variant	chromosome	start	stop	ref	alt	gene	cDNA	transcript	protein	hgvs	consensusClassification	supportingLabs	id
X:31514936 DMD G>A	X	31514936	31514936	G	A	DMD	c.8516C>T	NM_004006.3	NP_003997.2:p.(Pro2839Leu)	NC_000023.10:g.31514936G>A	VUS	2 labs	32c78be2df
7:6012923 PMS2 T>C	7	6012923	6012923	T	C	PMS2	c.*107A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6012923T>C	(Likely) benign	2 labs	3313a1c940
13:32913342 BRCA2 G>A	13	32913342	32913342	G	A	BRCA2	c.4850G>A	NM_000059.3	NP_000050.2:p.(Ser1617Asn)	NC_000013.10:g.32913342G>A	(Likely) benign	3 labs	1dad2b36ee
19:39025869 RYR1 G>A	19	39025869	39025869	G	A	RYR1	c.11439+9G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39025869G>A	(Likely) benign	2 labs	3354a42453
9:35800140 NPR2 G>A	9	35800140	35800140	G	A	NPR2	c.1109G>A	NM_003995.4	NP_003986.2:p.(Gly370Glu)	NC_000009.11:g.35800140G>A	VUS	2 labs	3385da5554
7:6043419 PMS2 C>T	7	6043419	6043419	C	T	PMS2	c.255G>A	NM_000535.5	NP_000526.1:p.(Leu85=)	NC_000007.13:g.6043419C>T	(Likely) benign	2 labs	1db3e26e9e
19:8645786 ADAMTS10 A>C	19	8645786	8645786	A	C	ADAMTS10	c.3303T>G	NM_030957.4	NP_112219.3:p.(His1101Gln)	NC_000019.9:g.8645786A>C	(Likely) benign	2 labs	1d0e1bde30
20:60884427 LAMA5 C>T	20	60884427	60884427	C	T	LAMA5	c.11053G>A	NM_005560.4	NP_005551.3:p.(Gly3685Arg)	NC_000020.10:g.60884427C>T	(Likely) benign	2 labs	1db6e40c6c
16:2156588 PKD1 G>A	16	2156588	2156588	G	A	PKD1	c.7300C>T	NM_001009944.3	NP_001009944.3:p.(Arg2434Trp)	NC_000016.9:g.2156588G>A	VUS	2 labs	33e153673b
7:140487360 BRAF G>A	7	140487360	140487360	G	A	BRAF	c.1165C>T	NM_004333.6	NP_004324.2:p.(Arg389Cys)	NC_000007.13:g.140487360G>A	(Likely) benign	2 labs	1d1f908c38
4:77661017 SHROOM3 A>C	4	77661017	77661017	A	C	SHROOM3	c.1691A>C	NM_020859.4	NP_065910.3:p.(Glu564Ala)	NC_000004.11:g.77661017A>C	(Likely) benign	2 labs	34033d084d
16:88782855 PIEZO1 G>A	16	88782855	88782855	G	A	PIEZO1	c.6963C>T	NM_001142864.4	NP_001136336.2:p.(Asn2321=)	NC_000016.9:g.88782855G>A	(Likely) benign	2 labs	3409ca01e3
X:48678585 HDAC6 G>A	X	48678585	48678585	G	A	HDAC6	c.2260G>A	NM_006044.4	NP_006035.2:p.(Val754Met)	NC_000023.10:g.48678585G>A	VUS	2 labs	3411a033e2
8:75276240 GDAP1 C>T	8	75276240	75276240	C	T	GDAP1	c.715C>T	NM_018972.4	NP_061845.2:p.(Leu239Phe)	NC_000008.10:g.75276240C>T	(Likely) pathogenic	3 labs	1d242f767a
1:215844373 USH2A C>T	1	215844373	215844373	C	T	USH2A	c.14074G>A	NM_206933.4	NP_996816.3:p.(Gly4692Arg)	NC_000001.10:g.215844373C>T	(Likely) benign	2 labs	34418dbeec
11:64504512 RASGRP2 G>A	11	64504512	64504512	G	A	RASGRP2	c.814-6C>T	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64504512G>A	(Likely) benign	2 labs	344d656ae3
2:48033791 MSH6 GTAACTAACTAACTATAATGGAATTA>G	2	48033791	48033825	GTAACTAACTAACTATAATGGAATTA	G	MSH6	c.4001+11_4001+35del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033801_48033825del	(Likely) benign	2 labs	1d2a41b9b4
1:7792534 CAMTA1 G>A	1	7792534	7792534	G	A	CAMTA1	c.2941G>A	NM_015215.4	NP_056030.1:p.(Glu981Lys)	NC_000001.10:g.7792534G>A	VUS	2 labs	3474bd04c7
4:6293021 WFS1 G>C	4	6293021	6293021	G	C	WFS1	c.558G>C	NM_006005.3	NP_005996.2:p.(Lys186Asn)	NC_000004.11:g.6293021G>C	VUS	2 labs	34a9b4e273
11:108114721 ATM C>T	11	108114721	108114721	C	T	ATM	c.538C>T	NM_000051.4	NP_000042.3:p.(Gln180Ter)	NC_000011.9:g.108114721C>T	(Likely) pathogenic	3 labs	34ba212808
15:58855760 LIPC A>C	15	58855760	58855760	A	C	LIPC	c.1226A>C	NM_000236.3	NP_000227.2:p.(Asp409Ala)	NC_000015.9:g.58855760A>C	VUS	3 labs	1d354883eb
5:37244553 CPLANE1 AT>A	5	37244553	37244554	AT	A	CPLANE1	c.493del	NM_001384732.1	NP_001371661.1:p.(Ile165TyrfsTer17)	NC_000005.9:g.37244554del	(Likely) pathogenic	2 labs	34ecadb3c6
15:77324670 PSTPIP1 G>C	15	77324670	77324670	G	C	PSTPIP1	c.773G>C	NM_003978.3	NP_003969.2:p.(Gly258Ala)	NC_000015.9:g.77324670G>C	(Likely) benign	2 labs	1dcbd2cec3
22:19753308 TBX1 C>T	22	19753308	19753308	C	T	TBX1	c.895C>T	NM_001379200.1	NP_001366129.1:p.(Pro299Ser)	NC_000022.10:g.19753308C>T	VUS	2 labs	3564f8f1f2
16:68862165 CDH1 C>T	16	68862165	68862165	C	T	CDH1	c.2253C>T	NM_004360.5	NP_004351.1:p.(Asn751=)	NC_000016.9:g.68862165C>T	(Likely) benign	2 labs	356cf73f96
22:41903813 ACO2 A>C	22	41903813	41903813	A	C	ACO2	c.192A>C	NM_001098.3	NP_001089.1:p.(Thr64=)	NC_000022.10:g.41903813A>C	(Likely) benign	3 labs	1d4883fea2
15:67457342 SMAD3 A>G	15	67457342	67457342	A	G	SMAD3	c.316A>G	NM_005902.4	NP_005893.1:p.(Met106Val)	NC_000015.9:g.67457342A>G	(Likely) benign	2 labs	35d15fd4de
X:135122262 SLC9A6 C>T	X	135122262	135122262	C	T	SLC9A6	c.1755C>T	NM_001042537.1	NP_001036002.1:p.(Ser585=)	NC_000023.10:g.135122262C>T	(Likely) benign	2 labs	1dfb790119
4:6303755 WFS1 G>A	4	6303755	6303755	G	A	WFS1	c.2233G>A	NM_006005.3	NP_005996.2:p.(Gly745Ser)	NC_000004.11:g.6303755G>A	(Likely) benign	2 labs	366737686b
11:17409352 KCNJ11 G>A	11	17409352	17409352	G	A	KCNJ11	c.287C>T	NM_000525.4	NP_000516.3:p.(Ala96Val)	NC_000011.9:g.17409352G>A	VUS	2 labs	3683cafae1
9:138662273 KCNT1 G>A	9	138662273	138662273	G	A	KCNT1	c.1749G>A	NM_020822.3	NP_065873.2:p.(Ala583=)	NC_000009.11:g.138662273G>A	(Likely) benign	3 labs	1d7776ebd1
21:47422122 COL6A1 T>C	21	47422122	47422122	T	C	COL6A1	c.2067-10T>C	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422122T>C	(Likely) benign	2 labs	36db68dc35
2:48027380 MSH6 C>G	2	48027380	48027380	C	G	MSH6	c.2258C>G	NM_000179.3	NP_000170.1:p.(Ser753Cys)	NC_000002.11:g.48027380C>G	VUS	2 labs	1d8e7203b4
17:73519413 TSEN54 C>T	17	73519413	73519413	C	T	TSEN54	c.1310C>T	NM_207346.3	NP_997229.2:p.(Ala437Val)	NC_000017.10:g.73519413C>T	(Likely) benign	4 labs	1d9184117e
6:152469197 SYNE1 C>T	6	152469197	152469197	C	T	SYNE1	c.24959G>A	NM_182961.4	NP_892006.3:p.(Gly8320Glu)	NC_000006.11:g.152469197C>T	VUS	2 labs	3785aabc2b
9:35808757 NPR2 G>T	9	35808757	35808757	G	T	NPR2	c.2893G>T	NM_003995.4	NP_003986.2:p.(Val965Phe)	NC_000009.11:g.35808757G>T	VUS	2 labs	37a169e09c
2:170344367 BBS5 T>C	2	170344367	170344367	T	C	BBS5	c.258+2T>C	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170344367T>C	(Likely) pathogenic	2 labs	37db6167ed
8:1830928 ARHGEF10 A>G	8	1830928	1830928	A	G	ARHGEF10	c.1075+13A>G	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1830928A>G	(Likely) benign	3 labs	1db7bbc837
12:112910835 PTPN11 A>G	12	112910835	112910835	A	G	PTPN11	c.844A>G	NM_002834.5	NP_002825.3:p.(Ile282Val)	NC_000012.11:g.112910835A>G	(Likely) pathogenic	2 labs	38428ef556
3:69171290 LMOD3 C>T	3	69171290	69171290	C	T	LMOD3	c.248G>A	NM_198271.5	NP_938012.2:p.(Arg83His)	NC_000003.11:g.69171290C>T	(Likely) benign	2 labs	38467f10c5
5:1278787 TERT T>C	5	1278787	1278787	T	C	TERT	c.2255A>G	NM_198253.2	NP_937983.2:p.(His752Arg)	NC_000005.9:g.1278787T>C	(Likely) benign	2 labs	1e247cd973
19:36339063 NPHS1 G>A	19	36339063	36339063	G	A	NPHS1	c.1320C>T	NM_004646.4	NP_004637.1:p.(Pro440=)	NC_000019.9:g.36339063G>A	(Likely) benign	2 labs	3895cef1fe
10:76789077 KAT6B G>A	10	76789077	76789077	G	A	KAT6B	c.4495G>A	NM_012330.4	NP_036462.2:p.(Val1499Ile)	NC_000010.10:g.76789077G>A	(Likely) benign	2 labs	38b39022b4
7:47917126 PKD1L1 T>C	7	47917126	47917126	T	C	PKD1L1	c.3624A>G	NM_138295.5	NP_612152.1:p.(Ala1208=)	NC_000007.13:g.47917126T>C	(Likely) benign	2 labs	38f0548a58
1:236911004 ACTN2 C>T	1	236911004	236911004	C	T	ACTN2	c.1444C>T	NM_001103.4	NP_001094.1:p.(Arg482Trp)	NC_000001.10:g.236911004C>T	VUS	5 labs	1dbf2d7445
5:137217657 MYOT TGTAGAA>T	5	137217657	137217668	TGTAGAA	T	MYOT	c.685_690del	NM_006790.3	NP_006781.1:p.(Arg230_Ser231del)	NC_000005.9:g.137217663_137217668del	VUS	2 labs	394dae4222
6:31917300 CFB G>A	6	31917300	31917300	G	A	CFB	c.1374G>A	NM_001710.6	NP_001701.2:p.(Met458Ile)	NC_000006.11:g.31917300G>A	VUS	2 labs	1dc469b5f1
1:152284024 FLG C>T	1	152284024	152284024	C	T	FLG	c.3338G>A	NM_002016.2	NP_002007.1:p.(Arg1113His)	NC_000001.10:g.152284024C>T	(Likely) benign	2 labs	39907e6a15
12:49427919 KMT2D T>C	12	49427919	49427919	T	C	KMT2D	c.10671A>G	NM_003482.4	NP_003473.3:p.(Pro3557=)	NC_000012.11:g.49427919T>C	(Likely) benign	2 labs	39cc005486
2:170100011 LRP2 G>A	2	170100011	170100011	G	A	LRP2	c.3452C>T	NM_004525.3	NP_004516.2:p.(Pro1151Leu)	NC_000002.11:g.170100011G>A	(Likely) benign	2 labs	3a303d7aa4
6:112522856 LAMA4 A>T	6	112522856	112522856	A	T	LAMA4	c.456T>A	NM_001105206.3	NP_001098676.2:p.(Ala152=)	NC_000006.11:g.112522856A>T	(Likely) benign	5 labs	1dd244bad6
2:1946770 MYT1L TTCC>T	2	1946770	1946793	TTCC	T	MYT1L	c.486_488del	NM_001303052.2	NP_001289981.1:p.(Glu167del)	NC_000002.11:g.1946791_1946793del	(Likely) benign	2 labs	1dd5f399c7
16:19659116 VPS35L G>A	16	19659116	19659116	G	A	VPS35L	c.1940G>A	NM_020314.7	NP_064710.5:p.(Gly647Asp)	NC_000016.9:g.19659116G>A	VUS	2 labs	3ab7c2421b
11:68178998 LRP5 C>T	11	68178998	68178998	C	T	LRP5	c.2413C>T	NM_002335.4	NP_002326.2:p.(Arg805Trp)	NC_000011.9:g.68178998C>T	(Likely) pathogenic	2 labs	3abbed8c86
15:77324734 PSTPIP1 C>T	15	77324734	77324734	C	T	PSTPIP1	c.837C>T	NM_003978.3	NP_003969.2:p.(Pro279=)	NC_000015.9:g.77324734C>T	(Likely) benign	2 labs	1e4b3e2176
16:3795351 CREBBP C>T	16	3795351	3795351	C	T	CREBBP	c.3841G>A	NM_004380.3	NP_004371.2:p.(Val1281Ile)	NC_000016.9:g.3795351C>T	(Likely) benign	2 labs	3b84cfcdb9
2:179438974 TTN TCAA>T	2	179438974	179438978	TCAA	T	TTN	c.66959_66961del	NM_001256850.1	NP_001243779.1:p.(Val22320del)	NC_000002.11:g.179438976_179438978del	VUS	2 labs	1e58d9a82b
15:89384991 ACAN G>A	15	89384991	89384991	G	A	ACAN	c.650G>A	NM_001369268.1	NP_001356197.1:p.(Arg217Gln)	NC_000015.9:g.89384991G>A	VUS	2 labs	3b9518f808
17:17697099 RAI1 G>A	17	17697099	17697099	G	A	RAI1	c.837G>A	NM_030665.4	NP_109590.3:p.(Gln279=)	NC_000017.10:g.17697099G>A	(Likely) benign	2 labs	3bbc48e5de
1:241667401 FH C>T	1	241667401	241667401	C	T	FH	c.1049G>A	NM_000143.4	NP_000134.2:p.(Arg350Gln)	NC_000001.10:g.241667401C>T	VUS	2 labs	3bbf739dfc
17:10534983 MYH3 T>C	17	10534983	10534983	T	C	MYH3	c.5231A>G	NM_002470.4	NP_002461.2:p.(Asp1744Gly)	NC_000017.10:g.10534983T>C	VUS	2 labs	3bc276a83f
2:46588237 EPAS1 G>T	2	46588237	46588237	G	T	EPAS1	c.779+8G>T	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46588237G>T	(Likely) benign	2 labs	1e682302ec
19:39071087 RYR1 C>T	19	39071087	39071087	C	T	RYR1	c.14589C>T	NM_000540.3	NP_000531.2:p.(Phe4863=)	NC_000019.9:g.39071087C>T	(Likely) benign	2 labs	3bf1919dc1
20:61451305 COL9A3 C>T	20	61451305	61451305	C	T	COL9A3	c.280C>T	NM_001853.4	NP_001844.3:p.(Pro94Ser)	NC_000020.10:g.61451305C>T	(Likely) benign	2 labs	3c0044fe8c
1:237777627 RYR2 G>A	1	237777627	237777627	G	A	RYR2	c.5199G>A	NM_001035.3	NP_001026.2:p.(Thr1733=)	NC_000001.10:g.237777627G>A	(Likely) benign	2 labs	1e7d6b8a6f
18:29125840 DSG2 C>T	18	29125840	29125840	C	T	DSG2	c.2491C>T	NM_001943.5	NP_001934.2:p.(Leu831Phe)	NC_000018.9:g.29125840C>T	VUS	3 labs	1e849512c4
2:179426219 TTN T>C	2	179426219	179426219	T	C	TTN	c.84640A>G	NM_001267550.2	NP_001254479.2:p.(Met28214Val)	NC_000002.11:g.179426219T>C	(Likely) benign	5 labs	1df95da93a
4:110685687 CFI G>T	4	110685687	110685687	G	T	CFI	c.482+6C>A	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110685687G>T	(Likely) benign	2 labs	1e894837ac
16:89349377 ANKRD11 G>C	16	89349377	89349377	G	C	ANKRD11	c.3573C>G	NM_013275.6	NP_037407.4:p.(Ala1191=)	NC_000016.9:g.89349377G>C	(Likely) benign	2 labs	3d641023ac
4:1801123 FGFR3 G>A	4	1801123	1801123	G	A	FGFR3	c.252G>A	NM_000142.5	NP_000133.1:p.(Ser84=)	NC_000004.11:g.1801123G>A	(Likely) benign	2 labs	3d64141b8d
19:39008109 RYR1 A>C	19	39008109	39008109	A	C	RYR1	c.9796A>C	NM_000540.3	NP_000531.2:p.(Met3266Leu)	NC_000019.9:g.39008109A>C	VUS	2 labs	3d883e39be
6:1610760 FOXC1 GCGCGGCGGC>G	6	1610760	1610780	GCGCGGCGGC	G	FOXC1	c.92_100del	NM_001453.3	NP_001444.2:p.(Ala31_Ala33del)	NC_000006.11:g.1610772_1610780del	(Likely) benign	2 labs	3d9b89d319
3:49455325 AMT C>T	3	49455325	49455325	C	T	AMT	c.959G>A	NM_000481.3	NP_000472.2:p.(Arg320His)	NC_000003.11:g.49455325C>T	(Likely) pathogenic	3 labs	1ea5d4a43f
5:169535522 FOXI1 T>C	5	169535522	169535522	T	C	FOXI1	c.1044T>C	NM_012188.5	NP_036320.2:p.(Tyr348=)	NC_000005.9:g.169535522T>C	(Likely) benign	2 labs	1e0e5c8cf8
13:32903511 BRCA2 T>C	13	32903511	32903511	T	C	BRCA2	c.632-69T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903511T>C	(Likely) benign	2 labs	33f6edd851
4:994446 IDUA G>A	4	994446	994446	G	A	IDUA	c.346G>A	NM_000203.5	NP_000194.2:p.(Gly116Arg)	NC_000004.11:g.994446G>A	(Likely) benign	2 labs	3ef361c6ba
X:39932907 BCOR T>C	X	39932907	39932907	T	C	BCOR	c.1692A>G	NM_001123385.2	NP_001116857.1:p.(Ala564=)	NC_000023.10:g.39932907T>C	(Likely) benign	2 labs	1e2e7fdcbd
X:53561087 HUWE1 C>T	X	53561087	53561087	C	T	HUWE1	c.12903=	NM_031407.6	NP_113584.3:p.(Thr4301=)	NC_000023.10:g.53561087C>T	(Likely) benign	2 labs	3f28ed3e0e
2:215645385 BARD1 T>C	2	215645385	215645385	T	C	BARD1	c.1213A>G	NM_000465.4	NP_000456.2:p.(Arg405Gly)	NC_000002.11:g.215645385T>C	VUS	2 labs	3fca4b8d3f
6:44280812 AARS2 C>T	6	44280812	44280812	C	T	AARS2	c.243+6G>A	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44280812C>T	(Likely) benign	2 labs	1e418a644c
9:711331 KANK1 G>A	9	711331	711331	G	A	KANK1	c.565G>A	NM_015158.4	NP_055973.2:p.(Gly189Ser)	NC_000009.11:g.711331G>A	(Likely) benign	2 labs	37a0bb667c
11:108142047 ATM A>G	11	108142047	108142047	A	G	ATM	c.2991A>G	NM_000051.4	NP_000042.3:p.(Val997=)	NC_000011.9:g.108142047A>G	(Likely) benign	2 labs	40311d912d
4:88973152 PKD2 G>GT	4	88973152	88973153	G	GT	PKD2	c.1559dup	NM_000297.4	NP_000288.1:p.(Ala521SerfsTer5)	NC_000004.11:g.88973153dup	(Likely) pathogenic	2 labs	34021606aa
15:35083484 ACTC1 G>A	15	35083484	35083484	G	A	ACTC1	c.821C>T	NM_005159.5	NP_005150.1:p.(Ala274Val)	NC_000015.9:g.35083484G>A	VUS	2 labs	1e54c00ba3
14:74422599 COQ6 A>G	14	74422599	74422599	A	G	COQ6	c.449A>G	NM_182476.3	NP_872282.1:p.(His150Arg)	NC_000014.8:g.74422599A>G	(Likely) benign	2 labs	1ed035ccc1
17:59878830 BRIP1 T>C	17	59878830	59878830	T	C	BRIP1	c.924A>G	NM_032043.3	NP_114432.2:p.(Lys308=)	NC_000017.10:g.59878830T>C	(Likely) benign	3 labs	40c631665b
16:2141461 PKD1 C>T	16	2141461	2141461	C	T	PKD1	c.11675G>A	NM_001009944.3	NP_001009944.3:p.(Arg3892His)	NC_000016.9:g.2141461C>T	VUS	2 labs	40ea282a52
16:56539868 BBS2 A>T	16	56539868	56539868	A	T	BBS2	c.798T>A	NM_031885.5	NP_114091.4:p.(Asn266Lys)	NC_000016.9:g.56539868A>T	VUS	2 labs	40f6f5cea0
9:100843203 NANS C>T	9	100843203	100843203	C	T	NANS	c.709C>T	NM_018946.4	NP_061819.2:p.(Arg237Cys)	NC_000009.11:g.100843203C>T	(Likely) pathogenic	2 labs	40f9baa8b4
12:54676412 HNRNPA1 T>C	12	54676412	54676412	T	C	HNRNPA1	c.639T>C	NM_031157.4	NP_112420.1:p.(Asn213=)	NC_000012.11:g.54676412T>C	(Likely) benign	2 labs	411f02c4dd
5:176637240 NSD1 G>T	5	176637240	176637240	G	T	NSD1	c.1840G>T	NM_022455.5	NP_071900.2:p.(Val614Leu)	NC_000005.9:g.176637240G>T	(Likely) benign	2 labs	1e6515b1c2
2:121748153 GLI2 T>C	2	121748153	121748153	T	C	GLI2	c.4663T>C	NM_005270.5	NP_005261.2:p.(Ser1555Pro)	NC_000002.11:g.121748153T>C	(Likely) benign	2 labs	1e66fad87a
17:40384084 STAT5B A>G	17	40384084	40384084	A	G	STAT5B	c.62T>C	NM_012448.4	NP_036580.2:p.(Leu21Ser)	NC_000017.10:g.40384084A>G	VUS	2 labs	417fe8d846
6:137219351 PEX7 T>A	6	137219351	137219351	T	A	PEX7	c.875T>A	NM_000288.4	NP_000279.1:p.(Leu292Ter)	NC_000006.11:g.137219351T>A	(Likely) pathogenic	6 labs	1e6d0d9230
12:32955383 PKP2 C>T	12	32955383	32955383	C	T	PKP2	c.2253G>A	NM_004572.4	NP_004563.2:p.(Ser751=)	NC_000012.11:g.32955383C>T	(Likely) benign	4 labs	1e77ec2325
17:4802159 CHRNE T>TC	17	4802159	4802163	T	TC	CHRNE	c.1353dup	NM_000080.4	NP_000071.1:p.(Asn452GlufsTer4)	NC_000017.10:g.4802163dup	(Likely) pathogenic	2 labs	41cdc66db4
20:18491519 SEC23B C>T	20	18491519	18491519	C	T	SEC23B	c.40C>T	NM_006363.6	NP_006354.2:p.(Arg14Trp)	NC_000020.10:g.18491519C>T	(Likely) pathogenic	2 labs	41e29e708a
1:201869792 LMOD1 G>A	1	201869792	201869792	G	A	LMOD1	c.349C>T	NM_012134.3	NP_036266.2:p.(Arg117Trp)	NC_000001.10:g.201869792G>A	VUS	2 labs	1eec5e9e96
17:41245409 BRCA1 T>G	17	41245409	41245409	T	G	BRCA1	c.2139A>C	NM_007294.3	NP_009225.1:p.(Ser713=)	NC_000017.10:g.41245409T>G	(Likely) benign	2 labs	1eef49d941
6:51929841 PKHD1 T>A	6	51929841	51929841	T	A	PKHD1	c.888A>T	NM_138694.4	NP_619639.3:p.(Pro296=)	NC_000006.11:g.51929841T>A	(Likely) benign	2 labs	3402e6eefd
2:179498702 TTN A>C	2	179498702	179498702	A	C	TTN	c.42524T>G	NM_001267550.2	NP_001254479.2:p.(Phe14175Cys)	NC_000002.11:g.179498702A>C	VUS	2 labs	4267d18b43
9:140968449 CACNA1B G>A	9	140968449	140968449	G	A	CACNA1B	c.4792-4G>A	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140968449G>A	(Likely) benign	2 labs	1e83a9af56
1:196706677 CFH G>T	1	196706677	196706677	G	T	CFH	c.2669G>T	NM_000186.3	NP_000177.2:p.(Ser890Ile)	NC_000001.10:g.196706677G>T	(Likely) benign	2 labs	34047c41cd
X:47003866 NDUFB11 T>C	X	47003866	47003866	T	C	NDUFB11	c.207+6A>G	NM_019056.7	NP_061929.2:p.?	NC_000023.10:g.47003866T>C	(Likely) benign	2 labs	426d2b4900
12:88482862 CEP290 T>C	12	88482862	88482862	T	C	CEP290	c.3976A>G	NM_025114.4	NP_079390.3:p.(Lys1326Glu)	NC_000012.11:g.88482862T>C	VUS	2 labs	42b6e3ff73
1:152277137 FLG G>A	1	152277137	152277137	G	A	FLG	c.10225C>T	NM_002016.2	NP_002007.1:p.(Arg3409Ter)	NC_000001.10:g.152277137G>A	(Likely) pathogenic	2 labs	42c3c085c0
2:179396826 TTN C>T	2	179396826	179396826	C	T	TTN	c.104516G>A	NM_001267550.2	NP_001254479.2:p.(Arg34839Gln)	NC_000002.11:g.179396826C>T	VUS	2 labs	1e91b002f6
19:11227554 LDLR C>T	19	11227554	11227554	C	T	LDLR	c.1725C>T	NM_000527.5	NP_000518.1:p.(Leu575=)	NC_000019.9:g.11227554C>T	(Likely) benign	2 labs	1e936d659d
11:2187233 TH G>A	11	2187233	2187233	G	A	TH	c.1103C>T	NM_000360.4	NP_000351.2:p.(Thr368Met)	NC_000011.9:g.2187233G>A	(Likely) pathogenic	2 labs	42e6fce76d
20:4680521 PRNP G>A	20	4680521	4680521	G	A	PRNP	c.655G>A	NM_000311.5	NP_000302.1:p.(Glu219Lys)	NC_000020.10:g.4680521G>A	(Likely) benign	2 labs	431fe66a9b
1:237730059 RYR2 C>T	1	237730059	237730059	C	T	RYR2	c.3407C>T	NM_001035.3	NP_001026.2:p.(Ala1136Val)	NC_000001.10:g.237730059C>T	(Likely) benign	6 labs	1e94ab0367
12:110720542 ATP2A2 T>C	12	110720542	110720542	T	C	ATP2A2	c.161T>C	NM_170665.4	NP_733765.1:p.(Ile54Thr)	NC_000012.11:g.110720542T>C	VUS	2 labs	43384dfc40
8:11615835 GATA4 C>A	8	11615835	11615835	C	A	GATA4	c.1180C>A	NM_002052.5	NP_002043.2:p.(Pro394Thr)	NC_000008.10:g.11615835C>A	(Likely) benign	3 labs	1efd935be7
9:73213379 TRPM3 C>T	9	73213379	73213379	C	T	TRPM3	c.3004G>A	NM_001366145.2	NP_001353074.1:p.(Val1002Met)	NC_000009.11:g.73213379C>T	(Likely) pathogenic	2 labs	435f85f41b
14:45669205 FANCM T>C	14	45669205	45669205	T	C	FANCM	c.6141T>C	NM_020937.4	NP_065988.1:p.(Asp2047=)	NC_000014.8:g.45669205T>C	(Likely) benign	2 labs	436cea900a
14:64681103 SYNE2 C>G	14	64681103	64681103	C	G	SYNE2	c.19248C>G	NM_182914.3	NP_878918.2:p.(Pro6416=)	NC_000014.8:g.64681103C>G	(Likely) benign	2 labs	1e99bb0005
2:179467322 TTN T>A	2	179467322	179467322	T	A	TTN	c.54812-5A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467322T>A	(Likely) benign	2 labs	4390a99dcf
17:40689455 NAGLU T>C	17	40689455	40689455	T	C	NAGLU	c.423T>C	NM_000263.4	NP_000254.2:p.(Ser141=)	NC_000017.10:g.40689455T>C	(Likely) benign	4 labs	1ea1015430
22:21348918 LZTR1 G>C	22	21348918	21348918	G	C	LZTR1	c.1687G>C	NM_006767.4	NP_006758.2:p.(Glu563Gln)	NC_000022.10:g.21348918G>C	(Likely) pathogenic	2 labs	43d9eebc93
18:57134052 CCBE1 G>A	18	57134052	57134052	G	A	CCBE1	c.472C>T	NM_133459.4	NP_597716.1:p.(Arg158Cys)	NC_000018.9:g.57134052G>A	(Likely) pathogenic	2 labs	1ea3a8e4c9
8:144990997 PLEC G>A	8	144990997	144990997	G	A	PLEC	c.12992C>T	NM_201384.3	NP_958786.1:p.(Pro4331Leu)	NC_000008.10:g.144990997G>A	VUS	2 labs	43efedcfcf
15:93521604 CHD2 A>G	15	93521604	93521604	A	G	CHD2	c.2718A>G	NM_001271.4	NP_001262.3:p.(Gln906=)	NC_000015.9:g.93521604A>G	(Likely) benign	2 labs	1ea63f0d8f
4:79432453 FRAS1 G>A	4	79432453	79432453	G	A	FRAS1	c.9806G>A	NM_025074.7	NP_079350.5:p.(Arg3269Gln)	NC_000004.11:g.79432453G>A	(Likely) benign	3 labs	1ea7d2a2f8
17:33446137 RAD51D G>C	17	33446137	33446137	G	C	RAD51D	c.137C>G	NM_002878.4	NP_002869.3:p.(Ser46Cys)	NC_000017.10:g.33446137G>C	VUS	2 labs	442f9064b3
3:9986249 CRELD1 A>G	3	9986249	9986249	A	G	CRELD1	c.1249A>G	NM_015513.6	NP_056328.3:p.(Ile417Val)	NC_000003.11:g.9986249A>G	(Likely) benign	2 labs	1f4e2dabf4
15:90188282 KIF7 C>G	15	90188282	90188282	C	G	KIF7	c.2153G>C	NM_198525.3	NP_940927.2:p.(Arg718Pro)	NC_000015.9:g.90188282C>G	VUS	2 labs	4438946dc8
11:47356683 MYBPC3 G>A	11	47356683	47356683	G	A	MYBPC3	c.2815C>T	NM_000256.3	NP_000247.2:p.(Arg939Trp)	NC_000011.9:g.47356683G>A	VUS	3 labs	1eae97db64
X:48752372 TIMM17B G>A	X	48752372	48752372	G	A	TIMM17B	c.289C>T	NM_001167947.2	NP_001161419.1:p.(Arg97Trp)	NC_000023.10:g.48752372G>A	(Likely) benign	2 labs	4478dd3f83
15:89391145 ACAN C>A	15	89391145	89391145	C	A	ACAN	c.1608C>A	NM_001369268.1	NP_001356197.1:p.(Tyr536Ter)	NC_000015.9:g.89391145C>A	(Likely) pathogenic	2 labs	44949f3c40
16:2140782 PKD1 G>A	16	2140782	2140782	G	A	PKD1	c.12031C>T	NM_001009944.3	NP_001009944.3:p.(Gln4011Ter)	NC_000016.9:g.2140782G>A	(Likely) pathogenic	2 labs	44c267c63b
11:119156088 CBL C>T	11	119156088	119156088	C	T	CBL	c.1753C>T	NM_005188.4	NP_005179.2:p.(Arg585Cys)	NC_000011.9:g.119156088C>T	(Likely) benign	2 labs	44c5b2afd5
12:114804116 TBX5 C>T	12	114804116	114804116	C	T	TBX5	c.836G>A	NM_000192.3	NP_000183.2:p.(Arg279Gln)	NC_000012.11:g.114804116C>T	(Likely) benign	2 labs	1f5892bdc1
7:74193665 NCF1 T>G	7	74193665	74193665	T	G	NCF1	c.292T>G	NM_000265.6	NP_000256.4:p.(Cys98Gly)	NC_000007.13:g.74193665T>G	VUS	5 labs	1eb47e8be1
8:17918934 ASAH1 A>G	8	17918934	17918934	A	G	ASAH1	c.737T>C	NM_177924.5	NP_808592.2:p.(Val246Ala)	NC_000008.10:g.17918934A>G	(Likely) benign	2 labs	1eb57d1d53
16:31195253 FUS T>A	16	31195253	31195253	T	A	FUS	c.265T>A	NM_004960.4	NP_004951.1:p.(Ser89Thr)	NC_000016.9:g.31195253T>A	VUS	2 labs	1eb5c1b961
16:23635322 PALB2 T>C	16	23635322	23635322	T	C	PALB2	c.2834+8A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635322T>C	(Likely) benign	2 labs	452a7926fc
2:179659294 TTN C>T	2	179659294	179659294	C	T	TTN	c.1246-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659294C>T	(Likely) benign	5 labs	1eb7bf0e8b
2:120005312 STEAP3 G>A	2	120005312	120005312	G	A	STEAP3	c.580G>A	NM_182915.3	NP_878919.2:p.(Ala194Thr)	NC_000002.11:g.120005312G>A	(Likely) benign	2 labs	45a15038bc
1:155206167 GBA1 C>T	1	155206167	155206167	C	T	GBA1	c.1093G>A	NM_001005741.3	NP_001005741.1:p.(Glu365Lys)	NC_000001.10:g.155206167C>T	(Likely) benign	5 labs	1eca298d40
22:26423161 MYO18B G>A	22	26423161	26423161	G	A	MYO18B	c.7221G>A	NM_032608.7	NP_115997.5:p.(Gln2407=)	NC_000022.10:g.26423161G>A	(Likely) benign	2 labs	1f667a54eb
10:89653805 PTEN A>G	10	89653805	89653805	A	G	PTEN	c.103A>G	NM_000314.8	NP_000305.3:p.(Met35Val)	NC_000010.10:g.89653805A>G	(Likely) pathogenic	2 labs	45f8bfed30
16:1818311 MAPK8IP3 C>T	16	1818311	1818311	C	T	MAPK8IP3	c.3674C>T	NM_001318852.2	NP_001305781.1:p.(Ser1225Phe)	NC_000016.9:g.1818311C>T	VUS	2 labs	462bfac267
12:48389695 COL2A1 A>G	12	48389695	48389695	A	G	COL2A1	c.617T>C	NM_001844.5	NP_001835.3:p.(Met206Thr)	NC_000012.11:g.48389695A>G	VUS	2 labs	463fcfeba3
22:35726364 TOM1 A>G	22	35726364	35726364	A	G	TOM1	c.790A>G	NM_005488.3	NP_005479.1:p.(Met264Val)	NC_000022.10:g.35726364A>G	(Likely) benign	2 labs	1ed816c751
6:116757472 DSE A>G	6	116757472	116757472	A	G	DSE	c.1841A>G	NM_013352.4	NP_037484.1:p.(Tyr614Cys)	NC_000006.11:g.116757472A>G	VUS	2 labs	46a0c61240
21:47412687 COL6A1 G>A	21	47412687	47412687	G	A	COL6A1	c.1298G>A	NM_001848.2	NP_001839.2:p.(Arg433Gln)	NC_000021.8:g.47412687G>A	(Likely) benign	2 labs	1f8489d89c
X:18972476 PHKA2 G>A	X	18972476	18972476	G	A	PHKA2	c.133C>T	NM_000292.3	NP_000283.1:p.(Arg45Trp)	NC_000023.10:g.18972476G>A	(Likely) pathogenic	2 labs	1ee0728676
1:228346053 GJC2 C>T	1	228346053	228346053	C	T	GJC2	c.594C>T	NM_020435.4	NP_065168.2:p.(His198=)	NC_000001.10:g.228346053C>T	(Likely) benign	2 labs	4746edf3c2
16:2166127 PKD1 G>A	16	2166127	2166127	G	A	PKD1	c.1723-8C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2166127G>A	(Likely) benign	2 labs	47761a8581
17:59761470 BRIP1 T>C	17	59761470	59761470	T	C	BRIP1	c.2937A>G	NM_032043.3	NP_114432.2:p.(Lys979=)	NC_000017.10:g.59761470T>C	(Likely) benign	2 labs	478a4a9df7
11:22239825 ANO5 C>T	11	22239825	22239825	C	T	ANO5	c.172C>T	NM_213599.3	NP_998764.1:p.(Arg58Trp)	NC_000011.9:g.22239825C>T	(Likely) pathogenic	2 labs	479e2cc196
6:51882330 PKHD1 C>T	6	51882330	51882330	C	T	PKHD1	c.5478G>A	NM_138694.4	NP_619639.3:p.(Ala1826=)	NC_000006.11:g.51882330C>T	(Likely) benign	2 labs	1f9d9aebe7
X:153551649 TKTL1 C>T	X	153551649	153551649	C	T	TKTL1	c.1283C>T	NM_012253.4	NP_036385.3:p.(Thr428Met)	NC_000023.10:g.153551649C>T	VUS	2 labs	47b7e9d283
5:112177415 APC T>C	5	112177415	112177415	T	C	APC	c.6124T>C	NM_000038.6	NP_000029.2:p.(Cys2042Arg)	NC_000005.9:g.112177415T>C	VUS	2 labs	47cd845b7c
2:166901805 SCN1A G>A	2	166901805	166901805	G	A	SCN1A	c.1410C>T	NM_001165963.4	NP_001159435.1:p.(Ser470=)	NC_000002.11:g.166901805G>A	(Likely) benign	2 labs	47e78891f5
2:219922163 IHH A>G	2	219922163	219922163	A	G	IHH	c.569T>C	NM_002181.4	NP_002172.2:p.(Val190Ala)	NC_000002.11:g.219922163A>G	(Likely) pathogenic	2 labs	47f40120ea
12:110013909 MVK G>A	12	110013909	110013909	G	A	MVK	c.185G>A	NM_000431.4	NP_000422.1:p.(Trp62Ter)	NC_000012.11:g.110013909G>A	(Likely) pathogenic	4 labs	1ef8241c79
7:92085763 GATAD1 C>T	7	92085763	92085763	C	T	GATAD1	c.697C>T	NM_021167.5	NP_066990.3:p.(Arg233Trp)	NC_000007.13:g.92085763C>T	(Likely) benign	2 labs	1fae6d811a
22:19951271 COMT G>A	22	19951271	19951271	G	A	COMT	c.472G>A	NM_000754.4	NP_000745.1:p.(Val158Met)	NC_000022.10:g.19951271G>A	(Likely) benign	4 labs	1ef8469b1f
21:47419603 COL6A1 G>A	21	47419603	47419603	G	A	COL6A1	c.1773G>A	NM_001848.3	NP_001839.2:p.(Pro591=)	NC_000021.8:g.47419603G>A	(Likely) benign	2 labs	4840d4802c
7:97483937 ASNS T>C	7	97483937	97483937	T	C	ASNS	c.1193A>G	NM_001673.5	NP_001664.3:p.(Tyr398Cys)	NC_000007.13:g.97483937T>C	(Likely) pathogenic	2 labs	484ef595ea
2:216257815 FN1 A>G	2	216257815	216257815	A	G	FN1	c.3908T>C	NM_212482.2	NP_997647.1:p.(Val1303Ala)	NC_000002.11:g.216257815A>G	(Likely) benign	2 labs	1fb0a12fa6
11:63974966 FERMT3 G>A	11	63974966	63974966	G	A	FERMT3	c.130G>A	NM_031471.6	NP_113659.3:p.(Gly44Arg)	NC_000011.9:g.63974966G>A	(Likely) benign	2 labs	48637716b7
2:220285088 DES C>T	2	220285088	220285088	C	T	DES	c.735+20C>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285088C>T	(Likely) benign	6 labs	1f0400506d
8:90994949 NBN C>T	8	90994949	90994949	C	T	NBN	c.171+1G>A	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90994949C>T	(Likely) pathogenic	2 labs	489a7d2370
15:89382027 ACAN A>C	15	89382027	89382027	A	C	ACAN	c.204A>C	NM_001369268.1	NP_001356197.1:p.(Pro68=)	NC_000015.9:g.89382027A>C	(Likely) benign	2 labs	48af7e665b
2:179444867 TTN C>T	2	179444867	179444867	C	T	TTN	c.67147G>A	NM_001267550.2	NP_001254479.2:p.(Gly22383Arg)	NC_000002.11:g.179444867C>T	VUS	2 labs	48b1b32e8a
X:32472763 DMD CT>C	X	32472763	32472776	CT	C	DMD	c.3603+15del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32472776del	(Likely) benign	4 labs	1f086d7f4c
2:16080769 MYCN G>T	2	16080769	16080769	G	T	MYCN	c.-214G>T	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16080769G>T	(Likely) benign	2 labs	49181e7517
1:223178026 DISP1 T>C	1	223178026	223178026	T	C	DISP1	c.3287T>C	NM_001377229.1	NP_001364158.1:p.(Met1096Thr)	NC_000001.10:g.223178026T>C	(Likely) benign	2 labs	492cbdf216
2:175614708 CHRNA1 G>A	2	175614708	175614708	G	A	CHRNA1	c.968C>T	NM_000079.4	NP_000070.1:p.(Pro323Leu)	NC_000002.11:g.175614708G>A	VUS	2 labs	497032a2a1
9:100616765 FOXE1 C>G	9	100616765	100616765	C	G	FOXE1	c.569C>G	NM_004473.4	NP_004464.2:p.(Pro190Arg)	NC_000009.11:g.100616765C>G	(Likely) benign	2 labs	496848f5f5
3:123418913 MYLK G>A	3	123418913	123418913	G	A	MYLK	c.3402C>T	NM_053025.4	NP_444253.3:p.(Asn1134=)	NC_000003.11:g.123418913G>A	(Likely) benign	2 labs	1f239fcc49
1:40777792 COL9A2 G>A	1	40777792	40777792	G	A	COL9A2	c.364-8C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40777792G>A	(Likely) benign	2 labs	4994d3d611
19:11231203 LDLR G>A	19	11231203	11231203	G	A	LDLR	c.2140+5G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231203G>A	(Likely) benign	3 labs	1f287eaf9c
1:45798130 MUTYH G>A	1	45798130	45798130	G	A	MUTYH	c.637C>T	NM_001048174.2	NP_001041639.1:p.(Arg213Trp)	NC_000001.10:g.45798130G>A	(Likely) pathogenic	2 labs	4a05438cde
3:119133183 ARHGAP31 G>A	3	119133183	119133183	G	A	ARHGAP31	c.2407G>A	NM_020754.4	NP_065805.2:p.(Gly803Ser)	NC_000003.11:g.119133183G>A	(Likely) benign	2 labs	1f31ae9253
19:13339551 CACNA1A CGA>C	19	13339551	13339556	CGA	C	CACNA1A	c.5529-1212_5529-1211del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13339555_13339556del	(Likely) pathogenic	3 labs	1f3605b7e8
1:156108328 LMNA C>T	1	156108328	156108328	C	T	LMNA	c.1748C>T	NM_170707.4	NP_733821.1:p.(Ser583Leu)	NC_000001.10:g.156108328C>T	VUS	2 labs	4aa011b2ab
12:103234250 PAH C>T	12	103234250	103234250	C	T	PAH	c.1243G>A	NM_000277.3	NP_000268.1:p.(Asp415Asn)	NC_000012.11:g.103234250C>T	(Likely) pathogenic	2 labs	4ae4d03ec9
1:237947201 RYR2 G>A	1	237947201	237947201	G	A	RYR2	c.12189G>A	NM_001035.3	NP_001026.2:p.(Thr4063=)	NC_000001.10:g.237947201G>A	(Likely) benign	4 labs	1f3fffe3db
6:47563692 CD2AP C>T	6	47563692	47563692	C	T	CD2AP	c.1204C>T	NM_012120.3	NP_036252.1:p.(Leu402=)	NC_000006.11:g.47563692C>T	(Likely) benign	3 labs	1f47329f1a
8:86392989 CA2 A>G	8	86392989	86392989	A	G	CA2	c.754A>G	NM_000067.3	NP_000058.1:p.(Asn252Asp)	NC_000008.10:g.86392989A>G	(Likely) benign	2 labs	1f48304e95
2:39262409 SOS1 G>A	2	39262409	39262409	G	A	SOS1	c.1018C>T	NM_005633.4	NP_005624.2:p.(Pro340Ser)	NC_000002.11:g.39262409G>A	(Likely) benign	2 labs	4b0ba1d8ec
19:36334485 NPHS1 G>A	19	36334485	36334485	G	A	NPHS1	c.2223C>T	NM_004646.4	NP_004637.1:p.(Thr741=)	NC_000019.9:g.36334485G>A	(Likely) benign	2 labs	4b1dc1e611
4:6290816 WFS1 G>A	4	6290816	6290816	G	A	WFS1	c.418G>A	NM_006005.3	NP_005996.2:p.(Glu140Lys)	NC_000004.11:g.6290816G>A	VUS	2 labs	4b50b3a34f
12:112892458 PTPN11 T>C	12	112892458	112892458	T	C	PTPN11	c.616T>C	NM_002834.3	NP_002825.3:p.(Leu206=)	NC_000012.11:g.112892458T>C	(Likely) benign	3 labs	1fe87b8d93
10:112581702 RBM20 C>T	10	112581702	112581702	C	T	RBM20	c.3316+9C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112581702C>T	(Likely) benign	2 labs	1f57fabc9c
18:42532819 SETBP1 G>C	18	42532819	42532819	G	C	SETBP1	c.3514G>C	NM_015559.3	NP_056374.2:p.(Gly1172Arg)	NC_000018.9:g.42532819G>C	(Likely) benign	2 labs	4bb072ccf8
14:102452379 DYNC1H1 C>T	14	102452379	102452379	C	T	DYNC1H1	c.1817C>T	NM_001376.5	NP_001367.2:p.(Thr606Ile)	NC_000014.8:g.102452379C>T	VUS	2 labs	4bb71be997
12:112915778 PTPN11 C>T	12	112915778	112915778	C	T	PTPN11	c.1051C>T	NM_002834.5	NP_002825.3:p.(Arg351Ter)	NC_000012.11:g.112915778C>T	(Likely) pathogenic	2 labs	4c42fc9508
19:14034402 CC2D1A C>CA	19	14034402	14034403	C	CA	CC2D1A	c.1807dup	NM_017721.5	NP_060191.3:p.(Ile603AsnfsTer3)	NC_000019.9:g.14034403dup	(Likely) pathogenic	2 labs	4c714caa10
2:219920336 IHH G>A	2	219920336	219920336	G	A	IHH	c.829C>T	NM_002181.4	NP_002172.2:p.(Leu277Phe)	NC_000002.11:g.219920336G>A	VUS	2 labs	4c7e7b59f0
9:35092752 PIGO G>A	9	35092752	35092752	G	A	PIGO	c.1132C>T	NM_032634.4	NP_116023.2:p.(Leu378Phe)	NC_000009.11:g.35092752G>A	VUS	2 labs	4c98533a03
17:59885994 BRIP1 C>T	17	59885994	59885994	C	T	BRIP1	c.752G>A	NM_032043.3	NP_114432.2:p.(Arg251His)	NC_000017.10:g.59885994C>T	VUS	2 labs	4ca06a685a
6:132168995 ENPP1 AG>A	6	132168995	132168997	AG	A	ENPP1	c.313+9del	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132168997del	(Likely) benign	2 labs	4cca2d919c
3:189582168 TP63 C>T	3	189582168	189582168	C	T	TP63	c.721C>T	NM_001329964.2	NP_001316893.1:p.(Arg241Trp)	NC_000003.11:g.189582168C>T	(Likely) pathogenic	2 labs	1f7aaaf6e9
X:69665056 DLG3 A>C	X	69665056	69665056	A	C	DLG3	c.5A>C	NM_021120.4	NP_066943.2:p.(His2Pro)	NC_000023.10:g.69665056A>C	VUS	2 labs	4d03011096
11:103158288 DYNC2H1 G>A	11	103158288	103158288	G	A	DYNC2H1	c.11049G>A	NM_001377.3	NP_001368.2:p.(Pro3683=)	NC_000011.9:g.103158288G>A	(Likely) pathogenic	2 labs	4d03eb43e2
12:125263099 SCARB1 C>T	12	125263099	125263099	C	T	SCARB1	c.1435G>A	NM_001082959.2	NP_001076428.1:p.(Ala479Thr)	NC_000012.11:g.125263099C>T	(Likely) benign	2 labs	1f7ce94ff9
21:27484277 APP G>C	21	27484277	27484277	G	C	APP	c.225+19C>G	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27484277G>C	(Likely) benign	2 labs	4d2e6ca620
1:2235545 SKI C>T	1	2235545	2235545	C	T	SKI	c.1474+4C>T	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2235545C>T	(Likely) benign	2 labs	20259b31c0
12:48388218 COL2A1 G>A	12	48388218	48388218	G	A	COL2A1	c.805C>T	NM_001844.5	NP_001835.3:p.(Pro269Ser)	NC_000012.11:g.48388218G>A	VUS	2 labs	4d78d07f04
7:128496968 FLNC C>T	7	128496968	128496968	C	T	FLNC	c.7554C>T	NM_001458.5	NP_001449.3:p.(Gly2518=)	NC_000007.13:g.128496968C>T	VUS	2 labs	2030dd8ec1
13:32893412 BRCA2 C>T	13	32893412	32893412	C	T	BRCA2	c.266C>T	NM_000059.4	NP_000050.3:p.(Pro89Leu)	NC_000013.10:g.32893412C>T	VUS	2 labs	4dd4cb4514
2:179425479 TTN T>C	2	179425479	179425479	T	C	TTN	c.85380A>G	NM_001267550.2	NP_001254479.2:p.(Ile28460Met)	NC_000002.11:g.179425479T>C	VUS	3 labs	4dfd21c40a
12:50344824 AQP2 G>A	12	50344824	50344824	G	A	AQP2	c.211G>A	NM_000486.6	NP_000477.1:p.(Val71Met)	NC_000012.11:g.50344824G>A	(Likely) pathogenic	2 labs	4e1d74d35f
4:1801148 FGFR3 C>T	4	1801148	1801148	C	T	FGFR3	c.277C>T	NM_000142.5	NP_000133.1:p.(Arg93Trp)	NC_000004.11:g.1801148C>T	VUS	2 labs	4e437f0dae
1:156830843 NTRK1 C>T	1	156830843	156830843	C	T	NTRK1	c.117C>T	NM_002529.4	NP_002520.2:p.(Ala39=)	NC_000001.10:g.156830843C>T	(Likely) benign	3 labs	1fa855049e
2:29295377 PCARE C>T	2	29295377	29295377	C	T	PCARE	c.1751G>A	NM_001029883.3	NP_001025054.1:p.(Ser584Asn)	NC_000002.11:g.29295377C>T	(Likely) benign	2 labs	4e54a45e25
12:25362852 KRAS T>A	12	25362852	25362852	T	A	KRAS	c.451-7A>T	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25362852T>A	(Likely) benign	2 labs	4e7080bf0f
15:45654327 GATM A>G	15	45654327	45654327	A	G	GATM	c.1252T>C	NM_001482.3	NP_001473.1:p.(Leu418=)	NC_000015.9:g.45654327A>G	(Likely) benign	3 labs	1fb96ddedd
5:138378394 SIL1 G>A	5	138378394	138378394	G	A	SIL1	c.368C>T	NM_022464.5	NP_071909.1:p.(Thr123Ile)	NC_000005.9:g.138378394G>A	(Likely) benign	2 labs	4f08917587
8:11566452 GATA4 G>A	8	11566452	11566452	G	A	GATA4	c.616+15G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11566452G>A	(Likely) benign	2 labs	4f427bc5e5
17:41245425 BRCA1 G>T	17	41245425	41245425	G	T	BRCA1	c.2123C>A	NM_007294.4	NP_009225.1:p.(Ser708Tyr)	NC_000017.10:g.41245425G>T	(Likely) benign	2 labs	4f575ea6d3
17:41246855 BRCA1 C>T	17	41246855	41246855	C	T	BRCA1	c.693G>A	NM_007294.4	NP_009225.1:p.(Thr231=)	NC_000017.10:g.41246855C>T	(Likely) benign	2 labs	4f5f099f51
6:51908518 PKHD1 C>T	6	51908518	51908518	C	T	PKHD1	c.2726G>A	NM_138694.4	NP_619639.3:p.(Arg909Gln)	NC_000006.11:g.51908518C>T	(Likely) benign	2 labs	205ce957ea
15:57953648 MYZAP A>T	15	57953648	57953648	A	T	MYZAP	c.1120A>T	NM_001018100.5	NP_001018110.1:p.(Ile374Phe)	NC_000015.9:g.57953648A>T	(Likely) benign	3 labs	1fbbe6696c
4:57335853 SRP72 G>T	4	57335853	57335853	G	T	SRP72	c.144G>T	NM_006947.4	NP_008878.3:p.(Leu48=)	NC_000004.11:g.57335853G>T	(Likely) benign	2 labs	206f295692
2:74692363 MOGS G>C	2	74692363	74692363	G	C	MOGS	c.12C>G	NM_006302.3	NP_006293.2:p.(Gly4=)	NC_000002.11:g.74692363G>C	(Likely) benign	2 labs	206e5f7ddc
17:29684326 NF1 C>T	17	29684326	29684326	C	T	NF1	c.7846C>T	NM_000267.3	NP_000258.1:p.(Arg2616Ter)	NC_000017.10:g.29684326C>T	(Likely) pathogenic	3 labs	1fbc60179c
11:1775352 CTSD C>T	11	1775352	1775352	C	T	CTSD	c.844G>A	NM_001909.5	NP_001900.1:p.(Gly282Arg)	NC_000011.9:g.1775352C>T	(Likely) benign	2 labs	206fd6f453
9:137711997 COL5A1 G>C	9	137711997	137711997	G	C	COL5A1	c.4482G>C	NM_000093.5	NP_000084.3:p.(Pro1494=)	NC_000009.11:g.137711997G>C	(Likely) benign	2 labs	1fc1864f86
1:152284040 FLG CT>C	1	152284040	152284041	CT	C	FLG	c.3321del	NM_002016.2	NP_002007.1:p.(Gly1109GlufsTer13)	NC_000001.10:g.152284041del	(Likely) pathogenic	3 labs	1fc93cba17
15:85400496 ALPK3 C>T	15	85400496	85400496	C	T	ALPK3	c.2527C>T	NM_020778.5	NP_065829.4:p.(Arg843Trp)	NC_000015.9:g.85400496C>T	VUS	2 labs	1fcf471c27
3:15499713 COLQ T>C	3	15499713	15499713	T	C	COLQ	c.934A>G	NM_005677.4	NP_005668.2:p.(Ser312Gly)	NC_000003.11:g.15499713T>C	(Likely) benign	2 labs	502e993d01
9:370226 DOCK8 A>G	9	370226	370226	A	G	DOCK8	c.1798-4A>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.370226A>G	VUS	2 labs	1fd93ef91a
1:45974471 MMACHC A>G	1	45974471	45974471	A	G	MMACHC	c.433A>G	NM_015506.3	NP_056321.2:p.(Ile145Val)	NC_000001.10:g.45974471A>G	VUS	2 labs	503ccd39fd
16:2142493 PKD1 G>A	16	2142493	2142493	G	A	PKD1	c.11257C>T	NM_001009944.3	NP_001009944.3:p.(Arg3753Trp)	NC_000016.9:g.2142493G>A	(Likely) pathogenic	2 labs	5060526a3b
6:32024552 TNXB C>T	6	32024552	32024552	C	T	TNXB	c.7954G>A	NM_019105.8	NP_061978.6:p.(Glu2652Lys)	NC_000006.11:g.32024552C>T	(Likely) benign	3 labs	20878b8f50
1:55524197 PCSK9 A>G	1	55524197	55524197	A	G	PCSK9	c.1380A>G	NM_174936.4	NP_777596.2:p.(Val460=)	NC_000001.10:g.55524197A>G	(Likely) benign	2 labs	1ff35b7513
12:122254983 SETD1B C>G	12	122254983	122254983	C	G	SETD1B	c.2760C>G	NM_001353345.2	NP_001340274.1:p.(Asp920Glu)	NC_000012.11:g.122254983C>G	(Likely) benign	2 labs	1ff8326e28
10:92676019 ANKRD1 G>A	10	92676019	92676019	G	A	ANKRD1	c.560C>T	NM_014391.3	NP_055206.2:p.(Ser187Phe)	NC_000010.10:g.92676019G>A	(Likely) benign	4 labs	1ffa5ee1fd
2:179482678 TTN C>T	2	179482678	179482678	C	T	TTN	c.47400G>A	NM_001267550.2	NP_001254479.2:p.(Lys15800=)	NC_000002.11:g.179482678C>T	(Likely) benign	6 labs	1ffb421546
10:16960686 CUBN ATAACCTC>A	10	16960686	16960694	ATAACCTC	A	CUBN	c.6928_6934del	NM_001081.4	NP_001072.2:p.(Glu2310CysfsTer3)	NC_000010.10:g.16960688_16960694del	(Likely) pathogenic	2 labs	2099d7396a
X:138286432 FGF13 G>A	X	138286432	138286432	G	A	FGF13	c.-163C>T	NM_001139498.2	NP_001132970.1:p.?	NC_000023.10:g.138286432G>A	(Likely) benign	2 labs	1ffd7dd6ab
1:147380309 GJA8 G>A	1	147380309	147380309	G	A	GJA8	c.227G>A	NM_005267.5	NP_005258.2:p.(Arg76His)	NC_000001.10:g.147380309G>A	(Likely) pathogenic	2 labs	510ceba81c
2:167277816 SCN7A T>A	2	167277816	167277816	T	A	SCN7A	c.3028-9A>T	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167277816T>A	(Likely) benign	2 labs	510ea862b5
4:79173606 FRAS1 C>T	4	79173606	79173606	C	T	FRAS1	c.370C>T	NM_025074.7	NP_079350.5:p.(Arg124Ter)	NC_000004.11:g.79173606C>T	(Likely) pathogenic	2 labs	20ae3794d8
12:110226380 TRPV4 A>C	12	110226380	110226380	A	C	TRPV4	c.2033T>G	NM_021625.5	NP_067638.3:p.(Ile678Ser)	NC_000012.11:g.110226380A>C	VUS	2 labs	51ccf9320f
1:92735273 GLMN A>T	1	92735273	92735273	A	T	GLMN	c.977+7T>A	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92735273A>T	(Likely) benign	2 labs	5200638811
17:41243952 BRCA1 G>A	17	41243952	41243952	G	A	BRCA1	c.3596C>T	NM_007294.3	NP_009225.1:p.(Ala1199Val)	NC_000017.10:g.41243952G>A	(Likely) benign	2 labs	20be136cf4
17:33434105 RAD51D G>A	17	33434105	33434105	G	A	RAD51D	c.382C>T	NM_002878.4	NP_002869.3:p.(Leu128=)	NC_000017.10:g.33434105G>A	(Likely) benign	2 labs	521b0aac05
10:69909778 MYPN G>A	10	69909778	69909778	G	A	MYPN	c.364-19G>A	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69909778G>A	(Likely) benign	3 labs	2018895407
3:53756472 CACNA1D A>G	3	53756472	53756472	A	G	CACNA1D	c.1697A>G	NM_000720.4	NP_000711.1:p.(Asn566Ser)	NC_000003.11:g.53756472A>G	VUS	2 labs	201bbeb5b8
7:151878606 KMT2C T>G	7	151878606	151878606	T	G	KMT2C	c.6339A>C	NM_170606.3	NP_733751.2:p.(Ser2113=)	NC_000007.13:g.151878606T>G	(Likely) benign	3 labs	2027a7de0e
X:153578510 FLNA C>T	X	153578510	153578510	C	T	FLNA	c.7198G>A	NM_001456.4	NP_001447.2:p.(Gly2400Ser)	NC_000023.10:g.153578510C>T	(Likely) benign	3 labs	202fb79a47
7:128478048 FLNC T>C	7	128478048	128478048	T	C	FLNC	c.977T>C	NM_001458.4	NP_001449.3:p.(Val326Ala)	NC_000007.13:g.128478048T>C	VUS	2 labs	20f3785a3e
4:6302749 WFS1 GCTCT>G	4	6302749	6302755	GCTCT	G	WFS1	c.1230_1233del	NM_006005.3	NP_005996.2:p.(Val412SerfsTer29)	NC_000004.11:g.6302752_6302755del	(Likely) pathogenic	2 labs	533041f05f
15:99491941 IGF1R C>T	15	99491941	99491941	C	T	IGF1R	c.3722+4C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99491941C>T	VUS	2 labs	533282781b
15:48789528 FBN1 C>T	15	48789528	48789528	C	T	FBN1	c.2228G>A	NM_000138.5	NP_000129.3:p.(Arg743His)	NC_000015.9:g.48789528C>T	(Likely) benign	2 labs	5343dbd3c4
7:100417409 EPHB4 G>C	7	100417409	100417409	G	C	EPHB4	c.1067C>G	NM_004444.5	NP_004435.3:p.(Thr356Ser)	NC_000007.13:g.100417409G>C	(Likely) benign	2 labs	203a65e2a0
22:38541484 PLA2G6 A>G	22	38541484	38541484	A	G	PLA2G6	c.386T>C	NM_003560.4	NP_003551.2:p.(Leu129Pro)	NC_000022.10:g.38541484A>G	(Likely) pathogenic	2 labs	535c2ea10c
2:48025974 MSH6 T>C	2	48025974	48025974	T	C	MSH6	c.852T>C	NM_000179.3	NP_000170.1:p.(Asp284=)	NC_000002.11:g.48025974T>C	(Likely) benign	2 labs	53a0e8da1f
15:51502986 CYP19A1 G>A	15	51502986	51502986	G	A	CYP19A1	c.*19C>T	NM_031226.3	NP_112503.1:p.?	NC_000015.9:g.51502986G>A	(Likely) benign	2 labs	2042695bca
11:44129545 EXT2 C>T	11	44129545	44129545	C	T	EXT2	c.283C>T	NM_207122.2	NP_997005.1:p.(Arg95Cys)	NC_000011.9:g.44129545C>T	VUS	2 labs	53d1d03e6d
1:112323391 KCND3 C>T	1	112323391	112323391	C	T	KCND3	c.1292G>A	NM_004980.5	NP_004971.2:p.(Arg431His)	NC_000001.10:g.112323391C>T	VUS	2 labs	204a7d0020
5:112179680 APC A>G	5	112179680	112179680	A	G	APC	c.8389A>G	NM_000038.6	NP_000029.2:p.(Ser2797Gly)	NC_000005.9:g.112179680A>G	(Likely) benign	2 labs	53e0d1537c
2:179596319 TTN A>G	2	179596319	179596319	A	G	TTN	c.17183-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179596319A>G	(Likely) benign	6 labs	204c9167d4
22:50893287 SBF1 T>C	22	50893287	50893287	T	C	SBF1	c.4768A>G	NM_002972.4	NP_002963.2:p.(Thr1590Ala)	NC_000022.10:g.50893287T>C	VUS	2 labs	543e559942
1:229567467 ACTA1 C>A	1	229567467	229567467	C	A	ACTA1	c.990+1G>T	NM_001100.4	NP_001091.1:p.?	NC_000001.10:g.229567467C>A	(Likely) pathogenic	2 labs	544a8fd506
4:3494917 DOK7 C>T	4	3494917	3494917	C	T	DOK7	c.1204C>T	NM_173660.5	NP_775931.3:p.(Arg402Trp)	NC_000004.11:g.3494917C>T	(Likely) benign	2 labs	54535dc115
15:72192242 MYO9A G>A	15	72192242	72192242	G	A	MYO9A	c.3256C>T	NM_006901.4	NP_008832.2:p.(Arg1086Cys)	NC_000015.9:g.72192242G>A	VUS	2 labs	546fcab99f
9:100840588 NANS T>C	9	100840588	100840588	T	C	NANS	c.562T>C	NM_018946.4	NP_061819.2:p.(Tyr188His)	NC_000009.11:g.100840588T>C	(Likely) pathogenic	2 labs	548b561e05
12:103237568 PAH C>T	12	103237568	103237568	C	T	PAH	c.1066-11G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103237568C>T	(Likely) pathogenic	2 labs	2110d80fc3
2:179400097 TTN C>T	2	179400097	179400097	C	T	TTN	c.93541G>A	NM_133378.4	NP_596869.4:p.(Val31181Met)	NC_000002.11:g.179400097C>T	(Likely) benign	4 labs	20555a8148
2:145156671 ZEB2 G>A	2	145156671	145156671	G	A	ZEB2	c.2083C>T	NM_014795.4	NP_055610.1:p.(Arg695Ter)	NC_000002.11:g.145156671G>A	(Likely) pathogenic	2 labs	54cbf70788
9:35801701 NPR2 C>T	9	35801701	35801701	C	T	NPR2	c.1498C>T	NM_003995.4	NP_003986.2:p.(Gln500Ter)	NC_000009.11:g.35801701C>T	(Likely) pathogenic	2 labs	54ef680844
8:87656917 CNGB3 A>C	8	87656917	87656917	A	C	CNGB3	c.991-3T>G	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87656917A>C	(Likely) pathogenic	2 labs	5523472075
14:23855274 MYH6 C>T	14	23855274	23855274	C	T	MYH6	c.5026G>A	NM_002471.4	NP_002462.2:p.(Val1676Met)	NC_000014.8:g.23855274C>T	VUS	2 labs	205e63d8e3
19:35530514 SCN1B T>G	19	35530514	35530514	T	G	SCN1B	c.591-25T>G	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530514T>G	(Likely) benign	2 labs	213067cbb3
X:77378822 PGK1 C>T	X	77378822	77378822	C	T	PGK1	c.887C>T	NM_000291.4	NP_000282.1:p.(Ala296Val)	NC_000023.10:g.77378822C>T	VUS	2 labs	55d277299a
3:14170981 TMEM43 C>T	3	14170981	14170981	C	T	TMEM43	c.82C>T	NM_024334.3	NP_077310.1:p.(Arg28Trp)	NC_000003.11:g.14170981C>T	(Likely) benign	5 labs	2069d19093
11:6412797 SMPD1 G>A	11	6412797	6412797	G	A	SMPD1	c.502G>A	NM_000543.5	NP_000534.3:p.(Gly168Arg)	NC_000011.9:g.6412797G>A	(Likely) pathogenic	2 labs	55ed5f43d1
3:114069607 ZBTB20 C>T	3	114069607	114069607	C	T	ZBTB20	c.1099G>A	NM_001164343.2	NP_001157815.1:p.(Glu367Lys)	NC_000003.11:g.114069607C>T	(Likely) benign	2 labs	56163f512c
5:6632843 NSUN2 G>C	5	6632843	6632843	G	C	NSUN2	c.123C>G	NM_017755.6	NP_060225.4:p.(Ile41Met)	NC_000005.9:g.6632843G>C	VUS	2 labs	5675281cd5
4:1801030 FGFR3 C>T	4	1801030	1801030	C	T	FGFR3	c.159C>T	NM_000142.5	NP_000133.1:p.(Ser53=)	NC_000004.11:g.1801030C>T	(Likely) benign	2 labs	5698967877
1:237778082 RYR2 G>A	1	237778082	237778082	G	A	RYR2	c.5654G>A	NM_001035.3	NP_001026.2:p.(Gly1885Glu)	NC_000001.10:g.237778082G>A	(Likely) benign	6 labs	207ad44d99
19:18266699 PIK3R2 C>T	19	18266699	18266699	C	T	PIK3R2	c.10C>T	NM_005027.4	NP_005018.2:p.(Pro4Ser)	NC_000019.9:g.18266699C>T	(Likely) benign	2 labs	56d502cf6a
13:39263731 FREM2 C>T	13	39263731	39263731	C	T	FREM2	c.2250C>T	NM_207361.6	NP_997244.4:p.(Asp750=)	NC_000013.10:g.39263731C>T	(Likely) benign	3 labs	20818c140b
15:89382129 ACAN C>A	15	89382129	89382129	C	A	ACAN	c.306C>A	NM_001369268.1	NP_001356197.1:p.(Asp102Glu)	NC_000015.9:g.89382129C>A	(Likely) benign	2 labs	570d220f58
7:151261273 PRKAG2 A>T	7	151261273	151261273	A	T	PRKAG2	c.1475T>A	NM_016203.4	NP_057287.2:p.(Ile492Asn)	NC_000007.13:g.151261273A>T	VUS	3 labs	20884634ca
15:90631593 IDH2 C>T	15	90631593	90631593	C	T	IDH2	c.676G>A	NM_002168.4	NP_002159.2:p.(Glu226Lys)	NC_000015.9:g.90631593C>T	(Likely) benign	2 labs	575f85a159
19:34003517 PEPD G>A	19	34003517	34003517	G	A	PEPD	c.183C>T	NM_000285.4	NP_000276.2:p.(Thr61=)	NC_000019.9:g.34003517G>A	(Likely) benign	2 labs	208f9bc71f
21:47421159 COL6A1 G>A	21	47421159	47421159	G	A	COL6A1	c.1823-8G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421159G>A	(Likely) benign	2 labs	57bba20297
X:151336758 GABRA3 T>C	X	151336758	151336758	T	C	GABRA3	c.1421A>G	NM_000808.4	NP_000799.1:p.(Tyr474Cys)	NC_000023.10:g.151336758T>C	(Likely) pathogenic	2 labs	2166c6c5ee
X:54481930 FGD1 G>A	X	54481930	54481930	G	A	FGD1	c.1966C>T	NM_004463.3	NP_004454.2:p.(Arg656Ter)	NC_000023.10:g.54481930G>A	(Likely) pathogenic	2 labs	5880076190
7:143039456 CLCN1 C>T	7	143039456	143039456	C	T	CLCN1	c.1797-9C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143039456C>T	(Likely) benign	2 labs	58b5e051eb
3:14190225 XPC G>A	3	14190225	14190225	G	A	XPC	c.2257C>T	NM_004628.5	NP_004619.3:p.(Arg753Trp)	NC_000003.11:g.14190225G>A	VUS	2 labs	58d7250803
17:73279624 SLC25A19 A>G	17	73279624	73279624	A	G	SLC25A19	c.339T>C	NM_001126121.2	NP_001119593.1:p.(Tyr113=)	NC_000017.10:g.73279624A>G	(Likely) benign	2 labs	20b0745957
9:133914570 LAMC3 G>A	9	133914570	133914570	G	A	LAMC3	c.1218G>A	NM_006059.4	NP_006050.3:p.(Thr406=)	NC_000009.11:g.133914570G>A	(Likely) benign	2 labs	20b29da25d
9:140671147 EHMT1 C>T	9	140671147	140671147	C	T	EHMT1	c.1869C>T	NM_024757.5	NP_079033.4:p.(Asn623=)	NC_000009.11:g.140671147C>T	(Likely) benign	2 labs	594b99d24d
7:47925609 PKD1L1 G>A	7	47925609	47925609	G	A	PKD1L1	c.2880C>T	NM_138295.5	NP_612152.1:p.(Leu960=)	NC_000007.13:g.47925609G>A	(Likely) benign	2 labs	59608c46ba
2:179469826 TTN T>A	2	179469826	179469826	T	A	TTN	c.54078A>T	NM_001267550.2	NP_001254479.2:p.(Ala18026=)	NC_000002.11:g.179469826T>A	(Likely) benign	3 labs	595a833b93
19:38964109 RYR1 T>C	19	38964109	38964109	T	C	RYR1	c.3858T>C	NM_000540.3	NP_000531.2:p.(Leu1286=)	NC_000019.9:g.38964109T>C	(Likely) benign	2 labs	599d8384ec
4:146572227 MMAA G>A	4	146572227	146572227	G	A	MMAA	c.747G>A	NM_172250.3	NP_758454.1:p.(Ser249=)	NC_000004.11:g.146572227G>A	(Likely) benign	3 labs	20d4160823
19:38954415 RYR1 C>T	19	38954415	38954415	C	T	RYR1	c.2711C>T	NM_000540.3	NP_000531.2:p.(Pro904Leu)	NC_000019.9:g.38954415C>T	VUS	2 labs	5a074ed239
15:90196101 KIF7 G>A	15	90196101	90196101	G	A	KIF7	c.61C>T	NM_198525.3	NP_940927.2:p.(Arg21Ter)	NC_000015.9:g.90196101G>A	(Likely) pathogenic	2 labs	5a0d8b0a96
16:56938290 SLC12A3 G>A	16	56938290	56938290	G	A	SLC12A3	c.2884-17G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56938290G>A	(Likely) benign	2 labs	21ba6beaf5
9:21971114 CDKN2A CGGGTCGGGTGAGAGTGGCG>C	9	21971114	21971140	CGGGTCGGGTGAGAGTGGCG	C	CDKN2A	c.225_243del	NM_000077.5	NP_000068.1:p.(Ala76CysfsTer64)	NC_000009.11:g.21971122_21971140del	(Likely) pathogenic	6 labs	20d6e70182
16:88872511 CDT1 T>C	16	88872511	88872511	T	C	CDT1	c.915T>C	NM_030928.4	NP_112190.2:p.(His305=)	NC_000016.9:g.88872511T>C	(Likely) benign	3 labs	20d7ca9a59
2:166618454 GALNT3 C>A	2	166618454	166618454	C	A	GALNT3	c.799G>T	NM_004482.4	NP_004473.2:p.(Val267Phe)	NC_000002.11:g.166618454C>A	(Likely) benign	2 labs	5a4f86c5da
1:43396841 SLC2A1 G>A	1	43396841	43396841	G	A	SLC2A1	c.151C>T	NM_006516.4	NP_006507.2:p.(Arg51Cys)	NC_000001.10:g.43396841G>A	VUS	2 labs	5a7b3cb149
X:32482834 DMD A>G	X	32482834	32482834	A	G	DMD	c.3163-18T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32482834A>G	(Likely) benign	3 labs	20e3a3fe52
1:94496008 ABCA4 C>T	1	94496008	94496008	C	T	ABCA4	c.4328G>A	NM_000350.3	NP_000341.2:p.(Arg1443His)	NC_000001.10:g.94496008C>T	(Likely) pathogenic	2 labs	5b35a7fc14
X:153593597 FLNA A>G	X	153593597	153593597	A	G	FLNA	c.1598T>C	NM_001456.4	NP_001447.2:p.(Leu533Pro)	NC_000023.10:g.153593597A>G	VUS	2 labs	20f05cee05
11:108196145 ATM C>T	11	108196145	108196145	C	T	ATM	c.6681C>T	NM_000051.4	NP_000042.3:p.(Arg2227=)	NC_000011.9:g.108196145C>T	(Likely) benign	2 labs	5b840df2d2
17:62022382 SCN4A G>A	17	62022382	62022382	G	A	SCN4A	c.3759C>T	NM_000334.4	NP_000325.4:p.(Ala1253=)	NC_000017.10:g.62022382G>A	(Likely) benign	2 labs	5be2d7a128
1:237732558 RYR2 T>C	1	237732558	237732558	T	C	RYR2	c.3537T>C	NM_001035.3	NP_001026.2:p.(Gly1179=)	NC_000001.10:g.237732558T>C	(Likely) benign	2 labs	5c2143018f
16:89620360 SPG7 A>AT	16	89620360	89620361	A	AT	SPG7	c.2096dup	NM_003119.4	NP_003110.1:p.(Met699IlefsTer4)	NC_000016.9:g.89620361dup	(Likely) pathogenic	2 labs	5c81c504c3
22:41531859 EP300 C>T	22	41531859	41531859	C	T	EP300	c.1571C>T	NM_001429.4	NP_001420.2:p.(Thr524Met)	NC_000022.10:g.41531859C>T	(Likely) benign	2 labs	5ca866cc9d
16:88873824 CDT1 C>G	16	88873824	88873824	C	G	CDT1	c.1411C>G	NM_030928.4	NP_112190.2:p.(Pro471Ala)	NC_000016.9:g.88873824C>G	(Likely) benign	2 labs	5cc86f78e9
1:236906250 ACTN2 T>A	1	236906250	236906250	T	A	ACTN2	c.1162T>A	NM_001103.4	NP_001094.1:p.(Trp388Arg)	NC_000001.10:g.236906250T>A	VUS	5 labs	2105a55fcd
16:2168766 PKD1 AC>A	16	2168766	2168769	AC	A	PKD1	c.439del	NM_001009944.3	NP_001009944.3:p.(Val147TrpfsTer143)	NC_000016.9:g.2168769del	(Likely) pathogenic	2 labs	221f4a73a6
17:39914042 JUP G>A	17	39914042	39914042	G	A	JUP	c.1774-6C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914042G>A	(Likely) benign	5 labs	210d4ad1df
16:69660329 NFAT5 A>G	16	69660329	69660329	A	G	NFAT5	c.151A>G	NM_138713.4	NP_619727.2:p.(Lys51Glu)	NC_000016.9:g.69660329A>G	VUS	2 labs	211064be7e
9:123800180 C5 T>A	9	123800180	123800180	T	A	C5	c.471A>T	NM_001735.3	NP_001726.2:p.(Arg157Ser)	NC_000009.11:g.123800180T>A	VUS	2 labs	5d3b5a22e2
10:50863188 CHAT G>A	10	50863188	50863188	G	A	CHAT	c.1436G>A	NM_001142933.1	NP_001136405.1:p.(Arg479Gln)	NC_000010.10:g.50863188G>A	(Likely) benign	2 labs	22293001f9
1:26140573 SELENON C>A	1	26140573	26140573	C	A	SELENON	c.1506C>A	NM_020451.3	NP_065184.2:p.(Asn502Lys)	NC_000001.10:g.26140573C>A	(Likely) benign	4 labs	211453b7a2
1:228528298 OBSCN T>C	1	228528298	228528298	T	C	OBSCN	c.20378T>C	NM_001386125.1	NP_001373054.1:p.(Val6793Ala)	NC_000001.10:g.228528298T>C	(Likely) benign	2 labs	5d9eb9dfb1
11:62389419 B3GAT3 T>A	11	62389419	62389419	T	A	B3GAT3				NC_000011.9:g.62389419T>A	(Likely) pathogenic	4 labs	2121a8cf84
22:32218707 DEPDC5 G>A	22	32218707	32218707	G	A	DEPDC5	c.2035G>A	NM_001242896.3	NP_001229825.1:p.(Gly679Ser)	NC_000022.10:g.32218707G>A	(Likely) benign	2 labs	35ef41dc8c
16:70304179 AARS1 G>A	16	70304179	70304179	G	A	AARS1	c.736C>T	NM_001605.3	NP_001596.2:p.(Arg246Ter)	NC_000016.9:g.70304179G>A	VUS	2 labs	2128ca35db
16:919908 LMF1 C>T	16	919908	919908	C	T	LMF1	c.1391G>A	NM_022773.4	NP_073610.2:p.(Trp464Ter)	NC_000016.9:g.919908C>T	(Likely) pathogenic	2 labs	5e4534aee1
X:136649711 ZIC3 G>A	X	136649711	136649711	G	A	ZIC3	c.861G>A	NM_003413.4	NP_003404.1:p.(Val287=)	NC_000023.10:g.136649711G>A	(Likely) benign	3 labs	2231a85db1
1:156106995 LMNA G>C	1	156106995	156106995	G	C	LMNA	c.1580G>C	NM_170707.4	NP_733821.1:p.(Arg527Pro)	NC_000001.10:g.156106995G>C	(Likely) pathogenic	2 labs	5eb9dc2bd3
12:103288534 PAH G>A	12	103288534	103288534	G	A	PAH	c.331C>T	NM_000277.3	NP_000268.1:p.(Arg111Ter)	NC_000012.11:g.103288534G>A	(Likely) pathogenic	2 labs	2233bc7ce4
15:89401929 ACAN C>T	15	89401929	89401929	C	T	ACAN	c.6113C>T	NM_001369268.1	NP_001356197.1:p.(Thr2038Ile)	NC_000015.9:g.89401929C>T	VUS	2 labs	5f1623b17c
8:61765077 CHD7 C>G	8	61765077	61765077	C	G	CHD7	c.5915C>G	NM_017780.4	NP_060250.2:p.(Ala1972Gly)	NC_000008.10:g.61765077C>G	(Likely) benign	2 labs	5f9097ef53
14:77751925 POMT2 C>T	14	77751925	77751925	C	T	POMT2	c.1383G>A	NM_013382.7	NP_037514.2:p.(Arg461=)	NC_000014.8:g.77751925C>T	(Likely) benign	3 labs	213643ae28
1:108700103 SLC25A24 C>T	1	108700103	108700103	C	T	SLC25A24	c.650G>A	NM_013386.5	NP_037518.3:p.(Arg217His)	NC_000001.10:g.108700103C>T	(Likely) pathogenic	2 labs	5fad6346d0
16:2150089 PKD1 G>C	16	2150089	2150089	G	C	PKD1	c.9713-17C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2150089G>C	(Likely) benign	2 labs	5fc6163d94
6:7580795 DSP C>G	6	7580795	7580795	C	G	DSP	c.4372C>G	NM_004415.4	NP_004406.2:p.(Arg1458Gly)	NC_000006.11:g.7580795C>G	(Likely) benign	5 labs	21408bbb0c
2:238280539 COL6A3 T>A	2	238280539	238280539	T	A	COL6A3	c.4121A>T	NM_004369.4	NP_004360.2:p.(Asp1374Val)	NC_000002.11:g.238280539T>A	VUS	2 labs	602b3c7e51
17:48431021 XYLT2 G>A	17	48431021	48431021	G	A	XYLT2	c.166G>A	NM_022167.4	NP_071450.2:p.(Asp56Asn)	NC_000017.10:g.48431021G>A	(Likely) benign	2 labs	6042f3ef30
15:28412927 HERC2 G>A	15	28412927	28412927	G	A	HERC2	c.10460C>T	NM_004667.6	NP_004658.3:p.(Ser3487Leu)	NC_000015.9:g.28412927G>A	VUS	2 labs	2147051b32
12:52183161 SCN8A A>G	12	52183161	52183161	A	G	SCN8A	c.4378A>G	NM_001330260.2	NP_001317189.1:p.(Ile1460Val)	NC_000012.11:g.52183161A>G	(Likely) pathogenic	2 labs	606d763e6e
10:69909844 MYPN C>A	10	69909844	69909844	C	A	MYPN	c.411C>A	NM_001256268.2	NP_001243197.1:p.(Ile137=)	NC_000010.10:g.69909844C>A	(Likely) benign	5 labs	2147bd7e78
8:59404935 CYP7A1 G>C	8	59404935	59404935	G	C	CYP7A1	c.1192C>G	NM_000780.4	NP_000771.2:p.(Pro398Ala)	NC_000008.10:g.59404935G>C	VUS	2 labs	214bae918c
4:88929246 PKD2 G>T	4	88929246	88929246	G	T	PKD2	c.361G>T	NM_000297.4	NP_000288.1:p.(Gly121Cys)	NC_000004.11:g.88929246G>T	(Likely) benign	2 labs	215069e02b
17:70117608 SOX9 A>G	17	70117608	70117608	A	G	SOX9	c.76A>G	NM_000346.4	NP_000337.1:p.(Met26Val)	NC_000017.10:g.70117608A>G	(Likely) benign	2 labs	60b9f045eb
6:32064328 TNXB G>C	6	32064328	32064328	G	C	TNXB	c.1302C>G	NM_019105.8	NP_061978.6:p.(Ala434=)	NC_000006.11:g.32064328G>C	(Likely) benign	2 labs	22698e33b7
15:75185670 MPI A>G	15	75185670	75185670	A	G	MPI	c.670+9A>G	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75185670A>G	(Likely) benign	2 labs	2150d4ef65
19:15302844 NOTCH3 T>C	19	15302844	15302844	T	C	NOTCH3	c.606A>G	NM_000435.3	NP_000426.2:p.(Ala202=)	NC_000019.9:g.15302844T>C	(Likely) benign	3 labs	21514fa09a
10:68381473 CTNNA3 G>A	10	68381473	68381473	G	A	CTNNA3	c.1351C>T	NM_013266.4	NP_037398.2:p.(His451Tyr)	NC_000010.10:g.68381473G>A	VUS	2 labs	226fe0bb39
1:216062040 USH2A T>TG	1	216062040	216062044	T	TG	USH2A	c.7950dup	NM_206933.4	NP_996816.3:p.(Asn2651GlnfsTer10)	NC_000001.10:g.216062044dup	(Likely) pathogenic	2 labs	610ac8e628
16:23646461 PALB2 C>T	16	23646461	23646461	C	T	PALB2	c.1406G>A	NM_024675.4	NP_078951.2:p.(Cys469Tyr)	NC_000016.9:g.23646461C>T	(Likely) benign	2 labs	6119bfed2b
1:247587795 NLRP3 G>A	1	247587795	247587795	G	A	NLRP3	c.1044G>A	NM_001243133.2	NP_001230062.1:p.(Thr348=)	NC_000001.10:g.247587795G>A	(Likely) benign	2 labs	2274c944af
12:57892370 MARS1 A>G	12	57892370	57892370	A	G	MARS1	c.1055A>G	NM_004990.4	NP_004981.2:p.(Asp352Gly)	NC_000012.11:g.57892370A>G	(Likely) pathogenic	2 labs	6130e3d23f
2:189868769 COL3A1 C>T	2	189868769	189868769	C	T	COL3A1	c.2723C>T	NM_000090.3	NP_000081.1:p.(Ala908Val)	NC_000002.11:g.189868769C>T	VUS	2 labs	22783e21ac
12:2614110 CACNA1C G>A	12	2614110	2614110	G	A	CACNA1C	c.1216G>A	NM_000719.7	NP_000710.5:p.(Gly406Arg)	NC_000012.11:g.2614110G>A	(Likely) pathogenic	2 labs	6181fb5653
16:89348018 ANKRD11 C>T	16	89348018	89348018	C	T	ANKRD11	c.4932G>A	NM_013275.6	NP_037407.4:p.(Gly1644=)	NC_000016.9:g.89348018C>T	(Likely) benign	2 labs	618c1958f2
15:91545411 VPS33B C>T	15	91545411	91545411	C	T	VPS33B	c.1274G>A	NM_018668.5	NP_061138.3:p.(Ser425Asn)	NC_000015.9:g.91545411C>T	(Likely) benign	3 labs	2172eff49b
10:76788860 KAT6B C>T	10	76788860	76788860	C	T	KAT6B	c.4278C>T	NM_012330.4	NP_036462.2:p.(Ala1426=)	NC_000010.10:g.76788860C>T	(Likely) benign	2 labs	61d484f0fd
X:41206199 DDX3X C>T	X	41206199	41206199	C	T	DDX3X	c.1703C>T	NM_001356.5	NP_001347.3:p.(Pro568Leu)	NC_000023.10:g.41206199C>T	(Likely) pathogenic	2 labs	621b2527d4
14:23851679 MYH6 C>G	14	23851679	23851679	C	G	MYH6	c.5754G>C	NM_002471.4	NP_002462.2:p.(Gln1918His)	NC_000014.8:g.23851679C>G	VUS	2 labs	2188416146
7:47847885 PKD1L1 C>A	7	47847885	47847885	C	A	PKD1L1	c.7787G>T	NM_138295.5	NP_612152.1:p.(Arg2596Leu)	NC_000007.13:g.47847885C>A	(Likely) benign	2 labs	6236f7148c
2:179434890 TTN A>G	2	179434890	179434890	A	G	TTN	c.75969T>C	NM_001267550.1	NP_001254479.1:p.(Val25323=)	NC_000002.11:g.179434890A>G	(Likely) benign	2 labs	2284764a74
13:111090965 COL4A2 G>A	13	111090965	111090965	G	A	COL4A2	c.862G>A	NM_001846.4	NP_001837.2:p.(Gly288Ser)	NC_000013.10:g.111090965G>A	VUS	3 labs	624b444cf4
10:89475544 PAPSS2 G>A	10	89475544	89475544	G	A	PAPSS2	c.809G>A	NM_001015880.2	NP_001015880.1:p.(Gly270Asp)	NC_000010.10:g.89475544G>A	(Likely) pathogenic	2 labs	627c5e1d66
8:61655471 CHD7 C>T	8	61655471	61655471	C	T	CHD7	c.1480C>T	NM_017780.4	NP_060250.2:p.(Arg494Ter)	NC_000008.10:g.61655471C>T	(Likely) pathogenic	2 labs	6282a84dcc
8:106431452 ZFPM2 C>G	8	106431452	106431452	C	G	ZFPM2	c.121C>G	NM_012082.4	NP_036214.2:p.(Pro41Ala)	NC_000008.10:g.106431452C>G	(Likely) benign	2 labs	628fb85252
X:70356147 MED12 C>A	X	70356147	70356147	C	A	MED12	c.5042C>A	NM_005120.3	NP_005111.2:p.(Thr1681Asn)	NC_000023.10:g.70356147C>A	VUS	2 labs	629abed33f
2:47596694 EPCAM C>A	2	47596694	47596694	C	A	EPCAM	c.50C>A	NM_002354.2	NP_002345.2:p.(Thr17Lys)	NC_000002.11:g.47596694C>A	(Likely) benign	2 labs	2289c401f5
14:92361279 FBLN5 C>G	14	92361279	92361279	C	G	FBLN5	c.502+15G>C	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92361279C>G	(Likely) benign	2 labs	228af6dd44
9:139418361 NOTCH1 C>G	9	139418361	139418361	C	G	NOTCH1	c.211G>C	NM_017617.5	NP_060087.3:p.(Ala71Pro)	NC_000009.11:g.139418361C>G	VUS	2 labs	62c99868ec
7:50595920 DDC G>A	7	50595920	50595920	G	A	DDC	c.629C>T	NM_001082971.2	NP_001076440.2:p.(Pro210Leu)	NC_000007.13:g.50595920G>A	(Likely) benign	2 labs	62d1e6895e
5:176943944 DDX41 C>T	5	176943944	176943944	C	T	DDX41	c.-445G>A	NM_001321830.2	NP_001308759.1:p.?	NC_000005.9:g.176943944C>T	(Likely) pathogenic	3 labs	21932591bb
2:179517277 TTN A>T	2	179517277	179517277	A	T	TTN	c.39044-9T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179517277A>T	(Likely) benign	6 labs	2194541ebb
12:115112507 TBX3 C>G	12	115112507	115112507	C	G	TBX3	c.1173G>C	NM_005996.4	NP_005987.3:p.(Ala391=)	NC_000012.11:g.115112507C>G	(Likely) benign	2 labs	6338a7fd74
1:156105060 LMNA G>T	1	156105060	156105060	G	T	LMNA	c.893G>T	NM_170707.4	NP_733821.1:p.(Arg298Leu)	NC_000001.10:g.156105060G>T	VUS	2 labs	63471bf0c4
22:21341816 LZTR1 C>T	22	21341816	21341816	C	T	LZTR1	c.344C>T	NM_006767.4	NP_006758.2:p.(Pro115Leu)	NC_000022.10:g.21341816C>T	VUS	2 labs	63728f8ff9
8:106815286 ZFPM2 T>C	8	106815286	106815286	T	C	ZFPM2	c.2976T>C	NM_012082.4	NP_036214.2:p.(Tyr992=)	NC_000008.10:g.106815286T>C	(Likely) benign	2 labs	637e5cc9e7
16:2133701 TSC2 G>A	16	2133701	2133701	G	A	TSC2	c.3889G>A	NM_000548.5	NP_000539.2:p.(Ala1297Thr)	NC_000016.9:g.2133701G>A	(Likely) benign	2 labs	6384c194ba
3:81691938 GBE1 T>G	3	81691938	81691938	T	G	GBE1	c.986A>C	NM_000158.4	NP_000149.4:p.(Tyr329Ser)	NC_000003.11:g.81691938T>G	(Likely) pathogenic	2 labs	639a3401e1
3:37053590 MLH1 G>A	3	37053590	37053590	G	A	MLH1	c.677G>A	NM_000249.4	NP_000240.1:p.(Arg226Gln)	NC_000003.11:g.37053590G>A	(Likely) pathogenic	2 labs	63a56fa3fb
2:179396568 TTN T>G	2	179396568	179396568	T	G	TTN	c.104774A>C	NM_001267550.2	NP_001254479.2:p.(Glu34925Ala)	NC_000002.11:g.179396568T>G	(Likely) benign	6 labs	21a5e8101a
17:68171656 KCNJ2 T>C	17	68171656	68171656	T	C	KCNJ2	c.476T>C	NM_000891.3	NP_000882.1:p.(Phe159Ser)	NC_000017.10:g.68171656T>C	VUS	2 labs	63e70e9d6d
8:38275788 FGFR1 T>C	8	38275788	38275788	T	C	FGFR1	c.1358A>G	NM_001174064.2	NP_001167535.1:p.(Tyr453Cys)	NC_000008.10:g.38275788T>C	VUS	2 labs	641943af57
7:128492690 FLNC C>T	7	128492690	128492690	C	T	FLNC	c.5888C>T	NM_001458.5	NP_001449.3:p.(Thr1963Met)	NC_000007.13:g.128492690C>T	VUS	2 labs	21acde8561
13:110838828 COL4A1 C>T	13	110838828	110838828	C	T	COL4A1	c.1801G>A	NM_001845.6	NP_001836.3:p.(Gly601Ser)	NC_000013.10:g.110838828C>T	(Likely) pathogenic	2 labs	65108bedf8
14:23883247 MYH7 A>G	14	23883247	23883247	A	G	MYH7	c.5624T>C	NM_000257.4	NP_000248.2:p.(Val1875Ala)	NC_000014.8:g.23883247A>G	VUS	2 labs	655c4d7662
2:21234902 APOB C>G	2	21234902	21234902	C	G	APOB	c.4838G>C	NM_000384.3	NP_000375.3:p.(Ser1613Thr)	NC_000002.11:g.21234902C>G	(Likely) benign	4 labs	21be30d37f
17:62045467 SCN4A A>G	17	62045467	62045467	A	G	SCN4A	c.952T>C	NM_000334.4	NP_000325.4:p.(Trp318Arg)	NC_000017.10:g.62045467A>G	(Likely) benign	2 labs	22e67e5e96
1:156106132 LMNA A>G	1	156106132	156106132	A	G	LMNA	c.1285A>G	NM_170707.4	NP_733821.1:p.(Ser429Gly)	NC_000001.10:g.156106132A>G	VUS	2 labs	65830373a1
18:19378177 MIB1 A>G	18	19378177	19378177	A	G	MIB1	c.1225A>G	NM_020774.4	NP_065825.1:p.(Asn409Asp)	NC_000018.9:g.19378177A>G	VUS	3 labs	3637ab16c0
13:110813709 COL4A1 G>A	13	110813709	110813709	G	A	COL4A1	c.4470C>T	NM_001845.6	NP_001836.3:p.(Ala1490=)	NC_000013.10:g.110813709G>A	(Likely) benign	4 labs	21cb68798a
X:32563263 DMD A>G	X	32563263	32563263	A	G	DMD	c.2168+13T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32563263A>G	(Likely) benign	2 labs	21ce5754a1
2:105977761 FHL2 G>A	2	105977761	105977761	G	A	FHL2	c.819C>T	NM_201555.2	NP_963849.1:p.(Pro273=)	NC_000002.11:g.105977761G>A	(Likely) benign	2 labs	21d1b0fb49
10:79782048 POLR3A G>A	10	79782048	79782048	G	A	POLR3A	c.740C>T	NM_007055.4	NP_008986.2:p.(Pro247Leu)	NC_000010.10:g.79782048G>A	VUS	2 labs	6632cac88d
12:32777362 FGD4 G>A	12	32777362	32777362	G	A	FGD4	c.1518G>A	NM_139241.3	NP_640334.2:p.(Ala506=)	NC_000012.11:g.32777362G>A	(Likely) benign	2 labs	21d86a6199
6:129637234 LAMA2 C>T	6	129637234	129637234	C	T	LAMA2	c.3976C>T	NM_000426.4	NP_000417.3:p.(Arg1326Ter)	NC_000006.11:g.129637234C>T	(Likely) pathogenic	2 labs	664a939f4e
16:8900241 PMM2 G>A	16	8900241	8900241	G	A	PMM2	c.324G>A	NM_000303.3	NP_000294.1:p.(Ala108=)	NC_000016.9:g.8900241G>A	(Likely) benign	3 labs	21dba23163
9:377043 DOCK8 C>T	9	377043	377043	C	T	DOCK8	c.2272C>T	NM_203447.4	NP_982272.2:p.(Arg758Cys)	NC_000009.11:g.377043C>T	VUS	2 labs	6655c79e0b
12:112926887 PTPN11 G>A	12	112926887	112926887	G	A	PTPN11	c.1507G>A	NM_002834.5	NP_002825.3:p.(Gly503Arg)	NC_000012.11:g.112926887G>A	(Likely) pathogenic	2 labs	6670570cf8
17:42427661 GRN T>C	17	42427661	42427661	T	C	GRN	c.415T>C	NM_002087.4	NP_002078.1:p.(Cys139Arg)	NC_000017.10:g.42427661T>C	VUS	3 labs	21e614571c
11:534286 HRAS C>A	11	534286	534286	C	A	HRAS	c.37G>T	NM_005343.4	NP_005334.1:p.(Gly13Cys)	NC_000011.9:g.534286C>A	(Likely) pathogenic	2 labs	66e07cf22c
17:41215292 BRCA1 T>C	17	41215292	41215292	T	C	BRCA1	c.5256+58A>G	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41215292T>C	(Likely) benign	2 labs	23325fc940
4:1801072 FGFR3 T>C	4	1801072	1801072	T	C	FGFR3	c.201T>C	NM_000142.5	NP_000133.1:p.(Gly67=)	NC_000004.11:g.1801072T>C	(Likely) benign	2 labs	6766c20744
17:4806052 CHRNE C>A	17	4806052	4806052	C	A	CHRNE	c.53G>T	NM_000080.4	NP_000071.1:p.(Gly18Val)	NC_000017.10:g.4806052C>A	(Likely) benign	2 labs	67dd84241c
1:226127528 LEFTY2 T>C	1	226127528	226127528	T	C	LEFTY2	c.425A>G	NM_003240.5	NP_003231.2:p.(Gln142Arg)	NC_000001.10:g.226127528T>C	(Likely) benign	3 labs	23451a355d
5:112178802 APC G>A	5	112178802	112178802	G	A	APC	c.7511G>A	NM_000038.6	NP_000029.2:p.(Trp2504Ter)	NC_000005.9:g.112178802G>A	(Likely) pathogenic	2 labs	67ea3dc348
19:39009931 RYR1 C>T	19	39009931	39009931	C	T	RYR1	c.10096C>T	NM_000540.3	NP_000531.2:p.(Arg3366Cys)	NC_000019.9:g.39009931C>T	VUS	2 labs	67fb1c4a70
10:88466383 LDB3 C>T	10	88466383	88466383	C	T	LDB3	c.992C>T	NM_007078.3	NP_009009.1:p.(Ala331Val)	NC_000010.10:g.88466383C>T	(Likely) benign	6 labs	21fbcdb7ea
16:16248791 ABCC6 C>T	16	16248791	16248791	C	T	ABCC6	c.3980G>A	NM_001171.6	NP_001162.5:p.(Gly1327Glu)	NC_000016.9:g.16248791C>T	(Likely) benign	2 labs	6823d779ec
1:93301840 RPL5 G>A	1	93301840	93301840	G	A	RPL5	c.418G>A	NM_000969.5	NP_000960.2:p.(Gly140Ser)	NC_000001.10:g.93301840G>A	VUS	2 labs	68309183c8
17:56774077 RAD51C A>G	17	56774077	56774077	A	G	RAD51C	c.428A>G	NM_058216.3	NP_478123.1:p.(Gln143Arg)	NC_000017.10:g.56774077A>G	VUS	4 labs	2202636f0f
5:14291244 TRIO G>A	5	14291244	14291244	G	A	TRIO	c.960G>A	NM_007118.4	NP_009049.2:p.(Ser320=)	NC_000005.9:g.14291244G>A	(Likely) benign	2 labs	23527468d2
12:56101421 ITGA7 A>C	12	56101421	56101421	A	C	ITGA7	c.46T>G	NM_002206.3	NP_002197.2:p.(Cys16Gly)	NC_000012.11:g.56101421A>C	(Likely) benign	2 labs	2353503891
9:13119644 MPDZ C>T	9	13119644	13119644	C	T	MPDZ	c.5236G>A	NM_001378778.1	NP_001365707.1:p.(Asp1746Asn)	NC_000009.11:g.13119644C>T	VUS	2 labs	68634e1544
6:44272249 AARS2 G>A	6	44272249	44272249	G	A	AARS2	c.1774C>T	NM_020745.4	NP_065796.2:p.(Arg592Trp)	NC_000006.11:g.44272249G>A	(Likely) pathogenic	2 labs	68a1c87908
20:62325788 RTEL1 A>G	20	62325788	62325788	A	G	RTEL1	c.3056A>G	NM_001283009.2	NP_001269938.1:p.(Gln1019Arg)	NC_000020.10:g.62325788A>G	(Likely) benign	2 labs	68bebb8c5b
18:19379871 MIB1 T>G	18	19379871	19379871	T	G	MIB1	c.1307T>G	NM_020774.4	NP_065825.1:p.(Val436Gly)	NC_000018.9:g.19379871T>G	VUS	2 labs	68edbb7304
3:38645189 SCN5A C>T	3	38645189	38645189	C	T	SCN5A	c.1890+14G>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38645189C>T	(Likely) benign	3 labs	220ea0379d
1:247587408 NLRP3 C>T	1	247587408	247587408	C	T	NLRP3	c.657C>T	NM_001243133.2	NP_001230062.1:p.(Thr219=)	NC_000001.10:g.247587408C>T	(Likely) benign	2 labs	236b8b3c30
17:36099481 HNF1B C>T	17	36099481	36099481	C	T	HNF1B	c.494G>A	NM_000458.4	NP_000449.1:p.(Arg165His)	NC_000017.10:g.36099481C>T	(Likely) pathogenic	2 labs	6932deafe8
2:179411178 TTN A>G	2	179411178	179411178	A	G	TTN	c.94880T>C	NM_001267550.2	NP_001254479.2:p.(Ile31627Thr)	NC_000002.11:g.179411178A>G	VUS	3 labs	221b571e91
2:48023016 MSH6 A>G	2	48023016	48023016	A	G	MSH6	c.458-17A>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48023016A>G	(Likely) benign	2 labs	6955199a5d
2:179421844 TTN T>A	2	179421844	179421844	T	A	TTN	c.88037A>T	NM_001267550.2	NP_001254479.2:p.(Asp29346Val)	NC_000002.11:g.179421844T>A	VUS	3 labs	2222c09215
6:33146502 COL11A2 C>T	6	33146502	33146502	C	T	COL11A2	c.1673G>A	NM_080680.3	NP_542411.2:p.(Arg558Gln)	NC_000006.11:g.33146502C>T	VUS	2 labs	69c6f6cea9
5:112175548 APC C>G	5	112175548	112175548	C	G	APC	c.4257C>G	NM_000038.6	NP_000029.2:p.(Ser1419Arg)	NC_000005.9:g.112175548C>G	VUS	2 labs	6a345c7884
17:15134175 PMP22 T>G	17	15134175	15134175	T	G	PMP22	c.*59A>C	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15134175T>G	(Likely) benign	3 labs	222aa3b4b2
11:47364612 MYBPC3 C>G	11	47364612	47364612	C	G	MYBPC3	c.1311G>C	NM_000256.3	NP_000247.2:p.(Val437=)	NC_000011.9:g.47364612C>G	(Likely) benign	2 labs	2234642c8a
X:99662577 PCDH19 T>C	X	99662577	99662577	T	C	PCDH19	c.1019A>G	NM_001184880.2	NP_001171809.1:p.(Asn340Ser)	NC_000023.10:g.99662577T>C	(Likely) pathogenic	2 labs	23983a9731
16:2129045 TSC2 G>A	16	2129045	2129045	G	A	TSC2	c.2979G>A	NM_000548.5	NP_000539.2:p.(Thr993=)	NC_000016.9:g.2129045G>A	(Likely) benign	4 labs	223d47faad
4:13545849 NKX3-2 C>G	4	13545849	13545849	C	G	NKX3-2	c.190G>C	NM_001189.4	NP_001180.1:p.(Gly64Arg)	NC_000004.11:g.13545849C>G	(Likely) benign	2 labs	6b041bacfe
7:94039032 COL1A2 C>T	7	94039032	94039032	C	T	COL1A2	c.937-3C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94039032C>T	(Likely) benign	3 labs	223d9fcc1a
22:18905964 PRODH C>T	22	18905964	18905964	C	T	PRODH				NC_000022.10:g.18905964C>T	(Likely) benign	2 labs	239d90d8d4
5:55253094 IL6ST C>T	5	55253094	55253094	C	T	IL6ST	c.999G>A	NM_002184.4	NP_002175.2:p.(Trp333Ter)	NC_000005.9:g.55253094C>T	(Likely) pathogenic	2 labs	6b5e4822fb
1:197446951 CRB1 G>A	1	197446951	197446951	G	A	CRB1	c.4163G>A	NM_201253.3	NP_957705.1:p.(Gly1388Asp)	NC_000001.10:g.197446951G>A	VUS	2 labs	6b6d32c2bb
X:153172010 AVPR2 G>T	X	153172010	153172010	G	T	AVPR2	c.944G>T	NM_000054.6	NP_000045.1:p.(Ser315Ile)	NC_000023.10:g.153172010G>T	(Likely) pathogenic	2 labs	6b8a53324c
4:114278835 ANK2 G>A	4	114278835	114278835	G	A	ANK2	c.9061G>A	NM_001148.6	NP_001139.3:p.(Ala3021Thr)	NC_000004.11:g.114278835G>A	(Likely) benign	2 labs	6b8e8d9ec1
8:144903784 PUF60 G>A	8	144903784	144903784	G	A	PUF60	c.280C>T	NM_078480.3	NP_510965.1:p.(Gln94Ter)	NC_000008.10:g.144903784G>A	(Likely) pathogenic	2 labs	6bdeada2d4
17:42230014 HROB A>G	17	42230014	42230014	A	G	HROB	c.1318A>G	NM_001171251.3	NP_001164722.1:p.(Ser440Gly)	NC_000017.10:g.42230014A>G	VUS	2 labs	6c1bf398a0
13:111154061 COL4A2 T>C	13	111154061	111154061	T	C	COL4A2	c.3807T>C	NM_001846.4	NP_001837.2:p.(Gly1269=)	NC_000013.10:g.111154061T>C	(Likely) benign	3 labs	2256677e14
11:108216597 ATM G>A	11	108216597	108216597	G	A	ATM	c.8546G>A	NM_000051.4	NP_000042.3:p.(Arg2849Gln)	NC_000011.9:g.108216597G>A	VUS	2 labs	6c72410a47
15:89401235 ACAN G>A	15	89401235	89401235	G	A	ACAN	c.5419G>A	NM_001369268.1	NP_001356197.1:p.(Gly1807Arg)	NC_000015.9:g.89401235G>A	VUS	2 labs	6caf73e11a
11:119149251 CBL G>A	11	119149251	119149251	G	A	CBL	c.1259G>A	NM_005188.4	NP_005179.2:p.(Arg420Gln)	NC_000011.9:g.119149251G>A	(Likely) pathogenic	2 labs	6cd1705f97
11:117864063 IL10RA A>G	11	117864063	117864063	A	G	IL10RA	c.475A>G	NM_001558.4	NP_001549.2:p.(Ser159Gly)	NC_000011.9:g.117864063A>G	(Likely) benign	2 labs	22720ad932
2:228168748 COL4A3 C>A	2	228168748	228168748	C	A	COL4A3	c.4041C>A	NM_000091.5	NP_000082.2:p.(Asp1347Glu)	NC_000002.11:g.228168748C>A	(Likely) benign	2 labs	6d1af8f1bd
20:3063425 AVP A>C	20	3063425	3063425	A	C	AVP	c.346T>G	NM_000490.4	NP_000481.2:p.(Cys116Gly)	NC_000020.10:g.3063425A>C	(Likely) pathogenic	2 labs	23ceea8f53
15:65369936 KBTBD13 C>A	15	65369936	65369936	C	A	KBTBD13	c.783C>A	NM_001101362.3	NP_001094832.1:p.(Tyr261Ter)	NC_000015.9:g.65369936C>A	VUS	2 labs	6d39e4a5cc
20:30412101 MYLK2 C>T	20	30412101	30412101	C	T	MYLK2	c.918C>T	NM_033118.3	NP_149109.1:p.(Ala306=)	NC_000020.10:g.30412101C>T	(Likely) benign	2 labs	23d6ec77ce
1:110128852 GNAI3 G>C	1	110128852	110128852	G	C	GNAI3	c.605G>C	NM_006496.4	NP_006487.1:p.(Gly202Ala)	NC_000001.10:g.110128852G>C	VUS	2 labs	6d689cd3f7
3:183962445 ALG3 TGAG>T	3	183962445	183962451	TGAG	T	ALG3	c.667_669del	NM_005787.6	NP_005778.1:p.(Leu223del)	NC_000003.11:g.183962449_183962451del	VUS	2 labs	6d760ff94d
1:45795043 MUTYH G>T	1	45795043	45795043	G	T	MUTYH	c.1501C>A	NM_001048174.2	NP_001041639.1:p.(Leu501Met)	NC_000001.10:g.45795043G>T	(Likely) benign	2 labs	6e2b6d939c
6:152485429 SYNE1 C>T	6	152485429	152485429	C	T	SYNE1	c.23659G>A	NM_182961.4	NP_892006.3:p.(Val7887Met)	NC_000006.11:g.152485429C>T	VUS	2 labs	6e34b5a6cb
22:19750773 TBX1 T>C	22	19750773	19750773	T	C	TBX1	c.420T>C	NM_080647.1	NP_542378.1:p.(Phe140=)	NC_000022.10:g.19750773T>C	(Likely) benign	4 labs	227f79dae8
1:237947171 RYR2 G>A	1	237947171	237947171	G	A	RYR2	c.12159G>A	NM_001035.3	NP_001026.2:p.(Glu4053=)	NC_000001.10:g.237947171G>A	(Likely) benign	5 labs	22918f3520
11:108129749 ATM C>T	11	108129749	108129749	C	T	ATM	c.2413C>T	NM_000051.4	NP_000042.3:p.(Arg805Ter)	NC_000011.9:g.108129749C>T	(Likely) pathogenic	2 labs	6eed30ba50
9:4118111 GLIS3 G>T	9	4118111	4118111	G	T	GLIS3	c.1367C>A	NM_001042413.2	NP_001035878.1:p.(Pro456Gln)	NC_000009.11:g.4118111G>T	(Likely) benign	2 labs	229d758d5b
14:74976538 LTBP2 G>A	14	74976538	74976538	G	A	LTBP2	c.3176C>T	NM_000428.3	NP_000419.1:p.(Ala1059Val)	NC_000014.8:g.74976538G>A	VUS	2 labs	6f1b5adccc
11:117869670 IL10RA A>G	11	117869670	117869670	A	G	IL10RA	c.1051A>G	NM_001558.4	NP_001549.2:p.(Arg351Gly)	NC_000011.9:g.117869670A>G	(Likely) benign	2 labs	22a7e20bc8
6:43578327 POLH C>T	6	43578327	43578327	C	T	POLH	c.1111C>T	NM_006502.3	NP_006493.1:p.(Arg371Cys)	NC_000006.11:g.43578327C>T	VUS	2 labs	22ac0c2838
15:42680006 CAPN3 A>T	15	42680006	42680006	A	T	CAPN3	c.554A>T	NM_000070.3	NP_000061.1:p.(Tyr185Phe)	NC_000015.9:g.42680006A>T	VUS	2 labs	6f5e5c4c61
3:37090030 MLH1 C>T	3	37090030	37090030	C	T	MLH1	c.1919C>T	NM_000249.4	NP_000240.1:p.(Pro640Leu)	NC_000003.11:g.37090030C>T	(Likely) pathogenic	3 labs	6f7fea0a5e
6:36652151 CDKN1A A>T	6	36652151	36652151	A	T	CDKN1A	c.375A>T	NM_001291549.3	NP_001278478.1:p.(Gly125=)	NC_000006.11:g.36652151A>T	(Likely) benign	2 labs	6fa1e4927e
2:179497489 TTN C>T	2	179497489	179497489	C	T	TTN	c.43244G>A	NM_001267550.2	NP_001254479.2:p.(Ser14415Asn)	NC_000002.11:g.179497489C>T	VUS	3 labs	22b2755eb3
10:26446312 MYO3A G>A	10	26446312	26446312	G	A	MYO3A	c.2867G>A	NM_017433.5	NP_059129.3:p.(Ser956Asn)	NC_000010.10:g.26446312G>A	(Likely) benign	2 labs	22b3c08590
2:234669558 UGT1A1 C>T	2	234669558	234669558	C	T	UGT1A1	c.625C>T	NM_000463.3	NP_000454.1:p.(Arg209Trp)	NC_000002.11:g.234669558C>T	(Likely) pathogenic	2 labs	22b4132125
15:89382053 ACAN G>A	15	89382053	89382053	G	A	ACAN	c.230G>A	NM_001369268.1	NP_001356197.1:p.(Arg77His)	NC_000015.9:g.89382053G>A	(Likely) benign	2 labs	6fdefb0977
2:207003230 NDUFS1 C>T	2	207003230	207003230	C	T	NDUFS1	c.1371G>A	NM_005006.7	NP_004997.4:p.(Ser457=)	NC_000002.11:g.207003230C>T	(Likely) benign	2 labs	2408f18f55
7:128494147 FLNC A>C	7	128494147	128494147	A	C	FLNC	c.6604A>C	NM_001458.5	NP_001449.3:p.(Lys2202Gln)	NC_000007.13:g.128494147A>C	VUS	2 labs	700150fd9a
4:174448488 HAND2 C>G	4	174448488	174448488	C	G	HAND2	c.594G>C	NM_021973.3	NP_068808.1:p.(Lys198Asn)	NC_000004.11:g.174448488C>G	VUS	2 labs	70089126b9
6:129722389 LAMA2 A>G	6	129722389	129722389	A	G	LAMA2	c.5466A>G	NM_000426.4	NP_000417.3:p.(Glu1822=)	NC_000006.11:g.129722389A>G	(Likely) benign	3 labs	22b895fed9
11:46761055 F2 G>A	11	46761055	46761055	G	A	F2	c.*97G>A	NM_000506.5	NP_000497.1:p.?	NC_000011.9:g.46761055G>A	(Likely) pathogenic	2 labs	7019c4aebb
5:127614472 FBN2 A>G	5	127614472	127614472	A	G	FBN2	c.7200T>C	NM_001999.4	NP_001990.2:p.(Ser2400=)	NC_000005.9:g.127614472A>G	(Likely) benign	3 labs	22bbdb2927
14:105239287 AKT1 C>T	14	105239287	105239287	C	T	AKT1	c.1100G>A	NM_005163.2	NP_005154.2:p.(Arg367His)	NC_000014.8:g.105239287C>T	VUS	2 labs	706fe5818f
5:89938587 ADGRV1 C>T	5	89938587	89938587	C	T	ADGRV1	c.2367+8C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938587C>T	(Likely) benign	2 labs	22ca50d816
17:66526546 PRKAR1A C>T	17	66526546	66526546	C	T	PRKAR1A	c.1102C>T	NM_002734.5	NP_002725.1:p.(Arg368Ter)	NC_000017.10:g.66526546C>T	(Likely) pathogenic	2 labs	70d9df7f0a
5:90086955 ADGRV1 G>A	5	90086955	90086955	G	A	ADGRV1	c.14309G>A	NM_032119.4	NP_115495.3:p.(Arg4770His)	NC_000005.9:g.90086955G>A	(Likely) benign	2 labs	22d2f830d4
5:37059177 NIPBL C>T	5	37059177	37059177	C	T	NIPBL	c.7595C>T	NM_133433.4	NP_597677.2:p.(Pro2532Leu)	NC_000005.9:g.37059177C>T	(Likely) benign	2 labs	7120ee340b
12:6085370 VWF G>A	12	6085370	6085370	G	A	VWF	c.7344C>T	NM_000552.4	NP_000543.2:p.(Cys2448=)	NC_000012.11:g.6085370G>A	(Likely) benign	2 labs	2423944e5a
19:13318672 CACNA1A CCTGCTGCTG>C	19	13318672	13318712	CCTGCTGCTG	C	CACNA1A	c.6985_6993del	NM_023035.3	NP_075461.2:p.(Gln2329_Gln2331del)	NC_000019.9:g.13318704_13318712del	(Likely) benign	2 labs	714fd684fc
19:50906446 POLD1 G>C	19	50906446	50906446	G	C	POLD1	c.1107G>C	NM_002691.4	NP_002682.2:p.(Gln369His)	NC_000019.9:g.50906446G>C	VUS	2 labs	715b9ff3d3
8:23560084 NKX2-6 G>C	8	23560084	23560084	G	C	NKX2-6	c.786C>G	NM_001136271.3	NP_001129743.2:p.(Gly262=)	NC_000008.10:g.23560084G>C	(Likely) benign	2 labs	7194e4e121
8:100871713 VPS13B C>T	8	100871713	100871713	C	T	VPS13B	c.11119+5C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100871713C>T	(Likely) benign	2 labs	71aef76cb6
17:56774131 RAD51C A>T	17	56774131	56774131	A	T	RAD51C	c.482A>T	NM_058216.3	NP_478123.1:p.(Glu161Val)	NC_000017.10:g.56774131A>T	VUS	2 labs	71e372780f
1:196884258 CFHR4 A>T	1	196884258	196884258	A	T	CFHR4	c.1530A>T	NM_001201550.3	NP_001188479.1:p.(Pro510=)	NC_000001.10:g.196884258A>T	(Likely) benign	2 labs	243cf5cf3c
X:152031237 NSDHL A>G	X	152031237	152031237	A	G	NSDHL	c.512A>G	NM_015922.3	NP_057006.1:p.(Tyr171Cys)	NC_000023.10:g.152031237A>G	VUS	2 labs	22f0a7a88f
12:109998873 MMAB G>A	12	109998873	109998873	G	A	MMAB	c.556C>T	NM_052845.4	NP_443077.1:p.(Arg186Trp)	NC_000012.11:g.109998873G>A	(Likely) pathogenic	3 labs	7223228223
2:220283749 DES C>T	2	220283749	220283749	C	T	DES	c.565C>T	NM_001927.4	NP_001918.3:p.(Arg189Trp)	NC_000002.11:g.220283749C>T	VUS	3 labs	22f9a3934c
X:601623 SHOX G>A	X	601623	601623	G	A	SHOX	c.544+10G>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.601623G>A	(Likely) benign	2 labs	7248ebfd8b
17:17122382 FLCN C>T	17	17122382	17122382	C	T	FLCN	c.1013G>A	NM_144997.7	NP_659434.2:p.(Trp338Ter)	NC_000017.10:g.17122382C>T	(Likely) pathogenic	2 labs	724fa1b61c
2:179595706 TTN C>T	2	179595706	179595706	C	T	TTN	c.17686G>A	NM_001267550.2	NP_001254479.2:p.(Glu5896Lys)	NC_000002.11:g.179595706C>T	(Likely) benign	2 labs	22faeaa497
19:15302906 NOTCH3 G>A	19	15302906	15302906	G	A	NOTCH3	c.544C>T	NM_000435.3	NP_000426.2:p.(Arg182Cys)	NC_000019.9:g.15302906G>A	(Likely) pathogenic	2 labs	72808ed5d4
9:35808594 NPR2 C>T	9	35808594	35808594	C	T	NPR2	c.2801C>T	NM_003995.4	NP_003986.2:p.(Ala934Val)	NC_000009.11:g.35808594C>T	VUS	2 labs	7285f87f1a
2:179448493 TTN G>A	2	179448493	179448493	G	A	TTN	c.65416C>T	NM_001267550.2	NP_001254479.2:p.(Arg21806Trp)	NC_000002.11:g.179448493G>A	VUS	3 labs	22ff0983f0
2:179588868 TTN G>A	2	179588868	179588868	G	A	TTN	c.21118C>T	NM_001267550.2	NP_001254479.2:p.(Arg7040Ter)	NC_000002.11:g.179588868G>A	VUS	2 labs	729976fc06
14:23894084 MYH7 C>A	14	23894084	23894084	C	A	MYH7	c.2573G>T	NM_000257.4	NP_000248.2:p.(Arg858Leu)	NC_000014.8:g.23894084C>A	(Likely) pathogenic	2 labs	22ff1099d7
10:90695045 ACTA2 T>C	10	90695045	90695045	T	C	ACTA2	c.1069A>G	NM_001141945.2	NP_001135417.1:p.(Met357Val)	NC_000010.10:g.90695045T>C	VUS	2 labs	72cad41cd7
4:96046145 BMPR1B A>G	4	96046145	96046145	A	G	BMPR1B	c.458A>G	NM_001203.3	NP_001194.1:p.(Gln153Arg)	NC_000004.11:g.96046145A>G	VUS	2 labs	72e2c0d7a0
21:34923201 SON C>T	21	34923201	34923201	C	T	SON	c.1664C>T	NM_032195.3	NP_115571.3:p.(Thr555Met)	NC_000021.8:g.34923201C>T	(Likely) benign	3 labs	2300ea69d0
7:100225193 TFR2 G>A	7	100225193	100225193	G	A	TFR2	c.1767+7C>T	NM_003227.4	NP_003218.2:p.?	NC_000007.13:g.100225193G>A	(Likely) benign	2 labs	736e025d01
12:110784210 ATP2A2 A>G	12	110784210	110784210	A	G	ATP2A2	c.2980+84A>G	NM_001681.4	NP_001672.1:p.?	NC_000012.11:g.110784210A>G	VUS	3 labs	245610560f
13:111141856 COL4A2 G>A	13	111141856	111141856	G	A	COL4A2	c.3271+1G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111141856G>A	VUS	2 labs	73990c80c4
2:128185950 PROC C>T	2	128185950	128185950	C	T	PROC	c.814C>T	NM_000312.4	NP_000303.1:p.(Arg272Cys)	NC_000002.11:g.128185950C>T	(Likely) pathogenic	2 labs	743d3a810c
1:237778047 RYR2 A>G	1	237778047	237778047	A	G	RYR2	c.5619A>G	NM_001035.3	NP_001026.2:p.(Ala1873=)	NC_000001.10:g.237778047A>G	(Likely) benign	5 labs	230e67eca0
11:2185574 TH C>T	11	2185574	2185574	C	T	TH	c.1383G>A	NM_000360.4	NP_000351.2:p.(Pro461=)	NC_000011.9:g.2185574C>T	(Likely) benign	2 labs	745f17cb1b
4:85731296 WDFY3 G>A	4	85731296	85731296	G	A	WDFY3	c.2089C>T	NM_014991.6	NP_055806.2:p.(Arg697Cys)	NC_000004.11:g.85731296G>A	VUS	2 labs	749bcf9e30
12:50500071 GPD1 G>A	12	50500071	50500071	G	A	GPD1	c.361G>A	NM_005276.4	NP_005267.2:p.(Gly121Arg)	NC_000012.11:g.50500071G>A	VUS	4 labs	231ddefadc
16:2143641 PKD1 G>A	16	2143641	2143641	G	A	PKD1	c.10920C>T	NM_001009944.3	NP_001009944.3:p.(Ser3640=)	NC_000016.9:g.2143641G>A	VUS	2 labs	754cdc067e
20:44520359 CTSA C>A	20	44520359	44520359	C	A	CTSA	c.152C>A	NM_000308.4	NP_000299.3:p.(Ser51Tyr)	NC_000020.10:g.44520359C>A	(Likely) pathogenic	2 labs	75863cfde7
1:160109668 ATP1A2 C>T	1	160109668	160109668	C	T	ATP1A2				NC_000001.10:g.160109668C>T	(Likely) benign	3 labs	24841b326c
18:29101120 DSG2 G>T	18	29101120	29101120	G	T	DSG2	c.437G>T	NM_001943.5	NP_001934.2:p.(Arg146Leu)	NC_000018.9:g.29101120G>T	(Likely) benign	5 labs	2335a65f5b
14:88452945 GALC G>A	14	88452945	88452945	G	A	GALC	c.330C>T	NM_000153.4	NP_000144.2:p.(Asp110=)	NC_000014.8:g.88452945G>A	(Likely) benign	4 labs	233bae2f9c
11:836758 CD151 G>GC	11	836758	836766	G	GC	CD151	c.277-3dup	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.836766dup	(Likely) benign	2 labs	233bf33257
4:1806089 FGFR3 G>T	4	1806089	1806089	G	T	FGFR3	c.1108G>T	NM_000142.5	NP_000133.1:p.(Gly370Cys)	NC_000004.11:g.1806089G>T	(Likely) pathogenic	2 labs	762b76fd51
2:166179650 SCN2A C>T	2	166179650	166179650	C	T	SCN2A	c.1672-16C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166179650C>T	(Likely) benign	2 labs	2345b6556b
17:63531775 AXIN2 G>T	17	63531775	63531775	G	T	AXIN2	c.2206C>A	NM_004655.4	NP_004646.3:p.(Pro736Thr)	NC_000017.10:g.63531775G>T	VUS	3 labs	2345ffa54d
17:7579907 TP53 C>T	17	7579907	7579907	C	T	TP53	c.6G>A	NM_000546.6	NP_000537.3:p.(Glu2=)	NC_000017.10:g.7579907C>T	(Likely) benign	2 labs	76575b568f
17:41243830 BRCA1 G>A	17	41243830	41243830	G	A	BRCA1	c.3718C>T	NM_007294.4	NP_009225.1:p.(Gln1240Ter)	NC_000017.10:g.41243830G>A	(Likely) pathogenic	2 labs	234951bb0a
4:108931039 HADH T>C	4	108931039	108931039	T	C	HADH	c.257T>C	NM_001184705.4	NP_001171634.3:p.(Leu86Pro)	NC_000004.11:g.108931039T>C	(Likely) benign	2 labs	234a5b5541
11:66297397 BBS1 C>T	11	66297397	66297397	C	T	BBS1	c.1447C>T	NM_024649.5	NP_078925.3:p.(Arg483Ter)	NC_000011.9:g.66297397C>T	(Likely) pathogenic	3 labs	769d31ab54
10:16919081 CUBN G>A	10	16919081	16919081	G	A	CUBN	c.8921C>T	NM_001081.3	NP_001072.2:p.(Thr2974Met)	NC_000010.10:g.16919081G>A	(Likely) benign	2 labs	249dfebe9f
19:38942482 RYR1 C>T	19	38942482	38942482	C	T	RYR1	c.1201C>T	NM_000540.2	NP_000531.2:p.(Arg401Cys)	NC_000019.9:g.38942482C>T	(Likely) pathogenic	2 labs	249f44c5c5
1:228469825 OBSCN C>T	1	228469825	228469825	C	T	OBSCN	c.9676C>T	NM_001271223.2	NP_001258152.2:p.(Arg3226Trp)	NC_000001.10:g.228469825C>T	(Likely) benign	2 labs	32e64d2097
16:1967982 HS3ST6 C>CG	16	1967982	1967986	C	CG	HS3ST6	c.342dup	NM_001009606.4	NP_001009606.3:p.(Asp115ArgfsTer8)	NC_000016.9:g.1967986dup	(Likely) benign	2 labs	771b6b450d
5:134364974 PITX1 C>G	5	134364974	134364974	C	G	PITX1	c.440G>C	NM_002653.5	NP_002644.4:p.(Arg147Pro)	NC_000005.9:g.134364974C>G	VUS	2 labs	77340241c3
7:92130876 PEX1 C>T	7	92130876	92130876	C	T	PEX1	c.2528G>A	NM_000466.3	NP_000457.1:p.(Gly843Asp)	NC_000007.13:g.92130876C>T	(Likely) pathogenic	6 labs	234c740189
2:220284779 DES C>T	2	220284779	220284779	C	T	DES	c.579-38C>T	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220284779C>T	(Likely) benign	2 labs	24ab253d54
2:48032740 MSH6 A>AT	2	48032740	48032753	A	AT	MSH6	c.3557-4dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032753dup	(Likely) benign	4 labs	2357324f48
X:106144073 RIPPLY1 T>C	X	106144073	106144073	T	C	RIPPLY1	c.362A>G	NM_138382.3	NP_612391.1:p.(Asn121Ser)	NC_000023.10:g.106144073T>C	(Likely) benign	2 labs	24b4267ed0
19:38990283 RYR1 G>A	19	38990283	38990283	G	A	RYR1	c.7036G>A	NM_000540.3	NP_000531.2:p.(Val2346Met)	NC_000019.9:g.38990283G>A	VUS	2 labs	77d97406ca
12:66232324 HMGA2 G>A	12	66232324	66232324	G	A	HMGA2	c.224G>A	NM_003483.6	NP_003474.1:p.(Arg75Gln)	NC_000012.11:g.66232324G>A	VUS	2 labs	780a9ae838
6:6167822 F13A1 C>T	6	6167822	6167822	C	T	F13A1	c.1777G>A	NM_000129.4	NP_000120.2:p.(Gly593Ser)	NC_000006.11:g.6167822C>T	(Likely) benign	3 labs	235b2428d2
X:37663322 CYBB G>C	X	37663322	37663322	G	C	CYBB	c.1090G>C	NM_000397.3	NP_000388.2:p.(Gly364Arg)	NC_000023.10:g.37663322G>C	(Likely) benign	2 labs	24b624efc3
20:31017139 ASXL1 A>G	20	31017139	31017139	A	G	ASXL1	c.472-2A>G	NM_015338.6	NP_056153.2:p.?	NC_000020.10:g.31017139A>G	VUS	2 labs	78446bcd5c
10:76602990 KAT6B C>T	10	76602990	76602990	C	T	KAT6B	c.375C>T	NM_012330.4	NP_036462.2:p.(Ser125=)	NC_000010.10:g.76602990C>T	(Likely) benign	2 labs	78873f55d5
6:51656162 PKHD1 A>G	6	51656162	51656162	A	G	PKHD1	c.8312T>C	NM_138694.4	NP_619639.3:p.(Val2771Ala)	NC_000006.11:g.51656162A>G	(Likely) pathogenic	2 labs	788e2239b6
17:62045555 SCN4A G>A	17	62045555	62045555	G	A	SCN4A	c.864C>T	NM_000334.4	NP_000325.4:p.(Asn288=)	NC_000017.10:g.62045555G>A	(Likely) benign	2 labs	78d76a6b5b
2:179659805 TTN C>T	2	179659805	179659805	C	T	TTN	c.1089G>A	NM_001267550.2	NP_001254479.2:p.(Thr363=)	NC_000002.11:g.179659805C>T	(Likely) benign	5 labs	236d95fd12
7:143029874 CLCN1 G>A	7	143029874	143029874	G	A	CLCN1	c.1309G>A	NM_000083.3	NP_000074.3:p.(Ala437Thr)	NC_000007.13:g.143029874G>A	(Likely) benign	2 labs	796d4d0348
2:48028053 MSH6 C>A	2	48028053	48028053	C	A	MSH6	c.2931C>A	NM_000179.3	NP_000170.1:p.(Tyr977Ter)	NC_000002.11:g.48028053C>A	(Likely) pathogenic	2 labs	2374b5b04c
16:23360199 SCNN1B T>C	16	23360199	23360199	T	C	SCNN1B	c.279T>C	NM_000336.3	NP_000327.2:p.(Pro93=)	NC_000016.9:g.23360199T>C	(Likely) benign	2 labs	23758e82f5
16:89351930 ANKRD11 C>T	16	89351930	89351930	C	T	ANKRD11	c.1020G>A	NM_013275.6	NP_037407.4:p.(Thr340=)	NC_000016.9:g.89351930C>T	(Likely) benign	2 labs	7977f60b29
2:227968701 COL4A4 T>C	2	227968701	227968701	T	C	COL4A4	c.803A>G	NM_000092.5	NP_000083.3:p.(Tyr268Cys)	NC_000002.11:g.227968701T>C	VUS	2 labs	797a69a8e7
2:48025901 MSH6 G>T	2	48025901	48025901	G	T	MSH6	c.779G>T	NM_000179.3	NP_000170.1:p.(Gly260Val)	NC_000002.11:g.48025901G>T	VUS	2 labs	237657d825
17:38798731 SMARCE1 G>C	17	38798731	38798731	G	C	SMARCE1	c.132C>G	NM_003079.5	NP_003070.3:p.(Asn44Lys)	NC_000017.10:g.38798731G>C	(Likely) benign	2 labs	79a5525ccc
1:241665852 FH T>G	1	241665852	241665852	T	G	FH	c.1127A>C	NM_000143.4	NP_000134.2:p.(Gln376Pro)	NC_000001.10:g.241665852T>G	(Likely) pathogenic	2 labs	79cbd5b11e
11:124761441 ROBO4 G>A	11	124761441	124761441	G	A	ROBO4	c.1702C>T	NM_019055.6	NP_061928.4:p.(Arg568Ter)	NC_000011.9:g.124761441G>A	(Likely) pathogenic	2 labs	2383294d13
4:88534235 DSPP A>G	4	88534235	88534235	A	G	DSPP	c.897A>G	NM_014208.3	NP_055023.2:p.(Ser299=)	NC_000004.11:g.88534235A>G	(Likely) benign	2 labs	2386d61a58
4:114275917 ANK2 A>G	4	114275917	114275917	A	G	ANK2	c.6143A>G	NM_001148.4	NP_001139.3:p.(Gln2048Arg)	NC_000004.11:g.114275917A>G	(Likely) benign	2 labs	250307eeff
16:81971403 PLCG2 T>C	16	81971403	81971403	T	C	PLCG2	c.3093T>C	NM_002661.5	NP_002652.2:p.(Asn1031=)	NC_000016.9:g.81971403T>C	(Likely) benign	4 labs	238f20ee68
14:23884351 MYH7 G>C	14	23884351	23884351	G	C	MYH7	c.5412C>G	NM_000257.4	NP_000248.2:p.(Ala1804=)	NC_000014.8:g.23884351G>C	(Likely) benign	2 labs	239172a509
2:179558657 TTN G>A	2	179558657	179558657	G	A	TTN	c.31505C>T	NM_001267550.2	NP_001254479.2:p.(Ser10502Leu)	NC_000002.11:g.179558657G>A	VUS	2 labs	7b9923bb3a
2:215646084 BARD1 C>T	2	215646084	215646084	C	T	BARD1	c.514G>A	NM_000465.4	NP_000456.2:p.(Asp172Asn)	NC_000002.11:g.215646084C>T	VUS	2 labs	7b9c2ca185
2:179435369 TTN C>T	2	179435369	179435369	C	T	TTN	c.75490G>A	NM_001267550.2	NP_001254479.2:p.(Asp25164Asn)	NC_000002.11:g.179435369C>T	VUS	2 labs	23ad61596a
19:38993564 RYR1 T>G	19	38993564	38993564	T	G	RYR1	c.7880T>G	NM_000540.3	NP_000531.2:p.(Val2627Gly)	NC_000019.9:g.38993564T>G	VUS	2 labs	7ba71706bf
11:119215385 MFRP A>T	11	119215385	119215385	A	T	MFRP	c.855T>A	NM_031433.4	NP_113621.1:p.(Cys285Ter)	NC_000011.9:g.119215385A>T	(Likely) pathogenic	2 labs	7bba4cf58f
X:77268502 ATP7A G>C	X	77268502	77268502	G	C	ATP7A	c.2299G>C	NM_000052.7	NP_000043.4:p.(Val767Leu)	NC_000023.10:g.77268502G>C	(Likely) benign	4 labs	23b326e66c
2:152581466 NEB G>A	2	152581466	152581466	G	A	NEB	c.412C>T	NM_001164508.2	NP_001157980.2:p.(Arg138Ter)	NC_000002.11:g.152581466G>A	(Likely) pathogenic	2 labs	7bdc9ec182
17:62024442 SCN4A C>T	17	62024442	62024442	C	T	SCN4A	c.3404G>A	NM_000334.4	NP_000325.4:p.(Arg1135His)	NC_000017.10:g.62024442C>T	(Likely) pathogenic	2 labs	7c10288498
12:110236441 TRPV4 G>A	12	110236441	110236441	G	A	TRPV4	c.1130C>T	NM_021625.5	NP_067638.3:p.(Ala377Val)	NC_000012.11:g.110236441G>A	VUS	2 labs	7c55fab55f
1:44070676 PTPRF G>GT	1	44070676	44070677	G	GT	PTPRF	c.3135+6dup	NM_002840.5	NP_002831.2:p.?	NC_000001.10:g.44070677dup	(Likely) benign	2 labs	23c020d3a2
2:167137119 SCN9A G>A	2	167137119	167137119	G	A	SCN9A	c.2072-14C>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167137119G>A	(Likely) benign	2 labs	23c3552b6f
19:39055964 RYR1 C>T	19	39055964	39055964	C	T	RYR1	c.12990C>T	NM_000540.3	NP_000531.2:p.(Thr4330=)	NC_000019.9:g.39055964C>T	(Likely) benign	3 labs	7c8122978c
1:201330446 TNNT2 C>A	1	201330446	201330446	C	A	TNNT2	c.741G>T	NM_001276347.2	NP_001263276.1:p.(Lys247Asn)	NC_000001.10:g.201330446C>A	VUS	2 labs	2539cc61c1
12:76739927 BBS10 T>C	12	76739927	76739927	T	C	BBS10	c.1838A>G	NM_024685.4	NP_078961.3:p.(Tyr613Cys)	NC_000012.11:g.76739927T>C	(Likely) pathogenic	3 labs	253d6a4141
2:26672954 DRC1 G>A	2	26672954	26672954	G	A	DRC1	c.1599+1G>A	NM_145038.5	NP_659475.2:p.?	NC_000002.11:g.26672954G>A	(Likely) pathogenic	2 labs	7cdb6b3655
2:227979402 COL4A4 C>T	2	227979402	227979402	C	T	COL4A4	c.500G>A	NM_000092.4	NP_000083.3:p.(Gly167Glu)	NC_000002.11:g.227979402C>T	(Likely) pathogenic	2 labs	2541748143
6:7580621 DSP C>A	6	7580621	7580621	C	A	DSP	c.4198C>A	NM_004415.4	NP_004406.2:p.(Arg1400=)	NC_000006.11:g.7580621C>A	(Likely) benign	2 labs	23d00dc857
13:32900793 BRCA2 G>T	13	32900793	32900793	G	T	BRCA2	c.631+43G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900793G>T	(Likely) benign	3 labs	25433b4cde
1:45798232 MUTYH G>C	1	45798232	45798232	G	C	MUTYH	c.690+14C>G	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45798232G>C	(Likely) benign	3 labs	23d08c9dc0
13:49039094 RB1 CT>C	13	49039094	49039118	CT	C	RB1	c.2212-16del	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039118del	(Likely) benign	2 labs	7d81645b12
11:47469717 RAPSN G>A	11	47469717	47469717	G	A	RAPSN	c.193-15C>T	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47469717G>A	(Likely) benign	3 labs	254fef4997
22:38509534 PLA2G6 A>G	22	38509534	38509534	A	G	PLA2G6	c.2162T>C	NM_003560.4	NP_003551.2:p.(Val721Ala)	NC_000022.10:g.38509534A>G	VUS	2 labs	7dd6132be1
1:2160512 SKI A>G	1	2160512	2160512	A	G	SKI	c.307A>G	NM_003036.4	NP_003027.1:p.(Thr103Ala)	NC_000001.10:g.2160512A>G	VUS	2 labs	7de82c9f2a
16:1570738 IFT140 G>C	16	1570738	1570738	G	C	IFT140	c.3525C>G	NM_014714.4	NP_055529.2:p.(Thr1175=)	NC_000016.9:g.1570738G>C	VUS	2 labs	7df11a0a78
3:38648292 SCN5A C>T	3	38648292	38648292	C	T	SCN5A	c.1008G>A	NM_001099404.2	NP_001092874.1:p.(Pro336=)	NC_000003.11:g.38648292C>T	(Likely) benign	5 labs	23d782679a
3:38908852 SCN11A A>G	3	38908852	38908852	A	G	SCN11A	c.3911T>C	NM_001349253.2	NP_001336182.1:p.(Ile1304Thr)	NC_000003.11:g.38908852A>G	VUS	2 labs	7e3fc1e6b1
5:172659787 NKX2-5 G>A	5	172659787	172659787	G	A	NKX2-5	c.760C>T	NM_004387.4	NP_004378.1:p.(Pro254Ser)	NC_000005.9:g.172659787G>A	VUS	2 labs	7e7c643c09
2:31570376 XDH T>C	2	31570376	31570376	T	C	XDH	c.3276+12A>G	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31570376T>C	(Likely) benign	3 labs	23e9dedfa9
9:138645766 KCNT1 G>A	9	138645766	138645766	G	A	KCNT1	c.435-17G>A	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138645766G>A	(Likely) benign	2 labs	23f0848d27
20:43043159 HNF4A G>A	20	43043159	43043159	G	A	HNF4A	c.430G>A	NM_001287182.2	NP_001274111.1:p.(Val144Ile)	NC_000020.10:g.43043159G>A	(Likely) benign	2 labs	256eafb6e4
1:235543476 TBCE TTGTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTGTG	T	TBCE	c.100+48_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543512_235543529del	(Likely) benign	3 labs	23f9030ba6
17:41251893 BRCA1 T>G	17	41251893	41251893	T	G	BRCA1	c.446A>C	NM_007294.4	NP_009225.1:p.(Glu149Ala)	NC_000017.10:g.41251893T>G	(Likely) benign	2 labs	7f5f6574f1
5:80057395 MSH3 G>A	5	80057395	80057395	G	A	MSH3	c.1794G>A	NM_002439.5	NP_002430.3:p.(Ser598=)	NC_000005.9:g.80057395G>A	(Likely) benign	3 labs	257d5bc891
2:179650348 TTN TCATATC>T	2	179650348	179650357	TCATATC	T	TTN	c.2486_2491del	NM_001267550.2	NP_001254479.2:p.(Gly829_Tyr830del)	NC_000002.11:g.179650352_179650357del	VUS	2 labs	7fba5372b8
2:219922364 IHH G>A	2	219922364	219922364	G	A	IHH	c.368C>T	NM_002181.4	NP_002172.2:p.(Pro123Leu)	NC_000002.11:g.219922364G>A	VUS	2 labs	7fd2a85d05
6:170871054 TBP AGCAGCAGCAGCAGCAGCAGCAG>A	6	170871054	170871076	AGCAGCAGCAGCAGCAGCAGCAG	A	TBP	c.231_252del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer60)	NC_000006.11:g.170871055_170871076del	(Likely) benign	2 labs	240fe826ed
2:179586761 TTN C>T	2	179586761	179586761	C	T	TTN	c.22629G>A	NM_001267550.2	NP_001254479.2:p.(Pro7543=)	NC_000002.11:g.179586761C>T	(Likely) benign	3 labs	2410afe9b4
21:47536546 COL6A2 C>T	21	47536546	47536546	C	T	COL6A2	c.928-19C>T	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47536546C>T	(Likely) benign	3 labs	2412165c05
9:124081065 GSN G>A	9	124081065	124081065	G	A	GSN	c.1251G>A	NM_000177.5	NP_000168.1:p.(Val417=)	NC_000009.11:g.124081065G>A	(Likely) benign	2 labs	2594bdcc29
14:23886383 MYH7 G>A	14	23886383	23886383	G	A	MYH7	c.4498C>T	NM_000257.2	NP_000248.2:p.(Arg1500Trp)	NC_000014.8:g.23886383G>A	(Likely) pathogenic	2 labs	25a044df01
1:179544818 NPHS2 G>A	1	179544818	179544818	G	A	NPHS2	c.182C>T	NM_014625.3	NP_055440.1:p.(Ala61Val)	NC_000001.10:g.179544818G>A	(Likely) benign	2 labs	25a13e8faf
19:47259878 FKRP G>C	19	47259878	47259878	G	C	FKRP	c.1171G>C	NM_024301.5	NP_077277.1:p.(Gly391Arg)	NC_000019.9:g.47259878G>C	VUS	2 labs	81280e821c
12:112910758 PTPN11 A>G	12	112910758	112910758	A	G	PTPN11	c.767A>G	NM_002834.5	NP_002825.3:p.(Gln256Arg)	NC_000012.11:g.112910758A>G	(Likely) pathogenic	2 labs	812c693246
16:15835377 MYH11 C>T	16	15835377	15835377	C	T	MYH11	c.2802G>A	NM_002474.3	NP_002465.1:p.(Glu934=)	NC_000016.9:g.15835377C>T	(Likely) benign	5 labs	2433c364e4
3:37038191 MLH1 C>T	3	37038191	37038191	C	T	MLH1	c.198C>T	NM_000249.4	NP_000240.1:p.(Thr66=)	NC_000003.11:g.37038191C>T	(Likely) benign	3 labs	81610d4ca3
17:78187954 SGSH A>G	17	78187954	78187954	A	G	SGSH	c.663+17T>C	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78187954A>G	(Likely) benign	4 labs	243abe97e5
19:12767849 MAN2B1 C>A	19	12767849	12767849	C	A	MAN2B1	c.1441G>T	NM_000528.4	NP_000519.2:p.(Ala481Ser)	NC_000019.9:g.12767849C>A	(Likely) benign	2 labs	81733d74d1
2:179640492 TTN CT>C	2	179640492	179640494	CT	C	TTN	c.6098del	NM_001267550.2	NP_001254479.2:p.(Lys2033ArgfsTer13)	NC_000002.11:g.179640494del	(Likely) pathogenic	2 labs	24446fce97
11:108106443 ATM T>A	11	108106443	108106443	T	A	ATM	c.378T>A	NM_000051.4	NP_000042.3:p.(Asp126Glu)	NC_000011.9:g.108106443T>A	(Likely) benign	3 labs	819feb9f85
8:55540031 RP1 A>G	8	55540031	55540031	A	G	RP1	c.3589A>G	NM_006269.2	NP_006260.1:p.(Ser1197Gly)	NC_000008.10:g.55540031A>G	VUS	2 labs	8266a7b663
2:27695208 IFT172 T>A	2	27695208	27695208	T	A	IFT172	c.1433A>T	NM_015662.3	NP_056477.1:p.(Asn478Ile)	NC_000002.11:g.27695208T>A	(Likely) benign	3 labs	25b9da943d
17:62043537 SCN4A A>G	17	62043537	62043537	A	G	SCN4A	c.1167T>C	NM_000334.4	NP_000325.4:p.(Tyr389=)	NC_000017.10:g.62043537A>G	(Likely) benign	2 labs	8285efcdb4
14:23891476 MYH7 C>T	14	23891476	23891476	C	T	MYH7	c.3158G>A	NM_000257.2	NP_000248.2:p.(Arg1053Gln)	NC_000014.8:g.23891476C>T	(Likely) pathogenic	2 labs	25c13952f5
14:68252669 ZFYVE26 G>C	14	68252669	68252669	G	C	ZFYVE26	c.3210C>G	NM_015346.4	NP_056161.2:p.(Pro1070=)	NC_000014.8:g.68252669G>C	(Likely) benign	2 labs	82e813287e
7:128487849 FLNC C>T	7	128487849	128487849	C	T	FLNC	c.4387C>T	NM_001458.5	NP_001449.3:p.(Gln1463Ter)	NC_000007.13:g.128487849C>T	(Likely) pathogenic	2 labs	245d27e956
2:227979413 COL4A4 C>G	2	227979413	227979413	C	G	COL4A4	c.490-1G>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227979413C>G	(Likely) pathogenic	2 labs	25d378f85c
4:3491504 DOK7 G>A	4	3491504	3491504	G	A	DOK7	c.753G>A	NM_173660.5	NP_775931.3:p.(Ala251=)	NC_000004.11:g.3491504G>A	(Likely) benign	2 labs	8353bdfe48
9:35807072 NPR2 G>A	9	35807072	35807072	G	A	NPR2	c.2572G>A	NM_003995.4	NP_003986.2:p.(Asp858Asn)	NC_000009.11:g.35807072G>A	VUS	2 labs	8380e13a04
11:108122702 ATM C>T	11	108122702	108122702	C	T	ATM	c.1746C>T	NM_000051.4	NP_000042.3:p.(Phe582=)	NC_000011.9:g.108122702C>T	(Likely) benign	2 labs	839256c033
1:78392589 NEXN T>A	1	78392589	78392589	T	A	NEXN	c.864+12T>A	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392589T>A	(Likely) benign	4 labs	24630da790
14:74969562 LTBP2 T>C	14	74969562	74969562	T	C	LTBP2	c.4964A>G	NM_000428.3	NP_000419.1:p.(Tyr1655Cys)	NC_000014.8:g.74969562T>C	VUS	2 labs	83b6e7a0a8
7:66098412 KCTD7 C>T	7	66098412	66098412	C	T	KCTD7	c.295C>T	NM_153033.5	NP_694578.1:p.(Arg99Ter)	NC_000007.13:g.66098412C>T	(Likely) pathogenic	2 labs	83ba9ed810
3:38835461 SCN10A C>A	3	38835461	38835461	C	A	SCN10A	c.41G>T	NM_006514.4	NP_006505.4:p.(Arg14Leu)	NC_000003.11:g.38835461C>A	(Likely) benign	3 labs	83ceb3363b
14:89297204 TTC8 G>A	14	89297204	89297204	G	A	TTC8	c.115-2833G>A	NM_144596.4	NP_653197.2:p.?	NC_000014.8:g.89297204G>A	(Likely) benign	2 labs	3719d2c52a
9:6556208 GLDC A>T	9	6556208	6556208	A	T	GLDC	c.2147T>A	NM_000170.3	NP_000161.2:p.(Leu716His)	NC_000009.11:g.6556208A>T	VUS	2 labs	840093556e
15:51799444 DMXL2 C>T	15	51799444	51799444	C	T	DMXL2	c.2651G>A	NM_001378457.1	NP_001365386.1:p.(Arg884His)	NC_000015.9:g.51799444C>T	VUS	2 labs	8421da18c2
2:227872132 COL4A4 A>T	2	227872132	227872132	A	T	COL4A4	c.4982T>A	NM_000092.5	NP_000083.3:p.(Phe1661Tyr)	NC_000002.11:g.227872132A>T	VUS	2 labs	847aa3a4af
5:149754220 TCOF1 C>T	5	149754220	149754220	C	T	TCOF1	c.1124C>T	NM_001371623.1	NP_001358552.1:p.(Ser375Leu)	NC_000005.9:g.149754220C>T	VUS	2 labs	8486f3db2d
3:38592067 SCN5A C>T	3	38592067	38592067	C	T	SCN5A	c.5796G>A	NM_001099404.2	NP_001092874.1:p.(Ala1932=)	NC_000003.11:g.38592067C>T	(Likely) benign	2 labs	25fc530bb2
17:79892202 PYCR1 C>T	17	79892202	79892202	C	T	PYCR1	c.797G>A	NM_006907.4	NP_008838.2:p.(Arg266Gln)	NC_000017.10:g.79892202C>T	(Likely) pathogenic	2 labs	84adf4f2e9
12:48368520 COL2A1 T>C	12	48368520	48368520	T	C	COL2A1	c.4012A>G	NM_001844.5	NP_001835.3:p.(Ser1338Gly)	NC_000012.11:g.48368520T>C	VUS	2 labs	84dcc43589
3:12458362 PPARG T>G	3	12458362	12458362	T	G	PPARG	c.889T>G	NM_138711.6	NP_619725.3:p.(Tyr297Asp)	NC_000003.11:g.12458362T>G	VUS	2 labs	84dfcb1f79
12:112888195 PTPN11 T>C	12	112888195	112888195	T	C	PTPN11	c.211T>C	NM_002834.5	NP_002825.3:p.(Phe71Leu)	NC_000012.11:g.112888195T>C	(Likely) pathogenic	2 labs	84e05a40fd
9:36246342 GNE C>T	9	36246342	36246342	C	T	GNE	c.302G>A	NM_005476.7	NP_005467.1:p.(Arg101His)	NC_000009.11:g.36246342C>T	VUS	2 labs	84fac5e289
6:108243126 SEC63 A>G	6	108243126	108243126	A	G	SEC63	c.340-13T>C	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243126A>G	(Likely) benign	2 labs	332fe1e9b8
10:127456150 MMP21 G>A	10	127456150	127456150	G	A	MMP21	c.1361C>T	NM_147191.1	NP_671724.1:p.(Ala454Val)	NC_000010.10:g.127456150G>A	(Likely) benign	2 labs	855038d72b
11:108150265 ATM T>C	11	108150265	108150265	T	C	ATM	c.3332T>C	NM_000051.4	NP_000042.3:p.(Leu1111Pro)	NC_000011.9:g.108150265T>C	VUS	6 labs	24a26f3377
19:18980168 GDF1 C>T	19	18980168	18980168	C	T	GDF1	c.357G>A	NM_001492.6	NP_001483.3:p.(Ser119=)	NC_000019.9:g.18980168C>T	(Likely) benign	2 labs	85ba19ef6c
8:55542247 RP1 T>G	8	55542247	55542247	T	G	RP1	c.5805T>G	NM_006269.2	NP_006260.1:p.(Phe1935Leu)	NC_000008.10:g.55542247T>G	VUS	2 labs	85c5c08846
6:31915819 CFB C>T	6	31915819	31915819	C	T	CFB	c.858C>T	NM_001710.5	NP_001701.2:p.(Phe286=)	NC_000006.11:g.31915819C>T	(Likely) benign	2 labs	260b0d845c
17:41258473 BRCA1 CT>C	17	41258473	41258477	CT	C	BRCA1	c.211del	NM_007294.4	NP_009225.1:p.(Arg71GlyfsTer17)	NC_000017.10:g.41258477del	(Likely) pathogenic	2 labs	24b5482b14
2:179596702 TTN C>T	2	179596702	179596702	C	T	TTN	c.16904-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179596702C>T	(Likely) benign	2 labs	864f03799a
X:18582590 CDKL5 C>T	X	18582590	18582590	C	T	CDKL5	c.100-7C>T	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18582590C>T	(Likely) benign	2 labs	24b6192f80
7:151932965 KMT2C C>T	7	151932965	151932965	C	T	KMT2C	c.2706G>A	NM_170606.3	NP_733751.2:p.(Ser902=)	NC_000007.13:g.151932965C>T	(Likely) benign	2 labs	8680684a98
16:86602272 FOXC2 A>G	16	86602272	86602272	A	G	FOXC2	c.1331A>G	NM_005251.3	NP_005242.1:p.(Gln444Arg)	NC_000016.9:g.86602272A>G	(Likely) benign	4 labs	24c252e6b9
12:88483128 CEP290 C>T	12	88483128	88483128	C	T	CEP290	c.3710G>A	NM_025114.4	NP_079390.3:p.(Arg1237His)	NC_000012.11:g.88483128C>T	(Likely) benign	2 labs	86a11ac780
2:241658482 KIF1A C>T	2	241658482	241658482	C	T	KIF1A	c.4852G>A	NM_004321.8	NP_004312.2:p.(Val1618Met)	NC_000002.11:g.241658482C>T	VUS	2 labs	24c8e776c8
2:152404881 NEB G>T	2	152404881	152404881	G	T	NEB	c.20098C>A	NM_001271208.1	NP_001258137.1:p.(Leu6700Ile)	NC_000002.11:g.152404881G>T	VUS	2 labs	2623801da8
3:38645204 SCN5A G>A	3	38645204	38645204	G	A	SCN5A	c.1889C>T	NM_198056.3	NP_932173.1:p.(Thr630Met)	NC_000003.11:g.38645204G>A	VUS	2 labs	24cd0d6fca
11:118962193 HMBS C>T	11	118962193	118962193	C	T	HMBS	c.569C>T	NM_000190.4	NP_000181.2:p.(Thr190Ile)	NC_000011.9:g.118962193C>T	VUS	2 labs	870119eb52
X:153792168 IKBKG T>C	X	153792168	153792168	T	C	IKBKG	c.1056-6T>C	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153792168T>C	(Likely) benign	2 labs	2623cae3ff
17:19578873 ALDH3A2 A>T	17	19578873	19578873	A	T	ALDH3A2	c.1446A>T	NM_000382.3	NP_000373.1:p.(Ala482=)	NC_000017.10:g.19578873A>T	(Likely) benign	3 labs	24d323ac85
15:89390619 ACAN C>T	15	89390619	89390619	C	T	ACAN	c.1575C>T	NM_001369268.1	NP_001356197.1:p.(Asp525=)	NC_000015.9:g.89390619C>T	(Likely) benign	2 labs	8729f1c16e
X:77298875 ATP7A C>T	X	77298875	77298875	C	T	ATP7A	c.4066C>T	NM_000052.6	NP_000043.4:p.(Arg1356Trp)	NC_000023.10:g.77298875C>T	(Likely) benign	2 labs	87569c7446
12:6167137 VWF A>G	12	6167137	6167137	A	G	VWF	c.1607T>C	NM_000552.5	NP_000543.3:p.(Leu536Pro)	NC_000012.11:g.6167137A>G	(Likely) pathogenic	2 labs	8764f50936
2:21235475 APOB T>C	2	21235475	21235475	T	C	APOB	c.4265=	NM_000384.3	NP_000375.3:p.(Cys1422=)	NC_000002.11:g.21235475T>C	(Likely) benign	2 labs	24d49a364e
11:1780329 CTSD G>A	11	1780329	1780329	G	A	CTSD	c.353-12C>T	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1780329G>A	(Likely) benign	3 labs	24df9706cd
11:128781289 KCNJ5 C>T	11	128781289	128781289	C	T	KCNJ5	c.121C>T	NM_000890.5	NP_000881.3:p.(Arg41Cys)	NC_000011.9:g.128781289C>T	(Likely) benign	2 labs	263d30ebcd
2:202060562 CASP10 C>T	2	202060562	202060562	C	T	CASP10	c.578-3C>T	NM_032977.4	NP_116759.2:p.?	NC_000002.11:g.202060562C>T	(Likely) benign	2 labs	24e11a8b20
5:170837513 NPM1 C>CT	5	170837513	170837526	C	CT	NPM1	c.847-5dup	NM_002520.6	NP_002511.1:p.?	NC_000005.9:g.170837526dup	(Likely) benign	2 labs	26427021b2
14:75356070 DLST AT>A	14	75356070	75356090	AT	A	DLST	c.274+38del	NM_001933.5	NP_001924.2:p.?	NC_000014.8:g.75356090del	(Likely) benign	2 labs	2642a4aaf8
15:73622039 HCN4 T>C	15	73622039	73622039	T	C	HCN4	c.1465A>G	NM_005477.3	NP_005468.1:p.(Met489Val)	NC_000015.9:g.73622039T>C	VUS	2 labs	24e3266595
10:69918270 MYPN G>T	10	69918270	69918270	G	T	MYPN	c.1345G>T	NM_032578.4	NP_115967.2:p.(Gly449Cys)	NC_000010.10:g.69918270G>T	VUS	2 labs	88301e614b
12:2224511 CACNA1C C>T	12	2224511	2224511	C	T	CACNA1C	c.171C>T	NM_199460.4	NP_955630.3:p.(Asp57=)	NC_000012.11:g.2224511C>T	(Likely) benign	3 labs	886e1a84d2
12:133237753 POLE G>GA	12	133237753	133237767	G	GA	POLE	c.2865-4dup	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133237767dup	(Likely) benign	2 labs	888b98d364
10:72360648 PRF1 C>T	10	72360648	72360648	C	T	PRF1	c.11G>A	NM_001083116.1	NP_001076585.1:p.(Arg4His)	NC_000010.10:g.72360648C>T	(Likely) benign	2 labs	265ab3755f
12:66786073 GRIP1 A>G	12	66786073	66786073	A	G	GRIP1	c.2308+15T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66786073A>G	(Likely) benign	2 labs	24f3ac6a61
20:62038585 KCNQ2 C>T	20	62038585	62038585	C	T	KCNQ2	c.2031G>A	NM_172107.4	NP_742105.1:p.(Arg677=)	NC_000020.10:g.62038585C>T	(Likely) benign	2 labs	24f9228fc0
X:133620474 HPRT1 G>GT	X	133620474	133620488	G	GT	HPRT1	c.319-7dup	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133620488dup	(Likely) benign	2 labs	3719fd6a4f
17:33427906 RAD51D C>T	17	33427906	33427906	C	T	RAD51D	c.*66G>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33427906C>T	(Likely) benign	2 labs	8913e1cd2d
6:129511373 LAMA2 T>C	6	129511373	129511373	T	C	LAMA2	c.1491T>C	NM_000426.4	NP_000417.3:p.(Cys497=)	NC_000006.11:g.129511373T>C	(Likely) benign	3 labs	8932c10dda
6:129774120 LAMA2 G>GT	6	129774120	129774128	G	GT	LAMA2	c.6430-5dup	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129774128dup	(Likely) benign	2 labs	893a9514f1
18:19780721 GATA6 G>C	18	19780721	19780721	G	C	GATA6	c.1723G>C	NM_005257.6	NP_005248.2:p.(Ala575Pro)	NC_000018.9:g.19780721G>C	(Likely) benign	2 labs	895a560822
2:219204534 PNKD G>A	2	219204534	219204534	G	A	PNKD	c.265G>A	NM_015488.5	NP_056303.3:p.(Gly89Arg)	NC_000002.11:g.219204534G>A	(Likely) benign	4 labs	250b9b21c8
2:169996070 LRP2 C>T	2	169996070	169996070	C	T	LRP2	c.13250G>A	NM_004525.3	NP_004516.2:p.(Gly4417Asp)	NC_000002.11:g.169996070C>T	(Likely) benign	2 labs	8996d3f5c6
2:21229905 APOB T>C	2	21229905	21229905	T	C	APOB	c.9835A>G	NM_000384.3	NP_000375.3:p.(Ser3279Gly)	NC_000002.11:g.21229905T>C	(Likely) benign	2 labs	2510e48a9d
22:51159293 SHANK3 G>T	22	51159293	51159293	G	T	SHANK3	c.3257G>T	NM_001372044.1	NP_001358973.1:p.(Gly1086Val)	NC_000022.10:g.51159293G>T	(Likely) benign	2 labs	269696cbb8
15:60789728 RORA G>A	15	60789728	60789728	G	A	RORA	c.1498C>T	NM_134261.3	NP_599023.1:p.(Arg500Ter)	NC_000015.9:g.60789728G>A	(Likely) pathogenic	2 labs	8a65df4a49
2:228162451 COL4A3 G>A	2	228162451	228162451	G	A	COL4A3	c.3627G>A	NM_000091.4	NP_000082.2:p.(Met1209Ile)	NC_000002.11:g.228162451G>A	(Likely) benign	2 labs	26ad42cda0
14:64604650 SYNE2 A>G	14	64604650	64604650	A	G	SYNE2	c.14792A>G	NM_182914.3	NP_878918.2:p.(Lys4931Arg)	NC_000014.8:g.64604650A>G	(Likely) benign	2 labs	252f68c85f
2:71906171 DYSF T>C	2	71906171	71906171	T	C	DYSF	c.5882-16T>C	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71906171T>C	(Likely) benign	2 labs	25353e0f23
11:76886443 MYO7A G>C	11	76886443	76886443	G	C	MYO7A	c.2120G>C	NM_000260.4	NP_000251.3:p.(Arg707Pro)	NC_000011.9:g.76886443G>C	VUS	2 labs	8b0a7b5532
14:68251991 ZFYVE26 G>A	14	68251991	68251991	G	A	ZFYVE26	c.3308C>T	NM_015346.4	NP_056161.2:p.(Pro1103Leu)	NC_000014.8:g.68251991G>A	(Likely) benign	2 labs	8b246fc226
2:179611519 TTN A>G	2	179611519	179611519	A	G	TTN	c.10360+6332T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179611519A>G	(Likely) benign	2 labs	8b40c0d9d1
6:51524339 PKHD1 C>G	6	51524339	51524339	C	G	PKHD1	c.10585G>C	NM_138694.4	NP_619639.3:p.(Glu3529Gln)	NC_000006.11:g.51524339C>G	(Likely) benign	3 labs	254b41208c
7:44184769 GCK A>T	7	44184769	44184769	A	T	GCK	c.1364T>A	NM_000162.5	NP_000153.1:p.(Val455Glu)	NC_000007.13:g.44184769A>T	(Likely) pathogenic	2 labs	8b9cfbd208
15:73660154 HCN4 T>C	15	73660154	73660154	T	C	HCN4	c.458A>G	NM_005477.3	NP_005468.1:p.(Glu153Gly)	NC_000015.9:g.73660154T>C	(Likely) benign	5 labs	2552ac4515
17:36099430 HNF1B C>T	17	36099430	36099430	C	T	HNF1B	c.544+1G>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36099430C>T	(Likely) pathogenic	2 labs	26cfea3452
X:30326983 NR0B1 C>T	X	30326983	30326983	C	T	NR0B1	c.498G>A	NM_000475.5	NP_000466.2:p.(Arg166=)	NC_000023.10:g.30326983C>T	(Likely) benign	2 labs	2571411601
1:10397567 KIF1B A>G	1	10397567	10397567	A	G	KIF1B	c.3260A>G	NM_015074.3	NP_055889.2:p.(Tyr1087Cys)	NC_000001.10:g.10397567A>G	(Likely) benign	2 labs	26d1e4412f
2:179481458 TTN A>C	2	179481458	179481458	A	C	TTN	c.48158T>G	NM_001267550.2	NP_001254479.2:p.(Ile16053Ser)	NC_000002.11:g.179481458A>C	VUS	2 labs	8c849adaa8
8:1728653 CLN8 G>A	8	1728653	1728653	G	A	CLN8	c.781G>A	NM_018941.4	NP_061764.2:p.(Val261Met)	NC_000008.10:g.1728653G>A	VUS	2 labs	8c987b4ba5
19:8464908 RAB11B G>A	19	8464908	8464908	G	A	RAB11B	c.202G>A	NM_004218.4	NP_004209.2:p.(Ala68Thr)	NC_000019.9:g.8464908G>A	(Likely) pathogenic	2 labs	8cb2ac4bea
3:38674475 SCN5A C>T	3	38674475	38674475	C	T	SCN5A	c.273+51G>A	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38674475C>T	(Likely) benign	2 labs	26d9f41c2a
12:52867342 KRT6C A>G	12	52867342	52867342	A	G	KRT6C	c.180T>C	NM_173086.5	NP_775109.2:p.(Ser60=)	NC_000012.11:g.52867342A>G	(Likely) benign	2 labs	257e2928c3
19:13192555 NFIX G>A	19	13192555	13192555	G	A	NFIX				NC_000019.9:g.13192555G>A	(Likely) benign	2 labs	8d3bab22dc
7:6026839 PMS2 A>G	7	6026839	6026839	A	G	PMS2	c.1557T>C	NM_000535.7	NP_000526.2:p.(Tyr519=)	NC_000007.13:g.6026839A>G	(Likely) benign	2 labs	8d5d4f6ec4
1:116247824 CASQ2 C>T	1	116247824	116247824	C	T	CASQ2	c.928G>A	NM_001232.3	NP_001223.2:p.(Asp310Asn)	NC_000001.10:g.116247824C>T	(Likely) benign	2 labs	26f7dec38f
17:7577120 TP53 C>T	17	7577120	7577120	C	T	TP53	c.818G>A	NM_000546.6	NP_000537.3:p.(Arg273His)	NC_000017.10:g.7577120C>T	(Likely) pathogenic	3 labs	8e0bd96d50
17:7579432 TP53 A>G	17	7579432	7579432	A	G	TP53	c.255T>C	NM_000546.6	NP_000537.3:p.(Pro85=)	NC_000017.10:g.7579432A>G	(Likely) benign	2 labs	8e0d884d08
6:51889764 PKHD1 G>A	6	51889764	51889764	G	A	PKHD1	c.4844C>T	NM_138694.4	NP_619639.3:p.(Thr1615Met)	NC_000006.11:g.51889764G>A	(Likely) benign	2 labs	2713f3fcad
17:42945264 EFTUD2 G>A	17	42945264	42945264	G	A	EFTUD2	c.1060C>T	NM_004247.4	NP_004238.3:p.(Arg354Ter)	NC_000017.10:g.42945264G>A	(Likely) pathogenic	2 labs	8e809e6e4e
15:43018559 CDAN1 C>T	15	43018559	43018559	C	T	CDAN1	c.3153G>A	NM_138477.4	NP_612486.2:p.(Glu1051=)	NC_000015.9:g.43018559C>T	(Likely) benign	2 labs	8ed78c0903
1:158647495 SPTA1 A>T	1	158647495	158647495	A	T	SPTA1	c.942T>A	NM_003126.4	NP_003117.2:p.(Ala314=)	NC_000001.10:g.158647495A>T	(Likely) benign	2 labs	25a82407f1
16:2169121 PKD1 CTTAAA>C	16	2169121	2169132	CTTAAA	C	PKD1	c.348_352del	NM_001009944.3	NP_001009944.3:p.(Asn116LysfsTer2)	NC_000016.9:g.2169128_2169132del	(Likely) pathogenic	2 labs	8f247169d7
1:160105632 ATP1A2 G>A	1	160105632	160105632	G	A	ATP1A2	c.2288G>A	NM_000702.4	NP_000693.1:p.(Arg763His)	NC_000001.10:g.160105632G>A	(Likely) pathogenic	2 labs	8f3ad53b58
13:32912734 BRCA2 G>A	13	32912734	32912734	G	A	BRCA2	c.4242G>A	NM_000059.4	NP_000050.3:p.(Thr1414=)	NC_000013.10:g.32912734G>A	(Likely) benign	3 labs	8f6d49484d
2:179571423 TTN G>T	2	179571423	179571423	G	T	TTN	c.29178C>A	NM_001267550.2	NP_001254479.2:p.(Ile9726=)	NC_000002.11:g.179571423G>T	(Likely) benign	5 labs	25af5d94a0
16:14014038 ERCC4 C>T	16	14014038	14014038	C	T	ERCC4	c.16C>T	NM_005236.3	NP_005227.1:p.(Pro6Ser)	NC_000016.9:g.14014038C>T	VUS	2 labs	914af46bf8
19:38951215 RYR1 C>A	19	38951215	38951215	C	A	RYR1	c.2561C>A	NM_000540.3	NP_000531.2:p.(Pro854His)	NC_000019.9:g.38951215C>A	VUS	2 labs	905862e2ad
17:41258494 BRCA1 C>T	17	41258494	41258494	C	T	BRCA1	c.191G>A	NM_007294.4	NP_009225.1:p.(Cys64Tyr)	NC_000017.10:g.41258494C>T	(Likely) pathogenic	4 labs	25c61a9b93
17:73520359 TSEN54 C>G	17	73520359	73520359	C	G	TSEN54	c.1447C>G	NM_207346.3	NP_997229.2:p.(Pro483Ala)	NC_000017.10:g.73520359C>G	(Likely) benign	3 labs	25c78c333d
7:128481578 FLNC A>C	7	128481578	128481578	A	C	FLNC	c.2078A>C	NM_001458.5	NP_001449.3:p.(Asp693Ala)	NC_000007.13:g.128481578A>C	(Likely) benign	5 labs	25d12f1248
11:5248155 HBB C>G	11	5248155	5248155	C	G	HBB	c.92+5G>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5248155C>G	(Likely) pathogenic	2 labs	90a563a041
11:22301191 ANO5 G>A	11	22301191	22301191	G	A	ANO5	c.2622G>A	NM_213599.3	NP_998764.1:p.(Lys874=)	NC_000011.9:g.22301191G>A	(Likely) benign	2 labs	25d162f385
15:23890893 MAGEL2 T>TG	15	23890893	23890900	T	TG	MAGEL2	c.1996dup	NM_019066.5	NP_061939.3:p.(Gln666ProfsTer47)	NC_000015.9:g.23890900dup	(Likely) pathogenic	2 labs	25d4cfea5a
2:228113210 COL4A3 G>T	2	228113210	228113210	G	T	COL4A3	c.520G>T	NM_000091.4	NP_000082.2:p.(Gly174Trp)	NC_000002.11:g.228113210G>T	(Likely) pathogenic	2 labs	2760e72e3c
6:7572058 DSP C>G	6	7572058	7572058	C	G	DSP	c.1904-17C>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572058C>G	(Likely) benign	4 labs	25df20086f
17:56811554 RAD51C C>T	17	56811554	56811554	C	T	RAD51C	c.1102C>T	NM_058216.3	NP_478123.1:p.(Arg368Trp)	NC_000017.10:g.56811554C>T	VUS	2 labs	91fedddc07
15:67473608 SMAD3 G>A	15	67473608	67473608	G	A	SMAD3	c.688G>A	NM_005902.4	NP_005893.1:p.(Ala230Thr)	NC_000015.9:g.67473608G>A	VUS	2 labs	923426d442
11:76915174 MYO7A G>A	11	76915174	76915174	G	A	MYO7A	c.5380G>A	NM_000260.4	NP_000251.3:p.(Glu1794Lys)	NC_000011.9:g.76915174G>A	VUS	2 labs	924e1307f0
14:23862195 MYH6 G>A	14	23862195	23862195	G	A	MYH6	c.3177C>T	NM_002471.4	NP_002462.2:p.(Gly1059=)	NC_000014.8:g.23862195G>A	(Likely) benign	5 labs	25f4788218
1:110149039 GNAT2 G>A	1	110149039	110149039	G	A	GNAT2	c.481C>T	NM_001377295.2	NP_001364224.1:p.(Arg161Ter)	NC_000001.10:g.110149039G>A	(Likely) pathogenic	2 labs	92949688a6
11:68701948 IGHMBP2 C>T	11	68701948	68701948	C	T	IGHMBP2	c.1554C>T	NM_002180.3	NP_002171.2:p.(Val518=)	NC_000011.9:g.68701948C>T	(Likely) benign	2 labs	25f582c5f7
9:136319670 ADAMTS13 C>T	9	136319670	136319670	C	T	ADAMTS13	c.3178C>T	NM_139027.6	NP_620596.2:p.(Arg1060Trp)	NC_000009.11:g.136319670C>T	(Likely) pathogenic	2 labs	92e5544aca
22:29730256 AP1B1 G>C	22	29730256	29730256	G	C	AP1B1	c.2307C>G	NM_001127.4	NP_001118.3:p.(Asn769Lys)	NC_000022.10:g.29730256G>C	VUS	2 labs	933f0336ae
15:80450389 FAH G>A	15	80450389	80450389	G	A	FAH	c.82-13G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80450389G>A	(Likely) benign	3 labs	25fe111147
22:29090118 CHEK2 T>C	22	29090118	29090118	T	C	CHEK2	c.1376-13A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29090118T>C	VUS	2 labs	9380aa2204
10:97393367 ALDH18A1 G>A	10	97393367	97393367	G	A	ALDH18A1	c.598C>T	NM_002860.4	NP_002851.2:p.(Arg200Cys)	NC_000010.10:g.97393367G>A	VUS	2 labs	939120ebc5
1:207930905 CD46 C>T	1	207930905	207930905	C	T	CD46	c.307C>T	NM_002389.4	NP_002380.3:p.(Arg103Trp)	NC_000001.10:g.207930905C>T	(Likely) pathogenic	2 labs	27b0e6df21
16:88713236 CYBA A>G	16	88713236	88713236	A	G	CYBA	c.214T>C	NM_000101.4	NP_000092.2:p.(Tyr72His)	NC_000016.9:g.88713236A>G	(Likely) benign	2 labs	2613330f6c
1:201052283 CACNA1S G>A	1	201052283	201052283	G	A	CACNA1S	c.1393+7C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201052283G>A	(Likely) benign	2 labs	93fe42b5bc
9:130430476 STXBP1 C>T	9	130430476	130430476	C	T	STXBP1	c.902+10C>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130430476C>T	(Likely) benign	2 labs	261eac7d5f
16:89349128 ANKRD11 G>A	16	89349128	89349128	G	A	ANKRD11	c.3822C>T	NM_013275.6	NP_037407.4:p.(Ala1274=)	NC_000016.9:g.89349128G>A	(Likely) benign	2 labs	943ae7421f
11:65325190 LTBP3 G>A	11	65325190	65325190	G	A	LTBP3	c.241C>T	NM_001130144.3	NP_001123616.1:p.(Arg81Trp)	NC_000011.9:g.65325190G>A	VUS	2 labs	943a2e805b
20:62839407 MYT1 AGAG>A	20	62839407	62839421	AGAG	A	MYT1	c.870_872del	NM_004535.3	NP_004526.1:p.(Glu306del)	NC_000020.10:g.62839419_62839421del	(Likely) benign	2 labs	2625e20037
19:11217303 LDLR C>T	19	11217303	11217303	C	T	LDLR	c.757C>T	NM_000527.5	NP_000518.1:p.(Arg253Trp)	NC_000019.9:g.11217303C>T	(Likely) benign	2 labs	946655b78b
17:59871030 BRIP1 T>C	17	59871030	59871030	T	C	BRIP1	c.1401A>G	NM_032043.3	NP_114432.2:p.(Ile467Met)	NC_000017.10:g.59871030T>C	VUS	2 labs	94764a43e6
2:179393124 TTN G>A	2	179393124	179393124	G	A	TTN	c.107254C>T	NM_001267550.2	NP_001254479.2:p.(Arg35752Cys)	NC_000002.11:g.179393124G>A	(Likely) benign	3 labs	262c414dd8
11:111782231 CRYAB G>C	11	111782231	111782231	G	C	CRYAB	c.201+17C>G	NM_001885.3	NP_001876.1:p.?	NC_000011.9:g.111782231G>C	VUS	3 labs	2632baf8ee
16:23646866 PALB2 T>C	16	23646866	23646866	T	C	PALB2	c.1001A>G	NM_024675.4	NP_078951.2:p.(Tyr334Cys)	NC_000016.9:g.23646866T>C	VUS	2 labs	951dfbc69d
17:41219694 BRCA1 C>A	17	41219694	41219694	C	A	BRCA1	c.5005G>T	NM_007294.3	NP_009225.1:p.(Ala1669Ser)	NC_000017.10:g.41219694C>A	(Likely) benign	2 labs	333fc680f3
10:89623861 PTEN T>C	10	89623861	89623861	T	C	PTEN	c.-366T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623861T>C	(Likely) benign	2 labs	95511961a5
16:90001611 TUBB3 G>A	16	90001611	90001611	G	A	TUBB3	c.752G>A	NM_006086.4	NP_006077.2:p.(Arg251His)	NC_000016.9:g.90001611G>A	VUS	2 labs	9554aee94b
8:61654268 CHD7 A>G	8	61654268	61654268	A	G	CHD7	c.277A>G	NM_017780.4	NP_060250.2:p.(Thr93Ala)	NC_000008.10:g.61654268A>G	(Likely) benign	4 labs	2633486ab1
20:30662426 HCK A>G	20	30662426	30662426	A	G	HCK	c.270A>G	NM_001172132.2	NP_001165603.1:p.(Glu90=)	NC_000020.10:g.30662426A>G	(Likely) benign	2 labs	27da263a25
15:43017676 CDAN1 G>A	15	43017676	43017676	G	A	CDAN1	c.3450+11C>T	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43017676G>A	(Likely) benign	2 labs	956cfab028
20:31017720 ASXL1 C>T	20	31017720	31017720	C	T	ASXL1	c.582C>T	NM_015338.6	NP_056153.2:p.(His194=)	NC_000020.10:g.31017720C>T	(Likely) benign	2 labs	95ac339ae9
16:23615000 PALB2 T>C	16	23615000	23615000	T	C	PALB2	c.3351-10A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23615000T>C	(Likely) benign	2 labs	960fd9bdfc
12:5154242 KCNA5 C>T	12	5154242	5154242	C	T	KCNA5	c.929C>T	NM_002234.4	NP_002225.2:p.(Pro310Leu)	NC_000012.11:g.5154242C>T	(Likely) benign	2 labs	27f54558af
22:37470651 TMPRSS6 G>A	22	37470651	37470651	G	A	TMPRSS6	c.1440C>T	NM_001374504.1	NP_001361433.1:p.(Cys480=)	NC_000022.10:g.37470651G>A	(Likely) benign	2 labs	966555a496
9:137664670 COL5A1 A>C	9	137664670	137664670	A	C	COL5A1	c.2321A>C	NM_000093.5	NP_000084.3:p.(Lys774Thr)	NC_000009.11:g.137664670A>C	VUS	3 labs	264b039b37
10:99509251 ZFYVE27 G>T	10	99509251	99509251	G	T	ZFYVE27	c.572G>T	NM_144588.7	NP_653189.3:p.(Gly191Val)	NC_000010.10:g.99509251G>T	(Likely) benign	2 labs	264d7118ff
14:50606687 SOS2 T>C	14	50606687	50606687	T	C	SOS2	c.2758A>G	NM_006939.4	NP_008870.2:p.(Ile920Val)	NC_000014.8:g.50606687T>C	VUS	2 labs	96e572b0aa
2:179395893 TTN C>T	2	179395893	179395893	C	T	TTN	c.105449G>A	NM_001267550.2	NP_001254479.2:p.(Cys35150Tyr)	NC_000002.11:g.179395893C>T	VUS	3 labs	2652c37218
17:41246298 BRCA1 T>C	17	41246298	41246298	T	C	BRCA1	c.1250A>G	NM_007294.4	NP_009225.1:p.(Asn417Ser)	NC_000017.10:g.41246298T>C	(Likely) benign	2 labs	971b59368a
3:71021785 FOXP1 G>A	3	71021785	71021785	G	A	FOXP1	c.1573C>T	NM_001349338.3	NP_001336267.1:p.(Arg525Ter)	NC_000003.11:g.71021785G>A	(Likely) pathogenic	2 labs	9738450fde
17:36099634 HNF1B G>A	17	36099634	36099634	G	A	HNF1B	c.345-4C>T	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36099634G>A	(Likely) benign	2 labs	281c702049
12:122243018 SETD1B C>T	12	122243018	122243018	C	T	SETD1B	c.175-6C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122243018C>T	(Likely) benign	2 labs	974a91f140
6:139694500 CITED2 G>A	6	139694500	139694500	G	A	CITED2	c.582C>T	NM_006079.5	NP_006070.2:p.(Gly194=)	NC_000006.11:g.139694500G>A	(Likely) benign	2 labs	282acddfbe
17:41244886 BRCA1 G>A	17	41244886	41244886	G	A	BRCA1	c.2662C>T	NM_007294.4	NP_009225.1:p.(His888Tyr)	NC_000017.10:g.41244886G>A	(Likely) benign	2 labs	97c1df4778
14:23883022 MYH7 G>A	14	23883022	23883022	G	A	MYH7	c.5736C>T	NM_000257.4	NP_000248.2:p.(Ile1912=)	NC_000014.8:g.23883022G>A	(Likely) benign	4 labs	266f9005f6
19:11226873 LDLR A>C	19	11226873	11226873	A	C	LDLR	c.1690A>C	NM_000527.5	NP_000518.1:p.(Asn564His)	NC_000019.9:g.11226873A>C	(Likely) pathogenic	3 labs	267415a9d1
5:37182902 CPLANE1 G>A	5	37182902	37182902	G	A	CPLANE1	c.5381C>T	NM_023073.4	NP_075561.3:p.(Pro1794Leu)	NC_000005.9:g.37182902G>A	(Likely) benign	2 labs	26823f5cf1
19:11327571 DOCK6 C>T	19	11327571	11327571	C	T	DOCK6	c.3894+19G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11327571C>T	(Likely) benign	2 labs	26828a2e59
2:179612201 TTN T>A	2	179612201	179612201	T	A	TTN	c.14926A>T	NM_133379.5	NP_596870.2:p.(Thr4976Ser)	NC_000002.11:g.179612201T>A	VUS	2 labs	2684f0c1ca
12:6125715 VWF C>T	12	6125715	6125715	C	T	VWF	c.5278G>A	NM_000552.4	NP_000543.2:p.(Val1760Ile)	NC_000012.11:g.6125715C>T	(Likely) benign	3 labs	282fe81d12
X:32486815 DMD A>G	X	32486815	32486815	A	G	DMD	c.2962T>C	NM_004006.3	NP_003997.2:p.(Ser988Pro)	NC_000023.10:g.32486815A>G	VUS	2 labs	982abcab08
6:33144243 COL11A2 T>A	6	33144243	33144243	T	A	COL11A2	c.2136A>T	NM_080680.3	NP_542411.2:p.(Gly712=)	NC_000006.11:g.33144243T>A	(Likely) benign	4 labs	268c091ada
16:88789687 PIEZO1 C>T	16	88789687	88789687	C	T	PIEZO1	c.4385G>A	NM_001142864.4	NP_001136336.2:p.(Arg1462Gln)	NC_000016.9:g.88789687C>T	(Likely) benign	2 labs	9859af3abc
17:78178893 CARD14 C>T	17	78178893	78178893	C	T	CARD14	c.2458C>T	NM_024110.4	NP_077015.2:p.(Arg820Trp)	NC_000017.10:g.78178893C>T	(Likely) benign	3 labs	2694d8d119
4:6293096 WFS1 T>G	4	6293096	6293096	T	G	WFS1	c.631+2T>G	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293096T>G	(Likely) pathogenic	2 labs	98b9f7ae26
4:6303248 WFS1 G>A	4	6303248	6303248	G	A	WFS1	c.1726G>A	NM_006005.3	NP_005996.2:p.(Gly576Ser)	NC_000004.11:g.6303248G>A	(Likely) benign	2 labs	98fabb3a94
17:33444042 RAD51D G>A	17	33444042	33444042	G	A	RAD51D	c.263+1478C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33444042G>A	(Likely) benign	3 labs	98fe4b3f36
6:30887868 VARS2 G>A	6	30887868	30887868	G	A	VARS2	c.1168G>A	NM_020442.6	NP_065175.4:p.(Ala390Thr)	NC_000006.11:g.30887868G>A	(Likely) pathogenic	2 labs	9926531223
2:143790838 KYNU G>A	2	143790838	143790838	G	A	KYNU	c.989G>A	NM_003937.3	NP_003928.1:p.(Arg330Gln)	NC_000002.11:g.143790838G>A	(Likely) pathogenic	2 labs	997adad50c
11:27680005 BDNF C>T	11	27680005	27680005	C	T	BDNF	c.107G>A	NM_170735.6	NP_733931.1:p.(Gly36Asp)	NC_000011.9:g.27680005C>T	VUS	2 labs	26a8eb752e
5:147481363 SPINK5 G>A	5	147481363	147481363	G	A	SPINK5	c.1322G>A	NM_001127698.2	NP_001121170.1:p.(Arg441His)	NC_000005.9:g.147481363G>A	(Likely) benign	3 labs	26af2475cf
18:67802501 RTTN T>C	18	67802501	67802501	T	C	RTTN	c.2804A>G	NM_173630.4	NP_775901.3:p.(His935Arg)	NC_000018.9:g.67802501T>C	VUS	4 labs	26beeb71c0
14:23900799 MYH7 G>A	14	23900799	23900799	G	A	MYH7	c.727C>T	NM_000257.2	NP_000248.2:p.(Arg243Cys)	NC_000014.8:g.23900799G>A	(Likely) pathogenic	2 labs	285447348a
13:32906915 BRCA2 AAAAG>A	13	32906915	32906928	AAAAG	A	BRCA2	c.1310_1313del	NM_000059.4	NP_000050.3:p.(Lys437IlefsTer22)	NC_000013.10:g.32906925_32906928del	(Likely) pathogenic	4 labs	26c4945c52
7:151272001 PRKAG2 T>C	7	151272001	151272001	T	C	PRKAG2	c.981A>G	NM_016203.4	NP_057287.2:p.(Leu327=)	NC_000007.13:g.151272001T>C	(Likely) benign	3 labs	26cb05d128
16:23646520 PALB2 T>C	16	23646520	23646520	T	C	PALB2	c.1347A>G	NM_024675.4	NP_078951.2:p.(Lys449=)	NC_000016.9:g.23646520T>C	(Likely) benign	2 labs	9b1bd7a634
6:39846016 DAAM2 C>G	6	39846016	39846016	C	G	DAAM2	c.1339C>G	NM_001201427.2	NP_001188356.1:p.(Gln447Glu)	NC_000006.11:g.39846016C>G	(Likely) benign	2 labs	2867226c73
18:58038892 MC4R C>T	18	58038892	58038892	C	T	MC4R	c.691G>A	NM_005912.3	NP_005903.2:p.(Gly231Ser)	NC_000018.9:g.58038892C>T	VUS	2 labs	9b6bdbd031
18:34310668 FHOD3 C>T	18	34310668	34310668	C	T	FHOD3	c.2952C>T	NM_025135.5	NP_079411.2:p.(Asn984=)	NC_000018.9:g.34310668C>T	(Likely) benign	2 labs	26dccb829d
11:108164152 ATM G>A	11	108164152	108164152	G	A	ATM	c.4724G>A	NM_000051.4	NP_000042.3:p.(Arg1575His)	NC_000011.9:g.108164152G>A	VUS	4 labs	26de295ab7
5:7870973 MTRR A>G	5	7870973	7870973	A	G	MTRR	c.66A>G	NM_002454.3	NP_002445.2:p.(Ile22Met)	NC_000005.9:g.7870973A>G	(Likely) benign	2 labs	26e1667eeb
16:2158681 PKD1 G>A	16	2158681	2158681	G	A	PKD1	c.6487C>T	NM_001009944.3	NP_001009944.3:p.(Arg2163Ter)	NC_000016.9:g.2158681G>A	(Likely) pathogenic	2 labs	9bda95a17f
12:39735348 KIF21A C>A	12	39735348	39735348	C	A	KIF21A	c.1880G>T	NM_001173464.2	NP_001166935.1:p.(Gly627Val)	NC_000012.11:g.39735348C>A	(Likely) benign	2 labs	2876d008b5
4:126400922 FAT4 C>T	4	126400922	126400922	C	T	FAT4				NC_000004.11:g.126400922C>T	(Likely) benign	2 labs	9bf9b34239
2:238269763 COL6A3 C>A	2	238269763	238269763	C	A	COL6A3	c.6210+1G>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238269763C>A	(Likely) pathogenic	2 labs	9c1097697b
9:136412170 ADAMTSL2 C>T	9	136412170	136412170	C	T	ADAMTSL2	c.774C>T	NM_001145320.2	NP_001138792.1:p.(Asp258=)	NC_000009.11:g.136412170C>T	(Likely) benign	3 labs	26fa7e2a22
12:48368039 COL2A1 C>T	12	48368039	48368039	C	T	COL2A1	c.4150G>A	NM_001844.5	NP_001835.3:p.(Glu1384Lys)	NC_000012.11:g.48368039C>T	VUS	2 labs	9c8274d7b1
15:42701566 CAPN3 GA>G	15	42701566	42701567	GA	G	CAPN3	c.1981del	NM_000070.3	NP_000061.1:p.(Ile661Ter)	NC_000015.9:g.42701567del	(Likely) pathogenic	2 labs	9ccb723248
14:51094872 ATL1 C>T	14	51094872	51094872	C	T	ATL1	c.1243C>T	NM_015915.5	NP_056999.2:p.(Arg415Trp)	NC_000014.8:g.51094872C>T	(Likely) pathogenic	2 labs	9ce070c21f
11:75279846 SERPINH1 C>T	11	75279846	75279846	C	T	SERPINH1	c.693C>T	NM_001207014.3	NP_001193943.1:p.(Thr231=)	NC_000011.9:g.75279846C>T	(Likely) benign	2 labs	2707dfc391
2:189875421 COL3A1 T>G	2	189875421	189875421	T	G	COL3A1	c.4059T>G	NM_000090.4	NP_000081.2:p.(His1353Gln)	NC_000002.11:g.189875421T>G	(Likely) benign	2 labs	2708a33976
7:35288276 TBX20 T>C	7	35288276	35288276	T	C	TBX20	c.545+13A>G	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35288276T>C	(Likely) benign	3 labs	270d9451c0
3:184073274 CLCN2 G>A	3	184073274	184073274	G	A	CLCN2	c.1214C>T	NM_004366.6	NP_004357.3:p.(Thr405Met)	NC_000003.11:g.184073274G>A	VUS	3 labs	27210c83ac
3:46622629 CRIPTO T>C	3	46622629	46622629	T	C	CRIPTO	c.456T>C	NM_003212.4	NP_003203.1:p.(Leu152=)	NC_000003.11:g.46622629T>C	(Likely) benign	2 labs	9db5f5e097
5:35861024 IL7R G>A	5	35861024	35861024	G	A	IL7R				NC_000005.9:g.35861024G>A	(Likely) benign	2 labs	289cefec77
15:42679961 CAPN3 A>G	15	42679961	42679961	A	G	CAPN3	c.509A>G	NM_000070.3	NP_000061.1:p.(Tyr170Cys)	NC_000015.9:g.42679961A>G	(Likely) pathogenic	2 labs	9e3dc141e5
3:64507921 ADAMTS9 C>T	3	64507921	64507921	C	T	ADAMTS9	c.5734G>A	NM_182920.2	NP_891550.1:p.(Val1912Ile)	NC_000003.11:g.64507921C>T	(Likely) benign	2 labs	28b3ba149c
15:89385047 ACAN C>T	15	89385047	89385047	C	T	ACAN	c.706C>T	NM_001369268.1	NP_001356197.1:p.(Arg236Ter)	NC_000015.9:g.89385047C>T	(Likely) pathogenic	2 labs	9e62203230
20:52774096 CYP24A1 A>C	20	52774096	52774096	A	C	CYP24A1	c.1265T>G	NM_000782.5	NP_000773.2:p.(Leu422Trp)	NC_000020.10:g.52774096A>C	VUS	2 labs	9e709605fd
4:88929173 PKD2 C>CGAG	4	88929173	88929192	C	CGAG	PKD2	c.305_307dup	NM_000297.4	NP_000288.1:p.(Glu102dup)	NC_000004.11:g.88929190_88929192dup	(Likely) benign	2 labs	28b73d6fca
20:18505624 SEC23B C>T	20	18505624	18505624	C	T	SEC23B	c.649C>T	NM_006363.6	NP_006354.2:p.(Arg217Ter)	NC_000020.10:g.18505624C>T	(Likely) pathogenic	2 labs	9e9fdbe5a4
7:106938638 COG5 T>C	7	106938638	106938638	T	C	COG5	c.1262A>G	NM_001161520.2	NP_001154992.2:p.(His421Arg)	NC_000007.13:g.106938638T>C	(Likely) benign	2 labs	9ebaac463b
12:49437532 KMT2D T>C	12	49437532	49437532	T	C	KMT2D	c.5353A>G	NM_003482.4	NP_003473.3:p.(Ser1785Gly)	NC_000012.11:g.49437532T>C	VUS	2 labs	9ee867fc2a
10:92678938 ANKRD1 A>AT	10	92678938	92678944	A	AT	ANKRD1	c.294dup	NM_014391.3	NP_055206.2:p.(Tyr99IlefsTer5)	NC_000010.10:g.92678944dup	VUS	2 labs	27366e8665
7:6035259 PMS2 G>C	7	6035259	6035259	G	C	PMS2	c.809C>G	NM_000535.7	NP_000526.2:p.(Ser270Ter)	NC_000007.13:g.6035259G>C	(Likely) pathogenic	2 labs	9f10f73c2d
10:12136132 DHTKD1 G>A	10	12136132	12136132	G	A	DHTKD1	c.1220G>A	NM_018706.7	NP_061176.4:p.(Arg407His)	NC_000010.10:g.12136132G>A	VUS	3 labs	2739936b78
1:247587658 NLRP3 G>A	1	247587658	247587658	G	A	NLRP3	c.913G>A	NM_004895.5	NP_004886.3:p.(Asp305Asn)	NC_000001.10:g.247587658G>A	(Likely) pathogenic	3 labs	27418b00b3
17:1639000 WDR81 C>T	17	1639000	1639000	C	T	WDR81	c.5314C>T	NM_001163809.2	NP_001157281.1:p.(Pro1772Ser)	NC_000017.10:g.1639000C>T	VUS	2 labs	9faddf2d8e
2:21229221 APOB G>A	2	21229221	21229221	G	A	APOB	c.10519C>T	NM_000384.3	NP_000375.3:p.(Arg3507Trp)	NC_000002.11:g.21229221G>A	VUS	2 labs	9fbb909350
2:179481618 TTN C>G	2	179481618	179481618	C	G	TTN	c.47998G>C	NM_001267550.2	NP_001254479.2:p.(Asp16000His)	NC_000002.11:g.179481618C>G	(Likely) benign	3 labs	274333350d
2:166866309 SCN1A C>T	2	166866309	166866309	C	T	SCN1A	c.3922G>A	NM_001165963.4	NP_001159435.1:p.(Glu1308Lys)	NC_000002.11:g.166866309C>T	VUS	2 labs	9fdfa25fe4
2:170344314 BBS5 A>G	2	170344314	170344314	A	G	BBS5	c.209-2A>G	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170344314A>G	(Likely) pathogenic	5 labs	274d915c0c
9:34648350 GALT T>C	9	34648350	34648350	T	C	GALT	c.584T>C	NM_000155.4	NP_000146.2:p.(Leu195Pro)	NC_000009.11:g.34648350T>C	(Likely) pathogenic	2 labs	9ffd3a80c2
1:43212431 P3H1 A>G	1	43212431	43212431	A	G	P3H1	c.2148=	NM_022356.4	NP_071751.3:p.(Gly716=)	NC_000001.10:g.43212431A>G	(Likely) benign	2 labs	275185f1c0
5:127666312 FBN2 C>T	5	127666312	127666312	C	T	FBN2	c.4298G>A	NM_001999.4	NP_001990.2:p.(Arg1433His)	NC_000005.9:g.127666312C>T	(Likely) benign	2 labs	a0a1c2bb67
4:5755529 EVC A>C	4	5755529	5755529	A	C	EVC	c.1333A>C	NM_153717.3	NP_714928.1:p.(Lys445Gln)	NC_000004.11:g.5755529A>C	(Likely) benign	2 labs	28e4d2703f
14:102509068 DYNC1H1 G>A	14	102509068	102509068	G	A	DYNC1H1	c.12496G>A	NM_001376.5	NP_001367.2:p.(Val4166Ile)	NC_000014.8:g.102509068G>A	(Likely) benign	2 labs	a0bec8d198
6:139694540 CITED2 C>G	6	139694540	139694540	C	G	CITED2	c.542G>C	NM_006079.5	NP_006070.2:p.(Ser181Thr)	NC_000006.11:g.139694540C>G	(Likely) benign	2 labs	275d8137f1
14:51096713 ATL1 G>A	14	51096713	51096713	G	A	ATL1	c.1552G>A	NM_015915.5	NP_056999.2:p.(Gly518Arg)	NC_000014.8:g.51096713G>A	VUS	2 labs	275e646243
2:228118867 COL4A3 G>A	2	228118867	228118867	G	A	COL4A3	c.805G>A	NM_000091.5	NP_000082.2:p.(Glu269Lys)	NC_000002.11:g.228118867G>A	(Likely) benign	2 labs	a0f27598ce
1:21894735 ALPL T>C	1	21894735	21894735	T	C	ALPL	c.787T>C	NM_000478.6	NP_000469.3:p.(Tyr263His)	NC_000001.10:g.21894735T>C	(Likely) benign	3 labs	275fe78e0f
10:15648405 ITGA8 C>T	10	15648405	15648405	C	T	ITGA8	c.1781G>A	NM_003638.3	NP_003629.2:p.(Arg594Gln)	NC_000010.10:g.15648405C>T	VUS	2 labs	a1a58c88a0
12:114837326 TBX5 A>G	12	114837326	114837326	A	G	TBX5	c.354T>C	NM_181486.4	NP_852259.1:p.(Asp118=)	NC_000012.11:g.114837326A>G	(Likely) benign	2 labs	a1dafb1b67
1:94506878 ABCA4 T>C	1	94506878	94506878	T	C	ABCA4	c.3409A>G	NM_000350.3	NP_000341.2:p.(Arg1137Gly)	NC_000001.10:g.94506878T>C	VUS	2 labs	a1f21ee020
2:179428171 TTN C>T	2	179428171	179428171	C	T	TTN	c.55868G>A	NM_133432.3	NP_597676.3:p.(Arg18623His)	NC_000002.11:g.179428171C>T	(Likely) benign	2 labs	28fcef120a
17:14095309 COX10 A>G	17	14095309	14095309	A	G	COX10	c.699A>G	NM_001303.4	NP_001294.2:p.(Pro233=)	NC_000017.10:g.14095309A>G	(Likely) benign	2 labs	2784a0d4bd
6:132201076 ENPP1 G>A	6	132201076	132201076	G	A	ENPP1	c.2002G>A	NM_006208.3	NP_006199.2:p.(Glu668Lys)	NC_000006.11:g.132201076G>A	(Likely) benign	2 labs	32f0c4416a
17:29527726 NF1 A>G	17	29527726	29527726	A	G	NF1	c.1062+113A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29527726A>G	VUS	2 labs	a28b4e4875
13:39430314 FREM2 C>T	13	39430314	39430314	C	T	FREM2	c.6977C>T	NM_207361.6	NP_997244.4:p.(Thr2326Ile)	NC_000013.10:g.39430314C>T	(Likely) benign	2 labs	279cfa41d5
1:100340360 AGL C>T	1	100340360	100340360	C	T	AGL	c.1076C>T	NM_000642.3	NP_000633.2:p.(Pro359Leu)	NC_000001.10:g.100340360C>T	VUS	2 labs	a2abbfdd50
17:33428250 RAD51D G>A	17	33428250	33428250	G	A	RAD51D	c.873C>T	NM_002878.4	NP_002869.3:p.(Arg291=)	NC_000017.10:g.33428250G>A	(Likely) benign	3 labs	a2b6a95a20
11:108175585 ATM C>G	11	108175585	108175585	C	G	ATM	c.5674+6C>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108175585C>G	(Likely) benign	2 labs	a3008faab2
2:27708298 IFT172 G>A	2	27708298	27708298	G	A	IFT172	c.112C>T	NM_015662.3	NP_056477.1:p.(Arg38Ter)	NC_000002.11:g.27708298G>A	(Likely) pathogenic	2 labs	a34bf4d594
13:92380829 GPC5 G>A	13	92380829	92380829	G	A	GPC5	c.1064G>A	NM_004466.6	NP_004457.1:p.(Ser355Asn)	NC_000013.10:g.92380829G>A	(Likely) benign	2 labs	29143080f1
16:89346883 ANKRD11 C>G	16	89346883	89346883	C	G	ANKRD11	c.6067G>C	NM_013275.6	NP_037407.4:p.(Ala2023Pro)	NC_000016.9:g.89346883C>G	(Likely) benign	2 labs	a3f385f69c
2:179467271 TTN CT>C	2	179467271	179467273	CT	C	TTN	c.54857del	NM_001267550.2	NP_001254479.2:p.(Lys18286SerfsTer6)	NC_000002.11:g.179467273del	(Likely) pathogenic	2 labs	27afa6b88b
17:41245699 BRCA1 TAGA>T	17	41245699	41245705	TAGA	T	BRCA1	c.1846_1848del	NM_007294.4	NP_009225.1:p.(Ser616del)	NC_000017.10:g.41245703_41245705del	(Likely) benign	2 labs	27b04f2def
2:220432957 OBSL1 G>A	2	220432957	220432957	G	A	OBSL1	c.1102C>T	NM_015311.3	NP_056126.1:p.(Arg368Cys)	NC_000002.11:g.220432957G>A	(Likely) benign	2 labs	a43f1c0bf2
3:100467018 TFG T>C	3	100467018	100467018	T	C	TFG	c.846T>C	NM_006070.6	NP_006061.2:p.(Pro282=)	NC_000003.11:g.100467018T>C	(Likely) benign	2 labs	27b33fcf9b
20:31023028 ASXL1 A>G	20	31023028	31023028	A	G	ASXL1	c.2513A>G	NM_015338.6	NP_056153.2:p.(Lys838Arg)	NC_000020.10:g.31023028A>G	(Likely) benign	2 labs	a48ee3ecc9
7:31003712 GHRHR T>G	7	31003712	31003712	T	G	GHRHR	c.29T>G	NM_000823.4	NP_000814.2:p.(Val10Gly)	NC_000007.13:g.31003712T>G	VUS	2 labs	a4e6435666
10:30728101 MAP3K8 T>C	10	30728101	30728101	T	C	MAP3K8	c.234T>C	NM_005204.4	NP_005195.2:p.(Tyr78=)	NC_000010.10:g.30728101T>C	(Likely) benign	2 labs	27d252fb19
9:14801687 FREM1 T>C	9	14801687	14801687	T	C	FREM1	c.3657A>G	NM_144966.7	NP_659403.4:p.(Ala1219=)	NC_000009.11:g.14801687T>C	(Likely) benign	2 labs	27e8cbf986
11:111965630 SDHD T>C	11	111965630	111965630	T	C	SDHD	c.416T>C	NM_003002.4	NP_002993.1:p.(Leu139Pro)	NC_000011.9:g.111965630T>C	(Likely) pathogenic	4 labs	27ea8e9ded
11:108115663 ATM C>A	11	108115663	108115663	C	A	ATM	c.811C>A	NM_000051.4	NP_000042.3:p.(Leu271Ile)	NC_000011.9:g.108115663C>A	(Likely) benign	3 labs	a5f83c5f24
3:37045960 MLH1 A>G	3	37045960	37045960	A	G	MLH1	c.375A>G	NM_000249.4	NP_000240.1:p.(Ala125=)	NC_000003.11:g.37045960A>G	(Likely) benign	2 labs	a60bf68963
X:153594712 FLNA C>A	X	153594712	153594712	C	A	FLNA	c.1192G>T	NM_001456.4	NP_001447.2:p.(Ala398Ser)	NC_000023.10:g.153594712C>A	VUS	2 labs	27f19ca769
22:51117733 SHANK3 C>G	22	51117733	51117733	C	G	SHANK3	c.994-7C>G	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117733C>G	(Likely) benign	2 labs	a6ea615be5
14:51058343 ATL1 A>G	14	51058343	51058343	A	G	ATL1	c.508A>G	NM_015915.5	NP_056999.2:p.(Ile170Val)	NC_000014.8:g.51058343A>G	VUS	2 labs	a6f6d0a3b7
16:2156600 PKD1 G>A	16	2156600	2156600	G	A	PKD1	c.7288C>T	NM_001009944.3	NP_001009944.3:p.(Arg2430Ter)	NC_000016.9:g.2156600G>A	(Likely) pathogenic	2 labs	a6fdec9f04
15:89870416 POLG T>G	15	89870416	89870416	T	G	POLG	c.1415A>C	NM_002693.3	NP_002684.1:p.(Gln472Pro)	NC_000015.9:g.89870416T>G	VUS	2 labs	a716f0b818
13:32912337 BRCA2 CTG>C	13	32912337	32912340	CTG	C	BRCA2	c.3847_3848del	NM_000059.4	NP_000050.3:p.(Val1283LysfsTer2)	NC_000013.10:g.32912339_32912340del	(Likely) pathogenic	5 labs	281cdb6ea2
X:71876032 PHKA1 C>G	X	71876032	71876032	C	G	PHKA1	c.979G>C	NM_002637.4	NP_002628.2:p.(Glu327Gln)	NC_000023.10:g.71876032C>G	VUS	2 labs	a74c49a171
2:179413523 TTN G>A	2	179413523	179413523	G	A	TTN	c.92830C>T	NM_001267550.2	NP_001254479.2:p.(Arg30944Cys)	NC_000002.11:g.179413523G>A	VUS	2 labs	a76c4689cc
14:68250112 ZFYVE26 G>A	14	68250112	68250112	G	A	ZFYVE26	c.3757C>T	NM_015346.4	NP_056161.2:p.(Leu1253=)	NC_000014.8:g.68250112G>A	(Likely) benign	2 labs	a77da9ce82
7:69364299 AUTS2 C>T	7	69364299	69364299	C	T	AUTS2	c.337C>T	NM_001127231.3	NP_001120703.1:p.(Arg113Cys)	NC_000007.13:g.69364299C>T	VUS	2 labs	a7b428b179
16:2140460 PKD1 G>C	16	2140460	2140460	G	C	PKD1	c.12270C>G	NM_001009944.3	NP_001009944.3:p.(Leu4090=)	NC_000016.9:g.2140460G>C	(Likely) benign	2 labs	a7c6a16bea
2:179462440 TTN G>A	2	179462440	179462440	G	A	TTN	c.57369C>T	NM_001267550.2	NP_001254479.2:p.(Thr19123=)	NC_000002.11:g.179462440G>A	(Likely) benign	3 labs	28293a64b2
17:63533904 AXIN2 G>A	17	63533904	63533904	G	A	AXIN2	c.1250C>T	NM_004655.3	NP_004646.3:p.(Ala417Val)	NC_000017.10:g.63533904G>A	(Likely) benign	2 labs	299a7e6bc5
2:179440182 TTN A>G	2	179440182	179440182	A	G	TTN	c.70677T>C	NM_001267550.2	NP_001254479.2:p.(Asp23559=)	NC_000002.11:g.179440182A>G	(Likely) benign	6 labs	282c16792e
1:223179293 DISP1 TTTG>T	1	223179293	223179298	TTTG	T	DISP1	c.4557_4559del	NM_001377229.1	NP_001364158.1:p.(Leu1520del)	NC_000001.10:g.223179296_223179298del	VUS	2 labs	a8aef4f9fb
12:9020489 A2ML1 A>G	12	9020489	9020489	A	G	A2ML1	c.3769A>G	NM_144670.6	NP_653271.3:p.(Met1257Val)	NC_000012.11:g.9020489A>G	(Likely) benign	2 labs	282f2c605e
2:241659323 KIF1A C>T	2	241659323	241659323	C	T	KIF1A	c.4889G>A	NM_001244008.2	NP_001230937.1:p.(Arg1630Gln)	NC_000002.11:g.241659323C>T	(Likely) benign	3 labs	283439f97c
7:47955049 PKD1L1 A>G	7	47955049	47955049	A	G	PKD1L1	c.1208T>C	NM_138295.5	NP_612152.1:p.(Leu403Pro)	NC_000007.13:g.47955049A>G	(Likely) benign	2 labs	a8f39d4526
17:73750847 ITGB4 G>A	17	73750847	73750847	G	A	ITGB4	c.4509G>A	NM_000213.5	NP_000204.3:p.(Ser1503=)	NC_000017.10:g.73750847G>A	(Likely) benign	2 labs	2836b472e5
19:15298126 NOTCH3 G>A	19	15298126	15298126	G	A	NOTCH3	c.1630C>T	NM_000435.3	NP_000426.2:p.(Arg544Cys)	NC_000019.9:g.15298126G>A	(Likely) pathogenic	2 labs	a9439d8119
17:73944496 ACOX1 G>A	17	73944496	73944496	G	A	ACOX1	c.1771C>T	NM_004035.7	NP_004026.2:p.(Arg591Cys)	NC_000017.10:g.73944496G>A	(Likely) benign	2 labs	a94a931410
19:41920030 BCKDHA C>T	19	41920030	41920030	C	T	BCKDHA	c.452C>T	NM_000709.4	NP_000700.1:p.(Thr151Met)	NC_000019.9:g.41920030C>T	(Likely) benign	2 labs	29c3777c32
1:152283742 FLG G>T	1	152283742	152283742	G	T	FLG	c.3620C>A	NM_002016.2	NP_002007.1:p.(Ser1207Tyr)	NC_000001.10:g.152283742G>T	(Likely) benign	2 labs	aadc0fcd4f
3:37050303 MLH1 A>G	3	37050303	37050303	A	G	MLH1	c.454-2A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37050303A>G	(Likely) pathogenic	2 labs	aaedef1dad
2:179401914 TTN C>T	2	179401914	179401914	C	T	TTN	c.99922G>A	NM_001267550.2	NP_001254479.2:p.(Ala33308Thr)	NC_000002.11:g.179401914C>T	VUS	2 labs	ab1a91e9d5
17:7751858 KDM6B TCACCACCAC>T	17	7751858	7751891	TCACCACCAC	T	KDM6B	c.2277_2285del	NM_001080424.2	NP_001073893.1:p.(Thr760_Thr762del)	NC_000017.10:g.7751883_7751891del	(Likely) benign	2 labs	286159106e
12:21919425 KCNJ8 G>A	12	21919425	21919425	G	A	KCNJ8	c.507C>T	NM_004982.4	NP_004973.1:p.(Ile169=)	NC_000012.11:g.21919425G>A	(Likely) benign	2 labs	29ff831aad
7:128498449 FLNC G>A	7	128498449	128498449	G	A	FLNC	c.8050G>A	NM_001458.5	NP_001449.3:p.(Val2684Met)	NC_000007.13:g.128498449G>A	VUS	2 labs	ab350844fa
1:16056415 PLEKHM2 G>A	1	16056415	16056415	G	A	PLEKHM2	c.2199G>A	NM_015164.4	NP_055979.2:p.(Ser733=)	NC_000001.10:g.16056415G>A	(Likely) benign	2 labs	29ff902644
1:103381215 COL11A1 G>A	1	103381215	103381215	G	A	COL11A1	c.3788C>T	NM_001854.4	NP_001845.3:p.(Pro1263Leu)	NC_000001.10:g.103381215G>A	VUS	2 labs	ab53045ee1
10:92679041 ANKRD1 G>A	10	92679041	92679041	G	A	ANKRD1	c.208-16C>T	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92679041G>A	(Likely) benign	4 labs	2861b4e349
2:179451454 TTN G>A	2	179451454	179451454	G	A	TTN	c.64174C>T	NM_001267550.2	NP_001254479.2:p.(Arg21392Cys)	NC_000002.11:g.179451454G>A	(Likely) benign	5 labs	2863c8a231
9:14775853 FREM1 A>G	9	14775853	14775853	A	G	FREM1	c.4791T>C	NM_144966.7	NP_659403.4:p.(Asp1597=)	NC_000009.11:g.14775853A>G	(Likely) benign	2 labs	286a012d26
11:71202902 NADSYN1 G>A	11	71202902	71202902	G	A	NADSYN1	c.1717G>A	NM_018161.5	NP_060631.2:p.(Ala573Thr)	NC_000011.9:g.71202902G>A	(Likely) pathogenic	3 labs	286b73ee41
14:23887458 MYH7 G>A	14	23887458	23887458	G	A	MYH7	c.4130C>T	NM_000257.4	NP_000248.2:p.(Thr1377Met)	NC_000014.8:g.23887458G>A	(Likely) pathogenic	4 labs	286ff47d10
16:2159795 PKD1 G>A	16	2159795	2159795	G	A	PKD1	c.5373C>T	NM_001009944.2	NP_001009944.2:p.(Asn1791=)	NC_000016.9:g.2159795G>A	(Likely) benign	2 labs	2a1dca2909
1:161310406 SDHC T>C	1	161310406	161310406	T	C	SDHC	c.202T>C	NM_003001.5	NP_002992.1:p.(Ser68Pro)	NC_000001.10:g.161310406T>C	(Likely) pathogenic	2 labs	ac8ed7b2c8
8:143996503 CYP11B2 G>A	8	143996503	143996503	G	A	CYP11B2	c.554C>T	NM_000498.3	NP_000489.3:p.(Thr185Ile)	NC_000008.10:g.143996503G>A	(Likely) pathogenic	2 labs	2a291b9749
14:21771701 RPGRIP1 C>T	14	21771701	21771701	C	T	RPGRIP1	c.799C>T	NM_020366.4	NP_065099.3:p.(Arg267Ter)	NC_000014.8:g.21771701C>T	(Likely) pathogenic	2 labs	acd0eddbab
8:97157512 GDF6 T>C	8	97157512	97157512	T	C	GDF6	c.647A>G	NM_001001557.4	NP_001001557.1:p.(Asp216Gly)	NC_000008.10:g.97157512T>C	VUS	2 labs	ad5b147f4e
5:231021 SDHA G>A	5	231021	231021	G	A	SDHA	c.801G>A	NM_004168.4	NP_004159.2:p.(Thr267=)	NC_000005.9:g.231021G>A	(Likely) benign	2 labs	ad77de001a
9:12694274 TYRP1 G>A	9	12694274	12694274	G	A	TYRP1	c.278G>A	NM_000550.3	NP_000541.1:p.(Arg93His)	NC_000009.11:g.12694274G>A	(Likely) benign	2 labs	ad7ae427d9
19:47349360 AP2S1 G>A	19	47349360	47349360	G	A	AP2S1				NC_000019.9:g.47349360G>A	(Likely) pathogenic	3 labs	2a37616317
2:238287862 COL6A3 C>T	2	238287862	238287862	C	T	COL6A3	c.1914G>A	NM_004369.4	NP_004360.2:p.(Arg638=)	NC_000002.11:g.238287862C>T	(Likely) benign	2 labs	ada32f4c15
1:145415273 HJV C>G	1	145415273	145415273	C	G	HJV	c.98-6C>G	NM_213653.4	NP_998818.1:p.?	NC_000001.10:g.145415273C>G	(Likely) benign	2 labs	ade982213c
6:70964670 COL9A1 G>T	6	70964670	70964670	G	T	COL9A1	c.1661C>A	NM_001851.6	NP_001842.3:p.(Thr554Lys)	NC_000006.11:g.70964670G>T	VUS	2 labs	ae0e477d5c
6:51720887 PKHD1 G>GAA	6	51720887	51720895	G	GAA	PKHD1	c.7734-21_7734-20dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51720894_51720895dup	(Likely) benign	2 labs	2a5119e647
4:3534019 LRPAP1 G>A	4	3534019	3534019	G	A	LRPAP1	c.121C>T	NM_002337.4	NP_002328.1:p.(Gln41Ter)	NC_000004.11:g.3534019G>A	(Likely) pathogenic	2 labs	ae42747bd3
11:108106579 ATM T>C	11	108106579	108106579	T	C	ATM	c.496+18T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108106579T>C	(Likely) benign	2 labs	ae4bb7476b
3:37089122 MLH1 TGAA>T	3	37089122	37089132	TGAA	T	MLH1	c.1852_1854del	NM_000249.4	NP_000240.1:p.(Lys618del)	NC_000003.11:g.37089130_37089132del	(Likely) pathogenic	4 labs	28962827b1
3:71021784 FOXP1 C>T	3	71021784	71021784	C	T	FOXP1	c.1574G>A	NM_001349338.3	NP_001336267.1:p.(Arg525Gln)	NC_000003.11:g.71021784C>T	(Likely) pathogenic	2 labs	ae8a7e7227
8:11615782 GATA4 G>A	8	11615782	11615782	G	A	GATA4	c.1150-20G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11615782G>A	(Likely) benign	2 labs	aeb00a3544
18:72999205 TSHZ1 G>A	18	72999205	72999205	G	A	TSHZ1	c.1843G>A	NM_001308210.2	NP_001295139.1:p.(Ala615Thr)	NC_000018.9:g.72999205G>A	(Likely) benign	2 labs	aec8042b37
X:38156655 RPGR T>A	X	38156655	38156655	T	A	RPGR	c.1296A>T	NM_001034853.2	NP_001030025.1:p.(Glu432Asp)	NC_000023.10:g.38156655T>A	(Likely) benign	2 labs	aedd30d8d4
15:89401355 ACAN G>T	15	89401355	89401355	G	T	ACAN	c.5539G>T	NM_001369268.1	NP_001356197.1:p.(Glu1847Ter)	NC_000015.9:g.89401355G>T	(Likely) pathogenic	2 labs	af0bd24b17
7:83631273 SEMA3A G>A	7	83631273	83631273	G	A	SEMA3A	c.1450C>T	NM_006080.3	NP_006071.1:p.(Arg484Trp)	NC_000007.13:g.83631273G>A	VUS	2 labs	af2641ee2b
10:75834566 VCL C>T	10	75834566	75834566	C	T	VCL	c.688C>T	NM_014000.3	NP_054706.1:p.(Arg230Cys)	NC_000010.10:g.75834566C>T	VUS	3 labs	28b376e491
2:21249657 APOB C>T	2	21249657	21249657	C	T	APOB	c.2244+3G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21249657C>T	(Likely) benign	2 labs	28b55b5cb0
22:38165269 TRIOBP G>A	22	38165269	38165269	G	A	TRIOBP	c.6736G>A	NM_001039141.3	NP_001034230.1:p.(Glu2246Lys)	NC_000022.10:g.38165269G>A	(Likely) benign	2 labs	af7ea6f16e
2:113875584 IL1RN G>C	2	113875584	113875584	G	C	IL1RN	c.-231G>C	NM_173843.3	NP_776215.1:p.?	NC_000002.11:g.113875584G>C	(Likely) benign	2 labs	28b834e132
11:108151706 ATM T>TA	11	108151706	108151707	T	TA	ATM	c.3403-16_3403-15insA	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151706_108151707insA	(Likely) benign	2 labs	b04b8b5091
1:120479948 NOTCH2 T>C	1	120479948	120479948	T	C	NOTCH2	c.3479A>G	NM_024408.4	NP_077719.2:p.(His1160Arg)	NC_000001.10:g.120479948T>C	(Likely) benign	3 labs	28c60f6adf
2:220342503 SPEG G>A	2	220342503	220342503	G	A	SPEG	c.4822G>A	NM_005876.5	NP_005867.3:p.(Gly1608Ser)	NC_000002.11:g.220342503G>A	VUS	2 labs	b065e8671c
11:47361164 MYBPC3 T>A	11	47361164	47361164	T	A	MYBPC3	c.2067+38A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361164T>A	(Likely) benign	2 labs	b06f444ca0
X:100531413 TAF7L TTCATCC>T	X	100531413	100531442	TTCATCC	T	TAF7L	c.1047_1052del	NM_024885.4	NP_079161.3:p.(Glu353_Asp354del)	NC_000023.10:g.100531437_100531442del	(Likely) benign	2 labs	28d09eae9b
1:155874266 RIT1 A>G	1	155874266	155874266	A	G	RIT1	c.265T>C	NM_006912.6	NP_008843.1:p.(Tyr89His)	NC_000001.10:g.155874266A>G	(Likely) pathogenic	2 labs	b09541f9cf
9:135203231 SETX C>T	9	135203231	135203231	C	T	SETX	c.3754G>A	NM_015046.7	NP_055861.3:p.(Gly1252Arg)	NC_000009.11:g.135203231C>T	(Likely) benign	5 labs	28d2fda9f2
2:48026310 MSH6 C>CTT	2	48026310	48026312	C	CTT	MSH6	c.1189_1190insTT	NM_000179.3	NP_000170.1:p.(Tyr397PhefsTer15)	NC_000002.11:g.48026311_48026312insTT	(Likely) pathogenic	2 labs	b09ced4de8
1:53662764 CPT2 C>A	1	53662764	53662764	C	A	CPT2	c.149C>A	NM_000098.3	NP_000089.1:p.(Pro50His)	NC_000001.10:g.53662764C>A	(Likely) pathogenic	4 labs	28d3919ff7
3:15497520 COLQ G>A	3	15497520	15497520	G	A	COLQ	c.1051C>T	NM_080538.2	NP_536799.1:p.(Pro351Ser)	NC_000003.11:g.15497520G>A	(Likely) benign	2 labs	2a9a202d99
21:36259125 RUNX1 T>C	21	36259125	36259125	T	C	RUNX1	c.270+15A>G	NM_001001890.3	NP_001001890.1:p.?	NC_000021.8:g.36259125T>C	(Likely) benign	2 labs	28d9117c3e
19:7593589 MCOLN1 C>T	19	7593589	7593589	C	T	MCOLN1	c.984C>T	NM_020533.3	NP_065394.1:p.(Asn328=)	NC_000019.9:g.7593589C>T	(Likely) benign	2 labs	28e47d301c
5:180043973 FLT4 G>A	5	180043973	180043973	G	A	FLT4	c.3023C>T	NM_182925.5	NP_891555.2:p.(Pro1008Leu)	NC_000005.9:g.180043973G>A	VUS	3 labs	28e66aae8a
21:34925223 SON A>ATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGAC	21	34925223	34925278	A	ATTATTCAGTGTCAGCATCAGATCCCTCAGTTTTAGTATCAGAGGCTGCTGTGAC	SON	c.3688_3741dup	NM_032195.3	NP_115571.3:p.(Tyr1230_Thr1247dup)	NC_000021.8:g.34925225_34925278dup	(Likely) benign	2 labs	28ecab032d
17:59885995 BRIP1 G>A	17	59885995	59885995	G	A	BRIP1	c.751C>T	NM_032043.3	NP_114432.2:p.(Arg251Cys)	NC_000017.10:g.59885995G>A	(Likely) pathogenic	2 labs	28efd5b43e
17:62028920 SCN4A C>G	17	62028920	62028920	C	G	SCN4A	c.2717G>C	NM_000334.4	NP_000325.4:p.(Ser906Thr)	NC_000017.10:g.62028920C>G	(Likely) benign	2 labs	b1c31b97d8
16:2161620 PKD1 G>A	16	2161620	2161620	G	A	PKD1	c.3548C>T	NM_001009944.3	NP_001009944.3:p.(Ser1183Leu)	NC_000016.9:g.2161620G>A	(Likely) benign	2 labs	b1ec9803dc
2:47656969 MSH2 C>T	2	47656969	47656969	C	T	MSH2	c.1165C>T	NM_000251.3	NP_000242.1:p.(Arg389Ter)	NC_000002.11:g.47656969C>T	(Likely) pathogenic	3 labs	b1fa4dc96d
22:36745250 MYH9 T>C	22	36745250	36745250	T	C	MYH9	c.32A>G	NM_002473.6	NP_002464.1:p.(Tyr11Cys)	NC_000022.10:g.36745250T>C	(Likely) benign	2 labs	b20591fc45
18:19751425 GATA6 C>G	18	19751425	19751425	C	G	GATA6	c.320C>G	NM_005257.6	NP_005248.2:p.(Ser107Trp)	NC_000018.9:g.19751425C>G	VUS	2 labs	b2206b1e78
11:47369975 MYBPC3 C>T	11	47369975	47369975	C	T	MYBPC3	c.772G>A	NM_000256.3	NP_000247.2:p.(Glu258Lys)	NC_000011.9:g.47369975C>T	(Likely) pathogenic	5 labs	28f3f366ec
3:49456758 AMT C>T	3	49456758	49456758	C	T	AMT	c.631G>A	NM_000481.4	NP_000472.2:p.(Glu211Lys)	NC_000003.11:g.49456758C>T	(Likely) benign	3 labs	28f92060e6
19:1221264 STK11 T>C	19	1221264	1221264	T	C	STK11	c.787T>C	NM_000455.5	NP_000446.1:p.(Leu263=)	NC_000019.9:g.1221264T>C	(Likely) benign	5 labs	28f9c54fb8
6:74320242 SLC17A5 TAC>T	6	74320242	74320244	TAC	T	SLC17A5	c.1138_1139del	NM_012434.5	NP_036566.1:p.(Val380SerfsTer8)	NC_000006.11:g.74320243_74320244del	(Likely) pathogenic	2 labs	b29533e35a
12:112915455 PTPN11 T>C	12	112915455	112915455	T	C	PTPN11	c.854T>C	NM_002834.5	NP_002825.3:p.(Phe285Ser)	NC_000012.11:g.112915455T>C	(Likely) pathogenic	2 labs	b29a3a6945
3:148901407 CP C>A	3	148901407	148901407	C	A	CP	c.2286-15G>T	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901407C>A	(Likely) benign	2 labs	29038f7e51
4:5577960 EVC2 G>A	4	5577960	5577960	G	A	EVC2	c.3272+7C>T	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5577960G>A	(Likely) benign	2 labs	2acca1c5de
3:49166220 LAMB2 G>A	3	49166220	49166220	G	A	LAMB2	c.1764C>T	NM_002292.4	NP_002283.3:p.(Pro588=)	NC_000003.11:g.49166220G>A	(Likely) benign	2 labs	b322762d28
2:179407792 TTN A>G	2	179407792	179407792	A	G	TTN	c.96904+4T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407792A>G	(Likely) benign	2 labs	b325588238
1:215799170 USH2A T>C	1	215799170	215799170	T	C	USH2A	c.15562A>G	NM_206933.4	NP_996816.3:p.(Ser5188Gly)	NC_000001.10:g.215799170T>C	(Likely) benign	2 labs	b32ab62fde
11:19204288 CSRP3 A>G	11	19204288	19204288	A	G	CSRP3	c.514T>C	NM_003476.5	NP_003467.1:p.(Tyr172His)	NC_000011.9:g.19204288A>G	VUS	3 labs	290a816494
18:29125689 DSG2 G>T	18	29125689	29125689	G	T	DSG2	c.2340G>T	NM_001943.5	NP_001934.2:p.(Ala780=)	NC_000018.9:g.29125689G>T	(Likely) benign	2 labs	2ad78ed6a2
12:112926910 PTPN11 G>C	12	112926910	112926910	G	C	PTPN11	c.1530G>C	NM_002834.5	NP_002825.3:p.(Gln510His)	NC_000012.11:g.112926910G>C	(Likely) pathogenic	2 labs	b3c8966a63
10:112557371 RBM20 G>A	10	112557371	112557371	G	A	RBM20	c.1633G>A	NM_001134363.3	NP_001127835.2:p.(Val545Ile)	NC_000010.10:g.112557371G>A	(Likely) benign	3 labs	da62117d1e
19:50905913 POLD1 G>C	19	50905913	50905913	G	C	POLD1	c.885G>C	NM_002691.4	NP_002682.2:p.(Val295=)	NC_000019.9:g.50905913G>C	(Likely) benign	2 labs	b3ff7ec24a
17:41063408 G6PC1 C>T	17	41063408	41063408	C	T	G6PC1	c.1039C>T	NM_000151.4	NP_000142.2:p.(Gln347Ter)	NC_000017.10:g.41063408C>T	(Likely) pathogenic	2 labs	b400a88aba
3:38888414 SCN11A G>C	3	38888414	38888414	G	C	SCN11A	c.5147C>G	NM_001349253.2	NP_001336182.1:p.(Pro1716Arg)	NC_000003.11:g.38888414G>C	VUS	2 labs	b407c84ec0
2:148730367 ORC4 G>C	2	148730367	148730367	G	C	ORC4	c.166C>G	NM_181741.4	NP_859525.1:p.(Leu56Val)	NC_000002.11:g.148730367G>C	(Likely) benign	2 labs	b410688ed0
14:68236320 ZFYVE26 C>T	14	68236320	68236320	C	T	ZFYVE26	c.5612G>A	NM_015346.4	NP_056161.2:p.(Cys1871Tyr)	NC_000014.8:g.68236320C>T	(Likely) benign	2 labs	b42d7a712c
18:10699087 PIEZO2 C>G	18	10699087	10699087	C	G	PIEZO2	c.6191G>C	NM_022068.4	NP_071351.2:p.(Arg2064Thr)	NC_000018.9:g.10699087C>G	(Likely) benign	2 labs	b436e6ecfd
15:36989578 CDIN1 C>T	15	36989578	36989578	C	T	CDIN1	c.531C>T	NM_001321759.2	NP_001308688.1:p.(Asn177=)	NC_000015.9:g.36989578C>T	(Likely) benign	2 labs	b460ae2e11
9:35683229 TPM2 T>C	9	35683229	35683229	T	C	TPM2	c.782A>G	NM_003289.4	NP_003280.2:p.(Tyr261Cys)	NC_000009.11:g.35683229T>C	(Likely) pathogenic	2 labs	b4c6535616
17:59761365 BRIP1 A>G	17	59761365	59761365	A	G	BRIP1	c.3042T>C	NM_032043.2	NP_114432.2:p.(Gly1014=)	NC_000017.10:g.59761365A>G	(Likely) benign	2 labs	2afb09aacd
22:29090060 CHEK2 C>T	22	29090060	29090060	C	T	CHEK2	c.1421G>A	NM_007194.4	NP_009125.1:p.(Arg474His)	NC_000022.10:g.29090060C>T	(Likely) pathogenic	5 labs	292c832f2f
17:78092585 GAA C>T	17	78092585	78092585	C	T	GAA	c.2780C>T	NM_000152.3	NP_000143.2:p.(Thr927Ile)	NC_000017.10:g.78092585C>T	(Likely) benign	2 labs	2afddf7e07
10:89692904 PTEN C>T	10	89692904	89692904	C	T	PTEN	c.388C>T	NM_000314.8	NP_000305.3:p.(Arg130Ter)	NC_000010.10:g.89692904C>T	(Likely) pathogenic	2 labs	b552c86bcc
12:52307145 ACVRL1 C>T	12	52307145	52307145	C	T	ACVRL1	c.313+11C>T	NM_000020.3	NP_000011.2:p.?	NC_000012.11:g.52307145C>T	(Likely) benign	3 labs	293266040c
5:89988412 ADGRV1 G>A	5	89988412	89988412	G	A	ADGRV1	c.6952-10G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89988412G>A	(Likely) benign	2 labs	2b047ba659
7:6042441 PMS2 A>G	7	6042441	6042441	A	G	PMS2	c.354-174T>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6042441A>G	(Likely) benign	2 labs	b570617248
12:2694639 CACNA1C G>A	12	2694639	2694639	G	A	CACNA1C	c.2437G>A	NM_000719.7	NP_000710.5:p.(Gly813Arg)	NC_000012.11:g.2694639G>A	VUS	3 labs	2933cf75a2
17:4837743 GP1BA CTAATG>C	17	4837743	4837748	CTAATG	C	GP1BA	c.1845_1849del	NM_000173.7	NP_000164.5:p.(Asn616ProfsTer29)	NC_000017.10:g.4837744_4837748del	VUS	2 labs	b5d4f05580
15:89391245 ACAN T>C	15	89391245	89391245	T	C	ACAN	c.1708T>C	NM_001369268.1	NP_001356197.1:p.(Tyr570His)	NC_000015.9:g.89391245T>C	VUS	2 labs	b5e9d55a18
19:55451257 NLRP7 C>A	19	55451257	55451257	C	A	NLRP7	c.930G>T	NM_001127255.1	NP_001120727.1:p.(Gln310His)	NC_000019.9:g.55451257C>A	(Likely) benign	2 labs	29373bd748
2:48030825 MSH6 G>A	2	48030825	48030825	G	A	MSH6	c.3438+1G>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030825G>A	(Likely) pathogenic	2 labs	b646331bcc
X:49084823 CACNA1F G>A	X	49084823	49084823	G	A	CACNA1F	c.904C>T	NM_001256789.3	NP_001243718.1:p.(Arg302Cys)	NC_000023.10:g.49084823G>A	VUS	2 labs	b64e04fa1e
7:47968830 PKD1L1 G>A	7	47968830	47968830	G	A	PKD1L1	c.1031C>T	NM_138295.5	NP_612152.1:p.(Ala344Val)	NC_000007.13:g.47968830G>A	(Likely) benign	2 labs	b660493bab
21:44478964 CBS C>T	21	44478964	44478964	C	T	CBS	c.1338G>A	NM_000071.3	NP_000062.1:p.(Ala446=)	NC_000021.8:g.44478964C>T	(Likely) benign	2 labs	b666009f3f
7:47860690 PKD1L1 G>A	7	47860690	47860690	G	A	PKD1L1	c.6949C>T	NM_138295.5	NP_612152.1:p.(Arg2317Trp)	NC_000007.13:g.47860690G>A	(Likely) benign	2 labs	b68aa131b3
17:41243840 BRCA1 A>C	17	41243840	41243840	A	C	BRCA1	c.3708T>G	NM_007294.4	NP_009225.1:p.(Asn1236Lys)	NC_000017.10:g.41243840A>C	(Likely) benign	6 labs	29496f44b8
1:179544898 NPHS2 T>C	1	179544898	179544898	T	C	NPHS2	c.102A>G	NM_014625.4	NP_055440.1:p.(Gly34=)	NC_000001.10:g.179544898T>C	(Likely) benign	3 labs	294d765e23
2:179584010 TTN G>A	2	179584010	179584010	G	A	TTN	c.20375C>T	NM_133378.4	NP_596869.4:p.(Ser6792Leu)	NC_000002.11:g.179584010G>A	VUS	2 labs	29527e1022
X:44922890 KDM6A C>T	X	44922890	44922890	C	T	KDM6A	c.1907C>T	NM_001291415.2	NP_001278344.1:p.(Thr636Met)	NC_000023.10:g.44922890C>T	(Likely) benign	5 labs	295c8a9862
5:112174096 APC C>T	5	112174096	112174096	C	T	APC	c.2805C>T	NM_000038.6	NP_000029.2:p.(Tyr935=)	NC_000005.9:g.112174096C>T	(Likely) benign	2 labs	b77134c6ca
8:55539057 RP1 G>A	8	55539057	55539057	G	A	RP1	c.2615G>A	NM_006269.2	NP_006260.1:p.(Arg872His)	NC_000008.10:g.55539057G>A	(Likely) benign	2 labs	295ef35c60
8:22052390 BMP1 G>C	8	22052390	22052390	G	C	BMP1	c.1597G>C	NM_006129.5	NP_006120.1:p.(Gly533Arg)	NC_000008.10:g.22052390G>C	VUS	2 labs	b7a79eec7c
15:73660066 HCN4 G>C	15	73660066	73660066	G	C	HCN4	c.546C>G	NM_005477.3	NP_005468.1:p.(Pro182=)	NC_000015.9:g.73660066G>C	(Likely) benign	2 labs	2b44447197
1:47882078 FOXE3 C>T	1	47882078	47882078	C	T	FOXE3	c.91C>T	NM_012186.3	NP_036318.1:p.(Pro31Ser)	NC_000001.10:g.47882078C>T	VUS	2 labs	b7e0b02eb4
17:16852186 TNFRSF13B C>T	17	16852186	16852186	C	T	TNFRSF13B	c.311G>A	NM_012452.3	NP_036584.1:p.(Cys104Tyr)	NC_000017.10:g.16852186C>T	(Likely) pathogenic	2 labs	2973a9234e
17:41277322 BRCA1 C>T	17	41277322	41277322	C	T	BRCA1	c.-54G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277322C>T	(Likely) benign	2 labs	b8839589cd
12:53722098 SP7 A>G	12	53722098	53722098	A	G	SP7	c.1128T>C	NM_001173467.3	NP_001166938.1:p.(His376=)	NC_000012.11:g.53722098A>G	(Likely) benign	2 labs	298075119b
13:32972744 BRCA2 T>TGAATTATATC	13	32972744	32972745	T	TGAATTATATC	BRCA2	c.10094_10095insGAATTATATC	NM_000059.4	NP_000050.3:p.(Ser3366AsnfsTer5)	NC_000013.10:g.32972744_32972745insGAATTATATC	VUS	2 labs	b9704a870f
17:73518203 TSEN54 G>C	17	73518203	73518203	G	C	TSEN54	c.1041G>C	NM_207346.3	NP_997229.2:p.(Lys347Asn)	NC_000017.10:g.73518203G>C	(Likely) benign	4 labs	29918037a9
16:11097016 CLEC16A G>A	16	11097016	11097016	G	A	CLEC16A	c.1157G>A	NM_015226.3	NP_056041.1:p.(Arg386Gln)	NC_000016.9:g.11097016G>A	VUS	2 labs	299511edd7
17:42228371 HROB C>T	17	42228371	42228371	C	T	HROB	c.1267C>T	NM_001171251.3	NP_001164722.1:p.(Gln423Ter)	NC_000017.10:g.42228371C>T	(Likely) pathogenic	2 labs	ba0040559a
2:27460966 CAD G>A	2	27460966	27460966	G	A	CAD	c.4771G>A	NM_004341.5	NP_004332.2:p.(Ala1591Thr)	NC_000002.11:g.27460966G>A	VUS	2 labs	ba0ede6727
6:129833555 LAMA2 C>T	6	129833555	129833555	C	T	LAMA2	c.8905C>T	NM_000426.4	NP_000417.3:p.(Arg2969Cys)	NC_000006.11:g.129833555C>T	VUS	2 labs	ba569849d3
6:102376391 GRIK2 G>A	6	102376391	102376391	G	A	GRIK2	c.1969G>A	NM_021956.5	NP_068775.1:p.(Ala657Thr)	NC_000006.11:g.102376391G>A	VUS	2 labs	ba88f30b36
3:57131663 IL17RD A>T	3	57131663	57131663	A	T	IL17RD	c.2068T>A	NM_017563.5	NP_060033.3:p.(Ser690Thr)	NC_000003.11:g.57131663A>T	VUS	2 labs	ba8f50e74a
4:15602873 CC2D2A C>T	4	15602873	15602873	C	T	CC2D2A	c.4688C>T	NM_001080522.2	NP_001073991.2:p.(Pro1563Leu)	NC_000004.11:g.15602873C>T	VUS	2 labs	ba8e2dcbd9
16:89590648 SPG7 G>T	16	89590648	89590648	G	T	SPG7	c.611G>T	NM_003119.4	NP_003110.1:p.(Gly204Val)	NC_000016.9:g.89590648G>T	VUS	2 labs	ba9a25e0b6
1:22408199 CDC42 A>AT	1	22408199	22408206	A	AT	CDC42	c.106-9dup	NM_001039802.2	NP_001034891.1:p.?	NC_000001.10:g.22408206dup	(Likely) benign	2 labs	babc242501
11:108181006 ATM A>G	11	108181006	108181006	A	G	ATM	c.5882A>G	NM_000051.4	NP_000042.3:p.(Tyr1961Cys)	NC_000011.9:g.108181006A>G	VUS	2 labs	bb5b4a17af
12:7045891 ATN1 A>ACAGCAGCAG	12	7045891	7045938	A	ACAGCAGCAG	ATN1	c.1500_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln500_Gln502dup)	NC_000012.11:g.7045930_7045938dup	(Likely) benign	2 labs	bbb545a60e
2:48027464 MSH6 C>A	2	48027464	48027464	C	A	MSH6	c.2342C>A	NM_000179.3	NP_000170.1:p.(Pro781Gln)	NC_000002.11:g.48027464C>A	(Likely) pathogenic	3 labs	bbc234a378
15:89862465 POLG G>A	15	89862465	89862465	G	A	POLG	c.3098C>T	NM_002693.3	NP_002684.1:p.(Ala1033Val)	NC_000015.9:g.89862465G>A	VUS	2 labs	29b54e10a7
9:139396511 NOTCH1 A>G	9	139396511	139396511	A	G	NOTCH1	c.5414T>C	NM_017617.5	NP_060087.3:p.(Leu1805Pro)	NC_000009.11:g.139396511A>G	VUS	2 labs	bc01c54513
3:37038192 MLH1 G>A	3	37038192	37038192	G	A	MLH1	c.199G>A	NM_000249.4	NP_000240.1:p.(Gly67Arg)	NC_000003.11:g.37038192G>A	(Likely) pathogenic	2 labs	29bb0b815f
2:220284998 DES G>A	2	220284998	220284998	G	A	DES	c.665G>A	NM_001927.3	NP_001918.3:p.(Arg222His)	NC_000002.11:g.220284998G>A	(Likely) benign	2 labs	2bb6e299d4
2:39249914 SOS1 C>T	2	39249914	39249914	C	T	SOS1	c.1655G>A	NM_005633.4	NP_005624.2:p.(Arg552Lys)	NC_000002.11:g.39249914C>T	(Likely) pathogenic	2 labs	bcad160f45
4:166924719 TLL1 C>G	4	166924719	166924719	C	G	TLL1	c.809C>G	NM_012464.5	NP_036596.3:p.(Pro270Arg)	NC_000004.11:g.166924719C>G	VUS	2 labs	2bba44f913
9:135203318 SETX ACTT>A	9	135203318	135203324	ACTT	A	SETX	c.3664_3666del	NM_015046.7	NP_055861.3:p.(Lys1222del)	NC_000009.11:g.135203322_135203324del	VUS	3 labs	29d614c120
X:47057647 UBA1 A>G	X	47057647	47057647	A	G	UBA1	c.1-555A>G	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47057647A>G	(Likely) benign	2 labs	29d77dd975
20:30412169 MYLK2 G>A	20	30412169	30412169	G	A	MYLK2	c.972+14G>A	NM_033118.4	NP_149109.1:p.?	NC_000020.10:g.30412169G>A	(Likely) benign	2 labs	29db11bb50
11:108114793 ATM G>A	11	108114793	108114793	G	A	ATM	c.610G>A	NM_000051.4	NP_000042.3:p.(Gly204Arg)	NC_000011.9:g.108114793G>A	VUS	2 labs	bd32661ee4
11:108115601 ATM G>A	11	108115601	108115601	G	A	ATM	c.749G>A	NM_000051.4	NP_000042.3:p.(Arg250Gln)	NC_000011.9:g.108115601G>A	VUS	2 labs	bd4a858637
2:69581708 GFPT1 T>C	2	69581708	69581708	T	C	GFPT1	c.606-8A>G	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69581708T>C	(Likely) pathogenic	2 labs	bd513df5b5
14:68220932 ZFYVE26 G>A	14	68220932	68220932	G	A	ZFYVE26	c.6987-3C>T	NM_015346.4	NP_056161.2:p.?	NC_000014.8:g.68220932G>A	(Likely) benign	2 labs	bd7ef3dd7a
17:62019123 SCN4A C>T	17	62019123	62019123	C	T	SCN4A	c.4519G>A	NM_000334.4	NP_000325.4:p.(Val1507Ile)	NC_000017.10:g.62019123C>T	(Likely) benign	2 labs	bdb602fa56
17:33446607 RAD51D C>G	17	33446607	33446607	C	G	RAD51D	c.26G>C	NM_002878.4	NP_002869.3:p.(Cys9Ser)	NC_000017.10:g.33446607C>G	VUS	2 labs	bdf56eba17
1:92763091 GLMN C>A	1	92763091	92763091	C	A	GLMN	c.40-5G>T	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92763091C>A	(Likely) benign	2 labs	bdf880ab03
15:89400680 ACAN A>G	15	89400680	89400680	A	G	ACAN	c.4864A>G	NM_001369268.1	NP_001356197.1:p.(Thr1622Ala)	NC_000015.9:g.89400680A>G	(Likely) benign	2 labs	be0570156f
14:102449338 DYNC1H1 C>CT	14	102449338	102449341	C	CT	DYNC1H1	c.962-15dup	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102449341dup	(Likely) benign	4 labs	2a09f38ee3
X:48336506 FTSJ1 G>A	X	48336506	48336506	G	A	FTSJ1	c.71G>A	NM_012280.4	NP_036412.1:p.(Arg24His)	NC_000023.10:g.48336506G>A	VUS	2 labs	be787d695e
1:152281172 FLG T>G	1	152281172	152281172	T	G	FLG	c.6190A>C	NM_002016.2	NP_002007.1:p.(Lys2064Gln)	NC_000001.10:g.152281172T>G	(Likely) benign	2 labs	be891ede0d
12:8991788 A2ML1 T>C	12	8991788	8991788	T	C	A2ML1	c.1050T>C	NM_144670.6	NP_653271.3:p.(Phe350=)	NC_000012.11:g.8991788T>C	(Likely) benign	2 labs	bead882159
X:153764371 G6PD A>G	X	153764371	153764371	A	G	G6PD	c.143T>C	NM_001360016.2	NP_001346945.1:p.(Ile48Thr)	NC_000023.10:g.153764371A>G	(Likely) pathogenic	2 labs	bebb083c26
17:62049738 SCN4A G>A	17	62049738	62049738	G	A	SCN4A	c.366C>T	NM_000334.4	NP_000325.4:p.(Arg122=)	NC_000017.10:g.62049738G>A	(Likely) benign	2 labs	bec1e0f63c
9:95491490 BICD2 T>C	9	95491490	95491490	T	C	BICD2	c.269A>G	NM_015250.4	NP_056065.1:p.(Lys90Arg)	NC_000009.11:g.95491490T>C	(Likely) benign	2 labs	bed012ff4f
17:59885892 BRIP1 T>C	17	59885892	59885892	T	C	BRIP1	c.854A>G	NM_032043.3	NP_114432.2:p.(His285Arg)	NC_000017.10:g.59885892T>C	VUS	2 labs	beda55e2ef
19:36322270 NPHS1 C>T	19	36322270	36322270	C	T	NPHS1	c.3315G>A	NM_004646.3	NP_004637.1:p.(Ser1105=)	NC_000019.9:g.36322270C>T	(Likely) benign	2 labs	2c0332e5a0
6:7583050 DSP G>A	6	7583050	7583050	G	A	DSP	c.5555G>A	NM_004415.4	NP_004406.2:p.(Arg1852His)	NC_000006.11:g.7583050G>A	(Likely) benign	2 labs	2a1f4b433a
9:107588035 ABCA1 G>A	9	107588035	107588035	G	A	ABCA1	c.2471C>T	NM_005502.4	NP_005493.2:p.(Ser824Leu)	NC_000009.11:g.107588035G>A	VUS	2 labs	2a1ff97493
4:107181631 TBCK T>C	4	107181631	107181631	T	C	TBCK	c.418A>G	NM_001163435.3	NP_001156907.2:p.(Met140Val)	NC_000004.11:g.107181631T>C	VUS	2 labs	bf0f54daf4
19:18001686 SLC5A5 G>A	19	18001686	18001686	G	A	SLC5A5	c.1652-9G>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.18001686G>A	(Likely) benign	2 labs	2a20b4ed58
8:133981746 TG G>A	8	133981746	133981746	G	A	TG	c.5907G>A	NM_003235.5	NP_003226.4:p.(Pro1969=)	NC_000008.10:g.133981746G>A	(Likely) benign	2 labs	bf6f5b277a
6:65655687 EYS G>A	6	65655687	65655687	G	A	EYS	c.2380C>T	NM_001142800.2	NP_001136272.1:p.(Arg794Ter)	NC_000006.11:g.65655687G>A	(Likely) pathogenic	2 labs	bf7d575135
2:179452145 TTN C>T	2	179452145	179452145	C	T	TTN	c.63794-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179452145C>T	(Likely) pathogenic	3 labs	2a2a48bbcb
1:152279525 FLG T>A	1	152279525	152279525	T	A	FLG	c.7837A>T	NM_002016.2	NP_002007.1:p.(Arg2613Ter)	NC_000001.10:g.152279525T>A	(Likely) pathogenic	2 labs	bf8da24a04
9:34648020 GALT G>A	9	34648020	34648020	G	A	GALT	c.507+62G>A	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34648020G>A	(Likely) benign	2 labs	bf9c429d50
1:156106827 LMNA G>A	1	156106827	156106827	G	A	LMNA	c.1488+8G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106827G>A	(Likely) benign	2 labs	bfacfeb42e
2:179426914 TTN A>G	2	179426914	179426914	A	G	TTN	c.83945T>C	NM_001267550.2	NP_001254479.2:p.(Ile27982Thr)	NC_000002.11:g.179426914A>G	VUS	2 labs	bfb2abbf6c
X:77276563 ATP7A A>G	X	77276563	77276563	A	G	ATP7A	c.2903A>G	NM_000052.7	NP_000043.4:p.(Glu968Gly)	NC_000023.10:g.77276563A>G	(Likely) benign	3 labs	2a2c6fc4a8
7:44104788 PGAM2 A>C	7	44104788	44104788	A	C	PGAM2	c.341T>G	NM_000290.4	NP_000281.2:p.(Ile114Ser)	NC_000007.13:g.44104788A>C	(Likely) benign	2 labs	2c146818e1
11:108154990 ATM T>G	11	108154990	108154990	T	G	ATM	c.3783T>G	NM_000051.4	NP_000042.3:p.(Ile1261Met)	NC_000011.9:g.108154990T>G	VUS	2 labs	c01c299f79
9:35793055 NPR2 T>C	9	35793055	35793055	T	C	NPR2	c.650T>C	NM_003995.4	NP_003986.2:p.(Ile217Thr)	NC_000009.11:g.35793055T>C	VUS	2 labs	c07e648979
8:145001589 PLEC G>T	8	145001589	145001589	G	T	PLEC	c.4156C>A	NM_201380.4	NP_958782.1:p.(Arg1386=)	NC_000008.10:g.145001589G>T	(Likely) benign	3 labs	2a3ac8117e
16:19639051 VPS35L G>A	16	19639051	19639051	G	A	VPS35L	c.1307G>A	NM_020314.7	NP_064710.5:p.(Arg436Gln)	NC_000016.9:g.19639051G>A	VUS	2 labs	c0a81389f7
2:48026531 MSH6 C>G	2	48026531	48026531	C	G	MSH6	c.1409C>G	NM_000179.3	NP_000170.1:p.(Ser470Ter)	NC_000002.11:g.48026531C>G	(Likely) pathogenic	3 labs	2a3e5ffa74
12:6127894 VWF G>A	12	6127894	6127894	G	A	VWF	c.4690C>T	NM_000552.5	NP_000543.3:p.(Arg1564Trp)	NC_000012.11:g.6127894G>A	VUS	2 labs	c104d19381
1:120465007 NOTCH2 T>A	1	120465007	120465007	T	A	NOTCH2	c.5065A>T	NM_024408.4	NP_077719.2:p.(Ile1689Phe)	NC_000001.10:g.120465007T>A	(Likely) benign	2 labs	3310632740
4:1806041 FGFR3 G>A	4	1806041	1806041	G	A	FGFR3	c.1076-16G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1806041G>A	(Likely) benign	2 labs	c147999704
2:48026787 MSH6 A>G	2	48026787	48026787	A	G	MSH6	c.1665A>G	NM_000179.3	NP_000170.1:p.(Ala555=)	NC_000002.11:g.48026787A>G	(Likely) benign	2 labs	c1de77622b
4:79387555 FRAS1 A>G	4	79387555	79387555	A	G	FRAS1	c.7223A>G	NM_025074.7	NP_079350.5:p.(Asn2408Ser)	NC_000004.11:g.79387555A>G	VUS	3 labs	2a55d5550f
19:10463118 TYK2 G>C	19	10463118	10463118	G	C	TYK2	c.3310C>G	NM_003331.4	NP_003322.3:p.(Pro1104Ala)	NC_000019.9:g.10463118G>C	(Likely) benign	2 labs	2c5876d67e
X:49114015 FOXP3 G>A	X	49114015	49114015	G	A	FOXP3	c.323C>T	NM_014009.4	NP_054728.2:p.(Thr108Met)	NC_000023.10:g.49114015G>A	VUS	2 labs	c233c5c390
7:75695627 MDH2 G>A	7	75695627	75695627	G	A	MDH2	c.916G>A	NM_005918.4	NP_005909.2:p.(Gly306Ser)	NC_000007.13:g.75695627G>A	(Likely) benign	2 labs	c25e2e12fb
14:23857063 MYH6 G>A	14	23857063	23857063	G	A	MYH6	c.4429C>T	NM_002471.4	NP_002462.2:p.(Arg1477Cys)	NC_000014.8:g.23857063G>A	VUS	5 labs	2a5c896551
3:37059094 MLH1 A>G	3	37059094	37059094	A	G	MLH1	c.884+4A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37059094A>G	(Likely) pathogenic	2 labs	c27cf6d816
6:52355065 EFHC1 G>C	6	52355065	52355065	G	C	EFHC1	c.1768G>C	NM_018100.4	NP_060570.2:p.(Ala590Pro)	NC_000006.11:g.52355065G>C	(Likely) benign	2 labs	c288268402
X:32472763 DMD C>CTT	X	32472763	32472776	C	CTT	DMD	c.3603+14_3603+15dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32472775_32472776dup	(Likely) benign	4 labs	2a5f7df537
22:19754277 TBX1 G>C	22	19754277	19754277	G	C	TBX1	c.1402G>C	NM_001379200.1	NP_001366129.1:p.(Val468Leu)	NC_000022.10:g.19754277G>C	(Likely) benign	2 labs	c2dcfae1af
4:167020441 TLL1 G>A	4	167020441	167020441	G	A	TLL1	c.2669G>A	NM_012464.5	NP_036596.3:p.(Arg890Gln)	NC_000004.11:g.167020441G>A	VUS	2 labs	c2f56999fa
5:156016221 SGCD C>A	5	156016221	156016221	C	A	SGCD	c.295-20C>A	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.156016221C>A	(Likely) benign	2 labs	2a696f638c
14:50655380 SOS2 C>G	14	50655380	50655380	C	G	SOS2	c.549G>C	NM_006939.4	NP_008870.2:p.(Leu183Phe)	NC_000014.8:g.50655380C>G	(Likely) benign	2 labs	c316b5cc84
20:61039958 GATA5 T>C	20	61039958	61039958	T	C	GATA5	c.1128A>G	NM_080473.5	NP_536721.1:p.(Pro376=)	NC_000020.10:g.61039958T>C	(Likely) benign	2 labs	2a6d4f387c
12:2602399 CACNA1C G>A	12	2602399	2602399	G	A	CACNA1C	c.960G>A	NM_000719.7	NP_000710.5:p.(Thr320=)	NC_000012.11:g.2602399G>A	(Likely) benign	2 labs	c336529b38
10:89469046 PAPSS2 C>T	10	89469046	89469046	C	T	PAPSS2	c.121C>T	NM_001015880.2	NP_001015880.1:p.(Arg41Ter)	NC_000010.10:g.89469046C>T	(Likely) pathogenic	2 labs	c36cf82ab7
1:237754020 RYR2 C>T	1	237754020	237754020	C	T	RYR2	c.3888C>T	NM_001035.3	NP_001026.2:p.(Asn1296=)	NC_000001.10:g.237754020C>T	(Likely) benign	5 labs	2a6f5e2fb2
9:34646572 GALT CCAGT>C	9	34646572	34646586	CCAGT	C	GALT				NC_000009.11:g.34646583_34646586del	(Likely) pathogenic	2 labs	c3ba60cb7f
19:36321791 NPHS1 G>T	19	36321791	36321791	G	T	NPHS1	c.3549C>A	NM_004646.4	NP_004637.1:p.(Tyr1183Ter)	NC_000019.9:g.36321791G>T	(Likely) pathogenic	2 labs	c3c62bbf0f
12:7050543 ATN1 C>G	12	7050543	7050543	C	G	ATN1	c.3365C>G	NM_001007026.2	NP_001007027.1:p.(Pro1122Arg)	NC_000012.11:g.7050543C>G	VUS	2 labs	2a7aa8ce29
2:179440757 TTN T>C	2	179440757	179440757	T	C	TTN	c.62398A>G	NM_133378.4	NP_596869.4:p.(Ile20800Val)	NC_000002.11:g.179440757T>C	VUS	3 labs	2a7eeaf54b
2:220422126 OBSL1 G>T	2	220422126	220422126	G	T	OBSL1	c.4005C>A	NM_015311.3	NP_056126.1:p.(Asp1335Glu)	NC_000002.11:g.220422126G>T	VUS	2 labs	c42e9cbca7
11:103055627 DYNC2H1 T>A	11	103055627	103055627	T	A	DYNC2H1	c.6480T>A	NM_001377.3	NP_001368.2:p.(Asn2160Lys)	NC_000011.9:g.103055627T>A	VUS	2 labs	c446a67419
10:73498355 CDH23 G>A	10	73498355	73498355	G	A	CDH23	c.4310G>A	NM_022124.6	NP_071407.4:p.(Arg1437Gln)	NC_000010.10:g.73498355G>A	(Likely) benign	2 labs	c44957f784
2:179400586 TTN A>G	2	179400586	179400586	A	G	TTN	c.100766-10T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400586A>G	(Likely) benign	4 labs	2a8f4e8a03
11:17632651 OTOG C>T	11	17632651	17632651	C	T	OTOG	c.5840C>T	NM_001277269.2	NP_001264198.1:p.(Thr1947Met)	NC_000011.9:g.17632651C>T	(Likely) benign	2 labs	2a8fca6deb
9:130444849 STXBP1 C>T	9	130444849	130444849	C	T	STXBP1	c.1702+10C>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130444849C>T	(Likely) benign	2 labs	2c91528822
19:30193632 C19orf12 T>C	19	30193632	30193632	T	C	C19orf12	c.413A>G	NM_031448.6	NP_113636.2:p.(Gln138Arg)	NC_000019.9:g.30193632T>C	(Likely) benign	5 labs	2aa2e824db
7:128477810 FLNC G>A	7	128477810	128477810	G	A	FLNC	c.969+1G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477810G>A	VUS	2 labs	c591b68a0f
5:127673721 FBN2 T>G	5	127673721	127673721	T	G	FBN2	c.3566A>C	NM_001999.4	NP_001990.2:p.(His1189Pro)	NC_000005.9:g.127673721T>G	VUS	2 labs	c585dc426b
2:179600563 TTN G>A	2	179600563	179600563	G	A	TTN	c.14610C>T	NM_001267550.2	NP_001254479.2:p.(Ser4870=)	NC_000002.11:g.179600563G>A	(Likely) benign	3 labs	2aa6e4f0f1
5:1294598 TERT C>T	5	1294598	1294598	C	T	TERT	c.403G>A	NM_198253.3	NP_937983.2:p.(Gly135Arg)	NC_000005.9:g.1294598C>T	VUS	2 labs	c5c243af7d
9:98209358 PTCH1 G>A	9	98209358	98209358	G	A	PTCH1	c.4180C>T	NM_000264.5	NP_000255.2:p.(Arg1394Ter)	NC_000009.11:g.98209358G>A	(Likely) pathogenic	2 labs	c5e5dd1cae
3:58110119 FLNB G>C	3	58110119	58110119	G	C	FLNB	c.3785G>C	NM_001164317.2	NP_001157789.1:p.(Gly1262Ala)	NC_000003.11:g.58110119G>C	(Likely) benign	2 labs	c5fe4dde68
6:91278326 MAP3K7 C>T	6	91278326	91278326	C	T	MAP3K7	c.248G>A	NM_145331.3	NP_663304.1:p.(Arg83His)	NC_000006.11:g.91278326C>T	(Likely) pathogenic	2 labs	c607cff54d
20:3209500 SLC4A11 C>T	20	3209500	3209500	C	T	SLC4A11	c.2176G>A	NM_001174089.2	NP_001167560.1:p.(Gly726Arg)	NC_000020.10:g.3209500C>T	VUS	2 labs	c6b2c99467
11:108121716 ATM T>C	11	108121716	108121716	T	C	ATM	c.1524T>C	NM_000051.4	NP_000042.3:p.(Leu508=)	NC_000011.9:g.108121716T>C	(Likely) benign	3 labs	c6f6e408c9
2:47641559 MSH2 TAAAA>T	2	47641559	47641586	TAAAA	T	MSH2	c.942+26_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641583_47641586del	(Likely) benign	3 labs	2aced7d8ce
19:38948886 RYR1 C>A	19	38948886	38948886	C	A	RYR1	c.2121C>A	NM_000540.3	NP_000531.2:p.(Gly707=)	NC_000019.9:g.38948886C>A	(Likely) benign	2 labs	c7420f0b55
7:151860455 KMT2C G>A	7	151860455	151860455	G	A	KMT2C	c.10207C>T	NM_170606.3	NP_733751.2:p.(Arg3403Cys)	NC_000007.13:g.151860455G>A	(Likely) benign	2 labs	c7499c4ea8
2:233199163 DIS3L2 G>A	2	233199163	233199163	G	A	DIS3L2	c.2243G>A	NM_152383.5	NP_689596.4:p.(Arg748His)	NC_000002.11:g.233199163G>A	VUS	2 labs	c75d74cb32
6:129419400 LAMA2 A>T	6	129419400	129419400	A	T	LAMA2	c.479A>T	NM_000426.4	NP_000417.3:p.(Asp160Val)	NC_000006.11:g.129419400A>T	VUS	2 labs	c7d35d4f02
2:44071639 ABCG8 C>T	2	44071639	44071639	C	T	ABCG8	c.64-7C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071639C>T	(Likely) benign	3 labs	2adb199e0b
12:88482960 CEP290 A>C	12	88482960	88482960	A	C	CEP290	c.3878T>G	NM_025114.4	NP_079390.3:p.(Leu1293Arg)	NC_000012.11:g.88482960A>C	VUS	2 labs	c834a7143a
5:171789779 SH3PXD2B G>A	5	171789779	171789779	G	A	SH3PXD2B	c.522C>T	NM_001017995.3	NP_001017995.1:p.(Ser174=)	NC_000005.9:g.171789779G>A	(Likely) benign	2 labs	c857bc0138
16:88874655 CDT1 C>T	16	88874655	88874655	C	T	CDT1	c.1610C>T	NM_030928.4	NP_112190.2:p.(Ala537Val)	NC_000016.9:g.88874655C>T	(Likely) benign	2 labs	c881c087c0
1:152280932 FLG G>A	1	152280932	152280932	G	A	FLG	c.6430C>T	NM_002016.2	NP_002007.1:p.(Pro2144Ser)	NC_000001.10:g.152280932G>A	(Likely) benign	2 labs	c8a05e5249
15:89388905 ACAN C>T	15	89388905	89388905	C	T	ACAN	c.1221C>T	NM_001369268.1	NP_001356197.1:p.(Val407=)	NC_000015.9:g.89388905C>T	(Likely) benign	2 labs	c8b1deeb35
11:6661447 DCHS1 G>A	11	6661447	6661447	G	A	DCHS1	c.1398C>T	NM_003737.4	NP_003728.1:p.(Asn466=)	NC_000011.9:g.6661447G>A	(Likely) benign	2 labs	c8c4a8328b
19:38951142 RYR1 C>T	19	38951142	38951142	C	T	RYR1	c.2488C>T	NM_000540.3	NP_000531.2:p.(Arg830Trp)	NC_000019.9:g.38951142C>T	VUS	2 labs	c8d5fed153
2:166183395 SCN2A C>T	2	166183395	166183395	C	T	SCN2A	c.2050C>T	NM_021007.3	NP_066287.2:p.(Arg684Trp)	NC_000002.11:g.166183395C>T	(Likely) benign	2 labs	2aeb82874b
12:112910793 PTPN11 G>T	12	112910793	112910793	G	T	PTPN11	c.802G>T	NM_002834.5	NP_002825.3:p.(Gly268Cys)	NC_000012.11:g.112910793G>T	(Likely) pathogenic	2 labs	c9c8f3895f
20:10622214 JAG1 C>T	20	10622214	10622214	C	T	JAG1	c.2810G>A	NM_000214.3	NP_000205.1:p.(Arg937Gln)	NC_000020.10:g.10622214C>T	(Likely) benign	4 labs	2af64f1cd2
12:110017759 MVK C>T	12	110017759	110017759	C	T	MVK	c.371+8C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017759C>T	(Likely) benign	2 labs	2cf32cb98c
20:10620386 JAG1 A>G	20	10620386	10620386	A	G	JAG1	c.3417T>C	NM_000214.3	NP_000205.1:p.(Tyr1139=)	NC_000020.10:g.10620386A>G	(Likely) benign	3 labs	2af6be12be
4:110685679 CFI A>T	4	110685679	110685679	A	T	CFI	c.482+14T>A	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110685679A>T	(Likely) benign	2 labs	2cf77a632b
1:12027060 PLOD1 A>G	1	12027060	12027060	A	G	PLOD1	c.1667A>G	NM_000302.4	NP_000293.2:p.(Tyr556Cys)	NC_000001.10:g.12027060A>G	VUS	2 labs	ca00f7d800
17:62021185 SCN4A G>A	17	62021185	62021185	G	A	SCN4A	c.3938C>T	NM_000334.4	NP_000325.4:p.(Thr1313Met)	NC_000017.10:g.62021185G>A	(Likely) pathogenic	2 labs	ca19928d78
17:78082409 GAA G>C	17	78082409	78082409	G	C	GAA	c.1194+3G>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78082409G>C	VUS	2 labs	2cfc04a6c4
15:89401958 ACAN C>G	15	89401958	89401958	C	G	ACAN	c.6142C>G	NM_001369268.1	NP_001356197.1:p.(Pro2048Ala)	NC_000015.9:g.89401958C>G	VUS	2 labs	ca3c77edd8
18:42618578 SETBP1 G>C	18	42618578	42618578	G	C	SETBP1	c.4129G>C	NM_015559.3	NP_056374.2:p.(Val1377Leu)	NC_000018.9:g.42618578G>C	(Likely) benign	2 labs	ca60431912
17:59876603 BRIP1 C>A	17	59876603	59876603	C	A	BRIP1	c.1198G>T	NM_032043.3	NP_114432.2:p.(Asp400Tyr)	NC_000017.10:g.59876603C>A	VUS	2 labs	ca6b017112
1:241682946 FH G>A	1	241682946	241682946	G	A	FH	c.77C>T	NM_000143.4	NP_000134.2:p.(Pro26Leu)	NC_000001.10:g.241682946G>A	(Likely) benign	2 labs	2d06e9f2d2
1:12052716 MFN2 C>T	1	12052716	12052716	C	T	MFN2	c.280C>T	NM_014874.4	NP_055689.1:p.(Arg94Trp)	NC_000001.10:g.12052716C>T	(Likely) pathogenic	3 labs	2b0f951c78
3:195512243 MUC4 G>C	3	195512243	195512243	G	C	MUC4	c.6208C>G	NM_018406.7	NP_060876.5:p.(Pro2070Ala)	NC_000003.11:g.195512243G>C	(Likely) benign	2 labs	cb2f4f40d3
7:92140266 PEX1 T>C	7	92140266	92140266	T	C	PEX1	c.1579A>G	NM_000466.3	NP_000457.1:p.(Thr527Ala)	NC_000007.13:g.92140266T>C	(Likely) benign	4 labs	2b137e60d8
5:131722736 SLC22A5 C>T	5	131722736	131722736	C	T	SLC22A5	c.844C>T	NM_003060.4	NP_003051.1:p.(Arg282Ter)	NC_000005.9:g.131722736C>T	(Likely) pathogenic	2 labs	cb62c742e4
1:241663824 FH C>T	1	241663824	241663824	C	T	FH	c.1303G>A	NM_000143.4	NP_000134.2:p.(Val435Met)	NC_000001.10:g.241663824C>T	VUS	2 labs	cb8fdece99
12:22028630 ABCC9 C>T	12	22028630	22028630	C	T	ABCC9	c.2050G>A	NM_020297.4	NP_064693.2:p.(Gly684Ser)	NC_000012.11:g.22028630C>T	(Likely) benign	5 labs	2b1b928e29
4:1808422 FGFR3 C>T	4	1808422	1808422	C	T	FGFR3	c.2168+12C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808422C>T	(Likely) benign	2 labs	cbbc912dac
3:37059088 MLH1 C>T	3	37059088	37059088	C	T	MLH1	c.882C>T	NM_000249.4	NP_000240.1:p.(Leu294=)	NC_000003.11:g.37059088C>T	(Likely) pathogenic	3 labs	cc170443f4
12:111351034 MYL2 C>T	12	111351034	111351034	C	T	MYL2	c.353+16G>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351034C>T	(Likely) benign	3 labs	2b2d639c89
12:45771901 ANO6 G>GT	12	45771901	45771917	G	GT	ANO6	c.1228+21dup	NM_001204803.2	NP_001191732.1:p.?	NC_000012.11:g.45771917dup	(Likely) benign	2 labs	2b3c48079e
2:228147093 COL4A3 A>G	2	228147093	228147093	A	G	COL4A3	c.2501A>G	NM_000091.4	NP_000082.2:p.(Lys834Arg)	NC_000002.11:g.228147093A>G	(Likely) benign	2 labs	2d220cb640
X:73811792 RLIM C>T	X	73811792	73811792	C	T	RLIM	c.1358G>A	NM_183353.3	NP_899196.1:p.(Ser453Asn)	NC_000023.10:g.73811792C>T	(Likely) benign	2 labs	cc4ee1377a
7:44191943 GCK C>T	7	44191943	44191943	C	T	GCK	c.290G>A	NM_000162.5	NP_000153.1:p.(Gly97Glu)	NC_000007.13:g.44191943C>T	VUS	2 labs	cc62cfa4ea
11:108141889 ATM C>A	11	108141889	108141889	C	A	ATM	c.2921+16C>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141889C>A	(Likely) benign	2 labs	cc76b76a3c
2:238289669 COL6A3 C>A	2	238289669	238289669	C	A	COL6A3	c.1786G>T	NM_004369.4	NP_004360.2:p.(Ala596Ser)	NC_000002.11:g.238289669C>A	(Likely) benign	2 labs	cc7dbd9d13
X:53589090 HUWE1 TTCC>T	X	53589090	53589107	TTCC	T	HUWE1	c.7317_7319del	NM_031407.7	NP_113584.3:p.(Glu2440del)	NC_000023.10:g.53589105_53589107del	(Likely) benign	2 labs	2b4445756e
13:32913773 BRCA2 G>T	13	32913773	32913773	G	T	BRCA2	c.5281G>T	NM_000059.4	NP_000050.3:p.(Gly1761Ter)	NC_000013.10:g.32913773G>T	(Likely) pathogenic	3 labs	2b4c25d24b
6:152787138 SYNE1 A>G	6	152787138	152787138	A	G	SYNE1	c.1708T>C	NM_182961.4	NP_892006.3:p.(Tyr570His)	NC_000006.11:g.152787138A>G	VUS	2 labs	ccd54eb302
5:90041091 ADGRV1 A>G	5	90041091	90041091	A	G	ADGRV1	c.10769+9A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90041091A>G	(Likely) benign	4 labs	2b51eb6bbb
4:1807370 FGFR3 A>G	4	1807370	1807370	A	G	FGFR3	c.1619A>G	NM_000142.5	NP_000133.1:p.(Asn540Ser)	NC_000004.11:g.1807370A>G	(Likely) pathogenic	2 labs	cd2907b563
1:40557075 PPT1 C>T	1	40557075	40557075	C	T	PPT1	c.363-4G>A	NM_000310.4	NP_000301.1:p.?	NC_000001.10:g.40557075C>T	(Likely) benign	3 labs	2b5af12fee
1:200575878 KIF14 A>C	1	200575878	200575878	A	C	KIF14	c.1603T>G	NM_014875.3	NP_055690.1:p.(Ser535Ala)	NC_000001.10:g.200575878A>C	VUS	2 labs	cd76fd452c
1:11850756 MTHFR C>T	1	11850756	11850756	C	T	MTHFR	c.1952G>A	NM_005957.5	NP_005948.3:p.(Arg651Lys)	NC_000001.10:g.11850756C>T	VUS	2 labs	cd7aa1e4d9
13:32903592 BRCA2 A>G	13	32903592	32903592	A	G	BRCA2	c.644A>G	NM_000059.4	NP_000050.3:p.(Glu215Gly)	NC_000013.10:g.32903592A>G	(Likely) benign	2 labs	cd7acb1fa3
2:71797810 DYSF G>A	2	71797810	71797810	G	A	DYSF	c.3167G>A	NM_001130987.2	NP_001124459.1:p.(Arg1056Gln)	NC_000002.11:g.71797810G>A	VUS	2 labs	cd825cd728
9:133948184 LAMC3 G>A	9	133948184	133948184	G	A	LAMC3	c.3379G>A	NM_006059.4	NP_006050.3:p.(Glu1127Lys)	NC_000009.11:g.133948184G>A	(Likely) benign	4 labs	2b5cb728af
12:88479860 CEP290 G>A	12	88479860	88479860	G	A	CEP290	c.4393C>T	NM_025114.4	NP_079390.3:p.(Arg1465Ter)	NC_000012.11:g.88479860G>A	(Likely) pathogenic	4 labs	2b63dbe095
3:12645691 RAF1 T>G	3	12645691	12645691	T	G	RAF1	c.778A>C	NM_002880.4	NP_002871.1:p.(Thr260Pro)	NC_000003.11:g.12645691T>G	(Likely) pathogenic	2 labs	cdd3eea202
2:220285182 DES C>A	2	220285182	220285182	C	A	DES	c.736-35C>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220285182C>A	(Likely) benign	2 labs	2d5775333b
17:41258504 BRCA1 A>C	17	41258504	41258504	A	C	BRCA1	c.181T>G	NM_007294.4	NP_009225.1:p.(Cys61Gly)	NC_000017.10:g.41258504A>C	(Likely) pathogenic	7 labs	2b6a0302fa
6:33399974 SYNGAP1 CA>C	6	33399974	33399975	CA	C	SYNGAP1	c.333del	NM_006772.3	NP_006763.2:p.(Lys114SerfsTer20)	NC_000006.11:g.33399975del	(Likely) pathogenic	2 labs	ce13546109
7:70249991 AUTS2 C>T	7	70249991	70249991	C	T	AUTS2	c.2210C>T	NM_015570.4	NP_056385.1:p.(Pro737Leu)	NC_000007.13:g.70249991C>T	VUS	2 labs	ce3b3c1182
12:49427265 KMT2D T>TTGC	12	49427265	49427286	T	TTGC	KMT2D	c.11220_11222dup	NM_003482.4	NP_003473.3:p.(Gln3745dup)	NC_000012.11:g.49427284_49427286dup	(Likely) benign	3 labs	2b6a358a58
13:31722620 HSPH1 TA>T	13	31722620	31722637	TA	T	HSPH1	c.1138-4del	NM_006644.4	NP_006635.2:p.?	NC_000013.10:g.31722637del	(Likely) benign	2 labs	ce4fcce6b9
1:152282007 FLG G>C	1	152282007	152282007	G	C	FLG	c.5355C>G	NM_002016.2	NP_002007.1:p.(Ser1785Arg)	NC_000001.10:g.152282007G>C	(Likely) benign	2 labs	ce81246500
20:61460149 COL9A3 C>T	20	61460149	61460149	C	T	COL9A3	c.934C>T	NM_001853.4	NP_001844.3:p.(Pro312Ser)	NC_000020.10:g.61460149C>T	VUS	2 labs	cf36a0d3d4
2:179642515 TTN A>G	2	179642515	179642515	A	G	TTN	c.4396T>C	NM_001267550.2	NP_001254479.2:p.(Phe1466Leu)	NC_000002.11:g.179642515A>G	(Likely) benign	6 labs	2b78d40bcc
11:125483986 STT3A C>T	11	125483986	125483986	C	T	STT3A	c.1559C>T	NM_152713.5	NP_689926.1:p.(Ala520Val)	NC_000011.9:g.125483986C>T	VUS	2 labs	cf37e0b6f2
9:140707889 EHMT1 G>A	9	140707889	140707889	G	A	EHMT1	c.3087G>A	NM_024757.5	NP_079033.4:p.(Val1029=)	NC_000009.11:g.140707889G>A	(Likely) benign	2 labs	cf4d4006a6
6:126073212 HEY2 T>G	6	126073212	126073212	T	G	HEY2	c.222T>G	NM_012259.3	NP_036391.1:p.(Leu74=)	NC_000006.11:g.126073212T>G	(Likely) benign	3 labs	cf78656b16
17:4804366 CHRNE G>A	17	4804366	4804366	G	A	CHRNE	c.721C>T	NM_000080.4	NP_000071.1:p.(Leu241Phe)	NC_000017.10:g.4804366G>A	(Likely) pathogenic	2 labs	cf93e0ce9f
16:89346547 ANKRD11 GC>G	16	89346547	89346551	GC	G	ANKRD11	c.6402del	NM_013275.6	NP_037407.4:p.(Phe2136SerfsTer39)	NC_000016.9:g.89346551del	(Likely) pathogenic	2 labs	2b8a8bb70c
17:41244520 BRCA1 G>A	17	41244520	41244520	G	A	BRCA1	c.3028C>T	NM_007294.4	NP_009225.1:p.(Pro1010Ser)	NC_000017.10:g.41244520G>A	(Likely) benign	2 labs	cfe75670e5
15:75673050 SIN3A G>C	15	75673050	75673050	G	C	SIN3A	c.3303C>G	NM_001145358.2	NP_001138830.1:p.(Tyr1101Ter)	NC_000015.9:g.75673050G>C	(Likely) pathogenic	2 labs	d0299c90e3
11:108115647 ATM T>C	11	108115647	108115647	T	C	ATM	c.795T>C	NM_000051.4	NP_000042.3:p.(Ile265=)	NC_000011.9:g.108115647T>C	(Likely) benign	3 labs	d036f29bc3
X:31986449 DMD G>A	X	31986449	31986449	G	A	DMD	c.6614+7C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31986449G>A	(Likely) benign	2 labs	2b94f1e031
10:26993597 PDSS1 AT>A	10	26993597	26993601	AT	A	PDSS1	c.163-5del	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.26993601del	(Likely) benign	2 labs	2b971abe63
5:80024783 MSH3 G>A	5	80024783	80024783	G	A	MSH3	c.1567G>A	NM_002439.5	NP_002430.3:p.(Glu523Lys)	NC_000005.9:g.80024783G>A	(Likely) benign	3 labs	2d772d29bb
1:150776679 CTSK C>G	1	150776679	150776679	C	G	CTSK	c.436G>C	NM_000396.4	NP_000387.1:p.(Gly146Arg)	NC_000001.10:g.150776679C>G	(Likely) pathogenic	2 labs	d0cd6499ff
7:50611735 DDC T>C	7	50611735	50611735	T	C	DDC	c.49A>G	NM_001082971.2	NP_001076440.2:p.(Met17Val)	NC_000007.13:g.50611735T>C	(Likely) benign	2 labs	2ba43fb5ba
X:49853406 CLCN5 C>T	X	49853406	49853406	C	T	CLCN5	c.1609C>T	NM_001127898.4	NP_001121370.1:p.(Arg537Ter)	NC_000023.10:g.49853406C>T	(Likely) pathogenic	2 labs	d1497148b9
14:58943963 KIAA0586 A>C	14	58943963	58943963	A	C	KIAA0586	c.2944+4A>C	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.58943963A>C	VUS	2 labs	d16f9d4df2
15:99192881 IGF1R C>G	15	99192881	99192881	C	G	IGF1R	c.71C>G	NM_000875.5	NP_000866.1:p.(Ser24Trp)	NC_000015.9:g.99192881C>G	VUS	2 labs	d1747218d4
12:33031350 PKP2 C>G	12	33031350	33031350	C	G	PKP2	c.464G>C	NM_004572.4	NP_004563.2:p.(Ser155Thr)	NC_000012.11:g.33031350C>G	VUS	4 labs	2baf27768d
9:95477576 BICD2 G>A	9	95477576	95477576	G	A	BICD2	c.2428C>T	NM_001003800.2	NP_001003800.1:p.(Arg810Cys)	NC_000009.11:g.95477576G>A	(Likely) benign	2 labs	d17d137c35
2:47707941 MSH2 G>T	2	47707941	47707941	G	T	MSH2	c.2565G>T	NM_000251.3	NP_000242.1:p.(Gln855His)	NC_000002.11:g.47707941G>T	(Likely) benign	2 labs	d210b0d98b
2:48032123 MSH6 T>TA	2	48032123	48032124	T	TA	MSH6	c.3514dup	NM_000179.3	NP_000170.1:p.(Arg1172LysfsTer5)	NC_000002.11:g.48032124dup	(Likely) pathogenic	3 labs	2bb5121315
15:29561120 NSMCE3 G>A	15	29561120	29561120	G	A	NSMCE3	c.790C>T	NM_138704.4	NP_619649.1:p.(Leu264Phe)	NC_000015.9:g.29561120G>A	(Likely) pathogenic	2 labs	2bb8ac700a
11:108206648 ATM C>T	11	108206648	108206648	C	T	ATM	c.8228C>T	NM_000051.4	NP_000042.3:p.(Thr2743Met)	NC_000011.9:g.108206648C>T	VUS	2 labs	d22dbe03f4
7:91855846 KRIT1 C>T	7	91855846	91855846	C	T	KRIT1	c.1140G>A	NM_194455.1	NP_919437.1:p.(Thr380=)	NC_000007.13:g.91855846C>T	(Likely) benign	2 labs	d22eab9f19
19:16601194 CALR3 C>T	19	16601194	16601194	C	T	CALR3	c.381G>A	NM_145046.5	NP_659483.2:p.(Gln127=)	NC_000019.9:g.16601194C>T	(Likely) benign	4 labs	2bb901b32f
2:179577678 TTN G>A	2	179577678	179577678	G	A	TTN	c.27074C>T	NM_001267550.2	NP_001254479.2:p.(Pro9025Leu)	NC_000002.11:g.179577678G>A	VUS	3 labs	2bb956d847
11:95571347 MTMR2 C>G	11	95571347	95571347	C	G	MTMR2	c.1288G>C	NM_001243571.2	NP_001230500.1:p.(Glu430Gln)	NC_000011.9:g.95571347C>G	(Likely) benign	2 labs	2db16c092a
15:43023163 CDAN1 G>C	15	43023163	43023163	G	C	CDAN1	c.1967C>G	NM_138477.4	NP_612486.2:p.(Thr656Ser)	NC_000015.9:g.43023163G>C	(Likely) benign	2 labs	d286e30e67
7:92732725 SAMD9 A>G	7	92732725	92732725	A	G	SAMD9	c.2686T>C	NM_017654.4	NP_060124.2:p.(Tyr896His)	NC_000007.13:g.92732725A>G	VUS	2 labs	2bd056f9f2
10:124221245 HTRA1 G>A	10	124221245	124221245	G	A	HTRA1	c.77G>A	NM_002775.5	NP_002766.1:p.(Arg26Gln)	NC_000010.10:g.124221245G>A	(Likely) benign	2 labs	d2dc9e4859
10:16918923 CUBN C>T	10	16918923	16918923	C	T	CUBN	c.9079G>A	NM_001081.3	NP_001072.2:p.(Gly3027Arg)	NC_000010.10:g.16918923C>T	(Likely) pathogenic	2 labs	2dc74a68ee
11:46916179 LRP4 T>G	11	46916179	46916179	T	G	LRP4	c.1501A>C	NM_002334.3	NP_002325.2:p.(Asn501His)	NC_000011.9:g.46916179T>G	(Likely) benign	2 labs	2dcd05fa1f
2:170030506 LRP2 C>T	2	170030506	170030506	C	T	LRP2	c.10937G>A	NM_004525.3	NP_004516.2:p.(Arg3646His)	NC_000002.11:g.170030506C>T	(Likely) benign	4 labs	2bd2589501
10:8100647 GATA3 C>T	10	8100647	8100647	C	T	GATA3	c.621C>T	NM_001002295.2	NP_001002295.1:p.(Ala207=)	NC_000010.10:g.8100647C>T	(Likely) benign	2 labs	d3983d15c5
6:157511204 ARID1B C>T	6	157511204	157511204	C	T	ARID1B	c.1592C>T	NM_001363725.2	NP_001350654.1:p.(Ser531Leu)	NC_000006.11:g.157511204C>T	VUS	2 labs	d39dd126f5
9:98209583 PTCH1 G>A	9	98209583	98209583	G	A	PTCH1	c.3955C>T	NM_000264.5	NP_000255.2:p.(Arg1319Cys)	NC_000009.11:g.98209583G>A	VUS	2 labs	2bdd80c1fb
12:49434980 KMT2D C>T	12	49434980	49434980	C	T	KMT2D	c.6573G>A	NM_003482.4	NP_003473.3:p.(Thr2191=)	NC_000012.11:g.49434980C>T	(Likely) benign	4 labs	2be6b8e8fb
4:79455733 FRAS1 C>T	4	79455733	79455733	C	T	FRAS1	c.11056C>T	NM_025074.7	NP_079350.5:p.(Leu3686=)	NC_000004.11:g.79455733C>T	(Likely) benign	2 labs	2be737d989
17:41257134 BRCA1 T>C	17	41257134	41257134	T	C	BRCA1	c.213-161A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41257134T>C	(Likely) benign	2 labs	3769b40be2
16:88782090 PIEZO1 C>CCTCCAG	16	88782090	88782106	C	CCTCCAG	PIEZO1	c.7483_7488dup	NM_001142864.4	NP_001136336.2:p.(Leu2495_Glu2496dup)	NC_000016.9:g.88782101_88782106dup	(Likely) pathogenic	2 labs	2bea6a089b
1:201043717 CACNA1S G>A	1	201043717	201043717	G	A	CACNA1S	c.1980C>T	NM_000069.3	NP_000060.2:p.(Ala660=)	NC_000001.10:g.201043717G>A	(Likely) benign	2 labs	d466413da2
7:6017260 PMS2 G>A	7	6017260	6017260	G	A	PMS2	c.2404C>T	NM_000535.7	NP_000526.2:p.(Arg802Ter)	NC_000007.13:g.6017260G>A	(Likely) pathogenic	2 labs	d4ab512092
1:74929170 TNNI3K T>C	1	74929170	74929170	T	C	TNNI3K	c.2057T>C	NM_015978.3	NP_057062.1:p.(Ile686Thr)	NC_000001.10:g.74929170T>C	(Likely) benign	2 labs	d4d043127e
19:36341962 NPHS1 C>G	19	36341962	36341962	C	G	NPHS1	c.427G>C	NM_004646.4	NP_004637.1:p.(Glu143Gln)	NC_000019.9:g.36341962C>G	VUS	2 labs	d4e9f29ddc
15:85400103 ALPK3 T>G	15	85400103	85400103	T	G	ALPK3	c.2134T>G	NM_020778.5	NP_065829.4:p.(Ser712Ala)	NC_000015.9:g.85400103T>G	VUS	2 labs	2bf5182377
19:38934237 RYR1 C>T	19	38934237	38934237	C	T	RYR1	c.310C>T	NM_000540.3	NP_000531.2:p.(His104Tyr)	NC_000019.9:g.38934237C>T	VUS	2 labs	d50379220c
14:68265135 ZFYVE26 G>A	14	68265135	68265135	G	A	ZFYVE26	c.1844C>T	NM_015346.4	NP_056161.2:p.(Ser615Phe)	NC_000014.8:g.68265135G>A	(Likely) benign	2 labs	d51c8b13da
13:32972745 BRCA2 C>CT	13	32972745	32972746	C	CT	BRCA2	c.10095_10096insT	NM_000059.4	NP_000050.3:p.(Ser3366Ter)	NC_000013.10:g.32972745_32972746insT	VUS	2 labs	2bfcb98a53
22:21347143 LZTR1 G>A	22	21347143	21347143	G	A	LZTR1	c.1210G>A	NM_006767.4	NP_006758.2:p.(Gly404Arg)	NC_000022.10:g.21347143G>A	(Likely) pathogenic	2 labs	d54b149b4c
19:38964358 RYR1 C>T	19	38964358	38964358	C	T	RYR1	c.4107C>T	NM_000540.3	NP_000531.2:p.(Pro1369=)	NC_000019.9:g.38964358C>T	(Likely) benign	2 labs	d58872250e
2:179458059 TTN C>T	2	179458059	179458059	C	T	TTN	c.58876G>A	NM_001267550.2	NP_001254479.2:p.(Ala19626Thr)	NC_000002.11:g.179458059C>T	VUS	2 labs	2c078353da
19:7606908 PNPLA6 G>C	19	7606908	7606908	G	C	PNPLA6	c.1234G>C	NM_001166111.2	NP_001159583.1:p.(Ala412Pro)	NC_000019.9:g.7606908G>C	(Likely) benign	3 labs	2c09392b52
13:23894759 SGCG T>G	13	23894759	23894759	T	G	SGCG	c.579-17T>G	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894759T>G	(Likely) benign	2 labs	d5bbba040f
1:201035071 CACNA1S G>A	1	201035071	201035071	G	A	CACNA1S	c.2748C>T	NM_000069.3	NP_000060.2:p.(His916=)	NC_000001.10:g.201035071G>A	(Likely) benign	2 labs	d5d3160f6d
1:152284424 FLG G>C	1	152284424	152284424	G	C	FLG	c.2938C>G	NM_002016.2	NP_002007.1:p.(His980Asp)	NC_000001.10:g.152284424G>C	(Likely) benign	2 labs	d5ed2ff31b
3:4856234 ITPR1 G>A	3	4856234	4856234	G	A	ITPR1	c.7644G>A	NM_001168272.2	NP_001161744.1:p.(Lys2548=)	NC_000003.11:g.4856234G>A	(Likely) benign	3 labs	2c11dd1b9c
2:220286062 DES A>G	2	220286062	220286062	A	G	DES	c.1024A>G	NM_001927.4	NP_001918.3:p.(Asn342Asp)	NC_000002.11:g.220286062A>G	(Likely) pathogenic	2 labs	d66e6d347c
9:26925831 PLAA A>T	9	26925831	26925831	A	T	PLAA	c.861T>A	NM_001031689.3	NP_001026859.1:p.(Val287=)	NC_000009.11:g.26925831A>T	(Likely) pathogenic	2 labs	2c1646caa4
18:19353668 MIB1 C>T	18	19353668	19353668	C	T	MIB1	c.615C>T	NM_020774.4	NP_065825.1:p.(Tyr205=)	NC_000018.9:g.19353668C>T	(Likely) benign	2 labs	2e2302eee3
12:6125417 VWF T>G	12	6125417	6125417	T	G	VWF	c.5312-19A>C	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6125417T>G	(Likely) benign	2 labs	2e2830ec70
2:8946393 KIDINS220 ATACT>A	2	8946393	8946400	ATACT	A	KIDINS220	c.603+4_603+7del	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8946397_8946400del	VUS	2 labs	d6c1cca483
2:179443562 TTN G>A	2	179443562	179443562	G	A	TTN	c.68195C>T	NM_001267550.2	NP_001254479.2:p.(Ser22732Leu)	NC_000002.11:g.179443562G>A	(Likely) benign	2 labs	d6fd504306
15:89414625 ACAN G>A	15	89414625	89414625	G	A	ACAN	c.7073G>A	NM_001369268.1	NP_001356197.1:p.(Cys2358Tyr)	NC_000015.9:g.89414625G>A	VUS	2 labs	d70901fe1f
17:48245014 SGCA C>T	17	48245014	48245014	C	T	SGCA	c.229C>T	NM_000023.4	NP_000014.1:p.(Arg77Cys)	NC_000017.10:g.48245014C>T	(Likely) pathogenic	2 labs	d73c4f97bf
7:40085606 CDK13 A>G	7	40085606	40085606	A	G	CDK13	c.2525A>G	NM_003718.5	NP_003709.3:p.(Asn842Ser)	NC_000007.13:g.40085606A>G	(Likely) pathogenic	5 labs	2c2b5e4faf
4:1805399 FGFR3 G>A	4	1805399	1805399	G	A	FGFR3	c.931-20G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1805399G>A	(Likely) benign	2 labs	d755ac7615
19:38987491 RYR1 C>T	19	38987491	38987491	C	T	RYR1	c.6797-9C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38987491C>T	(Likely) benign	2 labs	d75fa7910f
8:63978501 TTPA T>TAA	8	63978501	63978502	T	TAA	TTPA	c.513_514insTT	NM_000370.3	NP_000361.1:p.(Thr172LeufsTer5)	NC_000008.10:g.63978501_63978502insAA	(Likely) pathogenic	2 labs	d7af97d685
17:48244792 SGCA G>A	17	48244792	48244792	G	A	SGCA	c.101G>A	NM_000023.4	NP_000014.1:p.(Arg34His)	NC_000017.10:g.48244792G>A	(Likely) pathogenic	2 labs	d7e8b3d61c
X:110388083 PAK3 T>C	X	110388083	110388083	T	C	PAK3	c.276+2659T>C	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110388083T>C	(Likely) benign	3 labs	2c3ce42985
11:71146861 DHCR7 C>T	11	71146861	71146861	C	T	DHCR7	c.988G>A	NM_001360.3	NP_001351.2:p.(Val330Met)	NC_000011.9:g.71146861C>T	VUS	2 labs	d85a2480bd
7:6035165 PMS2 C>A	7	6035165	6035165	C	A	PMS2	c.903G>T	NM_000535.7	NP_000526.2:p.(Lys301Asn)	NC_000007.13:g.6035165C>A	(Likely) pathogenic	2 labs	d887927975
11:108218110 ATM T>C	11	108218110	108218110	T	C	ATM	c.8671+18T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108218110T>C	(Likely) benign	3 labs	d89e3daac1
2:73676847 ALMS1 TCAGA>T	2	73676847	73676854	TCAGA	T	ALMS1	c.3200_3203del	NM_015120.4	NP_055935.4:p.(Asp1067ValfsTer8)	NC_000002.11:g.73676851_73676854del	(Likely) pathogenic	2 labs	2e5652a01e
2:228012127 COL4A4 AC>A	2	228012127	228012129	AC	A	COL4A4	c.71+1del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.228012129del	(Likely) pathogenic	2 labs	d8e8892f9f
9:35808791 NPR2 G>A	9	35808791	35808791	G	A	NPR2	c.2927G>A	NM_003995.4	NP_003986.2:p.(Arg976His)	NC_000009.11:g.35808791G>A	VUS	2 labs	d8fd6630e4
1:200635618 DDX59 C>G	1	200635618	200635618	C	G	DDX59	c.251G>C	NM_001031725.5	NP_001026895.2:p.(Ser84Thr)	NC_000001.10:g.200635618C>G	(Likely) benign	2 labs	2e6e36a227
12:80660254 OTOGL C>CTG	12	80660254	80660257	C	CTG	OTOGL	c.2250_2251dup	NM_001378609.3	NP_001365538.2:p.(Tyr751CysfsTer80)	NC_000012.11:g.80660256_80660257dup	(Likely) pathogenic	2 labs	d9cdcb55b5
7:6013085 PMS2 TG>T	7	6013085	6013089	TG	T	PMS2	c.2533del	NM_000535.7	NP_000526.2:p.(His845MetfsTer6)	NC_000007.13:g.6013089del	(Likely) pathogenic	2 labs	d9d76dc6ad
4:3487322 DOK7 G>A	4	3487322	3487322	G	A	DOK7	c.589G>A	NM_173660.5	NP_775931.3:p.(Asp197Asn)	NC_000004.11:g.3487322G>A	(Likely) benign	2 labs	da1c519138
13:32913836 BRCA2 CAA>C	13	32913836	32913843	CAA	C	BRCA2	c.5350_5351del	NM_000059.4	NP_000050.3:p.(Asn1784HisfsTer2)	NC_000013.10:g.32913842_32913843del	(Likely) pathogenic	4 labs	2c5da24076
20:34053890 CEP250 C>T	20	34053890	34053890	C	T	CEP250	c.353C>T	NM_007186.6	NP_009117.2:p.(Thr118Ile)	NC_000020.10:g.34053890C>T	(Likely) benign	2 labs	da1ea30a0f
14:88459448 GALC C>G	14	88459448	88459448	C	G	GALC	c.61G>C	NM_000153.4	NP_000144.2:p.(Ala21Pro)	NC_000014.8:g.88459448C>G	(Likely) benign	3 labs	2c69b6cd55
2:74140693 ACTG2 G>A	2	74140693	74140693	G	A	ACTG2	c.533G>A	NM_001615.4	NP_001606.1:p.(Arg178His)	NC_000002.11:g.74140693G>A	(Likely) pathogenic	2 labs	da63449fb2
1:158626378 SPTA1 C>T	1	158626378	158626378	C	T	SPTA1	c.2874G>A	NM_003126.4	NP_003117.2:p.(Leu958=)	NC_000001.10:g.158626378C>T	(Likely) benign	2 labs	2c77daf8f6
17:41226379 BRCA1 C>T	17	41226379	41226379	C	T	BRCA1	c.4644G>A	NM_007294.4	NP_009225.1:p.(Thr1548=)	NC_000017.10:g.41226379C>T	(Likely) benign	3 labs	2c7922a11b
10:112572473 RBM20 A>G	10	112572473	112572473	A	G	RBM20	c.2318A>G	NM_001134363.3	NP_001127835.2:p.(Lys773Arg)	NC_000010.10:g.112572473A>G	(Likely) benign	4 labs	da7b328f7b
X:100497889 DRP2 A>G	X	100497889	100497889	A	G	DRP2	c.976-4A>G	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100497889A>G	(Likely) benign	2 labs	db2619fe67
1:151381274 POGZ G>A	1	151381274	151381274	G	A	POGZ	c.1957C>T	NM_015100.4	NP_055915.2:p.(Arg653Trp)	NC_000001.10:g.151381274G>A	VUS	2 labs	db70eaf90f
18:47101796 LIPG C>T	18	47101796	47101796	C	T	LIPG	c.629C>T	NM_006033.4	NP_006024.1:p.(Pro210Leu)	NC_000018.9:g.47101796C>T	VUS	2 labs	da8c9fff54
17:10559406 MYH3 C>T	17	10559406	10559406	C	T	MYH3	c.-9+1G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10559406C>T	(Likely) pathogenic	2 labs	db8a93bea0
16:1576655 IFT140 G>A	16	1576655	1576655	G	A	IFT140	c.2542C>T	NM_014714.4	NP_055529.2:p.(Arg848Cys)	NC_000016.9:g.1576655G>A	VUS	2 labs	dbb9523594
18:57136743 CCBE1 C>T	18	57136743	57136743	C	T	CCBE1	c.362G>A	NM_133459.4	NP_597716.1:p.(Arg121Gln)	NC_000018.9:g.57136743C>T	VUS	2 labs	dbb924eb5f
2:238296655 COL6A3 G>A	2	238296655	238296655	G	A	COL6A3	c.882C>T	NM_004369.4	NP_004360.2:p.(Phe294=)	NC_000002.11:g.238296655G>A	(Likely) benign	2 labs	dbd25f2529
20:52774675 CYP24A1 G>A	20	52774675	52774675	G	A	CYP24A1	c.1186C>T	NM_000782.5	NP_000773.2:p.(Arg396Trp)	NC_000020.10:g.52774675G>A	(Likely) pathogenic	2 labs	dbe67d06cf
2:179393621 TTN G>A	2	179393621	179393621	G	A	TTN	c.106857C>T	NM_001267550.2	NP_001254479.2:p.(Asn35619=)	NC_000002.11:g.179393621G>A	(Likely) benign	3 labs	d966621b4a
11:46914583 LRP4 T>C	11	46914583	46914583	T	C	LRP4	c.1638A>G	NM_002334.4	NP_002325.2:p.(Lys546=)	NC_000011.9:g.46914583T>C	(Likely) benign	2 labs	d96731575d
22:50964236 SCO2 G>A	22	50964236	50964236	G	A	SCO2	c.-14+439C>T	NM_001169109.2	NP_001162580.1:p.?	NC_000022.10:g.50964236G>A	(Likely) benign	2 labs	2e994e55f0
11:6661170 DCHS1 C>A	11	6661170	6661170	C	A	DCHS1				NC_000011.9:g.6661170C>A	(Likely) benign	2 labs	ddb1d124ba
11:108165634 ATM A>G	11	108165634	108165634	A	G	ATM	c.4777-20A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108165634A>G	(Likely) benign	3 labs	dceec0f034
3:37048539 MLH1 A>G	3	37048539	37048539	A	G	MLH1	c.438A>G	NM_000249.4	NP_000240.1:p.(Gln146=)	NC_000003.11:g.37048539A>G	(Likely) benign	2 labs	dcff997726
19:18001707 SLC5A5 G>A	19	18001707	18001707	G	A	SLC5A5	c.1664G>A	NM_000453.3	NP_000444.1:p.(Arg555His)	NC_000019.9:g.18001707G>A	VUS	2 labs	dd1508680c
1:3328660 PRDM16 TGACAAG>T	1	3328660	3328673	TGACAAG	T	PRDM16	c.1907_1912del	NM_022114.4	NP_071397.3:p.(Asp636_Lys637del)	NC_000001.10:g.3328668_3328673del	VUS	2 labs	dd6d718d69
5:90070066 ADGRV1 C>T	5	90070066	90070066	C	T	ADGRV1	c.12349C>T	NM_032119.4	NP_115495.3:p.(Arg4117Cys)	NC_000005.9:g.90070066C>T	(Likely) benign	2 labs	2ec4d6dc4b
3:48608375 COL7A1 G>T	3	48608375	48608375	G	T	COL7A1	c.7191C>A	NM_000094.4	NP_000085.1:p.(Pro2397=)	NC_000003.11:g.48608375G>T	(Likely) benign	2 labs	dd9920a6fb
12:110232246 TRPV4 C>T	12	110232246	110232246	C	T	TRPV4	c.1379G>A	NM_021625.5	NP_067638.3:p.(Arg460Gln)	NC_000012.11:g.110232246C>T	VUS	3 labs	dd952d87a8
1:20411332 PLA2G5 C>T	1	20411332	20411332	C	T	PLA2G5	c.9C>T	NM_000929.3	NP_000920.1:p.(Gly3=)	NC_000001.10:g.20411332C>T	(Likely) benign	2 labs	d980f7c2fb
16:55536727 MMP2 C>T	16	55536727	55536727	C	T	MMP2	c.1806C>T	NM_004530.6	NP_004521.1:p.(Phe602=)	NC_000016.9:g.55536727C>T	(Likely) benign	2 labs	d98616f3e1
4:79461956 FRAS1 T>C	4	79461956	79461956	T	C	FRAS1	c.11717T>C	NM_025074.7	NP_079350.5:p.(Ile3906Thr)	NC_000004.11:g.79461956T>C	(Likely) benign	2 labs	2ed17bb720
2:179452062 TTN G>A	2	179452062	179452062	G	A	TTN	c.63876C>T	NM_001267550.2	NP_001254479.2:p.(Asn21292=)	NC_000002.11:g.179452062G>A	(Likely) benign	4 labs	d987ec8b52
2:179495000 TTN T>C	2	179495000	179495000	T	C	TTN	c.44249A>G	NM_001267550.2	NP_001254479.2:p.(Asn14750Ser)	NC_000002.11:g.179495000T>C	VUS	2 labs	d98ad51e4f
X:48542816 WAS A>AC	X	48542816	48542823	A	AC	WAS	c.273+11dup	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48542823dup	(Likely) benign	2 labs	de88e031a1
19:38976629 RYR1 G>T	19	38976629	38976629	G	T	RYR1	c.5334G>T	NM_000540.3	NP_000531.2:p.(Ser1778=)	NC_000019.9:g.38976629G>T	(Likely) benign	2 labs	de94128738
17:41242963 BRCA1 G>A	17	41242963	41242963	G	A	BRCA1	c.4183C>T	NM_007294.4	NP_009225.1:p.(Gln1395Ter)	NC_000017.10:g.41242963G>A	(Likely) pathogenic	4 labs	d98f301041
2:189875450 COL3A1 G>A	2	189875450	189875450	G	A	COL3A1	c.4088G>A	NM_000090.4	NP_000081.2:p.(Arg1363Gln)	NC_000002.11:g.189875450G>A	VUS	2 labs	df6765927c
2:1652088 PXDN G>T	2	1652088	1652088	G	T	PXDN	c.3464C>A	NM_012293.3	NP_036425.1:p.(Ala1155Glu)	NC_000002.11:g.1652088G>T	VUS	2 labs	df6c092e42
X:39933809 BCOR G>A	X	39933809	39933809	G	A	BCOR	c.790C>T	NM_001123385.2	NP_001116857.1:p.(Pro264Ser)	NC_000023.10:g.39933809G>A	VUS	2 labs	df8f198ad2
22:21346071 LZTR1 G>A	22	21346071	21346071	G	A	LZTR1	c.946G>A	NM_006767.4	NP_006758.2:p.(Val316Met)	NC_000022.10:g.21346071G>A	VUS	2 labs	df9217ba2e
2:71827836 DYSF CA>C	2	71827836	71827837	CA	C	DYSF	c.3762del	NM_001130987.2	NP_001124459.1:p.(Asp1255ThrfsTer24)	NC_000002.11:g.71827837del	(Likely) pathogenic	2 labs	dfc23cd2e6
3:133692614 SLCO2A1 C>T	3	133692614	133692614	C	T	SLCO2A1	c.290G>A	NM_005630.3	NP_005621.2:p.(Arg97His)	NC_000003.11:g.133692614C>T	(Likely) pathogenic	2 labs	dfc3459f69
11:76885947 MYO7A C>T	11	76885947	76885947	C	T	MYO7A	c.2081C>T	NM_000260.4	NP_000251.3:p.(Pro694Leu)	NC_000011.9:g.76885947C>T	VUS	2 labs	dfeeb6ebba
8:55370796 SOX17 C>A	8	55370796	55370796	C	A	SOX17	c.98C>A	NM_022454.4	NP_071899.1:p.(Ala33Asp)	NC_000008.10:g.55370796C>A	(Likely) benign	2 labs	2c9fa56e61
13:23905855 SACS G>A	13	23905855	23905855	G	A	SACS	c.12160C>T	NM_014363.6	NP_055178.3:p.(Gln4054Ter)	NC_000013.10:g.23905855G>A	(Likely) pathogenic	2 labs	2cab66e20c
13:32900655 BRCA2 A>AT	13	32900655	32900656	A	AT	BRCA2	c.537dup	NM_000059.4	NP_000050.3:p.(Ile180TyrfsTer3)	NC_000013.10:g.32900656dup	(Likely) pathogenic	2 labs	e04eb189c5
16:56917953 SLC12A3 T>C	16	56917953	56917953	T	C	SLC12A3	c.1670-8T>C	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56917953T>C	(Likely) benign	3 labs	2cb636d1e8
3:30732970 TGFBR2 G>A	3	30732970	30732970	G	A	TGFBR2	c.1583G>A	NM_003242.6	NP_003233.4:p.(Arg528His)	NC_000003.11:g.30732970G>A	(Likely) pathogenic	2 labs	2cb72107b9
13:32907499 BRCA2 A>C	13	32907499	32907499	A	C	BRCA2	c.1884A>C	NM_000059.4	NP_000050.3:p.(Pro628=)	NC_000013.10:g.32907499A>C	(Likely) benign	2 labs	e0bf6d16fb
7:91735023 AKAP9 G>C	7	91735023	91735023	G	C	AKAP9	c.11362G>C	NM_005751.5	NP_005742.4:p.(Val3788Leu)	NC_000007.13:g.91735023G>C	(Likely) benign	2 labs	2cc3304fe2
7:47925485 PKD1L1 T>G	7	47925485	47925485	T	G	PKD1L1	c.3004A>C	NM_138295.5	NP_612152.1:p.(Thr1002Pro)	NC_000007.13:g.47925485T>G	(Likely) benign	2 labs	e10bd9376d
13:48547467 SUCLA2 A>T	13	48547467	48547467	A	T	SUCLA2	c.595T>A	NM_003850.3	NP_003841.1:p.(Ser199Thr)	NC_000013.10:g.48547467A>T	(Likely) benign	2 labs	2cc82c31f6
15:69729049 KIF23 T>C	15	69729049	69729049	T	C	KIF23	c.1585T>C	NM_001367805.3	NP_001354734.1:p.(Phe529Leu)	NC_000015.9:g.69729049T>C	(Likely) benign	2 labs	e13b1f3d53
22:25627692 CRYBB2 C>T	22	25627692	25627692	C	T	CRYBB2	c.571C>T	NM_000496.3	NP_000487.1:p.(Arg191Cys)	NC_000022.10:g.25627692C>T	VUS	2 labs	e154123a8b
X:99663134 PCDH19 G>C	X	99663134	99663134	G	C	PCDH19	c.462C>G	NM_001184880.2	NP_001171809.1:p.(Tyr154Ter)	NC_000023.10:g.99663134G>C	(Likely) pathogenic	2 labs	2f1ac3da51
15:93486168 CHD2 C>T	15	93486168	93486168	C	T	CHD2	c.922C>T	NM_001271.4	NP_001262.3:p.(Leu308Phe)	NC_000015.9:g.93486168C>T	VUS	2 labs	e191935ebb
16:89348606 ANKRD11 A>G	16	89348606	89348606	A	G	ANKRD11	c.4344T>C	NM_013275.6	NP_037407.4:p.(Tyr1448=)	NC_000016.9:g.89348606A>G	(Likely) benign	2 labs	e1b169ef46
2:131356322 CFC1 C>T	2	131356322	131356322	C	T	CFC1	c.140G>A	NM_032545.4	NP_115934.1:p.(Arg47Gln)	NC_000002.11:g.131356322C>T	(Likely) benign	2 labs	e1b74899a4
11:57381989 SERPING1 G>A	11	57381989	57381989	G	A	SERPING1	c.1438G>A	NM_000062.3	NP_000053.2:p.(Val480Met)	NC_000011.9:g.57381989G>A	(Likely) benign	3 labs	2cdcabf6be
1:235600773 TBCE C>T	1	235600773	235600773	C	T	TBCE	c.1100C>T	NM_003193.5	NP_003184.1:p.(Thr367Met)	NC_000001.10:g.235600773C>T	(Likely) benign	2 labs	e1f5fbc911
8:145737630 RECQL4 C>T	8	145737630	145737630	C	T	RECQL4	c.3133G>A	NM_004260.3	NP_004251.3:p.(Ala1045Thr)	NC_000008.10:g.145737630C>T	(Likely) benign	2 labs	2f32ecb07b
16:2155853 PKD1 A>G	16	2155853	2155853	A	G	PKD1	c.7863+13T>C	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2155853A>G	(Likely) benign	2 labs	2f3b7f83bd
13:32936658 BRCA2 A>G	13	32936658	32936658	A	G	BRCA2	c.7806-2A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936658A>G	(Likely) pathogenic	2 labs	2f3ce2c956
11:6630124 ILK A>G	11	6630124	6630124	A	G	ILK	c.458A>G	NM_004517.4	NP_004508.1:p.(Glu153Gly)	NC_000011.9:g.6630124A>G	VUS	2 labs	e26d35cb02
16:23641408 PALB2 C>T	16	23641408	23641408	C	T	PALB2	c.2067G>A	NM_024675.4	NP_078951.2:p.(Ser689=)	NC_000016.9:g.23641408C>T	(Likely) benign	2 labs	e29a624b29
6:70944257 COL9A1 T>C	6	70944257	70944257	T	C	COL9A1	c.2299A>G	NM_001851.6	NP_001842.3:p.(Met767Val)	NC_000006.11:g.70944257T>C	(Likely) benign	2 labs	e310854aae
1:236925828 ACTN2 G>C	1	236925828	236925828	G	C	ACTN2	c.2594G>C	NM_001103.4	NP_001094.1:p.(Arg865Thr)	NC_000001.10:g.236925828G>C	VUS	2 labs	e31eaecbe2
19:18899045 COMP G>T	19	18899045	18899045	G	T	COMP	c.951C>A	NM_000095.3	NP_000086.2:p.(Asp317Glu)	NC_000019.9:g.18899045G>T	VUS	2 labs	e33daacce3
3:33114106 GLB1 G>A	3	33114106	33114106	G	A	GLB1	c.175C>T	NM_000404.4	NP_000395.3:p.(Arg59Cys)	NC_000003.11:g.33114106G>A	(Likely) pathogenic	2 labs	e3ae4e9763
14:23886706 MYH7 G>A	14	23886706	23886706	G	A	MYH7	c.4353+6C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886706G>A	(Likely) benign	2 labs	2f698ec080
12:110236628 TRPV4 G>A	12	110236628	110236628	G	A	TRPV4	c.943C>T	NM_021625.5	NP_067638.3:p.(Arg315Trp)	NC_000012.11:g.110236628G>A	(Likely) pathogenic	2 labs	e3bc91f0e5
13:32906781 BRCA2 C>A	13	32906781	32906781	C	A	BRCA2	c.1166C>A	NM_000059.4	NP_000050.3:p.(Pro389Gln)	NC_000013.10:g.32906781C>A	(Likely) benign	2 labs	e3c1eafdd4
11:686881 DEAF1 G>A	11	686881	686881	G	A	DEAF1	c.781C>T	NM_021008.4	NP_066288.2:p.(Arg261Ter)	NC_000011.9:g.686881G>A	(Likely) pathogenic	2 labs	e3ed61c4fc
16:23641115 PALB2 G>A	16	23641115	23641115	G	A	PALB2	c.2360C>T	NM_024675.4	NP_078951.2:p.(Thr787Ile)	NC_000016.9:g.23641115G>A	VUS	2 labs	e3f8bf1fc9
11:117258131 CEP164 C>T	11	117258131	117258131	C	T	CEP164	c.1934+3C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117258131C>T	(Likely) benign	2 labs	2f86bfb200
7:35293193 TBX20 A>G	7	35293193	35293193	A	G	TBX20	c.39T>C	NM_001077653.2	NP_001071121.1:p.(Ser13=)	NC_000007.13:g.35293193A>G	(Likely) benign	4 labs	2cf112d695
2:227922261 COL4A4 T>A	2	227922261	227922261	T	A	COL4A4	c.2439A>T	NM_000092.4	NP_000083.3:p.(Gly813=)	NC_000002.11:g.227922261T>A	(Likely) benign	2 labs	2f880c5171
1:22159838 HSPG2 A>G	1	22159838	22159838	A	G	HSPG2	c.11018T>C	NM_005529.7	NP_005520.4:p.(Phe3673Ser)	NC_000001.10:g.22159838A>G	VUS	2 labs	e4e603f50a
2:216300486 FN1 C>G	2	216300486	216300486	C	G	FN1	c.40G>C	NM_212482.2	NP_997647.1:p.(Val14Leu)	NC_000002.11:g.216300486C>G	(Likely) benign	2 labs	2f9c58ad4e
3:49455330 AMT C>T	3	49455330	49455330	C	T	AMT	c.954G>A	NM_000481.4	NP_000472.2:p.(Arg318=)	NC_000003.11:g.49455330C>T	(Likely) benign	2 labs	2cf85e7e74
13:32914070 BRCA2 A>G	13	32914070	32914070	A	G	BRCA2	c.5578A>G	NM_000059.4	NP_000050.3:p.(Lys1860Glu)	NC_000013.10:g.32914070A>G	(Likely) benign	2 labs	e55e70830c
16:2134631 TSC2 C>T	16	2134631	2134631	C	T	TSC2	c.4408C>T	NM_000548.5	NP_000539.2:p.(Arg1470Cys)	NC_000016.9:g.2134631C>T	VUS	2 labs	2d039bcec8
12:112940026 PTPN11 C>T	12	112940026	112940026	C	T	PTPN11	c.1678C>T	NM_002834.5	NP_002825.3:p.(Leu560Phe)	NC_000012.11:g.112940026C>T	(Likely) benign	2 labs	e5cb285bed
17:41277277 BRCA1 G>A	17	41277277	41277277	G	A	BRCA1	c.-20+11C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277277G>A	(Likely) benign	4 labs	2fae0dab08
9:140128564 SLC34A3 G>A	9	140128564	140128564	G	A	SLC34A3	c.929G>A	NM_080877.2	NP_543153.1:p.(Arg310His)	NC_000009.11:g.140128564G>A	(Likely) benign	2 labs	2fb95bb900
2:47707912 MSH2 C>T	2	47707912	47707912	C	T	MSH2	c.2536C>T	NM_000251.3	NP_000242.1:p.(Gln846Ter)	NC_000002.11:g.47707912C>T	(Likely) pathogenic	2 labs	e605bfbfe4
15:89383370 ACAN C>T	15	89383370	89383370	C	T	ACAN	c.582C>T	NM_001369268.1	NP_001356197.1:p.(Asp194=)	NC_000015.9:g.89383370C>T	(Likely) benign	2 labs	e606a5d2b5
9:14824091 FREM1 ATAAT>A	9	14824091	14824096	ATAAT	A	FREM1	c.2097_2100del	NM_001379081.2	NP_001366010.1:p.(Lys699AsnfsTer10)	NC_000009.11:g.14824093_14824096del	(Likely) pathogenic	2 labs	e60b1d9faf
16:2166128 PKD1 C>A	16	2166128	2166128	C	A	PKD1	c.1723-9G>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2166128C>A	(Likely) benign	2 labs	e63ea19252
6:30889968 VARS2 C>T	6	30889968	30889968	C	T	VARS2	c.1882C>T	NM_020442.6	NP_065175.4:p.(Arg628Cys)	NC_000006.11:g.30889968C>T	VUS	2 labs	e67526e143
2:228115847 COL4A3 A>C	2	228115847	228115847	A	C	COL4A3	c.547-9A>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228115847A>C	(Likely) benign	3 labs	2fc82fbd79
5:90012539 ADGRV1 G>A	5	90012539	90012539	G	A	ADGRV1	c.9440G>A	NM_032119.4	NP_115495.3:p.(Arg3147Gln)	NC_000005.9:g.90012539G>A	VUS	2 labs	e68914221a
17:10426480 MYH2 A>T	17	10426480	10426480	A	T	MYH2	c.5600T>A	NM_017534.6	NP_060004.3:p.(Ile1867Asn)	NC_000017.10:g.10426480A>T	VUS	2 labs	e68decdeaf
2:167145054 SCN9A T>G	2	167145054	167145054	T	G	SCN9A	c.1207A>C	NM_001365536.1	NP_001352465.1:p.(Met403Leu)	NC_000002.11:g.167145054T>G	VUS	2 labs	e6c2d12840
7:128486444 FLNC C>T	7	128486444	128486444	C	T	FLNC	c.4054C>T	NM_001458.5	NP_001449.3:p.(Arg1352Cys)	NC_000007.13:g.128486444C>T	VUS	5 labs	d994e8cfd3
2:228128601 COL4A3 C>A	2	228128601	228128601	C	A	COL4A3	c.1256C>A	NM_000091.5	NP_000082.2:p.(Ser419Tyr)	NC_000002.11:g.228128601C>A	VUS	2 labs	e6d594c913
3:37092019 MLH1 G>A	3	37092019	37092019	G	A	MLH1	c.2146G>A	NM_000249.4	NP_000240.1:p.(Val716Met)	NC_000003.11:g.37092019G>A	(Likely) benign	6 labs	2d14d5ec67
20:62076115 KCNQ2 G>A	20	62076115	62076115	G	A	KCNQ2	c.587C>T	NM_172107.4	NP_742105.1:p.(Ala196Val)	NC_000020.10:g.62076115G>A	(Likely) pathogenic	2 labs	2d1b457c71
20:3063685 AVP G>T	20	3063685	3063685	G	T	AVP	c.260C>A	NM_000490.4	NP_000481.2:p.(Ser87Tyr)	NC_000020.10:g.3063685G>T	(Likely) pathogenic	2 labs	2fe2e452b5
2:109368449 RANBP2 C>T	2	109368449	109368449	C	T	RANBP2	c.1754C>T	NM_006267.5	NP_006258.3:p.(Thr585Met)	NC_000002.11:g.109368449C>T	(Likely) pathogenic	2 labs	2d24cf53db
2:228102723 COL4A3 G>C	2	228102723	228102723	G	C	COL4A3	c.127G>C	NM_000091.4	NP_000082.2:p.(Gly43Arg)	NC_000002.11:g.228102723G>C	(Likely) benign	2 labs	2ff1964578
6:112469407 LAMA4 A>G	6	112469407	112469407	A	G	LAMA4	c.2305T>C	NM_001105206.3	NP_001098676.2:p.(Phe769Leu)	NC_000006.11:g.112469407A>G	VUS	3 labs	2d25487b3c
12:98938798 TMPO A>T	12	98938798	98938798	A	T	TMPO	c.949A>T	NM_001032283.2	NP_001027454.1:p.(Ile317Leu)	NC_000012.11:g.98938798A>T	(Likely) benign	2 labs	2ff6d28bb3
16:89351960 ANKRD11 C>G	16	89351960	89351960	C	G	ANKRD11	c.990G>C	NM_013275.6	NP_037407.4:p.(Lys330Asn)	NC_000016.9:g.89351960C>G	(Likely) benign	2 labs	e7f3b27318
21:47423360 COL6A1 G>A	21	47423360	47423360	G	A	COL6A1	c.2520G>A	NM_001848.3	NP_001839.2:p.(Val840=)	NC_000021.8:g.47423360G>A	(Likely) benign	2 labs	e7fd5ba8c8
19:39003097 RYR1 A>G	19	39003097	39003097	A	G	RYR1	c.9446A>G	NM_000540.3	NP_000531.2:p.(Gln3149Arg)	NC_000019.9:g.39003097A>G	VUS	2 labs	e80cc5e6c7
20:57478856 GNAS A>T	20	57478856	57478856	A	T	GNAS	c.*293+10A>T	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57478856A>T	(Likely) benign	2 labs	e8055c3126
20:18511458 SEC23B C>CT	20	18511458	18511472	C	CT	SEC23B	c.1233+25dup	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18511472dup	(Likely) benign	2 labs	2ffc90d33b
16:2120500 TSC2 A>G	16	2120500	2120500	A	G	TSC2	c.1760A>G	NM_000548.5	NP_000539.2:p.(Tyr587Cys)	NC_000016.9:g.2120500A>G	VUS	2 labs	e846b06f43
1:113460683 SLC16A1 T>G	1	113460683	113460683	T	G	SLC16A1	c.362-17A>C	NM_001166496.1	NP_001159968.1:p.?	NC_000001.10:g.113460683T>G	(Likely) benign	2 labs	3000897921
15:42703150 CAPN3 G>A	15	42703150	42703150	G	A	CAPN3	c.2332G>A	NM_000070.3	NP_000061.1:p.(Asp778Asn)	NC_000015.9:g.42703150G>A	(Likely) benign	2 labs	3000e81fec
17:7127184 ACADVL G>A	17	7127184	7127184	G	A	ACADVL	c.1322G>A	NM_000018.4	NP_000009.1:p.(Gly441Asp)	NC_000017.10:g.7127184G>A	(Likely) pathogenic	2 labs	e8a0ab876c
1:39951233 MACF1 CCTGGGAGTCGGG>C	1	39951233	39951255	CCTGGGAGTCGGG	C	MACF1	c.16071_16082del	NM_012090.5	NP_036222.3:p.(Gly5363_Ala5366del)	NC_000001.10:g.39951244_39951255del	VUS	2 labs	2d4b5788b7
13:32937686 BRCA2 C>G	13	32937686	32937686	C	G	BRCA2	c.8331+16C>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937686C>G	(Likely) benign	6 labs	2d517cd1c2
22:40816430 MRTFA C>T	22	40816430	40816430	C	T	MRTFA	c.1332G>A	NM_001282662.3	NP_001269591.2:p.(Pro444=)	NC_000022.10:g.40816430C>T	(Likely) benign	4 labs	2d59758c00
14:23900990 MYH7 T>G	14	23900990	23900990	T	G	MYH7	c.619A>C	NM_000257.4	NP_000248.2:p.(Lys207Gln)	NC_000014.8:g.23900990T>G	(Likely) pathogenic	2 labs	e93ff8a304
1:237794849 RYR2 C>T	1	237794849	237794849	C	T	RYR2	c.6555+8C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237794849C>T	(Likely) benign	4 labs	2d5e75c54c
1:152284505 FLG C>G	1	152284505	152284505	C	G	FLG	c.2857G>C	NM_002016.2	NP_002007.1:p.(Glu953Gln)	NC_000001.10:g.152284505C>G	(Likely) benign	2 labs	e9617ae122
2:48033468 MSH6 C>T	2	48033468	48033468	C	T	MSH6	c.3772C>T	NM_000179.3	NP_000170.1:p.(Gln1258Ter)	NC_000002.11:g.48033468C>T	(Likely) pathogenic	2 labs	e96d121734
4:77662361 SHROOM3 C>A	4	77662361	77662361	C	A	SHROOM3	c.3035C>A	NM_020859.4	NP_065910.3:p.(Thr1012Asn)	NC_000004.11:g.77662361C>A	(Likely) benign	2 labs	e99fb905d0
17:41246572 BRCA1 C>G	17	41246572	41246572	C	G	BRCA1	c.976G>C	NM_007294.4	NP_009225.1:p.(Glu326Gln)	NC_000017.10:g.41246572C>G	(Likely) benign	2 labs	e9a0e3ae3b
6:152629771 SYNE1 TG>T	6	152629771	152629772	TG	T	SYNE1	c.17203-5del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629772del	(Likely) benign	2 labs	e9d1a95a4e
4:151793903 LRBA T>C	4	151793903	151793903	T	C	LRBA	c.2170A>G	NM_001199282.2	NP_001186211.2:p.(Ile724Val)	NC_000004.11:g.151793903T>C	(Likely) benign	2 labs	30234e1c7c
4:1806655 FGFR3 C>T	4	1806655	1806655	C	T	FGFR3	c.1371C>T	NM_000142.5	NP_000133.1:p.(Leu457=)	NC_000004.11:g.1806655C>T	(Likely) benign	2 labs	e9d4527c6f
2:238283472 COL6A3 T>G	2	238283472	238283472	T	G	COL6A3	c.3262A>C	NM_004369.4	NP_004360.2:p.(Lys1088Gln)	NC_000002.11:g.238283472T>G	(Likely) benign	3 labs	e9e1e0a804
2:179612677 TTN T>G	2	179612677	179612677	T	G	TTN	c.14450A>C	NM_133379.5	NP_596870.2:p.(Gln4817Pro)	NC_000002.11:g.179612677T>G	(Likely) benign	3 labs	ea11ea6655
14:29236932 FOXG1 C>T	14	29236932	29236932	C	T	FOXG1	c.447C>T	NM_005249.5	NP_005240.3:p.(Ala149=)	NC_000014.8:g.29236932C>T	(Likely) benign	4 labs	2d777afbe3
3:10091084 FANCD2 T>C	3	10091084	10091084	T	C	FANCD2	c.1440T>C	NM_033084.6	NP_149075.2:p.(His480=)	NC_000003.11:g.10091084T>C	(Likely) benign	2 labs	3030e5745a
17:40371400 STAT5B ACTGGATCAGCTC>A	17	40371400	40371412	ACTGGATCAGCTC	A	STAT5B	c.751_762del	NM_012448.4	NP_036580.2:p.(Glu251_Gln254del)	NC_000017.10:g.40371401_40371412del	VUS	2 labs	ea822676a4
22:38369976 SOX10 A>G	22	38369976	38369976	A	G	SOX10	c.927T>C	NM_006941.4	NP_008872.1:p.(His309=)	NC_000022.10:g.38369976A>G	(Likely) benign	4 labs	2d857e06f6
21:47423705 COL6A1 C>T	21	47423705	47423705	C	T	COL6A1	c.2865C>T	NM_001848.2	NP_001839.2:p.(Ile955=)	NC_000021.8:g.47423705C>T	(Likely) benign	2 labs	303ca91da2
2:179440208 TTN G>A	2	179440208	179440208	G	A	TTN	c.70651C>T	NM_001267550.2	NP_001254479.2:p.(Leu23551=)	NC_000002.11:g.179440208G>A	(Likely) benign	5 labs	2d885497f5
5:127673704 FBN2 G>A	5	127673704	127673704	G	A	FBN2	c.3583C>T	NM_001999.4	NP_001990.2:p.(Arg1195Cys)	NC_000005.9:g.127673704G>A	VUS	2 labs	eaed7a0503
2:69627594 NFU1 C>A	2	69627594	69627594	C	A	NFU1	c.622G>T	NM_001002755.4	NP_001002755.1:p.(Gly208Cys)	NC_000002.11:g.69627594C>A	(Likely) pathogenic	2 labs	eb1130a467
2:136873084 CXCR4 G>A	2	136873084	136873084	G	A	CXCR4	c.414C>T	NM_003467.3	NP_003458.1:p.(Ile138=)	NC_000002.11:g.136873084G>A	(Likely) benign	2 labs	eb12842f75
8:145741413 RECQL4 C>T	8	145741413	145741413	C	T	RECQL4	c.1090G>A	NM_004260.4	NP_004251.4:p.(Val364Met)	NC_000008.10:g.145741413C>T	(Likely) benign	2 labs	eb716e6b99
9:34647802 GALT G>C	9	34647802	34647802	G	C	GALT	c.378-27G>C	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34647802G>C	(Likely) benign	2 labs	ebbd32652f
11:2604775 KCNQ1 G>A	11	2604775	2604775	G	A	KCNQ1	c.1032G>A	NM_000218.3	NP_000209.2:p.(Ala344=)	NC_000011.9:g.2604775G>A	(Likely) pathogenic	2 labs	ebe288a2c2
2:73680922 ALMS1 A>G	2	73680922	73680922	A	G	ALMS1	c.7271A>G	NM_015120.4	NP_055935.4:p.(Asn2424Ser)	NC_000002.11:g.73680922A>G	(Likely) benign	2 labs	3387cf1f28
1:186273994 PRG4 C>T	1	186273994	186273994	C	T	PRG4	c.538C>T	NM_005807.6	NP_005798.3:p.(Arg180Trp)	NC_000001.10:g.186273994C>T	(Likely) benign	3 labs	2db43ee998
1:196928157 CFHR2 C>T	1	196928157	196928157	C	T	CFHR2	c.760C>T	NM_005666.4	NP_005657.1:p.(Arg254Ter)	NC_000001.10:g.196928157C>T	VUS	2 labs	ec5033a516
10:89720633 PTEN CT>C	10	89720633	89720648	CT	C	PTEN	c.802-3del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720648del	(Likely) benign	4 labs	2db5edd44e
1:100340312 AGL G>A	1	100340312	100340312	G	A	AGL	c.1028G>A	NM_000642.3	NP_000633.2:p.(Arg343Gln)	NC_000001.10:g.100340312G>A	VUS	2 labs	ecb2fd363d
16:81929527 PLCG2 C>G	16	81929527	81929527	C	G	PLCG2	c.1188C>G	NM_002661.5	NP_002652.2:p.(Thr396=)	NC_000016.9:g.81929527C>G	(Likely) benign	3 labs	308955db39
15:51791234 DMXL2 G>A	15	51791234	51791234	G	A	DMXL2	c.4187C>T	NM_001174116.3	NP_001167587.1:p.(Ser1396Phe)	NC_000015.9:g.51791234G>A	VUS	2 labs	2dbe46e2d0
4:77652057 SHROOM3 G>C	4	77652057	77652057	G	C	SHROOM3	c.556G>C	NM_020859.4	NP_065910.3:p.(Gly186Arg)	NC_000004.11:g.77652057G>C	(Likely) benign	2 labs	ed45656382
X:24382373 SUPT20HL1 TTGC>T	X	24382373	24382428	TTGC	T	SUPT20HL1	c.1627_1629del	NM_001136234.2	NP_001129706.2:p.(Ala543del)	NC_000023.10:g.24382426_24382428del	(Likely) benign	2 labs	ed52e9338a
5:147503468 SPINK5 C>T	5	147503468	147503468	C	T	SPINK5	c.2611C>T	NM_006846.4	NP_006837.2:p.(Arg871Ter)	NC_000005.9:g.147503468C>T	(Likely) pathogenic	2 labs	ed5b214cda
11:47371307 MYBPC3 C>T	11	47371307	47371307	C	T	MYBPC3	c.654+18G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371307C>T	(Likely) benign	3 labs	2dc282c2f1
3:46621336 CRIPTO C>G	3	46621336	46621336	C	G	CRIPTO	c.331C>G	NM_003212.4	NP_003203.1:p.(Arg111Gly)	NC_000003.11:g.46621336C>G	(Likely) benign	2 labs	edb3188c1a
2:179393376 TTN G>GCA	2	179393376	179393378	G	GCA	TTN	c.107100_107101dup	NM_001267550.2	NP_001254479.2:p.(Ala35701ValfsTer51)	NC_000002.11:g.179393377_179393378dup	(Likely) pathogenic	2 labs	2dc37f8fe9
12:57324019 SDR9C7 T>C	12	57324019	57324019	T	C	SDR9C7	c.551A>G	NM_148897.3	NP_683695.1:p.(Asp184Gly)	NC_000012.11:g.57324019T>C	(Likely) pathogenic	2 labs	2dc508b62a
2:166898822 SCN1A A>T	2	166898822	166898822	A	T	SCN1A	c.2156T>A	NM_001165963.4	NP_001159435.1:p.(Ile719Asn)	NC_000002.11:g.166898822A>T	VUS	2 labs	edf6d09dc3
12:6061588 VWF G>C	12	6061588	6061588	G	C	VWF	c.8084C>G	NM_000552.5	NP_000543.3:p.(Pro2695Arg)	NC_000012.11:g.6061588G>C	VUS	2 labs	ee018ba7d9
2:8871289 KIDINS220 C>T	2	8871289	8871289	C	T	KIDINS220	c.4877G>A	NM_020738.4	NP_065789.1:p.(Arg1626Gln)	NC_000002.11:g.8871289C>T	(Likely) benign	2 labs	30b19acb0e
2:179611809 TTN A>G	2	179611809	179611809	A	G	TTN	c.15318T>C	NM_133379.5	NP_596870.2:p.(Tyr5106=)	NC_000002.11:g.179611809A>G	(Likely) benign	2 labs	2dcb7a7d77
1:236923097 ACTN2 A>G	1	236923097	236923097	A	G	ACTN2	c.1743+8A>G	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236923097A>G	(Likely) benign	2 labs	30b41dce6d
1:6027419 NPHP4 G>A	1	6027419	6027419	G	A	NPHP4	c.457C>T	NM_015102.5	NP_055917.1:p.(Arg153Trp)	NC_000001.10:g.6027419G>A	VUS	2 labs	d9a31c4b55
2:179441341 TTN G>A	2	179441341	179441341	G	A	TTN	c.69630C>T	NM_001267550.2	NP_001254479.2:p.(Tyr23210=)	NC_000002.11:g.179441341G>A	(Likely) benign	2 labs	2dd1519208
11:108151697 ATM A>AT	11	108151697	108151707	A	AT	ATM	c.3403-15dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151707dup	(Likely) benign	2 labs	ee746ae182
12:22017422 ABCC9 A>G	12	22017422	22017422	A	G	ABCC9	c.2199-11T>C	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.22017422A>G	(Likely) benign	4 labs	2dd2917723
14:23884571 MYH7 G>A	14	23884571	23884571	G	A	MYH7	c.5283+19C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23884571G>A	(Likely) benign	5 labs	2dd5f53aaa
2:179467325 TTN C>A	2	179467325	179467325	C	A	TTN	c.54812-8G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467325C>A	(Likely) benign	2 labs	eea252b621
12:22063749 ABCC9 T>C	12	22063749	22063749	T	C	ABCC9	c.1164+11A>G	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.22063749T>C	(Likely) benign	5 labs	2dda857a88
5:1278865 TERT G>A	5	1278865	1278865	G	A	TERT	c.2177C>T	NM_198253.3	NP_937983.2:p.(Thr726Met)	NC_000005.9:g.1278865G>A	VUS	2 labs	eedc177956
19:39019222 RYR1 A>G	19	39019222	39019222	A	G	RYR1	c.10938-17A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39019222A>G	(Likely) benign	2 labs	ef05b8be0f
5:112164616 APC C>T	5	112164616	112164616	C	T	APC	c.1690C>T	NM_000038.6	NP_000029.2:p.(Arg564Ter)	NC_000005.9:g.112164616C>T	(Likely) pathogenic	2 labs	ef31bcc6af
14:69341658 ACTN1 G>A	14	69341658	69341658	G	A	ACTN1	c.2663C>T	NM_001130004.1	NP_001123476.1:p.(Pro888Leu)	NC_000014.8:g.69341658G>A	(Likely) benign	2 labs	30caf5e09e
4:6293068 WFS1 A>G	4	6293068	6293068	A	G	WFS1	c.605A>G	NM_006005.3	NP_005996.2:p.(Glu202Gly)	NC_000004.11:g.6293068A>G	(Likely) pathogenic	2 labs	ef44109711
1:55505652 PCSK9 G>A	1	55505652	55505652	G	A	PCSK9	c.142G>A	NM_174936.4	NP_777596.2:p.(Glu48Lys)	NC_000001.10:g.55505652G>A	VUS	2 labs	2defaf49d4
13:77570145 CLN5 C>T	13	77570145	77570145	C	T	CLN5	c.448C>T	NM_006493.4	NP_006484.2:p.(Arg150Ter)	NC_000013.10:g.77570145C>T	(Likely) pathogenic	3 labs	2df0758951
2:179403881 TTN A>G	2	179403881	179403881	A	G	TTN	c.98781T>C	NM_001267550.2	NP_001254479.2:p.(Ser32927=)	NC_000002.11:g.179403881A>G	(Likely) benign	3 labs	2df3226b25
15:85407686 ALPK3 T>C	15	85407686	85407686	T	C	ALPK3	c.4513T>C	NM_020778.5	NP_065829.4:p.(Tyr1505His)	NC_000015.9:g.85407686T>C	VUS	2 labs	efd0f8032d
9:133346920 ASS1 A>G	9	133346920	133346920	A	G	ASS1	c.597+18A>G	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133346920A>G	(Likely) benign	2 labs	2e074bfa5c
11:108121516 ATM C>T	11	108121516	108121516	C	T	ATM	c.1324C>T	NM_000051.4	NP_000042.3:p.(Leu442Phe)	NC_000011.9:g.108121516C>T	VUS	2 labs	efef2b9a33
1:196395045 KCNT2 C>T	1	196395045	196395045	C	T	KCNT2	c.1058G>A	NM_198503.5	NP_940905.2:p.(Trp353Ter)	NC_000001.10:g.196395045C>T	VUS	2 labs	f00b459f77
7:151329211 PRKAG2 G>C	7	151329211	151329211	G	C	PRKAG2	c.698C>G	NM_016203.4	NP_057287.2:p.(Ala233Gly)	NC_000007.13:g.151329211G>C	VUS	2 labs	2e094d2b4c
15:75651094 MAN2C1 G>A	15	75651094	75651094	G	A	MAN2C1	c.2197C>T	NM_006715.4	NP_006706.2:p.(Pro733Ser)	NC_000015.9:g.75651094G>A	VUS	2 labs	f024e1979d
10:12148275 DHTKD1 G>A	10	12148275	12148275	G	A	DHTKD1	c.1927G>A	NM_018706.7	NP_061176.4:p.(Val643Ile)	NC_000010.10:g.12148275G>A	VUS	2 labs	f03ed7f013
7:117307108 CFTR G>A	7	117307108	117307108	G	A	CFTR	c.4389G>A	NM_000492.4	NP_000483.3:p.(Gln1463=)	NC_000007.13:g.117307108G>A	(Likely) benign	6 labs	2e15248cd6
10:102749069 TWNK G>A	10	102749069	102749069	G	A	TWNK	c.1102G>A	NM_021830.5	NP_068602.2:p.(Val368Ile)	NC_000010.10:g.102749069G>A	(Likely) benign	2 labs	f0a451c4da
2:48027672 MSH6 C>CA	2	48027672	48027673	C	CA	MSH6	c.2551dup	NM_000179.3	NP_000170.1:p.(Ser851LysfsTer7)	NC_000002.11:g.48027673dup	(Likely) pathogenic	2 labs	2e17f36b03
12:48369268 COL2A1 G>A	12	48369268	48369268	G	A	COL2A1	c.3718C>T	NM_001844.5	NP_001835.3:p.(Arg1240Trp)	NC_000012.11:g.48369268G>A	VUS	2 labs	f108f9c5d9
12:111356964 MYL2 C>T	12	111356964	111356964	C	T	MYL2	c.37G>A	NM_000432.4	NP_000423.2:p.(Ala13Thr)	NC_000012.11:g.111356964C>T	(Likely) benign	3 labs	2e2b6b1418
1:19566860 EMC1 G>C	1	19566860	19566860	G	C	EMC1	c.717C>G	NM_015047.3	NP_055862.1:p.(Asp239Glu)	NC_000001.10:g.19566860G>C	VUS	2 labs	2e2ef02eab
4:1808930 FGFR3 G>A	4	1808930	1808930	G	A	FGFR3	c.2362G>A	NM_000142.5	NP_000133.1:p.(Val788Met)	NC_000004.11:g.1808930G>A	VUS	2 labs	f1511a519f
19:1220354 STK11 G>T	19	1220354	1220354	G	T	STK11	c.465-18G>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220354G>T	(Likely) benign	2 labs	f173dd105b
13:32913651 BRCA2 C>A	13	32913651	32913651	C	A	BRCA2	c.5159C>A	NM_000059.4	NP_000050.3:p.(Ser1720Ter)	NC_000013.10:g.32913651C>A	(Likely) pathogenic	2 labs	f18395a40b
16:89350125 ANKRD11 C>T	16	89350125	89350125	C	T	ANKRD11	c.2825G>A	NM_013275.6	NP_037407.4:p.(Arg942Lys)	NC_000016.9:g.89350125C>T	(Likely) benign	2 labs	f18a3a5bab
4:119736701 SEC24D G>A	4	119736701	119736701	G	A	SEC24D	c.578C>T	NM_001318066.2	NP_001304995.1:p.(Pro193Leu)	NC_000004.11:g.119736701G>A	(Likely) benign	2 labs	f191ba7443
17:39923836 JUP G>C	17	39923836	39923836	G	C	JUP	c.708-4C>G	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39923836G>C	(Likely) benign	3 labs	2e3815d24d
2:39278343 SOS1 A>G	2	39278343	39278343	A	G	SOS1	c.806T>C	NM_005633.4	NP_005624.2:p.(Met269Thr)	NC_000002.11:g.39278343A>G	(Likely) pathogenic	2 labs	f1c0d0b684
5:153857101 HAND1 A>C	5	153857101	153857101	A	C	HAND1	c.468T>G	NM_004821.3	NP_004812.1:p.(Ser156=)	NC_000005.9:g.153857101A>C	(Likely) benign	2 labs	f20d2840c7
7:117242874 CFTR T>C	7	117242874	117242874	T	C	CFTR	c.2620-6T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117242874T>C	(Likely) benign	2 labs	2e40049ad5
14:65253204 SPTB C>T	14	65253204	65253204	C	T	SPTB	c.3479G>A	NM_001355436.2	NP_001342365.1:p.(Arg1160His)	NC_000014.8:g.65253204C>T	VUS	2 labs	f21bab9e53
18:34289142 FHOD3 A>G	18	34289142	34289142	A	G	FHOD3	c.2321A>G	NM_001281740.3	NP_001268669.1:p.(Gln774Arg)	NC_000018.9:g.34289142A>G	(Likely) benign	2 labs	f241770177
1:228346486 GJC2 G>T	1	228346486	228346486	G	T	GJC2	c.1027G>T	NM_020435.4	NP_065168.2:p.(Ala343Ser)	NC_000001.10:g.228346486G>T	(Likely) benign	2 labs	3107ac136b
4:15530334 CC2D2A A>G	4	15530334	15530334	A	G	CC2D2A	c.1451A>G	NM_001378615.1	NP_001365544.1:p.(Tyr484Cys)	NC_000004.11:g.15530334A>G	VUS	2 labs	f27f1524ab
16:50745990 NOD2 C>T	16	50745990	50745990	C	T	NOD2	c.2168C>T	NM_022162.3	NP_071445.1:p.(Pro723Leu)	NC_000016.9:g.50745990C>T	VUS	2 labs	2e4ea147af
7:42004239 GLI3 C>CA	7	42004239	42004240	C	CA	GLI3	c.4431dup	NM_000168.6	NP_000159.3:p.(Glu1478Ter)	NC_000007.13:g.42004240dup	(Likely) pathogenic	2 labs	2e55d85e6f
7:87074281 ABCB4 GA>G	7	87074281	87074290	GA	G	ABCB4	c.1015del	NM_000443.4	NP_000434.1:p.(Ser339GlnfsTer3)	NC_000007.13:g.87074290del	(Likely) pathogenic	2 labs	311a4d9c62
21:44846049 SIK1 T>G	21	44846049	44846049	T	G	SIK1	c.10A>C	NM_173354.5	NP_775490.2:p.(Met4Leu)	NC_000021.8:g.44846049T>G	VUS	2 labs	f2f2967b98
14:23899120 MYH7 G>A	14	23899120	23899120	G	A	MYH7	c.1002C>T	NM_000257.4	NP_000248.2:p.(Asn334=)	NC_000014.8:g.23899120G>A	(Likely) benign	5 labs	2e5a552d0b
5:176820765 SLC34A1 G>A	5	176820765	176820765	G	A	SLC34A1	c.1006+1G>A	NM_003052.5	NP_003043.3:p.?	NC_000005.9:g.176820765G>A	(Likely) pathogenic	2 labs	31266caf21
1:45974510 MMACHC T>C	1	45974510	45974510	T	C	MMACHC	c.472T>C	NM_015506.3	NP_056321.2:p.(Phe158Leu)	NC_000001.10:g.45974510T>C	VUS	2 labs	f31d757d98
13:100637742 ZIC2 G>GCCGCGGTGT	13	100637742	100637759	G	GCCGCGGTGT	ZIC2	c.1414_1422dup	NM_007129.5	NP_009060.2:p.(Ser472_Val474dup)	NC_000013.10:g.100637751_100637759dup	VUS	2 labs	d9afd51e48
2:179456400 TTN C>T	2	179456400	179456400	C	T	TTN	c.60146G>A	NM_001267550.2	NP_001254479.2:p.(Arg20049His)	NC_000002.11:g.179456400C>T	VUS	4 labs	2e69db9444
6:7577213 DSP G>A	6	7577213	7577213	G	A	DSP	c.2815G>A	NM_004415.4	NP_004406.2:p.(Gly939Ser)	NC_000006.11:g.7577213G>A	(Likely) benign	5 labs	2e76d2989b
2:152522065 NEB G>GA	2	152522065	152522073	G	GA	NEB	c.5032-13dup	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152522073dup	(Likely) benign	2 labs	31414d9817
16:56904587 SLC12A3 C>G	16	56904587	56904587	C	G	SLC12A3	c.791C>G	NM_000339.3	NP_000330.3:p.(Ala264Gly)	NC_000016.9:g.56904587C>G	(Likely) benign	2 labs	2e77dabfdd
10:75854210 VCL C>T	10	75854210	75854210	C	T	VCL	c.1534C>T	NM_014000.3	NP_054706.1:p.(Arg512Cys)	NC_000010.10:g.75854210C>T	VUS	3 labs	2e85abb4d2
4:114278128 ANK2 C>T	4	114278128	114278128	C	T	ANK2	c.8354C>T	NM_001148.6	NP_001139.3:p.(Ser2785Leu)	NC_000004.11:g.114278128C>T	(Likely) benign	3 labs	31449ca5fd
12:48367873 COL2A1 G>A	12	48367873	48367873	G	A	COL2A1	c.4316C>T	NM_001844.5	NP_001835.3:p.(Thr1439Met)	NC_000012.11:g.48367873G>A	VUS	2 labs	f41d98e284
6:7578067 DSP T>A	6	7578067	7578067	T	A	DSP	c.2933T>A	NM_004415.4	NP_004406.2:p.(Ile978Lys)	NC_000006.11:g.7578067T>A	VUS	4 labs	2e8eb12c38
16:88497031 ZNF469 T>C	16	88497031	88497031	T	C	ZNF469	c.3153T>C	NM_001367624.2	NP_001354553.1:p.(Ile1051=)	NC_000016.9:g.88497031T>C	(Likely) benign	3 labs	2e8fa1e659
2:152404901 NEB G>A	2	152404901	152404901	G	A	NEB	c.20078C>T	NM_001271208.1	NP_001258137.1:p.(Thr6693Ile)	NC_000002.11:g.152404901G>A	(Likely) benign	2 labs	314ef9dc6c
16:15812234 MYH11 G>T	16	15812234	15812234	G	T	MYH11	c.5254C>A	NM_001040113.2	NP_001035202.1:p.(Leu1752Met)	NC_000016.9:g.15812234G>T	VUS	2 labs	f4980759ab
8:61777914 CHD7 C>G	8	61777914	61777914	C	G	CHD7				NC_000008.10:g.61777914C>G	(Likely) benign	2 labs	f4edc8709b
7:87092185 ABCB4 G>A	7	87092185	87092185	G	A	ABCB4	c.175C>T	NM_018849.3	NP_061337.1:p.(Leu59=)	NC_000007.13:g.87092185G>A	(Likely) benign	2 labs	2ead2270b2
13:32971018 BRCA2 T>C	13	32971018	32971018	T	C	BRCA2	c.9502-17T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32971018T>C	(Likely) benign	2 labs	f51159c6e8
6:129381026 LAMA2 C>A	6	129381026	129381026	C	A	LAMA2	c.381C>A	NM_000426.4	NP_000417.3:p.(Thr127=)	NC_000006.11:g.129381026C>A	(Likely) benign	3 labs	2eaeed5b2e
2:227942734 COL4A4 TG>T	2	227942734	227942740	TG	T	COL4A4	c.1862del	NM_000092.5	NP_000083.3:p.(Pro621GlnfsTer32)	NC_000002.11:g.227942740del	(Likely) pathogenic	2 labs	316c952e79
7:124475296 POT1 T>TAAACA	7	124475296	124475329	T	TAAACA	POT1	c.1505+32_1505+36dup	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124475325_124475329dup	(Likely) benign	3 labs	2eaf920a09
2:29294126 PCARE C>T	2	29294126	29294126	C	T	PCARE	c.3002G>A	NM_001029883.3	NP_001025054.1:p.(Trp1001Ter)	NC_000002.11:g.29294126C>T	(Likely) pathogenic	2 labs	f5c7513be6
18:21113475 NPC1 T>C	18	21113475	21113475	T	C	NPC1	c.3598A>G	NM_000271.5	NP_000262.2:p.(Ser1200Gly)	NC_000018.9:g.21113475T>C	(Likely) benign	3 labs	2eb81c1759
17:56772284 RAD51C A>C	17	56772284	56772284	A	C	RAD51C	c.146-8A>C	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56772284A>C	(Likely) benign	2 labs	353916c4fa
7:128483857 FLNC T>C	7	128483857	128483857	T	C	FLNC	c.2819T>C	NM_001458.5	NP_001449.3:p.(Met940Thr)	NC_000007.13:g.128483857T>C	VUS	2 labs	f5fe623540
2:74598126 DCTN1 G>A	2	74598126	74598126	G	A	DCTN1	c.823C>T	NM_004082.5	NP_004073.2:p.(Arg275Cys)	NC_000002.11:g.74598126G>A	VUS	2 labs	f606bbb35d
10:105928535 CFAP43 C>T	10	105928535	105928535	C	T	CFAP43	c.2658G>A	NM_025145.7	NP_079421.5:p.(Trp886Ter)	NC_000010.10:g.105928535C>T	(Likely) pathogenic	2 labs	f6190ab3d3
10:102005555 CWF19L1 C>T	10	102005555	102005555	C	T	CWF19L1	c.964+1G>A	NM_018294.6	NP_060764.3:p.?	NC_000010.10:g.102005555C>T	(Likely) pathogenic	2 labs	f64f73c85a
1:152283122 FLG C>T	1	152283122	152283122	C	T	FLG	c.4240G>A	NM_002016.2	NP_002007.1:p.(Gly1414Arg)	NC_000001.10:g.152283122C>T	(Likely) benign	2 labs	f65d5a04e7
1:27429805 SLC9A1 T>TG	1	27429805	27429811	T	TG	SLC9A1	c.1486-3dup	NM_003047.5	NP_003038.2:p.?	NC_000001.10:g.27429811dup	(Likely) benign	2 labs	f65b72bf33
1:120506308 NOTCH2 C>T	1	120506308	120506308	C	T	NOTCH2	c.1804G>A	NM_024408.4	NP_077719.2:p.(Ala602Thr)	NC_000001.10:g.120506308C>T	(Likely) benign	2 labs	f6a7636415
13:32910856 BRCA2 C>T	13	32910856	32910856	C	T	BRCA2	c.2364C>T	NM_000059.4	NP_000050.3:p.(Gly788=)	NC_000013.10:g.32910856C>T	(Likely) benign	2 labs	f6b04f8db5
9:34649484 GALT C>T	9	34649484	34649484	C	T	GALT	c.982C>T	NM_000155.4	NP_000146.2:p.(Arg328Cys)	NC_000009.11:g.34649484C>T	VUS	2 labs	f6b0e0ebb0
14:23898487 MYH7 C>T	14	23898487	23898487	C	T	MYH7	c.1208G>A	NM_000257.4	NP_000248.2:p.(Arg403Gln)	NC_000014.8:g.23898487C>T	(Likely) pathogenic	5 labs	2ec7c56aa1
3:47047500 NBEAL2 G>A	3	47047500	47047500	G	A	NBEAL2	c.6866G>A	NM_015175.3	NP_055990.1:p.(Arg2289Gln)	NC_000003.11:g.47047500G>A	(Likely) benign	2 labs	f704c4df26
11:22272542 ANO5 T>C	11	22272542	22272542	T	C	ANO5	c.1165T>C	NM_213599.3	NP_998764.1:p.(Phe389Leu)	NC_000011.9:g.22272542T>C	VUS	2 labs	f782cb8aea
6:116441438 COL10A1 A>G	6	116441438	116441438	A	G	COL10A1	c.1841T>C	NM_000493.4	NP_000484.2:p.(Leu614Pro)	NC_000006.11:g.116441438A>G	(Likely) pathogenic	2 labs	f78eaba4a9
8:38111160 DDHD2 G>C	8	38111160	38111160	G	C	DDHD2	c.1978G>C	NM_015214.3	NP_056029.2:p.(Asp660His)	NC_000008.10:g.38111160G>C	(Likely) pathogenic	2 labs	f7d71d2058
7:148543674 EZH2 T>C	7	148543674	148543674	T	C	EZH2	c.134A>G	NM_004456.5	NP_004447.2:p.(Asn45Ser)	NC_000007.13:g.148543674T>C	VUS	2 labs	f7f23d44a9
1:40312919 TRIT1 G>A	1	40312919	40312919	G	A	TRIT1	c.979C>T	NM_017646.6	NP_060116.2:p.(Arg327Ter)	NC_000001.10:g.40312919G>A	(Likely) pathogenic	3 labs	2ed5ab9f8b
3:164714532 SI C>T	3	164714532	164714532	C	T	SI	c.4569G>A	NM_001041.4	NP_001032.2:p.(Met1523Ile)	NC_000003.11:g.164714532C>T	(Likely) benign	2 labs	d9bcbf41c6
1:3348629 PRDM16 A>T	1	3348629	3348629	A	T	PRDM16	c.3621A>T	NM_022114.4	NP_071397.3:p.(Glu1207Asp)	NC_000001.10:g.3348629A>T	(Likely) benign	5 labs	2edcf3b29c
9:94487074 ROR2 G>A	9	94487074	94487074	G	A	ROR2	c.1702C>T	NM_004560.4	NP_004551.2:p.(Arg568Cys)	NC_000009.11:g.94487074G>A	VUS	2 labs	f8c2fc2eaf
16:89350911 ANKRD11 G>C	16	89350911	89350911	G	C	ANKRD11	c.2039C>G	NM_013275.6	NP_037407.4:p.(Thr680Ser)	NC_000016.9:g.89350911G>C	(Likely) benign	2 labs	f8f37b8e7a
16:2166816 PKD1 G>A	16	2166816	2166816	G	A	PKD1	c.1606+18C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2166816G>A	(Likely) benign	2 labs	f946b67fcb
2:179423226 TTN T>C	2	179423226	179423226	T	C	TTN	c.86960A>G	NM_001267550.2	NP_001254479.2:p.(Lys28987Arg)	NC_000002.11:g.179423226T>C	VUS	2 labs	2ef21abe78
7:130080812 CEP41 T>G	7	130080812	130080812	T	G	CEP41	n.46A>C	NR_046443.2		NC_000007.13:g.130080812T>G	(Likely) benign	2 labs	2ef36a2b20
1:152275298 FLG T>A	1	152275298	152275298	T	A	FLG	c.12064A>T	NM_002016.2	NP_002007.1:p.(Lys4022Ter)	NC_000001.10:g.152275298T>A	(Likely) pathogenic	2 labs	f9c54a6485
5:90445889 ADGRV1 A>G	5	90445889	90445889	A	G	ADGRV1	c.18475A>G	NM_032119.4	NP_115495.3:p.(Met6159Val)	NC_000005.9:g.90445889A>G	(Likely) benign	2 labs	31f4d6a81f
16:9857857 GRIN2A C>T	16	9857857	9857857	C	T	GRIN2A	c.3544G>A	NM_001134407.3	NP_001127879.1:p.(Asp1182Asn)	NC_000016.9:g.9857857C>T	VUS	2 labs	f9dda26360
4:110663642 CFI C>A	4	110663642	110663642	C	A	CFI	c.1534+5G>T	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110663642C>A	(Likely) benign	2 labs	31fbc89771
15:23892386 MAGEL2 CGGGGTCCCCGGAGGAGGAGGATGGGCCATT>C	15	23892386	23892430	CGGGGTCCCCGGAGGAGGAGGATGGGCCATT	C	MAGEL2	c.474_503del	NM_019066.5	NP_061939.3:p.(Ala170_Met179del)	NC_000015.9:g.23892401_23892430del	VUS	3 labs	2ef9b762d1
10:12148286 DHTKD1 T>C	10	12148286	12148286	T	C	DHTKD1	c.1938T>C	NM_018706.7	NP_061176.4:p.(Phe646=)	NC_000010.10:g.12148286T>C	(Likely) benign	2 labs	2efa7d3cb2
2:152573981 NEB A>G	2	152573981	152573981	A	G	NEB	c.771T>C	NM_001271208.2	NP_001258137.2:p.(Ala257=)	NC_000002.11:g.152573981A>G	(Likely) benign	2 labs	2eff467231
20:25288632 ABHD12 G>A	20	25288632	25288632	G	A	ABHD12	c.837C>T	NM_001042472.3	NP_001035937.1:p.(Arg279=)	NC_000020.10:g.25288632G>A	(Likely) benign	3 labs	2f00be2d59
12:112888220 PTPN11 A>G	12	112888220	112888220	A	G	PTPN11	c.236A>G	NM_002834.5	NP_002825.3:p.(Gln79Arg)	NC_000012.11:g.112888220A>G	(Likely) pathogenic	2 labs	faa549bd70
X:99661969 PCDH19 G>A	X	99661969	99661969	G	A	PCDH19	c.1627C>T	NM_001184880.2	NP_001171809.1:p.(Leu543=)	NC_000023.10:g.99661969G>A	(Likely) benign	3 labs	2f04c8a18f
2:166198965 SCN2A C>T	2	166198965	166198965	C	T	SCN2A	c.2548C>T	NM_001040142.2	NP_001035232.1:p.(Arg850Ter)	NC_000002.11:g.166198965C>T	(Likely) pathogenic	2 labs	faff7a1084
1:237791170 RYR2 A>G	1	237791170	237791170	A	G	RYR2	c.6230A>G	NM_001035.3	NP_001026.2:p.(Asp2077Gly)	NC_000001.10:g.237791170A>G	VUS	2 labs	fb659eeeef
15:65369531 KBTBD13 G>T	15	65369531	65369531	G	T	KBTBD13	c.378G>T	NM_001101362.2	NP_001094832.1:p.(Ala126=)	NC_000015.9:g.65369531G>T	(Likely) benign	2 labs	32213e635a
10:88854171 GLUD1 G>C	10	88854171	88854171	G	C	GLUD1	c.356C>G	NM_005271.5	NP_005262.1:p.(Ser119Cys)	NC_000010.10:g.88854171G>C	(Likely) benign	2 labs	fbd8d781ed
12:111785639 CUX2 G>T	12	111785639	111785639	G	T	CUX2	c.3971G>T	NM_015267.4	NP_056082.2:p.(Gly1324Val)	NC_000012.11:g.111785639G>T	(Likely) benign	3 labs	2f13920428
10:73491873 CDH23 A>G	10	73491873	73491873	A	G	CDH23	c.3845A>G	NM_022124.6	NP_071407.4:p.(Asn1282Ser)	NC_000010.10:g.73491873A>G	(Likely) benign	2 labs	fbeba90e5f
7:6037038 PMS2 G>C	7	6037038	6037038	G	C	PMS2	c.722C>G	NM_000535.5	NP_000526.1:p.(Pro241Arg)	NC_000007.13:g.6037038G>C	VUS	2 labs	322d213767
13:110819607 COL4A1 G>T	13	110819607	110819607	G	T	COL4A1	c.3877-30C>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110819607G>T	(Likely) benign	2 labs	323dc9706b
12:122242666 SETD1B A>C	12	122242666	122242666	A	C	SETD1B	c.23A>C	NM_001353345.2	NP_001340274.1:p.(His8Pro)	NC_000012.11:g.122242666A>C	(Likely) benign	2 labs	fc660c0ba8
11:46747447 F2 G>A	11	46747447	46747447	G	A	F2	c.598G>A	NM_000506.5	NP_000497.1:p.(Glu200Lys)	NC_000011.9:g.46747447G>A	(Likely) benign	2 labs	fc86ed3c54
19:617433 POLRMT G>C	19	617433	617433	G	C	POLRMT	c.3629C>G	NM_005035.4	NP_005026.3:p.(Ala1210Gly)	NC_000019.9:g.617433G>C	VUS	2 labs	2f1bdc8d05
17:16875319 TNFRSF13B G>A	17	16875319	16875319	G	A	TNFRSF13B	c.61+10C>T	NM_012452.2	NP_036584.1:p.?	NC_000017.10:g.16875319G>A	(Likely) benign	2 labs	3245346ab7
19:38990594 RYR1 G>C	19	38990594	38990594	G	C	RYR1	c.7261G>C	NM_000540.3	NP_000531.2:p.(Ala2421Pro)	NC_000019.9:g.38990594G>C	VUS	2 labs	fcd3860d22
22:29121050 CHEK2 A>C	22	29121050	29121050	A	C	CHEK2	c.507T>G	NM_007194.4	NP_009125.1:p.(Phe169Leu)	NC_000022.10:g.29121050A>C	VUS	6 labs	2f1c0577b4
10:75864874 VCL G>T	10	75864874	75864874	G	T	VCL	c.2197G>T	NM_014000.3	NP_054706.1:p.(Asp733Tyr)	NC_000010.10:g.75864874G>T	VUS	2 labs	fd10f58fc1
18:48434457 ME2 C>T	18	48434457	48434457	C	T	ME2	c.133C>T	NM_002396.5	NP_002387.1:p.(Arg45Ter)	NC_000018.9:g.48434457C>T	VUS	2 labs	fd7dccda7e
14:23888715 MYH7 C>T	14	23888715	23888715	C	T	MYH7	c.3830G>A	NM_000257.2	NP_000248.2:p.(Arg1277Gln)	NC_000014.8:g.23888715C>T	VUS	2 labs	325f641b7b
11:118209960 CD3D A>C	11	118209960	118209960	A	C	CD3D	c.451-18T>G	NM_000732.6	NP_000723.1:p.?	NC_000011.9:g.118209960A>C	(Likely) benign	2 labs	32633154ee
13:23906739 SACS G>A	13	23906739	23906739	G	A	SACS	c.11276C>T	NM_014363.6	NP_055178.3:p.(Thr3759Met)	NC_000013.10:g.23906739G>A	VUS	2 labs	fdc957054f
8:145738808 RECQL4 G>A	8	145738808	145738808	G	A	RECQL4	c.2257C>T	NM_004260.4	NP_004251.4:p.(Arg753Trp)	NC_000008.10:g.145738808G>A	VUS	2 labs	fdc5a70d2b
15:89870429 POLG T>C	15	89870429	89870429	T	C	POLG	c.1402A>G	NM_002693.3	NP_002684.1:p.(Asn468Asp)	NC_000015.9:g.89870429T>C	(Likely) pathogenic	4 labs	2f23f2f02b
12:6166046 VWF G>A	12	6166046	6166046	G	A	VWF	c.1922C>T	NM_000552.5	NP_000543.3:p.(Ala641Val)	NC_000012.11:g.6166046G>A	VUS	2 labs	fe3691c950
21:34923980 SON A>C	21	34923980	34923980	A	C	SON	c.2443A>C	NM_032195.3	NP_115571.3:p.(Met815Leu)	NC_000021.8:g.34923980A>C	(Likely) benign	2 labs	2f2d94e09e
3:121973109 CASR C>T	3	121973109	121973109	C	T	CASR	c.73C>T	NM_001178065.2	NP_001171536.2:p.(Arg25Ter)	NC_000003.11:g.121973109C>T	(Likely) pathogenic	3 labs	327bdb9db5
19:47980074 KPTN C>G	19	47980074	47980074	C	G	KPTN	c.985G>C	NM_007059.4	NP_008990.2:p.(Ala329Pro)	NC_000019.9:g.47980074C>G	VUS	2 labs	3284d34c31
16:68846165 CDH1 C>T	16	68846165	68846165	C	T	CDH1	c.1136C>T	NM_004360.5	NP_004351.1:p.(Thr379Met)	NC_000016.9:g.68846165C>T	(Likely) benign	2 labs	fe8478d946
9:136434598 ADAMTSL2 A>G	9	136434598	136434598	A	G	ADAMTSL2	c.2313A>G	NM_001145320.2	NP_001138792.1:p.(Val771=)	NC_000009.11:g.136434598A>G	(Likely) benign	3 labs	2f37bc3256
X:21761911 SMPX C>T	X	21761911	21761911	C	T	SMPX	c.89G>A	NM_014332.3	NP_055147.1:p.(Gly30Asp)	NC_000023.10:g.21761911C>T	VUS	2 labs	fece2b810e
18:29178562 TTR G>A	18	29178562	29178562	G	A	TTR	c.368G>A	NM_000371.4	NP_000362.1:p.(Arg123His)	NC_000018.9:g.29178562G>A	VUS	4 labs	2f3b0d76ac
17:42230059 HROB C>G	17	42230059	42230059	C	G	HROB	c.1363C>G	NM_001171251.3	NP_001164722.1:p.(Leu455Val)	NC_000017.10:g.42230059C>G	VUS	2 labs	ff0857941d
19:39055715 RYR1 C>T	19	39055715	39055715	C	T	RYR1	c.12741C>T	NM_000540.3	NP_000531.2:p.(Ala4247=)	NC_000019.9:g.39055715C>T	(Likely) benign	2 labs	ff7c81a60b
17:63533795 AXIN2 C>G	17	63533795	63533795	C	G	AXIN2	c.1359G>C	NM_004655.4	NP_004646.3:p.(Gln453His)	NC_000017.10:g.63533795C>G	VUS	2 labs	ff7e749b48
13:73409497 PIBF1 G>A	13	73409497	73409497	G	A	PIBF1	c.1214G>A	NM_006346.3	NP_006337.2:p.(Arg405Gln)	NC_000013.10:g.73409497G>A	(Likely) benign	2 labs	32a462fff4
4:6303644 WFS1 C>T	4	6303644	6303644	C	T	WFS1	c.2122C>T	NM_006005.3	NP_005996.2:p.(Arg708Cys)	NC_000004.11:g.6303644C>T	VUS	3 labs	1c9a01504d
13:52513335 ATP7B G>A	13	52513335	52513335	G	A	ATP7B	c.3557-6C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52513335G>A	(Likely) benign	4 labs	2f5bf4b9fb
2:73717865 ALMS1 C>A	2	73717865	73717865	C	A	ALMS1	c.8782C>A	NM_015120.4	NP_055935.4:p.(Arg2928=)	NC_000002.11:g.73717865C>A	(Likely) benign	2 labs	2f646d1496
11:5248233 HBB C>T	11	5248233	5248233	C	T	HBB	c.19G>A	NM_000518.5	NP_000509.1:p.(Glu7Lys)	NC_000011.9:g.5248233C>T	(Likely) pathogenic	2 labs	2f7db92e1f
2:179478861 TTN G>T	2	179478861	179478861	G	T	TTN	c.49263C>A	NM_001267550.2	NP_001254479.2:p.(Tyr16421Ter)	NC_000002.11:g.179478861G>T	(Likely) pathogenic	4 labs	2f821ae1e8
2:179585266 TTN C>T	2	179585266	179585266	C	T	TTN	c.23223G>A	NM_001267550.2	NP_001254479.2:p.(Gln7741=)	NC_000002.11:g.179585266C>T	(Likely) benign	3 labs	2f8a54f3f6
15:40468866 BUB1B C>A	15	40468866	40468866	C	A	BUB1B	c.573C>A	NM_001211.6	NP_001202.5:p.(Ser191=)	NC_000015.9:g.40468866C>A	(Likely) benign	2 labs	2f8d494c20
9:14747412 FREM1 A>G	9	14747412	14747412	A	G	FREM1	c.5859T>C	NM_144966.7	NP_659403.4:p.(Val1953=)	NC_000009.11:g.14747412A>G	(Likely) benign	2 labs	2f99154d1e
3:78701029 ROBO1 G>C	3	78701029	78701029	G	C	ROBO1	c.2665C>G	NM_002941.4	NP_002932.1:p.(Gln889Glu)	NC_000003.11:g.78701029G>C	VUS	2 labs	2f9c1d48bb
6:157100023 ARID1B C>CGGA	6	157100023	157100048	C	CGGA	ARID1B	c.1232_1234dup	NM_001371656.1	NP_001358585.1:p.(Gly411dup)	NC_000006.11:g.157100046_157100048dup	(Likely) benign	2 labs	2fa50ca444
2:166032837 SCN3A G>A	2	166032837	166032837	G	A	SCN3A	c.68C>T	NM_006922.4	NP_008853.3:p.(Ala23Val)	NC_000002.11:g.166032837G>A	(Likely) benign	2 labs	1dd9fde7e2
11:299372 IFITM5 G>A	11	299372	299372	G	A	IFITM5	c.119C>T	NM_001025295.3	NP_001020466.1:p.(Ser40Leu)	NC_000011.9:g.299372G>A	(Likely) pathogenic	2 labs	1ddcc92482
5:89979750 ADGRV1 G>T	5	89979750	89979750	G	T	ADGRV1	c.6012G>T	NM_032119.4	NP_115495.3:p.(Leu2004Phe)	NC_000005.9:g.89979750G>T	(Likely) benign	2 labs	1df9800a3c
22:21340117 LZTR1 G>A	22	21340117	21340117	G	A	LZTR1	c.264-13G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21340117G>A	(Likely) pathogenic	2 labs	1dfb73dd38
13:32911760 BRCA2 AT>A	13	32911760	32911761	AT	A	BRCA2	c.3269del	NM_000059.4	NP_000050.3:p.(Met1090SerfsTer14)	NC_000013.10:g.32911761del	(Likely) pathogenic	2 labs	2fa700df65
17:48263001 COL1A1 G>A	17	48263001	48263001	G	A	COL1A1	c.4257C>T	NM_000088.4	NP_000079.2:p.(Thr1419=)	NC_000017.10:g.48263001G>A	(Likely) benign	3 labs	2fa7e11ff0
9:98209594 PTCH1 G>A	9	98209594	98209594	G	A	PTCH1	c.3746C>T	NM_001083602.3	NP_001077071.1:p.(Pro1249Leu)	NC_000009.11:g.98209594G>A	(Likely) benign	2 labs	1e408ddac5
12:5021348 KCNA1 G>C	12	5021348	5021348	G	C	KCNA1	c.804G>C	NM_000217.3	NP_000208.2:p.(Thr268=)	NC_000012.11:g.5021348G>C	(Likely) benign	3 labs	2fbab02b25
3:184071977 CLCN2 C>T	3	184071977	184071977	C	T	CLCN2	c.1633G>A	NM_004366.6	NP_004357.3:p.(Ala545Thr)	NC_000003.11:g.184071977C>T	VUS	2 labs	2fbae0d47d
4:79359885 FRAS1 T>G	4	79359885	79359885	T	G	FRAS1	c.5366+13T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79359885T>G	(Likely) benign	2 labs	2fbb298f59
17:62049740 SCN4A G>A	17	62049740	62049740	G	A	SCN4A	c.364C>T	NM_000334.4	NP_000325.4:p.(Arg122Cys)	NC_000017.10:g.62049740G>A	VUS	2 labs	2fc2155946
17:75303298 SEPTIN9 T>C	17	75303298	75303298	T	C	SEPTIN9	c.-417+19T>C	NM_001113492.2	NP_001106964.1:p.?	NC_000017.10:g.75303298T>C	(Likely) benign	2 labs	1e5dfb8a75
12:31244740 DDX11 G>A	12	31244740	31244740	G	A	DDX11	c.1177G>A	NM_030653.4	NP_085911.2:p.(Asp393Asn)	NC_000012.11:g.31244740G>A	VUS	2 labs	1e68d9bebf
4:114276880 ANK2 T>C	4	114276880	114276880	T	C	ANK2	c.7106T>C	NM_001148.6	NP_001139.3:p.(Val2369Ala)	NC_000004.11:g.114276880T>C	(Likely) benign	2 labs	2fc7c84667
2:179440678 TTN G>A	2	179440678	179440678	G	A	TTN	c.70181C>T	NM_001267550.2	NP_001254479.2:p.(Thr23394Met)	NC_000002.11:g.179440678G>A	VUS	3 labs	2fce139c53
7:39726339 RALA G>A	7	39726339	39726339	G	A	RALA	c.73G>A	NM_005402.4	NP_005393.2:p.(Val25Met)	NC_000007.13:g.39726339G>A	(Likely) pathogenic	2 labs	2fd1c62d88
2:241680802 KIF1A G>A	2	241680802	241680802	G	A	KIF1A	c.3641-8C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241680802G>A	(Likely) benign	3 labs	2fdbece363
12:21713308 GYS2 T>A	12	21713308	21713308	T	A	GYS2	c.1169+12A>T	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21713308T>A	(Likely) benign	2 labs	1e7a42a44a
2:47601106 EPCAM T>C	2	47601106	47601106	T	C	EPCAM	c.344T>C	NM_002354.3	NP_002345.2:p.(Met115Thr)	NC_000002.11:g.47601106T>C	(Likely) benign	2 labs	1e88ff56d7
3:33155782 CRTAP G>A	3	33155782	33155782	G	A	CRTAP	c.213G>A	NM_006371.5	NP_006362.1:p.(Leu71=)	NC_000003.11:g.33155782G>A	(Likely) benign	2 labs	2fef7a7775
X:66766356 AR T>TGGC	X	66766356	66766408	T	TGGC	AR	c.1418_1420dup	NM_000044.6	NP_000035.2:p.(Gly473dup)	NC_000023.10:g.66766406_66766408dup	(Likely) benign	3 labs	2ffcfa1ae7
4:26431638 RBPJ C>T	4	26431638	26431638	C	T	RBPJ	c.1046C>T	NM_005349.4	NP_005340.2:p.(Ala349Val)	NC_000004.11:g.26431638C>T	(Likely) benign	2 labs	1e9bb6d4f9
19:41129842 LTBP4 C>T	19	41129842	41129842	C	T	LTBP4	c.3888C>T	NM_001042544.1	NP_001036009.1:p.(Asp1296=)	NC_000019.9:g.41129842C>T	(Likely) benign	2 labs	300361b072
2:219676989 CYP27A1 G>A	2	219676989	219676989	G	A	CYP27A1	c.491G>A	NM_000784.4	NP_000775.1:p.(Arg164Gln)	NC_000002.11:g.219676989G>A	VUS	3 labs	3015388e13
1:237617733 RYR2 C>T	1	237617733	237617733	C	T	RYR2	c.1335C>T	NM_001035.3	NP_001026.2:p.(Val445=)	NC_000001.10:g.237617733C>T	(Likely) benign	2 labs	3035d53117
3:8787474 CAV3 G>A	3	8787474	8787474	G	A	CAV3	c.377G>A	NM_033337.3	NP_203123.1:p.(Arg126His)	NC_000003.11:g.8787474G>A	VUS	2 labs	1ecebccf2e
22:24761474 SPECC1L G>A	22	24761474	24761474	G	A	SPECC1L	c.2858G>A	NM_015330.6	NP_056145.5:p.(Arg953Gln)	NC_000022.10:g.24761474G>A	VUS	2 labs	1edf417691
3:48603069 COL7A1 G>A	3	48603069	48603069	G	A	COL7A1	c.8440C>T	NM_000094.3	NP_000085.1:p.(Arg2814Ter)	NC_000003.11:g.48603069G>A	(Likely) pathogenic	2 labs	1ee97597ea
11:17593709 OTOG T>C	11	17593709	17593709	T	C	OTOG	c.2074T>C	NM_001277269.2	NP_001264198.1:p.(Ser692Pro)	NC_000011.9:g.17593709T>C	(Likely) benign	2 labs	1f031e0bd4
2:179483108 TTN C>T	2	179483108	179483108	C	T	TTN	c.47077G>A	NM_001267550.2	NP_001254479.2:p.(Val15693Ile)	NC_000002.11:g.179483108C>T	(Likely) benign	5 labs	3076c66c34
2:169801488 ABCB11 A>G	2	169801488	169801488	A	G	ABCB11	c.2344-17T>C	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169801488A>G	(Likely) benign	2 labs	1f111b299b
2:179467226 TTN G>C	2	179467226	179467226	G	C	TTN	c.54903C>G	NM_001267550.2	NP_001254479.2:p.(Gly18301=)	NC_000002.11:g.179467226G>C	(Likely) benign	5 labs	30883c8d9a
5:149513239 PDGFRB C>T	5	149513239	149513239	C	T	PDGFRB	c.844G>A	NM_002609.4	NP_002600.1:p.(Glu282Lys)	NC_000005.9:g.149513239C>T	(Likely) benign	3 labs	308b44e1f0
X:47058450 UBA1 A>G	X	47058450	47058450	A	G	UBA1	c.121A>G	NM_003334.4	NP_003325.2:p.(Met41Val)	NC_000023.10:g.47058450A>G	(Likely) pathogenic	2 labs	1f6b47f15f
1:3328823 PRDM16 G>A	1	3328823	3328823	G	A	PRDM16	c.2062G>A	NM_022114.4	NP_071397.3:p.(Ala688Thr)	NC_000001.10:g.3328823G>A	VUS	2 labs	309d457525
8:145739924 RECQL4 G>A	8	145739924	145739924	G	A	RECQL4	c.1621-15C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145739924G>A	(Likely) benign	2 labs	1fa879500c
15:66995958 SMAD6 G>A	15	66995958	66995958	G	A	SMAD6	c.362G>A	NM_005585.5	NP_005576.3:p.(Cys121Tyr)	NC_000015.9:g.66995958G>A	(Likely) benign	2 labs	30c0f13a30
2:211456637 CPS1 A>G	2	211456637	211456637	A	G	CPS1	c.1030A>G	NM_001875.5	NP_001866.2:p.(Thr344Ala)	NC_000002.11:g.211456637A>G	(Likely) benign	4 labs	30db86da52
16:70289666 AARS1 T>C	16	70289666	70289666	T	C	AARS1	c.2251A>G	NM_001605.3	NP_001596.2:p.(Arg751Gly)	NC_000016.9:g.70289666T>C	(Likely) pathogenic	2 labs	30e261adf3
21:47552130 COL6A2 A>G	21	47552130	47552130	A	G	COL6A2	c.2724A>G	NM_001849.4	NP_001840.3:p.(Thr908=)	NC_000021.8:g.47552130A>G	(Likely) benign	3 labs	30e3bc4a0f
8:143996553 CYP11B2 G>A	8	143996553	143996553	G	A	CYP11B2	c.504C>T	NM_000498.3	NP_000489.3:p.(Phe168=)	NC_000008.10:g.143996553G>A	(Likely) benign	2 labs	1fdc23a526
1:64095111 PGM1 A>G	1	64095111	64095111	A	G	PGM1	c.316A>G	NM_001172818.1	NP_001166289.1:p.(Ile106Val)	NC_000001.10:g.64095111A>G	(Likely) benign	2 labs	1ff2163aed
14:105167807 INF2 C>T	14	105167807	105167807	C	T	INF2	c.105C>T	NM_022489.4	NP_071934.3:p.(Pro35=)	NC_000014.8:g.105167807C>T	(Likely) benign	3 labs	30e7ff0521
1:16373124 CLCNKB A>G	1	16373124	16373124	A	G	CLCNKB	c.324A>G	NM_000085.5	NP_000076.2:p.(Ser108=)	NC_000001.10:g.16373124A>G	(Likely) benign	2 labs	30f662eeb0
2:179449797 TTN A>G	2	179449797	179449797	A	G	TTN	c.64672+2T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179449797A>G	(Likely) pathogenic	3 labs	30f9c24c6f
13:32937507 BRCA2 A>T	13	32937507	32937507	A	T	BRCA2	c.8168A>T	NM_000059.4	NP_000050.3:p.(Asp2723Val)	NC_000013.10:g.32937507A>T	(Likely) pathogenic	2 labs	20305f74c3
9:134397624 POMT1 C>T	9	134397624	134397624	C	T	POMT1	c.2003+13C>T	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134397624C>T	(Likely) benign	4 labs	31060d2348
8:17928811 ASAH1 C>T	8	17928811	17928811	C	T	ASAH1	c.214G>A	NM_177924.5	NP_808592.2:p.(Val72Met)	NC_000008.10:g.17928811C>T	(Likely) benign	2 labs	311298da46
4:187113041 CYP4V2 C>G	4	187113041	187113041	C	G	CYP4V2	c.64C>G	NM_207352.4	NP_997235.3:p.(Leu22Val)	NC_000004.11:g.187113041C>G	(Likely) benign	3 labs	205d7040a9
7:30673345 GARS1 C>T	7	30673345	30673345	C	T	GARS1	c.2095-6C>T	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30673345C>T	(Likely) benign	2 labs	2159fe1522
16:2550466 TBC1D24 G>A	16	2550466	2550466	G	A	TBC1D24	c.1500G>A	NM_001199107.2	NP_001186036.1:p.(Ala500=)	NC_000016.9:g.2550466G>A	(Likely) benign	4 labs	313cf632da
12:48389683 COL2A1 C>T	12	48389683	48389683	C	T	COL2A1	c.629G>A	NM_001844.5	NP_001835.3:p.(Gly210Glu)	NC_000012.11:g.48389683C>T	(Likely) pathogenic	2 labs	206fcb0052
4:1807894 FGFR3 G>A	4	1807894	1807894	G	A	FGFR3	c.1959G>A	NM_001163213.2	NP_001156685.1:p.(Thr653=)	NC_000004.11:g.1807894G>A	(Likely) benign	2 labs	20747e5118
6:158569886 SERAC1 T>C	6	158569886	158569886	T	C	SERAC1	c.355+11A>G	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158569886T>C	(Likely) benign	2 labs	207fabf558
1:201338994 TNNT2 G>A	1	201338994	201338994	G	A	TNNT2	c.68-1639C>T	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201338994G>A	(Likely) benign	2 labs	2083cc4f87
17:3561396 CTNS C>T	17	3561396	3561396	C	T	CTNS	c.779C>T	NM_004937.3	NP_004928.2:p.(Thr260Ile)	NC_000017.10:g.3561396C>T	(Likely) benign	3 labs	314120e0e4
5:176824078 SLC34A1 G>A	5	176824078	176824078	G	A	SLC34A1	c.1416+3G>A	NM_003052.5	NP_003043.3:p.?	NC_000005.9:g.176824078G>A	(Likely) benign	2 labs	20947ffbdd
3:123047666 ADCY5 A>G	3	123047666	123047666	A	G	ADCY5	c.1647-17T>C	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123047666A>G	(Likely) benign	2 labs	20955b915d
2:179400736 TTN A>AC	2	179400736	179400737	A	AC	TTN	c.100737dup	NM_001267550.2	NP_001254479.2:p.(Ser33580ValfsTer13)	NC_000002.11:g.179400737dup	(Likely) pathogenic	3 labs	315a73a8ba
2:179511286 TTN T>C	2	179511286	179511286	T	C	TTN	c.40223A>G	NM_001267550.2	NP_001254479.2:p.(Glu13408Gly)	NC_000002.11:g.179511286T>C	(Likely) benign	4 labs	315d5b34cd
16:2126142 TSC2 C>T	16	2126142	2126142	C	T	TSC2	c.2713C>T	NM_000548.5	NP_000539.2:p.(Arg905Trp)	NC_000016.9:g.2126142C>T	(Likely) pathogenic	2 labs	31702e71cc
13:20632790 ZMYM2 A>G	13	20632790	20632790	A	G	ZMYM2	c.2569A>G	NM_003453.6	NP_003444.1:p.(Met857Val)	NC_000013.10:g.20632790A>G	VUS	2 labs	20bbd29279
15:67546969 AAGAB T>C	15	67546969	67546969	T	C	AAGAB	c.1A>G	NM_024666.5	NP_078942.3:p.(Met1?)	NC_000015.9:g.67546969T>C	(Likely) pathogenic	2 labs	31771e73c0
11:17631751 OTOG C>T	11	17631751	17631751	C	T	OTOG	c.4940C>T	NM_001277269.2	NP_001264198.1:p.(Pro1647Leu)	NC_000011.9:g.17631751C>T	(Likely) benign	2 labs	317e3fa232
2:21231592 APOB G>A	2	21231592	21231592	G	A	APOB	c.8148C>T	NM_000384.3	NP_000375.3:p.(Ile2716=)	NC_000002.11:g.21231592G>A	(Likely) benign	2 labs	3180b1e26b
16:89619511 SPG7 C>T	16	89619511	89619511	C	T	SPG7	c.1904C>T	NM_003119.4	NP_003110.1:p.(Ser635Leu)	NC_000016.9:g.89619511C>T	VUS	2 labs	20de29f748
16:88788059 PIEZO1 C>A	16	88788059	88788059	C	A	PIEZO1	c.5290G>T	NM_001142864.4	NP_001136336.2:p.(Glu1764Ter)	NC_000016.9:g.88788059C>A	(Likely) pathogenic	2 labs	318a2a4ac2
2:109347314 RANBP2 C>G	2	109347314	109347314	C	G	RANBP2	c.225C>G	NM_006267.5	NP_006258.3:p.(Asn75Lys)	NC_000002.11:g.109347314C>G	(Likely) benign	2 labs	3190fb44e3
7:91694541 AKAP9 A>G	7	91694541	91694541	A	G	AKAP9	c.5978-4A>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91694541A>G	(Likely) benign	4 labs	31945b1d10
12:21689882 GYS2 T>A	12	21689882	21689882	T	A	GYS2	c.*6A>T	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21689882T>A	(Likely) benign	2 labs	31948e15f1
5:112175171 APC C>T	5	112175171	112175171	C	T	APC	c.3880C>T	NM_000038.6	NP_000029.2:p.(Gln1294Ter)	NC_000005.9:g.112175171C>T	(Likely) pathogenic	2 labs	211b8f1119
14:53619544 DDHD1 G>A	14	53619544	53619544	G	A	DDHD1	c.273C>T	NM_001160148.2	NP_001153620.1:p.(Phe91=)	NC_000014.8:g.53619544G>A	(Likely) benign	2 labs	319a639f23
3:38603916 SCN5A T>C	3	38603916	38603916	T	C	SCN5A	c.3953A>G	NM_198056.3	NP_932173.1:p.(Glu1318Gly)	NC_000003.11:g.38603916T>C	VUS	2 labs	31a3ecae92
10:88441479 LDB3 C>T	10	88441479	88441479	C	T	LDB3	c.608C>T	NM_001171610.2	NP_001165081.1:p.(Ser203Leu)	NC_000010.10:g.88441479C>T	VUS	2 labs	31aa6531a4
15:89415247 ACAN C>G	15	89415247	89415247	C	G	ACAN	c.7119C>G	NM_013227.4	NP_037359.3:p.(Asp2373Glu)	NC_000015.9:g.89415247C>G	(Likely) benign	2 labs	21384baed6
7:6022454 PMS2 C>T	7	6022454	6022454	C	T	PMS2	c.2174+1G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022454C>T	(Likely) pathogenic	3 labs	31b11ff601
19:55652553 TNNT1 C>T	19	55652553	55652553	C	T	TNNT1	c.276+1G>A	NM_001291774.2	NP_001278703.1:p.?	NC_000019.9:g.55652553C>T	(Likely) pathogenic	3 labs	31b4e6ed2f
2:179592594 TTN T>C	2	179592594	179592594	T	C	TTN	c.19715-4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179592594T>C	(Likely) benign	2 labs	31b78335b1
2:73677833 ALMS1 A>G	2	73677833	73677833	A	G	ALMS1	c.4182A>G	NM_015120.4	NP_055935.4:p.(Gln1394=)	NC_000002.11:g.73677833A>G	(Likely) benign	2 labs	2143b474e3
2:239990278 HDAC4 C>T	2	239990278	239990278	C	T	HDAC4	c.2761G>A	NM_006037.4	NP_006028.2:p.(Glu921Lys)	NC_000002.11:g.239990278C>T	(Likely) benign	2 labs	2148180566
10:102770082 PDZD7 T>G	10	102770082	102770082	T	G	PDZD7	c.2564A>C	NM_001195263.2	NP_001182192.1:p.(Asn855Thr)	NC_000010.10:g.102770082T>G	(Likely) benign	2 labs	2149aad50c
14:23874535 MYH6 C>T	14	23874535	23874535	C	T	MYH6	c.399G>A	NM_002471.4	NP_002462.2:p.(Val133=)	NC_000014.8:g.23874535C>T	(Likely) benign	4 labs	31cf0466ea
1:197009798 F13B A>G	1	197009798	197009798	A	G	F13B	c.1806T>C	NM_001994.3	NP_001985.2:p.(Asn602=)	NC_000001.10:g.197009798A>G	(Likely) benign	2 labs	2170697ce4
19:17953126 JAK3 TC>T	19	17953126	17953128	TC	T	JAK3	c.859del	NM_000215.4	NP_000206.2:p.(Glu287ArgfsTer13)	NC_000019.9:g.17953128del	(Likely) pathogenic	2 labs	31e027665a
11:108126967 ATM G>A	11	108126967	108126967	G	A	ATM	c.2150G>A	NM_000051.4	NP_000042.3:p.(Arg717Gln)	NC_000011.9:g.108126967G>A	VUS	2 labs	21b0446ba8
16:89598369 SPG7 G>A	16	89598369	89598369	G	A	SPG7	c.1045G>A	NM_003119.4	NP_003110.1:p.(Gly349Ser)	NC_000016.9:g.89598369G>A	(Likely) pathogenic	5 labs	31eb0de89e
2:85766429 MAT2A G>A	2	85766429	85766429	G	A	MAT2A	c.19G>A	NM_005911.6	NP_005902.1:p.(Gly7Ser)	NC_000002.11:g.85766429G>A	VUS	2 labs	31fdff64e6
10:88451790 LDB3 G>A	10	88451790	88451790	G	A	LDB3	c.1031G>A	NM_001171610.2	NP_001165081.1:p.(Arg344His)	NC_000010.10:g.88451790G>A	VUS	2 labs	21ca9f128e
9:135797301 TSC1 G>A	9	135797301	135797301	G	A	TSC1	c.568C>T	NM_000368.5	NP_000359.1:p.(Arg190Cys)	NC_000009.11:g.135797301G>A	(Likely) benign	4 labs	320cd0b091
16:88505734 ZNF469 C>T	16	88505734	88505734	C	T	ZNF469	c.11856C>T	NM_001367624.2	NP_001354553.1:p.(Ser3952=)	NC_000016.9:g.88505734C>T	(Likely) benign	3 labs	320e6b5271
10:13330402 PHYH T>C	10	13330402	13330402	T	C	PHYH	c.336A>G	NM_001037537.2	NP_001032626.1:p.(Thr112=)	NC_000010.10:g.13330402T>C	(Likely) benign	3 labs	321cd741db
19:50365626 PNKP A>G	19	50365626	50365626	A	G	PNKP	c.1029+2T>C	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365626A>G	(Likely) pathogenic	5 labs	322822a06d
12:48393722 COL2A1 G>T	12	48393722	48393722	G	T	COL2A1	c.272C>A	NM_001844.5	NP_001835.3:p.(Thr91Asn)	NC_000012.11:g.48393722G>T	VUS	2 labs	21efbbe72c
11:17414555 ABCC8 C>T	11	17414555	17414555	C	T	ABCC8	c.4729G>A	NM_000352.6	NP_000343.2:p.(Val1577Ile)	NC_000011.9:g.17414555C>T	VUS	2 labs	2208342781
3:10088409 FANCD2 TAAG>T	3	10088409	10088412	TAAG	T	FANCD2	c.1278+3_1278+5del	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10088410_10088412del	(Likely) benign	2 labs	322a9bf089
17:41231346 BRCA1 G>T	17	41231346	41231346	G	T	BRCA1	c.4423+5C>A	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41231346G>T	(Likely) benign	2 labs	222aed0eb8
3:38616853 SCN5A T>A	3	38616853	38616853	T	A	SCN5A	c.3601A>T	NM_198056.3	NP_932173.1:p.(Ile1201Phe)	NC_000003.11:g.38616853T>A	VUS	2 labs	22307939df
10:92675322 ANKRD1 G>A	10	92675322	92675322	G	A	ANKRD1	c.827C>T	NM_014391.3	NP_055206.2:p.(Ala276Val)	NC_000010.10:g.92675322G>A	(Likely) benign	6 labs	324e79376c
2:113877713 IL1RN A>C	2	113877713	113877713	A	C	IL1RN	c.-209-1312A>C	NM_173843.3	NP_776215.1:p.?	NC_000002.11:g.113877713A>C	(Likely) benign	2 labs	324f37dda2
2:179477511 TTN C>T	2	179477511	179477511	C	T	TTN	c.49937G>A	NM_001267550.2	NP_001254479.2:p.(Arg16646Gln)	NC_000002.11:g.179477511C>T	VUS	5 labs	32561b52e0
10:123274833 FGFR2 G>A	10	123274833	123274833	G	A	FGFR2	c.1085C>T	NM_000141.5	NP_000132.3:p.(Ala362Val)	NC_000010.10:g.123274833G>A	(Likely) benign	2 labs	224fa4470a
6:38998103 DNAH8 C>T	6	38998103	38998103	C	T	DNAH8	c.14059C>T	NM_001206927.2	NP_001193856.1:p.(Arg4687Ter)	NC_000006.11:g.38998103C>T	VUS	2 labs	327cd9ec40
X:11783771 MSL3 G>A	X	11783771	11783771	G	A	MSL3	c.647G>A	NM_001282174.1	NP_001269103.1:p.(Ser216Asn)	NC_000023.10:g.11783771G>A	(Likely) benign	2 labs	2259671d14
15:38614525 SPRED1 G>A	15	38614525	38614525	G	A	SPRED1	c.291G>A	NM_152594.3	NP_689807.1:p.(Lys97=)	NC_000015.9:g.38614525G>A	(Likely) benign	3 labs	22609f0ec6
11:17579783 OTOG C>A	11	17579783	17579783	C	A	OTOG	c.953C>A	NM_001277269.2	NP_001264198.1:p.(Ala318Asp)	NC_000011.9:g.17579783C>A	(Likely) benign	2 labs	2275dfd582
2:21229609 APOB C>T	2	21229609	21229609	C	T	APOB	c.10131G>A	NM_000384.3	NP_000375.3:p.(Leu3377=)	NC_000002.11:g.21229609C>T	(Likely) benign	3 labs	328593f5e4
11:32417921 WT1 A>T	11	32417921	32417921	A	T	WT1	c.1146T>A	NM_024426.6	NP_077744.4:p.(Thr382=)	NC_000011.9:g.32417921A>T	(Likely) benign	2 labs	328fbb6e62
1:154570296 ADAR G>A	1	154570296	154570296	G	A	ADAR	c.1049+8C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154570296G>A	(Likely) benign	2 labs	229f64281b
3:38645358 SCN5A C>T	3	38645358	38645358	C	T	SCN5A	c.1735G>A	NM_001099404.2	NP_001092874.1:p.(Gly579Arg)	NC_000003.11:g.38645358C>T	VUS	3 labs	32aa3dee28
13:113772995 F7 G>A	13	113772995	113772995	G	A	F7	c.1074G>A	NM_000131.4	NP_000122.1:p.(Met358Ile)	NC_000013.10:g.113772995G>A	VUS	2 labs	22b2389eb6
2:179406266 TTN C>T	2	179406266	179406266	C	T	TTN	c.97538G>A	NM_001267550.2	NP_001254479.2:p.(Arg32513His)	NC_000002.11:g.179406266C>T	(Likely) benign	5 labs	32b72da636
4:120072055 MYOZ2 G>T	4	120072055	120072055	G	T	MYOZ2	c.105G>T	NM_016599.5	NP_057683.1:p.(Lys35Asn)	NC_000004.11:g.120072055G>T	VUS	2 labs	32b8d9a186
3:122003045 CASR G>C	3	122003045	122003045	G	C	CASR	c.2274G>C	NM_001178065.2	NP_001171536.2:p.(Pro758=)	NC_000003.11:g.122003045G>C	(Likely) benign	2 labs	32c73a8736
12:6441166 TNFRSF1A C>CA	12	6441166	6441190	C	CA	TNFRSF1A	c.551+1068dup	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6441190dup	(Likely) benign	2 labs	32ca58b984
15:72105928 NR2E3 AC>A	15	72105928	72105933	AC	A	NR2E3	c.951_952=	NM_016346.4	NP_057430.1:p.(Pro317_Thr318=)	NC_000015.9:g.72105933del	(Likely) benign	2 labs	32d2a4f710
3:38648232 SCN5A A>G	3	38648232	38648232	A	G	SCN5A	c.1068T>C	NM_001099404.2	NP_001092874.1:p.(Asp356=)	NC_000003.11:g.38648232A>G	(Likely) benign	4 labs	32d2bc6e7a
3:176769378 TBL1XR1 G>A	3	176769378	176769378	G	A	TBL1XR1	c.341C>T	NM_024665.7	NP_078941.2:p.(Ala114Val)	NC_000003.11:g.176769378G>A	VUS	2 labs	22d84dd6a6
1:169511755 F5 T>C	1	169511755	169511755	T	C	F5	c.2573A>G	NM_000130.5	NP_000121.2:p.(Lys858Arg)	NC_000001.10:g.169511755T>C	(Likely) benign	2 labs	22f4a7c4bd
11:47354787 MYBPC3 C>T	11	47354787	47354787	C	T	MYBPC3	c.3288G>A	NM_000256.3	NP_000247.2:p.(Glu1096=)	NC_000011.9:g.47354787C>T	(Likely) benign	5 labs	32d77c0f9c
20:42788248 JPH2 G>A	20	42788248	42788248	G	A	JPH2	c.1169+10C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42788248G>A	(Likely) benign	5 labs	32e2eac504
X:39913172 BCOR G>C	X	39913172	39913172	G	C	BCOR	c.4841C>G	NM_017745.6	NP_060215.4:p.(Pro1614Arg)	NC_000023.10:g.39913172G>C	VUS	2 labs	2368ec12cb
16:16255424 ABCC6 G>A	16	16255424	16255424	G	A	ABCC6	c.3507-3C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16255424G>A	(Likely) benign	4 labs	32e4411eb8
3:37090471 MLH1 A>G	3	37090471	37090471	A	G	MLH1	c.2066A>G	NM_000249.4	NP_000240.1:p.(Gln689Arg)	NC_000003.11:g.37090471A>G	(Likely) benign	4 labs	32e699321e
2:179597259 TTN T>C	2	179597259	179597259	T	C	TTN	c.16529A>G	NM_001267550.2	NP_001254479.2:p.(Tyr5510Cys)	NC_000002.11:g.179597259T>C	(Likely) benign	6 labs	32e8c0a0e1
5:172662024 NKX2-5 T>C	5	172662024	172662024	T	C	NKX2-5	c.63A>G	NM_001166175.2	NP_001159647.1:p.(Glu21=)	NC_000005.9:g.172662024T>C	(Likely) benign	4 labs	32ebbe5df0
X:32328244 DMD A>G	X	32328244	32328244	A	G	DMD	c.6072T>C	NM_004006.3	NP_003997.2:p.(Cys2024=)	NC_000023.10:g.32328244A>G	(Likely) benign	3 labs	32fc93814b
19:11227525 LDLR G>A	19	11227525	11227525	G	A	LDLR	c.1706-10G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227525G>A	(Likely) benign	3 labs	330fa7e00c
18:42618473 SETBP1 G>A	18	42618473	42618473	G	A	SETBP1	c.4024G>A	NM_015559.3	NP_056374.2:p.(Val1342Met)	NC_000018.9:g.42618473G>A	VUS	2 labs	236c05c70e
5:228278 SDHA CT>C	5	228278	228287	CT	C	SDHA	c.622-13del	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228287del	(Likely) benign	2 labs	331ac80707
15:72637795 HEXA T>C	15	72637795	72637795	T	C	HEXA	c.1518A>G	NM_000520.6	NP_000511.2:p.(Glu506=)	NC_000015.9:g.72637795T>C	(Likely) benign	4 labs	331be28167
20:8769180 PLCB1 C>T	20	8769180	8769180	C	T	PLCB1	c.3188+8C>T	NM_182734.3	NP_877398.1:p.?	NC_000020.10:g.8769180C>T	(Likely) benign	2 labs	331cc73887
22:24717444 SPECC1L A>G	22	24717444	24717444	A	G	SPECC1L	c.496A>G	NM_015330.6	NP_056145.5:p.(Met166Val)	NC_000022.10:g.24717444A>G	(Likely) benign	2 labs	33265c2479
2:172305177 DCAF17 C>T	2	172305177	172305177	C	T	DCAF17	c.322-14C>T	NM_025000.4	NP_079276.2:p.?	NC_000002.11:g.172305177C>T	(Likely) benign	4 labs	332c90924e
12:125460041 DHX37 C>T	12	125460041	125460041	C	T	DHX37	c.904G>A	NM_032656.4	NP_116045.2:p.(Gly302Ser)	NC_000012.11:g.125460041C>T	VUS	2 labs	2392a4af8c
6:7559460 DSP C>T	6	7559460	7559460	C	T	DSP	c.424C>T	NM_004415.4	NP_004406.2:p.(Leu142Phe)	NC_000006.11:g.7559460C>T	VUS	2 labs	239f879a38
1:53675846 CPT2 G>A	1	53675846	53675846	G	A	CPT2	c.500G>A	NM_000098.3	NP_000089.1:p.(Arg167Gln)	NC_000001.10:g.53675846G>A	VUS	2 labs	23a957d21b
10:21177128 NEBL G>C	10	21177128	21177128	G	C	NEBL	c.267C>G	NM_006393.3	NP_006384.1:p.(Tyr89Ter)	NC_000010.10:g.21177128G>C	(Likely) benign	3 labs	3330a8c842
14:64519035 SYNE2 A>G	14	64519035	64519035	A	G	SYNE2	c.8404A>G	NM_182914.3	NP_878918.2:p.(Ser2802Gly)	NC_000014.8:g.64519035A>G	(Likely) benign	2 labs	33462222ea
19:7615903 PNPLA6 G>A	19	7615903	7615903	G	A	PNPLA6	c.2121G>A	NM_001166111.2	NP_001159583.1:p.(Pro707=)	NC_000019.9:g.7615903G>A	(Likely) benign	2 labs	23c3d4ee14
11:108151843 ATM C>A	11	108151843	108151843	C	A	ATM	c.3524C>A	NM_000051.4	NP_000042.3:p.(Ala1175Asp)	NC_000011.9:g.108151843C>A	VUS	2 labs	23ca7e9d93
1:236894607 ACTN2 T>A	1	236894607	236894607	T	A	ACTN2	c.690T>A	NM_001103.4	NP_001094.1:p.(Asp230Glu)	NC_000001.10:g.236894607T>A	VUS	2 labs	3354759017
12:993930 WNK1 C>T	12	993930	993930	C	T	WNK1	c.4740C>T	NM_001184985.2	NP_001171914.1:p.(Asn1580=)	NC_000012.11:g.993930C>T	(Likely) benign	3 labs	23d67b27eb
17:7578457 TP53 C>T	17	7578457	7578457	C	T	TP53	c.473G>A	NM_000546.6	NP_000537.3:p.(Arg158His)	NC_000017.10:g.7578457C>T	(Likely) pathogenic	4 labs	23df16ae6e
2:179614952 TTN A>G	2	179614952	179614952	A	G	TTN	c.12175T>C	NM_133379.5	NP_596870.2:p.(Leu4059=)	NC_000002.11:g.179614952A>G	(Likely) benign	2 labs	3367636bb7
13:32914094 BRCA2 GAC>G	13	32914094	32914097	GAC	G	BRCA2	c.5604_5605del	NM_000059.4	NP_000050.3:p.(Asp1868GlufsTer4)	NC_000013.10:g.32914096_32914097del	(Likely) pathogenic	2 labs	336fc235f2
2:179436350 TTN C>A	2	179436350	179436350	C	A	TTN	c.74509G>T	NM_001267550.2	NP_001254479.2:p.(Gly24837Cys)	NC_000002.11:g.179436350C>A	VUS	2 labs	d9d12091b2
11:117252489 CEP164 T>C	11	117252489	117252489	T	C	CEP164	c.1482T>C	NM_014956.5	NP_055771.4:p.(Pro494=)	NC_000011.9:g.117252489T>C	(Likely) benign	2 labs	23ed115ced
19:14877182 ADGRE2 A>G	19	14877182	14877182	A	G	ADGRE2	c.499T>C	NM_013447.4	NP_038475.2:p.(Cys167Arg)	NC_000019.9:g.14877182A>G	(Likely) benign	2 labs	3383705ec6
20:61460338 COL9A3 C>T	20	61460338	61460338	C	T	COL9A3	c.1008+10C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61460338C>T	(Likely) benign	4 labs	338bd50a08
2:202598113 ALS2 C>T	2	202598113	202598113	C	T	ALS2	c.2466G>A	NM_020919.4	NP_065970.2:p.(Val822=)	NC_000002.11:g.202598113C>T	(Likely) benign	5 labs	338f893f6f
8:134108546 SLA T>C	8	134108546	134108546	T	C	SLA	c.-319+6251A>G	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134108546T>C	(Likely) benign	2 labs	338fbb4b91
6:143095710 HIVEP2 C>T	6	143095710	143095710	C	T	HIVEP2	c.166G>A	NM_006734.4	NP_006725.3:p.(Gly56Arg)	NC_000006.11:g.143095710C>T	(Likely) benign	2 labs	2449989e99
16:9858518 GRIN2A G>A	16	9858518	9858518	G	A	GRIN2A	c.2883C>T	NM_001134407.3	NP_001127879.1:p.(Asn961=)	NC_000016.9:g.9858518G>A	(Likely) benign	2 labs	339b287b36
19:11105608 SMARCA4 T>C	19	11105608	11105608	T	C	SMARCA4	c.1524T>C	NM_001128844.3	NP_001122316.1:p.(His508=)	NC_000019.9:g.11105608T>C	(Likely) benign	2 labs	33a0afae0d
X:77245316 ATP7A T>A	X	77245316	77245316	T	A	ATP7A	c.1198T>A	NM_000052.7	NP_000043.4:p.(Ser400Thr)	NC_000023.10:g.77245316T>A	VUS	2 labs	246caca61c
18:21124953 NPC1 C>T	18	21124953	21124953	C	T	NPC1	c.1918G>A	NM_000271.5	NP_000262.2:p.(Gly640Arg)	NC_000018.9:g.21124953C>T	(Likely) pathogenic	3 labs	33aaf4e63a
3:48628920 COL7A1 C>T	3	48628920	48628920	C	T	COL7A1	c.1613G>A	NM_000094.4	NP_000085.1:p.(Arg538His)	NC_000003.11:g.48628920C>T	VUS	2 labs	2476a4ad00
5:254512 SDHA G>A	5	254512	254512	G	A	SDHA	c.1799G>A	NM_004168.4	NP_004159.2:p.(Arg600Gln)	NC_000005.9:g.254512G>A	VUS	2 labs	2498a7d4bf
1:17320259 ATP13A2 G>A	1	17320259	17320259	G	A	ATP13A2	c.1614C>T	NM_022089.4	NP_071372.1:p.(Pro538=)	NC_000001.10:g.17320259G>A	(Likely) benign	4 labs	33c7dfc738
2:233712209 GIGYF2 TCAGCAGCAGCAGCTGCCACAG>T	2	233712209	233712243	TCAGCAGCAGCAGCTGCCACAG	T	GIGYF2	c.3626_3646del	NM_015575.4	NP_056390.2:p.(Leu1209_Gln1215del)	NC_000002.11:g.233712223_233712243del	(Likely) benign	2 labs	33c93d10a9
6:24785863 GMNN A>G	6	24785863	24785863	A	G	GMNN	c.469-3A>G	NM_015895.5	NP_056979.1:p.?	NC_000006.11:g.24785863A>G	(Likely) benign	2 labs	24cd84da53
11:108114661 ATM AT>A	11	108114661	108114676	AT	A	ATM	c.497-4del	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108114676del	(Likely) benign	3 labs	33fe45cf00
2:21228012 APOB CA>C	2	21228012	21228014	CA	C	APOB	c.11727del	NM_000384.3	NP_000375.3:p.(Glu3910LysfsTer15)	NC_000002.11:g.21228014del	(Likely) pathogenic	3 labs	340b94dd30
11:6644023 DCHS1 G>A	11	6644023	6644023	G	A	DCHS1	c.8884C>T	NM_003737.4	NP_003728.1:p.(Arg2962Trp)	NC_000011.9:g.6644023G>A	VUS	3 labs	3421434d37
21:47545913 COL6A2 G>A	21	47545913	47545913	G	A	COL6A2	c.2184G>A	NM_058175.3	NP_478055.2:p.(Val728=)	NC_000021.8:g.47545913G>A	(Likely) benign	3 labs	342677c3bc
18:32400856 DTNA G>A	18	32400856	32400856	G	A	DTNA	c.978G>A	NM_001198939.2	NP_001185868.1:p.(Lys326=)	NC_000018.9:g.32400856G>A	(Likely) benign	2 labs	34301f4b57
X:119581851 LAMP2 T>A	X	119581851	119581851	T	A	LAMP2	c.586A>T	NM_002294.3	NP_002285.1:p.(Thr196Ser)	NC_000023.10:g.119581851T>A	(Likely) benign	4 labs	3447f07f18
20:42814931 JPH2 T>C	20	42814931	42814931	T	C	JPH2	c.379+36A>G	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42814931T>C	(Likely) benign	2 labs	256357bb3e
3:47163971 SETD2 T>C	3	47163971	47163971	T	C	SETD2	c.2155A>G	NM_014159.7	NP_054878.5:p.(Asn719Asp)	NC_000003.11:g.47163971T>C	(Likely) benign	2 labs	25659a9347
X:32662396 DMD C>T	X	32662396	32662396	C	T	DMD	c.1184G>A	NM_004006.3	NP_003997.2:p.(Arg395Gln)	NC_000023.10:g.32662396C>T	(Likely) benign	2 labs	256cb088fa
15:89400023 ACAN A>G	15	89400023	89400023	A	G	ACAN	c.4207A>G	NM_013227.4	NP_037359.3:p.(Thr1403Ala)	NC_000015.9:g.89400023A>G	(Likely) benign	2 labs	2578741d42
9:711467 KANK1 C>G	9	711467	711467	C	G	KANK1	c.701C>G	NM_015158.5	NP_055973.2:p.(Ser234Cys)	NC_000009.11:g.711467C>G	VUS	2 labs	258fce0626
11:47363543 MYBPC3 G>A	11	47363543	47363543	G	A	MYBPC3	c.1789C>T	NM_000256.3	NP_000247.2:p.(Arg597Trp)	NC_000011.9:g.47363543G>A	VUS	2 labs	259487889f
11:108100055 ATM G>A	11	108100055	108100055	G	A	ATM	c.331+5G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108100055G>A	(Likely) pathogenic	4 labs	25a4e3a70d
X:47070536 UBA1 G>A	X	47070536	47070536	G	A	UBA1	c.2376G>A	NM_003334.4	NP_003325.2:p.(Gln792=)	NC_000023.10:g.47070536G>A	(Likely) benign	2 labs	3468223644
2:172336541 DCAF17 C>T	2	172336541	172336541	C	T	DCAF17	c.1267-7C>T	NM_025000.4	NP_079276.2:p.?	NC_000002.11:g.172336541C>T	(Likely) benign	3 labs	346897bf0c
2:179612913 TTN G>A	2	179612913	179612913	G	A	TTN	c.14214C>T	NM_133379.5	NP_596870.2:p.(Thr4738=)	NC_000002.11:g.179612913G>A	(Likely) benign	5 labs	3480c0d57a
2:219678911 CYP27A1 G>A	2	219678911	219678911	G	A	CYP27A1	c.1184+1G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219678911G>A	(Likely) pathogenic	3 labs	3487ce31c2
1:235543476 TBCE TTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTG	T	TBCE	c.100+50_100+65del	NM_001079515.3	NP_001072983.1:p.?	NC_000001.10:g.235543514_235543529del	(Likely) benign	3 labs	34936eafa1
4:6296854 WFS1 G>A	4	6296854	6296854	G	A	WFS1	c.799G>A	NM_006005.3	NP_005996.2:p.(Asp267Asn)	NC_000004.11:g.6296854G>A	VUS	3 labs	25e8abe4ed
2:170099895 LRP2 A>C	2	170099895	170099895	A	C	LRP2	c.3550+18T>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170099895A>C	(Likely) benign	2 labs	25ea35bc78
6:26104342 H4C3 G>A	6	26104342	26104342	G	A	H4C3	c.167G>A	NM_003542.4	NP_003533.1:p.(Arg56Gln)	NC_000006.11:g.26104342G>A	VUS	2 labs	25ea6f7df3
5:176813404 SLC34A1 C>T	5	176813404	176813404	C	T	SLC34A1	c.389-20C>T	NM_003052.5	NP_003043.3:p.?	NC_000005.9:g.176813404C>T	(Likely) benign	2 labs	25ed118da5
16:29825015 PRRT2 G>GC	16	29825015	29825024	G	GC	PRRT2	c.649dup	NM_001256443.2	NP_001243372.1:p.(Arg217ProfsTer8)	NC_000016.9:g.29825024dup	(Likely) pathogenic	5 labs	34afc6802c
12:6442671 TNFRSF1A C>T	12	6442671	6442671	C	T	TNFRSF1A	c.334G>A	NM_001065.4	NP_001056.1:p.(Val112Met)	NC_000012.11:g.6442671C>T	VUS	3 labs	34b88b4547
6:7565727 DSP A>T	6	7565727	7565727	A	T	DSP	c.913A>T	NM_004415.4	NP_004406.2:p.(Ile305Phe)	NC_000006.11:g.7565727A>T	(Likely) benign	6 labs	34bf06da43
17:42285229 UBTF C>T	17	42285229	42285229	C	T	UBTF	c.1953+3G>A	NM_014233.4	NP_055048.1:p.?	NC_000017.10:g.42285229C>T	(Likely) benign	2 labs	2622a68ff1
X:153296082 MECP2 G>A	X	153296082	153296082	G	A	MECP2	c.1197C>T	NM_004992.4	NP_004983.1:p.(Pro399=)	NC_000023.10:g.153296082G>A	(Likely) benign	4 labs	34e49eab93
2:21234047 APOB G>C	2	21234047	21234047	G	C	APOB	c.5693C>G	NM_000384.3	NP_000375.3:p.(Ser1898Cys)	NC_000002.11:g.21234047G>C	VUS	2 labs	34f88a5434
3:133486958 TF G>C	3	133486958	133486958	G	C	TF	c.1572G>C	NM_001063.4	NP_001054.2:p.(Leu524=)	NC_000003.11:g.133486958G>C	(Likely) benign	2 labs	2652f41206
9:86586259 HNRNPK C>T	9	86586259	86586259	C	T	HNRNPK	c.1021G>A	NM_002140.5	NP_002131.2:p.(Ala341Thr)	NC_000009.11:g.86586259C>T	(Likely) benign	2 labs	266994f306
14:23874523 MYH6 C>T	14	23874523	23874523	C	T	MYH6	c.411G>A	NM_002471.4	NP_002462.2:p.(Glu137=)	NC_000014.8:g.23874523C>T	(Likely) benign	4 labs	350d905366
3:148917570 CP G>A	3	148917570	148917570	G	A	CP	c.1430C>T	NM_000096.4	NP_000087.2:p.(Pro477Leu)	NC_000003.11:g.148917570G>A	(Likely) benign	3 labs	2684f6cea6
2:88883014 EIF2AK3 T>A	2	88883014	88883014	T	A	EIF2AK3	c.1697A>T	NM_004836.7	NP_004827.4:p.(Asp566Val)	NC_000002.11:g.88883014T>A	VUS	3 labs	35228025b9
8:126088676 WASHC5 C>T	8	126088676	126088676	C	T	WASHC5	c.778G>A	NM_014846.4	NP_055661.3:p.(Val260Met)	NC_000008.10:g.126088676C>T	VUS	3 labs	352283e672
21:36259172 RUNX1 G>A	21	36259172	36259172	G	A	RUNX1	c.319C>T	NM_001754.5	NP_001745.2:p.(Arg107Cys)	NC_000021.8:g.36259172G>A	(Likely) pathogenic	2 labs	26b1882631
X:102192995 RAB40AL AAAG>A	X	102192995	102192998	AAAG	A	RAB40AL	c.750_752del	NM_001031834.1	NP_001027004.1:p.(Arg251del)	NC_000023.10:g.102192996_102192998del	VUS	2 labs	354b45e9dd
20:18529233 SEC23B T>A	20	18529233	18529233	T	A	SEC23B	c.1744-20T>A	NM_032985.6	NP_116780.1:p.?	NC_000020.10:g.18529233T>A	(Likely) benign	2 labs	26d13adcf3
11:118376290 KMT2A G>A	11	118376290	118376290	G	A	KMT2A	c.9683G>A	NM_001197104.2	NP_001184033.1:p.(Arg3228His)	NC_000011.9:g.118376290G>A	VUS	2 labs	26d14d888e
1:237604747 RYR2 C>T	1	237604747	237604747	C	T	RYR2	c.1134C>T	NM_001035.3	NP_001026.2:p.(Asp378=)	NC_000001.10:g.237604747C>T	(Likely) benign	5 labs	35669ddce4
6:157099425 ARID1B A>AGC	6	157099425	157099426	A	AGC	ARID1B	c.611_612insGC	NM_001371656.1	NP_001358585.1:p.(Gln205HisfsTer59)	NC_000006.11:g.157099425_157099426insGC	(Likely) benign	2 labs	357a2a4ebc
X:153608116 EMD C>A	X	153608116	153608116	C	A	EMD	c.149C>A	NM_000117.3	NP_000108.1:p.(Pro50His)	NC_000023.10:g.153608116C>A	VUS	2 labs	270b595ec0
13:32930599 BRCA2 AC>A	13	32930599	32930600	AC	A	BRCA2	c.7471del	NM_000059.4	NP_000050.3:p.(Gln2491ArgfsTer33)	NC_000013.10:g.32930600del	(Likely) pathogenic	2 labs	358b6d36a4
14:36987165 NKX2-1 G>T	14	36987165	36987165	G	T	NKX2-1	c.524C>A	NM_001079668.3	NP_001073136.1:p.(Ser175Ter)	NC_000014.8:g.36987165G>T	(Likely) pathogenic	2 labs	27269da63d
X:66766162 AR C>T	X	66766162	66766162	C	T	AR	c.1174C>T	NM_000044.6	NP_000035.2:p.(Pro392Ser)	NC_000023.10:g.66766162C>T	(Likely) benign	5 labs	35a7ceb5f9
13:52520465 ATP7B G>A	13	52520465	52520465	G	A	ATP7B	c.3015C>T	NM_000053.4	NP_000044.2:p.(Asn1005=)	NC_000013.10:g.52520465G>A	(Likely) benign	2 labs	35b079b4e6
9:79862319 VPS13A C>A	9	79862319	79862319	C	A	VPS13A	c.2037+8C>A	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79862319C>A	(Likely) benign	2 labs	35b5d72cc2
13:32972743 BRCA2 G>GTGAATTATA	13	32972743	32972745	G	GTGAATTATA	BRCA2	c.10094_10095insGAATTATAT	NM_000059.4	NP_000050.3:p.(Val3365_Ser3366insAsnTyrIle)	NC_000013.10:g.32972744_32972745insGAATTATAT	VUS	2 labs	35ba8bcd85
7:83606518 SEMA3A G>A	7	83606518	83606518	G	A	SEMA3A	c.1653-6C>T	NM_006080.3	NP_006071.1:p.?	NC_000007.13:g.83606518G>A	(Likely) benign	2 labs	273c79b8b8
1:168262448 TBX19 C>T	1	168262448	168262448	C	T	TBX19	c.535C>T	NM_005149.3	NP_005140.1:p.(Arg179Ter)	NC_000001.10:g.168262448C>T	(Likely) pathogenic	2 labs	273ed87e7d
10:13340236 PHYH G>A	10	13340236	13340236	G	A	PHYH	c.85C>T	NM_006214.4	NP_006205.1:p.(Pro29Ser)	NC_000010.10:g.13340236G>A	(Likely) benign	2 labs	35c01b54ae
3:148896287 CP T>C	3	148896287	148896287	T	C	CP	c.2793A>G	NM_000096.4	NP_000087.2:p.(Leu931=)	NC_000003.11:g.148896287T>C	(Likely) benign	3 labs	35c73231ea
9:135781317 TSC1 G>C	9	135781317	135781317	G	C	TSC1	c.1648C>G	NM_000368.5	NP_000359.1:p.(Gln550Glu)	NC_000009.11:g.135781317G>C	(Likely) benign	4 labs	35c7f452ef
2:179397514 TTN G>A	2	179397514	179397514	G	A	TTN	c.103828C>T	NM_001267550.2	NP_001254479.2:p.(Arg34610Cys)	NC_000002.11:g.179397514G>A	VUS	2 labs	35d1613749
5:140905989 DIAPH1 G>A	5	140905989	140905989	G	A	DIAPH1	c.3313C>T	NM_005219.5	NP_005210.3:p.(Arg1105Trp)	NC_000005.9:g.140905989G>A	VUS	2 labs	27666134d2
9:94495608 ROR2 T>C	9	94495608	94495608	T	C	ROR2	c.733A>G	NM_004560.4	NP_004551.2:p.(Thr245Ala)	NC_000009.11:g.94495608T>C	(Likely) benign	2 labs	277cfdc854
17:33430520 RAD51D G>A	17	33430520	33430520	G	A	RAD51D	c.620C>T	NM_002878.4	NP_002869.3:p.(Ser207Leu)	NC_000017.10:g.33430520G>A	(Likely) pathogenic	2 labs	278fcfe204
5:140953563 DIAPH1 TGGA>T	5	140953563	140953597	TGGA	T	DIAPH1	c.1851_1853del	NM_005219.5	NP_005210.3:p.(Pro620del)	NC_000005.9:g.140953595_140953597del	(Likely) benign	3 labs	35dae98e02
22:32871120 FBXO7 G>A	22	32871120	32871120	G	A	FBXO7	c.122+9G>A	NM_012179.4	NP_036311.3:p.?	NC_000022.10:g.32871120G>A	(Likely) benign	2 labs	35df73a985
X:48382334 EBP G>A	X	48382334	48382334	G	A	EBP	c.175G>A	NM_006579.3	NP_006570.1:p.(Gly59Arg)	NC_000023.10:g.48382334G>A	VUS	2 labs	279acfff95
19:50143211 RRAS A>G	19	50143211	50143211	A	G	RRAS	c.145T>C	NM_006270.5	NP_006261.1:p.(Phe49Leu)	NC_000019.9:g.50143211A>G	(Likely) benign	2 labs	27adda9d4e
1:1470872 TMEM240 C>T	1	1470872	1470872	C	T	TMEM240	c.389G>A	NM_001114748.2	NP_001108220.1:p.(Trp130Ter)	NC_000001.10:g.1470872C>T	VUS	2 labs	27b20ffd14
8:90983475 NBN C>A	8	90983475	90983475	C	A	NBN	c.628G>T	NM_002485.5	NP_002476.2:p.(Val210Phe)	NC_000008.10:g.90983475C>A	(Likely) benign	4 labs	35f200a6eb
11:103057048 DYNC2H1 A>G	11	103057048	103057048	A	G	DYNC2H1	c.6711A>G	NM_001080463.2	NP_001073932.1:p.(Arg2237=)	NC_000011.9:g.103057048A>G	(Likely) benign	3 labs	35f554f39d
X:22010795 SMS A>C	X	22010795	22010795	A	C	SMS	c.1026A>C	NM_004595.5	NP_004586.2:p.(Ser342=)	NC_000023.10:g.22010795A>C	(Likely) benign	3 labs	3601ebfda2
11:47372054 MYBPC3 T>C	11	47372054	47372054	T	C	MYBPC3	c.405A>G	NM_000256.3	NP_000247.2:p.(Lys135=)	NC_000011.9:g.47372054T>C	(Likely) benign	2 labs	27cae3a8ee
9:97369151 FBP1 G>A	9	97369151	97369151	G	A	FBP1	c.651C>T	NM_000507.4	NP_000498.2:p.(Ala217=)	NC_000009.11:g.97369151G>A	(Likely) benign	2 labs	27d5d4e085
9:79931101 VPS13A G>A	9	79931101	79931101	G	A	VPS13A	c.4642G>A	NM_033305.3	NP_150648.2:p.(Glu1548Lys)	NC_000009.11:g.79931101G>A	(Likely) benign	3 labs	360d2a0ba4
7:91691601 AKAP9 C>T	7	91691601	91691601	C	T	AKAP9	c.5778C>T	NM_005751.5	NP_005742.4:p.(Gly1926=)	NC_000007.13:g.91691601C>T	(Likely) benign	2 labs	27ed399569
6:152847284 SYNE1 A>G	6	152847284	152847284	A	G	SYNE1	c.156T>C	NM_182961.4	NP_892006.3:p.(Asp52=)	NC_000006.11:g.152847284A>G	(Likely) benign	3 labs	3621829b15
6:50791584 TFAP2B C>CACAA	6	50791584	50791609	C	CACAA	TFAP2B	c.540+28_540+31dup	NM_003221.4	NP_003212.2:p.?	NC_000006.11:g.50791606_50791609dup	(Likely) benign	2 labs	362c86b6ef
17:18077175 MYO15A T>C	17	18077175	18077175	T	C	MYO15A	c.10431T>C	NM_016239.4	NP_057323.3:p.(Tyr3477=)	NC_000017.10:g.18077175T>C	(Likely) benign	2 labs	2808031314
2:179575826 TTN T>C	2	179575826	179575826	T	C	TTN	c.28137A>G	NM_001267550.2	NP_001254479.2:p.(Ile9379Met)	NC_000002.11:g.179575826T>C	VUS	4 labs	36384189f3
17:10542471 MYH3 T>G	17	10542471	10542471	T	G	MYH3	c.3138A>C	NM_002470.4	NP_002461.2:p.(Arg1046=)	NC_000017.10:g.10542471T>G	(Likely) benign	3 labs	363b33c2fb
15:90176073 KIF7 C>A	15	90176073	90176073	C	A	KIF7	c.2873G>T	NM_198525.3	NP_940927.2:p.(Ser958Ile)	NC_000015.9:g.90176073C>A	(Likely) benign	5 labs	3643003037
1:114438448 AP4B1 T>C	1	114438448	114438448	T	C	AP4B1	c.1723A>G	NM_006594.5	NP_006585.2:p.(Ile575Val)	NC_000001.10:g.114438448T>C	(Likely) benign	2 labs	36443d3698
19:18186575 IL12RB1 G>A	19	18186575	18186575	G	A	IL12RB1	c.684C>T	NM_005535.3	NP_005526.1:p.(Pro228=)	NC_000019.9:g.18186575G>A	(Likely) benign	2 labs	28484f1e00
9:35091801 PIGO TGAGATTACCATAGC>T	9	35091801	35091816	TGAGATTACCATAGC	T	PIGO	c.2069_2082del	NM_032634.4	NP_116023.2:p.(Arg690GlnfsTer33)	NC_000009.11:g.35091803_35091816del	(Likely) pathogenic	3 labs	36525ff6d7
2:179393523 TTN C>T	2	179393523	179393523	C	T	TTN	c.106955G>A	NM_001267550.2	NP_001254479.2:p.(Arg35652Gln)	NC_000002.11:g.179393523C>T	VUS	3 labs	365ce14088
19:18273047 PIK3R2 T>C	19	18273047	18273047	T	C	PIK3R2	c.937T>C	NM_005027.4	NP_005018.2:p.(Ser313Pro)	NC_000019.9:g.18273047T>C	(Likely) benign	3 labs	36622bbf7b
13:32906480 BRCA2 A>C	13	32906480	32906480	A	C	BRCA2	c.865A>C	NM_000059.4	NP_000050.3:p.(Asn289His)	NC_000013.10:g.32906480A>C	(Likely) benign	7 labs	36664a9a4f
20:33586120 MYH7B G>A	20	33586120	33586120	G	A	MYH7B	c.3896G>A	NM_020884.5	NP_065935.3:p.(Arg1299Gln)	NC_000020.10:g.33586120G>A	VUS	2 labs	28706c9c5b
5:126792974 MEGF10 T>A	5	126792974	126792974	T	A	MEGF10	c.3387T>A	NM_032446.3	NP_115822.1:p.(Gly1129=)	NC_000005.9:g.126792974T>A	(Likely) benign	2 labs	287626f916
16:89167404 ACSF3 T>C	16	89167404	89167404	T	C	ACSF3	c.315T>C	NM_001243279.3	NP_001230208.1:p.(Asp105=)	NC_000016.9:g.89167404T>C	(Likely) benign	2 labs	2889d471d6
4:5743509 EVC C>T	4	5743509	5743509	C	T	EVC	c.769C>T	NM_153717.3	NP_714928.1:p.(Leu257=)	NC_000004.11:g.5743509C>T	(Likely) benign	2 labs	28914a30c5
15:89399110 ACAN C>T	15	89399110	89399110	C	T	ACAN	c.3294C>T	NM_013227.4	NP_037359.3:p.(Thr1098=)	NC_000015.9:g.89399110C>T	(Likely) benign	2 labs	28960bf377
22:37462926 TMPRSS6 G>A	22	37462926	37462926	G	A	TMPRSS6	c.2190C>T	NM_153609.4	NP_705837.2:p.(Tyr730=)	NC_000022.10:g.37462926G>A	(Likely) benign	2 labs	28a67ad6d5
1:152280331 FLG G>C	1	152280331	152280331	G	C	FLG	c.7031C>G	NM_002016.2	NP_002007.1:p.(Ser2344Ter)	NC_000001.10:g.152280331G>C	(Likely) pathogenic	2 labs	28afd97a31
17:33446133 RAD51D G>C	17	33446133	33446133	G	C	RAD51D	c.141C>G	NM_002878.4	NP_002869.3:p.(Tyr47Ter)	NC_000017.10:g.33446133G>C	(Likely) pathogenic	3 labs	28d6c0ed8f
6:7247212 RREB1 C>CGGCCCCGGGTGCCGGGGA	6	7247212	7247238	C	CGGCCCCGGGTGCCGGGGA	RREB1	c.4538_4555dup	NM_001003699.4	NP_001003699.1:p.(Gly1513_Pro1518dup)	NC_000006.11:g.7247221_7247238dup	VUS	2 labs	36ab8bfe20
1:214791982 CENPF C>T	1	214791982	214791982	C	T	CENPF	c.426C>T	NM_016343.4	NP_057427.3:p.(Cys142=)	NC_000001.10:g.214791982C>T	(Likely) benign	2 labs	36c3b0fb57
8:100729474 VPS13B G>A	8	100729474	100729474	G	A	VPS13B	c.6605G>A	NM_017890.5	NP_060360.3:p.(Arg2202His)	NC_000008.10:g.100729474G>A	VUS	2 labs	28f39ea58d
12:51126173 DIP2B G>A	12	51126173	51126173	G	A	DIP2B	c.3835G>A	NM_173602.3	NP_775873.2:p.(Val1279Ile)	NC_000012.11:g.51126173G>A	(Likely) benign	2 labs	28f9d0f8a2
2:166226663 SCN2A C>T	2	166226663	166226663	C	T	SCN2A	c.3703C>T	NM_021007.3	NP_066287.2:p.(Arg1235Ter)	NC_000002.11:g.166226663C>T	(Likely) pathogenic	2 labs	36e60d1e85
19:11224401 LDLR T>C	19	11224401	11224401	T	C	LDLR	c.1549T>C	NM_000527.5	NP_000518.1:p.(Ser517Pro)	NC_000019.9:g.11224401T>C	(Likely) pathogenic	2 labs	292528b07c
10:122663629 WDR11 C>T	10	122663629	122663629	C	T	WDR11	c.3002C>T	NM_018117.12	NP_060587.8:p.(Thr1001Ile)	NC_000010.10:g.122663629C>T	(Likely) benign	2 labs	2929c03a45
15:90174789 KIF7 C>T	15	90174789	90174789	C	T	KIF7	c.3048G>A	NM_198525.3	NP_940927.2:p.(Ser1016=)	NC_000015.9:g.90174789C>T	(Likely) benign	5 labs	370c410094
9:136305530 ADAMTS13 C>G	9	136305530	136305530	C	G	ADAMTS13	c.1852C>G	NM_139025.5	NP_620594.1:p.(Pro618Ala)	NC_000009.11:g.136305530C>G	(Likely) benign	2 labs	2944ef64a4
7:4827263 AP5Z1 A>G	7	4827263	4827263	A	G	AP5Z1	c.1312-2A>G	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4827263A>G	VUS	2 labs	3727090544
10:95123718 MYOF C>T	10	95123718	95123718	C	T	MYOF	c.2868G>A	NM_013451.4	NP_038479.1:p.(Ala956=)	NC_000010.10:g.95123718C>T	(Likely) benign	2 labs	373682a956
2:179595442 TTN A>G	2	179595442	179595442	A	G	TTN	c.17818T>C	NM_001267550.2	NP_001254479.2:p.(Cys5940Arg)	NC_000002.11:g.179595442A>G	VUS	3 labs	373a33fe06
16:4940185 PPL C>T	16	4940185	4940185	C	T	PPL	c.2313G>A	NM_002705.5	NP_002696.4:p.(Lys771=)	NC_000016.9:g.4940185C>T	VUS	2 labs	2961fa70fd
17:18065888 MYO15A T>C	17	18065888	18065888	T	C	MYO15A	c.9518-11T>C	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18065888T>C	(Likely) benign	2 labs	296b2da005
11:111782284 CRYAB C>T	11	111782284	111782284	C	T	CRYAB	c.165G>A	NM_001885.3	NP_001876.1:p.(Leu55=)	NC_000011.9:g.111782284C>T	(Likely) benign	5 labs	373e168fb4
6:112537682 LAMA4 A>G	6	112537682	112537682	A	G	LAMA4	c.196-12T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112537682A>G	(Likely) benign	4 labs	373fcbb7a5
2:179458960 TTN G>A	2	179458960	179458960	G	A	TTN	c.58160C>T	NM_001267550.2	NP_001254479.2:p.(Thr19387Met)	NC_000002.11:g.179458960G>A	VUS	2 labs	374101fe8e
16:89348973 ANKRD11 G>A	16	89348973	89348973	G	A	ANKRD11	c.3977C>T	NM_013275.6	NP_037407.4:p.(Thr1326Met)	NC_000016.9:g.89348973G>A	(Likely) benign	2 labs	29a271e506
10:73270906 CDH23 T>C	10	73270906	73270906	T	C	CDH23	c.366T>C	NM_022124.6	NP_071407.4:p.(Val122=)	NC_000010.10:g.73270906T>C	(Likely) benign	2 labs	29ac49bca5
22:17690428 ADA2 C>A	22	17690428	17690428	C	A	ADA2	c.140G>T	NM_001282225.2	NP_001269154.1:p.(Gly47Val)	NC_000022.10:g.17690428C>A	(Likely) pathogenic	5 labs	37740f3e60
8:41553928 ANK1 C>G	8	41553928	41553928	C	G	ANK1	c.3036G>C	NM_001142446.2	NP_001135918.1:p.(Leu1012=)	NC_000008.10:g.41553928C>G	(Likely) benign	2 labs	37847c2502
15:72638612 HEXA T>A	15	72638612	72638612	T	A	HEXA	c.1385A>T	NM_000520.6	NP_000511.2:p.(Glu462Val)	NC_000015.9:g.72638612T>A	(Likely) pathogenic	2 labs	29e034a660
2:233407120 CHRNG C>T	2	233407120	233407120	C	T	CHRNG	c.507-13C>T	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233407120C>T	(Likely) benign	2 labs	29e1a20ea7
3:52487999 TNNC1 G>C	3	52487999	52487999	G	C	TNNC1	c.24+9C>G	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52487999G>C	(Likely) benign	2 labs	37910ccb9e
14:23858273 MYH6 G>C	14	23858273	23858273	G	C	MYH6	c.3979-9C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858273G>C	(Likely) benign	3 labs	379c92c428
21:45708277 AIRE C>T	21	45708277	45708277	C	T	AIRE	c.588C>T	NM_000383.4	NP_000374.1:p.(Ser196=)	NC_000021.8:g.45708277C>T	(Likely) benign	3 labs	37a6a27ba1
2:179588813 TTN C>T	2	179588813	179588813	C	T	TTN	c.21173G>A	NM_001267550.2	NP_001254479.2:p.(Gly7058Asp)	NC_000002.11:g.179588813C>T	(Likely) benign	6 labs	37b3a9c263
18:52896116 TCF4 G>A	18	52896116	52896116	G	A	TCF4	c.1841C>T	NM_001083962.2	NP_001077431.1:p.(Ala614Val)	NC_000018.9:g.52896116G>A	(Likely) pathogenic	3 labs	37baa8f36a
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer31)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTG	(Likely) benign	2 labs	37c235f2ae
2:179577876 TTN G>T	2	179577876	179577876	G	T	TTN	c.26985C>A	NM_001267550.2	NP_001254479.2:p.(Asp8995Glu)	NC_000002.11:g.179577876G>T	VUS	2 labs	37d00d12b2
8:144996451 PLEC T>G	8	144996451	144996451	T	G	PLEC	c.7619A>C	NM_000445.5	NP_000436.2:p.(Lys2540Thr)	NC_000008.10:g.144996451T>G	VUS	2 labs	2a3300916c
4:15513004 CC2D2A GGAA>G	4	15513004	15513016	GGAA	G	CC2D2A	c.685_687del	NM_001080522.2	NP_001073991.2:p.(Glu229del)	NC_000004.11:g.15513014_15513016del	(Likely) benign	4 labs	37dc7880d4
20:741847 SLC52A3 A>G	20	741847	741847	A	G	SLC52A3	c.1233T>C	NM_033409.4	NP_212134.3:p.(Ser411=)	NC_000020.10:g.741847A>G	(Likely) benign	2 labs	37e49a31dd
12:49437536 KMT2D G>T	12	49437536	49437536	G	T	KMT2D	c.5349C>A	NM_003482.4	NP_003473.3:p.(Asp1783Glu)	NC_000012.11:g.49437536G>T	VUS	2 labs	37e8c3f924
7:128488872 FLNC C>G	7	128488872	128488872	C	G	FLNC	c.4763C>G	NM_001458.5	NP_001449.3:p.(Ala1588Gly)	NC_000007.13:g.128488872C>G	VUS	4 labs	37eef17300
8:48732074 PRKDC TAA>T	8	48732074	48732095	TAA	T	PRKDC	c.9337-5_9337-4del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48732094_48732095del	(Likely) benign	2 labs	37f281edbe
12:112926882 PTPN11 G>A	12	112926882	112926882	G	A	PTPN11	c.1502G>A	NM_002834.5	NP_002825.3:p.(Arg501Lys)	NC_000012.11:g.112926882G>A	(Likely) pathogenic	3 labs	37f6456b69
6:158571501 SERAC1 G>A	6	158571501	158571501	G	A	SERAC1	c.249C>T	NM_032861.4	NP_116250.3:p.(Asp83=)	NC_000006.11:g.158571501G>A	(Likely) benign	2 labs	2a47dc0c96
5:112176756 APC T>A	5	112176756	112176756	T	A	APC	c.5465T>A	NM_000038.6	NP_000029.2:p.(Val1822Asp)	NC_000005.9:g.112176756T>A	(Likely) benign	3 labs	380053d8b6
6:112457390 LAMA4 C>T	6	112457390	112457390	C	T	LAMA4	c.3349G>A	NM_001105206.3	NP_001098676.2:p.(Gly1117Ser)	NC_000006.11:g.112457390C>T	(Likely) benign	3 labs	3803a6a81e
4:114275243 ANK2 C>T	4	114275243	114275243	C	T	ANK2	c.5469C>T	NM_001148.6	NP_001139.3:p.(Pro1823=)	NC_000004.11:g.114275243C>T	(Likely) benign	2 labs	381e9691da
1:186276588 PRG4 T>C	1	186276588	186276588	T	C	PRG4	c.1737T>C	NM_005807.6	NP_005798.3:p.(Thr579=)	NC_000001.10:g.186276588T>C	(Likely) benign	3 labs	3821a2f621
6:10587038 GCNT2 C>G	6	10587038	10587038	C	G	GCNT2	c.816C>G	NM_145655.4	NP_663630.2:p.(Asp272Glu)	NC_000006.11:g.10587038C>G	(Likely) benign	2 labs	2aa4e9e251
18:21123536 NPC1 TA>T	18	21123536	21123554	TA	T	NPC1	c.2131-4del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21123554del	(Likely) benign	3 labs	382f4440cb
5:176836585 F12 C>G	5	176836585	176836585	C	G	F12				NC_000005.9:g.176836585C>G	(Likely) benign	2 labs	2ace2b8e93
6:43573049 POLH G>A	6	43573049	43573049	G	A	POLH	c.1067G>A	NM_006502.3	NP_006493.1:p.(Arg356Gln)	NC_000006.11:g.43573049G>A	VUS	2 labs	2ad2cf373d
3:10089723 FANCD2 G>A	3	10089723	10089723	G	A	FANCD2	c.1401G>A	NM_033084.6	NP_149075.2:p.(Thr467=)	NC_000003.11:g.10089723G>A	(Likely) benign	2 labs	383cc2b8eb
18:21140432 NPC1 T>C	18	21140432	21140432	T	C	NPC1	c.644A>G	NM_000271.5	NP_000262.2:p.(His215Arg)	NC_000018.9:g.21140432T>C	(Likely) benign	4 labs	3866be340f
11:108160512 ATM C>G	11	108160512	108160512	C	G	ATM	c.4420C>G	NM_000051.4	NP_000042.3:p.(His1474Asp)	NC_000011.9:g.108160512C>G	VUS	4 labs	387305910b
1:2340200 PEX10 T>C	1	2340200	2340200	T	C	PEX10	c.291A>G	NM_153818.2	NP_722540.1:p.(Thr97=)	NC_000001.10:g.2340200T>C	(Likely) benign	2 labs	387b4dc1ed
11:94533068 AMOTL1 C>T	11	94533068	94533068	C	T	AMOTL1	c.712C>T	NM_130847.3	NP_570899.1:p.(Arg238Cys)	NC_000011.9:g.94533068C>T	(Likely) benign	2 labs	3890c255f5
17:29482988 NF1 CT>C	17	29482988	29482997	CT	C	NF1	c.61-4del	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29482997del	(Likely) benign	3 labs	3896de02cd
2:179475750 TTN C>G	2	179475750	179475750	C	G	TTN	c.51106G>C	NM_001267550.2	NP_001254479.2:p.(Ala17036Pro)	NC_000002.11:g.179475750C>G	VUS	2 labs	3898294104
19:18980172 GDF1 G>A	19	18980172	18980172	G	A	GDF1	c.353C>T	NM_001492.6	NP_001483.3:p.(Ala118Val)	NC_000019.9:g.18980172G>A	(Likely) benign	4 labs	38a1ccd555
7:87079406 ABCB4 T>A	7	87079406	87079406	T	A	ABCB4	c.711A>T	NM_018849.3	NP_061337.1:p.(Ile237=)	NC_000007.13:g.87079406T>A	(Likely) benign	2 labs	2b31807e43
2:220421417 OBSL1 C>G	2	220421417	220421417	C	G	OBSL1	c.4095G>C	NM_015311.3	NP_056126.1:p.(Glu1365Asp)	NC_000002.11:g.220421417C>G	(Likely) benign	2 labs	2b4cb5eb9a
10:61802477 ANK3 C>T	10	61802477	61802477	C	T	ANK3	c.13106G>A	NM_020987.5	NP_066267.2:p.(Arg4369Gln)	NC_000010.10:g.61802477C>T	(Likely) benign	2 labs	38a5d790b5
6:110098237 FIG4 C>A	6	110098237	110098237	C	A	FIG4	c.1863C>A	NM_014845.6	NP_055660.1:p.(Thr621=)	NC_000006.11:g.110098237C>A	(Likely) benign	2 labs	38a66deb61
2:220285041 DES C>T	2	220285041	220285041	C	T	DES	c.708C>T	NM_001927.4	NP_001918.3:p.(Ile236=)	NC_000002.11:g.220285041C>T	(Likely) benign	2 labs	38acff14ed
9:139412197 NOTCH1 G>A	9	139412197	139412197	G	A	NOTCH1	c.1441+7C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139412197G>A	(Likely) benign	3 labs	38b7cb39ea
1:44365273 ST3GAL3 C>T	1	44365273	44365273	C	T	ST3GAL3	c.825C>T	NM_174963.5	NP_777623.2:p.(Arg275=)	NC_000001.10:g.44365273C>T	(Likely) benign	4 labs	38b9395a4c
6:152668211 SYNE1 A>G	6	152668211	152668211	A	G	SYNE1	c.12061T>C	NM_182961.4	NP_892006.3:p.(Cys4021Arg)	NC_000006.11:g.152668211A>G	(Likely) benign	4 labs	38c9f8738f
1:115829313 NGF G>A	1	115829313	115829313	G	A	NGF	c.104C>T	NM_002506.3	NP_002497.2:p.(Ala35Val)	NC_000001.10:g.115829313G>A	(Likely) benign	2 labs	2bb89dfd45
19:13387904 CACNA1A A>G	19	13387904	13387904	A	G	CACNA1A	c.3873T>C	NM_023035.3	NP_075461.2:p.(Phe1291=)	NC_000019.9:g.13387904A>G	(Likely) benign	3 labs	38dc804d64
9:80022434 VPS13A A>C	9	80022434	80022434	A	C	VPS13A	c.9400-15A>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.80022434A>C	(Likely) benign	2 labs	38dc9bdbe7
2:179656901 TTN T>C	2	179656901	179656901	T	C	TTN	c.1560A>G	NM_001267550.2	NP_001254479.2:p.(Thr520=)	NC_000002.11:g.179656901T>C	(Likely) benign	2 labs	38de846b26
6:39893421 MOCS1 C>T	6	39893421	39893421	C	T	MOCS1	c.418+1G>A	NM_005943.6	NP_005934.2:p.?	NC_000006.11:g.39893421C>T	(Likely) pathogenic	4 labs	38e381798e
2:179451383 TTN C>A	2	179451383	179451383	C	A	TTN	c.64245G>T	NM_001267550.2	NP_001254479.2:p.(Trp21415Cys)	NC_000002.11:g.179451383C>A	VUS	2 labs	38e60fcb5a
7:117171045 CFTR T>A	7	117171045	117171045	T	A	CFTR	c.366T>A	NM_000492.4	NP_000483.3:p.(Tyr122Ter)	NC_000007.13:g.117171045T>A	(Likely) pathogenic	2 labs	2bd731b19e
3:24184995 THRB G>A	3	24184995	24184995	G	A	THRB	c.735C>T	NM_001252634.2	NP_001239563.1:p.(Phe245=)	NC_000003.11:g.24184995G>A	(Likely) benign	2 labs	38f73ad077
14:94844947 SERPINA1 C>T	14	94844947	94844947	C	T	SERPINA1	c.1096G>A	NM_000295.5	NP_000286.3:p.(Glu366Lys)	NC_000014.8:g.94844947C>T	(Likely) pathogenic	6 labs	38f8933f8f
14:23892950 MYH7 C>T	14	23892950	23892950	C	T	MYH7	c.2923-18G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23892950C>T	(Likely) benign	5 labs	38facd0209
X:31196817 DMD G>A	X	31196817	31196817	G	A	DMD	c.10192C>T	NM_004006.3	NP_003997.2:p.(Gln3398Ter)	NC_000023.10:g.31196817G>A	(Likely) pathogenic	2 labs	3903c4dcce
7:128481334 FLNC G>A	7	128481334	128481334	G	A	FLNC	c.1924G>A	NM_001458.5	NP_001449.3:p.(Val642Ile)	NC_000007.13:g.128481334G>A	VUS	3 labs	39055a1eb2
2:131356495 CFC1 T>G	2	131356495	131356495	T	G	CFC1	c.61A>C	NM_032545.4	NP_115934.1:p.(Asn21His)	NC_000002.11:g.131356495T>G	(Likely) benign	2 labs	2bf2179e04
X:153197564 NAA10 G>A	X	153197564	153197564	G	A	NAA10	c.346C>T	NM_003491.4	NP_003482.1:p.(Arg116Trp)	NC_000023.10:g.153197564G>A	(Likely) pathogenic	3 labs	390e300260
11:108098500 ATM C>T	11	108098500	108098500	C	T	ATM	c.73-3C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098500C>T	(Likely) benign	2 labs	2c0abc96dc
19:11221457 LDLR G>C	19	11221457	11221457	G	C	LDLR	c.1060+10G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221457G>C	(Likely) benign	3 labs	392d10c7a7
5:37120408 CPLANE1 G>A	5	37120408	37120408	G	A	CPLANE1	c.9058C>T	NM_023073.4	NP_075561.3:p.(Arg3020Ter)	NC_000005.9:g.37120408G>A	(Likely) pathogenic	2 labs	392f4c97f8
17:10543463 MYH3 T>C	17	10543463	10543463	T	C	MYH3	c.2532A>G	NM_002470.4	NP_002461.2:p.(Ala844=)	NC_000017.10:g.10543463T>C	(Likely) benign	3 labs	2c40a8a757
1:3342158 PRDM16 G>A	1	3342158	3342158	G	A	PRDM16	c.2953G>A	NM_022114.4	NP_071397.3:p.(Asp985Asn)	NC_000001.10:g.3342158G>A	VUS	2 labs	3943b0e5ec
7:142460865 PRSS1 T>C	7	142460865	142460865	T	C	PRSS1	c.738T>C	NM_002769.5	NP_002760.1:p.(Asn246=)	NC_000007.13:g.142460865T>C	(Likely) benign	2 labs	2c684b6975
13:32912678 BRCA2 CA>C	13	32912678	32912680	CA	C	BRCA2	c.4188del	NM_000059.4	NP_000050.3:p.(Glu1397LysfsTer13)	NC_000013.10:g.32912680del	(Likely) pathogenic	2 labs	3983fe626f
2:166872146 SCN1A G>C	2	166872146	166872146	G	C	SCN1A	c.3521C>G	NM_001165963.4	NP_001159435.1:p.(Thr1174Ser)	NC_000002.11:g.166872146G>C	(Likely) benign	5 labs	3997443fcd
6:10404932 TFAP2A G>A	6	10404932	10404932	G	A	TFAP2A	c.555C>T	NM_001032280.3	NP_001027451.1:p.(Ser185=)	NC_000006.11:g.10404932G>A	(Likely) benign	2 labs	39badf3902
1:154574820 ADAR T>C	1	154574820	154574820	T	C	ADAR	c.298A>G	NM_001111.5	NP_001102.3:p.(Arg100Gly)	NC_000001.10:g.154574820T>C	(Likely) benign	2 labs	39be0fe7a7
9:104189780 ALDOB G>T	9	104189780	104189780	G	T	ALDOB	c.524C>A	NM_000035.4	NP_000026.2:p.(Ala175Asp)	NC_000009.11:g.104189780G>T	(Likely) pathogenic	2 labs	2ccda58821
9:21971179 CDKN2A G>A	9	21971179	21971179	G	A	CDKN2A	c.179C>T	NM_000077.5	NP_000068.1:p.(Ala60Val)	NC_000009.11:g.21971179G>A	(Likely) pathogenic	2 labs	2ce7a0bbab
7:143043240 CLCN1 C>T	7	143043240	143043240	C	T	CLCN1	c.2180C>T	NM_000083.3	NP_000074.3:p.(Pro727Leu)	NC_000007.13:g.143043240C>T	(Likely) benign	2 labs	2cf6f99207
6:24520719 ALDH5A1 G>A	6	24520719	24520719	G	A	ALDH5A1	c.1000G>A	NM_170740.1	NP_733936.1:p.(Val334Met)	NC_000006.11:g.24520719G>A	(Likely) benign	2 labs	2cfda2da4a
9:34514466 DNAI1 G>A	9	34514466	34514466	G	A	DNAI1	c.1644G>A	NM_012144.4	NP_036276.1:p.(Trp548Ter)	NC_000009.11:g.34514466G>A	(Likely) pathogenic	2 labs	2d1fe09982
2:179516985 TTN G>A	2	179516985	179516985	G	A	TTN	c.39211+6C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516985G>A	(Likely) benign	5 labs	39f7410749
7:6017314 PMS2 C>T	7	6017314	6017314	C	T	PMS2	c.2350G>A	NM_000535.7	NP_000526.2:p.(Asp784Asn)	NC_000007.13:g.6017314C>T	(Likely) benign	2 labs	3a0f2c9f4d
15:35083508 ACTC1 T>TCA	15	35083508	35083554	T	TCA	ACTC1	c.809-14_809-13dup	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083553_35083554dup	(Likely) benign	5 labs	3a290164c0
2:179440374 TTN T>A	2	179440374	179440374	T	A	TTN	c.70485A>T	NM_001267550.2	NP_001254479.2:p.(Lys23495Asn)	NC_000002.11:g.179440374T>A	VUS	4 labs	3a37429d9a
1:227149203 COQ8A G>A	1	227149203	227149203	G	A	COQ8A	c.117G>A	NM_020247.5	NP_064632.2:p.(Ala39=)	NC_000001.10:g.227149203G>A	(Likely) benign	4 labs	3a533406e1
12:122255494 SETD1B G>A	12	122255494	122255494	G	A	SETD1B	c.3196G>A	NM_001353345.2	NP_001340274.1:p.(Asp1066Asn)	NC_000012.11:g.122255494G>A	(Likely) benign	2 labs	3a59381962
1:16374533 CLCNKB G>C	1	16374533	16374533	G	C	CLCNKB	c.492G>C	NM_000085.5	NP_000076.2:p.(Gly164=)	NC_000001.10:g.16374533G>C	(Likely) benign	2 labs	2d99abcf93
19:11230888 LDLR C>A	19	11230888	11230888	C	A	LDLR	c.1966C>A	NM_000527.5	NP_000518.1:p.(His656Asn)	NC_000019.9:g.11230888C>A	VUS	2 labs	2da6c792c3
X:44938563 KDM6A G>A	X	44938563	44938563	G	A	KDM6A	c.3111G>A	NM_021140.4	NP_066963.2:p.(Gln1037=)	NC_000023.10:g.44938563G>A	(Likely) benign	2 labs	2da7d1c20f
17:48269364 COL1A1 C>T	17	48269364	48269364	C	T	COL1A1	c.2005G>A	NM_000088.4	NP_000079.2:p.(Ala669Thr)	NC_000017.10:g.48269364C>T	VUS	2 labs	2dbb1c11bf
16:30749843 SRCAP C>T	16	30749843	30749843	C	T	SRCAP	c.8482C>T	NM_006662.3	NP_006653.2:p.(Arg2828Cys)	NC_000016.9:g.30749843C>T	(Likely) benign	2 labs	2dbb27feaf
7:117250609 CFTR G>A	7	117250609	117250609	G	A	CFTR	c.3025G>A	NM_000492.4	NP_000483.3:p.(Ala1009Thr)	NC_000007.13:g.117250609G>A	VUS	2 labs	2dc1ed3bf9
2:179397977 TTN G>A	2	179397977	179397977	G	A	TTN	c.103365C>T	NM_001267550.2	NP_001254479.2:p.(Arg34455=)	NC_000002.11:g.179397977G>A	(Likely) benign	3 labs	3a7dea8fa2
2:169814655 ABCB11 G>T	2	169814655	169814655	G	T	ABCB11	c.2179-17C>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169814655G>T	(Likely) benign	2 labs	2df17de552
15:51529112 CYP19A1 T>C	15	51529112	51529112	T	C	CYP19A1	c.240A>G	NM_031226.3	NP_112503.1:p.(Val80=)	NC_000015.9:g.51529112T>C	(Likely) benign	2 labs	2df72664fc
15:73615695 HCN4 C>T	15	73615695	73615695	C	T	HCN4	c.2739G>A	NM_005477.3	NP_005468.1:p.(Ala913=)	NC_000015.9:g.73615695C>T	(Likely) benign	6 labs	3ab15dc23c
22:20779947 SCARF2 G>C	22	20779947	20779947	G	C	SCARF2	c.2334=	NM_153334.7	NP_699165.3:p.(Glu778=)	NC_000022.10:g.20779947G>C	(Likely) benign	2 labs	3ab8509481
16:89346157 ANKRD11 C>CG	16	89346157	89346164	C	CG	ANKRD11	c.6792dup	NM_013275.6	NP_037407.4:p.(Ala2265ArgfsTer8)	NC_000016.9:g.89346164dup	(Likely) pathogenic	4 labs	3abb6192cc
19:36340009 NPHS1 G>A	19	36340009	36340009	G	A	NPHS1	c.881C>T	NM_004646.4	NP_004637.1:p.(Thr294Ile)	NC_000019.9:g.36340009G>A	(Likely) benign	2 labs	3abe080d0a
1:120459032 NOTCH2 G>A	1	120459032	120459032	G	A	NOTCH2	c.6313C>T	NM_024408.4	NP_077719.2:p.(Arg2105Trp)	NC_000001.10:g.120459032G>A	(Likely) benign	2 labs	2e234834a1
13:32953453 BRCA2 G>A	13	32953453	32953453	G	A	BRCA2	c.8755-1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953453G>A	(Likely) pathogenic	2 labs	2e274bdf9b
10:43609949 RET G>A	10	43609949	43609949	G	A	RET	c.1901G>A	NM_020975.6	NP_066124.1:p.(Cys634Tyr)	NC_000010.10:g.43609949G>A	(Likely) pathogenic	3 labs	3acab4de0e
7:83047777 SEMA3E G>A	7	83047777	83047777	G	A	SEMA3E	c.479C>T	NM_012431.3	NP_036563.1:p.(Ser160Leu)	NC_000007.13:g.83047777G>A	(Likely) benign	2 labs	3acbe698cb
20:61039927 GATA5 G>A	20	61039927	61039927	G	A	GATA5	c.1159C>T	NM_080473.5	NP_536721.1:p.(Arg387Cys)	NC_000020.10:g.61039927G>A	VUS	2 labs	2e51b373ae
17:39915057 JUP T>C	17	39915057	39915057	T	C	JUP	c.1563A>G	NM_002230.4	NP_002221.1:p.(Ala521=)	NC_000017.10:g.39915057T>C	(Likely) benign	5 labs	3af04a3b7a
13:32936722 BRCA2 A>G	13	32936722	32936722	A	G	BRCA2	c.7868A>G	NM_000059.4	NP_000050.3:p.(His2623Arg)	NC_000013.10:g.32936722A>G	(Likely) pathogenic	3 labs	3af491ac8b
9:139403510 NOTCH1 C>T	9	139403510	139403510	C	T	NOTCH1	c.2983G>A	NM_017617.5	NP_060087.3:p.(Gly995Ser)	NC_000009.11:g.139403510C>T	VUS	2 labs	2e6ae0d0c2
4:6303132 WFS1 G>A	4	6303132	6303132	G	A	WFS1	c.1610G>A	NM_006005.3	NP_005996.2:p.(Cys537Tyr)	NC_000004.11:g.6303132G>A	VUS	2 labs	2e6e5fc63d
3:38592406 SCN5A A>G	3	38592406	38592406	A	G	SCN5A	c.5457T>C	NM_198056.3	NP_932173.1:p.(Asp1819=)	NC_000003.11:g.38592406A>G	(Likely) benign	3 labs	3b098fe67a
1:114445279 AP4B1 G>A	1	114445279	114445279	G	A	AP4B1	c.319C>T	NM_006594.5	NP_006585.2:p.(Arg107Trp)	NC_000001.10:g.114445279G>A	VUS	3 labs	3b0b21f7e8
3:37070352 MLH1 C>T	3	37070352	37070352	C	T	MLH1	c.1487C>T	NM_000249.4	NP_000240.1:p.(Pro496Leu)	NC_000003.11:g.37070352C>T	VUS	2 labs	2e867ffd9a
13:52520508 ATP7B G>A	13	52520508	52520508	G	A	ATP7B	c.2972C>T	NM_000053.4	NP_000044.2:p.(Thr991Met)	NC_000013.10:g.52520508G>A	VUS	5 labs	3b1fa53150
16:30976438 SETD1A T>TC	16	30976438	30976444	T	TC	SETD1A	c.1381dup	NM_014712.3	NP_055527.1:p.(Arg461ProfsTer18)	NC_000016.9:g.30976444dup	(Likely) pathogenic	2 labs	3b23219012
21:46875564 COL18A1 T>C	21	46875564	46875564	T	C	COL18A1	c.120T>C	NM_030582.4	NP_085059.2:p.(His40=)	NC_000021.8:g.46875564T>C	(Likely) benign	2 labs	3b253ce2eb
X:153296728 MECP2 G>C	X	153296728	153296728	G	C	MECP2	c.551C>G	NM_004992.4	NP_004983.1:p.(Thr184Ser)	NC_000023.10:g.153296728G>C	VUS	2 labs	2ea5474a14
8:145738581 RECQL4 TGG>T	8	145738581	145738593	TGG	T	RECQL4	c.2463+18_2463+19del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738592_145738593del	(Likely) benign	2 labs	3b33b7736a
11:6655238 DCHS1 G>C	11	6655238	6655238	G	C	DCHS1	c.2000C>G	NM_003737.4	NP_003728.1:p.(Ser667Cys)	NC_000011.9:g.6655238G>C	VUS	2 labs	3b3a17b965
5:90449031 ADGRV1 T>C	5	90449031	90449031	T	C	ADGRV1	c.18625-7T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90449031T>C	(Likely) benign	2 labs	2ec2840028
2:48026605 MSH6 C>T	2	48026605	48026605	C	T	MSH6	c.1483C>T	NM_000179.3	NP_000170.1:p.(Arg495Ter)	NC_000002.11:g.48026605C>T	(Likely) pathogenic	2 labs	2ed0e304e7
2:26686872 OTOF G>A	2	26686872	26686872	G	A	OTOF	c.5063C>T	NM_194248.3	NP_919224.1:p.(Thr1688Met)	NC_000002.11:g.26686872G>A	VUS	2 labs	3b4ade9289
7:47867069 PKD1L1 G>A	7	47867069	47867069	G	A	PKD1L1	c.6736-3C>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47867069G>A	(Likely) benign	2 labs	2f06eb5230
2:170115588 LRP2 T>C	2	170115588	170115588	T	C	LRP2	c.2460A>G	NM_004525.3	NP_004516.2:p.(Thr820=)	NC_000002.11:g.170115588T>C	(Likely) benign	2 labs	2f0e30d2ef
16:3304567 MEFV C>G	16	3304567	3304567	C	G	MEFV	c.501G>C	NM_000243.2	NP_000234.1:p.(Glu167Asp)	NC_000016.9:g.3304567C>G	(Likely) pathogenic	3 labs	3b65e14a1e
3:129696041 TRH A>G	3	129696041	129696041	A	G	TRH	c.711A>G	NM_007117.5	NP_009048.1:p.(Arg237=)	NC_000003.11:g.129696041A>G	(Likely) benign	2 labs	3b68b0a9a9
17:17700774 RAI1 G>T	17	17700774	17700774	G	T	RAI1	c.4512G>T	NM_030665.4	NP_109590.3:p.(Leu1504=)	NC_000017.10:g.17700774G>T	(Likely) benign	3 labs	3b7048fa78
4:5642241 EVC2 C>CCT	4	5642241	5642246	C	CCT	EVC2	c.1468_1469dup	NM_147127.5	NP_667338.3:p.(Ser491GlyfsTer4)	NC_000004.11:g.5642245_5642246dup	(Likely) pathogenic	2 labs	3b8d106252
2:182521578 CERKL G>A	2	182521578	182521578	G	A	CERKL	c.156C>T	NM_001030311.3	NP_001025482.1:p.(Phe52=)	NC_000002.11:g.182521578G>A	(Likely) benign	2 labs	3b8fe3115e
2:179610611 TTN C>A	2	179610611	179610611	C	A	TTN	c.16516G>T	NM_133379.5	NP_596870.2:p.(Glu5506Ter)	NC_000002.11:g.179610611C>A	VUS	2 labs	2f48fbfd15
X:31196786 DMD G>A	X	31196786	31196786	G	A	DMD	c.10223C>T	NM_004006.3	NP_003997.2:p.(Thr3408Ile)	NC_000023.10:g.31196786G>A	VUS	3 labs	3b9176711b
2:179485561 TTN T>A	2	179485561	179485561	T	A	TTN	c.45776A>T	NM_001267550.2	NP_001254479.2:p.(Asp15259Val)	NC_000002.11:g.179485561T>A	VUS	2 labs	3b91c7a005
19:11231171 LDLR G>C	19	11231171	11231171	G	C	LDLR	c.2113G>C	NM_000527.5	NP_000518.1:p.(Ala705Pro)	NC_000019.9:g.11231171G>C	(Likely) pathogenic	2 labs	3b96123641
13:32906567 BRCA2 A>T	13	32906567	32906567	A	T	BRCA2	c.952A>T	NM_000059.4	NP_000050.3:p.(Lys318Ter)	NC_000013.10:g.32906567A>T	(Likely) pathogenic	2 labs	3b9b65009d
6:56484758 DST C>T	6	56484758	56484758	C	T	DST	c.4074G>A	NM_001723.7	NP_001714.1:p.(Lys1358=)	NC_000006.11:g.56484758C>T	(Likely) benign	2 labs	3ba7551449
10:89725078 PTEN C>A	10	89725078	89725078	C	A	PTEN	c.1061C>A	NM_000314.8	NP_000305.3:p.(Pro354Gln)	NC_000010.10:g.89725078C>A	(Likely) benign	5 labs	3ba86e5272
2:179432468 TTN G>A	2	179432468	179432468	G	A	TTN	c.78391C>T	NM_001267550.2	NP_001254479.2:p.(Pro26131Ser)	NC_000002.11:g.179432468G>A	VUS	2 labs	2f60f1f4e9
13:52549031 ATP7B G>A	13	52549031	52549031	G	A	ATP7B	c.325C>T	NM_000053.4	NP_000044.2:p.(Leu109=)	NC_000013.10:g.52549031G>A	(Likely) benign	2 labs	3bac7fa0ba
11:47371599 MYBPC3 G>A	11	47371599	47371599	G	A	MYBPC3	c.471C>T	NM_000256.3	NP_000247.2:p.(Phe157=)	NC_000011.9:g.47371599G>A	(Likely) benign	4 labs	3bb5fccd45
15:73002101 BBS4 A>G	15	73002101	73002101	A	G	BBS4	c.137A>G	NM_033028.5	NP_149017.2:p.(Lys46Arg)	NC_000015.9:g.73002101A>G	(Likely) benign	3 labs	3bb6bec6c9
14:23862232 MYH6 C>T	14	23862232	23862232	C	T	MYH6	c.3140G>A	NM_002471.4	NP_002462.2:p.(Arg1047His)	NC_000014.8:g.23862232C>T	VUS	3 labs	2faa4cdbed
9:135786013 TSC1 G>A	9	135786013	135786013	G	A	TSC1	c.1208C>T	NM_000368.5	NP_000359.1:p.(Ser403Leu)	NC_000009.11:g.135786013G>A	(Likely) benign	4 labs	3bce0de122
3:38524742 ACVR2B C>T	3	38524742	38524742	C	T	ACVR2B	c.1458C>T	NM_001106.4	NP_001097.2:p.(Asn486=)	NC_000003.11:g.38524742C>T	(Likely) benign	4 labs	3bd1c6377a
X:37553805 XK C>T	X	37553805	37553805	C	T	XK	c.508+4C>T	NM_021083.4	NP_066569.1:p.?	NC_000023.10:g.37553805C>T	(Likely) benign	2 labs	3bd6476b62
9:131379967 SPTAN1 C>T	9	131379967	131379967	C	T	SPTAN1	c.5406C>T	NM_001130438.3	NP_001123910.1:p.(Thr1802=)	NC_000009.11:g.131379967C>T	(Likely) benign	2 labs	2fb7137550
16:84203730 DNAAF1 G>C	16	84203730	84203730	G	C	DNAAF1	c.1296G>C	NM_178452.6	NP_848547.4:p.(Glu432Asp)	NC_000016.9:g.84203730G>C	(Likely) benign	3 labs	3bda9d747b
1:41285131 KCNQ4 T>A	1	41285131	41285131	T	A	KCNQ4	c.821T>A	NM_004700.4	NP_004691.2:p.(Leu274His)	NC_000001.10:g.41285131T>A	(Likely) pathogenic	2 labs	2fc9f21da2
4:100542329 MTTP G>A	4	100542329	100542329	G	A	MTTP	c.2454G>A	NM_000253.4	NP_000244.2:p.(Gln818=)	NC_000004.11:g.100542329G>A	(Likely) benign	2 labs	3c057fb8a8
19:38935280 RYR1 A>G	19	38935280	38935280	A	G	RYR1	c.594A>G	NM_000540.3	NP_000531.2:p.(Leu198=)	NC_000019.9:g.38935280A>G	(Likely) benign	3 labs	3c0f3e9047
19:50832025 KCNC3 C>G	19	50832025	50832025	C	G	KCNC3	c.315G>C	NM_004977.3	NP_004968.2:p.(Thr105=)	NC_000019.9:g.50832025C>G	(Likely) benign	3 labs	3c0f59eac7
X:28807442 IL1RAPL1 G>A	X	28807442	28807442	G	A	IL1RAPL1	c.-19G>A	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.28807442G>A	(Likely) benign	2 labs	30346f0c12
13:111156499 COL4A2 C>T	13	111156499	111156499	C	T	COL4A2	c.4290C>T	NM_001846.4	NP_001837.2:p.(Phe1430=)	NC_000013.10:g.111156499C>T	(Likely) benign	3 labs	3c2a493404
19:11224074 LDLR T>C	19	11224074	11224074	T	C	LDLR	c.1307T>C	NM_000527.5	NP_000518.1:p.(Val436Ala)	NC_000019.9:g.11224074T>C	(Likely) pathogenic	2 labs	3c2bb8a6ad
15:72642905 HEXA C>T	15	72642905	72642905	C	T	HEXA	c.759G>A	NM_000520.6	NP_000511.2:p.(Val253=)	NC_000015.9:g.72642905C>T	(Likely) benign	2 labs	3c42d1d075
2:215593721 BARD1 C>T	2	215593721	215593721	C	T	BARD1	c.2013G>A	NM_000465.4	NP_000456.2:p.(Leu671=)	NC_000002.11:g.215593721C>T	(Likely) benign	2 labs	3c5f3dc913
X:153589744 FLNA AG>A	X	153589744	153589746	AG	A	FLNA	c.3138del	NM_001456.4	NP_001447.2:p.(Tyr1047MetfsTer24)	NC_000023.10:g.153589746del	(Likely) pathogenic	2 labs	3c5fdeee1c
9:79890579 VPS13A C>T	9	79890579	79890579	C	T	VPS13A	c.2667+11C>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79890579C>T	(Likely) benign	2 labs	3c61f53e26
1:3328430 PRDM16 C>T	1	3328430	3328430	C	T	PRDM16	c.1669C>T	NM_022114.4	NP_071397.3:p.(Pro557Ser)	NC_000001.10:g.3328430C>T	VUS	2 labs	3c66c2fc01
7:6048649 PMS2 A>T	7	6048649	6048649	A	T	PMS2	c.2T>A	NM_000535.7	NP_000526.2:p.(Met1?)	NC_000007.13:g.6048649A>T	(Likely) pathogenic	2 labs	30a879b246
12:22079013 ABCC9 C>T	12	22079013	22079013	C	T	ABCC9	c.285-16G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22079013C>T	(Likely) benign	3 labs	3c8662cacc
5:10250430 CCT5 G>A	5	10250430	10250430	G	A	CCT5	c.-23G>A	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10250430G>A	(Likely) benign	2 labs	3c90faeed6
15:85383145 ALPK3 C>G	15	85383145	85383145	C	G	ALPK3	c.635C>G	NM_020778.5	NP_065829.4:p.(Thr212Ser)	NC_000015.9:g.85383145C>G	(Likely) benign	3 labs	3c926dd89d
14:23895255 MYH7 G>A	14	23895255	23895255	G	A	MYH7	c.2080C>T	NM_000257.4	NP_000248.2:p.(Arg694Cys)	NC_000014.8:g.23895255G>A	(Likely) pathogenic	4 labs	3c96e438d4
14:23890230 MYH7 G>A	14	23890230	23890230	G	A	MYH7	c.3273C>T	NM_000257.4	NP_000248.2:p.(Asn1091=)	NC_000014.8:g.23890230G>A	(Likely) benign	3 labs	3c99538f90
19:54697079 TSEN34 C>T	19	54697079	54697079	C	T	TSEN34	c.795=	NM_024075.5	NP_076980.2:p.(Pro265=)	NC_000019.9:g.54697079C>T	(Likely) benign	2 labs	3ca7b376c0
11:17450109 ABCC8 C>T	11	17450109	17450109	C	T	ABCC8	c.1923+3G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17450109C>T	(Likely) benign	2 labs	3cc4015713
12:91449990 KERA C>T	12	91449990	91449990	C	T	KERA	c.69G>A	NM_007035.4	NP_008966.1:p.(Val23=)	NC_000012.11:g.91449990C>T	(Likely) benign	2 labs	3ccc048649
15:73002035 BBS4 G>A	15	73002035	73002035	G	A	BBS4	c.77-6G>A	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73002035G>A	(Likely) benign	2 labs	3cd1d35b04
14:23852502 MYH6 G>A	14	23852502	23852502	G	A	MYH6	c.5593C>T	NM_002471.4	NP_002462.2:p.(Arg1865Trp)	NC_000014.8:g.23852502G>A	VUS	2 labs	3cd372ad05
20:62297418 RTEL1 C>A	20	62297418	62297418	C	A	RTEL1	c.672C>A	NM_032957.5	NP_116575.3:p.(Ser224Arg)	NC_000020.10:g.62297418C>A	VUS	2 labs	31341cc7c8
7:151478406 PRKAG2 C>T	7	151478406	151478406	C	T	PRKAG2	c.298G>A	NM_016203.4	NP_057287.2:p.(Gly100Ser)	NC_000007.13:g.151478406C>T	(Likely) benign	4 labs	3cd544990b
7:30668230 GARS1 T>C	7	30668230	30668230	T	C	GARS1	c.1754T>C	NM_002047.4	NP_002038.2:p.(Met585Thr)	NC_000007.13:g.30668230T>C	VUS	2 labs	3ce3d563e6
16:3707206 DNASE1 G>C	16	3707206	3707206	G	C	DNASE1	c.568G>C	NM_005223.4	NP_005214.2:p.(Asp190His)	NC_000016.9:g.3707206G>C	VUS	2 labs	3cee2173f2
12:103234251 PAH G>A	12	103234251	103234251	G	A	PAH	c.1242C>T	NM_000277.3	NP_000268.1:p.(Tyr414=)	NC_000012.11:g.103234251G>A	(Likely) benign	3 labs	3cee7fe304
1:22203106 HSPG2 C>T	1	22203106	22203106	C	T	HSPG2	c.2725G>A	NM_005529.7	NP_005520.4:p.(Gly909Ser)	NC_000001.10:g.22203106C>T	VUS	2 labs	3173b5f36a
2:163134715 IFIH1 C>CT	2	163134715	163134723	C	CT	IFIH1	c.1764dup	NM_022168.4	NP_071451.2:p.(Ala589SerfsTer21)	NC_000002.11:g.163134723dup	VUS	2 labs	3cfec1ed1c
11:108196879 ATM C>CA	11	108196879	108196885	C	CA	ATM	c.6908dup	NM_000051.4	NP_000042.3:p.(Glu2304GlyfsTer69)	NC_000011.9:g.108196885dup	(Likely) pathogenic	4 labs	3d085c09d0
7:150648737 KCNH2 G>A	7	150648737	150648737	G	A	KCNH2	c.1744C>T	NM_000238.4	NP_000229.1:p.(Arg582Cys)	NC_000007.13:g.150648737G>A	(Likely) pathogenic	3 labs	3d16052148
17:48678510 CACNA1G G>A	17	48678510	48678510	G	A	CACNA1G	c.3890G>A	NM_018896.5	NP_061496.2:p.(Arg1297His)	NC_000017.10:g.48678510G>A	VUS	2 labs	3d2825b7d8
19:11226889 LDLR G>A	19	11226889	11226889	G	A	LDLR	c.1705+1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226889G>A	(Likely) pathogenic	2 labs	3d2cd2212b
1:22200454 HSPG2 G>T	1	22200454	22200454	G	T	HSPG2	c.3710C>A	NM_001291860.2	NP_001278789.1:p.(Ala1237Glu)	NC_000001.10:g.22200454G>T	(Likely) benign	3 labs	3d33551a10
16:88505748 ZNF469 G>A	16	88505748	88505748	G	A	ZNF469	c.*8G>A	NM_001367624.2	NP_001354553.1:p.?	NC_000016.9:g.88505748G>A	(Likely) benign	2 labs	3194c7f659
18:29118937 DSG2 G>C	18	29118937	29118937	G	C	DSG2	c.1875G>C	NM_001943.5	NP_001934.2:p.(Leu625=)	NC_000018.9:g.29118937G>C	(Likely) benign	4 labs	3d3aee3abd
5:13841077 DNAH5 G>A	5	13841077	13841077	G	A	DNAH5	c.5647C>T	NM_001369.3	NP_001360.1:p.(Arg1883Ter)	NC_000005.9:g.13841077G>A	(Likely) pathogenic	2 labs	31c3b9866f
19:33355055 SLC7A9 A>G	19	33355055	33355055	A	G	SLC7A9	c.425T>C	NM_001243036.2	NP_001229965.1:p.(Val142Ala)	NC_000019.9:g.33355055A>G	(Likely) benign	2 labs	3d570d97f5
8:118849430 EXT1 G>A	8	118849430	118849430	G	A	EXT1	c.973C>T	NM_000127.3	NP_000118.2:p.(Arg325Trp)	NC_000008.10:g.118849430G>A	VUS	2 labs	31e9180bcf
5:38925342 OSMR C>T	5	38925342	38925342	C	T	OSMR	c.2081C>T	NM_003999.3	NP_003990.1:p.(Pro694Leu)	NC_000005.9:g.38925342C>T	(Likely) pathogenic	2 labs	31ff8ffb52
2:179481203 TTN C>A	2	179481203	179481203	C	A	TTN	c.48312+3G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481203C>A	(Likely) benign	2 labs	3d5e0ce7fb
19:11227558 LDLR T>C	19	11227558	11227558	T	C	LDLR	c.1729T>C	NM_000527.5	NP_000518.1:p.(Trp577Arg)	NC_000019.9:g.11227558T>C	(Likely) pathogenic	2 labs	3d75cac295
8:27634402 ESCO2 C>T	8	27634402	27634402	C	T	ESCO2	c.577C>T	NM_001017420.3	NP_001017420.1:p.(Arg193Trp)	NC_000008.10:g.27634402C>T	VUS	2 labs	320509bf65
2:179412645 TTN G>A	2	179412645	179412645	G	A	TTN	c.93708C>T	NM_001267550.2	NP_001254479.2:p.(Asp31236=)	NC_000002.11:g.179412645G>A	(Likely) benign	3 labs	3d7e1b3857
11:32456784 WT1 C>G	11	32456784	32456784	C	G	WT1	c.123G>C	NM_024426.6	NP_077744.4:p.(Pro41=)	NC_000011.9:g.32456784C>G	(Likely) benign	4 labs	3d7fd15d3d
10:112572173 RBM20 G>A	10	112572173	112572173	G	A	RBM20	c.2018G>A	NM_001134363.3	NP_001127835.2:p.(Arg673Gln)	NC_000010.10:g.112572173G>A	(Likely) benign	4 labs	3d8a4c7909
17:41243800 BRCA1 C>A	17	41243800	41243800	C	A	BRCA1	c.3748G>T	NM_007294.4	NP_009225.1:p.(Glu1250Ter)	NC_000017.10:g.41243800C>A	(Likely) pathogenic	7 labs	3d8d483743
3:46937272 PTH1R G>C	3	46937272	46937272	G	C	PTH1R	c.226G>C	NM_000316.3	NP_000307.1:p.(Gly76Arg)	NC_000003.11:g.46937272G>C	VUS	2 labs	3da6241a1c
X:68058527 EFNB1 C>T	X	68058527	68058527	C	T	EFNB1	c.196C>T	NM_004429.5	NP_004420.1:p.(Arg66Ter)	NC_000023.10:g.68058527C>T	(Likely) pathogenic	2 labs	32631fc2df
1:55509594 PCSK9 C>T	1	55509594	55509594	C	T	PCSK9	c.286C>T	NM_174936.4	NP_777596.2:p.(Arg96Cys)	NC_000001.10:g.55509594C>T	VUS	3 labs	3db9191db0
5:13829608 DNAH5 G>A	5	13829608	13829608	G	A	DNAH5	c.6444+11C>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13829608G>A	(Likely) benign	2 labs	3dc246ad82
17:56772486 RAD51C G>A	17	56772486	56772486	G	A	RAD51C	c.340G>A	NM_058216.3	NP_478123.1:p.(Gly114Arg)	NC_000017.10:g.56772486G>A	VUS	2 labs	3dcc745523
22:29090015 CHEK2 C>T	22	29090015	29090015	C	T	CHEK2	c.1461+5G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29090015C>T	(Likely) pathogenic	2 labs	329b373b12
1:152281907 FLG A>G	1	152281907	152281907	A	G	FLG	c.5455T>C	NM_002016.2	NP_002007.1:p.(Ser1819Pro)	NC_000001.10:g.152281907A>G	(Likely) benign	2 labs	32c438be8e
2:179414303 TTN G>A	2	179414303	179414303	G	A	TTN	c.92146C>T	NM_001267550.2	NP_001254479.2:p.(Gln30716Ter)	NC_000002.11:g.179414303G>A	(Likely) pathogenic	2 labs	3dfcb8d30e
19:48946811 GRIN2D C>T	19	48946811	48946811	C	T	GRIN2D	c.3628C>T	NM_000836.4	NP_000827.2:p.(Pro1210Ser)	NC_000019.9:g.48946811C>T	(Likely) benign	3 labs	3e0347ec6d
15:85401259 ALPK3 C>T	15	85401259	85401259	C	T	ALPK3	c.3290C>T	NM_020778.5	NP_065829.4:p.(Pro1097Leu)	NC_000015.9:g.85401259C>T	(Likely) benign	4 labs	3e04f4f742
6:118880110 PLN G>A	6	118880110	118880110	G	A	PLN	c.26G>A	NM_002667.5	NP_002658.1:p.(Arg9His)	NC_000006.11:g.118880110G>A	(Likely) pathogenic	2 labs	3e0b2fc691
1:53676448 CPT2 G>A	1	53676448	53676448	G	A	CPT2	c.1102G>A	NM_000098.3	NP_000089.1:p.(Val368Ile)	NC_000001.10:g.53676448G>A	(Likely) benign	2 labs	32fc0f7397
4:6303974 WFS1 C>T	4	6303974	6303974	C	T	WFS1	c.2452C>T	NM_006005.3	NP_005996.2:p.(Arg818Cys)	NC_000004.11:g.6303974C>T	(Likely) benign	3 labs	3e0ff9867d
3:48629340 COL7A1 G>A	3	48629340	48629340	G	A	COL7A1	c.1348C>T	NM_000094.4	NP_000085.1:p.(Arg450Cys)	NC_000003.11:g.48629340G>A	VUS	2 labs	3e249567f4
1:241671993 FH A>T	1	241671993	241671993	A	T	FH	c.648T>A	NM_000143.4	NP_000134.2:p.(Asp216Glu)	NC_000001.10:g.241671993A>T	(Likely) benign	3 labs	3329744fff
15:63349176 TPM1 C>T	15	63349176	63349176	C	T	TPM1	c.241-8C>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63349176C>T	(Likely) benign	2 labs	3e2c88d795
5:149360877 SLC26A2 T>C	5	149360877	149360877	T	C	SLC26A2	c.1721T>C	NM_000112.4	NP_000103.2:p.(Ile574Thr)	NC_000005.9:g.149360877T>C	(Likely) benign	4 labs	3e3584ee71
12:33031417 PKP2 G>A	12	33031417	33031417	G	A	PKP2	c.397C>T	NM_004572.4	NP_004563.2:p.(Gln133Ter)	NC_000012.11:g.33031417G>A	(Likely) pathogenic	5 labs	3e3872ec68
22:21348225 LZTR1 G>A	22	21348225	21348225	G	A	LZTR1	c.1366G>A	NM_006767.4	NP_006758.2:p.(Val456Met)	NC_000022.10:g.21348225G>A	VUS	2 labs	33396ccf04
10:26357747 MYO3A C>T	10	26357747	26357747	C	T	MYO3A	c.1104C>T	NM_017433.5	NP_059129.3:p.(Tyr368=)	NC_000010.10:g.26357747C>T	(Likely) benign	2 labs	334aa93e5a
11:75282882 SERPINH1 G>A	11	75282882	75282882	G	A	SERPINH1	c.1011G>A	NM_001207014.3	NP_001193943.1:p.(Leu337=)	NC_000011.9:g.75282882G>A	(Likely) benign	2 labs	3e52ddf2b1
12:15669737 PTPRO T>C	12	15669737	15669737	T	C	PTPRO	c.1626T>C	NM_030667.3	NP_109592.1:p.(Gly542=)	NC_000012.11:g.15669737T>C	(Likely) benign	2 labs	335c8ec4d4
3:57832925 SLMAP G>A	3	57832925	57832925	G	A	SLMAP	c.421G>A	NM_007159.5	NP_009090.2:p.(Val141Ile)	NC_000003.11:g.57832925G>A	VUS	2 labs	337badc70d
10:112543134 RBM20 T>C	10	112543134	112543134	T	C	RBM20	c.1286T>C	NM_001134363.3	NP_001127835.2:p.(Leu429Pro)	NC_000010.10:g.112543134T>C	(Likely) benign	6 labs	3e5e776aa5
15:28538063 HERC2 A>G	15	28538063	28538063	A	G	HERC2	c.293T>C	NM_004667.6	NP_004658.3:p.(Leu98Pro)	NC_000015.9:g.28538063A>G	VUS	4 labs	3e6bfda454
19:49485548 GYS1 G>A	19	49485548	49485548	G	A	GYS1	c.1026C>T	NM_002103.5	NP_002094.2:p.(Phe342=)	NC_000019.9:g.49485548G>A	(Likely) benign	2 labs	338a9798da
12:112926884 PTPN11 T>A	12	112926884	112926884	T	A	PTPN11	c.1504T>A	NM_002834.5	NP_002825.3:p.(Ser502Thr)	NC_000012.11:g.112926884T>A	(Likely) pathogenic	2 labs	339bb7eca8
2:179417013 TTN A>T	2	179417013	179417013	A	T	TTN	c.85691T>A	NM_001256850.1	NP_001243779.1:p.(Ile28564Asn)	NC_000002.11:g.179417013A>T	VUS	2 labs	3e6e5bd9d2
12:9004512 A2ML1 G>A	12	9004512	9004512	G	A	A2ML1	c.2367G>A	NM_144670.6	NP_653271.3:p.(Pro789=)	NC_000012.11:g.9004512G>A	(Likely) benign	3 labs	3e7fdf270e
8:145000021 PLEC C>T	8	145000021	145000021	C	T	PLEC	c.4487G>A	NM_201380.4	NP_958782.1:p.(Arg1496His)	NC_000008.10:g.145000021C>T	(Likely) benign	2 labs	33be0f6ee1
1:3347439 PRDM16 G>A	1	3347439	3347439	G	A	PRDM16	c.3288G>A	NM_022114.4	NP_071397.3:p.(Ala1096=)	NC_000001.10:g.3347439G>A	(Likely) benign	2 labs	3e8d336fa1
2:215645382 BARD1 G>C	2	215645382	215645382	G	C	BARD1	c.1216C>G	NM_000465.4	NP_000456.2:p.(Arg406Gly)	NC_000002.11:g.215645382G>C	VUS	3 labs	33da9714da
7:6017218 PMS2 C>A	7	6017218	6017218	C	A	PMS2	c.2445+1G>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6017218C>A	(Likely) pathogenic	2 labs	33dd1bce9b
2:228102752 COL4A3 C>A	2	228102752	228102752	C	A	COL4A3	c.144+12C>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228102752C>A	(Likely) benign	2 labs	33edbe51b3
6:35479574 TULP1 G>C	6	35479574	35479574	G	C	TULP1	c.200C>G	NM_003322.6	NP_003313.3:p.(Thr67Arg)	NC_000006.11:g.35479574G>C	(Likely) benign	2 labs	33fd3fcbe1
2:179447208 TTN A>T	2	179447208	179447208	A	T	TTN	c.65975T>A	NM_001267550.2	NP_001254479.2:p.(Ile21992Asn)	NC_000002.11:g.179447208A>T	VUS	2 labs	340f71a4aa
2:179643601 TTN C>G	2	179643601	179643601	C	G	TTN	c.4208G>C	NM_001267550.2	NP_001254479.2:p.(Arg1403Thr)	NC_000002.11:g.179643601C>G	VUS	2 labs	3eb5bc044f
17:71196139 COG1 C>T	17	71196139	71196139	C	T	COG1	c.1049C>T	NM_018714.3	NP_061184.1:p.(Thr350Met)	NC_000017.10:g.71196139C>T	(Likely) benign	2 labs	344c9aef03
3:38591920 SCN5A A>G	3	38591920	38591920	A	G	SCN5A	c.5943T>C	NM_001099404.2	NP_001092874.1:p.(Thr1981=)	NC_000003.11:g.38591920A>G	(Likely) benign	2 labs	344ef9f166
4:151186906 LRBA G>A	4	151186906	151186906	G	A	LRBA	c.8560C>T	NM_006726.4	NP_006717.2:p.(Arg2854Trp)	NC_000004.11:g.151186906G>A	VUS	2 labs	346eaf5344
3:164732996 SI G>A	3	164732996	164732996	G	A	SI	c.3914C>T	NM_001041.4	NP_001032.2:p.(Thr1305Ile)	NC_000003.11:g.164732996G>A	VUS	2 labs	347866aebb
X:591926 SHOX T>G	X	591926	591926	T	G	SHOX	c.277+17T>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591926T>G	(Likely) benign	2 labs	34818f34db
19:5893155 NDUFA11 C>A	19	5893155	5893155	C	A	NDUFA11	c.460G>T	NM_001193375.3	NP_001180304.1:p.(Glu154Ter)	NC_000019.9:g.5893155C>A	VUS	2 labs	3ee04775b5
1:201047111 CACNA1S A>G	1	201047111	201047111	A	G	CACNA1S	c.1515T>C	NM_000069.3	NP_000060.2:p.(Cys505=)	NC_000001.10:g.201047111A>G	(Likely) benign	2 labs	3492452ad0
15:44941074 SPG11 T>A	15	44941074	44941074	T	A	SPG11	c.1592A>T	NM_025137.4	NP_079413.3:p.(His531Leu)	NC_000015.9:g.44941074T>A	VUS	2 labs	34aadf4432
14:77493789 IRF2BPL TGCTGTTGCTGC>T	14	77493789	77493800	TGCTGTTGCTGC	T	IRF2BPL	c.336_346del	NM_024496.4	NP_078772.1:p.(Gln113AlafsTer16)	NC_000014.8:g.77493790_77493800del	(Likely) benign	2 labs	3ef1bb0dd2
9:135187128 SETX G>A	9	135187128	135187128	G	A	SETX	c.5374+16C>T	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135187128G>A	(Likely) benign	5 labs	3ef42392b3
4:114294308 ANK2 T>C	4	114294308	114294308	T	C	ANK2	c.11673T>C	NM_001148.6	NP_001139.3:p.(His3891=)	NC_000004.11:g.114294308T>C	(Likely) benign	2 labs	3f06d0ad17
17:33445581 RAD51D C>T	17	33445581	33445581	C	T	RAD51D	c.202G>A	NM_002878.4	NP_002869.3:p.(Gly68Ser)	NC_000017.10:g.33445581C>T	VUS	6 labs	3f0c8c2062
6:15512511 JARID2 G>A	6	15512511	15512511	G	A	JARID2	c.3025G>A	NM_004973.4	NP_004964.2:p.(Val1009Ile)	NC_000006.11:g.15512511G>A	(Likely) benign	2 labs	3508713768
8:144809804 SACK1H G>A	8	144809804	144809804	G	A	SACK1H	c.1827C>T	NM_198488.5	NP_940890.4:p.(Tyr609=)	NC_000008.10:g.144809804G>A	(Likely) benign	2 labs	3f29f36b8b
3:48626376 COL7A1 G>A	3	48626376	48626376	G	A	COL7A1	c.2367C>T	NM_000094.4	NP_000085.1:p.(Ser789=)	NC_000003.11:g.48626376G>A	(Likely) benign	2 labs	3f3c0822fe
12:2721131 CACNA1C C>A	12	2721131	2721131	C	A	CACNA1C	c.3840C>A	NM_199460.4	NP_955630.3:p.(Gly1280=)	NC_000012.11:g.2721131C>A	(Likely) benign	4 labs	3f3dc399be
11:108098418 ATM C>G	11	108098418	108098418	C	G	ATM	c.67C>G	NM_000051.4	NP_000042.3:p.(Arg23Gly)	NC_000011.9:g.108098418C>G	VUS	2 labs	35425df4d5
7:75614296 POR G>A	7	75614296	75614296	G	A	POR	c.1248+20G>A	NM_001382658.1	NP_001369587.1:p.?	NC_000007.13:g.75614296G>A	(Likely) benign	2 labs	35459de5f6
16:57996960 CNGB1 C>T	16	57996960	57996960	C	T	CNGB1	c.299G>A	NM_001297.5	NP_001288.3:p.(Arg100His)	NC_000016.9:g.57996960C>T	(Likely) benign	2 labs	3f4c538cef
1:24134721 HMGCL T>C	1	24134721	24134721	T	C	HMGCL	c.654A>G	NM_000191.3	NP_000182.2:p.(Leu218=)	NC_000001.10:g.24134721T>C	(Likely) benign	2 labs	355fdd6a9f
12:1017197 WNK1 C>T	12	1017197	1017197	C	T	WNK1	c.7608C>T	NM_001184985.2	NP_001171914.1:p.(Tyr2536=)	NC_000012.11:g.1017197C>T	(Likely) benign	3 labs	35643c646c
7:151478457 PRKAG2 G>A	7	151478457	151478457	G	A	PRKAG2	c.247C>T	NM_016203.4	NP_057287.2:p.(Pro83Ser)	NC_000007.13:g.151478457G>A	(Likely) benign	5 labs	3f54253506
2:105977776 FHL2 G>A	2	105977776	105977776	G	A	FHL2	c.804C>T	NM_201555.2	NP_963849.1:p.(Asp268=)	NC_000002.11:g.105977776G>A	(Likely) benign	2 labs	3f544e8dfa
1:40319721 TRIT1 CG>C	1	40319721	40319724	CG	C	TRIT1	c.334del	NM_017646.6	NP_060116.2:p.(Arg112GlufsTer36)	NC_000001.10:g.40319724del	(Likely) pathogenic	2 labs	3f5a0f4d76
17:78190883 SGSH G>C	17	78190883	78190883	G	C	SGSH	c.197C>G	NM_000199.5	NP_000190.1:p.(Ser66Trp)	NC_000017.10:g.78190883G>C	(Likely) pathogenic	3 labs	3f5f8daf97
5:147491370 SPINK5 C>T	5	147491370	147491370	C	T	SPINK5	c.1732C>T	NM_006846.4	NP_006837.2:p.(Arg578Ter)	NC_000005.9:g.147491370C>T	(Likely) pathogenic	2 labs	35c32fe629
4:980932 IDUA G>A	4	980932	980932	G	A	IDUA	c.60G>A	NM_000203.5	NP_000194.2:p.(Ala20=)	NC_000004.11:g.980932G>A	(Likely) benign	5 labs	3f703119bf
12:9013755 A2ML1 C>T	12	9013755	9013755	C	T	A2ML1	c.3364C>T	NM_144670.6	NP_653271.3:p.(Arg1122Trp)	NC_000012.11:g.9013755C>T	(Likely) benign	3 labs	3f79955366
1:156100548 LMNA G>A	1	156100548	156100548	G	A	LMNA	c.497G>A	NM_170707.4	NP_733821.1:p.(Arg166Gln)	NC_000001.10:g.156100548G>A	VUS	2 labs	35fbcdc2d5
22:51063820 ARSA G>A	22	51063820	51063820	G	A	ARSA	c.1283C>T	NM_000487.6	NP_000478.3:p.(Pro428Leu)	NC_000022.10:g.51063820G>A	(Likely) pathogenic	6 labs	3f963828c9
5:161302590 GABRA1 G>A	5	161302590	161302590	G	A	GABRA1	c.501G>A	NM_001127644.2	NP_001121116.1:p.(Pro167=)	NC_000005.9:g.161302590G>A	(Likely) benign	2 labs	3f965e930c
5:155771579 SGCD T>C	5	155771579	155771579	T	C	SGCD	c.84T>C	NM_000337.6	NP_000328.2:p.(Tyr28=)	NC_000005.9:g.155771579T>C	(Likely) benign	3 labs	3f97b2defe
1:25883695 LDLRAP1 C>T	1	25883695	25883695	C	T	LDLRAP1	c.396C>T	NM_015627.3	NP_056442.2:p.(Ile132=)	NC_000001.10:g.25883695C>T	(Likely) benign	2 labs	3f9e41a950
15:35083338 ACTC1 C>A	15	35083338	35083338	C	A	ACTC1	c.967G>T	NM_005159.5	NP_005150.1:p.(Ala323Ser)	NC_000015.9:g.35083338C>A	VUS	3 labs	3fa9468db6
17:33434093 RAD51D C>T	17	33434093	33434093	C	T	RAD51D	c.454G>A	NM_001142571.2	NP_001136043.1:p.(Val152Ile)	NC_000017.10:g.33434093C>T	(Likely) benign	2 labs	3fad732eda
12:111352113 MYL2 A>G	12	111352113	111352113	A	G	MYL2	c.170-19T>C	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111352113A>G	(Likely) benign	5 labs	3fc5a7ce98
22:19393356 HIRA T>C	22	19393356	19393356	T	C	HIRA	c.350A>G	NM_003325.4	NP_003316.3:p.(Asn117Ser)	NC_000022.10:g.19393356T>C	VUS	2 labs	3642cc1dc2
2:179395958 TTN T>C	2	179395958	179395958	T	C	TTN	c.105384A>G	NM_001267550.2	NP_001254479.2:p.(Ala35128=)	NC_000002.11:g.179395958T>C	(Likely) benign	2 labs	3fccdf5f71
1:156846233 NTRK1 G>A	1	156846233	156846233	G	A	NTRK1	c.1674G>A	NM_002529.4	NP_002520.2:p.(Gln558=)	NC_000001.10:g.156846233G>A	(Likely) benign	3 labs	3fe6e0405a
2:50699551 NRXN1 T>C	2	50699551	50699551	T	C	NRXN1	c.3249A>G	NM_001135659.3	NP_001129131.1:p.(Val1083=)	NC_000002.11:g.50699551T>C	(Likely) benign	3 labs	3feba574dd
2:179518003 TTN A>G	2	179518003	179518003	A	G	TTN	c.38753T>C	NM_001267550.2	NP_001254479.2:p.(Leu12918Ser)	NC_000002.11:g.179518003A>G	(Likely) benign	3 labs	3fecee46a2
7:154679447 DPP6 G>A	7	154679447	154679447	G	A	DPP6	c.2112+3G>A	NM_001039350.3	NP_001034439.1:p.?	NC_000007.13:g.154679447G>A	(Likely) benign	3 labs	400912e7af
8:61769429 CHD7 A>G	8	61769429	61769429	A	G	CHD7	c.7590A>G	NM_017780.4	NP_060250.2:p.(Lys2530=)	NC_000008.10:g.61769429A>G	(Likely) benign	4 labs	403615a80f
17:7812029 CHD3 G>A	17	7812029	7812029	G	A	CHD3	c.5453G>A	NM_001005271.3	NP_001005271.2:p.(Arg1818Gln)	NC_000017.10:g.7812029G>A	VUS	2 labs	36991ab3ae
2:179422174 TTN T>C	2	179422174	179422174	T	C	TTN	c.87815A>G	NM_001267550.2	NP_001254479.2:p.(Tyr29272Cys)	NC_000002.11:g.179422174T>C	VUS	3 labs	4051f1349b
19:11319636 DOCK6 G>A	19	11319636	11319636	G	A	DOCK6	c.4895C>T	NM_020812.4	NP_065863.2:p.(Ala1632Val)	NC_000019.9:g.11319636G>A	(Likely) benign	3 labs	405c355131
11:65487567 RNASEH2C G>C	11	65487567	65487567	G	C	RNASEH2C	c.417C>G	NM_032193.4	NP_115569.2:p.(Gly139=)	NC_000011.9:g.65487567G>C	(Likely) benign	2 labs	405dcaeb8c
10:69954234 MYPN G>A	10	69954234	69954234	G	A	MYPN	c.3040G>A	NM_032578.4	NP_115967.2:p.(Asp1014Asn)	NC_000010.10:g.69954234G>A	VUS	3 labs	40600d0197
8:145739731 RECQL4 C>T	8	145739731	145739731	C	T	RECQL4	c.1720G>A	NM_004260.4	NP_004251.4:p.(Val574Ile)	NC_000008.10:g.145739731C>T	VUS	2 labs	36d2a09c97
12:80765800 OTOGL A>G	12	80765800	80765800	A	G	OTOGL	c.6737A>G	NM_173591.7	NP_775862.4:p.(Asn2246Ser)	NC_000012.11:g.80765800A>G	(Likely) benign	2 labs	36e5d7d1be
1:158644105 SPTA1 T>A	1	158644105	158644105	T	A	SPTA1	c.1350+14A>T	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158644105T>A	(Likely) benign	2 labs	406a6b3d99
14:23890267 MYH7 A>G	14	23890267	23890267	A	G	MYH7	c.3246-10T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23890267A>G	(Likely) benign	3 labs	407b911fa5
2:189855752 COL3A1 A>G	2	189855752	189855752	A	G	COL3A1	c.821A>G	NM_000090.4	NP_000081.2:p.(Glu274Gly)	NC_000002.11:g.189855752A>G	VUS	2 labs	408d46de43
19:36321958 NPHS1 G>A	19	36321958	36321958	G	A	NPHS1	c.3478C>T	NM_004646.3	NP_004637.1:p.(Arg1160Ter)	NC_000019.9:g.36321958G>A	(Likely) pathogenic	2 labs	36ed45ac44
2:179535018 TTN C>T	2	179535018	179535018	C	T	TTN	c.35313G>A	NM_001267550.2	NP_001254479.2:p.(Pro11771=)	NC_000002.11:g.179535018C>T	(Likely) benign	2 labs	370cefd56b
2:179582547 TTN AG>A	2	179582547	179582548	AG	A	TTN	c.24113-11del	NM_001256850.1	NP_001243779.1:p.?	NC_000002.11:g.179582548del	(Likely) benign	2 labs	40963b40a9
2:179413571 TTN C>G	2	179413571	179413571	C	G	TTN	c.92782G>C	NM_001267550.2	NP_001254479.2:p.(Asp30928His)	NC_000002.11:g.179413571C>G	VUS	2 labs	409d305b16
11:118373862 KMT2A G>A	11	118373862	118373862	G	A	KMT2A	c.7255G>A	NM_001197104.2	NP_001184033.1:p.(Glu2419Lys)	NC_000011.9:g.118373862G>A	(Likely) benign	2 labs	372036fe30
12:33003866 PKP2 T>TA	12	33003866	33003867	T	TA	PKP2	c.1211dup	NM_004572.4	NP_004563.2:p.(Val406SerfsTer4)	NC_000012.11:g.33003867dup	(Likely) pathogenic	6 labs	40a3341df2
18:21353571 LAMA3 GGTGTATCTTAGCCTGT>G	18	21353571	21353592	GGTGTATCTTAGCCTGT	G	LAMA3	c.1299_1314del	NM_001302996.2	NP_001289925.1:p.(Leu434CysfsTer31)	NC_000018.9:g.21353577_21353592del	VUS	2 labs	40aad98052
1:201331143 TNNT2 C>T	1	201331143	201331143	C	T	TNNT2	c.587G>A	NM_001001430.3	NP_001001430.1:p.(Arg196Gln)	NC_000001.10:g.201331143C>T	VUS	2 labs	3751dddbaf
1:154575040 ADAR C>T	1	154575040	154575040	C	T	ADAR	c.78G>A	NM_001111.5	NP_001102.3:p.(Arg26=)	NC_000001.10:g.154575040C>T	(Likely) benign	2 labs	40c35cfd36
5:177422876 PROP1 T>C	5	177422876	177422876	T	C	PROP1	c.59A>G	NM_006261.5	NP_006252.4:p.(Asn20Ser)	NC_000005.9:g.177422876T>C	(Likely) benign	2 labs	40da48d026
16:81927404 PLCG2 G>A	16	81927404	81927404	G	A	PLCG2	c.1072+5G>A	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81927404G>A	VUS	2 labs	37718acea5
6:161137779 PLG T>C	6	161137779	161137779	T	C	PLG	c.771T>C	NM_000301.5	NP_000292.1:p.(Cys257=)	NC_000006.11:g.161137779T>C	(Likely) benign	2 labs	377305d1fd
9:98240378 PTCH1 C>T	9	98240378	98240378	C	T	PTCH1	c.1306G>A	NM_000264.5	NP_000255.2:p.(Asp436Asn)	NC_000009.11:g.98240378C>T	(Likely) benign	2 labs	378ea95878
4:190883051 FRG1 G>A	4	190883051	190883051	G	A	FRG1	c.704G>A	NM_004477.3	NP_004468.1:p.(Arg235Gln)	NC_000004.11:g.190883051G>A	(Likely) benign	2 labs	40f162aa77
9:21971006 CDKN2A C>T	9	21971006	21971006	C	T	CDKN2A	c.352G>A	NM_001195132.2	NP_001182061.1:p.(Ala118Thr)	NC_000009.11:g.21971006C>T	(Likely) pathogenic	3 labs	37a9cb8fd9
12:22015933 ABCC9 T>C	12	22015933	22015933	T	C	ABCC9	c.2293A>G	NM_020297.4	NP_064693.2:p.(Thr765Ala)	NC_000012.11:g.22015933T>C	VUS	2 labs	37b28db45f
7:100771717 SERPINE1 G>A	7	100771717	100771717	G	A	SERPINE1	c.43G>A	NM_000602.5	NP_000593.1:p.(Ala15Thr)	NC_000007.13:g.100771717G>A	(Likely) benign	3 labs	40fe3d75e0
11:17627613 OTOG G>C	11	17627613	17627613	G	C	OTOG	c.4123G>C	NM_001277269.2	NP_001264198.1:p.(Ala1375Pro)	NC_000011.9:g.17627613G>C	(Likely) benign	2 labs	37de44f399
1:16383348 CLCNKB C>T	1	16383348	16383348	C	T	CLCNKB	c.2017-16C>T	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16383348C>T	(Likely) benign	2 labs	37e66051e8
7:6035184 PMS2 C>T	7	6035184	6035184	C	T	PMS2	c.884G>A	NM_000535.7	NP_000526.2:p.(Arg295Gln)	NC_000007.13:g.6035184C>T	VUS	2 labs	39fe0438a0
2:179435968 TTN G>A	2	179435968	179435968	G	A	TTN	c.74891C>T	NM_001267550.2	NP_001254479.2:p.(Pro24964Leu)	NC_000002.11:g.179435968G>A	(Likely) benign	2 labs	4143d7fb61
1:74929125 TNNI3K C>T	1	74929125	74929125	C	T	TNNI3K	c.2012C>T	NM_015978.3	NP_057062.1:p.(Ala671Val)	NC_000001.10:g.74929125C>T	VUS	2 labs	414c03d7d1
17:17125879 FLCN G>A	17	17125879	17125879	G	A	FLCN	c.715C>T	NM_144997.7	NP_659434.2:p.(Arg239Cys)	NC_000017.10:g.17125879G>A	VUS	2 labs	381f24c27d
17:29684041 NF1 CA>C	17	29684041	29684044	CA	C	NF1	c.7742del	NM_000267.3	NP_000258.1:p.(Asn2581MetfsTer22)	NC_000017.10:g.29684044del	(Likely) pathogenic	2 labs	416359bd72
10:12131218 DHTKD1 C>T	10	12131218	12131218	C	T	DHTKD1	c.951C>T	NM_018706.7	NP_061176.4:p.(Asn317=)	NC_000010.10:g.12131218C>T	(Likely) benign	3 labs	416447bc47
9:140130882 SLC34A3 A>C	9	140130882	140130882	A	C	SLC34A3	c.*14A>C	NM_001177317.1	NP_001170788.1:p.?	NC_000009.11:g.140130882A>C	(Likely) benign	2 labs	384948b7dc
18:2724899 SMCHD1 G>T	18	2724899	2724899	G	T	SMCHD1	c.2606G>T	NM_015295.3	NP_056110.2:p.(Gly869Val)	NC_000018.9:g.2724899G>T	VUS	2 labs	384a4f3f3e
13:22275394 FGF9 A>G	13	22275394	22275394	A	G	FGF9	c.447A>G	NM_002010.3	NP_002001.1:p.(Ser149=)	NC_000013.10:g.22275394A>G	(Likely) benign	2 labs	385905dcd6
1:120459166 NOTCH2 C>T	1	120459166	120459166	C	T	NOTCH2	c.6179G>A	NM_024408.4	NP_077719.2:p.(Arg2060His)	NC_000001.10:g.120459166C>T	(Likely) benign	2 labs	3866dcac33
8:145107999 OPLAH G>A	8	145107999	145107999	G	A	OPLAH	c.2905C>T	NM_017570.5	NP_060040.1:p.(Arg969Cys)	NC_000008.10:g.145107999G>A	VUS	2 labs	4174e4ff76
14:24711465 TINF2 C>G	14	24711465	24711465	C	G	TINF2	c.74G>C	NM_012461.3	NP_036593.2:p.(Gly25Ala)	NC_000014.8:g.24711465C>G	(Likely) benign	3 labs	417c20cf67
1:20981976 DDOST C>T	1	20981976	20981976	C	T	DDOST	c.508G>A	NM_005216.5	NP_005207.3:p.(Val170Ile)	NC_000001.10:g.20981976C>T	(Likely) benign	2 labs	388ea835fb
11:47367871 MYBPC3 C>T	11	47367871	47367871	C	T	MYBPC3	c.977G>A	NM_000256.3	NP_000247.2:p.(Arg326Gln)	NC_000011.9:g.47367871C>T	(Likely) benign	5 labs	419f69a14a
9:133924451 LAMC3 C>T	9	133924451	133924451	C	T	LAMC3	c.1564C>T	NM_006059.4	NP_006050.3:p.(Pro522Ser)	NC_000009.11:g.133924451C>T	(Likely) benign	2 labs	41b0718b8e
8:100844858 VPS13B C>T	8	100844858	100844858	C	T	VPS13B	c.9667C>T	NM_017890.5	NP_060360.3:p.(Arg3223Trp)	NC_000008.10:g.100844858C>T	(Likely) benign	5 labs	41b17a3116
10:64950833 JMJD1C C>G	10	64950833	64950833	C	G	JMJD1C	c.6112G>C	NM_032776.3	NP_116165.1:p.(Glu2038Gln)	NC_000010.10:g.64950833C>G	VUS	2 labs	41b4aea150
18:29175207 TTR G>A	18	29175207	29175207	G	A	TTR	c.325G>A	NM_000371.4	NP_000362.1:p.(Glu109Lys)	NC_000018.9:g.29175207G>A	(Likely) pathogenic	2 labs	41b4af65f5
3:43618366 ANO10 T>C	3	43618366	43618366	T	C	ANO10	c.980A>G	NM_001204831.3	NP_001191760.1:p.(Tyr327Cys)	NC_000003.11:g.43618366T>C	(Likely) benign	2 labs	41b70b4172
2:179620951 TTN C>T	2	179620951	179620951	C	T	TTN	c.11252G>A	NM_001267550.2	NP_001254479.2:p.(Gly3751Asp)	NC_000002.11:g.179620951C>T	(Likely) benign	3 labs	41c3a580a1
9:35657962 RMRP G>A	9	35657962	35657962	G	A	RMRP	n.54C>T	NR_003051.3		NC_000009.11:g.35657962G>A	(Likely) benign	3 labs	41cf936a62
17:78073355 CCDC40 A>G	17	78073355	78073355	A	G	CCDC40	c.3210A>G	NM_017950.4	NP_060420.2:p.(Thr1070=)	NC_000017.10:g.78073355A>G	(Likely) benign	2 labs	41d232397e
4:187122319 CYP4V2 T>G	4	187122319	187122319	T	G	CYP4V2	c.810T>G	NM_207352.4	NP_997235.3:p.(Ala270=)	NC_000004.11:g.187122319T>G	(Likely) benign	2 labs	38ee780918
10:112572033 RBM20 C>T	10	112572033	112572033	C	T	RBM20	c.1881-3C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112572033C>T	(Likely) benign	5 labs	41dd729245
2:179430588 TTN G>A	2	179430588	179430588	G	A	TTN	c.80271C>T	NM_001267550.2	NP_001254479.2:p.(Val26757=)	NC_000002.11:g.179430588G>A	(Likely) benign	4 labs	41e756bafe
2:179397981 TTN TC>T	2	179397981	179397983	TC	T	TTN	c.103360del	NM_001267550.2	NP_001254479.2:p.(Glu34454AsnfsTer3)	NC_000002.11:g.179397983del	(Likely) pathogenic	3 labs	41e8c2d7d9
17:59853850 BRIP1 A>G	17	59853850	59853850	A	G	BRIP1	c.2009T>C	NM_032043.3	NP_114432.2:p.(Phe670Ser)	NC_000017.10:g.59853850A>G	VUS	3 labs	41f04173fa
2:179584987 TTN A>T	2	179584987	179584987	A	T	TTN	c.23382T>A	NM_001267550.2	NP_001254479.2:p.(Pro7794=)	NC_000002.11:g.179584987A>T	(Likely) benign	5 labs	41f15173e0
20:3897559 PANK2 T>TTCCCCC	20	3897559	3897561	T	TTCCCCC	PANK2	c.1413-14_1413-13insCCCCCT	NM_153638.4	NP_705902.2:p.?	NC_000020.10:g.3897560_3897561insCCCCCT	(Likely) benign	2 labs	41ff030f76
2:240066417 HDAC4 A>G	2	240066417	240066417	A	G	HDAC4	c.734-7T>C	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240066417A>G	(Likely) benign	2 labs	395660a174
16:70296275 AARS1 C>T	16	70296275	70296275	C	T	AARS1	c.1645G>A	NM_001605.3	NP_001596.2:p.(Val549Met)	NC_000016.9:g.70296275C>T	VUS	2 labs	39c7acd604
3:38591829 SCN5A G>A	3	38591829	38591829	G	A	SCN5A	c.6034C>T	NM_001099404.2	NP_001092874.1:p.(Arg2012Cys)	NC_000003.11:g.38591829G>A	VUS	3 labs	42261047e9
1:120539915 NOTCH2 G>A	1	120539915	120539915	G	A	NOTCH2	c.456C>T	NM_024408.4	NP_077719.2:p.(Pro152=)	NC_000001.10:g.120539915G>A	(Likely) benign	4 labs	4228e90138
1:237948149 RYR2 C>A	1	237948149	237948149	C	A	RYR2	c.13137C>A	NM_001035.3	NP_001026.2:p.(Ile4379=)	NC_000001.10:g.237948149C>A	(Likely) benign	2 labs	395c61ef68
12:94761906 CEP83 G>A	12	94761906	94761906	G	A	CEP83	c.1120C>T	NM_016122.3	NP_057206.2:p.(Arg374Cys)	NC_000012.11:g.94761906G>A	VUS	2 labs	398142b072
6:108243121 SEC63 A>G	6	108243121	108243121	A	G	SEC63	c.340-8T>C	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243121A>G	(Likely) benign	2 labs	39a0b76c45
6:33139328 COL11A2 C>T	6	33139328	33139328	C	T	COL11A2	c.3174G>A	NM_080680.3	NP_542411.2:p.(Pro1058=)	NC_000006.11:g.33139328C>T	(Likely) benign	2 labs	39b08fd294
19:11218167 LDLR C>T	19	11218167	11218167	C	T	LDLR	c.917C>T	NM_000527.5	NP_000518.1:p.(Ser306Leu)	NC_000019.9:g.11218167C>T	(Likely) pathogenic	2 labs	425b3dc26b
20:44523547 CTSA G>A	20	44523547	44523547	G	A	CTSA	c.948+7G>A	NM_001127695.3	NP_001121167.1:p.?	NC_000020.10:g.44523547G>A	(Likely) benign	2 labs	4268359664
15:43552349 TGM5 C>A	15	43552349	43552349	C	A	TGM5	c.337G>T	NM_201631.4	NP_963925.2:p.(Gly113Cys)	NC_000015.9:g.43552349C>A	(Likely) pathogenic	2 labs	3a003db131
8:145741702 RECQL4 C>G	8	145741702	145741702	C	G	RECQL4	c.801G>C	NM_004260.4	NP_004251.4:p.(Glu267Asp)	NC_000008.10:g.145741702C>G	(Likely) benign	2 labs	3a15e9ca4d
11:71152258 DHCR7 C>T	11	71152258	71152258	C	T	DHCR7	c.626+15G>A	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71152258C>T	(Likely) benign	2 labs	3a2918c80b
16:89574834 SPG7 G>T	16	89574834	89574834	G	T	SPG7	c.9G>T	NM_003119.4	NP_003110.1:p.(Val3=)	NC_000016.9:g.89574834G>T	(Likely) benign	2 labs	3a2b066e48
15:100801698 ADAMTS17 G>A	15	100801698	100801698	G	A	ADAMTS17	c.1017C>T	NM_139057.4	NP_620688.2:p.(Ala339=)	NC_000015.9:g.100801698G>A	(Likely) benign	2 labs	3a4ebfa71c
4:5747072 EVC C>T	4	5747072	5747072	C	T	EVC	c.939+4C>T	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5747072C>T	(Likely) benign	2 labs	3a5bd5d068
6:56504562 DST T>C	6	56504562	56504562	T	C	DST	c.1018A>G	NM_001723.7	NP_001714.1:p.(Thr340Ala)	NC_000006.11:g.56504562T>C	VUS	2 labs	42b1d343c9
22:36714271 MYH9 T>C	22	36714271	36714271	T	C	MYH9	c.1208A>G	NM_002473.6	NP_002464.1:p.(Lys403Arg)	NC_000022.10:g.36714271T>C	VUS	2 labs	3a79029544
6:126080512 HEY2 C>T	6	126080512	126080512	C	T	HEY2	c.578C>T	NM_012259.3	NP_036391.1:p.(Pro193Leu)	NC_000006.11:g.126080512C>T	VUS	3 labs	42d686b26b
1:26138262 SELENON T>C	1	26138262	26138262	T	C	SELENON	c.1173T>C	NM_020451.3	NP_065184.2:p.(Pro391=)	NC_000001.10:g.26138262T>C	(Likely) benign	4 labs	42da11c0a9
1:3102866 PRDM16 T>G	1	3102866	3102866	T	G	PRDM16	c.215T>G	NM_022114.4	NP_071397.3:p.(Val72Gly)	NC_000001.10:g.3102866T>G	VUS	2 labs	3aba0ec8f1
17:7919141 GUCY2D A>C	17	7919141	7919141	A	C	GUCY2D	c.3025A>C	NM_000180.4	NP_000171.1:p.(Met1009Leu)	NC_000017.10:g.7919141A>C	(Likely) pathogenic	3 labs	42fbef6d85
16:3304654 MEFV T>C	16	3304654	3304654	T	C	MEFV	c.414A>G	NM_000243.3	NP_000234.1:p.(Gly138=)	NC_000016.9:g.3304654T>C	(Likely) benign	2 labs	42fc169814
3:4704816 ITPR1 G>A	3	4704816	4704816	G	A	ITPR1	c.1435G>A	NM_001168272.2	NP_001161744.1:p.(Val479Ile)	NC_000003.11:g.4704816G>A	(Likely) benign	5 labs	431333dc9b
X:49071964 CACNA1F A>G	X	49071964	49071964	A	G	CACNA1F	c.3309=	NM_005183.4	NP_005174.2:p.(His1103=)	NC_000023.10:g.49071964A>G	(Likely) benign	2 labs	3adace140e
20:61981777 CHRNA4 T>C	20	61981777	61981777	T	C	CHRNA4	c.986A>G	NM_000744.7	NP_000735.1:p.(Asn329Ser)	NC_000020.10:g.61981777T>C	VUS	2 labs	3ae1cb13b5
6:42162388 GUCA1B A>G	6	42162388	42162388	A	G	GUCA1B	c.171T>C	NM_002098.6	NP_002089.4:p.(Tyr57=)	NC_000006.11:g.42162388A>G	(Likely) benign	2 labs	4323c024aa
11:66481634 SPTBN2 T>C	11	66481634	66481634	T	C	SPTBN2	c.584A>G	NM_006946.4	NP_008877.2:p.(Asn195Ser)	NC_000011.9:g.66481634T>C	VUS	2 labs	3aef6eb537
13:32937324 BRCA2 C>T	13	32937324	32937324	C	T	BRCA2	c.7985C>T	NM_000059.4	NP_000050.3:p.(Thr2662Met)	NC_000013.10:g.32937324C>T	(Likely) benign	2 labs	3b007af4b4
13:32914136 BRCA2 T>C	13	32914136	32914136	T	C	BRCA2	c.5644T>C	NM_000059.4	NP_000050.3:p.(Ser1882Pro)	NC_000013.10:g.32914136T>C	(Likely) benign	5 labs	432705e65b
1:201052310 CACNA1S A>T	1	201052310	201052310	A	T	CACNA1S	c.1373T>A	NM_000069.3	NP_000060.2:p.(Leu458His)	NC_000001.10:g.201052310A>T	(Likely) benign	2 labs	3b0b1200ac
19:42474392 ATP1A3 C>T	19	42474392	42474392	C	T	ATP1A3	c.2526G>A	NM_001256214.2	NP_001243143.1:p.(Pro842=)	NC_000019.9:g.42474392C>T	(Likely) benign	4 labs	433beebd42
1:156108314 LMNA G>A	1	156108314	156108314	G	A	LMNA	c.1734G>A	NM_170707.4	NP_733821.1:p.(Glu578=)	NC_000001.10:g.156108314G>A	(Likely) benign	2 labs	4342e72354
X:153577719 FLNA G>A	X	153577719	153577719	G	A	FLNA	c.7756+11C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153577719G>A	(Likely) benign	4 labs	4346818dc7
3:38651442 SCN5A G>A	3	38651442	38651442	G	A	SCN5A	c.717C>T	NM_001099404.2	NP_001092874.1:p.(Ile239=)	NC_000003.11:g.38651442G>A	(Likely) benign	4 labs	434d2f87d1
4:995530 IDUA T>C	4	995530	995530	T	C	IDUA	c.653T>C	NM_000203.5	NP_000194.2:p.(Leu218Pro)	NC_000004.11:g.995530T>C	(Likely) pathogenic	3 labs	43508ccada
16:23641594 PALB2 C>A	16	23641594	23641594	C	A	PALB2	c.1881G>T	NM_024675.4	NP_078951.2:p.(Val627=)	NC_000016.9:g.23641594C>A	(Likely) benign	2 labs	3b3670479b
8:133975283 TG G>A	8	133975283	133975283	G	A	TG	c.5512G>A	NM_003235.5	NP_003226.4:p.(Asp1838Asn)	NC_000008.10:g.133975283G>A	(Likely) benign	2 labs	435f9b0ffd
16:1503879 CLCN7 T>A	16	1503879	1503879	T	A	CLCN7	c.1170A>T	NM_001287.6	NP_001278.1:p.(Ala390=)	NC_000016.9:g.1503879T>A	(Likely) benign	2 labs	3b6622faf2
22:18900750 PRODH G>A	22	18900750	18900750	G	A	PRODH	c.1741C>T	NM_016335.6	NP_057419.5:p.(Leu581=)	NC_000022.10:g.18900750G>A	(Likely) benign	2 labs	3b6ed6ab8b
20:50408482 SALL4 A>G	20	50408482	50408482	A	G	SALL4	c.540T>C	NM_020436.5	NP_065169.1:p.(Asn180=)	NC_000020.10:g.50408482A>G	(Likely) benign	2 labs	3b74d2df91
12:22040823 ABCC9 G>A	12	22040823	22040823	G	A	ABCC9	c.1848C>T	NM_020297.4	NP_064693.2:p.(Asp616=)	NC_000012.11:g.22040823G>A	(Likely) benign	4 labs	4375ac5a64
X:152037592 NSDHL C>T	X	152037592	152037592	C	T	NSDHL	c.1054C>T	NM_001129765.2	NP_001123237.1:p.(Leu352=)	NC_000023.10:g.152037592C>T	(Likely) benign	3 labs	4376a457f0
X:119603038 LAMP2 AGGCGGCGAC>A	X	119603038	119603063	AGGCGGCGAC	A	LAMP2	c.-23_-15del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119603055_119603063del	(Likely) benign	3 labs	4379d8f6bb
1:230845794 AGT A>G	1	230845794	230845794	A	G	AGT	c.776T>C	NM_001382817.3	NP_001369746.2:p.(Met259Thr)	NC_000001.10:g.230845794A>G	(Likely) benign	2 labs	3b8b127ae5
1:201333454 TNNT2 C>T	1	201333454	201333454	C	T	TNNT2	c.431G>A	NM_001001430.3	NP_001001430.1:p.(Arg144Gln)	NC_000001.10:g.201333454C>T	VUS	5 labs	d9df8b185b
11:45937267 PEX16 C>T	11	45937267	45937267	C	T	PEX16	c.346G>A	NM_004813.4	NP_004804.2:p.(Val116Ile)	NC_000011.9:g.45937267C>T	(Likely) benign	2 labs	3ba321b976
17:74477620 RHBDF2 C>T	17	74477620	74477620	C	T	RHBDF2	c.-14G>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74477620C>T	(Likely) benign	2 labs	3ba842f23b
22:29099553 CHEK2 G>T	22	29099553	29099553	G	T	CHEK2	c.848C>A	NM_007194.4	NP_009125.1:p.(Pro283His)	NC_000022.10:g.29099553G>T	VUS	2 labs	3bb1c64727
19:12918112 RNASEH2A C>G	19	12918112	12918112	C	G	RNASEH2A	c.292C>G	NM_006397.3	NP_006388.2:p.(Pro98Ala)	NC_000019.9:g.12918112C>G	VUS	2 labs	3bc28e1a76
2:48026571 MSH6 G>T	2	48026571	48026571	G	T	MSH6	c.1449G>T	NM_000179.3	NP_000170.1:p.(Val483=)	NC_000002.11:g.48026571G>T	(Likely) benign	7 labs	43a20339ce
14:88407888 GALC A>G	14	88407888	88407888	A	G	GALC	c.1685T>C	NM_000153.4	NP_000144.2:p.(Ile562Thr)	NC_000014.8:g.88407888A>G	(Likely) benign	4 labs	43a64624f2
6:123702499 TRDN G>A	6	123702499	123702499	G	A	TRDN	c.1186+16C>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123702499G>A	(Likely) benign	2 labs	43b20453fc
2:48030589 MSH6 G>C	2	48030589	48030589	G	C	MSH6	c.3203G>C	NM_000179.3	NP_000170.1:p.(Arg1068Pro)	NC_000002.11:g.48030589G>C	VUS	2 labs	3bdff8dabc
6:13160430 PHACTR1 T>C	6	13160430	13160430	T	C	PHACTR1	c.416-6T>C	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13160430T>C	(Likely) benign	2 labs	3beea0397b
11:26681990 ANO3 A>G	11	26681990	26681990	A	G	ANO3	c.3128A>G	NM_001313726.2	NP_001300655.1:p.(Ter1043TrpextTer7)	NC_000011.9:g.26681990A>G	VUS	2 labs	3bf85903b7
18:32455193 DTNA G>T	18	32455193	32455193	G	T	DTNA	c.1504-10G>T	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32455193G>T	(Likely) benign	3 labs	43bfd61536
3:41266654 CTNNB1 C>T	3	41266654	41266654	C	T	CTNNB1	c.451C>T	NM_001904.4	NP_001895.1:p.(Arg151Cys)	NC_000003.11:g.41266654C>T	VUS	2 labs	3c0ca6c47f
11:46914598 LRP4 A>G	11	46914598	46914598	A	G	LRP4	c.1623T>C	NM_002334.4	NP_002325.2:p.(Asp541=)	NC_000011.9:g.46914598A>G	(Likely) benign	2 labs	3c17e16bd0
X:132838305 GPC3 G>T	X	132838305	132838305	G	T	GPC3	c.1033-4C>A	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132838305G>T	(Likely) benign	2 labs	43cb6d51fc
1:155870416 RIT1 G>A	1	155870416	155870416	G	A	RIT1	c.430-7C>T	NM_006912.6	NP_008843.1:p.?	NC_000001.10:g.155870416G>A	(Likely) benign	2 labs	43d4f3973a
14:55369314 GCH1 G>A	14	55369314	55369314	G	A	GCH1	c.68C>T	NM_000161.3	NP_000152.1:p.(Pro23Leu)	NC_000014.8:g.55369314G>A	(Likely) benign	4 labs	43da3adfd5
8:145737286 RECQL4 G>A	8	145737286	145737286	G	A	RECQL4	c.3393+8C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737286G>A	(Likely) benign	2 labs	3c266370de
X:154743837 TMLHE T>A	X	154743837	154743837	T	A	TMLHE	c.448A>T	NM_018196.4	NP_060666.1:p.(Ile150Leu)	NC_000023.10:g.154743837T>A	(Likely) benign	2 labs	3c2ba762f5
17:68172286 KCNJ2 C>T	17	68172286	68172286	C	T	KCNJ2	c.1106C>T	NM_000891.3	NP_000882.1:p.(Ser369Leu)	NC_000017.10:g.68172286C>T	VUS	2 labs	43f4ad3d78
3:4699844 ITPR1 C>T	3	4699844	4699844	C	T	ITPR1	c.988C>T	NM_002222.7	NP_002213.5:p.(Arg330Trp)	NC_000003.11:g.4699844C>T	VUS	2 labs	3c41e51f01
15:40699940 IVD T>C	15	40699940	40699940	T	C	IVD	c.234+14T>C	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40699940T>C	(Likely) benign	3 labs	3c4f3f0fd1
1:11307709 MTOR C>T	1	11307709	11307709	C	T	MTOR	c.1198G>A	NM_004958.4	NP_004949.1:p.(Ala400Thr)	NC_000001.10:g.11307709C>T	VUS	2 labs	3d2a468d4c
8:143823761 SLURP1 A>G	8	143823761	143823761	A	G	SLURP1	c.43T>C	NM_020427.3	NP_065160.1:p.(Trp15Arg)	NC_000008.10:g.143823761A>G	(Likely) pathogenic	2 labs	3c4f7acea1
9:94519702 ROR2 C>A	9	94519702	94519702	C	A	ROR2	c.315G>T	NM_004560.4	NP_004551.2:p.(Glu105Asp)	NC_000009.11:g.94519702C>A	VUS	2 labs	3c5b5f2c88
X:152958803 SLC6A8 TCAA>T	X	152958803	152958813	TCAA	T	SLC6A8	c.1006_1008del	NM_005629.4	NP_005620.1:p.(Asn336del)	NC_000023.10:g.152958811_152958813del	(Likely) pathogenic	2 labs	43fd6b5a4d
16:23646627 PALB2 G>A	16	23646627	23646627	G	A	PALB2	c.1240C>T	NM_024675.4	NP_078951.2:p.(Arg414Ter)	NC_000016.9:g.23646627G>A	(Likely) pathogenic	4 labs	44008c438f
3:142261533 ATR T>C	3	142261533	142261533	T	C	ATR	c.3424A>G	NM_001184.4	NP_001175.2:p.(Ser1142Gly)	NC_000003.11:g.142261533T>C	VUS	2 labs	3c641e4565
3:48508395 TREX1 G>A	3	48508395	48508395	G	A	TREX1	c.341G>A	NM_033629.6	NP_338599.1:p.(Arg114His)	NC_000003.11:g.48508395G>A	(Likely) pathogenic	5 labs	4407b33ff0
11:47363566 MYBPC3 C>T	11	47363566	47363566	C	T	MYBPC3	c.1766G>A	NM_000256.3	NP_000247.2:p.(Arg589His)	NC_000011.9:g.47363566C>T	VUS	2 labs	440f6e43c1
10:121436023 BAG3 C>G	10	121436023	121436023	C	G	BAG3	c.957C>G	NM_004281.4	NP_004272.2:p.(Asn319Lys)	NC_000010.10:g.121436023C>G	VUS	2 labs	4410943d81
17:15905225 TTC19 T>C	17	15905225	15905225	T	C	TTC19	c.-9-4T>C	NM_001271420.2	NP_001258349.1:p.?	NC_000017.10:g.15905225T>C	(Likely) benign	2 labs	44123926d5
10:75854181 VCL G>A	10	75854181	75854181	G	A	VCL	c.1505G>A	NM_014000.3	NP_054706.1:p.(Arg502Gln)	NC_000010.10:g.75854181G>A	VUS	2 labs	441d578ce4
2:47703579 MSH2 T>A	2	47703579	47703579	T	A	MSH2	c.2079T>A	NM_000251.3	NP_000242.1:p.(Cys693Ter)	NC_000002.11:g.47703579T>A	(Likely) pathogenic	2 labs	3cc20a21fb
14:23871947 MYH6 C>G	14	23871947	23871947	C	G	MYH6	c.961G>C	NM_002471.4	NP_002462.2:p.(Val321Leu)	NC_000014.8:g.23871947C>G	VUS	3 labs	4423eb239d
5:112154969 APC C>T	5	112154969	112154969	C	T	APC	c.1240C>T	NM_000038.6	NP_000029.2:p.(Arg414Cys)	NC_000005.9:g.112154969C>T	(Likely) benign	5 labs	44304f775b
18:28926120 DSG1 G>A	18	28926120	28926120	G	A	DSG1	c.2059G>A	NM_001942.4	NP_001933.2:p.(Gly687Arg)	NC_000018.9:g.28926120G>A	VUS	2 labs	3cee93bf6e
19:41858864 TGFB1 C>T	19	41858864	41858864	C	T	TGFB1	c.86G>A	NM_000660.7	NP_000651.3:p.(Gly29Glu)	NC_000019.9:g.41858864C>T	VUS	2 labs	3cfb4161e8
16:23632678 PALB2 C>G	16	23632678	23632678	C	G	PALB2	c.3113+5G>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23632678C>G	(Likely) pathogenic	3 labs	44504d3b9d
13:32903621 BRCA2 AC>A	13	32903621	32903622	AC	A	BRCA2	c.674del	NM_000059.4	NP_000050.3:p.(Thr225IlefsTer5)	NC_000013.10:g.32903622del	(Likely) pathogenic	2 labs	445d5366ed
3:183859764 EIF2B5 C>T	3	183859764	183859764	C	T	EIF2B5	c.1208C>T	NM_003907.3	NP_003898.2:p.(Ala403Val)	NC_000003.11:g.183859764C>T	(Likely) pathogenic	2 labs	3d222bb32d
1:169498834 F5 T>C	1	169498834	169498834	T	C	F5	c.5419+12A>G	NM_000130.5	NP_000121.2:p.?	NC_000001.10:g.169498834T>C	(Likely) benign	2 labs	3d235da377
2:179600708 TTN G>A	2	179600708	179600708	G	A	TTN	c.14465C>T	NM_001267550.2	NP_001254479.2:p.(Pro4822Leu)	NC_000002.11:g.179600708G>A	VUS	3 labs	446305e15b
7:128483359 FLNC G>T	7	128483359	128483359	G	T	FLNC	c.2627G>T	NM_001458.5	NP_001449.3:p.(Gly876Val)	NC_000007.13:g.128483359G>T	VUS	4 labs	446447aa6c
10:69970102 MYPN G>A	10	69970102	69970102	G	A	MYPN	c.3853G>A	NM_032578.4	NP_115967.2:p.(Gly1285Arg)	NC_000010.10:g.69970102G>A	VUS	3 labs	448dd4553e
10:121429412 BAG3 C>T	10	121429412	121429412	C	T	BAG3	c.230C>T	NM_004281.4	NP_004272.2:p.(Pro77Leu)	NC_000010.10:g.121429412C>T	(Likely) benign	4 labs	449658cfd2
13:32907007 BRCA2 G>A	13	32907007	32907007	G	A	BRCA2	c.1392G>A	NM_000059.4	NP_000050.3:p.(Val464=)	NC_000013.10:g.32907007G>A	(Likely) benign	2 labs	3d4330c963
5:178416288 GRM6 G>A	5	178416288	178416288	G	A	GRM6	c.1131C>T	NM_000843.4	NP_000834.2:p.(Asp377=)	NC_000005.9:g.178416288G>A	(Likely) benign	2 labs	3d4da7f96c
8:30999280 WRN G>T	8	30999280	30999280	G	T	WRN	c.3222G>T	NM_000553.6	NP_000544.2:p.(Leu1074Phe)	NC_000008.10:g.30999280G>T	(Likely) benign	2 labs	449ca7692e
1:55517952 PCSK9 C>T	1	55517952	55517952	C	T	PCSK9	c.525C>T	NM_174936.4	NP_777596.2:p.(Asp175=)	NC_000001.10:g.55517952C>T	(Likely) benign	2 labs	44a02a6ba1
20:10653387 JAG1 G>C	20	10653387	10653387	G	C	JAG1	c.349C>G	NM_000214.3	NP_000205.1:p.(Arg117Gly)	NC_000020.10:g.10653387G>C	VUS	2 labs	44a09fcae5
22:29092931 CHEK2 C>A	22	29092931	29092931	C	A	CHEK2	c.1053G>T	NM_007194.4	NP_009125.1:p.(Glu351Asp)	NC_000022.10:g.29092931C>A	VUS	6 labs	44a6e0bbbe
X:54497833 FGD1 C>T	X	54497833	54497833	C	T	FGD1	c.395G>A	NM_004463.3	NP_004454.2:p.(Arg132Gln)	NC_000023.10:g.54497833C>T	(Likely) benign	5 labs	44ac6999fe
7:103053435 SLC26A5 A>G	7	103053435	103053435	A	G	SLC26A5	c.403+14T>C	NM_198999.3	NP_945350.1:p.?	NC_000007.13:g.103053435A>G	(Likely) benign	2 labs	3d61200978
2:21228827 APOB C>T	2	21228827	21228827	C	T	APOB	c.10913G>A	NM_000384.3	NP_000375.3:p.(Arg3638Gln)	NC_000002.11:g.21228827C>T	(Likely) benign	2 labs	3d6172744e
2:170129528 LRP2 G>A	2	170129528	170129528	G	A	LRP2	c.2025C>T	NM_004525.3	NP_004516.2:p.(Val675=)	NC_000002.11:g.170129528G>A	(Likely) benign	2 labs	3d6247449d
1:97771816 DPYD C>G	1	97771816	97771816	C	G	DPYD	c.2096G>C	NM_000110.4	NP_000101.2:p.(Arg699Thr)	NC_000001.10:g.97771816C>G	VUS	2 labs	3d6920a095
7:73474499 ELN G>T	7	73474499	73474499	G	T	ELN	c.1693G>T	NM_001278939.2	NP_001265868.1:p.(Ala565Ser)	NC_000007.13:g.73474499G>T	VUS	3 labs	3d6a0a8a4a
2:74213784 TET3 A>T	2	74213784	74213784	A	T	TET3	c.254A>T	NM_001287491.2	NP_001274420.1:p.(Lys85Ile)	NC_000002.11:g.74213784A>T	VUS	2 labs	3d841d0292
14:23899889 MYH7 G>A	14	23899889	23899889	G	A	MYH7	c.896-17C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23899889G>A	(Likely) benign	5 labs	44b4933c4d
13:32906541 BRCA2 C>A	13	32906541	32906541	C	A	BRCA2	c.926C>A	NM_000059.4	NP_000050.3:p.(Ser309Ter)	NC_000013.10:g.32906541C>A	(Likely) pathogenic	2 labs	3da1ccfbe1
10:69948714 MYPN G>A	10	69948714	69948714	G	A	MYPN	c.2756G>A	NM_032578.4	NP_115967.2:p.(Arg919His)	NC_000010.10:g.69948714G>A	VUS	2 labs	44bbd41f4a
9:98242652 PTCH1 C>T	9	98242652	98242652	C	T	PTCH1	c.747+20G>A	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98242652C>T	(Likely) benign	2 labs	3db3379afc
7:65439688 GUSB G>A	7	65439688	65439688	G	A	GUSB	c.1069C>T	NM_000181.4	NP_000172.2:p.(Arg357Ter)	NC_000007.13:g.65439688G>A	(Likely) pathogenic	4 labs	44d72bab33
12:133253950 POLE G>A	12	133253950	133253950	G	A	POLE	c.800C>T	NM_006231.4	NP_006222.2:p.(Pro267Leu)	NC_000012.11:g.133253950G>A	VUS	2 labs	3de26e50a6
11:71146639 DHCR7 G>A	11	71146639	71146639	G	A	DHCR7	c.1210C>T	NM_001360.3	NP_001351.2:p.(Arg404Cys)	NC_000011.9:g.71146639G>A	(Likely) pathogenic	2 labs	3de353f473
3:189612005 TP63 G>T	3	189612005	189612005	G	T	TP63	c.1757G>T	NM_003722.5	NP_003713.3:p.(Ser586Ile)	NC_000003.11:g.189612005G>T	VUS	2 labs	3de4aced0e
6:152466674 SYNE1 T>C	6	152466674	152466674	T	C	SYNE1	c.24780A>G	NM_033071.4	NP_149062.2:p.(Glu8260=)	NC_000006.11:g.152466674T>C	(Likely) benign	2 labs	44faff10bb
10:69934389 MYPN G>A	10	69934389	69934389	G	A	MYPN	c.2540G>A	NM_032578.4	NP_115967.2:p.(Gly847Glu)	NC_000010.10:g.69934389G>A	VUS	2 labs	44fc36b216
12:112910827 PTPN11 A>G	12	112910827	112910827	A	G	PTPN11	c.836A>G	NM_002834.5	NP_002825.3:p.(Tyr279Cys)	NC_000012.11:g.112910827A>G	(Likely) pathogenic	3 labs	3df88a22a9
13:22275583 FGF9 G>A	13	22275583	22275583	G	A	FGF9	c.*9G>A	NM_002010.3	NP_002001.1:p.?	NC_000013.10:g.22275583G>A	(Likely) benign	2 labs	3e148f2fc1
X:128674722 OCRL C>T	X	128674722	128674722	C	T	OCRL	c.41C>T	NM_000276.4	NP_000267.2:p.(Thr14Ile)	NC_000023.10:g.128674722C>T	(Likely) benign	4 labs	45029fc53c
14:23896983 MYH7 G>A	14	23896983	23896983	G	A	MYH7	c.1699C>T	NM_000257.4	NP_000248.2:p.(Arg567Cys)	NC_000014.8:g.23896983G>A	VUS	2 labs	4503a293e5
X:47307331 ZNF41 C>T	X	47307331	47307331	C	T	ZNF41	c.1838G>A	NM_153380.3	NP_700359.1:p.(Gly613Glu)	NC_000023.10:g.47307331C>T	VUS	2 labs	3e20fdfcf4
19:11233940 LDLR G>A	19	11233940	11233940	G	A	LDLR	c.2231G>A	NM_000527.5	NP_000518.1:p.(Arg744Gln)	NC_000019.9:g.11233940G>A	(Likely) benign	2 labs	3e226abb3d
9:130444685 STXBP1 C>T	9	130444685	130444685	C	T	STXBP1	c.1548C>T	NM_003165.6	NP_003156.1:p.(Ser516=)	NC_000009.11:g.130444685C>T	(Likely) benign	4 labs	45124e1327
7:40102462 CDK13 C>T	7	40102462	40102462	C	T	CDK13	c.2638C>T	NM_003718.5	NP_003709.3:p.(Arg880Cys)	NC_000007.13:g.40102462C>T	(Likely) pathogenic	3 labs	4516d7ea74
X:31224684 DMD A>G	X	31224684	31224684	A	G	DMD	c.9649+15T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31224684A>G	(Likely) benign	2 labs	451efe7659
21:44480616 CBS G>A	21	44480616	44480616	G	A	CBS	c.1080C>T	NM_000071.3	NP_000062.1:p.(Ala360=)	NC_000021.8:g.44480616G>A	(Likely) benign	3 labs	4525e5648b
2:179569964 TTN G>A	2	179569964	179569964	G	A	TTN	c.29541C>T	NM_001267550.2	NP_001254479.2:p.(Phe9847=)	NC_000002.11:g.179569964G>A	(Likely) benign	3 labs	4539341d65
3:52438502 BAP1 T>G	3	52438502	52438502	T	G	BAP1	c.1217A>C	NM_004656.4	NP_004647.1:p.(Glu406Ala)	NC_000003.11:g.52438502T>G	(Likely) benign	2 labs	3e5f5b9872
1:155205008 GBA1 C>G	1	155205008	155205008	C	G	GBA1	c.1483G>C	NM_001005741.3	NP_001005741.1:p.(Ala495Pro)	NC_000001.10:g.155205008C>G	VUS	2 labs	3e7a300f77
19:3907815 ATCAY G>A	19	3907815	3907815	G	A	ATCAY	c.442G>A	NM_033064.5	NP_149053.1:p.(Ala148Thr)	NC_000019.9:g.3907815G>A	VUS	2 labs	4542df41bc
17:19561011 ALDH3A2 GACTGAATT>G	17	19561011	19561028	GACTGAATT	G	ALDH3A2	c.681-37_681-30del	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19561021_19561028del	(Likely) benign	2 labs	455a3a0f40
15:35083508 ACTC1 T>TCACACA	15	35083508	35083554	T	TCACACA	ACTC1	c.809-18_809-13dup	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083549_35083554dup	(Likely) benign	4 labs	455aedfcef
5:90107108 ADGRV1 A>G	5	90107108	90107108	A	G	ADGRV1	c.16031A>G	NM_032119.4	NP_115495.3:p.(Glu5344Gly)	NC_000005.9:g.90107108A>G	(Likely) benign	2 labs	3e7f1ed76c
22:18904414 PRODH A>G	22	18904414	18904414	A	G	PRODH	c.1515T>C	NM_016335.6	NP_057419.5:p.(Phe505=)	NC_000022.10:g.18904414A>G	(Likely) benign	2 labs	3e8f8cbb9a
2:179446446 TTN G>A	2	179446446	179446446	G	A	TTN	c.66549C>T	NM_001267550.2	NP_001254479.2:p.(Asp22183=)	NC_000002.11:g.179446446G>A	(Likely) benign	2 labs	457a974bab
3:48609589 COL7A1 G>A	3	48609589	48609589	G	A	COL7A1	c.6994C>T	NM_000094.4	NP_000085.1:p.(Arg2332Ter)	NC_000003.11:g.48609589G>A	(Likely) pathogenic	2 labs	3e90f4ef06
16:89167443 ACSF3 T>C	16	89167443	89167443	T	C	ACSF3	c.354T>C	NM_001243279.3	NP_001230208.1:p.(Ser118=)	NC_000016.9:g.89167443T>C	(Likely) benign	2 labs	3ea82362c1
2:179590139 TTN T>C	2	179590139	179590139	T	C	TTN	c.20792A>G	NM_001267550.2	NP_001254479.2:p.(Asn6931Ser)	NC_000002.11:g.179590139T>C	(Likely) benign	4 labs	459076abad
15:48720526 FBN1 G>C	15	48720526	48720526	G	C	FBN1	c.6997+17C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720526G>C	(Likely) benign	3 labs	4592b3a7d5
12:116450690 MED13L T>G	12	116450690	116450690	T	G	MED13L	c.1192A>C	NM_015335.5	NP_056150.1:p.(Thr398Pro)	NC_000012.11:g.116450690T>G	VUS	2 labs	3eb8ce0c98
8:30999122 WRN C>T	8	30999122	30999122	C	T	WRN	c.3138+6C>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30999122C>T	(Likely) benign	2 labs	3ebb64e638
3:100949842 IMPG2 G>A	3	100949842	100949842	G	A	IMPG2	c.3381C>T	NM_016247.4	NP_057331.2:p.(Leu1127=)	NC_000003.11:g.100949842G>A	(Likely) benign	2 labs	3ebc19c5f1
3:136047691 PCCB C>T	3	136047691	136047691	C	T	PCCB	c.1490C>T	NM_000532.5	NP_000523.2:p.(Ala497Val)	NC_000003.11:g.136047691C>T	(Likely) benign	4 labs	45947a4625
X:135956586 RBMX T>C	X	135956586	135956586	T	C	RBMX	c.891A>G	NM_002139.4	NP_002130.2:p.(Thr297=)	NC_000023.10:g.135956586T>C	(Likely) benign	2 labs	459bf33153
20:62323150 RTEL1 C>T	20	62323150	62323150	C	T	RTEL1	c.2684C>T	NM_032957.5	NP_116575.3:p.(Pro895Leu)	NC_000020.10:g.62323150C>T	VUS	3 labs	3ec2064cfc
15:48762846 FBN1 C>T	15	48762846	48762846	C	T	FBN1	c.4444G>A	NM_000138.5	NP_000129.3:p.(Gly1482Ser)	NC_000015.9:g.48762846C>T	VUS	2 labs	45a277d502
1:39920758 MACF1 G>A	1	39920758	39920758	G	A	MACF1	c.14887G>A	NM_012090.5	NP_036222.3:p.(Ala4963Thr)	NC_000001.10:g.39920758G>A	(Likely) benign	2 labs	45a6278b4c
18:34273239 FHOD3 C>T	18	34273239	34273239	C	T	FHOD3	c.1564C>T	NM_025135.5	NP_079411.2:p.(Arg522Trp)	NC_000018.9:g.34273239C>T	VUS	3 labs	45a722279f
2:215646044 BARD1 G>A	2	215646044	215646044	G	A	BARD1	c.554C>T	NM_000465.4	NP_000456.2:p.(Pro185Leu)	NC_000002.11:g.215646044G>A	VUS	2 labs	45af9fac04
2:241664736 KIF1A C>T	2	241664736	241664736	C	T	KIF1A	c.3905G>A	NM_004321.8	NP_004312.2:p.(Arg1302His)	NC_000002.11:g.241664736C>T	VUS	3 labs	45b28ce2a7
14:23858271 MYH6 A>AG	14	23858271	23858281	A	AG	MYH6	c.3979-8dup	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858281dup	(Likely) benign	4 labs	45becf576d
1:169498975 F5 T>C	1	169498975	169498975	T	C	F5	c.5290A>G	NM_000130.5	NP_000121.2:p.(Met1764Val)	NC_000001.10:g.169498975T>C	(Likely) benign	2 labs	3f3b59d431
1:64097432 PGM1 C>T	1	64097432	64097432	C	T	PGM1	c.715C>T	NM_001172818.1	NP_001166289.1:p.(Arg239Cys)	NC_000001.10:g.64097432C>T	(Likely) benign	2 labs	3f409a79b2
10:89692980 PTEN A>G	10	89692980	89692980	A	G	PTEN	c.464A>G	NM_000314.8	NP_000305.3:p.(Tyr155Cys)	NC_000010.10:g.89692980A>G	(Likely) pathogenic	2 labs	3f65115edb
5:13719018 DNAH5 G>A	5	13719018	13719018	G	A	DNAH5	c.12472C>T	NM_001369.3	NP_001360.1:p.(Arg4158Trp)	NC_000005.9:g.13719018G>A	(Likely) benign	2 labs	3f659a2551
16:89167431 ACSF3 G>C	16	89167431	89167431	G	C	ACSF3	c.342G>C	NM_001243279.3	NP_001230208.1:p.(Ala114=)	NC_000016.9:g.89167431G>C	(Likely) benign	2 labs	3f6f5f9c87
16:2140454 PKD1 T>C	16	2140454	2140454	T	C	PKD1	c.12276A>G	NM_001009944.3	NP_001009944.3:p.(Ala4092=)	NC_000016.9:g.2140454T>C	(Likely) benign	2 labs	3f899d1df3
7:103124207 RELN T>C	7	103124207	103124207	T	C	RELN	c.10074A>G	NM_005045.4	NP_005036.2:p.(Ala3358=)	NC_000007.13:g.103124207T>C	(Likely) benign	3 labs	460160b42b
10:112583299 RBM20 G>A	10	112583299	112583299	G	A	RBM20	c.3378G>A	NM_001134363.3	NP_001127835.2:p.(Val1126=)	NC_000010.10:g.112583299G>A	(Likely) benign	2 labs	3fb8f6ddd7
17:39923625 JUP G>A	17	39923625	39923625	G	A	JUP	c.909+6C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39923625G>A	(Likely) benign	6 labs	461555def5
12:32945585 PKP2 T>A	12	32945585	32945585	T	A	PKP2	c.2570A>T	NM_004572.4	NP_004563.2:p.(Tyr857Phe)	NC_000012.11:g.32945585T>A	VUS	3 labs	461bbda880
22:29120962 CHEK2 T>A	22	29120962	29120962	T	A	CHEK2	c.592+3A>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29120962T>A	(Likely) pathogenic	4 labs	461cb5d7cf
1:3328429 PRDM16 G>A	1	3328429	3328429	G	A	PRDM16	c.1668G>A	NM_022114.4	NP_071397.3:p.(Leu556=)	NC_000001.10:g.3328429G>A	(Likely) benign	5 labs	462328bb14
12:49444249 KMT2D T>C	12	49444249	49444249	T	C	KMT2D	c.3122A>G	NM_003482.4	NP_003473.3:p.(Gln1041Arg)	NC_000012.11:g.49444249T>C	(Likely) benign	2 labs	3fd4d60df8
1:19202917 ALDH4A1 T>C	1	19202917	19202917	T	C	ALDH4A1	c.1230A>G	NM_003748.4	NP_003739.2:p.(Ser410=)	NC_000001.10:g.19202917T>C	(Likely) benign	2 labs	3fd8b710c9
2:21235252 APOB A>G	2	21235252	21235252	A	G	APOB	c.4488T>C	NM_000384.3	NP_000375.3:p.(Tyr1496=)	NC_000002.11:g.21235252A>G	(Likely) benign	2 labs	4637bcb24f
2:179410284 TTN G>A	2	179410284	179410284	G	A	TTN	c.95553C>T	NM_001267550.2	NP_001254479.2:p.(Ser31851=)	NC_000002.11:g.179410284G>A	(Likely) benign	4 labs	4645c77ce4
17:7574018 TP53 G>A	17	7574018	7574018	G	A	TP53	c.1009C>T	NM_000546.6	NP_000537.3:p.(Arg337Cys)	NC_000017.10:g.7574018G>A	(Likely) pathogenic	3 labs	3ff458eecc
X:32591859 DMD C>T	X	32591859	32591859	C	T	DMD	c.1704+3G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32591859C>T	(Likely) benign	3 labs	46549ea851
15:38643574 SPRED1 T>C	15	38643574	38643574	T	C	SPRED1	c.1044T>C	NM_152594.3	NP_689807.1:p.(Val348=)	NC_000015.9:g.38643574T>C	(Likely) benign	4 labs	4660f92fe1
2:228135631 COL4A3 C>T	2	228135631	228135631	C	T	COL4A3	c.1721C>T	NM_000091.5	NP_000082.2:p.(Pro574Leu)	NC_000002.11:g.228135631C>T	(Likely) benign	2 labs	4044f1ef30
6:7569587 DSP G>T	6	7569587	7569587	G	T	DSP	c.1574+14G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7569587G>T	(Likely) benign	4 labs	466e54cc5b
1:201337278 TNNT2 C>T	1	201337278	201337278	C	T	TNNT2	c.163+12G>A	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201337278C>T	(Likely) benign	5 labs	467c4a9837
2:216235089 FN1 C>T	2	216235089	216235089	C	T	FN1	c.6781G>A	NM_212482.4	NP_997647.2:p.(Val2261Ile)	NC_000002.11:g.216235089C>T	(Likely) benign	2 labs	406021254f
17:10542803 MYH3 T>C	17	10542803	10542803	T	C	MYH3	c.2926-12A>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10542803T>C	(Likely) benign	3 labs	468544d514
1:53676278 CPT2 A>G	1	53676278	53676278	A	G	CPT2	c.932A>G	NM_000098.3	NP_000089.1:p.(Asn311Ser)	NC_000001.10:g.53676278A>G	(Likely) benign	2 labs	46864937f1
6:36262162 PNPLA1 C>T	6	36262162	36262162	C	T	PNPLA1	c.700C>T	NM_001145717.1	NP_001139189.2:p.(Pro234Ser)	NC_000006.11:g.36262162C>T	(Likely) pathogenic	2 labs	408c054f84
2:71762232 DYSF C>T	2	71762232	71762232	C	T	DYSF	c.1446+13C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71762232C>T	(Likely) benign	3 labs	46ad44b013
7:92132483 PEX1 T>TA	7	92132483	92132486	T	TA	PEX1	c.2097dup	NM_000466.3	NP_000457.1:p.(Ile700TyrfsTer42)	NC_000007.13:g.92132486dup	(Likely) pathogenic	5 labs	46b3a788ee
22:29121230 CHEK2 C>T	22	29121230	29121230	C	T	CHEK2	c.444+1G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121230C>T	(Likely) pathogenic	6 labs	46bd9526e9
5:45695972 HCN1 TCGCCGCCGC>T	5	45695972	45695994	TCGCCGCCGC	T	HCN1	c.215_223del	NM_021072.4	NP_066550.2:p.(Gly72_Gly74del)	NC_000005.9:g.45695986_45695994del	(Likely) benign	4 labs	46ca97352d
2:179460214 TTN AT>A	2	179460214	179460227	AT	A	TTN	c.57847+19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460227del	(Likely) benign	5 labs	46cb38c6f6
4:6302707 WFS1 C>T	4	6302707	6302707	C	T	WFS1	c.1185C>T	NM_006005.3	NP_005996.2:p.(Val395=)	NC_000004.11:g.6302707C>T	(Likely) benign	3 labs	46cf361ca5
X:69249377 EDA C>T	X	69249377	69249377	C	T	EDA	c.730C>T	NM_001399.5	NP_001390.1:p.(Arg244Ter)	NC_000023.10:g.69249377C>T	(Likely) pathogenic	2 labs	40e503f8cb
2:179526524 TTN G>A	2	179526524	179526524	G	A	TTN	c.37247C>T	NM_001267550.2	NP_001254479.2:p.(Ser12416Leu)	NC_000002.11:g.179526524G>A	(Likely) benign	5 labs	46d8ea08ed
3:37090456 MLH1 A>G	3	37090456	37090456	A	G	MLH1	c.2051A>G	NM_000249.4	NP_000240.1:p.(Tyr684Cys)	NC_000003.11:g.37090456A>G	VUS	2 labs	46dc33022c
14:23870053 MYH6 G>A	14	23870053	23870053	G	A	MYH6	c.1275C>T	NM_002471.4	NP_002462.2:p.(Ile425=)	NC_000014.8:g.23870053G>A	(Likely) benign	5 labs	46e0fb2fbf
2:71795152 DYSF A>T	2	71795152	71795152	A	T	DYSF	c.2634A>T	NM_001130981.2	NP_001124453.1:p.(Ser878=)	NC_000002.11:g.71795152A>T	(Likely) benign	3 labs	46ecd36af4
6:152621819 SYNE1 C>A	6	152621819	152621819	C	A	SYNE1	c.17426G>T	NM_033071.4	NP_149062.2:p.(Arg5809Leu)	NC_000006.11:g.152621819C>A	VUS	2 labs	410f3778dd
12:6128443 VWF T>C	12	6128443	6128443	T	C	VWF	c.4141A>G	NM_000552.5	NP_000543.3:p.(Thr1381Ala)	NC_000012.11:g.6128443T>C	(Likely) benign	2 labs	411915bd3e
21:47777063 PCNT G>A	21	47777063	47777063	G	A	PCNT	c.2111G>A	NM_006031.6	NP_006022.3:p.(Gly704Glu)	NC_000021.8:g.47777063G>A	(Likely) benign	2 labs	4713a3a519
2:220283350 DES G>C	2	220283350	220283350	G	C	DES	c.166G>C	NM_001927.4	NP_001918.3:p.(Val56Leu)	NC_000002.11:g.220283350G>C	VUS	2 labs	4714db6b3b
9:140772549 CACNA1B C>CCATGGCGCTGTACAACCCCAT	9	140772549	140772571	C	CCATGGCGCTGTACAACCCCAT	CACNA1B	c.166_186dup	NM_000718.4	NP_000709.1:p.(Met56_Ile62dup)	NC_000009.11:g.140772551_140772571dup	(Likely) benign	2 labs	471701738b
2:136561557 LCT G>A	2	136561557	136561557	G	A	LCT	c.4606C>T	NM_002299.4	NP_002290.2:p.(Leu1536=)	NC_000002.11:g.136561557G>A	(Likely) benign	2 labs	41226031f4
17:41256184 BRCA1 G>T	17	41256184	41256184	G	T	BRCA1	c.396C>A	NM_007294.4	NP_009225.1:p.(Asn132Lys)	NC_000017.10:g.41256184G>T	(Likely) benign	5 labs	472035f168
1:9787030 PIK3CD G>A	1	9787030	9787030	G	A	PIK3CD	c.3061G>A	NM_005026.5	NP_005017.3:p.(Glu1021Lys)	NC_000001.10:g.9787030G>A	(Likely) pathogenic	5 labs	4724d28c6a
2:179473201 TTN G>T	2	179473201	179473201	G	T	TTN	c.52409C>A	NM_001267550.2	NP_001254479.2:p.(Pro17470Gln)	NC_000002.11:g.179473201G>T	VUS	4 labs	4738576958
9:79931219 VPS13A A>G	9	79931219	79931219	A	G	VPS13A	c.4760A>G	NM_033305.3	NP_150648.2:p.(Tyr1587Cys)	NC_000009.11:g.79931219A>G	(Likely) benign	3 labs	473c1372fb
5:121406218 LOX C>T	5	121406218	121406218	C	T	LOX	c.1102G>A	NM_002317.7	NP_002308.2:p.(Asp368Asn)	NC_000005.9:g.121406218C>T	VUS	2 labs	473e70178a
2:128186178 PROC C>T	2	128186178	128186178	C	T	PROC	c.1042C>T	NM_000312.4	NP_000303.1:p.(Arg348Ter)	NC_000002.11:g.128186178C>T	(Likely) pathogenic	2 labs	417d7696d6
6:51618170 PKHD1 T>G	6	51618170	51618170	T	G	PKHD1	c.8798-19A>C	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51618170T>G	(Likely) benign	2 labs	417f5d869b
5:149901150 NDST1 C>T	5	149901150	149901150	C	T	NDST1	c.334C>T	NM_001543.5	NP_001534.1:p.(Arg112Cys)	NC_000005.9:g.149901150C>T	VUS	2 labs	4191ffac53
2:189863389 COL3A1 C>T	2	189863389	189863389	C	T	COL3A1	c.1978-11C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863389C>T	(Likely) benign	3 labs	474a671921
2:109384800 RANBP2 C>T	2	109384800	109384800	C	T	RANBP2	c.7805C>T	NM_006267.5	NP_006258.3:p.(Thr2602Met)	NC_000002.11:g.109384800C>T	(Likely) benign	3 labs	47541e378d
17:61805747 STRADA G>A	17	61805747	61805747	G	A	STRADA	c.-18C>T	NM_153335.6	NP_699166.2:p.?	NC_000017.10:g.61805747G>A	(Likely) benign	2 labs	4757a38aa9
4:6303947 WFS1 G>A	4	6303947	6303947	G	A	WFS1	c.2425G>A	NM_006005.3	NP_005996.2:p.(Glu809Lys)	NC_000004.11:g.6303947G>A	(Likely) pathogenic	2 labs	41a29f638a
11:17553105 USH1C G>A	11	17553105	17553105	G	A	USH1C	c.105-16C>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17553105G>A	(Likely) benign	2 labs	41b8e9ec5d
1:237824177 RYR2 T>C	1	237824177	237824177	T	C	RYR2	c.8366T>C	NM_001035.3	NP_001026.2:p.(Ile2789Thr)	NC_000001.10:g.237824177T>C	VUS	2 labs	41c04d49e2
4:996248 IDUA G>C	4	996248	996248	G	C	IDUA	c.1164G>C	NM_000203.5	NP_000194.2:p.(Thr388=)	NC_000004.11:g.996248G>C	(Likely) benign	4 labs	476dca916b
1:45797201 MUTYH G>A	1	45797201	45797201	G	A	MUTYH	c.1214C>T	NM_001128425.2	NP_001121897.1:p.(Pro405Leu)	NC_000001.10:g.45797201G>A	(Likely) pathogenic	5 labs	477084d9d6
12:110011229 MMAB G>T	12	110011229	110011229	G	T	MMAB	c.57C>A	NM_052845.4	NP_443077.1:p.(Arg19=)	NC_000012.11:g.110011229G>T	(Likely) benign	3 labs	d9e02a35e2
3:37090086 MLH1 C>T	3	37090086	37090086	C	T	MLH1	c.1975C>T	NM_000249.4	NP_000240.1:p.(Arg659Ter)	NC_000003.11:g.37090086C>T	(Likely) pathogenic	2 labs	41d7aec825
11:93517874 MED17 C>G	11	93517874	93517874	C	G	MED17	c.195C>G	NM_004268.5	NP_004259.3:p.(Gly65=)	NC_000011.9:g.93517874C>G	(Likely) benign	3 labs	477bc21d46
14:75473412 EIF2B2 C>T	14	75473412	75473412	C	T	EIF2B2	c.826C>T	NM_014239.4	NP_055054.1:p.(Pro276Ser)	NC_000014.8:g.75473412C>T	VUS	2 labs	41f4b87835
20:42788779 JPH2 C>T	20	42788779	42788779	C	T	JPH2	c.648G>A	NM_020433.5	NP_065166.2:p.(Lys216=)	NC_000020.10:g.42788779C>T	(Likely) benign	5 labs	478a6b623e
X:85233847 CHM G>A	X	85233847	85233847	G	A	CHM	c.238C>T	NM_000390.4	NP_000381.1:p.(Leu80Phe)	NC_000023.10:g.85233847G>A	(Likely) benign	2 labs	421dc355a3
6:33140094 COL11A2 G>A	6	33140094	33140094	G	A	COL11A2	c.2960C>T	NM_080680.3	NP_542411.2:p.(Pro987Leu)	NC_000006.11:g.33140094G>A	VUS	2 labs	421e74cd84
1:55523033 PCSK9 A>G	1	55523033	55523033	A	G	PCSK9	c.1026A>G	NM_174936.4	NP_777596.2:p.(Gln342=)	NC_000001.10:g.55523033A>G	(Likely) benign	2 labs	42244dbf8d
6:75862112 COL12A1 C>T	6	75862112	75862112	C	T	COL12A1	c.3652G>A	NM_004370.6	NP_004361.3:p.(Val1218Met)	NC_000006.11:g.75862112C>T	(Likely) benign	2 labs	47a96cd997
22:22161974 MAPK1 G>A	22	22161974	22161974	G	A	MAPK1	c.281C>T	NM_002745.5	NP_002736.3:p.(Thr94Ile)	NC_000022.10:g.22161974G>A	VUS	2 labs	47b0f66cd1
14:23855349 MYH6 C>T	14	23855349	23855349	C	T	MYH6	c.4960-9G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855349C>T	(Likely) benign	3 labs	47b31c6714
12:38715000 ALG10B A>G	12	38715000	38715000	A	G	ALG10B	c.1407A>G	NM_001013620.4	NP_001013642.2:p.(Gln469=)	NC_000012.11:g.38715000A>G	(Likely) benign	2 labs	47b721210c
22:29091113 CHEK2 A>C	22	29091113	29091113	A	C	CHEK2	c.1375+2T>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091113A>C	(Likely) pathogenic	3 labs	47b80e4bd4
19:42474692 ATP1A3 G>A	19	42474692	42474692	G	A	ATP1A3	c.2305C>T	NM_001256214.2	NP_001243143.1:p.(Arg769Cys)	NC_000019.9:g.42474692G>A	(Likely) pathogenic	2 labs	4248686f6e
19:11224181 LDLR C>T	19	11224181	11224181	C	T	LDLR	c.1359-30C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224181C>T	(Likely) benign	2 labs	425f5bad1f
8:30999123 WRN G>A	8	30999123	30999123	G	A	WRN	c.3138+7G>A	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30999123G>A	(Likely) benign	2 labs	47c1ac0c27
14:23888502 MYH7 C>T	14	23888502	23888502	C	T	MYH7	c.3856G>A	NM_000257.4	NP_000248.2:p.(Glu1286Lys)	NC_000014.8:g.23888502C>T	VUS	2 labs	47c9e8cc53
2:145187494 ZEB2 T>C	2	145187494	145187494	T	C	ZEB2	c.173A>G	NM_014795.4	NP_055610.1:p.(Gln58Arg)	NC_000002.11:g.145187494T>C	VUS	2 labs	4274bd09a5
15:89392915 ACAN C>T	15	89392915	89392915	C	T	ACAN	c.1979C>T	NM_013227.4	NP_037359.3:p.(Thr660Met)	NC_000015.9:g.89392915C>T	VUS	2 labs	4274fcacbd
19:38976730 RYR1 T>C	19	38976730	38976730	T	C	RYR1	c.5435T>C	NM_000540.3	NP_000531.2:p.(Leu1812Pro)	NC_000019.9:g.38976730T>C	VUS	3 labs	42994504f8
7:56087319 PSPH T>G	7	56087319	56087319	T	G	PSPH	c.249A>C	NM_004577.4	NP_004568.2:p.(Gln83His)	NC_000007.13:g.56087319T>G	(Likely) benign	2 labs	42b725b0e0
12:133202789 POLE G>A	12	133202789	133202789	G	A	POLE	c.6445C>T	NM_006231.4	NP_006222.2:p.(Arg2149Cys)	NC_000012.11:g.133202789G>A	VUS	2 labs	47e1b8accf
21:47773080 PCNT C>G	21	47773080	47773080	C	G	PCNT	c.1519C>G	NM_006031.6	NP_006022.3:p.(Arg507Gly)	NC_000021.8:g.47773080C>G	(Likely) benign	2 labs	47ee394060
9:139401363 NOTCH1 G>A	9	139401363	139401363	G	A	NOTCH1	c.3706C>T	NM_017617.5	NP_060087.3:p.(Pro1236Ser)	NC_000009.11:g.139401363G>A	VUS	2 labs	42ae42e2c0
1:201330501 TNNT2 C>A	1	201330501	201330501	C	A	TNNT2	c.690-4G>T	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201330501C>A	(Likely) benign	2 labs	47f4028d20
3:38603996 SCN5A C>T	3	38603996	38603996	C	T	SCN5A	c.3873G>A	NM_001099404.2	NP_001092874.1:p.(Leu1291=)	NC_000003.11:g.38603996C>T	(Likely) benign	5 labs	47fc06fe2f
22:50658053 TUBGCP6 A>G	22	50658053	50658053	A	G	TUBGCP6	c.4315+20T>C	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50658053A>G	(Likely) benign	2 labs	4801356205
11:68192578 LRP5 A>G	11	68192578	68192578	A	G	LRP5	c.3245A>G	NM_002335.4	NP_002326.2:p.(Tyr1082Cys)	NC_000011.9:g.68192578A>G	VUS	3 labs	4801f528ab
12:88505078 CEP290 T>C	12	88505078	88505078	T	C	CEP290	c.2268A>G	NM_025114.4	NP_079390.3:p.(Ser756=)	NC_000012.11:g.88505078T>C	(Likely) benign	2 labs	480ce90015
10:64573771 EGR2 C>T	10	64573771	64573771	C	T	EGR2	c.627=	NM_000399.5	NP_000390.2:p.(Pro209=)	NC_000010.10:g.64573771C>T	(Likely) benign	2 labs	480d8b56e0
7:151933009 KMT2C A>T	7	151933009	151933009	A	T	KMT2C	c.2662T>A	NM_170606.3	NP_733751.2:p.(Ser888Thr)	NC_000007.13:g.151933009A>T	(Likely) benign	2 labs	42d65a2990
11:47356558 MYBPC3 T>C	11	47356558	47356558	T	C	MYBPC3	c.2905+35A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356558T>C	(Likely) benign	2 labs	480fa95085
2:179639711 TTN C>A	2	179639711	179639711	C	A	TTN	c.6727G>T	NM_001267550.2	NP_001254479.2:p.(Asp2243Tyr)	NC_000002.11:g.179639711C>A	(Likely) benign	4 labs	4811a3d690
2:15614404 NBAS T>C	2	15614404	15614404	T	C	NBAS	c.1386A>G	NM_015909.4	NP_056993.2:p.(Arg462=)	NC_000002.11:g.15614404T>C	(Likely) benign	2 labs	481a89387e
6:33138955 COL11A2 G>A	6	33138955	33138955	G	A	COL11A2	c.3313-11C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33138955G>A	(Likely) benign	4 labs	481c34caa5
16:89167395 ACSF3 C>T	16	89167395	89167395	C	T	ACSF3	c.306C>T	NM_001243279.3	NP_001230208.1:p.(Cys102=)	NC_000016.9:g.89167395C>T	(Likely) benign	2 labs	42e939827c
8:61778455 CHD7 G>A	8	61778455	61778455	G	A	CHD7	c.8957G>A	NM_017780.4	NP_060250.2:p.(Gly2986Glu)	NC_000008.10:g.61778455G>A	VUS	2 labs	42fca27a76
X:70341169 MED12 A>C	X	70341169	70341169	A	C	MED12	c.736-8A>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70341169A>C	(Likely) benign	2 labs	431bca4101
2:179637835 TTN C>A	2	179637835	179637835	C	A	TTN	c.7855+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179637835C>A	(Likely) pathogenic	4 labs	48527a3d92
2:179476116 TTN A>G	2	179476116	179476116	A	G	TTN	c.50840T>C	NM_001267550.2	NP_001254479.2:p.(Val16947Ala)	NC_000002.11:g.179476116A>G	VUS	2 labs	48546a43f2
5:177422908 PROP1 A>G	5	177422908	177422908	A	G	PROP1	c.27T>C	NM_006261.5	NP_006252.4:p.(Ala9=)	NC_000005.9:g.177422908A>G	(Likely) benign	2 labs	4855170e6d
X:153217563 HCFC1 AGTCACG>A	X	153217563	153217571	AGTCACG	A	HCFC1	c.4983_4988del	NM_005334.3	NP_005325.2:p.(Val1662_Thr1663del)	NC_000023.10:g.153217566_153217571del	VUS	3 labs	485788a611
11:108121752 ATM CAG>C	11	108121752	108121757	CAG	C	ATM	c.1564_1565del	NM_000051.4	NP_000042.3:p.(Glu522IlefsTer43)	NC_000011.9:g.108121756_108121757del	(Likely) pathogenic	5 labs	486156dbec
4:187122355 CYP4V2 T>C	4	187122355	187122355	T	C	CYP4V2	c.846T>C	NM_207352.4	NP_997235.3:p.(Cys282=)	NC_000004.11:g.187122355T>C	(Likely) benign	2 labs	433ee55c22
X:19372615 PDHA1 C>G	X	19372615	19372615	C	G	PDHA1	c.517C>G	NM_000284.4	NP_000275.1:p.(Leu173Val)	NC_000023.10:g.19372615C>G	VUS	2 labs	486d340d98
3:178922370 PIK3CA A>G	3	178922370	178922370	A	G	PIK3CA	c.1139A>G	NM_006218.4	NP_006209.2:p.(Asn380Ser)	NC_000003.11:g.178922370A>G	VUS	2 labs	486d997b36
17:59560384 TBX4 A>C	17	59560384	59560384	A	C	TBX4	c.1145A>C	NM_018488.3	NP_060958.2:p.(Tyr382Ser)	NC_000017.10:g.59560384A>C	VUS	2 labs	487c0ecd6c
14:23858268 MYH6 GGGA>G	14	23858268	23858273	GGGA	G	MYH6	c.3979-7_3979-5del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271_23858273del	(Likely) benign	5 labs	487ca401d6
1:201012597 CACNA1S G>A	1	201012597	201012597	G	A	CACNA1S	c.4860C>T	NM_000069.3	NP_000060.2:p.(Pro1620=)	NC_000001.10:g.201012597G>A	(Likely) benign	2 labs	487df9efad
4:155507590 FGA T>C	4	155507590	155507590	T	C	FGA	c.991A>G	NM_000508.5	NP_000499.1:p.(Thr331Ala)	NC_000004.11:g.155507590T>C	(Likely) benign	2 labs	437efea88d
10:69926319 MYPN C>A	10	69926319	69926319	C	A	MYPN	c.1869C>A	NM_032578.4	NP_115967.2:p.(Thr623=)	NC_000010.10:g.69926319C>A	(Likely) benign	3 labs	4881c3bb0d
4:114274519 ANK2 G>A	4	114274519	114274519	G	A	ANK2	c.4745G>A	NM_001148.6	NP_001139.3:p.(Arg1582Gln)	NC_000004.11:g.114274519G>A	(Likely) benign	5 labs	488951ce6e
X:105279119 SERPINA7 G>A	X	105279119	105279119	G	A	SERPINA7	c.880C>T	NM_000354.6	NP_000345.2:p.(Arg294Cys)	NC_000023.10:g.105279119G>A	VUS	2 labs	488d48448f
7:92761483 SAMD9L A>G	7	92761483	92761483	A	G	SAMD9L	c.3802T>C	NM_152703.5	NP_689916.2:p.(Phe1268Leu)	NC_000007.13:g.92761483A>G	VUS	2 labs	48954af9cb
X:53253992 KDM5C G>A	X	53253992	53253992	G	A	KDM5C	c.80C>T	NM_004187.5	NP_004178.2:p.(Pro27Leu)	NC_000023.10:g.53253992G>A	VUS	2 labs	43b11163c5
15:85384099 ALPK3 G>A	15	85384099	85384099	G	A	ALPK3	c.1589G>A	NM_020778.5	NP_065829.4:p.(Arg530Gln)	NC_000015.9:g.85384099G>A	VUS	2 labs	43c17ccc5c
12:111351029 MYL2 TC>T	12	111351029	111351034	TC	T	MYL2	c.353+20del	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351034del	(Likely) benign	5 labs	48b232829f
17:41256898 BRCA1 G>A	17	41256898	41256898	G	A	BRCA1	c.288C>T	NM_007294.4	NP_009225.1:p.(Asp96=)	NC_000017.10:g.41256898G>A	(Likely) benign	5 labs	48b9ce708a
1:3322049 PRDM16 G>A	1	3322049	3322049	G	A	PRDM16	c.1033-10G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3322049G>A	(Likely) benign	4 labs	48bf1a6455
1:213061362 FLVCR1 T>A	1	213061362	213061362	T	A	FLVCR1	c.1307+19T>A	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213061362T>A	(Likely) benign	4 labs	48bfc3ef9f
12:31244669 DDX11 A>G	12	31244669	31244669	A	G	DDX11	c.1106A>G	NM_030653.4	NP_085911.2:p.(Tyr369Cys)	NC_000012.11:g.31244669A>G	VUS	2 labs	4415f153f2
18:28649042 DSC2 T>C	18	28649042	28649042	T	C	DSC2	c.2326A>G	NM_004949.5	NP_004940.1:p.(Ile776Val)	NC_000018.9:g.28649042T>C	(Likely) benign	5 labs	48cf256e0a
19:42364912 RPS19 A>G	19	42364912	42364912	A	G	RPS19	c.68A>G	NM_001022.4	NP_001013.1:p.(Lys23Arg)	NC_000019.9:g.42364912A>G	(Likely) benign	2 labs	4437c4c396
6:7585411 DSP G>A	6	7585411	7585411	G	A	DSP	c.7916G>A	NM_004415.4	NP_004406.2:p.(Arg2639Gln)	NC_000006.11:g.7585411G>A	(Likely) benign	3 labs	48e73eff04
20:30408293 MYLK2 C>T	20	30408293	30408293	C	T	MYLK2	c.417C>T	NM_033118.4	NP_149109.1:p.(Ala139=)	NC_000020.10:g.30408293C>T	(Likely) benign	3 labs	48f6222525
10:75849898 VCL C>T	10	75849898	75849898	C	T	VCL	c.1294C>T	NM_014000.3	NP_054706.1:p.(Leu432=)	NC_000010.10:g.75849898C>T	(Likely) benign	4 labs	48f6a8a2e4
18:25572808 CDH2 C>T	18	25572808	25572808	C	T	CDH2	c.1159-4G>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25572808C>T	(Likely) benign	2 labs	48f8430c00
2:21224853 APOB C>T	2	21224853	21224853	C	T	APOB	c.13441G>A	NM_000384.3	NP_000375.3:p.(Ala4481Thr)	NC_000002.11:g.21224853C>T	(Likely) benign	2 labs	444cbb7794
17:73753266 ITGB4 A>T	17	73753266	73753266	A	T	ITGB4	c.5219-15A>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73753266A>T	(Likely) benign	2 labs	4903d84632
2:179539032 TTN C>A	2	179539032	179539032	C	A	TTN	c.34708+9G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179539032C>A	(Likely) benign	2 labs	49153fe13b
14:23874050 MYH6 A>T	14	23874050	23874050	A	T	MYH6	c.531-19T>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23874050A>T	(Likely) benign	2 labs	491bbce459
16:14647996 PARN C>T	16	14647996	14647996	C	T	PARN	c.1331G>A	NM_002582.4	NP_002573.1:p.(Arg444His)	NC_000016.9:g.14647996C>T	VUS	2 labs	44793a03a7
13:32931992 BRCA2 A>C	13	32931992	32931992	A	C	BRCA2	c.7731A>C	NM_000059.4	NP_000050.3:p.(Lys2577Asn)	NC_000013.10:g.32931992A>C	(Likely) benign	2 labs	44926eee9e
3:58112440 FLNB A>G	3	58112440	58112440	A	G	FLNB	c.4173A>G	NM_001164317.2	NP_001157789.1:p.(Ala1391=)	NC_000003.11:g.58112440A>G	(Likely) benign	2 labs	4932a6304e
2:1481219 TPO A>ACGGC	2	1481219	1481225	A	ACGGC	TPO	c.1184_1187dup	NM_000547.6	NP_000538.3:p.(Ala397ProfsTer76)	NC_000002.11:g.1481222_1481225dup	(Likely) pathogenic	4 labs	493f613f91
1:103352451 COL11A1 A>G	1	103352451	103352451	A	G	COL11A1	c.4806T>C	NM_080629.3	NP_542196.2:p.(Ile1602=)	NC_000001.10:g.103352451A>G	(Likely) benign	2 labs	4944269d1a
5:37020896 NIPBL G>A	5	37020896	37020896	G	A	NIPBL	c.5245G>A	NM_133433.4	NP_597677.2:p.(Asp1749Asn)	NC_000005.9:g.37020896G>A	VUS	2 labs	4947aab007
2:179401870 TTN C>A	2	179401870	179401870	C	A	TTN	c.99966G>T	NM_001267550.2	NP_001254479.2:p.(Trp33322Cys)	NC_000002.11:g.179401870C>A	VUS	3 labs	4954f37e7a
5:37001074 NIPBL A>G	5	37001074	37001074	A	G	NIPBL	c.3575-17A>G	NM_015384.5	NP_056199.2:p.?	NC_000005.9:g.37001074A>G	(Likely) benign	2 labs	44c67d2b3a
8:102678798 GRHL2 C>T	8	102678798	102678798	C	T	GRHL2	c.1764-19C>T	NM_024915.4	NP_079191.2:p.?	NC_000008.10:g.102678798C>T	(Likely) benign	2 labs	44e5f40a5c
16:57016092 CETP G>A	16	57016092	57016092	G	A	CETP	c.1264G>A	NM_000078.3	NP_000069.2:p.(Val422Ile)	NC_000016.9:g.57016092G>A	(Likely) benign	2 labs	49616d8f88
1:17350475 SDHB A>T	1	17350475	17350475	A	T	SDHB	c.635T>A	NM_003000.3	NP_002991.2:p.(Leu212His)	NC_000001.10:g.17350475A>T	VUS	2 labs	4966600ac8
12:22017410 ABCC9 C>T	12	22017410	22017410	C	T	ABCC9	c.2200G>A	NM_020297.4	NP_064693.2:p.(Val734Ile)	NC_000012.11:g.22017410C>T	(Likely) benign	5 labs	4968245f95
9:21974780 CDKN2A A>C	9	21974780	21974780	A	C	CDKN2A	c.47T>G	NM_000077.5	NP_000068.1:p.(Leu16Arg)	NC_000009.11:g.21974780A>C	(Likely) pathogenic	2 labs	450d079f9d
2:228128540 COL4A3 C>T	2	228128540	228128540	C	T	COL4A3	c.1195C>T	NM_000091.5	NP_000082.2:p.(Leu399=)	NC_000002.11:g.228128540C>T	(Likely) benign	2 labs	451aa9a52a
15:44943757 SPG11 A>G	15	44943757	44943757	A	G	SPG11	c.1388T>C	NM_025137.4	NP_079413.3:p.(Phe463Ser)	NC_000015.9:g.44943757A>G	(Likely) benign	3 labs	496c7f5ade
19:15292437 NOTCH3 T>C	19	15292437	15292437	T	C	NOTCH3	c.2742A>G	NM_000435.3	NP_000426.2:p.(Pro914=)	NC_000019.9:g.15292437T>C	(Likely) benign	3 labs	496cb56f0e
7:107353019 SLC26A4 A>ATCT	7	107353019	107353021	A	ATCT	SLC26A4	c.2272_2273insCTT	NM_000441.2	NP_000432.1:p.(Glu757_Leu758insSer)	NC_000007.13:g.107353020_107353021insCTT	VUS	2 labs	4980243abb
2:179397979 TTN G>A	2	179397979	179397979	G	A	TTN	c.103363C>T	NM_001267550.2	NP_001254479.2:p.(Arg34455Cys)	NC_000002.11:g.179397979G>A	(Likely) benign	3 labs	49920c1a17
2:48027239 MSH6 T>C	2	48027239	48027239	T	C	MSH6	c.2117T>C	NM_000179.3	NP_000170.1:p.(Phe706Ser)	NC_000002.11:g.48027239T>C	(Likely) pathogenic	2 labs	452a49bba6
8:94777876 TMEM67 T>G	8	94777876	94777876	T	G	TMEM67	c.651+2T>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94777876T>G	(Likely) pathogenic	3 labs	49c91b166c
9:36966688 PAX5 G>A	9	36966688	36966688	G	A	PAX5	c.638C>T	NM_016734.3	NP_057953.1:p.(Ser213Leu)	NC_000009.11:g.36966688G>A	VUS	2 labs	49db4178b8
10:135179555 ECHS1 C>T	10	135179555	135179555	C	T	ECHS1	c.664G>A	NM_004092.4	NP_004083.3:p.(Ala222Thr)	NC_000010.10:g.135179555C>T	VUS	2 labs	49e58abe0b
11:47360110 MYBPC3 C>T	11	47360110	47360110	C	T	MYBPC3	c.2269G>A	NM_000256.3	NP_000247.2:p.(Val757Met)	NC_000011.9:g.47360110C>T	VUS	2 labs	49ec900262
17:18060523 MYO15A C>T	17	18060523	18060523	C	T	MYO15A	c.8767C>T	NM_016239.4	NP_057323.3:p.(Arg2923Ter)	NC_000017.10:g.18060523C>T	(Likely) pathogenic	2 labs	45606adac4
19:8468401 RAB11B G>A	19	8468401	8468401	G	A	RAB11B	c.616G>A	NM_004218.4	NP_004209.2:p.(Gly206Arg)	NC_000019.9:g.8468401G>A	(Likely) benign	2 labs	4576a72e4a
15:85399657 ALPK3 T>G	15	85399657	85399657	T	G	ALPK3	c.1688T>G	NM_020778.5	NP_065829.4:p.(Met563Arg)	NC_000015.9:g.85399657T>G	VUS	3 labs	49fcb7706f
19:16606910 CALR3 T>G	19	16606910	16606910	T	G	CALR3	c.31A>C	NM_145046.5	NP_659483.2:p.(Ile11Leu)	NC_000019.9:g.16606910T>G	VUS	2 labs	4a01a941bf
14:23853779 MYH6 G>C	14	23853779	23853779	G	C	MYH6	c.5437C>G	NM_002471.4	NP_002462.2:p.(Gln1813Glu)	NC_000014.8:g.23853779G>C	VUS	3 labs	4a0cf8ce18
14:29237808 FOXG1 C>T	14	29237808	29237808	C	T	FOXG1	c.1323C>T	NM_005249.5	NP_005240.3:p.(Ser441=)	NC_000014.8:g.29237808C>T	(Likely) benign	4 labs	4a15dfd0a3
22:50502469 MLC1 A>G	22	50502469	50502469	A	G	MLC1	c.1053T>C	NM_015166.4	NP_055981.1:p.(Ala351=)	NC_000022.10:g.50502469A>G	(Likely) benign	2 labs	4a1f3bf523
6:146720550 GRM1 A>G	6	146720550	146720550	A	G	GRM1	c.2375A>G	NM_001278065.2	NP_001264994.1:p.(Tyr792Cys)	NC_000006.11:g.146720550A>G	VUS	2 labs	45d904f5a2
14:23885350 MYH7 G>A	14	23885350	23885350	G	A	MYH7	c.4816C>T	NM_000257.4	NP_000248.2:p.(Arg1606Cys)	NC_000014.8:g.23885350G>A	VUS	3 labs	4a25461128
14:51058234 ATL1 G>T	14	51058234	51058234	G	T	ATL1	c.418-19G>T	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51058234G>T	(Likely) benign	3 labs	4a2b7bdaef
3:14177324 TMEM43 G>A	3	14177324	14177324	G	A	TMEM43	c.798G>A	NM_024334.3	NP_077310.1:p.(Arg266=)	NC_000003.11:g.14177324G>A	(Likely) benign	5 labs	4a31709797
16:30724070 SRCAP G>T	16	30724070	30724070	G	T	SRCAP	c.2064G>T	NM_006662.3	NP_006653.2:p.(Arg688=)	NC_000016.9:g.30724070G>T	(Likely) benign	2 labs	4a31e54b11
3:37042494 MLH1 C>T	3	37042494	37042494	C	T	MLH1	c.256C>T	NM_000249.4	NP_000240.1:p.(Gln86Ter)	NC_000003.11:g.37042494C>T	(Likely) pathogenic	2 labs	45f7668e33
20:746098 SLC52A3 G>A	20	746098	746098	G	A	SLC52A3	c.321C>T	NM_033409.4	NP_212134.3:p.(Ala107=)	NC_000020.10:g.746098G>A	(Likely) benign	2 labs	4607478691
1:78408482 NEXN A>G	1	78408482	78408482	A	G	NEXN	c.1996A>G	NM_144573.4	NP_653174.3:p.(Thr666Ala)	NC_000001.10:g.78408482A>G	VUS	2 labs	4a3ec7b2f8
19:11222300 LDLR G>A	19	11222300	11222300	G	A	LDLR	c.1171G>A	NM_000527.5	NP_000518.1:p.(Ala391Thr)	NC_000019.9:g.11222300G>A	(Likely) benign	2 labs	4a47ab0b53
2:179485269 TTN G>A	2	179485269	179485269	G	A	TTN	c.45979C>T	NM_001267550.2	NP_001254479.2:p.(Arg15327Cys)	NC_000002.11:g.179485269G>A	VUS	3 labs	4a524b2620
2:242690726 D2HGDH G>A	2	242690726	242690726	G	A	D2HGDH	c.1063G>A	NM_152783.5	NP_689996.4:p.(Gly355Ser)	NC_000002.11:g.242690726G>A	(Likely) benign	2 labs	4633c0245a
3:111356083 CD96 G>C	3	111356083	111356083	G	C	CD96	c.1410G>C	NM_198196.3	NP_937839.1:p.(Pro470=)	NC_000003.11:g.111356083G>C	(Likely) benign	2 labs	464d1efa0b
15:63353950 TPM1 C>T	15	63353950	63353950	C	T	TPM1	c.602C>T	NM_001018004.2	NP_001018004.1:p.(Thr201Met)	NC_000015.9:g.63353950C>T	(Likely) pathogenic	2 labs	4a5c6f98bb
16:88497446 ZNF469 A>G	16	88497446	88497446	A	G	ZNF469	c.3568A>G	NM_001367624.2	NP_001354553.1:p.(Lys1190Glu)	NC_000016.9:g.88497446A>G	(Likely) benign	3 labs	4a60f41f39
2:44508595 SLC3A1 G>A	2	44508595	44508595	G	A	SLC3A1	c.680G>A	NM_000341.4	NP_000332.2:p.(Arg227Gln)	NC_000002.11:g.44508595G>A	VUS	2 labs	463e15293e
8:144998707 PLEC C>T	8	144998707	144998707	C	T	PLEC	c.5471G>A	NM_000445.5	NP_000436.2:p.(Arg1824His)	NC_000008.10:g.144998707C>T	VUS	2 labs	46552def22
17:48252804 SGCA T>C	17	48252804	48252804	T	C	SGCA	c.*6T>C	NM_000023.4	NP_000014.1:p.?	NC_000017.10:g.48252804T>C	(Likely) benign	2 labs	4a70c9f474
2:1891370 MYT1L C>T	2	1891370	1891370	C	T	MYT1L	c.2532G>A	NM_001303052.2	NP_001289981.1:p.(Leu844=)	NC_000002.11:g.1891370C>T	(Likely) benign	2 labs	4a76cb67d1
3:71834120 PROK2 G>C	3	71834120	71834120	G	C	PROK2	c.84C>G	NM_001126128.2	NP_001119600.1:p.(Ala28=)	NC_000003.11:g.71834120G>C	(Likely) benign	2 labs	4a7af8b38d
X:13786819 OFD1 C>T	X	13786819	13786819	C	T	OFD1	c.2929-18C>T	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13786819C>T	(Likely) benign	4 labs	4a7e9100f9
1:66038009 LEPR A>G	1	66038009	66038009	A	G	LEPR	c.371A>G	NM_002303.6	NP_002294.2:p.(Asp124Gly)	NC_000001.10:g.66038009A>G	(Likely) benign	2 labs	4a84a4597f
1:228437717 OBSCN C>T	1	228437717	228437717	C	T	OBSCN	c.4085C>T	NM_052843.4	NP_443075.3:p.(Ala1362Val)	NC_000001.10:g.228437717C>T	VUS	2 labs	4a8826652f
2:189871128 COL3A1 C>A	2	189871128	189871128	C	A	COL3A1	c.3151C>A	NM_000090.4	NP_000081.2:p.(Pro1051Thr)	NC_000002.11:g.189871128C>A	VUS	2 labs	4a9218d542
15:67457615 SMAD3 G>A	15	67457615	67457615	G	A	SMAD3	c.425G>A	NM_005902.4	NP_005893.1:p.(Arg142His)	NC_000015.9:g.67457615G>A	VUS	2 labs	4a9c8ad440
22:50682865 TUBGCP6 G>A	22	50682865	50682865	G	A	TUBGCP6	c.24C>T	NM_020461.4	NP_065194.3:p.(Phe8=)	NC_000022.10:g.50682865G>A	(Likely) benign	2 labs	4aa36b62cb
2:179485878 TTN G>A	2	179485878	179485878	G	A	TTN	c.45567C>T	NM_001267550.2	NP_001254479.2:p.(Tyr15189=)	NC_000002.11:g.179485878G>A	(Likely) benign	2 labs	4ab022e8da
6:129722425 LAMA2 G>A	6	129722425	129722425	G	A	LAMA2	c.5502G>A	NM_000426.4	NP_000417.3:p.(Glu1834=)	NC_000006.11:g.129722425G>A	(Likely) benign	3 labs	46967dddef
1:74808848 TNNI3K A>G	1	74808848	74808848	A	G	TNNI3K	c.917A>G	NM_015978.3	NP_057062.1:p.(Glu306Gly)	NC_000001.10:g.74808848A>G	VUS	2 labs	46b7f47102
7:79833152 GNAI1 AGTAGCTTT>A	7	79833152	79833161	AGTAGCTTT	A	GNAI1	c.590+6_590+13del	NM_002069.6	NP_002060.4:p.?	NC_000007.13:g.79833154_79833161del	(Likely) benign	2 labs	4abfe2d83c
1:201328345 TNNT2 C>T	1	201328345	201328345	C	T	TNNT2	c.860G>A	NM_001001430.3	NP_001001430.1:p.(Trp287Ter)	NC_000001.10:g.201328345C>T	(Likely) pathogenic	3 labs	4ac0eb56a8
13:32900403 BRCA2 C>T	13	32900403	32900403	C	T	BRCA2	c.500C>T	NM_000059.4	NP_000050.3:p.(Thr167Ile)	NC_000013.10:g.32900403C>T	VUS	2 labs	4ac0fb7ce3
12:33031955 PKP2 G>A	12	33031955	33031955	G	A	PKP2	c.235C>T	NM_004572.4	NP_004563.2:p.(Arg79Ter)	NC_000012.11:g.33031955G>A	(Likely) pathogenic	4 labs	4ac38fccc3
2:179452861 TTN A>G	2	179452861	179452861	A	G	TTN	c.63273T>C	NM_001267550.2	NP_001254479.2:p.(Asp21091=)	NC_000002.11:g.179452861A>G	(Likely) benign	5 labs	4ad219f45a
8:87679303 CNGB3 A>C	8	87679303	87679303	A	C	CNGB3	c.702T>G	NM_019098.5	NP_061971.3:p.(Cys234Trp)	NC_000008.10:g.87679303A>C	(Likely) benign	2 labs	46e38fb474
8:143995761 CYP11B2 C>T	8	143995761	143995761	C	T	CYP11B2	c.873G>A	NM_000498.3	NP_000489.3:p.(Ala291=)	NC_000008.10:g.143995761C>T	(Likely) benign	2 labs	46ed4bac57
5:112174286 APC C>T	5	112174286	112174286	C	T	APC	c.2995C>T	NM_000038.6	NP_000029.2:p.(Gln999Ter)	NC_000005.9:g.112174286C>T	(Likely) pathogenic	2 labs	46f176366d
3:47036756 NBEAL2 C>G	3	47036756	47036756	C	G	NBEAL2	c.1531C>G	NM_015175.3	NP_055990.1:p.(Arg511Gly)	NC_000003.11:g.47036756C>G	(Likely) benign	2 labs	46f4d58811
3:123359355 MYLK C>T	3	123359355	123359355	C	T	MYLK	c.4620-4G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123359355C>T	(Likely) benign	3 labs	4ada9ef41e
9:140638461 EHMT1 T>C	9	140638461	140638461	T	C	EHMT1	c.1089T>C	NM_024757.5	NP_079033.4:p.(Gly363=)	NC_000009.11:g.140638461T>C	(Likely) benign	3 labs	47120c1eb1
11:103126259 DYNC2H1 T>C	11	103126259	103126259	T	C	DYNC2H1	c.10343T>C	NM_001080463.2	NP_001073932.1:p.(Leu3448Pro)	NC_000011.9:g.103126259T>C	(Likely) pathogenic	2 labs	47176f4663
13:32968940 BRCA2 A>T	13	32968940	32968940	A	T	BRCA2	c.9371A>T	NM_000059.4	NP_000050.3:p.(Asn3124Ile)	NC_000013.10:g.32968940A>T	(Likely) pathogenic	5 labs	4b27a2ee1c
1:245022092 HNRNPU T>C	1	245022092	245022092	T	C	HNRNPU	c.1169A>G	NM_031844.3	NP_114032.2:p.(Asn390Ser)	NC_000001.10:g.245022092T>C	VUS	2 labs	4763b8241e
11:47357416 MYBPC3 G>A	11	47357416	47357416	G	A	MYBPC3	c.2737+12C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357416G>A	(Likely) benign	5 labs	4b44e1cce8
2:179501194 TTN C>G	2	179501194	179501194	C	G	TTN	c.41260G>C	NM_001267550.2	NP_001254479.2:p.(Gly13754Arg)	NC_000002.11:g.179501194C>G	VUS	2 labs	47994ff1ee
3:48613682 COL7A1 C>T	3	48613682	48613682	C	T	COL7A1	c.5820G>A	NM_000094.4	NP_000085.1:p.(Pro1940=)	NC_000003.11:g.48613682C>T	(Likely) pathogenic	2 labs	47ab36c183
15:80472526 FAH C>T	15	80472526	80472526	C	T	FAH	c.1021C>T	NM_000137.4	NP_000128.1:p.(Arg341Trp)	NC_000015.9:g.80472526C>T	(Likely) benign	3 labs	4b5c090c4f
12:6127943 VWF A>G	12	6127943	6127943	A	G	VWF	c.4641T>C	NM_000552.5	NP_000543.3:p.(Thr1547=)	NC_000012.11:g.6127943A>G	(Likely) benign	2 labs	47d6560d08
12:49359989 WNT10B G>A	12	49359989	49359989	G	A	WNT10B	c.1059C>T	NM_003394.4	NP_003385.2:p.(His353=)	NC_000012.11:g.49359989G>A	(Likely) benign	2 labs	47f0dbaf90
X:149831907 MTM1 A>G	X	149831907	149831907	A	G	MTM1	c.1469A>G	NM_000252.3	NP_000243.1:p.(Lys490Arg)	NC_000023.10:g.149831907A>G	VUS	2 labs	4b6405f87b
X:153760508 G6PD A>G	X	153760508	153760508	A	G	G6PD	c.1455-13T>C	NM_000402.4	NP_000393.4:p.?	NC_000023.10:g.153760508A>G	(Likely) benign	3 labs	4b8318865b
16:23541223 EARS2 G>A	16	23541223	23541223	G	A	EARS2	c.1068-5C>T	NM_001083614.2	NP_001077083.1:p.?	NC_000016.9:g.23541223G>A	(Likely) benign	2 labs	4802edab32
6:152570415 SYNE1 G>A	6	152570415	152570415	G	A	SYNE1	c.19471-18C>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152570415G>A	(Likely) benign	4 labs	4b94e760b9
19:13346499 CACNA1A G>A	19	13346499	13346499	G	A	CACNA1A	c.4999C>T	NM_001127221.2	NP_001120693.1:p.(Arg1667Trp)	NC_000019.9:g.13346499G>A	(Likely) pathogenic	2 labs	4b9d759e30
1:152285984 FLG C>A	1	152285984	152285984	C	A	FLG	c.1378G>T	NM_002016.2	NP_002007.1:p.(Glu460Ter)	NC_000001.10:g.152285984C>A	(Likely) pathogenic	2 labs	4841c5b96b
2:21239364 APOB G>C	2	21239364	21239364	G	C	APOB	c.3279C>G	NM_000384.3	NP_000375.3:p.(Thr1093=)	NC_000002.11:g.21239364G>C	(Likely) benign	2 labs	4bac1a712f
13:32930636 BRCA2 G>A	13	32930636	32930636	G	A	BRCA2	c.7507G>A	NM_000059.4	NP_000050.3:p.(Val2503Ile)	NC_000013.10:g.32930636G>A	(Likely) benign	3 labs	484b0a1922
2:179464117 TTN T>C	2	179464117	179464117	T	C	TTN	c.56403A>G	NM_001267550.2	NP_001254479.2:p.(Gln18801=)	NC_000002.11:g.179464117T>C	(Likely) benign	2 labs	484fb697aa
11:47354463 MYBPC3 A>G	11	47354463	47354463	A	G	MYBPC3	c.3392T>C	NM_000256.3	NP_000247.2:p.(Ile1131Thr)	NC_000011.9:g.47354463A>G	(Likely) benign	5 labs	4be56c2ab5
16:23635357 PALB2 A>G	16	23635357	23635357	A	G	PALB2	c.2807T>C	NM_024675.4	NP_078951.2:p.(Leu936Ser)	NC_000016.9:g.23635357A>G	VUS	2 labs	4bf0457706
12:107113828 RFX4 T>C	12	107113828	107113828	T	C	RFX4	c.1229T>C	NM_213594.3	NP_998759.1:p.(Val410Ala)	NC_000012.11:g.107113828T>C	VUS	2 labs	48ab80d377
3:38598083 SCN5A A>G	3	38598083	38598083	A	G	SCN5A	c.4300-14T>C	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38598083A>G	(Likely) benign	5 labs	4c140b4049
17:59885949 BRIP1 G>A	17	59885949	59885949	G	A	BRIP1	c.797C>T	NM_032043.3	NP_114432.2:p.(Thr266Met)	NC_000017.10:g.59885949G>A	VUS	3 labs	48e6151309
19:35521779 SCN1B G>T	19	35521779	35521779	G	T	SCN1B	c.40+15G>T	NM_199037.5	NP_950238.1:p.?	NC_000019.9:g.35521779G>T	(Likely) benign	4 labs	4c1c8c8eea
12:48375568 COL2A1 A>G	12	48375568	48375568	A	G	COL2A1	c.2400T>C	NM_001844.5	NP_001835.3:p.(Asn800=)	NC_000012.11:g.48375568A>G	(Likely) benign	4 labs	4c409a8944
17:29509641 NF1 G>A	17	29509641	29509641	G	A	NF1	c.846G>A	NM_000267.3	NP_000258.1:p.(Gln282=)	NC_000017.10:g.29509641G>A	(Likely) benign	5 labs	4c426844d0
7:99703604 AP4M1 C>T	7	99703604	99703604	C	T	AP4M1	c.952C>T	NM_004722.4	NP_004713.2:p.(Arg318Ter)	NC_000007.13:g.99703604C>T	(Likely) pathogenic	2 labs	48fc3d8d76
2:219920173 IHH G>A	2	219920173	219920173	G	A	IHH	c.992C>T	NM_002181.4	NP_002172.2:p.(Pro331Leu)	NC_000002.11:g.219920173G>A	VUS	2 labs	48fe62dd70
4:5749904 EVC T>C	4	5749904	5749904	T	C	EVC	c.969T>C	NM_153717.3	NP_714928.1:p.(Asn323=)	NC_000004.11:g.5749904T>C	(Likely) benign	2 labs	4907013fbb
3:158409262 GFM1 C>T	3	158409262	158409262	C	T	GFM1	c.*6C>T	NM_024996.7	NP_079272.4:p.?	NC_000003.11:g.158409262C>T	(Likely) benign	2 labs	49093c3ce8
17:76137198 TMC8 T>G	17	76137198	76137198	T	G	TMC8	c.*5T>G	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76137198T>G	(Likely) benign	2 labs	4910701c07
9:134385436 POMT1 A>G	9	134385436	134385436	A	G	POMT1	c.752A>G	NM_007171.4	NP_009102.4:p.(Gln251Arg)	NC_000009.11:g.134385436A>G	(Likely) benign	2 labs	4c58415495
5:169533240 FOXI1 G>A	5	169533240	169533240	G	A	FOXI1	c.279G>A	NM_012188.5	NP_036320.2:p.(Arg93=)	NC_000005.9:g.169533240G>A	(Likely) benign	2 labs	4929265c01
1:241683033 FH G>A	1	241683033	241683033	G	A	FH	c.-11C>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241683033G>A	(Likely) benign	2 labs	4932584d04
2:179579797 TTN C>T	2	179579797	179579797	C	T	TTN	c.26116G>A	NM_001267550.2	NP_001254479.2:p.(Asp8706Asn)	NC_000002.11:g.179579797C>T	VUS	2 labs	4c63083efd
1:227071525 PSEN2 C>T	1	227071525	227071525	C	T	PSEN2	c.261C>T	NM_000447.3	NP_000438.2:p.(His87=)	NC_000001.10:g.227071525C>T	(Likely) benign	4 labs	4c7531f0be
13:101763528 NALCN C>T	13	101763528	101763528	C	T	NALCN	c.2242G>A	NM_052867.4	NP_443099.1:p.(Ala748Thr)	NC_000013.10:g.101763528C>T	VUS	2 labs	493c8cb92d
1:16376319 CLCNKB T>C	1	16376319	16376319	T	C	CLCNKB	c.876T>C	NM_000085.5	NP_000076.2:p.(Cys292=)	NC_000001.10:g.16376319T>C	(Likely) benign	3 labs	4c762ec1a9
11:5248243 HBB A>G	11	5248243	5248243	A	G	HBB	c.9T>C	NM_000518.5	NP_000509.1:p.(His3=)	NC_000011.9:g.5248243A>G	(Likely) benign	2 labs	4c7d0d2181
2:179597160 TTN T>A	2	179597160	179597160	T	A	TTN	c.16621+7A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597160T>A	(Likely) benign	5 labs	4c883e7ec9
1:201330400 TNNT2 G>T	1	201330400	201330400	G	T	TNNT2	c.801+7C>A	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201330400G>T	(Likely) benign	2 labs	4c8c46c5e1
7:128478375 FLNC G>A	7	128478375	128478375	G	A	FLNC	c.1102G>A	NM_001458.5	NP_001449.3:p.(Val368Met)	NC_000007.13:g.128478375G>A	VUS	2 labs	4c940b58a8
X:7066051 STS A>C	X	7066051	7066051	A	C	STS	c.-325A>C	NM_001320751.2	NP_001307680.1:p.?	NC_000023.10:g.7066051A>C	(Likely) benign	2 labs	4970ee434a
2:179640598 TTN C>T	2	179640598	179640598	C	T	TTN	c.5993G>A	NM_001267550.2	NP_001254479.2:p.(Arg1998His)	NC_000002.11:g.179640598C>T	(Likely) benign	5 labs	4caa4a4111
16:8905054 PMM2 T>C	16	8905054	8905054	T	C	PMM2	c.447+19T>C	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8905054T>C	(Likely) benign	4 labs	4cad4b1132
12:7053317 C12orf57 G>C	12	7053317	7053317	G	C	C12orf57	c.33G>C	NM_138425.4	NP_612434.1:p.(Leu11Phe)	NC_000012.11:g.7053317G>C	VUS	2 labs	4986a3fdef
X:47483800 CFP G>A	X	47483800	47483800	G	A	CFP	c.1284C>T	NM_002621.2	NP_002612.1:p.(Asn428=)	NC_000023.10:g.47483800G>A	(Likely) benign	2 labs	498ced84f8
16:7680600 RBFOX1 C>T	16	7680600	7680600	C	T	RBFOX1	c.737-5C>T	NM_145891.3	NP_665898.1:p.?	NC_000016.9:g.7680600C>T	(Likely) benign	2 labs	499189d388
17:78079669 GAA G>A	17	78079669	78079669	G	A	GAA	c.668G>A	NM_000152.5	NP_000143.2:p.(Arg223His)	NC_000017.10:g.78079669G>A	(Likely) benign	3 labs	4ccee1e44e
11:47356671 MYBPC3 G>A	11	47356671	47356671	G	A	MYBPC3	c.2827C>T	NM_000256.3	NP_000247.2:p.(Arg943Ter)	NC_000011.9:g.47356671G>A	(Likely) pathogenic	6 labs	4ccf542c3f
7:21658855 DNAH11 A>G	7	21658855	21658855	A	G	DNAH11	c.4377+15A>G	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21658855A>G	(Likely) benign	2 labs	4a14e2a969
4:17503382 QDPR C>T	4	17503382	17503382	C	T	QDPR	c.396G>A	NM_000320.3	NP_000311.2:p.(Leu132=)	NC_000004.11:g.17503382C>T	(Likely) benign	3 labs	4cd2dc41f1
18:55362430 ATP8B1 A>T	18	55362430	55362430	A	T	ATP8B1	c.913T>A	NM_005603.6	NP_005594.2:p.(Phe305Ile)	NC_000018.9:g.55362430A>T	(Likely) benign	2 labs	4cd73e004d
2:179464059 TTN C>T	2	179464059	179464059	C	T	TTN	c.56461G>A	NM_001267550.2	NP_001254479.2:p.(Val18821Ile)	NC_000002.11:g.179464059C>T	VUS	5 labs	4cdb43fd8b
20:42788910 JPH2 C>A	20	42788910	42788910	C	A	JPH2	c.517G>T	NM_020433.5	NP_065166.2:p.(Gly173Cys)	NC_000020.10:g.42788910C>A	VUS	2 labs	4cdd52dc2b
6:7566614 DSP G>A	6	7566614	7566614	G	A	DSP	c.944G>A	NM_004415.4	NP_004406.2:p.(Arg315His)	NC_000006.11:g.7566614G>A	VUS	3 labs	4ce8f77a3d
17:18055229 MYO15A G>A	17	18055229	18055229	G	A	MYO15A	c.7857G>A	NM_016239.4	NP_057323.3:p.(Gly2619=)	NC_000017.10:g.18055229G>A	(Likely) benign	2 labs	49f3ebd1e5
20:3214819 SLC4A11 T>G	20	3214819	3214819	T	G	SLC4A11	c.481A>C	NM_032034.4	NP_114423.1:p.(Arg161=)	NC_000020.10:g.3214819T>G	(Likely) benign	2 labs	4a01570005
9:107578507 ABCA1 C>A	9	107578507	107578507	C	A	ABCA1	c.3655G>T	NM_005502.4	NP_005493.2:p.(Val1219Leu)	NC_000009.11:g.107578507C>A	VUS	2 labs	4cfc1606f1
6:80228541 LCA5 A>G	6	80228541	80228541	A	G	LCA5	c.71T>C	NM_181714.4	NP_859065.2:p.(Leu24Ser)	NC_000006.11:g.80228541A>G	(Likely) benign	2 labs	4a1644bd5e
15:100821426 ADAMTS17 G>A	15	100821426	100821426	G	A	ADAMTS17	c.789+8C>T	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100821426G>A	(Likely) benign	2 labs	4d09244130
7:128038555 IMPDH1 C>G	7	128038555	128038555	C	G	IMPDH1	c.987G>C	NM_000883.4	NP_000874.2:p.(Leu329=)	NC_000007.13:g.128038555C>G	(Likely) benign	2 labs	4d0c3881ad
9:98209584 PTCH1 C>T	9	98209584	98209584	C	T	PTCH1	c.3756G>A	NM_001083602.3	NP_001077071.1:p.(Pro1252=)	NC_000009.11:g.98209584C>T	(Likely) benign	2 labs	4d0f605d21
2:179565868 TTN G>A	2	179565868	179565868	G	A	TTN	c.30661C>T	NM_001267550.2	NP_001254479.2:p.(Pro10221Ser)	NC_000002.11:g.179565868G>A	VUS	2 labs	4a439b6bea
19:54651898 CNOT3 G>A	19	54651898	54651898	G	A	CNOT3	c.910G>A	NM_014516.4	NP_055331.1:p.(Gly304Ser)	NC_000019.9:g.54651898G>A	(Likely) benign	2 labs	4a55fb1fcc
12:7045891 ATN1 ACAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAG	A	ATN1	c.1500_1508del	NM_001007026.2	NP_001007027.1:p.(Gln500_Gln502del)	NC_000012.11:g.7045930_7045938del	(Likely) benign	3 labs	4d154ee827
21:44485350 CBS G>A	21	44485350	44485350	G	A	CBS	c.699C>T	NM_000071.3	NP_000062.1:p.(Tyr233=)	NC_000021.8:g.44485350G>A	(Likely) benign	3 labs	4d1f551359
2:179605212 TTN C>T	2	179605212	179605212	C	T	TTN	c.12748G>A	NM_001267550.2	NP_001254479.2:p.(Val4250Met)	NC_000002.11:g.179605212C>T	(Likely) benign	6 labs	4d20a6a436
5:112178822 APC C>T	5	112178822	112178822	C	T	APC	c.7531C>T	NM_000038.6	NP_000029.2:p.(Leu2511Phe)	NC_000005.9:g.112178822C>T	VUS	2 labs	4a5ac4e7a1
3:38628937 SCN5A C>A	3	38628937	38628937	C	A	SCN5A	c.2390G>T	NM_198056.3	NP_932173.1:p.(Gly797Val)	NC_000003.11:g.38628937C>A	VUS	2 labs	4a7b1862a8
2:179434945 TTN G>A	2	179434945	179434945	G	A	TTN	c.75914C>T	NM_001267550.2	NP_001254479.2:p.(Pro25305Leu)	NC_000002.11:g.179434945G>A	VUS	4 labs	4d31996ebd
1:78408274 NEXN T>G	1	78408274	78408274	T	G	NEXN	c.1788T>G	NM_144573.4	NP_653174.3:p.(Ser596Arg)	NC_000001.10:g.78408274T>G	(Likely) benign	4 labs	4d33efac35
3:38591853 SCN5A A>G	3	38591853	38591853	A	G	SCN5A	c.6010T>C	NM_001099404.2	NP_001092874.1:p.(Phe2004Leu)	NC_000003.11:g.38591853A>G	(Likely) benign	3 labs	4d44637ba4
9:133948055 LAMC3 G>C	9	133948055	133948055	G	C	LAMC3	c.3250G>C	NM_006059.4	NP_006050.3:p.(Glu1084Gln)	NC_000009.11:g.133948055G>C	(Likely) benign	4 labs	4d4c996653
15:43892847 STRC G>C	15	43892847	43892847	G	C	STRC	c.4878C>G	NM_153700.2	NP_714544.1:p.(Leu1626=)	NC_000015.9:g.43892847G>C	(Likely) benign	2 labs	4acba8be86
19:50760716 MYH14 C>G	19	50760716	50760716	C	G	MYH14	c.2205C>G	NM_001145809.2	NP_001139281.1:p.(Arg735=)	NC_000019.9:g.50760716C>G	(Likely) benign	2 labs	4d58c184a9
11:76853783 MYO7A T>C	11	76853783	76853783	T	C	MYO7A	c.47T>C	NM_000260.4	NP_000251.3:p.(Leu16Ser)	NC_000011.9:g.76853783T>C	(Likely) benign	3 labs	4d6032254d
10:82040052 MAT1A A>G	10	82040052	82040052	A	G	MAT1A	c.426T>C	NM_000429.3	NP_000420.1:p.(Ala142=)	NC_000010.10:g.82040052A>G	(Likely) benign	2 labs	4aff8bdc61
2:122288506 RNU4ATAC G>A	2	122288506	122288506	G	A	RNU4ATAC	n.51G>A	NR_023343.1		NC_000002.11:g.122288506G>A	(Likely) pathogenic	2 labs	4d757f48ea
10:112590871 RBM20 G>A	10	112590871	112590871	G	A	RBM20	c.3504G>A	NM_001134363.3	NP_001127835.2:p.(Leu1168=)	NC_000010.10:g.112590871G>A	(Likely) benign	3 labs	4d7bffcd61
3:182790249 MCCC1 G>A	3	182790249	182790249	G	A	MCCC1	c.396C>T	NM_020166.5	NP_064551.3:p.(Leu132=)	NC_000003.11:g.182790249G>A	(Likely) benign	2 labs	4b3f2c4c36
15:48707878 FBN1 C>T	15	48707878	48707878	C	T	FBN1	c.7906G>A	NM_000138.5	NP_000129.3:p.(Gly2636Ser)	NC_000015.9:g.48707878C>T	VUS	2 labs	4d7c2464fa
14:23888685 MYH7 G>A	14	23888685	23888685	G	A	MYH7	c.3853+7C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888685G>A	(Likely) benign	6 labs	4d852f3a4c
11:1959707 TNNT3 C>T	11	1959707	1959707	C	T	TNNT3	c.762C>T	NM_006757.4	NP_006748.1:p.(Gly254=)	NC_000011.9:g.1959707C>T	(Likely) benign	2 labs	4db21057c2
18:72775978 ZNF407 G>A	18	72775978	72775978	G	A	ZNF407	c.6301G>A	NM_017757.3	NP_060227.2:p.(Gly2101Ser)	NC_000018.9:g.72775978G>A	VUS	2 labs	4b93491337
2:21225485 APOB C>G	2	21225485	21225485	C	G	APOB	c.12809G>C	NM_000384.3	NP_000375.3:p.(Arg4270Thr)	NC_000002.11:g.21225485C>G	(Likely) benign	2 labs	4dc9d96bc2
2:220285283 DES C>G	2	220285283	220285283	C	G	DES	c.802C>G	NM_001927.4	NP_001918.3:p.(Pro268Ala)	NC_000002.11:g.220285283C>G	VUS	4 labs	4dcab56123
5:90040890 ADGRV1 T>C	5	90040890	90040890	T	C	ADGRV1	c.10577T>C	NM_032119.4	NP_115495.3:p.(Met3526Thr)	NC_000005.9:g.90040890T>C	(Likely) benign	2 labs	4dce299a1b
X:153296878 MECP2 G>C	X	153296878	153296878	G	C	MECP2	c.401C>G	NM_004992.4	NP_004983.1:p.(Ser134Cys)	NC_000023.10:g.153296878G>C	(Likely) pathogenic	2 labs	4b99af7f04
10:123239112 FGFR2 G>A	10	123239112	123239112	G	A	FGFR2	c.2107C>T	NM_001144915.2	NP_001138387.1:p.(Leu703=)	NC_000010.10:g.123239112G>A	(Likely) benign	3 labs	4df4461668
19:45868309 ERCC2 T>G	19	45868309	45868309	T	G	ERCC2	c.468A>C	NM_000400.4	NP_000391.1:p.(Arg156=)	NC_000019.9:g.45868309T>G	(Likely) benign	2 labs	4df72fcff2
15:44858517 SPG11 AAAG>A	15	44858517	44858524	AAAG	A	SPG11	c.6755-17_6755-15del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44858522_44858524del	(Likely) benign	3 labs	4e00e0c67c
17:7578388 TP53 C>T	17	7578388	7578388	C	T	TP53	c.542G>A	NM_000546.6	NP_000537.3:p.(Arg181His)	NC_000017.10:g.7578388C>T	(Likely) pathogenic	3 labs	4bc5452baa
11:71153365 DHCR7 T>C	11	71153365	71153365	T	C	DHCR7	c.356A>G	NM_001360.3	NP_001351.2:p.(His119Arg)	NC_000011.9:g.71153365T>C	VUS	2 labs	4bc834914d
2:216272819 FN1 C>G	2	216272819	216272819	C	G	FN1	c.2518+12G>C	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216272819C>G	(Likely) benign	2 labs	4bd00c7d48
1:237664074 RYR2 G>A	1	237664074	237664074	G	A	RYR2	c.2267G>A	NM_001035.3	NP_001026.2:p.(Ser756Asn)	NC_000001.10:g.237664074G>A	(Likely) benign	2 labs	4e06676cd8
12:49444379 KMT2D G>T	12	49444379	49444379	G	T	KMT2D	c.2992C>A	NM_003482.4	NP_003473.3:p.(Pro998Thr)	NC_000012.11:g.49444379G>T	(Likely) benign	5 labs	4e1643b342
11:27389739 LGR4 T>C	11	27389739	27389739	T	C	LGR4	c.2531A>G	NM_018490.5	NP_060960.2:p.(Asp844Gly)	NC_000011.9:g.27389739T>C	(Likely) benign	2 labs	4bebc50744
22:29121326 CHEK2 T>C	22	29121326	29121326	T	C	CHEK2	c.349A>G	NM_007194.4	NP_009125.1:p.(Arg117Gly)	NC_000022.10:g.29121326T>C	(Likely) pathogenic	6 labs	4e1b3e0409
12:50344976 AQP2 G>A	12	50344976	50344976	G	A	AQP2	c.360+3G>A	NM_000486.6	NP_000477.1:p.?	NC_000012.11:g.50344976G>A	(Likely) benign	3 labs	4e276ded9c
2:179396820 TTN C>T	2	179396820	179396820	C	T	TTN	c.104522G>A	NM_001267550.2	NP_001254479.2:p.(Arg34841His)	NC_000002.11:g.179396820C>T	VUS	5 labs	4e2e65f8f6
2:170218816 LRP2 T>C	2	170218816	170218816	T	C	LRP2	c.79+15A>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170218816T>C	(Likely) benign	2 labs	4c1df4a19e
1:156785617 NTRK1 G>A	1	156785617	156785617	G	A	NTRK1	c.-5G>A	NM_001007792.1	NP_001007793.1:p.?	NC_000001.10:g.156785617G>A	(Likely) benign	2 labs	4e36c4111d
2:163128893 IFIH1 C>T	2	163128893	163128893	C	T	IFIH1	c.2459G>A	NM_022168.4	NP_071451.2:p.(Arg820His)	NC_000002.11:g.163128893C>T	VUS	2 labs	4c636ce28d
16:8904945 PMM2 C>A	16	8904945	8904945	C	A	PMM2	c.357C>A	NM_000303.3	NP_000294.1:p.(Phe119Leu)	NC_000016.9:g.8904945C>A	(Likely) pathogenic	6 labs	4e4ad4b887
11:2906196 CDKN1C ACCGCGACCGGAG>A	11	2906196	2906235	ACCGCGACCGGAG	A	CDKN1C	c.512_523del	NM_000076.2	NP_000067.1:p.(Ala171_Ala174del)	NC_000011.9:g.2906224_2906235del	(Likely) benign	4 labs	4e5e8f3a1e
1:1458925 ATAD3A C>T	1	1458925	1458925	C	T	ATAD3A	c.1085C>T	NM_018188.5	NP_060658.3:p.(Ala362Val)	NC_000001.10:g.1458925C>T	VUS	2 labs	4c93b2d989
2:152737432 CACNB4 T>A	2	152737432	152737432	T	A	CACNB4	c.170A>T	NM_001005747.4	NP_001005747.1:p.(Lys57Ile)	NC_000002.11:g.152737432T>A	VUS	2 labs	4c9e079c09
15:93552516 CHD2 G>A	15	93552516	93552516	G	A	CHD2	c.4555G>A	NM_001271.4	NP_001262.3:p.(Ala1519Thr)	NC_000015.9:g.93552516G>A	VUS	2 labs	4ca5d5569a
16:89199651 ACSF3 G>A	16	89199651	89199651	G	A	ACSF3	c.1347G>A	NM_001243279.3	NP_001230208.1:p.(Leu449=)	NC_000016.9:g.89199651G>A	(Likely) benign	2 labs	4ca60e3cd9
14:53619509 DDHD1 T>C	14	53619509	53619509	T	C	DDHD1	c.308A>G	NM_001160147.2	NP_001153619.1:p.(Tyr103Cys)	NC_000014.8:g.53619509T>C	VUS	2 labs	4e6294cd6d
22:20780097 SCARF2 G>C	22	20780097	20780097	G	C	SCARF2	c.2181=	NM_153334.7	NP_699165.3:p.(Arg727=)	NC_000022.10:g.20780097G>C	(Likely) benign	3 labs	4cbf18560a
5:151202476 GLRA1 C>T	5	151202476	151202476	C	T	GLRA1	c.1132G>A	NM_001146040.2	NP_001139512.1:p.(Gly378Ser)	NC_000005.9:g.151202476C>T	(Likely) benign	3 labs	4e758f8336
22:19950235 COMT C>T	22	19950235	19950235	C	T	COMT	c.186C>T	NM_000754.4	NP_000745.1:p.(His62=)	NC_000022.10:g.19950235C>T	(Likely) benign	4 labs	4e83bcf33a
17:7127674 ACADVL G>A	17	7127674	7127674	G	A	ACADVL	c.1567G>A	NM_000018.4	NP_000009.1:p.(Gly523Arg)	NC_000017.10:g.7127674G>A	VUS	2 labs	4cf357f910
15:100589056 ADAMTS17 T>C	15	100589056	100589056	T	C	ADAMTS17	c.2591+6A>G	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100589056T>C	(Likely) benign	2 labs	4e8c048045
2:179612373 TTN A>C	2	179612373	179612373	A	C	TTN	c.14754T>G	NM_133379.5	NP_596870.2:p.(Pro4918=)	NC_000002.11:g.179612373A>C	(Likely) benign	5 labs	4e93fb022d
2:179444490 TTN A>G	2	179444490	179444490	A	G	TTN	c.67434T>C	NM_001267550.2	NP_001254479.2:p.(Asp22478=)	NC_000002.11:g.179444490A>G	(Likely) benign	2 labs	4d21298ee0
2:179641327 TTN T>C	2	179641327	179641327	T	C	TTN	c.5264A>G	NM_001267550.2	NP_001254479.2:p.(Asn1755Ser)	NC_000002.11:g.179641327T>C	VUS	2 labs	4ed0929493
3:38647482 SCN5A C>T	3	38647482	38647482	C	T	SCN5A	c.1298G>A	NM_198056.3	NP_932173.1:p.(Arg433His)	NC_000003.11:g.38647482C>T	VUS	4 labs	4f1cb57e29
14:58943846 KIAA0586 A>G	14	58943846	58943846	A	G	KIAA0586	c.2831A>G	NM_001329944.2	NP_001316873.1:p.(Glu944Gly)	NC_000014.8:g.58943846A>G	VUS	2 labs	4d69a84f98
9:33001564 APTX C>A	9	33001564	33001564	C	A	APTX	c.-111+1G>T	NM_175073.3	NP_778243.1:p.?	NC_000009.11:g.33001564C>A	VUS	2 labs	4d8218c139
19:45412008 APOE G>A	19	45412008	45412008	G	A	APOE	c.455G>A	NM_000041.4	NP_000032.1:p.(Arg152Gln)	NC_000019.9:g.45412008G>A	VUS	3 labs	4f27e1f085
17:56772550 RAD51C G>C	17	56772550	56772550	G	C	RAD51C	c.404G>C	NM_058216.3	NP_478123.1:p.(Cys135Ser)	NC_000017.10:g.56772550G>C	(Likely) pathogenic	2 labs	4f2e5ac4a7
20:43052694 HNF4A G>A	20	43052694	43052694	G	A	HNF4A	c.863G>A	NM_175914.4	NP_787110.2:p.(Arg288Gln)	NC_000020.10:g.43052694G>A	VUS	2 labs	4d7f60e4c1
12:32861094 DNM1L C>T	12	32861094	32861094	C	T	DNM1L	c.305C>T	NM_012062.5	NP_036192.2:p.(Thr102Met)	NC_000012.11:g.32861094C>T	VUS	2 labs	4d84ea0db7
12:58159088 CYP27B1 C>T	12	58159088	58159088	C	T	CYP27B1	c.581G>A	NM_000785.4	NP_000776.1:p.(Gly194Glu)	NC_000012.11:g.58159088C>T	VUS	2 labs	4d8fed28f2
2:179449687 TTN C>T	2	179449687	179449687	C	T	TTN	c.64681G>A	NM_001267550.2	NP_001254479.2:p.(Gly21561Ser)	NC_000002.11:g.179449687C>T	VUS	3 labs	4d94a43e63
13:32932047 BRCA2 G>A	13	32932047	32932047	G	A	BRCA2	c.7786G>A	NM_000059.4	NP_000050.3:p.(Gly2596Arg)	NC_000013.10:g.32932047G>A	(Likely) pathogenic	2 labs	4d98cad21a
2:179431449 TTN C>T	2	179431449	179431449	C	T	TTN	c.79410G>A	NM_001267550.2	NP_001254479.2:p.(Gly26470=)	NC_000002.11:g.179431449C>T	(Likely) benign	4 labs	4f3575a4f9
7:35288376 TBX20 A>G	7	35288376	35288376	A	G	TBX20	c.458T>C	NM_001077653.2	NP_001071121.1:p.(Val153Ala)	NC_000007.13:g.35288376A>G	VUS	2 labs	4da193a93f
17:41219648 BRCA1 G>A	17	41219648	41219648	G	A	BRCA1	c.5051C>T	NM_007294.4	NP_009225.1:p.(Thr1684Ile)	NC_000017.10:g.41219648G>A	(Likely) pathogenic	2 labs	4daf336b34
1:151774318 LINGO4 A>T	1	151774318	151774318	A	T	LINGO4	c.863T>A	NM_001004432.4	NP_001004432.1:p.(Ile288Asn)	NC_000001.10:g.151774318A>T	VUS	2 labs	4ded6b770f
7:94227276 SGCE T>G	7	94227276	94227276	T	G	SGCE	c.1294A>C	NM_001099401.2	NP_001092871.1:p.(Ser432Arg)	NC_000007.13:g.94227276T>G	(Likely) benign	3 labs	4f43ff7420
17:41245210 BRCA1 G>A	17	41245210	41245210	G	A	BRCA1	c.2338C>T	NM_007294.4	NP_009225.1:p.(Gln780Ter)	NC_000017.10:g.41245210G>A	(Likely) pathogenic	6 labs	4f444d1402
4:88537737 DSPP G>A	4	88537737	88537737	G	A	DSPP	c.*17G>A	NM_014208.3	NP_055023.2:p.?	NC_000004.11:g.88537737G>A	(Likely) benign	2 labs	4e0f11770d
X:153218375 HCFC1 C>T	X	153218375	153218375	C	T	HCFC1	c.4532G>A	NM_005334.3	NP_005325.2:p.(Arg1511His)	NC_000023.10:g.153218375C>T	VUS	2 labs	4e159f9ed0
19:13004444 GCDH G>A	19	13004444	13004444	G	A	GCDH	c.482G>A	NM_000159.4	NP_000150.1:p.(Arg161Gln)	NC_000019.9:g.13004444G>A	(Likely) pathogenic	2 labs	4e19b103ce
14:64476680 SYNE2 T>A	14	64476680	64476680	T	A	SYNE2	c.4578-4T>A	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64476680T>A	(Likely) benign	2 labs	4f76971308
2:121744056 GLI2 G>A	2	121744056	121744056	G	A	GLI2	c.2159G>A	NM_005270.5	NP_005261.2:p.(Arg720His)	NC_000002.11:g.121744056G>A	(Likely) benign	2 labs	4e5d115aa7
10:112541077 RBM20 G>T	10	112541077	112541077	G	T	RBM20	c.710G>T	NM_001134363.3	NP_001127835.2:p.(Gly237Val)	NC_000010.10:g.112541077G>T	VUS	2 labs	4f8eae5dfb
6:152762307 SYNE1 A>T	6	152762307	152762307	A	T	SYNE1	c.4107T>A	NM_182961.4	NP_892006.3:p.(Phe1369Leu)	NC_000006.11:g.152762307A>T	(Likely) benign	3 labs	4fa4653e86
12:5021984 KCNA1 T>A	12	5021984	5021984	T	A	KCNA1	c.1440T>A	NM_000217.3	NP_000208.2:p.(Thr480=)	NC_000012.11:g.5021984T>A	(Likely) benign	3 labs	4fa82039cf
2:238233410 COL6A3 C>G	2	238233410	238233410	C	G	COL6A3	c.*7G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238233410C>G	(Likely) benign	3 labs	4fb94a142e
3:145838895 PLOD2 C>T	3	145838895	145838895	C	T	PLOD2	c.338+4G>A	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145838895C>T	(Likely) benign	2 labs	4fccb1b47b
5:178581859 ADAMTS2 G>A	5	178581859	178581859	G	A	ADAMTS2	c.1194C>T	NM_014244.5	NP_055059.2:p.(Asp398=)	NC_000005.9:g.178581859G>A	(Likely) benign	2 labs	4e9b14fc77
16:3900384 CREBBP C>G	16	3900384	3900384	C	G	CREBBP	c.712G>C	NM_004380.3	NP_004371.2:p.(Val238Leu)	NC_000016.9:g.3900384C>G	(Likely) benign	3 labs	4fcd3dc624
10:86012713 RGR C>T	10	86012713	86012713	C	T	RGR	c.471C>T	NM_002921.4	NP_002912.2:p.(Tyr157=)	NC_000010.10:g.86012713C>T	(Likely) benign	2 labs	4ebd8d5c89
17:10542472 MYH3 C>T	17	10542472	10542472	C	T	MYH3	c.3137G>A	NM_002470.4	NP_002461.2:p.(Arg1046Gln)	NC_000017.10:g.10542472C>T	VUS	2 labs	4ece8787cc
22:18900669 PRODH A>G	22	18900669	18900669	A	G	PRODH	c.*19T>C	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18900669A>G	(Likely) benign	2 labs	4eff07b8ae
1:201047075 CACNA1S A>G	1	201047075	201047075	A	G	CACNA1S	c.1551T>C	NM_000069.3	NP_000060.2:p.(Gly517=)	NC_000001.10:g.201047075A>G	(Likely) benign	2 labs	4fed7baaf8
2:189864080 COL3A1 G>A	2	189864080	189864080	G	A	COL3A1	c.2092G>A	NM_000090.4	NP_000081.2:p.(Ala698Thr)	NC_000002.11:g.189864080G>A	(Likely) benign	3 labs	4ff6456fb5
2:170218847 LRP2 C>G	2	170218847	170218847	C	G	LRP2	c.63G>C	NM_004525.3	NP_004516.2:p.(Ala21=)	NC_000002.11:g.170218847C>G	(Likely) benign	2 labs	4eddf06809
1:237880501 RYR2 G>C	1	237880501	237880501	G	C	RYR2	c.10327G>C	NM_001035.3	NP_001026.2:p.(Ala3443Pro)	NC_000001.10:g.237880501G>C	VUS	2 labs	4eeb21bd72
1:156107492 LMNA C>T	1	156107492	156107492	C	T	LMNA	c.1656C>T	NM_170707.4	NP_733821.1:p.(Asp552=)	NC_000001.10:g.156107492C>T	(Likely) benign	5 labs	500a7e43de
19:7712277 STXBP2 A>G	19	7712277	7712277	A	G	STXBP2	c.1609A>G	NM_001272034.2	NP_001258963.1:p.(Ile537Val)	NC_000019.9:g.7712277A>G	(Likely) benign	2 labs	4f18dc250e
2:223161889 PAX3 A>G	2	223161889	223161889	A	G	PAX3	c.129T>C	NM_181458.4	NP_852123.1:p.(Gly43=)	NC_000002.11:g.223161889A>G	(Likely) benign	2 labs	5010d13a81
13:32912454 BRCA2 A>G	13	32912454	32912454	A	G	BRCA2	c.3962A>G	NM_000059.4	NP_000050.3:p.(Asp1321Gly)	NC_000013.10:g.32912454A>G	(Likely) benign	2 labs	4f257b9c19
11:47358997 MYBPC3 G>A	11	47358997	47358997	G	A	MYBPC3	c.2547C>T	NM_000256.3	NP_000247.2:p.(Val849=)	NC_000011.9:g.47358997G>A	(Likely) benign	6 labs	502540dfc6
2:223158911 PAX3 G>C	2	223158911	223158911	G	C	PAX3	c.561C>G	NM_181457.4	NP_852122.1:p.(Ser187Arg)	NC_000002.11:g.223158911G>C	VUS	2 labs	5027761080
1:236914806 ACTN2 C>T	1	236914806	236914806	C	T	ACTN2	c.1069C>T	NM_001278344.2	NP_001265273.1:p.(Leu357=)	NC_000001.10:g.236914806C>T	(Likely) benign	2 labs	502814cc66
11:46898771 LRP4 T>C	11	46898771	46898771	T	C	LRP4	c.3256A>G	NM_002334.4	NP_002325.2:p.(Ile1086Val)	NC_000011.9:g.46898771T>C	(Likely) benign	2 labs	503ab062ef
19:11213441 LDLR G>A	19	11213441	11213441	G	A	LDLR	c.292G>A	NM_000527.5	NP_000518.1:p.(Gly98Ser)	NC_000019.9:g.11213441G>A	VUS	2 labs	4f43de4156
10:50682102 ERCC6 G>A	10	50682102	50682102	G	A	ERCC6	c.2569C>T	NM_000124.4	NP_000115.1:p.(Arg857Ter)	NC_000010.10:g.50682102G>A	(Likely) pathogenic	2 labs	504f2c4398
20:5294762 PROKR2 C>T	20	5294762	5294762	C	T	PROKR2	c.254G>A	NM_144773.4	NP_658986.1:p.(Arg85His)	NC_000020.10:g.5294762C>T	VUS	2 labs	5051d2f27c
10:112572056 RBM20 G>A	10	112572056	112572056	G	A	RBM20	c.1901G>A	NM_001134363.3	NP_001127835.2:p.(Arg634Gln)	NC_000010.10:g.112572056G>A	(Likely) pathogenic	3 labs	5052c005ab
16:89167094 ACSF3 T>C	16	89167094	89167094	T	C	ACSF3	c.5T>C	NM_001243279.3	NP_001230208.1:p.(Leu2Pro)	NC_000016.9:g.89167094T>C	(Likely) benign	2 labs	505cb10dad
16:47684830 PHKB C>A	16	47684830	47684830	C	A	PHKB	c.1948C>A	NM_001031835.3	NP_001027005.1:p.(Gln650Lys)	NC_000016.9:g.47684830C>A	(Likely) benign	2 labs	505f8be794
1:244218604 ZBTB18 G>A	1	244218604	244218604	G	A	ZBTB18	c.1528G>A	NM_205768.3	NP_991331.1:p.(Glu510Lys)	NC_000001.10:g.244218604G>A	VUS	2 labs	50610c5350
2:167136962 SCN9A T>C	2	167136962	167136962	T	C	SCN9A	c.2215A>G	NM_002977.3	NP_002968.1:p.(Ile739Val)	NC_000002.11:g.167136962T>C	(Likely) benign	3 labs	5064235a0b
5:176831826 F12 C>G	5	176831826	176831826	C	G	F12	c.619G>C	NM_000505.4	NP_000496.2:p.(Ala207Pro)	NC_000005.9:g.176831826C>G	(Likely) benign	2 labs	4f8afb8a9e
13:32931877 BRCA2 A>G	13	32931877	32931877	A	G	BRCA2	c.7618-2A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32931877A>G	(Likely) pathogenic	2 labs	506824f553
16:88498221 ZNF469 C>T	16	88498221	88498221	C	T	ZNF469	c.4343C>T	NM_001367624.2	NP_001354553.1:p.(Pro1448Leu)	NC_000016.9:g.88498221C>T	(Likely) benign	3 labs	5069e13152
6:51907900 PKHD1 C>T	6	51907900	51907900	C	T	PKHD1	c.2854G>A	NM_138694.4	NP_619639.3:p.(Gly952Arg)	NC_000006.11:g.51907900C>T	(Likely) pathogenic	3 labs	5069f664ab
5:90119324 ADGRV1 G>A	5	90119324	90119324	G	A	ADGRV1	c.16279G>A	NM_032119.4	NP_115495.3:p.(Val5427Met)	NC_000005.9:g.90119324G>A	(Likely) benign	2 labs	4f99c98de9
17:37822174 TCAP C>T	17	37822174	37822174	C	T	TCAP	c.316C>T	NM_003673.4	NP_003664.1:p.(Arg106Cys)	NC_000017.10:g.37822174C>T	(Likely) benign	5 labs	50856772e6
2:227915832 COL4A4 G>A	2	227915832	227915832	G	A	COL4A4	c.3011C>T	NM_000092.5	NP_000083.3:p.(Pro1004Leu)	NC_000002.11:g.227915832G>A	(Likely) benign	2 labs	4fc74bdf30
3:53785830 CACNA1D A>C	3	53785830	53785830	A	C	CACNA1D	c.3631A>C	NM_000720.4	NP_000711.1:p.(Lys1211Gln)	NC_000003.11:g.53785830A>C	VUS	2 labs	4fd1a9f6ed
15:85191768 WDR73 C>T	15	85191768	85191768	C	T	WDR73	c.287G>A	NM_032856.5	NP_116245.2:p.(Arg96Lys)	NC_000015.9:g.85191768C>T	(Likely) pathogenic	3 labs	4fe7fdc39b
1:237947632 RYR2 C>T	1	237947632	237947632	C	T	RYR2	c.12620C>T	NM_001035.3	NP_001026.2:p.(Ser4207Leu)	NC_000001.10:g.237947632C>T	(Likely) pathogenic	3 labs	50a4e31ea1
2:179560858 TTN A>G	2	179560858	179560858	A	G	TTN	c.30941T>C	NM_001267550.2	NP_001254479.2:p.(Ile10314Thr)	NC_000002.11:g.179560858A>G	VUS	3 labs	50afdcd83e
11:108181032 ATM C>T	11	108181032	108181032	C	T	ATM	c.5908C>T	NM_000051.4	NP_000042.3:p.(Gln1970Ter)	NC_000011.9:g.108181032C>T	(Likely) pathogenic	2 labs	4ffe923c19
12:2794937 CACNA1C C>T	12	2794937	2794937	C	T	CACNA1C	c.5858C>T	NM_199460.4	NP_955630.3:p.(Thr1953Met)	NC_000012.11:g.2794937C>T	(Likely) benign	4 labs	50b0df14db
21:46930004 COL18A1 CCT>C	21	46930004	46930006	CCT	C	COL18A1	c.3523_3524del	NM_001379500.1	NP_001366429.1:p.(Leu1175ValfsTer72)	NC_000021.8:g.46930005_46930006del	(Likely) pathogenic	4 labs	50bb485d67
1:74797238 TNNI3K T>A	1	74797238	74797238	T	A	TNNI3K	c.543+6T>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74797238T>A	VUS	2 labs	50c844d952
X:62885825 ARHGEF9 C>T	X	62885825	62885825	C	T	ARHGEF9	c.997G>A	NM_015185.3	NP_056000.1:p.(Gly333Ser)	NC_000023.10:g.62885825C>T	VUS	2 labs	5029eb6642
3:48604605 COL7A1 C>T	3	48604605	48604605	C	T	COL7A1	c.8065G>A	NM_000094.4	NP_000085.1:p.(Gly2689Arg)	NC_000003.11:g.48604605C>T	(Likely) pathogenic	2 labs	502dbd14b0
2:179498336 TTN C>T	2	179498336	179498336	C	T	TTN	c.42750G>A	NM_001267550.2	NP_001254479.2:p.(Leu14250=)	NC_000002.11:g.179498336C>T	(Likely) benign	2 labs	50d5eb082d
12:32977043 PKP2 C>T	12	32977043	32977043	C	T	PKP2	c.1742G>A	NM_004572.4	NP_004563.2:p.(Gly581Glu)	NC_000012.11:g.32977043C>T	VUS	2 labs	50d73e309b
12:5154462 KCNA5 T>C	12	5154462	5154462	T	C	KCNA5	c.1149T>C	NM_002234.4	NP_002225.2:p.(Gly383=)	NC_000012.11:g.5154462T>C	(Likely) benign	2 labs	50d832ab93
2:179410719 TTN G>A	2	179410719	179410719	G	A	TTN	c.95244C>T	NM_001267550.2	NP_001254479.2:p.(Arg31748=)	NC_000002.11:g.179410719G>A	(Likely) benign	3 labs	50dab44188
16:23634388 PALB2 T>C	16	23634388	23634388	T	C	PALB2	c.2898A>G	NM_024675.4	NP_078951.2:p.(Ile966Met)	NC_000016.9:g.23634388T>C	VUS	2 labs	50dc494c42
11:76827269 CAPN5 C>T	11	76827269	76827269	C	T	CAPN5	c.894-3C>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76827269C>T	(Likely) benign	2 labs	50e3cea8be
11:64573212 MEN1 G>A	11	64573212	64573212	G	A	MEN1	c.1095C>T	NM_130803.2	NP_570715.1:p.(Ile365=)	NC_000011.9:g.64573212G>A	(Likely) benign	2 labs	50f2dd7223
5:90016871 ADGRV1 G>A	5	90016871	90016871	G	A	ADGRV1	c.9743G>A	NM_032119.4	NP_115495.3:p.(Gly3248Asp)	NC_000005.9:g.90016871G>A	(Likely) benign	2 labs	505ace4816
10:69954271 MYPN TGGAGACGCA>T	10	69954271	69954282	TGGAGACGCA	T	MYPN	c.2193+5_2193+13del	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69954274_69954282del	(Likely) benign	3 labs	51172a9e78
1:237972323 RYR2 C>T	1	237972323	237972323	C	T	RYR2	c.14421C>T	NM_001035.3	NP_001026.2:p.(Asp4807=)	NC_000001.10:g.237972323C>T	(Likely) benign	2 labs	511cb7bb96
2:179446632 TTN C>A	2	179446632	179446632	C	A	TTN	c.66463+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179446632C>A	(Likely) pathogenic	2 labs	511f7c3947
18:29125936 DSG2 A>C	18	29125936	29125936	A	C	DSG2	c.2587A>C	NM_001943.5	NP_001934.2:p.(Met863Leu)	NC_000018.9:g.29125936A>C	(Likely) benign	5 labs	513f8bb14d
19:1223008 STK11 G>A	19	1223008	1223008	G	A	STK11	c.945G>A	NM_000455.5	NP_000446.1:p.(Pro315=)	NC_000019.9:g.1223008G>A	(Likely) benign	3 labs	513fa8288a
1:16377108 CLCNKB G>C	1	16377108	16377108	G	C	CLCNKB	c.1053+13G>C	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16377108G>C	(Likely) benign	2 labs	5098aabaa7
17:18052867 MYO15A T>C	17	18052867	18052867	T	C	MYO15A	c.7185T>C	NM_016239.4	NP_057323.3:p.(Phe2395=)	NC_000017.10:g.18052867T>C	(Likely) benign	2 labs	50a3673437
6:43612837 RSPH9 T>C	6	43612837	43612837	T	C	RSPH9	c.2T>C	NM_152732.5	NP_689945.2:p.(Met1?)	NC_000006.11:g.43612837T>C	(Likely) pathogenic	2 labs	50ac4fe03c
10:69934258 MYPN C>G	10	69934258	69934258	C	G	MYPN	c.2409C>G	NM_032578.4	NP_115967.2:p.(Ser803Arg)	NC_000010.10:g.69934258C>G	(Likely) benign	3 labs	51489298bc
16:23221183 SCNN1G A>G	16	23221183	23221183	A	G	SCNN1G	c.1176+14A>G	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23221183A>G	(Likely) benign	2 labs	50d306420c
2:179402474 TTN G>A	2	179402474	179402474	G	A	TTN	c.99460C>T	NM_001267550.2	NP_001254479.2:p.(Arg33154Cys)	NC_000002.11:g.179402474G>A	VUS	2 labs	514d0e555d
X:32509630 DMD C>T	X	32509630	32509630	C	T	DMD	c.2386G>A	NM_004006.3	NP_003997.2:p.(Val796Ile)	NC_000023.10:g.32509630C>T	(Likely) benign	4 labs	514ece62d2
1:43395635 SLC2A1 C>T	1	43395635	43395635	C	T	SLC2A1	c.588G>A	NM_006516.4	NP_006507.2:p.(Pro196=)	NC_000001.10:g.43395635C>T	(Likely) benign	5 labs	516109147c
16:3807376 CREBBP T>A	16	3807376	3807376	T	A	CREBBP	c.3611A>T	NM_004380.3	NP_004371.2:p.(Tyr1204Phe)	NC_000016.9:g.3807376T>A	(Likely) benign	2 labs	5168e01b50
6:32036404 TNXB C>T	6	32036404	32036404	C	T	TNXB	c.5983G>A	NM_019105.8	NP_061978.6:p.(Val1995Met)	NC_000006.11:g.32036404C>T	VUS	3 labs	50fe4dfcd7
17:56798178 RAD51C G>T	17	56798178	56798178	G	T	RAD51C	c.904+5G>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56798178G>T	(Likely) pathogenic	4 labs	50ff14012a
6:7584376 DSP C>G	6	7584376	7584376	C	G	DSP	c.6881C>G	NM_004415.4	NP_004406.2:p.(Ala2294Gly)	NC_000006.11:g.7584376C>G	(Likely) benign	6 labs	5188459e44
2:179605180 TTN C>A	2	179605180	179605180	C	A	TTN	c.12780G>T	NM_001267550.2	NP_001254479.2:p.(Ala4260=)	NC_000002.11:g.179605180C>A	(Likely) benign	5 labs	5195087e03
1:236925835 ACTN2 C>T	1	236925835	236925835	C	T	ACTN2	c.2601C>T	NM_001103.4	NP_001094.1:p.(Pro867=)	NC_000001.10:g.236925835C>T	(Likely) benign	5 labs	51ac83f01b
2:15618339 NBAS G>A	2	15618339	15618339	G	A	NBAS	c.1147+11C>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15618339G>A	(Likely) benign	2 labs	51ae8f0c28
16:68772239 CDH1 C>A	16	68772239	68772239	C	A	CDH1	c.88C>A	NM_004360.5	NP_004351.1:p.(Pro30Thr)	NC_000016.9:g.68772239C>A	(Likely) benign	4 labs	51b5b4dbac
11:71146886 DHCR7 C>G	11	71146886	71146886	C	G	DHCR7	c.964-1G>C	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71146886C>G	(Likely) pathogenic	6 labs	51bb312f83
2:179436257 TTN T>C	2	179436257	179436257	T	C	TTN	c.74602A>G	NM_001267550.2	NP_001254479.2:p.(Ile24868Val)	NC_000002.11:g.179436257T>C	(Likely) benign	5 labs	51c17713dd
20:10622501 JAG1 G>C	20	10622501	10622501	G	C	JAG1	c.2612C>G	NM_000214.3	NP_000205.1:p.(Pro871Arg)	NC_000020.10:g.10622501G>C	(Likely) benign	5 labs	51c7975f36
2:179454172 TTN A>G	2	179454172	179454172	A	G	TTN	c.57357T>C	NM_001256850.1	NP_001243779.1:p.(Val19119=)	NC_000002.11:g.179454172A>G	(Likely) benign	5 labs	51d809c0cb
12:21712574 GYS2 C>T	12	21712574	21712574	C	T	GYS2	c.1229+11G>A	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21712574C>T	(Likely) benign	2 labs	51532e7633
8:100830707 VPS13B A>G	8	100830707	100830707	A	G	VPS13B	c.8465A>G	NM_017890.5	NP_060360.3:p.(Tyr2822Cys)	NC_000008.10:g.100830707A>G	VUS	2 labs	5153985cfd
17:7750211 KDM6B A>ACCACCC	17	7750211	7750218	A	ACCACCC	KDM6B	c.788_793dup	NM_001080424.2	NP_001073893.1:p.(Pro263_Pro264dup)	NC_000017.10:g.7750213_7750218dup	(Likely) benign	2 labs	51e5890809
1:171083174 FMO3 C>T	1	171083174	171083174	C	T	FMO3	c.855C>T	NM_001002294.3	NP_001002294.1:p.(Asn285=)	NC_000001.10:g.171083174C>T	(Likely) benign	2 labs	51bddb0ce8
3:37067255 MLH1 G>A	3	37067255	37067255	G	A	MLH1	c.1166G>A	NM_000249.4	NP_000240.1:p.(Arg389Gln)	NC_000003.11:g.37067255G>A	(Likely) benign	3 labs	51c8b25875
11:47372898 MYBPC3 T>G	11	47372898	47372898	T	G	MYBPC3	c.184A>C	NM_000256.3	NP_000247.2:p.(Thr62Pro)	NC_000011.9:g.47372898T>G	(Likely) benign	4 labs	52126b0721
19:11170839 SMARCA4 T>C	19	11170839	11170839	T	C	SMARCA4	c.4887T>C	NM_001128844.3	NP_001122316.1:p.(Asp1629=)	NC_000019.9:g.11170839T>C	(Likely) benign	2 labs	51f5e6b00e
1:237801796 RYR2 G>A	1	237801796	237801796	G	A	RYR2	c.6928+4G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237801796G>A	(Likely) benign	5 labs	52330532ce
8:6302183 MCPH1 G>C	8	6302183	6302183	G	C	MCPH1	c.940G>C	NM_001172574.2	NP_001166045.2:p.(Asp314His)	NC_000008.10:g.6302183G>C	(Likely) benign	3 labs	523b0fb6e7
7:128470831 FLNC A>G	7	128470831	128470831	A	G	FLNC	c.140A>G	NM_001458.5	NP_001449.3:p.(Asn47Ser)	NC_000007.13:g.128470831A>G	VUS	2 labs	523e0a918e
2:179494968 TTN G>A	2	179494968	179494968	G	A	TTN	c.44281C>T	NM_001267550.2	NP_001254479.2:p.(Pro14761Ser)	NC_000002.11:g.179494968G>A	(Likely) benign	6 labs	524230ec3f
2:69573029 GFPT1 T>C	2	69573029	69573029	T	C	GFPT1	c.1105+7A>G	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69573029T>C	(Likely) benign	2 labs	524ab78ede
20:3870124 PANK2 G>C	20	3870124	3870124	G	C	PANK2	c.377G>C	NM_153638.4	NP_705902.2:p.(Gly126Ala)	NC_000020.10:g.3870124G>C	(Likely) benign	4 labs	524ada49a5
2:27589810 EIF2B4 T>C	2	27589810	27589810	T	C	EIF2B4	c.1014-7A>G	NM_001034116.2	NP_001029288.1:p.?	NC_000002.11:g.27589810T>C	(Likely) benign	2 labs	525995ca36
12:112888198 PTPN11 G>T	12	112888198	112888198	G	T	PTPN11	c.214G>T	NM_002834.5	NP_002825.3:p.(Ala72Ser)	NC_000012.11:g.112888198G>T	(Likely) pathogenic	3 labs	522372db47
14:74425907 COQ6 G>A	14	74425907	74425907	G	A	COQ6	c.688G>A	NM_182480.3	NP_872286.2:p.(Gly230Arg)	NC_000014.8:g.74425907G>A	(Likely) pathogenic	2 labs	523580598e
11:118307496 KMT2A C>A	11	118307496	118307496	C	A	KMT2A	c.269C>A	NM_001197104.2	NP_001184033.1:p.(Ser90Ter)	NC_000011.9:g.118307496C>A	(Likely) pathogenic	2 labs	523882b8bd
2:179456109 TTN C>T	2	179456109	179456109	C	T	TTN	c.60343G>A	NM_001267550.2	NP_001254479.2:p.(Asp20115Asn)	NC_000002.11:g.179456109C>T	VUS	2 labs	525348b4d4
15:73029819 BBS4 G>A	15	73029819	73029819	G	A	BBS4	c.1451G>A	NM_033028.5	NP_149017.2:p.(Gly484Asp)	NC_000015.9:g.73029819G>A	VUS	3 labs	526b7d3566
16:88502482 ZNF469 C>T	16	88502482	88502482	C	T	ZNF469	c.8604C>T	NM_001367624.2	NP_001354553.1:p.(Arg2868=)	NC_000016.9:g.88502482C>T	(Likely) benign	2 labs	526cda5df3
X:105278361 SERPINA7 C>A	X	105278361	105278361	C	A	SERPINA7	c.909G>T	NM_000354.6	NP_000345.2:p.(Leu303Phe)	NC_000023.10:g.105278361C>A	(Likely) benign	2 labs	527e3645f6
10:75394511 MYOZ1 A>G	10	75394511	75394511	A	G	MYOZ1	c.253-20T>C	NM_021245.4	NP_067068.1:p.?	NC_000010.10:g.75394511A>G	(Likely) benign	2 labs	52881715f0
7:103197465 RELN G>T	7	103197465	103197465	G	T	RELN	c.5756C>A	NM_005045.4	NP_005036.2:p.(Thr1919Asn)	NC_000007.13:g.103197465G>T	VUS	2 labs	52899e7155
1:3329209 PRDM16 C>T	1	3329209	3329209	C	T	PRDM16	c.2448C>T	NM_022114.4	NP_071397.3:p.(Asn816=)	NC_000001.10:g.3329209C>T	(Likely) benign	6 labs	52940c3f9d
1:26784371 DHDDS G>A	1	26784371	26784371	G	A	DHDDS	c.632G>A	NM_024887.4	NP_079163.2:p.(Arg211Gln)	NC_000001.10:g.26784371G>A	(Likely) pathogenic	3 labs	5296fd3f3c
11:2606475 KCNQ1 C>T	11	2606475	2606475	C	T	KCNQ1	c.1066C>T	NM_000218.3	NP_000209.2:p.(Gln356Ter)	NC_000011.9:g.2606475C>T	(Likely) pathogenic	2 labs	529901149a
17:41222939 BRCA1 A>G	17	41222939	41222939	A	G	BRCA1	c.4986+6T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41222939A>G	(Likely) pathogenic	4 labs	52a8cd9947
2:32361677 SPAST C>T	2	32361677	32361677	C	T	SPAST	c.1291C>T	NM_014946.4	NP_055761.2:p.(Arg431Ter)	NC_000002.11:g.32361677C>T	(Likely) pathogenic	2 labs	52ab308ecf
2:179431953 TTN T>G	2	179431953	179431953	T	G	TTN	c.78906A>C	NM_001267550.2	NP_001254479.2:p.(Glu26302Asp)	NC_000002.11:g.179431953T>G	VUS	2 labs	52cad44a77
X:152981108 BCAP31 G>A	X	152981108	152981108	G	A	BCAP31	c.230C>T	NM_001139441.1	NP_001132913.1:p.(Thr77Met)	NC_000023.10:g.152981108G>A	VUS	2 labs	52cfc6d6a7
5:218464 SDHA A>C	5	218464	218464	A	C	SDHA	c.-7A>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.218464A>C	(Likely) benign	2 labs	52e33ba7c9
11:47355540 MYBPC3 G>C	11	47355540	47355540	G	C	MYBPC3	c.2927C>G	NM_000256.3	NP_000247.2:p.(Pro976Arg)	NC_000011.9:g.47355540G>C	VUS	2 labs	52e84d9dc8
11:64525251 PYGM C>T	11	64525251	64525251	C	T	PYGM	c.660G>A	NM_005609.4	NP_005600.1:p.(Gln220=)	NC_000011.9:g.64525251C>T	VUS	4 labs	d9e2b97513
2:73828412 ALMS1 T>C	2	73828412	73828412	T	C	ALMS1	c.11966T>C	NM_015120.4	NP_055935.4:p.(Phe3989Ser)	NC_000002.11:g.73828412T>C	VUS	3 labs	52fdfe7a3b
19:11226800 LDLR C>T	19	11226800	11226800	C	T	LDLR	c.1617C>T	NM_000527.5	NP_000518.1:p.(Pro539=)	NC_000019.9:g.11226800C>T	(Likely) benign	2 labs	5300d06883
1:92944314 GFI1 C>CAGAGAGAG	1	92944314	92944351	C	CAGAGAGAG	GFI1	c.925-12_925-5dup	NM_001127215.3	NP_001120687.1:p.?	NC_000001.10:g.92944344_92944351dup	(Likely) benign	4 labs	530324e1b8
2:179567340 TTN G>A	2	179567340	179567340	G	A	TTN	c.30274C>T	NM_001267550.2	NP_001254479.2:p.(His10092Tyr)	NC_000002.11:g.179567340G>A	(Likely) benign	5 labs	530dec1801
9:98241320 PTCH1 C>T	9	98241320	98241320	C	T	PTCH1	c.1177G>A	NM_000264.5	NP_000255.2:p.(Ala393Thr)	NC_000009.11:g.98241320C>T	(Likely) benign	2 labs	531d737d99
1:237666583 RYR2 C>T	1	237666583	237666583	C	T	RYR2	c.2397-6C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237666583C>T	(Likely) benign	5 labs	531fa63360
4:120057776 MYOZ2 G>A	4	120057776	120057776	G	A	MYOZ2	c.76+20G>A	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057776G>A	(Likely) benign	3 labs	5323376921
2:179528377 TTN T>A	2	179528377	179528377	T	A	TTN	c.36509A>T	NM_001267550.2	NP_001254479.2:p.(Glu12170Val)	NC_000002.11:g.179528377T>A	(Likely) benign	6 labs	532344e751
11:114057675 ZBTB16 G>T	11	114057675	114057675	G	T	ZBTB16	c.1368G>T	NM_006006.6	NP_005997.2:p.(Ala456=)	NC_000011.9:g.114057675G>T	(Likely) benign	2 labs	532da4f61d
18:34205488 FHOD3 C>G	18	34205488	34205488	C	G	FHOD3	c.972C>G	NM_025135.5	NP_079411.2:p.(His324Gln)	NC_000018.9:g.34205488C>G	VUS	2 labs	533361cdcb
X:31792064 DMD T>C	X	31792064	31792064	T	C	DMD	c.7173+13A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31792064T>C	(Likely) benign	4 labs	53467b8c05
3:12458437 PPARG G>C	3	12458437	12458437	G	C	PPARG	c.1054G>C	NM_015869.5	NP_056953.2:p.(Glu352Gln)	NC_000003.11:g.12458437G>C	VUS	2 labs	5347a450f6
1:78407853 NEXN T>C	1	78407853	78407853	T	C	NEXN	c.1619T>C	NM_144573.4	NP_653174.3:p.(Met540Thr)	NC_000001.10:g.78407853T>C	VUS	3 labs	5349412148
16:78466521 WWOX C>T	16	78466521	78466521	C	T	WWOX	c.928C>T	NM_016373.4	NP_057457.1:p.(Arg310Cys)	NC_000016.9:g.78466521C>T	VUS	2 labs	534d1e2728
5:70945075 MCCC2 A>G	5	70945075	70945075	A	G	MCCC2	c.1368A>G	NM_022132.5	NP_071415.1:p.(Ala456=)	NC_000005.9:g.70945075A>G	(Likely) benign	3 labs	534d9ac078
13:32913690 BRCA2 C>T	13	32913690	32913690	C	T	BRCA2	c.5198C>T	NM_000059.4	NP_000050.3:p.(Ser1733Phe)	NC_000013.10:g.32913690C>T	(Likely) benign	5 labs	534fed68fe
3:48508607 TREX1 C>T	3	48508607	48508607	C	T	TREX1	c.553C>T	NM_033629.6	NP_338599.1:p.(Arg185Cys)	NC_000003.11:g.48508607C>T	VUS	3 labs	53533473b7
8:133920411 TG T>C	8	133920411	133920411	T	C	TG	c.3848-20T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133920411T>C	(Likely) benign	2 labs	5379e55583
1:10435324 KIF1B C>A	1	10435324	10435324	C	A	KIF1B	c.5163C>A	NM_015074.3	NP_055889.2:p.(Thr1721=)	NC_000001.10:g.10435324C>A	(Likely) benign	2 labs	537c05e5d1
8:104897852 RIMS2 A>G	8	104897852	104897852	A	G	RIMS2	c.449A>G	NM_014677.5	NP_055492.3:p.(Tyr150Cys)	NC_000008.10:g.104897852A>G	VUS	2 labs	538a83913c
2:21229715 APOB G>A	2	21229715	21229715	G	A	APOB	c.10025C>T	NM_000384.3	NP_000375.3:p.(Ser3342Phe)	NC_000002.11:g.21229715G>A	VUS	2 labs	539afe403d
11:65325325 LTBP3 C>CCAGCAGCAG	11	65325325	65325356	C	CCAGCAGCAG	LTBP3	c.97_105dup	NM_001130144.3	NP_001123616.1:p.(Leu33_Leu35dup)	NC_000011.9:g.65325348_65325356dup	(Likely) benign	4 labs	539f09bdac
1:156104779 LMNA G>T	1	156104779	156104779	G	T	LMNA	c.810+13G>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104779G>T	(Likely) benign	5 labs	53af946dbf
2:179650712 TTN T>C	2	179650712	179650712	T	C	TTN	c.2233A>G	NM_001267550.2	NP_001254479.2:p.(Lys745Glu)	NC_000002.11:g.179650712T>C	VUS	2 labs	53bcbc9182
14:102478356 DYNC1H1 G>A	14	102478356	102478356	G	A	DYNC1H1	c.6763G>A	NM_001376.5	NP_001367.2:p.(Asp2255Asn)	NC_000014.8:g.102478356G>A	VUS	3 labs	53c8b50522
2:179600300 TTN T>C	2	179600300	179600300	T	C	TTN	c.14873A>G	NM_001267550.2	NP_001254479.2:p.(Tyr4958Cys)	NC_000002.11:g.179600300T>C	VUS	3 labs	53c8f8483c
5:90024735 ADGRV1 G>A	5	90024735	90024735	G	A	ADGRV1	c.10411G>A	NM_032119.4	NP_115495.3:p.(Glu3471Lys)	NC_000005.9:g.90024735G>A	(Likely) benign	2 labs	53de5e38c5
2:179398819 TTN G>A	2	179398819	179398819	G	A	TTN	c.102523C>T	NM_001267550.2	NP_001254479.2:p.(Arg34175Ter)	NC_000002.11:g.179398819G>A	(Likely) pathogenic	2 labs	53df2a15a5
2:179395780 TTN T>G	2	179395780	179395780	T	G	TTN	c.105562A>C	NM_001267550.2	NP_001254479.2:p.(Ile35188Leu)	NC_000002.11:g.179395780T>G	VUS	5 labs	53e0b22997
1:169510380 F5 G>A	1	169510380	169510380	G	A	F5	c.3948C>T	NM_000130.5	NP_000121.2:p.(Leu1316=)	NC_000001.10:g.169510380G>A	(Likely) benign	2 labs	5401224d24
9:34489429 DNAI1 C>T	9	34489429	34489429	C	T	DNAI1	c.370C>T	NM_001281428.2	NP_001268357.1:p.(Arg124Cys)	NC_000009.11:g.34489429C>T	VUS	2 labs	540637ef98
3:9512152 SETD5 C>T	3	9512152	9512152	C	T	SETD5	c.2440C>T	NM_001349451.2	NP_001336380.1:p.(Arg814Ter)	NC_000003.11:g.9512152C>T	(Likely) pathogenic	2 labs	5408dd31bb
12:80761465 OTOGL G>A	12	80761465	80761465	G	A	OTOGL	c.6456G>A	NM_173591.7	NP_775862.4:p.(Thr2152=)	NC_000012.11:g.80761465G>A	(Likely) benign	2 labs	540c1ef065
10:112583189 RBM20 CTTTTTTTT>C	10	112583189	112583216	CTTTTTTTT	C	RBM20	c.3317-29_3317-22del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583209_112583216del	(Likely) benign	2 labs	541500e413
X:148585823 IDS T>C	X	148585823	148585823	T	C	IDS	c.104A>G	NM_000202.8	NP_000193.1:p.(Asp35Gly)	NC_000023.10:g.148585823T>C	(Likely) benign	2 labs	541dc1a7e5
6:133849966 EYA4 C>T	6	133849966	133849966	C	T	EYA4	c.*23C>T	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133849966C>T	(Likely) benign	2 labs	54285aa35c
3:47034046 NBEAL2 G>A	3	47034046	47034046	G	A	NBEAL2	c.1113+1G>A	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47034046G>A	(Likely) pathogenic	2 labs	5429e2bb96
14:76957887 ESRRB T>C	14	76957887	76957887	T	C	ESRRB	c.885T>C	NM_004452.4	NP_004443.3:p.(Tyr295=)	NC_000014.8:g.76957887T>C	(Likely) benign	2 labs	5435af1b39
6:152786447 SYNE1 T>C	6	152786447	152786447	T	C	SYNE1	c.1878A>G	NM_182961.4	NP_892006.3:p.(Gln626=)	NC_000006.11:g.152786447T>C	(Likely) benign	3 labs	5439296c2d
2:21238007 APOB G>T	2	21238007	21238007	G	T	APOB	c.3634C>A	NM_000384.3	NP_000375.3:p.(Leu1212Met)	NC_000002.11:g.21238007G>T	(Likely) benign	2 labs	5441e8cecc
14:74969592 LTBP2 C>T	14	74969592	74969592	C	T	LTBP2	c.4934G>A	NM_000428.3	NP_000419.1:p.(Arg1645Gln)	NC_000014.8:g.74969592C>T	VUS	2 labs	544da8cf60
5:53751988 HSPB3 T>C	5	53751988	53751988	T	C	HSPB3	c.369T>C	NM_006308.3	NP_006299.1:p.(Gly123=)	NC_000005.9:g.53751988T>C	(Likely) benign	3 labs	544ef80d73
22:38528894 PLA2G6 C>T	22	38528894	38528894	C	T	PLA2G6	c.1021G>A	NM_003560.4	NP_003551.2:p.(Ala341Thr)	NC_000022.10:g.38528894C>T	(Likely) pathogenic	2 labs	5452accd9b
14:23902293 MYH7 G>A	14	23902293	23902293	G	A	MYH7	c.345C>T	NM_000257.4	NP_000248.2:p.(Tyr115=)	NC_000014.8:g.23902293G>A	(Likely) benign	5 labs	54552197b4
12:7045891 ATN1 ACAGCAGCAGCAGCAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAGCAGCAGCAGCAG	A	ATN1	c.1488_1508del	NM_001007026.2	NP_001007027.1:p.(Gln496_Gln502del)	NC_000012.11:g.7045918_7045938del	(Likely) benign	2 labs	545a99da54
1:227174210 COQ8A T>C	1	227174210	227174210	T	C	COQ8A	c.1716T>C	NM_020247.5	NP_064632.2:p.(Ser572=)	NC_000001.10:g.227174210T>C	(Likely) benign	4 labs	545b0d2c61
3:33161899 CRTAP G>T	3	33161899	33161899	G	T	CRTAP	c.535G>T	NM_006371.5	NP_006362.1:p.(Glu179Ter)	NC_000003.11:g.33161899G>T	(Likely) pathogenic	2 labs	545cced9ef
2:167162344 SCN9A C>T	2	167162344	167162344	C	T	SCN9A	c.554G>A	NM_002977.3	NP_002968.1:p.(Arg185His)	NC_000002.11:g.167162344C>T	(Likely) benign	4 labs	54607d164a
14:76259417 TTLL5 A>G	14	76259417	76259417	A	G	TTLL5	c.3145A>G	NM_015072.5	NP_055887.3:p.(Ser1049Gly)	NC_000014.8:g.76259417A>G	VUS	2 labs	54617ccc86
2:179494085 TTN G>A	2	179494085	179494085	G	A	TTN	c.44367C>T	NM_001267550.2	NP_001254479.2:p.(Tyr14789=)	NC_000002.11:g.179494085G>A	(Likely) benign	2 labs	5470ec770a
17:41215947 BRCA1 C>T	17	41215947	41215947	C	T	BRCA1	c.5096G>A	NM_007294.4	NP_009225.1:p.(Arg1699Gln)	NC_000017.10:g.41215947C>T	(Likely) pathogenic	6 labs	5478fdeacb
X:32380996 DMD C>T	X	32380996	32380996	C	T	DMD	c.5234G>A	NM_004006.3	NP_003997.2:p.(Arg1745His)	NC_000023.10:g.32380996C>T	(Likely) benign	2 labs	547d775c07
2:179412829 TTN C>T	2	179412829	179412829	C	T	TTN	c.93524G>A	NM_001267550.2	NP_001254479.2:p.(Arg31175His)	NC_000002.11:g.179412829C>T	(Likely) benign	5 labs	547e3cb95b
8:133146630 KCNQ3 T>C	8	133146630	133146630	T	C	KCNQ3	c.1706A>G	NM_004519.4	NP_004510.1:p.(Asp569Gly)	NC_000008.10:g.133146630T>C	VUS	2 labs	549779bcd2
5:256451 SDHA C>T	5	256451	256451	C	T	SDHA	c.1911C>T	NM_004168.4	NP_004159.2:p.(Val637=)	NC_000005.9:g.256451C>T	(Likely) benign	4 labs	54ad7b9ef7
2:179600615 TTN T>G	2	179600615	179600615	T	G	TTN	c.14558A>C	NM_001267550.2	NP_001254479.2:p.(Glu4853Ala)	NC_000002.11:g.179600615T>G	VUS	3 labs	54b1876347
1:155874261 RIT1 C>G	1	155874261	155874261	C	G	RIT1	c.270G>C	NM_006912.6	NP_008843.1:p.(Met90Ile)	NC_000001.10:g.155874261C>G	(Likely) pathogenic	2 labs	54bcca1088
19:11222247 LDLR G>A	19	11222247	11222247	G	A	LDLR	c.1118G>A	NM_000527.5	NP_000518.1:p.(Gly373Asp)	NC_000019.9:g.11222247G>A	(Likely) pathogenic	2 labs	54c092cba1
19:33353041 SLC7A9 G>A	19	33353041	33353041	G	A	SLC7A9	c.687C>T	NM_001243036.2	NP_001229965.1:p.(Leu229=)	NC_000019.9:g.33353041G>A	(Likely) benign	2 labs	54cd66b702
6:7584173 DSP T>A	6	7584173	7584173	T	A	DSP	c.6678T>A	NM_004415.4	NP_004406.2:p.(Gly2226=)	NC_000006.11:g.7584173T>A	(Likely) benign	5 labs	54ce6d3537
10:89692977 PTEN T>G	10	89692977	89692977	T	G	PTEN	c.461T>G	NM_000314.8	NP_000305.3:p.(Phe154Cys)	NC_000010.10:g.89692977T>G	(Likely) pathogenic	2 labs	54d63d5ca8
17:41245027 BRCA1 G>A	17	41245027	41245027	G	A	BRCA1	c.2521C>T	NM_007294.4	NP_009225.1:p.(Arg841Trp)	NC_000017.10:g.41245027G>A	(Likely) benign	7 labs	54e27843b0
16:88505635 ZNF469 A>G	16	88505635	88505635	A	G	ZNF469	c.11757A>G	NM_001367624.2	NP_001354553.1:p.(Pro3919=)	NC_000016.9:g.88505635A>G	(Likely) benign	3 labs	54e9e9ac96
3:58098049 FLNB G>A	3	58098049	58098049	G	A	FLNB	c.2745+4G>A	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58098049G>A	(Likely) benign	2 labs	54f064e22b
18:21124907 NPC1 A>ACCC	18	21124907	21124916	A	ACCC	NPC1	c.1947+14_1947+16dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124914_21124916dup	(Likely) benign	3 labs	54f3693afd
3:48508344 TREX1 G>A	3	48508344	48508344	G	A	TREX1	c.290G>A	NM_033629.6	NP_338599.1:p.(Arg97His)	NC_000003.11:g.48508344G>A	(Likely) pathogenic	2 labs	54f6352b3c
6:44223123 SLC35B2 C>T	6	44223123	44223123	C	T	SLC35B2	c.619G>A	NM_178148.4	NP_835361.1:p.(Val207Ile)	NC_000006.11:g.44223123C>T	(Likely) benign	2 labs	54fd59e23a
2:170175334 LRP2 T>C	2	170175334	170175334	T	C	LRP2	c.248A>G	NM_004525.3	NP_004516.2:p.(Asn83Ser)	NC_000002.11:g.170175334T>C	(Likely) benign	2 labs	5504696859
22:20779822 SCARF2 G>C	22	20779822	20779822	G	C	SCARF2	c.2459C>G	NM_153334.7	NP_699165.3:p.(Ala820Gly)	NC_000022.10:g.20779822G>C	(Likely) benign	3 labs	5513ec3729
17:78071052 CCDC40 T>C	17	78071052	78071052	T	C	CCDC40	c.3030T>C	NM_017950.4	NP_060420.2:p.(Asp1010=)	NC_000017.10:g.78071052T>C	(Likely) benign	2 labs	551d039878
2:220284876 DES C>T	2	220284876	220284876	C	T	DES	c.638C>T	NM_001927.4	NP_001918.3:p.(Ala213Val)	NC_000002.11:g.220284876C>T	(Likely) benign	6 labs	554af808d4
19:5897012 NDUFA11 C>T	19	5897012	5897012	C	T	NDUFA11	c.98-4G>A	NM_175614.5	NP_783313.1:p.?	NC_000019.9:g.5897012C>T	(Likely) benign	2 labs	556a56da36
5:154287169 GEMIN5 AG>A	5	154287169	154287172	AG	A	GEMIN5	c.2376del	NM_015465.5	NP_056280.2:p.(Cys793ValfsTer35)	NC_000005.9:g.154287172del	(Likely) pathogenic	2 labs	55766ff471
3:12475578 PPARG C>T	3	12475578	12475578	C	T	PPARG	c.1362C>T	NM_138711.6	NP_619725.3:p.(Ile454=)	NC_000003.11:g.12475578C>T	(Likely) benign	2 labs	557e3d7371
3:49570200 DAG1 C>T	3	49570200	49570200	C	T	DAG1	c.2256C>T	NM_001165928.3	NP_001159400.2:p.(His752=)	NC_000003.11:g.49570200C>T	(Likely) benign	2 labs	558b727ad7
7:151257629 PRKAG2 G>A	7	151257629	151257629	G	A	PRKAG2	c.1659C>T	NM_016203.4	NP_057287.2:p.(Ala553=)	NC_000007.13:g.151257629G>A	(Likely) benign	3 labs	5591f9f060
2:179522262 TTN C>T	2	179522262	179522262	C	T	TTN	c.38001G>A	NM_001267550.2	NP_001254479.2:p.(Ser12667=)	NC_000002.11:g.179522262C>T	(Likely) benign	2 labs	5597a65271
4:151231371 LRBA T>C	4	151231371	151231371	T	C	LRBA	c.7849+10A>G	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151231371T>C	(Likely) benign	2 labs	55a4d4b2d2
1:94473864 ABCA4 C>T	1	94473864	94473864	C	T	ABCA4	c.5836-11G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94473864C>T	(Likely) benign	4 labs	55a774c143
14:95569761 DICER1 C>T	14	95569761	95569761	C	T	DICER1	c.3972G>A	NM_177438.3	NP_803187.1:p.(Lys1324=)	NC_000014.8:g.95569761C>T	(Likely) benign	6 labs	55aba2f430
12:32975524 PKP2 G>T	12	32975524	32975524	G	T	PKP2	c.1848C>A	NM_004572.4	NP_004563.2:p.(Tyr616Ter)	NC_000012.11:g.32975524G>T	(Likely) pathogenic	3 labs	55ad9814d3
2:48030612 MSH6 C>T	2	48030612	48030612	C	T	MSH6	c.3226C>T	NM_000179.3	NP_000170.1:p.(Arg1076Cys)	NC_000002.11:g.48030612C>T	(Likely) pathogenic	3 labs	55b9da6afa
12:111356937 MYL2 C>T	12	111356937	111356937	C	T	MYL2	c.64G>A	NM_000432.4	NP_000423.2:p.(Glu22Lys)	NC_000012.11:g.111356937C>T	(Likely) pathogenic	4 labs	55c5b14a2b
2:179631196 TTN C>G	2	179631196	179631196	C	G	TTN	c.9615G>C	NM_001267550.2	NP_001254479.2:p.(Met3205Ile)	NC_000002.11:g.179631196C>G	VUS	2 labs	55cdecb909
19:6696597 C3 G>A	19	6696597	6696597	G	A	C3	c.2863+7C>T	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6696597G>A	(Likely) benign	2 labs	55ce1f32ec
10:12131081 DHTKD1 T>G	10	12131081	12131081	T	G	DHTKD1	c.814T>G	NM_018706.7	NP_061176.4:p.(Tyr272Asp)	NC_000010.10:g.12131081T>G	(Likely) benign	3 labs	55ce69ed25
2:179462331 TTN C>G	2	179462331	179462331	C	G	TTN	c.57478G>C	NM_001267550.2	NP_001254479.2:p.(Val19160Leu)	NC_000002.11:g.179462331C>G	(Likely) benign	6 labs	55cff0a87e
17:41243788 BRCA1 TAGAC>T	17	41243788	41243797	TAGAC	T	BRCA1	c.3756_3759del	NM_007294.4	NP_009225.1:p.(Ser1253ArgfsTer10)	NC_000017.10:g.41243794_41243797del	(Likely) pathogenic	4 labs	55e38fbefc
6:66112409 EYS A>G	6	66112409	66112409	A	G	EYS	c.1146T>C	NM_001142800.2	NP_001136272.1:p.(Asn382=)	NC_000006.11:g.66112409A>G	(Likely) benign	2 labs	55eddc3d4b
13:110859053 COL4A1 C>G	13	110859053	110859053	C	G	COL4A1	c.817G>C	NM_001845.6	NP_001836.3:p.(Gly273Arg)	NC_000013.10:g.110859053C>G	VUS	2 labs	55eebd06f8
6:170599178 DLL1 C>A	6	170599178	170599178	C	A	DLL1	c.50G>T	NM_005618.4	NP_005609.3:p.(Cys17Phe)	NC_000006.11:g.170599178C>A	VUS	2 labs	55f1a442f4
X:153648432 TAFAZZIN C>T	X	153648432	153648432	C	T	TAFAZZIN	c.657C>T	NM_001303465.2	NP_001290394.1:p.(Val219=)	NC_000023.10:g.153648432C>T	(Likely) benign	3 labs	55fb4cbe8a
20:3870376 PANK2 G>GT	20	3870376	3870377	G	GT	PANK2	c.-414+2dup	NM_001324191.2	NP_001311120.1:p.?	NC_000020.10:g.3870377dup	VUS	2 labs	55ff41041c
11:2594182 KCNQ1 T>C	11	2594182	2594182	T	C	KCNQ1	c.887T>C	NM_000218.3	NP_000209.2:p.(Phe296Ser)	NC_000011.9:g.2594182T>C	(Likely) pathogenic	3 labs	561540a508
11:108143318 ATM T>C	11	108143318	108143318	T	C	ATM	c.3137T>C	NM_000051.4	NP_000042.3:p.(Leu1046Pro)	NC_000011.9:g.108143318T>C	(Likely) pathogenic	2 labs	5617a14033
2:179437627 TTN G>T	2	179437627	179437627	G	T	TTN	c.73232C>A	NM_001267550.2	NP_001254479.2:p.(Ala24411Asp)	NC_000002.11:g.179437627G>T	VUS	4 labs	561b820b29
10:69935235 MYPN T>C	10	69935235	69935235	T	C	MYPN	c.1821+17T>C	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69935235T>C	(Likely) benign	3 labs	561fae17e6
8:61655366 CHD7 C>T	8	61655366	61655366	C	T	CHD7	c.1375C>T	NM_017780.4	NP_060250.2:p.(Arg459Cys)	NC_000008.10:g.61655366C>T	VUS	3 labs	5623e81bd9
17:17696401 RAI1 G>A	17	17696401	17696401	G	A	RAI1	c.139G>A	NM_030665.4	NP_109590.3:p.(Ala47Thr)	NC_000017.10:g.17696401G>A	(Likely) benign	2 labs	5626806d58
3:38640439 SCN5A C>A	3	38640439	38640439	C	A	SCN5A	c.1993G>T	NM_198056.3	NP_932173.1:p.(Ala665Ser)	NC_000003.11:g.38640439C>A	VUS	4 labs	563a776016
12:50348078 AQP2 T>C	12	50348078	50348078	T	C	AQP2	c.501T>C	NM_000486.6	NP_000477.1:p.(Ser167=)	NC_000012.11:g.50348078T>C	(Likely) benign	2 labs	565123c6e6
12:22035732 ABCC9 G>A	12	22035732	22035732	G	A	ABCC9	c.1987C>T	NM_005691.4	NP_005682.2:p.(Arg663Cys)	NC_000012.11:g.22035732G>A	VUS	3 labs	5675e43be1
9:131375701 SPTAN1 A>G	9	131375701	131375701	A	G	SPTAN1	c.5085A>G	NM_001130438.3	NP_001123910.1:p.(Leu1695=)	NC_000009.11:g.131375701A>G	(Likely) benign	2 labs	5662faa632
2:179399067 TTN C>T	2	179399067	179399067	C	T	TTN	c.102275G>A	NM_001267550.2	NP_001254479.2:p.(Arg34092His)	NC_000002.11:g.179399067C>T	VUS	6 labs	56641eb3d2
5:40981689 C7 C>A	5	40981689	40981689	C	A	C7	c.*14C>A	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40981689C>A	(Likely) benign	2 labs	566f226c19
20:33586951 MYH7B TACAG>T	20	33586951	33586960	TACAG	T	MYH7B	c.4415_4418del	NM_020884.5	NP_065935.3:p.(Thr1472SerfsTer5)	NC_000020.10:g.33586957_33586960del	VUS	2 labs	5682bb3582
4:187004500 TLR3 C>T	4	187004500	187004500	C	T	TLR3	c.1660C>T	NM_003265.3	NP_003256.1:p.(Pro554Ser)	NC_000004.11:g.187004500C>T	(Likely) pathogenic	2 labs	56949adf5b
16:70874111 HYDIN C>G	16	70874111	70874111	C	G	HYDIN	c.12899G>C	NM_001270974.2	NP_001257903.1:p.(Cys4300Ser)	NC_000016.9:g.70874111C>G	VUS	3 labs	5694c02225
10:71142420 HK1 G>A	10	71142420	71142420	G	A	HK1	c.1407G>A	NM_033500.2	NP_277035.2:p.(Lys469=)	NC_000010.10:g.71142420G>A	(Likely) benign	2 labs	56b397e905
6:7556063 DSP C>T	6	7556063	7556063	C	T	DSP	c.273+10C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7556063C>T	(Likely) benign	6 labs	56b63c3404
1:158619728 SPTA1 A>C	1	158619728	158619728	A	C	SPTA1	c.3487T>G	NM_003126.4	NP_003117.2:p.(Ser1163Ala)	NC_000001.10:g.158619728A>C	(Likely) benign	2 labs	56c4694348
17:41244936 BRCA1 G>A	17	41244936	41244936	G	A	BRCA1	c.2612C>T	NM_007294.4	NP_009225.1:p.(Pro871Leu)	NC_000017.10:g.41244936G>A	(Likely) benign	6 labs	56c94a9b34
19:11240245 LDLR A>C	19	11240245	11240245	A	C	LDLR	c.2446A>C	NM_000527.5	NP_000518.1:p.(Lys816Gln)	NC_000019.9:g.11240245A>C	VUS	2 labs	56e078a707
15:43893072 STRC G>A	15	43893072	43893072	G	A	STRC	c.4842C>T	NM_153700.2	NP_714544.1:p.(Phe1614=)	NC_000015.9:g.43893072G>A	(Likely) benign	2 labs	56e4fbd097
10:26357748 MYO3A G>A	10	26357748	26357748	G	A	MYO3A	c.1105G>A	NM_017433.5	NP_059129.3:p.(Val369Ile)	NC_000010.10:g.26357748G>A	(Likely) benign	2 labs	56e90aac14
7:16460893 CRPPA T>G	7	16460893	16460893	T	G	CRPPA	c.55A>C	NM_001101426.4	NP_001094896.1:p.(Ser19Arg)	NC_000007.13:g.16460893T>G	(Likely) benign	4 labs	56e92f8818
6:49412399 MMUT G>A	6	49412399	49412399	G	A	MMUT	c.1629C>T	NM_000255.4	NP_000246.2:p.(Ser543=)	NC_000006.11:g.49412399G>A	(Likely) benign	2 labs	56ebaf6054
14:21882491 CHD8 T>C	14	21882491	21882491	T	C	CHD8	c.2111A>G	NM_001170629.2	NP_001164100.1:p.(Lys704Arg)	NC_000014.8:g.21882491T>C	VUS	2 labs	56efae5fac
11:125880416 CDON G>A	11	125880416	125880416	G	A	CDON	c.1372C>T	NM_016952.5	NP_058648.4:p.(Arg458Ter)	NC_000011.9:g.125880416G>A	VUS	2 labs	570166df1f
14:23893311 MYH7 G>T	14	23893311	23893311	G	T	MYH7	c.2727C>A	NM_000257.4	NP_000248.2:p.(Ile909=)	NC_000014.8:g.23893311G>T	(Likely) benign	4 labs	570601c67a
6:107956095 SOBP A>G	6	107956095	107956095	A	G	SOBP	c.2047A>G	NM_018013.4	NP_060483.3:p.(Ser683Gly)	NC_000006.11:g.107956095A>G	(Likely) benign	2 labs	571c6f52cf
13:108863003 LIG4 GA>G	13	108863003	108863007	GA	G	LIG4	c.613del	NM_001352599.2	NP_001339528.1:p.(Ser205LeufsTer29)	NC_000013.10:g.108863007del	(Likely) pathogenic	2 labs	57353f7303
X:48934174 WDR45 G>A	X	48934174	48934174	G	A	WDR45	c.354C>T	NM_007075.4	NP_009006.2:p.(Ile118=)	NC_000023.10:g.48934174G>A	(Likely) benign	4 labs	5739ec0879
3:39431081 SLC25A38 G>A	3	39431081	39431081	G	A	SLC25A38	c.165G>A	NM_017875.4	NP_060345.2:p.(Leu55=)	NC_000003.11:g.39431081G>A	(Likely) benign	2 labs	573e91d92b
9:135173454 SETX C>CA	9	135173454	135173455	C	CA	SETX	c.5781+12dup	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135173455dup	(Likely) benign	3 labs	5747efadb8
7:98557117 TRRAP AGTGC>A	7	98557117	98557122	AGTGC	A	TRRAP	c.6414+6_6414+9del	NM_003496.4	NP_003487.1:p.?	NC_000007.13:g.98557119_98557122del	(Likely) benign	2 labs	574f0fbac9
2:32353499 SPAST C>T	2	32353499	32353499	C	T	SPAST	c.1196C>T	NM_014946.4	NP_055761.2:p.(Ser399Leu)	NC_000002.11:g.32353499C>T	(Likely) pathogenic	3 labs	5750f564b6
9:6558693 GLDC T>C	9	6558693	6558693	T	C	GLDC	c.1927-9A>G	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6558693T>C	(Likely) benign	3 labs	5752bc82ee
4:79385723 FRAS1 G>C	4	79385723	79385723	G	C	FRAS1	c.7015G>C	NM_025074.7	NP_079350.5:p.(Asp2339His)	NC_000004.11:g.79385723G>C	VUS	3 labs	575852c946
X:32613940 DMD G>T	X	32613940	32613940	G	T	DMD	c.1536C>A	NM_004006.3	NP_003997.2:p.(His512Gln)	NC_000023.10:g.32613940G>T	VUS	2 labs	575dfb21a2
6:51944734 PKHD1 AC>A	6	51944734	51944735	AC	A	PKHD1	c.353del	NM_138694.4	NP_619639.3:p.(Ser118IlefsTer35)	NC_000006.11:g.51944735del	(Likely) pathogenic	5 labs	5761bbeaff
2:167163482 SCN9A T>G	2	167163482	167163482	T	G	SCN9A	c.361A>C	NM_002977.3	NP_002968.1:p.(Lys121Gln)	NC_000002.11:g.167163482T>G	VUS	2 labs	577a7b1e4a
4:146560724 MMAA C>T	4	146560724	146560724	C	T	MMAA	c.433C>T	NM_172250.3	NP_758454.1:p.(Arg145Ter)	NC_000004.11:g.146560724C>T	(Likely) pathogenic	6 labs	577e12a37e
7:151962290 KMT2C C>G	7	151962290	151962290	C	G	KMT2C	c.1017G>C	NM_170606.3	NP_733751.2:p.(Lys339Asn)	NC_000007.13:g.151962290C>G	(Likely) benign	2 labs	5780be76f0
20:57428804 GNAS A>G	20	57428804	57428804	A	G	GNAS	c.484A>G	NM_080425.4	NP_536350.2:p.(Met162Val)	NC_000020.10:g.57428804A>G	(Likely) benign	4 labs	57816bea83
5:89938869 ADGRV1 T>A	5	89938869	89938869	T	A	ADGRV1	c.2553+11T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938869T>A	(Likely) benign	3 labs	578597bdda
4:1803564 FGFR3 C>T	4	1803564	1803564	C	T	FGFR3	c.742C>T	NM_000142.5	NP_000133.1:p.(Arg248Cys)	NC_000004.11:g.1803564C>T	(Likely) pathogenic	5 labs	57921f441c
1:237765333 RYR2 G>A	1	237765333	237765333	G	A	RYR2	c.4605G>A	NM_001035.3	NP_001026.2:p.(Pro1535=)	NC_000001.10:g.237765333G>A	(Likely) benign	4 labs	5794d61fbe
8:55541513 RP1 T>C	8	55541513	55541513	T	C	RP1	c.5071T>C	NM_006269.2	NP_006260.1:p.(Ser1691Pro)	NC_000008.10:g.55541513T>C	(Likely) benign	2 labs	57a3cefcd4
19:36212516 KMT2B C>CACAGCCACAGCT	19	36212516	36212528	C	CACAGCCACAGCT	KMT2B	c.2268_2279dup	NM_014727.3	NP_055542.1:p.(Gln759_Pro762dup)	NC_000019.9:g.36212517_36212528dup	(Likely) benign	3 labs	57b9e3b8e4
14:23871728 MYH6 G>A	14	23871728	23871728	G	A	MYH6	c.1086C>T	NM_002471.4	NP_002462.2:p.(Asn362=)	NC_000014.8:g.23871728G>A	(Likely) benign	2 labs	57de8bfa71
8:141034189 TRAPPC9 A>T	8	141034189	141034189	A	T	TRAPPC9	c.2557-13T>A	NM_031466.8	NP_113654.5:p.?	NC_000008.10:g.141034189A>T	(Likely) benign	2 labs	57e40a45ec
11:1861760 TNNI2 T>C	11	1861760	1861760	T	C	TNNI2	c.60T>C	NM_001145829.2	NP_001139301.1:p.(Ser20=)	NC_000011.9:g.1861760T>C	(Likely) benign	2 labs	57f51b9cef
16:9857547 GRIN2A C>T	16	9857547	9857547	C	T	GRIN2A	c.3854G>A	NM_000833.5	NP_000824.1:p.(Arg1285Lys)	NC_000016.9:g.9857547C>T	(Likely) benign	2 labs	57fbdc7b80
X:153171698 AVPR2 GCGCCGCAGGGGA>G	X	153171698	153171715	GCGCCGCAGGGGA	G	AVPR2	c.744_755del	NM_001146151.3	NP_001139623.1:p.(Arg249_Arg252del)	NC_000023.10:g.153171704_153171715del	(Likely) benign	4 labs	58095cfdeb
10:55591313 PCDH15 G>A	10	55591313	55591313	G	A	PCDH15	c.3999-20C>T	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55591313G>A	(Likely) benign	2 labs	580f307d63
6:42975009 PPP2R5D G>A	6	42975009	42975009	G	A	PPP2R5D	c.145G>A	NM_001270476.2	NP_001257405.1:p.(Glu49Lys)	NC_000006.11:g.42975009G>A	(Likely) pathogenic	4 labs	581116b162
8:143961005 CYP11B1 T>C	8	143961005	143961005	T	C	CYP11B1	c.225A>G	NM_000497.4	NP_000488.3:p.(Leu75=)	NC_000008.10:g.143961005T>C	(Likely) benign	2 labs	5815b61c61
2:179665423 TTN A>G	2	179665423	179665423	A	G	TTN	c.296-14T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179665423A>G	(Likely) benign	6 labs	5825e1d40f
6:152456276 SYNE1 T>G	6	152456276	152456276	T	G	SYNE1	c.25607A>C	NM_033071.4	NP_149062.2:p.(Asp8536Ala)	NC_000006.11:g.152456276T>G	VUS	4 labs	5852582dfc
14:102514328 DYNC1H1 C>T	14	102514328	102514328	C	T	DYNC1H1	c.13181C>T	NM_001376.5	NP_001367.2:p.(Thr4394Met)	NC_000014.8:g.102514328C>T	(Likely) benign	2 labs	585cf52e10
12:103240734 PAH A>G	12	103240734	103240734	A	G	PAH	c.913-5T>C	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103240734A>G	(Likely) benign	2 labs	5865846c5b
16:85689421 GSE1 C>T	16	85689421	85689421	C	T	GSE1	c.575C>T	NM_001134473.3	NP_001127945.1:p.(Ala192Val)	NC_000016.9:g.85689421C>T	VUS	2 labs	587a105fd2
17:41223242 BRCA1 G>C	17	41223242	41223242	G	C	BRCA1	c.4689C>G	NM_007294.4	NP_009225.1:p.(Tyr1563Ter)	NC_000017.10:g.41223242G>C	(Likely) pathogenic	5 labs	5881242a37
2:179472320 TTN G>A	2	179472320	179472320	G	A	TTN	c.53095C>T	NM_001267550.2	NP_001254479.2:p.(Arg17699Cys)	NC_000002.11:g.179472320G>A	VUS	2 labs	588a4841ea
17:41203121 BRCA1 A>G	17	41203121	41203121	A	G	BRCA1	c.5291T>C	NM_007294.4	NP_009225.1:p.(Leu1764Pro)	NC_000017.10:g.41203121A>G	(Likely) pathogenic	2 labs	58a2a68138
2:167055204 SCN9A T>A	2	167055204	167055204	T	A	SCN9A	c.5912A>T	NM_002977.3	NP_002968.1:p.(Asp1971Val)	NC_000002.11:g.167055204T>A	VUS	3 labs	58a490b52f
14:23894581 MYH7 T>A	14	23894581	23894581	T	A	MYH7	c.2333A>T	NM_000257.4	NP_000248.2:p.(Asp778Val)	NC_000014.8:g.23894581T>A	(Likely) pathogenic	2 labs	58ca36a48c
2:179440215 TTN G>A	2	179440215	179440215	G	A	TTN	c.70644C>T	NM_001267550.2	NP_001254479.2:p.(Thr23548=)	NC_000002.11:g.179440215G>A	(Likely) benign	5 labs	58cfb35e52
16:929647 LMF1 C>T	16	929647	929647	C	T	LMF1	c.820G>A	NM_022773.4	NP_073610.2:p.(Glu274Lys)	NC_000016.9:g.929647C>T	VUS	2 labs	58d0889a89
12:939302 WNK1 A>G	12	939302	939302	A	G	WNK1	c.1287A>G	NM_001184985.2	NP_001171914.1:p.(Ala429=)	NC_000012.11:g.939302A>G	(Likely) benign	3 labs	58df51283d
11:47367757 MYBPC3 C>T	11	47367757	47367757	C	T	MYBPC3	c.1090+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367757C>T	(Likely) pathogenic	2 labs	58f11bec33
6:76596728 MYO6 C>T	6	76596728	76596728	C	T	MYO6	c.2658+17C>T	NM_004999.4	NP_004990.3:p.?	NC_000006.11:g.76596728C>T	(Likely) benign	2 labs	58f5bf7d5f
18:29099805 DSG2 C>A	18	29099805	29099805	C	A	DSG2	c.121C>A	NM_001943.5	NP_001934.2:p.(His41Asn)	NC_000018.9:g.29099805C>A	(Likely) benign	2 labs	590261123b
2:47635615 MSH2 G>A	2	47635615	47635615	G	A	MSH2	c.287G>A	NM_000251.3	NP_000242.1:p.(Arg96His)	NC_000002.11:g.47635615G>A	(Likely) benign	2 labs	5931e52aea
11:120998942 TECTA C>T	11	120998942	120998942	C	T	TECTA	c.2256C>T	NM_005422.4	NP_005413.2:p.(Ile752=)	NC_000011.9:g.120998942C>T	(Likely) benign	2 labs	593c222f9e
2:179547503 TTN T>G	2	179547503	179547503	T	G	TTN	c.33015A>C	NM_001267550.2	NP_001254479.2:p.(Pro11005=)	NC_000002.11:g.179547503T>G	(Likely) benign	2 labs	5945530717
14:76548973 IFT43 C>T	14	76548973	76548973	C	T	IFT43	c.397C>T	NM_052873.3	NP_443105.2:p.(Arg133Trp)	NC_000014.8:g.76548973C>T	VUS	2 labs	594a232cf8
5:112178805 APC G>A	5	112178805	112178805	G	A	APC	c.7514G>A	NM_000038.6	NP_000029.2:p.(Arg2505Gln)	NC_000005.9:g.112178805G>A	(Likely) benign	5 labs	594b80c502
17:10544416 MYH3 G>T	17	10544416	10544416	G	T	MYH3	c.2151C>A	NM_002470.4	NP_002461.2:p.(Gly717=)	NC_000017.10:g.10544416G>T	(Likely) benign	3 labs	595350869c
2:163133194 IFIH1 T>C	2	163133194	163133194	T	C	IFIH1	c.2304+3A>G	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163133194T>C	VUS	2 labs	5960dd9df2
11:73850653 C2CD3 G>A	11	73850653	73850653	G	A	C2CD3	c.704C>T	NM_001286577.2	NP_001273506.1:p.(Pro235Leu)	NC_000011.9:g.73850653G>A	(Likely) benign	2 labs	596cf954bf
10:68138902 CTNNA3 T>C	10	68138902	68138902	T	C	CTNNA3	c.1732+8A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68138902T>C	(Likely) benign	4 labs	596d45149e
15:58853109 LIPC A>G	15	58853109	58853109	A	G	LIPC	c.1098A>G	NM_000236.3	NP_000227.2:p.(Thr366=)	NC_000015.9:g.58853109A>G	(Likely) benign	2 labs	597992e672
X:99596953 PCDH19 G>A	X	99596953	99596953	G	A	PCDH19	c.2796C>T	NM_001184880.2	NP_001171809.1:p.(Asn932=)	NC_000023.10:g.99596953G>A	(Likely) benign	3 labs	597c578c70
2:179615887 TTN T>C	2	179615887	179615887	T	C	TTN	c.11240A>G	NM_133379.5	NP_596870.2:p.(Asp3747Gly)	NC_000002.11:g.179615887T>C	(Likely) benign	2 labs	597d6e0cc1
3:33055721 GLB1 A>G	3	33055721	33055721	A	G	GLB1	c.1561T>C	NM_000404.4	NP_000395.3:p.(Cys521Arg)	NC_000003.11:g.33055721A>G	(Likely) benign	4 labs	5989c61c6e
10:43604498 RET C>A	10	43604498	43604498	C	A	RET	c.1083C>A	NM_020975.6	NP_066124.1:p.(Asn361Lys)	NC_000010.10:g.43604498C>A	VUS	2 labs	598f001cb5
7:128488989 FLNC G>T	7	128488989	128488989	G	T	FLNC	c.4880G>T	NM_001458.5	NP_001449.3:p.(Arg1627Leu)	NC_000007.13:g.128488989G>T	VUS	2 labs	59993c840b
11:17427028 ABCC8 C>T	11	17427028	17427028	C	T	ABCC8	c.3399+13G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17427028C>T	(Likely) benign	2 labs	59a19b2b73
3:132408107 NPHP3 CCT>C	3	132408107	132408109	CCT	C	NPHP3	c.2694-2_2694-1del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132408108_132408109del	(Likely) pathogenic	6 labs	59a59e6140
3:37045916 MLH1 G>C	3	37045916	37045916	G	C	MLH1	c.331G>C	NM_000249.4	NP_000240.1:p.(Ala111Pro)	NC_000003.11:g.37045916G>C	(Likely) pathogenic	2 labs	59a7f40bac
15:89384975 ACAN C>G	15	89384975	89384975	C	G	ACAN	c.634C>G	NM_013227.4	NP_037359.3:p.(Pro212Ala)	NC_000015.9:g.89384975C>G	VUS	2 labs	59aaf197c0
2:179296905 PRKRA G>A	2	179296905	179296905	G	A	PRKRA	c.828C>T	NM_001139517.1	NP_001132989.1:p.(Ser276=)	NC_000002.11:g.179296905G>A	(Likely) benign	2 labs	59b8558d92
14:23862571 MYH6 G>C	14	23862571	23862571	G	C	MYH6	c.3085C>G	NM_002471.4	NP_002462.2:p.(Leu1029Val)	NC_000014.8:g.23862571G>C	VUS	2 labs	5a68a52ca7
16:31196402 FUS T>TGGC	16	31196402	31196422	T	TGGC	FUS	c.684_686dup	NM_004960.4	NP_004951.1:p.(Gly231dup)	NC_000016.9:g.31196420_31196422dup	(Likely) benign	4 labs	59c909dffb
19:45409167 APOE C>G	19	45409167	45409167	C	G	APOE	c.-24+69C>G	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45409167C>G	(Likely) benign	2 labs	59ced8fe94
15:51829824 DMXL2 C>T	15	51829824	51829824	C	T	DMXL2	c.1478G>A	NM_001174116.3	NP_001167587.1:p.(Arg493Gln)	NC_000015.9:g.51829824C>T	VUS	2 labs	59d20dbe5c
2:179452804 TTN C>T	2	179452804	179452804	C	T	TTN	c.63330G>A	NM_001267550.2	NP_001254479.2:p.(Ala21110=)	NC_000002.11:g.179452804C>T	(Likely) benign	4 labs	59d37d21e6
12:13717508 GRIN2B G>A	12	13717508	13717508	G	A	GRIN2B	c.2664C>T	NM_000834.5	NP_000825.2:p.(Thr888=)	NC_000012.11:g.13717508G>A	(Likely) benign	2 labs	59d8958578
12:22068620 ABCC9 A>G	12	22068620	22068620	A	G	ABCC9	c.798T>C	NM_020297.4	NP_064693.2:p.(Asp266=)	NC_000012.11:g.22068620A>G	(Likely) benign	2 labs	59db63e7ca
22:29091788 CHEK2 T>C	22	29091788	29091788	T	C	CHEK2	c.1169A>G	NM_007194.4	NP_009125.1:p.(Tyr390Cys)	NC_000022.10:g.29091788T>C	(Likely) pathogenic	5 labs	59f41b6b33
10:21098828 NEBL CT>C	10	21098828	21098832	CT	C	NEBL	c.2519-2del	NM_006393.3	NP_006384.1:p.?	NC_000010.10:g.21098832del	(Likely) benign	2 labs	5a0087308c
11:125831701 CDON G>A	11	125831701	125831701	G	A	CDON	c.3549C>T	NM_001243597.2	NP_001230526.1:p.(Val1183=)	NC_000011.9:g.125831701G>A	(Likely) benign	2 labs	5a02e4db76
2:167128931 SCN9A G>A	2	167128931	167128931	G	A	SCN9A	c.3296C>T	NM_002977.3	NP_002968.1:p.(Ser1099Leu)	NC_000002.11:g.167128931G>A	VUS	3 labs	5a02e6707d
17:72305534 DNAI2 C>T	17	72305534	72305534	C	T	DNAI2	c.1347+7C>T	NM_023036.6	NP_075462.3:p.?	NC_000017.10:g.72305534C>T	(Likely) benign	2 labs	5a13116798
12:33049457 PKP2 C>A	12	33049457	33049457	C	A	PKP2	c.209G>T	NM_004572.4	NP_004563.2:p.(Ser70Ile)	NC_000012.11:g.33049457C>A	(Likely) benign	6 labs	5a25606173
12:7045891 ATN1 A>ACAGCAG	12	7045891	7045938	A	ACAGCAG	ATN1	c.1503_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln501_Gln502dup)	NC_000012.11:g.7045933_7045938dup	(Likely) benign	4 labs	5a2a5b078b
16:89350771 ANKRD11 CTTTG>C	16	89350771	89350780	CTTTG	C	ANKRD11	c.2175_2178del	NM_013275.6	NP_037407.4:p.(Asn725LysfsTer23)	NC_000016.9:g.89350777_89350780del	(Likely) pathogenic	3 labs	5a2c700cb9
7:91674302 AKAP9 G>A	7	91674302	91674302	G	A	AKAP9	c.5163-20G>A	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91674302G>A	(Likely) benign	2 labs	5a2e856d69
2:166901840 SCN1A A>G	2	166901840	166901840	A	G	SCN1A	c.1378-3T>C	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166901840A>G	(Likely) benign	2 labs	5a43dc07ef
2:179397612 TTN T>C	2	179397612	179397612	T	C	TTN	c.103730A>G	NM_001267550.2	NP_001254479.2:p.(Gln34577Arg)	NC_000002.11:g.179397612T>C	VUS	3 labs	5a45568337
X:6451809 VCX3A TCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCCTCCAC>T	X	6451809	6451923	TCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCCTCCAC	T	VCX3A	c.478_537del	NM_016379.4	NP_057463.2:p.(Val160_Glu179del)	NC_000023.10:g.6451864_6451923del	VUS	2 labs	5a4e7fe04e
9:138676328 KCNT1 GCTCCCTCCCTCCCTCCCTCC>G	9	138676328	138676374	GCTCCCTCCCTCCCTCCCTCC	G	KCNT1	c.2944-26_2944-7del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138676355_138676374del	(Likely) benign	2 labs	5a5647b4c1
3:47043538 NBEAL2 C>T	3	47043538	47043538	C	T	NBEAL2	c.4911C>T	NM_015175.3	NP_055990.1:p.(Ser1637=)	NC_000003.11:g.47043538C>T	(Likely) benign	2 labs	5a61f7b169
11:66299515 BBS1 A>G	11	66299515	66299515	A	G	BBS1	c.*7A>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66299515A>G	(Likely) benign	3 labs	5a6717eac0
20:2398017 TGM6 G>A	20	2398017	2398017	G	A	TGM6	c.1476G>A	NM_198994.3	NP_945345.2:p.(Lys492=)	NC_000020.10:g.2398017G>A	(Likely) benign	3 labs	5a72ee90df
13:32937353 BRCA2 A>G	13	32937353	32937353	A	G	BRCA2	c.8014A>G	NM_000059.4	NP_000050.3:p.(Ile2672Val)	NC_000013.10:g.32937353A>G	(Likely) benign	2 labs	5a77790c2c
9:132585058 TOR1A G>A	9	132585058	132585058	G	A	TOR1A	c.246C>T	NM_000113.3	NP_000104.1:p.(Ala82=)	NC_000009.11:g.132585058G>A	(Likely) benign	2 labs	5a78394577
1:55521713 PCSK9 C>A	1	55521713	55521713	C	A	PCSK9	c.847C>A	NM_174936.4	NP_777596.2:p.(Leu283Met)	NC_000001.10:g.55521713C>A	VUS	2 labs	5a7a823258
8:100874154 VPS13B G>A	8	100874154	100874154	G	A	VPS13B	c.11270G>A	NM_017890.5	NP_060360.3:p.(Arg3757Gln)	NC_000008.10:g.100874154G>A	(Likely) benign	4 labs	5a82ac061f
10:97392809 ALDH18A1 A>G	10	97392809	97392809	A	G	ALDH18A1	c.718-3T>C	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97392809A>G	(Likely) benign	2 labs	5a8404fa79
2:179517019 TTN A>T	2	179517019	179517019	A	T	TTN	c.39183T>A	NM_001267550.2	NP_001254479.2:p.(Pro13061=)	NC_000002.11:g.179517019A>T	(Likely) benign	5 labs	5a88e415dd
11:6412984 SMPD1 G>A	11	6412984	6412984	G	A	SMPD1	c.689G>A	NM_001318087.2	NP_001305016.1:p.(Arg230His)	NC_000011.9:g.6412984G>A	VUS	2 labs	5a897f2f7d
2:179447736 TTN C>T	2	179447736	179447736	C	T	TTN	c.65794G>A	NM_001267550.2	NP_001254479.2:p.(Gly21932Arg)	NC_000002.11:g.179447736C>T	VUS	4 labs	5a8e25607f
13:32907475 BRCA2 T>G	13	32907475	32907475	T	G	BRCA2	c.1860T>G	NM_000059.4	NP_000050.3:p.(Phe620Leu)	NC_000013.10:g.32907475T>G	(Likely) benign	3 labs	5aa2392bdc
10:104357064 SUFU C>T	10	104357064	104357064	C	T	SUFU	c.910+14C>T	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104357064C>T	(Likely) benign	2 labs	5aa7b16631
15:72642859 HEXA C>T	15	72642859	72642859	C	T	HEXA	c.805G>A	NM_000520.6	NP_000511.2:p.(Gly269Ser)	NC_000015.9:g.72642859C>T	(Likely) pathogenic	2 labs	5acc3801dd
11:107992325 ACAT1 T>A	11	107992325	107992325	T	A	ACAT1	c.-9T>A	NM_000019.4	NP_000010.1:p.?	NC_000011.9:g.107992325T>A	(Likely) benign	2 labs	5ae0e720d5
11:57576944 CTNND1 C>G	11	57576944	57576944	C	G	CTNND1	c.2435+6C>G	NM_001085458.2	NP_001078927.1:p.?	NC_000011.9:g.57576944C>G	(Likely) benign	3 labs	5ae8fb70cb
12:53045626 KRT2 T>TGCCGCCTCCAAAGCC	12	53045626	53045629	T	TGCCGCCTCCAAAGCC	KRT2	c.300_301insGGCTTTGGAGGCGGC	NM_000423.3	NP_000414.2:p.(Ser100_Ser101insGlyPheGlyGlyGly)	NC_000012.11:g.53045628_53045629insCGCCTCCAAAGCCGC	(Likely) benign	2 labs	5aee51e6b9
2:179570048 TTN CTCT>C	2	179570048	179570057	CTCT	C	TTN	c.29454_29456del	NM_001267550.2	NP_001254479.2:p.(Glu9820del)	NC_000002.11:g.179570055_179570057del	VUS	2 labs	5aef25c6eb
16:23625320 PALB2 CT>C	16	23625320	23625322	CT	C	PALB2	c.3201+4del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23625322del	(Likely) pathogenic	2 labs	5af2688368
13:32911978 BRCA2 TG>T	13	32911978	32911979	TG	T	BRCA2	c.3487del	NM_000059.4	NP_000050.3:p.(Asp1163IlefsTer5)	NC_000013.10:g.32911979del	(Likely) pathogenic	4 labs	5b1922210a
13:32936794 BRCA2 T>C	13	32936794	32936794	T	C	BRCA2	c.7940T>C	NM_000059.4	NP_000050.3:p.(Leu2647Pro)	NC_000013.10:g.32936794T>C	(Likely) pathogenic	2 labs	5b2fc4340a
14:23898993 MYH7 C>T	14	23898993	23898993	C	T	MYH7	c.1129G>A	NM_000257.4	NP_000248.2:p.(Gly377Ser)	NC_000014.8:g.23898993C>T	VUS	2 labs	5b361eabe5
11:47363535 MYBPC3 C>T	11	47363535	47363535	C	T	MYBPC3	c.1790+7G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363535C>T	(Likely) benign	4 labs	5b4314e6bc
7:128488740 FLNC C>T	7	128488740	128488740	C	T	FLNC	c.4706C>T	NM_001458.5	NP_001449.3:p.(Ala1569Val)	NC_000007.13:g.128488740C>T	VUS	2 labs	5b5977f90e
8:143960597 CYP11B1 G>A	8	143960597	143960597	G	A	CYP11B1	c.246C>T	NM_000497.4	NP_000488.3:p.(Asp82=)	NC_000008.10:g.143960597G>A	(Likely) benign	2 labs	5b49c0f0a8
2:220420785 OBSL1 G>A	2	220420785	220420785	G	A	OBSL1	c.4566C>T	NM_015311.3	NP_056126.1:p.(Cys1522=)	NC_000002.11:g.220420785G>A	(Likely) benign	2 labs	5b52cda3ac
2:179412307 TTN C>T	2	179412307	179412307	C	T	TTN	c.94046G>A	NM_001267550.2	NP_001254479.2:p.(Arg31349His)	NC_000002.11:g.179412307C>T	(Likely) benign	5 labs	5b5392fa2a
11:71150031 DHCR7 C>T	11	71150031	71150031	C	T	DHCR7	c.725G>A	NM_001360.3	NP_001351.2:p.(Arg242His)	NC_000011.9:g.71150031C>T	(Likely) pathogenic	3 labs	5b58266b32
7:103206001 RELN GA>G	7	103206001	103206012	GA	G	RELN	c.4937-4del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206012del	(Likely) benign	2 labs	5b5edc7f54
2:73675669 ALMS1 T>G	2	73675669	73675669	T	G	ALMS1	c.2018T>G	NM_015120.4	NP_055935.4:p.(Val673Gly)	NC_000002.11:g.73675669T>G	(Likely) benign	3 labs	5b5f534471
14:75022332 LTBP2 G>A	14	75022332	75022332	G	A	LTBP2	c.895C>T	NM_000428.3	NP_000419.1:p.(Arg299Ter)	NC_000014.8:g.75022332G>A	(Likely) pathogenic	2 labs	5b7446dae4
14:77493647 IRF2BPL A>AGCG	14	77493647	77493676	A	AGCG	IRF2BPL	c.486_488dup	NM_024496.4	NP_078772.1:p.(Ala164dup)	NC_000014.8:g.77493674_77493676dup	(Likely) benign	2 labs	5b7ff0ac5b
12:111350928 MYL2 G>A	12	111350928	111350928	G	A	MYL2	c.374C>T	NM_000432.4	NP_000423.2:p.(Thr125Met)	NC_000012.11:g.111350928G>A	VUS	2 labs	5b8985911d
16:84216015 TAF1C G>A	16	84216015	84216015	G	A	TAF1C	c.514C>T	NM_005679.4	NP_005670.4:p.(Arg172Cys)	NC_000016.9:g.84216015G>A	VUS	2 labs	5b913d1c6b
12:112926890 PTPN11 A>G	12	112926890	112926890	A	G	PTPN11	c.1510A>G	NM_002834.5	NP_002825.3:p.(Met504Val)	NC_000012.11:g.112926890A>G	(Likely) pathogenic	3 labs	5b91729b04
17:44108993 KANSL1 G>A	17	44108993	44108993	G	A	KANSL1	c.3167C>T	NM_001193466.2	NP_001180395.1:p.(Ala1056Val)	NC_000017.10:g.44108993G>A	VUS	2 labs	5b983cd208
1:94474328 ABCA4 T>C	1	94474328	94474328	T	C	ABCA4	c.5814A>G	NM_000350.3	NP_000341.2:p.(Leu1938=)	NC_000001.10:g.94474328T>C	(Likely) benign	4 labs	5b9d5726f9
10:54011419 PRKG1 T>C	10	54011419	54011419	T	C	PRKG1	c.1166T>C	NM_006258.4	NP_006249.1:p.(Val389Ala)	NC_000010.10:g.54011419T>C	VUS	2 labs	5bb82f8c17
5:147506583 SPINK5 A>G	5	147506583	147506583	A	G	SPINK5	c.2995A>G	NM_001127698.2	NP_001121170.1:p.(Lys999Glu)	NC_000005.9:g.147506583A>G	(Likely) benign	4 labs	5bc9c0a70a
19:4102449 MAP2K2 G>A	19	4102449	4102449	G	A	MAP2K2	c.453C>T	NM_030662.4	NP_109587.1:p.(Asp151=)	NC_000019.9:g.4102449G>A	(Likely) benign	2 labs	5bd33acdf5
1:55524237 PCSK9 G>A	1	55524237	55524237	G	A	PCSK9	c.1420G>A	NM_174936.4	NP_777596.2:p.(Val474Ile)	NC_000001.10:g.55524237G>A	(Likely) benign	2 labs	5bd374cfad
5:6600043 NSUN2 C>T	5	6600043	6600043	C	T	NSUN2	c.2300G>A	NM_017755.6	NP_060225.4:p.(Arg767Gln)	NC_000005.9:g.6600043C>T	(Likely) benign	2 labs	5bd661232e
6:80196848 LCA5 C>T	6	80196848	80196848	C	T	LCA5	c.1967G>A	NM_181714.4	NP_859065.2:p.(Gly656Asp)	NC_000006.11:g.80196848C>T	(Likely) benign	2 labs	5bea0780ed
10:92675633 ANKRD1 A>T	10	92675633	92675633	A	T	ANKRD1	c.656T>A	NM_014391.3	NP_055206.2:p.(Leu219His)	NC_000010.10:g.92675633A>T	VUS	2 labs	5bf06bfcb0
17:45368337 ITGB3 A>C	17	45368337	45368337	A	C	ITGB3	c.1143A>C	NM_000212.3	NP_000203.2:p.(Val381=)	NC_000017.10:g.45368337A>C	(Likely) benign	2 labs	5bfe29fb6d
8:141461116 TRAPPC9 C>T	8	141461116	141461116	C	T	TRAPPC9	c.357G>A	NM_031466.8	NP_113654.5:p.(Gly119=)	NC_000008.10:g.141461116C>T	(Likely) benign	2 labs	5bfea48962
17:41219631 BRCA1 T>A	17	41219631	41219631	T	A	BRCA1	c.5068A>T	NM_007294.4	NP_009225.1:p.(Lys1690Ter)	NC_000017.10:g.41219631T>A	(Likely) pathogenic	2 labs	5c0285dc2e
10:69926175 MYPN A>G	10	69926175	69926175	A	G	MYPN	c.843A>G	NM_001256268.2	NP_001243197.1:p.(Lys281=)	NC_000010.10:g.69926175A>G	(Likely) benign	4 labs	5c0582196c
2:21234944 APOB C>T	2	21234944	21234944	C	T	APOB	c.4796G>A	NM_000384.3	NP_000375.3:p.(Arg1599His)	NC_000002.11:g.21234944C>T	VUS	2 labs	5c073be56b
18:19752072 GATA6 T>TACC	18	19752072	19752103	T	TACC	GATA6	c.996_998dup	NM_005257.6	NP_005248.2:p.(His333dup)	NC_000018.9:g.19752101_19752103dup	(Likely) benign	2 labs	5c0d8c6e5c
5:176721198 NSD1 T>C	5	176721198	176721198	T	C	NSD1	c.6829T>C	NM_022455.5	NP_071900.2:p.(Leu2277=)	NC_000005.9:g.176721198T>C	(Likely) benign	2 labs	5c19625a1f
14:23886702 MYH7 C>T	14	23886702	23886702	C	T	MYH7	c.4353+10G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886702C>T	(Likely) benign	6 labs	5c246d69fa
13:100962156 PCCA A>G	13	100962156	100962156	A	G	PCCA	c.1423A>G	NM_000282.4	NP_000273.2:p.(Ile475Val)	NC_000013.10:g.100962156A>G	(Likely) benign	3 labs	5c3947e862
4:980896 IDUA C>A	4	980896	980896	C	A	IDUA	c.24C>A	NM_000203.5	NP_000194.2:p.(Ala8=)	NC_000004.11:g.980896C>A	(Likely) benign	4 labs	5c3a30a9ac
10:97369939 ALDH18A1 C>T	10	97369939	97369939	C	T	ALDH18A1	c.2206+15G>A	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97369939C>T	(Likely) benign	2 labs	5c4b118296
2:179593503 TTN G>T	2	179593503	179593503	G	T	TTN	c.19150C>A	NM_001267550.2	NP_001254479.2:p.(Pro6384Thr)	NC_000002.11:g.179593503G>T	(Likely) benign	6 labs	5c4d3ea1c6
9:129453229 LMX1B A>G	9	129453229	129453229	A	G	LMX1B	c.441A>G	NM_001174146.2	NP_001167617.1:p.(Glu147=)	NC_000009.11:g.129453229A>G	(Likely) benign	2 labs	5c503525c6
6:131900390 ARG1 C>T	6	131900390	131900390	C	T	ARG1	c.294C>T	NM_001244438.2	NP_001231367.1:p.(Asn98=)	NC_000006.11:g.131900390C>T	(Likely) benign	2 labs	5c714d00a0
22:29083926 CHEK2 C>A	22	29083926	29083926	C	A	CHEK2	c.1591G>T	NM_007194.4	NP_009125.1:p.(Glu531Ter)	NC_000022.10:g.29083926C>A	VUS	2 labs	5c7ba50abd
1:116243877 CASQ2 G>A	1	116243877	116243877	G	A	CASQ2	c.1185C>T	NM_001232.4	NP_001223.2:p.(Asp395=)	NC_000001.10:g.116243877G>A	(Likely) benign	3 labs	5c7ec3b239
7:94053642 COL1A2 A>G	7	94053642	94053642	A	G	COL1A2	c.2566-6A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94053642A>G	(Likely) benign	3 labs	5c906d70f8
3:48608072 COL7A1 C>T	3	48608072	48608072	C	T	COL7A1	c.7344G>A	NM_000094.4	NP_000085.1:p.(Val2448=)	NC_000003.11:g.48608072C>T	(Likely) pathogenic	2 labs	5c93e80bc2
2:179638463 TTN A>G	2	179638463	179638463	A	G	TTN	c.7331-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179638463A>G	(Likely) benign	3 labs	5c9e3e1841
6:49403302 MMUT G>A	6	49403302	49403302	G	A	MMUT	c.1991C>T	NM_000255.4	NP_000246.2:p.(Ala664Val)	NC_000006.11:g.49403302G>A	VUS	3 labs	5ca6a441ed
17:41245155 BRCA1 G>A	17	41245155	41245155	G	A	BRCA1	c.2393C>T	NM_007294.4	NP_009225.1:p.(Pro798Leu)	NC_000017.10:g.41245155G>A	(Likely) benign	5 labs	5cbd64366b
16:89614511 SPG7 C>T	16	89614511	89614511	C	T	SPG7	c.1653C>T	NM_003119.4	NP_003110.1:p.(Arg551=)	NC_000016.9:g.89614511C>T	(Likely) benign	2 labs	5cc5d8beb1
3:11059028 SLC6A1 G>A	3	11059028	11059028	G	A	SLC6A1	c.131G>A	NM_003042.4	NP_003033.3:p.(Arg44Gln)	NC_000003.11:g.11059028G>A	(Likely) pathogenic	2 labs	5cdae88b3f
1:6880244 CAMTA1 G>A	1	6880244	6880244	G	A	CAMTA1	c.49G>A	NM_015215.4	NP_056030.1:p.(Val17Ile)	NC_000001.10:g.6880244G>A	(Likely) benign	2 labs	5ce44aeeda
11:47362755 MYBPC3 C>T	11	47362755	47362755	C	T	MYBPC3	c.1831G>A	NM_000256.3	NP_000247.2:p.(Glu611Lys)	NC_000011.9:g.47362755C>T	(Likely) pathogenic	4 labs	5cef930913
X:152991478 ABCD1 C>G	X	152991478	152991478	C	G	ABCD1	c.757C>G	NM_000033.4	NP_000024.2:p.(Leu253Val)	NC_000023.10:g.152991478C>G	(Likely) benign	4 labs	5cf3565f4a
20:31023472 ASXL1 A>G	20	31023472	31023472	A	G	ASXL1	c.2957A>G	NM_015338.6	NP_056153.2:p.(Asn986Ser)	NC_000020.10:g.31023472A>G	(Likely) benign	4 labs	5cf6a26169
1:237580411 RYR2 C>T	1	237580411	237580411	C	T	RYR2	c.836C>T	NM_001035.3	NP_001026.2:p.(Thr279Met)	NC_000001.10:g.237580411C>T	VUS	3 labs	5cff0fcc6b
10:69926325 MYPN C>T	10	69926325	69926325	C	T	MYPN	c.1875C>T	NM_032578.4	NP_115967.2:p.(Pro625=)	NC_000010.10:g.69926325C>T	(Likely) benign	2 labs	611c4eb480
5:67589663 PIK3R1 G>T	5	67589663	67589663	G	T	PIK3R1	c.1425+1G>T	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67589663G>T	(Likely) pathogenic	3 labs	5cff75b1e1
1:237586435 RYR2 C>T	1	237586435	237586435	C	T	RYR2	c.892C>T	NM_001035.3	NP_001026.2:p.(Arg298Cys)	NC_000001.10:g.237586435C>T	VUS	2 labs	5d069759bf
13:110866265 COL4A1 G>A	13	110866265	110866265	G	A	COL4A1	c.234+8C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110866265G>A	(Likely) benign	4 labs	5d093b361e
10:112540884 RBM20 C>A	10	112540884	112540884	C	A	RBM20	c.517C>A	NM_001134363.3	NP_001127835.2:p.(Pro173Thr)	NC_000010.10:g.112540884C>A	(Likely) benign	5 labs	5d0cf0e376
13:32914950 BRCA2 C>T	13	32914950	32914950	C	T	BRCA2	c.6458C>T	NM_000059.4	NP_000050.3:p.(Pro2153Leu)	NC_000013.10:g.32914950C>T	(Likely) benign	2 labs	5d1bf2eeb9
6:85469998 TBX18 C>A	6	85469998	85469998	C	A	TBX18	c.574G>T	NM_001080508.3	NP_001073977.1:p.(Val192Leu)	NC_000006.11:g.85469998C>A	(Likely) benign	2 labs	5d270ea248
17:42992620 GFAP G>A	17	42992620	42992620	G	A	GFAP	c.235C>T	NM_002055.5	NP_002046.1:p.(Arg79Cys)	NC_000017.10:g.42992620G>A	(Likely) pathogenic	2 labs	5d44a5e6ad
2:179438077 TTN C>T	2	179438077	179438077	C	T	TTN	c.72782G>A	NM_001267550.2	NP_001254479.2:p.(Arg24261Gln)	NC_000002.11:g.179438077C>T	(Likely) benign	4 labs	5d5428d4df
1:43888546 SZT2 C>T	1	43888546	43888546	C	T	SZT2	c.2029C>T	NM_015284.4	NP_056099.3:p.(Arg677Trp)	NC_000001.10:g.43888546C>T	VUS	2 labs	5d559c18f8
9:139402715 NOTCH1 G>A	9	139402715	139402715	G	A	NOTCH1	c.3294C>T	NM_017617.5	NP_060087.3:p.(Ser1098=)	NC_000009.11:g.139402715G>A	(Likely) benign	6 labs	5d55c64245
10:73121913 SLC29A3 A>G	10	73121913	73121913	A	G	SLC29A3	c.976A>G	NM_018344.6	NP_060814.4:p.(Ile326Val)	NC_000010.10:g.73121913A>G	(Likely) benign	2 labs	5d5f7ae320
16:23647326 PALB2 C>A	16	23647326	23647326	C	A	PALB2	c.541G>T	NM_024675.4	NP_078951.2:p.(Glu181Ter)	NC_000016.9:g.23647326C>A	(Likely) pathogenic	2 labs	618f40be3a
18:28681903 DSC2 T>C	18	28681903	28681903	T	C	DSC2	c.32A>G	NM_004949.5	NP_004940.1:p.(Asn11Ser)	NC_000018.9:g.28681903T>C	(Likely) benign	6 labs	5d78c5a5a2
3:48630971 COL7A1 T>C	3	48630971	48630971	T	C	COL7A1	c.425A>G	NM_000094.3	NP_000085.1:p.(Lys142Arg)	NC_000003.11:g.48630971T>C	(Likely) pathogenic	2 labs	5d7a2edbd7
17:70118951 SOX9 C>T	17	70118951	70118951	C	T	SOX9	c.523C>T	NM_000346.4	NP_000337.1:p.(Gln175Ter)	NC_000017.10:g.70118951C>T	(Likely) pathogenic	2 labs	5d7b835f58
11:111779500 CRYAB G>T	11	111779500	111779500	G	T	CRYAB	c.516C>A	NM_001885.3	NP_001876.1:p.(Ala172=)	NC_000011.9:g.111779500G>T	(Likely) benign	4 labs	5d7e4848be
11:108143299 ATM A>G	11	108143299	108143299	A	G	ATM	c.3118A>G	NM_000051.4	NP_000042.3:p.(Met1040Val)	NC_000011.9:g.108143299A>G	(Likely) benign	6 labs	5d8acb5b43
1:155874261 RIT1 C>A	1	155874261	155874261	C	A	RIT1	c.270G>T	NM_006912.6	NP_008843.1:p.(Met90Ile)	NC_000001.10:g.155874261C>A	(Likely) pathogenic	2 labs	5d936a08db
10:123274836 FGFR2 A>G	10	123274836	123274836	A	G	FGFR2	c.1085-3T>C	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123274836A>G	(Likely) benign	2 labs	5d9480b2f3
19:12995709 KLF1 C>T	19	12995709	12995709	C	T	KLF1	c.1079G>A	NM_006563.5	NP_006554.1:p.(Arg360His)	NC_000019.9:g.12995709C>T	VUS	2 labs	5da4cee0b9
17:10542886 MYH3 T>C	17	10542886	10542886	T	C	MYH3	c.2916A>G	NM_002470.4	NP_002461.2:p.(Thr972=)	NC_000017.10:g.10542886T>C	(Likely) benign	3 labs	5daae12194
6:121768598 GJA1 G>A	6	121768598	121768598	G	A	GJA1	c.605G>A	NM_000165.5	NP_000156.1:p.(Arg202His)	NC_000006.11:g.121768598G>A	(Likely) pathogenic	2 labs	5dad434208
20:30414454 MYLK2 G>A	20	30414454	30414454	G	A	MYLK2	c.1019G>A	NM_033118.4	NP_149109.1:p.(Arg340His)	NC_000020.10:g.30414454G>A	VUS	2 labs	5db16a2aa1
11:64572602 MEN1 G>A	11	64572602	64572602	G	A	MEN1	c.1269C>T	NM_130803.2	NP_570715.1:p.(Asp423=)	NC_000011.9:g.64572602G>A	(Likely) benign	3 labs	5dbf79bad8
21:47552209 COL6A2 G>A	21	47552209	47552209	G	A	COL6A2	c.2803G>A	NM_001849.4	NP_001840.3:p.(Gly935Arg)	NC_000021.8:g.47552209G>A	(Likely) benign	4 labs	5dc1147779
15:73615486 HCN4 G>A	15	73615486	73615486	G	A	HCN4	c.2948C>T	NM_005477.3	NP_005468.1:p.(Ser983Phe)	NC_000015.9:g.73615486G>A	VUS	2 labs	5dd317edde
1:120467985 NOTCH2 T>C	1	120467985	120467985	T	C	NOTCH2	c.4454A>G	NM_024408.4	NP_077719.2:p.(Asn1485Ser)	NC_000001.10:g.120467985T>C	(Likely) benign	2 labs	5df264382b
2:179397891 TTN G>A	2	179397891	179397891	G	A	TTN	c.103451C>T	NM_001267550.2	NP_001254479.2:p.(Ala34484Val)	NC_000002.11:g.179397891G>A	VUS	2 labs	5df67175bd
12:49438745 KMT2D G>C	12	49438745	49438745	G	C	KMT2D	c.4745C>G	NM_003482.4	NP_003473.3:p.(Pro1582Arg)	NC_000012.11:g.49438745G>C	VUS	2 labs	5e007aebeb
5:112175770 APC G>A	5	112175770	112175770	G	A	APC	c.4479G>A	NM_000038.6	NP_000029.2:p.(Thr1493=)	NC_000005.9:g.112175770G>A	(Likely) benign	3 labs	5e016dd7a5
1:154544532 CHRNB2 G>A	1	154544532	154544532	G	A	CHRNB2	c.1233G>A	NM_000748.3	NP_000739.1:p.(Ala411=)	NC_000001.10:g.154544532G>A	(Likely) benign	3 labs	5e0a96e76d
2:179497502 TTN T>A	2	179497502	179497502	T	A	TTN	c.43231A>T	NM_001267550.2	NP_001254479.2:p.(Ile14411Phe)	NC_000002.11:g.179497502T>A	VUS	2 labs	5e1d598b4e
12:111353556 MYL2 A>G	12	111353556	111353556	A	G	MYL2	c.132T>C	NM_000432.4	NP_000423.2:p.(Ile44=)	NC_000012.11:g.111353556A>G	(Likely) benign	5 labs	5e2c1d8d64
11:47460306 RAPSN A>G	11	47460306	47460306	A	G	RAPSN	c.1143T>C	NM_005055.5	NP_005046.2:p.(Pro381=)	NC_000011.9:g.47460306A>G	(Likely) benign	2 labs	5e2e30a4f0
17:41246812 BRCA1 A>C	17	41246812	41246812	A	C	BRCA1	c.736T>G	NM_007294.4	NP_009225.1:p.(Leu246Val)	NC_000017.10:g.41246812A>C	(Likely) benign	7 labs	5e33c7145d
5:40964852 C7 A>C	5	40964852	40964852	A	C	C7	c.1759A>C	NM_000587.4	NP_000578.2:p.(Thr587Pro)	NC_000005.9:g.40964852A>C	(Likely) benign	2 labs	5e3ca20227
10:50680422 ERCC6 C>T	10	50680422	50680422	C	T	ERCC6	c.2924G>A	NM_000124.4	NP_000115.1:p.(Arg975Gln)	NC_000010.10:g.50680422C>T	VUS	3 labs	5e3f3e5e32
7:138417718 ATP6V0A4 A>G	7	138417718	138417718	A	G	ATP6V0A4	c.1812T>C	NM_020632.3	NP_065683.2:p.(His604=)	NC_000007.13:g.138417718A>G	(Likely) benign	2 labs	5e53454361
6:16327864 ATXN1 G>GTGC	6	16327864	16327908	G	GTGC	ATXN1	c.675_677dup	NM_000332.3	NP_000323.2:p.(Gln225dup)	NC_000006.11:g.16327906_16327908dup	(Likely) benign	5 labs	5e5820e6b0
11:108151895 ATM G>A	11	108151895	108151895	G	A	ATM	c.3576G>A	NM_000051.4	NP_000042.3:p.(Lys1192=)	NC_000011.9:g.108151895G>A	(Likely) pathogenic	4 labs	5e5b108f9c
2:179412799 TTN C>T	2	179412799	179412799	C	T	TTN	c.93554G>A	NM_001267550.2	NP_001254479.2:p.(Arg31185His)	NC_000002.11:g.179412799C>T	VUS	3 labs	5e67293ff5
17:41244949 BRCA1 G>A	17	41244949	41244949	G	A	BRCA1	c.2599C>T	NM_007294.4	NP_009225.1:p.(Gln867Ter)	NC_000017.10:g.41244949G>A	(Likely) pathogenic	3 labs	5e69d75c52
12:12006412 ETV6 G>A	12	12006412	12006412	G	A	ETV6	c.380G>A	NM_001987.5	NP_001978.1:p.(Arg127Gln)	NC_000012.11:g.12006412G>A	(Likely) benign	2 labs	5e70aa7af9
X:13778851 OFD1 G>A	X	13778851	13778851	G	A	OFD1	c.2260+12G>A	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13778851G>A	(Likely) benign	3 labs	5e75a443a2
3:58145263 FLNB G>A	3	58145263	58145263	G	A	FLNB	c.6982-18G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58145263G>A	(Likely) benign	2 labs	5e785f12b1
12:14018777 GRIN2B G>C	12	14018777	14018777	G	C	GRIN2B	c.366C>G	NM_000834.5	NP_000825.2:p.(Pro122=)	NC_000012.11:g.14018777G>C	(Likely) benign	2 labs	5e7969d2f3
18:25583028 CDH2 G>C	18	25583028	25583028	G	C	CDH2	c.953C>G	NM_001792.5	NP_001783.2:p.(Pro318Arg)	NC_000018.9:g.25583028G>C	VUS	2 labs	5e7ad77b51
12:124209328 ATP6V0A2 G>T	12	124209328	124209328	G	T	ATP6V0A2	c.422G>T	NM_012463.4	NP_036595.2:p.(Arg141Leu)	NC_000012.11:g.124209328G>T	(Likely) benign	2 labs	5e85724fa3
3:8787540 CAV3 G>A	3	8787540	8787540	G	A	CAV3	c.443G>A	NM_033337.3	NP_203123.1:p.(Arg148Gln)	NC_000003.11:g.8787540G>A	(Likely) benign	3 labs	5e8f0d3d65
15:85402523 ALPK3 C>T	15	85402523	85402523	C	T	ALPK3	c.3867C>T	NM_020778.5	NP_065829.4:p.(Ser1289=)	NC_000015.9:g.85402523C>T	(Likely) benign	3 labs	5e9c09ed28
22:19905748 TXNRD2 G>A	22	19905748	19905748	G	A	TXNRD2	c.375-8C>T	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19905748G>A	(Likely) benign	2 labs	5ea7068b7c
11:68704264 IGHMBP2 C>T	11	68704264	68704264	C	T	IGHMBP2	c.2316C>T	NM_002180.3	NP_002171.2:p.(Ser772=)	NC_000011.9:g.68704264C>T	(Likely) benign	3 labs	5ec7933282
2:170099446 LRP2 T>G	2	170099446	170099446	T	G	LRP2	c.3667+20A>C	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170099446T>G	(Likely) benign	2 labs	5eca31fc6c
2:215876166 ABCA12 A>T	2	215876166	215876166	A	T	ABCA12	c.2329T>A	NM_173076.3	NP_775099.2:p.(Ser777Thr)	NC_000002.11:g.215876166A>T	(Likely) benign	2 labs	5ece1545f8
19:55665514 TNNI3 G>A	19	55665514	55665514	G	A	TNNI3	c.433C>T	NM_000363.5	NP_000354.4:p.(Arg145Trp)	NC_000019.9:g.55665514G>A	(Likely) pathogenic	4 labs	5ecea63e6e
19:45858934 ERCC2 C>T	19	45858934	45858934	C	T	ERCC2	c.1532G>A	NM_000400.4	NP_000391.1:p.(Arg511Gln)	NC_000019.9:g.45858934C>T	(Likely) pathogenic	2 labs	5ed30af625
2:179448590 TTN A>G	2	179448590	179448590	A	G	TTN	c.65319T>C	NM_001267550.2	NP_001254479.2:p.(Thr21773=)	NC_000002.11:g.179448590A>G	(Likely) benign	4 labs	5ed609ca1d
10:73270982 CDH23 G>A	10	73270982	73270982	G	A	CDH23	c.429+13G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73270982G>A	(Likely) benign	2 labs	5ee6bad2d8
2:163133932 IFIH1 TAA>T	2	163133932	163133935	TAA	T	IFIH1	c.2035_2036del	NM_022168.4	NP_071451.2:p.(Leu679IlefsTer3)	NC_000002.11:g.163133934_163133935del	VUS	2 labs	5eee137815
10:88447027 LDB3 T>C	10	88447027	88447027	T	C	LDB3	c.891T>C	NM_001171610.2	NP_001165081.1:p.(Ser297=)	NC_000010.10:g.88447027T>C	(Likely) benign	6 labs	5ef6a3eb56
10:73921295 ASCC1 C>T	10	73921295	73921295	C	T	ASCC1	c.710+1G>A	NM_001198799.3	NP_001185728.1:p.?	NC_000010.10:g.73921295C>T	(Likely) pathogenic	2 labs	5ef6c11a54
11:19207812 CSRP3 C>T	11	19207812	19207812	C	T	CSRP3	c.365G>A	NM_003476.5	NP_003467.1:p.(Arg122Gln)	NC_000011.9:g.19207812C>T	VUS	5 labs	5ef73b5a7f
10:69955255 MYPN C>T	10	69955255	69955255	C	T	MYPN	c.2242C>T	NM_001256268.2	NP_001243197.1:p.(Arg748Cys)	NC_000010.10:g.69955255C>T	VUS	4 labs	5efd8f5d6e
12:6174414 VWF T>G	12	6174414	6174414	T	G	VWF	c.1182A>C	NM_000552.5	NP_000543.3:p.(Ser394=)	NC_000012.11:g.6174414T>G	(Likely) benign	2 labs	5f1c078227
17:78081661 GAA A>T	17	78081661	78081661	A	T	GAA	c.921A>T	NM_000152.5	NP_000143.2:p.(Ala307=)	NC_000017.10:g.78081661A>T	(Likely) benign	4 labs	5f2029cc08
1:27875286 AHDC1 T>A	1	27875286	27875286	T	A	AHDC1	c.3341A>T	NM_001029882.3	NP_001025053.1:p.(Tyr1114Phe)	NC_000001.10:g.27875286T>A	(Likely) benign	2 labs	5f2cd9a322
17:41243800 BRCA1 C>T	17	41243800	41243800	C	T	BRCA1	c.3748G>A	NM_007294.4	NP_009225.1:p.(Glu1250Lys)	NC_000017.10:g.41243800C>T	(Likely) benign	6 labs	5f38ffde21
7:151433028 PRKAG2 G>A	7	151433028	151433028	G	A	PRKAG2	c.52C>T	NM_001304527.2	NP_001291456.1:p.(Arg18Ter)	NC_000007.13:g.151433028G>A	VUS	2 labs	5f521004bc
1:152283267 FLG T>A	1	152283267	152283267	T	A	FLG	c.4095A>T	NM_002016.2	NP_002007.1:p.(Ala1365=)	NC_000001.10:g.152283267T>A	(Likely) benign	2 labs	5f59091daa
6:7581001 DSP C>A	6	7581001	7581001	C	A	DSP	c.4578C>A	NM_004415.4	NP_004406.2:p.(Asn1526Lys)	NC_000006.11:g.7581001C>A	(Likely) benign	4 labs	5f5bf1f6b6
6:45515007 RUNX2 G>A	6	45515007	45515007	G	A	RUNX2	c.1531G>A	NM_001024630.4	NP_001019801.3:p.(Gly511Ser)	NC_000006.11:g.45515007G>A	(Likely) benign	2 labs	5f6539e046
2:179406212 TTN A>T	2	179406212	179406212	A	T	TTN	c.97592T>A	NM_001267550.2	NP_001254479.2:p.(Val32531Glu)	NC_000002.11:g.179406212A>T	VUS	2 labs	5f7125450e
2:179434120 TTN G>A	2	179434120	179434120	G	A	TTN	c.76739C>T	NM_001267550.2	NP_001254479.2:p.(Thr25580Met)	NC_000002.11:g.179434120G>A	(Likely) benign	6 labs	5f74b8e28b
5:1294163 TERT C>T	5	1294163	1294163	C	T	TERT	c.838G>A	NM_198253.3	NP_937983.2:p.(Glu280Lys)	NC_000005.9:g.1294163C>T	(Likely) benign	2 labs	5f7ae2f445
14:24728294 TGM1 G>T	14	24728294	24728294	G	T	TGM1	c.1146C>A	NM_000359.3	NP_000350.1:p.(Gly382=)	NC_000014.8:g.24728294G>T	(Likely) benign	2 labs	5f7f19cade
X:32583915 DMD C>A	X	32583915	32583915	C	A	DMD	c.1896G>T	NM_004006.3	NP_003997.2:p.(Lys632Asn)	NC_000023.10:g.32583915C>A	VUS	2 labs	5f8a5c507a
2:179571457 TTN G>C	2	179571457	179571457	G	C	TTN	c.29144C>G	NM_001267550.2	NP_001254479.2:p.(Ala9715Gly)	NC_000002.11:g.179571457G>C	VUS	2 labs	5f8c95d37a
11:108206593 ATM G>C	11	108206593	108206593	G	C	ATM	c.8173G>C	NM_000051.4	NP_000042.3:p.(Asp2725His)	NC_000011.9:g.108206593G>C	VUS	3 labs	5f9879f8ae
17:33445572 RAD51D G>A	17	33445572	33445572	G	A	RAD51D	c.211C>T	NM_002878.4	NP_002869.3:p.(Leu71Phe)	NC_000017.10:g.33445572G>A	VUS	2 labs	5f9f15f3d4
1:154561925 ADAR C>T	1	154561925	154561925	C	T	ADAR	c.1797G>A	NM_001193495.2	NP_001180424.1:p.(Val599=)	NC_000001.10:g.154561925C>T	(Likely) benign	3 labs	5fa6570fdf
2:179494168 TTN G>A	2	179494168	179494168	G	A	TTN	c.44284C>T	NM_001267550.2	NP_001254479.2:p.(Arg14762Ter)	NC_000002.11:g.179494168G>A	(Likely) pathogenic	2 labs	5fb0337f84
12:7045891 ATN1 A>ACAG	12	7045891	7045938	A	ACAG	ATN1	c.1506_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln502dup)	NC_000012.11:g.7045936_7045938dup	(Likely) benign	3 labs	5fee9801fc
3:130682841 ATP2C1 G>T	3	130682841	130682841	G	T	ATP2C1	c.926G>T	NM_001199179.3	NP_001186108.1:p.(Gly309Val)	NC_000003.11:g.130682841G>T	(Likely) pathogenic	2 labs	60017c3014
13:32912265 BRCA2 TAA>T	13	32912265	32912267	TAA	T	BRCA2	c.3774_3775del	NM_000059.4	NP_000050.3:p.(Ile1258MetfsTer6)	NC_000013.10:g.32912266_32912267del	(Likely) pathogenic	2 labs	6008e77af0
2:50149133 NRXN1 C>T	2	50149133	50149133	C	T	NRXN1	c.4593G>A	NM_001135659.3	NP_001129131.1:p.(Ala1531=)	NC_000002.11:g.50149133C>T	(Likely) benign	4 labs	600cd15ebb
19:30193654 C19orf12 T>C	19	30193654	30193654	T	C	C19orf12	c.391A>G	NM_031448.6	NP_113636.2:p.(Lys131Glu)	NC_000019.9:g.30193654T>C	(Likely) benign	4 labs	60360dff31
20:47630449 ARFGEF2 C>T	20	47630449	47630449	C	T	ARFGEF2	c.4131C>T	NM_006420.3	NP_006411.2:p.(Ile1377=)	NC_000020.10:g.47630449C>T	(Likely) benign	2 labs	6041d762db
16:23614983 PALB2 C>A	16	23614983	23614983	C	A	PALB2	c.3358G>T	NM_024675.4	NP_078951.2:p.(Glu1120Ter)	NC_000016.9:g.23614983C>A	(Likely) pathogenic	2 labs	6046d28a1b
10:85974236 CDHR1 T>C	10	85974236	85974236	T	C	CDHR1	c.2439T>C	NM_033100.4	NP_149091.1:p.(Thr813=)	NC_000010.10:g.85974236T>C	(Likely) benign	2 labs	60491aaca5
5:176637963 NSD1 G>A	5	176637963	176637963	G	A	NSD1	c.2563G>A	NM_022455.5	NP_071900.2:p.(Ala855Thr)	NC_000005.9:g.176637963G>A	(Likely) benign	2 labs	604eed31e7
11:76867991 MYO7A G>A	11	76867991	76867991	G	A	MYO7A	c.676G>A	NM_000260.4	NP_000251.3:p.(Ala226Thr)	NC_000011.9:g.76867991G>A	VUS	4 labs	606eb04401
19:49469087 FTL T>C	19	49469087	49469087	T	C	FTL	c.163T>C	NM_000146.4	NP_000137.2:p.(Leu55=)	NC_000019.9:g.49469087T>C	(Likely) benign	6 labs	607c0efe8f
6:137524870 IFNGR1 G>GA	6	137524870	137524884	G	GA	IFNGR1	c.547-49dup	NM_000416.3	NP_000407.1:p.?	NC_000006.11:g.137524884dup	(Likely) benign	2 labs	607d210aed
1:76227022 ACADM A>G	1	76227022	76227022	A	G	ACADM	c.1260A>G	NM_001286043.2	NP_001272972.1:p.(Val420=)	NC_000001.10:g.76227022A>G	(Likely) benign	2 labs	608e7f1b6d
17:41222980 BRCA1 A>G	17	41222980	41222980	A	G	BRCA1	c.4951T>C	NM_007294.4	NP_009225.1:p.(Ser1651Pro)	NC_000017.10:g.41222980A>G	(Likely) pathogenic	2 labs	6091f34e87
7:128490102 FLNC C>T	7	128490102	128490102	C	T	FLNC	c.5272C>T	NM_001458.5	NP_001449.3:p.(Arg1758Trp)	NC_000007.13:g.128490102C>T	(Likely) benign	2 labs	60a67ee5f7
16:67976634 LCAT T>C	16	67976634	67976634	T	C	LCAT	c.463A>G	NM_000229.2	NP_000220.1:p.(Asn155Asp)	NC_000016.9:g.67976634T>C	(Likely) pathogenic	2 labs	60bb2da592
20:10633237 JAG1 G>A	20	10633237	10633237	G	A	JAG1	c.765C>T	NM_000214.3	NP_000205.1:p.(Tyr255=)	NC_000020.10:g.10633237G>A	(Likely) benign	4 labs	60bca93e5b
11:111779556 CRYAB C>T	11	111779556	111779556	C	T	CRYAB	c.460G>A	NM_001885.3	NP_001876.1:p.(Gly154Ser)	NC_000011.9:g.111779556C>T	(Likely) benign	5 labs	60c7b4f982
14:23858278 MYH6 G>T	14	23858278	23858278	G	T	MYH6	c.3979-14C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858278G>T	(Likely) benign	4 labs	60cb4eaa3a
5:156898690 NIPAL4 A>G	5	156898690	156898690	A	G	NIPAL4	c.451A>G	NM_001099287.2	NP_001092757.2:p.(Arg151Gly)	NC_000005.9:g.156898690A>G	(Likely) benign	2 labs	60d19bd8dc
2:21232803 APOB T>C	2	21232803	21232803	T	C	APOB	c.6937A>G	NM_000384.3	NP_000375.3:p.(Ile2313Val)	NC_000002.11:g.21232803T>C	(Likely) benign	2 labs	60ea063cc0
12:52188394 SCN8A C>T	12	52188394	52188394	C	T	SCN8A	c.4764C>T	NM_014191.4	NP_055006.1:p.(Phe1588=)	NC_000012.11:g.52188394C>T	(Likely) benign	4 labs	60f74a5888
16:71823279 AP1G1 C>T	16	71823279	71823279	C	T	AP1G1	c.104G>A	NM_001030007.2	NP_001025178.1:p.(Arg35Gln)	NC_000016.9:g.71823279C>T	(Likely) pathogenic	2 labs	610c409a3d
22:29092947 CHEK2 C>T	22	29092947	29092947	C	T	CHEK2	c.1037G>A	NM_007194.4	NP_009125.1:p.(Arg346His)	NC_000022.10:g.29092947C>T	(Likely) pathogenic	4 labs	610c6c9ede
15:73624589 HCN4 G>A	15	73624589	73624589	G	A	HCN4	c.1254C>T	NM_005477.3	NP_005468.1:p.(Ile418=)	NC_000015.9:g.73624589G>A	(Likely) benign	4 labs	6119176e3d
15:73621995 HCN4 G>A	15	73621995	73621995	G	A	HCN4	c.1509C>T	NM_005477.3	NP_005468.1:p.(Ala503=)	NC_000015.9:g.73621995G>A	(Likely) benign	2 labs	61413fea5d
17:41199657 BRCA1 T>G	17	41199657	41199657	T	G	BRCA1	c.5467+3A>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41199657T>G	VUS	2 labs	614a7d24aa
2:44101570 ABCG8 A>G	2	44101570	44101570	A	G	ABCG8	c.1436A>G	NM_022437.3	NP_071882.1:p.(Tyr479Cys)	NC_000002.11:g.44101570A>G	VUS	3 labs	614f9c83dc
6:33141475 COL11A2 C>T	6	33141475	33141475	C	T	COL11A2	c.2628+3G>A	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33141475C>T	(Likely) benign	4 labs	6156000ab4
7:91630620 AKAP9 G>T	7	91630620	91630620	G	T	AKAP9	c.1389G>T	NM_005751.5	NP_005742.4:p.(Met463Ile)	NC_000007.13:g.91630620G>T	(Likely) benign	3 labs	615e6914ba
2:21256405 APOB G>C	2	21256405	21256405	G	C	APOB	c.905-15C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21256405G>C	(Likely) benign	2 labs	616410d62c
X:153590338 FLNA T>G	X	153590338	153590338	T	G	FLNA	c.2826+9A>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153590338T>G	(Likely) benign	2 labs	61a3795362
16:23635348 PALB2 A>C	16	23635348	23635348	A	C	PALB2	c.2816T>G	NM_024675.4	NP_078951.2:p.(Leu939Trp)	NC_000016.9:g.23635348A>C	(Likely) benign	7 labs	61bb72d005
3:52485426 TNNC1 G>T	3	52485426	52485426	G	T	TNNC1	c.435C>A	NM_003280.3	NP_003271.1:p.(Asp145Glu)	NC_000003.11:g.52485426G>T	VUS	2 labs	61bbe559f9
11:108164068 ATM T>C	11	108164068	108164068	T	C	ATM	c.4640T>C	NM_000051.4	NP_000042.3:p.(Ile1547Thr)	NC_000011.9:g.108164068T>C	VUS	4 labs	61d2e57ad6
7:151875096 KMT2C C>CT	7	151875096	151875100	C	CT	KMT2C	c.7443-2dup	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875100dup	(Likely) benign	2 labs	61d54c6632
22:29083956 CHEK2 G>A	22	29083956	29083956	G	A	CHEK2	c.1561C>T	NM_007194.4	NP_009125.1:p.(Arg521Trp)	NC_000022.10:g.29083956G>A	VUS	6 labs	61e80f38aa
15:85401500 ALPK3 C>T	15	85401500	85401500	C	T	ALPK3	c.3531C>T	NM_020778.5	NP_065829.4:p.(Asp1177=)	NC_000015.9:g.85401500C>T	(Likely) benign	2 labs	61f3a571a9
13:32899321 BRCA2 G>A	13	32899321	32899321	G	A	BRCA2	c.425G>A	NM_000059.4	NP_000050.3:p.(Ser142Asn)	NC_000013.10:g.32899321G>A	(Likely) benign	2 labs	6201d31baa
18:46905012 DYM C>A	18	46905012	46905012	C	A	DYM	c.346G>T	NM_017653.6	NP_060123.3:p.(Val116Leu)	NC_000018.9:g.46905012C>A	(Likely) benign	2 labs	6203532fd3
17:33445603 RAD51D C>A	17	33445603	33445603	C	A	RAD51D	c.180G>T	NM_002878.4	NP_002869.3:p.(Gln60His)	NC_000017.10:g.33445603C>A	VUS	2 labs	62123a5526
2:167099158 SCN9A A>G	2	167099158	167099158	A	G	SCN9A	c.3448=	NM_002977.3	NP_002968.1:p.(Arg1150=)	NC_000002.11:g.167099158A>G	(Likely) benign	2 labs	621ae73406
11:108236083 ATM G>T	11	108236083	108236083	G	T	ATM	c.9019G>T	NM_000051.4	NP_000042.3:p.(Glu3007Ter)	NC_000011.9:g.108236083G>T	(Likely) pathogenic	4 labs	622c0a7d3e
12:33030770 PKP2 G>A	12	33030770	33030770	G	A	PKP2	c.1034+10C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33030770G>A	(Likely) benign	3 labs	62315a8056
10:112540719 RBM20 A>G	10	112540719	112540719	A	G	RBM20	c.352A>G	NM_001134363.3	NP_001127835.2:p.(Thr118Ala)	NC_000010.10:g.112540719A>G	VUS	4 labs	6249dfe41a
2:179599667 TTN G>C	2	179599667	179599667	G	C	TTN	c.14984C>G	NM_001267550.2	NP_001254479.2:p.(Pro4995Arg)	NC_000002.11:g.179599667G>C	(Likely) benign	4 labs	624bda904b
1:53675716 CPT2 C>T	1	53675716	53675716	C	T	CPT2	c.370C>T	NM_000098.3	NP_000089.1:p.(Arg124Ter)	NC_000001.10:g.53675716C>T	(Likely) pathogenic	2 labs	6261c1beaa
9:135772977 TSC1 G>A	9	135772977	135772977	G	A	TSC1	c.2646C>T	NM_000368.5	NP_000359.1:p.(Ala882=)	NC_000009.11:g.135772977G>A	(Likely) benign	2 labs	626295bb47
7:30649268 GARS1 C>T	7	30649268	30649268	C	T	GARS1	c.803C>T	NM_002047.4	NP_002038.2:p.(Thr268Ile)	NC_000007.13:g.30649268C>T	(Likely) benign	4 labs	6266bb202f
1:68905254 RPE65 A>C	1	68905254	68905254	A	C	RPE65	c.715T>G	NM_000329.3	NP_000320.1:p.(Tyr239Asp)	NC_000001.10:g.68905254A>C	(Likely) pathogenic	3 labs	627474eb2e
11:125891269 CDON C>T	11	125891269	125891269	C	T	CDON	c.223G>A	NM_001243597.2	NP_001230526.1:p.(Val75Ile)	NC_000011.9:g.125891269C>T	(Likely) benign	2 labs	627720df94
6:44279111 AARS2 A>G	6	44279111	44279111	A	G	AARS2	c.581+16T>C	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44279111A>G	(Likely) benign	2 labs	627e6f0d5f
19:50826942 KCNC3 C>T	19	50826942	50826942	C	T	KCNC3	c.1268G>A	NM_004977.3	NP_004968.2:p.(Arg423His)	NC_000019.9:g.50826942C>T	(Likely) pathogenic	4 labs	62835f4394
2:179398289 TTN G>A	2	179398289	179398289	G	A	TTN	c.103053C>T	NM_001267550.2	NP_001254479.2:p.(Thr34351=)	NC_000002.11:g.179398289G>A	(Likely) benign	2 labs	629a5a7935
2:179545859 TTN C>T	2	179545859	179545859	C	T	TTN	c.33287G>A	NM_001267550.2	NP_001254479.2:p.(Arg11096His)	NC_000002.11:g.179545859C>T	(Likely) benign	3 labs	62adb105c6
16:88884459 GALNS C>A	16	88884459	88884459	C	A	GALNS	c.1456G>T	NM_001323544.2	NP_001310473.1:p.(Val486Phe)	NC_000016.9:g.88884459C>A	(Likely) benign	2 labs	62b1e2281a
5:132219154 AFF4 G>C	5	132219154	132219154	G	C	AFF4	c.3242C>G	NM_014423.4	NP_055238.1:p.(Ser1081Cys)	NC_000005.9:g.132219154G>C	VUS	2 labs	62bda45455
1:45797348 MUTYH G>A	1	45797348	45797348	G	A	MUTYH	c.1171C>T	NM_001128425.2	NP_001121897.1:p.(Gln391Ter)	NC_000001.10:g.45797348G>A	(Likely) pathogenic	3 labs	62c3a40fb4
22:50962078 SCO2 G>T	22	50962078	50962078	G	T	SCO2	c.763C>A	NM_001169109.2	NP_001162580.1:p.(Arg255=)	NC_000022.10:g.50962078G>T	(Likely) benign	2 labs	62dd09bd1f
14:23858272 MYH6 G>C	14	23858272	23858272	G	C	MYH6	c.3979-8C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858272G>C	(Likely) benign	3 labs	62e74597ac
11:46727036 ZNF408 C>T	11	46727036	46727036	C	T	ZNF408	c.1786C>T	NM_024741.3	NP_079017.1:p.(Arg596Cys)	NC_000011.9:g.46727036C>T	VUS	4 labs	62ea3ac76e
11:108224583 ATM C>T	11	108224583	108224583	C	T	ATM	c.8762C>T	NM_001351834.2	NP_001338763.1:p.(Thr2921Met)	NC_000011.9:g.108224583C>T	VUS	2 labs	62ef199f27
2:9658381 ADAM17 G>T	2	9658381	9658381	G	T	ADAM17	c.958-5C>A	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658381G>T	(Likely) benign	2 labs	62f3e1be9d
2:179438588 TTN C>G	2	179438588	179438588	C	G	TTN	c.72271G>C	NM_001267550.2	NP_001254479.2:p.(Asp24091His)	NC_000002.11:g.179438588C>G	VUS	2 labs	62fa8b0c83
4:114177036 ANK2 G>T	4	114177036	114177036	G	T	ANK2	c.1136G>T	NM_001148.6	NP_001139.3:p.(Arg379Leu)	NC_000004.11:g.114177036G>T	(Likely) benign	2 labs	62fa8c9436
6:7580073 DSP C>T	6	7580073	7580073	C	T	DSP	c.3650C>T	NM_004415.4	NP_004406.2:p.(Thr1217Met)	NC_000006.11:g.7580073C>T	(Likely) benign	4 labs	62fc520714
5:177035964 B4GALT7 T>C	5	177035964	177035964	T	C	B4GALT7	c.777T>C	NM_007255.3	NP_009186.1:p.(His259=)	NC_000005.9:g.177035964T>C	(Likely) benign	2 labs	630860a15e
X:31196942 DMD G>A	X	31196942	31196942	G	A	DMD	c.10087-20C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31196942G>A	(Likely) benign	4 labs	6309d8f7c0
14:23884293 MYH7 T>C	14	23884293	23884293	T	C	MYH7	c.5470A>G	NM_000257.4	NP_000248.2:p.(Asn1824Asp)	NC_000014.8:g.23884293T>C	VUS	2 labs	630bde5863
8:133931748 TG T>C	8	133931748	133931748	T	C	TG	c.4506T>C	NM_003235.5	NP_003226.4:p.(Ala1502=)	NC_000008.10:g.133931748T>C	(Likely) benign	2 labs	63154a869b
1:78399025 NEXN C>T	1	78399025	78399025	C	T	NEXN	c.1112C>T	NM_144573.4	NP_653174.3:p.(Pro371Leu)	NC_000001.10:g.78399025C>T	VUS	3 labs	6318006237
3:48508585 TREX1 C>T	3	48508585	48508585	C	T	TREX1	c.531=	NM_033629.6	NP_338599.1:p.(Tyr177=)	NC_000003.11:g.48508585C>T	(Likely) benign	3 labs	632c58363c
7:94252712 SGCE A>G	7	94252712	94252712	A	G	SGCE	c.391-3T>C	NM_003919.3	NP_003910.1:p.?	NC_000007.13:g.94252712A>G	(Likely) benign	2 labs	633024a5f0
2:216272907 FN1 A>T	2	216272907	216272907	A	T	FN1	c.2442T>A	NM_212482.4	NP_997647.2:p.(Pro814=)	NC_000002.11:g.216272907A>T	(Likely) benign	2 labs	634275918d
10:18828663 CACNB2 G>T	10	18828663	18828663	G	T	CACNB2	c.*10G>T	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828663G>T	(Likely) benign	3 labs	63526e9440
15:51510868 CYP19A1 A>C	15	51510868	51510868	A	C	CYP19A1	c.629-16T>G	NM_031226.3	NP_112503.1:p.?	NC_000015.9:g.51510868A>C	(Likely) benign	2 labs	6361ebe77b
5:112177134 APC A>G	5	112177134	112177134	A	G	APC	c.5843A>G	NM_000038.6	NP_000029.2:p.(Asp1948Gly)	NC_000005.9:g.112177134A>G	VUS	2 labs	636d775d52
16:30718873 SRCAP C>T	16	30718873	30718873	C	T	SRCAP	c.493-20C>T	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30718873C>T	(Likely) benign	2 labs	63778402b0
3:189584501 TP63 G>A	3	189584501	189584501	G	A	TP63	c.797G>A	NM_003722.5	NP_003713.3:p.(Arg266Gln)	NC_000003.11:g.189584501G>A	(Likely) pathogenic	2 labs	637a17497c
10:79397312 KCNMA1 T>C	10	79397312	79397312	T	C	KCNMA1	c.89A>G	NM_001014797.3	NP_001014797.1:p.(His30Arg)	NC_000010.10:g.79397312T>C	VUS	2 labs	637d46e005
17:42427605 GRN C>A	17	42427605	42427605	C	A	GRN	c.359C>A	NM_002087.4	NP_002078.1:p.(Ser120Tyr)	NC_000017.10:g.42427605C>A	VUS	2 labs	637db95fde
19:11343968 DOCK6 G>A	19	11343968	11343968	G	A	DOCK6	c.2629C>T	NM_020812.4	NP_065863.2:p.(Arg877Cys)	NC_000019.9:g.11343968G>A	VUS	2 labs	69b8d3dbd9
13:32906766 BRCA2 C>T	13	32906766	32906766	C	T	BRCA2	c.1151C>T	NM_000059.4	NP_000050.3:p.(Ser384Phe)	NC_000013.10:g.32906766C>T	(Likely) benign	7 labs	639df90566
12:38712142 ALG10B C>G	12	38712142	38712142	C	G	ALG10B	c.251C>G	NM_001013620.4	NP_001013642.2:p.(Ala84Gly)	NC_000012.11:g.38712142C>G	(Likely) benign	2 labs	63b73fa14a
13:32912089 BRCA2 CTG>C	13	32912089	32912092	CTG	C	BRCA2	c.3599_3600del	NM_000059.4	NP_000050.3:p.(Cys1200Ter)	NC_000013.10:g.32912091_32912092del	(Likely) pathogenic	5 labs	63b9559166
10:112590810 RBM20 G>C	10	112590810	112590810	G	C	RBM20	c.3452-9G>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112590810G>C	(Likely) benign	3 labs	63be7e9c61
18:50432528 DCC A>G	18	50432528	50432528	A	G	DCC	c.527A>G	NM_005215.4	NP_005206.2:p.(Asn176Ser)	NC_000018.9:g.50432528A>G	VUS	3 labs	63e12f6a4a
2:179489419 TTN G>A	2	179489419	179489419	G	A	TTN	c.44588C>T	NM_001267550.2	NP_001254479.2:p.(Thr14863Met)	NC_000002.11:g.179489419G>A	VUS	3 labs	63ecd5a8c6
14:23871969 MYH6 G>A	14	23871969	23871969	G	A	MYH6	c.939C>T	NM_002471.4	NP_002462.2:p.(Phe313=)	NC_000014.8:g.23871969G>A	(Likely) benign	2 labs	63f3dde0d0
7:107350644 SLC26A4 G>A	7	107350644	107350644	G	A	SLC26A4	c.2235G>A	NM_000441.2	NP_000432.1:p.(Thr745=)	NC_000007.13:g.107350644G>A	VUS	2 labs	63f5d34d35
13:111077197 COL4A2 G>A	13	111077197	111077197	G	A	COL4A2	c.297G>A	NM_001846.4	NP_001837.2:p.(Thr99=)	NC_000013.10:g.111077197G>A	(Likely) benign	2 labs	64093589ad
6:152809527 SYNE1 A>T	6	152809527	152809527	A	T	SYNE1	c.1047+4T>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152809527A>T	(Likely) benign	4 labs	64145c9bad
6:43565568 POLH G>T	6	43565568	43565568	G	T	POLH	c.626G>T	NM_006502.3	NP_006493.1:p.(Gly209Val)	NC_000006.11:g.43565568G>T	(Likely) benign	4 labs	641dddc984
2:179428168 TTN G>A	2	179428168	179428168	G	A	TTN	c.82691C>T	NM_001267550.2	NP_001254479.2:p.(Ala27564Val)	NC_000002.11:g.179428168G>A	(Likely) benign	6 labs	641f718561
10:69407239 CTNNA3 G>A	10	69407239	69407239	G	A	CTNNA3	c.33C>T	NM_013266.4	NP_037398.2:p.(Ile11=)	NC_000010.10:g.69407239G>A	(Likely) benign	5 labs	641ffd3809
16:3639378 SLX4 T>A	16	3639378	3639378	T	A	SLX4	c.4261A>T	NM_032444.4	NP_115820.2:p.(Ile1421Phe)	NC_000016.9:g.3639378T>A	(Likely) benign	2 labs	6422d8a8dd
4:995305 IDUA T>C	4	995305	995305	T	C	IDUA	c.543T>C	NM_000203.5	NP_000194.2:p.(Asn181=)	NC_000004.11:g.995305T>C	(Likely) benign	5 labs	643a30911b
13:32914920 BRCA2 C>A	13	32914920	32914920	C	A	BRCA2	c.6428C>A	NM_000059.4	NP_000050.3:p.(Ser2143Ter)	NC_000013.10:g.32914920C>A	(Likely) pathogenic	3 labs	643b2dfbd0
18:19424124 MIB1 A>G	18	19424124	19424124	A	G	MIB1	c.2121A>G	NM_020774.4	NP_065825.1:p.(Leu707=)	NC_000018.9:g.19424124A>G	(Likely) benign	2 labs	643eb30836
6:152763258 SYNE1 T>C	6	152763258	152763258	T	C	SYNE1	c.3960A>G	NM_182961.4	NP_892006.3:p.(Thr1320=)	NC_000006.11:g.152763258T>C	(Likely) benign	3 labs	64504566f2
3:38647642 SCN5A G>T	3	38647642	38647642	G	T	SCN5A	c.1141-3C>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38647642G>T	(Likely) benign	3 labs	6471eebd64
15:85383719 ALPK3 T>TGGCCCA	15	85383719	85383735	T	TGGCCCA	ALPK3	c.1220_1225dup	NM_020778.5	NP_065829.4:p.(Pro407_Gly408dup)	NC_000015.9:g.85383730_85383735dup	VUS	2 labs	647b8d4d2b
8:61655388 CHD7 C>T	8	61655388	61655388	C	T	CHD7	c.1397C>T	NM_017780.4	NP_060250.2:p.(Ser466Leu)	NC_000008.10:g.61655388C>T	(Likely) benign	5 labs	648a174e76
12:7361644 PEX5 C>T	12	7361644	7361644	C	T	PEX5	c.1438C>T	NM_001131025.2	NP_001124497.1:p.(Arg480Trp)	NC_000012.11:g.7361644C>T	VUS	3 labs	648eb3033c
2:179469756 TTN G>A	2	179469756	179469756	G	A	TTN	c.49225C>T	NM_001256850.1	NP_001243779.1:p.(Arg16409Cys)	NC_000002.11:g.179469756G>A	(Likely) benign	4 labs	64a0c74616
18:21124366 NPC1 G>A	18	21124366	21124366	G	A	NPC1	c.2072C>T	NM_000271.5	NP_000262.2:p.(Pro691Leu)	NC_000018.9:g.21124366G>A	(Likely) pathogenic	2 labs	64a6482473
2:241715280 KIF1A G>A	2	241715280	241715280	G	A	KIF1A	c.946C>T	NM_004321.8	NP_004312.2:p.(Arg316Trp)	NC_000002.11:g.241715280G>A	(Likely) pathogenic	2 labs	64bcd35925
2:179407637 TTN G>A	2	179407637	179407637	G	A	TTN	c.96944C>T	NM_001267550.2	NP_001254479.2:p.(Thr32315Ile)	NC_000002.11:g.179407637G>A	(Likely) benign	5 labs	64c5ffe5a5
2:166183391 SCN2A G>T	2	166183391	166183391	G	T	SCN2A	c.2046G>T	NM_021007.3	NP_066287.2:p.(Lys682Asn)	NC_000002.11:g.166183391G>T	VUS	2 labs	64c6c9d868
3:38592632 SCN5A C>G	3	38592632	38592632	C	G	SCN5A	c.5231G>C	NM_198056.3	NP_932173.1:p.(Ser1744Thr)	NC_000003.11:g.38592632C>G	VUS	2 labs	64d73b7489
1:156100408 LMNA C>T	1	156100408	156100408	C	T	LMNA	c.357C>T	NM_170707.4	NP_733821.1:p.(Arg119=)	NC_000001.10:g.156100408C>T	(Likely) benign	6 labs	64dabf1583
8:10467589 RP1L1 T>C	8	10467589	10467589	T	C	RP1L1	c.4019A>G	NM_178857.6	NP_849188.4:p.(Glu1340Gly)	NC_000008.10:g.10467589T>C	(Likely) benign	3 labs	64e365b0cf
11:108129802 ATM A>G	11	108129802	108129802	A	G	ATM	c.2466A>G	NM_000051.4	NP_000042.3:p.(Leu822=)	NC_000011.9:g.108129802A>G	(Likely) benign	2 labs	64ec6b8e56
6:7580697 DSP G>A	6	7580697	7580697	G	A	DSP	c.4274G>A	NM_004415.4	NP_004406.2:p.(Arg1425Lys)	NC_000006.11:g.7580697G>A	VUS	2 labs	64f8336f1e
21:47423389 COL6A1 G>A	21	47423389	47423389	G	A	COL6A1	c.2549G>A	NM_001848.3	NP_001839.2:p.(Arg850His)	NC_000021.8:g.47423389G>A	(Likely) benign	3 labs	64f88c6e48
2:48030631 MSH6 C>T	2	48030631	48030631	C	T	MSH6	c.3245C>T	NM_000179.3	NP_000170.1:p.(Pro1082Leu)	NC_000002.11:g.48030631C>T	(Likely) benign	2 labs	64fd3a0e34
19:11150149 SMARCA4 GAT>G	19	11150149	11150153	GAT	G	SMARCA4	c.4189_4190del	NM_001128849.3	NP_001122321.1:p.(Ile1397ProfsTer2)	NC_000019.9:g.11150152_11150153del	VUS	2 labs	64fd9081b4
10:121429354 BAG3 T>A	10	121429354	121429354	T	A	BAG3	c.181-9T>A	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121429354T>A	(Likely) benign	5 labs	65007ce039
7:117250664 CFTR T>C	7	117250664	117250664	T	C	CFTR	c.3080T>C	NM_000492.4	NP_000483.3:p.(Ile1027Thr)	NC_000007.13:g.117250664T>C	(Likely) benign	4 labs	6515a59d24
1:12010414 PLOD1 C>T	1	12010414	12010414	C	T	PLOD1	c.303C>T	NM_000302.4	NP_000293.2:p.(Ser101=)	NC_000001.10:g.12010414C>T	(Likely) benign	4 labs	651cff0a38
4:6304087 WFS1 A>G	4	6304087	6304087	A	G	WFS1	c.2565A>G	NM_006005.3	NP_005996.2:p.(Ser855=)	NC_000004.11:g.6304087A>G	(Likely) benign	3 labs	6520525637
6:7585725 DSP A>G	6	7585725	7585725	A	G	DSP	c.8230A>G	NM_004415.4	NP_004406.2:p.(Arg2744Gly)	NC_000006.11:g.7585725A>G	VUS	4 labs	6521202438
8:100791192 VPS13B C>T	8	100791192	100791192	C	T	VPS13B	c.7787C>T	NM_017890.5	NP_060360.3:p.(Ser2596Phe)	NC_000008.10:g.100791192C>T	VUS	3 labs	6524e31af0
3:100994497 IMPG2 C>T	3	100994497	100994497	C	T	IMPG2	c.666+10G>A	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100994497C>T	(Likely) benign	2 labs	65274010c6
10:75855541 VCL C>T	10	75855541	75855541	C	T	VCL	c.1671C>T	NM_014000.3	NP_054706.1:p.(Asp557=)	NC_000010.10:g.75855541C>T	(Likely) benign	6 labs	6534154e9f
3:38592534 SCN5A C>T	3	38592534	38592534	C	T	SCN5A	c.5329G>A	NM_198056.3	NP_932173.1:p.(Val1777Met)	NC_000003.11:g.38592534C>T	VUS	2 labs	653fcb370e
2:179402291 TTN G>A	2	179402291	179402291	G	A	TTN	c.99643C>T	NM_001267550.2	NP_001254479.2:p.(Arg33215Trp)	NC_000002.11:g.179402291G>A	VUS	2 labs	6c536db6b1
7:117243596 CFTR C>T	7	117243596	117243596	C	T	CFTR	c.2668C>T	NM_000492.4	NP_000483.3:p.(Gln890Ter)	NC_000007.13:g.117243596C>T	(Likely) pathogenic	2 labs	654e3266a7
17:37822067 TCAP G>A	17	37822067	37822067	G	A	TCAP	c.209G>A	NM_003673.4	NP_003664.1:p.(Arg70Gln)	NC_000017.10:g.37822067G>A	VUS	3 labs	6552a2056d
1:237617757 RYR2 C>T	1	237617757	237617757	C	T	RYR2	c.1359C>T	NM_001035.3	NP_001026.2:p.(Ser453=)	NC_000001.10:g.237617757C>T	(Likely) benign	3 labs	6557894cb0
5:178770759 ADAMTS2 C>G	5	178770759	178770759	C	G	ADAMTS2	c.534+9G>C	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178770759C>G	(Likely) benign	2 labs	655deda22a
17:39925320 JUP C>T	17	39925320	39925320	C	T	JUP	c.608G>A	NM_002230.4	NP_002221.1:p.(Arg203His)	NC_000017.10:g.39925320C>T	VUS	3 labs	65605382d3
1:6212566 CHD5 G>C	1	6212566	6212566	G	C	CHD5	c.776C>G	NM_015557.3	NP_056372.1:p.(Ser259Cys)	NC_000001.10:g.6212566G>C	(Likely) benign	2 labs	65710f9f2d
12:124181049 TCTN2 C>T	12	124181049	124181049	C	T	TCTN2	c.1393+7C>T	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124181049C>T	(Likely) benign	2 labs	6579fbc658
1:78408329 NEXN T>C	1	78408329	78408329	T	C	NEXN	c.1843T>C	NM_144573.4	NP_653174.3:p.(Trp615Arg)	NC_000001.10:g.78408329T>C	VUS	4 labs	657b357356
3:38671867 SCN5A G>A	3	38671867	38671867	G	A	SCN5A	c.327C>T	NM_001099404.2	NP_001092874.1:p.(Asn109=)	NC_000003.11:g.38671867G>A	(Likely) benign	4 labs	657f21d154
16:88898507 GALNS C>A	16	88898507	88898507	C	A	GALNS	c.901G>T	NM_000512.5	NP_000503.1:p.(Gly301Cys)	NC_000016.9:g.88898507C>A	(Likely) pathogenic	2 labs	658c4ae306
2:170103351 LRP2 G>T	2	170103351	170103351	G	T	LRP2	c.3054C>A	NM_004525.3	NP_004516.2:p.(Thr1018=)	NC_000002.11:g.170103351G>T	(Likely) benign	2 labs	658d411c11
2:152476028 NEB C>G	2	152476028	152476028	C	G	NEB	c.10809G>C	NM_001271208.2	NP_001258137.2:p.(Trp3603Cys)	NC_000002.11:g.152476028C>G	(Likely) benign	2 labs	658f209584
11:34991727 PDHX T>C	11	34991727	34991727	T	C	PDHX	c.858T>C	NM_003477.3	NP_003468.2:p.(Val286=)	NC_000011.9:g.34991727T>C	(Likely) benign	2 labs	65a6d350ca
2:74691766 MOGS A>C	2	74691766	74691766	A	C	MOGS	c.436T>G	NM_006302.3	NP_006293.2:p.(Tyr146Asp)	NC_000002.11:g.74691766A>C	VUS	2 labs	65ab7ef3b4
17:18058521 MYO15A C>T	17	18058521	18058521	C	T	MYO15A	c.8322C>T	NM_016239.4	NP_057323.3:p.(Ser2774=)	NC_000017.10:g.18058521C>T	(Likely) benign	2 labs	65b51de7cd
2:21265341 APOB C>G	2	21265341	21265341	C	G	APOB	c.129G>C	NM_000384.3	NP_000375.3:p.(Ala43=)	NC_000002.11:g.21265341C>G	(Likely) benign	3 labs	65bfb00f63
10:92678707 ANKRD1 G>A	10	92678707	92678707	G	A	ANKRD1	c.368C>T	NM_014391.3	NP_055206.2:p.(Thr123Met)	NC_000010.10:g.92678707G>A	(Likely) benign	4 labs	65c7859479
16:16251599 ABCC6 C>T	16	16251599	16251599	C	T	ABCC6	c.3803G>A	NM_001171.6	NP_001162.5:p.(Arg1268Gln)	NC_000016.9:g.16251599C>T	(Likely) benign	4 labs	65cb63f5b3
2:85893741 SFTPB G>A	2	85893741	85893741	G	A	SFTPB	c.392C>T	NM_000542.5	NP_000533.4:p.(Thr131Ile)	NC_000002.11:g.85893741G>A	(Likely) benign	2 labs	65ccdfd82d
6:56482801 DST C>G	6	56482801	56482801	C	G	DST	c.6031G>C	NM_001723.7	NP_001714.1:p.(Val2011Leu)	NC_000006.11:g.56482801C>G	(Likely) benign	2 labs	65d138cc97
6:157527679 ARID1B C>T	6	157527679	157527679	C	T	ARID1B	c.5653C>T	NM_001371656.1	NP_001358585.1:p.(Arg1885Ter)	NC_000006.11:g.157527679C>T	(Likely) pathogenic	2 labs	65d4c5bcc3
7:100275444 GNB2 G>A	7	100275444	100275444	G	A	GNB2	c.497+3G>A	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100275444G>A	(Likely) benign	2 labs	65e2afa34c
3:52439216 BAP1 G>A	3	52439216	52439216	G	A	BAP1	c.1026C>T	NM_004656.4	NP_004647.1:p.(Ser342=)	NC_000003.11:g.52439216G>A	(Likely) benign	6 labs	65e3abd8d5
8:10464755 RP1L1 C>T	8	10464755	10464755	C	T	RP1L1	c.6853G>A	NM_178857.6	NP_849188.4:p.(Gly2285Arg)	NC_000008.10:g.10464755C>T	(Likely) benign	2 labs	65eacc625d
12:80747242 OTOGL A>G	12	80747242	80747242	A	G	OTOGL	c.5545A>G	NM_173591.7	NP_775862.4:p.(Ile1849Val)	NC_000012.11:g.80747242A>G	(Likely) benign	2 labs	65f3afd6c9
12:57535266 LRP1 C>T	12	57535266	57535266	C	T	LRP1	c.300C>T	NM_002332.3	NP_002323.2:p.(Asp100=)	NC_000012.11:g.57535266C>T	(Likely) benign	2 labs	660137647c
2:179403936 TTN A>G	2	179403936	179403936	A	G	TTN	c.93803T>C	NM_001256850.1	NP_001243779.1:p.(Val31268Ala)	NC_000002.11:g.179403936A>G	(Likely) benign	5 labs	66029a2dd3
3:33114105 GLB1 C>T	3	33114105	33114105	C	T	GLB1	c.176G>A	NM_000404.4	NP_000395.3:p.(Arg59His)	NC_000003.11:g.33114105C>T	(Likely) pathogenic	2 labs	66081568eb
5:7897319 MTRR G>A	5	7897319	7897319	G	A	MTRR	c.1911G>A	NM_002454.3	NP_002445.2:p.(Ala637=)	NC_000005.9:g.7897319G>A	(Likely) benign	2 labs	661e9513bf
21:47423507 COL6A1 G>A	21	47423507	47423507	G	A	COL6A1	c.2667G>A	NM_001848.3	NP_001839.2:p.(Ala889=)	NC_000021.8:g.47423507G>A	(Likely) benign	3 labs	6620964d5c
22:21344815 LZTR1 G>A	22	21344815	21344815	G	A	LZTR1	c.791+1G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21344815G>A	(Likely) pathogenic	2 labs	66239a73e5
3:132418279 NPHP3 T>C	3	132418279	132418279	T	C	NPHP3	c.1903A>G	NM_153240.5	NP_694972.3:p.(Met635Val)	NC_000003.11:g.132418279T>C	VUS	3 labs	6632cd0f08
3:128205754 GATA2 G>C	3	128205754	128205754	G	C	GATA2	c.121C>G	NM_032638.5	NP_116027.2:p.(Pro41Ala)	NC_000003.11:g.128205754G>C	VUS	3 labs	6635fbe882
17:41199692 BRCA1 G>C	17	41199692	41199692	G	C	BRCA1	c.5435C>G	NM_007294.4	NP_009225.1:p.(Pro1812Arg)	NC_000017.10:g.41199692G>C	VUS	2 labs	66388a7fd2
X:154754197 TMLHE C>T	X	154754197	154754197	C	T	TMLHE	c.278G>A	NM_018196.4	NP_060666.1:p.(Arg93His)	NC_000023.10:g.154754197C>T	VUS	2 labs	6641a8b70a
11:67803762 NDUFS8 C>T	11	67803762	67803762	C	T	NDUFS8	c.415C>T	NM_002496.4	NP_002487.1:p.(Arg139Trp)	NC_000011.9:g.67803762C>T	VUS	2 labs	66472bc952
11:47364160 MYBPC3 C>T	11	47364160	47364160	C	T	MYBPC3	c.1593G>A	NM_000256.3	NP_000247.2:p.(Gly531=)	NC_000011.9:g.47364160C>T	(Likely) benign	5 labs	66524715a2
X:79279563 TBX22 C>A	X	79279563	79279563	C	A	TBX22	c.358C>A	NM_001109878.2	NP_001103348.1:p.(Arg120=)	NC_000023.10:g.79279563C>A	(Likely) benign	2 labs	6664abd205
8:144997671 PLEC G>A	8	144997671	144997671	G	A	PLEC	c.6837C>T	NM_201380.4	NP_958782.1:p.(Ala2279=)	NC_000008.10:g.144997671G>A	(Likely) benign	5 labs	66668a1d4e
15:89865023 POLG C>T	15	89865023	89865023	C	T	POLG	c.2542G>A	NM_002693.2	NP_002684.1:p.(Gly848Ser)	NC_000015.9:g.89865023C>T	(Likely) pathogenic	5 labs	666e523142
11:22281107 ANO5 C>T	11	22281107	22281107	C	T	ANO5	c.1450C>T	NM_213599.3	NP_998764.1:p.(Arg484Cys)	NC_000011.9:g.22281107C>T	VUS	2 labs	667b1c4555
11:44254000 EXT2 C>T	11	44254000	44254000	C	T	EXT2	c.1760C>T	NM_207122.2	NP_997005.1:p.(Thr587Met)	NC_000011.9:g.44254000C>T	VUS	2 labs	667c38f035
9:111662096 ELP1 A>G	9	111662096	111662096	A	G	ELP1	c.2204+6T>C	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111662096A>G	(Likely) pathogenic	2 labs	6688a867c4
2:179452520 TTN C>T	2	179452520	179452520	C	T	TTN	c.63516G>A	NM_001267550.2	NP_001254479.2:p.(Pro21172=)	NC_000002.11:g.179452520C>T	(Likely) benign	3 labs	6692ab2b87
19:11222198 LDLR G>A	19	11222198	11222198	G	A	LDLR	c.1069G>A	NM_000527.5	NP_000518.1:p.(Glu357Lys)	NC_000019.9:g.11222198G>A	(Likely) pathogenic	2 labs	669a5f964b
2:179629325 TTN G>A	2	179629325	179629325	G	A	TTN	c.9917C>T	NM_001267550.2	NP_001254479.2:p.(Ala3306Val)	NC_000002.11:g.179629325G>A	VUS	2 labs	66abcc6154
5:112178789 APC C>A	5	112178789	112178789	C	A	APC	c.7498C>A	NM_000038.6	NP_000029.2:p.(Gln2500Lys)	NC_000005.9:g.112178789C>A	(Likely) benign	2 labs	66ad81c811
6:79711647 PHIP T>G	6	79711647	79711647	T	G	PHIP	c.1848A>C	NM_017934.7	NP_060404.4:p.(Gln616His)	NC_000006.11:g.79711647T>G	(Likely) benign	3 labs	66b10b5e31
7:92147584 PEX1 C>T	7	92147584	92147584	C	T	PEX1	c.358-15G>A	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92147584C>T	(Likely) benign	3 labs	66cc6be89c
2:179391754 TTN A>G	2	179391754	179391754	A	G	TTN	c.107961T>C	NM_001267550.2	NP_001254479.2:p.(His35987=)	NC_000002.11:g.179391754A>G	(Likely) benign	6 labs	66d7093c0f
2:179402589 TTN A>C	2	179402589	179402589	A	C	TTN	c.99345T>G	NM_001267550.2	NP_001254479.2:p.(Gly33115=)	NC_000002.11:g.179402589A>C	(Likely) benign	3 labs	66dac2641f
14:58894351 KIAA0586 T>G	14	58894351	58894351	T	G	KIAA0586	c.5T>G	NM_001244189.2	NP_001231118.1:p.(Phe2Cys)	NC_000014.8:g.58894351T>G	VUS	3 labs	66db43b6e3
15:45408414 DUOXA2 C>G	15	45408414	45408414	C	G	DUOXA2	c.298C>G	NM_207581.4	NP_997464.2:p.(Arg100Gly)	NC_000015.9:g.45408414C>G	(Likely) benign	2 labs	66dd21949c
16:88908306 GALNS G>A	16	88908306	88908306	G	A	GALNS	c.318C>T	NM_000512.5	NP_000503.1:p.(Asn106=)	NC_000016.9:g.88908306G>A	(Likely) benign	2 labs	66ddcd778d
2:47698145 MSH2 CAG>C	2	47698145	47698148	CAG	C	MSH2	c.1705_1706del	NM_000251.3	NP_000242.1:p.(Glu569IlefsTer2)	NC_000002.11:g.47698147_47698148del	(Likely) pathogenic	2 labs	66e80b8cbf
3:38645331 SCN5A GGAGGGC>G	3	38645331	38645338	GGAGGGC	G	SCN5A	c.1756_1761del	NM_198056.3	NP_932173.1:p.(Ala586_Leu587del)	NC_000003.11:g.38645333_38645338del	VUS	2 labs	66e927244f
2:21249840 APOB A>T	2	21249840	21249840	A	T	APOB	c.2068-4T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21249840A>T	(Likely) benign	3 labs	66f32996fa
6:112450109 LAMA4 G>A	6	112450109	112450109	G	A	LAMA4	c.4287+15C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112450109G>A	(Likely) benign	3 labs	66f54b7b41
19:42474386 ATP1A3 C>T	19	42474386	42474386	C	T	ATP1A3	c.2532G>A	NM_001256214.2	NP_001243143.1:p.(Thr844=)	NC_000019.9:g.42474386C>T	(Likely) benign	3 labs	66f6f76b70
7:6043321 PMS2 C>T	7	6043321	6043321	C	T	PMS2	c.353G>A	NM_000535.7	NP_000526.2:p.(Ser118Asn)	NC_000007.13:g.6043321C>T	(Likely) pathogenic	3 labs	66fa589082
17:42953409 EFTUD2 A>G	17	42953409	42953409	A	G	EFTUD2	c.762T>C	NM_001258353.2	NP_001245282.1:p.(Thr254=)	NC_000017.10:g.42953409A>G	(Likely) benign	4 labs	670c280cf8
17:17696531 RAI1 G>C	17	17696531	17696531	G	C	RAI1	c.269G>C	NM_030665.4	NP_109590.3:p.(Gly90Ala)	NC_000017.10:g.17696531G>C	(Likely) benign	2 labs	6711cb3f2a
5:73981270 HEXB T>C	5	73981270	73981270	T	C	HEXB	c.185T>C	NM_000521.4	NP_000512.2:p.(Leu62Ser)	NC_000005.9:g.73981270T>C	(Likely) benign	2 labs	671a6b41df
1:245021486 HNRNPU C>T	1	245021486	245021486	C	T	HNRNPU	c.1321G>A	NM_031844.3	NP_114032.2:p.(Gly441Arg)	NC_000001.10:g.245021486C>T	VUS	2 labs	6723b5ceb2
16:921178 LMF1 C>T	16	921178	921178	C	T	LMF1	c.1061G>A	NM_022773.4	NP_073610.2:p.(Arg354Gln)	NC_000016.9:g.921178C>T	(Likely) benign	2 labs	6726dd9dbd
6:7583937 DSP G>A	6	7583937	7583937	G	A	DSP	c.6442G>A	NM_004415.4	NP_004406.2:p.(Ala2148Thr)	NC_000006.11:g.7583937G>A	VUS	2 labs	672c6e8232
4:84188850 COQ2 G>A	4	84188850	84188850	G	A	COQ2	c.990C>T	NM_015697.9	NP_056512.5:p.(Ser330=)	NC_000004.11:g.84188850G>A	(Likely) benign	2 labs	67304c2da3
17:39912040 JUP C>A	17	39912040	39912040	C	A	JUP	c.2194G>T	NM_002230.4	NP_002221.1:p.(Gly732Cys)	NC_000017.10:g.39912040C>A	VUS	2 labs	673581d090
19:50905983 POLD1 T>G	19	50905983	50905983	T	G	POLD1	c.955T>G	NM_002691.4	NP_002682.2:p.(Cys319Gly)	NC_000019.9:g.50905983T>G	VUS	2 labs	6738d4913d
11:65988130 PACS1 G>A	11	65988130	65988130	G	A	PACS1	c.1067G>A	NM_018026.4	NP_060496.2:p.(Arg356His)	NC_000011.9:g.65988130G>A	VUS	2 labs	67479311cc
17:10295914 MYH8 T>G	17	10295914	10295914	T	G	MYH8	c.5513A>C	NM_002472.3	NP_002463.2:p.(Glu1838Ala)	NC_000017.10:g.10295914T>G	(Likely) benign	2 labs	674853d6e9
2:145161492 ZEB2 C>G	2	145161492	145161492	C	G	ZEB2	c.798G>C	NM_014795.4	NP_055610.1:p.(Gly266=)	NC_000002.11:g.145161492C>G	(Likely) benign	2 labs	674933016a
6:44269023 AARS2 T>C	6	44269023	44269023	T	C	AARS2	c.2683-20A>G	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44269023T>C	(Likely) benign	2 labs	6749b1d979
17:39923794 JUP G>A	17	39923794	39923794	G	A	JUP	c.746C>T	NM_002230.4	NP_002221.1:p.(Thr249Met)	NC_000017.10:g.39923794G>A	VUS	4 labs	674c23aea7
21:46314907 ITGB2 T>A	21	46314907	46314907	T	A	ITGB2	c.1062=	NM_000211.5	NP_000202.3:p.(His354=)	NC_000021.8:g.46314907T>A	(Likely) benign	2 labs	674c37e4d8
20:61040951 GATA5 C>T	20	61040951	61040951	C	T	GATA5	c.852G>A	NM_080473.5	NP_536721.1:p.(Lys284=)	NC_000020.10:g.61040951C>T	(Likely) benign	2 labs	674ee12e1d
5:178415982 GRM6 A>G	5	178415982	178415982	A	G	GRM6	c.1308T>C	NM_000843.4	NP_000834.2:p.(Thr436=)	NC_000005.9:g.178415982A>G	(Likely) benign	2 labs	675aaf1173
14:53619463 DDHD1 G>A	14	53619463	53619463	G	A	DDHD1	c.354C>T	NM_001160148.2	NP_001153620.1:p.(His118=)	NC_000014.8:g.53619463G>A	(Likely) benign	2 labs	677174414b
2:45171787 SIX3 C>G	2	45171787	45171787	C	G	SIX3	c.887C>G	NM_005413.4	NP_005404.1:p.(Ser296Trp)	NC_000002.11:g.45171787C>G	VUS	2 labs	67740ae532
X:32380997 DMD G>A	X	32380997	32380997	G	A	DMD	c.5233C>T	NM_004006.3	NP_003997.2:p.(Arg1745Cys)	NC_000023.10:g.32380997G>A	VUS	2 labs	677b973378
19:11240278 LDLR G>A	19	11240278	11240278	G	A	LDLR	c.2479G>A	NM_000527.5	NP_000518.1:p.(Val827Ile)	NC_000019.9:g.11240278G>A	(Likely) benign	2 labs	679322cf98
12:66826340 GRIP1 T>G	12	66826340	66826340	T	G	GRIP1	c.1600A>C	NM_021150.4	NP_066973.2:p.(Ile534Leu)	NC_000012.11:g.66826340T>G	(Likely) benign	3 labs	679afb8271
7:128496634 FLNC CGT>C	7	128496634	128496637	CGT	C	FLNC	c.7316_7317del	NM_001458.5	NP_001449.3:p.(Val2439AspfsTer2)	NC_000007.13:g.128496636_128496637del	(Likely) pathogenic	2 labs	67bb69d0d9
4:151765243 LRBA G>A	4	151765243	151765243	G	A	LRBA	c.4569+9C>T	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151765243G>A	(Likely) benign	2 labs	67c9308b3e
15:99439982 IGF1R A>G	15	99439982	99439982	A	G	IGF1R	c.954-4A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99439982A>G	VUS	2 labs	67cf4b4f18
1:108700245 SLC25A24 G>A	1	108700245	108700245	G	A	SLC25A24	c.511-3C>T	NM_013386.5	NP_037518.3:p.?	NC_000001.10:g.108700245G>A	(Likely) benign	2 labs	67d3cf6598
12:56087068 ITGA7 C>T	12	56087068	56087068	C	T	ITGA7	c.2581G>A	NM_001144996.2	NP_001138468.1:p.(Gly861Ser)	NC_000012.11:g.56087068C>T	(Likely) benign	4 labs	67d5710e5d
7:81662179 CACNA2D1 C>T	7	81662179	81662179	C	T	CACNA2D1	c.1077G>A	NM_000722.4	NP_000713.2:p.(Met359Ile)	NC_000007.13:g.81662179C>T	VUS	2 labs	67e00c767a
12:32863915 DNM1L A>G	12	32863915	32863915	A	G	DNM1L	c.422A>G	NM_012062.5	NP_036192.2:p.(Asn141Ser)	NC_000012.11:g.32863915A>G	VUS	2 labs	67e0354f80
17:73836162 UNC13D C>G	17	73836162	73836162	C	G	UNC13D	c.888G>C	NM_199242.3	NP_954712.1:p.(Pro296=)	NC_000017.10:g.73836162C>G	(Likely) benign	3 labs	67e5720019
17:17122373 FLCN C>T	17	17122373	17122373	C	T	FLCN	c.1022G>A	NM_144997.7	NP_659434.2:p.(Arg341Gln)	NC_000017.10:g.17122373C>T	(Likely) benign	2 labs	67ebc6c05c
15:45393425 DUOX2 TGAAC>T	15	45393425	45393431	TGAAC	T	DUOX2	c.2895_2898del	NM_014080.5	NP_054799.4:p.(Phe966SerfsTer29)	NC_000015.9:g.45393428_45393431del	(Likely) pathogenic	2 labs	67f62ea961
2:215645446 BARD1 G>A	2	215645446	215645446	G	A	BARD1	c.1152C>T	NM_000465.4	NP_000456.2:p.(Ser384=)	NC_000002.11:g.215645446G>A	(Likely) benign	5 labs	68048cfe7b
20:62324600 RTEL1 C>T	20	62324600	62324600	C	T	RTEL1	c.3028C>T	NM_032957.5	NP_116575.3:p.(Arg1010Ter)	NC_000020.10:g.62324600C>T	(Likely) pathogenic	4 labs	6804b2fecf
2:73717923 ALMS1 A>G	2	73717923	73717923	A	G	ALMS1	c.8840A>G	NM_015120.4	NP_055935.4:p.(His2947Arg)	NC_000002.11:g.73717923A>G	(Likely) benign	2 labs	6804f16eba
11:108216545 ATM C>T	11	108216545	108216545	C	T	ATM	c.8494C>T	NM_000051.4	NP_000042.3:p.(Arg2832Cys)	NC_000011.9:g.108216545C>T	(Likely) pathogenic	6 labs	680b7464f8
5:178421770 GRM6 T>G	5	178421770	178421770	T	G	GRM6	c.176A>C	NM_000843.4	NP_000834.2:p.(Gln59Pro)	NC_000005.9:g.178421770T>G	(Likely) benign	2 labs	680c07a120
18:29078220 DSG2 G>A	18	29078220	29078220	G	A	DSG2	c.6G>A	NM_001943.5	NP_001934.2:p.(Ala2=)	NC_000018.9:g.29078220G>A	(Likely) benign	5 labs	681697e1a1
10:48388720 RBP3 C>A	10	48388720	48388720	C	A	RBP3	c.2158G>T	NM_002900.3	NP_002891.1:p.(Val720Phe)	NC_000010.10:g.48388720C>A	VUS	2 labs	681ebd1bb5
X:43817760 NDP A>G	X	43817760	43817760	A	G	NDP	c.132T>C	NM_000266.4	NP_000257.1:p.(Tyr44=)	NC_000023.10:g.43817760A>G	(Likely) benign	2 labs	6821df03f8
11:117282800 CEP164 G>T	11	117282800	117282800	G	T	CEP164	c.4299G>T	NM_014956.5	NP_055771.4:p.(Ser1433=)	NC_000011.9:g.117282800G>T	(Likely) benign	2 labs	68260a09c7
16:3293377 MEFV C>T	16	3293377	3293377	C	T	MEFV	c.2110G>A	NM_000243.3	NP_000234.1:p.(Val704Ile)	NC_000016.9:g.3293377C>T	VUS	2 labs	6852540561
12:21995409 ABCC9 T>G	12	21995409	21995409	T	G	ABCC9	c.3316-4A>C	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.21995409T>G	(Likely) benign	4 labs	6855199cf9
16:88497400 ZNF469 G>A	16	88497400	88497400	G	A	ZNF469	c.3522G>A	NM_001367624.2	NP_001354553.1:p.(Pro1174=)	NC_000016.9:g.88497400G>A	(Likely) benign	3 labs	685deda509
2:179403770 TTN G>A	2	179403770	179403770	G	A	TTN	c.98892C>T	NM_001267550.2	NP_001254479.2:p.(Pro32964=)	NC_000002.11:g.179403770G>A	(Likely) benign	5 labs	686faa1311
6:102503196 GRIK2 C>T	6	102503196	102503196	C	T	GRIK2	c.2312-9C>T	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102503196C>T	(Likely) benign	2 labs	6870610cfe
6:112461028 LAMA4 A>G	6	112461028	112461028	A	G	LAMA4	c.3036T>C	NM_001105206.3	NP_001098676.2:p.(Asn1012=)	NC_000006.11:g.112461028A>G	(Likely) benign	2 labs	687d094f0e
2:179458821 TTN A>C	2	179458821	179458821	A	C	TTN	c.58299T>G	NM_001267550.2	NP_001254479.2:p.(Thr19433=)	NC_000002.11:g.179458821A>C	(Likely) benign	3 labs	689061fbc6
7:2987289 CARD11 C>T	7	2987289	2987289	C	T	CARD11	c.140G>A	NM_032415.7	NP_115791.3:p.(Arg47His)	NC_000007.13:g.2987289C>T	(Likely) pathogenic	2 labs	689d152d8f
16:83945807 MLYCD C>T	16	83945807	83945807	C	T	MLYCD	c.799-16C>T	NM_012213.3	NP_036345.2:p.?	NC_000016.9:g.83945807C>T	(Likely) benign	2 labs	68a3d9f4cb
1:227071517 PSEN2 G>C	1	227071517	227071517	G	C	PSEN2	c.253G>C	NM_000447.3	NP_000438.2:p.(Ala85Pro)	NC_000001.10:g.227071517G>C	VUS	2 labs	68a91cc46d
2:71780278 DYSF G>A	2	71780278	71780278	G	A	DYSF	c.1890G>A	NM_003494.4	NP_003485.1:p.(Pro630=)	NC_000002.11:g.71780278G>A	(Likely) benign	2 labs	68a9221a47
7:128484053 FLNC C>T	7	128484053	128484053	C	T	FLNC	c.2930-5C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128484053C>T	(Likely) benign	2 labs	68aa56e156
5:156747813 CYFIP2 A>G	5	156747813	156747813	A	G	CYFIP2	c.1671+3A>G	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156747813A>G	(Likely) benign	2 labs	68b0164427
2:179430818 TTN G>A	2	179430818	179430818	G	A	TTN	c.80041C>T	NM_001267550.2	NP_001254479.2:p.(Leu26681Phe)	NC_000002.11:g.179430818G>A	(Likely) benign	2 labs	68b5b9519d
11:108163520 ATM G>A	11	108163520	108163520	G	A	ATM	c.4611G>A	NM_000051.4	NP_000042.3:p.(Gln1537=)	NC_000011.9:g.108163520G>A	(Likely) pathogenic	2 labs	68c0b781cb
7:128490126 FLNC T>C	7	128490126	128490126	T	C	FLNC	c.5296T>C	NM_001458.5	NP_001449.3:p.(Trp1766Arg)	NC_000007.13:g.128490126T>C	VUS	2 labs	68c3efcd40
2:182413259 CERKL A>G	2	182413259	182413259	A	G	CERKL	c.1211+13T>C	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182413259A>G	(Likely) benign	2 labs	68f5f349fd
6:49425703 MMUT G>A	6	49425703	49425703	G	A	MMUT	c.454C>T	NM_000255.4	NP_000246.2:p.(Arg152Ter)	NC_000006.11:g.49425703G>A	(Likely) pathogenic	2 labs	69042fb86b
2:179621477 TTN C>T	2	179621477	179621477	C	T	TTN	c.10726=	NM_001267550.2	NP_001254479.2:p.(Thr3576=)	NC_000002.11:g.179621477C>T	(Likely) benign	2 labs	6909727791
22:19870857 TXNRD2 G>A	22	19870857	19870857	G	A	TXNRD2	c.1077C>T	NM_006440.5	NP_006431.2:p.(Asp359=)	NC_000022.10:g.19870857G>A	(Likely) benign	2 labs	692badb94b
8:55541617 RP1 A>G	8	55541617	55541617	A	G	RP1	c.5175A>G	NM_006269.2	NP_006260.1:p.(Gln1725=)	NC_000008.10:g.55541617A>G	(Likely) benign	2 labs	692e8eb68c
2:179528017 TTN T>C	2	179528017	179528017	T	C	TTN	c.36676A>G	NM_001267550.2	NP_001254479.2:p.(Lys12226Glu)	NC_000002.11:g.179528017T>C	(Likely) benign	5 labs	6932c6427f
1:100672060 DBT T>C	1	100672060	100672060	T	C	DBT	c.1150A>G	NM_001918.5	NP_001909.4:p.(Ser384Gly)	NC_000001.10:g.100672060T>C	(Likely) benign	3 labs	6939ac0b89
15:45661678 GATM T>A	15	45661678	45661678	T	A	GATM	c.330A>T	NM_001482.3	NP_001473.1:p.(Gln110His)	NC_000015.9:g.45661678T>A	(Likely) benign	3 labs	693b314ad3
7:128486940 FLNC C>T	7	128486940	128486940	C	T	FLNC	c.4269C>T	NM_001458.5	NP_001449.3:p.(Phe1423=)	NC_000007.13:g.128486940C>T	(Likely) benign	2 labs	693eb23ce8
1:3321299 PRDM16 G>A	1	3321299	3321299	G	A	PRDM16	c.885-4G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3321299G>A	(Likely) benign	5 labs	694ec8de2d
2:179457531 TTN G>A	2	179457531	179457531	G	A	TTN	c.59315C>T	NM_001267550.2	NP_001254479.2:p.(Pro19772Leu)	NC_000002.11:g.179457531G>A	(Likely) benign	4 labs	69508003ca
7:138418910 ATP6V0A4 G>A	7	138418910	138418910	G	A	ATP6V0A4	c.1662C>T	NM_020632.3	NP_065683.2:p.(Phe554=)	NC_000007.13:g.138418910G>A	(Likely) benign	2 labs	695783e2f6
12:21958221 ABCC9 C>T	12	21958221	21958221	C	T	ABCC9	c.4537G>A	NM_005691.4	NP_005682.2:p.(Ala1513Thr)	NC_000012.11:g.21958221C>T	(Likely) pathogenic	3 labs	695c80f4aa
3:25679788 TOP2B T>C	3	25679788	25679788	T	C	TOP2B	c.394A>G	NM_001068.3	NP_001059.2:p.(Ile132Val)	NC_000003.11:g.25679788T>C	VUS	2 labs	6961edf494
8:144999599 PLEC G>A	8	144999599	144999599	G	A	PLEC	c.4579C>T	NM_000445.5	NP_000436.2:p.(Arg1527Trp)	NC_000008.10:g.144999599G>A	VUS	2 labs	6969e9f035
9:6645448 GLDC C>A	9	6645448	6645448	C	A	GLDC	c.52G>T	NM_000170.3	NP_000161.2:p.(Gly18Cys)	NC_000009.11:g.6645448C>A	(Likely) benign	3 labs	696a04347c
13:60240829 DIAPH3 C>T	13	60240829	60240829	C	T	DIAPH3	c.3471G>A	NM_001042517.2	NP_001035982.1:p.(Ala1157=)	NC_000013.10:g.60240829C>T	(Likely) benign	2 labs	69726f793d
2:220290457 DES G>A	2	220290457	220290457	G	A	DES	c.1361G>A	NM_001927.4	NP_001918.3:p.(Arg454Gln)	NC_000002.11:g.220290457G>A	VUS	2 labs	698f04e24c
19:11221454 LDLR T>C	19	11221454	11221454	T	C	LDLR	c.1060+7T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221454T>C	(Likely) benign	2 labs	698f89626f
11:108201008 ATM C>T	11	108201008	108201008	C	T	ATM	c.7375C>T	NM_000051.4	NP_000042.3:p.(Arg2459Cys)	NC_000011.9:g.108201008C>T	VUS	3 labs	699b7bc259
X:100662768 GLA T>C	X	100662768	100662768	T	C	GLA	c.124A>G	NM_000169.3	NP_000160.1:p.(Met42Val)	NC_000023.10:g.100662768T>C	(Likely) pathogenic	2 labs	69a2cb43c5
2:48010355 MSH6 G>T	2	48010355	48010355	G	T	MSH6	c.-18G>T	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48010355G>T	(Likely) benign	2 labs	69a5b2157a
1:97544627 DPYD C>A	1	97544627	97544627	C	A	DPYD	c.2983G>T	NM_000110.4	NP_000101.2:p.(Val995Phe)	NC_000001.10:g.97544627C>A	(Likely) pathogenic	2 labs	69a7719dd5
21:45712977 AIRE T>C	21	45712977	45712977	T	C	AIRE	c.1197T>C	NM_000383.4	NP_000374.1:p.(Ala399=)	NC_000021.8:g.45712977T>C	(Likely) benign	3 labs	69a77a78cb
4:5630349 EVC2 C>T	4	5630349	5630349	C	T	EVC2	c.1823G>A	NM_147127.5	NP_667338.3:p.(Arg608His)	NC_000004.11:g.5630349C>T	(Likely) benign	2 labs	69c05363e2
11:121000784 TECTA T>C	11	121000784	121000784	T	C	TECTA	c.2805T>C	NM_005422.4	NP_005413.2:p.(Tyr935=)	NC_000011.9:g.121000784T>C	(Likely) benign	2 labs	69c9cb95e5
13:32900700 BRCA2 G>A	13	32900700	32900700	G	A	BRCA2	c.581G>A	NM_000059.4	NP_000050.3:p.(Trp194Ter)	NC_000013.10:g.32900700G>A	(Likely) pathogenic	3 labs	69d1a129ee
17:73725378 ITGB4 C>T	17	73725378	73725378	C	T	ITGB4	c.599C>T	NM_000213.5	NP_000204.3:p.(Pro200Leu)	NC_000017.10:g.73725378C>T	VUS	2 labs	69d1f2f60e
1:237060433 MTR G>T	1	237060433	237060433	G	T	MTR	c.3711+15G>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060433G>T	(Likely) benign	2 labs	69d582da6e
12:49434355 KMT2D G>C	12	49434355	49434355	G	C	KMT2D	c.7198C>G	NM_003482.4	NP_003473.3:p.(Pro2400Ala)	NC_000012.11:g.49434355G>C	(Likely) benign	2 labs	69e0b1e58e
X:153296460 MECP2 C>A	X	153296460	153296460	C	A	MECP2	c.819G>T	NM_004992.4	NP_004983.1:p.(Gly273=)	NC_000023.10:g.153296460C>A	(Likely) benign	4 labs	69e8bdd4f7
13:32893246 BRCA2 G>T	13	32893246	32893246	G	T	BRCA2	c.100G>T	NM_000059.4	NP_000050.3:p.(Glu34Ter)	NC_000013.10:g.32893246G>T	(Likely) pathogenic	4 labs	69e9445e91
13:32912582 BRCA2 A>C	13	32912582	32912582	A	C	BRCA2	c.4090A>C	NM_000059.4	NP_000050.3:p.(Ile1364Leu)	NC_000013.10:g.32912582A>C	(Likely) benign	7 labs	69f50389f8
6:129759786 LAMA2 C>T	6	129759786	129759786	C	T	LAMA2	c.5969-5C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129759786C>T	(Likely) benign	2 labs	739262e792
3:15686731 BTD A>C	3	15686731	15686731	A	C	BTD	c.1308A>C	NM_001281723.3	NP_001268652.2:p.(Gln436His)	NC_000003.11:g.15686731A>C	(Likely) pathogenic	6 labs	69f5bcca02
12:110032947 MVK G>A	12	110032947	110032947	G	A	MVK	c.1000G>A	NM_000431.4	NP_000422.1:p.(Ala334Thr)	NC_000012.11:g.110032947G>A	(Likely) pathogenic	6 labs	6a0789921a
2:47639552 MSH2 G>C	2	47639552	47639552	G	C	MSH2	c.646-1G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47639552G>C	(Likely) pathogenic	2 labs	6a0c7a781b
X:76953085 ATRX C>T	X	76953085	76953085	C	T	ATRX	c.228G>A	NM_000489.6	NP_000480.3:p.(Ser76=)	NC_000023.10:g.76953085C>T	(Likely) benign	3 labs	6a3a3a8fee
16:88793320 PIEZO1 A>C	16	88793320	88793320	A	C	PIEZO1	c.3502T>G	NM_001142864.4	NP_001136336.2:p.(Trp1168Gly)	NC_000016.9:g.88793320A>C	VUS	2 labs	6a3a5337d9
20:42814955 JPH2 A>C	20	42814955	42814955	A	C	JPH2	c.379+12T>G	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42814955A>C	(Likely) benign	2 labs	6a3f9f383c
3:30713126 TGFBR2 T>A	3	30713126	30713126	T	A	TGFBR2	c.530-4T>A	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30713126T>A	(Likely) benign	4 labs	6a554592f5
18:29104698 DSG2 C>T	18	29104698	29104698	C	T	DSG2	c.861C>T	NM_001943.5	NP_001934.2:p.(Asn287=)	NC_000018.9:g.29104698C>T	(Likely) benign	5 labs	6a7a084723
22:29130471 CHEK2 G>T	22	29130471	29130471	G	T	CHEK2	c.239C>A	NM_007194.4	NP_009125.1:p.(Pro80His)	NC_000022.10:g.29130471G>T	VUS	2 labs	6a926591f5
10:48414003 GDF2 T>A	10	48414003	48414003	T	A	GDF2	c.865A>T	NM_016204.4	NP_057288.1:p.(Lys289Ter)	NC_000010.10:g.48414003T>A	(Likely) pathogenic	2 labs	6a94cac924
5:140907266 DIAPH1 T>TA	5	140907266	140907289	T	TA	DIAPH1	c.3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907289dup	(Likely) benign	3 labs	6aa72ec830
2:179559353 TTN C>T	2	179559353	179559353	C	T	TTN	c.31399G>A	NM_001267550.2	NP_001254479.2:p.(Val10467Ile)	NC_000002.11:g.179559353C>T	(Likely) benign	6 labs	6aaba9ae0e
10:75864953 VCL G>A	10	75864953	75864953	G	A	VCL	c.2276G>A	NM_014000.3	NP_054706.1:p.(Arg759Gln)	NC_000010.10:g.75864953G>A	VUS	4 labs	6ab5848bba
7:103155705 RELN A>G	7	103155705	103155705	A	G	RELN	c.8046T>C	NM_005045.4	NP_005036.2:p.(His2682=)	NC_000007.13:g.103155705A>G	(Likely) benign	2 labs	6ab5c4eb96
2:179641484 TTN G>T	2	179641484	179641484	G	T	TTN	c.5107C>A	NM_001267550.2	NP_001254479.2:p.(Pro1703Thr)	NC_000002.11:g.179641484G>T	VUS	2 labs	6ab68ffbdb
X:99662827 PCDH19 C>G	X	99662827	99662827	C	G	PCDH19	c.769G>C	NM_001184880.2	NP_001171809.1:p.(Val257Leu)	NC_000023.10:g.99662827C>G	(Likely) benign	4 labs	6ab7888913
2:88892829 EIF2AK3 T>G	2	88892829	88892829	T	G	EIF2AK3	c.728A>C	NM_004836.7	NP_004827.4:p.(Lys243Thr)	NC_000002.11:g.88892829T>G	VUS	2 labs	6ac198325e
12:21958998 ABCC9 CAA>C	12	21958998	21959010	CAA	C	ABCC9	c.4450-6_4450-5del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21959009_21959010del	(Likely) benign	2 labs	6ac52ac4f3
1:8029446 PARK7 C>T	1	8029446	8029446	C	T	PARK7	c.234C>T	NM_007262.5	NP_009193.2:p.(Gly78=)	NC_000001.10:g.8029446C>T	(Likely) benign	3 labs	6acae6eb65
4:123193537 BLTP1 T>G	4	123193537	123193537	T	G	BLTP1	c.8423T>G	NM_015312.4	NP_056127.2:p.(Phe2808Cys)	NC_000004.11:g.123193537T>G	VUS	2 labs	6acc4c8705
2:84670528 SUCLG1 A>G	2	84670528	84670528	A	G	SUCLG1	c.202-4T>C	NM_003849.4	NP_003840.2:p.?	NC_000002.11:g.84670528A>G	(Likely) benign	2 labs	6ad0eddc08
X:47315782 ZNF41 C>T	X	47315782	47315782	C	T	ZNF41	c.88G>A	NM_153380.3	NP_700359.1:p.(Glu30Lys)	NC_000023.10:g.47315782C>T	(Likely) benign	2 labs	6ad68f6dfa
14:97321689 VRK1 C>T	14	97321689	97321689	C	T	VRK1	c.705C>T	NM_003384.3	NP_003375.1:p.(Gly235=)	NC_000014.8:g.97321689C>T	(Likely) benign	2 labs	6ad8d082bb
17:44248815 KANSL1 G>C	17	44248815	44248815	G	C	KANSL1	c.695C>G	NM_001193466.2	NP_001180395.1:p.(Ser232Cys)	NC_000017.10:g.44248815G>C	VUS	2 labs	6ad9868237
2:179597847 TTN A>G	2	179597847	179597847	A	G	TTN	c.16056T>C	NM_001267550.2	NP_001254479.2:p.(Asp5352=)	NC_000002.11:g.179597847A>G	(Likely) benign	2 labs	6aeea8ee4e
18:25572729 CDH2 G>C	18	25572729	25572729	G	C	CDH2	c.1234C>G	NM_001792.5	NP_001783.2:p.(His412Asp)	NC_000018.9:g.25572729G>C	VUS	2 labs	6af5a4c625
5:131721174 SLC22A5 A>G	5	131721174	131721174	A	G	SLC22A5	c.807A>G	NM_003060.4	NP_003051.1:p.(Leu269=)	NC_000005.9:g.131721174A>G	(Likely) benign	2 labs	6af7c38147
19:45856370 ERCC2 C>T	19	45856370	45856370	C	T	ERCC2	c.1802G>A	NM_000400.4	NP_000391.1:p.(Arg601Gln)	NC_000019.9:g.45856370C>T	VUS	3 labs	6afc641b21
9:2191388 SMARCA2 G>A	9	2191388	2191388	G	A	SMARCA2	c.4717G>A	NM_003070.5	NP_003061.3:p.(Asp1573Asn)	NC_000009.11:g.2191388G>A	(Likely) benign	2 labs	6afddc9c80
17:10541644 MYH3 C>G	17	10541644	10541644	C	G	MYH3	c.3445G>C	NM_002470.4	NP_002461.2:p.(Glu1149Gln)	NC_000017.10:g.10541644C>G	VUS	3 labs	6b0b291feb
12:112926885 PTPN11 C>T	12	112926885	112926885	C	T	PTPN11	c.1505C>T	NM_002834.5	NP_002825.3:p.(Ser502Leu)	NC_000012.11:g.112926885C>T	(Likely) pathogenic	3 labs	6b2021e69b
1:120612006 NOTCH2 G>A	1	120612006	120612006	G	A	NOTCH2	c.15C>T	NM_024408.4	NP_077719.2:p.(Arg5=)	NC_000001.10:g.120612006G>A	(Likely) benign	4 labs	6b35c1cd4f
1:147231061 GJA5 C>A	1	147231061	147231061	C	A	GJA5	c.286G>T	NM_005266.7	NP_005257.2:p.(Ala96Ser)	NC_000001.10:g.147231061C>A	VUS	5 labs	6b3f1a5f41
20:44520237 CTSA CCTG>C	20	44520237	44520263	CCTG	C	CTSA	c.54_56del	NM_001127695.2	NP_001121167.1:p.(Leu19del)	NC_000020.10:g.44520261_44520263del	(Likely) benign	4 labs	6b426e7093
6:129612808 LAMA2 A>G	6	129612808	129612808	A	G	LAMA2	c.2799A>G	NM_000426.4	NP_000417.3:p.(Gln933=)	NC_000006.11:g.129612808A>G	(Likely) benign	3 labs	6b4f6d1b1b
1:213068404 FLVCR1 T>C	1	213068404	213068404	T	C	FLVCR1	c.1593+9T>C	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213068404T>C	(Likely) benign	4 labs	6b57724d2d
15:85400564 ALPK3 C>T	15	85400564	85400564	C	T	ALPK3	c.2595C>T	NM_020778.5	NP_065829.4:p.(Pro865=)	NC_000015.9:g.85400564C>T	(Likely) benign	5 labs	6b5d0d9a1d
X:66765158 AR T>TGCA	X	66765158	66765227	T	TGCA	AR	c.237_239dup	NM_000044.6	NP_000035.2:p.(Gln80dup)	NC_000023.10:g.66765225_66765227dup	(Likely) benign	4 labs	6b6ca10401
2:166897864 SCN1A A>G	2	166897864	166897864	A	G	SCN1A	c.2292T>C	NM_001202435.3	NP_001189364.1:p.(Val764=)	NC_000002.11:g.166897864A>G	(Likely) benign	2 labs	6b7ac22ab6
1:116310967 CASQ2 T>C	1	116310967	116310967	T	C	CASQ2	c.196A>G	NM_001232.4	NP_001223.2:p.(Thr66Ala)	NC_000001.10:g.116310967T>C	(Likely) benign	3 labs	6b7b28ff8a
6:170871049 TBP G>GCAA	6	170871049	170871052	G	GCAA	TBP	c.227_228insACA	NM_003194.5	NP_003185.1:p.(Gln95dup)	NC_000006.11:g.170871051_170871052insACA	(Likely) benign	4 labs	6b92915e2b
7:73470714 ELN G>A	7	73470714	73470714	G	A	ELN	c.1264G>A	NM_001278939.2	NP_001265868.1:p.(Gly422Ser)	NC_000007.13:g.73470714G>A	(Likely) benign	2 labs	6b9ee74d5d
8:63978527 TTPA CA>C	8	63978527	63978529	CA	C	TTPA	c.487del	NM_000370.3	NP_000361.1:p.(Trp163GlyfsTer13)	NC_000008.10:g.63978529del	(Likely) pathogenic	2 labs	6bbd3d967f
4:152680029 GATB C>G	4	152680029	152680029	C	G	GATB	c.222G>C	NM_004564.3	NP_004555.1:p.(Gln74His)	NC_000004.11:g.152680029C>G	VUS	2 labs	6bc989fbfe
14:23897049 MYH7 C>T	14	23897049	23897049	C	T	MYH7	c.1633G>A	NM_000257.4	NP_000248.2:p.(Asp545Asn)	NC_000014.8:g.23897049C>T	(Likely) pathogenic	4 labs	6bd15b6f3f
20:6759005 BMP2 C>T	20	6759005	6759005	C	T	BMP2	c.460C>T	NM_001200.4	NP_001191.1:p.(Arg154Ter)	NC_000020.10:g.6759005C>T	(Likely) pathogenic	3 labs	6bd1922a9a
X:100653000 GLA G>A	X	100653000	100653000	G	A	GLA	c.1087C>T	NM_000169.3	NP_000160.1:p.(Arg363Cys)	NC_000023.10:g.100653000G>A	(Likely) pathogenic	2 labs	6be38734a7
11:103229027 DYNC2H1 T>C	11	103229027	103229027	T	C	DYNC2H1	c.12117T>C	NM_001080463.2	NP_001073932.1:p.(Asp4039=)	NC_000011.9:g.103229027T>C	(Likely) benign	3 labs	6be98bf4e7
8:141461185 TRAPPC9 A>G	8	141461185	141461185	A	G	TRAPPC9	c.288T>C	NM_031466.8	NP_113654.5:p.(Phe96=)	NC_000008.10:g.141461185A>G	(Likely) benign	2 labs	6bfa722e7c
18:59739962 PIGN T>TAA	18	59739962	59739975	T	TAA	PIGN	c.2620-6_2620-5dup	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59739974_59739975dup	(Likely) benign	2 labs	6c00f22f3f
14:23857395 MYH6 G>T	14	23857395	23857395	G	T	MYH6	c.4328C>A	NM_002471.4	NP_002462.2:p.(Ala1443Asp)	NC_000014.8:g.23857395G>T	VUS	4 labs	6c03f96f1f
15:85382228 ALPK3 G>A	15	85382228	85382228	G	A	ALPK3	c.322G>A	NM_020778.5	NP_065829.4:p.(Val108Met)	NC_000015.9:g.85382228G>A	VUS	2 labs	6c047c15b4
3:38674795 SCN5A C>T	3	38674795	38674795	C	T	SCN5A	c.4G>A	NM_198056.3	NP_932173.1:p.(Ala2Thr)	NC_000003.11:g.38674795C>T	VUS	2 labs	6c06fd0861
2:179446924 TTN G>A	2	179446924	179446924	G	A	TTN	c.66172C>T	NM_001267550.2	NP_001254479.2:p.(Arg22058Cys)	NC_000002.11:g.179446924G>A	VUS	2 labs	76bf6db837
16:77359919 ADAMTS18 A>T	16	77359919	77359919	A	T	ADAMTS18	c.1876T>A	NM_199355.4	NP_955387.1:p.(Leu626Ile)	NC_000016.9:g.77359919A>T	(Likely) benign	2 labs	6c303906d8
22:51117580 SHANK3 T>C	22	51117580	51117580	T	C	SHANK3	c.959T>C	NM_001372044.2	NP_001358973.1:p.(Ile320Thr)	NC_000022.10:g.51117580T>C	(Likely) benign	2 labs	6c561bdb71
18:28662950 DSC2 G>T	18	28662950	28662950	G	T	DSC2	c.1019C>A	NM_024422.6	NP_077740.1:p.(Thr340Asn)	NC_000018.9:g.28662950G>T	VUS	2 labs	6c5b94a227
2:228560800 SLC19A3 GA>G	2	228560800	228560808	GA	G	SLC19A3	c.980-4del	NM_025243.4	NP_079519.1:p.?	NC_000002.11:g.228560808del	(Likely) benign	2 labs	6c5d452ad5
4:119273712 PRSS12 C>G	4	119273712	119273712	C	G	PRSS12	c.164G>C	NM_003619.4	NP_003610.2:p.(Arg55Thr)	NC_000004.11:g.119273712C>G	(Likely) benign	2 labs	6c69a13762
1:44386615 ST3GAL3 A>G	1	44386615	44386615	A	G	ST3GAL3	c.1245+15A>G	NM_174963.5	NP_777623.2:p.?	NC_000001.10:g.44386615A>G	(Likely) benign	2 labs	6c6c1a2984
11:47353695 MYBPC3 C>T	11	47353695	47353695	C	T	MYBPC3	c.3742G>A	NM_000256.3	NP_000247.2:p.(Gly1248Arg)	NC_000011.9:g.47353695C>T	VUS	2 labs	6c706be3e4
4:996690 IDUA G>A	4	996690	996690	G	A	IDUA	c.1360G>A	NM_000203.5	NP_000194.2:p.(Val454Ile)	NC_000004.11:g.996690G>A	(Likely) benign	4 labs	6c73344f99
20:35545404 SAMHD1 C>G	20	35545404	35545404	C	G	SAMHD1	c.901G>C	NM_015474.4	NP_056289.2:p.(Val301Leu)	NC_000020.10:g.35545404C>G	VUS	2 labs	6c7bb5f4e5
18:28648897 DSC2 G>A	18	28648897	28648897	G	A	DSC2	c.2471C>T	NM_024422.6	NP_077740.1:p.(Ser824Leu)	NC_000018.9:g.28648897G>A	VUS	2 labs	6c7c465812
13:110864225 COL4A1 A>T	13	110864225	110864225	A	T	COL4A1	c.432T>A	NM_001845.6	NP_001836.3:p.(Ala144=)	NC_000013.10:g.110864225A>T	(Likely) benign	4 labs	6c82112603
2:179606590 TTN T>C	2	179606590	179606590	T	C	TTN	c.11370A>G	NM_001267550.2	NP_001254479.2:p.(Gln3790=)	NC_000002.11:g.179606590T>C	(Likely) benign	6 labs	6c8ae89389
17:41277285 BRCA1 T>C	17	41277285	41277285	T	C	BRCA1	c.-20+3A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277285T>C	VUS	2 labs	6c8eb766de
17:41244435 BRCA1 T>C	17	41244435	41244435	T	C	BRCA1	c.3113A>G	NM_007294.4	NP_009225.1:p.(Glu1038Gly)	NC_000017.10:g.41244435T>C	(Likely) benign	7 labs	6c98aebfb3
1:237811889 RYR2 C>T	1	237811889	237811889	C	T	RYR2	c.7488C>T	NM_001035.3	NP_001026.2:p.(Leu2496=)	NC_000001.10:g.237811889C>T	(Likely) benign	5 labs	6c992e294c
2:179640894 TTN G>A	2	179640894	179640894	G	A	TTN	c.5697C>T	NM_001267550.2	NP_001254479.2:p.(Ile1899=)	NC_000002.11:g.179640894G>A	(Likely) benign	4 labs	6ccd07df7f
1:207930549 CD46 T>G	1	207930549	207930549	T	G	CD46	c.286+2T>G	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207930549T>G	(Likely) pathogenic	2 labs	6cdd18a3c7
16:68771372 CDH1 C>T	16	68771372	68771372	C	T	CDH1	c.48+6C>T	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68771372C>T	(Likely) benign	2 labs	77d6dd21f4
2:179422412 TTN A>G	2	179422412	179422412	A	G	TTN	c.87669T>C	NM_001267550.2	NP_001254479.2:p.(His29223=)	NC_000002.11:g.179422412A>G	(Likely) benign	4 labs	6cfdc84204
8:10467636 RP1L1 T>C	8	10467636	10467636	T	C	RP1L1	c.3972A>G	NM_178857.6	NP_849188.4:p.(Glu1324=)	NC_000008.10:g.10467636T>C	(Likely) benign	3 labs	6cfe90522f
11:47369230 MYBPC3 T>A	11	47369230	47369230	T	A	MYBPC3	c.823A>T	NM_000256.3	NP_000247.2:p.(Ser275Cys)	NC_000011.9:g.47369230T>A	VUS	2 labs	6cfea04cef
7:103197603 RELN G>A	7	103197603	103197603	G	A	RELN	c.5618C>T	NM_005045.4	NP_005036.2:p.(Thr1873Ile)	NC_000007.13:g.103197603G>A	(Likely) benign	5 labs	6d083fea2c
2:179466289 TTN C>T	2	179466289	179466289	C	T	TTN	c.55435G>A	NM_001267550.2	NP_001254479.2:p.(Val18479Ile)	NC_000002.11:g.179466289C>T	(Likely) benign	2 labs	6d134f8d04
6:43014299 CUL7 T>C	6	43014299	43014299	T	C	CUL7	c.2534A>G	NM_001168370.2	NP_001161842.2:p.(Gln845Arg)	NC_000006.11:g.43014299T>C	(Likely) benign	2 labs	6d19d4df8a
11:47370034 MYBPC3 C>T	11	47370034	47370034	C	T	MYBPC3	c.713G>A	NM_000256.3	NP_000247.2:p.(Arg238His)	NC_000011.9:g.47370034C>T	VUS	5 labs	6d1d9bc941
15:85402548 ALPK3 T>C	15	85402548	85402548	T	C	ALPK3	c.3892T>C	NM_020778.5	NP_065829.4:p.(Phe1298Leu)	NC_000015.9:g.85402548T>C	VUS	2 labs	6d31d070f0
2:179615278 TTN A>G	2	179615278	179615278	A	G	TTN	c.11849T>C	NM_133379.5	NP_596870.2:p.(Ile3950Thr)	NC_000002.11:g.179615278A>G	(Likely) benign	6 labs	6d3aa97671
10:88477747 LDB3 G>A	10	88477747	88477747	G	A	LDB3	c.1718G>A	NM_001171610.2	NP_001165081.1:p.(Arg573His)	NC_000010.10:g.88477747G>A	VUS	2 labs	6d3b8b9ec8
13:52520435 ATP7B C>T	13	52520435	52520435	C	T	ATP7B	c.3045G>A	NM_000053.4	NP_000044.2:p.(Leu1015=)	NC_000013.10:g.52520435C>T	(Likely) benign	4 labs	6d46056af6
2:179400060 TTN C>T	2	179400060	179400060	C	T	TTN	c.101282G>A	NM_001267550.2	NP_001254479.2:p.(Arg33761Gln)	NC_000002.11:g.179400060C>T	VUS	2 labs	6d4682e6f4
7:92131289 PEX1 G>T	7	92131289	92131289	G	T	PEX1	c.2331C>A	NM_000466.3	NP_000457.1:p.(Gly777=)	NC_000007.13:g.92131289G>T	(Likely) benign	4 labs	6d5ab64ab5
18:19371521 MIB1 A>G	18	19371521	19371521	A	G	MIB1	c.1092+3A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19371521A>G	(Likely) benign	4 labs	6d5c57a67e
1:236925786 ACTN2 G>A	1	236925786	236925786	G	A	ACTN2	c.1928G>A	NM_001278344.2	NP_001265273.1:p.(Arg643His)	NC_000001.10:g.236925786G>A	VUS	2 labs	6d63e843dd
16:57937895 CNGB1 G>A	16	57937895	57937895	G	A	CNGB1	c.2635-10C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57937895G>A	(Likely) benign	2 labs	6d693af125
16:23634303 PALB2 C>T	16	23634303	23634303	C	T	PALB2	c.2983G>A	NM_024675.4	NP_078951.2:p.(Ala995Thr)	NC_000016.9:g.23634303C>T	VUS	2 labs	6d9b57e170
11:76917220 MYO7A A>G	11	76917220	76917220	A	G	MYO7A	c.5715A>G	NM_000260.4	NP_000251.3:p.(Lys1905=)	NC_000011.9:g.76917220A>G	(Likely) benign	2 labs	6db13a0176
16:89178531 ACSF3 C>T	16	89178531	89178531	C	T	ACSF3	c.854C>T	NM_001243279.3	NP_001230208.1:p.(Pro285Leu)	NC_000016.9:g.89178531C>T	(Likely) benign	2 labs	6db8603ef1
2:179459250 TTN C>T	2	179459250	179459250	C	T	TTN	c.57971G>A	NM_001267550.2	NP_001254479.2:p.(Arg19324Gln)	NC_000002.11:g.179459250C>T	VUS	2 labs	7931b6c6e9
1:43408984 SLC2A1 C>T	1	43408984	43408984	C	T	SLC2A1	c.27G>A	NM_006516.4	NP_006507.2:p.(Thr9=)	NC_000001.10:g.43408984C>T	(Likely) benign	4 labs	6dba139044
7:117232266 CFTR CA>C	7	117232266	117232273	CA	C	CFTR	c.2052del	NM_000492.4	NP_000483.3:p.(Lys684AsnfsTer38)	NC_000007.13:g.117232273del	(Likely) pathogenic	3 labs	6dc8590b14
12:32949042 PKP2 C>T	12	32949042	32949042	C	T	PKP2	c.2489+1G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949042C>T	(Likely) pathogenic	6 labs	6dd63dfa6e
4:77631410 SHROOM3 C>A	4	77631410	77631410	C	A	SHROOM3	c.425C>A	NM_020859.4	NP_065910.3:p.(Ser142Ter)	NC_000004.11:g.77631410C>A	VUS	2 labs	6dd7b8931b
17:8132763 CTC1 T>C	17	8132763	8132763	T	C	CTC1	c.3013A>G	NM_025099.6	NP_079375.3:p.(Ile1005Val)	NC_000017.10:g.8132763T>C	(Likely) benign	2 labs	6de59d00d6
5:178540975 ADAMTS2 G>A	5	178540975	178540975	G	A	ADAMTS2	c.3529C>T	NM_014244.5	NP_055059.2:p.(Pro1177Ser)	NC_000005.9:g.178540975G>A	(Likely) benign	2 labs	6deec846a4
21:44589243 CRYAA C>T	21	44589243	44589243	C	T	CRYAA	c.34C>T	NM_000394.4	NP_000385.1:p.(Arg12Cys)	NC_000021.8:g.44589243C>T	(Likely) pathogenic	3 labs	6df1ee1bf3
13:32914349 BRCA2 G>T	13	32914349	32914349	G	T	BRCA2	c.5857G>T	NM_000059.4	NP_000050.3:p.(Glu1953Ter)	NC_000013.10:g.32914349G>T	(Likely) pathogenic	5 labs	6df635f159
8:90993640 NBN C>T	8	90993640	90993640	C	T	NBN	c.37G>A	NM_001024688.3	NP_001019859.1:p.(Asp13Asn)	NC_000008.10:g.90993640C>T	(Likely) benign	3 labs	6df95f0060
3:14180731 TMEM43 C>T	3	14180731	14180731	C	T	TMEM43	c.934C>T	NM_024334.3	NP_077310.1:p.(Arg312Trp)	NC_000003.11:g.14180731C>T	(Likely) benign	6 labs	6e02d4fbcc
8:59404256 CYP7A1 C>A	8	59404256	59404256	C	A	CYP7A1	c.1293G>T	NM_000780.4	NP_000771.2:p.(Lys431Asn)	NC_000008.10:g.59404256C>A	VUS	2 labs	6e04bb376b
14:23872666 MYH6 T>C	14	23872666	23872666	T	C	MYH6	c.800-11A>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872666T>C	(Likely) benign	4 labs	6e1071e688
5:178634683 ADAMTS2 C>T	5	178634683	178634683	C	T	ADAMTS2	c.722G>A	NM_014244.5	NP_055059.2:p.(Arg241His)	NC_000005.9:g.178634683C>T	(Likely) benign	2 labs	6e14db399a
18:52896230 TCF4 C>T	18	52896230	52896230	C	T	TCF4	c.1727G>A	NM_001083962.2	NP_001077431.1:p.(Arg576Gln)	NC_000018.9:g.52896230C>T	(Likely) pathogenic	2 labs	6e15c4b2a3
16:17235168 XYLT1 G>A	16	17235168	17235168	G	A	XYLT1	c.1429C>T	NM_022166.4	NP_071449.1:p.(Arg477Cys)	NC_000016.9:g.17235168G>A	VUS	3 labs	6e1d72f17c
18:56010163 NEDD4L G>A	18	56010163	56010163	G	A	NEDD4L	c.1343G>A	NM_015277.6	NP_056092.2:p.(Arg448Gln)	NC_000018.9:g.56010163G>A	(Likely) benign	2 labs	6e217e8245
16:70977714 HYDIN C>T	16	70977714	70977714	C	T	HYDIN	c.6669+1G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70977714C>T	(Likely) pathogenic	2 labs	6e29178c3d
12:114804117 TBX5 G>A	12	114804117	114804117	G	A	TBX5	c.835C>T	NM_000192.3	NP_000183.2:p.(Arg279Ter)	NC_000012.11:g.114804117G>A	(Likely) pathogenic	2 labs	6e37122a4b
2:179611934 TTN G>A	2	179611934	179611934	G	A	TTN	c.15193C>T	NM_133379.5	NP_596870.2:p.(Pro5065Ser)	NC_000002.11:g.179611934G>A	(Likely) benign	3 labs	6e3912de8e
11:108164091 ATM C>T	11	108164091	108164091	C	T	ATM	c.4663C>T	NM_000051.4	NP_000042.3:p.(Leu1555Phe)	NC_000011.9:g.108164091C>T	VUS	2 labs	6e42f72ee2
2:179464169 TTN C>T	2	179464169	179464169	C	T	TTN	c.56351G>A	NM_001267550.2	NP_001254479.2:p.(Arg18784His)	NC_000002.11:g.179464169C>T	VUS	4 labs	6e630a6485
5:178770981 ADAMTS2 A>G	5	178770981	178770981	A	G	ADAMTS2	c.321T>C	NM_014244.5	NP_055059.2:p.(Ser107=)	NC_000005.9:g.178770981A>G	(Likely) benign	2 labs	6e6cfa44ba
22:50303575 ALG12 G>A	22	50303575	50303575	G	A	ALG12	c.631C>T	NM_024105.4	NP_077010.1:p.(Arg211Cys)	NC_000022.10:g.50303575G>A	(Likely) benign	2 labs	6e75bc93cc
8:61750395 CHD7 G>A	8	61750395	61750395	G	A	CHD7	c.4353+1G>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61750395G>A	(Likely) pathogenic	2 labs	6e7a1f2dd9
20:44746982 CD40 T>C	20	44746982	44746982	T	C	CD40	c.-1T>C	NM_001250.6	NP_001241.1:p.?	NC_000020.10:g.44746982T>C	(Likely) benign	2 labs	6e8066e81e
X:62926172 ARHGEF9 C>T	X	62926172	62926172	C	T	ARHGEF9	c.347G>A	NM_015185.3	NP_056000.1:p.(Arg116His)	NC_000023.10:g.62926172C>T	VUS	2 labs	6e8aafd753
3:158366900 GFM1 G>A	3	158366900	158366900	G	A	GFM1	c.643G>A	NM_024996.7	NP_079272.4:p.(Val215Ile)	NC_000003.11:g.158366900G>A	(Likely) benign	2 labs	6e983f4113
14:23884999 MYH7 C>T	14	23884999	23884999	C	T	MYH7	c.4996G>A	NM_000257.4	NP_000248.2:p.(Asp1666Asn)	NC_000014.8:g.23884999C>T	VUS	3 labs	6eaa2f6fc7
16:2167874 PKD1 G>A	16	2167874	2167874	G	A	PKD1	c.1119C>T	NM_001009944.3	NP_001009944.3:p.(Leu373=)	NC_000016.9:g.2167874G>A	(Likely) benign	4 labs	6eb513fcf0
1:16375064 CLCNKB A>C	1	16375064	16375064	A	C	CLCNKB	c.642A>C	NM_000085.5	NP_000076.2:p.(Ala214=)	NC_000001.10:g.16375064A>C	(Likely) benign	2 labs	6ec00a3266
19:38968446 RYR1 G>A	19	38968446	38968446	G	A	RYR1	c.4390G>A	NM_000540.3	NP_000531.2:p.(Asp1464Asn)	NC_000019.9:g.38968446G>A	VUS	2 labs	6eca0d178d
3:38592196 SCN5A G>A	3	38592196	38592196	G	A	SCN5A	c.5667C>T	NM_001099404.2	NP_001092874.1:p.(Tyr1889=)	NC_000003.11:g.38592196G>A	(Likely) benign	4 labs	6ef068a998
2:179611814 TTN G>T	2	179611814	179611814	G	T	TTN	c.15313C>A	NM_133379.5	NP_596870.2:p.(Arg5105=)	NC_000002.11:g.179611814G>T	(Likely) benign	2 labs	6ecfe91a5e
7:103191732 RELN G>A	7	103191732	103191732	G	A	RELN	c.6084C>T	NM_005045.4	NP_005036.2:p.(Gly2028=)	NC_000007.13:g.103191732G>A	(Likely) benign	3 labs	6ed7584ac6
20:52775528 CYP24A1 C>T	20	52775528	52775528	C	T	CYP24A1	c.1125G>A	NM_000782.5	NP_000773.2:p.(Pro375=)	NC_000020.10:g.52775528C>T	(Likely) benign	2 labs	6eda8726f1
17:75494705 SEPTIN9 A>G	17	75494705	75494705	A	G	SEPTIN9	c.1672A>G	NM_006640.5	NP_006631.2:p.(Met558Val)	NC_000017.10:g.75494705A>G	(Likely) benign	2 labs	6ee03b13c6
10:112340744 SMC3 G>A	10	112340744	112340744	G	A	SMC3	c.512G>A	NM_005445.4	NP_005436.1:p.(Arg171Gln)	NC_000010.10:g.112340744G>A	(Likely) pathogenic	2 labs	6ee2d75968
5:179260213 SQSTM1 G>A	5	179260213	179260213	G	A	SQSTM1	c.684G>A	NM_001142298.2	NP_001135770.1:p.(Arg228=)	NC_000005.9:g.179260213G>A	(Likely) benign	4 labs	6ee5cba5f7
15:90209124 PLIN1 T>C	15	90209124	90209124	T	C	PLIN1	c.1259A>G	NM_002666.5	NP_002657.3:p.(Asp420Gly)	NC_000015.9:g.90209124T>C	VUS	2 labs	6ee820291a
15:73616159 HCN4 C>T	15	73616159	73616159	C	T	HCN4	c.2275G>A	NM_005477.3	NP_005468.1:p.(Val759Ile)	NC_000015.9:g.73616159C>T	(Likely) benign	6 labs	6ef80a2243
10:102770309 PDZD7 GCGGCTACGGCTGCGGCTA>G	10	102770309	102770332	GCGGCTACGGCTGCGGCTA	G	PDZD7	c.2319_2336del	NM_001195263.2	NP_001182192.1:p.(Arg779_Ser784del)	NC_000010.10:g.102770315_102770332del	(Likely) benign	2 labs	6efa799798
6:7580222 DSP C>T	6	7580222	7580222	C	T	DSP	c.3799C>T	NM_004415.4	NP_004406.2:p.(Arg1267Ter)	NC_000006.11:g.7580222C>T	(Likely) pathogenic	2 labs	6f0051637e
12:9016456 A2ML1 C>T	12	9016456	9016456	C	T	A2ML1	c.3569C>T	NM_144670.6	NP_653271.3:p.(Ala1190Val)	NC_000012.11:g.9016456C>T	(Likely) benign	3 labs	6f09a92f8c
2:179418418 TTN C>T	2	179418418	179418418	C	T	TTN	c.89314G>A	NM_001267550.2	NP_001254479.2:p.(Glu29772Lys)	NC_000002.11:g.179418418C>T	(Likely) benign	5 labs	6f0e66732b
13:49027168 RB1 C>T	13	49027168	49027168	C	T	RB1	c.1735C>T	NM_000321.3	NP_000312.2:p.(Arg579Ter)	NC_000013.10:g.49027168C>T	(Likely) pathogenic	2 labs	6f0f1a26bb
3:46899903 MYL3 T>C	3	46899903	46899903	T	C	MYL3	c.530A>G	NM_000258.3	NP_000249.1:p.(Glu177Gly)	NC_000003.11:g.46899903T>C	VUS	4 labs	6f1ec60135
15:80478550 FAH G>A	15	80478550	80478550	G	A	FAH	c.1259G>A	NM_000137.4	NP_000128.1:p.(Ter420=)	NC_000015.9:g.80478550G>A	(Likely) benign	4 labs	6f37c065d6
17:54921494 DGKE A>C	17	54921494	54921494	A	C	DGKE	c.579A>C	NM_003647.3	NP_003638.1:p.(Thr193=)	NC_000017.10:g.54921494A>C	(Likely) benign	2 labs	6f4d788947
1:156106743 LMNA G>A	1	156106743	156106743	G	A	LMNA	c.1412G>A	NM_170707.4	NP_733821.1:p.(Arg471His)	NC_000001.10:g.156106743G>A	(Likely) pathogenic	2 labs	7bbae3f647
16:23646673 PALB2 C>T	16	23646673	23646673	C	T	PALB2	c.1194G>A	NM_024675.4	NP_078951.2:p.(Val398=)	NC_000016.9:g.23646673C>T	(Likely) benign	7 labs	6f611089f4
11:67257823 AIP C>A	11	67257823	67257823	C	A	AIP	c.682C>A	NM_003977.4	NP_003968.3:p.(Gln228Lys)	NC_000011.9:g.67257823C>A	(Likely) benign	2 labs	6f6b0b1e9b
2:220420956 OBSL1 A>G	2	220420956	220420956	A	G	OBSL1	c.4395T>C	NM_015311.3	NP_056126.1:p.(Asp1465=)	NC_000002.11:g.220420956A>G	(Likely) benign	2 labs	6f78347602
2:179499289 TTN G>A	2	179499289	179499289	G	A	TTN	c.42219C>T	NM_001267550.2	NP_001254479.2:p.(Phe14073=)	NC_000002.11:g.179499289G>A	(Likely) benign	3 labs	6f8a61e2fd
1:22157689 HSPG2 G>A	1	22157689	22157689	G	A	HSPG2	c.11562+19C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22157689G>A	(Likely) benign	2 labs	6f90c4d89e
17:41244557 BRCA1 A>ATT	17	41244557	41244562	A	ATT	BRCA1	c.2989_2990dup	NM_007294.4	NP_009225.1:p.(Asn997LysfsTer4)	NC_000017.10:g.41244561_41244562dup	(Likely) pathogenic	5 labs	6f9d257d02
3:38627545 SCN5A G>A	3	38627545	38627545	G	A	SCN5A	c.2437-13C>T	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627545G>A	(Likely) benign	5 labs	6fbd7689e5
17:7999957 ALOXE3 G>A	17	7999957	7999957	G	A	ALOXE3	c.2520C>T	NM_001165960.1	NP_001159432.1:p.(Ser840=)	NC_000017.10:g.7999957G>A	(Likely) benign	2 labs	6fc7ef2c1f
6:7542148 DSP C>CA	6	7542148	7542149	C	CA	DSP	c.1dup	NM_004415.4	NP_004406.2:p.(Met1?)	NC_000006.11:g.7542149dup	(Likely) benign	3 labs	6fd9af94c6
11:47371448 MYBPC3 G>A	11	47371448	47371448	G	A	MYBPC3	c.531C>T	NM_000256.3	NP_000247.2:p.(Arg177=)	NC_000011.9:g.47371448G>A	(Likely) benign	3 labs	6fdbb7d58e
2:179462685 TTN A>G	2	179462685	179462685	A	G	TTN	c.57212T>C	NM_001267550.2	NP_001254479.2:p.(Ile19071Thr)	NC_000002.11:g.179462685A>G	(Likely) benign	4 labs	6ff5ed6660
2:109381994 RANBP2 G>A	2	109381994	109381994	G	A	RANBP2	c.4999G>A	NM_006267.5	NP_006258.3:p.(Gly1667Arg)	NC_000002.11:g.109381994G>A	VUS	3 labs	6ff7c35bf0
11:68703959 IGHMBP2 A>G	11	68703959	68703959	A	G	IGHMBP2	c.2011A>G	NM_002180.3	NP_002171.2:p.(Thr671Ala)	NC_000011.9:g.68703959A>G	(Likely) benign	3 labs	6ffcf65077
11:125830970 CDON A>T	11	125830970	125830970	A	T	CDON	c.3731T>A	NM_001243597.2	NP_001230526.1:p.(Ile1244Asn)	NC_000011.9:g.125830970A>T	(Likely) benign	2 labs	7004cd067c
2:179404673 TTN C>G	2	179404673	179404673	C	G	TTN	c.98119G>C	NM_001267550.2	NP_001254479.2:p.(Asp32707His)	NC_000002.11:g.179404673C>G	VUS	2 labs	700c5c0667
19:12996740 KLF1 A>G	19	12996740	12996740	A	G	KLF1	c.304T>C	NM_006563.5	NP_006554.1:p.(Ser102Pro)	NC_000019.9:g.12996740A>G	(Likely) benign	2 labs	701b5b4029
7:2577781 BRAT1 T>C	7	2577781	2577781	T	C	BRAT1	c.2388A>G	NM_152743.4	NP_689956.2:p.(Glu796=)	NC_000007.13:g.2577781T>C	(Likely) benign	2 labs	702bb1c17b
3:37061923 MLH1 G>A	3	37061923	37061923	G	A	MLH1	c.1007G>A	NM_000249.4	NP_000240.1:p.(Gly336Asp)	NC_000003.11:g.37061923G>A	VUS	2 labs	703097e9f9
11:71150032 DHCR7 G>A	11	71150032	71150032	G	A	DHCR7	c.724C>T	NM_001360.3	NP_001351.2:p.(Arg242Cys)	NC_000011.9:g.71150032G>A	(Likely) pathogenic	2 labs	703b7d3f0a
10:76789953 KAT6B A>G	10	76789953	76789953	A	G	KAT6B	c.5371A>G	NM_012330.4	NP_036462.2:p.(Asn1791Asp)	NC_000010.10:g.76789953A>G	VUS	2 labs	7042b1dd97
X:102192503 RAB40AL G>A	X	102192503	102192503	G	A	RAB40AL	c.257G>A	NM_001031834.1	NP_001027004.1:p.(Gly86Asp)	NC_000023.10:g.102192503G>A	(Likely) benign	2 labs	704a831ec5
1:201338981 TNNT2 T>C	1	201338981	201338981	T	C	TNNT2	c.68-8A>G	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201338981T>C	(Likely) benign	4 labs	70538cc495
22:29107938 CHEK2 T>A	22	29107938	29107938	T	A	CHEK2	c.751A>T	NM_007194.4	NP_009125.1:p.(Ile251Phe)	NC_000022.10:g.29107938T>A	VUS	3 labs	70565f3487
11:68673588 IGHMBP2 T>A	11	68673588	68673588	T	A	IGHMBP2	c.138T>A	NM_002180.3	NP_002171.2:p.(Cys46Ter)	NC_000011.9:g.68673588T>A	(Likely) pathogenic	2 labs	705cfdaf20
11:47354385 MYBPC3 G>A	11	47354385	47354385	G	A	MYBPC3	c.3470C>T	NM_000256.3	NP_000247.2:p.(Pro1157Leu)	NC_000011.9:g.47354385G>A	VUS	2 labs	705e04d0a9
17:41249283 BRCA1 C>T	17	41249283	41249283	C	T	BRCA1	c.571G>A	NM_007294.4	NP_009225.1:p.(Val191Ile)	NC_000017.10:g.41249283C>T	(Likely) benign	5 labs	706d10004c
1:66075952 LEPR G>C	1	66075952	66075952	G	C	LEPR	c.1968G>C	NM_001003679.3	NP_001003679.1:p.(Lys656Asn)	NC_000001.10:g.66075952G>C	(Likely) benign	3 labs	707350f126
10:121411283 BAG3 G>T	10	121411283	121411283	G	T	BAG3	c.96G>T	NM_004281.4	NP_004272.2:p.(Pro32=)	NC_000010.10:g.121411283G>T	(Likely) benign	5 labs	708c4ca7e7
14:88407917 GALC G>A	14	88407917	88407917	G	A	GALC	c.1671-15C>T	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88407917G>A	(Likely) benign	3 labs	7095bf4908
12:125296427 SCARB1 C>T	12	125296427	125296427	C	T	SCARB1	c.715G>A	NM_005505.5	NP_005496.4:p.(Gly239Arg)	NC_000012.11:g.125296427C>T	VUS	2 labs	7096cb4bb3
9:79954545 VPS13A T>C	9	79954545	79954545	T	C	VPS13A	c.6492T>C	NM_033305.3	NP_150648.2:p.(Asp2164=)	NC_000009.11:g.79954545T>C	(Likely) benign	2 labs	7096e6d31f
6:7585726 DSP G>A	6	7585726	7585726	G	A	DSP	c.8231G>A	NM_004415.4	NP_004406.2:p.(Arg2744Lys)	NC_000006.11:g.7585726G>A	VUS	2 labs	709d59b915
18:25572674 CDH2 C>A	18	25572674	25572674	C	A	CDH2	c.1289G>T	NM_001792.5	NP_001783.2:p.(Arg430Leu)	NC_000018.9:g.25572674C>A	VUS	2 labs	70a4c48d91
1:27695863 FCN3 T>C	1	27695863	27695863	T	C	FCN3	c.764A>G	NM_003665.4	NP_003656.2:p.(Tyr255Cys)	NC_000001.10:g.27695863T>C	VUS	2 labs	70a4f8f0e0
18:55221648 FECH T>C	18	55221648	55221648	T	C	FECH	c.939A>G	NM_001012515.4	NP_001012533.1:p.(Pro313=)	NC_000018.9:g.55221648T>C	(Likely) benign	2 labs	70a650979b
19:14037513 CC2D1A G>A	19	14037513	14037513	G	A	CC2D1A	c.2048G>A	NM_017721.5	NP_060191.3:p.(Arg683Gln)	NC_000019.9:g.14037513G>A	VUS	2 labs	70aa490e42
2:48030639 MSH6 AC>A	2	48030639	48030647	AC	A	MSH6	c.3261del	NM_000179.3	NP_000170.1:p.(Phe1088SerfsTer2)	NC_000002.11:g.48030647del	(Likely) pathogenic	2 labs	70afbdbbbe
3:37035053 MLH1 AGGGGTTATTCGGCGGCT>A	3	37035053	37035072	AGGGGTTATTCGGCGGCT	A	MLH1	c.18_34del	NM_000249.4	NP_000240.1:p.(Val7ArgfsTer18)	NC_000003.11:g.37035056_37035072del	(Likely) pathogenic	2 labs	70b10a376d
2:166894396 SCN1A G>A	2	166894396	166894396	G	A	SCN1A	c.2836C>T	NM_001202435.3	NP_001189364.1:p.(Arg946Cys)	NC_000002.11:g.166894396G>A	(Likely) pathogenic	2 labs	70b10b0299
9:79938036 VPS13A C>T	9	79938036	79938036	C	T	VPS13A	c.5884C>T	NM_033305.3	NP_150648.2:p.(Arg1962Cys)	NC_000009.11:g.79938036C>T	(Likely) benign	4 labs	70b1f5d402
1:19202926 ALDH4A1 T>C	1	19202926	19202926	T	C	ALDH4A1	c.1221A>G	NM_003748.4	NP_003739.2:p.(Ala407=)	NC_000001.10:g.19202926T>C	(Likely) benign	2 labs	70bd92b2e2
11:17428964 ABCC8 G>A	11	17428964	17428964	G	A	ABCC8	c.2857C>T	NM_000352.6	NP_000343.2:p.(Gln953Ter)	NC_000011.9:g.17428964G>A	(Likely) pathogenic	3 labs	70c1846bdf
13:20797025 GJB6 A>T	13	20797025	20797025	A	T	GJB6	c.595T>A	NM_001110219.3	NP_001103689.1:p.(Ser199Thr)	NC_000013.10:g.20797025A>T	(Likely) benign	2 labs	70c8d7efbf
13:31891746 B3GLCT G>A	13	31891746	31891746	G	A	B3GLCT	c.1108G>A	NM_194318.4	NP_919299.3:p.(Glu370Lys)	NC_000013.10:g.31891746G>A	(Likely) benign	2 labs	70d311e837
2:21255280 APOB G>A	2	21255280	21255280	G	A	APOB	c.1298C>T	NM_000384.3	NP_000375.3:p.(Ala433Val)	NC_000002.11:g.21255280G>A	VUS	2 labs	70e404322a
4:175429213 HPGD C>T	4	175429213	175429213	C	T	HPGD	c.421+634G>A	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175429213C>T	(Likely) benign	2 labs	70f966d64b
3:133692624 SLCO2A1 G>A	3	133692624	133692624	G	A	SLCO2A1	c.280C>T	NM_005630.3	NP_005621.2:p.(Arg94Trp)	NC_000003.11:g.133692624G>A	VUS	2 labs	70fdab0e6e
2:179517086 TTN A>T	2	179517086	179517086	A	T	TTN	c.39128-12T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179517086A>T	(Likely) benign	3 labs	70fe15b2fb
5:37027465 NIPBL C>A	5	37027465	37027465	C	A	NIPBL	c.5813C>A	NM_133433.4	NP_597677.2:p.(Ala1938Glu)	NC_000005.9:g.37027465C>A	VUS	2 labs	711f68b01b
2:179437093 TTN T>C	2	179437093	179437093	T	C	TTN	c.73766A>G	NM_001267550.2	NP_001254479.2:p.(Tyr24589Cys)	NC_000002.11:g.179437093T>C	VUS	2 labs	7120b07dcb
11:70332118 SHANK2 C>T	11	70332118	70332118	C	T	SHANK2	c.4280G>A	NM_012309.5	NP_036441.2:p.(Arg1427Gln)	NC_000011.9:g.70332118C>T	VUS	2 labs	712b465f03
18:29172937 TTR G>A	18	29172937	29172937	G	A	TTR	c.148G>A	NM_000371.4	NP_000362.1:p.(Val50Met)	NC_000018.9:g.29172937G>A	(Likely) pathogenic	6 labs	713317d329
7:148543693 EZH2 TA>T	7	148543693	148543704	TA	T	EZH2	c.118-4del	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148543704del	(Likely) benign	2 labs	7142906de4
9:79986057 VPS13A A>G	9	79986057	79986057	A	G	VPS13A	c.9069A>G	NM_033305.3	NP_150648.2:p.(Gly3023=)	NC_000009.11:g.79986057A>G	(Likely) benign	2 labs	7143732a44
20:42744935 JPH2 C>T	20	42744935	42744935	C	T	JPH2	c.1380G>A	NM_020433.5	NP_065166.2:p.(Ala460=)	NC_000020.10:g.42744935C>T	(Likely) benign	5 labs	7145dc7094
10:112581122 RBM20 GGAA>G	10	112581122	112581133	GGAA	G	RBM20	c.2754_2756del	NM_001134363.3	NP_001127835.2:p.(Glu918del)	NC_000010.10:g.112581131_112581133del	VUS	2 labs	7149d417ea
22:37462936 TMPRSS6 A>G	22	37462936	37462936	A	G	TMPRSS6	c.2180T>C	NM_153609.4	NP_705837.2:p.(Val727Ala)	NC_000022.10:g.37462936A>G	(Likely) benign	2 labs	715d3d3a11
5:16508674 RETREG1 A>G	5	16508674	16508674	A	G	RETREG1	c.459-25093T>C	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16508674A>G	(Likely) benign	2 labs	715e6f42cd
1:12321211 VPS13D G>A	1	12321211	12321211	G	A	VPS13D	c.1414+5G>A	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12321211G>A	VUS	2 labs	7165eea07e
X:85219021 CHM T>C	X	85219021	85219021	T	C	CHM	c.351A>G	NM_000390.4	NP_000381.1:p.(Ala117=)	NC_000023.10:g.85219021T>C	(Likely) benign	2 labs	717404b70a
2:44050063 ABCG5 G>A	2	44050063	44050063	G	A	ABCG5	c.1336C>T	NM_022436.3	NP_071881.1:p.(Arg446Ter)	NC_000002.11:g.44050063G>A	(Likely) pathogenic	3 labs	718c52de22
21:44485564 CBS G>A	21	44485564	44485564	G	A	CBS	c.599C>T	NM_000071.3	NP_000062.1:p.(Pro200Leu)	NC_000021.8:g.44485564G>A	VUS	2 labs	719f3bc07f
2:219679182 CYP27A1 G>T	2	219679182	219679182	G	T	CYP27A1	c.1263+1G>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219679182G>T	(Likely) pathogenic	2 labs	71a3c6006c
10:71060610 HK1 A>G	10	71060610	71060610	A	G	HK1	c.20A>G	NM_033500.2	NP_277035.2:p.(His7Arg)	NC_000010.10:g.71060610A>G	(Likely) benign	2 labs	71aaf74eec
13:32920978 BRCA2 C>T	13	32920978	32920978	C	T	BRCA2	c.6952C>T	NM_000059.4	NP_000050.3:p.(Arg2318Ter)	NC_000013.10:g.32920978C>T	(Likely) pathogenic	6 labs	71b3119a93
5:180045820 FLT4 C>T	5	180045820	180045820	C	T	FLT4	c.2951G>A	NM_182925.5	NP_891555.2:p.(Arg984Gln)	NC_000005.9:g.180045820C>T	(Likely) benign	2 labs	71b5980660
16:46723619 VPS35 T>C	16	46723619	46723619	T	C	VPS35				NC_000016.9:g.46723619T>C	(Likely) pathogenic	2 labs	71bfb2e1c1
7:42006177 GLI3 C>T	7	42006177	42006177	C	T	GLI3	c.2494G>A	NM_000168.6	NP_000159.3:p.(Asp832Asn)	NC_000007.13:g.42006177C>T	VUS	2 labs	71c01d261b
2:149227150 MBD5 C>T	2	149227150	149227150	C	T	MBD5	c.1638C>T	NM_018328.5	NP_060798.2:p.(Ala546=)	NC_000002.11:g.149227150C>T	(Likely) benign	2 labs	71d2911781
2:47693788 MSH2 A>T	2	47693788	47693788	A	T	MSH2	c.1511-9A>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693788A>T	(Likely) benign	4 labs	71e1093760
5:251555 SDHA G>A	5	251555	251555	G	A	SDHA	c.1766G>A	NM_004168.4	NP_004159.2:p.(Arg589Gln)	NC_000005.9:g.251555G>A	(Likely) pathogenic	2 labs	71e22ad507
17:56780562 RAD51C C>T	17	56780562	56780562	C	T	RAD51C	c.577C>T	NM_058216.3	NP_478123.1:p.(Arg193Ter)	NC_000017.10:g.56780562C>T	(Likely) pathogenic	3 labs	71e5ff41d3
3:81810551 GBE1 G>T	3	81810551	81810551	G	T	GBE1	c.118C>A	NM_000158.4	NP_000149.4:p.(Pro40Thr)	NC_000003.11:g.81810551G>T	(Likely) benign	2 labs	71fca06cff
7:150655537 KCNH2 G>A	7	150655537	150655537	G	A	KCNH2	c.526C>T	NM_000238.4	NP_000229.1:p.(Arg176Trp)	NC_000007.13:g.150655537G>A	VUS	3 labs	7211605307
1:227174145 COQ8A T>C	1	227174145	227174145	T	C	COQ8A	c.1660-9T>C	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227174145T>C	(Likely) benign	4 labs	72150587e7
19:10472933 TYK2 A>G	19	10472933	10472933	A	G	TYK2	c.1669+7T>C	NM_003331.5	NP_003322.3:p.?	NC_000019.9:g.10472933A>G	(Likely) benign	2 labs	721c7859f5
2:166171996 SCN2A G>T	2	166171996	166171996	G	T	SCN2A	c.1399G>T	NM_021007.3	NP_066287.2:p.(Ala467Ser)	NC_000002.11:g.166171996G>T	VUS	2 labs	7223f0f13e
2:179456796 TTN G>A	2	179456796	179456796	G	A	TTN	c.59835C>T	NM_001267550.2	NP_001254479.2:p.(Asn19945=)	NC_000002.11:g.179456796G>A	(Likely) benign	2 labs	722e651aae
2:179446812 TTN C>T	2	179446812	179446812	C	T	TTN	c.66284G>A	NM_001267550.2	NP_001254479.2:p.(Arg22095Gln)	NC_000002.11:g.179446812C>T	VUS	2 labs	7242256803
6:31084075 CDSN G>T	6	31084075	31084075	G	T	CDSN	c.1317C>A	NM_001264.5	NP_001255.4:p.(Ser439=)	NC_000006.11:g.31084075G>T	(Likely) benign	2 labs	7245d4584b
11:118962230 HMBS G>T	11	118962230	118962230	G	T	HMBS	c.606G>T	NM_000190.4	NP_000181.2:p.(Val202=)	NC_000011.9:g.118962230G>T	(Likely) benign	2 labs	724acac2f5
15:34040330 RYR3 C>T	15	34040330	34040330	C	T	RYR3	c.8005C>T	NM_001036.6	NP_001027.3:p.(Arg2669Cys)	NC_000015.9:g.34040330C>T	VUS	2 labs	724eef4aa1
13:32914044 BRCA2 T>G	13	32914044	32914044	T	G	BRCA2	c.5552T>G	NM_000059.4	NP_000050.3:p.(Ile1851Ser)	NC_000013.10:g.32914044T>G	(Likely) benign	4 labs	725118e75e
5:126746277 MEGF10 C>T	5	126746277	126746277	C	T	MEGF10	c.1114C>T	NM_032446.3	NP_115822.1:p.(Leu372=)	NC_000005.9:g.126746277C>T	(Likely) benign	2 labs	72637551aa
16:88884466 GALNS C>T	16	88884466	88884466	C	T	GALNS	c.1431G>A	NM_000512.5	NP_000503.1:p.(Glu477=)	NC_000016.9:g.88884466C>T	(Likely) benign	3 labs	7265a420cb
2:220283263 DES G>A	2	220283263	220283263	G	A	DES	c.79G>A	NM_001927.4	NP_001918.3:p.(Gly27Ser)	NC_000002.11:g.220283263G>A	VUS	6 labs	72843dc853
3:178921548 PIK3CA G>A	3	178921548	178921548	G	A	PIK3CA	c.1030G>A	NM_006218.4	NP_006209.2:p.(Val344Met)	NC_000003.11:g.178921548G>A	(Likely) pathogenic	2 labs	728928c013
1:74797237 TNNI3K G>T	1	74797237	74797237	G	T	TNNI3K	c.543+5G>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74797237G>T	VUS	2 labs	729be262cf
1:78394984 NEXN A>G	1	78394984	78394984	A	G	NEXN	c.865-17A>G	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78394984A>G	(Likely) benign	5 labs	729fed6933
11:17429922 ABCC8 T>C	11	17429922	17429922	T	C	ABCC8	c.2820+17A>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17429922T>C	(Likely) benign	3 labs	72a737a7d7
11:19209751 CSRP3 G>A	11	19209751	19209751	G	A	CSRP3	c.213C>T	NM_003476.5	NP_003467.1:p.(Ile71=)	NC_000011.9:g.19209751G>A	(Likely) benign	6 labs	72bb15c4cd
19:4548150 SEMA6B C>T	19	4548150	4548150	C	T	SEMA6B	c.1490G>A	NM_032108.4	NP_115484.2:p.(Arg497Gln)	NC_000019.9:g.4548150C>T	(Likely) benign	3 labs	72c44c6eac
3:48508677 TREX1 G>C	3	48508677	48508677	G	C	TREX1	c.623G>C	NM_033629.6	NP_338599.1:p.(Cys208Ser)	NC_000003.11:g.48508677G>C	VUS	3 labs	72cd3a8102
10:30629136 MTPAP G>A	10	30629136	30629136	G	A	MTPAP	c.555+19C>T	NM_018109.4	NP_060579.3:p.?	NC_000010.10:g.30629136G>A	(Likely) benign	3 labs	72cd5ba767
13:20797411 GJB6 G>A	13	20797411	20797411	G	A	GJB6	c.209C>T	NM_006783.5	NP_006774.2:p.(Pro70Leu)	NC_000013.10:g.20797411G>A	VUS	2 labs	72cda7b708
X:135288656 FHL1 A>C	X	135288656	135288656	A	C	FHL1	c.65A>C	NM_001159704.1	NP_001153176.1:p.(Lys22Thr)	NC_000023.10:g.135288656A>C	VUS	2 labs	72cec7021c
12:990912 WNK1 A>C	12	990912	990912	A	C	WNK1	c.3946A>C	NM_001184985.2	NP_001171914.1:p.(Thr1316Pro)	NC_000012.11:g.990912A>C	(Likely) benign	3 labs	72d2f3b9fb
10:68526170 CTNNA3 C>T	10	68526170	68526170	C	T	CTNNA3	c.1133G>A	NM_013266.4	NP_037398.2:p.(Arg378His)	NC_000010.10:g.68526170C>T	(Likely) benign	4 labs	72d5f3c9b8
3:123167249 ADCY5 G>A	3	123167249	123167249	G	A	ADCY5	c.144C>T	NM_183357.3	NP_899200.1:p.(Gly48=)	NC_000003.11:g.123167249G>A	(Likely) benign	2 labs	72db2d1d2e
15:63336295 TPM1 G>C	15	63336295	63336295	G	C	TPM1	c.184G>C	NM_001018004.2	NP_001018004.1:p.(Glu62Gln)	NC_000015.9:g.63336295G>C	(Likely) pathogenic	4 labs	72dc72f799
11:134014673 JAM3 C>CCT	11	134014673	134014674	C	CCT	JAM3	c.410-14_410-13insCT	NM_032801.5	NP_116190.3:p.?	NC_000011.9:g.134014673_134014674insCT	(Likely) benign	2 labs	72e7673b0c
10:69966659 MYPN C>T	10	69966659	69966659	C	T	MYPN	c.2910C>T	NM_001256268.2	NP_001243197.1:p.(Tyr970=)	NC_000010.10:g.69966659C>T	(Likely) benign	4 labs	7307583f12
2:179397297 TTN C>T	2	179397297	179397297	C	T	TTN	c.104045G>A	NM_001267550.2	NP_001254479.2:p.(Arg34682His)	NC_000002.11:g.179397297C>T	VUS	2 labs	732ae63672
12:112888156 PTPN11 A>G	12	112888156	112888156	A	G	PTPN11	c.172A>G	NM_002834.5	NP_002825.3:p.(Asn58Asp)	NC_000012.11:g.112888156A>G	(Likely) pathogenic	2 labs	733e57bbbf
17:41244291 BRCA1 A>C	17	41244291	41244291	A	C	BRCA1	c.3257T>G	NM_007294.4	NP_009225.1:p.(Leu1086Ter)	NC_000017.10:g.41244291A>C	(Likely) pathogenic	2 labs	734615df4d
3:123018963 ADCY5 A>G	3	123018963	123018963	A	G	ADCY5	c.2900+4T>C	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123018963A>G	(Likely) benign	2 labs	734ce4d845
11:2591911 KCNQ1 C>T	11	2591911	2591911	C	T	KCNQ1	c.531C>T	NM_000218.3	NP_000209.2:p.(Ser177=)	NC_000011.9:g.2591911C>T	(Likely) benign	3 labs	7358b076b6
X:9711595 GPR143 G>C	X	9711595	9711595	G	C	GPR143	c.767+10C>G	NM_000273.3	NP_000264.2:p.?	NC_000023.10:g.9711595G>C	(Likely) benign	2 labs	737042edae
5:233751 SDHA G>A	5	233751	233751	G	A	SDHA	c.1055G>A	NM_004168.4	NP_004159.2:p.(Arg352Gln)	NC_000005.9:g.233751G>A	VUS	3 labs	7379b8acc5
14:23282110 SLC7A7 A>G	14	23282110	23282110	A	G	SLC7A7	c.498T>C	NM_001126106.4	NP_001119578.1:p.(Ile166=)	NC_000014.8:g.23282110A>G	(Likely) benign	3 labs	738e846042
17:41209095 BRCA1 G>A	17	41209095	41209095	G	A	BRCA1	c.5251C>T	NM_007294.4	NP_009225.1:p.(Arg1751Ter)	NC_000017.10:g.41209095G>A	(Likely) pathogenic	6 labs	738e88ea2d
11:22296151 ANO5 C>T	11	22296151	22296151	C	T	ANO5	c.2272C>T	NM_213599.3	NP_998764.1:p.(Arg758Cys)	NC_000011.9:g.22296151C>T	(Likely) pathogenic	3 labs	7395b0d8fb
1:16355714 CLCNKA G>T	1	16355714	16355714	G	T	CLCNKA	c.1147G>T	NM_004070.4	NP_004061.3:p.(Asp383Tyr)	NC_000001.10:g.16355714G>T	VUS	2 labs	739d3cea69
17:10544696 MYH3 GA>G	17	10544696	10544706	GA	G	MYH3	c.1960-8del	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10544706del	(Likely) benign	4 labs	73a3980051
8:41529856 ANK1 A>G	8	41529856	41529856	A	G	ANK1	c.5219+16T>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41529856A>G	(Likely) benign	2 labs	73a61439e3
1:39851144 MACF1 T>A	1	39851144	39851144	T	A	MACF1	c.7701T>A	NM_012090.5	NP_036222.3:p.(His2567Gln)	NC_000001.10:g.39851144T>A	VUS	2 labs	73ac310313
9:132576340 TOR1A TCTC>T	9	132576340	132576346	TCTC	T	TOR1A	c.907_909del	NM_000113.3	NP_000104.1:p.(Glu303del)	NC_000009.11:g.132576344_132576346del	(Likely) pathogenic	2 labs	73b2c4d87b
11:108164196 ATM C>T	11	108164196	108164196	C	T	ATM	c.4768C>T	NM_001351834.2	NP_001338763.1:p.(Leu1590Phe)	NC_000011.9:g.108164196C>T	VUS	2 labs	73b5e2346e
9:139410177 NOTCH1 T>C	9	139410177	139410177	T	C	NOTCH1	c.1670-9A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410177T>C	(Likely) benign	3 labs	73be782c7b
6:123892076 TRDN T>A	6	123892076	123892076	T	A	TRDN	c.224A>T	NM_006073.4	NP_006064.2:p.(Asn75Ile)	NC_000006.11:g.123892076T>A	VUS	3 labs	73c806facb
1:201334382 TNNT2 G>A	1	201334382	201334382	G	A	TNNT2	c.348C>T	NM_000364.4	NP_000355.2:p.(Ile116=)	NC_000001.10:g.201334382G>A	(Likely) benign	5 labs	73cf90d3d6
7:142459788 PRSS1 C>T	7	142459788	142459788	C	T	PRSS1	c.364C>T	NM_002769.5	NP_002760.1:p.(Arg122Cys)	NC_000007.13:g.142459788C>T	(Likely) pathogenic	2 labs	73df21f3ca
3:38597180 SCN5A G>A	3	38597180	38597180	G	A	SCN5A	c.4509C>T	NM_001099404.2	NP_001092874.1:p.(Ser1503=)	NC_000003.11:g.38597180G>A	(Likely) benign	5 labs	73eb033bf3
11:47371663 MYBPC3 C>G	11	47371663	47371663	C	G	MYBPC3	c.407G>C	NM_000256.3	NP_000247.2:p.(Gly136Ala)	NC_000011.9:g.47371663C>G	VUS	2 labs	73f1e099b5
1:3102852 PRDM16 G>A	1	3102852	3102852	G	A	PRDM16	c.201G>A	NM_022114.4	NP_071397.3:p.(Pro67=)	NC_000001.10:g.3102852G>A	(Likely) benign	5 labs	73f9b3144c
5:156895736 NIPAL4 C>A	5	156895736	156895736	C	A	NIPAL4	c.341C>A	NM_001099287.2	NP_001092757.2:p.(Ala114Asp)	NC_000005.9:g.156895736C>A	(Likely) pathogenic	4 labs	7408b3ba4d
14:105179194 INF2 T>C	14	105179194	105179194	T	C	INF2	c.2640T>C	NM_022489.4	NP_071934.3:p.(Asp880=)	NC_000014.8:g.105179194T>C	(Likely) benign	2 labs	7414f8da86
2:47657029 MSH2 CAG>C	2	47657029	47657031	CAG	C	MSH2	c.1226_1227del	NM_000251.3	NP_000242.1:p.(Gln409ArgfsTer7)	NC_000002.11:g.47657030_47657031del	(Likely) pathogenic	4 labs	741b139318
6:36270130 PNPLA1 C>A	6	36270130	36270130	C	A	PNPLA1	c.1268C>A	NM_001145717.1	NP_001139189.2:p.(Pro423His)	NC_000006.11:g.36270130C>A	(Likely) benign	2 labs	7428bb2b48
1:979043 AGRN G>A	1	979043	979043	G	A	AGRN	c.1729G>A	NM_198576.4	NP_940978.2:p.(Glu577Lys)	NC_000001.10:g.979043G>A	VUS	2 labs	74c22a0b6e
7:117304907 CFTR G>C	7	117304907	117304907	G	C	CFTR	c.4129G>C	NM_000492.4	NP_000483.3:p.(Asp1377His)	NC_000007.13:g.117304907G>C	VUS	3 labs	742c5e4a82
20:44047932 PIGT C>T	20	44047932	44047932	C	T	PIGT	c.494-3C>T	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44047932C>T	(Likely) benign	2 labs	7435a161fb
2:179428362 TTN G>A	2	179428362	179428362	G	A	TTN	c.82497C>T	NM_001267550.2	NP_001254479.2:p.(Thr27499=)	NC_000002.11:g.179428362G>A	(Likely) benign	4 labs	74428cf414
7:154645534 DPP6 A>C	7	154645534	154645534	A	C	DPP6	c.1711A>C	NM_130797.4	NP_570629.2:p.(Lys571Gln)	NC_000007.13:g.154645534A>C	(Likely) benign	3 labs	744ae29f4d
13:32929405 BRCA2 AGT>A	13	32929405	32929410	AGT	A	BRCA2	c.7419_7420del	NM_000059.4	NP_000050.3:p.(Cys2473Ter)	NC_000013.10:g.32929409_32929410del	(Likely) pathogenic	4 labs	745d727c7a
6:157528657 ARID1B C>T	6	157528657	157528657	C	T	ARID1B	c.6631C>T	NM_001371656.1	NP_001358585.1:p.(Arg2211Ter)	NC_000006.11:g.157528657C>T	(Likely) pathogenic	2 labs	746edb029c
3:14174427 TMEM43 A>T	3	14174427	14174427	A	T	TMEM43	c.504A>T	NM_024334.3	NP_077310.1:p.(Lys168Asn)	NC_000003.11:g.14174427A>T	(Likely) benign	5 labs	7472f9506a
17:8015495 ALOXE3 G>A	17	8015495	8015495	G	A	ALOXE3	c.1096C>T	NM_001165960.1	NP_001159432.1:p.(Arg366Ter)	NC_000017.10:g.8015495G>A	(Likely) pathogenic	3 labs	747fff3467
2:179466212 TTN G>A	2	179466212	179466212	G	A	TTN	c.55512C>T	NM_001267550.2	NP_001254479.2:p.(Asp18504=)	NC_000002.11:g.179466212G>A	(Likely) benign	4 labs	7484cd3a1e
10:88478496 LDB3 G>A	10	88478496	88478496	G	A	LDB3	c.1885G>A	NM_001171610.2	NP_001165081.1:p.(Ala629Thr)	NC_000010.10:g.88478496G>A	VUS	6 labs	749835aa42
2:109365521 RANBP2 C>T	2	109365521	109365521	C	T	RANBP2	c.1209C>T	NM_006267.5	NP_006258.3:p.(Ser403=)	NC_000002.11:g.109365521C>T	(Likely) benign	2 labs	749c3a61ba
2:179392260 TTN C>T	2	179392260	179392260	C	T	TTN	c.107593G>A	NM_001267550.2	NP_001254479.2:p.(Glu35865Lys)	NC_000002.11:g.179392260C>T	VUS	3 labs	74a0ecb2a6
7:151478454 PRKAG2 G>A	7	151478454	151478454	G	A	PRKAG2	c.250C>T	NM_016203.4	NP_057287.2:p.(Arg84Trp)	NC_000007.13:g.151478454G>A	(Likely) benign	2 labs	74ad199932
4:175443156 HPGD C>T	4	175443156	175443156	C	T	HPGD	c.156G>A	NM_000860.6	NP_000851.2:p.(Gln52=)	NC_000004.11:g.175443156C>T	(Likely) benign	2 labs	74b14e5723
18:44126909 LOXHD1 T>C	18	44126909	44126909	T	C	LOXHD1	c.3463A>G	NM_144612.7	NP_653213.6:p.(Arg1155Gly)	NC_000018.9:g.44126909T>C	(Likely) benign	2 labs	74b45cba72
18:21121045 NPC1 A>G	18	21121045	21121045	A	G	NPC1	c.2501T>C	NM_000271.5	NP_000262.2:p.(Met834Thr)	NC_000018.9:g.21121045A>G	VUS	2 labs	74c6c5dad1
2:179427187 TTN C>A	2	179427187	179427187	C	A	TTN	c.78749G>T	NM_001256850.1	NP_001243779.1:p.(Gly26250Val)	NC_000002.11:g.179427187C>A	VUS	3 labs	74cf68ebc9
1:11907172 NPPA G>A	1	11907172	11907172	G	A	NPPA	c.448C>T	NM_006172.4	NP_006163.1:p.(Arg150Trp)	NC_000001.10:g.11907172G>A	VUS	3 labs	74d4694f93
17:41209146 BRCA1 A>C	17	41209146	41209146	A	C	BRCA1	c.5200T>G	NM_007294.4	NP_009225.1:p.(Phe1734Val)	NC_000017.10:g.41209146A>C	(Likely) pathogenic	2 labs	74d4e96f26
2:166788336 TTC21B T>C	2	166788336	166788336	T	C	TTC21B	c.826A>G	NM_024753.5	NP_079029.3:p.(Thr276Ala)	NC_000002.11:g.166788336T>C	(Likely) benign	2 labs	74e304a034
8:43052985 HGSNAT C>G	8	43052985	43052985	C	G	HGSNAT	c.1616C>G	NM_152419.3	NP_689632.2:p.(Ser539Cys)	NC_000008.10:g.43052985C>G	(Likely) pathogenic	2 labs	74e465e53c
6:45882039 CLIC5 G>A	6	45882039	45882039	G	A	CLIC5	c.991C>T	NM_001114086.2	NP_001107558.1:p.(Arg331Trp)	NC_000006.11:g.45882039G>A	VUS	2 labs	74e807bdf8
7:82764425 PCLO C>G	7	82764425	82764425	C	G	PCLO	c.2441G>C	NM_033026.6	NP_149015.2:p.(Ser814Thr)	NC_000007.13:g.82764425C>G	(Likely) benign	2 labs	74e8afef43
13:110857762 COL4A1 G>A	13	110857762	110857762	G	A	COL4A1	c.904-9C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110857762G>A	(Likely) benign	3 labs	7502e19fcb
X:46949281 RGN C>G	X	46949281	46949281	C	G	RGN	c.453C>G	NM_152869.4	NP_690608.1:p.(Asp151Glu)	NC_000023.10:g.46949281C>G	(Likely) benign	2 labs	7505b3b8e4
2:179408691 TTN A>G	2	179408691	179408691	A	G	TTN	c.96180T>C	NM_001267550.2	NP_001254479.2:p.(Ile32060=)	NC_000002.11:g.179408691A>G	(Likely) benign	3 labs	75068d5403
11:85961371 EED A>C	11	85961371	85961371	A	C	EED	c.148A>C	NM_003797.5	NP_003788.2:p.(Thr50Pro)	NC_000011.9:g.85961371A>C	(Likely) benign	2 labs	7509f38944
11:108129807 ATM G>C	11	108129807	108129807	G	C	ATM	c.2466+5G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129807G>C	(Likely) pathogenic	3 labs	750c74bfd8
1:156105704 LMNA G>A	1	156105704	156105704	G	A	LMNA	c.949G>A	NM_170707.4	NP_733821.1:p.(Glu317Lys)	NC_000001.10:g.156105704G>A	(Likely) pathogenic	4 labs	75155b566e
18:29126574 DSG2 G>A	18	29126574	29126574	G	A	DSG2	c.3225G>A	NM_001943.5	NP_001934.2:p.(Thr1075=)	NC_000018.9:g.29126574G>A	(Likely) benign	3 labs	751644f6d9
12:9013481 A2ML1 G>A	12	9013481	9013481	G	A	A2ML1	c.3269G>A	NM_144670.6	NP_653271.3:p.(Gly1090Asp)	NC_000012.11:g.9013481G>A	(Likely) benign	4 labs	75191e0133
16:68857441 CDH1 T>C	16	68857441	68857441	T	C	CDH1	c.2076T>C	NM_004360.5	NP_004351.1:p.(Ala692=)	NC_000016.9:g.68857441T>C	(Likely) benign	3 labs	7525e4faf1
5:155935720 SGCD T>C	5	155935720	155935720	T	C	SGCD	c.294+8T>C	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.155935720T>C	(Likely) benign	5 labs	7527b383e9
19:11224096 LDLR G>T	19	11224096	11224096	G	T	LDLR	c.1329G>T	NM_000527.5	NP_000518.1:p.(Trp443Cys)	NC_000019.9:g.11224096G>T	(Likely) pathogenic	2 labs	752b02cab8
13:111121653 COL4A2 G>A	13	111121653	111121653	G	A	COL4A2	c.2185G>A	NM_001846.4	NP_001837.2:p.(Gly729Arg)	NC_000013.10:g.111121653G>A	VUS	2 labs	753035cdf8
7:6038812 PMS2 C>T	7	6038812	6038812	C	T	PMS2	c.632G>A	NM_000535.7	NP_000526.2:p.(Arg211Gln)	NC_000007.13:g.6038812C>T	VUS	2 labs	754bf88452
11:119155984 CBL G>A	11	119155984	119155984	G	A	CBL	c.1649G>A	NM_005188.4	NP_005179.2:p.(Arg550Gln)	NC_000011.9:g.119155984G>A	VUS	3 labs	75523b1761
5:10254817 CCT5 A>G	5	10254817	10254817	A	G	CCT5	c.198A>G	NM_012073.5	NP_036205.1:p.(Gly66=)	NC_000005.9:g.10254817A>G	(Likely) benign	2 labs	7553703125
2:215609826 BARD1 C>T	2	215609826	215609826	C	T	BARD1	c.1868G>A	NM_000465.4	NP_000456.2:p.(Gly623Glu)	NC_000002.11:g.215609826C>T	VUS	2 labs	755ab8a333
X:132833932 GPC3 C>A	X	132833932	132833932	C	A	GPC3	c.1157G>T	NM_004484.4	NP_004475.1:p.(Ser386Ile)	NC_000023.10:g.132833932C>A	VUS	2 labs	755f992bdc
12:32764184 FGD4 G>A	12	32764184	32764184	G	A	FGD4	c.1305G>A	NM_139241.3	NP_640334.2:p.(Arg435=)	NC_000012.11:g.32764184G>A	(Likely) benign	2 labs	75639ec91b
6:129670548 LAMA2 C>T	6	129670548	129670548	C	T	LAMA2	c.4523+19C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129670548C>T	(Likely) benign	3 labs	7563e6edc6
3:52485422 TNNC1 G>A	3	52485422	52485422	G	A	TNNC1	c.439C>T	NM_003280.3	NP_003271.1:p.(Arg147Cys)	NC_000003.11:g.52485422G>A	(Likely) pathogenic	2 labs	756d39ea18
11:118178007 CD3E C>T	11	118178007	118178007	C	T	CD3E	c.54C>T	NM_000733.4	NP_000724.1:p.(Gly18=)	NC_000011.9:g.118178007C>T	(Likely) benign	2 labs	7571462088
2:228112275 COL4A3 G>T	2	228112275	228112275	G	T	COL4A3	c.443G>T	NM_000091.5	NP_000082.2:p.(Gly148Val)	NC_000002.11:g.228112275G>T	(Likely) pathogenic	2 labs	758b091263
16:16295863 ABCC6 T>C	16	16295863	16295863	T	C	ABCC6	c.1171A>G	NM_001171.6	NP_001162.5:p.(Arg391Gly)	NC_000016.9:g.16295863T>C	(Likely) benign	3 labs	75930c4df8
12:2716271 CACNA1C G>A	12	2716271	2716271	G	A	CACNA1C	c.3331G>A	NM_000719.7	NP_000710.5:p.(Val1111Ile)	NC_000012.11:g.2716271G>A	VUS	3 labs	7596fd2037
16:16267140 ABCC6 C>A	16	16267140	16267140	C	A	ABCC6	c.2787+1G>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16267140C>A	(Likely) pathogenic	3 labs	759d846733
13:111132556 COL4A2 C>T	13	111132556	111132556	C	T	COL4A2	c.2588-11C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111132556C>T	(Likely) benign	3 labs	75aa0b7465
2:233406191 CHRNG C>CA	2	233406191	233406192	C	CA	CHRNG	c.459dup	NM_005199.5	NP_005190.4:p.(Val154SerfsTer24)	NC_000002.11:g.233406192dup	(Likely) pathogenic	3 labs	75aa655152
14:51080016 ATL1 G>A	14	51080016	51080016	G	A	ATL1	c.670G>A	NM_015915.5	NP_056999.2:p.(Glu224Lys)	NC_000014.8:g.51080016G>A	VUS	2 labs	75b9a17793
2:179438976 TTN A>G	2	179438976	179438976	A	G	TTN	c.71883T>C	NM_001267550.2	NP_001254479.2:p.(Val23961=)	NC_000002.11:g.179438976A>G	(Likely) benign	6 labs	75bd91353a
2:179399226 TTN A>G	2	179399226	179399226	A	G	TTN	c.102116T>C	NM_001267550.2	NP_001254479.2:p.(Phe34039Ser)	NC_000002.11:g.179399226A>G	VUS	2 labs	84954a1ae1
13:32914174 BRCA2 C>T	13	32914174	32914174	C	T	BRCA2	c.5682C>T	NM_000059.4	NP_000050.3:p.(Tyr1894=)	NC_000013.10:g.32914174C>T	(Likely) benign	2 labs	75d4dbc521
5:149440481 CSF1R C>G	5	149440481	149440481	C	G	CSF1R	c.1913G>C	NM_005211.4	NP_005202.2:p.(Ser638Thr)	NC_000005.9:g.149440481C>G	VUS	4 labs	75def59efe
2:1499899 TPO C>T	2	1499899	1499899	C	T	TPO	c.2145C>T	NM_000547.6	NP_000538.3:p.(Pro715=)	NC_000002.11:g.1499899C>T	(Likely) benign	3 labs	75e305e92c
2:179468659 TTN G>A	2	179468659	179468659	G	A	TTN	c.54755C>T	NM_001267550.2	NP_001254479.2:p.(Ala18252Val)	NC_000002.11:g.179468659G>A	VUS	3 labs	75e34eab9d
22:17687997 ADA2 C>T	22	17687997	17687997	C	T	ADA2	c.506G>A	NM_001282225.2	NP_001269154.1:p.(Arg169Gln)	NC_000022.10:g.17687997C>T	(Likely) pathogenic	5 labs	75e8f6c128
15:38631930 SPRED1 C>A	15	38631930	38631930	C	A	SPRED1	c.424-8C>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38631930C>A	(Likely) benign	3 labs	75f147d6cf
18:28660261 DSC2 C>T	18	28660261	28660261	C	T	DSC2	c.1321G>A	NM_004949.5	NP_004940.1:p.(Ala441Thr)	NC_000018.9:g.28660261C>T	VUS	2 labs	84d6f02f35
2:71738977 DYSF G>A	2	71738977	71738977	G	A	DYSF	c.383G>A	NM_003494.4	NP_003485.1:p.(Gly128Glu)	NC_000002.11:g.71738977G>A	(Likely) benign	4 labs	75f1eb133e
4:1808916 FGFR3 CAG>C	4	1808916	1808918	CAG	C	FGFR3	c.2349_2350del	NM_000142.5	NP_000133.1:p.(Asp785ArgfsTer31)	NC_000004.11:g.1808917_1808918del	VUS	2 labs	75fc1a2f4c
18:55226380 FECH C>T	18	55226380	55226380	C	T	FECH	c.819G>A	NM_001012515.4	NP_001012533.1:p.(Met273Ile)	NC_000018.9:g.55226380C>T	VUS	2 labs	76016a5d1e
10:85960395 CDHR1 A>G	10	85960395	85960395	A	G	CDHR1	c.477A>G	NM_033100.4	NP_149091.1:p.(Ala159=)	NC_000010.10:g.85960395A>G	(Likely) benign	2 labs	760c5d2849
1:43804305 MPL G>C	1	43804305	43804305	G	C	MPL	c.305G>C	NM_005373.3	NP_005364.1:p.(Arg102Pro)	NC_000001.10:g.43804305G>C	(Likely) pathogenic	5 labs	762ae7e14d
1:169511734 F5 T>C	1	169511734	169511734	T	C	F5	c.2594A>G	NM_000130.5	NP_000121.2:p.(His865Arg)	NC_000001.10:g.169511734T>C	(Likely) benign	2 labs	7637908f04
9:80020874 VPS13A C>A	9	80020874	80020874	C	A	VPS13A	c.9370C>A	NM_033305.3	NP_150648.2:p.(His3124Asn)	NC_000009.11:g.80020874C>A	(Likely) benign	3 labs	76474f54c8
19:10265044 DNMT1 G>A	19	10265044	10265044	G	A	DNMT1	c.1944C>T	NM_001130823.3	NP_001124295.1:p.(Phe648=)	NC_000019.9:g.10265044G>A	(Likely) benign	3 labs	764b2385d7
X:70347781 MED12 A>G	X	70347781	70347781	A	G	MED12	c.3020A>G	NM_005120.3	NP_005111.2:p.(Asn1007Ser)	NC_000023.10:g.70347781A>G	(Likely) pathogenic	2 labs	764e67a4fa
14:23857517 MYH6 G>A	14	23857517	23857517	G	A	MYH6	c.4206C>T	NM_002471.4	NP_002462.2:p.(Ala1402=)	NC_000014.8:g.23857517G>A	(Likely) benign	3 labs	76513c9a87
10:92676025 ANKRD1 A>G	10	92676025	92676025	A	G	ANKRD1	c.554T>C	NM_014391.3	NP_055206.2:p.(Leu185Pro)	NC_000010.10:g.92676025A>G	VUS	2 labs	76672d18a4
17:41228505 BRCA1 CT>C	17	41228505	41228508	CT	C	BRCA1	c.4483del	NM_007294.4	NP_009225.1:p.(Arg1495GlyfsTer10)	NC_000017.10:g.41228508del	(Likely) pathogenic	2 labs	76696d05c8
14:94844843 SERPINA1 T>G	14	94844843	94844843	T	G	SERPINA1	c.1200A>C	NM_001127701.2	NP_001121173.1:p.(Glu400Asp)	NC_000014.8:g.94844843T>G	(Likely) benign	2 labs	766fea44ef
13:77566309 CLN5 T>C	13	77566309	77566309	T	C	CLN5	c.76T>C	NM_006493.4	NP_006484.2:p.(Trp26Arg)	NC_000013.10:g.77566309T>C	(Likely) benign	3 labs	7678653c96
2:179434330 TTN A>G	2	179434330	179434330	A	G	TTN	c.76529T>C	NM_001267550.2	NP_001254479.2:p.(Ile25510Thr)	NC_000002.11:g.179434330A>G	VUS	4 labs	7688afc2c8
11:22271870 ANO5 A>T	11	22271870	22271870	A	T	ANO5	c.966A>T	NM_213599.3	NP_998764.1:p.(Leu322Phe)	NC_000011.9:g.22271870A>T	(Likely) benign	3 labs	76a5c17f7a
2:179413506 TTN G>C	2	179413506	179413506	G	C	TTN	c.92847C>G	NM_001267550.2	NP_001254479.2:p.(Tyr30949Ter)	NC_000002.11:g.179413506G>C	(Likely) pathogenic	3 labs	76c09ebc1d
12:7045891 ATN1 ACAG>A	12	7045891	7045938	ACAG	A	ATN1	c.1506_1508del	NM_001007026.2	NP_001007027.1:p.(Gln502del)	NC_000012.11:g.7045936_7045938del	(Likely) benign	2 labs	76c457e022
15:65370260 KBTBD13 C>G	15	65370260	65370260	C	G	KBTBD13	c.1107C>G	NM_001101362.3	NP_001094832.1:p.(Ile369Met)	NC_000015.9:g.65370260C>G	VUS	2 labs	76c84dc0ce
5:14389467 TRIO A>G	5	14389467	14389467	A	G	TRIO	c.4018A>G	NM_007118.4	NP_009049.2:p.(Ile1340Val)	NC_000005.9:g.14389467A>G	VUS	2 labs	76d1a6d559
1:161332301 SDHC G>A	1	161332301	161332301	G	A	SDHC	c.424G>A	NM_001035511.2	NP_001030588.1:p.(Ala142Thr)	NC_000001.10:g.161332301G>A	(Likely) benign	2 labs	76d3bf0e5d
11:108155013 ATM A>G	11	108155013	108155013	A	G	ATM	c.3806A>G	NM_000051.4	NP_000042.3:p.(Lys1269Arg)	NC_000011.9:g.108155013A>G	VUS	3 labs	76f14bfad1
10:112570208 RBM20 G>A	10	112570208	112570208	G	A	RBM20	c.1868G>A	NM_001134363.3	NP_001127835.2:p.(Arg623Gln)	NC_000010.10:g.112570208G>A	VUS	2 labs	76f6f44823
X:31676096 DMD G>A	X	31676096	31676096	G	A	DMD	c.8027+11C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31676096G>A	(Likely) benign	2 labs	76fb498166
1:227081811 PSEN2 C>T	1	227081811	227081811	C	T	PSEN2	c.1176C>T	NM_000447.3	NP_000438.2:p.(Phe392=)	NC_000001.10:g.227081811C>T	(Likely) benign	2 labs	7707e45c0e
2:179435120 TTN T>C	2	179435120	179435120	T	C	TTN	c.75739A>G	NM_001267550.2	NP_001254479.2:p.(Thr25247Ala)	NC_000002.11:g.179435120T>C	VUS	2 labs	77129bd32f
15:48807637 FBN1 C>T	15	48807637	48807637	C	T	FBN1	c.1415=	NM_000138.5	NP_000129.3:p.(Tyr472=)	NC_000015.9:g.48807637C>T	(Likely) benign	2 labs	772417b392
1:16260012 SPEN C>T	1	16260012	16260012	C	T	SPEN	c.7277C>T	NM_015001.3	NP_055816.2:p.(Ser2426Phe)	NC_000001.10:g.16260012C>T	(Likely) benign	2 labs	7727574994
X:147018146 FMR1 C>T	X	147018146	147018146	C	T	FMR1	c.990+14C>T	NM_002024.6	NP_002015.1:p.?	NC_000023.10:g.147018146C>T	(Likely) benign	2 labs	772dc999de
2:240003870 HDAC4 G>A	2	240003870	240003870	G	A	HDAC4	c.2565C>T	NM_006037.4	NP_006028.2:p.(Pro855=)	NC_000002.11:g.240003870G>A	(Likely) benign	2 labs	773c4775c6
2:179636097 TTN A>G	2	179636097	179636097	A	G	TTN	c.7957T>C	NM_001267550.2	NP_001254479.2:p.(Leu2653=)	NC_000002.11:g.179636097A>G	(Likely) benign	2 labs	775995800b
X:153581786 FLNA G>A	X	153581786	153581786	G	A	FLNA	c.5900C>T	NM_001110556.2	NP_001104026.1:p.(Ser1967Phe)	NC_000023.10:g.153581786G>A	VUS	2 labs	775b918bd3
2:179614086 TTN G>C	2	179614086	179614086	G	C	TTN	c.13041C>G	NM_133379.5	NP_596870.2:p.(Ser4347Arg)	NC_000002.11:g.179614086G>C	VUS	2 labs	776121a953
22:38130459 TRIOBP G>T	22	38130459	38130459	G	T	TRIOBP	c.4116G>T	NM_001039141.3	NP_001034230.1:p.(Glu1372Asp)	NC_000022.10:g.38130459G>T	(Likely) benign	2 labs	77685c43b3
1:156108298 LMNA C>T	1	156108298	156108298	C	T	LMNA	c.1718C>T	NM_170707.4	NP_733821.1:p.(Ser573Leu)	NC_000001.10:g.156108298C>T	VUS	4 labs	776b461a8c
2:216251538 FN1 G>A	2	216251538	216251538	G	A	FN1	c.4486C>T	NM_212482.4	NP_997647.2:p.(Arg1496Trp)	NC_000002.11:g.216251538G>A	(Likely) benign	4 labs	776e058218
17:78081551 GAA T>C	17	78081551	78081551	T	C	GAA	c.858+30T>C	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081551T>C	(Likely) benign	3 labs	778da1625c
5:37226858 CPLANE1 T>G	5	37226858	37226858	T	G	CPLANE1	c.1839A>C	NM_023073.4	NP_075561.3:p.(Lys613Asn)	NC_000005.9:g.37226858T>G	VUS	3 labs	7791ca0e66
4:190882973 FRG1 A>G	4	190882973	190882973	A	G	FRG1	c.630-4A>G	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190882973A>G	(Likely) benign	2 labs	779ec7b3ae
17:41245346 BRCA1 TTTCTC>T	17	41245346	41245355	TTTCTC	T	BRCA1	c.2197_2201del	NM_007294.4	NP_009225.1:p.(Glu733ThrfsTer5)	NC_000017.10:g.41245351_41245355del	(Likely) pathogenic	6 labs	77ac4ed3d7
19:17897438 FCHO1 G>T	19	17897438	17897438	G	T	FCHO1	c.2482G>T	NM_015122.3	NP_055937.1:p.(Gly828Cys)	NC_000019.9:g.17897438G>T	VUS	2 labs	77b8dff5e8
9:94493221 ROR2 C>T	9	94493221	94493221	C	T	ROR2	c.1154G>A	NM_004560.4	NP_004551.2:p.(Arg385His)	NC_000009.11:g.94493221C>T	VUS	2 labs	77bcef8198
3:12546693 TSEN2 A>G	3	12546693	12546693	A	G	TSEN2	c.872A>G	NM_025265.4	NP_079541.1:p.(Tyr291Cys)	NC_000003.11:g.12546693A>G	VUS	2 labs	77c1662a33
22:41573426 EP300 A>C	22	41573426	41573426	A	C	EP300	c.5711A>C	NM_001429.4	NP_001420.2:p.(Gln1904Pro)	NC_000022.10:g.41573426A>C	(Likely) benign	2 labs	77cc4c9363
16:23614884 PALB2 G>GT	16	23614884	23614885	G	GT	PALB2	c.3456dup	NM_024675.4	NP_078951.2:p.(Pro1153ThrfsTer4)	NC_000016.9:g.23614885dup	(Likely) pathogenic	4 labs	77d922e69e
1:169512027 F5 T>C	1	169512027	169512027	T	C	F5	c.2301A>G	NM_000130.5	NP_000121.2:p.(Ser767=)	NC_000001.10:g.169512027T>C	(Likely) benign	2 labs	77e2e77f1e
6:7585887 DSP A>T	6	7585887	7585887	A	T	DSP	c.8392A>T	NM_004415.4	NP_004406.2:p.(Thr2798Ser)	NC_000006.11:g.7585887A>T	VUS	2 labs	77e3de55aa
18:31324934 ASXL3 A>G	18	31324934	31324934	A	G	ASXL3	c.5122A>G	NM_030632.3	NP_085135.1:p.(Met1708Val)	NC_000018.9:g.31324934A>G	(Likely) benign	2 labs	77f4595739
10:121432114 BAG3 G>A	10	121432114	121432114	G	A	BAG3	c.855G>A	NM_004281.4	NP_004272.2:p.(Thr285=)	NC_000010.10:g.121432114G>A	(Likely) benign	5 labs	77f5799280
1:154560602 ADAR G>A	1	154560602	154560602	G	A	ADAR	c.2133C>T	NM_001193495.2	NP_001180424.1:p.(Asn711=)	NC_000001.10:g.154560602G>A	(Likely) benign	4 labs	780b4b4add
11:47371578 MYBPC3 G>A	11	47371578	47371578	G	A	MYBPC3	c.492C>T	NM_000256.3	NP_000247.2:p.(Gly164=)	NC_000011.9:g.47371578G>A	(Likely) benign	5 labs	781264d4ae
10:104159196 NFKB2 A>G	10	104159196	104159196	A	G	NFKB2	c.1269=	NM_001288724.1	NP_001275653.1:p.(Pro423=)	NC_000010.10:g.104159196A>G	(Likely) benign	2 labs	781358bd6a
7:42004600 GLI3 G>A	7	42004600	42004600	G	A	GLI3	c.4071C>T	NM_000168.6	NP_000159.3:p.(Tyr1357=)	NC_000007.13:g.42004600G>A	(Likely) benign	3 labs	78181d9482
15:89392891 ACAN C>T	15	89392891	89392891	C	T	ACAN	c.1955C>T	NM_013227.4	NP_037359.3:p.(Thr652Met)	NC_000015.9:g.89392891C>T	VUS	2 labs	78265fcfae
4:100503136 MTTP C>G	4	100503136	100503136	C	G	MTTP	c.136C>G	NM_000253.4	NP_000244.2:p.(Arg46Gly)	NC_000004.11:g.100503136C>G	(Likely) benign	2 labs	7827c1dc93
17:39923614 JUP A>G	17	39923614	39923614	A	G	JUP	c.909+17T>C	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39923614A>G	(Likely) benign	5 labs	782851f784
3:64133384 PRICKLE2 A>G	3	64133384	64133384	A	G	PRICKLE2	c.788-6T>C	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64133384A>G	(Likely) benign	2 labs	783bbbd229
17:37821672 TCAP C>G	17	37821672	37821672	C	G	TCAP	c.60C>G	NM_003673.4	NP_003664.1:p.(Ala20=)	NC_000017.10:g.37821672C>G	(Likely) benign	6 labs	78434ede39
2:240029736 HDAC4 T>C	2	240029736	240029736	T	C	HDAC4	c.2097+10A>G	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240029736T>C	(Likely) benign	2 labs	78566e18b2
5:90041574 ADGRV1 T>C	5	90041574	90041574	T	C	ADGRV1	c.10936T>C	NM_032119.4	NP_115495.3:p.(Ser3646Pro)	NC_000005.9:g.90041574T>C	(Likely) benign	4 labs	7860f076fa
12:21971087 ABCC9 A>G	12	21971087	21971087	A	G	ABCC9	c.3768T>C	NM_020297.4	NP_064693.2:p.(Leu1256=)	NC_000012.11:g.21971087A>G	(Likely) benign	5 labs	7869c09479
16:89350038 ANKRD11 G>A	16	89350038	89350038	G	A	ANKRD11	c.2912C>T	NM_001256182.2	NP_001243111.1:p.(Ala971Val)	NC_000016.9:g.89350038G>A	(Likely) benign	3 labs	787548d970
15:44876082 SPG11 A>G	15	44876082	44876082	A	G	SPG11	c.5796T>C	NM_025137.4	NP_079413.3:p.(His1932=)	NC_000015.9:g.44876082A>G	(Likely) benign	2 labs	78783c5afb
12:109994870 MMAB A>T	12	109994870	109994870	A	T	MMAB	c.716T>A	NM_052845.4	NP_443077.1:p.(Met239Lys)	NC_000012.11:g.109994870A>T	(Likely) benign	2 labs	787a7d92e1
9:103054951 INVS T>C	9	103054951	103054951	T	C	INVS	c.2412T>C	NM_014425.5	NP_055240.2:p.(Ser804=)	NC_000009.11:g.103054951T>C	(Likely) benign	2 labs	7886e8fb7b
20:8689379 PLCB1 G>A	20	8689379	8689379	G	A	PLCB1	c.1230G>A	NM_182734.3	NP_877398.1:p.(Ser410=)	NC_000020.10:g.8689379G>A	(Likely) benign	3 labs	788bb4dfbe
14:23898994 MYH7 G>A	14	23898994	23898994	G	A	MYH7	c.1128C>T	NM_000257.4	NP_000248.2:p.(Asp376=)	NC_000014.8:g.23898994G>A	(Likely) benign	5 labs	78a6887894
8:6478986 MCPH1 C>T	8	6478986	6478986	C	T	MCPH1	c.2226C>T	NM_024596.5	NP_078872.3:p.(Ser742=)	NC_000008.10:g.6478986C>T	(Likely) benign	3 labs	78b6d0c3f0
4:114279422 ANK2 A>G	4	114279422	114279422	A	G	ANK2	c.9648A>G	NM_001148.6	NP_001139.3:p.(Glu3216=)	NC_000004.11:g.114279422A>G	(Likely) benign	2 labs	78bce3bb92
14:77493647 IRF2BPL AGCG>A	14	77493647	77493676	AGCG	A	IRF2BPL	c.486_488del	NM_024496.4	NP_078772.1:p.(Ala164del)	NC_000014.8:g.77493674_77493676del	(Likely) benign	2 labs	78bfa99b1e
9:113538122 MUSK G>A	9	113538122	113538122	G	A	MUSK	c.1239G>A	NM_005592.4	NP_005583.1:p.(Met413Ile)	NC_000009.11:g.113538122G>A	(Likely) benign	2 labs	78e2484902
11:17600033 OTOG G>A	11	17600033	17600033	G	A	OTOG	c.2755G>A	NM_001277269.2	NP_001264198.1:p.(Ala919Thr)	NC_000011.9:g.17600033G>A	(Likely) benign	2 labs	78e9978e9c
17:18059494 MYO15A C>T	17	18059494	18059494	C	T	MYO15A	c.8460-15C>T	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18059494C>T	(Likely) benign	2 labs	78ee2ebfd0
10:123298158 FGFR2 T>C	10	123298158	123298158	T	C	FGFR2	c.696A>G	NM_022970.3	NP_075259.4:p.(Val232=)	NC_000010.10:g.123298158T>C	(Likely) benign	3 labs	78f3becbae
2:179498303 TTN T>C	2	179498303	179498303	T	C	TTN	c.42783A>G	NM_001267550.2	NP_001254479.2:p.(Lys14261=)	NC_000002.11:g.179498303T>C	(Likely) benign	4 labs	78fbf4684c
8:126052108 WASHC5 A>C	8	126052108	126052108	A	C	WASHC5	c.2883T>G	NM_014846.4	NP_055661.3:p.(Ile961Met)	NC_000008.10:g.126052108A>C	VUS	2 labs	78fd946d38
16:3293447 MEFV C>G	16	3293447	3293447	C	G	MEFV	c.2040G>C	NM_000243.2	NP_000234.1:p.(Met680Ile)	NC_000016.9:g.3293447C>G	(Likely) pathogenic	6 labs	7901eb08b8
12:22040784 ABCC9 C>A	12	22040784	22040784	C	A	ABCC9	c.1887G>T	NM_020297.4	NP_064693.2:p.(Glu629Asp)	NC_000012.11:g.22040784C>A	(Likely) benign	6 labs	790449a845
2:21260868 APOB G>A	2	21260868	21260868	G	A	APOB	c.499C>T	NM_000384.3	NP_000375.3:p.(Pro167Ser)	NC_000002.11:g.21260868G>A	VUS	2 labs	792037bbc1
18:28666616 DSC2 G>A	18	28666616	28666616	G	A	DSC2	c.865C>T	NM_004949.5	NP_004940.1:p.(Pro289Ser)	NC_000018.9:g.28666616G>A	VUS	5 labs	792a805170
19:11216301 LDLR C>T	19	11216301	11216301	C	T	LDLR	c.694+25C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216301C>T	(Likely) benign	2 labs	793ffe8c90
4:77676155 SHROOM3 G>A	4	77676155	77676155	G	A	SHROOM3	c.4519G>A	NM_020859.4	NP_065910.3:p.(Glu1507Lys)	NC_000004.11:g.77676155G>A	(Likely) benign	2 labs	7942e109dd
17:29664899 NF1 G>A	17	29664899	29664899	G	A	NF1	c.6641+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664899G>A	(Likely) pathogenic	2 labs	7949cdf0f9
19:41858921 TGFB1 G>A	19	41858921	41858921	G	A	TGFB1	c.29C>T	NM_000660.7	NP_000651.3:p.(Pro10Leu)	NC_000019.9:g.41858921G>A	(Likely) benign	2 labs	7958900b1c
18:48581163 SMAD4 T>A	18	48581163	48581163	T	A	SMAD4	c.467T>A	NM_005359.6	NP_005350.1:p.(Met156Lys)	NC_000018.9:g.48581163T>A	VUS	2 labs	892d0ecbc4
17:41203148 BRCA1 G>C	17	41203148	41203148	G	C	BRCA1	c.5278-14C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41203148G>C	(Likely) benign	5 labs	795accb9f6
15:48755406 FBN1 G>A	15	48755406	48755406	G	A	FBN1	c.5097C>T	NM_000138.5	NP_000129.3:p.(Tyr1699=)	NC_000015.9:g.48755406G>A	(Likely) benign	2 labs	796b8e5ecb
9:138642022 KCNT1 G>A	9	138642022	138642022	G	A	KCNT1	c.333G>A	NM_020822.3	NP_065873.2:p.(Ser111=)	NC_000009.11:g.138642022G>A	(Likely) benign	4 labs	796bd16237
16:89350178 ANKRD11 G>A	16	89350178	89350178	G	A	ANKRD11	c.2772C>T	NM_001256182.2	NP_001243111.1:p.(Thr924=)	NC_000016.9:g.89350178G>A	(Likely) benign	3 labs	796e081555
2:179478567 TTN T>G	2	179478567	179478567	T	G	TTN	c.49443A>C	NM_001267550.2	NP_001254479.2:p.(Pro16481=)	NC_000002.11:g.179478567T>G	(Likely) benign	3 labs	7986f3354f
9:111662583 ELP1 C>G	9	111662583	111662583	C	G	ELP1	c.2087G>C	NM_003640.5	NP_003631.2:p.(Arg696Pro)	NC_000009.11:g.111662583C>G	(Likely) pathogenic	2 labs	798ae1c318
19:7607441 PNPLA6 C>T	19	7607441	7607441	C	T	PNPLA6	c.1280-6C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7607441C>T	(Likely) benign	2 labs	798df84c7b
11:108123641 ATM T>G	11	108123641	108123641	T	G	ATM	c.1898+2T>G	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108123641T>G	(Likely) pathogenic	4 labs	7997695b3e
16:11647492 LITAF T>C	16	11647492	11647492	T	C	LITAF	c.274A>G	NM_004862.4	NP_004853.2:p.(Ile92Val)	NC_000016.9:g.11647492T>C	(Likely) benign	2 labs	79a28f085c
19:7607564 PNPLA6 T>C	19	7607564	7607564	T	C	PNPLA6	c.1389+8T>C	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7607564T>C	(Likely) benign	2 labs	79b055351e
10:76790461 KAT6B C>T	10	76790461	76790461	C	T	KAT6B	c.5879C>T	NM_012330.4	NP_036462.2:p.(Thr1960Met)	NC_000010.10:g.76790461C>T	(Likely) benign	2 labs	79b438fb58
11:19209824 CSRP3 G>A	11	19209824	19209824	G	A	CSRP3	c.140C>T	NM_003476.5	NP_003467.1:p.(Thr47Met)	NC_000011.9:g.19209824G>A	VUS	5 labs	79c08332c0
1:158584091 SPTA1 A>G	1	158584091	158584091	A	G	SPTA1	c.6794T>C	NM_003126.4	NP_003117.2:p.(Ile2265Thr)	NC_000001.10:g.158584091A>G	(Likely) benign	2 labs	79c3574321
6:112508770 LAMA4 G>T	6	112508770	112508770	G	T	LAMA4	c.848=	NM_001105206.3	NP_001098676.2:p.(Asp283=)	NC_000006.11:g.112508770G>T	(Likely) benign	2 labs	79c3d1896a
13:32954252 BRCA2 G>C	13	32954252	32954252	G	C	BRCA2	c.9226G>C	NM_000059.4	NP_000050.3:p.(Gly3076Arg)	NC_000013.10:g.32954252G>C	(Likely) pathogenic	2 labs	79c71f740f
X:135292022 FHL1 C>T	X	135292022	135292022	C	T	FHL1	c.689-8C>T	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292022C>T	(Likely) benign	4 labs	79cb96be24
2:71838597 DYSF C>A	2	71838597	71838597	C	A	DYSF	c.4059C>A	NM_001130981.2	NP_001124453.1:p.(Ile1353=)	NC_000002.11:g.71838597C>A	(Likely) benign	3 labs	79cf0dc3b9
13:113773159 F7 G>A	13	113773159	113773159	G	A	F7	c.1238G>A	NM_000131.4	NP_000122.1:p.(Arg413Gln)	NC_000013.10:g.113773159G>A	(Likely) benign	2 labs	79deb44957
18:21120444 NPC1 T>C	18	21120444	21120444	T	C	NPC1	c.2572A>G	NM_000271.5	NP_000262.2:p.(Ile858Val)	NC_000018.9:g.21120444T>C	(Likely) benign	4 labs	79e48c31a9
2:48018236 MSH6 G>T	2	48018236	48018236	G	T	MSH6	c.431G>T	NM_000179.3	NP_000170.1:p.(Ser144Ile)	NC_000002.11:g.48018236G>T	(Likely) benign	5 labs	79e790eff5
6:123539904 TRDN C>T	6	123539904	123539904	C	T	TRDN	c.2051-19G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123539904C>T	(Likely) benign	2 labs	79fa04d7f2
13:32937313 BRCA2 TA>T	13	32937313	32937314	TA	T	BRCA2	c.7977-2del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937314del	(Likely) pathogenic	3 labs	79fdea2495
12:53343318 KRT18 C>T	12	53343318	53343318	C	T	KRT18	c.361C>T	NM_000224.3	NP_000215.1:p.(Pro121Ser)	NC_000012.11:g.53343318C>T	(Likely) benign	2 labs	7a053887f0
2:179486478 TTN T>C	2	179486478	179486478	T	C	TTN	c.45083-10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179486478T>C	(Likely) benign	6 labs	7a15feadca
2:1481155 TPO G>T	2	1481155	1481155	G	T	TPO	c.1117G>T	NM_000547.6	NP_000538.3:p.(Ala373Ser)	NC_000002.11:g.1481155G>T	(Likely) benign	3 labs	7a2b31c19f
20:42744764 JPH2 G>T	20	42744764	42744764	G	T	JPH2	c.1551C>A	NM_020433.5	NP_065166.2:p.(Ser517Arg)	NC_000020.10:g.42744764G>T	VUS	2 labs	7a2bea986d
11:108121593 ATM CAA>C	11	108121593	108121595	CAA	C	ATM	c.1402_1403del	NM_000051.4	NP_000042.3:p.(Lys468GlufsTer18)	NC_000011.9:g.108121594_108121595del	(Likely) pathogenic	3 labs	7a4391d86b
7:6026762 PMS2 G>C	7	6026762	6026762	G	C	PMS2	c.1634C>G	NM_000535.7	NP_000526.2:p.(Ser545Cys)	NC_000007.13:g.6026762G>C	VUS	2 labs	7a48e4c1ef
14:23892910 MYH7 A>G	14	23892910	23892910	A	G	MYH7	c.2945T>C	NM_000257.4	NP_000248.2:p.(Met982Thr)	NC_000014.8:g.23892910A>G	(Likely) benign	5 labs	7a661a8501
2:179597151 TTN A>C	2	179597151	179597151	A	C	TTN	c.16621+16T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597151A>C	(Likely) benign	3 labs	7a68dba275
14:20942744 PNP A>G	14	20942744	20942744	A	G	PNP	c.285+10A>G	NM_000270.4	NP_000261.2:p.?	NC_000014.8:g.20942744A>G	(Likely) benign	2 labs	7a78529ea2
X:74651359 ZDHHC15 TA>T	X	74651359	74651370	TA	T	ZDHHC15	c.380-5del	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74651370del	(Likely) benign	2 labs	7a80645768
7:107414419 SLC26A3 A>G	7	107414419	107414419	A	G	SLC26A3	c.1953T>C	NM_000111.3	NP_000102.1:p.(Leu651=)	NC_000007.13:g.107414419A>G	(Likely) benign	2 labs	7a8c234a8f
6:7565770 DSP C>T	6	7565770	7565770	C	T	DSP	c.939+17C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565770C>T	(Likely) benign	2 labs	7a8c6eeba2
12:103234271 PAH G>A	12	103234271	103234271	G	A	PAH	c.1222C>T	NM_000277.3	NP_000268.1:p.(Arg408Trp)	NC_000012.11:g.103234271G>A	(Likely) pathogenic	5 labs	7a9e494cfc
11:64572009 MEN1 G>A	11	64572009	64572009	G	A	MEN1	c.1630C>T	NM_130799.2	NP_570711.1:p.(Pro544Ser)	NC_000011.9:g.64572009G>A	VUS	2 labs	7ac039c749
12:103234177 PAH C>T	12	103234177	103234177	C	T	PAH	c.1315+1G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103234177C>T	(Likely) pathogenic	6 labs	7ac1122370
10:122649483 WDR11 A>G	10	122649483	122649483	A	G	WDR11	c.2305A>G	NM_018117.12	NP_060587.8:p.(Met769Val)	NC_000010.10:g.122649483A>G	VUS	3 labs	7ad02cb4a3
2:127821499 BIN1 T>C	2	127821499	127821499	T	C	BIN1	c.698+10A>G	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127821499T>C	(Likely) benign	2 labs	7ad322a002
7:2552881 LFNG A>AGATG	7	2552881	2552909	A	AGATG	LFNG	c.163_166dup	NM_001166355.2	NP_001159827.1:p.(Glu56GlyfsTer2)	NC_000007.13:g.2552906_2552909dup	(Likely) benign	3 labs	7ad47cf3ec
15:34536194 SLC12A6 G>A	15	34536194	34536194	G	A	SLC12A6	c.2023C>T	NM_133647.1	NP_598408.1:p.(Arg675Ter)	NC_000015.9:g.34536194G>A	(Likely) pathogenic	2 labs	7aff1773e3
3:71027087 FOXP1 G>C	3	71027087	71027087	G	C	FOXP1	c.1240C>G	NM_032682.6	NP_116071.2:p.(Leu414Val)	NC_000003.11:g.71027087G>C	(Likely) benign	2 labs	7adf49c174
3:37053487 MLH1 CTGTT>C	3	37053487	37053496	CTGTT	C	MLH1	c.589-9_589-6del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053493_37053496del	VUS	2 labs	7ae9b85c2d
1:158647631 SPTA1 T>A	1	158647631	158647631	T	A	SPTA1	c.813-7A>T	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158647631T>A	(Likely) benign	2 labs	7b03af2345
7:91713963 AKAP9 A>G	7	91713963	91713963	A	G	AKAP9	c.8656A>G	NM_005751.5	NP_005742.4:p.(Ile2886Val)	NC_000007.13:g.91713963A>G	(Likely) benign	2 labs	7b0a348698
2:219677818 CYP27A1 C>T	2	219677818	219677818	C	T	CYP27A1	c.1016C>T	NM_000784.4	NP_000775.1:p.(Thr339Met)	NC_000002.11:g.219677818C>T	(Likely) pathogenic	5 labs	7b0e262d8f
22:36708084 MYH9 C>T	22	36708084	36708084	C	T	MYH9	c.1728+10G>A	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36708084C>T	(Likely) benign	2 labs	7b170b3089
2:48010431 MSH6 C>T	2	48010431	48010431	C	T	MSH6	c.59C>T	NM_000179.3	NP_000170.1:p.(Ala20Val)	NC_000002.11:g.48010431C>T	(Likely) benign	3 labs	7b1c3b1faf
12:52163789 SCN8A G>A	12	52163789	52163789	G	A	SCN8A	c.3490+20G>A	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52163789G>A	(Likely) benign	3 labs	7b2c11fd7c
8:143996539 CYP11B2 T>C	8	143996539	143996539	T	C	CYP11B2	c.518A>G	NM_000498.3	NP_000489.3:p.(Lys173Arg)	NC_000008.10:g.143996539T>C	(Likely) benign	2 labs	7b38ad003b
6:167343141 RNASET2 G>A	6	167343141	167343141	G	A	RNASET2	c.706C>T	NM_003730.6	NP_003721.2:p.(Arg236Trp)	NC_000006.11:g.167343141G>A	(Likely) benign	3 labs	7b46962b20
19:55667607 TNNI3 G>A	19	55667607	55667607	G	A	TNNI3	c.244C>T	NM_000363.5	NP_000354.4:p.(Pro82Ser)	NC_000019.9:g.55667607G>A	(Likely) benign	5 labs	7b495f735a
2:69409737 ANTXR1 TCAA>T	2	69409737	69409746	TCAA	T	ANTXR1	c.1305_1307del	NM_032208.3	NP_115584.1:p.(Asn436del)	NC_000002.11:g.69409744_69409746del	VUS	2 labs	7b6926b426
12:32974352 PKP2 G>A	12	32974352	32974352	G	A	PKP2	c.2083C>T	NM_004572.4	NP_004563.2:p.(Arg695Cys)	NC_000012.11:g.32974352G>A	VUS	3 labs	7b6ee68ccd
2:157185923 NR4A2 T>C	2	157185923	157185923	T	C	NR4A2	c.776A>G	NM_006186.4	NP_006177.1:p.(Asn259Ser)	NC_000002.11:g.157185923T>C	VUS	2 labs	8bddc2f267
14:23891393 MYH7 TCAGCCGCTCATC>T	14	23891393	23891409	TCAGCCGCTCATC	T	MYH7	c.3229_3240del	NM_000257.4	NP_000248.2:p.(Asp1077_Leu1080del)	NC_000014.8:g.23891398_23891409del	VUS	2 labs	7b8763df22
4:6303561 WFS1 A>C	4	6303561	6303561	A	C	WFS1	c.2039A>C	NM_006005.3	NP_005996.2:p.(Glu680Ala)	NC_000004.11:g.6303561A>C	VUS	2 labs	7b960177fc
2:179413174 TTN C>T	2	179413174	179413174	C	T	TTN	c.93179G>A	NM_001267550.2	NP_001254479.2:p.(Arg31060His)	NC_000002.11:g.179413174C>T	VUS	4 labs	7b9d824ebf
15:43552684 TGM5 C>T	15	43552684	43552684	C	T	TGM5	c.104G>A	NM_201631.4	NP_963925.2:p.(Arg35Gln)	NC_000015.9:g.43552684C>T	(Likely) pathogenic	2 labs	7ba2ffa6ee
1:160209895 DCAF8 CTCCTCT>C	1	160209895	160209913	CTCCTCT	C	DCAF8	c.309_314del	NM_015726.4	NP_056541.2:p.(Glu111_Glu112del)	NC_000001.10:g.160209908_160209913del	(Likely) benign	2 labs	7bba8bc02b
17:41245278 BRCA1 AC>A	17	41245278	41245281	AC	A	BRCA1	c.2269del	NM_007294.4	NP_009225.1:p.(Val757PhefsTer8)	NC_000017.10:g.41245281del	(Likely) pathogenic	2 labs	7bbbb55f62
2:166246235 SCN2A C>T	2	166246235	166246235	C	T	SCN2A	c.5919C>T	NM_021007.3	NP_066287.2:p.(Pro1973=)	NC_000002.11:g.166246235C>T	(Likely) benign	3 labs	7bc851a984
2:179430445 TTN T>G	2	179430445	179430445	T	G	TTN	c.80414A>C	NM_001267550.2	NP_001254479.2:p.(Glu26805Ala)	NC_000002.11:g.179430445T>G	VUS	4 labs	7bc982cca5
6:108243120 SEC63 A>G	6	108243120	108243120	A	G	SEC63	c.340-7T>C	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243120A>G	(Likely) benign	2 labs	7bda26791d
15:85400192 ALPK3 C>T	15	85400192	85400192	C	T	ALPK3	c.2223C>T	NM_020778.5	NP_065829.4:p.(Leu741=)	NC_000015.9:g.85400192C>T	(Likely) benign	4 labs	7bdb9cbc1b
2:179452410 TTN C>T	2	179452410	179452410	C	T	TTN	c.63626G>A	NM_001267550.2	NP_001254479.2:p.(Arg21209Gln)	NC_000002.11:g.179452410C>T	VUS	3 labs	7bdf13583f
20:62126299 EEF1A2 C>T	20	62126299	62126299	C	T	EEF1A2	c.480G>A	NM_001958.5	NP_001949.1:p.(Pro160=)	NC_000020.10:g.62126299C>T	(Likely) benign	2 labs	7be13817eb
2:179447132 TTN C>T	2	179447132	179447132	C	T	TTN	c.66051G>A	NM_001267550.2	NP_001254479.2:p.(Val22017=)	NC_000002.11:g.179447132C>T	(Likely) benign	3 labs	7be8244ec1
3:52485829 TNNC1 C>T	3	52485829	52485829	C	T	TNNC1	c.248G>A	NM_003280.3	NP_003271.1:p.(Arg83Gln)	NC_000003.11:g.52485829C>T	VUS	2 labs	7bfa296773
2:179605417 TTN G>A	2	179605417	179605417	G	A	TTN	c.12543C>T	NM_001267550.2	NP_001254479.2:p.(Thr4181=)	NC_000002.11:g.179605417G>A	(Likely) benign	2 labs	7c03739890
X:139587212 SOX3 C>T	X	139587212	139587212	C	T	SOX3	c.14G>A	NM_005634.3	NP_005625.2:p.(Arg5Gln)	NC_000023.10:g.139587212C>T	(Likely) benign	4 labs	7c0a49edbf
15:48780353 FBN1 G>A	15	48780353	48780353	G	A	FBN1	c.3294C>T	NM_000138.5	NP_000129.3:p.(Asp1098=)	NC_000015.9:g.48780353G>A	(Likely) benign	5 labs	7c0c39d338
1:116268178 CASQ2 GAAAAA>G	1	116268178	116268201	GAAAAA	G	CASQ2	c.738-9_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268197_116268201del	(Likely) benign	2 labs	7c0e258da4
2:48033371 MSH6 G>A	2	48033371	48033371	G	A	MSH6	c.3675G>A	NM_000179.3	NP_000170.1:p.(Thr1225=)	NC_000002.11:g.48033371G>A	(Likely) benign	2 labs	7c17dce374
19:16596074 CALR3 A>G	19	16596074	16596074	A	G	CALR3	c.398-6T>C	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16596074A>G	(Likely) benign	5 labs	7c184ebfb3
4:100542401 MTTP G>A	4	100542401	100542401	G	A	MTTP	c.2513+13G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542401G>A	(Likely) benign	2 labs	7c2e7ccea9
13:32907375 BRCA2 CAAAT>C	13	32907375	32907381	CAAAT	C	BRCA2	c.1763_1766del	NM_000059.4	NP_000050.3:p.(Asn588SerfsTer25)	NC_000013.10:g.32907378_32907381del	(Likely) pathogenic	3 labs	7c34797928
6:170871046 TBP A>G	6	170871046	170871046	A	G	TBP	c.222A>G	NM_003194.5	NP_003185.1:p.(Gln74=)	NC_000006.11:g.170871046A>G	(Likely) benign	2 labs	7c34b0630a
7:73482987 ELN G>A	7	73482987	73482987	G	A	ELN	c.2318G>A	NM_001278939.2	NP_001265868.1:p.(Gly773Asp)	NC_000007.13:g.73482987G>A	(Likely) benign	5 labs	7c3de157a3
4:6303646 WFS1 C>T	4	6303646	6303646	C	T	WFS1	c.2124C>T	NM_006005.3	NP_005996.2:p.(Arg708=)	NC_000004.11:g.6303646C>T	(Likely) benign	4 labs	7c412b383f
6:42975149 PPP2R5D T>C	6	42975149	42975149	T	C	PPP2R5D	c.634-3T>C	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42975149T>C	(Likely) benign	2 labs	7c47ccd5cb
1:237777882 RYR2 T>C	1	237777882	237777882	T	C	RYR2	c.5454T>C	NM_001035.3	NP_001026.2:p.(Phe1818=)	NC_000001.10:g.237777882T>C	(Likely) benign	2 labs	7c4b2a0fcd
13:113801737 F10 C>T	13	113801737	113801737	C	T	F10	c.792C>T	NM_000504.4	NP_000495.1:p.(Thr264=)	NC_000013.10:g.113801737C>T	(Likely) benign	2 labs	7c64bf9d9f
X:153171871 AVPR2 G>A	X	153171871	153171871	G	A	AVPR2	c.910+1G>A	NM_000054.6	NP_000045.1:p.?	NC_000023.10:g.153171871G>A	(Likely) pathogenic	2 labs	7c69aa1177
19:15297709 NOTCH3 A>T	19	15297709	15297709	A	T	NOTCH3	c.1931T>A	NM_000435.3	NP_000426.2:p.(Val644Asp)	NC_000019.9:g.15297709A>T	VUS	4 labs	7c6e47d797
15:77176158 SCAPER T>C	15	77176158	77176158	T	C	SCAPER	c.-457A>G	NM_001353010.2	NP_001339939.1:p.?	NC_000015.9:g.77176158T>C	(Likely) benign	2 labs	7c7a220650
5:90001368 ADGRV1 T>G	5	90001368	90001368	T	G	ADGRV1	c.8538T>G	NM_032119.4	NP_115495.3:p.(Leu2846=)	NC_000005.9:g.90001368T>G	(Likely) benign	2 labs	7c7e12e620
2:179431280 TTN A>G	2	179431280	179431280	A	G	TTN	c.79579T>C	NM_001267550.2	NP_001254479.2:p.(Cys26527Arg)	NC_000002.11:g.179431280A>G	VUS	2 labs	7c837bd8a9
6:29640855 ZFP57 C>G	6	29640855	29640855	C	G	ZFP57	c.1033G>C	NM_001109809.5	NP_001103279.2:p.(Ala345Pro)	NC_000006.11:g.29640855C>G	(Likely) benign	2 labs	7c969d00be
2:179590708 TTN C>T	2	179590708	179590708	C	T	TTN	c.20341G>A	NM_001267550.2	NP_001254479.2:p.(Glu6781Lys)	NC_000002.11:g.179590708C>T	(Likely) benign	6 labs	7ca73640bf
14:23862254 MYH6 G>A	14	23862254	23862254	G	A	MYH6	c.3118C>T	NM_002471.4	NP_002462.2:p.(Leu1040=)	NC_000014.8:g.23862254G>A	(Likely) benign	6 labs	7cb0bfa384
2:216300482 FN1 T>A	2	216300482	216300482	T	A	FN1	c.44A>T	NM_212482.4	NP_997647.2:p.(Gln15Leu)	NC_000002.11:g.216300482T>A	(Likely) benign	2 labs	7cb8cd821a
17:8135414 CTC1 C>T	17	8135414	8135414	C	T	CTC1	c.2192G>A	NM_025099.6	NP_079375.3:p.(Arg731Gln)	NC_000017.10:g.8135414C>T	VUS	3 labs	7cca8bf19e
2:15359018 NBAS C>T	2	15359018	15359018	C	T	NBAS	c.6311G>A	NM_015909.4	NP_056993.2:p.(Arg2104Gln)	NC_000002.11:g.15359018C>T	VUS	2 labs	7ccea5700b
1:115576023 TSHB A>G	1	115576023	115576023	A	G	TSHB	c.40A>G	NM_000549.5	NP_000540.2:p.(Thr14Ala)	NC_000001.10:g.115576023A>G	(Likely) benign	2 labs	7cd2b3535a
2:21242741 APOB C>T	2	21242741	21242741	C	T	APOB	c.2853G>A	NM_000384.3	NP_000375.3:p.(Glu951=)	NC_000002.11:g.21242741C>T	(Likely) benign	2 labs	7ce3f3df5e
9:137707834 COL5A1 G>A	9	137707834	137707834	G	A	COL5A1	c.4122G>A	NM_000093.5	NP_000084.3:p.(Thr1374=)	NC_000009.11:g.137707834G>A	(Likely) benign	2 labs	7cf2c37a98
12:103246714 PAH G>A	12	103246714	103246714	G	A	PAH	c.721C>T	NM_000277.3	NP_000268.1:p.(Arg241Cys)	NC_000012.11:g.103246714G>A	(Likely) pathogenic	3 labs	7cf4c677e2
1:201334731 TNNT2 C>T	1	201334731	201334731	C	T	TNNT2	c.294+7G>A	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201334731C>T	(Likely) benign	5 labs	7d04773065
X:53439218 SMC1A G>A	X	53439218	53439218	G	A	SMC1A	c.789-15C>T	NM_001281463.1	NP_001268392.1:p.?	NC_000023.10:g.53439218G>A	(Likely) benign	2 labs	7d06abe339
19:50735340 MYH14 C>T	19	50735340	50735340	C	T	MYH14	c.1114+13C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50735340C>T	(Likely) benign	2 labs	7d0838f66e
1:94510272 ABCA4 T>C	1	94510272	94510272	T	C	ABCA4	c.2947A>G	NM_000350.3	NP_000341.2:p.(Thr983Ala)	NC_000001.10:g.94510272T>C	(Likely) pathogenic	2 labs	7d09d8050f
1:165737436 TMCO1 ACT>A	1	165737436	165737440	ACT	A	TMCO1	c.139_140del	NM_019026.6	NP_061899.3:p.(Ser47Ter)	NC_000001.10:g.165737439_165737440del	(Likely) pathogenic	2 labs	7d0c2e8103
22:50962640 SCO2 G>A	22	50962640	50962640	G	A	SCO2	c.201C>T	NM_001169109.2	NP_001162580.1:p.(Phe67=)	NC_000022.10:g.50962640G>A	(Likely) benign	4 labs	7d11f7d843
13:32944571 BRCA2 G>A	13	32944571	32944571	G	A	BRCA2	c.8364G>A	NM_000059.4	NP_000050.3:p.(Trp2788Ter)	NC_000013.10:g.32944571G>A	(Likely) pathogenic	2 labs	7d13c2f948
2:21228879 APOB C>T	2	21228879	21228879	C	T	APOB	c.10861G>A	NM_000384.3	NP_000375.3:p.(Ala3621Thr)	NC_000002.11:g.21228879C>T	VUS	2 labs	7d1e61544d
8:143958093 CYP11B1 C>G	8	143958093	143958093	C	G	CYP11B1	c.799+5G>C	NM_000497.4	NP_000488.3:p.?	NC_000008.10:g.143958093C>G	(Likely) pathogenic	2 labs	7d24b9dff7
X:152018832 NSDHL T>G	X	152018832	152018832	T	G	NSDHL	c.132T>G	NM_001129765.2	NP_001123237.1:p.(Gly44=)	NC_000023.10:g.152018832T>G	(Likely) benign	2 labs	7d27d28cf9
17:73518276 TSEN54 G>A	17	73518276	73518276	G	A	TSEN54	c.1114G>A	NM_207346.3	NP_997229.2:p.(Val372Met)	NC_000017.10:g.73518276G>A	VUS	3 labs	7d2b97ff54
8:19813385 LPL G>A	8	19813385	19813385	G	A	LPL	c.809G>A	NM_000237.3	NP_000228.1:p.(Arg270His)	NC_000008.10:g.19813385G>A	(Likely) pathogenic	3 labs	7d2ca2bc25
19:11216172 LDLR G>A	19	11216172	11216172	G	A	LDLR	c.590G>A	NM_000527.5	NP_000518.1:p.(Cys197Tyr)	NC_000019.9:g.11216172G>A	(Likely) pathogenic	2 labs	7d49069da5
12:48376291 COL2A1 G>A	12	48376291	48376291	G	A	COL2A1	c.2295C>T	NM_001844.5	NP_001835.3:p.(Gly765=)	NC_000012.11:g.48376291G>A	(Likely) benign	4 labs	7d4b3703ff
10:121431808 BAG3 C>G	10	121431808	121431808	C	G	BAG3	c.549C>G	NM_004281.4	NP_004272.2:p.(Ser183=)	NC_000010.10:g.121431808C>G	(Likely) benign	5 labs	7d50644412
1:237619971 RYR2 T>C	1	237619971	237619971	T	C	RYR2	c.1548T>C	NM_001035.3	NP_001026.2:p.(Asp516=)	NC_000001.10:g.237619971T>C	(Likely) benign	5 labs	7d50d37d83
2:179554580 TTN G>A	2	179554580	179554580	G	A	TTN	c.31806C>T	NM_001267550.2	NP_001254479.2:p.(Pro10602=)	NC_000002.11:g.179554580G>A	(Likely) benign	5 labs	7d52ecacfe
17:39913908 JUP C>A	17	39913908	39913908	C	A	JUP	c.1902G>T	NM_002230.4	NP_002221.1:p.(Leu634=)	NC_000017.10:g.39913908C>A	(Likely) benign	2 labs	7d5302c23b
14:81422178 TSHR C>A	14	81422178	81422178	C	A	TSHR	c.154C>A	NM_000369.5	NP_000360.2:p.(Pro52Thr)	NC_000014.8:g.81422178C>A	(Likely) benign	2 labs	7d530c4af6
6:7583946 DSP C>T	6	7583946	7583946	C	T	DSP	c.6451C>T	NM_004415.4	NP_004406.2:p.(Arg2151Trp)	NC_000006.11:g.7583946C>T	VUS	2 labs	7d5c8463af
17:78356830 RNF213 G>T	17	78356830	78356830	G	T	RNF213	c.14030G>T	NM_001256071.3	NP_001243000.2:p.(Trp4677Leu)	NC_000017.10:g.78356830G>T	(Likely) benign	2 labs	7d5f386fea
2:44079765 ABCG8 C>T	2	44079765	44079765	C	T	ABCG8	c.722C>T	NM_022437.3	NP_071882.1:p.(Ser241Phe)	NC_000002.11:g.44079765C>T	VUS	2 labs	7d5fb79dfb
14:23858697 MYH6 C>G	14	23858697	23858697	C	G	MYH6	c.3883G>C	NM_002471.4	NP_002462.2:p.(Glu1295Gln)	NC_000014.8:g.23858697C>G	(Likely) benign	6 labs	7d8e39d0ea
13:20797589 GJB6 C>T	13	20797589	20797589	C	T	GJB6	c.31G>A	NM_006783.5	NP_006774.2:p.(Gly11Arg)	NC_000013.10:g.20797589C>T	(Likely) pathogenic	2 labs	7da1feeefb
11:75277757 SERPINH1 C>G	11	75277757	75277757	C	G	SERPINH1	c.363C>G	NM_001207014.3	NP_001193943.1:p.(Ser121=)	NC_000011.9:g.75277757C>G	(Likely) benign	2 labs	7dafcd89fb
17:41197778 BRCA1 A>G	17	41197778	41197778	A	G	BRCA1	c.5509T>C	NM_007294.4	NP_009225.1:p.(Trp1837Arg)	NC_000017.10:g.41197778A>G	(Likely) pathogenic	3 labs	7dc33faacd
X:39911657 BCOR C>A	X	39911657	39911657	C	A	BCOR	c.4977-4G>T	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39911657C>A	(Likely) benign	3 labs	7dc677f071
X:32381048 DMD G>A	X	32381048	32381048	G	A	DMD	c.5182C>T	NM_004006.3	NP_003997.2:p.(Arg1728Cys)	NC_000023.10:g.32381048G>A	(Likely) benign	4 labs	7dd256d498
X:76939574 ATRX G>A	X	76939574	76939574	G	A	ATRX	c.1174C>T	NM_000489.6	NP_000480.3:p.(Leu392Phe)	NC_000023.10:g.76939574G>A	VUS	2 labs	7dd5520005
5:178416063 GRM6 G>A	5	178416063	178416063	G	A	GRM6	c.1227C>T	NM_000843.4	NP_000834.2:p.(Tyr409=)	NC_000005.9:g.178416063G>A	(Likely) benign	2 labs	7de4f3bba0
6:112463419 LAMA4 C>T	6	112463419	112463419	C	T	LAMA4	c.2569G>A	NM_001105206.3	NP_001098676.2:p.(Ala857Thr)	NC_000006.11:g.112463419C>T	(Likely) benign	3 labs	7de5f85b5c
2:182403851 CERKL G>A	2	182403851	182403851	G	A	CERKL	c.1584C>T	NM_001030311.3	NP_001025482.1:p.(Asp528=)	NC_000002.11:g.182403851G>A	(Likely) benign	2 labs	7de7f86d4d
2:179560063 TTN C>A	2	179560063	179560063	C	A	TTN	c.31270+12G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179560063C>A	(Likely) benign	4 labs	7debe9c760
17:7414643 POLR2A G>C	17	7414643	7414643	G	C	POLR2A	c.3918+5G>C	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7414643G>C	(Likely) benign	2 labs	7df07f5659
16:3777864 CREBBP A>G	16	3777864	3777864	A	G	CREBBP	c.7184T>C	NM_004380.3	NP_004371.2:p.(Ile2395Thr)	NC_000016.9:g.3777864A>G	(Likely) benign	2 labs	7e1392e109
16:23224416 SCNN1G G>A	16	23224416	23224416	G	A	SCNN1G	c.1432-7G>A	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23224416G>A	(Likely) benign	2 labs	7e17cc586d
17:63526206 AXIN2 T>A	17	63526206	63526206	T	A	AXIN2	c.2420A>T	NM_004655.4	NP_004646.3:p.(Lys807Ile)	NC_000017.10:g.63526206T>A	VUS	2 labs	7e1a1dabcd
19:11322772 DOCK6 G>A	19	11322772	11322772	G	A	DOCK6	c.4547C>T	NM_020812.4	NP_065863.2:p.(Thr1516Met)	NC_000019.9:g.11322772G>A	(Likely) benign	2 labs	7e22e7f46a
2:238253437 COL6A3 G>C	2	238253437	238253437	G	C	COL6A3	c.7224C>G	NM_004369.4	NP_004360.2:p.(Asp2408Glu)	NC_000002.11:g.238253437G>C	VUS	2 labs	7e25b4c21e
3:38639416 SCN5A C>T	3	38639416	38639416	C	T	SCN5A	c.2066G>A	NM_001099404.2	NP_001092874.1:p.(Arg689His)	NC_000003.11:g.38639416C>T	VUS	2 labs	7e345aae67
8:10474042 RP1L1 T>G	8	10474042	10474042	T	G	RP1L1	c.665A>C	NM_178857.6	NP_849188.4:p.(His222Pro)	NC_000008.10:g.10474042T>G	(Likely) benign	2 labs	7e38acd012
18:29122799 DSG2 G>A	18	29122799	29122799	G	A	DSG2	c.2318G>A	NM_001943.5	NP_001934.2:p.(Arg773Lys)	NC_000018.9:g.29122799G>A	(Likely) benign	5 labs	7e39791bc1
18:48573437 SMAD4 G>A	18	48573437	48573437	G	A	SMAD4	c.21G>A	NM_005359.6	NP_005350.1:p.(Thr7=)	NC_000018.9:g.48573437G>A	(Likely) benign	3 labs	7e39a266e9
2:179442717 TTN A>G	2	179442717	179442717	A	G	TTN	c.68525T>C	NM_001267550.2	NP_001254479.2:p.(Ile22842Thr)	NC_000002.11:g.179442717A>G	VUS	2 labs	7e3a296f5b
17:41256121 BRCA1 G>A	17	41256121	41256121	G	A	BRCA1	c.441+18C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256121G>A	(Likely) benign	6 labs	7e46d09647
5:38481770 LIFR T>C	5	38481770	38481770	T	C	LIFR	c.3221A>G	NM_002310.6	NP_002301.1:p.(Asp1074Gly)	NC_000005.9:g.38481770T>C	VUS	2 labs	7e56645c65
X:152845611 ATP2B3 C>T	X	152845611	152845611	C	T	ATP2B3	c.3518C>T	NM_001001344.2	NP_001001344.1:p.(Ala1173Val)	NC_000023.10:g.152845611C>T	(Likely) benign	4 labs	7e570d3e5b
10:75832580 VCL G>A	10	75832580	75832580	G	A	VCL	c.592G>A	NM_014000.3	NP_054706.1:p.(Val198Met)	NC_000010.10:g.75832580G>A	VUS	2 labs	7e79977797
6:56417545 DST T>C	6	56417545	56417545	T	C	DST	c.9688A>G	NM_001144769.5	NP_001138241.1:p.(Thr3230Ala)	NC_000006.11:g.56417545T>C	(Likely) benign	2 labs	7e7b67f1e2
16:4945399 PPL TCTC>T	16	4945399	4945404	TCTC	T	PPL	c.1102_1104del	NM_002705.5	NP_002696.4:p.(Glu368del)	NC_000016.9:g.4945402_4945404del	(Likely) benign	2 labs	7e8d6fe0f7
15:85407828 ALPK3 A>C	15	85407828	85407828	A	C	ALPK3	c.4655A>C	NM_020778.5	NP_065829.4:p.(Lys1552Thr)	NC_000015.9:g.85407828A>C	VUS	2 labs	7e98012ffa
11:121032978 TECTA G>A	11	121032978	121032978	G	A	TECTA	c.5171G>A	NM_005422.4	NP_005413.2:p.(Ser1724Asn)	NC_000011.9:g.121032978G>A	(Likely) benign	2 labs	7e983ccf6a
16:72821593 ZFHX3 AGCCGCCGCC>A	16	72821593	72821617	AGCCGCCGCC	A	ZFHX3	c.10573_10581del	NM_006885.4	NP_008816.3:p.(Gly3525_Gly3527del)	NC_000016.9:g.72821609_72821617del	(Likely) benign	2 labs	7e9e13a1bc
2:179418418 TTN C>A	2	179418418	179418418	C	A	TTN	c.89314G>T	NM_001267550.2	NP_001254479.2:p.(Glu29772Ter)	NC_000002.11:g.179418418C>A	(Likely) pathogenic	5 labs	7ea53da092
13:32954050 BRCA2 G>A	13	32954050	32954050	G	A	BRCA2	c.9117G>A	NM_000059.4	NP_000050.3:p.(Pro3039=)	NC_000013.10:g.32954050G>A	(Likely) pathogenic	6 labs	7ea730dea7
12:133263901 POLE T>A	12	133263901	133263901	T	A	POLE	c.1A>T	NM_006231.4	NP_006222.2:p.(Met1?)	NC_000012.11:g.133263901T>A	VUS	3 labs	909f77253a
2:179645962 TTN C>T	2	179645962	179645962	C	T	TTN	c.3409G>A	NM_001267550.2	NP_001254479.2:p.(Gly1137Ser)	NC_000002.11:g.179645962C>T	VUS	3 labs	7ef101c37d
4:6293696 WFS1 C>G	4	6293696	6293696	C	G	WFS1	c.684C>G	NM_006005.3	NP_005996.2:p.(Arg228=)	NC_000004.11:g.6293696C>G	(Likely) benign	3 labs	7efbd324c8
17:5462417 NLRP1 C>A	17	5462417	5462417	C	A	NLRP1	c.1599G>T	NM_033004.4	NP_127497.1:p.(Gln533His)	NC_000017.10:g.5462417C>A	(Likely) benign	3 labs	7efc16d838
1:215901511 USH2A G>A	1	215901511	215901511	G	A	USH2A	c.11927C>T	NM_206933.4	NP_996816.3:p.(Thr3976Met)	NC_000001.10:g.215901511G>A	VUS	4 labs	7f1900555f
11:108186750 ATM T>C	11	108186750	108186750	T	C	ATM	c.6108T>C	NM_001351834.2	NP_001338763.1:p.(Tyr2036=)	NC_000011.9:g.108186750T>C	(Likely) benign	3 labs	7f19927573
7:50597052 DDC A>G	7	50597052	50597052	A	G	DDC	c.436-12T>C	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50597052A>G	(Likely) benign	2 labs	7f221e0ddf
17:41276044 BRCA1 ACT>A	17	41276044	41276048	ACT	A	BRCA1	c.68_69del	NM_007294.4	NP_009225.1:p.(Glu23ValfsTer17)	NC_000017.10:g.41276047_41276048del	(Likely) pathogenic	6 labs	7f3537ad6a
2:179578703 TTN C>T	2	179578703	179578703	C	T	TTN	c.26682G>A	NM_001267550.2	NP_001254479.2:p.(Pro8894=)	NC_000002.11:g.179578703C>T	(Likely) benign	6 labs	7f40a393f3
1:20964328 PINK1 A>G	1	20964328	20964328	A	G	PINK1	c.388-7A>G	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20964328A>G	(Likely) benign	3 labs	7f47891b54
2:220285375 DES G>A	2	220285375	220285375	G	A	DES	c.894G>A	NM_001927.4	NP_001918.3:p.(Ser298=)	NC_000002.11:g.220285375G>A	(Likely) benign	3 labs	7f4c584331
11:47359047 MYBPC3 C>T	11	47359047	47359047	C	T	MYBPC3	c.2497G>A	NM_000256.3	NP_000247.2:p.(Ala833Thr)	NC_000011.9:g.47359047C>T	(Likely) benign	4 labs	7f55ef29ec
11:102988504 DYNC2H1 A>T	11	102988504	102988504	A	T	DYNC2H1	c.911A>T	NM_001080463.2	NP_001073932.1:p.(Gln304Leu)	NC_000011.9:g.102988504A>T	(Likely) benign	2 labs	7f5bc6c498
11:108236051 ATM G>A	11	108236051	108236051	G	A	ATM	c.8988-1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108236051G>A	(Likely) pathogenic	5 labs	7f5d565d1d
7:104717411 KMT2E G>A	7	104717411	104717411	G	A	KMT2E	c.770G>A	NM_182931.3	NP_891847.1:p.(Gly257Asp)	NC_000007.13:g.104717411G>A	(Likely) benign	2 labs	7f642ffa27
1:207940421 CD46 T>G	1	207940421	207940421	T	G	CD46	c.737T>G	NM_002389.4	NP_002380.3:p.(Phe246Cys)	NC_000001.10:g.207940421T>G	VUS	2 labs	7f68caf1d5
17:39925852 JUP C>T	17	39925852	39925852	C	T	JUP	c.286G>A	NM_002230.4	NP_002221.1:p.(Glu96Lys)	NC_000017.10:g.39925852C>T	VUS	2 labs	7f6dbeb6b3
16:89167140 ACSF3 G>C	16	89167140	89167140	G	C	ACSF3	c.51G>C	NM_001243279.3	NP_001230208.1:p.(Ala17=)	NC_000016.9:g.89167140G>C	(Likely) benign	2 labs	7f70b7411a
X:31496430 DMD C>A	X	31496430	31496430	C	A	DMD	c.8730G>T	NM_004006.3	NP_003997.2:p.(Glu2910Asp)	NC_000023.10:g.31496430C>A	VUS	2 labs	7f74113791
19:33354992 SLC7A9 A>G	19	33354992	33354992	A	G	SLC7A9	c.478+10T>C	NM_001243036.2	NP_001229965.1:p.?	NC_000019.9:g.33354992A>G	(Likely) benign	2 labs	7f7462b0e6
4:3138013 HTT G>A	4	3138013	3138013	G	A	HTT	c.2764G>A	NM_002111.8	NP_002102.4:p.(Asp922Asn)	NC_000004.11:g.3138013G>A	VUS	2 labs	91606b88de
8:144995514 PLEC G>A	8	144995514	144995514	G	A	PLEC	c.8886C>T	NM_201380.4	NP_958782.1:p.(Pro2962=)	NC_000008.10:g.144995514G>A	(Likely) benign	2 labs	7f78b67831
6:112463412 LAMA4 G>A	6	112463412	112463412	G	A	LAMA4	c.2576C>T	NM_001105206.3	NP_001098676.2:p.(Thr859Met)	NC_000006.11:g.112463412G>A	VUS	3 labs	7f7e29e760
12:21970120 ABCC9 C>T	12	21970120	21970120	C	T	ABCC9	c.3892+1G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21970120C>T	VUS	2 labs	7f7f4f812f
19:11230881 LDLR T>C	19	11230881	11230881	T	C	LDLR	c.1959T>C	NM_000527.5	NP_000518.1:p.(Val653=)	NC_000019.9:g.11230881T>C	(Likely) benign	2 labs	7f80bf6617
6:33408546 SYNGAP1 C>T	6	33408546	33408546	C	T	SYNGAP1	c.1717C>T	NM_006772.3	NP_006763.2:p.(Arg573Trp)	NC_000006.11:g.33408546C>T	(Likely) pathogenic	2 labs	7f8989cf8a
7:138453892 ATP6V0A4 GAA>G	7	138453892	138453908	GAA	G	ATP6V0A4	c.196+24_196+25del	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138453907_138453908del	(Likely) benign	2 labs	7f8a47a7c7
9:138657053 KCNT1 T>G	9	138657053	138657053	T	G	KCNT1	c.1200+12T>G	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138657053T>G	(Likely) benign	3 labs	7f8bf84828
5:131705516 SLC22A5 G>A	5	131705516	131705516	G	A	SLC22A5	c.-149G>A	NM_003060.4	NP_003051.1:p.?	NC_000005.9:g.131705516G>A	(Likely) pathogenic	3 labs	7f9075d5e4
13:32945238 BRCA2 G>T	13	32945238	32945238	G	T	BRCA2	c.8632+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32945238G>T	(Likely) pathogenic	3 labs	7fa389f600
3:37050399 MLH1 A>G	3	37050399	37050399	A	G	MLH1	c.545+3A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37050399A>G	(Likely) pathogenic	3 labs	7fa6110bdd
2:179423313 TTN C>CT	2	179423313	179423314	C	CT	TTN	c.86872dup	NM_001267550.2	NP_001254479.2:p.(Ser28958LysfsTer10)	NC_000002.11:g.179423314dup	(Likely) pathogenic	2 labs	7fae1870fa
19:10659583 ATG4D A>G	19	10659583	10659583	A	G	ATG4D	c.650A>G	NM_001281504.2	NP_001268433.1:p.(Tyr217Cys)	NC_000019.9:g.10659583A>G	VUS	2 labs	7fb2339697
2:179494977 TTN G>A	2	179494977	179494977	G	A	TTN	c.44272C>T	NM_001267550.2	NP_001254479.2:p.(Arg14758Ter)	NC_000002.11:g.179494977G>A	(Likely) pathogenic	3 labs	7fc795659e
18:21134743 NPC1 G>A	18	21134743	21134743	G	A	NPC1	c.1532C>T	NM_000271.5	NP_000262.2:p.(Thr511Met)	NC_000018.9:g.21134743G>A	(Likely) benign	2 labs	7fd2a6d2f8
X:153171163 AVPR2 G>A	X	153171163	153171163	G	A	AVPR2	c.203G>A	NM_000054.6	NP_000045.1:p.(Arg68Gln)	NC_000023.10:g.153171163G>A	(Likely) benign	2 labs	7fd82d0e0c
19:11347190 DOCK6 G>A	19	11347190	11347190	G	A	DOCK6	c.2224C>T	NM_020812.4	NP_065863.2:p.(Arg742Trp)	NC_000019.9:g.11347190G>A	VUS	2 labs	7fdb7cbe20
2:179582537 TTN G>T	2	179582537	179582537	G	T	TTN	c.25064C>A	NM_001267550.2	NP_001254479.2:p.(Ala8355Glu)	NC_000002.11:g.179582537G>T	(Likely) benign	2 labs	7fef8c47e2
17:33428058 RAD51D G>A	17	33428058	33428058	G	A	RAD51D	c.904-3C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33428058G>A	(Likely) benign	4 labs	7ff2c55a30
X:153581714 FLNA G>A	X	153581714	153581714	G	A	FLNA	c.5972C>T	NM_001110556.2	NP_001104026.1:p.(Ser1991Leu)	NC_000023.10:g.153581714G>A	(Likely) benign	5 labs	7ffe62ef6b
15:51828563 DMXL2 T>G	15	51828563	51828563	T	G	DMXL2	c.2114A>C	NM_001174116.3	NP_001167587.1:p.(Gln705Pro)	NC_000015.9:g.51828563T>G	VUS	2 labs	8005a65fb0
17:19564634 ALDH3A2 C>G	17	19564634	19564634	C	G	ALDH3A2	c.940+53C>G	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19564634C>G	(Likely) benign	2 labs	800fa0267d
10:104816683 CNNM2 C>T	10	104816683	104816683	C	T	CNNM2	c.2035C>T	NM_017649.5	NP_060119.3:p.(Arg679Cys)	NC_000010.10:g.104816683C>T	VUS	2 labs	8016acb7ec
2:47641559 MSH2 TAAAAAAAAAAAAA>T	2	47641559	47641586	TAAAAAAAAAAAAA	T	MSH2	c.942+17_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641574_47641586del	(Likely) benign	2 labs	801a53c703
7:91707197 AKAP9 C>T	7	91707197	91707197	C	T	AKAP9	c.6945+8C>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91707197C>T	(Likely) benign	3 labs	801be3633e
19:50365718 PNKP A>G	19	50365718	50365718	A	G	PNKP	c.939T>C	NM_007254.4	NP_009185.2:p.(Phe313=)	NC_000019.9:g.50365718A>G	(Likely) benign	3 labs	8023a1c458
6:161990401 PRKN G>A	6	161990401	161990401	G	A	PRKN	c.919C>T	NM_004562.3	NP_004553.2:p.(Leu307=)	NC_000006.11:g.161990401G>A	(Likely) benign	3 labs	8023df4c6b
1:235914602 LYST G>A	1	235914602	235914602	G	A	LYST	c.7688C>T	NM_000081.4	NP_000072.2:p.(Thr2563Ile)	NC_000001.10:g.235914602G>A	VUS	2 labs	8030c4754f
5:89938434 ADGRV1 G>T	5	89938434	89938434	G	T	ADGRV1	c.2241-19G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938434G>T	(Likely) benign	2 labs	8044986c6f
12:7362713 PEX5 G>A	12	7362713	7362713	G	A	PEX5	c.1814G>A	NM_001131025.2	NP_001124497.1:p.(Ser605Asn)	NC_000012.11:g.7362713G>A	VUS	2 labs	804595924e
4:995919 IDUA G>C	4	995919	995919	G	C	IDUA	c.942G>C	NM_000203.5	NP_000194.2:p.(Ala314=)	NC_000004.11:g.995919G>C	(Likely) benign	4 labs	805564db2c
17:41246748 BRCA1 GAA>G	17	41246748	41246751	GAA	G	BRCA1	c.798_799del	NM_007294.4	NP_009225.1:p.(Ser267LysfsTer19)	NC_000017.10:g.41246750_41246751del	(Likely) pathogenic	2 labs	805b41a36e
13:111119396 COL4A2 G>C	13	111119396	111119396	G	C	COL4A2	c.2048G>C	NM_001846.4	NP_001837.2:p.(Gly683Ala)	NC_000013.10:g.111119396G>C	(Likely) benign	3 labs	805c56d93a
15:73615225 HCN4 C>T	15	73615225	73615225	C	T	HCN4	c.3209G>A	NM_005477.3	NP_005468.1:p.(Gly1070Asp)	NC_000015.9:g.73615225C>T	VUS	2 labs	805d6ca34e
4:3148624 HTT G>C	4	3148624	3148624	G	C	HTT	c.3250G>C	NM_002111.8	NP_002102.4:p.(Asp1084His)	NC_000004.11:g.3148624G>C	VUS	3 labs	8060fe6886
9:141014778 CACNA1B G>A	9	141014778	141014778	G	A	CACNA1B	c.6192G>A	NM_000718.4	NP_000709.1:p.(Gln2064=)	NC_000009.11:g.141014778G>A	(Likely) benign	2 labs	807f1f50e8
17:17696546 RAI1 C>T	17	17696546	17696546	C	T	RAI1	c.284C>T	NM_030665.4	NP_109590.3:p.(Pro95Leu)	NC_000017.10:g.17696546C>T	VUS	2 labs	8088a02545
17:44248890 KANSL1 T>C	17	44248890	44248890	T	C	KANSL1	c.620A>G	NM_001193466.2	NP_001180395.1:p.(Asn207Ser)	NC_000017.10:g.44248890T>C	(Likely) benign	2 labs	808a8db3db
14:23873940 MYH6 C>T	14	23873940	23873940	C	T	MYH6	c.622G>A	NM_002471.4	NP_002462.2:p.(Asp208Asn)	NC_000014.8:g.23873940C>T	(Likely) benign	6 labs	8099343e1a
17:41226413 BRCA1 T>TGG	17	41226413	41226415	T	TGG	BRCA1	c.4609_4610insCC	NM_007294.4	NP_009225.1:p.(Gln1537ProfsTer12)	NC_000017.10:g.41226414_41226415insGG	(Likely) pathogenic	2 labs	809c18e077
17:42992715 GFAP G>A	17	42992715	42992715	G	A	GFAP	c.140C>T	NM_002055.5	NP_002046.1:p.(Pro47Leu)	NC_000017.10:g.42992715G>A	(Likely) benign	2 labs	809cb0dcb0
6:161807855 PRKN C>G	6	161807855	161807855	C	G	PRKN	c.1138G>C	NM_004562.3	NP_004553.2:p.(Val380Leu)	NC_000006.11:g.161807855C>G	(Likely) benign	3 labs	80a2dfb498
7:138455988 ATP6V0A4 A>G	7	138455988	138455988	A	G	ATP6V0A4	c.5T>C	NM_020632.3	NP_065683.2:p.(Val2Ala)	NC_000007.13:g.138455988A>G	(Likely) benign	2 labs	80af5b1f0e
3:14176398 TMEM43 G>A	3	14176398	14176398	G	A	TMEM43	c.705+7G>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14176398G>A	(Likely) benign	5 labs	80b3a42745
2:179399706 TTN T>C	2	179399706	179399706	T	C	TTN	c.101636A>G	NM_001267550.2	NP_001254479.2:p.(His33879Arg)	NC_000002.11:g.179399706T>C	VUS	3 labs	80b42297d4
17:39913731 JUP C>T	17	39913731	39913731	C	T	JUP	c.1982G>A	NM_002230.4	NP_002221.1:p.(Arg661Gln)	NC_000017.10:g.39913731C>T	VUS	2 labs	80b801279e
2:179605626 TTN G>A	2	179605626	179605626	G	A	TTN	c.12334C>T	NM_001267550.2	NP_001254479.2:p.(Gln4112Ter)	NC_000002.11:g.179605626G>A	(Likely) pathogenic	2 labs	80bdd2efa8
16:23226787 SCNN1G C>G	16	23226787	23226787	C	G	SCNN1G	c.1947C>G	NM_001039.4	NP_001030.2:p.(Leu649=)	NC_000016.9:g.23226787C>G	(Likely) benign	2 labs	80e25a604e
7:21901566 DNAH11 T>C	7	21901566	21901566	T	C	DNAH11	c.11298T>C	NM_001277115.2	NP_001264044.1:p.(His3766=)	NC_000007.13:g.21901566T>C	(Likely) benign	2 labs	80e9290880
4:41748007 PHOX2B T>G	4	41748007	41748007	T	G	PHOX2B	c.762A>C	NM_003924.4	NP_003915.2:p.(Ala254=)	NC_000004.11:g.41748007T>G	(Likely) benign	2 labs	80ec31f201
7:148080898 CNTNAP2 G>A	7	148080898	148080898	G	A	CNTNAP2	c.3633G>A	NM_014141.6	NP_054860.1:p.(Glu1211=)	NC_000007.13:g.148080898G>A	(Likely) benign	3 labs	80f602fb51
10:43615633 RET C>G	10	43615633	43615633	C	G	RET	c.2712C>G	NM_020975.6	NP_066124.1:p.(Ser904=)	NC_000010.10:g.43615633C>G	(Likely) benign	4 labs	81122e2d8a
2:179486278 TTN G>A	2	179486278	179486278	G	A	TTN	c.45273C>T	NM_001267550.2	NP_001254479.2:p.(Asn15091=)	NC_000002.11:g.179486278G>A	(Likely) benign	6 labs	81141d1deb
10:112540614 RBM20 C>A	10	112540614	112540614	C	A	RBM20	c.247C>A	NM_001134363.3	NP_001127835.2:p.(Leu83Ile)	NC_000010.10:g.112540614C>A	VUS	2 labs	8117a6d99e
2:189861205 COL3A1 G>A	2	189861205	189861205	G	A	COL3A1	c.1744G>A	NM_000090.4	NP_000081.2:p.(Gly582Ser)	NC_000002.11:g.189861205G>A	(Likely) pathogenic	2 labs	8130d8d860
6:7580564 DSP A>T	6	7580564	7580564	A	T	DSP	c.4141A>T	NM_004415.4	NP_004406.2:p.(Thr1381Ser)	NC_000006.11:g.7580564A>T	(Likely) benign	4 labs	8137a7340c
19:16593318 CALR3 C>T	19	16593318	16593318	C	T	CALR3	c.861G>A	NM_145046.5	NP_659483.2:p.(Thr287=)	NC_000019.9:g.16593318C>T	(Likely) benign	5 labs	814a1b2c77
18:77473086 CTDP1 G>A	18	77473086	77473086	G	A	CTDP1	c.978G>A	NM_004715.5	NP_004706.3:p.(Thr326=)	NC_000018.9:g.77473086G>A	(Likely) benign	2 labs	8155249630
1:66102118 LEPR C>A	1	66102118	66102118	C	A	LEPR	c.2918C>A	NM_002303.6	NP_002294.2:p.(Thr973Asn)	NC_000001.10:g.66102118C>A	(Likely) benign	2 labs	815c65a789
2:86481873 REEP1 C>G	2	86481873	86481873	C	G	REEP1	c.247G>C	NM_022912.3	NP_075063.1:p.(Gly83Arg)	NC_000002.11:g.86481873C>G	VUS	3 labs	8166d5b2ef
14:23870076 MYH6 C>T	14	23870076	23870076	C	T	MYH6	c.1252G>A	NM_002471.4	NP_002462.2:p.(Val418Met)	NC_000014.8:g.23870076C>T	(Likely) benign	5 labs	817c947523
2:39250386 SOS1 A>G	2	39250386	39250386	A	G	SOS1	c.1203-20T>C	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39250386A>G	(Likely) benign	2 labs	8185bcde09
20:22562921 FOXA2 T>G	20	22562921	22562921	T	G	FOXA2	c.959A>C	NM_021784.5	NP_068556.2:p.(His320Pro)	NC_000020.10:g.22562921T>G	(Likely) benign	2 labs	81a407a36e
X:32503194 DMD T>C	X	32503194	32503194	T	C	DMD	c.2645A>G	NM_004006.3	NP_003997.2:p.(Asp882Gly)	NC_000023.10:g.32503194T>C	(Likely) benign	2 labs	81c45b5767
2:86481835 REEP1 C>T	2	86481835	86481835	C	T	REEP1	c.285G>A	NM_022912.3	NP_075063.1:p.(Thr95=)	NC_000002.11:g.86481835C>T	(Likely) benign	3 labs	81d690a592
19:11213417 LDLR G>A	19	11213417	11213417	G	A	LDLR	c.268G>A	NM_000527.5	NP_000518.1:p.(Asp90Asn)	NC_000019.9:g.11213417G>A	(Likely) pathogenic	2 labs	81db1fc7e5
2:29416168 ALK G>A	2	29416168	29416168	G	A	ALK	c.4785C>T	NM_004304.5	NP_004295.2:p.(Ala1595=)	NC_000002.11:g.29416168G>A	(Likely) benign	3 labs	81e3c94284
16:2096239 NTHL1 G>A	16	2096239	2096239	G	A	NTHL1	c.244C>T	NM_002528.7	NP_002519.2:p.(Gln82Ter)	NC_000016.9:g.2096239G>A	(Likely) pathogenic	6 labs	81f27850ae
17:29560217 NF1 C>T	17	29560217	29560217	C	T	NF1	c.3694C>T	NM_000267.3	NP_000258.1:p.(Pro1232Ser)	NC_000017.10:g.29560217C>T	VUS	4 labs	81f30004e2
9:107587997 ABCA1 C>A	9	107587997	107587997	C	A	ABCA1	c.2509G>T	NM_005502.4	NP_005493.2:p.(Val837Leu)	NC_000009.11:g.107587997C>A	VUS	2 labs	950f9170dc
2:179432600 TTN C>A	2	179432600	179432600	C	A	TTN	c.78259G>T	NM_001267550.2	NP_001254479.2:p.(Asp26087Tyr)	NC_000002.11:g.179432600C>A	VUS	3 labs	81fc7b4af2
2:73675844 ALMS1 C>T	2	73675844	73675844	C	T	ALMS1	c.2193C>T	NM_015120.4	NP_055935.4:p.(Phe731=)	NC_000002.11:g.73675844C>T	(Likely) benign	3 labs	81fc86d0f0
9:21974769 CDKN2A C>A	9	21974769	21974769	C	A	CDKN2A	c.58G>T	NM_000077.5	NP_000068.1:p.(Ala20Ser)	NC_000009.11:g.21974769C>A	VUS	2 labs	821f3d049e
19:35758620 LSR G>A	19	35758620	35758620	G	A	LSR	c.1753G>A	NM_205834.4	NP_991403.2:p.(Glu585Lys)	NC_000019.9:g.35758620G>A	(Likely) benign	2 labs	82212e5930
6:7583554 DSP G>C	6	7583554	7583554	G	C	DSP	c.6059G>C	NM_004415.4	NP_004406.2:p.(Gly2020Ala)	NC_000006.11:g.7583554G>C	VUS	5 labs	8235b8f0ed
22:29091220 CHEK2 A>G	22	29091220	29091220	A	G	CHEK2	c.1270T>C	NM_007194.4	NP_009125.1:p.(Tyr424His)	NC_000022.10:g.29091220A>G	VUS	5 labs	823dc9d47b
14:94847262 SERPINA1 T>A	14	94847262	94847262	T	A	SERPINA1	c.863A>T	NM_000295.5	NP_000286.3:p.(Glu288Val)	NC_000014.8:g.94847262T>A	(Likely) pathogenic	4 labs	8245626aa2
5:53751901 HSPB3 G>A	5	53751901	53751901	G	A	HSPB3	c.282G>A	NM_006308.3	NP_006299.1:p.(Leu94=)	NC_000005.9:g.53751901G>A	(Likely) benign	3 labs	824b0984a7
13:78475313 EDNRB T>C	13	78475313	78475313	T	C	EDNRB	c.1101A>G	NM_001201397.1	NP_001188326.1:p.(Leu367=)	NC_000013.10:g.78475313T>C	(Likely) benign	2 labs	824bb671c4
X:41383235 CASK G>A	X	41383235	41383235	G	A	CASK	c.2558C>T	NM_003688.3	NP_003679.2:p.(Ala853Val)	NC_000023.10:g.41383235G>A	VUS	2 labs	9598d15d34
2:179449470 TTN C>T	2	179449470	179449470	C	T	TTN	c.64898G>A	NM_001267550.2	NP_001254479.2:p.(Arg21633Gln)	NC_000002.11:g.179449470C>T	VUS	3 labs	825862c998
13:25473571 CPAP G>A	13	25473571	25473571	G	A	CPAP	c.2977C>T	NM_018451.5	NP_060921.3:p.(Arg993Cys)	NC_000013.10:g.25473571G>A	VUS	2 labs	825b1011cc
10:97380867 ALDH18A1 T>A	10	97380867	97380867	T	A	ALDH18A1	c.1388A>T	NM_002860.4	NP_002851.2:p.(Asn463Ile)	NC_000010.10:g.97380867T>A	VUS	2 labs	8262fef07b
2:169997051 LRP2 G>A	2	169997051	169997051	G	A	LRP2	c.13113C>T	NM_004525.3	NP_004516.2:p.(Ile4371=)	NC_000002.11:g.169997051G>A	(Likely) benign	2 labs	8275472360
15:89876827 POLG T>TTGCTGC	15	89876827	89876860	T	TTGCTGC	POLG	c.153_158dup	NM_002693.3	NP_002684.1:p.(Gln54_Gln55dup)	NC_000015.9:g.89876855_89876860dup	(Likely) benign	4 labs	827860bfc9
12:48389023 COL2A1 C>T	12	48389023	48389023	C	T	COL2A1	c.762+15G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389023C>T	(Likely) benign	4 labs	827f112689
X:148582549 IDS G>A	X	148582549	148582549	G	A	IDS	c.438C>T	NM_000202.8	NP_000193.1:p.(Thr146=)	NC_000023.10:g.148582549G>A	(Likely) benign	3 labs	827f22b94c
11:62287385 AHNAK G>A	11	62287385	62287385	G	A	AHNAK	c.14504C>T	NM_001620.3	NP_001611.1:p.(Pro4835Leu)	NC_000011.9:g.62287385G>A	VUS	2 labs	82815ea682
15:100514614 ADAMTS17 T>C	15	100514614	100514614	T	C	ADAMTS17	c.3281A>G	NM_139057.4	NP_620688.2:p.(Asn1094Ser)	NC_000015.9:g.100514614T>C	(Likely) benign	2 labs	8281c3cd68
7:128481358 FLNC C>T	7	128481358	128481358	C	T	FLNC	c.1948C>T	NM_001458.5	NP_001449.3:p.(Arg650Ter)	NC_000007.13:g.128481358C>T	(Likely) pathogenic	5 labs	829c1ce3bc
4:100534224 MTTP C>G	4	100534224	100534224	C	G	MTTP	c.2144C>G	NM_000253.4	NP_000244.2:p.(Ser715Cys)	NC_000004.11:g.100534224C>G	VUS	3 labs	82a019cf22
17:41246737 BRCA1 C>G	17	41246737	41246737	C	G	BRCA1	c.811G>C	NM_007294.4	NP_009225.1:p.(Val271Leu)	NC_000017.10:g.41246737C>G	(Likely) benign	3 labs	82a043e73f
1:74835130 TNNI3K G>T	1	74835130	74835130	G	T	TNNI3K	c.1528G>T	NM_015978.3	NP_057062.1:p.(Val510Leu)	NC_000001.10:g.74835130G>T	(Likely) benign	4 labs	82b180541d
2:233712296 GIGYF2 G>A	2	233712296	233712296	G	A	GIGYF2	c.3684+15G>A	NM_015575.4	NP_056390.2:p.?	NC_000002.11:g.233712296G>A	(Likely) benign	3 labs	82b6f2adb8
3:53769479 CACNA1D C>T	3	53769479	53769479	C	T	CACNA1D	c.2760C>T	NM_000720.4	NP_000711.1:p.(Ser920=)	NC_000003.11:g.53769479C>T	(Likely) benign	2 labs	82bbebae54
15:100594271 ADAMTS17 G>A	15	100594271	100594271	G	A	ADAMTS17	c.2138-12C>T	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100594271G>A	(Likely) benign	2 labs	82c32ef4ff
2:179437254 TTN A>G	2	179437254	179437254	A	G	TTN	c.73605T>C	NM_001267550.2	NP_001254479.2:p.(Ser24535=)	NC_000002.11:g.179437254A>G	(Likely) benign	2 labs	82c8c62d5c
16:68845571 CDH1 C>G	16	68845571	68845571	C	G	CDH1	c.833-16C>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68845571C>G	(Likely) benign	2 labs	82d7b55d42
12:2721137 CACNA1C C>T	12	2721137	2721137	C	T	CACNA1C	c.3786C>T	NM_000719.7	NP_000710.5:p.(Phe1262=)	NC_000012.11:g.2721137C>T	(Likely) benign	2 labs	82d9335bd2
11:108175475 ATM C>A	11	108175475	108175475	C	A	ATM	c.5570C>A	NM_001351834.2	NP_001338763.1:p.(Ser1857Ter)	NC_000011.9:g.108175475C>A	(Likely) pathogenic	3 labs	82dc0ec3c9
11:57379170 SERPING1 A>G	11	57379170	57379170	A	G	SERPING1	c.1030-20A>G	NM_000062.3	NP_000053.2:p.?	NC_000011.9:g.57379170A>G	(Likely) benign	3 labs	82fdc1d053
19:18991150 GDF1 C>T	19	18991150	18991150	C	T	GDF1	c.-638G>A	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18991150C>T	VUS	2 labs	8304a65b4b
5:127702112 FBN2 C>T	5	127702112	127702112	C	T	FBN2	c.2260G>A	NM_001999.4	NP_001990.2:p.(Gly754Ser)	NC_000005.9:g.127702112C>T	(Likely) benign	4 labs	83083f9e3e
7:94227273 SGCE C>T	7	94227273	94227273	C	T	SGCE	c.1297G>A	NM_001099401.2	NP_001092871.1:p.(Asp433Asn)	NC_000007.13:g.94227273C>T	(Likely) benign	2 labs	830a4af5ba
2:179593352 TTN C>T	2	179593352	179593352	C	T	TTN	c.19301G>A	NM_001267550.2	NP_001254479.2:p.(Ser6434Asn)	NC_000002.11:g.179593352C>T	(Likely) benign	4 labs	831337766f
15:73029850 BBS4 C>A	15	73029850	73029850	C	A	BBS4	c.1482C>A	NM_033028.5	NP_149017.2:p.(Pro494=)	NC_000015.9:g.73029850C>A	(Likely) benign	3 labs	8326dd9e77
1:241680592 FH C>A	1	241680592	241680592	C	A	FH	c.157G>T	NM_000143.4	NP_000134.2:p.(Glu53Ter)	NC_000001.10:g.241680592C>A	(Likely) pathogenic	2 labs	83282d9087
2:179490076 TTN A>G	2	179490076	179490076	A	G	TTN	c.44472T>C	NM_001267550.2	NP_001254479.2:p.(Asp14824=)	NC_000002.11:g.179490076A>G	(Likely) benign	3 labs	832b17496b
14:23885225 MYH7 C>T	14	23885225	23885225	C	T	MYH7	c.4941G>A	NM_000257.4	NP_000248.2:p.(Gln1647=)	NC_000014.8:g.23885225C>T	(Likely) benign	2 labs	8334857b73
2:179423145 TTN C>T	2	179423145	179423145	C	T	TTN	c.87041G>A	NM_001267550.2	NP_001254479.2:p.(Arg29014Gln)	NC_000002.11:g.179423145C>T	VUS	5 labs	8336643259
1:57395251 C8B T>C	1	57395251	57395251	T	C	C8B	c.1466-20A>G	NM_001278543.2	NP_001265472.2:p.?	NC_000001.10:g.57395251T>C	(Likely) benign	2 labs	8337e0ce95
X:66931295 AR C>A	X	66931295	66931295	C	A	AR	c.1937C>A	NM_000044.6	NP_000035.2:p.(Ala646Asp)	NC_000023.10:g.66931295C>A	(Likely) benign	5 labs	8344fb3347
1:197297540 CRB1 A>T	1	197297540	197297540	A	T	CRB1	c.-137-12A>T	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197297540A>T	(Likely) benign	2 labs	835cc339ae
15:75182424 MPI C>T	15	75182424	75182424	C	T	MPI	c.10C>T	NM_002435.3	NP_002426.1:p.(Pro4Ser)	NC_000015.9:g.75182424C>T	(Likely) benign	4 labs	8365e0c68c
4:88996052 PKD2 G>A	4	88996052	88996052	G	A	PKD2	c.2611G>A	NM_000297.4	NP_000288.1:p.(Glu871Lys)	NC_000004.11:g.88996052G>A	VUS	2 labs	8370a64ae6
2:71747899 DYSF G>A	2	71747899	71747899	G	A	DYSF	c.1031-20G>A	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71747899G>A	(Likely) benign	3 labs	8372fe0482
1:17332059 ATP13A2 C>T	1	17332059	17332059	C	T	ATP13A2	c.106-8G>A	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17332059C>T	(Likely) benign	2 labs	83743e5351
3:180379648 CCDC39 C>G	3	180379648	180379648	C	G	CCDC39	c.357+1G>C	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180379648C>G	(Likely) pathogenic	3 labs	837c36bcc6
11:116661603 APOA5 C>T	11	116661603	116661603	C	T	APOA5	c.342G>A	NM_052968.5	NP_443200.2:p.(Ala114=)	NC_000011.9:g.116661603C>T	(Likely) benign	2 labs	83892407dc
2:47637249 MSH2 T>G	2	47637249	47637249	T	G	MSH2	c.383T>G	NM_000251.3	NP_000242.1:p.(Leu128Arg)	NC_000002.11:g.47637249T>G	VUS	2 labs	8396c1cb6d
17:41243941 BRCA1 G>A	17	41243941	41243941	G	A	BRCA1	c.3607C>T	NM_007294.4	NP_009225.1:p.(Arg1203Ter)	NC_000017.10:g.41243941G>A	(Likely) pathogenic	5 labs	83b33b6aba
12:21995400 ABCC9 G>A	12	21995400	21995400	G	A	ABCC9	c.3321C>T	NM_020297.4	NP_064693.2:p.(Ile1107=)	NC_000012.11:g.21995400G>A	(Likely) benign	4 labs	83b6bd78a9
6:7568036 DSP C>T	6	7568036	7568036	C	T	DSP	c.1163C>T	NM_004415.4	NP_004406.2:p.(Thr388Ile)	NC_000006.11:g.7568036C>T	VUS	2 labs	97fb640041
2:202575821 ALS2 G>A	2	202575821	202575821	G	A	ALS2	c.4015C>T	NM_020919.4	NP_065970.2:p.(Leu1339=)	NC_000002.11:g.202575821G>A	(Likely) benign	5 labs	83d8412230
11:17415914 ABCC8 T>C	11	17415914	17415914	T	C	ABCC8	c.4444A>G	NM_000352.6	NP_000343.2:p.(Ser1482Gly)	NC_000011.9:g.17415914T>C	VUS	2 labs	83dc70ce2c
9:140130606 SLC34A3 A>T	9	140130606	140130606	A	T	SLC34A3	c.1538=	NM_001177317.1	NP_001170788.1:p.(Val513=)	NC_000009.11:g.140130606A>T	(Likely) benign	2 labs	83e35a8bad
X:47485521 CFP G>A	X	47485521	47485521	G	A	CFP	c.1180C>T	NM_002621.2	NP_002612.1:p.(Pro394Ser)	NC_000023.10:g.47485521G>A	VUS	2 labs	83e92eac85
2:179422653 TTN C>A	2	179422653	179422653	C	A	TTN	c.87428G>T	NM_001267550.2	NP_001254479.2:p.(Gly29143Val)	NC_000002.11:g.179422653C>A	VUS	2 labs	83f0776bec
4:107168420 TBCK CTTCA>C	4	107168420	107168426	CTTCA	C	TBCK	c.287_290del	NM_001290768.2	NP_001277697.2:p.(Met96ArgfsTer26)	NC_000004.11:g.107168423_107168426del	(Likely) pathogenic	2 labs	83f0fa6afb
12:13716638 GRIN2B G>A	12	13716638	13716638	G	A	GRIN2B	c.3534C>T	NM_000834.5	NP_000825.2:p.(His1178=)	NC_000012.11:g.13716638G>A	(Likely) benign	2 labs	982a2bd754
8:11565862 GATA4 CCCCCGGTGCCTACGAGGCGGGCGG>C	8	11565862	11565892	CCCCCGGTGCCTACGAGGCGGGCGG	C	GATA4	c.48_71del	NM_002052.5	NP_002043.2:p.(Tyr18_Ala25del)	NC_000008.10:g.11565869_11565892del	VUS	2 labs	83f141f222
2:179396279 TTN G>A	2	179396279	179396279	G	A	TTN	c.105063C>T	NM_001267550.2	NP_001254479.2:p.(Gly35021=)	NC_000002.11:g.179396279G>A	(Likely) benign	2 labs	8401ce48ab
2:220285596 DES G>A	2	220285596	220285596	G	A	DES	c.944G>A	NM_001927.4	NP_001918.3:p.(Arg315His)	NC_000002.11:g.220285596G>A	VUS	2 labs	8406360313
14:23859658 MYH6 G>T	14	23859658	23859658	G	T	MYH6	c.3343-3C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23859658G>T	(Likely) benign	2 labs	840f20130f
17:17127262 FLCN C>T	17	17127262	17127262	C	T	FLCN	c.592G>A	NM_144997.7	NP_659434.2:p.(Asp198Asn)	NC_000017.10:g.17127262C>T	(Likely) benign	2 labs	841611d7d0
7:56087365 PSPH A>G	7	56087365	56087365	A	G	PSPH	c.203T>C	NM_004577.4	NP_004568.2:p.(Leu68Pro)	NC_000007.13:g.56087365A>G	(Likely) benign	2 labs	8423216af2
12:4481788 FGF23 A>G	12	4481788	4481788	A	G	FGF23	c.287T>C	NM_020638.3	NP_065689.1:p.(Met96Thr)	NC_000012.11:g.4481788A>G	(Likely) pathogenic	2 labs	8425e9a8b4
2:179594419 TTN C>T	2	179594419	179594419	C	T	TTN	c.18561G>A	NM_001267550.2	NP_001254479.2:p.(Ala6187=)	NC_000002.11:g.179594419C>T	(Likely) benign	2 labs	84263cb794
16:89620204 SPG7 G>T	16	89620204	89620204	G	T	SPG7	c.1939G>T	NM_003119.4	NP_003110.1:p.(Ala647Ser)	NC_000016.9:g.89620204G>T	VUS	3 labs	842738feeb
1:152284433 FLG G>A	1	152284433	152284433	G	A	FLG	c.2929C>T	NM_002016.2	NP_002007.1:p.(Gln977Ter)	NC_000001.10:g.152284433G>A	(Likely) pathogenic	3 labs	842c9abf0f
9:130219669 LRSAM1 C>T	9	130219669	130219669	C	T	LRSAM1	c.249C>T	NM_138361.5	NP_612370.3:p.(Ile83=)	NC_000009.11:g.130219669C>T	(Likely) benign	2 labs	842ddb2c56
X:130415818 IGSF1 T>C	X	130415818	130415818	T	C	IGSF1	c.1347A>G	NM_001170961.2	NP_001164432.1:p.(Glu449=)	NC_000023.10:g.130415818T>C	(Likely) benign	2 labs	84362e71cb
6:88231226 RARS2 T>C	6	88231226	88231226	T	C	RARS2	c.991A>G	NM_020320.5	NP_064716.2:p.(Ile331Val)	NC_000006.11:g.88231226T>C	(Likely) benign	2 labs	843e8687ff
9:100616583 FOXE1 T>C	9	100616583	100616583	T	C	FOXE1	c.387T>C	NM_004473.4	NP_004464.2:p.(Leu129=)	NC_000009.11:g.100616583T>C	(Likely) benign	2 labs	843fb38740
11:108196797 ATM G>A	11	108196797	108196797	G	A	ATM	c.6820G>A	NM_000051.4	NP_000042.3:p.(Ala2274Thr)	NC_000011.9:g.108196797G>A	VUS	2 labs	844a5436dd
11:16117560 SOX6 G>C	11	16117560	16117560	G	C	SOX6	c.1083C>G	NM_033326.3	NP_201583.2:p.(Tyr361Ter)	NC_000011.9:g.16117560G>C	VUS	2 labs	8454a7f3c2
4:6304016 WFS1 C>T	4	6304016	6304016	C	T	WFS1	c.2494C>T	NM_006005.3	NP_005996.2:p.(Arg832Cys)	NC_000004.11:g.6304016C>T	VUS	2 labs	8546df55f7
10:13158262 OPTN C>T	10	13158262	13158262	C	T	OPTN	c.553-5C>T	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13158262C>T	(Likely) benign	3 labs	8457deeecc
6:42946587 PEX6 G>C	6	42946587	42946587	G	C	PEX6	c.302C>G	NM_000287.4	NP_000278.3:p.(Pro101Arg)	NC_000006.11:g.42946587G>C	VUS	2 labs	8462b74dd4
1:155874589 RIT1 G>C	1	155874589	155874589	G	C	RIT1	c.170C>G	NM_006912.6	NP_008843.1:p.(Ala57Gly)	NC_000001.10:g.155874589G>C	(Likely) pathogenic	3 labs	846cde6ce8
1:156104745 LMNA G>A	1	156104745	156104745	G	A	LMNA	c.789G>A	NM_170707.4	NP_733821.1:p.(Leu263=)	NC_000001.10:g.156104745G>A	(Likely) benign	2 labs	43031a345b
1:215853692 USH2A G>A	1	215853692	215853692	G	A	USH2A	c.12093C>T	NM_206933.4	NP_996816.3:p.(Tyr4031=)	NC_000001.10:g.215853692G>A	(Likely) benign	4 labs	848acbaa6c
21:47422639 COL6A1 A>G	21	47422639	47422639	A	G	COL6A1	c.2434+15A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422639A>G	(Likely) benign	4 labs	8498a68cdd
2:21232373 APOB G>T	2	21232373	21232373	G	T	APOB	c.7367C>A	NM_000384.3	NP_000375.3:p.(Ala2456Asp)	NC_000002.11:g.21232373G>T	(Likely) benign	2 labs	849914bed5
2:179413782 TTN AAT>A	2	179413782	179413787	AAT	A	TTN	c.92569_92570del	NM_001267550.2	NP_001254479.2:p.(Ile30857TyrfsTer2)	NC_000002.11:g.179413786_179413787del	(Likely) pathogenic	3 labs	84a0e6e739
1:237995919 RYR2 G>A	1	237995919	237995919	G	A	RYR2	c.14876G>A	NM_001035.3	NP_001026.2:p.(Arg4959Gln)	NC_000001.10:g.237995919G>A	(Likely) pathogenic	4 labs	84c475db6b
11:47360053 MYBPC3 G>C	11	47360053	47360053	G	C	MYBPC3	c.2308+18C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360053G>C	(Likely) benign	5 labs	84c8860b72
7:101917515 CUX1 G>A	7	101917515	101917515	G	A	CUX1	c.1384G>A	NM_001913.5	NP_001904.2:p.(Gly462Ser)	NC_000007.13:g.101917515G>A	(Likely) benign	2 labs	84eea74f19
X:2729374 XG C>T	X	2729374	2729374	C	T	XG	c.455-3C>T	NM_001141919.2	NP_001135391.1:p.?	NC_000023.10:g.2729374C>T	(Likely) benign	2 labs	84f58858a8
3:133474328 TF G>A	3	133474328	133474328	G	A	TF	c.624G>A	NM_001063.4	NP_001054.2:p.(Ser208=)	NC_000003.11:g.133474328G>A	(Likely) benign	2 labs	84f9022695
1:197031021 F13B C>T	1	197031021	197031021	C	T	F13B	c.344G>A	NM_001994.3	NP_001985.2:p.(Arg115His)	NC_000001.10:g.197031021C>T	(Likely) benign	2 labs	85041756bb
19:49705266 TRPM4 G>A	19	49705266	49705266	G	A	TRPM4	c.2999G>A	NM_017636.4	NP_060106.2:p.(Trp1000Ter)	NC_000019.9:g.49705266G>A	VUS	2 labs	850a673435
19:11227672 LDLR G>A	19	11227672	11227672	G	A	LDLR	c.1843G>A	NM_000527.5	NP_000518.1:p.(Glu615Lys)	NC_000019.9:g.11227672G>A	(Likely) pathogenic	2 labs	850ae621b5
17:41243887 BRCA1 C>A	17	41243887	41243887	C	A	BRCA1	c.3661G>T	NM_007294.4	NP_009225.1:p.(Glu1221Ter)	NC_000017.10:g.41243887C>A	(Likely) pathogenic	2 labs	8510a155d4
12:110034320 MVK G>A	12	110034320	110034320	G	A	MVK	c.1129G>A	NM_000431.4	NP_000422.1:p.(Val377Ile)	NC_000012.11:g.110034320G>A	(Likely) pathogenic	6 labs	85326368f0
22:36684354 MYH9 T>C	22	36684354	36684354	T	C	MYH9	c.4876A>G	NM_002473.6	NP_002464.1:p.(Ile1626Val)	NC_000022.10:g.36684354T>C	(Likely) benign	2 labs	8535cb0c44
2:179558412 TTN G>A	2	179558412	179558412	G	A	TTN	c.31518C>T	NM_001267550.2	NP_001254479.2:p.(Pro10506=)	NC_000002.11:g.179558412G>A	(Likely) benign	2 labs	85372a22d1
17:76120065 TMC6 A>G	17	76120065	76120065	A	G	TMC6	c.1082+5T>C	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76120065A>G	(Likely) benign	2 labs	85395d6a06
15:85400643 ALPK3 G>A	15	85400643	85400643	G	A	ALPK3	c.2674G>A	NM_020778.5	NP_065829.4:p.(Gly892Arg)	NC_000015.9:g.85400643G>A	(Likely) benign	3 labs	853e0ed54b
3:48626159 COL7A1 C>T	3	48626159	48626159	C	T	COL7A1	c.2503G>A	NM_000094.4	NP_000085.1:p.(Glu835Lys)	NC_000003.11:g.48626159C>T	VUS	2 labs	854000eb3a
2:179454067 TTN G>T	2	179454067	179454067	G	T	TTN	c.62385C>A	NM_001267550.2	NP_001254479.2:p.(Gly20795=)	NC_000002.11:g.179454067G>T	(Likely) benign	5 labs	8548f78ebc
1:3319510 PRDM16 G>A	1	3319510	3319510	G	A	PRDM16	c.832G>A	NM_022114.4	NP_071397.3:p.(Gly278Ser)	NC_000001.10:g.3319510G>A	(Likely) benign	3 labs	8552408573
12:32974302 PKP2 G>A	12	32974302	32974302	G	A	PKP2	c.2133C>T	NM_004572.4	NP_004563.2:p.(Ala711=)	NC_000012.11:g.32974302G>A	(Likely) benign	4 labs	8555aa5b7c
13:23928671 SACS C>T	13	23928671	23928671	C	T	SACS	c.2080G>A	NM_014363.6	NP_055178.3:p.(Ala694Thr)	NC_000013.10:g.23928671C>T	(Likely) benign	5 labs	85582e42a1
10:72358167 PRF1 G>A	10	72358167	72358167	G	A	PRF1	c.1310C>T	NM_001083116.3	NP_001076585.1:p.(Ala437Val)	NC_000010.10:g.72358167G>A	VUS	3 labs	8561197b59
16:84209634 DNAAF1 C>G	16	84209634	84209634	C	G	DNAAF1	c.1794C>G	NM_178452.6	NP_848547.4:p.(Leu598=)	NC_000016.9:g.84209634C>G	(Likely) benign	2 labs	85633921f4
5:89990324 ADGRV1 A>G	5	89990324	89990324	A	G	ADGRV1	c.7751A>G	NM_032119.4	NP_115495.3:p.(Asn2584Ser)	NC_000005.9:g.89990324A>G	(Likely) benign	3 labs	857449584a
1:45974776 MMACHC C>T	1	45974776	45974776	C	T	MMACHC	c.738C>T	NM_015506.3	NP_056321.2:p.(Pro246=)	NC_000001.10:g.45974776C>T	(Likely) benign	2 labs	8578647b86
16:50744624 NOD2 C>T	16	50744624	50744624	C	T	NOD2	c.802C>T	NM_022162.3	NP_071445.1:p.(Pro268Ser)	NC_000016.9:g.50744624C>T	(Likely) benign	2 labs	85803ff3ed
2:179431174 TTN C>T	2	179431174	179431174	C	T	TTN	c.79685G>A	NM_001267550.2	NP_001254479.2:p.(Arg26562Gln)	NC_000002.11:g.179431174C>T	VUS	2 labs	858049db76
X:100603658 TIMM8A G>A	X	100603658	100603658	G	A	TIMM8A	c.-6C>T	NM_004085.4	NP_004076.1:p.?	NC_000023.10:g.100603658G>A	(Likely) benign	2 labs	85828d5295
2:48027167 MSH6 C>T	2	48027167	48027167	C	T	MSH6	c.2045C>T	NM_000179.3	NP_000170.1:p.(Ser682Phe)	NC_000002.11:g.48027167C>T	VUS	2 labs	8589a51f6a
8:106814417 ZFPM2 A>C	8	106814417	106814417	A	C	ZFPM2	c.2107A>C	NM_012082.4	NP_036214.2:p.(Met703Leu)	NC_000008.10:g.106814417A>C	VUS	2 labs	858eec2a49
1:47717189 STIL A>G	1	47717189	47717189	A	G	STIL	c.3486T>C	NM_001048166.1	NP_001041631.1:p.(Pro1162=)	NC_000001.10:g.47717189A>G	(Likely) benign	3 labs	8590f061ba
2:179412453 TTN G>A	2	179412453	179412453	G	A	TTN	c.93900C>T	NM_001267550.2	NP_001254479.2:p.(Ser31300=)	NC_000002.11:g.179412453G>A	(Likely) benign	5 labs	859169fff3
2:179575832 TTN G>A	2	179575832	179575832	G	A	TTN	c.28131C>T	NM_001267550.2	NP_001254479.2:p.(Asn9377=)	NC_000002.11:g.179575832G>A	(Likely) benign	6 labs	85932ecdba
22:25601196 CRYBB3 C>G	22	25601196	25601196	C	G	CRYBB3	c.337C>G	NM_004076.5	NP_004067.1:p.(His113Asp)	NC_000022.10:g.25601196C>G	(Likely) benign	2 labs	85a1b163f6
7:94040477 COL1A2 A>T	7	94040477	94040477	A	T	COL1A2	c.1350+11A>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040477A>T	(Likely) benign	2 labs	85ad3aaead
10:104160728 NFKB2 A>T	10	104160728	104160728	A	T	NFKB2	c.1993A>T	NM_001077494.3	NP_001070962.1:p.(Thr665Ser)	NC_000010.10:g.104160728A>T	(Likely) benign	2 labs	85b08a3fbc
11:125851055 CDON A>G	11	125851055	125851055	A	G	CDON	c.3165T>C	NM_001243597.2	NP_001230526.1:p.(Asn1055=)	NC_000011.9:g.125851055A>G	(Likely) benign	2 labs	85bb303004
9:130263438 LRSAM1 T>C	9	130263438	130263438	T	C	LRSAM1	c.2046+16T>C	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130263438T>C	(Likely) benign	2 labs	85c8588684
6:146056476 EPM2A G>C	6	146056476	146056476	G	C	EPM2A	c.159C>G	NM_005670.4	NP_005661.1:p.(Ala53=)	NC_000006.11:g.146056476G>C	(Likely) benign	3 labs	85d30e082c
7:16445673 CRPPA A>T	7	16445673	16445673	A	T	CRPPA	c.534+13T>A	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16445673A>T	(Likely) benign	4 labs	85d7e27d3a
1:120484182 NOTCH2 T>C	1	120484182	120484182	T	C	NOTCH2	c.2948A>G	NM_024408.4	NP_077719.2:p.(His983Arg)	NC_000001.10:g.120484182T>C	VUS	2 labs	85d8236265
21:47545768 COL6A2 G>A	21	47545768	47545768	G	A	COL6A2	c.2039G>A	NM_058175.3	NP_478055.2:p.(Arg680His)	NC_000021.8:g.47545768G>A	(Likely) benign	3 labs	85defafddf
18:10800452 PIEZO2 C>G	18	10800452	10800452	C	G	PIEZO2	c.1261G>C	NM_022068.4	NP_071351.2:p.(Gly421Arg)	NC_000018.9:g.10800452C>G	VUS	2 labs	85e0cf3d30
11:121425897 SORL1 G>A	11	121425897	121425897	G	A	SORL1	c.2441G>A	NM_003105.6	NP_003096.2:p.(Arg814His)	NC_000011.9:g.121425897G>A	VUS	2 labs	85f4ae9897
12:48380136 COL2A1 C>T	12	48380136	48380136	C	T	COL2A1	c.1510G>A	NM_001844.5	NP_001835.3:p.(Gly504Ser)	NC_000012.11:g.48380136C>T	(Likely) pathogenic	2 labs	85f548ef65
17:41246290 BRCA1 CT>C	17	41246290	41246291	CT	C	BRCA1	c.1257del	NM_007294.4	NP_009225.1:p.(Asp420MetfsTer10)	NC_000017.10:g.41246291del	(Likely) pathogenic	2 labs	85fa10183b
18:67687924 RTTN G>A	18	67687924	67687924	G	A	RTTN	c.6080C>T	NM_173630.4	NP_775901.3:p.(Thr2027Met)	NC_000018.9:g.67687924G>A	VUS	2 labs	85fefd9a29
8:144990879 PLEC G>A	8	144990879	144990879	G	A	PLEC	c.13521C>T	NM_201380.4	NP_958782.1:p.(Ala4507=)	NC_000008.10:g.144990879G>A	(Likely) benign	2 labs	8601c4f4e1
16:1502857 CLCN7 C>T	16	1502857	1502857	C	T	CLCN7	c.1252G>A	NM_001287.6	NP_001278.1:p.(Val418Met)	NC_000016.9:g.1502857C>T	(Likely) benign	2 labs	8615a44e47
1:10355834 KIF1B C>T	1	10355834	10355834	C	T	KIF1B	c.1639+10C>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10355834C>T	(Likely) benign	3 labs	863bbab3aa
5:7878179 MTRR C>T	5	7878179	7878179	C	T	MTRR	c.524C>T	NM_002454.3	NP_002445.2:p.(Ser175Leu)	NC_000005.9:g.7878179C>T	(Likely) benign	2 labs	8645546614
14:23868065 MYH6 T>G	14	23868065	23868065	T	G	MYH6	c.1763A>C	NM_002471.4	NP_002462.2:p.(Asp588Ala)	NC_000014.8:g.23868065T>G	(Likely) benign	6 labs	864fe4bc04
10:75802896 VCL C>T	10	75802896	75802896	C	T	VCL	c.224C>T	NM_014000.3	NP_054706.1:p.(Pro75Leu)	NC_000010.10:g.75802896C>T	VUS	2 labs	88180ef739
2:179553805 TTN G>A	2	179553805	179553805	G	A	TTN	c.32070C>T	NM_001267550.2	NP_001254479.2:p.(Val10690=)	NC_000002.11:g.179553805G>A	(Likely) benign	5 labs	86541a2b50
6:3113491 RIPK1 C>T	6	3113491	3113491	C	T	RIPK1	c.1934C>T	NM_003804.6	NP_003795.2:p.(Thr645Met)	NC_000006.11:g.3113491C>T	(Likely) pathogenic	2 labs	8655654f21
13:32914760 BRCA2 CAT>C	13	32914760	32914763	CAT	C	BRCA2	c.6270_6271del	NM_000059.4	NP_000050.3:p.(His2090GlnfsTer9)	NC_000013.10:g.32914762_32914763del	(Likely) pathogenic	2 labs	8657d38a37
14:23901078 MYH7 G>A	14	23901078	23901078	G	A	MYH7	c.531C>T	NM_000257.4	NP_000248.2:p.(Thr177=)	NC_000014.8:g.23901078G>A	(Likely) benign	3 labs	86655f21e1
10:43615142 RET C>G	10	43615142	43615142	C	G	RET	c.2556C>G	NM_020975.6	NP_066124.1:p.(Ile852Met)	NC_000010.10:g.43615142C>G	VUS	3 labs	867361604a
7:95775848 SLC25A13 TA>T	7	95775848	95775862	TA	T	SLC25A13	c.1455+19del	NM_001160210.2	NP_001153682.1:p.?	NC_000007.13:g.95775862del	(Likely) benign	3 labs	867901bef4
13:32907513 BRCA2 A>ATT	13	32907513	32907515	A	ATT	BRCA2	c.1899_1900insTT	NM_000059.4	NP_000050.3:p.(Ala634LeufsTer11)	NC_000013.10:g.32907514_32907515insTT	(Likely) pathogenic	6 labs	868158fd34
10:102566208 PAX2 C>G	10	102566208	102566208	C	G	PAX2	c.707C>G	NM_003987.5	NP_003978.3:p.(Pro236Arg)	NC_000010.10:g.102566208C>G	VUS	2 labs	86830c4c99
X:12516844 FRMPD4 G>C	X	12516844	12516844	G	C	FRMPD4	c.87G>C	NM_014728.3	NP_055543.2:p.(Trp29Cys)	NC_000023.10:g.12516844G>C	VUS	2 labs	8687c323fd
9:133962930 LAMC3 C>T	9	133962930	133962930	C	T	LAMC3	c.4298C>T	NM_006059.4	NP_006050.3:p.(Thr1433Met)	NC_000009.11:g.133962930C>T	(Likely) benign	2 labs	868ef1f4b0
15:44918690 SPG11 C>T	15	44918690	44918690	C	T	SPG11	c.2083G>A	NM_025137.4	NP_079413.3:p.(Ala695Thr)	NC_000015.9:g.44918690C>T	(Likely) benign	4 labs	869321e2f8
7:150648198 KCNH2 A>G	7	150648198	150648198	A	G	KCNH2	c.1956T>C	NM_000238.4	NP_000229.1:p.(Tyr652=)	NC_000007.13:g.150648198A>G	(Likely) benign	5 labs	869b66cd8b
17:41223094 BRCA1 T>C	17	41223094	41223094	T	C	BRCA1	c.4837A>G	NM_007294.4	NP_009225.1:p.(Ser1613Gly)	NC_000017.10:g.41223094T>C	(Likely) benign	6 labs	869cd63724
3:37067212 MLH1 A>G	3	37067212	37067212	A	G	MLH1	c.1123A>G	NM_001258271.2	NP_001245200.1:p.(Ser375Gly)	NC_000003.11:g.37067212A>G	VUS	2 labs	86a5086cdb
1:168260395 TBX19 T>C	1	168260395	168260395	T	C	TBX19	c.204-3T>C	NM_005149.3	NP_005140.1:p.?	NC_000001.10:g.168260395T>C	(Likely) benign	2 labs	86be7a0bcc
1:55505651 PCSK9 C>T	1	55505651	55505651	C	T	PCSK9	c.141C>T	NM_174936.4	NP_777596.2:p.(Ser47=)	NC_000001.10:g.55505651C>T	(Likely) benign	2 labs	86be8d55d2
13:23904839 SACS G>C	13	23904839	23904839	G	C	SACS	c.13176C>G	NM_014363.6	NP_055178.3:p.(Tyr4392Ter)	NC_000013.10:g.23904839G>C	(Likely) pathogenic	2 labs	86c1704941
1:156106040 LMNA G>A	1	156106040	156106040	G	A	LMNA	c.1193G>A	NM_170707.4	NP_733821.1:p.(Ser398Asn)	NC_000001.10:g.156106040G>A	(Likely) benign	2 labs	86ca73315b
16:23641340 PALB2 G>A	16	23641340	23641340	G	A	PALB2	c.2135C>T	NM_024675.4	NP_078951.2:p.(Ala712Val)	NC_000016.9:g.23641340G>A	(Likely) benign	5 labs	86dbf2efe9
17:56350196 MPO G>A	17	56350196	56350196	G	A	MPO	c.1705C>T	NM_000250.2	NP_000241.1:p.(Arg569Trp)	NC_000017.10:g.56350196G>A	(Likely) pathogenic	4 labs	86ddcd67be
1:200977955 KIF21B C>T	1	200977955	200977955	C	T	KIF21B	c.389G>A	NM_017596.4	NP_060066.2:p.(Arg130Gln)	NC_000001.10:g.200977955C>T	(Likely) benign	2 labs	86e8f4232a
13:20763125 GJB2 G>A	13	20763125	20763125	G	A	GJB2	c.596C>T	NM_004004.6	NP_003995.2:p.(Ser199Phe)	NC_000013.10:g.20763125G>A	(Likely) pathogenic	2 labs	86ec0eb5d5
2:122288462 RNU4ATAC C>T	2	122288462	122288462	C	T	RNU4ATAC	n.7C>T	NR_023343.1		NC_000002.11:g.122288462C>T	VUS	2 labs	86f4f0e0d8
2:73680900 ALMS1 A>G	2	73680900	73680900	A	G	ALMS1	c.7249A>G	NM_015120.4	NP_055935.4:p.(Ser2417Gly)	NC_000002.11:g.73680900A>G	VUS	2 labs	8706b1aa91
17:29533255 NF1 T>A	17	29533255	29533255	T	A	NF1	c.1261-3T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533255T>A	(Likely) benign	2 labs	870b8ce326
7:128478439 FLNC G>A	7	128478439	128478439	G	A	FLNC	c.1166G>A	NM_001458.5	NP_001449.3:p.(Gly389Asp)	NC_000007.13:g.128478439G>A	VUS	3 labs	8710ad4572
2:179448499 TTN A>G	2	179448499	179448499	A	G	TTN	c.65410T>C	NM_001267550.2	NP_001254479.2:p.(Trp21804Arg)	NC_000002.11:g.179448499A>G	VUS	2 labs	87152563f3
7:117280015 CFTR C>T	7	117280015	117280015	C	T	CFTR	c.3718-2477C>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117280015C>T	(Likely) pathogenic	2 labs	871a12c465
12:76740088 BBS10 G>T	12	76740088	76740088	G	T	BBS10	c.1677C>A	NM_024685.4	NP_078961.3:p.(Tyr559Ter)	NC_000012.11:g.76740088G>T	(Likely) pathogenic	2 labs	872702598b
15:73622063 HCN4 A>G	15	73622063	73622063	A	G	HCN4	c.1441T>C	NM_005477.3	NP_005468.1:p.(Tyr481His)	NC_000015.9:g.73622063A>G	(Likely) pathogenic	4 labs	872a01ab4a
3:14172381 TMEM43 C>T	3	14172381	14172381	C	T	TMEM43	c.222C>T	NM_024334.3	NP_077310.1:p.(Pro74=)	NC_000003.11:g.14172381C>T	(Likely) benign	6 labs	873088e739
1:173802557 DARS2 G>A	1	173802557	173802557	G	A	DARS2	c.536G>A	NM_018122.5	NP_060592.2:p.(Arg179His)	NC_000001.10:g.173802557G>A	(Likely) pathogenic	2 labs	87377fc349
1:145509217 RBM8A C>G	1	145509217	145509217	C	G	RBM8A	c.*6C>G	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145509217C>G	(Likely) pathogenic	4 labs	873af21f76
9:94486443 ROR2 A>G	9	94486443	94486443	A	G	ROR2	c.2333T>C	NM_004560.4	NP_004551.2:p.(Val778Ala)	NC_000009.11:g.94486443A>G	VUS	2 labs	873c972012
8:11407690 BLK C>T	8	11407690	11407690	C	T	BLK	c.391C>T	NM_001715.3	NP_001706.2:p.(Arg131Trp)	NC_000008.10:g.11407690C>T	VUS	4 labs	873cd94a23
13:100959450 PCCA G>A	13	100959450	100959450	G	A	PCCA	c.1289G>A	NM_000282.4	NP_000273.2:p.(Arg430Gln)	NC_000013.10:g.100959450G>A	VUS	2 labs	873f52ee19
17:78084769 GAA G>A	17	78084769	78084769	G	A	GAA	c.1581G>A	NM_000152.5	NP_000143.2:p.(Arg527=)	NC_000017.10:g.78084769G>A	(Likely) benign	3 labs	874430bce0
5:13769257 DNAH5 T>A	5	13769257	13769257	T	A	DNAH5	c.9721-12A>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13769257T>A	(Likely) benign	2 labs	874ae6f17a
7:151483619 PRKAG2 G>A	7	151483619	151483619	G	A	PRKAG2	c.123C>T	NM_016203.4	NP_057287.2:p.(Ser41=)	NC_000007.13:g.151483619G>A	(Likely) benign	5 labs	875e3a4b58
3:47163403 SETD2 A>C	3	47163403	47163403	A	C	SETD2	c.2723T>G	NM_014159.7	NP_054878.5:p.(Leu908Arg)	NC_000003.11:g.47163403A>C	VUS	2 labs	8764704d5f
X:153296363 MECP2 G>A	X	153296363	153296363	G	A	MECP2	c.916C>T	NM_004992.3	NP_004983.1:p.(Arg306Cys)	NC_000023.10:g.153296363G>A	(Likely) pathogenic	4 labs	87656094ab
3:119109769 ARHGAP31 C>T	3	119109769	119109769	C	T	ARHGAP31	c.820C>T	NM_020754.4	NP_065805.2:p.(Pro274Ser)	NC_000003.11:g.119109769C>T	(Likely) benign	2 labs	8765b99c32
5:1294086 TERT C>T	5	1294086	1294086	C	T	TERT	c.915G>A	NM_198253.3	NP_937983.2:p.(Ala305=)	NC_000005.9:g.1294086C>T	(Likely) benign	3 labs	877be034b5
7:151261296 PRKAG2 C>T	7	151261296	151261296	C	T	PRKAG2	c.1452G>A	NM_016203.4	NP_057287.2:p.(Glu484=)	NC_000007.13:g.151261296C>T	(Likely) benign	2 labs	878cb041d6
8:61763620 CHD7 C>T	8	61763620	61763620	C	T	CHD7	c.5564C>T	NM_017780.4	NP_060250.2:p.(Pro1855Leu)	NC_000008.10:g.61763620C>T	VUS	2 labs	8791b9bc87
1:156106932 LMNA A>C	1	156106932	156106932	A	C	LMNA	c.1517A>C	NM_170707.4	NP_733821.1:p.(His506Pro)	NC_000001.10:g.156106932A>C	VUS	3 labs	87a0a52556
19:7184522 INSR A>C	19	7184522	7184522	A	C	INSR	c.779T>G	NM_000208.4	NP_000199.2:p.(Leu260Arg)	NC_000019.9:g.7184522A>C	VUS	2 labs	9e3a5c7c3e
2:136546110 LCT A>G	2	136546110	136546110	A	G	LCT	c.5568T>C	NM_002299.4	NP_002290.2:p.(Ala1856=)	NC_000002.11:g.136546110A>G	(Likely) benign	2 labs	87c26b8e70
19:50916706 POLD1 G>C	19	50916706	50916706	G	C	POLD1	c.2178G>C	NM_001256849.1	NP_001243778.1:p.(Gln726His)	NC_000019.9:g.50916706G>C	(Likely) benign	2 labs	87d3ef3f65
1:97915614 DPYD C>T	1	97915614	97915614	C	T	DPYD	c.1905+1G>A	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.97915614C>T	(Likely) pathogenic	5 labs	87d85adc5a
15:73622033 HCN4 C>T	15	73622033	73622033	C	T	HCN4	c.1471G>A	NM_005477.3	NP_005468.1:p.(Asp491Asn)	NC_000015.9:g.73622033C>T	(Likely) pathogenic	3 labs	87e8c8c639
3:38592513 SCN5A C>T	3	38592513	38592513	C	T	SCN5A	c.5350G>A	NM_001099404.2	NP_001092874.1:p.(Glu1784Lys)	NC_000003.11:g.38592513C>T	(Likely) pathogenic	2 labs	87ed127a49
4:79372930 FRAS1 C>T	4	79372930	79372930	C	T	FRAS1	c.6468C>T	NM_025074.7	NP_079350.5:p.(His2156=)	NC_000004.11:g.79372930C>T	(Likely) benign	2 labs	87efd6ecf2
9:97365720 FBP1 T>C	9	97365720	97365720	T	C	FBP1	c.960A>G	NM_000507.4	NP_000498.2:p.(Gly320=)	NC_000009.11:g.97365720T>C	(Likely) benign	2 labs	87ffa72ac1
15:89417117 ACAN G>A	15	89417117	89417117	G	A	ACAN	c.7378G>A	NM_013227.4	NP_037359.3:p.(Gly2460Arg)	NC_000015.9:g.89417117G>A	VUS	3 labs	880733adc8
10:18789724 CACNB2 T>G	10	18789724	18789724	T	G	CACNB2	c.292-17T>G	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18789724T>G	(Likely) benign	2 labs	880b2279d4
7:33390863 BBS9 GT>G	7	33390863	33390866	GT	G	BBS9	c.1468del	NM_198428.3	NP_940820.1:p.(Tyr490IlefsTer2)	NC_000007.13:g.33390866del	(Likely) pathogenic	2 labs	8813e0fa11
9:139327439 INPP5E A>G	9	139327439	139327439	A	G	INPP5E	c.1248T>C	NM_019892.6	NP_063945.2:p.(Thr416=)	NC_000009.11:g.139327439A>G	(Likely) benign	2 labs	88154c12ae
14:77493764 IRF2BPL CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT>C	14	77493764	77493814	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	C	IRF2BPL	c.342_371del	NM_024496.4	NP_078772.1:p.(Gln118_Gln127del)	NC_000014.8:g.77493785_77493814del	VUS	2 labs	882bc26159
5:133945329 SAR1B T>G	5	133945329	133945329	T	G	SAR1B	c.280A>C	NM_001033503.3	NP_001028675.1:p.(Asn94His)	NC_000005.9:g.133945329T>G	VUS	3 labs	883b1c1904
12:49420816 KMT2D C>T	12	49420816	49420816	C	T	KMT2D	c.14933G>A	NM_003482.4	NP_003473.3:p.(Arg4978His)	NC_000012.11:g.49420816C>T	VUS	2 labs	883f18d02a
14:23893269 MYH7 G>A	14	23893269	23893269	G	A	MYH7	c.2769C>T	NM_000257.4	NP_000248.2:p.(Asn923=)	NC_000014.8:g.23893269G>A	(Likely) benign	5 labs	884164a6ae
1:236917339 ACTN2 C>A	1	236917339	236917339	C	A	ACTN2	c.1932C>A	NM_001103.4	NP_001094.1:p.(Ala644=)	NC_000001.10:g.236917339C>A	(Likely) benign	3 labs	884c3e45a0
X:10437830 MID1 T>C	X	10437830	10437830	T	C	MID1	c.1192A>G	NM_000381.4	NP_000372.1:p.(Thr398Ala)	NC_000023.10:g.10437830T>C	VUS	2 labs	884f88d0cc
15:85366592 ALPK3 T>C	15	85366592	85366592	T	C	ALPK3	c.175T>C	NM_020778.5	NP_065829.4:p.(Ser59Pro)	NC_000015.9:g.85366592T>C	VUS	2 labs	8856ebb4e2
19:11224326 LDLR G>A	19	11224326	11224326	G	A	LDLR	c.1474G>A	NM_000527.5	NP_000518.1:p.(Asp492Asn)	NC_000019.9:g.11224326G>A	(Likely) pathogenic	2 labs	887036be22
7:154429569 DPP6 C>T	7	154429569	154429569	C	T	DPP6	c.666C>T	NM_130797.4	NP_570629.2:p.(Ser222=)	NC_000007.13:g.154429569C>T	(Likely) benign	2 labs	8872211cca
4:183675920 TENM3 A>G	4	183675920	183675920	A	G	TENM3	c.4400A>G	NM_001080477.4	NP_001073946.1:p.(Lys1467Arg)	NC_000004.11:g.183675920A>G	VUS	2 labs	88725bbfa7
18:28660232 DSC2 T>C	18	28660232	28660232	T	C	DSC2	c.1350A>G	NM_004949.5	NP_004940.1:p.(Arg450=)	NC_000018.9:g.28660232T>C	(Likely) benign	5 labs	887385ffe0
2:73679990 ALMS1 T>A	2	73679990	73679990	T	A	ALMS1	c.6339T>A	NM_015120.4	NP_055935.4:p.(Ser2113Arg)	NC_000002.11:g.73679990T>A	(Likely) benign	2 labs	8885ab103e
15:65369951 KBTBD13 A>G	15	65369951	65369951	A	G	KBTBD13	c.798A>G	NM_001101362.3	NP_001094832.1:p.(Glu266=)	NC_000015.9:g.65369951A>G	(Likely) benign	2 labs	8887007578
17:78081665 GAA G>A	17	78081665	78081665	G	A	GAA	c.925G>A	NM_000152.5	NP_000143.2:p.(Gly309Arg)	NC_000017.10:g.78081665G>A	(Likely) pathogenic	3 labs	888dfccb21
4:4864674 MSX1 A>G	4	4864674	4864674	A	G	MSX1	c.716A>G	NM_002448.3	NP_002439.2:p.(Lys239Arg)	NC_000004.11:g.4864674A>G	VUS	2 labs	88bd7d6396
17:78021214 CCDC40 T>C	17	78021214	78021214	T	C	CCDC40	c.676+13T>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78021214T>C	(Likely) benign	2 labs	88c1090f7d
1:237958637 RYR2 ATTAC>A	1	237958637	237958643	ATTAC	A	RYR2	c.13956+9_13956+12del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237958640_237958643del	(Likely) benign	2 labs	88c57093b8
2:179587019 TTN T>C	2	179587019	179587019	T	C	TTN	c.22495A>G	NM_001267550.2	NP_001254479.2:p.(Thr7499Ala)	NC_000002.11:g.179587019T>C	VUS	2 labs	88c9e3328d
9:98224244 PTCH1 C>T	9	98224244	98224244	C	T	PTCH1	c.2399G>A	NM_001083602.3	NP_001077071.1:p.(Gly800Glu)	NC_000009.11:g.98224244C>T	VUS	2 labs	88ee4c3d34
7:56087300 PSPH C>T	7	56087300	56087300	C	T	PSPH	c.268G>A	NM_004577.4	NP_004568.2:p.(Gly90Ser)	NC_000007.13:g.56087300C>T	(Likely) benign	3 labs	88ee716a5a
12:994487 WNK1 G>C	12	994487	994487	G	C	WNK1	c.5297G>C	NM_001184985.2	NP_001171914.1:p.(Cys1766Ser)	NC_000012.11:g.994487G>C	(Likely) benign	3 labs	88f0378adb
12:6094845 VWF G>A	12	6094845	6094845	G	A	VWF	c.6799-14C>T	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6094845G>A	(Likely) benign	2 labs	88fb48f2d1
11:6413285 SMPD1 TC>T	11	6413285	6413291	TC	T	SMPD1	c.996del	NM_000543.5	NP_000534.3:p.(Phe333SerfsTer52)	NC_000011.9:g.6413291del	(Likely) pathogenic	2 labs	891168fcb3
X:153296825 MECP2 G>T	X	153296825	153296825	G	T	MECP2	c.454C>A	NM_004992.4	NP_004983.1:p.(Pro152Thr)	NC_000023.10:g.153296825G>T	(Likely) pathogenic	2 labs	8914b01c96
12:49445189 KMT2D TGGCTCCTCAGGCCGGGGGGACAGGTGC>T	12	49445189	49445233	TGGCTCCTCAGGCCGGGGGGACAGGTGC	T	KMT2D	c.2250_2276del	NM_003482.4	NP_003473.3:p.(Arg755_Pro763del)	NC_000012.11:g.49445207_49445233del	(Likely) benign	2 labs	89202666a6
17:62492582 POLG2 C>T	17	62492582	62492582	C	T	POLG2	c.505G>A	NM_007215.4	NP_009146.2:p.(Ala169Thr)	NC_000017.10:g.62492582C>T	(Likely) benign	2 labs	89253ff37d
1:236894530 ACTN2 C>T	1	236894530	236894530	C	T	ACTN2	c.616-3C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236894530C>T	(Likely) benign	4 labs	8928ee3841
7:153750019 DPP6 C>T	7	153750019	153750019	C	T	DPP6	c.114C>T	NM_130797.4	NP_570629.2:p.(Gly38=)	NC_000007.13:g.153750019C>T	(Likely) benign	2 labs	892f70a7ad
2:179528038 TTN A>C	2	179528038	179528038	A	C	TTN	c.36655T>G	NM_001267550.2	NP_001254479.2:p.(Leu12219Val)	NC_000002.11:g.179528038A>C	(Likely) benign	2 labs	893247f3f7
12:30826937 IPO8 A>T	12	30826937	30826937	A	T	IPO8	c.896T>A	NM_006390.4	NP_006381.2:p.(Val299Glu)	NC_000012.11:g.30826937A>T	VUS	2 labs	8941e2af11
6:7585967 DSP G>C	6	7585967	7585967	G	C	DSP	c.8472G>C	NM_004415.4	NP_004406.2:p.(Gly2824=)	NC_000006.11:g.7585967G>C	(Likely) benign	5 labs	8942e474fc
2:223066853 PAX3 G>A	2	223066853	223066853	G	A	PAX3	c.1230C>T	NM_181457.4	NP_852122.1:p.(Tyr410=)	NC_000002.11:g.223066853G>A	(Likely) benign	2 labs	89683faad6
1:112318869 KCND3 C>T	1	112318869	112318869	C	T	KCND3	c.1798G>A	NM_004980.5	NP_004971.2:p.(Gly600Arg)	NC_000001.10:g.112318869C>T	VUS	2 labs	8972c0bd1c
2:179640849 TTN C>T	2	179640849	179640849	C	T	TTN	c.5742G>A	NM_001267550.2	NP_001254479.2:p.(Ala1914=)	NC_000002.11:g.179640849C>T	(Likely) benign	5 labs	89948113d7
15:63335760 TPM1 A>G	15	63335760	63335760	A	G	TPM1	c.115-466A>G	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63335760A>G	(Likely) benign	2 labs	89974e3e79
16:16291858 ABCC6 G>C	16	16291858	16291858	G	C	ABCC6	c.1338+20C>G	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16291858G>C	(Likely) benign	3 labs	89caa47e1f
3:48637143 UQCRC1 C>T	3	48637143	48637143	C	T	UQCRC1	c.1303G>A	NM_003365.3	NP_003356.2:p.(Glu435Lys)	NC_000003.11:g.48637143C>T	(Likely) benign	2 labs	89cc29c2b4
21:35742799 KCNE2 A>G	21	35742799	35742799	A	G	KCNE2	c.22A>G	NM_172201.2	NP_751951.1:p.(Thr8Ala)	NC_000021.8:g.35742799A>G	(Likely) benign	4 labs	89d7f3815c
17:29661990 NF1 A>G	17	29661990	29661990	A	G	NF1	c.5884A>G	NM_000267.3	NP_000258.1:p.(Ile1962Val)	NC_000017.10:g.29661990A>G	VUS	3 labs	89ed3d3c1a
14:23897120 MYH7 G>A	14	23897120	23897120	G	A	MYH7	c.1579-17C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23897120G>A	(Likely) benign	5 labs	89f85ee904
20:10630973 JAG1 C>T	20	10630973	10630973	C	T	JAG1	c.1156G>A	NM_000214.3	NP_000205.1:p.(Gly386Arg)	NC_000020.10:g.10630973C>T	(Likely) pathogenic	2 labs	8a0cfbb655
X:77244182 ATP7A A>G	X	77244182	77244182	A	G	ATP7A	c.565A>G	NM_000052.7	NP_000043.4:p.(Ile189Val)	NC_000023.10:g.77244182A>G	(Likely) benign	3 labs	8a16547a63
7:6038747 PMS2 G>A	7	6038747	6038747	G	A	PMS2	c.697C>T	NM_000535.7	NP_000526.2:p.(Gln233Ter)	NC_000007.13:g.6038747G>A	(Likely) pathogenic	5 labs	8a1d30c9e9
18:21513888 LAMA3 C>T	18	21513888	21513888	C	T	LAMA3	c.8851C>T	NM_198129.4	NP_937762.2:p.(Arg2951Cys)	NC_000018.9:g.21513888C>T	(Likely) benign	2 labs	8a26a6a538
2:179436937 TTN T>A	2	179436937	179436937	T	A	TTN	c.73922A>T	NM_001267550.2	NP_001254479.2:p.(Glu24641Val)	NC_000002.11:g.179436937T>A	VUS	2 labs	8a3269165f
2:241685184 KIF1A G>C	2	241685184	241685184	G	C	KIF1A	c.3345C>G	NM_001244008.2	NP_001230937.1:p.(Ala1115=)	NC_000002.11:g.241685184G>C	(Likely) benign	4 labs	8a42ddb6cd
2:220427395 OBSL1 G>A	2	220427395	220427395	G	A	OBSL1	c.2682C>T	NM_015311.3	NP_056126.1:p.(Asp894=)	NC_000002.11:g.220427395G>A	(Likely) benign	2 labs	a187552cb5
9:2039776 SMARCA2 A>ACAGCAG	9	2039776	2039817	A	ACAGCAG	SMARCA2	c.702_707dup	NM_003070.5	NP_003061.3:p.(Gln237_Gln238dup)	NC_000009.11:g.2039812_2039817dup	(Likely) benign	5 labs	8a470ec316
19:40900179 PRX TTCC>T	19	40900179	40900202	TTCC	T	PRX	c.4077_4079del	NM_181882.3	NP_870998.2:p.(Glu1361del)	NC_000019.9:g.40900200_40900202del	(Likely) benign	2 labs	8a474e1ec5
16:2103345 TSC2 C>T	16	2103345	2103345	C	T	TSC2	c.228C>T	NM_000548.5	NP_000539.2:p.(His76=)	NC_000016.9:g.2103345C>T	(Likely) benign	3 labs	8a4edfcd85
2:179453945 TTN C>T	2	179453945	179453945	C	T	TTN	c.62507G>A	NM_001267550.2	NP_001254479.2:p.(Arg20836Gln)	NC_000002.11:g.179453945C>T	VUS	4 labs	8a51fa01f3
7:124481183 POT1 C>T	7	124481183	124481183	C	T	POT1	c.1213G>A	NM_015450.3	NP_056265.2:p.(Ala405Thr)	NC_000007.13:g.124481183C>T	(Likely) benign	2 labs	8a533356d3
12:20522325 PDE3A C>T	12	20522325	20522325	C	T	PDE3A	c.107C>T	NM_000921.5	NP_000912.3:p.(Ala36Val)	NC_000012.11:g.20522325C>T	VUS	2 labs	8a602f08f3
20:10621882 JAG1 G>C	20	10621882	10621882	G	C	JAG1	c.2927C>G	NM_000214.3	NP_000205.1:p.(Thr976Arg)	NC_000020.10:g.10621882G>C	VUS	2 labs	8a6a9620bd
19:15295134 NOTCH3 G>A	19	15295134	15295134	G	A	NOTCH3	c.2538C>T	NM_000435.3	NP_000426.2:p.(Cys846=)	NC_000019.9:g.15295134G>A	(Likely) benign	3 labs	8a6b10ffd3
7:128494616 FLNC C>T	7	128494616	128494616	C	T	FLNC	c.6877C>T	NM_001458.5	NP_001449.3:p.(Arg2293Cys)	NC_000007.13:g.128494616C>T	VUS	3 labs	8a70f28df6
11:108188224 ATM A>G	11	108188224	108188224	A	G	ATM	c.6323A>G	NM_000051.4	NP_000042.3:p.(Gln2108Arg)	NC_000011.9:g.108188224A>G	VUS	4 labs	8a74e715b1
17:6606350 SLC13A5 C>T	17	6606350	6606350	C	T	SLC13A5	c.655G>A	NM_177550.5	NP_808218.1:p.(Gly219Arg)	NC_000017.10:g.6606350C>T	(Likely) pathogenic	2 labs	8a7fa97834
6:43571679 POLH T>C	6	43571679	43571679	T	C	POLH	c.815T>C	NM_006502.3	NP_006493.1:p.(Ile272Thr)	NC_000006.11:g.43571679T>C	(Likely) benign	2 labs	8a80a1fe43
6:7565753 DSP C>T	6	7565753	7565753	C	T	DSP	c.939C>T	NM_004415.4	NP_004406.2:p.(Ser313=)	NC_000006.11:g.7565753C>T	(Likely) benign	2 labs	8a82950eb4
2:211421452 CPS1 A>ATCT	2	211421452	211421455	A	ATCT	CPS1	c.-4_-3insTTC	NM_001122633.3	NP_001116105.2:p.?	NC_000002.11:g.211421454_211421455insTTC	(Likely) benign	4 labs	8a853aee01
12:49431726 KMT2D G>A	12	49431726	49431726	G	A	KMT2D	c.9413C>T	NM_003482.4	NP_003473.3:p.(Thr3138Ile)	NC_000012.11:g.49431726G>A	VUS	2 labs	8a90d558f5
11:66282095 BBS1 G>A	11	66282095	66282095	G	A	BBS1	c.378G>A	NM_024649.5	NP_078925.3:p.(Leu126=)	NC_000011.9:g.66282095G>A	(Likely) benign	3 labs	8a90f6ae6b
17:8192377 RANGRF G>T	17	8192377	8192377	G	T	RANGRF	c.181G>T	NM_001177802.2	NP_001171273.1:p.(Glu61Ter)	NC_000017.10:g.8192377G>T	(Likely) benign	2 labs	8a9d3dd194
6:152558008 SYNE1 C>T	6	152558008	152558008	C	T	SYNE1	c.20143G>A	NM_182961.4	NP_892006.3:p.(Val6715Met)	NC_000006.11:g.152558008C>T	VUS	2 labs	8a9dcb41ff
1:11907492 NPPA A>G	1	11907492	11907492	A	G	NPPA	c.128T>C	NM_006172.4	NP_006163.1:p.(Leu43Ser)	NC_000001.10:g.11907492A>G	VUS	2 labs	8aa1995652
1:55518316 PCSK9 C>T	1	55518316	55518316	C	T	PCSK9	c.658-7C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518316C>T	(Likely) benign	2 labs	8abc8fd291
12:40631791 LRRK2 T>C	12	40631791	40631791	T	C	LRRK2	c.457T>C	NM_198578.4	NP_940980.4:p.(Leu153=)	NC_000012.11:g.40631791T>C	(Likely) benign	3 labs	8ac8b8430c
7:94056984 COL1A2 G>A	7	94056984	94056984	G	A	COL1A2	c.3313G>A	NM_000089.4	NP_000080.2:p.(Gly1105Ser)	NC_000007.13:g.94056984G>A	VUS	2 labs	8ae1808e28
4:120107098 MYOZ2 G>GT	4	120107098	120107108	G	GT	MYOZ2	c.561-13dup	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120107108dup	(Likely) benign	2 labs	8ae8b6129e
15:45404066 DUOX2 G>A	15	45404066	45404066	G	A	DUOX2	c.413C>T	NM_014080.5	NP_054799.4:p.(Pro138Leu)	NC_000015.9:g.45404066G>A	(Likely) benign	3 labs	8af3b2ec7d
1:237881770 RYR2 C>T	1	237881770	237881770	C	T	RYR2	c.10503C>T	NM_001035.3	NP_001026.2:p.(Thr3501=)	NC_000001.10:g.237881770C>T	(Likely) benign	3 labs	8b0bfe0252
14:54417522 BMP4 A>G	14	54417522	54417522	A	G	BMP4	c.455T>C	NM_001202.6	NP_001193.2:p.(Val152Ala)	NC_000014.8:g.54417522A>G	(Likely) benign	3 labs	8b2e428847
1:78394996 NEXN G>A	1	78394996	78394996	G	A	NEXN	c.865-5G>A	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78394996G>A	(Likely) benign	2 labs	8b386fb934
2:179463252 TTN C>T	2	179463252	179463252	C	T	TTN	c.57092G>A	NM_001267550.2	NP_001254479.2:p.(Gly19031Glu)	NC_000002.11:g.179463252C>T	VUS	2 labs	8b42a4e757
X:32361266 DMD A>G	X	32361266	32361266	A	G	DMD	c.5724T>C	NM_004006.3	NP_003997.2:p.(Asp1908=)	NC_000023.10:g.32361266A>G	(Likely) benign	3 labs	8b4c61d1b4
2:98994134 CNGA3 A>G	2	98994134	98994134	A	G	CNGA3	c.102-16A>G	NM_001298.3	NP_001289.1:p.?	NC_000002.11:g.98994134A>G	(Likely) benign	2 labs	8b5107ec1b
3:9976205 CRELD1 G>A	3	9976205	9976205	G	A	CRELD1	c.83G>A	NM_015513.6	NP_056328.3:p.(Trp28Ter)	NC_000003.11:g.9976205G>A	VUS	2 labs	8b56f7d0dd
19:7618859 PNPLA6 G>A	19	7618859	7618859	G	A	PNPLA6	c.2389G>A	NM_001166111.2	NP_001159583.1:p.(Val797Met)	NC_000019.9:g.7618859G>A	(Likely) benign	4 labs	8b60ddd147
13:32937331 BRCA2 T>A	13	32937331	32937331	T	A	BRCA2	c.7992T>A	NM_000059.4	NP_000050.3:p.(Ile2664=)	NC_000013.10:g.32937331T>A	(Likely) benign	5 labs	8b6b092239
1:237054569 MTR A>G	1	237054569	237054569	A	G	MTR	c.3144A>G	NM_000254.3	NP_000245.2:p.(Ala1048=)	NC_000001.10:g.237054569A>G	(Likely) benign	2 labs	8b6bd2afed
2:179590159 TTN C>T	2	179590159	179590159	C	T	TTN	c.20772G>A	NM_001267550.2	NP_001254479.2:p.(Lys6924=)	NC_000002.11:g.179590159C>T	(Likely) benign	6 labs	8b7a0bf829
13:110833702 COL4A1 C>T	13	110833702	110833702	C	T	COL4A1	c.2130G>A	NM_001845.6	NP_001836.3:p.(Pro710=)	NC_000013.10:g.110833702C>T	(Likely) benign	4 labs	8b89acacb2
2:179400585 TTN GA>G	2	179400585	179400600	GA	G	TTN	c.100766-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400600del	(Likely) benign	3 labs	8b90987efc
16:53337959 CHD9 C>A	16	53337959	53337959	C	A	CHD9	c.6041C>A	NM_025134.7	NP_079410.4:p.(Pro2014Gln)	NC_000016.9:g.53337959C>A	VUS	2 labs	8bb7310469
5:172660523 NKX2-5 T>A	5	172660523	172660523	T	A	NKX2-5	c.335-19A>T	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523T>A	(Likely) benign	2 labs	8bca952237
3:49760039 GMPPB T>C	3	49760039	49760039	T	C	GMPPB	c.551A>G	NM_013334.4	NP_037466.3:p.(Gln184Arg)	NC_000003.11:g.49760039T>C	(Likely) benign	2 labs	8bd007a043
11:108198384 ATM C>G	11	108198384	108198384	C	G	ATM	c.6988C>G	NM_000051.4	NP_000042.3:p.(Leu2330Val)	NC_000011.9:g.108198384C>G	(Likely) benign	6 labs	8be4dfddd5
10:68940293 CTNNA3 C>T	10	68940293	68940293	C	T	CTNNA3	c.844-15G>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68940293C>T	(Likely) benign	4 labs	8bf4e01f17
8:100887648 VPS13B A>AGAT	8	100887648	100887652	A	AGAT	VPS13B	c.11825_11827dup	NM_017890.5	NP_060360.3:p.(Asp3942dup)	NC_000008.10:g.100887650_100887652dup	VUS	3 labs	8bfb5ac35c
3:48623124 COL7A1 G>A	3	48623124	48623124	G	A	COL7A1	c.3830C>T	NM_000094.4	NP_000085.1:p.(Pro1277Leu)	NC_000003.11:g.48623124G>A	(Likely) benign	2 labs	8c14c5e671
3:164783165 SI T>C	3	164783165	164783165	T	C	SI	c.691A>G	NM_001041.4	NP_001032.2:p.(Thr231Ala)	NC_000003.11:g.164783165T>C	(Likely) benign	2 labs	8c20f8b165
X:69255284 EDA G>A	X	69255284	69255284	G	A	EDA	c.1001G>A	NM_001399.5	NP_001390.1:p.(Arg334His)	NC_000023.10:g.69255284G>A	(Likely) benign	3 labs	8c333d4600
1:156085059 LMNA A>G	1	156085059	156085059	A	G	LMNA	c.350A>G	NM_170707.4	NP_733821.1:p.(Lys117Arg)	NC_000001.10:g.156085059A>G	VUS	2 labs	8c44680486
16:3778387 CREBBP T>G	16	3778387	3778387	T	G	CREBBP	c.6661A>C	NM_004380.3	NP_004371.2:p.(Met2221Leu)	NC_000016.9:g.3778387T>G	(Likely) benign	2 labs	8c4ae0408d
12:52867339 KRT6C C>T	12	52867339	52867339	C	T	KRT6C	c.183G>A	NM_173086.5	NP_775109.2:p.(Leu61=)	NC_000012.11:g.52867339C>T	(Likely) benign	2 labs	8c58a4eff4
3:52486122 TNNC1 C>T	3	52486122	52486122	C	T	TNNC1	c.202G>A	NM_003280.3	NP_003271.1:p.(Gly68Ser)	NC_000003.11:g.52486122C>T	VUS	2 labs	8c5a43ceb3
20:25289111 ABHD12 G>A	20	25289111	25289111	G	A	ABHD12	c.769C>T	NM_001042472.3	NP_001035937.1:p.(Arg257Trp)	NC_000020.10:g.25289111G>A	VUS	3 labs	8c5c0c1553
2:179594295 TTN TA>T	2	179594295	179594298	TA	T	TTN	c.18590-3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179594298del	(Likely) benign	3 labs	8c5f7e3104
13:32930634 BRCA2 G>A	13	32930634	32930634	G	A	BRCA2	c.7505G>A	NM_000059.4	NP_000050.3:p.(Arg2502His)	NC_000013.10:g.32930634G>A	(Likely) benign	3 labs	8c6ebf144b
7:103151436 RELN T>C	7	103151436	103151436	T	C	RELN	c.8136A>G	NM_005045.4	NP_005036.2:p.(Leu2712=)	NC_000007.13:g.103151436T>C	(Likely) benign	3 labs	8c85ab1618
10:112590956 RBM20 C>T	10	112590956	112590956	C	T	RBM20	c.3573+16C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112590956C>T	(Likely) benign	2 labs	8c8e65488a
19:50763886 MYH14 C>T	19	50763886	50763886	C	T	MYH14	c.2355-17C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50763886C>T	(Likely) benign	2 labs	8c8f9478b4
2:179434249 TTN C>T	2	179434249	179434249	C	T	TTN	c.76610G>A	NM_001267550.2	NP_001254479.2:p.(Arg25537His)	NC_000002.11:g.179434249C>T	VUS	2 labs	8c9076c66e
11:6412931 SMPD1 T>C	11	6412931	6412931	T	C	SMPD1	c.636T>C	NM_000543.5	NP_000534.3:p.(Asp212=)	NC_000011.9:g.6412931T>C	(Likely) benign	3 labs	8c911b7b73
7:117180324 CFTR G>A	7	117180324	117180324	G	A	CFTR	c.1040G>A	NM_000492.4	NP_000483.3:p.(Arg347His)	NC_000007.13:g.117180324G>A	(Likely) pathogenic	3 labs	8c94e991b0
16:83941726 MLYCD C>T	16	83941726	83941726	C	T	MLYCD	c.642-5C>T	NM_012213.3	NP_036345.2:p.?	NC_000016.9:g.83941726C>T	(Likely) benign	3 labs	8c964866dc
13:32914653 BRCA2 CT>C	13	32914653	32914656	CT	C	BRCA2	c.6164del	NM_000059.4	NP_000050.3:p.(Phe2055SerfsTer15)	NC_000013.10:g.32914656del	(Likely) pathogenic	3 labs	8ca2cbbf69
19:45452024 APOC2 A>C	19	45452024	45452024	A	C	APOC2	c.122A>C	NM_000483.5	NP_000474.2:p.(Lys41Thr)	NC_000019.9:g.45452024A>C	(Likely) pathogenic	2 labs	8ca53c2eaa
5:167944848 RARS1 G>T	5	167944848	167944848	G	T	RARS1	c.1654G>T	NM_002887.4	NP_002878.2:p.(Glu552Ter)	NC_000005.9:g.167944848G>T	(Likely) pathogenic	3 labs	8cb921e379
2:179499985 TTN A>G	2	179499985	179499985	A	G	TTN	c.41931T>C	NM_001267550.2	NP_001254479.2:p.(Tyr13977=)	NC_000002.11:g.179499985A>G	(Likely) benign	5 labs	8cc2fba3fc
14:23866771 MYH6 G>A	14	23866771	23866771	G	A	MYH6	c.1943C>T	NM_002471.4	NP_002462.2:p.(Thr648Met)	NC_000014.8:g.23866771G>A	VUS	2 labs	8cd6c3f0bc
11:116701354 APOC3 G>A	11	116701354	116701354	G	A	APOC3	c.55+1G>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701354G>A	VUS	2 labs	8cd70ee650
1:156105904 LMNA G>A	1	156105904	156105904	G	A	LMNA	c.1149G>A	NM_170707.4	NP_733821.1:p.(Glu383=)	NC_000001.10:g.156105904G>A	(Likely) benign	4 labs	8cdadf03c7
6:112508697 LAMA4 A>C	6	112508697	112508697	A	C	LAMA4	c.921T>G	NM_001105206.3	NP_001098676.2:p.(Ala307=)	NC_000006.11:g.112508697A>C	(Likely) benign	2 labs	8cdcb1751d
14:23895180 MYH7 G>A	14	23895180	23895180	G	A	MYH7	c.2155C>T	NM_000257.4	NP_000248.2:p.(Arg719Trp)	NC_000014.8:g.23895180G>A	(Likely) pathogenic	2 labs	8ce2022721
9:136409580 ADAMTSL2 T>G	9	136409580	136409580	T	G	ADAMTSL2	c.683-12T>G	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136409580T>G	(Likely) benign	3 labs	8cf7dbbfb3
3:37061871 MLH1 G>A	3	37061871	37061871	G	A	MLH1	c.955G>A	NM_000249.4	NP_000240.1:p.(Glu319Lys)	NC_000003.11:g.37061871G>A	VUS	3 labs	8cff77af78
19:11221414 LDLR G>A	19	11221414	11221414	G	A	LDLR	c.1027G>A	NM_000527.5	NP_000518.1:p.(Gly343Ser)	NC_000019.9:g.11221414G>A	(Likely) pathogenic	4 labs	8d07a5b39f
9:79938069 VPS13A G>A	9	79938069	79938069	G	A	VPS13A	c.5917G>A	NM_033305.3	NP_150648.2:p.(Val1973Ile)	NC_000009.11:g.79938069G>A	(Likely) benign	2 labs	8d09e174ad
16:23614792 PALB2 G>C	16	23614792	23614792	G	C	PALB2	c.3549C>G	NM_024675.4	NP_078951.2:p.(Tyr1183Ter)	NC_000016.9:g.23614792G>C	(Likely) pathogenic	3 labs	8d0c190755
10:92679985 ANKRD1 C>G	10	92679985	92679985	C	G	ANKRD1	c.148G>C	NM_014391.3	NP_055206.2:p.(Ala50Pro)	NC_000010.10:g.92679985C>G	(Likely) benign	3 labs	8d15573aed
11:17542439 USH1C T>C	11	17542439	17542439	T	C	USH1C	c.1188A>G	NM_153676.4	NP_710142.1:p.(Pro396=)	NC_000011.9:g.17542439T>C	(Likely) benign	2 labs	8d1bbba97f
2:48010537 MSH6 T>G	2	48010537	48010537	T	G	MSH6	c.165T>G	NM_000179.3	NP_000170.1:p.(Pro55=)	NC_000002.11:g.48010537T>G	(Likely) benign	2 labs	8d2556c7be
2:179489223 TTN A>G	2	179489223	179489223	A	G	TTN	c.44784T>C	NM_001267550.2	NP_001254479.2:p.(Asp14928=)	NC_000002.11:g.179489223A>G	(Likely) benign	2 labs	8d26133a51
5:13829615 DNAH5 A>G	5	13829615	13829615	A	G	DNAH5	c.6444+4T>C	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13829615A>G	(Likely) benign	2 labs	8d26c515a6
12:133250250 POLE G>C	12	133250250	133250250	G	C	POLE	c.1270C>G	NM_006231.4	NP_006222.2:p.(Leu424Val)	NC_000012.11:g.133250250G>C	(Likely) pathogenic	2 labs	8d273c46d9
5:176637850 NSD1 C>T	5	176637850	176637850	C	T	NSD1	c.2450C>T	NM_022455.5	NP_071900.2:p.(Ser817Phe)	NC_000005.9:g.176637850C>T	(Likely) benign	2 labs	8d3fced384
1:74901765 TNNI3K C>T	1	74901765	74901765	C	T	TNNI3K	c.1774C>T	NM_015978.3	NP_057062.1:p.(His592Tyr)	NC_000001.10:g.74901765C>T	(Likely) pathogenic	2 labs	8d42dc2d86
13:52515354 ATP7B A>G	13	52515354	52515354	A	G	ATP7B	c.3419T>C	NM_000053.4	NP_000044.2:p.(Val1140Ala)	NC_000013.10:g.52515354A>G	(Likely) benign	4 labs	8d4c9e3e5b
5:149359991 SLC26A2 C>T	5	149359991	149359991	C	T	SLC26A2	c.835C>T	NM_000112.4	NP_000103.2:p.(Arg279Trp)	NC_000005.9:g.149359991C>T	(Likely) pathogenic	5 labs	8d5ff7bdf5
6:112450238 LAMA4 A>G	6	112450238	112450238	A	G	LAMA4	c.4173T>C	NM_001105206.3	NP_001098676.2:p.(Tyr1391=)	NC_000006.11:g.112450238A>G	(Likely) benign	4 labs	8d601d5cbf
2:220417266 OBSL1 C>T	2	220417266	220417266	C	T	OBSL1	c.5300G>A	NM_015311.3	NP_056126.1:p.(Arg1767Gln)	NC_000002.11:g.220417266C>T	(Likely) benign	2 labs	8d6b3f9d48
3:8775661 CAV3 C>T	3	8775661	8775661	C	T	CAV3	c.99C>T	NM_033337.3	NP_203123.1:p.(Asn33=)	NC_000003.11:g.8775661C>T	(Likely) benign	4 labs	8d6c39ef7e
9:124062405 GSN G>T	9	124062405	124062405	G	T	GSN	c.100-1836G>T	NM_001127663.2	NP_001121135.2:p.?	NC_000009.11:g.124062405G>T	VUS	2 labs	8d6faa5b93
X:53589825 HUWE1 T>C	X	53589825	53589825	T	C	HUWE1	c.7171A>G	NM_031407.7	NP_113584.3:p.(Ser2391Gly)	NC_000023.10:g.53589825T>C	VUS	2 labs	8d7c8493d7
18:29126592 DSG2 C>T	18	29126592	29126592	C	T	DSG2	c.3243C>T	NM_001943.5	NP_001934.2:p.(Val1081=)	NC_000018.9:g.29126592C>T	(Likely) benign	6 labs	8d846893ab
8:100874030 VPS13B G>A	8	100874030	100874030	G	A	VPS13B	c.11146G>A	NM_017890.5	NP_060360.3:p.(Ala3716Thr)	NC_000008.10:g.100874030G>A	(Likely) benign	5 labs	8d8f558356
13:113770068 F7 C>T	13	113770068	113770068	C	T	F7	c.525C>T	NM_000131.4	NP_000122.1:p.(His175=)	NC_000013.10:g.113770068C>T	(Likely) benign	2 labs	8d8fba390b
11:108181114 ATM A>G	11	108181114	108181114	A	G	ATM	c.5918+72A>G	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108181114A>G	(Likely) benign	2 labs	a651d7ed12
11:65978677 PACS1 C>T	11	65978677	65978677	C	T	PACS1	c.607C>T	NM_018026.4	NP_060496.2:p.(Arg203Trp)	NC_000011.9:g.65978677C>T	(Likely) pathogenic	6 labs	8d97b9fb90
1:43223453 P3H1 C>A	1	43223453	43223453	C	A	P3H1	c.1080+1G>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43223453C>A	(Likely) pathogenic	2 labs	8d9fa14be8
6:6248653 F13A1 C>T	6	6248653	6248653	C	T	F13A1	c.691-1G>A	NM_000129.4	NP_000120.2:p.?	NC_000006.11:g.6248653C>T	(Likely) pathogenic	2 labs	8daf0e4882
18:28650748 DSC2 A>C	18	28650748	28650748	A	C	DSC2	c.2194T>G	NM_004949.5	NP_004940.1:p.(Leu732Val)	NC_000018.9:g.28650748A>C	(Likely) benign	5 labs	8db095b4b2
11:47371333 MYBPC3 C>T	11	47371333	47371333	C	T	MYBPC3	c.646G>A	NM_000256.3	NP_000247.2:p.(Ala216Thr)	NC_000011.9:g.47371333C>T	(Likely) benign	3 labs	8db85b4199
16:81953081 PLCG2 T>C	16	81953081	81953081	T	C	PLCG2	c.2055-8T>C	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81953081T>C	(Likely) benign	3 labs	8dbf12b048
7:92734103 SAMD9 C>T	7	92734103	92734103	C	T	SAMD9	c.1308G>A	NM_017654.4	NP_060124.2:p.(Trp436Ter)	NC_000007.13:g.92734103C>T	VUS	2 labs	8dcbe72e11
16:68771345 CDH1 G>A	16	68771345	68771345	G	A	CDH1	c.27G>A	NM_004360.5	NP_004351.1:p.(Ser9=)	NC_000016.9:g.68771345G>A	(Likely) benign	2 labs	8dd4f30bc7
7:124486980 POT1 T>C	7	124486980	124486980	T	C	POT1	c.1006+16A>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124486980T>C	(Likely) benign	2 labs	8de44ed2e6
6:152737573 SYNE1 C>T	6	152737573	152737573	C	T	SYNE1	c.5999G>A	NM_182961.4	NP_892006.3:p.(Arg2000Lys)	NC_000006.11:g.152737573C>T	(Likely) benign	5 labs	8de5464ca0
1:24194773 FUCA1 G>A	1	24194773	24194773	G	A	FUCA1	c.4C>T	NM_000147.5	NP_000138.2:p.(Arg2Trp)	NC_000001.10:g.24194773G>A	(Likely) benign	2 labs	8df94a553b
X:129139269 BCORL1 G>A	X	129139269	129139269	G	A	BCORL1	c.62G>A	NM_021946.5	NP_068765.3:p.(Arg21His)	NC_000023.10:g.129139269G>A	VUS	2 labs	8e01faad0b
15:89399927 ACAN G>C	15	89399927	89399927	G	C	ACAN	c.4111G>C	NM_013227.4	NP_037359.3:p.(Asp1371His)	NC_000015.9:g.89399927G>C	VUS	2 labs	8e03146557
8:65528773 CYP7B1 ATTGT>A	8	65528773	65528779	ATTGT	A	CYP7B1	c.321_324del	NM_004820.5	NP_004811.1:p.(Lys107AsnfsTer2)	NC_000008.10:g.65528776_65528779del	(Likely) pathogenic	3 labs	8e0926eae9
3:8787301 CAV3 C>A	3	8787301	8787301	C	A	CAV3	c.204C>A	NM_033337.3	NP_203123.1:p.(Ser68=)	NC_000003.11:g.8787301C>A	(Likely) benign	5 labs	8e0b220d02
10:73550117 CDH23 C>G	10	73550117	73550117	C	G	CDH23	c.5996C>G	NM_022124.6	NP_071407.4:p.(Thr1999Ser)	NC_000010.10:g.73550117C>G	(Likely) benign	2 labs	8e0bd7808a
16:88872145 CDT1 T>C	16	88872145	88872145	T	C	CDT1	c.700T>C	NM_030928.4	NP_112190.2:p.(Cys234Arg)	NC_000016.9:g.88872145T>C	(Likely) benign	3 labs	8e0c0e9573
11:125851181 CDON G>A	11	125851181	125851181	G	A	CDON	c.3039C>T	NM_001243597.2	NP_001230526.1:p.(Asn1013=)	NC_000011.9:g.125851181G>A	(Likely) benign	2 labs	8e211ccbb2
16:68863710 CDH1 C>T	16	68863710	68863710	C	T	CDH1	c.2439+10C>T	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68863710C>T	(Likely) benign	2 labs	8e24ee6fbf
5:39364554 C9 G>A	5	39364554	39364554	G	A	C9	c.13C>T	NM_001737.5	NP_001728.1:p.(Arg5Trp)	NC_000005.9:g.39364554G>A	(Likely) benign	2 labs	8e30085d45
2:26457222 HADHA T>C	2	26457222	26457222	T	C	HADHA	c.316A>G	NM_000182.5	NP_000173.2:p.(Met106Val)	NC_000002.11:g.26457222T>C	VUS	2 labs	8e35634a4f
14:23863383 MYH6 C>T	14	23863383	23863383	C	T	MYH6	c.2579G>A	NM_002471.4	NP_002462.2:p.(Arg860His)	NC_000014.8:g.23863383C>T	(Likely) benign	3 labs	8e40329cd9
11:108129750 ATM G>A	11	108129750	108129750	G	A	ATM	c.2414G>A	NM_000051.4	NP_000042.3:p.(Arg805Gln)	NC_000011.9:g.108129750G>A	VUS	2 labs	8e46a056a7
16:88501034 ZNF469 G>C	16	88501034	88501034	G	C	ZNF469	c.7156G>C	NM_001367624.2	NP_001354553.1:p.(Gly2386Arg)	NC_000016.9:g.88501034G>C	(Likely) benign	2 labs	8e5fa9114f
16:88801621 PIEZO1 G>A	16	88801621	88801621	G	A	PIEZO1	c.1591C>T	NM_001142864.4	NP_001136336.2:p.(Arg531Cys)	NC_000016.9:g.88801621G>A	VUS	2 labs	8e632ba0d9
1:228565629 OBSCN C>A	1	228565629	228565629	C	A	OBSCN	c.23504-3C>A	NM_001098623.2	NP_001092093.2:p.?	NC_000001.10:g.228565629C>A	VUS	2 labs	8e648ad9eb
7:117170990 CFTR GA>G	7	117170990	117170992	GA	G	CFTR	c.313del	NM_000492.4	NP_000483.3:p.(Ile105SerfsTer2)	NC_000007.13:g.117170992del	(Likely) pathogenic	2 labs	8e65f54518
22:29085138 CHEK2 G>A	22	29085138	29085138	G	A	CHEK2	c.1656C>T	NM_001005735.2	NP_001005735.1:p.(Pro552=)	NC_000022.10:g.29085138G>A	(Likely) benign	2 labs	8e6fdfce10
10:102770327 PDZD7 A>G	10	102770327	102770327	A	G	PDZD7	c.2319T>C	NM_001195263.2	NP_001182192.1:p.(Arg773=)	NC_000010.10:g.102770327A>G	(Likely) benign	2 labs	8e7b6d540d
8:1808256 ARHGEF10 A>G	8	1808256	1808256	A	G	ARHGEF10	c.387A>G	NM_014629.4	NP_055444.2:p.(Val129=)	NC_000008.10:g.1808256A>G	(Likely) benign	2 labs	8e7c121929
10:122626152 WDR11 G>A	10	122626152	122626152	G	A	WDR11	c.1066G>A	NM_018117.12	NP_060587.8:p.(Val356Ile)	NC_000010.10:g.122626152G>A	(Likely) benign	3 labs	8e7d8b8999
17:39912145 JUP T>A	17	39912145	39912145	T	A	JUP	c.2089A>T	NM_002230.4	NP_002221.1:p.(Met697Leu)	NC_000017.10:g.39912145T>A	(Likely) benign	5 labs	8e8268b821
2:220430203 OBSL1 C>T	2	220430203	220430203	C	T	OBSL1	c.2168G>A	NM_015311.3	NP_056126.1:p.(Arg723Lys)	NC_000002.11:g.220430203C>T	(Likely) benign	2 labs	8e97aa0b34
17:41258470 BRCA1 T>C	17	41258470	41258470	T	C	BRCA1	c.212+3A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258470T>C	(Likely) pathogenic	2 labs	8e9cf0eb59
12:112915524 PTPN11 A>G	12	112915524	112915524	A	G	PTPN11	c.923A>G	NM_002834.5	NP_002825.3:p.(Asn308Ser)	NC_000012.11:g.112915524A>G	(Likely) pathogenic	4 labs	8e9f41acce
3:38674657 SCN5A C>T	3	38674657	38674657	C	T	SCN5A	c.142G>A	NM_198056.3	NP_932173.1:p.(Glu48Lys)	NC_000003.11:g.38674657C>T	VUS	2 labs	8eaabd13b3
3:46902228 MYL3 G>A	3	46902228	46902228	G	A	MYL3	c.245C>T	NM_000258.3	NP_000249.1:p.(Ala82Val)	NC_000003.11:g.46902228G>A	VUS	2 labs	8ec11ba01a
12:48380682 COL2A1 G>A	12	48380682	48380682	G	A	COL2A1	c.1366-11C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48380682G>A	(Likely) benign	2 labs	8ec250d19a
2:48026861 MSH6 C>T	2	48026861	48026861	C	T	MSH6	c.1739C>T	NM_000179.3	NP_000170.1:p.(Ser580Leu)	NC_000002.11:g.48026861C>T	VUS	3 labs	8eded86448
1:23208925 EPHB2 G>A	1	23208925	23208925	G	A	EPHB2	c.1377G>A	NM_004442.7	NP_004433.2:p.(Pro459=)	NC_000001.10:g.23208925G>A	(Likely) benign	2 labs	8eece744be
5:131721204 SLC22A5 T>C	5	131721204	131721204	T	C	SLC22A5	c.824+13T>C	NM_003060.4	NP_003051.1:p.?	NC_000005.9:g.131721204T>C	(Likely) benign	2 labs	8ef691e570
22:19951207 COMT C>G	22	19951207	19951207	C	G	COMT	c.408C>G	NM_000754.4	NP_000745.1:p.(Leu136=)	NC_000022.10:g.19951207C>G	(Likely) benign	4 labs	8eff84c320
17:41209130 BRCA1 T>A	17	41209130	41209130	T	A	BRCA1	c.5216A>T	NM_007294.4	NP_009225.1:p.(Asp1739Val)	NC_000017.10:g.41209130T>A	(Likely) pathogenic	3 labs	8f0333e5ab
9:32986039 APTX A>AC	9	32986039	32986040	A	AC	APTX	c.484-12_484-11insG	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insC	(Likely) benign	2 labs	8f06f4589d
3:33161898 CRTAP C>T	3	33161898	33161898	C	T	CRTAP	c.534C>T	NM_006371.5	NP_006362.1:p.(Asp178=)	NC_000003.11:g.33161898C>T	(Likely) benign	2 labs	8f1588fc07
3:38622726 SCN5A C>T	3	38622726	38622726	C	T	SCN5A	c.2924G>A	NM_001099404.2	NP_001092874.1:p.(Arg975Gln)	NC_000003.11:g.38622726C>T	VUS	3 labs	8f17a7ec76
5:148407323 SH3TC2 G>A	5	148407323	148407323	G	A	SH3TC2	c.1972C>T	NM_024577.4	NP_078853.2:p.(Arg658Cys)	NC_000005.9:g.148407323G>A	(Likely) pathogenic	2 labs	8f19ca144e
14:23851739 MYH6 G>C	14	23851739	23851739	G	C	MYH6	c.5694C>G	NM_002471.4	NP_002462.2:p.(Phe1898Leu)	NC_000014.8:g.23851739G>C	VUS	4 labs	8f1be74070
13:32907407 BRCA2 A>G	13	32907407	32907407	A	G	BRCA2	c.1792A>G	NM_000059.4	NP_000050.3:p.(Thr598Ala)	NC_000013.10:g.32907407A>G	(Likely) benign	7 labs	8f2d6ee5dd
2:179438755 TTN A>C	2	179438755	179438755	A	C	TTN	c.72104T>G	NM_001267550.2	NP_001254479.2:p.(Phe24035Cys)	NC_000002.11:g.179438755A>C	VUS	2 labs	8f537af869
15:45408699 DUOXA2 C>T	15	45408699	45408699	C	T	DUOXA2	c.341-15C>T	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45408699C>T	(Likely) benign	2 labs	8f5756f2ee
19:6702598 C3 G>A	19	6702598	6702598	G	A	C3	c.2246-8C>T	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6702598G>A	(Likely) benign	2 labs	8f58270e3f
1:227170648 COQ8A C>T	1	227170648	227170648	C	T	COQ8A	c.993C>T	NM_020247.5	NP_064632.2:p.(Phe331=)	NC_000001.10:g.227170648C>T	(Likely) benign	3 labs	8f5ba8a818
11:17598187 OTOG G>A	11	17598187	17598187	G	A	OTOG	c.2597+10G>A	NM_001277269.2	NP_001264198.1:p.?	NC_000011.9:g.17598187G>A	(Likely) benign	2 labs	8f5ee41751
18:72999359 TSHZ1 T>C	18	72999359	72999359	T	C	TSHZ1	c.1862T>C	NM_005786.6	NP_005777.3:p.(Leu621Pro)	NC_000018.9:g.72999359T>C	(Likely) benign	2 labs	8f6e13cc0b
2:179399677 TTN C>T	2	179399677	179399677	C	T	TTN	c.101665G>A	NM_001267550.2	NP_001254479.2:p.(Val33889Ile)	NC_000002.11:g.179399677C>T	(Likely) benign	6 labs	8f73ef97c3
6:53152683 ELOVL5 G>A	6	53152683	53152683	G	A	ELOVL5	c.304C>T	NM_001242828.2	NP_001229757.1:p.(Gln102Ter)	NC_000006.11:g.53152683G>A	(Likely) benign	2 labs	8f7f0dc977
3:38802713 SCN10A C>T	3	38802713	38802713	C	T	SCN10A	c.853G>A	NM_006514.4	NP_006505.4:p.(Glu285Lys)	NC_000003.11:g.38802713C>T	(Likely) benign	5 labs	8f84cfc156
2:179495742 TTN C>G	2	179495742	179495742	C	G	TTN	c.44014+19G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179495742C>G	(Likely) benign	3 labs	8f947d6143
16:57017279 CETP G>A	16	57017279	57017279	G	A	CETP	c.1363G>A	NM_000078.3	NP_000069.2:p.(Val455Met)	NC_000016.9:g.57017279G>A	(Likely) benign	2 labs	8f9c1efa42
2:179456704 TTN C>T	2	179456704	179456704	C	T	TTN	c.59926+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179456704C>T	(Likely) pathogenic	3 labs	8f9ec0f19d
14:23885449 MYH7 C>T	14	23885449	23885449	C	T	MYH7	c.4717G>A	NM_000257.4	NP_000248.2:p.(Glu1573Lys)	NC_000014.8:g.23885449C>T	VUS	3 labs	8faa808417
1:237617677 RYR2 A>G	1	237617677	237617677	A	G	RYR2	c.1293-14A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237617677A>G	(Likely) benign	3 labs	8fbe797c9d
2:179577912 TTN T>A	2	179577912	179577912	T	A	TTN	c.26949A>T	NM_001267550.2	NP_001254479.2:p.(Leu8983Phe)	NC_000002.11:g.179577912T>A	VUS	5 labs	8fd900c529
17:18064730 MYO15A C>T	17	18064730	18064730	C	T	MYO15A	c.9486C>T	NM_016239.4	NP_057323.3:p.(Asp3162=)	NC_000017.10:g.18064730C>T	(Likely) benign	2 labs	8fdfdfbad7
17:41219628 BRCA1 T>C	17	41219628	41219628	T	C	BRCA1	c.5071A>G	NM_007294.4	NP_009225.1:p.(Thr1691Ala)	NC_000017.10:g.41219628T>C	VUS	2 labs	8ff1edbcda
5:38924544 OSMR G>T	5	38924544	38924544	G	T	OSMR	c.1891G>T	NM_003999.3	NP_003990.1:p.(Val631Leu)	NC_000005.9:g.38924544G>T	(Likely) pathogenic	2 labs	8ff964559a
11:6411930 SMPD1 CCTGGTGCTGGCG>C	11	6411930	6411946	CCTGGTGCTGGCG	C	SMPD1	c.107_118del	NM_000543.5	NP_000534.3:p.(Val36_Leu39del)	NC_000011.9:g.6411935_6411946del	(Likely) benign	4 labs	900e882cdd
14:68236348 ZFYVE26 G>A	14	68236348	68236348	G	A	ZFYVE26	c.5584C>T	NM_015346.4	NP_056161.2:p.(Arg1862Cys)	NC_000014.8:g.68236348G>A	VUS	2 labs	90108d0e2a
21:47860840 PCNT C>CT	21	47860840	47860844	C	CT	PCNT	c.9470dup	NM_006031.6	NP_006022.3:p.(Leu3157PhefsTer11)	NC_000021.8:g.47860844dup	(Likely) pathogenic	2 labs	902011de86
X:139586314 SOX3 C>T	X	139586314	139586314	C	T	SOX3	c.912G>A	NM_005634.3	NP_005625.2:p.(Met304Ile)	NC_000023.10:g.139586314C>T	VUS	2 labs	9022771519
7:92129161 PEX1 CA>C	7	92129161	92129173	CA	C	PEX1	c.2584-10del	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92129173del	(Likely) benign	3 labs	9029e505ab
17:29562746 NF1 C>T	17	29562746	29562746	C	T	NF1	c.3826C>T	NM_000267.3	NP_000258.1:p.(Arg1276Ter)	NC_000017.10:g.29562746C>T	(Likely) pathogenic	3 labs	902d409e03
20:2398121 TGM6 T>A	20	2398121	2398121	T	A	TGM6	c.1580T>A	NM_198994.3	NP_945345.2:p.(Val527Glu)	NC_000020.10:g.2398121T>A	(Likely) benign	3 labs	902fad8ba3
10:92675579 ANKRD1 T>C	10	92675579	92675579	T	C	ANKRD1	c.710A>G	NM_014391.3	NP_055206.2:p.(His237Arg)	NC_000010.10:g.92675579T>C	VUS	2 labs	90340fff23
12:80735771 OTOGL T>C	12	80735771	80735771	T	C	OTOGL	c.5094T>C	NM_173591.7	NP_775862.4:p.(Asn1698=)	NC_000012.11:g.80735771T>C	(Likely) benign	2 labs	90383da3f5
15:34551082 SLC12A6 G>A	15	34551082	34551082	G	A	SLC12A6	c.448C>T	NM_001042496.2	NP_001035961.1:p.(Leu150=)	NC_000015.9:g.34551082G>A	(Likely) benign	2 labs	9039778e79
X:31497197 DMD A>G	X	31497197	31497197	A	G	DMD	c.8571T>C	NM_004006.3	NP_003997.2:p.(Thr2857=)	NC_000023.10:g.31497197A>G	(Likely) benign	6 labs	9043a0c387
2:179570064 TTN CCTTT>C	2	179570064	179570072	CCTTT	C	TTN	c.29437_29440del	NM_001267550.2	NP_001254479.2:p.(Lys9813GlufsTer60)	NC_000002.11:g.179570069_179570072del	VUS	3 labs	90488a2b3e
13:20763485 GJB2 AG>A	13	20763485	20763488	AG	A	GJB2	c.235del	NM_004004.6	NP_003995.2:p.(Leu79CysfsTer3)	NC_000013.10:g.20763488del	(Likely) pathogenic	2 labs	90499d2239
5:231111 SDHA T>C	5	231111	231111	T	C	SDHA	c.891T>C	NM_004168.4	NP_004159.2:p.(Pro297=)	NC_000005.9:g.231111T>C	(Likely) benign	2 labs	904d3ccc32
21:34924863 SON C>T	21	34924863	34924863	C	T	SON	c.3326C>T	NM_032195.3	NP_115571.3:p.(Ala1109Val)	NC_000021.8:g.34924863C>T	(Likely) benign	2 labs	904dad3623
18:34232636 FHOD3 C>T	18	34232636	34232636	C	T	FHOD3	c.1390C>T	NM_001281740.3	NP_001268669.1:p.(Leu464Phe)	NC_000018.9:g.34232636C>T	(Likely) benign	3 labs	90554139d1
6:161137663 PLG T>G	6	161137663	161137663	T	G	PLG	c.669-14T>G	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161137663T>G	(Likely) benign	2 labs	9056575461
2:121746956 GLI2 G>T	2	121746956	121746956	G	T	GLI2	c.3466G>T	NM_005270.5	NP_005261.2:p.(Ala1156Ser)	NC_000002.11:g.121746956G>T	(Likely) benign	3 labs	905b29b2d4
12:49446075 KMT2D GCCTCAGGTGGTGGGGACGTGGGTGATT>G	12	49446075	49446119	GCCTCAGGTGGTGGGGACGTGGGTGATT	G	KMT2D	c.1364_1390del	NM_003482.4	NP_003473.3:p.(Glu455_Glu463del)	NC_000012.11:g.49446093_49446119del	(Likely) benign	2 labs	9061d291e4
6:112435412 LAMA4 C>G	6	112435412	112435412	C	G	LAMA4	c.5207-14G>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112435412C>G	(Likely) benign	3 labs	90744a0009
11:73796017 C2CD3 T>A	11	73796017	73796017	T	A	C2CD3	c.3911-2A>T	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73796017T>A	(Likely) pathogenic	2 labs	907c6c51d7
12:111348898 MYL2 C>T	12	111348898	111348898	C	T	MYL2	c.484G>A	NM_000432.4	NP_000423.2:p.(Gly162Arg)	NC_000012.11:g.111348898C>T	(Likely) pathogenic	2 labs	9081959fef
1:201044748 CACNA1S A>G	1	201044748	201044748	A	G	CACNA1S	c.1828-5T>C	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201044748A>G	(Likely) benign	2 labs	90827ba829
12:2788879 CACNA1C G>A	12	2788879	2788879	G	A	CACNA1C	c.5361G>A	NM_000719.7	NP_000710.5:p.(Thr1787=)	NC_000012.11:g.2788879G>A	(Likely) benign	2 labs	90856cfefb
2:179566921 TTN G>A	2	179566921	179566921	G	A	TTN	c.30485C>T	NM_001267550.2	NP_001254479.2:p.(Thr10162Met)	NC_000002.11:g.179566921G>A	(Likely) benign	6 labs	9085f4a197
16:64981952 CDH11 T>C	16	64981952	64981952	T	C	CDH11	c.1945A>G	NM_001797.4	NP_001788.2:p.(Ile649Val)	NC_000016.9:g.64981952T>C	VUS	2 labs	90924ae219
16:16291871 ABCC6 G>C	16	16291871	16291871	G	C	ABCC6	c.1338+7C>G	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16291871G>C	(Likely) benign	2 labs	909fc227cf
16:8906914 PMM2 A>C	16	8906914	8906914	A	C	PMM2	c.590A>C	NM_000303.3	NP_000294.1:p.(Glu197Ala)	NC_000016.9:g.8906914A>C	(Likely) benign	3 labs	90ac734591
6:149699950 TAB2 C>A	6	149699950	149699950	C	A	TAB2	c.899C>A	NM_015093.6	NP_055908.1:p.(Ser300Ter)	NC_000006.11:g.149699950C>A	(Likely) pathogenic	2 labs	90acd57186
22:24145622 SMARCB1 C>T	22	24145622	24145622	C	T	SMARCB1	c.628+13C>T	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24145622C>T	(Likely) benign	3 labs	90ae807c22
13:32915049 BRCA2 C>A	13	32915049	32915049	C	A	BRCA2	c.6557C>A	NM_000059.4	NP_000050.3:p.(Ser2186Ter)	NC_000013.10:g.32915049C>A	(Likely) pathogenic	2 labs	90af42c0e8
5:112178594 APC C>T	5	112178594	112178594	C	T	APC	c.7303C>T	NM_000038.6	NP_000029.2:p.(Pro2435Ser)	NC_000005.9:g.112178594C>T	VUS	2 labs	90b6ed5a6f
7:6043386 PMS2 G>A	7	6043386	6043386	G	A	PMS2	c.288C>T	NM_000535.7	NP_000526.2:p.(Ala96=)	NC_000007.13:g.6043386G>A	(Likely) benign	3 labs	90bdcfe8b1
2:170092395 LRP2 A>G	2	170092395	170092395	A	G	LRP2	c.4875T>C	NM_004525.3	NP_004516.2:p.(Cys1625=)	NC_000002.11:g.170092395A>G	(Likely) benign	2 labs	90be723dbe
4:110901198 EGF G>A	4	110901198	110901198	G	A	EGF	c.2124G>A	NM_001963.6	NP_001954.2:p.(Met708Ile)	NC_000004.11:g.110901198G>A	(Likely) benign	2 labs	90c0656aad
22:29091829 CHEK2 TCCCAAAATCTTGGAGTG>T	22	29091829	29091855	TCCCAAAATCTTGGAGTG	T	CHEK2	c.1111_1127del	NM_007194.4	NP_009125.1:p.(His371ArgfsTer18)	NC_000022.10:g.29091839_29091855del	(Likely) pathogenic	2 labs	90c1615a90
14:23858192 MYH6 C>T	14	23858192	23858192	C	T	MYH6	c.4051G>A	NM_002471.4	NP_002462.2:p.(Glu1351Lys)	NC_000014.8:g.23858192C>T	VUS	2 labs	90d4b8b846
2:179650716 TTN G>A	2	179650716	179650716	G	A	TTN	c.2229C>T	NM_001267550.2	NP_001254479.2:p.(Ala743=)	NC_000002.11:g.179650716G>A	(Likely) benign	3 labs	90d5acb02a
17:17713293 RAI1 T>C	17	17713293	17713293	T	C	RAI1	c.5719T>C	NM_030665.4	NP_109590.3:p.(Ter1907GlnextTer1)	NC_000017.10:g.17713293T>C	VUS	2 labs	90e2cde51e
3:38620842 SCN5A C>A	3	38620842	38620842	C	A	SCN5A	c.3373G>T	NM_198056.3	NP_932173.1:p.(Ala1125Ser)	NC_000003.11:g.38620842C>A	VUS	3 labs	90ee15dc6a
11:47372888 MYBPC3 G>A	11	47372888	47372888	G	A	MYBPC3	c.194C>T	NM_000256.3	NP_000247.2:p.(Thr65Met)	NC_000011.9:g.47372888G>A	VUS	2 labs	90f0cf44a8
17:56772369 RAD51C T>TA	17	56772369	56772370	T	TA	RAD51C	c.224dup	NM_058216.3	NP_478123.1:p.(Tyr75Ter)	NC_000017.10:g.56772370dup	(Likely) pathogenic	4 labs	90f47f1200
16:50750582 NOD2 G>GT	16	50750582	50750583	G	GT	NOD2	c.2546+2dup	NM_022162.3	NP_071445.1:p.?	NC_000016.9:g.50750583dup	VUS	2 labs	90ff348f34
13:52548078 ATP7B G>A	13	52548078	52548078	G	A	ATP7B	c.1278C>T	NM_000053.4	NP_000044.2:p.(Val426=)	NC_000013.10:g.52548078G>A	(Likely) benign	4 labs	9109a5dc9e
17:41246333 BRCA1 TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>T	17	41246333	41246374	TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	BRCA1	c.1175_1214del	NM_007294.4	NP_009225.1:p.(Leu392GlnfsTer5)	NC_000017.10:g.41246335_41246374del	(Likely) pathogenic	2 labs	912214f32e
16:30734467 SRCAP G>T	16	30734467	30734467	G	T	SRCAP	c.4076G>T	NM_006662.3	NP_006653.2:p.(Gly1359Val)	NC_000016.9:g.30734467G>T	(Likely) benign	2 labs	91241a8c2a
22:29121242 CHEK2 G>A	22	29121242	29121242	G	A	CHEK2	c.433C>T	NM_007194.4	NP_009125.1:p.(Arg145Trp)	NC_000022.10:g.29121242G>A	(Likely) pathogenic	5 labs	9156773847
2:121726447 GLI2 G>A	2	121726447	121726447	G	A	GLI2	c.801G>A	NM_005270.5	NP_005261.2:p.(Ser267=)	NC_000002.11:g.121726447G>A	(Likely) benign	2 labs	91572542ba
2:241683449 KIF1A A>G	2	241683449	241683449	A	G	KIF1A	c.3494T>C	NM_001244008.2	NP_001230937.1:p.(Ile1165Thr)	NC_000002.11:g.241683449A>G	VUS	4 labs	915f6a8566
13:32932048 BRCA2 G>A	13	32932048	32932048	G	A	BRCA2	c.7787G>A	NM_000059.4	NP_000050.3:p.(Gly2596Glu)	NC_000013.10:g.32932048G>A	(Likely) pathogenic	2 labs	9160ed8d6d
4:170354836 NEK1 C>T	4	170354836	170354836	C	T	NEK1	c.2765-20G>A	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170354836C>T	(Likely) benign	4 labs	916a5807b3
11:47364466 MYBPC3 G>A	11	47364466	47364466	G	A	MYBPC3	c.1372C>T	NM_000256.3	NP_000247.2:p.(Arg458Cys)	NC_000011.9:g.47364466G>A	VUS	2 labs	916fdc77ab
7:151267248 PRKAG2 C>G	7	151267248	151267248	C	G	PRKAG2	c.1106+9G>C	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151267248C>G	(Likely) benign	5 labs	9188970553
2:1497803 TPO C>T	2	1497803	1497803	C	T	TPO	c.1998C>T	NM_000547.6	NP_000538.3:p.(Asp666=)	NC_000002.11:g.1497803C>T	(Likely) benign	2 labs	918e1a94db
11:47363636 MYBPC3 A>G	11	47363636	47363636	A	G	MYBPC3	c.1696T>C	NM_000256.3	NP_000247.2:p.(Cys566Arg)	NC_000011.9:g.47363636A>G	(Likely) pathogenic	3 labs	918e1db8f4
22:38130472 TRIOBP T>C	22	38130472	38130472	T	C	TRIOBP	c.4129T>C	NM_001039141.3	NP_001034230.1:p.(Trp1377Arg)	NC_000022.10:g.38130472T>C	(Likely) benign	2 labs	9197d87437
3:33138549 GLB1 G>A	3	33138549	33138549	G	A	GLB1	c.29C>T	NM_000404.4	NP_000395.3:p.(Pro10Leu)	NC_000003.11:g.33138549G>A	(Likely) benign	4 labs	91b4a3f99e
12:21967673 ABCC9 C>T	12	21967673	21967673	C	T	ABCC9	c.4024-17G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21967673C>T	(Likely) benign	2 labs	91b5220570
4:114276884 ANK2 A>G	4	114276884	114276884	A	G	ANK2	c.7110A>G	NM_001148.6	NP_001139.3:p.(Gln2370=)	NC_000004.11:g.114276884A>G	(Likely) benign	2 labs	91c5846f4a
11:32421544 WT1 A>G	11	32421544	32421544	A	G	WT1	c.1063T>C	NM_024426.6	NP_077744.4:p.(Cys355Arg)	NC_000011.9:g.32421544A>G	(Likely) benign	2 labs	91ccdf00a8
3:197409341 RUBCN G>A	3	197409341	197409341	G	A	RUBCN	c.1991C>T	NM_001145642.4	NP_001139114.1:p.(Thr664Met)	NC_000003.11:g.197409341G>A	(Likely) benign	2 labs	91d0a5ff09
16:16291932 ABCC6 G>A	16	16291932	16291932	G	A	ABCC6	c.1284C>T	NM_001171.6	NP_001162.5:p.(Asn428=)	NC_000016.9:g.16291932G>A	(Likely) benign	4 labs	91db922586
2:179439823 TTN C>T	2	179439823	179439823	C	T	TTN	c.71036G>A	NM_001267550.2	NP_001254479.2:p.(Arg23679Lys)	NC_000002.11:g.179439823C>T	(Likely) benign	5 labs	91e3b0eb5f
12:49434542 KMT2D C>A	12	49434542	49434542	C	A	KMT2D	c.7011G>T	NM_003482.4	NP_003473.3:p.(Gln2337His)	NC_000012.11:g.49434542C>A	VUS	2 labs	91e7d0d6aa
22:38122462 TRIOBP A>G	22	38122462	38122462	A	G	TRIOBP	c.3899A>G	NM_001039141.3	NP_001034230.1:p.(His1300Arg)	NC_000022.10:g.38122462A>G	(Likely) benign	2 labs	91f0ed6069
12:2795399 CACNA1C G>C	12	2795399	2795399	G	C	CACNA1C	c.5748G>C	NM_000719.7	NP_000710.5:p.(Gln1916His)	NC_000012.11:g.2795399G>C	VUS	2 labs	91f9f5453f
14:23894095 MYH7 C>A	14	23894095	23894095	C	A	MYH7	c.2562G>T	NM_000257.4	NP_000248.2:p.(Glu854Asp)	NC_000014.8:g.23894095C>A	VUS	4 labs	91ffa529f5
7:117188682 CFTR G>GTT	7	117188682	117188689	G	GTT	CFTR	c.1210-7_1210-6dup	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117188688_117188689dup	(Likely) benign	3 labs	92021eb9ad
2:179468593 TTN G>A	2	179468593	179468593	G	A	TTN	c.54811+10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179468593G>A	(Likely) benign	3 labs	9214aaa417
16:5132636 ALG1 C>T	16	5132636	5132636	C	T	ALG1	c.1149C>T	NM_019109.5	NP_061982.3:p.(Phe383=)	NC_000016.9:g.5132636C>T	(Likely) benign	2 labs	92416677ed
1:235826382 LYST TA>T	1	235826382	235826395	TA	T	LYST	c.11268-5del	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235826395del	(Likely) benign	5 labs	92453731a2
6:7542280 DSP G>A	6	7542280	7542280	G	A	DSP	c.132G>A	NM_004415.4	NP_004406.2:p.(Arg44=)	NC_000006.11:g.7542280G>A	(Likely) benign	2 labs	92772af125
20:42788607 JPH2 C>T	20	42788607	42788607	C	T	JPH2	c.820G>A	NM_020433.5	NP_065166.2:p.(Asp274Asn)	NC_000020.10:g.42788607C>T	(Likely) benign	3 labs	928082aecb
18:7017272 LAMA1 C>T	18	7017272	7017272	C	T	LAMA1	c.2808+5G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7017272C>T	VUS	3 labs	9285a8fc40
16:58610468 CNOT1 G>A	16	58610468	58610468	G	A	CNOT1	c.1603C>T	NM_016284.5	NP_057368.3:p.(Arg535Cys)	NC_000016.9:g.58610468G>A	(Likely) pathogenic	2 labs	92873f10d3
16:89590243 SPG7 G>A	16	89590243	89590243	G	A	SPG7	c.377-171G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590243G>A	(Likely) benign	2 labs	928b1a8eee
2:179472293 TTN T>C	2	179472293	179472293	T	C	TTN	c.53122A>G	NM_001267550.2	NP_001254479.2:p.(Lys17708Glu)	NC_000002.11:g.179472293T>C	(Likely) benign	2 labs	928d769fce
5:149776232 TCOF1 C>T	5	149776232	149776232	C	T	TCOF1	c.4169C>T	NM_001135243.2	NP_001128715.1:p.(Ala1390Val)	NC_000005.9:g.149776232C>T	(Likely) benign	2 labs	9292c0ed7d
17:48687287 CACNA1G G>T	17	48687287	48687287	G	T	CACNA1G	c.4750G>T	NM_018896.5	NP_061496.2:p.(Ala1584Ser)	NC_000017.10:g.48687287G>T	(Likely) benign	2 labs	929f36f043
12:111352042 MYL2 C>T	12	111352042	111352042	C	T	MYL2	c.222G>A	NM_000432.4	NP_000423.2:p.(Pro74=)	NC_000012.11:g.111352042C>T	(Likely) benign	2 labs	92a496f256
1:16371067 CLCNKB G>T	1	16371067	16371067	G	T	CLCNKB	c.80G>T	NM_000085.5	NP_000076.2:p.(Arg27Leu)	NC_000001.10:g.16371067G>T	(Likely) benign	2 labs	92a5a1cef5
19:11230797 LDLR C>T	19	11230797	11230797	C	T	LDLR	c.1875C>T	NM_000527.5	NP_000518.1:p.(Asn625=)	NC_000019.9:g.11230797C>T	(Likely) benign	2 labs	92a7f7e2ec
1:237875041 RYR2 T>C	1	237875041	237875041	T	C	RYR2	c.10231-4T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237875041T>C	(Likely) benign	3 labs	92b242674e
11:120996292 TECTA A>G	11	120996292	120996292	A	G	TECTA	c.1485A>G	NM_005422.4	NP_005413.2:p.(Ala495=)	NC_000011.9:g.120996292A>G	(Likely) benign	2 labs	92c7a1c388
11:103173911 DYNC2H1 C>T	11	103173911	103173911	C	T	DYNC2H1	c.11206C>T	NM_001080463.2	NP_001073932.1:p.(Pro3736Ser)	NC_000011.9:g.103173911C>T	VUS	2 labs	92d0cd28d3
17:62019254 SCN4A C>T	17	62019254	62019254	C	T	SCN4A	c.4388G>A	NM_000334.4	NP_000325.4:p.(Arg1463His)	NC_000017.10:g.62019254C>T	VUS	2 labs	92d3e43549
11:116706664 APOA1 C>T	11	116706664	116706664	C	T	APOA1	c.664G>A	NM_000039.3	NP_000030.1:p.(Glu222Lys)	NC_000011.9:g.116706664C>T	VUS	2 labs	92e00607ca
2:179438692 TTN C>T	2	179438692	179438692	C	T	TTN	c.72167G>A	NM_001267550.2	NP_001254479.2:p.(Arg24056His)	NC_000002.11:g.179438692C>T	(Likely) benign	2 labs	92e05a67a1
17:39919355 JUP C>A	17	39919355	39919355	C	A	JUP	c.1377G>T	NM_002230.4	NP_002221.1:p.(Leu459=)	NC_000017.10:g.39919355C>A	(Likely) benign	3 labs	92e2182945
1:12027042 PLOD1 A>G	1	12027042	12027042	A	G	PLOD1	c.1792-2A>G	NM_001316320.2	NP_001303249.1:p.?	NC_000001.10:g.12027042A>G	(Likely) pathogenic	3 labs	92e437f08b
4:6303239 WFS1 C>G	4	6303239	6303239	C	G	WFS1	c.1717C>G	NM_006005.3	NP_005996.2:p.(Leu573Val)	NC_000004.11:g.6303239C>G	VUS	2 labs	92f2081c59
13:32929387 BRCA2 T>C	13	32929387	32929387	T	C	BRCA2	c.7397T>C	NM_000059.4	NP_000050.3:p.(Val2466Ala)	NC_000013.10:g.32929387T>C	(Likely) benign	5 labs	92f220821c
10:69908113 MYPN C>T	10	69908113	69908113	C	T	MYPN	c.252C>T	NM_001256268.2	NP_001243197.1:p.(Ile84=)	NC_000010.10:g.69908113C>T	(Likely) benign	5 labs	92f3b54b14
2:179638400 TTN C>T	2	179638400	179638400	C	T	TTN	c.7383G>A	NM_001267550.2	NP_001254479.2:p.(Lys2461=)	NC_000002.11:g.179638400C>T	(Likely) benign	2 labs	92fe5d4380
3:97516864 ARL6 T>C	3	97516864	97516864	T	C	ARL6	c.536-4T>C	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97516864T>C	(Likely) benign	4 labs	92fec311c9
15:37187370 MEIS2 T>G	15	37187370	37187370	T	G	MEIS2	c.1108A>C	NM_170674.5	NP_733774.1:p.(Met370Leu)	NC_000015.9:g.37187370T>G	(Likely) benign	2 labs	92fef19f53
10:126089434 OAT G>A	10	126089434	126089434	G	A	OAT	c.1134C>T	NM_000274.4	NP_000265.1:p.(Asn378=)	NC_000010.10:g.126089434G>A	(Likely) benign	2 labs	930e07399d
6:112440464 LAMA4 G>A	6	112440464	112440464	G	A	LAMA4	c.4695C>T	NM_002290.5	NP_002281.3:p.(Leu1565=)	NC_000006.11:g.112440464G>A	(Likely) benign	4 labs	931937f458
6:129807699 LAMA2 G>C	6	129807699	129807699	G	C	LAMA2	c.7830G>C	NM_000426.4	NP_000417.3:p.(Val2610=)	NC_000006.11:g.129807699G>C	(Likely) benign	3 labs	93205e60e7
2:179436485 TTN TAGTC>T	2	179436485	179436492	TAGTC	T	TTN	c.74370_74373del	NM_001267550.2	NP_001254479.2:p.(Asn24792GlnfsTer29)	NC_000002.11:g.179436489_179436492del	(Likely) pathogenic	2 labs	93216254d3
6:129807629 LAMA2 C>T	6	129807629	129807629	C	T	LAMA2	c.7760C>T	NM_000426.4	NP_000417.3:p.(Ala2587Val)	NC_000006.11:g.129807629C>T	(Likely) benign	2 labs	9333b0ae2f
8:106815245 ZFPM2 G>A	8	106815245	106815245	G	A	ZFPM2	c.2935G>A	NM_012082.4	NP_036214.2:p.(Asp979Asn)	NC_000008.10:g.106815245G>A	VUS	2 labs	9335cb7c7d
1:25890189 LDLRAP1 A>G	1	25890189	25890189	A	G	LDLRAP1	c.654A>G	NM_015627.3	NP_056442.2:p.(Thr218=)	NC_000001.10:g.25890189A>G	(Likely) benign	2 labs	933b9bc1f7
14:23855188 MYH6 C>T	14	23855188	23855188	C	T	MYH6	c.5112G>A	NM_002471.4	NP_002462.2:p.(Ala1704=)	NC_000014.8:g.23855188C>T	(Likely) benign	5 labs	934240fe6e
18:47500989 MYO5B T>C	18	47500989	47500989	T	C	MYO5B	c.1057-4A>G	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47500989T>C	(Likely) benign	2 labs	9357478425
21:47423636 COL6A1 C>T	21	47423636	47423636	C	T	COL6A1	c.2796C>T	NM_001848.3	NP_001839.2:p.(Ser932=)	NC_000021.8:g.47423636C>T	(Likely) benign	3 labs	9369ce22f4
13:32912073 BRCA2 G>A	13	32912073	32912073	G	A	BRCA2	c.3581G>A	NM_000059.4	NP_000050.3:p.(Gly1194Asp)	NC_000013.10:g.32912073G>A	(Likely) benign	4 labs	936db56879
1:156107469 LMNA C>T	1	156107469	156107469	C	T	LMNA	c.1633C>T	NM_170707.4	NP_733821.1:p.(Arg545Cys)	NC_000001.10:g.156107469C>T	VUS	2 labs	9373287ed5
17:10433222 MYH2 AG>A	17	10433222	10433223	AG	A	MYH2	c.2866del	NM_017534.6	NP_060004.3:p.(Leu956SerfsTer10)	NC_000017.10:g.10433223del	(Likely) pathogenic	2 labs	93876b254f
4:5785442 EVC G>A	4	5785442	5785442	G	A	EVC	c.1727G>A	NM_153717.3	NP_714928.1:p.(Arg576Gln)	NC_000004.11:g.5785442G>A	(Likely) benign	2 labs	938ea1154d
3:48617213 COL7A1 A>G	3	48617213	48617213	A	G	COL7A1	c.5154+5T>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48617213A>G	(Likely) benign	2 labs	93a8336cb1
2:179416847 TTN G>C	2	179416847	179416847	G	C	TTN	c.90780C>G	NM_001267550.2	NP_001254479.2:p.(Tyr30260Ter)	NC_000002.11:g.179416847G>C	(Likely) pathogenic	2 labs	93b1ec6c68
22:29092962 CHEK2 T>G	22	29092962	29092962	T	G	CHEK2	c.1022A>C	NM_007194.4	NP_009125.1:p.(Asn341Thr)	NC_000022.10:g.29092962T>G	VUS	5 labs	93c05ef07d
19:45411987 APOE G>A	19	45411987	45411987	G	A	APOE	c.434G>A	NM_000041.4	NP_000032.1:p.(Gly145Asp)	NC_000019.9:g.45411987G>A	VUS	2 labs	93cdb9baec
15:57523386 TCF12 C>T	15	57523386	57523386	C	T	TCF12	c.616C>T	NM_207036.2	NP_996919.1:p.(Arg206Cys)	NC_000015.9:g.57523386C>T	VUS	2 labs	93da3e83ad
16:70305858 AARS1 A>C	16	70305858	70305858	A	C	AARS1	c.497T>G	NM_001605.3	NP_001596.2:p.(Ile166Ser)	NC_000016.9:g.70305858A>C	VUS	2 labs	93e07ccd1b
6:152683413 SYNE1 G>T	6	152683413	152683413	G	T	SYNE1	c.10191C>A	NM_182961.4	NP_892006.3:p.(Gly3397=)	NC_000006.11:g.152683413G>T	(Likely) benign	4 labs	93ecb655dc
19:38965975 RYR1 A>G	19	38965975	38965975	A	G	RYR1	c.4178A>G	NM_000540.3	NP_000531.2:p.(Lys1393Arg)	NC_000019.9:g.38965975A>G	(Likely) benign	4 labs	93eceacef6
9:140055876 GRIN1 G>A	9	140055876	140055876	G	A	GRIN1	c.1467+8G>A	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140055876G>A	(Likely) benign	2 labs	9406438167
2:121713022 GLI2 C>G	2	121713022	121713022	C	G	GLI2	c.643+16C>G	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121713022C>G	(Likely) benign	2 labs	940e9af3e9
17:27580756 CRYBA1 C>T	17	27580756	27580756	C	T	CRYBA1	c.456C>T	NM_005208.5	NP_005199.2:p.(Gly152=)	NC_000017.10:g.27580756C>T	(Likely) benign	2 labs	9416c4d9cc
16:30100401 TBX6 C>T	16	30100401	30100401	C	T	TBX6	c.484G>A	NM_004608.4	NP_004599.2:p.(Gly162Ser)	NC_000016.9:g.30100401C>T	(Likely) benign	2 labs	94198d8e72
6:112430662 LAMA4 A>G	6	112430662	112430662	A	G	LAMA4	c.5450T>C	NM_001105206.3	NP_001098676.2:p.(Ile1817Thr)	NC_000006.11:g.112430662A>G	(Likely) benign	4 labs	9421366138
X:41203501 DDX3X C>T	X	41203501	41203501	C	T	DDX3X	c.874C>T	NM_001193416.3	NP_001180345.1:p.(Arg292Ter)	NC_000023.10:g.41203501C>T	(Likely) pathogenic	2 labs	9428eceeec
2:179643821 TTN G>A	2	179643821	179643821	G	A	TTN	c.3988C>T	NM_001267550.2	NP_001254479.2:p.(Arg1330Cys)	NC_000002.11:g.179643821G>A	VUS	2 labs	942b4c9050
12:6140659 VWF C>T	12	6140659	6140659	C	T	VWF	c.2771G>A	NM_000552.5	NP_000543.3:p.(Arg924Gln)	NC_000012.11:g.6140659C>T	VUS	2 labs	942f219e51
2:179571595 TTN C>T	2	179571595	179571595	C	T	TTN	c.29128G>A	NM_001267550.2	NP_001254479.2:p.(Val9710Ile)	NC_000002.11:g.179571595C>T	(Likely) benign	6 labs	9431a90fac
19:11216025 LDLR G>A	19	11216025	11216025	G	A	LDLR	c.443G>A	NM_000527.5	NP_000518.1:p.(Cys148Tyr)	NC_000019.9:g.11216025G>A	(Likely) pathogenic	2 labs	9431dd4e31
12:88898987 KITLG ACTCTCT>A	12	88898987	88898997	ACTCTCT	A	KITLG	c.802_807del	NM_000899.5	NP_000890.1:p.(Arg268_Glu269del)	NC_000012.11:g.88898992_88898997del	VUS	2 labs	944041ded3
5:137206560 MYOT A>C	5	137206560	137206560	A	C	MYOT	c.220=	NM_006790.3	NP_006781.1:p.(Gln74=)	NC_000005.9:g.137206560A>C	(Likely) benign	3 labs	944cd3e603
2:48033348 MSH6 G>C	2	48033348	48033348	G	C	MSH6	c.3652G>C	NM_000179.3	NP_000170.1:p.(Gly1218Arg)	NC_000002.11:g.48033348G>C	(Likely) pathogenic	2 labs	944d80b534
2:179528821 TTN G>A	2	179528821	179528821	G	A	TTN	c.36285C>T	NM_001267550.2	NP_001254479.2:p.(His12095=)	NC_000002.11:g.179528821G>A	(Likely) benign	6 labs	945027c688
5:127654670 FBN2 T>G	5	127654670	127654670	T	G	FBN2	c.4495A>C	NM_001999.4	NP_001990.2:p.(Asn1499His)	NC_000005.9:g.127654670T>G	VUS	2 labs	b0513071aa
1:6501044 ESPN C>G	1	6501044	6501044	C	G	ESPN	c.909C>G	NM_031475.3	NP_113663.2:p.(Arg303=)	NC_000001.10:g.6501044C>G	(Likely) benign	2 labs	947274ddc5
9:6605186 GLDC G>A	9	6605186	6605186	G	A	GLDC	c.806C>T	NM_000170.3	NP_000161.2:p.(Thr269Met)	NC_000009.11:g.6605186G>A	(Likely) pathogenic	3 labs	947620cf83
3:38601809 SCN5A C>T	3	38601809	38601809	C	T	SCN5A	c.4074G>A	NM_001099404.2	NP_001092874.1:p.(Gly1358=)	NC_000003.11:g.38601809C>T	(Likely) benign	3 labs	948dc245ce
1:2234810 SKI C>T	1	2234810	2234810	C	T	SKI	c.1182C>T	NM_003036.4	NP_003027.1:p.(Ser394=)	NC_000001.10:g.2234810C>T	(Likely) benign	4 labs	9491883229
17:7576626 TP53 T>G	17	7576626	7576626	T	G	TP53	c.993+227A>C	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7576626T>G	VUS	3 labs	94976f9ffc
8:144997223 PLEC G>A	8	144997223	144997223	G	A	PLEC	c.7285C>T	NM_201380.4	NP_958782.1:p.(Arg2429Ter)	NC_000008.10:g.144997223G>A	(Likely) pathogenic	2 labs	94a4c0c13f
2:179611384 TTN C>T	2	179611384	179611384	C	T	TTN	c.15743G>A	NM_133379.5	NP_596870.2:p.(Gly5248Glu)	NC_000002.11:g.179611384C>T	VUS	2 labs	94a772dd6e
7:83643687 SEMA3A G>A	7	83643687	83643687	G	A	SEMA3A	c.668-20C>T	NM_006080.3	NP_006071.1:p.?	NC_000007.13:g.83643687G>A	(Likely) benign	2 labs	94a9a9c255
17:41244846 BRCA1 A>G	17	41244846	41244846	A	G	BRCA1	c.2702T>C	NM_007294.4	NP_009225.1:p.(Phe901Ser)	NC_000017.10:g.41244846A>G	(Likely) benign	3 labs	94c85f3df2
13:52511606 ATP7B G>A	13	52511606	52511606	G	A	ATP7B	c.3903+6C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52511606G>A	(Likely) benign	3 labs	94d3f373d9
1:237754280 RYR2 G>A	1	237754280	237754280	G	A	RYR2	c.4148G>A	NM_001035.3	NP_001026.2:p.(Arg1383His)	NC_000001.10:g.237754280G>A	VUS	2 labs	94d3fe70f8
11:47373058 MYBPC3 T>C	11	47373058	47373058	T	C	MYBPC3	c.26-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373058T>C	(Likely) pathogenic	4 labs	94e1174d83
16:3820640 CREBBP C>T	16	3820640	3820640	C	T	CREBBP	c.2811G>A	NM_004380.3	NP_004371.2:p.(Pro937=)	NC_000016.9:g.3820640C>T	(Likely) benign	2 labs	94e93a75e3
13:110827580 COL4A1 C>T	13	110827580	110827580	C	T	COL4A1	c.3183G>A	NM_001845.6	NP_001836.3:p.(Gly1061=)	NC_000013.10:g.110827580C>T	(Likely) benign	4 labs	94eda28121
15:63335125 TPM1 G>A	15	63335125	63335125	G	A	TPM1	c.97G>A	NM_001018005.2	NP_001018005.1:p.(Glu33Lys)	NC_000015.9:g.63335125G>A	VUS	2 labs	94fd79fe2c
11:64573095 MEN1 C>T	11	64573095	64573095	C	T	MEN1	c.1200+12G>A	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64573095C>T	(Likely) benign	4 labs	95098f1936
1:223176543 DISP1 C>A	1	223176543	223176543	C	A	DISP1	c.1804C>A	NM_032890.5	NP_116279.2:p.(Gln602Lys)	NC_000001.10:g.223176543C>A	VUS	2 labs	950c873e79
19:11233941 LDLR A>G	19	11233941	11233941	A	G	LDLR	c.2232A>G	NM_000527.5	NP_000518.1:p.(Arg744=)	NC_000019.9:g.11233941A>G	(Likely) benign	2 labs	9519e88445
5:13692193 DNAH5 C>T	5	13692193	13692193	C	T	DNAH5	c.13775G>A	NM_001369.3	NP_001360.1:p.(Arg4592Gln)	NC_000005.9:g.13692193C>T	VUS	2 labs	b1712b00cd
2:149240949 MBD5 A>C	2	149240949	149240949	A	C	MBD5	c.2789A>C	NM_018328.5	NP_060798.2:p.(Gln930Pro)	NC_000002.11:g.149240949A>C	(Likely) benign	2 labs	95282706ca
4:994452 IDUA C>T	4	994452	994452	C	T	IDUA	c.352C>T	NM_000203.5	NP_000194.2:p.(Leu118=)	NC_000004.11:g.994452C>T	(Likely) benign	4 labs	953d168b82
11:95580926 MTMR2 G>A	11	95580926	95580926	G	A	MTMR2	c.915C>T	NM_001243571.2	NP_001230500.1:p.(Thr305=)	NC_000011.9:g.95580926G>A	(Likely) benign	2 labs	953e5a7897
2:29445458 ALK G>T	2	29445458	29445458	G	T	ALK	c.3375C>A	NM_004304.5	NP_004295.2:p.(Gly1125=)	NC_000002.11:g.29445458G>T	(Likely) benign	2 labs	9548a57dc7
6:102247539 GRIK2 T>C	6	102247539	102247539	T	C	GRIK2	c.968T>C	NM_021956.5	NP_068775.1:p.(Met323Thr)	NC_000006.11:g.102247539T>C	VUS	2 labs	9552410b1a
2:179616285 TTN T>C	2	179616285	179616285	T	C	TTN	c.10842A>G	NM_133379.5	NP_596870.2:p.(Glu3614=)	NC_000002.11:g.179616285T>C	(Likely) benign	3 labs	955b216f02
7:42012033 GLI3 G>A	7	42012033	42012033	G	A	GLI3	c.2006C>T	NM_000168.6	NP_000159.3:p.(Thr669Ile)	NC_000007.13:g.42012033G>A	(Likely) benign	2 labs	955e52ec2e
14:77493644 IRF2BPL C>CGCGGCG	14	77493644	77493647	C	CGCGGCG	IRF2BPL	c.491_492insCGCCGC	NM_024496.4	NP_078772.1:p.(Ala163_Ala164dup)	NC_000014.8:g.77493646_77493647insGGCGGC	(Likely) benign	2 labs	9586169361
3:49159178 LAMB2 G>A	3	49159178	49159178	G	A	LAMB2	c.5039C>T	NM_002292.4	NP_002283.3:p.(Ala1680Val)	NC_000003.11:g.49159178G>A	VUS	2 labs	9590a27d87
1:45796895 MUTYH C>A	1	45796895	45796895	C	A	MUTYH	c.1435G>T	NM_001128425.2	NP_001121897.1:p.(Glu479Ter)	NC_000001.10:g.45796895C>A	(Likely) pathogenic	2 labs	9591fd85be
4:15982166 PROM1 A>G	4	15982166	15982166	A	G	PROM1	c.2347-6T>C	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15982166A>G	(Likely) benign	2 labs	959c118cce
3:142278201 ATR T>C	3	142278201	142278201	T	C	ATR	c.1624A>G	NM_001184.4	NP_001175.2:p.(Lys542Glu)	NC_000003.11:g.142278201T>C	VUS	2 labs	95b2c1d135
10:68139054 CTNNA3 C>A	10	68139054	68139054	C	A	CTNNA3	c.1588G>T	NM_013266.4	NP_037398.2:p.(Ala530Ser)	NC_000010.10:g.68139054C>A	(Likely) benign	2 labs	95bfebbaa4
1:169455008 SLC19A2 G>A	1	169455008	169455008	G	A	SLC19A2	c.-4C>T	NM_006996.3	NP_008927.1:p.?	NC_000001.10:g.169455008G>A	(Likely) benign	2 labs	95c9771c0e
17:10429120 MYH2 C>T	17	10429120	10429120	C	T	MYH2	c.4261G>A	NM_017534.6	NP_060004.3:p.(Glu1421Lys)	NC_000017.10:g.10429120C>T	VUS	2 labs	95ccdd49ed
19:11322451 DOCK6 C>T	19	11322451	11322451	C	T	DOCK6	c.4751+1G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11322451C>T	(Likely) pathogenic	2 labs	95de27cf35
11:6662363 DCHS1 C>T	11	6662363	6662363	C	T	DCHS1	c.482G>A	NM_003737.4	NP_003728.1:p.(Arg161His)	NC_000011.9:g.6662363C>T	VUS	2 labs	95e58fd8e2
2:179434120 TTN G>T	2	179434120	179434120	G	T	TTN	c.76739C>A	NM_001267550.2	NP_001254479.2:p.(Thr25580Lys)	NC_000002.11:g.179434120G>T	VUS	2 labs	95f59c68f4
18:25532174 CDH2 G>A	18	25532174	25532174	G	A	CDH2	c.2664C>T	NM_001792.5	NP_001783.2:p.(Asn888=)	NC_000018.9:g.25532174G>A	(Likely) benign	2 labs	960302fa70
10:28903595 WAC C>T	10	28903595	28903595	C	T	WAC	c.1537C>T	NM_016628.5	NP_057712.2:p.(Arg513Ter)	NC_000010.10:g.28903595C>T	(Likely) pathogenic	2 labs	9608d3ed6f
1:45798117 MUTYH C>T	1	45798117	45798117	C	T	MUTYH	c.734G>A	NM_001128425.2	NP_001121897.1:p.(Arg245His)	NC_000001.10:g.45798117C>T	(Likely) pathogenic	3 labs	960d2c0081
16:89599025 SPG7 G>T	16	89599025	89599025	G	T	SPG7	c.1305G>T	NM_003119.4	NP_003110.1:p.(Gln435His)	NC_000016.9:g.89599025G>T	VUS	3 labs	960eff2e27
17:18057167 MYO15A A>T	17	18057167	18057167	A	T	MYO15A	c.8045A>T	NM_016239.4	NP_057323.3:p.(Tyr2682Phe)	NC_000017.10:g.18057167A>T	(Likely) benign	2 labs	9620490969
16:74748088 FA2H T>A	16	74748088	74748088	T	A	FA2H				NC_000016.9:g.74748088T>A	VUS	2 labs	962be2a16a
8:10464885 RP1L1 T>C	8	10464885	10464885	T	C	RP1L1	c.6723A>G	NM_178857.6	NP_849188.4:p.(Ser2241=)	NC_000008.10:g.10464885T>C	(Likely) benign	2 labs	963115959a
8:43014187 HGSNAT C>T	8	43014187	43014187	C	T	HGSNAT	c.493C>T	NM_152419.3	NP_689632.2:p.(Pro165Ser)	NC_000008.10:g.43014187C>T	VUS	3 labs	963163f20d
16:58575472 CNOT1 T>C	16	58575472	58575472	T	C	CNOT1	c.4718A>G	NM_001265612.2	NP_001252541.1:p.(Asn1573Ser)	NC_000016.9:g.58575472T>C	(Likely) benign	2 labs	96317beef4
16:29825126 PRRT2 T>C	16	29825126	29825126	T	C	PRRT2	c.751T>C	NM_001256443.2	NP_001243372.1:p.(Leu251=)	NC_000016.9:g.29825126T>C	(Likely) benign	2 labs	9645a5274e
12:122243127 SETD1B G>A	12	122243127	122243127	G	A	SETD1B	c.273+5G>A	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122243127G>A	(Likely) benign	3 labs	965ac50c40
12:51125275 DIP2B G>A	12	51125275	51125275	G	A	DIP2B	c.3765G>A	NM_173602.3	NP_775873.2:p.(Met1255Ile)	NC_000012.11:g.51125275G>A	(Likely) benign	2 labs	966134a433
15:45408710 DUOXA2 A>G	15	45408710	45408710	A	G	DUOXA2	c.341-4A>G	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45408710A>G	(Likely) benign	2 labs	966b7c90a8
12:80761430 OTOGL G>A	12	80761430	80761430	G	A	OTOGL	c.6421G>A	NM_173591.7	NP_775862.4:p.(Ala2141Thr)	NC_000012.11:g.80761430G>A	(Likely) benign	2 labs	96727b805b
6:123699042 TRDN T>C	6	123699042	123699042	T	C	TRDN	c.1188A>G	NM_006073.4	NP_006064.2:p.(Lys396=)	NC_000006.11:g.123699042T>C	(Likely) benign	2 labs	9673895260
X:77298857 ATP7A G>A	X	77298857	77298857	G	A	ATP7A	c.4048=	NM_000052.7	NP_000043.4:p.(Lys1350=)	NC_000023.10:g.77298857G>A	(Likely) benign	2 labs	96793f18e2
14:88411947 GALC T>C	14	88411947	88411947	T	C	GALC	c.1620A>G	NM_000153.4	NP_000144.2:p.(Thr540=)	NC_000014.8:g.88411947T>C	(Likely) benign	2 labs	9685fec4ac
8:106813942 ZFPM2 G>A	8	106813942	106813942	G	A	ZFPM2	c.1632G>A	NM_012082.4	NP_036214.2:p.(Met544Ile)	NC_000008.10:g.106813942G>A	(Likely) benign	2 labs	9690e917ba
17:3559823 CTNS G>A	17	3559823	3559823	G	A	CTNS	c.504G>A	NM_004937.3	NP_004928.2:p.(Thr168=)	NC_000017.10:g.3559823G>A	(Likely) benign	2 labs	96ad0f517c
14:95566107 DICER1 AC>A	14	95566107	95566108	AC	A	DICER1	c.4206+9del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566108del	(Likely) benign	2 labs	96bd1fd083
12:49579631 TUBA1A G>A	12	49579631	49579631	G	A	TUBA1A	c.518C>T	NM_001270399.2	NP_001257328.1:p.(Pro173Leu)	NC_000012.11:g.49579631G>A	(Likely) pathogenic	3 labs	96c07acd34
3:129695954 TRH T>C	3	129695954	129695954	T	C	TRH	c.624T>C	NM_007117.5	NP_009048.1:p.(Leu208=)	NC_000003.11:g.129695954T>C	(Likely) benign	2 labs	96c8490890
11:47371628 MYBPC3 C>T	11	47371628	47371628	C	T	MYBPC3	c.442G>A	NM_000256.3	NP_000247.2:p.(Gly148Arg)	NC_000011.9:g.47371628C>T	(Likely) pathogenic	5 labs	96cc287142
1:152326321 FLG2 G>GTA	1	152326321	152326323	G	GTA	FLG2	c.3939_3940dup	NM_001014342.3	NP_001014364.1:p.(Thr1314IlefsTer223)	NC_000001.10:g.152326322_152326323dup	VUS	2 labs	96d7256b6a
20:6057970 FERMT1 G>A	20	6057970	6057970	G	A	FERMT1	c.1884C>T	NM_017671.5	NP_060141.3:p.(Asn628=)	NC_000020.10:g.6057970G>A	(Likely) benign	2 labs	96d7e96357
2:179430996 TTN C>T	2	179430996	179430996	C	T	TTN	c.79863G>A	NM_001267550.2	NP_001254479.2:p.(Thr26621=)	NC_000002.11:g.179430996C>T	(Likely) benign	4 labs	96da74b55c
X:135827479 ARHGEF6 C>T	X	135827479	135827479	C	T	ARHGEF6	c.362G>A	NM_004840.3	NP_004831.1:p.(Arg121His)	NC_000023.10:g.135827479C>T	(Likely) benign	5 labs	96dc0b65de
7:147674978 CNTNAP2 A>G	7	147674978	147674978	A	G	CNTNAP2	c.2280A>G	NM_014141.6	NP_054860.1:p.(Ser760=)	NC_000007.13:g.147674978A>G	(Likely) benign	3 labs	96f679fda4
1:45973928 MMACHC G>A	1	45973928	45973928	G	A	MMACHC	c.321G>A	NM_015506.3	NP_056321.2:p.(Val107=)	NC_000001.10:g.45973928G>A	(Likely) benign	3 labs	9702a8aeeb
17:56448328 RNF43 C>T	17	56448328	56448328	C	T	RNF43	c.319G>A	NM_017763.6	NP_060233.3:p.(Val107Ile)	NC_000017.10:g.56448328C>T	(Likely) benign	3 labs	9719ea3c4d
17:78090928 GAA G>A	17	78090928	78090928	G	A	GAA	c.2331+20G>A	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78090928G>A	(Likely) benign	3 labs	971f1fb673
22:21350271 LZTR1 C>T	22	21350271	21350271	C	T	LZTR1	c.2089C>T	NM_006767.4	NP_006758.2:p.(Arg697Trp)	NC_000022.10:g.21350271C>T	VUS	3 labs	9723cc3b55
5:176562347 NSD1 G>C	5	176562347	176562347	G	C	NSD1	c.243G>C	NM_022455.5	NP_071900.2:p.(Met81Ile)	NC_000005.9:g.176562347G>C	VUS	2 labs	973033c923
X:38268220 OTC A>G	X	38268220	38268220	A	G	OTC	c.809A>G	NM_000531.6	NP_000522.3:p.(Gln270Arg)	NC_000023.10:g.38268220A>G	(Likely) benign	4 labs	973093e621
16:89341232 ANKRD11 A>G	16	89341232	89341232	A	G	ANKRD11	c.7703T>C	NM_001256182.2	NP_001243111.1:p.(Leu2568Pro)	NC_000016.9:g.89341232A>G	VUS	2 labs	973a598865
8:133637659 DNAAF11 G>A	8	133637659	133637659	G	A	DNAAF11	c.695C>T	NM_012472.6	NP_036604.2:p.(Thr232Ile)	NC_000008.10:g.133637659G>A	(Likely) benign	2 labs	973bd9b3e8
2:179594386 TTN C>T	2	179594386	179594386	C	T	TTN	c.18589+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179594386C>T	VUS	4 labs	9747960eab
19:50910365 POLD1 C>T	19	50910365	50910365	C	T	POLD1	c.1620C>T	NM_001256849.1	NP_001243778.1:p.(Gly540=)	NC_000019.9:g.50910365C>T	(Likely) benign	3 labs	974ddb77f7
3:38648256 SCN5A G>A	3	38648256	38648256	G	A	SCN5A	c.1044C>T	NM_001099404.2	NP_001092874.1:p.(Pro348=)	NC_000003.11:g.38648256G>A	(Likely) benign	4 labs	975345f044
3:120389316 HGD T>A	3	120389316	120389316	T	A	HGD	c.240A>T	NM_000187.4	NP_000178.2:p.(Gln80His)	NC_000003.11:g.120389316T>A	(Likely) benign	2 labs	9754b4499b
X:152990987 ABCD1 G>A	X	152990987	152990987	G	A	ABCD1	c.266G>A	NM_000033.4	NP_000024.2:p.(Arg89Gln)	NC_000023.10:g.152990987G>A	VUS	2 labs	9755e1a3cf
15:85403097 ALPK3 C>T	15	85403097	85403097	C	T	ALPK3	c.4056C>T	NM_020778.5	NP_065829.4:p.(His1352=)	NC_000015.9:g.85403097C>T	(Likely) benign	4 labs	975d5409b5
4:79293937 FRAS1 G>A	4	79293937	79293937	G	A	FRAS1	c.2935G>A	NM_025074.7	NP_079350.5:p.(Gly979Ser)	NC_000004.11:g.79293937G>A	VUS	2 labs	975f52f769
2:197087064 HECW2 A>C	2	197087064	197087064	A	C	HECW2	c.4017T>G	NM_020760.4	NP_065811.1:p.(Ile1339Met)	NC_000002.11:g.197087064A>C	(Likely) benign	2 labs	9773b8357e
X:32364170 DMD C>G	X	32364170	32364170	C	G	DMD	c.5476G>C	NM_004006.3	NP_003997.2:p.(Glu1826Gln)	NC_000023.10:g.32364170C>G	(Likely) benign	2 labs	977a3acd38
17:17119725 FLCN G>A	17	17119725	17119725	G	A	FLCN	c.1269C>T	NM_144997.7	NP_659434.2:p.(His423=)	NC_000017.10:g.17119725G>A	(Likely) benign	2 labs	978bfe40a7
13:32936646 BRCA2 T>C	13	32936646	32936646	T	C	BRCA2	c.7806-14T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32936646T>C	(Likely) benign	6 labs	97934c7724
15:85383163 ALPK3 C>T	15	85383163	85383163	C	T	ALPK3	c.653C>T	NM_020778.5	NP_065829.4:p.(Pro218Leu)	NC_000015.9:g.85383163C>T	VUS	2 labs	979ed8307c
5:40949997 C7 C>T	5	40949997	40949997	C	T	C7	c.983-9C>T	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40949997C>T	(Likely) benign	2 labs	97a2fb2773
11:108218080 ATM C>G	11	108218080	108218080	C	G	ATM	c.8659C>G	NM_000051.4	NP_000042.3:p.(His2887Asp)	NC_000011.9:g.108218080C>G	VUS	3 labs	97b1f4cc4e
10:12149939 DHTKD1 C>T	10	12149939	12149939	C	T	DHTKD1	c.2079C>T	NM_018706.7	NP_061176.4:p.(Ile693=)	NC_000010.10:g.12149939C>T	(Likely) benign	3 labs	97b501b3a4
15:42688999 CAPN3 T>C	15	42688999	42688999	T	C	CAPN3	c.1117T>C	NM_000070.3	NP_000061.1:p.(Trp373Arg)	NC_000015.9:g.42688999T>C	(Likely) pathogenic	2 labs	97b528820c
X:73959283 NEXMIF G>A	X	73959283	73959283	G	A	NEXMIF	c.4508C>T	NM_001008537.3	NP_001008537.1:p.(Pro1503Leu)	NC_000023.10:g.73959283G>A	VUS	2 labs	97c010e7d6
X:153649044 TAFAZZIN C>T	X	153649044	153649044	C	T	TAFAZZIN	c.747C>T	NM_000116.5	NP_000107.1:p.(Leu249=)	NC_000023.10:g.153649044C>T	(Likely) benign	3 labs	97c06fd894
6:51910905 PKHD1 T>C	6	51910905	51910905	T	C	PKHD1	c.2489A>G	NM_138694.4	NP_619639.3:p.(Asn830Ser)	NC_000006.11:g.51910905T>C	(Likely) benign	2 labs	97c0b52387
6:112508730 LAMA4 G>A	6	112508730	112508730	G	A	LAMA4	c.888C>T	NM_001105206.3	NP_001098676.2:p.(Ser296=)	NC_000006.11:g.112508730G>A	(Likely) benign	3 labs	97c0daae57
2:86481860 REEP1 A>G	2	86481860	86481860	A	G	REEP1	c.260T>C	NM_022912.3	NP_075063.1:p.(Leu87Pro)	NC_000002.11:g.86481860A>G	VUS	2 labs	97d7ddf0f2
20:61455814 COL9A3 GCCAGGTCCC>G	20	61455814	61455828	GCCAGGTCCC	G	COL9A3	c.543_551del	NM_001853.4	NP_001844.3:p.(Pro185_Gly187del)	NC_000020.10:g.61455820_61455828del	VUS	2 labs	97dab47b21
3:50402159 CACNA2D2 G>A	3	50402159	50402159	G	A	CACNA2D2	c.3370C>T	NM_006030.4	NP_006021.2:p.(Leu1124Phe)	NC_000003.11:g.50402159G>A	VUS	2 labs	97db947be7
16:1818294 MAPK8IP3 C>A	16	1818294	1818294	C	A	MAPK8IP3	c.3636C>A	NM_001040439.2	NP_001035529.1:p.(Ser1212Arg)	NC_000016.9:g.1818294C>A	VUS	2 labs	97e25a4c95
15:89861818 POLG G>A	15	89861818	89861818	G	A	POLG	c.3436C>T	NM_002693.3	NP_002684.1:p.(Arg1146Cys)	NC_000015.9:g.89861818G>A	VUS	3 labs	97e7904129
2:179400913 TTN C>T	2	179400913	179400913	C	T	TTN	c.100561G>A	NM_001267550.2	NP_001254479.2:p.(Gly33521Ser)	NC_000002.11:g.179400913C>T	VUS	3 labs	97f09c4f58
2:179613258 TTN A>C	2	179613258	179613258	A	C	TTN	c.13869T>G	NM_133379.5	NP_596870.2:p.(Ser4623=)	NC_000002.11:g.179613258A>C	(Likely) benign	3 labs	980c5e430e
17:41245542 BRCA1 A>G	17	41245542	41245542	A	G	BRCA1	c.2006T>C	NM_007294.4	NP_009225.1:p.(Met669Thr)	NC_000017.10:g.41245542A>G	(Likely) benign	2 labs	980ff16070
2:179523450 TTN C>T	2	179523450	179523450	C	T	TTN	c.37525G>A	NM_001267550.2	NP_001254479.2:p.(Glu12509Lys)	NC_000002.11:g.179523450C>T	(Likely) benign	5 labs	981c0bf64e
2:179514895 TTN T>C	2	179514895	179514895	T	C	TTN	c.39813A>G	NM_001267550.2	NP_001254479.2:p.(Pro13271=)	NC_000002.11:g.179514895T>C	(Likely) benign	3 labs	9826cd5fcc
2:179468764 TTN C>CTA	2	179468764	179468766	C	CTA	TTN	c.54648_54649dup	NM_001267550.2	NP_001254479.2:p.(Ser18217IlefsTer6)	NC_000002.11:g.179468765_179468766dup	(Likely) pathogenic	2 labs	98280fd019
14:23865885 MYH6 G>A	14	23865885	23865885	G	A	MYH6	c.2292+18C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23865885G>A	(Likely) benign	4 labs	98281944ee
19:16606881 CALR3 G>C	19	16606881	16606881	G	C	CALR3	c.60C>G	NM_145046.5	NP_659483.2:p.(Thr20=)	NC_000019.9:g.16606881G>C	(Likely) benign	5 labs	982c2d6bcd
6:32017105 TNXB A>G	6	32017105	32017105	A	G	TNXB	c.9693T>C	NM_019105.8	NP_061978.6:p.(His3231=)	NC_000006.11:g.32017105A>G	(Likely) benign	2 labs	982e141349
X:132838305 GPC3 GA>G	X	132838305	132838318	GA	G	GPC3	c.1033-5del	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132838318del	(Likely) benign	4 labs	9840ae31b4
11:17615203 OTOG G>A	11	17615203	17615203	G	A	OTOG	c.3224G>A	NM_001277269.2	NP_001264198.1:p.(Arg1075Gln)	NC_000011.9:g.17615203G>A	(Likely) benign	2 labs	984b0bd4ad
9:94486092 ROR2 T>C	9	94486092	94486092	T	C	ROR2	c.2684A>G	NM_004560.4	NP_004551.2:p.(Asp895Gly)	NC_000009.11:g.94486092T>C	VUS	2 labs	9858dfd118
11:47354445 MYBPC3 AAGT>A	11	47354445	47354453	AAGT	A	MYBPC3	c.3407_3409del	NM_000256.3	NP_000247.2:p.(Tyr1136del)	NC_000011.9:g.47354451_47354453del	(Likely) pathogenic	6 labs	985aea111d
11:108163374 ATM C>T	11	108163374	108163374	C	T	ATM	c.4465C>T	NM_001351834.2	NP_001338763.1:p.(Arg1489Cys)	NC_000011.9:g.108163374C>T	VUS	3 labs	9860fda2bd
10:104159090 NFKB2 A>G	10	104159090	104159090	A	G	NFKB2	c.1163A>G	NM_001077494.3	NP_001070962.1:p.(Tyr388Cys)	NC_000010.10:g.104159090A>G	VUS	2 labs	986434df74
11:118959331 HMBS G>A	11	118959331	118959331	G	A	HMBS	c.88-14G>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118959331G>A	(Likely) benign	2 labs	9866893bf5
7:128478755 FLNC C>T	7	128478755	128478755	C	T	FLNC	c.1309C>T	NM_001458.5	NP_001449.3:p.(Arg437Cys)	NC_000007.13:g.128478755C>T	VUS	2 labs	98735d661f
13:32914260 BRCA2 ACATT>A	13	32914260	32914266	ACATT	A	BRCA2	c.5771_5774del	NM_000059.4	NP_000050.3:p.(Ile1924ArgfsTer38)	NC_000013.10:g.32914263_32914266del	(Likely) pathogenic	2 labs	98757f1d96
3:4741510 ITPR1 C>T	3	4741510	4741510	C	T	ITPR1	c.4376C>T	NM_001168272.2	NP_001161744.1:p.(Thr1459Ile)	NC_000003.11:g.4741510C>T	VUS	2 labs	9878ae0b41
X:100653420 GLA C>A	X	100653420	100653420	C	A	GLA	c.937G>T	NM_000169.3	NP_000160.1:p.(Asp313Tyr)	NC_000023.10:g.100653420C>A	(Likely) benign	6 labs	987a890023
16:88495654 ZNF469 A>G	16	88495654	88495654	A	G	ZNF469	c.1776A>G	NM_001367624.2	NP_001354553.1:p.(Pro592=)	NC_000016.9:g.88495654A>G	(Likely) benign	3 labs	988151a7b0
14:23901870 MYH7 G>A	14	23901870	23901870	G	A	MYH7	c.480C>T	NM_000257.4	NP_000248.2:p.(Asn160=)	NC_000014.8:g.23901870G>A	(Likely) benign	6 labs	9885136f76
6:65149185 EYS T>A	6	65149185	65149185	T	A	EYS	c.5705A>T	NM_001142800.2	NP_001136272.1:p.(Asn1902Ile)	NC_000006.11:g.65149185T>A	(Likely) benign	2 labs	989f7643e1
14:50769668 L2HGDH G>A	14	50769668	50769668	G	A	L2HGDH	c.208C>T	NM_024884.3	NP_079160.1:p.(Arg70Ter)	NC_000014.8:g.50769668G>A	(Likely) pathogenic	2 labs	98a1a96862
13:113792754 F10 T>C	13	113792754	113792754	T	C	F10	c.232-17T>C	NM_000504.4	NP_000495.1:p.?	NC_000013.10:g.113792754T>C	(Likely) benign	2 labs	98ad27497a
1:237058744 MTR C>A	1	237058744	237058744	C	A	MTR	c.3492C>A	NM_000254.3	NP_000245.2:p.(Arg1164=)	NC_000001.10:g.237058744C>A	(Likely) benign	2 labs	98b52686ef
14:23896047 MYH7 G>A	14	23896047	23896047	G	A	MYH7	c.1983C>T	NM_000257.4	NP_000248.2:p.(Asn661=)	NC_000014.8:g.23896047G>A	(Likely) benign	3 labs	98b53fe585
15:91543761 VPS33B C>T	15	91543761	91543761	C	T	VPS33B	c.1540G>A	NM_018668.5	NP_061138.3:p.(Gly514Ser)	NC_000015.9:g.91543761C>T	(Likely) benign	3 labs	98cbec7800
19:48800383 ODAD1 GC>G	19	48800383	48800387	GC	G	ODAD1	c.1862del	NM_144577.4	NP_653178.3:p.(Gly621AlafsTer126)	NC_000019.9:g.48800387del	VUS	2 labs	98ccd6d64c
19:11216244 LDLR A>G	19	11216244	11216244	A	G	LDLR	c.662A>G	NM_000527.5	NP_000518.1:p.(Asp221Gly)	NC_000019.9:g.11216244A>G	(Likely) pathogenic	2 labs	98d0b7752e
13:32953472 BRCA2 C>T	13	32953472	32953472	C	T	BRCA2	c.8773C>T	NM_000059.4	NP_000050.3:p.(Gln2925Ter)	NC_000013.10:g.32953472C>T	(Likely) pathogenic	2 labs	98d25d81cd
16:2546353 TBC1D24 G>A	16	2546353	2546353	G	A	TBC1D24	c.204G>A	NM_001199107.2	NP_001186036.1:p.(Thr68=)	NC_000016.9:g.2546353G>A	(Likely) benign	3 labs	98d69d037f
X:135289217 FHL1 C>T	X	135289217	135289217	C	T	FHL1	c.199C>T	NM_001449.5	NP_001440.2:p.(Arg67Cys)	NC_000023.10:g.135289217C>T	VUS	2 labs	98f588cdf0
2:160261531 BAZ2B A>G	2	160261531	160261531	A	G	BAZ2B	c.2662+2T>C	NM_001289975.1	NP_001276904.1:p.?	NC_000002.11:g.160261531A>G	VUS	2 labs	b7322d8358
10:75854218 VCL C>T	10	75854218	75854218	C	T	VCL	c.1542C>T	NM_014000.3	NP_054706.1:p.(Val514=)	NC_000010.10:g.75854218C>T	(Likely) benign	4 labs	99216cf3d6
2:44053520 ABCG5 C>A	2	44053520	44053520	C	A	ABCG5	c.774+1G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053520C>A	(Likely) pathogenic	2 labs	9928f33449
20:57429273 GNAS TCGA>T	20	57429273	57429280	TCGA	T	GNAS	c.771_773del	NM_001077490.3	NP_001070958.1:p.(Thr258del)	NC_000020.10:g.57429278_57429280del	VUS	2 labs	99316c0ef9
2:179394750 TTN A>G	2	179394750	179394750	A	G	TTN	c.106468T>C	NM_001267550.2	NP_001254479.2:p.(Tyr35490His)	NC_000002.11:g.179394750A>G	VUS	2 labs	99387bdfe5
22:40666170 TNRC6B G>A	22	40666170	40666170	G	A	TNRC6B	c.2851G>A	NM_001162501.2	NP_001155973.1:p.(Ala951Thr)	NC_000022.10:g.40666170G>A	VUS	2 labs	99390add15
10:76790331 KAT6B A>G	10	76790331	76790331	A	G	KAT6B	c.5749A>G	NM_012330.4	NP_036462.2:p.(Ile1917Val)	NC_000010.10:g.76790331A>G	(Likely) benign	2 labs	99406c25e3
3:46902303 MYL3 G>T	3	46902303	46902303	G	T	MYL3	c.170C>A	NM_000258.3	NP_000249.1:p.(Ala57Asp)	NC_000003.11:g.46902303G>T	VUS	6 labs	99455b0465
1:186277989 PRG4 A>G	1	186277989	186277989	A	G	PRG4	c.3138A>G	NM_005807.6	NP_005798.3:p.(Pro1046=)	NC_000001.10:g.186277989A>G	(Likely) benign	3 labs	9947aec782
2:179506014 TTN T>C	2	179506014	179506014	T	C	TTN	c.40587A>G	NM_001267550.2	NP_001254479.2:p.(Glu13529=)	NC_000002.11:g.179506014T>C	(Likely) benign	3 labs	9953daa56a
14:68264867 ZFYVE26 A>G	14	68264867	68264867	A	G	ZFYVE26	c.2112T>C	NM_015346.4	NP_056161.2:p.(Pro704=)	NC_000014.8:g.68264867A>G	(Likely) benign	2 labs	995c9aaf28
5:1268618 TERT G>A	5	1268618	1268618	G	A	TERT	c.2582+17C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1268618G>A	(Likely) benign	2 labs	99627f5104
14:23899027 MYH7 C>T	14	23899027	23899027	C	T	MYH7	c.1095G>A	NM_000257.4	NP_000248.2:p.(Lys365=)	NC_000014.8:g.23899027C>T	(Likely) benign	5 labs	9967f0ded4
2:179638933 TTN C>T	2	179638933	179638933	C	T	TTN	c.7057+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179638933C>T	(Likely) pathogenic	2 labs	99705e9743
11:47364286 MYBPC3 G>A	11	47364286	47364286	G	A	MYBPC3	c.1467C>T	NM_000256.3	NP_000247.2:p.(Asp489=)	NC_000011.9:g.47364286G>A	(Likely) benign	3 labs	9977b07e90
17:41246764 BRCA1 G>A	17	41246764	41246764	G	A	BRCA1	c.784C>T	NM_007294.4	NP_009225.1:p.(Gln262Ter)	NC_000017.10:g.41246764G>A	(Likely) pathogenic	2 labs	997ca5e083
10:135184126 ECHS1 G>A	10	135184126	135184126	G	A	ECHS1	c.224C>T	NM_004092.4	NP_004083.3:p.(Thr75Ile)	NC_000010.10:g.135184126G>A	(Likely) benign	2 labs	99827e712e
9:79954743 VPS13A C>T	9	79954743	79954743	C	T	VPS13A	c.6690C>T	NM_033305.3	NP_150648.2:p.(Asp2230=)	NC_000009.11:g.79954743C>T	(Likely) benign	2 labs	99831a6287
2:179473058 TTN G>A	2	179473058	179473058	G	A	TTN	c.52552C>T	NM_001267550.2	NP_001254479.2:p.(Arg17518Cys)	NC_000002.11:g.179473058G>A	VUS	3 labs	9988112fcd
18:72998004 TSHZ1 T>C	18	72998004	72998004	T	C	TSHZ1	c.507T>C	NM_005786.6	NP_005777.3:p.(Tyr169=)	NC_000018.9:g.72998004T>C	(Likely) benign	2 labs	9989f2bde5
9:2039793 SMARCA2 A>AGCC	9	2039793	2039796	A	AGCC	SMARCA2	c.685_686insCGC	NM_003070.5	NP_003061.3:p.(Gln228_Gln229insPro)	NC_000009.11:g.2039795_2039796insCGC	(Likely) benign	4 labs	999148c038
10:105816862 COL17A1 C>T	10	105816862	105816862	C	T	COL17A1	c.1336G>A	NM_000494.4	NP_000485.3:p.(Gly446Ser)	NC_000010.10:g.105816862C>T	(Likely) benign	3 labs	9992ce6b13
6:65767506 EYS C>T	6	65767506	65767506	C	T	EYS	c.2137+1G>A	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65767506C>T	(Likely) pathogenic	2 labs	9992e03503
6:129813053 LAMA2 A>G	6	129813053	129813053	A	G	LAMA2	c.7906A>G	NM_000426.4	NP_000417.3:p.(Thr2636Ala)	NC_000006.11:g.129813053A>G	(Likely) benign	3 labs	99a6a286ae
22:41556727 EP300 G>A	22	41556727	41556727	G	A	EP300	c.3671+1G>A	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41556727G>A	(Likely) pathogenic	2 labs	99a8e82eb3
6:7580488 DSP T>C	6	7580488	7580488	T	C	DSP	c.4065T>C	NM_004415.4	NP_004406.2:p.(Tyr1355=)	NC_000006.11:g.7580488T>C	(Likely) benign	5 labs	99a9c55bd1
9:79955301 VPS13A G>C	9	79955301	79955301	G	C	VPS13A	c.6880-19G>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79955301G>C	(Likely) benign	2 labs	99b98dc553
16:23646436 PALB2 G>A	16	23646436	23646436	G	A	PALB2	c.1431C>T	NM_024675.4	NP_078951.2:p.(Thr477=)	NC_000016.9:g.23646436G>A	(Likely) benign	3 labs	99cac08c9a
11:17615728 OTOG C>T	11	17615728	17615728	C	T	OTOG	c.3444+15C>T	NM_001277269.2	NP_001264198.1:p.?	NC_000011.9:g.17615728C>T	(Likely) benign	2 labs	99d5548371
1:94564483 ABCA4 C>T	1	94564483	94564483	C	T	ABCA4	c.635G>A	NM_000350.3	NP_000341.2:p.(Arg212His)	NC_000001.10:g.94564483C>T	(Likely) benign	2 labs	99d7987a4d
14:23888440 MYH7 G>A	14	23888440	23888440	G	A	MYH7	c.3918C>T	NM_000257.4	NP_000248.2:p.(Leu1306=)	NC_000014.8:g.23888440G>A	(Likely) benign	4 labs	99d7dc2975
3:123451773 MYLK G>C	3	123451773	123451773	G	C	MYLK	c.1486C>G	NM_053025.4	NP_444253.3:p.(Leu496Val)	NC_000003.11:g.123451773G>C	(Likely) benign	3 labs	99e7d04a4b
2:15601441 NBAS C>T	2	15601441	15601441	C	T	NBAS	c.2223G>A	NM_015909.4	NP_056993.2:p.(Leu741=)	NC_000002.11:g.15601441C>T	(Likely) benign	2 labs	99f180294c
4:79420870 FRAS1 C>G	4	79420870	79420870	C	G	FRAS1	c.9116-5C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420870C>G	(Likely) benign	2 labs	99f3f6200a
1:215960167 USH2A T>G	1	215960167	215960167	T	G	USH2A	c.10232A>C	NM_206933.4	NP_996816.3:p.(Glu3411Ala)	NC_000001.10:g.215960167T>G	(Likely) benign	2 labs	99f43ee627
2:179466456 TTN G>A	2	179466456	179466456	G	A	TTN	c.55361C>T	NM_001267550.2	NP_001254479.2:p.(Thr18454Ile)	NC_000002.11:g.179466456G>A	VUS	2 labs	99fc7a13cb
5:178549791 ADAMTS2 G>A	5	178549791	178549791	G	A	ADAMTS2	c.2959-17C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178549791G>A	(Likely) benign	2 labs	9a0d64e1bc
1:236911012 ACTN2 G>A	1	236911012	236911012	G	A	ACTN2	c.1452G>A	NM_001103.4	NP_001094.1:p.(Gln484=)	NC_000001.10:g.236911012G>A	(Likely) benign	5 labs	9a0ef3b933
10:92678626 ANKRD1 T>A	10	92678626	92678626	T	A	ANKRD1	c.449A>T	NM_014391.3	NP_055206.2:p.(Asp150Val)	NC_000010.10:g.92678626T>A	VUS	4 labs	9a1b3e29bd
7:128488745 FLNC G>A	7	128488745	128488745	G	A	FLNC	c.4711G>A	NM_001458.5	NP_001449.3:p.(Glu1571Lys)	NC_000007.13:g.128488745G>A	VUS	4 labs	9a21c6e2ac
20:61460124 COL9A3 G>A	20	61460124	61460124	G	A	COL9A3	c.909G>A	NM_001853.4	NP_001844.3:p.(Pro303=)	NC_000020.10:g.61460124G>A	(Likely) benign	4 labs	9a286bd597
3:38622467 SCN5A T>C	3	38622467	38622467	T	C	SCN5A	c.3183A>G	NM_001099404.2	NP_001092874.1:p.(Glu1061=)	NC_000003.11:g.38622467T>C	(Likely) benign	3 labs	9a33875f31
13:32953888 BRCA2 T>TA	13	32953888	32953889	T	TA	BRCA2	c.8956dup	NM_000059.4	NP_000050.3:p.(Ile2986AsnfsTer32)	NC_000013.10:g.32953889dup	(Likely) pathogenic	3 labs	9a33d05979
12:103352171 ASCL1 CGCA>C	12	103352171	103352208	CGCA	C	ASCL1	c.184_186del	NM_004316.4	NP_004307.2:p.(Gln62del)	NC_000012.11:g.103352206_103352208del	(Likely) benign	2 labs	9a40329ca5
8:144996159 PLEC C>T	8	144996159	144996159	C	T	PLEC	c.8241G>A	NM_201380.4	NP_958782.1:p.(Ala2747=)	NC_000008.10:g.144996159C>T	(Likely) benign	2 labs	9a64b441fe
2:179453458 TTN G>A	2	179453458	179453458	G	A	TTN	c.62994C>T	NM_001267550.2	NP_001254479.2:p.(Tyr20998=)	NC_000002.11:g.179453458G>A	(Likely) benign	5 labs	9a6dde7e25
7:2587122 BRAT1 T>C	7	2587122	2587122	T	C	BRAT1	c.128-10A>G	NM_152743.4	NP_689956.2:p.?	NC_000007.13:g.2587122T>C	(Likely) benign	2 labs	9a72b45218
14:23899060 MYH7 G>A	14	23899060	23899060	G	A	MYH7	c.1062C>T	NM_000257.4	NP_000248.2:p.(Gly354=)	NC_000014.8:g.23899060G>A	(Likely) benign	4 labs	9a765320e6
10:95389041 PDE6C G>A	10	95389041	95389041	G	A	PDE6C	c.1098G>A	NM_006204.4	NP_006195.3:p.(Ala366=)	NC_000010.10:g.95389041G>A	(Likely) benign	2 labs	9a7c1a32a0
2:47639635 MSH2 G>A	2	47639635	47639635	G	A	MSH2	c.728G>A	NM_000251.3	NP_000242.1:p.(Arg243Gln)	NC_000002.11:g.47639635G>A	VUS	4 labs	9a8a626b7b
7:6017227 PMS2 G>A	7	6017227	6017227	G	A	PMS2	c.2437C>T	NM_000535.7	NP_000526.2:p.(Arg813Trp)	NC_000007.13:g.6017227G>A	VUS	3 labs	9aa32c00d4
9:79954415 VPS13A T>G	9	79954415	79954415	T	G	VPS13A	c.6379-17T>G	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79954415T>G	(Likely) benign	2 labs	9aa7e0f474
18:72998268 TSHZ1 T>C	18	72998268	72998268	T	C	TSHZ1	c.771T>C	NM_005786.6	NP_005777.3:p.(Asp257=)	NC_000018.9:g.72998268T>C	(Likely) benign	2 labs	9aab1a5992
1:228467130 OBSCN C>T	1	228467130	228467130	C	T	OBSCN	c.7381C>T	NM_052843.4	NP_443075.3:p.(Arg2461Cys)	NC_000001.10:g.228467130C>T	(Likely) benign	2 labs	9ac242e5b8
1:156106127 LMNA G>A	1	156106127	156106127	G	A	LMNA	c.1280G>A	NM_170707.4	NP_733821.1:p.(Arg427His)	NC_000001.10:g.156106127G>A	VUS	4 labs	9ad1cd52ca
X:13778321 OFD1 G>A	X	13778321	13778321	G	A	OFD1	c.1742G>A	NM_003611.3	NP_003602.1:p.(Cys581Tyr)	NC_000023.10:g.13778321G>A	(Likely) benign	2 labs	9ad9d32dc4
10:112581521 RBM20 C>T	10	112581521	112581521	C	T	RBM20	c.3144C>T	NM_001134363.3	NP_001127835.2:p.(Ser1048=)	NC_000010.10:g.112581521C>T	(Likely) benign	4 labs	9adc769327
17:41244780 BRCA1 ACTGT>A	17	41244780	41244788	ACTGT	A	BRCA1	c.2764_2767del	NM_007294.4	NP_009225.1:p.(Thr922LeufsTer77)	NC_000017.10:g.41244785_41244788del	(Likely) pathogenic	2 labs	9af440265e
12:33030863 PKP2 C>T	12	33030863	33030863	C	T	PKP2	c.951G>A	NM_004572.4	NP_004563.2:p.(Ala317=)	NC_000012.11:g.33030863C>T	(Likely) benign	3 labs	9b1089ee36
20:42744344 JPH2 C>T	20	42744344	42744344	C	T	JPH2	c.1971G>A	NM_020433.5	NP_065166.2:p.(Glu657=)	NC_000020.10:g.42744344C>T	(Likely) benign	5 labs	9b121a7d77
12:125448961 DHX37 G>A	12	125448961	125448961	G	A	DHX37	c.2024C>T	NM_032656.4	NP_116045.2:p.(Thr675Met)	NC_000012.11:g.125448961G>A	VUS	2 labs	9b151ae34d
2:228121101 COL4A3 G>T	2	228121101	228121101	G	T	COL4A3	c.976G>T	NM_000091.5	NP_000082.2:p.(Asp326Tyr)	NC_000002.11:g.228121101G>T	(Likely) benign	2 labs	9b21673362
6:7563983 DSP T>A	6	7563983	7563983	T	A	DSP	c.741G>A	NM_004415.4	NP_004406.2:p.(Ala247=)	NC_000006.11:g.7563983T>A	(Likely) benign	5 labs	9b2aa77493
12:103234285 PAH G>A	12	103234285	103234285	G	A	PAH	c.1208C>T	NM_000277.3	NP_000268.1:p.(Ala403Val)	NC_000012.11:g.103234285G>A	(Likely) pathogenic	5 labs	9b2d456e0e
12:5153947 KCNA5 C>T	12	5153947	5153947	C	T	KCNA5	c.634C>T	NM_002234.4	NP_002225.2:p.(Arg212Cys)	NC_000012.11:g.5153947C>T	(Likely) benign	2 labs	9b2fe27896
6:112437143 LAMA4 T>C	6	112437143	112437143	T	C	LAMA4	c.5014A>G	NM_002290.5	NP_002281.3:p.(Arg1672Gly)	NC_000006.11:g.112437143T>C	VUS	2 labs	9b3726ffa4
16:50745330 NOD2 AG>A	16	50745330	50745337	AG	A	NOD2	c.1515del	NM_022162.3	NP_071445.1:p.(Ser506ProfsTer11)	NC_000016.9:g.50745337del	VUS	2 labs	9b37d37099
18:58039473 MC4R T>A	18	58039473	58039473	T	A	MC4R	c.110A>T	NM_005912.3	NP_005903.2:p.(Asp37Val)	NC_000018.9:g.58039473T>A	(Likely) benign	4 labs	9b3a2e4782
5:235268 SDHA C>T	5	235268	235268	C	T	SDHA	c.1074C>T	NM_004168.4	NP_004159.2:p.(Gly358=)	NC_000005.9:g.235268C>T	(Likely) benign	3 labs	9b5eed9ce7
1:156848995 NTRK1 C>T	1	156848995	156848995	C	T	NTRK1	c.1887C>T	NM_002529.4	NP_002520.2:p.(Ala629=)	NC_000001.10:g.156848995C>T	(Likely) benign	3 labs	9b66f31acb
2:109522815 EDAR G>A	2	109522815	109522815	G	A	EDAR	c.973C>T	NM_022336.4	NP_071731.1:p.(Arg325Trp)	NC_000002.11:g.109522815G>A	(Likely) pathogenic	2 labs	9b727c8f5f
11:824789 PNPLA2 T>C	11	824789	824789	T	C	PNPLA2	c.1442T>C	NM_020376.4	NP_065109.1:p.(Leu481Pro)	NC_000011.9:g.824789T>C	(Likely) benign	2 labs	9b7747b3ff
5:112111309 APC TA>T	5	112111309	112111322	TA	T	APC	c.423-4del	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111322del	(Likely) benign	4 labs	9b7b87a8d4
20:21689216 PAX1 G>A	20	21689216	21689216	G	A	PAX1	c.937G>A	NM_001257096.2	NP_001244025.1:p.(Gly313Ser)	NC_000020.10:g.21689216G>A	VUS	2 labs	9b7fa4b836
11:47603733 NDUFS3 G>C	11	47603733	47603733	G	C	NDUFS3	c.475G>C	NM_004551.3	NP_004542.1:p.(Val159Leu)	NC_000011.9:g.47603733G>C	VUS	2 labs	9b8a4820f3
18:28681931 DSC2 C>T	18	28681931	28681931	C	T	DSC2	c.4G>A	NM_024422.6	NP_077740.1:p.(Glu2Lys)	NC_000018.9:g.28681931C>T	VUS	2 labs	9b9e663963
15:89860653 POLG G>T	15	89860653	89860653	G	T	POLG	c.3597C>A	NM_002693.3	NP_002684.1:p.(Thr1199=)	NC_000015.9:g.89860653G>T	(Likely) benign	4 labs	9ba6604d80
4:79284694 FRAS1 C>T	4	79284694	79284694	C	T	FRAS1	c.2450C>T	NM_025074.7	NP_079350.5:p.(Ala817Val)	NC_000004.11:g.79284694C>T	(Likely) benign	2 labs	9ba6d43e5d
2:179654789 TTN G>C	2	179654789	179654789	G	C	TTN	c.1854C>G	NM_001267550.2	NP_001254479.2:p.(Pro618=)	NC_000002.11:g.179654789G>C	(Likely) benign	2 labs	9bbe3c0fdb
1:156106204 LMNA C>T	1	156106204	156106204	C	T	LMNA	c.1357C>T	NM_170707.4	NP_733821.1:p.(Arg453Trp)	NC_000001.10:g.156106204C>T	(Likely) pathogenic	2 labs	9bbe7eb9f5
20:30418897 MYLK2 C>A	20	30418897	30418897	C	A	MYLK2	c.1377C>A	NM_033118.4	NP_149109.1:p.(Ile459=)	NC_000020.10:g.30418897C>A	(Likely) benign	2 labs	9bd089f87e
7:50611688 DDC G>A	7	50611688	50611688	G	A	DDC	c.96C>T	NM_001082971.2	NP_001076440.2:p.(Asp32=)	NC_000007.13:g.50611688G>A	(Likely) benign	3 labs	9bd0bb787a
2:21225597 APOB A>T	2	21225597	21225597	A	T	APOB	c.12697T>A	NM_000384.3	NP_000375.3:p.(Ser4233Thr)	NC_000002.11:g.21225597A>T	(Likely) benign	2 labs	9bdc157fdc
5:223625 SDHA G>A	5	223625	223625	G	A	SDHA	c.92G>A	NM_004168.4	NP_004159.2:p.(Arg31Gln)	NC_000005.9:g.223625G>A	VUS	2 labs	9bdd3ffaa9
21:46320313 ITGB2 C>T	21	46320313	46320313	C	T	ITGB2	c.819G>A	NM_000211.5	NP_000202.3:p.(Gly273=)	NC_000021.8:g.46320313C>T	(Likely) benign	2 labs	9be2f18120
14:23902310 MYH7 C>T	14	23902310	23902310	C	T	MYH7	c.328G>A	NM_000257.4	NP_000248.2:p.(Gly110Ser)	NC_000014.8:g.23902310C>T	VUS	4 labs	9be6dc960e
6:123869607 TRDN G>C	6	123869607	123869607	G	C	TRDN	c.383C>G	NM_006073.4	NP_006064.2:p.(Thr128Ser)	NC_000006.11:g.123869607G>C	(Likely) benign	2 labs	9becefce6c
9:100617021 FOXE1 C>T	9	100617021	100617021	C	T	FOXE1	c.825C>T	NM_004473.4	NP_004464.2:p.(Ser275=)	NC_000009.11:g.100617021C>T	(Likely) benign	2 labs	9bf8806c0a
3:48604428 COL7A1 C>T	3	48604428	48604428	C	T	COL7A1	c.8138G>A	NM_000094.4	NP_000085.1:p.(Gly2713Asp)	NC_000003.11:g.48604428C>T	(Likely) pathogenic	2 labs	9c117a6c5d
17:75401190 SEPTIN9 G>A	17	75401190	75401190	G	A	SEPTIN9	c.667+2405G>A	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75401190G>A	(Likely) benign	2 labs	9c1bcfef75
19:45856015 ERCC2 G>A	19	45856015	45856015	G	A	ERCC2	c.1891C>T	NM_000400.4	NP_000391.1:p.(Arg631Cys)	NC_000019.9:g.45856015G>A	VUS	2 labs	9c27c55bba
14:23885298 MYH7 T>C	14	23885298	23885298	T	C	MYH7	c.4868A>G	NM_000257.4	NP_000248.2:p.(Asn1623Ser)	NC_000014.8:g.23885298T>C	VUS	4 labs	9c2ba42b88
2:179544058 TTN G>A	2	179544058	179544058	G	A	TTN	c.33742+8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544058G>A	(Likely) benign	2 labs	9c348033d4
1:247597502 NLRP3 G>A	1	247597502	247597502	G	A	NLRP3	c.2419G>A	NM_001243133.2	NP_001230062.1:p.(Ala807Thr)	NC_000001.10:g.247597502G>A	(Likely) benign	2 labs	9c3c7e7c8e
19:50805138 MYH14 C>T	19	50805138	50805138	C	T	MYH14	c.5678+12C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50805138C>T	(Likely) benign	2 labs	9c52a317e1
X:13778502 OFD1 G>A	X	13778502	13778502	G	A	OFD1	c.1923G>A	NM_003611.3	NP_003602.1:p.(Glu641=)	NC_000023.10:g.13778502G>A	(Likely) benign	4 labs	9c56342608
2:179579254 TTN A>G	2	179579254	179579254	A	G	TTN	c.26247T>C	NM_001267550.2	NP_001254479.2:p.(Val8749=)	NC_000002.11:g.179579254A>G	(Likely) benign	2 labs	9c5749196d
9:135139901 SETX T>C	9	135139901	135139901	T	C	SETX	c.7759A>G	NM_015046.7	NP_055861.3:p.(Ile2587Val)	NC_000009.11:g.135139901T>C	(Likely) benign	5 labs	9c60a7258d
7:151878907 KMT2C C>T	7	151878907	151878907	C	T	KMT2C	c.6038G>A	NM_170606.3	NP_733751.2:p.(Arg2013Lys)	NC_000007.13:g.151878907C>T	(Likely) benign	2 labs	9c625d243b
14:54416976 BMP4 G>T	14	54416976	54416976	G	T	BMP4	c.1001C>A	NM_001202.6	NP_001193.2:p.(Ala334Asp)	NC_000014.8:g.54416976G>T	VUS	2 labs	9c70716aa5
3:10188265 VHL T>G	3	10188265	10188265	T	G	VHL	c.408T>G	NM_000551.4	NP_000542.1:p.(Phe136Leu)	NC_000003.11:g.10188265T>G	VUS	2 labs	9c70f18957
12:48238757 VDR A>G	12	48238757	48238757	A	G	VDR	c.1206T>C	NM_001017536.2	NP_001017536.1:p.(Ile402=)	NC_000012.11:g.48238757A>G	(Likely) benign	2 labs	9c7e8139fb
5:16617099 RETREG1 A>G	5	16617099	16617099	A	G	RETREG1	c.-19T>C	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16617099A>G	(Likely) benign	2 labs	9c868bd5f2
3:4712460 ITPR1 A>G	3	4712460	4712460	A	G	ITPR1	c.2009A>G	NM_001168272.2	NP_001161744.1:p.(Glu670Gly)	NC_000003.11:g.4712460A>G	VUS	2 labs	9c8e3a32d7
15:49034159 CEP152 T>C	15	49034159	49034159	T	C	CEP152	c.3974A>G	NM_001194998.2	NP_001181927.1:p.(Asp1325Gly)	NC_000015.9:g.49034159T>C	VUS	2 labs	9c9a7a7aae
7:140501302 BRAF T>C	7	140501302	140501302	T	C	BRAF	c.770A>G	NM_004333.6	NP_004324.2:p.(Gln257Arg)	NC_000007.13:g.140501302T>C	(Likely) pathogenic	3 labs	9ca8cf0f1e
8:17916887 ASAH1 G>A	8	17916887	17916887	G	A	ASAH1	c.1004C>T	NM_177924.5	NP_808592.2:p.(Thr335Met)	NC_000008.10:g.17916887G>A	VUS	4 labs	9cb2c687e7
10:112572458 RBM20 G>C	10	112572458	112572458	G	C	RBM20	c.2303=	NM_001134363.3	NP_001127835.2:p.(Ser768=)	NC_000010.10:g.112572458G>C	(Likely) benign	3 labs	9cb6749d07
7:121758435 AASS T>A	7	121758435	121758435	T	A	AASS	c.613A>T	NM_005763.4	NP_005754.2:p.(Ile205Leu)	NC_000007.13:g.121758435T>A	VUS	2 labs	9cca49f331
19:18279638 PIK3R2 T>C	19	18279638	18279638	T	C	PIK3R2	c.1911T>C	NM_005027.4	NP_005018.2:p.(Ser637=)	NC_000019.9:g.18279638T>C	(Likely) benign	3 labs	9d0063b7ab
22:32887150 FBXO7 C>T	22	32887150	32887150	C	T	FBXO7	c.949C>T	NM_012179.4	NP_036311.3:p.(Leu317=)	NC_000022.10:g.32887150C>T	(Likely) benign	3 labs	9d0891ebfa
22:17662699 ADA2 A>G	22	17662699	17662699	A	G	ADA2	c.1442+11T>C	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17662699A>G	(Likely) benign	3 labs	9d0ab9a950
2:190430177 SLC40A1 A>G	2	190430177	190430177	A	G	SLC40A1	c.663T>C	NM_014585.6	NP_055400.1:p.(Val221=)	NC_000002.11:g.190430177A>G	(Likely) benign	2 labs	9d2120a782
2:179425820 TTN T>C	2	179425820	179425820	T	C	TTN	c.80116A>G	NM_001256850.1	NP_001243779.1:p.(Ile26706Val)	NC_000002.11:g.179425820T>C	VUS	2 labs	9d275d2bda
6:66005927 EYS C>T	6	66005927	66005927	C	T	EYS	c.1852G>A	NM_001142800.2	NP_001136272.1:p.(Gly618Ser)	NC_000006.11:g.66005927C>T	VUS	3 labs	9d286005f2
16:68863659 CDH1 C>T	16	68863659	68863659	C	T	CDH1	c.2398C>T	NM_004360.5	NP_004351.1:p.(Arg800Cys)	NC_000016.9:g.68863659C>T	VUS	2 labs	9d2bd66697
20:25058398 VSX1 T>C	20	25058398	25058398	T	C	VSX1	c.731A>G	NM_001256272.2	NP_001243201.1:p.(His244Arg)	NC_000020.10:g.25058398T>C	(Likely) benign	2 labs	9d40ef074a
11:6415245 SMPD1 C>T	11	6415245	6415245	C	T	SMPD1	c.1460C>T	NM_000543.5	NP_000534.3:p.(Ala487Val)	NC_000011.9:g.6415245C>T	(Likely) benign	3 labs	9d4e642af1
3:78988036 ROBO1 C>T	3	78988036	78988036	C	T	ROBO1	c.97G>A	NM_133631.4	NP_598334.2:p.(Glu33Lys)	NC_000003.11:g.78988036C>T	VUS	2 labs	9d53ef54aa
9:136435473 ADAMTSL2 C>T	9	136435473	136435473	C	T	ADAMTSL2	c.2436C>T	NM_001145320.2	NP_001138792.1:p.(Arg812=)	NC_000009.11:g.136435473C>T	(Likely) benign	3 labs	9d5b51c858
3:142272170 ATR A>G	3	142272170	142272170	A	G	ATR	c.2704T>C	NM_001184.4	NP_001175.2:p.(Ser902Pro)	NC_000003.11:g.142272170A>G	VUS	2 labs	9d5c4e1a9d
17:7810708 CHD3 G>A	17	7810708	7810708	G	A	CHD3	c.5003G>A	NM_001005271.3	NP_001005271.2:p.(Arg1668Gln)	NC_000017.10:g.7810708G>A	(Likely) benign	2 labs	9d6b92df99
4:17513556 QDPR C>T	4	17513556	17513556	C	T	QDPR	c.105+17G>A	NM_000320.3	NP_000311.2:p.?	NC_000004.11:g.17513556C>T	(Likely) benign	2 labs	9d6d2bd660
7:117199644 CFTR ATCT>A	7	117199644	117199648	ATCT	A	CFTR	c.1521_1523del	NM_000492.4	NP_000483.3:p.(Phe508del)	NC_000007.13:g.117199646_117199648del	(Likely) pathogenic	5 labs	9d6ff14786
17:59533867 TBX4 G>A	17	59533867	59533867	G	A	TBX4	c.16G>A	NM_018488.3	NP_060958.2:p.(Gly6Ser)	NC_000017.10:g.59533867G>A	(Likely) benign	2 labs	9d75276325
1:156104617 LMNA C>T	1	156104617	156104617	C	T	LMNA	c.661C>T	NM_170707.4	NP_733821.1:p.(Arg221Cys)	NC_000001.10:g.156104617C>T	VUS	3 labs	9da479feea
7:21726874 DNAH11 G>A	7	21726874	21726874	G	A	DNAH11	c.5778+1G>A	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21726874G>A	(Likely) pathogenic	3 labs	9d760ae5eb
17:78346840 RNF213 G>A	17	78346840	78346840	G	A	RNF213	c.12817G>A	NM_001256071.3	NP_001243000.2:p.(Asp4273Asn)	NC_000017.10:g.78346840G>A	(Likely) benign	2 labs	9d76aa1712
18:72345692 ZNF407 G>A	18	72345692	72345692	G	A	ZNF407	c.2717G>A	NM_017757.3	NP_060227.2:p.(Arg906Gln)	NC_000018.9:g.72345692G>A	VUS	2 labs	9d7e010baa
10:95549836 LGI1 C>CTT	10	95549836	95549851	C	CTT	LGI1	c.432-6_432-5dup	NM_005097.4	NP_005088.1:p.?	NC_000010.10:g.95549850_95549851dup	(Likely) benign	2 labs	9dc459a4e0
2:121747166 GLI2 C>T	2	121747166	121747166	C	T	GLI2	c.3676C>T	NM_005270.5	NP_005261.2:p.(Arg1226Ter)	NC_000002.11:g.121747166C>T	(Likely) pathogenic	2 labs	9dcadacb24
10:121432131 BAG3 C>T	10	121432131	121432131	C	T	BAG3	c.872C>T	NM_004281.4	NP_004272.2:p.(Ser291Leu)	NC_000010.10:g.121432131C>T	VUS	2 labs	9dd905ecf6
10:18439784 CACNB2 CT>C	10	18439784	18439809	CT	C	CACNB2	c.37-3del	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809del	(Likely) benign	2 labs	9de45a2e7d
17:37821953 TCAP C>G	17	37821953	37821953	C	G	TCAP	c.111-16C>G	NM_003673.4	NP_003664.1:p.?	NC_000017.10:g.37821953C>G	(Likely) benign	3 labs	9de83909bb
18:21115460 NPC1 G>A	18	21115460	21115460	G	A	NPC1	c.3450C>T	NM_000271.5	NP_000262.2:p.(Asn1150=)	NC_000018.9:g.21115460G>A	(Likely) benign	3 labs	9dec47f226
1:169551682 F5 T>C	1	169551682	169551682	T	C	F5	c.237A>G	NM_000130.5	NP_000121.2:p.(Gln79=)	NC_000001.10:g.169551682T>C	(Likely) benign	2 labs	9dec9f691b
10:69959174 MYPN C>T	10	69959174	69959174	C	T	MYPN	c.2453C>T	NM_001256268.2	NP_001243197.1:p.(Pro818Leu)	NC_000010.10:g.69959174C>T	(Likely) benign	5 labs	9dedb8e2dd
2:179642664 TTN C>T	2	179642664	179642664	C	T	TTN	c.4247G>A	NM_001267550.2	NP_001254479.2:p.(Arg1416His)	NC_000002.11:g.179642664C>T	VUS	2 labs	9df21778d7
15:73614857 HCN4 C>G	15	73614857	73614857	C	G	HCN4	c.3577G>C	NM_005477.3	NP_005468.1:p.(Glu1193Gln)	NC_000015.9:g.73614857C>G	(Likely) benign	5 labs	9df71b0c8f
2:179475004 TTN G>T	2	179475004	179475004	G	T	TTN	c.51249C>A	NM_001267550.2	NP_001254479.2:p.(Val17083=)	NC_000002.11:g.179475004G>T	(Likely) benign	2 labs	9dfa24cce2
10:26463130 MYO3A C>A	10	26463130	26463130	C	A	MYO3A	c.3937C>A	NM_017433.5	NP_059129.3:p.(Arg1313Ser)	NC_000010.10:g.26463130C>A	(Likely) benign	2 labs	9e02260bf1
14:23859389 MYH6 G>C	14	23859389	23859389	G	C	MYH6	c.3609C>G	NM_002471.4	NP_002462.2:p.(Ala1203=)	NC_000014.8:g.23859389G>C	(Likely) benign	3 labs	9e08e6539e
16:3293310 MEFV A>G	16	3293310	3293310	A	G	MEFV	c.2177T>C	NM_000243.2	NP_000234.1:p.(Val726Ala)	NC_000016.9:g.3293310A>G	(Likely) pathogenic	6 labs	9e0f9451c8
17:78013724 CCDC40 G>C	17	78013724	78013724	G	C	CCDC40	c.207G>C	NM_017950.4	NP_060420.2:p.(Val69=)	NC_000017.10:g.78013724G>C	(Likely) benign	2 labs	9e1b6c22b2
2:179590714 TTN T>A	2	179590714	179590714	T	A	TTN	c.20335A>T	NM_001267550.2	NP_001254479.2:p.(Ser6779Cys)	NC_000002.11:g.179590714T>A	(Likely) benign	4 labs	9e1bd9900c
12:49440409 KMT2D G>A	12	49440409	49440409	G	A	KMT2D	c.4401C>T	NM_003482.4	NP_003473.3:p.(Gly1467=)	NC_000012.11:g.49440409G>A	(Likely) benign	2 labs	9e1c28378f
18:25572624 CDH2 C>A	18	25572624	25572624	C	A	CDH2	c.1339G>T	NM_001792.5	NP_001783.2:p.(Val447Phe)	NC_000018.9:g.25572624C>A	VUS	2 labs	9e2fe5d719
2:21228237 APOB T>G	2	21228237	21228237	T	G	APOB	c.11503A>C	NM_000384.3	NP_000375.3:p.(Ile3835Leu)	NC_000002.11:g.21228237T>G	(Likely) benign	2 labs	9e3d451a3e
X:153641885 TAFAZZIN G>A	X	153641885	153641885	G	A	TAFAZZIN	c.351G>A	NM_000116.5	NP_000107.1:p.(Lys117=)	NC_000023.10:g.153641885G>A	(Likely) benign	3 labs	9e3f1fd0ac
9:79999547 VPS13A GTGATGATGATGATGA>G	9	79999547	79999580	GTGATGATGATGATGA	G	VPS13A	c.9255_9269del	NM_015186.4	NP_056001.1:p.(Asp3085_Asp3089del)	NC_000009.11:g.79999566_79999580del	VUS	2 labs	9e44d768d2
3:48508977 TREX1 C>G	3	48508977	48508977	C	G	TREX1	c.923C>G	NM_033629.6	NP_338599.1:p.(Ser308Cys)	NC_000003.11:g.48508977C>G	VUS	3 labs	9e4f4455a1
1:237955507 RYR2 G>A	1	237955507	237955507	G	A	RYR2	c.13666G>A	NM_001035.3	NP_001026.2:p.(Ala4556Thr)	NC_000001.10:g.237955507G>A	(Likely) benign	2 labs	9e5593a8e0
11:66293652 BBS1 T>G	11	66293652	66293652	T	G	BBS1	c.1169T>G	NM_024649.5	NP_078925.3:p.(Met390Arg)	NC_000011.9:g.66293652T>G	(Likely) pathogenic	5 labs	9e5a7c20b6
16:88496008 ZNF469 T>C	16	88496008	88496008	T	C	ZNF469	c.2130T>C	NM_001367624.2	NP_001354553.1:p.(Pro710=)	NC_000016.9:g.88496008T>C	(Likely) benign	3 labs	9e5b49541d
10:75868861 VCL A>G	10	75868861	75868861	A	G	VCL	c.2692A>G	NM_014000.3	NP_054706.1:p.(Met898Val)	NC_000010.10:g.75868861A>G	VUS	2 labs	9e5c4a1715
14:23855835 MYH6 G>T	14	23855835	23855835	G	T	MYH6	c.4651-3C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855835G>T	(Likely) benign	3 labs	9e6b00e8a8
X:119576454 LAMP2 C>T	X	119576454	119576454	C	T	LAMP2	c.928G>A	NM_002294.3	NP_002285.1:p.(Val310Ile)	NC_000023.10:g.119576454C>T	(Likely) pathogenic	3 labs	9e6ec626ee
4:79387586 FRAS1 A>G	4	79387586	79387586	A	G	FRAS1	c.7254A>G	NM_025074.7	NP_079350.5:p.(Lys2418=)	NC_000004.11:g.79387586A>G	(Likely) benign	2 labs	9e7df2ef78
8:70533481 SULF1 C>T	8	70533481	70533481	C	T	SULF1	c.1589C>T	NM_001128205.2	NP_001121677.1:p.(Thr530Ile)	NC_000008.10:g.70533481C>T	VUS	2 labs	9e7e8f2c76
6:56417282 DST C>T	6	56417282	56417282	C	T	DST	c.9951G>A	NM_001144769.5	NP_001138241.1:p.(Met3317Ile)	NC_000006.11:g.56417282C>T	(Likely) benign	2 labs	9e8c5b5d03
X:69176971 EDA A>C	X	69176971	69176971	A	C	EDA	c.491A>C	NM_001399.5	NP_001390.1:p.(Glu164Ala)	NC_000023.10:g.69176971A>C	(Likely) benign	2 labs	9e8fbeaae8
X:100653079 GLA G>A	X	100653079	100653079	G	A	GLA	c.1008C>T	NM_000169.3	NP_000160.1:p.(Asn336=)	NC_000023.10:g.100653079G>A	(Likely) benign	2 labs	9e922877b2
6:157099402 ARID1B C>CCAGCAG	6	157099402	157099425	C	CCAGCAG	ARID1B	c.606_611dup	NM_001371656.1	NP_001358585.1:p.(Gln213_Gln214dup)	NC_000006.11:g.157099420_157099425dup	(Likely) benign	3 labs	9e9ff071b0
10:97366703 ALDH18A1 G>A	10	97366703	97366703	G	A	ALDH18A1	c.2207-3C>T	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97366703G>A	(Likely) benign	3 labs	9eb13aa2e3
10:112541505 RBM20 C>T	10	112541505	112541505	C	T	RBM20	c.1138C>T	NM_001134363.3	NP_001127835.2:p.(Arg380Trp)	NC_000010.10:g.112541505C>T	VUS	2 labs	9ec783f6b1
16:904599 LMF1 G>A	16	904599	904599	G	A	LMF1	c.1637C>T	NM_022773.4	NP_073610.2:p.(Pro546Leu)	NC_000016.9:g.904599G>A	VUS	2 labs	9ec99df808
7:6037057 PMS2 GAA>G	7	6037057	6037074	GAA	G	PMS2	c.706-5_706-4del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037073_6037074del	(Likely) benign	4 labs	9ed3e3bbb2
16:66562930 TK2 G>A	16	66562930	66562930	G	A	TK2	c.416C>T	NM_004614.5	NP_004605.4:p.(Ala139Val)	NC_000016.9:g.66562930G>A	(Likely) pathogenic	2 labs	9eeb2a379a
18:28666526 DSC2 T>TTAA	18	28666526	28666528	T	TTAA	DSC2	c.942+12_942+13insTTA	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28666527_28666528insAAT	(Likely) benign	5 labs	9eef33035b
X:53423417 SMC1A G>C	X	53423417	53423417	G	C	SMC1A	c.2683C>G	NM_006306.4	NP_006297.2:p.(Arg895Gly)	NC_000023.10:g.53423417G>C	(Likely) pathogenic	2 labs	9ef04ceb89
19:11224058 LDLR G>A	19	11224058	11224058	G	A	LDLR	c.1291G>A	NM_000527.5	NP_000518.1:p.(Ala431Thr)	NC_000019.9:g.11224058G>A	(Likely) pathogenic	2 labs	9f06bfe0d6
7:117292931 CFTR C>G	7	117292931	117292931	C	G	CFTR	c.3909C>G	NM_000492.4	NP_000483.3:p.(Asn1303Lys)	NC_000007.13:g.117292931C>G	(Likely) pathogenic	4 labs	9f0afda994
2:179393691 TTN G>A	2	179393691	179393691	G	A	TTN	c.106787C>T	NM_001267550.2	NP_001254479.2:p.(Thr35596Ile)	NC_000002.11:g.179393691G>A	(Likely) benign	6 labs	9f0ffd5ec6
11:17598191 OTOG G>A	11	17598191	17598191	G	A	OTOG	c.2597+14G>A	NM_001277269.2	NP_001264198.1:p.?	NC_000011.9:g.17598191G>A	(Likely) benign	2 labs	9f2a5b964c
16:88502505 ZNF469 A>G	16	88502505	88502505	A	G	ZNF469	c.8627A>G	NM_001367624.2	NP_001354553.1:p.(His2876Arg)	NC_000016.9:g.88502505A>G	(Likely) benign	3 labs	9f3193ee23
X:153296382 MECP2 G>A	X	153296382	153296382	G	A	MECP2	c.897C>T	NM_004992.4	NP_004983.1:p.(Thr299=)	NC_000023.10:g.153296382G>A	(Likely) benign	4 labs	9f3436105b
6:76624741 MYO6 C>T	6	76624741	76624741	C	T	MYO6	c.*12C>T	NM_004999.4	NP_004990.3:p.?	NC_000006.11:g.76624741C>T	(Likely) benign	2 labs	9f3517b4c9
10:69966587 MYPN C>T	10	69966587	69966587	C	T	MYPN	c.2838C>T	NM_001256268.2	NP_001243197.1:p.(Asp946=)	NC_000010.10:g.69966587C>T	(Likely) benign	5 labs	9f4ef447d9
17:68171796 KCNJ2 G>A	17	68171796	68171796	G	A	KCNJ2	c.616G>A	NM_000891.3	NP_000882.1:p.(Gly206Ser)	NC_000017.10:g.68171796G>A	VUS	3 labs	9f5916722a
11:2591963 KCNQ1 C>T	11	2591963	2591963	C	T	KCNQ1	c.583C>T	NM_000218.3	NP_000209.2:p.(Arg195Trp)	NC_000011.9:g.2591963C>T	VUS	2 labs	9f59856e1f
4:114286357 ANK2 ATG>A	4	114286357	114286388	ATG	A	ANK2	c.11032+49_11032+50del	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286387_114286388del	(Likely) benign	3 labs	9f638c4235
1:155880573 RIT1 C>G	1	155880573	155880573	C	G	RIT1	c.31G>C	NM_001256821.2	NP_001243750.1:p.(Glu11Gln)	NC_000001.10:g.155880573C>G	(Likely) benign	2 labs	9f702e2a12
16:23649212 PALB2 C>A	16	23649212	23649212	C	A	PALB2	c.170G>T	NM_024675.4	NP_078951.2:p.(Cys57Phe)	NC_000016.9:g.23649212C>A	(Likely) benign	3 labs	9f89f0d092
X:129299559 AIFM1 G>A	X	129299559	129299559	G	A	AIFM1	c.72C>T	NM_001130847.4	NP_001124319.1:p.(Cys24=)	NC_000023.10:g.129299559G>A	(Likely) benign	4 labs	9f8a0662af
4:88584160 DMP1 G>A	4	88584160	88584160	G	A	DMP1	c.1230G>A	NM_004407.4	NP_004398.1:p.(Glu410=)	NC_000004.11:g.88584160G>A	(Likely) benign	2 labs	9f95d01542
2:179611040 TTN C>T	2	179611040	179611040	C	T	TTN	c.16087G>A	NM_133379.5	NP_596870.2:p.(Glu5363Lys)	NC_000002.11:g.179611040C>T	(Likely) benign	3 labs	9f9b617fa0
2:179602914 TTN T>C	2	179602914	179602914	T	C	TTN	c.13315A>G	NM_001256850.1	NP_001243779.1:p.(Ser4439Gly)	NC_000002.11:g.179602914T>C	VUS	2 labs	9faa0b3559
2:58431305 FANCL GA>G	2	58431305	58431307	GA	G	FANCL	c.430del	NM_001114636.1	NP_001108108.1:p.(Ser144LeufsTer6)	NC_000002.11:g.58431307del	(Likely) pathogenic	2 labs	9fac54072a
2:21230736 APOB G>A	2	21230736	21230736	G	A	APOB	c.9004C>T	NM_000384.3	NP_000375.3:p.(Leu3002=)	NC_000002.11:g.21230736G>A	(Likely) benign	2 labs	9fb1837b2c
7:128494081 FLNC C>T	7	128494081	128494081	C	T	FLNC	c.6538C>T	NM_001458.5	NP_001449.3:p.(Arg2180Cys)	NC_000007.13:g.128494081C>T	VUS	2 labs	9fb54840f4
1:201341175 TNNT2 CAGAAG>C	1	201341175	201341185	CAGAAG	C	TNNT2	c.53-11_53-7del	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201341181_201341185del	(Likely) benign	5 labs	9fbd6900f0
11:108098418 ATM C>T	11	108098418	108098418	C	T	ATM	c.67C>T	NM_001351834.2	NP_001338763.1:p.(Arg23Ter)	NC_000011.9:g.108098418C>T	(Likely) pathogenic	3 labs	9fbfc56726
2:21225354 APOB T>C	2	21225354	21225354	T	C	APOB	c.12940A>G	NM_000384.3	NP_000375.3:p.(Ile4314Val)	NC_000002.11:g.21225354T>C	(Likely) benign	3 labs	9fc066e14b
7:42064852 GLI3 C>G	7	42064852	42064852	C	G	GLI3	c.1356+11G>C	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42064852C>G	(Likely) benign	2 labs	9fc5410451
15:73617720 HCN4 G>A	15	73617720	73617720	G	A	HCN4	c.1656C>T	NM_005477.3	NP_005468.1:p.(His552=)	NC_000015.9:g.73617720G>A	(Likely) benign	4 labs	9fc7166e9e
1:237774118 RYR2 G>A	1	237774118	237774118	G	A	RYR2	c.4740G>A	NM_001035.3	NP_001026.2:p.(Pro1580=)	NC_000001.10:g.237774118G>A	(Likely) benign	2 labs	9fcbea4dec
X:128691930 OCRL A>G	X	128691930	128691930	A	G	OCRL	c.439+3A>G	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128691930A>G	(Likely) benign	5 labs	9fd5f021b9
17:46608030 HOXB1 G>A	17	46608030	46608030	G	A	HOXB1	c.237C>T	NM_002144.4	NP_002135.2:p.(Ser79=)	NC_000017.10:g.46608030G>A	(Likely) benign	2 labs	9fda5cda1a
15:89399992 ACAN CGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGT>C	15	89399992	89400193	CGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGT	C	ACAN	c.4264_4377del	NM_013227.4	NP_037359.3:p.(Thr1422_Thr1459del)	NC_000015.9:g.89400080_89400193del	VUS	2 labs	9fe900edf3
4:149358014 NR3C2 G>C	4	149358014	149358014	G	C	NR3C2	c.-2C>G	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149358014G>C	(Likely) benign	2 labs	9ff95f1835
9:136433542 ADAMTSL2 C>T	9	136433542	136433542	C	T	ADAMTSL2	c.2022C>T	NM_001145320.2	NP_001138792.1:p.(Pro674=)	NC_000009.11:g.136433542C>T	(Likely) benign	2 labs	9ff963f0de
4:100543977 MTTP C>T	4	100543977	100543977	C	T	MTTP	c.2657C>T	NM_000253.4	NP_000244.2:p.(Pro886Leu)	NC_000004.11:g.100543977C>T	(Likely) benign	3 labs	9ffcfe0b4f
10:55755491 PCDH15 C>T	10	55755491	55755491	C	T	PCDH15	c.2801G>A	NM_001142771.2	NP_001136243.1:p.(Arg934Gln)	NC_000010.10:g.55755491C>T	(Likely) benign	2 labs	a004c7b5b3
3:15686975 BTD C>T	3	15686975	15686975	C	T	BTD	c.1552C>T	NM_001281723.3	NP_001268652.2:p.(Arg518Cys)	NC_000003.11:g.15686975C>T	(Likely) pathogenic	2 labs	a00b26149d
3:30691871 TGFBR2 GA>G	3	30691871	30691881	GA	G	TGFBR2	c.458del	NM_001024847.2	NP_001020018.1:p.(Lys153SerfsTer35)	NC_000003.11:g.30691881del	(Likely) benign	3 labs	a0144ca65b
7:92077203 GATAD1 G>A	7	92077203	92077203	G	A	GATAD1	c.160G>A	NM_021167.5	NP_066990.3:p.(Gly54Ser)	NC_000007.13:g.92077203G>A	(Likely) benign	2 labs	a01603e3d3
20:61040453 GATA5 C>G	20	61040453	61040453	C	G	GATA5	c.981G>C	NM_080473.5	NP_536721.1:p.(Ser327=)	NC_000020.10:g.61040453C>G	(Likely) benign	2 labs	a017f3c655
11:108196921 ATM T>C	11	108196921	108196921	T	C	ATM	c.6944T>C	NM_000051.4	NP_000042.3:p.(Met2315Thr)	NC_000011.9:g.108196921T>C	VUS	2 labs	a01d656eff
7:6017340 PMS2 T>C	7	6017340	6017340	T	C	PMS2	c.2324A>G	NM_000535.7	NP_000526.2:p.(Asn775Ser)	NC_000007.13:g.6017340T>C	(Likely) benign	6 labs	a0224d6fa0
2:179477744 TTN T>C	2	179477744	179477744	T	C	TTN	c.49704A>G	NM_001267550.2	NP_001254479.2:p.(Val16568=)	NC_000002.11:g.179477744T>C	(Likely) benign	4 labs	a047b113ca
5:180047863 FLT4 C>G	5	180047863	180047863	C	G	FLT4	c.2299+13G>C	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180047863C>G	(Likely) benign	2 labs	a049042f61
13:32936828 BRCA2 C>G	13	32936828	32936828	C	G	BRCA2	c.7974C>G	NM_000059.4	NP_000050.3:p.(Tyr2658Ter)	NC_000013.10:g.32936828C>G	(Likely) pathogenic	4 labs	a0524f53ac
2:220283434 DES G>A	2	220283434	220283434	G	A	DES	c.250G>A	NM_001927.4	NP_001918.3:p.(Gly84Ser)	NC_000002.11:g.220283434G>A	VUS	4 labs	a05e0ad738
5:1216769 SLC6A19 C>T	5	1216769	1216769	C	T	SLC6A19	c.984C>T	NM_001003841.3	NP_001003841.1:p.(Arg328=)	NC_000005.9:g.1216769C>T	(Likely) benign	3 labs	a0600e4f0b
2:179402200 TTN A>G	2	179402200	179402200	A	G	TTN	c.99734T>C	NM_001267550.2	NP_001254479.2:p.(Ile33245Thr)	NC_000002.11:g.179402200A>G	VUS	2 labs	a06469689f
4:39216221 WDR19 C>T	4	39216221	39216221	C	T	WDR19	c.891C>T	NM_025132.4	NP_079408.3:p.(Cys297=)	NC_000004.11:g.39216221C>T	(Likely) benign	2 labs	a06edbe061
X:31792316 DMD T>C	X	31792316	31792316	T	C	DMD	c.7310-7A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31792316T>C	(Likely) benign	6 labs	a0848c64bf
11:116661656 APOA5 G>A	11	116661656	116661656	G	A	APOA5	c.289C>T	NM_052968.5	NP_443200.2:p.(Gln97Ter)	NC_000011.9:g.116661656G>A	(Likely) pathogenic	2 labs	a08bbb517d
18:42618470 SETBP1 A>G	18	42618470	42618470	A	G	SETBP1	c.4021A>G	NM_015559.3	NP_056374.2:p.(Lys1341Glu)	NC_000018.9:g.42618470A>G	VUS	2 labs	a08d2a17a2
19:55663280 TNNI3 G>C	19	55663280	55663280	G	C	TNNI3	c.555C>G	NM_000363.5	NP_000354.4:p.(Asn185Lys)	NC_000019.9:g.55663280G>C	(Likely) pathogenic	2 labs	a091b41997
8:145741453 RECQL4 CCT>C	8	145741453	145741455	CCT	C	RECQL4	c.1048_1049del	NM_004260.4	NP_004251.4:p.(Arg350GlyfsTer21)	NC_000008.10:g.145741454_145741455del	(Likely) pathogenic	3 labs	a09ace9917
2:179611678 TTN G>A	2	179611678	179611678	G	A	TTN	c.15449C>T	NM_133379.5	NP_596870.2:p.(Thr5150Ile)	NC_000002.11:g.179611678G>A	VUS	2 labs	a09f9e5cba
16:2166084 PKD1 T>G	16	2166084	2166084	T	G	PKD1	c.1758A>C	NM_001009944.3	NP_001009944.3:p.(Glu586Asp)	NC_000016.9:g.2166084T>G	(Likely) benign	2 labs	a0a41565f6
2:21238324 APOB C>T	2	21238324	21238324	C	T	APOB	c.3426G>A	NM_000384.3	NP_000375.3:p.(Ser1142=)	NC_000002.11:g.21238324C>T	(Likely) benign	3 labs	a0afbc40cb
6:161152807 PLG G>A	6	161152807	161152807	G	A	PLG	c.1469G>A	NM_000301.5	NP_000292.1:p.(Arg490Gln)	NC_000006.11:g.161152807G>A	VUS	3 labs	a0c513e8d4
9:130698029 DPM2 G>C	9	130698029	130698029	G	C	DPM2	c.227C>G	NM_003863.4	NP_003854.1:p.(Thr76Ser)	NC_000009.11:g.130698029G>C	(Likely) benign	2 labs	a0cbaea866
7:42088222 GLI3 T>C	7	42088222	42088222	T	C	GLI3	c.547A>G	NM_000168.6	NP_000159.3:p.(Thr183Ala)	NC_000007.13:g.42088222T>C	(Likely) benign	4 labs	a0cf220aaa
22:17690429 ADA2 C>T	22	17690429	17690429	C	T	ADA2	c.139G>A	NM_001282225.2	NP_001269154.1:p.(Gly47Arg)	NC_000022.10:g.17690429C>T	(Likely) pathogenic	2 labs	a0ddee37ff
X:31947797 DMD G>A	X	31947797	31947797	G	A	DMD	c.6459C>T	NM_004010.3	NP_004001.1:p.(Pro2153=)	NC_000023.10:g.31947797G>A	(Likely) benign	3 labs	a0e67b441b
3:43618280 ANO10 T>C	3	43618280	43618280	T	C	ANO10	c.1066A>G	NM_001204831.3	NP_001191760.1:p.(Ser356Gly)	NC_000003.11:g.43618280T>C	(Likely) benign	3 labs	a0ea1982d2
19:41128309 LTBP4 C>T	19	41128309	41128309	C	T	LTBP4	c.3422C>T	NM_001042544.1	NP_001036009.1:p.(Thr1141Met)	NC_000019.9:g.41128309C>T	(Likely) benign	2 labs	a0f8d89343
5:16477751 RETREG1 C>A	5	16477751	16477751	C	A	RETREG1	c.1000+20G>T	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16477751C>A	(Likely) benign	2 labs	a0ff1c3440
3:10183772 VHL C>T	3	10183772	10183772	C	T	VHL	c.241C>T	NM_000551.4	NP_000542.1:p.(Pro81Ser)	NC_000003.11:g.10183772C>T	(Likely) benign	4 labs	a10877504d
3:58148980 FLNB G>A	3	58148980	58148980	G	A	FLNB	c.7121G>A	NM_001457.4	NP_001448.2:p.(Arg2374His)	NC_000003.11:g.58148980G>A	VUS	2 labs	a1090a7982
10:89653834 PTEN C>T	10	89653834	89653834	C	T	PTEN	c.651C>T	NM_001304717.5	NP_001291646.4:p.(Gly217=)	NC_000010.10:g.89653834C>T	(Likely) benign	5 labs	a111a18319
11:31816191 PAX6 C>A	11	31816191	31816191	C	A	PAX6	c.662A>T	NM_000280.5	NP_000271.1:p.(Gln221Leu)	NC_000011.9:g.31816191C>A	VUS	2 labs	a1145f5bba
6:7574938 DSP C>T	6	7574938	7574938	C	T	DSP	c.2346C>T	NM_004415.4	NP_004406.2:p.(Asp782=)	NC_000006.11:g.7574938C>T	(Likely) benign	6 labs	a1168d0b78
12:32955434 PKP2 G>C	12	32955434	32955434	G	C	PKP2	c.2202C>G	NM_004572.4	NP_004563.2:p.(Thr734=)	NC_000012.11:g.32955434G>C	(Likely) benign	2 labs	a120600b22
20:33533736 GSS A>C	20	33533736	33533736	A	C	GSS	c.275+20T>G	NM_000178.4	NP_000169.1:p.?	NC_000020.10:g.33533736A>C	(Likely) benign	2 labs	a1268a8310
17:41251845 BRCA1 A>G	17	41251845	41251845	A	G	BRCA1	c.494T>C	NM_007294.4	NP_009225.1:p.(Leu165Pro)	NC_000017.10:g.41251845A>G	(Likely) benign	5 labs	a12fe68967
4:980971 IDUA T>G	4	980971	980971	T	G	IDUA	c.99T>G	NM_000203.5	NP_000194.2:p.(His33Gln)	NC_000004.11:g.980971T>G	(Likely) benign	3 labs	a14848639b
3:48605522 COL7A1 C>G	3	48605522	48605522	C	G	COL7A1	c.7875+1G>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48605522C>G	(Likely) pathogenic	2 labs	a14b12a23b
1:103354138 COL11A1 A>G	1	103354138	103354138	A	G	COL11A1	c.4639T>C	NM_080629.3	NP_542196.2:p.(Ser1547Pro)	NC_000001.10:g.103354138A>G	(Likely) benign	2 labs	a14b9d890f
3:48625266 COL7A1 T>C	3	48625266	48625266	T	C	COL7A1	c.2817A>G	NM_000094.4	NP_000085.1:p.(Pro939=)	NC_000003.11:g.48625266T>C	(Likely) benign	2 labs	a14ba048ce
19:41919944 BCKDHA A>C	19	41919944	41919944	A	C	BCKDHA	c.376-10A>C	NM_000709.4	NP_000700.1:p.?	NC_000019.9:g.41919944A>C	(Likely) benign	2 labs	a14ef41d9c
7:100226902 TFR2 C>T	7	100226902	100226902	C	T	TFR2	c.1364G>A	NM_003227.4	NP_003218.2:p.(Arg455Gln)	NC_000007.13:g.100226902C>T	VUS	2 labs	a158097f71
11:116701535 APOC3 T>C	11	116701535	116701535	T	C	APOC3	c.102T>C	NM_000040.3	NP_000031.1:p.(Gly34=)	NC_000011.9:g.116701535T>C	(Likely) benign	3 labs	a159498cb7
2:179553826 TTN T>C	2	179553826	179553826	T	C	TTN	c.32049A>G	NM_001267550.2	NP_001254479.2:p.(Lys10683=)	NC_000002.11:g.179553826T>C	(Likely) benign	4 labs	a16d97cff6
7:117199533 CFTR G>A	7	117199533	117199533	G	A	CFTR	c.1408G>A	NM_000492.4	NP_000483.3:p.(Val470Met)	NC_000007.13:g.117199533G>A	(Likely) benign	4 labs	a1706b437a
3:142168331 ATR C>T	3	142168331	142168331	C	T	ATR	c.7875G>A	NM_001184.4	NP_001175.2:p.(Gln2625=)	NC_000003.11:g.142168331C>T	(Likely) benign	2 labs	a170a0a66a
11:102991197 DYNC2H1 C>T	11	102991197	102991197	C	T	DYNC2H1	c.1021C>T	NM_001080463.2	NP_001073932.1:p.(His341Tyr)	NC_000011.9:g.102991197C>T	(Likely) benign	3 labs	a1736c4db9
1:201330455 TNNT2 C>A	1	201330455	201330455	C	A	TNNT2	c.732G>T	NM_001276347.2	NP_001263276.1:p.(Glu244Asp)	NC_000001.10:g.201330455C>A	VUS	2 labs	a17b829b1e
4:68619737 GNRHR T>C	4	68619737	68619737	T	C	GNRHR	c.317A>G	NM_000406.3	NP_000397.1:p.(Gln106Arg)	NC_000004.11:g.68619737T>C	(Likely) pathogenic	4 labs	a17dedf4f5
2:179412372 TTN G>C	2	179412372	179412372	G	C	TTN	c.93981C>G	NM_001267550.2	NP_001254479.2:p.(Val31327=)	NC_000002.11:g.179412372G>C	(Likely) benign	5 labs	a18091bab7
5:156887133 NIPAL4 A>G	5	156887133	156887133	A	G	NIPAL4	c.-10A>G	NM_001099287.1	NP_001092757.1:p.?	NC_000005.9:g.156887133A>G	(Likely) benign	2 labs	a1830ccfa5
2:179408763 TTN C>T	2	179408763	179408763	C	T	TTN	c.96108G>A	NM_001267550.2	NP_001254479.2:p.(Val32036=)	NC_000002.11:g.179408763C>T	(Likely) benign	3 labs	a1846bef96
8:68396082 CPA6 C>T	8	68396082	68396082	C	T	CPA6	c.759G>A	NM_020361.5	NP_065094.3:p.(Trp253Ter)	NC_000008.10:g.68396082C>T	VUS	2 labs	a1854ec596
19:10265312 DNMT1 T>C	19	10265312	10265312	T	C	DNMT1	c.1782A>G	NM_001130823.3	NP_001124295.1:p.(Thr594=)	NC_000019.9:g.10265312T>C	(Likely) benign	4 labs	a186077794
2:47600989 EPCAM C>G	2	47600989	47600989	C	G	EPCAM	c.227C>G	NM_002354.3	NP_002345.2:p.(Ser76Ter)	NC_000002.11:g.47600989C>G	(Likely) pathogenic	3 labs	a18c10b3b1
8:141461074 TRAPPC9 A>G	8	141461074	141461074	A	G	TRAPPC9	c.399T>C	NM_031466.8	NP_113654.5:p.(Ala133=)	NC_000008.10:g.141461074A>G	(Likely) benign	2 labs	a19358a4b1
16:57009022 CETP G>A	16	57009022	57009022	G	A	CETP	c.940G>A	NM_000078.3	NP_000069.2:p.(Glu314Lys)	NC_000016.9:g.57009022G>A	(Likely) benign	2 labs	a198bc8faa
7:103389954 RELN A>G	7	103389954	103389954	A	G	RELN	c.578-3T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103389954A>G	(Likely) benign	3 labs	a19be9b080
2:27592423 EIF2B4 C>T	2	27592423	27592423	C	T	EIF2B4	c.76-7G>A	NM_001034116.2	NP_001029288.1:p.?	NC_000002.11:g.27592423C>T	(Likely) benign	2 labs	a1a57a163b
10:76788659 KAT6B GGAAGAGGAA>G	10	76788659	76788687	GGAAGAGGAA	G	KAT6B	c.4097_4105del	NM_012330.4	NP_036462.2:p.(Glu1366_Glu1368del)	NC_000010.10:g.76788679_76788687del	(Likely) benign	2 labs	a1aacd025a
3:47043622 NBEAL2 G>A	3	47043622	47043622	G	A	NBEAL2	c.4995G>A	NM_015175.3	NP_055990.1:p.(Val1665=)	NC_000003.11:g.47043622G>A	(Likely) benign	2 labs	a1b420adad
18:19378159 MIB1 G>T	18	19378159	19378159	G	T	MIB1	c.1207G>T	NM_020774.4	NP_065825.1:p.(Ala403Ser)	NC_000018.9:g.19378159G>T	VUS	3 labs	a1d58d9e32
1:154245874 HAX1 A>AAGAAGG	1	154245874	154245880	A	AAGAAGG	HAX1	c.117_122dup	NM_006118.4	NP_006109.2:p.(Glu40_Gly41dup)	NC_000001.10:g.154245875_154245880dup	VUS	2 labs	a1e380b0b7
2:179606538 TTN G>A	2	179606538	179606538	G	A	TTN	c.11422C>T	NM_001267550.2	NP_001254479.2:p.(Pro3808Ser)	NC_000002.11:g.179606538G>A	(Likely) benign	2 labs	a1f1f8275a
20:42815190 JPH2 G>A	20	42815190	42815190	G	A	JPH2	c.156C>T	NM_020433.5	NP_065166.2:p.(Tyr52=)	NC_000020.10:g.42815190G>A	(Likely) benign	4 labs	a1f71ab361
16:2158684 PKD1 G>A	16	2158684	2158684	G	A	PKD1	c.6484C>T	NM_001009944.3	NP_001009944.3:p.(Arg2162Trp)	NC_000016.9:g.2158684G>A	(Likely) benign	2 labs	a209125365
1:8419868 RERE G>GCTCCTT	1	8419868	8419890	G	GCTCCTT	RERE	c.3568_3573dup	NM_012102.4	NP_036234.3:p.(Lys1190_Glu1191dup)	NC_000001.10:g.8419885_8419890dup	(Likely) benign	2 labs	a2110c1d82
15:91493412 UNC45A C>T	15	91493412	91493412	C	T	UNC45A	c.2102C>T	NM_018671.5	NP_061141.2:p.(Thr701Met)	NC_000015.9:g.91493412C>T	VUS	2 labs	a214cfc9b5
3:10074529 FANCD2 A>C	3	10074529	10074529	A	C	FANCD2	c.78A>C	NM_033084.6	NP_149075.2:p.(Gln26His)	NC_000003.11:g.10074529A>C	(Likely) benign	4 labs	a22058ad6f
9:111653574 ELP1 C>G	9	111653574	111653574	C	G	ELP1	c.3069G>C	NM_003640.5	NP_003631.2:p.(Leu1023=)	NC_000009.11:g.111653574C>G	(Likely) benign	2 labs	a221a6e14b
6:32818212 TAP1 C>T	6	32818212	32818212	C	T	TAP1	c.1133G>A	NM_000593.6	NP_000584.3:p.(Arg378Gln)	NC_000006.11:g.32818212C>T	VUS	2 labs	a245ff75fd
5:89990155 ADGRV1 C>T	5	89990155	89990155	C	T	ADGRV1	c.7582C>T	NM_032119.4	NP_115495.3:p.(Pro2528Ser)	NC_000005.9:g.89990155C>T	(Likely) benign	4 labs	a223fe18ee
10:69948892 MYPN G>C	10	69948892	69948892	G	C	MYPN	c.2043+9G>C	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69948892G>C	(Likely) benign	4 labs	a225079cf5
17:33433404 RAD51D C>T	17	33433404	33433404	C	T	RAD51D	c.636+1G>A	NM_001142571.2	NP_001136043.1:p.?	NC_000017.10:g.33433404C>T	(Likely) pathogenic	2 labs	a23bbe6713
11:6647554 DCHS1 C>T	11	6647554	6647554	C	T	DCHS1	c.6422G>A	NM_003737.4	NP_003728.1:p.(Arg2141Gln)	NC_000011.9:g.6647554C>T	VUS	2 labs	a24ded6521
2:179415911 TTN A>G	2	179415911	179415911	A	G	TTN	c.91347T>C	NM_001267550.2	NP_001254479.2:p.(Asp30449=)	NC_000002.11:g.179415911A>G	(Likely) benign	5 labs	a2520075b8
12:12284777 LRP6 T>A	12	12284777	12284777	T	A	LRP6	c.3948A>T	NM_002336.3	NP_002327.2:p.(Lys1316Asn)	NC_000012.11:g.12284777T>A	(Likely) benign	2 labs	a25c830fe5
2:220285630 DES C>T	2	220285630	220285630	C	T	DES	c.978C>T	NM_001927.4	NP_001918.3:p.(His326=)	NC_000002.11:g.220285630C>T	(Likely) benign	2 labs	a26d302408
14:23893255 MYH7 T>A	14	23893255	23893255	T	A	MYH7	c.2783A>T	NM_000257.4	NP_000248.2:p.(Asp928Val)	NC_000014.8:g.23893255T>A	(Likely) pathogenic	4 labs	a270b804c6
2:179554031 TTN G>A	2	179554031	179554031	G	A	TTN	c.31997C>T	NM_001267550.2	NP_001254479.2:p.(Pro10666Leu)	NC_000002.11:g.179554031G>A	VUS	3 labs	a280b9fde2
7:5568167 ACTB G>A	7	5568167	5568167	G	A	ACTB	c.547C>T	NM_001101.5	NP_001092.1:p.(Arg183Trp)	NC_000007.13:g.5568167G>A	(Likely) pathogenic	2 labs	a289d4c92f
21:45950970 TSPEAR G>A	21	45950970	45950970	G	A	TSPEAR	c.589C>T	NM_144991.3	NP_659428.2:p.(Arg197Ter)	NC_000021.8:g.45950970G>A	(Likely) pathogenic	3 labs	a28e1e1950
17:76130947 TMC8 G>A	17	76130947	76130947	G	A	TMC8	c.988-4G>A	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76130947G>A	(Likely) benign	2 labs	a290de3fe8
18:29104564 DSG2 C>A	18	29104564	29104564	C	A	DSG2	c.828+16C>A	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29104564C>A	(Likely) benign	5 labs	a298680411
19:40901496 PRX T>C	19	40901496	40901496	T	C	PRX	c.2763A>G	NM_181882.3	NP_870998.2:p.(Ile921Met)	NC_000019.9:g.40901496T>C	(Likely) benign	3 labs	a29896e48e
17:79891147 PYCR1 T>C	17	79891147	79891147	T	C	PYCR1	c.903A>G	NM_006907.4	NP_008838.2:p.(Ser301=)	NC_000017.10:g.79891147T>C	(Likely) benign	2 labs	a299151506
4:114277041 ANK2 G>T	4	114277041	114277041	G	T	ANK2	c.7267G>T	NM_001148.6	NP_001139.3:p.(Ala2423Ser)	NC_000004.11:g.114277041G>T	VUS	2 labs	a29b073ccf
2:74327798 TET3 G>A	2	74327798	74327798	G	A	TET3	c.3883G>A	NM_001287491.2	NP_001274420.1:p.(Val1295Ile)	NC_000002.11:g.74327798G>A	VUS	2 labs	a29bcad7bd
3:38648283 SCN5A G>A	3	38648283	38648283	G	A	SCN5A	c.1017C>T	NM_001099404.2	NP_001092874.1:p.(Tyr339=)	NC_000003.11:g.38648283G>A	(Likely) benign	5 labs	a2b0383f17
1:227076653 PSEN2 C>G	1	227076653	227076653	C	G	PSEN2	c.690C>G	NM_000447.3	NP_000438.2:p.(Ala230=)	NC_000001.10:g.227076653C>G	(Likely) benign	2 labs	a2b51f2c48
12:124229429 ATP6V0A2 T>C	12	124229429	124229429	T	C	ATP6V0A2	c.1515T>C	NM_012463.4	NP_036595.2:p.(Asn505=)	NC_000012.11:g.124229429T>C	(Likely) benign	2 labs	a2d211d1f0
2:228762987 DAW1 C>T	2	228762987	228762987	C	T	DAW1	c.530C>T	NM_178821.3	NP_849143.1:p.(Thr177Ile)	NC_000002.11:g.228762987C>T	(Likely) benign	2 labs	a2d2cd7253
14:23895169 MYH7 C>T	14	23895169	23895169	C	T	MYH7	c.2162+4G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23895169C>T	(Likely) benign	5 labs	a2d702aa18
21:43805637 TMPRSS3 C>T	21	43805637	43805637	C	T	TMPRSS3	c.453G>A	NM_024022.4	NP_076927.1:p.(Val151=)	NC_000021.8:g.43805637C>T	(Likely) benign	2 labs	a2e5cf871a
18:32409427 DTNA C>T	18	32409427	32409427	C	T	DTNA	c.195C>T	NM_001198942.1	NP_001185871.1:p.(Tyr65=)	NC_000018.9:g.32409427C>T	(Likely) benign	2 labs	a2e5da4d1e
6:157405930 ARID1B G>A	6	157405930	157405930	G	A	ARID1B	c.2421G>A	NM_001371656.1	NP_001358585.1:p.(Ala807=)	NC_000006.11:g.157405930G>A	(Likely) benign	2 labs	a2e6d25692
1:55517940 PCSK9 G>A	1	55517940	55517940	G	A	PCSK9	c.524-11G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55517940G>A	(Likely) benign	2 labs	a2e743e0dd
18:29126558 DSG2 C>T	18	29126558	29126558	C	T	DSG2	c.3209C>T	NM_001943.5	NP_001934.2:p.(Thr1070Met)	NC_000018.9:g.29126558C>T	(Likely) benign	5 labs	a2fb2c4615
22:38509628 PLA2G6 C>T	22	38509628	38509628	C	T	PLA2G6	c.2068G>A	NM_003560.4	NP_003551.2:p.(Val690Ile)	NC_000022.10:g.38509628C>T	VUS	4 labs	a2fdd5447b
5:37185109 CPLANE1 C>T	5	37185109	37185109	C	T	CPLANE1	c.4262G>A	NM_023073.4	NP_075561.3:p.(Arg1421His)	NC_000005.9:g.37185109C>T	VUS	2 labs	a304f7c65a
1:20972048 PINK1 G>A	1	20972048	20972048	G	A	PINK1	c.960-5G>A	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20972048G>A	(Likely) benign	3 labs	a30e2b2d29
17:7127718 ACADVL T>C	17	7127718	7127718	T	C	ACADVL	c.1377+6T>C	NM_001270448.2	NP_001257377.1:p.?	NC_000017.10:g.7127718T>C	(Likely) benign	2 labs	a312811c3e
12:49427667 KMT2D C>CTGCTGCTGCTGCTGTTGT	12	49427667	49427695	C	CTGCTGCTGCTGCTGTTGT	KMT2D	c.10803_10820dup	NM_003482.4	NP_003473.3:p.(Gln3607_Gln3612dup)	NC_000012.11:g.49427678_49427695dup	VUS	2 labs	a312af4d8e
10:12159668 DHTKD1 G>A	10	12159668	12159668	G	A	DHTKD1	c.2320-4G>A	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12159668G>A	(Likely) benign	3 labs	a3158178e8
2:44101538 ABCG8 C>T	2	44101538	44101538	C	T	ABCG8	c.1412-8C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101538C>T	(Likely) benign	3 labs	a31619f7ea
2:47698204 MSH2 A>G	2	47698204	47698204	A	G	MSH2	c.1759+3A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47698204A>G	(Likely) pathogenic	2 labs	a327aef087
X:32407762 DMD A>G	X	32407762	32407762	A	G	DMD	c.4374T>C	NM_004006.3	NP_003997.2:p.(Phe1458=)	NC_000023.10:g.32407762A>G	(Likely) benign	2 labs	a33593b653
1:17323505 ATP13A2 C>T	1	17323505	17323505	C	T	ATP13A2	c.1195+10G>A	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17323505C>T	(Likely) benign	3 labs	a336c51b6c
1:216420436 USH2A TC>T	1	216420436	216420437	TC	T	USH2A	c.2299del	NM_206933.3	NP_996816.2:p.(Glu767SerfsTer21)	NC_000001.10:g.216420437del	(Likely) pathogenic	4 labs	a34b9a71a2
11:117222592 CEP164 G>A	11	117222592	117222592	G	A	CEP164	c.281G>A	NM_014956.5	NP_055771.4:p.(Ser94Asn)	NC_000011.9:g.117222592G>A	(Likely) benign	2 labs	a3614a804e
20:56139403 PCK1 T>C	20	56139403	56139403	T	C	PCK1	c.1140T>C	NM_002591.4	NP_002582.3:p.(Gly380=)	NC_000020.10:g.56139403T>C	(Likely) benign	2 labs	a36a4f26ae
3:148903153 CP G>A	3	148903153	148903153	G	A	CP	c.2158C>T	NM_000096.4	NP_000087.2:p.(Arg720Trp)	NC_000003.11:g.148903153G>A	VUS	5 labs	a37499181e
7:75614953 POR T>C	7	75614953	75614953	T	C	POR	c.1455T>C	NM_001382658.1	NP_001369587.1:p.(Ala485=)	NC_000007.13:g.75614953T>C	(Likely) benign	2 labs	a37874e44c
17:48151849 ITGA3 G>A	17	48151849	48151849	G	A	ITGA3	c.1420G>A	NM_002204.4	NP_002195.1:p.(Val474Met)	NC_000017.10:g.48151849G>A	(Likely) benign	2 labs	a37973b464
14:76427271 TGFB3 T>G	14	76427271	76427271	T	G	TGFB3	c.1075A>C	NM_003239.5	NP_003230.1:p.(Ser359Arg)	NC_000014.8:g.76427271T>G	VUS	2 labs	a37abb8d0a
2:179594051 TTN C>T	2	179594051	179594051	C	T	TTN	c.18832G>A	NM_001267550.2	NP_001254479.2:p.(Gly6278Ser)	NC_000002.11:g.179594051C>T	VUS	2 labs	a37ad19861
18:29104689 DSG2 T>C	18	29104689	29104689	T	C	DSG2	c.852T>C	NM_001943.5	NP_001934.2:p.(Asn284=)	NC_000018.9:g.29104689T>C	(Likely) benign	6 labs	a37b01bdb9
10:72360399 PRF1 C>T	10	72360399	72360399	C	T	PRF1	c.260G>A	NM_001083116.3	NP_001076585.1:p.(Arg87His)	NC_000010.10:g.72360399C>T	VUS	2 labs	a37d4c1ea9
2:179554305 TTN C>T	2	179554305	179554305	C	T	TTN	c.31864G>A	NM_001267550.2	NP_001254479.2:p.(Gly10622Arg)	NC_000002.11:g.179554305C>T	(Likely) benign	4 labs	a37f6033cb
2:170050410 LRP2 G>A	2	170050410	170050410	G	A	LRP2	c.8699-8C>T	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170050410G>A	(Likely) benign	4 labs	a385765ecf
2:170027191 LRP2 G>C	2	170027191	170027191	G	C	LRP2	c.11264-14C>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170027191G>C	(Likely) benign	2 labs	a38ef31289
2:179436446 TTN C>T	2	179436446	179436446	C	T	TTN	c.74413G>A	NM_001267550.2	NP_001254479.2:p.(Val24805Ile)	NC_000002.11:g.179436446C>T	VUS	2 labs	a39e67f9a2
2:179444382 TTN A>C	2	179444382	179444382	A	C	TTN	c.67542T>G	NM_001267550.2	NP_001254479.2:p.(Thr22514=)	NC_000002.11:g.179444382A>C	(Likely) benign	5 labs	a3b41c12ba
2:85894308 SFTPB G>T	2	85894308	85894308	G	T	SFTPB	c.196-8C>A	NM_000542.5	NP_000533.4:p.?	NC_000002.11:g.85894308G>T	(Likely) benign	2 labs	a3b70fcc90
6:7579985 DSP T>C	6	7579985	7579985	T	C	DSP	c.3562T>C	NM_004415.4	NP_004406.2:p.(Tyr1188His)	NC_000006.11:g.7579985T>C	VUS	5 labs	a3bec7579d
2:21231524 APOB G>A	2	21231524	21231524	G	A	APOB	c.8216C>T	NM_000384.3	NP_000375.3:p.(Pro2739Leu)	NC_000002.11:g.21231524G>A	(Likely) benign	2 labs	a3c3ef5476
14:77745193 POMT2 A>C	14	77745193	77745193	A	C	POMT2	c.1911T>G	NM_013382.7	NP_037514.2:p.(Leu637=)	NC_000014.8:g.77745193A>C	(Likely) benign	3 labs	a3cbc787a3
19:6702157 C3 C>G	19	6702157	6702157	C	G	C3	c.2421G>C	NM_000064.4	NP_000055.2:p.(Val807=)	NC_000019.9:g.6702157C>G	(Likely) benign	2 labs	a3dc47c598
14:23889090 MYH7 G>A	14	23889090	23889090	G	A	MYH7	c.3690C>T	NM_000257.4	NP_000248.2:p.(Asp1230=)	NC_000014.8:g.23889090G>A	(Likely) benign	3 labs	a3e2c8d7d7
13:32914437 BRCA2 GT>G	13	32914437	32914438	GT	G	BRCA2	c.5946del	NM_000059.4	NP_000050.3:p.(Ser1982ArgfsTer22)	NC_000013.10:g.32914438del	(Likely) pathogenic	6 labs	a3e53d7273
21:34924455 SON C>T	21	34924455	34924455	C	T	SON	c.2918C>T	NM_032195.3	NP_115571.3:p.(Ala973Val)	NC_000021.8:g.34924455C>T	(Likely) benign	2 labs	a3e63d15ea
17:40696233 NAGLU C>A	17	40696233	40696233	C	A	NAGLU	c.2209C>A	NM_000263.4	NP_000254.2:p.(Arg737Ser)	NC_000017.10:g.40696233C>A	(Likely) benign	4 labs	a3edc64d4e
2:176957710 HOXD13 T>TGGCGGC	2	176957710	176957726	T	TGGCGGC	HOXD13	c.103_108dup	NM_000523.4	NP_000514.2:p.(Ala35_Ala36dup)	NC_000002.11:g.176957721_176957726dup	VUS	2 labs	a3f9fdf634
5:228292 SDHA T>C	5	228292	228292	T	C	SDHA	c.622-8T>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228292T>C	(Likely) benign	2 labs	a407f41e01
7:117199524 CFTR C>T	7	117199524	117199524	C	T	CFTR	c.1399C>T	NM_000492.4	NP_000483.3:p.(Leu467Phe)	NC_000007.13:g.117199524C>T	VUS	2 labs	a412eb81b2
17:41201210 BRCA1 A>G	17	41201210	41201210	A	G	BRCA1	c.5334T>C	NM_007294.4	NP_009225.1:p.(Asp1778=)	NC_000017.10:g.41201210A>G	(Likely) benign	4 labs	a425b6e45f
16:9934670 GRIN2A CA>C	16	9934670	9934690	CA	C	GRIN2A	c.1498-14del	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9934690del	(Likely) benign	2 labs	a42aab7683
1:17588689 PADI3 T>A	1	17588689	17588689	T	A	PADI3	c.335T>A	NM_016233.2	NP_057317.2:p.(Leu112His)	NC_000001.10:g.17588689T>A	(Likely) pathogenic	5 labs	a43ca2527c
3:58118639 FLNB G>A	3	58118639	58118639	G	A	FLNB	c.4495G>A	NM_001457.4	NP_001448.2:p.(Asp1499Asn)	NC_000003.11:g.58118639G>A	VUS	2 labs	a43f28b0fc
5:94872799 SKIC3 G>A	5	94872799	94872799	G	A	SKIC3	c.590C>T	NM_014639.4	NP_055454.1:p.(Pro197Leu)	NC_000005.9:g.94872799G>A	VUS	2 labs	a66c9a0973
6:33408564 SYNGAP1 C>T	6	33408564	33408564	C	T	SYNGAP1	c.1735C>T	NM_006772.3	NP_006763.2:p.(Arg579Ter)	NC_000006.11:g.33408564C>T	(Likely) pathogenic	3 labs	a4438ccdad
11:72019619 CLPB C>T	11	72019619	72019619	C	T	CLPB	c.1108G>A	NM_030813.6	NP_110440.1:p.(Asp370Asn)	NC_000011.9:g.72019619C>T	VUS	2 labs	a44475c3d4
1:237586561 RYR2 A>G	1	237586561	237586561	A	G	RYR2	c.1005+13A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237586561A>G	(Likely) benign	3 labs	a444afdddd
7:6026929 PMS2 C>T	7	6026929	6026929	C	T	PMS2	c.1467G>A	NM_000535.7	NP_000526.2:p.(Glu489=)	NC_000007.13:g.6026929C>T	(Likely) benign	3 labs	a44601669a
5:13809221 DNAH5 T>A	5	13809221	13809221	T	A	DNAH5	c.7684A>T	NM_001369.3	NP_001360.1:p.(Ile2562Phe)	NC_000005.9:g.13809221T>A	VUS	2 labs	a458ebcb98
17:45369789 ITGB3 G>A	17	45369789	45369789	G	A	ITGB3	c.1545G>A	NM_000212.3	NP_000203.2:p.(Arg515=)	NC_000017.10:g.45369789G>A	(Likely) benign	2 labs	a4593f9ac5
13:110861734 COL4A1 T>TGTG	13	110861734	110861735	T	TGTG	COL4A1	c.651+4_651+5insCAC	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110861734_110861735insGTG	(Likely) benign	2 labs	a468d0713c
11:19209699 CSRP3 C>A	11	19209699	19209699	C	A	CSRP3	c.265G>T	NM_003476.5	NP_003467.1:p.(Gly89Cys)	NC_000011.9:g.19209699C>A	VUS	2 labs	a46e2e708a
8:17930772 ASAH1 C>T	8	17930772	17930772	C	T	ASAH1	c.187G>A	NM_001127505.3	NP_001120977.1:p.(Val63Ile)	NC_000008.10:g.17930772C>T	(Likely) benign	2 labs	a4712b18c4
4:100534290 MTTP AT>A	4	100534290	100534292	AT	A	MTTP	c.2212del	NM_000253.4	NP_000244.2:p.(Ser738LeufsTer10)	NC_000004.11:g.100534292del	(Likely) pathogenic	2 labs	a475dc30ba
20:18511456 SEC23B A>G	20	18511456	18511456	A	G	SEC23B	c.1233+9A>G	NM_032985.6	NP_116780.1:p.?	NC_000020.10:g.18511456A>G	(Likely) benign	2 labs	a48235a2fe
11:71146795 DHCR7 G>A	11	71146795	71146795	G	A	DHCR7	c.1054C>T	NM_001360.3	NP_001351.2:p.(Arg352Trp)	NC_000011.9:g.71146795G>A	(Likely) pathogenic	2 labs	a48aa81788
1:78383903 NEXN A>G	1	78383903	78383903	A	G	NEXN	c.392A>G	NM_144573.4	NP_653174.3:p.(Gln131Arg)	NC_000001.10:g.78383903A>G	VUS	2 labs	a48af9fb91
1:92944314 GFI1 CAGAG>C	1	92944314	92944351	CAGAG	C	GFI1	c.925-8_925-5del	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944348_92944351del	(Likely) benign	4 labs	a48b5f7d13
6:7578763 DSP AGT>A	6	7578763	7578766	AGT	A	DSP	c.3054_3055del	NM_004415.4	NP_004406.2:p.(Ser1018ArgfsTer35)	NC_000006.11:g.7578765_7578766del	(Likely) pathogenic	2 labs	a48ef7ebf4
1:22965438 C1QA A>G	1	22965438	22965438	A	G	C1QA	c.276A>G	NM_015991.4	NP_057075.1:p.(Gly92=)	NC_000001.10:g.22965438A>G	(Likely) benign	2 labs	a49549a7f3
2:179407763 TTN CT>C	2	179407763	179407778	CT	C	TTN	c.96904+32del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407778del	(Likely) benign	2 labs	a4a35db292
11:17484971 ABCC8 G>A	11	17484971	17484971	G	A	ABCC8	c.579+14C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17484971G>A	(Likely) benign	3 labs	a4a5d11d6a
15:44858107 SPG11 T>G	15	44858107	44858107	T	G	SPG11	c.6944A>C	NM_025137.4	NP_079413.3:p.(Asn2315Thr)	NC_000015.9:g.44858107T>G	VUS	2 labs	a4d6ec56a3
21:46313442 ITGB2 G>T	21	46313442	46313442	G	T	ITGB2	c.1101C>A	NM_000211.5	NP_000202.3:p.(Val367=)	NC_000021.8:g.46313442G>T	(Likely) benign	2 labs	a4accb7ed5
7:148515008 EZH2 CTTT>C	7	148515008	148515011	CTTT	C	EZH2	c.1198_1200del	NM_004456.5	NP_004447.2:p.(Lys400del)	NC_000007.13:g.148515009_148515011del	VUS	2 labs	a4b8aaf9d8
17:39925841 JUP C>T	17	39925841	39925841	C	T	JUP	c.297G>A	NM_002230.4	NP_002221.1:p.(Ser99=)	NC_000017.10:g.39925841C>T	(Likely) benign	5 labs	a4bb96ee6d
2:179615808 TTN T>C	2	179615808	179615808	T	C	TTN	c.11319A>G	NM_133379.5	NP_596870.2:p.(Pro3773=)	NC_000002.11:g.179615808T>C	(Likely) benign	2 labs	a4d5355664
15:73614944 HCN4 G>A	15	73614944	73614944	G	A	HCN4	c.3490C>T	NM_005477.3	NP_005468.1:p.(Pro1164Ser)	NC_000015.9:g.73614944G>A	VUS	4 labs	a4dbf9662f
12:110240838 TRPV4 T>G	12	110240838	110240838	T	G	TRPV4	c.670A>C	NM_021625.5	NP_067638.3:p.(Arg224=)	NC_000012.11:g.110240838T>G	(Likely) benign	4 labs	a4dc375583
7:6043443 PMS2 A>C	7	6043443	6043443	A	C	PMS2	c.251-20T>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043443A>C	(Likely) benign	2 labs	a4ea7ebd8e
6:56505081 DST G>C	6	56505081	56505081	G	C	DST	c.2251C>G	NM_001144769.5	NP_001138241.1:p.(Pro751Ala)	NC_000006.11:g.56505081G>C	(Likely) benign	4 labs	a4f276f11b
19:55441995 NLRP7 A>G	19	55441995	55441995	A	G	NLRP7	c.2682T>C	NM_001127255.1	NP_001120727.1:p.(Tyr894=)	NC_000019.9:g.55441995A>G	(Likely) benign	2 labs	a4f8f21ca5
9:140777306 CACNA1B C>G	9	140777306	140777306	C	G	CACNA1B	c.501C>G	NM_000718.4	NP_000709.1:p.(Asn167Lys)	NC_000009.11:g.140777306C>G	(Likely) benign	3 labs	a506019fa6
10:127456139 MMP21 G>A	10	127456139	127456139	G	A	MMP21	c.1372C>T	NM_147191.1	NP_671724.1:p.(Arg458Ter)	NC_000010.10:g.127456139G>A	(Likely) pathogenic	3 labs	a506dbacf7
13:31789169 B3GLCT CT>C	13	31789169	31789183	CT	C	B3GLCT	c.71-5del	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31789183del	(Likely) benign	2 labs	a517ac88c6
15:89876827 POLG T>TTGC	15	89876827	89876860	T	TTGC	POLG	c.156_158dup	NM_002693.3	NP_002684.1:p.(Gln55dup)	NC_000015.9:g.89876858_89876860dup	(Likely) benign	4 labs	a51f64f4ad
9:139411714 NOTCH1 T>C	9	139411714	139411714	T	C	NOTCH1	c.1555+10A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139411714T>C	(Likely) benign	3 labs	a522b60948
2:179418415 TTN T>A	2	179418415	179418415	T	A	TTN	c.89317A>T	NM_001267550.2	NP_001254479.2:p.(Ile29773Leu)	NC_000002.11:g.179418415T>A	(Likely) benign	6 labs	a52df6caf0
1:237923079 RYR2 A>G	1	237923079	237923079	A	G	RYR2	c.11329A>G	NM_001035.3	NP_001026.2:p.(Met3777Val)	NC_000001.10:g.237923079A>G	VUS	2 labs	a53cac6125
15:80452172 FAH G>C	15	80452172	80452172	G	C	FAH	c.267G>C	NM_000137.4	NP_000128.1:p.(Leu89=)	NC_000015.9:g.80452172G>C	(Likely) benign	2 labs	a53dd43687
1:243493907 SDCCAG8 A>T	1	243493907	243493907	A	T	SDCCAG8	c.1134A>T	NM_006642.5	NP_006633.1:p.(Glu378Asp)	NC_000001.10:g.243493907A>T	(Likely) benign	2 labs	a540f19b90
12:51386066 SLC11A2 A>G	12	51386066	51386066	A	G	SLC11A2	c.1254T>C	NM_001174129.1	NP_001167600.1:p.(Ile418=)	NC_000012.11:g.51386066A>G	(Likely) benign	2 labs	a54c766492
2:21229446 APOB G>C	2	21229446	21229446	G	C	APOB	c.10294C>G	NM_000384.3	NP_000375.3:p.(Gln3432Glu)	NC_000002.11:g.21229446G>C	(Likely) benign	2 labs	a55171667a
19:50906742 POLD1 A>G	19	50906742	50906742	A	G	POLD1	c.1138-8A>G	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50906742A>G	(Likely) benign	4 labs	a557cf07c4
5:10262740 CCT5 C>A	5	10262740	10262740	C	A	CCT5	c.1317+10C>A	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10262740C>A	(Likely) benign	2 labs	a55950fb6e
3:24270425 THRB A>T	3	24270425	24270425	A	T	THRB	c.22+4T>A	NM_001252634.2	NP_001239563.1:p.?	NC_000003.11:g.24270425A>T	(Likely) benign	2 labs	a55e78e65f
1:5935051 NPHP4 G>A	1	5935051	5935051	G	A	NPHP4	c.2927C>T	NM_015102.5	NP_055917.1:p.(Thr976Ile)	NC_000001.10:g.5935051G>A	VUS	2 labs	a579f7f722
2:169842809 ABCB11 T>C	2	169842809	169842809	T	C	ABCB11	c.909-15A>G	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169842809T>C	(Likely) benign	2 labs	c8201febe6
18:29111109 DSG2 G>A	18	29111109	29111109	G	A	DSG2	c.1174G>A	NM_001943.5	NP_001934.2:p.(Val392Ile)	NC_000018.9:g.29111109G>A	(Likely) benign	5 labs	a57dab784b
9:140087024 TPRN TTCC>T	9	140087024	140087052	TTCC	T	TPRN	c.1842_1844del	NM_001128228.3	NP_001121700.2:p.(Glu621del)	NC_000009.11:g.140087050_140087052del	(Likely) benign	2 labs	a57ffd833c
9:138662309 KCNT1 A>G	9	138662309	138662309	A	G	KCNT1	c.1769+16A>G	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138662309A>G	(Likely) benign	2 labs	a581033bb7
13:32936787 BRCA2 AG>A	13	32936787	32936788	AG	A	BRCA2	c.7934del	NM_000059.4	NP_000050.3:p.(Arg2645AsnfsTer3)	NC_000013.10:g.32936788del	(Likely) pathogenic	5 labs	a582930150
2:220285666 DES G>C	2	220285666	220285666	G	C	DES	c.1014G>C	NM_001927.4	NP_001918.3:p.(Leu338=)	NC_000002.11:g.220285666G>C	(Likely) benign	5 labs	a593081354
X:100667592 HNRNPH2 C>T	X	100667592	100667592	C	T	HNRNPH2	c.616C>T	NM_019597.5	NP_062543.1:p.(Arg206Trp)	NC_000023.10:g.100667592C>T	(Likely) pathogenic	3 labs	a59ac1d816
11:2906392 CDKN1C C>A	11	2906392	2906392	C	A	CDKN1C	c.328G>T	NM_000076.2	NP_000067.1:p.(Ala110Ser)	NC_000011.9:g.2906392C>A	VUS	2 labs	a59e5c1371
3:52387127 DNAH1 G>GCTCT	3	52387127	52387132	G	GCTCT	DNAH1	c.3038_3041dup	NM_015512.5	NP_056327.4:p.(Arg1015LeufsTer19)	NC_000003.11:g.52387129_52387132dup	(Likely) pathogenic	2 labs	a5a45254c7
3:113376110 USF3 TTGCTGCTGC>T	3	113376110	113376147	TTGCTGCTGC	T	USF3	c.4410_4418del	NM_001009899.4	NP_001009899.3:p.(Gln1476_Gln1478del)	NC_000003.11:g.113376139_113376147del	(Likely) benign	4 labs	a5afcee777
2:179426507 TTN G>A	2	179426507	179426507	G	A	TTN	c.84352C>T	NM_001267550.2	NP_001254479.2:p.(Arg28118Cys)	NC_000002.11:g.179426507G>A	(Likely) benign	5 labs	a5c0fba573
19:11218108 LDLR C>A	19	11218108	11218108	C	A	LDLR	c.858C>A	NM_000527.5	NP_000518.1:p.(Ser286Arg)	NC_000019.9:g.11218108C>A	(Likely) pathogenic	2 labs	a5d047839e
7:117251797 CFTR T>A	7	117251797	117251797	T	A	CFTR	c.3302T>A	NM_000492.4	NP_000483.3:p.(Met1101Lys)	NC_000007.13:g.117251797T>A	(Likely) pathogenic	2 labs	a5e250e1b3
7:150644942 KCNH2 G>A	7	150644942	150644942	G	A	KCNH2	c.2717C>T	NM_000238.4	NP_000229.1:p.(Ser906Leu)	NC_000007.13:g.150644942G>A	VUS	3 labs	a5e5ca3ae9
11:108139268 ATM C>T	11	108139268	108139268	C	T	ATM	c.2770C>T	NM_001351834.2	NP_001338763.1:p.(Arg924Trp)	NC_000011.9:g.108139268C>T	VUS	4 labs	a5ebd86757
6:42935272 PEX6 G>A	6	42935272	42935272	G	A	PEX6	c.1718C>T	NM_000287.4	NP_000278.3:p.(Thr573Ile)	NC_000006.11:g.42935272G>A	VUS	2 labs	a5f4ab2d54
1:3102751 PRDM16 G>A	1	3102751	3102751	G	A	PRDM16	c.100G>A	NM_022114.4	NP_071397.3:p.(Ala34Thr)	NC_000001.10:g.3102751G>A	(Likely) benign	5 labs	a5fc4767b1
4:106359121 PPA2 C>T	4	106359121	106359121	C	T	PPA2	c.514G>A	NM_176869.3	NP_789845.1:p.(Glu172Lys)	NC_000004.11:g.106359121C>T	(Likely) pathogenic	5 labs	a605e12157
2:179403445 TTN A>G	2	179403445	179403445	A	G	TTN	c.99111T>C	NM_001267550.2	NP_001254479.2:p.(Tyr33037=)	NC_000002.11:g.179403445A>G	(Likely) benign	3 labs	a60bebff0a
7:128478036 FLNC A>G	7	128478036	128478036	A	G	FLNC	c.970-5A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478036A>G	(Likely) benign	2 labs	a61bf87c09
1:55330966 DHCR24 T>C	1	55330966	55330966	T	C	DHCR24	c.1020+10A>G	NM_014762.4	NP_055577.1:p.?	NC_000001.10:g.55330966T>C	(Likely) benign	2 labs	a6239460f4
3:38645524 SCN5A A>T	3	38645524	38645524	A	T	SCN5A	c.1569T>A	NM_001099404.2	NP_001092874.1:p.(Arg523=)	NC_000003.11:g.38645524A>T	(Likely) benign	4 labs	a628e7e83b
17:59853927 BRIP1 G>A	17	59853927	59853927	G	A	BRIP1	c.1936-4C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853927G>A	(Likely) benign	2 labs	a62c18d817
12:116446294 MED13L C>G	12	116446294	116446294	C	G	MED13L	c.1924G>C	NM_015335.5	NP_056150.1:p.(Asp642His)	NC_000012.11:g.116446294C>G	(Likely) benign	2 labs	a62f98d2f6
6:7570763 DSP CAT>C	6	7570763	7570766	CAT	C	DSP	c.1670_1671del	NM_004415.4	NP_004406.2:p.(Ile557ArgfsTer27)	NC_000006.11:g.7570765_7570766del	(Likely) pathogenic	2 labs	a6314c6057
19:54395098 PRKCG G>T	19	54395098	54395098	G	T	PRKCG	c.686+14G>T	NM_002739.5	NP_002730.1:p.?	NC_000019.9:g.54395098G>T	(Likely) benign	2 labs	a640689397
12:80752660 OTOGL A>G	12	80752660	80752660	A	G	OTOGL	c.6247A>G	NM_173591.7	NP_775862.4:p.(Ile2083Val)	NC_000012.11:g.80752660A>G	(Likely) benign	2 labs	a6534b511c
20:744662 SLC52A3 A>ACAGGTCAAT	20	744662	744666	A	ACAGGTCAAT	SLC52A3	c.568-16_568-15insATTGACCTG	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.744665_744666insGTCAATCAG	(Likely) benign	4 labs	a660330fce
11:67254459 AIP C>T	11	67254459	67254459	C	T	AIP	c.100-18C>T	NM_003977.4	NP_003968.3:p.?	NC_000011.9:g.67254459C>T	(Likely) benign	4 labs	a673fbeba9
9:37429814 GRHPR A>G	9	37429814	37429814	A	G	GRHPR	c.579A>G	NM_012203.2	NP_036335.1:p.(Ala193=)	NC_000009.11:g.37429814A>G	(Likely) benign	2 labs	a684bdf257
1:3319521 PRDM16 C>T	1	3319521	3319521	C	T	PRDM16	c.843C>T	NM_022114.4	NP_071397.3:p.(His281=)	NC_000001.10:g.3319521C>T	(Likely) benign	4 labs	a69012b2bf
19:12774208 MAN2B1 G>C	19	12774208	12774208	G	C	MAN2B1	c.832C>G	NM_000528.4	NP_000519.2:p.(Leu278Val)	NC_000019.9:g.12774208G>C	(Likely) benign	2 labs	c9cd1c28de
5:122506607 PRDM6 A>T	5	122506607	122506607	A	T	PRDM6	c.1301A>T	NM_001136239.4	NP_001129711.1:p.(Asp434Val)	NC_000005.9:g.122506607A>T	(Likely) benign	2 labs	a69be3c1dc
1:55529187 PCSK9 G>A	1	55529187	55529187	G	A	PCSK9	c.2009G>A	NM_174936.4	NP_777596.2:p.(Gly670Glu)	NC_000001.10:g.55529187G>A	(Likely) benign	2 labs	a6aa2d274c
8:134125682 TG G>A	8	134125682	134125682	G	A	TG	c.7589G>A	NM_003235.5	NP_003226.4:p.(Arg2530Gln)	NC_000008.10:g.134125682G>A	(Likely) benign	2 labs	a6b0b8625b
7:91726504 AKAP9 A>G	7	91726504	91726504	A	G	AKAP9	c.10231A>G	NM_005751.5	NP_005742.4:p.(Lys3411Glu)	NC_000007.13:g.91726504A>G	VUS	2 labs	a6b84c1f37
12:56578623 SMARCC2 T>C	12	56578623	56578623	T	C	SMARCC2	c.492+5A>G	NM_003075.5	NP_003066.2:p.?	NC_000012.11:g.56578623T>C	(Likely) benign	2 labs	a6bc2b3872
1:227172935 COQ8A C>G	1	227172935	227172935	C	G	COQ8A	c.1573-20C>G	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227172935C>G	(Likely) benign	4 labs	a6c5c09338
11:46727308 ZNF408 T>G	11	46727308	46727308	T	G	ZNF408	c.2058T>G	NM_024741.3	NP_079017.1:p.(Phe686Leu)	NC_000011.9:g.46727308T>G	VUS	3 labs	a6cb01a040
9:6645472 GLDC GC>G	9	6645472	6645477	GC	G	GLDC	c.27del	NM_000170.3	NP_000161.2:p.(Leu10CysfsTer81)	NC_000009.11:g.6645477del	(Likely) pathogenic	2 labs	a6cb1e03a0
1:154842199 KCNN3 G>GGCTGCTGCTGCTGCT	1	154842199	154842242	G	GGCTGCTGCTGCTGCT	KCNN3	c.227_241dup	NM_002249.6	NP_002240.3:p.(Gln76_Gln80dup)	NC_000001.10:g.154842228_154842242dup	(Likely) benign	3 labs	a6cd62c632
2:179597212 TTN T>G	2	179597212	179597212	T	G	TTN	c.16576A>C	NM_001267550.2	NP_001254479.2:p.(Asn5526His)	NC_000002.11:g.179597212T>G	VUS	5 labs	a6cfa93aec
6:161139502 PLG G>A	6	161139502	161139502	G	A	PLG	c.950+14G>A	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161139502G>A	(Likely) benign	2 labs	a6d0248352
2:179569147 TTN T>C	2	179569147	179569147	T	C	TTN	c.29963-13A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179569147T>C	(Likely) benign	5 labs	a6d0507b38
12:52200316 SCN8A C>T	12	52200316	52200316	C	T	SCN8A	c.5046C>T	NM_014191.4	NP_055006.1:p.(Ile1682=)	NC_000012.11:g.52200316C>T	(Likely) benign	2 labs	a6de61ae97
2:179447110 TTN C>T	2	179447110	179447110	C	T	TTN	c.66073G>A	NM_001267550.2	NP_001254479.2:p.(Glu22025Lys)	NC_000002.11:g.179447110C>T	VUS	2 labs	a6e0f05eb6
2:179640299 TTN G>A	2	179640299	179640299	G	A	TTN	c.6292C>T	NM_001267550.2	NP_001254479.2:p.(Arg2098Trp)	NC_000002.11:g.179640299G>A	VUS	3 labs	a6e35eec68
9:136433778 ADAMTSL2 G>A	9	136433778	136433778	G	A	ADAMTSL2	c.2142G>A	NM_001145320.2	NP_001138792.1:p.(Ser714=)	NC_000009.11:g.136433778G>A	(Likely) benign	2 labs	a6f498b5d8
16:56536711 BBS2 G>A	16	56536711	56536711	G	A	BBS2	c.814C>T	NM_031885.5	NP_114091.4:p.(Arg272Ter)	NC_000016.9:g.56536711G>A	(Likely) pathogenic	2 labs	a6fb9ea2ee
X:128957640 ZDHHC9 T>C	X	128957640	128957640	T	C	ZDHHC9	c.487+15A>G	NM_001008222.3	NP_001008223.1:p.?	NC_000023.10:g.128957640T>C	(Likely) benign	2 labs	a6fce4bcab
1:55505668 PCSK9 C>T	1	55505668	55505668	C	T	PCSK9	c.158C>T	NM_174936.4	NP_777596.2:p.(Ala53Val)	NC_000001.10:g.55505668C>T	(Likely) benign	3 labs	a6ff11b26e
14:23886429 MYH7 G>A	14	23886429	23886429	G	A	MYH7	c.4452C>T	NM_000257.4	NP_000248.2:p.(Leu1484=)	NC_000014.8:g.23886429G>A	(Likely) benign	6 labs	a700469063
13:32921035 BRCA2 T>C	13	32921035	32921035	T	C	BRCA2	c.7007+2T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32921035T>C	(Likely) pathogenic	4 labs	a7067e908b
17:48673996 CACNA1G A>C	17	48673996	48673996	A	C	CACNA1G	c.3053A>C	NM_018896.5	NP_061496.2:p.(Lys1018Thr)	NC_000017.10:g.48673996A>C	VUS	2 labs	a71baf66ed
1:1460657 ATAD3A C>T	1	1460657	1460657	C	T	ATAD3A	c.1252C>T	NM_001170535.3	NP_001164006.1:p.(Arg418Trp)	NC_000001.10:g.1460657C>T	VUS	2 labs	a721896344
1:228461679 OBSCN G>C	1	228461679	228461679	G	C	OBSCN	c.5346G>C	NM_052843.4	NP_443075.3:p.(Gln1782His)	NC_000001.10:g.228461679G>C	VUS	2 labs	a724e1cab1
17:10553691 MYH3 G>A	17	10553691	10553691	G	A	MYH3	c.533C>T	NM_002470.4	NP_002461.2:p.(Thr178Ile)	NC_000017.10:g.10553691G>A	(Likely) pathogenic	2 labs	a7399297f8
10:69954289 MYPN C>T	10	69954289	69954289	C	T	MYPN	c.2193+20C>T	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69954289C>T	(Likely) benign	3 labs	a77b4a4144
2:179395929 TTN A>G	2	179395929	179395929	A	G	TTN	c.97709T>C	NM_133378.4	NP_596869.4:p.(Met32570Thr)	NC_000002.11:g.179395929A>G	VUS	2 labs	a77d25998b
18:25593718 CDH2 C>G	18	25593718	25593718	C	G	CDH2	c.328G>C	NM_001792.5	NP_001783.2:p.(Glu110Gln)	NC_000018.9:g.25593718C>G	VUS	2 labs	a7845fcb06
10:89692922 PTEN T>C	10	89692922	89692922	T	C	PTEN	c.406T>C	NM_000314.8	NP_000305.3:p.(Cys136Arg)	NC_000010.10:g.89692922T>C	(Likely) pathogenic	3 labs	a7879c5cf8
2:179613672 TTN A>G	2	179613672	179613672	A	G	TTN	c.13455T>C	NM_133379.5	NP_596870.2:p.(Pro4485=)	NC_000002.11:g.179613672A>G	(Likely) benign	4 labs	a7893a0129
16:16291971 ABCC6 C>T	16	16291971	16291971	C	T	ABCC6	c.1245G>A	NM_001171.6	NP_001162.5:p.(Val415=)	NC_000016.9:g.16291971C>T	(Likely) benign	2 labs	a7a0bce73f
X:70597631 TAF1 C>G	X	70597631	70597631	C	G	TAF1	c.893C>G	NM_001286074.2	NP_001273003.2:p.(Ala298Gly)	NC_000023.10:g.70597631C>G	(Likely) benign	2 labs	a7a9768f94
9:137630587 COL5A1 T>C	9	137630587	137630587	T	C	COL5A1	c.1432-5T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630587T>C	(Likely) benign	2 labs	a7aceb550c
3:46944274 PTH1R T>C	3	46944274	46944274	T	C	PTH1R	c.1389T>C	NM_000316.3	NP_000307.1:p.(Asn463=)	NC_000003.11:g.46944274T>C	(Likely) benign	2 labs	a7b862e564
2:179487431 TTN C>T	2	179487431	179487431	C	T	TTN	c.39956G>A	NM_001256850.1	NP_001243779.1:p.(Arg13319Gln)	NC_000002.11:g.179487431C>T	VUS	2 labs	a7ba9cc36c
4:114177010 ANK2 C>T	4	114177010	114177010	C	T	ANK2	c.1110C>T	NM_001148.6	NP_001139.3:p.(His370=)	NC_000004.11:g.114177010C>T	(Likely) benign	4 labs	a7eacc8a77
17:41203079 BRCA1 C>T	17	41203079	41203079	C	T	BRCA1	c.5332+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41203079C>T	(Likely) pathogenic	2 labs	a7f24fc2b4
6:86199329 NT5E G>C	6	86199329	86199329	G	C	NT5E	c.1210+12G>C	NM_002526.4	NP_002517.1:p.?	NC_000006.11:g.86199329G>C	(Likely) benign	2 labs	a7f91d7831
5:176830627 F12 G>A	5	176830627	176830627	G	A	F12	c.1251-9C>T	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176830627G>A	(Likely) benign	2 labs	a7fd9e0245
2:1499927 TPO A>C	2	1499927	1499927	A	C	TPO	c.2173A>C	NM_000547.6	NP_000538.3:p.(Thr725Pro)	NC_000002.11:g.1499927A>C	(Likely) benign	3 labs	a7fdb5c4f7
X:135730555 CD40LG T>C	X	135730555	135730555	T	C	CD40LG	c.148T>C	NM_000074.3	NP_000065.1:p.(Leu50=)	NC_000023.10:g.135730555T>C	(Likely) benign	2 labs	a800280217
20:43251514 ADA G>A	20	43251514	43251514	G	A	ADA	c.736C>T	NM_000022.4	NP_000013.2:p.(Gln246Ter)	NC_000020.10:g.43251514G>A	(Likely) pathogenic	2 labs	a800cb0832
14:23866155 MYH6 G>T	14	23866155	23866155	G	T	MYH6	c.2168+17C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23866155G>T	(Likely) benign	5 labs	a801e81566
8:145741765 RECQL4 G>A	8	145741765	145741765	G	A	RECQL4	c.738C>T	NM_004260.4	NP_004251.4:p.(Ser246=)	NC_000008.10:g.145741765G>A	(Likely) benign	2 labs	a812f72e54
11:108164137 ATM T>C	11	108164137	108164137	T	C	ATM	c.4709T>C	NM_000051.4	NP_000042.3:p.(Val1570Ala)	NC_000011.9:g.108164137T>C	(Likely) benign	7 labs	a81c5eca05
6:73830249 KCNQ5 T>C	6	73830249	73830249	T	C	KCNQ5	c.1169T>C	NM_001160133.2	NP_001153605.1:p.(Ile390Thr)	NC_000006.11:g.73830249T>C	(Likely) benign	2 labs	cbb9dc7bc5
14:23868229 MYH6 G>A	14	23868229	23868229	G	A	MYH6	c.1599C>T	NM_002471.4	NP_002462.2:p.(Ser533=)	NC_000014.8:g.23868229G>A	(Likely) benign	4 labs	a829a0c101
10:68940116 CTNNA3 G>T	10	68940116	68940116	G	T	CTNNA3	c.1006C>A	NM_013266.4	NP_037398.2:p.(Arg336Ser)	NC_000010.10:g.68940116G>T	VUS	2 labs	a8313bdabe
16:88713572 CYBA A>C	16	88713572	88713572	A	C	CYBA	c.140T>G	NM_000101.4	NP_000092.2:p.(Val47Gly)	NC_000016.9:g.88713572A>C	VUS	2 labs	a831caafa0
2:179396573 TTN T>G	2	179396573	179396573	T	G	TTN	c.104769A>C	NM_001267550.2	NP_001254479.2:p.(Thr34923=)	NC_000002.11:g.179396573T>G	(Likely) benign	5 labs	a833c5147f
9:35060302 VCP T>C	9	35060302	35060302	T	C	VCP	c.1695+8A>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35060302T>C	(Likely) benign	5 labs	a83a9b73b4
9:98212185 PTCH1 C>T	9	98212185	98212185	C	T	PTCH1	c.3487G>A	NM_000264.5	NP_000255.2:p.(Gly1163Ser)	NC_000009.11:g.98212185C>T	(Likely) benign	2 labs	a8423220c9
1:237863718 RYR2 T>G	1	237863718	237863718	T	G	RYR2	c.9318T>G	NM_001035.3	NP_001026.2:p.(Ser3106=)	NC_000001.10:g.237863718T>G	(Likely) benign	2 labs	a842d8c7b7
2:170013904 LRP2 A>C	2	170013904	170013904	A	C	LRP2	c.11996T>G	NM_004525.3	NP_004516.2:p.(Val3999Gly)	NC_000002.11:g.170013904A>C	(Likely) benign	3 labs	a859d47347
3:81754630 GBE1 G>A	3	81754630	81754630	G	A	GBE1	c.278C>T	NM_000158.4	NP_000149.4:p.(Pro93Leu)	NC_000003.11:g.81754630G>A	VUS	2 labs	a85f15f47b
6:7576619 DSP G>A	6	7576619	7576619	G	A	DSP	c.2723G>A	NM_004415.4	NP_004406.2:p.(Arg908His)	NC_000006.11:g.7576619G>A	(Likely) benign	5 labs	a86cd81340
6:129486817 LAMA2 C>T	6	129486817	129486817	C	T	LAMA2	c.1303C>T	NM_000426.4	NP_000417.3:p.(Arg435Ter)	NC_000006.11:g.129486817C>T	(Likely) pathogenic	2 labs	a86dee09ed
9:135797337 TSC1 C>T	9	135797337	135797337	C	T	TSC1	c.532G>A	NM_000368.5	NP_000359.1:p.(Val178Ile)	NC_000009.11:g.135797337C>T	(Likely) benign	2 labs	a86fcc8b5b
2:220283222 DES C>T	2	220283222	220283222	C	T	DES	c.38C>T	NM_001927.4	NP_001918.3:p.(Ser13Phe)	NC_000002.11:g.220283222C>T	(Likely) pathogenic	3 labs	a871871a89
5:149497177 PDGFRB T>C	5	149497177	149497177	T	C	PDGFRB	c.3137+4A>G	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149497177T>C	(Likely) benign	4 labs	a87bc11e77
15:89866657 POLG C>G	15	89866657	89866657	C	G	POLG	c.2243G>C	NM_002693.2	NP_002684.1:p.(Trp748Ser)	NC_000015.9:g.89866657C>G	(Likely) pathogenic	5 labs	a884965b7c
9:140772464 CACNA1B G>T	9	140772464	140772464	G	T	CACNA1B	c.79G>T	NM_000718.4	NP_000709.1:p.(Gly27Cys)	NC_000009.11:g.140772464G>T	VUS	2 labs	a88cc0e052
15:89862284 POLG C>G	15	89862284	89862284	C	G	POLG	c.3151G>C	NM_002693.2	NP_002684.1:p.(Gly1051Arg)	NC_000015.9:g.89862284C>G	(Likely) pathogenic	2 labs	a8981f3e26
1:45297808 PTCH2 G>T	1	45297808	45297808	G	T	PTCH2	c.455+16C>A	NM_001166292.2	NP_001159764.1:p.?	NC_000001.10:g.45297808G>T	(Likely) benign	2 labs	a8a232be80
2:179580437 TTN C>T	2	179580437	179580437	C	T	TTN	c.25704G>A	NM_001267550.2	NP_001254479.2:p.(Arg8568=)	NC_000002.11:g.179580437C>T	(Likely) benign	6 labs	a8a25f116f
5:176056529 SNCB A>G	5	176056529	176056529	A	G	SNCB	c.121+6T>C	NM_001001502.3	NP_001001502.1:p.?	NC_000005.9:g.176056529A>G	(Likely) benign	3 labs	a8ab7a359c
1:3102766 PRDM16 G>A	1	3102766	3102766	G	A	PRDM16	c.115G>A	NM_022114.4	NP_071397.3:p.(Glu39Lys)	NC_000001.10:g.3102766G>A	VUS	3 labs	a8b22094e3
17:41215905 BRCA1 A>G	17	41215905	41215905	A	G	BRCA1	c.5138T>C	NM_007294.4	NP_009225.1:p.(Val1713Ala)	NC_000017.10:g.41215905A>G	(Likely) pathogenic	2 labs	a8c57270df
12:121432117 HNF1A G>C	12	121432117	121432117	G	C	HNF1A	c.864G>C	NM_000545.8	NP_000536.6:p.(Gly288=)	NC_000012.11:g.121432117G>C	(Likely) benign	3 labs	a8c853833e
10:69926112 MYPN A>C	10	69926112	69926112	A	C	MYPN	c.780A>C	NM_001256268.2	NP_001243197.1:p.(Ala260=)	NC_000010.10:g.69926112A>C	(Likely) benign	4 labs	a8d0248179
1:155205634 GBA1 T>C	1	155205634	155205634	T	C	GBA1	c.1226A>G	NM_001005741.3	NP_001005741.1:p.(Asn409Ser)	NC_000001.10:g.155205634T>C	(Likely) pathogenic	4 labs	a8d02eb1ef
3:52486117 TNNC1 C>G	3	52486117	52486117	C	G	TNNC1	c.202+5G>C	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52486117C>G	VUS	2 labs	a8d15717f3
1:152278434 FLG T>G	1	152278434	152278434	T	G	FLG	c.8928A>C	NM_002016.2	NP_002007.1:p.(Glu2976Asp)	NC_000001.10:g.152278434T>G	(Likely) benign	2 labs	a8d9e47b13
1:236908053 ACTN2 C>T	1	236908053	236908053	C	T	ACTN2	c.1383C>T	NM_001103.4	NP_001094.1:p.(Ile461=)	NC_000001.10:g.236908053C>T	(Likely) benign	5 labs	a8e0088cca
9:2039776 SMARCA2 ACAGCAGCAG>A	9	2039776	2039817	ACAGCAGCAG	A	SMARCA2	c.699_707del	NM_003070.5	NP_003061.3:p.(Gln236_Gln238del)	NC_000009.11:g.2039809_2039817del	(Likely) benign	3 labs	a8e49621fe
11:62394062 GANAB A>G	11	62394062	62394062	A	G	GANAB	c.2558T>C	NM_198335.4	NP_938149.2:p.(Phe853Ser)	NC_000011.9:g.62394062A>G	VUS	2 labs	a8ee2257d0
6:6320808 F13A1 T>G	6	6320808	6320808	T	G	F13A1	c.-19+12A>C	NM_000129.4	NP_000120.2:p.?	NC_000006.11:g.6320808T>G	(Likely) benign	2 labs	a8f00e38da
2:216283958 FN1 T>A	2	216283958	216283958	T	A	FN1	c.1819+7A>T	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216283958T>A	(Likely) benign	2 labs	a8f91305cf
19:11240191 LDLR CTCCTCGTCT>C	19	11240191	11240204	CTCCTCGTCT	C	LDLR	c.2397_2405del	NM_000527.5	NP_000518.1:p.(Val800_Leu802del)	NC_000019.9:g.11240196_11240204del	(Likely) pathogenic	3 labs	a8f9b55535
15:85360505 ALPK3 G>GGGCCA	15	85360505	85360517	G	GGGCCA	ALPK3				NC_000015.9:g.85360513_85360517dup	(Likely) benign	3 labs	a90aec2a21
7:151874147 KMT2C C>CT	7	151874147	151874156	C	CT	KMT2C	c.8390dup	NM_170606.3	NP_733751.2:p.(Glu2798GlyfsTer11)	NC_000007.13:g.151874156dup	(Likely) pathogenic	2 labs	a90d9e7201
19:13366031 CACNA1A G>A	19	13366031	13366031	G	A	CACNA1A	c.4633C>T	NM_001127222.2	NP_001120694.1:p.(Arg1545Ter)	NC_000019.9:g.13366031G>A	(Likely) pathogenic	2 labs	a9126fa227
X:110987953 ALG13 TACCACC>T	X	110987953	110987998	TACCACC	T	ALG13	c.2793_2798del	NM_001099922.3	NP_001093392.1:p.(Pro944_Pro945del)	NC_000023.10:g.110987993_110987998del	(Likely) benign	3 labs	a91312b9ce
9:87325623 NTRK2 C>A	9	87325623	87325623	C	A	NTRK2	c.500C>A	NM_006180.6	NP_006171.2:p.(Ser167Tyr)	NC_000009.11:g.87325623C>A	(Likely) benign	3 labs	a9134aac29
12:40713873 LRRK2 A>G	12	40713873	40713873	A	G	LRRK2	c.4911A>G	NM_198578.4	NP_940980.4:p.(Lys1637=)	NC_000012.11:g.40713873A>G	(Likely) benign	3 labs	a9193ac888
17:33430296 RAD51D G>A	17	33430296	33430296	G	A	RAD51D	c.715C>T	NM_002878.4	NP_002869.3:p.(Arg239Trp)	NC_000017.10:g.33430296G>A	VUS	4 labs	a9198e041d
5:112173704 APC C>T	5	112173704	112173704	C	T	APC	c.2413C>T	NM_000038.6	NP_000029.2:p.(Arg805Ter)	NC_000005.9:g.112173704C>T	(Likely) pathogenic	2 labs	a92807b9b2
X:136659329 ZIC3 C>T	X	136659329	136659329	C	T	ZIC3	c.1273C>T	NM_001330661.1	NP_001317590.1:p.(Leu425Phe)	NC_000023.10:g.136659329C>T	VUS	2 labs	a92c8f36f7
13:110853874 COL4A1 A>C	13	110853874	110853874	A	C	COL4A1	c.1000-5T>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110853874A>C	(Likely) benign	2 labs	a93541fe82
6:112461010 LAMA4 C>A	6	112461010	112461010	C	A	LAMA4	c.3054G>T	NM_001105206.3	NP_001098676.2:p.(Leu1018Phe)	NC_000006.11:g.112461010C>A	(Likely) benign	3 labs	a938f1db17
11:108203619 ATM C>T	11	108203619	108203619	C	T	ATM	c.7919C>T	NM_000051.4	NP_000042.3:p.(Thr2640Ile)	NC_000011.9:g.108203619C>T	(Likely) benign	6 labs	a93bd0bac0
22:51064039 ARSA G>C	22	51064039	51064039	G	C	ARSA	c.1178C>G	NM_000487.6	NP_000478.3:p.(Thr393Ser)	NC_000022.10:g.51064039G>C	(Likely) benign	4 labs	a95d4b11e4
2:179466272 TTN T>C	2	179466272	179466272	T	C	TTN	c.55452A>G	NM_001267550.2	NP_001254479.2:p.(Lys18484=)	NC_000002.11:g.179466272T>C	(Likely) benign	5 labs	a95f45776d
2:170053496 LRP2 G>A	2	170053496	170053496	G	A	LRP2	c.8623C>T	NM_004525.3	NP_004516.2:p.(Arg2875Cys)	NC_000002.11:g.170053496G>A	VUS	2 labs	a96d001e26
12:6091000 VWF A>G	12	6091000	6091000	A	G	VWF	c.7239T>C	NM_000552.5	NP_000543.3:p.(Thr2413=)	NC_000012.11:g.6091000A>G	(Likely) benign	2 labs	a96e437ac1
12:22015989 ABCC9 C>T	12	22015989	22015989	C	T	ABCC9	c.2238-1G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22015989C>T	(Likely) benign	3 labs	a97b2f6e40
13:32937506 BRCA2 G>C	13	32937506	32937506	G	C	BRCA2	c.8167G>C	NM_000059.4	NP_000050.3:p.(Asp2723His)	NC_000013.10:g.32937506G>C	(Likely) pathogenic	5 labs	a9944a5fee
9:135172412 SETX A>G	9	135172412	135172412	A	G	SETX	c.5811T>C	NM_015046.7	NP_055861.3:p.(Asp1937=)	NC_000009.11:g.135172412A>G	(Likely) benign	5 labs	a99ca9b784
3:114069131 ZBTB20 G>C	3	114069131	114069131	G	C	ZBTB20	c.1794C>G	NM_001164342.2	NP_001157814.1:p.(Phe598Leu)	NC_000003.11:g.114069131G>C	(Likely) pathogenic	2 labs	a9a2a99a11
10:69908244 MYPN A>G	10	69908244	69908244	A	G	MYPN	c.363+20A>G	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69908244A>G	(Likely) benign	4 labs	a9b172e783
11:47354171 MYBPC3 C>T	11	47354171	47354171	C	T	MYBPC3	c.3573G>A	NM_000256.3	NP_000247.2:p.(Ser1191=)	NC_000011.9:g.47354171C>T	(Likely) benign	5 labs	a9bc2ed372
6:7580346 DSP G>A	6	7580346	7580346	G	A	DSP	c.3923G>A	NM_004415.4	NP_004406.2:p.(Arg1308Gln)	NC_000006.11:g.7580346G>A	(Likely) benign	5 labs	a9c4c7a1fb
6:7581597 DSP G>A	6	7581597	7581597	G	A	DSP	c.5174G>A	NM_004415.4	NP_004406.2:p.(Arg1725Gln)	NC_000006.11:g.7581597G>A	VUS	2 labs	a9c8450d4b
6:80982870 BCKDHB C>T	6	80982870	80982870	C	T	BCKDHB	c.970C>T	NM_183050.4	NP_898871.1:p.(Arg324Ter)	NC_000006.11:g.80982870C>T	(Likely) pathogenic	2 labs	a9d91074e0
16:89598892 SPG7 G>A	16	89598892	89598892	G	A	SPG7	c.1172G>A	NM_003119.4	NP_003110.1:p.(Arg391Gln)	NC_000016.9:g.89598892G>A	VUS	2 labs	aa03d5a0ff
2:179407663 TTN G>A	2	179407663	179407663	G	A	TTN	c.96918C>T	NM_001267550.2	NP_001254479.2:p.(Ile32306=)	NC_000002.11:g.179407663G>A	(Likely) benign	5 labs	aa0560b7d7
6:152772264 SYNE1 A>G	6	152772264	152772264	A	G	SYNE1	c.3104T>C	NM_182961.4	NP_892006.3:p.(Val1035Ala)	NC_000006.11:g.152772264A>G	(Likely) benign	4 labs	aa05c74fc9
6:129670493 LAMA2 C>T	6	129670493	129670493	C	T	LAMA2	c.4487C>T	NM_000426.4	NP_000417.3:p.(Ala1496Val)	NC_000006.11:g.129670493C>T	(Likely) benign	6 labs	aa0c9ab2c8
13:32912299 BRCA2 T>C	13	32912299	32912299	T	C	BRCA2	c.3807T>C	NM_000059.4	NP_000050.3:p.(Val1269=)	NC_000013.10:g.32912299T>C	(Likely) benign	6 labs	aa11f30879
2:47657041 MSH2 C>T	2	47657041	47657041	C	T	MSH2	c.1237C>T	NM_000251.3	NP_000242.1:p.(Gln413Ter)	NC_000002.11:g.47657041C>T	(Likely) pathogenic	2 labs	aa18b7109d
2:47656948 MSH2 C>T	2	47656948	47656948	C	T	MSH2	c.1144C>T	NM_000251.3	NP_000242.1:p.(Arg382Cys)	NC_000002.11:g.47656948C>T	VUS	2 labs	aa18c947d5
1:94476388 ABCA4 C>G	1	94476388	94476388	C	G	ABCA4	c.5682G>C	NM_000350.3	NP_000341.2:p.(Leu1894=)	NC_000001.10:g.94476388C>G	(Likely) benign	4 labs	aa236200f2
2:179476144 TTN C>T	2	179476144	179476144	C	T	TTN	c.50812G>A	NM_001267550.2	NP_001254479.2:p.(Glu16938Lys)	NC_000002.11:g.179476144C>T	VUS	2 labs	aa248778f2
6:151751289 RMND1 T>C	6	151751289	151751289	T	C	RMND1	c.713A>G	NM_017909.4	NP_060379.2:p.(Asn238Ser)	NC_000006.11:g.151751289T>C	(Likely) pathogenic	3 labs	aa27f2ff42
5:149361221 SLC26A2 A>T	5	149361221	149361221	A	T	SLC26A2	c.2065A>T	NM_000112.4	NP_000103.2:p.(Thr689Ser)	NC_000005.9:g.149361221A>T	(Likely) benign	4 labs	aa54474670
10:112581138 RBM20 A>T	10	112581138	112581138	A	T	RBM20	c.2761A>T	NM_001134363.3	NP_001127835.2:p.(Ile921Phe)	NC_000010.10:g.112581138A>T	VUS	6 labs	aa5dece543
2:179594067 TTN A>G	2	179594067	179594067	A	G	TTN	c.18816T>C	NM_001267550.2	NP_001254479.2:p.(Ile6272=)	NC_000002.11:g.179594067A>G	(Likely) benign	4 labs	aa65919da7
7:117188682 CFTR G>T	7	117188682	117188682	G	T	CFTR	c.1210-13G>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117188682G>T	(Likely) benign	4 labs	aa678ce4d2
2:179467274 TTN C>T	2	179467274	179467274	C	T	TTN	c.54855G>A	NM_001267550.2	NP_001254479.2:p.(Thr18285=)	NC_000002.11:g.179467274C>T	(Likely) benign	2 labs	aa83b08f32
8:141460918 TRAPPC9 C>T	8	141460918	141460918	C	T	TRAPPC9	c.555G>A	NM_031466.8	NP_113654.5:p.(Lys185=)	NC_000008.10:g.141460918C>T	(Likely) benign	2 labs	aa8491fa76
9:27561628 C9orf72 T>C	9	27561628	27561628	T	C	C9orf72	c.620A>G	NM_001256054.3	NP_001242983.1:p.(Asn207Ser)	NC_000009.11:g.27561628T>C	(Likely) benign	2 labs	aa8d1a7477
2:179463515 TTN T>C	2	179463515	179463515	T	C	TTN	c.56922A>G	NM_001267550.2	NP_001254479.2:p.(Ala18974=)	NC_000002.11:g.179463515T>C	(Likely) benign	2 labs	aa9983c979
19:42474691 ATP1A3 C>T	19	42474691	42474691	C	T	ATP1A3	c.2306G>A	NM_001256214.2	NP_001243143.1:p.(Arg769His)	NC_000019.9:g.42474691C>T	(Likely) pathogenic	2 labs	aa9f3f0962
19:39006843 RYR1 C>T	19	39006843	39006843	C	T	RYR1	c.9671C>T	NM_000540.3	NP_000531.2:p.(Pro3224Leu)	NC_000019.9:g.39006843C>T	VUS	2 labs	aaa1690eeb
2:179580264 TTN T>C	2	179580264	179580264	T	C	TTN	c.25877A>G	NM_001267550.2	NP_001254479.2:p.(Asn8626Ser)	NC_000002.11:g.179580264T>C	VUS	3 labs	aaa3752f6a
11:47469439 RAPSN A>G	11	47469439	47469439	A	G	RAPSN	c.456T>C	NM_005055.5	NP_005046.2:p.(Tyr152=)	NC_000011.9:g.47469439A>G	(Likely) benign	2 labs	aaa566a52d
1:225334918 DNAH14 CAATT>C	1	225334918	225334924	CAATT	C	DNAH14	c.4910_4913del	NM_001367479.1	NP_001354408.1:p.(Ile1637ArgfsTer30)	NC_000001.10:g.225334921_225334924del	VUS	2 labs	aab925da93
3:33063050 GLB1 A>G	3	33063050	33063050	A	G	GLB1	c.1233+8T>C	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33063050A>G	(Likely) benign	4 labs	aabe04a55d
1:156106185 LMNA T>C	1	156106185	156106185	T	C	LMNA	c.1338T>C	NM_170707.4	NP_733821.1:p.(Asp446=)	NC_000001.10:g.156106185T>C	(Likely) benign	4 labs	aabf858cf2
7:92760714 SAMD9L C>T	7	92760714	92760714	C	T	SAMD9L	c.4571G>A	NM_152703.5	NP_689916.2:p.(Arg1524His)	NC_000007.13:g.92760714C>T	(Likely) benign	2 labs	aac49d2479
7:151273454 PRKAG2 T>C	7	151273454	151273454	T	C	PRKAG2	c.946+3A>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151273454T>C	(Likely) benign	2 labs	aad016a39a
6:29641413 ZFP57 T>A	6	29641413	29641413	T	A	ZFP57	c.475A>T	NM_001109809.5	NP_001103279.2:p.(Thr159Ser)	NC_000006.11:g.29641413T>A	(Likely) benign	2 labs	aad92767c2
4:159601676 ETFDH C>T	4	159601676	159601676	C	T	ETFDH	c.92C>T	NM_004453.4	NP_004444.2:p.(Thr31Ile)	NC_000004.11:g.159601676C>T	(Likely) benign	2 labs	aadaad96e1
12:33030980 PKP2 C>A	12	33030980	33030980	C	A	PKP2	c.834G>T	NM_004572.4	NP_004563.2:p.(Gln278His)	NC_000012.11:g.33030980C>A	VUS	3 labs	aae8c128a9
14:23894580 MYH7 G>C	14	23894580	23894580	G	C	MYH7	c.2334C>G	NM_000257.4	NP_000248.2:p.(Asp778Glu)	NC_000014.8:g.23894580G>C	(Likely) pathogenic	5 labs	aae9e6413e
2:179614148 TTN T>C	2	179614148	179614148	T	C	TTN	c.12979A>G	NM_133379.5	NP_596870.2:p.(Ile4327Val)	NC_000002.11:g.179614148T>C	(Likely) benign	3 labs	aaecc18229
1:150531050 ADAMTSL4 G>A	1	150531050	150531050	G	A	ADAMTSL4	c.2484G>A	NM_019032.6	NP_061905.2:p.(Pro828=)	NC_000001.10:g.150531050G>A	(Likely) benign	2 labs	aaefbb9579
2:179403394 TTN C>T	2	179403394	179403394	C	T	TTN	c.99162G>A	NM_001267550.2	NP_001254479.2:p.(Lys33054=)	NC_000002.11:g.179403394C>T	(Likely) benign	6 labs	aaf69554aa
X:48682654 HDAC6 A>T	X	48682654	48682654	A	T	HDAC6	c.3529A>T	NM_006044.4	NP_006035.2:p.(Ile1177Phe)	NC_000023.10:g.48682654A>T	(Likely) benign	2 labs	aafb9aa3dd
9:139407932 NOTCH1 A>G	9	139407932	139407932	A	G	NOTCH1	c.2265T>C	NM_017617.5	NP_060087.3:p.(Asn755=)	NC_000009.11:g.139407932A>G	(Likely) benign	4 labs	ab05ebb75f
17:17707105 RAI1 T>C	17	17707105	17707105	T	C	RAI1	c.5601T>C	NM_030665.4	NP_109590.3:p.(Ile1867=)	NC_000017.10:g.17707105T>C	(Likely) benign	3 labs	ab0c392faf
12:57966055 KIF5A G>A	12	57966055	57966055	G	A	KIF5A	c.1569+5G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57966055G>A	VUS	2 labs	ab0c7a85d3
X:48682140 HDAC6 G>A	X	48682140	48682140	G	A	HDAC6	c.3248G>A	NM_006044.4	NP_006035.2:p.(Gly1083Asp)	NC_000023.10:g.48682140G>A	(Likely) benign	2 labs	ab193a654e
17:18042211 MYO15A G>C	17	18042211	18042211	G	C	MYO15A	c.5094G>C	NM_016239.4	NP_057323.3:p.(Glu1698Asp)	NC_000017.10:g.18042211G>C	VUS	2 labs	ab21793eec
19:11200252 LDLR T>C	19	11200252	11200252	T	C	LDLR	c.28T>C	NM_000527.5	NP_000518.1:p.(Trp10Arg)	NC_000019.9:g.11200252T>C	(Likely) pathogenic	2 labs	ab2704fb4c
2:152530992 NEB T>G	2	152530992	152530992	T	G	NEB	c.3986A>C	NM_001271208.2	NP_001258137.2:p.(Asp1329Ala)	NC_000002.11:g.152530992T>G	VUS	2 labs	ab2dda5e98
1:145507765 RBM8A G>C	1	145507765	145507765	G	C	RBM8A	c.67+32G>C	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145507765G>C	(Likely) pathogenic	3 labs	ab2de61371
10:75830834 VCL T>G	10	75830834	75830834	T	G	VCL	c.492T>G	NM_014000.3	NP_054706.1:p.(Leu164=)	NC_000010.10:g.75830834T>G	(Likely) benign	5 labs	ab474e219b
16:16248588 ABCC6 C>T	16	16248588	16248588	C	T	ABCC6	c.4105G>A	NM_001171.6	NP_001162.5:p.(Glu1369Lys)	NC_000016.9:g.16248588C>T	VUS	4 labs	ab73fdf979
1:19201956 ALDH4A1 A>G	1	19201956	19201956	A	G	ALDH4A1	c.1380T>C	NM_003748.4	NP_003739.2:p.(Asp460=)	NC_000001.10:g.19201956A>G	(Likely) benign	2 labs	ab8495c261
12:51382232 SLC11A2 T>C	12	51382232	51382232	T	C	SLC11A2	c.1576-14A>G	NM_001174129.1	NP_001167600.1:p.?	NC_000012.11:g.51382232T>C	(Likely) benign	2 labs	ab925f30c8
5:14374353 TRIO C>T	5	14374353	14374353	C	T	TRIO	c.3232C>T	NM_007118.4	NP_009049.2:p.(Arg1078Trp)	NC_000005.9:g.14374353C>T	(Likely) pathogenic	2 labs	ab934b2e4d
3:38639408 SCN5A G>T	3	38639408	38639408	G	T	SCN5A	c.2074C>A	NM_198056.3	NP_932173.1:p.(Gln692Lys)	NC_000003.11:g.38639408G>T	(Likely) benign	4 labs	ab9a9add17
11:68678962 IGHMBP2 T>C	11	68678962	68678962	T	C	IGHMBP2	c.602T>C	NM_002180.3	NP_002171.2:p.(Leu201Ser)	NC_000011.9:g.68678962T>C	(Likely) benign	3 labs	abacfebcc0
19:1226640 STK11 G>A	19	1226640	1226640	G	A	STK11	c.1296G>A	NM_000455.5	NP_000446.1:p.(Gln432=)	NC_000019.9:g.1226640G>A	(Likely) benign	3 labs	abb3a7af7e
22:51064416 ARSA T>C	22	51064416	51064416	T	C	ARSA	c.1055A>G	NM_000487.6	NP_000478.3:p.(Asn352Ser)	NC_000022.10:g.51064416T>C	(Likely) benign	4 labs	abb824d568
1:22207244 HSPG2 C>T	1	22207244	22207244	C	T	HSPG2	c.1903G>A	NM_005529.7	NP_005520.4:p.(Val635Met)	NC_000001.10:g.22207244C>T	VUS	2 labs	abc4313619
X:107929326 COL4A5 C>T	X	107929326	107929326	C	T	COL4A5	c.4264C>T	NM_000495.5	NP_000486.1:p.(Arg1422Cys)	NC_000023.10:g.107929326C>T	VUS	2 labs	abc53b07dc
X:31676100 DMD T>A	X	31676100	31676100	T	A	DMD	c.8027+7A>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31676100T>A	(Likely) benign	3 labs	abcbb637e3
16:15811062 MYH11 C>T	16	15811062	15811062	C	T	MYH11	c.5460G>A	NM_001040113.2	NP_001035202.1:p.(Lys1820=)	NC_000016.9:g.15811062C>T	(Likely) benign	4 labs	abf29b0143
3:10188328 VHL C>T	3	10188328	10188328	C	T	VHL	c.463+8C>T	NM_000551.4	NP_000542.1:p.?	NC_000003.11:g.10188328C>T	(Likely) benign	5 labs	ac010a93d6
15:78346529 TBC1D2B C>T	15	78346529	78346529	C	T	TBC1D2B	c.361G>A	NM_144572.2	NP_653173.1:p.(Ala121Thr)	NC_000015.9:g.78346529C>T	VUS	2 labs	ac0e94d28f
10:121432155 BAG3 T>A	10	121432155	121432155	T	A	BAG3	c.896T>A	NM_004281.4	NP_004272.2:p.(Val299Asp)	NC_000010.10:g.121432155T>A	VUS	2 labs	ac14509fc4
1:156848946 NTRK1 G>T	1	156848946	156848946	G	T	NTRK1	c.1838G>T	NM_002529.4	NP_002520.2:p.(Gly613Val)	NC_000001.10:g.156848946G>T	(Likely) benign	5 labs	ac2e5904b9
16:50744991 NOD2 A>T	16	50744991	50744991	A	T	NOD2	c.1169A>T	NM_022162.3	NP_071445.1:p.(Asp390Val)	NC_000016.9:g.50744991A>T	VUS	3 labs	ac31975d4c
18:21124365 NPC1 C>T	18	21124365	21124365	C	T	NPC1	c.2073G>A	NM_000271.5	NP_000262.2:p.(Pro691=)	NC_000018.9:g.21124365C>T	(Likely) benign	4 labs	ac361a9a67
7:117229521 CFTR A>G	7	117229521	117229521	A	G	CFTR	c.1680-886A>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117229521A>G	(Likely) pathogenic	2 labs	ac3d062dd5
1:22159874 HSPG2 C>T	1	22159874	22159874	C	T	HSPG2	c.10982G>A	NM_005529.7	NP_005520.4:p.(Arg3661Gln)	NC_000001.10:g.22159874C>T	(Likely) pathogenic	2 labs	ac3d2d6dcd
18:21496533 LAMA3 C>T	18	21496533	21496533	C	T	LAMA3	c.7797C>T	NM_198129.4	NP_937762.2:p.(Asp2599=)	NC_000018.9:g.21496533C>T	(Likely) benign	2 labs	ac43dfbd58
14:74953018 NPC2 C>T	14	74953018	74953018	C	T	NPC2	c.190+14G>A	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74953018C>T	(Likely) benign	2 labs	ac519b7d24
14:68249499 ZFYVE26 C>T	14	68249499	68249499	C	T	ZFYVE26	c.4370G>A	NM_015346.4	NP_056161.2:p.(Cys1457Tyr)	NC_000014.8:g.68249499C>T	(Likely) benign	2 labs	ac5b274c20
3:14180744 TMEM43 G>C	3	14180744	14180744	G	C	TMEM43	c.947G>C	NM_024334.3	NP_077310.1:p.(Trp316Ser)	NC_000003.11:g.14180744G>C	VUS	2 labs	ac61cb15fb
11:2466480 KCNQ1 A>ACGCGCCCAT	11	2466480	2466496	A	ACGCGCCCAT	KCNQ1	c.160_168dup	NM_000218.3	NP_000209.2:p.(Ile54_Pro56dup)	NC_000011.9:g.2466488_2466496dup	(Likely) benign	6 labs	ac6273e795
11:58920252 FAM111A A>T	11	58920252	58920252	A	T	FAM111A	c.1111A>T	NM_022074.4	NP_071357.2:p.(Thr371Ser)	NC_000011.9:g.58920252A>T	VUS	2 labs	ac63fc0d3a
1:978762 AGRN G>A	1	978762	978762	G	A	AGRN	c.1528G>A	NM_198576.4	NP_940978.2:p.(Gly510Ser)	NC_000001.10:g.978762G>A	(Likely) benign	2 labs	ac6726e7a8
15:89876722 POLG G>A	15	89876722	89876722	G	A	POLG	c.264C>T	NM_002693.3	NP_002684.1:p.(Phe88=)	NC_000015.9:g.89876722G>A	(Likely) benign	3 labs	ac6906b0ae
1:98348885 DPYD G>A	1	98348885	98348885	G	A	DPYD	c.85=	NM_000110.4	NP_000101.2:p.(Cys29=)	NC_000001.10:g.98348885G>A	(Likely) benign	2 labs	ac76398746
22:20779768 SCARF2 G>C	22	20779768	20779768	G	C	SCARF2	c.2513C>G	NM_153334.7	NP_699165.3:p.(Ala838Gly)	NC_000022.10:g.20779768G>C	(Likely) benign	2 labs	ac91be5432
X:153593613 FLNA C>T	X	153593613	153593613	C	T	FLNA	c.1582G>A	NM_001456.4	NP_001447.2:p.(Val528Met)	NC_000023.10:g.153593613C>T	(Likely) benign	4 labs	ac9aa1b58b
12:2659199 CACNA1C C>T	12	2659199	2659199	C	T	CACNA1C	c.1481C>T	NM_199460.4	NP_955630.3:p.(Ala494Val)	NC_000012.11:g.2659199C>T	VUS	3 labs	acb70a7707
12:22005167 ABCC9 C>T	12	22005167	22005167	C	T	ABCC9	c.2644-11G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22005167C>T	(Likely) benign	4 labs	acc2e13b37
19:18898441 COMP G>A	19	18898441	18898441	G	A	COMP	c.994C>T	NM_000095.3	NP_000086.2:p.(Arg332Trp)	NC_000019.9:g.18898441G>A	VUS	2 labs	acc365f5a2
14:50100386 DNAAF2 T>C	14	50100386	50100386	T	C	DNAAF2	c.1482A>G	NM_018139.3	NP_060609.2:p.(Thr494=)	NC_000014.8:g.50100386T>C	(Likely) benign	2 labs	acd713b054
17:76131070 TMC8 G>A	17	76131070	76131070	G	A	TMC8	c.1107G>A	NM_152468.5	NP_689681.2:p.(Glu369=)	NC_000017.10:g.76131070G>A	(Likely) benign	2 labs	acdd3f47cf
1:55518385 PCSK9 C>T	1	55518385	55518385	C	T	PCSK9	c.720C>T	NM_174936.4	NP_777596.2:p.(Gly240=)	NC_000001.10:g.55518385C>T	(Likely) benign	3 labs	acf880c56c
18:72998886 TSHZ1 T>C	18	72998886	72998886	T	C	TSHZ1	c.1389T>C	NM_005786.6	NP_005777.3:p.(Pro463=)	NC_000018.9:g.72998886T>C	(Likely) benign	2 labs	acfa03e2c6
11:34999745 PDHX C>G	11	34999745	34999745	C	G	PDHX	c.1023+16C>G	NM_003477.3	NP_003468.2:p.?	NC_000011.9:g.34999745C>G	(Likely) benign	2 labs	ad0d097f04
10:75857038 VCL A>G	10	75857038	75857038	A	G	VCL	c.1820A>G	NM_014000.3	NP_054706.1:p.(Lys607Arg)	NC_000010.10:g.75857038A>G	VUS	2 labs	ad13d3343e
11:116701284 APOC3 A>G	11	116701284	116701284	A	G	APOC3	c.-13-2A>G	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701284A>G	VUS	2 labs	ad28d41fcb
2:200213419 SATB2 T>C	2	200213419	200213419	T	C	SATB2	c.1173+5A>G	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200213419T>C	(Likely) benign	2 labs	ad306901f5
15:63354797 TPM1 C>T	15	63354797	63354797	C	T	TPM1	c.725C>T	NM_001018004.2	NP_001018004.1:p.(Ala242Val)	NC_000015.9:g.63354797C>T	(Likely) pathogenic	2 labs	ad3895be2d
1:197070901 ASPM A>G	1	197070901	197070901	A	G	ASPM	c.7480T>C	NM_018136.5	NP_060606.3:p.(Tyr2494His)	NC_000001.10:g.197070901A>G	(Likely) benign	3 labs	ad3947f8d1
6:112435273 LAMA4 A>C	6	112435273	112435273	A	C	LAMA4	c.5326+6T>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112435273A>C	(Likely) benign	3 labs	ad3a9636a0
2:167136878 SCN9A T>C	2	167136878	167136878	T	C	SCN9A	c.2299A>G	NM_002977.3	NP_002968.1:p.(Ile767Val)	NC_000002.11:g.167136878T>C	VUS	2 labs	ad415cee12
1:237880494 RYR2 A>G	1	237880494	237880494	A	G	RYR2	c.10324-4A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237880494A>G	(Likely) benign	5 labs	ad41d8b368
5:42699970 GHR G>A	5	42699970	42699970	G	A	GHR	c.484G>A	NM_000163.5	NP_000154.1:p.(Val162Ile)	NC_000005.9:g.42699970G>A	(Likely) benign	2 labs	ad47c41e6f
3:38655518 SCN5A A>G	3	38655518	38655518	A	G	SCN5A	c.651T>C	NM_001099404.2	NP_001092874.1:p.(Ala217=)	NC_000003.11:g.38655518A>G	(Likely) benign	3 labs	ad4bc41f12
X:153591078 FLNA C>G	X	153591078	153591078	C	G	FLNA	c.2355G>C	NM_001456.4	NP_001447.2:p.(Lys785Asn)	NC_000023.10:g.153591078C>G	VUS	2 labs	ad6e303ce4
7:117243828 CFTR T>C	7	117243828	117243828	T	C	CFTR	c.2900T>C	NM_000492.4	NP_000483.3:p.(Leu967Ser)	NC_000007.13:g.117243828T>C	VUS	3 labs	ad77b8df42
1:237780625 RYR2 C>T	1	237780625	237780625	C	T	RYR2	c.5755C>T	NM_001035.3	NP_001026.2:p.(Arg1919Trp)	NC_000001.10:g.237780625C>T	VUS	2 labs	d3d710405f
2:179452435 TTN G>A	2	179452435	179452435	G	A	TTN	c.63601C>T	NM_001267550.2	NP_001254479.2:p.(Arg21201Ter)	NC_000002.11:g.179452435G>A	(Likely) pathogenic	2 labs	ad82cde69b
2:179514618 TTN G>A	2	179514618	179514618	G	A	TTN	c.39821C>T	NM_001267550.2	NP_001254479.2:p.(Pro13274Leu)	NC_000002.11:g.179514618G>A	VUS	2 labs	ad84bc2315
19:11231159 LDLR G>A	19	11231159	11231159	G	A	LDLR	c.2101G>A	NM_000527.5	NP_000518.1:p.(Gly701Ser)	NC_000019.9:g.11231159G>A	(Likely) benign	2 labs	ad876adfd6
3:47045739 NBEAL2 C>G	3	47045739	47045739	C	G	NBEAL2	c.6054C>G	NM_015175.3	NP_055990.1:p.(Pro2018=)	NC_000003.11:g.47045739C>G	(Likely) benign	2 labs	ad9e3b30da
3:4403818 SUMF1 T>C	3	4403818	4403818	T	C	SUMF1	c.*10A>G	NM_182760.4	NP_877437.2:p.?	NC_000003.11:g.4403818T>C	(Likely) benign	2 labs	adc8a7d99f
6:161139857 PLG A>G	6	161139857	161139857	A	G	PLG	c.1083A>G	NM_000301.5	NP_000292.1:p.(Gln361=)	NC_000006.11:g.161139857A>G	(Likely) benign	2 labs	addb20cbfc
20:4680251 PRNP A>G	20	4680251	4680251	A	G	PRNP	c.385A>G	NM_000311.5	NP_000302.1:p.(Met129Val)	NC_000020.10:g.4680251A>G	(Likely) benign	4 labs	addde2189b
3:184071510 CLCN2 C>T	3	184071510	184071510	C	T	CLCN2	c.1795G>A	NM_004366.6	NP_004357.3:p.(Asp599Asn)	NC_000003.11:g.184071510C>T	VUS	2 labs	addececaf4
2:220283508 DES G>A	2	220283508	220283508	G	A	DES	c.324G>A	NM_001927.4	NP_001918.3:p.(Glu108=)	NC_000002.11:g.220283508G>A	(Likely) benign	3 labs	ade8ae22b7
17:39913768 JUP G>A	17	39913768	39913768	G	A	JUP	c.1945C>T	NM_002230.4	NP_002221.1:p.(Leu649=)	NC_000017.10:g.39913768G>A	(Likely) benign	2 labs	ade994275f
X:153170980 AVPR2 T>G	X	153170980	153170980	T	G	AVPR2	c.26-6T>G	NM_001146151.3	NP_001139623.1:p.?	NC_000023.10:g.153170980T>G	(Likely) benign	3 labs	adf3265184
9:97369149 FBP1 C>T	9	97369149	97369149	C	T	FBP1	c.653G>A	NM_000507.4	NP_000498.2:p.(Arg218Lys)	NC_000009.11:g.97369149C>T	(Likely) benign	2 labs	adf55a4a7b
13:32937406 BRCA2 T>A	13	32937406	32937406	T	A	BRCA2	c.8067T>A	NM_000059.4	NP_000050.3:p.(Cys2689Ter)	NC_000013.10:g.32937406T>A	(Likely) pathogenic	6 labs	adfbc03ed7
10:126100523 OAT G>A	10	126100523	126100523	G	A	OAT	c.199+19C>T	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126100523G>A	(Likely) benign	2 labs	ae01c7d7a6
10:69881446 MYPN A>G	10	69881446	69881446	A	G	MYPN	c.251A>G	NM_032578.4	NP_115967.2:p.(Asn84Ser)	NC_000010.10:g.69881446A>G	VUS	3 labs	ae04ec75f7
6:170871054 TBP AGCAGCAGCAGCAG>A	6	170871054	170871067	AGCAGCAGCAGCAG	A	TBP	c.231_243del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer63)	NC_000006.11:g.170871055_170871067del	(Likely) benign	2 labs	ae15fe1d55
18:29178554 TTR C>T	18	29178554	29178554	C	T	TTR	c.360C>T	NM_000371.4	NP_000362.1:p.(Ser120=)	NC_000018.9:g.29178554C>T	(Likely) benign	6 labs	ae1cb62b71
5:6600200 NSUN2 C>T	5	6600200	6600200	C	T	NSUN2	c.2143G>A	NM_017755.6	NP_060225.4:p.(Val715Ile)	NC_000005.9:g.6600200C>T	(Likely) benign	2 labs	ae1eae45d4
2:121555049 GLI2 T>C	2	121555049	121555049	T	C	GLI2	c.148+5T>C	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121555049T>C	(Likely) benign	4 labs	ae2414926d
19:18186618 IL12RB1 T>C	19	18186618	18186618	T	C	IL12RB1	c.641A>G	NM_005535.3	NP_005526.1:p.(Gln214Arg)	NC_000019.9:g.18186618T>C	(Likely) benign	3 labs	ae2474efab
2:179467311 TTN G>A	2	179467311	179467311	G	A	TTN	c.54818C>T	NM_001267550.2	NP_001254479.2:p.(Pro18273Leu)	NC_000002.11:g.179467311G>A	(Likely) benign	5 labs	ae2d27507b
16:31004164 STX1B A>G	16	31004164	31004164	A	G	STX1B	c.845T>C	NM_052874.5	NP_443106.1:p.(Ile282Thr)	NC_000016.9:g.31004164A>G	VUS	3 labs	ae36b3ecf9
19:15271771 NOTCH3 G>A	19	15271771	15271771	G	A	NOTCH3	c.6668C>T	NM_000435.3	NP_000426.2:p.(Ala2223Val)	NC_000019.9:g.15271771G>A	(Likely) benign	3 labs	ae4422c217
1:160105035 ATP1A2 C>T	1	160105035	160105035	C	T	ATP1A2	c.2065C>T	NM_000702.4	NP_000693.1:p.(Arg689Ter)	NC_000001.10:g.160105035C>T	(Likely) pathogenic	2 labs	ae467621aa
18:34324091 FHOD3 G>A	18	34324091	34324091	G	A	FHOD3	c.3451G>A	NM_025135.5	NP_079411.2:p.(Val1151Ile)	NC_000018.9:g.34324091G>A	(Likely) benign	2 labs	ae50eda87d
2:179413214 TTN G>A	2	179413214	179413214	G	A	TTN	c.93139C>T	NM_001267550.2	NP_001254479.2:p.(Arg31047Ter)	NC_000002.11:g.179413214G>A	(Likely) pathogenic	2 labs	ae54a78ddc
11:71146621 DHCR7 C>T	11	71146621	71146621	C	T	DHCR7	c.1228G>A	NM_001360.3	NP_001351.2:p.(Gly410Ser)	NC_000011.9:g.71146621C>T	(Likely) pathogenic	3 labs	ae61325598
1:39851427 MACF1 G>A	1	39851427	39851427	G	A	MACF1	c.7984G>A	NM_012090.5	NP_036222.3:p.(Glu2662Lys)	NC_000001.10:g.39851427G>A	(Likely) benign	2 labs	ae6bf0271f
22:50658424 TUBGCP6 T>C	22	50658424	50658424	T	C	TUBGCP6	c.4129A>G	NM_020461.4	NP_065194.3:p.(Thr1377Ala)	NC_000022.10:g.50658424T>C	(Likely) benign	2 labs	ae7369da40
1:158592935 SPTA1 G>A	1	158592935	158592935	G	A	SPTA1	c.5958C>T	NM_003126.4	NP_003117.2:p.(Pro1986=)	NC_000001.10:g.158592935G>A	(Likely) benign	2 labs	ae8638a6c2
16:81892708 PLCG2 T>A	16	81892708	81892708	T	A	PLCG2	c.432-13T>A	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81892708T>A	(Likely) benign	3 labs	ae8aee31ac
18:10696097 PIEZO2 A>C	18	10696097	10696097	A	C	PIEZO2	c.6826T>G	NM_022068.4	NP_071351.2:p.(Phe2276Val)	NC_000018.9:g.10696097A>C	VUS	3 labs	ae9afd86da
12:7047911 ATN1 G>A	12	7047911	7047911	G	A	ATN1	c.2785G>A	NM_001007026.2	NP_001007027.1:p.(Ala929Thr)	NC_000012.11:g.7047911G>A	(Likely) benign	2 labs	aea07257b1
6:161139480 PLG C>T	6	161139480	161139480	C	T	PLG	c.942C>T	NM_000301.5	NP_000292.1:p.(Phe314=)	NC_000006.11:g.161139480C>T	(Likely) benign	2 labs	aea53a2a26
7:128494601 FLNC G>GTCGC	7	128494601	128494606	G	GTCGC	FLNC	c.6864_6867dup	NM_001458.5	NP_001449.3:p.(Val2290ArgfsTer23)	NC_000007.13:g.128494603_128494606dup	(Likely) pathogenic	4 labs	aea9e032e2
15:45387152 DUOX2 G>T	15	45387152	45387152	G	T	DUOX2	c.4377C>A	NM_014080.5	NP_054799.4:p.(Asp1459Glu)	NC_000015.9:g.45387152G>T	VUS	2 labs	aeb94ad656
1:237617794 RYR2 C>G	1	237617794	237617794	C	G	RYR2	c.1396C>G	NM_001035.3	NP_001026.2:p.(Pro466Ala)	NC_000001.10:g.237617794C>G	VUS	3 labs	aeba21e8f5
11:108236086 ATM C>T	11	108236086	108236086	C	T	ATM	c.9022C>T	NM_000051.4	NP_000042.3:p.(Arg3008Cys)	NC_000011.9:g.108236086C>T	(Likely) pathogenic	2 labs	aebbe54c87
16:3777792 CREBBP G>A	16	3777792	3777792	G	A	CREBBP	c.7256C>T	NM_004380.3	NP_004371.2:p.(Ala2419Val)	NC_000016.9:g.3777792G>A	(Likely) benign	2 labs	aec7fe913f
11:9812236 SBF2 G>A	11	9812236	9812236	G	A	SBF2	c.4571-6C>T	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9812236G>A	(Likely) benign	2 labs	aece7c025e
17:78184679 SGSH C>T	17	78184679	78184679	C	T	SGSH	c.1081G>A	NM_000199.5	NP_000190.1:p.(Val361Ile)	NC_000017.10:g.78184679C>T	(Likely) benign	5 labs	aed14da37f
17:41222967 BRCA1 G>A	17	41222967	41222967	G	A	BRCA1	c.4964C>T	NM_007294.4	NP_009225.1:p.(Ser1655Phe)	NC_000017.10:g.41222967G>A	(Likely) pathogenic	2 labs	aed1784dff
7:91715662 AKAP9 C>T	7	91715662	91715662	C	T	AKAP9	c.9145C>T	NM_005751.5	NP_005742.4:p.(Leu3049=)	NC_000007.13:g.91715662C>T	(Likely) benign	2 labs	aed281600a
1:186276585 PRG4 A>C	1	186276585	186276585	A	C	PRG4	c.1734A>C	NM_005807.6	NP_005798.3:p.(Pro578=)	NC_000001.10:g.186276585A>C	(Likely) benign	2 labs	aee0312e96
2:179593082 TTN A>G	2	179593082	179593082	A	G	TTN	c.19469T>C	NM_001267550.2	NP_001254479.2:p.(Met6490Thr)	NC_000002.11:g.179593082A>G	VUS	3 labs	aee26b8075
6:7584154 DSP C>A	6	7584154	7584154	C	A	DSP	c.6659C>A	NM_004415.4	NP_004406.2:p.(Thr2220Asn)	NC_000006.11:g.7584154C>A	VUS	2 labs	aef504c94c
12:32993998 PKP2 T>C	12	32993998	32993998	T	C	PKP2	c.1652A>G	NM_004572.4	NP_004563.2:p.(Asp551Gly)	NC_000012.11:g.32993998T>C	VUS	2 labs	af0be10071
7:151478249 PRKAG2 C>T	7	151478249	151478249	C	T	PRKAG2	c.455G>A	NM_016203.4	NP_057287.2:p.(Arg152His)	NC_000007.13:g.151478249C>T	VUS	5 labs	af10e7be6a
17:10296486 MYH8 G>A	17	10296486	10296486	G	A	MYH8	c.5208C>T	NM_002472.3	NP_002463.2:p.(Asp1736=)	NC_000017.10:g.10296486G>A	(Likely) benign	2 labs	af18c895d3
4:100496061 MTTP G>A	4	100496061	100496061	G	A	MTTP	c.-6G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100496061G>A	(Likely) benign	2 labs	af192321a8
14:23858107 MYH6 G>A	14	23858107	23858107	G	A	MYH6	c.4136C>T	NM_002471.4	NP_002462.2:p.(Thr1379Met)	NC_000014.8:g.23858107G>A	(Likely) benign	6 labs	af1c47cbc5
1:9775972 PIK3CD T>A	1	9775972	9775972	T	A	PIK3CD	c.436T>A	NM_005026.5	NP_005017.3:p.(Phe146Ile)	NC_000001.10:g.9775972T>A	(Likely) benign	2 labs	af2614a5f8
6:152527409 SYNE1 C>T	6	152527409	152527409	C	T	SYNE1	c.22913G>A	NM_182961.4	NP_892006.3:p.(Gly7638Asp)	NC_000006.11:g.152527409C>T	VUS	3 labs	af49b260f8
14:102482408 DYNC1H1 G>T	14	102482408	102482408	G	T	DYNC1H1	c.7458G>T	NM_001376.5	NP_001367.2:p.(Leu2486=)	NC_000014.8:g.102482408G>T	(Likely) benign	3 labs	af5011f774
15:44949318 SPG11 C>G	15	44949318	44949318	C	G	SPG11	c.844G>C	NM_025137.4	NP_079413.3:p.(Ala282Pro)	NC_000015.9:g.44949318C>G	VUS	2 labs	af5064eaa4
2:179611813 TTN C>T	2	179611813	179611813	C	T	TTN	c.15314G>A	NM_133379.5	NP_596870.2:p.(Arg5105Gln)	NC_000002.11:g.179611813C>T	VUS	2 labs	af6cbcc47b
7:33573546 BBS9 A>C	7	33573546	33573546	A	C	BBS9	c.2299-20A>C	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33573546A>C	(Likely) benign	4 labs	af6d466382
22:21346114 LZTR1 G>T	22	21346114	21346114	G	T	LZTR1	c.989G>T	NM_006767.4	NP_006758.2:p.(Ser330Ile)	NC_000022.10:g.21346114G>T	VUS	2 labs	af6ee7b2a1
3:38648250 SCN5A G>A	3	38648250	38648250	G	A	SCN5A	c.1050C>T	NM_001099404.2	NP_001092874.1:p.(His350=)	NC_000003.11:g.38648250G>A	(Likely) benign	2 labs	af7ac5351a
16:88494947 ZNF469 T>C	16	88494947	88494947	T	C	ZNF469	c.1069T>C	NM_001367624.2	NP_001354553.1:p.(Ser357Pro)	NC_000016.9:g.88494947T>C	(Likely) benign	3 labs	af7af45b06
10:121432147 BAG3 C>T	10	121432147	121432147	C	T	BAG3	c.888C>T	NM_004281.4	NP_004272.2:p.(His296=)	NC_000010.10:g.121432147C>T	(Likely) benign	5 labs	af931f9a6e
2:191862645 STAT1 C>T	2	191862645	191862645	C	T	STAT1	c.722G>A	NM_007315.4	NP_009330.1:p.(Arg241Gln)	NC_000002.11:g.191862645C>T	(Likely) benign	2 labs	afc2f2a696
16:8898638 PMM2 G>T	16	8898638	8898638	G	T	PMM2	c.193G>T	NM_000303.3	NP_000294.1:p.(Asp65Tyr)	NC_000016.9:g.8898638G>T	(Likely) pathogenic	2 labs	afc5ec9123
12:102154900 GNPTAB A>G	12	102154900	102154900	A	G	GNPTAB	c.3135+5T>C	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102154900A>G	(Likely) benign	2 labs	afc636c0d7
2:179426201 TTN C>G	2	179426201	179426201	C	G	TTN	c.84658G>C	NM_001267550.2	NP_001254479.2:p.(Asp28220His)	NC_000002.11:g.179426201C>G	VUS	3 labs	afd59be464
3:98307696 CPOX T>G	3	98307696	98307696	T	G	CPOX	c.814A>C	NM_000097.7	NP_000088.3:p.(Asn272His)	NC_000003.11:g.98307696T>G	(Likely) benign	3 labs	afde49d3fc
22:33253280 TIMP3 T>C	22	33253280	33253280	T	C	TIMP3	c.249T>C	NM_000362.5	NP_000353.1:p.(His83=)	NC_000022.10:g.33253280T>C	(Likely) benign	2 labs	aff00bb853
X:129147377 BCORL1 C>T	X	129147377	129147377	C	T	BCORL1	c.629C>T	NM_021946.5	NP_068765.3:p.(Ser210Leu)	NC_000023.10:g.129147377C>T	VUS	2 labs	affa1a1dc8
22:29092870 CHEK2 C>T	22	29092870	29092870	C	T	CHEK2	c.1095+19G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29092870C>T	(Likely) benign	4 labs	affc2cb8fd
6:7583973 DSP C>T	6	7583973	7583973	C	T	DSP	c.6478C>T	NM_004415.4	NP_004406.2:p.(Arg2160Ter)	NC_000006.11:g.7583973C>T	(Likely) pathogenic	2 labs	b006f7c8b8
2:216299551 FN1 C>A	2	216299551	216299551	C	A	FN1	c.149-4G>T	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216299551C>A	(Likely) benign	2 labs	b031706c28
13:32913804 BRCA2 G>A	13	32913804	32913804	G	A	BRCA2	c.5312G>A	NM_000059.4	NP_000050.3:p.(Gly1771Asp)	NC_000013.10:g.32913804G>A	(Likely) benign	7 labs	b031dba22d
11:108159711 ATM G>C	11	108159711	108159711	G	C	ATM	c.4117G>C	NM_000051.4	NP_000042.3:p.(Asp1373His)	NC_000011.9:g.108159711G>C	VUS	2 labs	b032251a1c
11:2190925 TH C>T	11	2190925	2190925	C	T	TH	c.360G>A	NM_199292.3	NP_954986.2:p.(Arg120=)	NC_000011.9:g.2190925C>T	(Likely) benign	3 labs	b03a3efa5c
2:44502788 SLC3A1 A>C	2	44502788	44502788	A	C	SLC3A1	c.114A>C	NM_000341.4	NP_000332.2:p.(Gly38=)	NC_000002.11:g.44502788A>C	(Likely) benign	2 labs	b03b965cc9
8:117868531 RAD21 TAAAAAAAAAAAAA>T	8	117868531	117868554	TAAAAAAAAAAAAA	T	RAD21	c.815-17_815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868542_117868554del	(Likely) benign	2 labs	b042261553
2:179582237 TTN G>C	2	179582237	179582237	G	C	TTN	c.25351+13C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179582237G>C	(Likely) benign	2 labs	b04885a8ae
5:90073705 ADGRV1 T>G	5	90073705	90073705	T	G	ADGRV1	c.12528-17T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90073705T>G	VUS	3 labs	b054655cf8
20:50408447 SALL4 G>T	20	50408447	50408447	G	T	SALL4	c.575C>A	NM_020436.5	NP_065169.1:p.(Ala192Glu)	NC_000020.10:g.50408447G>T	VUS	2 labs	b0583c6053
3:33155585 CRTAP C>CGG	3	33155585	33155591	C	CGG	CRTAP	c.21_22dup	NM_006371.5	NP_006362.1:p.(Ala8GlyfsTer6)	NC_000003.11:g.33155590_33155591dup	(Likely) pathogenic	2 labs	b058c55140
6:1611212 FOXC1 G>C	6	1611212	1611212	G	C	FOXC1	c.532G>C	NM_001453.3	NP_001444.2:p.(Asp178His)	NC_000006.11:g.1611212G>C	VUS	2 labs	b05ce560b7
14:64681193 SYNE2 C>T	14	64681193	64681193	C	T	SYNE2	c.19333+5C>T	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64681193C>T	(Likely) benign	2 labs	b06c58b1b2
6:110944072 CDK19 G>A	6	110944072	110944072	G	A	CDK19	c.845C>T	NM_001300960.2	NP_001287889.1:p.(Ser282Leu)	NC_000006.11:g.110944072G>A	VUS	2 labs	b06ca301f5
17:74475975 RHBDF2 C>A	17	74475975	74475975	C	A	RHBDF2	c.199G>T	NM_024599.5	NP_078875.4:p.(Ala67Ser)	NC_000017.10:g.74475975C>A	(Likely) benign	2 labs	b06dfa4778
1:160093222 ATP1A2 C>T	1	160093222	160093222	C	T	ATP1A2	c.381+16C>T	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160093222C>T	(Likely) benign	2 labs	b07959b34f
11:116662579 APOA5 C>T	11	116662579	116662579	C	T	APOA5	c.-3G>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662579C>T	(Likely) benign	2 labs	b08386597c
14:50092471 DNAAF2 T>C	14	50092471	50092471	T	C	DNAAF2	c.2303A>G	NM_018139.3	NP_060609.2:p.(Asp768Gly)	NC_000014.8:g.50092471T>C	(Likely) benign	2 labs	b08afe0a14
16:88804135 PIEZO1 C>G	16	88804135	88804135	C	G	PIEZO1	c.1107+1G>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88804135C>G	VUS	2 labs	d7fbdb4042
14:67610127 GPHN T>C	14	67610127	67610127	T	C	GPHN	c.1797T>C	NM_020806.5	NP_065857.1:p.(Asp599=)	NC_000014.8:g.67610127T>C	(Likely) benign	2 labs	b096c293cf
2:179451489 TTN T>C	2	179451489	179451489	T	C	TTN	c.64139A>G	NM_001267550.2	NP_001254479.2:p.(Lys21380Arg)	NC_000002.11:g.179451489T>C	VUS	2 labs	b09d193fa1
6:43014298 CUL7 T>C	6	43014298	43014298	T	C	CUL7	c.2535A>G	NM_001168370.2	NP_001161842.2:p.(Gln845=)	NC_000006.11:g.43014298T>C	(Likely) benign	2 labs	b09e5cec27
1:16376191 CLCNKB C>T	1	16376191	16376191	C	T	CLCNKB	c.860C>T	NM_000085.5	NP_000076.2:p.(Ala287Val)	NC_000001.10:g.16376191C>T	(Likely) benign	2 labs	b0bd7475b4
X:129148226 BCORL1 T>C	X	129148226	129148226	T	C	BCORL1	c.1478T>C	NM_021946.5	NP_068765.3:p.(Val493Ala)	NC_000023.10:g.129148226T>C	VUS	2 labs	b0c551fdaf
17:62050057 SCN4A C>T	17	62050057	62050057	C	T	SCN4A	c.145G>A	NM_000334.4	NP_000325.4:p.(Glu49Lys)	NC_000017.10:g.62050057C>T	VUS	2 labs	d860439d89
3:14174454 TMEM43 G>T	3	14174454	14174454	G	T	TMEM43	c.512+19G>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174454G>T	(Likely) benign	5 labs	b0c7334fae
2:179474015 TTN C>A	2	179474015	179474015	C	A	TTN	c.52022G>T	NM_001267550.2	NP_001254479.2:p.(Arg17341Leu)	NC_000002.11:g.179474015C>A	VUS	2 labs	b0cd36d929
16:16276682 ABCC6 C>T	16	16276682	16276682	C	T	ABCC6	c.2049G>A	NM_001171.6	NP_001162.5:p.(Val683=)	NC_000016.9:g.16276682C>T	VUS	2 labs	b0d4d8692b
8:59411001 CYP7A1 A>T	8	59411001	59411001	A	T	CYP7A1	c.108T>A	NM_000780.4	NP_000771.2:p.(Asn36Lys)	NC_000008.10:g.59411001A>T	VUS	2 labs	b0dfa8bfa6
6:112466091 LAMA4 G>A	6	112466091	112466091	G	A	LAMA4	c.2398C>T	NM_001105206.3	NP_001098676.2:p.(Arg800Cys)	NC_000006.11:g.112466091G>A	VUS	3 labs	b0e8b6a0b3
5:90159685 ADGRV1 G>A	5	90159685	90159685	G	A	ADGRV1	c.17856+11G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90159685G>A	(Likely) benign	3 labs	b10ef695b0
5:13708395 DNAH5 A>C	5	13708395	13708395	A	C	DNAH5	c.13175T>G	NM_001369.3	NP_001360.1:p.(Phe4392Cys)	NC_000005.9:g.13708395A>C	VUS	2 labs	b111e57932
15:89400584 ACAN C>T	15	89400584	89400584	C	T	ACAN	c.4768C>T	NM_013227.4	NP_037359.3:p.(Pro1590Ser)	NC_000015.9:g.89400584C>T	VUS	2 labs	b112d812ad
14:58899156 KIAA0586 AG>A	14	58899156	58899157	AG	A	KIAA0586	c.392del	NM_001329944.2	NP_001316873.1:p.(Arg131LysfsTer4)	NC_000014.8:g.58899157del	(Likely) pathogenic	6 labs	b120c15e52
13:110859069 COL4A1 G>C	13	110859069	110859069	G	C	COL4A1	c.808-7C>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110859069G>C	(Likely) benign	3 labs	b138443eb4
8:106801042 ZFPM2 G>C	8	106801042	106801042	G	C	ZFPM2	c.629G>C	NM_012082.4	NP_036214.2:p.(Ser210Thr)	NC_000008.10:g.106801042G>C	(Likely) benign	3 labs	b13ed56a0c
7:91712698 AKAP9 A>G	7	91712698	91712698	A	G	AKAP9	c.8375A>G	NM_005751.5	NP_005742.4:p.(Asn2792Ser)	NC_000007.13:g.91712698A>G	(Likely) benign	2 labs	b144c8ca5b
11:31815362 PAX6 G>A	11	31815362	31815362	G	A	PAX6	c.759-12C>T	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31815362G>A	(Likely) benign	5 labs	b1620cf117
12:102064118 MYBPC1 T>C	12	102064118	102064118	T	C	MYBPC1	c.2544T>C	NM_002465.4	NP_002456.2:p.(Ile848=)	NC_000012.11:g.102064118T>C	(Likely) benign	3 labs	b16395f721
1:66102257 LEPR G>A	1	66102257	66102257	G	A	LEPR	c.3057G>A	NM_002303.6	NP_002294.2:p.(Pro1019=)	NC_000001.10:g.66102257G>A	(Likely) benign	3 labs	b1714f96da
3:164764719 SI C>A	3	164764719	164764719	C	A	SI	c.1797G>T	NM_001041.4	NP_001032.2:p.(Ala599=)	NC_000003.11:g.164764719C>A	(Likely) benign	2 labs	b1748c5011
10:112541062 RBM20 G>A	10	112541062	112541062	G	A	RBM20	c.695G>A	NM_001134363.3	NP_001127835.2:p.(Gly232Asp)	NC_000010.10:g.112541062G>A	(Likely) benign	6 labs	b17653971a
15:67528398 AAGAB G>A	15	67528398	67528398	G	A	AAGAB	c.370C>T	NM_024666.5	NP_078942.3:p.(Arg124Ter)	NC_000015.9:g.67528398G>A	(Likely) pathogenic	2 labs	b17f2707aa
22:29130702 CHEK2 C>A	22	29130702	29130702	C	A	CHEK2	c.8G>T	NM_007194.4	NP_009125.1:p.(Arg3Leu)	NC_000022.10:g.29130702C>A	VUS	2 labs	b19013d150
9:21971199 CDKN2A C>T	9	21971199	21971199	C	T	CDKN2A	c.159G>A	NM_000077.5	NP_000068.1:p.(Met53Ile)	NC_000009.11:g.21971199C>T	(Likely) pathogenic	2 labs	b19b35a267
15:40494791 BUB1B C>T	15	40494791	40494791	C	T	BUB1B	c.1630C>T	NM_001211.6	NP_001202.5:p.(Pro544Ser)	NC_000015.9:g.40494791C>T	(Likely) benign	2 labs	b19cf2ddef
X:153296697 MECP2 G>A	X	153296697	153296697	G	A	MECP2	c.582C>T	NM_004992.4	NP_004983.1:p.(Ser194=)	NC_000023.10:g.153296697G>A	(Likely) benign	5 labs	b1ba388444
15:85360765 ALPK3 C>G	15	85360765	85360765	C	G	ALPK3	c.82C>G	NM_020778.5	NP_065829.4:p.(Pro28Ala)	NC_000015.9:g.85360765C>G	VUS	2 labs	b1db591b0e
2:109382936 RANBP2 T>A	2	109382936	109382936	T	A	RANBP2	c.5941T>A	NM_006267.5	NP_006258.3:p.(Ser1981Thr)	NC_000002.11:g.109382936T>A	(Likely) benign	2 labs	b1c10612a4
1:201020105 CACNA1S A>G	1	201020105	201020105	A	G	CACNA1S	c.4113+7T>C	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201020105A>G	(Likely) benign	2 labs	b1c9576d68
19:11353770 DOCK6 G>A	19	11353770	11353770	G	A	DOCK6	c.1445C>T	NM_020812.4	NP_065863.2:p.(Pro482Leu)	NC_000019.9:g.11353770G>A	VUS	2 labs	b1e48a85af
10:50863185 CHAT G>A	10	50863185	50863185	G	A	CHAT	c.1679G>A	NM_020549.5	NP_065574.4:p.(Arg560His)	NC_000010.10:g.50863185G>A	VUS	3 labs	b1e784c975
14:23857351 MYH6 G>A	14	23857351	23857351	G	A	MYH6	c.4359+13C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857351G>A	(Likely) benign	4 labs	b1effb29f6
12:12871067 CDKN1B C>T	12	12871067	12871067	C	T	CDKN1B	c.294C>T	NM_004064.5	NP_004055.1:p.(Ala98=)	NC_000012.11:g.12871067C>T	(Likely) benign	2 labs	b1f5ac1867
X:47308224 ZNF41 A>C	X	47308224	47308224	A	C	ZNF41	c.945T>G	NM_007130.4	NP_009061.1:p.(Asp315Glu)	NC_000023.10:g.47308224A>C	(Likely) benign	2 labs	b2019c95a2
2:179641218 TTN G>T	2	179641218	179641218	G	T	TTN	c.5373C>A	NM_133378.4	NP_596869.4:p.(Thr1791=)	NC_000002.11:g.179641218G>T	(Likely) benign	2 labs	b2088b8b5b
14:23866440 MYH6 G>A	14	23866440	23866440	G	A	MYH6	c.1989C>T	NM_002471.4	NP_002462.2:p.(Asn663=)	NC_000014.8:g.23866440G>A	(Likely) benign	5 labs	b20b7f79f2
5:41158863 C6 G>A	5	41158863	41158863	G	A	C6	c.1881C>T	NM_001115131.4	NP_001108603.2:p.(Asp627=)	NC_000005.9:g.41158863G>A	(Likely) benign	2 labs	b20e50c2cb
11:66488550 SPTBN2 C>T	11	66488550	66488550	C	T	SPTBN2	c.157+5G>A	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66488550C>T	(Likely) benign	2 labs	b216a75ac6
2:179612511 TTN G>A	2	179612511	179612511	G	A	TTN	c.14616C>T	NM_133379.5	NP_596870.2:p.(Ser4872=)	NC_000002.11:g.179612511G>A	(Likely) benign	4 labs	b21ca5c82c
2:170103336 LRP2 T>C	2	170103336	170103336	T	C	LRP2	c.3069A>G	NM_004525.3	NP_004516.2:p.(Thr1023=)	NC_000002.11:g.170103336T>C	(Likely) benign	2 labs	b23d875d52
13:32914277 BRCA2 A>G	13	32914277	32914277	A	G	BRCA2	c.5785A>G	NM_000059.4	NP_000050.3:p.(Ile1929Val)	NC_000013.10:g.32914277A>G	(Likely) benign	6 labs	b23dd3fca6
16:84209864 DNAAF1 G>C	16	84209864	84209864	G	C	DNAAF1	c.2024G>C	NM_178452.6	NP_848547.4:p.(Ser675Thr)	NC_000016.9:g.84209864G>C	(Likely) benign	2 labs	b23ebaf7f3
1:237778014 RYR2 C>T	1	237778014	237778014	C	T	RYR2	c.5586C>T	NM_001035.3	NP_001026.2:p.(Asp1862=)	NC_000001.10:g.237778014C>T	(Likely) benign	5 labs	b23ef30129
3:164777677 SI T>G	3	164777677	164777677	T	G	SI	c.1146+13A>C	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164777677T>G	(Likely) benign	2 labs	b240c084b0
2:220422774 OBSL1 A>G	2	220422774	220422774	A	G	OBSL1	c.3561T>C	NM_015311.3	NP_056126.1:p.(Pro1187=)	NC_000002.11:g.220422774A>G	(Likely) benign	2 labs	b240f4bc64
22:51117137 SHANK3 G>A	22	51117137	51117137	G	A	SHANK3	c.673+16G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117137G>A	(Likely) benign	2 labs	b248b54cba
13:110807707 COL4A1 C>T	13	110807707	110807707	C	T	COL4A1	c.4678G>A	NM_001845.6	NP_001836.3:p.(Val1560Met)	NC_000013.10:g.110807707C>T	VUS	2 labs	dad95ca73e
X:119581776 LAMP2 C>T	X	119581776	119581776	C	T	LAMP2	c.661G>A	NM_002294.3	NP_002285.1:p.(Gly221Arg)	NC_000023.10:g.119581776C>T	(Likely) benign	6 labs	b25c4ceccb
X:133607438 HPRT1 A>C	X	133607438	133607438	A	C	HPRT1	c.77A>C	NM_000194.3	NP_000185.1:p.(Asn26Thr)	NC_000023.10:g.133607438A>C	VUS	2 labs	b26d54ef9e
14:23242828 SLC7A7 T>C	14	23242828	23242828	T	C	SLC7A7	c.1527A>G	NM_001126106.4	NP_001119578.1:p.(Lys509=)	NC_000014.8:g.23242828T>C	(Likely) benign	3 labs	b279884b4b
3:183858377 EIF2B5 C>T	3	183858377	183858377	C	T	EIF2B5	c.1015C>T	NM_003907.3	NP_003898.2:p.(Arg339Trp)	NC_000003.11:g.183858377C>T	(Likely) pathogenic	2 labs	b27cb70c65
X:76937963 ATRX G>C	X	76937963	76937963	G	C	ATRX	c.2785=	NM_000489.6	NP_000480.3:p.(Glu929=)	NC_000023.10:g.76937963G>C	(Likely) benign	2 labs	b28a5a9663
2:179432628 TTN G>T	2	179432628	179432628	G	T	TTN	c.78231C>A	NM_001267550.2	NP_001254479.2:p.(Ser26077Arg)	NC_000002.11:g.179432628G>T	VUS	2 labs	b29809c3a9
11:47371414 MYBPC3 C>T	11	47371414	47371414	C	T	MYBPC3	c.565G>A	NM_000256.3	NP_000247.2:p.(Val189Ile)	NC_000011.9:g.47371414C>T	(Likely) benign	4 labs	b29b22dc08
2:179594955 TTN G>A	2	179594955	179594955	G	A	TTN	c.18172C>T	NM_001267550.2	NP_001254479.2:p.(Arg6058Cys)	NC_000002.11:g.179594955G>A	VUS	3 labs	b2c0418d49
17:39727816 KRT9 T>G	17	39727816	39727816	T	G	KRT9	c.429A>C	NM_000226.4	NP_000217.2:p.(Gly143=)	NC_000017.10:g.39727816T>G	(Likely) benign	2 labs	b2d9ee774d
11:47359343 MYBPC3 C>T	11	47359343	47359343	C	T	MYBPC3	c.2311G>A	NM_000256.3	NP_000247.2:p.(Val771Met)	NC_000011.9:g.47359343C>T	VUS	4 labs	b2e4543fac
15:89870178 POLG C>A	15	89870178	89870178	C	A	POLG	c.1550G>T	NM_002693.2	NP_002684.1:p.(Gly517Val)	NC_000015.9:g.89870178C>A	(Likely) benign	5 labs	b2e534cb2c
15:43892893 STRC A>G	15	43892893	43892893	A	G	STRC	c.4845-13T>C	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43892893A>G	(Likely) benign	2 labs	b2f0c65725
7:33423363 BBS9 AAAAC>A	7	33423363	33423368	AAAAC	A	BBS9	c.1877_1880del	NM_198428.3	NP_940820.1:p.(Lys626ArgfsTer22)	NC_000007.13:g.33423365_33423368del	(Likely) pathogenic	4 labs	b2fe28bff6
6:7582993 DSP A>T	6	7582993	7582993	A	T	DSP	c.5498A>T	NM_004415.4	NP_004406.2:p.(Glu1833Val)	NC_000006.11:g.7582993A>T	(Likely) benign	6 labs	b3028a2b3d
17:39914694 JUP C>T	17	39914694	39914694	C	T	JUP	c.1730G>A	NM_001352773.2	NP_001339702.1:p.(Arg577His)	NC_000017.10:g.39914694C>T	VUS	4 labs	b305efc410
22:21348563 LZTR1 G>A	22	21348563	21348563	G	A	LZTR1	c.1615+5G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21348563G>A	VUS	2 labs	b38be117ff
22:29095881 CHEK2 C>T	22	29095881	29095881	C	T	CHEK2	c.953G>A	NM_007194.4	NP_009125.1:p.(Arg318His)	NC_000022.10:g.29095881C>T	VUS	2 labs	b30a7a04e4
5:43609343 NNT C>T	5	43609343	43609343	C	T	NNT	c.46C>T	NM_012343.4	NP_036475.3:p.(Leu16=)	NC_000005.9:g.43609343C>T	(Likely) benign	2 labs	b30efef331
14:23866243 MYH6 G>A	14	23866243	23866243	G	A	MYH6	c.2097C>T	NM_002471.4	NP_002462.2:p.(Gly699=)	NC_000014.8:g.23866243G>A	(Likely) benign	3 labs	b322b56826
7:6043348 PMS2 T>TC	7	6043348	6043354	T	TC	PMS2	c.325dup	NM_000535.7	NP_000526.2:p.(Glu109GlyfsTer30)	NC_000007.13:g.6043354dup	(Likely) pathogenic	2 labs	b32c8cdcc1
14:105180565 INF2 T>C	14	105180565	105180565	T	C	INF2	c.3066T>C	NM_022489.4	NP_071934.3:p.(Asp1022=)	NC_000014.8:g.105180565T>C	(Likely) benign	3 labs	b32d689d88
5:95733112 PCSK1 A>G	5	95733112	95733112	A	G	PCSK1	c.1650T>C	NM_000439.5	NP_000430.3:p.(Asn550=)	NC_000005.9:g.95733112A>G	(Likely) benign	3 labs	b32e46c784
X:15349467 PIGA C>T	X	15349467	15349467	C	T	PIGA	c.586G>A	NM_002641.4	NP_002632.1:p.(Ala196Thr)	NC_000023.10:g.15349467C>T	VUS	2 labs	b33c602cf0
2:179605726 TTN G>C	2	179605726	179605726	G	C	TTN	c.12234C>G	NM_001267550.2	NP_001254479.2:p.(Thr4078=)	NC_000002.11:g.179605726G>C	(Likely) benign	5 labs	b34e3d9011
4:6303576 WFS1 G>A	4	6303576	6303576	G	A	WFS1	c.2054G>A	NM_006005.3	NP_005996.2:p.(Arg685His)	NC_000004.11:g.6303576G>A	VUS	2 labs	b3543bc884
2:179462345 TTN C>T	2	179462345	179462345	C	T	TTN	c.57464G>A	NM_001267550.2	NP_001254479.2:p.(Arg19155Lys)	NC_000002.11:g.179462345C>T	(Likely) benign	4 labs	b35c0ddec8
2:215610562 BARD1 C>T	2	215610562	215610562	C	T	BARD1	c.1694G>A	NM_000465.4	NP_000456.2:p.(Arg565His)	NC_000002.11:g.215610562C>T	(Likely) benign	3 labs	b3661f1263
2:219746977 WNT10A C>T	2	219746977	219746977	C	T	WNT10A	c.208C>T	NM_025216.3	NP_079492.2:p.(Arg70Trp)	NC_000002.11:g.219746977C>T	VUS	2 labs	b3723e832e
7:103191738 RELN G>A	7	103191738	103191738	G	A	RELN	c.6078C>T	NM_005045.4	NP_005036.2:p.(Asn2026=)	NC_000007.13:g.103191738G>A	(Likely) benign	2 labs	b373808bc1
6:24505155 ALDH5A1 G>A	6	24505155	24505155	G	A	ALDH5A1	c.668G>A	NM_001080.3	NP_001071.1:p.(Cys223Tyr)	NC_000006.11:g.24505155G>A	(Likely) pathogenic	2 labs	b3874fb0f9
2:166848003 SCN1A G>C	2	166848003	166848003	G	C	SCN1A	c.5782C>G	NM_001165963.4	NP_001159435.1:p.(Arg1928Gly)	NC_000002.11:g.166848003G>C	(Likely) benign	3 labs	b397585229
12:122248505 SETD1B C>T	12	122248505	122248505	C	T	SETD1B	c.1654C>T	NM_001353345.2	NP_001340274.1:p.(Pro552Ser)	NC_000012.11:g.122248505C>T	(Likely) benign	3 labs	b39978c009
2:179462404 TTN T>C	2	179462404	179462404	T	C	TTN	c.57405A>G	NM_001267550.2	NP_001254479.2:p.(Gln19135=)	NC_000002.11:g.179462404T>C	(Likely) benign	4 labs	b39cea0f5d
2:179402456 TTN C>T	2	179402456	179402456	C	T	TTN	c.99478G>A	NM_001267550.2	NP_001254479.2:p.(Val33160Ile)	NC_000002.11:g.179402456C>T	VUS	2 labs	b3a3f78398
12:88472996 CEP290 C>T	12	88472996	88472996	C	T	CEP290	c.5237G>A	NM_025114.4	NP_079390.3:p.(Arg1746Gln)	NC_000012.11:g.88472996C>T	(Likely) benign	5 labs	b3ba7b9133
2:179406003 TTN C>A	2	179406003	179406003	C	A	TTN	c.97795+6G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179406003C>A	(Likely) benign	2 labs	b3bffe7bac
10:85972043 CDHR1 A>G	10	85972043	85972043	A	G	CDHR1	c.1662A>G	NM_033100.4	NP_149091.1:p.(Glu554=)	NC_000010.10:g.85972043A>G	(Likely) benign	2 labs	b3cbd34ae7
13:23824783 SGCG T>G	13	23824783	23824783	T	G	SGCG	c.312T>G	NM_000231.3	NP_000222.2:p.(Leu104=)	NC_000013.10:g.23824783T>G	(Likely) benign	2 labs	b3cc726068
12:15656832 PTPRO T>A	12	15656832	15656832	T	A	PTPRO	c.1106-10T>A	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15656832T>A	(Likely) benign	2 labs	b3cd13441c
2:179413898 TTN C>T	2	179413898	179413898	C	T	TTN	c.92455G>A	NM_001267550.2	NP_001254479.2:p.(Val30819Ile)	NC_000002.11:g.179413898C>T	VUS	2 labs	b3cf40b222
2:179558419 TTN T>C	2	179558419	179558419	T	C	TTN	c.31514-3A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179558419T>C	VUS	2 labs	b3cfeeef64
16:7759066 RBFOX1 G>A	16	7759066	7759066	G	A	RBFOX1	c.1004G>A	NM_018723.4	NP_061193.2:p.(Arg335Gln)	NC_000016.9:g.7759066G>A	VUS	2 labs	b3d2af137c
19:18979844 GDF1 G>T	19	18979844	18979844	G	T	GDF1	c.681C>A	NM_001492.6	NP_001483.3:p.(Cys227Ter)	NC_000019.9:g.18979844G>T	(Likely) pathogenic	5 labs	b3d60cde86
2:179599473 TTN C>G	2	179599473	179599473	C	G	TTN	c.15178G>C	NM_001267550.2	NP_001254479.2:p.(Val5060Leu)	NC_000002.11:g.179599473C>G	(Likely) benign	6 labs	b3d62f2c40
11:17408909 KCNJ11 C>T	11	17408909	17408909	C	T	KCNJ11	c.730G>A	NM_000525.4	NP_000516.3:p.(Val244Met)	NC_000011.9:g.17408909C>T	VUS	2 labs	b3e8afaa8c
10:121431787 BAG3 C>T	10	121431787	121431787	C	T	BAG3	c.528C>T	NM_004281.4	NP_004272.2:p.(Ala176=)	NC_000010.10:g.121431787C>T	(Likely) benign	2 labs	b3ecd67b89
15:63335156 TPM1 C>T	15	63335156	63335156	C	T	TPM1	c.114+14C>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63335156C>T	(Likely) benign	5 labs	b3f03b15ff
17:41219625 BRCA1 C>T	17	41219625	41219625	C	T	BRCA1	c.5074G>A	NM_007294.4	NP_009225.1:p.(Asp1692Asn)	NC_000017.10:g.41219625C>T	(Likely) pathogenic	2 labs	b3f41f0b56
2:179641444 TTN C>T	2	179641444	179641444	C	T	TTN	c.5147G>A	NM_001267550.2	NP_001254479.2:p.(Arg1716His)	NC_000002.11:g.179641444C>T	VUS	2 labs	b3f9b649ff
10:75855428 VCL C>T	10	75855428	75855428	C	T	VCL	c.1558C>T	NM_014000.3	NP_054706.1:p.(Arg520Trp)	NC_000010.10:g.75855428C>T	VUS	2 labs	b40334b92f
2:179595052 TTN G>A	2	179595052	179595052	G	A	TTN	c.18075C>T	NM_001267550.2	NP_001254479.2:p.(Pro6025=)	NC_000002.11:g.179595052G>A	(Likely) benign	4 labs	b409721d1b
1:227073248 PSEN2 G>A	1	227073248	227073248	G	A	PSEN2	c.366G>A	NM_000447.3	NP_000438.2:p.(Thr122=)	NC_000001.10:g.227073248G>A	(Likely) benign	3 labs	b40e1447e9
1:237713958 RYR2 G>A	1	237713958	237713958	G	A	RYR2	c.3181G>A	NM_001035.3	NP_001026.2:p.(Gly1061Ser)	NC_000001.10:g.237713958G>A	VUS	3 labs	b410c24df6
17:33445642 RAD51D C>T	17	33445642	33445642	C	T	RAD51D	c.144+488G>A	NM_001142571.2	NP_001136043.1:p.?	NC_000017.10:g.33445642C>T	(Likely) benign	3 labs	b41b06321c
12:23696205 SOX5 G>A	12	23696205	23696205	G	A	SOX5	c.1711C>T	NM_006940.6	NP_008871.3:p.(Arg571Trp)	NC_000012.11:g.23696205G>A	VUS	2 labs	b424304bdf
15:23052632 NIPA1 T>C	15	23052632	23052632	T	C	NIPA1	c.441A>G	NM_144599.5	NP_653200.2:p.(Thr147=)	NC_000015.9:g.23052632T>C	(Likely) benign	3 labs	b424fc637e
5:1216900 SLC6A19 G>A	5	1216900	1216900	G	A	SLC6A19	c.1017-4G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1216900G>A	(Likely) benign	3 labs	b429e94eb1
17:2585113 PAFAH1B1 C>T	17	2585113	2585113	C	T	PAFAH1B1	c.*17C>T	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2585113C>T	(Likely) benign	2 labs	b42dde8f8b
2:179472209 TTN G>A	2	179472209	179472209	G	A	TTN	c.53206C>T	NM_001267550.2	NP_001254479.2:p.(Arg17736Ter)	NC_000002.11:g.179472209G>A	(Likely) pathogenic	2 labs	b44b0fb3e8
19:11240213 LDLR G>A	19	11240213	11240213	G	A	LDLR	c.2414G>A	NM_000527.5	NP_000518.1:p.(Gly805Glu)	NC_000019.9:g.11240213G>A	(Likely) pathogenic	2 labs	b45569a3ca
16:3778933 CREBBP C>T	16	3778933	3778933	C	T	CREBBP	c.6115G>A	NM_004380.3	NP_004371.2:p.(Val2039Met)	NC_000016.9:g.3778933C>T	(Likely) benign	2 labs	b461de2dce
10:95405814 PDE6C C>A	10	95405814	95405814	C	A	PDE6C	c.1935+10C>A	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95405814C>A	(Likely) benign	2 labs	b467988094
3:9506277 SETD5 G>A	3	9506277	9506277	G	A	SETD5	c.2645G>A	NM_001080517.3	NP_001073986.1:p.(Arg882Gln)	NC_000003.11:g.9506277G>A	(Likely) benign	2 labs	b4703815b0
3:123071311 ADCY5 G>A	3	123071311	123071311	G	A	ADCY5	c.1252C>T	NM_183357.3	NP_899200.1:p.(Arg418Trp)	NC_000003.11:g.123071311G>A	(Likely) pathogenic	4 labs	b47955e08f
8:90983439 NBN A>G	8	90983439	90983439	A	G	NBN	c.664T>C	NM_002485.5	NP_002476.2:p.(Phe222Leu)	NC_000008.10:g.90983439A>G	VUS	2 labs	b479d6824f
3:24169176 THRB G>A	3	24169176	24169176	G	A	THRB	c.958C>T	NM_000461.5	NP_000452.2:p.(Arg320Cys)	NC_000003.11:g.24169176G>A	(Likely) pathogenic	2 labs	b48525280b
2:179410190 TTN C>T	2	179410190	179410190	C	T	TTN	c.95647G>A	NM_001267550.2	NP_001254479.2:p.(Val31883Met)	NC_000002.11:g.179410190C>T	VUS	2 labs	b490c91d89
2:179444113 TTN A>G	2	179444113	179444113	A	G	TTN	c.67644T>C	NM_001267550.2	NP_001254479.2:p.(Pro22548=)	NC_000002.11:g.179444113A>G	(Likely) benign	2 labs	b4962171aa
11:108216479 ATM A>C	11	108216479	108216479	A	C	ATM	c.8428A>C	NM_000051.4	NP_000042.3:p.(Lys2810Gln)	NC_000011.9:g.108216479A>C	VUS	2 labs	b4a6415528
17:60042761 MED13 T>G	17	60042761	60042761	T	G	MED13	c.4450A>C	NM_005121.3	NP_005112.2:p.(Ser1484Arg)	NC_000017.10:g.60042761T>G	(Likely) benign	2 labs	b4aaebda77
14:88401213 GALC T>C	14	88401213	88401213	T	C	GALC	c.1921A>G	NM_000153.4	NP_000144.2:p.(Thr641Ala)	NC_000014.8:g.88401213T>C	(Likely) benign	2 labs	b4ae918850
5:52402939 MOCS2 T>TG	5	52402939	52402946	T	TG	MOCS2	c.65dup	NM_004531.5	NP_004522.1:p.(Leu23IlefsTer5)	NC_000005.9:g.52402946dup	(Likely) pathogenic	2 labs	b4b67051bf
19:11326119 DOCK6 A>G	19	11326119	11326119	A	G	DOCK6	c.4050T>C	NM_020812.4	NP_065863.2:p.(Asn1350=)	NC_000019.9:g.11326119A>G	(Likely) benign	2 labs	b4c0c4fb94
X:119603028 LAMP2 C>G	X	119603028	119603028	C	G	LAMP2	c.-4G>C	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119603028C>G	(Likely) benign	2 labs	b4c447a357
17:46607021 HOXB1 T>C	17	46607021	46607021	T	C	HOXB1	c.794A>G	NM_002144.4	NP_002135.2:p.(Glu265Gly)	NC_000017.10:g.46607021T>C	(Likely) benign	2 labs	b4c8dec526
17:7752244 KDM6B C>G	17	7752244	7752244	C	G	KDM6B	c.2638C>G	NM_001080424.2	NP_001073893.1:p.(Arg880Gly)	NC_000017.10:g.7752244C>G	(Likely) benign	2 labs	b4cc073bda
3:121994806 CASR G>A	3	121994806	121994806	G	A	CASR	c.1525G>A	NM_000388.4	NP_000379.3:p.(Gly509Arg)	NC_000003.11:g.121994806G>A	(Likely) pathogenic	2 labs	b4d5b5b7d0
20:43280227 ADA C>T	20	43280227	43280227	C	T	ADA	c.22G>A	NM_000022.4	NP_000013.2:p.(Asp8Asn)	NC_000020.10:g.43280227C>T	(Likely) benign	3 labs	b4d82dc9d6
6:7580806 DSP G>A	6	7580806	7580806	G	A	DSP	c.4383G>A	NM_004415.4	NP_004406.2:p.(Glu1461=)	NC_000006.11:g.7580806G>A	(Likely) benign	5 labs	b4dad2f58b
6:121768861 GJA1 A>G	6	121768861	121768861	A	G	GJA1	c.868A>G	NM_000165.5	NP_000156.1:p.(Thr290Ala)	NC_000006.11:g.121768861A>G	VUS	2 labs	b4e44d0fba
11:108164059 ATM A>G	11	108164059	108164059	A	G	ATM	c.4631A>G	NM_000051.4	NP_000042.3:p.(Tyr1544Cys)	NC_000011.9:g.108164059A>G	VUS	4 labs	b4e7a385e3
1:3342786 PRDM16 A>G	1	3342786	3342786	A	G	PRDM16	c.3281A>G	NM_022114.4	NP_071397.3:p.(Lys1094Arg)	NC_000001.10:g.3342786A>G	VUS	2 labs	de149172fc
3:14172308 TMEM43 C>T	3	14172308	14172308	C	T	TMEM43	c.163-14C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14172308C>T	(Likely) benign	5 labs	b4eda31570
1:55524211 PCSK9 C>T	1	55524211	55524211	C	T	PCSK9	c.1394C>T	NM_174936.4	NP_777596.2:p.(Ser465Leu)	NC_000001.10:g.55524211C>T	(Likely) pathogenic	2 labs	b4f31d6ee7
4:6621751 MAN2B2 C>T	4	6621751	6621751	C	T	MAN2B2	c.2912C>T	NM_015274.3	NP_056089.1:p.(Thr971Met)	NC_000004.11:g.6621751C>T	VUS	2 labs	b4fab8520d
11:16256171 SOX6 T>G	11	16256171	16256171	T	G	SOX6	c.492A>C	NM_033326.3	NP_201583.2:p.(Lys164Asn)	NC_000011.9:g.16256171T>G	VUS	2 labs	b511d09dff
17:41267805 BRCA1 G>C	17	41267805	41267805	G	C	BRCA1	c.-8+8229C>G	NM_007297.4	NP_009228.2:p.?	NC_000017.10:g.41267805G>C	(Likely) pathogenic	3 labs	b5237c8e34
3:37053562 MLH1 C>T	3	37053562	37053562	C	T	MLH1	c.649C>T	NM_000249.4	NP_000240.1:p.(Arg217Cys)	NC_000003.11:g.37053562C>T	(Likely) benign	2 labs	b52f0f1310
2:74274768 TET3 C>A	2	74274768	74274768	C	A	TET3	c.1724C>A	NM_001287491.2	NP_001274420.1:p.(Pro575His)	NC_000002.11:g.74274768C>A	VUS	2 labs	b53f6ffbfb
11:62381106 ROM1 G>C	11	62381106	62381106	G	C	ROM1	c.353G>C	NM_000327.4	NP_000318.2:p.(Gly118Ala)	NC_000011.9:g.62381106G>C	(Likely) benign	2 labs	b53ff941c7
12:33049590 PKP2 C>T	12	33049590	33049590	C	T	PKP2	c.76G>A	NM_004572.4	NP_004563.2:p.(Asp26Asn)	NC_000012.11:g.33049590C>T	(Likely) benign	6 labs	b54015a169
21:34921896 SON A>G	21	34921896	34921896	A	G	SON	c.359A>G	NM_032195.3	NP_115571.3:p.(Lys120Arg)	NC_000021.8:g.34921896A>G	(Likely) benign	2 labs	b54193d9b9
8:10466482 RP1L1 G>A	8	10466482	10466482	G	A	RP1L1	c.5126C>T	NM_178857.6	NP_849188.4:p.(Ala1709Val)	NC_000008.10:g.10466482G>A	(Likely) benign	2 labs	b54d6f8551
17:37822330 TCAP C>T	17	37822330	37822330	C	T	TCAP	c.472C>T	NM_003673.4	NP_003664.1:p.(Arg158Cys)	NC_000017.10:g.37822330C>T	VUS	2 labs	b55c955a8e
13:32914593 BRCA2 G>A	13	32914593	32914593	G	A	BRCA2	c.6101G>A	NM_000059.4	NP_000050.3:p.(Arg2034His)	NC_000013.10:g.32914593G>A	(Likely) benign	3 labs	b55cec99f6
1:237895351 RYR2 T>G	1	237895351	237895351	T	G	RYR2	c.10941T>G	NM_001035.3	NP_001026.2:p.(Pro3647=)	NC_000001.10:g.237895351T>G	(Likely) benign	5 labs	b55d1ff151
20:57599016 TUBB1 T>G	20	57599016	57599016	T	G	TUBB1	c.534T>G	NM_030773.4	NP_110400.1:p.(Thr178=)	NC_000020.10:g.57599016T>G	(Likely) benign	2 labs	b55f3184e7
11:19213898 CSRP3 G>A	11	19213898	19213898	G	A	CSRP3	c.98C>T	NM_003476.5	NP_003467.1:p.(Thr33Met)	NC_000011.9:g.19213898G>A	VUS	4 labs	b56999acc5
3:48612825 COL7A1 C>T	3	48612825	48612825	C	T	COL7A1	c.6127G>A	NM_000094.4	NP_000085.1:p.(Gly2043Arg)	NC_000003.11:g.48612825C>T	(Likely) pathogenic	2 labs	b569aa277b
2:179396114 TTN C>T	2	179396114	179396114	C	T	TTN	c.105228G>A	NM_001267550.2	NP_001254479.2:p.(Ser35076=)	NC_000002.11:g.179396114C>T	(Likely) benign	4 labs	b57b5fad75
6:170871054 TBP AGCAGCAGCAG>A	6	170871054	170871064	AGCAGCAGCAG	A	TBP	c.231_240del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer64)	NC_000006.11:g.170871055_170871064del	(Likely) benign	2 labs	b58f95d544
7:91632306 AKAP9 C>T	7	91632306	91632306	C	T	AKAP9	c.3075C>T	NM_005751.5	NP_005742.4:p.(Thr1025=)	NC_000007.13:g.91632306C>T	(Likely) benign	2 labs	b598ac7d58
18:48591897 SMAD4 G>C	18	48591897	48591897	G	C	SMAD4	c.1060G>C	NM_005359.6	NP_005350.1:p.(Val354Leu)	NC_000018.9:g.48591897G>C	VUS	2 labs	b59be07e1b
7:103151398 RELN G>A	7	103151398	103151398	G	A	RELN	c.8174C>T	NM_005045.4	NP_005036.2:p.(Ser2725Phe)	NC_000007.13:g.103151398G>A	VUS	2 labs	b5a0395cb4
17:41258484 BRCA1 A>G	17	41258484	41258484	A	G	BRCA1	c.201T>C	NM_007294.4	NP_009225.1:p.(Asp67=)	NC_000017.10:g.41258484A>G	(Likely) benign	2 labs	b5aa0befad
1:103352594 COL11A1 T>G	1	103352594	103352594	T	G	COL11A1	c.4627A>C	NM_001854.4	NP_001845.3:p.(Ile1543Leu)	NC_000001.10:g.103352594T>G	VUS	5 labs	b5bcc47f94
13:32914387 BRCA2 T>G	13	32914387	32914387	T	G	BRCA2	c.5895T>G	NM_000059.4	NP_000050.3:p.(Leu1965=)	NC_000013.10:g.32914387T>G	(Likely) benign	2 labs	b5ce592cbc
2:179597600 TTN C>T	2	179597600	179597600	C	T	TTN	c.16303G>A	NM_001267550.2	NP_001254479.2:p.(Val5435Met)	NC_000002.11:g.179597600C>T	(Likely) benign	4 labs	b5d0f0cd47
6:123687288 TRDN A>C	6	123687288	123687288	A	C	TRDN	c.1313T>G	NM_006073.4	NP_006064.2:p.(Ile438Ser)	NC_000006.11:g.123687288A>C	(Likely) benign	3 labs	b5d692257c
7:91714169 AKAP9 C>A	7	91714169	91714169	C	A	AKAP9	c.8747C>A	NM_005751.5	NP_005742.4:p.(Thr2916Lys)	NC_000007.13:g.91714169C>A	(Likely) benign	2 labs	b5e47e487d
16:70289732 AARS1 G>A	16	70289732	70289732	G	A	AARS1	c.2185C>T	NM_001605.3	NP_001596.2:p.(Arg729Trp)	NC_000016.9:g.70289732G>A	(Likely) benign	3 labs	b5ee21ae38
11:128781339 KCNJ5 T>C	11	128781339	128781339	T	C	KCNJ5	c.171T>C	NM_000890.5	NP_000881.3:p.(Ser57=)	NC_000011.9:g.128781339T>C	(Likely) benign	3 labs	b5ef6a7afa
1:24673119 GRHL3 G>A	1	24673119	24673119	G	A	GRHL3	c.1531G>A	NM_198174.3	NP_937817.3:p.(Asp511Asn)	NC_000001.10:g.24673119G>A	(Likely) benign	2 labs	b603a0079f
12:80712420 OTOGL G>A	12	80712420	80712420	G	A	OTOGL	c.3729G>A	NM_173591.7	NP_775862.4:p.(Pro1243=)	NC_000012.11:g.80712420G>A	(Likely) benign	2 labs	b603e5788c
10:43595999 RET C>A	10	43595999	43595999	C	A	RET	c.166C>A	NM_020975.6	NP_066124.1:p.(Leu56Met)	NC_000010.10:g.43595999C>A	(Likely) benign	4 labs	b60bf8ae24
1:53676371 CPT2 T>C	1	53676371	53676371	T	C	CPT2	c.1025T>C	NM_000098.3	NP_000089.1:p.(Met342Thr)	NC_000001.10:g.53676371T>C	VUS	2 labs	b612fff821
10:89720633 PTEN C>CTT	10	89720633	89720648	C	CTT	PTEN	c.802-4_802-3dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720647_89720648dup	(Likely) benign	4 labs	b615bce4f7
7:117199591 CFTR C>A	7	117199591	117199591	C	A	CFTR	c.1466C>A	NM_000492.4	NP_000483.3:p.(Ser489Ter)	NC_000007.13:g.117199591C>A	(Likely) pathogenic	2 labs	b621fe9f8b
16:3707077 DNASE1 G>A	16	3707077	3707077	G	A	DNASE1	c.514G>A	NM_005223.4	NP_005214.2:p.(Val172Ile)	NC_000016.9:g.3707077G>A	VUS	2 labs	b62320596a
2:179634392 TTN A>T	2	179634392	179634392	A	T	TTN	c.8902+14T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634392A>T	(Likely) benign	5 labs	b633102a2b
2:179600638 TTN G>A	2	179600638	179600638	G	A	TTN	c.14535C>T	NM_001267550.2	NP_001254479.2:p.(Asp4845=)	NC_000002.11:g.179600638G>A	(Likely) benign	2 labs	b63b08146f
14:23886695 MYH7 C>T	14	23886695	23886695	C	T	MYH7	c.4353+17G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886695C>T	(Likely) benign	5 labs	b63c2eb219
X:85213969 CHM C>T	X	85213969	85213969	C	T	CHM	c.716G>A	NM_000390.4	NP_000381.1:p.(Arg239Gln)	NC_000023.10:g.85213969C>T	VUS	2 labs	b63f285a60
3:9985656 CRELD1 C>T	3	9985656	9985656	C	T	CRELD1	c.1119C>T	NM_001031717.4	NP_001026887.2:p.(His373=)	NC_000003.11:g.9985656C>T	(Likely) benign	2 labs	b644626cee
7:82435066 PCLO G>A	7	82435066	82435066	G	A	PCLO	c.14871C>T	NM_033026.6	NP_149015.2:p.(Ser4957=)	NC_000007.13:g.82435066G>A	(Likely) benign	2 labs	b646eea8c1
2:127816743 BIN1 G>T	2	127816743	127816743	G	T	BIN1	c.858-12C>A	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127816743G>T	(Likely) benign	2 labs	b646f8b8b3
11:108160506 ATM T>G	11	108160506	108160506	T	G	ATM	c.4414T>G	NM_000051.4	NP_000042.3:p.(Leu1472Val)	NC_000011.9:g.108160506T>G	VUS	3 labs	b667324a73
3:133465283 TF A>G	3	133465283	133465283	A	G	TF	c.-2A>G	NM_001063.4	NP_001054.2:p.?	NC_000003.11:g.133465283A>G	(Likely) benign	2 labs	b66b065c95
2:167083161 SCN9A G>A	2	167083161	167083161	G	A	SCN9A	c.4281C>T	NM_002977.3	NP_002968.1:p.(Val1427=)	NC_000002.11:g.167083161G>A	(Likely) benign	4 labs	b66d00c573
15:73659991 HCN4 G>C	15	73659991	73659991	G	C	HCN4	c.621C>G	NM_005477.3	NP_005468.1:p.(Arg207=)	NC_000015.9:g.73659991G>C	(Likely) benign	3 labs	b66eb018d5
2:179428901 TTN C>T	2	179428901	179428901	C	T	TTN	c.81958G>A	NM_001267550.2	NP_001254479.2:p.(Ala27320Thr)	NC_000002.11:g.179428901C>T	(Likely) benign	5 labs	b6713a4083
20:61050570 GATA5 T>C	20	61050570	61050570	T	C	GATA5	c.8A>G	NM_080473.5	NP_536721.1:p.(Gln3Arg)	NC_000020.10:g.61050570T>C	(Likely) benign	3 labs	b6804cdf81
5:89979691 ADGRV1 A>G	5	89979691	89979691	A	G	ADGRV1	c.5953A>G	NM_032119.4	NP_115495.3:p.(Asn1985Asp)	NC_000005.9:g.89979691A>G	(Likely) benign	2 labs	b693e534b2
1:237532808 RYR2 TCTC>T	1	237532808	237532813	TCTC	T	RYR2	c.310-23_310-21del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237532811_237532813del	(Likely) benign	2 labs	b6a81054a0
11:20639339 SLC6A5 G>T	11	20639339	20639339	G	T	SLC6A5	c.1169G>T	NM_004211.5	NP_004202.4:p.(Gly390Val)	NC_000011.9:g.20639339G>T	VUS	2 labs	b6a86da43c
3:38519424 ACVR2B A>G	3	38519424	38519424	A	G	ACVR2B	c.333A>G	NM_001106.4	NP_001097.2:p.(Glu111=)	NC_000003.11:g.38519424A>G	(Likely) benign	4 labs	b6ae82dcb5
17:39915113 JUP C>T	17	39915113	39915113	C	T	JUP	c.1507G>A	NM_002230.4	NP_002221.1:p.(Gly503Ser)	NC_000017.10:g.39915113C>T	VUS	3 labs	b6d664337d
17:29496923 NF1 CTGTT>C	17	29496923	29496931	CTGTT	C	NF1	c.499_502del	NM_000267.3	NP_000258.1:p.(Cys167GlnfsTer10)	NC_000017.10:g.29496928_29496931del	(Likely) pathogenic	2 labs	b6def5f610
6:102266246 GRIK2 T>C	6	102266246	102266246	T	C	GRIK2	c.1205T>C	NM_021956.5	NP_068775.1:p.(Ile402Thr)	NC_000006.11:g.102266246T>C	VUS	2 labs	b6ef1c80e8
7:151478464 PRKAG2 G>A	7	151478464	151478464	G	A	PRKAG2	c.240C>T	NM_016203.4	NP_057287.2:p.(Gly80=)	NC_000007.13:g.151478464G>A	(Likely) benign	3 labs	b6f96f945f
14:23858271 MYH6 AG>A	14	23858271	23858281	AG	A	MYH6	c.3979-8del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858281del	(Likely) benign	6 labs	b6ffed94e7
1:237934206 RYR2 C>T	1	237934206	237934206	C	T	RYR2	c.11557+19C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237934206C>T	(Likely) benign	5 labs	b70bbefda7
10:112361870 SMC3 A>G	10	112361870	112361870	A	G	SMC3	c.3039A>G	NM_005445.4	NP_005436.1:p.(Ser1013=)	NC_000010.10:g.112361870A>G	(Likely) benign	2 labs	b70d392b39
2:47220630 TTC7A G>A	2	47220630	47220630	G	A	TTC7A	c.806G>A	NM_001288951.2	NP_001275880.1:p.(Arg269Gln)	NC_000002.11:g.47220630G>A	VUS	2 labs	b71717e2c7
11:77832148 ALG8 T>A	11	77832148	77832148	T	A	ALG8	c.441A>T	NM_024079.5	NP_076984.2:p.(Val147=)	NC_000011.9:g.77832148T>A	(Likely) benign	2 labs	b71800cca4
12:53072548 KRT1 C>T	12	53072548	53072548	C	T	KRT1	c.592-8G>A	NM_006121.4	NP_006112.3:p.?	NC_000012.11:g.53072548C>T	(Likely) benign	2 labs	b724071b97
12:112892398 PTPN11 C>T	12	112892398	112892398	C	T	PTPN11	c.556C>T	NM_002834.5	NP_002825.3:p.(Arg186Trp)	NC_000012.11:g.112892398C>T	VUS	3 labs	b73186ca04
2:179407383 TTN C>T	2	179407383	179407383	C	T	TTN	c.97192+6G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407383C>T	(Likely) benign	3 labs	b732d26af4
11:68171842 LRP5 A>G	11	68171842	68171842	A	G	LRP5	c.16A>G	NM_001291902.2	NP_001278831.1:p.(Thr6Ala)	NC_000011.9:g.68171842A>G	VUS	3 labs	b73a82f345
7:65551738 ASL G>A	7	65551738	65551738	G	A	ASL	c.532G>A	NM_001024943.2	NP_001020114.1:p.(Val178Met)	NC_000007.13:g.65551738G>A	(Likely) pathogenic	3 labs	b73d4c5e5d
1:114437903 AP4B1 G>A	1	114437903	114437903	G	A	AP4B1	c.2004C>T	NM_006594.5	NP_006585.2:p.(Thr668=)	NC_000001.10:g.114437903G>A	(Likely) benign	2 labs	b75987d151
6:87953322 ZNF292 T>G	6	87953322	87953322	T	G	ZNF292	c.871T>G	NM_015021.3	NP_055836.1:p.(Cys291Gly)	NC_000006.11:g.87953322T>G	(Likely) benign	2 labs	b75b3b2ed8
6:70961833 COL9A1 T>C	6	70961833	70961833	T	C	COL9A1	c.1862A>G	NM_001851.6	NP_001842.3:p.(Gln621Arg)	NC_000006.11:g.70961833T>C	(Likely) benign	2 labs	b75c9d6bd9
17:48653264 CACNA1G C>T	17	48653264	48653264	C	T	CACNA1G	c.1501C>T	NM_018896.5	NP_061496.2:p.(His501Tyr)	NC_000017.10:g.48653264C>T	VUS	2 labs	b7634b9023
3:37081683 MLH1 G>A	3	37081683	37081683	G	A	MLH1	c.1565G>A	NM_000249.4	NP_000240.1:p.(Arg522Gln)	NC_000003.11:g.37081683G>A	VUS	3 labs	b7680a872a
X:112058875 AMOT C>T	X	112058875	112058875	C	T	AMOT	c.1103G>A	NM_001113490.2	NP_001106962.1:p.(Arg368His)	NC_000023.10:g.112058875C>T	(Likely) benign	2 labs	b76ba2a158
11:17408630 KCNJ11 C>T	11	17408630	17408630	C	T	KCNJ11	c.1009G>A	NM_000525.4	NP_000516.3:p.(Val337Ile)	NC_000011.9:g.17408630C>T	(Likely) benign	2 labs	b7754d2136
7:56088902 PSPH C>T	7	56088902	56088902	C	T	PSPH	c.4G>A	NM_004577.4	NP_004568.2:p.(Val2Ile)	NC_000007.13:g.56088902C>T	(Likely) benign	2 labs	b7991a9300
20:2413125 TGM6 C>T	20	2413125	2413125	C	T	TGM6	c.1968-11C>T	NM_198994.3	NP_945345.2:p.?	NC_000020.10:g.2413125C>T	(Likely) benign	3 labs	b7acd09ffb
X:54496615 FGD1 G>A	X	54496615	54496615	G	A	FGD1	c.935C>T	NM_004463.3	NP_004454.2:p.(Pro312Leu)	NC_000023.10:g.54496615G>A	(Likely) benign	4 labs	b7b9af1743
16:1573613 IFT140 G>A	16	1573613	1573613	G	A	IFT140	c.3359C>T	NM_014714.4	NP_055529.2:p.(Thr1120Met)	NC_000016.9:g.1573613G>A	VUS	2 labs	b7bc85bac8
2:170032989 LRP2 C>T	2	170032989	170032989	C	T	LRP2	c.10503G>A	NM_004525.3	NP_004516.2:p.(Gln3501=)	NC_000002.11:g.170032989C>T	(Likely) benign	2 labs	b7bebdf528
2:179474467 TTN G>A	2	179474467	179474467	G	A	TTN	c.51683C>T	NM_001267550.2	NP_001254479.2:p.(Ala17228Val)	NC_000002.11:g.179474467G>A	VUS	2 labs	b7db8275e1
17:41245931 BRCA1 C>T	17	41245931	41245931	C	T	BRCA1	c.1617G>A	NM_007294.4	NP_009225.1:p.(Thr539=)	NC_000017.10:g.41245931C>T	(Likely) benign	6 labs	b7de44ee0a
16:28877684 SH2B1 C>A	16	28877684	28877684	C	A	SH2B1	c.269C>A	NM_001145795.2	NP_001139267.1:p.(Pro90His)	NC_000016.9:g.28877684C>A	VUS	2 labs	b7f63040a8
12:112888202 PTPN11 C>T	12	112888202	112888202	C	T	PTPN11	c.218C>T	NM_002834.5	NP_002825.3:p.(Thr73Ile)	NC_000012.11:g.112888202C>T	(Likely) pathogenic	4 labs	b80ce2cef2
10:73455201 CDH23 T>C	10	73455201	73455201	T	C	CDH23	c.2316T>C	NM_022124.6	NP_071407.4:p.(Asn772=)	NC_000010.10:g.73455201T>C	(Likely) benign	2 labs	b80fea099b
2:47702191 MSH2 A>G	2	47702191	47702191	A	G	MSH2	c.1787A>G	NM_000251.3	NP_000242.1:p.(Asn596Ser)	NC_000002.11:g.47702191A>G	(Likely) benign	5 labs	b80ff32b00
19:7184651 INSR GGA>G	19	7184651	7184672	GGA	G	INSR	c.653-5_653-4del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184671_7184672del	(Likely) benign	4 labs	b823f4bb9d
11:71155153 DHCR7 A>G	11	71155153	71155153	A	G	DHCR7	c.207T>C	NM_001360.3	NP_001351.2:p.(Thr69=)	NC_000011.9:g.71155153A>G	(Likely) benign	2 labs	b82e09d035
6:36260858 PNPLA1 C>T	6	36260858	36260858	C	T	PNPLA1	c.459C>T	NM_001145717.1	NP_001139189.2:p.(Phe153=)	NC_000006.11:g.36260858C>T	(Likely) benign	2 labs	b836e29bd7
1:8030994 PARK7 G>A	1	8030994	8030994	G	A	PARK7	c.293G>A	NM_007262.5	NP_009193.2:p.(Arg98Gln)	NC_000001.10:g.8030994G>A	(Likely) benign	3 labs	b83f9e208c
9:132576387 TOR1A C>A	9	132576387	132576387	C	A	TOR1A	c.863G>T	NM_000113.3	NP_000104.1:p.(Arg288Leu)	NC_000009.11:g.132576387C>A	VUS	2 labs	b840d1a05f
16:57937856 CNGB1 G>C	16	57937856	57937856	G	C	CNGB1	c.2664C>G	NM_001297.5	NP_001288.3:p.(Ala888=)	NC_000016.9:g.57937856G>C	(Likely) benign	2 labs	b848eb1251
18:28654818 DSC2 G>A	18	28654818	28654818	G	A	DSC2	c.1719C>T	NM_004949.5	NP_004940.1:p.(Asn573=)	NC_000018.9:g.28654818G>A	(Likely) benign	5 labs	b84aae5a09
5:36985303 NIPBL A>G	5	36985303	36985303	A	G	NIPBL	c.2021A>G	NM_015384.5	NP_056199.2:p.(Asn674Ser)	NC_000005.9:g.36985303A>G	(Likely) benign	2 labs	b84cdde9c5
3:38647628 SCN5A G>A	3	38647628	38647628	G	A	SCN5A	c.1152C>T	NM_001099404.2	NP_001092874.1:p.(Ser384=)	NC_000003.11:g.38647628G>A	(Likely) benign	4 labs	b84ea0a4ac
2:11911761 LPIN1 C>T	2	11911761	11911761	C	T	LPIN1	c.699C>T	NM_001261428.3	NP_001248357.1:p.(Ile233=)	NC_000002.11:g.11911761C>T	(Likely) benign	2 labs	b85cabe9e3
5:149740732 TCOF1 C>T	5	149740732	149740732	C	T	TCOF1	c.122C>T	NM_001135243.2	NP_001128715.1:p.(Ala41Val)	NC_000005.9:g.149740732C>T	(Likely) benign	6 labs	b85de37622
1:169511555 F5 T>C	1	169511555	169511555	T	C	F5	c.2773A>G	NM_000130.5	NP_000121.2:p.(Lys925Glu)	NC_000001.10:g.169511555T>C	(Likely) benign	2 labs	b85f0deadd
11:121038810 TECTA C>T	11	121038810	121038810	C	T	TECTA	c.5634C>T	NM_005422.4	NP_005413.2:p.(Ser1878=)	NC_000011.9:g.121038810C>T	(Likely) benign	2 labs	b874d0e91b
1:78392445 NEXN C>A	1	78392445	78392445	C	A	NEXN	c.732C>A	NM_144573.4	NP_653174.3:p.(Pro244=)	NC_000001.10:g.78392445C>A	(Likely) benign	6 labs	b876306ac0
2:220427347 OBSL1 G>T	2	220427347	220427347	G	T	OBSL1	c.2730C>A	NM_015311.3	NP_056126.1:p.(Ala910=)	NC_000002.11:g.220427347G>T	(Likely) benign	2 labs	b87ac5a7d8
10:61835489 ANK3 T>C	10	61835489	61835489	T	C	ANK3	c.5150A>G	NM_020987.5	NP_066267.2:p.(Asn1717Ser)	NC_000010.10:g.61835489T>C	VUS	2 labs	b88610a82e
18:47563299 MYO5B T>C	18	47563299	47563299	T	C	MYO5B	c.376A>G	NM_001080467.3	NP_001073936.1:p.(Thr126Ala)	NC_000018.9:g.47563299T>C	(Likely) benign	2 labs	b8861ad8e1
X:32583914 DMD T>C	X	32583914	32583914	T	C	DMD	c.1897A>G	NM_004006.3	NP_003997.2:p.(Asn633Asp)	NC_000023.10:g.32583914T>C	VUS	2 labs	b887436468
X:119576455 LAMP2 G>A	X	119576455	119576455	G	A	LAMP2	c.927C>T	NM_002294.3	NP_002285.1:p.(Ser309=)	NC_000023.10:g.119576455G>A	(Likely) benign	6 labs	b88ab91f6a
12:133208999 POLE G>A	12	133208999	133208999	G	A	POLE	c.6232C>T	NM_006231.4	NP_006222.2:p.(Arg2078Trp)	NC_000012.11:g.133208999G>A	VUS	2 labs	b88e95fab6
14:51057727 ATL1 G>A	14	51057727	51057727	G	A	ATL1	c.351G>A	NM_001127713.1	NP_001121185.1:p.(Glu117=)	NC_000014.8:g.51057727G>A	(Likely) benign	3 labs	b8a0a36d42
10:88485931 LDB3 C>T	10	88485931	88485931	C	T	LDB3	c.2031C>T	NM_001171610.2	NP_001165081.1:p.(Cys677=)	NC_000010.10:g.88485931C>T	(Likely) benign	6 labs	b8b6b45dd9
22:18901004 PRODH C>T	22	18901004	18901004	C	T	PRODH	c.1562G>A	NM_016335.6	NP_057419.5:p.(Arg521Gln)	NC_000022.10:g.18901004C>T	(Likely) benign	2 labs	b8bd622d65
17:36061160 HNF1B C>G	17	36061160	36061160	C	G	HNF1B	c.1362G>C	NM_000458.4	NP_000449.1:p.(Gln454His)	NC_000017.10:g.36061160C>G	VUS	2 labs	b8cb96c581
17:10428863 MYH2 C>T	17	10428863	10428863	C	T	MYH2	c.4442G>A	NM_017534.6	NP_060004.3:p.(Arg1481His)	NC_000017.10:g.10428863C>T	VUS	2 labs	b8d74709d6
2:179544415 TTN A>G	2	179544415	179544415	A	G	TTN	c.33581-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544415A>G	(Likely) benign	2 labs	b8dfdd1ba4
11:111958581 SDHD C>T	11	111958581	111958581	C	T	SDHD	c.53C>T	NM_001276506.2	NP_001263435.1:p.(Ala18Val)	NC_000011.9:g.111958581C>T	(Likely) benign	3 labs	b8e93a27bb
6:110059510 FIG4 C>A	6	110059510	110059510	C	A	FIG4	c.647-18C>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110059510C>A	(Likely) benign	4 labs	b8ea5dd90b
2:179546181 TTN C>T	2	179546181	179546181	C	T	TTN	c.33173-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179546181C>T	(Likely) benign	4 labs	b8ec17cead
X:53674334 HUWE1 G>A	X	53674334	53674334	G	A	HUWE1	c.328C>T	NM_031407.7	NP_113584.3:p.(Arg110Trp)	NC_000023.10:g.53674334G>A	(Likely) pathogenic	2 labs	b8ecf2bae0
2:220283154 DES T>TGCGCCCGCCAGCC	2	220283154	220283167	T	TGCGCCCGCCAGCC	DES	c.-30_-18dup	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220283155_220283167dup	(Likely) benign	3 labs	b8f54a4500
10:69966602 MYPN G>T	10	69966602	69966602	G	T	MYPN	c.2853G>T	NM_001256268.2	NP_001243197.1:p.(Thr951=)	NC_000010.10:g.69966602G>T	(Likely) benign	2 labs	b902ea3b15
11:108117691 ATM G>A	11	108117691	108117691	G	A	ATM	c.902G>A	NM_000051.4	NP_000042.3:p.(Gly301Asp)	NC_000011.9:g.108117691G>A	VUS	7 labs	b903a9d855
1:36932041 CSF3R C>T	1	36932041	36932041	C	T	CSF3R	c.2428G>A	NM_000760.4	NP_000751.1:p.(Asp810Asn)	NC_000001.10:g.36932041C>T	(Likely) benign	2 labs	b90dcf511c
3:164730804 SI T>C	3	164730804	164730804	T	C	SI	c.4026A>G	NM_001041.4	NP_001032.2:p.(Thr1342=)	NC_000003.11:g.164730804T>C	(Likely) benign	2 labs	b90e4c3687
1:16262306 SPEN G>A	1	16262306	16262306	G	A	SPEN	c.9571G>A	NM_015001.3	NP_055816.2:p.(Val3191Met)	NC_000001.10:g.16262306G>A	(Likely) benign	2 labs	b91934cdfe
10:26463043 MYO3A A>T	10	26463043	26463043	A	T	MYO3A	c.3850A>T	NM_017433.5	NP_059129.3:p.(Thr1284Ser)	NC_000010.10:g.26463043A>T	(Likely) benign	2 labs	b919ea90e8
X:70328483 IL2RG TAATC>T	X	70328483	70328491	TAATC	T	IL2RG	c.816_819del	NM_000206.3	NP_000197.1:p.(Ile273SerfsTer20)	NC_000023.10:g.70328488_70328491del	(Likely) pathogenic	2 labs	b91bd79a18
4:39259190 WDR19 A>G	4	39259190	39259190	A	G	WDR19	c.3183+16A>G	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39259190A>G	(Likely) benign	3 labs	b91f998ae8
14:88452941 GALC T>C	14	88452941	88452941	T	C	GALC	c.334A>G	NM_000153.4	NP_000144.2:p.(Thr112Ala)	NC_000014.8:g.88452941T>C	VUS	4 labs	b92add5ff1
8:141461266 TRAPPC9 A>G	8	141461266	141461266	A	G	TRAPPC9	c.207T>C	NM_031466.8	NP_113654.5:p.(Gly69=)	NC_000008.10:g.141461266A>G	(Likely) benign	2 labs	b944456590
19:50726570 MYH14 G>A	19	50726570	50726570	G	A	MYH14	c.657G>A	NM_001145809.2	NP_001139281.1:p.(Ala219=)	NC_000019.9:g.50726570G>A	(Likely) benign	2 labs	b95d15fea9
3:164773057 SI G>A	3	164773057	164773057	G	A	SI	c.1437C>T	NM_001041.4	NP_001032.2:p.(Asn479=)	NC_000003.11:g.164773057G>A	(Likely) benign	2 labs	b96239c581
3:78680317 ROBO1 T>G	3	78680317	78680317	T	G	ROBO1	c.3620A>C	NM_002941.4	NP_002932.1:p.(Asp1207Ala)	NC_000003.11:g.78680317T>G	VUS	2 labs	b966ca4031
11:47357479 MYBPC3 C>T	11	47357479	47357479	C	T	MYBPC3	c.2686G>A	NM_000256.3	NP_000247.2:p.(Val896Met)	NC_000011.9:g.47357479C>T	(Likely) benign	6 labs	b973115cf1
15:59548475 MYO1E C>T	15	59548475	59548475	C	T	MYO1E	c.332+8G>A	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59548475C>T	(Likely) benign	2 labs	b985945c79
19:1220487 STK11 G>A	19	1220487	1220487	G	A	STK11	c.580G>A	NM_000455.5	NP_000446.1:p.(Asp194Asn)	NC_000019.9:g.1220487G>A	(Likely) pathogenic	2 labs	b98665bcc0
17:42961009 EFTUD2 C>T	17	42961009	42961009	C	T	EFTUD2	c.426+8G>A	NM_001258353.2	NP_001245282.1:p.?	NC_000017.10:g.42961009C>T	(Likely) benign	4 labs	b98e05fcef
13:110827574 COL4A1 T>A	13	110827574	110827574	T	A	COL4A1	c.3189A>T	NM_001845.6	NP_001836.3:p.(Arg1063=)	NC_000013.10:g.110827574T>A	(Likely) benign	4 labs	b9a1496cde
14:23885360 MYH7 G>A	14	23885360	23885360	G	A	MYH7	c.4806C>T	NM_000257.4	NP_000248.2:p.(Asp1602=)	NC_000014.8:g.23885360G>A	(Likely) benign	6 labs	b9a6010789
14:21796784 RPGRIP1 G>C	14	21796784	21796784	G	C	RPGRIP1	c.3097G>C	NM_020366.4	NP_065099.3:p.(Glu1033Gln)	NC_000014.8:g.21796784G>C	(Likely) benign	2 labs	b9aff84f1c
21:47754449 PCNT G>A	21	47754449	47754449	G	A	PCNT	c.406G>A	NM_006031.6	NP_006022.3:p.(Gly136Ser)	NC_000021.8:g.47754449G>A	(Likely) benign	2 labs	b9ba89d072
22:20779973 SCARF2 C>CG	22	20779973	20779975	C	CG	SCARF2	c.2306_2308=	NM_153334.7	NP_699165.3:p.(Pro769_Glu770=)	NC_000022.10:g.20779975dup	(Likely) benign	2 labs	b9c123a595
11:34938265 PDHX C>T	11	34938265	34938265	C	T	PDHX	c.63C>T	NM_003477.3	NP_003468.2:p.(Pro21=)	NC_000011.9:g.34938265C>T	(Likely) benign	2 labs	b9dff3da55
8:144899292 PUF60 TAGG>T	8	144899292	144899299	TAGG	T	PUF60	c.1276_1278del	NM_001362896.2	NP_001349825.1:p.(Pro426del)	NC_000008.10:g.144899297_144899299del	(Likely) benign	2 labs	b9e80d6939
12:88500878 CEP290 A>AAAAAC	12	88500878	88500897	A	AAAAAC	CEP290	c.2484-8_2484-4dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88500893_88500897dup	(Likely) benign	4 labs	b9e930f642
12:112888199 PTPN11 C>T	12	112888199	112888199	C	T	PTPN11	c.215C>T	NM_002834.5	NP_002825.3:p.(Ala72Val)	NC_000012.11:g.112888199C>T	(Likely) pathogenic	2 labs	b9e9dfe5a0
1:17354344 SDHB T>C	1	17354344	17354344	T	C	SDHB	c.440A>G	NM_003000.3	NP_002991.2:p.(Tyr147Cys)	NC_000001.10:g.17354344T>C	VUS	2 labs	ba04262867
3:47061329 SETD2 G>A	3	47061329	47061329	G	A	SETD2	c.7352C>T	NM_014159.7	NP_054878.5:p.(Ala2451Val)	NC_000003.11:g.47061329G>A	VUS	2 labs	ba065ee9f4
2:179456773 TTN G>A	2	179456773	179456773	G	A	TTN	c.59858C>T	NM_001267550.2	NP_001254479.2:p.(Ala19953Val)	NC_000002.11:g.179456773G>A	VUS	3 labs	ba074d994a
1:237843828 RYR2 C>T	1	237843828	237843828	C	T	RYR2	c.8968C>T	NM_001035.3	NP_001026.2:p.(Leu2990Phe)	NC_000001.10:g.237843828C>T	VUS	2 labs	ba0f3cf965
17:10542765 MYH3 A>G	17	10542765	10542765	A	G	MYH3	c.2952T>C	NM_002470.4	NP_002461.2:p.(Ser984=)	NC_000017.10:g.10542765A>G	(Likely) benign	3 labs	ba28d82b35
1:225592358 LBR G>A	1	225592358	225592358	G	A	LBR	c.1534C>T	NM_002296.4	NP_002287.2:p.(Arg512Trp)	NC_000001.10:g.225592358G>A	(Likely) pathogenic	2 labs	ba346582de
5:1213689 SLC6A19 G>A	5	1213689	1213689	G	A	SLC6A19	c.774+1G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1213689G>A	(Likely) pathogenic	2 labs	ba38705dd0
14:23869918 MYH6 G>A	14	23869918	23869918	G	A	MYH6	c.1410C>T	NM_002471.4	NP_002462.2:p.(Asp470=)	NC_000014.8:g.23869918G>A	(Likely) benign	4 labs	ba43030620
6:152683442 SYNE1 G>A	6	152683442	152683442	G	A	SYNE1	c.10162C>T	NM_182961.4	NP_892006.3:p.(Leu3388Phe)	NC_000006.11:g.152683442G>A	VUS	2 labs	ba4740414d
1:197072420 ASPM T>C	1	197072420	197072420	T	C	ASPM	c.5961A>G	NM_018136.5	NP_060606.3:p.(Gln1987=)	NC_000001.10:g.197072420T>C	(Likely) benign	3 labs	ba4b473d43
9:137619195 COL5A1 C>T	9	137619195	137619195	C	T	COL5A1	c.738C>T	NM_000093.5	NP_000084.3:p.(Thr246=)	NC_000009.11:g.137619195C>T	(Likely) benign	3 labs	ba4d6cf948
15:90196008 KIF7 C>T	15	90196008	90196008	C	T	KIF7	c.154G>A	NM_198525.3	NP_940927.2:p.(Asp52Asn)	NC_000015.9:g.90196008C>T	(Likely) benign	5 labs	ba4fb4345f
9:137672012 COL5A1 C>T	9	137672012	137672012	C	T	COL5A1	c.2430+20C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137672012C>T	(Likely) benign	2 labs	ba5c0df2ca
2:179575471 TTN G>A	2	179575471	179575471	G	A	TTN	c.28353C>T	NM_001267550.2	NP_001254479.2:p.(Ser9451=)	NC_000002.11:g.179575471G>A	(Likely) benign	2 labs	ba78be1339
2:179449700 TTN A>G	2	179449700	179449700	A	G	TTN	c.64673-5T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179449700A>G	(Likely) benign	5 labs	ba9b79d6f4
2:179413816 TTN A>G	2	179413816	179413816	A	G	TTN	c.92537T>C	NM_001267550.2	NP_001254479.2:p.(Val30846Ala)	NC_000002.11:g.179413816A>G	(Likely) benign	4 labs	baa9271523
2:179462347 TTN C>T	2	179462347	179462347	C	T	TTN	c.57462G>A	NM_001267550.2	NP_001254479.2:p.(Gln19154=)	NC_000002.11:g.179462347C>T	(Likely) benign	4 labs	baaeca07d0
X:77254154 ATP7A A>G	X	77254154	77254154	A	G	ATP7A	c.1516A>G	NM_000052.7	NP_000043.4:p.(Ile506Val)	NC_000023.10:g.77254154A>G	(Likely) benign	3 labs	bab6cbde4b
4:110667485 CFI T>C	4	110667485	110667485	T	C	CFI	c.1346A>G	NM_001318057.2	NP_001304986.2:p.(Lys449Arg)	NC_000004.11:g.110667485T>C	(Likely) benign	4 labs	babfe4a3bb
3:57994496 FLNB C>T	3	57994496	57994496	C	T	FLNB	c.205C>T	NM_001457.4	NP_001448.2:p.(Arg69Trp)	NC_000003.11:g.57994496C>T	VUS	2 labs	bac1610253
16:89574945 SPG7 G>A	16	89574945	89574945	G	A	SPG7	c.120G>A	NM_003119.4	NP_003110.1:p.(Gly40=)	NC_000016.9:g.89574945G>A	(Likely) benign	2 labs	bacda881bd
3:9785426 BRPF1 C>T	3	9785426	9785426	C	T	BRPF1	c.2476C>T	NM_001003694.2	NP_001003694.1:p.(Arg826Trp)	NC_000003.11:g.9785426C>T	VUS	2 labs	bad5d66a37
3:15686534 BTD C>T	3	15686534	15686534	C	T	BTD	c.1111C>T	NM_001281723.3	NP_001268652.2:p.(Pro371Ser)	NC_000003.11:g.15686534C>T	(Likely) benign	3 labs	bad7461baa
11:108165756 ATM C>T	11	108165756	108165756	C	T	ATM	c.4879C>T	NM_000051.4	NP_000042.3:p.(Gln1627Ter)	NC_000011.9:g.108165756C>T	(Likely) pathogenic	2 labs	bae2f9bb17
19:41930396 BCKDHA A>G	19	41930396	41930396	A	G	BCKDHA	c.1221A>G	NM_000709.4	NP_000700.1:p.(Leu407=)	NC_000019.9:g.41930396A>G	(Likely) benign	2 labs	bae474c675
18:25583116 CDH2 C>T	18	25583116	25583116	C	T	CDH2	c.865G>A	NM_001792.5	NP_001783.2:p.(Val289Ile)	NC_000018.9:g.25583116C>T	(Likely) benign	2 labs	baf8c72550
4:106359159 PPA2 G>A	4	106359159	106359159	G	A	PPA2	c.476C>T	NM_176869.3	NP_789845.1:p.(Thr159Met)	NC_000004.11:g.106359159G>A	(Likely) pathogenic	2 labs	bb02050139
16:89350548 ANKRD11 TTTTC>T	16	89350548	89350555	TTTTC	T	ANKRD11	c.2398_2401del	NM_013275.6	NP_037407.4:p.(Glu800AsnfsTer62)	NC_000016.9:g.89350552_89350555del	(Likely) pathogenic	2 labs	bb06f13197
7:94040393 COL1A2 G>A	7	94040393	94040393	G	A	COL1A2	c.1277G>A	NM_000089.4	NP_000080.2:p.(Ser426Asn)	NC_000007.13:g.94040393G>A	VUS	3 labs	bb0caf4370
X:149818373 MTM1 A>G	X	149818373	149818373	A	G	MTM1	c.1052A>G	NM_000252.3	NP_000243.1:p.(Lys351Arg)	NC_000023.10:g.149818373A>G	(Likely) benign	2 labs	bb0cb487b9
14:65569011 MAX C>G	14	65569011	65569011	C	G	MAX	c.36+11G>C	NM_145113.3	NP_660088.1:p.?	NC_000014.8:g.65569011C>G	(Likely) benign	2 labs	bb11741a76
2:179623903 TTN C>T	2	179623903	179623903	C	T	TTN	c.10115-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179623903C>T	(Likely) benign	6 labs	bb15b6b645
17:10541680 MYH3 G>A	17	10541680	10541680	G	A	MYH3	c.3409C>T	NM_002470.4	NP_002461.2:p.(Arg1137Cys)	NC_000017.10:g.10541680G>A	(Likely) benign	3 labs	bb1d369318
19:4099187 MAP2K2 T>C	19	4099187	4099187	T	C	MAP2K2	c.919+12A>G	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4099187T>C	(Likely) benign	3 labs	bb2fe288ae
1:66036501 LEPR G>T	1	66036501	66036501	G	T	LEPR	c.370+16G>T	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66036501G>T	(Likely) benign	3 labs	bb320fa2a4
14:91779905 CCDC88C T>C	14	91779905	91779905	T	C	CCDC88C	c.2255A>G	NM_001080414.4	NP_001073883.2:p.(Lys752Arg)	NC_000014.8:g.91779905T>C	VUS	2 labs	bb32cce85c
1:236908011 ACTN2 C>T	1	236908011	236908011	C	T	ACTN2	c.1341C>T	NM_001103.4	NP_001094.1:p.(Phe447=)	NC_000001.10:g.236908011C>T	(Likely) benign	5 labs	bb3378c92b
5:156899869 NIPAL4 T>C	5	156899869	156899869	T	C	NIPAL4	c.1116T>C	NM_001099287.2	NP_001092757.2:p.(Val372=)	NC_000005.9:g.156899869T>C	(Likely) benign	2 labs	bb462d5ffc
8:30924557 WRN C>T	8	30924557	30924557	C	T	WRN	c.513C>T	NM_000553.6	NP_000544.2:p.(Cys171=)	NC_000008.10:g.30924557C>T	(Likely) benign	2 labs	bb4e6a6951
16:89576879 SPG7 GT>G	16	89576879	89576894	GT	G	SPG7	c.184-4del	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89576894del	(Likely) benign	2 labs	bb53cf088a
16:89616987 SPG7 G>C	16	89616987	89616987	G	C	SPG7	c.1749G>C	NM_003119.4	NP_003110.1:p.(Trp583Cys)	NC_000016.9:g.89616987G>C	(Likely) pathogenic	2 labs	bb5740049c
6:157100005 ARID1B CGGA>C	6	157100005	157100019	CGGA	C	ARID1B	c.1203_1205del	NM_001371656.1	NP_001358585.1:p.(Gly402del)	NC_000006.11:g.157100017_157100019del	(Likely) benign	2 labs	bb574c0cde
15:85384084 ALPK3 C>T	15	85384084	85384084	C	T	ALPK3	c.1574C>T	NM_020778.5	NP_065829.4:p.(Pro525Leu)	NC_000015.9:g.85384084C>T	VUS	2 labs	bb5d007faa
5:256548 SDHA T>C	5	256548	256548	T	C	SDHA	c.*13T>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.256548T>C	(Likely) benign	2 labs	bb6171c6c7
1:197446956 CRB1 C>T	1	197446956	197446956	C	T	CRB1	c.4168C>T	NM_201253.3	NP_957705.1:p.(Arg1390Ter)	NC_000001.10:g.197446956C>T	(Likely) pathogenic	2 labs	bb76a64531
19:38956803 RYR1 G>A	19	38956803	38956803	G	A	RYR1	c.2943G>A	NM_000540.3	NP_000531.2:p.(Thr981=)	NC_000019.9:g.38956803G>A	(Likely) benign	3 labs	bb77451e40
12:110252617 TRPV4 G>A	12	110252617	110252617	G	A	TRPV4	c.-16C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110252617G>A	VUS	2 labs	bb7d174929
1:197030201 F13B T>C	1	197030201	197030201	T	C	F13B	c.456A>G	NM_001994.3	NP_001985.2:p.(Thr152=)	NC_000001.10:g.197030201T>C	(Likely) benign	2 labs	bb7fc75b5c
19:1398750 GAMT C>T	19	1398750	1398750	C	T	GAMT	c.735G>A	NM_138924.3	NP_620279.1:p.(Ala245=)	NC_000019.9:g.1398750C>T	(Likely) benign	2 labs	bba8d66827
17:39914747 JUP A>G	17	39914747	39914747	A	G	JUP	c.1677T>C	NM_002230.4	NP_002221.1:p.(Ile559=)	NC_000017.10:g.39914747A>G	(Likely) benign	2 labs	bb95332bec
10:95395364 PDE6C C>G	10	95395364	95395364	C	G	PDE6C	c.1380C>G	NM_006204.4	NP_006195.3:p.(Thr460=)	NC_000010.10:g.95395364C>G	(Likely) benign	2 labs	bb960d22f8
7:83643681 SEMA3A A>T	7	83643681	83643681	A	T	SEMA3A	c.668-14T>A	NM_006080.3	NP_006071.1:p.?	NC_000007.13:g.83643681A>T	(Likely) benign	2 labs	bb9bed38a5
21:47401760 COL6A1 C>G	21	47401760	47401760	C	G	COL6A1	c.-5C>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47401760C>G	(Likely) benign	3 labs	bb9e78dcaa
2:44539792 SLC3A1 T>C	2	44539792	44539792	T	C	SLC3A1	c.1400T>C	NM_000341.4	NP_000332.2:p.(Met467Thr)	NC_000002.11:g.44539792T>C	(Likely) pathogenic	4 labs	bba106016a
22:29083913 CHEK2 C>T	22	29083913	29083913	C	T	CHEK2	c.1604G>A	NM_007194.4	NP_009125.1:p.(Arg535His)	NC_000022.10:g.29083913C>T	(Likely) benign	2 labs	bba908f52a
2:179429789 TTN AT>A	2	179429789	179429790	AT	A	TTN	c.81069del	NM_001267550.2	NP_001254479.2:p.(Ser27024GlnfsTer11)	NC_000002.11:g.179429790del	(Likely) pathogenic	2 labs	bbb59bd298
1:237881784 RYR2 G>A	1	237881784	237881784	G	A	RYR2	c.10517G>A	NM_001035.3	NP_001026.2:p.(Arg3506Gln)	NC_000001.10:g.237881784G>A	VUS	3 labs	bbba413a23
2:179582392 TTN A>G	2	179582392	179582392	A	G	TTN	c.24258T>C	NM_001256850.1	NP_001243779.1:p.(Asp8086=)	NC_000002.11:g.179582392A>G	(Likely) benign	2 labs	bbe0c37974
2:44055163 ABCG5 C>T	2	44055163	44055163	C	T	ABCG5	c.593G>A	NM_022436.3	NP_071881.1:p.(Arg198Gln)	NC_000002.11:g.44055163C>T	VUS	2 labs	bbfb632ab2
2:48027485 MSH6 TTAA>T	2	48027485	48027489	TTAA	T	MSH6	c.2365_2367del	NM_000179.3	NP_000170.1:p.(Asn789del)	NC_000002.11:g.48027487_48027489del	(Likely) pathogenic	2 labs	bc0368c94f
1:17312586 ATP13A2 G>A	1	17312586	17312586	G	A	ATP13A2	c.3371C>T	NM_001141974.3	NP_001135446.1:p.(Pro1124Leu)	NC_000001.10:g.17312586G>A	(Likely) benign	3 labs	bc10801d25
4:187004074 TLR3 C>T	4	187004074	187004074	C	T	TLR3	c.1234C>T	NM_003265.3	NP_003256.1:p.(Leu412Phe)	NC_000004.11:g.187004074C>T	(Likely) benign	3 labs	bc172ca54c
19:7620116 PNPLA6 A>G	19	7620116	7620116	A	G	PNPLA6	c.2848-19A>G	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7620116A>G	(Likely) benign	2 labs	bc1bb686bd
10:88452333 LDB3 G>A	10	88452333	88452333	G	A	LDB3	c.755+5G>A	NM_001080116.1	NP_001073585.1:p.?	NC_000010.10:g.88452333G>A	(Likely) benign	2 labs	bc27ad5bbd
2:166895913 SCN1A CT>C	2	166895913	166895930	CT	C	SCN1A	c.2589+19del	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166895930del	(Likely) benign	2 labs	bc2868321b
13:52532434 ATP7B A>C	13	52532434	52532434	A	C	ATP7B	c.2355+13T>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52532434A>C	(Likely) benign	3 labs	bc296d6c27
4:122749436 BBS7 G>T	4	122749436	122749436	G	T	BBS7	c.1891-12C>A	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122749436G>T	(Likely) benign	3 labs	bc2bb68e91
6:99283527 POU3F2 T>A	6	99283527	99283527	T	A	POU3F2	c.778T>A	NM_005604.4	NP_005595.2:p.(Ser260Thr)	NC_000006.11:g.99283527T>A	VUS	2 labs	bc3066c8e1
16:77389956 ADAMTS18 A>G	16	77389956	77389956	A	G	ADAMTS18	c.1341T>C	NM_199355.4	NP_955387.1:p.(Asp447=)	NC_000016.9:g.77389956A>G	(Likely) benign	2 labs	bc378eb167
19:11222182 LDLR T>C	19	11222182	11222182	T	C	LDLR	c.1061-8T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222182T>C	(Likely) benign	3 labs	bc521dd89f
15:44949427 SPG11 CAT>C	15	44949427	44949429	CAT	C	SPG11	c.733_734del	NM_025137.4	NP_079413.3:p.(Met245ValfsTer2)	NC_000015.9:g.44949428_44949429del	(Likely) pathogenic	2 labs	bc6ed6ca09
2:215593605 BARD1 T>A	2	215593605	215593605	T	A	BARD1	c.2129A>T	NM_000465.4	NP_000456.2:p.(Asp710Val)	NC_000002.11:g.215593605T>A	VUS	3 labs	bc80d1a890
X:32472763 DMD C>CT	X	32472763	32472776	C	CT	DMD	c.3603+15dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32472776dup	(Likely) benign	5 labs	bc863be554
7:117199666 CFTR AAT>A	7	117199666	117199671	AAT	A	CFTR	c.1545_1546del	NM_000492.4	NP_000483.3:p.(Tyr515Ter)	NC_000007.13:g.117199670_117199671del	(Likely) pathogenic	3 labs	bc8afd95f9
1:155206036 GBA1 C>T	1	155206036	155206036	C	T	GBA1	c.1224G>A	NM_001005741.3	NP_001005741.1:p.(Thr408=)	NC_000001.10:g.155206036C>T	VUS	2 labs	bc8c59ab6e
16:67974002 LCAT G>T	16	67974002	67974002	G	T	LCAT	c.1128C>A	NM_000229.2	NP_000220.1:p.(Ser376Arg)	NC_000016.9:g.67974002G>T	VUS	2 labs	bc90191c72
2:179465706 TTN A>T	2	179465706	179465706	A	T	TTN	c.48221T>A	NM_133378.4	NP_596869.4:p.(Leu16074Gln)	NC_000002.11:g.179465706A>T	(Likely) benign	6 labs	bc97852227
17:7578211 TP53 C>T	17	7578211	7578211	C	T	TP53	c.638G>A	NM_000546.6	NP_000537.3:p.(Arg213Gln)	NC_000017.10:g.7578211C>T	(Likely) pathogenic	3 labs	bc9a8f013d
11:112104152 PTS T>C	11	112104152	112104152	T	C	PTS	c.315-3T>C	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112104152T>C	(Likely) benign	4 labs	bca6c9298c
4:5809925 EVC C>T	4	5809925	5809925	C	T	EVC	c.2562-3C>T	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5809925C>T	(Likely) benign	2 labs	bcb12dd694
3:48627652 COL7A1 G>A	3	48627652	48627652	G	A	COL7A1	c.2044C>T	NM_000094.4	NP_000085.1:p.(Arg682Ter)	NC_000003.11:g.48627652G>A	(Likely) pathogenic	2 labs	bccb3b946a
10:18439808 CACNB2 T>TTTTG	10	18439808	18439810	T	TTTTG	CACNB2	c.37-3_37-2insTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTGT	(Likely) benign	2 labs	bccc4d3a30
2:179641485 TTN T>C	2	179641485	179641485	T	C	TTN	c.5106A>G	NM_001267550.2	NP_001254479.2:p.(Lys1702=)	NC_000002.11:g.179641485T>C	(Likely) benign	2 labs	bccd454b58
3:184044433 EIF4G1 C>T	3	184044433	184044433	C	T	EIF4G1	c.3328+16C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184044433C>T	(Likely) benign	3 labs	bccdd1499f
2:179477169 TTN G>A	2	179477169	179477169	G	A	TTN	c.50083C>T	NM_001267550.2	NP_001254479.2:p.(Arg16695Ter)	NC_000002.11:g.179477169G>A	(Likely) pathogenic	2 labs	bcce6c252e
4:1808988 FGFR3 G>C	4	1808988	1808988	G	C	FGFR3	c.2420G>C	NM_000142.5	NP_000133.1:p.(Ter807SerextTer101)	NC_000004.11:g.1808988G>C	(Likely) pathogenic	2 labs	bcd02b50c8
6:112471831 LAMA4 T>A	6	112471831	112471831	T	A	LAMA4	c.2057-2A>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112471831T>A	VUS	2 labs	bce106d12f
2:69659126 NFU1 A>T	2	69659126	69659126	A	T	NFU1	c.2T>A	NM_015700.4	NP_056515.2:p.(Met1?)	NC_000002.11:g.69659126A>T	(Likely) benign	2 labs	bce4faa01b
10:112544528 RBM20 CTT>C	10	112544528	112544531	CTT	C	RBM20	c.1430-20_1430-19del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544530_112544531del	(Likely) benign	5 labs	bce70d7598
18:12359920 AFG3L2 G>A	18	12359920	12359920	G	A	AFG3L2	c.752+6C>T	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12359920G>A	(Likely) benign	4 labs	bcfb2d2628
3:123046510 ADCY5 C>G	3	123046510	123046510	C	G	ADCY5	c.1902G>C	NM_183357.3	NP_899200.1:p.(Glu634Asp)	NC_000003.11:g.123046510C>G	(Likely) benign	4 labs	bcfd8522d5
6:152708310 SYNE1 G>A	6	152708310	152708310	G	A	SYNE1	c.8384C>T	NM_182961.4	NP_892006.3:p.(Ala2795Val)	NC_000006.11:g.152708310G>A	(Likely) benign	3 labs	bd05ce39d6
11:118352585 KMT2A C>T	11	118352585	118352585	C	T	KMT2A	c.3790C>T	NM_001197104.2	NP_001184033.1:p.(Arg1264Ter)	NC_000011.9:g.118352585C>T	(Likely) pathogenic	2 labs	bd152dcd33
19:16595982 CALR3 T>C	19	16595982	16595982	T	C	CALR3	c.484A>G	NM_145046.5	NP_659483.2:p.(Arg162Gly)	NC_000019.9:g.16595982T>C	VUS	2 labs	bd223ece90
18:21116700 NPC1 A>G	18	21116700	21116700	A	G	NPC1	c.3182T>C	NM_000271.5	NP_000262.2:p.(Ile1061Thr)	NC_000018.9:g.21116700A>G	(Likely) pathogenic	3 labs	bd24b31399
7:92132493 PEX1 T>C	7	92132493	92132493	T	C	PEX1	c.2088A>G	NM_000466.3	NP_000457.1:p.(Ile696Met)	NC_000007.13:g.92132493T>C	(Likely) benign	3 labs	bd380611d1
2:179537372 TTN G>A	2	179537372	179537372	G	A	TTN	c.34845C>T	NM_001267550.2	NP_001254479.2:p.(Pro11615=)	NC_000002.11:g.179537372G>A	(Likely) benign	4 labs	bd42dc1e87
2:170010985 LRP2 T>C	2	170010985	170010985	T	C	LRP2	c.12280A>G	NM_004525.3	NP_004516.2:p.(Lys4094Glu)	NC_000002.11:g.170010985T>C	(Likely) benign	2 labs	bd51ace0e2
18:21124914 NPC1 C>G	18	21124914	21124914	C	G	NPC1	c.1947+10G>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124914C>G	(Likely) benign	4 labs	bd58caff6b
17:76134828 TMC8 C>A	17	76134828	76134828	C	A	TMC8	c.1823+15C>A	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76134828C>A	(Likely) benign	2 labs	bd658ee02b
2:48030838 MSH6 A>T	2	48030838	48030838	A	T	MSH6	c.3438+14A>T	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030838A>T	(Likely) benign	4 labs	bd7aa1b998
22:50657010 TUBGCP6 C>G	22	50657010	50657010	C	G	TUBGCP6	c.4861G>C	NM_020461.4	NP_065194.3:p.(Val1621Leu)	NC_000022.10:g.50657010C>G	(Likely) benign	2 labs	bd7d7c4961
1:17312596 ATP13A2 T>A	1	17312596	17312596	T	A	ATP13A2	c.3361A>T	NM_001141974.3	NP_001135446.1:p.(Thr1121Ser)	NC_000001.10:g.17312596T>A	(Likely) benign	3 labs	bd862711c2
17:78079597 GAA A>G	17	78079597	78079597	A	G	GAA	c.596A>G	NM_000152.5	NP_000143.2:p.(His199Arg)	NC_000017.10:g.78079597A>G	(Likely) benign	3 labs	bd93e393db
15:89872249 POLG C>T	15	89872249	89872249	C	T	POLG	c.948G>A	NM_002693.3	NP_002684.1:p.(Lys316=)	NC_000015.9:g.89872249C>T	(Likely) benign	4 labs	bd980ee935
2:179480482 TTN C>T	2	179480482	179480482	C	T	TTN	c.48346G>A	NM_001267550.2	NP_001254479.2:p.(Val16116Ile)	NC_000002.11:g.179480482C>T	VUS	2 labs	bda4633862
2:21230564 APOB C>T	2	21230564	21230564	C	T	APOB	c.9176G>A	NM_000384.3	NP_000375.3:p.(Arg3059His)	NC_000002.11:g.21230564C>T	VUS	2 labs	bdb453e9e1
7:83590852 SEMA3A T>C	7	83590852	83590852	T	C	SEMA3A	c.2151A>G	NM_006080.3	NP_006071.1:p.(Thr717=)	NC_000007.13:g.83590852T>C	(Likely) benign	2 labs	bdc284e6b5
17:41245237 BRCA1 A>G	17	41245237	41245237	A	G	BRCA1	c.2311T>C	NM_007294.4	NP_009225.1:p.(Leu771=)	NC_000017.10:g.41245237A>G	(Likely) benign	6 labs	bdc32a0fa4
8:42296969 SLC20A2 G>A	8	42296969	42296969	G	A	SLC20A2	c.933C>T	NM_001257180.2	NP_001244109.1:p.(Tyr311=)	NC_000008.10:g.42296969G>A	(Likely) benign	3 labs	bdc6252ada
1:237798238 RYR2 G>T	1	237798238	237798238	G	T	RYR2	c.6738G>T	NM_001035.3	NP_001026.2:p.(Ser2246=)	NC_000001.10:g.237798238G>T	(Likely) benign	2 labs	bdcfc6e918
11:117261488 CEP164 C>G	11	117261488	117261488	C	G	CEP164	c.1935-5C>G	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117261488C>G	(Likely) benign	2 labs	bdd56448fd
9:138676328 KCNT1 GCTCCCTCCCTCCCTCC>G	9	138676328	138676374	GCTCCCTCCCTCCCTCC	G	KCNT1	c.2944-22_2944-7del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138676359_138676374del	(Likely) benign	2 labs	bdd5b8add0
X:153001835 ABCD1 G>A	X	153001835	153001835	G	A	ABCD1	c.1261G>A	NM_000033.4	NP_000024.2:p.(Glu421Lys)	NC_000023.10:g.153001835G>A	VUS	3 labs	bdd5d88a04
2:47693952 MSH2 G>T	2	47693952	47693952	G	T	MSH2	c.1661+5G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693952G>T	(Likely) pathogenic	2 labs	bde2f90ec5
19:1467214 APC2 GCGGGGGCGC>G	19	1467214	1467235	GCGGGGGCGC	G	APC2	c.3927_3935del	NM_005883.3	NP_005874.1:p.(Gly1310_Gly1312del)	NC_000019.9:g.1467227_1467235del	VUS	2 labs	bde6e86286
18:29171879 TTR G>A	18	29171879	29171879	G	A	TTR	c.14G>A	NM_000371.4	NP_000362.1:p.(Arg5His)	NC_000018.9:g.29171879G>A	(Likely) benign	5 labs	bdf51046ee
2:29416366 ALK G>C	2	29416366	29416366	G	C	ALK	c.4587C>G	NM_004304.5	NP_004295.2:p.(Asp1529Glu)	NC_000002.11:g.29416366G>C	(Likely) benign	5 labs	be02571e28
18:29101206 DSG2 C>T	18	29101206	29101206	C	T	DSG2	c.523C>T	NM_001943.5	NP_001934.2:p.(His175Tyr)	NC_000018.9:g.29101206C>T	VUS	2 labs	be099620c4
1:201337340 TNNT2 G>A	1	201337340	201337340	G	A	TNNT2	c.83C>T	NM_001001430.3	NP_001001430.1:p.(Ala28Val)	NC_000001.10:g.201337340G>A	(Likely) benign	3 labs	be1911cd56
6:86199233 NT5E A>G	6	86199233	86199233	A	G	NT5E	c.1126A>G	NM_002526.4	NP_002517.1:p.(Thr376Ala)	NC_000006.11:g.86199233A>G	(Likely) benign	2 labs	be1cea9e31
2:179457524 TTN T>C	2	179457524	179457524	T	C	TTN	c.59322A>G	NM_001267550.2	NP_001254479.2:p.(Pro19774=)	NC_000002.11:g.179457524T>C	(Likely) benign	5 labs	be1f9b38ed
11:108150304 ATM A>T	11	108150304	108150304	A	T	ATM	c.3371A>T	NM_000051.4	NP_000042.3:p.(Tyr1124Phe)	NC_000011.9:g.108150304A>T	VUS	4 labs	be27c4fab9
X:44910959 KDM6A A>T	X	44910959	44910959	A	T	KDM6A	c.660A>T	NM_021140.3	NP_066963.2:p.(Lys220Asn)	NC_000023.10:g.44910959A>T	VUS	2 labs	be29c80d58
3:184075461 CLCN2 A>G	3	184075461	184075461	A	G	CLCN2	c.719T>C	NM_004366.6	NP_004357.3:p.(Leu240Pro)	NC_000003.11:g.184075461A>G	VUS	2 labs	be2b683560
4:186336934 UFSP2 G>C	4	186336934	186336934	G	C	UFSP2	c.421C>G	NM_018359.5	NP_060829.2:p.(His141Asp)	NC_000004.11:g.186336934G>C	VUS	2 labs	be2d561124
7:128488118 FLNC C>G	7	128488118	128488118	C	G	FLNC	c.4576C>G	NM_001458.5	NP_001449.3:p.(Arg1526Gly)	NC_000007.13:g.128488118C>G	VUS	3 labs	be30b7a455
18:50985814 DCC G>A	18	50985814	50985814	G	A	DCC	c.3605G>A	NM_005215.4	NP_005206.2:p.(Ser1202Asn)	NC_000018.9:g.50985814G>A	VUS	2 labs	be3a1da843
2:179595372 TTN T>C	2	179595372	179595372	T	C	TTN	c.17888A>G	NM_001267550.2	NP_001254479.2:p.(Glu5963Gly)	NC_000002.11:g.179595372T>C	(Likely) benign	5 labs	be4460780d
7:116436097 MET G>A	7	116436097	116436097	G	A	MET	c.4146G>A	NM_001127500.3	NP_001120972.1:p.(Pro1382=)	NC_000007.13:g.116436097G>A	(Likely) benign	3 labs	be4c986236
2:73829372 ALMS1 C>T	2	73829372	73829372	C	T	ALMS1	c.12178C>T	NM_015120.4	NP_055935.4:p.(Leu4060=)	NC_000002.11:g.73829372C>T	(Likely) benign	3 labs	be63eec65c
6:7572262 DSP A>G	6	7572262	7572262	A	G	DSP	c.2091A>G	NM_004415.4	NP_004406.2:p.(Gly697=)	NC_000006.11:g.7572262A>G	(Likely) benign	3 labs	be85226093
X:31241234 DMD G>A	X	31241234	31241234	G	A	DMD	c.8922C>T	NM_004010.3	NP_004001.1:p.(Asp2974=)	NC_000023.10:g.31241234G>A	(Likely) benign	3 labs	be85ad8dc2
17:60655850 TLK2 A>T	17	60655850	60655850	A	T	TLK2	c.1201A>T	NM_006852.6	NP_006843.2:p.(Ile401Phe)	NC_000017.10:g.60655850A>T	VUS	3 labs	be8a03c6e2
16:88788296 PIEZO1 C>T	16	88788296	88788296	C	T	PIEZO1	c.5134G>A	NM_001142864.4	NP_001136336.2:p.(Val1712Met)	NC_000016.9:g.88788296C>T	VUS	2 labs	be8c87fbae
16:23641727 PALB2 A>C	16	23641727	23641727	A	C	PALB2	c.1748T>G	NM_024675.4	NP_078951.2:p.(Leu583Trp)	NC_000016.9:g.23641727A>C	VUS	2 labs	be9453f76a
11:47354846 MYBPC3 C>T	11	47354846	47354846	C	T	MYBPC3	c.3229G>A	NM_000256.3	NP_000247.2:p.(Ala1077Thr)	NC_000011.9:g.47354846C>T	(Likely) benign	3 labs	be954150ec
6:152674524 SYNE1 T>C	6	152674524	152674524	T	C	SYNE1	c.11127A>G	NM_182961.4	NP_892006.3:p.(Glu3709=)	NC_000006.11:g.152674524T>C	(Likely) benign	4 labs	be968d50c4
13:110857895 COL4A1 A>G	13	110857895	110857895	A	G	COL4A1	c.859-10T>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110857895A>G	(Likely) benign	4 labs	be9ae24e0f
1:237893674 RYR2 C>T	1	237893674	237893674	C	T	RYR2	c.10935+18C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237893674C>T	(Likely) benign	2 labs	be9fbfe92b
3:37042515 MLH1 A>G	3	37042515	37042515	A	G	MLH1	c.277A>G	NM_000249.4	NP_000240.1:p.(Ser93Gly)	NC_000003.11:g.37042515A>G	VUS	2 labs	bea0ba0a1a
15:89865073 POLG T>C	15	89865073	89865073	T	C	POLG	c.2492A>G	NM_002693.3	NP_002684.1:p.(Tyr831Cys)	NC_000015.9:g.89865073T>C	(Likely) benign	5 labs	beae52a569
20:5283039 PROKR2 G>A	20	5283039	5283039	G	A	PROKR2	c.802C>T	NM_144773.4	NP_658986.1:p.(Arg268Cys)	NC_000020.10:g.5283039G>A	(Likely) benign	2 labs	beb92f0d2b
10:69895962 MYPN C>T	10	69895962	69895962	C	T	MYPN	c.-166-5C>T	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69895962C>T	(Likely) benign	2 labs	bec86b0c9b
2:220290674 DES G>A	2	220290674	220290674	G	A	DES	c.1375G>A	NM_001927.4	NP_001918.3:p.(Val459Ile)	NC_000002.11:g.220290674G>A	(Likely) benign	6 labs	bece9dbe9c
7:6031649 PMS2 G>A	7	6031649	6031649	G	A	PMS2	c.943C>T	NM_000535.7	NP_000526.2:p.(Arg315Ter)	NC_000007.13:g.6031649G>A	(Likely) pathogenic	2 labs	becf54fcc2
17:56774097 RAD51C G>A	17	56774097	56774097	G	A	RAD51C	c.448G>A	NM_058216.3	NP_478123.1:p.(Gly150Arg)	NC_000017.10:g.56774097G>A	VUS	2 labs	bed0a880f3
15:45654341 GATM C>T	15	45654341	45654341	C	T	GATM	c.1238G>A	NM_001482.3	NP_001473.1:p.(Arg413Gln)	NC_000015.9:g.45654341C>T	VUS	2 labs	beda41e177
6:42946408 PEX6 G>A	6	42946408	42946408	G	A	PEX6	c.481C>T	NM_000287.4	NP_000278.3:p.(Arg161Cys)	NC_000006.11:g.42946408G>A	VUS	2 labs	bedd7c511b
9:129377855 LMX1B G>C	9	129377855	129377855	G	C	LMX1B	c.326+7G>C	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129377855G>C	(Likely) benign	2 labs	bee1a53b7f
2:179426177 TTN G>A	2	179426177	179426177	G	A	TTN	c.79759C>T	NM_001256850.1	NP_001243779.1:p.(Arg26587Cys)	NC_000002.11:g.179426177G>A	VUS	2 labs	bee9f4daef
9:32500832 RIGI C>T	9	32500832	32500832	C	T	RIGI	c.212G>A	NM_014314.4	NP_055129.2:p.(Arg71His)	NC_000009.11:g.32500832C>T	(Likely) benign	2 labs	bef19eee0e
5:112111374 APC G>A	5	112111374	112111374	G	A	APC	c.471G>A	NM_000038.6	NP_000029.2:p.(Trp157Ter)	NC_000005.9:g.112111374G>A	(Likely) pathogenic	2 labs	bf0bec9412
11:47372842 MYBPC3 T>C	11	47372842	47372842	T	C	MYBPC3	c.240A>G	NM_000256.3	NP_000247.2:p.(Ala80=)	NC_000011.9:g.47372842T>C	(Likely) benign	2 labs	bf1da39384
X:32583866 DMD G>A	X	32583866	32583866	G	A	DMD	c.1945C>T	NM_004006.3	NP_003997.2:p.(Arg649Trp)	NC_000023.10:g.32583866G>A	VUS	3 labs	bf1fda45bd
17:79478315 ACTG1 G>A	17	79478315	79478315	G	A	ACTG1	c.701C>T	NM_001199954.3	NP_001186883.1:p.(Ser234Phe)	NC_000017.10:g.79478315G>A	VUS	2 labs	bf278ac646
13:32954272 BRCA2 G>GA	13	32954272	32954279	G	GA	BRCA2	c.9253dup	NM_000059.4	NP_000050.3:p.(Thr3085AsnfsTer26)	NC_000013.10:g.32954279dup	(Likely) pathogenic	5 labs	bf2a122ad4
2:179482763 TTN C>T	2	179482763	179482763	C	T	TTN	c.47315G>A	NM_001267550.2	NP_001254479.2:p.(Arg15772Gln)	NC_000002.11:g.179482763C>T	(Likely) benign	6 labs	bf2d560793
5:13882841 DNAH5 A>G	5	13882841	13882841	A	G	DNAH5	c.3258T>C	NM_001369.3	NP_001360.1:p.(Leu1086=)	NC_000005.9:g.13882841A>G	(Likely) benign	2 labs	bf37f97935
2:189875560 COL3A1 T>C	2	189875560	189875560	T	C	COL3A1	c.4198T>C	NM_000090.4	NP_000081.2:p.(Phe1400Leu)	NC_000002.11:g.189875560T>C	VUS	2 labs	bf41f89cd0
2:54886346 SPTBN1 C>A	2	54886346	54886346	C	A	SPTBN1	c.6299C>A	NM_003128.3	NP_003119.2:p.(Pro2100Gln)	NC_000002.11:g.54886346C>A	VUS	2 labs	bf463d429b
17:41246255 BRCA1 T>TA	17	41246255	41246257	T	TA	BRCA1	c.1292dup	NM_007294.4	NP_009225.1:p.(Leu431PhefsTer5)	NC_000017.10:g.41246257dup	(Likely) pathogenic	6 labs	bf4937807c
13:32953580 BRCA2 G>A	13	32953580	32953580	G	A	BRCA2	c.8881G>A	NM_000059.4	NP_000050.3:p.(Gly2961Ser)	NC_000013.10:g.32953580G>A	VUS	2 labs	bf5b38ee22
11:108235879 ATM C>T	11	108235879	108235879	C	T	ATM	c.8921C>T	NM_000051.4	NP_000042.3:p.(Pro2974Leu)	NC_000011.9:g.108235879C>T	VUS	3 labs	bf5d8eac48
9:80343587 GNAQ G>GAA	9	80343587	80343601	G	GAA	GNAQ	c.736-6_736-5dup	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80343600_80343601dup	(Likely) benign	3 labs	bf65128756
2:47641529 MSH2 C>CAGCAGTCA	2	47641529	47641537	C	CAGCAGTCA	MSH2	c.915_922dup	NM_000251.3	NP_000242.1:p.(Arg308LysfsTer26)	NC_000002.11:g.47641530_47641537dup	(Likely) pathogenic	3 labs	bf69983f88
9:133901752 LAMC3 C>T	9	133901752	133901752	C	T	LAMC3	c.454C>T	NM_006059.4	NP_006050.3:p.(Arg152Cys)	NC_000009.11:g.133901752C>T	(Likely) benign	4 labs	bf6dbba420
3:147131276 ZIC1 G>A	3	147131276	147131276	G	A	ZIC1	c.1282G>A	NM_003412.4	NP_003403.2:p.(Ala428Thr)	NC_000003.11:g.147131276G>A	VUS	2 labs	bf849c22e1
19:45451987 APOC2 G>A	19	45451987	45451987	G	A	APOC2	c.85G>A	NM_000483.5	NP_000474.2:p.(Asp29Asn)	NC_000019.9:g.45451987G>A	VUS	2 labs	bf84c5ecbe
16:15839080 MYH11 C>T	16	15839080	15839080	C	T	MYH11	c.2426G>A	NM_002474.3	NP_002465.1:p.(Arg809Lys)	NC_000016.9:g.15839080C>T	VUS	2 labs	bf860b0422
12:133208969 POLE G>A	12	133208969	133208969	G	A	POLE	c.6262C>T	NM_006231.4	NP_006222.2:p.(Pro2088Ser)	NC_000012.11:g.133208969G>A	VUS	2 labs	bf89fb9e73
2:220285335 DES C>T	2	220285335	220285335	C	T	DES	c.854C>T	NM_001927.4	NP_001918.3:p.(Ala285Val)	NC_000002.11:g.220285335C>T	(Likely) pathogenic	3 labs	bf8b9f0c2a
11:47354740 MYBPC3 C>G	11	47354740	47354740	C	G	MYBPC3	c.3330+5G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354740C>G	(Likely) pathogenic	3 labs	bf9b0eafce
X:70349947 MED12 A>C	X	70349947	70349947	A	C	MED12	c.3930A>C	NM_005120.3	NP_005111.2:p.(Pro1310=)	NC_000023.10:g.70349947A>C	(Likely) benign	2 labs	bf9cf17868
16:88499539 ZNF469 C>G	16	88499539	88499539	C	G	ZNF469	c.5661C>G	NM_001367624.2	NP_001354553.1:p.(Thr1887=)	NC_000016.9:g.88499539C>G	(Likely) benign	3 labs	bfa02102e3
1:236910986 ACTN2 G>A	1	236910986	236910986	G	A	ACTN2	c.802G>A	NM_001278344.2	NP_001265273.1:p.(Ala268Thr)	NC_000001.10:g.236910986G>A	(Likely) benign	3 labs	bfa5555928
7:91713972 AKAP9 C>T	7	91713972	91713972	C	T	AKAP9	c.8665C>T	NM_005751.5	NP_005742.4:p.(Leu2889=)	NC_000007.13:g.91713972C>T	(Likely) benign	2 labs	bfa706c05d
5:233681 SDHA C>G	5	233681	233681	C	G	SDHA	c.985C>G	NM_004168.4	NP_004159.2:p.(Arg329Gly)	NC_000005.9:g.233681C>G	VUS	2 labs	bfb379875d
18:21148768 NPC1 T>C	18	21148768	21148768	T	C	NPC1	c.463+19A>G	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21148768T>C	(Likely) benign	2 labs	bfd1bfc4d6
17:78186011 SGSH A>G	17	78186011	78186011	A	G	SGSH	c.808T>C	NM_001352921.3	NP_001339850.1:p.(Phe270Leu)	NC_000017.10:g.78186011A>G	VUS	2 labs	eda41e13ce
5:118811533 HSD17B4 G>A	5	118811533	118811533	G	A	HSD17B4	c.392G>A	NM_001199291.3	NP_001186220.1:p.(Arg131His)	NC_000005.9:g.118811533G>A	(Likely) benign	2 labs	bfeb734a5f
X:99922289 SRPX2 A>G	X	99922289	99922289	A	G	SRPX2	c.980A>G	NM_014467.3	NP_055282.1:p.(Asn327Ser)	NC_000023.10:g.99922289A>G	(Likely) benign	4 labs	bff058b254
13:32900751 BRCA2 G>C	13	32900751	32900751	G	C	BRCA2	c.631+1G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900751G>C	VUS	2 labs	bff54d4e1e
11:108199929 ATM T>G	11	108199929	108199929	T	G	ATM	c.7271T>G	NM_000051.4	NP_000042.3:p.(Val2424Gly)	NC_000011.9:g.108199929T>G	(Likely) pathogenic	5 labs	bff660cb00
7:82455895 PCLO A>G	7	82455895	82455895	A	G	PCLO	c.14415+10T>C	NM_033026.6	NP_149015.2:p.?	NC_000007.13:g.82455895A>G	(Likely) benign	2 labs	c00b5aca86
22:29091788 CHEK2 T>G	22	29091788	29091788	T	G	CHEK2	c.1169A>C	NM_007194.4	NP_009125.1:p.(Tyr390Ser)	NC_000022.10:g.29091788T>G	(Likely) pathogenic	2 labs	c00fda14f6
X:54475682 FGD1 C>T	X	54475682	54475682	C	T	FGD1	c.2168G>A	NM_004463.3	NP_004454.2:p.(Arg723Gln)	NC_000023.10:g.54475682C>T	VUS	3 labs	c030e19f34
18:21119756 NPC1 A>G	18	21119756	21119756	A	G	NPC1	c.2795+19T>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21119756A>G	(Likely) benign	3 labs	c034877c97
7:6027182 PMS2 G>T	7	6027182	6027182	G	T	PMS2	c.1214C>A	NM_000535.7	NP_000526.2:p.(Ser405Ter)	NC_000007.13:g.6027182G>T	(Likely) pathogenic	2 labs	c03edea028
11:125848261 CDON C>T	11	125848261	125848261	C	T	CDON	c.3294G>A	NM_001243597.2	NP_001230526.1:p.(Thr1098=)	NC_000011.9:g.125848261C>T	(Likely) benign	2 labs	c0455b7762
8:30973957 WRN G>T	8	30973957	30973957	G	T	WRN	c.2361G>T	NM_000553.6	NP_000544.2:p.(Leu787=)	NC_000008.10:g.30973957G>T	(Likely) benign	2 labs	c04ee95515
2:220435034 OBSL1 A>G	2	220435034	220435034	A	G	OBSL1	c.921T>C	NM_015311.3	NP_056126.1:p.(Leu307=)	NC_000002.11:g.220435034A>G	(Likely) benign	2 labs	c052270bdc
X:44920013 KDM6A T>C	X	44920013	44920013	T	C	KDM6A	c.1330-556T>C	NM_021140.4	NP_066963.2:p.?	NC_000023.10:g.44920013T>C	(Likely) benign	2 labs	c0665be14b
6:24515530 ALDH5A1 A>G	6	24515530	24515530	A	G	ALDH5A1	c.862A>G	NM_001080.3	NP_001071.1:p.(Thr288Ala)	NC_000006.11:g.24515530A>G	VUS	3 labs	c079ddfa80
4:71509905 ENAM AT>A	4	71509905	71509906	AT	A	ENAM	c.2763del	NM_031889.3	NP_114095.2:p.(Asp921GlufsTer32)	NC_000004.11:g.71509906del	(Likely) pathogenic	2 labs	c0857c78b5
18:7049165 LAMA1 C>T	18	7049165	7049165	C	T	LAMA1	c.680G>A	NM_005559.4	NP_005550.2:p.(Arg227His)	NC_000018.9:g.7049165C>T	VUS	2 labs	c08cdb301c
12:8975873 A2ML1 C>G	12	8975873	8975873	C	G	A2ML1	c.158C>G	NM_144670.6	NP_653271.3:p.(Thr53Arg)	NC_000012.11:g.8975873C>G	(Likely) benign	2 labs	c09ebab0df
2:179441119 TTN G>A	2	179441119	179441119	G	A	TTN	c.69740C>T	NM_001267550.2	NP_001254479.2:p.(Pro23247Leu)	NC_000002.11:g.179441119G>A	(Likely) benign	4 labs	c0a25c7e12
18:25565082 CDH2 A>G	18	25565082	25565082	A	G	CDH2	c.2091T>C	NM_001792.5	NP_001783.2:p.(Arg697=)	NC_000018.9:g.25565082A>G	(Likely) benign	2 labs	c0ac93e5a6
17:43535766 PLEKHM1 G>T	17	43535766	43535766	G	T	PLEKHM1	c.1348C>A	NM_014798.3	NP_055613.1:p.(Pro450Thr)	NC_000017.10:g.43535766G>T	VUS	2 labs	c0b5c50b2c
5:13916533 DNAH5 A>G	5	13916533	13916533	A	G	DNAH5	c.1121T>C	NM_001369.3	NP_001360.1:p.(Ile374Thr)	NC_000005.9:g.13916533A>G	VUS	3 labs	c0bc3d21ee
19:7708058 STXBP2 C>T	19	7708058	7708058	C	T	STXBP2	c.1067C>T	NM_001272034.2	NP_001258963.1:p.(Thr356Met)	NC_000019.9:g.7708058C>T	(Likely) benign	2 labs	c0cd295f14
15:72637823 HEXA T>C	15	72637823	72637823	T	C	HEXA	c.1490A>G	NM_000520.6	NP_000511.2:p.(Tyr497Cys)	NC_000015.9:g.72637823T>C	VUS	3 labs	c0cf121228
12:52307028 ACVRL1 C>T	12	52307028	52307028	C	T	ACVRL1	c.207C>T	NM_000020.3	NP_000011.2:p.(Cys69=)	NC_000012.11:g.52307028C>T	(Likely) benign	4 labs	c0d7e49472
11:128786294 KCNJ5 G>A	11	128786294	128786294	G	A	KCNJ5	c.938-10G>A	NM_000890.5	NP_000881.3:p.?	NC_000011.9:g.128786294G>A	(Likely) benign	3 labs	c0f1b452f7
2:121747429 GLI2 A>G	2	121747429	121747429	A	G	GLI2	c.3939A>G	NM_005270.5	NP_005261.2:p.(Pro1313=)	NC_000002.11:g.121747429A>G	(Likely) benign	2 labs	c0fc070cb7
13:32914815 BRCA2 G>A	13	32914815	32914815	G	A	BRCA2	c.6323G>A	NM_000059.4	NP_000050.3:p.(Arg2108His)	NC_000013.10:g.32914815G>A	(Likely) benign	7 labs	c1039ef0ba
4:995459 IDUA C>T	4	995459	995459	C	T	IDUA	c.590-8C>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.995459C>T	(Likely) benign	4 labs	c104480abd
22:29121000 CHEK2 T>C	22	29121000	29121000	T	C	CHEK2	c.557A>G	NM_007194.4	NP_009125.1:p.(Asn186Ser)	NC_000022.10:g.29121000T>C	VUS	2 labs	c10644d15b
1:216595306 USH2A C>T	1	216595306	216595306	C	T	USH2A	c.373G>A	NM_206933.4	NP_996816.3:p.(Ala125Thr)	NC_000001.10:g.216595306C>T	(Likely) benign	2 labs	c10f1beb95
12:48391416 COL2A1 G>T	12	48391416	48391416	G	T	COL2A1	c.504C>A	NM_001844.5	NP_001835.3:p.(Gly168=)	NC_000012.11:g.48391416G>T	(Likely) benign	2 labs	c115a7897b
10:75832614 VCL C>G	10	75832614	75832614	C	G	VCL	c.622+4C>G	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75832614C>G	(Likely) benign	4 labs	c12008dab6
2:179429122 TTN A>G	2	179429122	179429122	A	G	TTN	c.81737T>C	NM_001267550.2	NP_001254479.2:p.(Ile27246Thr)	NC_000002.11:g.179429122A>G	VUS	2 labs	c123deb5a5
15:85411488 ALPK3 C>CT	15	85411488	85411489	C	CT	ALPK3	c.4920dup	NM_020778.5	NP_065829.4:p.(Lys1641Ter)	NC_000015.9:g.85411489dup	VUS	4 labs	c12b1be033
3:32200446 GPD1L G>A	3	32200446	32200446	G	A	GPD1L	c.697G>A	NM_015141.4	NP_055956.1:p.(Gly233Arg)	NC_000003.11:g.32200446G>A	VUS	2 labs	c12e7acf54
8:144996452 PLEC T>C	8	144996452	144996452	T	C	PLEC	c.7618A>G	NM_000445.5	NP_000436.2:p.(Lys2540Glu)	NC_000008.10:g.144996452T>C	VUS	2 labs	c137a9e80c
2:220286064 DES C>T	2	220286064	220286064	C	T	DES	c.1026C>T	NM_001927.4	NP_001918.3:p.(Asn342=)	NC_000002.11:g.220286064C>T	(Likely) benign	5 labs	c147503341
8:10465097 RP1L1 C>T	8	10465097	10465097	C	T	RP1L1	c.6511G>A	NM_178857.6	NP_849188.4:p.(Glu2171Lys)	NC_000008.10:g.10465097C>T	(Likely) benign	2 labs	c14b2976d4
12:33031309 PKP2 T>C	12	33031309	33031309	T	C	PKP2	c.505A>G	NM_004572.4	NP_004563.2:p.(Ser169Gly)	NC_000012.11:g.33031309T>C	(Likely) benign	5 labs	c15bd7d277
17:29496958 NF1 A>G	17	29496958	29496958	A	G	NF1	c.529A>G	NM_000267.3	NP_000258.1:p.(Ile177Val)	NC_000017.10:g.29496958A>G	VUS	2 labs	c15d895654
X:32591931 DMD T>C	X	32591931	32591931	T	C	DMD	c.1635A>G	NM_004006.3	NP_003997.2:p.(Arg545=)	NC_000023.10:g.32591931T>C	(Likely) benign	4 labs	c16af66494
9:35800712 NPR2 G>A	9	35800712	35800712	G	A	NPR2	c.1225G>A	NM_003995.4	NP_003986.2:p.(Ala409Thr)	NC_000009.11:g.35800712G>A	(Likely) pathogenic	3 labs	c16efef7d6
17:33428341 RAD51D T>G	17	33428341	33428341	T	G	RAD51D	c.842A>C	NM_001142571.2	NP_001136043.1:p.(Lys281Thr)	NC_000017.10:g.33428341T>G	VUS	2 labs	c1861cc83d
11:36596065 RAG1 G>A	11	36596065	36596065	G	A	RAG1	c.1211G>A	NM_000448.3	NP_000439.2:p.(Arg404Gln)	NC_000011.9:g.36596065G>A	(Likely) pathogenic	5 labs	c19ffb6f81
10:95395247 PDE6C A>G	10	95395247	95395247	A	G	PDE6C	c.1270-7A>G	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95395247A>G	(Likely) benign	2 labs	c1a19106d3
16:68842578 CDH1 C>T	16	68842578	68842578	C	T	CDH1	c.532-18C>T	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842578C>T	(Likely) benign	3 labs	c1a9becc1b
11:6415463 SMPD1 G>A	11	6415463	6415463	G	A	SMPD1	c.1522G>A	NM_000543.5	NP_000534.3:p.(Gly508Arg)	NC_000011.9:g.6415463G>A	(Likely) benign	3 labs	c1aca4cf42
11:103123999 DYNC2H1 G>T	11	103123999	103123999	G	T	DYNC2H1	c.10064-15G>T	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103123999G>T	(Likely) benign	3 labs	c1b89370fa
7:21765452 DNAH11 C>T	7	21765452	21765452	C	T	DNAH11	c.7290C>T	NM_001277115.2	NP_001264044.1:p.(Phe2430=)	NC_000007.13:g.21765452C>T	(Likely) benign	2 labs	c1c8ea1783
10:105797446 COL17A1 G>A	10	105797446	105797446	G	A	COL17A1	c.3156C>T	NM_000494.4	NP_000485.3:p.(Gly1052=)	NC_000010.10:g.105797446G>A	(Likely) pathogenic	2 labs	c1d1efbf67
22:32266706 DEPDC5 C>T	22	32266706	32266706	C	T	DEPDC5	c.3461C>T	NM_001242896.3	NP_001229825.1:p.(Ser1154Phe)	NC_000022.10:g.32266706C>T	VUS	3 labs	c1d30bbfb4
19:11224327 LDLR A>G	19	11224327	11224327	A	G	LDLR	c.1475A>G	NM_000527.5	NP_000518.1:p.(Asp492Gly)	NC_000019.9:g.11224327A>G	(Likely) pathogenic	2 labs	c1d7784d4d
22:36691607 MYH9 A>C	22	36691607	36691607	A	C	MYH9	c.3429T>G	NM_002473.6	NP_002464.1:p.(Ala1143=)	NC_000022.10:g.36691607A>C	(Likely) benign	2 labs	c1d892b92e
6:3225721 TUBB2B C>G	6	3225721	3225721	C	G	TUBB2B	c.602G>C	NM_178012.5	NP_821080.1:p.(Cys201Ser)	NC_000006.11:g.3225721C>G	(Likely) benign	2 labs	d9f1217882
2:29416572 ALK T>C	2	29416572	29416572	T	C	ALK	c.4381A>G	NM_004304.5	NP_004295.2:p.(Ile1461Val)	NC_000002.11:g.29416572T>C	(Likely) benign	6 labs	c1e005922d
1:55518467 PCSK9 A>G	1	55518467	55518467	A	G	PCSK9	c.799+3A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518467A>G	(Likely) benign	2 labs	c1e3bdcdc0
3:53835340 CACNA1D G>C	3	53835340	53835340	G	C	CACNA1D	c.5356G>C	NM_000720.4	NP_000711.1:p.(Ala1786Pro)	NC_000003.11:g.53835340G>C	(Likely) benign	3 labs	c1f02e1e82
19:11230820 LDLR G>A	19	11230820	11230820	G	A	LDLR	c.1898G>A	NM_000527.5	NP_000518.1:p.(Arg633His)	NC_000019.9:g.11230820G>A	(Likely) pathogenic	2 labs	c1f060d55f
8:133900386 TG T>C	8	133900386	133900386	T	C	TG	c.2334T>C	NM_003235.5	NP_003226.4:p.(Pro778=)	NC_000008.10:g.133900386T>C	(Likely) benign	2 labs	c1f650851a
8:117868522 RAD21 C>T	8	117868522	117868522	C	T	RAD21	c.820G>A	NM_006265.3	NP_006256.1:p.(Gly274Arg)	NC_000008.10:g.117868522C>T	VUS	2 labs	c1f76f0a8c
7:116411923 MET C>T	7	116411923	116411923	C	T	MET	c.2962C>T	NM_001127500.3	NP_001120972.1:p.(Arg988Cys)	NC_000007.13:g.116411923C>T	(Likely) benign	5 labs	c1fc153e2b
7:124482897 POT1 T>C	7	124482897	124482897	T	C	POT1	c.1127A>G	NM_015450.3	NP_056265.2:p.(Gln376Arg)	NC_000007.13:g.124482897T>C	VUS	3 labs	c2092ea0f0
4:151356763 LRBA T>C	4	151356763	151356763	T	C	LRBA	c.7019A>G	NM_001199282.2	NP_001186211.2:p.(Gln2340Arg)	NC_000004.11:g.151356763T>C	VUS	2 labs	f077cc9119
7:151478392 PRKAG2 G>A	7	151478392	151478392	G	A	PRKAG2	c.312C>T	NM_016203.4	NP_057287.2:p.(Thr104=)	NC_000007.13:g.151478392G>A	(Likely) benign	2 labs	c217a8790b
20:42788617 JPH2 G>T	20	42788617	42788617	G	T	JPH2	c.810C>A	NM_020433.5	NP_065166.2:p.(Ala270=)	NC_000020.10:g.42788617G>T	(Likely) benign	4 labs	c217adc068
2:21263900 APOB G>A	2	21263900	21263900	G	A	APOB	c.293C>T	NM_000384.3	NP_000375.3:p.(Thr98Ile)	NC_000002.11:g.21263900G>A	(Likely) benign	2 labs	c22a7fa3fc
3:14171082 TMEM43 C>T	3	14171082	14171082	C	T	TMEM43	c.162+21C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14171082C>T	(Likely) benign	3 labs	c22ca11c70
6:1611770 FOXC1 C>T	6	1611770	1611770	C	T	FOXC1	c.1090C>T	NM_001453.3	NP_001444.2:p.(Pro364Ser)	NC_000006.11:g.1611770C>T	VUS	2 labs	c22f170fba
6:123833457 TRDN G>C	6	123833457	123833457	G	C	TRDN	c.601C>G	NM_006073.4	NP_006064.2:p.(Leu201Val)	NC_000006.11:g.123833457G>C	(Likely) benign	2 labs	c231a028c1
3:4776960 ITPR1 C>T	3	4776960	4776960	C	T	ITPR1	c.5421C>T	NM_001168272.2	NP_001161744.1:p.(Asn1807=)	NC_000003.11:g.4776960C>T	(Likely) benign	2 labs	c23b707645
13:32911944 BRCA2 TC>T	13	32911944	32911945	TC	T	BRCA2	c.3453del	NM_000059.4	NP_000050.3:p.(Leu1152Ter)	NC_000013.10:g.32911945del	(Likely) pathogenic	4 labs	c271de7e8a
19:11226801 LDLR G>A	19	11226801	11226801	G	A	LDLR	c.1618G>A	NM_000527.5	NP_000518.1:p.(Ala540Thr)	NC_000019.9:g.11226801G>A	(Likely) pathogenic	2 labs	c27c55606d
16:23634435 PALB2 A>G	16	23634435	23634435	A	G	PALB2	c.2851T>C	NM_024675.4	NP_078951.2:p.(Ser951Pro)	NC_000016.9:g.23634435A>G	(Likely) benign	3 labs	c27ea2dd58
19:50762418 MYH14 A>G	19	50762418	50762418	A	G	MYH14	c.2250A>G	NM_001145809.2	NP_001139281.1:p.(Pro750=)	NC_000019.9:g.50762418A>G	(Likely) benign	3 labs	c28e62e7fd
X:153172121 AVPR2 G>A	X	153172121	153172121	G	A	AVPR2	c.1055G>A	NM_000054.6	NP_000045.1:p.(Gly352Asp)	NC_000023.10:g.153172121G>A	(Likely) benign	3 labs	c29688f11c
2:175622321 CHRNA1 C>T	2	175622321	175622321	C	T	CHRNA1	c.317G>A	NM_000079.4	NP_000070.1:p.(Trp106Ter)	NC_000002.11:g.175622321C>T	(Likely) pathogenic	5 labs	c29813b277
11:47357493 MYBPC3 C>T	11	47357493	47357493	C	T	MYBPC3	c.2672G>A	NM_000256.3	NP_000247.2:p.(Arg891Gln)	NC_000011.9:g.47357493C>T	VUS	2 labs	c298a169b9
12:124177289 TCTN2 T>C	12	124177289	124177289	T	C	TCTN2	c.1099+19T>C	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124177289T>C	(Likely) benign	2 labs	c2996956d6
11:47369407 MYBPC3 C>T	11	47369407	47369407	C	T	MYBPC3	c.821+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369407C>T	(Likely) pathogenic	3 labs	c29bb55d6e
1:114444401 AP4B1 TA>T	1	114444401	114444402	TA	T	AP4B1	c.444del	NM_006594.5	NP_006585.2:p.(His148GlnfsTer9)	NC_000001.10:g.114444402del	(Likely) pathogenic	2 labs	c29fb66569
6:152473245 SYNE1 G>A	6	152473245	152473245	G	A	SYNE1	c.24161C>T	NM_182961.4	NP_892006.3:p.(Thr8054Met)	NC_000006.11:g.152473245G>A	VUS	2 labs	c2a91df5e8
16:88790362 PIEZO1 A>G	16	88790362	88790362	A	G	PIEZO1	c.4252T>C	NM_001142864.4	NP_001136336.2:p.(Tyr1418His)	NC_000016.9:g.88790362A>G	VUS	2 labs	c2b699f7cf
2:230723595 TRIP12 C>T	2	230723595	230723595	C	T	TRIP12	c.794G>A	NM_004238.3	NP_004229.1:p.(Arg265His)	NC_000002.11:g.230723595C>T	(Likely) benign	2 labs	c2bb24d886
10:75857021 VCL T>A	10	75857021	75857021	T	A	VCL	c.1803T>A	NM_014000.3	NP_054706.1:p.(Asp601Glu)	NC_000010.10:g.75857021T>A	VUS	3 labs	c2dd50b5fc
16:88902277 GALNS G>A	16	88902277	88902277	G	A	GALNS	c.634-20C>T	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88902277G>A	(Likely) benign	3 labs	c2e1cf15fe
1:11854457 MTHFR G>A	1	11854457	11854457	G	A	MTHFR	c.1305C>T	NM_005957.5	NP_005948.3:p.(Phe435=)	NC_000001.10:g.11854457G>A	(Likely) benign	4 labs	c2ffc1ec3c
11:6413366 SMPD1 C>T	11	6413366	6413366	C	T	SMPD1	c.1071C>T	NM_000543.5	NP_000534.3:p.(Ala357=)	NC_000011.9:g.6413366C>T	(Likely) benign	2 labs	c3000cc6be
2:145162506 ZEB2 G>A	2	145162506	145162506	G	A	ZEB2	c.489C>T	NM_014795.4	NP_055610.1:p.(Ile163=)	NC_000002.11:g.145162506G>A	(Likely) benign	3 labs	c30f7bc443
4:110723127 CFI T>C	4	110723127	110723127	T	C	CFI	c.-184A>G	NM_001375284.1	NP_001362213.1:p.?	NC_000004.11:g.110723127T>C	(Likely) pathogenic	2 labs	c317013508
3:37067468 MLH1 A>C	3	37067468	37067468	A	C	MLH1	c.1379A>C	NM_000249.4	NP_000240.1:p.(Glu460Ala)	NC_000003.11:g.37067468A>C	(Likely) benign	2 labs	c31d8a5160
10:69948844 MYPN T>C	10	69948844	69948844	T	C	MYPN	c.2004T>C	NM_001256268.2	NP_001243197.1:p.(Val668=)	NC_000010.10:g.69948844T>C	(Likely) benign	2 labs	c320b2bb9f
2:179532220 TTN C>G	2	179532220	179532220	C	G	TTN	c.35662G>C	NM_001267550.2	NP_001254479.2:p.(Asp11888His)	NC_000002.11:g.179532220C>G	VUS	2 labs	c321a90e93
6:88272418 RARS2 A>C	6	88272418	88272418	A	C	RARS2	c.297+2T>G	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88272418A>C	(Likely) pathogenic	2 labs	c32afa225c
12:6105387 VWF G>A	12	6105387	6105387	G	A	VWF	c.5844C>T	NM_000552.5	NP_000543.3:p.(Cys1948=)	NC_000012.11:g.6105387G>A	(Likely) benign	2 labs	c332c245af
6:116446576 COL10A1 A>G	6	116446576	116446576	A	G	COL10A1	c.80T>C	NM_000493.4	NP_000484.2:p.(Met27Thr)	NC_000006.11:g.116446576A>G	(Likely) benign	2 labs	c352c5b813
2:179413522 TTN C>T	2	179413522	179413522	C	T	TTN	c.92831G>A	NM_001267550.2	NP_001254479.2:p.(Arg30944His)	NC_000002.11:g.179413522C>T	VUS	2 labs	c359b1d95e
2:220286185 DES C>T	2	220286185	220286185	C	T	DES	c.1147C>T	NM_001927.4	NP_001918.3:p.(Arg383Cys)	NC_000002.11:g.220286185C>T	VUS	3 labs	c3615aec4e
20:42744751 JPH2 G>A	20	42744751	42744751	G	A	JPH2	c.1564C>T	NM_020433.5	NP_065166.2:p.(Arg522Trp)	NC_000020.10:g.42744751G>A	VUS	4 labs	c369cf2ac4
12:53071209 KRT1 T>C	12	53071209	53071209	T	C	KRT1	c.1019A>G	NM_006121.4	NP_006112.3:p.(Asp340Gly)	NC_000012.11:g.53071209T>C	(Likely) pathogenic	2 labs	c3721984ab
5:39342308 C9 C>T	5	39342308	39342308	C	T	C9	c.78-10G>A	NM_001737.5	NP_001728.1:p.?	NC_000005.9:g.39342308C>T	(Likely) benign	2 labs	c373db7965
10:104359183 SUFU G>A	10	104359183	104359183	G	A	SUFU	c.911-7G>A	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104359183G>A	(Likely) benign	2 labs	c37510a9f2
15:72638892 HEXA T>C	15	72638892	72638892	T	C	HEXA	c.1306A>G	NM_000520.6	NP_000511.2:p.(Ile436Val)	NC_000015.9:g.72638892T>C	(Likely) benign	4 labs	c3796b267a
22:29090054 CHEK2 G>A	22	29090054	29090054	G	A	CHEK2	c.1427C>T	NM_007194.4	NP_009125.1:p.(Thr476Met)	NC_000022.10:g.29090054G>A	VUS	6 labs	c38c5646f0
2:179529609 TTN A>C	2	179529609	179529609	A	C	TTN	c.36088T>G	NM_001267550.2	NP_001254479.2:p.(Ser12030Ala)	NC_000002.11:g.179529609A>C	(Likely) benign	3 labs	c38c726761
10:76735563 KAT6B C>T	10	76735563	76735563	C	T	KAT6B	c.1468C>T	NM_012330.4	NP_036462.2:p.(Pro490Ser)	NC_000010.10:g.76735563C>T	(Likely) benign	2 labs	c3a0f207ff
20:61048549 GATA5 G>A	20	61048549	61048549	G	A	GATA5	c.609C>T	NM_080473.5	NP_536721.1:p.(Asp203=)	NC_000020.10:g.61048549G>A	(Likely) benign	2 labs	c3b32834fb
11:71146794 DHCR7 C>T	11	71146794	71146794	C	T	DHCR7	c.1055G>A	NM_001360.3	NP_001351.2:p.(Arg352Gln)	NC_000011.9:g.71146794C>T	(Likely) pathogenic	2 labs	c3c6d86eac
15:73615786 HCN4 G>C	15	73615786	73615786	G	C	HCN4	c.2648C>G	NM_005477.3	NP_005468.1:p.(Pro883Arg)	NC_000015.9:g.73615786G>C	(Likely) benign	5 labs	c3d91e7b83
2:73677898 ALMS1 G>C	2	73677898	73677898	G	C	ALMS1	c.4247G>C	NM_015120.4	NP_055935.4:p.(Gly1416Ala)	NC_000002.11:g.73677898G>C	(Likely) benign	2 labs	c3ea57bf67
22:38164106 TRIOBP C>T	22	38164106	38164106	C	T	TRIOBP	c.6498C>T	NM_001039141.3	NP_001034230.1:p.(Tyr2166=)	NC_000022.10:g.38164106C>T	(Likely) benign	2 labs	c3eafaf553
2:191161622 HIBCH T>C	2	191161622	191161622	T	C	HIBCH	c.136A>G	NM_014362.4	NP_055177.2:p.(Thr46Ala)	NC_000002.11:g.191161622T>C	(Likely) benign	2 labs	c3fabe5e26
12:66911771 GRIP1 G>T	12	66911771	66911771	G	T	GRIP1	c.503-15C>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66911771G>T	(Likely) benign	2 labs	c3fdbf2d6f
10:75864962 VCL G>A	10	75864962	75864962	G	A	VCL	c.2285G>A	NM_014000.3	NP_054706.1:p.(Arg762Gln)	NC_000010.10:g.75864962G>A	VUS	3 labs	d9f5806a0f
11:71146507 DHCR7 C>T	11	71146507	71146507	C	T	DHCR7	c.1342G>A	NM_001360.3	NP_001351.2:p.(Glu448Lys)	NC_000011.9:g.71146507C>T	(Likely) pathogenic	2 labs	c4009d9c06
5:89985795 ADGRV1 T>C	5	89985795	89985795	T	C	ADGRV1	c.6608T>C	NM_032119.4	NP_115495.3:p.(Val2203Ala)	NC_000005.9:g.89985795T>C	(Likely) benign	5 labs	c4068e4ab1
2:39283845 SOS1 T>C	2	39283845	39283845	T	C	SOS1	c.508A>G	NM_005633.4	NP_005624.2:p.(Lys170Glu)	NC_000002.11:g.39283845T>C	(Likely) pathogenic	3 labs	c407cf4fe7
8:75274141 GDAP1 T>G	8	75274141	75274141	T	G	GDAP1	c.507T>G	NM_018972.4	NP_061845.2:p.(Ser169=)	NC_000008.10:g.75274141T>G	(Likely) benign	2 labs	c4094bdeb1
3:184049756 EIF4G1 C>T	3	184049756	184049756	C	T	EIF4G1	c.4503C>T	NM_182917.4	NP_886553.3:p.(Asp1501=)	NC_000003.11:g.184049756C>T	(Likely) benign	2 labs	c40f15dd78
18:42456653 SETBP1 G>A	18	42456653	42456653	G	A	SETBP1	c.664G>A	NM_001130110.2	NP_001123582.1:p.(Ala222Thr)	NC_000018.9:g.42456653G>A	(Likely) benign	2 labs	c41450f865
2:44507992 SLC3A1 A>G	2	44507992	44507992	A	G	SLC3A1	c.568A>G	NM_000341.4	NP_000332.2:p.(Met190Val)	NC_000002.11:g.44507992A>G	VUS	2 labs	c41bdf9614
1:94480221 ABCA4 G>C	1	94480221	94480221	G	C	ABCA4	c.5338C>G	NM_000350.3	NP_000341.2:p.(Pro1780Ala)	NC_000001.10:g.94480221G>C	VUS	2 labs	c41d4323aa
9:35805562 NPR2 T>G	9	35805562	35805562	T	G	NPR2	c.1942T>G	NM_003995.4	NP_003986.2:p.(Ser648Ala)	NC_000009.11:g.35805562T>G	VUS	2 labs	c41f21460c
14:67147846 GPHN A>G	14	67147846	67147846	A	G	GPHN	c.86A>G	NM_020806.5	NP_065857.1:p.(Asn29Ser)	NC_000014.8:g.67147846A>G	VUS	2 labs	c447902d3a
10:89623733 PTEN GGCGGCGGCC>G	10	89623733	89623750	GGCGGCGGCC	G	PTEN	c.36_44del	NM_001304717.5	NP_001291646.4:p.(Ala15_Ala17del)	NC_000010.10:g.89623742_89623750del	VUS	2 labs	c45075eece
14:68229099 ZFYVE26 C>T	14	68229099	68229099	C	T	ZFYVE26	c.6190G>A	NM_015346.4	NP_056161.2:p.(Gly2064Arg)	NC_000014.8:g.68229099C>T	VUS	2 labs	c4514f34b4
19:33333155 SLC7A9 G>A	19	33333155	33333155	G	A	SLC7A9	c.1143C>T	NM_001243036.2	NP_001229965.1:p.(Ala381=)	NC_000019.9:g.33333155G>A	(Likely) benign	2 labs	c45fd93928
17:39925442 JUP C>T	17	39925442	39925442	C	T	JUP	c.486G>A	NM_002230.4	NP_002221.1:p.(Ala162=)	NC_000017.10:g.39925442C>T	(Likely) benign	2 labs	c468620ddc
4:79300993 FRAS1 G>A	4	79300993	79300993	G	A	FRAS1	c.3406G>A	NM_025074.7	NP_079350.5:p.(Glu1136Lys)	NC_000004.11:g.79300993G>A	(Likely) benign	2 labs	c46e0f9c94
10:73455273 CDH23 T>C	10	73455273	73455273	T	C	CDH23	c.2388T>C	NM_022124.6	NP_071407.4:p.(Asp796=)	NC_000010.10:g.73455273T>C	(Likely) benign	2 labs	c47443f1bb
3:48620492 COL7A1 A>G	3	48620492	48620492	A	G	COL7A1	c.4483-11T>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48620492A>G	(Likely) benign	2 labs	c474c6923f
17:41245471 BRCA1 C>T	17	41245471	41245471	C	T	BRCA1	c.2077G>A	NM_007294.4	NP_009225.1:p.(Asp693Asn)	NC_000017.10:g.41245471C>T	(Likely) benign	6 labs	c477d18c98
18:29100761 DSG2 G>T	18	29100761	29100761	G	T	DSG2	c.217-5G>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29100761G>T	(Likely) benign	5 labs	c4790de902
15:89866693 POLG T>C	15	89866693	89866693	T	C	POLG	c.2207A>G	NM_002693.2	NP_002684.1:p.(Asn736Ser)	NC_000015.9:g.89866693T>C	VUS	3 labs	c485e7de49
11:47353740 MYBPC3 G>A	11	47353740	47353740	G	A	MYBPC3	c.3697C>T	NM_000256.3	NP_000247.2:p.(Gln1233Ter)	NC_000011.9:g.47353740G>A	(Likely) pathogenic	3 labs	c48a96cdf2
3:184095976 THPO C>T	3	184095976	184095976	C	T	THPO	c.162G>A	NM_001290003.1	NP_001276932.1:p.(Ala54=)	NC_000003.11:g.184095976C>T	(Likely) benign	3 labs	c4938e7c3e
16:23635433 PALB2 G>A	16	23635433	23635433	G	A	PALB2	c.2749-18C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635433G>A	(Likely) benign	6 labs	c494516ba2
20:42747220 JPH2 C>T	20	42747220	42747220	C	T	JPH2	c.1213G>A	NM_020433.5	NP_065166.2:p.(Ala405Thr)	NC_000020.10:g.42747220C>T	VUS	4 labs	c4959c856b
17:10298724 MYH8 C>T	17	10298724	10298724	C	T	MYH8	c.4688G>A	NM_002472.3	NP_002463.2:p.(Arg1563His)	NC_000017.10:g.10298724C>T	(Likely) benign	2 labs	c4a2f46937
4:55133900 PDGFRA G>A	4	55133900	55133900	G	A	PDGFRA	c.1113G>A	NM_006206.6	NP_006197.1:p.(Gln371=)	NC_000004.11:g.55133900G>A	(Likely) benign	2 labs	c4a9310467
11:47431728 SLC39A13 A>G	11	47431728	47431728	A	G	SLC39A13	c.83A>G	NM_001128225.3	NP_001121697.2:p.(Glu28Gly)	NC_000011.9:g.47431728A>G	(Likely) benign	2 labs	c4adb95760
3:189586404 TP63 G>A	3	189586404	189586404	G	A	TP63	c.1028G>A	NM_003722.5	NP_003713.3:p.(Arg343Gln)	NC_000003.11:g.189586404G>A	(Likely) pathogenic	2 labs	c4b2ea4d31
13:52523808 ATP7B C>T	13	52523808	52523808	C	T	ATP7B	c.2855G>A	NM_000053.4	NP_000044.2:p.(Arg952Lys)	NC_000013.10:g.52523808C>T	(Likely) benign	3 labs	c4b9ccbf98
4:110678925 CFI T>C	4	110678925	110678925	T	C	CFI	c.898A>G	NM_000204.5	NP_000195.3:p.(Thr300Ala)	NC_000004.11:g.110678925T>C	(Likely) benign	2 labs	c4ded6a0d5
2:215674224 BARD1 G>A	2	215674224	215674224	G	A	BARD1	c.70C>T	NM_000465.4	NP_000456.2:p.(Pro24Ser)	NC_000002.11:g.215674224G>A	(Likely) benign	3 labs	c4df89b2b8
16:77401545 ADAMTS18 A>G	16	77401545	77401545	A	G	ADAMTS18	c.571T>C	NM_199355.4	NP_955387.1:p.(Tyr191His)	NC_000016.9:g.77401545A>G	(Likely) benign	2 labs	c4eb6e2271
2:179616207 TTN A>G	2	179616207	179616207	A	G	TTN	c.10920T>C	NM_133379.5	NP_596870.2:p.(Ser3640=)	NC_000002.11:g.179616207A>G	(Likely) benign	4 labs	c4fd4329a0
19:2251512 AMH T>A	19	2251512	2251512	T	A	AMH	c.1239T>A	NM_000479.5	NP_000470.3:p.(Gly413=)	NC_000019.9:g.2251512T>A	(Likely) benign	3 labs	c502d32cb4
3:148896396 CP C>G	3	148896396	148896396	C	G	CP	c.2684G>C	NM_000096.4	NP_000087.2:p.(Gly895Ala)	NC_000003.11:g.148896396C>G	VUS	3 labs	c51269a267
9:139410424 NOTCH1 A>G	9	139410424	139410424	A	G	NOTCH1	c.1669+9T>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410424A>G	(Likely) benign	4 labs	c51451968e
X:99657721 PCDH19 G>A	X	99657721	99657721	G	A	PCDH19	c.2417C>T	NM_001184880.2	NP_001171809.1:p.(Ser806Phe)	NC_000023.10:g.99657721G>A	VUS	2 labs	c51aa3420d
2:179587379 TTN T>G	2	179587379	179587379	T	G	TTN	c.22240+7A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179587379T>G	(Likely) benign	4 labs	c5280b7698
2:179487440 TTN T>C	2	179487440	179487440	T	C	TTN	c.44870A>G	NM_001267550.2	NP_001254479.2:p.(Glu14957Gly)	NC_000002.11:g.179487440T>C	VUS	4 labs	c52a710f48
7:120428799 TSPAN12 C>A	7	120428799	120428799	C	A	TSPAN12	c.765G>T	NM_012338.4	NP_036470.1:p.(Pro255=)	NC_000007.13:g.120428799C>A	(Likely) benign	2 labs	c52cb390ee
8:10469233 RP1L1 A>G	8	10469233	10469233	A	G	RP1L1	c.2375T>C	NM_178857.6	NP_849188.4:p.(Leu792Pro)	NC_000008.10:g.10469233A>G	(Likely) benign	2 labs	c52e17622c
4:42965159 GRXCR1 A>C	4	42965159	42965159	A	C	GRXCR1	c.627+8A>C	NM_001080476.3	NP_001073945.1:p.?	NC_000004.11:g.42965159A>C	(Likely) benign	2 labs	c5302b9b95
17:7750177 KDM6B TACCACCACC>T	17	7750177	7750216	TACCACCACC	T	KDM6B	c.783_791del	NM_001080424.2	NP_001073893.1:p.(Pro262_Pro264del)	NC_000017.10:g.7750208_7750216del	(Likely) benign	3 labs	c53b92b440
16:10032276 GRIN2A A>T	16	10032276	10032276	A	T	GRIN2A	c.547T>A	NM_000833.5	NP_000824.1:p.(Phe183Ile)	NC_000016.9:g.10032276A>T	(Likely) benign	2 labs	c5453bf706
7:21939032 DNAH11 C>A	7	21939032	21939032	C	A	DNAH11	c.13128C>A	NM_001277115.2	NP_001264044.1:p.(Leu4376=)	NC_000007.13:g.21939032C>A	(Likely) benign	2 labs	c55815d4eb
X:153590653 FLNA G>A	X	153590653	153590653	G	A	FLNA	c.2613C>T	NM_001456.4	NP_001447.2:p.(Asp871=)	NC_000023.10:g.153590653G>A	(Likely) benign	3 labs	c559e60310
3:8787313 CAV3 C>G	3	8787313	8787313	C	G	CAV3	c.216C>G	NM_033337.3	NP_203123.1:p.(Cys72Trp)	NC_000003.11:g.8787313C>G	(Likely) benign	4 labs	c564c329f9
11:71146691 DHCR7 A>G	11	71146691	71146691	A	G	DHCR7	c.1158T>C	NM_001360.3	NP_001351.2:p.(Asp386=)	NC_000011.9:g.71146691A>G	(Likely) benign	2 labs	c571ab8831
2:15674686 NBAS T>C	2	15674686	15674686	T	C	NBAS	c.727A>G	NM_015909.4	NP_056993.2:p.(Ile243Val)	NC_000002.11:g.15674686T>C	(Likely) benign	2 labs	c586ec35b5
11:47364301 MYBPC3 C>T	11	47364301	47364301	C	T	MYBPC3	c.1458-6G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364301C>T	(Likely) pathogenic	5 labs	c58b6b417b
6:157454174 ARID1B G>GC	6	157454174	157454175	G	GC	ARID1B	c.2634dup	NM_001371656.1	NP_001358585.1:p.(Thr879HisfsTer35)	NC_000006.11:g.157454175dup	(Likely) pathogenic	2 labs	c590e19526
6:112435912 LAMA4 A>T	6	112435912	112435912	A	T	LAMA4	c.5160T>A	NM_001105206.3	NP_001098676.2:p.(Val1720=)	NC_000006.11:g.112435912A>T	(Likely) benign	3 labs	c592c0c2e1
13:32906602 BRCA2 G>A	13	32906602	32906602	G	A	BRCA2	c.987G>A	NM_000059.4	NP_000050.3:p.(Arg329=)	NC_000013.10:g.32906602G>A	(Likely) benign	4 labs	c595395fe4
11:64574704 MEN1 GGA>G	11	64574704	64574711	GGA	G	MEN1	c.799-15_799-14del	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64574710_64574711del	(Likely) benign	2 labs	c5a94e1e98
11:2186541 TH C>T	11	2186541	2186541	C	T	TH	c.1348G>A	NM_199292.3	NP_954986.2:p.(Val450Met)	NC_000011.9:g.2186541C>T	(Likely) benign	2 labs	c5c12c4c60
16:2546143 TBC1D24 C>T	16	2546143	2546143	C	T	TBC1D24	c.-7C>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2546143C>T	(Likely) benign	2 labs	c5c55b1ea8
16:46696284 VPS35 G>A	16	46696284	46696284	G	A	VPS35	c.1938C>T	NM_018206.6	NP_060676.2:p.(His646=)	NC_000016.9:g.46696284G>A	(Likely) benign	3 labs	c5ca8cb2a2
1:155206037 GBA1 G>A	1	155206037	155206037	G	A	GBA1	c.1223C>T	NM_001005741.3	NP_001005741.1:p.(Thr408Met)	NC_000001.10:g.155206037G>A	(Likely) benign	3 labs	c5cf563415
2:21229860 APOB A>G	2	21229860	21229860	A	G	APOB	c.9880T>C	NM_000384.3	NP_000375.3:p.(Ser3294Pro)	NC_000002.11:g.21229860A>G	(Likely) benign	2 labs	c5d976bcd3
2:128180872 PROC G>T	2	128180872	128180872	G	T	PROC	c.423G>T	NM_000312.4	NP_000303.1:p.(Ser141=)	NC_000002.11:g.128180872G>T	(Likely) benign	2 labs	c5e361092b
4:187158034 KLKB1 G>A	4	187158034	187158034	G	A	KLKB1	c.428G>A	NM_000892.5	NP_000883.2:p.(Ser143Asn)	NC_000004.11:g.187158034G>A	(Likely) benign	2 labs	c5e50a0e68
11:17519697 USH1C C>G	11	17519697	17519697	C	G	USH1C	c.2490+12G>C	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17519697C>G	(Likely) benign	2 labs	c5ea6d865b
12:80712307 OTOGL A>C	12	80712307	80712307	A	C	OTOGL	c.3635-19A>C	NM_173591.7	NP_775862.4:p.?	NC_000012.11:g.80712307A>C	(Likely) benign	2 labs	c5f3795521
19:11333787 DOCK6 G>A	19	11333787	11333787	G	A	DOCK6	c.2956-5C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11333787G>A	(Likely) benign	3 labs	c5f4f927a6
1:154573967 ADAR T>C	1	154573967	154573967	T	C	ADAR	c.266A>G	NM_001193495.2	NP_001180424.1:p.(Lys89Arg)	NC_000001.10:g.154573967T>C	(Likely) benign	2 labs	c60341e763
14:23888497 MYH7 C>G	14	23888497	23888497	C	G	MYH7	c.3861G>C	NM_000257.4	NP_000248.2:p.(Leu1287=)	NC_000014.8:g.23888497C>G	(Likely) benign	4 labs	c608d37907
6:51947999 PKHD1 G>A	6	51947999	51947999	G	A	PKHD1	c.107C>T	NM_138694.4	NP_619639.3:p.(Thr36Met)	NC_000006.11:g.51947999G>A	(Likely) pathogenic	5 labs	c60c182065
X:153649337 TAFAZZIN G>A	X	153649337	153649337	G	A	TAFAZZIN	c.873G>A	NM_000116.5	NP_000107.1:p.(Gly291=)	NC_000023.10:g.153649337G>A	(Likely) benign	6 labs	c60f07749c
8:144996727 PLEC C>G	8	144996727	144996727	C	G	PLEC	c.7451G>C	NM_000445.5	NP_000436.2:p.(Arg2484Pro)	NC_000008.10:g.144996727C>G	VUS	2 labs	c616b939b5
10:69908241 MYPN G>A	10	69908241	69908241	G	A	MYPN	c.1245+17G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69908241G>A	(Likely) benign	4 labs	c623a3378d
1:201334795 TNNT2 C>T	1	201334795	201334795	C	T	TNNT2	c.237G>A	NM_000364.4	NP_000355.2:p.(Ser79=)	NC_000001.10:g.201334795C>T	(Likely) benign	4 labs	c63883dedd
18:32457697 DTNA T>C	18	32457697	32457697	T	C	DTNA	c.1678T>C	NM_001198939.2	NP_001185868.1:p.(Leu560=)	NC_000018.9:g.32457697T>C	(Likely) benign	2 labs	c63ab09294
9:132580901 TOR1A C>G	9	132580901	132580901	C	G	TOR1A	c.646G>C	NM_000113.3	NP_000104.1:p.(Asp216His)	NC_000009.11:g.132580901C>G	(Likely) benign	3 labs	c63b1128e1
12:32977026 PKP2 C>T	12	32977026	32977026	C	T	PKP2	c.1759G>A	NM_004572.4	NP_004563.2:p.(Val587Ile)	NC_000012.11:g.32977026C>T	(Likely) benign	6 labs	c63ce457b4
7:117227854 CFTR G>A	7	117227854	117227854	G	A	CFTR	c.1646G>A	NM_000492.4	NP_000483.3:p.(Ser549Asn)	NC_000007.13:g.117227854G>A	(Likely) pathogenic	3 labs	c64472df61
12:33049492 PKP2 C>A	12	33049492	33049492	C	A	PKP2	c.174G>T	NM_004572.4	NP_004563.2:p.(Glu58Asp)	NC_000012.11:g.33049492C>A	(Likely) benign	6 labs	c65624f2c7
12:56398454 SUOX G>C	12	56398454	56398454	G	C	SUOX	c.1281G>C	NM_000456.3	NP_000447.2:p.(Ser427=)	NC_000012.11:g.56398454G>C	(Likely) benign	2 labs	c65d91bf1d
17:76129636 TMC8 T>C	17	76129636	76129636	T	C	TMC8	c.668+13T>C	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76129636T>C	(Likely) benign	2 labs	c6677920a8
6:112463333 LAMA4 G>A	6	112463333	112463333	G	A	LAMA4	c.2655C>T	NM_001105206.3	NP_001098676.2:p.(Leu885=)	NC_000006.11:g.112463333G>A	(Likely) benign	5 labs	c66b70105a
14:23885334 MYH7 G>A	14	23885334	23885334	G	A	MYH7	c.4832C>T	NM_000257.4	NP_000248.2:p.(Ala1611Val)	NC_000014.8:g.23885334G>A	VUS	2 labs	c66cfa0b6b
1:152281621 FLG T>C	1	152281621	152281621	T	C	FLG	c.5741A>G	NM_002016.2	NP_002007.1:p.(Gln1914Arg)	NC_000001.10:g.152281621T>C	(Likely) benign	2 labs	c686e0227c
7:94037534 COL1A2 G>A	7	94037534	94037534	G	A	COL1A2	c.679G>A	NM_000089.4	NP_000080.2:p.(Ala227Thr)	NC_000007.13:g.94037534G>A	(Likely) benign	2 labs	c691f5ad98
17:10304054 MYH8 C>A	17	10304054	10304054	C	A	MYH8	c.3388G>T	NM_002472.3	NP_002463.2:p.(Ala1130Ser)	NC_000017.10:g.10304054C>A	(Likely) benign	2 labs	c69630514d
10:67829159 CTNNA3 G>A	10	67829159	67829159	G	A	CTNNA3	c.2066C>T	NM_013266.4	NP_037398.2:p.(Ala689Val)	NC_000010.10:g.67829159G>A	VUS	3 labs	c6995fc407
2:179433807 TTN G>A	2	179433807	179433807	G	A	TTN	c.77052C>T	NM_001267550.2	NP_001254479.2:p.(Gly25684=)	NC_000002.11:g.179433807G>A	(Likely) benign	4 labs	c6a8ab5532
6:110146303 FIG4 G>A	6	110146303	110146303	G	A	FIG4	c.2559G>A	NM_014845.6	NP_055660.1:p.(Ser853=)	NC_000006.11:g.110146303G>A	(Likely) benign	4 labs	c6b9c8c541
19:11353833 DOCK6 A>G	19	11353833	11353833	A	G	DOCK6	c.1387-5T>C	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11353833A>G	(Likely) benign	2 labs	c6bbf93e76
12:49425575 KMT2D C>T	12	49425575	49425575	C	T	KMT2D	c.12913G>A	NM_003482.4	NP_003473.3:p.(Val4305Ile)	NC_000012.11:g.49425575C>T	(Likely) benign	2 labs	c6d9f50556
22:37499386 TMPRSS6 C>T	22	37499386	37499386	C	T	TMPRSS6	c.72G>A	NM_153609.4	NP_705837.2:p.(Pro24=)	NC_000022.10:g.37499386C>T	(Likely) benign	2 labs	c6df4d4e4c
18:28666627 DSC2 A>G	18	28666627	28666627	A	G	DSC2	c.854T>C	NM_004949.5	NP_004940.1:p.(Ile285Thr)	NC_000018.9:g.28666627A>G	VUS	4 labs	c6ef31faeb
13:32972279 BRCA2 C>T	13	32972279	32972279	C	T	BRCA2	c.9649-20C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972279C>T	(Likely) benign	5 labs	c6f08d3407
11:47362566 MYBPC3 C>T	11	47362566	47362566	C	T	MYBPC3	c.1915G>A	NM_000256.3	NP_000247.2:p.(Val639Ile)	NC_000011.9:g.47362566C>T	VUS	3 labs	c70a27709a
20:35569456 SAMHD1 C>T	20	35569456	35569456	C	T	SAMHD1	c.334G>A	NM_015474.4	NP_056289.2:p.(Val112Ile)	NC_000020.10:g.35569456C>T	(Likely) benign	2 labs	c716501a92
6:112575313 LAMA4 A>G	6	112575313	112575313	A	G	LAMA4	c.40T>C	NM_001105206.3	NP_001098676.2:p.(Trp14Arg)	NC_000006.11:g.112575313A>G	VUS	3 labs	c72527fbe2
19:11221289 LDLR C>T	19	11221289	11221289	C	T	LDLR	c.941-39C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221289C>T	(Likely) benign	2 labs	c72754ad9a
12:6143978 VWF C>T	12	6143978	6143978	C	T	VWF	c.2561G>A	NM_000552.5	NP_000543.3:p.(Arg854Gln)	NC_000012.11:g.6143978C>T	(Likely) pathogenic	4 labs	c7312f8164
19:54632423 PRPF31 T>C	19	54632423	54632423	T	C	PRPF31	c.1147-9T>C	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54632423T>C	(Likely) benign	2 labs	c7411efd02
13:32944557 BRCA2 C>T	13	32944557	32944557	C	T	BRCA2	c.8350C>T	NM_000059.4	NP_000050.3:p.(Arg2784Trp)	NC_000013.10:g.32944557C>T	(Likely) pathogenic	5 labs	c75c2e85d2
2:179430142 TTN C>T	2	179430142	179430142	C	T	TTN	c.80717G>A	NM_001267550.2	NP_001254479.2:p.(Arg26906Gln)	NC_000002.11:g.179430142C>T	VUS	5 labs	c75ca98683
19:46281745 DMPK A>G	19	46281745	46281745	A	G	DMPK	c.611+6T>C	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46281745A>G	(Likely) benign	2 labs	c75f3af008
18:25593772 CDH2 T>C	18	25593772	25593772	T	C	CDH2	c.274A>G	NM_001792.5	NP_001783.2:p.(Ser92Gly)	NC_000018.9:g.25593772T>C	(Likely) benign	2 labs	c7631dc260
12:2791132 CACNA1C A>G	12	2791132	2791132	A	G	CACNA1C	c.5605A>G	NM_199460.4	NP_955630.3:p.(Met1869Val)	NC_000012.11:g.2791132A>G	(Likely) benign	2 labs	c764952db7
2:21237438 APOB A>T	2	21237438	21237438	A	T	APOB	c.3724T>A	NM_000384.3	NP_000375.3:p.(Ser1242Thr)	NC_000002.11:g.21237438A>T	(Likely) benign	2 labs	c78cd61a7f
X:147030238 FMR1 C>G	X	147030238	147030238	C	G	FMR1	c.1773C>G	NM_002024.6	NP_002015.1:p.(His591Gln)	NC_000023.10:g.147030238C>G	VUS	2 labs	c79397f109
2:136558157 LCT C>T	2	136558157	136558157	C	T	LCT	c.4866+20G>A	NM_002299.4	NP_002290.2:p.?	NC_000002.11:g.136558157C>T	(Likely) benign	2 labs	c794750cb2
17:14005439 COX10 G>A	17	14005439	14005439	G	A	COX10	c.504G>A	NM_001303.4	NP_001294.2:p.(Leu168=)	NC_000017.10:g.14005439G>A	(Likely) benign	2 labs	c798019d00
19:40904602 PRX G>A	19	40904602	40904602	G	A	PRX	c.306C>T	NM_020956.2	NP_066007.1:p.(Thr102=)	NC_000019.9:g.40904602G>A	(Likely) benign	3 labs	c798165f79
17:7351934 CHRNB1 G>A	17	7351934	7351934	G	A	CHRNB1	c.647G>A	NM_000747.3	NP_000738.2:p.(Arg216Gln)	NC_000017.10:g.7351934G>A	VUS	3 labs	c7b078a368
11:70331576 SHANK2 C>T	11	70331576	70331576	C	T	SHANK2	c.4822G>A	NM_012309.5	NP_036441.2:p.(Val1608Ile)	NC_000011.9:g.70331576C>T	(Likely) benign	2 labs	c7bd566d2a
14:81610583 TSHR G>C	14	81610583	81610583	G	C	TSHR	c.2181G>C	NM_000369.5	NP_000360.2:p.(Glu727Asp)	NC_000014.8:g.81610583G>C	(Likely) benign	3 labs	c7c444eea9
19:7619760 PNPLA6 A>C	19	7619760	7619760	A	C	PNPLA6	c.2665-19A>C	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7619760A>C	(Likely) benign	2 labs	c7d38a9b52
7:56088780 PSPH G>A	7	56088780	56088780	G	A	PSPH	c.126C>T	NM_004577.4	NP_004568.2:p.(Asp42=)	NC_000007.13:g.56088780G>A	(Likely) benign	2 labs	c7d7b2a4c4
6:7576669 DSP C>T	6	7576669	7576669	C	T	DSP	c.2773C>T	NM_004415.4	NP_004406.2:p.(Arg925Trp)	NC_000006.11:g.7576669C>T	(Likely) benign	3 labs	c7e7d10cde
2:166915084 SCN1A G>C	2	166915084	166915084	G	C	SCN1A	c.379C>G	NM_001165963.4	NP_001159435.1:p.(His127Asp)	NC_000002.11:g.166915084G>C	VUS	2 labs	c7fd90cd97
7:154461112 DPP6 A>G	7	154461112	154461112	A	G	DPP6	c.531A>G	NM_001039350.3	NP_001034439.1:p.(Lys177=)	NC_000007.13:g.154461112A>G	(Likely) benign	3 labs	c7fffac005
7:94232654 SGCE CAT>C	7	94232654	94232656	CAT	C	SGCE	c.771_772del	NM_001099401.2	NP_001092871.1:p.(Cys258Ter)	NC_000007.13:g.94232655_94232656del	(Likely) pathogenic	2 labs	c812b3672c
2:20131184 WDR35 C>A	2	20131184	20131184	C	A	WDR35	c.2857-14G>T	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20131184C>A	(Likely) benign	3 labs	d9f82f1b11
2:179413791 TTN A>T	2	179413791	179413791	A	T	TTN	c.92562T>A	NM_001267550.2	NP_001254479.2:p.(Ile30854=)	NC_000002.11:g.179413791A>T	(Likely) benign	3 labs	c81d8ac12b
19:11233886 LDLR C>T	19	11233886	11233886	C	T	LDLR	c.2177C>T	NM_000527.5	NP_000518.1:p.(Thr726Ile)	NC_000019.9:g.11233886C>T	(Likely) benign	2 labs	c82057fc5b
16:81819751 PLCG2 G>A	16	81819751	81819751	G	A	PLCG2	c.157G>A	NM_002661.5	NP_002652.2:p.(Ala53Thr)	NC_000016.9:g.81819751G>A	VUS	3 labs	c823c4a67b
14:95562366 DICER1 A>C	14	95562366	95562366	A	C	DICER1	c.4891T>G	NM_177438.3	NP_803187.1:p.(Ser1631Ala)	NC_000014.8:g.95562366A>C	(Likely) benign	3 labs	c84aa54a97
17:17696755 RAI1 C>A	17	17696755	17696755	C	A	RAI1	c.493C>A	NM_030665.4	NP_109590.3:p.(Pro165Thr)	NC_000017.10:g.17696755C>A	(Likely) benign	2 labs	c85287d31c
20:62324513 RTEL1 C>T	20	62324513	62324513	C	T	RTEL1	c.2941C>T	NM_032957.5	NP_116575.3:p.(Arg981Trp)	NC_000020.10:g.62324513C>T	(Likely) pathogenic	3 labs	c861d0695e
4:16020162 PROM1 C>T	4	16020162	16020162	C	T	PROM1	c.759G>A	NM_001145847.2	NP_001139319.1:p.(Ala253=)	NC_000004.11:g.16020162C>T	(Likely) benign	2 labs	c868fade62
15:100672237 ADAMTS17 T>G	15	100672237	100672237	T	G	ADAMTS17	c.1696A>C	NM_139057.4	NP_620688.2:p.(Arg566=)	NC_000015.9:g.100672237T>G	(Likely) benign	2 labs	c86d6d4459
8:144990510 PLEC C>T	8	144990510	144990510	C	T	PLEC	c.13890G>A	NM_201380.4	NP_958782.1:p.(Ser4630=)	NC_000008.10:g.144990510C>T	(Likely) benign	4 labs	c873999881
12:49437785 KMT2D T>C	12	49437785	49437785	T	C	KMT2D	c.5189-4A>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49437785T>C	(Likely) benign	3 labs	c87b4645be
12:112036780 ATXN2 TGTTGC>T	12	112036780	112036785	TGTTGC	T	ATXN2	c.54_58del	NM_002973.4	NP_002964.4:p.(Gln19AlafsTer69)	NC_000012.11:g.112036781_112036785del	(Likely) benign	2 labs	c87d66286e
2:48033454 MSH6 T>A	2	48033454	48033454	T	A	MSH6	c.3758T>A	NM_000179.3	NP_000170.1:p.(Val1253Glu)	NC_000002.11:g.48033454T>A	VUS	2 labs	c88a451b89
9:137646170 COL5A1 C>T	9	137646170	137646170	C	T	COL5A1	c.1825C>T	NM_000093.5	NP_000084.3:p.(Arg609Trp)	NC_000009.11:g.137646170C>T	VUS	2 labs	c88b8e257d
X:595451 SHOX C>G	X	595451	595451	C	G	SHOX	c.376C>G	NM_000451.3	NP_000442.1:p.(Leu126Val)	NC_000023.10:g.595451C>G	VUS	3 labs	c88c417728
7:6037018 PMS2 T>TCTTCACACAC	7	6037018	6037019	T	TCTTCACACAC	PMS2	c.741_742insGTGTGTGAAG	NM_000535.7	NP_000526.2:p.(Ser248ValfsTer5)	NC_000007.13:g.6037018_6037019insCTTCACACAC	(Likely) pathogenic	3 labs	c88ddbf760
4:5743512 EVC T>C	4	5743512	5743512	T	C	EVC	c.772T>C	NM_153717.3	NP_714928.1:p.(Tyr258His)	NC_000004.11:g.5743512T>C	(Likely) benign	2 labs	c8b61cb471
6:112457471 LAMA4 G>A	6	112457471	112457471	G	A	LAMA4	c.3283-15C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112457471G>A	(Likely) benign	3 labs	c89a5ff9e8
1:74818948 TNNI3K A>T	1	74818948	74818948	A	T	TNNI3K	c.933-2A>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74818948A>T	VUS	2 labs	c8a5512541
16:89576947 SPG7 T>A	16	89576947	89576947	T	A	SPG7	c.233T>A	NM_003119.4	NP_003110.1:p.(Leu78Ter)	NC_000016.9:g.89576947T>A	(Likely) pathogenic	4 labs	c8aa1c7fb1
1:204159787 KISS1 G>C	1	204159787	204159787	G	C	KISS1	c.242C>G	NM_002256.4	NP_002247.3:p.(Pro81Arg)	NC_000001.10:g.204159787G>C	(Likely) benign	2 labs	c8b54a32e3
X:73744294 SLC16A2 C>T	X	73744294	73744294	C	T	SLC16A2	c.676C>T	NM_006517.5	NP_006508.2:p.(Arg226Cys)	NC_000023.10:g.73744294C>T	(Likely) benign	2 labs	c8ca70995e
10:68139122 CTNNA3 T>C	10	68139122	68139122	T	C	CTNNA3	c.1532-12A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68139122T>C	(Likely) benign	3 labs	c8cb27df33
17:41246721 BRCA1 G>C	17	41246721	41246721	G	C	BRCA1	c.827C>G	NM_007294.4	NP_009225.1:p.(Thr276Arg)	NC_000017.10:g.41246721G>C	(Likely) benign	3 labs	c8cbca8671
14:23857139 MYH6 G>A	14	23857139	23857139	G	A	MYH6	c.4360-7C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857139G>A	(Likely) benign	5 labs	c8d032e2f1
18:29126108 DSG2 T>G	18	29126108	29126108	T	G	DSG2	c.2759T>G	NM_001943.5	NP_001934.2:p.(Val920Gly)	NC_000018.9:g.29126108T>G	(Likely) benign	5 labs	c8dc97d70d
6:7556058 DSP G>A	6	7556058	7556058	G	A	DSP	c.273+5G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7556058G>A	VUS	4 labs	c8ef665bfb
3:48622175 COL7A1 C>G	3	48622175	48622175	C	G	COL7A1	c.4039G>C	NM_000094.3	NP_000085.1:p.(Gly1347Arg)	NC_000003.11:g.48622175C>G	(Likely) pathogenic	2 labs	c9000f597b
2:179641112 TTN C>A	2	179641112	179641112	C	A	TTN	c.5479G>T	NM_001267550.2	NP_001254479.2:p.(Ala1827Ser)	NC_000002.11:g.179641112C>A	(Likely) benign	6 labs	c90248090a
13:35733888 NBEA G>A	13	35733888	35733888	G	A	NBEA	c.3580G>A	NM_015678.5	NP_056493.3:p.(Val1194Ile)	NC_000013.10:g.35733888G>A	(Likely) benign	2 labs	c9083cc73c
10:112543157 RBM20 G>A	10	112543157	112543157	G	A	RBM20	c.1309G>A	NM_001134363.3	NP_001127835.2:p.(Ala437Thr)	NC_000010.10:g.112543157G>A	VUS	2 labs	c913a85f91
17:29553485 NF1 G>A	17	29553485	29553485	G	A	NF1	c.2034G>A	NM_000267.3	NP_000258.1:p.(Pro678=)	NC_000017.10:g.29553485G>A	(Likely) benign	3 labs	c917d8a337
1:8420197 RERE G>A	1	8420197	8420197	G	A	RERE	c.3370C>T	NM_012102.4	NP_036234.3:p.(Pro1124Ser)	NC_000001.10:g.8420197G>A	VUS	2 labs	c920264ee3
16:74750405 FA2H G>A	16	74750405	74750405	G	A	FA2H	c.879C>T	NM_024306.5	NP_077282.3:p.(Pro293=)	NC_000016.9:g.74750405G>A	(Likely) benign	4 labs	c922674595
16:3820723 CREBBP T>C	16	3820723	3820723	T	C	CREBBP	c.2728A>G	NM_004380.3	NP_004371.2:p.(Thr910Ala)	NC_000016.9:g.3820723T>C	(Likely) benign	6 labs	c9230172a9
1:156146218 SEMA4A C>T	1	156146218	156146218	C	T	SEMA4A	c.1716C>T	NM_022367.4	NP_071762.2:p.(Pro572=)	NC_000001.10:g.156146218C>T	(Likely) benign	2 labs	c928435777
19:6679511 C3 C>T	19	6679511	6679511	C	T	C3	c.4457-4G>A	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6679511C>T	(Likely) benign	2 labs	c92ba2b106
15:25584285 UBE3A T>C	15	25584285	25584285	T	C	UBE3A	c.2627A>G	NM_000462.5	NP_000453.2:p.(Ter876=)	NC_000015.9:g.25584285T>C	(Likely) benign	5 labs	c934996616
11:66482770 SPTBN2 T>C	11	66482770	66482770	T	C	SPTBN2	c.406A>G	NM_006946.4	NP_008877.2:p.(Met136Val)	NC_000011.9:g.66482770T>C	VUS	4 labs	c934c2f78a
15:63353451 TPM1 A>G	15	63353451	63353451	A	G	TPM1	c.618A>G	NM_001018006.2	NP_001018006.1:p.(Ala206=)	NC_000015.9:g.63353451A>G	(Likely) benign	6 labs	c938366546
X:123615807 TENM1 G>A	X	123615807	123615807	G	A	TENM1	c.3724C>T	NM_001163278.1	NP_001156750.1:p.(Pro1242Ser)	NC_000023.10:g.123615807G>A	(Likely) benign	2 labs	c9384220b2
15:44907562 SPG11 T>C	15	44907562	44907562	T	C	SPG11	c.3037A>G	NM_025137.4	NP_079413.3:p.(Lys1013Glu)	NC_000015.9:g.44907562T>C	(Likely) benign	4 labs	c94139df57
1:116283343 CASQ2 A>G	1	116283343	116283343	A	G	CASQ2	c.420+6T>C	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116283343A>G	(Likely) benign	4 labs	c949849cbc
2:179483575 TTN G>A	2	179483575	179483575	G	A	TTN	c.46702C>T	NM_001267550.2	NP_001254479.2:p.(Pro15568Ser)	NC_000002.11:g.179483575G>A	VUS	2 labs	c951198bfe
19:42776453 CIC C>T	19	42776453	42776453	C	T	CIC	c.518C>T	NM_001386298.1	NP_001373227.1:p.(Ala173Val)	NC_000019.9:g.42776453C>T	VUS	2 labs	c95c8eb849
12:52867190 KRT6C C>T	12	52867190	52867190	C	T	KRT6C	c.332G>A	NM_173086.5	NP_775109.2:p.(Gly111Asp)	NC_000012.11:g.52867190C>T	(Likely) benign	2 labs	c9803c64be
7:94038934 COL1A2 C>T	7	94038934	94038934	C	T	COL1A2	c.936+14C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038934C>T	(Likely) benign	2 labs	c9a0716339
19:38939408 RYR1 T>C	19	38939408	38939408	T	C	RYR1	c.1077T>C	NM_000540.3	NP_000531.2:p.(Ala359=)	NC_000019.9:g.38939408T>C	(Likely) benign	3 labs	c9a6729c8c
5:112154723 APC C>T	5	112154723	112154723	C	T	APC	c.994C>T	NM_000038.6	NP_000029.2:p.(Arg332Ter)	NC_000005.9:g.112154723C>T	(Likely) pathogenic	2 labs	c9c1b07d02
3:38647472 SCN5A C>T	3	38647472	38647472	C	T	SCN5A	c.1308G>A	NM_001099404.2	NP_001092874.1:p.(Glu436=)	NC_000003.11:g.38647472C>T	(Likely) benign	5 labs	c9c56c6a98
2:179454394 TTN A>G	2	179454394	179454394	A	G	TTN	c.62058T>C	NM_001267550.2	NP_001254479.2:p.(Tyr20686=)	NC_000002.11:g.179454394A>G	(Likely) benign	4 labs	c9cc727dd3
10:89720852 PTEN C>T	10	89720852	89720852	C	T	PTEN	c.1003C>T	NM_000314.8	NP_000305.3:p.(Arg335Ter)	NC_000010.10:g.89720852C>T	(Likely) pathogenic	5 labs	c9d0984ae2
4:77662231 SHROOM3 C>T	4	77662231	77662231	C	T	SHROOM3	c.2905C>T	NM_020859.4	NP_065910.3:p.(Arg969Trp)	NC_000004.11:g.77662231C>T	(Likely) benign	2 labs	c9d87e9125
14:23884292 MYH7 T>C	14	23884292	23884292	T	C	MYH7	c.5471A>G	NM_000257.4	NP_000248.2:p.(Asn1824Ser)	NC_000014.8:g.23884292T>C	VUS	3 labs	c9dea2bf0a
4:39233846 WDR19 C>A	4	39233846	39233846	C	A	WDR19	c.2207C>A	NM_025132.4	NP_079408.3:p.(Ala736Asp)	NC_000004.11:g.39233846C>A	VUS	2 labs	c9dfb519fd
12:122263155 SETD1B C>T	12	122263155	122263155	C	T	SETD1B	c.5220C>T	NM_001353345.2	NP_001340274.1:p.(Arg1740=)	NC_000012.11:g.122263155C>T	(Likely) benign	2 labs	c9e38fa19b
16:55523705 MMP2 T>C	16	55523705	55523705	T	C	MMP2	c.1149T>C	NM_004530.6	NP_004521.1:p.(Asp383=)	NC_000016.9:g.55523705T>C	(Likely) benign	2 labs	c9f73d8f64
15:72640388 HEXA C>T	15	72640388	72640388	C	T	HEXA	c.1073+1G>A	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72640388C>T	(Likely) pathogenic	3 labs	ca021f9702
6:33152835 COL11A2 A>T	6	33152835	33152835	A	T	COL11A2	c.877-4T>A	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33152835A>T	(Likely) benign	2 labs	ca04e8537d
13:110861785 COL4A1 C>G	13	110861785	110861785	C	G	COL4A1	c.616-11G>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110861785C>G	(Likely) benign	4 labs	ca0557e48d
19:12772090 MAN2B1 C>T	19	12772090	12772090	C	T	MAN2B1	c.1010G>A	NM_000528.4	NP_000519.2:p.(Arg337Gln)	NC_000019.9:g.12772090C>T	(Likely) benign	2 labs	ca0e4c62ce
2:38298150 CYP1B1 A>G	2	38298150	38298150	A	G	CYP1B1	c.1347T>C	NM_000104.4	NP_000095.2:p.(Asp449=)	NC_000002.11:g.38298150A>G	(Likely) benign	2 labs	ca0eae3e3d
6:110422931 WASF1 G>A	6	110422931	110422931	G	A	WASF1	c.1382C>T	NM_003931.3	NP_003922.1:p.(Thr461Ile)	NC_000006.11:g.110422931G>A	(Likely) benign	2 labs	ca207b622e
2:179594107 TTN G>C	2	179594107	179594107	G	C	TTN	c.18776C>G	NM_001267550.2	NP_001254479.2:p.(Thr6259Ser)	NC_000002.11:g.179594107G>C	(Likely) benign	6 labs	ca244918dc
3:38592885 SCN5A T>C	3	38592885	38592885	T	C	SCN5A	c.4978A>G	NM_198056.3	NP_932173.1:p.(Ile1660Val)	NC_000003.11:g.38592885T>C	(Likely) pathogenic	5 labs	ca2737f07f
9:2039776 SMARCA2 ACAGCAGCAGCAGCAG>A	9	2039776	2039817	ACAGCAGCAGCAGCAG	A	SMARCA2	c.693_707del	NM_003070.5	NP_003061.3:p.(Gln234_Gln238del)	NC_000009.11:g.2039803_2039817del	(Likely) benign	2 labs	ca2b567cff
5:13759007 DNAH5 G>A	5	13759007	13759007	G	A	DNAH5	c.10367C>T	NM_001369.3	NP_001360.1:p.(Ala3456Val)	NC_000005.9:g.13759007G>A	VUS	2 labs	ca33e20392
16:15818068 MYH11 G>C	16	15818068	15818068	G	C	MYH11	c.4336C>G	NM_001040113.2	NP_001035202.1:p.(Gln1446Glu)	NC_000016.9:g.15818068G>C	VUS	2 labs	ca4870e98f
4:1807370 FGFR3 A>C	4	1807370	1807370	A	C	FGFR3	c.1619A>C	NM_000142.5	NP_000133.1:p.(Asn540Thr)	NC_000004.11:g.1807370A>C	(Likely) pathogenic	5 labs	ca7940828b
9:135206460 SETX A>G	9	135206460	135206460	A	G	SETX	c.1077T>C	NM_015046.7	NP_055861.3:p.(Tyr359=)	NC_000009.11:g.135206460A>G	(Likely) benign	5 labs	ca7c9fd07f
4:16037352 PROM1 C>T	4	16037352	16037352	C	T	PROM1	c.277-2220G>A	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16037352C>T	(Likely) benign	2 labs	ca880d4617
14:23898465 MYH7 G>A	14	23898465	23898465	G	A	MYH7	c.1230C>T	NM_000257.4	NP_000248.2:p.(Tyr410=)	NC_000014.8:g.23898465G>A	(Likely) benign	4 labs	ca9316b6d2
15:75658862 MAN2C1 C>T	15	75658862	75658862	C	T	MAN2C1	c.422+1G>A	NM_001256494.2	NP_001243423.1:p.?	NC_000015.9:g.75658862C>T	(Likely) pathogenic	2 labs	ca9ee92bad
19:55666151 TNNI3 C>T	19	55666151	55666151	C	T	TNNI3	c.330G>A	NM_000363.5	NP_000354.4:p.(Glu110=)	NC_000019.9:g.55666151C>T	(Likely) benign	2 labs	caafdd0e88
2:1842968 MYT1L T>C	2	1842968	1842968	T	C	MYT1L	c.3027A>G	NM_015025.4	NP_055840.2:p.(Gly1009=)	NC_000002.11:g.1842968T>C	(Likely) benign	2 labs	cab06b6426
5:177031348 B4GALT7 T>C	5	177031348	177031348	T	C	B4GALT7	c.219T>C	NM_007255.3	NP_009186.1:p.(Arg73=)	NC_000005.9:g.177031348T>C	(Likely) benign	2 labs	cabb26fe73
5:70930966 MCCC2 A>G	5	70930966	70930966	A	G	MCCC2	c.904-12A>G	NM_022132.5	NP_071415.1:p.?	NC_000005.9:g.70930966A>G	(Likely) benign	3 labs	cade8f7614
9:138664787 KCNT1 C>T	9	138664787	138664787	C	T	KCNT1	c.2235C>T	NM_020822.3	NP_065873.2:p.(Ser745=)	NC_000009.11:g.138664787C>T	(Likely) benign	3 labs	cae063c3a4
22:42564685 TCF20 T>A	22	42564685	42564685	T	A	TCF20	c.5857A>T	NM_005650.4	NP_005641.1:p.(Ser1953Cys)	NC_000022.10:g.42564685T>A	(Likely) benign	2 labs	cae61d0a7b
11:108114792 ATM C>T	11	108114792	108114792	C	T	ATM	c.609C>T	NM_000051.4	NP_000042.3:p.(Asp203=)	NC_000011.9:g.108114792C>T	(Likely) benign	7 labs	caeb904b98
19:49686146 TRPM4 G>A	19	49686146	49686146	G	A	TRPM4	c.1575G>A	NM_017636.4	NP_060106.2:p.(Trp525Ter)	NC_000019.9:g.49686146G>A	(Likely) benign	3 labs	caf397ffe2
19:11231112 LDLR C>T	19	11231112	11231112	C	T	LDLR	c.2054C>T	NM_000527.5	NP_000518.1:p.(Pro685Leu)	NC_000019.9:g.11231112C>T	(Likely) pathogenic	2 labs	caf4d52063
2:15769801 DDX1 A>AT	2	15769801	15769802	A	AT	DDX1	c.1952dup	NM_004939.3	NP_004930.1:p.(Trp652MetfsTer10)	NC_000002.11:g.15769802dup	VUS	2 labs	cb0e13ba1b
2:179634391 TTN TA>T	2	179634391	179634392	TA	T	TTN	c.8902+14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634392del	(Likely) benign	5 labs	cb19527f7a
2:73677876 ALMS1 G>A	2	73677876	73677876	G	A	ALMS1	c.4225G>A	NM_015120.4	NP_055935.4:p.(Val1409Ile)	NC_000002.11:g.73677876G>A	(Likely) benign	3 labs	cb2f4669ea
13:110815878 COL4A1 G>A	13	110815878	110815878	G	A	COL4A1	c.4181C>T	NM_001845.6	NP_001836.3:p.(Pro1394Leu)	NC_000013.10:g.110815878G>A	VUS	2 labs	cb48da6ea7
14:23894580 MYH7 G>A	14	23894580	23894580	G	A	MYH7	c.2334C>T	NM_000257.4	NP_000248.2:p.(Asp778=)	NC_000014.8:g.23894580G>A	(Likely) benign	5 labs	cb4e2d978e
2:128180890 PROC C>A	2	128180890	128180890	C	A	PROC	c.441C>A	NM_000312.4	NP_000303.1:p.(Cys147Ter)	NC_000002.11:g.128180890C>A	(Likely) pathogenic	2 labs	cb58f08bdc
22:51160126 SHANK3 C>T	22	51160126	51160126	C	T	SHANK3	c.4090C>T	NM_001372044.2	NP_001358973.1:p.(Gln1364Ter)	NC_000022.10:g.51160126C>T	(Likely) pathogenic	2 labs	cb938c6229
20:57484598 GNAS C>T	20	57484598	57484598	C	T	GNAS	c.682C>T	NM_000516.7	NP_000507.1:p.(Arg228Cys)	NC_000020.10:g.57484598C>T	(Likely) pathogenic	2 labs	cb93e74f06
17:41226348 BRCA1 C>T	17	41226348	41226348	C	T	BRCA1	c.4675G>A	NM_007294.4	NP_009225.1:p.(Glu1559Lys)	NC_000017.10:g.41226348C>T	(Likely) pathogenic	2 labs	cb968ea959
2:240005942 HDAC4 C>T	2	240005942	240005942	C	T	HDAC4	c.2430-4G>A	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240005942C>T	(Likely) benign	2 labs	cb984b4d2a
2:179400061 TTN G>A	2	179400061	179400061	G	A	TTN	c.101281C>T	NM_001267550.2	NP_001254479.2:p.(Arg33761Trp)	NC_000002.11:g.179400061G>A	VUS	3 labs	cbb2170989
6:26091080 HFE C>A	6	26091080	26091080	C	A	HFE	c.88C>A	NM_000410.4	NP_000401.1:p.(Leu30Met)	NC_000006.11:g.26091080C>A	VUS	2 labs	cbb4fa873e
17:17697093 RAI1 CCAGCAGCAGCAGCAG>C	17	17697093	17697134	CCAGCAGCAGCAGCAG	C	RAI1	c.858_872del	NM_030665.4	NP_109590.3:p.(Gln287_Gln291del)	NC_000017.10:g.17697120_17697134del	(Likely) benign	2 labs	cbb9712221
1:103354428 COL11A1 A>G	1	103354428	103354428	A	G	COL11A1	c.4548T>C	NM_080629.3	NP_542196.2:p.(Gly1516=)	NC_000001.10:g.103354428A>G	(Likely) benign	2 labs	cbba48eb61
16:2121616 TSC2 A>T	16	2121616	2121616	A	T	TSC2	c.1945A>T	NM_000548.5	NP_000539.2:p.(Met649Leu)	NC_000016.9:g.2121616A>T	VUS	4 labs	cbbf9af034
2:179612960 TTN A>G	2	179612960	179612960	A	G	TTN	c.14167T>C	NM_133379.5	NP_596870.2:p.(Ser4723Pro)	NC_000002.11:g.179612960A>G	(Likely) benign	2 labs	cbbfb0243c
17:41276080 BRCA1 G>A	17	41276080	41276080	G	A	BRCA1	c.34C>T	NM_007294.4	NP_009225.1:p.(Gln12Ter)	NC_000017.10:g.41276080G>A	(Likely) pathogenic	3 labs	cbc23cf445
17:10446182 MYH2 C>T	17	10446182	10446182	C	T	MYH2	c.904+10G>A	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10446182C>T	(Likely) benign	3 labs	cbd10325e0
11:68131252 LRP5 G>A	11	68131252	68131252	G	A	LRP5	c.724G>A	NM_002335.4	NP_002326.2:p.(Ala242Thr)	NC_000011.9:g.68131252G>A	(Likely) pathogenic	3 labs	cbd155d8b6
11:117869854 IL10RA G>A	11	117869854	117869854	G	A	IL10RA	c.1235G>A	NM_001558.4	NP_001549.2:p.(Arg412Gln)	NC_000011.9:g.117869854G>A	(Likely) benign	3 labs	cbd93f037a
12:114793240 TBX5 C>T	12	114793240	114793240	C	T	TBX5	c.*97G>A	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114793240C>T	(Likely) benign	2 labs	cbe440f229
12:21370234 SLCO1B1 TTAAG>T	12	21370234	21370244	TTAAG	T	SLCO1B1	c.1682+4_1682+7del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370241_21370244del	VUS	2 labs	cbf91459a5
12:110017726 MVK T>C	12	110017726	110017726	T	C	MVK	c.346T>C	NM_000431.4	NP_000422.1:p.(Tyr116His)	NC_000012.11:g.110017726T>C	(Likely) pathogenic	2 labs	cc08fe4baf
14:88417095 GALC GA>G	14	88417095	88417106	GA	G	GALC	c.1162-4del	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88417106del	(Likely) benign	5 labs	cc0fd21e7f
14:23886707 MYH7 C>T	14	23886707	23886707	C	T	MYH7	c.4353+5G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886707C>T	VUS	2 labs	cc1c6e8ef1
14:78028803 SPTLC2 A>G	14	78028803	78028803	A	G	SPTLC2	c.786T>C	NM_004863.4	NP_004854.1:p.(Asn262=)	NC_000014.8:g.78028803A>G	(Likely) benign	2 labs	cc1dffbbba
7:104703826 KMT2E C>T	7	104703826	104703826	C	T	KMT2E	c.215C>T	NM_182931.3	NP_891847.1:p.(Pro72Leu)	NC_000007.13:g.104703826C>T	VUS	2 labs	cc2c9ba288
1:237608770 RYR2 C>T	1	237608770	237608770	C	T	RYR2	c.1240C>T	NM_001035.3	NP_001026.2:p.(Arg414Cys)	NC_000001.10:g.237608770C>T	VUS	2 labs	cc43857f86
13:32954049 BRCA2 C>G	13	32954049	32954049	C	G	BRCA2	c.9116C>G	NM_000059.4	NP_000050.3:p.(Pro3039Arg)	NC_000013.10:g.32954049C>G	(Likely) benign	3 labs	cc44932f01
1:26140411 SELENON C>T	1	26140411	26140411	C	T	SELENON	c.1427C>T	NM_020451.3	NP_065184.2:p.(Ser476Leu)	NC_000001.10:g.26140411C>T	VUS	4 labs	cc4895e62c
2:220283259 DES A>G	2	220283259	220283259	A	G	DES	c.75A>G	NM_001927.4	NP_001918.3:p.(Pro25=)	NC_000002.11:g.220283259A>G	(Likely) benign	4 labs	cc4ca784c8
11:68177614 LRP5 T>C	11	68177614	68177614	T	C	LRP5	c.2318+6T>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68177614T>C	(Likely) benign	4 labs	cc67bdb13f
1:237868582 RYR2 T>C	1	237868582	237868582	T	C	RYR2	c.9519T>C	NM_001035.3	NP_001026.2:p.(Thr3173=)	NC_000001.10:g.237868582T>C	(Likely) benign	3 labs	cc7adf7a44
22:50664612 TUBGCP6 A>G	22	50664612	50664612	A	G	TUBGCP6	c.1700T>C	NM_020461.4	NP_065194.3:p.(Leu567Ser)	NC_000022.10:g.50664612A>G	(Likely) benign	2 labs	cc7be0d3ad
6:32810794 PSMB8 T>A	6	32810794	32810794	T	A	PSMB8	c.208A>T	NM_004159.5	NP_004150.1:p.(Thr70Ser)	NC_000006.11:g.32810794T>A	(Likely) benign	2 labs	cc8b68afbb
1:97770920 DPYD C>T	1	97770920	97770920	C	T	DPYD	c.2194G>A	NM_000110.4	NP_000101.2:p.(Val732Ile)	NC_000001.10:g.97770920C>T	(Likely) benign	2 labs	cc8d0eab2d
15:90172600 KIF7 G>A	15	90172600	90172600	G	A	KIF7	c.3517+6C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90172600G>A	(Likely) benign	5 labs	cc943e3a7f
11:107992346 ACAT1 G>C	11	107992346	107992346	G	C	ACAT1	c.13G>C	NM_000019.4	NP_000010.1:p.(Ala5Pro)	NC_000011.9:g.107992346G>C	(Likely) benign	2 labs	cc9d67fd3f
2:179440005 TTN T>C	2	179440005	179440005	T	C	TTN	c.70854A>G	NM_001267550.2	NP_001254479.2:p.(Glu23618=)	NC_000002.11:g.179440005T>C	(Likely) benign	4 labs	cca89ca8cd
15:43290413 UBR1 T>G	15	43290413	43290413	T	G	UBR1	c.3710A>C	NM_174916.3	NP_777576.1:p.(Gln1237Pro)	NC_000015.9:g.43290413T>G	VUS	2 labs	ccada625a6
17:41243996 BRCA1 TC>T	17	41243996	41243998	TC	T	BRCA1	c.3551del	NM_007294.4	NP_009225.1:p.(Gly1184GlufsTer26)	NC_000017.10:g.41243998del	(Likely) pathogenic	3 labs	ccb35ade1c
20:42789053 JPH2 G>A	20	42789053	42789053	G	A	JPH2	c.380-6C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42789053G>A	(Likely) benign	6 labs	ccc1f71766
1:237890477 RYR2 G>A	1	237890477	237890477	G	A	RYR2	c.10816G>A	NM_001035.3	NP_001026.2:p.(Ala3606Thr)	NC_000001.10:g.237890477G>A	VUS	2 labs	ccc44e5618
X:153171993 AVPR2 A>G	X	153171993	153171993	A	G	AVPR2	c.927A>G	NM_000054.6	NP_000045.1:p.(Leu309=)	NC_000023.10:g.153171993A>G	(Likely) benign	2 labs	ccc64f1b07
X:31227692 DMD C>T	X	31227692	31227692	C	T	DMD	c.9117G>A	NM_004010.3	NP_004001.1:p.(Glu3039=)	NC_000023.10:g.31227692C>T	(Likely) benign	4 labs	ccc7e51145
7:128494563 FLNC G>T	7	128494563	128494563	G	T	FLNC	c.6824G>T	NM_001458.5	NP_001449.3:p.(Ser2275Ile)	NC_000007.13:g.128494563G>T	VUS	2 labs	ff5fc57956
9:328006 DOCK8 T>C	9	328006	328006	T	C	DOCK8	c.895-16T>C	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.328006T>C	(Likely) benign	2 labs	ccff6c0895
2:21232195 APOB G>A	2	21232195	21232195	G	A	APOB	c.7545C>T	NM_000384.3	NP_000375.3:p.(Thr2515=)	NC_000002.11:g.21232195G>A	(Likely) benign	2 labs	ccffa88f82
17:42085972 NAGS C>T	17	42085972	42085972	C	T	NAGS	c.*3C>T	NM_153006.3	NP_694551.1:p.?	NC_000017.10:g.42085972C>T	(Likely) benign	3 labs	cd054c16f2
11:19206570 CSRP3 C>T	11	19206570	19206570	C	T	CSRP3	c.437G>A	NM_003476.5	NP_003467.1:p.(Arg146His)	NC_000011.9:g.19206570C>T	VUS	3 labs	cd07029a4c
8:145737816 RECQL4 C>T	8	145737816	145737816	C	T	RECQL4	c.3014G>A	NM_004260.4	NP_004251.4:p.(Arg1005Gln)	NC_000008.10:g.145737816C>T	(Likely) benign	2 labs	cd07449eb8
7:6035245 PMS2 G>A	7	6035245	6035245	G	A	PMS2	c.823C>T	NM_000535.7	NP_000526.2:p.(Gln275Ter)	NC_000007.13:g.6035245G>A	(Likely) pathogenic	2 labs	cd0ed3a5b0
22:29130520 CHEK2 C>T	22	29130520	29130520	C	T	CHEK2	c.190G>A	NM_007194.4	NP_009125.1:p.(Glu64Lys)	NC_000022.10:g.29130520C>T	VUS	5 labs	cd16ca48cf
10:104157727 NFKB2 C>T	10	104157727	104157727	C	T	NFKB2	c.662-11C>T	NM_001288724.1	NP_001275653.1:p.?	NC_000010.10:g.104157727C>T	(Likely) benign	2 labs	cd1c824573
6:7542274 DSP T>C	6	7542274	7542274	T	C	DSP	c.126T>C	NM_004415.4	NP_004406.2:p.(Tyr42=)	NC_000006.11:g.7542274T>C	(Likely) benign	5 labs	cd1e0dc3ac
12:40713834 LRRK2 C>A	12	40713834	40713834	C	A	LRRK2	c.4872C>A	NM_198578.4	NP_940980.4:p.(Gly1624=)	NC_000012.11:g.40713834C>A	(Likely) benign	3 labs	cd30c7bd2f
1:227073323 PSEN2 C>T	1	227073323	227073323	C	T	PSEN2	c.441C>T	NM_000447.3	NP_000438.2:p.(Ser147=)	NC_000001.10:g.227073323C>T	(Likely) benign	2 labs	cd3cb8f630
20:31374332 DNMT3B G>A	20	31374332	31374332	G	A	DNMT3B	c.331G>A	NM_006892.3	NP_008823.1:p.(Val111Ile)	NC_000020.10:g.31374332G>A	(Likely) benign	2 labs	340564062f
16:89357412 ANKRD11 C>T	16	89357412	89357412	C	T	ANKRD11	c.397+9G>A	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89357412C>T	(Likely) benign	2 labs	340879dbb8
X:19555842 SH3KBP1 C>T	X	19555842	19555842	C	T	SH3KBP1	c.2024G>A	NM_001353891.2	NP_001340820.1:p.(Arg675Gln)	NC_000023.10:g.19555842C>T	(Likely) benign	2 labs	340cad289c
2:20189045 WDR35 T>C	2	20189045	20189045	T	C	WDR35	c.25-2A>G	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20189045T>C	(Likely) pathogenic	3 labs	341b0256dc
2:44041645 ABCG5 T>C	2	44041645	44041645	T	C	ABCG5	c.1733A>G	NM_022436.3	NP_071881.1:p.(Asn578Ser)	NC_000002.11:g.44041645T>C	VUS	2 labs	cd4107f58c
2:216271242 FN1 CAA>C	2	216271242	216271244	CAA	C	FN1	c.2714-11_2714-10del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216271243_216271244del	(Likely) benign	2 labs	3441aeb635
2:166179779 SCN2A T>C	2	166179779	166179779	T	C	SCN2A	c.1785T>C	NM_021007.3	NP_066287.2:p.(Asp595=)	NC_000002.11:g.166179779T>C	(Likely) benign	2 labs	3441e28b3d
1:40756542 ZMPSTE24 G>GT	1	40756542	40756551	G	GT	ZMPSTE24	c.1085dup	NM_005857.5	NP_005848.2:p.(Leu362PhefsTer19)	NC_000001.10:g.40756551dup	(Likely) pathogenic	3 labs	3484db9f99
17:19552312 ALDH3A2 C>G	17	19552312	19552312	C	G	ALDH3A2	c.28C>G	NM_001031806.2	NP_001026976.1:p.(Gln10Glu)	NC_000017.10:g.19552312C>G	(Likely) benign	4 labs	349fd65c85
8:61655009 CHD7 A>G	8	61655009	61655009	A	G	CHD7	c.1018A>G	NM_017780.4	NP_060250.2:p.(Met340Val)	NC_000008.10:g.61655009A>G	(Likely) benign	4 labs	349259cd94
3:119204198 POGLUT1 A>G	3	119204198	119204198	A	G	POGLUT1	c.602A>G	NM_152305.3	NP_689518.1:p.(Lys201Arg)	NC_000003.11:g.119204198A>G	(Likely) benign	2 labs	34a1eaf83c
8:41525914 ANK1 C>T	8	41525914	41525914	C	T	ANK1	c.5388G>A	NM_001142446.2	NP_001135918.1:p.(Val1796=)	NC_000008.10:g.41525914C>T	(Likely) benign	2 labs	34a7b38a3d
11:4104556 STIM1 G>A	11	4104556	4104556	G	A	STIM1	c.1302G>A	NM_001277961.1	NP_001264890.1:p.(Glu434=)	NC_000011.9:g.4104556G>A	(Likely) benign	2 labs	34c9a17cdb
11:85365183 TMEM126A C>T	11	85365183	85365183	C	T	TMEM126A	c.163C>T	NM_032273.4	NP_115649.1:p.(Arg55Ter)	NC_000011.9:g.85365183C>T	(Likely) pathogenic	3 labs	34f1622c64
11:118376740 KMT2A T>C	11	118376740	118376740	T	C	KMT2A	c.10133T>C	NM_001197104.1	NP_001184033.1:p.(Ile3378Thr)	NC_000011.9:g.118376740T>C	(Likely) benign	2 labs	350c7d4152
4:5803735 EVC G>A	4	5803735	5803735	G	A	EVC	c.2363G>A	NM_153717.3	NP_714928.1:p.(Arg788His)	NC_000004.11:g.5803735G>A	(Likely) benign	2 labs	350cc016bb
3:47037985 NBEAL2 G>A	3	47037985	47037985	G	A	NBEAL2	c.2376G>A	NM_015175.2	NP_055990.1:p.(Arg792=)	NC_000003.11:g.47037985G>A	(Likely) benign	2 labs	3555aebe2c
2:1946914 MYT1L A>G	2	1946914	1946914	A	G	MYT1L	c.345T>C	NM_015025.4	NP_055840.2:p.(Asp115=)	NC_000002.11:g.1946914A>G	(Likely) benign	2 labs	cd4f31bffd
11:118365075 KMT2A A>T	11	118365075	118365075	A	T	KMT2A	c.5251A>T	NM_001197104.2	NP_001184033.1:p.(Lys1751Ter)	NC_000011.9:g.118365075A>T	(Likely) pathogenic	3 labs	356a9c4985
6:51524705 PKHD1 G>A	6	51524705	51524705	G	A	PKHD1	c.10219C>T	NM_138694.4	NP_619639.3:p.(Gln3407Ter)	NC_000006.11:g.51524705G>A	(Likely) pathogenic	3 labs	358ab68609
4:186444604 PDLIM3 GAAATA>G	4	186444604	186444618	GAAATA	G	PDLIM3	c.246-9_246-5del	NM_014476.6	NP_055291.2:p.?	NC_000004.11:g.186444614_186444618del	(Likely) benign	2 labs	358d7c7892
X:135092595 SLC9A6 C>T	X	135092595	135092595	C	T	SLC9A6	c.900-6C>T	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135092595C>T	(Likely) benign	2 labs	35bda722bc
16:3304573 MEFV G>T	16	3304573	3304573	G	T	MEFV	c.495C>A	NM_000243.3	NP_000234.1:p.(Ala165=)	NC_000016.9:g.3304573G>T	(Likely) benign	2 labs	35c39038e0
10:99371344 HOGA1 C>A	10	99371344	99371344	C	A	HOGA1	c.912C>A	NM_138413.4	NP_612422.2:p.(Ala304=)	NC_000010.10:g.99371344C>A	(Likely) benign	2 labs	cd500a8672
2:179542464 TTN G>A	2	179542464	179542464	G	A	TTN	c.34175C>T	NM_001267550.1	NP_001254479.1:p.(Pro11392Leu)	NC_000002.11:g.179542464G>A	(Likely) benign	2 labs	35d67c889b
4:155487136 FGB C>T	4	155487136	155487136	C	T	FGB	c.291C>T	NM_005141.4	NP_005132.2:p.(His97=)	NC_000004.11:g.155487136C>T	(Likely) benign	2 labs	35e1fda48a
18:19379886 MIB1 A>C	18	19379886	19379886	A	C	MIB1	c.1322A>C	NM_020774.4	NP_065825.1:p.(Asn441Thr)	NC_000018.9:g.19379886A>C	VUS	4 labs	35f96c9a07
16:2166011 PKD1 G>A	16	2166011	2166011	G	A	PKD1	c.1831C>T	NM_001009944.2	NP_001009944.2:p.(Arg611Trp)	NC_000016.9:g.2166011G>A	(Likely) pathogenic	2 labs	360544684c
7:128482625 FLNC G>A	7	128482625	128482625	G	A	FLNC	c.2266-4G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128482625G>A	(Likely) benign	2 labs	361f703a8d
8:143956693 CYP11B1 G>A	8	143956693	143956693	G	A	CYP11B1	c.1157C>T	NM_000497.3	NP_000488.3:p.(Ala386Val)	NC_000008.10:g.143956693G>A	(Likely) benign	2 labs	363151ea70
6:158565416 SERAC1 G>A	6	158565416	158565416	G	A	SERAC1	c.524C>T	NM_032861.4	NP_116250.3:p.(Pro175Leu)	NC_000006.11:g.158565416G>A	(Likely) benign	2 labs	3644139b78
2:179440042 TTN A>G	2	179440042	179440042	A	G	TTN	c.63113T>C	NM_133378.4	NP_596869.4:p.(Met21038Thr)	NC_000002.11:g.179440042A>G	VUS	3 labs	3656dfa276
16:3293896 MEFV C>T	16	3293896	3293896	C	T	MEFV	c.1298G>A	NM_001198536.2	NP_001185465.2:p.(Arg433His)	NC_000016.9:g.3293896C>T	(Likely) benign	2 labs	3677c0ca80
10:112404347 RBM20 GCCGCCGCCCCAGCCACCGCCC>G	10	112404347	112404373	GCCGCCGCCCCAGCCACCGCCC	G	RBM20	c.141_161del	NM_001134363.3	NP_001127835.2:p.(Pro48_Pro54del)	NC_000010.10:g.112404353_112404373del	VUS	2 labs	366b80ede0
2:73679736 ALMS1 T>C	2	73679736	73679736	T	C	ALMS1	c.6085T>C	NM_015120.4	NP_055935.4:p.(Ser2029Pro)	NC_000002.11:g.73679736T>C	(Likely) benign	2 labs	3683d4cb57
16:85952145 IRF8 T>C	16	85952145	85952145	T	C	IRF8	c.724T>C	NM_002163.4	NP_002154.1:p.(Tyr242His)	NC_000016.9:g.85952145T>C	(Likely) benign	3 labs	369c7880a0
2:128050332 ERCC3 G>A	2	128050332	128050332	G	A	ERCC3	c.133C>T	NM_001303418.2	NP_001290347.1:p.(Arg45Ter)	NC_000002.11:g.128050332G>A	(Likely) pathogenic	2 labs	36b3ee0e49
15:99460005 IGF1R G>A	15	99460005	99460005	G	A	IGF1R	c.2101G>A	NM_000875.5	NP_000866.1:p.(Ala701Thr)	NC_000015.9:g.99460005G>A	VUS	2 labs	cd57159e1f
2:166897989 SCN1A GA>G	2	166897989	166898003	GA	G	SCN1A	c.2177-11del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166898003del	(Likely) benign	2 labs	36c4001032
16:56913505 SLC12A3 G>A	16	56913505	56913505	G	A	SLC12A3	c.1387G>A	NM_000339.3	NP_000330.3:p.(Gly463Arg)	NC_000016.9:g.56913505G>A	(Likely) pathogenic	2 labs	36dfaff837
19:11548793 PRKCSH G>C	19	11548793	11548793	G	C	PRKCSH	c.292+1G>C	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11548793G>C	(Likely) pathogenic	3 labs	36fdc68920
2:241684840 KIF1A G>A	2	241684840	241684840	G	A	KIF1A	c.3465+4C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241684840G>A	(Likely) benign	3 labs	36f69f196f
7:117234995 CFTR T>G	7	117234995	117234995	T	G	CFTR	c.2502T>G	NM_000492.4	NP_000483.3:p.(Phe834Leu)	NC_000007.13:g.117234995T>G	(Likely) benign	2 labs	371adbb679
1:120572572 NOTCH2 C>T	1	120572572	120572572	C	T	NOTCH2	c.112G>A	NM_024408.4	NP_077719.2:p.(Glu38Lys)	NC_000001.10:g.120572572C>T	(Likely) benign	2 labs	3724b63065
19:7120775 INSR G>T	19	7120775	7120775	G	T	INSR	c.3530-15C>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7120775G>T	(Likely) benign	2 labs	3720beaf81
X:152954025 SLC6A8 A>G	X	152954025	152954025	A	G	SLC6A8	c.-5A>G	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152954025A>G	(Likely) benign	3 labs	373dd8d116
3:10183681 VHL C>G	3	10183681	10183681	C	G	VHL	c.150C>G	NM_000551.4	NP_000542.1:p.(Ala50=)	NC_000003.11:g.10183681C>G	(Likely) benign	3 labs	37473d33a7
1:156105961 LMNA C>T	1	156105961	156105961	C	T	LMNA				NC_000001.10:g.156105961C>T	(Likely) benign	2 labs	3753e202f1
2:71163111 ATP6V1B1 T>C	2	71163111	71163111	T	C	ATP6V1B1	c.27T>C	NM_001692.4	NP_001683.2:p.(Pro9=)	NC_000002.11:g.71163111T>C	(Likely) benign	2 labs	377e808a10
16:2147518 PKD1 G>A	16	2147518	2147518	G	A	PKD1	c.10221-14C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2147518G>A	(Likely) benign	2 labs	3789482777
18:55362532 ATP8B1 T>G	18	55362532	55362532	T	G	ATP8B1	c.811A>C	NM_005603.6	NP_005594.2:p.(Arg271=)	NC_000018.9:g.55362532T>G	(Likely) benign	3 labs	37d5391607
2:179611747 TTN G>A	2	179611747	179611747	G	A	TTN	c.15380C>T	NM_133379.5	NP_596870.2:p.(Thr5127Ile)	NC_000002.11:g.179611747G>A	VUS	2 labs	37c3010726
17:78079544 GAA C>G	17	78079544	78079544	C	G	GAA	c.547-4C>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78079544C>G	(Likely) benign	3 labs	37e0f846bc
7:91830711 KRIT1 AC>A	7	91830711	91830713	AC	A	KRIT1	c.2051del	NM_004912.4	NP_004903.2:p.(Gly684ValfsTer23)	NC_000007.13:g.91830713del	(Likely) pathogenic	2 labs	37ef38fe08
X:47061551 UBA1 G>A	X	47061551	47061551	G	A	UBA1	c.812-4G>A	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47061551G>A	(Likely) benign	2 labs	37fea307de
12:6128562 VWF C>T	12	6128562	6128562	C	T	VWF	c.4022G>A	NM_000552.4	NP_000543.2:p.(Arg1341Gln)	NC_000012.11:g.6128562C>T	(Likely) pathogenic	2 labs	380c441e6a
22:19747128 TBX1 C>T	22	19747128	19747128	C	T	TBX1	c.-39C>T	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19747128C>T	(Likely) benign	3 labs	38146e522c
6:117198661 RFX6 G>C	6	117198661	117198661	G	C	RFX6	c.223G>C	NM_173560.4	NP_775831.2:p.(Glu75Gln)	NC_000006.11:g.117198661G>C	(Likely) benign	2 labs	cd5abf4cd7
1:235597525 TBCE C>T	1	235597525	235597525	C	T	TBCE	c.667C>T	NM_001079515.2	NP_001072983.1:p.(Arg223Trp)	NC_000001.10:g.235597525C>T	(Likely) benign	2 labs	3834fe677c
11:32449624 WT1 C>A	11	32449624	32449624	C	A	WT1	c.785-20G>T	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32449624C>A	(Likely) benign	2 labs	38557746d3
5:126667126 MEGF10 T>C	5	126667126	126667126	T	C	MEGF10	c.116+10T>C	NM_032446.3	NP_115822.1:p.?	NC_000005.9:g.126667126T>C	(Likely) benign	2 labs	386385aa38
6:52317741 EFHC1 C>T	6	52317741	52317741	C	T	EFHC1	c.723+106C>T	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52317741C>T	(Likely) benign	2 labs	386f16c228
2:73677882 ALMS1 G>C	2	73677882	73677882	G	C	ALMS1	c.4231G>C	NM_015120.4	NP_055935.4:p.(Ala1411Pro)	NC_000002.11:g.73677882G>C	(Likely) benign	4 labs	38779dc82f
10:73103960 SLC29A3 T>C	10	73103960	73103960	T	C	SLC29A3	c.301-6T>C	NM_018344.6	NP_060814.4:p.?	NC_000010.10:g.73103960T>C	(Likely) benign	2 labs	3871afdb44
3:49169782 LAMB2 G>A	3	49169782	49169782	G	A	LAMB2	c.306C>T	NM_002292.4	NP_002283.3:p.(Asn102=)	NC_000003.11:g.49169782G>A	(Likely) benign	3 labs	3871cc0672
7:154667673 DPP6 G>A	7	154667673	154667673	G	A	DPP6	c.1941G>A	NM_130797.4	NP_570629.2:p.(Thr647=)	NC_000007.13:g.154667673G>A	(Likely) benign	2 labs	3868d3e374
11:64572018 MEN1 T>C	11	64572018	64572018	T	C	MEN1	c.1636=	NM_130803.2	NP_570715.1:p.(Ala546=)	NC_000011.9:g.64572018T>C	(Likely) benign	2 labs	38866ad745
1:16377408 CLCNKB C>T	1	16377408	16377408	C	T	CLCNKB	c.1092C>T	NM_000085.4	NP_000076.2:p.(Asn364=)	NC_000001.10:g.16377408C>T	(Likely) benign	2 labs	388739a2ef
16:23360165 SCNN1B C>G	16	23360165	23360165	C	G	SCNN1B	c.245C>G	NM_000336.3	NP_000327.2:p.(Ser82Cys)	NC_000016.9:g.23360165C>G	(Likely) benign	2 labs	389f1c1912
9:137721815 COL5A1 T>C	9	137721815	137721815	T	C	COL5A1	c.5068-7T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137721815T>C	(Likely) benign	2 labs	38cf2f9cc7
13:52548140 ATP7B A>C	13	52548140	52548140	A	C	ATP7B	c.1216T>G	NM_000053.4	NP_000044.2:p.(Ser406Ala)	NC_000013.10:g.52548140A>C	(Likely) benign	5 labs	cd6296b21e
X:63413082 AMER1 C>T	X	63413082	63413082	C	T	AMER1	c.85G>A	NM_152424.4	NP_689637.3:p.(Ala29Thr)	NC_000023.10:g.63413082C>T	(Likely) benign	2 labs	38e0f854c9
3:49547839 DAG1 C>CT	3	49547839	49547848	C	CT	DAG1	c.-116-4dup	NM_004393.6	NP_004384.5:p.?	NC_000003.11:g.49547848dup	(Likely) benign	2 labs	38eac66257
6:152708358 SYNE1 A>C	6	152708358	152708358	A	C	SYNE1	c.8336T>G	NM_182961.4	NP_892006.3:p.(Ile2779Ser)	NC_000006.11:g.152708358A>C	(Likely) benign	2 labs	38fa5dda08
12:6100971 VWF G>A	12	6100971	6100971	G	A	VWF	c.6798+14C>T	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6100971G>A	(Likely) benign	2 labs	390b5aae42
2:166895913 SCN1A CTTT>C	2	166895913	166895930	CTTT	C	SCN1A	c.2589+17_2589+19del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166895928_166895930del	(Likely) benign	2 labs	391d4ba753
10:72192715 NODAL C>T	10	72192715	72192715	C	T	NODAL	c.1021G>A	NM_018055.5	NP_060525.3:p.(Val341Met)	NC_000010.10:g.72192715C>T	VUS	3 labs	3947ae9c77
11:62383715 B3GAT3 GA>G	11	62383715	62383730	GA	G	B3GAT3	c.910-4del	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383730del	(Likely) benign	3 labs	3983519e02
4:57333820 SRP72 G>T	4	57333820	57333820	G	T	SRP72	c.19G>T	NM_006947.4	NP_008878.3:p.(Gly7Trp)	NC_000004.11:g.57333820G>T	(Likely) benign	2 labs	398dde2d91
17:62043834 SCN4A C>T	17	62043834	62043834	C	T	SCN4A	c.1100+7G>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62043834C>T	(Likely) benign	3 labs	399013eefb
8:145700381 FOXH1 C>G	8	145700381	145700381	C	G	FOXH1	c.338G>C	NM_003923.3	NP_003914.1:p.(Ser113Thr)	NC_000008.10:g.145700381C>G	(Likely) benign	3 labs	39a01e9cd1
6:52319050 EFHC1 G>A	6	52319050	52319050	G	A	EFHC1	c.881G>A	NM_018100.4	NP_060570.2:p.(Arg294His)	NC_000006.11:g.52319050G>A	(Likely) benign	2 labs	39a84c99c0
17:42152789 G6PC3 C>T	17	42152789	42152789	C	T	G6PC3	c.647C>T	NM_138387.3	NP_612396.1:p.(Thr216Ile)	NC_000017.10:g.42152789C>T	(Likely) benign	2 labs	39a3ecb20a
2:25384152 POMC G>A	2	25384152	25384152	G	A	POMC	c.602C>T	NM_001035256.3	NP_001030333.1:p.(Ala201Val)	NC_000002.11:g.25384152G>A	(Likely) benign	2 labs	399da2cdc2
3:38608005 SCN5A C>T	3	38608005	38608005	C	T	SCN5A	c.3735G>A	NM_001099404.1	NP_001092874.1:p.(Met1245Ile)	NC_000003.11:g.38608005C>T	(Likely) benign	2 labs	39ccd0859c
2:167138320 SCN9A T>TA	2	167138320	167138330	T	TA	SCN9A	c.1942-3dup	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138330dup	(Likely) benign	3 labs	39febc5bdd
11:128709137 KCNJ1 A>AG	11	128709137	128709141	A	AG	KCNJ1	c.1058dup	NM_000220.6	NP_000211.1:p.(His354SerfsTer8)	NC_000011.9:g.128709141dup	(Likely) pathogenic	2 labs	39e7f0e66c
19:36336572 NPHS1 T>C	19	36336572	36336572	T	C	NPHS1	c.1756A>G	NM_004646.3	NP_004637.1:p.(Arg586Gly)	NC_000019.9:g.36336572T>C	(Likely) pathogenic	2 labs	39ecce54b5
11:2592569 KCNQ1 G>A	11	2592569	2592569	G	A	KCNQ1	c.619G>A	NM_000218.3	NP_000209.2:p.(Val207Met)	NC_000011.9:g.2592569G>A	(Likely) benign	2 labs	39f5396b75
10:90701645 ACTA2 A>G	10	90701645	90701645	A	G	ACTA2	c.370-19T>C	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90701645A>G	(Likely) benign	3 labs	cd742aa63c
11:103024028 DYNC2H1 A>G	11	103024028	103024028	A	G	DYNC2H1	c.3097-4A>G	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103024028A>G	(Likely) benign	2 labs	3a0f8c8ac5
9:98238379 PTCH1 A>G	9	98238379	98238379	A	G	PTCH1	c.1665T>C	NM_000264.3	NP_000255.2:p.(Asn555=)	NC_000009.11:g.98238379A>G	(Likely) benign	2 labs	3a42a17fb6
5:149754991 TCOF1 C>T	5	149754991	149754991	C	T	TCOF1	c.1578C>T	NM_001135243.1	NP_001128715.1:p.(Pro526=)	NC_000005.9:g.149754991C>T	(Likely) benign	2 labs	3a45a2eeb0
19:6710860 C3 G>T	19	6710860	6710860	G	T	C3	c.1480-4C>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6710860G>T	(Likely) benign	2 labs	3a8a9b3f59
14:23898246 MYH7 C>T	14	23898246	23898246	C	T	MYH7	c.1325G>A	NM_000257.4	NP_000248.2:p.(Arg442His)	NC_000014.8:g.23898246C>T	(Likely) pathogenic	3 labs	3a92ab07c3
10:95791763 PLCE1 G>A	10	95791763	95791763	G	A	PLCE1	c.960G>A	NM_016341.4	NP_057425.3:p.(Glu320=)	NC_000010.10:g.95791763G>A	(Likely) benign	3 labs	3ab2791aca
11:47353626 MYBPC3 G>A	11	47353626	47353626	G	A	MYBPC3	c.3811C>T	NM_000256.3	NP_000247.2:p.(Arg1271Ter)	NC_000011.9:g.47353626G>A	(Likely) pathogenic	2 labs	3abde49f28
11:108216571 ATM G>C	11	108216571	108216571	G	C	ATM	c.8520G>C	NM_001351834.2	NP_001338763.1:p.(Leu2840Phe)	NC_000011.9:g.108216571G>C	VUS	3 labs	cd7ab2a461
2:179439257 TTN G>A	2	179439257	179439257	G	A	TTN	c.71602C>T	NM_001267550.2	NP_001254479.2:p.(Arg23868Ter)	NC_000002.11:g.179439257G>A	(Likely) pathogenic	2 labs	3ae024a003
3:189507518 TP63 C>CAG	3	189507518	189507519	C	CAG	TP63	c.-72_-71insAG	NM_001114980.2	NP_001108452.1:p.?	NC_000003.11:g.189507518_189507519insAG	(Likely) benign	2 labs	3af6aafad9
2:179408016 TTN G>A	2	179408016	179408016	G	A	TTN	c.96684C>T	NM_001267550.2	NP_001254479.2:p.(Tyr32228=)	NC_000002.11:g.179408016G>A	(Likely) benign	3 labs	3af9801bd4
13:32911418 BRCA2 T>A	13	32911418	32911418	T	A	BRCA2	c.2926T>A	NM_000059.4	NP_000050.3:p.(Ser976Thr)	NC_000013.10:g.32911418T>A	(Likely) benign	4 labs	3b0003d707
16:1269029 CACNA1H T>C	16	1269029	1269029	T	C	CACNA1H	c.5947T>C	NM_021098.3	NP_066921.2:p.(Leu1983=)	NC_000016.9:g.1269029T>C	(Likely) benign	2 labs	3b47ce58d6
13:32953610 BRCA2 A>T	13	32953610	32953610	A	T	BRCA2	c.8911A>T	NM_000059.4	NP_000050.3:p.(Lys2971Ter)	NC_000013.10:g.32953610A>T	(Likely) pathogenic	2 labs	3b508ab3f2
1:78383674 NEXN G>A	1	78383674	78383674	G	A	NEXN	c.249G>A	NM_144573.4	NP_653174.3:p.(Glu83=)	NC_000001.10:g.78383674G>A	(Likely) benign	2 labs	3b5e95cd8d
13:52534283 ATP7B C>A	13	52534283	52534283	C	A	ATP7B	c.2121+1G>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52534283C>A	(Likely) pathogenic	2 labs	3b76b62d43
16:56913513 SLC12A3 C>T	16	56913513	56913513	C	T	SLC12A3	c.1395C>T	NM_000339.3	NP_000330.3:p.(Thr465=)	NC_000016.9:g.56913513C>T	(Likely) benign	2 labs	3b779db940
19:6713399 C3 C>T	19	6713399	6713399	C	T	C3	c.876+19G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6713399C>T	(Likely) benign	2 labs	3b99d01bf2
7:6022521 PMS2 G>A	7	6022521	6022521	G	A	PMS2	c.2108C>T	NM_000535.5	NP_000526.1:p.(Thr703Met)	NC_000007.13:g.6022521G>A	VUS	2 labs	3bae2afb38
14:103342049 TRAF3 T>C	14	103342049	103342049	T	C	TRAF3	c.386T>C	NM_003300.4	NP_003291.2:p.(Met129Thr)	NC_000014.8:g.103342049T>C	(Likely) benign	2 labs	3bc03cf881
1:237730032 RYR2 A>G	1	237730032	237730032	A	G	RYR2	c.3380A>G	NM_001035.3	NP_001026.2:p.(Glu1127Gly)	NC_000001.10:g.237730032A>G	(Likely) benign	5 labs	cd9a3416e8
19:40900428 PRX G>C	19	40900428	40900428	G	C	PRX	c.3831C>G	NM_181882.3	NP_870998.2:p.(Pro1277=)	NC_000019.9:g.40900428G>C	(Likely) benign	2 labs	3bccc7ff3d
4:79300899 FRAS1 T>C	4	79300899	79300899	T	C	FRAS1	c.3312T>C	NM_025074.7	NP_079350.5:p.(Ser1104=)	NC_000004.11:g.79300899T>C	(Likely) benign	2 labs	3bfb7ef53b
17:45000529 GOSR2 G>C	17	45000529	45000529	G	C	GOSR2	c.-30G>C	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45000529G>C	(Likely) benign	2 labs	3bffb90bbc
6:7583863 DSP G>A	6	7583863	7583863	G	A	DSP	c.6368G>A	NM_004415.4	NP_004406.2:p.(Arg2123His)	NC_000006.11:g.7583863G>A	VUS	3 labs	3c19f53f2a
1:152284384 FLG GCT>G	1	152284384	152284388	GCT	G	FLG	c.2976_2977del	NM_002016.2	NP_002007.1:p.(Arg992SerfsTer31)	NC_000001.10:g.152284387_152284388del	(Likely) pathogenic	2 labs	3c03fa3177
1:156105758 LMNA C>T	1	156105758	156105758	C	T	LMNA	c.1003C>T	NM_170707.4	NP_733821.1:p.(Arg335Trp)	NC_000001.10:g.156105758C>T	(Likely) pathogenic	4 labs	cd9e9e31f1
16:56919235 SLC12A3 G>A	16	56919235	56919235	G	A	SLC12A3	c.1884G>A	NM_000339.3	NP_000330.3:p.(Ser628=)	NC_000016.9:g.56919235G>A	(Likely) benign	2 labs	3c40a422a0
7:128496702 FLNC G>A	7	128496702	128496702	G	A	FLNC	c.7382G>A	NM_001458.5	NP_001449.3:p.(Ser2461Asn)	NC_000007.13:g.128496702G>A	VUS	2 labs	3c328a6524
7:128497262 FLNC A>G	7	128497262	128497262	A	G	FLNC	c.7652A>G	NM_001458.5	NP_001449.3:p.(Asp2551Gly)	NC_000007.13:g.128497262A>G	VUS	2 labs	cda8e51ee5
16:56920969 SLC12A3 C>T	16	56920969	56920969	C	T	SLC12A3	c.2142C>T	NM_000339.3	NP_000330.3:p.(Ala714=)	NC_000016.9:g.56920969C>T	(Likely) benign	2 labs	3c5be357a7
16:2164702 PKD1 G>A	16	2164702	2164702	G	A	PKD1	c.2322C>T	NM_001009944.2	NP_001009944.2:p.(Ala774=)	NC_000016.9:g.2164702G>A	(Likely) benign	2 labs	3c9d1edf0a
2:179467197 TTN A>G	2	179467197	179467197	A	G	TTN	c.47228T>C	NM_133378.4	NP_596869.4:p.(Met15743Thr)	NC_000002.11:g.179467197A>G	VUS	2 labs	3c936c35f3
9:35065360 VCP C>T	9	35065360	35065360	C	T	VCP	c.464G>A	NM_007126.3	NP_009057.1:p.(Arg155His)	NC_000009.11:g.35065360C>T	(Likely) pathogenic	3 labs	3cb9736f2a
22:31333033 MORC2 A>G	22	31333033	31333033	A	G	MORC2	c.1313-9T>C	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31333033A>G	(Likely) benign	2 labs	3cad6c9f58
9:14801725 FREM1 C>G	9	14801725	14801725	C	G	FREM1	c.3619G>C	NM_144966.7	NP_659403.4:p.(Glu1207Gln)	NC_000009.11:g.14801725C>G	(Likely) benign	2 labs	3cd9fe4ffb
16:3299675 MEFV G>A	16	3299675	3299675	G	A	MEFV	c.1016C>T	NM_000243.2	NP_000234.1:p.(Ser339Phe)	NC_000016.9:g.3299675G>A	VUS	2 labs	3cd90379c5
17:61558951 ACE C>T	17	61558951	61558951	C	T	ACE	c.970C>T	NM_000789.4	NP_000780.1:p.(Arg324Trp)	NC_000017.10:g.61558951C>T	(Likely) benign	2 labs	3cdd943813
3:164733721 SI G>A	3	164733721	164733721	G	A	SI	c.3888+19C>T	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164733721G>A	(Likely) benign	2 labs	cdb82fc94f
15:35083508 ACTC1 TCACACACACACA>T	15	35083508	35083554	TCACACACACACA	T	ACTC1	c.809-24_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083543_35083554del	(Likely) benign	2 labs	3d446feb32
17:3550800 CTNS G>A	17	3550800	3550800	G	A	CTNS	c.124G>A	NM_004937.3	NP_004928.2:p.(Val42Ile)	NC_000017.10:g.3550800G>A	(Likely) benign	2 labs	3d4ed3fd57
9:138675910 KCNT1 G>A	9	138675910	138675910	G	A	KCNT1	c.2882G>A	NM_020822.2	NP_065873.2:p.(Arg961His)	NC_000009.11:g.138675910G>A	(Likely) pathogenic	2 labs	3d5a316c7c
2:227917090 COL4A4 T>C	2	227917090	227917090	T	C	COL4A4	c.2899A>G	NM_000092.4	NP_000083.3:p.(Ile967Val)	NC_000002.11:g.227917090T>C	(Likely) benign	3 labs	3d84115cad
7:79828617 GNAI1 T>C	7	79828617	79828617	T	C	GNAI1	c.380T>C	NM_002069.6	NP_002060.4:p.(Ile127Thr)	NC_000007.13:g.79828617T>C	(Likely) benign	3 labs	3db183d786
3:128780652 GP9 T>C	3	128780652	128780652	T	C	GP9	c.70T>C	NM_000174.4	NP_000165.1:p.(Cys24Arg)	NC_000003.11:g.128780652T>C	(Likely) pathogenic	2 labs	3d8eeda141
12:110246111 TRPV4 C>T	12	110246111	110246111	C	T	TRPV4	c.549G>A	NM_021625.5	NP_067638.3:p.(Glu183=)	NC_000012.11:g.110246111C>T	(Likely) benign	2 labs	3d9ec329da
2:179642637 TTN G>A	2	179642637	179642637	G	A	TTN	c.4136C>T	NM_133432.3	NP_597676.3:p.(Ala1379Val)	NC_000002.11:g.179642637G>A	VUS	2 labs	3e0039c3a4
X:585263 SHOX G>C	X	585263	585263	G	C	SHOX	c.-507G>C	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585263G>C	(Likely) benign	2 labs	3e60530182
14:23884860 MYH7 C>T	14	23884860	23884860	C	T	MYH7	c.5135G>A	NM_000257.4	NP_000248.2:p.(Arg1712Gln)	NC_000014.8:g.23884860C>T	(Likely) pathogenic	4 labs	cdd0ab1266
2:21255355 APOB A>G	2	21255355	21255355	A	G	APOB	c.1223T>C	NM_000384.3	NP_000375.3:p.(Ile408Thr)	NC_000002.11:g.21255355A>G	(Likely) benign	2 labs	cdd48f0c76
12:88496418 CEP290 TTG>T	12	88496418	88496437	TTG	T	CEP290	c.2991+195_2991+196del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88496436_88496437del	(Likely) benign	2 labs	3ef8096047
19:39008195 RYR1 C>T	19	39008195	39008195	C	T	RYR1	c.9882C>T	NM_000540.2	NP_000531.2:p.(Ser3294=)	NC_000019.9:g.39008195C>T	(Likely) benign	2 labs	3f0b9c05a4
18:59814324 PIGN G>C	18	59814324	59814324	G	C	PIGN	c.685C>G	NM_176787.5	NP_789744.1:p.(His229Asp)	NC_000018.9:g.59814324G>C	(Likely) benign	2 labs	3f232cb990
20:390646 RBCK1 G>A	20	390646	390646	G	A	RBCK1	c.144G>A	NM_031229.4	NP_112506.2:p.(Glu48=)	NC_000020.10:g.390646G>A	(Likely) benign	2 labs	3f183d7a46
17:59763347 BRIP1 A>G	17	59763347	59763347	A	G	BRIP1	c.2755T>C	NM_032043.2	NP_114432.2:p.(Ser919Pro)	NC_000017.10:g.59763347A>G	(Likely) benign	3 labs	3f32e0b038
8:38287213 FGFR1 G>A	8	38287213	38287213	G	A	FGFR1	c.321C>T	NM_001174064.2	NP_001167535.1:p.(Ser107=)	NC_000008.10:g.38287213G>A	(Likely) benign	2 labs	3f3b73054c
2:74072313 STAMBP T>A	2	74072313	74072313	T	A	STAMBP	c.299T>A	NM_006463.6	NP_006454.1:p.(Phe100Tyr)	NC_000002.11:g.74072313T>A	(Likely) pathogenic	2 labs	3f774d04d8
7:92731344 SAMD9 T>C	7	92731344	92731344	T	C	SAMD9	c.4067A>G	NM_017654.4	NP_060124.2:p.(Glu1356Gly)	NC_000007.13:g.92731344T>C	(Likely) benign	2 labs	3fa264d174
11:66281960 BBS1 G>A	11	66281960	66281960	G	A	BBS1	c.243G>A	NM_024649.5	NP_078925.3:p.(Pro81=)	NC_000011.9:g.66281960G>A	(Likely) benign	2 labs	3fb2b6c939
19:42777603 CIC G>A	19	42777603	42777603	G	A	CIC	c.1668G>A	NM_001304815.2	NP_001291744.1:p.(Thr556=)	NC_000019.9:g.42777603G>A	(Likely) benign	2 labs	3fafa960ea
17:78084688 GAA C>A	17	78084688	78084688	C	A	GAA	c.1551+49C>A	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78084688C>A	(Likely) benign	2 labs	3fcc40140b
X:100652891 GLA C>G	X	100652891	100652891	C	G	GLA	c.1196G>C	NM_000169.2	NP_000160.1:p.(Trp399Ser)	NC_000023.10:g.100652891C>G	VUS	2 labs	3fd1c090a6
22:23481133 RSPH14 GA>G	22	23481133	23481148	GA	G	RSPH14	c.200-5del	NM_014433.3	NP_055248.1:p.?	NC_000022.10:g.23481148del	(Likely) benign	3 labs	3fcecdfd33
13:32971265 BRCA2 G>A	13	32971265	32971265	G	A	BRCA2	c.9648+84G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971265G>A	(Likely) benign	2 labs	3fe91c08cf
2:179408637 TTN G>A	2	179408637	179408637	G	A	TTN	c.69414C>T	NM_133432.3	NP_597676.3:p.(Tyr23138=)	NC_000002.11:g.179408637G>A	(Likely) benign	2 labs	40058f6ea2
18:42456670 SETBP1 C>CTCTT	18	42456670	42456671	C	CTCTT	SETBP1	c.681_682insTCTT	NM_001130110.2	NP_001123582.1:p.(Thr228SerfsTer8)	NC_000018.9:g.42456670_42456671insTCTT	(Likely) benign	2 labs	cdee35779b
1:179851707 TOR1AIP1 C>G	1	179851707	179851707	C	G	TOR1AIP1	c.70C>G	NM_001267578.2	NP_001254507.1:p.(Pro24Ala)	NC_000001.10:g.179851707C>G	(Likely) benign	3 labs	3fed973f98
16:81946210 PLCG2 A>G	16	81946210	81946210	A	G	PLCG2	c.1943A>G	NM_002661.5	NP_002652.2:p.(Tyr648Cys)	NC_000016.9:g.81946210A>G	VUS	2 labs	cdf31fd426
10:100189567 HPS1 C>G	10	100189567	100189567	C	G	HPS1	c.848G>C	NM_000195.5	NP_000186.2:p.(Gly283Ala)	NC_000010.10:g.100189567C>G	(Likely) benign	2 labs	40414a31bf
6:170871040 TBP A>G	6	170871040	170871040	A	G	TBP	c.216A>G	NM_003194.5	NP_003185.1:p.(Gln72=)	NC_000006.11:g.170871040A>G	(Likely) benign	2 labs	406494e5be
1:201031059 CACNA1S A>G	1	201031059	201031059	A	G	CACNA1S	c.3053+13T>C	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201031059A>G	(Likely) benign	3 labs	4057f2173d
2:179480163 TTN T>C	2	179480163	179480163	T	C	TTN	c.48509A>G	NM_001267550.2	NP_001254479.2:p.(Asn16170Ser)	NC_000002.11:g.179480163T>C	VUS	2 labs	cdfaa82578
13:32907419 BRCA2 G>A	13	32907419	32907419	G	A	BRCA2	c.1804G>A	NM_000059.4	NP_000050.3:p.(Gly602Arg)	NC_000013.10:g.32907419G>A	(Likely) benign	7 labs	cdfba18690
6:31917341 CFB A>C	6	31917341	31917341	A	C	CFB	c.1408+7A>C	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31917341A>C	(Likely) benign	2 labs	408f877c8a
4:88964526 PKD2 TG>T	4	88964526	88964527	TG	T	PKD2	c.1237del	NM_000297.4	NP_000288.1:p.(Val413SerfsTer39)	NC_000004.11:g.88964527del	(Likely) pathogenic	2 labs	4090974651
14:23898252 MYH7 A>G	14	23898252	23898252	A	G	MYH7	c.1319T>C	NM_000257.4	NP_000248.2:p.(Val440Ala)	NC_000014.8:g.23898252A>G	VUS	2 labs	40816eaae2
9:131353848 SPTAN1 G>T	9	131353848	131353848	G	T	SPTAN1	c.3099G>T	NM_001130438.3	NP_001123910.1:p.(Glu1033Asp)	NC_000009.11:g.131353848G>T	(Likely) benign	3 labs	40bff83fbb
7:151962265 KMT2C C>T	7	151962265	151962265	C	T	KMT2C	c.1042G>A	NM_170606.3	NP_733751.2:p.(Asp348Asn)	NC_000007.13:g.151962265C>T	(Likely) benign	2 labs	ce00a1c885
3:39433412 SLC25A38 G>C	3	39433412	39433412	G	C	SLC25A38	c.525G>C	NM_017875.4	NP_060345.2:p.(Arg175=)	NC_000003.11:g.39433412G>C	(Likely) benign	2 labs	40ad111623
1:196757392 CFHR3 C>T	1	196757392	196757392	C	T	CFHR3	c.477C>T	NM_021023.5	NP_066303.2:p.(Ser159=)	NC_000001.10:g.196757392C>T	(Likely) benign	2 labs	40c1ebedc7
2:227927294 COL4A4 C>T	2	227927294	227927294	C	T	COL4A4	c.2008G>A	NM_000092.4	NP_000083.3:p.(Val670Ile)	NC_000002.11:g.227927294C>T	(Likely) benign	2 labs	40cbbf23f0
9:137705901 COL5A1 C>T	9	137705901	137705901	C	T	COL5A1	c.3906+19C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137705901C>T	(Likely) benign	2 labs	409b3f1aad
3:114069761 ZBTB20 G>C	3	114069761	114069761	G	C	ZBTB20	c.1164C>G	NM_001164342.2	NP_001157814.1:p.(Asp388Glu)	NC_000003.11:g.114069761G>C	(Likely) benign	3 labs	ce0417a1a7
17:41223232 BRCA1 C>A	17	41223232	41223232	C	A	BRCA1	c.4699G>T	NM_007294.3	NP_009225.1:p.(Gly1567Ter)	NC_000017.10:g.41223232C>A	(Likely) pathogenic	2 labs	40e81ba83a
2:179446394 TTN C>T	2	179446394	179446394	C	T	TTN	c.39781G>A	NM_133432.3	NP_597676.3:p.(Asp13261Asn)	NC_000002.11:g.179446394C>T	VUS	2 labs	40f26d4207
2:44104725 ABCG8 C>T	2	44104725	44104725	C	T	ABCG8	c.1782C>T	NM_022437.3	NP_071882.1:p.(Ser594=)	NC_000002.11:g.44104725C>T	(Likely) benign	2 labs	40fb58cb83
16:2140803 PKD1 G>A	16	2140803	2140803	G	A	PKD1	c.12010C>T	NM_001009944.2	NP_001009944.2:p.(Gln4004Ter)	NC_000016.9:g.2140803G>A	(Likely) pathogenic	2 labs	41101e75aa
11:128786293 KCNJ5 C>T	11	128786293	128786293	C	T	KCNJ5	c.938-11C>T	NM_001354169.2	NP_001341098.1:p.?	NC_000011.9:g.128786293C>T	(Likely) benign	2 labs	41114d5ca3
1:179520511 NPHS2 CA>C	1	179520511	179520512	CA	C	NPHS2	c.948del	NM_014625.4	NP_055440.1:p.(Ala317LeufsTer31)	NC_000001.10:g.179520512del	(Likely) pathogenic	2 labs	4113f56653
1:116268178 CASQ2 GAAAAAA>G	1	116268178	116268201	GAAAAAA	G	CASQ2	c.738-10_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268196_116268201del	(Likely) benign	2 labs	41454246ad
11:128782012 KCNJ5 C>G	11	128782012	128782012	C	G	KCNJ5	c.844C>G	NM_000890.5	NP_000881.3:p.(Gln282Glu)	NC_000011.9:g.128782012C>G	(Likely) benign	3 labs	4159af0a6b
2:166805888 TTC21B C>T	2	166805888	166805888	C	T	TTC21B	c.262+16G>A	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166805888C>T	(Likely) benign	2 labs	41bd22f0fe
12:122064659 ORAI1 G>T	12	122064659	122064659	G	T	ORAI1	c.12G>T	NM_032790.3	NP_116179.2:p.(Glu4Asp)	NC_000012.11:g.122064659G>T	(Likely) benign	2 labs	41be829571
20:47585804 ARFGEF2 C>T	20	47585804	47585804	C	T	ARFGEF2	c.1180C>T	NM_006420.3	NP_006411.2:p.(Pro394Ser)	NC_000020.10:g.47585804C>T	VUS	2 labs	ce13732981
5:1294606 TERT C>T	5	1294606	1294606	C	T	TERT	c.395G>A	NM_198253.2	NP_937983.2:p.(Arg132Gln)	NC_000005.9:g.1294606C>T	VUS	2 labs	41e2e2ed19
19:36333389 NPHS1 G>A	19	36333389	36333389	G	A	NPHS1	c.2398C>T	NM_004646.3	NP_004637.1:p.(Arg800Cys)	NC_000019.9:g.36333389G>A	(Likely) benign	2 labs	41e52baacb
3:97510607 ARL6 C>T	3	97510607	97510607	C	T	ARL6	c.480-8C>T	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97510607C>T	(Likely) benign	2 labs	41ce887ca0
11:20673867 SLC6A5 G>A	11	20673867	20673867	G	A	SLC6A5	c.2103G>A	NM_004211.5	NP_004202.4:p.(Glu701=)	NC_000011.9:g.20673867G>A	(Likely) benign	2 labs	41f2ca6743
5:14488071 TRIO C>T	5	14488071	14488071	C	T	TRIO	c.7334C>T	NM_007118.4	NP_009049.2:p.(Pro2445Leu)	NC_000005.9:g.14488071C>T	(Likely) benign	2 labs	421dbbe3a9
9:73235262 TRPM3 C>T	9	73235262	73235262	C	T	TRPM3	c.1364G>A	NM_020952.6	NP_066003.3:p.(Arg455Gln)	NC_000009.11:g.73235262C>T	(Likely) benign	2 labs	42212e33e5
X:136649499 ZIC3 C>G	X	136649499	136649499	C	G	ZIC3	c.649C>G	NM_003413.4	NP_003404.1:p.(Pro217Ala)	NC_000023.10:g.136649499C>G	(Likely) benign	2 labs	4234a08e54
20:43043127 HNF4A C>T	20	43043127	43043127	C	T	HNF4A	c.418-20C>T	NM_001287182.2	NP_001274111.1:p.?	NC_000020.10:g.43043127C>T	(Likely) benign	2 labs	423a437289
6:7558318 DSP T>C	6	7558318	7558318	T	C	DSP	c.274-31T>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7558318T>C	(Likely) benign	2 labs	423f987b70
2:109371497 RANBP2 C>T	2	109371497	109371497	C	T	RANBP2	c.2339C>T	NM_006267.4	NP_006258.3:p.(Pro780Leu)	NC_000002.11:g.109371497C>T	(Likely) benign	2 labs	426e4a83ba
2:145153973 ZEB2 T>A	2	145153973	145153973	T	A	ZEB2	c.3067+6A>T	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145153973T>A	(Likely) benign	2 labs	428065a132
10:112572427 RBM20 G>A	10	112572427	112572427	G	A	RBM20	c.2272G>A	NM_001134363.1	NP_001127835.1:p.(Gly758Ser)	NC_000010.10:g.112572427G>A	(Likely) benign	2 labs	429fd82d11
19:36317556 NPHS1 C>A	19	36317556	36317556	C	A	NPHS1	c.3595-9G>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36317556C>A	(Likely) benign	2 labs	430cb694ed
19:38973941 RYR1 G>A	19	38973941	38973941	G	A	RYR1	c.4719G>A	NM_000540.2	NP_000531.2:p.(Pro1573=)	NC_000019.9:g.38973941G>A	(Likely) benign	2 labs	430d21a1c3
19:36339247 NPHS1 C>T	19	36339247	36339247	C	T	NPHS1	c.1223G>A	NM_004646.4	NP_004637.1:p.(Arg408Gln)	NC_000019.9:g.36339247C>T	(Likely) benign	3 labs	4335008c4b
4:79186047 FRAS1 G>A	4	79186047	79186047	G	A	FRAS1	c.604-132G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79186047G>A	(Likely) benign	2 labs	43389e9c87
1:156104544 LMNA C>T	1	156104544	156104544	C	T	LMNA				NC_000001.10:g.156104544C>T	(Likely) benign	2 labs	4399a819d7
16:2158239 PKD1 T>C	16	2158239	2158239	T	C	PKD1	c.6915+14A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2158239T>C	(Likely) benign	2 labs	434b87ed99
2:73650122 ALMS1 T>A	2	73650122	73650122	T	A	ALMS1	c.767+20T>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73650122T>A	(Likely) benign	4 labs	ce27c850a7
5:176636820 NSD1 G>T	5	176636820	176636820	G	T	NSD1	c.1420G>T	NM_022455.5	NP_071900.2:p.(Gly474Cys)	NC_000005.9:g.176636820G>T	VUS	2 labs	ce2968ba6b
15:73023682 BBS4 G>A	15	73023682	73023682	G	A	BBS4	c.748G>A	NM_033028.5	NP_149017.2:p.(Gly250Arg)	NC_000015.9:g.73023682G>A	(Likely) benign	2 labs	434a9ed0a5
1:156848968 NTRK1 C>T	1	156848968	156848968	C	T	NTRK1	c.1860C>T	NM_002529.4	NP_002520.2:p.(Gly620=)	NC_000001.10:g.156848968C>T	(Likely) benign	2 labs	435256570c
6:152646214 SYNE1 A>T	6	152646214	152646214	A	T	SYNE1	c.15657+5T>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152646214A>T	(Likely) benign	2 labs	43917aac9f
16:2140321 PKD1 G>A	16	2140321	2140321	G	A	PKD1	c.12406C>T	NM_000296.4	NP_000287.4:p.(Leu4136=)	NC_000016.9:g.2140321G>A	(Likely) benign	2 labs	43ce5966c9
2:179472688 TTN T>A	2	179472688	179472688	T	A	TTN	c.52826A>T	NM_001267550.2	NP_001254479.2:p.(Gln17609Leu)	NC_000002.11:g.179472688T>A	VUS	3 labs	43fd32b6ec
12:21958925 ABCC9 T>C	12	21958925	21958925	T	C	ABCC9	c.4512+7A>G	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.21958925T>C	(Likely) benign	2 labs	43ff3388d5
11:111741105 ALG9 CAA>C	11	111741105	111741127	CAA	C	ALG9	c.-382-14_-382-13del	NM_001077691.2	NP_001071159.1:p.?	NC_000011.9:g.111741126_111741127del	(Likely) benign	2 labs	4415fffac7
9:101470794 GABBR2 C>G	9	101470794	101470794	C	G	GABBR2	c.226G>C	NM_005458.8	NP_005449.5:p.(Gly76Arg)	NC_000009.11:g.101470794C>G	VUS	2 labs	ce4072dc53
2:231035359 SP110 C>T	2	231035359	231035359	C	T	SP110	c.1934G>A	NM_004509.4	NP_004500.4:p.(Arg645His)	NC_000002.11:g.231035359C>T	(Likely) benign	2 labs	441e4e9cd0
X:31986498 DMD C>T	X	31986498	31986498	C	T	DMD				NC_000023.10:g.31986498C>T	VUS	3 labs	ce41996fe5
8:11565920 GATA4 G>T	8	11565920	11565920	G	T	GATA4	c.99G>T	NM_002052.5	NP_002043.2:p.(Ala33=)	NC_000008.10:g.11565920G>T	(Likely) benign	2 labs	44379988c9
22:50900372 SBF1 G>A	22	50900372	50900372	G	A	SBF1	c.2569+4C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50900372G>A	(Likely) benign	2 labs	4420ccd0f5
17:62024398 SCN4A C>T	17	62024398	62024398	C	T	SCN4A	c.3441+7G>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62024398C>T	(Likely) benign	2 labs	4452357f9a
3:38618142 SCN5A G>A	3	38618142	38618142	G	A	SCN5A	c.3511+10C>T	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38618142G>A	(Likely) benign	5 labs	ce441e4caa
17:73827436 UNC13D C>CG	17	73827436	73827440	C	CG	UNC13D	c.2448-8dup	NM_199242.3	NP_954712.1:p.?	NC_000017.10:g.73827440dup	(Likely) benign	2 labs	448170fb8e
11:17464335 ABCC8 C>T	11	17464335	17464335	C	T	ABCC8	c.1562G>A	NM_000352.6	NP_000343.2:p.(Arg521Gln)	NC_000011.9:g.17464335C>T	VUS	3 labs	ce443b99fc
12:25398229 KRAS G>A	12	25398229	25398229	G	A	KRAS	c.90C>T	NM_033360.4	NP_203524.1:p.(Asp30=)	NC_000012.11:g.25398229G>A	(Likely) benign	2 labs	446ae61c15
19:49519793 LHB A>G	19	49519793	49519793	A	G	LHB	c.183+11T>C	NM_000894.3	NP_000885.1:p.?	NC_000019.9:g.49519793A>G	(Likely) benign	2 labs	44a724e7ab
19:18981062 GDF1 G>C	19	18981062	18981062	G	C	GDF1	c.55C>G	NM_001492.6	NP_001483.3:p.(Leu19Val)	NC_000019.9:g.18981062G>C	(Likely) benign	2 labs	44989db05f
17:41226601 BRCA1 G>C	17	41226601	41226601	G	C	BRCA1	c.4485-63C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41226601G>C	(Likely) benign	4 labs	44a95a46d9
21:35821707 KCNE1 C>T	21	35821707	35821707	C	T	KCNE1	c.226G>A	NM_000219.6	NP_000210.2:p.(Asp76Asn)	NC_000021.8:g.35821707C>T	(Likely) pathogenic	2 labs	44aaa8e151
14:104027410 BAG5 C>G	14	104027410	104027410	C	G	BAG5	c.215G>C	NM_001015049.3	NP_001015049.1:p.(Ser72Thr)	NC_000014.8:g.104027410C>G	(Likely) benign	2 labs	44b2a74166
17:7798471 CHD3 G>A	17	7798471	7798471	G	A	CHD3	c.1680+3G>A	NM_001005271.3	NP_001005271.2:p.?	NC_000017.10:g.7798471G>A	(Likely) benign	2 labs	ce4a137a3e
14:74764696 ABCD4 C>T	14	74764696	74764696	C	T	ABCD4	c.362G>A	NM_005050.4	NP_005041.1:p.(Arg121His)	NC_000014.8:g.74764696C>T	VUS	2 labs	ce4a5eb677
18:2951047 LPIN2 T>C	18	2951047	2951047	T	C	LPIN2	c.590+6A>G	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2951047T>C	(Likely) benign	2 labs	44c9e7f1fb
17:38450248 CDC6 G>A	17	38450248	38450248	G	A	CDC6	c.883G>A	NM_001254.4	NP_001245.1:p.(Asp295Asn)	NC_000017.10:g.38450248G>A	(Likely) benign	2 labs	44cbec1b01
2:179454177 TTN C>T	2	179454177	179454177	C	T	TTN	c.62275G>A	NM_001267550.2	NP_001254479.2:p.(Glu20759Lys)	NC_000002.11:g.179454177C>T	(Likely) benign	2 labs	ce4adc1489
20:3870102 PANK2 C>T	20	3870102	3870102	C	T	PANK2	c.355C>T	NM_153638.4	NP_705902.2:p.(Arg119Ter)	NC_000020.10:g.3870102C>T	(Likely) pathogenic	2 labs	ce4c1ca8d8
X:24759511 POLA1 T>C	X	24759511	24759511	T	C	POLA1	c.2218T>C	NM_016937.4	NP_058633.2:p.(Tyr740His)	NC_000023.10:g.24759511T>C	(Likely) benign	2 labs	452b3ba939
17:39925300 JUP G>A	17	39925300	39925300	G	A	JUP	c.628C>T	NM_001352773.2	NP_001339702.1:p.(His210Tyr)	NC_000017.10:g.39925300G>A	VUS	2 labs	453a621876
X:18911697 PHKA2 G>A	X	18911697	18911697	G	A	PHKA2	c.3614C>T	NM_000292.3	NP_000283.1:p.(Pro1205Leu)	NC_000023.10:g.18911697G>A	(Likely) pathogenic	3 labs	453c42f6e0
11:130066335 ST14 C>T	11	130066335	130066335	C	T	ST14	c.1215C>T	NM_021978.4	NP_068813.1:p.(Asn405=)	NC_000011.9:g.130066335C>T	(Likely) benign	2 labs	4554339c9f
1:237540632 RYR2 G>A	1	237540632	237540632	G	A	RYR2	c.473G>A	NM_001035.3	NP_001026.2:p.(Cys158Tyr)	NC_000001.10:g.237540632G>A	VUS	2 labs	4533b3d1a2
12:8759445 AICDA C>T	12	8759445	8759445	C	T	AICDA	c.156+16G>A	NM_020661.4	NP_065712.1:p.?	NC_000012.11:g.8759445C>T	(Likely) benign	2 labs	455af9da99
12:112926884 PTPN11 T>G	12	112926884	112926884	T	G	PTPN11	c.1504T>G	NM_002834.5	NP_002825.3:p.(Ser502Ala)	NC_000012.11:g.112926884T>G	(Likely) pathogenic	2 labs	ce4f07fe1f
2:73828310 ALMS1 T>C	2	73828310	73828310	T	C	ALMS1	c.11876-12T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73828310T>C	(Likely) benign	2 labs	455c83eef8
17:56356502 MPO A>G	17	56356502	56356502	A	G	MPO	c.752T>C	NM_000250.2	NP_000241.1:p.(Met251Thr)	NC_000017.10:g.56356502A>G	(Likely) benign	2 labs	45923697de
1:156105793 LMNA C>T	1	156105793	156105793	C	T	LMNA				NC_000001.10:g.156105793C>T	(Likely) benign	2 labs	459b05189c
20:8678446 PLCB1 G>A	20	8678446	8678446	G	A	PLCB1	c.1167+16G>A	NM_182734.3	NP_877398.1:p.?	NC_000020.10:g.8678446G>A	(Likely) benign	2 labs	45a84b9c52
2:228124491 COL4A3 G>A	2	228124491	228124491	G	A	COL4A3	c.1030-18G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228124491G>A	(Likely) benign	2 labs	45bf370b00
9:6533010 GLDC C>G	9	6533010	6533010	C	G	GLDC	c.*7G>C	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6533010C>G	(Likely) benign	3 labs	45d755ec95
22:17662917 ADA2 G>C	22	17662917	17662917	G	C	ADA2	c.1240-5C>G	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17662917G>C	(Likely) benign	3 labs	45e0b12053
10:89623716 PTEN G>A	10	89623716	89623716	G	A	PTEN	c.10G>A	NM_001304717.5	NP_001291646.4:p.(Gly4Arg)	NC_000010.10:g.89623716G>A	(Likely) benign	4 labs	45e86cf112
17:44249224 KANSL1 A>G	17	44249224	44249224	A	G	KANSL1	c.286T>C	NM_001193466.2	NP_001180395.1:p.(Leu96=)	NC_000017.10:g.44249224A>G	(Likely) benign	2 labs	45e968a537
3:38739448 SCN10A C>T	3	38739448	38739448	C	T	SCN10A	c.5263G>A	NM_006514.4	NP_006505.4:p.(Ala1755Thr)	NC_000003.11:g.38739448C>T	VUS	2 labs	ce56337645
12:52159496 SCN8A C>T	12	52159496	52159496	C	T	SCN8A	c.2586C>T	NM_001330260.2	NP_001317189.1:p.(Asn862=)	NC_000012.11:g.52159496C>T	(Likely) benign	2 labs	4611831121
3:81643167 GBE1 T>C	3	81643167	81643167	T	C	GBE1	c.1000A>G	NM_000158.4	NP_000149.4:p.(Ile334Val)	NC_000003.11:g.81643167T>C	(Likely) benign	3 labs	ce57f24eab
1:3331215 PRDM16 C>T	1	3331215	3331215	C	T	PRDM16	c.2691+4C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3331215C>T	(Likely) benign	2 labs	4625a9a512
4:88957446 PKD2 G>A	4	88957446	88957446	G	A	PKD2	c.784G>A	NM_000297.4	NP_000288.1:p.(Val262Met)	NC_000004.11:g.88957446G>A	(Likely) benign	2 labs	4638080978
12:50348446 AQP2 C>T	12	50348446	50348446	C	T	AQP2	c.559C>T	NM_000486.5	NP_000477.1:p.(Arg187Cys)	NC_000012.11:g.50348446C>T	(Likely) pathogenic	2 labs	4638861f9d
14:23900837 MYH7 A>G	14	23900837	23900837	A	G	MYH7	c.689T>C	NM_000257.4	NP_000248.2:p.(Phe230Ser)	NC_000014.8:g.23900837A>G	(Likely) pathogenic	2 labs	463c50abf2
16:23646980 PALB2 A>AT	16	23646980	23646987	A	AT	PALB2	c.886dup	NM_024675.3	NP_078951.2:p.(Met296AsnfsTer7)	NC_000016.9:g.23646987dup	(Likely) pathogenic	2 labs	4670275998
9:130444799 STXBP1 C>A	9	130444799	130444799	C	A	STXBP1	c.1662C>A	NM_003165.6	NP_003156.1:p.(Tyr554Ter)	NC_000009.11:g.130444799C>A	(Likely) pathogenic	2 labs	467a834b72
1:17349214 SDHB C>T	1	17349214	17349214	C	T	SDHB	c.654G>A	NM_003000.3	NP_002991.2:p.(Trp218Ter)	NC_000001.10:g.17349214C>T	(Likely) pathogenic	2 labs	467b1be769
16:2153760 PKD1 G>A	16	2153760	2153760	G	A	PKD1	c.8298C>T	NM_001009944.2	NP_001009944.2:p.(Ser2766=)	NC_000016.9:g.2153760G>A	(Likely) benign	2 labs	4685ce06a2
2:219754712 WNT10A G>A	2	219754712	219754712	G	A	WNT10A	c.383G>A	NM_025216.3	NP_079492.2:p.(Arg128Gln)	NC_000002.11:g.219754712G>A	(Likely) pathogenic	2 labs	46c28c996b
20:52788190 CYP24A1 G>T	20	52788190	52788190	G	T	CYP24A1	c.469C>A	NM_000782.5	NP_000773.2:p.(Arg157=)	NC_000020.10:g.52788190G>T	(Likely) benign	2 labs	46bb0e7a6b
2:179406989 TTN A>G	2	179406989	179406989	A	G	TTN	c.97492+2T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179406989A>G	(Likely) pathogenic	2 labs	46c4f00f75
11:6637239 TPP1 G>C	11	6637239	6637239	G	C	TPP1	c.1142C>G	NM_000391.4	NP_000382.3:p.(Ser381Cys)	NC_000011.9:g.6637239G>C	VUS	2 labs	46f27b6aa2
1:150044250 VPS45 T>G	1	150044250	150044250	T	G	VPS45	c.246T>G	NM_007259.4	NP_009190.2:p.(Ile82Met)	NC_000001.10:g.150044250T>G	(Likely) benign	2 labs	46fe68b97c
14:64688349 SYNE2 G>A	14	64688349	64688349	G	A	SYNE2	c.20117G>A	NM_182914.3	NP_878918.2:p.(Arg6706Gln)	NC_000014.8:g.64688349G>A	(Likely) benign	2 labs	470bbe9cd2
8:133141865 KCNQ3 C>T	8	133141865	133141865	C	T	KCNQ3	c.2263G>A	NM_004519.4	NP_004510.1:p.(Asp755Asn)	NC_000008.10:g.133141865C>T	(Likely) benign	2 labs	471ebfeaed
6:152831348 SYNE1 C>A	6	152831348	152831348	C	A	SYNE1	c.582G>T	NM_033071.5	NP_149062.2:p.(Trp194Cys)	NC_000006.11:g.152831348C>A	VUS	2 labs	ce6b1835f1
X:32456458 DMD C>A	X	32456458	32456458	C	A	DMD	c.3971G>T	NM_004006.3	NP_003997.2:p.(Arg1324Leu)	NC_000023.10:g.32456458C>A	VUS	2 labs	ce6d8e68ce
17:33513315 UNC45B C>T	17	33513315	33513315	C	T	UNC45B	c.2536-3C>T	NM_173167.3	NP_775259.1:p.?	NC_000017.10:g.33513315C>T	(Likely) benign	2 labs	475a2074e4
10:14977469 DCLRE1C C>T	10	14977469	14977469	C	T	DCLRE1C	c.97G>A	NM_001289079.2	NP_001276008.1:p.(Gly33Arg)	NC_000010.10:g.14977469C>T	(Likely) benign	2 labs	477eb862ed
19:39410794 SARS2 A>T	19	39410794	39410794	A	T	SARS2	c.590-5T>A	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39410794A>T	(Likely) benign	2 labs	477aa3f1a5
2:227985862 COL4A4 A>G	2	227985862	227985862	A	G	COL4A4	c.195T>C	NM_000092.4	NP_000083.3:p.(Gly65=)	NC_000002.11:g.227985862A>G	(Likely) benign	2 labs	477fe12742
16:1270349 CACNA1H T>C	16	1270349	1270349	T	C	CACNA1H	c.6417T>C	NM_021098.3	NP_066921.2:p.(Asp2139=)	NC_000016.9:g.1270349T>C	(Likely) benign	2 labs	478cde51da
13:35770061 NBEA A>G	13	35770061	35770061	A	G	NBEA	c.4988A>G	NM_015678.5	NP_056493.3:p.(Asp1663Gly)	NC_000013.10:g.35770061A>G	(Likely) benign	3 labs	47ce5ca75d
1:3301748 PRDM16 C>T	1	3301748	3301748	C	T	PRDM16	c.471C>T	NM_022114.4	NP_071397.3:p.(Cys157=)	NC_000001.10:g.3301748C>T	(Likely) benign	2 labs	47c84eff43
1:43396718 SLC2A1 G>A	1	43396718	43396718	G	A	SLC2A1	c.274C>T	NM_006516.3	NP_006507.2:p.(Arg92Trp)	NC_000001.10:g.43396718G>A	(Likely) pathogenic	2 labs	47d3d157d1
1:156830742 NTRK1 C>T	1	156830742	156830742	C	T	NTRK1	c.16C>T	NM_002529.4	NP_002520.2:p.(Arg6Trp)	NC_000001.10:g.156830742C>T	(Likely) benign	3 labs	47b94f0fe0
1:12057344 MFN2 C>G	1	12057344	12057344	C	G	MFN2	c.475-10C>G	NM_014874.3	NP_055689.1:p.?	NC_000001.10:g.12057344C>G	(Likely) benign	2 labs	47e2b50393
20:57245580 STX16 G>A	20	57245580	57245580	G	A	STX16	c.569G>A	NM_001001433.3	NP_001001433.1:p.(Arg190Gln)	NC_000020.10:g.57245580G>A	(Likely) benign	2 labs	48076ec585
X:128674716 OCRL C>T	X	128674716	128674716	C	T	OCRL	c.40-5C>T	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128674716C>T	(Likely) benign	2 labs	483bd89a77
13:39435552 FREM2 CT>C	13	39435552	39435563	CT	C	FREM2	c.7520-5del	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435563del	(Likely) benign	2 labs	482b3ca9c2
13:32936612 BRCA2 A>G	13	32936612	32936612	A	G	BRCA2	c.7806-48A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936612A>G	(Likely) benign	2 labs	4839e9fee1
9:137660307 COL5A1 C>A	9	137660307	137660307	C	A	COL5A1	c.2284C>A	NM_000093.4	NP_000084.3:p.(Pro762Thr)	NC_000009.11:g.137660307C>A	VUS	2 labs	484221d174
16:8906887 PMM2 A>G	16	8906887	8906887	A	G	PMM2	c.563A>G	NM_000303.3	NP_000294.1:p.(Asp188Gly)	NC_000016.9:g.8906887A>G	(Likely) pathogenic	2 labs	48432a4f6c
16:53639483 RPGRIP1L C>A	16	53639483	53639483	C	A	RPGRIP1L	c.3745G>T	NM_015272.5	NP_056087.2:p.(Asp1249Tyr)	NC_000016.9:g.53639483C>A	(Likely) benign	2 labs	48473077af
13:36239272 NBEA G>T	13	36239272	36239272	G	T	NBEA	c.8350G>T	NM_015678.5	NP_056493.3:p.(Val2784Phe)	NC_000013.10:g.36239272G>T	(Likely) benign	2 labs	48478dc06f
2:228137746 COL4A3 G>A	2	228137746	228137746	G	A	COL4A3	c.1840G>A	NM_000091.4	NP_000082.2:p.(Gly614Arg)	NC_000002.11:g.228137746G>A	(Likely) pathogenic	2 labs	48490b44c9
1:160265884 COPA G>A	1	160265884	160265884	G	A	COPA	c.2319C>T	NM_004371.4	NP_004362.2:p.(Ser773=)	NC_000001.10:g.160265884G>A	(Likely) benign	2 labs	484a7fd257
15:44888270 SPG11 A>G	15	44888270	44888270	A	G	SPG11	c.4434+11T>C	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44888270A>G	(Likely) benign	2 labs	48709f8500
15:80445479 FAH T>A	15	80445479	80445479	T	A	FAH	c.81+2T>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80445479T>A	(Likely) pathogenic	2 labs	4883c4493b
16:9858173 GRIN2A G>T	16	9858173	9858173	G	T	GRIN2A	c.3228C>A	NM_000833.5	NP_000824.1:p.(Asn1076Lys)	NC_000016.9:g.9858173G>T	(Likely) benign	2 labs	4889e70f6f
12:6153534 VWF T>C	12	6153534	6153534	T	C	VWF	c.2365A>G	NM_000552.4	NP_000543.2:p.(Thr789Ala)	NC_000012.11:g.6153534T>C	(Likely) benign	2 labs	48e21de657
22:51065305 ARSA G>A	22	51065305	51065305	G	A	ARSA	c.641C>T	NM_000487.6	NP_000478.3:p.(Ala214Val)	NC_000022.10:g.51065305G>A	(Likely) pathogenic	2 labs	48e8ec4987
X:122336600 GRIA3 T>TG	X	122336600	122336603	T	TG	GRIA3	c.383_386=	NM_001256743.2	NP_001243672.1:p.(Gly128_Ala129=)	NC_000023.10:g.122336603dup	(Likely) benign	2 labs	48ef708f3f
2:227917082 COL4A4 T>G	2	227917082	227917082	T	G	COL4A4	c.2907A>C	NM_000092.4	NP_000083.3:p.(Ser969=)	NC_000002.11:g.227917082T>G	(Likely) benign	2 labs	4922b76ef9
17:48276622 COL1A1 G>A	17	48276622	48276622	G	A	COL1A1	c.436C>T	NM_000088.3	NP_000079.2:p.(Pro146Ser)	NC_000017.10:g.48276622G>A	VUS	2 labs	49354596e9
7:75687382 MDH2 G>A	7	75687382	75687382	G	A	MDH2	c.415G>A	NM_005918.3	NP_005909.2:p.(Val139Ile)	NC_000007.13:g.75687382G>A	(Likely) benign	2 labs	495077aef9
16:1252118 CACNA1H C>T	16	1252118	1252118	C	T	CACNA1H	c.1668C>T	NM_021098.3	NP_066921.2:p.(Pro556=)	NC_000016.9:g.1252118C>T	(Likely) benign	2 labs	49519f0e28
16:1254361 CACNA1H A>T	16	1254361	1254361	A	T	CACNA1H	c.2354A>T	NM_021098.3	NP_066921.2:p.(Lys785Met)	NC_000016.9:g.1254361A>T	(Likely) benign	2 labs	49670f2266
2:113887144 IL1RN C>T	2	113887144	113887144	C	T	IL1RN	c.126-9C>T	NM_173841.2	NP_776213.1:p.?	NC_000002.11:g.113887144C>T	(Likely) benign	2 labs	49738e05f1
2:179556738 TTN C>T	2	179556738	179556738	C	T	TTN	c.31762+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179556738C>T	(Likely) benign	2 labs	498b094f0d
15:85406124 ALPK3 GA>G	15	85406124	85406127	GA	G	ALPK3	c.4391del	NM_020778.5	NP_065829.4:p.(Asn1464ThrfsTer14)	NC_000015.9:g.85406127del	(Likely) pathogenic	4 labs	cea0b7dd6e
14:51057796 ATL1 A>G	14	51057796	51057796	A	G	ATL1	c.417+3A>G	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51057796A>G	(Likely) benign	3 labs	499122d9ca
9:129456119 LMX1B G>A	9	129456119	129456119	G	A	LMX1B	c.914G>A	NM_001174146.2	NP_001167617.1:p.(Gly305Asp)	NC_000009.11:g.129456119G>A	(Likely) benign	2 labs	49ac075006
6:51612724 PKHD1 AT>A	6	51612724	51612725	AT	A	PKHD1	c.9689del	NM_138694.4	NP_619639.3:p.(Asp3230ValfsTer34)	NC_000006.11:g.51612725del	(Likely) pathogenic	2 labs	49b3ad1acd
9:14775779 FREM1 A>G	9	14775779	14775779	A	G	FREM1	c.4857+8T>C	NM_144966.7	NP_659403.4:p.?	NC_000009.11:g.14775779A>G	(Likely) benign	2 labs	49c6ba361a
12:110032849 MVK A>C	12	110032849	110032849	A	C	MVK	c.902A>C	NM_000431.2	NP_000422.1:p.(Asn301Thr)	NC_000012.11:g.110032849A>C	(Likely) pathogenic	2 labs	49d0b605e7
3:189607287 TP63 A>C	3	189607287	189607287	A	C	TP63	c.1652+14A>C	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189607287A>C	(Likely) benign	2 labs	49d5c07a2a
3:123418852 MYLK C>T	3	123418852	123418852	C	T	MYLK	c.3448+15G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123418852C>T	(Likely) benign	2 labs	49db5b6589
2:48028047 MSH6 C>T	2	48028047	48028047	C	T	MSH6	c.2925C>T	NM_000179.2	NP_000170.1:p.(Asn975=)	NC_000002.11:g.48028047C>T	(Likely) benign	2 labs	4a0d875476
1:158606449 SPTA1 G>T	1	158606449	158606449	G	T	SPTA1	c.5292C>A	NM_003126.4	NP_003117.2:p.(Ala1764=)	NC_000001.10:g.158606449G>T	(Likely) benign	2 labs	4a0de06b7f
7:81579766 CACNA2D1 A>G	7	81579766	81579766	A	G	CACNA2D1	c.3218T>C	NM_000722.2	NP_000713.2:p.(Ile1073Thr)	NC_000007.13:g.81579766A>G	(Likely) benign	2 labs	4a41b38d8b
1:201333472 TNNT2 T>C	1	201333472	201333472	T	C	TNNT2	c.413A>G	NM_001276347.2	NP_001263276.1:p.(Gln138Arg)	NC_000001.10:g.201333472T>C	VUS	2 labs	4a3bc80dbf
6:32810443 PSMB8 G>A	6	32810443	32810443	G	A	PSMB8	c.395+6C>T	NM_004159.5	NP_004150.1:p.?	NC_000006.11:g.32810443G>A	(Likely) benign	2 labs	4a4df6bc19
11:22257734 ANO5 C>T	11	22257734	22257734	C	T	ANO5	c.674C>T	NM_213599.3	NP_998764.1:p.(Pro225Leu)	NC_000011.9:g.22257734C>T	VUS	2 labs	cea59f43a4
11:128781978 KCNJ5 T>G	11	128781978	128781978	T	G	KCNJ5	c.810T>G	NM_000890.5	NP_000881.3:p.(Leu270=)	NC_000011.9:g.128781978T>G	(Likely) benign	4 labs	4a75ac8cae
5:127599227 FBN2 G>T	5	127599227	127599227	G	T	FBN2	c.8082C>A	NM_001999.4	NP_001990.2:p.(His2694Gln)	NC_000005.9:g.127599227G>T	(Likely) benign	4 labs	4ac841ac03
9:98270646 PTCH1 T>TGCC	9	98270646	98270669	T	TGCC	PTCH1	c.-6_-4dup	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98270667_98270669dup	(Likely) benign	4 labs	4af49165f6
20:62560689 DNAJC5 C>T	20	62560689	62560689	C	T	DNAJC5	c.132C>T	NM_025219.3	NP_079495.1:p.(Pro44=)	NC_000020.10:g.62560689C>T	(Likely) benign	2 labs	4aea45f154
1:152277822 FLG T>C	1	152277822	152277822	T	C	FLG	c.9540A>G	NM_002016.2	NP_002007.1:p.(Ser3180=)	NC_000001.10:g.152277822T>C	(Likely) benign	2 labs	ceac704698
2:228163538 COL4A3 G>A	2	228163538	228163538	G	A	COL4A3	c.3882+10G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228163538G>A	(Likely) benign	2 labs	4b1ebd8095
4:88583745 DMP1 G>A	4	88583745	88583745	G	A	DMP1	c.815G>A	NM_004407.4	NP_004398.1:p.(Arg272His)	NC_000004.11:g.88583745G>A	(Likely) benign	2 labs	4b227e263f
3:169482791 TERC C>T	3	169482791	169482791	C	T	TERC	n.58G>A	NR_001566.1		NC_000003.11:g.169482791C>T	(Likely) benign	4 labs	4b2b119d07
12:103240726 PAH T>C	12	103240726	103240726	T	C	PAH	c.916A>G	NM_000277.3	NP_000268.1:p.(Ile306Val)	NC_000012.11:g.103240726T>C	(Likely) pathogenic	2 labs	4b597c8cc6
6:152675893 SYNE1 T>G	6	152675893	152675893	T	G	SYNE1	c.10827A>C	NM_182961.4	NP_892006.3:p.(Gln3609His)	NC_000006.11:g.152675893T>G	(Likely) benign	2 labs	4b6389a48c
12:33031346 PKP2 C>T	12	33031346	33031346	C	T	PKP2	c.468G>A	NM_004572.4	NP_004563.2:p.(Pro156=)	NC_000012.11:g.33031346C>T	(Likely) benign	2 labs	4b559ef734
11:32456439 WT1 C>A	11	32456439	32456439	C	A	WT1	c.468G>T	NM_024426.6	NP_077744.4:p.(Pro156=)	NC_000011.9:g.32456439C>A	(Likely) benign	2 labs	4b705df2ee
19:13318672 CACNA1A C>CCTGCTG	19	13318672	13318712	C	CCTGCTG	CACNA1A	c.6988_6993dup	NM_023035.3	NP_075461.2:p.(Gln2330_Gln2331dup)	NC_000019.9:g.13318707_13318712dup	(Likely) benign	3 labs	4b70b01d47
16:89613123 SPG7 A>G	16	89613123	89613123	A	G	SPG7	c.1507A>G	NM_003119.4	NP_003110.1:p.(Thr503Ala)	NC_000016.9:g.89613123A>G	(Likely) benign	2 labs	4b75970e67
8:17924719 ASAH1 T>C	8	17924719	17924719	T	C	ASAH1	c.382+10A>G	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17924719T>C	(Likely) benign	3 labs	4b822a8a2e
13:110819586 COL4A1 G>A	13	110819586	110819586	G	A	COL4A1	c.3877-9C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110819586G>A	(Likely) benign	4 labs	cec6aacaf0
11:63987989 FERMT3 G>A	11	63987989	63987989	G	A	FERMT3	c.1393G>A	NM_031471.6	NP_113659.3:p.(Glu465Lys)	NC_000011.9:g.63987989G>A	(Likely) benign	2 labs	4ba818f091
X:154132225 F8 C>T	X	154132225	154132225	C	T	F8	c.5954G>A	NM_000132.3	NP_000123.1:p.(Arg1985Gln)	NC_000023.10:g.154132225C>T	(Likely) pathogenic	2 labs	4bf2efc199
X:154088853 F8 C>G	X	154088853	154088853	C	G	F8	c.6754G>C	NM_000132.3	NP_000123.1:p.(Asp2252His)	NC_000023.10:g.154088853C>G	(Likely) pathogenic	2 labs	4c0c0b36c5
6:51890774 PKHD1 G>A	6	51890774	51890774	G	A	PKHD1	c.3834C>T	NM_138694.4	NP_619639.3:p.(Phe1278=)	NC_000006.11:g.51890774G>A	(Likely) benign	2 labs	4c0ea4ebd4
3:49160151 LAMB2 T>C	3	49160151	49160151	T	C	LAMB2	c.4559A>G	NM_002292.4	NP_002283.3:p.(Lys1520Arg)	NC_000003.11:g.49160151T>C	VUS	2 labs	cece62a2a3
2:179452411 TTN G>A	2	179452411	179452411	G	A	TTN	c.63625C>T	NM_001267550.2	NP_001254479.2:p.(Arg21209Ter)	NC_000002.11:g.179452411G>A	(Likely) pathogenic	2 labs	4c34f399b7
1:236899012 ACTN2 G>A	1	236899012	236899012	G	A	ACTN2	c.775G>A	NM_001103.4	NP_001094.1:p.(Ala259Thr)	NC_000001.10:g.236899012G>A	VUS	3 labs	4c5e7d8488
2:96780763 ADRA2B C>T	2	96780763	96780763	C	T	ADRA2B	c.1135G>A	NM_000682.7	NP_000673.2:p.(Val379Ile)	NC_000002.11:g.96780763C>T	(Likely) benign	2 labs	4c8b233d43
5:172660192 NKX2-5 C>A	5	172660192	172660192	C	A	NKX2-5	c.355G>T	NM_004387.4	NP_004378.1:p.(Ala119Ser)	NC_000005.9:g.172660192C>A	(Likely) benign	4 labs	da03d85457
16:2143746 PKD1 AG>A	16	2143746	2143751	AG	A	PKD1	c.10822-8del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2143751del	(Likely) benign	2 labs	4cb9c583c4
1:57422562 C8B G>A	1	57422562	57422562	G	A	C8B	c.115C>T	NM_001278543.2	NP_001265472.2:p.(Gln39Ter)	NC_000001.10:g.57422562G>A	(Likely) pathogenic	2 labs	4cc0b1dba6
14:37135752 PAX9 C>T	14	37135752	37135752	C	T	PAX9	c.717C>T	NM_006194.4	NP_006185.1:p.(His239=)	NC_000014.8:g.37135752C>T	(Likely) benign	2 labs	4ccc9fc3fe
15:43028592 CDAN1 G>A	15	43028592	43028592	G	A	CDAN1	c.477C>T	NM_138477.4	NP_612486.2:p.(Pro159=)	NC_000015.9:g.43028592G>A	(Likely) benign	2 labs	da0455a192
5:176813232 SLC34A1 GGTCCCCAAGCTGCGCCAGGCT>G	5	176813232	176813254	GGTCCCCAAGCTGCGCCAGGCT	G	SLC34A1	c.272_292del	NM_003052.5	NP_003043.3:p.(Val91_Ala97del)	NC_000005.9:g.176813234_176813254del	(Likely) benign	3 labs	4ce5d04ca9
17:78087081 GAA G>A	17	78087081	78087081	G	A	GAA	c.2105G>A	NM_000152.3	NP_000143.2:p.(Arg702His)	NC_000017.10:g.78087081G>A	VUS	2 labs	4cfa3484b3
16:29824814 PRRT2 G>C	16	29824814	29824814	G	C	PRRT2	c.439G>C	NM_145239.2	NP_660282.2:p.(Asp147His)	NC_000016.9:g.29824814G>C	(Likely) benign	2 labs	4cfded82ba
19:6707567 C3 G>A	19	6707567	6707567	G	A	C3	c.1976-19C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6707567G>A	(Likely) benign	2 labs	4cfe0556b5
16:51175898 SALL1 C>G	16	51175898	51175898	C	G	SALL1	c.235G>C	NM_002968.2	NP_002959.2:p.(Ala79Pro)	NC_000016.9:g.51175898C>G	(Likely) benign	2 labs	4d1b8ce87e
12:21918931 KCNJ8 A>G	12	21918931	21918931	A	G	KCNJ8	c.1001T>C	NM_004982.4	NP_004973.1:p.(Val334Ala)	NC_000012.11:g.21918931A>G	(Likely) benign	3 labs	4d00a299cd
17:48153093 ITGA3 C>G	17	48153093	48153093	C	G	ITGA3	c.1668C>G	NM_002204.4	NP_002195.1:p.(Leu556=)	NC_000017.10:g.48153093C>G	(Likely) benign	2 labs	4d1c933e40
2:167142979 SCN9A C>T	2	167142979	167142979	C	T	SCN9A	c.1469G>A	NM_002977.3	NP_002968.1:p.(Ser490Asn)	NC_000002.11:g.167142979C>T	(Likely) benign	4 labs	4d34116b93
8:41585438 ANK1 G>A	8	41585438	41585438	G	A	ANK1	c.414C>T	NM_001142446.2	NP_001135918.1:p.(Asn138=)	NC_000008.10:g.41585438G>A	(Likely) benign	2 labs	4d5be574de
15:45391908 DUOX2 C>T	15	45391908	45391908	C	T	DUOX2	c.3367G>A	NM_014080.5	NP_054799.4:p.(Ala1123Thr)	NC_000015.9:g.45391908C>T	VUS	2 labs	cee5051166
17:47696411 SPOP G>A	17	47696411	47696411	G	A	SPOP	c.412C>T	NM_001007226.1	NP_001007227.1:p.(Arg138Cys)	NC_000017.10:g.47696411G>A	VUS	2 labs	4d61a3c771
7:128491699 FLNC G>A	7	128491699	128491699	G	A	FLNC	c.5842+17G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491699G>A	(Likely) benign	2 labs	4d4abcebea
2:166859098 SCN1A C>T	2	166859098	166859098	C	T	SCN1A	c.4168G>A	NM_001202435.3	NP_001189364.1:p.(Val1390Met)	NC_000002.11:g.166859098C>T	(Likely) pathogenic	2 labs	4d76d6e0a3
19:7125394 INSR C>T	19	7125394	7125394	C	T	INSR	c.3158G>A	NM_000208.4	NP_000199.2:p.(Arg1053His)	NC_000019.9:g.7125394C>T	(Likely) benign	2 labs	4d91a0e9f0
13:52513266 ATP7B T>C	13	52513266	52513266	T	C	ATP7B	c.3620A>G	NM_000053.4	NP_000044.2:p.(His1207Arg)	NC_000013.10:g.52513266T>C	(Likely) benign	3 labs	cef2112f6a
18:77455227 CTDP1 C>T	18	77455227	77455227	C	T	CTDP1	c.317C>T	NM_004715.5	NP_004706.3:p.(Ala106Val)	NC_000018.9:g.77455227C>T	(Likely) benign	2 labs	4da0b982dc
11:47360911 MYBPC3 G>A	11	47360911	47360911	G	A	MYBPC3	c.2112C>T	NM_000256.3	NP_000247.2:p.(Asp704=)	NC_000011.9:g.47360911G>A	(Likely) benign	4 labs	4db41c090e
2:152460171 NEB C>T	2	152460171	152460171	C	T	NEB	c.13175G>A	NM_001271208.1	NP_001258137.1:p.(Arg4392His)	NC_000002.11:g.152460171C>T	(Likely) benign	2 labs	4da879ec6d
13:52524488 ATP7B T>C	13	52524488	52524488	T	C	ATP7B	c.2495A>G	NM_000053.4	NP_000044.2:p.(Lys832Arg)	NC_000013.10:g.52524488T>C	(Likely) benign	3 labs	cef2efb7f7
5:52397199 MOCS2 G>A	5	52397199	52397199	G	A	MOCS2	c.367C>T	NM_004531.5	NP_004522.1:p.(His123Tyr)	NC_000005.9:g.52397199G>A	(Likely) benign	2 labs	4dc17f6f04
17:41247847 BRCA1 C>T	17	41247847	41247847	C	T	BRCA1	c.670+16G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247847C>T	(Likely) benign	4 labs	cef86fcdf0
3:49159603 LAMB2 G>A	3	49159603	49159603	G	A	LAMB2	c.4774C>T	NM_002292.4	NP_002283.3:p.(Arg1592Trp)	NC_000003.11:g.49159603G>A	(Likely) benign	2 labs	4dc2431010
8:94808198 TMEM67 T>C	8	94808198	94808198	T	C	TMEM67	c.1843T>C	NM_153704.5	NP_714915.3:p.(Cys615Arg)	NC_000008.10:g.94808198T>C	(Likely) pathogenic	2 labs	4dc5f2b674
11:47354439 MYBPC3 A>G	11	47354439	47354439	A	G	MYBPC3	c.3416T>C	NM_000256.3	NP_000247.2:p.(Val1139Ala)	NC_000011.9:g.47354439A>G	VUS	3 labs	4dfd5bb522
3:38592637 SCN5A G>A	3	38592637	38592637	G	A	SCN5A	c.5226C>T	NM_001099404.2	NP_001092874.1:p.(Cys1742=)	NC_000003.11:g.38592637G>A	(Likely) benign	2 labs	cef8ccbfe8
11:108121734 ATM T>C	11	108121734	108121734	T	C	ATM	c.1542T>C	NM_000051.3	NP_000042.3:p.(Gly514=)	NC_000011.9:g.108121734T>C	(Likely) benign	4 labs	4e09217b1b
2:166788324 TTC21B T>C	2	166788324	166788324	T	C	TTC21B	c.838A>G	NM_024753.5	NP_079029.3:p.(Met280Val)	NC_000002.11:g.166788324T>C	(Likely) benign	2 labs	4e237c6f0e
20:35555633 SAMHD1 CAT>C	20	35555633	35555635	CAT	C	SAMHD1	c.646_647del	NM_015474.4	NP_056289.2:p.(Met216ValfsTer2)	NC_000020.10:g.35555634_35555635del	(Likely) pathogenic	2 labs	4e1a6a64b2
19:7152851 INSR G>T	19	7152851	7152851	G	T	INSR	c.2117C>A	NM_000208.4	NP_000199.2:p.(Ala706Asp)	NC_000019.9:g.7152851G>T	(Likely) benign	2 labs	4e50078b6b
18:77474771 CTDP1 G>A	18	77474771	77474771	G	A	CTDP1	c.1311G>A	NM_004715.5	NP_004706.3:p.(Pro437=)	NC_000018.9:g.77474771G>A	(Likely) benign	2 labs	4e50290352
15:66782110 MAP2K1 A>G	15	66782110	66782110	A	G	MAP2K1	c.1068+9A>G	NM_002755.3	NP_002746.1:p.?	NC_000015.9:g.66782110A>G	(Likely) benign	2 labs	4e725ca773
2:179425049 TTN GT>G	2	179425049	179425055	GT	G	TTN	c.85809del	NM_001267550.2	NP_001254479.2:p.(Lys28603AsnfsTer6)	NC_000002.11:g.179425055del	(Likely) pathogenic	2 labs	4e7e26761e
19:39207742 ACTN4 G>A	19	39207742	39207742	G	A	ACTN4	c.929G>A	NM_004924.6	NP_004915.2:p.(Arg310Gln)	NC_000019.9:g.39207742G>A	(Likely) benign	3 labs	4e945f3816
12:112888163 PTPN11 G>C	12	112888163	112888163	G	C	PTPN11	c.179G>C	NM_002834.3	NP_002825.3:p.(Gly60Ala)	NC_000012.11:g.112888163G>C	(Likely) pathogenic	2 labs	4e9c03c5b9
1:43912844 SZT2 G>A	1	43912844	43912844	G	A	SZT2	c.9115+5G>A	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43912844G>A	(Likely) benign	2 labs	4eacc2cdc6
14:23871840 MYH6 G>T	14	23871840	23871840	G	T	MYH6	c.1003-29C>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23871840G>T	(Likely) benign	2 labs	4eda47bcfa
6:31914180 CFB G>A	6	31914180	31914180	G	A	CFB	c.95G>A	NM_001710.5	NP_001701.2:p.(Arg32Gln)	NC_000006.11:g.31914180G>A	(Likely) benign	2 labs	4ef65e50d9
10:112572151 RBM20 C>T	10	112572151	112572151	C	T	RBM20	c.1996C>T	NM_001134363.3	NP_001127835.2:p.(Arg666Trp)	NC_000010.10:g.112572151C>T	VUS	2 labs	4f1225c136
2:109368311 RANBP2 T>C	2	109368311	109368311	T	C	RANBP2	c.1632-16T>C	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109368311T>C	(Likely) benign	2 labs	4f724a8acb
1:92941657 GFI1 G>A	1	92941657	92941657	G	A	GFI1	c.1198C>T	NM_005263.3	NP_005254.2:p.(Leu400Phe)	NC_000001.10:g.92941657G>A	(Likely) benign	2 labs	4f4bb6e268
19:41118056 LTBP4 A>G	19	41118056	41118056	A	G	LTBP4	c.2458A>G	NM_001042544.1	NP_001036009.1:p.(Thr820Ala)	NC_000019.9:g.41118056A>G	(Likely) benign	2 labs	cf0dd5d5d4
4:3494544 DOK7 C>T	4	3494544	3494544	C	T	DOK7	c.831C>T	NM_173660.5	NP_775931.3:p.(Ala277=)	NC_000004.11:g.3494544C>T	(Likely) benign	2 labs	4fa0fa64d3
16:3297100 MEFV G>A	16	3297100	3297100	G	A	MEFV	c.1503C>T	NM_000243.2	NP_000234.1:p.(Arg501=)	NC_000016.9:g.3297100G>A	(Likely) benign	2 labs	4fb029a341
7:19156851 TWIST1 C>T	7	19156851	19156851	C	T	TWIST1	c.94G>A	NM_000474.4	NP_000465.1:p.(Gly32Ser)	NC_000007.13:g.19156851C>T	(Likely) benign	3 labs	4fb9d8482b
3:10183872 VHL G>A	3	10183872	10183872	G	A	VHL	c.340+1G>A	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10183872G>A	(Likely) pathogenic	2 labs	4fc3e37543
21:47542861 COL6A2 A>G	21	47542861	47542861	A	G	COL6A2	c.1671+10A>G	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47542861A>G	(Likely) benign	3 labs	cf1e86eab6
11:128781515 KCNJ5 G>A	11	128781515	128781515	G	A	KCNJ5	c.347G>A	NM_000890.3	NP_000881.3:p.(Gly116Asp)	NC_000011.9:g.128781515G>A	VUS	2 labs	501092757d
7:33423337 BBS9 A>C	7	33423337	33423337	A	C	BBS9	c.1849A>C	NM_198428.3	NP_940820.1:p.(Ile617Leu)	NC_000007.13:g.33423337A>C	(Likely) benign	2 labs	502d83f13e
18:55336665 ATP8B1 A>G	18	55336665	55336665	A	G	ATP8B1	c.1982T>C	NM_005603.6	NP_005594.2:p.(Ile661Thr)	NC_000018.9:g.55336665A>G	(Likely) pathogenic	3 labs	50345bed0e
4:88986541 PKD2 T>C	4	88986541	88986541	T	C	PKD2	c.2134T>C	NM_000297.4	NP_000288.1:p.(Leu712=)	NC_000004.11:g.88986541T>C	(Likely) benign	2 labs	504f888e32
21:36164486 RUNX1 G>C	21	36164486	36164486	G	C	RUNX1	c.1389C>G	NM_001754.4	NP_001745.2:p.(Pro463=)	NC_000021.8:g.36164486G>C	(Likely) benign	2 labs	50819b8ea4
1:17355175 SDHB G>A	1	17355175	17355175	G	A	SDHB	c.343C>T	NM_003000.2	NP_002991.2:p.(Arg115Ter)	NC_000001.10:g.17355175G>A	(Likely) pathogenic	2 labs	508b5b5b8b
6:108197775 SEC63 G>A	6	108197775	108197775	G	A	SEC63	c.2027C>T	NM_007214.5	NP_009145.1:p.(Thr676Ile)	NC_000006.11:g.108197775G>A	(Likely) benign	2 labs	508e797c4a
1:43393245 SLC2A1 G>GGGTGAGAAAT	1	43393245	43393252	G	GGGTGAGAAAT	SLC2A1	c.1278+30_1278+31insATTTCTCACC	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43393251_43393252insAAATGGTGAG	(Likely) benign	3 labs	50abe92176
16:15818492 MYH11 C>T	16	15818492	15818492	C	T	MYH11	c.4137+12G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818492C>T	(Likely) benign	2 labs	50a4f40eed
22:31010332 TCN2 T>C	22	31010332	31010332	T	C	TCN2	c.428-4T>C	NM_000355.4	NP_000346.2:p.?	NC_000022.10:g.31010332T>C	(Likely) benign	2 labs	50c17479dc
16:2168022 PKD1 C>A	16	2168022	2168022	C	A	PKD1	c.971G>T	NM_001009944.3	NP_001009944.3:p.(Arg324Leu)	NC_000016.9:g.2168022C>A	(Likely) benign	3 labs	50cf6f5d63
3:121976253 CASR G>A	3	121976253	121976253	G	A	CASR	c.492+19G>A	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.121976253G>A	(Likely) benign	3 labs	50dc38579d
3:37034946 MLH1 G>A	3	37034946	37034946	G	A	MLH1	c.-93G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37034946G>A	(Likely) benign	3 labs	50f6d01747
2:179490061 TTN ATCT>A	2	179490061	179490067	ATCT	A	TTN	c.44484_44486del	NM_001267550.2	NP_001254479.2:p.(Glu14828del)	NC_000002.11:g.179490065_179490067del	VUS	4 labs	510d1cc8ed
12:56079084 ITGA7 C>G	12	56079084	56079084	C	G	ITGA7	c.3196-12G>C	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56079084C>G	(Likely) benign	2 labs	5115e864cf
5:140953563 DIAPH1 T>TGGAGGAGGAGGAGGA	5	140953563	140953597	T	TGGAGGAGGAGGAGGA	DIAPH1	c.1839_1853dup	NM_001314007.2	NP_001300936.1:p.(Pro616_Pro620dup)	NC_000005.9:g.140953583_140953597dup	(Likely) benign	2 labs	513a91140e
X:153668830 GDI1 C>T	X	153668830	153668830	C	T	GDI1	c.696C>T	NM_001493.3	NP_001484.1:p.(Gly232=)	NC_000023.10:g.153668830C>T	(Likely) benign	2 labs	514df774ac
8:11606364 GATA4 G>C	8	11606364	11606364	G	C	GATA4	c.617-61G>C	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11606364G>C	(Likely) benign	3 labs	5131bd37c6
12:94772743 CEP83 G>A	12	94772743	94772743	G	A	CEP83	c.625C>T	NM_016122.3	NP_057206.2:p.(Arg209Ter)	NC_000012.11:g.94772743G>A	(Likely) pathogenic	2 labs	514f321548
18:59805532 PIGN T>C	18	59805532	59805532	T	C	PIGN	c.1117-1A>G	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59805532T>C	(Likely) benign	2 labs	51b788f40b
1:158587390 SPTA1 C>T	1	158587390	158587390	C	T	SPTA1	c.6549-12G>A	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158587390C>T	(Likely) benign	2 labs	51ba84277a
5:1282746 TERT C>T	5	1282746	1282746	C	T	TERT	c.1574-7G>A	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1282746C>T	(Likely) benign	2 labs	51ca88d341
3:37067120 MLH1 T>TTTTTTTTA	3	37067120	37067121	T	TTTTTTTTA	MLH1	c.1039-8_1039-7insTTTTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTTTTA	(Likely) benign	3 labs	cf37898705
2:179613962 TTN C>T	2	179613962	179613962	C	T	TTN	c.13165G>A	NM_133379.5	NP_596870.2:p.(Val4389Ile)	NC_000002.11:g.179613962C>T	(Likely) benign	4 labs	cf3b2b748a
9:139396181 NOTCH1 T>C	9	139396181	139396181	T	C	NOTCH1	c.5638+19A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139396181T>C	(Likely) benign	3 labs	51e4bd1290
4:78987157 FRAS1 A>G	4	78987157	78987157	A	G	FRAS1	c.95A>G	NM_025074.7	NP_079350.5:p.(Asp32Gly)	NC_000004.11:g.78987157A>G	(Likely) benign	2 labs	51f87529c5
16:89371724 ANKRD11 G>A	16	89371724	89371724	G	A	ANKRD11	c.116C>T	NM_013275.6	NP_037407.4:p.(Thr39Ile)	NC_000016.9:g.89371724G>A	(Likely) benign	3 labs	5208bf8206
11:134128923 ACAD8 C>G	11	134128923	134128923	C	G	ACAD8	c.512C>G	NM_014384.2	NP_055199.1:p.(Ser171Cys)	NC_000011.9:g.134128923C>G	(Likely) benign	2 labs	51fe0713b8
9:137591818 COL5A1 C>A	9	137591818	137591818	C	A	COL5A1	c.341C>A	NM_000093.5	NP_000084.3:p.(Ala114Asp)	NC_000009.11:g.137591818C>A	(Likely) benign	2 labs	5209e4e1dd
20:47990521 KCNB1 C>T	20	47990521	47990521	C	T	KCNB1	c.1576G>A	NM_004975.4	NP_004966.1:p.(Val526Ile)	NC_000020.10:g.47990521C>T	(Likely) benign	2 labs	5221a68c13
16:3299736 MEFV C>T	16	3299736	3299736	C	T	MEFV	c.955G>A	NM_000243.3	NP_000234.1:p.(Glu319Lys)	NC_000016.9:g.3299736C>T	VUS	2 labs	5227a65628
16:50745996 NOD2 C>G	16	50745996	50745996	C	G	NOD2	c.2174C>G	NM_022162.1	NP_071445.1:p.(Ala725Gly)	NC_000016.9:g.50745996C>G	(Likely) benign	2 labs	521b87f99c
2:179431541 TTN G>A	2	179431541	179431541	G	A	TTN	c.79318C>T	NM_001267550.2	NP_001254479.2:p.(Arg26440Cys)	NC_000002.11:g.179431541G>A	(Likely) benign	6 labs	cf3d449390
11:65636053 EFEMP2 T>C	11	65636053	65636053	T	C	EFEMP2	c.775A>G	NM_016938.5	NP_058634.4:p.(Ile259Val)	NC_000011.9:g.65636053T>C	(Likely) benign	4 labs	cf43f51d11
20:42249479 IFT52 C>CTT	20	42249479	42249489	C	CTT	IFT52	c.700-9_700-8dup	NM_001303458.3	NP_001290387.1:p.?	NC_000020.10:g.42249488_42249489dup	(Likely) benign	2 labs	525b63c895
1:27121019 PIGV C>A	1	27121019	27121019	C	A	PIGV	c.494C>A	NM_001202554.2	NP_001189483.1:p.(Ala165Glu)	NC_000001.10:g.27121019C>A	(Likely) pathogenic	4 labs	528569d3a5
7:73455561 ELN C>T	7	73455561	73455561	C	T	ELN	c.212C>T	NM_000501.4	NP_000492.2:p.(Ala71Val)	NC_000007.13:g.73455561C>T	(Likely) benign	2 labs	527e730090
2:179474202 TTN T>C	2	179474202	179474202	T	C	TTN	c.51835A>G	NM_001267550.2	NP_001254479.2:p.(Ile17279Val)	NC_000002.11:g.179474202T>C	VUS	2 labs	529b96dc5e
2:73828538 ALMS1 G>A	2	73828538	73828538	G	A	ALMS1	c.12092G>A	NM_015120.4	NP_055935.4:p.(Arg4031Lys)	NC_000002.11:g.73828538G>A	(Likely) benign	4 labs	52a7e4dc35
2:179611107 TTN A>G	2	179611107	179611107	A	G	TTN	c.16020T>C	NM_133379.5	NP_596870.2:p.(His5340=)	NC_000002.11:g.179611107A>G	(Likely) benign	5 labs	cf478c4a09
3:33174168 CRTAP G>A	3	33174168	33174168	G	A	CRTAP	c.1044G>A	NM_006371.5	NP_006362.1:p.(Ser348=)	NC_000003.11:g.33174168G>A	(Likely) benign	2 labs	cf4b88ee90
2:228172583 COL4A3 GTTTTC>G	2	228172583	228172597	GTTTTC	G	COL4A3	c.4420_4424del	NM_000091.5	NP_000082.2:p.(Leu1474CysfsTer34)	NC_000002.11:g.228172593_228172597del	(Likely) pathogenic	2 labs	52d68686b0
5:89989802 ADGRV1 A>G	5	89989802	89989802	A	G	ADGRV1	c.7229A>G	NM_032119.4	NP_115495.3:p.(Tyr2410Cys)	NC_000005.9:g.89989802A>G	(Likely) benign	2 labs	52decf2994
13:32900471 BRCA2 A>G	13	32900471	32900471	A	G	BRCA2	c.516+52A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900471A>G	(Likely) benign	3 labs	52ea535fc0
2:216300405 FN1 A>C	2	216300405	216300405	A	C	FN1	c.121T>G	NM_212482.2	NP_997647.1:p.(Ser41Ala)	NC_000002.11:g.216300405A>C	(Likely) benign	2 labs	52f463f72b
16:2156951 PKD1 T>C	16	2156951	2156951	T	C	PKD1	c.7066-2A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156951T>C	(Likely) pathogenic	2 labs	5300d2a7f8
13:32910328 BRCA2 T>C	13	32910328	32910328	T	C	BRCA2	c.1910-74T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32910328T>C	(Likely) benign	2 labs	5302eff05f
17:48148852 ITGA3 C>T	17	48148852	48148852	C	T	ITGA3	c.929C>T	NM_002204.4	NP_002195.1:p.(Ala310Val)	NC_000017.10:g.48148852C>T	(Likely) benign	2 labs	531e70822a
19:11221324 LDLR G>A	19	11221324	11221324	G	A	LDLR	c.941-4G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221324G>A	(Likely) benign	2 labs	5313ddeb76
17:76121864 TMC6 A>G	17	76121864	76121864	A	G	TMC6	c.373T>C	NM_001127198.5	NP_001120670.1:p.(Trp125Arg)	NC_000017.10:g.76121864A>G	(Likely) benign	2 labs	cf4beb2c10
X:47058450 UBA1 A>C	X	47058450	47058450	A	C	UBA1	c.121A>C	NM_003334.4	NP_003325.2:p.(Met41Leu)	NC_000023.10:g.47058450A>C	(Likely) pathogenic	2 labs	cf50796c83
11:9861208 SBF2 G>C	11	9861208	9861208	G	C	SBF2	c.3292C>G	NM_030962.4	NP_112224.1:p.(Leu1098Val)	NC_000011.9:g.9861208G>C	(Likely) benign	2 labs	533abd064a
16:1642177 IFT140 C>T	16	1642177	1642177	C	T	IFT140	c.634G>A	NM_014714.4	NP_055529.2:p.(Gly212Arg)	NC_000016.9:g.1642177C>T	(Likely) pathogenic	2 labs	5391436c1a
12:116421186 MED13L G>A	12	116421186	116421186	G	A	MED13L	c.4691C>T	NM_015335.4	NP_056150.1:p.(Pro1564Leu)	NC_000012.11:g.116421186G>A	(Likely) benign	2 labs	53b0cad5e5
2:152543967 NEB A>G	2	152543967	152543967	A	G	NEB	c.2603T>C	NM_001271208.1	NP_001258137.1:p.(Leu868Pro)	NC_000002.11:g.152543967A>G	(Likely) benign	2 labs	53b68c50f5
10:17164772 CUBN CA>C	10	17164772	17164788	CA	C	CUBN	c.593+21del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17164788del	(Likely) benign	2 labs	580e58b86e
X:99605663 PCDH19 G>A	X	99605663	99605663	G	A	PCDH19	c.2656C>T	NM_001184880.2	NP_001171809.1:p.(Arg886Ter)	NC_000023.10:g.99605663G>A	(Likely) pathogenic	2 labs	53cd9dad75
2:179411327 TTN C>T	2	179411327	179411327	C	T	TTN	c.94828G>A	NM_001267550.1	NP_001254479.1:p.(Ala31610Thr)	NC_000002.11:g.179411327C>T	VUS	2 labs	53d5bef68b
2:109388334 RANBP2 CTT>C	2	109388334	109388338	CTT	C	RANBP2	c.8020+10_8020+11del	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109388337_109388338del	(Likely) benign	2 labs	53def1a4be
7:77789464 MAGI2 G>C	7	77789464	77789464	G	C	MAGI2	c.2723C>G	NM_012301.4	NP_036433.2:p.(Pro908Arg)	NC_000007.13:g.77789464G>C	VUS	2 labs	53eba498c2
1:237666636 RYR2 C>T	1	237666636	237666636	C	T	RYR2	c.2444C>T	NM_001035.3	NP_001026.2:p.(Pro815Leu)	NC_000001.10:g.237666636C>T	VUS	2 labs	53f60b565a
3:32200566 GPD1L C>T	3	32200566	32200566	C	T	GPD1L	c.817C>T	NM_015141.4	NP_055956.1:p.(Arg273Cys)	NC_000003.11:g.32200566C>T	VUS	3 labs	cf6c8b7939
2:179398156 TTN A>G	2	179398156	179398156	A	G	TTN	c.103186T>C	NM_001267550.2	NP_001254479.2:p.(Trp34396Arg)	NC_000002.11:g.179398156A>G	VUS	2 labs	543d7af6c9
9:4118388 GLIS3 G>A	9	4118388	4118388	G	A	GLIS3	c.1090C>T	NM_001042413.2	NP_001035878.1:p.(Pro364Ser)	NC_000009.11:g.4118388G>A	(Likely) benign	3 labs	543de43d89
1:201337309 TNNT2 G>A	1	201337309	201337309	G	A	TNNT2	c.114C>T	NM_001276347.2	NP_001263276.1:p.(Thr38=)	NC_000001.10:g.201337309G>A	(Likely) benign	3 labs	5494bb5d5c
9:116153900 ALAD A>G	9	116153900	116153900	A	G	ALAD	c.168T>C	NM_000031.6	NP_000022.3:p.(Tyr56=)	NC_000009.11:g.116153900A>G	(Likely) benign	3 labs	54d4b3f965
9:130425623 STXBP1 G>A	9	130425623	130425623	G	A	STXBP1	c.569G>A	NM_003165.6	NP_003156.1:p.(Arg190Gln)	NC_000009.11:g.130425623G>A	(Likely) pathogenic	3 labs	54c35fbe06
X:40464822 ATP6AP2 G>C	X	40464822	40464822	G	C	ATP6AP2	c.868G>C	NM_005765.3	NP_005756.2:p.(Ala290Pro)	NC_000023.10:g.40464822G>C	(Likely) benign	2 labs	54ec221859
20:10626698 JAG1 G>A	20	10626698	10626698	G	A	JAG1	c.1920C>T	NM_000214.3	NP_000205.1:p.(Asn640=)	NC_000020.10:g.10626698G>A	(Likely) benign	2 labs	54f85080f3
13:32911746 BRCA2 A>G	13	32911746	32911746	A	G	BRCA2	c.3254A>G	NM_000059.3	NP_000050.2:p.(His1085Arg)	NC_000013.10:g.32911746A>G	(Likely) benign	2 labs	55179b9042
19:36342212 NPHS1 C>T	19	36342212	36342212	C	T	NPHS1	c.349G>A	NM_004646.4	NP_004637.1:p.(Glu117Lys)	NC_000019.9:g.36342212C>T	(Likely) benign	3 labs	5526c4a113
9:6592870 GLDC C>T	9	6592870	6592870	C	T	GLDC	c.1382G>A	NM_000170.2	NP_000161.2:p.(Arg461Gln)	NC_000009.11:g.6592870C>T	(Likely) pathogenic	2 labs	5534c74ed0
16:72057421 DHODH C>T	16	72057421	72057421	C	T	DHODH	c.1022C>T	NM_001361.4	NP_001352.2:p.(Ala341Val)	NC_000016.9:g.72057421C>T	(Likely) benign	2 labs	553946cf41
18:10704637 PIEZO2 C>T	18	10704637	10704637	C	T	PIEZO2	c.5674G>A	NM_022068.4	NP_071351.2:p.(Asp1892Asn)	NC_000018.9:g.10704637C>T	(Likely) benign	3 labs	553f86127c
15:35084477 ACTC1 G>A	15	35084477	35084477	G	A	ACTC1	c.622C>T	NM_005159.5	NP_005150.1:p.(Arg208Cys)	NC_000015.9:g.35084477G>A	VUS	2 labs	5554fd6478
X:107975887 IRS4 C>A	X	107975887	107975887	C	A	IRS4	c.3688G>T	NM_003604.2	NP_003595.1:p.(Asp1230Tyr)	NC_000023.10:g.107975887C>A	(Likely) benign	2 labs	556b40c6d4
2:238287746 COL6A3 C>T	2	238287746	238287746	C	T	COL6A3	c.2030G>A	NM_004369.3	NP_004360.2:p.(Arg677His)	NC_000002.11:g.238287746C>T	(Likely) benign	2 labs	558269e928
1:3321293 PRDM16 C>T	1	3321293	3321293	C	T	PRDM16	c.885-10C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3321293C>T	(Likely) benign	2 labs	55bb55943e
18:59713173 PIGN A>C	18	59713173	59713173	A	C	PIGN	c.2712T>G	NM_176787.4	NP_789744.1:p.(Phe904Leu)	NC_000018.9:g.59713173A>C	(Likely) benign	2 labs	55f644a922
13:39453010 FREM2 G>A	13	39453010	39453010	G	A	FREM2	c.8902G>A	NM_207361.6	NP_997244.4:p.(Val2968Ile)	NC_000013.10:g.39453010G>A	(Likely) benign	2 labs	55fd75d058
19:33980963 PEPD G>A	19	33980963	33980963	G	A	PEPD	c.442C>T	NM_000285.4	NP_000276.2:p.(Arg148Cys)	NC_000019.9:g.33980963G>A	(Likely) benign	3 labs	5603f28644
16:1608005 IFT140 A>C	16	1608005	1608005	A	C	IFT140	c.2330T>G	NM_014714.4	NP_055529.2:p.(Leu777Arg)	NC_000016.9:g.1608005A>C	(Likely) benign	2 labs	5611090716
2:179452242 TTN C>T	2	179452242	179452242	C	T	TTN	c.63793+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179452242C>T	(Likely) pathogenic	2 labs	cf7eea3f38
17:56285216 MKS1 G>A	17	56285216	56285216	G	A	MKS1	c.1273+39C>T	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56285216G>A	(Likely) benign	2 labs	5dabf9b306
18:19751960 GATA6 G>T	18	19751960	19751960	G	T	GATA6	c.855G>T	NM_005257.5	NP_005248.2:p.(Ala285=)	NC_000018.9:g.19751960G>T	(Likely) benign	2 labs	562ede4028
12:6167196 VWF A>G	12	6167196	6167196	A	G	VWF	c.1548T>C	NM_000552.4	NP_000543.2:p.(Tyr516=)	NC_000012.11:g.6167196A>G	(Likely) benign	2 labs	5636a26bbf
12:88533350 CEP290 T>TA	12	88533350	88533357	T	TA	CEP290	c.181-10dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88533357dup	(Likely) benign	2 labs	564a7e122b
15:45670570 GATM G>A	15	45670570	45670570	G	A	GATM	c.69+13C>T	NM_001482.3	NP_001473.1:p.?	NC_000015.9:g.45670570G>A	(Likely) benign	3 labs	567e1e0d95
16:15812291 MYH11 C>T	16	15812291	15812291	C	T	MYH11	c.5197G>A	NM_001040113.2	NP_001035202.1:p.(Ala1733Thr)	NC_000016.9:g.15812291C>T	(Likely) benign	2 labs	567f3d2258
2:227661921 IRS1 C>G	2	227661921	227661921	C	G	IRS1	c.1534G>C	NM_005544.3	NP_005535.1:p.(Ala512Pro)	NC_000002.11:g.227661921C>G	(Likely) benign	2 labs	5665b84485
19:50906291 POLD1 G>A	19	50906291	50906291	G	A	POLD1	c.971-19G>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50906291G>A	(Likely) benign	2 labs	56a128370c
1:154569763 ADAR G>A	1	154569763	154569763	G	A	ADAR	c.1050-20C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154569763G>A	(Likely) benign	2 labs	56da469c65
2:227895169 COL4A4 A>G	2	227895169	227895169	A	G	COL4A4	c.3963T>C	NM_000092.4	NP_000083.3:p.(Asp1321=)	NC_000002.11:g.227895169A>G	(Likely) benign	2 labs	56e77be02b
12:110760727 ATP2A2 C>A	12	110760727	110760727	C	A	ATP2A2	c.464-70C>A	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110760727C>A	(Likely) benign	3 labs	56ed1c2ee6
16:3293195 MEFV C>A	16	3293195	3293195	C	A	MEFV	c.2292G>T	NM_000243.3	NP_000234.1:p.(Gly764=)	NC_000016.9:g.3293195C>A	VUS	2 labs	56f55ee3c6
10:90762801 FAS G>A	10	90762801	90762801	G	A	FAS	c.46G>A	NM_000043.6	NP_000034.1:p.(Ala16Thr)	NC_000010.10:g.90762801G>A	(Likely) benign	2 labs	56ebca11af
11:47360104 MYBPC3 C>T	11	47360104	47360104	C	T	MYBPC3	c.2275G>A	NM_000256.3	NP_000247.2:p.(Glu759Lys)	NC_000011.9:g.47360104C>T	VUS	3 labs	5706634d6b
X:100630190 BTK C>T	X	100630190	100630190	C	T	BTK	c.83G>A	NM_000061.3	NP_000052.1:p.(Arg28His)	NC_000023.10:g.100630190C>T	(Likely) pathogenic	2 labs	571cbc3aff
6:51947313 PKHD1 T>C	6	51947313	51947313	T	C	PKHD1	c.158A>G	NM_138694.4	NP_619639.3:p.(Asn53Ser)	NC_000006.11:g.51947313T>C	(Likely) benign	2 labs	5716ae67bf
2:45233463 SIX2 G>A	2	45233463	45233463	G	A	SIX2	c.722C>T	NM_016932.5	NP_058628.3:p.(Pro241Leu)	NC_000002.11:g.45233463G>A	(Likely) benign	2 labs	571a467ff8
12:88512485 CEP290 A>G	12	88512485	88512485	A	G	CEP290	c.1558T>C	NM_025114.4	NP_079390.3:p.(Phe520Leu)	NC_000012.11:g.88512485A>G	(Likely) benign	2 labs	571bd0c408
10:75855425 VCL A>C	10	75855425	75855425	A	C	VCL	c.1555A>C	NM_014000.3	NP_054706.1:p.(Ile519Leu)	NC_000010.10:g.75855425A>C	(Likely) benign	4 labs	cf8ab739fe
10:70190248 DNA2 C>A	10	70190248	70190248	C	A	DNA2	c.2153G>T	NM_001080449.3	NP_001073918.2:p.(Cys718Phe)	NC_000010.10:g.70190248C>A	(Likely) benign	2 labs	5745b29004
21:45705988 AIRE T>C	21	45705988	45705988	T	C	AIRE	c.99T>C	NM_000383.4	NP_000374.1:p.(Ala33=)	NC_000021.8:g.45705988T>C	(Likely) benign	3 labs	5761297bd7
20:62070977 KCNQ2 C>T	20	62070977	62070977	C	T	KCNQ2	c.901G>A	NM_172107.4	NP_742105.1:p.(Gly301Ser)	NC_000020.10:g.62070977C>T	(Likely) pathogenic	2 labs	5757877442
1:10386367 KIF1B C>T	1	10386367	10386367	C	T	KIF1B	c.2874C>T	NM_001365951.3	NP_001352880.1:p.(Asp958=)	NC_000001.10:g.10386367C>T	(Likely) benign	2 labs	576aaf3637
16:81888152 PLCG2 A>G	16	81888152	81888152	A	G	PLCG2	c.297A>G	NM_002661.5	NP_002652.2:p.(Leu99=)	NC_000016.9:g.81888152A>G	(Likely) benign	3 labs	5772cfa784
16:28890092 ATP2A1 G>T	16	28890092	28890092	G	T	ATP2A1				NC_000016.9:g.28890092G>T	(Likely) pathogenic	2 labs	57a89c270b
19:49671260 TRPM4 G>C	19	49671260	49671260	G	C	TRPM4	c.354G>C	NM_017636.4	NP_060106.2:p.(Val118=)	NC_000019.9:g.49671260G>C	(Likely) benign	2 labs	57a1e84e9a
9:130587536 ENG C>T	9	130587536	130587536	C	T	ENG	c.790G>A	NM_000118.3	NP_000109.1:p.(Asp264Asn)	NC_000009.11:g.130587536C>T	VUS	3 labs	57c0d45dc2
1:165712555 TMCO1 G>A	1	165712555	165712555	G	A	TMCO1	c.288-7C>T	NM_001256165.1	NP_001243094.1:p.?	NC_000001.10:g.165712555G>A	(Likely) benign	2 labs	57d4df5f20
17:41201105 BRCA1 T>A	17	41201105	41201105	T	A	BRCA1	c.5406+33A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201105T>A	(Likely) benign	3 labs	57fe3dc36f
2:227922314 COL4A4 GC>G	2	227922314	227922317	GC	G	COL4A4	c.2385del	NM_000092.5	NP_000083.3:p.(Pro796GlnfsTer8)	NC_000002.11:g.227922317del	(Likely) pathogenic	2 labs	5805e669d5
13:39262669 FREM2 G>C	13	39262669	39262669	G	C	FREM2	c.1188G>C	NM_207361.6	NP_997244.4:p.(Gln396His)	NC_000013.10:g.39262669G>C	(Likely) benign	2 labs	580f95998a
17:7979005 ALOX12B T>C	17	7979005	7979005	T	C	ALOX12B	c.1562A>G	NM_001139.3	NP_001130.1:p.(Tyr521Cys)	NC_000017.10:g.7979005T>C	(Likely) pathogenic	2 labs	5811d4a972
2:224642493 AP1S3 G>A	2	224642493	224642493	G	A	AP1S3	c.97C>T	NM_001039569.2	NP_001034658.1:p.(Arg33Trp)	NC_000002.11:g.224642493G>A	(Likely) benign	2 labs	5824fe5ee7
16:56938301 SLC12A3 G>A	16	56938301	56938301	G	A	SLC12A3	c.2884-6G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56938301G>A	(Likely) benign	2 labs	58320d67a2
12:33030896 PKP2 G>A	12	33030896	33030896	G	A	PKP2	c.918C>T	NM_004572.3	NP_004563.2:p.(Pro306=)	NC_000012.11:g.33030896G>A	(Likely) benign	2 labs	5832f7967f
19:3633464 PIP5K1C G>A	19	3633464	3633464	G	A	PIP5K1C	c.1975C>T	NM_012398.3	NP_036530.1:p.(Pro659Ser)	NC_000019.9:g.3633464G>A	(Likely) benign	3 labs	5815a54b1e
10:96058298 PLCE1 C>T	10	96058298	96058298	C	T	PLCE1	c.5330C>T	NM_016341.4	NP_057425.3:p.(Thr1777Ile)	NC_000010.10:g.96058298C>T	(Likely) benign	2 labs	583a3d0898
7:117149181 CFTR CTT>C	7	117149181	117149186	CTT	C	CFTR	c.262_263del	NM_000492.4	NP_000483.3:p.(Leu88IlefsTer22)	NC_000007.13:g.117149185_117149186del	(Likely) pathogenic	3 labs	cfa91fd3d5
22:17669339 ADA2 T>C	22	17669339	17669339	T	C	ADA2	c.973-2A>G	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17669339T>C	(Likely) pathogenic	3 labs	5839bf330c
2:220419339 OBSL1 T>C	2	220419339	220419339	T	C	OBSL1	c.4733A>G	NM_015311.3	NP_056126.1:p.(Gln1578Arg)	NC_000002.11:g.220419339T>C	(Likely) benign	2 labs	cfa9b6b8a2
22:29130427 CHEK2 G>A	22	29130427	29130427	G	A	CHEK2	c.283C>T	NM_007194.4	NP_009125.1:p.(Arg95Ter)	NC_000022.10:g.29130427G>A	(Likely) pathogenic	3 labs	586703523f
2:179659232 TTN G>A	2	179659232	179659232	G	A	TTN	c.1292C>T	NM_001267550.2	NP_001254479.2:p.(Ala431Val)	NC_000002.11:g.179659232G>A	VUS	3 labs	58a4078277
6:152749494 SYNE1 C>T	6	152749494	152749494	C	T	SYNE1	c.4822G>A	NM_182961.4	NP_892006.3:p.(Ala1608Thr)	NC_000006.11:g.152749494C>T	(Likely) benign	3 labs	cfaabce181
2:179516707 TTN G>A	2	179516707	179516707	G	A	TTN	c.39296-13C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516707G>A	(Likely) benign	2 labs	cfadc2afbf
2:20141557 WDR35 A>C	2	20141557	20141557	A	C	WDR35	c.1889T>G	NM_020779.4	NP_065830.2:p.(Leu630Ter)	NC_000002.11:g.20141557A>C	(Likely) pathogenic	2 labs	58b2623a20
2:179477966 TTN G>A	2	179477966	179477966	G	A	TTN	c.49570C>T	NM_001267550.2	NP_001254479.2:p.(Arg16524Cys)	NC_000002.11:g.179477966G>A	VUS	3 labs	58a8435041
2:166170127 SCN2A T>C	2	166170127	166170127	T	C	SCN2A	c.1035-3T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166170127T>C	(Likely) benign	2 labs	58d87f1ef7
2:228012119 COL4A4 G>A	2	228012119	228012119	G	A	COL4A4	c.71+10C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228012119G>A	(Likely) benign	2 labs	58e82b9e32
11:47357481 MYBPC3 C>T	11	47357481	47357481	C	T	MYBPC3	c.2684G>A	NM_000256.3	NP_000247.2:p.(Arg895His)	NC_000011.9:g.47357481C>T	VUS	2 labs	58dcba140c
2:166894441 SCN1A G>A	2	166894441	166894441	G	A	SCN1A	c.2791C>T	NM_001165963.4	NP_001159435.1:p.(Arg931Cys)	NC_000002.11:g.166894441G>A	(Likely) pathogenic	2 labs	58f891c0a1
7:128487747 FLNC A>C	7	128487747	128487747	A	C	FLNC	c.4289-4A>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487747A>C	(Likely) benign	2 labs	58f33c41f2
2:73800382 ALMS1 CT>C	2	73800382	73800386	CT	C	ALMS1	c.11385del	NM_015120.4	NP_055935.4:p.(Phe3795LeufsTer38)	NC_000002.11:g.73800386del	(Likely) pathogenic	3 labs	cfb25b5369
4:79166478 FRAS1 A>T	4	79166478	79166478	A	T	FRAS1	c.308A>T	NM_025074.7	NP_079350.5:p.(Glu103Val)	NC_000004.11:g.79166478A>T	(Likely) benign	2 labs	5923d768ee
1:78408292 NEXN G>A	1	78408292	78408292	G	A	NEXN	c.1806G>A	NM_144573.3	NP_653174.3:p.(Thr602=)	NC_000001.10:g.78408292G>A	(Likely) benign	2 labs	59259b0ca4
16:81942028 PLCG2 C>G	16	81942028	81942028	C	G	PLCG2	c.1565C>G	NM_002661.5	NP_002652.2:p.(Pro522Arg)	NC_000016.9:g.81942028C>G	(Likely) benign	3 labs	5924b57525
5:35871190 IL7R G>A	5	35871190	35871190	G	A	IL7R	c.412G>A	NM_002185.5	NP_002176.2:p.(Val138Ile)	NC_000005.9:g.35871190G>A	(Likely) benign	2 labs	5949132d2e
17:7606714 WRAP53 T>TG	17	7606714	7606721	T	TG	WRAP53	c.1564dup	NM_018081.2	NP_060551.2:p.(Ala522GlyfsTer8)	NC_000017.10:g.7606721dup	VUS	2 labs	5945f26be7
X:70443708 GJB1 T>C	X	70443708	70443708	T	C	GJB1	c.151T>C	NM_000166.6	NP_000157.1:p.(Phe51Leu)	NC_000023.10:g.70443708T>C	(Likely) pathogenic	2 labs	59855579d8
6:152540166 SYNE1 G>T	6	152540166	152540166	G	T	SYNE1	c.22016C>A	NM_182961.4	NP_892006.3:p.(Ala7339Asp)	NC_000006.11:g.152540166G>T	VUS	2 labs	599fae1bb2
6:7579569 DSP C>G	6	7579569	7579569	C	G	DSP	c.3146C>G	NM_004415.2	NP_004406.2:p.(Ser1049Trp)	NC_000006.11:g.7579569C>G	VUS	2 labs	59bb2872c2
2:191872307 STAT1 G>A	2	191872307	191872307	G	A	STAT1	c.354C>T	NM_007315.3	NP_009330.1:p.(Asn118=)	NC_000002.11:g.191872307G>A	(Likely) benign	2 labs	59bebd3e96
3:121981215 CASR A>G	3	121981215	121981215	A	G	CASR	c.1333A>G	NM_001178065.2	NP_001171536.2:p.(Thr445Ala)	NC_000003.11:g.121981215A>G	(Likely) benign	2 labs	59c2d44add
14:95571479 DICER1 A>G	14	95571479	95571479	A	G	DICER1	c.3198T>C	NM_177438.3	NP_803187.1:p.(Thr1066=)	NC_000014.8:g.95571479A>G	(Likely) benign	2 labs	59cccf9e4c
20:43034732 HNF4A G>A	20	43034732	43034732	G	A	HNF4A	c.75G>A	NM_001287182.2	NP_001274111.1:p.(Ala25=)	NC_000020.10:g.43034732G>A	(Likely) benign	2 labs	59fa46cb07
2:163124596 IFIH1 C>T	2	163124596	163124596	C	T	IFIH1	c.2807+1G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163124596C>T	(Likely) benign	3 labs	5a0463e113
19:46269076 SIX5 G>A	19	46269076	46269076	G	A	SIX5	c.1903C>T	NM_175875.4	NP_787071.2:p.(Pro635Ser)	NC_000019.9:g.46269076G>A	(Likely) benign	2 labs	5a04437d2f
17:56296053 MKS1 G>A	17	56296053	56296053	G	A	MKS1	c.118C>T	NM_017777.4	NP_060247.2:p.(His40Tyr)	NC_000017.10:g.56296053G>A	(Likely) benign	2 labs	5a02b19148
3:38645378 SCN5A G>T	3	38645378	38645378	G	T	SCN5A	c.1715C>A	NM_001099404.2	NP_001092874.1:p.(Ala572Asp)	NC_000003.11:g.38645378G>T	(Likely) benign	5 labs	5a52a6667f
9:137676850 COL5A1 C>T	9	137676850	137676850	C	T	COL5A1	c.2500C>T	NM_000093.4	NP_000084.3:p.(Pro834Ser)	NC_000009.11:g.137676850C>T	VUS	2 labs	5a783f0deb
13:52524268 ATP7B C>T	13	52524268	52524268	C	T	ATP7B	c.2605G>A	NM_000053.4	NP_000044.2:p.(Gly869Arg)	NC_000013.10:g.52524268C>T	VUS	2 labs	5a784cb10d
16:51171204 SALL1 C>T	16	51171204	51171204	C	T	SALL1	c.3794G>A	NM_002968.3	NP_002959.2:p.(Gly1265Glu)	NC_000016.9:g.51171204C>T	(Likely) benign	4 labs	cfd2f61aee
2:179550270 TTN C>T	2	179550270	179550270	C	T	TTN	c.32367G>A	NM_001267550.2	NP_001254479.2:p.(Lys10789=)	NC_000002.11:g.179550270C>T	(Likely) benign	2 labs	5a78b704ec
20:60911398 LAMA5 G>A	20	60911398	60911398	G	A	LAMA5	c.2321C>T	NM_005560.4	NP_005551.3:p.(Thr774Ile)	NC_000020.10:g.60911398G>A	(Likely) benign	2 labs	5a915b00f9
22:36678816 MYH9 C>A	22	36678816	36678816	C	A	MYH9	c.5781G>T	NM_002473.5	NP_002464.1:p.(Pro1927=)	NC_000022.10:g.36678816C>A	(Likely) benign	3 labs	5a98a79d5d
17:17122286 FLCN C>T	17	17122286	17122286	C	T	FLCN	c.1062+47G>A	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17122286C>T	(Likely) benign	2 labs	5ab834583c
1:26378393 TRIM63 TAC>T	1	26378393	26378396	TAC	T	TRIM63	c.1052-21_1052-20del	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26378395_26378396del	(Likely) benign	2 labs	5ad81d8c4f
14:58949289 KIAA0586 C>A	14	58949289	58949289	C	A	KIAA0586	c.3162C>A	NM_001244189.2	NP_001231118.1:p.(Asn1054Lys)	NC_000014.8:g.58949289C>A	(Likely) benign	2 labs	5af97e4268
12:52188417 SCN8A C>G	12	52188417	52188417	C	G	SCN8A	c.4787C>G	NM_014191.4	NP_055006.1:p.(Ser1596Cys)	NC_000012.11:g.52188417C>G	(Likely) pathogenic	2 labs	5b21a30524
1:196696078 CFH T>A	1	196696078	196696078	T	A	CFH	c.2236+8T>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196696078T>A	(Likely) benign	2 labs	5b307eeca8
8:145004474 PLEC G>A	8	145004474	145004474	G	A	PLEC	c.2869-8C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145004474G>A	(Likely) benign	3 labs	5b3ec8a5c1
4:5812778 EVC G>A	4	5812778	5812778	G	A	EVC	c.*14G>A	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5812778G>A	(Likely) benign	2 labs	cfde143055
16:49672775 ZNF423 G>A	16	49672775	49672775	G	A	ZNF423	c.108C>T	NM_001271620.2	NP_001258549.1:p.(Asp36=)	NC_000016.9:g.49672775G>A	(Likely) benign	2 labs	5b5b688d6f
22:32234828 DEPDC5 C>T	22	32234828	32234828	C	T	DEPDC5	c.2512C>T	NM_001242896.3	NP_001229825.1:p.(Arg838Ter)	NC_000022.10:g.32234828C>T	(Likely) pathogenic	2 labs	5b8104a868
3:182755209 MCCC1 T>G	3	182755209	182755209	T	G	MCCC1	c.1391A>C	NM_020166.5	NP_064551.3:p.(His464Pro)	NC_000003.11:g.182755209T>G	(Likely) benign	3 labs	5b97d49755
14:23873536 MYH6 T>C	14	23873536	23873536	T	C	MYH6	c.704A>G	NM_002471.4	NP_002462.2:p.(Lys235Arg)	NC_000014.8:g.23873536T>C	VUS	3 labs	cfe779cf32
2:179505367 TTN AAGATT>A	2	179505367	179505373	AAGATT	A	TTN	c.40634-15_40634-11del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179505369_179505373del	(Likely) benign	4 labs	5b94d5498a
11:6629353 ILK G>T	11	6629353	6629353	G	T	ILK	c.167G>T	NM_001014795.3	NP_001014795.1:p.(Arg56Leu)	NC_000011.9:g.6629353G>T	VUS	2 labs	5bc1444dba
13:35697716 NBEA GT>G	13	35697716	35697718	GT	G	NBEA	c.2336+7del	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.35697718del	(Likely) benign	2 labs	5bcce2f25f
5:112176541 APC C>G	5	112176541	112176541	C	G	APC				NC_000005.9:g.112176541C>G	(Likely) benign	2 labs	5bda1b2663
2:227924228 COL4A4 G>A	2	227924228	227924228	G	A	COL4A4	c.2276C>T	NM_000092.4	NP_000083.3:p.(Pro759Leu)	NC_000002.11:g.227924228G>A	(Likely) benign	2 labs	5be536ea5a
10:90773975 FAS T>C	10	90773975	90773975	T	C	FAS	c.776T>C	NM_000043.6	NP_000034.1:p.(Ile259Thr)	NC_000010.10:g.90773975T>C	(Likely) pathogenic	2 labs	5be9848b15
13:32910910 BRCA2 T>C	13	32910910	32910910	T	C	BRCA2	c.2418T>C	NM_000059.3	NP_000050.2:p.(Asp806=)	NC_000013.10:g.32910910T>C	(Likely) benign	2 labs	5c00c0ef5b
2:228149061 COL4A3 G>C	2	228149061	228149061	G	C	COL4A3	c.2881G>C	NM_000091.4	NP_000082.2:p.(Gly961Arg)	NC_000002.11:g.228149061G>C	(Likely) pathogenic	2 labs	5c1ede34c9
6:51921605 PKHD1 A>T	6	51921605	51921605	A	T	PKHD1	c.1603-19T>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51921605A>T	(Likely) benign	2 labs	5c2c86ded5
22:19470249 CDC45 G>A	22	19470249	19470249	G	A	CDC45	c.241G>A	NM_001178010.2	NP_001171481.1:p.(Val81Ile)	NC_000022.10:g.19470249G>A	(Likely) benign	2 labs	5c2d6a039a
16:81954789 PLCG2 C>G	16	81954789	81954789	C	G	PLCG2	c.2236-14C>G	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81954789C>G	(Likely) benign	3 labs	5c51ff52e4
12:53451877 TNS2 C>T	12	53451877	53451877	C	T	TNS2	c.1116C>T	NM_015319.2	NP_056134.2:p.(Gly372=)	NC_000012.11:g.53451877C>T	(Likely) benign	2 labs	5c444b8a22
16:3633105 SLX4 A>T	16	3633105	3633105	A	T	SLX4	c.5146T>A	NM_032444.4	NP_115820.2:p.(Ser1716Thr)	NC_000016.9:g.3633105A>T	(Likely) benign	2 labs	5c35718a91
3:75986717 ROBO2 G>A	3	75986717	75986717	G	A	ROBO2	c.73G>A	NM_001128929.3	NP_001122401.1:p.(Val25Met)	NC_000003.11:g.75986717G>A	(Likely) benign	2 labs	5c7c5facb6
14:58923419 KIAA0586 G>C	14	58923419	58923419	G	C	KIAA0586	c.1413-1G>C	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58923419G>C	(Likely) pathogenic	2 labs	5cb2f6f738
2:113888688 IL1RN G>T	2	113888688	113888688	G	T	IL1RN	c.170G>T	NM_173843.3	NP_776215.1:p.(Cys57Phe)	NC_000002.11:g.113888688G>T	VUS	2 labs	5cbe199dae
3:14176344 TMEM43 C>T	3	14176344	14176344	C	T	TMEM43	c.658C>T	NM_024334.2	NP_077310.1:p.(Arg220Cys)	NC_000003.11:g.14176344C>T	VUS	2 labs	5ce234be7b
5:127671182 FBN2 C>G	5	127671182	127671182	C	G	FBN2	c.3812G>C	NM_001999.4	NP_001990.2:p.(Gly1271Ala)	NC_000005.9:g.127671182C>G	VUS	2 labs	5cba12975c
4:88959475 PKD2 C>T	4	88959475	88959475	C	T	PKD2	c.916C>T	NM_000297.4	NP_000288.1:p.(Arg306Ter)	NC_000004.11:g.88959475C>T	(Likely) pathogenic	2 labs	5ceae83436
5:147505410 SPINK5 T>C	5	147505410	147505410	T	C	SPINK5	c.2864T>C	NM_006846.3	NP_006837.2:p.(Val955Ala)	NC_000005.9:g.147505410T>C	(Likely) benign	2 labs	5cebf13753
11:111959705 SDHD T>C	11	111959705	111959705	T	C	SDHD	c.284T>C	NM_003002.4	NP_002993.1:p.(Leu95Pro)	NC_000011.9:g.111959705T>C	(Likely) pathogenic	2 labs	5cf7b662e5
11:108141873 ATM C>T	11	108141873	108141873	C	T	ATM	c.2921C>T	NM_000051.4	NP_000042.3:p.(Ser974Phe)	NC_000011.9:g.108141873C>T	VUS	2 labs	5d2a08613d
3:38645522 SCN5A G>T	3	38645522	38645522	G	T	SCN5A	c.1571C>A	NM_001099404.2	NP_001092874.1:p.(Ser524Tyr)	NC_000003.11:g.38645522G>T	(Likely) benign	4 labs	d00cc7129d
X:23398373 PTCHD1 T>C	X	23398373	23398373	T	C	PTCHD1	c.1012+5T>C	NM_173495.3	NP_775766.2:p.?	NC_000023.10:g.23398373T>C	(Likely) benign	3 labs	5d9e7be0c5
16:50746154 NOD2 G>A	16	50746154	50746154	G	A	NOD2	c.2332G>A	NM_022162.3	NP_071445.1:p.(Glu778Lys)	NC_000016.9:g.50746154G>A	(Likely) benign	2 labs	d00e66fa46
12:33031203 PKP2 C>T	12	33031203	33031203	C	T	PKP2	c.611G>A	NM_004572.4	NP_004563.2:p.(Arg204His)	NC_000012.11:g.33031203C>T	(Likely) benign	2 labs	5d970a2221
7:151478451 PRKAG2 G>A	7	151478451	151478451	G	A	PRKAG2	c.253C>T	NM_016203.4	NP_057287.2:p.(Pro85Ser)	NC_000007.13:g.151478451G>A	VUS	3 labs	5dcb04b6dc
6:7569487 DSP G>A	6	7569487	7569487	G	A	DSP	c.1488G>A	NM_004415.4	NP_004406.2:p.(Thr496=)	NC_000006.11:g.7569487G>A	(Likely) benign	5 labs	d013062797
X:21996133 SMS A>G	X	21996133	21996133	A	G	SMS	c.561A>G	NM_004595.5	NP_004586.2:p.(Glu187=)	NC_000023.10:g.21996133A>G	(Likely) benign	2 labs	5dc365ce33
10:16932454 CUBN C>T	10	16932454	16932454	C	T	CUBN	c.8671G>A	NM_001081.3	NP_001072.2:p.(Val2891Ile)	NC_000010.10:g.16932454C>T	(Likely) benign	2 labs	5e0e32402b
5:74016442 HEXB G>A	5	74016442	74016442	G	A	HEXB	c.1509-26G>A	NM_000521.3	NP_000512.1:p.?	NC_000005.9:g.74016442G>A	(Likely) pathogenic	2 labs	5e1f6b314f
21:45709854 AIRE G>A	21	45709854	45709854	G	A	AIRE				NC_000021.8:g.45709854G>A	(Likely) benign	2 labs	5e2f6bffc6
12:56096816 ITGA7 T>C	12	56096816	56096816	T	C	ITGA7	c.334+19A>G	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56096816T>C	(Likely) benign	2 labs	5e5ed9ef7e
4:79351542 FRAS1 C>T	4	79351542	79351542	C	T	FRAS1	c.4940C>T	NM_025074.7	NP_079350.5:p.(Thr1647Ile)	NC_000004.11:g.79351542C>T	(Likely) benign	2 labs	5e415b823d
2:88895351 EIF2AK3 T>C	2	88895351	88895351	T	C	EIF2AK3	c.439-170A>G	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88895351T>C	(Likely) benign	2 labs	5e6c6a8531
16:2169161 PKD1 T>A	16	2169161	2169161	T	A	PKD1	c.313A>T	NM_001009944.2	NP_001009944.2:p.(Thr105Ser)	NC_000016.9:g.2169161T>A	(Likely) benign	2 labs	5e6808f021
17:73839908 UNC13D G>A	17	73839908	73839908	G	A	UNC13D	c.118-308C>T	NM_199242.3	NP_954712.1:p.?	NC_000017.10:g.73839908G>A	(Likely) pathogenic	2 labs	5e7064e45e
16:4774822 ANKS3 A>C	16	4774822	4774822	A	C	ANKS3	c.502T>G	NM_133450.4	NP_597707.1:p.(Cys168Gly)	NC_000016.9:g.4774822A>C	(Likely) benign	2 labs	5e7fb809f9
17:45000547 GOSR2 G>C	17	45000547	45000547	G	C	GOSR2	c.-12G>C	NM_004287.5	NP_004278.2:p.?	NC_000017.10:g.45000547G>C	(Likely) benign	2 labs	5e9340d2a7
9:37424858 GRHPR TG>T	9	37424858	37424861	TG	T	GRHPR	c.103del	NM_012203.2	NP_036335.1:p.(Asp35ThrfsTer11)	NC_000009.11:g.37424861del	(Likely) pathogenic	2 labs	5eaacba675
1:78408237 NEXN T>A	1	78408237	78408237	T	A	NEXN	c.1751T>A	NM_144573.3	NP_653174.3:p.(Phe584Tyr)	NC_000001.10:g.78408237T>A	VUS	2 labs	5ec67b79f2
8:11614510 GATA4 C>G	8	11614510	11614510	C	G	GATA4	c.1064C>G	NM_002052.5	NP_002043.2:p.(Thr355Ser)	NC_000008.10:g.11614510C>G	(Likely) benign	3 labs	5edc28cfdb
13:32913055 BRCA2 A>G	13	32913055	32913055	A	G	BRCA2	c.4563A>G	NM_000059.4	NP_000050.3:p.(Leu1521=)	NC_000013.10:g.32913055A>G	(Likely) benign	5 labs	d021968ffc
16:23391964 SCNN1B G>A	16	23391964	23391964	G	A	SCNN1B	c.1765G>A	NM_000336.3	NP_000327.2:p.(Gly589Ser)	NC_000016.9:g.23391964G>A	(Likely) benign	2 labs	5ef9f1303b
13:113772707 F7 G>A	13	113772707	113772707	G	A	F7	c.806-20G>A	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113772707G>A	(Likely) benign	2 labs	d0249ff39d
2:179437810 TTN T>A	2	179437810	179437810	T	A	TTN	c.73049A>T	NM_001267550.2	NP_001254479.2:p.(Asp24350Val)	NC_000002.11:g.179437810T>A	VUS	2 labs	5f2eab0d13
12:102158764 GNPTAB G>A	12	102158764	102158764	G	A	GNPTAB	c.1931C>T	NM_024312.5	NP_077288.2:p.(Thr644Ile)	NC_000012.11:g.102158764G>A	(Likely) benign	2 labs	5f534e46da
4:79443850 FRAS1 G>A	4	79443850	79443850	G	A	FRAS1	c.10696G>A	NM_025074.7	NP_079350.5:p.(Val3566Ile)	NC_000004.11:g.79443850G>A	(Likely) benign	2 labs	5f66248e05
2:48025816 MSH6 C>T	2	48025816	48025816	C	T	MSH6	c.694C>T	NM_000179.2	NP_000170.1:p.(Gln232Ter)	NC_000002.11:g.48025816C>T	(Likely) pathogenic	2 labs	5f72d7de8a
5:127671749 FBN2 T>C	5	127671749	127671749	T	C	FBN2	c.3655A>G	NM_001999.4	NP_001990.2:p.(Met1219Val)	NC_000005.9:g.127671749T>C	(Likely) benign	2 labs	5f842934cc
19:55665438 TNNI3 C>T	19	55665438	55665438	C	T	TNNI3	c.509G>A	NM_000363.4	NP_000354.4:p.(Arg170Gln)	NC_000019.9:g.55665438C>T	(Likely) pathogenic	2 labs	5f8b53b5b2
15:48539587 SLC12A1 T>C	15	48539587	48539587	T	C	SLC12A1	c.1614T>C	NM_000338.3	NP_000329.2:p.(Tyr538=)	NC_000015.9:g.48539587T>C	(Likely) benign	2 labs	5f94a772cc
1:112524287 KCND3 G>T	1	112524287	112524287	G	T	KCND3	c.1062C>A	NM_004980.5	NP_004971.2:p.(Ile354=)	NC_000001.10:g.112524287G>T	(Likely) benign	3 labs	5f8ed109b5
20:30408306 MYLK2 C>G	20	30408306	30408306	C	G	MYLK2	c.430C>G	NM_033118.3	NP_149109.1:p.(Pro144Ala)	NC_000020.10:g.30408306C>G	(Likely) benign	2 labs	5f9e413888
4:1803692 FGFR3 C>T	4	1803692	1803692	C	T	FGFR3	c.870C>T	NM_001163213.2	NP_001156685.1:p.(His290=)	NC_000004.11:g.1803692C>T	(Likely) benign	3 labs	5fefc9b24b
14:23901996 MYH7 C>T	14	23901996	23901996	C	T	MYH7	c.354G>A	NM_000257.4	NP_000248.2:p.(Ser118=)	NC_000014.8:g.23901996C>T	(Likely) benign	2 labs	5fe54b76ff
X:107807095 COL4A5 A>C	X	107807095	107807095	A	C	COL4A5	c.232-17A>C	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107807095A>C	(Likely) benign	2 labs	6024b8aa4b
3:38645430 SCN5A C>T	3	38645430	38645430	C	T	SCN5A	c.1663G>A	NM_001099404.2	NP_001092874.1:p.(Glu555Lys)	NC_000003.11:g.38645430C>T	VUS	3 labs	d033c48cbf
7:94041431 COL1A2 G>A	7	94041431	94041431	G	A	COL1A2	c.1402G>A	NM_000089.3	NP_000080.2:p.(Val468Ile)	NC_000007.13:g.94041431G>A	VUS	2 labs	60546f7621
19:55653297 TNNT1 A>C	19	55653297	55653297	A	C	TNNT1	c.129-9T>G	NM_003283.6	NP_003274.3:p.?	NC_000019.9:g.55653297A>C	(Likely) benign	2 labs	606a32dbb2
3:78735014 ROBO1 G>A	3	78735014	78735014	G	A	ROBO1	c.1116C>T	NM_133631.4	NP_598334.2:p.(Ser372=)	NC_000003.11:g.78735014G>A	(Likely) benign	3 labs	60845387ef
1:10363223 KIF1B C>T	1	10363223	10363223	C	T	KIF1B	c.1980C>T	NM_183416.4	NP_904325.2:p.(Asp660=)	NC_000001.10:g.10363223C>T	(Likely) benign	2 labs	60a07fad90
18:19429174 MIB1 G>A	18	19429174	19429174	G	A	MIB1	c.2411G>A	NM_020774.4	NP_065825.1:p.(Arg804Gln)	NC_000018.9:g.19429174G>A	(Likely) benign	4 labs	d037ee3ac7
15:77325279 PSTPIP1 C>T	15	77325279	77325279	C	T	PSTPIP1	c.915C>T	NM_003978.3	NP_003969.2:p.(Cys305=)	NC_000015.9:g.77325279C>T	(Likely) benign	2 labs	60e34a723c
19:38939100 RYR1 C>T	19	38939100	38939100	C	T	RYR1	c.906C>T	NM_000540.2	NP_000531.2:p.(Asp302=)	NC_000019.9:g.38939100C>T	(Likely) benign	2 labs	610dcf833b
9:21974756 CDKN2A C>G	9	21974756	21974756	C	G	CDKN2A	c.71G>C	NM_000077.5	NP_000068.1:p.(Arg24Pro)	NC_000009.11:g.21974756C>G	(Likely) pathogenic	2 labs	d044308849
14:101348572 RTL1 C>T	14	101348572	101348572	C	T	RTL1	c.2554G>A	NM_001134888.2	NP_001128360.1:p.(Ala852Thr)	NC_000014.8:g.101348572C>T	(Likely) benign	2 labs	6112d67255
19:6714271 C3 G>A	19	6714271	6714271	G	A	C3	c.600-12C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6714271G>A	(Likely) benign	2 labs	6132a9a162
1:223284214 TLR5 A>T	1	223284214	223284214	A	T	TLR5	c.2160T>A	NM_003268.6	NP_003259.2:p.(Ser720Arg)	NC_000001.10:g.223284214A>T	(Likely) benign	2 labs	613d514ca3
17:6594255 SLC13A5 G>A	17	6594255	6594255	G	A	SLC13A5	c.1280C>T	NM_177550.4	NP_808218.1:p.(Ser427Leu)	NC_000017.10:g.6594255G>A	(Likely) pathogenic	2 labs	614057726f
15:25601030 UBE3A A>G	15	25601030	25601030	A	G	UBE3A	c.2133+9T>C	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25601030A>G	(Likely) benign	2 labs	6147cea89e
X:585258 SHOX C>A	X	585258	585258	C	A	SHOX	c.-512C>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585258C>A	(Likely) benign	2 labs	61578c6857
1:112524722 KCND3 C>G	1	112524722	112524722	C	G	KCND3	c.627G>C	NM_004980.5	NP_004971.2:p.(Thr209=)	NC_000001.10:g.112524722C>G	(Likely) benign	2 labs	613cd3bcf8
16:89346825 ANKRD11 T>C	16	89346825	89346825	T	C	ANKRD11	c.6125A>G	NM_001256182.2	NP_001243111.1:p.(Asp2042Gly)	NC_000016.9:g.89346825T>C	(Likely) benign	2 labs	6166f9c15c
2:215634026 BARD1 G>A	2	215634026	215634026	G	A	BARD1	c.1325C>T	NM_000465.4	NP_000456.2:p.(Pro442Leu)	NC_000002.11:g.215634026G>A	VUS	2 labs	d05072a355
19:18174731 IL12RB1 C>T	19	18174731	18174731	C	T	IL12RB1	c.1573G>A	NM_005535.1	NP_005526.1:p.(Ala525Thr)	NC_000019.9:g.18174731C>T	(Likely) benign	2 labs	619bbfb600
X:10188755 CLCN4 C>T	X	10188755	10188755	C	T	CLCN4	c.2030C>T	NM_001830.4	NP_001821.2:p.(Thr677Met)	NC_000023.10:g.10188755C>T	(Likely) benign	2 labs	61b49e5150
10:112590845 RBM20 G>A	10	112590845	112590845	G	A	RBM20	c.3478G>A	NM_001134363.3	NP_001127835.2:p.(Gly1160Ser)	NC_000010.10:g.112590845G>A	VUS	3 labs	61e72bcedd
X:12904970 TLR7 C>T	X	12904970	12904970	C	T	TLR7	c.1343C>T	NM_016562.4	NP_057646.1:p.(Ala448Val)	NC_000023.10:g.12904970C>T	(Likely) benign	2 labs	61e17c0342
7:100319633 EPO G>A	7	100319633	100319633	G	A	EPO	c.208G>A	NM_000799.4	NP_000790.2:p.(Asp70Asn)	NC_000007.13:g.100319633G>A	(Likely) benign	2 labs	d0555668fc
2:179439003 TTN C>CCCAGTATA	2	179439003	179439011	C	CCCAGTATA	TTN	c.71848_71855dup	NM_001267550.2	NP_001254479.2:p.(Gly23953IlefsTer23)	NC_000002.11:g.179439004_179439011dup	(Likely) pathogenic	3 labs	6211d02013
3:38622437 SCN5A C>T	3	38622437	38622437	C	T	SCN5A	c.3213G>A	NM_001099404.2	NP_001092874.1:p.(Glu1071=)	NC_000003.11:g.38622437C>T	(Likely) benign	2 labs	621396361b
19:55665584 TNNI3 A>C	19	55665584	55665584	A	C	TNNI3	c.373-10T>G	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55665584A>C	(Likely) benign	4 labs	62243e5c68
9:130428484 STXBP1 C>T	9	130428484	130428484	C	T	STXBP1	c.703C>T	NM_003165.6	NP_003156.1:p.(Arg235Ter)	NC_000009.11:g.130428484C>T	(Likely) pathogenic	2 labs	62411aed76
4:88973218 PKD2 C>T	4	88973218	88973218	C	T	PKD2	c.1624C>T	NM_000297.4	NP_000288.1:p.(Gln542Ter)	NC_000004.11:g.88973218C>T	(Likely) pathogenic	2 labs	626b62e321
17:39925803 JUP T>C	17	39925803	39925803	T	C	JUP	c.335A>G	NM_002230.4	NP_002221.1:p.(Asn112Ser)	NC_000017.10:g.39925803T>C	(Likely) benign	2 labs	626cf98d0c
2:179442361 TTN C>T	2	179442361	179442361	C	T	TTN	c.68792G>A	NM_001267550.2	NP_001254479.2:p.(Ser22931Asn)	NC_000002.11:g.179442361C>T	(Likely) benign	2 labs	d05ef356c9
15:85403064 ALPK3 C>T	15	85403064	85403064	C	T	ALPK3	c.4023C>T	NM_020778.5	NP_065829.4:p.(Cys1341=)	NC_000015.9:g.85403064C>T	(Likely) benign	2 labs	62abcea499
1:196759347 CFHR3 A>T	1	196759347	196759347	A	T	CFHR3	c.786A>T	NM_021023.5	NP_066303.2:p.(Pro262=)	NC_000001.10:g.196759347A>T	(Likely) benign	2 labs	62b8846ed6
17:41246697 BRCA1 T>C	17	41246697	41246697	T	C	BRCA1	c.851A>G	NM_007294.4	NP_009225.1:p.(Gln284Arg)	NC_000017.10:g.41246697T>C	(Likely) benign	2 labs	62be128c3f
2:179531543 TTN A>C	2	179531543	179531543	A	C	TTN	c.35875+8T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179531543A>C	(Likely) benign	6 labs	d060bdc8f6
21:45709906 AIRE C>G	21	45709906	45709906	C	G	AIRE				NC_000021.8:g.45709906C>G	(Likely) benign	2 labs	62d5317c2c
2:143676263 KYNU A>AT	2	143676263	143676264	A	AT	KYNU	c.256dup	NM_003937.3	NP_003928.1:p.(Tyr86LeufsTer3)	NC_000002.11:g.143676264dup	(Likely) pathogenic	3 labs	62f2d1363d
1:158622275 SPTA1 C>G	1	158622275	158622275	C	G	SPTA1	c.3357G>C	NM_003126.4	NP_003117.2:p.(Lys1119Asn)	NC_000001.10:g.158622275C>G	VUS	3 labs	630b7f3047
11:34969112 PDHX A>G	11	34969112	34969112	A	G	PDHX	c.301A>G	NM_003477.3	NP_003468.2:p.(Thr101Ala)	NC_000011.9:g.34969112A>G	(Likely) benign	2 labs	d061c0e3b4
1:11264768 MTOR C>A	1	11264768	11264768	C	A	MTOR	c.3802-8G>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11264768C>A	(Likely) benign	2 labs	633e4a5142
12:110719585 ATP2A2 C>G	12	110719585	110719585	C	G	ATP2A2	c.-10C>G	NM_001681.4	NP_001672.1:p.?	NC_000012.11:g.110719585C>G	(Likely) benign	2 labs	6346d42b4a
10:43614996 RET G>A	10	43614996	43614996	G	A	RET	c.2410G>A	NM_020975.6	NP_066124.1:p.(Val804Met)	NC_000010.10:g.43614996G>A	(Likely) pathogenic	3 labs	634a0502f5
12:31236749 DDX11 G>A	12	31236749	31236749	G	A	DDX11	c.147G>A	NM_030653.4	NP_085911.2:p.(Gly49=)	NC_000012.11:g.31236749G>A	(Likely) benign	2 labs	636d27bc7f
X:153296090 MECP2 C>T	X	153296090	153296090	C	T	MECP2	c.1189G>A	NM_004992.4	NP_004983.1:p.(Glu397Lys)	NC_000023.10:g.153296090C>T	(Likely) benign	4 labs	639039d4a9
14:21778717 RPGRIP1 AAAT>A	14	21778717	21778729	AAAT	A	RPGRIP1	c.907-16_907-14del	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21778727_21778729del	(Likely) benign	2 labs	6396a8e6e3
12:103246700 PAH C>T	12	103246700	103246700	C	T	PAH	c.735G>A	NM_000277.3	NP_000268.1:p.(Val245=)	NC_000012.11:g.103246700C>T	(Likely) benign	3 labs	63a99a5dbc
12:863177 WNK1 C>T	12	863177	863177	C	T	WNK1	c.446C>T	NM_001184985.2	NP_001171914.1:p.(Ala149Val)	NC_000012.11:g.863177C>T	(Likely) benign	2 labs	63adec808c
22:51064068 ARSA G>A	22	51064068	51064068	G	A	ARSA	c.1149C>T	NM_000487.6	NP_000478.3:p.(Asp383=)	NC_000022.10:g.51064068G>A	(Likely) benign	4 labs	63b14729cf
6:7568815 DSP A>G	6	7568815	7568815	A	G	DSP	c.1412A>G	NM_004415.4	NP_004406.2:p.(Gln471Arg)	NC_000006.11:g.7568815A>G	VUS	2 labs	63bd3c7b4f
2:227942637 COL4A4 C>G	2	227942637	227942637	C	G	COL4A4	c.1960G>C	NM_000092.4	NP_000083.3:p.(Gly654Arg)	NC_000002.11:g.227942637C>G	(Likely) pathogenic	2 labs	63d4a9414b
16:86602433 FOXC2 T>C	16	86602433	86602433	T	C	FOXC2	c.1492T>C	NM_005251.3	NP_005242.1:p.(Cys498Arg)	NC_000016.9:g.86602433T>C	(Likely) benign	3 labs	63fc280ad0
6:42975003 PPP2R5D G>A	6	42975003	42975003	G	A	PPP2R5D	c.592G>A	NM_006245.4	NP_006236.1:p.(Glu198Lys)	NC_000006.11:g.42975003G>A	(Likely) pathogenic	3 labs	63f6d238b1
7:116339282 MET G>A	7	116339282	116339282	G	A	MET	c.144G>A	NM_001127500.1	NP_001120972.1:p.(Ala48=)	NC_000007.13:g.116339282G>A	(Likely) benign	2 labs	642f1e2305
17:41209068 BRCA1 C>T	17	41209068	41209068	C	T	BRCA1	c.5277+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41209068C>T	(Likely) pathogenic	7 labs	d064a3e780
11:19209802 CSRP3 C>T	11	19209802	19209802	C	T	CSRP3	c.162G>A	NM_003476.5	NP_003467.1:p.(Ser54=)	NC_000011.9:g.19209802C>T	(Likely) benign	2 labs	643d95ebac
5:38917669 OSMR T>A	5	38917669	38917669	T	A	OSMR	c.1307T>A	NM_003999.3	NP_003990.1:p.(Val436Asp)	NC_000005.9:g.38917669T>A	(Likely) benign	2 labs	6456a28120
22:26193916 MYO18B G>A	22	26193916	26193916	G	A	MYO18B	c.2377-4G>A	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26193916G>A	(Likely) benign	2 labs	645a7d0dfe
1:66081863 LEPR C>T	1	66081863	66081863	C	T	LEPR	c.2168C>T	NM_002303.5	NP_002294.2:p.(Ser723Phe)	NC_000001.10:g.66081863C>T	(Likely) pathogenic	2 labs	645ebdb4b4
7:128488762 FLNC C>T	7	128488762	128488762	C	T	FLNC	c.4728C>T	NM_001458.4	NP_001449.3:p.(Val1576=)	NC_000007.13:g.128488762C>T	(Likely) benign	2 labs	646e0ea2b4
12:89814934 POC1B C>A	12	89814934	89814934	C	A	POC1B	c.1433G>T	NM_172240.3	NP_758440.1:p.(Ser478Ile)	NC_000012.11:g.89814934C>A	(Likely) benign	2 labs	647222c9d1
16:23203690 SCNN1G C>T	16	23203690	23203690	C	T	SCNN1G	c.636C>T	NM_001039.4	NP_001030.2:p.(Ser212=)	NC_000016.9:g.23203690C>T	(Likely) benign	2 labs	6479abec08
17:41226675 BRCA1 A>T	17	41226675	41226675	A	T	BRCA1	c.4485-137T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226675A>T	(Likely) benign	2 labs	647d3604b7
17:4836105 GP1BA C>T	17	4836105	4836105	C	T	GP1BA	c.206C>T	NM_000173.7	NP_000164.5:p.(Pro69Leu)	NC_000017.10:g.4836105C>T	(Likely) benign	3 labs	648100bcd6
15:67457698 SMAD3 A>G	15	67457698	67457698	A	G	SMAD3	c.508A>G	NM_005902.4	NP_005893.1:p.(Ile170Val)	NC_000015.9:g.67457698A>G	(Likely) benign	4 labs	648da1de34
18:50848468 DCC A>G	18	50848468	50848468	A	G	DCC	c.2105A>G	NM_005215.4	NP_005206.2:p.(Asn702Ser)	NC_000018.9:g.50848468A>G	(Likely) benign	2 labs	64a258c7d7
9:137705902 COL5A1 G>A	9	137705902	137705902	G	A	COL5A1	c.3906+20G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137705902G>A	(Likely) benign	2 labs	64c3d0e081
4:123664150 BBS12 G>A	4	123664150	123664150	G	A	BBS12	c.1103G>A	NM_152618.3	NP_689831.2:p.(Arg368His)	NC_000004.11:g.123664150G>A	(Likely) benign	2 labs	64e3941b17
12:88476860 CEP290 G>A	12	88476860	88476860	G	A	CEP290	c.4960C>T	NM_025114.4	NP_079390.3:p.(Gln1654Ter)	NC_000012.11:g.88476860G>A	(Likely) pathogenic	2 labs	64e43f41e6
7:117230411 CFTR G>A	7	117230411	117230411	G	A	CFTR	c.1684G>A	NM_000492.3	NP_000483.3:p.(Val562Ile)	NC_000007.13:g.117230411G>A	(Likely) benign	2 labs	6505a6e339
9:139396893 NOTCH1 C>T	9	139396893	139396893	C	T	NOTCH1	c.5215G>A	NM_017617.5	NP_060087.3:p.(Val1739Met)	NC_000009.11:g.139396893C>T	VUS	2 labs	65089885cb
6:32006858 CYP21A2 C>A	6	32006858	32006858	C	A	CYP21A2	c.293-13C>A	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32006858C>A	(Likely) benign	3 labs	6521b0391f
18:19085529 GREB1L G>C	18	19085529	19085529	G	C	GREB1L	c.4228+1G>C	NM_001142966.3	NP_001136438.1:p.?	NC_000018.9:g.19085529G>C	(Likely) pathogenic	2 labs	6528e8e1f7
5:130498364 HINT1 A>G	5	130498364	130498364	A	G	HINT1	c.117T>C	NM_005340.7	NP_005331.1:p.(Leu39=)	NC_000005.9:g.130498364A>G	(Likely) benign	2 labs	652bb2feb0
11:94168988 MRE11 C>T	11	94168988	94168988	C	T	MRE11	c.1994+10G>A	NM_005591.4	NP_005582.1:p.?	NC_000011.9:g.94168988C>T	(Likely) benign	2 labs	653837f9a5
17:78086846 GAA A>G	17	78086846	78086846	A	G	GAA	c.2040+20A>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78086846A>G	(Likely) benign	3 labs	655244bc42
3:191888452 FGF12 G>A	3	191888452	191888452	G	A	FGF12	c.415-7C>T	NM_021032.4	NP_066360.1:p.?	NC_000003.11:g.191888452G>A	(Likely) benign	2 labs	658b6f7bad
X:99840291 TNMD A>G	X	99840291	99840291	A	G	TNMD	c.112A>G	NM_022144.3	NP_071427.2:p.(Ile38Val)	NC_000023.10:g.99840291A>G	(Likely) benign	2 labs	6590eee8cd
11:19206571 CSRP3 G>A	11	19206571	19206571	G	A	CSRP3	c.436C>T	NM_003476.5	NP_003467.1:p.(Arg146Cys)	NC_000011.9:g.19206571G>A	VUS	3 labs	659e5410b6
2:215645404 BARD1 T>C	2	215645404	215645404	T	C	BARD1	c.1194A>G	NM_000465.4	NP_000456.2:p.(Thr398=)	NC_000002.11:g.215645404T>C	(Likely) benign	2 labs	65aa1affbb
15:91557674 VPS33B GAA>G	15	91557674	91557677	GAA	G	VPS33B	c.240-13_240-12del	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91557676_91557677del	(Likely) benign	3 labs	65bb9c5ebd
6:51824680 PKHD1 G>A	6	51824680	51824680	G	A	PKHD1	c.5896C>T	NM_138694.4	NP_619639.3:p.(Leu1966=)	NC_000006.11:g.51824680G>A	(Likely) benign	3 labs	65e1ab9cad
4:5800494 EVC G>A	4	5800494	5800494	G	A	EVC	c.2279G>A	NM_153717.3	NP_714928.1:p.(Arg760Gln)	NC_000004.11:g.5800494G>A	(Likely) benign	2 labs	65ffd15b2f
13:32890704 BRCA2 G>A	13	32890704	32890704	G	A	BRCA2	c.67+40G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890704G>A	(Likely) benign	3 labs	660adddfd3
4:79205589 FRAS1 C>A	4	79205589	79205589	C	A	FRAS1	c.1286C>A	NM_025074.7	NP_079350.5:p.(Ser429Tyr)	NC_000004.11:g.79205589C>A	(Likely) benign	2 labs	6634b41efe
3:38591925 SCN5A C>A	3	38591925	38591925	C	A	SCN5A	c.5938G>T	NM_198056.3	NP_932173.1:p.(Val1980Phe)	NC_000003.11:g.38591925C>A	VUS	2 labs	6639af9ae9
X:19443725 MAP3K15 C>T	X	19443725	19443725	C	T	MAP3K15	c.1363G>A	NM_001001671.3	NP_001001671.3:p.(Val455Ile)	NC_000023.10:g.19443725C>T	(Likely) benign	2 labs	6647734075
4:84205729 COQ2 C>A	4	84205729	84205729	C	A	COQ2	c.339G>T	NM_015697.9	NP_056512.5:p.(Val113=)	NC_000004.11:g.84205729C>A	(Likely) benign	2 labs	6653c04781
6:33653506 ITPR3 C>T	6	33653506	33653506	C	T	ITPR3	c.5569C>T	NM_002224.3	NP_002215.2:p.(Arg1857Cys)	NC_000006.11:g.33653506C>T	(Likely) benign	2 labs	6666eb4613
9:131095210 COQ4 G>A	9	131095210	131095210	G	A	COQ4	c.614G>A	NM_016035.4	NP_057119.2:p.(Arg205Gln)	NC_000009.11:g.131095210G>A	(Likely) benign	2 labs	66698451ed
7:81695842 CACNA2D1 TAA>T	7	81695842	81695858	TAA	T	CACNA2D1	c.659-4_659-3del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695857_81695858del	(Likely) benign	2 labs	667322d99c
15:73614834 HCN4 T>C	15	73614834	73614834	T	C	HCN4	c.3600A>G	NM_005477.3	NP_005468.1:p.(Pro1200=)	NC_000015.9:g.73614834T>C	(Likely) benign	4 labs	668ff33d0f
2:179398210 TTN G>A	2	179398210	179398210	G	A	TTN	c.103132C>T	NM_001267550.2	NP_001254479.2:p.(Gln34378Ter)	NC_000002.11:g.179398210G>A	(Likely) pathogenic	2 labs	66a3e1e9e0
9:286593 DOCK8 C>A	9	286593	286593	C	A	DOCK8	c.289C>A	NM_203447.4	NP_982272.2:p.(Pro97Thr)	NC_000009.11:g.286593C>A	(Likely) benign	2 labs	66a486808f
14:57099859 TMEM260 G>A	14	57099859	57099859	G	A	TMEM260	c.1694G>A	NM_017799.4	NP_060269.3:p.(Ser565Asn)	NC_000014.8:g.57099859G>A	(Likely) benign	2 labs	66b60d4dce
2:217288388 SMARCAL1 G>C	2	217288388	217288388	G	C	SMARCAL1	c.1129G>C	NM_014140.3	NP_054859.2:p.(Glu377Gln)	NC_000002.11:g.217288388G>C	(Likely) benign	3 labs	66cb225736
1:185267193 IVNS1ABP G>T	1	185267193	185267193	G	T	IVNS1ABP	c.1903C>A	NM_006469.5	NP_006460.2:p.(Pro635Thr)	NC_000001.10:g.185267193G>T	(Likely) benign	2 labs	66d86ea112
5:90021035 ADGRV1 T>C	5	90021035	90021035	T	C	ADGRV1	c.10039T>C	NM_032119.4	NP_115495.3:p.(Phe3347Leu)	NC_000005.9:g.90021035T>C	(Likely) benign	2 labs	66eb321724
8:10467124 RP1L1 G>C	8	10467124	10467124	G	C	RP1L1	c.4484C>G	NM_178857.6	NP_849188.4:p.(Pro1495Arg)	NC_000008.10:g.10467124G>C	(Likely) benign	2 labs	d09d2b190a
22:18907124 PRODH G>A	22	18907124	18907124	G	A	PRODH	c.1105-14C>T	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18907124G>A	(Likely) benign	2 labs	d0a3a78d63
5:90445829 ADGRV1 T>TTC	5	90445829	90445831	T	TTC	ADGRV1	c.18433-17_18433-16insCT	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445830_90445831insCT	(Likely) benign	2 labs	d0a3b976e2
1:216390763 USH2A G>T	1	216390763	216390763	G	T	USH2A	c.3123C>A	NM_206933.4	NP_996816.3:p.(His1041Gln)	NC_000001.10:g.216390763G>T	(Likely) benign	4 labs	d0a847cb12
11:108098524 ATM C>T	11	108098524	108098524	C	T	ATM	c.94C>T	NM_000051.4	NP_000042.3:p.(Arg32Cys)	NC_000011.9:g.108098524C>T	VUS	2 labs	d0ac347a7c
13:32913563 BRCA2 A>T	13	32913563	32913563	A	T	BRCA2	c.5071A>T	NM_000059.4	NP_000050.3:p.(Lys1691Ter)	NC_000013.10:g.32913563A>T	(Likely) pathogenic	3 labs	d0adc30c4d
12:103310844 PAH C>A	12	103310844	103310844	C	A	PAH	c.60+5G>T	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103310844C>A	(Likely) pathogenic	2 labs	671e8c8503
7:128496692 FLNC G>A	7	128496692	128496692	G	A	FLNC	c.7372G>A	NM_001458.4	NP_001449.3:p.(Glu2458Lys)	NC_000007.13:g.128496692G>A	VUS	2 labs	672496b3ea
18:43496539 EPG5 G>A	18	43496539	43496539	G	A	EPG5	c.3248C>T	NM_020964.3	NP_066015.2:p.(Ser1083Leu)	NC_000018.9:g.43496539G>A	(Likely) benign	3 labs	672a2c1d9d
20:60921795 LAMA5 G>A	20	60921795	60921795	G	A	LAMA5	c.1134C>T	NM_005560.4	NP_005551.3:p.(Arg378=)	NC_000020.10:g.60921795G>A	(Likely) benign	2 labs	672bd8f54d
1:11190679 MTOR G>GGTGGTGGCAGTGGCGGCC	1	11190679	11190705	G	GGTGGTGGCAGTGGCGGCC	MTOR	c.5502_5519dup	NM_004958.4	NP_004949.1:p.(Ala1835_Thr1840dup)	NC_000001.10:g.11190688_11190705dup	(Likely) benign	3 labs	6734de05c3
8:145004383 PLEC G>A	8	145004383	145004383	G	A	PLEC	c.2952C>T	NM_201380.4	NP_958782.1:p.(Ser984=)	NC_000008.10:g.145004383G>A	(Likely) benign	2 labs	674ff8dd81
20:60888201 LAMA5 G>A	20	60888201	60888201	G	A	LAMA5	c.8898C>T	NM_005560.4	NP_005551.3:p.(Phe2966=)	NC_000020.10:g.60888201G>A	(Likely) benign	2 labs	676f65ea31
2:166732674 TTC21B C>T	2	166732674	166732674	C	T	TTC21B	c.3873+1G>A	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166732674C>T	(Likely) pathogenic	2 labs	6775ed35f4
2:136872498 CXCR4 G>A	2	136872498	136872498	G	A	CXCR4	c.955C>T	NM_001348060.2	NP_001334989.1:p.(Arg319Ter)	NC_000002.11:g.136872498G>A	(Likely) pathogenic	2 labs	6781d23241
3:12458335 PPARG G>A	3	12458335	12458335	G	A	PPARG	c.952G>A	NM_015869.5	NP_056953.2:p.(Val318Met)	NC_000003.11:g.12458335G>A	(Likely) pathogenic	2 labs	67aa04abb0
8:100871572 VPS13B A>C	8	100871572	100871572	A	C	VPS13B	c.10983A>C	NM_017890.5	NP_060360.3:p.(Ala3661=)	NC_000008.10:g.100871572A>C	(Likely) benign	2 labs	678b174a30
7:91652341 AKAP9 G>C	7	91652341	91652341	G	C	AKAP9	c.4148+18G>C	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91652341G>C	(Likely) benign	2 labs	678e088de9
11:64031241 PLCB3 C>T	11	64031241	64031241	C	T	PLCB3	c.2534C>T	NM_000932.3	NP_000923.1:p.(Ser845Leu)	NC_000011.9:g.64031241C>T	(Likely) benign	2 labs	67b8758ce5
2:179462431 TTN C>T	2	179462431	179462431	C	T	TTN	c.57378G>A	NM_001267550.2	NP_001254479.2:p.(Trp19126Ter)	NC_000002.11:g.179462431C>T	(Likely) pathogenic	3 labs	67dcce81b1
6:51918850 PKHD1 C>T	6	51918850	51918850	C	T	PKHD1	c.1950G>A	NM_138694.4	NP_619639.3:p.(Arg650=)	NC_000006.11:g.51918850C>T	(Likely) benign	2 labs	67e415afb1
14:64608748 SYNE2 A>G	14	64608748	64608748	A	G	SYNE2	c.15248A>G	NM_182914.2	NP_878918.2:p.(Asp5083Gly)	NC_000014.8:g.64608748A>G	(Likely) benign	2 labs	67fa4a281e
19:35524957 SCN1B C>A	19	35524957	35524957	C	A	SCN1B	c.762C>A	NM_199037.5	NP_950238.1:p.(Gly254=)	NC_000019.9:g.35524957C>A	(Likely) benign	2 labs	681059417e
4:110723140 CFI C>T	4	110723140	110723140	C	T	CFI	c.-13G>A	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110723140C>T	(Likely) benign	2 labs	681daf3095
12:133249383 POLE T>C	12	133249383	133249383	T	C	POLE	c.1516A>G	NM_006231.4	NP_006222.2:p.(Met506Val)	NC_000012.11:g.133249383T>C	VUS	2 labs	6866893f54
17:75398664 SEPTIN9 C>T	17	75398664	75398664	C	T	SEPTIN9	c.546C>T	NM_006640.5	NP_006631.2:p.(Thr182=)	NC_000017.10:g.75398664C>T	(Likely) benign	2 labs	685f06c402
18:55322502 ATP8B1 C>T	18	55322502	55322502	C	T	ATP8B1	c.2855G>A	NM_005603.6	NP_005594.2:p.(Arg952Gln)	NC_000018.9:g.55322502C>T	(Likely) benign	3 labs	6886d3a4d2
10:100186986 HPS1 T>TG	10	100186986	100186994	T	TG	HPS1	c.972dup	NM_000195.5	NP_000186.2:p.(Met325HisfsTer128)	NC_000010.10:g.100186994dup	(Likely) pathogenic	3 labs	68899d094a
16:2149990 PKD1 G>A	16	2149990	2149990	G	A	PKD1	c.9795C>T	NM_001009944.2	NP_001009944.2:p.(Ser3265=)	NC_000016.9:g.2149990G>A	(Likely) benign	3 labs	68af1b805b
10:50863147 CHAT T>C	10	50863147	50863147	T	C	CHAT	c.1395T>C	NM_001142933.2	NP_001136405.2:p.(His465=)	NC_000010.10:g.50863147T>C	(Likely) benign	2 labs	d0c9f30c09
2:179455130 TTN T>C	2	179455130	179455130	T	C	TTN	c.61322A>G	NM_001267550.2	NP_001254479.2:p.(Asn20441Ser)	NC_000002.11:g.179455130T>C	(Likely) benign	2 labs	68de2c2940
1:43201614 CLDN19 C>T	1	43201614	43201614	C	T	CLDN19	c.561G>A	NM_148960.3	NP_683763.2:p.(Pro187=)	NC_000001.10:g.43201614C>T	(Likely) benign	2 labs	68eda31131
9:14819370 FREM1 G>T	9	14819370	14819370	G	T	FREM1	c.2408C>A	NM_144966.7	NP_659403.4:p.(Ser803Tyr)	NC_000009.11:g.14819370G>T	(Likely) benign	2 labs	691a1ccd9b
19:860852 CFD G>C	19	860852	860852	G	C	CFD	c.213-9G>C	NM_001928.4	NP_001919.2:p.?	NC_000019.9:g.860852G>C	(Likely) benign	2 labs	d0d069ed68
1:201047079 CACNA1S G>A	1	201047079	201047079	G	A	CACNA1S	c.1547C>T	NM_000069.3	NP_000060.2:p.(Ser516Leu)	NC_000001.10:g.201047079G>A	(Likely) benign	2 labs	690f493f5b
3:38645420 SCN5A T>C	3	38645420	38645420	T	C	SCN5A	c.1673A>G	NM_001099404.2	NP_001092874.1:p.(His558Arg)	NC_000003.11:g.38645420T>C	(Likely) benign	5 labs	69279f8957
12:88471040 CEP290 C>A	12	88471040	88471040	C	A	CEP290	c.5668G>T	NM_025114.4	NP_079390.3:p.(Gly1890Ter)	NC_000012.11:g.88471040C>A	(Likely) pathogenic	4 labs	6938fab5cb
1:200633073 DDX59 G>T	1	200633073	200633073	G	T	DDX59	c.946C>A	NM_001031725.5	NP_001026895.2:p.(Leu316Ile)	NC_000001.10:g.200633073G>T	(Likely) benign	2 labs	697ede8df0
4:79188584 FRAS1 C>T	4	79188584	79188584	C	T	FRAS1	c.979C>T	NM_025074.7	NP_079350.5:p.(Arg327Trp)	NC_000004.11:g.79188584C>T	(Likely) benign	2 labs	6985aa614c
11:67808746 TCIRG1 C>T	11	67808746	67808746	C	T	TCIRG1	c.8C>T	NM_006019.4	NP_006010.2:p.(Ser3Phe)	NC_000011.9:g.67808746C>T	VUS	2 labs	d0d343c549
14:23894556 MYH7 C>A	14	23894556	23894556	C	A	MYH7	c.2358G>T	NM_000257.4	NP_000248.2:p.(Thr786=)	NC_000014.8:g.23894556C>A	(Likely) benign	3 labs	d0d663c283
14:23895189 MYH7 C>T	14	23895189	23895189	C	T	MYH7	c.2146G>A	NM_000257.4	NP_000248.2:p.(Gly716Arg)	NC_000014.8:g.23895189C>T	(Likely) pathogenic	3 labs	d0d78ece1d
19:36340132 NPHS1 C>T	19	36340132	36340132	C	T	NPHS1	c.840+6G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36340132C>T	(Likely) benign	2 labs	69fd0cb8b6
11:65310706 LTBP3 T>A	11	65310706	65310706	T	A	LTBP3	c.2477-11A>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65310706T>A	(Likely) benign	2 labs	69be1d79da
20:10622556 JAG1 G>A	20	10622556	10622556	G	A	JAG1	c.2573-16C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622556G>A	(Likely) benign	2 labs	69c3177861
1:196757547 CFHR3 C>T	1	196757547	196757547	C	T	CFHR3	c.613+19C>T	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196757547C>T	(Likely) benign	2 labs	69f1937ef9
5:112103050 APC G>C	5	112103050	112103050	G	C	APC				NC_000005.9:g.112103050G>C	(Likely) benign	3 labs	69f68ba507
12:111351061 MYL2 C>T	12	111351061	111351061	C	T	MYL2	c.342G>A	NM_000432.3	NP_000423.2:p.(Leu114=)	NC_000012.11:g.111351061C>T	(Likely) benign	2 labs	69fb66a77e
9:135204597 SETX CT>C	9	135204597	135204600	CT	C	SETX	c.2387del	NM_015046.7	NP_055861.3:p.(Lys796ArgfsTer16)	NC_000009.11:g.135204600del	(Likely) pathogenic	2 labs	69f69c4d33
2:166930064 SCN1A G>A	2	166930064	166930064	G	A	SCN1A	c.68C>T	NM_001165963.4	NP_001159435.1:p.(Ala23Val)	NC_000002.11:g.166930064G>A	(Likely) benign	2 labs	6a04038d12
12:21995375 ABCC9 G>A	12	21995375	21995375	G	A	ABCC9	c.3346C>T	NM_020297.2	NP_064693.2:p.(Arg1116Cys)	NC_000012.11:g.21995375G>A	(Likely) pathogenic	2 labs	6a0cc0fdb3
12:110032872 MVK G>A	12	110032872	110032872	G	A	MVK	c.925G>A	NM_000431.2	NP_000422.1:p.(Gly309Ser)	NC_000012.11:g.110032872G>A	(Likely) pathogenic	2 labs	6a1acfcfca
13:39265877 FREM2 C>T	13	39265877	39265877	C	T	FREM2	c.4396C>T	NM_207361.6	NP_997244.4:p.(Arg1466Ter)	NC_000013.10:g.39265877C>T	(Likely) pathogenic	2 labs	6a2543325c
6:7562982 DSP G>A	6	7562982	7562982	G	A	DSP	c.695G>A	NM_004415.4	NP_004406.2:p.(Arg232His)	NC_000006.11:g.7562982G>A	VUS	3 labs	6a0975b4c8
12:112915456 PTPN11 T>G	12	112915456	112915456	T	G	PTPN11	c.855T>G	NM_002834.3	NP_002825.3:p.(Phe285Leu)	NC_000012.11:g.112915456T>G	(Likely) pathogenic	2 labs	6a331b0775
14:21861341 CHD8 G>A	14	21861341	21861341	G	A	CHD8	c.6392C>T	NM_001170629.2	NP_001164100.1:p.(Pro2131Leu)	NC_000014.8:g.21861341G>A	VUS	2 labs	d0e972a84b
6:123696746 TRDN A>G	6	123696746	123696746	A	G	TRDN	c.1273+4T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123696746A>G	VUS	2 labs	6a4b9a92d1
11:2466656 KCNQ1 G>A	11	2466656	2466656	G	A	KCNQ1	c.328G>A	NM_000218.2	NP_000209.2:p.(Val110Ile)	NC_000011.9:g.2466656G>A	VUS	2 labs	6a791db4e3
2:98354447 ZAP70 G>A	2	98354447	98354447	G	A	ZAP70	c.1624-11G>A	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98354447G>A	(Likely) pathogenic	2 labs	6a9ed141bd
15:72023502 THSD4 G>A	15	72023502	72023502	G	A	THSD4	c.1576G>A	NM_024817.2	NP_079093.2:p.(Val526Met)	NC_000015.9:g.72023502G>A	(Likely) benign	2 labs	6a90a7e6e6
16:20360101 UMOD G>A	16	20360101	20360101	G	A	UMOD	c.621C>T	NM_001278614.2	NP_001265543.1:p.(Cys207=)	NC_000016.9:g.20360101G>A	(Likely) benign	3 labs	6ac66c4751
2:179460435 TTN T>C	2	179460435	179460435	T	C	TTN	c.30826A>G	NM_133432.3	NP_597676.3:p.(Ile10276Val)	NC_000002.11:g.179460435T>C	(Likely) benign	2 labs	6ab9a9dc36
1:196706642 CFH C>T	1	196706642	196706642	C	T	CFH	c.2634C>T	NM_000186.3	NP_000177.2:p.(His878=)	NC_000001.10:g.196706642C>T	(Likely) benign	2 labs	6ac111d433
13:110853766 COL4A1 A>G	13	110853766	110853766	A	G	COL4A1	c.1084+19T>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110853766A>G	(Likely) benign	2 labs	6ad400ab24
5:112178781 APC C>T	5	112178781	112178781	C	T	APC	c.7490C>T	NM_000038.6	NP_000029.2:p.(Ser2497Leu)	NC_000005.9:g.112178781C>T	(Likely) benign	3 labs	6ad7d81eca
1:184677464 EDEM3 G>A	1	184677464	184677464	G	A	EDEM3	c.1860C>T	NM_001319960.2	NP_001306889.1:p.(Ile620=)	NC_000001.10:g.184677464G>A	(Likely) benign	2 labs	6aef5e199d
16:28898793 ATP2A1 T>C	16	28898793	28898793	T	C	ATP2A1	c.678T>C	NM_004320.6	NP_004311.1:p.(Thr226=)	NC_000016.9:g.28898793T>C	(Likely) benign	4 labs	6b28827f3f
X:154221271 F8 C>T	X	154221271	154221271	C	T	F8	c.541G>A	NM_000132.3	NP_000123.1:p.(Val181Met)	NC_000023.10:g.154221271C>T	(Likely) pathogenic	2 labs	6b2e04f67d
1:196712624 CFH T>C	1	196712624	196712624	T	C	CFH	c.3176T>C	NM_000186.3	NP_000177.2:p.(Ile1059Thr)	NC_000001.10:g.196712624T>C	(Likely) benign	2 labs	6b3d098c88
17:46805768 HOXB13 C>T	17	46805768	46805768	C	T	HOXB13	c.188G>A	NM_006361.6	NP_006352.2:p.(Cys63Tyr)	NC_000017.10:g.46805768C>T	VUS	2 labs	d0f6b5998a
10:76788659 KAT6B G>GGAAGAGGAA	10	76788659	76788687	G	GGAAGAGGAA	KAT6B	c.4097_4105dup	NM_012330.4	NP_036462.2:p.(Glu1366_Glu1368dup)	NC_000010.10:g.76788679_76788687dup	(Likely) benign	2 labs	6b669958ba
4:178359925 AGA G>A	4	178359925	178359925	G	A	AGA	c.481C>T	NM_000027.4	NP_000018.2:p.(Arg161Trp)	NC_000004.11:g.178359925G>A	(Likely) benign	2 labs	6b7d5d0673
15:36937461 CDIN1 C>T	15	36937461	36937461	C	T	CDIN1	c.185C>T	NM_001130010.3	NP_001123482.1:p.(Ser62Leu)	NC_000015.9:g.36937461C>T	(Likely) benign	2 labs	6bcef7b205
11:123513260 SCN3B G>A	11	123513260	123513260	G	A	SCN3B	c.339C>T	NM_018400.3	NP_060870.1:p.(Asn113=)	NC_000011.9:g.123513260G>A	(Likely) benign	2 labs	6bf72de5bc
14:95566103 DICER1 AC>A	14	95566103	95566104	AC	A	DICER1	c.4206+13del	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95566104del	(Likely) benign	2 labs	6c133fe3f0
2:179434862 TTN C>T	2	179434862	179434862	C	T	TTN	c.75997G>A	NM_001267550.2	NP_001254479.2:p.(Gly25333Ser)	NC_000002.11:g.179434862C>T	VUS	4 labs	6c43a02076
2:179417329 TTN C>G	2	179417329	179417329	C	G	TTN	c.63478G>C	NM_133432.3	NP_597676.3:p.(Glu21160Gln)	NC_000002.11:g.179417329C>G	(Likely) benign	2 labs	6c56d4076a
8:22864492 RHOBTB2 T>C	8	22864492	22864492	T	C	RHOBTB2	c.800T>C	NM_001160036.2	NP_001153508.1:p.(Val267Ala)	NC_000008.10:g.22864492T>C	(Likely) benign	2 labs	6c7ca5f345
16:3297181 MEFV C>T	16	3297181	3297181	C	T	MEFV	c.1422G>A	NM_000243.3	NP_000234.1:p.(Glu474=)	NC_000016.9:g.3297181C>T	(Likely) benign	2 labs	6ca7e008b7
4:5795412 EVC C>T	4	5795412	5795412	C	T	EVC	c.1854C>T	NM_153717.3	NP_714928.1:p.(Gly618=)	NC_000004.11:g.5795412C>T	(Likely) benign	2 labs	d1081165d0
6:110053824 FIG4 GT>G	6	110053824	110053837	GT	G	FIG4	c.447-3del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110053837del	(Likely) benign	2 labs	6cae53f7af
20:60912684 LAMA5 G>A	20	60912684	60912684	G	A	LAMA5	c.2126C>T	NM_005560.4	NP_005551.3:p.(Thr709Ile)	NC_000020.10:g.60912684G>A	(Likely) benign	2 labs	6ce6240e67
7:128495302 FLNC C>T	7	128495302	128495302	C	T	FLNC	c.7185C>T	NM_001458.4	NP_001449.3:p.(Ser2395=)	NC_000007.13:g.128495302C>T	(Likely) benign	3 labs	6cece16f2a
2:73786188 ALMS1 A>G	2	73786188	73786188	A	G	ALMS1	c.10306A>G	NM_015120.4	NP_055935.4:p.(Lys3436Glu)	NC_000002.11:g.73786188A>G	(Likely) benign	3 labs	6cfb06b75a
16:3297073 MEFV A>G	16	3297073	3297073	A	G	MEFV	c.1530T>C	NM_000243.3	NP_000234.1:p.(Asp510=)	NC_000016.9:g.3297073A>G	(Likely) benign	2 labs	6d19024bef
2:216271971 FN1 G>A	2	216271971	216271971	G	A	FN1	c.2592C>T	NM_212482.2	NP_997647.1:p.(Ser864=)	NC_000002.11:g.216271971G>A	(Likely) benign	2 labs	6d2ad539ff
4:5713115 EVC G>C	4	5713115	5713115	G	C	EVC	c.8G>C	NM_153717.3	NP_714928.1:p.(Arg3Pro)	NC_000004.11:g.5713115G>C	(Likely) benign	2 labs	6d57b4553e
8:145738410 RECQL4 T>TGGTGCA	8	145738410	145738430	T	TGGTGCA	RECQL4	c.2569_2574dup	NM_004260.4	NP_004251.4:p.(Cys857_Thr858dup)	NC_000008.10:g.145738425_145738430dup	(Likely) benign	3 labs	6d620c18c1
22:36681744 MYH9 G>A	22	36681744	36681744	G	A	MYH9	c.5234C>T	NM_002473.5	NP_002464.1:p.(Thr1745Met)	NC_000022.10:g.36681744G>A	(Likely) benign	2 labs	6d784aa64b
17:8006708 ALOXE3 G>A	17	8006708	8006708	G	A	ALOXE3	c.2285C>T	NM_001165960.1	NP_001159432.1:p.(Pro762Leu)	NC_000017.10:g.8006708G>A	(Likely) pathogenic	4 labs	6d81017bd6
9:35657859 RMRP C>G	9	35657859	35657859	C	G	RMRP	n.157G>C	NR_003051.3		NC_000009.11:g.35657859C>G	(Likely) benign	3 labs	6d844e1902
1:120285546 PHGDH G>A	1	120285546	120285546	G	A	PHGDH	c.1326G>A	NM_006623.4	NP_006614.2:p.(Thr442=)	NC_000001.10:g.120285546G>A	(Likely) benign	2 labs	6d956eefa9
11:59562908 STX3 C>T	11	59562908	59562908	C	T	STX3	c.739C>T	NM_004177.5	NP_004168.1:p.(Arg247Ter)	NC_000011.9:g.59562908C>T	(Likely) pathogenic	2 labs	6d905b8d6a
2:227898171 COL4A4 C>T	2	227898171	227898171	C	T	COL4A4	c.3532G>A	NM_000092.4	NP_000083.3:p.(Gly1178Ser)	NC_000002.11:g.227898171C>T	(Likely) pathogenic	2 labs	6d906fb176
8:144991205 PLEC C>T	8	144991205	144991205	C	T	PLEC	c.13195G>A	NM_201380.4	NP_958782.1:p.(Val4399Ile)	NC_000008.10:g.144991205C>T	(Likely) benign	2 labs	6da64fceb6
22:37334375 CSF2RB C>T	22	37334375	37334375	C	T	CSF2RB	c.2525C>T	NM_000395.3	NP_000386.1:p.(Pro842Leu)	NC_000022.10:g.37334375C>T	VUS	2 labs	6da9342056
8:143956418 CYP11B1 A>G	8	143956418	143956418	A	G	CYP11B1	c.1353T>C	NM_000497.3	NP_000488.3:p.(Leu451=)	NC_000008.10:g.143956418A>G	(Likely) benign	2 labs	6da999ad91
3:9985136 CRELD1 C>T	3	9985136	9985136	C	T	CRELD1	c.985C>T	NM_015513.6	NP_056328.3:p.(Arg329Cys)	NC_000003.11:g.9985136C>T	(Likely) benign	3 labs	6dbd6ecae8
5:14143868 TRIO G>A	5	14143868	14143868	G	A	TRIO	c.34G>A	NM_007118.4	NP_009049.2:p.(Ala12Thr)	NC_000005.9:g.14143868G>A	(Likely) benign	2 labs	6dbf43408a
4:88968031 PKD2 G>C	4	88968031	88968031	G	C	PKD2	c.1548+9G>C	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88968031G>C	(Likely) benign	2 labs	6dd21390ee
6:51611592 PKHD1 T>C	6	51611592	51611592	T	C	PKHD1	c.9925A>G	NM_138694.4	NP_619639.3:p.(Ile3309Val)	NC_000006.11:g.51611592T>C	(Likely) benign	2 labs	6dd51d343e
1:146756173 CHD1L G>A	1	146756173	146756173	G	A	CHD1L	c.1854+1G>A	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146756173G>A	VUS	2 labs	6e3bee757f
6:129687396 LAMA2 G>A	6	129687396	129687396	G	A	LAMA2	c.4750G>A	NM_000426.4	NP_000417.3:p.(Gly1584Ser)	NC_000006.11:g.129687396G>A	(Likely) benign	3 labs	6def259d99
11:108216479 ATM A>G	11	108216479	108216479	A	G	ATM	c.8428A>G	NM_000051.4	NP_000042.3:p.(Lys2810Glu)	NC_000011.9:g.108216479A>G	VUS	2 labs	6e243902d6
1:155265334 PKLR A>T	1	155265334	155265334	A	T	PKLR	c.401T>A	NM_000298.6	NP_000289.1:p.(Val134Asp)	NC_000001.10:g.155265334A>T	(Likely) pathogenic	2 labs	6e24f801a6
6:42933464 PEX6 G>A	6	42933464	42933464	G	A	PEX6	c.2426C>T	NM_000287.4	NP_000278.3:p.(Ala809Val)	NC_000006.11:g.42933464G>A	(Likely) benign	2 labs	6e2e5f1c9f
20:33004906 ITCH CT>C	20	33004906	33004920	CT	C	ITCH	c.475+3235del	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33004920del	(Likely) benign	2 labs	6e3f57c9f8
17:41219622 BRCA1 T>C	17	41219622	41219622	T	C	BRCA1	c.5074+3A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219622T>C	(Likely) pathogenic	4 labs	6e61b96edc
11:47372950 MYBPC3 G>A	11	47372950	47372950	G	A	MYBPC3	c.132C>T	NM_000256.3	NP_000247.2:p.(Arg44=)	NC_000011.9:g.47372950G>A	(Likely) benign	2 labs	6e5cde839f
1:26393817 TRIM63 C>T	1	26393817	26393817	C	T	TRIM63	c.159+10G>A	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26393817C>T	(Likely) benign	2 labs	6e6750e8cd
X:107863584 COL4A5 G>A	X	107863584	107863584	G	A	COL4A5	c.2605G>A	NM_000495.5	NP_000486.1:p.(Gly869Arg)	NC_000023.10:g.107863584G>A	(Likely) pathogenic	2 labs	6e716005af
13:32912646 BRCA2 C>A	13	32912646	32912646	C	A	BRCA2	c.4154C>A	NM_000059.4	NP_000050.3:p.(Ser1385Ter)	NC_000013.10:g.32912646C>A	(Likely) pathogenic	2 labs	6e782fd458
2:179403750 TTN C>T	2	179403750	179403750	C	T	TTN	c.72092G>A	NM_133432.3	NP_597676.3:p.(Arg24031His)	NC_000002.11:g.179403750C>T	(Likely) benign	2 labs	6e889beb53
16:56914025 SLC12A3 G>A	16	56914025	56914025	G	A	SLC12A3	c.1444-17G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56914025G>A	(Likely) benign	2 labs	6ea9fa41cb
2:189860901 COL3A1 T>A	2	189860901	189860901	T	A	COL3A1	c.1659T>A	NM_000090.4	NP_000081.2:p.(Pro553=)	NC_000002.11:g.189860901T>A	(Likely) benign	2 labs	6ed3b59afd
3:46899969 MYL3 C>T	3	46899969	46899969	C	T	MYL3	c.482-18G>A	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899969C>T	(Likely) benign	3 labs	6ee4d8a5aa
12:6153514 VWF A>G	12	6153514	6153514	A	G	VWF	c.2385T>C	NM_000552.4	NP_000543.2:p.(Tyr795=)	NC_000012.11:g.6153514A>G	(Likely) benign	2 labs	6ede0365ac
2:32353475 SPAST AG>A	2	32353475	32353477	AG	A	SPAST	c.1174del	NM_014946.4	NP_055761.2:p.(Ala392LeufsTer4)	NC_000002.11:g.32353477del	(Likely) pathogenic	2 labs	6edf1f94cd
11:65318961 LTBP3 G>T	11	65318961	65318961	G	T	LTBP3	c.1549-16C>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318961G>T	(Likely) benign	2 labs	6eda92eabb
10:96044734 PLCE1 C>A	10	96044734	96044734	C	A	PLCE1	c.5035+12C>A	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.96044734C>A	(Likely) benign	3 labs	6f1f27a0ac
2:46583281 EPAS1 C>CT	2	46583281	46583282	C	CT	EPAS1	c.218-9_218-8insT	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583281_46583282insT	(Likely) benign	2 labs	6f3deffdb2
2:228131171 COL4A3 G>A	2	228131171	228131171	G	A	COL4A3	c.1354G>A	NM_000091.4	NP_000082.2:p.(Gly452Arg)	NC_000002.11:g.228131171G>A	(Likely) pathogenic	2 labs	6f5055af25
12:22015902 ABCC9 G>T	12	22015902	22015902	G	T	ABCC9	c.2324C>A	NM_005691.4	NP_005682.2:p.(Pro775His)	NC_000012.11:g.22015902G>T	VUS	2 labs	6f68cd626d
15:80460605 FAH G>T	15	80460605	80460605	G	T	FAH	c.554-1G>T	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80460605G>T	(Likely) pathogenic	2 labs	6f70c2f5f3
16:2140568 PKD1 G>A	16	2140568	2140568	G	A	PKD1	c.12162C>T	NM_001009944.2	NP_001009944.2:p.(Ser4054=)	NC_000016.9:g.2140568G>A	(Likely) benign	2 labs	6f7c72a47b
7:138447631 ATP6V0A4 C>G	7	138447631	138447631	C	G	ATP6V0A4	c.417+14G>C	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138447631C>G	(Likely) benign	2 labs	6f7e80e7b4
2:220283826 DES T>G	2	220283826	220283826	T	G	DES	c.578+64T>G	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220283826T>G	(Likely) benign	2 labs	6f7fca8add
1:8616562 RERE C>T	1	8616562	8616562	C	T	RERE	c.697G>A	NM_012102.4	NP_036234.3:p.(Val233Ile)	NC_000001.10:g.8616562C>T	(Likely) benign	2 labs	6f869ce615
4:79400868 FRAS1 C>T	4	79400868	79400868	C	T	FRAS1	c.8439C>T	NM_025074.7	NP_079350.5:p.(Asp2813=)	NC_000004.11:g.79400868C>T	(Likely) benign	2 labs	6f940e908b
10:115380419 NRAP C>T	10	115380419	115380419	C	T	NRAP	c.2818G>A	NM_001261463.2	NP_001248392.1:p.(Ala940Thr)	NC_000010.10:g.115380419C>T	(Likely) benign	2 labs	6fd5562983
1:196757960 CFHR3 G>A	1	196757960	196757960	G	A	CFHR3	c.613+432G>A	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196757960G>A	(Likely) benign	2 labs	6ffa4d10d5
6:32057142 TNXB G>A	6	32057142	32057142	G	A	TNXB	c.2373C>T	NM_019105.8	NP_061978.6:p.(Ser791=)	NC_000006.11:g.32057142G>A	(Likely) benign	2 labs	6ffa5552f7
X:70357249 MED12 G>T	X	70357249	70357249	G	T	MED12	c.5748+16G>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70357249G>T	(Likely) benign	2 labs	70030d7fdb
1:97981395 DPYD T>C	1	97981395	97981395	T	C	DPYD	c.1627A>G	NM_000110.4	NP_000101.2:p.(Ile543Val)	NC_000001.10:g.97981395T>C	(Likely) benign	2 labs	702bd5c56f
12:31244809 DDX11 T>C	12	31244809	31244809	T	C	DDX11	c.1242+4T>C	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31244809T>C	(Likely) benign	3 labs	7036b79f84
12:103246597 PAH C>T	12	103246597	103246597	C	T	PAH	c.838G>A	NM_000277.3	NP_000268.1:p.(Glu280Lys)	NC_000012.11:g.103246597C>T	(Likely) pathogenic	4 labs	7056fafe4e
X:153592500 FLNA T>C	X	153592500	153592500	T	C	FLNA	c.2170A>G	NM_001456.3	NP_001447.2:p.(Lys724Glu)	NC_000023.10:g.153592500T>C	VUS	2 labs	70556c9e22
1:169512120 F5 G>A	1	169512120	169512120	G	A	F5	c.2208C>T	NM_000130.5	NP_000121.2:p.(Ile736=)	NC_000001.10:g.169512120G>A	(Likely) benign	2 labs	d139aca240
1:247587477 NLRP3 G>A	1	247587477	247587477	G	A	NLRP3	c.726G>A	NM_001243133.2	NP_001230062.1:p.(Ala242=)	NC_000001.10:g.247587477G>A	(Likely) benign	3 labs	70708693fa
19:38937121 RYR1 C>T	19	38937121	38937121	C	T	RYR1	c.641C>T	NM_000540.2	NP_000531.2:p.(Thr214Met)	NC_000019.9:g.38937121C>T	VUS	2 labs	707f8ee902
22:51065713 ARSA G>A	22	51065713	51065713	G	A	ARSA	c.346C>T	NM_000487.6	NP_000478.3:p.(Arg116Ter)	NC_000022.10:g.51065713G>A	(Likely) pathogenic	2 labs	7083874595
3:30713789 TGFBR2 A>G	3	30713789	30713789	A	G	TGFBR2	c.1189A>G	NM_001024847.2	NP_001020018.1:p.(Lys397Glu)	NC_000003.11:g.30713789A>G	(Likely) pathogenic	2 labs	706ecd4639
1:63872032 ALG6 T>C	1	63872032	63872032	T	C	ALG6	c.391T>C	NM_013339.4	NP_037471.2:p.(Tyr131His)	NC_000001.10:g.63872032T>C	(Likely) benign	3 labs	70ad2b2730
17:10301897 MYH8 C>T	17	10301897	10301897	C	T	MYH8	c.4042G>A	NM_002472.3	NP_002463.2:p.(Glu1348Lys)	NC_000017.10:g.10301897C>T	(Likely) benign	2 labs	70b711787b
11:6630132 ILK G>A	11	6630132	6630132	G	A	ILK	c.466G>A	NM_004517.4	NP_004508.1:p.(Gly156Ser)	NC_000011.9:g.6630132G>A	VUS	2 labs	d141452f6f
11:125887187 CDON C>G	11	125887187	125887187	C	G	CDON	c.724G>C	NM_016952.5	NP_058648.4:p.(Glu242Gln)	NC_000011.9:g.125887187C>G	VUS	2 labs	d148e97344
12:49426729 KMT2D A>AGCT	12	49426729	49426751	A	AGCT	KMT2D	c.11756_11758dup	NM_003482.3	NP_003473.3:p.(Gln3919dup)	NC_000012.11:g.49426749_49426751dup	(Likely) benign	2 labs	70efab0442
6:43488144 POLR1C A>G	6	43488144	43488144	A	G	POLR1C	c.634A>G	NM_203290.4	NP_976035.1:p.(Met212Val)	NC_000006.11:g.43488144A>G	(Likely) benign	2 labs	70fefe2ff6
3:38639301 SCN5A G>A	3	38639301	38639301	G	A	SCN5A	c.2181C>T	NM_198056.3	NP_932173.1:p.(Ile727=)	NC_000003.11:g.38639301G>A	(Likely) benign	2 labs	710a4bedfb
21:47409881 COL6A1 C>T	21	47409881	47409881	C	T	COL6A1	c.930+189C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47409881C>T	(Likely) pathogenic	2 labs	710e92aa8f
11:119077232 CBL G>GCAC	11	119077232	119077254	G	GCAC	CBL	c.125_127dup	NM_005188.3	NP_005179.2:p.(His42dup)	NC_000011.9:g.119077252_119077254dup	(Likely) benign	2 labs	7118c0546d
11:47364813 MYBPC3 G>A	11	47364813	47364813	G	A	MYBPC3	c.1224C>T	NM_000256.3	NP_000247.2:p.(Ser408=)	NC_000011.9:g.47364813G>A	(Likely) pathogenic	2 labs	7121885a54
14:23893131 MYH7 G>A	14	23893131	23893131	G	A	MYH7	c.2907C>T	NM_000257.4	NP_000248.2:p.(His969=)	NC_000014.8:g.23893131G>A	(Likely) benign	2 labs	7116561118
12:42853871 PRICKLE1 G>A	12	42853871	42853871	G	A	PRICKLE1	c.2236C>T	NM_153026.3	NP_694571.2:p.(Pro746Ser)	NC_000012.11:g.42853871G>A	(Likely) benign	2 labs	713ee2f21c
17:8139428 CTC1 T>C	17	8139428	8139428	T	C	CTC1	c.1025A>G	NM_025099.6	NP_079375.3:p.(Asp342Gly)	NC_000017.10:g.8139428T>C	(Likely) benign	2 labs	713f714095
6:31914890 CFB C>T	6	31914890	31914890	C	T	CFB	c.405C>T	NM_001710.5	NP_001701.2:p.(Tyr135=)	NC_000006.11:g.31914890C>T	(Likely) benign	2 labs	714c4290f9
15:44856873 SPG11 G>A	15	44856873	44856873	G	A	SPG11	c.7023C>T	NM_025137.4	NP_079413.3:p.(Tyr2341=)	NC_000015.9:g.44856873G>A	(Likely) benign	3 labs	71716f340a
7:151257707 PRKAG2 C>T	7	151257707	151257707	C	T	PRKAG2	c.1585-4G>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151257707C>T	(Likely) benign	3 labs	717ff08713
12:110028619 MVK C>T	12	110028619	110028619	C	T	MVK	c.721C>T	NM_000431.4	NP_000422.1:p.(Arg241Cys)	NC_000012.11:g.110028619C>T	(Likely) pathogenic	2 labs	71914b95ad
14:23858270 MYH6 G>GA	14	23858270	23858271	G	GA	MYH6	c.3979-7dup	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271dup	(Likely) benign	5 labs	71abfdd723
14:23896859 MYH7 A>G	14	23896859	23896859	A	G	MYH7	c.1823T>C	NM_000257.4	NP_000248.2:p.(Leu608Ser)	NC_000014.8:g.23896859A>G	VUS	2 labs	71bb1393e5
11:117252437 CEP164 A>G	11	117252437	117252437	A	G	CEP164	c.1430A>G	NM_014956.5	NP_055771.4:p.(His477Arg)	NC_000011.9:g.117252437A>G	(Likely) benign	2 labs	71bd8ff93b
19:6684380 C3 C>T	19	6684380	6684380	C	T	C3	c.4172+19G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6684380C>T	(Likely) benign	2 labs	71c29d5d94
16:2159557 PKD1 C>T	16	2159557	2159557	C	T	PKD1	c.5611G>A	NM_000296.4	NP_000287.4:p.(Ala1871Thr)	NC_000016.9:g.2159557C>T	(Likely) benign	2 labs	71cb5e72e5
2:179408619 TTN T>C	2	179408619	179408619	T	C	TTN	c.69432A>G	NM_133432.3	NP_597676.3:p.(Thr23144=)	NC_000002.11:g.179408619T>C	(Likely) benign	2 labs	71cf48508e
16:2141559 PKD1 C>A	16	2141559	2141559	C	A	PKD1	c.11577G>T	NM_001009944.2	NP_001009944.2:p.(Pro3859=)	NC_000016.9:g.2141559C>A	(Likely) benign	2 labs	71d2bf2425
2:109388999 RANBP2 G>A	2	109388999	109388999	G	A	RANBP2	c.8075G>A	NM_006267.4	NP_006258.3:p.(Gly2692Asp)	NC_000002.11:g.109388999G>A	(Likely) benign	2 labs	71dd5b6551
16:88804353 PIEZO1 G>A	16	88804353	88804353	G	A	PIEZO1	c.1009C>T	NM_001142864.4	NP_001136336.2:p.(Pro337Ser)	NC_000016.9:g.88804353G>A	(Likely) benign	2 labs	71e17e5d69
5:1272354 TERT G>A	5	1272354	1272354	G	A	TERT	c.2328C>T	NM_198253.2	NP_937983.2:p.(Phe776=)	NC_000005.9:g.1272354G>A	(Likely) benign	2 labs	71ec515dff
11:67810160 TCIRG1 A>G	11	67810160	67810160	A	G	TCIRG1				NC_000011.9:g.67810160A>G	(Likely) benign	2 labs	7204fcd9ba
9:5126452 JAK2 A>C	9	5126452	5126452	A	C	JAK2	c.3291+6A>C	NM_001322194.1	NP_001309123.1:p.?	NC_000009.11:g.5126452A>C	(Likely) benign	2 labs	72289f2ffd
2:227924354 COL4A4 A>C	2	227924354	227924354	A	C	COL4A4	c.2165-15T>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924354A>C	(Likely) benign	2 labs	723b1ed48d
1:103496805 COL11A1 GA>G	1	103496805	103496818	GA	G	COL11A1	c.652-6del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496818del	(Likely) benign	4 labs	723ba5fed0
1:160094179 ATP1A2 G>A	1	160094179	160094179	G	A	ATP1A2				NC_000001.10:g.160094179G>A	(Likely) benign	2 labs	72587e4944
1:43890811 SZT2 G>A	1	43890811	43890811	G	A	SZT2	c.2578G>A	NM_015284.4	NP_056099.3:p.(Glu860Lys)	NC_000001.10:g.43890811G>A	(Likely) benign	2 labs	726bb1f941
1:158647522 SPTA1 A>G	1	158647522	158647522	A	G	SPTA1	c.915T>C	NM_003126.4	NP_003117.2:p.(Ser305=)	NC_000001.10:g.158647522A>G	(Likely) benign	2 labs	72784312a7
13:32954340 BRCA2 A>T	13	32954340	32954340	A	T	BRCA2	c.9256+58A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954340A>T	(Likely) benign	3 labs	72815d41af
2:32362275 SPAST G>T	2	32362275	32362275	G	T	SPAST	c.1493+18G>T	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32362275G>T	(Likely) benign	4 labs	d16b5fa94a
1:6027365 NPHP4 C>T	1	6027365	6027365	C	T	NPHP4	c.511G>A	NM_015102.5	NP_055917.1:p.(Ala171Thr)	NC_000001.10:g.6027365C>T	(Likely) benign	2 labs	7295c3fbd4
20:43042407 HNF4A T>C	20	43042407	43042407	T	C	HNF4A	c.384T>C	NM_001287182.2	NP_001274111.1:p.(Asn128=)	NC_000020.10:g.43042407T>C	(Likely) benign	2 labs	72a7d1e552
12:8671759 CLEC4D G>A	12	8671759	8671759	G	A	CLEC4D	c.384+3G>A	NM_080387.5	NP_525126.2:p.?	NC_000012.11:g.8671759G>A	(Likely) benign	2 labs	72b3c7bb29
11:47361084 MYBPC3 T>C	11	47361084	47361084	T	C	MYBPC3	c.2067+118A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361084T>C	(Likely) benign	2 labs	72d39ea44a
9:130578230 ENG G>A	9	130578230	130578230	G	A	ENG	c.1844C>T	NM_001114753.3	NP_001108225.1:p.(Ser615Leu)	NC_000009.11:g.130578230G>A	(Likely) benign	2 labs	72bc20421b
2:179528425 TTN G>C	2	179528425	179528425	G	C	TTN	c.36461C>G	NM_001267550.2	NP_001254479.2:p.(Pro12154Arg)	NC_000002.11:g.179528425G>C	(Likely) benign	6 labs	d16f0717ee
2:15536522 NBAS T>C	2	15536522	15536522	T	C	NBAS	c.3134+15A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15536522T>C	(Likely) benign	2 labs	7305208a89
2:228162641 COL4A3 C>T	2	228162641	228162641	C	T	COL4A3	c.3751+66C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228162641C>T	(Likely) benign	2 labs	73500b4dcf
7:138429866 ATP6V0A4 A>C	7	138429866	138429866	A	C	ATP6V0A4	c.1478+2T>G	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138429866A>C	(Likely) pathogenic	2 labs	73622d3f3e
X:129518716 GPR119 G>C	X	129518716	129518716	G	C	GPR119	c.706C>G	NM_178471.2	NP_848566.1:p.(Leu236Val)	NC_000023.10:g.129518716G>C	(Likely) benign	2 labs	736f573f2f
4:15568992 CC2D2A T>C	4	15568992	15568992	T	C	CC2D2A	c.3183-8T>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15568992T>C	(Likely) benign	3 labs	d1779be856
5:14488089 TRIO C>A	5	14488089	14488089	C	A	TRIO	c.7352C>A	NM_007118.4	NP_009049.2:p.(Ala2451Asp)	NC_000005.9:g.14488089C>A	(Likely) benign	2 labs	73ad2fe044
2:228145261 COL4A3 G>T	2	228145261	228145261	G	T	COL4A3	c.2329G>T	NM_000091.4	NP_000082.2:p.(Gly777Cys)	NC_000002.11:g.228145261G>T	(Likely) pathogenic	2 labs	73cf8a3788
15:42691838 CAPN3 C>T	15	42691838	42691838	C	T	CAPN3	c.1342C>T	NM_000070.3	NP_000061.1:p.(Arg448Cys)	NC_000015.9:g.42691838C>T	(Likely) pathogenic	3 labs	73d268417e
19:38997024 RYR1 G>A	19	38997024	38997024	G	A	RYR1	c.8616+7G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38997024G>A	(Likely) benign	2 labs	73d91af6f0
9:124065219 GSN C>T	9	124065219	124065219	C	T	GSN	c.380C>T	NM_000177.5	NP_000168.1:p.(Ala127Val)	NC_000009.11:g.124065219C>T	(Likely) benign	2 labs	73db771d0d
1:43805737 MPL C>T	1	43805737	43805737	C	T	MPL	c.793C>T	NM_005373.2	NP_005364.1:p.(Leu265Phe)	NC_000001.10:g.43805737C>T	(Likely) benign	2 labs	73dba22092
13:32893317 BRCA2 C>G	13	32893317	32893317	C	G	BRCA2	c.171C>G	NM_000059.4	NP_000050.3:p.(Tyr57Ter)	NC_000013.10:g.32893317C>G	(Likely) pathogenic	2 labs	d1807e6aca
2:179466424 TTN C>A	2	179466424	179466424	C	A	TTN	c.55393G>T	NM_001267550.2	NP_001254479.2:p.(Ala18465Ser)	NC_000002.11:g.179466424C>A	VUS	5 labs	d184263d9d
16:56906321 SLC12A3 C>T	16	56906321	56906321	C	T	SLC12A3	c.911C>T	NM_000339.3	NP_000330.3:p.(Thr304Met)	NC_000016.9:g.56906321C>T	(Likely) pathogenic	2 labs	743f793cfc
1:156104719 LMNA C>G	1	156104719	156104719	C	G	LMNA				NC_000001.10:g.156104719C>G	VUS	2 labs	7441fd32e0
15:65370107 KBTBD13 C>G	15	65370107	65370107	C	G	KBTBD13	c.954C>G	NM_001101362.3	NP_001094832.1:p.(Thr318=)	NC_000015.9:g.65370107C>G	(Likely) benign	2 labs	743de1a5dd
2:152402516 NEB A>T	2	152402516	152402516	A	T	NEB	c.20467-4T>A	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152402516A>T	(Likely) benign	2 labs	7449c96cdc
1:156106982 LMNA G>A	1	156106982	156106982	G	A	LMNA	c.1567G>A	NM_170707.4	NP_733821.1:p.(Gly523Arg)	NC_000001.10:g.156106982G>A	VUS	5 labs	d18a0c706b
6:51491842 PKHD1 C>T	6	51491842	51491842	C	T	PKHD1	c.11738G>A	NM_138694.4	NP_619639.3:p.(Arg3913His)	NC_000006.11:g.51491842C>T	(Likely) benign	2 labs	747911fb54
11:20623007 SLC6A5 C>T	11	20623007	20623007	C	T	SLC6A5	c.336C>T	NM_004211.5	NP_004202.4:p.(Ser112=)	NC_000011.9:g.20623007C>T	(Likely) benign	2 labs	7494ffc1d4
1:114445351 AP4B1 C>G	1	114445351	114445351	C	G	AP4B1	c.247G>C	NM_006594.5	NP_006585.2:p.(Ala83Pro)	NC_000001.10:g.114445351C>G	VUS	3 labs	d19abcef78
3:160093678 IFT80 G>T	3	160093678	160093678	G	T	IFT80	c.371-10C>A	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.160093678G>T	(Likely) benign	2 labs	74953f6e56
6:32063460 TNXB G>A	6	32063460	32063460	G	A	TNXB	c.2170C>T	NM_019105.8	NP_061978.6:p.(Arg724Cys)	NC_000006.11:g.32063460G>A	(Likely) benign	2 labs	74cf2c179b
16:2152427 PKD1 G>A	16	2152427	2152427	G	A	PKD1	c.9156C>T	NM_001009944.2	NP_001009944.2:p.(Gly3052=)	NC_000016.9:g.2152427G>A	(Likely) benign	2 labs	74e013d276
1:158582646 SPTA1 T>C	1	158582646	158582646	T	C	SPTA1	c.7095A>G	NM_003126.4	NP_003117.2:p.(Ala2365=)	NC_000001.10:g.158582646T>C	(Likely) benign	2 labs	75030ca323
2:46603764 EPAS1 T>A	2	46603764	46603764	T	A	EPAS1	c.1121T>A	NM_001430.5	NP_001421.2:p.(Phe374Tyr)	NC_000002.11:g.46603764T>A	(Likely) benign	3 labs	7507dae789
7:30671845 GARS1 T>C	7	30671845	30671845	T	C	GARS1	c.1742-18T>C	NM_001316772.1	NP_001303701.1:p.?	NC_000007.13:g.30671845T>C	(Likely) benign	2 labs	74f8bc46ce
22:50885577 SBF1 G>A	22	50885577	50885577	G	A	SBF1	c.5676C>T	NM_002972.4	NP_002963.2:p.(Asp1892=)	NC_000022.10:g.50885577G>A	(Likely) benign	2 labs	752144da03
12:110013879 MVK G>A	12	110013879	110013879	G	A	MVK	c.155G>A	NM_000431.2	NP_000422.1:p.(Ser52Asn)	NC_000012.11:g.110013879G>A	(Likely) benign	2 labs	75435dbd9e
19:11559889 PRKCSH A>G	19	11559889	11559889	A	G	PRKCSH	c.1341-2A>G	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11559889A>G	(Likely) pathogenic	2 labs	754426ec6c
9:123769200 C5 C>T	9	123769200	123769200	C	T	C5	c.2404G>A	NM_001735.3	NP_001726.2:p.(Val802Ile)	NC_000009.11:g.123769200C>T	(Likely) benign	2 labs	d1aefd5b56
10:90770373 FAS C>T	10	90770373	90770373	C	T	FAS	c.505+16C>T	NM_000043.6	NP_000034.1:p.?	NC_000010.10:g.90770373C>T	(Likely) benign	2 labs	7550ef718c
12:6105396 VWF G>C	12	6105396	6105396	G	C	VWF	c.5843-8C>G	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6105396G>C	(Likely) benign	3 labs	758b28979c
10:79769647 POLR3A C>A	10	79769647	79769647	C	A	POLR3A	c.1745G>T	NM_007055.4	NP_008986.2:p.(Arg582Leu)	NC_000010.10:g.79769647C>A	(Likely) benign	2 labs	759081dbfe
2:215595181 BARD1 T>TCATACTTTTCTTCCTGTTCA	2	215595181	215595214	T	TCATACTTTTCTTCCTGTTCA	BARD1	c.1935_1954dup	NM_000465.4	NP_000456.2:p.(Glu652ValfsTer69)	NC_000002.11:g.215595195_215595214dup	(Likely) pathogenic	2 labs	7589f435f3
3:25642709 TOP2B C>T	3	25642709	25642709	C	T	TOP2B	c.4482G>A	NM_001068.3	NP_001059.2:p.(Pro1494=)	NC_000003.11:g.25642709C>T	(Likely) benign	2 labs	75aa08d585
12:6450945 TNFRSF1A T>C	12	6450945	6450945	T	C	TNFRSF1A	c.36A>G	NM_001065.4	NP_001056.1:p.(Pro12=)	NC_000012.11:g.6450945T>C	(Likely) benign	2 labs	75b0bae9f6
19:7619850 PNPLA6 C>T	19	7619850	7619850	C	T	PNPLA6	c.2736C>T	NM_001166111.2	NP_001159583.1:p.(Gly912=)	NC_000019.9:g.7619850C>T	(Likely) benign	2 labs	75da7b2529
2:131350516 CFC1 C>G	2	131350516	131350516	C	G	CFC1	c.606G>C	NM_032545.3	NP_115934.1:p.(Leu202=)	NC_000002.11:g.131350516C>G	(Likely) benign	3 labs	75fdb2e205
2:109370398 RANBP2 A>G	2	109370398	109370398	A	G	RANBP2	c.2173A>G	NM_006267.5	NP_006258.3:p.(Ser725Gly)	NC_000002.11:g.109370398A>G	(Likely) benign	2 labs	7659390111
1:196884193 CFHR4 T>C	1	196884193	196884193	T	C	CFHR4	c.1465T>C	NM_001201550.3	NP_001188479.1:p.(Ser489Pro)	NC_000001.10:g.196884193T>C	(Likely) benign	2 labs	7655366fe0
20:62076100 KCNQ2 C>T	20	62076100	62076100	C	T	KCNQ2	c.602G>A	NM_172107.4	NP_742105.1:p.(Arg201His)	NC_000020.10:g.62076100C>T	(Likely) pathogenic	2 labs	7658aa56eb
10:17153023 CUBN C>T	10	17153023	17153023	C	T	CUBN	c.910G>A	NM_001081.3	NP_001072.2:p.(Glu304Lys)	NC_000010.10:g.17153023C>T	(Likely) benign	2 labs	765b886707
7:73462008 ELN G>T	7	73462008	73462008	G	T	ELN	c.647G>T	NM_000501.4	NP_000492.2:p.(Gly216Val)	NC_000007.13:g.73462008G>T	(Likely) benign	3 labs	764e8d3a30
16:2158387 PKD1 CAAT>C	16	2158387	2158390	CAAT	C	PKD1	c.6778_6780del	NM_001009944.3	NP_001009944.3:p.(Ile2260del)	NC_000016.9:g.2158388_2158390del	(Likely) pathogenic	2 labs	766e7c17bd
18:28659917 DSC2 A>G	18	28659917	28659917	A	G	DSC2	c.1559T>C	NM_004949.3	NP_004940.1:p.(Ile520Thr)	NC_000018.9:g.28659917A>G	(Likely) benign	2 labs	769d627e57
9:140130653 SLC34A3 A>T	9	140130653	140130653	A	T	SLC34A3	c.1585A>T	NM_080877.2	NP_543153.1:p.(Ile529Phe)	NC_000009.11:g.140130653A>T	(Likely) benign	2 labs	76a9242c04
15:48717942 FBN1 AG>A	15	48717942	48717944	AG	A	FBN1	c.7323del	NM_000138.5	NP_000129.3:p.(Cys2442ValfsTer2)	NC_000015.9:g.48717944del	(Likely) pathogenic	2 labs	76a9ce7ae7
2:179511767 TTN G>GTA	2	179511767	179511789	G	GTA	TTN	c.40222+22_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511788_179511789dup	(Likely) benign	3 labs	76bce09598
11:111707014 ALG9 C>T	11	111707014	111707014	C	T	ALG9	c.1476G>A	NM_024740.2	NP_079016.2:p.(Trp492Ter)	NC_000011.9:g.111707014C>T	(Likely) pathogenic	2 labs	76dbceef60
9:111656258 ELP1 C>T	9	111656258	111656258	C	T	ELP1	c.2825G>A	NM_003640.5	NP_003631.2:p.(Arg942Gln)	NC_000009.11:g.111656258C>T	VUS	3 labs	76da65d23c
12:121435427 HNF1A G>A	12	121435427	121435427	G	A	HNF1A	c.1460G>A	NM_000545.8	NP_000536.6:p.(Ser487Asn)	NC_000012.11:g.121435427G>A	(Likely) benign	2 labs	76f013e6c1
17:62034557 SCN4A C>T	17	62034557	62034557	C	T	SCN4A	c.2341G>A	NM_000334.4	NP_000325.4:p.(Val781Ile)	NC_000017.10:g.62034557C>T	(Likely) benign	3 labs	770febdfc9
11:47371439 MYBPC3 G>A	11	47371439	47371439	G	A	MYBPC3	c.540C>T	NM_000256.3	NP_000247.2:p.(Gly180=)	NC_000011.9:g.47371439G>A	(Likely) benign	4 labs	772eafbebe
16:1614102 IFT140 G>A	16	1614102	1614102	G	A	IFT140	c.1963C>T	NM_014714.4	NP_055529.2:p.(Gln655Ter)	NC_000016.9:g.1614102G>A	(Likely) pathogenic	2 labs	77411cf63c
5:901553 TRIP13 T>C	5	901553	901553	T	C	TRIP13	c.535+7T>C	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.901553T>C	(Likely) benign	2 labs	776a25bd48
9:124091559 GSN C>T	9	124091559	124091559	C	T	GSN	c.2084C>T	NM_000177.5	NP_000168.1:p.(Thr695Met)	NC_000009.11:g.124091559C>T	(Likely) benign	3 labs	7772504543
5:14498270 TRIO G>A	5	14498270	14498270	G	A	TRIO	c.8120G>A	NM_007118.4	NP_009049.2:p.(Arg2707Gln)	NC_000005.9:g.14498270G>A	(Likely) benign	2 labs	d1cfba202f
2:219942026 NHEJ1 T>A	2	219942026	219942026	T	A	NHEJ1	c.767A>T	NM_024782.3	NP_079058.1:p.(Gln256Leu)	NC_000002.11:g.219942026T>A	(Likely) benign	2 labs	7778e635e5
2:179519493 TTN G>A	2	179519493	179519493	G	A	TTN	c.38185C>T	NM_001267550.2	NP_001254479.2:p.(Pro12729Ser)	NC_000002.11:g.179519493G>A	(Likely) benign	2 labs	77974ead41
2:166848367 SCN1A C>T	2	166848367	166848367	C	T	SCN1A	c.5418G>A	NM_001202435.3	NP_001189364.1:p.(Glu1806=)	NC_000002.11:g.166848367C>T	(Likely) benign	4 labs	77d2024bb8
4:39233878 WDR19 A>G	4	39233878	39233878	A	G	WDR19	c.2239A>G	NM_025132.4	NP_079408.3:p.(Ile747Val)	NC_000004.11:g.39233878A>G	(Likely) benign	2 labs	77bb0a59d2
16:51172901 SALL1 C>T	16	51172901	51172901	C	T	SALL1	c.3232G>A	NM_002968.2	NP_002959.2:p.(Ala1078Thr)	NC_000016.9:g.51172901C>T	(Likely) benign	2 labs	77c81149e6
16:31499784 SLC5A2 C>T	16	31499784	31499784	C	T	SLC5A2	c.1102C>T	NM_003041.4	NP_003032.1:p.(Arg368Trp)	NC_000016.9:g.31499784C>T	(Likely) pathogenic	2 labs	77d45eecc0
13:32911822 BRCA2 A>C	13	32911822	32911822	A	C	BRCA2	c.3330A>C	NM_000059.3	NP_000050.2:p.(Glu1110Asp)	NC_000013.10:g.32911822A>C	(Likely) benign	2 labs	77db808a45
6:152650992 SYNE1 G>A	6	152650992	152650992	G	A	SYNE1	c.14828C>T	NM_182961.4	NP_892006.3:p.(Ala4943Val)	NC_000006.11:g.152650992G>A	VUS	2 labs	77e7d2168c
8:145008497 PLEC G>C	8	145008497	145008497	G	C	PLEC	c.1569C>G	NM_201380.4	NP_958782.1:p.(Ser523Arg)	NC_000008.10:g.145008497G>C	(Likely) benign	2 labs	77ed44b703
22:51159667 SHANK3 G>A	22	51159667	51159667	G	A	SHANK3	c.3631G>A	NM_001372044.1	NP_001358973.1:p.(Ala1211Thr)	NC_000022.10:g.51159667G>A	(Likely) benign	2 labs	7808dc5bc1
3:38592504 SCN5A T>C	3	38592504	38592504	T	C	SCN5A	c.5359A>G	NM_198056.2	NP_932173.1:p.(Ser1787Gly)	NC_000003.11:g.38592504T>C	VUS	2 labs	780d64f1d0
2:152449688 NEB A>G	2	152449688	152449688	A	G	NEB	c.14563T>C	NM_001271208.1	NP_001258137.1:p.(Leu4855=)	NC_000002.11:g.152449688A>G	(Likely) benign	2 labs	7816da8488
2:241810796 AGXT T>A	2	241810796	241810796	T	A	AGXT	c.454T>A	NM_000030.3	NP_000021.1:p.(Phe152Ile)	NC_000002.11:g.241810796T>A	(Likely) pathogenic	2 labs	78291f313d
1:156085022 LMNA G>T	1	156085022	156085022	G	T	LMNA	c.313G>T	NM_170707.4	NP_733821.1:p.(Glu105Ter)	NC_000001.10:g.156085022G>T	(Likely) pathogenic	2 labs	78323ed92f
16:56536660 BBS2 T>C	16	56536660	56536660	T	C	BBS2	c.865A>G	NM_031885.5	NP_114091.4:p.(Ile289Val)	NC_000016.9:g.56536660T>C	(Likely) benign	3 labs	784d5cb2e2
16:56901065 SLC12A3 A>G	16	56901065	56901065	A	G	SLC12A3	c.366A>G	NM_000339.3	NP_000330.3:p.(Ala122=)	NC_000016.9:g.56901065A>G	(Likely) benign	2 labs	78869d8118
2:179428604 TTN G>A	2	179428604	179428604	G	A	TTN	c.82255C>T	NM_001267550.2	NP_001254479.2:p.(Gln27419Ter)	NC_000002.11:g.179428604G>A	(Likely) pathogenic	2 labs	78947dfeec
2:152420160 NEB C>T	2	152420160	152420160	C	T	NEB	c.18653G>A	NM_001271208.1	NP_001258137.1:p.(Gly6218Asp)	NC_000002.11:g.152420160C>T	(Likely) benign	2 labs	78af58de4e
1:202733276 KDM5B TA>T	1	202733276	202733283	TA	T	KDM5B	c.712-4del	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202733283del	(Likely) benign	2 labs	d1df0c9c61
2:47707876 MSH2 G>A	2	47707876	47707876	G	A	MSH2	c.2500G>A	NM_000251.3	NP_000242.1:p.(Ala834Thr)	NC_000002.11:g.47707876G>A	(Likely) benign	3 labs	790861a528
11:72004419 CLPB T>C	11	72004419	72004419	T	C	CLPB	c.1981A>G	NM_001258394.2	NP_001245323.1:p.(Thr661Ala)	NC_000011.9:g.72004419T>C	(Likely) benign	2 labs	78f9158859
1:120497840 NOTCH2 A>T	1	120497840	120497840	A	T	NOTCH2	c.2042T>A	NM_024408.4	NP_077719.2:p.(Ile681Asn)	NC_000001.10:g.120497840A>T	(Likely) benign	2 labs	78f97140e7
7:47930136 PKD1L1 G>A	7	47930136	47930136	G	A	PKD1L1	c.2675+4C>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47930136G>A	(Likely) benign	2 labs	790d78d58a
19:13345736 CACNA1A G>A	19	13345736	13345736	G	A	CACNA1A	c.5266C>T	NM_023035.3	NP_075461.2:p.(Arg1756Trp)	NC_000019.9:g.13345736G>A	(Likely) pathogenic	2 labs	790fa2986f
19:3110151 GNA11 G>A	19	3110151	3110151	G	A	GNA11	c.141G>A	NM_002067.5	NP_002058.2:p.(Thr47=)	NC_000019.9:g.3110151G>A	(Likely) benign	2 labs	7917e3ee8e
8:145004546 PLEC G>A	8	145004546	145004546	G	A	PLEC	c.2868+6C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145004546G>A	(Likely) benign	2 labs	d1e685a7cc
14:23744800 HOMEZ ACAT>A	14	23744800	23744825	ACAT	A	HOMEZ	c.1634_1636del	NM_020834.3	NP_065885.2:p.(Asp545del)	NC_000014.8:g.23744823_23744825del	(Likely) benign	2 labs	79114b7cf7
22:45683304 UPK3A G>C	22	45683304	45683304	G	C	UPK3A	c.460G>C	NM_006953.4	NP_008884.1:p.(Ala154Pro)	NC_000022.10:g.45683304G>C	(Likely) benign	2 labs	793d94304f
20:62293308 RTEL1 G>A	20	62293308	62293308	G	A	RTEL1	c.395+12G>A	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62293308G>A	(Likely) benign	2 labs	792db0cb72
16:2142143 PKD1 G>C	16	2142143	2142143	G	C	PKD1	c.11316C>G	NM_001009944.2	NP_001009944.2:p.(Ala3772=)	NC_000016.9:g.2142143G>C	(Likely) benign	2 labs	793296ba99
15:35083508 ACTC1 TCACACACACACACACACA>T	15	35083508	35083554	TCACACACACACACACACA	T	ACTC1	c.809-30_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083537_35083554del	(Likely) benign	4 labs	795ba6a85f
13:32907535 BRCA2 CTT>C	13	32907535	32907546	CTT	C	BRCA2	c.1909+21_1909+22del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907545_32907546del	(Likely) benign	2 labs	79513b1c0b
1:78408219 NEXN G>T	1	78408219	78408219	G	T	NEXN	c.1733G>T	NM_144573.4	NP_653174.3:p.(Arg578Ile)	NC_000001.10:g.78408219G>T	VUS	2 labs	795f57be72
15:68504207 CLN6 G>A	15	68504207	68504207	G	A	CLN6	c.298-6C>T	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68504207G>A	(Likely) benign	2 labs	798ce91432
11:62398274 GANAB G>A	11	62398274	62398274	G	A	GANAB	c.462C>T	NM_001329224.1	NP_001316153.1:p.(Gly154=)	NC_000011.9:g.62398274G>A	(Likely) benign	2 labs	79a193c3da
X:153296917 MECP2 GA>G	X	153296917	153296920	GA	G	MECP2	c.378-17del	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153296920del	(Likely) benign	2 labs	d1e96109de
X:49113312 FOXP3 G>A	X	49113312	49113312	G	A	FOXP3	c.543C>T	NM_014009.4	NP_054728.2:p.(Ser181=)	NC_000023.10:g.49113312G>A	(Likely) benign	3 labs	79bd459553
1:16378739 CLCNKB G>A	1	16378739	16378739	G	A	CLCNKB	c.1455G>A	NM_000085.4	NP_000076.2:p.(Ala485=)	NC_000001.10:g.16378739G>A	(Likely) benign	2 labs	79d5ecad2d
11:47356748 MYBPC3 AC>A	11	47356748	47356751	AC	A	MYBPC3	c.2749del	NM_000256.3	NP_000247.2:p.(Val917TrpfsTer7)	NC_000011.9:g.47356751del	(Likely) pathogenic	2 labs	79de804e7a
11:6630320 ILK A>C	11	6630320	6630320	A	C	ILK	c.551A>C	NM_001014795.3	NP_001014795.1:p.(Lys184Thr)	NC_000011.9:g.6630320A>C	VUS	2 labs	7a15b129cb
3:148916215 CP G>A	3	148916215	148916215	G	A	CP	c.1652C>T	NM_000096.4	NP_000087.2:p.(Thr551Ile)	NC_000003.11:g.148916215G>A	(Likely) benign	4 labs	da0c43e75e
3:38622570 SCN5A C>T	3	38622570	38622570	C	T	SCN5A	c.3080G>A	NM_198056.3	NP_932173.1:p.(Arg1027Gln)	NC_000003.11:g.38622570C>T	VUS	2 labs	7a078755d0
6:7585670 DSP C>A	6	7585670	7585670	C	A	DSP	c.8175C>A	NM_004415.4	NP_004406.2:p.(Arg2725=)	NC_000006.11:g.7585670C>A	(Likely) benign	6 labs	d202179902
15:73624487 HCN4 G>A	15	73624487	73624487	G	A	HCN4	c.1356C>T	NM_005477.3	NP_005468.1:p.(Ser452=)	NC_000015.9:g.73624487G>A	(Likely) benign	6 labs	d2125c60a7
12:6061559 VWF C>T	12	6061559	6061559	C	T	VWF	c.8113G>A	NM_000552.4	NP_000543.2:p.(Gly2705Arg)	NC_000012.11:g.6061559C>T	(Likely) benign	2 labs	7a943119cc
12:121416650 HNF1A A>C	12	121416650	121416650	A	C	HNF1A	c.79A>C	NM_000545.8	NP_000536.6:p.(Ile27Leu)	NC_000012.11:g.121416650A>C	(Likely) benign	2 labs	7a96f0062b
X:153760484 G6PD C>A	X	153760484	153760484	C	A	G6PD	c.1376G>T	NM_001042351.2	NP_001035810.1:p.(Arg459Leu)	NC_000023.10:g.153760484C>A	(Likely) pathogenic	2 labs	7a9d245f01
9:123776245 C5 C>T	9	123776245	123776245	C	T	C5	c.2163G>A	NM_001735.2	NP_001726.2:p.(Gly721=)	NC_000009.11:g.123776245C>T	(Likely) benign	2 labs	7a9f7af653
2:179456782 TTN C>T	2	179456782	179456782	C	T	TTN	c.33029G>A	NM_133432.3	NP_597676.3:p.(Arg11010Gln)	NC_000002.11:g.179456782C>T	VUS	2 labs	7a9fd788c6
6:18122452 NHLRC1 G>T	6	18122452	18122452	G	T	NHLRC1	c.386C>A	NM_198586.3	NP_940988.2:p.(Pro129His)	NC_000006.11:g.18122452G>T	(Likely) pathogenic	2 labs	7aaf16cc6e
12:13720098 GRIN2B C>G	12	13720098	13720098	C	G	GRIN2B	c.2459G>C	NM_000834.5	NP_000825.2:p.(Gly820Ala)	NC_000012.11:g.13720098C>G	(Likely) pathogenic	3 labs	7aec760290
8:6478956 MCPH1 A>G	8	6478956	6478956	A	G	MCPH1	c.2215-19A>G	NM_024596.5	NP_078872.3:p.?	NC_000008.10:g.6478956A>G	(Likely) benign	3 labs	d222eff42e
2:179526853 TTN C>T	2	179526853	179526853	C	T	TTN	c.37120+16G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179526853C>T	(Likely) benign	2 labs	7af483b877
15:48782284 FBN1 G>A	15	48782284	48782284	G	A	FBN1	c.2855-9C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48782284G>A	(Likely) benign	2 labs	7ada66bbd5
2:179578108 TTN T>TACAAAACAAA	2	179578108	179578139	T	TACAAAACAAA	TTN	c.26762-19_26762-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578130_179578139dup	(Likely) benign	3 labs	7ae415b24a
2:166850722 SCN1A G>A	2	166850722	166850722	G	A	SCN1A	c.4786C>T	NM_001165963.3	NP_001159435.1:p.(Arg1596Cys)	NC_000002.11:g.166850722G>A	(Likely) pathogenic	2 labs	7b3118a295
1:236918420 ACTN2 C>T	1	236918420	236918420	C	T	ACTN2	c.2076C>T	NM_001103.4	NP_001094.1:p.(Ile692=)	NC_000001.10:g.236918420C>T	(Likely) benign	4 labs	d226a7d8fa
16:51175655 SALL1 C>T	16	51175655	51175655	C	T	SALL1	c.478G>A	NM_002968.2	NP_002959.2:p.(Gly160Ser)	NC_000016.9:g.51175655C>T	(Likely) benign	2 labs	7b54daf42c
2:27305360 EMILIN1 C>T	2	27305360	27305360	C	T	EMILIN1	c.921C>T	NM_007046.4	NP_008977.1:p.(Ala307=)	NC_000002.11:g.27305360C>T	(Likely) benign	2 labs	7b465ac600
2:179407153 TTN G>A	2	179407153	179407153	G	A	TTN	c.97330C>T	NM_001267550.2	NP_001254479.2:p.(Arg32444Cys)	NC_000002.11:g.179407153G>A	VUS	3 labs	d2271e172d
5:35876251 IL7R A>C	5	35876251	35876251	A	C	IL7R				NC_000005.9:g.35876251A>C	(Likely) benign	2 labs	7b7a0a0fea
20:3065266 AVP C>T	20	3065266	3065266	C	T	AVP	c.55G>A	NM_000490.4	NP_000481.2:p.(Ala19Thr)	NC_000020.10:g.3065266C>T	(Likely) pathogenic	2 labs	7b7e085464
13:39263789 FREM2 G>A	13	39263789	39263789	G	A	FREM2	c.2308G>A	NM_207361.6	NP_997244.4:p.(Val770Met)	NC_000013.10:g.39263789G>A	(Likely) benign	2 labs	7b8ff21cab
19:33902672 PEPD G>T	19	33902672	33902672	G	T	PEPD	c.741-17C>A	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33902672G>T	(Likely) benign	2 labs	7b925d78ec
5:125885627 ALDH7A1 C>T	5	125885627	125885627	C	T	ALDH7A1	c.1483G>A	NM_001182.5	NP_001173.2:p.(Ala495Thr)	NC_000005.9:g.125885627C>T	(Likely) pathogenic	2 labs	7b9806e632
10:92678748 ANKRD1 A>AATATAT	10	92678748	92678773	A	AATATAT	ANKRD1	c.346-25_346-20dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678768_92678773dup	(Likely) benign	2 labs	7ba87dbbca
22:32871383 FBXO7 T>G	22	32871383	32871383	T	G	FBXO7	c.35T>G	NM_001033024.2	NP_001028196.1:p.(Leu12Arg)	NC_000022.10:g.32871383T>G	(Likely) benign	2 labs	d2311b9619
2:42995018 HAAO G>A	2	42995018	42995018	G	A	HAAO	c.681C>T	NM_012205.3	NP_036337.2:p.(Asp227=)	NC_000002.11:g.42995018G>A	(Likely) benign	2 labs	7bc25875df
19:49661153 TRPM4 C>G	19	49661153	49661153	C	G	TRPM4	c.24+6C>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49661153C>G	(Likely) benign	2 labs	7bcb97c5dd
17:39914757 JUP A>G	17	39914757	39914757	A	G	JUP	c.1667T>C	NM_002230.4	NP_002221.1:p.(Met556Thr)	NC_000017.10:g.39914757A>G	VUS	3 labs	7bce6708b7
13:32945115 BRCA2 G>A	13	32945115	32945115	G	A	BRCA2	c.8510G>A	NM_000059.3	NP_000050.2:p.(Gly2837Glu)	NC_000013.10:g.32945115G>A	VUS	2 labs	7be8ca023e
1:228550429 OBSCN C>T	1	228550429	228550429	C	T	OBSCN	c.18814C>T	NM_001098623.2	NP_001092093.2:p.(Pro6272Ser)	NC_000001.10:g.228550429C>T	(Likely) benign	3 labs	7be961358d
15:26793069 GABRB3 C>T	15	26793069	26793069	C	T	GABRB3	c.1038G>A	NM_001278631.2	NP_001265560.1:p.(Arg346=)	NC_000015.9:g.26793069C>T	(Likely) benign	2 labs	7bd4c9a992
2:32461304 NLRC4 T>A	2	32461304	32461304	T	A	NLRC4	c.2614+12A>T	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32461304T>A	(Likely) benign	2 labs	7c04ad175e
16:2133767 TSC2 G>A	16	2133767	2133767	G	A	TSC2	c.3955G>A	NM_000548.3	NP_000539.2:p.(Asp1319Asn)	NC_000016.9:g.2133767G>A	(Likely) benign	2 labs	7c0067b76d
10:18439900 CACNB2 G>A	10	18439900	18439900	G	A	CACNB2	c.125G>A	NM_201571.4	NP_963865.2:p.(Arg42His)	NC_000010.10:g.18439900G>A	(Likely) benign	2 labs	7c00a45053
6:7585144 DSP G>A	6	7585144	7585144	G	A	DSP	c.7649G>A	NM_004415.2	NP_004406.2:p.(Gly2550Asp)	NC_000006.11:g.7585144G>A	VUS	2 labs	7c1d90c30d
X:153590902 FLNA G>A	X	153590902	153590902	G	A	FLNA	c.2449C>T	NM_001110556.2	NP_001104026.1:p.(Pro817Ser)	NC_000023.10:g.153590902G>A	(Likely) benign	2 labs	7c21924127
2:179397568 TTN G>T	2	179397568	179397568	G	T	TTN	c.103774C>A	NM_001267550.2	NP_001254479.2:p.(Pro34592Thr)	NC_000002.11:g.179397568G>T	VUS	2 labs	7c0ada4098
3:78684908 ROBO1 T>C	3	78684908	78684908	T	C	ROBO1	c.3238+15A>G	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78684908T>C	(Likely) benign	2 labs	7c1e3e0102
21:47754666 PCNT G>A	21	47754666	47754666	G	A	PCNT	c.623G>A	NM_006031.6	NP_006022.3:p.(Arg208His)	NC_000021.8:g.47754666G>A	(Likely) benign	2 labs	d2389969b9
19:55663250 TNNI3 G>A	19	55663250	55663250	G	A	TNNI3	c.585C>T	NM_000363.4	NP_000354.4:p.(Ile195=)	NC_000019.9:g.55663250G>A	(Likely) benign	2 labs	7c86e7782a
10:69961675 MYPN G>A	10	69961675	69961675	G	A	MYPN	c.3583G>A	NM_032578.4	NP_115967.2:p.(Val1195Met)	NC_000010.10:g.69961675G>A	(Likely) benign	2 labs	7c7f84025a
4:167020575 TLL1 A>G	4	167020575	167020575	A	G	TLL1	c.2803A>G	NM_012464.5	NP_036596.3:p.(Thr935Ala)	NC_000004.11:g.167020575A>G	(Likely) benign	2 labs	7c985f6095
19:39196745 ACTN4 C>T	19	39196745	39196745	C	T	ACTN4	c.546C>T	NM_004924.6	NP_004915.2:p.(Asn182=)	NC_000019.9:g.39196745C>T	(Likely) benign	3 labs	7ca675dae2
15:73616571 HCN4 G>A	15	73616571	73616571	G	A	HCN4	c.2002C>T	NM_005477.3	NP_005468.1:p.(Arg668Trp)	NC_000015.9:g.73616571G>A	VUS	2 labs	7c9d05b2a7
5:127647051 FBN2 C>T	5	127647051	127647051	C	T	FBN2	c.5015G>A	NM_001999.4	NP_001990.2:p.(Ser1672Asn)	NC_000005.9:g.127647051C>T	VUS	2 labs	7cb7a20e72
5:156186245 SGCD G>A	5	156186245	156186245	G	A	SGCD	c.717G>A	NM_000337.5	NP_000328.2:p.(Ala239=)	NC_000005.9:g.156186245G>A	(Likely) benign	2 labs	7ccf154a8a
16:56917770 SLC12A3 C>T	16	56917770	56917770	C	T	SLC12A3	c.1670-191C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56917770C>T	(Likely) pathogenic	2 labs	7cda1769c3
2:178879181 PDE11A G>A	2	178879181	178879181	G	A	PDE11A	c.919C>T	NM_016953.4	NP_058649.3:p.(Arg307Ter)	NC_000002.11:g.178879181G>A	(Likely) benign	2 labs	d24272d7f1
15:90630704 IDH2 C>T	15	90630704	90630704	C	T	IDH2	c.782G>A	NM_002168.4	NP_002159.2:p.(Arg261His)	NC_000015.9:g.90630704C>T	(Likely) benign	2 labs	7d3feab749
17:41267861 BRCA1 C>G	17	41267861	41267861	C	G	BRCA1	c.81-65G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267861C>G	(Likely) benign	2 labs	7d5fed087b
6:51484268 PKHD1 A>G	6	51484268	51484268	A	G	PKHD1	c.11836T>C	NM_138694.4	NP_619639.3:p.(Leu3946=)	NC_000006.11:g.51484268A>G	(Likely) benign	2 labs	7d77e8f0f6
10:75834567 VCL G>A	10	75834567	75834567	G	A	VCL	c.689G>A	NM_014000.3	NP_054706.1:p.(Arg230His)	NC_000010.10:g.75834567G>A	VUS	4 labs	d245dd2514
1:22188328 HSPG2 C>T	1	22188328	22188328	C	T	HSPG2	c.4877G>A	NM_005529.6	NP_005520.4:p.(Arg1626His)	NC_000001.10:g.22188328C>T	(Likely) benign	2 labs	7d86ccab35
14:23892799 MYH7 G>T	14	23892799	23892799	G	T	MYH7	c.3056C>A	NM_000257.4	NP_000248.2:p.(Thr1019Asn)	NC_000014.8:g.23892799G>T	VUS	3 labs	7da9ac0a95
4:38053599 TBC1D1 C>T	4	38053599	38053599	C	T	TBC1D1	c.1990C>T	NM_001253912.2	NP_001240841.1:p.(Pro664Ser)	NC_000004.11:g.38053599C>T	(Likely) benign	2 labs	7d9f7f8e23
21:45712254 AIRE C>T	21	45712254	45712254	C	T	AIRE				NC_000021.8:g.45712254C>T	(Likely) benign	2 labs	7de5d6b791
1:196711067 CFH G>T	1	196711067	196711067	G	T	CFH	c.3019G>T	NM_000186.3	NP_000177.2:p.(Val1007Leu)	NC_000001.10:g.196711067G>T	(Likely) benign	2 labs	7de906ae2f
7:42005670 GLI3 C>T	7	42005670	42005670	C	T	GLI3	c.3001G>A	NM_000168.6	NP_000159.3:p.(Gly1001Ser)	NC_000007.13:g.42005670C>T	(Likely) benign	3 labs	d24a71e071
16:2167552 PKD1 C>T	16	2167552	2167552	C	T	PKD1	c.1323G>A	NM_001009944.2	NP_001009944.2:p.(Gly441=)	NC_000016.9:g.2167552C>T	(Likely) benign	2 labs	7dfeac016b
16:74773995 FA2H G>C	16	74773995	74773995	G	C	FA2H	c.289C>G	NM_024306.5	NP_077282.3:p.(Pro97Ala)	NC_000016.9:g.74773995G>C	(Likely) benign	3 labs	7dfab7a69b
6:75833687 COL12A1 C>T	6	75833687	75833687	C	T	COL12A1	c.6848G>A	NM_004370.6	NP_004361.3:p.(Gly2283Glu)	NC_000006.11:g.75833687C>T	(Likely) benign	2 labs	7e112402ea
1:229568637 ACTA1 C>G	1	229568637	229568637	C	G	ACTA1	c.130-10G>C	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229568637C>G	(Likely) benign	2 labs	7e1df4aade
2:179425213 TTN G>A	2	179425213	179425213	G	A	TTN	c.58826C>T	NM_133432.3	NP_597676.3:p.(Thr19609Ile)	NC_000002.11:g.179425213G>A	VUS	2 labs	7e2529105a
5:127800515 FBN2 A>G	5	127800515	127800515	A	G	FBN2	c.728T>C	NM_001999.4	NP_001990.2:p.(Ile243Thr)	NC_000005.9:g.127800515A>G	(Likely) benign	3 labs	7e271963fc
22:51065404 ARSA A>C	22	51065404	51065404	A	C	ARSA	c.542T>G	NM_000487.6	NP_000478.3:p.(Ile181Ser)	NC_000022.10:g.51065404A>C	(Likely) pathogenic	3 labs	7e46ff76e0
1:3348578 PRDM16 G>A	1	3348578	3348578	G	A	PRDM16	c.3570G>A	NM_022114.4	NP_071397.3:p.(Pro1190=)	NC_000001.10:g.3348578G>A	(Likely) benign	2 labs	7e69bfa4f7
X:135292017 FHL1 TTTTTC>T	X	135292017	135292022	TTTTTC	T	FHL1	c.689-12_689-8del	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292018_135292022del	(Likely) benign	2 labs	d250532d92
1:228412195 OBSCN C>T	1	228412195	228412195	C	T	OBSCN	c.2965C>T	NM_001271223.2	NP_001258152.2:p.(Arg989Cys)	NC_000001.10:g.228412195C>T	(Likely) benign	2 labs	7e7722a391
17:73839254 UNC13D G>A	17	73839254	73839254	G	A	UNC13D	c.247C>T	NM_199242.3	NP_954712.1:p.(Arg83Ter)	NC_000017.10:g.73839254G>A	(Likely) pathogenic	2 labs	7e9cf56896
13:32920844 BRCA2 T>C	13	32920844	32920844	T	C	BRCA2	c.6938-120T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32920844T>C	(Likely) benign	2 labs	7e91237ccc
X:100630121 BTK G>A	X	100630121	100630121	G	A	BTK	c.141+11C>T	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100630121G>A	(Likely) benign	2 labs	7e99961219
1:209806023 LAMB3 G>A	1	209806023	209806023	G	A	LAMB3	c.727C>T	NM_000228.3	NP_000219.2:p.(Gln243Ter)	NC_000001.10:g.209806023G>A	(Likely) pathogenic	2 labs	7e9f5e5924
X:33229389 DMD T>C	X	33229389	33229389	T	C	DMD	c.31+10A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.33229389T>C	(Likely) benign	2 labs	7eb9b65fa8
18:29111232 DSG2 C>T	18	29111232	29111232	C	T	DSG2	c.1280+17C>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29111232C>T	(Likely) benign	2 labs	7ecd0d59b5
9:14851617 FREM1 T>C	9	14851617	14851617	T	C	FREM1	c.829-12A>G	NM_144966.7	NP_659403.4:p.?	NC_000009.11:g.14851617T>C	(Likely) benign	2 labs	7edba04b30
12:114804125 TBX5 C>T	12	114804125	114804125	C	T	TBX5	c.827G>A	NM_000192.3	NP_000183.2:p.(Ser276Asn)	NC_000012.11:g.114804125C>T	(Likely) benign	3 labs	7eee9ae23e
10:68940233 CTNNA3 G>A	10	68940233	68940233	G	A	CTNNA3	c.889C>T	NM_013266.4	NP_037398.2:p.(Arg297Ter)	NC_000010.10:g.68940233G>A	VUS	2 labs	7efe45b898
15:73615401 HCN4 A>C	15	73615401	73615401	A	C	HCN4	c.3033T>G	NM_005477.3	NP_005468.1:p.(Ser1011=)	NC_000015.9:g.73615401A>C	(Likely) benign	2 labs	7f20966722
1:207504467 CD55 G>C	1	207504467	207504467	G	C	CD55	c.679G>C	NM_001114752.3	NP_001108224.1:p.(Ala227Pro)	NC_000001.10:g.207504467G>C	(Likely) benign	2 labs	7f46e1b136
2:131350534 CFC1 G>T	2	131350534	131350534	G	T	CFC1	c.588C>A	NM_032545.3	NP_115934.1:p.(Pro196=)	NC_000002.11:g.131350534G>T	(Likely) benign	2 labs	7f6a38ba3f
16:1250446 CACNA1H G>A	16	1250446	1250446	G	A	CACNA1H	c.994G>A	NM_021098.3	NP_066921.2:p.(Ala332Thr)	NC_000016.9:g.1250446G>A	(Likely) benign	2 labs	7f9992b202
5:131915213 RAD50 G>A	5	131915213	131915213	G	A	RAD50	c.551+19G>A	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131915213G>A	(Likely) benign	2 labs	7f9d3411d3
4:5630442 EVC2 A>G	4	5630442	5630442	A	G	EVC2	c.1730T>C	NM_147127.5	NP_667338.3:p.(Met577Thr)	NC_000004.11:g.5630442A>G	(Likely) benign	2 labs	7fb00f46e0
12:110034330 MVK A>G	12	110034330	110034330	A	G	MVK	c.1139A>G	NM_000431.2	NP_000422.1:p.(His380Arg)	NC_000012.11:g.110034330A>G	(Likely) pathogenic	2 labs	7fd97f0323
11:108175462 ATM G>A	11	108175462	108175462	G	A	ATM	c.5557G>A	NM_001351834.2	NP_001338763.1:p.(Asp1853Asn)	NC_000011.9:g.108175462G>A	(Likely) benign	4 labs	7fdf708d5a
12:6127947 VWF A>T	12	6127947	6127947	A	T	VWF	c.4637T>A	NM_000552.4	NP_000543.2:p.(Val1546Glu)	NC_000012.11:g.6127947A>T	VUS	2 labs	7fe869563e
12:112888150 PTPN11 A>G	12	112888150	112888150	A	G	PTPN11	c.166A>G	NM_002834.3	NP_002825.3:p.(Ile56Val)	NC_000012.11:g.112888150A>G	(Likely) pathogenic	3 labs	7ff5bcfb14
6:51944763 PKHD1 C>T	6	51944763	51944763	C	T	PKHD1	c.325G>A	NM_138694.4	NP_619639.3:p.(Ala109Thr)	NC_000006.11:g.51944763C>T	(Likely) benign	2 labs	80167faa2d
19:38948268 RYR1 C>G	19	38948268	38948268	C	G	RYR1	c.1923C>G	NM_000540.2	NP_000531.2:p.(Thr641=)	NC_000019.9:g.38948268C>G	(Likely) benign	2 labs	8017191f5f
1:114380914 PTPN22 G>T	1	114380914	114380914	G	T	PTPN22	c.1108C>A	NM_015967.7	NP_057051.3:p.(His370Asn)	NC_000001.10:g.114380914G>T	(Likely) benign	2 labs	8032b1a872
16:23641306 PALB2 CAT>C	16	23641306	23641308	CAT	C	PALB2	c.2167_2168del	NM_024675.4	NP_078951.2:p.(Met723ValfsTer21)	NC_000016.9:g.23641307_23641308del	(Likely) pathogenic	2 labs	803c98ae43
16:2154541 PKD1 C>T	16	2154541	2154541	C	T	PKD1	c.8119G>A	NM_001009944.2	NP_001009944.2:p.(Val2707Met)	NC_000016.9:g.2154541C>T	(Likely) benign	2 labs	8040da3750
11:108175400 ATM A>G	11	108175400	108175400	A	G	ATM	c.5497-2A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108175400A>G	(Likely) pathogenic	2 labs	80592ab326
X:32456492 DMD T>C	X	32456492	32456492	T	C	DMD	c.3937A>G	NM_004006.3	NP_003997.2:p.(Met1313Val)	NC_000023.10:g.32456492T>C	VUS	3 labs	8083a627cc
21:34640788 IL10RB A>G	21	34640788	34640788	A	G	IL10RB	c.139A>G	NM_000628.5	NP_000619.3:p.(Lys47Glu)	NC_000021.8:g.34640788A>G	(Likely) benign	2 labs	808446b2f9
5:89990149 ADGRV1 A>G	5	89990149	89990149	A	G	ADGRV1	c.7576A>G	NM_032119.4	NP_115495.3:p.(Ile2526Val)	NC_000005.9:g.89990149A>G	(Likely) benign	2 labs	808449ace2
1:196759282 CFHR3 C>T	1	196759282	196759282	C	T	CFHR3	c.721C>T	NM_021023.5	NP_066303.2:p.(Pro241Ser)	NC_000001.10:g.196759282C>T	(Likely) benign	2 labs	808aa451bb
2:48025764 MSH6 C>G	2	48025764	48025764	C	G	MSH6	c.642C>G	NM_000179.2	NP_000170.1:p.(Tyr214Ter)	NC_000002.11:g.48025764C>G	(Likely) pathogenic	2 labs	808e877abb
19:7293862 INSR A>G	19	7293862	7293862	A	G	INSR	c.41T>C	NM_000208.4	NP_000199.2:p.(Leu14Pro)	NC_000019.9:g.7293862A>G	(Likely) benign	2 labs	80a4293a00
X:44922982 KDM6A C>G	X	44922982	44922982	C	G	KDM6A	c.1843C>G	NM_021140.3	NP_066963.2:p.(Leu615Val)	NC_000023.10:g.44922982C>G	(Likely) benign	2 labs	80bb4f5b9b
13:103528048 ERCC5 C>T	13	103528048	103528048	C	T	ERCC5	c.3356C>T	NM_000123.4	NP_000114.3:p.(Ala1119Val)	NC_000013.10:g.103528048C>T	(Likely) benign	3 labs	80c06cc43e
17:42462967 ITGA2B G>C	17	42462967	42462967	G	C	ITGA2B	c.526C>G	NM_000419.3	NP_000410.2:p.(Pro176Ala)	NC_000017.10:g.42462967G>C	(Likely) pathogenic	2 labs	80c6bc616f
6:32009902 TNXB C>T	6	32009902	32009902	C	T	TNXB	c.12350G>A	NM_019105.8	NP_061978.6:p.(Arg4117His)	NC_000006.11:g.32009902C>T	(Likely) benign	2 labs	80caeae0c1
8:116635872 TRPS1 T>TA	8	116635872	116635873	T	TA	TRPS1	c.-9dup	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116635873dup	(Likely) benign	2 labs	80f473d6d1
1:197091104 ASPM G>A	1	197091104	197091104	G	A	ASPM	c.3811C>T	NM_018136.5	NP_060606.3:p.(Arg1271Ter)	NC_000001.10:g.197091104G>A	(Likely) pathogenic	2 labs	80e8966e1b
11:101454244 TRPC6 G>T	11	101454244	101454244	G	T	TRPC6	c.-10C>A	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101454244G>T	(Likely) benign	2 labs	80eab69aab
22:26423087 MYO18B C>T	22	26423087	26423087	C	T	MYO18B	c.7150C>T	NM_001318245.2	NP_001305174.1:p.(Arg2384Trp)	NC_000022.10:g.26423087C>T	(Likely) benign	2 labs	80f449088c
X:18622162 CDKL5 G>C	X	18622162	18622162	G	C	CDKL5	c.1118G>C	NM_003159.3	NP_003150.1:p.(Gly373Ala)	NC_000023.10:g.18622162G>C	(Likely) benign	2 labs	8101c6cec2
5:45695986 HCN1 G>GCCGCCGCCA	5	45695986	45696010	G	GCCGCCGCCA	HCN1	c.201_209dup	NM_021072.4	NP_066550.2:p.(Gly72_Gly74dup)	NC_000005.9:g.45696002_45696010dup	(Likely) benign	2 labs	81141b2b12
X:153657133 ATP6AP1 T>TGGCGGC	X	153657133	153657154	T	TGGCGGC	ATP6AP1	c.111_116dup	NM_001183.6	NP_001174.2:p.(Ala40_Ala41dup)	NC_000023.10:g.153657149_153657154dup	(Likely) benign	3 labs	811687dc3b
2:227983369 COL4A4 C>G	2	227983369	227983369	C	G	COL4A4	c.481G>C	NM_000092.4	NP_000083.3:p.(Gly161Arg)	NC_000002.11:g.227983369C>G	(Likely) pathogenic	3 labs	8120105527
6:45390486 RUNX2 AGGCGGCGGCGGCGGCTGC>A	6	45390486	45390531	AGGCGGCGGCGGCGGCTGC	A	RUNX2	c.243_260del	NM_001024630.4	NP_001019801.3:p.(Ala84_Ala89del)	NC_000006.11:g.45390514_45390531del	(Likely) benign	2 labs	8122203e66
14:77978652 SPTLC2 G>A	14	77978652	77978652	G	A	SPTLC2	c.1664C>T	NM_004863.4	NP_004854.1:p.(Thr555Met)	NC_000014.8:g.77978652G>A	(Likely) benign	2 labs	8123d2a832
12:88478512 CEP290 T>A	12	88478512	88478512	T	A	CEP290	c.4555A>T	NM_025114.4	NP_079390.3:p.(Ile1519Leu)	NC_000012.11:g.88478512T>A	(Likely) benign	2 labs	8123dfe765
11:118967758 DPAGT1 T>C	11	118967758	118967758	T	C	DPAGT1	c.1177A>G	NM_001382.4	NP_001373.2:p.(Ile393Val)	NC_000011.9:g.118967758T>C	(Likely) benign	2 labs	81507b4998
1:22176643 HSPG2 G>A	1	22176643	22176643	G	A	HSPG2	c.7340C>T	NM_001291860.2	NP_001278789.1:p.(Ser2447Leu)	NC_000001.10:g.22176643G>A	(Likely) benign	2 labs	819679dd7d
X:18638082 CDKL5 A>C	X	18638082	18638082	A	C	CDKL5	c.2372A>C	NM_003159.2	NP_003150.1:p.(Gln791Pro)	NC_000023.10:g.18638082A>C	(Likely) benign	2 labs	81ad37b4f3
18:34174816 FHOD3 G>A	18	34174816	34174816	G	A	FHOD3	c.673G>A	NM_025135.5	NP_079411.2:p.(Ala225Thr)	NC_000018.9:g.34174816G>A	(Likely) benign	2 labs	d277a1b232
22:19748690 TBX1 G>A	22	19748690	19748690	G	A	TBX1	c.297G>A	NM_080647.1	NP_542378.1:p.(Ala99=)	NC_000022.10:g.19748690G>A	(Likely) benign	4 labs	81bbc76616
10:69935072 MYPN T>A	10	69935072	69935072	T	A	MYPN	c.2565-8T>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69935072T>A	(Likely) benign	2 labs	81e0940057
13:52532497 ATP7B T>C	13	52532497	52532497	T	C	ATP7B	c.2305A>G	NM_000053.4	NP_000044.2:p.(Met769Val)	NC_000013.10:g.52532497T>C	(Likely) pathogenic	2 labs	81f72072c9
18:55373767 ATP8B1 G>C	18	55373767	55373767	G	C	ATP8B1	c.234C>G	NM_005603.6	NP_005594.2:p.(His78Gln)	NC_000018.9:g.55373767G>C	(Likely) benign	2 labs	81fd491f93
16:88788996 PIEZO1 C>T	16	88788996	88788996	C	T	PIEZO1	c.4770G>A	NM_001142864.4	NP_001136336.2:p.(Val1590=)	NC_000016.9:g.88788996C>T	(Likely) benign	2 labs	81f9683ed6
1:55505552 PCSK9 A>ACTG	1	55505552	55505575	A	ACTG	PCSK9	c.63_65dup	NM_174936.4	NP_777596.2:p.(Leu23dup)	NC_000001.10:g.55505573_55505575dup	(Likely) benign	3 labs	820ebcdb00
10:88441547 LDB3 G>A	10	88441547	88441547	G	A	LDB3	c.676G>A	NM_001171610.2	NP_001165081.1:p.(Gly226Arg)	NC_000010.10:g.88441547G>A	VUS	2 labs	8245607e65
4:79400846 FRAS1 C>T	4	79400846	79400846	C	T	FRAS1	c.8417C>T	NM_025074.7	NP_079350.5:p.(Thr2806Met)	NC_000004.11:g.79400846C>T	(Likely) benign	2 labs	822cf4ad39
X:107845128 COL4A5 T>C	X	107845128	107845128	T	C	COL4A5	c.2055T>C	NM_000495.5	NP_000486.1:p.(Leu685=)	NC_000023.10:g.107845128T>C	(Likely) benign	2 labs	822d535b57
2:73680118 ALMS1 A>G	2	73680118	73680118	A	G	ALMS1	c.6467A>G	NM_015120.4	NP_055935.4:p.(Asp2156Gly)	NC_000002.11:g.73680118A>G	(Likely) benign	2 labs	8242aee2e7
20:43034886 HNF4A A>AT	20	43034886	43034889	A	AT	HNF4A	c.215+17dup	NM_001287182.2	NP_001274111.1:p.?	NC_000020.10:g.43034889dup	(Likely) benign	2 labs	8261e77b4e
2:179578108 TTN T>TACAAAACAAAACAAA	2	179578108	179578139	T	TACAAAACAAAACAAA	TTN	c.26762-24_26762-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578125_179578139dup	(Likely) benign	2 labs	82290be4a4
5:131722716 SLC22A5 G>C	5	131722716	131722716	G	C	SLC22A5	c.825-1G>C	NM_003060.4	NP_003051.1:p.?	NC_000005.9:g.131722716G>C	(Likely) pathogenic	2 labs	8267c76fec
20:8770822 PLCB1 C>T	20	8770822	8770822	C	T	PLCB1	c.3337C>T	NM_182734.3	NP_877398.1:p.(Leu1113=)	NC_000020.10:g.8770822C>T	(Likely) benign	2 labs	82728910de
2:167060571 SCN9A G>T	2	167060571	167060571	G	T	SCN9A	c.4635C>A	NM_002977.3	NP_002968.1:p.(Ile1545=)	NC_000002.11:g.167060571G>T	(Likely) benign	2 labs	828e2541fc
16:1261300 CACNA1H T>C	16	1261300	1261300	T	C	CACNA1H	c.4350+6T>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1261300T>C	(Likely) benign	2 labs	82a3933b49
3:182810335 MCCC1 T>C	3	182810335	182810335	T	C	MCCC1	c.137-2A>G	NM_020166.5	NP_064551.3:p.?	NC_000003.11:g.182810335T>C	(Likely) pathogenic	2 labs	82ba8a2907
18:32462038 DTNA C>T	18	32462038	32462038	C	T	DTNA	c.2087C>T	NM_001390.4	NP_001381.2:p.(Thr696Met)	NC_000018.9:g.32462038C>T	VUS	2 labs	d27d555b01
18:32395859 DTNA G>T	18	32395859	32395859	G	T	DTNA	c.604-14G>T	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32395859G>T	(Likely) benign	3 labs	82d3cd0cd2
4:15482904 CC2D2A G>A	4	15482904	15482904	G	A	CC2D2A	c.*68G>A	NM_020785.2	NP_065836.2:p.?	NC_000004.11:g.15482904G>A	(Likely) benign	2 labs	82c06f2c9d
6:56489429 DST G>T	6	56489429	56489429	G	T	DST	c.4732-3C>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56489429G>T	(Likely) benign	3 labs	82c5e57d84
15:42684875 CAPN3 C>T	15	42684875	42684875	C	T	CAPN3	c.984C>T	NM_000070.3	NP_000061.1:p.(Cys328=)	NC_000015.9:g.42684875C>T	(Likely) benign	2 labs	831bd07bea
7:36445990 ANLN C>T	7	36445990	36445990	C	T	ANLN	c.688C>T	NM_018685.5	NP_061155.2:p.(Pro230Ser)	NC_000007.13:g.36445990C>T	VUS	2 labs	832e6756b0
7:117199683 CFTR G>T	7	117199683	117199683	G	T	CFTR	c.1558G>T	NM_000492.4	NP_000483.3:p.(Val520Phe)	NC_000007.13:g.117199683G>T	(Likely) pathogenic	2 labs	d284116307
13:77574606 CLN5 C>A	13	77574606	77574606	C	A	CLN5	c.579C>A	NM_006493.4	NP_006484.2:p.(Asn193Lys)	NC_000013.10:g.77574606C>A	(Likely) benign	3 labs	835f879d6b
12:2795023 CACNA1C C>T	12	2795023	2795023	C	T	CACNA1C	c.5680+15C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2795023C>T	(Likely) benign	3 labs	d289680b8c
8:145737514 RECQL4 G>A	8	145737514	145737514	G	A	RECQL4	c.3236+13C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737514G>A	(Likely) benign	2 labs	d28a0ef0d0
4:120085361 MYOZ2 C>T	4	120085361	120085361	C	T	MYOZ2	c.377-5C>T	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120085361C>T	(Likely) benign	2 labs	839cafa6a6
11:62396329 GANAB G>A	11	62396329	62396329	G	A	GANAB	c.2158C>T	NM_198335.4	NP_938149.2:p.(Arg720Ter)	NC_000011.9:g.62396329G>A	(Likely) pathogenic	2 labs	83bc4059f0
8:145640411 SLC39A4 A>G	8	145640411	145640411	A	G	SLC39A4	c.676=	NM_017767.3	NP_060237.3:p.(Arg226=)	NC_000008.10:g.145640411A>G	(Likely) benign	2 labs	83e2cdb2a5
16:81902824 PLCG2 G>C	16	81902824	81902824	G	C	PLCG2	c.485G>C	NM_002661.3	NP_002652.2:p.(Ser162Thr)	NC_000016.9:g.81902824G>C	(Likely) benign	2 labs	83eb33099a
3:184069794 CLCN2 G>GCC	3	184069794	184069797	G	GCC	CLCN2	c.2415+5_2415+6dup	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184069796_184069797dup	(Likely) benign	2 labs	83f3cd11b1
2:168098296 XIRP2 C>T	2	168098296	168098296	C	T	XIRP2	c.1052C>T	NM_152381.6	NP_689594.4:p.(Thr351Ile)	NC_000002.11:g.168098296C>T	(Likely) benign	2 labs	83f93a246e
2:71783110 DYSF C>T	2	71783110	71783110	C	T	DYSF	c.2122C>T	NM_001130981.2	NP_001124453.1:p.(Gln708Ter)	NC_000002.11:g.71783110C>T	(Likely) pathogenic	2 labs	83fa0d9561
20:43249649 ADA A>C	20	43249649	43249649	A	C	ADA	c.975+10T>G	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43249649A>C	(Likely) benign	2 labs	841f01d0f1
3:97487043 ARL6 C>T	3	97487043	97487043	C	T	ARL6	c.92C>T	NM_032146.5	NP_115522.1:p.(Thr31Met)	NC_000003.11:g.97487043C>T	(Likely) pathogenic	2 labs	845660b3d9
1:160324042 NCSTN C>T	1	160324042	160324042	C	T	NCSTN	c.1314C>T	NM_015331.3	NP_056146.1:p.(Gly438=)	NC_000001.10:g.160324042C>T	(Likely) benign	2 labs	846c0bf67d
4:107183260 TBCK G>A	4	107183260	107183260	G	A	TBCK	c.376C>T	NM_001163435.3	NP_001156907.2:p.(Arg126Ter)	NC_000004.11:g.107183260G>A	(Likely) pathogenic	2 labs	84b1b0ae3a
12:49444985 KMT2D T>G	12	49444985	49444985	T	G	KMT2D	c.2481A>C	NM_003482.4	NP_003473.3:p.(Gln827His)	NC_000012.11:g.49444985T>G	VUS	2 labs	d292e8a4e8
X:56591624 UBQLN2 C>A	X	56591624	56591624	C	A	UBQLN2	c.1318C>A	NM_013444.4	NP_038472.2:p.(Pro440Thr)	NC_000023.10:g.56591624C>A	VUS	2 labs	d29658b40f
6:51612922 PKHD1 G>A	6	51612922	51612922	G	A	PKHD1	c.9492C>T	NM_138694.4	NP_619639.3:p.(Ser3164=)	NC_000006.11:g.51612922G>A	(Likely) benign	2 labs	84c769decb
1:205130450 DSTYK A>T	1	205130450	205130450	A	T	DSTYK	c.1884T>A	NM_015375.3	NP_056190.1:p.(Asp628Glu)	NC_000001.10:g.205130450A>T	(Likely) benign	2 labs	84d638aa67
6:157469823 ARID1B G>A	6	157469823	157469823	G	A	ARID1B	c.2866G>A	NM_001371656.1	NP_001358585.1:p.(Gly956Ser)	NC_000006.11:g.157469823G>A	(Likely) benign	2 labs	84d9b2c998
16:56933519 SLC12A3 G>A	16	56933519	56933519	G	A	SLC12A3	c.2738G>A	NM_000339.3	NP_000330.3:p.(Arg913Gln)	NC_000016.9:g.56933519G>A	(Likely) benign	2 labs	85045a9801
19:38974116 RYR1 C>T	19	38974116	38974116	C	T	RYR1	c.4894C>T	NM_000540.2	NP_000531.2:p.(Pro1632Ser)	NC_000019.9:g.38974116C>T	(Likely) benign	3 labs	851ca33349
20:61987320 CHRNA4 G>A	20	61987320	61987320	G	A	CHRNA4	c.383+7C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61987320G>A	(Likely) benign	2 labs	8539f926f6
19:6694647 C3 TGCA>T	19	6694647	6694654	TGCA	T	C3	c.2951-5_2951-3del	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6694652_6694654del	(Likely) benign	2 labs	857142a1e1
2:220435375 OBSL1 G>A	2	220435375	220435375	G	A	OBSL1	c.580C>T	NM_015311.3	NP_056126.1:p.(Leu194=)	NC_000002.11:g.220435375G>A	(Likely) benign	2 labs	d29ca751c3
8:133192449 KCNQ3 A>G	8	133192449	133192449	A	G	KCNQ3	c.732T>C	NM_004519.4	NP_004510.1:p.(Gly244=)	NC_000008.10:g.133192449A>G	(Likely) benign	2 labs	857c7a7e00
16:2160117 PKD1 G>A	16	2160117	2160117	G	A	PKD1	c.5051C>T	NM_001009944.2	NP_001009944.2:p.(Ser1684Leu)	NC_000016.9:g.2160117G>A	(Likely) benign	2 labs	85815c0965
17:41219765 BRCA1 C>T	17	41219765	41219765	C	T	BRCA1	c.4987-53G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219765C>T	(Likely) benign	2 labs	858a1c6aff
12:6182828 VWF A>T	12	6182828	6182828	A	T	VWF	c.954T>A	NM_000552.4	NP_000543.2:p.(Asn318Lys)	NC_000012.11:g.6182828A>T	(Likely) benign	2 labs	85a559579f
8:11566430 GATA4 C>T	8	11566430	11566430	C	T	GATA4	c.609C>T	NM_002052.5	NP_002043.2:p.(Pro203=)	NC_000008.10:g.11566430C>T	(Likely) benign	3 labs	85b55aaaf5
2:227661003 IRS1 C>G	2	227661003	227661003	C	G	IRS1	c.2452G>C	NM_005544.3	NP_005535.1:p.(Gly818Arg)	NC_000002.11:g.227661003C>G	(Likely) benign	3 labs	85ac7705d0
12:49434409 KMT2D G>A	12	49434409	49434409	G	A	KMT2D	c.7144C>T	NM_003482.3	NP_003473.3:p.(Pro2382Ser)	NC_000012.11:g.49434409G>A	(Likely) benign	3 labs	85c0cbce9c
4:79432455 FRAS1 A>C	4	79432455	79432455	A	C	FRAS1	c.9808A>C	NM_025074.7	NP_079350.5:p.(Arg3270=)	NC_000004.11:g.79432455A>C	(Likely) benign	2 labs	85c9ca84fa
X:32503075 DMD A>C	X	32503075	32503075	A	C	DMD	c.2764T>G	NM_004006.2	NP_003997.1:p.(Phe922Val)	NC_000023.10:g.32503075A>C	(Likely) benign	2 labs	85d2f5d95e
15:91326099 BLM C>T	15	91326099	91326099	C	T	BLM	c.2603C>T	NM_000057.4	NP_000048.1:p.(Pro868Leu)	NC_000015.9:g.91326099C>T	(Likely) benign	3 labs	85d6dcc2de
16:2156249 PKD1 G>A	16	2156249	2156249	G	A	PKD1	c.7546C>T	NM_001009944.2	NP_001009944.2:p.(Arg2516Cys)	NC_000016.9:g.2156249G>A	(Likely) pathogenic	3 labs	85e0ef1da7
18:34359393 FHOD3 C>T	18	34359393	34359393	C	T	FHOD3	c.4787-18C>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34359393C>T	(Likely) benign	2 labs	85f0570c44
4:79391256 FRAS1 T>C	4	79391256	79391256	T	C	FRAS1	c.7371+11T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391256T>C	(Likely) benign	2 labs	d2a8e0d275
7:91732083 AKAP9 G>A	7	91732083	91732083	G	A	AKAP9	c.11273G>A	NM_005751.5	NP_005742.4:p.(Arg3758His)	NC_000007.13:g.91732083G>A	(Likely) benign	3 labs	8603668140
18:77464898 CTDP1 G>A	18	77464898	77464898	G	A	CTDP1	c.753G>A	NM_004715.5	NP_004706.3:p.(Leu251=)	NC_000018.9:g.77464898G>A	(Likely) benign	2 labs	8618ea4f28
12:103246606 PAH A>C	12	103246606	103246606	A	C	PAH	c.829T>G	NM_000277.3	NP_000268.1:p.(Tyr277Asp)	NC_000012.11:g.103246606A>C	(Likely) pathogenic	2 labs	862ccac387
10:81921741 ANXA11 G>T	10	81921741	81921741	G	T	ANXA11	c.1130C>A	NM_001157.3	NP_001148.1:p.(Ser377Tyr)	NC_000010.10:g.81921741G>T	VUS	2 labs	8638345454
5:137213271 MYOT G>A	5	137213271	137213271	G	A	MYOT	c.594G>A	NM_006790.2	NP_006781.1:p.(Val198=)	NC_000005.9:g.137213271G>A	(Likely) benign	2 labs	864d24d9d6
X:103042882 PLP1 T>C	X	103042882	103042882	T	C	PLP1	c.609T>C	NM_001128834.3	NP_001122306.1:p.(Asp203=)	NC_000023.10:g.103042882T>C	(Likely) benign	2 labs	865151f614
2:179474874 TTN C>A	2	179474874	179474874	C	A	TTN	c.51379G>T	NM_001267550.2	NP_001254479.2:p.(Val17127Phe)	NC_000002.11:g.179474874C>A	VUS	2 labs	865d5d2c12
2:220146459 DNAJB2 C>T	2	220146459	220146459	C	T	DNAJB2	c.195C>T	NM_006736.6	NP_006727.2:p.(Tyr65=)	NC_000002.11:g.220146459C>T	(Likely) benign	2 labs	8676e011fc
19:55665462 TNNI3 C>T	19	55665462	55665462	C	T	TNNI3	c.485G>A	NM_000363.5	NP_000354.4:p.(Arg162Gln)	NC_000019.9:g.55665462C>T	(Likely) pathogenic	3 labs	d2b35253ab
11:89018126 TYR A>G	11	89018126	89018126	A	G	TYR	c.1366+4A>G	NM_000372.5	NP_000363.1:p.?	NC_000011.9:g.89018126A>G	VUS	4 labs	d2b6abed14
X:100614313 BTK G>A	X	100614313	100614313	G	A	BTK	c.862C>T	NM_000061.2	NP_000052.1:p.(Arg288Trp)	NC_000023.10:g.100614313G>A	(Likely) pathogenic	2 labs	868c842b37
2:227886882 COL4A4 C>CG	2	227886882	227886884	C	CG	COL4A4	c.4097dup	NM_000092.4	NP_000083.3:p.(Pro1368AlafsTer7)	NC_000002.11:g.227886884dup	(Likely) pathogenic	2 labs	86aea1ddba
17:10535839 MYH3 G>A	17	10535839	10535839	G	A	MYH3	c.4910C>T	NM_002470.4	NP_002461.2:p.(Ala1637Val)	NC_000017.10:g.10535839G>A	(Likely) benign	2 labs	86d96f1021
6:31915240 CFB C>T	6	31915240	31915240	C	T	CFB	c.600C>T	NM_001710.5	NP_001701.2:p.(Ser200=)	NC_000006.11:g.31915240C>T	(Likely) benign	2 labs	86f0b544df
1:98058878 DPYD C>T	1	98058878	98058878	C	T	DPYD	c.1024G>A	NM_000110.4	NP_000101.2:p.(Asp342Asn)	NC_000001.10:g.98058878C>T	VUS	2 labs	d2c386dcd0
3:14175261 TMEM43 A>G	3	14175261	14175261	A	G	TMEM43	c.535A>G	NM_024334.2	NP_077310.1:p.(Met179Val)	NC_000003.11:g.14175261A>G	(Likely) benign	2 labs	8714827770
14:23902875 MYH7 G>A	14	23902875	23902875	G	A	MYH7	c.67C>T	NM_000257.4	NP_000248.2:p.(Arg23Trp)	NC_000014.8:g.23902875G>A	VUS	3 labs	d2c882d953
16:1607935 IFT140 C>A	16	1607935	1607935	C	A	IFT140	c.2399+1G>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1607935C>A	(Likely) pathogenic	3 labs	873ab5c3ad
20:44519224 NEURL2 C>CT	20	44519224	44519225	C	CT	NEURL2	c.406dup	NM_001278535.1	NP_001265464.1:p.(Ser136LysfsTer15)	NC_000020.10:g.44519225dup	(Likely) benign	2 labs	87399932bf
2:211456639 CPS1 C>T	2	211456639	211456639	C	T	CPS1	c.1032C>T	NM_001875.5	NP_001866.2:p.(Thr344=)	NC_000002.11:g.211456639C>T	(Likely) benign	4 labs	d2c90e26e4
14:51088629 ATL1 T>C	14	51088629	51088629	T	C	ATL1	c.1047+12T>C	NM_015915.4	NP_056999.2:p.?	NC_000014.8:g.51088629T>C	(Likely) benign	2 labs	874044658c
2:110922668 NPHP1 G>A	2	110922668	110922668	G	A	NPHP1	c.689C>T	NM_000272.5	NP_000263.2:p.(Ala230Val)	NC_000002.11:g.110922668G>A	(Likely) benign	2 labs	87616ce8f8
1:228476439 OBSCN C>T	1	228476439	228476439	C	T	OBSCN	c.11476C>T	NM_001271223.2	NP_001258152.2:p.(Arg3826Cys)	NC_000001.10:g.228476439C>T	(Likely) benign	2 labs	875d4d0ce7
3:37061893 MLH1 T>C	3	37061893	37061893	T	C	MLH1	c.977T>C	NM_000249.4	NP_000240.1:p.(Val326Ala)	NC_000003.11:g.37061893T>C	(Likely) benign	4 labs	8749f5150d
1:76198409 ACADM T>C	1	76198409	76198409	T	C	ACADM	c.199T>C	NM_000016.6	NP_000007.1:p.(Tyr67His)	NC_000001.10:g.76198409T>C	(Likely) pathogenic	2 labs	876c61c3cf
22:51159995 SHANK3 C>T	22	51159995	51159995	C	T	SHANK3	c.3959C>T	NM_001372044.1	NP_001358973.1:p.(Ala1320Val)	NC_000022.10:g.51159995C>T	(Likely) benign	2 labs	877c4e6fb8
17:56787202 RAD51C T>C	17	56787202	56787202	T	C	RAD51C	c.706-18T>C	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56787202T>C	(Likely) benign	4 labs	877e527e2b
3:64672534 ADAMTS9 T>C	3	64672534	64672534	T	C	ADAMTS9	c.226A>G	NM_182920.2	NP_891550.1:p.(Ile76Val)	NC_000003.11:g.64672534T>C	(Likely) benign	2 labs	8785369df6
12:66786091 GRIP1 G>C	12	66786091	66786091	G	C	GRIP1	c.2305C>G	NM_021150.4	NP_066973.2:p.(Gln769Glu)	NC_000012.11:g.66786091G>C	(Likely) benign	2 labs	87a4dd14b5
4:153244137 FBXW7 G>T	4	153244137	153244137	G	T	FBXW7	c.2020C>A	NM_033632.3	NP_361014.1:p.(Arg674=)	NC_000004.11:g.153244137G>T	(Likely) benign	2 labs	87b2f87903
2:179614998 TTN T>C	2	179614998	179614998	T	C	TTN	c.12129A>G	NM_133379.5	NP_596870.2:p.(Ala4043=)	NC_000002.11:g.179614998T>C	(Likely) benign	2 labs	d2dc3897b8
11:108143182 ATM C>T	11	108143182	108143182	C	T	ATM	c.3078-77C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108143182C>T	(Likely) benign	2 labs	87a8a1336d
15:35085453 ACTC1 A>G	15	35085453	35085453	A	G	ACTC1	c.447T>C	NM_005159.4	NP_005150.1:p.(Arg149=)	NC_000015.9:g.35085453A>G	(Likely) benign	3 labs	87ae040a25
2:228120751 COL4A3 G>A	2	228120751	228120751	G	A	COL4A3	c.898G>A	NM_000091.4	NP_000082.2:p.(Gly300Arg)	NC_000002.11:g.228120751G>A	(Likely) pathogenic	2 labs	87b3249543
5:95735899 PCSK1 G>A	5	95735899	95735899	G	A	PCSK1	c.1197-9C>T	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95735899G>A	(Likely) benign	2 labs	87a76ea3a7
20:408116 RBCK1 G>A	20	408116	408116	G	A	RBCK1	c.1189G>A	NM_031229.4	NP_112506.2:p.(Val397Ile)	NC_000020.10:g.408116G>A	(Likely) benign	2 labs	87bfbf23a3
12:6076640 VWF A>G	12	6076640	6076640	A	G	VWF	c.7887+12T>C	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6076640A>G	(Likely) benign	2 labs	87c98ece61
7:128496576 FLNC C>T	7	128496576	128496576	C	T	FLNC	c.7256C>T	NM_001458.5	NP_001449.3:p.(Thr2419Met)	NC_000007.13:g.128496576C>T	VUS	2 labs	d2e1ee651a
16:3297136 MEFV C>T	16	3297136	3297136	C	T	MEFV	c.1467G>A	NM_000243.3	NP_000234.1:p.(Gln489=)	NC_000016.9:g.3297136C>T	(Likely) benign	3 labs	87e31664aa
6:15523376 DTNBP1 G>A	6	15523376	15523376	G	A	DTNBP1	c.886C>T	NM_032122.4	NP_115498.2:p.(Pro296Ser)	NC_000006.11:g.15523376G>A	(Likely) benign	2 labs	87e27ded4c
9:124073097 GSN G>A	9	124073097	124073097	G	A	GSN	c.640G>A	NM_000177.5	NP_000168.1:p.(Asp214Asn)	NC_000009.11:g.124073097G>A	(Likely) pathogenic	2 labs	880112f78e
14:21871328 CHD8 G>A	14	21871328	21871328	G	A	CHD8	c.3562C>T	NM_001170629.2	NP_001164100.1:p.(Arg1188Ter)	NC_000014.8:g.21871328G>A	(Likely) pathogenic	2 labs	87facd2ba1
22:38516908 PLA2G6 T>C	22	38516908	38516908	T	C	PLA2G6	c.1066A>G	NM_001349867.2	NP_001336796.1:p.(Met356Val)	NC_000022.10:g.38516908T>C	VUS	2 labs	d2e2eabc21
2:152511874 NEB A>C	2	152511874	152511874	A	C	NEB	c.6717T>G	NM_001164507.1	NP_001157979.1:p.(Ile2239Met)	NC_000002.11:g.152511874A>C	(Likely) benign	2 labs	87fd445851
11:64573710 MEN1 A>T	11	64573710	64573710	A	T	MEN1	c.1058T>A	NM_130804.2	NP_570716.1:p.(Ile353Asn)	NC_000011.9:g.64573710A>T	(Likely) pathogenic	2 labs	8808ddfece
17:78079509 GAA T>G	17	78079509	78079509	T	G	GAA	c.547-39T>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78079509T>G	(Likely) benign	3 labs	88060fb1b4
13:32905219 BRCA2 A>AT	13	32905219	32905231	A	AT	BRCA2	c.793+64dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905231dup	(Likely) benign	2 labs	882af77317
12:115112554 TBX3 A>T	12	115112554	115112554	A	T	TBX3	c.1186T>A	NM_016569.4	NP_057653.3:p.(Ser396Thr)	NC_000012.11:g.115112554A>T	(Likely) benign	3 labs	8810522dc5
2:166201225 SCN2A A>G	2	166201225	166201225	A	G	SCN2A	c.2723A>G	NM_021007.3	NP_066287.2:p.(Lys908Arg)	NC_000002.11:g.166201225A>G	(Likely) benign	3 labs	8855e6d2c8
13:110817206 COL4A1 C>T	13	110817206	110817206	C	T	COL4A1	c.4150+3G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110817206C>T	(Likely) benign	2 labs	884ca1f6e2
13:32914183 BRCA2 GGAT>G	13	32914183	32914189	GGAT	G	BRCA2	c.5695_5697del	NM_000059.4	NP_000050.3:p.(Asp1899del)	NC_000013.10:g.32914187_32914189del	VUS	2 labs	8854eacca6
4:5682993 EVC2 G>A	4	5682993	5682993	G	A	EVC2	c.864C>T	NM_147127.5	NP_667338.3:p.(Asn288=)	NC_000004.11:g.5682993G>A	(Likely) benign	2 labs	886998a1fb
2:21233999 APOB T>C	2	21233999	21233999	T	C	APOB	c.5741A>G	NM_000384.3	NP_000375.3:p.(Asn1914Ser)	NC_000002.11:g.21233999T>C	(Likely) benign	2 labs	d2e395f2e4
18:6947245 LAMA1 G>A	18	6947245	6947245	G	A	LAMA1	c.8761C>T	NM_005559.4	NP_005550.2:p.(Arg2921Ter)	NC_000018.9:g.6947245G>A	(Likely) pathogenic	2 labs	8872f7853b
19:13323482 CACNA1A C>T	19	13323482	13323482	C	T	CACNA1A	c.6031G>A	NM_023035.3	NP_075461.2:p.(Ala2011Thr)	NC_000019.9:g.13323482C>T	(Likely) benign	2 labs	88764d9725
X:107909790 COL4A5 T>G	X	107909790	107909790	T	G	COL4A5	c.3519T>G	NM_000495.5	NP_000486.1:p.(Gly1173=)	NC_000023.10:g.107909790T>G	(Likely) benign	2 labs	88778f578e
19:42482076 ATP1A3 T>A	19	42482076	42482076	T	A	ATP1A3	c.1982+12A>T	NM_001256214.2	NP_001243143.1:p.?	NC_000019.9:g.42482076T>A	(Likely) benign	5 labs	88acbe0a1c
9:135206706 SETX C>T	9	135206706	135206706	C	T	SETX	c.968G>A	NM_015046.7	NP_055861.3:p.(Ser323Asn)	NC_000009.11:g.135206706C>T	VUS	2 labs	88cebc079b
11:111782282 CRYAB C>G	11	111782282	111782282	C	G	CRYAB	c.167G>C	NM_001885.3	NP_001876.1:p.(Arg56Pro)	NC_000011.9:g.111782282C>G	VUS	2 labs	88d5a711e9
19:38976266 RYR1 C>T	19	38976266	38976266	C	T	RYR1	c.4971C>T	NM_000540.2	NP_000531.2:p.(Asp1657=)	NC_000019.9:g.38976266C>T	(Likely) benign	2 labs	88da3d3529
17:56283880 MKS1 C>T	17	56283880	56283880	C	T	MKS1	c.1436G>A	NM_017777.4	NP_060247.2:p.(Arg479His)	NC_000017.10:g.56283880C>T	(Likely) benign	2 labs	88d878f6a7
X:100658799 GLA A>G	X	100658799	100658799	A	G	GLA	c.369T>C	NM_000169.3	NP_000160.1:p.(Tyr123=)	NC_000023.10:g.100658799A>G	(Likely) benign	2 labs	88ebafc0a6
5:1278927 TERT C>T	5	1278927	1278927	C	T	TERT	c.2131-16G>A	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1278927C>T	(Likely) benign	2 labs	88e70dbe03
12:12871199 CDKN1B G>A	12	12871199	12871199	G	A	CDKN1B	c.426G>A	NM_004064.5	NP_004055.1:p.(Thr142=)	NC_000012.11:g.12871199G>A	(Likely) benign	4 labs	88f2446ed1
20:62073781 KCNQ2 G>A	20	62073781	62073781	G	A	KCNQ2	c.794C>T	NM_172107.4	NP_742105.1:p.(Ala265Val)	NC_000020.10:g.62073781G>A	(Likely) pathogenic	2 labs	891cc76b58
13:48563008 SUCLA2 G>A	13	48563008	48563008	G	A	SUCLA2	c.371+9C>T	NM_003850.3	NP_003841.1:p.?	NC_000013.10:g.48563008G>A	(Likely) benign	2 labs	d2e4c7fb26
X:154490187 RAB39B T>C	X	154490187	154490187	T	C	RAB39B	c.543A>G	NM_171998.4	NP_741995.1:p.(Thr181=)	NC_000023.10:g.154490187T>C	(Likely) benign	2 labs	893fb0e51d
22:45685002 UPK3A A>G	22	45685002	45685002	A	G	UPK3A	c.549A>G	NM_006953.4	NP_008884.1:p.(Ser183=)	NC_000022.10:g.45685002A>G	(Likely) benign	2 labs	894f23a0da
4:114153349 ANK2 A>G	4	114153349	114153349	A	G	ANK2	c.468A>G	NM_001386174.1	NP_001373103.1:p.(Gln156=)	NC_000004.11:g.114153349A>G	(Likely) benign	3 labs	8948142af9
1:236918307 ACTN2 C>T	1	236918307	236918307	C	T	ACTN2	c.1351-12C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236918307C>T	(Likely) benign	4 labs	895621ce97
X:32456489 DMD G>A	X	32456489	32456489	G	A	DMD	c.3940C>T	NM_004006.3	NP_003997.2:p.(Arg1314Ter)	NC_000023.10:g.32456489G>A	(Likely) pathogenic	2 labs	895e6580ea
4:52895022 SGCB G>A	4	52895022	52895022	G	A	SGCB	c.495C>T	NM_000232.4	NP_000223.1:p.(Asp165=)	NC_000004.11:g.52895022G>A	(Likely) benign	3 labs	895fff2a40
19:13320227 CACNA1A C>T	19	13320227	13320227	C	T	CACNA1A	c.6425G>A	NM_001127222.2	NP_001120694.1:p.(Arg2142Gln)	NC_000019.9:g.13320227C>T	(Likely) benign	2 labs	897bc49e33
18:60036531 TNFRSF11A G>A	18	60036531	60036531	G	A	TNFRSF11A				NC_000018.9:g.60036531G>A	(Likely) benign	2 labs	8981424fd2
1:209964141 IRF6 A>G	1	209964141	209964141	A	G	IRF6	c.759T>C	NM_006147.4	NP_006138.1:p.(Tyr253=)	NC_000001.10:g.209964141A>G	(Likely) benign	2 labs	8986774f26
4:79295418 FRAS1 C>CTG	4	79295418	79295420	C	CTG	FRAS1	c.3151+14_3151+15dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79295419_79295420dup	(Likely) benign	2 labs	898e3f9641
22:51009487 CPT1B T>C	22	51009487	51009487	T	C	CPT1B	c.1876-15A>G	NM_152245.3	NP_689451.1:p.?	NC_000022.10:g.51009487T>C	(Likely) benign	2 labs	8987f61ae0
15:93545552 CHD2 T>C	15	93545552	93545552	T	C	CHD2	c.4278+5T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545552T>C	(Likely) benign	2 labs	89b3da7261
5:89920969 ADGRV1 C>A	5	89920969	89920969	C	A	ADGRV1	c.581C>A	NM_032119.4	NP_115495.3:p.(Pro194His)	NC_000005.9:g.89920969C>A	(Likely) benign	2 labs	89a2ac6784
6:135715984 AHI1 C>T	6	135715984	135715984	C	T	AHI1	c.3039G>A	NM_001134831.2	NP_001128303.1:p.(Gln1013=)	NC_000006.11:g.135715984C>T	(Likely) benign	2 labs	89a22b609c
6:157100023 ARID1B CGGA>C	6	157100023	157100048	CGGA	C	ARID1B	c.1232_1234del	NM_001371656.1	NP_001358585.1:p.(Gly411del)	NC_000006.11:g.157100046_157100048del	(Likely) benign	2 labs	d2e7affd0a
19:55665450 TNNI3 G>A	19	55665450	55665450	G	A	TNNI3	c.497C>T	NM_000363.5	NP_000354.4:p.(Ser166Phe)	NC_000019.9:g.55665450G>A	(Likely) pathogenic	5 labs	d2ead6a765
16:23641219 PALB2 T>C	16	23641219	23641219	T	C	PALB2	c.2256A>G	NM_024675.4	NP_078951.2:p.(Gly752=)	NC_000016.9:g.23641219T>C	(Likely) benign	5 labs	89c6116493
15:91561061 VPS33B G>T	15	91561061	91561061	G	T	VPS33B	c.151C>A	NM_018668.5	NP_061138.3:p.(Arg51=)	NC_000015.9:g.91561061G>T	(Likely) benign	3 labs	89e0944eee
10:95791613 PLCE1 T>C	10	95791613	95791613	T	C	PLCE1	c.810T>C	NM_016341.4	NP_057425.3:p.(Cys270=)	NC_000010.10:g.95791613T>C	(Likely) benign	3 labs	89e5316381
1:204129685 REN T>C	1	204129685	204129685	T	C	REN	c.492+3A>G	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204129685T>C	(Likely) benign	2 labs	8a1aa42be4
2:228149062 COL4A3 G>T	2	228149062	228149062	G	T	COL4A3	c.2881+1G>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228149062G>T	(Likely) pathogenic	2 labs	8a3177458f
7:55229255 EGFR G>A	7	55229255	55229255	G	A	EGFR	c.1562G>A	NM_005228.5	NP_005219.2:p.(Arg521Lys)	NC_000007.13:g.55229255G>A	(Likely) benign	2 labs	8a48588e72
9:37782111 EXOSC3 C>T	9	37782111	37782111	C	T	EXOSC3	c.498G>A	NM_016042.4	NP_057126.2:p.(Gln166=)	NC_000009.11:g.37782111C>T	(Likely) benign	2 labs	d2f21b2448
2:170349362 BBS5 TTTTG>T	2	170349362	170349372	TTTTG	T	BBS5	c.387-15_387-12del	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170349369_170349372del	(Likely) benign	2 labs	8a4cabd624
7:94049709 COL1A2 C>G	7	94049709	94049709	C	G	COL1A2	c.2140C>G	NM_000089.3	NP_000080.2:p.(Arg714Gly)	NC_000007.13:g.94049709C>G	VUS	2 labs	8a6ef2ab79
11:103059283 DYNC2H1 A>G	11	103059283	103059283	A	G	DYNC2H1	c.7198A>G	NM_001080463.2	NP_001073932.1:p.(Ile2400Val)	NC_000011.9:g.103059283A>G	(Likely) benign	2 labs	8aa1151aac
6:152536084 SYNE1 G>A	6	152536084	152536084	G	A	SYNE1	c.22090C>T	NM_033071.4	NP_149062.2:p.(Arg7364Cys)	NC_000006.11:g.152536084G>A	VUS	2 labs	8aa8c196f2
13:32913882 BRCA2 C>G	13	32913882	32913882	C	G	BRCA2	c.5390C>G	NM_000059.4	NP_000050.3:p.(Ala1797Gly)	NC_000013.10:g.32913882C>G	(Likely) benign	4 labs	8aaac5cf06
8:133153450 KCNQ3 A>G	8	133153450	133153450	A	G	KCNQ3	c.1391T>C	NM_004519.4	NP_004510.1:p.(Val464Ala)	NC_000008.10:g.133153450A>G	(Likely) benign	2 labs	8ad1345529
15:73660505 HCN4 C>T	15	73660505	73660505	C	T	HCN4	c.107G>A	NM_005477.3	NP_005468.1:p.(Gly36Glu)	NC_000015.9:g.73660505C>T	(Likely) benign	4 labs	8ad6a5a9f7
4:110667590 CFI C>T	4	110667590	110667590	C	T	CFI	c.1217G>A	NM_000204.3	NP_000195.2:p.(Arg406His)	NC_000004.11:g.110667590C>T	(Likely) benign	2 labs	8af3e6db3f
11:57365723 SERPING1 T>C	11	57365723	57365723	T	C	SERPING1	c.-21T>C	NM_000062.2	NP_000053.2:p.?	NC_000011.9:g.57365723T>C	(Likely) benign	2 labs	8afd061093
7:6022511 PMS2 CT>C	7	6022511	6022513	CT	C	PMS2	c.2117del	NM_000535.7	NP_000526.2:p.(Lys706SerfsTer19)	NC_000007.13:g.6022513del	(Likely) pathogenic	2 labs	d311cc1a57
10:79396126 KCNMA1 G>C	10	79396126	79396126	G	C	KCNMA1	c.693C>G	NM_001322839.2	NP_001309768.1:p.(Arg231=)	NC_000010.10:g.79396126G>C	(Likely) benign	2 labs	8b01400b87
9:449874 DOCK8 G>C	9	449874	449874	G	C	DOCK8	c.5908G>C	NM_203447.4	NP_982272.2:p.(Ala1970Pro)	NC_000009.11:g.449874G>C	(Likely) benign	2 labs	8b17a89b7f
16:1260364 CACNA1H A>C	16	1260364	1260364	A	C	CACNA1H	c.3846-6A>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260364A>C	(Likely) benign	2 labs	8b1db1dedf
6:51889409 PKHD1 G>T	6	51889409	51889409	G	T	PKHD1	c.5199C>A	NM_138694.4	NP_619639.3:p.(Thr1733=)	NC_000006.11:g.51889409G>T	(Likely) benign	2 labs	8b225e654f
X:100653436 GLA G>C	X	100653436	100653436	G	C	GLA	c.921C>G	NM_000169.3	NP_000160.1:p.(Ala307=)	NC_000023.10:g.100653436G>C	(Likely) benign	3 labs	8b2a2d11dd
2:179610722 TTN T>A	2	179610722	179610722	T	A	TTN	c.16405A>T	NM_133379.5	NP_596870.2:p.(Thr5469Ser)	NC_000002.11:g.179610722T>A	VUS	2 labs	d315d70a46
7:128497219 FLNC G>A	7	128497219	128497219	G	A	FLNC	c.7609G>A	NM_001458.4	NP_001449.3:p.(Ala2537Thr)	NC_000007.13:g.128497219G>A	(Likely) benign	2 labs	8b3270541e
16:27356203 IL4R A>G	16	27356203	27356203	A	G	IL4R	c.178A>G	NM_001257407.2	NP_001244336.1:p.(Ile60Val)	NC_000016.9:g.27356203A>G	(Likely) benign	2 labs	8b75d2ccb4
19:45452097 APOC2 C>A	19	45452097	45452097	C	A	APOC2	c.195C>A	NM_000483.5	NP_000474.2:p.(Pro65=)	NC_000019.9:g.45452097C>A	(Likely) benign	2 labs	8b4eef6ceb
13:32953388 BRCA2 T>C	13	32953388	32953388	T	C	BRCA2	c.8755-66T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953388T>C	(Likely) benign	3 labs	8b65f4fd4d
2:145157824 ZEB2 G>A	2	145157824	145157824	G	A	ZEB2	c.930C>T	NM_014795.4	NP_055610.1:p.(Tyr310=)	NC_000002.11:g.145157824G>A	(Likely) benign	2 labs	8b82fd5416
6:31912523 C2 T>C	6	31912523	31912523	T	C	C2	c.1922T>C	NM_000063.4	NP_000054.2:p.(Val641Ala)	NC_000006.11:g.31912523T>C	(Likely) benign	2 labs	8b90d1c4c2
1:235543476 TBCE TTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTG	T	TBCE	c.100+52_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543516_235543529del	(Likely) benign	2 labs	8ba83c9da8
10:102509528 PAX2 C>CG	10	102509528	102509535	C	CG	PAX2	c.76dup	NM_003987.5	NP_003978.3:p.(Val26GlyfsTer28)	NC_000010.10:g.102509535dup	(Likely) pathogenic	3 labs	8bef5f1e0f
X:115303595 AGTR2 G>T	X	115303595	115303595	G	T	AGTR2	c.62G>T	NM_000686.5	NP_000677.2:p.(Gly21Val)	NC_000023.10:g.115303595G>T	(Likely) benign	3 labs	d31c75a182
16:23391744 SCNN1B C>T	16	23391744	23391744	C	T	SCNN1B	c.1545C>T	NM_000336.3	NP_000327.2:p.(Ile515=)	NC_000016.9:g.23391744C>T	(Likely) benign	2 labs	8c126a7a32
2:109384335 RANBP2 C>T	2	109384335	109384335	C	T	RANBP2	c.7340C>T	NM_006267.4	NP_006258.3:p.(Ser2447Phe)	NC_000002.11:g.109384335C>T	(Likely) benign	2 labs	8c269c4bfe
18:28648871 DSC2 G>A	18	28648871	28648871	G	A	DSC2	c.2497C>T	NM_024422.6	NP_077740.1:p.(Arg833Cys)	NC_000018.9:g.28648871G>A	(Likely) benign	2 labs	d31cfd8b90
X:153649058 TAFAZZIN C>T	X	153649058	153649058	C	T	TAFAZZIN	c.761C>T	NM_000116.5	NP_000107.1:p.(Ala254Val)	NC_000023.10:g.153649058C>T	(Likely) benign	2 labs	8c3259dff2
12:22063787 ABCC9 A>G	12	22063787	22063787	A	G	ABCC9	c.1137T>C	NM_020297.2	NP_064693.2:p.(Thr379=)	NC_000012.11:g.22063787A>G	(Likely) benign	2 labs	8c46401a09
11:63978742 FERMT3 T>A	11	63978742	63978742	T	A	FERMT3	c.515-5T>A	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63978742T>A	(Likely) benign	2 labs	8c4a84159d
1:158612236 SPTA1 A>G	1	158612236	158612236	A	G	SPTA1	c.4702T>C	NM_003126.4	NP_003117.2:p.(Cys1568Arg)	NC_000001.10:g.158612236A>G	(Likely) benign	2 labs	8c85242ac2
18:28649144 DSC2 G>T	18	28649144	28649144	G	T	DSC2	c.2251-27C>A	NM_004949.3	NP_004940.1:p.?	NC_000018.9:g.28649144G>T	(Likely) benign	2 labs	8c7f3c9e08
2:25384048 POMC G>C	2	25384048	25384048	G	C	POMC	c.706C>G	NM_001319204.2	NP_001306133.1:p.(Arg236Gly)	NC_000002.11:g.25384048G>C	(Likely) pathogenic	3 labs	8c9d986f1b
9:35683240 TPM2 T>TG	9	35683240	35683248	T	TG	TPM2	c.773-3dup	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35683248dup	(Likely) benign	3 labs	8ca5f1124f
2:227963412 COL4A4 G>A	2	227963412	227963412	G	A	COL4A4	c.1202C>T	NM_000092.4	NP_000083.3:p.(Ala401Val)	NC_000002.11:g.227963412G>A	(Likely) benign	2 labs	8cdedbde59
16:50744823 NOD2 G>A	16	50744823	50744823	G	A	NOD2	c.1001G>A	NM_022162.1	NP_071445.1:p.(Arg334Gln)	NC_000016.9:g.50744823G>A	(Likely) pathogenic	2 labs	8cf95efedd
20:31021430 ASXL1 G>C	20	31021430	31021430	G	C	ASXL1	c.1429G>C	NM_015338.5	NP_056153.2:p.(Glu477Gln)	NC_000020.10:g.31021430G>C	(Likely) benign	2 labs	8cf9d64936
11:118015798 SCN4B A>G	11	118015798	118015798	A	G	SCN4B	c.208T>C	NM_174934.4	NP_777594.1:p.(Tyr70His)	NC_000011.9:g.118015798A>G	VUS	3 labs	8d128aa34a
16:2147374 PKD1 C>T	16	2147374	2147374	C	T	PKD1	c.10351G>A	NM_001009944.3	NP_001009944.3:p.(Asp3451Asn)	NC_000016.9:g.2147374C>T	(Likely) benign	2 labs	8d3454b99a
2:21233972 APOB T>C	2	21233972	21233972	T	C	APOB	c.5768A>G	NM_000384.3	NP_000375.3:p.(His1923Arg)	NC_000002.11:g.21233972T>C	(Likely) benign	2 labs	d3340f317b
12:57970540 KIF5A G>A	12	57970540	57970540	G	A	KIF5A	c.2199-4G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57970540G>A	(Likely) benign	2 labs	8d32ec373c
13:52548543 ATP7B G>T	13	52548543	52548543	G	T	ATP7B	c.813C>A	NM_000053.4	NP_000044.2:p.(Cys271Ter)	NC_000013.10:g.52548543G>T	(Likely) pathogenic	3 labs	8d493897e8
2:47287925 TTC7A C>A	2	47287925	47287925	C	A	TTC7A	c.2242C>A	NM_001288951.2	NP_001275880.1:p.(Gln748Lys)	NC_000002.11:g.47287925C>A	(Likely) benign	2 labs	8d5b9f1849
16:2161489 PKD1 C>A	16	2161489	2161489	C	A	PKD1	c.3679G>T	NM_001009944.2	NP_001009944.2:p.(Ala1227Ser)	NC_000016.9:g.2161489C>A	(Likely) benign	2 labs	8d6d8440d5
2:69553375 GFPT1 GAA>G	2	69553375	69553388	GAA	G	GFPT1	c.2056-12_2056-11del	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553387_69553388del	(Likely) benign	2 labs	8d70c9e885
18:47488625 MYO5B A>G	18	47488625	47488625	A	G	MYO5B	c.1545+11T>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47488625A>G	(Likely) benign	2 labs	8d8606eaec
15:55497777 RAB27A C>T	15	55497777	55497777	C	T	RAB27A	c.594G>A	NM_004580.5	NP_004571.2:p.(Val198=)	NC_000015.9:g.55497777C>T	(Likely) benign	2 labs	8da14b59fa
11:47361284 MYBPC3 A>G	11	47361284	47361284	A	G	MYBPC3	c.1985T>C	NM_000256.3	NP_000247.2:p.(Val662Ala)	NC_000011.9:g.47361284A>G	VUS	2 labs	8db9e8828b
19:7184413 INSR C>T	19	7184413	7184413	C	T	INSR	c.888G>A	NM_000208.4	NP_000199.2:p.(Ser296=)	NC_000019.9:g.7184413C>T	(Likely) benign	2 labs	8dcaf9a35d
2:48026231 MSH6 T>C	2	48026231	48026231	T	C	MSH6	c.1109T>C	NM_000179.3	NP_000170.1:p.(Leu370Ser)	NC_000002.11:g.48026231T>C	(Likely) pathogenic	3 labs	8dcfff62be
22:29115487 CHEK2 G>A	22	29115487	29115487	G	A	CHEK2	c.593-14C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115487G>A	(Likely) benign	4 labs	8df45fb915
16:88793063 PIEZO1 C>A	16	88793063	88793063	C	A	PIEZO1	c.3700-12G>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793063C>A	(Likely) benign	2 labs	8de708466c
19:49686408 TRPM4 A>C	19	49686408	49686408	A	C	TRPM4	c.1682A>C	NM_017636.4	NP_060106.2:p.(Asp561Ala)	NC_000019.9:g.49686408A>C	(Likely) benign	2 labs	8dfd4e744e
X:154156943 F8 G>A	X	154156943	154156943	G	A	F8	c.5122C>T	NM_000132.3	NP_000123.1:p.(Arg1708Cys)	NC_000023.10:g.154156943G>A	(Likely) pathogenic	2 labs	8e408246ce
7:143029983 CLCN1 T>C	7	143029983	143029983	T	C	CLCN1	c.1401+17T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143029983T>C	(Likely) benign	2 labs	8e55f1a058
7:128492873 FLNC T>C	7	128492873	128492873	T	C	FLNC	c.6005-9T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492873T>C	(Likely) benign	4 labs	8e40ad3050
20:45354829 SLC2A10 C>G	20	45354829	45354829	C	G	SLC2A10	c.1154C>G	NM_030777.4	NP_110404.1:p.(Ala385Gly)	NC_000020.10:g.45354829C>G	(Likely) benign	3 labs	8e557ea8c0
2:73675525 ALMS1 A>G	2	73675525	73675525	A	G	ALMS1	c.1874A>G	NM_015120.4	NP_055935.4:p.(His625Arg)	NC_000002.11:g.73675525A>G	(Likely) benign	3 labs	8e755ec23b
9:446352 DOCK8 G>C	9	446352	446352	G	C	DOCK8	c.5581-18G>C	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.446352G>C	(Likely) benign	2 labs	8ea38aa69d
16:1261162 CACNA1H C>T	16	1261162	1261162	C	T	CACNA1H	c.4224-6C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1261162C>T	(Likely) benign	2 labs	8ecd35c3cd
6:31915532 CFB C>T	6	31915532	31915532	C	T	CFB	c.672C>T	NM_001710.5	NP_001701.2:p.(Tyr224=)	NC_000006.11:g.31915532C>T	(Likely) benign	2 labs	8ee604e697
2:179499958 TTN T>C	2	179499958	179499958	T	C	TTN	c.41958A>G	NM_001267550.2	NP_001254479.2:p.(Ala13986=)	NC_000002.11:g.179499958T>C	(Likely) benign	2 labs	8ec8867989
22:51153476 SHANK3 G>A	22	51153476	51153476	G	A	SHANK3	c.2490+1G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51153476G>A	(Likely) pathogenic	2 labs	d348413884
19:12791136 DHPS C>T	19	12791136	12791136	C	T	DHPS	c.211G>A	NM_001930.4	NP_001921.1:p.(Glu71Lys)	NC_000019.9:g.12791136C>T	VUS	2 labs	d34a2be605
9:95527095 BICD2 T>C	9	95527095	95527095	T	C	BICD2	c.-69A>G	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95527095T>C	(Likely) benign	2 labs	8f2dec41e4
1:97981421 DPYD C>T	1	97981421	97981421	C	T	DPYD	c.1601G>A	NM_000110.4	NP_000101.2:p.(Ser534Asn)	NC_000001.10:g.97981421C>T	(Likely) benign	2 labs	8f392a3560
22:19906370 TXNRD2 G>A	22	19906370	19906370	G	A	TXNRD2	c.374+13C>T	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19906370G>A	(Likely) benign	2 labs	8f69e8bfa2
10:75871723 VCL C>T	10	75871723	75871723	C	T	VCL	c.2802C>T	NM_014000.3	NP_054706.1:p.(Ala934=)	NC_000010.10:g.75871723C>T	(Likely) benign	3 labs	8f7ce1edfe
1:196642969 CFH CT>C	1	196642969	196642978	CT	C	CFH	c.245-9del	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642978del	(Likely) benign	3 labs	8f844a17c2
4:79240063 FRAS1 A>G	4	79240063	79240063	A	G	FRAS1	c.2060A>G	NM_025074.7	NP_079350.5:p.(Asp687Gly)	NC_000004.11:g.79240063A>G	(Likely) benign	3 labs	8f9a58952f
11:47370042 MYBPC3 G>A	11	47370042	47370042	G	A	MYBPC3	c.705C>T	NM_000256.3	NP_000247.2:p.(Gly235=)	NC_000011.9:g.47370042G>A	(Likely) benign	2 labs	8fa03090bb
17:73830182 UNC13D C>T	17	73830182	73830182	C	T	UNC13D	c.2341G>A	NM_199242.3	NP_954712.1:p.(Val781Ile)	NC_000017.10:g.73830182C>T	(Likely) benign	2 labs	8fb530a8fd
6:51613177 PKHD1 C>T	6	51613177	51613177	C	T	PKHD1	c.9237G>A	NM_138694.4	NP_619639.3:p.(Ala3079=)	NC_000006.11:g.51613177C>T	(Likely) benign	2 labs	8fc341c6b1
12:6441166 TNFRSF1A C>CAA	12	6441166	6441190	C	CAA	TNFRSF1A	c.551+1067_551+1068dup	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6441189_6441190dup	(Likely) benign	2 labs	8fd4b1c68d
4:88983058 PKD2 AAT>A	4	88983058	88983062	AAT	A	PKD2	c.2023_2024del	NM_000297.4	NP_000288.1:p.(Met675ValfsTer7)	NC_000004.11:g.88983061_88983062del	(Likely) pathogenic	2 labs	8fce96f092
13:39264459 FREM2 A>G	13	39264459	39264459	A	G	FREM2	c.2978A>G	NM_207361.6	NP_997244.4:p.(Glu993Gly)	NC_000013.10:g.39264459A>G	(Likely) benign	2 labs	8fe68ecdd9
6:33652435 ITPR3 C>T	6	33652435	33652435	C	T	ITPR3	c.5107C>T	NM_002224.3	NP_002215.2:p.(Arg1703Trp)	NC_000006.11:g.33652435C>T	(Likely) benign	2 labs	8fea8647b5
6:112499335 LAMA4 C>CA	6	112499335	112499336	C	CA	LAMA4	c.1176_1177insT	NM_001105206.3	NP_001098676.2:p.(Asp393Ter)	NC_000006.11:g.112499335_112499336insA	VUS	2 labs	8ff290ca60
1:156106074 LMNA A>G	1	156106074	156106074	A	G	LMNA	c.1227A>G	NM_170707.4	NP_733821.1:p.(Thr409=)	NC_000001.10:g.156106074A>G	(Likely) benign	4 labs	901b3ec024
7:117232435 CFTR AG>A	7	117232435	117232436	AG	A	CFTR	c.2215del	NM_000492.4	NP_000483.3:p.(Val739TyrfsTer16)	NC_000007.13:g.117232436del	(Likely) pathogenic	2 labs	d357d709f6
16:88808728 PIEZO1 T>C	16	88808728	88808728	T	C	PIEZO1	c.263A>G	NM_001142864.4	NP_001136336.2:p.(Asp88Gly)	NC_000016.9:g.88808728T>C	(Likely) benign	2 labs	901effcd4a
1:12059080 MFN2 C>T	1	12059080	12059080	C	T	MFN2	c.744C>T	NM_014874.4	NP_055689.1:p.(Leu248=)	NC_000001.10:g.12059080C>T	(Likely) benign	2 labs	901fdee0d1
12:32974218 PKP2 T>C	12	32974218	32974218	T	C	PKP2	c.2145+72A>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32974218T>C	(Likely) benign	2 labs	905fcb136b
16:2157970 PKD1 G>A	16	2157970	2157970	G	A	PKD1	c.6979C>T	NM_001009944.3	NP_001009944.3:p.(Arg2327Trp)	NC_000016.9:g.2157970G>A	(Likely) benign	2 labs	9060404a19
19:38964128 RYR1 C>A	19	38964128	38964128	C	A	RYR1	c.3877C>A	NM_000540.2	NP_000531.2:p.(Pro1293Thr)	NC_000019.9:g.38964128C>A	(Likely) pathogenic	2 labs	9063fe80b8
2:152357937 NEB G>A	2	152357937	152357937	G	A	NEB	c.24094C>T	NM_001271208.1	NP_001258137.1:p.(Arg8032Ter)	NC_000002.11:g.152357937G>A	(Likely) pathogenic	2 labs	907041a7e9
19:36333081 NPHS1 T>TGG	19	36333081	36333085	T	TGG	NPHS1	c.2606_2607dup	NM_004646.3	NP_004637.1:p.(Asn870ProfsTer36)	NC_000019.9:g.36333084_36333085dup	(Likely) pathogenic	2 labs	9085ef7077
3:14176286 TMEM43 C>T	3	14176286	14176286	C	T	TMEM43	c.600C>T	NM_024334.2	NP_077310.1:p.(Val200=)	NC_000003.11:g.14176286C>T	(Likely) benign	2 labs	908d3a4b26
13:32972370 BRCA2 T>C	13	32972370	32972370	T	C	BRCA2	c.9720T>C	NM_000059.4	NP_000050.3:p.(Val3240=)	NC_000013.10:g.32972370T>C	(Likely) benign	3 labs	909ec24e14
7:47942013 PKD1L1 G>A	7	47942013	47942013	G	A	PKD1L1	c.2027C>T	NM_138295.5	NP_612152.1:p.(Pro676Leu)	NC_000007.13:g.47942013G>A	VUS	2 labs	90b507e551
12:49427485 KMT2D G>T	12	49427485	49427485	G	T	KMT2D	c.11003C>A	NM_003482.4	NP_003473.3:p.(Pro3668His)	NC_000012.11:g.49427485G>T	VUS	2 labs	d35c08f5c4
17:39925764 JUP G>A	17	39925764	39925764	G	A	JUP	c.374C>T	NM_001352773.2	NP_001339702.1:p.(Ser125Leu)	NC_000017.10:g.39925764G>A	VUS	2 labs	90fb106a06
14:95596536 DICER1 T>A	14	95596536	95596536	T	A	DICER1	c.439-7A>T	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95596536T>A	(Likely) benign	2 labs	d361243bcb
4:186444600 PDLIM3 C>T	4	186444600	186444600	C	T	PDLIM3	c.246G>A	NM_014476.6	NP_055291.2:p.(Arg82=)	NC_000004.11:g.186444600C>T	(Likely) benign	2 labs	90e82eb3dc
9:130588920 ENG G>A	9	130588920	130588920	G	A	ENG	c.392C>T	NM_000118.3	NP_000109.1:p.(Pro131Leu)	NC_000009.11:g.130588920G>A	(Likely) benign	2 labs	90e442bce7
17:44060859 MAPT A>G	17	44060859	44060859	A	G	MAPT	c.689A>G	NM_001123066.4	NP_001116538.2:p.(Gln230Arg)	NC_000017.10:g.44060859A>G	(Likely) benign	2 labs	90e8debb9f
X:128977666 ZDHHC9 C>A	X	128977666	128977666	C	A	ZDHHC9	c.-204+6G>T	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128977666C>A	(Likely) benign	2 labs	9115d5d901
17:73733421 ITGB4 G>A	17	73733421	73733421	G	A	ITGB4	c.2009G>A	NM_000213.5	NP_000204.3:p.(Arg670His)	NC_000017.10:g.73733421G>A	(Likely) benign	2 labs	911df8bc4b
14:23898213 MYH7 C>T	14	23898213	23898213	C	T	MYH7	c.1358G>A	NM_000257.4	NP_000248.2:p.(Arg453His)	NC_000014.8:g.23898213C>T	(Likely) pathogenic	2 labs	d365f41383
10:88492635 LDB3 C>T	10	88492635	88492635	C	T	LDB3	c.2095-9C>T	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88492635C>T	(Likely) benign	2 labs	916062809b
13:52508979 ATP7B C>T	13	52508979	52508979	C	T	ATP7B	c.4311G>A	NM_000053.4	NP_000044.2:p.(Lys1437=)	NC_000013.10:g.52508979C>T	(Likely) benign	3 labs	d36f596e53
15:85401597 ALPK3 C>T	15	85401597	85401597	C	T	ALPK3	c.3628C>T	NM_020778.5	NP_065829.4:p.(Arg1210Trp)	NC_000015.9:g.85401597C>T	(Likely) benign	3 labs	9199127b28
19:55451797 NLRP7 C>T	19	55451797	55451797	C	T	NLRP7	c.390G>A	NM_001127255.1	NP_001120727.1:p.(Gln130=)	NC_000019.9:g.55451797C>T	(Likely) benign	2 labs	91b1572069
6:401700 IRF4 C>T	6	401700	401700	C	T	IRF4	c.1022C>T	NM_002460.4	NP_002451.2:p.(Ala341Val)	NC_000006.11:g.401700C>T	(Likely) benign	2 labs	91b0631653
19:50365777 PNKP A>AG	19	50365777	50365782	A	AG	PNKP	c.936+17dup	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365782dup	(Likely) benign	2 labs	d371728557
9:14842658 FREM1 C>G	9	14842658	14842658	C	G	FREM1	c.1394G>C	NM_144966.5	NP_659403.4:p.(Gly465Ala)	NC_000009.11:g.14842658C>G	(Likely) benign	2 labs	91d45f3278
2:176957713 HOXD13 C>T	2	176957713	176957713	C	T	HOXD13	c.95C>T	NM_000523.4	NP_000514.2:p.(Ala32Val)	NC_000002.11:g.176957713C>T	VUS	2 labs	91e2c82780
17:43515335 PLEKHM1 C>T	17	43515335	43515335	C	T	PLEKHM1	c.3060G>A	NM_014798.3	NP_055613.1:p.(Arg1020=)	NC_000017.10:g.43515335C>T	(Likely) benign	2 labs	91e99812e9
5:127713468 FBN2 G>C	5	127713468	127713468	G	C	FBN2	c.1826C>G	NM_001999.4	NP_001990.2:p.(Thr609Ser)	NC_000005.9:g.127713468G>C	VUS	2 labs	91eafeea1f
17:62018952 SCN4A C>T	17	62018952	62018952	C	T	SCN4A	c.4690G>A	NM_000334.4	NP_000325.4:p.(Val1564Ile)	NC_000017.10:g.62018952C>T	(Likely) benign	2 labs	91f16f52dc
10:69921472 MYPN T>A	10	69921472	69921472	T	A	MYPN	c.578-14T>A	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69921472T>A	(Likely) benign	4 labs	9212cce36f
11:88045583 CTSC A>G	11	88045583	88045583	A	G	CTSC	c.458T>C	NM_001814.6	NP_001805.4:p.(Ile153Thr)	NC_000011.9:g.88045583A>G	(Likely) benign	2 labs	9225e72960
13:32953750 BRCA2 T>C	13	32953750	32953750	T	C	BRCA2	c.8953+98T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953750T>C	(Likely) benign	2 labs	921c8f3c4b
8:61777864 CHD7 C>T	8	61777864	61777864	C	T	CHD7	c.8366C>T	NM_017780.4	NP_060250.2:p.(Ala2789Val)	NC_000008.10:g.61777864C>T	(Likely) benign	2 labs	d37aca328d
10:21104613 NEBL T>C	10	21104613	21104613	T	C	NEBL	c.2182A>G	NM_006393.2	NP_006384.1:p.(Thr728Ala)	NC_000010.10:g.21104613T>C	(Likely) benign	2 labs	9237756f6b
17:10428271 MYH2 G>T	17	10428271	10428271	G	T	MYH2	c.4774C>A	NM_017534.6	NP_060004.3:p.(Leu1592Met)	NC_000017.10:g.10428271G>T	(Likely) benign	2 labs	9241d04740
2:44047136 ABCG5 T>C	2	44047136	44047136	T	C	ABCG5	c.1567A>G	NM_022436.3	NP_071881.1:p.(Ile523Val)	NC_000002.11:g.44047136T>C	(Likely) benign	2 labs	92343a6977
1:158607935 SPTA1 T>G	1	158607935	158607935	T	G	SPTA1	c.5077A>C	NM_003126.4	NP_003117.2:p.(Lys1693Gln)	NC_000001.10:g.158607935T>G	(Likely) benign	2 labs	92559d5afe
20:21695397 PAX1 CT>C	20	21695397	21695400	CT	C	PAX1	c.1564del	NM_006192.5	NP_006183.2:p.(Tyr522IlefsTer6)	NC_000020.10:g.21695400del	VUS	2 labs	9283531e40
9:14797516 FREM1 A>T	9	14797516	14797516	A	T	FREM1	c.3819T>A	NM_144966.5	NP_659403.4:p.(Asp1273Glu)	NC_000009.11:g.14797516A>T	(Likely) benign	2 labs	92719ac690
20:60911434 LAMA5 A>C	20	60911434	60911434	A	C	LAMA5	c.2285T>G	NM_005560.4	NP_005551.3:p.(Phe762Cys)	NC_000020.10:g.60911434A>C	(Likely) benign	2 labs	92a661941d
2:179579935 TTN C>T	2	179579935	179579935	C	T	TTN	c.25978G>A	NM_001267550.2	NP_001254479.2:p.(Val8660Ile)	NC_000002.11:g.179579935C>T	(Likely) benign	5 labs	d38c3a8f4d
2:46609733 EPAS1 G>A	2	46609733	46609733	G	A	EPAS1	c.2457G>A	NM_001430.5	NP_001421.2:p.(Val819=)	NC_000002.11:g.46609733G>A	(Likely) benign	3 labs	92c48100c4
3:38640418 SCN5A C>T	3	38640418	38640418	C	T	SCN5A	c.2014G>A	NM_001099404.2	NP_001092874.1:p.(Ala672Thr)	NC_000003.11:g.38640418C>T	(Likely) benign	2 labs	92ae8fae0c
2:170103472 LRP2 G>A	2	170103472	170103472	G	A	LRP2	c.2933C>T	NM_004525.3	NP_004516.2:p.(Thr978Met)	NC_000002.11:g.170103472G>A	(Likely) benign	2 labs	92de29538c
16:2548348 TBC1D24 C>T	16	2548348	2548348	C	T	TBC1D24	c.1093C>T	NM_001199107.2	NP_001186036.1:p.(Gln365Ter)	NC_000016.9:g.2548348C>T	(Likely) pathogenic	2 labs	92e86b79fc
7:131241029 PODXL GGGCGAC>G	7	131241029	131241054	GGGCGAC	G	PODXL	c.84_89del	NM_001018111.3	NP_001018121.1:p.(Pro30_Ser31del)	NC_000007.13:g.131241049_131241054del	(Likely) benign	2 labs	92d89fc8ea
15:31214422 FAN1 GTTA>G	15	31214422	31214427	GTTA	G	FAN1	c.2053-13_2053-11del	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31214425_31214427del	(Likely) benign	2 labs	93066d58bf
3:10188210 VHL T>C	3	10188210	10188210	T	C	VHL	c.353T>C	NM_000551.3	NP_000542.1:p.(Leu118Pro)	NC_000003.11:g.10188210T>C	(Likely) pathogenic	2 labs	93205f373e
8:61765633 CHD7 C>T	8	61765633	61765633	C	T	CHD7	c.6349C>T	NM_017780.4	NP_060250.2:p.(Leu2117Phe)	NC_000008.10:g.61765633C>T	VUS	2 labs	d3973a91be
2:152450668 NEB C>T	2	152450668	152450668	C	T	NEB	c.14370G>A	NM_001271208.1	NP_001258137.1:p.(Pro4790=)	NC_000002.11:g.152450668C>T	(Likely) benign	2 labs	9331317874
9:140707519 EHMT1 C>T	9	140707519	140707519	C	T	EHMT1	c.2929C>T	NM_024757.5	NP_079033.4:p.(Gln977Ter)	NC_000009.11:g.140707519C>T	(Likely) pathogenic	2 labs	9333784eed
3:38651264 SCN5A A>T	3	38651264	38651264	A	T	SCN5A	c.895T>A	NM_198056.3	NP_932173.1:p.(Leu299Met)	NC_000003.11:g.38651264A>T	(Likely) benign	3 labs	932643218a
14:23865901 MYH6 A>G	14	23865901	23865901	A	G	MYH6	c.2292+2T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23865901A>G	VUS	2 labs	93473aab21
2:227872756 COL4A4 C>T	2	227872756	227872756	C	T	COL4A4	c.4787G>A	NM_000092.4	NP_000083.3:p.(Trp1596Ter)	NC_000002.11:g.227872756C>T	(Likely) pathogenic	2 labs	935d842c06
1:201038650 CACNA1S C>T	1	201038650	201038650	C	T	CACNA1S	c.2440G>A	NM_000069.3	NP_000060.2:p.(Ala814Thr)	NC_000001.10:g.201038650C>T	(Likely) benign	4 labs	935aed785d
2:179391949 TTN A>G	2	179391949	179391949	A	G	TTN	c.107766T>C	NM_001267550.2	NP_001254479.2:p.(Gly35922=)	NC_000002.11:g.179391949A>G	(Likely) benign	3 labs	d39cb72eaf
10:69954268 MYPN A>G	10	69954268	69954268	A	G	MYPN	c.3074A>G	NM_032578.4	NP_115967.2:p.(Gln1025Arg)	NC_000010.10:g.69954268A>G	VUS	3 labs	d39cf4ec9b
1:43896217 SZT2 G>A	1	43896217	43896217	G	A	SZT2	c.4531G>A	NM_001365999.1	NP_001352928.1:p.(Val1511Ile)	NC_000001.10:g.43896217G>A	(Likely) benign	2 labs	937af996bc
4:154191578 TRIM2 G>A	4	154191578	154191578	G	A	TRIM2	c.41G>A	NM_001130067.2	NP_001123539.1:p.(Arg14His)	NC_000004.11:g.154191578G>A	(Likely) benign	2 labs	937fb7fc12
6:132168996 ENPP1 G>GGTGTGT	6	132168996	132169034	G	GGTGTGT	ENPP1	c.313+41_313+46dup	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132169029_132169034dup	(Likely) benign	2 labs	939db3cff6
2:179586779 TTN A>G	2	179586779	179586779	A	G	TTN	c.22611T>C	NM_001267550.2	NP_001254479.2:p.(His7537=)	NC_000002.11:g.179586779A>G	(Likely) benign	4 labs	d39ebf7391
17:36047275 HNF1B C>T	17	36047275	36047275	C	T	HNF1B	c.*100=	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047275C>T	(Likely) benign	3 labs	d3a048bde3
3:122002576 CASR A>G	3	122002576	122002576	A	G	CASR	c.1775A>G	NM_000388.4	NP_000379.3:p.(Asn592Ser)	NC_000003.11:g.122002576A>G	(Likely) benign	2 labs	93c8842fad
1:237837426 RYR2 A>G	1	237837426	237837426	A	G	RYR2	c.8621A>G	NM_001035.3	NP_001026.2:p.(Tyr2874Cys)	NC_000001.10:g.237837426A>G	VUS	2 labs	93ccd0f96a
11:32456795 WT1 C>G	11	32456795	32456795	C	G	WT1	c.112G>C	NM_024424.5	NP_077742.3:p.(Val38Leu)	NC_000011.9:g.32456795C>G	(Likely) benign	2 labs	93f633626b
19:36333383 NPHS1 G>A	19	36333383	36333383	G	A	NPHS1	c.2404C>T	NM_004646.4	NP_004637.1:p.(Arg802Trp)	NC_000019.9:g.36333383G>A	(Likely) pathogenic	3 labs	94016c51d5
5:161281192 GABRA1 C>A	5	161281192	161281192	C	A	GABRA1	c.103C>A	NM_000806.5	NP_000797.2:p.(Leu35Ile)	NC_000005.9:g.161281192C>A	(Likely) benign	2 labs	94092869e2
9:711399 KANK1 G>C	9	711399	711399	G	C	KANK1	c.633G>C	NM_015158.4	NP_055973.2:p.(Gln211His)	NC_000009.11:g.711399G>C	(Likely) benign	2 labs	942d875a6c
14:105179213 INF2 G>A	14	105179213	105179213	G	A	INF2	c.2659G>A	NM_022489.3	NP_071934.3:p.(Glu887Lys)	NC_000014.8:g.105179213G>A	(Likely) benign	2 labs	9436b938a9
7:75677504 MDH2 C>T	7	75677504	75677504	C	T	MDH2	c.26C>T	NM_005918.3	NP_005909.2:p.(Ala9Val)	NC_000007.13:g.75677504C>T	(Likely) benign	2 labs	94458011b0
X:15349998 PIGA G>A	X	15349998	15349998	G	A	PIGA	c.55C>T	NM_002641.3	NP_002632.1:p.(Arg19Trp)	NC_000023.10:g.15349998G>A	(Likely) benign	2 labs	944fd1503d
20:8737734 PLCB1 G>A	20	8737734	8737734	G	A	PLCB1	c.2565G>A	NM_182734.3	NP_877398.1:p.(Ala855=)	NC_000020.10:g.8737734G>A	(Likely) benign	2 labs	947fc82be0
21:47545826 COL6A2 C>T	21	47545826	47545826	C	T	COL6A2	c.2097C>T	NM_058175.3	NP_478055.2:p.(Gly699=)	NC_000021.8:g.47545826C>T	(Likely) benign	3 labs	da132b1471
1:237670113 RYR2 C>T	1	237670113	237670113	C	T	RYR2	c.2717C>T	NM_001035.3	NP_001026.2:p.(Pro906Leu)	NC_000001.10:g.237670113C>T	VUS	4 labs	94a660277a
11:47367849 MYBPC3 G>A	11	47367849	47367849	G	A	MYBPC3	c.999C>T	NM_000256.3	NP_000247.2:p.(Tyr333=)	NC_000011.9:g.47367849G>A	(Likely) benign	2 labs	9496a3d7f3
15:48580713 SLC12A1 T>C	15	48580713	48580713	T	C	SLC12A1	c.2873T>C	NM_000338.3	NP_000329.2:p.(Val958Ala)	NC_000015.9:g.48580713T>C	(Likely) benign	3 labs	94c423209c
20:62038378 KCNQ2 A>T	20	62038378	62038378	A	T	KCNQ2	c.2238T>A	NM_172107.4	NP_742105.1:p.(Pro746=)	NC_000020.10:g.62038378A>T	(Likely) benign	2 labs	94bd6dfdfd
X:110971409 ALG13 A>G	X	110971409	110971409	A	G	ALG13	c.2014-4A>G	NM_001257231.1	NP_001244160.1:p.?	NC_000023.10:g.110971409A>G	(Likely) benign	2 labs	94c483b2f8
1:235920574 LYST C>T	1	235920574	235920574	C	T	LYST	c.7059+7G>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235920574C>T	(Likely) benign	2 labs	94c4f2a054
22:36718463 MYH9 G>A	22	36718463	36718463	G	A	MYH9	c.705+11C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36718463G>A	(Likely) benign	2 labs	94d311ef19
12:88473986 CEP290 T>C	12	88473986	88473986	T	C	CEP290	c.5199A>G	NM_025114.4	NP_079390.3:p.(Gln1733=)	NC_000012.11:g.88473986T>C	(Likely) benign	2 labs	94fc02146c
13:31821992 B3GLCT T>C	13	31821992	31821992	T	C	B3GLCT	c.348T>C	NM_194318.4	NP_919299.3:p.(His116=)	NC_000013.10:g.31821992T>C	(Likely) benign	2 labs	d3c2cc9d6f
1:237664004 RYR2 C>G	1	237664004	237664004	C	G	RYR2	c.2204-7C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237664004C>G	(Likely) benign	5 labs	95650ef81d
17:78176044 CARD14 C>T	17	78176044	78176044	C	T	CARD14	c.2044C>T	NM_024110.4	NP_077015.2:p.(Arg682Trp)	NC_000017.10:g.78176044C>T	(Likely) benign	2 labs	956b5cf8f9
18:32398202 DTNA C>T	18	32398202	32398202	C	T	DTNA	c.784C>T	NM_001198939.2	NP_001185868.1:p.(His262Tyr)	NC_000018.9:g.32398202C>T	VUS	2 labs	95a3a51eac
14:102452773 DYNC1H1 T>A	14	102452773	102452773	T	A	DYNC1H1	c.2211T>A	NM_001376.5	NP_001367.2:p.(Val737=)	NC_000014.8:g.102452773T>A	(Likely) benign	2 labs	959414b09e
16:2153871 PKD1 C>T	16	2153871	2153871	C	T	PKD1	c.8187G>A	NM_001009944.2	NP_001009944.2:p.(Ser2729=)	NC_000016.9:g.2153871C>T	(Likely) benign	2 labs	95feab7556
12:49434424 KMT2D G>A	12	49434424	49434424	G	A	KMT2D	c.7129C>T	NM_003482.3	NP_003473.3:p.(Pro2377Ser)	NC_000012.11:g.49434424G>A	(Likely) benign	2 labs	95cb03d17d
14:23876267 MYH6 C>T	14	23876267	23876267	C	T	MYH6	c.166G>A	NM_002471.4	NP_002462.2:p.(Gly56Arg)	NC_000014.8:g.23876267C>T	(Likely) benign	5 labs	d3d2741bba
16:3640715 SLX4 G>A	16	3640715	3640715	G	A	SLX4	c.2924C>T	NM_032444.4	NP_115820.2:p.(Pro975Leu)	NC_000016.9:g.3640715G>A	(Likely) benign	3 labs	95e95b2cca
16:67976417 LCAT G>A	16	67976417	67976417	G	A	LCAT	c.597C>T	NM_000229.2	NP_000220.1:p.(Val199=)	NC_000016.9:g.67976417G>A	(Likely) benign	2 labs	95f5fe08aa
6:33411463 SYNGAP1 C>G	6	33411463	33411463	C	G	SYNGAP1	c.3134C>G	NM_006772.3	NP_006763.2:p.(Ala1045Gly)	NC_000006.11:g.33411463C>G	(Likely) benign	2 labs	960f697112
2:136590746 LCT C>T	2	136590746	136590746	C	T	LCT	c.655G>A	NM_002299.2	NP_002290.2:p.(Val219Ile)	NC_000002.11:g.136590746C>T	(Likely) benign	2 labs	96242cfb99
16:89348038 ANKRD11 G>C	16	89348038	89348038	G	C	ANKRD11	c.4912C>G	NM_001256182.2	NP_001243111.1:p.(Pro1638Ala)	NC_000016.9:g.89348038G>C	(Likely) benign	2 labs	96269b2d0b
15:28211921 OCA2 G>A	15	28211921	28211921	G	A	OCA2	c.1551C>T	NM_000275.3	NP_000266.2:p.(Cys517=)	NC_000015.9:g.28211921G>A	(Likely) benign	2 labs	d3d8213e6c
X:135323343 MAP7D3 T>C	X	135323343	135323343	T	C	MAP7D3	c.511A>G	NM_001173517.1	NP_001166988.1:p.(Met171Val)	NC_000023.10:g.135323343T>C	(Likely) benign	2 labs	966589baa1
1:237756859 RYR2 T>C	1	237756859	237756859	T	C	RYR2	c.4359T>C	NM_001035.3	NP_001026.2:p.(Tyr1453=)	NC_000001.10:g.237756859T>C	(Likely) benign	2 labs	9683deb823
X:13778631 OFD1 C>G	X	13778631	13778631	C	G	OFD1	c.1632C>G	NM_001330210.2	NP_001317139.1:p.(Ser544=)	NC_000023.10:g.13778631C>G	(Likely) benign	2 labs	96839b6e88
18:29118702 DSG2 C>T	18	29118702	29118702	C	T	DSG2	c.1652-12C>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29118702C>T	(Likely) benign	3 labs	96aa9e5822
12:12871056 CDKN1B C>T	12	12871056	12871056	C	T	CDKN1B	c.283C>T	NM_004064.5	NP_004055.1:p.(Pro95Ser)	NC_000012.11:g.12871056C>T	VUS	2 labs	da17c89fe1
X:47041666 RBM10 G>C	X	47041666	47041666	G	C	RBM10	c.2086G>C	NM_001204468.1	NP_001191397.1:p.(Ala696Pro)	NC_000023.10:g.47041666G>C	(Likely) benign	2 labs	969c610d19
2:202074098 CASP10 G>A	2	202074098	202074098	G	A	CASP10	c.1228G>A	NM_032977.3	NP_116759.2:p.(Val410Ile)	NC_000002.11:g.202074098G>A	(Likely) benign	2 labs	96a76c4d50
2:168115568 XIRP2 T>C	2	168115568	168115568	T	C	XIRP2	c.2611T>C	NM_001199143.1	NP_001186072.1:p.(Ser871Pro)	NC_000002.11:g.168115568T>C	(Likely) benign	2 labs	96a7c2e803
4:114302617 ANK2 A>G	4	114302617	114302617	A	G	ANK2	c.11864A>G	NM_001148.6	NP_001139.3:p.(Asn3955Ser)	NC_000004.11:g.114302617A>G	(Likely) benign	3 labs	969677a893
1:11907430 NPPA T>G	1	11907430	11907430	T	G	NPPA	c.190A>C	NM_006172.4	NP_006163.1:p.(Ser64Arg)	NC_000001.10:g.11907430T>G	(Likely) benign	5 labs	d3e73114bf
16:51174811 SALL1 G>T	16	51174811	51174811	G	T	SALL1	c.1322C>A	NM_002968.3	NP_002959.2:p.(Thr441Asn)	NC_000016.9:g.51174811G>T	(Likely) benign	2 labs	d3edb26a2f
6:83898330 PGM3 C>T	6	83898330	83898330	C	T	PGM3	c.473+3G>A	NM_001199917.2	NP_001186846.1:p.?	NC_000006.11:g.83898330C>T	(Likely) benign	2 labs	9714ec97e3
4:41748010 PHOX2B CGCCGCCGCCGCTGCCGCG>C	4	41748010	41748042	CGCCGCCGCCGCTGCCGCG	C	PHOX2B	c.741_758del	NM_003924.4	NP_003915.2:p.(Ala255_Ala260del)	NC_000004.11:g.41748025_41748042del	(Likely) benign	2 labs	971d23080b
11:103326040 DYNC2H1 A>G	11	103326040	103326040	A	G	DYNC2H1	c.12587+17A>G	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103326040A>G	(Likely) benign	2 labs	971f814450
1:985797 AGRN A>G	1	985797	985797	A	G	AGRN				NC_000001.10:g.985797A>G	(Likely) benign	2 labs	971f83f2a8
2:179463527 TTN G>A	2	179463527	179463527	G	A	TTN	c.56910C>T	NM_001267550.2	NP_001254479.2:p.(Gly18970=)	NC_000002.11:g.179463527G>A	(Likely) benign	3 labs	9717b19274
6:102503317 GRIK2 G>A	6	102503317	102503317	G	A	GRIK2	c.2424G>A	NM_001166247.1	NP_001159719.1:p.(Glu808=)	NC_000006.11:g.102503317G>A	(Likely) benign	2 labs	d3f5e3780f
22:35782911 HMOX1 C>T	22	35782911	35782911	C	T	HMOX1	c.378C>T	NM_002133.3	NP_002124.1:p.(Pro126=)	NC_000022.10:g.35782911C>T	(Likely) benign	2 labs	9762be0f4e
1:146747766 CHD1L A>G	1	146747766	146747766	A	G	CHD1L	c.1386-2A>G	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146747766A>G	(Likely) benign	2 labs	97afd7ab69
14:101349454 RTL1 G>T	14	101349454	101349454	G	T	RTL1	c.1672C>A	NM_001134888.2	NP_001128360.1:p.(Pro558Thr)	NC_000014.8:g.101349454G>T	(Likely) benign	2 labs	97ba945fc5
13:108863609 LIG4 G>A	13	108863609	108863609	G	A	LIG4	c.8C>T	NM_002312.3	NP_002303.2:p.(Ala3Val)	NC_000013.10:g.108863609G>A	(Likely) benign	2 labs	97bba96d7b
1:247588067 NLRP3 C>T	1	247588067	247588067	C	T	NLRP3	c.1322C>T	NM_004895.4	NP_004886.3:p.(Ala441Val)	NC_000001.10:g.247588067C>T	(Likely) pathogenic	2 labs	97c3488e56
2:152409296 NEB G>A	2	152409296	152409296	G	A	NEB	c.19732-6C>T	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152409296G>A	(Likely) benign	2 labs	97e0815c9b
X:49850644 CLCN5 C>T	X	49850644	49850644	C	T	CLCN5	c.731C>T	NM_000084.5	NP_000075.1:p.(Ser244Leu)	NC_000023.10:g.49850644C>T	(Likely) pathogenic	3 labs	97e27eec2d
15:48744908 FBN1 AAGG>A	15	48744908	48744913	AAGG	A	FBN1	c.5423-30_5423-28del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48744911_48744913del	(Likely) benign	2 labs	d4068019ae
13:32899343 BRCA2 A>G	13	32899343	32899343	A	G	BRCA2	c.425+22A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899343A>G	(Likely) benign	2 labs	982bd349a8
2:73786144 ALMS1 AC>A	2	73786144	73786147	AC	A	ALMS1	c.10262del	NM_001378454.1	NP_001365383.1:p.(Pro3421GlnfsTer3)	NC_000002.11:g.73786147del	(Likely) pathogenic	2 labs	9835a28639
15:43250243 UBR1 A>G	15	43250243	43250243	A	G	UBR1	c.4803T>C	NM_174916.3	NP_777576.1:p.(Tyr1601=)	NC_000015.9:g.43250243A>G	(Likely) benign	2 labs	983d2aadce
20:52786219 CYP24A1 G>A	20	52786219	52786219	G	A	CYP24A1	c.552C>T	NM_000782.5	NP_000773.2:p.(Ala184=)	NC_000020.10:g.52786219G>A	(Likely) benign	3 labs	984b04d535
18:2925284 LPIN2 G>A	18	2925284	2925284	G	A	LPIN2	c.1876C>T	NM_014646.2	NP_055461.1:p.(Pro626Ser)	NC_000018.9:g.2925284G>A	(Likely) benign	2 labs	984ed1156c
13:32953959 BRCA2 AT>A	13	32953959	32953960	AT	A	BRCA2	c.9027del	NM_000059.4	NP_000050.3:p.(His3010IlefsTer18)	NC_000013.10:g.32953960del	(Likely) pathogenic	2 labs	d40d57b9ca
17:8131548 CTC1 G>A	17	8131548	8131548	G	A	CTC1	c.3604C>T	NM_025099.6	NP_079375.3:p.(Arg1202Ter)	NC_000017.10:g.8131548G>A	VUS	2 labs	987c0a060e
22:36708196 MYH9 G>A	22	36708196	36708196	G	A	MYH9	c.1626C>T	NM_002473.5	NP_002464.1:p.(Phe542=)	NC_000022.10:g.36708196G>A	(Likely) benign	2 labs	988cf3fe37
3:121973114 CASR C>G	3	121973114	121973114	C	G	CASR	c.78C>G	NM_000388.4	NP_000379.3:p.(Ala26=)	NC_000003.11:g.121973114C>G	(Likely) benign	2 labs	98a3949db1
20:62046496 KCNQ2 C>CGACAGACA	20	62046496	62046510	C	CGACAGACA	KCNQ2	c.1302-25_1302-18dup	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62046503_62046510dup	(Likely) benign	2 labs	d40eb65c19
3:48609814 COL7A1 G>T	3	48609814	48609814	G	T	COL7A1	c.6977C>A	NM_000094.4	NP_000085.1:p.(Pro2326Gln)	NC_000003.11:g.48609814G>T	VUS	2 labs	d412a605ed
11:36595600 RAG1 A>G	11	36595600	36595600	A	G	RAG1	c.746A>G	NM_000448.3	NP_000439.2:p.(His249Arg)	NC_000011.9:g.36595600A>G	(Likely) benign	2 labs	98d8f75923
5:127873114 FBN2 G>C	5	127873114	127873114	G	C	FBN2	c.183C>G	NM_001999.4	NP_001990.2:p.(Pro61=)	NC_000005.9:g.127873114G>C	(Likely) benign	2 labs	98df6882bb
16:23200963 SCNN1G G>A	16	23200963	23200963	G	A	SCNN1G	c.589G>A	NM_001039.4	NP_001030.2:p.(Glu197Lys)	NC_000016.9:g.23200963G>A	(Likely) benign	2 labs	98f1d5e664
16:19085361 COQ7 C>T	16	19085361	19085361	C	T	COQ7	c.367+4C>T	NM_016138.5	NP_057222.2:p.?	NC_000016.9:g.19085361C>T	(Likely) benign	2 labs	98f9c3f38e
6:7583018 DSP A>C	6	7583018	7583018	A	C	DSP	c.5523A>C	NM_004415.2	NP_004406.2:p.(Ser1841=)	NC_000006.11:g.7583018A>C	(Likely) benign	2 labs	98fbf90dec
4:79420864 FRAS1 T>C	4	79420864	79420864	T	C	FRAS1	c.9116-11T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420864T>C	(Likely) benign	2 labs	990b80fa27
10:71055452 HK1 T>C	10	71055452	71055452	T	C	HK1	c.-67+16T>C	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71055452T>C	(Likely) benign	2 labs	991d1e1f67
15:89870132 POLG A>G	15	89870132	89870132	A	G	POLG	c.1585+11T>C	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89870132A>G	(Likely) benign	2 labs	9937081910
1:119575679 WARS2 T>A	1	119575679	119575679	T	A	WARS2	c.938A>T	NM_015836.4	NP_056651.1:p.(Lys313Met)	NC_000001.10:g.119575679T>A	(Likely) pathogenic	3 labs	d41475daeb
7:33573804 BBS9 A>G	7	33573804	33573804	A	G	BBS9	c.2521+16A>G	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33573804A>G	(Likely) benign	2 labs	994fdff0a4
15:28228644 OCA2 G>A	15	28228644	28228644	G	A	OCA2	c.1365-15C>T	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28228644G>A	(Likely) benign	2 labs	d41793a58c
4:5627493 EVC2 G>T	4	5627493	5627493	G	T	EVC2	c.2029C>A	NM_147127.5	NP_667338.3:p.(Arg677=)	NC_000004.11:g.5627493G>T	(Likely) benign	2 labs	9976b73653
16:57494027 COQ9 C>A	16	57494027	57494027	C	A	COQ9	c.921+11C>A	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57494027C>A	(Likely) benign	2 labs	9975a93737
7:21856151 DNAH11 G>A	7	21856151	21856151	G	A	DNAH11	c.10399G>A	NM_001277115.2	NP_001264044.1:p.(Ala3467Thr)	NC_000007.13:g.21856151G>A	(Likely) benign	2 labs	d41ac9a5d3
21:47424346 COL6A1 A>G	21	47424346	47424346	A	G	COL6A1	c.*419A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47424346A>G	(Likely) benign	2 labs	99859193a6
2:227896864 COL4A4 C>T	2	227896864	227896864	C	T	COL4A4	c.3706G>A	NM_000092.4	NP_000083.3:p.(Gly1236Arg)	NC_000002.11:g.227896864C>T	(Likely) pathogenic	2 labs	99a5c28ed7
X:107829929 COL4A5 C>T	X	107829929	107829929	C	T	COL4A5	c.1117C>T	NM_000495.5	NP_000486.1:p.(Arg373Ter)	NC_000023.10:g.107829929C>T	(Likely) pathogenic	2 labs	99b047b14f
2:48033790 MSH6 G>A	2	48033790	48033790	G	A	MSH6	c.4001G>A	NM_000179.2	NP_000170.1:p.(Arg1334Gln)	NC_000002.11:g.48033790G>A	(Likely) pathogenic	2 labs	99b2b612d2
8:143994702 CYP11B2 G>T	8	143994702	143994702	G	T	CYP11B2	c.1120C>A	NM_000498.3	NP_000489.3:p.(Arg374=)	NC_000008.10:g.143994702G>T	(Likely) benign	3 labs	99e766525c
15:41224382 DLL4 G>A	15	41224382	41224382	G	A	DLL4	c.672G>A	NM_019074.4	NP_061947.1:p.(Ser224=)	NC_000015.9:g.41224382G>A	(Likely) benign	2 labs	99e53d15e3
11:823809 PNPLA2 C>G	11	823809	823809	C	G	PNPLA2	c.873C>G	NM_020376.4	NP_065109.1:p.(Pro291=)	NC_000011.9:g.823809C>G	(Likely) benign	2 labs	99ea40a0fa
5:45695916 HCN1 T>C	5	45695916	45695916	T	C	HCN1	c.280A>G	NM_021072.4	NP_066550.2:p.(Met94Val)	NC_000005.9:g.45695916T>C	(Likely) benign	2 labs	99eadc8844
16:81946328 PLCG2 G>A	16	81946328	81946328	G	A	PLCG2	c.2054+7G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81946328G>A	(Likely) benign	2 labs	9a51ff7e60
12:103246653 PAH C>G	12	103246653	103246653	C	G	PAH	c.782G>C	NM_000277.3	NP_000268.1:p.(Arg261Pro)	NC_000012.11:g.103246653C>G	(Likely) pathogenic	3 labs	9a5f820671
9:135202120 SETX G>A	9	135202120	135202120	G	A	SETX	c.4865C>T	NM_015046.7	NP_055861.3:p.(Pro1622Leu)	NC_000009.11:g.135202120G>A	(Likely) benign	2 labs	9a5262e6e8
2:179410297 TTN C>G	2	179410297	179410297	C	G	TTN	c.95540G>C	NM_001267550.2	NP_001254479.2:p.(Arg31847Pro)	NC_000002.11:g.179410297C>G	VUS	4 labs	d4216e522c
16:2141865 PKD1 G>GC	16	2141865	2141870	G	GC	PKD1	c.11453dup	NM_001009944.2	NP_001009944.2:p.(Tyr3819LeufsTer142)	NC_000016.9:g.2141870dup	(Likely) pathogenic	2 labs	9aaea935ea
6:110113874 FIG4 T>G	6	110113874	110113874	T	G	FIG4	c.2459+7T>G	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110113874T>G	(Likely) benign	2 labs	9ab012ab2c
2:21232044 APOB C>T	2	21232044	21232044	C	T	APOB	c.7696G>A	NM_000384.3	NP_000375.3:p.(Glu2566Lys)	NC_000002.11:g.21232044C>T	(Likely) benign	4 labs	d4250d5bd9
12:21919461 KCNJ8 C>G	12	21919461	21919461	C	G	KCNJ8	c.471G>C	NM_004982.4	NP_004973.1:p.(Thr157=)	NC_000012.11:g.21919461C>G	(Likely) benign	2 labs	9ade0f9ac6
2:219757570 WNT10A G>C	2	219757570	219757570	G	C	WNT10A	c.831G>C	NM_025216.3	NP_079492.2:p.(Trp277Cys)	NC_000002.11:g.219757570G>C	(Likely) pathogenic	3 labs	9b05a01676
18:32395883 DTNA C>T	18	32395883	32395883	C	T	DTNA	c.614C>T	NM_001198939.2	NP_001185868.1:p.(Thr205Met)	NC_000018.9:g.32395883C>T	VUS	2 labs	9b0dc548c9
13:108863591 LIG4 G>A	13	108863591	108863591	G	A	LIG4	c.26C>T	NM_002312.3	NP_002303.2:p.(Thr9Ile)	NC_000013.10:g.108863591G>A	(Likely) benign	2 labs	9b0f5f208d
1:10318652 KIF1B C>G	1	10318652	10318652	C	G	KIF1B	c.285C>G	NM_015074.3	NP_055889.2:p.(Ala95=)	NC_000001.10:g.10318652C>G	(Likely) benign	2 labs	d4308a44a8
16:56899394 SLC12A3 C>T	16	56899394	56899394	C	T	SLC12A3	c.247C>T	NM_000339.3	NP_000330.3:p.(Arg83Trp)	NC_000016.9:g.56899394C>T	(Likely) pathogenic	2 labs	9b39e506aa
9:97934359 FANCC C>T	9	97934359	97934359	C	T	FANCC	c.416G>A	NM_000136.3	NP_000127.2:p.(Gly139Glu)	NC_000009.11:g.97934359C>T	(Likely) benign	3 labs	9b29cf8f2e
1:158614198 SPTA1 C>T	1	158614198	158614198	C	T	SPTA1	c.4195-12G>A	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158614198C>T	(Likely) benign	2 labs	9b5411c195
16:89623393 SPG7 G>A	16	89623393	89623393	G	A	SPG7	c.2280G>A	NM_003119.4	NP_003110.1:p.(Pro760=)	NC_000016.9:g.89623393G>A	(Likely) benign	2 labs	9b67f09440
10:96066341 PLCE1 A>G	10	96066341	96066341	A	G	PLCE1	c.5780A>G	NM_016341.4	NP_057425.3:p.(His1927Arg)	NC_000010.10:g.96066341A>G	(Likely) benign	3 labs	9b7d9bdb26
2:179433407 TTN C>A	2	179433407	179433407	C	A	TTN	c.77452G>T	NM_001267550.2	NP_001254479.2:p.(Glu25818Ter)	NC_000002.11:g.179433407C>A	(Likely) pathogenic	3 labs	9b94db536c
12:57957481 KIF5A G>A	12	57957481	57957481	G	A	KIF5A	c.291+5G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57957481G>A	VUS	2 labs	9ba9a79a53
12:48393802 COL2A1 G>T	12	48393802	48393802	G	T	COL2A1	c.192C>A	NM_001844.5	NP_001835.3:p.(Cys64Ter)	NC_000012.11:g.48393802G>T	(Likely) pathogenic	3 labs	d43690c7f1
2:109356978 RANBP2 G>C	2	109356978	109356978	G	C	RANBP2	c.816G>C	NM_006267.4	NP_006258.3:p.(Leu272Phe)	NC_000002.11:g.109356978G>C	(Likely) benign	2 labs	9bb75978e9
19:36342579 NPHS1 G>C	19	36342579	36342579	G	C	NPHS1	c.59-5C>G	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36342579G>C	(Likely) benign	2 labs	9bc19cd57d
5:1216775 SLC6A19 A>G	5	1216775	1216775	A	G	SLC6A19	c.990A>G	NM_001003841.3	NP_001003841.1:p.(Thr330=)	NC_000005.9:g.1216775A>G	(Likely) benign	3 labs	9bd923da16
4:79205699 FRAS1 T>A	4	79205699	79205699	T	A	FRAS1	c.1396T>A	NM_025074.7	NP_079350.5:p.(Leu466Ile)	NC_000004.11:g.79205699T>A	(Likely) benign	2 labs	9bdd0f445a
1:155260383 PKLR G>T	1	155260383	155260383	G	T	PKLR	c.1705C>A	NM_000298.6	NP_000289.1:p.(Arg569=)	NC_000001.10:g.155260383G>T	(Likely) benign	2 labs	9c2f318ce9
9:113457722 MUSK T>C	9	113457722	113457722	T	C	MUSK	c.398T>C	NM_005592.4	NP_005583.1:p.(Ile133Thr)	NC_000009.11:g.113457722T>C	(Likely) benign	3 labs	9bf28d4ca7
8:61769418 CHD7 A>C	8	61769418	61769418	A	C	CHD7	c.7579A>C	NM_017780.4	NP_060250.2:p.(Met2527Leu)	NC_000008.10:g.61769418A>C	(Likely) benign	3 labs	d439f3e7f0
5:1282755 TERT C>G	5	1282755	1282755	C	G	TERT	c.1574-16G>C	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1282755C>G	(Likely) benign	3 labs	9c560b0c50
6:47445927 CD2AP T>A	6	47445927	47445927	T	A	CD2AP	c.-54T>A	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47445927T>A	(Likely) benign	2 labs	9c77ca5de5
17:73732696 ITGB4 G>A	17	73732696	73732696	G	A	ITGB4	c.1911G>A	NM_000213.5	NP_000204.3:p.(Ala637=)	NC_000017.10:g.73732696G>A	(Likely) benign	2 labs	9c7ae948f4
14:23858184 MYH6 T>C	14	23858184	23858184	T	C	MYH6	c.4059A>G	NM_002471.4	NP_002462.2:p.(Thr1353=)	NC_000014.8:g.23858184T>C	(Likely) benign	2 labs	9c809eeb93
16:2154618 PKD1 C>T	16	2154618	2154618	C	T	PKD1	c.8042G>A	NM_001009944.2	NP_001009944.2:p.(Arg2681His)	NC_000016.9:g.2154618C>T	(Likely) benign	2 labs	9c8355b89c
10:75867020 VCL C>T	10	75867020	75867020	C	T	VCL	c.2467C>T	NM_014000.3	NP_054706.1:p.(Arg823Trp)	NC_000010.10:g.75867020C>T	VUS	5 labs	d44025a5f2
17:68172245 KCNJ2 T>G	17	68172245	68172245	T	G	KCNJ2	c.1065T>G	NM_000891.3	NP_000882.1:p.(Leu355=)	NC_000017.10:g.68172245T>G	(Likely) benign	2 labs	9cb7bdd26e
4:88967794 PKD2 G>T	4	88967794	88967794	G	T	PKD2	c.1320G>T	NM_000297.4	NP_000288.1:p.(Arg440Ser)	NC_000004.11:g.88967794G>T	(Likely) pathogenic	2 labs	9cfefd4f6d
X:47058451 UBA1 T>C	X	47058451	47058451	T	C	UBA1	c.122T>C	NM_003334.4	NP_003325.2:p.(Met41Thr)	NC_000023.10:g.47058451T>C	(Likely) pathogenic	3 labs	9d0d5dde10
3:123457877 MYLK C>T	3	123457877	123457877	C	T	MYLK	c.455G>A	NM_053025.4	NP_444253.3:p.(Arg152His)	NC_000003.11:g.123457877C>T	(Likely) benign	2 labs	9d115d3517
1:43897002 SZT2 T>C	1	43897002	43897002	T	C	SZT2	c.4983T>C	NM_001365999.1	NP_001352928.1:p.(Asp1661=)	NC_000001.10:g.43897002T>C	(Likely) benign	2 labs	9d135eb0e1
2:44065792 ABCG5 G>A	2	44065792	44065792	G	A	ABCG5	c.27C>T	NM_022436.3	NP_071881.1:p.(Pro9=)	NC_000002.11:g.44065792G>A	(Likely) benign	2 labs	9d22c222ff
16:8905040 PMM2 G>A	16	8905040	8905040	G	A	PMM2	c.447+5G>A	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8905040G>A	VUS	2 labs	9d32dae35a
12:39751215 KIF21A C>G	12	39751215	39751215	C	G	KIF21A	c.1240G>C	NM_001173464.2	NP_001166935.1:p.(Gly414Arg)	NC_000012.11:g.39751215C>G	(Likely) benign	2 labs	9d5078c319
9:79897117 VPS13A G>A	9	79897117	79897117	G	A	VPS13A	c.3045G>A	NM_001018037.2	NP_001018047.1:p.(Pro1015=)	NC_000009.11:g.79897117G>A	(Likely) benign	2 labs	9d333e88d8
1:1747257 GNB1 C>T	1	1747257	1747257	C	T	GNB1	c.141G>A	NM_002074.5	NP_002065.1:p.(Thr47=)	NC_000001.10:g.1747257C>T	(Likely) benign	2 labs	9d6974b15f
16:56913504 SLC12A3 C>T	16	56913504	56913504	C	T	SLC12A3	c.1386C>T	NM_000339.3	NP_000330.3:p.(Phe462=)	NC_000016.9:g.56913504C>T	(Likely) benign	2 labs	9d7c5b1a11
1:196801078 CFHR1 A>T	1	196801078	196801078	A	T	CFHR1	c.942A>T	NM_002113.2	NP_002104.2:p.(Arg314=)	NC_000001.10:g.196801078A>T	(Likely) benign	2 labs	9d7cafd780
16:1260449 CACNA1H G>A	16	1260449	1260449	G	A	CACNA1H	c.3925G>A	NM_021098.3	NP_066921.2:p.(Val1309Ile)	NC_000016.9:g.1260449G>A	(Likely) benign	2 labs	9d98787ef2
3:38645412 SCN5A G>A	3	38645412	38645412	G	A	SCN5A	c.1681C>T	NM_001099404.2	NP_001092874.1:p.(Leu561=)	NC_000003.11:g.38645412G>A	(Likely) benign	5 labs	d4541b4c18
19:6685010 C3 G>T	19	6685010	6685010	G	T	C3	c.3958C>A	NM_000064.2	NP_000055.2:p.(Arg1320=)	NC_000019.9:g.6685010G>T	(Likely) benign	2 labs	9dbeb18718
2:179473539 TTN T>G	2	179473539	179473539	T	G	TTN	c.52199A>C	NM_001267550.2	NP_001254479.2:p.(Glu17400Ala)	NC_000002.11:g.179473539T>G	VUS	2 labs	d4561f4579
8:61765966 CHD7 G>A	8	61765966	61765966	G	A	CHD7				NC_000008.10:g.61765966G>A	(Likely) benign	2 labs	9dd23d4ee0
4:110681505 CFI C>T	4	110681505	110681505	C	T	CFI	c.804G>A	NM_000204.5	NP_000195.3:p.(Ser268=)	NC_000004.11:g.110681505C>T	(Likely) benign	3 labs	9e0ea597d4
2:109513654 EDAR G>A	2	109513654	109513654	G	A	EDAR	c.1056C>T	NM_022336.4	NP_071731.1:p.(Cys352=)	NC_000002.11:g.109513654G>A	(Likely) benign	2 labs	9e157498a5
20:57484241 GNAS C>T	20	57484241	57484241	C	T	GNAS	c.2484C>T	NM_080425.4	NP_536350.2:p.(Ile828=)	NC_000020.10:g.57484241C>T	(Likely) benign	3 labs	9e01b5a477
2:220285058 DES T>A	2	220285058	220285058	T	A	DES	c.725T>A	NM_001927.4	NP_001918.3:p.(Val242Glu)	NC_000002.11:g.220285058T>A	VUS	3 labs	9e29b6c58c
17:41256103 BRCA1 G>A	17	41256103	41256103	G	A	BRCA1	c.441+36C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256103G>A	(Likely) benign	2 labs	9e31c0a82f
20:60893564 LAMA5 T>C	20	60893564	60893564	T	C	LAMA5	c.7185A>G	NM_005560.4	NP_005551.3:p.(Thr2395=)	NC_000020.10:g.60893564T>C	(Likely) benign	2 labs	9e33c6375a
19:36334419 NPHS1 G>A	19	36334419	36334419	G	A	NPHS1	c.2289C>T	NM_004646.4	NP_004637.1:p.(Val763=)	NC_000019.9:g.36334419G>A	(Likely) benign	3 labs	9e513e277e
1:228464633 OBSCN C>G	1	228464633	228464633	C	G	OBSCN	c.7615C>G	NM_001271223.2	NP_001258152.2:p.(Leu2539Val)	NC_000001.10:g.228464633C>G	(Likely) benign	2 labs	9e4f62ef44
7:6026775 PMS2 T>C	7	6026775	6026775	T	C	PMS2	c.1621A>G	NM_000535.7	NP_000526.2:p.(Lys541Glu)	NC_000007.13:g.6026775T>C	(Likely) benign	4 labs	d4643c9d4a
X:149826503 MTM1 G>A	X	149826503	149826503	G	A	MTM1	c.1260+3G>A	NM_000252.3	NP_000243.1:p.?	NC_000023.10:g.149826503G>A	(Likely) benign	3 labs	9e6888e21f
16:51175655 SALL1 C>CGCCGCT	16	51175655	51175658	C	CGCCGCT	SALL1	c.186_187insAGCGGC	NM_001127892.2	NP_001121364.1:p.(Ser62_Gly63insSerGly)	NC_000016.9:g.51175657_51175658insCGCTGC	(Likely) benign	3 labs	d4652f3f73
8:94811906 TMEM67 C>T	8	94811906	94811906	C	T	TMEM67	c.2161C>T	NM_153704.5	NP_714915.3:p.(Pro721Ser)	NC_000008.10:g.94811906C>T	(Likely) benign	2 labs	9e8e58df14
2:44051092 ABCG5 G>A	2	44051092	44051092	G	A	ABCG5	c.1284C>T	NM_022436.3	NP_071881.1:p.(Gly428=)	NC_000002.11:g.44051092G>A	(Likely) benign	2 labs	9e97deb7d3
17:39913725 JUP C>T	17	39913725	39913725	C	T	JUP	c.1988G>A	NM_002230.2	NP_002221.1:p.(Arg663His)	NC_000017.10:g.39913725C>T	VUS	2 labs	9ea5b2d73f
1:22202483 HSPG2 G>A	1	22202483	22202483	G	A	HSPG2	c.3056C>T	NM_005529.6	NP_005520.4:p.(Pro1019Leu)	NC_000001.10:g.22202483G>A	(Likely) benign	2 labs	9eaaf53348
2:217281004 SMARCAL1 T>C	2	217281004	217281004	T	C	SMARCAL1	c.836T>C	NM_014140.3	NP_054859.2:p.(Phe279Ser)	NC_000002.11:g.217281004T>C	VUS	2 labs	9eb48ab471
2:179614204 TTN T>C	2	179614204	179614204	T	C	TTN	c.12923A>G	NM_133379.5	NP_596870.2:p.(Tyr4308Cys)	NC_000002.11:g.179614204T>C	(Likely) benign	2 labs	d4675ce723
7:4825307 AP5Z1 T>A	7	4825307	4825307	T	A	AP5Z1	c.1124T>A	NM_014855.3	NP_055670.1:p.(Leu375Gln)	NC_000007.13:g.4825307T>A	(Likely) benign	2 labs	9ebffee62e
2:228147073 COL4A3 G>A	2	228147073	228147073	G	A	COL4A3	c.2489-8G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228147073G>A	(Likely) benign	2 labs	9ecbce09fb
9:35065348 VCP C>T	9	35065348	35065348	C	T	VCP	c.476G>A	NM_007126.3	NP_009057.1:p.(Arg159His)	NC_000009.11:g.35065348C>T	(Likely) pathogenic	2 labs	9ef7972a0c
2:211503856 CPS1 A>G	2	211503856	211503856	A	G	CPS1	c.2830-18A>G	NM_001122633.3	NP_001116105.2:p.?	NC_000002.11:g.211503856A>G	(Likely) benign	2 labs	9f09af9171
11:108126944 ATM T>C	11	108126944	108126944	T	C	ATM	c.2127T>C	NM_000051.3	NP_000042.3:p.(Ile709=)	NC_000011.9:g.108126944T>C	(Likely) benign	4 labs	9f20e71ebc
7:87032613 ABCB4 A>G	7	87032613	87032613	A	G	ABCB4	c.3508-16T>C	NM_018849.3	NP_061337.1:p.?	NC_000007.13:g.87032613A>G	(Likely) benign	2 labs	d475d9780f
14:23888398 MYH7 C>T	14	23888398	23888398	C	T	MYH7	c.3960G>A	NM_000257.4	NP_000248.2:p.(Glu1320=)	NC_000014.8:g.23888398C>T	(Likely) benign	4 labs	9f5fe92d3e
3:168845853 MECOM G>C	3	168845853	168845853	G	C	MECOM	c.50-5C>G	NM_001105078.4	NP_001098548.2:p.?	NC_000003.11:g.168845853G>C	(Likely) benign	2 labs	9f60a2d952
20:23028638 THBD C>G	20	23028638	23028638	C	G	THBD	c.1504G>C	NM_000361.2	NP_000352.1:p.(Gly502Arg)	NC_000020.10:g.23028638C>G	(Likely) benign	2 labs	9f71a8186d
X:22051091 PHEX C>T	X	22051091	22051091	C	T	PHEX	c.-33C>T	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22051091C>T	(Likely) benign	2 labs	9f7fe1f71f
5:142779720 NR3C1 C>T	5	142779720	142779720	C	T	NR3C1	c.685G>A	NM_001018077.1	NP_001018087.1:p.(Ala229Thr)	NC_000005.9:g.142779720C>T	(Likely) benign	2 labs	9f881a954a
18:55342086 ATP8B1 C>T	18	55342086	55342086	C	T	ATP8B1	c.1799G>A	NM_005603.6	NP_005594.2:p.(Arg600Gln)	NC_000018.9:g.55342086C>T	(Likely) pathogenic	2 labs	9faf2953f8
12:52188378 SCN8A T>C	12	52188378	52188378	T	C	SCN8A	c.4748T>C	NM_014191.4	NP_055006.1:p.(Ile1583Thr)	NC_000012.11:g.52188378T>C	(Likely) benign	4 labs	9fb5f8d95f
X:107925082 COL4A5 G>T	X	107925082	107925082	G	T	COL4A5	c.4162G>T	NM_000495.5	NP_000486.1:p.(Gly1388Cys)	NC_000023.10:g.107925082G>T	(Likely) pathogenic	2 labs	9fc98035df
4:77100807 SCARB2 T>C	4	77100807	77100807	T	C	SCARB2	c.475A>G	NM_005506.4	NP_005497.1:p.(Met159Val)	NC_000004.11:g.77100807T>C	(Likely) benign	2 labs	9fd5b0ae46
X:18665423 RS1 C>T	X	18665423	18665423	C	T	RS1	c.214G>A	NM_000330.4	NP_000321.1:p.(Glu72Lys)	NC_000023.10:g.18665423C>T	(Likely) pathogenic	4 labs	d476ffe2a2
15:63356322 TPM1 C>G	15	63356322	63356322	C	G	TPM1	c.832C>G	NM_000366.6	NP_000357.3:p.(Leu278Val)	NC_000015.9:g.63356322C>G	VUS	2 labs	9fdf23b552
10:88659788 BMPR1A G>A	10	88659788	88659788	G	A	BMPR1A	c.435G>A	NM_004329.3	NP_004320.2:p.(Pro145=)	NC_000010.10:g.88659788G>A	(Likely) benign	4 labs	9fd723d829
12:103246593 PAH G>A	12	103246593	103246593	G	A	PAH	c.842C>T	NM_000277.3	NP_000268.1:p.(Pro281Leu)	NC_000012.11:g.103246593G>A	(Likely) pathogenic	3 labs	a00450459d
16:15797971 MYH11 G>A	16	15797971	15797971	G	A	MYH11	c.5817C>T	NM_001040114.1	NP_001035203.1:p.(Asn1939=)	NC_000016.9:g.15797971G>A	(Likely) benign	2 labs	a004da6fdc
2:48026852 MSH6 G>A	2	48026852	48026852	G	A	MSH6	c.1730G>A	NM_000179.2	NP_000170.1:p.(Arg577His)	NC_000002.11:g.48026852G>A	VUS	2 labs	a02669d024
20:60887268 LAMA5 G>A	20	60887268	60887268	G	A	LAMA5	c.9465C>T	NM_005560.6	NP_005551.3:p.(Ser3155=)	NC_000020.10:g.60887268G>A	(Likely) benign	2 labs	a040df4ac4
20:31998098 SNTA1 G>A	20	31998098	31998098	G	A	SNTA1	c.1080C>T	NM_003098.2	NP_003089.1:p.(Tyr360=)	NC_000020.10:g.31998098G>A	(Likely) benign	2 labs	a0650d62bc
12:114837364 TBX5 T>C	12	114837364	114837364	T	C	TBX5	c.316A>G	NM_000192.3	NP_000183.2:p.(Ile106Val)	NC_000012.11:g.114837364T>C	(Likely) benign	3 labs	a07d56c634
9:138678255 KCNT1 G>A	9	138678255	138678255	G	A	KCNT1	c.3390G>A	NM_020822.3	NP_065873.2:p.(Ala1130=)	NC_000009.11:g.138678255G>A	(Likely) benign	2 labs	a0849a003e
3:132437998 NPHP3 G>C	3	132437998	132437998	G	C	NPHP3	c.520-10C>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132437998G>C	(Likely) benign	2 labs	a0865a9e89
2:227924852 COL4A4 C>T	2	227924852	227924852	C	T	COL4A4	c.2164G>A	NM_000092.4	NP_000083.3:p.(Gly722Ser)	NC_000002.11:g.227924852C>T	(Likely) pathogenic	2 labs	a095e2ed88
9:103054655 INVS A>G	9	103054655	103054655	A	G	INVS	c.2116A>G	NM_014425.5	NP_055240.2:p.(Arg706Gly)	NC_000009.11:g.103054655A>G	(Likely) benign	2 labs	a0aafcfa76
2:179444734 TTN C>T	2	179444734	179444734	C	T	TTN	c.67280G>A	NM_001267550.2	NP_001254479.2:p.(Arg22427Gln)	NC_000002.11:g.179444734C>T	VUS	2 labs	a0bd6dfa51
13:32918697 BRCA2 G>A	13	32918697	32918697	G	A	BRCA2	c.6844G>A	NM_000059.4	NP_000050.3:p.(Glu2282Lys)	NC_000013.10:g.32918697G>A	VUS	2 labs	d4a100ef65
20:61980991 CHRNA4 T>C	20	61980991	61980991	T	C	CHRNA4	c.1758+14A>G	NM_000744.7	NP_000735.1:p.?	NC_000020.10:g.61980991T>C	(Likely) benign	2 labs	a1140cf48e
11:108114661 ATM A>AT	11	108114661	108114676	A	AT	ATM	c.497-4dup	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108114676dup	(Likely) benign	5 labs	d4a1502259
16:2141184 PKD1 G>T	16	2141184	2141184	G	T	PKD1	c.11713-9C>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2141184G>T	(Likely) benign	2 labs	a1367ba078
16:2140689 PKD1 G>A	16	2140689	2140689	G	A	PKD1	c.12124C>T	NM_001009944.2	NP_001009944.2:p.(Gln4042Ter)	NC_000016.9:g.2140689G>A	(Likely) pathogenic	2 labs	a14bd32964
13:32936875 BRCA2 G>C	13	32936875	32936875	G	C	BRCA2	c.7976+45G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936875G>C	(Likely) benign	3 labs	a15509d19f
9:77415284 TRPM6 A>C	9	77415284	77415284	A	C	TRPM6	c.2124T>G	NM_017662.5	NP_060132.3:p.(Leu708=)	NC_000009.11:g.77415284A>C	(Likely) benign	2 labs	d4a3065f99
17:48265495 COL1A1 T>C	17	48265495	48265495	T	C	COL1A1	c.3223=	NM_000088.4	NP_000079.2:p.(Ala1075=)	NC_000017.10:g.48265495T>C	(Likely) benign	2 labs	a184fbee05
16:15838971 MYH11 G>C	16	15838971	15838971	G	C	MYH11	c.2541+15C>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15838971G>C	(Likely) benign	2 labs	a1a16630b8
2:152483510 NEB G>A	2	152483510	152483510	G	A	NEB	c.10347+6C>T	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152483510G>A	(Likely) benign	2 labs	a1c7c2fb77
12:76740149 BBS10 G>A	12	76740149	76740149	G	A	BBS10	c.1616C>T	NM_024685.4	NP_078961.3:p.(Pro539Leu)	NC_000012.11:g.76740149G>A	(Likely) benign	3 labs	a1f582ed19
15:35083508 ACTC1 T>TCACA	15	35083508	35083554	T	TCACA	ACTC1	c.809-16_809-13dup	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083551_35083554dup	(Likely) benign	3 labs	a1fa28d67f
22:51064043 ARSA G>A	22	51064043	51064043	G	A	ARSA	c.1174C>T	NM_000487.6	NP_000478.3:p.(Arg392Trp)	NC_000022.10:g.51064043G>A	(Likely) pathogenic	2 labs	a232b8f748
12:13716674 GRIN2B G>A	12	13716674	13716674	G	A	GRIN2B	c.3498C>T	NM_000834.5	NP_000825.2:p.(Ser1166=)	NC_000012.11:g.13716674G>A	(Likely) benign	2 labs	a24ed2f5ce
2:227898189 COL4A4 C>T	2	227898189	227898189	C	T	COL4A4	c.3514G>A	NM_000092.4	NP_000083.3:p.(Gly1172Arg)	NC_000002.11:g.227898189C>T	(Likely) pathogenic	2 labs	a24ef7fc9a
13:52585419 ATP7B T>A	13	52585419	52585419	T	A	ATP7B	c.51+4A>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52585419T>A	(Likely) pathogenic	2 labs	a26e2e17b7
16:2161728 PKD1 TAGA>T	16	2161728	2161733	TAGA	T	PKD1	c.3437_3439del	NM_001009944.3	NP_001009944.3:p.(Phe1146del)	NC_000016.9:g.2161731_2161733del	VUS	2 labs	a27b266074
6:51523739 PKHD1 T>C	6	51523739	51523739	T	C	PKHD1	c.11174+11A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51523739T>C	(Likely) benign	2 labs	a27ed0539a
5:178581797 ADAMTS2 C>T	5	178581797	178581797	C	T	ADAMTS2	c.1238+18G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178581797C>T	(Likely) benign	2 labs	d4a6761afb
6:7580668 DSP T>G	6	7580668	7580668	T	G	DSP	c.4245T>G	NM_004415.2	NP_004406.2:p.(Thr1415=)	NC_000006.11:g.7580668T>G	(Likely) benign	2 labs	a29789d7bc
19:39077216 RYR1 G>C	19	39077216	39077216	G	C	RYR1	c.15021G>C	NM_000540.2	NP_000531.2:p.(Gln5007His)	NC_000019.9:g.39077216G>C	VUS	2 labs	a2a3954016
20:30407387 MYLK2 G>A	20	30407387	30407387	G	A	MYLK2	c.4G>A	NM_033118.3	NP_149109.1:p.(Ala2Thr)	NC_000020.10:g.30407387G>A	(Likely) benign	2 labs	a2a89f9c5f
4:110685721 CFI CG>C	4	110685721	110685722	CG	C	CFI	c.453del	NM_000204.5	NP_000195.3:p.(Asn151LysfsTer26)	NC_000004.11:g.110685722del	(Likely) pathogenic	2 labs	a2ab1cd133
19:36546015 WDR62 C>T	19	36546015	36546015	C	T	WDR62				NC_000019.9:g.36546015C>T	(Likely) benign	3 labs	d4ac0e7ea6
20:62038277 KCNQ2 T>G	20	62038277	62038277	T	G	KCNQ2	c.2339A>C	NM_172107.4	NP_742105.1:p.(Asn780Thr)	NC_000020.10:g.62038277T>G	(Likely) benign	4 labs	d4acf02e30
1:237824262 RYR2 C>T	1	237824262	237824262	C	T	RYR2	c.8436+15C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237824262C>T	(Likely) benign	2 labs	a2c2c3bc5c
1:115252178 NRAS G>A	1	115252178	115252178	G	A	NRAS	c.450+12C>T	NM_002524.5	NP_002515.1:p.?	NC_000001.10:g.115252178G>A	(Likely) benign	2 labs	a2c9580abe
2:48025765 MSH6 G>A	2	48025765	48025765	G	A	MSH6	c.643G>A	NM_000179.2	NP_000170.1:p.(Val215Ile)	NC_000002.11:g.48025765G>A	(Likely) benign	2 labs	a2eb074b02
2:169828535 ABCB11 C>T	2	169828535	169828535	C	T	ABCB11	c.1460G>A	NM_003742.4	NP_003733.2:p.(Arg487His)	NC_000002.11:g.169828535C>T	(Likely) pathogenic	2 labs	a30cfdbdaf
2:179484453 TTN C>T	2	179484453	179484453	C	T	TTN	c.19771G>A	NM_133432.3	NP_597676.3:p.(Gly6591Arg)	NC_000002.11:g.179484453C>T	VUS	2 labs	a31b76ffe1
12:102079418 MYBPC1 G>A	12	102079418	102079418	G	A	MYBPC1	c.3378G>A	NM_001254723.2	NP_001241652.1:p.(Ser1126=)	NC_000012.11:g.102079418G>A	(Likely) benign	3 labs	d4be4a21a7
1:43803807 MPL G>T	1	43803807	43803807	G	T	MPL	c.117G>T	NM_005373.2	NP_005364.1:p.(Lys39Asn)	NC_000001.10:g.43803807G>T	(Likely) benign	2 labs	a34182e22d
17:12899902 ELAC2 C>T	17	12899902	12899902	C	T	ELAC2	c.1621G>A	NM_018127.7	NP_060597.4:p.(Ala541Thr)	NC_000017.10:g.12899902C>T	(Likely) benign	2 labs	a366ebcd55
8:144808747 SACK1H G>A	8	144808747	144808747	G	A	SACK1H	c.2884C>T	NM_198488.5	NP_940890.4:p.(Leu962=)	NC_000008.10:g.144808747G>A	(Likely) benign	2 labs	a3a3e960e3
16:2160866 PKD1 G>A	16	2160866	2160866	G	A	PKD1	c.4302C>T	NM_001009944.2	NP_001009944.2:p.(Ile1434=)	NC_000016.9:g.2160866G>A	(Likely) benign	2 labs	a39b83f307
5:176825069 SLC34A1 C>T	5	176825069	176825069	C	T	SLC34A1	c.1702C>T	NM_003052.5	NP_003043.3:p.(His568Tyr)	NC_000005.9:g.176825069C>T	(Likely) benign	2 labs	a3a8e299b7
15:25219613 SNRPN A>G	15	25219613	25219613	A	G	SNRPN	c.3+10A>G	NM_022807.5	NP_073718.1:p.?	NC_000015.9:g.25219613A>G	(Likely) benign	2 labs	a39b7c1dd2
1:154544534 CHRNB2 G>A	1	154544534	154544534	G	A	CHRNB2	c.1235G>A	NM_000748.3	NP_000739.1:p.(Gly412Asp)	NC_000001.10:g.154544534G>A	(Likely) benign	2 labs	a3ca15e887
16:2161097 PKD1 C>A	16	2161097	2161097	C	A	PKD1	c.4071G>T	NM_001009944.2	NP_001009944.2:p.(Leu1357=)	NC_000016.9:g.2161097C>A	(Likely) benign	3 labs	a3d281acae
1:158618455 SPTA1 G>A	1	158618455	158618455	G	A	SPTA1	c.3570-12C>T	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158618455G>A	(Likely) benign	2 labs	a3e5eff404
11:22257780 ANO5 G>T	11	22257780	22257780	G	T	ANO5	c.720G>T	NM_213599.3	NP_998764.1:p.(Leu240=)	NC_000011.9:g.22257780G>T	(Likely) benign	2 labs	d4c7549258
10:48414092 GDF2 T>C	10	48414092	48414092	T	C	GDF2	c.776A>G	NM_016204.4	NP_057288.1:p.(Asn259Ser)	NC_000010.10:g.48414092T>C	(Likely) benign	3 labs	a41103d006
20:8755243 PLCB1 T>C	20	8755243	8755243	T	C	PLCB1	c.2988T>C	NM_182734.3	NP_877398.1:p.(Ala996=)	NC_000020.10:g.8755243T>C	(Likely) benign	2 labs	a41ad13b38
13:35517099 NBEA G>A	13	35517099	35517099	G	A	NBEA	c.142G>A	NM_015678.4	NP_056493.3:p.(Ala48Thr)	NC_000013.10:g.35517099G>A	(Likely) benign	2 labs	a42541db89
9:133756065 ABL1 T>C	9	133756065	133756065	T	C	ABL1	c.1678+14T>C	NM_005157.6	NP_005148.2:p.?	NC_000009.11:g.133756065T>C	(Likely) benign	2 labs	a432b2c000
14:58734218 PSMA3 C>T	14	58734218	58734218	C	T	PSMA3	c.570C>T	NM_002788.4	NP_002779.1:p.(Ile190=)	NC_000014.8:g.58734218C>T	(Likely) benign	2 labs	a443e09991
2:170177382 LRP2 G>A	2	170177382	170177382	G	A	LRP2	c.92C>T	NM_004525.3	NP_004516.2:p.(Ala31Val)	NC_000002.11:g.170177382G>A	(Likely) benign	2 labs	da2756860d
16:2153379 PKD1 G>C	16	2153379	2153379	G	C	PKD1	c.8679C>G	NM_001009944.2	NP_001009944.2:p.(Ser2893=)	NC_000016.9:g.2153379G>C	(Likely) benign	2 labs	a445d51b12
9:137620501 COL5A1 G>A	9	137620501	137620501	G	A	COL5A1	c.787-15G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620501G>A	(Likely) benign	2 labs	a44dbe5956
9:131367651 SPTAN1 G>A	9	131367651	131367651	G	A	SPTAN1	c.3941G>A	NM_001130438.2	NP_001123910.1:p.(Cys1314Tyr)	NC_000009.11:g.131367651G>A	(Likely) benign	2 labs	a4684dc770
1:228407265 OBSCN G>A	1	228407265	228407265	G	A	OBSCN	c.2894G>A	NM_001271223.2	NP_001258152.2:p.(Arg965Lys)	NC_000001.10:g.228407265G>A	(Likely) benign	2 labs	a471cab7e2
4:981646 IDUA C>T	4	981646	981646	C	T	IDUA	c.208C>T	NM_000203.5	NP_000194.2:p.(Gln70Ter)	NC_000004.11:g.981646C>T	(Likely) pathogenic	6 labs	d4cf20051f
16:20359831 UMOD C>T	16	20359831	20359831	C	T	UMOD	c.792G>A	NM_003361.3	NP_003352.2:p.(Val264=)	NC_000016.9:g.20359831C>T	(Likely) benign	2 labs	a4a3c4ce21
19:7607741 PNPLA6 C>T	19	7607741	7607741	C	T	PNPLA6	c.1484C>T	NM_001166111.2	NP_001159583.1:p.(Pro495Leu)	NC_000019.9:g.7607741C>T	(Likely) benign	3 labs	a4ae205061
16:16263662 ABCC6 G>T	16	16263662	16263662	G	T	ABCC6	c.2836C>A	NM_001171.6	NP_001162.5:p.(Leu946Ile)	NC_000016.9:g.16263662G>T	(Likely) benign	4 labs	a4c7e4194b
2:166201144 SCN2A T>C	2	166201144	166201144	T	C	SCN2A	c.2642T>C	NM_021007.3	NP_066287.2:p.(Leu881Pro)	NC_000002.11:g.166201144T>C	(Likely) pathogenic	2 labs	a4e55d146c
3:9985130 CRELD1 G>A	3	9985130	9985130	G	A	CRELD1	c.979G>A	NM_001374318.1	NP_001361247.1:p.(Gly327Ser)	NC_000003.11:g.9985130G>A	(Likely) benign	2 labs	a4e68dd6d3
18:29078229 DSG2 G>C	18	29078229	29078229	G	C	DSG2	c.15G>C	NM_001943.5	NP_001934.2:p.(Pro5=)	NC_000018.9:g.29078229G>C	(Likely) benign	2 labs	a50fc81e20
2:136873411 CXCR4 G>A	2	136873411	136873411	G	A	CXCR4	c.99C>T	NM_001008540.2	NP_001008540.1:p.(Phe33=)	NC_000002.11:g.136873411G>A	(Likely) benign	2 labs	a52a641a08
18:32455370 DTNA G>A	18	32455370	32455370	G	A	DTNA	c.1663+8G>A	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32455370G>A	(Likely) benign	3 labs	a52d34c424
12:114793297 TBX5 T>C	12	114793297	114793297	T	C	TBX5	c.*40A>G	NM_181486.4	NP_852259.1:p.?	NC_000012.11:g.114793297T>C	(Likely) benign	2 labs	a54a2648f7
1:201334426 TNNT2 G>A	1	201334426	201334426	G	A	TNNT2	c.274C>T	NM_001001430.3	NP_001001430.1:p.(Arg92Trp)	NC_000001.10:g.201334426G>A	(Likely) pathogenic	3 labs	a5571869ad
15:73615601 HCN4 G>T	15	73615601	73615601	G	T	HCN4	c.2833C>A	NM_005477.3	NP_005468.1:p.(Pro945Thr)	NC_000015.9:g.73615601G>T	(Likely) benign	2 labs	a55cb6933b
7:150648929 KCNH2 G>A	7	150648929	150648929	G	A	KCNH2	c.1558-6C>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150648929G>A	(Likely) benign	2 labs	a55e41db7a
12:66909389 GRIP1 C>T	12	66909389	66909389	C	T	GRIP1	c.724+10G>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66909389C>T	(Likely) benign	2 labs	a56ed59ccd
10:21104651 NEBL C>T	10	21104651	21104651	C	T	NEBL	c.2149-5G>A	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21104651C>T	(Likely) benign	2 labs	a575a27ed1
10:26356015 MYO3A A>G	10	26356015	26356015	A	G	MYO3A	c.1053+12A>G	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26356015A>G	(Likely) benign	2 labs	d4e7f999f5
14:35182348 CFL2 GA>G	14	35182348	35182360	GA	G	CFL2	c.312-7del	NM_138638.5	NP_619579.1:p.?	NC_000014.8:g.35182360del	(Likely) benign	2 labs	a58d085e17
3:38938526 SCN11A G>A	3	38938526	38938526	G	A	SCN11A	c.2213C>T	NM_014139.3	NP_054858.2:p.(Pro738Leu)	NC_000003.11:g.38938526G>A	(Likely) benign	2 labs	a58bcaaf53
8:118832020 EXT1 G>A	8	118832020	118832020	G	A	EXT1	c.1431C>T	NM_000127.3	NP_000118.2:p.(Pro477=)	NC_000008.10:g.118832020G>A	(Likely) benign	2 labs	a585999cf2
15:72063462 THSD4 CATGACT>C	15	72063462	72063468	CATGACT	C	THSD4	c.2830_2835del	NM_024817.2	NP_079093.2:p.(Met944_Thr945del)	NC_000015.9:g.72063463_72063468del	(Likely) benign	2 labs	a590bf556a
16:57950057 CNGB1 G>A	16	57950057	57950057	G	A	CNGB1	c.2193C>T	NM_001297.5	NP_001288.3:p.(Asn731=)	NC_000016.9:g.57950057G>A	(Likely) benign	2 labs	d4eb1aedf6
2:46583279 EPAS1 C>G	2	46583279	46583279	C	G	EPAS1	c.218-11C>G	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583279C>G	(Likely) benign	2 labs	a5bb5f1c43
16:2152472 PKD1 C>T	16	2152472	2152472	C	T	PKD1	c.9111G>A	NM_001009944.2	NP_001009944.2:p.(Ser3037=)	NC_000016.9:g.2152472C>T	(Likely) benign	2 labs	a5c67308d1
12:6458350 SCNN1A A>G	12	6458350	6458350	A	G	SCNN1A	c.1654T>C	NM_001159576.2	NP_001153048.1:p.(Trp552Arg)	NC_000012.11:g.6458350A>G	(Likely) benign	3 labs	a5e6623840
1:55518418 PCSK9 C>T	1	55518418	55518418	C	T	PCSK9	c.753C>T	NM_174936.4	NP_777596.2:p.(Arg251=)	NC_000001.10:g.55518418C>T	(Likely) benign	2 labs	d4ecb8ebd1
17:44068850 MAPT G>A	17	44068850	44068850	G	A	MAPT	c.1405G>A	NM_001123066.4	NP_001116538.2:p.(Ala469Thr)	NC_000017.10:g.44068850G>A	(Likely) benign	3 labs	a5f6df0142
6:112460955 LAMA4 G>A	6	112460955	112460955	G	A	LAMA4	c.3109C>T	NM_001105206.3	NP_001098676.2:p.(Arg1037Ter)	NC_000006.11:g.112460955G>A	VUS	2 labs	a6025ec44e
12:121437382 HNF1A A>G	12	121437382	121437382	A	G	HNF1A	c.1720A>G	NM_000545.8	NP_000536.6:p.(Ser574Gly)	NC_000012.11:g.121437382A>G	(Likely) benign	2 labs	a623dd2b93
12:98927036 TMPO A>G	12	98927036	98927036	A	G	TMPO	c.1001A>G	NM_003276.2	NP_003267.1:p.(Lys334Arg)	NC_000012.11:g.98927036A>G	VUS	2 labs	a634bdfe27
X:70442845 GJB1 G>A	X	70442845	70442845	G	A	GJB1	c.-16-697G>A	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442845G>A	(Likely) benign	2 labs	a6429c57da
15:90191752 KIF7 C>A	15	90191752	90191752	C	A	KIF7	c.1177G>T	NM_198525.3	NP_940927.2:p.(Gly393Cys)	NC_000015.9:g.90191752C>A	(Likely) benign	2 labs	a645a3b272
7:87056176 ABCB4 T>C	7	87056176	87056176	T	C	ABCB4	c.1954A>G	NM_000443.4	NP_000434.1:p.(Arg652Gly)	NC_000007.13:g.87056176T>C	(Likely) benign	3 labs	a6566e0ced
9:140707552 EHMT1 G>A	9	140707552	140707552	G	A	EHMT1	c.2962G>A	NM_024757.5	NP_079033.4:p.(Ala988Thr)	NC_000009.11:g.140707552G>A	(Likely) benign	2 labs	d50223a552
4:88973269 PKD2 AACAATATAGCTGCTGTC>A	4	88973269	88973289	AACAATATAGCTGCTGTC	A	PKD2	c.1679_1695del	NM_000297.4	NP_000288.1:p.(Asn560SerfsTer7)	NC_000004.11:g.88973273_88973289del	(Likely) pathogenic	2 labs	a672232f81
1:116927468 ATP1A1 T>C	1	116927468	116927468	T	C	ATP1A1	c.183+4T>C	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116927468T>C	(Likely) benign	2 labs	a6657459be
1:158655036 SPTA1 G>A	1	158655036	158655036	G	A	SPTA1	c.126C>T	NM_003126.4	NP_003117.2:p.(Val42=)	NC_000001.10:g.158655036G>A	(Likely) benign	2 labs	a6895ff161
7:116436022 MET G>A	7	116436022	116436022	G	A	MET	c.4071G>A	NM_001127500.3	NP_001120972.1:p.(Ala1357=)	NC_000007.13:g.116436022G>A	(Likely) benign	3 labs	a6959a3f9d
1:158648205 SPTA1 T>C	1	158648205	158648205	T	C	SPTA1	c.798A>G	NM_003126.4	NP_003117.2:p.(Leu266=)	NC_000001.10:g.158648205T>C	(Likely) benign	2 labs	a67d064834
9:111642460 ELP1 T>C	9	111642460	111642460	T	C	ELP1	c.3347-15A>G	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111642460T>C	(Likely) benign	2 labs	a682a2d486
20:23028464 THBD C>G	20	23028464	23028464	C	G	THBD	c.1678G>C	NM_000361.2	NP_000352.1:p.(Glu560Gln)	NC_000020.10:g.23028464C>G	VUS	2 labs	a6af8a4b2f
4:88986959 PKD2 C>A	4	88986959	88986959	C	A	PKD2	c.2286C>A	NM_000297.4	NP_000288.1:p.(Tyr762Ter)	NC_000004.11:g.88986959C>A	(Likely) pathogenic	3 labs	a6a2b03412
12:103238137 PAH G>C	12	103238137	103238137	G	C	PAH	c.1042C>G	NM_000277.3	NP_000268.1:p.(Leu348Val)	NC_000012.11:g.103238137G>C	(Likely) pathogenic	4 labs	a6bf2811d1
9:712727 KANK1 C>A	9	712727	712727	C	A	KANK1	c.1961C>A	NM_015158.4	NP_055973.2:p.(Ala654Asp)	NC_000009.11:g.712727C>A	(Likely) benign	2 labs	a6d4df3a75
17:41245543 BRCA1 T>C	17	41245543	41245543	T	C	BRCA1	c.2005A>G	NM_007294.4	NP_009225.1:p.(Met669Val)	NC_000017.10:g.41245543T>C	(Likely) benign	2 labs	d504fda928
16:23646234 PALB2 C>A	16	23646234	23646234	C	A	PALB2	c.1633G>T	NM_024675.3	NP_078951.2:p.(Glu545Ter)	NC_000016.9:g.23646234C>A	(Likely) pathogenic	3 labs	a6e6489929
5:138653280 MATR3 G>A	5	138653280	138653280	G	A	MATR3	c.1183-5G>A	NM_199189.2	NP_954659.1:p.?	NC_000005.9:g.138653280G>A	(Likely) benign	2 labs	a6fc3ee41c
18:29175210 TTR C>A	18	29175210	29175210	C	A	TTR	c.328C>A	NM_000371.4	NP_000362.1:p.(His110Asn)	NC_000018.9:g.29175210C>A	(Likely) benign	5 labs	a71543dbb6
11:6648772 DCHS1 G>A	11	6648772	6648772	G	A	DCHS1	c.5498C>T	NM_003737.4	NP_003728.1:p.(Pro1833Leu)	NC_000011.9:g.6648772G>A	VUS	2 labs	a718ebaa67
2:233404771 CHRNG G>A	2	233404771	233404771	G	A	CHRNG	c.125G>A	NM_005199.5	NP_005190.4:p.(Arg42Gln)	NC_000002.11:g.233404771G>A	(Likely) benign	2 labs	a737d92786
17:73738809 ITGB4 C>T	17	73738809	73738809	C	T	ITGB4	c.2929C>T	NM_000213.5	NP_000204.3:p.(Arg977Cys)	NC_000017.10:g.73738809C>T	(Likely) benign	2 labs	a76430c5cd
17:42338945 SLC4A1 T>C	17	42338945	42338945	T	C	SLC4A1	c.166A>G	NM_000342.4	NP_000333.1:p.(Lys56Glu)	NC_000017.10:g.42338945T>C	(Likely) benign	2 labs	a778812f11
20:42747229 JPH2 C>T	20	42747229	42747229	C	T	JPH2	c.1204G>A	NM_020433.5	NP_065166.2:p.(Glu402Lys)	NC_000020.10:g.42747229C>T	(Likely) benign	4 labs	a782463954
2:179640811 TTN A>C	2	179640811	179640811	A	C	TTN	c.5642T>G	NM_133432.3	NP_597676.3:p.(Leu1881Arg)	NC_000002.11:g.179640811A>C	VUS	2 labs	a7af0a5763
19:11213463 LDLR G>A	19	11213463	11213463	G	A	LDLR	c.313+1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213463G>A	(Likely) pathogenic	3 labs	d51390bf71
11:31815575 PAX6 G>A	11	31815575	31815575	G	A	PAX6	c.357+5C>T	NM_001310160.2	NP_001297089.1:p.?	NC_000011.9:g.31815575G>A	(Likely) benign	2 labs	d5157161bb
5:156016339 SGCD G>A	5	156016339	156016339	G	A	SGCD	c.382+11G>A	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.156016339G>A	(Likely) benign	2 labs	a7c87007a3
4:996258 IDUA C>T	4	996258	996258	C	T	IDUA	c.1174C>T	NM_000203.5	NP_000194.2:p.(Leu392=)	NC_000004.11:g.996258C>T	(Likely) benign	3 labs	d5157eddc7
2:167056226 SCN9A A>G	2	167056226	167056226	A	G	SCN9A	c.4890T>C	NM_002977.3	NP_002968.1:p.(Leu1630=)	NC_000002.11:g.167056226A>G	(Likely) benign	3 labs	a7bdea1ace
13:32929478 BRCA2 C>T	13	32929478	32929478	C	T	BRCA2	c.7435+53C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32929478C>T	(Likely) benign	4 labs	a7c419ffee
11:6650886 DCHS1 A>AC	11	6650886	6650893	A	AC	DCHS1	c.5035+16dup	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6650893dup	(Likely) benign	2 labs	a7f6ab2790
2:179412312 TTN T>TTCAACTATG	2	179412312	179412322	T	TTCAACTATG	TTN	c.94032_94040dup	NM_001267550.2	NP_001254479.2:p.(Val31346_Glu31347insAspIleVal)	NC_000002.11:g.179412314_179412322dup	VUS	3 labs	a838952ddf
9:120475248 TLR4 G>A	9	120475248	120475248	G	A	TLR4	c.842G>A	NM_138554.5	NP_612564.1:p.(Cys281Tyr)	NC_000009.11:g.120475248G>A	VUS	2 labs	a849e163ee
1:196977807 CFHR5 T>A	1	196977807	196977807	T	A	CFHR5	c.1704T>A	NM_030787.3	NP_110414.1:p.(Cys568Ter)	NC_000001.10:g.196977807T>A	(Likely) benign	2 labs	a8390b5a65
6:135726105 AHI1 C>T	6	135726105	135726105	C	T	AHI1	c.2972G>A	NM_001134831.2	NP_001128303.1:p.(Arg991His)	NC_000006.11:g.135726105C>T	(Likely) benign	3 labs	a82f1c608c
8:65527669 CYP7B1 C>T	8	65527669	65527669	C	T	CYP7B1	c.971G>A	NM_004820.5	NP_004811.1:p.(Arg324His)	NC_000008.10:g.65527669C>T	(Likely) benign	2 labs	a8704cb6dd
1:64089432 PGM1 G>A	1	64089432	64089432	G	A	PGM1	c.300+1G>A	NM_001172818.1	NP_001166289.1:p.?	NC_000001.10:g.64089432G>A	(Likely) benign	2 labs	a870a081f4
3:38595746 SCN5A C>T	3	38595746	38595746	C	T	SCN5A	c.4813+24G>A	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38595746C>T	(Likely) benign	2 labs	a8745617ac
3:164793758 SI C>A	3	164793758	164793758	C	A	SI	c.43G>T	NM_001041.4	NP_001032.2:p.(Val15Phe)	NC_000003.11:g.164793758C>A	(Likely) benign	2 labs	d520377a51
4:108853107 CYP2U1 C>T	4	108853107	108853107	C	T	CYP2U1	c.308C>T	NM_183075.3	NP_898898.1:p.(Pro103Leu)	NC_000004.11:g.108853107C>T	(Likely) benign	2 labs	a88fd31db4
1:196642290 CFH C>T	1	196642290	196642290	C	T	CFH	c.241C>T	NM_000186.3	NP_000177.2:p.(Gln81Ter)	NC_000001.10:g.196642290C>T	(Likely) pathogenic	2 labs	a89654c5a8
17:62049215 SCN4A G>T	17	62049215	62049215	G	T	SCN4A	c.483-5C>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62049215G>T	(Likely) benign	3 labs	a8a4c4286d
8:2077127 MYOM2 C>T	8	2077127	2077127	C	T	MYOM2	c.3707C>T	NM_003970.4	NP_003961.3:p.(Ser1236Leu)	NC_000008.10:g.2077127C>T	(Likely) benign	2 labs	a8c34a0d69
2:166769021 TTC21B T>C	2	166769021	166769021	T	C	TTC21B	c.2322+3A>G	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166769021T>C	(Likely) benign	2 labs	a8bc26db91
17:56283088 MKS1 AC>A	17	56283088	56283089	AC	A	MKS1	c.*351del	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56283089del	(Likely) benign	2 labs	a8b8b53dcf
22:32218727 DEPDC5 C>A	22	32218727	32218727	C	A	DEPDC5	c.2055C>A	NM_001242896.3	NP_001229825.1:p.(Phe685Leu)	NC_000022.10:g.32218727C>A	(Likely) benign	2 labs	a8d90791d2
10:112581547 RBM20 G>A	10	112581547	112581547	G	A	RBM20	c.3170G>A	NM_001134363.3	NP_001127835.2:p.(Arg1057Gln)	NC_000010.10:g.112581547G>A	(Likely) benign	6 labs	d5294c696b
21:33036248 SOD1 ATAAACAG>A	21	33036248	33036257	ATAAACAG	A	SOD1	c.169+52_169+58del	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33036251_33036257del	(Likely) benign	2 labs	a8e34907cd
19:55449464 NLRP7 G>A	19	55449464	55449464	G	A	NLRP7	c.2077C>T	NM_001127255.1	NP_001120727.1:p.(Arg693Trp)	NC_000019.9:g.55449464G>A	(Likely) pathogenic	2 labs	a8ec714040
3:129155915 MBD4 G>A	3	129155915	129155915	G	A	MBD4	c.572C>T	NM_003925.3	NP_003916.1:p.(Pro191Leu)	NC_000003.11:g.129155915G>A	(Likely) benign	2 labs	d52a6cb553
2:179465823 TTN G>A	2	179465823	179465823	G	A	TTN	c.55808C>T	NM_001267550.1	NP_001254479.1:p.(Pro18603Leu)	NC_000002.11:g.179465823G>A	VUS	3 labs	a8f4385dad
2:27444109 CAD C>T	2	27444109	27444109	C	T	CAD	c.246C>T	NM_004341.5	NP_004332.2:p.(His82=)	NC_000002.11:g.27444109C>T	(Likely) benign	2 labs	a8f70bd752
11:47359086 MYBPC3 G>A	11	47359086	47359086	G	A	MYBPC3	c.2458C>T	NM_000256.3	NP_000247.2:p.(Arg820Trp)	NC_000011.9:g.47359086G>A	(Likely) pathogenic	3 labs	a914cf86da
11:47359334 MYBPC3 C>T	11	47359334	47359334	C	T	MYBPC3	c.2320G>A	NM_000256.3	NP_000247.2:p.(Ala774Thr)	NC_000011.9:g.47359334C>T	VUS	3 labs	d53175a941
19:38958397 RYR1 G>A	19	38958397	38958397	G	A	RYR1	c.3326G>A	NM_000540.3	NP_000531.2:p.(Arg1109Lys)	NC_000019.9:g.38958397G>A	(Likely) benign	3 labs	a92ccfc930
10:75830733 VCL G>A	10	75830733	75830733	G	A	VCL	c.391G>A	NM_014000.3	NP_054706.1:p.(Val131Ile)	NC_000010.10:g.75830733G>A	VUS	2 labs	a949c00fda
15:63363402 TPM1 G>A	15	63363402	63363402	G	A	TPM1	c.*31G>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63363402G>A	(Likely) benign	2 labs	a9583a5cd7
12:116421180 MED13L G>A	12	116421180	116421180	G	A	MED13L	c.4697C>T	NM_015335.4	NP_056150.1:p.(Ser1566Leu)	NC_000012.11:g.116421180G>A	(Likely) benign	3 labs	a96a343bb0
13:32912035 BRCA2 ATT>A	13	32912035	32912038	ATT	A	BRCA2	c.3545_3546del	NM_000059.4	NP_000050.3:p.(Phe1182Ter)	NC_000013.10:g.32912037_32912038del	(Likely) pathogenic	2 labs	a9afe86344
X:107826150 COL4A5 G>A	X	107826150	107826150	G	A	COL4A5	c.973G>A	NM_000495.5	NP_000486.1:p.(Gly325Arg)	NC_000023.10:g.107826150G>A	(Likely) pathogenic	2 labs	a9f9390eb9
2:166895930 SCN1A T>A	2	166895930	166895930	T	A	SCN1A	c.2589+3A>T	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166895930T>A	(Likely) pathogenic	3 labs	aa0baefb40
1:184023529 TSEN15 A>C	1	184023529	184023529	A	C	TSEN15	c.177A>C	NM_001300764.2	NP_001287693.1:p.(Gln59His)	NC_000001.10:g.184023529A>C	(Likely) benign	2 labs	d53e8ee3b4
12:6101040 VWF C>T	12	6101040	6101040	C	T	VWF	c.6743G>A	NM_000552.4	NP_000543.2:p.(Cys2248Tyr)	NC_000012.11:g.6101040C>T	(Likely) pathogenic	2 labs	aa10d9b7b0
1:3328932 PRDM16 C>T	1	3328932	3328932	C	T	PRDM16	c.2171C>T	NM_022114.4	NP_071397.3:p.(Ala724Val)	NC_000001.10:g.3328932C>T	(Likely) benign	2 labs	aa19700874
15:67457330 SMAD3 G>A	15	67457330	67457330	G	A	SMAD3	c.304G>A	NM_005902.3	NP_005893.1:p.(Glu102Lys)	NC_000015.9:g.67457330G>A	VUS	2 labs	aa28f48c5e
13:32914126 BRCA2 C>T	13	32914126	32914126	C	T	BRCA2	c.5634C>T	NM_000059.4	NP_000050.3:p.(Asn1878=)	NC_000013.10:g.32914126C>T	(Likely) benign	2 labs	aa01752053
4:88996768 PKD2 C>T	4	88996768	88996768	C	T	PKD2	c.2829C>T	NM_000297.4	NP_000288.1:p.(Ser943=)	NC_000004.11:g.88996768C>T	(Likely) benign	2 labs	aa2c23a730
2:109381821 RANBP2 A>T	2	109381821	109381821	A	T	RANBP2	c.4826A>T	NM_006267.5	NP_006258.3:p.(Gln1609Leu)	NC_000002.11:g.109381821A>T	(Likely) benign	3 labs	aa42071f44
11:823729 PNPLA2 C>T	11	823729	823729	C	T	PNPLA2	c.793C>T	NM_020376.4	NP_065109.1:p.(Pro265Ser)	NC_000011.9:g.823729C>T	(Likely) benign	2 labs	aa6151818c
2:48026687 MSH6 A>G	2	48026687	48026687	A	G	MSH6	c.1565A>G	NM_000179.3	NP_000170.1:p.(Gln522Arg)	NC_000002.11:g.48026687A>G	VUS	2 labs	abf9516cbd
9:6588403 GLDC C>T	9	6588403	6588403	C	T	GLDC	c.1705G>A	NM_000170.3	NP_000161.2:p.(Ala569Thr)	NC_000009.11:g.6588403C>T	(Likely) benign	3 labs	aa6f8103f1
1:196709816 CFH G>T	1	196709816	196709816	G	T	CFH	c.2850G>T	NM_000186.4	NP_000177.2:p.(Gln950His)	NC_000001.10:g.196709816G>T	(Likely) benign	3 labs	aa8b62db9c
2:109384848 RANBP2 A>G	2	109384848	109384848	A	G	RANBP2	c.7849+4A>G	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109384848A>G	(Likely) benign	2 labs	aa9008d6ec
9:124089678 GSN C>T	9	124089678	124089678	C	T	GSN	c.1833C>T	NM_000177.5	NP_000168.1:p.(Ser611=)	NC_000009.11:g.124089678C>T	(Likely) benign	2 labs	aa91f6452b
7:81695857 CACNA2D1 A>AG	7	81695857	81695858	A	AG	CACNA2D1	c.659-18_659-17insC	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695857_81695858insG	(Likely) benign	2 labs	aa82d52e20
1:196871732 CFHR4 G>A	1	196871732	196871732	G	A	CFHR4	c.243G>A	NM_001201550.3	NP_001188479.1:p.(Thr81=)	NC_000001.10:g.196871732G>A	(Likely) benign	2 labs	aab37eb33d
9:124091256 GSN G>T	9	124091256	124091256	G	T	GSN	c.2003G>T	NM_000177.5	NP_000168.1:p.(Arg668Leu)	NC_000009.11:g.124091256G>T	(Likely) benign	2 labs	aad29d9fb9
2:179403941 TTN G>T	2	179403941	179403941	G	T	TTN	c.98721C>A	NM_001267550.2	NP_001254479.2:p.(Leu32907=)	NC_000002.11:g.179403941G>T	(Likely) benign	3 labs	d55e32de88
19:55441902 NLRP7 T>C	19	55441902	55441902	T	C	NLRP7	c.2775A>G	NM_001127255.1	NP_001120727.1:p.(Ala925=)	NC_000019.9:g.55441902T>C	(Likely) benign	2 labs	aaeb886efd
5:127727814 FBN2 A>C	5	127727814	127727814	A	C	FBN2	c.1500T>G	NM_001999.4	NP_001990.2:p.(His500Gln)	NC_000005.9:g.127727814A>C	(Likely) benign	2 labs	aaf36a5d82
9:126135490 CRB2 G>A	9	126135490	126135490	G	A	CRB2	c.2680G>A	NM_173689.7	NP_775960.4:p.(Gly894Ser)	NC_000009.11:g.126135490G>A	(Likely) benign	2 labs	aafa0cd420
19:36340506 NPHS1 A>C	19	36340506	36340506	A	C	NPHS1	c.658T>G	NM_004646.3	NP_004637.1:p.(Ser220Ala)	NC_000019.9:g.36340506A>C	VUS	3 labs	ab0972c458
15:91548289 VPS33B C>T	15	91548289	91548289	C	T	VPS33B	c.1166G>A	NM_018668.5	NP_061138.3:p.(Arg389Gln)	NC_000015.9:g.91548289C>T	(Likely) benign	2 labs	ab25de4d64
17:63554591 AXIN2 G>A	17	63554591	63554591	G	A	AXIN2	c.148C>T	NM_004655.4	NP_004646.3:p.(Pro50Ser)	NC_000017.10:g.63554591G>A	(Likely) benign	2 labs	ab30672174
17:78091405 GAA G>A	17	78091405	78091405	G	A	GAA	c.2338G>A	NM_000152.5	NP_000143.2:p.(Val780Ile)	NC_000017.10:g.78091405G>A	(Likely) benign	3 labs	ab53034423
4:3076603 HTT CCAGCAGCAGCAG>C	4	3076603	3076662	CCAGCAGCAGCAG	C	HTT	c.99_116del	NM_002111.8	NP_002102.4:p.(Gln35_Gln40del)	NC_000004.11:g.3076651_3076662del	(Likely) benign	2 labs	ab7b4f5b56
1:236902652 ACTN2 C>T	1	236902652	236902652	C	T	ACTN2	c.927C>T	NM_001103.4	NP_001094.1:p.(Pro309=)	NC_000001.10:g.236902652C>T	(Likely) benign	2 labs	d56e0e11d8
2:238287357 COL6A3 C>T	2	238287357	238287357	C	T	COL6A3	c.2419G>A	NM_004369.4	NP_004360.2:p.(Ala807Thr)	NC_000002.11:g.238287357C>T	(Likely) benign	3 labs	ab78739153
3:129234449 IFT122 C>T	3	129234449	129234449	C	T	IFT122	c.3418+7C>T	NM_052985.4	NP_443711.2:p.?	NC_000003.11:g.129234449C>T	(Likely) benign	2 labs	ab84283b76
2:232123768 ARMC9 T>C	2	232123768	232123768	T	C	ARMC9	c.979T>C	NM_025139.6	NP_079415.4:p.(Leu327=)	NC_000002.11:g.232123768T>C	(Likely) benign	2 labs	ab90f1f3ba
6:7579933 DSP G>A	6	7579933	7579933	G	A	DSP	c.3510G>A	NM_004415.4	NP_004406.2:p.(Glu1170=)	NC_000006.11:g.7579933G>A	(Likely) benign	5 labs	d570da494a
10:43617416 RET T>C	10	43617416	43617416	T	C	RET	c.2753T>C	NM_020975.6	NP_066124.1:p.(Met918Thr)	NC_000010.10:g.43617416T>C	(Likely) pathogenic	2 labs	abab4f5973
17:59926645 BRIP1 C>T	17	59926645	59926645	C	T	BRIP1	c.380-28G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59926645C>T	(Likely) benign	2 labs	abd2a8bea3
16:2141025 PKD1 G>A	16	2141025	2141025	G	A	PKD1	c.11863C>T	NM_001009944.2	NP_001009944.2:p.(Gln3955Ter)	NC_000016.9:g.2141025G>A	(Likely) pathogenic	2 labs	abdc9f3592
X:44879848 KDM6A C>T	X	44879848	44879848	C	T	KDM6A	c.444-7C>T	NM_021140.3	NP_066963.2:p.?	NC_000023.10:g.44879848C>T	(Likely) benign	2 labs	abf0f04fb6
1:237955434 RYR2 G>A	1	237955434	237955434	G	A	RYR2	c.13593G>A	NM_001035.3	NP_001026.2:p.(Lys4531=)	NC_000001.10:g.237955434G>A	(Likely) benign	2 labs	abf792f64e
12:116429545 MED13L C>T	12	116429545	116429545	C	T	MED13L	c.3214G>A	NM_015335.4	NP_056150.1:p.(Val1072Ile)	NC_000012.11:g.116429545C>T	(Likely) benign	2 labs	ac15a32624
11:118350957 KMT2A G>A	11	118350957	118350957	G	A	KMT2A	c.3634+4G>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118350957G>A	(Likely) benign	2 labs	ac2e5c4772
8:68089943 CSPP1 A>G	8	68089943	68089943	A	G	CSPP1	c.3123A>G	NM_024790.6	NP_079066.5:p.(Lys1041=)	NC_000008.10:g.68089943A>G	(Likely) benign	2 labs	ac287153d1
4:663908 PDE6B A>G	4	663908	663908	A	G	PDE6B	c.*12A>G	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.663908A>G	(Likely) benign	2 labs	d57714cf15
3:9514938 SETD5 C>T	3	9514938	9514938	C	T	SETD5	c.3214C>T	NM_001080517.3	NP_001073986.1:p.(Arg1072Ter)	NC_000003.11:g.9514938C>T	(Likely) pathogenic	2 labs	ac4fdbcde7
11:68704028 IGHMBP2 C>T	11	68704028	68704028	C	T	IGHMBP2	c.2080C>T	NM_002180.3	NP_002171.2:p.(Arg694Trp)	NC_000011.9:g.68704028C>T	(Likely) benign	2 labs	d582a0be3c
6:31828335 NEU1 C>T	6	31828335	31828335	C	T	NEU1	c.679G>A	NM_000434.4	NP_000425.1:p.(Gly227Arg)	NC_000006.11:g.31828335C>T	(Likely) pathogenic	2 labs	ac5ce3d092
22:45683246 UPK3A C>T	22	45683246	45683246	C	T	UPK3A	c.402C>T	NM_006953.4	NP_008884.1:p.(Val134=)	NC_000022.10:g.45683246C>T	(Likely) benign	2 labs	ac888df5ce
9:132576512 TOR1A G>T	9	132576512	132576512	G	T	TOR1A	c.749-11C>A	NM_000113.3	NP_000104.1:p.?	NC_000009.11:g.132576512G>T	(Likely) benign	2 labs	ac9d88487b
2:179416475 TTN A>T	2	179416475	179416475	A	T	TTN	c.91152T>A	NM_001267550.2	NP_001254479.2:p.(Tyr30384Ter)	NC_000002.11:g.179416475A>T	(Likely) pathogenic	2 labs	acbf4ef587
2:73717656 ALMS1 A>G	2	73717656	73717656	A	G	ALMS1	c.8573A>G	NM_015120.4	NP_055935.4:p.(Asn2858Ser)	NC_000002.11:g.73717656A>G	(Likely) benign	2 labs	d58736b5db
8:143996314 CYP11B2 T>C	8	143996314	143996314	T	C	CYP11B2	c.606A>G	NM_000498.3	NP_000489.3:p.(Leu202=)	NC_000008.10:g.143996314T>C	(Likely) benign	2 labs	acc68f16e1
2:220422686 OBSL1 C>T	2	220422686	220422686	C	T	OBSL1	c.3649G>A	NM_015311.3	NP_056126.1:p.(Glu1217Lys)	NC_000002.11:g.220422686C>T	(Likely) benign	2 labs	ace37ff2e1
10:71055448 HK1 A>AT	10	71055448	71055459	A	AT	HK1	c.-67+23dup	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71055459dup	(Likely) benign	2 labs	acccc1e857
18:47455923 MYO5B C>T	18	47455923	47455923	C	T	MYO5B	c.2049G>A	NM_001080467.3	NP_001073936.1:p.(Val683=)	NC_000018.9:g.47455923C>T	(Likely) benign	2 labs	ad2235fcb7
16:2164324 PKD1 C>T	16	2164324	2164324	C	T	PKD1	c.2700G>A	NM_000296.4	NP_000287.4:p.(Pro900=)	NC_000016.9:g.2164324C>T	(Likely) benign	2 labs	ad475f3e2f
21:46309312 ITGB2 G>A	21	46309312	46309312	G	A	ITGB2	c.1756C>T	NM_000211.5	NP_000202.3:p.(Arg586Trp)	NC_000021.8:g.46309312G>A	(Likely) benign	3 labs	ad4a7b699c
X:23018493 DDX53 G>T	X	23018493	23018493	G	T	DDX53	c.319G>T	NM_182699.4	NP_874358.2:p.(Ala107Ser)	NC_000023.10:g.23018493G>T	(Likely) benign	2 labs	ad5409dbbe
1:45974478 MMACHC G>C	1	45974478	45974478	G	C	MMACHC	c.440G>C	NM_015506.3	NP_056321.2:p.(Gly147Ala)	NC_000001.10:g.45974478G>C	(Likely) pathogenic	5 labs	ada50f3fb9
X:32509559 DMD T>G	X	32509559	32509559	T	G	DMD	c.2457A>C	NM_004006.3	NP_003997.2:p.(Leu819=)	NC_000023.10:g.32509559T>G	(Likely) benign	6 labs	d59b158d92
1:156108563 LMNA C>CT	1	156108563	156108566	C	CT	LMNA	c.1968+18dup	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156108566dup	(Likely) benign	2 labs	adabb9e894
13:40229891 COG6 G>A	13	40229891	40229891	G	A	COG6	c.28G>A	NM_001145079.2	NP_001138551.1:p.(Ala10Thr)	NC_000013.10:g.40229891G>A	(Likely) benign	2 labs	adae85c700
8:143957129 CYP11B1 G>T	8	143957129	143957129	G	T	CYP11B1	c.1120C>A	NM_000497.3	NP_000488.3:p.(Arg374=)	NC_000008.10:g.143957129G>T	(Likely) benign	2 labs	adb4d89777
22:51019001 CHKB T>G	22	51019001	51019001	T	G	CHKB	c.670A>C	NM_005198.4	NP_005189.2:p.(Asn224His)	NC_000022.10:g.51019001T>G	(Likely) benign	2 labs	adea27dcaa
10:79397263 KCNMA1 A>AGAG	10	79397263	79397286	A	AGAG	KCNMA1	c.135_137dup	NM_001322830.2	NP_001309759.1:p.(Ser60dup)	NC_000010.10:g.79397284_79397286dup	(Likely) benign	2 labs	ae239f1bb3
17:44071294 MAPT T>C	17	44071294	44071294	T	C	MAPT	c.1512T>C	NM_001123066.4	NP_001116538.2:p.(Thr504=)	NC_000017.10:g.44071294T>C	(Likely) benign	2 labs	ae1f63ca9f
1:158597507 SPTA1 G>C	1	158597507	158597507	G	C	SPTA1	c.5572C>G	NM_003126.4	NP_003117.2:p.(Leu1858Val)	NC_000001.10:g.158597507G>C	(Likely) benign	2 labs	ae3f84e56e
X:70352687 MED12 G>T	X	70352687	70352687	G	T	MED12	c.4416-8G>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352687G>T	(Likely) benign	2 labs	ae396c44f0
6:51612575 PKHD1 A>C	6	51612575	51612575	A	C	PKHD1	c.9829+10T>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51612575A>C	(Likely) benign	2 labs	ae40537c34
7:150671846 KCNH2 A>G	7	150671846	150671846	A	G	KCNH2	c.260T>C	NM_000238.4	NP_000229.1:p.(Leu87Pro)	NC_000007.13:g.150671846A>G	(Likely) pathogenic	2 labs	ae296f98f9
21:45712290 AIRE G>A	21	45712290	45712290	G	A	AIRE				NC_000021.8:g.45712290G>A	(Likely) benign	2 labs	ae4b9c5560
13:32900715 BRCA2 C>T	13	32900715	32900715	C	T	BRCA2	c.596C>T	NM_000059.3	NP_000050.2:p.(Ala199Val)	NC_000013.10:g.32900715C>T	VUS	2 labs	ae561a8d9e
X:153297719 MECP2 G>A	X	153297719	153297719	G	A	MECP2	c.316C>T	NM_004992.3	NP_004983.1:p.(Arg106Trp)	NC_000023.10:g.153297719G>A	(Likely) pathogenic	2 labs	ae886b8e99
14:23859415 MYH6 G>A	14	23859415	23859415	G	A	MYH6	c.3583C>T	NM_002471.3	NP_002462.2:p.(Arg1195Cys)	NC_000014.8:g.23859415G>A	VUS	2 labs	ae942513ac
9:399255 DOCK8 G>A	9	399255	399255	G	A	DOCK8	c.3230G>A	NM_203447.3	NP_982272.2:p.(Ser1077Asn)	NC_000009.11:g.399255G>A	(Likely) benign	2 labs	ae9bb00681
1:237619875 RYR2 A>AT	1	237619875	237619889	A	AT	RYR2	c.1477-11dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237619889dup	(Likely) benign	2 labs	d5ab98ff76
5:40981768 C7 CCTT>C	5	40981768	40981776	CCTT	C	C7	c.*99_*101del	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40981774_40981776del	(Likely) benign	2 labs	aec9b25a2e
X:20195208 RPS6KA3 T>C	X	20195208	20195208	T	C	RPS6KA3	c.846-6A>G	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20195208T>C	(Likely) benign	2 labs	aef713032c
4:155507965 FGA G>C	4	155507965	155507965	G	C	FGA	c.616C>G	NM_021871.4	NP_068657.1:p.(Gln206Glu)	NC_000004.11:g.155507965G>C	VUS	3 labs	af34b30b32
9:77339565 TRPM6 C>T	9	77339565	77339565	C	T	TRPM6	c.6033G>A	NM_017662.5	NP_060132.3:p.(Thr2011=)	NC_000009.11:g.77339565C>T	(Likely) benign	2 labs	af3b97b719
5:230980 SDHA A>G	5	230980	230980	A	G	SDHA	c.771-11A>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.230980A>G	(Likely) benign	2 labs	d5be0939cd
5:89979871 ADGRV1 G>A	5	89979871	89979871	G	A	ADGRV1	c.6133G>A	NM_032119.4	NP_115495.3:p.(Gly2045Arg)	NC_000005.9:g.89979871G>A	(Likely) benign	4 labs	d5c07c11ad
1:92712598 GLMN GAA>G	1	92712598	92712602	GAA	G	GLMN	c.1668+19_1668+20del	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92712601_92712602del	(Likely) benign	2 labs	d5c6879d05
2:220286055 DES C>G	2	220286055	220286055	C	G	DES	c.1024-7C>G	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220286055C>G	(Likely) benign	2 labs	af85ea7e3a
12:27840420 PPFIBP1 C>T	12	27840420	27840420	C	T	PPFIBP1	c.1909C>T	NM_001198915.2	NP_001185844.1:p.(Arg637Trp)	NC_000012.11:g.27840420C>T	(Likely) benign	2 labs	af9b0b9e74
17:78320925 RNF213 G>A	17	78320925	78320925	G	A	RNF213	c.8790G>A	NM_001256071.3	NP_001243000.2:p.(Gly2930=)	NC_000017.10:g.78320925G>A	(Likely) benign	2 labs	afcc8d4168
16:89590168 SPG7 T>TATCTC	16	89590168	89590170	T	TATCTC	SPG7	c.377-245_377-244insTCTCA	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590169_89590170insTCTCA	(Likely) benign	2 labs	afc59fe12a
X:18602452 CDKL5 G>A	X	18602452	18602452	G	A	CDKL5	c.533G>A	NM_001037343.1	NP_001032420.1:p.(Arg178Gln)	NC_000023.10:g.18602452G>A	(Likely) pathogenic	2 labs	afdc311235
12:114837349 TBX5 C>A	12	114837349	114837349	C	A	TBX5	c.331G>T	NM_000192.3	NP_000183.2:p.(Asp111Tyr)	NC_000012.11:g.114837349C>A	(Likely) benign	2 labs	afe79dfe5d
1:155260350 PKLR A>G	1	155260350	155260350	A	G	PKLR	c.*13T>C	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155260350A>G	(Likely) benign	2 labs	affcd0ea66
2:179457258 TTN C>G	2	179457258	179457258	C	G	TTN	c.32654G>C	NM_133432.3	NP_597676.3:p.(Arg10885Thr)	NC_000002.11:g.179457258C>G	(Likely) benign	2 labs	aff2fb8cf2
15:77323566 PSTPIP1 G>A	15	77323566	77323566	G	A	PSTPIP1	c.688G>A	NM_003978.3	NP_003969.2:p.(Ala230Thr)	NC_000015.9:g.77323566G>A	(Likely) pathogenic	2 labs	affdc324d0
4:114279690 ANK2 G>A	4	114279690	114279690	G	A	ANK2	c.9916G>A	NM_001148.4	NP_001139.3:p.(Val3306Ile)	NC_000004.11:g.114279690G>A	(Likely) benign	2 labs	b003566ff3
4:15601322 CC2D2A A>T	4	15601322	15601322	A	T	CC2D2A	c.4667A>T	NM_001080522.2	NP_001073991.2:p.(Asp1556Val)	NC_000004.11:g.15601322A>T	(Likely) pathogenic	2 labs	b006a2b494
16:1574794 IFT140 AT>A	16	1574794	1574796	AT	A	IFT140	c.2987del	NM_014714.4	NP_055529.2:p.(Asn996MetfsTer8)	NC_000016.9:g.1574796del	(Likely) pathogenic	2 labs	b027691567
1:237604723 RYR2 A>G	1	237604723	237604723	A	G	RYR2	c.1110A>G	NM_001035.3	NP_001026.2:p.(Leu370=)	NC_000001.10:g.237604723A>G	(Likely) benign	2 labs	b03f65a9a0
1:113162500 CAPZA1 G>A	1	113162500	113162500	G	A	CAPZA1	c.34G>A	NM_006135.3	NP_006126.1:p.(Glu12Lys)	NC_000001.10:g.113162500G>A	(Likely) benign	2 labs	b083b84c08
19:11210962 LDLR G>A	19	11210962	11210962	G	A	LDLR	c.131G>A	NM_000527.5	NP_000518.1:p.(Trp44Ter)	NC_000019.9:g.11210962G>A	(Likely) pathogenic	2 labs	d5d451c7fb
2:88882942 EIF2AK3 T>A	2	88882942	88882942	T	A	EIF2AK3	c.1763+6A>T	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88882942T>A	(Likely) benign	3 labs	d5d98d9018
12:103232994 PAH C>A	12	103232994	103232994	C	A	PAH	c.1318G>T	NM_000277.3	NP_000268.1:p.(Glu440Ter)	NC_000012.11:g.103232994C>A	(Likely) pathogenic	2 labs	b0b162aef2
18:12377036 AFG3L2 G>A	18	12377036	12377036	G	A	AFG3L2	c.46C>T	NM_006796.2	NP_006787.2:p.(Pro16Ser)	NC_000018.9:g.12377036G>A	VUS	2 labs	b0b427768e
17:33477062 UNC45B G>A	17	33477062	33477062	G	A	UNC45B	c.206-5G>A	NM_173167.3	NP_775259.1:p.?	NC_000017.10:g.33477062G>A	(Likely) benign	2 labs	b0e540ed78
9:130592079 ENG G>A	9	130592079	130592079	G	A	ENG	c.247C>T	NM_000118.3	NP_000109.1:p.(Gln83Ter)	NC_000009.11:g.130592079G>A	(Likely) pathogenic	2 labs	b0f8b68d12
7:45115581 CCM2 G>A	7	45115581	45115581	G	A	CCM2	c.1383G>A	NM_001363458.2	NP_001350387.1:p.(Glu461=)	NC_000007.13:g.45115581G>A	(Likely) benign	3 labs	b0ea701d95
16:2138218 TSC2 A>C	16	2138218	2138218	A	C	TSC2	c.5161-10A>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138218A>C	(Likely) benign	3 labs	b11a6e6c84
16:354314 AXIN1 C>T	16	354314	354314	C	T	AXIN1	c.1244G>A	NM_003502.4	NP_003493.1:p.(Arg415His)	NC_000016.9:g.354314C>T	VUS	2 labs	d5e0768ff8
16:2152825 PKD1 TGAA>T	16	2152825	2152832	TGAA	T	PKD1	c.8935_8937del	NM_001009944.3	NP_001009944.3:p.(Phe2979del)	NC_000016.9:g.2152830_2152832del	(Likely) pathogenic	2 labs	b12f376b04
11:46880592 LRP4 G>C	11	46880592	46880592	G	C	LRP4	c.5660C>G	NM_002334.3	NP_002325.2:p.(Ser1887Cys)	NC_000011.9:g.46880592G>C	(Likely) benign	2 labs	b135f08e54
17:56436044 RNF43 C>T	17	56436044	56436044	C	T	RNF43	c.1093G>A	NM_017763.6	NP_060233.3:p.(Ala365Thr)	NC_000017.10:g.56436044C>T	(Likely) benign	3 labs	b116e6a112
2:179417573 TTN G>A	2	179417573	179417573	G	A	TTN	c.85131C>T	NM_001256850.1	NP_001243779.1:p.(Pro28377=)	NC_000002.11:g.179417573G>A	(Likely) benign	2 labs	d5e148740c
22:29095854 CHEK2 T>C	22	29095854	29095854	T	C	CHEK2	c.980A>G	NM_007194.4	NP_009125.1:p.(Tyr327Cys)	NC_000022.10:g.29095854T>C	VUS	5 labs	d5e14a58e4
11:47354869 MYBPC3 G>C	11	47354869	47354869	G	C	MYBPC3	c.3206C>G	NM_000256.3	NP_000247.2:p.(Pro1069Arg)	NC_000011.9:g.47354869G>C	(Likely) pathogenic	2 labs	d5ed399f0e
2:166848898 SCN1A G>A	2	166848898	166848898	G	A	SCN1A	c.4887C>T	NM_001202435.3	NP_001189364.1:p.(Phe1629=)	NC_000002.11:g.166848898G>A	(Likely) benign	2 labs	b18f55ed64
11:108158320 ATM C>T	11	108158320	108158320	C	T	ATM	c.3994-7C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158320C>T	(Likely) benign	3 labs	b199efa366
21:35821903 KCNE1 C>T	21	35821903	35821903	C	T	KCNE1				NC_000021.8:g.35821903C>T	(Likely) benign	2 labs	b1a33078bb
9:6554781 GLDC C>A	9	6554781	6554781	C	A	GLDC	c.2203G>T	NM_000170.3	NP_000161.2:p.(Val735Leu)	NC_000009.11:g.6554781C>A	(Likely) benign	2 labs	b1c696c419
16:8905030 PMM2 G>A	16	8905030	8905030	G	A	PMM2	c.442G>A	NM_000303.3	NP_000294.1:p.(Asp148Asn)	NC_000016.9:g.8905030G>A	(Likely) pathogenic	2 labs	b1a941af85
15:44955823 SPG11 G>C	15	44955823	44955823	G	C	SPG11	c.23C>G	NM_025137.4	NP_079413.3:p.(Ala8Gly)	NC_000015.9:g.44955823G>C	(Likely) benign	2 labs	b1aa72904c
17:68171393 KCNJ2 C>T	17	68171393	68171393	C	T	KCNJ2	c.213C>T	NM_000891.3	NP_000882.1:p.(Asp71=)	NC_000017.10:g.68171393C>T	(Likely) benign	2 labs	b1be32ef5d
14:105185117 INF2 TTC>T	14	105185117	105185126	TTC	T	INF2	c.3695-7_3695-6del	NM_001031714.4	NP_001026884.3:p.?	NC_000014.8:g.105185125_105185126del	(Likely) benign	2 labs	b1c21635e8
18:21124907 NPC1 A>ACC	18	21124907	21124916	A	ACC	NPC1	c.1947+15_1947+16dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124915_21124916dup	(Likely) benign	3 labs	b1df3f802d
2:179424113 TTN AATAG>A	2	179424113	179424121	AATAG	A	TTN	c.86742_86745del	NM_001267550.2	NP_001254479.2:p.(Tyr28915ThrfsTer22)	NC_000002.11:g.179424118_179424121del	(Likely) pathogenic	3 labs	d5f0e6434f
1:247588687 NLRP3 G>T	1	247588687	247588687	G	T	NLRP3	c.1936G>T	NM_001243133.2	NP_001230062.1:p.(Asp646Tyr)	NC_000001.10:g.247588687G>T	VUS	2 labs	b20a8529ad
6:32014101 TNXB G>A	6	32014101	32014101	G	A	TNXB	c.10451C>T	NM_019105.8	NP_061978.6:p.(Thr3484Met)	NC_000006.11:g.32014101G>A	(Likely) benign	2 labs	b20b504c9b
9:98718278 ERCC6L2 C>T	9	98718278	98718278	C	T	ERCC6L2	c.1930C>T	NM_020207.7	NP_064592.3:p.(Arg644Ter)	NC_000009.11:g.98718278C>T	(Likely) pathogenic	2 labs	b3c3df91c9
16:15818128 MYH11 C>G	16	15818128	15818128	C	G	MYH11	c.4276G>C	NM_001040113.2	NP_001035202.1:p.(Glu1426Gln)	NC_000016.9:g.15818128C>G	VUS	2 labs	b25851a886
15:25616052 UBE3A G>A	15	25616052	25616052	G	A	UBE3A	c.1278C>T	NM_000462.5	NP_000453.2:p.(Asp426=)	NC_000015.9:g.25616052G>A	(Likely) benign	2 labs	b27b7cb26c
1:94568627 ABCA4 C>T	1	94568627	94568627	C	T	ABCA4	c.514G>A	NM_000350.3	NP_000341.2:p.(Gly172Ser)	NC_000001.10:g.94568627C>T	VUS	5 labs	d5f3300fa2
5:178634672 ADAMTS2 C>T	5	178634672	178634672	C	T	ADAMTS2	c.733G>A	NM_014244.5	NP_055059.2:p.(Val245Ile)	NC_000005.9:g.178634672C>T	(Likely) benign	2 labs	d5f3e2c35d
22:51154099 SHANK3 ATTGT>A	22	51154099	51154106	ATTGT	A	SHANK3	c.2497_2500del	NM_001372044.2	NP_001358973.1:p.(Phe833AsnfsTer25)	NC_000022.10:g.51154103_51154106del	(Likely) pathogenic	2 labs	b2bda55eb3
12:2714846 CACNA1C A>G	12	2714846	2714846	A	G	CACNA1C	c.3110A>G	NM_199460.4	NP_955630.3:p.(His1037Arg)	NC_000012.11:g.2714846A>G	VUS	2 labs	b2ae7393c3
X:153581011 FLNA C>A	X	153581011	153581011	C	A	FLNA	c.6412G>T	NM_001110556.2	NP_001104026.1:p.(Gly2138Cys)	NC_000023.10:g.153581011C>A	(Likely) benign	4 labs	b2c58e0cdd
9:3829302 GLIS3 C>G	9	3829302	3829302	C	G	GLIS3	c.2656+8G>C	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.3829302C>G	(Likely) benign	2 labs	b2e11ddd7b
X:154159625 F8 G>A	X	154159625	154159625	G	A	F8	c.2440C>T	NM_000132.3	NP_000123.1:p.(Arg814Ter)	NC_000023.10:g.154159625G>A	(Likely) pathogenic	2 labs	b2e710438d
2:179432795 TTN C>T	2	179432795	179432795	C	T	TTN	c.78064G>A	NM_001267550.1	NP_001254479.1:p.(Val26022Ile)	NC_000002.11:g.179432795C>T	(Likely) benign	2 labs	b2eeb389ef
3:64133350 PRICKLE2 A>G	3	64133350	64133350	A	G	PRICKLE2	c.816T>C	NM_198859.4	NP_942559.1:p.(Asp272=)	NC_000003.11:g.64133350A>G	(Likely) benign	2 labs	b311559cf9
12:6094784 VWF T>C	12	6094784	6094784	T	C	VWF	c.6846A>G	NM_000552.5	NP_000543.3:p.(Thr2282=)	NC_000012.11:g.6094784T>C	(Likely) benign	2 labs	d5f80ae084
6:112476905 LAMA4 C>T	6	112476905	112476905	C	T	LAMA4	c.1821G>A	NM_001105206.3	NP_001098676.2:p.(Lys607=)	NC_000006.11:g.112476905C>T	(Likely) benign	2 labs	b317c6bcd0
9:139569261 AGPAT2 T>C	9	139569261	139569261	T	C	AGPAT2	c.589-2A>G	NM_006412.4	NP_006403.2:p.?	NC_000009.11:g.139569261T>C	(Likely) pathogenic	2 labs	b313c5f91b
11:108123542 ATM A>G	11	108123542	108123542	A	G	ATM	c.1803-2A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123542A>G	(Likely) pathogenic	3 labs	b32b838c93
12:103306594 PAH A>G	12	103306594	103306594	A	G	PAH	c.143T>C	NM_000277.3	NP_000268.1:p.(Leu48Ser)	NC_000012.11:g.103306594A>G	(Likely) pathogenic	3 labs	b33170f0ec
17:61560049 ACE G>C	17	61560049	61560049	G	C	ACE	c.1341G>C	NM_000789.4	NP_000780.1:p.(Thr447=)	NC_000017.10:g.61560049G>C	(Likely) benign	2 labs	b344c1073d
6:152660377 SYNE1 G>A	6	152660377	152660377	G	A	SYNE1	c.12350C>T	NM_182961.4	NP_892006.3:p.(Thr4117Met)	NC_000006.11:g.152660377G>A	(Likely) benign	2 labs	b36be9d207
7:128494603 FLNC C>T	7	128494603	128494603	C	T	FLNC	c.6864C>T	NM_001458.5	NP_001449.3:p.(Val2288=)	NC_000007.13:g.128494603C>T	(Likely) benign	3 labs	b36d2f0a06
5:147449923 SPINK5 G>C	5	147449923	147449923	G	C	SPINK5	c.119G>C	NM_006846.3	NP_006837.2:p.(Gly40Ala)	NC_000005.9:g.147449923G>C	(Likely) benign	2 labs	b385dc8b80
15:42684923 CAPN3 A>G	15	42684923	42684923	A	G	CAPN3	c.1029+3A>G	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42684923A>G	(Likely) benign	2 labs	b38a6d74f8
1:214830526 CENPF A>C	1	214830526	214830526	A	C	CENPF	c.8736A>C	NM_016343.4	NP_057427.3:p.(Pro2912=)	NC_000001.10:g.214830526A>C	(Likely) benign	2 labs	b38ca218c8
12:7244042 C1R C>T	12	7244042	7244042	C	T	C1R	c.231+6G>A	NM_001733.7	NP_001724.4:p.?	NC_000012.11:g.7244042C>T	(Likely) benign	2 labs	b39afb5c54
17:62029014 SCN4A G>A	17	62029014	62029014	G	A	SCN4A	c.2623C>T	NM_000334.4	NP_000325.4:p.(Pro875Ser)	NC_000017.10:g.62029014G>A	(Likely) benign	2 labs	b3b1a0042d
X:24735737 POLA1 C>A	X	24735737	24735737	C	A	POLA1	c.931C>A	NM_016937.4	NP_058633.2:p.(Gln311Lys)	NC_000023.10:g.24735737C>A	VUS	2 labs	d613833b72
2:165947005 SCN3A G>A	2	165947005	165947005	G	A	SCN3A	c.5658C>T	NM_006922.4	NP_008853.3:p.(Val1886=)	NC_000002.11:g.165947005G>A	(Likely) benign	2 labs	b3bc94d7e3
9:124064452 GSN C>T	9	124064452	124064452	C	T	GSN	c.349+7C>T	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124064452C>T	(Likely) benign	2 labs	b3e2f6b1ba
10:104416782 TRIM8 C>A	10	104416782	104416782	C	A	TRIM8	c.1327C>A	NM_030912.3	NP_112174.2:p.(Pro443Thr)	NC_000010.10:g.104416782C>A	(Likely) benign	2 labs	b3e7d8c8f6
3:183885832 DVL3 A>G	3	183885832	183885832	A	G	DVL3	c.1477A>G	NM_004423.4	NP_004414.3:p.(Ile493Val)	NC_000003.11:g.183885832A>G	(Likely) benign	2 labs	b3eda26358
9:418051 DOCK8 C>T	9	418051	418051	C	T	DOCK8	c.3701-17C>T	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.418051C>T	(Likely) benign	2 labs	b4082edcba
12:111350966 MYL2 C>T	12	111350966	111350966	C	T	MYL2	c.354-18G>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111350966C>T	(Likely) benign	2 labs	b4162e43f3
17:59560687 TBX4 G>A	17	59560687	59560687	G	A	TBX4	c.1448G>A	NM_018488.3	NP_060958.2:p.(Arg483Gln)	NC_000017.10:g.59560687G>A	(Likely) benign	2 labs	b44e8855c3
6:32017767 TNXB T>C	6	32017767	32017767	T	C	TNXB	c.9433+8A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32017767T>C	(Likely) benign	2 labs	b45be489d5
7:153750121 DPP6 G>A	7	153750121	153750121	G	A	DPP6	c.216G>A	NM_130797.4	NP_570629.2:p.(Gln72=)	NC_000007.13:g.153750121G>A	(Likely) benign	2 labs	b4766fc8bb
4:79295378 FRAS1 G>A	4	79295378	79295378	G	A	FRAS1	c.3124G>A	NM_025074.7	NP_079350.5:p.(Ala1042Thr)	NC_000004.11:g.79295378G>A	(Likely) benign	2 labs	b47f1ad0f4
13:39263714 FREM2 T>C	13	39263714	39263714	T	C	FREM2	c.2233=	NM_207361.6	NP_997244.4:p.(Pro745=)	NC_000013.10:g.39263714T>C	(Likely) benign	3 labs	b481096424
6:85447124 TBX18 T>C	6	85447124	85447124	T	C	TBX18	c.1103A>G	NM_001080508.3	NP_001073977.1:p.(Asn368Ser)	NC_000006.11:g.85447124T>C	(Likely) benign	2 labs	b4870e2c12
19:36339599 NPHS1 A>G	19	36339599	36339599	A	G	NPHS1	c.1110T>C	NM_004646.3	NP_004637.1:p.(Val370=)	NC_000019.9:g.36339599A>G	(Likely) benign	2 labs	b4a336c042
11:64578113 MEN1 T>A	11	64578113	64578113	T	A	MEN1	c.-35A>T	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64578113T>A	(Likely) benign	2 labs	b4c51821ed
17:73839137 UNC13D G>A	17	73839137	73839137	G	A	UNC13D	c.279C>T	NM_199242.3	NP_954712.1:p.(Pro93=)	NC_000017.10:g.73839137G>A	(Likely) benign	2 labs	b4d058ee63
5:79950724 MSH3 G>GCCGCAGCGC	5	79950724	79950735	G	GCCGCAGCGC	MSH3	c.181_189dup	NM_002439.5	NP_002430.3:p.(Ala61_Pro63dup)	NC_000005.9:g.79950727_79950735dup	(Likely) benign	4 labs	b4e1c76c10
9:713452 KANK1 G>C	9	713452	713452	G	C	KANK1	c.2686G>C	NM_001256877.2	NP_001243806.1:p.(Gly896Arg)	NC_000009.11:g.713452G>C	(Likely) benign	2 labs	b4f0f6baf8
11:65638140 EFEMP2 C>T	11	65638140	65638140	C	T	EFEMP2	c.368-11G>A	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65638140C>T	(Likely) benign	2 labs	b4e2e76d25
15:85366567 ALPK3 A>G	15	85366567	85366567	A	G	ALPK3	c.150A>G	NM_020778.5	NP_065829.4:p.(Ser50=)	NC_000015.9:g.85366567A>G	(Likely) benign	2 labs	b4f539b1bd
4:2828992 SH3BP2 C>T	4	2828992	2828992	C	T	SH3BP2	c.548C>T	NM_001145855.2	NP_001139327.1:p.(Ala183Val)	NC_000004.11:g.2828992C>T	(Likely) benign	2 labs	b5298e9af3
7:75583325 POR A>G	7	75583325	75583325	A	G	POR	c.15A>G	NM_000941.2	NP_000932.3:p.(Gly5=)	NC_000007.13:g.75583325A>G	(Likely) benign	2 labs	b52f2413f9
11:47469421 RAPSN G>A	11	47469421	47469421	G	A	RAPSN	c.474C>T	NM_005055.5	NP_005046.2:p.(Asp158=)	NC_000011.9:g.47469421G>A	(Likely) benign	2 labs	b55d42652b
9:139333081 INPP5E C>T	9	139333081	139333081	C	T	INPP5E	c.791G>A	NM_019892.6	NP_063945.2:p.(Arg264His)	NC_000009.11:g.139333081C>T	(Likely) benign	2 labs	b546be05c3
3:100963154 IMPG2 G>A	3	100963154	100963154	G	A	IMPG2	c.2021C>T	NM_016247.4	NP_057331.2:p.(Thr674Ile)	NC_000003.11:g.100963154G>A	(Likely) benign	2 labs	d6203e911a
22:50893849 SBF1 C>G	22	50893849	50893849	C	G	SBF1	c.4369-11G>C	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50893849C>G	(Likely) benign	2 labs	b5695be1f7
2:227915735 COL4A4 A>G	2	227915735	227915735	A	G	COL4A4	c.3108T>C	NM_000092.4	NP_000083.3:p.(Gly1036=)	NC_000002.11:g.227915735A>G	(Likely) benign	2 labs	b59cfe89a8
22:29105993 CHEK2 C>G	22	29105993	29105993	C	G	CHEK2	c.846+1G>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29105993C>G	(Likely) pathogenic	3 labs	b59dc222a0
11:47369220 MYBPC3 C>T	11	47369220	47369220	C	T	MYBPC3	c.833G>A	NM_000256.3	NP_000247.2:p.(Gly278Glu)	NC_000011.9:g.47369220C>T	(Likely) benign	2 labs	b5db9e45f1
2:179449659 TTN GA>G	2	179449659	179449662	GA	G	TTN	c.64708del	NM_001267550.2	NP_001254479.2:p.(Ser21570LeufsTer3)	NC_000002.11:g.179449662del	(Likely) pathogenic	2 labs	b610ff9ef4
3:47045846 NBEAL2 C>T	3	47045846	47045846	C	T	NBEAL2	c.6161C>T	NM_015175.3	NP_055990.1:p.(Ser2054Phe)	NC_000003.11:g.47045846C>T	(Likely) benign	2 labs	d6395a0f4a
18:21141414 NPC1 C>T	18	21141414	21141414	C	T	NPC1	c.541G>A	NM_000271.5	NP_000262.2:p.(Ala181Thr)	NC_000018.9:g.21141414C>T	VUS	2 labs	d63b345c83
7:128487919 FLNC G>A	7	128487919	128487919	G	A	FLNC	c.4456+1G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487919G>A	(Likely) pathogenic	2 labs	b62849187a
13:32914782 BRCA2 C>T	13	32914782	32914782	C	T	BRCA2	c.6290C>T	NM_000059.3	NP_000050.2:p.(Thr2097Met)	NC_000013.10:g.32914782C>T	(Likely) benign	2 labs	b6278c0319
19:920642 KISS1R T>A	19	920642	920642	T	A	KISS1R	c.1091T>A	NM_032551.5	NP_115940.2:p.(Leu364His)	NC_000019.9:g.920642T>A	(Likely) benign	3 labs	b66e8fb3b7
2:179438951 TTN G>A	2	179438951	179438951	G	A	TTN	c.71908C>T	NM_001267550.2	NP_001254479.2:p.(Arg23970Trp)	NC_000002.11:g.179438951G>A	VUS	2 labs	d63ce681a7
4:110673662 CFI A>G	4	110673662	110673662	A	G	CFI	c.905-3T>C	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110673662A>G	(Likely) benign	2 labs	b667fb014a
6:32811752 PSMB8 C>T	6	32811752	32811752	C	T	PSMB8	c.22G>A	NM_148919.4	NP_683720.2:p.(Gly8Arg)	NC_000006.11:g.32811752C>T	(Likely) benign	2 labs	b66dd61a70
2:228131169 COL4A3 A>G	2	228131169	228131169	A	G	COL4A3	c.1352A>G	NM_000091.4	NP_000082.2:p.(His451Arg)	NC_000002.11:g.228131169A>G	(Likely) benign	2 labs	b675290c2a
1:235875513 LYST AATAAT>A	1	235875513	235875519	AATAAT	A	LYST	c.9785-21_9785-17del	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235875515_235875519del	(Likely) benign	2 labs	b6544e1f27
2:73678843 ALMS1 A>G	2	73678843	73678843	A	G	ALMS1	c.5192A>G	NM_015120.4	NP_055935.4:p.(Glu1731Gly)	NC_000002.11:g.73678843A>G	(Likely) benign	3 labs	b6550f4908
17:36104632 HNF1B C>T	17	36104632	36104632	C	T	HNF1B	c.244G>A	NM_000458.4	NP_000449.1:p.(Asp82Asn)	NC_000017.10:g.36104632C>T	(Likely) benign	3 labs	b6889c7e51
3:47040323 NBEAL2 C>T	3	47040323	47040323	C	T	NBEAL2	c.3338C>T	NM_015175.2	NP_055990.1:p.(Thr1113Met)	NC_000003.11:g.47040323C>T	(Likely) benign	2 labs	b694bdf027
20:741653 SLC52A3 CG>C	20	741653	741657	CG	C	SLC52A3	c.*16del	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.741657del	(Likely) benign	2 labs	b6abe326f0
5:226160 SDHA A>C	5	226160	226160	A	C	SDHA	c.619A>C	NM_004168.4	NP_004159.2:p.(Arg207=)	NC_000005.9:g.226160A>C	(Likely) benign	2 labs	b6ca6fcf2b
12:111744895 CUX2 G>A	12	111744895	111744895	G	A	CUX2	c.1029G>A	NM_015267.4	NP_056082.2:p.(Thr343=)	NC_000012.11:g.111744895G>A	(Likely) benign	2 labs	b6e3f3ef9b
7:116339672 MET C>T	7	116339672	116339672	C	T	MET	c.534C>T	NM_001127500.1	NP_001120972.1:p.(Ser178=)	NC_000007.13:g.116339672C>T	(Likely) benign	2 labs	b6eab8bc96
16:23391401 SCNN1B G>A	16	23391401	23391401	G	A	SCNN1B	c.1467-14G>A	NM_000336.3	NP_000327.2:p.?	NC_000016.9:g.23391401G>A	(Likely) benign	2 labs	b6f8064d4e
22:29095851 CHEK2 A>G	22	29095851	29095851	A	G	CHEK2	c.983T>C	NM_007194.4	NP_009125.1:p.(Phe328Ser)	NC_000022.10:g.29095851A>G	VUS	2 labs	d6461b2a05
4:88989098 PKD2 C>T	4	88989098	88989098	C	T	PKD2	c.2407C>T	NM_000297.4	NP_000288.1:p.(Arg803Ter)	NC_000004.11:g.88989098C>T	(Likely) pathogenic	3 labs	b7436c6a64
X:107939580 COL4A5 G>A	X	107939580	107939580	G	A	COL4A5	c.5030G>A	NM_000495.5	NP_000486.1:p.(Arg1677Gln)	NC_000023.10:g.107939580G>A	(Likely) pathogenic	2 labs	b74b12866c
1:100366260 AGL T>A	1	100366260	100366260	T	A	AGL	c.3431T>A	NM_000642.3	NP_000633.2:p.(Ile1144Asn)	NC_000001.10:g.100366260T>A	(Likely) benign	2 labs	b75589ca50
3:190106242 CLDN16 T>C	3	190106242	190106242	T	C	CLDN16	c.324+10T>C	NM_006580.3	NP_006571.1:p.?	NC_000003.11:g.190106242T>C	(Likely) benign	2 labs	b757895ad1
11:117691375 FXYD2 G>T	11	117691375	117691375	G	T	FXYD2	c.*6+6C>A	NM_001680.5	NP_001671.2:p.?	NC_000011.9:g.117691375G>T	(Likely) benign	2 labs	b75a83721f
21:45714294 AIRE C>T	21	45714294	45714294	C	T	AIRE	c.1411C>T	NM_000383.4	NP_000374.1:p.(Arg471Cys)	NC_000021.8:g.45714294C>T	(Likely) benign	4 labs	b762257ace
1:6532673 PLEKHG5 G>A	1	6532673	6532673	G	A	PLEKHG5	c.994C>T	NM_198681.4	NP_941374.3:p.(Arg332Trp)	NC_000001.10:g.6532673G>A	VUS	2 labs	b761b5addc
16:2140192 PKD1 G>A	16	2140192	2140192	G	A	PKD1	c.12448C>T	NM_001009944.2	NP_001009944.2:p.(Arg4150Cys)	NC_000016.9:g.2140192G>A	(Likely) pathogenic	2 labs	b77407a854
15:73660576 HCN4 G>C	15	73660576	73660576	G	C	HCN4	c.36C>G	NM_005477.3	NP_005468.1:p.(Leu12=)	NC_000015.9:g.73660576G>C	(Likely) benign	3 labs	b7765bc56f
1:17354294 SDHB G>A	1	17354294	17354294	G	A	SDHB	c.490C>T	NM_003000.2	NP_002991.2:p.(Gln164Ter)	NC_000001.10:g.17354294G>A	(Likely) pathogenic	2 labs	b78ed1a701
19:33355650 SLC7A9 C>T	19	33355650	33355650	C	T	SLC7A9	c.120G>A	NM_014270.5	NP_055085.1:p.(Val40=)	NC_000019.9:g.33355650C>T	(Likely) pathogenic	2 labs	b7a9148da6
19:39055825 RYR1 G>GCACGGCGGC	19	39055825	39055843	G	GCACGGCGGC	RYR1	c.12861_12869dup	NM_000540.2	NP_000531.2:p.(Thr4288_Ala4290dup)	NC_000019.9:g.39055835_39055843dup	(Likely) benign	2 labs	b7acc93d59
2:179428967 TTN C>T	2	179428967	179428967	C	T	TTN	c.81892G>A	NM_001267550.2	NP_001254479.2:p.(Asp27298Asn)	NC_000002.11:g.179428967C>T	(Likely) benign	5 labs	b7f98d8c17
13:32914861 BRCA2 A>C	13	32914861	32914861	A	C	BRCA2	c.6369A>C	NM_000059.4	NP_000050.3:p.(Glu2123Asp)	NC_000013.10:g.32914861A>C	(Likely) benign	4 labs	d65525c615
3:49166460 LAMB2 C>T	3	49166460	49166460	C	T	LAMB2	c.1724G>A	NM_002292.4	NP_002283.3:p.(Arg575Gln)	NC_000003.11:g.49166460C>T	(Likely) benign	2 labs	b806fd1a8d
4:103556114 MANBA A>T	4	103556114	103556114	A	T	MANBA	c.2246T>A	NM_005908.4	NP_005899.3:p.(Leu749His)	NC_000004.11:g.103556114A>T	(Likely) benign	2 labs	b83808336c
3:122003832 CASR G>C	3	122003832	122003832	G	C	CASR	c.3061G>C	NM_001178065.2	NP_001171536.2:p.(Glu1021Gln)	NC_000003.11:g.122003832G>C	(Likely) benign	3 labs	b856498fca
17:44248499 KANSL1 G>C	17	44248499	44248499	G	C	KANSL1	c.1011C>G	NM_001193466.2	NP_001180395.1:p.(Ser337=)	NC_000017.10:g.44248499G>C	(Likely) benign	2 labs	d655eb0ebc
14:58943946 KIAA0586 GACTTCTGACATTGGTAA>G	14	58943946	58943963	GACTTCTGACATTGGTAA	G	KIAA0586	c.3091_3103+4del	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58943947_58943963del	(Likely) pathogenic	2 labs	b85d813dc8
18:32459697 DTNA G>A	18	32459697	32459697	G	A	DTNA	c.1922+14G>A	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32459697G>A	(Likely) benign	2 labs	b8699127d9
20:62046278 KCNQ2 G>C	20	62046278	62046278	G	C	KCNQ2	c.1503C>G	NM_172107.4	NP_742105.1:p.(Ala501=)	NC_000020.10:g.62046278G>C	(Likely) benign	3 labs	d65bc4d09b
3:49169827 LAMB2 C>T	3	49169827	49169827	C	T	LAMB2	c.261G>A	NM_002292.4	NP_002283.3:p.(Lys87=)	NC_000003.11:g.49169827C>T	(Likely) benign	2 labs	b8cdbd154c
19:48946443 GRIN2D G>C	19	48946443	48946443	G	C	GRIN2D	c.3260G>C	NM_000836.2	NP_000827.2:p.(Gly1087Ala)	NC_000019.9:g.48946443G>C	(Likely) benign	2 labs	b8ce16cc10
20:56139224 PCK1 G>C	20	56139224	56139224	G	C	PCK1	c.962-1G>C	NM_002591.4	NP_002582.3:p.?	NC_000020.10:g.56139224G>C	(Likely) pathogenic	2 labs	b8d94267ad
X:12904292 TLR7 T>A	X	12904292	12904292	T	A	TLR7	c.665T>A	NM_016562.4	NP_057646.1:p.(Val222Asp)	NC_000023.10:g.12904292T>A	(Likely) benign	2 labs	b8db594786
2:189859318 COL3A1 C>T	2	189859318	189859318	C	T	COL3A1	c.1345C>T	NM_000090.4	NP_000081.2:p.(Arg449Cys)	NC_000002.11:g.189859318C>T	VUS	2 labs	b8ed832093
11:17801117 KCNC1 G>A	11	17801117	17801117	G	A	KCNC1	c.1619G>A	NM_001112741.1	NP_001106212.1:p.(Arg540His)	NC_000011.9:g.17801117G>A	(Likely) benign	2 labs	b8efe6bad7
6:51923404 PKHD1 G>A	6	51923404	51923404	G	A	PKHD1	c.1234-5C>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51923404G>A	(Likely) benign	2 labs	b8f2369c27
X:24521499 PDK3 A>G	X	24521499	24521499	A	G	PDK3	c.376A>G	NM_001142386.3	NP_001135858.1:p.(Met126Val)	NC_000023.10:g.24521499A>G	(Likely) benign	2 labs	b8f3c6009a
12:103306564 PAH C>G	12	103306564	103306564	C	G	PAH	c.168+5G>C	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103306564C>G	(Likely) pathogenic	2 labs	b91c8fd513
1:228557755 OBSCN G>A	1	228557755	228557755	G	A	OBSCN	c.22951G>A	NM_001271223.2	NP_001258152.2:p.(Ala7651Thr)	NC_000001.10:g.228557755G>A	(Likely) benign	2 labs	b928756c59
5:131705759 SLC22A5 A>G	5	131705759	131705759	A	G	SLC22A5	c.95A>G	NM_003060.4	NP_003051.1:p.(Asn32Ser)	NC_000005.9:g.131705759A>G	(Likely) pathogenic	2 labs	b92ae53777
10:43609103 RET G>T	10	43609103	43609103	G	T	RET	c.1859G>T	NM_020975.4	NP_066124.1:p.(Cys620Phe)	NC_000010.10:g.43609103G>T	(Likely) pathogenic	2 labs	b92d5eb5c9
2:179482726 TTN A>C	2	179482726	179482726	A	C	TTN	c.47352T>G	NM_001267550.2	NP_001254479.2:p.(Tyr15784Ter)	NC_000002.11:g.179482726A>C	(Likely) pathogenic	2 labs	b94d6a76d9
2:179412413 TTN C>T	2	179412413	179412413	C	T	TTN	c.67120G>A	NM_133432.3	NP_597676.3:p.(Gly22374Ser)	NC_000002.11:g.179412413C>T	VUS	3 labs	b9484a5272
13:32893197 BRCA2 AT>A	13	32893197	32893207	AT	A	BRCA2	c.68-7del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893207del	(Likely) benign	2 labs	b938e55c48
X:110951259 ALG13 C>G	X	110951259	110951259	C	G	ALG13	c.388C>G	NM_001099922.3	NP_001093392.1:p.(Leu130Val)	NC_000023.10:g.110951259C>G	VUS	2 labs	b96a615558
19:13419071 CACNA1A G>A	19	13419071	13419071	G	A	CACNA1A	c.1785-6C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13419071G>A	(Likely) benign	2 labs	b95e4813cd
22:19748592 TBX1 C>A	22	19748592	19748592	C	A	TBX1	c.199C>A	NM_005992.1	NP_005983.1:p.(Pro67Thr)	NC_000022.10:g.19748592C>A	(Likely) benign	2 labs	b9663e29c0
19:49692194 TRPM4 C>T	19	49692194	49692194	C	T	TRPM4	c.1874-9C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49692194C>T	(Likely) benign	2 labs	b95eda5629
3:14183197 TMEM43 C>T	3	14183197	14183197	C	T	TMEM43	c.1105C>T	NM_024334.3	NP_077310.1:p.(Leu369Phe)	NC_000003.11:g.14183197C>T	(Likely) benign	2 labs	b96df3dd20
22:29130494 CHEK2 A>C	22	29130494	29130494	A	C	CHEK2	c.216T>G	NM_007194.4	NP_009125.1:p.(Tyr72Ter)	NC_000022.10:g.29130494A>C	(Likely) pathogenic	2 labs	b97ce489ef
16:81979777 PLCG2 C>T	16	81979777	81979777	C	T	PLCG2	c.3482-3C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81979777C>T	(Likely) benign	2 labs	b98000d622
5:73985215 HEXB A>G	5	73985215	73985215	A	G	HEXB	c.362A>G	NM_000521.3	NP_000512.1:p.(Lys121Arg)	NC_000005.9:g.73985215A>G	(Likely) benign	2 labs	b998623b33
1:201058513 CACNA1S C>T	1	201058513	201058513	C	T	CACNA1S	c.773G>A	NM_000069.3	NP_000060.2:p.(Gly258Asp)	NC_000001.10:g.201058513C>T	(Likely) benign	3 labs	b99c726e16
2:179647711 TTN CA>C	2	179647711	179647712	CA	C	TTN	c.2921del	NM_001267550.2	NP_001254479.2:p.(Val974GlyfsTer18)	NC_000002.11:g.179647712del	(Likely) pathogenic	2 labs	b984e94d53
8:145743149 RECQL4 A>C	8	145743149	145743149	A	C	RECQL4	c.20T>G	NM_004260.3	NP_004251.3:p.(Val7Gly)	NC_000008.10:g.145743149A>C	(Likely) benign	2 labs	b99d60e8cf
3:78700929 ROBO1 C>T	3	78700929	78700929	C	T	ROBO1	c.2765G>A	NM_002941.4	NP_002932.1:p.(Arg922His)	NC_000003.11:g.78700929C>T	(Likely) benign	2 labs	b9a369b219
1:115222237 AMPD1 T>A	1	115222237	115222237	T	A	AMPD1	c.860A>T	NM_000036.3	NP_000027.3:p.(Lys287Ile)	NC_000001.10:g.115222237T>A	(Likely) benign	2 labs	b9c8a6b4f8
2:179399070 TTN C>T	2	179399070	179399070	C	T	TTN	c.102272G>A	NM_001267550.2	NP_001254479.2:p.(Arg34091Gln)	NC_000002.11:g.179399070C>T	VUS	2 labs	d66063fc88
16:89349676 ANKRD11 G>A	16	89349676	89349676	G	A	ANKRD11	c.3274C>T	NM_001256182.2	NP_001243111.1:p.(Pro1092Ser)	NC_000016.9:g.89349676G>A	(Likely) benign	2 labs	b9d7b0873f
7:128488850 FLNC C>A	7	128488850	128488850	C	A	FLNC	c.4741C>A	NM_001458.5	NP_001449.3:p.(Pro1581Thr)	NC_000007.13:g.128488850C>A	VUS	2 labs	ba2b9e6141
2:179408199 TTN A>G	2	179408199	179408199	A	G	TTN	c.96501T>C	NM_001267550.2	NP_001254479.2:p.(Ser32167=)	NC_000002.11:g.179408199A>G	(Likely) benign	3 labs	d665299b26
1:16378047 CLCNKB G>T	1	16378047	16378047	G	T	CLCNKB	c.1297+5G>T	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16378047G>T	(Likely) benign	2 labs	ba41591dba
1:201063063 CACNA1S G>A	1	201063063	201063063	G	A	CACNA1S	c.345C>T	NM_000069.3	NP_000060.2:p.(Asp115=)	NC_000001.10:g.201063063G>A	(Likely) benign	2 labs	ba39554840
14:23886772 MYH7 G>A	14	23886772	23886772	G	A	MYH7	c.4293C>T	NM_000257.4	NP_000248.2:p.(Asp1431=)	NC_000014.8:g.23886772G>A	(Likely) benign	3 labs	ba4cfa0b85
6:152673312 SYNE1 C>T	6	152673312	152673312	C	T	SYNE1	c.11430G>A	NM_182961.4	NP_892006.3:p.(Thr3810=)	NC_000006.11:g.152673312C>T	(Likely) benign	2 labs	ba5a7340cf
9:432330 DOCK8 C>G	9	432330	432330	C	G	DOCK8	c.4785+6C>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.432330C>G	(Likely) benign	2 labs	babdd78af7
15:23892200 MAGEL2 GGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGA>G	15	23892200	23892271	GGCCATCGGTGTACCCGGAGGGGGAGGATGAGCCATCGGTGTCCCCGGAGGTGGAGGATGA	G	MAGEL2	c.630_689del	NM_019066.5	NP_061939.3:p.(His211_Ala230del)	NC_000015.9:g.23892212_23892271del	(Likely) benign	2 labs	d672fa2c52
14:24728975 TGM1 G>C	14	24728975	24728975	G	C	TGM1	c.919C>G	NM_000359.3	NP_000350.1:p.(Arg307Gly)	NC_000014.8:g.24728975G>C	(Likely) pathogenic	2 labs	bade7e7f09
X:44935924 KDM6A C>CT	X	44935924	44935937	C	CT	KDM6A	c.2703-5dup	NM_021140.3	NP_066963.2:p.?	NC_000023.10:g.44935937dup	(Likely) benign	2 labs	baed1146ce
2:179583715 TTN G>A	2	179583715	179583715	G	A	TTN	c.24227-15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179583715G>A	(Likely) benign	3 labs	baed0d129c
17:4837204 GP1BA C>T	17	4837204	4837204	C	T	GP1BA	c.1305C>T	NM_000173.7	NP_000164.5:p.(Thr435=)	NC_000017.10:g.4837204C>T	(Likely) benign	2 labs	bb314f3149
6:32053694 TNXB C>T	6	32053694	32053694	C	T	TNXB	c.2981G>A	NM_019105.8	NP_061978.6:p.(Arg994His)	NC_000006.11:g.32053694C>T	(Likely) benign	3 labs	bb7b8a5207
16:89349513 ANKRD11 G>A	16	89349513	89349513	G	A	ANKRD11	c.3437C>T	NM_001256182.2	NP_001243111.1:p.(Thr1146Met)	NC_000016.9:g.89349513G>A	(Likely) benign	2 labs	bb991076ab
12:103246680 PAH C>T	12	103246680	103246680	C	T	PAH	c.755G>A	NM_000277.3	NP_000268.1:p.(Arg252Gln)	NC_000012.11:g.103246680C>T	(Likely) pathogenic	2 labs	bb9bedeb3b
4:79385719 FRAS1 G>A	4	79385719	79385719	G	A	FRAS1	c.7011G>A	NM_025074.7	NP_079350.5:p.(Ala2337=)	NC_000004.11:g.79385719G>A	(Likely) benign	2 labs	bb9ca9284b
3:38618259 SCN5A C>A	3	38618259	38618259	C	A	SCN5A	c.3404G>T	NM_001099404.2	NP_001092874.1:p.(Ser1135Ile)	NC_000003.11:g.38618259C>A	VUS	5 labs	d68aa63720
2:227966608 COL4A4 A>G	2	227966608	227966608	A	G	COL4A4	c.948T>C	NM_000092.4	NP_000083.3:p.(Tyr316=)	NC_000002.11:g.227966608A>G	(Likely) benign	2 labs	bbaa16ba3f
22:29885075 NEFH G>A	22	29885075	29885075	G	A	NEFH	c.1446G>A	NM_021076.4	NP_066554.2:p.(Glu482=)	NC_000022.10:g.29885075G>A	(Likely) benign	2 labs	bb9ddd69d5
9:130427524 STXBP1 A>G	9	130427524	130427524	A	G	STXBP1	c.579-2A>G	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130427524A>G	(Likely) pathogenic	2 labs	bbbef80400
14:74711883 VSX2 C>T	14	74711883	74711883	C	T	VSX2	c.471C>T	NM_182894.3	NP_878314.1:p.(Ser157=)	NC_000014.8:g.74711883C>T	(Likely) benign	2 labs	d69185acf1
16:1244986 CACNA1H T>G	16	1244986	1244986	T	G	CACNA1H	c.314T>G	NM_021098.3	NP_066921.2:p.(Val105Gly)	NC_000016.9:g.1244986T>G	(Likely) benign	2 labs	bbd3876aee
2:73676384 ALMS1 C>T	2	73676384	73676384	C	T	ALMS1	c.2733C>T	NM_015120.4	NP_055935.4:p.(His911=)	NC_000002.11:g.73676384C>T	(Likely) benign	2 labs	bbd04bd690
5:41150035 C6 A>G	5	41150035	41150035	A	G	C6	c.2381+2T>C	NM_001115131.4	NP_001108603.2:p.?	NC_000005.9:g.41150035A>G	(Likely) pathogenic	4 labs	d69560f7fb
8:27320526 CHRNA2 G>T	8	27320526	27320526	G	T	CHRNA2	c.1434C>A	NM_000742.4	NP_000733.2:p.(Asp478Glu)	NC_000008.10:g.27320526G>T	(Likely) benign	2 labs	bbde23ff72
16:69726416 NFAT5 TCAA>T	16	69726416	69726421	TCAA	T	NFAT5	c.2409_2411del	NM_138714.4	NP_619728.2:p.(Gln812del)	NC_000016.9:g.69726419_69726421del	(Likely) benign	2 labs	bc20ff6d4f
1:228404169 OBSCN G>A	1	228404169	228404169	G	A	OBSCN	c.2143G>A	NM_001271223.2	NP_001258152.2:p.(Glu715Lys)	NC_000001.10:g.228404169G>A	(Likely) benign	2 labs	bc18272eb3
1:89523911 GBP1 C>T	1	89523911	89523911	C	T	GBP1	c.638G>A	NM_002053.3	NP_002044.2:p.(Ser213Asn)	NC_000001.10:g.89523911C>T	(Likely) benign	2 labs	bc1f47072e
13:32911247 BRCA2 G>T	13	32911247	32911247	G	T	BRCA2	c.2755G>T	NM_000059.4	NP_000050.3:p.(Glu919Ter)	NC_000013.10:g.32911247G>T	(Likely) pathogenic	3 labs	d69874b360
19:38987117 RYR1 G>A	19	38987117	38987117	G	A	RYR1	c.6732G>A	NM_000540.2	NP_000531.2:p.(Arg2244=)	NC_000019.9:g.38987117G>A	(Likely) benign	2 labs	bc29459394
3:193332522 OPA1 C>A	3	193332522	193332522	C	A	OPA1	c.43C>A	NM_130837.2	NP_570850.2:p.(Gln15Lys)	NC_000003.11:g.193332522C>A	(Likely) benign	2 labs	bc2afa807e
4:25678199 SLC34A2 A>G	4	25678199	25678199	A	G	SLC34A2	c.1898A>G	NM_001177999.2	NP_001171470.2:p.(Asp633Gly)	NC_000004.11:g.25678199A>G	(Likely) benign	2 labs	d69ecb7514
1:3331154 PRDM16 C>T	1	3331154	3331154	C	T	PRDM16	c.2634C>T	NM_022114.4	NP_071397.3:p.(Pro878=)	NC_000001.10:g.3331154C>T	(Likely) benign	5 labs	d6a10cb356
12:32949039 PKP2 T>G	12	32949039	32949039	T	G	PKP2	c.2489+4A>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949039T>G	(Likely) pathogenic	2 labs	bc3584bd1a
22:38379543 SOX10 G>A	22	38379543	38379543	G	A	SOX10	c.249C>T	NM_006941.4	NP_008872.1:p.(Tyr83=)	NC_000022.10:g.38379543G>A	(Likely) benign	2 labs	bc42dbce06
11:2591915 KCNQ1 G>A	11	2591915	2591915	G	A	KCNQ1	c.535G>A	NM_000218.3	NP_000209.2:p.(Gly179Ser)	NC_000011.9:g.2591915G>A	(Likely) pathogenic	2 labs	bc449012c6
13:32954260 BRCA2 C>T	13	32954260	32954260	C	T	BRCA2	c.9234C>T	NM_000059.3	NP_000050.2:p.(Val3078=)	NC_000013.10:g.32954260C>T	(Likely) benign	3 labs	bc4e0e74d4
13:32929041 BRCA2 G>T	13	32929041	32929041	G	T	BRCA2	c.7051G>T	NM_000059.4	NP_000050.3:p.(Ala2351Ser)	NC_000013.10:g.32929041G>T	(Likely) benign	5 labs	bc887abb6e
13:37583420 EXOSC8 G>C	13	37583420	37583420	G	C	EXOSC8	c.815G>C	NM_181503.3	NP_852480.1:p.(Ser272Thr)	NC_000013.10:g.37583420G>C	(Likely) benign	2 labs	bc72de5b8d
19:42373113 RPS19 G>A	19	42373113	42373113	G	A	RPS19	c.185G>A	NM_001022.4	NP_001013.1:p.(Arg62Gln)	NC_000019.9:g.42373113G>A	(Likely) pathogenic	3 labs	bc89c622c4
16:1270780 CACNA1H A>T	16	1270780	1270780	A	T	CACNA1H	c.6848A>T	NM_021098.3	NP_066921.2:p.(Asp2283Val)	NC_000016.9:g.1270780A>T	(Likely) benign	2 labs	bcabd32bb4
12:6442639 TNFRSF1A G>C	12	6442639	6442639	G	C	TNFRSF1A	c.366C>G	NM_001065.3	NP_001056.1:p.(Asp122Glu)	NC_000012.11:g.6442639G>C	VUS	2 labs	bcac0cb271
3:148712067 GYG1 G>C	3	148712067	148712067	G	C	GYG1	c.143+3G>C	NM_004130.3	NP_004121.2:p.?	NC_000003.11:g.148712067G>C	(Likely) pathogenic	2 labs	bcae831e41
7:128489034 FLNC C>G	7	128489034	128489034	C	G	FLNC	c.4925C>G	NM_001458.5	NP_001449.3:p.(Thr1642Arg)	NC_000007.13:g.128489034C>G	VUS	2 labs	bcbb0cebf6
22:19753957 TBX1 C>T	22	19753957	19753957	C	T	TBX1	c.1055C>T	NM_080647.1	NP_542378.1:p.(Pro352Leu)	NC_000022.10:g.19753957C>T	(Likely) benign	3 labs	bcded21dd2
17:73827319 UNC13D G>C	17	73827319	73827319	G	C	UNC13D	c.2553+5C>G	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73827319G>C	(Likely) benign	2 labs	bcd476c9fe
6:45405777 RUNX2 G>A	6	45405777	45405777	G	A	RUNX2	c.674G>A	NM_001024630.4	NP_001019801.3:p.(Arg225Gln)	NC_000006.11:g.45405777G>A	(Likely) pathogenic	2 labs	bcf06ecb45
17:59763465 BRIP1 T>C	17	59763465	59763465	T	C	BRIP1	c.2637A>G	NM_032043.2	NP_114432.2:p.(Glu879=)	NC_000017.10:g.59763465T>C	(Likely) benign	3 labs	bd1ee70cfa
6:51921598 PKHD1 GAA>G	6	51921598	51921605	GAA	G	PKHD1	c.1603-14_1603-13del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51921604_51921605del	(Likely) benign	2 labs	bd6af40671
12:2791749 CACNA1C G>A	12	2791749	2791749	G	A	CACNA1C	c.5478G>A	NM_001167623.2	NP_001161095.1:p.(Ala1826=)	NC_000012.11:g.2791749G>A	(Likely) benign	2 labs	bd5e31d20f
11:13514053 PTH G>T	11	13514053	13514053	G	T	PTH	c.247C>A	NM_000315.4	NP_000306.1:p.(Arg83=)	NC_000011.9:g.13514053G>T	(Likely) benign	2 labs	bd74faecb3
19:6678452 C3 G>T	19	6678452	6678452	G	T	C3	c.4645C>A	NM_000064.2	NP_000055.2:p.(Leu1549Met)	NC_000019.9:g.6678452G>T	(Likely) benign	2 labs	bd80702e80
1:173797459 DARS2 C>G	1	173797459	173797459	C	G	DARS2	c.228-12C>G	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797459C>G	(Likely) benign	3 labs	bd854c46a0
8:144997552 PLEC G>A	8	144997552	144997552	G	A	PLEC	c.6626C>T	NM_000445.5	NP_000436.2:p.(Ala2209Val)	NC_000008.10:g.144997552G>A	VUS	2 labs	bdb0cae750
19:6714035 C3 G>A	19	6714035	6714035	G	A	C3	c.741C>T	NM_000064.2	NP_000055.2:p.(Asn247=)	NC_000019.9:g.6714035G>A	(Likely) benign	2 labs	bdbd22924f
1:158631171 SPTA1 A>C	1	158631171	158631171	A	C	SPTA1	c.2493T>G	NM_003126.4	NP_003117.2:p.(Leu831=)	NC_000001.10:g.158631171A>C	(Likely) benign	2 labs	bdcf243a0b
4:114277262 ANK2 A>G	4	114277262	114277262	A	G	ANK2	c.7488A>G	NM_001148.6	NP_001139.3:p.(Thr2496=)	NC_000004.11:g.114277262A>G	(Likely) benign	3 labs	bdc34d8925
4:155507164 FGA C>T	4	155507164	155507164	C	T	FGA	c.1417G>A	NM_021871.4	NP_068657.1:p.(Asp473Asn)	NC_000004.11:g.155507164C>T	VUS	4 labs	bde2c97a2b
1:156848918 NTRK1 C>T	1	156848918	156848918	C	T	NTRK1	c.1810C>T	NM_002529.4	NP_002520.2:p.(His604Tyr)	NC_000001.10:g.156848918C>T	(Likely) benign	5 labs	bdf8ea8065
9:14775859 FREM1 G>A	9	14775859	14775859	G	A	FREM1	c.4785C>T	NM_144966.7	NP_659403.4:p.(Ala1595=)	NC_000009.11:g.14775859G>A	(Likely) benign	2 labs	be04571a06
16:2155355 PKD1 G>A	16	2155355	2155355	G	A	PKD1	c.7984C>T	NM_001009944.2	NP_001009944.2:p.(Gln2662Ter)	NC_000016.9:g.2155355G>A	(Likely) pathogenic	2 labs	be07846ed2
2:179556838 TTN C>T	2	179556838	179556838	C	T	TTN	c.27947-12G>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179556838C>T	(Likely) benign	3 labs	bdff3ece95
8:133909974 TG A>G	8	133909974	133909974	A	G	TG	c.3082A>G	NM_003235.5	NP_003226.4:p.(Met1028Val)	NC_000008.10:g.133909974A>G	(Likely) benign	2 labs	d6cfadfa80
6:157100023 ARID1B CGGAGGA>C	6	157100023	157100048	CGGAGGA	C	ARID1B	c.1229_1234del	NM_001374828.1	NP_001361757.1:p.(Gly410_Gly411del)	NC_000006.11:g.157100043_157100048del	(Likely) benign	2 labs	be2459b7ff
6:152712715 SYNE1 GA>G	6	152712715	152712729	GA	G	SYNE1	c.7713-13del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712729del	(Likely) benign	2 labs	be28a4f247
X:107924171 COL4A5 C>A	X	107924171	107924171	C	A	COL4A5	c.4072C>A	NM_033380.3	NP_203699.1:p.(Leu1358Ile)	NC_000023.10:g.107924171C>A	(Likely) benign	3 labs	be3fac8d76
1:21889636 ALPL G>A	1	21889636	21889636	G	A	ALPL	c.331G>A	NM_000478.5	NP_000469.3:p.(Ala111Thr)	NC_000001.10:g.21889636G>A	(Likely) pathogenic	2 labs	be47d24223
2:227963496 COL4A4 C>T	2	227963496	227963496	C	T	COL4A4	c.1118G>A	NM_000092.4	NP_000083.3:p.(Gly373Glu)	NC_000002.11:g.227963496C>T	(Likely) pathogenic	2 labs	be5c9db242
1:237890437 RYR2 C>T	1	237890437	237890437	C	T	RYR2	c.10776C>T	NM_001035.3	NP_001026.2:p.(Ser3592=)	NC_000001.10:g.237890437C>T	(Likely) benign	2 labs	d6d68c582c
1:3329210 PRDM16 G>A	1	3329210	3329210	G	A	PRDM16	c.2449G>A	NM_022114.4	NP_071397.3:p.(Gly817Ser)	NC_000001.10:g.3329210G>A	(Likely) benign	4 labs	d6d981da11
10:43613906 RET G>T	10	43613906	43613906	G	T	RET	c.2370G>T	NM_020975.4	NP_066124.1:p.(Leu790Phe)	NC_000010.10:g.43613906G>T	(Likely) pathogenic	2 labs	be8f1869ca
2:233404732 CHRNG T>A	2	233404732	233404732	T	A	CHRNG	c.86T>A	NM_005199.5	NP_005190.4:p.(Leu29Gln)	NC_000002.11:g.233404732T>A	VUS	2 labs	d6da12047b
9:140051473 GRIN1 G>C	9	140051473	140051473	G	C	GRIN1	c.952G>C	NM_007327.4	NP_015566.1:p.(Gly318Arg)	NC_000009.11:g.140051473G>C	VUS	2 labs	d6dcd7461a
2:71829894 DYSF G>C	2	71829894	71829894	G	C	DYSF	c.3925-12G>C	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71829894G>C	(Likely) benign	2 labs	bebac107eb
2:228144518 COL4A3 G>T	2	228144518	228144518	G	T	COL4A3	c.2135G>T	NM_000091.4	NP_000082.2:p.(Gly712Val)	NC_000002.11:g.228144518G>T	(Likely) pathogenic	2 labs	bebd3f366d
8:24810373 NEFL TCTC>T	8	24810373	24810382	TCTC	T	NEFL	c.1579_1581del	NM_006158.5	NP_006149.2:p.(Glu527del)	NC_000008.10:g.24810380_24810382del	(Likely) benign	2 labs	bea7d394fc
5:172660514 NKX2-5 AAAAAAAAAT>A	5	172660514	172660526	AAAAAAAAAT	A	NKX2-5	c.335-19_335-11del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660518_172660526del	(Likely) benign	2 labs	bead35643f
8:106814279 ZFPM2 A>G	8	106814279	106814279	A	G	ZFPM2	c.1969A>G	NM_012082.4	NP_036214.2:p.(Ser657Gly)	NC_000008.10:g.106814279A>G	(Likely) benign	2 labs	becc0ee239
6:7583295 DSP C>T	6	7583295	7583295	C	T	DSP	c.5800C>T	NM_004415.2	NP_004406.2:p.(Arg1934Ter)	NC_000006.11:g.7583295C>T	(Likely) pathogenic	2 labs	beda71cb6e
13:32912698 BRCA2 T>C	13	32912698	32912698	T	C	BRCA2	c.4206T>C	NM_000059.3	NP_000050.2:p.(Asn1402=)	NC_000013.10:g.32912698T>C	(Likely) benign	3 labs	bedb26b1b9
16:1268979 CACNA1H C>T	16	1268979	1268979	C	T	CACNA1H	c.5897C>T	NM_021098.3	NP_066921.2:p.(Ala1966Val)	NC_000016.9:g.1268979C>T	(Likely) benign	2 labs	bef4d653f1
16:2152865 PKD1 C>G	16	2152865	2152865	C	G	PKD1	c.8898G>C	NM_000296.4	NP_000287.4:p.(Glu2966Asp)	NC_000016.9:g.2152865C>G	(Likely) benign	2 labs	bef99b2f6e
15:73615455 HCN4 C>T	15	73615455	73615455	C	T	HCN4	c.2979G>A	NM_005477.3	NP_005468.1:p.(Thr993=)	NC_000015.9:g.73615455C>T	(Likely) benign	2 labs	bee864a541
1:196876603 CFHR4 C>G	1	196876603	196876603	C	G	CFHR4	c.774C>G	NM_001201550.3	NP_001188479.1:p.(Asp258Glu)	NC_000001.10:g.196876603C>G	(Likely) benign	2 labs	bf22a78786
2:31571233 XDH G>A	2	31571233	31571233	G	A	XDH	c.3052-4C>T	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31571233G>A	(Likely) benign	2 labs	bf37ebe5c7
17:62049749 SCN4A C>T	17	62049749	62049749	C	T	SCN4A	c.355G>A	NM_000334.4	NP_000325.4:p.(Val119Ile)	NC_000017.10:g.62049749C>T	(Likely) benign	2 labs	bf33a090c1
6:84798956 MRAP2 G>A	6	84798956	84798956	G	A	MRAP2	c.374G>A	NM_001346542.2	NP_001333471.1:p.(Arg125His)	NC_000006.11:g.84798956G>A	(Likely) benign	2 labs	bf392d3770
11:19204267 CSRP3 T>C	11	19204267	19204267	T	C	CSRP3	c.535A>G	NM_003476.5	NP_003467.1:p.(Thr179Ala)	NC_000011.9:g.19204267T>C	VUS	4 labs	bf48f14d89
6:32020522 TNXB A>G	6	32020522	32020522	A	G	TNXB	c.9034T>C	NM_019105.8	NP_061978.6:p.(Cys3012Arg)	NC_000006.11:g.32020522A>G	(Likely) benign	2 labs	bf59465ec4
X:10174493 CLCN4 C>T	X	10174493	10174493	C	T	CLCN4	c.651C>T	NM_001830.4	NP_001821.2:p.(Ser217=)	NC_000023.10:g.10174493C>T	(Likely) benign	2 labs	bf5f67e738
4:88964539 PKD2 C>T	4	88964539	88964539	C	T	PKD2	c.1249C>T	NM_000297.4	NP_000288.1:p.(Arg417Ter)	NC_000004.11:g.88964539C>T	(Likely) pathogenic	3 labs	bf719a54df
11:47356870 MYBPC3 A>T	11	47356870	47356870	A	T	MYBPC3	c.2738-110T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356870A>T	(Likely) benign	2 labs	bf749260d3
17:59821774 BRIP1 T>G	17	59821774	59821774	T	G	BRIP1	c.2257+19A>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59821774T>G	(Likely) benign	4 labs	bf80c1ba55
16:3306532 MEFV T>C	16	3306532	3306532	T	C	MEFV	c.56A>G	NM_000243.2	NP_000234.1:p.(Tyr19Cys)	NC_000016.9:g.3306532T>C	VUS	2 labs	bf8b36d66e
17:41209130 BRCA1 T>C	17	41209130	41209130	T	C	BRCA1	c.5216A>G	NM_007294.4	NP_009225.1:p.(Asp1739Gly)	NC_000017.10:g.41209130T>C	(Likely) pathogenic	2 labs	d6ed98d5b4
18:43435523 EPG5 A>G	18	43435523	43435523	A	G	EPG5	c.7557+15T>C	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43435523A>G	(Likely) benign	2 labs	bfa261e001
16:15878587 MYH11 C>T	16	15878587	15878587	C	T	MYH11	c.634-12G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15878587C>T	(Likely) benign	2 labs	bf9cd081c0
2:179597206 TTN C>T	2	179597206	179597206	C	T	TTN	c.16582G>A	NM_001267550.2	NP_001254479.2:p.(Ala5528Thr)	NC_000002.11:g.179597206C>T	VUS	2 labs	d6ee3c07a8
4:88977358 PKD2 C>T	4	88977358	88977358	C	T	PKD2	c.1837C>T	NM_000297.4	NP_000288.1:p.(Gln613Ter)	NC_000004.11:g.88977358C>T	(Likely) pathogenic	2 labs	bfcd245a36
15:63353939 TPM1 G>A	15	63353939	63353939	G	A	TPM1	c.591G>A	NM_001018004.2	NP_001018004.1:p.(Leu197=)	NC_000015.9:g.63353939G>A	(Likely) benign	2 labs	bfe4c5ddd2
3:9516161 SETD5 C>T	3	9516161	9516161	C	T	SETD5	c.3526C>T	NM_001080517.3	NP_001073986.1:p.(Arg1176Ter)	NC_000003.11:g.9516161C>T	(Likely) pathogenic	2 labs	bfe635fa77
1:247587794 NLRP3 C>T	1	247587794	247587794	C	T	NLRP3	c.1043C>T	NM_001243133.2	NP_001230062.1:p.(Thr348Met)	NC_000001.10:g.247587794C>T	(Likely) pathogenic	2 labs	c00460ee99
16:2160905 PKD1 G>A	16	2160905	2160905	G	A	PKD1	c.4263C>T	NM_001009944.2	NP_001009944.2:p.(Ala1421=)	NC_000016.9:g.2160905G>A	(Likely) benign	2 labs	c01724fbc7
7:91682199 AKAP9 T>A	7	91682199	91682199	T	A	AKAP9	c.5528T>A	NM_005751.5	NP_005742.4:p.(Met1843Lys)	NC_000007.13:g.91682199T>A	VUS	2 labs	c012f45a52
1:236883421 ACTN2 C>T	1	236883421	236883421	C	T	ACTN2	c.378C>T	NM_001103.4	NP_001094.1:p.(Asn126=)	NC_000001.10:g.236883421C>T	(Likely) benign	2 labs	d6f950bc1a
13:32968743 BRCA2 G>A	13	32968743	32968743	G	A	BRCA2	c.9257-83G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968743G>A	(Likely) benign	2 labs	c037daadea
2:179638260 TTN T>C	2	179638260	179638260	T	C	TTN	c.7523A>G	NM_133378.4	NP_596869.4:p.(His2508Arg)	NC_000002.11:g.179638260T>C	(Likely) benign	5 labs	d6fc0a4f8c
21:47412751 COL6A1 A>C	21	47412751	47412751	A	C	COL6A1	c.1335+27A>C	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47412751A>C	(Likely) benign	2 labs	c0263e2bad
X:153363099 MECP2 CGCG>C	X	153363099	153363119	CGCG	C	MECP2	c.21_23del	NM_001110792.2	NP_001104262.1:p.(Ala8del)	NC_000023.10:g.153363117_153363119del	(Likely) benign	2 labs	d6ff09191b
5:89988504 ADGRV1 A>G	5	89988504	89988504	A	G	ADGRV1	c.7034A>G	NM_032119.4	NP_115495.3:p.(Asn2345Ser)	NC_000005.9:g.89988504A>G	(Likely) benign	2 labs	c066bc2e3f
17:62038745 SCN4A G>A	17	62038745	62038745	G	A	SCN4A	c.1653C>T	NM_000334.4	NP_000325.4:p.(Cys551=)	NC_000017.10:g.62038745G>A	(Likely) benign	2 labs	c069a918df
22:29092912 CHEK2 G>A	22	29092912	29092912	G	A	CHEK2	c.1072C>T	NM_007194.4	NP_009125.1:p.(Gln358Ter)	NC_000022.10:g.29092912G>A	(Likely) pathogenic	3 labs	c07067a2f0
20:42788647 JPH2 G>A	20	42788647	42788647	G	A	JPH2	c.780C>T	NM_020433.5	NP_065166.2:p.(Ala260=)	NC_000020.10:g.42788647G>A	(Likely) benign	3 labs	c074cee8e3
17:37822438 TCAP G>T	17	37822438	37822438	G	T	TCAP	c.*76G>T	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37822438G>T	(Likely) benign	2 labs	c080c376c2
16:2154551 PKD1 G>A	16	2154551	2154551	G	A	PKD1	c.8109C>T	NM_001009944.2	NP_001009944.2:p.(Thr2703=)	NC_000016.9:g.2154551G>A	(Likely) benign	2 labs	c081a29101
16:2110765 TSC2 C>T	16	2110765	2110765	C	T	TSC2	c.1070C>T	NM_000548.3	NP_000539.2:p.(Ala357Val)	NC_000016.9:g.2110765C>T	(Likely) benign	2 labs	c090f9efde
16:2139976 PKD1 G>A	16	2139976	2139976	G	A	PKD1	c.12664C>T	NM_001009944.2	NP_001009944.2:p.(Leu4222=)	NC_000016.9:g.2139976G>A	(Likely) benign	2 labs	c0a64a96f2
X:107834453 COL4A5 T>G	X	107834453	107834453	T	G	COL4A5	c.1331T>G	NM_000495.5	NP_000486.1:p.(Ile444Ser)	NC_000023.10:g.107834453T>G	(Likely) benign	2 labs	c0cd3f3912
10:8115908 GATA3 G>A	10	8115908	8115908	G	A	GATA3	c.1257G>A	NM_001002295.2	NP_001002295.1:p.(Thr419=)	NC_000010.10:g.8115908G>A	(Likely) benign	2 labs	c0d8641fc5
17:36104803 HNF1B C>A	17	36104803	36104803	C	A	HNF1B	c.73G>T	NM_000458.4	NP_000449.1:p.(Val25Leu)	NC_000017.10:g.36104803C>A	(Likely) benign	2 labs	c0e1189815
17:78092063 GAA G>A	17	78092063	78092063	G	A	GAA	c.2553G>A	NM_000152.5	NP_000143.2:p.(Gly851=)	NC_000017.10:g.78092063G>A	(Likely) benign	2 labs	c1068cb5ce
1:26393851 TRIM63 C>G	1	26393851	26393851	C	G	TRIM63	c.135G>C	NM_032588.4	NP_115977.2:p.(Arg45=)	NC_000001.10:g.26393851C>G	(Likely) benign	3 labs	c0f1d5e502
16:56921829 SLC12A3 C>T	16	56921829	56921829	C	T	SLC12A3	c.2179-8C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56921829C>T	(Likely) benign	2 labs	c10c9ac07d
13:31891743 B3GLCT G>A	13	31891743	31891743	G	A	B3GLCT	c.1105G>A	NM_194318.4	NP_919299.3:p.(Gly369Ser)	NC_000013.10:g.31891743G>A	(Likely) benign	2 labs	c11a756814
17:17120315 FLCN C>G	17	17120315	17120315	C	G	FLCN	c.1176+68G>C	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17120315C>G	(Likely) benign	2 labs	c135acdcbf
1:229567663 ACTA1 C>G	1	229567663	229567663	C	G	ACTA1	c.809-14G>C	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229567663C>G	(Likely) benign	2 labs	c147fe62d3
16:2162849 PKD1 T>C	16	2162849	2162849	T	C	PKD1	c.3101A>G	NM_000296.4	NP_000287.4:p.(Asn1034Ser)	NC_000016.9:g.2162849T>C	(Likely) benign	2 labs	c14fac4cec
8:145583272 SLC52A2 C>G	8	145583272	145583272	C	G	SLC52A2	c.131-11C>G	NM_001363118.2	NP_001350047.1:p.?	NC_000008.10:g.145583272C>G	(Likely) benign	2 labs	c15ba737b8
7:116435768 MET C>T	7	116435768	116435768	C	T	MET	c.3912C>T	NM_001127500.3	NP_001120972.1:p.(Asp1304=)	NC_000007.13:g.116435768C>T	(Likely) benign	3 labs	c196a2ce40
9:138660693 KCNT1 C>T	9	138660693	138660693	C	T	KCNT1	c.1420C>T	NM_020822.2	NP_065873.2:p.(Arg474Cys)	NC_000009.11:g.138660693C>T	(Likely) pathogenic	2 labs	c1c4023294
7:4829449 AP5Z1 C>T	7	4829449	4829449	C	T	AP5Z1	c.1708-14C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4829449C>T	(Likely) benign	2 labs	c1c568fe07
3:184069792 CLCN2 T>C	3	184069792	184069792	T	C	CLCN2	c.2415+9A>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184069792T>C	(Likely) benign	3 labs	c1a9021b09
2:179615320 TTN C>T	2	179615320	179615320	C	T	TTN	c.11807G>A	NM_133379.5	NP_596870.2:p.(Arg3936Gln)	NC_000002.11:g.179615320C>T	(Likely) benign	2 labs	c1c60ecf5c
15:89862458 POLG C>T	15	89862458	89862458	C	T	POLG	c.3104+1G>A	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89862458C>T	(Likely) pathogenic	2 labs	d72884d074
18:19429366 MIB1 A>G	18	19429366	19429366	A	G	MIB1	c.2586+17A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19429366A>G	(Likely) benign	2 labs	c1e366374c
6:31903804 C2 G>C	6	31903804	31903804	G	C	C2	c.867G>C	NM_001282458.2	NP_001269387.1:p.(Glu289Asp)	NC_000006.11:g.31903804G>C	(Likely) benign	3 labs	c2085e2b5c
17:36099531 HNF1B C>T	17	36099531	36099531	C	T	HNF1B	c.444G>A	NM_000458.4	NP_000449.1:p.(Ser148=)	NC_000017.10:g.36099531C>T	(Likely) benign	2 labs	c1f917bf74
1:158637728 SPTA1 T>C	1	158637728	158637728	T	C	SPTA1	c.1958A>G	NM_003126.3	NP_003117.2:p.(Tyr653Cys)	NC_000001.10:g.158637728T>C	(Likely) benign	2 labs	c1f965560e
6:51484304 PKHD1 C>T	6	51484304	51484304	C	T	PKHD1	c.11800G>A	NM_138694.4	NP_619639.3:p.(Val3934Ile)	NC_000006.11:g.51484304C>T	(Likely) benign	2 labs	c22562c516
22:51064392 ARSA A>G	22	51064392	51064392	A	G	ARSA	c.1079T>C	NM_000487.6	NP_000478.3:p.(Leu360Pro)	NC_000022.10:g.51064392A>G	VUS	2 labs	c226fb10b6
11:108151707 ATM T>TA	11	108151707	108151709	T	TA	ATM	c.3403-13dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151709dup	(Likely) benign	4 labs	c25ee3739e
1:979748 AGRN A>T	1	979748	979748	A	T	AGRN				NC_000001.10:g.979748A>T	(Likely) benign	2 labs	c2689d098c
12:133249869 POLE G>A	12	133249869	133249869	G	A	POLE	c.1360-6C>T	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133249869G>A	(Likely) benign	2 labs	c293394991
11:823859 PNPLA2 C>T	11	823859	823859	C	T	PNPLA2	c.919+4C>T	NM_020376.4	NP_065109.1:p.?	NC_000011.9:g.823859C>T	(Likely) benign	2 labs	c2bb9276cf
5:147785802 FBXO38 A>AT	5	147785802	147785815	A	AT	FBXO38	c.731-5dup	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147785815dup	(Likely) benign	2 labs	c2902a9d8a
18:29099829 DSG2 C>T	18	29099829	29099829	C	T	DSG2	c.145C>T	NM_001943.5	NP_001934.2:p.(Arg49Cys)	NC_000018.9:g.29099829C>T	(Likely) pathogenic	3 labs	c2cf0f9608
2:179451996 TTN C>T	2	179451996	179451996	C	T	TTN	c.63942G>A	NM_001267550.2	NP_001254479.2:p.(Ser21314=)	NC_000002.11:g.179451996C>T	(Likely) benign	4 labs	d7452b9de5
6:31918468 CFB A>C	6	31918468	31918468	A	C	CFB	c.1697A>C	NM_001710.5	NP_001701.2:p.(Glu566Ala)	NC_000006.11:g.31918468A>C	(Likely) benign	2 labs	c2f04f4f81
15:73617619 HCN4 C>T	15	73617619	73617619	C	T	HCN4	c.1737+20G>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617619C>T	(Likely) benign	2 labs	c2f3deb6e6
8:55371781 SOX17 C>T	8	55371781	55371781	C	T	SOX17	c.471C>T	NM_022454.4	NP_071899.1:p.(His157=)	NC_000008.10:g.55371781C>T	(Likely) benign	2 labs	c308a2adff
13:23905202 SACS A>C	13	23905202	23905202	A	C	SACS	c.12813T>G	NM_014363.6	NP_055178.3:p.(Pro4271=)	NC_000013.10:g.23905202A>C	(Likely) benign	3 labs	c31eb51f51
16:2159183 PKD1 G>A	16	2159183	2159183	G	A	PKD1	c.5985C>T	NM_001009944.2	NP_001009944.2:p.(Arg1995=)	NC_000016.9:g.2159183G>A	(Likely) benign	2 labs	c31ea78817
16:16256935 ABCC6 G>A	16	16256935	16256935	G	A	ABCC6	c.3421C>T	NM_001171.6	NP_001162.5:p.(Arg1141Ter)	NC_000016.9:g.16256935G>A	(Likely) pathogenic	6 labs	d745394165
12:22066017 ABCC9 GA>G	12	22066017	22066027	GA	G	ABCC9	c.817-18del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066027del	(Likely) benign	2 labs	c324456381
8:41519462 ANK1 A>G	8	41519462	41519462	A	G	ANK1	c.5602-3T>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41519462A>G	(Likely) benign	2 labs	c33f83a20f
20:43048416 HNF4A G>A	20	43048416	43048416	G	A	HNF4A	c.717G>A	NM_001287182.2	NP_001274111.1:p.(Val239=)	NC_000020.10:g.43048416G>A	(Likely) benign	2 labs	c36370deab
16:56938387 SLC12A3 C>T	16	56938387	56938387	C	T	SLC12A3	c.2951+13C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56938387C>T	(Likely) benign	3 labs	c373859f29
16:1270162 CACNA1H G>A	16	1270162	1270162	G	A	CACNA1H	c.6230G>A	NM_021098.3	NP_066921.2:p.(Arg2077His)	NC_000016.9:g.1270162G>A	(Likely) benign	2 labs	c3751b456f
16:89346163 ANKRD11 G>A	16	89346163	89346163	G	A	ANKRD11	c.6787C>T	NM_001256182.2	NP_001243111.1:p.(Pro2263Ser)	NC_000016.9:g.89346163G>A	(Likely) benign	3 labs	c376883694
9:139403372 NOTCH1 C>T	9	139403372	139403372	C	T	NOTCH1	c.3121G>A	NM_017617.5	NP_060087.3:p.(Gly1041Ser)	NC_000009.11:g.139403372C>T	VUS	2 labs	c38bb03bd8
9:130259618 LRSAM1 A>C	9	130259618	130259618	A	C	LRSAM1	c.1912+5A>C	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130259618A>C	(Likely) benign	2 labs	d749863ccf
14:23885349 MYH7 C>T	14	23885349	23885349	C	T	MYH7	c.4817G>A	NM_000257.4	NP_000248.2:p.(Arg1606His)	NC_000014.8:g.23885349C>T	VUS	3 labs	d74acc5b2a
5:236713 SDHA TGG>T	5	236713	236715	TGG	T	SDHA	c.1432_1432+1del	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.236714_236715del	(Likely) pathogenic	2 labs	c3a94fb667
9:131351096 SPTAN1 G>A	9	131351096	131351096	G	A	SPTAN1	c.2880G>A	NM_001363759.2	NP_001350688.1:p.(Val960=)	NC_000009.11:g.131351096G>A	(Likely) benign	2 labs	c3a06b879c
11:836166 CD151 C>T	11	836166	836166	C	T	CD151	c.84+13C>T	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.836166C>T	(Likely) benign	2 labs	c3fd0ef88b
1:43394721 SLC2A1 T>C	1	43394721	43394721	T	C	SLC2A1	c.973-17A>G	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43394721T>C	(Likely) benign	2 labs	c3f10656fb
20:56139365 PCK1 G>A	20	56139365	56139365	G	A	PCK1	c.1102G>A	NM_002591.4	NP_002582.3:p.(Val368Ile)	NC_000020.10:g.56139365G>A	(Likely) benign	2 labs	c406e68006
16:3304293 MEFV T>C	16	3304293	3304293	T	C	MEFV	c.775A>G	NM_000243.3	NP_000234.1:p.(Ile259Val)	NC_000016.9:g.3304293T>C	VUS	2 labs	c465ac7103
16:2147485 PKD1 C>T	16	2147485	2147485	C	T	PKD1	c.10240G>A	NM_001009944.2	NP_001009944.2:p.(Gly3414Ser)	NC_000016.9:g.2147485C>T	(Likely) benign	2 labs	c484a6765a
2:220283379 DES C>T	2	220283379	220283379	C	T	DES	c.195C>T	NM_001927.4	NP_001918.3:p.(Gly65=)	NC_000002.11:g.220283379C>T	(Likely) benign	2 labs	c49e93bbc1
19:38991448 RYR1 T>A	19	38991448	38991448	T	A	RYR1	c.7445-13T>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38991448T>A	(Likely) benign	2 labs	c494fa5142
2:179399417 TTN T>C	2	179399417	179399417	T	C	TTN	c.101925A>G	NM_001267550.2	NP_001254479.2:p.(Leu33975=)	NC_000002.11:g.179399417T>C	(Likely) benign	5 labs	d7657f07e2
16:56903649 SLC12A3 T>C	16	56903649	56903649	T	C	SLC12A3	c.514T>C	NM_000339.3	NP_000330.3:p.(Trp172Arg)	NC_000016.9:g.56903649T>C	(Likely) pathogenic	2 labs	c4a48f70a0
3:30691865 TGFBR2 A>T	3	30691865	30691865	A	T	TGFBR2	c.442A>T	NM_001024847.2	NP_001020018.1:p.(Met148Leu)	NC_000003.11:g.30691865A>T	VUS	2 labs	c4aaafa1d2
2:227917112 COL4A4 G>A	2	227917112	227917112	G	A	COL4A4	c.2877C>T	NM_000092.4	NP_000083.3:p.(Pro959=)	NC_000002.11:g.227917112G>A	(Likely) benign	2 labs	c4b9569e1b
12:57966034 KIF5A A>T	12	57966034	57966034	A	T	KIF5A	c.1553A>T	NM_004984.4	NP_004975.2:p.(Glu518Val)	NC_000012.11:g.57966034A>T	VUS	2 labs	d765aeec14
10:104160434 NFKB2 A>G	10	104160434	104160434	A	G	NFKB2	c.1821=	NM_001288724.1	NP_001275653.1:p.(Ala607=)	NC_000010.10:g.104160434A>G	(Likely) benign	2 labs	d7689a2c33
16:23647232 PALB2 G>C	16	23647232	23647232	G	C	PALB2	c.635C>G	NM_024675.3	NP_078951.2:p.(Pro212Arg)	NC_000016.9:g.23647232G>C	VUS	2 labs	c4dee691ac
2:179613780 TTN T>C	2	179613780	179613780	T	C	TTN	c.13347A>G	NM_133379.5	NP_596870.2:p.(Ile4449Met)	NC_000002.11:g.179613780T>C	(Likely) benign	2 labs	c4ca9709dc
17:36091574 HNF1B A>G	17	36091574	36091574	A	G	HNF1B	c.1045+12T>C	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36091574A>G	(Likely) benign	2 labs	c4e95dd2db
19:38996014 RYR1 G>A	19	38996014	38996014	G	A	RYR1	c.8376G>A	NM_000540.2	NP_000531.2:p.(Arg2792=)	NC_000019.9:g.38996014G>A	(Likely) benign	2 labs	c5181f3184
18:34229278 FHOD3 G>A	18	34229278	34229278	G	A	FHOD3	c.1197-1G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34229278G>A	VUS	2 labs	d773630eed
16:78312527 WWOX A>G	16	78312527	78312527	A	G	WWOX	c.544A>G	NM_130791.5	NP_570607.1:p.(Lys182Glu)	NC_000016.9:g.78312527A>G	(Likely) benign	2 labs	c552fd096d
21:47420667 COL6A1 C>G	21	47420667	47420667	C	G	COL6A1	c.1814-6C>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47420667C>G	(Likely) benign	2 labs	c55bd3f37c
2:25384113 POMC T>C	2	25384113	25384113	T	C	POMC	c.641A>G	NM_001035256.3	NP_001030333.1:p.(Glu214Gly)	NC_000002.11:g.25384113T>C	(Likely) benign	2 labs	c550eeec44
15:73023914 BBS4 C>T	15	73023914	73023914	C	T	BBS4	c.883C>T	NM_033028.4	NP_149017.2:p.(Arg295Ter)	NC_000015.9:g.73023914C>T	(Likely) pathogenic	3 labs	c55fbdbca8
2:228121132 COL4A3 C>G	2	228121132	228121132	C	G	COL4A3	c.987+20C>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228121132C>G	(Likely) benign	2 labs	c56a7ca82f
16:56928470 SLC12A3 T>C	16	56928470	56928470	T	C	SLC12A3	c.2576T>C	NM_000339.3	NP_000330.3:p.(Leu859Pro)	NC_000016.9:g.56928470T>C	(Likely) pathogenic	2 labs	c5768cc66d
1:196642349 CFH G>A	1	196642349	196642349	G	A	CFH	c.244+56G>A	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642349G>A	(Likely) benign	2 labs	c57e9a6a39
4:79186171 FRAS1 G>A	4	79186171	79186171	G	A	FRAS1	c.604-8G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79186171G>A	(Likely) benign	2 labs	c5cb4537a8
2:48027436 MSH6 C>T	2	48027436	48027436	C	T	MSH6	c.2314C>T	NM_000179.3	NP_000170.1:p.(Arg772Trp)	NC_000002.11:g.48027436C>T	(Likely) pathogenic	4 labs	c5caeb60ae
10:102568872 PAX2 C>T	10	102568872	102568872	C	T	PAX2	c.798C>T	NM_003988.5	NP_003979.2:p.(Asn266=)	NC_000010.10:g.102568872C>T	(Likely) benign	2 labs	c6154c054d
5:14463003 TRIO G>A	5	14463003	14463003	G	A	TRIO	c.5636G>A	NM_007118.4	NP_009049.2:p.(Ser1879Asn)	NC_000005.9:g.14463003G>A	VUS	2 labs	d78722f2b6
12:103288671 PAH A>G	12	103288671	103288671	A	G	PAH	c.194T>C	NM_000277.3	NP_000268.1:p.(Ile65Thr)	NC_000012.11:g.103288671A>G	(Likely) pathogenic	3 labs	c64e644e0f
9:140057154 GRIN1 G>A	9	140057154	140057154	G	A	GRIN1	c.1976G>A	NM_007327.4	NP_015566.1:p.(Arg659Gln)	NC_000009.11:g.140057154G>A	(Likely) pathogenic	2 labs	c64a1bb876
2:30143499 ALK G>C	2	30143499	30143499	G	C	ALK	c.27C>G	NM_004304.5	NP_004295.2:p.(Leu9=)	NC_000002.11:g.30143499G>C	(Likely) benign	2 labs	d7896ea3cb
6:108204319 SEC63 ACTT>A	6	108204319	108204329	ACTT	A	SEC63	c.1703_1705del	NM_007214.5	NP_009145.1:p.(Glu568del)	NC_000006.11:g.108204327_108204329del	(Likely) benign	2 labs	c6501aef07
17:42327846 SLC4A1 C>G	17	42327846	42327846	C	G	SLC4A1	c.2716G>C	NM_000342.4	NP_000333.1:p.(Glu906Gln)	NC_000017.10:g.42327846C>G	(Likely) benign	2 labs	c65396602f
14:74753399 ABCD4 G>A	14	74753399	74753399	G	A	ABCD4	c.1752+5C>T	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74753399G>A	(Likely) benign	2 labs	c6677a6fd3
6:84798955 MRAP2 C>T	6	84798955	84798955	C	T	MRAP2	c.373C>T	NM_001346542.2	NP_001333471.1:p.(Arg125Cys)	NC_000006.11:g.84798955C>T	(Likely) benign	2 labs	c67d8921cd
3:183860871 EIF2B5 G>A	3	183860871	183860871	G	A	EIF2B5	c.1686G>A	NM_003907.3	NP_003898.2:p.(Gln562=)	NC_000003.11:g.183860871G>A	(Likely) benign	2 labs	c69e5a8ff4
15:90176432 KIF7 T>G	15	90176432	90176432	T	G	KIF7	c.2658A>C	NM_198525.3	NP_940927.2:p.(Ala886=)	NC_000015.9:g.90176432T>G	(Likely) benign	5 labs	d78f1a9e22
15:80452738 FAH G>A	15	80452738	80452738	G	A	FAH	c.315-14G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452738G>A	(Likely) benign	2 labs	c6ae037aa2
1:235922341 LYST T>C	1	235922341	235922341	T	C	LYST	c.6812A>G	NM_000081.3	NP_000072.2:p.(Asp2271Gly)	NC_000001.10:g.235922341T>C	(Likely) benign	2 labs	c6ce6e16c2
1:171077372 FMO3 C>G	1	171077372	171077372	C	G	FMO3	c.627+10C>G	NM_001002294.3	NP_001002294.1:p.?	NC_000001.10:g.171077372C>G	(Likely) benign	2 labs	d797a1c8a1
10:21157653 NEBL G>A	10	21157653	21157653	G	A	NEBL	c.624C>T	NM_006393.3	NP_006384.1:p.(Pro208=)	NC_000010.10:g.21157653G>A	(Likely) benign	2 labs	c6eb6dce14
16:2161887 PKD1 C>T	16	2161887	2161887	C	T	PKD1	c.3296-15G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2161887C>T	(Likely) benign	3 labs	c6d5b1750f
5:77396835 AP3B1 TTTC>T	5	77396835	77396840	TTTC	T	AP3B1	c.2409_2411del	NM_003664.5	NP_003655.3:p.(Lys804del)	NC_000005.9:g.77396838_77396840del	(Likely) benign	2 labs	c6d8261512
6:110113763 FIG4 CT>C	6	110113763	110113775	CT	C	FIG4	c.2377-10del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113775del	(Likely) benign	2 labs	c6ccb1ba57
6:146480740 GRM1 TTCTCTC>T	6	146480740	146480778	TTCTCTC	T	GRM1	c.950+40_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480773_146480778del	(Likely) benign	2 labs	c6f4abe9b8
2:228119357 COL4A3 C>T	2	228119357	228119357	C	T	COL4A3	c.829-15C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228119357C>T	(Likely) benign	2 labs	c71c468566
19:35524672 SCN1B C>T	19	35524672	35524672	C	T	SCN1B	c.477C>T	NM_199037.5	NP_950238.1:p.(Thr159=)	NC_000019.9:g.35524672C>T	(Likely) benign	3 labs	c70b4827df
2:179447008 TTN G>A	2	179447008	179447008	G	A	TTN	c.66160+15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179447008G>A	(Likely) benign	2 labs	c70d8e01db
X:3229337 MXRA5 C>T	X	3229337	3229337	C	T	MXRA5	c.6907G>A	NM_015419.4	NP_056234.2:p.(Val2303Ile)	NC_000023.10:g.3229337C>T	(Likely) benign	2 labs	c7256e3931
15:68521889 CLN6 C>T	15	68521889	68521889	C	T	CLN6	c.34G>A	NM_017882.3	NP_060352.1:p.(Ala12Thr)	NC_000015.9:g.68521889C>T	(Likely) benign	3 labs	c74b6db308
16:68847399 CDH1 G>T	16	68847399	68847399	G	T	CDH1	c.1320+1G>T	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68847399G>T	(Likely) pathogenic	2 labs	c746b6ac8c
3:37034998 MLH1 G>A	3	37034998	37034998	G	A	MLH1	c.-41G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37034998G>A	(Likely) benign	2 labs	c747f448c0
12:103234265 PAH A>G	12	103234265	103234265	A	G	PAH	c.1228T>C	NM_000277.3	NP_000268.1:p.(Phe410Leu)	NC_000012.11:g.103234265A>G	(Likely) pathogenic	2 labs	c748e873dc
2:1481231 TPO G>C	2	1481231	1481231	G	C	TPO	c.1193G>C	NM_000547.6	NP_000538.3:p.(Ser398Thr)	NC_000002.11:g.1481231G>C	(Likely) benign	3 labs	c759d6cef2
2:48023069 MSH6 T>G	2	48023069	48023069	T	G	MSH6	c.494T>G	NM_000179.2	NP_000170.1:p.(Phe165Cys)	NC_000002.11:g.48023069T>G	VUS	2 labs	c753affa82
6:51612837 PKHD1 C>T	6	51612837	51612837	C	T	PKHD1	c.9577G>A	NM_138694.4	NP_619639.3:p.(Val3193Ile)	NC_000006.11:g.51612837C>T	(Likely) benign	2 labs	c778dd95e0
11:103194686 DYNC2H1 G>A	11	103194686	103194686	G	A	DYNC2H1	c.12028G>A	NM_001080463.2	NP_001073932.1:p.(Ala4010Thr)	NC_000011.9:g.103194686G>A	(Likely) benign	2 labs	c7911f1fe7
13:32928936 BRCA2 A>G	13	32928936	32928936	A	G	BRCA2	c.7008-62A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32928936A>G	(Likely) benign	3 labs	c79fc44281
14:65242125 SPTB C>T	14	65242125	65242125	C	T	SPTB	c.4564-4G>A	NM_001024858.4	NP_001020029.1:p.?	NC_000014.8:g.65242125C>T	(Likely) benign	2 labs	c7c89bdc2c
12:103352171 ASCL1 CGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCA	C	ASCL1	c.178_186del	NM_004316.4	NP_004307.2:p.(Gln60_Gln62del)	NC_000012.11:g.103352200_103352208del	(Likely) benign	2 labs	da3e58d35b
11:2549192 KCNQ1 G>A	11	2549192	2549192	G	A	KCNQ1	c.421G>A	NM_000218.3	NP_000209.2:p.(Val141Met)	NC_000011.9:g.2549192G>A	(Likely) pathogenic	2 labs	c7c945d9a0
16:15811165 MYH11 G>A	16	15811165	15811165	G	A	MYH11	c.5357C>T	NM_001040113.2	NP_001035202.1:p.(Thr1786Met)	NC_000016.9:g.15811165G>A	(Likely) benign	2 labs	c7cd467bb0
22:29130449 CHEK2 CTCCTCAGGTTCTTGG>C	22	29130449	29130487	CTCCTCAGGTTCTTGG	C	CHEK2	c.246_260del	NM_007194.4	NP_009125.1:p.(Asp82_Glu86del)	NC_000022.10:g.29130473_29130487del	VUS	3 labs	c7e9ddb55a
4:65180463 TECRL T>C	4	65180463	65180463	T	C	TECRL	c.454A>G	NM_001010874.5	NP_001010874.2:p.(Thr152Ala)	NC_000004.11:g.65180463T>C	(Likely) benign	2 labs	c7e9d4653d
12:6440009 TNFRSF1A T>C	12	6440009	6440009	T	C	TNFRSF1A	c.625+10A>G	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6440009T>C	(Likely) benign	2 labs	c80020378e
17:42338136 SLC4A1 C>A	17	42338136	42338136	C	A	SLC4A1	c.216G>T	NM_000342.4	NP_000333.1:p.(Glu72Asp)	NC_000017.10:g.42338136C>A	(Likely) benign	2 labs	c833f69ae6
14:23852442 MYH6 C>T	14	23852442	23852442	C	T	MYH6	c.5653G>A	NM_002471.4	NP_002462.2:p.(Glu1885Lys)	NC_000014.8:g.23852442C>T	VUS	2 labs	da4f50e0cf
17:40695539 NAGLU C>T	17	40695539	40695539	C	T	NAGLU	c.1515C>T	NM_000263.4	NP_000254.2:p.(Ser505=)	NC_000017.10:g.40695539C>T	(Likely) benign	3 labs	da4fc6a5e9
6:146480740 GRM1 T>TTC	6	146480740	146480778	T	TTC	GRM1	c.950+44_950+45dup	NM_001278065.2	NP_001264994.1:p.?	NC_000006.11:g.146480777_146480778dup	(Likely) benign	2 labs	c89442ec54
16:9858502 GRIN2A C>G	16	9858502	9858502	C	G	GRIN2A	c.2899G>C	NM_000833.5	NP_000824.1:p.(Val967Leu)	NC_000016.9:g.9858502C>G	(Likely) benign	2 labs	c8ec742dd5
16:2160296 PKD1 G>A	16	2160296	2160296	G	A	PKD1	c.4872C>T	NM_001009944.2	NP_001009944.2:p.(Ile1624=)	NC_000016.9:g.2160296G>A	(Likely) benign	2 labs	c8f4cf0b9d
8:144994094 PLEC G>A	8	144994094	144994094	G	A	PLEC	c.10306C>T	NM_201380.4	NP_958782.1:p.(Arg3436Trp)	NC_000008.10:g.144994094G>A	(Likely) benign	2 labs	c8fa897c8a
1:11308007 MTOR C>T	1	11308007	11308007	C	T	MTOR	c.985G>A	NM_004958.4	NP_004949.1:p.(Ala329Thr)	NC_000001.10:g.11308007C>T	(Likely) benign	3 labs	c90c269561
2:179497535 TTN A>G	2	179497535	179497535	A	G	TTN	c.43214-16T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179497535A>G	(Likely) benign	2 labs	c90a5c84e4
2:228128519 COL4A3 G>A	2	228128519	228128519	G	A	COL4A3	c.1174G>A	NM_000091.4	NP_000082.2:p.(Gly392Arg)	NC_000002.11:g.228128519G>A	(Likely) pathogenic	2 labs	c940c0dcd7
1:156106775 LMNA C>T	1	156106775	156106775	C	T	LMNA				NC_000001.10:g.156106775C>T	(Likely) pathogenic	2 labs	c940542e6c
9:140773612 CACNA1B G>GACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTT	9	140773612	140773613	G	GACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTT	CACNA1B	c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTT	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140773612_140773613insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTCTGGGCTT	(Likely) benign	2 labs	d7af622a58
5:147470774 SPINK5 C>T	5	147470774	147470774	C	T	SPINK5	c.649C>T	NM_001127698.2	NP_001121170.1:p.(Arg217Ter)	NC_000005.9:g.147470774C>T	(Likely) pathogenic	2 labs	c9454ca331
4:88996024 PKD2 CG>C	4	88996024	88996025	CG	C	PKD2	c.2584del	NM_000297.4	NP_000288.1:p.(Ala862ProfsTer2)	NC_000004.11:g.88996025del	(Likely) pathogenic	2 labs	c945c592e3
22:31363813 MORC2 T>C	22	31363813	31363813	T	C	MORC2	c.63A>G	NM_001303256.3	NP_001290185.1:p.(Thr21=)	NC_000022.10:g.31363813T>C	(Likely) benign	2 labs	c94ffe9457
17:42335387 SLC4A1 G>A	17	42335387	42335387	G	A	SLC4A1	c.1249C>T	NM_000342.4	NP_000333.1:p.(Leu417=)	NC_000017.10:g.42335387G>A	(Likely) benign	3 labs	c98caced79
2:228159660 COL4A3 GTT>G	2	228159660	228159676	GTT	G	COL4A3	c.3419-5_3419-4del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228159675_228159676del	(Likely) benign	2 labs	c9904c928a
9:35657838 RMRP G>A	9	35657838	35657838	G	A	RMRP	n.178C>T	NR_003051.3		NC_000009.11:g.35657838G>A	(Likely) benign	3 labs	c99cbc47e2
1:237655173 RYR2 A>T	1	237655173	237655173	A	T	RYR2	c.1776A>T	NM_001035.3	NP_001026.2:p.(Gly592=)	NC_000001.10:g.237655173A>T	(Likely) benign	4 labs	c9908b3712
X:152960359 SLC6A8 C>T	X	152960359	152960359	C	T	SLC6A8	c.1767+15C>T	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152960359C>T	(Likely) benign	2 labs	c9b5a7c50a
17:59938833 BRIP1 G>A	17	59938833	59938833	G	A	BRIP1	c.68C>T	NM_032043.2	NP_114432.2:p.(Pro23Leu)	NC_000017.10:g.59938833G>A	VUS	2 labs	c9b7f61020
17:10536018 MYH3 G>A	17	10536018	10536018	G	A	MYH3	c.4731C>T	NM_002470.4	NP_002461.2:p.(Ile1577=)	NC_000017.10:g.10536018G>A	(Likely) benign	3 labs	d7b91dc56e
16:2137857 TSC2 C>T	16	2137857	2137857	C	T	TSC2	c.4990-7C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137857C>T	(Likely) benign	2 labs	c9fce8d7c1
15:33961551 RYR3 A>G	15	33961551	33961551	A	G	RYR3	c.5620-4A>G	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.33961551A>G	(Likely) benign	2 labs	d7bda45dd3
2:179476001 TTN G>A	2	179476001	179476001	G	A	TTN	c.50858-3C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179476001G>A	(Likely) benign	2 labs	ca248f2f5c
1:150531008 ADAMTSL4 T>C	1	150531008	150531008	T	C	ADAMTSL4	c.2442T>C	NM_019032.6	NP_061905.2:p.(Asn814=)	NC_000001.10:g.150531008T>C	(Likely) benign	2 labs	d7bfc0abcf
15:73617293 HCN4 C>A	15	73617293	73617293	C	A	HCN4	c.1978+3G>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617293C>A	(Likely) benign	2 labs	ca2a239579
14:95583035 DICER1 GA>G	14	95583035	95583045	GA	G	DICER1	c.1510-4del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95583045del	(Likely) benign	2 labs	ca4ba1b871
4:79387464 FRAS1 A>G	4	79387464	79387464	A	G	FRAS1	c.7132A>G	NM_025074.7	NP_079350.5:p.(Lys2378Glu)	NC_000004.11:g.79387464A>G	(Likely) benign	2 labs	ca7a5f01b6
18:29101215 DSG2 C>CT	18	29101215	29101230	C	CT	DSG2	c.523+24dup	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101230dup	(Likely) benign	2 labs	d90fa7e734
1:228345567 GJC2 C>T	1	228345567	228345567	C	T	GJC2	c.108C>T	NM_020435.4	NP_065168.2:p.(Ile36=)	NC_000001.10:g.228345567C>T	(Likely) benign	3 labs	ca629d57e8
12:112888211 PTPN11 A>T	12	112888211	112888211	A	T	PTPN11	c.227A>T	NM_002834.5	NP_002825.3:p.(Glu76Val)	NC_000012.11:g.112888211A>T	(Likely) pathogenic	2 labs	d7c454d1b1
7:128477198 FLNC T>A	7	128477198	128477198	T	A	FLNC	c.602-16T>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477198T>A	(Likely) benign	3 labs	caaeedad01
6:51892977 PKHD1 A>G	6	51892977	51892977	A	G	PKHD1	c.3537T>C	NM_138694.4	NP_619639.3:p.(Asn1179=)	NC_000006.11:g.51892977A>G	(Likely) benign	2 labs	cab868b3ec
3:100467262 TFG A>C	3	100467262	100467262	A	C	TFG	c.1090A>C	NM_006070.6	NP_006061.2:p.(Thr364Pro)	NC_000003.11:g.100467262A>C	(Likely) benign	2 labs	cac0e17d4c
12:13764774 GRIN2B G>A	12	13764774	13764774	G	A	GRIN2B	c.1665C>T	NM_000834.5	NP_000825.2:p.(Ser555=)	NC_000012.11:g.13764774G>A	(Likely) benign	3 labs	caf0153ed3
21:47409580 COL6A1 C>A	21	47409580	47409580	C	A	COL6A1	c.903+14C>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47409580C>A	(Likely) benign	3 labs	caf7c27312
7:142460369 PRSS1 G>A	7	142460369	142460369	G	A	PRSS1	c.542G>A	NM_002769.5	NP_002760.1:p.(Ser181Asn)	NC_000007.13:g.142460369G>A	(Likely) benign	2 labs	cb18e7a78a
4:79238511 FRAS1 C>G	4	79238511	79238511	C	G	FRAS1	c.1820-11C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79238511C>G	(Likely) benign	2 labs	cb1d6a688a
1:120508206 NOTCH2 G>A	1	120508206	120508206	G	A	NOTCH2	c.1568-17C>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120508206G>A	(Likely) benign	2 labs	cb23397af1
3:64672501 ADAMTS9 C>A	3	64672501	64672501	C	A	ADAMTS9	c.259G>T	NM_182920.2	NP_891550.1:p.(Ala87Ser)	NC_000003.11:g.64672501C>A	(Likely) benign	2 labs	cb3c17fcf8
16:2113058 TSC2 C>T	16	2113058	2113058	C	T	TSC2	c.1443+4C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2113058C>T	(Likely) benign	2 labs	cb4f9f560d
11:71152461 DHCR7 A>G	11	71152461	71152461	A	G	DHCR7	c.438T>C	NM_001360.3	NP_001351.2:p.(Asn146=)	NC_000011.9:g.71152461A>G	(Likely) benign	3 labs	cb9b0593a2
15:48752429 FBN1 C>T	15	48752429	48752429	C	T	FBN1	c.5296+14G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752429C>T	(Likely) benign	2 labs	cba8ee9fd2
16:81957106 PLCG2 A>G	16	81957106	81957106	A	G	PLCG2	c.2324A>G	NM_002661.5	NP_002652.2:p.(Lys775Arg)	NC_000016.9:g.81957106A>G	(Likely) benign	2 labs	cbc5130fb7
8:10467637 RP1L1 T>C	8	10467637	10467637	T	C	RP1L1	c.3971A>G	NM_178857.6	NP_849188.4:p.(Glu1324Gly)	NC_000008.10:g.10467637T>C	(Likely) benign	4 labs	d7eb441974
X:44920641 KDM6A T>C	X	44920641	44920641	T	C	KDM6A	c.1558T>C	NM_001291415.1	NP_001278344.1:p.(Cys520Arg)	NC_000023.10:g.44920641T>C	(Likely) benign	2 labs	cbcf36aa7e
5:90073786 ADGRV1 G>A	5	90073786	90073786	G	A	ADGRV1	c.12592G>A	NM_032119.4	NP_115495.3:p.(Val4198Met)	NC_000005.9:g.90073786G>A	(Likely) benign	2 labs	cbd4c8dc9d
2:179631357 TTN TA>T	2	179631357	179631364	TA	T	TTN	c.9472-19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179631364del	(Likely) benign	3 labs	cbb66780b4
9:138678016 KCNT1 CGCCCT>C	9	138678016	138678040	CGCCCT	C	KCNT1	c.3178-7_3178-3del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138678036_138678040del	(Likely) benign	2 labs	cbe1c29691
11:47357482 MYBPC3 G>A	11	47357482	47357482	G	A	MYBPC3	c.2683C>T	NM_000256.3	NP_000247.2:p.(Arg895Cys)	NC_000011.9:g.47357482G>A	VUS	2 labs	cbe776556e
14:64653146 SYNE2 T>C	14	64653146	64653146	T	C	SYNE2	c.17561T>C	NM_182914.3	NP_878918.2:p.(Leu5854Pro)	NC_000014.8:g.64653146T>C	(Likely) benign	2 labs	cbe212456f
17:10424643 MYH2 C>T	17	10424643	10424643	C	T	MYH2	c.5780G>A	NM_017534.6	NP_060004.3:p.(Arg1927Gln)	NC_000017.10:g.10424643C>T	(Likely) benign	2 labs	cbf88833c2
2:179636147 TTN T>A	2	179636147	179636147	T	A	TTN	c.7769A>T	NM_133432.3	NP_597676.3:p.(Glu2590Val)	NC_000002.11:g.179636147T>A	VUS	2 labs	cbfd2a6758
13:110818598 COL4A1 T>G	13	110818598	110818598	T	G	COL4A1	c.4002A>C	NM_001845.6	NP_001836.3:p.(Gln1334His)	NC_000013.10:g.110818598T>G	(Likely) benign	4 labs	d7effbf461
4:5755516 EVC T>A	4	5755516	5755516	T	A	EVC	c.1320T>A	NM_153717.3	NP_714928.1:p.(Phe440Leu)	NC_000004.11:g.5755516T>A	(Likely) benign	2 labs	cc0ae60941
1:226127129 LEFTY2 C>A	1	226127129	226127129	C	A	LEFTY2	c.669G>T	NM_003240.5	NP_003231.2:p.(Ser223=)	NC_000001.10:g.226127129C>A	(Likely) benign	2 labs	cc0fb224a5
13:39425906 FREM2 G>A	13	39425906	39425906	G	A	FREM2	c.6826G>A	NM_207361.6	NP_997244.4:p.(Val2276Met)	NC_000013.10:g.39425906G>A	(Likely) benign	2 labs	cc153a0603
1:201021679 CACNA1S G>A	1	201021679	201021679	G	A	CACNA1S	c.3953+6C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201021679G>A	(Likely) benign	2 labs	cc1dc67af7
16:56913119 SLC12A3 G>A	16	56913119	56913119	G	A	SLC12A3	c.1315G>A	NM_000339.3	NP_000330.3:p.(Gly439Ser)	NC_000016.9:g.56913119G>A	(Likely) pathogenic	2 labs	cc3652095c
9:138678160 KCNT1 C>T	9	138678160	138678160	C	T	KCNT1	c.3295C>T	NM_020822.3	NP_065873.2:p.(Pro1099Ser)	NC_000009.11:g.138678160C>T	(Likely) benign	2 labs	cc464054b9
9:136301982 ADAMTS13 C>G	9	136301982	136301982	C	G	ADAMTS13	c.1342C>G	NM_139025.4	NP_620594.1:p.(Gln448Glu)	NC_000009.11:g.136301982C>G	(Likely) benign	2 labs	cc50a6bc1c
6:49412433 MMUT C>T	6	49412433	49412433	C	T	MMUT	c.1595G>A	NM_000255.4	NP_000246.2:p.(Arg532His)	NC_000006.11:g.49412433C>T	(Likely) benign	4 labs	cc65b5256c
16:2138086 TSC2 C>A	16	2138086	2138086	C	A	TSC2	c.5106C>A	NM_000548.5	NP_000539.2:p.(Ile1702=)	NC_000016.9:g.2138086C>A	(Likely) benign	3 labs	cc82c1a953
19:7712050 STXBP2 C>T	19	7712050	7712050	C	T	STXBP2	c.1488C>T	NM_001272034.2	NP_001258963.1:p.(Asp496=)	NC_000019.9:g.7712050C>T	(Likely) benign	2 labs	cc7caba611
16:2159385 PKD1 G>C	16	2159385	2159385	G	C	PKD1	c.5783C>G	NM_001009944.2	NP_001009944.2:p.(Pro1928Arg)	NC_000016.9:g.2159385G>C	(Likely) benign	2 labs	cc8372bf6d
2:167060980 SCN9A GAAAC>G	2	167060980	167060991	GAAAC	G	SCN9A	c.4366-10_4366-7del	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060988_167060991del	(Likely) benign	3 labs	cc9884ecc5
19:49519855 LHB T>G	19	49519855	49519855	T	G	LHB	c.132A>C	NM_000894.3	NP_000885.1:p.(Pro44=)	NC_000019.9:g.49519855T>G	(Likely) benign	2 labs	ccbcc2b1ec
9:130996393 DNM1 C>A	9	130996393	130996393	C	A	DNM1	c.1422+7C>A	NM_001288738.2	NP_001275667.1:p.?	NC_000009.11:g.130996393C>A	(Likely) benign	2 labs	ccc0b35046
12:88508970 CEP290 CAG>C	12	88508970	88508977	CAG	C	CEP290	c.1825-13_1825-12del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88508976_88508977del	(Likely) benign	2 labs	ccc2d372b2
2:167168093 SCN9A C>T	2	167168093	167168093	C	T	SCN9A	c.174G>A	NM_002977.3	NP_002968.1:p.(Gln58=)	NC_000002.11:g.167168093C>T	(Likely) benign	3 labs	ccca9fa212
12:53456223 TNS2 G>A	12	53456223	53456223	G	A	TNS2	c.3761G>A	NM_015319.2	NP_056134.2:p.(Arg1254His)	NC_000012.11:g.53456223G>A	(Likely) benign	2 labs	ccf15a36c7
5:147506573 SPINK5 G>A	5	147506573	147506573	G	A	SPINK5	c.2985G>A	NM_001127698.2	NP_001121170.1:p.(Lys995=)	NC_000005.9:g.147506573G>A	(Likely) benign	2 labs	ccf1e08bd6
20:8721104 PLCB1 C>T	20	8721104	8721104	C	T	PLCB1	c.2413+9C>T	NM_182734.3	NP_877398.1:p.?	NC_000020.10:g.8721104C>T	(Likely) benign	2 labs	cd0ce73f74
19:33333179 SLC7A9 C>T	19	33333179	33333179	C	T	SLC7A9	c.1119G>A	NM_014270.5	NP_055085.1:p.(Ser373=)	NC_000019.9:g.33333179C>T	(Likely) benign	2 labs	cd1418580c
X:31497081 DMD T>C	X	31497081	31497081	T	C	DMD	c.8299+19A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31497081T>C	(Likely) benign	4 labs	cd1e7c1088
2:228159751 COL4A3 G>A	2	228159751	228159751	G	A	COL4A3	c.3490G>A	NM_000091.4	NP_000082.2:p.(Gly1164Ser)	NC_000002.11:g.228159751G>A	(Likely) pathogenic	2 labs	cd17c037ed
20:23030102 THBD C>T	20	23030102	23030102	C	T	THBD	c.40G>A	NM_000361.2	NP_000352.1:p.(Gly14Ser)	NC_000020.10:g.23030102C>T	(Likely) benign	2 labs	cd22ce3555
1:228503566 OBSCN G>A	1	228503566	228503566	G	A	OBSCN	c.15902G>A	NM_001271223.2	NP_001258152.2:p.(Arg5301Gln)	NC_000001.10:g.228503566G>A	(Likely) benign	2 labs	cd4c3216ab
4:122782839 BBS7 A>G	4	122782839	122782839	A	G	BBS7	c.166-5T>C	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122782839A>G	(Likely) benign	2 labs	cd391d0107
16:3297175 MEFV T>C	16	3297175	3297175	T	C	MEFV	c.1428A>G	NM_000243.3	NP_000234.1:p.(Gln476=)	NC_000016.9:g.3297175T>C	(Likely) benign	2 labs	cd60f88216
2:179606355 TTN C>G	2	179606355	179606355	C	G	TTN	c.11605G>C	NM_001267550.2	NP_001254479.2:p.(Val3869Leu)	NC_000002.11:g.179606355C>G	VUS	2 labs	cd66a0821b
19:35523612 SCN1B G>A	19	35523612	35523612	G	A	SCN1B	c.207+14G>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35523612G>A	(Likely) benign	2 labs	da5555132b
2:220493959 SLC4A3 G>A	2	220493959	220493959	G	A	SLC4A3	c.311G>A	NM_201574.3	NP_963868.3:p.(Arg104Gln)	NC_000002.11:g.220493959G>A	(Likely) benign	3 labs	cda410f7a5
20:44684856 SLC12A5 G>A	20	44684856	44684856	G	A	SLC12A5	c.2855G>A	NM_020708.5	NP_065759.1:p.(Arg952His)	NC_000020.10:g.44684856G>A	(Likely) benign	2 labs	cda263ee06
7:128494263 FLNC G>A	7	128494263	128494263	G	A	FLNC	c.6720G>A	NM_001458.4	NP_001449.3:p.(Gln2240=)	NC_000007.13:g.128494263G>A	(Likely) benign	2 labs	cdac7c73a0
16:2159173 PKD1 C>T	16	2159173	2159173	C	T	PKD1	c.5995G>A	NM_001009944.2	NP_001009944.2:p.(Gly1999Ser)	NC_000016.9:g.2159173C>T	(Likely) pathogenic	2 labs	cdafe39e41
19:38968362 RYR1 G>A	19	38968362	38968362	G	A	RYR1	c.4306G>A	NM_000540.3	NP_000531.2:p.(Val1436Met)	NC_000019.9:g.38968362G>A	VUS	3 labs	cdca1d17fd
2:21225753 APOB C>T	2	21225753	21225753	C	T	APOB	c.12541G>A	NM_000384.3	NP_000375.3:p.(Glu4181Lys)	NC_000002.11:g.21225753C>T	(Likely) benign	2 labs	d8130fd83c
10:90773948 FAS G>A	10	90773948	90773948	G	A	FAS	c.749G>A	NM_000043.4	NP_000034.1:p.(Arg250Gln)	NC_000010.10:g.90773948G>A	(Likely) pathogenic	2 labs	cdd235cc61
4:79295322 FRAS1 G>A	4	79295322	79295322	G	A	FRAS1	c.3068G>A	NM_025074.7	NP_079350.5:p.(Gly1023Glu)	NC_000004.11:g.79295322G>A	(Likely) benign	2 labs	cdf450ab69
21:47422632 COL6A1 TGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGC>T	21	47422632	47422678	TGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGC	T	COL6A1	c.2434+15_2434+54del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422639_47422678del	(Likely) benign	2 labs	cdf430f374
12:56749951 STAT2 G>T	12	56749951	56749951	G	T	STAT2	c.250C>A	NM_005419.4	NP_005410.1:p.(Gln84Lys)	NC_000012.11:g.56749951G>T	(Likely) benign	2 labs	ce00084a97
14:73664853 PSEN1 G>T	14	73664853	73664853	G	T	PSEN1	c.868+16G>T	NM_000021.4	NP_000012.1:p.?	NC_000014.8:g.73664853G>T	(Likely) benign	3 labs	d815c6a317
9:377111 DOCK8 G>C	9	377111	377111	G	C	DOCK8	c.2340G>C	NM_203447.4	NP_982272.2:p.(Leu780=)	NC_000009.11:g.377111G>C	(Likely) benign	2 labs	ce2b5b6375
7:27213380 HOXA10 C>A	7	27213380	27213380	C	A	HOXA10	c.546G>T	NM_018951.4	NP_061824.3:p.(Ser182=)	NC_000007.13:g.27213380C>A	(Likely) benign	2 labs	ce47010725
12:6439088 TNFRSF1A G>C	12	6439088	6439088	G	C	TNFRSF1A	c.913C>G	NM_001065.3	NP_001056.1:p.(Pro305Ala)	NC_000012.11:g.6439088G>C	(Likely) benign	2 labs	ce53dd5f89
14:37135753 PAX9 G>C	14	37135753	37135753	G	C	PAX9	c.718G>C	NM_006194.4	NP_006185.1:p.(Ala240Pro)	NC_000014.8:g.37135753G>C	(Likely) benign	2 labs	ce6f0535f0
6:112508816 LAMA4 C>T	6	112508816	112508816	C	T	LAMA4	c.815-13G>A	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112508816C>T	(Likely) benign	3 labs	ce6a61fd0a
X:106082584 TBC1D8B T>G	X	106082584	106082584	T	G	TBC1D8B	c.1250T>G	NM_017752.3	NP_060222.2:p.(Val417Gly)	NC_000023.10:g.106082584T>G	(Likely) benign	2 labs	ce8baa9871
X:8504833 ANOS1 C>T	X	8504833	8504833	C	T	ANOS1	c.1600G>A	NM_000216.4	NP_000207.2:p.(Val534Ile)	NC_000023.10:g.8504833C>T	(Likely) benign	2 labs	d82ab85240
2:227924330 COL4A4 C>T	2	227924330	227924330	C	T	COL4A4	c.2174G>A	NM_000092.4	NP_000083.3:p.(Gly725Asp)	NC_000002.11:g.227924330C>T	(Likely) pathogenic	2 labs	cecb553286
16:50745199 NOD2 C>T	16	50745199	50745199	C	T	NOD2	c.1377C>T	NM_022162.3	NP_071445.1:p.(Arg459=)	NC_000016.9:g.50745199C>T	(Likely) benign	2 labs	cef27a26d5
16:53721892 RPGRIP1L A>G	16	53721892	53721892	A	G	RPGRIP1L	c.530-15T>C	NM_001308334.3	NP_001295263.1:p.?	NC_000016.9:g.53721892A>G	(Likely) benign	2 labs	ced98ba5d8
16:1203917 CACNA1H G>C	16	1203917	1203917	G	C	CACNA1H	c.180G>C	NM_021098.3	NP_066921.2:p.(Ala60=)	NC_000016.9:g.1203917G>C	(Likely) benign	2 labs	cef68d2f08
12:6439470 TNFRSF1A A>G	12	6439470	6439470	A	G	TNFRSF1A	c.740-9T>C	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6439470A>G	(Likely) benign	2 labs	cf035168b0
12:988855 WNK1 G>A	12	988855	988855	G	A	WNK1	c.2490G>A	NM_018979.4	NP_061852.3:p.(Pro830=)	NC_000012.11:g.988855G>A	(Likely) benign	2 labs	cf0c82673f
3:37070324 MLH1 C>T	3	37070324	37070324	C	T	MLH1	c.1459C>T	NM_000249.4	NP_000240.1:p.(Arg487Ter)	NC_000003.11:g.37070324C>T	(Likely) pathogenic	3 labs	cf24a428d9
1:236910986 ACTN2 G>T	1	236910986	236910986	G	T	ACTN2	c.1426G>T	NM_001103.4	NP_001094.1:p.(Ala476Ser)	NC_000001.10:g.236910986G>T	VUS	2 labs	cf4260b460
11:18313469 HPS5 T>A	11	18313469	18313469	T	A	HPS5	c.1960A>T	NM_181507.1	NP_852608.1:p.(Lys654Ter)	NC_000011.9:g.18313469T>A	(Likely) pathogenic	2 labs	cf4e16c28a
17:12666408 MYOCD G>A	17	12666408	12666408	G	A	MYOCD	c.2408G>A	NM_001146312.2	NP_001139784.1:p.(Arg803Lys)	NC_000017.10:g.12666408G>A	(Likely) benign	2 labs	cf66136d5a
17:39742999 KRT14 G>A	17	39742999	39742999	G	A	KRT14	c.88C>T	NM_000526.5	NP_000517.3:p.(Arg30Cys)	NC_000017.10:g.39742999G>A	(Likely) benign	2 labs	d83bfa3749
10:102506070 PAX2 G>C	10	102506070	102506070	G	C	PAX2	c.43+10G>C	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102506070G>C	(Likely) benign	3 labs	cf8c9d01ca
16:89348715 ANKRD11 A>G	16	89348715	89348715	A	G	ANKRD11	c.4235T>C	NM_001256182.2	NP_001243111.1:p.(Ile1412Thr)	NC_000016.9:g.89348715A>G	(Likely) benign	2 labs	cf9648ce27
16:29826014 PRRT2 C>A	16	29826014	29826014	C	A	PRRT2	c.*55C>A	NM_145239.2	NP_660282.2:p.?	NC_000016.9:g.29826014C>A	(Likely) benign	2 labs	cfb525c736
2:121747635 GLI2 G>A	2	121747635	121747635	G	A	GLI2	c.4145G>A	NM_005270.5	NP_005261.2:p.(Arg1382His)	NC_000002.11:g.121747635G>A	(Likely) benign	2 labs	d8413a8613
3:123368043 MYLK T>TGG	3	123368043	123368051	T	TGG	MYLK	c.4289-4_4289-3dup	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123368050_123368051dup	(Likely) benign	2 labs	cfc4dfb0b2
5:35861068 IL7R T>C	5	35861068	35861068	T	C	IL7R	c.197T>C	NM_002185.5	NP_002176.2:p.(Ile66Thr)	NC_000005.9:g.35861068T>C	(Likely) benign	2 labs	cff0ca5fa7
5:140054652 HARS1 G>C	5	140054652	140054652	G	C	HARS1	c.1201C>G	NM_001258041.3	NP_001244970.1:p.(Leu401Val)	NC_000005.9:g.140054652G>C	(Likely) benign	2 labs	cfd982ed3c
7:47947684 PKD1L1 C>T	7	47947684	47947684	C	T	PKD1L1	c.1392G>A	NM_138295.5	NP_612152.1:p.(Val464=)	NC_000007.13:g.47947684C>T	(Likely) benign	2 labs	d00b3a14d7
5:38884151 OSMR A>G	5	38884151	38884151	A	G	OSMR	c.641A>G	NM_003999.3	NP_003990.1:p.(Tyr214Cys)	NC_000005.9:g.38884151A>G	(Likely) benign	2 labs	d010628441
X:135741185 CD40LG T>C	X	135741185	135741185	T	C	CD40LG	c.410-13T>C	NM_000074.3	NP_000065.1:p.?	NC_000023.10:g.135741185T>C	(Likely) benign	3 labs	d02131c45c
12:53455042 TNS2 A>G	12	53455042	53455042	A	G	TNS2	c.3382A>G	NM_015319.2	NP_056134.2:p.(Thr1128Ala)	NC_000012.11:g.53455042A>G	(Likely) benign	2 labs	d01f50549f
15:48580233 SLC12A1 G>A	15	48580233	48580233	G	A	SLC12A1	c.2630-7G>A	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48580233G>A	(Likely) benign	2 labs	d0266b276f
10:88428501 LDB3 AG>A	10	88428501	88428507	AG	A	LDB3	c.59del	NM_001171610.2	NP_001165081.1:p.(Gly20AlafsTer41)	NC_000010.10:g.88428507del	VUS	4 labs	d84df6114b
1:979397 AGRN G>A	1	979397	979397	G	A	AGRN	c.1678G>A	NM_001364727.2	NP_001351656.1:p.(Glu560Lys)	NC_000001.10:g.979397G>A	(Likely) benign	3 labs	d0364491a1
12:6128479 VWF A>T	12	6128479	6128479	A	T	VWF	c.4105T>A	NM_000552.4	NP_000543.2:p.(Phe1369Ile)	NC_000012.11:g.6128479A>T	(Likely) pathogenic	2 labs	d05a76d427
1:154544490 CHRNB2 G>C	1	154544490	154544490	G	C	CHRNB2	c.1191G>C	NM_000748.3	NP_000739.1:p.(Gln397His)	NC_000001.10:g.154544490G>C	(Likely) benign	2 labs	d063f44278
4:110681527 CFI C>T	4	110681527	110681527	C	T	CFI	c.782G>A	NM_000204.5	NP_000195.3:p.(Gly261Asp)	NC_000004.11:g.110681527C>T	(Likely) benign	3 labs	d07070e77c
19:42492088 ATP1A3 G>A	19	42492088	42492088	G	A	ATP1A3	c.396C>T	NM_001256214.2	NP_001243143.1:p.(Asn132=)	NC_000019.9:g.42492088G>A	(Likely) benign	4 labs	d856309185
10:85974381 CDHR1 A>G	10	85974381	85974381	A	G	CDHR1	c.*4A>G	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85974381A>G	(Likely) benign	2 labs	d85881fa2b
2:179476163 TTN G>T	2	179476163	179476163	G	T	TTN	c.23973C>A	NM_133432.3	NP_597676.3:p.(Val7991=)	NC_000002.11:g.179476163G>T	VUS	2 labs	d0c09dc4e8
2:228159666 COL4A3 T>G	2	228159666	228159666	T	G	COL4A3	c.3419-14T>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159666T>G	(Likely) benign	2 labs	d0e8883e3e
13:32912008 BRCA2 G>T	13	32912008	32912008	G	T	BRCA2	c.3516G>T	NM_000059.4	NP_000050.3:p.(Ser1172=)	NC_000013.10:g.32912008G>T	(Likely) benign	2 labs	d0db70776c
17:54912215 DGKE G>A	17	54912215	54912215	G	A	DGKE	c.59G>A	NM_003647.3	NP_003638.1:p.(Gly20Glu)	NC_000017.10:g.54912215G>A	(Likely) benign	3 labs	d0f010756a
12:13764671 GRIN2B C>T	12	13764671	13764671	C	T	GRIN2B	c.1768G>A	NM_000834.5	NP_000825.2:p.(Ala590Thr)	NC_000012.11:g.13764671C>T	(Likely) benign	2 labs	d103344b20
12:42854208 PRICKLE1 A>G	12	42854208	42854208	A	G	PRICKLE1	c.1899T>C	NM_153026.3	NP_694571.2:p.(Phe633=)	NC_000012.11:g.42854208A>G	(Likely) benign	2 labs	d11beaab09
5:153857322 HAND1 C>A	5	153857322	153857322	C	A	HAND1	c.247G>T	NM_004821.3	NP_004812.1:p.(Gly83Trp)	NC_000005.9:g.153857322C>A	(Likely) benign	2 labs	d10d238310
6:121768710 GJA1 G>A	6	121768710	121768710	G	A	GJA1	c.717G>A	NM_000165.5	NP_000156.1:p.(Arg239=)	NC_000006.11:g.121768710G>A	(Likely) benign	4 labs	d10c73bcb6
5:82815408 VCAN G>A	5	82815408	82815408	G	A	VCAN	c.1283G>A	NM_004385.5	NP_004376.2:p.(Gly428Asp)	NC_000005.9:g.82815408G>A	(Likely) benign	2 labs	d861a7fcbb
2:215820013 ABCA12 G>A	2	215820013	215820013	G	A	ABCA12	c.6306C>T	NM_173076.3	NP_775099.2:p.(Tyr2102=)	NC_000002.11:g.215820013G>A	(Likely) benign	2 labs	d14501ef79
2:47600581 EPCAM A>AT	2	47600581	47600591	A	AT	EPCAM	c.77-11dup	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47600591dup	(Likely) benign	2 labs	d13a7c9a2d
4:100515900 MTTP G>C	4	100515900	100515900	G	C	MTTP	c.769G>C	NM_000253.4	NP_000244.2:p.(Glu257Gln)	NC_000004.11:g.100515900G>C	VUS	2 labs	d86232e232
1:196642980 CFH G>A	1	196642980	196642980	G	A	CFH	c.245-7G>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196642980G>A	(Likely) benign	2 labs	d17baf75c6
19:6677979 C3 C>G	19	6677979	6677979	C	G	C3	c.4906G>C	NM_000064.4	NP_000055.2:p.(Glu1636Gln)	NC_000019.9:g.6677979C>G	VUS	2 labs	d86942fb8a
7:73450896 ELN G>A	7	73450896	73450896	G	A	ELN	c.145G>A	NM_001278939.2	NP_001265868.1:p.(Gly49Arg)	NC_000007.13:g.73450896G>A	VUS	2 labs	d1f1efc0b0
16:3293191 MEFV T>G	16	3293191	3293191	T	G	MEFV	c.2296A>C	NM_000243.2	NP_000234.1:p.(Asn766His)	NC_000016.9:g.3293191T>G	(Likely) pathogenic	2 labs	d1eff421b9
17:8133261 CTC1 G>A	17	8133261	8133261	G	A	CTC1	c.2959C>T	NM_025099.6	NP_079375.3:p.(Arg987Trp)	NC_000017.10:g.8133261G>A	(Likely) pathogenic	2 labs	d1f0bfb0c4
13:32930663 BRCA2 C>T	13	32930663	32930663	C	T	BRCA2	c.7534C>T	NM_000059.3	NP_000050.2:p.(Leu2512Phe)	NC_000013.10:g.32930663C>T	(Likely) benign	3 labs	d1fc2582d1
9:137623909 COL5A1 A>G	9	137623909	137623909	A	G	COL5A1	c.1333-8A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623909A>G	(Likely) benign	2 labs	d1ff467f60
17:61559819 ACE C>T	17	61559819	61559819	C	T	ACE	c.1119-8C>T	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61559819C>T	(Likely) benign	2 labs	d22450c082
X:100658834 GLA G>A	X	100658834	100658834	G	A	GLA	c.334C>T	NM_000169.2	NP_000160.1:p.(Arg112Cys)	NC_000023.10:g.100658834G>A	(Likely) pathogenic	2 labs	d23bfba207
11:47356715 MYBPC3 G>A	11	47356715	47356715	G	A	MYBPC3	c.2783C>T	NM_000256.3	NP_000247.2:p.(Ser928Leu)	NC_000011.9:g.47356715G>A	VUS	4 labs	d2266a7ea9
8:144999687 PLEC C>T	8	144999687	144999687	C	T	PLEC	c.4821G>A	NM_201380.4	NP_958782.1:p.(Gly1607=)	NC_000008.10:g.144999687C>T	(Likely) benign	2 labs	d24d90fdf3
16:2097709 NTHL1 C>T	16	2097709	2097709	C	T	NTHL1	c.115+1G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2097709C>T	(Likely) pathogenic	2 labs	d272e88793
13:110435766 IRS2 C>T	13	110435766	110435766	C	T	IRS2	c.2635G>A	NM_003749.3	NP_003740.2:p.(Gly879Ser)	NC_000013.10:g.110435766C>T	(Likely) benign	2 labs	d268652b77
12:52912904 KRT5 T>A	12	52912904	52912904	T	A	KRT5	c.596A>T	NM_000424.4	NP_000415.2:p.(Lys199Met)	NC_000012.11:g.52912904T>A	(Likely) pathogenic	2 labs	d87642e9d6
2:109522825 EDAR C>G	2	109522825	109522825	C	G	EDAR	c.964-1G>C	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109522825C>G	(Likely) pathogenic	2 labs	d29722ae16
1:3334448 PRDM16 G>A	1	3334448	3334448	G	A	PRDM16	c.2748G>A	NM_022114.4	NP_071397.3:p.(Ala916=)	NC_000001.10:g.3334448G>A	(Likely) benign	3 labs	d2b4616a4f
4:3076603 HTT CCAGCAG>C	4	3076603	3076662	CCAGCAG	C	HTT	c.105_116del	NM_002111.8	NP_002102.4:p.(Gln37_Gln40del)	NC_000004.11:g.3076657_3076662del	(Likely) benign	3 labs	d2c1dc1e76
19:36340175 NPHS1 C>T	19	36340175	36340175	C	T	NPHS1	c.803G>A	NM_004646.3	NP_004637.1:p.(Arg268Gln)	NC_000019.9:g.36340175C>T	(Likely) benign	2 labs	d2c841829d
15:23060841 NIPA1 G>C	15	23060841	23060841	G	C	NIPA1	c.291C>G	NM_144599.5	NP_653200.2:p.(Pro97=)	NC_000015.9:g.23060841G>C	(Likely) benign	2 labs	d2d80ec0d3
11:19209833 CSRP3 A>G	11	19209833	19209833	A	G	CSRP3	c.131T>C	NM_003476.5	NP_003467.1:p.(Leu44Pro)	NC_000011.9:g.19209833A>G	(Likely) pathogenic	5 labs	d8794cbeaf
3:38591902 SCN5A G>T	3	38591902	38591902	G	T	SCN5A	c.5961C>A	NM_001099404.2	NP_001092874.1:p.(Asn1987Lys)	NC_000003.11:g.38591902G>T	VUS	3 labs	d2dd99119f
16:2168019 PKD1 T>C	16	2168019	2168019	T	C	PKD1	c.974A>G	NM_001009944.2	NP_001009944.2:p.(Tyr325Cys)	NC_000016.9:g.2168019T>C	(Likely) pathogenic	2 labs	d2f8142ef9
10:54040670 PRKG1 C>T	10	54040670	54040670	C	T	PRKG1	c.1480C>T	NM_001098512.3	NP_001091982.1:p.(His494Tyr)	NC_000010.10:g.54040670C>T	(Likely) benign	2 labs	d32f1c39f4
7:128482949 FLNC G>A	7	128482949	128482949	G	A	FLNC	c.2491G>A	NM_001458.5	NP_001449.3:p.(Val831Ile)	NC_000007.13:g.128482949G>A	VUS	5 labs	d33215dc96
X:153295804 MECP2 C>T	X	153295804	153295804	C	T	MECP2	c.*14G>A	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153295804C>T	(Likely) benign	2 labs	d358b11020
8:144991514 PLEC G>A	8	144991514	144991514	G	A	PLEC	c.12886C>T	NM_201380.4	NP_958782.1:p.(Arg4296Cys)	NC_000008.10:g.144991514G>A	(Likely) benign	2 labs	d34dda6f2e
16:2142488 PKD1 C>G	16	2142488	2142488	C	G	PKD1	c.11262G>C	NM_001009944.2	NP_001009944.2:p.(Leu3754=)	NC_000016.9:g.2142488C>G	(Likely) benign	2 labs	d354640952
18:19345879 MIB1 C>T	18	19345879	19345879	C	T	MIB1	c.376C>T	NM_020774.4	NP_065825.1:p.(Arg126Ter)	NC_000018.9:g.19345879C>T	VUS	2 labs	d350c6e9f4
3:38495819 ACVR2B G>C	3	38495819	38495819	G	C	ACVR2B	c.6G>C	NM_001106.4	NP_001097.2:p.(Thr2=)	NC_000003.11:g.38495819G>C	(Likely) benign	2 labs	d38299e897
4:57333859 SRP72 C>T	4	57333859	57333859	C	T	SRP72	c.58C>T	NM_006947.4	NP_008878.3:p.(Arg20Trp)	NC_000004.11:g.57333859C>T	(Likely) benign	2 labs	d3973c31e5
1:196706756 CFH C>G	1	196706756	196706756	C	G	CFH	c.2748C>G	NM_000186.3	NP_000177.2:p.(Tyr916Ter)	NC_000001.10:g.196706756C>G	(Likely) pathogenic	2 labs	d3843af01c
12:110019233 MVK G>A	12	110019233	110019233	G	A	MVK	c.405G>A	NM_000431.2	NP_000422.1:p.(Ser135=)	NC_000012.11:g.110019233G>A	(Likely) benign	2 labs	d38a22c29f
5:121405805 LOX C>T	5	121405805	121405805	C	T	LOX	c.1190G>A	NM_002317.7	NP_002308.2:p.(Arg397His)	NC_000005.9:g.121405805C>T	VUS	3 labs	d3a3302d9f
11:32413566 WT1 G>A	11	32413566	32413566	G	A	WT1				NC_000011.9:g.32413566G>A	(Likely) pathogenic	2 labs	d3a8503bd2
16:70301682 AARS1 G>A	16	70301682	70301682	G	A	AARS1	c.1102C>T	NM_001605.3	NP_001596.2:p.(Pro368Ser)	NC_000016.9:g.70301682G>A	VUS	2 labs	d3aa2e9935
1:16380196 CLCNKB T>C	1	16380196	16380196	T	C	CLCNKB	c.1685T>C	NM_000085.5	NP_000076.2:p.(Met562Thr)	NC_000001.10:g.16380196T>C	(Likely) benign	2 labs	d8894ee363
X:18582659 CDKL5 A>G	X	18582659	18582659	A	G	CDKL5	c.145+17A>G	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18582659A>G	(Likely) benign	2 labs	d3d3262201
11:128709538 KCNJ1 G>A	11	128709538	128709538	G	A	KCNJ1	c.601C>T	NM_153766.3	NP_722450.1:p.(Leu201Phe)	NC_000011.9:g.128709538G>A	(Likely) pathogenic	2 labs	d88e310616
2:179454205 TTN AC>A	2	179454205	179454207	AC	A	TTN	c.62246del	NM_001267550.2	NP_001254479.2:p.(Gly20749ValfsTer7)	NC_000002.11:g.179454207del	(Likely) pathogenic	2 labs	d3eeb70a38
15:73615634 HCN4 G>A	15	73615634	73615634	G	A	HCN4	c.2800C>T	NM_005477.3	NP_005468.1:p.(Arg934Cys)	NC_000015.9:g.73615634G>A	VUS	3 labs	d890d354b5
10:69926385 MYPN C>T	10	69926385	69926385	C	T	MYPN	c.1053C>T	NM_001256268.2	NP_001243197.1:p.(Pro351=)	NC_000010.10:g.69926385C>T	(Likely) benign	5 labs	d89133edfe
11:47364602 MYBPC3 C>T	11	47364602	47364602	C	T	MYBPC3	c.1321G>A	NM_000256.3	NP_000247.2:p.(Glu441Lys)	NC_000011.9:g.47364602C>T	VUS	5 labs	d891bf9505
4:88940651 PKD2 C>T	4	88940651	88940651	C	T	PKD2	c.637C>T	NM_000297.4	NP_000288.1:p.(Arg213Ter)	NC_000004.11:g.88940651C>T	(Likely) pathogenic	2 labs	d425016a2e
20:30414528 MYLK2 G>A	20	30414528	30414528	G	A	MYLK2	c.1082+11G>A	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30414528G>A	(Likely) benign	2 labs	d4264c6535
9:97380043 FBP1 G>A	9	97380043	97380043	G	A	FBP1	c.426+7C>T	NM_000507.4	NP_000498.2:p.?	NC_000009.11:g.97380043G>A	(Likely) benign	2 labs	d8929b4f6b
16:2164864 PKD1 G>A	16	2164864	2164864	G	A	PKD1	c.2160C>T	NM_001009944.2	NP_001009944.2:p.(Asp720=)	NC_000016.9:g.2164864G>A	(Likely) benign	2 labs	d439e61ca9
16:15815260 MYH11 A>G	16	15815260	15815260	A	G	MYH11	c.4599+19T>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15815260A>G	(Likely) benign	2 labs	d429cb72f8
5:88027558 MEF2C C>T	5	88027558	88027558	C	T	MEF2C	c.798G>A	NM_002397.5	NP_002388.2:p.(Thr266=)	NC_000005.9:g.88027558C>T	(Likely) benign	2 labs	d45d5edeb6
5:171777565 SH3PXD2B C>T	5	171777565	171777565	C	T	SH3PXD2B	c.814G>A	NM_001017995.3	NP_001017995.1:p.(Ala272Thr)	NC_000005.9:g.171777565C>T	VUS	2 labs	d892e0bdb6
1:160097580 ATP1A2 C>T	1	160097580	160097580	C	T	ATP1A2				NC_000001.10:g.160097580C>T	(Likely) benign	2 labs	d44e7ce226
X:48650778 GATA1 G>A	X	48650778	48650778	G	A	GATA1	c.647G>A	NM_002049.3	NP_002040.1:p.(Arg216Gln)	NC_000023.10:g.48650778G>A	(Likely) pathogenic	2 labs	d4581b3588
17:41197792 BRCA1 A>C	17	41197792	41197792	A	C	BRCA1	c.5495T>G	NM_007294.4	NP_009225.1:p.(Val1832Gly)	NC_000017.10:g.41197792A>C	VUS	3 labs	d8964352a1
10:43615594 RET G>A	10	43615594	43615594	G	A	RET	c.2673G>A	NM_020975.4	NP_066124.1:p.(Ser891=)	NC_000010.10:g.43615594G>A	(Likely) benign	2 labs	d47f38d1c2
11:64572131 MEN1 C>T	11	64572131	64572131	C	T	MEN1	c.1523G>A	NM_130803.2	NP_570715.1:p.(Gly508Asp)	NC_000011.9:g.64572131C>T	(Likely) benign	2 labs	d48e44b008
20:62070004 KCNQ2 G>A	20	62070004	62070004	G	A	KCNQ2	c.997C>T	NM_172107.4	NP_742105.1:p.(Arg333Trp)	NC_000020.10:g.62070004G>A	(Likely) pathogenic	2 labs	d495ecdd6a
12:98926985 TMPO C>G	12	98926985	98926985	C	G	TMPO	c.950C>G	NM_003276.2	NP_003267.1:p.(Thr317Ser)	NC_000012.11:g.98926985C>G	(Likely) benign	2 labs	d4b3fed355
22:36694954 MYH9 C>G	22	36694954	36694954	C	G	MYH9	c.3100+11G>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36694954C>G	(Likely) benign	2 labs	d4b92fc1c3
7:92762432 SAMD9L A>AGTGT	7	92762432	92762436	A	AGTGT	SAMD9L	c.2849_2852dup	NM_152703.5	NP_689916.2:p.(Ser952HisfsTer2)	NC_000007.13:g.92762433_92762436dup	VUS	2 labs	d4d0c5433a
7:124465416 POT1 A>T	7	124465416	124465416	A	T	POT1	c.1687-5T>A	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124465416A>T	(Likely) benign	2 labs	d4be2791c0
16:2159316 PKD1 C>T	16	2159316	2159316	C	T	PKD1	c.5852G>A	NM_001009944.2	NP_001009944.2:p.(Arg1951Gln)	NC_000016.9:g.2159316C>T	(Likely) benign	2 labs	d4e85c239d
9:94812355 SPTLC1 T>C	9	94812355	94812355	T	C	SPTLC1	c.781-6A>G	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94812355T>C	(Likely) benign	2 labs	d4e9bb0e17
17:41223119 BRCA1 T>C	17	41223119	41223119	T	C	BRCA1	c.4812A>G	NM_007294.4	NP_009225.1:p.(Gln1604=)	NC_000017.10:g.41223119T>C	(Likely) benign	7 labs	d8a3db1e3a
16:66951619 CDH16 T>G	16	66951619	66951619	T	G	CDH16	c.55A>C	NM_004062.4	NP_004053.1:p.(Lys19Gln)	NC_000016.9:g.66951619T>G	(Likely) benign	2 labs	d51a0fc8ff
7:91852280 KRIT1 G>A	7	91852280	91852280	G	A	KRIT1	c.1267C>T	NM_004912.4	NP_004903.2:p.(Arg423Ter)	NC_000007.13:g.91852280G>A	(Likely) pathogenic	2 labs	d51f554121
12:112888157 PTPN11 A>G	12	112888157	112888157	A	G	PTPN11	c.173A>G	NM_002834.5	NP_002825.3:p.(Asn58Ser)	NC_000012.11:g.112888157A>G	VUS	2 labs	d556cb0532
17:43515255 PLEKHM1 C>T	17	43515255	43515255	C	T	PLEKHM1	c.3140G>A	NM_014798.3	NP_055613.1:p.(Arg1047His)	NC_000017.10:g.43515255C>T	(Likely) benign	2 labs	d537c6a0ea
9:94495624 ROR2 G>A	9	94495624	94495624	G	A	ROR2	c.717C>T	NM_004560.4	NP_004551.2:p.(Cys239=)	NC_000009.11:g.94495624G>A	(Likely) benign	2 labs	d54d172b6e
7:128484132 FLNC C>T	7	128484132	128484132	C	T	FLNC	c.3004C>T	NM_001458.5	NP_001449.3:p.(Arg1002Trp)	NC_000007.13:g.128484132C>T	VUS	2 labs	d55a6650f1
18:29101156 DSG2 T>G	18	29101156	29101156	T	G	DSG2	c.473T>G	NM_001943.5	NP_001934.2:p.(Val158Gly)	NC_000018.9:g.29101156T>G	(Likely) benign	4 labs	d8a6f4ad98
5:89979912 ADGRV1 A>T	5	89979912	89979912	A	T	ADGRV1	c.6174A>T	NM_032119.4	NP_115495.3:p.(Ile2058=)	NC_000005.9:g.89979912A>T	(Likely) benign	2 labs	d579ef9f96
X:153784529 IKBKG G>A	X	153784529	153784529	G	A	IKBKG	c.337G>A	NM_001099857.5	NP_001093327.1:p.(Asp113Asn)	NC_000023.10:g.153784529G>A	(Likely) benign	3 labs	d596057bf9
16:56936319 SLC12A3 C>T	16	56936319	56936319	C	T	SLC12A3	c.2782C>T	NM_000339.3	NP_000330.3:p.(Arg928Cys)	NC_000016.9:g.56936319C>T	(Likely) benign	2 labs	d59d34669d
20:60885119 LAMA5 C>A	20	60885119	60885119	C	A	LAMA5	c.10753G>T	NM_005560.4	NP_005551.3:p.(Asp3585Tyr)	NC_000020.10:g.60885119C>A	(Likely) benign	2 labs	d5b454400f
20:60886146 LAMA5 T>C	20	60886146	60886146	T	C	LAMA5	c.10093A>G	NM_005560.4	NP_005551.3:p.(Ser3365Gly)	NC_000020.10:g.60886146T>C	(Likely) benign	2 labs	d5dd69b162
X:135430504 ADGRG4 T>A	X	135430504	135430504	T	A	ADGRG4	c.4639T>A	NM_153834.4	NP_722576.3:p.(Cys1547Ser)	NC_000023.10:g.135430504T>A	(Likely) benign	2 labs	d5e028e40b
2:179454957 TTN G>A	2	179454957	179454957	G	A	TTN	c.61495C>T	NM_001267550.2	NP_001254479.2:p.(Arg20499Ter)	NC_000002.11:g.179454957G>A	(Likely) pathogenic	2 labs	d8a86441b8
2:179400517 TTN G>A	2	179400517	179400517	G	A	TTN	c.74005C>T	NM_133432.3	NP_597676.3:p.(Arg24669Ter)	NC_000002.11:g.179400517G>A	(Likely) pathogenic	2 labs	d6434b232d
12:103271235 PAH C>A	12	103271235	103271235	C	A	PAH	c.441+5G>T	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103271235C>A	(Likely) pathogenic	2 labs	d64f53f39f
2:228158021 COL4A3 C>T	2	228158021	228158021	C	T	COL4A3	c.3325C>T	NM_000091.4	NP_000082.2:p.(Pro1109Ser)	NC_000002.11:g.228158021C>T	(Likely) benign	2 labs	d664a32a5c
2:179527746 TTN T>A	2	179527746	179527746	T	A	TTN	c.36737A>T	NM_001267550.2	NP_001254479.2:p.(Glu12246Val)	NC_000002.11:g.179527746T>A	VUS	2 labs	d8b24e1d74
19:33968991 PEPD T>A	19	33968991	33968991	T	A	PEPD	c.509A>T	NM_000285.4	NP_000276.2:p.(Glu170Val)	NC_000019.9:g.33968991T>A	(Likely) benign	3 labs	d67c1815d6
7:66460278 SBDS C>A	7	66460278	66460278	C	A	SBDS	c.127G>T	NM_016038.2	NP_057122.2:p.(Val43Leu)	NC_000007.13:g.66460278C>A	(Likely) benign	2 labs	d68053eec3
9:94486693 ROR2 C>T	9	94486693	94486693	C	T	ROR2	c.2083G>A	NM_004560.4	NP_004551.2:p.(Gly695Arg)	NC_000009.11:g.94486693C>T	(Likely) benign	2 labs	d698b75a57
19:13325415 CACNA1A G>A	19	13325415	13325415	G	A	CACNA1A	c.5757C>T	NM_023035.3	NP_075461.2:p.(Ala1919=)	NC_000019.9:g.13325415G>A	(Likely) benign	2 labs	d69af5e4bc
2:8930128 KIDINS220 T>C	2	8930128	8930128	T	C	KIDINS220	c.1503A>G	NM_020738.4	NP_065789.1:p.(Ile501Met)	NC_000002.11:g.8930128T>C	(Likely) benign	2 labs	d688f5cc5b
10:95931087 PLCE1 G>T	10	95931087	95931087	G	T	PLCE1	c.1643G>T	NM_016341.4	NP_057425.3:p.(Arg548Leu)	NC_000010.10:g.95931087G>T	(Likely) benign	3 labs	d6cc509396
7:6026827 PMS2 G>C	7	6026827	6026827	G	C	PMS2	c.1569C>G	NM_000535.7	NP_000526.2:p.(Ser523=)	NC_000007.13:g.6026827G>C	(Likely) benign	5 labs	d8b65fac87
22:50887014 SBF1 C>T	22	50887014	50887014	C	T	SBF1	c.5109G>A	NM_002972.4	NP_002963.2:p.(Arg1703=)	NC_000022.10:g.50887014C>T	(Likely) benign	2 labs	d6b092d1f4
16:49670026 ZNF423 G>A	16	49670026	49670026	G	A	ZNF423	c.2857C>T	NM_001271620.2	NP_001258549.1:p.(Leu953=)	NC_000016.9:g.49670026G>A	(Likely) benign	2 labs	d6c576f070
14:76524970 IFT43 CT>C	14	76524970	76524981	CT	C	IFT43	c.216-4del	NM_001255995.3	NP_001242924.1:p.?	NC_000014.8:g.76524981del	(Likely) benign	2 labs	d6e0bf8bb3
12:6125397 VWF C>A	12	6125397	6125397	C	A	VWF	c.5313G>T	NM_000552.4	NP_000543.2:p.(Gly1771=)	NC_000012.11:g.6125397C>A	(Likely) benign	2 labs	d6e529eda2
11:6638668 TPP1 C>CA	11	6638668	6638669	C	CA	TPP1	c.381-10dup	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6638669dup	(Likely) benign	2 labs	d8896f2700
4:78989716 FRAS1 T>C	4	78989716	78989716	T	C	FRAS1	c.108+2546T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78989716T>C	(Likely) benign	2 labs	d72825c0e3
6:52288777 EFHC1 T>C	6	52288777	52288777	T	C	EFHC1	c.97T>C	NM_018100.4	NP_060570.2:p.(Tyr33His)	NC_000006.11:g.52288777T>C	(Likely) benign	2 labs	d7392f30c8
8:143996177 CYP11B2 A>G	8	143996177	143996177	A	G	CYP11B2	c.743T>C	NM_000498.3	NP_000489.3:p.(Ile248Thr)	NC_000008.10:g.143996177A>G	(Likely) benign	3 labs	d736ec5b93
14:68256245 ZFYVE26 C>T	14	68256245	68256245	C	T	ZFYVE26	c.2826G>A	NM_015346.3	NP_056161.2:p.(Met942Ile)	NC_000014.8:g.68256245C>T	(Likely) benign	2 labs	d743f66d29
12:21623284 RECQL C>CAA	12	21623284	21623300	C	CAA	RECQL	c.1798-6_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623299_21623300dup	(Likely) benign	2 labs	d74f5d10fd
1:228559654 OBSCN G>A	1	228559654	228559654	G	A	OBSCN	c.24046G>A	NM_001271223.2	NP_001258152.2:p.(Gly8016Ser)	NC_000001.10:g.228559654G>A	(Likely) benign	2 labs	d75c7af640
1:237955364 RYR2 A>G	1	237955364	237955364	A	G	RYR2	c.13564-41A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237955364A>G	(Likely) benign	2 labs	d75f91a5fc
2:220115512 TUBA4A T>C	2	220115512	220115512	T	C	TUBA4A	c.864A>G	NM_001278552.2	NP_001265481.1:p.(Val288=)	NC_000002.11:g.220115512T>C	(Likely) benign	2 labs	d761b4fe1b
2:228111412 COL4A3 G>A	2	228111412	228111412	G	A	COL4A3	c.399G>A	NM_000091.4	NP_000082.2:p.(Gly133=)	NC_000002.11:g.228111412G>A	(Likely) benign	2 labs	d778b322ff
2:179452737 TTN T>C	2	179452737	179452737	T	C	TTN	c.36577A>G	NM_133432.3	NP_597676.3:p.(Thr12193Ala)	NC_000002.11:g.179452737T>C	VUS	2 labs	d793a258a7
9:139402738 NOTCH1 C>T	9	139402738	139402738	C	T	NOTCH1	c.3271G>A	NM_017617.5	NP_060087.3:p.(Gly1091Ser)	NC_000009.11:g.139402738C>T	VUS	3 labs	d7944d1d44
17:72745313 NHERF1 C>G	17	72745313	72745313	C	G	NHERF1	c.328C>G	NM_004252.5	NP_004243.1:p.(Leu110Val)	NC_000017.10:g.72745313C>G	(Likely) benign	3 labs	d7a80b47b3
7:143042837 CLCN1 C>T	7	143042837	143042837	C	T	CLCN1	c.2154C>T	NM_000083.3	NP_000074.3:p.(Asp718=)	NC_000007.13:g.143042837C>T	(Likely) benign	2 labs	d7b7ae7d07
11:108195976 ATM GTT>G	11	108195976	108195995	GTT	G	ATM	c.6573-43_6573-42del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195994_108195995del	(Likely) benign	3 labs	d7ba74565d
13:32899388 BRCA2 A>C	13	32899388	32899388	A	C	BRCA2	c.425+67A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32899388A>C	(Likely) benign	4 labs	d7d48fdf79
12:103238017 PAH C>T	12	103238017	103238017	C	T	PAH	c.1065+97G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103238017C>T	(Likely) benign	2 labs	d7e38c0186
2:73679087 ALMS1 G>C	2	73679087	73679087	G	C	ALMS1	c.5436G>C	NM_015120.4	NP_055935.4:p.(Lys1812Asn)	NC_000002.11:g.73679087G>C	(Likely) benign	3 labs	d7fb3e3eea
2:39224148 SOS1 T>C	2	39224148	39224148	T	C	SOS1	c.2996A>G	NM_005633.3	NP_005624.2:p.(Asn999Ser)	NC_000002.11:g.39224148T>C	(Likely) benign	2 labs	d82f576696
9:138594203 KCNT1 A>G	9	138594203	138594203	A	G	KCNT1	c.99A>G	NM_020822.3	NP_065873.2:p.(Gln33=)	NC_000009.11:g.138594203A>G	(Likely) benign	2 labs	d85266f8f3
11:22242721 ANO5 G>A	11	22242721	22242721	G	A	ANO5	c.259G>A	NM_213599.2	NP_998764.1:p.(Val87Ile)	NC_000011.9:g.22242721G>A	(Likely) benign	2 labs	d84038f414
12:64882317 TBK1 T>C	12	64882317	64882317	T	C	TBK1	c.1391T>C	NM_013254.4	NP_037386.1:p.(Val464Ala)	NC_000012.11:g.64882317T>C	(Likely) benign	2 labs	d83071bad0
22:43015795 CYB5R3 C>T	22	43015795	43015795	C	T	CYB5R3	c.890G>A	NM_000398.7	NP_000389.1:p.(Arg297His)	NC_000022.10:g.43015795C>T	(Likely) benign	2 labs	d872c3cb09
11:123513272 SCN3B G>A	11	123513272	123513272	G	A	SCN3B	c.327C>T	NM_018400.3	NP_060870.1:p.(Asn109=)	NC_000011.9:g.123513272G>A	(Likely) benign	2 labs	d88b26dd7a
X:153170995 AVPR2 G>A	X	153170995	153170995	G	A	AVPR2	c.35G>A	NM_001146151.3	NP_001139623.1:p.(Gly12Glu)	NC_000023.10:g.153170995G>A	(Likely) benign	3 labs	d88ecc96eb
2:214013321 IKZF2 C>T	2	214013321	214013321	C	T	IKZF2	c.33G>A	NM_001079526.2	NP_001072994.1:p.(Thr11=)	NC_000002.11:g.214013321C>T	(Likely) benign	2 labs	d895676763
2:227927264 COL4A4 C>T	2	227927264	227927264	C	T	COL4A4	c.2038G>A	NM_000092.4	NP_000083.3:p.(Gly680Ser)	NC_000002.11:g.227927264C>T	(Likely) pathogenic	2 labs	d8989509df
8:133192521 KCNQ3 A>G	8	133192521	133192521	A	G	KCNQ3	c.660T>C	NM_004519.4	NP_004510.1:p.(Asn220=)	NC_000008.10:g.133192521A>G	(Likely) benign	2 labs	d8a9fb6966
20:60907540 LAMA5 TG>T	20	60907540	60907546	TG	T	LAMA5	c.3444-5del	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60907546del	(Likely) benign	2 labs	d8ab14f740
9:14737506 FREM1 T>G	9	14737506	14737506	T	G	FREM1	c.6428A>C	NM_144966.7	NP_659403.4:p.(Gln2143Pro)	NC_000009.11:g.14737506T>G	(Likely) benign	2 labs	d8c17bd194
1:201328913 TNNT2 G>C	1	201328913	201328913	G	C	TNNT2	c.802-122C>G	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201328913G>C	(Likely) benign	2 labs	d8f9416401
16:2098578 TSC2 G>C	16	2098578	2098578	G	C	TSC2	c.-29-10G>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2098578G>C	(Likely) benign	3 labs	d8d2f7982a
1:3103003 PRDM16 C>T	1	3103003	3103003	C	T	PRDM16	c.352C>T	NM_022114.4	NP_071397.3:p.(Arg118Trp)	NC_000001.10:g.3103003C>T	VUS	2 labs	d8d463eb45
19:6712504 C3 C>T	19	6712504	6712504	C	T	C3	c.1119+15G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6712504C>T	(Likely) benign	2 labs	d9453b3f17
10:103530239 FGF8 C>T	10	103530239	103530239	C	T	FGF8	c.549G>A	NM_033164.4	NP_149354.1:p.(Thr183=)	NC_000010.10:g.103530239C>T	(Likely) benign	2 labs	d93fcc27a0
1:78401664 NEXN G>C	1	78401664	78401664	G	C	NEXN	c.1408G>C	NM_144573.4	NP_653174.3:p.(Glu470Gln)	NC_000001.10:g.78401664G>C	(Likely) benign	2 labs	d8d735ffd5
19:12772165 MAN2B1 G>A	19	12772165	12772165	G	A	MAN2B1	c.935C>T	NM_000528.4	NP_000519.2:p.(Thr312Ile)	NC_000019.9:g.12772165G>A	(Likely) benign	2 labs	d8d8a18f1a
2:179584545 TTN T>C	2	179584545	179584545	T	C	TTN	c.23674A>G	NM_001267550.2	NP_001254479.2:p.(Ile7892Val)	NC_000002.11:g.179584545T>C	VUS	2 labs	d95b27d55d
6:76617414 MYO6 A>G	6	76617414	76617414	A	G	MYO6	c.3269A>G	NM_004999.4	NP_004990.3:p.(Asn1090Ser)	NC_000006.11:g.76617414A>G	VUS	2 labs	d980303e35
11:45936035 PEX16 G>A	11	45936035	45936035	G	A	PEX16	c.542-16C>T	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45936035G>A	(Likely) benign	2 labs	d8d8a42556
1:198691595 PTPRC T>A	1	198691595	198691595	T	A	PTPRC	c.1710T>A	NM_002838.5	NP_002829.3:p.(His570Gln)	NC_000001.10:g.198691595T>A	(Likely) benign	2 labs	d9bb4c29c0
6:51640639 PKHD1 T>C	6	51640639	51640639	T	C	PKHD1	c.8521A>G	NM_138694.4	NP_619639.3:p.(Met2841Val)	NC_000006.11:g.51640639T>C	(Likely) benign	2 labs	d9e5492ed4
17:42335135 SLC4A1 C>T	17	42335135	42335135	C	T	SLC4A1	c.1323G>A	NM_000342.4	NP_000333.1:p.(Leu441=)	NC_000017.10:g.42335135C>T	(Likely) benign	2 labs	d9e666abde
11:118220583 CD3G A>T	11	118220583	118220583	A	T	CD3G	c.205A>T	NM_000073.2	NP_000064.1:p.(Lys69Ter)	NC_000011.9:g.118220583A>T	(Likely) pathogenic	2 labs	da03147802
4:4864563 MSX1 G>A	4	4864563	4864563	G	A	MSX1	c.605G>A	NM_002448.3	NP_002439.2:p.(Arg202His)	NC_000004.11:g.4864563G>A	(Likely) pathogenic	2 labs	da1491c102
10:75832527 VCL A>G	10	75832527	75832527	A	G	VCL	c.539A>G	NM_014000.2	NP_054706.1:p.(Gln180Arg)	NC_000010.10:g.75832527A>G	VUS	3 labs	da20dd7883
9:35068364 VCP A>G	9	35068364	35068364	A	G	VCP	c.18-5T>C	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35068364A>G	(Likely) benign	2 labs	da203b28ef
3:77530247 ROBO2 C>T	3	77530247	77530247	C	T	ROBO2	c.547-3C>T	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77530247C>T	(Likely) benign	2 labs	da2575f5a1
2:227976450 COL4A4 T>C	2	227976450	227976450	T	C	COL4A4	c.559-21A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227976450T>C	(Likely) benign	2 labs	da312cc6b3
20:60887356 LAMA5 G>A	20	60887356	60887356	G	A	LAMA5	c.9377C>T	NM_005560.4	NP_005551.3:p.(Thr3126Ile)	NC_000020.10:g.60887356G>A	(Likely) benign	2 labs	da31508b3f
7:98991711 ARPC1B T>G	7	98991711	98991711	T	G	ARPC1B	c.1049T>G	NM_005720.4	NP_005711.1:p.(Met350Arg)	NC_000007.13:g.98991711T>G	(Likely) benign	2 labs	da37934dee
2:191859931 STAT1 G>A	2	191859931	191859931	G	A	STAT1	c.800C>T	NM_007315.3	NP_009330.1:p.(Ala267Val)	NC_000002.11:g.191859931G>A	(Likely) pathogenic	2 labs	da4498823d
16:56936272 SLC12A3 T>C	16	56936272	56936272	T	C	SLC12A3	c.2748-13T>C	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56936272T>C	(Likely) benign	2 labs	da471167a1
13:110830258 COL4A1 C>T	13	110830258	110830258	C	T	COL4A1	c.2647G>A	NM_001845.6	NP_001836.3:p.(Val883Ile)	NC_000013.10:g.110830258C>T	(Likely) benign	2 labs	da55162296
1:229568632 ACTA1 A>G	1	229568632	229568632	A	G	ACTA1	c.130-5T>C	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229568632A>G	(Likely) benign	2 labs	da90cf0829
2:170063263 LRP2 G>A	2	170063263	170063263	G	A	LRP2	c.6967C>T	NM_004525.3	NP_004516.2:p.(Leu2323=)	NC_000002.11:g.170063263G>A	(Likely) benign	2 labs	da921ac3c7
19:7184651 INSR GGAGA>G	19	7184651	7184672	GGAGA	G	INSR	c.653-7_653-4del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184669_7184672del	(Likely) benign	2 labs	dab0aaeacd
13:32893405 BRCA2 ACT>A	13	32893405	32893409	ACT	A	BRCA2	c.262_263del	NM_000059.4	NP_000050.3:p.(Leu88AlafsTer12)	NC_000013.10:g.32893408_32893409del	(Likely) pathogenic	3 labs	d8eaf2d430
16:1267915 CACNA1H G>A	16	1267915	1267915	G	A	CACNA1H	c.5324-4G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1267915G>A	(Likely) benign	2 labs	daba25ea03
13:32950933 BRCA2 G>A	13	32950933	32950933	G	A	BRCA2	c.8754+5G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950933G>A	(Likely) pathogenic	6 labs	d8ef627ab4
21:47407362 COL6A1 C>T	21	47407362	47407362	C	T	COL6A1	c.739-51C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47407362C>T	(Likely) benign	2 labs	dabb5e6549
13:32973012 BRCA2 A>C	13	32973012	32973012	A	C	BRCA2	c.*105A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32973012A>C	(Likely) benign	3 labs	dacdc61899
5:147484535 SPINK5 G>A	5	147484535	147484535	G	A	SPINK5	c.1451G>A	NM_001127698.2	NP_001121170.1:p.(Arg484Lys)	NC_000005.9:g.147484535G>A	(Likely) benign	2 labs	daed4789fd
19:45856553 ERCC2 TAA>T	19	45856553	45856556	TAA	T	ERCC2	c.1703_1704del	NM_000400.4	NP_000391.1:p.(Phe568TyrfsTer2)	NC_000019.9:g.45856555_45856556del	(Likely) pathogenic	2 labs	daf035a19d
15:73027466 BBS4 A>G	15	73027466	73027466	A	G	BBS4	c.1049A>G	NM_033028.5	NP_149017.2:p.(Asn350Ser)	NC_000015.9:g.73027466A>G	(Likely) benign	2 labs	dae7c65445
1:237798226 RYR2 G>A	1	237798226	237798226	G	A	RYR2	c.6726G>A	NM_001035.3	NP_001026.2:p.(Val2242=)	NC_000001.10:g.237798226G>A	(Likely) benign	2 labs	daf1b59c04
1:1456007 ATAD3A C>T	1	1456007	1456007	C	T	ATAD3A	c.750+10C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1456007C>T	(Likely) benign	2 labs	dafcacd5dd
6:51609303 PKHD1 A>G	6	51609303	51609303	A	G	PKHD1	c.10036T>C	NM_138694.4	NP_619639.3:p.(Cys3346Arg)	NC_000006.11:g.51609303A>G	VUS	2 labs	db185c24ab
12:103246592 PAH C>T	12	103246592	103246592	C	T	PAH	c.842+1G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103246592C>T	(Likely) pathogenic	2 labs	db19d9a4a8
10:60549058 BICC1 A>G	10	60549058	60549058	A	G	BICC1	c.637A>G	NM_001080512.3	NP_001073981.1:p.(Ile213Val)	NC_000010.10:g.60549058A>G	(Likely) benign	2 labs	db291ff513
19:38968461 RYR1 C>T	19	38968461	38968461	C	T	RYR1	c.4405C>T	NM_000540.2	NP_000531.2:p.(Arg1469Trp)	NC_000019.9:g.38968461C>T	VUS	3 labs	db35e57451
2:228137824 COL4A3 G>A	2	228137824	228137824	G	A	COL4A3	c.1918G>A	NM_000091.4	NP_000082.2:p.(Gly640Arg)	NC_000002.11:g.228137824G>A	(Likely) pathogenic	2 labs	db5d868e16
12:110028653 MVK A>G	12	110028653	110028653	A	G	MVK	c.755A>G	NM_000431.2	NP_000422.1:p.(Asn252Ser)	NC_000012.11:g.110028653A>G	VUS	2 labs	db73cf397b
19:6711028 C3 G>A	19	6711028	6711028	G	A	C3	c.1449C>T	NM_000064.2	NP_000055.2:p.(His483=)	NC_000019.9:g.6711028G>A	(Likely) benign	2 labs	db9ba260f5
1:196879594 CFHR4 C>T	1	196879594	196879594	C	T	CFHR4	c.983C>T	NM_001201550.3	NP_001188479.1:p.(Thr328Ile)	NC_000001.10:g.196879594C>T	(Likely) benign	2 labs	db9da1d2d2
19:6697466 C3 G>A	19	6697466	6697466	G	A	C3	c.2685C>T	NM_000064.2	NP_000055.2:p.(Ser895=)	NC_000019.9:g.6697466G>A	(Likely) benign	2 labs	dbc5e6cdc3
11:108183167 ATM A>G	11	108183167	108183167	A	G	ATM	c.5948=	NM_000051.4	NP_000042.3:p.(Ser1983=)	NC_000011.9:g.108183167A>G	(Likely) benign	3 labs	d9074ec738
16:2164317 PKD1 T>C	16	2164317	2164317	T	C	PKD1	c.2707A>G	NM_001009944.2	NP_001009944.2:p.(Ser903Gly)	NC_000016.9:g.2164317T>C	(Likely) benign	2 labs	dbe76439cc
20:43043143 HNF4A G>A	20	43043143	43043143	G	A	HNF4A	c.418-4G>A	NM_001287182.2	NP_001274111.1:p.?	NC_000020.10:g.43043143G>A	(Likely) benign	2 labs	dbebafa22e
17:76130575 TMC8 A>T	17	76130575	76130575	A	T	TMC8	c.917A>T	NM_152468.5	NP_689681.2:p.(Asn306Ile)	NC_000017.10:g.76130575A>T	(Likely) benign	2 labs	d90b055dc0
20:23615951 CST3 ACACGTGGTTCGGCCCAGCTC>A	20	23615951	23615976	ACACGTGGTTCGGCCCAGCTC	A	CST3	c.277_296del	NM_000099.4	NP_000090.1:p.(Glu93TyrfsTer14)	NC_000020.10:g.23615957_23615976del	VUS	2 labs	dbf83880a2
7:94030856 COL1A2 A>AT	7	94030856	94030868	A	AT	COL1A2	c.226-11dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94030868dup	(Likely) benign	2 labs	dc45a5f083
1:236907966 ACTN2 G>A	1	236907966	236907966	G	A	ACTN2	c.672G>A	NM_001278344.2	NP_001265273.1:p.(Ala224=)	NC_000001.10:g.236907966G>A	(Likely) benign	2 labs	dc5655c561
13:32972760 BRCA2 G>A	13	32972760	32972760	G	A	BRCA2	c.10110G>A	NM_000059.4	NP_000050.3:p.(Arg3370=)	NC_000013.10:g.32972760G>A	(Likely) benign	7 labs	d920aa461d
7:128481346 FLNC G>A	7	128481346	128481346	G	A	FLNC	c.1936G>A	NM_001458.4	NP_001449.3:p.(Asp646Asn)	NC_000007.13:g.128481346G>A	VUS	2 labs	dc6cf369c1
4:110667601 CFI G>A	4	110667601	110667601	G	A	CFI	c.1206C>T	NM_000204.3	NP_000195.2:p.(Pro402=)	NC_000004.11:g.110667601G>A	(Likely) benign	2 labs	dc817bd460
2:227985859 COL4A4 T>C	2	227985859	227985859	T	C	COL4A4	c.198A>G	NM_000092.4	NP_000083.3:p.(Pro66=)	NC_000002.11:g.227985859T>C	(Likely) benign	2 labs	dc8c5f6c79
14:67291261 GPHN G>A	14	67291261	67291261	G	A	GPHN	c.271G>A	NM_020806.5	NP_065857.1:p.(Ala91Thr)	NC_000014.8:g.67291261G>A	VUS	2 labs	d924d2a170
7:128471053 FLNC G>A	7	128471053	128471053	G	A	FLNC	c.352+10G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128471053G>A	(Likely) benign	2 labs	dc8d061387
14:23852443 MYH6 G>A	14	23852443	23852443	G	A	MYH6	c.5652C>T	NM_002471.4	NP_002462.2:p.(Ala1884=)	NC_000014.8:g.23852443G>A	(Likely) benign	5 labs	d9324197d3
2:73679866 ALMS1 T>C	2	73679866	73679866	T	C	ALMS1	c.6215T>C	NM_015120.4	NP_055935.4:p.(Ile2072Thr)	NC_000002.11:g.73679866T>C	(Likely) benign	2 labs	d933acf554
3:14173135 TMEM43 A>G	3	14173135	14173135	A	G	TMEM43	c.353A>G	NM_024334.3	NP_077310.1:p.(His118Arg)	NC_000003.11:g.14173135A>G	VUS	2 labs	dcbf33a2e3
9:138651532 KCNT1 G>A	9	138651532	138651532	G	A	KCNT1	c.862G>A	NM_020822.2	NP_065873.2:p.(Gly288Ser)	NC_000009.11:g.138651532G>A	(Likely) pathogenic	2 labs	dcc3dae42b
17:63533789 AXIN2 T>C	17	63533789	63533789	T	C	AXIN2	c.1365A>G	NM_004655.4	NP_004646.3:p.(Pro455=)	NC_000017.10:g.63533789T>C	(Likely) benign	2 labs	d936b3eb79
10:97453655 TCTN3 A>C	10	97453655	97453655	A	C	TCTN3	c.2T>G	NM_015631.6	NP_056446.4:p.(Met1?)	NC_000010.10:g.97453655A>C	(Likely) pathogenic	3 labs	dcd70aff6c
7:139715542 TBXAS1 C>G	7	139715542	139715542	C	G	TBXAS1	c.1246C>G	NM_001061.7	NP_001052.3:p.(Gln416Glu)	NC_000007.13:g.139715542C>G	(Likely) benign	2 labs	dce540914c
2:152473986 NEB C>CA	2	152473986	152474002	C	CA	NEB	c.11077-5dup	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152474002dup	(Likely) benign	3 labs	dcd11a7e13
4:151683003 LRBA TA>T	4	151683003	151683013	TA	T	LRBA	c.5581-5del	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151683013del	(Likely) benign	2 labs	dcf2d9776a
21:45708355 AIRE C>T	21	45708355	45708355	C	T	AIRE				NC_000021.8:g.45708355C>T	(Likely) benign	2 labs	dd0ed153b1
3:145796891 PLOD2 T>C	3	145796891	145796891	T	C	PLOD2	c.1500+12A>G	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145796891T>C	(Likely) benign	2 labs	d9379f8b95
16:2166845 PKD1 A>C	16	2166845	2166845	A	C	PKD1	c.1595T>G	NM_001009944.2	NP_001009944.2:p.(Leu532Arg)	NC_000016.9:g.2166845A>C	VUS	2 labs	dd424af752
5:39342214 C9 G>A	5	39342214	39342214	G	A	C9	c.162C>T	NM_001737.5	NP_001728.1:p.(Cys54=)	NC_000005.9:g.39342214G>A	(Likely) benign	2 labs	dd56d39dff
8:144999264 PLEC C>T	8	144999264	144999264	C	T	PLEC	c.5244G>A	NM_201380.4	NP_958782.1:p.(Glu1748=)	NC_000008.10:g.144999264C>T	(Likely) benign	2 labs	dd66e1b061
1:6529182 PLEKHG5 TTCC>T	1	6529182	6529208	TTCC	T	PLEKHG5	c.2166_2168del	NM_198681.4	NP_941374.3:p.(Glu723del)	NC_000001.10:g.6529206_6529208del	(Likely) benign	2 labs	dd60c550cc
9:98239023 PTCH1 CTTT>C	9	98239023	98239027	CTTT	C	PTCH1	c.1404+15_1404+17del	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98239025_98239027del	(Likely) benign	3 labs	da94bcb59f
2:179457105 TTN C>T	2	179457105	179457105	C	T	TTN	c.59626+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179457105C>T	(Likely) pathogenic	2 labs	da9baf00b1
5:38493836 LIFR G>T	5	38493836	38493836	G	T	LIFR	c.1937C>A	NM_001127671.2	NP_001121143.1:p.(Thr646Asn)	NC_000005.9:g.38493836G>T	(Likely) benign	3 labs	dd8e1d9e07
17:43531647 PLEKHM1 A>G	17	43531647	43531647	A	G	PLEKHM1	c.1580-9T>C	NM_014798.3	NP_055613.1:p.?	NC_000017.10:g.43531647A>G	(Likely) benign	2 labs	ddb6a3fadd
8:55371891 SOX17 T>C	8	55371891	55371891	T	C	SOX17	c.581T>C	NM_022454.4	NP_071899.1:p.(Leu194Pro)	NC_000008.10:g.55371891T>C	(Likely) benign	2 labs	ddc7ff0325
15:80472572 FAH G>A	15	80472572	80472572	G	A	FAH	c.1062+5G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80472572G>A	(Likely) pathogenic	3 labs	ddd2250394
2:179644035 TTN G>A	2	179644035	179644035	G	A	TTN	c.3884C>T	NM_001267550.2	NP_001254479.2:p.(Ser1295Leu)	NC_000002.11:g.179644035G>A	(Likely) benign	5 labs	daa10d0ce0
16:2159861 PKD1 A>G	16	2159861	2159861	A	G	PKD1	c.5307T>C	NM_001009944.2	NP_001009944.2:p.(His1769=)	NC_000016.9:g.2159861A>G	(Likely) benign	2 labs	ddf224e490
7:36465606 ANLN C>CT	7	36465606	36465621	C	CT	ANLN	c.2749-3dup	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36465621dup	(Likely) benign	2 labs	ddf5070811
14:88407716 GALC T>TA	14	88407716	88407729	T	TA	GALC	c.1834+22dup	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88407729dup	(Likely) benign	2 labs	daa616752d
19:38985104 RYR1 C>T	19	38985104	38985104	C	T	RYR1	c.6387C>T	NM_000540.2	NP_000531.2:p.(Asp2129=)	NC_000019.9:g.38985104C>T	(Likely) benign	2 labs	de332e7dd7
5:176814822 SLC34A1 A>C	5	176814822	176814822	A	C	SLC34A1	c.592A>C	NM_003052.5	NP_003043.3:p.(Thr198Pro)	NC_000005.9:g.176814822A>C	VUS	2 labs	de3db7f08e
20:3063789 AVP G>C	20	3063789	3063789	G	C	AVP	c.156C>G	NM_000490.4	NP_000481.2:p.(Cys52Trp)	NC_000020.10:g.3063789G>C	(Likely) pathogenic	2 labs	de6fe731b4
1:156107534 LMNA C>T	1	156107534	156107534	C	T	LMNA	c.1698C>T	NM_170707.4	NP_733821.1:p.(His566=)	NC_000001.10:g.156107534C>T	(Likely) benign	5 labs	dab1a1ef37
2:152420120 NEB C>G	2	152420120	152420120	C	G	NEB	c.18693G>C	NM_001271208.1	NP_001258137.1:p.(Ala6231=)	NC_000002.11:g.152420120C>G	(Likely) benign	2 labs	de9cc1c4c2
17:41256141 BRCA1 A>G	17	41256141	41256141	A	G	BRCA1	c.439T>C	NM_007300.4	NP_009231.2:p.(Leu147=)	NC_000017.10:g.41256141A>G	(Likely) benign	4 labs	dea569d89e
11:64527370 PYGM T>C	11	64527370	64527370	T	C	PYGM				NC_000011.9:g.64527370T>C	(Likely) pathogenic	3 labs	de8ece0d9b
2:179585368 TTN C>T	2	179585368	179585368	C	T	TTN	c.23121G>A	NM_001267550.2	NP_001254479.2:p.(Lys7707=)	NC_000002.11:g.179585368C>T	(Likely) benign	5 labs	dab4576cfb
16:68867273 CDH1 C>T	16	68867273	68867273	C	T	CDH1	c.2520C>T	NM_004360.5	NP_004351.1:p.(Ser840=)	NC_000016.9:g.68867273C>T	(Likely) benign	2 labs	dab4fb97be
9:131709581 DOLK A>AT	9	131709581	131709582	A	AT	DOLK	c.1dup	NM_014908.3	NP_055723.1:p.(Met1?)	NC_000009.11:g.131709582dup	(Likely) benign	2 labs	ded928fbfb
15:48763000 FBN1 T>TA	15	48763000	48763008	T	TA	FBN1	c.4337-48dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48763008dup	(Likely) benign	3 labs	debb5f428a
3:14177425 TMEM43 A>G	3	14177425	14177425	A	G	TMEM43	c.882+17A>G	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14177425A>G	(Likely) benign	2 labs	dec086dfdb
7:47913548 PKD1L1 A>T	7	47913548	47913548	A	T	PKD1L1	c.3845T>A	NM_138295.5	NP_612152.1:p.(Val1282Glu)	NC_000007.13:g.47913548A>T	(Likely) benign	2 labs	deda4b598d
6:56463410 DST T>C	6	56463410	56463410	T	C	DST	c.5435A>G	NM_001144769.5	NP_001138241.1:p.(Gln1812Arg)	NC_000006.11:g.56463410T>C	(Likely) benign	2 labs	dabcbbedd7
1:92948551 GFI1 G>A	1	92948551	92948551	G	A	GFI1	c.168C>T	NM_005263.5	NP_005254.2:p.(Ser56=)	NC_000001.10:g.92948551G>A	(Likely) benign	3 labs	df4dcfbb07
19:55668029 TNNI3 G>T	19	55668029	55668029	G	T	TNNI3	c.109-17C>A	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668029G>T	(Likely) benign	5 labs	daca5c7705
2:227895359 COL4A4 A>T	2	227895359	227895359	A	T	COL4A4	c.3818-45T>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227895359A>T	(Likely) benign	2 labs	df7bf3bed7
2:179453427 TTN G>A	2	179453427	179453427	G	A	TTN	c.63025C>T	NM_001267550.1	NP_001254479.1:p.(Arg21009Ter)	NC_000002.11:g.179453427G>A	(Likely) pathogenic	2 labs	df681a5f9c
20:57478846 GNAS C>T	20	57478846	57478846	C	T	GNAS	c.2361C>T	NM_080425.4	NP_536350.2:p.(Pro787=)	NC_000020.10:g.57478846C>T	(Likely) benign	3 labs	df61803f8a
11:61161359 TMEM216 T>C	11	61161359	61161359	T	C	TMEM216	c.140T>C	NM_001173990.3	NP_001167461.1:p.(Val47Ala)	NC_000011.9:g.61161359T>C	(Likely) benign	2 labs	df879dfbcb
1:52854961 ORC1 G>A	1	52854961	52854961	G	A	ORC1	c.1115C>T	NM_004153.4	NP_004144.2:p.(Ala372Val)	NC_000001.10:g.52854961G>A	(Likely) benign	2 labs	df89868b26
12:52093334 SCN8A C>T	12	52093334	52093334	C	T	SCN8A	c.707-20C>T	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52093334C>T	(Likely) benign	2 labs	df8ceef76b
4:88959654 PKD2 G>A	4	88959654	88959654	G	A	PKD2	c.1094+1G>A	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88959654G>A	(Likely) pathogenic	3 labs	df91d3d07f
4:88959523 PKD2 C>T	4	88959523	88959523	C	T	PKD2	c.964C>T	NM_000297.4	NP_000288.1:p.(Arg322Trp)	NC_000004.11:g.88959523C>T	(Likely) pathogenic	3 labs	df9c59a1e1
18:10750150 PIEZO2 G>C	18	10750150	10750150	G	C	PIEZO2	c.4128C>G	NM_022068.4	NP_071351.2:p.(His1376Gln)	NC_000018.9:g.10750150G>C	(Likely) benign	2 labs	dfa48bf2ab
1:78401709 NEXN G>A	1	78401709	78401709	G	A	NEXN	c.1453G>A	NM_144573.4	NP_653174.3:p.(Glu485Lys)	NC_000001.10:g.78401709G>A	VUS	4 labs	dacdb7fe53
1:196801042 CFHR1 G>T	1	196801042	196801042	G	T	CFHR1	c.906G>T	NM_002113.2	NP_002104.2:p.(Arg302=)	NC_000001.10:g.196801042G>T	(Likely) benign	2 labs	dfb7e667f4
19:6711070 C3 C>G	19	6711070	6711070	C	G	C3	c.1407G>C	NM_000064.2	NP_000055.2:p.(Glu469Asp)	NC_000019.9:g.6711070C>G	(Likely) benign	2 labs	dfcdbd4078
X:154176176 F8 T>C	X	154176176	154176176	T	C	F8	c.1910A>G	NM_000132.3	NP_000123.1:p.(Asn637Ser)	NC_000023.10:g.154176176T>C	(Likely) pathogenic	2 labs	dfd68b9ba8
16:30970203 SETD1A G>T	16	30970203	30970203	G	T	SETD1A	c.150+1G>T	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970203G>T	(Likely) pathogenic	2 labs	dad038b00b
20:60913002 LAMA5 G>A	20	60913002	60913002	G	A	LAMA5	c.1892-8C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60913002G>A	(Likely) benign	2 labs	dff7854523
4:5620310 EVC2 G>A	4	5620310	5620310	G	A	EVC2	c.2601C>T	NM_147127.5	NP_667338.3:p.(Ala867=)	NC_000004.11:g.5620310G>A	(Likely) benign	2 labs	e0065eec1f
21:46908355 COL18A1 T>C	21	46908355	46908355	T	C	COL18A1	c.2460T>C	NM_030582.4	NP_085059.2:p.(Leu820=)	NC_000021.8:g.46908355T>C	(Likely) benign	3 labs	dad48aedbe
4:88929329 PKD2 C>T	4	88929329	88929329	C	T	PKD2	c.444C>T	NM_000297.4	NP_000288.1:p.(Gly148=)	NC_000004.11:g.88929329C>T	(Likely) benign	2 labs	e0093c77e8
1:16382958 CLCNKB T>C	1	16382958	16382958	T	C	CLCNKB	c.1971T>C	NM_000085.4	NP_000076.2:p.(Phe657=)	NC_000001.10:g.16382958T>C	(Likely) benign	2 labs	e01358f3b1
2:166894395 SCN1A C>T	2	166894395	166894395	C	T	SCN1A	c.2837G>A	NM_001165963.3	NP_001159435.1:p.(Arg946His)	NC_000002.11:g.166894395C>T	(Likely) pathogenic	2 labs	e022544f51
6:112463389 LAMA4 G>T	6	112463389	112463389	G	T	LAMA4	c.2578C>A	NM_002290.5	NP_002281.3:p.(Pro860Thr)	NC_000006.11:g.112463389G>T	VUS	3 labs	e007f3ee1b
6:133833915 EYA4 A>G	6	133833915	133833915	A	G	EYA4	c.1338A>G	NM_004100.5	NP_004091.3:p.(Leu446=)	NC_000006.11:g.133833915A>G	(Likely) benign	4 labs	dad9910f48
15:73622060 HCN4 C>G	15	73622060	73622060	C	G	HCN4	c.1444G>C	NM_005477.3	NP_005468.1:p.(Gly482Arg)	NC_000015.9:g.73622060C>G	(Likely) pathogenic	2 labs	e047d635b7
20:57480420 GNAS T>C	20	57480420	57480420	T	C	GNAS	c.*294-18T>C	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57480420T>C	(Likely) benign	3 labs	e030d232df
18:29100822 DSG2 A>G	18	29100822	29100822	A	G	DSG2	c.273A>G	NM_001943.5	NP_001934.2:p.(Gly91=)	NC_000018.9:g.29100822A>G	(Likely) benign	3 labs	dae69aa97f
13:32890746 BRCA2 C>G	13	32890746	32890746	C	G	BRCA2	c.67+82C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890746C>G	(Likely) benign	2 labs	e06050405e
2:179616750 TTN C>T	2	179616750	179616750	C	T	TTN	c.10377G>A	NM_133379.5	NP_596870.2:p.(Gly3459=)	NC_000002.11:g.179616750C>T	(Likely) benign	2 labs	e05e8976d2
12:6132030 VWF G>A	12	6132030	6132030	G	A	VWF	c.3414C>T	NM_000552.4	NP_000543.2:p.(Asn1138=)	NC_000012.11:g.6132030G>A	(Likely) benign	2 labs	e06c6f82ff
16:8905531 PMM2 C>T	16	8905531	8905531	C	T	PMM2	c.484C>T	NM_000303.3	NP_000294.1:p.(Arg162Trp)	NC_000016.9:g.8905531C>T	(Likely) pathogenic	2 labs	e0815b5d8d
11:108122683 ATM T>C	11	108122683	108122683	T	C	ATM	c.1727T>C	NM_000051.3	NP_000042.3:p.(Ile576Thr)	NC_000011.9:g.108122683T>C	VUS	2 labs	e097761323
2:179547937 TTN C>A	2	179547937	179547937	C	A	TTN	c.32887+1G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179547937C>A	VUS	2 labs	e0b2f14eff
14:23884229 MYH7 C>T	14	23884229	23884229	C	T	MYH7	c.5534G>A	NM_000257.4	NP_000248.2:p.(Arg1845Gln)	NC_000014.8:g.23884229C>T	VUS	2 labs	e0bebca536
1:155261649 PKLR C>T	1	155261649	155261649	C	T	PKLR	c.1516G>A	NM_000298.6	NP_000289.1:p.(Val506Ile)	NC_000001.10:g.155261649C>T	(Likely) benign	2 labs	e0e0550ea9
2:73679956 ALMS1 C>T	2	73679956	73679956	C	T	ALMS1	c.6305C>T	NM_015120.4	NP_055935.4:p.(Ser2102Leu)	NC_000002.11:g.73679956C>T	(Likely) benign	2 labs	e0b36e19a8
2:29446202 ALK G>A	2	29446202	29446202	G	A	ALK	c.3359+6C>T	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29446202G>A	(Likely) benign	2 labs	004faf9497
1:236908041 ACTN2 C>T	1	236908041	236908041	C	T	ACTN2	c.1371C>T	NM_001103.4	NP_001094.1:p.(Arg457=)	NC_000001.10:g.236908041C>T	(Likely) benign	5 labs	daf099db4b
3:38639229 SCN5A G>A	3	38639229	38639229	G	A	SCN5A	c.2253C>T	NM_198056.2	NP_932173.1:p.(Val751=)	NC_000003.11:g.38639229G>A	(Likely) benign	2 labs	e113d3fec5
9:34648088 GALT G>A	9	34648088	34648088	G	A	GALT	c.508-24G>A	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34648088G>A	(Likely) benign	3 labs	e11a639242
3:148899824 CP G>C	3	148899824	148899824	G	C	CP	c.2522C>G	NM_000096.4	NP_000087.2:p.(Thr841Arg)	NC_000003.11:g.148899824G>C	(Likely) benign	4 labs	daf60a60d2
16:3294246 MEFV G>A	16	3294246	3294246	G	A	MEFV	c.1759+8C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3294246G>A	(Likely) benign	2 labs	e129b16f44
16:16302586 ABCC6 T>C	16	16302586	16302586	T	C	ABCC6	c.793A>G	NM_001171.6	NP_001162.5:p.(Arg265Gly)	NC_000016.9:g.16302586T>C	(Likely) benign	4 labs	daf9f5a0ba
15:43378256 UBR1 C>T	15	43378256	43378256	C	T	UBR1	c.264G>A	NM_174916.3	NP_777576.1:p.(Glu88=)	NC_000015.9:g.43378256C>T	(Likely) benign	2 labs	e168f271e4
2:227660049 IRS1 C>T	2	227660049	227660049	C	T	IRS1	c.3406G>A	NM_005544.3	NP_005535.1:p.(Glu1136Lys)	NC_000002.11:g.227660049C>T	(Likely) benign	2 labs	e165afa51e
11:46897115 LRP4 G>T	11	46897115	46897115	G	T	LRP4	c.3817C>A	NM_002334.3	NP_002325.2:p.(Arg1273=)	NC_000011.9:g.46897115G>T	(Likely) benign	2 labs	e1808f1f67
5:138856923 STING1 C>T	5	138856923	138856923	C	T	STING1	c.937G>A	NM_198282.4	NP_938023.1:p.(Ala313Thr)	NC_000005.9:g.138856923C>T	(Likely) benign	2 labs	e19e9f3255
2:228102680 COL4A3 C>T	2	228102680	228102680	C	T	COL4A3	c.88-4C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228102680C>T	(Likely) benign	2 labs	e1a812c8b0
16:56921840 SLC12A3 G>A	16	56921840	56921840	G	A	SLC12A3	c.2182G>A	NM_000339.3	NP_000330.3:p.(Ala728Thr)	NC_000016.9:g.56921840G>A	(Likely) benign	2 labs	e2082c1ed1
2:166758424 TTC21B G>GA	2	166758424	166758430	G	GA	TTC21B	c.2569-5dup	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166758430dup	(Likely) benign	2 labs	e2148c6400
12:2702427 CACNA1C G>A	12	2702427	2702427	G	A	CACNA1C	c.2579G>A	NM_199460.3	NP_955630.3:p.(Arg860Gln)	NC_000012.11:g.2702427G>A	(Likely) pathogenic	3 labs	e2265a62f9
18:28648997 DSC2 GTCC>G	18	28648997	28649004	GTCC	G	DSC2	c.2368_2370del	NM_004949.5	NP_004940.1:p.(Gly790del)	NC_000018.9:g.28649002_28649004del	(Likely) benign	3 labs	e22229fc56
16:20360468 UMOD C>T	16	20360468	20360468	C	T	UMOD	c.155G>A	NM_003361.3	NP_003352.2:p.(Cys52Tyr)	NC_000016.9:g.20360468C>T	(Likely) pathogenic	2 labs	e2483e671d
3:14177390 TMEM43 C>T	3	14177390	14177390	C	T	TMEM43	c.864C>T	NM_024334.3	NP_077310.1:p.(His288=)	NC_000003.11:g.14177390C>T	(Likely) benign	2 labs	e248e0355b
2:220420990 OBSL1 C>T	2	220420990	220420990	C	T	OBSL1	c.4361G>A	NM_015311.3	NP_056126.1:p.(Arg1454Gln)	NC_000002.11:g.220420990C>T	(Likely) benign	2 labs	e2585659dc
14:23888671 MYH7 G>A	14	23888671	23888671	G	A	MYH7	c.3853+21C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23888671G>A	(Likely) benign	2 labs	e29ef48476
3:196199327 RNF168 CCT>C	3	196199327	196199329	CCT	C	RNF168	c.1077_1078del	NM_152617.4	NP_689830.2:p.(Val361AspfsTer10)	NC_000003.11:g.196199328_196199329del	(Likely) pathogenic	2 labs	e2d133af16
16:2169353 PKD1 G>A	16	2169353	2169353	G	A	PKD1	c.242C>T	NM_001009944.2	NP_001009944.2:p.(Ala81Val)	NC_000016.9:g.2169353G>A	(Likely) benign	2 labs	e2d22f3205
2:179430137 TTN T>G	2	179430137	179430137	T	G	TTN	c.80722A>C	NM_001267550.2	NP_001254479.2:p.(Arg26908=)	NC_000002.11:g.179430137T>G	(Likely) benign	3 labs	e2b4c3e2e9
22:41572254 EP300 T>G	22	41572254	41572254	T	G	EP300	c.4783T>G	NM_001429.4	NP_001420.2:p.(Phe1595Val)	NC_000022.10:g.41572254T>G	(Likely) pathogenic	2 labs	db31430eb1
14:68256184 ZFYVE26 C>G	14	68256184	68256184	C	G	ZFYVE26	c.2887G>C	NM_015346.3	NP_056161.2:p.(Val963Leu)	NC_000014.8:g.68256184C>G	(Likely) benign	3 labs	e302cfe956
16:2141609 PKD1 G>A	16	2141609	2141609	G	A	PKD1	c.11538-11C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2141609G>A	(Likely) benign	2 labs	e32e2e7c83
10:50667034 ERCC6 A>T	10	50667034	50667034	A	T	ERCC6	c.4309T>A	NM_000124.4	NP_000115.1:p.(Phe1437Ile)	NC_000010.10:g.50667034A>T	VUS	2 labs	db433eef93
2:152382511 NEB G>C	2	152382511	152382511	G	C	NEB	c.22227C>G	NM_001271208.1	NP_001258137.1:p.(Asp7409Glu)	NC_000002.11:g.152382511G>C	(Likely) benign	2 labs	e36740b661
1:201341225 TNNT2 C>T	1	201341225	201341225	C	T	TNNT2	c.52+48G>A	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201341225C>T	(Likely) benign	2 labs	e37607d116
21:47836653 PCNT C>T	21	47836653	47836653	C	T	PCNT	c.6821C>T	NM_006031.6	NP_006022.3:p.(Pro2274Leu)	NC_000021.8:g.47836653C>T	(Likely) benign	2 labs	db4909f756
16:2218116 TRAF7 CCCT>C	16	2218116	2218127	CCCT	C	TRAF7	c.187_189del	NM_032271.3	NP_115647.2:p.(Ser64del)	NC_000016.9:g.2218125_2218127del	VUS	2 labs	db4f432ddc
7:77824247 MAGI2 C>T	7	77824247	77824247	C	T	MAGI2	c.2213G>A	NM_012301.4	NP_036433.2:p.(Arg738Gln)	NC_000007.13:g.77824247C>T	(Likely) benign	2 labs	e39c7020e0
17:39925733 JUP G>A	17	39925733	39925733	G	A	JUP	c.405C>T	NM_002230.4	NP_002221.1:p.(Asp135=)	NC_000017.10:g.39925733G>A	(Likely) benign	3 labs	e3838be4e7
X:76939115 ATRX G>C	X	76939115	76939115	G	C	ATRX	c.1633C>G	NM_000489.5	NP_000480.3:p.(Gln545Glu)	NC_000023.10:g.76939115G>C	(Likely) benign	2 labs	e3ab99e32e
11:119169161 CBL C>T	11	119169161	119169161	C	T	CBL	c.2345C>T	NM_005188.3	NP_005179.2:p.(Pro782Leu)	NC_000011.9:g.119169161C>T	(Likely) benign	3 labs	e3b262691b
2:166911140 SCN1A G>GCA	2	166911140	166911143	G	GCA	SCN1A	c.602+6_602+7dup	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166911142_166911143dup	(Likely) benign	2 labs	e3b94e9caf
16:2147500 PKD1 C>G	16	2147500	2147500	C	G	PKD1	c.10225G>C	NM_001009944.2	NP_001009944.2:p.(Val3409Leu)	NC_000016.9:g.2147500C>G	(Likely) benign	3 labs	e3cb8e6eeb
8:145003685 PLEC C>T	8	145003685	145003685	C	T	PLEC	c.3389G>A	NM_201380.4	NP_958782.1:p.(Arg1130Gln)	NC_000008.10:g.145003685C>T	(Likely) benign	2 labs	e3d33ef084
11:71155974 DHCR7 T>A	11	71155974	71155974	T	A	DHCR7	c.25A>T	NM_001360.2	NP_001351.2:p.(Ile9Phe)	NC_000011.9:g.71155974T>A	(Likely) benign	2 labs	e3f025f239
16:81916912 PLCG2 A>G	16	81916912	81916912	A	G	PLCG2	c.731A>G	NM_002661.5	NP_002652.2:p.(His244Arg)	NC_000016.9:g.81916912A>G	(Likely) benign	3 labs	e40435ba66
9:136290675 ADAMTS13 C>T	9	136290675	136290675	C	T	ADAMTS13	c.357C>T	NM_139025.4	NP_620594.1:p.(Ser119=)	NC_000009.11:g.136290675C>T	(Likely) benign	2 labs	e4310d7072
17:1673276 SERPINF1 C>T	17	1673276	1673276	C	T	SERPINF1	c.215C>T	NM_002615.7	NP_002606.3:p.(Thr72Met)	NC_000017.10:g.1673276C>T	(Likely) benign	2 labs	db624ee584
19:54313566 NLRP12 G>C	19	54313566	54313566	G	C	NLRP12	c.1347C>G	NM_144687.4	NP_653288.1:p.(Ala449=)	NC_000019.9:g.54313566G>C	(Likely) benign	2 labs	e4374b4752
2:48982755 LHCGR G>GGCTGCA	2	48982755	48982763	G	GGCTGCA	LHCGR	c.50_55dup	NM_000233.4	NP_000224.2:p.(Leu17_Gln18dup)	NC_000002.11:g.48982758_48982763dup	(Likely) benign	2 labs	e445e14e56
9:35683240 TPM2 T>TGG	9	35683240	35683248	T	TGG	TPM2	c.773-4_773-3dup	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35683247_35683248dup	(Likely) benign	3 labs	e477acf008
12:76741341 BBS10 C>T	12	76741341	76741341	C	T	BBS10	c.424G>A	NM_024685.4	NP_078961.3:p.(Asp142Asn)	NC_000012.11:g.76741341C>T	(Likely) benign	3 labs	e47d8b9ee2
9:87482211 NTRK2 A>G	9	87482211	87482211	A	G	NTRK2	c.1498A>G	NM_006180.6	NP_006171.2:p.(Ile500Val)	NC_000009.11:g.87482211A>G	(Likely) benign	2 labs	e4b2b52124
1:196642194 CFH A>G	1	196642194	196642194	A	G	CFH	c.145A>G	NM_000186.3	NP_000177.2:p.(Ile49Val)	NC_000001.10:g.196642194A>G	(Likely) benign	2 labs	e4bfa8f03d
X:107842023 COL4A5 G>A	X	107842023	107842023	G	A	COL4A5	c.1871G>A	NM_000495.5	NP_000486.1:p.(Gly624Asp)	NC_000023.10:g.107842023G>A	(Likely) pathogenic	2 labs	e4c4df30ca
7:128494069 FLNC C>T	7	128494069	128494069	C	T	FLNC	c.6526C>T	NM_001458.4	NP_001449.3:p.(Arg2176Cys)	NC_000007.13:g.128494069C>T	VUS	2 labs	e4ec6a4be3
6:149699910 TAB2 A>G	6	149699910	149699910	A	G	TAB2	c.859A>G	NM_015093.5	NP_055908.1:p.(Ile287Val)	NC_000006.11:g.149699910A>G	VUS	2 labs	e4f2eaf2a7
10:26356014 MYO3A C>T	10	26356014	26356014	C	T	MYO3A	c.1053+11C>T	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26356014C>T	(Likely) benign	2 labs	db7399ce0c
13:32912865 BRCA2 A>G	13	32912865	32912865	A	G	BRCA2	c.4373A>G	NM_000059.3	NP_000050.2:p.(His1458Arg)	NC_000013.10:g.32912865A>G	(Likely) benign	2 labs	e4ff280ab5
6:26091336 HFE T>C	6	26091336	26091336	T	C	HFE	c.340+4T>C	NM_000410.4	NP_000401.1:p.?	NC_000006.11:g.26091336T>C	(Likely) benign	2 labs	db75725766
4:88959532 PKD2 C>T	4	88959532	88959532	C	T	PKD2	c.973C>T	NM_000297.4	NP_000288.1:p.(Arg325Ter)	NC_000004.11:g.88959532C>T	(Likely) pathogenic	3 labs	e5199a6349
10:73892817 ASCC1 T>C	10	73892817	73892817	T	C	ASCC1	c.935A>G	NM_001369085.1	NP_001356014.1:p.(Asn312Ser)	NC_000010.10:g.73892817T>C	(Likely) benign	2 labs	e4fed5db39
2:179413991 TTN C>T	2	179413991	179413991	C	T	TTN	c.92362G>A	NM_001267550.2	NP_001254479.2:p.(Gly30788Ser)	NC_000002.11:g.179413991C>T	(Likely) benign	2 labs	db79489a43
1:43392801 SLC2A1 C>G	1	43392801	43392801	C	G	SLC2A1	c.1390G>C	NM_006516.4	NP_006507.2:p.(Ala464Pro)	NC_000001.10:g.43392801C>G	VUS	2 labs	db79aa18d3
15:100252709 MEF2A CCAGCAG>C	15	100252709	100252743	CCAGCAG	C	MEF2A	c.1256_1261del	NM_001352615.2	NP_001339544.1:p.(Gln419_Gln420del)	NC_000015.9:g.100252738_100252743del	(Likely) benign	2 labs	e5240805f4
X:10180596 CLCN4 T>C	X	10180596	10180596	T	C	CLCN4	c.1479T>C	NM_001830.4	NP_001821.2:p.(His493=)	NC_000023.10:g.10180596T>C	(Likely) benign	2 labs	e52ad0ed0a
6:31692386 MPIG6B C>G	6	31692386	31692386	C	G	MPIG6B	c.523C>G	NM_025260.3	NP_079536.2:p.(Arg175Gly)	NC_000006.11:g.31692386C>G	(Likely) benign	2 labs	e544a5a39c
10:43595968 RET A>G	10	43595968	43595968	A	G	RET	c.135A>G	NM_020975.6	NP_066124.1:p.(Ala45=)	NC_000010.10:g.43595968A>G	(Likely) benign	2 labs	db7adcef31
2:182468818 CERKL A>T	2	182468818	182468818	A	T	CERKL	c.239-12T>A	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182468818A>T	(Likely) benign	3 labs	db7e73d6b8
14:23862962 MYH6 G>A	14	23862962	23862962	G	A	MYH6	c.2841C>T	NM_002471.4	NP_002462.2:p.(Asp947=)	NC_000014.8:g.23862962G>A	(Likely) benign	5 labs	db80cd6846
12:56740682 STAT2 C>G	12	56740682	56740682	C	G	STAT2	c.1782G>C	NM_005419.4	NP_005410.1:p.(Met594Ile)	NC_000012.11:g.56740682C>G	(Likely) benign	2 labs	e589ddba3d
1:114441425 AP4B1 T>C	1	114441425	114441425	T	C	AP4B1	c.1115-2A>G	NM_006594.5	NP_006585.2:p.?	NC_000001.10:g.114441425T>C	(Likely) pathogenic	2 labs	e5a4626efe
2:228563911 SLC19A3 C>T	2	228563911	228563911	C	T	SLC19A3	c.520G>A	NM_025243.4	NP_079519.1:p.(Val174Ile)	NC_000002.11:g.228563911C>T	(Likely) benign	2 labs	e5a54e05a1
8:126075757 WASHC5 T>C	8	126075757	126075757	T	C	WASHC5	c.1408+7A>G	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126075757T>C	(Likely) benign	2 labs	e5b9467eaf
2:179527798 TTN T>C	2	179527798	179527798	T	C	TTN	c.36701-16A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527798T>C	(Likely) benign	2 labs	db84508858
6:31915144 CFB G>A	6	31915144	31915144	G	A	CFB	c.504G>A	NM_001710.5	NP_001701.2:p.(Pro168=)	NC_000006.11:g.31915144G>A	(Likely) benign	2 labs	e5dee170fc
6:112452195 LAMA4 C>T	6	112452195	112452195	C	T	LAMA4	c.3943G>A	NM_001105206.3	NP_001098676.2:p.(Val1315Ile)	NC_000006.11:g.112452195C>T	(Likely) benign	4 labs	db9106294f
4:187540040 FAT1 C>T	4	187540040	187540040	C	T	FAT1	c.7700G>A	NM_005245.4	NP_005236.2:p.(Arg2567His)	NC_000004.11:g.187540040C>T	(Likely) benign	2 labs	e5f5c19e6f
3:69169080 LMOD3 T>G	3	69169080	69169080	T	G	LMOD3	c.426A>C	NM_198271.4	NP_938012.2:p.(Glu142Asp)	NC_000003.11:g.69169080T>G	(Likely) benign	2 labs	e5fae44e2a
9:111679940 ELP1 T>C	9	111679940	111679940	T	C	ELP1	c.751A>G	NM_003640.5	NP_003631.2:p.(Ser251Gly)	NC_000009.11:g.111679940T>C	(Likely) benign	2 labs	e62fa6126f
16:2156240 PKD1 G>A	16	2156240	2156240	G	A	PKD1	c.7555C>T	NM_001009944.2	NP_001009944.2:p.(Gln2519Ter)	NC_000016.9:g.2156240G>A	(Likely) pathogenic	2 labs	e633338d12
2:179476635 TTN C>G	2	179476635	179476635	C	G	TTN	c.23581G>C	NM_133432.3	NP_597676.3:p.(Ala7861Pro)	NC_000002.11:g.179476635C>G	VUS	2 labs	e636388494
3:38639412 SCN5A G>A	3	38639412	38639412	G	A	SCN5A	c.2070C>T	NM_001099404.1	NP_001092874.1:p.(Leu690=)	NC_000003.11:g.38639412G>A	(Likely) benign	2 labs	e638dbdf56
7:117149101 CFTR G>T	7	117149101	117149101	G	T	CFTR	c.178G>T	NM_000492.4	NP_000483.3:p.(Glu60Ter)	NC_000007.13:g.117149101G>T	(Likely) pathogenic	3 labs	db96934cab
15:44955576 SPG11 C>T	15	44955576	44955576	C	T	SPG11	c.257+13G>A	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44955576C>T	(Likely) benign	2 labs	e63cab146e
14:23898187 MYH7 T>A	14	23898187	23898187	T	A	MYH7	c.1384A>T	NM_000257.2	NP_000248.2:p.(Ile462Phe)	NC_000014.8:g.23898187T>A	VUS	2 labs	e67acf10e6
16:56938376 SLC12A3 T>G	16	56938376	56938376	T	G	SLC12A3	c.2951+2T>G	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56938376T>G	(Likely) pathogenic	2 labs	e6d52298f0
17:40375589 STAT5B G>C	17	40375589	40375589	G	C	STAT5B	c.376-15C>G	NM_012448.3	NP_036580.2:p.?	NC_000017.10:g.40375589G>C	(Likely) benign	2 labs	e6fb5cc037
10:61836174 ANK3 G>A	10	61836174	61836174	G	A	ANK3	c.4465C>T	NM_020987.5	NP_066267.2:p.(Pro1489Ser)	NC_000010.10:g.61836174G>A	(Likely) benign	2 labs	e719214ba4
9:135164037 SETX T>C	9	135164037	135164037	T	C	SETX	c.6108A>G	NM_015046.7	NP_055861.3:p.(Gly2036=)	NC_000009.11:g.135164037T>C	(Likely) benign	4 labs	dba8f9771c
1:156108867 LMNA T>C	1	156108867	156108867	T	C	LMNA				NC_000001.10:g.156108867T>C	(Likely) benign	2 labs	e779ec5535
1:152285076 FLG CACTG>C	1	152285076	152285084	CACTG	C	FLG	c.2282_2285del	NM_002016.2	NP_002007.1:p.(Ser761CysfsTer36)	NC_000001.10:g.152285081_152285084del	(Likely) pathogenic	5 labs	dbbb363054
13:52523859 ATP7B G>A	13	52523859	52523859	G	A	ATP7B	c.2804C>T	NM_000053.4	NP_000044.2:p.(Thr935Met)	NC_000013.10:g.52523859G>A	(Likely) pathogenic	2 labs	e79b9187a4
11:108213967 ATM C>T	11	108213967	108213967	C	T	ATM	c.8287C>T	NM_000051.3	NP_000042.3:p.(Arg2763Ter)	NC_000011.9:g.108213967C>T	(Likely) pathogenic	3 labs	e7a5fe11b1
2:189855038 COL3A1 CA>C	2	189855038	189855041	CA	C	COL3A1	c.753del	NM_000090.4	NP_000081.2:p.(Gly252ValfsTer11)	NC_000002.11:g.189855041del	(Likely) pathogenic	2 labs	e7943ac245
11:65325325 LTBP3 C>CCAG	11	65325325	65325356	C	CCAG	LTBP3	c.103_105dup	NM_001130144.3	NP_001123616.1:p.(Leu35dup)	NC_000011.9:g.65325354_65325356dup	(Likely) benign	2 labs	e7b12f3b1f
19:11687132 ACP5 C>T	19	11687132	11687132	C	T	ACP5	c.661G>A	NM_001111035.3	NP_001104505.1:p.(Val221Ile)	NC_000019.9:g.11687132C>T	(Likely) benign	2 labs	e7c753a10b
X:27765399 DCAF8L2 A>AGAG	X	27765399	27765446	A	AGAG	DCAF8L2	c.432_434dup	NM_001353448.2	NP_001340377.1:p.(Glu147dup)	NC_000023.10:g.27765444_27765446dup	(Likely) benign	2 labs	e7c7e543c0
2:47703538 MSH2 C>T	2	47703538	47703538	C	T	MSH2	c.2038C>T	NM_000251.2	NP_000242.1:p.(Arg680Ter)	NC_000002.11:g.47703538C>T	(Likely) pathogenic	3 labs	e7ee2ca1a7
16:2149782 PKD1 G>A	16	2149782	2149782	G	A	PKD1	c.9924-11C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2149782G>A	(Likely) benign	2 labs	e8054543cf
8:143958578 CYP11B1 G>C	8	143958578	143958578	G	C	CYP11B1	c.456C>G	NM_000497.3	NP_000488.3:p.(Asn152Lys)	NC_000008.10:g.143958578G>C	(Likely) benign	2 labs	e81ddd8b5f
2:238233467 COL6A3 G>A	2	238233467	238233467	G	A	COL6A3	c.9494-10C>T	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238233467G>A	(Likely) benign	2 labs	e822655610
12:6443299 TNFRSF1A G>A	12	6443299	6443299	G	A	TNFRSF1A	c.151C>T	NM_001065.3	NP_001056.1:p.(His51Tyr)	NC_000012.11:g.6443299G>A	(Likely) pathogenic	2 labs	e8288ab9a6
5:89979518 ADGRV1 C>T	5	89979518	89979518	C	T	ADGRV1	c.5780C>T	NM_032119.4	NP_115495.3:p.(Thr1927Met)	NC_000005.9:g.89979518C>T	(Likely) benign	2 labs	e84579c472
2:71742770 DYSF C>T	2	71742770	71742770	C	T	DYSF	c.774C>T	NM_001130981.2	NP_001124453.1:p.(Ile258=)	NC_000002.11:g.71742770C>T	(Likely) benign	2 labs	e83c5bf3c8
7:128481308 FLNC C>T	7	128481308	128481308	C	T	FLNC	c.1898C>T	NM_001458.5	NP_001449.3:p.(Thr633Met)	NC_000007.13:g.128481308C>T	VUS	2 labs	dbc6ade932
2:73679440 ALMS1 G>A	2	73679440	73679440	G	A	ALMS1	c.5789G>A	NM_015120.4	NP_055935.4:p.(Arg1930Gln)	NC_000002.11:g.73679440G>A	(Likely) benign	2 labs	e8473b2135
6:33638138 ITPR3 C>A	6	33638138	33638138	C	A	ITPR3	c.2226C>A	NM_002224.3	NP_002215.2:p.(Asp742Glu)	NC_000006.11:g.33638138C>A	(Likely) benign	2 labs	e86dd714af
6:35478742 TULP1 GCCTCCTCTTCCTCGTCCTCCTCGT>G	6	35478742	35478779	GCCTCCTCTTCCTCGTCCTCCTCGT	G	TULP1	c.371_394del	NM_003322.6	NP_003313.3:p.(Asp124_Glu131del)	NC_000006.11:g.35478756_35478779del	VUS	3 labs	dbc6af5139
1:201331231 TNNT2 G>A	1	201331231	201331231	G	A	TNNT2	c.580-81C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331231G>A	(Likely) benign	2 labs	e89cf16445
13:32890726 BRCA2 T>G	13	32890726	32890726	T	G	BRCA2	c.67+62T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890726T>G	(Likely) benign	3 labs	e8b94fb6ba
16:15851677 MYH11 C>T	16	15851677	15851677	C	T	MYH11	c.1596+7G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15851677C>T	(Likely) benign	2 labs	e8b3a6733b
3:38671944 SCN5A G>A	3	38671944	38671944	G	A	SCN5A	c.274-24C>T	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38671944G>A	(Likely) benign	2 labs	e8c7db4c1a
19:11313256 DOCK6 G>A	19	11313256	11313256	G	A	DOCK6	c.5361+4C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11313256G>A	(Likely) benign	2 labs	dbcbd34b5b
17:59763114 BRIP1 A>T	17	59763114	59763114	A	T	BRIP1	c.2905+83T>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59763114A>T	(Likely) benign	3 labs	e8e9750f04
13:32911754 BRCA2 C>T	13	32911754	32911754	C	T	BRCA2	c.3262C>T	NM_000059.4	NP_000050.3:p.(Pro1088Ser)	NC_000013.10:g.32911754C>T	(Likely) benign	7 labs	dbcbe7fedb
1:179520569 NPHS2 C>T	1	179520569	179520569	C	T	NPHS2	c.891G>A	NM_014625.3	NP_055440.1:p.(Ala297=)	NC_000001.10:g.179520569C>T	(Likely) benign	2 labs	e8f3b16ff5
5:10250443 CCT5 T>C	5	10250443	10250443	T	C	CCT5	c.-10T>C	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10250443T>C	(Likely) benign	2 labs	dbd056c259
4:84191124 COQ2 C>T	4	84191124	84191124	C	T	COQ2	c.801G>A	NM_015697.9	NP_056512.5:p.(Ala267=)	NC_000004.11:g.84191124C>T	(Likely) benign	2 labs	e910e90c26
2:179427726 TTN C>T	2	179427726	179427726	C	T	TTN	c.83133G>A	NM_001267550.2	NP_001254479.2:p.(Lys27711=)	NC_000002.11:g.179427726C>T	(Likely) benign	4 labs	dbdaddfac7
1:201341289 TNNT2 A>G	1	201341289	201341289	A	G	TNNT2	c.42-6T>C	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201341289A>G	(Likely) benign	2 labs	e96efd234d
2:179591945 TTN A>T	2	179591945	179591945	A	T	TTN	c.20147T>A	NM_001267550.2	NP_001254479.2:p.(Met6716Lys)	NC_000002.11:g.179591945A>T	(Likely) benign	4 labs	e95c148694
2:238244963 COL6A3 A>G	2	238244963	238244963	A	G	COL6A3	c.8780T>C	NM_004369.4	NP_004360.2:p.(Met2927Thr)	NC_000002.11:g.238244963A>G	(Likely) benign	4 labs	dbdddf76f1
16:23646257 PALB2 G>A	16	23646257	23646257	G	A	PALB2	c.1610C>T	NM_024675.3	NP_078951.2:p.(Ser537Leu)	NC_000016.9:g.23646257G>A	(Likely) benign	2 labs	e980d9c5da
2:166901544 SCN1A G>T	2	166901544	166901544	G	T	SCN1A	c.1662+9C>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166901544G>T	(Likely) benign	2 labs	e988c3a1e6
10:21139327 NEBL A>G	10	21139327	21139327	A	G	NEBL	c.1113T>C	NM_006393.2	NP_006384.1:p.(Ser371=)	NC_000010.10:g.21139327A>G	(Likely) benign	2 labs	e9a20efea8
16:1258189 CACNA1H G>A	16	1258189	1258189	G	A	CACNA1H	c.3331G>A	NM_021098.3	NP_066921.2:p.(Gly1111Arg)	NC_000016.9:g.1258189G>A	(Likely) benign	2 labs	e9eb419d54
13:32900547 BRCA2 G>A	13	32900547	32900547	G	A	BRCA2	c.517-89G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900547G>A	(Likely) benign	2 labs	e9e843ad8f
1:201337436 TNNT2 C>T	1	201337436	201337436	C	T	TNNT2	c.68-81G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201337436C>T	(Likely) benign	2 labs	ea0904805d
17:41201073 BRCA1 T>G	17	41201073	41201073	T	G	BRCA1	c.5406+65A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201073T>G	(Likely) benign	2 labs	ea1fd481a7
16:2164844 PKD1 A>G	16	2164844	2164844	A	G	PKD1	c.2180T>C	NM_001009944.2	NP_001009944.2:p.(Leu727Pro)	NC_000016.9:g.2164844A>G	(Likely) pathogenic	2 labs	ea5704868e
22:17690430 ADA2 C>G	22	17690430	17690430	C	G	ADA2	c.138G>C	NM_001282225.2	NP_001269154.1:p.(Leu46=)	NC_000022.10:g.17690430C>G	(Likely) benign	2 labs	dbf0f08be8
2:179403949 TTN C>T	2	179403949	179403949	C	T	TTN	c.98713G>A	NM_001267550.2	NP_001254479.2:p.(Glu32905Lys)	NC_000002.11:g.179403949C>T	VUS	4 labs	dbf68a42b2
1:26138136 SELENON C>A	1	26138136	26138136	C	A	SELENON	c.1093-46C>A	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26138136C>A	(Likely) benign	2 labs	ea73ff7bfd
14:23853758 MYH6 G>A	14	23853758	23853758	G	A	MYH6	c.5458C>T	NM_002471.4	NP_002462.2:p.(Arg1820Trp)	NC_000014.8:g.23853758G>A	VUS	2 labs	dbfac3267b
1:156108491 LMNA C>T	1	156108491	156108491	C	T	LMNA	c.1911C>T	NM_170707.4	NP_733821.1:p.(Phe637=)	NC_000001.10:g.156108491C>T	(Likely) benign	5 labs	dc04760314
16:3304463 MEFV C>T	16	3304463	3304463	C	T	MEFV	c.605G>A	NM_000243.2	NP_000234.1:p.(Arg202Gln)	NC_000016.9:g.3304463C>T	(Likely) benign	2 labs	eab877f754
6:112441515 LAMA4 C>T	6	112441515	112441515	C	T	LAMA4	c.4636G>A	NM_001105206.3	NP_001098676.2:p.(Glu1546Lys)	NC_000006.11:g.112441515C>T	VUS	2 labs	dc047b3c46
9:98211572 PTCH1 T>A	9	98211572	98211572	T	A	PTCH1	c.3583A>T	NM_000264.3	NP_000255.2:p.(Thr1195Ser)	NC_000009.11:g.98211572T>A	(Likely) benign	2 labs	ead1ac2c67
2:175614908 CHRNA1 CAA>C	2	175614908	175614925	CAA	C	CHRNA1	c.779-13_779-12del	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175614924_175614925del	(Likely) benign	2 labs	eaff9d7ed6
12:2719860 CACNA1C A>G	12	2719860	2719860	A	G	CACNA1C	c.3772A>G	NM_199460.4	NP_955630.3:p.(Met1258Val)	NC_000012.11:g.2719860A>G	VUS	2 labs	eaf3fd222a
1:241663902 FH T>TGAGA	1	241663902	241663940	T	TGAGA	FH	c.1237-16_1237-13dup	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241663937_241663940dup	(Likely) benign	2 labs	eb041478c6
14:23895179 MYH7 C>T	14	23895179	23895179	C	T	MYH7	c.2156G>A	NM_000257.4	NP_000248.2:p.(Arg719Gln)	NC_000014.8:g.23895179C>T	(Likely) pathogenic	3 labs	dc055318aa
2:44507927 SLC3A1 C>T	2	44507927	44507927	C	T	SLC3A1	c.503C>T	NM_000341.4	NP_000332.2:p.(Ser168Leu)	NC_000002.11:g.44507927C>T	(Likely) pathogenic	2 labs	eb26972d3b
2:108604657 SLC5A7 C>T	2	108604657	108604657	C	T	SLC5A7	c.46C>T	NM_021815.5	NP_068587.1:p.(Leu16Phe)	NC_000002.11:g.108604657C>T	(Likely) benign	2 labs	eb1b9b7675
7:6048618 PMS2 C>G	7	6048618	6048618	C	G	PMS2	c.23+10G>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6048618C>G	(Likely) benign	6 labs	dc09769b02
13:92346106 GPC5 C>T	13	92346106	92346106	C	T	GPC5	c.991C>T	NM_004466.6	NP_004457.1:p.(His331Tyr)	NC_000013.10:g.92346106C>T	(Likely) benign	2 labs	eb611c7895
11:47372934 MYBPC3 T>C	11	47372934	47372934	T	C	MYBPC3	c.148A>G	NM_000256.3	NP_000247.2:p.(Ser50Gly)	NC_000011.9:g.47372934T>C	(Likely) benign	2 labs	eb67d9a792
2:228566993 SLC19A3 G>A	2	228566993	228566993	G	A	SLC19A3	c.42C>T	NM_025243.4	NP_079519.1:p.(Tyr14=)	NC_000002.11:g.228566993G>A	(Likely) benign	2 labs	eb69acfa0f
11:20676386 SLC6A5 A>G	11	20676386	20676386	A	G	SLC6A5	c.2366A>G	NM_004211.5	NP_004202.4:p.(Lys789Arg)	NC_000011.9:g.20676386A>G	(Likely) benign	2 labs	eb6e999dd6
13:32906957 BRCA2 C>T	13	32906957	32906957	C	T	BRCA2	c.1342C>T	NM_000059.4	NP_000050.3:p.(Arg448Cys)	NC_000013.10:g.32906957C>T	(Likely) benign	2 labs	dc0f5ff3ea
14:101347786 RTL1 G>A	14	101347786	101347786	G	A	RTL1	c.3340C>T	NM_001134888.2	NP_001128360.1:p.(Arg1114Trp)	NC_000014.8:g.101347786G>A	(Likely) benign	2 labs	eb8647adf9
3:126749082 PLXNA1 G>A	3	126749082	126749082	G	A	PLXNA1	c.5062-4G>A	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126749082G>A	(Likely) benign	2 labs	dc124fb60b
4:5803669 EVC T>C	4	5803669	5803669	T	C	EVC	c.2305-8T>C	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5803669T>C	(Likely) benign	2 labs	dc12ad8618
20:34025550 GDF5 CA>C	20	34025550	34025551	CA	C	GDF5	c.158del	NM_000557.5	NP_000548.2:p.(Leu53ArgfsTer34)	NC_000020.10:g.34025551del	(Likely) pathogenic	2 labs	dc12d0e7e0
1:197060077 ASPM T>G	1	197060077	197060077	T	G	ASPM	c.9539A>C	NM_018136.5	NP_060606.3:p.(Gln3180Pro)	NC_000001.10:g.197060077T>G	(Likely) benign	2 labs	ebe8cb8435
16:2160693 PKD1 C>G	16	2160693	2160693	C	G	PKD1	c.4475G>C	NM_001009944.2	NP_001009944.2:p.(Arg1492Pro)	NC_000016.9:g.2160693C>G	(Likely) benign	2 labs	ebf54d6e5a
X:54040961 PHF8 C>G	X	54040961	54040961	C	G	PHF8	c.632G>C	NM_015107.3	NP_055922.1:p.(Arg211Pro)	NC_000023.10:g.54040961C>G	VUS	2 labs	dc1a46de66
16:2162408 PKD1 C>T	16	2162408	2162408	C	T	PKD1	c.3228G>A	NM_001009944.2	NP_001009944.2:p.(Pro1076=)	NC_000016.9:g.2162408C>T	(Likely) benign	2 labs	ec5d044608
12:49425055 KMT2D C>T	12	49425055	49425055	C	T	KMT2D	c.13433G>A	NM_003482.3	NP_003473.3:p.(Arg4478Gln)	NC_000012.11:g.49425055C>T	(Likely) benign	2 labs	ec7cbbfbda
10:112583386 RBM20 A>G	10	112583386	112583386	A	G	RBM20	c.3451+14A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583386A>G	(Likely) benign	2 labs	ec660a55ec
3:33110383 GLB1 G>A	3	33110383	33110383	G	A	GLB1	c.325C>T	NM_000404.4	NP_000395.3:p.(Arg109Trp)	NC_000003.11:g.33110383G>A	(Likely) benign	2 labs	dc2dc1ecbf
6:52878728 CILK1 T>C	6	52878728	52878728	T	C	CILK1	c.884A>G	NM_016513.4	NP_057597.2:p.(Gln295Arg)	NC_000006.11:g.52878728T>C	(Likely) benign	2 labs	ecc23ef319
1:156104733 LMNA T>A	1	156104733	156104733	T	A	LMNA				NC_000001.10:g.156104733T>A	(Likely) pathogenic	2 labs	ecc38c1540
13:101101510 PCCA T>C	13	101101510	101101510	T	C	PCCA	c.1850T>C	NM_000282.4	NP_000273.2:p.(Leu617Pro)	NC_000013.10:g.101101510T>C	(Likely) benign	2 labs	ecc3df9049
9:139390794 NOTCH1 G>A	9	139390794	139390794	G	A	NOTCH1	c.7397C>T	NM_017617.5	NP_060087.3:p.(Thr2466Met)	NC_000009.11:g.139390794G>A	VUS	2 labs	ecc927acad
16:56918125 SLC12A3 C>A	16	56918125	56918125	C	A	SLC12A3	c.1825+9C>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56918125C>A	(Likely) benign	2 labs	ecd85c5653
16:89877106 FANCA C>G	16	89877106	89877106	C	G	FANCA	c.522+9G>C	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89877106C>G	(Likely) benign	2 labs	ecedb98335
10:73500609 CDH23 C>T	10	73500609	73500609	C	T	CDH23	c.4519C>T	NM_022124.6	NP_071407.4:p.(Arg1507Trp)	NC_000010.10:g.73500609C>T	VUS	2 labs	dc30dcab60
4:186427735 PDLIM3 G>A	4	186427735	186427735	G	A	PDLIM3	c.734C>T	NM_014476.6	NP_055291.2:p.(Thr245Ile)	NC_000004.11:g.186427735G>A	(Likely) benign	2 labs	ed264f5eb0
16:2153585 PKD1 G>A	16	2153585	2153585	G	A	PKD1	c.8473C>T	NM_001009944.2	NP_001009944.2:p.(Leu2825Phe)	NC_000016.9:g.2153585G>A	(Likely) benign	2 labs	ed7f81c7dd
15:63354798 TPM1 G>A	15	63354798	63354798	G	A	TPM1	c.726G>A	NM_001018004.2	NP_001018004.1:p.(Ala242=)	NC_000015.9:g.63354798G>A	(Likely) benign	2 labs	dc3f9c07d2
19:17954215 JAK3 G>T	19	17954215	17954215	G	T	JAK3	c.394C>A	NM_000215.3	NP_000206.2:p.(Pro132Thr)	NC_000019.9:g.17954215G>T	(Likely) benign	2 labs	ed8fa07b6f
15:65370353 KBTBD13 T>C	15	65370353	65370353	T	C	KBTBD13	c.1200T>C	NM_001101362.3	NP_001094832.1:p.(Gly400=)	NC_000015.9:g.65370353T>C	(Likely) benign	2 labs	dc49507dc7
22:29121265 CHEK2 C>T	22	29121265	29121265	C	T	CHEK2	c.410G>A	NM_007194.4	NP_009125.1:p.(Arg137Gln)	NC_000022.10:g.29121265C>T	(Likely) benign	5 labs	edad5baea9
1:76363756 MSH4 G>C	1	76363756	76363756	G	C	MSH4	c.2520G>C	NM_002440.4	NP_002431.2:p.(Glu840Asp)	NC_000001.10:g.76363756G>C	(Likely) benign	2 labs	edd5d22e30
3:18419759 SATB1 T>C	3	18419759	18419759	T	C	SATB1	c.1478A>G	NM_001195470.3	NP_001182399.1:p.(Asn493Ser)	NC_000003.11:g.18419759T>C	VUS	2 labs	dc4f8d6289
7:117267559 CFTR T>C	7	117267559	117267559	T	C	CFTR	c.3469-17T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117267559T>C	(Likely) benign	3 labs	dc515330bc
10:131665510 EBF3 G>A	10	131665510	131665510	G	A	EBF3	c.907C>T	NM_001005463.3	NP_001005463.1:p.(Arg303Ter)	NC_000010.10:g.131665510G>A	(Likely) pathogenic	2 labs	dc525096fb
11:32456726 WT1 G>T	11	32456726	32456726	G	T	WT1				NC_000011.9:g.32456726G>T	(Likely) benign	2 labs	ee23f3d3aa
12:110011230 MMAB C>T	12	110011230	110011230	C	T	MMAB	c.56G>A	NM_052845.4	NP_443077.1:p.(Arg19His)	NC_000012.11:g.110011230C>T	(Likely) benign	2 labs	dc5aaad0ed
17:48674084 CACNA1G C>G	17	48674084	48674084	C	G	CACNA1G	c.3065-7C>G	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48674084C>G	(Likely) benign	2 labs	ee33a936e7
19:18979474 GDF1 CAAAG>C	19	18979474	18979480	CAAAG	C	GDF1	c.1047_1050del	NM_001492.6	NP_001483.3:p.(Phe349LeufsTer35)	NC_000019.9:g.18979477_18979480del	(Likely) pathogenic	2 labs	ee3a9ab94f
19:35530617 SCN1B C>T	19	35530617	35530617	C	T	SCN1B	c.*5+7C>T	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530617C>T	(Likely) benign	3 labs	ee467392c6
17:59885929 BRIP1 T>G	17	59885929	59885929	T	G	BRIP1	c.817A>C	NM_032043.2	NP_114432.2:p.(Met273Leu)	NC_000017.10:g.59885929T>G	VUS	2 labs	ee5bd5b861
14:64685212 SYNE2 A>G	14	64685212	64685212	A	G	SYNE2	c.19639A>G	NM_182914.2	NP_878918.2:p.(Ile6547Val)	NC_000014.8:g.64685212A>G	(Likely) benign	2 labs	ee6d76c3ae
1:12024706 PLOD1 T>G	1	12024706	12024706	T	G	PLOD1	c.1475T>G	NM_001316320.2	NP_001303249.1:p.(Val492Gly)	NC_000001.10:g.12024706T>G	VUS	2 labs	ee8588acce
17:48276573 COL1A1 G>C	17	48276573	48276573	G	C	COL1A1	c.471+14C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48276573G>C	(Likely) benign	2 labs	ee9cf68caf
11:61197664 SDHAF2 G>A	11	61197664	61197664	G	A	SDHAF2	c.36+10G>A	NM_017841.2	NP_060311.1:p.?	NC_000011.9:g.61197664G>A	(Likely) benign	2 labs	eec59820f0
3:42733637 KLHL40 G>T	3	42733637	42733637	G	T	KLHL40	c.*152G>T	NM_152393.4	NP_689606.2:p.?	NC_000003.11:g.42733637G>T	(Likely) pathogenic	2 labs	eef75e9fbc
9:21968199 CDKN2A C>G	9	21968199	21968199	C	G	CDKN2A	c.*193G>C	NM_001195132.2	NP_001182061.1:p.?	NC_000009.11:g.21968199C>G	(Likely) benign	4 labs	dc7c559c06
1:229567663 ACTA1 C>CG	1	229567663	229567667	C	CG	ACTA1	c.809-15dup	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229567667dup	(Likely) benign	2 labs	ef00896484
21:47406612 COL6A1 C>A	21	47406612	47406612	C	A	COL6A1	c.588+13C>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47406612C>A	(Likely) benign	3 labs	dc8213cffb
10:60556290 BICC1 T>C	10	60556290	60556290	T	C	BICC1	c.1366+4T>C	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60556290T>C	(Likely) benign	2 labs	ef1a645bb8
6:57059615 RAB23 A>T	6	57059615	57059615	A	T	RAB23	c.434T>A	NM_016277.5	NP_057361.3:p.(Leu145Ter)	NC_000006.11:g.57059615A>T	(Likely) pathogenic	2 labs	ef2efc4f92
19:13397560 CACNA1A C>T	19	13397560	13397560	C	T	CACNA1A	c.3322G>A	NM_023035.3	NP_075461.2:p.(Gly1108Ser)	NC_000019.9:g.13397560C>T	(Likely) benign	4 labs	dc8dfacbe9
12:81101767 MYF6 C>A	12	81101767	81101767	C	A	MYF6	c.269C>A	NM_002469.3	NP_002460.1:p.(Ala90Asp)	NC_000012.11:g.81101767C>A	(Likely) benign	2 labs	ef5ae99271
2:168101820 XIRP2 G>A	2	168101820	168101820	G	A	XIRP2	c.3918G>A	NM_152381.6	NP_689594.4:p.(Gln1306=)	NC_000002.11:g.168101820G>A	(Likely) benign	2 labs	ef73aa8749
5:90050780 ADGRV1 G>A	5	90050780	90050780	G	A	ADGRV1	c.11378-20G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90050780G>A	(Likely) benign	2 labs	ef7115e44d
7:98779503 KPNA7 C>T	7	98779503	98779503	C	T	KPNA7	c.1317+3G>A	NM_001145715.2	NP_001139187.1:p.?	NC_000007.13:g.98779503C>T	(Likely) benign	2 labs	ef94001a19
1:228509430 OBSCN G>A	1	228509430	228509430	G	A	OBSCN	c.17759G>A	NM_001271223.2	NP_001258152.2:p.(Arg5920His)	NC_000001.10:g.228509430G>A	(Likely) benign	2 labs	ef9ac93243
12:133214695 POLE T>G	12	133214695	133214695	T	G	POLE	c.5583A>C	NM_006231.3	NP_006222.2:p.(Ser1861=)	NC_000012.11:g.133214695T>G	(Likely) benign	2 labs	efa86afbc3
7:128477823 FLNC G>T	7	128477823	128477823	G	T	FLNC	c.969+14G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477823G>T	(Likely) benign	2 labs	efc4491664
17:59924612 BRIP1 G>C	17	59924612	59924612	G	C	BRIP1	c.508-31C>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59924612G>C	(Likely) benign	3 labs	efdf6c83db
9:138606442 KCNT1 G>T	9	138606442	138606442	G	T	KCNT1	c.130G>T	NM_020822.2	NP_065873.2:p.(Gly44Cys)	NC_000009.11:g.138606442G>T	(Likely) benign	2 labs	eff37a4cb9
X:153209869 RENBP T>C	X	153209869	153209869	T	C	RENBP	c.29A>G	NM_002910.6	NP_002901.2:p.(Asp10Gly)	NC_000023.10:g.153209869T>C	(Likely) benign	2 labs	eff4c88790
14:75356070 DLST A>AT	14	75356070	75356090	A	AT	DLST	c.274+38dup	NM_001933.5	NP_001924.2:p.?	NC_000014.8:g.75356090dup	(Likely) benign	2 labs	efff4098ce
1:196967354 CFHR5 G>A	1	196967354	196967354	G	A	CFHR5	c.1067G>A	NM_030787.3	NP_110414.1:p.(Arg356His)	NC_000001.10:g.196967354G>A	(Likely) benign	2 labs	f004dcf248
12:21995260 ABCC9 C>T	12	21995260	21995260	C	T	ABCC9	c.3461G>A	NM_020297.2	NP_064693.2:p.(Arg1154Gln)	NC_000012.11:g.21995260C>T	(Likely) pathogenic	2 labs	f0129e35a1
7:65444464 GUSB G>A	7	65444464	65444464	G	A	GUSB	c.646C>T	NM_000181.4	NP_000172.2:p.(Arg216Trp)	NC_000007.13:g.65444464G>A	(Likely) pathogenic	2 labs	f013ec9b8c
4:84205872 COQ2 C>A	4	84205872	84205872	C	A	COQ2	c.196G>T	NM_015697.9	NP_056512.5:p.(Val66Leu)	NC_000004.11:g.84205872C>A	(Likely) benign	3 labs	dca5a46580
9:124074641 GSN A>G	9	124074641	124074641	A	G	GSN	c.691A>G	NM_000177.5	NP_000168.1:p.(Asn231Asp)	NC_000009.11:g.124074641A>G	(Likely) benign	2 labs	f026917851
15:65369395 KBTBD13 C>T	15	65369395	65369395	C	T	KBTBD13	c.242C>T	NM_001101362.2	NP_001094832.1:p.(Ala81Val)	NC_000015.9:g.65369395C>T	(Likely) benign	2 labs	f02aa987b9
1:155874247 RIT1 C>G	1	155874247	155874247	C	G	RIT1	c.284G>C	NM_006912.6	NP_008843.1:p.(Gly95Ala)	NC_000001.10:g.155874247C>G	(Likely) pathogenic	2 labs	dca62a215c
15:44867113 SPG11 TACAG>T	15	44867113	44867122	TACAG	T	SPG11	c.5989_5992del	NM_025137.4	NP_079413.3:p.(Leu1997MetfsTer60)	NC_000015.9:g.44867119_44867122del	(Likely) pathogenic	2 labs	f046bc1ed3
2:176958235 HOXD13 A>G	2	176958235	176958235	A	G	HOXD13	c.617A>G	NM_000523.4	NP_000514.2:p.(Tyr206Cys)	NC_000002.11:g.176958235A>G	(Likely) benign	2 labs	dcaf41b9ea
2:179397646 TTN A>C	2	179397646	179397646	A	C	TTN	c.103696T>G	NM_001267550.2	NP_001254479.2:p.(Ser34566Ala)	NC_000002.11:g.179397646A>C	VUS	4 labs	dcaf6d33c4
1:237875040 RYR2 C>T	1	237875040	237875040	C	T	RYR2	c.10231-5C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237875040C>T	(Likely) benign	3 labs	f0648dcb3c
4:110685687 CFI G>A	4	110685687	110685687	G	A	CFI	c.482+6C>T	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110685687G>A	(Likely) benign	2 labs	f0936c0ccf
19:38964306 RYR1 C>G	19	38964306	38964306	C	G	RYR1	c.4055C>G	NM_000540.2	NP_000531.2:p.(Ala1352Gly)	NC_000019.9:g.38964306C>G	(Likely) benign	2 labs	f097d824f4
16:1268044 CACNA1H C>T	16	1268044	1268044	C	T	CACNA1H	c.5445+4C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1268044C>T	(Likely) benign	2 labs	f0b60dfbe4
6:7581032 DSP C>T	6	7581032	7581032	C	T	DSP	c.4609C>T	NM_004415.4	NP_004406.2:p.(Arg1537Cys)	NC_000006.11:g.7581032C>T	(Likely) benign	5 labs	dcc4caaa95
X:154158285 F8 G>C	X	154158285	154158285	G	C	F8	c.3780C>G	NM_000132.3	NP_000123.1:p.(Asp1260Glu)	NC_000023.10:g.154158285G>C	(Likely) benign	2 labs	f0c3842c1b
16:23637663 PALB2 C>T	16	23637663	23637663	C	T	PALB2	c.2642G>A	NM_024675.3	NP_078951.2:p.(Gly881Asp)	NC_000016.9:g.23637663C>T	(Likely) benign	2 labs	f0cdbb0299
19:36332686 NPHS1 C>A	19	36332686	36332686	C	A	NPHS1	c.2746G>T	NM_004646.3	NP_004637.1:p.(Ala916Ser)	NC_000019.9:g.36332686C>A	(Likely) benign	2 labs	f0deeee12c
1:26142081 SELENON G>A	1	26142081	26142081	G	A	SELENON	c.1645G>A	NM_020451.3	NP_065184.2:p.(Val549Met)	NC_000001.10:g.26142081G>A	(Likely) benign	2 labs	f0ee0454d6
10:112541420 RBM20 C>T	10	112541420	112541420	C	T	RBM20	c.1053C>T	NM_001134363.1	NP_001127835.1:p.(Asp351=)	NC_000010.10:g.112541420C>T	(Likely) benign	2 labs	f0f977dd8c
19:11332570 DOCK6 T>A	19	11332570	11332570	T	A	DOCK6	c.3507A>T	NM_020812.4	NP_065863.2:p.(Leu1169=)	NC_000019.9:g.11332570T>A	(Likely) benign	2 labs	dcd6686d66
14:75485594 MLH3 C>T	14	75485594	75485594	C	T	MLH3	c.4180G>A	NM_001040108.1	NP_001035197.1:p.(Ala1394Thr)	NC_000014.8:g.75485594C>T	VUS	2 labs	f11c8e0aa7
2:110904328 NPHP1 AC>A	2	110904328	110904329	AC	A	NPHP1	c.1352+1del	NM_001128178.3	NP_001121650.1:p.?	NC_000002.11:g.110904329del	(Likely) pathogenic	2 labs	f130a47455
3:11067498 SLC6A1 G>A	3	11067498	11067498	G	A	SLC6A1	c.889G>A	NM_003042.4	NP_003033.3:p.(Gly297Arg)	NC_000003.11:g.11067498G>A	(Likely) pathogenic	2 labs	f133c0a521
19:13470563 CACNA1A G>A	19	13470563	13470563	G	A	CACNA1A	c.835C>T	NM_023035.3	NP_075461.2:p.(Arg279Cys)	NC_000019.9:g.13470563G>A	(Likely) pathogenic	2 labs	dcd8bbe2aa
1:196712596 CFH A>T	1	196712596	196712596	A	T	CFH	c.3148A>T	NM_000186.3	NP_000177.2:p.(Asn1050Tyr)	NC_000001.10:g.196712596A>T	(Likely) benign	2 labs	f13c9c7e7e
1:196646655 CFH T>C	1	196646655	196646655	T	C	CFH	c.477T>C	NM_000186.3	NP_000177.2:p.(Ser159=)	NC_000001.10:g.196646655T>C	(Likely) benign	2 labs	f146024a37
9:710972 KANK1 C>T	9	710972	710972	C	T	KANK1	c.206C>T	NM_015158.4	NP_055973.2:p.(Pro69Leu)	NC_000009.11:g.710972C>T	(Likely) benign	2 labs	f1470389c9
2:25536798 DNMT3A C>T	2	25536798	25536798	C	T	DNMT3A	c.56G>A	NM_175629.2	NP_783328.1:p.(Arg19Gln)	NC_000002.11:g.25536798C>T	VUS	2 labs	dcd9c03fee
2:179399061 TTN T>G	2	179399061	179399061	T	G	TTN	c.102281A>C	NM_001267550.1	NP_001254479.1:p.(Tyr34094Ser)	NC_000002.11:g.179399061T>G	VUS	3 labs	f1919135c4
17:36061109 HNF1B G>A	17	36061109	36061109	G	A	HNF1B	c.1413C>T	NM_000458.4	NP_000449.1:p.(Pro471=)	NC_000017.10:g.36061109G>A	(Likely) benign	2 labs	f1b6d0ff0b
17:29684390 NF1 A>G	17	29684390	29684390	A	G	NF1	c.7907+3A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684390A>G	VUS	2 labs	dce62e8478
12:57958009 KIF5A G>A	12	57958009	57958009	G	A	KIF5A	c.396+14G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57958009G>A	(Likely) benign	2 labs	f1c49c247f
11:18303533 HPS5 G>A	11	18303533	18303533	G	A	HPS5	c.3293C>T	NM_181507.2	NP_852608.1:p.(Thr1098Ile)	NC_000011.9:g.18303533G>A	(Likely) benign	2 labs	f1dd4d884c
2:227877028 COL4A4 A>G	2	227877028	227877028	A	G	COL4A4	c.4217-15T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227877028A>G	(Likely) benign	2 labs	f2129b4404
2:166170504 SCN2A G>A	2	166170504	166170504	G	A	SCN2A	c.1269G>A	NM_021007.3	NP_066287.2:p.(Val423=)	NC_000002.11:g.166170504G>A	(Likely) benign	2 labs	f228d6f3f2
19:13318596 CACNA1A C>T	19	13318596	13318596	C	T	CACNA1A	c.7070G>A	NM_023035.3	NP_075461.2:p.(Gly2357Glu)	NC_000019.9:g.13318596C>T	(Likely) benign	2 labs	f2373fe9a4
14:101347803 RTL1 C>T	14	101347803	101347803	C	T	RTL1	c.3323G>A	NM_001134888.2	NP_001128360.1:p.(Arg1108Gln)	NC_000014.8:g.101347803C>T	(Likely) benign	2 labs	f241ca7b82
6:100057187 PRDM13 C>T	6	100057187	100057187	C	T	PRDM13	c.397+4C>T	NM_021620.4	NP_067633.2:p.?	NC_000006.11:g.100057187C>T	(Likely) benign	2 labs	dcfb051607
1:1471103 TMEM240 G>A	1	1471103	1471103	G	A	TMEM240	c.239C>T	NM_001114748.2	NP_001108220.1:p.(Thr80Met)	NC_000001.10:g.1471103G>A	VUS	3 labs	dcfcd4d127
9:129455587 LMX1B G>C	9	129455587	129455587	G	C	LMX1B	c.726G>C	NM_001174146.2	NP_001167617.1:p.(Ser242=)	NC_000009.11:g.129455587G>C	(Likely) benign	3 labs	f254766b13
1:78383905 NEXN G>C	1	78383905	78383905	G	C	NEXN	c.394G>C	NM_144573.4	NP_653174.3:p.(Asp132His)	NC_000001.10:g.78383905G>C	VUS	2 labs	dcffd0f784
11:108098459 ATM TAA>T	11	108098459	108098461	TAA	T	ATM	c.72+37_72+38del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098460_108098461del	(Likely) benign	2 labs	f261e6aaaa
12:112926909 PTPN11 A>C	12	112926909	112926909	A	C	PTPN11	c.1529A>C	NM_002834.3	NP_002825.3:p.(Gln510Pro)	NC_000012.11:g.112926909A>C	(Likely) pathogenic	2 labs	f26ca1b81e
2:179588996 TTN C>T	2	179588996	179588996	C	T	TTN	c.21106G>A	NM_001267550.2	NP_001254479.2:p.(Asp7036Asn)	NC_000002.11:g.179588996C>T	(Likely) benign	5 labs	dd0526d29b
17:36091680 HNF1B G>C	17	36091680	36091680	G	C	HNF1B	c.951C>G	NM_000458.4	NP_000449.1:p.(Ala317=)	NC_000017.10:g.36091680G>C	(Likely) benign	2 labs	f28d4e2667
11:108224493 ATM G>A	11	108224493	108224493	G	A	ATM	c.8672G>A	NM_001351834.2	NP_001338763.1:p.(Gly2891Asp)	NC_000011.9:g.108224493G>A	VUS	2 labs	dd12f5129e
8:11606609 GATA4 C>T	8	11606609	11606609	C	T	GATA4	c.783+15C>T	NM_002052.5	NP_002043.2:p.?	NC_000008.10:g.11606609C>T	(Likely) benign	2 labs	f2a25aaa90
19:11226829 LDLR G>A	19	11226829	11226829	G	A	LDLR	c.1646G>A	NM_000527.5	NP_000518.1:p.(Gly549Asp)	NC_000019.9:g.11226829G>A	(Likely) pathogenic	2 labs	dd15b252fa
16:2158627 PKD1 A>T	16	2158627	2158627	A	T	PKD1	c.6541T>A	NM_001009944.2	NP_001009944.2:p.(Tyr2181Asn)	NC_000016.9:g.2158627A>T	VUS	2 labs	f2d1581f18
2:109382212 RANBP2 C>T	2	109382212	109382212	C	T	RANBP2	c.5217C>T	NM_006267.5	NP_006258.3:p.(Ala1739=)	NC_000002.11:g.109382212C>T	(Likely) benign	2 labs	f2d79b68f6
2:179396928 TTN C>T	2	179396928	179396928	C	T	TTN	c.104414G>A	NM_001267550.2	NP_001254479.2:p.(Arg34805Gln)	NC_000002.11:g.179396928C>T	VUS	2 labs	dd1f5a3fe9
11:108115522 ATM A>G	11	108115522	108115522	A	G	ATM	c.670A>G	NM_000051.4	NP_000042.3:p.(Lys224Glu)	NC_000011.9:g.108115522A>G	VUS	5 labs	dd213d4f20
12:21995261 ABCC9 G>A	12	21995261	21995261	G	A	ABCC9	c.3460C>T	NM_020297.2	NP_064693.2:p.(Arg1154Trp)	NC_000012.11:g.21995261G>A	(Likely) pathogenic	2 labs	f38e14dc39
2:109384785 RANBP2 T>C	2	109384785	109384785	T	C	RANBP2	c.7790T>C	NM_006267.4	NP_006258.3:p.(Phe2597Ser)	NC_000002.11:g.109384785T>C	(Likely) benign	2 labs	f3a2640827
2:203241897 BMPR2 G>A	2	203241897	203241897	G	A	BMPR2	c.-301G>A	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203241897G>A	(Likely) benign	2 labs	f392abb970
17:59885813 BRIP1 A>T	17	59885813	59885813	A	T	BRIP1	c.918+15T>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59885813A>T	(Likely) benign	5 labs	f3c392d698
14:23859414 MYH6 C>T	14	23859414	23859414	C	T	MYH6	c.3584G>A	NM_002471.3	NP_002462.2:p.(Arg1195His)	NC_000014.8:g.23859414C>T	VUS	2 labs	f3f24e76ad
17:56770094 RAD51C G>A	17	56770094	56770094	G	A	RAD51C	c.90G>A	NM_058216.1	NP_478123.1:p.(Ala30=)	NC_000017.10:g.56770094G>A	(Likely) benign	4 labs	f40a3144ad
X:54497828 FGD1 G>A	X	54497828	54497828	G	A	FGD1	c.400C>T	NM_004463.3	NP_004454.2:p.(Arg134Cys)	NC_000023.10:g.54497828G>A	(Likely) benign	2 labs	f425231391
9:98224149 PTCH1 C>T	9	98224149	98224149	C	T	PTCH1	c.2692G>A	NM_000264.3	NP_000255.2:p.(Asp898Asn)	NC_000009.11:g.98224149C>T	(Likely) benign	2 labs	f432066b91
5:223595 SDHA A>G	5	223595	223595	A	G	SDHA	c.64-2A>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.223595A>G	(Likely) pathogenic	2 labs	dd34d6b94a
4:79432602 FRAS1 C>G	4	79432602	79432602	C	G	FRAS1	c.9955C>G	NM_025074.7	NP_079350.5:p.(Gln3319Glu)	NC_000004.11:g.79432602C>G	(Likely) benign	2 labs	f43d33d177
17:62022710 SCN4A T>C	17	62022710	62022710	T	C	SCN4A	c.3720+10A>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62022710T>C	(Likely) benign	3 labs	f4498b3ae6
5:228362 SDHA T>C	5	228362	228362	T	C	SDHA	c.684T>C	NM_004168.4	NP_004159.2:p.(Asn228=)	NC_000005.9:g.228362T>C	(Likely) benign	2 labs	f46cb17cf5
2:167134843 SCN9A T>A	2	167134843	167134843	T	A	SCN9A	c.2311-20A>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167134843T>A	(Likely) benign	2 labs	f46ee1a243
10:88466274 LDB3 T>C	10	88466274	88466274	T	C	LDB3	c.1101-3388T>C	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88466274T>C	(Likely) benign	2 labs	dd3c78bdee
19:36322018 NPHS1 G>T	19	36322018	36322018	G	T	NPHS1	c.3418C>A	NM_004646.3	NP_004637.1:p.(Arg1140Ser)	NC_000019.9:g.36322018G>T	(Likely) benign	2 labs	f49abafa56
10:95892129 PLCE1 T>A	10	95892129	95892129	T	A	PLCE1	c.1405T>A	NM_016341.3	NP_057425.3:p.(Ser469Thr)	NC_000010.10:g.95892129T>A	(Likely) benign	2 labs	f4ae7cec23
12:110019328 MVK C>T	12	110019328	110019328	C	T	MVK	c.500C>T	NM_000431.2	NP_000422.1:p.(Pro167Leu)	NC_000012.11:g.110019328C>T	(Likely) pathogenic	2 labs	f4cfb0e0e4
1:196697507 CFH AAATTT>A	1	196697507	196697516	AAATTT	A	CFH	c.2273_2277del	NM_000186.4	NP_000177.2:p.(Leu758TyrfsTer3)	NC_000001.10:g.196697512_196697516del	(Likely) pathogenic	2 labs	f4d604927c
1:33282794 YARS1 G>A	1	33282794	33282794	G	A	YARS1	c.52C>T	NM_003680.4	NP_003671.1:p.(Leu18=)	NC_000001.10:g.33282794G>A	(Likely) benign	2 labs	f4be1b508a
12:49445913 KMT2D G>A	12	49445913	49445913	G	A	KMT2D	c.1553C>T	NM_003482.3	NP_003473.3:p.(Ser518Leu)	NC_000012.11:g.49445913G>A	(Likely) benign	2 labs	f4f7976bd9
X:31496350 DMD C>T	X	31496350	31496350	C	T	DMD	c.8810G>A	NM_004006.3	NP_003997.2:p.(Arg2937Gln)	NC_000023.10:g.31496350C>T	(Likely) benign	3 labs	dd4299d2f6
14:91739805 CCDC88C C>T	14	91739805	91739805	C	T	CCDC88C	c.5251G>A	NM_001080414.4	NP_001073883.2:p.(Val1751Ile)	NC_000014.8:g.91739805C>T	VUS	2 labs	dd47a378a6
15:73621986 HCN4 G>A	15	73621986	73621986	G	A	HCN4	c.1518C>T	NM_005477.3	NP_005468.1:p.(Tyr506=)	NC_000015.9:g.73621986G>A	(Likely) benign	5 labs	dd4859a623
X:153172059 AVPR2 C>T	X	153172059	153172059	C	T	AVPR2	c.993C>T	NM_000054.6	NP_000045.1:p.(Ser331=)	NC_000023.10:g.153172059C>T	(Likely) benign	2 labs	f52e2082b3
8:100847565 VPS13B C>T	8	100847565	100847565	C	T	VPS13B	c.9817+13C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100847565C>T	(Likely) benign	2 labs	f523476de8
20:57485812 GNAS C>T	20	57485812	57485812	C	T	GNAS	c.3042C>T	NM_080425.4	NP_536350.2:p.(Asn1014=)	NC_000020.10:g.57485812C>T	(Likely) benign	3 labs	f53160bfef
11:5248159 HBB C>T	11	5248159	5248159	C	T	HBB	c.92+1G>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5248159C>T	(Likely) pathogenic	3 labs	f5458e3b95
3:100438859 TFG C>G	3	100438859	100438859	C	G	TFG	c.225C>G	NM_001195479.2	NP_001182408.1:p.(Ser75=)	NC_000003.11:g.100438859C>G	(Likely) benign	2 labs	f547b4f256
5:149755744 TCOF1 G>C	5	149755744	149755744	G	C	TCOF1	c.1993G>C	NM_001135243.1	NP_001128715.1:p.(Ala665Pro)	NC_000005.9:g.149755744G>C	(Likely) benign	2 labs	f57e81b9fb
15:48784785 FBN1 TA>T	15	48784785	48784790	TA	T	FBN1	c.2729-3del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48784790del	(Likely) benign	2 labs	f57dcd8ad8
4:4862100 MSX1 G>C	4	4862100	4862100	G	C	MSX1	c.469+5G>C	NM_002448.3	NP_002439.2:p.?	NC_000004.11:g.4862100G>C	(Likely) pathogenic	2 labs	f5940b47ca
1:245022046 HNRNPU C>T	1	245022046	245022046	C	T	HNRNPU	c.1215G>A	NM_031844.3	NP_114032.2:p.(Val405=)	NC_000001.10:g.245022046C>T	(Likely) benign	2 labs	f5a88d0d9c
13:32900473 BRCA2 T>C	13	32900473	32900473	T	C	BRCA2	c.516+54T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900473T>C	(Likely) benign	2 labs	f5b5fff979
7:100228655 TFR2 G>T	7	100228655	100228655	G	T	TFR2	c.1127C>A	NM_003227.4	NP_003218.2:p.(Ala376Asp)	NC_000007.13:g.100228655G>T	VUS	2 labs	dd53ef3178
10:43609097 RET G>C	10	43609097	43609097	G	C	RET	c.1853G>C	NM_020975.4	NP_066124.1:p.(Cys618Ser)	NC_000010.10:g.43609097G>C	(Likely) pathogenic	2 labs	f5c8635b43
17:15162404 PMP22 G>T	17	15162404	15162404	G	T	PMP22	c.178+7C>A	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15162404G>T	(Likely) benign	2 labs	f5c7d425be
2:73800121 ALMS1 C>G	2	73800121	73800121	C	G	ALMS1	c.11120C>G	NM_015120.4	NP_055935.4:p.(Ser3707Cys)	NC_000002.11:g.73800121C>G	(Likely) benign	2 labs	f5e62c314a
2:179583409 TTN G>A	2	179583409	179583409	G	A	TTN	c.24505+13C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179583409G>A	(Likely) benign	2 labs	f5cf9f71cc
9:136219295 SURF1 A>G	9	136219295	136219295	A	G	SURF1	c.751+6T>C	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136219295A>G	(Likely) benign	2 labs	f61beb3501
19:55667684 TNNI3 A>G	19	55667684	55667684	A	G	TNNI3	c.167T>C	NM_000363.5	NP_000354.4:p.(Ile56Thr)	NC_000019.9:g.55667684A>G	VUS	2 labs	dd65ec4cfa
1:156107538 LMNA A>C	1	156107538	156107538	A	C	LMNA	c.1702A>C	NM_001282625.1	NP_001269554.1:p.(Ser568Arg)	NC_000001.10:g.156107538A>C	VUS	2 labs	f62e12ffa9
X:32328332 DMD T>A	X	32328332	32328332	T	A	DMD	c.5615A>T	NM_004010.3	NP_004001.1:p.(Tyr1872Phe)	NC_000023.10:g.32328332T>A	(Likely) benign	3 labs	f626495e54
6:51695796 PKHD1 T>TA	6	51695796	51695805	T	TA	PKHD1	c.8174-10dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51695805dup	(Likely) benign	2 labs	f675a338ad
20:62070966 KCNQ2 G>A	20	62070966	62070966	G	A	KCNQ2	c.912C>T	NM_172107.4	NP_742105.1:p.(Phe304=)	NC_000020.10:g.62070966G>A	(Likely) benign	2 labs	f67cfe6496
13:32944741 BRCA2 C>T	13	32944741	32944741	C	T	BRCA2	c.8487+47C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944741C>T	(Likely) benign	2 labs	f686830ccf
16:1270154 CACNA1H C>T	16	1270154	1270154	C	T	CACNA1H	c.6222C>T	NM_021098.3	NP_066921.2:p.(Phe2074=)	NC_000016.9:g.1270154C>T	(Likely) benign	2 labs	f68b953889
3:49162583 LAMB2 C>T	3	49162583	49162583	C	T	LAMB2	c.2740G>A	NM_002292.4	NP_002283.3:p.(Gly914Arg)	NC_000003.11:g.49162583C>T	(Likely) benign	2 labs	f6b4214e75
5:37154074 CPLANE1 C>T	5	37154074	37154074	C	T	CPLANE1	c.7979G>A	NM_023073.3	NP_075561.3:p.(Arg2660Gln)	NC_000005.9:g.37154074C>T	(Likely) benign	2 labs	f6b6b7c1f3
15:34553225 SLC12A6 GA>G	15	34553225	34553235	GA	G	SLC12A6	c.290-5del	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34553235del	(Likely) benign	2 labs	f6c7b005d4
4:114275552 ANK2 G>A	4	114275552	114275552	G	A	ANK2	c.5778G>A	NM_001148.6	NP_001139.3:p.(Pro1926=)	NC_000004.11:g.114275552G>A	(Likely) benign	2 labs	f6d1773ba4
2:167142893 SCN9A C>T	2	167142893	167142893	C	T	SCN9A	c.1555G>A	NM_002977.3	NP_002968.1:p.(Glu519Lys)	NC_000002.11:g.167142893C>T	(Likely) benign	3 labs	f6edb446c7
11:108163500 ATM C>T	11	108163500	108163500	C	T	ATM	c.4591C>T	NM_000051.4	NP_000042.3:p.(Gln1531Ter)	NC_000011.9:g.108163500C>T	(Likely) pathogenic	3 labs	dd7cc6a95b
2:113999713 PAX8 G>A	2	113999713	113999713	G	A	PAX8	c.479-6C>T	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113999713G>A	(Likely) benign	2 labs	f726c5953f
4:88973139 PKD2 T>C	4	88973139	88973139	T	C	PKD2	c.1549-4T>C	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88973139T>C	(Likely) benign	2 labs	f7675eaed1
2:152439136 NEB A>G	2	152439136	152439136	A	G	NEB	c.16021T>C	NM_001271208.1	NP_001258137.1:p.(Leu5341=)	NC_000002.11:g.152439136A>G	(Likely) benign	2 labs	f77ce1eb47
2:217332750 SMARCAL1 C>T	2	217332750	217332750	C	T	SMARCAL1	c.2225C>T	NM_014140.3	NP_054859.2:p.(Thr742Met)	NC_000002.11:g.217332750C>T	(Likely) benign	2 labs	f78b6d9914
1:17355075 SDHB A>T	1	17355075	17355075	A	T	SDHB	c.423+20T>A	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17355075A>T	(Likely) benign	3 labs	f77df09ba5
19:55667634 TNNI3 C>G	19	55667634	55667634	C	G	TNNI3	c.217G>C	NM_000363.5	NP_000354.4:p.(Gly73Arg)	NC_000019.9:g.55667634C>G	VUS	2 labs	f77e790ae9
X:49840444 CLCN5 A>T	X	49840444	49840444	A	T	CLCN5	c.206-6A>T	NM_000084.5	NP_000075.1:p.?	NC_000023.10:g.49840444A>T	(Likely) benign	2 labs	f7b651658e
17:59760996 BRIP1 A>G	17	59760996	59760996	A	G	BRIP1	c.3411T>C	NM_032043.2	NP_114432.2:p.(Tyr1137=)	NC_000017.10:g.59760996A>G	(Likely) benign	3 labs	f7c2f4f535
6:51890570 PKHD1 G>A	6	51890570	51890570	G	A	PKHD1	c.4038C>T	NM_138694.4	NP_619639.3:p.(Asn1346=)	NC_000006.11:g.51890570G>A	(Likely) benign	2 labs	f7da39a5e3
16:10274047 GRIN2A C>T	16	10274047	10274047	C	T	GRIN2A	c.222G>A	NM_000833.5	NP_000824.1:p.(Met74Ile)	NC_000016.9:g.10274047C>T	(Likely) benign	2 labs	f7f626ac82
2:179458591 TTN C>A	2	179458591	179458591	C	A	TTN	c.58436G>T	NM_001267550.1	NP_001254479.1:p.(Arg19479Leu)	NC_000002.11:g.179458591C>A	VUS	2 labs	f7f75507e6
16:23649419 PALB2 TCC>T	16	23649419	23649422	TCC	T	PALB2	c.78_79del	NM_024675.4	NP_078951.2:p.(Glu27IlefsTer15)	NC_000016.9:g.23649421_23649422del	(Likely) pathogenic	2 labs	dd9505dfdc
21:44838258 SIK1 G>C	21	44838258	44838258	G	C	SIK1	c.1626C>G	NM_173354.5	NP_775490.2:p.(Phe542Leu)	NC_000021.8:g.44838258G>C	(Likely) benign	2 labs	f815554c79
7:150647278 KCNH2 G>A	7	150647278	150647278	G	A	KCNH2	c.2376C>T	NM_000238.4	NP_000229.1:p.(Gly792=)	NC_000007.13:g.150647278G>A	(Likely) benign	3 labs	f811291828
17:42328609 SLC4A1 G>T	17	42328609	42328609	G	T	SLC4A1	c.2573C>A	NM_000342.4	NP_000333.1:p.(Ala858Asp)	NC_000017.10:g.42328609G>T	(Likely) pathogenic	2 labs	f855219e99
17:73836585 UNC13D C>T	17	73836585	73836585	C	T	UNC13D	c.753+3G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836585C>T	(Likely) benign	2 labs	f869e9caa7
4:55147769 PDGFRA C>T	4	55147769	55147769	C	T	PDGFRA	c.2323+1120C>T	NM_006206.4	NP_006197.1:p.?	NC_000004.11:g.55147769C>T	(Likely) benign	2 labs	f88551b783
13:32913457 BRCA2 C>A	13	32913457	32913457	C	A	BRCA2	c.4965C>A	NM_000059.4	NP_000050.3:p.(Tyr1655Ter)	NC_000013.10:g.32913457C>A	(Likely) pathogenic	3 labs	dda33af1f3
14:23862177 MYH6 C>G	14	23862177	23862177	C	G	MYH6	c.3195G>C	NM_002471.3	NP_002462.2:p.(Gln1065His)	NC_000014.8:g.23862177C>G	(Likely) benign	2 labs	f8b2230dda
11:2797196 KCNQ1 C>T	11	2797196	2797196	C	T	KCNQ1	c.1597C>T	NM_000218.3	NP_000209.2:p.(Arg533Trp)	NC_000011.9:g.2797196C>T	(Likely) pathogenic	2 labs	f8c9bc1236
14:64656855 SYNE2 T>C	14	64656855	64656855	T	C	SYNE2	c.17938T>C	NM_182914.3	NP_878918.2:p.(Leu5980=)	NC_000014.8:g.64656855T>C	(Likely) benign	2 labs	ddab08b845
4:88929418 PKD2 T>TC	4	88929418	88929423	T	TC	PKD2	c.538dup	NM_000297.4	NP_000288.1:p.(Leu180ProfsTer33)	NC_000004.11:g.88929423dup	(Likely) pathogenic	2 labs	f8f7329f5a
13:111098226 COL4A2 C>T	13	111098226	111098226	C	T	COL4A2	c.1008C>T	NM_001846.4	NP_001837.2:p.(Pro336=)	NC_000013.10:g.111098226C>T	(Likely) benign	3 labs	ddae1e7753
6:24502830 ALDH5A1 AAAGTGT>A	6	24502830	24502840	AAAGTGT	A	ALDH5A1	c.438+1_438+6del	NM_001080.3	NP_001071.1:p.?	NC_000006.11:g.24502835_24502840del	(Likely) pathogenic	2 labs	f8f76037b8
1:229623359 NUP133 G>A	1	229623359	229623359	G	A	NUP133	c.1196C>T	NM_018230.3	NP_060700.2:p.(Ser399Phe)	NC_000001.10:g.229623359G>A	(Likely) benign	2 labs	f924940751
5:121405845 LOX A>G	5	121405845	121405845	A	G	LOX	c.1150T>C	NM_002317.7	NP_002308.2:p.(Tyr384His)	NC_000005.9:g.121405845A>G	VUS	2 labs	f92a8e5f40
16:2142956 PKD1 G>A	16	2142956	2142956	G	A	PKD1	c.11155C>T	NM_001009944.3	NP_001009944.3:p.(Arg3719Trp)	NC_000016.9:g.2142956G>A	VUS	2 labs	f96f24a5f6
19:10909219 DNM2 C>T	19	10909219	10909219	C	T	DNM2	c.1393C>T	NM_001005360.2	NP_001005360.1:p.(Arg465Trp)	NC_000019.9:g.10909219C>T	(Likely) pathogenic	2 labs	f979dfbc03
19:7174637 INSR G>A	19	7174637	7174637	G	A	INSR	c.1080C>T	NM_000208.4	NP_000199.2:p.(Cys360=)	NC_000019.9:g.7174637G>A	(Likely) benign	2 labs	f98a70a4b1
11:36595176 RAG1 C>T	11	36595176	36595176	C	T	RAG1	c.322C>T	NM_000448.3	NP_000439.2:p.(Arg108Ter)	NC_000011.9:g.36595176C>T	(Likely) pathogenic	3 labs	ddb7dc55b2
8:19809316 LPL G>C	8	19809316	19809316	G	C	LPL	c.286G>C	NM_000237.3	NP_000228.1:p.(Val96Leu)	NC_000008.10:g.19809316G>C	(Likely) pathogenic	2 labs	ddbb4b843d
16:70286631 AARS1 T>A	16	70286631	70286631	T	A	AARS1	c.2900A>T	NM_001605.3	NP_001596.2:p.(Lys967Met)	NC_000016.9:g.70286631T>A	(Likely) benign	2 labs	f99735432b
X:151336956 GABRA3 G>C	X	151336956	151336956	G	C	GABRA3	c.1223C>G	NM_000808.4	NP_000799.1:p.(Ala408Gly)	NC_000023.10:g.151336956G>C	VUS	2 labs	ddbd5acfb5
16:2160862 PKD1 G>A	16	2160862	2160862	G	A	PKD1	c.4306C>T	NM_001009944.2	NP_001009944.2:p.(Arg1436Ter)	NC_000016.9:g.2160862G>A	(Likely) pathogenic	3 labs	f9aba69ff0
X:18606106 CDKL5 C>T	X	18606106	18606106	C	T	CDKL5	c.587C>T	NM_001037343.1	NP_001032420.1:p.(Ser196Leu)	NC_000023.10:g.18606106C>T	(Likely) pathogenic	3 labs	f9bf4635c2
7:128484775 FLNC G>A	7	128484775	128484775	G	A	FLNC	c.3256G>A	NM_001458.5	NP_001449.3:p.(Asp1086Asn)	NC_000007.13:g.128484775G>A	VUS	2 labs	f9c30ebc50
7:94056349 COL1A2 C>T	7	94056349	94056349	C	T	COL1A2	c.3135C>T	NM_000089.4	NP_000080.2:p.(Gly1045=)	NC_000007.13:g.94056349C>T	(Likely) benign	3 labs	ddc457226b
3:48508705 TREX1 G>A	3	48508705	48508705	G	A	TREX1	c.651G>A	NM_033629.6	NP_338599.1:p.(Arg217=)	NC_000003.11:g.48508705G>A	(Likely) benign	2 labs	fa06a49528
15:42106923 MAPKBP1 G>A	15	42106923	42106923	G	A	MAPKBP1	c.1174G>A	NM_001128608.2	NP_001122080.1:p.(Val392Ile)	NC_000015.9:g.42106923G>A	(Likely) benign	2 labs	fa14954477
19:11303830 KANK2 C>T	19	11303830	11303830	C	T	KANK2	c.926G>A	NM_001136191.2	NP_001129663.1:p.(Arg309Gln)	NC_000019.9:g.11303830C>T	(Likely) benign	2 labs	fa1ab8357c
X:153589830 FLNA C>A	X	153589830	153589830	C	A	FLNA	c.3053G>T	NM_001456.4	NP_001447.2:p.(Cys1018Phe)	NC_000023.10:g.153589830C>A	VUS	2 labs	ddca089615
4:1807502 FGFR3 C>T	4	1807502	1807502	C	T	FGFR3	c.1677C>T	NM_001163213.1	NP_001156685.1:p.(Tyr559=)	NC_000004.11:g.1807502C>T	(Likely) benign	2 labs	fa49808132
2:234113007 INPP5D G>A	2	234113007	234113007	G	A	INPP5D	c.3211G>A	NM_001017915.3	NP_001017915.1:p.(Gly1071Ser)	NC_000002.11:g.234113007G>A	(Likely) benign	2 labs	fa70f7f7ef
9:27556780 C9orf72 G>A	9	27556780	27556780	G	A	C9orf72	c.870C>T	NM_001256054.3	NP_001242983.1:p.(Ser290=)	NC_000009.11:g.27556780G>A	(Likely) benign	2 labs	ddd9129506
10:27318207 ANKRD26 A>C	10	27318207	27318207	A	C	ANKRD26	c.3878+8T>G	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27318207A>C	(Likely) benign	2 labs	fab2740f1c
14:23856794 MYH6 G>A	14	23856794	23856794	G	A	MYH6	c.4594C>T	NM_002471.3	NP_002462.2:p.(Arg1532Cys)	NC_000014.8:g.23856794G>A	(Likely) benign	2 labs	fabad82af5
17:7574003 TP53 G>A	17	7574003	7574003	G	A	TP53	c.907C>T	NM_001126118.2	NP_001119590.1:p.(Arg303Ter)	NC_000017.10:g.7574003G>A	(Likely) pathogenic	2 labs	dddc0ebb9f
12:57970617 KIF5A G>A	12	57970617	57970617	G	A	KIF5A	c.2272G>A	NM_004984.4	NP_004975.2:p.(Glu758Lys)	NC_000012.11:g.57970617G>A	(Likely) benign	3 labs	dddeab2445
17:59886105 BRIP1 C>G	17	59886105	59886105	C	G	BRIP1	c.641G>C	NM_032043.3	NP_114432.2:p.(Cys214Ser)	NC_000017.10:g.59886105C>G	VUS	4 labs	dde0564df8
6:56323854 DST C>T	6	56323854	56323854	C	T	DST	c.16977G>A	NM_001144769.5	NP_001138241.1:p.(Thr5659=)	NC_000006.11:g.56323854C>T	(Likely) benign	2 labs	fabe59c390
12:88449443 CEP290 AT>A	12	88449443	88449451	AT	A	CEP290	c.6869del	NM_025114.4	NP_079390.3:p.(Asn2290IlefsTer11)	NC_000012.11:g.88449451del	(Likely) pathogenic	2 labs	facade7e1e
16:23652449 PALB2 G>C	16	23652449	23652449	G	C	PALB2	c.30C>G	NM_024675.3	NP_078951.2:p.(Ser10Arg)	NC_000016.9:g.23652449G>C	VUS	2 labs	fad0789055
17:17696872 RAI1 C>T	17	17696872	17696872	C	T	RAI1	c.610C>T	NM_030665.4	NP_109590.3:p.(Pro204Ser)	NC_000017.10:g.17696872C>T	(Likely) benign	3 labs	dde087fecc
2:27535635 MPV17 G>C	2	27535635	27535635	G	C	MPV17	c.191C>G	NM_002437.5	NP_002428.1:p.(Pro64Arg)	NC_000002.11:g.27535635G>C	(Likely) pathogenic	2 labs	fae39eadea
2:73799755 ALMS1 A>T	2	73799755	73799755	A	T	ALMS1	c.10754A>T	NM_015120.4	NP_055935.4:p.(Gln3585Leu)	NC_000002.11:g.73799755A>T	(Likely) benign	2 labs	fae5732999
17:41251825 BRCA1 G>A	17	41251825	41251825	G	A	BRCA1	c.514C>T	NM_007294.4	NP_009225.1:p.(Gln172Ter)	NC_000017.10:g.41251825G>A	(Likely) pathogenic	2 labs	dde3e74d06
12:80672064 OTOGL A>G	12	80672064	80672064	A	G	OTOGL	c.2789+9A>G	NM_173591.7	NP_775862.4:p.?	NC_000012.11:g.80672064A>G	(Likely) benign	2 labs	dde542cb06
12:2595304 CACNA1C C>A	12	2595304	2595304	C	A	CACNA1C	c.792C>A	NM_000719.7	NP_000710.5:p.(Ala264=)	NC_000012.11:g.2595304C>A	(Likely) benign	2 labs	dde5ef8848
7:150645577 KCNH2 G>A	7	150645577	150645577	G	A	KCNH2	c.2647C>T	NM_000238.3	NP_000229.1:p.(Arg883Trp)	NC_000007.13:g.150645577G>A	VUS	2 labs	fb2120e14d
10:50856643 CHAT C>T	10	50856643	50856643	C	T	CHAT	c.1126C>T	NM_001142933.1	NP_001136405.1:p.(Leu376Phe)	NC_000010.10:g.50856643C>T	(Likely) benign	2 labs	fb2d132305
8:133995588 TG T>A	8	133995588	133995588	T	A	TG	c.6200-7T>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133995588T>A	(Likely) benign	2 labs	fb3591d732
12:54675562 HNRNPA1 A>G	12	54675562	54675562	A	G	HNRNPA1	c.133-17A>G	NM_031157.4	NP_112420.1:p.?	NC_000012.11:g.54675562A>G	(Likely) benign	2 labs	fb3f1d9933
2:179427536 TTN T>C	2	179427536	179427536	T	C	TTN	c.83323A>G	NM_001267550.2	NP_001254479.2:p.(Ile27775Val)	NC_000002.11:g.179427536T>C	(Likely) benign	3 labs	ddea081cc5
17:41249297 BRCA1 G>T	17	41249297	41249297	G	T	BRCA1	c.557C>A	NM_007294.4	NP_009225.1:p.(Ser186Tyr)	NC_000017.10:g.41249297G>T	(Likely) benign	7 labs	ddec21b099
7:81662190 CACNA2D1 T>C	7	81662190	81662190	T	C	CACNA2D1	c.1066A>G	NM_000722.4	NP_000713.2:p.(Lys356Glu)	NC_000007.13:g.81662190T>C	VUS	2 labs	fb6f1267e2
3:38651433 SCN5A G>A	3	38651433	38651433	G	A	SCN5A	c.726C>T	NM_198056.3	NP_932173.1:p.(Ala242=)	NC_000003.11:g.38651433G>A	(Likely) benign	2 labs	fb834c33c4
10:89712015 PTEN C>A	10	89712015	89712015	C	A	PTEN	c.633C>A	NM_000314.4	NP_000305.3:p.(Cys211Ter)	NC_000010.10:g.89712015C>A	(Likely) pathogenic	2 labs	fba127bc20
12:88535298 CEP290 C>CA	12	88535298	88535299	C	CA	CEP290	c.-27-188dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88535299dup	(Likely) benign	2 labs	fb93b4c6cd
7:56088811 PSPH T>C	7	56088811	56088811	T	C	PSPH	c.95A>G	NM_004577.4	NP_004568.2:p.(Asp32Gly)	NC_000007.13:g.56088811T>C	(Likely) benign	2 labs	ddecd7ee06
17:39914049 JUP G>A	17	39914049	39914049	G	A	JUP	c.1774-13C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914049G>A	(Likely) benign	5 labs	ddf551a793
6:32036755 TNXB T>C	6	32036755	32036755	T	C	TNXB	c.5746A>G	NM_019105.8	NP_061978.6:p.(Thr1916Ala)	NC_000006.11:g.32036755T>C	(Likely) benign	2 labs	fbb55614fb
2:109382170 RANBP2 A>G	2	109382170	109382170	A	G	RANBP2	c.5175A>G	NM_006267.5	NP_006258.3:p.(Glu1725=)	NC_000002.11:g.109382170A>G	(Likely) benign	2 labs	ddfdd1b693
9:108380248 FKTN C>T	9	108380248	108380248	C	T	FKTN	c.919C>T	NM_001079802.2	NP_001073270.1:p.(Arg307Ter)	NC_000009.11:g.108380248C>T	(Likely) pathogenic	2 labs	fc396cc93d
4:106193892 TET2 C>A	4	106193892	106193892	C	A	TET2	c.4354C>A	NM_001127208.3	NP_001120680.1:p.(Arg1452=)	NC_000004.11:g.106193892C>A	(Likely) benign	2 labs	fc3f4ceb95
21:46924425 COL18A1 CGGCCCCCCA>C	21	46924425	46924448	CGGCCCCCCA	C	COL18A1	c.3377_3378=	NM_030582.4	NP_085059.2:p.(Pro1126=)	NC_000021.8:g.46924440_46924448del	(Likely) benign	4 labs	de14967713
14:23871714 MYH6 T>A	14	23871714	23871714	T	A	MYH6	c.1100A>T	NM_002471.3	NP_002462.2:p.(Gln367Leu)	NC_000014.8:g.23871714T>A	VUS	3 labs	fc5278edc9
4:6302893 WFS1 G>T	4	6302893	6302893	G	T	WFS1	c.1371G>T	NM_006005.3	NP_005996.2:p.(Arg457Ser)	NC_000004.11:g.6302893G>T	VUS	4 labs	de1e2e2d76
2:167145084 SCN9A G>A	2	167145084	167145084	G	A	SCN9A	c.1177C>T	NM_002977.3	NP_002968.1:p.(Leu393=)	NC_000002.11:g.167145084G>A	(Likely) benign	2 labs	fcaff87397
2:149227047 MBD5 C>T	2	149227047	149227047	C	T	MBD5	c.1535C>T	NM_018328.5	NP_060798.2:p.(Ser512Phe)	NC_000002.11:g.149227047C>T	(Likely) benign	2 labs	fcaea8c583
16:2168405 PKD1 G>A	16	2168405	2168405	G	A	PKD1	c.588C>T	NM_001009944.2	NP_001009944.2:p.(Ser196=)	NC_000016.9:g.2168405G>A	(Likely) benign	2 labs	fd0a27f76b
3:46901025 MYL3 C>T	3	46901025	46901025	C	T	MYL3	c.421G>A	NM_000258.3	NP_000249.1:p.(Asp141Asn)	NC_000003.11:g.46901025C>T	VUS	2 labs	fd0804c4f2
1:94544135 ABCA4 A>AC	1	94544135	94544141	A	AC	ABCA4	c.1356+10dup	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94544141dup	(Likely) benign	2 labs	de335767cc
7:128480130 FLNC GTTCGCGT>G	7	128480130	128480137	GTTCGCGT	G	FLNC	c.1466_1472del	NM_001458.5	NP_001449.3:p.(Val489GlyfsTer33)	NC_000007.13:g.128480131_128480137del	(Likely) pathogenic	2 labs	de399fbafa
3:4403837 SUMF1 A>G	3	4403837	4403837	A	G	SUMF1	c.1116T>C	NM_182760.4	NP_877437.2:p.(Thr372=)	NC_000003.11:g.4403837A>G	(Likely) benign	2 labs	de39cc2a64
19:38995998 RYR1 C>G	19	38995998	38995998	C	G	RYR1	c.8360C>G	NM_000540.2	NP_000531.2:p.(Thr2787Ser)	NC_000019.9:g.38995998C>G	(Likely) benign	3 labs	fd83675151
9:98244230 PTCH1 C>T	9	98244230	98244230	C	T	PTCH1	c.549G>A	NM_001354919.1	NP_001341848.1:p.(Leu183=)	NC_000009.11:g.98244230C>T	(Likely) pathogenic	2 labs	fdb5d88de5
2:179640208 TTN C>G	2	179640208	179640208	C	G	TTN	c.6245G>C	NM_133432.3	NP_597676.3:p.(Trp2082Ser)	NC_000002.11:g.179640208C>G	VUS	2 labs	fdb7d9e015
6:7580067 DSP A>G	6	7580067	7580067	A	G	DSP	c.3644A>G	NM_004415.2	NP_004406.2:p.(Asn1215Ser)	NC_000006.11:g.7580067A>G	VUS	2 labs	fdce8c0c23
19:17753685 UNC13A G>A	19	17753685	17753685	G	A	UNC13A	c.2441C>T	NM_001080421.3	NP_001073890.2:p.(Pro814Leu)	NC_000019.9:g.17753685G>A	(Likely) pathogenic	3 labs	fde587abdb
4:57357683 SRP72 T>C	4	57357683	57357683	T	C	SRP72	c.1589T>C	NM_006947.4	NP_008878.3:p.(Ile530Thr)	NC_000004.11:g.57357683T>C	(Likely) benign	2 labs	fde9287b07
11:71155171 DHCR7 C>T	11	71155171	71155171	C	T	DHCR7	c.189G>A	NM_001360.3	NP_001351.2:p.(Gln63=)	NC_000011.9:g.71155171C>T	(Likely) benign	2 labs	de538c46c1
12:8803182 MFAP5 C>T	12	8803182	8803182	C	T	MFAP5	c.251G>A	NM_003480.4	NP_003471.1:p.(Cys84Tyr)	NC_000012.11:g.8803182C>T	VUS	2 labs	fdffe23620
2:179597273 TTN A>G	2	179597273	179597273	A	G	TTN	c.16515T>C	NM_001267550.2	NP_001254479.2:p.(Ser5505=)	NC_000002.11:g.179597273A>G	(Likely) benign	3 labs	de56f52803
13:32913055 BRCA2 A>C	13	32913055	32913055	A	C	BRCA2	c.4563A>C	NM_000059.3	NP_000050.2:p.(Leu1521=)	NC_000013.10:g.32913055A>C	(Likely) benign	2 labs	fe17d28402
X:153009197 ABCD1 G>C	X	153009197	153009197	G	C	ABCD1	c.*8G>C	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153009197G>C	(Likely) benign	3 labs	fe17c0a5c6
12:110221570 TRPV4 C>T	12	110221570	110221570	C	T	TRPV4	c.2472G>A	NM_021625.4	NP_067638.3:p.(Ser824=)	NC_000012.11:g.110221570C>T	(Likely) benign	2 labs	fe5091679f
1:179521749 NPHS2 C>T	1	179521749	179521749	C	T	NPHS2	c.862G>A	NM_014625.3	NP_055440.1:p.(Ala288Thr)	NC_000001.10:g.179521749C>T	(Likely) pathogenic	2 labs	fe52ec9739
X:22051248 PHEX G>T	X	22051248	22051248	G	T	PHEX	c.118+7G>T	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22051248G>T	(Likely) benign	2 labs	fe55a8065b
4:15518271 CC2D2A C>T	4	15518271	15518271	C	T	CC2D2A	c.1041C>T	NM_001080522.2	NP_001073991.2:p.(Asp347=)	NC_000004.11:g.15518271C>T	(Likely) benign	2 labs	fe345ccf42
9:34648418 GALT C>T	9	34648418	34648418	C	T	GALT	c.652C>T	NM_000155.4	NP_000146.2:p.(Leu218=)	NC_000009.11:g.34648418C>T	(Likely) benign	2 labs	fe665284d2
1:22413029 CDC42 C>T	1	22413029	22413029	C	T	CDC42	c.276C>T	NM_001791.4	NP_001782.1:p.(Asn92=)	NC_000001.10:g.22413029C>T	(Likely) benign	2 labs	fe6b9d8063
20:50401133 SALL4 C>T	20	50401133	50401133	C	T	SALL4	c.1522G>A	NM_001318031.2	NP_001304960.1:p.(Asp508Asn)	NC_000020.10:g.50401133C>T	VUS	2 labs	de5ab044bc
1:237969422 RYR2 G>A	1	237969422	237969422	G	A	RYR2	c.14152-15G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237969422G>A	(Likely) benign	3 labs	fe73e9a58d
X:107840236 COL4A5 G>T	X	107840236	107840236	G	T	COL4A5	c.1525G>T	NM_033380.3	NP_203699.1:p.(Gly509Cys)	NC_000023.10:g.107840236G>T	(Likely) pathogenic	2 labs	fe760cc24b
1:158656281 SPTA1 T>C	1	158656281	158656281	T	C	SPTA1	c.24+3A>G	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158656281T>C	(Likely) benign	2 labs	de5eb6d658
5:10256161 CCT5 T>C	5	10256161	10256161	T	C	CCT5	c.426T>C	NM_012073.5	NP_036205.1:p.(Arg142=)	NC_000005.9:g.10256161T>C	(Likely) benign	3 labs	de63b32225
4:3494898 DOK7 C>T	4	3494898	3494898	C	T	DOK7	c.1185C>T	NM_173660.5	NP_775931.3:p.(Tyr395=)	NC_000004.11:g.3494898C>T	(Likely) benign	2 labs	fe906337c9
17:42153185 G6PC3 A>G	17	42153185	42153185	A	G	G6PC3	c.815A>G	NM_138387.3	NP_612396.1:p.(Gln272Arg)	NC_000017.10:g.42153185A>G	(Likely) benign	2 labs	feac1f4d44
16:88788235 PIEZO1 G>A	16	88788235	88788235	G	A	PIEZO1	c.5195C>T	NM_001142864.4	NP_001136336.2:p.(Thr1732Met)	NC_000016.9:g.88788235G>A	(Likely) benign	3 labs	feb7671746
17:41249347 BRCA1 T>C	17	41249347	41249347	T	C	BRCA1	c.548-41A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249347T>C	(Likely) benign	3 labs	fec65e83c0
1:235896898 LYST T>C	1	235896898	235896898	T	C	LYST	c.8706A>G	NM_001301365.1	NP_001288294.1:p.(Arg2902=)	NC_000001.10:g.235896898T>C	(Likely) benign	2 labs	fece02c50f
18:59739962 PIGN T>TA	18	59739962	59739975	T	TA	PIGN	c.2620-5dup	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59739975dup	(Likely) benign	2 labs	fef112e605
2:166797582 TTC21B T>A	2	166797582	166797582	T	A	TTC21B	c.665A>T	NM_024753.5	NP_079029.3:p.(Gln222Leu)	NC_000002.11:g.166797582T>A	(Likely) benign	2 labs	fef265f3e4
8:145007069 PLEC C>A	8	145007069	145007069	C	A	PLEC	c.2040G>T	NM_201380.4	NP_958782.1:p.(Glu680Asp)	NC_000008.10:g.145007069C>A	(Likely) benign	2 labs	ff5d12e14d
2:227906883 COL4A4 T>C	2	227906883	227906883	T	C	COL4A4	c.3486A>G	NM_000092.4	NP_000083.3:p.(Pro1162=)	NC_000002.11:g.227906883T>C	(Likely) benign	2 labs	ff6f8148ad
6:39893463 MOCS1 C>T	6	39893463	39893463	C	T	MOCS1	c.377G>A	NM_005943.6	NP_005934.2:p.(Gly126Asp)	NC_000006.11:g.39893463C>T	(Likely) pathogenic	2 labs	de86734231
5:251565 SDHA T>C	5	251565	251565	T	C	SDHA	c.1776T>C	NM_004168.4	NP_004159.2:p.(His592=)	NC_000005.9:g.251565T>C	(Likely) benign	2 labs	ff8f152b89
1:66102219 LEPR A>T	1	66102219	66102219	A	T	LEPR	c.3019A>T	NM_002303.6	NP_002294.2:p.(Ser1007Cys)	NC_000001.10:g.66102219A>T	(Likely) benign	2 labs	ffa3e000ba
2:1891259 MYT1L C>T	2	1891259	1891259	C	T	MYT1L	c.2642+1G>A	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1891259C>T	(Likely) pathogenic	2 labs	de8dcd79bb
1:228399519 OBSCN T>A	1	228399519	228399519	T	A	OBSCN	c.35T>A	NM_001271223.2	NP_001258152.2:p.(Phe12Tyr)	NC_000001.10:g.228399519T>A	(Likely) benign	2 labs	ffaa8c6444
16:2153747 PKD1 C>T	16	2153747	2153747	C	T	PKD1	c.8311G>A	NM_001009944.3	NP_001009944.3:p.(Glu2771Lys)	NC_000016.9:g.2153747C>T	(Likely) pathogenic	3 labs	ffb51ef78c
19:7141679 INSR G>C	19	7141679	7141679	G	C	INSR	c.2682+9C>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7141679G>C	(Likely) benign	2 labs	ffc29d8a79
2:179622288 TTN T>C	2	179622288	179622288	T	C	TTN	c.10521A>G	NM_133432.3	NP_597676.3:p.(Thr3507=)	NC_000002.11:g.179622288T>C	(Likely) benign	2 labs	ffe174c189
15:48744792 FBN1 C>T	15	48744792	48744792	C	T	FBN1	c.5512G>A	NM_000138.5	NP_000129.3:p.(Gly1838Ser)	NC_000015.9:g.48744792C>T	(Likely) pathogenic	2 labs	ffbe354bde
1:155261636 PKLR C>T	1	155261636	155261636	C	T	PKLR	c.1529G>A	NM_000298.6	NP_000289.1:p.(Arg510Gln)	NC_000001.10:g.155261636C>T	(Likely) pathogenic	2 labs	1319060f1b
1:3322132 PRDM16 C>A	1	3322132	3322132	C	A	PRDM16	c.1106C>A	NM_022114.4	NP_071397.3:p.(Pro369His)	NC_000001.10:g.3322132C>A	VUS	3 labs	de9fcdc824
2:73679106 ALMS1 C>T	2	73679106	73679106	C	T	ALMS1	c.5455C>T	NM_015120.4	NP_055935.4:p.(Arg1819Ter)	NC_000002.11:g.73679106C>T	(Likely) pathogenic	2 labs	42c3c732b4
17:76121922 TMC6 C>T	17	76121922	76121922	C	T	TMC6	c.315G>A	NM_007267.6	NP_009198.4:p.(Thr105=)	NC_000017.10:g.76121922C>T	(Likely) benign	2 labs	4fd07b89e3
18:53255634 TCF4 GA>G	18	53255634	53255646	GA	G	TCF4	c.-387del	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.53255646del	(Likely) benign	2 labs	6870712a0a
12:103288554 PAH G>T	12	103288554	103288554	G	T	PAH	c.311C>A	NM_000277.3	NP_000268.1:p.(Ala104Asp)	NC_000012.11:g.103288554G>T	(Likely) pathogenic	4 labs	baa8280cf4
6:31084090 CDSN G>T	6	31084090	31084090	G	T	CDSN	c.1302C>A	NM_001264.5	NP_001255.4:p.(Ser434Arg)	NC_000006.11:g.31084090G>T	(Likely) benign	2 labs	d91659f408
4:4862084 MSX1 C>A	4	4862084	4862084	C	A	MSX1	c.458C>A	NM_002448.3	NP_002439.2:p.(Pro153Gln)	NC_000004.11:g.4862084C>A	VUS	2 labs	deb22cadff
16:51172677 SALL1 G>A	16	51172677	51172677	G	A	SALL1	c.3456C>T	NM_002968.2	NP_002959.2:p.(His1152=)	NC_000016.9:g.51172677G>A	(Likely) benign	2 labs	00017c51ec
2:98354472 ZAP70 G>A	2	98354472	98354472	G	A	ZAP70	c.1638G>A	NM_001079.3	NP_001070.2:p.(Pro546=)	NC_000002.11:g.98354472G>A	(Likely) benign	2 labs	00023e5c1c
21:47852080 PCNT C>T	21	47852080	47852080	C	T	PCNT	c.8702C>T	NM_006031.5	NP_006022.3:p.(Pro2901Leu)	NC_000021.8:g.47852080C>T	(Likely) benign	2 labs	0007a271ac
9:304670 DOCK8 C>T	9	304670	304670	C	T	DOCK8	c.494C>T	NM_203447.3	NP_982272.2:p.(Ser165Leu)	NC_000009.11:g.304670C>T	(Likely) benign	2 labs	0008b7119c
12:23696243 SOX5 C>T	12	23696243	23696243	C	T	SOX5	c.1673G>A	NM_006940.6	NP_008871.3:p.(Arg558His)	NC_000012.11:g.23696243C>T	(Likely) pathogenic	3 labs	deb681bec7
16:3293323 MEFV C>T	16	3293323	3293323	C	T	MEFV	c.2164G>A	NM_000243.2	NP_000234.1:p.(Val722Met)	NC_000016.9:g.3293323C>T	VUS	3 labs	0010831d5c
X:153421915 OPN1LW C>G	X	153421915	153421915	C	G	OPN1LW	c.891C>G	NM_020061.5	NP_064445.2:p.(Tyr297Ter)	NC_000023.10:g.153421915C>G	(Likely) pathogenic	2 labs	001a0135bd
1:160249867 PEX19 A>AT	1	160249867	160249868	A	AT	PEX19	c.763dup	NM_002857.4	NP_002848.1:p.(Met255AsnfsTer25)	NC_000001.10:g.160249868dup	(Likely) pathogenic	2 labs	0021dd0ccd
1:151316324 RFX5 C>T	1	151316324	151316324	C	T	RFX5	c.590G>A	NM_000449.3	NP_000440.1:p.(Arg197Gln)	NC_000001.10:g.151316324C>T	(Likely) benign	2 labs	001e73174e
6:32049424 TNXB G>C	6	32049424	32049424	G	C	TNXB	c.3763C>G	NM_019105.6	NP_061978.6:p.(Arg1255Gly)	NC_000006.11:g.32049424G>C	(Likely) benign	2 labs	001efc26ba
9:135139936 SETX G>A	9	135139936	135139936	G	A	SETX	c.7724C>T	NM_015046.7	NP_055861.3:p.(Pro2575Leu)	NC_000009.11:g.135139936G>A	(Likely) benign	3 labs	0023154678
7:117149123 CFTR C>T	7	117149123	117149123	C	T	CFTR	c.200C>T	NM_000492.4	NP_000483.3:p.(Pro67Leu)	NC_000007.13:g.117149123C>T	(Likely) pathogenic	2 labs	dec232b239
X:152807923 ATP2B3 G>C	X	152807923	152807923	G	C	ATP2B3	c.790+17G>C	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152807923G>C	(Likely) benign	2 labs	003f7a5d90
13:32912173 BRCA2 G>C	13	32912173	32912173	G	C	BRCA2	c.3681G>C	NM_000059.3	NP_000050.2:p.(Leu1227=)	NC_000013.10:g.32912173G>C	(Likely) benign	2 labs	00424bf7da
6:152748858 SYNE1 G>C	6	152748858	152748858	G	C	SYNE1	c.5070C>G	NM_182961.3	NP_892006.3:p.(Val1690=)	NC_000006.11:g.152748858G>C	(Likely) benign	2 labs	00465eb7f4
16:2161264 PKD1 C>T	16	2161264	2161264	C	T	PKD1	c.3904G>A	NM_001009944.2	NP_001009944.2:p.(Ala1302Thr)	NC_000016.9:g.2161264C>T	(Likely) benign	2 labs	00658088fe
12:81010011 MISSING A>C	12	81010011	81010011	A	C	MISSING				NC_000012.11:g.81010011A>C	(Likely) benign	2 labs	006cf959dd
19:54385820 PRKCG C>T	19	54385820	54385820	C	T	PRKCG	c.72C>T	NM_002739.5	NP_002730.1:p.(Ala24=)	NC_000019.9:g.54385820C>T	(Likely) benign	3 labs	006d784574
1:247587531 NLRP3 A>G	1	247587531	247587531	A	G	NLRP3	c.780A>G	NM_001243133.2	NP_001230062.1:p.(Arg260=)	NC_000001.10:g.247587531A>G	(Likely) benign	2 labs	dec4b5739e
2:97009839 NCAPH T>G	2	97009839	97009839	T	G	NCAPH	c.596-4T>G	NM_015341.5	NP_056156.2:p.?	NC_000002.11:g.97009839T>G	(Likely) benign	2 labs	007b61e329
17:48266160 COL1A1 C>CAGAG	17	48266160	48266177	C	CAGAG	COL1A1	c.3046-8_3046-5dup	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266174_48266177dup	(Likely) benign	2 labs	0078c09827
1:57411632 C8B G>A	1	57411632	57411632	G	A	C8B	c.811C>T	NM_001278543.2	NP_001265472.2:p.(Arg271Trp)	NC_000001.10:g.57411632G>A	VUS	2 labs	0083d32c80
1:74808631 TNNI3K C>T	1	74808631	74808631	C	T	TNNI3K	c.788C>T	NM_015978.2	NP_057062.1:p.(Pro263Leu)	NC_000001.10:g.74808631C>T	(Likely) benign	2 labs	008c02a623
15:89862237 POLG C>T	15	89862237	89862237	C	T	POLG	c.3198G>A	NM_002693.3	NP_002684.1:p.(Thr1066=)	NC_000015.9:g.89862237C>T	(Likely) benign	2 labs	00984398aa
4:79385647 FRAS1 C>T	4	79385647	79385647	C	T	FRAS1	c.6939C>T	NM_025074.7	NP_079350.5:p.(Pro2313=)	NC_000004.11:g.79385647C>T	(Likely) benign	2 labs	00a2a45fa5
1:55509584 PCSK9 G>A	1	55509584	55509584	G	A	PCSK9	c.276G>A	NM_174936.4	NP_777596.2:p.(Glu92=)	NC_000001.10:g.55509584G>A	(Likely) benign	2 labs	dec6eb3411
15:90171738 KIF7 G>A	15	90171738	90171738	G	A	KIF7	c.3944C>T	NM_198525.3	NP_940927.2:p.(Pro1315Leu)	NC_000015.9:g.90171738G>A	(Likely) benign	4 labs	dec80e1645
6:33169688 SLC39A7 T>A	6	33169688	33169688	T	A	SLC39A7	c.578T>A	NM_006979.3	NP_008910.2:p.(Leu193His)	NC_000006.11:g.33169688T>A	VUS	2 labs	00aa4deccb
14:76549876 IFT43 C>T	14	76549876	76549876	C	T	IFT43	c.598C>T	NM_052873.2	NP_443105.2:p.(Gln200Ter)	NC_000014.8:g.76549876C>T	VUS	2 labs	00ab6ef7d7
15:85345216 ZNF592 C>T	15	85345216	85345216	C	T	ZNF592	c.3396C>T	NM_014630.2	NP_055445.2:p.(Ala1132=)	NC_000015.9:g.85345216C>T	(Likely) benign	2 labs	00b03a18fa
9:130242166 LRSAM1 A>G	9	130242166	130242166	A	G	LRSAM1	c.952A>G	NM_138361.5	NP_612370.3:p.(Asn318Asp)	NC_000009.11:g.130242166A>G	(Likely) benign	2 labs	decb0d838b
21:47754576 PCNT A>C	21	47754576	47754576	A	C	PCNT	c.533A>C	NM_006031.6	NP_006022.3:p.(Gln178Pro)	NC_000021.8:g.47754576A>C	(Likely) benign	2 labs	decd2efbe7
11:57427367 CLP1 G>A	11	57427367	57427367	G	A	CLP1	c.419G>A	NM_006831.2	NP_006822.1:p.(Arg140His)	NC_000011.9:g.57427367G>A	(Likely) pathogenic	2 labs	00b889d178
2:179457530 TTN C>T	2	179457530	179457530	C	T	TTN	c.59316G>A	NM_001267550.2	NP_001254479.2:p.(Pro19772=)	NC_000002.11:g.179457530C>T	(Likely) benign	3 labs	00c0ce5e1f
17:18041507 MYO15A C>T	17	18041507	18041507	C	T	MYO15A	c.4954C>T	NM_016239.4	NP_057323.3:p.(Leu1652=)	NC_000017.10:g.18041507C>T	(Likely) benign	2 labs	dece8d4c28
11:73796878 C2CD3 T>C	11	73796878	73796878	T	C	C2CD3	c.3695A>G	NM_001286577.1	NP_001273506.1:p.(Asn1232Ser)	NC_000011.9:g.73796878T>C	(Likely) benign	2 labs	00bdd61cb0
2:47168774 TTC7A C>G	2	47168774	47168774	C	G	TTC7A	c.94C>G	NM_001288951.1	NP_001275880.1:p.(Leu32Val)	NC_000002.11:g.47168774C>G	(Likely) benign	2 labs	00c92bcf0f
X:153296471 MECP2 G>A	X	153296471	153296471	G	A	MECP2	c.808C>T	NM_004992.3	NP_004983.1:p.(Arg270Ter)	NC_000023.10:g.153296471G>A	(Likely) pathogenic	3 labs	00d19f41b0
13:32903659 BRCA2 T>C	13	32903659	32903659	T	C	BRCA2	c.681+30T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903659T>C	(Likely) benign	2 labs	00cdd75416
16:2160644 PKD1 G>A	16	2160644	2160644	G	A	PKD1	c.4524C>T	NM_001009944.2	NP_001009944.2:p.(Leu1508=)	NC_000016.9:g.2160644G>A	(Likely) benign	2 labs	00d56d0a5d
6:15593319 DTNBP1 GA>G	6	15593319	15593333	GA	G	DTNBP1	c.489-8del	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593333del	(Likely) benign	2 labs	00d0e530b5
2:152544153 NEB T>C	2	152544153	152544153	T	C	NEB	c.2510A>G	NM_001271208.1	NP_001258137.1:p.(Lys837Arg)	NC_000002.11:g.152544153T>C	(Likely) benign	3 labs	00d82b0faa
1:3746514 CEP104 C>A	1	3746514	3746514	C	A	CEP104	c.1884G>T	NM_014704.3	NP_055519.1:p.(Thr628=)	NC_000001.10:g.3746514C>A	(Likely) benign	2 labs	00ddc8dca0
12:6128795 VWF C>T	12	6128795	6128795	C	T	VWF	c.3789G>A	NM_000552.3	NP_000543.2:p.(Ser1263=)	NC_000012.11:g.6128795C>T	(Likely) benign	3 labs	00e0d428e6
7:73466161 ELN G>C	7	73466161	73466161	G	C	ELN	c.881G>C	NM_001278939.2	NP_001265868.1:p.(Gly294Ala)	NC_000007.13:g.73466161G>C	VUS	2 labs	dede26f397
6:118880029 PLN C>T	6	118880029	118880029	C	T	PLN	c.-56C>T	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880029C>T	(Likely) benign	3 labs	00f4984ac3
6:56485023 DST T>C	6	56485023	56485023	T	C	DST	c.3809A>G	NM_001723.7	NP_001714.1:p.(Lys1270Arg)	NC_000006.11:g.56485023T>C	(Likely) benign	2 labs	00f545e32f
2:29295016 PCARE A>G	2	29295016	29295016	A	G	PCARE	c.2112T>C	NM_001029883.2	NP_001025054.1:p.(Asn704=)	NC_000002.11:g.29295016A>G	(Likely) benign	2 labs	00fb79a770
17:17696987 RAI1 C>T	17	17696987	17696987	C	T	RAI1	c.725C>T	NM_030665.4	NP_109590.3:p.(Pro242Leu)	NC_000017.10:g.17696987C>T	(Likely) benign	3 labs	00ff0a12ec
1:160295402 COPA C>T	1	160295402	160295402	C	T	COPA	c.537G>A	NM_001098398.2	NP_001091868.1:p.(Ser179=)	NC_000001.10:g.160295402C>T	(Likely) benign	2 labs	00fc548aa4
2:179498818 TTN G>A	2	179498818	179498818	G	A	TTN	c.42416-8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179498818G>A	(Likely) benign	2 labs	00fc5dd674
2:179416758 TTN A>C	2	179416758	179416758	A	C	TTN	c.83165T>G	NM_133378.4	NP_596869.4:p.(Val27722Gly)	NC_000002.11:g.179416758A>C	VUS	2 labs	01036146a1
16:57005301 CETP C>T	16	57005301	57005301	C	T	CETP	c.658+8C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005301C>T	(Likely) benign	2 labs	dee61b841c
19:18271390 PIK3R2 C>CT	19	18271390	18271391	C	CT	PIK3R2	c.415+18dup	NM_005027.4	NP_005018.2:p.?	NC_000019.9:g.18271391dup	(Likely) benign	2 labs	010222f96e
9:135144795 SETX G>A	9	135144795	135144795	G	A	SETX	c.7369C>T	NM_001351528.2	NP_001338457.1:p.(Leu2457Phe)	NC_000009.11:g.135144795G>A	(Likely) benign	2 labs	0103370be7
16:2142103 PKD1 C>G	16	2142103	2142103	C	G	PKD1	c.11356G>C	NM_001009944.2	NP_001009944.2:p.(Glu3786Gln)	NC_000016.9:g.2142103C>G	(Likely) benign	3 labs	01086702ee
3:58417676 PDHB A>G	3	58417676	58417676	A	G	PDHB	c.132T>C	NM_000925.4	NP_000916.2:p.(Asp44=)	NC_000003.11:g.58417676A>G	(Likely) benign	2 labs	0110d8a5c4
11:103026040 DYNC2H1 CT>C	11	103026040	103026052	CT	C	DYNC2H1	c.3574-8del	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103026052del	(Likely) benign	4 labs	011725de4c
4:10099381 WDR1 G>A	4	10099381	10099381	G	A	WDR1	c.512C>T	NM_017491.4	NP_059830.1:p.(Ala171Val)	NC_000004.11:g.10099381G>A	(Likely) benign	2 labs	0121119dce
6:152510429 SYNE1 G>A	6	152510429	152510429	G	A	SYNE1	c.23259C>T	NM_182961.4	NP_892006.3:p.(Arg7753=)	NC_000006.11:g.152510429G>A	(Likely) benign	3 labs	dee62c55e6
21:43802210 TMPRSS3 C>T	21	43802210	43802210	C	T	TMPRSS3	c.916G>A	NM_024022.2	NP_076927.1:p.(Ala306Thr)	NC_000021.8:g.43802210C>T	(Likely) pathogenic	2 labs	0125aa3d49
9:79897155 VPS13A A>G	9	79897155	79897155	A	G	VPS13A	c.3083A>G	NM_033305.3	NP_150648.2:p.(Glu1028Gly)	NC_000009.11:g.79897155A>G	(Likely) benign	2 labs	deedde9a02
2:179443937 TTN G>A	2	179443937	179443937	G	A	TTN	c.67820C>T	NM_001267550.2	NP_001254479.2:p.(Thr22607Ile)	NC_000002.11:g.179443937G>A	VUS	3 labs	deee4c0bfa
1:161599655 FCGR3B C>T	1	161599655	161599655	C	T	FCGR3B	c.181G>A	NM_001271036.1	NP_001257965.1:p.(Ala61Thr)	NC_000001.10:g.161599655C>T	(Likely) benign	2 labs	01306645d2
10:75854182 VCL G>A	10	75854182	75854182	G	A	VCL	c.1506G>A	NM_014000.3	NP_054706.1:p.(Arg502=)	NC_000010.10:g.75854182G>A	(Likely) benign	3 labs	012aa92cfe
19:36583651 WDR62 G>A	19	36583651	36583651	G	A	WDR62	c.2271G>A	NM_001083961.1	NP_001077430.1:p.(Leu757=)	NC_000019.9:g.36583651G>A	(Likely) benign	2 labs	013310bf95
4:88583135 DMP1 A>T	4	88583135	88583135	A	T	DMP1	c.205A>T	NM_004407.4	NP_004398.1:p.(Ser69Cys)	NC_000004.11:g.88583135A>T	(Likely) benign	2 labs	def28278f7
12:88483012 CEP290 C>T	12	88483012	88483012	C	T	CEP290	c.3826G>A	NM_025114.3	NP_079390.3:p.(Gly1276Arg)	NC_000012.11:g.88483012C>T	VUS	2 labs	01346bef75
22:30067836 NF2 C>T	22	30067836	30067836	C	T	NF2	c.1021C>T	NM_000268.3	NP_000259.1:p.(Arg341Ter)	NC_000022.10:g.30067836C>T	(Likely) pathogenic	2 labs	013875826a
1:197102468 ASPM C>T	1	197102468	197102468	C	T	ASPM	c.2419+12G>A	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197102468C>T	(Likely) benign	2 labs	01393580fd
1:27700455 FCN3 C>T	1	27700455	27700455	C	T	FCN3	c.232+1G>A	NM_003665.2	NP_003656.2:p.?	NC_000001.10:g.27700455C>T	VUS	3 labs	013a71ecab
1:35226890 GJB4 G>A	1	35226890	35226890	G	A	GJB4	c.35G>A	NM_153212.3	NP_694944.1:p.(Gly12Asp)	NC_000001.10:g.35226890G>A	(Likely) pathogenic	2 labs	0141c37c84
15:89858549 FANCI C>T	15	89858549	89858549	C	T	FANCI	c.3853C>T	NM_001113378.2	NP_001106849.1:p.(Arg1285Ter)	NC_000015.9:g.89858549C>T	(Likely) pathogenic	2 labs	0155151b35
17:18055266 MYO15A G>A	17	18055266	18055266	G	A	MYO15A	c.7893+1G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18055266G>A	(Likely) pathogenic	2 labs	014ff464b9
6:129691111 LAMA2 C>A	6	129691111	129691111	C	A	LAMA2	c.4935C>A	NM_000426.3	NP_000417.2:p.(Thr1645=)	NC_000006.11:g.129691111C>A	(Likely) benign	3 labs	0152527c6d
1:227071449 PSEN2 G>A	1	227071449	227071449	G	A	PSEN2	c.185G>A	NM_000447.3	NP_000438.2:p.(Arg62His)	NC_000001.10:g.227071449G>A	(Likely) benign	3 labs	014d54b054
15:85382193 ALPK3 C>A	15	85382193	85382193	C	A	ALPK3	c.305-18C>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85382193C>A	(Likely) benign	3 labs	01579f4a6f
3:129238525 IFT122 C>T	3	129238525	129238525	C	T	IFT122	c.3739C>T	NM_052985.3	NP_443711.2:p.(Arg1247Cys)	NC_000003.11:g.129238525C>T	VUS	2 labs	0156586716
17:29556955 NF1 C>T	17	29556955	29556955	C	T	NF1	c.2953C>T	NM_000267.3	NP_000258.1:p.(Gln985Ter)	NC_000017.10:g.29556955C>T	(Likely) pathogenic	2 labs	0158691962
4:151770608 LRBA A>C	4	151770608	151770608	A	C	LRBA	c.4124T>G	NM_001367550.1	NP_001354479.1:p.(Ile1375Arg)	NC_000004.11:g.151770608A>C	VUS	2 labs	015f91a998
1:241665769 FH C>A	1	241665769	241665769	C	A	FH	c.1210G>T	NM_000143.3	NP_000134.2:p.(Glu404Ter)	NC_000001.10:g.241665769C>A	(Likely) pathogenic	3 labs	0162f6245e
10:17088067 CUBN A>G	10	17088067	17088067	A	G	CUBN	c.3356T>C	NM_001081.3	NP_001072.2:p.(Leu1119Ser)	NC_000010.10:g.17088067A>G	(Likely) benign	2 labs	0163aceeec
5:171773272 SH3PXD2B C>A	5	171773272	171773272	C	A	SH3PXD2B	c.1063-7G>T	NM_001017995.2	NP_001017995.1:p.?	NC_000005.9:g.171773272C>A	(Likely) benign	2 labs	017184ec68
2:179585188 TTN G>A	2	179585188	179585188	G	A	TTN	c.23301C>T	NM_001267550.2	NP_001254479.2:p.(Ser7767=)	NC_000002.11:g.179585188G>A	(Likely) benign	3 labs	df01e85547
18:32431776 DTNA T>C	18	32431776	32431776	T	C	DTNA	c.1174-19T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32431776T>C	(Likely) benign	2 labs	df044419e5
4:36310102 DTHD1 C>T	4	36310102	36310102	C	T	DTHD1	c.1212C>T	NM_001136536.5	NP_001130008.2:p.(Asn404=)	NC_000004.11:g.36310102C>T	(Likely) benign	2 labs	017fb718a7
17:73269698 SLC25A19 A>C	17	73269698	73269698	A	C	SLC25A19	c.797T>G	NM_001126122.1	NP_001119594.1:p.(Met266Arg)	NC_000017.10:g.73269698A>C	VUS	2 labs	018ae14090
14:76045992 FLVCR2 G>A	14	76045992	76045992	G	A	FLVCR2	c.669+8G>A	NM_017791.2	NP_060261.2:p.?	NC_000014.8:g.76045992G>A	(Likely) benign	2 labs	018f3369c2
X:106109101 TBC1D8B G>A	X	106109101	106109101	G	A	TBC1D8B	c.2500G>A	NM_017752.2	NP_060222.2:p.(Glu834Lys)	NC_000023.10:g.106109101G>A	(Likely) benign	3 labs	01906ec32b
1:216270451 USH2A G>A	1	216270451	216270451	G	A	USH2A	c.4732C>T	NM_206933.4	NP_996816.3:p.(Arg1578Cys)	NC_000001.10:g.216270451G>A	(Likely) pathogenic	3 labs	0193aa7824
15:28474400 HERC2 C>G	15	28474400	28474400	C	G	HERC2	c.5213G>C	NM_004667.5	NP_004658.3:p.(Trp1738Ser)	NC_000015.9:g.28474400C>G	VUS	2 labs	019fdf8549
9:139404382 NOTCH1 G>A	9	139404382	139404382	G	A	NOTCH1	c.2772C>T	NM_017617.5	NP_060087.3:p.(Asp924=)	NC_000009.11:g.139404382G>A	(Likely) benign	2 labs	01a1b22288
17:43344058 MAP3K14 C>T	17	43344058	43344058	C	T	MAP3K14	c.2434-10G>A	NM_003954.5	NP_003945.2:p.?	NC_000017.10:g.43344058C>T	(Likely) benign	2 labs	01b7e891a4
17:78091564 GAA G>A	17	78091564	78091564	G	A	GAA	c.2481+16G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78091564G>A	(Likely) benign	3 labs	01b9a11352
9:34500821 DNAI1 G>A	9	34500821	34500821	G	A	DNAI1	c.1003G>A	NM_012144.4	NP_036276.1:p.(Val335Ile)	NC_000009.11:g.34500821G>A	(Likely) benign	2 labs	01c0c808a5
14:24709057 TINF2 G>A	14	24709057	24709057	G	A	TINF2	c.1302C>T	NM_001099274.1	NP_001092744.1:p.(His434=)	NC_000014.8:g.24709057G>A	(Likely) benign	2 labs	01c7b1e454
5:127645025 FBN2 T>C	5	127645025	127645025	T	C	FBN2	c.5267A>G	NM_001999.3	NP_001990.2:p.(Asn1756Ser)	NC_000005.9:g.127645025T>C	VUS	3 labs	01d55611ec
11:792341 SLC25A22 A>G	11	792341	792341	A	G	SLC25A22	c.705T>C	NM_001191060.1	NP_001177989.1:p.(Ala235=)	NC_000011.9:g.792341A>G	(Likely) benign	2 labs	01d9d57386
2:238283511 COL6A3 G>A	2	238283511	238283511	G	A	COL6A3	c.3223C>T	NM_004369.3	NP_004360.2:p.(Arg1075Trp)	NC_000002.11:g.238283511G>A	VUS	2 labs	01e8d90222
3:14199738 XPC GCA>G	3	14199738	14199744	GCA	G	XPC	c.1643_1644del	NM_004628.5	NP_004619.3:p.(Val548AlafsTer25)	NC_000003.11:g.14199743_14199744del	(Likely) pathogenic	2 labs	01f974c508
X:71425175 ERCC6L C>T	X	71425175	71425175	C	T	ERCC6L	c.3073G>A	NM_001009954.2	NP_001009954.1:p.(Gly1025Arg)	NC_000023.10:g.71425175C>T	(Likely) benign	2 labs	01fd9db7a9
11:44297022 ALX4 C>T	11	44297022	44297022	C	T	ALX4	c.653G>A	NM_021926.4	NP_068745.2:p.(Arg218Gln)	NC_000011.9:g.44297022C>T	(Likely) pathogenic	2 labs	01fdc7b744
11:47356634 MYBPC3 G>T	11	47356634	47356634	G	T	MYBPC3	c.2864C>A	NM_000256.3	NP_000247.2:p.(Pro955His)	NC_000011.9:g.47356634G>T	VUS	2 labs	02042e2d4a
10:50701212 ERCC6 G>A	10	50701212	50701212	G	A	ERCC6	c.1772C>T	NM_000124.2	NP_000115.1:p.(Pro591Leu)	NC_000010.10:g.50701212G>A	VUS	2 labs	020a819880
19:54387497 PRKCG C>T	19	54387497	54387497	C	T	PRKCG	c.285C>T	NM_002739.3	NP_002730.1:p.(Asp95=)	NC_000019.9:g.54387497C>T	(Likely) benign	2 labs	020b4b0fc8
20:44523782 CTSA C>T	20	44523782	44523782	C	T	CTSA	c.1088+10C>T	NM_001127695.3	NP_001121167.1:p.?	NC_000020.10:g.44523782C>T	(Likely) benign	2 labs	df1bc9dab6
X:136649512 ZIC3 C>CCATGAA	X	136649512	136649528	C	CCATGAA	ZIC3	c.673_678dup	NM_003413.3	NP_003404.1:p.(Asn225_Met226dup)	NC_000023.10:g.136649523_136649528dup	VUS	2 labs	0210bc0074
16:3779184 CREBBP G>A	16	3779184	3779184	G	A	CREBBP	c.5864C>T	NM_004380.3	NP_004371.2:p.(Ala1955Val)	NC_000016.9:g.3779184G>A	VUS	2 labs	df23fd6375
2:182468803 CERKL T>G	2	182468803	182468803	T	G	CERKL	c.242A>C	NM_001030311.2	NP_001025482.1:p.(Asp81Ala)	NC_000002.11:g.182468803T>G	(Likely) benign	2 labs	021b22b6d4
2:73718192 ALMS1 ACTC>A	2	73718192	73718200	ACTC	A	ALMS1	c.9115_9117del	NM_015120.4	NP_055935.4:p.(Pro3039del)	NC_000002.11:g.73718198_73718200del	(Likely) benign	2 labs	df2e2660d4
11:102991516 DYNC2H1 A>G	11	102991516	102991516	A	G	DYNC2H1	c.1233A>G	NM_001080463.1	NP_001073932.1:p.(Gln411=)	NC_000011.9:g.102991516A>G	(Likely) benign	2 labs	021e561668
X:67412767 OPHN1 A>C	X	67412767	67412767	A	C	OPHN1	c.1270T>G	NM_002547.2	NP_002538.1:p.(Phe424Val)	NC_000023.10:g.67412767A>C	VUS	2 labs	02218e65a9
1:8418972 RERE G>A	1	8418972	8418972	G	A	RERE	c.3623C>T	NM_012102.4	NP_036234.3:p.(Ala1208Val)	NC_000001.10:g.8418972G>A	(Likely) benign	2 labs	df2f9ddd07
X:63412766 AMER1 T>G	X	63412766	63412766	T	G	AMER1	c.401A>C	NM_152424.4	NP_689637.3:p.(His134Pro)	NC_000023.10:g.63412766T>G	(Likely) benign	4 labs	df30d39bb7
12:114837371 TBX5 G>A	12	114837371	114837371	G	A	TBX5	c.309C>T	NM_000192.3	NP_000183.2:p.(Leu103=)	NC_000012.11:g.114837371G>A	(Likely) benign	2 labs	0226fee7e9
19:3982347 EEF2 C>T	19	3982347	3982347	C	T	EEF2	c.688G>A	NM_001961.3	NP_001952.1:p.(Glu230Lys)	NC_000019.9:g.3982347C>T	VUS	2 labs	03abe5f5f5
17:33904939 PEX12 T>A	17	33904939	33904939	T	A	PEX12	c.102A>T	NM_000286.3	NP_000277.1:p.(Arg34Ser)	NC_000017.10:g.33904939T>A	(Likely) benign	3 labs	0221953c67
12:64849716 TBK1 T>C	12	64849716	64849716	T	C	TBK1	c.66T>C	NM_013254.4	NP_037386.1:p.(Asn22=)	NC_000012.11:g.64849716T>C	(Likely) benign	2 labs	022d5a24f9
X:3239659 MXRA5 C>T	X	3239659	3239659	C	T	MXRA5	c.4067G>A	NM_015419.3	NP_056234.2:p.(Arg1356His)	NC_000023.10:g.3239659C>T	(Likely) benign	2 labs	023e59cd47
1:151315018 RFX5 G>A	1	151315018	151315018	G	A	RFX5	c.1495C>T	NM_000449.3	NP_000440.1:p.(Pro499Ser)	NC_000001.10:g.151315018G>A	(Likely) benign	2 labs	024a7b74f5
9:124065235 GSN C>T	9	124065235	124065235	C	T	GSN	c.351C>T	NM_001127663.1	NP_001121135.2:p.(Thr117=)	NC_000009.11:g.124065235C>T	(Likely) benign	3 labs	024be36629
2:179413637 TTN C>T	2	179413637	179413637	C	T	TTN	c.92716G>A	NM_001267550.1	NP_001254479.1:p.(Asp30906Asn)	NC_000002.11:g.179413637C>T	VUS	2 labs	0251323be7
6:133849868 EYA4 C>T	6	133849868	133849868	C	T	EYA4	c.1845C>T	NM_004100.5	NP_004091.3:p.(Asn615=)	NC_000006.11:g.133849868C>T	(Likely) benign	4 labs	025295f9bc
10:92675522 ANKRD1 C>T	10	92675522	92675522	C	T	ANKRD1	c.750+17G>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675522C>T	(Likely) benign	4 labs	df43824a35
2:47698172 MSH2 T>C	2	47698172	47698172	T	C	MSH2	c.1730T>C	NM_000251.3	NP_000242.1:p.(Ile577Thr)	NC_000002.11:g.47698172T>C	(Likely) benign	4 labs	df4e11c4f1
14:23859518 MYH6 G>A	14	23859518	23859518	G	A	MYH6	c.3480C>T	NM_002471.4	NP_002462.2:p.(Ser1160=)	NC_000014.8:g.23859518G>A	(Likely) benign	4 labs	df4e6188aa
12:25398281 KRAS C>T	12	25398281	25398281	C	T	KRAS	c.38G>A	NM_033360.3	NP_203524.1:p.(Gly13Asp)	NC_000012.11:g.25398281C>T	(Likely) pathogenic	2 labs	0264b76b5d
11:124761368 ROBO4 C>T	11	124761368	124761368	C	T	ROBO4	c.1775G>A	NM_019055.5	NP_061928.4:p.(Ser592Asn)	NC_000011.9:g.124761368C>T	(Likely) benign	2 labs	026af6eb12
8:145622990 CPSF1 GCCACTGC>G	8	145622990	145622997	GCCACTGC	G	CPSF1	c.2171_2177del	NM_013291.3	NP_037423.2:p.(Arg724ProfsTer83)	NC_000008.10:g.145622991_145622997del	VUS	2 labs	026be6c975
1:214795521 CENPF T>C	1	214795521	214795521	T	C	CENPF	c.965T>C	NM_016343.4	NP_057427.3:p.(Leu322Pro)	NC_000001.10:g.214795521T>C	VUS	2 labs	026c168b5b
13:32915082 BRCA2 CTG>C	13	32915082	32915084	CTG	C	BRCA2	c.6591_6592del	NM_000059.4	NP_000050.3:p.(Glu2198AsnfsTer4)	NC_000013.10:g.32915083_32915084del	(Likely) pathogenic	4 labs	027a2819a0
3:37045935 MLH1 C>T	3	37045935	37045935	C	T	MLH1	c.350C>T	NM_000249.3	NP_000240.1:p.(Thr117Met)	NC_000003.11:g.37045935C>T	(Likely) pathogenic	3 labs	027e745924
6:152456241 SYNE1 T>C	6	152456241	152456241	T	C	SYNE1	c.25786A>G	NM_182961.3	NP_892006.3:p.(Met8596Val)	NC_000006.11:g.152456241T>C	(Likely) benign	2 labs	027fd4a8af
4:996232 IDUA G>A	4	996232	996232	G	A	IDUA	c.1148G>A	NM_000203.5	NP_000194.2:p.(Arg383His)	NC_000004.11:g.996232G>A	(Likely) pathogenic	2 labs	028344e7e3
10:79785863 POLR3A C>T	10	79785863	79785863	C	T	POLR3A	c.169G>A	NM_007055.3	NP_008986.2:p.(Asp57Asn)	NC_000010.10:g.79785863C>T	VUS	2 labs	028863e11b
17:29557945 NF1 T>C	17	29557945	29557945	T	C	NF1	c.3197+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557945T>C	(Likely) pathogenic	2 labs	0289633ee7
5:56111858 MAP3K1 C>T	5	56111858	56111858	C	T	MAP3K1	c.458C>T	NM_005921.1	NP_005912.1:p.(Pro153Leu)	NC_000005.9:g.56111858C>T	(Likely) benign	2 labs	02942a3eeb
22:21344765 LZTR1 G>A	22	21344765	21344765	G	A	LZTR1	c.742G>A	NM_006767.4	NP_006758.2:p.(Gly248Arg)	NC_000022.10:g.21344765G>A	(Likely) pathogenic	2 labs	df5bf4f885
12:22078910 ABCC9 A>G	12	22078910	22078910	A	G	ABCC9	c.372T>C	NM_001377273.1	NP_001364202.1:p.(Asn124=)	NC_000012.11:g.22078910A>G	(Likely) benign	4 labs	0294e76e9f
18:44101094 LOXHD1 A>G	18	44101094	44101094	A	G	LOXHD1	c.1904T>C	NM_001145472.2	NP_001138944.1:p.(Leu635Pro)	NC_000018.9:g.44101094A>G	VUS	2 labs	029db973d9
15:90210172 PLIN1 C>T	15	90210172	90210172	C	T	PLIN1	c.1204G>A	NM_002666.5	NP_002657.3:p.(Val402Met)	NC_000015.9:g.90210172C>T	(Likely) benign	2 labs	df631626ab
9:463649 DOCK8 A>G	9	463649	463649	A	G	DOCK8	c.6201A>G	NM_203447.3	NP_982272.2:p.(Glu2067=)	NC_000009.11:g.463649A>G	(Likely) benign	2 labs	02a9a32038
12:40749917 LRRK2 C>A	12	40749917	40749917	C	A	LRRK2	c.6771C>A	NM_198578.3	NP_940980.3:p.(Ser2257Arg)	NC_000012.11:g.40749917C>A	(Likely) benign	2 labs	02afdb2c0d
17:8140790 CTC1 C>T	17	8140790	8140790	C	T	CTC1	c.695G>A	NM_025099.6	NP_079375.3:p.(Arg232Gln)	NC_000017.10:g.8140790C>T	(Likely) benign	3 labs	02b0606444
18:19321682 MIB1 G>A	18	19321682	19321682	G	A	MIB1	c.138G>A	NM_020774.4	NP_065825.1:p.(Glu46=)	NC_000018.9:g.19321682G>A	(Likely) benign	5 labs	df68c26cfb
2:179528049 TTN G>A	2	179528049	179528049	G	A	TTN	c.36644C>T	NM_001267550.1	NP_001254479.1:p.(Pro12215Leu)	NC_000002.11:g.179528049G>A	(Likely) benign	2 labs	02b86d0c20
18:19371418 MIB1 C>A	18	19371418	19371418	C	A	MIB1	c.992C>A	NM_020774.3	NP_065825.1:p.(Ser331Ter)	NC_000018.9:g.19371418C>A	VUS	2 labs	02bb2ddcc6
X:82764042 POU3F4 G>C	X	82764042	82764042	G	C	POU3F4	c.710=	NM_000307.5	NP_000298.3:p.(Ala237=)	NC_000023.10:g.82764042G>C	(Likely) benign	2 labs	02c703dea2
11:47364145 MYBPC3 A>T	11	47364145	47364145	A	T	MYBPC3	c.1608T>A	NM_000256.3	NP_000247.2:p.(Ala536=)	NC_000011.9:g.47364145A>T	(Likely) benign	5 labs	df6f6c92d6
10:88439104 LDB3 C>T	10	88439104	88439104	C	T	LDB3	c.94-20C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88439104C>T	(Likely) benign	2 labs	df70d72489
16:2153694 PKD1 C>T	16	2153694	2153694	C	T	PKD1	c.8364G>A	NM_001009944.2	NP_001009944.2:p.(Ser2788=)	NC_000016.9:g.2153694C>T	(Likely) benign	3 labs	02c7b420bf
20:31024274 ASXL1 T>C	20	31024274	31024274	T	C	ASXL1	c.3759T>C	NM_015338.6	NP_056153.2:p.(Ser1253=)	NC_000020.10:g.31024274T>C	(Likely) benign	3 labs	02cfb09c78
21:47847674 PCNT C>G	21	47847674	47847674	C	G	PCNT	c.7459C>G	NM_006031.5	NP_006022.3:p.(Leu2487Val)	NC_000021.8:g.47847674C>G	(Likely) benign	2 labs	02d0226fba
10:69959256 MYPN C>G	10	69959256	69959256	C	G	MYPN	c.3417C>G	NM_032578.3	NP_115967.2:p.(Arg1139=)	NC_000010.10:g.69959256C>G	(Likely) benign	2 labs	02d6f10e90
9:139399256 NOTCH1 G>A	9	139399256	139399256	G	A	NOTCH1	c.4887C>T	NM_017617.5	NP_060087.3:p.(His1629=)	NC_000009.11:g.139399256G>A	(Likely) benign	4 labs	02cd87aa35
15:67479844 SMAD3 A>G	15	67479844	67479844	A	G	SMAD3	c.1151A>G	NM_005902.3	NP_005893.1:p.(Tyr384Cys)	NC_000015.9:g.67479844A>G	VUS	2 labs	02da10f83b
19:13366032 CACNA1A G>A	19	13366032	13366032	G	A	CACNA1A	c.4644C>T	NM_023035.2	NP_075461.2:p.(Thr1548=)	NC_000019.9:g.13366032G>A	(Likely) benign	2 labs	02df22afaf
12:88505067 CEP290 A>G	12	88505067	88505067	A	G	CEP290	c.2279T>C	NM_025114.3	NP_079390.3:p.(Phe760Ser)	NC_000012.11:g.88505067A>G	VUS	2 labs	02f561934b
10:69966578 MYPN G>A	10	69966578	69966578	G	A	MYPN	c.2829G>A	NM_001256268.2	NP_001243197.1:p.(Lys943=)	NC_000010.10:g.69966578G>A	(Likely) benign	4 labs	02f7ffd14f
18:57147410 CCBE1 T>G	18	57147410	57147410	T	G	CCBE1	c.265+8A>C	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57147410T>G	(Likely) benign	2 labs	030336355d
8:145738639 RECQL4 C>T	8	145738639	145738639	C	T	RECQL4	c.2425G>A	NM_004260.4	NP_004251.4:p.(Gly809Arg)	NC_000008.10:g.145738639C>T	VUS	2 labs	0316f70f6b
11:117261854 CEP164 G>A	11	117261854	117261854	G	A	CEP164	c.2206G>A	NM_014956.4	NP_055771.4:p.(Glu736Lys)	NC_000011.9:g.117261854G>A	(Likely) benign	2 labs	0310a20227
16:69687335 NFAT5 T>C	16	69687335	69687335	T	C	NFAT5	c.723+4T>C	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69687335T>C	(Likely) benign	2 labs	0318a64348
X:109919491 CHRDL1 A>G	X	109919491	109919491	A	G	CHRDL1	c.1345T>C	NM_001143981.1	NP_001137453.1:p.(Tyr449His)	NC_000023.10:g.109919491A>G	(Likely) benign	2 labs	031cef1804
4:79366735 FRAS1 G>A	4	79366735	79366735	G	A	FRAS1	c.5725G>A	NM_025074.7	NP_079350.5:p.(Val1909Ile)	NC_000004.11:g.79366735G>A	(Likely) benign	2 labs	03205f1013
1:3761547 CEP104 C>A	1	3761547	3761547	C	A	CEP104	c.490G>T	NM_014704.3	NP_055519.1:p.(Ala164Ser)	NC_000001.10:g.3761547C>A	(Likely) benign	2 labs	03219f2990
11:47358942 MYBPC3 C>T	11	47358942	47358942	C	T	MYBPC3	c.2602G>A	NM_000256.3	NP_000247.2:p.(Gly868Ser)	NC_000011.9:g.47358942C>T	VUS	3 labs	df77e16000
10:100189636 HPS1 C>T	10	100189636	100189636	C	T	HPS1	c.779G>A	NM_001322477.1	NP_001309406.1:p.(Arg260Gln)	NC_000010.10:g.100189636C>T	(Likely) benign	3 labs	0329e17e99
2:69597128 GFPT1 G>A	2	69597128	69597128	G	A	GFPT1	c.223+5C>T	NM_001244710.1	NP_001231639.1:p.?	NC_000002.11:g.69597128G>A	(Likely) benign	2 labs	032a9a4e2a
5:140073883 HARS2 G>A	5	140073883	140073883	G	A	HARS2	c.399+18G>A	NM_012208.4	NP_036340.1:p.?	NC_000005.9:g.140073883G>A	(Likely) benign	2 labs	df788bac1b
2:207012392 NDUFS1 T>C	2	207012392	207012392	T	C	NDUFS1	c.421-7A>G	NM_005006.6	NP_004997.4:p.?	NC_000002.11:g.207012392T>C	(Likely) benign	2 labs	032d9511c8
14:77493647 IRF2BPL AGCGGCGGCG>A	14	77493647	77493676	AGCGGCGGCG	A	IRF2BPL	c.480_488del	NM_024496.4	NP_078772.1:p.(Ala162_Ala164del)	NC_000014.8:g.77493668_77493676del	(Likely) benign	3 labs	df7b359494
11:65298145 SCYL1 A>G	11	65298145	65298145	A	G	SCYL1	c.895A>G	NM_020680.3	NP_065731.3:p.(Lys299Glu)	NC_000011.9:g.65298145A>G	(Likely) benign	2 labs	0338bd8a04
19:36590329 WDR62 T>C	19	36590329	36590329	T	C	WDR62	c.2549T>C	NM_001083961.2	NP_001077430.1:p.(Leu850Ser)	NC_000019.9:g.36590329T>C	(Likely) benign	3 labs	033942b1cb
4:6296781 WFS1 C>T	4	6296781	6296781	C	T	WFS1	c.726C>T	NM_006005.3	NP_005996.2:p.(Ile242=)	NC_000004.11:g.6296781C>T	(Likely) benign	2 labs	033a4fc917
1:237774112 RYR2 C>T	1	237774112	237774112	C	T	RYR2	c.4734C>T	NM_001035.2	NP_001026.2:p.(Pro1578=)	NC_000001.10:g.237774112C>T	(Likely) benign	2 labs	033d797bd7
17:73494391 TMEM94 G>T	17	73494391	73494391	G	T	TMEM94	c.3625G>T	NM_014738.5	NP_055553.3:p.(Val1209Phe)	NC_000017.10:g.73494391G>T	(Likely) benign	2 labs	034ceadd4d
19:42880565 MEGF8 C>T	19	42880565	42880565	C	T	MEGF8	c.8176C>T	NM_001271938.2	NP_001258867.1:p.(Arg2726Cys)	NC_000019.9:g.42880565C>T	(Likely) benign	2 labs	035112ab0c
17:78085800 GAA T>C	17	78085800	78085800	T	C	GAA	c.1655T>C	NM_000152.3	NP_000143.2:p.(Leu552Pro)	NC_000017.10:g.78085800T>C	(Likely) pathogenic	2 labs	0355fa471f
9:138594134 KCNT1 G>A	9	138594134	138594134	G	A	KCNT1	c.30G>A	NM_020822.3	NP_065873.2:p.(Pro10=)	NC_000009.11:g.138594134G>A	(Likely) benign	3 labs	df819ce9d9
10:123260370 FGFR2 C>T	10	123260370	123260370	C	T	FGFR2	c.1531G>A	NM_000141.5	NP_000132.3:p.(Ala511Thr)	NC_000010.10:g.123260370C>T	(Likely) benign	3 labs	036403e889
17:41244899 BRCA1 TGCA>T	17	41244899	41244902	TGCA	T	BRCA1	c.2646_2648del	NM_007294.4	NP_009225.1:p.(Cys882Ter)	NC_000017.10:g.41244900_41244902del	(Likely) pathogenic	3 labs	0367150e7f
10:73405600 CDH23 A>T	10	73405600	73405600	A	T	CDH23	c.1153A>T	NM_022124.5	NP_071407.4:p.(Met385Leu)	NC_000010.10:g.73405600A>T	VUS	2 labs	036a06418d
X:149671778 MAMLD1 G>A	X	149671778	149671778	G	A	MAMLD1	c.2275G>A	NM_005491.4	NP_005482.2:p.(Asp759Asn)	NC_000023.10:g.149671778G>A	(Likely) benign	2 labs	036a09d63c
17:63221342 RGS9 G>A	17	63221342	63221342	G	A	RGS9	c.1630G>A	NM_003835.4	NP_003826.2:p.(Gly544Arg)	NC_000017.10:g.63221342G>A	(Likely) benign	2 labs	036b79bbb1
17:48638898 CACNA1G G>A	17	48638898	48638898	G	A	CACNA1G	c.78G>A	NM_198377.3	NP_938191.2:p.(Ser26=)	NC_000017.10:g.48638898G>A	(Likely) benign	2 labs	036bfca896
5:80024719 MSH3 C>T	5	80024719	80024719	C	T	MSH3	c.1503C>T	NM_002439.4	NP_002430.3:p.(Cys501=)	NC_000005.9:g.80024719C>T	(Likely) benign	2 labs	037dc80b8e
13:32913562 BRCA2 A>C	13	32913562	32913562	A	C	BRCA2	c.5070A>C	NM_000059.4	NP_000050.3:p.(Lys1690Asn)	NC_000013.10:g.32913562A>C	(Likely) benign	5 labs	03793d0fa8
6:152652890 SYNE1 G>A	6	152652890	152652890	G	A	SYNE1	c.12930C>T	NM_182961.3	NP_892006.3:p.(Asp4310=)	NC_000006.11:g.152652890G>A	(Likely) benign	2 labs	03813ea7eb
16:51174255 SALL1 C>G	16	51174255	51174255	C	G	SALL1	c.1878G>C	NM_002968.2	NP_002959.2:p.(Glu626Asp)	NC_000016.9:g.51174255C>G	(Likely) benign	2 labs	0388fdeaa2
1:92944314 GFI1 CAGAGAGAG>C	1	92944314	92944351	CAGAGAGAG	C	GFI1	c.925-12_925-5del	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944344_92944351del	(Likely) benign	2 labs	dfa7703fd2
5:178408668 GRM6 G>T	5	178408668	178408668	G	T	GRM6	c.2624C>A	NM_000843.4	NP_000834.2:p.(Ala875Asp)	NC_000005.9:g.178408668G>T	(Likely) benign	2 labs	039106af99
14:51225272 NIN T>C	14	51225272	51225272	T	C	NIN	c.2476A>G	NM_020921.3	NP_065972.3:p.(Thr826Ala)	NC_000014.8:g.51225272T>C	(Likely) benign	2 labs	0394240f65
19:45871988 ERCC2 A>G	19	45871988	45871988	A	G	ERCC2	c.260T>C	NM_000400.4	NP_000391.1:p.(Leu87Pro)	NC_000019.9:g.45871988A>G	VUS	3 labs	039cecf789
13:115089834 CHAMP1 TCTC>T	13	115089834	115089839	TCTC	T	CHAMP1	c.520_522del	NM_001164144.3	NP_001157616.1:p.(Pro174del)	NC_000013.10:g.115089837_115089839del	(Likely) benign	2 labs	dfaa9eefa9
16:28500611 CLN3 A>G	16	28500611	28500611	A	G	CLN3	c.222T>C	NM_001042432.2	NP_001035897.1:p.(His74=)	NC_000016.9:g.28500611A>G	(Likely) benign	3 labs	0397942cf1
X:48458931 WDR13 C>T	X	48458931	48458931	C	T	WDR13	c.472C>T	NM_001166426.3	NP_001159898.1:p.(Arg158Cys)	NC_000023.10:g.48458931C>T	VUS	2 labs	dfaaba9255
1:237872858 RYR2 G>A	1	237872858	237872858	G	A	RYR2	c.10221G>A	NM_001035.3	NP_001026.2:p.(Ser3407=)	NC_000001.10:g.237872858G>A	(Likely) benign	4 labs	dfacdb8c38
14:59014522 KIAA0586 G>A	14	59014522	59014522	G	A	KIAA0586	c.4519G>A	NM_001329943.2	NP_001316872.1:p.(Ala1507Thr)	NC_000014.8:g.59014522G>A	(Likely) benign	2 labs	03a87ccdf7
7:27239217 HOXA13 C>T	7	27239217	27239217	C	T	HOXA13	c.480G>A	NM_000522.5	NP_000513.2:p.(Ala160=)	NC_000007.13:g.27239217C>T	(Likely) benign	2 labs	03acfcc085
6:129828752 LAMA2 G>A	6	129828752	129828752	G	A	LAMA2	c.8822G>A	NM_000426.4	NP_000417.3:p.(Gly2941Glu)	NC_000006.11:g.129828752G>A	VUS	2 labs	03acfe6791
2:189858802 COL3A1 C>T	2	189858802	189858802	C	T	COL3A1	c.1188C>T	NM_000090.3	NP_000081.1:p.(Gly396=)	NC_000002.11:g.189858802C>T	(Likely) benign	2 labs	03ad8d6250
11:103126846 DYNC2H1 A>T	11	103126846	103126846	A	T	DYNC2H1	c.10359A>T	NM_001080463.1	NP_001073932.1:p.(Thr3453=)	NC_000011.9:g.103126846A>T	(Likely) benign	2 labs	03ae113594
9:6589285 GLDC ACCAGTT>A	9	6589285	6589293	ACCAGTT	A	GLDC	c.1484_1489del	NM_000170.3	NP_000161.2:p.(Glu495_Leu496del)	NC_000009.11:g.6589288_6589293del	VUS	2 labs	03b0929b4c
20:2398064 TGM6 G>A	20	2398064	2398064	G	A	TGM6	c.1523G>A	NM_198994.2	NP_945345.2:p.(Gly508Asp)	NC_000020.10:g.2398064G>A	(Likely) benign	2 labs	03b5d6e671
1:247587771 NLRP3 C>T	1	247587771	247587771	C	T	NLRP3	c.1020C>T	NM_001243133.1	NP_001230062.1:p.(Pro340=)	NC_000001.10:g.247587771C>T	(Likely) benign	3 labs	03b62bb432
1:22166460 HSPG2 C>G	1	22166460	22166460	C	G	HSPG2	c.9567G>C	NM_001291860.1	NP_001278789.1:p.(Gln3189His)	NC_000001.10:g.22166460C>G	VUS	2 labs	03baa96313
5:14681653 OTULIN G>C	5	14681653	14681653	G	C	OTULIN	c.405G>C	NM_138348.5	NP_612357.4:p.(Leu135=)	NC_000005.9:g.14681653G>C	(Likely) benign	2 labs	03bbbd1b75
7:117267633 CFTR AC>A	7	117267633	117267635	AC	A	CFTR	c.3528del	NM_000492.4	NP_000483.3:p.(Lys1177SerfsTer15)	NC_000007.13:g.117267635del	(Likely) pathogenic	2 labs	03c376d7b6
10:75864942 VCL T>C	10	75864942	75864942	T	C	VCL	c.2265T>C	NM_014000.3	NP_054706.1:p.(Ser755=)	NC_000010.10:g.75864942T>C	(Likely) benign	3 labs	dfadf7c68e
16:67680805 CARMIL2 C>T	16	67680805	67680805	C	T	CARMIL2	c.540C>T	NM_001013838.2	NP_001013860.1:p.(Asp180=)	NC_000016.9:g.67680805C>T	(Likely) benign	2 labs	03c43185c2
11:108123578 ATM G>T	11	108123578	108123578	G	T	ATM	c.1837G>T	NM_000051.4	NP_000042.3:p.(Val613Leu)	NC_000011.9:g.108123578G>T	VUS	5 labs	dfaf8ae835
16:49671919 ZNF423 A>G	16	49671919	49671919	A	G	ZNF423	c.964T>C	NM_001271620.2	NP_001258549.1:p.(Ser322Pro)	NC_000016.9:g.49671919A>G	VUS	2 labs	03cd766c11
17:29541542 NF1 A>G	17	29541542	29541542	A	G	NF1	c.1466A>G	NM_000267.3	NP_000258.1:p.(Tyr489Cys)	NC_000017.10:g.29541542A>G	(Likely) pathogenic	2 labs	03cd9e77c3
17:41199708 BRCA1 T>A	17	41199708	41199708	T	A	BRCA1	c.5419A>T	NM_007294.4	NP_009225.1:p.(Ile1807Phe)	NC_000017.10:g.41199708T>A	VUS	2 labs	dfba3697a1
16:87960407 CA5A C>G	16	87960407	87960407	C	G	CA5A	c.287G>C	NM_001739.2	NP_001730.1:p.(Trp96Ser)	NC_000016.9:g.87960407C>G	VUS	2 labs	03dac0230a
7:117149177 CFTR G>A	7	117149177	117149177	G	A	CFTR	c.254G>A	NM_000492.4	NP_000483.3:p.(Gly85Glu)	NC_000007.13:g.117149177G>A	(Likely) pathogenic	3 labs	03e033fc3e
19:3771696 RAX2 A>C	19	3771696	3771696	A	C	RAX2	c.45T>G	NM_001319074.4	NP_001306003.2:p.(Gly15=)	NC_000019.9:g.3771696A>C	(Likely) benign	2 labs	03df46e704
4:1803704 FGFR3 T>C	4	1803704	1803704	T	C	FGFR3	c.882T>C	NM_001163213.2	NP_001156685.1:p.(Asn294=)	NC_000004.11:g.1803704T>C	(Likely) benign	4 labs	dfbb579e59
5:178634619 ADAMTS2 C>T	5	178634619	178634619	C	T	ADAMTS2	c.786G>A	NM_014244.5	NP_055059.2:p.(Ala262=)	NC_000005.9:g.178634619C>T	(Likely) benign	2 labs	dfc17e1a7b
X:135106646 SLC9A6 A>G	X	135106646	135106646	A	G	SLC9A6	c.1616+4A>G	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135106646A>G	(Likely) benign	2 labs	03ea887c14
15:64067253 HERC1 G>A	15	64067253	64067253	G	A	HERC1	c.570C>T	NM_003922.3	NP_003913.3:p.(Asn190=)	NC_000015.9:g.64067253G>A	(Likely) benign	2 labs	03ed04ccac
8:100866441 VPS13B C>T	8	100866441	100866441	C	T	VPS13B	c.10899C>T	NM_017890.5	NP_060360.3:p.(His3633=)	NC_000008.10:g.100866441C>T	(Likely) benign	2 labs	03e8d67269
11:47354384 MYBPC3 G>A	11	47354384	47354384	G	A	MYBPC3	c.3471C>T	NM_000256.3	NP_000247.2:p.(Pro1157=)	NC_000011.9:g.47354384G>A	(Likely) benign	2 labs	03f10c764b
X:153590897 FLNA G>A	X	153590897	153590897	G	A	FLNA	c.2454C>T	NM_001110556.2	NP_001104026.1:p.(Ala818=)	NC_000023.10:g.153590897G>A	(Likely) benign	2 labs	03f07baf2c
X:6451869 VCX3A C>T	X	6451869	6451869	C	T	VCX3A	c.478G>A	NM_016379.3	NP_057463.2:p.(Val160Met)	NC_000023.10:g.6451869C>T	(Likely) benign	2 labs	03f5dda13e
1:207513869 CD55 C>T	1	207513869	207513869	C	T	CD55	c.1215C>T	NM_001300902.1	NP_001287831.1:p.(His405=)	NC_000001.10:g.207513869C>T	(Likely) benign	2 labs	03fb0d84af
2:179642612 TTN G>GGACATCCGTGCAGGA	2	179642612	179642634	G	GGACATCCGTGCAGGA	TTN	c.4284_4298dup	NM_001267550.2	NP_001254479.2:p.(Ala1435_Pro1439dup)	NC_000002.11:g.179642620_179642634dup	VUS	2 labs	03fecf0166
13:32953529 BRCA2 A>T	13	32953529	32953529	A	T	BRCA2	c.8830A>T	NM_000059.4	NP_000050.3:p.(Ile2944Phe)	NC_000013.10:g.32953529A>T	(Likely) benign	7 labs	04056a3ab9
12:48373317 COL2A1 G>A	12	48373317	48373317	G	A	COL2A1	c.2710C>T	NM_001844.4	NP_001835.3:p.(Arg904Cys)	NC_000012.11:g.48373317G>A	(Likely) pathogenic	2 labs	040f482109
6:135748451 AHI1 T>C	6	135748451	135748451	T	C	AHI1	c.2624-6A>G	NM_001134831.1	NP_001128303.1:p.?	NC_000006.11:g.135748451T>C	(Likely) benign	3 labs	041b98e914
21:46326996 ITGB2 C>T	21	46326996	46326996	C	T	ITGB2	c.162G>A	NM_000211.3	NP_000202.2:p.(Pro54=)	NC_000021.8:g.46326996C>T	(Likely) benign	2 labs	041c6953a2
19:33353061 SLC7A9 G>T	19	33353061	33353061	G	T	SLC7A9	c.667C>A	NM_001243036.2	NP_001229965.1:p.(Leu223Met)	NC_000019.9:g.33353061G>T	(Likely) benign	2 labs	dfd25eaf29
10:50732137 ERCC6 G>A	10	50732137	50732137	G	A	ERCC6	c.1339C>T	NM_000124.4	NP_000115.1:p.(Arg447Trp)	NC_000010.10:g.50732137G>A	VUS	2 labs	04426121d0
X:138884483 ATP11C G>A	X	138884483	138884483	G	A	ATP11C	c.580C>T	NM_173694.4	NP_775965.2:p.(Arg194Cys)	NC_000023.10:g.138884483G>A	(Likely) benign	2 labs	043c4aa80f
7:4824622 AP5Z1 C>T	7	4824622	4824622	C	T	AP5Z1	c.874C>T	NM_014855.3	NP_055670.1:p.(Arg292Trp)	NC_000007.13:g.4824622C>T	VUS	2 labs	043d4b82a0
17:29497010 NF1 T>C	17	29497010	29497010	T	C	NF1	c.581T>C	NM_000267.3	NP_000258.1:p.(Leu194Pro)	NC_000017.10:g.29497010T>C	(Likely) pathogenic	2 labs	0442a8472f
10:123353213 FGFR2 A>C	10	123353213	123353213	A	C	FGFR2	c.109+10T>G	NM_022970.3	NP_075259.4:p.?	NC_000010.10:g.123353213A>C	(Likely) benign	2 labs	044a2285dd
4:79229275 FRAS1 C>T	4	79229275	79229275	C	T	FRAS1	c.1590C>T	NM_025074.7	NP_079350.5:p.(Ala530=)	NC_000004.11:g.79229275C>T	(Likely) benign	2 labs	044bac66da
11:61165269 TMEM216 C>A	11	61165269	61165269	C	A	TMEM216	c.253C>A	NM_001173990.3	NP_001167461.1:p.(Arg85=)	NC_000011.9:g.61165269C>A	(Likely) benign	2 labs	0444c7891a
19:55663229 TNNI3 C>T	19	55663229	55663229	C	T	TNNI3	c.606G>A	NM_000363.5	NP_000354.4:p.(Glu202=)	NC_000019.9:g.55663229C>T	(Likely) benign	4 labs	dfd777fe58
12:111351117 MYL2 C>T	12	111351117	111351117	C	T	MYL2	c.286G>A	NM_000432.3	NP_000423.2:p.(Glu96Lys)	NC_000012.11:g.111351117C>T	(Likely) pathogenic	2 labs	0456f51d00
8:48719844 PRKDC G>A	8	48719844	48719844	G	A	PRKDC	c.9601C>T	NM_006904.6	NP_008835.5:p.(Pro3201Ser)	NC_000008.10:g.48719844G>A	(Likely) benign	3 labs	045ac383a0
3:49137803 QARS1 C>G	3	49137803	49137803	C	G	QARS1	c.1055+10G>C	NM_005051.2	NP_005042.1:p.?	NC_000003.11:g.49137803C>G	(Likely) benign	2 labs	046140b911
3:128200806 GATA2 G>A	3	128200806	128200806	G	A	GATA2	c.1018-19C>T	NM_001145661.1	NP_001139133.1:p.?	NC_000003.11:g.128200806G>A	(Likely) benign	3 labs	0463a2587a
21:47836403 PCNT T>C	21	47836403	47836403	T	C	PCNT	c.6571T>C	NM_006031.5	NP_006022.3:p.(Ser2191Pro)	NC_000021.8:g.47836403T>C	(Likely) benign	2 labs	046bb30f26
19:1621904 TCF3 G>A	19	1621904	1621904	G	A	TCF3	c.888C>T	NM_003200.5	NP_003191.1:p.(Ala296=)	NC_000019.9:g.1621904G>A	(Likely) benign	2 labs	046e585055
3:114099201 ZBTB20 A>C	3	114099201	114099201	A	C	ZBTB20	c.62T>G	NM_001164342.2	NP_001157814.1:p.(Ile21Ser)	NC_000003.11:g.114099201A>C	VUS	2 labs	dfdf4c806e
X:152037625 NSDHL G>A	X	152037625	152037625	G	A	NSDHL	c.1087G>A	NM_015922.3	NP_057006.1:p.(Val363Met)	NC_000023.10:g.152037625G>A	(Likely) benign	2 labs	0473c544e8
3:4508715 SUMF1 C>A	3	4508715	4508715	C	A	SUMF1	c.215G>T	NM_182760.3	NP_877437.2:p.(Arg72Leu)	NC_000003.11:g.4508715C>A	VUS	2 labs	0476366c51
6:152751839 SYNE1 T>G	6	152751839	152751839	T	G	SYNE1	c.4467A>C	NM_182961.4	NP_892006.3:p.(Thr1489=)	NC_000006.11:g.152751839T>G	(Likely) benign	2 labs	047cf9dd42
X:152815684 ATP2B3 G>A	X	152815684	152815684	G	A	ATP2B3	c.1763G>A	NM_021949.3	NP_068768.2:p.(Arg588His)	NC_000023.10:g.152815684G>A	(Likely) benign	2 labs	047687dfc8
16:89842220 FANCA T>C	16	89842220	89842220	T	C	FANCA	c.1830A>G	NM_000135.4	NP_000126.2:p.(Ala610=)	NC_000016.9:g.89842220T>C	(Likely) benign	2 labs	04788ac3d1
12:2602405 CACNA1C C>T	12	2602405	2602405	C	T	CACNA1C	c.966C>T	NM_199460.4	NP_955630.3:p.(His322=)	NC_000012.11:g.2602405C>T	(Likely) benign	2 labs	047d343bc6
11:111724146 ALG9 A>G	11	111724146	111724146	A	G	ALG9	c.852T>C	NM_024740.2	NP_079016.2:p.(Ile284=)	NC_000011.9:g.111724146A>G	(Likely) benign	2 labs	048ea729eb
21:46895394 COL18A1 C>T	21	46895394	46895394	C	T	COL18A1	c.743C>T	NM_001379500.1	NP_001366429.1:p.(Ser248Phe)	NC_000021.8:g.46895394C>T	VUS	2 labs	048fff54a7
4:151835502 LRBA GA>G	4	151835502	151835513	GA	G	LRBA	c.1015-10del	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151835513del	(Likely) benign	3 labs	048f652753
11:117869691 IL10RA G>A	11	117869691	117869691	G	A	IL10RA	c.1072G>A	NM_001558.4	NP_001549.2:p.(Asp358Asn)	NC_000011.9:g.117869691G>A	(Likely) benign	3 labs	04955de5e2
7:107312625 SLC26A4 G>A	7	107312625	107312625	G	A	SLC26A4	c.347G>A	NM_000441.1	NP_000432.1:p.(Gly116Asp)	NC_000007.13:g.107312625G>A	VUS	2 labs	0496f8ac58
2:27587447 EIF2B4 T>C	2	27587447	27587447	T	C	EIF2B4	c.1347A>G	NM_001318966.2	NP_001305895.1:p.(Gln449=)	NC_000002.11:g.27587447T>C	(Likely) benign	3 labs	0491b4c2eb
19:13409696 CACNA1A C>G	19	13409696	13409696	C	G	CACNA1A	c.2763G>C	NM_023035.3	NP_075461.2:p.(Glu921Asp)	NC_000019.9:g.13409696C>G	(Likely) benign	3 labs	04980cbe84
2:109384749 RANBP2 T>C	2	109384749	109384749	T	C	RANBP2	c.7754T>C	NM_006267.4	NP_006258.3:p.(Ile2585Thr)	NC_000002.11:g.109384749T>C	(Likely) benign	3 labs	049a2e48b8
1:216462627 USH2A C>T	1	216462627	216462627	C	T	USH2A	c.1966G>A	NM_206933.2	NP_996816.2:p.(Asp656Asn)	NC_000001.10:g.216462627C>T	VUS	2 labs	04a05e0ef4
2:202582895 ALS2 A>C	2	202582895	202582895	A	C	ALS2	c.3741T>G	NM_020919.4	NP_065970.2:p.(Gly1247=)	NC_000002.11:g.202582895A>C	(Likely) benign	3 labs	049ecd8aac
16:84203460 DNAAF1 A>T	16	84203460	84203460	A	T	DNAAF1	c.1031-5A>T	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84203460A>T	(Likely) benign	2 labs	04aae0f512
19:36595665 WDR62 T>G	19	36595665	36595665	T	G	WDR62	c.4312-5T>G	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36595665T>G	VUS	2 labs	04aac6c710
2:84676859 SUCLG1 G>A	2	84676859	84676859	G	A	SUCLG1	c.115C>T	NM_003849.3	NP_003840.2:p.(Arg39Trp)	NC_000002.11:g.84676859G>A	VUS	2 labs	04afc38da0
15:89876827 POLGARF TTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGC	T	POLGARF	c.205_213del	NM_001430120.1	NP_001417049.1:p.(Ala69_Ala71del)	NC_000015.9:g.89876852_89876860del	(Likely) benign	3 labs	04b2d38dae
20:33581222 MYH7B G>A	20	33581222	33581222	G	A	MYH7B	c.2519G>A	NM_020884.4	NP_065935.3:p.(Arg840Gln)	NC_000020.10:g.33581222G>A	VUS	2 labs	04b94cbd81
2:96958829 SNRNP200 G>A	2	96958829	96958829	G	A	SNRNP200	c.2041C>T	NM_014014.4	NP_054733.2:p.(Arg681Cys)	NC_000002.11:g.96958829G>A	(Likely) pathogenic	2 labs	04bc64d80a
2:179598170 TTN C>T	2	179598170	179598170	C	T	TTN	c.15850G>A	NM_001267550.2	NP_001254479.2:p.(Val5284Met)	NC_000002.11:g.179598170C>T	(Likely) benign	5 labs	04b87e0f16
17:40489879 STAT3 C>T	17	40489879	40489879	C	T	STAT3	c.551-4G>A	NM_139276.2	NP_644805.1:p.?	NC_000017.10:g.40489879C>T	(Likely) benign	2 labs	04bdc0a365
10:17085909 CUBN C>T	10	17085909	17085909	C	T	CUBN	c.3746G>A	NM_001081.3	NP_001072.2:p.(Arg1249His)	NC_000010.10:g.17085909C>T	(Likely) benign	2 labs	04c05ab0c8
14:23855569 MYH6 A>G	14	23855569	23855569	A	G	MYH6	c.4914T>C	NM_002471.4	NP_002462.2:p.(Ala1638=)	NC_000014.8:g.23855569A>G	(Likely) benign	4 labs	04cfd87463
1:152282708 FLG C>A	1	152282708	152282708	C	A	FLG	c.4654G>T	NM_002016.2	NP_002007.1:p.(Asp1552Tyr)	NC_000001.10:g.152282708C>A	VUS	2 labs	04db214f57
3:182812352 MCCC1 G>A	3	182812352	182812352	G	A	MCCC1	c.131C>T	NM_020166.5	NP_064551.3:p.(Ala44Val)	NC_000003.11:g.182812352G>A	VUS	2 labs	e000d0a644
3:64644301 ADAMTS9 G>A	3	64644301	64644301	G	A	ADAMTS9	c.846C>T	NM_182920.2	NP_891550.1:p.(His282=)	NC_000003.11:g.64644301G>A	(Likely) benign	2 labs	04dbf7e441
16:2120571 TSC2 C>T	16	2120571	2120571	C	T	TSC2	c.1831C>T	NM_000548.5	NP_000539.2:p.(Arg611Trp)	NC_000016.9:g.2120571C>T	(Likely) pathogenic	2 labs	04e517ac4a
5:127693094 FBN2 T>C	5	127693094	127693094	T	C	FBN2	c.2555-7A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127693094T>C	(Likely) benign	3 labs	04e6b1487d
17:78179008 CARD14 T>C	17	78179008	78179008	T	C	CARD14	c.2569+4T>C	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78179008T>C	(Likely) benign	3 labs	04fcd68289
5:174156168 MSX2 T>C	5	174156168	174156168	T	C	MSX2	c.386T>C	NM_002449.5	NP_002440.2:p.(Met129Thr)	NC_000005.9:g.174156168T>C	(Likely) benign	2 labs	04ffaa3c88
11:22296275 ANO5 G>A	11	22296275	22296275	G	A	ANO5	c.2396G>A	NM_213599.2	NP_998764.1:p.(Arg799Gln)	NC_000011.9:g.22296275G>A	(Likely) benign	2 labs	05026634bc
8:87588042 CNGB3 G>C	8	87588042	87588042	G	C	CNGB3	c.2420C>G	NM_019098.5	NP_061971.3:p.(Ala807Gly)	NC_000008.10:g.87588042G>C	(Likely) benign	3 labs	0512fa3601
11:121367627 SORL1 G>A	11	121367627	121367627	G	A	SORL1	c.808G>A	NM_003105.6	NP_003096.2:p.(Glu270Lys)	NC_000011.9:g.121367627G>A	(Likely) benign	2 labs	051f11e1f5
1:213068542 FLVCR1 C>CTGAT	1	213068542	213068548	C	CTGAT	FLVCR1	c.1594-13_1594-10dup	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213068545_213068548dup	(Likely) benign	3 labs	052194af08
2:179481862 TTN C>T	2	179481862	179481862	C	T	TTN	c.47860G>A	NM_001267550.1	NP_001254479.1:p.(Ala15954Thr)	NC_000002.11:g.179481862C>T	VUS	2 labs	0528bd42ca
X:153296692 MECP2 G>C	X	153296692	153296692	G	C	MECP2	c.587C>G	NM_004992.4	NP_004983.1:p.(Thr196Ser)	NC_000023.10:g.153296692G>C	(Likely) benign	4 labs	05350e2135
7:21599223 DNAH11 C>T	7	21599223	21599223	C	T	DNAH11				NC_000007.13:g.21599223C>T	(Likely) benign	2 labs	053408dd34
6:65336089 EYS A>G	6	65336089	65336089	A	G	EYS	c.3493T>C	NM_001292009.1	NP_001278938.1:p.(Cys1165Arg)	NC_000006.11:g.65336089A>G	VUS	2 labs	0535bb1b51
12:110734406 ATP2A2 A>G	12	110734406	110734406	A	G	ATP2A2	c.327A>G	NM_170665.4	NP_733765.1:p.(Glu109=)	NC_000012.11:g.110734406A>G	(Likely) benign	3 labs	e01fd7a5e0
6:65098614 EYS C>T	6	65098614	65098614	C	T	EYS	c.6047G>A	NM_001292009.2	NP_001278938.1:p.(Gly2016Asp)	NC_000006.11:g.65098614C>T	VUS	2 labs	055c9fbe4e
12:110023890 MVK C>T	12	110023890	110023890	C	T	MVK	c.591C>T	NM_000431.2	NP_000422.1:p.(His197=)	NC_000012.11:g.110023890C>T	(Likely) benign	2 labs	05610644d8
5:147494065 SPINK5 A>G	5	147494065	147494065	A	G	SPINK5	c.2015+13A>G	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147494065A>G	(Likely) benign	2 labs	e02e210892
1:197297757 CRB1 G>C	1	197297757	197297757	G	C	CRB1	c.69G>C	NM_001257965.1	NP_001244894.1:p.(Arg23Ser)	NC_000001.10:g.197297757G>C	(Likely) benign	2 labs	05792d9da3
15:43900060 STRC C>T	15	43900060	43900060	C	T	STRC	c.3794+1G>A	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43900060C>T	(Likely) pathogenic	2 labs	057e9ca980
10:12111090 DHTKD1 T>C	10	12111090	12111090	T	C	DHTKD1	c.58T>C	NM_018706.7	NP_061176.4:p.(Phe20Leu)	NC_000010.10:g.12111090T>C	(Likely) benign	2 labs	e0343af8c7
10:89501112 PAPSS2 A>G	10	89501112	89501112	A	G	PAPSS2	c.1207A>G	NM_001015880.2	NP_001015880.1:p.(Lys403Glu)	NC_000010.10:g.89501112A>G	VUS	2 labs	e035cde95a
1:196694253 CFH A>G	1	196694253	196694253	A	G	CFH	c.1699A>G	NM_000186.3	NP_000177.2:p.(Arg567Gly)	NC_000001.10:g.196694253A>G	VUS	2 labs	058a61f336
19:45871964 ERCC2 T>C	19	45871964	45871964	T	C	ERCC2	c.284A>G	NM_000400.4	NP_000391.1:p.(Glu95Gly)	NC_000019.9:g.45871964T>C	(Likely) benign	3 labs	05825c9f7f
5:127700294 FBN2 A>T	5	127700294	127700294	A	T	FBN2	c.2427T>A	NM_001999.4	NP_001990.2:p.(Ile809=)	NC_000005.9:g.127700294A>T	(Likely) benign	4 labs	0585dc8e14
17:39923691 JUP C>A	17	39923691	39923691	C	A	JUP	c.849G>T	NM_002230.4	NP_002221.1:p.(Lys283Asn)	NC_000017.10:g.39923691C>A	VUS	2 labs	058e901080
X:117805094 DOCK11 C>T	X	117805094	117805094	C	T	DOCK11	c.5185C>T	NM_144658.3	NP_653259.3:p.(Arg1729Cys)	NC_000023.10:g.117805094C>T	(Likely) benign	2 labs	058f292166
15:96877841 NR2F2 G>A	15	96877841	96877841	G	A	NR2F2	c.970+9G>A	NM_021005.4	NP_066285.1:p.?	NC_000015.9:g.96877841G>A	(Likely) benign	2 labs	05913ecbd1
8:10465748 RP1L1 T>C	8	10465748	10465748	T	C	RP1L1	c.5860A>G	NM_178857.6	NP_849188.4:p.(Thr1954Ala)	NC_000008.10:g.10465748T>C	(Likely) benign	3 labs	059890c784
4:126373545 FAT4 C>T	4	126373545	126373545	C	T	FAT4	c.11380C>T	NM_001291303.1	NP_001278232.1:p.(Arg3794Trp)	NC_000004.11:g.126373545C>T	VUS	2 labs	0595420a50
16:57778396 KATNB1 C>T	16	57778396	57778396	C	T	KATNB1	c.262C>T	NM_005886.2	NP_005877.2:p.(Arg88Cys)	NC_000016.9:g.57778396C>T	VUS	2 labs	05a240a226
14:23896866 MYH7 C>T	14	23896866	23896866	C	T	MYH7	c.1816G>A	NM_000257.4	NP_000248.2:p.(Val606Met)	NC_000014.8:g.23896866C>T	(Likely) pathogenic	5 labs	e042fa244a
16:15812241 MYH11 C>G	16	15812241	15812241	C	G	MYH11	c.5247G>C	NM_001040113.1	NP_001035202.1:p.(Glu1749Asp)	NC_000016.9:g.15812241C>G	(Likely) benign	3 labs	05ab8d045b
7:124493124 POT1 T>A	7	124493124	124493124	T	A	POT1	c.771A>T	NM_015450.2	NP_056265.2:p.(Thr257=)	NC_000007.13:g.124493124T>A	(Likely) benign	2 labs	05acf71d49
4:79176453 FRAS1 G>A	4	79176453	79176453	G	A	FRAS1	c.527G>A	NM_025074.7	NP_079350.5:p.(Arg176Gln)	NC_000004.11:g.79176453G>A	(Likely) benign	4 labs	05b744662f
3:4725445 ITPR1 A>G	3	4725445	4725445	A	G	ITPR1	c.3416A>G	NM_001168272.1	NP_001161744.1:p.(Asp1139Gly)	NC_000003.11:g.4725445A>G	(Likely) benign	3 labs	05b65f5123
7:147092805 CNTNAP2 G>A	7	147092805	147092805	G	A	CNTNAP2	c.1603G>A	NM_014141.5	NP_054860.1:p.(Glu535Lys)	NC_000007.13:g.147092805G>A	(Likely) benign	2 labs	05ba9048f2
2:179592033 TTN G>C	2	179592033	179592033	G	C	TTN	c.20059C>G	NM_001267550.2	NP_001254479.2:p.(Leu6687Val)	NC_000002.11:g.179592033G>C	VUS	5 labs	05c5a03b6b
12:122247951 SETD1B C>T	12	122247951	122247951	C	T	SETD1B	c.1100C>T	NM_001353345.2	NP_001340274.1:p.(Pro367Leu)	NC_000012.11:g.122247951C>T	(Likely) benign	3 labs	e0467c4480
X:73959970 NEXMIF C>T	X	73959970	73959970	C	T	NEXMIF	c.4422G>A	NM_001008537.2	NP_001008537.1:p.(Lys1474=)	NC_000023.10:g.73959970C>T	(Likely) benign	2 labs	05c56d76e5
11:17577335 OTOG G>A	11	17577335	17577335	G	A	OTOG	c.586G>A	NM_001277269.1	NP_001264198.1:p.(Asp196Asn)	NC_000011.9:g.17577335G>A	VUS	2 labs	05c752e053
8:72184069 EYA1 C>T	8	72184069	72184069	C	T	EYA1	c.890G>A	NM_000503.5	NP_000494.2:p.(Arg297Gln)	NC_000008.10:g.72184069C>T	(Likely) benign	2 labs	05c8667e1d
3:38598694 SCN5A G>A	3	38598694	38598694	G	A	SCN5A	c.4299+28C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38598694G>A	(Likely) benign	3 labs	05cc7ae60b
17:73727943 ITGB4 C>T	17	73727943	73727943	C	T	ITGB4	c.1266C>T	NM_000213.4	NP_000204.3:p.(His422=)	NC_000017.10:g.73727943C>T	(Likely) benign	2 labs	05d60e8527
12:21329738 SLCO1B1 A>G	12	21329738	21329738	A	G	SLCO1B1	c.388A>G	NM_006446.5	NP_006437.3:p.(Asn130Asp)	NC_000012.11:g.21329738A>G	(Likely) benign	3 labs	e04d85726c
13:32913077 BRCA2 G>A	13	32913077	32913077	G	A	BRCA2	c.4585G>A	NM_000059.4	NP_000050.3:p.(Gly1529Arg)	NC_000013.10:g.32913077G>A	(Likely) benign	6 labs	05de87a7e1
12:49435116 KMT2D G>A	12	49435116	49435116	G	A	KMT2D	c.6437C>T	NM_003482.4	NP_003473.3:p.(Pro2146Leu)	NC_000012.11:g.49435116G>A	(Likely) benign	3 labs	05f069b9cc
12:124189109 TCTN2 C>T	12	124189109	124189109	C	T	TCTN2	c.1643C>T	NM_024809.4	NP_079085.2:p.(Pro548Leu)	NC_000012.11:g.124189109C>T	(Likely) benign	2 labs	05eee81841
10:50740600 ERCC6 C>T	10	50740600	50740600	C	T	ERCC6	c.411G>A	NM_000124.2	NP_000115.1:p.(Leu137=)	NC_000010.10:g.50740600C>T	(Likely) benign	2 labs	05f0a661cb
1:236924298 ACTN2 T>C	1	236924298	236924298	T	C	ACTN2	c.2368-17T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924298T>C	(Likely) benign	3 labs	05ed9c56de
2:241706348 KIF1A G>A	2	241706348	241706348	G	A	KIF1A	c.1668C>T	NM_001244008.1	NP_001230937.1:p.(Ser556=)	NC_000002.11:g.241706348G>A	(Likely) benign	2 labs	05faccfbcc
9:135786868 TSC1 G>A	9	135786868	135786868	G	A	TSC1	c.1001C>T	NM_000368.5	NP_000359.1:p.(Ser334Leu)	NC_000009.11:g.135786868G>A	(Likely) benign	2 labs	0606ff2f0c
2:179470198 TTN C>T	2	179470198	179470198	C	T	TTN	c.53824G>A	NM_001267550.2	NP_001254479.2:p.(Glu17942Lys)	NC_000002.11:g.179470198C>T	VUS	2 labs	060d4041d7
9:14806848 FREM1 C>A	9	14806848	14806848	C	A	FREM1	c.3089-4G>T	NM_144966.7	NP_659403.4:p.?	NC_000009.11:g.14806848C>A	(Likely) benign	2 labs	e05627a488
2:51253590 NRXN1 G>T	2	51253590	51253590	G	T	NRXN1	c.790C>A	NM_001135659.2	NP_001129131.1:p.(Gln264Lys)	NC_000002.11:g.51253590G>T	(Likely) benign	2 labs	061cde5c40
15:63982763 HERC1 C>T	15	63982763	63982763	C	T	HERC1	c.5914G>A	NM_003922.3	NP_003913.3:p.(Val1972Ile)	NC_000015.9:g.63982763C>T	VUS	2 labs	0623cae300
11:93534990 MED17 G>A	11	93534990	93534990	G	A	MED17	c.1329-11G>A	NM_004268.5	NP_004259.3:p.?	NC_000011.9:g.93534990G>A	(Likely) benign	2 labs	062e05d819
3:49136849 QARS1 T>C	3	49136849	49136849	T	C	QARS1	c.1542A>G	NM_005051.2	NP_005042.1:p.(Pro514=)	NC_000003.11:g.49136849T>C	(Likely) benign	2 labs	0626f88676
17:17697404 RAI1 C>T	17	17697404	17697404	C	T	RAI1	c.1142C>T	NM_030665.3	NP_109590.3:p.(Ala381Val)	NC_000017.10:g.17697404C>T	(Likely) benign	3 labs	0629598d7e
11:640109 DRD4 A>C	11	640109	640109	A	C	DRD4	c.860A>C	NM_000797.3	NP_000788.2:p.(Gln287Pro)	NC_000011.9:g.640109A>C	(Likely) benign	2 labs	0631510686
2:216274455 FN1 G>A	2	216274455	216274455	G	A	FN1	c.2130C>T	NM_212482.2	NP_997647.1:p.(Thr710=)	NC_000002.11:g.216274455G>A	(Likely) benign	2 labs	063518e2fc
20:57485396 GNAS C>T	20	57485396	57485396	C	T	GNAS	c.2907C>T	NM_080425.3	NP_536350.2:p.(Pro969=)	NC_000020.10:g.57485396C>T	(Likely) benign	2 labs	063860afdd
11:1265027 MUC5B T>C	11	1265027	1265027	T	C	MUC5B	c.6917T>C	NM_002458.3	NP_002449.2:p.(Ile2306Thr)	NC_000011.9:g.1265027T>C	(Likely) benign	2 labs	06300f44a2
16:2105400 TSC2 C>T	16	2105400	2105400	C	T	TSC2	c.482-3C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105400C>T	(Likely) benign	2 labs	064f282c42
13:111164384 COL4A2 G>A	13	111164384	111164384	G	A	COL4A2	c.4985G>A	NM_001846.3	NP_001837.2:p.(Arg1662His)	NC_000013.10:g.111164384G>A	VUS	2 labs	0655714e26
16:3293920 MEFV A>T	16	3293920	3293920	A	T	MEFV	c.1274T>A	NM_001198536.1	NP_001185465.1:p.(Phe425Tyr)	NC_000016.9:g.3293920A>T	(Likely) benign	2 labs	06598182c7
18:28935272 DSG1 G>A	18	28935272	28935272	G	A	DSG1	c.3113G>A	NM_001942.3	NP_001933.2:p.(Arg1038Gln)	NC_000018.9:g.28935272G>A	VUS	2 labs	06669fe4c3
15:85407861 ALPK3 G>A	15	85407861	85407861	G	A	ALPK3	c.5294G>A	NM_020778.4	NP_065829.3:p.(Trp1765Ter)	NC_000015.9:g.85407861G>A	(Likely) pathogenic	2 labs	06796d0f50
X:110970141 ALG13 C>T	X	110970141	110970141	C	T	ALG13	c.1834C>T	NM_001099922.3	NP_001093392.1:p.(Pro612Ser)	NC_000023.10:g.110970141C>T	(Likely) benign	4 labs	0684513ff5
13:32900421 BRCA2 T>G	13	32900421	32900421	T	G	BRCA2	c.516+2T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900421T>G	(Likely) pathogenic	2 labs	0686a1c6fd
22:40815120 MRTFA A>C	22	40815120	40815120	A	C	MRTFA				NC_000022.10:g.40815120A>C	(Likely) benign	2 labs	06862c4303
3:122003757 CASR G>T	3	122003757	122003757	G	T	CASR	c.2986G>T	NM_001178065.2	NP_001171536.2:p.(Ala996Ser)	NC_000003.11:g.122003757G>T	(Likely) benign	3 labs	e06543a8b2
14:29237567 FOXG1 G>C	14	29237567	29237567	G	C	FOXG1	c.1082G>C	NM_005249.5	NP_005240.3:p.(Gly361Ala)	NC_000014.8:g.29237567G>C	VUS	2 labs	e066444b3e
12:33021917 PKP2 C>G	12	33021917	33021917	C	G	PKP2	c.1114G>C	NM_004572.4	NP_004563.2:p.(Ala372Pro)	NC_000012.11:g.33021917C>G	(Likely) benign	3 labs	e06b884847
20:45362427 SLC2A10 C>G	20	45362427	45362427	C	G	SLC2A10	c.1580C>G	NM_030777.3	NP_110404.1:p.(Ser527Cys)	NC_000020.10:g.45362427C>G	VUS	2 labs	06a39cac5c
1:878029 SAMD11 C>T	1	878029	878029	C	T	SAMD11	c.1155C>T	NM_152486.4	NP_689699.3:p.(Asn385=)	NC_000001.10:g.878029C>T	(Likely) benign	2 labs	069f48b204
18:44181425 LOXHD1 T>G	18	44181425	44181425	T	G	LOXHD1	c.889A>C	NM_144612.6	NP_653213.6:p.(Thr297Pro)	NC_000018.9:g.44181425T>G	VUS	2 labs	06a9db973f
4:106566465 ARHGEF38 C>A	4	106566465	106566465	C	A	ARHGEF38	c.795C>A	NM_001242729.2	NP_001229658.1:p.(Tyr265Ter)	NC_000004.11:g.106566465C>A	VUS	2 labs	06aea44c3f
14:21793236 RPGRIP1 G>A	14	21793236	21793236	G	A	RPGRIP1	c.2215+7G>A	NM_020366.3	NP_065099.3:p.?	NC_000014.8:g.21793236G>A	(Likely) benign	2 labs	06b6fe6063
9:134394788 POMT1 G>A	9	134394788	134394788	G	A	POMT1	c.1565G>A	NM_007171.3	NP_009102.3:p.(Arg522Lys)	NC_000009.11:g.134394788G>A	(Likely) benign	4 labs	06bde27360
1:213032389 FLVCR1 C>T	1	213032389	213032389	C	T	FLVCR1	c.595C>T	NM_014053.4	NP_054772.1:p.(Leu199Phe)	NC_000001.10:g.213032389C>T	VUS	2 labs	06b62d0d9e
1:45797371 MUTYH AG>A	1	45797371	45797374	AG	A	MUTYH	c.1147del	NM_001128425.2	NP_001121897.1:p.(Ala385ProfsTer23)	NC_000001.10:g.45797374del	(Likely) pathogenic	3 labs	06ca7b84e5
2:179452629 TTN G>A	2	179452629	179452629	G	A	TTN	c.63505C>T	NM_001267550.1	NP_001254479.1:p.(Leu21169=)	NC_000002.11:g.179452629G>A	(Likely) benign	2 labs	06cf615221
9:35707387 TLN1 G>A	9	35707387	35707387	G	A	TLN1	c.4731C>T	NM_006289.4	NP_006280.3:p.(Ser1577=)	NC_000009.11:g.35707387G>A	(Likely) benign	2 labs	06d14df2ae
12:125461964 DHX37 C>T	12	125461964	125461964	C	T	DHX37	c.811G>A	NM_032656.4	NP_116045.2:p.(Val271Ile)	NC_000012.11:g.125461964C>T	(Likely) benign	2 labs	06d2e22fb0
8:90967646 NBN A>G	8	90967646	90967646	A	G	NBN	c.1016T>C	NM_001024688.2	NP_001019859.1:p.(Leu339Ser)	NC_000008.10:g.90967646A>G	(Likely) benign	3 labs	06d8833bf6
19:36574063 WDR62 C>T	19	36574063	36574063	C	T	WDR62	c.1470C>T	NM_001083961.1	NP_001077430.1:p.(Asp490=)	NC_000019.9:g.36574063C>T	(Likely) benign	2 labs	06e25086a5
4:170347331 NEK1 C>T	4	170347331	170347331	C	T	NEK1	c.2940G>A	NM_001199397.1	NP_001186326.1:p.(Ser980=)	NC_000004.11:g.170347331C>T	(Likely) benign	2 labs	06e40e5e84
8:6302671 MCPH1 C>T	8	6302671	6302671	C	T	MCPH1	c.1428C>T	NM_024596.4	NP_078872.2:p.(Phe476=)	NC_000008.10:g.6302671C>T	(Likely) benign	2 labs	06f59e8a12
8:61735155 CHD7 C>A	8	61735155	61735155	C	A	CHD7				NC_000008.10:g.61735155C>A	(Likely) benign	3 labs	06f9fddeb6
X:70368013 NLGN3 C>T	X	70368013	70368013	C	T	NLGN3	c.414C>T	NM_181303.2	NP_851820.1:p.(Asn138=)	NC_000023.10:g.70368013C>T	(Likely) benign	2 labs	06f6288ff4
7:5568366 ACTB A>G	7	5568366	5568366	A	G	ACTB	c.364-16T>C	NM_001101.5	NP_001092.1:p.?	NC_000007.13:g.5568366A>G	(Likely) benign	3 labs	0704218832
8:11566364 GATA4 C>T	8	11566364	11566364	C	T	GATA4	c.543C>T	NM_002052.4	NP_002043.2:p.(Ala181=)	NC_000008.10:g.11566364C>T	(Likely) benign	2 labs	07046fb294
13:111084656 COL4A2 C>T	13	111084656	111084656	C	T	COL4A2	c.649-16C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111084656C>T	(Likely) benign	2 labs	07097b80ef
17:73752819 ITGB4 A>G	17	73752819	73752819	A	G	ITGB4	c.4932A>G	NM_000213.4	NP_000204.3:p.(Pro1644=)	NC_000017.10:g.73752819A>G	(Likely) benign	2 labs	070b2620f4
1:16372123 CLCNKB G>A	1	16372123	16372123	G	A	CLCNKB	c.171G>A	NM_000085.4	NP_000076.2:p.(Gly57=)	NC_000001.10:g.16372123G>A	(Likely) benign	2 labs	07102586dc
1:216495313 USH2A T>C	1	216495313	216495313	T	C	USH2A	c.1556A>G	NM_206933.2	NP_996816.2:p.(Gln519Arg)	NC_000001.10:g.216495313T>C	VUS	2 labs	071a113ef4
13:77672744 MYCBP2 T>C	13	77672744	77672744	T	C	MYCBP2	c.8545A>G	NM_015057.4	NP_055872.4:p.(Asn2849Asp)	NC_000013.10:g.77672744T>C	(Likely) benign	2 labs	071b37012b
18:7011463 LAMA1 C>T	18	7011463	7011463	C	T	LAMA1	c.3523G>A	NM_005559.3	NP_005550.2:p.(Asp1175Asn)	NC_000018.9:g.7011463C>T	(Likely) benign	2 labs	071ce56cc9
11:66290922 BBS1 C>T	11	66290922	66290922	C	T	BBS1	c.831-5C>T	NM_024649.4	NP_078925.3:p.?	NC_000011.9:g.66290922C>T	(Likely) benign	2 labs	072054f59b
X:133119309 GPC3 G>C	X	133119309	133119309	G	C	GPC3	c.168C>G	NM_001164617.1	NP_001158089.1:p.(Pro56=)	NC_000023.10:g.133119309G>C	(Likely) benign	2 labs	072582d54c
5:42719041 GHR C>G	5	42719041	42719041	C	G	GHR	c.1432C>G	NM_000163.5	NP_000154.1:p.(Pro478Ala)	NC_000005.9:g.42719041C>G	VUS	2 labs	e156f81336
19:50813024 MYH14 T>TGCCC	19	50813024	50813025	T	TGCCC	MYH14	c.6088_6089insGCCC	NM_001145809.1	NP_001139281.1:p.(Ser2030CysfsTer18)	NC_000019.9:g.50813024_50813025insGCCC	(Likely) benign	2 labs	072c87957b
15:85333953 ZNF592 A>G	15	85333953	85333953	A	G	ZNF592	c.2238A>G	NM_014630.3	NP_055445.2:p.(Gln746=)	NC_000015.9:g.85333953A>G	(Likely) benign	2 labs	073140d87d
10:97423884 TCTN3 G>A	10	97423884	97423884	G	A	TCTN3	c.1764C>T	NM_015631.6	NP_056446.4:p.(Val588=)	NC_000010.10:g.97423884G>A	(Likely) benign	3 labs	0731c78ff0
16:730632 STUB1 T>C	16	730632	730632	T	C	STUB1	c.107T>C	NM_005861.3	NP_005852.2:p.(Leu36Pro)	NC_000016.9:g.730632T>C	VUS	2 labs	0741733b95
11:103158278 DYNC2H1 C>T	11	103158278	103158278	C	T	DYNC2H1	c.11060C>T	NM_001080463.2	NP_001073932.1:p.(Ala3687Val)	NC_000011.9:g.103158278C>T	(Likely) benign	3 labs	0745338fb3
6:112441478 LAMA4 C>A	6	112441478	112441478	C	A	LAMA4	c.4665+8G>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112441478C>A	(Likely) benign	3 labs	073c7336ff
19:34003666 PEPD C>T	19	34003666	34003666	C	T	PEPD	c.34G>A	NM_000285.4	NP_000276.2:p.(Gly12Arg)	NC_000019.9:g.34003666C>T	VUS	3 labs	074f481ef1
14:68244396 ZFYVE26 G>A	14	68244396	68244396	G	A	ZFYVE26	c.4854C>T	NM_015346.4	NP_056161.2:p.(Leu1618=)	NC_000014.8:g.68244396G>A	(Likely) benign	4 labs	07548cbc08
6:24357757 DCDC2 G>T	6	24357757	24357757	G	T	DCDC2	c.222C>A	NM_016356.4	NP_057440.2:p.(Ile74=)	NC_000006.11:g.24357757G>T	(Likely) benign	2 labs	0760a98ed3
3:121980630 CASR G>A	3	121980630	121980630	G	A	CASR	c.748G>A	NM_001178065.1	NP_001171536.1:p.(Glu250Lys)	NC_000003.11:g.121980630G>A	(Likely) benign	3 labs	0764bd25ba
3:32181723 GPD1L A>G	3	32181723	32181723	A	G	GPD1L	c.370A>G	NM_015141.4	NP_055956.1:p.(Ile124Val)	NC_000003.11:g.32181723A>G	(Likely) benign	5 labs	e0851cfcdc
12:102163960 GNPTAB G>A	12	102163960	102163960	G	A	GNPTAB	c.1123C>T	NM_024312.5	NP_077288.2:p.(Arg375Ter)	NC_000012.11:g.102163960G>A	(Likely) pathogenic	2 labs	076edca99d
17:78084636 GAA G>A	17	78084636	78084636	G	A	GAA	c.1548G>A	NM_000152.3	NP_000143.2:p.(Trp516Ter)	NC_000017.10:g.78084636G>A	(Likely) pathogenic	2 labs	0777d18406
X:47433684 SYN1 T>C	X	47433684	47433684	T	C	SYN1	c.1699A>G	NM_133499.2	NP_598006.1:p.(Thr567Ala)	NC_000023.10:g.47433684T>C	(Likely) benign	5 labs	07786709ff
1:982274 AGRN G>A	1	982274	982274	G	A	AGRN	c.3325G>A	NM_198576.4	NP_940978.2:p.(Ala1109Thr)	NC_000001.10:g.982274G>A	VUS	2 labs	0779532b30
12:2719715 CACNA1C C>T	12	2719715	2719715	C	T	CACNA1C	c.3627C>T	NM_199460.3	NP_955630.3:p.(Cys1209=)	NC_000012.11:g.2719715C>T	(Likely) benign	2 labs	077dd6e4dc
1:201341159 TNNT2 A>C	1	201341159	201341159	A	C	TNNT2	c.63T>G	NM_001276347.1	NP_001263276.1:p.(Val21=)	NC_000001.10:g.201341159A>C	(Likely) benign	3 labs	07800e745b
15:52611351 MYO5A C>T	15	52611351	52611351	C	T	MYO5A	c.5065G>A	NM_000259.3	NP_000250.3:p.(Val1689Ile)	NC_000015.9:g.52611351C>T	(Likely) benign	2 labs	0787ec612f
3:37059012 MLH1 C>G	3	37059012	37059012	C	G	MLH1	c.806C>G	NM_000249.3	NP_000240.1:p.(Ser269Ter)	NC_000003.11:g.37059012C>G	(Likely) pathogenic	2 labs	0788c6a320
14:31355096 COCH C>G	14	31355096	31355096	C	G	COCH	c.1055C>G	NM_001135058.2	NP_001128530.1:p.(Thr352Ser)	NC_000014.8:g.31355096C>G	(Likely) benign	3 labs	079704dbf5
19:18266981 PIK3R2 G>A	19	18266981	18266981	G	A	PIK3R2	c.292G>A	NM_005027.4	NP_005018.2:p.(Ala98Thr)	NC_000019.9:g.18266981G>A	VUS	2 labs	079c11bc10
16:2162453 PKD1 C>T	16	2162453	2162453	C	T	PKD1	c.3183G>A	NM_001009944.2	NP_001009944.2:p.(Glu1061=)	NC_000016.9:g.2162453C>T	(Likely) benign	3 labs	079b8c4ed1
17:17697101 RAI1 AGCAGCAGCAG>A	17	17697101	17697111	AGCAGCAGCAG	A	RAI1	c.840_849del	NM_030665.4	NP_109590.3:p.(Gln280HisfsTer81)	NC_000017.10:g.17697102_17697111del	(Likely) benign	2 labs	07a5435c3d
8:61763035 CHD7 G>A	8	61763035	61763035	G	A	CHD7				NC_000008.10:g.61763035G>A	(Likely) pathogenic	2 labs	079e805c62
3:33099691 GLB1 C>T	3	33099691	33099691	C	T	GLB1	c.767G>A	NM_001317040.1	NP_001303969.1:p.(Arg256His)	NC_000003.11:g.33099691C>T	(Likely) benign	2 labs	07a507d375
14:23858271 MYH6 A>G	14	23858271	23858271	A	G	MYH6	c.3979-7T>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271A>G	(Likely) benign	4 labs	e0908437dd
17:18023499 MYO15A G>A	17	18023499	18023499	G	A	MYO15A	c.1385G>A	NM_016239.3	NP_057323.3:p.(Gly462Asp)	NC_000017.10:g.18023499G>A	(Likely) benign	2 labs	07aca3a3f4
1:120510194 NOTCH2 C>T	1	120510194	120510194	C	T	NOTCH2	c.1315G>A	NM_024408.3	NP_077719.2:p.(Ala439Thr)	NC_000001.10:g.120510194C>T	(Likely) benign	2 labs	07adec7a97
3:51251601 DOCK3 G>A	3	51251601	51251601	G	A	DOCK3	c.1175G>A	NM_004947.4	NP_004938.1:p.(Arg392Gln)	NC_000003.11:g.51251601G>A	(Likely) benign	2 labs	07aff9c77b
3:53757865 CACNA1D A>T	3	53757865	53757865	A	T	CACNA1D	c.1999A>T	NM_000720.4	NP_000711.1:p.(Met667Leu)	NC_000003.11:g.53757865A>T	VUS	2 labs	07b2c1a500
X:106890910 PRPS1 G>A	X	106890910	106890910	G	A	PRPS1	c.779G>A	NM_002764.4	NP_002755.1:p.(Arg260His)	NC_000023.10:g.106890910G>A	VUS	4 labs	07b92286c3
X:103494925 ESX1 G>A	X	103494925	103494925	G	A	ESX1	c.1205C>T	NM_153448.3	NP_703149.1:p.(Ala402Val)	NC_000023.10:g.103494925G>A	(Likely) benign	2 labs	07bca9ece9
6:152605217 SYNE1 C>A	6	152605217	152605217	C	A	SYNE1	c.18103G>T	NM_182961.3	NP_892006.3:p.(Ala6035Ser)	NC_000006.11:g.152605217C>A	VUS	2 labs	07beb32759
X:72434310 NAP1L2 G>C	X	72434310	72434310	G	C	NAP1L2	c.19C>G	NM_021963.3	NP_068798.1:p.(Arg7Gly)	NC_000023.10:g.72434310G>C	(Likely) benign	2 labs	07c09bab6e
11:47353790 MYBPC3 T>C	11	47353790	47353790	T	C	MYBPC3	c.3647A>G	NM_000256.3	NP_000247.2:p.(Lys1216Arg)	NC_000011.9:g.47353790T>C	VUS	2 labs	07c5dc0f25
17:43351496 MAP3K14 C>T	17	43351496	43351496	C	T	MAP3K14	c.1546G>A	NM_003954.5	NP_003945.2:p.(Val516Ile)	NC_000017.10:g.43351496C>T	(Likely) benign	2 labs	07c63c4824
2:179591984 TTN C>T	2	179591984	179591984	C	T	TTN	c.20108G>A	NM_001267550.1	NP_001254479.1:p.(Arg6703Gln)	NC_000002.11:g.179591984C>T	VUS	2 labs	07c695c798
8:1728649 CLN8 T>C	8	1728649	1728649	T	C	CLN8	c.777T>C	NM_018941.3	NP_061764.2:p.(Asn259=)	NC_000008.10:g.1728649T>C	(Likely) benign	2 labs	07c6a72582
9:127262802 NR5A1 C>G	9	127262802	127262802	C	G	NR5A1	c.437G>C	NM_004959.4	NP_004950.2:p.(Gly146Ala)	NC_000009.11:g.127262802C>G	(Likely) benign	2 labs	07ca86e15b
17:29550493 NF1 TTAAC>T	17	29550493	29550499	TTAAC	T	NF1	c.1756_1759del	NM_000267.3	NP_000258.1:p.(Thr586ValfsTer18)	NC_000017.10:g.29550496_29550499del	(Likely) pathogenic	3 labs	07d615ffbb
10:55582127 PCDH15 G>A	10	55582127	55582127	G	A	PCDH15	c.5380C>T	NM_001142763.1	NP_001136235.1:p.(Pro1794Ser)	NC_000010.10:g.55582127G>A	(Likely) benign	2 labs	07d958ad5c
7:92731309 SAMD9 C>T	7	92731309	92731309	C	T	SAMD9	c.4102G>A	NM_017654.3	NP_060124.2:p.(Glu1368Lys)	NC_000007.13:g.92731309C>T	(Likely) benign	2 labs	07daa7dee4
2:63609065 WDPCP G>T	2	63609065	63609065	G	T	WDPCP	c.1600C>A	NM_015910.7	NP_056994.3:p.(Gln534Lys)	NC_000002.11:g.63609065G>T	VUS	2 labs	07e78a0e3f
20:25371211 ABHD12 C>T	20	25371211	25371211	C	T	ABHD12	c.129G>A	NM_001042472.3	NP_001035937.1:p.(Thr43=)	NC_000020.10:g.25371211C>T	(Likely) benign	2 labs	07df8a9799
7:117180324 CFTR G>C	7	117180324	117180324	G	C	CFTR	c.1040G>C	NM_000492.4	NP_000483.3:p.(Arg347Pro)	NC_000007.13:g.117180324G>C	(Likely) pathogenic	3 labs	07eb033d0d
6:31918558 CFB G>A	6	31918558	31918558	G	A	CFB	c.1778+9G>A	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31918558G>A	(Likely) benign	3 labs	07ed1f2c18
15:65943081 SLC24A1 A>G	15	65943081	65943081	A	G	SLC24A1	c.2594A>G	NM_004727.3	NP_004718.1:p.(Glu865Gly)	NC_000015.9:g.65943081A>G	(Likely) benign	2 labs	07e8f290cd
10:127462390 MMP21 G>C	10	127462390	127462390	G	C	MMP21	c.697+10C>G	NM_147191.1	NP_671724.1:p.?	NC_000010.10:g.127462390G>C	(Likely) benign	2 labs	07f6388f57
16:88729414 MVD C>T	16	88729414	88729414	C	T	MVD	c.70+5G>A	NM_002461.3	NP_002452.1:p.?	NC_000016.9:g.88729414C>T	(Likely) pathogenic	2 labs	e0a8036a1d
11:17452492 ABCC8 G>A	11	17452492	17452492	G	A	ABCC8	c.1686C>T	NM_000352.6	NP_000343.2:p.(His562=)	NC_000011.9:g.17452492G>A	(Likely) benign	3 labs	e0aa668dc1
2:179425591 TTN C>T	2	179425591	179425591	C	T	TTN	c.85268G>A	NM_001267550.2	NP_001254479.2:p.(Arg28423Gln)	NC_000002.11:g.179425591C>T	VUS	2 labs	0814330f59
19:41858602 TGFB1 G>A	19	41858602	41858602	G	A	TGFB1	c.348C>T	NM_000660.6	NP_000651.3:p.(Thr116=)	NC_000019.9:g.41858602G>A	(Likely) benign	2 labs	080f75ab10
4:39216240 WDR19 G>A	4	39216240	39216240	G	A	WDR19	c.910G>A	NM_025132.3	NP_079408.3:p.(Val304Ile)	NC_000004.11:g.39216240G>A	(Likely) benign	2 labs	08103c35ea
1:237875068 RYR2 C>T	1	237875068	237875068	C	T	RYR2	c.10254C>T	NM_001035.3	NP_001026.2:p.(Asn3418=)	NC_000001.10:g.237875068C>T	(Likely) benign	5 labs	0815fd7dcc
16:4852373 ROGDI G>C	16	4852373	4852373	G	C	ROGDI	c.117+10C>G	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4852373G>C	(Likely) benign	2 labs	0816cc608c
10:14950593 DCLRE1C G>A	10	14950593	14950593	G	A	DCLRE1C	c.1533C>T	NM_001289079.1	NP_001276008.1:p.(Pro511=)	NC_000010.10:g.14950593G>A	(Likely) benign	2 labs	081f3b4d3d
20:33162953 PIGU G>T	20	33162953	33162953	G	T	PIGU	c.1149C>A	NM_080476.5	NP_536724.1:p.(Asn383Lys)	NC_000020.10:g.33162953G>T	(Likely) pathogenic	2 labs	e0b751a65f
2:173341227 ITGA6 A>G	2	173341227	173341227	A	G	ITGA6	c.1374A>G	NM_000210.4	NP_000201.2:p.(Ser458=)	NC_000002.11:g.173341227A>G	VUS	2 labs	e0b943710c
7:148106490 CNTNAP2 G>A	7	148106490	148106490	G	A	CNTNAP2	c.3723G>A	NM_014141.6	NP_054860.1:p.(Ala1241=)	NC_000007.13:g.148106490G>A	(Likely) benign	3 labs	08381d1fc0
2:44104971 ABCG8 C>G	2	44104971	44104971	C	G	ABCG8	c.1941C>G	NM_022437.3	NP_071882.1:p.(Val647=)	NC_000002.11:g.44104971C>G	(Likely) benign	3 labs	0836a915b9
14:91772264 CCDC88C C>A	14	91772264	91772264	C	A	CCDC88C	c.3202G>T	NM_001080414.3	NP_001073883.2:p.(Ala1068Ser)	NC_000014.8:g.91772264C>A	(Likely) benign	2 labs	084711e063
1:152285295 FLG A>G	1	152285295	152285295	A	G	FLG	c.2067T>C	NM_002016.1	NP_002007.1:p.(Ser689=)	NC_000001.10:g.152285295A>G	(Likely) benign	2 labs	084bbbecf3
13:102521103 FGF14 A>T	13	102521103	102521103	A	T	FGF14	c.395T>A	NM_175929.2	NP_787125.1:p.(Met132Lys)	NC_000013.10:g.102521103A>T	VUS	2 labs	084bfff6e8
1:22205491 HSPG2 G>A	1	22205491	22205491	G	A	HSPG2	c.2470C>T	NM_001291860.1	NP_001278789.1:p.(Arg824Cys)	NC_000001.10:g.22205491G>A	VUS	2 labs	084d6f9040
X:101096053 NXF5 T>C	X	101096053	101096053	T	C	NXF5	c.415A>G	NM_032946.2	NP_116564.2:p.(Ile139Val)	NC_000023.10:g.101096053T>C	(Likely) benign	3 labs	0852e7eaf3
2:175440059 WIPF1 G>A	2	175440059	175440059	G	A	WIPF1	c.231C>T	NM_001077269.1	NP_001070737.1:p.(Gly77=)	NC_000002.11:g.175440059G>A	(Likely) benign	2 labs	085533351b
15:89400023 ACAN A>T	15	89400023	89400023	A	T	ACAN	c.4207A>T	NM_013227.3	NP_037359.3:p.(Thr1403Ser)	NC_000015.9:g.89400023A>T	(Likely) benign	2 labs	0857bed60b
4:41263718 UCHL1 A>AT	4	41263718	41263728	A	AT	UCHL1	c.326-4dup	NM_004181.5	NP_004172.2:p.?	NC_000004.11:g.41263728dup	(Likely) benign	2 labs	085353848c
X:153588386 FLNA C>G	X	153588386	153588386	C	G	FLNA	c.3777G>C	NM_001110556.2	NP_001104026.1:p.(Gln1259His)	NC_000023.10:g.153588386C>G	VUS	2 labs	085d69abf1
16:9892213 GRIN2A G>A	16	9892213	9892213	G	A	GRIN2A	c.2277C>T	NM_001134407.3	NP_001127879.1:p.(Thr759=)	NC_000016.9:g.9892213G>A	(Likely) benign	2 labs	08690b1f89
6:108233929 SEC63 G>A	6	108233929	108233929	G	A	SEC63	c.564C>T	NM_007214.5	NP_009145.1:p.(Asn188=)	NC_000006.11:g.108233929G>A	(Likely) benign	3 labs	086ebfc4d5
11:126162666 TIRAP G>A	11	126162666	126162666	G	A	TIRAP	c.362G>A	NM_001039661.1	NP_001034750.1:p.(Arg121Gln)	NC_000011.9:g.126162666G>A	VUS	2 labs	08750ba9f1
3:184049385 EIF4G1 C>T	3	184049385	184049385	C	T	EIF4G1	c.4389C>T	NM_182917.4	NP_886553.3:p.(Asp1463=)	NC_000003.11:g.184049385C>T	(Likely) benign	2 labs	0877e97bf2
2:47238530 TTC7A G>A	2	47238530	47238530	G	A	TTC7A	c.1348G>A	NM_001288951.1	NP_001275880.1:p.(Val450Met)	NC_000002.11:g.47238530G>A	(Likely) benign	3 labs	087b3ed50a
16:81968131 PLCG2 A>G	16	81968131	81968131	A	G	PLCG2	c.2837A>G	NM_002661.3	NP_002652.2:p.(Asn946Ser)	NC_000016.9:g.81968131A>G	(Likely) benign	2 labs	08812774d4
11:61719387 BEST1 T>C	11	61719387	61719387	T	C	BEST1	c.109T>C	NM_004183.4	NP_004174.1:p.(Leu37=)	NC_000011.9:g.61719387T>C	(Likely) benign	3 labs	0894dd8081
17:29559101 NF1 C>T	17	29559101	29559101	C	T	NF1	c.3208C>T	NM_000267.3	NP_000258.1:p.(Gln1070Ter)	NC_000017.10:g.29559101C>T	(Likely) pathogenic	2 labs	088ec1897c
9:140637904 EHMT1 A>G	9	140637904	140637904	A	G	EHMT1	c.905A>G	NM_024757.4	NP_079033.4:p.(Lys302Arg)	NC_000009.11:g.140637904A>G	(Likely) benign	2 labs	0898211225
1:237947675 RYR2 C>T	1	237947675	237947675	C	T	RYR2	c.12663C>T	NM_001035.2	NP_001026.2:p.(Ser4221=)	NC_000001.10:g.237947675C>T	VUS	2 labs	08a54d3723
15:35086909 ACTC1 G>A	15	35086909	35086909	G	A	ACTC1	c.101C>T	NM_005159.5	NP_005150.1:p.(Pro34Leu)	NC_000015.9:g.35086909G>A	VUS	2 labs	e0d8256ea8
2:238249550 COL6A3 G>A	2	238249550	238249550	G	A	COL6A3	c.8009C>T	NM_004369.3	NP_004360.2:p.(Ala2670Val)	NC_000002.11:g.238249550G>A	VUS	2 labs	08bbdad6ac
13:32911322 BRCA2 A>T	13	32911322	32911322	A	T	BRCA2	c.2830A>T	NM_000059.4	NP_000050.3:p.(Lys944Ter)	NC_000013.10:g.32911322A>T	(Likely) pathogenic	4 labs	e0d87a3148
5:155771510 SGCD G>C	5	155771510	155771510	G	C	SGCD	c.15G>C	NM_000337.5	NP_000328.2:p.(Glu5Asp)	NC_000005.9:g.155771510G>C	(Likely) benign	2 labs	08ab734b3f
17:76116917 TMC6 C>T	17	76116917	76116917	C	T	TMC6	c.1536-4G>A	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76116917C>T	(Likely) benign	2 labs	08ae5b5c2d
13:32907401 BRCA2 G>C	13	32907401	32907401	G	C	BRCA2	c.1786G>C	NM_000059.4	NP_000050.3:p.(Asp596His)	NC_000013.10:g.32907401G>C	(Likely) benign	7 labs	08c24fdca1
1:43913909 SZT2 G>A	1	43913909	43913909	G	A	SZT2	c.9552G>A	NM_015284.3	NP_056099.3:p.(Ala3184=)	NC_000001.10:g.43913909G>A	(Likely) benign	3 labs	08be553fe3
3:37061777 MLH1 T>A	3	37061777	37061777	T	A	MLH1	c.885-24T>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37061777T>A	(Likely) benign	4 labs	08c8918f84
X:17744889 NHS T>C	X	17744889	17744889	T	C	NHS	c.2663T>C	NM_001291867.2	NP_001278796.1:p.(Met888Thr)	NC_000023.10:g.17744889T>C	VUS	2 labs	08cef9984f
19:38986960 RYR1 C>T	19	38986960	38986960	C	T	RYR1	c.6654C>T	NM_000540.2	NP_000531.2:p.(Gly2218=)	NC_000019.9:g.38986960C>T	VUS	3 labs	08d3e4aeab
17:8140698 CTC1 C>T	17	8140698	8140698	C	T	CTC1	c.787G>A	NM_025099.6	NP_079375.3:p.(Val263Met)	NC_000017.10:g.8140698C>T	VUS	2 labs	08db36f616
10:6063607 IL2RA A>C	10	6063607	6063607	A	C	IL2RA	c.417T>G	NM_000417.2	NP_000408.1:p.(Ile139Met)	NC_000010.10:g.6063607A>C	(Likely) benign	2 labs	08e3930169
2:179594510 TTN A>G	2	179594510	179594510	A	G	TTN	c.18470T>C	NM_001267550.2	NP_001254479.2:p.(Ile6157Thr)	NC_000002.11:g.179594510A>G	(Likely) benign	3 labs	08e470603a
14:21790040 RPGRIP1 G>T	14	21790040	21790040	G	T	RPGRIP1	c.1639G>T	NM_020366.4	NP_065099.3:p.(Ala547Ser)	NC_000014.8:g.21790040G>T	(Likely) benign	5 labs	090315116c
14:74953134 NPC2 C>T	14	74953134	74953134	C	T	NPC2	c.88G>A	NM_006432.5	NP_006423.1:p.(Val30Met)	NC_000014.8:g.74953134C>T	(Likely) benign	3 labs	e0eb15b17b
5:169494579 DOCK2 G>T	5	169494579	169494579	G	T	DOCK2	c.4533G>T	NM_004946.3	NP_004937.1:p.(Met1511Ile)	NC_000005.9:g.169494579G>T	(Likely) benign	2 labs	0900625718
8:90990479 NBN C>G	8	90990479	90990479	C	G	NBN	c.553G>C	NM_002485.5	NP_002476.2:p.(Glu185Gln)	NC_000008.10:g.90990479C>G	(Likely) benign	3 labs	0907ace6eb
4:126384731 FAT4 A>C	4	126384731	126384731	A	C	FAT4	c.11814A>C	NM_001291303.1	NP_001278232.1:p.(Glu3938Asp)	NC_000004.11:g.126384731A>C	VUS	2 labs	091a912ffb
16:89865605 FANCA C>A	16	89865605	89865605	C	A	FANCA	c.862G>T	NM_000135.4	NP_000126.2:p.(Glu288Ter)	NC_000016.9:g.89865605C>A	(Likely) pathogenic	3 labs	091b418118
14:64612858 SYNE2 C>A	14	64612858	64612858	C	A	SYNE2	c.15556C>A	NM_182914.3	NP_878918.2:p.(Leu5186Met)	NC_000014.8:g.64612858C>A	(Likely) benign	2 labs	e0ee1bf789
X:595351 SHOX A>G	X	595351	595351	A	G	SHOX	c.278-2A>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.595351A>G	(Likely) pathogenic	2 labs	09223ba8f7
1:43205670 CLDN19 A>G	1	43205670	43205670	A	G	CLDN19	c.65T>C	NM_001123395.1	NP_001116867.1:p.(Ile22Thr)	NC_000001.10:g.43205670A>G	VUS	2 labs	0925b78da2
3:14180706 TMEM43 C>T	3	14180706	14180706	C	T	TMEM43	c.909C>T	NM_024334.3	NP_077310.1:p.(Ser303=)	NC_000003.11:g.14180706C>T	(Likely) benign	4 labs	09207f45b8
8:145740366 RECQL4 CA>C	8	145740366	145740367	CA	C	RECQL4	c.1573del	NM_004260.4	NP_004251.4:p.(Cys525AlafsTer33)	NC_000008.10:g.145740367del	(Likely) pathogenic	3 labs	092ba8735b
20:34055306 CEP250 A>G	20	34055306	34055306	A	G	CEP250	c.777A>G	NM_007186.6	NP_009117.2:p.(Glu259=)	NC_000020.10:g.34055306A>G	(Likely) benign	2 labs	092e18beee
4:126398497 FAT4 G>A	4	126398497	126398497	G	A	FAT4	c.12479+8G>A	NM_001291303.1	NP_001278232.1:p.?	NC_000004.11:g.126398497G>A	(Likely) benign	2 labs	0936e10d06
X:47308345 ZNF41 T>A	X	47308345	47308345	T	A	ZNF41	c.824A>T	NM_007130.3	NP_009061.1:p.(Glu275Val)	NC_000023.10:g.47308345T>A	(Likely) benign	2 labs	093c38001d
21:34037273 SYNJ1 C>A	21	34037273	34037273	C	A	SYNJ1	c.2371G>T	NM_003895.3	NP_003886.3:p.(Asp791Tyr)	NC_000021.8:g.34037273C>A	VUS	2 labs	094614ccd0
1:22987666 C1QB C>T	1	22987666	22987666	C	T	C1QB	c.549C>T	NM_000491.3	NP_000482.3:p.(Asn183=)	NC_000001.10:g.22987666C>T	(Likely) benign	2 labs	09422a3241
17:78184630 SGSH C>T	17	78184630	78184630	C	T	SGSH	c.1130G>A	NM_000199.4	NP_000190.1:p.(Arg377His)	NC_000017.10:g.78184630C>T	(Likely) pathogenic	2 labs	0943157327
17:41245905 BRCA1 A>C	17	41245905	41245905	A	C	BRCA1	c.1643T>G	NM_007294.4	NP_009225.1:p.(Ile548Ser)	NC_000017.10:g.41245905A>C	(Likely) benign	2 labs	093f615e82
6:88234361 RARS2 C>G	6	88234361	88234361	C	G	RARS2	c.363G>C	NM_001350508.1	NP_001337437.1:p.(Thr121=)	NC_000006.11:g.88234361C>G	(Likely) benign	2 labs	094a4d251b
3:57131714 IL17RD C>T	3	57131714	57131714	C	T	IL17RD	c.1585G>A	NM_001318864.1	NP_001305793.1:p.(Glu529Lys)	NC_000003.11:g.57131714C>T	VUS	2 labs	094c748732
2:179595112 TTN A>G	2	179595112	179595112	A	G	TTN	c.18029-14T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179595112A>G	(Likely) benign	2 labs	09517bb5a1
X:135122231 SLC9A6 G>A	X	135122231	135122231	G	A	SLC9A6	c.1728-4G>A	NM_001042537.2	NP_001036002.1:p.?	NC_000023.10:g.135122231G>A	(Likely) benign	3 labs	e0fd3e7507
1:197398583 CRB1 A>G	1	197398583	197398583	A	G	CRB1	c.2609A>G	NM_001257965.1	NP_001244894.1:p.(Asn870Ser)	NC_000001.10:g.197398583A>G	VUS	2 labs	09559b43b3
X:32383172 DMD T>C	X	32383172	32383172	T	C	DMD	c.4990A>G	NM_004006.3	NP_003997.2:p.(Thr1664Ala)	NC_000023.10:g.32383172T>C	VUS	3 labs	e10037d682
4:151773600 LRBA C>G	4	151773600	151773600	C	G	LRBA	c.3262G>C	NM_001199282.2	NP_001186211.2:p.(Glu1088Gln)	NC_000004.11:g.151773600C>G	(Likely) benign	2 labs	095736c001
2:220432804 OBSL1 G>A	2	220432804	220432804	G	A	OBSL1	c.1255C>T	NM_015311.2	NP_056126.1:p.(Arg419Cys)	NC_000002.11:g.220432804G>A	VUS	2 labs	0957928394
12:124197099 ATP6V0A2 C>T	12	124197099	124197099	C	T	ATP6V0A2	c.-14C>T	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124197099C>T	(Likely) benign	3 labs	095e1806b9
4:1806153 FGFR3 C>A	4	1806153	1806153	C	A	FGFR3	c.1172C>A	NM_000142.5	NP_000133.1:p.(Ala391Glu)	NC_000004.11:g.1806153C>A	(Likely) pathogenic	3 labs	096300b135
5:127622983 FBN2 C>T	5	127622983	127622983	C	T	FBN2	c.6880+17G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127622983C>T	(Likely) benign	2 labs	e100aa135f
17:39925678 JUP C>T	17	39925678	39925678	C	T	JUP	c.460G>A	NM_001352773.2	NP_001339702.1:p.(Glu154Lys)	NC_000017.10:g.39925678C>T	VUS	3 labs	e1045101a4
7:116339248 MET T>C	7	116339248	116339248	T	C	MET	c.110T>C	NM_001127500.1	NP_001120972.1:p.(Val37Ala)	NC_000007.13:g.116339248T>C	(Likely) benign	2 labs	097162afb4
12:58021513 B4GALNT1 G>C	12	58021513	58021513	G	C	B4GALNT1	c.1272C>G	NM_001478.4	NP_001469.1:p.(Val424=)	NC_000012.11:g.58021513G>C	(Likely) benign	2 labs	0973d5c524
17:10535930 MYH3 G>A	17	10535930	10535930	G	A	MYH3	c.4819C>T	NM_002470.3	NP_002461.2:p.(Arg1607Trp)	NC_000017.10:g.10535930G>A	VUS	2 labs	09756c4495
2:47693838 MSH2 C>T	2	47693838	47693838	C	T	MSH2	c.1552C>T	NM_000251.3	NP_000242.1:p.(Gln518Ter)	NC_000002.11:g.47693838C>T	(Likely) pathogenic	2 labs	e1046c105e
16:57951394 CNGB1 T>G	16	57951394	57951394	T	G	CNGB1	c.1958-14A>C	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57951394T>G	(Likely) benign	2 labs	e1070f4044
3:52485759 TNNC1 C>T	3	52485759	52485759	C	T	TNNC1	c.317+1G>A	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52485759C>T	(Likely) pathogenic	2 labs	097adbfd39
7:128034948 IMPDH1 G>A	7	128034948	128034948	G	A	IMPDH1	c.1545C>T	NM_000883.4	NP_000874.2:p.(Tyr515=)	NC_000007.13:g.128034948G>A	(Likely) benign	2 labs	0976084d05
20:2377204 TGM6 C>T	20	2377204	2377204	C	T	TGM6	c.477C>T	NM_198994.2	NP_945345.2:p.(Ser159=)	NC_000020.10:g.2377204C>T	(Likely) benign	2 labs	097f76fd7f
22:23915610 IGLL1 A>G	22	23915610	23915610	A	G	IGLL1				NC_000022.10:g.23915610A>G	(Likely) benign	2 labs	0980f3460d
2:217293367 SMARCAL1 C>T	2	217293367	217293367	C	T	SMARCAL1	c.1196C>T	NM_014140.3	NP_054859.2:p.(Thr399Met)	NC_000002.11:g.217293367C>T	(Likely) benign	3 labs	09837c01d5
21:45712895 AIRE C>T	21	45712895	45712895	C	T	AIRE				NC_000021.8:g.45712895C>T	(Likely) benign	2 labs	1bf2a35466
19:42795573 CIC G>A	19	42795573	42795573	G	A	CIC	c.2653G>A	NM_015125.5	NP_055940.3:p.(Gly885Ser)	NC_000019.9:g.42795573G>A	(Likely) benign	2 labs	e1088d5d1c
2:179451375 TTN T>G	2	179451375	179451375	T	G	TTN	c.64253A>C	NM_001267550.2	NP_001254479.2:p.(Tyr21418Ser)	NC_000002.11:g.179451375T>G	VUS	2 labs	0987c926f7
1:247267347 ZNF669 G>C	1	247267347	247267347	G	C	ZNF669	c.155C>G	NM_024804.2	NP_079080.2:p.(Pro52Arg)	NC_000001.10:g.247267347G>C	(Likely) benign	2 labs	09873b875b
12:66786171 GRIP1 A>C	12	66786171	66786171	A	C	GRIP1	c.2225T>G	NM_021150.3	NP_066973.2:p.(Met742Arg)	NC_000012.11:g.66786171A>C	(Likely) benign	2 labs	098759d786
22:21351071 LZTR1 C>T	22	21351071	21351071	C	T	LZTR1	c.2306C>T	NM_006767.4	NP_006758.2:p.(Thr769Met)	NC_000022.10:g.21351071C>T	VUS	2 labs	e1090aff24
5:169097598 DOCK2 G>A	5	169097598	169097598	G	A	DOCK2	c.221G>A	NM_004946.3	NP_004937.1:p.(Arg74Lys)	NC_000005.9:g.169097598G>A	(Likely) benign	2 labs	099438ac06
16:8891800 PMM2 C>G	16	8891800	8891800	C	G	PMM2	c.61C>G	NM_000303.2	NP_000294.1:p.(Arg21Gly)	NC_000016.9:g.8891800C>G	(Likely) pathogenic	4 labs	099c0e0efe
17:78013851 CCDC40 A>G	17	78013851	78013851	A	G	CCDC40	c.334A>G	NM_017950.3	NP_060420.2:p.(Thr112Ala)	NC_000017.10:g.78013851A>G	(Likely) benign	2 labs	099c5fde87
X:153697418 PLXNA3 C>T	X	153697418	153697418	C	T	PLXNA3	c.4454C>T	NM_017514.4	NP_059984.3:p.(Pro1485Leu)	NC_000023.10:g.153697418C>T	VUS	2 labs	099f1d6522
8:100123316 VPS13B T>C	8	100123316	100123316	T	C	VPS13B	c.581-10T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100123316T>C	(Likely) benign	2 labs	09a13b0020
19:13397605 CACNA1A C>A	19	13397605	13397605	C	A	CACNA1A	c.3268G>T	NM_001127221.2	NP_001120693.1:p.(Gly1090Cys)	NC_000019.9:g.13397605C>A	(Likely) benign	3 labs	09a942fe6a
12:122079311 ORAI1 A>G	12	122079311	122079311	A	G	ORAI1	c.668A>G	NM_032790.3	NP_116179.2:p.(Asn223Ser)	NC_000012.11:g.122079311A>G	(Likely) benign	2 labs	09aa2fc94f
14:23897920 MYH7 TG>T	14	23897920	23897921	TG	T	MYH7	c.1408-42del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23897921del	(Likely) benign	2 labs	09b940681c
7:128494106 FLNC C>T	7	128494106	128494106	C	T	FLNC	c.6563C>T	NM_001458.5	NP_001449.3:p.(Thr2188Met)	NC_000007.13:g.128494106C>T	VUS	2 labs	09b30d0715
2:228175629 COL4A3 C>T	2	228175629	228175629	C	T	COL4A3	c.4893C>T	NM_000091.4	NP_000082.2:p.(Phe1631=)	NC_000002.11:g.228175629C>T	(Likely) benign	2 labs	09be012363
9:131670814 LRRC8A C>T	9	131670814	131670814	C	T	LRRC8A	c.1371C>T	NM_001127244.1	NP_001120716.1:p.(Pro457=)	NC_000009.11:g.131670814C>T	(Likely) benign	2 labs	09cebfc52d
3:8775562 CAV3 G>A	3	8775562	8775562	G	A	CAV3	c.-1G>A	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8775562G>A	(Likely) benign	2 labs	1dbbda6dc3
13:25481285 CPAP A>C	13	25481285	25481285	A	C	CPAP	c.1021T>G	NM_018451.4	NP_060921.3:p.(Tyr341Asp)	NC_000013.10:g.25481285A>C	VUS	2 labs	09d4b88254
15:63354462 TPM1 G>A	15	63354462	63354462	G	A	TPM1	c.688G>A	NM_001018005.2	NP_001018005.1:p.(Asp230Asn)	NC_000015.9:g.63354462G>A	(Likely) pathogenic	2 labs	e11b9a6704
2:48033342 MSH6 G>A	2	48033342	48033342	G	A	MSH6	c.3647-1G>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033342G>A	(Likely) pathogenic	2 labs	e122277f4a
X:119694345 CUL4B TTACTGCTGC>T	X	119694345	119694364	TTACTGCTGC	T	CUL4B	c.140_148del	NM_001079872.2	NP_001073341.1:p.(Ser47_Ser49del)	NC_000023.10:g.119694356_119694364del	(Likely) benign	2 labs	09ddffd9c0
12:49418440 KMT2D G>T	12	49418440	49418440	G	T	KMT2D	c.15973C>A	NM_003482.3	NP_003473.3:p.(Pro5325Thr)	NC_000012.11:g.49418440G>T	VUS	2 labs	09df1d11c9
16:53679821 RPGRIP1L T>G	16	53679821	53679821	T	G	RPGRIP1L	c.2399A>C	NM_015272.4	NP_056087.2:p.(Asn800Thr)	NC_000016.9:g.53679821T>G	(Likely) benign	2 labs	09df46c150
X:27998106 DCAF8L1 C>T	X	27998106	27998106	C	T	DCAF8L1	c.1346G>A	NM_001017930.1	NP_001017930.1:p.(Arg449Gln)	NC_000023.10:g.27998106C>T	(Likely) benign	2 labs	09e1ecffc9
11:615100 IRF7 G>A	11	615100	615100	G	A	IRF7	c.219C>T	NM_004031.3	NP_004022.2:p.(Phe73=)	NC_000011.9:g.615100G>A	(Likely) benign	2 labs	09e3a3f0bc
13:110835460 COL4A1 C>T	13	110835460	110835460	C	T	COL4A1	c.1991-16G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110835460C>T	(Likely) benign	3 labs	09da5573d0
9:139410064 NOTCH1 G>A	9	139410064	139410064	G	A	NOTCH1	c.1774C>T	NM_017617.5	NP_060087.3:p.(Arg592Cys)	NC_000009.11:g.139410064G>A	VUS	5 labs	09e962ef43
9:101518761 ANKS6 G>A	9	101518761	101518761	G	A	ANKS6	c.2267C>T	NM_173551.5	NP_775822.3:p.(Ser756Leu)	NC_000009.11:g.101518761G>A	VUS	2 labs	09f3359976
2:62066927 FAM161A A>G	2	62066927	62066927	A	G	FAM161A	c.1212T>C	NM_001201543.2	NP_001188472.1:p.(Cys404=)	NC_000002.11:g.62066927A>G	(Likely) benign	3 labs	e12292f347
17:79479389 ACTG1 G>A	17	79479389	79479389	G	A	ACTG1	c.-6-3C>T	NM_001199954.3	NP_001186883.1:p.?	NC_000017.10:g.79479389G>A	(Likely) benign	3 labs	09e9b74a45
9:101552442 ANKS6 T>C	9	101552442	101552442	T	C	ANKS6	c.806A>G	NM_173551.4	NP_775822.3:p.(Lys269Arg)	NC_000009.11:g.101552442T>C	(Likely) benign	2 labs	09f373ea78
X:15315774 ASB11 GTTAA>G	X	15315774	15315780	GTTAA	G	ASB11	c.287_290del	NM_080873.3	NP_543149.1:p.(Ile96ThrfsTer31)	NC_000023.10:g.15315777_15315780del	VUS	2 labs	09f48236da
2:179623826 TTN T>C	2	179623826	179623826	T	C	TTN	c.10188A>G	NM_001267550.2	NP_001254479.2:p.(Glu3396=)	NC_000002.11:g.179623826T>C	(Likely) benign	5 labs	09fbf99969
17:41251844 BRCA1 CAG>C	17	41251844	41251848	CAG	C	BRCA1	c.493_494del	NM_007294.4	NP_009225.1:p.(Leu165GlufsTer16)	NC_000017.10:g.41251847_41251848del	(Likely) pathogenic	2 labs	0a0ea4f81b
17:18052097 MYO15A G>A	17	18052097	18052097	G	A	MYO15A	c.6787G>A	NM_016239.3	NP_057323.3:p.(Gly2263Ser)	NC_000017.10:g.18052097G>A	(Likely) pathogenic	2 labs	0a0890cbf4
13:111160424 COL4A2 C>T	13	111160424	111160424	C	T	COL4A2	c.4737C>T	NM_001846.3	NP_001837.2:p.(Ala1579=)	NC_000013.10:g.111160424C>T	(Likely) benign	2 labs	0a0bc7e058
7:87082292 ABCB4 G>A	7	87082292	87082292	G	A	ABCB4	c.504C>T	NM_018849.3	NP_061337.1:p.(Asn168=)	NC_000007.13:g.87082292G>A	(Likely) benign	2 labs	e1285f53de
2:179473035 TTN A>G	2	179473035	179473035	A	G	TTN	c.52575T>C	NM_001267550.1	NP_001254479.1:p.(Asn17525=)	NC_000002.11:g.179473035A>G	(Likely) benign	2 labs	0a14d533fc
14:23901855 MYH7 C>T	14	23901855	23901855	C	T	MYH7	c.495G>A	NM_000257.2	NP_000248.2:p.(Met165Ile)	NC_000014.8:g.23901855C>T	(Likely) pathogenic	2 labs	0a1a0278c1
17:41246482 BRCA1 G>A	17	41246482	41246482	G	A	BRCA1	c.1066C>T	NM_007294.4	NP_009225.1:p.(Gln356Ter)	NC_000017.10:g.41246482G>A	(Likely) pathogenic	4 labs	e132f8d4d2
1:197074167 ASPM C>T	1	197074167	197074167	C	T	ASPM	c.4214G>A	NM_018136.4	NP_060606.3:p.(Arg1405His)	NC_000001.10:g.197074167C>T	VUS	2 labs	0a232cb081
16:51173559 SALL1 G>A	16	51173559	51173559	G	A	SALL1	c.2283C>T	NM_001127892.2	NP_001121364.1:p.(Leu761=)	NC_000016.9:g.51173559G>A	(Likely) benign	4 labs	0a26014e7e
6:70976439 COL9A1 G>T	6	70976439	70976439	G	T	COL9A1	c.1322C>A	NM_001851.4	NP_001842.3:p.(Pro441Gln)	NC_000006.11:g.70976439G>T	VUS	2 labs	0a27e2498d
14:88892899 SPATA7 CTT>C	14	88892899	88892903	CTT	C	SPATA7	c.699_700del	NM_018418.5	NP_060888.2:p.(Ser234Ter)	NC_000014.8:g.88892902_88892903del	(Likely) pathogenic	2 labs	0a2f75727d
4:170483049 NEK1 T>TA	4	170483049	170483057	T	TA	NEK1	c.1081-8dup	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170483057dup	(Likely) benign	3 labs	0a2e5c6a86
16:75579233 TMEM231 A>T	16	75579233	75579233	A	T	TMEM231	c.741+17T>A	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75579233A>T	(Likely) benign	2 labs	e13a1518f2
6:157505418 ARID1B C>T	6	157505418	157505418	C	T	ARID1B	c.3648C>T	NM_001371656.1	NP_001358585.1:p.(Thr1216=)	NC_000006.11:g.157505418C>T	(Likely) benign	3 labs	0a3adf8343
X:147733650 AFF2 T>C	X	147733650	147733650	T	C	AFF2	c.178T>C	NM_002025.4	NP_002016.2:p.(Tyr60His)	NC_000023.10:g.147733650T>C	VUS	2 labs	0a4a77e1cf
10:48389841 RBP3 C>T	10	48389841	48389841	C	T	RBP3	c.1037G>A	NM_002900.2	NP_002891.1:p.(Arg346His)	NC_000010.10:g.48389841C>T	(Likely) benign	2 labs	0a3f490e45
2:179506001 TTN G>A	2	179506001	179506001	G	A	TTN	c.40600C>T	NM_001267550.1	NP_001254479.1:p.(Pro13534Ser)	NC_000002.11:g.179506001G>A	VUS	2 labs	0a4a2b3a03
6:152532664 SYNE1 C>T	6	152532664	152532664	C	T	SYNE1	c.22554G>A	NM_182961.3	NP_892006.3:p.(Gly7518=)	NC_000006.11:g.152532664C>T	(Likely) benign	2 labs	0a4b53f549
10:104158210 NFKB2 G>A	10	104158210	104158210	G	A	NFKB2	c.921G>A	NM_001288724.1	NP_001275653.1:p.(Leu307=)	NC_000010.10:g.104158210G>A	(Likely) benign	2 labs	0a4e558693
19:49468597 FTL G>A	19	49468597	49468597	G	A	FTL	c.-168G>A	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468597G>A	(Likely) pathogenic	2 labs	0a57622dc7
18:20548849 RBBP8 G>A	18	20548849	20548849	G	A	RBBP8	c.329G>A	NM_002894.2	NP_002885.1:p.(Arg110Gln)	NC_000018.9:g.20548849G>A	VUS	2 labs	0a5b289822
1:985958 AGRN G>T	1	985958	985958	G	T	AGRN				NC_000001.10:g.985958G>T	VUS	2 labs	0a5fb46015
2:179397097 TTN G>A	2	179397097	179397097	G	A	TTN	c.104245C>T	NM_001267550.1	NP_001254479.1:p.(Arg34749Trp)	NC_000002.11:g.179397097G>A	VUS	2 labs	0a630605a7
1:155208310 GBA1 T>G	1	155208310	155208310	T	G	GBA1	c.586A>C	NM_001005741.3	NP_001005741.1:p.(Lys196Gln)	NC_000001.10:g.155208310T>G	VUS	3 labs	0a69fef4d3
10:124348723 DMBT1 A>C	10	124348723	124348723	A	C	DMBT1	c.2047A>C	NM_007329.2	NP_015568.2:p.(Asn683His)	NC_000010.10:g.124348723A>C	(Likely) benign	2 labs	0a6d904f37
19:55672784 DNAAF3 A>G	19	55672784	55672784	A	G	DNAAF3	c.504T>C	NM_001256716.2	NP_001243645.1:p.(Ala168=)	NC_000019.9:g.55672784A>G	(Likely) benign	2 labs	0a6fe867f7
22:32218692 DEPDC5 C>T	22	32218692	32218692	C	T	DEPDC5	c.2020C>T	NM_001242896.3	NP_001229825.1:p.(Arg674Cys)	NC_000022.10:g.32218692C>T	(Likely) benign	3 labs	e145574fa2
1:207642050 CR2 C>A	1	207642050	207642050	C	A	CR2	c.624C>A	NM_001006658.2	NP_001006659.1:p.(Pro208=)	NC_000001.10:g.207642050C>A	(Likely) benign	2 labs	0a76b9eab9
1:242016703 EXO1 G>A	1	242016703	242016703	G	A	EXO1	c.325G>A	NM_130398.3	NP_569082.2:p.(Glu109Lys)	NC_000001.10:g.242016703G>A	VUS	2 labs	0a7aa369ac
3:189838136 P3H2 C>A	3	189838136	189838136	C	A	P3H2	c.385G>T	NM_018192.4	NP_060662.2:p.(Gly129Trp)	NC_000003.11:g.189838136C>A	VUS	2 labs	0a7f0e7504
4:122749541 BBS7 C>T	4	122749541	122749541	C	T	BBS7	c.1890+16G>A	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122749541C>T	(Likely) benign	2 labs	0a84930792
10:26357820 MYO3A C>T	10	26357820	26357820	C	T	MYO3A	c.1170+7C>T	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26357820C>T	(Likely) benign	2 labs	e14abf7a07
X:48760016 PQBP1 C>T	X	48760016	48760016	C	T	PQBP1	c.585C>T	NM_005710.2	NP_005701.1:p.(Ser195=)	NC_000023.10:g.48760016C>T	(Likely) benign	2 labs	0a815eef51
11:18418515 LDHA GGTAA>G	11	18418515	18418521	GGTAA	G	LDHA	c.126+3_126+6del	NM_005566.4	NP_005557.1:p.?	NC_000011.9:g.18418518_18418521del	VUS	2 labs	0a83a3ab1a
9:421032 DOCK8 C>G	9	421032	421032	C	G	DOCK8	c.4107C>G	NM_203447.4	NP_982272.2:p.(Leu1369=)	NC_000009.11:g.421032C>G	(Likely) benign	2 labs	e14e1727ca
X:132888182 GPC3 C>T	X	132888182	132888182	C	T	GPC3	c.359G>A	NM_001164617.1	NP_001158089.1:p.(Arg120His)	NC_000023.10:g.132888182C>T	(Likely) benign	2 labs	0a870da2b9
10:88439177 LDB3 G>A	10	88439177	88439177	G	A	LDB3	c.147G>A	NM_001171610.2	NP_001165081.1:p.(Val49=)	NC_000010.10:g.88439177G>A	(Likely) benign	5 labs	e14f88ffce
3:48610667 COL7A1 G>C	3	48610667	48610667	G	C	COL7A1	c.6654C>G	NM_000094.4	NP_000085.1:p.(Gly2218=)	NC_000003.11:g.48610667G>C	(Likely) benign	2 labs	0a9040decb
3:134267991 CEP63 C>A	3	134267991	134267991	C	A	CEP63	c.1155C>A	NM_025180.4	NP_079456.2:p.(Asn385Lys)	NC_000003.11:g.134267991C>A	(Likely) benign	2 labs	0a91410968
8:55538422 RP1 T>A	8	55538422	55538422	T	A	RP1	c.1980T>A	NM_006269.2	NP_006260.1:p.(Asn660Lys)	NC_000008.10:g.55538422T>A	VUS	3 labs	0a96cfb476
2:27150268 DPYSL5 G>A	2	27150268	27150268	G	A	DPYSL5	c.568G>A	NM_020134.4	NP_064519.2:p.(Val190Ile)	NC_000002.11:g.27150268G>A	(Likely) benign	2 labs	e15835d1e5
5:89923208 ADGRV1 C>G	5	89923208	89923208	C	G	ADGRV1	c.853C>G	NM_032119.4	NP_115495.3:p.(Arg285Gly)	NC_000005.9:g.89923208C>G	VUS	2 labs	0ab9853f44
10:90982268 LIPA C>T	10	90982268	90982268	C	T	LIPA	c.894G>A	NM_000235.4	NP_000226.2:p.(Gln298=)	NC_000010.10:g.90982268C>T	(Likely) pathogenic	6 labs	0ad1ba7d69
19:33792919 CEBPA C>T	19	33792919	33792919	C	T	CEBPA	c.402G>A	NM_004364.5	NP_004355.2:p.(Ala134=)	NC_000019.9:g.33792919C>T	(Likely) benign	4 labs	0ad9927720
9:139399941 NOTCH1 G>A	9	139399941	139399941	G	A	NOTCH1	c.4407C>T	NM_017617.5	NP_060087.3:p.(Asn1469=)	NC_000009.11:g.139399941G>A	(Likely) benign	2 labs	0ae5660333
2:211481257 CPS1 C>G	2	211481257	211481257	C	G	CPS1	c.2679C>G	NM_001875.5	NP_001866.2:p.(Gly893=)	NC_000002.11:g.211481257C>G	(Likely) benign	4 labs	0ae83aaecf
16:3299446 MEFV G>A	16	3299446	3299446	G	A	MEFV	c.1245C>T	NM_000243.2	NP_000234.1:p.(Val415=)	NC_000016.9:g.3299446G>A	(Likely) benign	2 labs	0aecea1b52
2:179413199 TTN C>T	2	179413199	179413199	C	T	TTN	c.93154G>A	NM_001267550.1	NP_001254479.1:p.(Val31052Met)	NC_000002.11:g.179413199C>T	VUS	3 labs	0af2070898
11:792616 SLC25A22 C>T	11	792616	792616	C	T	SLC25A22	c.524G>A	NM_001191060.1	NP_001177989.1:p.(Arg175His)	NC_000011.9:g.792616C>T	VUS	2 labs	0b067419f9
2:74141962 ACTG2 C>T	2	74141962	74141962	C	T	ACTG2	c.769C>T	NM_001615.3	NP_001606.1:p.(Arg257Cys)	NC_000002.11:g.74141962C>T	(Likely) pathogenic	2 labs	0b0aca72d8
8:143998588 CYP11B2 C>T	8	143998588	143998588	C	T	CYP11B2	c.282G>A	NM_000498.3	NP_000489.3:p.(Pro94=)	NC_000008.10:g.143998588C>T	(Likely) benign	2 labs	0b0cbfb466
4:6302670 WFS1 G>A	4	6302670	6302670	G	A	WFS1	c.1148G>A	NM_006005.3	NP_005996.2:p.(Arg383His)	NC_000004.11:g.6302670G>A	(Likely) benign	2 labs	0b139b9ac0
16:88786467 PIEZO1 G>A	16	88786467	88786467	G	A	PIEZO1	c.6164+10C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88786467G>A	(Likely) benign	2 labs	0b17a39592
21:34652167 IL10RB G>A	21	34652167	34652167	G	A	IL10RB				NC_000021.8:g.34652167G>A	(Likely) benign	2 labs	0b18dd32dc
14:21762845 RPGRIP1 T>A	14	21762845	21762845	T	A	RPGRIP1	c.95T>A	NM_020366.4	NP_065099.3:p.(Met32Lys)	NC_000014.8:g.21762845T>A	(Likely) benign	3 labs	0b18456aa2
14:23861811 MYH6 A>G	14	23861811	23861811	A	G	MYH6	c.3302T>C	NM_002471.4	NP_002462.2:p.(Val1101Ala)	NC_000014.8:g.23861811A>G	(Likely) benign	4 labs	e1793aa52c
15:90191827 KIF7 T>C	15	90191827	90191827	T	C	KIF7	c.1102A>G	NM_198525.3	NP_940927.2:p.(Thr368Ala)	NC_000015.9:g.90191827T>C	(Likely) benign	5 labs	e17a3ebd2d
12:48369250 COL2A1 C>T	12	48369250	48369250	C	T	COL2A1	c.3736G>A	NM_001844.4	NP_001835.3:p.(Gly1246Ser)	NC_000012.11:g.48369250C>T	(Likely) benign	2 labs	0b2e3dfb56
12:52100334 SCN8A A>G	12	52100334	52100334	A	G	SCN8A	c.1470A>G	NM_001330260.1	NP_001317189.1:p.(Glu490=)	NC_000012.11:g.52100334A>G	(Likely) benign	2 labs	0b342abfc8
3:129247551 RHO A>G	3	129247551	129247551	A	G	RHO	c.-26A>G	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129247551A>G	(Likely) benign	2 labs	0b3d7d2e07
2:20135283 WDR35 T>C	2	20135283	20135283	T	C	WDR35	c.2529A>G	NM_001006657.1	NP_001006658.1:p.(Glu843=)	NC_000002.11:g.20135283T>C	(Likely) benign	2 labs	0b3ebce382
10:112572458 RBM20 G>T	10	112572458	112572458	G	T	RBM20	c.2303C>T	NM_001134363.3	NP_001127835.2:p.(Ser768Leu)	NC_000010.10:g.112572458G>T	(Likely) benign	3 labs	0b3601efee
12:33003918 PKP2 A>G	12	33003918	33003918	A	G	PKP2	c.1171-11T>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003918A>G	(Likely) benign	5 labs	0b459aaacf
9:101552590 ANKS6 C>T	9	101552590	101552590	C	T	ANKS6	c.658G>A	NM_173551.4	NP_775822.3:p.(Ala220Thr)	NC_000009.11:g.101552590C>T	(Likely) benign	2 labs	0b4154f41b
20:10633097 JAG1 T>A	20	10633097	10633097	T	A	JAG1	c.886+19A>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10633097T>A	(Likely) benign	3 labs	e180094acc
7:1515892 INTS1 G>T	7	1515892	1515892	G	T	INTS1	c.5351C>A	NM_001080453.3	NP_001073922.2:p.(Ser1784Ter)	NC_000007.13:g.1515892G>T	(Likely) pathogenic	3 labs	0b4c42a2e4
2:179462301 TTN C>A	2	179462301	179462301	C	A	TTN	c.57508G>T	NM_001267550.2	NP_001254479.2:p.(Gly19170Ter)	NC_000002.11:g.179462301C>A	(Likely) pathogenic	2 labs	e181a266b4
4:79428622 FRAS1 C>T	4	79428622	79428622	C	T	FRAS1	c.9364C>T	NM_025074.7	NP_079350.5:p.(Arg3122Trp)	NC_000004.11:g.79428622C>T	VUS	3 labs	0b54c9f430
19:14863219 ADGRE2 TGAGGTGCTGGTGTTCTG>T	19	14863219	14863238	TGAGGTGCTGGTGTTCTG	T	ADGRE2	c.1693_1709del	NM_013447.4	NP_038475.2:p.(Gln565ThrfsTer21)	NC_000019.9:g.14863222_14863238del	(Likely) benign	2 labs	0b5862edd0
16:2160673 PKD1 G>A	16	2160673	2160673	G	A	PKD1	c.4495C>T	NM_001009944.2	NP_001009944.2:p.(Leu1499=)	NC_000016.9:g.2160673G>A	(Likely) benign	3 labs	0b588134fc
8:100133706 VPS13B T>G	8	100133706	100133706	T	G	VPS13B	c.1239T>G	NM_181661.3	NP_858047.2:p.(Tyr413Ter)	NC_000008.10:g.100133706T>G	(Likely) benign	3 labs	0b6625af5b
10:69933921 MYPN G>A	10	69933921	69933921	G	A	MYPN	c.2072G>A	NM_032578.4	NP_115967.2:p.(Ser691Asn)	NC_000010.10:g.69933921G>A	(Likely) benign	3 labs	e184fde193
17:41246489 BRCA1 C>T	17	41246489	41246489	C	T	BRCA1	c.1059G>A	NM_007294.3	NP_009225.1:p.(Trp353Ter)	NC_000017.10:g.41246489C>T	(Likely) pathogenic	3 labs	0b6c7a3348
12:49435199 KMT2D G>A	12	49435199	49435199	G	A	KMT2D	c.6354C>T	NM_003482.3	NP_003473.3:p.(Pro2118=)	NC_000012.11:g.49435199G>A	(Likely) benign	2 labs	0b6eef59aa
17:46804322 HOXB13 G>A	17	46804322	46804322	G	A	HOXB13	c.685C>T	NM_006361.5	NP_006352.2:p.(Arg229Trp)	NC_000017.10:g.46804322G>A	VUS	2 labs	0b7af08733
16:2149738 PKD1 G>A	16	2149738	2149738	G	A	PKD1	c.9957C>T	NM_001009944.2	NP_001009944.2:p.(Ser3319=)	NC_000016.9:g.2149738G>A	(Likely) benign	3 labs	0b859358bf
6:129513837 LAMA2 A>G	6	129513837	129513837	A	G	LAMA2	c.1621A>G	NM_000426.3	NP_000417.2:p.(Ser541Gly)	NC_000006.11:g.129513837A>G	(Likely) benign	2 labs	0b8f62021d
20:42744818 JPH2 G>T	20	42744818	42744818	G	T	JPH2	c.1497C>A	NM_020433.5	NP_065166.2:p.(Pro499=)	NC_000020.10:g.42744818G>T	(Likely) benign	3 labs	0b86355420
12:94761875 CEP83 T>C	12	94761875	94761875	T	C	CEP83	c.1151A>G	NM_016122.2	NP_057206.2:p.(Lys384Arg)	NC_000012.11:g.94761875T>C	(Likely) benign	2 labs	0b91e766d7
10:73550969 CDH23 G>A	10	73550969	73550969	G	A	CDH23	c.6130G>A	NM_022124.5	NP_071407.4:p.(Glu2044Lys)	NC_000010.10:g.73550969G>A	(Likely) benign	2 labs	0b92955e43
17:29663499 NF1 C>G	17	29663499	29663499	C	G	NF1	c.6084+8C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663499C>G	(Likely) benign	4 labs	e18c4c59f9
17:61791457 STRADA C>T	17	61791457	61791457	C	T	STRADA	c.135G>A	NM_001003787.3	NP_001003787.1:p.(Ala45=)	NC_000017.10:g.61791457C>T	(Likely) benign	2 labs	0b989431b1
16:2142083 PKD1 C>G	16	2142083	2142083	C	G	PKD1	c.11376G>C	NM_001009944.2	NP_001009944.2:p.(Ser3792=)	NC_000016.9:g.2142083C>G	(Likely) benign	2 labs	0b9c476a38
17:39913688 JUP A>G	17	39913688	39913688	A	G	JUP	c.2025T>C	NM_002230.4	NP_002221.1:p.(His675=)	NC_000017.10:g.39913688A>G	(Likely) benign	4 labs	0b9d2cb5e1
1:215847813 USH2A C>T	1	215847813	215847813	C	T	USH2A	c.13440G>A	NM_206933.2	NP_996816.2:p.(Arg4480=)	NC_000001.10:g.215847813C>T	(Likely) benign	2 labs	0bad56e3e4
16:57950041 CNGB1 G>A	16	57950041	57950041	G	A	CNGB1	c.2209C>T	NM_001297.4	NP_001288.3:p.(Arg737Cys)	NC_000016.9:g.57950041G>A	VUS	2 labs	0bafa237e5
14:23896955 MYH7 T>C	14	23896955	23896955	T	C	MYH7	c.1727A>G	NM_000257.4	NP_000248.2:p.(His576Arg)	NC_000014.8:g.23896955T>C	(Likely) pathogenic	4 labs	e18c6fa8e3
X:153135913 L1CAM T>C	X	153135913	153135913	T	C	L1CAM	c.736A>G	NM_000425.5	NP_000416.1:p.(Thr246Ala)	NC_000023.10:g.153135913T>C	(Likely) benign	2 labs	0bbf05850f
18:29116284 DSG2 G>A	18	29116284	29116284	G	A	DSG2	c.1543G>A	NM_001943.5	NP_001934.2:p.(Val515Ile)	NC_000018.9:g.29116284G>A	(Likely) benign	4 labs	0bb72c8cff
10:54531204 MBL2 C>T	10	54531204	54531204	C	T	MBL2	c.187+5G>A	NM_000242.2	NP_000233.1:p.?	NC_000010.10:g.54531204C>T	(Likely) benign	2 labs	0bca51909b
1:152284576 FLG C>A	1	152284576	152284576	C	A	FLG	c.2786G>T	NM_002016.1	NP_002007.1:p.(Gly929Val)	NC_000001.10:g.152284576C>A	(Likely) benign	2 labs	0bcdea362b
17:78187614 SGSH C>T	17	78187614	78187614	C	T	SGSH	c.734G>A	NM_000199.5	NP_000190.1:p.(Arg245His)	NC_000017.10:g.78187614C>T	(Likely) pathogenic	4 labs	0bd1b4b0fb
22:37539638 IL2RB G>A	22	37539638	37539638	G	A	IL2RB	c.126C>T	NM_001346222.1	NP_001333151.1:p.(Ala42=)	NC_000022.10:g.37539638G>A	(Likely) benign	2 labs	0bd3cb90f1
20:61460340 COL9A3 G>C	20	61460340	61460340	G	C	COL9A3	c.1008+12G>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61460340G>C	(Likely) benign	2 labs	0bd1fc700c
22:42322155 TNFRSF13C C>T	22	42322155	42322155	C	T	TNFRSF13C	c.317G>A	NM_052945.3	NP_443177.1:p.(Arg106Gln)	NC_000022.10:g.42322155C>T	(Likely) benign	2 labs	0bd783161c
21:47787002 PCNT T>C	21	47787002	47787002	T	C	PCNT	c.3113T>C	NM_006031.6	NP_006022.3:p.(Val1038Ala)	NC_000021.8:g.47787002T>C	(Likely) benign	2 labs	0bd9259bfa
16:14540868 PARN C>T	16	14540868	14540868	C	T	PARN	c.1741G>A	NM_002582.4	NP_002573.1:p.(Gly581Arg)	NC_000016.9:g.14540868C>T	(Likely) benign	2 labs	0be1b06295
7:128492929 FLNC C>T	7	128492929	128492929	C	T	FLNC	c.6052C>T	NM_001458.5	NP_001449.3:p.(Arg2018Cys)	NC_000007.13:g.128492929C>T	VUS	2 labs	0be93e0564
6:65300869 EYS G>A	6	65300869	65300869	G	A	EYS	c.4891C>T	NM_001292009.1	NP_001278938.1:p.(Pro1631Ser)	NC_000006.11:g.65300869G>A	(Likely) benign	2 labs	0bfbdecbc9
11:9168594 DENND5A T>C	11	9168594	9168594	T	C	DENND5A	c.2840A>G	NM_015213.4	NP_056028.2:p.(Asn947Ser)	NC_000011.9:g.9168594T>C	VUS	2 labs	0c017ef1cc
1:94502896 ABCA4 AT>A	1	94502896	94502899	AT	A	ABCA4	c.3617del	NM_000350.3	NP_000341.2:p.(Asn1206MetfsTer3)	NC_000001.10:g.94502899del	(Likely) pathogenic	2 labs	0c01267fa4
9:21971040 CDKN2A C>T	9	21971040	21971040	C	T	CDKN2A	c.361G>A	NM_058195.4	NP_478102.2:p.(Ala121Thr)	NC_000009.11:g.21971040C>T	(Likely) benign	6 labs	e19efe795b
2:179566899 TTN C>T	2	179566899	179566899	C	T	TTN	c.30507G>A	NM_001267550.1	NP_001254479.1:p.(Thr10169=)	NC_000002.11:g.179566899C>T	(Likely) benign	2 labs	0c06545fe3
20:62312070 RTEL1 C>G	20	62312070	62312070	C	G	RTEL1	c.1189C>G	NM_001283009.1	NP_001269938.1:p.(Gln397Glu)	NC_000020.10:g.62312070C>G	(Likely) benign	2 labs	0c0b5f1982
10:69299344 CTNNA3 G>A	10	69299344	69299344	G	A	CTNNA3	c.376C>T	NM_013266.4	NP_037398.2:p.(Arg126Cys)	NC_000010.10:g.69299344G>A	VUS	2 labs	0c1439114c
2:179635959 TTN A>C	2	179635959	179635959	A	C	TTN	c.8095T>G	NM_001267550.1	NP_001254479.1:p.(Ser2699Ala)	NC_000002.11:g.179635959A>C	VUS	2 labs	0c12663c90
2:179629374 TTN C>G	2	179629374	179629374	C	G	TTN	c.9868G>C	NM_001267550.2	NP_001254479.2:p.(Asp3290His)	NC_000002.11:g.179629374C>G	VUS	2 labs	e1a0324d42
X:107404864 COL4A6 G>A	X	107404864	107404864	G	A	COL4A6	c.4321C>T	NM_001847.4	NP_001838.2:p.(Pro1441Ser)	NC_000023.10:g.107404864G>A	VUS	2 labs	0c177065f2
15:73615633 HCN4 C>T	15	73615633	73615633	C	T	HCN4	c.2801G>A	NM_005477.3	NP_005468.1:p.(Arg934His)	NC_000015.9:g.73615633C>T	VUS	2 labs	e1a0a0ccc6
20:42788803 JPH2 G>C	20	42788803	42788803	G	C	JPH2	c.624C>G	NM_020433.5	NP_065166.2:p.(Ala208=)	NC_000020.10:g.42788803G>C	(Likely) benign	5 labs	e1a49f0b4b
6:33147579 COL11A2 G>A	6	33147579	33147579	G	A	COL11A2	c.1363C>T	NM_080680.2	NP_542411.2:p.(Arg455Trp)	NC_000006.11:g.33147579G>A	VUS	2 labs	0c264bce3a
12:109536350 UNG G>C	12	109536350	109536350	G	C	UNG	c.219G>C	NM_003362.3	NP_003353.1:p.(Leu73=)	NC_000012.11:g.109536350G>C	(Likely) benign	2 labs	0c2a333620
13:78492734 EDNRB C>T	13	78492734	78492734	C	T	EDNRB	c.245G>A	NM_001201397.1	NP_001188326.1:p.(Arg82Gln)	NC_000013.10:g.78492734C>T	(Likely) benign	2 labs	0c2d2bbd82
X:37061389 FTHL18P C>A	X	37061389	37061389	C	A	FTHL18P	c.373G>T	NM_001271682.1	NP_001258611.1:p.(Gly125Trp)	NC_000023.10:g.37061389C>A	VUS	2 labs	0c32718a66
10:75394401 MYOZ1 C>T	10	75394401	75394401	C	T	MYOZ1	c.343G>A	NM_021245.3	NP_067068.1:p.(Gly115Ser)	NC_000010.10:g.75394401C>T	(Likely) benign	2 labs	0c47625bc6
3:58139224 FLNB G>A	3	58139224	58139224	G	A	FLNB	c.6490G>A	NM_001457.4	NP_001448.2:p.(Val2164Met)	NC_000003.11:g.58139224G>A	VUS	2 labs	0c48c6ffe0
18:29100771 DSG2 T>C	18	29100771	29100771	T	C	DSG2	c.222T>C	NM_001943.5	NP_001934.2:p.(His74=)	NC_000018.9:g.29100771T>C	(Likely) benign	5 labs	0c500761cc
7:94227275 SGCE C>T	7	94227275	94227275	C	T	SGCE	c.1295G>A	NM_001099401.2	NP_001092871.1:p.(Ser432Asn)	NC_000007.13:g.94227275C>T	(Likely) benign	3 labs	e1b59fa895
16:2134270 TSC2 G>A	16	2134270	2134270	G	A	TSC2	c.4047G>A	NM_000548.3	NP_000539.2:p.(Ala1349=)	NC_000016.9:g.2134270G>A	(Likely) benign	2 labs	0c5e84e957
4:126238865 FAT4 C>G	4	126238865	126238865	C	G	FAT4	c.1299C>G	NM_001291303.1	NP_001278232.1:p.(Ser433=)	NC_000004.11:g.126238865C>G	(Likely) benign	3 labs	0c69cd04d2
13:73347956 DIS3 T>C	13	73347956	73347956	T	C	DIS3	c.1105A>G	NM_014953.5	NP_055768.3:p.(Arg369Gly)	NC_000013.10:g.73347956T>C	VUS	2 labs	0c78501b78
14:23876390 MYH6 A>G	14	23876390	23876390	A	G	MYH6	c.43T>C	NM_002471.4	NP_002462.2:p.(Tyr15His)	NC_000014.8:g.23876390A>G	VUS	3 labs	e1c2731aba
22:27003957 CRYBB1 G>A	22	27003957	27003957	G	A	CRYBB1	c.328C>T	NM_001887.4	NP_001878.1:p.(Arg110Cys)	NC_000022.10:g.27003957G>A	(Likely) benign	2 labs	0c7dc0d77c
21:47821583 PCNT C>T	21	47821583	47821583	C	T	PCNT	c.4910C>T	NM_006031.5	NP_006022.3:p.(Pro1637Leu)	NC_000021.8:g.47821583C>T	(Likely) benign	2 labs	0c7f47610b
X:47919181 ZNF630 G>A	X	47919181	47919181	G	A	ZNF630	c.650C>T	NM_001282201.1	NP_001269130.1:p.(Ala217Val)	NC_000023.10:g.47919181G>A	(Likely) benign	2 labs	0c82f92f93
17:29653239 NF1 TAG>AA	17	29653239	29653241	TAG	AA	NF1	c.5174_5176delinsAA	NM_000267.3	NP_000258.1:p.(Leu1725GlnfsTer19)	NC_000017.10:g.29653239_29653241delinsAA	(Likely) pathogenic	2 labs	0c840f28d3
1:235971744 LYST C>CA	1	235971744	235971745	C	CA	LYST	c.2363+10dup	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235971745dup	(Likely) benign	3 labs	0c874019a5
11:36615705 RAG2 A>T	11	36615705	36615705	A	T	RAG2	c.14T>A	NM_000536.4	NP_000527.2:p.(Met5Lys)	NC_000011.9:g.36615705A>T	VUS	2 labs	0c8dc63842
1:235892961 LYST T>C	1	235892961	235892961	T	C	LYST	c.9045-4A>G	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235892961T>C	(Likely) benign	3 labs	0c948cc15d
22:20780091 SCARF2 C>G	22	20780091	20780091	C	G	SCARF2	c.2187=	NM_153334.7	NP_699165.3:p.(Pro729=)	NC_000022.10:g.20780091C>G	(Likely) benign	3 labs	e1c9822c18
8:11607693 GATA4 C>T	8	11607693	11607693	C	T	GATA4	c.857C>T	NM_002052.4	NP_002043.2:p.(Ala286Val)	NC_000008.10:g.11607693C>T	VUS	3 labs	0c8f2c590b
14:23859646 MYH6 C>T	14	23859646	23859646	C	T	MYH6	c.3352G>A	NM_002471.3	NP_002462.2:p.(Glu1118Lys)	NC_000014.8:g.23859646C>T	VUS	3 labs	0c918065b4
X:107917990 COL4A5 C>T	X	107917990	107917990	C	T	COL4A5	c.3808+7C>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107917990C>T	(Likely) benign	4 labs	0c9f440bc1
X:48935526 WDR45 C>T	X	48935526	48935526	C	T	WDR45	c.100G>A	NM_007075.4	NP_009006.2:p.(Val34Met)	NC_000023.10:g.48935526C>T	VUS	3 labs	0ca6158041
18:77474921 CTDP1 G>A	18	77474921	77474921	G	A	CTDP1	c.1461G>A	NM_004715.5	NP_004706.3:p.(Pro487=)	NC_000018.9:g.77474921G>A	(Likely) benign	2 labs	e1ccca530c
17:70119716 SOX9 A>C	17	70119716	70119716	A	C	SOX9	c.718A>C	NM_000346.3	NP_000337.1:p.(Thr240Pro)	NC_000017.10:g.70119716A>C	(Likely) benign	2 labs	0ca834a52e
10:97442435 TCTN3 C>T	10	97442435	97442435	C	T	TCTN3	c.1425G>A	NM_015631.5	NP_056446.4:p.(Arg475=)	NC_000010.10:g.97442435C>T	(Likely) benign	2 labs	0cab6872ef
X:76938747 ATRX C>T	X	76938747	76938747	C	T	ATRX	c.2001G>A	NM_000489.5	NP_000480.3:p.(Pro667=)	NC_000023.10:g.76938747C>T	(Likely) benign	2 labs	0cbfad950b
21:47858194 PCNT G>A	21	47858194	47858194	G	A	PCNT	c.9217G>A	NM_006031.5	NP_006022.3:p.(Val3073Met)	NC_000021.8:g.47858194G>A	VUS	2 labs	0cc01bf6a4
10:16955978 CUBN A>T	10	16955978	16955978	A	T	CUBN	c.7365T>A	NM_001081.4	NP_001072.2:p.(Asp2455Glu)	NC_000010.10:g.16955978A>T	(Likely) benign	3 labs	0cc45fc8b2
2:74326649 TET3 GAGA>G	2	74326649	74326661	GAGA	G	TET3	c.3524_3526del	NM_001287491.2	NP_001274420.1:p.(Lys1175del)	NC_000002.11:g.74326659_74326661del	VUS	2 labs	e1cf6f8527
17:41242969 BRCA1 T>C	17	41242969	41242969	T	C	BRCA1	c.4177A>G	NM_007294.4	NP_009225.1:p.(Thr1393Ala)	NC_000017.10:g.41242969T>C	(Likely) benign	2 labs	e1d2b14db7
15:100594142 ADAMTS17 ATCT>A	15	100594142	100594148	ATCT	A	ADAMTS17	c.2252_2254del	NM_139057.4	NP_620688.2:p.(Lys751del)	NC_000015.9:g.100594146_100594148del	VUS	2 labs	0ccd2478cd
13:32914635 BRCA2 A>T	13	32914635	32914635	A	T	BRCA2	c.6143A>T	NM_000059.4	NP_000050.3:p.(Asn2048Ile)	NC_000013.10:g.32914635A>T	(Likely) benign	3 labs	0cd264f3c8
11:130066452 ST14 G>GC	11	130066452	130066459	G	GC	ST14	c.1224-6dup	NM_021978.4	NP_068813.1:p.?	NC_000011.9:g.130066459dup	(Likely) benign	2 labs	0d14855aff
8:90958530 NBN T>C	8	90958530	90958530	T	C	NBN	c.1915-7A>G	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90958530T>C	(Likely) benign	3 labs	e1db43542f
16:15820797 MYH11 T>G	16	15820797	15820797	T	G	MYH11	c.3787A>C	NM_001040113.1	NP_001035202.1:p.(Lys1263Gln)	NC_000016.9:g.15820797T>G	VUS	2 labs	0ce825ab27
9:6595126 GLDC G>C	9	6595126	6595126	G	C	GLDC	c.1156-7C>G	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6595126G>C	(Likely) benign	4 labs	0cda8b932b
2:71185175 ATP6V1B1 G>C	2	71185175	71185175	G	C	ATP6V1B1	c.175-1G>C	NM_001692.4	NP_001683.2:p.?	NC_000002.11:g.71185175G>C	(Likely) pathogenic	3 labs	0ce64f6810
11:67771230 UNC93B1 C>T	11	67771230	67771230	C	T	UNC93B1	c.135G>A	NM_030930.2	NP_112192.2:p.(Glu45=)	NC_000011.9:g.67771230C>T	(Likely) benign	2 labs	0cf1d09d40
9:135801064 TSC1 C>T	9	135801064	135801064	C	T	TSC1	c.273G>A	NM_000368.5	NP_000359.1:p.(Ser91=)	NC_000009.11:g.135801064C>T	(Likely) benign	2 labs	e1dd9e81f3
14:103371608 TRAF3 C>T	14	103371608	103371608	C	T	TRAF3	c.1194C>T	NM_145725.2	NP_663777.1:p.(Arg398=)	NC_000014.8:g.103371608C>T	(Likely) benign	2 labs	0cfd9ffe85
17:5424973 NLRP1 G>T	17	5424973	5424973	G	T	NLRP1	c.3654C>A	NM_033004.4	NP_127497.1:p.(Leu1218=)	NC_000017.10:g.5424973G>T	(Likely) benign	2 labs	0d08757a9b
14:21853843 CHD8 T>C	14	21853843	21853843	T	C	CHD8	c.7675A>G	NM_001170629.2	NP_001164100.1:p.(Arg2559Gly)	NC_000014.8:g.21853843T>C	(Likely) benign	2 labs	e1e2edf55e
5:67592104 PIK3R1 G>A	5	67592104	67592104	G	A	PIK3R1	c.1920G>A	NM_181523.2	NP_852664.1:p.(Gly640=)	NC_000005.9:g.67592104G>A	(Likely) benign	2 labs	0d1480958d
6:108395722 OSTM1 T>C	6	108395722	108395722	T	C	OSTM1	c.134A>G	NM_014028.3	NP_054747.2:p.(Asp45Gly)	NC_000006.11:g.108395722T>C	(Likely) benign	3 labs	0d15b2c83e
1:21900171 ALPL A>G	1	21900171	21900171	A	G	ALPL	c.876A>G	NM_000478.6	NP_000469.3:p.(Pro292=)	NC_000001.10:g.21900171A>G	(Likely) benign	3 labs	0d1992e20e
X:153184510 ARHGAP4 G>A	X	153184510	153184510	G	A	ARHGAP4	c.931-3C>T	NM_001164741.1	NP_001158213.1:p.?	NC_000023.10:g.153184510G>A	(Likely) benign	2 labs	0d1a2752a9
5:178421927 GRM6 C>T	5	178421927	178421927	C	T	GRM6	c.19G>A	NM_000843.4	NP_000834.2:p.(Ala7Thr)	NC_000005.9:g.178421927C>T	(Likely) benign	2 labs	0d17aa0fd2
X:70608706 TAF1 G>A	X	70608706	70608706	G	A	TAF1	c.2688G>A	NM_004606.5	NP_004597.3:p.(Glu896=)	NC_000023.10:g.70608706G>A	(Likely) benign	2 labs	0d1f634a09
16:3640664 SLX4 C>T	16	3640664	3640664	C	T	SLX4	c.2975G>A	NM_032444.2	NP_115820.2:p.(Gly992Glu)	NC_000016.9:g.3640664C>T	(Likely) benign	2 labs	0d1ee8a702
X:148578029 IDS G>A	X	148578029	148578029	G	A	IDS	c.727C>T	NM_000202.8	NP_000193.1:p.(Pro243Ser)	NC_000023.10:g.148578029G>A	(Likely) benign	2 labs	0d26a69f4e
X:130409217 IGSF1 C>G	X	130409217	130409217	C	G	IGSF1	c.3243G>C	NM_001170961.2	NP_001164432.1:p.(Met1081Ile)	NC_000023.10:g.130409217C>G	(Likely) benign	3 labs	0d21967992
X:107814664 COL4A5 A>G	X	107814664	107814664	A	G	COL4A5	c.406A>G	NM_033380.2	NP_203699.1:p.(Ser136Gly)	NC_000023.10:g.107814664A>G	(Likely) benign	2 labs	0d29477d46
22:21213416 SNAP29 A>G	22	21213416	21213416	A	G	SNAP29	c.18A>G	NM_004782.4	NP_004773.1:p.(Lys6=)	NC_000022.10:g.21213416A>G	(Likely) benign	2 labs	0d2c9f7eec
13:32914283 BRCA2 C>T	13	32914283	32914283	C	T	BRCA2	c.5791C>T	NM_000059.3	NP_000050.2:p.(Gln1931Ter)	NC_000013.10:g.32914283C>T	(Likely) pathogenic	2 labs	0d33aca95c
2:73799468 ALMS1 A>G	2	73799468	73799468	A	G	ALMS1	c.10467A>G	NM_015120.4	NP_055935.4:p.(Val3489=)	NC_000002.11:g.73799468A>G	(Likely) benign	3 labs	0d31ecc36f
10:75874083 VCL C>T	10	75874083	75874083	C	T	VCL	c.3091C>T	NM_014000.3	NP_054706.1:p.(Arg1031Trp)	NC_000010.10:g.75874083C>T	VUS	2 labs	0d45a0024d
3:100964694 IMPG2 G>T	3	100964694	100964694	G	T	IMPG2	c.1495C>A	NM_016247.4	NP_057331.2:p.(Pro499Thr)	NC_000003.11:g.100964694G>T	(Likely) benign	2 labs	0d38e0d65e
15:90173601 KIF7 G>A	15	90173601	90173601	G	A	KIF7	c.3235C>T	NM_198525.2	NP_940927.2:p.(Gln1079Ter)	NC_000015.9:g.90173601G>A	(Likely) pathogenic	2 labs	0d4ece1f57
8:1719094 CLN8 T>C	8	1719094	1719094	T	C	CLN8	c.-123-4T>C	NM_018941.3	NP_061764.2:p.?	NC_000008.10:g.1719094T>C	(Likely) benign	2 labs	0d580096af
10:97445401 TCTN3 C>T	10	97445401	97445401	C	T	TCTN3	c.889-8G>A	NM_015631.5	NP_056446.4:p.?	NC_000010.10:g.97445401C>T	(Likely) benign	3 labs	0d6253b15e
2:152411495 NEB C>T	2	152411495	152411495	C	T	NEB	c.19378G>A	NM_001271208.1	NP_001258137.1:p.(Asp6460Asn)	NC_000002.11:g.152411495C>T	VUS	2 labs	0d6c885f96
X:118221009 KIAA1210 T>C	X	118221009	118221009	T	C	KIAA1210	c.4184A>G	NM_020721.1	NP_065772.1:p.(Asn1395Ser)	NC_000023.10:g.118221009T>C	(Likely) benign	2 labs	0d72ff6e81
19:1627417 TCF3 C>T	19	1627417	1627417	C	T	TCF3	c.307G>A	NM_003200.5	NP_003191.1:p.(Gly103Ser)	NC_000019.9:g.1627417C>T	(Likely) benign	2 labs	0d7f03eb4a
2:166775800 TTC21B TCAGA>T	2	166775800	166775806	TCAGA	T	TTC21B	c.1656_1659del	NM_024753.5	NP_079029.3:p.(Cys552Ter)	NC_000002.11:g.166775803_166775806del	(Likely) pathogenic	2 labs	0d7f29e8ee
X:24483608 PDK3 G>A	X	24483608	24483608	G	A	PDK3	c.36G>A	NM_001142386.2	NP_001135858.1:p.(Val12=)	NC_000023.10:g.24483608G>A	(Likely) benign	2 labs	0d8733b553
8:90970934 NBN G>A	8	90970934	90970934	G	A	NBN	c.1124+19C>T	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90970934G>A	(Likely) benign	3 labs	0d80313aa5
17:18046894 MYO15A G>A	17	18046894	18046894	G	A	MYO15A	c.5925G>A	NM_016239.3	NP_057323.3:p.(Trp1975Ter)	NC_000017.10:g.18046894G>A	(Likely) pathogenic	2 labs	0d89f6565e
17:76134525 TMC8 T>C	17	76134525	76134525	T	C	TMC8	c.1629T>C	NM_152468.4	NP_689681.2:p.(Leu543=)	NC_000017.10:g.76134525T>C	(Likely) benign	2 labs	0d8c3cf965
3:45954613 LZTFL1 A>G	3	45954613	45954613	A	G	LZTFL1	c.26T>C	NM_001276379.1	NP_001263308.1:p.(Met9Thr)	NC_000003.11:g.45954613A>G	(Likely) benign	2 labs	0d8f6569f8
4:126238112 FAT4 G>A	4	126238112	126238112	G	A	FAT4	c.546G>A	NM_024582.6	NP_078858.4:p.(Ala182=)	NC_000004.11:g.126238112G>A	(Likely) benign	2 labs	0d936a15ff
11:6648424 DCHS1 G>A	11	6648424	6648424	G	A	DCHS1	c.5846C>T	NM_003737.4	NP_003728.1:p.(Thr1949Met)	NC_000011.9:g.6648424G>A	(Likely) benign	2 labs	0d9b0c15d4
2:179440029 TTN G>A	2	179440029	179440029	G	A	TTN	c.70830C>T	NM_001267550.2	NP_001254479.2:p.(Ser23610=)	NC_000002.11:g.179440029G>A	(Likely) benign	3 labs	0d9f504211
10:28224092 ODAD2 C>A	10	28224092	28224092	C	A	ODAD2	c.2342G>T	NM_018076.5	NP_060546.2:p.(Gly781Val)	NC_000010.10:g.28224092C>A	VUS	3 labs	0da1f2d262
19:42879864 MEGF8 C>T	19	42879864	42879864	C	T	MEGF8	c.7475C>T	NM_001271938.2	NP_001258867.1:p.(Thr2492Met)	NC_000019.9:g.42879864C>T	VUS	2 labs	0da34041c3
1:244217659 ZBTB18 C>T	1	244217659	244217659	C	T	ZBTB18	c.556C>T	NM_006352.4	NP_006343.2:p.(Arg186Ter)	NC_000001.10:g.244217659C>T	(Likely) pathogenic	2 labs	0dacdaf9fe
5:36972077 NIPBL G>A	5	36972077	36972077	G	A	NIPBL	c.802G>A	NM_015384.4	NP_056199.2:p.(Ala268Thr)	NC_000005.9:g.36972077G>A	VUS	2 labs	0db322b527
17:54940127 DGKE A>G	17	54940127	54940127	A	G	DGKE	c.1679A>G	NM_003647.2	NP_003638.1:p.(Gln560Arg)	NC_000017.10:g.54940127A>G	(Likely) benign	3 labs	0dbaf7411a
5:78181477 ARSB C>T	5	78181477	78181477	C	T	ARSB	c.1072G>A	NM_000046.5	NP_000037.2:p.(Val358Met)	NC_000005.9:g.78181477C>T	(Likely) benign	2 labs	0dcc8b6256
15:51217361 AP4E1 T>C	15	51217361	51217361	T	C	AP4E1	c.262T>C	NM_001252127.2	NP_001239056.1:p.(Cys88Arg)	NC_000015.9:g.51217361T>C	(Likely) benign	2 labs	0dd0538b54
X:69622551 KIF4A C>CA	X	69622551	69622552	C	CA	KIF4A	c.2619+7dup	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69622552dup	(Likely) benign	2 labs	0dd1a5370f
1:152284782 FLG C>T	1	152284782	152284782	C	T	FLG	c.2580G>A	NM_002016.1	NP_002007.1:p.(Ser860=)	NC_000001.10:g.152284782C>T	(Likely) benign	2 labs	0dd2e9a975
16:90002074 TUBB3 G>A	16	90002074	90002074	G	A	TUBB3	c.999G>A	NM_001197181.2	NP_001184110.1:p.(Glu333=)	NC_000016.9:g.90002074G>A	(Likely) benign	2 labs	0dd004bacd
15:89867424 POLG C>T	15	89867424	89867424	C	T	POLG	c.1984G>A	NM_002693.2	NP_002684.1:p.(Glu662Lys)	NC_000015.9:g.89867424C>T	(Likely) benign	2 labs	0dd9e5ef50
4:79432474 FRAS1 T>C	4	79432474	79432474	T	C	FRAS1	c.9827T>C	NM_025074.7	NP_079350.5:p.(Val3276Ala)	NC_000004.11:g.79432474T>C	VUS	3 labs	0ddccb8eda
2:48033750 MSH6 A>G	2	48033750	48033750	A	G	MSH6	c.3961A>G	NM_000179.3	NP_000170.1:p.(Arg1321Gly)	NC_000002.11:g.48033750A>G	(Likely) benign	6 labs	e20a2f6fda
2:44099433 ABCG8 C>A	2	44099433	44099433	C	A	ABCG8	c.1199C>A	NM_022437.3	NP_071882.1:p.(Thr400Lys)	NC_000002.11:g.44099433C>A	(Likely) benign	3 labs	e20fe1daff
1:65858145 DNAJC6 G>A	1	65858145	65858145	G	A	DNAJC6	c.1500G>A	NM_001256864.2	NP_001243793.1:p.(Glu500=)	NC_000001.10:g.65858145G>A	(Likely) benign	2 labs	0de1535dd8
11:78387423 TENM4 C>T	11	78387423	78387423	C	T	TENM4	c.5270G>A	NM_001098816.3	NP_001092286.2:p.(Arg1757Gln)	NC_000011.9:g.78387423C>T	VUS	3 labs	0de5f601ae
2:182423284 CERKL C>T	2	182423284	182423284	C	T	CERKL	c.898+9G>A	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182423284C>T	(Likely) benign	2 labs	0ded684585
12:98927312 TMPO C>T	12	98927312	98927312	C	T	TMPO	c.1277C>T	NM_003276.2	NP_003267.1:p.(Pro426Leu)	NC_000012.11:g.98927312C>T	(Likely) benign	2 labs	0df7824840
5:156531694 HAVCR2 G>C	5	156531694	156531694	G	C	HAVCR2	c.461C>G	NM_032782.4	NP_116171.3:p.(Thr154Ser)	NC_000005.9:g.156531694G>C	(Likely) benign	2 labs	0df9be1d91
7:92762000 SAMD9L T>C	7	92762000	92762000	T	C	SAMD9L	c.3285A>G	NM_152703.4	NP_689916.2:p.(Lys1095=)	NC_000007.13:g.92762000T>C	(Likely) benign	2 labs	0dfb327757
3:4817057 ITPR1 T>C	3	4817057	4817057	T	C	ITPR1	c.6066=	NM_001168272.2	NP_001161744.1:p.(Asn2022=)	NC_000003.11:g.4817057T>C	(Likely) benign	2 labs	0e028b25c6
19:2116736 AP3D1 C>T	19	2116736	2116736	C	T	AP3D1	c.1869G>A	NM_001261826.3	NP_001248755.1:p.(Leu623=)	NC_000019.9:g.2116736C>T	(Likely) benign	2 labs	0e061e16ea
16:67702400 C16orf86 A>G	16	67702400	67702400	A	G	C16orf86	c.851A>G	NM_001012984.3	NP_001013002.2:p.(Asp284Gly)	NC_000016.9:g.67702400A>G	(Likely) benign	2 labs	0e0d0a68a9
3:69168623 LMOD3 C>CT	3	69168623	69168624	C	CT	LMOD3	c.882dup	NM_198271.4	NP_938012.2:p.(Asp295ArgfsTer2)	NC_000003.11:g.69168624dup	(Likely) pathogenic	2 labs	0e0ff4c532
2:233396160 CHRND C>T	2	233396160	233396160	C	T	CHRND	c.919C>T	NM_000751.2	NP_000742.1:p.(Pro307Ser)	NC_000002.11:g.233396160C>T	VUS	2 labs	0e128b54da
15:51223121 AP4E1 A>G	15	51223121	51223121	A	G	AP4E1	c.597A>G	NM_001252127.1	NP_001239056.1:p.(Gln199=)	NC_000015.9:g.51223121A>G	(Likely) benign	2 labs	0e185f7e98
22:51065802 ARSA C>T	22	51065802	51065802	C	T	ARSA	c.257G>A	NM_000487.6	NP_000478.3:p.(Arg86Gln)	NC_000022.10:g.51065802C>T	(Likely) pathogenic	5 labs	0e1dbe1c06
9:137642477 COL5A1 C>T	9	137642477	137642477	C	T	COL5A1	c.1569+15C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137642477C>T	(Likely) benign	2 labs	0e452bbeaa
1:5927130 NPHP4 C>T	1	5927130	5927130	C	T	NPHP4	c.3518G>A	NM_015102.4	NP_055917.1:p.(Arg1173His)	NC_000001.10:g.5927130C>T	VUS	2 labs	0e2820d42c
11:44297054 ALX4 T>C	11	44297054	44297054	T	C	ALX4	c.621A>G	NM_021926.4	NP_068745.2:p.(Ser207=)	NC_000011.9:g.44297054T>C	(Likely) benign	2 labs	0e3a17422f
1:27701301 FCN3 T>C	1	27701301	27701301	T	C	FCN3	c.9A>G	NM_003665.2	NP_003656.2:p.(Leu3=)	NC_000001.10:g.27701301T>C	(Likely) benign	2 labs	0e389c576b
X:139587069 SOX3 C>G	X	139587069	139587069	C	G	SOX3	c.157G>C	NM_005634.3	NP_005625.2:p.(Val53Leu)	NC_000023.10:g.139587069C>G	(Likely) benign	5 labs	e21a211267
4:6303327 WFS1 C>T	4	6303327	6303327	C	T	WFS1	c.1805C>T	NM_006005.3	NP_005996.2:p.(Ala602Val)	NC_000004.11:g.6303327C>T	(Likely) benign	3 labs	0e4e8fa45d
2:20175312 WDR35 G>A	2	20175312	20175312	G	A	WDR35	c.549C>T	NM_001006657.1	NP_001006658.1:p.(Tyr183=)	NC_000002.11:g.20175312G>A	(Likely) benign	2 labs	0e59e07677
10:124377727 DMBT1 G>A	10	124377727	124377727	G	A	DMBT1	c.4699G>A	NM_007329.2	NP_015568.2:p.(Gly1567Ser)	NC_000010.10:g.124377727G>A	VUS	2 labs	0e5e5e0a53
16:2129587 TSC2 C>T	16	2129587	2129587	C	T	TSC2	c.3314C>T	NM_000548.5	NP_000539.2:p.(Thr1105Ile)	NC_000016.9:g.2129587C>T	VUS	2 labs	0e655f26ed
3:47162897 SETD2 T>C	3	47162897	47162897	T	C	SETD2	c.3229A>G	NM_014159.7	NP_054878.5:p.(Thr1077Ala)	NC_000003.11:g.47162897T>C	(Likely) benign	2 labs	e21b2a4fa4
3:12641216 RAF1 C>G	3	12641216	12641216	C	G	RAF1	c.1142G>C	NM_001354689.1	NP_001341618.1:p.(Gly381Ala)	NC_000003.11:g.12641216C>G	(Likely) pathogenic	2 labs	0e66cd54bb
17:78078832 GAA G>A	17	78078832	78078832	G	A	GAA	c.447G>A	NM_000152.3	NP_000143.2:p.(Thr149=)	NC_000017.10:g.78078832G>A	(Likely) benign	3 labs	0e6df4d572
17:41197722 BRCA1 TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG>T	17	41197722	41197784	TATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTCG	T	BRCA1	c.5503_5564del	NM_007294.4	NP_009225.1:p.(Arg1835ThrfsTer24)	NC_000017.10:g.41197723_41197784del	(Likely) pathogenic	3 labs	0e7a9d80cc
19:50823836 KCNC3 G>A	19	50823836	50823836	G	A	KCNC3	c.2170+14C>T	NM_004977.2	NP_004968.2:p.?	NC_000019.9:g.50823836G>A	(Likely) benign	2 labs	0e7f9376ae
2:122288478 RNU4ATAC C>T	2	122288478	122288478	C	T	RNU4ATAC	n.23C>T	NR_023343.1		NC_000002.11:g.122288478C>T	VUS	2 labs	0f6cfbb730
13:32893413 BRCA2 G>A	13	32893413	32893413	G	A	BRCA2	c.267G>A	NM_000059.3	NP_000050.2:p.(Pro89=)	NC_000013.10:g.32893413G>A	(Likely) benign	3 labs	0e8adeb749
10:50681043 ERCC6 G>A	10	50681043	50681043	G	A	ERCC6	c.2741C>T	NM_000124.4	NP_000115.1:p.(Thr914Met)	NC_000010.10:g.50681043G>A	VUS	3 labs	0e90d4e2ef
X:48460322 WDR13 G>A	X	48460322	48460322	G	A	WDR13	c.706G>A	NM_001166426.2	NP_001159898.1:p.(Val236Ile)	NC_000023.10:g.48460322G>A	(Likely) benign	2 labs	0e916c8a26
17:7752292 KDM6B A>C	17	7752292	7752292	A	C	KDM6B	c.2686A>C	NM_001080424.2	NP_001073893.1:p.(Thr896Pro)	NC_000017.10:g.7752292A>C	(Likely) benign	2 labs	0e953b95dc
17:42457368 ITGA2B A>G	17	42457368	42457368	A	G	ITGA2B	c.1752+2T>C	NM_000419.3	NP_000410.2:p.?	NC_000017.10:g.42457368A>G	(Likely) pathogenic	2 labs	0ea2e09065
9:139396933 NOTCH1 G>A	9	139396933	139396933	G	A	NOTCH1	c.5175C>T	NM_017617.5	NP_060087.3:p.(Thr1725=)	NC_000009.11:g.139396933G>A	(Likely) benign	3 labs	0ea0f94cfd
21:47858248 PCNT A>G	21	47858248	47858248	A	G	PCNT	c.9271A>G	NM_006031.5	NP_006022.3:p.(Ser3091Gly)	NC_000021.8:g.47858248A>G	(Likely) benign	2 labs	0ea621f2e7
2:163137881 IFIH1 C>A	2	163137881	163137881	C	A	IFIH1	c.1481G>T	NM_022168.4	NP_071451.2:p.(Gly494Val)	NC_000002.11:g.163137881C>A	(Likely) benign	2 labs	0eab1f9e68
12:88522823 CEP290 A>AC	12	88522823	88522824	A	AC	CEP290	c.853-12_853-11insG	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88522823_88522824insC	(Likely) benign	2 labs	0eae9bcb8a
11:76917170 MYO7A C>T	11	76917170	76917170	C	T	MYO7A	c.5665C>T	NM_000260.4	NP_000251.3:p.(Leu1889=)	NC_000011.9:g.76917170C>T	(Likely) benign	2 labs	0ea8dbebc1
7:117235030 CFTR G>A	7	117235030	117235030	G	A	CFTR	c.2537G>A	NM_000492.4	NP_000483.3:p.(Trp846Ter)	NC_000007.13:g.117235030G>A	(Likely) pathogenic	2 labs	0eb9c28cb1
2:163124020 IFIH1 A>G	2	163124020	163124020	A	G	IFIH1	c.2867T>C	NM_022168.4	NP_071451.2:p.(Ile956Thr)	NC_000002.11:g.163124020A>G	(Likely) benign	2 labs	0ec0d2deda
17:10304261 MYH8 G>A	17	10304261	10304261	G	A	MYH8	c.3270C>T	NM_002472.3	NP_002463.2:p.(Ile1090=)	NC_000017.10:g.10304261G>A	(Likely) benign	2 labs	e22e1ca218
17:78024046 CCDC40 A>C	17	78024046	78024046	A	C	CCDC40	c.1123A>C	NM_017950.3	NP_060420.2:p.(Lys375Gln)	NC_000017.10:g.78024046A>C	(Likely) benign	2 labs	0ec7301b64
1:114448281 DCLRE1B C>A	1	114448281	114448281	C	A	DCLRE1B	c.73C>A	NM_022836.4	NP_073747.1:p.(Arg25Ser)	NC_000001.10:g.114448281C>A	VUS	2 labs	0ed4d52e40
X:65252360 VSIG4 C>T	X	65252360	65252360	C	T	VSIG4	c.644G>A	NM_001184830.1	NP_001171759.1:p.(Gly215Asp)	NC_000023.10:g.65252360C>T	VUS	2 labs	0ede431e22
1:161138908 PPOX G>C	1	161138908	161138908	G	C	PPOX	c.256G>C	NM_001350130.2	NP_001337059.1:p.(Gly86Arg)	NC_000001.10:g.161138908G>C	VUS	2 labs	0ee2373bdc
1:210267893 SYT14 TGAA>T	1	210267893	210267901	TGAA	T	SYT14	c.561_563del	NM_001256006.2	NP_001242935.1:p.(Glu187del)	NC_000001.10:g.210267899_210267901del	(Likely) benign	2 labs	0ee2e90085
5:60822115 ZSWIM6 C>T	5	60822115	60822115	C	T	ZSWIM6	c.1729C>T	NM_020928.2	NP_065979.1:p.(Arg577Cys)	NC_000005.9:g.60822115C>T	(Likely) benign	2 labs	e237959003
18:29100770 DSG2 A>G	18	29100770	29100770	A	G	DSG2	c.221A>G	NM_001943.5	NP_001934.2:p.(His74Arg)	NC_000018.9:g.29100770A>G	(Likely) benign	3 labs	e23a848c11
2:113890443 IL1RN G>A	2	113890443	113890443	G	A	IL1RN	c.427G>A	NM_001318914.1	NP_001305843.1:p.(Glu143Lys)	NC_000002.11:g.113890443G>A	(Likely) benign	3 labs	0ee9a1c3a1
9:13250302 MPDZ T>C	9	13250302	13250302	T	C	MPDZ	c.13A>G	NM_001330637.1	NP_001317566.1:p.(Ile5Val)	NC_000009.11:g.13250302T>C	(Likely) benign	2 labs	0eeae26335
2:21239527 APOB C>T	2	21239527	21239527	C	T	APOB	c.3122-6G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239527C>T	(Likely) benign	2 labs	0ee811701b
10:73563128 CDH23 G>A	10	73563128	73563128	G	A	CDH23	c.7823G>A	NM_022124.5	NP_071407.4:p.(Arg2608His)	NC_000010.10:g.73563128G>A	VUS	3 labs	0ef59d3070
X:49068718 CACNA1F G>A	X	49068718	49068718	G	A	CACNA1F	c.4026C>T	NM_005183.3	NP_005174.2:p.(Ala1342=)	NC_000023.10:g.49068718G>A	(Likely) benign	2 labs	0ef6ee7aa1
X:153453477 OPN1MW G>A	X	153453477	153453477	G	A	OPN1MW	c.331G>A	NM_000513.2	NP_000504.1:p.(Val111Ile)	NC_000023.10:g.153453477G>A	(Likely) benign	2 labs	0ef9d19b30
1:120468127 NOTCH2 C>T	1	120468127	120468127	C	T	NOTCH2	c.4312G>A	NM_024408.3	NP_077719.2:p.(Val1438Ile)	NC_000001.10:g.120468127C>T	(Likely) benign	2 labs	0f01c071b7
X:132887652 GPC3 T>C	X	132887652	132887652	T	C	GPC3	c.889A>G	NM_001164617.1	NP_001158089.1:p.(Arg297Gly)	NC_000023.10:g.132887652T>C	(Likely) benign	2 labs	0f045867fb
3:14174107 TMEM43 G>C	3	14174107	14174107	G	C	TMEM43	c.442+12G>C	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174107G>C	(Likely) benign	3 labs	0f052aa7b1
1:160267126 COPA T>C	1	160267126	160267126	T	C	COPA	c.2290+7A>G	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160267126T>C	(Likely) benign	2 labs	0f06dfa98e
9:139400270 NOTCH1 C>T	9	139400270	139400270	C	T	NOTCH1	c.4078G>A	NM_017617.5	NP_060087.3:p.(Gly1360Ser)	NC_000009.11:g.139400270C>T	VUS	2 labs	0f0876a93a
1:227069677 PSEN2 T>C	1	227069677	227069677	T	C	PSEN2	c.69T>C	NM_000447.3	NP_000438.2:p.(Ala23=)	NC_000001.10:g.227069677T>C	(Likely) benign	4 labs	e242ac5360
X:47063146 UBA1 C>CT	X	47063146	47063163	C	CT	UBA1	c.1575+68dup	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47063163dup	(Likely) benign	2 labs	e244d66a48
9:137623967 COL5A1 C>T	9	137623967	137623967	C	T	COL5A1	c.1383C>T	NM_000093.5	NP_000084.3:p.(Ile461=)	NC_000009.11:g.137623967C>T	(Likely) benign	3 labs	0f09f2bcf9
7:56087399 PSPH G>A	7	56087399	56087399	G	A	PSPH	c.169C>T	NM_004577.4	NP_004568.2:p.(Pro57Ser)	NC_000007.13:g.56087399G>A	(Likely) benign	2 labs	e248c34814
4:5710119 EVC2 G>T	4	5710119	5710119	G	T	EVC2	c.122C>A	NM_147127.4	NP_667338.3:p.(Pro41His)	NC_000004.11:g.5710119G>T	(Likely) benign	3 labs	0f13732c8e
17:5421150 NLRP1 C>T	17	5421150	5421150	C	T	NLRP1	c.3973G>A	NM_033004.4	NP_127497.1:p.(Val1325Ile)	NC_000017.10:g.5421150C>T	(Likely) benign	2 labs	0f1505e1dc
7:92083938 GATAD1 G>A	7	92083938	92083938	G	A	GATAD1	c.558G>A	NM_021167.5	NP_066990.3:p.(Thr186=)	NC_000007.13:g.92083938G>A	(Likely) benign	2 labs	0f18a054aa
12:6078503 VWF G>A	12	6078503	6078503	G	A	VWF	c.7603C>T	NM_000552.5	NP_000543.3:p.(Arg2535Ter)	NC_000012.11:g.6078503G>A	(Likely) pathogenic	3 labs	0f18ebdba8
X:153641559 TAFAZZIN G>A	X	153641559	153641559	G	A	TAFAZZIN	c.254G>A	NM_000116.5	NP_000107.1:p.(Arg85His)	NC_000023.10:g.153641559G>A	VUS	3 labs	0f279ebd14
11:103325908 DYNC2H1 C>T	11	103325908	103325908	C	T	DYNC2H1	c.12478-6C>T	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103325908C>T	(Likely) benign	3 labs	0f316c9938
11:94204814 MRE11 T>C	11	94204814	94204814	T	C	MRE11	c.771A>G	NM_001330347.1	NP_001317276.1:p.(Glu257=)	NC_000011.9:g.94204814T>C	(Likely) benign	2 labs	0f37bd5985
8:61778197 CHD7 C>A	8	61778197	61778197	C	A	CHD7	c.8699C>A	NM_017780.4	NP_060250.2:p.(Pro2900Gln)	NC_000008.10:g.61778197C>A	VUS	2 labs	e24dd9f8a0
6:32820000 TAP1 C>A	6	32820000	32820000	C	A	TAP1	c.910G>T	NM_000593.5	NP_000584.2:p.(Val304Leu)	NC_000006.11:g.32820000C>A	(Likely) benign	2 labs	0f3d2602b4
X:19433376 MAP3K15 C>A	X	19433376	19433376	C	A	MAP3K15	c.1440-1G>T	NM_001001671.3	NP_001001671.3:p.?	NC_000023.10:g.19433376C>A	(Likely) benign	2 labs	0f3d4448b1
X:70323954 CXorf65 T>C	X	70323954	70323954	T	C	CXorf65	c.435A>G	NM_001025265.2	NP_001020436.1:p.(Gln145=)	NC_000023.10:g.70323954T>C	(Likely) benign	2 labs	0f413f4b47
7:42007251 GLI3 G>A	7	42007251	42007251	G	A	GLI3	c.2374C>T	NM_000168.6	NP_000159.3:p.(Arg792Ter)	NC_000007.13:g.42007251G>A	(Likely) pathogenic	2 labs	0f41937495
4:15601232 CC2D2A C>A	4	15601232	15601232	C	A	CC2D2A	c.4577C>A	NM_001080522.2	NP_001073991.2:p.(Thr1526Asn)	NC_000004.11:g.15601232C>A	VUS	2 labs	0f422fd654
16:30736342 SRCAP CGTT>C	16	30736342	30736345	CGTT	C	SRCAP	c.5598_5600del	NM_006662.3	NP_006653.2:p.(Phe1867del)	NC_000016.9:g.30736343_30736345del	(Likely) benign	3 labs	0f41b4fc23
17:39925274 JUP C>T	17	39925274	39925274	C	T	JUP	c.654G>A	NM_002230.4	NP_002221.1:p.(Gly218=)	NC_000017.10:g.39925274C>T	(Likely) benign	3 labs	e2572cb8c7
15:48584044 SLC12A1 T>C	15	48584044	48584044	T	C	SLC12A1	c.2943T>C	NM_000338.2	NP_000329.2:p.(Ile981=)	NC_000015.9:g.48584044T>C	(Likely) benign	2 labs	0f4fda4b15
3:38592277 SCN5A C>T	3	38592277	38592277	C	T	SCN5A	c.5586G>A	NM_001099404.1	NP_001092874.1:p.(Leu1862=)	NC_000003.11:g.38592277C>T	(Likely) benign	2 labs	0f548cd907
12:76740607 BBS10 C>T	12	76740607	76740607	C	T	BBS10	c.1158G>A	NM_024685.4	NP_078961.3:p.(Leu386=)	NC_000012.11:g.76740607C>T	(Likely) benign	2 labs	0f4c177749
3:12645007 RAF1 C>T	3	12645007	12645007	C	T	RAF1	c.834+628G>A	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12645007C>T	(Likely) benign	2 labs	e25d6942f1
16:3639473 SLX4 G>A	16	3639473	3639473	G	A	SLX4	c.4166C>T	NM_032444.2	NP_115820.2:p.(Ala1389Val)	NC_000016.9:g.3639473G>A	(Likely) benign	2 labs	0f5f13dc32
12:2788802 CACNA1C G>C	12	2788802	2788802	G	C	CACNA1C	c.5428G>C	NM_199460.3	NP_955630.3:p.(Gly1810Arg)	NC_000012.11:g.2788802G>C	VUS	2 labs	0f61aaa98a
14:88431969 GALC T>C	14	88431969	88431969	T	C	GALC	c.913A>G	NM_000153.4	NP_000144.2:p.(Ile305Val)	NC_000014.8:g.88431969T>C	(Likely) benign	2 labs	e25e71a4f3
17:48267238 COL1A1 G>A	17	48267238	48267238	G	A	COL1A1	c.2595C>T	NM_000088.4	NP_000079.2:p.(Arg865=)	NC_000017.10:g.48267238G>A	(Likely) benign	3 labs	0f71596537
11:47354175 MYBPC3 C>T	11	47354175	47354175	C	T	MYBPC3	c.3569G>A	NM_000256.3	NP_000247.2:p.(Arg1190His)	NC_000011.9:g.47354175C>T	VUS	2 labs	e2647b7e3a
2:170151227 LRP2 TAAA>T	2	170151227	170151250	TAAA	T	LRP2	c.428-10_428-8del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170151248_170151250del	(Likely) benign	2 labs	0f818a55ba
X:153648433 TAFAZZIN G>A	X	153648433	153648433	G	A	TAFAZZIN	c.646G>A	NM_000116.3	NP_000107.1:p.(Gly216Arg)	NC_000023.10:g.153648433G>A	(Likely) pathogenic	2 labs	0f896656d5
1:74905279 TNNI3K G>A	1	74905279	74905279	G	A	TNNI3K	c.1984G>A	NM_015978.3	NP_057062.1:p.(Glu662Lys)	NC_000001.10:g.74905279G>A	VUS	2 labs	0f8c31f8c6
18:7023340 LAMA1 G>A	18	7023340	7023340	G	A	LAMA1	c.2524C>T	NM_005559.3	NP_005550.2:p.(Pro842Ser)	NC_000018.9:g.7023340G>A	VUS	2 labs	0f934f7ac9
8:10466702 RP1L1 C>T	8	10466702	10466702	C	T	RP1L1	c.4906G>A	NM_178857.6	NP_849188.4:p.(Glu1636Lys)	NC_000008.10:g.10466702C>T	(Likely) benign	2 labs	0f96ae4a00
1:10421790 KIF1B T>C	1	10421790	10421790	T	C	KIF1B	c.4073T>C	NM_015074.3	NP_055889.2:p.(Val1358Ala)	NC_000001.10:g.10421790T>C	VUS	4 labs	0fa0c314fc
4:126371306 FAT4 C>T	4	126371306	126371306	C	T	FAT4	c.9141C>T	NM_001291303.1	NP_001278232.1:p.(Ser3047=)	NC_000004.11:g.126371306C>T	(Likely) benign	2 labs	0fa33cf796
21:47851753 PCNT A>G	21	47851753	47851753	A	G	PCNT	c.8375A>G	NM_006031.6	NP_006022.3:p.(Gln2792Arg)	NC_000021.8:g.47851753A>G	(Likely) benign	2 labs	0faa52bab2
5:1255454 TERT G>A	5	1255454	1255454	G	A	TERT	c.3105C>T	NM_198253.2	NP_937983.2:p.(Val1035=)	NC_000005.9:g.1255454G>A	(Likely) benign	4 labs	0fafebedc3
4:1803568 FGFR3 C>G	4	1803568	1803568	C	G	FGFR3	c.746C>G	NM_000142.4	NP_000133.1:p.(Ser249Cys)	NC_000004.11:g.1803568C>G	(Likely) pathogenic	3 labs	0fb73611e3
17:40370280 STAT5B C>T	17	40370280	40370280	C	T	STAT5B	c.1058G>A	NM_012448.3	NP_036580.2:p.(Arg353His)	NC_000017.10:g.40370280C>T	VUS	2 labs	0fbaf7d882
1:43906137 SZT2 C>T	1	43906137	43906137	C	T	SZT2	c.7224C>T	NM_001365999.1	NP_001352928.1:p.(Asn2408=)	NC_000001.10:g.43906137C>T	(Likely) benign	2 labs	0fbdcbe05e
16:30199805 CORO1A G>A	16	30199805	30199805	G	A	CORO1A	c.1189G>A	NM_007074.3	NP_009005.1:p.(Val397Ile)	NC_000016.9:g.30199805G>A	(Likely) benign	2 labs	0fc0f2dd68
16:67688344 CARMIL2 C>A	16	67688344	67688344	C	A	CARMIL2	c.3331C>A	NM_001013838.2	NP_001013860.1:p.(Arg1111=)	NC_000016.9:g.67688344C>A	(Likely) benign	2 labs	0fc1fff226
8:61654751 CHD7 C>G	8	61654751	61654751	C	G	CHD7	c.760C>G	NM_017780.4	NP_060250.2:p.(Gln254Glu)	NC_000008.10:g.61654751C>G	VUS	3 labs	0fc7717e18
16:11001256 CIITA C>T	16	11001256	11001256	C	T	CIITA	c.1910C>T	NM_001286402.1	NP_001273331.1:p.(Thr637Met)	NC_000016.9:g.11001256C>T	VUS	2 labs	0fd1901639
10:69959242 MYPN C>A	10	69959242	69959242	C	A	MYPN	c.2521C>A	NM_001256268.2	NP_001243197.1:p.(Pro841Thr)	NC_000010.10:g.69959242C>A	(Likely) benign	3 labs	0fcc2a9b8a
20:62324510 RTEL1 G>C	20	62324510	62324510	G	C	RTEL1	c.2866G>C	NM_001283009.1	NP_001269938.1:p.(Val956Leu)	NC_000020.10:g.62324510G>C	VUS	2 labs	0fe63ad838
19:12766594 MAN2B1 G>C	19	12766594	12766594	G	C	MAN2B1	c.1744C>G	NM_000528.3	NP_000519.2:p.(Gln582Glu)	NC_000019.9:g.12766594G>C	(Likely) benign	2 labs	0fe9dafa1c
22:25599811 CRYBB3 G>A	22	25599811	25599811	G	A	CRYBB3	c.276G>A	NM_004076.4	NP_004067.1:p.(Trp92Ter)	NC_000022.10:g.25599811G>A	VUS	2 labs	0feb8b7f85
22:33679238 LARGE1 T>C	22	33679238	33679238	T	C	LARGE1	c.1827A>G	NM_004737.5	NP_004728.1:p.(Ser609=)	NC_000022.10:g.33679238T>C	(Likely) benign	2 labs	0fed663984
19:38951155 RYR1 G>A	19	38951155	38951155	G	A	RYR1	c.2501G>A	NM_000540.2	NP_000531.2:p.(Arg834Gln)	NC_000019.9:g.38951155G>A	(Likely) benign	2 labs	0ff3492125
17:29557401 NF1 G>C	17	29557401	29557401	G	C	NF1	c.3113+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557401G>C	(Likely) pathogenic	2 labs	0ffc80debc
17:79478019 ACTG1 G>A	17	79478019	79478019	G	A	ACTG1	c.918C>T	NM_001199954.3	NP_001186883.1:p.(Tyr306=)	NC_000017.10:g.79478019G>A	(Likely) benign	3 labs	10019698a1
19:15272113 NOTCH3 C>T	19	15272113	15272113	C	T	NOTCH3	c.6326G>A	NM_000435.2	NP_000426.2:p.(Arg2109Gln)	NC_000019.9:g.15272113C>T	VUS	2 labs	1001b8b033
7:103237018 RELN A>T	7	103237018	103237018	A	T	RELN	c.3424T>A	NM_173054.2	NP_774959.1:p.(Ser1142Thr)	NC_000007.13:g.103237018A>T	(Likely) benign	2 labs	1004026348
9:123751971 C5 G>A	9	123751971	123751971	G	A	C5	c.3029C>T	NM_001735.3	NP_001726.2:p.(Ala1010Val)	NC_000009.11:g.123751971G>A	(Likely) benign	4 labs	e2834e7429
15:49060434 CEP152 T>C	15	49060434	49060434	T	C	CEP152	c.2000A>G	NM_001194998.1	NP_001181927.1:p.(Lys667Arg)	NC_000015.9:g.49060434T>C	(Likely) benign	2 labs	1019e580e4
11:130066457 ST14 C>CA	11	130066457	130066458	C	CA	ST14	c.1224-8_1224-7insA	NM_021978.3	NP_068813.1:p.?	NC_000011.9:g.130066457_130066458insA	(Likely) benign	2 labs	10235c5d1e
12:110029154 MVK G>A	12	110029154	110029154	G	A	MVK	c.877G>A	NM_000431.2	NP_000422.1:p.(Val293Met)	NC_000012.11:g.110029154G>A	VUS	2 labs	102d3d6eda
7:73477524 ELN G>A	7	73477524	73477524	G	A	ELN	c.2014G>A	NM_001278939.2	NP_001265868.1:p.(Gly672Ser)	NC_000007.13:g.73477524G>A	(Likely) benign	2 labs	e286313d01
1:12024800 PLOD1 G>A	1	12024800	12024800	G	A	PLOD1	c.1428G>A	NM_000302.4	NP_000293.2:p.(Lys476=)	NC_000001.10:g.12024800G>A	(Likely) benign	2 labs	104e7717bf
22:36661200 APOL1 T>C	22	36661200	36661200	T	C	APOL1	c.366T>C	NM_145343.2	NP_663318.1:p.(Asn122=)	NC_000022.10:g.36661200T>C	(Likely) benign	2 labs	10529ecf34
8:140630990 KCNK9 A>G	8	140630990	140630990	A	G	KCNK9	c.636T>C	NM_001282534.2	NP_001269463.1:p.(Gly212=)	NC_000008.10:g.140630990A>G	(Likely) benign	2 labs	e28742174f
9:135786388 TSC1 C>T	9	135786388	135786388	C	T	TSC1	c.1141+1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786388C>T	(Likely) pathogenic	2 labs	1062436919
3:43607224 ANO10 C>CA	3	43607224	43607242	C	CA	ANO10	c.1219-6dup	NM_001204831.2	NP_001191760.1:p.?	NC_000003.11:g.43607242dup	(Likely) benign	2 labs	1066260f12
5:13829799 DNAH5 G>A	5	13829799	13829799	G	A	DNAH5	c.6264C>T	NM_001369.3	NP_001360.1:p.(Ala2088=)	NC_000005.9:g.13829799G>A	(Likely) benign	2 labs	106fe5f91e
10:104849450 NT5C2 C>A	10	104849450	104849450	C	A	NT5C2	c.1665G>T	NM_012229.5	NP_036361.1:p.(Glu555Asp)	NC_000010.10:g.104849450C>A	VUS	2 labs	e28af8e907
X:153461449 OPN1MW G>T	X	153461449	153461449	G	T	OPN1MW	c.1013G>T	NM_000513.2	NP_000504.1:p.(Gly338Val)	NC_000023.10:g.153461449G>T	VUS	2 labs	106fd3ca4c
4:1807549 FGFR3 C>T	4	1807549	1807549	C	T	FGFR3	c.1718C>T	NM_000142.5	NP_000133.1:p.(Pro573Leu)	NC_000004.11:g.1807549C>T	VUS	3 labs	10877250bc
2:71838385 DYSF C>A	2	71838385	71838385	C	A	DYSF	c.3965C>A	NM_001130981.1	NP_001124453.1:p.(Thr1322Lys)	NC_000002.11:g.71838385C>A	(Likely) benign	2 labs	1085e74664
X:47466399 SYN1 T>G	X	47466399	47466399	T	G	SYN1	c.472A>C	NM_006950.3	NP_008881.2:p.(Asn158His)	NC_000023.10:g.47466399T>G	(Likely) benign	2 labs	108d42f2c4
2:29416481 ALK T>C	2	29416481	29416481	T	C	ALK	c.4472A>G	NM_004304.5	NP_004295.2:p.(Lys1491Arg)	NC_000002.11:g.29416481T>C	(Likely) benign	5 labs	e2a1088d38
6:129723598 LAMA2 G>T	6	129723598	129723598	G	T	LAMA2	c.5692G>T	NM_000426.4	NP_000417.3:p.(Ala1898Ser)	NC_000006.11:g.129723598G>T	VUS	2 labs	10aa6a0566
X:1407471 CSF2RA A>G	X	1407471	1407471	A	G	CSF2RA	c.279A>G	NM_001161529.1	NP_001155001.1:p.(Thr93=)	NC_000023.10:g.1407471A>G	(Likely) benign	2 labs	10ae7ec8dd
11:64508557 RASGRP2 G>A	11	64508557	64508557	G	A	RASGRP2	c.240-6C>T	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64508557G>A	(Likely) benign	3 labs	10b9e04746
5:37227722 CPLANE1 A>G	5	37227722	37227722	A	G	CPLANE1	c.1319T>C	NM_023073.3	NP_075561.3:p.(Leu440Pro)	NC_000005.9:g.37227722A>G	VUS	2 labs	10ba718a94
2:191904021 STAT4 G>T	2	191904021	191904021	G	T	STAT4	c.1338C>A	NM_003151.3	NP_003142.1:p.(Thr446=)	NC_000002.11:g.191904021G>T	(Likely) benign	3 labs	10bae10b37
10:94405194 KIF11 A>G	10	94405194	94405194	A	G	KIF11	c.2342A>G	NM_004523.3	NP_004514.2:p.(Gln781Arg)	NC_000010.10:g.94405194A>G	(Likely) benign	2 labs	10c06a3e03
3:129170742 IFT122 T>C	3	129170742	129170742	T	C	IFT122	c.109-15T>C	NM_052985.3	NP_443711.2:p.?	NC_000003.11:g.129170742T>C	(Likely) benign	2 labs	10c17a4b92
1:247587783 NLRP3 G>A	1	247587783	247587783	G	A	NLRP3	c.1032G>A	NM_001243133.1	NP_001230062.1:p.(Leu344=)	NC_000001.10:g.247587783G>A	(Likely) benign	2 labs	10c3b3f4a7
15:89382223 ACAN G>A	15	89382223	89382223	G	A	ACAN	c.400G>A	NM_013227.3	NP_037359.3:p.(Glu134Lys)	NC_000015.9:g.89382223G>A	VUS	2 labs	10c3d9866c
17:48264049 COL1A1 C>T	17	48264049	48264049	C	T	COL1A1	c.3766G>A	NM_000088.3	NP_000079.2:p.(Ala1256Thr)	NC_000017.10:g.48264049C>T	(Likely) benign	2 labs	10c7afac7c
5:141694117 SPRY4 C>T	5	141694117	141694117	C	T	SPRY4	c.626G>A	NM_030964.5	NP_112226.2:p.(Cys209Tyr)	NC_000005.9:g.141694117C>T	(Likely) benign	2 labs	e2a51433d5
17:78188556 SGSH C>T	17	78188556	78188556	C	T	SGSH	c.364G>A	NM_000199.5	NP_000190.1:p.(Gly122Arg)	NC_000017.10:g.78188556C>T	(Likely) pathogenic	2 labs	10d5e67df9
5:74807214 CERT1 G>C	5	74807214	74807214	G	C	CERT1	c.203C>G	NM_001130105.1	NP_001123577.1:p.(Ala68Gly)	NC_000005.9:g.74807214G>C	VUS	2 labs	10d8bb6078
3:128598490 ACAD9 C>CTAAG	3	128598490	128598494	C	CTAAG	ACAD9	c.-44_-41dup	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128598491_128598494dup	(Likely) benign	3 labs	e2a82a5ac1
2:172648088 SLC25A12 C>T	2	172648088	172648088	C	T	SLC25A12	c.1458G>A	NM_003705.4	NP_003696.2:p.(Ala486=)	NC_000002.11:g.172648088C>T	(Likely) benign	2 labs	10ed975199
14:68219058 ZFYVE26 T>C	14	68219058	68219058	T	C	ZFYVE26	c.7371+3A>G	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68219058T>C	VUS	2 labs	10ee9374a9
6:70944597 COL9A1 C>T	6	70944597	70944597	C	T	COL9A1	c.2159G>A	NM_001851.4	NP_001842.3:p.(Arg720Gln)	NC_000006.11:g.70944597C>T	VUS	2 labs	10f1db7fd8
19:4101062 MAP2K2 G>T	19	4101062	4101062	G	T	MAP2K2	c.660C>A	NM_030662.4	NP_109587.1:p.(Ile220=)	NC_000019.9:g.4101062G>T	(Likely) benign	2 labs	e2ac92464f
X:153296780 MECP2 G>A	X	153296780	153296780	G	A	MECP2	c.499C>T	NM_004992.3	NP_004983.1:p.(Arg167Trp)	NC_000023.10:g.153296780G>A	(Likely) pathogenic	3 labs	10f7408656
2:179629000 TTN T>C	2	179629000	179629000	T	C	TTN	c.10018A>G	NM_001256850.1	NP_001243779.1:p.(Met3340Val)	NC_000002.11:g.179629000T>C	VUS	2 labs	e2b5c1c913
5:14388797 TRIO GT>G	5	14388797	14388815	GT	G	TRIO	c.3948+27del	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14388815del	(Likely) benign	2 labs	10ff03c954
17:6337375 AIPL1 G>C	17	6337375	6337375	G	C	AIPL1	c.140C>G	NM_014336.5	NP_055151.3:p.(Thr47Arg)	NC_000017.10:g.6337375G>C	(Likely) benign	2 labs	110738f7ee
2:179501274 TTN C>T	2	179501274	179501274	C	T	TTN	c.41180G>A	NM_001267550.1	NP_001254479.1:p.(Arg13727His)	NC_000002.11:g.179501274C>T	VUS	2 labs	1115eb1214
X:13774739 OFD1 A>G	X	13774739	13774739	A	G	OFD1	c.1264A>G	NM_003611.3	NP_003602.1:p.(Lys422Glu)	NC_000023.10:g.13774739A>G	(Likely) benign	3 labs	111a857418
2:179583343 TTN A>G	2	179583343	179583343	A	G	TTN	c.24506-16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179583343A>G	(Likely) benign	4 labs	1120312649
2:26702409 OTOF C>T	2	26702409	26702409	C	T	OTOF	c.2025G>A	NM_194248.2	NP_919224.1:p.(Glu675=)	NC_000002.11:g.26702409C>T	(Likely) benign	2 labs	11259a2624
11:2185589 TH G>A	11	2185589	2185589	G	A	TH	c.1461C>T	NM_199292.3	NP_954986.2:p.(Ser487=)	NC_000011.9:g.2185589G>A	(Likely) benign	2 labs	113129546d
17:56348226 MPO T>G	17	56348226	56348226	T	G	MPO	c.2031-2A>C	NM_000250.2	NP_000241.1:p.?	NC_000017.10:g.56348226T>G	(Likely) pathogenic	4 labs	11355040a9
14:23248052 SLC7A7 T>G	14	23248052	23248052	T	G	SLC7A7	c.720A>C	NM_001126106.2	NP_001119578.1:p.(Ser240=)	NC_000014.8:g.23248052T>G	(Likely) benign	2 labs	1139269d4c
16:3819206 CREBBP G>A	16	3819206	3819206	G	A	CREBBP	c.3029C>T	NM_004380.3	NP_004371.2:p.(Pro1010Leu)	NC_000016.9:g.3819206G>A	(Likely) benign	2 labs	113cb4fec3
5:13839637 DNAH5 A>G	5	13839637	13839637	A	G	DNAH5	c.5710T>C	NM_001369.2	NP_001360.1:p.(Cys1904Arg)	NC_000005.9:g.13839637A>G	VUS	2 labs	113dea8159
8:22052439 BMP1 CCT>C	8	22052439	22052443	CCT	C	BMP1	c.1639+10_1639+11del	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22052442_22052443del	(Likely) benign	2 labs	113df8e038
10:43610100 RET G>A	10	43610100	43610100	G	A	RET	c.2052G>A	NM_020975.4	NP_066124.1:p.(Pro684=)	NC_000010.10:g.43610100G>A	(Likely) benign	2 labs	11408c42f3
X:14877419 FANCB A>G	X	14877419	14877419	A	G	FANCB	c.989T>C	NM_001018113.1	NP_001018123.1:p.(Ile330Thr)	NC_000023.10:g.14877419A>G	(Likely) benign	2 labs	11461d0f38
21:46311813 ITGB2 A>G	21	46311813	46311813	A	G	ITGB2	c.1323T>C	NM_000211.5	NP_000202.3:p.(Val441=)	NC_000021.8:g.46311813A>G	(Likely) benign	2 labs	e2c52db74b
9:133942352 LAMC3 C>T	9	133942352	133942352	C	T	LAMC3	c.2353C>T	NM_006059.4	NP_006050.3:p.(Arg785Cys)	NC_000009.11:g.133942352C>T	VUS	3 labs	11601c4dd6
19:12758105 MAN2B1 C>G	19	12758105	12758105	C	G	MAN2B1	c.2865G>C	NM_000528.4	NP_000519.2:p.(Thr955=)	NC_000019.9:g.12758105C>G	(Likely) benign	3 labs	1161cbece4
15:89862569 POLG C>T	15	89862569	89862569	C	T	POLG	c.2994G>A	NM_002693.3	NP_002684.1:p.(Ser998=)	NC_000015.9:g.89862569C>T	(Likely) benign	2 labs	116f6b4d5d
3:14176694 TMEM43 C>A	3	14176694	14176694	C	A	TMEM43	c.742C>A	NM_024334.3	NP_077310.1:p.(Leu248Met)	NC_000003.11:g.14176694C>A	(Likely) benign	2 labs	1170f26bbb
1:186052024 HMCN1 G>A	1	186052024	186052024	G	A	HMCN1	c.8815G>A	NM_031935.2	NP_114141.2:p.(Gly2939Ser)	NC_000001.10:g.186052024G>A	(Likely) benign	2 labs	116872561e
4:151935681 LRBA C>A	4	151935681	151935681	C	A	LRBA	c.114G>T	NM_001199282.2	NP_001186211.2:p.(Gly38=)	NC_000004.11:g.151935681C>A	(Likely) benign	2 labs	1170453e21
5:13886244 DNAH5 CA>C	5	13886244	13886263	CA	C	DNAH5	c.2578-7del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886263del	(Likely) benign	2 labs	1175a958a0
14:50117066 POLE2 A>G	14	50117066	50117066	A	G	POLE2	c.1183T>C	NM_001348385.1	NP_001335314.1:p.(Tyr395His)	NC_000014.8:g.50117066A>G	(Likely) benign	2 labs	1177f76834
9:406999 DOCK8 C>T	9	406999	406999	C	T	DOCK8	c.3460C>T	NM_203447.3	NP_982272.2:p.(Arg1154Cys)	NC_000009.11:g.406999C>T	(Likely) benign	2 labs	117b76f13a
12:6458343 SCNN1A G>A	12	6458343	6458343	G	A	SCNN1A	c.1661C>T	NM_001159576.1	NP_001153048.1:p.(Ser554Leu)	NC_000012.11:g.6458343G>A	(Likely) benign	2 labs	117cacf8db
2:233398698 CHRND C>T	2	233398698	233398698	C	T	CHRND	c.1105C>T	NM_000751.2	NP_000742.1:p.(Pro369Ser)	NC_000002.11:g.233398698C>T	(Likely) benign	2 labs	1192f14167
2:220431582 OBSL1 C>T	2	220431582	220431582	C	T	OBSL1	c.2104G>A	NM_015311.2	NP_056126.1:p.(Val702Met)	NC_000002.11:g.220431582C>T	VUS	2 labs	119740dac2
17:62041867 SCN4A C>T	17	62041867	62041867	C	T	SCN4A	c.1413G>A	NM_000334.4	NP_000325.4:p.(Met471Ile)	NC_000017.10:g.62041867C>T	(Likely) benign	2 labs	11a50478c7
X:73960569 NEXMIF T>C	X	73960569	73960569	T	C	NEXMIF	c.3823A>G	NM_001008537.2	NP_001008537.1:p.(Ser1275Gly)	NC_000023.10:g.73960569T>C	(Likely) benign	2 labs	11a5f9aa4a
5:125903984 ALDH7A1 T>C	5	125903984	125903984	T	C	ALDH7A1	c.838A>G	NM_001182.5	NP_001173.2:p.(Lys280Glu)	NC_000005.9:g.125903984T>C	VUS	2 labs	11b2464bae
12:6174423 VWF T>A	12	6174423	6174423	T	A	VWF	c.1173A>T	NM_000552.5	NP_000543.3:p.(Thr391=)	NC_000012.11:g.6174423T>A	(Likely) benign	2 labs	e2d0dd5fbc
20:10625892 JAG1 CACTG>C	20	10625892	10625900	CACTG	C	JAG1	c.2122_2125del	NM_000214.3	NP_000205.1:p.(Gln708ValfsTer34)	NC_000020.10:g.10625897_10625900del	(Likely) pathogenic	2 labs	11bd475afc
16:84209816 DNAAF1 T>C	16	84209816	84209816	T	C	DNAAF1	c.1976T>C	NM_178452.6	NP_848547.4:p.(Leu659Pro)	NC_000016.9:g.84209816T>C	(Likely) benign	2 labs	11c760a365
2:216299550 FN1 G>A	2	216299550	216299550	G	A	FN1	c.149-3C>T	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216299550G>A	(Likely) benign	2 labs	e2d291c329
5:149457700 CSF1R A>C	5	149457700	149457700	A	C	CSF1R	c.704T>G	NM_001349736.1	NP_001336665.1:p.(Val235Gly)	NC_000005.9:g.149457700A>C	VUS	2 labs	11c2c020ee
2:20147914 WDR35 G>T	2	20147914	20147914	G	T	WDR35	c.1557+11C>A	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20147914G>T	(Likely) benign	2 labs	11c81c8984
21:47552154 COL6A2 C>A	21	47552154	47552154	C	A	COL6A2	c.2748C>A	NM_001849.3	NP_001840.3:p.(His916Gln)	NC_000021.8:g.47552154C>A	(Likely) benign	2 labs	11cb9774f4
2:211454831 CPS1 G>A	2	211454831	211454831	G	A	CPS1	c.713G>A	NM_001875.4	NP_001866.2:p.(Arg238Gln)	NC_000002.11:g.211454831G>A	VUS	2 labs	11d7d29e69
6:49419405 MMUT C>T	6	49419405	49419405	C	T	MMUT	c.1106G>A	NM_000255.4	NP_000246.2:p.(Arg369His)	NC_000006.11:g.49419405C>T	(Likely) pathogenic	2 labs	e2d5087a93
15:89873489 POLG C>G	15	89873489	89873489	C	G	POLG	c.678G>C	NM_002693.3	NP_002684.1:p.(Gln226His)	NC_000015.9:g.89873489C>G	(Likely) benign	3 labs	11ed6e5b13
6:31896597 C2 C>T	6	31896597	31896597	C	T	C2	c.258C>T	NM_001282458.1	NP_001269387.1:p.(Phe86=)	NC_000006.11:g.31896597C>T	(Likely) benign	2 labs	11f141181b
3:47098588 SETD2 A>C	3	47098588	47098588	A	C	SETD2	c.6686T>G	NM_014159.6	NP_054878.5:p.(Val2229Gly)	NC_000003.11:g.47098588A>C	(Likely) benign	2 labs	11f92fd1ab
1:111147352 KCNA2 T>C	1	111147352	111147352	T	C	KCNA2	c.53A>G	NM_004974.3	NP_004965.1:p.(His18Arg)	NC_000001.10:g.111147352T>C	VUS	2 labs	11fa32137b
2:220283495 DES C>A	2	220283495	220283495	C	A	DES	c.311C>A	NM_001927.3	NP_001918.3:p.(Thr104Lys)	NC_000002.11:g.220283495C>A	VUS	2 labs	1200054f4e
17:10541351 MYH3 G>A	17	10541351	10541351	G	A	MYH3	c.3729+9C>T	NM_002470.3	NP_002461.2:p.?	NC_000017.10:g.10541351G>A	(Likely) benign	2 labs	1207b729a8
5:13727609 DNAH5 T>C	5	13727609	13727609	T	C	DNAH5	c.12033+7A>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13727609T>C	(Likely) benign	2 labs	120b5d06a5
18:2937815 LPIN2 G>A	18	2937815	2937815	G	A	LPIN2	c.1043C>T	NM_014646.2	NP_055461.1:p.(Pro348Leu)	NC_000018.9:g.2937815G>A	(Likely) benign	3 labs	120ccc69b6
4:107154099 TBCK C>T	4	107154099	107154099	C	T	TBCK	c.1119G>A	NM_001290768.2	NP_001277697.2:p.(Trp373Ter)	NC_000004.11:g.107154099C>T	(Likely) pathogenic	3 labs	120cf06c17
5:42695025 GHR T>A	5	42695025	42695025	T	A	GHR	c.273T>A	NM_001242400.2	NP_001229329.1:p.(Thr91=)	NC_000005.9:g.42695025T>A	(Likely) benign	2 labs	120fad888f
15:67073700 SMAD6 G>A	15	67073700	67073700	G	A	SMAD6	c.1318G>A	NM_005585.4	NP_005576.3:p.(Asp440Asn)	NC_000015.9:g.67073700G>A	VUS	3 labs	121018307e
16:3777746 CREBBP C>T	16	3777746	3777746	C	T	CREBBP	c.7302G>A	NM_004380.2	NP_004371.2:p.(Thr2434=)	NC_000016.9:g.3777746C>T	(Likely) benign	3 labs	1218b508f7
3:123047478 ADCY5 A>G	3	123047478	123047478	A	G	ADCY5	c.1805+13T>C	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123047478A>G	(Likely) benign	2 labs	e2dbdf544e
X:53615429 HUWE1 G>A	X	53615429	53615429	G	A	HUWE1	c.4527C>T	NM_031407.6	NP_113584.3:p.(Thr1509=)	NC_000023.10:g.53615429G>A	(Likely) benign	2 labs	121ddbae43
5:89990440 ADGRV1 G>A	5	89990440	89990440	G	A	ADGRV1	c.7867G>A	NM_032119.4	NP_115495.3:p.(Glu2623Lys)	NC_000005.9:g.89990440G>A	VUS	2 labs	12352740e1
X:39931908 BCOR C>G	X	39931908	39931908	C	G	BCOR	c.2691G>C	NM_001123385.2	NP_001116857.1:p.(Ser897=)	NC_000023.10:g.39931908C>G	(Likely) benign	2 labs	1234723b3f
17:29654553 NF1 C>T	17	29654553	29654553	C	T	NF1	c.5242C>T	NM_000267.3	NP_000258.1:p.(Arg1748Ter)	NC_000017.10:g.29654553C>T	(Likely) pathogenic	2 labs	12424595eb
2:71192125 ATP6V1B1 C>G	2	71192125	71192125	C	G	ATP6V1B1	c.1416C>G	NM_001692.4	NP_001683.2:p.(Asp472Glu)	NC_000002.11:g.71192125C>G	VUS	2 labs	1247ef48a4
10:13166076 OPTN A>G	10	13166076	13166076	A	G	OPTN	c.964=	NM_001008211.1	NP_001008212.1:p.(Glu322=)	NC_000010.10:g.13166076A>G	(Likely) benign	4 labs	124a3ffe8a
1:235922721 LYST T>C	1	235922721	235922721	T	C	LYST	c.6432A>G	NM_000081.3	NP_000072.2:p.(Ser2144=)	NC_000001.10:g.235922721T>C	(Likely) benign	2 labs	12586b6aa2
4:79360163 FRAS1 T>G	4	79360163	79360163	T	G	FRAS1	c.5474T>G	NM_025074.7	NP_079350.5:p.(Met1825Arg)	NC_000004.11:g.79360163T>G	(Likely) benign	3 labs	125b11fe92
10:104679041 CNNM2 G>T	10	104679041	104679041	G	T	CNNM2	c.804G>T	NM_017649.4	NP_060119.3:p.(Leu268=)	NC_000010.10:g.104679041G>T	(Likely) benign	2 labs	12623fb62b
4:178360787 AGA CA>C	4	178360787	178360789	CA	C	AGA	c.336del	NM_000027.4	NP_000018.2:p.(Ile112MetfsTer16)	NC_000004.11:g.178360789del	(Likely) pathogenic	2 labs	126abbd892
11:76917193 MYO7A G>A	11	76917193	76917193	G	A	MYO7A	c.5688G>A	NM_000260.3	NP_000251.3:p.(Gln1896=)	NC_000011.9:g.76917193G>A	(Likely) benign	2 labs	127a2b4fe6
15:43903129 STRC A>G	15	43903129	43903129	A	G	STRC	c.3360T>C	NM_153700.2	NP_714544.1:p.(Cys1120=)	NC_000015.9:g.43903129A>G	(Likely) benign	2 labs	127a7dec9f
12:88505633 CEP290 A>G	12	88505633	88505633	A	G	CEP290	c.2055T>C	NM_025114.3	NP_079390.3:p.(Ala685=)	NC_000012.11:g.88505633A>G	(Likely) benign	2 labs	127c6cf318
2:179613632 TTN G>A	2	179613632	179613632	G	A	TTN	c.13495C>T	NM_133379.5	NP_596870.2:p.(Gln4499Ter)	NC_000002.11:g.179613632G>A	VUS	2 labs	e2e09cd4d9
13:110822076 COL4A1 G>C	13	110822076	110822076	G	C	COL4A1	c.3776C>G	NM_001845.5	NP_001836.3:p.(Pro1259Arg)	NC_000013.10:g.110822076G>C	(Likely) benign	2 labs	12814cc54e
9:117188509 WHRN G>T	9	117188509	117188509	G	T	WHRN	c.1148C>A	NM_001173425.2	NP_001166896.1:p.(Thr383Asn)	NC_000009.11:g.117188509G>T	VUS	2 labs	1286cf0ccb
17:29557402 NF1 T>G	17	29557402	29557402	T	G	NF1	c.3113+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557402T>G	(Likely) pathogenic	2 labs	128c1e06c3
17:29528053 NF1 A>G	17	29528053	29528053	A	G	NF1	c.1063-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528053A>G	(Likely) pathogenic	2 labs	1295688ed0
22:40814749 MRTFA C>T	22	40814749	40814749	C	T	MRTFA				NC_000022.10:g.40814749C>T	(Likely) benign	2 labs	129ed1facf
19:4817288 TICAM1 AAGG>A	19	4817288	4817312	AAGG	A	TICAM1	c.1099_1101del	NM_182919.4	NP_891549.1:p.(Pro367del)	NC_000019.9:g.4817310_4817312del	(Likely) benign	2 labs	12a4990b16
X:53407996 SMC1A G>A	X	53407996	53407996	G	A	SMC1A	c.3384C>T	NM_001281463.1	NP_001268392.1:p.(Ala1128=)	NC_000023.10:g.53407996G>A	(Likely) benign	2 labs	12b00f5627
9:304628 DOCK8 G>A	9	304628	304628	G	A	DOCK8	c.452G>A	NM_203447.4	NP_982272.2:p.(Arg151Gln)	NC_000009.11:g.304628G>A	VUS	2 labs	12b13a38bc
17:78064052 CCDC40 CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA>C	17	78064052	78064156	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C	CCDC40	c.2959_3051del	NM_001243342.2	NP_001230271.1:p.(Gly987_Arg1017del)	NC_000017.10:g.78064064_78064156del	(Likely) benign	3 labs	e2e2287a36
16:15931819 MYH11 G>A	16	15931819	15931819	G	A	MYH11	c.291C>T	NM_001040113.2	NP_001035202.1:p.(Asn97=)	NC_000016.9:g.15931819G>A	(Likely) benign	3 labs	12b5a75ed5
11:68197128 LRP5 A>G	11	68197128	68197128	A	G	LRP5	c.3723A>G	NM_002335.4	NP_002326.2:p.(Pro1241=)	NC_000011.9:g.68197128A>G	(Likely) benign	2 labs	12b8bfc259
1:237961363 RYR2 C>T	1	237961363	237961363	C	T	RYR2	c.13983C>T	NM_001035.3	NP_001026.2:p.(Tyr4661=)	NC_000001.10:g.237961363C>T	(Likely) benign	6 labs	12d0e6a629
8:27645419 ESCO2 A>C	8	27645419	27645419	A	C	ESCO2	c.1031A>C	NM_001017420.2	NP_001017420.1:p.(Gln344Pro)	NC_000008.10:g.27645419A>C	(Likely) benign	2 labs	12cb23ddf7
1:103468326 COL11A1 G>A	1	103468326	103468326	G	A	COL11A1	c.2056C>T	NM_080629.2	NP_542196.2:p.(Pro686Ser)	NC_000001.10:g.103468326G>A	VUS	2 labs	12cc3ae13d
2:47637477 MSH2 G>A	2	47637477	47637477	G	A	MSH2	c.611G>A	NM_000251.3	NP_000242.1:p.(Gly204Glu)	NC_000002.11:g.47637477G>A	VUS	2 labs	e2eb7b9816
4:178360748 AGA G>C	4	178360748	178360748	G	C	AGA	c.376C>G	NM_000027.3	NP_000018.2:p.(Leu126Val)	NC_000004.11:g.178360748G>C	VUS	2 labs	12da5b5136
10:12126716 DHTKD1 G>A	10	12126716	12126716	G	A	DHTKD1	c.488G>A	NM_018706.7	NP_061176.4:p.(Arg163Gln)	NC_000010.10:g.12126716G>A	(Likely) benign	4 labs	12eac375a9
12:32996253 PKP2 C>T	12	32996253	32996253	C	T	PKP2	c.1379-6G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32996253C>T	(Likely) benign	2 labs	12e495d4ca
X:15588474 ACE2 C>A	X	15588474	15588474	C	A	ACE2	c.1840G>T	NM_021804.2	NP_068576.1:p.(Ala614Ser)	NC_000023.10:g.15588474C>A	(Likely) benign	2 labs	12ea145126
5:121413040 LOX G>A	5	121413040	121413040	G	A	LOX	c.631+10C>T	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121413040G>A	(Likely) benign	2 labs	12e40e0065
1:160100205 ATP1A2 C>A	1	160100205	160100205	C	A	ATP1A2				NC_000001.10:g.160100205C>A	(Likely) benign	3 labs	12f1f37bed
9:14784398 FREM1 C>T	9	14784398	14784398	C	T	FREM1	c.4412G>A	NM_144966.5	NP_659403.4:p.(Ser1471Asn)	NC_000009.11:g.14784398C>T	(Likely) benign	2 labs	12f2c53140
12:116422057 MED13L G>T	12	116422057	116422057	G	T	MED13L	c.4459C>A	NM_015335.4	NP_056150.1:p.(Pro1487Thr)	NC_000012.11:g.116422057G>T	(Likely) benign	2 labs	12f764564b
14:68274324 ZFYVE26 C>T	14	68274324	68274324	C	T	ZFYVE26	c.677G>A	NM_015346.3	NP_056161.2:p.(Arg226His)	NC_000014.8:g.68274324C>T	(Likely) benign	3 labs	12f7eed402
16:88870369 CDT1 A>C	16	88870369	88870369	A	C	CDT1	c.130A>C	NM_030928.3	NP_112190.2:p.(Thr44Pro)	NC_000016.9:g.88870369A>C	(Likely) benign	2 labs	130347d2ee
22:51020205 CHKB TG>T	22	51020205	51020208	TG	T	CHKB	c.419del	NM_005198.5	NP_005189.2:p.(Pro140GlnfsTer14)	NC_000022.10:g.51020208del	(Likely) pathogenic	2 labs	1306d5848c
16:2546328 TBC1D24 G>A	16	2546328	2546328	G	A	TBC1D24	c.179G>A	NM_001199107.2	NP_001186036.1:p.(Arg60Gln)	NC_000016.9:g.2546328G>A	(Likely) benign	2 labs	131f357158
7:42187981 GLI3 C>T	7	42187981	42187981	C	T	GLI3	c.211G>A	NM_000168.5	NP_000159.3:p.(Val71Ile)	NC_000007.13:g.42187981C>T	(Likely) benign	2 labs	13251d1f17
5:94838575 SKIC3 T>C	5	94838575	94838575	T	C	SKIC3	c.3341+9A>G	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94838575T>C	(Likely) benign	3 labs	13284ef7a9
14:23856791 MYH6 T>C	14	23856791	23856791	T	C	MYH6	c.4597A>G	NM_002471.3	NP_002462.2:p.(Lys1533Glu)	NC_000014.8:g.23856791T>C	VUS	2 labs	13297e10c1
1:156108365 LMNA C>T	1	156108365	156108365	C	T	LMNA				NC_000001.10:g.156108365C>T	(Likely) benign	2 labs	132c9dc408
4:88537501 DSPP T>C	4	88537501	88537501	T	C	DSPP	c.3687T>C	NM_014208.3	NP_055023.2:p.(Ser1229=)	NC_000004.11:g.88537501T>C	(Likely) benign	2 labs	132b931f81
3:119084247 ARHGAP31 C>T	3	119084247	119084247	C	T	ARHGAP31	c.185C>T	NM_020754.4	NP_065805.2:p.(Ser62Leu)	NC_000003.11:g.119084247C>T	VUS	2 labs	e2fa8e6ee0
19:15296162 NOTCH3 G>A	19	15296162	15296162	G	A	NOTCH3	c.2202C>T	NM_000435.3	NP_000426.2:p.(Ala734=)	NC_000019.9:g.15296162G>A	(Likely) benign	3 labs	0039b97c39
2:73679013 ALMS1 A>G	2	73679013	73679013	A	G	ALMS1	c.5359A>G	NM_001378454.1	NP_001365383.1:p.(Asn1787Asp)	NC_000002.11:g.73679013A>G	(Likely) benign	4 labs	006f77ed4c
2:170137037 LRP2 C>T	2	170137037	170137037	C	T	LRP2	c.1172-8G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170137037C>T	(Likely) benign	2 labs	00c6e6cc9b
2:179486037 TTN C>A	2	179486037	179486037	C	A	TTN	c.45408G>T	NM_001267550.2	NP_001254479.2:p.(Lys15136Asn)	NC_000002.11:g.179486037C>A	(Likely) benign	6 labs	010f69d357
14:64537498 SYNE2 A>C	14	64537498	64537498	A	C	SYNE2	c.10567A>C	NM_182914.3	NP_878918.2:p.(Lys3523Gln)	NC_000014.8:g.64537498A>C	(Likely) benign	2 labs	0170bb4629
9:35809385 NPR2 A>C	9	35809385	35809385	A	C	NPR2	c.3087A>C	NM_003995.4	NP_003986.2:p.(Gly1029=)	NC_000009.11:g.35809385A>C	(Likely) benign	2 labs	01a4b43cf0
7:140501350 BRAF G>A	7	140501350	140501350	G	A	BRAF	c.722C>T	NM_004333.5	NP_004324.2:p.(Thr241Met)	NC_000007.13:g.140501350G>A	(Likely) pathogenic	2 labs	01a6a1afed
2:179544427 TTN A>G	2	179544427	179544427	A	G	TTN	c.33581-18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544427A>G	(Likely) benign	4 labs	01f29ba709
15:99192894 IGF1R G>A	15	99192894	99192894	G	A	IGF1R	c.84G>A	NM_000875.5	NP_000866.1:p.(Thr28=)	NC_000015.9:g.99192894G>A	(Likely) benign	2 labs	01ffd46194
20:10393439 MKKS C>A	20	10393439	10393439	C	A	MKKS	c.724G>T	NM_170784.3	NP_740754.1:p.(Ala242Ser)	NC_000020.10:g.10393439C>A	(Likely) benign	4 labs	020e177bb7
13:32905116 BRCA2 G>A	13	32905116	32905116	G	A	BRCA2	c.742G>A	NM_000059.4	NP_000050.3:p.(Ala248Thr)	NC_000013.10:g.32905116G>A	(Likely) benign	2 labs	022341a00c
14:45665661 FANCM A>G	14	45665661	45665661	A	G	FANCM	c.5627A>G	NM_020937.4	NP_065988.1:p.(Asn1876Ser)	NC_000014.8:g.45665661A>G	(Likely) benign	2 labs	0231cf9250
15:89388894 ACAN A>G	15	89388894	89388894	A	G	ACAN	c.1210A>G	NM_001369268.1	NP_001356197.1:p.(Ile404Val)	NC_000015.9:g.89388894A>G	(Likely) benign	2 labs	024a1b5826
10:43622095 RET A>G	10	43622095	43622095	A	G	RET	c.3112A>G	NM_020975.6	NP_066124.1:p.(Thr1038Ala)	NC_000010.10:g.43622095A>G	(Likely) benign	5 labs	025b37961d
2:179549131 TTN C>T	2	179549131	179549131	C	T	TTN	c.32648G>A	NM_001267550.2	NP_001254479.2:p.(Arg10883Lys)	NC_000002.11:g.179549131C>T	(Likely) benign	5 labs	025c29a650
2:179589058 TTN G>A	2	179589058	179589058	G	A	TTN	c.21044C>T	NM_001267550.2	NP_001254479.2:p.(Ala7015Val)	NC_000002.11:g.179589058G>A	(Likely) benign	5 labs	026517481c
17:8141707 CTC1 T>C	17	8141707	8141707	T	C	CTC1	c.435+3A>G	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8141707T>C	(Likely) benign	2 labs	027e0b6931
11:108099888 ATM A>G	11	108099888	108099888	A	G	ATM	c.186-17A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108099888A>G	(Likely) benign	4 labs	0289f30c42
7:45104124 CCM2 G>A	7	45104124	45104124	G	A	CCM2	c.351G>A	NM_031443.4	NP_113631.1:p.(Ala117=)	NC_000007.13:g.45104124G>A	(Likely) benign	2 labs	028cfaa4f8
13:32968951 BRCA2 C>T	13	32968951	32968951	C	T	BRCA2	c.9382C>T	NM_000059.4	NP_000050.3:p.(Arg3128Ter)	NC_000013.10:g.32968951C>T	(Likely) pathogenic	7 labs	02c2f5dcdc
16:2133727 TSC2 G>A	16	2133727	2133727	G	A	TSC2	c.3915G>A	NM_000548.5	NP_000539.2:p.(Pro1305=)	NC_000016.9:g.2133727G>A	(Likely) benign	3 labs	02c59f0cdd
19:39034051 RYR1 T>A	19	39034051	39034051	T	A	RYR1	c.11754T>A	NM_000540.3	NP_000531.2:p.(Thr3918=)	NC_000019.9:g.39034051T>A	(Likely) benign	2 labs	02eb55f5f3
9:135946015 CEL T>C	9	135946015	135946015	T	C	CEL	c.1454T>C	NM_001807.6	NP_001798.3:p.(Ile485Thr)	NC_000009.11:g.135946015T>C	(Likely) benign	2 labs	0340c74cea
1:120612006 NOTCH2 G>C	1	120612006	120612006	G	C	NOTCH2	c.15C>G	NM_024408.4	NP_077719.2:p.(Arg5=)	NC_000001.10:g.120612006G>C	(Likely) benign	2 labs	038aa7f9da
2:179438235 TTN T>C	2	179438235	179438235	T	C	TTN	c.72624A>G	NM_001267550.2	NP_001254479.2:p.(Pro24208=)	NC_000002.11:g.179438235T>C	(Likely) benign	5 labs	039e600192
12:124221796 ATP6V0A2 G>A	12	124221796	124221796	G	A	ATP6V0A2	c.1016G>A	NM_012463.4	NP_036595.2:p.(Arg339His)	NC_000012.11:g.124221796G>A	(Likely) benign	2 labs	03b9a76e53
2:179472292 TTN T>A	2	179472292	179472292	T	A	TTN	c.53123A>T	NM_001267550.2	NP_001254479.2:p.(Lys17708Ile)	NC_000002.11:g.179472292T>A	(Likely) benign	4 labs	03c24c496b
2:179529273 TTN A>G	2	179529273	179529273	A	G	TTN	c.36203-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529273A>G	(Likely) benign	3 labs	03cbc485d1
9:98238403 PTCH1 G>A	9	98238403	98238403	G	A	PTCH1	c.1641C>T	NM_000264.5	NP_000255.2:p.(Ser547=)	NC_000009.11:g.98238403G>A	(Likely) benign	2 labs	03f10f7ef6
5:127681100 FBN2 C>A	5	127681100	127681100	C	A	FBN2	c.3166G>T	NM_001999.4	NP_001990.2:p.(Ala1056Ser)	NC_000005.9:g.127681100C>A	(Likely) benign	2 labs	040c2dec12
2:71762413 DYSF G>A	2	71762413	71762413	G	A	DYSF	c.1465G>A	NM_001130987.2	NP_001124459.1:p.(Glu489Lys)	NC_000002.11:g.71762413G>A	(Likely) benign	3 labs	041f091f16
19:7163083 INSR C>T	19	7163083	7163083	C	T	INSR	c.1989G>A	NM_000208.4	NP_000199.2:p.(Ala663=)	NC_000019.9:g.7163083C>T	(Likely) benign	3 labs	0420b363b7
21:43795896 TMPRSS3 C>T	21	43795896	43795896	C	T	TMPRSS3	c.1276G>A	NM_024022.4	NP_076927.1:p.(Ala426Thr)	NC_000021.8:g.43795896C>T	(Likely) pathogenic	2 labs	0459efd786
2:152410513 NEB C>T	2	152410513	152410513	C	T	NEB	c.19455G>A	NM_001164508.2	NP_001157980.2:p.(Lys6485=)	NC_000002.11:g.152410513C>T	(Likely) benign	2 labs	046f527e03
17:59763272 BRIP1 G>C	17	59763272	59763272	G	C	BRIP1	c.2830C>G	NM_032043.3	NP_114432.2:p.(Gln944Glu)	NC_000017.10:g.59763272G>C	(Likely) benign	2 labs	0508aed638
2:219677690 CYP27A1 A>G	2	219677690	219677690	A	G	CYP27A1	c.888A>G	NM_000784.4	NP_000775.1:p.(Gln296=)	NC_000002.11:g.219677690A>G	(Likely) benign	2 labs	0511ac0be3
2:179441386 TTN G>A	2	179441386	179441386	G	A	TTN	c.69585C>T	NM_001267550.2	NP_001254479.2:p.(Ser23195=)	NC_000002.11:g.179441386G>A	(Likely) benign	5 labs	052b411bc3
7:31016038 GHRHR C>A	7	31016038	31016038	C	A	GHRHR	c.975-6C>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016038C>A	(Likely) benign	3 labs	052c27fe0f
2:179640768 TTN T>C	2	179640768	179640768	T	C	TTN	c.5823A>G	NM_001267550.2	NP_001254479.2:p.(Arg1941=)	NC_000002.11:g.179640768T>C	(Likely) benign	6 labs	05334b034f
6:35423886 FANCE C>T	6	35423886	35423886	C	T	FANCE	c.611C>T	NM_021922.3	NP_068741.1:p.(Ser204Leu)	NC_000006.11:g.35423886C>T	(Likely) benign	2 labs	0534fb5cac
8:10467653 RP1L1 C>T	8	10467653	10467653	C	T	RP1L1	c.3955G>A	NM_178857.6	NP_849188.4:p.(Ala1319Thr)	NC_000008.10:g.10467653C>T	(Likely) benign	3 labs	05637f24d1
10:27306492 ANKRD26 A>G	10	27306492	27306492	A	G	ANKRD26	c.4445T>C	NM_014915.3	NP_055730.2:p.(Ile1482Thr)	NC_000010.10:g.27306492A>G	(Likely) benign	3 labs	0563c712fd
2:179544055 TTN T>C	2	179544055	179544055	T	C	TTN	c.33742+11A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544055T>C	(Likely) benign	5 labs	05952bab6a
19:39034534 RYR1 T>C	19	39034534	39034534	T	C	RYR1	c.12012+19T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39034534T>C	(Likely) benign	3 labs	05a8b35c93
15:91557034 VPS33B C>T	15	91557034	91557034	C	T	VPS33B	c.357G>A	NM_018668.5	NP_061138.3:p.(Lys119=)	NC_000015.9:g.91557034C>T	(Likely) benign	2 labs	05ae6c7497
15:89873415 POLG G>A	15	89873415	89873415	G	A	POLG	c.752C>T	NM_002693.2	NP_002684.1:p.(Thr251Ile)	NC_000015.9:g.89873415G>A	(Likely) pathogenic	6 labs	05da2ed468
2:238244921 COL6A3 G>A	2	238244921	238244921	G	A	COL6A3	c.8822C>T	NM_004369.4	NP_004360.2:p.(Ala2941Val)	NC_000002.11:g.238244921G>A	(Likely) benign	3 labs	06063d4b0f
2:179404498 TTN G>C	2	179404498	179404498	G	C	TTN	c.98294C>G	NM_001267550.2	NP_001254479.2:p.(Ala32765Gly)	NC_000002.11:g.179404498G>C	(Likely) benign	6 labs	0624f324fa
13:111142112 COL4A2 G>A	13	111142112	111142112	G	A	COL4A2	c.3326G>A	NM_001846.4	NP_001837.2:p.(Arg1109Gln)	NC_000013.10:g.111142112G>A	(Likely) benign	2 labs	063d421426
2:152520258 NEB C>T	2	152520258	152520258	C	T	NEB	c.5567G>A	NM_001164508.2	NP_001157980.2:p.(Arg1856Gln)	NC_000002.11:g.152520258C>T	(Likely) benign	2 labs	06506704bf
14:75515668 MLH3 T>G	14	75515668	75515668	T	G	MLH3	c.691A>C	NM_001040108.2	NP_001035197.1:p.(Lys231Gln)	NC_000014.8:g.75515668T>G	(Likely) benign	2 labs	0668c4182f
19:11319598 DOCK6 C>T	19	11319598	11319598	C	T	DOCK6	c.4933G>A	NM_020812.4	NP_065863.2:p.(Val1645Ile)	NC_000019.9:g.11319598C>T	(Likely) benign	2 labs	0669e6966d
17:7579355 TP53 A>G	17	7579355	7579355	A	G	TP53	c.332T>C	NM_000546.6	NP_000537.3:p.(Leu111Pro)	NC_000017.10:g.7579355A>G	(Likely) pathogenic	2 labs	0672128486
21:47549297 COL6A2 C>T	21	47549297	47549297	C	T	COL6A2	c.2462-2571C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549297C>T	(Likely) benign	2 labs	06d94c3b76
6:74331688 SLC17A5 G>A	6	74331688	74331688	G	A	SLC17A5	c.820-3C>T	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74331688G>A	(Likely) benign	3 labs	06da9ff470
14:45658024 FANCM C>T	14	45658024	45658024	C	T	FANCM	c.4799C>T	NM_020937.4	NP_065988.1:p.(Thr1600Ile)	NC_000014.8:g.45658024C>T	(Likely) benign	3 labs	073b42e02c
12:49448463 KMT2D C>T	12	49448463	49448463	C	T	KMT2D	c.248G>A	NM_003482.4	NP_003473.3:p.(Arg83Gln)	NC_000012.11:g.49448463C>T	(Likely) benign	3 labs	07b2f38926
20:31383238 DNMT3B G>A	20	31383238	31383238	G	A	DNMT3B	c.1150G>A	NM_006892.4	NP_008823.1:p.(Ala384Thr)	NC_000020.10:g.31383238G>A	(Likely) benign	3 labs	07c08a8293
17:41244062 BRCA1 AT>A	17	41244062	41244063	AT	A	BRCA1	c.3485del	NM_007294.4	NP_009225.1:p.(Asp1162ValfsTer48)	NC_000017.10:g.41244063del	(Likely) pathogenic	5 labs	07c3028fd6
5:80057353 MSH3 CTT>C	5	80057353	80057357	CTT	C	MSH3	c.1764-9_1764-8del	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80057356_80057357del	(Likely) benign	2 labs	07cb9d1057
2:179416801 TTN A>C	2	179416801	179416801	A	C	TTN	c.90826T>G	NM_001267550.2	NP_001254479.2:p.(Cys30276Gly)	NC_000002.11:g.179416801A>C	(Likely) benign	5 labs	07d84541db
2:179414800 TTN C>T	2	179414800	179414800	C	T	TTN	c.91765G>A	NM_001267550.2	NP_001254479.2:p.(Ala30589Thr)	NC_000002.11:g.179414800C>T	(Likely) benign	5 labs	07e2c235c5
16:2143753 PKD1 G>A	16	2143753	2143753	G	A	PKD1	c.10822-14C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2143753G>A	(Likely) benign	2 labs	0808583dad
19:39010023 RYR1 C>T	19	39010023	39010023	C	T	RYR1	c.10188C>T	NM_000540.3	NP_000531.2:p.(Asp3396=)	NC_000019.9:g.39010023C>T	(Likely) benign	2 labs	080f74d805
1:201035429 CACNA1S G>A	1	201035429	201035429	G	A	CACNA1S	c.2673C>T	NM_000069.3	NP_000060.2:p.(Ser891=)	NC_000001.10:g.201035429G>A	(Likely) benign	2 labs	0821e99373
4:1806044 FGFR3 C>T	4	1806044	1806044	C	T	FGFR3	c.1076-13C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1806044C>T	(Likely) benign	3 labs	0822ae94d3
11:108138045 ATM C>T	11	108138045	108138045	C	T	ATM	c.2614C>T	NM_000051.4	NP_000042.3:p.(Pro872Ser)	NC_000011.9:g.108138045C>T	(Likely) benign	6 labs	082af9796e
2:179425343 TTN G>T	2	179425343	179425343	G	T	TTN	c.85516C>A	NM_001267550.2	NP_001254479.2:p.(Gln28506Lys)	NC_000002.11:g.179425343G>T	(Likely) benign	5 labs	086cc3c64b
3:47037253 NBEAL2 G>A	3	47037253	47037253	G	A	NBEAL2	c.1948G>A	NM_015175.2	NP_055990.1:p.(Gly650Arg)	NC_000003.11:g.47037253G>A	(Likely) benign	2 labs	089357f8b0
13:32914255 BRCA2 T>G	13	32914255	32914255	T	G	BRCA2	c.5763T>G	NM_000059.4	NP_000050.3:p.(Phe1921Leu)	NC_000013.10:g.32914255T>G	(Likely) benign	5 labs	08bcabe158
17:39919401 JUP C>T	17	39919401	39919401	C	T	JUP	c.1331G>A	NM_002230.4	NP_002221.1:p.(Arg444His)	NC_000017.10:g.39919401C>T	VUS	3 labs	08f4b3fd8b
17:59926567 BRIP1 C>T	17	59926567	59926567	C	T	BRIP1	c.430G>A	NM_032043.3	NP_114432.2:p.(Ala144Thr)	NC_000017.10:g.59926567C>T	(Likely) benign	3 labs	09003e6fd0
2:179399451 TTN C>T	2	179399451	179399451	C	T	TTN	c.101891G>A	NM_001267550.2	NP_001254479.2:p.(Arg33964His)	NC_000002.11:g.179399451C>T	(Likely) benign	5 labs	09596c6f82
12:88508258 CEP290 T>C	12	88508258	88508258	T	C	CEP290	c.1991A>G	NM_025114.4	NP_079390.3:p.(Asp664Gly)	NC_000012.11:g.88508258T>C	(Likely) benign	3 labs	098b1b6f75
16:31470886 ARMC5 T>A	16	31470886	31470886	T	A	ARMC5	c.41T>A	NM_001105247.2	NP_001098717.1:p.(Phe14Tyr)	NC_000016.9:g.31470886T>A	(Likely) benign	2 labs	0995db5453
2:48033791 MSH6 G>GTAAC	2	48033791	48033805	G	GTAAC	MSH6	c.4001+12_4001+15dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033802_48033805dup	(Likely) benign	3 labs	09968ae897
16:2161097 PKD1 CA>C	16	2161097	2161098	CA	C	PKD1	c.4070del	NM_001009944.3	NP_001009944.3:p.(Leu1357ArgfsTer9)	NC_000016.9:g.2161098del	(Likely) pathogenic	2 labs	09d2c3115e
3:10080987 FANCD2 A>G	3	10080987	10080987	A	G	FANCD2	c.516A>G	NM_001018115.3	NP_001018125.1:p.(Ile172Met)	NC_000003.11:g.10080987A>G	(Likely) benign	2 labs	09e3653c45
19:8656994 ADAMTS10 G>C	19	8656994	8656994	G	C	ADAMTS10	c.1588-7C>G	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8656994G>C	(Likely) benign	2 labs	09eb21b292
5:155935631 SGCD G>A	5	155935631	155935631	G	A	SGCD	c.213G>A	NM_000337.6	NP_000328.2:p.(Arg71=)	NC_000005.9:g.155935631G>A	(Likely) benign	4 labs	09f48fc0b6
15:89401184 ACAN T>A	15	89401184	89401184	T	A	ACAN	c.5368T>A	NM_001369268.1	NP_001356197.1:p.(Ser1790Thr)	NC_000015.9:g.89401184T>A	(Likely) benign	2 labs	0a264afa1d
10:88679200 BMPR1A C>T	10	88679200	88679200	C	T	BMPR1A	c.1140C>T	NM_004329.3	NP_004320.2:p.(Asp380=)	NC_000010.10:g.88679200C>T	(Likely) benign	3 labs	0a51c67e12
2:179612883 TTN A>G	2	179612883	179612883	A	G	TTN	c.11311+4968T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612883A>G	(Likely) benign	4 labs	0a53f7cf0a
16:23637686 PALB2 A>C	16	23637686	23637686	A	C	PALB2	c.2619T>G	NM_024675.4	NP_078951.2:p.(Ser873Arg)	NC_000016.9:g.23637686A>C	VUS	3 labs	0ad72e7da7
5:225515 SDHA G>T	5	225515	225515	G	T	SDHA	c.313-19G>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.225515G>T	(Likely) benign	5 labs	0b8c046f60
11:102980505 DYNC2H1 T>C	11	102980505	102980505	T	C	DYNC2H1	c.195+7T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.102980505T>C	(Likely) benign	2 labs	0bd38dd388
13:32912361 BRCA2 G>A	13	32912361	32912361	G	A	BRCA2	c.3869G>A	NM_000059.4	NP_000050.3:p.(Cys1290Tyr)	NC_000013.10:g.32912361G>A	(Likely) benign	6 labs	0c059ef5ed
16:2166538 PKD1 G>A	16	2166538	2166538	G	A	PKD1	c.1714C>T	NM_001009944.3	NP_001009944.3:p.(Pro572Ser)	NC_000016.9:g.2166538G>A	(Likely) benign	2 labs	0c1a8ccb22
9:130616621 ENG G>A	9	130616621	130616621	G	A	ENG	c.14C>T	NM_001114753.3	NP_001108225.1:p.(Thr5Met)	NC_000009.11:g.130616621G>A	(Likely) benign	4 labs	0c275419fa
8:145001221 PLEC T>C	8	145001221	145001221	T	C	PLEC	c.3869A>G	NM_201384.3	NP_958786.1:p.(Lys1290Arg)	NC_000008.10:g.145001221T>C	(Likely) benign	2 labs	0c711fbd75
11:108201127 ATM T>C	11	108201127	108201127	T	C	ATM	c.7494T>C	NM_000051.4	NP_000042.3:p.(Ser2498=)	NC_000011.9:g.108201127T>C	(Likely) benign	2 labs	0ca2a33a4d
7:128489228 FLNC T>C	7	128489228	128489228	T	C	FLNC	c.4928-7T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489228T>C	(Likely) benign	5 labs	0ca6ae31a5
19:50902196 POLD1 C>T	19	50902196	50902196	C	T	POLD1	c.88C>T	NM_002691.4	NP_002682.2:p.(Arg30Trp)	NC_000019.9:g.50902196C>T	(Likely) benign	3 labs	0cc14f3274
2:179478639 TTN T>A	2	179478639	179478639	T	A	TTN	c.49371A>T	NM_001267550.2	NP_001254479.2:p.(Leu16457=)	NC_000002.11:g.179478639T>A	(Likely) benign	5 labs	0cc9cd2b7a
9:139401233 NOTCH1 C>T	9	139401233	139401233	C	T	NOTCH1	c.3836G>A	NM_017617.5	NP_060087.3:p.(Arg1279His)	NC_000009.11:g.139401233C>T	(Likely) benign	6 labs	0cced38c60
13:32912008 BRCA2 G>A	13	32912008	32912008	G	A	BRCA2	c.3516G>A	NM_000059.4	NP_000050.3:p.(Ser1172=)	NC_000013.10:g.32912008G>A	(Likely) benign	7 labs	0d32d9bb46
2:179401742 TTN C>T	2	179401742	179401742	C	T	TTN	c.100094G>A	NM_001267550.2	NP_001254479.2:p.(Arg33365Gln)	NC_000002.11:g.179401742C>T	(Likely) benign	4 labs	0d64aa932b
22:41542780 EP300 T>G	22	41542780	41542780	T	G	EP300	c.2091T>G	NM_001429.4	NP_001420.2:p.(Ser697Arg)	NC_000022.10:g.41542780T>G	(Likely) benign	2 labs	0dd186aaeb
12:133257837 POLE C>A	12	133257837	133257837	C	A	POLE	c.91G>T	NM_006231.4	NP_006222.2:p.(Ala31Ser)	NC_000012.11:g.133257837C>A	(Likely) benign	4 labs	0dd29c154c
2:179407097 TTN G>A	2	179407097	179407097	G	A	TTN	c.97386C>T	NM_001267550.2	NP_001254479.2:p.(Thr32462=)	NC_000002.11:g.179407097G>A	(Likely) benign	6 labs	0de24606c2
19:1226544 STK11 G>A	19	1226544	1226544	G	A	STK11	c.1200G>A	NM_000455.5	NP_000446.1:p.(Leu400=)	NC_000019.9:g.1226544G>A	(Likely) benign	2 labs	0def6852a8
2:179578108 TTN T>TACAAAACAAAACAAAACAAA	2	179578108	179578139	T	TACAAAACAAAACAAAACAAA	TTN	c.26762-29_26762-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578120_179578139dup	(Likely) benign	5 labs	0e2a8af2a2
11:108124628 ATM T>C	11	108124628	108124628	T	C	ATM	c.1986T>C	NM_000051.4	NP_000042.3:p.(Phe662=)	NC_000011.9:g.108124628T>C	(Likely) benign	7 labs	0e2f5f51d3
2:215645502 BARD1 GTGGTGAAGAACATTCAGGCAA>G	2	215645502	215645527	GTGGTGAAGAACATTCAGGCAA	G	BARD1	c.1075_1095del	NM_000465.4	NP_000456.2:p.(Leu359_Pro365del)	NC_000002.11:g.215645507_215645527del	(Likely) benign	5 labs	0e2fcaa34e
16:2141796 PKD1 G>A	16	2141796	2141796	G	A	PKD1	c.11523C>T	NM_001009944.3	NP_001009944.3:p.(Asn3841=)	NC_000016.9:g.2141796G>A	(Likely) benign	2 labs	0e32c44753
2:179401740 TTN C>T	2	179401740	179401740	C	T	TTN	c.100096G>A	NM_001267550.2	NP_001254479.2:p.(Val33366Ile)	NC_000002.11:g.179401740C>T	(Likely) benign	4 labs	0e57cbdc4b
11:108163487 ATM C>T	11	108163487	108163487	C	T	ATM	c.4578C>T	NM_000051.4	NP_000042.3:p.(Pro1526=)	NC_000011.9:g.108163487C>T	(Likely) benign	6 labs	0ec43b2bb2
13:25487001 CPAP G>C	13	25487001	25487001	G	C	CPAP	c.163C>G	NM_018451.5	NP_060921.3:p.(Pro55Ala)	NC_000013.10:g.25487001G>C	(Likely) benign	2 labs	0ed3cead93
13:111143601 COL4A2 A>G	13	111143601	111143601	A	G	COL4A2	c.3368A>G	NM_001846.4	NP_001837.2:p.(Glu1123Gly)	NC_000013.10:g.111143601A>G	(Likely) benign	4 labs	0ed8abb6b5
11:108122592 ATM C>G	11	108122592	108122592	C	G	ATM	c.1636C>G	NM_000051.4	NP_000042.3:p.(Leu546Val)	NC_000011.9:g.108122592C>G	(Likely) benign	6 labs	0ee5299ee5
2:238253152 COL6A3 C>T	2	238253152	238253152	C	T	COL6A3	c.7509G>A	NM_004369.4	NP_004360.2:p.(Arg2503=)	NC_000002.11:g.238253152C>T	(Likely) benign	4 labs	0ee5f1b01f
19:7184651 INSR G>GGAGA	19	7184651	7184672	G	GGAGA	INSR	c.653-7_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184669_7184672dup	(Likely) benign	2 labs	0efec113fd
X:32429940 DMD A>C	X	32429940	32429940	A	C	DMD	c.4162T>G	NM_004006.3	NP_003997.2:p.(Phe1388Val)	NC_000023.10:g.32429940A>C	(Likely) benign	3 labs	0f13660825
2:48030692 MSH6 T>A	2	48030692	48030692	T	A	MSH6	c.3306T>A	NM_000179.3	NP_000170.1:p.(Thr1102=)	NC_000002.11:g.48030692T>A	(Likely) benign	4 labs	0f204a3ec2
11:94203652 MRE11 G>C	11	94203652	94203652	G	C	MRE11	c.1002C>G	NM_005591.4	NP_005582.1:p.(Ser334Arg)	NC_000011.9:g.94203652G>C	(Likely) benign	2 labs	0f4c143090
10:89720597 PTEN ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTT>A	10	89720597	89720637	ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTT	A	PTEN	c.802-51_802-14del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720600_89720637del	(Likely) benign	4 labs	0f5765dd4d
17:56440642 RNF43 C>T	17	56440642	56440642	C	T	RNF43	c.576G>A	NM_017763.6	NP_060233.3:p.(Pro192=)	NC_000017.10:g.56440642C>T	(Likely) benign	2 labs	100812a05e
14:89307227 TTC8 A>G	14	89307227	89307227	A	G	TTC8	c.284A>G	NM_144596.4	NP_653197.2:p.(Lys95Arg)	NC_000014.8:g.89307227A>G	(Likely) benign	3 labs	10203ec4fd
9:4117942 GLIS3 G>T	9	4117942	4117942	G	T	GLIS3	c.1536C>A	NM_001042413.2	NP_001035878.1:p.(Asp512Glu)	NC_000009.11:g.4117942G>T	(Likely) benign	2 labs	102a03c67f
2:240061400 HDAC4 C>T	2	240061400	240061400	C	T	HDAC4	c.958G>A	NM_001378414.1	NP_001365343.1:p.(Val320Ile)	NC_000002.11:g.240061400C>T	(Likely) benign	2 labs	10468fdcd2
13:32911452 BRCA2 A>T	13	32911452	32911452	A	T	BRCA2	c.2960A>T	NM_000059.4	NP_000050.3:p.(Asn987Ile)	NC_000013.10:g.32911452A>T	(Likely) benign	6 labs	1050c41783
5:112111310 APC A>T	5	112111310	112111310	A	T	APC	c.423-16A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111310A>T	(Likely) benign	2 labs	107f9fd979
2:179477267 TTN T>G	2	179477267	179477267	T	G	TTN	c.49985A>C	NM_001267550.2	NP_001254479.2:p.(Asn16662Thr)	NC_000002.11:g.179477267T>G	(Likely) benign	6 labs	1091aa32eb
6:152485381 SYNE1 G>A	6	152485381	152485381	G	A	SYNE1	c.23707C>T	NM_182961.4	NP_892006.3:p.(His7903Tyr)	NC_000006.11:g.152485381G>A	VUS	3 labs	10edfb7366
9:131341997 SPTAN1 T>G	9	131341997	131341997	T	G	SPTAN1	c.1303T>G	NM_001130438.3	NP_001123910.1:p.(Ser435Ala)	NC_000009.11:g.131341997T>G	(Likely) benign	2 labs	112da7e904
14:76330191 TTLL5 C>T	14	76330191	76330191	C	T	TTLL5	c.3508C>T	NM_015072.5	NP_055887.3:p.(Arg1170Ter)	NC_000014.8:g.76330191C>T	(Likely) pathogenic	2 labs	11416eba06
4:79176444 FRAS1 G>A	4	79176444	79176444	G	A	FRAS1	c.518G>A	NM_025074.7	NP_079350.5:p.(Arg173Gln)	NC_000004.11:g.79176444G>A	(Likely) benign	2 labs	1158bf9d43
16:2140294 PKD1 C>T	16	2140294	2140294	C	T	PKD1	c.12436G>A	NM_001009944.3	NP_001009944.3:p.(Val4146Ile)	NC_000016.9:g.2140294C>T	(Likely) benign	2 labs	1185d5e1f1
4:1801219 FGFR3 C>T	4	1801219	1801219	C	T	FGFR3	c.348C>T	NM_000142.5	NP_000133.1:p.(Arg116=)	NC_000004.11:g.1801219C>T	(Likely) benign	3 labs	118fd7f694
2:179449186 TTN G>A	2	179449186	179449186	G	A	TTN	c.65092C>T	NM_001267550.2	NP_001254479.2:p.(Arg21698Cys)	NC_000002.11:g.179449186G>A	(Likely) benign	6 labs	11953e97f7
5:1253918 TERT C>T	5	1253918	1253918	C	T	TERT	c.3324G>A	NM_198253.3	NP_937983.2:p.(Pro1108=)	NC_000005.9:g.1253918C>T	(Likely) benign	3 labs	11b8c55bff
15:63930902 HERC1 T>G	15	63930902	63930902	T	G	HERC1	c.11967+8A>C	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63930902T>G	(Likely) benign	2 labs	11cafb6a67
2:179605725 TTN T>C	2	179605725	179605725	T	C	TTN	c.12235A>G	NM_001267550.2	NP_001254479.2:p.(Ile4079Val)	NC_000002.11:g.179605725T>C	(Likely) benign	5 labs	12193261eb
3:129207191 IFT122 A>C	3	129207191	129207191	A	C	IFT122	c.1943A>C	NM_052989.3	NP_443715.1:p.(Glu648Ala)	NC_000003.11:g.129207191A>C	(Likely) benign	3 labs	1233dc44c9
20:62324619 RTEL1 C>T	20	62324619	62324619	C	T	RTEL1	c.2975C>T	NM_001283009.2	NP_001269938.1:p.(Pro992Leu)	NC_000020.10:g.62324619C>T	(Likely) benign	2 labs	128f292ec6
7:128486091 FLNC C>T	7	128486091	128486091	C	T	FLNC	c.3838C>T	NM_001458.5	NP_001449.3:p.(Leu1280=)	NC_000007.13:g.128486091C>T	(Likely) benign	3 labs	129d2afeb0
15:99434816 IGF1R C>A	15	99434816	99434816	C	A	IGF1R	c.903C>A	NM_000875.5	NP_000866.1:p.(Gly301=)	NC_000015.9:g.99434816C>A	(Likely) benign	2 labs	12aa8c0f65
6:51524409 PKHD1 G>T	6	51524409	51524409	G	T	PKHD1	c.10515C>A	NM_138694.4	NP_619639.3:p.(Ser3505Arg)	NC_000006.11:g.51524409G>T	(Likely) benign	2 labs	1309e1d06b
3:52437172 BAP1 C>T	3	52437172	52437172	C	T	BAP1	c.1872G>A	NM_004656.4	NP_004647.1:p.(Gly624=)	NC_000003.11:g.52437172C>T	(Likely) benign	3 labs	13464f11ef
X:31196087 DMD A>T	X	31196087	31196087	A	T	DMD	c.10224T>A	NM_004006.3	NP_003997.2:p.(Thr3408=)	NC_000023.10:g.31196087A>T	(Likely) benign	2 labs	135d2856c7
17:41063155 G6PC1 CA>C	17	41063155	41063157	CA	C	G6PC1	c.788del	NM_000151.4	NP_000142.2:p.(Lys263ArgfsTer38)	NC_000017.10:g.41063157del	(Likely) pathogenic	2 labs	136517a31b
7:42063171 GLI3 C>G	7	42063171	42063171	C	G	GLI3	c.1393G>C	NM_000168.6	NP_000159.3:p.(Gly465Arg)	NC_000007.13:g.42063171C>G	(Likely) benign	3 labs	136881651f
14:64596823 SYNE2 C>A	14	64596823	64596823	C	A	SYNE2	c.14197C>A	NM_182914.3	NP_878918.2:p.(Pro4733Thr)	NC_000014.8:g.64596823C>A	(Likely) benign	2 labs	13b6be077a
2:179518052 TTN A>G	2	179518052	179518052	A	G	TTN	c.38708-4T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518052A>G	(Likely) benign	5 labs	13c801deb0
2:179527095 TTN G>A	2	179527095	179527095	G	A	TTN	c.37009C>T	NM_001267550.2	NP_001254479.2:p.(Pro12337Ser)	NC_000002.11:g.179527095G>A	(Likely) benign	3 labs	13cc5054ab
5:176638506 NSD1 G>C	5	176638506	176638506	G	C	NSD1	c.3106G>C	NM_022455.5	NP_071900.2:p.(Ala1036Pro)	NC_000005.9:g.176638506G>C	(Likely) benign	5 labs	13daabe6b5
16:2120487 TSC2 G>A	16	2120487	2120487	G	A	TSC2	c.1747G>A	NM_000548.5	NP_000539.2:p.(Ala583Thr)	NC_000016.9:g.2120487G>A	(Likely) benign	3 labs	13f2fafa75
6:51613051 PKHD1 A>G	6	51613051	51613051	A	G	PKHD1	c.9363T>C	NM_138694.4	NP_619639.3:p.(Asn3121=)	NC_000006.11:g.51613051A>G	(Likely) benign	2 labs	13f64ad913
3:123071310 ADCY5 C>T	3	123071310	123071310	C	T	ADCY5	c.1253G>A	NM_183357.3	NP_899200.1:p.(Arg418Gln)	NC_000003.11:g.123071310C>T	(Likely) pathogenic	3 labs	13fb743a0c
2:179634961 TTN C>A	2	179634961	179634961	C	A	TTN	c.8467G>T	NM_001267550.2	NP_001254479.2:p.(Val2823Phe)	NC_000002.11:g.179634961C>A	(Likely) benign	6 labs	1403768200
19:13318811 CACNA1A C>T	19	13318811	13318811	C	T	CACNA1A	c.6837G>A	NM_001127222.2	NP_001120694.1:p.(Pro2279=)	NC_000019.9:g.13318811C>T	(Likely) benign	2 labs	141b0f0ddd
2:48033890 MSH6 CTT>C	2	48033890	48033908	CTT	C	MSH6	c.4002-11_4002-10del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033907_48033908del	(Likely) benign	4 labs	142149efc7
1:215844316 USH2A G>A	1	215844316	215844316	G	A	USH2A	c.14131C>T	NM_206933.2	NP_996816.2:p.(Gln4711Ter)	NC_000001.10:g.215844316G>A	(Likely) pathogenic	3 labs	142a5e8201
14:75513463 MLH3 A>G	14	75513463	75513463	A	G	MLH3	c.2896T>C	NM_001040108.2	NP_001035197.1:p.(Ser966Pro)	NC_000014.8:g.75513463A>G	(Likely) benign	2 labs	142b880c19
3:178938762 PIK3CA C>T	3	178938762	178938762	C	T	PIK3CA	c.2016-12C>T	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178938762C>T	(Likely) benign	2 labs	14afef668c
6:32006387 CYP21A2 A>T	6	32006387	32006387	A	T	CYP21A2	c.188A>T	NM_000500.9	NP_000491.4:p.(His63Leu)	NC_000006.11:g.32006387A>T	VUS	2 labs	14bcd08c0b
14:92472186 TRIP11 C>T	14	92472186	92472186	C	T	TRIP11	c.2134G>A	NM_004239.4	NP_004230.2:p.(Glu712Lys)	NC_000014.8:g.92472186C>T	(Likely) benign	2 labs	14e9495b22
17:41256266 BRCA1 T>C	17	41256266	41256266	T	C	BRCA1	c.314A>G	NM_007294.4	NP_009225.1:p.(Tyr105Cys)	NC_000017.10:g.41256266T>C	(Likely) benign	6 labs	150833b33d
15:89828441 FANCI C>T	15	89828441	89828441	C	T	FANCI	c.1813C>T	NM_001113378.2	NP_001106849.1:p.(Leu605Phe)	NC_000015.9:g.89828441C>T	(Likely) benign	3 labs	1511f938b4
X:79971651 BRWD3 C>T	X	79971651	79971651	C	T	BRWD3	c.2325+5G>A	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79971651C>T	(Likely) benign	3 labs	152ecc413c
17:63532594 AXIN2 A>G	17	63532594	63532594	A	G	AXIN2	c.1985T>C	NM_004655.4	NP_004646.3:p.(Leu662Pro)	NC_000017.10:g.63532594A>G	(Likely) benign	5 labs	15519e4465
2:179447787 TTN G>T	2	179447787	179447787	G	T	TTN	c.65743C>A	NM_001267550.2	NP_001254479.2:p.(Gln21915Lys)	NC_000002.11:g.179447787G>T	(Likely) benign	6 labs	1571cf4023
17:57140015 TRIM37 G>A	17	57140015	57140015	G	A	TRIM37	c.861-6C>T	NM_015294.6	NP_056109.1:p.?	NC_000017.10:g.57140015G>A	(Likely) benign	2 labs	1584b0e03f
2:39262348 SOS1 C>G	2	39262348	39262348	C	G	SOS1	c.1074+5G>C	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39262348C>G	(Likely) benign	4 labs	159744f4a1
21:47552103 COL6A2 G>T	21	47552103	47552103	G	T	COL6A2	c.2697G>T	NM_001849.4	NP_001840.3:p.(Thr899=)	NC_000021.8:g.47552103G>T	(Likely) benign	3 labs	15997bdf71
3:189607152 TP63 C>A	3	189607152	189607152	C	A	TP63	c.1531C>A	NM_003722.5	NP_003713.3:p.(Pro511Thr)	NC_000003.11:g.189607152C>A	(Likely) benign	4 labs	15eb493d40
4:1807908 FGFR3 C>T	4	1807908	1807908	C	T	FGFR3	c.1959+8C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807908C>T	(Likely) benign	3 labs	160b71671c
1:161332091 SDHC CTT>C	1	161332091	161332105	CTT	C	SDHC	c.406-15_406-14del	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332104_161332105del	(Likely) benign	2 labs	163b85d475
1:45798781 MUTYH G>A	1	45798781	45798781	G	A	MUTYH	c.450C>T	NM_001128425.2	NP_001121897.1:p.(Thr150=)	NC_000001.10:g.45798781G>A	(Likely) benign	4 labs	16690fe50a
2:179643632 TTN T>C	2	179643632	179643632	T	C	TTN	c.4177A>G	NM_001267550.2	NP_001254479.2:p.(Ile1393Val)	NC_000002.11:g.179643632T>C	(Likely) benign	5 labs	1697039fee
17:78024094 CCDC40 C>T	17	78024094	78024094	C	T	CCDC40	c.1159+12C>T	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78024094C>T	(Likely) benign	2 labs	169a7736ac
11:108175387 ATM G>C	11	108175387	108175387	G	C	ATM	c.5497-15G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108175387G>C	(Likely) benign	5 labs	16be53829e
11:44193143 EXT2 G>T	11	44193143	44193143	G	T	EXT2	c.1174-18G>T	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44193143G>T	(Likely) benign	2 labs	17251f4cdf
22:41574510 EP300 TCAG>T	22	41574510	41574515	TCAG	T	EP300	c.6798_6800del	NM_001429.4	NP_001420.2:p.(Gln2268del)	NC_000022.10:g.41574513_41574515del	(Likely) benign	2 labs	173376c79a
16:23646857 PALB2 A>G	16	23646857	23646857	A	G	PALB2	c.1010T>C	NM_024675.4	NP_078951.2:p.(Leu337Ser)	NC_000016.9:g.23646857A>G	(Likely) benign	6 labs	1773672c73
8:145001652 PLEC G>A	8	145001652	145001652	G	A	PLEC	c.3682C>T	NM_201384.3	NP_958786.1:p.(Arg1228Trp)	NC_000008.10:g.145001652G>A	(Likely) benign	2 labs	178b5420f0
19:3110340 GNA11 G>A	19	3110340	3110340	G	A	GNA11	c.321+9G>A	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3110340G>A	(Likely) benign	2 labs	17c33adf19
15:34635241 NOP10 C>G	15	34635241	34635241	C	G	NOP10	c.34G>C	NM_018648.4	NP_061118.1:p.(Asp12His)	NC_000015.9:g.34635241C>G	(Likely) benign	2 labs	17c8b0f404
16:53692694 RPGRIP1L A>G	16	53692694	53692694	A	G	RPGRIP1L	c.1340T>C	NM_015272.5	NP_056087.2:p.(Leu447Ser)	NC_000016.9:g.53692694A>G	(Likely) benign	4 labs	1887b2e015
6:32007887 CYP21A2 G>T	6	32007887	32007887	G	T	CYP21A2	c.844G>T	NM_000500.9	NP_000491.4:p.(Val282Leu)	NC_000006.11:g.32007887G>T	(Likely) pathogenic	3 labs	18d12cb1e3
5:112173250 APC G>A	5	112173250	112173250	G	A	APC	c.1959G>A	NM_000038.6	NP_000029.2:p.(Arg653=)	NC_000005.9:g.112173250G>A	(Likely) benign	5 labs	1903ed5956
6:51917987 PKHD1 G>C	6	51917987	51917987	G	C	PKHD1	c.2027C>G	NM_138694.4	NP_619639.3:p.(Pro676Arg)	NC_000006.11:g.51917987G>C	(Likely) benign	2 labs	190414d9f1
17:59937286 BRIP1 A>C	17	59937286	59937286	A	C	BRIP1	c.94-18T>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59937286A>C	(Likely) benign	4 labs	19431e2b69
15:101718950 CHSY1 T>C	15	101718950	101718950	T	C	CHSY1	c.1052A>G	NM_014918.5	NP_055733.2:p.(Lys351Arg)	NC_000015.9:g.101718950T>C	(Likely) benign	2 labs	1966a866e3
X:32466654 DMD G>A	X	32466654	32466654	G	A	DMD	c.3705C>T	NM_004006.3	NP_003997.2:p.(Ala1235=)	NC_000023.10:g.32466654G>A	(Likely) benign	4 labs	196e9007e5
2:48023042 MSH6 C>G	2	48023042	48023042	C	G	MSH6	c.467C>G	NM_000179.3	NP_000170.1:p.(Ser156Ter)	NC_000002.11:g.48023042C>G	(Likely) pathogenic	6 labs	1992de487c
19:11096851 SMARCA4 A>G	19	11096851	11096851	A	G	SMARCA4	c.356-14A>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11096851A>G	(Likely) benign	2 labs	19dc9501d8
19:15299048 NOTCH3 G>A	19	15299048	15299048	G	A	NOTCH3	c.1490C>T	NM_000435.3	NP_000426.2:p.(Ser497Leu)	NC_000019.9:g.15299048G>A	(Likely) benign	2 labs	19e1075aeb
18:19762986 GATA6 A>G	18	19762986	19762986	A	G	GATA6	c.1602A>G	NM_005257.6	NP_005248.2:p.(Thr534=)	NC_000018.9:g.19762986A>G	(Likely) benign	3 labs	19ebf41754
16:23641461 PALB2 C>G	16	23641461	23641461	C	G	PALB2	c.2014G>C	NM_024675.4	NP_078951.2:p.(Glu672Gln)	NC_000016.9:g.23641461C>G	(Likely) benign	5 labs	1a155ce546
19:13419235 CACNA1A G>C	19	13419235	13419235	G	C	CACNA1A	c.1776C>G	NM_001127222.2	NP_001120694.1:p.(Val592=)	NC_000019.9:g.13419235G>C	(Likely) benign	4 labs	1a3ed0b4c1
3:154832881 MME G>A	3	154832881	154832881	G	A	MME	c.295G>A	NM_007289.4	NP_009220.2:p.(Glu99Lys)	NC_000003.11:g.154832881G>A	VUS	2 labs	1a51ab453a
9:94486491 ROR2 G>A	9	94486491	94486491	G	A	ROR2	c.2285C>T	NM_004560.4	NP_004551.2:p.(Ser762Leu)	NC_000009.11:g.94486491G>A	(Likely) benign	2 labs	1a71be953a
9:130581049 ENG T>C	9	130581049	130581049	T	C	ENG	c.1374A>G	NM_001114753.3	NP_001108225.1:p.(Pro458=)	NC_000009.11:g.130581049T>C	(Likely) benign	2 labs	1ae95be1fb
14:23884880 MYH7 C>T	14	23884880	23884880	C	T	MYH7	c.5115G>A	NM_000257.4	NP_000248.2:p.(Glu1705=)	NC_000014.8:g.23884880C>T	(Likely) benign	2 labs	1af04be963
3:142188337 ATR A>C	3	142188337	142188337	A	C	ATR	c.6394T>G	NM_001184.4	NP_001175.2:p.(Tyr2132Asp)	NC_000003.11:g.142188337A>C	(Likely) benign	4 labs	1b0385210e
9:135946948 CEL T>G	9	135946948	135946948	T	G	CEL	c.2059T>G	NM_001807.6	NP_001798.3:p.(Ser687Ala)	NC_000009.11:g.135946948T>G	(Likely) benign	2 labs	1ba3934f4e
5:112176556 APC G>A	5	112176556	112176556	G	A	APC	c.5265G>A	NM_000038.6	NP_000029.2:p.(Ala1755=)	NC_000005.9:g.112176556G>A	(Likely) benign	5 labs	1bbcf0c7e1
17:40376780 STAT5B C>T	17	40376780	40376780	C	T	STAT5B	c.375+17G>A	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40376780C>T	(Likely) benign	2 labs	1bbed96c1f
16:1841559 IGFALS G>A	16	1841559	1841559	G	A	IGFALS	c.860C>T	NM_004970.3	NP_004961.1:p.(Pro287Leu)	NC_000016.9:g.1841559G>A	(Likely) benign	2 labs	1bc1a023e2
12:133250173 POLE C>T	12	133250173	133250173	C	T	POLE	c.1347G>A	NM_006231.4	NP_006222.2:p.(Thr449=)	NC_000012.11:g.133250173C>T	(Likely) benign	3 labs	1bea0207c5
5:1280263 TERT G>A	5	1280263	1280263	G	A	TERT	c.1950+10C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1280263G>A	(Likely) benign	3 labs	1c3b566901
5:149435608 CSF1R G>C	5	149435608	149435608	G	C	CSF1R	c.2535C>G	NM_001288705.3	NP_001275634.1:p.(Leu845=)	NC_000005.9:g.149435608G>C	(Likely) benign	3 labs	1c4708be93
15:23890257 MAGEL2 G>A	15	23890257	23890257	G	A	MAGEL2	c.2633C>T	NM_019066.5	NP_061939.3:p.(Pro878Leu)	NC_000015.9:g.23890257G>A	(Likely) benign	4 labs	1c4d39ce6d
1:235577776 TBCE C>T	1	235577776	235577776	C	T	TBCE	c.214C>T	NM_003193.5	NP_003184.1:p.(Pro72Ser)	NC_000001.10:g.235577776C>T	(Likely) benign	4 labs	1c58e09e27
2:71780265 DYSF T>C	2	71780265	71780265	T	C	DYSF	c.1931T>C	NM_001130987.2	NP_001124459.1:p.(Met644Thr)	NC_000002.11:g.71780265T>C	(Likely) benign	2 labs	1c64f59014
15:42676690 CAPN3 G>A	15	42676690	42676690	G	A	CAPN3	c.319G>A	NM_000070.3	NP_000061.1:p.(Glu107Lys)	NC_000015.9:g.42676690G>A	(Likely) benign	2 labs	1c7c9047a3
17:66511627 PRKAR1A G>A	17	66511627	66511627	G	A	PRKAR1A	c.87G>A	NM_002734.5	NP_002725.1:p.(Ala29=)	NC_000017.10:g.66511627G>A	(Likely) benign	2 labs	1c8eb28c19
8:145016657 PLEC G>C	8	145016657	145016657	G	C	PLEC	c.194-3797C>G	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145016657G>C	(Likely) benign	2 labs	1ca24f093d
7:128480229 FLNC C>A	7	128480229	128480229	C	A	FLNC	c.1549+15C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480229C>A	(Likely) benign	4 labs	1cadcf7c13
9:36219881 GNE G>A	9	36219881	36219881	G	A	GNE	c.1770C>T	NM_005476.7	NP_005467.1:p.(Tyr590=)	NC_000009.11:g.36219881G>A	(Likely) benign	2 labs	1cf1bc72ab
5:126161748 LMNB1 G>A	5	126161748	126161748	G	A	LMNB1	c.1560G>A	NM_005573.4	NP_005564.1:p.(Ser520=)	NC_000005.9:g.126161748G>A	(Likely) benign	2 labs	1d156d19d9
2:179428119 TTN C>T	2	179428119	179428119	C	T	TTN	c.82740G>A	NM_001267550.2	NP_001254479.2:p.(Thr27580=)	NC_000002.11:g.179428119C>T	(Likely) benign	5 labs	1d4c842cc3
18:48575160 SMAD4 G>A	18	48575160	48575160	G	A	SMAD4	c.354G>A	NM_005359.6	NP_005350.1:p.(Ala118=)	NC_000018.9:g.48575160G>A	(Likely) benign	5 labs	1d75b42c28
2:73650009 ALMS1 C>A	2	73650009	73650009	C	A	ALMS1	c.671C>A	NM_001378454.1	NP_001365383.1:p.(Pro224His)	NC_000002.11:g.73650009C>A	(Likely) benign	3 labs	1dae3f8daa
14:75513534 MLH3 G>A	14	75513534	75513534	G	A	MLH3	c.2825C>T	NM_001040108.2	NP_001035197.1:p.(Thr942Ile)	NC_000014.8:g.75513534G>A	(Likely) benign	3 labs	1db3d3a1b9
1:45295296 PTCH2 C>T	1	45295296	45295296	C	T	PTCH2	c.1073G>A	NM_003738.5	NP_003729.3:p.(Arg358His)	NC_000001.10:g.45295296C>T	(Likely) benign	2 labs	1dc4d9fcc1
10:88451649 LDB3 A>G	10	88451649	88451649	A	G	LDB3	c.690-4A>G	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88451649A>G	(Likely) benign	5 labs	1dff1fe4d2
9:130444666 STXBP1 TTCTC>T	9	130444666	130444677	TTCTC	T	STXBP1	c.1548-11_1548-8del	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130444674_130444677del	(Likely) benign	2 labs	1e16f3ff36
2:179605991 TTN G>A	2	179605991	179605991	G	A	TTN	c.11969C>T	NM_001267550.2	NP_001254479.2:p.(Pro3990Leu)	NC_000002.11:g.179605991G>A	(Likely) benign	6 labs	1e33449757
2:220285002 DES T>C	2	220285002	220285002	T	C	DES	c.669T>C	NM_001927.4	NP_001918.3:p.(Ile223=)	NC_000002.11:g.220285002T>C	(Likely) benign	4 labs	1e498adbdd
15:89876827 POLGARF TTGCTGC>T	15	89876827	89876860	TTGCTGC	T	POLGARF	c.208_213del	NM_001430120.1	NP_001417049.1:p.(Ala70_Ala71del)	NC_000015.9:g.89876855_89876860del	(Likely) benign	3 labs	1e59690a4d
9:135941932 CEL G>A	9	135941932	135941932	G	A	CEL	c.554G>A	NM_001807.6	NP_001798.3:p.(Arg185Gln)	NC_000009.11:g.135941932G>A	(Likely) benign	2 labs	1e5f4cb7ce
2:71753416 DYSF G>C	2	71753416	71753416	G	C	DYSF	c.1216G>C	NM_001130987.2	NP_001124459.1:p.(Val406Leu)	NC_000002.11:g.71753416G>C	(Likely) benign	2 labs	1e76a450e0
7:5568288 ACTB C>A	7	5568288	5568288	C	A	ACTB	c.426G>T	NM_001101.5	NP_001092.1:p.(Leu142=)	NC_000007.13:g.5568288C>A	(Likely) benign	3 labs	1ea215c05e
2:179544685 TTN C>CTCT	2	179544685	179544700	C	CTCT	TTN	c.33513_33515dup	NM_001267550.2	NP_001254479.2:p.(Glu11172dup)	NC_000002.11:g.179544698_179544700dup	(Likely) benign	5 labs	1ed2e7aafb
2:220417356 OBSL1 G>T	2	220417356	220417356	G	T	OBSL1	c.5210C>A	NM_015311.3	NP_056126.1:p.(Thr1737Lys)	NC_000002.11:g.220417356G>T	(Likely) benign	2 labs	1efc68ab01
6:51497503 PKHD1 C>A	6	51497503	51497503	C	A	PKHD1	c.11525G>T	NM_138694.4	NP_619639.3:p.(Arg3842Leu)	NC_000006.11:g.51497503C>A	(Likely) benign	2 labs	1f25699a1c
5:176722277 NSD1 C>T	5	176722277	176722277	C	T	NSD1	c.7908C>T	NM_022455.5	NP_071900.2:p.(Leu2636=)	NC_000005.9:g.176722277C>T	(Likely) benign	3 labs	1f26efe480
9:133759717 ABL1 C>T	9	133759717	133759717	C	T	ABL1	c.2040C>T	NM_005157.6	NP_005148.2:p.(Gly680=)	NC_000009.11:g.133759717C>T	(Likely) benign	2 labs	1f391adb90
15:43018518 CDAN1 C>T	15	43018518	43018518	C	T	CDAN1	c.3194G>A	NM_138477.4	NP_612486.2:p.(Arg1065Gln)	NC_000015.9:g.43018518C>T	(Likely) benign	2 labs	1f3b73a8e3
11:108123551 ATM C>T	11	108123551	108123551	C	T	ATM	c.1810C>T	NM_000051.4	NP_000042.3:p.(Pro604Ser)	NC_000011.9:g.108123551C>T	(Likely) benign	6 labs	1f4c254314
2:179392015 TTN T>C	2	179392015	179392015	T	C	TTN	c.107700A>G	NM_001267550.2	NP_001254479.2:p.(Glu35900=)	NC_000002.11:g.179392015T>C	(Likely) benign	5 labs	1f61e8b934
13:110853780 COL4A1 G>C	13	110853780	110853780	G	C	COL4A1	c.1084+5C>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110853780G>C	(Likely) benign	3 labs	1f810bf977
2:166903494 SCN1A CAA>C	2	166903494	166903499	CAA	C	SCN1A	c.1171-10_1171-9del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166903498_166903499del	(Likely) benign	3 labs	1f87df604e
2:179511767 TTN GTATA>G	2	179511767	179511789	GTATA	G	TTN	c.40222+20_40222+23del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511786_179511789del	(Likely) benign	4 labs	1f91316e72
14:75485519 MLH3 G>C	14	75485519	75485519	G	C	MLH3	c.4242+13C>G	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75485519G>C	(Likely) benign	2 labs	1fb4bbc000
8:11405576 BLK G>A	8	11405576	11405576	G	A	BLK	c.211G>A	NM_001715.3	NP_001706.2:p.(Ala71Thr)	NC_000008.10:g.11405576G>A	(Likely) benign	2 labs	1fbf4826cd
1:12023632 PLOD1 G>A	1	12023632	12023632	G	A	PLOD1	c.1141G>A	NM_000302.4	NP_000293.2:p.(Val381Met)	NC_000001.10:g.12023632G>A	(Likely) benign	2 labs	1fee1a3da0
5:126161690 LMNB1 C>T	5	126161690	126161690	C	T	LMNB1	c.1502C>T	NM_005573.4	NP_005564.1:p.(Ala501Val)	NC_000005.9:g.126161690C>T	(Likely) benign	2 labs	202594b826
2:179396162 TTN C>G	2	179396162	179396162	C	G	TTN	c.105180G>C	NM_001267550.2	NP_001254479.2:p.(Glu35060Asp)	NC_000002.11:g.179396162C>G	(Likely) benign	5 labs	2028ad1346
3:8787268 CAV3 G>A	3	8787268	8787268	G	A	CAV3	c.171G>A	NM_033337.3	NP_203123.1:p.(Val57=)	NC_000003.11:g.8787268G>A	(Likely) benign	4 labs	203f922775
16:30723222 SRCAP G>A	16	30723222	30723222	G	A	SRCAP	c.1559G>A	NM_006662.3	NP_006653.2:p.(Ser520Asn)	NC_000016.9:g.30723222G>A	(Likely) benign	3 labs	2063ad1173
6:43572357 POLH G>A	6	43572357	43572357	G	A	POLH	c.890G>A	NM_006502.3	NP_006493.1:p.(Trp297Ter)	NC_000006.11:g.43572357G>A	(Likely) pathogenic	2 labs	2076631109
16:2152654 PKD1 C>T	16	2152654	2152654	C	T	PKD1	c.8949-20G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152654C>T	(Likely) benign	2 labs	20a23f426a
3:37050325 MLH1 C>T	3	37050325	37050325	C	T	MLH1	c.474C>T	NM_000249.4	NP_000240.1:p.(Asn158=)	NC_000003.11:g.37050325C>T	(Likely) benign	5 labs	20a2dbb60a
17:59853917 BRIP1 C>T	17	59853917	59853917	C	T	BRIP1	c.1942G>A	NM_032043.3	NP_114432.2:p.(Val648Ile)	NC_000017.10:g.59853917C>T	VUS	2 labs	20db7b9fb1
16:68847350 CDH1 C>T	16	68847350	68847350	C	T	CDH1	c.1272C>T	NM_004360.5	NP_004351.1:p.(Val424=)	NC_000016.9:g.68847350C>T	(Likely) benign	6 labs	20de435a07
4:166924727 TLL1 A>G	4	166924727	166924727	A	G	TLL1	c.811+6A>G	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166924727A>G	(Likely) benign	4 labs	2132586467
6:51889358 PKHD1 T>C	6	51889358	51889358	T	C	PKHD1	c.5236+14A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51889358T>C	(Likely) benign	2 labs	21349323f6
1:40555167 PPT1 G>A	1	40555167	40555167	G	A	PPT1	c.451C>T	NM_000310.4	NP_000301.1:p.(Arg151Ter)	NC_000001.10:g.40555167G>A	(Likely) pathogenic	6 labs	2142295c4a
X:139586919 SOX3 G>T	X	139586919	139586919	G	T	SOX3	c.307C>A	NM_005634.3	NP_005625.2:p.(Pro103Thr)	NC_000023.10:g.139586919G>T	(Likely) benign	3 labs	218869b7d0
9:35792495 NPR2 G>A	9	35792495	35792495	G	A	NPR2	c.90G>A	NM_003995.4	NP_003986.2:p.(Val30=)	NC_000009.11:g.35792495G>A	(Likely) benign	2 labs	2194db998d
19:13411451 CACNA1A T>G	19	13411451	13411451	T	G	CACNA1A	c.2192A>C	NM_001127222.2	NP_001120694.1:p.(Glu731Ala)	NC_000019.9:g.13411451T>G	(Likely) benign	3 labs	21b113fbe8
6:119136518 MCM9 C>T	6	119136518	119136518	C	T	MCM9	c.2901G>A	NM_017696.3	NP_060166.2:p.(Pro967=)	NC_000006.11:g.119136518C>T	(Likely) benign	2 labs	21f33f18ea
20:62319284 RTEL1 G>A	20	62319284	62319284	G	A	RTEL1	c.1482-6G>A	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62319284G>A	(Likely) benign	2 labs	2227598f53
13:32972626 BRCA2 A>T	13	32972626	32972626	A	T	BRCA2	c.9976A>T	NM_000059.4	NP_000050.3:p.(Lys3326Ter)	NC_000013.10:g.32972626A>T	(Likely) benign	7 labs	2246506086
11:2610034 KCNQ1 C>G	11	2610034	2610034	C	G	KCNQ1	c.1343C>G	NM_000218.3	NP_000209.2:p.(Pro448Arg)	NC_000011.9:g.2610034C>G	(Likely) benign	4 labs	22d42f4aa3
16:2111895 TSC2 G>A	16	2111895	2111895	G	A	TSC2	c.1143G>A	NM_000548.5	NP_000539.2:p.(Arg381=)	NC_000016.9:g.2111895G>A	(Likely) benign	2 labs	22d978103a
10:27381397 ANKRD26 C>T	10	27381397	27381397	C	T	ANKRD26	c.576G>A	NM_014915.3	NP_055730.2:p.(Gln192=)	NC_000010.10:g.27381397C>T	(Likely) benign	2 labs	22fb6ade50
6:51890265 PKHD1 T>C	6	51890265	51890265	T	C	PKHD1	c.4343A>G	NM_138694.4	NP_619639.3:p.(Glu1448Gly)	NC_000006.11:g.51890265T>C	(Likely) benign	2 labs	231aaf0835
13:32911788 BRCA2 C>A	13	32911788	32911788	C	A	BRCA2	c.3296C>A	NM_000059.4	NP_000050.3:p.(Ser1099Ter)	NC_000013.10:g.32911788C>A	(Likely) pathogenic	2 labs	2322d0f173
20:44520237 CTSA C>CCTG	20	44520237	44520263	C	CCTG	CTSA	c.54_56dup	NM_000308.4	NP_000299.3:p.(Leu19dup)	NC_000020.10:g.44520261_44520263dup	(Likely) benign	3 labs	23563b9785
7:92731586 SAMD9 A>G	7	92731586	92731586	A	G	SAMD9	c.3825T>C	NM_017654.4	NP_060124.2:p.(Phe1275=)	NC_000007.13:g.92731586A>G	(Likely) benign	2 labs	2360a95a69
14:23886409 MYH7 G>C	14	23886409	23886409	G	C	MYH7	c.4472C>G	NM_000257.4	NP_000248.2:p.(Ser1491Cys)	NC_000014.8:g.23886409G>C	(Likely) benign	5 labs	236942a397
5:1294879 TERT G>A	5	1294879	1294879	G	A	TERT	c.219+7C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1294879G>A	(Likely) benign	4 labs	239e07cd28
17:41197801 BRCA1 T>TC	17	41197801	41197802	T	TC	BRCA1	c.5485dup	NM_007294.4	NP_009225.1:p.(Glu1829GlyfsTer51)	NC_000017.10:g.41197802dup	(Likely) pathogenic	2 labs	23a5f6a154
6:76595753 MYO6 T>G	6	76595753	76595753	T	G	MYO6	c.2449T>G	NM_004999.4	NP_004990.3:p.(Cys817Gly)	NC_000006.11:g.76595753T>G	VUS	2 labs	23a74f4a9d
2:190924861 MSTN A>G	2	190924861	190924861	A	G	MSTN	c.674T>C	NM_005259.3	NP_005250.1:p.(Ile225Thr)	NC_000002.11:g.190924861A>G	(Likely) benign	2 labs	23af93856b
18:2926779 LPIN2 A>G	18	2926779	2926779	A	G	LPIN2	c.1735T>C	NM_001375808.2	NP_001362737.1:p.(Ser579Pro)	NC_000018.9:g.2926779A>G	(Likely) benign	3 labs	23b4c0068c
13:110833708 COL4A1 C>T	13	110833708	110833708	C	T	COL4A1	c.2124G>A	NM_001845.6	NP_001836.3:p.(Gly708=)	NC_000013.10:g.110833708C>T	(Likely) benign	2 labs	23d0f25baa
X:153132233 L1CAM C>T	X	153132233	153132233	C	T	L1CAM	c.2302G>A	NM_001278116.2	NP_001265045.1:p.(Val768Ile)	NC_000023.10:g.153132233C>T	(Likely) benign	3 labs	23d3618963
5:147498543 SPINK5 C>T	5	147498543	147498543	C	T	SPINK5	c.2241-6C>T	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147498543C>T	(Likely) benign	2 labs	24483766b3
11:31823139 PAX6 C>T	11	31823139	31823139	C	T	PAX6	c.369G>A	NM_001368894.2	NP_001355823.1:p.(Glu123=)	NC_000011.9:g.31823139C>T	(Likely) benign	3 labs	246fb1f6f0
12:88454728 CEP290 A>G	12	88454728	88454728	A	G	CEP290	c.6401T>C	NM_025114.4	NP_079390.3:p.(Ile2134Thr)	NC_000012.11:g.88454728A>G	(Likely) benign	3 labs	247402c458
17:59857686 BRIP1 G>A	17	59857686	59857686	G	A	BRIP1	c.1871C>T	NM_032043.3	NP_114432.2:p.(Ser624Leu)	NC_000017.10:g.59857686G>A	VUS	5 labs	2477e91ff4
9:137593099 COL5A1 G>A	9	137593099	137593099	G	A	COL5A1	c.574G>A	NM_000093.5	NP_000084.3:p.(Asp192Asn)	NC_000009.11:g.137593099G>A	(Likely) benign	4 labs	247e2eae3e
11:108128246 ATM T>A	11	108128246	108128246	T	A	ATM	c.2289T>A	NM_000051.4	NP_000042.3:p.(Phe763Leu)	NC_000011.9:g.108128246T>A	(Likely) benign	5 labs	2495878edb
10:73563127 CDH23 C>T	10	73563127	73563127	C	T	CDH23	c.7822C>T	NM_022124.6	NP_071407.4:p.(Arg2608Cys)	NC_000010.10:g.73563127C>T	VUS	2 labs	24a936eeeb
2:179583967 TTN G>A	2	179583967	179583967	G	A	TTN	c.24150C>T	NM_001267550.2	NP_001254479.2:p.(Ser8050=)	NC_000002.11:g.179583967G>A	(Likely) benign	5 labs	24b65b3901
13:111077229 COL4A2 G>T	13	111077229	111077229	G	T	COL4A2	c.315+14G>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077229G>T	(Likely) benign	2 labs	24c879fcd3
14:75513969 MLH3 C>T	14	75513969	75513969	C	T	MLH3	c.2390G>A	NM_001040108.2	NP_001035197.1:p.(Arg797His)	NC_000014.8:g.75513969C>T	(Likely) benign	2 labs	24d4593aeb
16:2160251 PKD1 G>A	16	2160251	2160251	G	A	PKD1	c.4917C>T	NM_001009944.3	NP_001009944.3:p.(Gly1639=)	NC_000016.9:g.2160251G>A	(Likely) benign	3 labs	24ede59f97
12:133208882 POLE C>T	12	133208882	133208882	C	T	POLE	c.6330+19G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133208882C>T	(Likely) benign	2 labs	27127a94d2
2:179395874 TTN C>T	2	179395874	179395874	C	T	TTN	c.105468G>A	NM_001267550.2	NP_001254479.2:p.(Pro35156=)	NC_000002.11:g.179395874C>T	(Likely) benign	5 labs	24f1a74aa1
4:5642327 EVC2 T>C	4	5642327	5642327	T	C	EVC2	c.1384A>G	NM_147127.5	NP_667338.3:p.(Thr462Ala)	NC_000004.11:g.5642327T>C	(Likely) benign	2 labs	250ae6bc14
2:233075081 DIS3L2 C>T	2	233075081	233075081	C	T	DIS3L2	c.1170C>T	NM_152383.5	NP_689596.4:p.(Leu390=)	NC_000002.11:g.233075081C>T	(Likely) benign	2 labs	251bc2e189
1:152280559 FLG T>C	1	152280559	152280559	T	C	FLG	c.6803A>G	NM_002016.2	NP_002007.1:p.(His2268Arg)	NC_000001.10:g.152280559T>C	(Likely) benign	2 labs	2565edd50a
11:111959695 SDHD G>T	11	111959695	111959695	G	T	SDHD	c.274G>T	NM_003002.4	NP_002993.1:p.(Asp92Tyr)	NC_000011.9:g.111959695G>T	(Likely) pathogenic	4 labs	2573ade7d2
17:48265996 COL1A1 A>G	17	48265996	48265996	A	G	COL1A1	c.3102T>C	NM_000088.4	NP_000079.2:p.(Gly1034=)	NC_000017.10:g.48265996A>G	(Likely) benign	4 labs	25892a8e5a
19:13482554 CACNA1A C>T	19	13482554	13482554	C	T	CACNA1A	c.579G>A	NM_001127222.2	NP_001120694.1:p.(Thr193=)	NC_000019.9:g.13482554C>T	(Likely) benign	4 labs	25ab77bd81
2:179398747 TTN T>C	2	179398747	179398747	T	C	TTN	c.102595A>G	NM_001267550.2	NP_001254479.2:p.(Ile34199Val)	NC_000002.11:g.179398747T>C	(Likely) benign	5 labs	25b973aec7
10:17152933 CUBN G>A	10	17152933	17152933	G	A	CUBN	c.1000C>T	NM_001081.4	NP_001072.2:p.(Gln334Ter)	NC_000010.10:g.17152933G>A	(Likely) pathogenic	2 labs	25bac381fe
18:34238132 FHOD3 C>A	18	34238132	34238132	C	A	FHOD3	c.1291C>A	NM_025135.5	NP_079411.2:p.(Gln431Lys)	NC_000018.9:g.34238132C>A	VUS	2 labs	25bf6c6073
2:179659118 TTN G>A	2	179659118	179659118	G	A	TTN	c.1398+8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659118G>A	(Likely) benign	4 labs	25d02ce045
14:75515101 MLH3 C>T	14	75515101	75515101	C	T	MLH3	c.1258G>A	NM_001040108.2	NP_001035197.1:p.(Val420Ile)	NC_000014.8:g.75515101C>T	(Likely) benign	2 labs	25d8f69586
16:1506130 CLCN7 C>T	16	1506130	1506130	C	T	CLCN7	c.900G>A	NM_001287.6	NP_001278.1:p.(Ala300=)	NC_000016.9:g.1506130C>T	(Likely) benign	2 labs	25e0383cdb
6:32013037 TNXB C>T	6	32013037	32013037	C	T	TNXB	c.10673G>A	NM_001365276.2	NP_001352205.1:p.(Arg3558His)	NC_000006.11:g.32013037C>T	(Likely) benign	2 labs	25eaa11196
2:71886100 DYSF G>A	2	71886100	71886100	G	A	DYSF	c.4848G>A	NM_001130987.2	NP_001124459.1:p.(Glu1616=)	NC_000002.11:g.71886100G>A	(Likely) benign	2 labs	260dd0d443
2:179486223 TTN C>T	2	179486223	179486223	C	T	TTN	c.45328G>A	NM_001267550.2	NP_001254479.2:p.(Asp15110Asn)	NC_000002.11:g.179486223C>T	(Likely) benign	6 labs	2618fca2ae
5:1264587 TERT G>A	5	1264587	1264587	G	A	TERT	c.2775C>T	NM_198253.3	NP_937983.2:p.(His925=)	NC_000005.9:g.1264587G>A	(Likely) benign	4 labs	2640a970b5
1:22176684 HSPG2 T>A	1	22176684	22176684	T	A	HSPG2	c.7296A>T	NM_005529.7	NP_005520.4:p.(Ala2432=)	NC_000001.10:g.22176684T>A	(Likely) benign	2 labs	264f42c3ee
13:32914180 BRCA2 A>G	13	32914180	32914180	A	G	BRCA2	c.5688A>G	NM_000059.4	NP_000050.3:p.(Ala1896=)	NC_000013.10:g.32914180A>G	(Likely) benign	6 labs	26512a870c
17:56772612 RAD51C T>TGTACTATCG	17	56772612	56772621	T	TGTACTATCG	RAD51C	c.404+63_404+71dup	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56772613_56772621dup	(Likely) benign	2 labs	2690fc338c
17:41244130 BRCA1 T>C	17	41244130	41244130	T	C	BRCA1	c.3418A>G	NM_007294.4	NP_009225.1:p.(Ser1140Gly)	NC_000017.10:g.41244130T>C	(Likely) benign	6 labs	2699eef6a0
21:47855812 PCNT A>C	21	47855812	47855812	A	C	PCNT	c.8752-5A>C	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47855812A>C	(Likely) benign	3 labs	26c7d206af
19:1207176 STK11 C>A	19	1207176	1207176	C	A	STK11	c.264C>A	NM_000455.5	NP_000446.1:p.(Ile88=)	NC_000019.9:g.1207176C>A	(Likely) benign	3 labs	26f028e4d6
6:119136530 MCM9 G>A	6	119136530	119136530	G	A	MCM9	c.2889C>T	NM_017696.3	NP_060166.2:p.(Asp963=)	NC_000006.11:g.119136530G>A	(Likely) benign	2 labs	270118191c
7:6042238 PMS2 G>A	7	6042238	6042238	G	A	PMS2	c.383C>T	NM_000535.7	NP_000526.2:p.(Ser128Leu)	NC_000007.13:g.6042238G>A	(Likely) benign	2 labs	271e640e7d
11:118895962 SLC37A4 G>A	11	118895962	118895962	G	A	SLC37A4	c.1062C>T	NM_001164277.2	NP_001157749.1:p.(Asn354=)	NC_000011.9:g.118895962G>A	(Likely) benign	3 labs	273da08cea
13:32900420 BRCA2 G>T	13	32900420	32900420	G	T	BRCA2	c.516+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900420G>T	(Likely) pathogenic	5 labs	274a0b04fa
11:108119770 ATM C>G	11	108119770	108119770	C	G	ATM	c.1176C>G	NM_000051.4	NP_000042.3:p.(Gly392=)	NC_000011.9:g.108119770C>G	(Likely) benign	5 labs	278bdabdef
16:68855966 CDH1 G>A	16	68855966	68855966	G	A	CDH1	c.1774G>A	NM_004360.5	NP_004351.1:p.(Ala592Thr)	NC_000016.9:g.68855966G>A	(Likely) benign	4 labs	27ad6c9165
16:89806477 FANCA C>T	16	89806477	89806477	C	T	FANCA	c.3859G>A	NM_000135.4	NP_000126.2:p.(Val1287Ile)	NC_000016.9:g.89806477C>T	(Likely) benign	3 labs	27c9e357f4
2:48032033 MSH6 C>T	2	48032033	48032033	C	T	MSH6	c.3439-16C>T	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032033C>T	(Likely) benign	7 labs	28401e8143
2:121748048 GLI2 G>A	2	121748048	121748048	G	A	GLI2	c.4507G>A	NM_001374353.1	NP_001361282.1:p.(Asp1503Asn)	NC_000002.11:g.121748048G>A	(Likely) benign	4 labs	284868c22d
4:55133783 PDGFRA C>T	4	55133783	55133783	C	T	PDGFRA	c.996C>T	NM_006206.6	NP_006197.1:p.(Val332=)	NC_000004.11:g.55133783C>T	(Likely) benign	3 labs	286c646134
2:179472693 TTN A>G	2	179472693	179472693	A	G	TTN	c.52821T>C	NM_001267550.2	NP_001254479.2:p.(Asp17607=)	NC_000002.11:g.179472693A>G	(Likely) benign	4 labs	287ea49a2b
17:41267810 BRCA1 G>A	17	41267810	41267810	G	A	BRCA1	c.81-14C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267810G>A	(Likely) benign	7 labs	2884c457a6
3:130715583 ATP2C1 TCAATGC>T	3	130715583	130715591	TCAATGC	T	ATP2C1	c.2189_2194del	NM_001378687.1	NP_001365616.1:p.(Asn730_Ala731del)	NC_000003.11:g.130715586_130715591del	(Likely) pathogenic	2 labs	289a5c3dfa
20:62325833 RTEL1 C>A	20	62325833	62325833	C	A	RTEL1	c.3101C>A	NM_001283009.2	NP_001269938.1:p.(Pro1034His)	NC_000020.10:g.62325833C>A	(Likely) benign	2 labs	29011e9b12
2:179451906 TTN G>A	2	179451906	179451906	G	A	TTN	c.64032C>T	NM_001267550.2	NP_001254479.2:p.(Asn21344=)	NC_000002.11:g.179451906G>A	(Likely) benign	5 labs	2904222964
12:133242016 POLE C>T	12	133242016	133242016	C	T	POLE	c.2340G>A	NM_006231.4	NP_006222.2:p.(Ser780=)	NC_000012.11:g.133242016C>T	(Likely) benign	2 labs	2934b55312
11:44117876 EXT2 G>A	11	44117876	44117876	G	A	EXT2	c.-31+474G>A	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44117876G>A	(Likely) benign	2 labs	293f382d30
11:17408838 KCNJ11 G>C	11	17408838	17408838	G	C	KCNJ11	c.801C>G	NM_000525.4	NP_000516.3:p.(Leu267=)	NC_000011.9:g.17408838G>C	(Likely) benign	4 labs	29639898c5
8:11614513 GATA4 G>T	8	11614513	11614513	G	T	GATA4	c.1070G>T	NM_001308093.3	NP_001295022.1:p.(Ser357Ile)	NC_000008.10:g.11614513G>T	(Likely) benign	2 labs	2970bfa618
11:108129778 ATM C>A	11	108129778	108129778	C	A	ATM	c.2442C>A	NM_000051.4	NP_000042.3:p.(Asp814Glu)	NC_000011.9:g.108129778C>A	(Likely) benign	5 labs	29a9956b5d
5:13886244 DNAH5 CAAAA>C	5	13886244	13886263	CAAAA	C	DNAH5	c.2578-10_2578-7del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886260_13886263del	(Likely) benign	2 labs	29b09af11a
21:47818156 PCNT C>G	21	47818156	47818156	C	G	PCNT	c.4571C>G	NM_006031.6	NP_006022.3:p.(Pro1524Arg)	NC_000021.8:g.47818156C>G	(Likely) benign	3 labs	29c491da90
3:184071601 CLCN2 C>T	3	184071601	184071601	C	T	CLCN2	c.1722-18G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184071601C>T	(Likely) benign	2 labs	29ee162fa7
8:145006992 PLEC C>T	8	145006992	145006992	C	T	PLEC	c.1706G>A	NM_201384.3	NP_958786.1:p.(Arg569Gln)	NC_000008.10:g.145006992C>T	(Likely) benign	3 labs	29f96f7bfc
20:61455791 COL9A3 C>T	20	61455791	61455791	C	T	COL9A3	c.520-6C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61455791C>T	(Likely) benign	2 labs	2a0192a816
19:41211045 COQ8B G>A	19	41211045	41211045	G	A	COQ8B	c.532C>T	NM_024876.4	NP_079152.3:p.(Arg178Trp)	NC_000019.9:g.41211045G>A	(Likely) pathogenic	2 labs	2a3f3d63f7
3:37061779 MLH1 TTC>T	3	37061779	37061786	TTC	T	MLH1	c.885-16_885-15del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37061785_37061786del	(Likely) benign	4 labs	2a4299833c
12:6457062 SCNN1A T>C	12	6457062	6457062	T	C	SCNN1A	c.2164A>G	NM_001159576.2	NP_001153048.1:p.(Thr722Ala)	NC_000012.11:g.6457062T>C	(Likely) benign	2 labs	2a6d4dfcdd
15:99467930 IGF1R G>A	15	99467930	99467930	G	A	IGF1R	c.2782+17G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467930G>A	(Likely) benign	3 labs	2a73759889
X:154005088 DKC1 C>CAAG	X	154005088	154005111	C	CAAG	DKC1	c.1512_1514dup	NM_001363.5	NP_001354.1:p.(Lys505dup)	NC_000023.10:g.154005109_154005111dup	(Likely) benign	3 labs	2a90eb483a
2:215645989 BARD1 T>G	2	215645989	215645989	T	G	BARD1	c.609A>C	NM_000465.4	NP_000456.2:p.(Gly203=)	NC_000002.11:g.215645989T>G	(Likely) benign	4 labs	2abdf76e1b
1:247588858 NLRP3 C>A	1	247588858	247588858	C	A	NLRP3	c.2107C>A	NM_001243133.2	NP_001230062.1:p.(Gln703Lys)	NC_000001.10:g.247588858C>A	(Likely) benign	5 labs	2abe66be60
1:36935408 CSF3R C>T	1	36935408	36935408	C	T	CSF3R	c.1319G>A	NM_000760.4	NP_000751.1:p.(Arg440Gln)	NC_000001.10:g.36935408C>T	(Likely) benign	3 labs	2ad61b2da9
X:32486756 DMD C>T	X	32486756	32486756	C	T	DMD	c.3021G>A	NM_004006.3	NP_003997.2:p.(Ser1007=)	NC_000023.10:g.32486756C>T	(Likely) benign	3 labs	2ae51d7684
X:153583007 FLNA C>T	X	153583007	153583007	C	T	FLNA	c.5290G>A	NM_001110556.2	NP_001104026.1:p.(Ala1764Thr)	NC_000023.10:g.153583007C>T	(Likely) benign	4 labs	2ae74d65c6
14:95560444 DICER1 G>A	14	95560444	95560444	G	A	DICER1	c.5145C>T	NM_177438.3	NP_803187.1:p.(Leu1715=)	NC_000014.8:g.95560444G>A	(Likely) benign	6 labs	2aee8a951a
17:56772543 RAD51C C>A	17	56772543	56772543	C	A	RAD51C	c.397C>A	NM_058216.3	NP_478123.1:p.(Gln133Lys)	NC_000017.10:g.56772543C>A	VUS	2 labs	2af6417bcb
17:29554625 NF1 G>T	17	29554625	29554625	G	T	NF1	c.2409+1G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29554625G>T	(Likely) pathogenic	2 labs	2afc78a4b0
1:45797186 MUTYH T>TCC	1	45797186	45797189	T	TCC	MUTYH	c.1143_1144dup	NM_001048174.2	NP_001041639.1:p.(Glu382GlyfsTer43)	NC_000001.10:g.45797188_45797189dup	(Likely) pathogenic	2 labs	2b0940423a
16:2159714 PKD1 C>T	16	2159714	2159714	C	T	PKD1	c.5454G>A	NM_001009944.3	NP_001009944.3:p.(Ala1818=)	NC_000016.9:g.2159714C>T	(Likely) benign	2 labs	2b291ad5db
1:120465262 NOTCH2 C>T	1	120465262	120465262	C	T	NOTCH2	c.4999G>A	NM_024408.4	NP_077719.2:p.(Val1667Ile)	NC_000001.10:g.120465262C>T	(Likely) benign	5 labs	2b56ccac15
2:179643816 TTN G>A	2	179643816	179643816	G	A	TTN	c.3993C>T	NM_001267550.2	NP_001254479.2:p.(Ile1331=)	NC_000002.11:g.179643816G>A	(Likely) benign	4 labs	2b9f267215
10:88441570 LDB3 G>A	10	88441570	88441570	G	A	LDB3	c.689+10G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88441570G>A	(Likely) benign	5 labs	2ba308cb37
8:144997503 PLEC G>A	8	144997503	144997503	G	A	PLEC	c.6594C>T	NM_201384.3	NP_958786.1:p.(Thr2198=)	NC_000008.10:g.144997503G>A	(Likely) benign	4 labs	2bd757dc6b
1:103380379 COL11A1 T>TAA	1	103380379	103380392	T	TAA	COL11A1	c.3817-14_3817-13dup	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103380391_103380392dup	(Likely) benign	3 labs	2c145767f3
2:179477529 TTN C>G	2	179477529	179477529	C	G	TTN	c.49919G>C	NM_001267550.2	NP_001254479.2:p.(Ser16640Thr)	NC_000002.11:g.179477529C>G	(Likely) benign	5 labs	2c1c081b42
6:119177587 MCM9 C>T	6	119177587	119177587	C	T	MCM9	c.1272G>A	NM_017696.3	NP_060166.2:p.(Arg424=)	NC_000006.11:g.119177587C>T	(Likely) benign	3 labs	2c29fdc2e9
21:47831866 PCNT G>A	21	47831866	47831866	G	A	PCNT	c.5879G>A	NM_006031.6	NP_006022.3:p.(Arg1960Gln)	NC_000021.8:g.47831866G>A	(Likely) benign	2 labs	2c32045aac
16:2154640 PKD1 G>A	16	2154640	2154640	G	A	PKD1	c.8020C>T	NM_001009944.3	NP_001009944.3:p.(Pro2674Ser)	NC_000016.9:g.2154640G>A	(Likely) benign	2 labs	2c3ced767e
14:23899793 MYH7 G>A	14	23899793	23899793	G	A	MYH7	c.975C>T	NM_000257.4	NP_000248.2:p.(Asp325=)	NC_000014.8:g.23899793G>A	(Likely) benign	6 labs	2c41780de0
17:41256877 BRCA1 A>G	17	41256877	41256877	A	G	BRCA1	c.301+8T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256877A>G	(Likely) benign	3 labs	2c5fcbfad3
1:235963637 LYST T>G	1	235963637	235963637	T	G	LYST	c.3989A>C	NM_000081.4	NP_000072.2:p.(Asp1330Ala)	NC_000001.10:g.235963637T>G	(Likely) benign	2 labs	2c908d7107
5:112155068 APC G>A	5	112155068	112155068	G	A	APC	c.1312+27G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155068G>A	(Likely) benign	4 labs	2ce2c44371
2:179659891 TTN C>T	2	179659891	179659891	C	T	TTN	c.1003G>A	NM_001267550.2	NP_001254479.2:p.(Val335Met)	NC_000002.11:g.179659891C>T	(Likely) benign	4 labs	2cee12e3c9
6:70972993 COL9A1 T>C	6	70972993	70972993	T	C	COL9A1	c.1349A>G	NM_001851.6	NP_001842.3:p.(Glu450Gly)	NC_000006.11:g.70972993T>C	(Likely) benign	3 labs	2d4833611f
1:21889760 ALPL G>A	1	21889760	21889760	G	A	ALPL	c.455G>A	NM_000478.6	NP_000469.3:p.(Arg152His)	NC_000001.10:g.21889760G>A	(Likely) benign	2 labs	2d4ac8fee9
8:145741142 RECQL4 T>A	8	145741142	145741142	T	A	RECQL4	c.1258+6A>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145741142T>A	(Likely) benign	3 labs	2d59ee78be
16:53653005 RPGRIP1L G>C	16	53653005	53653005	G	C	RPGRIP1L	c.3548C>G	NM_015272.5	NP_056087.2:p.(Ala1183Gly)	NC_000016.9:g.53653005G>C	(Likely) benign	2 labs	2d6cd5fc04
1:22160001 HSPG2 C>T	1	22160001	22160001	C	T	HSPG2	c.10937G>A	NM_005529.7	NP_005520.4:p.(Arg3646His)	NC_000001.10:g.22160001C>T	(Likely) benign	2 labs	2d70c6914f
17:29556837 NF1 T>C	17	29556837	29556837	T	C	NF1	c.2851-16T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29556837T>C	(Likely) benign	4 labs	2d7446d12d
5:1279439 TERT G>A	5	1279439	1279439	G	A	TERT	c.2097C>T	NM_198253.3	NP_937983.2:p.(Ala699=)	NC_000005.9:g.1279439G>A	(Likely) benign	4 labs	2d97006633
12:133253974 POLE C>T	12	133253974	133253974	C	T	POLE	c.776G>A	NM_006231.4	NP_006222.2:p.(Arg259His)	NC_000012.11:g.133253974C>T	(Likely) benign	4 labs	2daf7ac761
12:110230597 TRPV4 C>T	12	110230597	110230597	C	T	TRPV4	c.1684G>A	NM_021625.5	NP_067638.3:p.(Val562Ile)	NC_000012.11:g.110230597C>T	(Likely) benign	4 labs	2de8f0bb96
11:68701363 IGHMBP2 C>T	11	68701363	68701363	C	T	IGHMBP2	c.1519C>T	NM_002180.3	NP_002171.2:p.(Gln507Ter)	NC_000011.9:g.68701363C>T	(Likely) pathogenic	2 labs	2def2f9478
19:13318672 CACNA1A C>CCTG	19	13318672	13318712	C	CCTG	CACNA1A	c.6973_6975dup	NM_001127222.2	NP_001120694.1:p.(Gln2325dup)	NC_000019.9:g.13318710_13318712dup	(Likely) benign	4 labs	2df274c228
17:76127746 TMC8 T>C	17	76127746	76127746	T	C	TMC8	c.77T>C	NM_152468.5	NP_689681.2:p.(Met26Thr)	NC_000017.10:g.76127746T>C	(Likely) benign	2 labs	2df2ce12e0
X:130412680 IGSF1 T>G	X	130412680	130412680	T	G	IGSF1	c.1796A>C	NM_001555.5	NP_001546.2:p.(Asn599Thr)	NC_000023.10:g.130412680T>G	(Likely) benign	2 labs	309bf7b467
2:179500790 TTN A>G	2	179500790	179500790	A	G	TTN	c.41508T>C	NM_001267550.2	NP_001254479.2:p.(Ala13836=)	NC_000002.11:g.179500790A>G	(Likely) benign	4 labs	2e3a68bdf1
12:102190521 GNPTAB C>T	12	102190521	102190521	C	T	GNPTAB	c.137G>A	NM_024312.5	NP_077288.2:p.(Arg46Gln)	NC_000012.11:g.102190521C>T	(Likely) benign	2 labs	2e51ffcfcf
7:16348211 CRPPA T>C	7	16348211	16348211	T	C	CRPPA	c.726A>G	NM_001101426.4	NP_001094896.1:p.(Gln242=)	NC_000007.13:g.16348211T>C	(Likely) benign	2 labs	2e699333e3
9:5073770 JAK2 G>T	9	5073770	5073770	G	T	JAK2	c.1849G>T	NM_004972.4	NP_004963.1:p.(Val617Phe)	NC_000009.11:g.5073770G>T	(Likely) pathogenic	2 labs	2e6f83b29b
21:35742817 KCNE2 G>A	21	35742817	35742817	G	A	KCNE2	c.40G>A	NM_172201.2	NP_751951.1:p.(Val14Ile)	NC_000021.8:g.35742817G>A	(Likely) benign	2 labs	2e853e03e9
14:23901012 MYH7 T>C	14	23901012	23901012	T	C	MYH7	c.597A>G	NM_000257.4	NP_000248.2:p.(Ala199=)	NC_000014.8:g.23901012T>C	(Likely) benign	6 labs	2ecaccb5c6
2:179448315 TTN A>C	2	179448315	179448315	A	C	TTN	c.65575+19T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448315A>C	(Likely) benign	3 labs	2ecdb98799
3:33087662 GLB1 C>T	3	33087662	33087662	C	T	GLB1	c.1018G>A	NM_000404.4	NP_000395.3:p.(Ala340Thr)	NC_000003.11:g.33087662C>T	VUS	2 labs	2ed3e9a8a1
2:47698108 MSH2 T>C	2	47698108	47698108	T	C	MSH2	c.1666T>C	NM_000251.3	NP_000242.1:p.(Leu556=)	NC_000002.11:g.47698108T>C	(Likely) benign	5 labs	2f09e38248
7:6031675 PMS2 A>G	7	6031675	6031675	A	G	PMS2	c.917T>C	NM_000535.7	NP_000526.2:p.(Val306Ala)	NC_000007.13:g.6031675A>G	VUS	3 labs	2f141813f5
9:135942339 CEL G>A	9	135942339	135942339	G	A	CEL	c.777+7G>A	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942339G>A	(Likely) benign	2 labs	2f45830359
19:50906785 POLD1 C>T	19	50906785	50906785	C	T	POLD1	c.1173C>T	NM_002691.4	NP_002682.2:p.(Asp391=)	NC_000019.9:g.50906785C>T	(Likely) benign	3 labs	2f5ffafcf9
5:126140540 LMNB1 G>A	5	126140540	126140540	G	A	LMNB1	c.432G>A	NM_005573.4	NP_005564.1:p.(Ser144=)	NC_000005.9:g.126140540G>A	(Likely) benign	2 labs	2f838ba318
15:100672282 ADAMTS17 C>T	15	100672282	100672282	C	T	ADAMTS17	c.1651G>A	NM_139057.4	NP_620688.2:p.(Ala551Thr)	NC_000015.9:g.100672282C>T	(Likely) benign	2 labs	2fa77d3792
9:35794113 NPR2 C>A	9	35794113	35794113	C	A	NPR2	c.873+13C>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35794113C>A	(Likely) benign	2 labs	2fab9fb1bd
19:50910610 POLD1 C>T	19	50910610	50910610	C	T	POLD1	c.1713C>T	NM_002691.4	NP_002682.2:p.(Pro571=)	NC_000019.9:g.50910610C>T	(Likely) benign	2 labs	2fb70c7b6c
19:3119198 GNA11 C>T	19	3119198	3119198	C	T	GNA11	c.736-6C>T	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3119198C>T	(Likely) benign	3 labs	2fbcfac3d5
1:92754667 GLMN C>T	1	92754667	92754667	C	T	GLMN	c.436G>A	NM_053274.3	NP_444504.1:p.(Ala146Thr)	NC_000001.10:g.92754667C>T	(Likely) benign	2 labs	2fcc1a1a2d
10:89503310 PAPSS2 C>T	10	89503310	89503310	C	T	PAPSS2	c.1403C>T	NM_001015880.2	NP_001015880.1:p.(Ala468Val)	NC_000010.10:g.89503310C>T	(Likely) benign	2 labs	2fd04abd21
2:238275569 COL6A3 T>C	2	238275569	238275569	T	C	COL6A3	c.5261A>G	NM_004369.4	NP_004360.2:p.(Lys1754Arg)	NC_000002.11:g.238275569T>C	(Likely) benign	3 labs	2ff6695d59
11:108198391 ATM T>C	11	108198391	108198391	T	C	ATM	c.6995T>C	NM_000051.4	NP_000042.3:p.(Leu2332Pro)	NC_000011.9:g.108198391T>C	(Likely) benign	6 labs	3003225806
15:51514572 CYP19A1 G>A	15	51514572	51514572	G	A	CYP19A1	c.602C>T	NM_000103.4	NP_000094.2:p.(Thr201Met)	NC_000015.9:g.51514572G>A	(Likely) benign	3 labs	30172ced69
2:71825677 DYSF C>T	2	71825677	71825677	C	T	DYSF	c.3575-17C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71825677C>T	(Likely) benign	3 labs	3027b7b1b2
9:135946953 CEL C>G	9	135946953	135946953	C	G	CEL	c.2064C>G	NM_001807.6	NP_001798.3:p.(Gly688=)	NC_000009.11:g.135946953C>G	(Likely) benign	2 labs	305a2de45b
2:96920564 TMEM127 G>A	2	96920564	96920564	G	A	TMEM127	c.409+7C>T	NM_017849.4	NP_060319.1:p.?	NC_000002.11:g.96920564G>A	(Likely) benign	5 labs	3061ac6724
11:89028410 TYR C>CT	11	89028410	89028411	C	CT	TYR	c.1467dup	NM_000372.5	NP_000363.1:p.(Ala490CysfsTer20)	NC_000011.9:g.89028411dup	(Likely) pathogenic	3 labs	3080b30968
X:32716132 DMD G>T	X	32716132	32716132	G	T	DMD	c.832-17C>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32716132G>T	(Likely) benign	5 labs	30c068b7d4
17:59853798 BRIP1 C>G	17	59853798	59853798	C	G	BRIP1	c.2061G>C	NM_032043.3	NP_114432.2:p.(Val687=)	NC_000017.10:g.59853798C>G	(Likely) benign	4 labs	30c9fb1ffa
6:51512887 PKHD1 A>G	6	51512887	51512887	A	G	PKHD1	c.11340T>C	NM_138694.4	NP_619639.3:p.(Pro3780=)	NC_000006.11:g.51512887A>G	(Likely) benign	3 labs	30cbe8eb4d
8:145739416 RECQL4 C>T	8	145739416	145739416	C	T	RECQL4	c.1954G>A	NM_004260.4	NP_004251.4:p.(Val652Met)	NC_000008.10:g.145739416C>T	(Likely) benign	3 labs	30ddcf9c46
4:3475314 DOK7 C>T	4	3475314	3475314	C	T	DOK7	c.282C>T	NM_173660.5	NP_775931.3:p.(His94=)	NC_000004.11:g.3475314C>T	(Likely) benign	2 labs	3116788bf5
1:92944314 GFI1 CAGAGAGAGAG>C	1	92944314	92944351	CAGAGAGAGAG	C	GFI1	c.925-14_925-5del	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944342_92944351del	(Likely) benign	4 labs	311b6a1cc1
10:99498296 ZFYVE27 C>T	10	99498296	99498296	C	T	ZFYVE27	c.62C>T	NM_001385875.1	NP_001372804.1:p.(Ala21Val)	NC_000010.10:g.99498296C>T	(Likely) benign	4 labs	31299c7997
7:66453476 SBDS A>G	7	66453476	66453476	A	G	SBDS	c.635T>C	NM_016038.4	NP_057122.2:p.(Ile212Thr)	NC_000007.13:g.66453476A>G	(Likely) benign	4 labs	313dbde572
2:179579977 TTN G>A	2	179579977	179579977	G	A	TTN	c.25936C>T	NM_001267550.2	NP_001254479.2:p.(Arg8646Cys)	NC_000002.11:g.179579977G>A	(Likely) benign	5 labs	318425d456
2:179431540 TTN C>T	2	179431540	179431540	C	T	TTN	c.79319G>A	NM_001267550.2	NP_001254479.2:p.(Arg26440His)	NC_000002.11:g.179431540C>T	(Likely) benign	4 labs	3199f1e88c
7:5569298 ACTB C>A	7	5569298	5569298	C	A	ACTB	c.-6-4G>T	NM_001101.5	NP_001092.1:p.?	NC_000007.13:g.5569298C>A	(Likely) benign	3 labs	3199fe0447
2:47643476 MSH2 C>T	2	47643476	47643476	C	T	MSH2	c.984C>T	NM_000251.3	NP_000242.1:p.(Ala328=)	NC_000002.11:g.47643476C>T	(Likely) benign	6 labs	31d008d127
9:36882049 PAX5 C>T	9	36882049	36882049	C	T	PAX5	c.964G>A	NM_016734.3	NP_057953.1:p.(Ala322Thr)	NC_000009.11:g.36882049C>T	(Likely) benign	2 labs	31ef185e3d
2:73717531 ALMS1 A>G	2	73717531	73717531	A	G	ALMS1	c.8448A>G	NM_015120.4	NP_055935.4:p.(Ser2816=)	NC_000002.11:g.73717531A>G	(Likely) benign	4 labs	31f6d6a8bb
11:22242646 ANO5 C>CA	11	22242646	22242653	C	CA	ANO5	c.191dup	NM_213599.3	NP_998764.1:p.(Asn64LysfsTer15)	NC_000011.9:g.22242653dup	(Likely) pathogenic	5 labs	32358d1bf9
12:133201587 POLE G>T	12	133201587	133201587	G	T	POLE	c.6658-7C>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133201587G>T	(Likely) benign	2 labs	326457984f
13:32930598 BRCA2 T>C	13	32930598	32930598	T	C	BRCA2	c.7469T>C	NM_000059.4	NP_000050.3:p.(Ile2490Thr)	NC_000013.10:g.32930598T>C	(Likely) benign	6 labs	32765c18fd
13:32953549 BRCA2 G>T	13	32953549	32953549	G	T	BRCA2	c.8850G>T	NM_000059.4	NP_000050.3:p.(Lys2950Asn)	NC_000013.10:g.32953549G>T	(Likely) benign	7 labs	32a4c784c2
3:37067129 MLH1 C>A	3	37067129	37067129	C	A	MLH1	c.1040C>A	NM_000249.4	NP_000240.1:p.(Thr347Asn)	NC_000003.11:g.37067129C>A	(Likely) benign	5 labs	32caa55e14
5:149504348 PDGFRB C>T	5	149504348	149504348	C	T	PDGFRB	c.1854G>A	NM_002609.4	NP_002600.1:p.(Thr618=)	NC_000005.9:g.149504348C>T	(Likely) benign	4 labs	32f5dba10d
13:110861757 COL4A1 G>A	13	110861757	110861757	G	A	COL4A1	c.633C>T	NM_001845.6	NP_001836.3:p.(Pro211=)	NC_000013.10:g.110861757G>A	(Likely) benign	3 labs	33135b5637
13:32900617 BRCA2 C>T	13	32900617	32900617	C	T	BRCA2	c.517-19C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900617C>T	(Likely) benign	6 labs	3328a61be1
19:856130 ELANE C>T	19	856130	856130	C	T	ELANE	c.770C>T	NM_001972.4	NP_001963.1:p.(Pro257Leu)	NC_000019.9:g.856130C>T	(Likely) benign	4 labs	333be87c75
17:63532527 AXIN2 C>T	17	63532527	63532527	C	T	AXIN2	c.2052G>A	NM_004655.4	NP_004646.3:p.(Ala684=)	NC_000017.10:g.63532527C>T	(Likely) benign	4 labs	3398866abe
X:153296677 MECP2 G>A	X	153296677	153296677	G	A	MECP2	c.638C>T	NM_001110792.2	NP_001104262.1:p.(Ala213Val)	NC_000023.10:g.153296677G>A	(Likely) benign	4 labs	33b64cd9b9
7:116166704 CAV1 C>T	7	116166704	116166704	C	T	CAV1	c.156C>T	NM_001753.5	NP_001744.2:p.(Val52=)	NC_000007.13:g.116166704C>T	(Likely) benign	2 labs	33d3d8abf1
15:42703209 CAPN3 GA>G	15	42703209	42703210	GA	G	CAPN3	c.2380+12del	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42703210del	(Likely) benign	3 labs	3425ec146e
2:71839751 DYSF G>A	2	71839751	71839751	G	A	DYSF	c.4222-20G>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71839751G>A	(Likely) benign	2 labs	34291d342b
2:179433580 TTN T>C	2	179433580	179433580	T	C	TTN	c.77279A>G	NM_001267550.2	NP_001254479.2:p.(Asn25760Ser)	NC_000002.11:g.179433580T>C	(Likely) benign	4 labs	342a7a9a6f
16:2112521 TSC2 C>A	16	2112521	2112521	C	A	TSC2	c.1281C>A	NM_000548.5	NP_000539.2:p.(Ile427=)	NC_000016.9:g.2112521C>A	(Likely) benign	3 labs	344e8539a8
5:42695161 GHR G>C	5	42695161	42695161	G	C	GHR	c.409G>C	NM_000163.5	NP_000154.1:p.(Asp137His)	NC_000005.9:g.42695161G>C	VUS	2 labs	3450d1d7c2
7:6026685 PMS2 G>T	7	6026685	6026685	G	T	PMS2	c.1711C>A	NM_000535.7	NP_000526.2:p.(Leu571Ile)	NC_000007.13:g.6026685G>T	(Likely) benign	5 labs	34718efe97
12:112888239 PTPN11 C>T	12	112888239	112888239	C	T	PTPN11	c.255C>T	NM_002834.5	NP_002825.3:p.(His85=)	NC_000012.11:g.112888239C>T	(Likely) benign	3 labs	34be21939d
1:100340782 AGL G>T	1	100340782	100340782	G	T	AGL	c.1155G>T	NM_000642.3	NP_000633.2:p.(Lys385Asn)	NC_000001.10:g.100340782G>T	(Likely) benign	3 labs	34d9755eeb
X:54521756 FGD1 G>A	X	54521756	54521756	G	A	FGD1	c.110C>T	NM_004463.3	NP_004454.2:p.(Ala37Val)	NC_000023.10:g.54521756G>A	(Likely) benign	3 labs	34f4ebe072
1:26131638 SELENON A>G	1	26131638	26131638	A	G	SELENON	c.307A>G	NM_206926.2	NP_996809.1:p.(Thr103Ala)	NC_000001.10:g.26131638A>G	(Likely) benign	3 labs	34fc5cc7b1
5:225697 SDHA G>C	5	225697	225697	G	C	SDHA	c.456+20G>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.225697G>C	(Likely) benign	4 labs	351a289700
16:75681756 TERF2IP C>A	16	75681756	75681756	C	A	TERF2IP	c.-25C>A	NM_018975.4	NP_061848.2:p.?	NC_000016.9:g.75681756C>A	(Likely) benign	2 labs	3532497169
7:42005588 GLI3 C>A	7	42005588	42005588	C	A	GLI3	c.3083G>T	NM_000168.6	NP_000159.3:p.(Ser1028Ile)	NC_000007.13:g.42005588C>A	(Likely) benign	3 labs	35736e7e8b
5:112174456 APC A>T	5	112174456	112174456	A	T	APC	c.3165A>T	NM_000038.6	NP_000029.2:p.(Ile1055=)	NC_000005.9:g.112174456A>T	(Likely) benign	6 labs	3580f9ba4c
10:88451715 LDB3 A>G	10	88451715	88451715	A	G	LDB3	c.752A>G	NM_007078.3	NP_009009.1:p.(Lys251Arg)	NC_000010.10:g.88451715A>G	(Likely) benign	6 labs	359648a314
3:49548225 DAG1 G>C	3	49548225	49548225	G	C	DAG1	c.258G>C	NM_004393.6	NP_004384.5:p.(Leu86Phe)	NC_000003.11:g.49548225G>C	(Likely) benign	3 labs	35d1b750ce
10:104359297 SUFU G>T	10	104359297	104359297	G	T	SUFU	c.1018G>T	NM_016169.4	NP_057253.2:p.(Ala340Ser)	NC_000010.10:g.104359297G>T	(Likely) benign	4 labs	35ea0053c4
19:39010101 RYR1 G>A	19	39010101	39010101	G	A	RYR1	c.10259+7G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39010101G>A	(Likely) benign	3 labs	3616f88897
2:179395573 TTN C>T	2	179395573	179395573	C	T	TTN	c.105769G>A	NM_001267550.2	NP_001254479.2:p.(Glu35257Lys)	NC_000002.11:g.179395573C>T	(Likely) benign	5 labs	3678cbd598
11:108119654 ATM T>G	11	108119654	108119654	T	G	ATM	c.1066-6T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108119654T>G	(Likely) benign	7 labs	3694c0f620
9:130586657 ENG G>A	9	130586657	130586657	G	A	ENG	c.1060C>T	NM_001114753.3	NP_001108225.1:p.(Leu354=)	NC_000009.11:g.130586657G>A	(Likely) benign	2 labs	36a97581bc
13:110858992 COL4A1 G>A	13	110858992	110858992	G	A	COL4A1	c.858+20C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110858992G>A	(Likely) benign	3 labs	36d94de51c
19:15272420 NOTCH3 G>A	19	15272420	15272420	G	A	NOTCH3	c.6019C>T	NM_000435.3	NP_000426.2:p.(Leu2007=)	NC_000019.9:g.15272420G>A	(Likely) benign	2 labs	370eb18e97
14:75513826 MLH3 T>C	14	75513826	75513826	T	C	MLH3	c.2533A>G	NM_001040108.2	NP_001035197.1:p.(Ser845Gly)	NC_000014.8:g.75513826T>C	(Likely) benign	3 labs	3761d8b7f0
22:51159258 SHANK3 C>T	22	51159258	51159258	C	T	SHANK3	c.3222C>T	NM_001372044.2	NP_001358973.1:p.(Tyr1074=)	NC_000022.10:g.51159258C>T	(Likely) benign	2 labs	37be0ce3e6
22:29121016 CHEK2 G>A	22	29121016	29121016	G	A	CHEK2	c.541C>T	NM_007194.4	NP_009125.1:p.(Arg181Cys)	NC_000022.10:g.29121016G>A	VUS	4 labs	3832bf7898
2:215595203 BARD1 A>G	2	215595203	215595203	A	G	BARD1	c.1933T>C	NM_000465.4	NP_000456.2:p.(Cys645Arg)	NC_000002.11:g.215595203A>G	(Likely) benign	3 labs	38a93db4a5
5:42719082 GHR C>T	5	42719082	42719082	C	T	GHR	c.1473C>T	NM_000163.5	NP_000154.1:p.(Ser491=)	NC_000005.9:g.42719082C>T	(Likely) benign	2 labs	390a82ca92
16:2139875 PKD1 G>A	16	2139875	2139875	G	A	PKD1	c.12765C>T	NM_001009944.3	NP_001009944.3:p.(Pro4255=)	NC_000016.9:g.2139875G>A	(Likely) benign	2 labs	39456fbc45
2:179528788 TTN T>C	2	179528788	179528788	T	C	TTN	c.36318A>G	NM_001267550.2	NP_001254479.2:p.(Lys12106=)	NC_000002.11:g.179528788T>C	(Likely) benign	4 labs	3964893ad3
6:152679518 SYNE1 C>T	6	152679518	152679518	C	T	SYNE1	c.10598G>A	NM_182961.4	NP_892006.3:p.(Arg3533His)	NC_000006.11:g.152679518C>T	(Likely) benign	4 labs	396dc7d761
17:56780540 RAD51C G>T	17	56780540	56780540	G	T	RAD51C	c.572-17G>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56780540G>T	(Likely) benign	4 labs	3972cb2827
15:43021505 CDAN1 C>T	15	43021505	43021505	C	T	CDAN1	c.2463G>A	NM_138477.4	NP_612486.2:p.(Gly821=)	NC_000015.9:g.43021505C>T	(Likely) benign	2 labs	397a050003
19:13409419 CACNA1A G>C	19	13409419	13409419	G	C	CACNA1A	c.3028C>G	NM_001127222.2	NP_001120694.1:p.(Pro1010Ala)	NC_000019.9:g.13409419G>C	(Likely) benign	2 labs	39cb003a24
4:55599268 KIT C>T	4	55599268	55599268	C	T	KIT	c.2394C>T	NM_000222.3	NP_000213.1:p.(Ile798=)	NC_000004.11:g.55599268C>T	(Likely) benign	3 labs	39d010aa3e
5:112174470 APC TAAAAC>T	5	112174470	112174478	TAAAAC	T	APC	c.3183_3187del	NM_000038.6	NP_000029.2:p.(Gln1062Ter)	NC_000005.9:g.112174474_112174478del	(Likely) pathogenic	3 labs	39d378f195
X:32716133 DMD G>C	X	32716133	32716133	G	C	DMD	c.832-18C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32716133G>C	(Likely) benign	5 labs	39e5395600
14:50117073 POLE2 C>CA	14	50117073	50117076	C	CA	POLE2	c.1406dup	NM_002692.4	NP_002683.2:p.(Leu469PhefsTer17)	NC_000014.8:g.50117076dup	VUS	2 labs	39e98cf6b4
17:59885856 BRIP1 T>C	17	59885856	59885856	T	C	BRIP1	c.890A>G	NM_032043.3	NP_114432.2:p.(Lys297Arg)	NC_000017.10:g.59885856T>C	(Likely) benign	6 labs	39f1ce5937
2:179610967 TTN C>T	2	179610967	179610967	C	T	TTN	c.11312-4319G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179610967C>T	(Likely) benign	6 labs	39f426c355
13:32911278 BRCA2 T>C	13	32911278	32911278	T	C	BRCA2	c.2786T>C	NM_000059.4	NP_000050.3:p.(Leu929Ser)	NC_000013.10:g.32911278T>C	(Likely) benign	6 labs	3a270a609e
11:64577147 MEN1 G>A	11	64577147	64577147	G	A	MEN1	c.435C>T	NM_001370259.2	NP_001357188.2:p.(Ser145=)	NC_000011.9:g.64577147G>A	(Likely) benign	3 labs	3a310cd99a
X:148037640 AFF2 C>T	X	148037640	148037640	C	T	AFF2	c.2065C>T	NM_002025.4	NP_002016.2:p.(Pro689Ser)	NC_000023.10:g.148037640C>T	(Likely) benign	2 labs	3a36d3ae6d
7:128491497 FLNC C>T	7	128491497	128491497	C	T	FLNC	c.5669-12C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491497C>T	(Likely) benign	4 labs	3a43ddd3ce
17:29653237 NF1 G>A	17	29653237	29653237	G	A	NF1	c.5235G>A	NM_001042492.3	NP_001035957.1:p.(Lys1745=)	NC_000017.10:g.29653237G>A	(Likely) benign	5 labs	3a49ba7068
10:72360387 PRF1 G>A	10	72360387	72360387	G	A	PRF1	c.272C>T	NM_001083116.3	NP_001076585.1:p.(Ala91Val)	NC_000010.10:g.72360387G>A	(Likely) benign	3 labs	3a995ac051
17:63532455 AXIN2 C>G	17	63532455	63532455	C	G	AXIN2	c.2124G>C	NM_004655.4	NP_004646.3:p.(Ser708=)	NC_000017.10:g.63532455C>G	(Likely) benign	3 labs	3a9ce9ee13
16:2167852 PKD1 C>A	16	2167852	2167852	C	A	PKD1	c.1141G>T	NM_001009944.3	NP_001009944.3:p.(Gly381Cys)	NC_000016.9:g.2167852C>A	(Likely) pathogenic	2 labs	3aa300fdb5
2:179621184 TTN G>A	2	179621184	179621184	G	A	TTN	c.11019C>T	NM_001267550.2	NP_001254479.2:p.(Cys3673=)	NC_000002.11:g.179621184G>A	(Likely) benign	5 labs	3ab61eb080
1:235602193 TBCE A>G	1	235602193	235602193	A	G	TBCE	c.1226A>G	NM_003193.5	NP_003184.1:p.(Glu409Gly)	NC_000001.10:g.235602193A>G	(Likely) benign	3 labs	3acccf91d4
13:28498702 PDX1 C>A	13	28498702	28498702	C	A	PDX1	c.716C>A	NM_000209.4	NP_000200.1:p.(Pro239Gln)	NC_000013.10:g.28498702C>A	(Likely) benign	2 labs	3b00a559b8
14:64687305 SYNE2 G>A	14	64687305	64687305	G	A	SYNE2	c.20011G>A	NM_182914.3	NP_878918.2:p.(Ala6671Thr)	NC_000014.8:g.64687305G>A	(Likely) benign	4 labs	3b59b4114c
7:92761875 SAMD9L C>G	7	92761875	92761875	C	G	SAMD9L	c.3410G>C	NM_152703.5	NP_689916.2:p.(Gly1137Ala)	NC_000007.13:g.92761875C>G	(Likely) benign	2 labs	3b8aeb503a
20:43653713 STK4 C>T	20	43653713	43653713	C	T	STK4	c.1247C>T	NM_006282.5	NP_006273.1:p.(Pro416Leu)	NC_000020.10:g.43653713C>T	(Likely) benign	2 labs	3bc8e2847d
6:51750777 PKHD1 A>T	6	51750777	51750777	A	T	PKHD1	c.7110-7T>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51750777A>T	(Likely) benign	2 labs	3bcbd6cdff
5:233665 SDHA C>T	5	233665	233665	C	T	SDHA	c.969C>T	NM_004168.4	NP_004159.2:p.(Gly323=)	NC_000005.9:g.233665C>T	(Likely) benign	3 labs	3c059a0607
17:41243509 BRCA1 T>C	17	41243509	41243509	T	C	BRCA1	c.4039A>G	NM_007294.4	NP_009225.1:p.(Arg1347Gly)	NC_000017.10:g.41243509T>C	(Likely) benign	7 labs	3c2240dced
2:179585312 TTN G>A	2	179585312	179585312	G	A	TTN	c.23177C>T	NM_001267550.2	NP_001254479.2:p.(Ser7726Leu)	NC_000002.11:g.179585312G>A	(Likely) benign	5 labs	3c6344dd0b
19:1218494 STK11 G>A	19	1218494	1218494	G	A	STK11	c.369G>A	NM_000455.5	NP_000446.1:p.(Gln123=)	NC_000019.9:g.1218494G>A	(Likely) benign	3 labs	3cad1dd25b
8:126044499 WASHC5 C>T	8	126044499	126044499	C	T	WASHC5	c.3319G>A	NM_014846.4	NP_055661.3:p.(Val1107Met)	NC_000008.10:g.126044499C>T	(Likely) benign	2 labs	3caf438fb4
10:88466465 LDB3 C>T	10	88466465	88466465	C	T	LDB3	c.1074C>T	NM_007078.3	NP_009009.1:p.(Ala358=)	NC_000010.10:g.88466465C>T	(Likely) benign	6 labs	3cb1dcac4e
21:47423475 COL6A1 A>G	21	47423475	47423475	A	G	COL6A1	c.2635A>G	NM_001848.3	NP_001839.2:p.(Ser879Gly)	NC_000021.8:g.47423475A>G	(Likely) benign	3 labs	3ceb1f229b
5:112174555 APC G>A	5	112174555	112174555	G	A	APC	c.3264G>A	NM_000038.6	NP_000029.2:p.(Lys1088=)	NC_000005.9:g.112174555G>A	(Likely) benign	2 labs	3cfebae724
2:238277379 COL6A3 C>T	2	238277379	238277379	C	T	COL6A3	c.4727G>A	NM_004369.4	NP_004360.2:p.(Arg1576Gln)	NC_000002.11:g.238277379C>T	(Likely) benign	4 labs	3d43165b40
14:95566099 DICER1 ACACACACAC>A	14	95566099	95566108	ACACACACAC	A	DICER1	c.4206+9_4206+17del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566100_95566108del	(Likely) benign	4 labs	3d434bb2ec
6:119136726 MCM9 G>A	6	119136726	119136726	G	A	MCM9	c.2693C>T	NM_017696.3	NP_060166.2:p.(Ser898Phe)	NC_000006.11:g.119136726G>A	(Likely) benign	2 labs	3d919d78f8
2:179517605 TTN G>A	2	179517605	179517605	G	A	TTN	c.38929C>T	NM_001267550.2	NP_001254479.2:p.(Pro12977Ser)	NC_000002.11:g.179517605G>A	(Likely) benign	5 labs	3dd53aadbb
2:238296769 COL6A3 G>A	2	238296769	238296769	G	A	COL6A3	c.768C>T	NM_004369.4	NP_004360.2:p.(Val256=)	NC_000002.11:g.238296769G>A	(Likely) benign	3 labs	3ddd70e141
5:149449827 CSF1R C>T	5	149449827	149449827	C	T	CSF1R	c.1237G>A	NM_001288705.3	NP_001275634.1:p.(Gly413Ser)	NC_000005.9:g.149449827C>T	(Likely) benign	2 labs	3de1573432
2:47641559 MSH2 TAAAAAAA>T	2	47641559	47641586	TAAAAAAA	T	MSH2	c.942+23_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641580_47641586del	(Likely) benign	4 labs	3e10e7d4ed
1:10428570 KIF1B G>A	1	10428570	10428570	G	A	KIF1B	c.4798G>A	NM_001365951.3	NP_001352880.1:p.(Val1600Met)	NC_000001.10:g.10428570G>A	(Likely) benign	3 labs	3e94aaba0d
2:232995468 DIS3L2 T>G	2	232995468	232995468	T	G	DIS3L2	c.702+39T>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232995468T>G	(Likely) benign	2 labs	3ea33caefe
2:179441148 TTN G>C	2	179441148	179441148	G	C	TTN	c.69716-5C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179441148G>C	(Likely) benign	6 labs	3eb7b3cf6a
11:108186653 ATM T>C	11	108186653	108186653	T	C	ATM	c.6095+15T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108186653T>C	(Likely) benign	4 labs	3ee0b2f872
16:2141454 PKD1 G>A	16	2141454	2141454	G	A	PKD1	c.11682C>T	NM_001009944.3	NP_001009944.3:p.(Ser3894=)	NC_000016.9:g.2141454G>A	(Likely) benign	2 labs	3f07c06e87
17:63554469 AXIN2 G>A	17	63554469	63554469	G	A	AXIN2	c.270C>T	NM_004655.4	NP_004646.3:p.(Asp90=)	NC_000017.10:g.63554469G>A	(Likely) benign	5 labs	3f0abc89b3
5:171777393 SH3PXD2B G>A	5	171777393	171777393	G	A	SH3PXD2B	c.986C>T	NM_001017995.3	NP_001017995.1:p.(Pro329Leu)	NC_000005.9:g.171777393G>A	(Likely) benign	2 labs	3f0b76b8e8
15:28230247 OCA2 C>T	15	28230247	28230247	C	T	OCA2	c.1327G>A	NM_000275.3	NP_000266.2:p.(Val443Ile)	NC_000015.9:g.28230247C>T	(Likely) pathogenic	5 labs	3f12c9c7e5
2:179611847 TTN T>G	2	179611847	179611847	T	G	TTN	c.11312-5199A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611847T>G	(Likely) benign	2 labs	3f1ff9c7c0
17:41244861 BRCA1 CTT>C	17	41244861	41244864	CTT	C	BRCA1	c.2685_2686del	NM_007294.4	NP_009225.1:p.(Pro897LysfsTer5)	NC_000017.10:g.41244863_41244864del	(Likely) pathogenic	7 labs	3f2c31adb9
10:124249118 HTRA1 C>T	10	124249118	124249118	C	T	HTRA1	c.753C>T	NM_002775.5	NP_002766.1:p.(Ile251=)	NC_000010.10:g.124249118C>T	(Likely) benign	2 labs	3f33bdadfd
19:11145825 SMARCA4 C>T	19	11145825	11145825	C	T	SMARCA4	c.4170+17C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11145825C>T	(Likely) benign	3 labs	3f4c16ea21
14:75514138 MLH3 C>A	14	75514138	75514138	C	A	MLH3	c.2221G>T	NM_001040108.2	NP_001035197.1:p.(Val741Phe)	NC_000014.8:g.75514138C>A	(Likely) benign	3 labs	3f99e824d9
8:145002070 PLEC G>A	8	145002070	145002070	G	A	PLEC	c.3351C>T	NM_201384.3	NP_958786.1:p.(Ala1117=)	NC_000008.10:g.145002070G>A	(Likely) benign	2 labs	3fb7b08c69
2:15496430 NBAS T>C	2	15496430	15496430	T	C	NBAS	c.3928A>G	NM_015909.4	NP_056993.2:p.(Thr1310Ala)	NC_000002.11:g.15496430T>C	(Likely) benign	6 labs	3fc30a715b
16:2159341 PKD1 C>T	16	2159341	2159341	C	T	PKD1	c.5827G>A	NM_001009944.3	NP_001009944.3:p.(Val1943Ile)	NC_000016.9:g.2159341C>T	(Likely) benign	2 labs	3fe8e9b4c1
2:47698179 MSH2 A>G	2	47698179	47698179	A	G	MSH2	c.1737A>G	NM_000251.3	NP_000242.1:p.(Lys579=)	NC_000002.11:g.47698179A>G	(Likely) benign	6 labs	401802d7ab
12:88487680 CEP290 A>AT	12	88487680	88487688	A	AT	CEP290	c.3175dup	NM_025114.4	NP_079390.3:p.(Ile1059AsnfsTer11)	NC_000012.11:g.88487688dup	(Likely) pathogenic	5 labs	40be602d32
1:3102848 PRDM16 C>T	1	3102848	3102848	C	T	PRDM16	c.197C>T	NM_022114.3	NP_071397.3:p.(Ser66Leu)	NC_000001.10:g.3102848C>T	VUS	4 labs	40d696ad74
16:2152619 PKD1 C>T	16	2152619	2152619	C	T	PKD1	c.8964G>A	NM_001009944.3	NP_001009944.3:p.(Ala2988=)	NC_000016.9:g.2152619C>T	(Likely) benign	2 labs	40eafaf6b3
2:152487808 NEB A>T	2	152487808	152487808	A	T	NEB	c.9467T>A	NM_001164508.2	NP_001157980.2:p.(Ile3156Asn)	NC_000002.11:g.152487808A>T	(Likely) benign	2 labs	40ef10489f
2:152435887 NEB T>C	2	152435887	152435887	T	C	NEB	c.16669A>G	NM_001164508.2	NP_001157980.2:p.(Ile5557Val)	NC_000002.11:g.152435887T>C	(Likely) benign	2 labs	4100c3c8c9
22:29130458 CHEK2 T>C	22	29130458	29130458	T	C	CHEK2	c.252A>G	NM_007194.4	NP_009125.1:p.(Glu84=)	NC_000022.10:g.29130458T>C	(Likely) benign	4 labs	412f128a0e
11:20622937 SLC6A5 C>A	11	20622937	20622937	C	A	SLC6A5	c.266C>A	NM_004211.5	NP_004202.4:p.(Ala89Glu)	NC_000011.9:g.20622937C>A	(Likely) benign	3 labs	418497ceaf
12:6128170 VWF C>G	12	6128170	6128170	C	G	VWF	c.4414G>C	NM_000552.5	NP_000543.3:p.(Asp1472His)	NC_000012.11:g.6128170C>G	(Likely) benign	2 labs	4186238e97
16:23646448 PALB2 T>G	16	23646448	23646448	T	G	PALB2	c.1419A>C	NM_024675.4	NP_078951.2:p.(Pro473=)	NC_000016.9:g.23646448T>G	(Likely) benign	5 labs	41d91c0bfe
19:41201903 COQ8B A>AT	19	41201903	41201904	A	AT	COQ8B	c.1199dup	NM_024876.4	NP_079152.3:p.(His400GlnfsTer11)	NC_000019.9:g.41201904dup	(Likely) pathogenic	2 labs	41e4032a5c
17:8133650 CTC1 G>A	17	8133650	8133650	G	A	CTC1	c.2895C>T	NM_025099.6	NP_079375.3:p.(Ala965=)	NC_000017.10:g.8133650G>A	(Likely) benign	2 labs	421a9c4382
20:62326487 RTEL1 C>A	20	62326487	62326487	C	A	RTEL1	c.3412C>A	NM_001283009.2	NP_001269938.1:p.(Arg1138=)	NC_000020.10:g.62326487C>A	(Likely) benign	2 labs	421f191b87
2:179417091 TTN C>T	2	179417091	179417091	C	T	TTN	c.90536G>A	NM_001267550.2	NP_001254479.2:p.(Arg30179His)	NC_000002.11:g.179417091C>T	(Likely) benign	5 labs	42534effb7
19:50902659 POLD1 C>G	19	50902659	50902659	C	G	POLD1	c.234C>G	NM_002691.4	NP_002682.2:p.(Arg78=)	NC_000019.9:g.50902659C>G	(Likely) benign	3 labs	427f7a6ae8
1:120458270 NOTCH2 G>C	1	120458270	120458270	G	C	NOTCH2	c.7075C>G	NM_024408.4	NP_077719.2:p.(Pro2359Ala)	NC_000001.10:g.120458270G>C	(Likely) benign	5 labs	4281c9d4c8
2:166789554 TTC21B C>T	2	166789554	166789554	C	T	TTC21B	c.724G>A	NM_024753.5	NP_079029.3:p.(Asp242Asn)	NC_000002.11:g.166789554C>T	(Likely) benign	2 labs	42b5e90725
5:176637471 NSD1 G>A	5	176637471	176637471	G	A	NSD1	c.2071G>A	NM_022455.5	NP_071900.2:p.(Ala691Thr)	NC_000005.9:g.176637471G>A	(Likely) benign	5 labs	42c80e4b61
19:8654127 ADAMTS10 G>C	19	8654127	8654127	G	C	ADAMTS10	c.2157C>G	NM_030957.4	NP_112219.3:p.(Ala719=)	NC_000019.9:g.8654127G>C	(Likely) benign	2 labs	430b4cdc6e
10:89473061 PAPSS2 C>T	10	89473061	89473061	C	T	PAPSS2	c.375C>T	NM_001015880.2	NP_001015880.1:p.(Phe125=)	NC_000010.10:g.89473061C>T	(Likely) benign	2 labs	4312fe8f9f
7:91855043 KRIT1 A>C	7	91855043	91855043	A	C	KRIT1	c.1245T>G	NM_194454.3	NP_919436.1:p.(Ile415Met)	NC_000007.13:g.91855043A>C	(Likely) benign	3 labs	435e34ff30
10:112572055 RBM20 C>T	10	112572055	112572055	C	T	RBM20	c.1900C>T	NM_001134363.3	NP_001127835.2:p.(Arg634Trp)	NC_000010.10:g.112572055C>T	(Likely) pathogenic	4 labs	4363196398
11:108206575 ATM C>T	11	108206575	108206575	C	T	ATM	c.8155C>T	NM_000051.4	NP_000042.3:p.(Arg2719Cys)	NC_000011.9:g.108206575C>T	VUS	5 labs	43747c9f8d
17:39913771 JUP C>T	17	39913771	39913771	C	T	JUP	c.1942G>A	NM_002230.4	NP_002221.1:p.(Val648Ile)	NC_000017.10:g.39913771C>T	(Likely) benign	6 labs	438eed9a8b
5:89990447 ADGRV1 G>A	5	89990447	89990447	G	A	ADGRV1	c.7874G>A	NM_032119.4	NP_115495.3:p.(Arg2625His)	NC_000005.9:g.89990447G>A	(Likely) benign	4 labs	4393c0227a
8:145011320 PLEC C>T	8	145011320	145011320	C	T	PLEC	c.342+13G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145011320C>T	(Likely) benign	2 labs	439cba04a5
3:15686958 BTD C>T	3	15686958	15686958	C	T	BTD	c.1595C>T	NM_000060.4	NP_000051.1:p.(Thr532Met)	NC_000003.11:g.15686958C>T	(Likely) pathogenic	3 labs	43a37bbf90
16:2161724 PKD1 C>T	16	2161724	2161724	C	T	PKD1	c.3444G>A	NM_001009944.3	NP_001009944.3:p.(Pro1148=)	NC_000016.9:g.2161724C>T	(Likely) benign	2 labs	43d3bdf48f
21:47754471 PCNT GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA>G	21	47754471	47754548	GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	G	PCNT	c.467_505del	NM_006031.6	NP_006022.3:p.(His156_Gln168del)	NC_000021.8:g.47754510_47754548del	(Likely) benign	3 labs	43f642a2e0
7:151432997 PRKAG2 T>G	7	151432997	151432997	T	G	PRKAG2	c.83A>C	NM_001304527.2	NP_001291456.1:p.(His28Pro)	NC_000007.13:g.151432997T>G	(Likely) benign	2 labs	43fac857d0
11:108188136 ATM G>A	11	108188136	108188136	G	A	ATM	c.6235G>A	NM_000051.4	NP_000042.3:p.(Val2079Ile)	NC_000011.9:g.108188136G>A	(Likely) benign	6 labs	44ce1cd589
19:38990456 RYR1 C>T	19	38990456	38990456	C	T	RYR1	c.7209C>T	NM_000540.3	NP_000531.2:p.(Arg2403=)	NC_000019.9:g.38990456C>T	(Likely) benign	2 labs	44fe14ff04
19:42753061 ERF CTT>C	19	42753061	42753063	CTT	C	ERF				NC_000019.9:g.42753062_42753063del	(Likely) pathogenic	2 labs	4520acc152
4:55604597 KIT T>A	4	55604597	55604597	T	A	KIT	c.2805T>A	NM_000222.3	NP_000213.1:p.(Ile935=)	NC_000004.11:g.55604597T>A	(Likely) benign	4 labs	452773c2ef
2:179569387 TTN T>A	2	179569387	179569387	T	A	TTN	c.29812A>T	NM_001267550.2	NP_001254479.2:p.(Thr9938Ser)	NC_000002.11:g.179569387T>A	(Likely) benign	5 labs	456181bd16
19:7152775 INSR C>T	19	7152775	7152775	C	T	INSR	c.2193G>A	NM_000208.4	NP_000199.2:p.(Thr731=)	NC_000019.9:g.7152775C>T	(Likely) benign	2 labs	459f97d5a4
20:62309640 RTEL1 G>A	20	62309640	62309640	G	A	RTEL1	c.978G>A	NM_001283009.2	NP_001269938.1:p.(Glu326=)	NC_000020.10:g.62309640G>A	(Likely) benign	2 labs	45f57f14dd
18:59828420 PIGN G>A	18	59828420	59828420	G	A	PIGN	c.167C>T	NM_176787.5	NP_789744.1:p.(Ala56Val)	NC_000018.9:g.59828420G>A	(Likely) benign	2 labs	462b63b29b
X:153005536 ABCD1 GC>G	X	153005536	153005540	GC	G	ABCD1	c.1489-6del	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153005540del	(Likely) benign	4 labs	466ee787c0
X:76856021 ATRX T>C	X	76856021	76856021	T	C	ATRX	c.5579A>G	NM_000489.6	NP_000480.3:p.(Asn1860Ser)	NC_000023.10:g.76856021T>C	(Likely) benign	5 labs	4685d9e755
5:179263565 SQSTM1 A>G	5	179263565	179263565	A	G	SQSTM1	c.1295A>G	NM_003900.5	NP_003891.1:p.(Gln432Arg)	NC_000005.9:g.179263565A>G	VUS	2 labs	46ddf48250
10:124266187 HTRA1 G>A	10	124266187	124266187	G	A	HTRA1	c.778-20G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124266187G>A	(Likely) benign	2 labs	4707464f1f
11:108098576 ATM C>G	11	108098576	108098576	C	G	ATM	c.146C>G	NM_000051.4	NP_000042.3:p.(Ser49Cys)	NC_000011.9:g.108098576C>G	(Likely) benign	5 labs	473754178e
3:48508966 TREX1 G>A	3	48508966	48508966	G	A	TREX1	c.912G>A	NM_033629.6	NP_338599.1:p.(Leu304=)	NC_000003.11:g.48508966G>A	(Likely) benign	3 labs	475be356c6
2:179432004 TTN A>G	2	179432004	179432004	A	G	TTN	c.78855T>C	NM_001267550.2	NP_001254479.2:p.(Asp26285=)	NC_000002.11:g.179432004A>G	(Likely) benign	6 labs	4775f83722
7:140434574 BRAF C>CA	7	140434574	140434585	C	CA	BRAF	c.2128-5dup	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434585dup	(Likely) benign	4 labs	477e2b60cb
2:179605380 TTN T>A	2	179605380	179605380	T	A	TTN	c.12580A>T	NM_001267550.2	NP_001254479.2:p.(Ile4194Phe)	NC_000002.11:g.179605380T>A	(Likely) benign	6 labs	47a5d9f6ae
16:3779115 CREBBP T>C	16	3779115	3779115	T	C	CREBBP	c.5933A>G	NM_004380.3	NP_004371.2:p.(Asn1978Ser)	NC_000016.9:g.3779115T>C	(Likely) benign	4 labs	47ae05fede
6:129837320 LAMA2 C>A	6	129837320	129837320	C	A	LAMA2	c.9212-15C>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129837320C>A	(Likely) benign	4 labs	48233eefed
17:42991449 GFAP C>T	17	42991449	42991449	C	T	GFAP	c.469G>A	NM_002055.5	NP_002046.1:p.(Asp157Asn)	NC_000017.10:g.42991449C>T	(Likely) benign	2 labs	49085bf743
14:23889429 MYH7 C>T	14	23889429	23889429	C	T	MYH7	c.3351G>A	NM_000257.4	NP_000248.2:p.(Glu1117=)	NC_000014.8:g.23889429C>T	(Likely) benign	6 labs	4838620255
1:201022411 CACNA1S C>T	1	201022411	201022411	C	T	CACNA1S	c.3796-9G>A	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201022411C>T	(Likely) benign	3 labs	48534d63ce
6:129826335 LAMA2 T>C	6	129826335	129826335	T	C	LAMA2	c.8548-10T>C	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129826335T>C	(Likely) benign	3 labs	4862650dc3
17:41249263 BRCA1 G>A	17	41249263	41249263	G	A	BRCA1	c.591C>T	NM_007294.4	NP_009225.1:p.(Cys197=)	NC_000017.10:g.41249263G>A	(Likely) benign	7 labs	48635319e8
6:129670476 LAMA2 C>T	6	129670476	129670476	C	T	LAMA2	c.4470C>T	NM_000426.4	NP_000417.3:p.(Asp1490=)	NC_000006.11:g.129670476C>T	(Likely) benign	2 labs	486ce20e80
8:118831981 EXT1 CA>C	8	118831981	118831982	CA	C	EXT1	c.1469del	NM_000127.3	NP_000118.2:p.(Leu490ArgfsTer9)	NC_000008.10:g.118831982del	(Likely) pathogenic	3 labs	486f00bc3f
2:149259994 MBD5 C>T	2	149259994	149259994	C	T	MBD5	c.4264-11C>T	NM_018328.5	NP_060798.2:p.?	NC_000002.11:g.149259994C>T	(Likely) benign	3 labs	489c3c5c4a
2:179581971 TTN C>T	2	179581971	179581971	C	T	TTN	c.25490G>A	NM_001267550.2	NP_001254479.2:p.(Arg8497His)	NC_000002.11:g.179581971C>T	(Likely) benign	5 labs	48a205f50d
14:45645715 FANCM A>G	14	45645715	45645715	A	G	FANCM	c.3758A>G	NM_020937.4	NP_065988.1:p.(Asn1253Ser)	NC_000014.8:g.45645715A>G	(Likely) benign	2 labs	48db5a8413
1:10042538 NMNAT1 C>T	1	10042538	10042538	C	T	NMNAT1	c.619C>T	NM_022787.3	NP_073624.2:p.(Arg207Trp)	NC_000001.10:g.10042538C>T	(Likely) pathogenic	2 labs	48e15872e4
11:22249100 ANO5 A>G	11	22249100	22249100	A	G	ANO5	c.616A>G	NM_213599.3	NP_998764.1:p.(Thr206Ala)	NC_000011.9:g.22249100A>G	(Likely) benign	2 labs	48fcdc7aff
6:51913356 PKHD1 G>A	6	51913356	51913356	G	A	PKHD1	c.2341C>T	NM_138694.4	NP_619639.3:p.(Arg781Ter)	NC_000006.11:g.51913356G>A	(Likely) pathogenic	4 labs	490afbf5ce
7:128482835 FLNC C>T	7	128482835	128482835	C	T	FLNC	c.2390-13C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482835C>T	(Likely) benign	3 labs	491b7e52a8
11:68705820 IGHMBP2 G>A	11	68705820	68705820	G	A	IGHMBP2	c.2782G>A	NM_002180.3	NP_002171.2:p.(Glu928Lys)	NC_000011.9:g.68705820G>A	(Likely) benign	2 labs	4957263de0
3:15495386 COLQ G>A	3	15495386	15495386	G	A	COLQ	c.1248C>T	NM_005677.4	NP_005668.2:p.(Asp416=)	NC_000003.11:g.15495386G>A	(Likely) benign	2 labs	495f30ac5c
1:5940243 NPHP4 G>A	1	5940243	5940243	G	A	NPHP4	c.2542C>T	NM_015102.5	NP_055917.1:p.(Arg848Trp)	NC_000001.10:g.5940243G>A	(Likely) benign	4 labs	495f424b24
16:15811209 MYH11 G>A	16	15811209	15811209	G	A	MYH11	c.5296-4C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15811209G>A	(Likely) benign	4 labs	496078c22d
3:10105516 FANCD2 A>C	3	10105516	10105516	A	C	FANCD2	c.1868A>C	NM_001018115.3	NP_001018125.1:p.(Gln623Pro)	NC_000003.11:g.10105516A>C	(Likely) benign	2 labs	49777d7486
13:28239999 POLR1D A>G	13	28239999	28239999	A	G	POLR1D	c.194A>G	NM_001206559.1	NP_001193488.1:p.(His65Arg)	NC_000013.10:g.28239999A>G	(Likely) benign	2 labs	49e6f1063e
2:47635667 MSH2 G>A	2	47635667	47635667	G	A	MSH2	c.339G>A	NM_000251.3	NP_000242.1:p.(Lys113=)	NC_000002.11:g.47635667G>A	(Likely) benign	7 labs	49ff7c402c
4:1807166 FGFR3 C>T	4	1807166	1807166	C	T	FGFR3	c.1497C>T	NM_000142.5	NP_000133.1:p.(Ala499=)	NC_000004.11:g.1807166C>T	(Likely) benign	2 labs	4a0bc29c48
2:179528397 TTN C>T	2	179528397	179528397	C	T	TTN	c.36489G>A	NM_001267550.2	NP_001254479.2:p.(Ala12163=)	NC_000002.11:g.179528397C>T	(Likely) benign	5 labs	4a27e8d103
16:2153369 PKD1 C>T	16	2153369	2153369	C	T	PKD1	c.8689G>A	NM_001009944.3	NP_001009944.3:p.(Val2897Ile)	NC_000016.9:g.2153369C>T	(Likely) benign	3 labs	4a592c5e6c
5:155935708 SGCD G>A	5	155935708	155935708	G	A	SGCD	c.290G>A	NM_000337.6	NP_000328.2:p.(Arg97Gln)	NC_000005.9:g.155935708G>A	(Likely) benign	4 labs	4a7b42357f
2:152354239 NEB G>A	2	152354239	152354239	G	A	NEB	c.24208-7C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152354239G>A	(Likely) benign	2 labs	4a9c5c52e8
19:38976294 RYR1 C>T	19	38976294	38976294	C	T	RYR1	c.4999C>T	NM_000540.3	NP_000531.2:p.(Arg1667Cys)	NC_000019.9:g.38976294C>T	(Likely) benign	2 labs	4ac1b5dd12
2:219674300 CYP27A1 G>A	2	219674300	219674300	G	A	CYP27A1	c.256G>A	NM_000784.4	NP_000775.1:p.(Val86Met)	NC_000002.11:g.219674300G>A	(Likely) benign	2 labs	4ad59aeb43
16:89595988 SPG7 G>GT	16	89595988	89595989	G	GT	SPG7	c.861+2dup	NM_003119.2	NP_003110.1:p.?	NC_000016.9:g.89595989dup	(Likely) pathogenic	3 labs	4ae2958538
2:73677808 ALMS1 C>G	2	73677808	73677808	C	G	ALMS1	c.4154C>G	NM_001378454.1	NP_001365383.1:p.(Thr1385Arg)	NC_000002.11:g.73677808C>G	(Likely) benign	3 labs	4b00fc7cc1
20:61453149 COL9A3 T>C	20	61453149	61453149	T	C	COL9A3	c.410T>C	NM_001853.4	NP_001844.3:p.(Leu137Pro)	NC_000020.10:g.61453149T>C	(Likely) benign	3 labs	4b1eedf81d
2:220078564 ABCB6 G>C	2	220078564	220078564	G	C	ABCB6	c.1562C>G	NM_005689.4	NP_005680.1:p.(Thr521Ser)	NC_000002.11:g.220078564G>C	(Likely) benign	4 labs	4b3445e8bb
16:89347441 ANKRD11 G>A	16	89347441	89347441	G	A	ANKRD11	c.5509C>T	NM_013275.6	NP_037407.4:p.(Pro1837Ser)	NC_000016.9:g.89347441G>A	(Likely) benign	3 labs	4b52c34038
10:88466384 LDB3 G>A	10	88466384	88466384	G	A	LDB3	c.993G>A	NM_007078.3	NP_009009.1:p.(Ala331=)	NC_000010.10:g.88466384G>A	(Likely) benign	6 labs	4b62ced65b
16:2167970 PKD1 G>A	16	2167970	2167970	G	A	PKD1	c.1023C>T	NM_001009944.3	NP_001009944.3:p.(Ala341=)	NC_000016.9:g.2167970G>A	(Likely) benign	3 labs	4b6a3c6ae2
5:1279505 TERT G>A	5	1279505	1279505	G	A	TERT	c.2031C>T	NM_198253.3	NP_937983.2:p.(Gly677=)	NC_000005.9:g.1279505G>A	(Likely) benign	3 labs	4b7be0a0f0
11:111781047 CRYAB A>C	11	111781047	111781047	A	C	CRYAB	c.324+4T>G	NM_001885.3	NP_001876.1:p.?	NC_000011.9:g.111781047A>C	(Likely) benign	4 labs	4b8ef1d49e
12:133235926 POLE C>T	12	133235926	133235926	C	T	POLE	c.3230G>A	NM_006231.4	NP_006222.2:p.(Arg1077His)	NC_000012.11:g.133235926C>T	VUS	2 labs	4baa8f1fbe
1:235594073 TBCE T>C	1	235594073	235594073	T	C	TBCE	c.614T>C	NM_003193.5	NP_003184.1:p.(Val205Ala)	NC_000001.10:g.235594073T>C	(Likely) benign	3 labs	4bc96af8d3
X:130412018 IGSF1 C>G	X	130412018	130412018	C	G	IGSF1	c.2132G>C	NM_001555.5	NP_001546.2:p.(Gly711Ala)	NC_000023.10:g.130412018C>G	(Likely) benign	3 labs	4bddffb18d
6:116446506 COL10A1 A>T	6	116446506	116446506	A	T	COL10A1	c.150T>A	NM_000493.4	NP_000484.2:p.(Ser50Arg)	NC_000006.11:g.116446506A>T	(Likely) benign	2 labs	4bea09adaf
21:47423576 COL6A1 C>T	21	47423576	47423576	C	T	COL6A1	c.2736C>T	NM_001848.3	NP_001839.2:p.(Asp912=)	NC_000021.8:g.47423576C>T	(Likely) benign	3 labs	4bf2933c4c
17:59821830 BRIP1 C>A	17	59821830	59821830	C	A	BRIP1	c.2220G>T	NM_032043.3	NP_114432.2:p.(Gln740His)	NC_000017.10:g.59821830C>A	(Likely) benign	6 labs	4c0d34595c
10:27349268 ANKRD26 A>G	10	27349268	27349268	A	G	ANKRD26	c.1564+6T>C	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27349268A>G	(Likely) benign	2 labs	4c0f8f68d0
12:2791205 CACNA1C A>G	12	2791205	2791205	A	G	CACNA1C	c.5678=	NM_199460.4	NP_955630.3:p.(Arg1893=)	NC_000012.11:g.2791205A>G	(Likely) benign	2 labs	4c11ad9d1f
6:152469204 SYNE1 G>A	6	152469204	152469204	G	A	SYNE1	c.24952C>T	NM_182961.4	NP_892006.3:p.(Leu8318Phe)	NC_000006.11:g.152469204G>A	(Likely) benign	4 labs	4c350754c6
11:108150316 ATM A>G	11	108150316	108150316	A	G	ATM	c.3383A>G	NM_000051.4	NP_000042.3:p.(Gln1128Arg)	NC_000011.9:g.108150316A>G	(Likely) benign	5 labs	4c72bc8350
17:33446670 RAD51D C>A	17	33446670	33446670	C	A	RAD51D	c.-38G>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33446670C>A	(Likely) benign	4 labs	4c9d150b74
2:179414705 TTN A>T	2	179414705	179414705	A	T	TTN	c.91852+8T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179414705A>T	(Likely) benign	3 labs	4cad34db40
10:89474778 PAPSS2 G>A	10	89474778	89474778	G	A	PAPSS2	c.676G>A	NM_001015880.2	NP_001015880.1:p.(Glu226Lys)	NC_000010.10:g.89474778G>A	VUS	2 labs	4cd982d825
2:158637039 ACVR1 G>C	2	158637039	158637039	G	C	ACVR1	c.141C>G	NM_001111067.4	NP_001104537.1:p.(His47Gln)	NC_000002.11:g.158637039G>C	(Likely) benign	2 labs	4d055eed53
12:88519133 CEP290 C>T	12	88519133	88519133	C	T	CEP290	c.1079G>A	NM_025114.4	NP_079390.3:p.(Arg360Gln)	NC_000012.11:g.88519133C>T	(Likely) benign	5 labs	4d5f230176
8:145742799 RECQL4 T>C	8	145742799	145742799	T	C	RECQL4	c.212A>G	NM_004260.4	NP_004251.4:p.(Glu71Gly)	NC_000008.10:g.145742799T>C	(Likely) benign	2 labs	4d60c98158
2:219677004 CYP27A1 C>T	2	219677004	219677004	C	T	CYP27A1	c.506C>T	NM_000784.4	NP_000775.1:p.(Ala169Val)	NC_000002.11:g.219677004C>T	(Likely) benign	3 labs	4d76589b8f
2:71801334 DYSF C>CAGGCGG	2	71801334	71801349	C	CAGGCGG	DYSF	c.3245_3250dup	NM_001130987.2	NP_001124459.1:p.(Ala1082_Glu1083dup)	NC_000002.11:g.71801344_71801349dup	(Likely) benign	3 labs	4d9d8fa4cf
10:27324372 ANKRD26 C>T	10	27324372	27324372	C	T	ANKRD26	c.3007G>A	NM_014915.3	NP_055730.2:p.(Glu1003Lys)	NC_000010.10:g.27324372C>T	(Likely) benign	2 labs	4d9fdb6947
2:238243375 COL6A3 C>T	2	238243375	238243375	C	T	COL6A3	c.9123G>A	NM_004369.4	NP_004360.2:p.(Thr3041=)	NC_000002.11:g.238243375C>T	(Likely) benign	4 labs	4dd53c0e8b
19:11123738 SMARCA4 C>T	19	11123738	11123738	C	T	SMARCA4	c.2388C>T	NM_003072.5	NP_003063.2:p.(Leu796=)	NC_000019.9:g.11123738C>T	(Likely) benign	3 labs	4dd99566dd
19:12774196 MAN2B1 G>A	19	12774196	12774196	G	A	MAN2B1	c.844C>T	NM_000528.4	NP_000519.2:p.(Pro282Ser)	NC_000019.9:g.12774196G>A	(Likely) benign	4 labs	4dfb52dbd5
4:55593481 KIT A>G	4	55593481	55593481	A	G	KIT	c.1638A>G	NM_000222.3	NP_000213.1:p.(Lys546=)	NC_000004.11:g.55593481A>G	(Likely) benign	2 labs	4e02a0c34c
7:157159176 DNAJB6 A>G	7	157159176	157159176	A	G	DNAJB6	c.176-20A>G	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157159176A>G	(Likely) benign	2 labs	4e4c42a5cc
11:47360181 MYBPC3 C>T	11	47360181	47360181	C	T	MYBPC3	c.2198G>A	NM_000256.3	NP_000247.2:p.(Arg733His)	NC_000011.9:g.47360181C>T	VUS	3 labs	4e61a2b4de
2:71791332 DYSF A>G	2	71791332	71791332	A	G	DYSF	c.2554A>G	NM_001130987.2	NP_001124459.1:p.(Ile852Val)	NC_000002.11:g.71791332A>G	(Likely) benign	2 labs	4e6eaa6efb
11:108158375 ATM T>C	11	108158375	108158375	T	C	ATM	c.4042T>C	NM_000051.4	NP_000042.3:p.(Leu1348=)	NC_000011.9:g.108158375T>C	(Likely) benign	6 labs	4e762c8f4c
10:124221505 HTRA1 G>T	10	124221505	124221505	G	T	HTRA1	c.337G>T	NM_002775.5	NP_002766.1:p.(Ala113Ser)	NC_000010.10:g.124221505G>T	(Likely) benign	2 labs	4e7923dde5
17:78084507 GAA G>C	17	78084507	78084507	G	C	GAA	c.1438-19G>C	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78084507G>C	(Likely) benign	3 labs	4ea56d6236
19:13318672 CACNA1A CCTGCTGCTGCTGCTGCTG>C	19	13318672	13318712	CCTGCTGCTGCTGCTGCTG	C	CACNA1A	c.6958_6975del	NM_001127222.2	NP_001120694.1:p.(Gln2320_Gln2325del)	NC_000019.9:g.13318695_13318712del	(Likely) benign	5 labs	4eaa387223
2:179448450 TTN G>A	2	179448450	179448450	G	A	TTN	c.65459C>T	NM_001267550.2	NP_001254479.2:p.(Thr21820Ile)	NC_000002.11:g.179448450G>A	(Likely) benign	4 labs	4eafc22896
19:17953950 JAK3 G>C	19	17953950	17953950	G	C	JAK3	c.452C>G	NM_000215.4	NP_000206.2:p.(Pro151Arg)	NC_000019.9:g.17953950G>C	(Likely) benign	3 labs	4ec16d4ee2
16:88902643 GALNS G>A	16	88902643	88902643	G	A	GALNS	c.599C>T	NM_000512.5	NP_000503.1:p.(Thr200Met)	NC_000016.9:g.88902643G>A	(Likely) benign	2 labs	4f20546097
12:133220418 POLE G>A	12	133220418	133220418	G	A	POLE	c.4290+5C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133220418G>A	(Likely) benign	3 labs	4f2c82b4f9
19:18280080 PIK3R2 C>T	19	18280080	18280080	C	T	PIK3R2	c.2163C>T	NM_005027.4	NP_005018.2:p.(Pro721=)	NC_000019.9:g.18280080C>T	(Likely) benign	2 labs	4f57a6040f
19:11685989 ACP5 G>A	19	11685989	11685989	G	A	ACP5	c.814C>T	NM_001611.5	NP_001602.1:p.(Arg272Cys)	NC_000019.9:g.11685989G>A	(Likely) benign	3 labs	4f65edba7a
6:42689649 PRPH2 G>A	6	42689649	42689649	G	A	PRPH2	c.424C>T	NM_000322.5	NP_000313.2:p.(Arg142Trp)	NC_000006.11:g.42689649G>A	(Likely) pathogenic	3 labs	4f96e37656
12:124229303 ATP6V0A2 G>A	12	124229303	124229303	G	A	ATP6V0A2	c.1486G>A	NM_012463.4	NP_036595.2:p.(Ala496Thr)	NC_000012.11:g.124229303G>A	(Likely) benign	2 labs	4fd2fdb7c1
19:11170576 SMARCA4 G>C	19	11170576	11170576	G	C	SMARCA4	c.4768+15G>C	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11170576G>C	(Likely) benign	2 labs	4fdd1571ab
2:179547455 TTN T>C	2	179547455	179547455	T	C	TTN	c.33063A>G	NM_001267550.2	NP_001254479.2:p.(Glu11021=)	NC_000002.11:g.179547455T>C	(Likely) benign	5 labs	4fe26baeca
7:33392479 BBS9 C>A	7	33392479	33392479	C	A	BBS9	c.1546C>A	NM_198428.3	NP_940820.1:p.(Pro516Thr)	NC_000007.13:g.33392479C>A	(Likely) benign	3 labs	4ff8764a4b
9:35075969 FANCG G>A	9	35075969	35075969	G	A	FANCG	c.1133C>T	NM_004629.2	NP_004620.1:p.(Ser378Leu)	NC_000009.11:g.35075969G>A	(Likely) benign	2 labs	501e36e31c
4:1806040 FGFR3 C>T	4	1806040	1806040	C	T	FGFR3	c.1076-17C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1806040C>T	(Likely) benign	4 labs	5039c6b906
2:232952256 DIS3L2 C>T	2	232952256	232952256	C	T	DIS3L2	c.426C>T	NM_152383.5	NP_689596.4:p.(Pro142=)	NC_000002.11:g.232952256C>T	(Likely) benign	2 labs	503c9e041a
2:238283679 COL6A3 C>T	2	238283679	238283679	C	T	COL6A3	c.3071-16G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238283679C>T	(Likely) benign	3 labs	503ed8c1d8
2:179455731 TTN C>G	2	179455731	179455731	C	G	TTN	c.60721G>C	NM_001267550.2	NP_001254479.2:p.(Glu20241Gln)	NC_000002.11:g.179455731C>G	(Likely) benign	6 labs	505f118ba4
19:50919742 POLD1 C>T	19	50919742	50919742	C	T	POLD1	c.2910C>T	NM_002691.4	NP_002682.2:p.(Phe970=)	NC_000019.9:g.50919742C>T	(Likely) benign	2 labs	5060265155
2:179399614 TTN C>T	2	179399614	179399614	C	T	TTN	c.101728G>A	NM_001267550.2	NP_001254479.2:p.(Glu33910Lys)	NC_000002.11:g.179399614C>T	VUS	4 labs	50759bb660
15:89417149 ACAN C>T	15	89417149	89417149	C	T	ACAN	c.7524C>T	NM_001369268.1	NP_001356197.1:p.(Ser2508=)	NC_000015.9:g.89417149C>T	(Likely) benign	2 labs	507fa3c03c
9:21974794 CDKN2A A>AGGCTCCATGCTGCTCCCCGCCGCC	9	21974794	21974842	A	AGGCTCCATGCTGCTCCCCGCCGCC	CDKN2A	c.9_32dup	NM_000077.5	NP_000068.1:p.(Ala4_Pro11dup)	NC_000009.11:g.21974819_21974842dup	(Likely) pathogenic	3 labs	5087e13592
9:130605472 ENG G>A	9	130605472	130605472	G	A	ENG	c.120C>T	NM_001114753.3	NP_001108225.1:p.(Gly40=)	NC_000009.11:g.130605472G>A	(Likely) benign	5 labs	50a94da5cc
1:2234791 SKI C>T	1	2234791	2234791	C	T	SKI	c.1163C>T	NM_003036.4	NP_003027.1:p.(Ala388Val)	NC_000001.10:g.2234791C>T	(Likely) benign	4 labs	510497d271
17:33428040 RAD51D C>T	17	33428040	33428040	C	T	RAD51D	c.919G>A	NM_002878.4	NP_002869.3:p.(Glu307Lys)	NC_000017.10:g.33428040C>T	(Likely) benign	3 labs	518437864a
9:139391338 NOTCH1 C>T	9	139391338	139391338	C	T	NOTCH1	c.6853G>A	NM_017617.5	NP_060087.3:p.(Val2285Ile)	NC_000009.11:g.139391338C>T	(Likely) benign	4 labs	518c9f2345
10:88446830 LDB3 G>A	10	88446830	88446830	G	A	LDB3	c.690-4823G>A	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88446830G>A	(Likely) benign	6 labs	519ee0471a
17:63533624 AXIN2 C>T	17	63533624	63533624	C	T	AXIN2	c.1530G>A	NM_004655.4	NP_004646.3:p.(Thr510=)	NC_000017.10:g.63533624C>T	(Likely) benign	5 labs	51d49c813a
13:32893321 BRCA2 C>G	13	32893321	32893321	C	G	BRCA2	c.175C>G	NM_000059.4	NP_000050.3:p.(Pro59Ala)	NC_000013.10:g.32893321C>G	(Likely) benign	4 labs	520b524023
12:52162823 SCN8A C>T	12	52162823	52162823	C	T	SCN8A	c.3076C>T	NM_001330260.2	NP_001317189.1:p.(Arg1026Cys)	NC_000012.11:g.52162823C>T	(Likely) benign	3 labs	5268edb60a
16:23634273 PALB2 A>G	16	23634273	23634273	A	G	PALB2	c.2996+17T>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23634273A>G	(Likely) benign	6 labs	5269661598
5:112179112 APC C>T	5	112179112	112179112	C	T	APC	c.7821C>T	NM_000038.6	NP_000029.2:p.(Ser2607=)	NC_000005.9:g.112179112C>T	(Likely) benign	2 labs	526dc356b8
12:112919869 PTPN11 C>A	12	112919869	112919869	C	A	PTPN11	c.1093-9C>A	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112919869C>A	(Likely) benign	3 labs	5282d63389
3:58145348 FLNB T>C	3	58145348	58145348	T	C	FLNB	c.6956T>C	NM_001457.4	NP_001448.2:p.(Ile2319Thr)	NC_000003.11:g.58145348T>C	(Likely) benign	3 labs	5296781737
16:78458915 WWOX C>G	16	78458915	78458915	C	G	WWOX	c.754C>G	NM_016373.4	NP_057457.1:p.(Pro252Ala)	NC_000016.9:g.78458915C>G	(Likely) benign	2 labs	52d207e4cb
18:67863850 RTTN T>TCTC	18	67863850	67863854	T	TCTC	RTTN	c.725_727dup	NM_173630.4	NP_775901.3:p.(Gly242dup)	NC_000018.9:g.67863852_67863854dup	(Likely) benign	2 labs	52dbb40b25
9:135946723 CEL G>C	9	135946723	135946723	G	C	CEL	c.1834G>C	NM_001807.6	NP_001798.3:p.(Ala612Pro)	NC_000009.11:g.135946723G>C	(Likely) benign	3 labs	531165298d
16:68713815 CDH3 A>C	16	68713815	68713815	A	C	CDH3	c.805A>C	NM_001793.6	NP_001784.2:p.(Met269Leu)	NC_000016.9:g.68713815A>C	(Likely) benign	3 labs	538d091ece
X:591695 SHOX C>T	X	591695	591695	C	T	SHOX	c.63C>T	NM_000451.3	NP_000442.1:p.(Gly21=)	NC_000023.10:g.591695C>T	(Likely) benign	3 labs	538f5ffa77
2:71827820 DYSF C>T	2	71827820	71827820	C	T	DYSF	c.3757-12C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71827820C>T	(Likely) benign	3 labs	53aae44d23
14:75509146 MLH3 G>T	14	75509146	75509146	G	T	MLH3	c.3315C>A	NM_001040108.2	NP_001035197.1:p.(Asp1105Glu)	NC_000014.8:g.75509146G>T	(Likely) benign	5 labs	53fe3a32c7
7:73480332 ELN G>C	7	73480332	73480332	G	C	ELN	c.2086+5G>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73480332G>C	(Likely) benign	2 labs	54067e917e
9:135946999 CEL A>C	9	135946999	135946999	A	C	CEL	c.2110A>C	NM_001807.6	NP_001798.3:p.(Thr704Pro)	NC_000009.11:g.135946999A>C	(Likely) benign	2 labs	540bb4bd9c
14:64484335 SYNE2 A>G	14	64484335	64484335	A	G	SYNE2	c.4910A>G	NM_182914.3	NP_878918.2:p.(Tyr1637Cys)	NC_000014.8:g.64484335A>G	(Likely) benign	2 labs	540bb8926b
20:43042354 HNF4A C>T	20	43042354	43042354	C	T	HNF4A	c.406C>T	NM_000457.5	NP_000448.3:p.(Arg136Trp)	NC_000020.10:g.43042354C>T	(Likely) pathogenic	2 labs	542de25516
12:48389709 COL2A1 C>T	12	48389709	48389709	C	T	COL2A1	c.610-7G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389709C>T	(Likely) benign	3 labs	54710d4c09
X:31165400 DMD G>A	X	31165400	31165400	G	A	DMD	c.10789C>T	NM_004006.3	NP_003997.2:p.(Leu3597=)	NC_000023.10:g.31165400G>A	(Likely) benign	6 labs	54982a779e
2:179523514 TTN T>A	2	179523514	179523514	T	A	TTN	c.37461A>T	NM_001267550.2	NP_001254479.2:p.(Glu12487Asp)	NC_000002.11:g.179523514T>A	(Likely) benign	3 labs	549cf76ed0
16:2154537 PKD1 G>A	16	2154537	2154537	G	A	PKD1	c.8123C>T	NM_001009944.3	NP_001009944.3:p.(Thr2708Met)	NC_000016.9:g.2154537G>A	(Likely) benign	2 labs	54bd851eb5
7:92764419 SAMD9L A>G	7	92764419	92764419	A	G	SAMD9L	c.866T>C	NM_152703.5	NP_689916.2:p.(Phe289Ser)	NC_000007.13:g.92764419A>G	(Likely) benign	2 labs	54bf469aa9
2:179537200 TTN C>T	2	179537200	179537200	C	T	TTN	c.34864G>A	NM_001267550.2	NP_001254479.2:p.(Val11622Ile)	NC_000002.11:g.179537200C>T	(Likely) benign	4 labs	5517d1c0b9
2:179399539 TTN T>C	2	179399539	179399539	T	C	TTN	c.101803A>G	NM_001267550.2	NP_001254479.2:p.(Ile33935Val)	NC_000002.11:g.179399539T>C	(Likely) benign	5 labs	55644839ac
5:112043492 APC C>A	5	112043492	112043492	C	A	APC	c.78C>A	NM_001127511.2	NP_001120983.2:p.(Ser26Arg)	NC_000005.9:g.112043492C>A	(Likely) benign	2 labs	556591bd36
17:40478138 STAT3 A>G	17	40478138	40478138	A	G	STAT3	c.1361T>C	NM_139276.3	NP_644805.1:p.(Leu454Pro)	NC_000017.10:g.40478138A>G	VUS	3 labs	5569fcb549
11:47359280 MYBPC3 A>AC	11	47359280	47359281	A	AC	MYBPC3	c.2373dup	NM_000256.3	NP_000247.2:p.(Trp792ValfsTer41)	NC_000011.9:g.47359281dup	(Likely) pathogenic	6 labs	55be01332c
9:134390870 POMT1 C>A	9	134390870	134390870	C	A	POMT1	c.1233C>A	NM_001077365.2	NP_001070833.1:p.(Asp411Glu)	NC_000009.11:g.134390870C>A	(Likely) benign	5 labs	55c41c34a9
1:160100264 ATP1A2 C>T	1	160100264	160100264	C	T	ATP1A2	c.1704C>T	NM_000702.4	NP_000693.1:p.(Phe568=)	NC_000001.10:g.160100264C>T	(Likely) benign	3 labs	55dbe072f6
16:23634293 PALB2 C>T	16	23634293	23634293	C	T	PALB2	c.2993G>A	NM_024675.4	NP_078951.2:p.(Gly998Glu)	NC_000016.9:g.23634293C>T	(Likely) benign	5 labs	55ff05badd
7:128498520 FLNC T>C	7	128498520	128498520	T	C	FLNC	c.8121T>C	NM_001458.5	NP_001449.3:p.(Ile2707=)	NC_000007.13:g.128498520T>C	(Likely) benign	3 labs	5653bb4bc0
3:178917488 PIK3CA C>T	3	178917488	178917488	C	T	PIK3CA	c.363C>T	NM_006218.4	NP_006209.2:p.(Ile121=)	NC_000003.11:g.178917488C>T	(Likely) benign	3 labs	565ff43ead
16:1569961 IFT140 TCTTGGC>T	16	1569961	1569980	TCTTGGC	T	IFT140	c.3955_3960del	NM_014714.4	NP_055529.2:p.(Ala1319_Lys1320del)	NC_000016.9:g.1569975_1569980del	VUS	3 labs	569c0bca83
10:97453433 TCTN3 G>A	10	97453433	97453433	G	A	TCTN3	c.224C>T	NM_015631.6	NP_056446.4:p.(Ala75Val)	NC_000010.10:g.97453433G>A	(Likely) benign	2 labs	56a5b60cce
2:179412452 TTN C>T	2	179412452	179412452	C	T	TTN	c.93901G>A	NM_001267550.2	NP_001254479.2:p.(Val31301Ile)	NC_000002.11:g.179412452C>T	(Likely) benign	4 labs	56aebb5f8f
17:57158552 TRIM37 G>A	17	57158552	57158552	G	A	TRIM37	c.398C>T	NM_015294.6	NP_056109.1:p.(Ala133Val)	NC_000017.10:g.57158552G>A	(Likely) benign	2 labs	56d825d283
X:53227064 KDM5C A>AAGT	X	53227064	53227068	A	AAGT	KDM5C	c.2517-9_2517-7dup	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53227066_53227068dup	(Likely) benign	3 labs	56e7ed70a4
12:5155046 KCNA5 G>A	12	5155046	5155046	G	A	KCNA5	c.1733G>A	NM_002234.4	NP_002225.2:p.(Arg578Lys)	NC_000012.11:g.5155046G>A	(Likely) benign	3 labs	570d397e53
11:66294224 BBS1 C>T	11	66294224	66294224	C	T	BBS1	c.1285C>T	NM_024649.4	NP_078925.3:p.(Arg429Ter)	NC_000011.9:g.66294224C>T	(Likely) pathogenic	3 labs	571590e7e7
16:68862107 CDH1 G>A	16	68862107	68862107	G	A	CDH1	c.2195G>A	NM_004360.5	NP_004351.1:p.(Arg732Gln)	NC_000016.9:g.68862107G>A	(Likely) pathogenic	2 labs	5721bbe4df
2:238249414 COL6A3 T>C	2	238249414	238249414	T	C	COL6A3	c.8145A>G	NM_004369.4	NP_004360.2:p.(Leu2715=)	NC_000002.11:g.238249414T>C	(Likely) benign	2 labs	57331f0408
X:154088813 F8 T>C	X	154088813	154088813	T	C	F8	c.6794A>G	NM_000132.4	NP_000123.1:p.(Gln2265Arg)	NC_000023.10:g.154088813T>C	(Likely) pathogenic	2 labs	5746a94eaa
13:111082900 COL4A2 C>T	13	111082900	111082900	C	T	COL4A2	c.594C>T	NM_001846.4	NP_001837.2:p.(Pro198=)	NC_000013.10:g.111082900C>T	(Likely) benign	2 labs	5774239e42
2:179472223 TTN A>G	2	179472223	179472223	A	G	TTN	c.53192T>C	NM_001267550.2	NP_001254479.2:p.(Ile17731Thr)	NC_000002.11:g.179472223A>G	(Likely) benign	6 labs	5774d67fa8
2:48027755 MSH6 T>C	2	48027755	48027755	T	C	MSH6	c.2633T>C	NM_000179.3	NP_000170.1:p.(Val878Ala)	NC_000002.11:g.48027755T>C	(Likely) benign	7 labs	5776c95017
16:2136842 TSC2 C>T	16	2136842	2136842	C	T	TSC2	c.4959C>T	NM_000548.5	NP_000539.2:p.(Ser1653=)	NC_000016.9:g.2136842C>T	(Likely) benign	3 labs	579143f152
16:75681699 TERF2IP G>T	16	75681699	75681699	G	T	TERF2IP	c.-82G>T	NM_018975.4	NP_061848.2:p.?	NC_000016.9:g.75681699G>T	(Likely) benign	2 labs	57a0bca2ed
5:127614491 FBN2 A>G	5	127614491	127614491	A	G	FBN2	c.7181T>C	NM_001999.4	NP_001990.2:p.(Ile2394Thr)	NC_000005.9:g.127614491A>G	(Likely) benign	4 labs	57a122a0c4
5:236734 SDHA G>C	5	236734	236734	G	C	SDHA	c.1432+20G>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.236734G>C	(Likely) benign	2 labs	57d36c56cf
5:127782297 FBN2 C>T	5	127782297	127782297	C	T	FBN2	c.829G>A	NM_001999.4	NP_001990.2:p.(Val277Ile)	NC_000005.9:g.127782297C>T	(Likely) benign	3 labs	57dafeff13
2:179588427 TTN T>C	2	179588427	179588427	T	C	TTN	c.21404-4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179588427T>C	(Likely) benign	5 labs	57e2415aec
2:48032740 MSH6 A>ATT	2	48032740	48032753	A	ATT	MSH6	c.3557-5_3557-4dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032752_48032753dup	(Likely) benign	2 labs	580683328d
3:37067120 MLH1 T>TA	3	37067120	37067122	T	TA	MLH1	c.1039-6dup	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067122dup	(Likely) benign	3 labs	583c19ea7f
2:179412966 TTN G>A	2	179412966	179412966	G	A	TTN	c.93387C>T	NM_001267550.2	NP_001254479.2:p.(Ser31129=)	NC_000002.11:g.179412966G>A	(Likely) benign	3 labs	58597bfa01
2:47641559 MSH2 TAAAAAA>T	2	47641559	47641586	TAAAAAA	T	MSH2	c.942+24_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641581_47641586del	(Likely) benign	4 labs	58a82032d4
8:144998621 PLEC G>A	8	144998621	144998621	G	A	PLEC	c.5476C>T	NM_201384.3	NP_958786.1:p.(Arg1826Trp)	NC_000008.10:g.144998621G>A	(Likely) benign	2 labs	58ed5ea090
19:18280044 PIK3R2 C>T	19	18280044	18280044	C	T	PIK3R2	c.2127C>T	NM_005027.4	NP_005018.2:p.(Thr709=)	NC_000019.9:g.18280044C>T	(Likely) benign	4 labs	590a4bad81
15:48902965 FBN1 G>A	15	48902965	48902965	G	A	FBN1	c.306C>T	NM_000138.5	NP_000129.3:p.(Cys102=)	NC_000015.9:g.48902965G>A	(Likely) benign	4 labs	5914581501
18:29175162 TTR G>C	18	29175162	29175162	G	C	TTR	c.280G>C	NM_000371.4	NP_000362.1:p.(Asp94His)	NC_000018.9:g.29175162G>C	VUS	5 labs	59146356e9
16:67692458 ACD CTGAGGAACTGGG>C	16	67692458	67692477	CTGAGGAACTGGG	C	ACD	c.817_828del	NM_001082486.2	NP_001075955.2:p.(Pro273_Ser276del)	NC_000016.9:g.67692466_67692477del	VUS	4 labs	5934f030db
11:76909569 MYO7A G>A	11	76909569	76909569	G	A	MYO7A	c.4471G>A	NM_000260.4	NP_000251.3:p.(Val1491Met)	NC_000011.9:g.76909569G>A	VUS	2 labs	5992bccf37
16:2185584 PKD1 G>T	16	2185584	2185584	G	T	PKD1	c.107C>A	NM_001009944.3	NP_001009944.3:p.(Pro36His)	NC_000016.9:g.2185584G>T	(Likely) benign	2 labs	599360c052
5:149456995 CSF1R C>A	5	149456995	149456995	C	A	CSF1R	c.733G>T	NM_001288705.3	NP_001275634.1:p.(Ala245Ser)	NC_000005.9:g.149456995C>A	(Likely) benign	2 labs	5a033fbee9
2:179413452 TTN G>A	2	179413452	179413452	G	A	TTN	c.92901C>T	NM_001267550.2	NP_001254479.2:p.(Ser30967=)	NC_000002.11:g.179413452G>A	(Likely) benign	4 labs	5a0e4e4c47
5:251445 SDHA G>A	5	251445	251445	G	A	SDHA	c.1664-8G>A	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.251445G>A	(Likely) benign	3 labs	5a2b75d1b9
13:32914839 BRCA2 A>G	13	32914839	32914839	A	G	BRCA2	c.6347A>G	NM_000059.4	NP_000050.3:p.(His2116Arg)	NC_000013.10:g.32914839A>G	(Likely) benign	6 labs	5a608e3840
16:2158570 PKD1 G>A	16	2158570	2158570	G	A	PKD1	c.6598C>T	NM_001009944.3	NP_001009944.3:p.(Arg2200Cys)	NC_000016.9:g.2158570G>A	(Likely) benign	2 labs	5a7c1d0f47
11:108168053 ATM A>G	11	108168053	108168053	A	G	ATM	c.4949A>G	NM_000051.4	NP_000042.3:p.(Asn1650Ser)	NC_000011.9:g.108168053A>G	(Likely) benign	6 labs	5ad056d8d5
16:89347318 ANKRD11 A>G	16	89347318	89347318	A	G	ANKRD11	c.5632T>C	NM_013275.6	NP_037407.4:p.(Ser1878Pro)	NC_000016.9:g.89347318A>G	(Likely) benign	2 labs	5b11878ff2
19:39025341 RYR1 T>G	19	39025341	39025341	T	G	RYR1	c.11260-19T>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39025341T>G	(Likely) benign	2 labs	5b47f4d316
13:32910403 BRCA2 T>C	13	32910403	32910403	T	C	BRCA2	c.1911T>C	NM_000059.4	NP_000050.3:p.(Gly637=)	NC_000013.10:g.32910403T>C	(Likely) benign	6 labs	5b4bb24fd5
14:95566101 DICER1 ACACACAC>A	14	95566101	95566108	ACACACAC	A	DICER1	c.4206+9_4206+15del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566102_95566108del	(Likely) benign	2 labs	5b8664d49f
16:30735348 SRCAP C>G	16	30735348	30735348	C	G	SRCAP	c.4603C>G	NM_006662.3	NP_006653.2:p.(Pro1535Ala)	NC_000016.9:g.30735348C>G	(Likely) benign	2 labs	5bafc1ef1d
2:179621503 TTN C>T	2	179621503	179621503	C	T	TTN	c.10700G>A	NM_001267550.2	NP_001254479.2:p.(Ser3567Asn)	NC_000002.11:g.179621503C>T	(Likely) benign	5 labs	5bc963c8aa
20:61451333 COL9A3 G>A	20	61451333	61451333	G	A	COL9A3	c.308G>A	NM_001853.4	NP_001844.3:p.(Arg103Gln)	NC_000020.10:g.61451333G>A	(Likely) benign	2 labs	5bd9d2980e
14:95566099 DICER1 AC>A	14	95566099	95566100	AC	A	DICER1	c.4206+17del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566100del	(Likely) benign	3 labs	5c0145ad2c
16:89985750 MC1R C>CA	16	89985750	89985752	C	CA	MC1R	c.86dup	NM_002386.4	NP_002377.4:p.(Asn29LysfsTer14)	NC_000016.9:g.89985752dup	VUS	2 labs	5c4f3db4da
3:10115043 FANCD2 C>T	3	10115043	10115043	C	T	FANCD2	c.2712C>T	NM_001018115.3	NP_001018125.1:p.(Asn904=)	NC_000003.11:g.10115043C>T	(Likely) benign	2 labs	5c61059f01
4:55129831 PDGFRA C>T	4	55129831	55129831	C	T	PDGFRA	c.368-3C>T	NM_006206.6	NP_006197.1:p.?	NC_000004.11:g.55129831C>T	(Likely) benign	2 labs	5c6194c717
2:166898785 SCN1A T>C	2	166898785	166898785	T	C	SCN1A	c.2176+17A>G	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166898785T>C	(Likely) benign	3 labs	5c62c44655
4:1803271 FGFR3 C>G	4	1803271	1803271	C	G	FGFR3	c.615+8C>G	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803271C>G	(Likely) benign	3 labs	5c91bd4883
10:43620335 RET C>T	10	43620335	43620335	C	T	RET	c.2944C>T	NM_020975.6	NP_066124.1:p.(Arg982Cys)	NC_000010.10:g.43620335C>T	(Likely) benign	5 labs	5ca4a9d946
13:110804812 COL4A1 C>T	13	110804812	110804812	C	T	COL4A1	c.4797G>A	NM_001845.6	NP_001836.3:p.(Ala1599=)	NC_000013.10:g.110804812C>T	(Likely) benign	2 labs	5ca5108e0f
16:51175655 SALL1 CGCTGCTGCT>C	16	51175655	51175685	CGCTGCTGCT	C	SALL1	c.469_477del	NM_002968.3	NP_002959.2:p.(Ser157_Ser159del)	NC_000016.9:g.51175677_51175685del	(Likely) benign	4 labs	5ced62dad6
2:179647684 TTN G>A	2	179647684	179647684	G	A	TTN	c.2949C>T	NM_001267550.2	NP_001254479.2:p.(Ile983=)	NC_000002.11:g.179647684G>A	(Likely) benign	5 labs	5d21577d58
X:77301954 ATP7A A>G	X	77301954	77301954	A	G	ATP7A	c.4390A>G	NM_000052.7	NP_000043.4:p.(Ile1464Val)	NC_000023.10:g.77301954A>G	(Likely) benign	3 labs	5d338b6026
3:128204877 GATA2 C>G	3	128204877	128204877	C	G	GATA2	c.564G>C	NM_032638.5	NP_116027.2:p.(Thr188=)	NC_000003.11:g.128204877C>G	(Likely) benign	3 labs	5d48a3a510
12:133218358 POLE G>A	12	133218358	133218358	G	A	POLE	c.5253C>T	NM_006231.4	NP_006222.2:p.(Ala1751=)	NC_000012.11:g.133218358G>A	(Likely) benign	2 labs	5d59bd0a98
2:219924867 IHH G>A	2	219924867	219924867	G	A	IHH	c.315+8C>T	NM_002181.4	NP_002172.2:p.?	NC_000002.11:g.219924867G>A	(Likely) benign	2 labs	5d84bd1cec
17:38240080 THRA C>T	17	38240080	38240080	C	T	THRA	c.223-8C>T	NM_199334.5	NP_955366.1:p.?	NC_000017.10:g.38240080C>T	(Likely) benign	2 labs	5d8a3ff345
3:37053487 MLH1 C>T	3	37053487	37053487	C	T	MLH1	c.589-15C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053487C>T	(Likely) benign	2 labs	5d96a47881
4:79188076 FRAS1 T>G	4	79188076	79188076	T	G	FRAS1	c.776T>G	NM_025074.7	NP_079350.5:p.(Leu259Arg)	NC_000004.11:g.79188076T>G	(Likely) benign	3 labs	5da284fe26
11:108138003 ATM T>C	11	108138003	108138003	T	C	ATM	c.2572T>C	NM_000051.4	NP_000042.3:p.(Phe858Leu)	NC_000011.9:g.108138003T>C	(Likely) benign	5 labs	5dc9c0b8c4
2:179642564 TTN T>C	2	179642564	179642564	T	C	TTN	c.4347A>G	NM_001267550.2	NP_001254479.2:p.(Ser1449=)	NC_000002.11:g.179642564T>C	(Likely) benign	4 labs	5dd1d4745c
5:171765882 SH3PXD2B C>T	5	171765882	171765882	C	T	SH3PXD2B	c.2227G>A	NM_001017995.3	NP_001017995.1:p.(Val743Met)	NC_000005.9:g.171765882C>T	(Likely) benign	2 labs	5dda08dec7
2:238277211 COL6A3 C>T	2	238277211	238277211	C	T	COL6A3	c.4895G>A	NM_004369.4	NP_004360.2:p.(Arg1632Gln)	NC_000002.11:g.238277211C>T	(Likely) benign	2 labs	5ddc0194c0
2:48026991 MSH6 C>T	2	48026991	48026991	C	T	MSH6	c.1869C>T	NM_000179.3	NP_000170.1:p.(Pro623=)	NC_000002.11:g.48026991C>T	(Likely) benign	2 labs	5de4609c5e
17:71193525 COG1 G>C	17	71193525	71193525	G	C	COG1	c.903G>C	NM_018714.3	NP_061184.1:p.(Gln301His)	NC_000017.10:g.71193525G>C	(Likely) benign	2 labs	5dfd1bcda4
3:184073551 CLCN2 C>T	3	184073551	184073551	C	T	CLCN2	c.1101G>A	NM_004366.6	NP_004357.3:p.(Pro367=)	NC_000003.11:g.184073551C>T	(Likely) benign	2 labs	5e253860ae
21:47859993 PCNT C>T	21	47859993	47859993	C	T	PCNT	c.9274-3C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47859993C>T	(Likely) benign	2 labs	5e36a2a5fc
16:2163298 PKD1 G>A	16	2163298	2163298	G	A	PKD1	c.2854-5C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2163298G>A	(Likely) benign	3 labs	5e38e4e7b8
1:103354135 COL11A1 G>C	1	103354135	103354135	G	C	COL11A1	c.4606C>G	NM_001854.4	NP_001845.3:p.(Pro1536Ala)	NC_000001.10:g.103354135G>C	(Likely) benign	5 labs	5e51b479f6
6:100897585 SIM1 G>A	6	100897585	100897585	G	A	SIM1	c.349-10C>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100897585G>A	(Likely) benign	2 labs	5eac3ce8c0
1:182555149 RNASEL C>A	1	182555149	182555149	C	A	RNASEL	c.793G>T	NM_021133.4	NP_066956.1:p.(Glu265Ter)	NC_000001.10:g.182555149C>A	VUS	3 labs	5ebbad89a7
19:39017687 RYR1 G>A	19	39017687	39017687	G	A	RYR1	c.10681G>A	NM_000540.3	NP_000531.2:p.(Gly3561Arg)	NC_000019.9:g.39017687G>A	VUS	3 labs	5ec6fa593f
11:47359001 MYBPC3 G>C	11	47359001	47359001	G	C	MYBPC3	c.2543C>G	NM_000256.3	NP_000247.2:p.(Ala848Gly)	NC_000011.9:g.47359001G>C	VUS	2 labs	5f14b2446d
17:59926534 BRIP1 G>A	17	59926534	59926534	G	A	BRIP1	c.463C>T	NM_032043.3	NP_114432.2:p.(Gln155Ter)	NC_000017.10:g.59926534G>A	(Likely) pathogenic	2 labs	5f1a7f0584
3:184071131 CLCN2 C>CCGG	3	184071131	184071137	C	CCGG	CLCN2	c.1932_1934dup	NM_004366.6	NP_004357.3:p.(Arg646dup)	NC_000003.11:g.184071135_184071137dup	(Likely) benign	2 labs	5f25baaa3a
16:67694044 ACD C>T	16	67694044	67694044	C	T	ACD	c.80G>A	NM_001082486.2	NP_001075955.2:p.(Arg27Gln)	NC_000016.9:g.67694044C>T	(Likely) benign	4 labs	5f4c093530
17:48275339 COL1A1 G>C	17	48275339	48275339	G	C	COL1A1	c.613C>G	NM_000088.4	NP_000079.2:p.(Pro205Ala)	NC_000017.10:g.48275339G>C	(Likely) benign	4 labs	5f5542860a
20:62321128 RTEL1 G>A	20	62321128	62321128	G	A	RTEL1	c.2051G>A	NM_001283009.2	NP_001269938.1:p.(Arg684Gln)	NC_000020.10:g.62321128G>A	(Likely) benign	2 labs	5f994ad9e8
5:1280411 TERT T>C	5	1280411	1280411	T	C	TERT	c.1812A>G	NM_198253.3	NP_937983.2:p.(Ala604=)	NC_000005.9:g.1280411T>C	(Likely) benign	5 labs	5f99cf331c
16:2136788 TSC2 C>A	16	2136788	2136788	C	A	TSC2	c.4905C>A	NM_000548.5	NP_000539.2:p.(Cys1635Ter)	NC_000016.9:g.2136788C>A	(Likely) pathogenic	2 labs	5f9dc99e80
2:215645978 BARD1 T>C	2	215645978	215645978	T	C	BARD1	c.620A>G	NM_000465.4	NP_000456.2:p.(Lys207Arg)	NC_000002.11:g.215645978T>C	(Likely) benign	3 labs	5fa3a85a57
2:179527266 TTN C>T	2	179527266	179527266	C	T	TTN	c.36952G>A	NM_001267550.2	NP_001254479.2:p.(Val12318Ile)	NC_000002.11:g.179527266C>T	(Likely) benign	4 labs	5fc9bf327b
1:201028299 CACNA1S G>A	1	201028299	201028299	G	A	CACNA1S	c.3525+18C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201028299G>A	(Likely) benign	2 labs	5fea120756
15:89868870 POLG G>A	15	89868870	89868870	G	A	POLG	c.1760C>T	NM_002693.2	NP_002684.1:p.(Pro587Leu)	NC_000015.9:g.89868870G>A	(Likely) pathogenic	6 labs	5fffbf0508
13:32907010 BRCA2 A>C	13	32907010	32907010	A	C	BRCA2	c.1395A>C	NM_000059.4	NP_000050.3:p.(Val465=)	NC_000013.10:g.32907010A>C	(Likely) benign	7 labs	6013d44009
14:23889445 MYH7 T>TG	14	23889445	23889447	T	TG	MYH7	c.3337-3dup	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23889447dup	(Likely) benign	6 labs	601c45175a
7:128492825 FLNC G>A	7	128492825	128492825	G	A	FLNC	c.6004+19G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492825G>A	(Likely) benign	3 labs	603d05533c
X:19364694 PDHA1 G>A	X	19364694	19364694	G	A	PDHA1	c.57+2482G>A	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19364694G>A	(Likely) benign	2 labs	6041c6fb9e
14:95579534 DICER1 C>T	14	95579534	95579534	C	T	DICER1	c.1935G>A	NM_177438.3	NP_803187.1:p.(Pro645=)	NC_000014.8:g.95579534C>T	(Likely) benign	4 labs	6048cbc7b9
X:32509625 DMD A>C	X	32509625	32509625	A	C	DMD	c.2391T>G	NM_004006.3	NP_003997.2:p.(Asn797Lys)	NC_000023.10:g.32509625A>C	(Likely) benign	6 labs	605dd5fb94
7:124481185 POT1 C>A	7	124481185	124481185	C	A	POT1	c.1211G>T	NM_015450.3	NP_056265.2:p.(Gly404Val)	NC_000007.13:g.124481185C>A	(Likely) benign	3 labs	607d0f8d9f
16:23619235 PALB2 A>C	16	23619235	23619235	A	C	PALB2	c.3300T>G	NM_024675.4	NP_078951.2:p.(Thr1100=)	NC_000016.9:g.23619235A>C	(Likely) benign	5 labs	608e013206
16:2160152 PKD1 CCT>C	16	2160152	2160154	CCT	C	PKD1	c.5014_5015del	NM_001009944.3	NP_001009944.3:p.(Arg1672GlyfsTer98)	NC_000016.9:g.2160153_2160154del	(Likely) pathogenic	3 labs	60962f5999
2:179659815 TTN C>G	2	179659815	179659815	C	G	TTN	c.1079G>C	NM_001267550.2	NP_001254479.2:p.(Arg360Thr)	NC_000002.11:g.179659815C>G	(Likely) benign	5 labs	609c3fa624
17:10534960 MYH3 C>T	17	10534960	10534960	C	T	MYH3	c.5254G>A	NM_002470.4	NP_002461.2:p.(Ala1752Thr)	NC_000017.10:g.10534960C>T	(Likely) benign	2 labs	6109a2dcaf
11:22301215 ANO5 C>G	11	22301215	22301215	C	G	ANO5	c.2646C>G	NM_213599.3	NP_998764.1:p.(Asn882Lys)	NC_000011.9:g.22301215C>G	(Likely) benign	4 labs	6110f4852c
5:112173613 APC C>T	5	112173613	112173613	C	T	APC	c.2322C>T	NM_000038.6	NP_000029.2:p.(Asp774=)	NC_000005.9:g.112173613C>T	(Likely) benign	5 labs	61278ee6f5
2:47693849 MSH2 T>C	2	47693849	47693849	T	C	MSH2	c.1563T>C	NM_000251.3	NP_000242.1:p.(Tyr521=)	NC_000002.11:g.47693849T>C	(Likely) benign	2 labs	613cf7a7ed
20:57429447 GNAS C>T	20	57429447	57429447	C	T	GNAS	c.940C>T	NM_001077490.1	NP_001070958.1:p.(Arg314Trp)	NC_000020.10:g.57429447C>T	(Likely) benign	3 labs	6147b1ec2c
10:75860794 VCL A>C	10	75860794	75860794	A	C	VCL	c.1961A>C	NM_014000.3	NP_054706.1:p.(Asn654Thr)	NC_000010.10:g.75860794A>C	VUS	4 labs	6152303294
X:32466625 DMD G>A	X	32466625	32466625	G	A	DMD	c.3734C>T	NM_004006.3	NP_003997.2:p.(Thr1245Ile)	NC_000023.10:g.32466625G>A	(Likely) benign	5 labs	616a37e015
2:179460433 TTN G>A	2	179460433	179460433	G	A	TTN	c.57648C>T	NM_001267550.2	NP_001254479.2:p.(Ile19216=)	NC_000002.11:g.179460433G>A	(Likely) benign	5 labs	6172756989
1:63868019 ALG6 G>A	1	63868019	63868019	G	A	ALG6	c.257+5G>A	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63868019G>A	(Likely) pathogenic	6 labs	61735eb41a
X:14862794 FANCB C>T	X	14862794	14862794	C	T	FANCB	c.1996G>A	NM_001018113.3	NP_001018123.1:p.(Gly666Ser)	NC_000023.10:g.14862794C>T	(Likely) benign	3 labs	61aa58fb82
13:111142139 COL4A2 A>G	13	111142139	111142139	A	G	COL4A2	c.3346+7A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111142139A>G	(Likely) benign	2 labs	61e7d97052
14:95566097 DICER1 AC>A	14	95566097	95566098	AC	A	DICER1	c.4206+19del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566098del	(Likely) benign	3 labs	6220a17802
1:92948938 GFI1 C>T	1	92948938	92948938	C	T	GFI1	c.107G>A	NM_005263.5	NP_005254.2:p.(Ser36Asn)	NC_000001.10:g.92948938C>T	(Likely) benign	2 labs	622f8a5f34
17:78078341 GAA T>G	17	78078341	78078341	T	G	GAA	c.-32-13T>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78078341T>G	(Likely) pathogenic	6 labs	6244efde1e
16:23635370 PALB2 C>T	16	23635370	23635370	C	T	PALB2	c.2794G>A	NM_024675.4	NP_078951.2:p.(Val932Met)	NC_000016.9:g.23635370C>T	(Likely) benign	5 labs	624a9cc375
11:103082590 DYNC2H1 G>A	11	103082590	103082590	G	A	DYNC2H1	c.8612G>A	NM_001080463.2	NP_001073932.1:p.(Arg2871Gln)	NC_000011.9:g.103082590G>A	(Likely) benign	3 labs	62616c6d4f
2:179658175 TTN C>T	2	179658175	179658175	C	T	TTN	c.1492G>A	NM_001267550.2	NP_001254479.2:p.(Val498Ile)	NC_000002.11:g.179658175C>T	(Likely) benign	6 labs	6295774da3
12:48379731 COL2A1 G>T	12	48379731	48379731	G	T	COL2A1	c.1545C>A	NM_001844.5	NP_001835.3:p.(Arg515=)	NC_000012.11:g.48379731G>T	(Likely) benign	2 labs	62cd65b19d
19:15271686 NOTCH3 G>A	19	15271686	15271686	G	A	NOTCH3	c.6753C>T	NM_000435.3	NP_000426.2:p.(Ser2251=)	NC_000019.9:g.15271686G>A	(Likely) benign	2 labs	62dae6719c
15:48818329 FBN1 A>G	15	48818329	48818329	A	G	FBN1	c.986T>C	NM_000138.5	NP_000129.3:p.(Ile329Thr)	NC_000015.9:g.48818329A>G	(Likely) benign	2 labs	631ff425c5
8:145003962 PLEC G>A	8	145003962	145003962	G	A	PLEC	c.2775C>T	NM_201384.3	NP_958786.1:p.(Ala925=)	NC_000008.10:g.145003962G>A	(Likely) benign	2 labs	6320c46d85
6:51890922 PKHD1 C>G	6	51890922	51890922	C	G	PKHD1	c.3686G>C	NM_138694.4	NP_619639.3:p.(Trp1229Ser)	NC_000006.11:g.51890922C>G	(Likely) benign	3 labs	63236a500c
16:2168696 PKD1 G>A	16	2168696	2168696	G	A	PKD1	c.510C>T	NM_001009944.3	NP_001009944.3:p.(Pro170=)	NC_000016.9:g.2168696G>A	(Likely) benign	2 labs	6336c2e396
2:179486376 TTN C>T	2	179486376	179486376	C	T	TTN	c.45175G>A	NM_001267550.2	NP_001254479.2:p.(Ala15059Thr)	NC_000002.11:g.179486376C>T	(Likely) benign	5 labs	633f868d4a
8:144990784 PLEC G>A	8	144990784	144990784	G	A	PLEC	c.13205C>T	NM_201384.3	NP_958786.1:p.(Thr4402Met)	NC_000008.10:g.144990784G>A	(Likely) benign	2 labs	637987256b
14:88411975 GALC C>T	14	88411975	88411975	C	T	GALC	c.1592G>A	NM_000153.4	NP_000144.2:p.(Arg531His)	NC_000014.8:g.88411975C>T	(Likely) pathogenic	2 labs	63ccac93e3
6:51491866 PKHD1 A>T	6	51491866	51491866	A	T	PKHD1	c.11714T>A	NM_138694.4	NP_619639.3:p.(Ile3905Asn)	NC_000006.11:g.51491866A>T	(Likely) benign	2 labs	63ccd85f8e
14:77751332 POMT2 T>C	14	77751332	77751332	T	C	POMT2	c.1537A>G	NM_013382.7	NP_037514.2:p.(Asn513Asp)	NC_000014.8:g.77751332T>C	(Likely) benign	3 labs	64a8ab34e7
9:126135887 CRB2 T>TGGCGCGGCCCCGGCCC	9	126135887	126135914	T	TGGCGCGGCCCCGGCCC	CRB2	c.3089_3104dup	NM_173689.7	NP_775960.4:p.(Gly1036AlafsTer43)	NC_000009.11:g.126135899_126135914dup	(Likely) pathogenic	4 labs	64d505d8ee
2:166915118 SCN1A A>G	2	166915118	166915118	A	G	SCN1A	c.345T>C	NM_001165963.4	NP_001159435.1:p.(Asn115=)	NC_000002.11:g.166915118A>G	(Likely) benign	3 labs	651ac1b92f
2:71838463 DYSF G>T	2	71838463	71838463	G	T	DYSF	c.4046G>T	NM_001130987.2	NP_001124459.1:p.(Arg1349Leu)	NC_000002.11:g.71838463G>T	(Likely) benign	3 labs	6532460f2c
12:49426460 KMT2D A>G	12	49426460	49426460	A	G	KMT2D	c.12028T>C	NM_003482.4	NP_003473.3:p.(Ser4010Pro)	NC_000012.11:g.49426460A>G	(Likely) benign	3 labs	6547aaa2f6
10:89473069 PAPSS2 T>TAAAAA	10	89473069	89473091	T	TAAAAA	PAPSS2	c.381+20_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473087_89473091dup	(Likely) benign	3 labs	6555d72fa2
2:152534609 NEB G>A	2	152534609	152534609	G	A	NEB	c.3348C>T	NM_001164508.2	NP_001157980.2:p.(Asn1116=)	NC_000002.11:g.152534609G>A	(Likely) benign	2 labs	656c80e3cc
11:108114727 ATM G>C	11	108114727	108114727	G	C	ATM	c.544G>C	NM_000051.4	NP_000042.3:p.(Val182Leu)	NC_000011.9:g.108114727G>C	(Likely) benign	5 labs	6576e17af8
1:103468295 COL11A1 C>T	1	103468295	103468295	C	T	COL11A1	c.2043+8G>A	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103468295C>T	(Likely) benign	4 labs	65887ed630
3:38601670 SCN5A C>G	3	38601670	38601670	C	G	SCN5A	c.4213G>C	NM_198056.2	NP_932173.1:p.(Val1405Leu)	NC_000003.11:g.38601670C>G	(Likely) pathogenic	4 labs	65a8972b61
2:71740472 DYSF G>A	2	71740472	71740472	G	A	DYSF	c.553+10G>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71740472G>A	(Likely) benign	2 labs	65e87e67a4
2:179395555 TTN C>A	2	179395555	179395555	C	A	TTN	c.105787G>T	NM_001267550.2	NP_001254479.2:p.(Ala35263Ser)	NC_000002.11:g.179395555C>A	(Likely) benign	5 labs	65ead2a675
16:1250708 CACNA1H C>T	16	1250708	1250708	C	T	CACNA1H	c.1120-8C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1250708C>T	(Likely) benign	2 labs	663d30b7df
2:179455352 TTN C>T	2	179455352	179455352	C	T	TTN	c.61100G>A	NM_001267550.2	NP_001254479.2:p.(Arg20367Gln)	NC_000002.11:g.179455352C>T	(Likely) benign	6 labs	663ef48da6
2:179430224 TTN G>T	2	179430224	179430224	G	T	TTN	c.80635C>A	NM_001267550.2	NP_001254479.2:p.(Gln26879Lys)	NC_000002.11:g.179430224G>T	(Likely) benign	6 labs	664382a2dc
17:59924471 BRIP1 C>A	17	59924471	59924471	C	A	BRIP1	c.618G>T	NM_032043.3	NP_114432.2:p.(Ser206=)	NC_000017.10:g.59924471C>A	(Likely) benign	3 labs	6677e3cfa1
7:148508818 EZH2 G>A	7	148508818	148508818	G	A	EZH2	c.1852-6C>T	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148508818G>A	(Likely) benign	2 labs	66a28e24e8
10:27324405 ANKRD26 G>A	10	27324405	27324405	G	A	ANKRD26	c.2974C>T	NM_014915.3	NP_055730.2:p.(Leu992=)	NC_000010.10:g.27324405G>A	(Likely) benign	2 labs	66df8bcfa1
2:179527475 TTN C>T	2	179527475	179527475	C	T	TTN	c.36855G>A	NM_001267550.2	NP_001254479.2:p.(Pro12285=)	NC_000002.11:g.179527475C>T	(Likely) benign	4 labs	675dd623fc
11:22646532 FANCF C>T	11	22646532	22646532	C	T	FANCF	c.825G>A	NM_022725.4	NP_073562.1:p.(Leu275=)	NC_000011.9:g.22646532C>T	(Likely) benign	3 labs	677b87874b
12:133218746 POLE T>C	12	133218746	133218746	T	C	POLE	c.5173+17A>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133218746T>C	(Likely) benign	4 labs	6794aae783
5:149460542 CSF1R A>C	5	149460542	149460542	A	C	CSF1R	c.95T>G	NM_001288705.3	NP_001275634.1:p.(Val32Gly)	NC_000005.9:g.149460542A>C	(Likely) benign	4 labs	67a8efc060
11:108098533 ATM C>A	11	108098533	108098533	C	A	ATM	c.103C>A	NM_000051.4	NP_000042.3:p.(Arg35=)	NC_000011.9:g.108098533C>A	(Likely) benign	3 labs	67d4a8662e
5:67586574 PIK3R1 G>T	5	67586574	67586574	G	T	PIK3R1	c.18G>T	NM_181504.4	NP_852556.2:p.(Trp6Cys)	NC_000005.9:g.67586574G>T	VUS	4 labs	6808df1cd6
2:215595164 BARD1 G>A	2	215595164	215595164	G	A	BARD1	c.1972C>T	NM_000465.4	NP_000456.2:p.(Arg658Cys)	NC_000002.11:g.215595164G>A	(Likely) benign	4 labs	681b695589
10:89623766 PTEN G>A	10	89623766	89623766	G	A	PTEN	c.-461G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623766G>A	(Likely) benign	4 labs	688c5997bb
2:179453429 TTN G>A	2	179453429	179453429	G	A	TTN	c.63023C>T	NM_001267550.2	NP_001254479.2:p.(Thr21008Ile)	NC_000002.11:g.179453429G>A	(Likely) benign	6 labs	68a5d0b8af
11:46917754 LRP4 C>A	11	46917754	46917754	C	A	LRP4	c.1048+7G>T	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46917754C>A	(Likely) benign	2 labs	68ad114e20
2:179460214 TTN A>AT	2	179460214	179460227	A	AT	TTN	c.57847+19dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460227dup	(Likely) benign	5 labs	68cd7e483e
14:23888371 MYH7 G>A	14	23888371	23888371	G	A	MYH7	c.3972+15C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888371G>A	(Likely) benign	6 labs	68f660c833
13:32907129 BRCA2 T>C	13	32907129	32907129	T	C	BRCA2	c.1514T>C	NM_000059.4	NP_000050.3:p.(Ile505Thr)	NC_000013.10:g.32907129T>C	(Likely) benign	7 labs	690a352054
16:2137924 TSC2 TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG>T	16	2137924	2138002	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	T	TSC2	c.5068+27_5069-47del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2137969_2138002del	(Likely) benign	3 labs	690c79dd12
8:144999499 PLEC C>T	8	144999499	144999499	C	T	PLEC	c.4598G>A	NM_201384.3	NP_958786.1:p.(Arg1533Gln)	NC_000008.10:g.144999499C>T	(Likely) benign	3 labs	690ef4fff7
7:128496654 FLNC A>G	7	128496654	128496654	A	G	FLNC	c.7334A>G	NM_001458.5	NP_001449.3:p.(His2445Arg)	NC_000007.13:g.128496654A>G	VUS	4 labs	696b951444
9:35061983 VCP G>A	9	35061983	35061983	G	A	VCP	c.1081+17C>T	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061983G>A	(Likely) benign	3 labs	697f77e552
2:238289984 COL6A3 C>G	2	238289984	238289984	C	G	COL6A3	c.1471G>C	NM_004369.4	NP_004360.2:p.(Asp491His)	NC_000002.11:g.238289984C>G	(Likely) benign	3 labs	697fa3f37f
2:179435887 TTN A>G	2	179435887	179435887	A	G	TTN	c.74972T>C	NM_001267550.2	NP_001254479.2:p.(Ile24991Thr)	NC_000002.11:g.179435887A>G	(Likely) benign	6 labs	699372de66
8:100887659 VPS13B G>A	8	100887659	100887659	G	A	VPS13B	c.11759G>A	NM_152564.5	NP_689777.3:p.(Arg3920Gln)	NC_000008.10:g.100887659G>A	VUS	2 labs	699b828fe5
19:50910284 POLD1 G>A	19	50910284	50910284	G	A	POLD1	c.1539G>A	NM_002691.4	NP_002682.2:p.(Leu513=)	NC_000019.9:g.50910284G>A	(Likely) benign	3 labs	69a28ad5ff
6:129813607 LAMA2 G>A	6	129813607	129813607	G	A	LAMA2	c.8223G>A	NM_000426.4	NP_000417.3:p.(Thr2741=)	NC_000006.11:g.129813607G>A	(Likely) benign	2 labs	69d62c9d55
10:72644920 PCBD1 C>T	10	72644920	72644920	C	T	PCBD1	c.205G>A	NM_000281.4	NP_000272.1:p.(Val69Met)	NC_000010.10:g.72644920C>T	VUS	2 labs	6a414c02f6
13:32905123 BRCA2 TGACA>T	13	32905123	32905132	TGACA	T	BRCA2	c.755_758del	NM_000059.4	NP_000050.3:p.(Asp252ValfsTer24)	NC_000013.10:g.32905129_32905132del	(Likely) pathogenic	3 labs	6a44c138d2
2:135893372 RAB3GAP1 A>G	2	135893372	135893372	A	G	RAB3GAP1	c.1793A>G	NM_001172435.2	NP_001165906.1:p.(Asn598Ser)	NC_000002.11:g.135893372A>G	(Likely) benign	3 labs	6a6e828f79
10:88441223 LDB3 G>A	10	88441223	88441223	G	A	LDB3	c.352G>A	NM_007078.3	NP_009009.1:p.(Val118Met)	NC_000010.10:g.88441223G>A	(Likely) benign	6 labs	6a7164ff2a
X:80064802 BRWD3 C>T	X	80064802	80064802	C	T	BRWD3	c.33G>A	NM_153252.5	NP_694984.5:p.(Glu11=)	NC_000023.10:g.80064802C>T	(Likely) benign	2 labs	6a8940f661
4:3494991 DOK7 C>T	4	3494991	3494991	C	T	DOK7	c.1278C>T	NM_173660.5	NP_775931.3:p.(Pro426=)	NC_000004.11:g.3494991C>T	(Likely) benign	3 labs	6a8f0c0328
12:48381394 COL2A1 G>A	12	48381394	48381394	G	A	COL2A1	c.1221C>T	NM_001844.5	NP_001835.3:p.(Ser407=)	NC_000012.11:g.48381394G>A	(Likely) benign	3 labs	6a9f8c70a5
X:135292017 FHL1 T>C	X	135292017	135292017	T	C	FHL1	c.737-13T>C	NM_001159699.2	NP_001153171.1:p.?	NC_000023.10:g.135292017T>C	(Likely) benign	6 labs	6aa82754ff
2:238280553 COL6A3 G>A	2	238280553	238280553	G	A	COL6A3	c.4107C>T	NM_004369.4	NP_004360.2:p.(Ile1369=)	NC_000002.11:g.238280553G>A	(Likely) benign	2 labs	6aaf796f8b
4:183715036 TENM3 C>T	4	183715036	183715036	C	T	TENM3	c.7211C>T	NM_001080477.4	NP_001073946.1:p.(Thr2404Ile)	NC_000004.11:g.183715036C>T	VUS	2 labs	6ab789ef7a
20:31387951 DNMT3B C>T	20	31387951	31387951	C	T	DNMT3B	c.1760-8C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31387951C>T	(Likely) benign	3 labs	6ac4d4b081
10:89621863 KLLN G>C	10	89621863	89621863	G	C	KLLN	c.382C>G	NM_001126049.2	NP_001119521.1:p.(Arg128Gly)	NC_000010.10:g.89621863G>C	(Likely) benign	2 labs	6b16d0c7f0
19:13320310 CACNA1A G>C	19	13320310	13320310	G	C	CACNA1A	c.6342C>G	NM_001127222.2	NP_001120694.1:p.(Thr2114=)	NC_000019.9:g.13320310G>C	(Likely) benign	2 labs	6b1a6f7816
20:44523472 CTSA G>A	20	44523472	44523472	G	A	CTSA	c.880G>A	NM_000308.4	NP_000299.3:p.(Asp294Asn)	NC_000020.10:g.44523472G>A	(Likely) benign	2 labs	6b21ca031a
2:179549407 TTN G>A	2	179549407	179549407	G	A	TTN	c.32624C>T	NM_001267550.2	NP_001254479.2:p.(Pro10875Leu)	NC_000002.11:g.179549407G>A	(Likely) benign	4 labs	6b280f92aa
2:73651937 ALMS1 A>G	2	73651937	73651937	A	G	ALMS1	c.1144A>G	NM_001378454.1	NP_001365383.1:p.(Thr382Ala)	NC_000002.11:g.73651937A>G	(Likely) benign	3 labs	6b679b14c5
5:112111302 APC C>CT	5	112111302	112111309	C	CT	APC	c.423-17dup	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111309dup	(Likely) benign	2 labs	6b7889c322
7:139717500 TBXAS1 G>A	7	139717500	139717500	G	A	TBXAS1	c.1394G>A	NM_001061.7	NP_001052.3:p.(Arg465Gln)	NC_000007.13:g.139717500G>A	(Likely) benign	3 labs	6b86e8951d
19:15295265 NOTCH3 G>C	19	15295265	15295265	G	C	NOTCH3	c.2411-4C>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15295265G>C	(Likely) benign	3 labs	6bf1fb64f0
6:51889483 PKHD1 G>A	6	51889483	51889483	G	A	PKHD1	c.5125C>T	NM_138694.4	NP_619639.3:p.(Leu1709Phe)	NC_000006.11:g.51889483G>A	(Likely) benign	2 labs	6c09f29a6e
22:29091856 CHEK2 AG>A	22	29091856	29091857	AG	A	CHEK2	c.1100del	NM_007194.4	NP_009125.1:p.(Thr367MetfsTer15)	NC_000022.10:g.29091857del	(Likely) pathogenic	6 labs	6c1bf80e7d
1:40539817 PPT1 C>G	1	40539817	40539817	C	G	PPT1	c.837G>C	NM_000310.4	NP_000301.1:p.(Gln279His)	NC_000001.10:g.40539817C>G	(Likely) benign	3 labs	6c2e0ea660
2:179593862 TTN G>A	2	179593862	179593862	G	A	TTN	c.18903C>T	NM_001267550.2	NP_001254479.2:p.(Thr6301=)	NC_000002.11:g.179593862G>A	(Likely) benign	3 labs	6c33348d3f
17:59858367 BRIP1 C>T	17	59858367	59858367	C	T	BRIP1	c.1629-1G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59858367C>T	(Likely) pathogenic	2 labs	6c50ef6cac
16:2161666 PKD1 G>A	16	2161666	2161666	G	A	PKD1	c.3502C>T	NM_001009944.3	NP_001009944.3:p.(Pro1168Ser)	NC_000016.9:g.2161666G>A	(Likely) benign	2 labs	6c54d65555
17:7579579 TP53 C>T	17	7579579	7579579	C	T	TP53	c.108G>A	NM_000546.6	NP_000537.3:p.(Pro36=)	NC_000017.10:g.7579579C>T	(Likely) benign	6 labs	6c65162b8d
19:15272218 NOTCH3 G>A	19	15272218	15272218	G	A	NOTCH3	c.6221C>T	NM_000435.3	NP_000426.2:p.(Pro2074Leu)	NC_000019.9:g.15272218G>A	(Likely) benign	2 labs	6c9452e6c8
5:126168433 LMNB1 A>AGAG	5	126168433	126168447	A	AGAG	LMNB1	c.1671_1673dup	NM_005573.4	NP_005564.1:p.(Glu559dup)	NC_000005.9:g.126168445_126168447dup	VUS	2 labs	6cd8a5cd9b
16:3656525 SLX4 C>T	16	3656525	3656525	C	T	SLX4	c.710G>A	NM_032444.4	NP_115820.2:p.(Arg237Gln)	NC_000016.9:g.3656525C>T	(Likely) benign	3 labs	6cf1e65e3f
19:13397324 CACNA1A G>A	19	13397324	13397324	G	A	CACNA1A	c.3546C>T	NM_001127222.2	NP_001120694.1:p.(Val1182=)	NC_000019.9:g.13397324G>A	(Likely) benign	4 labs	6d2c050a50
15:40510662 BUB1B C>T	15	40510662	40510662	C	T	BUB1B	c.2856C>T	NM_001211.6	NP_001202.5:p.(Asp952=)	NC_000015.9:g.40510662C>T	(Likely) benign	2 labs	6d4cfd0505
2:71797762 DYSF G>A	2	71797762	71797762	G	A	DYSF	c.3119G>A	NM_001130987.2	NP_001124459.1:p.(Arg1040Gln)	NC_000002.11:g.71797762G>A	(Likely) benign	4 labs	6d506d8897
15:90627553 IDH2 G>A	15	90627553	90627553	G	A	IDH2	c.1304C>T	NM_002168.4	NP_002159.2:p.(Thr435Met)	NC_000015.9:g.90627553G>A	(Likely) benign	2 labs	6d5072896b
17:4806314 CHRNE G>A	17	4806314	4806314	G	A	CHRNE	c.45C>T	NM_000080.4	NP_000071.1:p.(Leu15=)	NC_000017.10:g.4806314G>A	(Likely) benign	2 labs	6dc0390e10
17:41245861 BRCA1 G>A	17	41245861	41245861	G	A	BRCA1	c.1687C>T	NM_007294.4	NP_009225.1:p.(Gln563Ter)	NC_000017.10:g.41245861G>A	(Likely) pathogenic	6 labs	6dd4dc97f5
10:50732318 ERCC6 G>C	10	50732318	50732318	G	C	ERCC6	c.1158C>G	NM_000124.4	NP_000115.1:p.(Asp386Glu)	NC_000010.10:g.50732318G>C	(Likely) benign	3 labs	6dedb12493
16:2153618 PKD1 C>T	16	2153618	2153618	C	T	PKD1	c.8440G>A	NM_001009944.3	NP_001009944.3:p.(Gly2814Arg)	NC_000016.9:g.2153618C>T	(Likely) benign	2 labs	6df9d739d2
19:7184560 INSR G>A	19	7184560	7184560	G	A	INSR	c.741C>T	NM_000208.4	NP_000199.2:p.(Asp247=)	NC_000019.9:g.7184560G>A	(Likely) benign	2 labs	6e308a9428
22:29090031 CHEK2 G>T	22	29090031	29090031	G	T	CHEK2	c.1450C>A	NM_007194.4	NP_009125.1:p.(Pro484Thr)	NC_000022.10:g.29090031G>T	VUS	4 labs	6e4aa35169
15:89400963 ACAN G>T	15	89400963	89400963	G	T	ACAN	c.5147G>T	NM_001369268.1	NP_001356197.1:p.(Ser1716Ile)	NC_000015.9:g.89400963G>T	(Likely) benign	2 labs	6e67cf12ca
9:101907165 TGFBR1 A>C	9	101907165	101907165	A	C	TGFBR1	c.1125A>C	NM_004612.4	NP_004603.1:p.(Thr375=)	NC_000009.11:g.101907165A>C	(Likely) benign	3 labs	6e7b75ccfc
2:179635919 TTN C>T	2	179635919	179635919	C	T	TTN	c.8116+19G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179635919C>T	(Likely) benign	4 labs	6e933b20cd
9:312134 DOCK8 G>A	9	312134	312134	G	A	DOCK8	c.709G>A	NM_203447.4	NP_982272.2:p.(Glu237Lys)	NC_000009.11:g.312134G>A	(Likely) benign	3 labs	6e97272ea3
12:133212485 POLE C>T	12	133212485	133212485	C	T	POLE	c.5804G>A	NM_006231.4	NP_006222.2:p.(Cys1935Tyr)	NC_000012.11:g.133212485C>T	(Likely) benign	4 labs	6ea92006bb
10:12139688 DHTKD1 G>A	10	12139688	12139688	G	A	DHTKD1	c.1364G>A	NM_018706.7	NP_061176.4:p.(Arg455Gln)	NC_000010.10:g.12139688G>A	VUS	5 labs	6ec9cc7f61
11:108163382 ATM C>T	11	108163382	108163382	C	T	ATM	c.4473C>T	NM_000051.4	NP_000042.3:p.(Phe1491=)	NC_000011.9:g.108163382C>T	(Likely) benign	6 labs	6eccb2b826
2:238256498 COL6A3 T>C	2	238256498	238256498	T	C	COL6A3	c.6981A>G	NM_004369.4	NP_004360.2:p.(Glu2327=)	NC_000002.11:g.238256498T>C	(Likely) benign	2 labs	6edbf02aa3
13:110839488 COL4A1 C>T	13	110839488	110839488	C	T	COL4A1	c.1725G>A	NM_001845.6	NP_001836.3:p.(Ser575=)	NC_000013.10:g.110839488C>T	(Likely) benign	3 labs	6efbda8b15
3:184071984 CLCN2 G>A	3	184071984	184071984	G	A	CLCN2	c.1626C>T	NM_004366.6	NP_004357.3:p.(Asn542=)	NC_000003.11:g.184071984G>A	(Likely) benign	2 labs	6f01b2515e
11:119170362 CBL C>T	11	119170362	119170362	C	T	CBL	c.2592C>T	NM_005188.4	NP_005179.2:p.(Leu864=)	NC_000011.9:g.119170362C>T	(Likely) benign	2 labs	6f28b6d44d
3:10070417 FANCD2 G>C	3	10070417	10070417	G	C	FANCD2	c.64+12G>C	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10070417G>C	(Likely) benign	2 labs	6f42b2be3b
16:23641115 PALB2 G>C	16	23641115	23641115	G	C	PALB2	c.2360C>G	NM_024675.4	NP_078951.2:p.(Thr787Ser)	NC_000016.9:g.23641115G>C	(Likely) benign	2 labs	6f4a8e5740
13:32912750 BRCA2 G>T	13	32912750	32912750	G	T	BRCA2	c.4258G>T	NM_000059.4	NP_000050.3:p.(Asp1420Tyr)	NC_000013.10:g.32912750G>T	(Likely) benign	7 labs	6f54088d84
X:32662355 DMD T>A	X	32662355	32662355	T	A	DMD	c.1225A>T	NM_004006.3	NP_003997.2:p.(Thr409Ser)	NC_000023.10:g.32662355T>A	(Likely) benign	3 labs	6f58f5d710
12:133245032 POLE A>T	12	133245032	133245032	A	T	POLE	c.2083T>A	NM_006231.4	NP_006222.2:p.(Phe695Ile)	NC_000012.11:g.133245032A>T	(Likely) benign	3 labs	6f6bc9b152
2:179400130 TTN G>A	2	179400130	179400130	G	A	TTN	c.101212C>T	NM_001267550.2	NP_001254479.2:p.(Arg33738Cys)	NC_000002.11:g.179400130G>A	(Likely) benign	6 labs	6faab4b835
3:37067099 MLH1 AT>A	3	37067099	37067120	AT	A	MLH1	c.1039-8del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120del	(Likely) benign	2 labs	6fbcf8849c
19:33792731 CEBPA G>GGCGGGT	19	33792731	33792752	G	GGCGGGT	CEBPA	c.584_589dup	NM_004364.5	NP_004355.2:p.(His195_Pro196dup)	NC_000019.9:g.33792747_33792752dup	(Likely) benign	2 labs	6fd5073c4b
2:179584831 TTN G>C	2	179584831	179584831	G	C	TTN	c.23538C>G	NM_001267550.2	NP_001254479.2:p.(Phe7846Leu)	NC_000002.11:g.179584831G>C	(Likely) benign	5 labs	6fe46aa0a9
16:29824599 PRRT2 C>T	16	29824599	29824599	C	T	PRRT2	c.224C>T	NM_145239.3	NP_660282.2:p.(Pro75Leu)	NC_000016.9:g.29824599C>T	(Likely) benign	2 labs	701a5a2439
1:46658217 POMGNT1 C>T	1	46658217	46658217	C	T	POMGNT1	c.1257G>A	NM_017739.4	NP_060209.4:p.(Leu419=)	NC_000001.10:g.46658217C>T	(Likely) benign	3 labs	707987b0d7
13:48954175 RB1 A>T	13	48954175	48954175	A	T	RB1	c.1390-14A>T	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954175A>T	(Likely) benign	2 labs	708e04c7b2
21:47546080 COL6A2 G>A	21	47546080	47546080	G	A	COL6A2	c.2351G>A	NM_001849.4	NP_001840.3:p.(Arg784His)	NC_000021.8:g.47546080G>A	(Likely) benign	4 labs	713a2b8cd2
12:25362762 KRAS TTTC>T	12	25362762	25362770	TTTC	T	KRAS	c.531_533del	NM_004985.5	NP_004976.2:p.(Lys180del)	NC_000012.11:g.25362768_25362770del	(Likely) benign	3 labs	7147dea944
21:47754471 PCNT G>GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	21	47754471	47754548	G	GTGGGATGTTCACAGTCAGTGACCACCCACCAGAACAGCA	PCNT	c.467_505dup	NM_006031.6	NP_006022.3:p.(His156_Gln168dup)	NC_000021.8:g.47754510_47754548dup	(Likely) benign	4 labs	718a88d49c
5:1294166 TERT C>T	5	1294166	1294166	C	T	TERT	c.835G>A	NM_198253.3	NP_937983.2:p.(Ala279Thr)	NC_000005.9:g.1294166C>T	(Likely) benign	5 labs	719ff00d63
2:179411011 TTN T>C	2	179411011	179411011	T	C	TTN	c.95047A>G	NM_001267550.2	NP_001254479.2:p.(Ser31683Gly)	NC_000002.11:g.179411011T>C	(Likely) benign	4 labs	71b1fa4ec4
5:171777495 SH3PXD2B G>T	5	171777495	171777495	G	T	SH3PXD2B	c.884C>A	NM_001017995.3	NP_001017995.1:p.(Pro295Gln)	NC_000005.9:g.171777495G>T	(Likely) benign	2 labs	71ccd7752b
1:156104693 LMNA A>G	1	156104693	156104693	A	G	LMNA				NC_000001.10:g.156104693A>G	VUS	2 labs	724d5c3e38
13:111156250 COL4A2 G>A	13	111156250	111156250	G	A	COL4A2	c.4195G>A	NM_001846.4	NP_001837.2:p.(Val1399Ile)	NC_000013.10:g.111156250G>A	(Likely) benign	3 labs	7288956980
2:48026308 MSH6 C>G	2	48026308	48026308	C	G	MSH6	c.1186C>G	NM_000179.3	NP_000170.1:p.(Leu396Val)	NC_000002.11:g.48026308C>G	(Likely) benign	5 labs	729926359c
19:18280096 PIK3R2 G>A	19	18280096	18280096	G	A	PIK3R2	c.2179G>A	NM_005027.4	NP_005018.2:p.(Ala727Thr)	NC_000019.9:g.18280096G>A	(Likely) benign	3 labs	729aa5fc78
12:133202816 POLE C>T	12	133202816	133202816	C	T	POLE	c.6418G>A	NM_006231.4	NP_006222.2:p.(Glu2140Lys)	NC_000012.11:g.133202816C>T	(Likely) benign	4 labs	7312a7b7b3
7:92763377 SAMD9L G>A	7	92763377	92763377	G	A	SAMD9L	c.1908C>T	NM_152703.5	NP_689916.2:p.(Pro636=)	NC_000007.13:g.92763377G>A	(Likely) benign	2 labs	73a25c78b9
14:75515915 MLH3 C>G	14	75515915	75515915	C	G	MLH3	c.444G>C	NM_001040108.2	NP_001035197.1:p.(Val148=)	NC_000014.8:g.75515915C>G	(Likely) benign	2 labs	7478f50828
2:179654695 TTN C>G	2	179654695	179654695	C	G	TTN	c.1938+10G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179654695C>G	(Likely) benign	5 labs	74b44b5711
13:32900280 BRCA2 TAA>T	13	32900280	32900282	TAA	T	BRCA2	c.469_470del	NM_000059.4	NP_000050.3:p.(Lys157ValfsTer25)	NC_000013.10:g.32900281_32900282del	(Likely) pathogenic	3 labs	74c437894a
3:184070223 CLCN2 A>C	3	184070223	184070223	A	C	CLCN2	c.2271+8T>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070223A>C	(Likely) benign	2 labs	74cd9f9be5
5:147498551 SPINK5 A>G	5	147498551	147498551	A	G	SPINK5	c.2243A>G	NM_006846.4	NP_006837.2:p.(Glu748Gly)	NC_000005.9:g.147498551A>G	(Likely) benign	4 labs	74cf2e86a2
5:79950719 MSH3 C>T	5	79950719	79950719	C	T	MSH3	c.173C>T	NM_002439.5	NP_002430.3:p.(Ala58Val)	NC_000005.9:g.79950719C>T	(Likely) benign	2 labs	74db1cc8f6
8:100844615 VPS13B A>G	8	100844615	100844615	A	G	VPS13B	c.9349A>G	NM_152564.5	NP_689777.3:p.(Ser3117Gly)	NC_000008.10:g.100844615A>G	(Likely) benign	3 labs	74e0df36a5
2:179410721 TTN G>A	2	179410721	179410721	G	A	TTN	c.95242C>T	NM_001267550.2	NP_001254479.2:p.(Arg31748Cys)	NC_000002.11:g.179410721G>A	(Likely) benign	4 labs	751399d880
6:129571272 LAMA2 G>A	6	129571272	129571272	G	A	LAMA2	c.1798G>A	NM_000426.4	NP_000417.3:p.(Gly600Arg)	NC_000006.11:g.129571272G>A	(Likely) benign	3 labs	7527da2b99
16:2160323 PKD1 G>A	16	2160323	2160323	G	A	PKD1	c.4845C>T	NM_001009944.3	NP_001009944.3:p.(Asn1615=)	NC_000016.9:g.2160323G>A	(Likely) benign	4 labs	752caff2dc
2:179396766 TTN C>T	2	179396766	179396766	C	T	TTN	c.104576G>A	NM_001267550.2	NP_001254479.2:p.(Arg34859Gln)	NC_000002.11:g.179396766C>T	(Likely) benign	6 labs	7537bd62c9
6:129601231 LAMA2 C>T	6	129601231	129601231	C	T	LAMA2	c.2476C>T	NM_000426.4	NP_000417.3:p.(Arg826Trp)	NC_000006.11:g.129601231C>T	(Likely) benign	2 labs	756ca5e26b
11:108172382 ATM G>C	11	108172382	108172382	G	C	ATM	c.5185G>C	NM_000051.4	NP_000042.3:p.(Val1729Leu)	NC_000011.9:g.108172382G>C	VUS	6 labs	757fd0f139
16:23637566 PALB2 G>A	16	23637566	23637566	G	A	PALB2	c.2739C>T	NM_024675.4	NP_078951.2:p.(His913=)	NC_000016.9:g.23637566G>A	(Likely) benign	2 labs	7697d07514
17:7578210 TP53 T>C	17	7578210	7578210	T	C	TP53	c.639A>G	NM_000546.6	NP_000537.3:p.(Arg213=)	NC_000017.10:g.7578210T>C	(Likely) benign	6 labs	75946466ef
9:97934367 FANCC T>C	9	97934367	97934367	T	C	FANCC	c.408A>G	NM_000136.3	NP_000127.2:p.(Gln136=)	NC_000009.11:g.97934367T>C	(Likely) benign	2 labs	75a91c2b25
19:39052108 RYR1 C>T	19	39052108	39052108	C	T	RYR1	c.12624+14C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39052108C>T	(Likely) benign	2 labs	75b504ea69
4:15534868 CC2D2A A>G	4	15534868	15534868	A	G	CC2D2A	c.1519A>G	NM_001378615.1	NP_001365544.1:p.(Lys507Glu)	NC_000004.11:g.15534868A>G	(Likely) benign	3 labs	75fb7f8e97
14:74970041 LTBP2 A>G	14	74970041	74970041	A	G	LTBP2	c.4769T>C	NM_000428.3	NP_000419.1:p.(Val1590Ala)	NC_000014.8:g.74970041A>G	(Likely) benign	2 labs	760f916684
19:18899238 COMP G>C	19	18899238	18899238	G	C	COMP	c.848C>G	NM_000095.3	NP_000086.2:p.(Pro283Arg)	NC_000019.9:g.18899238G>C	(Likely) benign	2 labs	761a8d066d
X:119005968 NDUFA1 G>C	X	119005968	119005968	G	C	NDUFA1	c.94G>C	NM_004541.4	NP_004532.1:p.(Gly32Arg)	NC_000023.10:g.119005968G>C	(Likely) benign	4 labs	76598e61d3
6:119137147 MCM9 T>C	6	119137147	119137147	T	C	MCM9	c.2272A>G	NM_017696.3	NP_060166.2:p.(Thr758Ala)	NC_000006.11:g.119137147T>C	(Likely) benign	2 labs	769d15fd79
7:143027910 CLCN1 G>A	7	143027910	143027910	G	A	CLCN1	c.899G>A	NM_000083.3	NP_000074.3:p.(Arg300Gln)	NC_000007.13:g.143027910G>A	(Likely) benign	2 labs	76ce6da503
2:165984284 SCN3A C>T	2	165984284	165984284	C	T	SCN3A	c.3250G>A	NM_006922.4	NP_008853.3:p.(Val1084Ile)	NC_000002.11:g.165984284C>T	(Likely) benign	2 labs	76e7b91238
1:45798475 MUTYH T>C	1	45798475	45798475	T	C	MUTYH	c.452A>G	NM_001048174.2	NP_001041639.1:p.(Tyr151Cys)	NC_000001.10:g.45798475T>C	(Likely) pathogenic	6 labs	76f9a92051
15:66777345 MAP2K1 G>A	15	66777345	66777345	G	A	MAP2K1	c.711G>A	NM_002755.4	NP_002746.1:p.(Gly237=)	NC_000015.9:g.66777345G>A	(Likely) benign	2 labs	773a6ebbe8
2:48033981 MSH6 T>TTTGA	2	48033981	48033987	T	TTTGA	MSH6	c.4068_4071dup	NM_000179.3	NP_000170.1:p.(Lys1358AspfsTer2)	NC_000002.11:g.48033984_48033987dup	(Likely) benign	5 labs	7745ce05aa
2:179596554 TTN T>C	2	179596554	179596554	T	C	TTN	c.17048A>G	NM_001267550.2	NP_001254479.2:p.(Tyr5683Cys)	NC_000002.11:g.179596554T>C	(Likely) benign	4 labs	77b0c732a9
19:50910293 POLD1 C>T	19	50910293	50910293	C	T	POLD1	c.1548C>T	NM_002691.4	NP_002682.2:p.(Ala516=)	NC_000019.9:g.50910293C>T	(Likely) benign	3 labs	77bc5cf2a7
12:133218277 POLE G>A	12	133218277	133218277	G	A	POLE	c.5334C>T	NM_006231.4	NP_006222.2:p.(Ala1778=)	NC_000012.11:g.133218277G>A	(Likely) benign	3 labs	77ccb4241b
20:6750882 BMP2 T>G	20	6750882	6750882	T	G	BMP2	c.109T>G	NM_001200.4	NP_001191.1:p.(Ser37Ala)	NC_000020.10:g.6750882T>G	(Likely) benign	2 labs	77e9942d66
X:76938153 ATRX G>C	X	76938153	76938153	G	C	ATRX	c.2595C>G	NM_000489.6	NP_000480.3:p.(His865Gln)	NC_000023.10:g.76938153G>C	(Likely) benign	4 labs	787d7f637c
17:38242956 THRA C>T	17	38242956	38242956	C	T	THRA	c.577-4C>T	NM_199334.5	NP_955366.1:p.?	NC_000017.10:g.38242956C>T	(Likely) benign	2 labs	78a7d9ed9e
19:7267746 INSR A>G	19	7267746	7267746	A	G	INSR	c.262T>C	NM_000208.4	NP_000199.2:p.(Leu88=)	NC_000019.9:g.7267746A>G	(Likely) benign	3 labs	78ba9c5cee
18:2925359 LPIN2 C>T	18	2925359	2925359	C	T	LPIN2	c.1801G>A	NM_001375808.2	NP_001362737.1:p.(Glu601Lys)	NC_000018.9:g.2925359C>T	(Likely) benign	2 labs	78d465f78d
10:89473069 PAPSS2 TA>T	10	89473069	89473091	TA	T	PAPSS2	c.381+24del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473091del	(Likely) benign	2 labs	7908f5cf39
3:52436441 BAP1 C>A	3	52436441	52436441	C	A	BAP1	c.2057-4G>T	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52436441C>A	(Likely) benign	3 labs	7b4e1faa36
X:31496398 DMD T>C	X	31496398	31496398	T	C	DMD	c.8762A>G	NM_004006.3	NP_003997.2:p.(His2921Arg)	NC_000023.10:g.31496398T>C	(Likely) benign	5 labs	791dfdc3f5
19:39037177 RYR1 A>G	19	39037177	39037177	A	G	RYR1	c.12094+11A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39037177A>G	(Likely) benign	2 labs	795c3787b6
5:112128202 APC A>G	5	112128202	112128202	A	G	APC	c.705A>G	NM_000038.6	NP_000029.2:p.(Leu235=)	NC_000005.9:g.112128202A>G	(Likely) benign	6 labs	79745d97af
1:197396964 CRB1 G>C	1	197396964	197396964	G	C	CRB1				NC_000001.10:g.197396964G>C	(Likely) pathogenic	2 labs	799ee2e917
2:179394742 TTN A>G	2	179394742	179394742	A	G	TTN	c.106476T>C	NM_001267550.2	NP_001254479.2:p.(Cys35492=)	NC_000002.11:g.179394742A>G	(Likely) benign	5 labs	79b7fe18eb
21:47532093 COL6A2 G>A	21	47532093	47532093	G	A	COL6A2	c.316G>A	NM_001849.4	NP_001840.3:p.(Glu106Lys)	NC_000021.8:g.47532093G>A	(Likely) benign	4 labs	79d2f81480
15:42676689 CAPN3 C>T	15	42676689	42676689	C	T	CAPN3	c.318C>T	NM_000070.3	NP_000061.1:p.(Cys106=)	NC_000015.9:g.42676689C>T	(Likely) benign	2 labs	79d63a60dc
11:108192159 ATM G>T	11	108192159	108192159	G	T	ATM	c.6572+12G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108192159G>T	(Likely) benign	4 labs	7a5a97b817
20:57429696 GNAS C>CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	20	57429696	57429715	C	CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	GNAS	c.1207_1208insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC	NM_001077490.1	NP_001070958.1:p.(Ile402_Gln403insProThrProGlyArgProValThrProGlnProIle)	NC_000020.10:g.57429714_57429715insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC	(Likely) benign	2 labs	7a954b305b
10:50732139 ERCC6 C>T	10	50732139	50732139	C	T	ERCC6	c.1337G>A	NM_000124.4	NP_000115.1:p.(Gly446Asp)	NC_000010.10:g.50732139C>T	(Likely) benign	2 labs	7ab5048e8f
21:47404302 COL6A1 G>A	21	47404302	47404302	G	A	COL6A1	c.347G>A	NM_001848.3	NP_001839.2:p.(Ser116Asn)	NC_000021.8:g.47404302G>A	(Likely) benign	5 labs	7ad518d1da
3:10106408 FANCD2 C>T	3	10106408	10106408	C	T	FANCD2	c.2022-5C>T	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10106408C>T	(Likely) benign	3 labs	7ae4482c3d
14:75497239 MLH3 G>T	14	75497239	75497239	G	T	MLH3	c.3987+7C>A	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75497239G>T	(Likely) benign	2 labs	7b30eda064
2:71795460 DYSF G>A	2	71795460	71795460	G	A	DYSF	c.2856G>A	NM_001130987.2	NP_001124459.1:p.(Pro952=)	NC_000002.11:g.71795460G>A	(Likely) benign	2 labs	7b57bcdf89
11:108175394 ATM T>C	11	108175394	108175394	T	C	ATM	c.5497-8T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108175394T>C	(Likely) benign	6 labs	7b7244e3f2
15:89389050 ACAN T>C	15	89389050	89389050	T	C	ACAN	c.1366T>C	NM_001369268.1	NP_001356197.1:p.(Phe456Leu)	NC_000015.9:g.89389050T>C	(Likely) benign	3 labs	7b7e91c4c7
17:41251803 BRCA1 T>C	17	41251803	41251803	T	C	BRCA1	c.536A>G	NM_007294.4	NP_009225.1:p.(Tyr179Cys)	NC_000017.10:g.41251803T>C	(Likely) benign	7 labs	7ba07944d8
2:152580766 NEB A>G	2	152580766	152580766	A	G	NEB	c.612+8T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152580766A>G	(Likely) benign	2 labs	7bb55cb2b9
8:145003702 PLEC G>A	8	145003702	145003702	G	A	PLEC	c.2961C>T	NM_201384.3	NP_958786.1:p.(Ser987=)	NC_000008.10:g.145003702G>A	(Likely) benign	2 labs	7bdc5aeba5
2:152536299 NEB T>C	2	152536299	152536299	T	C	NEB	c.3191A>G	NM_001164508.2	NP_001157980.2:p.(Tyr1064Cys)	NC_000002.11:g.152536299T>C	(Likely) benign	2 labs	7be3cd7259
5:236650 SDHA G>A	5	236650	236650	G	A	SDHA	c.1368G>A	NM_004168.4	NP_004159.2:p.(Ser456=)	NC_000005.9:g.236650G>A	(Likely) benign	6 labs	7be70a7942
2:71829924 DYSF A>G	2	71829924	71829924	A	G	DYSF	c.3946A>G	NM_001130987.2	NP_001124459.1:p.(Ile1316Val)	NC_000002.11:g.71829924A>G	(Likely) benign	2 labs	7befb03181
3:15520838 COLQ T>C	3	15520838	15520838	T	C	COLQ	c.366+7A>G	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15520838T>C	(Likely) benign	3 labs	7c573f62b0
19:15300136 NOTCH3 A>G	19	15300136	15300136	A	G	NOTCH3	c.1140T>C	NM_000435.3	NP_000426.2:p.(Pro380=)	NC_000019.9:g.15300136A>G	(Likely) benign	3 labs	7c5a3727fb
16:2147357 PKD1 G>A	16	2147357	2147357	G	A	PKD1	c.10368C>T	NM_001009944.3	NP_001009944.3:p.(Ala3456=)	NC_000016.9:g.2147357G>A	(Likely) benign	2 labs	7c6440ec60
17:10541497 MYH3 C>T	17	10541497	10541497	C	T	MYH3	c.3592G>A	NM_002470.4	NP_002461.2:p.(Ala1198Thr)	NC_000017.10:g.10541497C>T	(Likely) benign	4 labs	7c7a7a9c8b
13:32914174 BRCA2 C>G	13	32914174	32914174	C	G	BRCA2	c.5682C>G	NM_000059.4	NP_000050.3:p.(Tyr1894Ter)	NC_000013.10:g.32914174C>G	(Likely) pathogenic	6 labs	7c8a04abf8
12:133237753 POLE GAA>G	12	133237753	133237767	GAA	G	POLE	c.2865-5_2865-4del	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133237766_133237767del	(Likely) benign	3 labs	7ca713c925
12:112891203 PTPN11 G>C	12	112891203	112891203	G	C	PTPN11	c.525+12G>C	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112891203G>C	(Likely) benign	4 labs	7ccc678c09
19:50912126 POLD1 G>A	19	50912126	50912126	G	A	POLD1	c.1860G>A	NM_002691.4	NP_002682.2:p.(Thr620=)	NC_000019.9:g.50912126G>A	(Likely) benign	3 labs	7d1df648df
21:44480544 CBS G>A	21	44480544	44480544	G	A	CBS	c.1145+7C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44480544G>A	(Likely) benign	4 labs	7d40ba4526
4:1803737 FGFR3 C>T	4	1803737	1803737	C	T	FGFR3	c.915C>T	NM_000142.5	NP_000133.1:p.(Tyr305=)	NC_000004.11:g.1803737C>T	(Likely) benign	3 labs	7d5a45a020
6:51695805 PKHD1 A>T	6	51695805	51695805	A	T	PKHD1	c.8174-18T>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51695805A>T	(Likely) benign	2 labs	7d6fe2a79b
9:36846910 PAX5 C>T	9	36846910	36846910	C	T	PAX5	c.1029G>A	NM_016734.3	NP_057953.1:p.(Gly343=)	NC_000009.11:g.36846910C>T	(Likely) benign	2 labs	7de14586bb
2:179613651 TTN G>A	2	179613651	179613651	G	A	TTN	c.11311+4200C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613651G>A	(Likely) benign	4 labs	7df946e39d
20:57428845 GNAS T>C	20	57428845	57428845	T	C	GNAS	c.338T>C	NM_001077490.1	NP_001070958.1:p.(Val113Ala)	NC_000020.10:g.57428845T>C	(Likely) benign	2 labs	7e077ca1d6
8:38285926 FGFR1 T>G	8	38285926	38285926	T	G	FGFR1	c.386A>C	NM_023110.3	NP_075598.2:p.(Asp129Ala)	NC_000008.10:g.38285926T>G	VUS	2 labs	7e11b8902b
18:21124907 NPC1 A>AC	18	21124907	21124916	A	AC	NPC1	c.1947+16dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916dup	(Likely) benign	4 labs	7e30174bbe
9:135946717 CEL T>G	9	135946717	135946717	T	G	CEL	c.1828T>G	NM_001807.6	NP_001798.3:p.(Ser610Ala)	NC_000009.11:g.135946717T>G	(Likely) benign	2 labs	7e6a1760c8
3:142269075 ATR C>T	3	142269075	142269075	C	T	ATR	c.2875G>A	NM_001184.4	NP_001175.2:p.(Val959Met)	NC_000003.11:g.142269075C>T	(Likely) benign	2 labs	7e9cb5fab9
1:116268178 CASQ2 GAAAA>G	1	116268178	116268201	GAAAA	G	CASQ2	c.738-8_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268198_116268201del	(Likely) benign	6 labs	7ec50d1710
9:271638 DOCK8 C>T	9	271638	271638	C	T	DOCK8	c.65C>T	NM_203447.4	NP_982272.2:p.(Ala22Val)	NC_000009.11:g.271638C>T	(Likely) benign	2 labs	7ecdbc87e8
2:48027268 MSH6 ACAGT>A	2	48027268	48027275	ACAGT	A	MSH6	c.2150_2153del	NM_000179.3	NP_000170.1:p.(Val717AlafsTer18)	NC_000002.11:g.48027272_48027275del	(Likely) pathogenic	4 labs	7ed0d8b1b0
1:156100489 LMNA C>T	1	156100489	156100489	C	T	LMNA	c.438C>T	NM_170707.4	NP_733821.1:p.(Ala146=)	NC_000001.10:g.156100489C>T	(Likely) benign	5 labs	7ed23abe96
22:38528888 PLA2G6 C>T	22	38528888	38528888	C	T	PLA2G6	c.1027G>A	NM_003560.4	NP_003551.2:p.(Ala343Thr)	NC_000022.10:g.38528888C>T	(Likely) benign	4 labs	7ee8351b83
11:108180917 ATM T>C	11	108180917	108180917	T	C	ATM	c.5793T>C	NM_000051.4	NP_000042.3:p.(Ala1931=)	NC_000011.9:g.108180917T>C	(Likely) benign	5 labs	7ee856ecb4
13:32914887 BRCA2 T>TA	13	32914887	32914888	T	TA	BRCA2	c.6396dup	NM_000059.4	NP_000050.3:p.(Ser2133IlefsTer3)	NC_000013.10:g.32914888dup	(Likely) pathogenic	2 labs	7ef609e0c7
5:127873094 FBN2 G>A	5	127873094	127873094	G	A	FBN2	c.203C>T	NM_001999.4	NP_001990.2:p.(Ala68Val)	NC_000005.9:g.127873094G>A	(Likely) benign	3 labs	7f1ed79e37
15:48712876 FBN1 T>G	15	48712876	48712876	T	G	FBN1	c.7819+8A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48712876T>G	(Likely) benign	4 labs	7f27c0871b
11:111957665 SDHD G>A	11	111957665	111957665	G	A	SDHD	c.34G>A	NM_003002.4	NP_002993.1:p.(Gly12Ser)	NC_000011.9:g.111957665G>A	(Likely) benign	3 labs	7f34278944
2:220283592 DES C>T	2	220283592	220283592	C	T	DES	c.408C>T	NM_001927.4	NP_001918.3:p.(Leu136=)	NC_000002.11:g.220283592C>T	(Likely) benign	6 labs	7f4d105190
5:112178995 APC A>G	5	112178995	112178995	A	G	APC	c.7704A>G	NM_000038.6	NP_000029.2:p.(Gly2568=)	NC_000005.9:g.112178995A>G	(Likely) benign	4 labs	7f9603b23d
19:39061258 RYR1 C>G	19	39061258	39061258	C	G	RYR1	c.13671C>G	NM_000540.3	NP_000531.2:p.(Ser4557=)	NC_000019.9:g.39061258C>G	(Likely) benign	2 labs	7fa156a94e
2:152520270 NEB A>C	2	152520270	152520270	A	C	NEB	c.5555T>G	NM_001164508.2	NP_001157980.2:p.(Met1852Arg)	NC_000002.11:g.152520270A>C	(Likely) benign	4 labs	7fb2d1d397
12:133202740 POLE C>T	12	133202740	133202740	C	T	POLE	c.6494G>A	NM_006231.4	NP_006222.2:p.(Arg2165His)	NC_000012.11:g.133202740C>T	(Likely) benign	3 labs	804541487f
4:5733236 EVC C>G	4	5733236	5733236	C	G	EVC	c.469C>G	NM_153717.3	NP_714928.1:p.(Pro157Ala)	NC_000004.11:g.5733236C>G	(Likely) benign	2 labs	80506345c8
16:1252114 CACNA1H C>T	16	1252114	1252114	C	T	CACNA1H	c.1664C>T	NM_021098.3	NP_066921.2:p.(Ala555Val)	NC_000016.9:g.1252114C>T	(Likely) benign	2 labs	805da24967
10:97447110 TCTN3 A>G	10	97447110	97447110	A	G	TCTN3	c.630T>C	NM_015631.6	NP_056446.4:p.(Ala210=)	NC_000010.10:g.97447110A>G	(Likely) benign	2 labs	80a097c37d
5:256514 SDHA G>C	5	256514	256514	G	C	SDHA	c.1974G>C	NM_004168.4	NP_004159.2:p.(Pro658=)	NC_000005.9:g.256514G>C	(Likely) benign	4 labs	80c09d9c6f
11:108141955 ATM C>CT	11	108141955	108141970	C	CT	ATM	c.2922-8dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141970dup	(Likely) benign	3 labs	80c2c1df2e
11:22301077 ANO5 A>G	11	22301077	22301077	A	G	ANO5	c.2521-13A>G	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22301077A>G	(Likely) benign	3 labs	80fde5ecad
17:63533199 AXIN2 C>T	17	63533199	63533199	C	T	AXIN2	c.1713-18G>A	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63533199C>T	(Likely) benign	3 labs	811ac30cb5
12:133240967 POLE G>A	12	133240967	133240967	G	A	POLE	c.2550C>T	NM_006231.4	NP_006222.2:p.(Ile850=)	NC_000012.11:g.133240967G>A	(Likely) benign	3 labs	81400841e5
2:238274560 COL6A3 G>A	2	238274560	238274560	G	A	COL6A3	c.5619C>T	NM_004369.4	NP_004360.2:p.(His1873=)	NC_000002.11:g.238274560G>A	(Likely) benign	2 labs	8145f4742f
17:41246481 BRCA1 T>C	17	41246481	41246481	T	C	BRCA1	c.1067A>G	NM_007294.4	NP_009225.1:p.(Gln356Arg)	NC_000017.10:g.41246481T>C	(Likely) benign	7 labs	81968a083d
8:57876576 BPNT2 T>C	8	57876576	57876576	T	C	BPNT2	c.856A>G	NM_017813.5	NP_060283.3:p.(Lys286Glu)	NC_000008.10:g.57876576T>C	(Likely) benign	2 labs	819c7e55ff
8:11407783 BLK G>A	8	11407783	11407783	G	A	BLK	c.472+12G>A	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11407783G>A	(Likely) benign	2 labs	81c6726008
13:100921056 PCCA A>G	13	100921056	100921056	A	G	PCCA	c.914+19A>G	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100921056A>G	(Likely) benign	3 labs	81c68f3edd
1:43815009 MPL G>T	1	43815009	43815009	G	T	MPL	c.1544G>T	NM_005373.3	NP_005364.1:p.(Trp515Leu)	NC_000001.10:g.43815009G>T	(Likely) pathogenic	2 labs	81c68f9ed6
2:179422206 TTN TG>T	2	179422206	179422208	TG	T	TTN	c.87782del	NM_001267550.2	NP_001254479.2:p.(Pro29261GlnfsTer10)	NC_000002.11:g.179422208del	(Likely) pathogenic	4 labs	81defd7ca7
19:50906298 POLD1 C>T	19	50906298	50906298	C	T	POLD1	c.971-12C>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50906298C>T	(Likely) benign	3 labs	81e5431f59
X:50350726 SHROOM4 T>TC	X	50350726	50350727	T	TC	SHROOM4	c.3415dup	NM_020717.5	NP_065768.2:p.(Glu1139GlyfsTer39)	NC_000023.10:g.50350727dup	(Likely) benign	4 labs	81ee59fdd4
20:4680217 PRNP A>G	20	4680217	4680217	A	G	PRNP	c.351A>G	NM_000311.5	NP_000302.1:p.(Ala117=)	NC_000020.10:g.4680217A>G	(Likely) benign	3 labs	81fa1924ff
9:135946919 CEL G>GC	9	135946919	135946920	G	GC	CEL	c.2030_2031insC	NM_001807.6	NP_001798.3:p.(Pro678AlafsTer9)	NC_000009.11:g.135946919_135946920insC	VUS	2 labs	820c9b284b
2:179419792 TTN G>A	2	179419792	179419792	G	A	TTN	c.88394C>T	NM_001267550.2	NP_001254479.2:p.(Ser29465Phe)	NC_000002.11:g.179419792G>A	(Likely) benign	6 labs	8254578e58
19:15295266 NOTCH3 G>A	19	15295266	15295266	G	A	NOTCH3	c.2411-5C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15295266G>A	(Likely) benign	2 labs	8275746e53
17:29483108 NF1 C>T	17	29483108	29483108	C	T	NF1	c.168C>T	NM_001042492.3	NP_001035957.1:p.(Ser56=)	NC_000017.10:g.29483108C>T	(Likely) benign	4 labs	82e125a3c0
2:215674376 BARD1 G>A	2	215674376	215674376	G	A	BARD1	c.-83C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674376G>A	(Likely) benign	2 labs	82fe5992c7
5:112173899 APC C>T	5	112173899	112173899	C	T	APC	c.2608C>T	NM_000038.6	NP_000029.2:p.(Pro870Ser)	NC_000005.9:g.112173899C>T	(Likely) benign	4 labs	830cbe250e
15:89392689 ACAN C>A	15	89392689	89392689	C	A	ACAN	c.1753C>A	NM_001369268.1	NP_001356197.1:p.(Arg585Ser)	NC_000015.9:g.89392689C>A	(Likely) benign	2 labs	831bfe11f7
5:236653 SDHA C>A	5	236653	236653	C	A	SDHA	c.1371C>A	NM_004168.4	NP_004159.2:p.(Leu457=)	NC_000005.9:g.236653C>A	(Likely) benign	2 labs	83207f7d9d
X:31462708 DMD C>T	X	31462708	31462708	C	T	DMD	c.8974G>A	NM_004006.3	NP_003997.2:p.(Val2992Met)	NC_000023.10:g.31462708C>T	(Likely) benign	2 labs	835217db5f
19:39025366 RYR1 C>G	19	39025366	39025366	C	G	RYR1	c.11266C>G	NM_000540.3	NP_000531.2:p.(Gln3756Glu)	NC_000019.9:g.39025366C>G	(Likely) benign	3 labs	836f854c2c
2:71740897 DYSF C>A	2	71740897	71740897	C	A	DYSF	c.605C>A	NM_001130987.2	NP_001124459.1:p.(Ala202Glu)	NC_000002.11:g.71740897C>A	(Likely) benign	3 labs	83a4b84230
5:149447766 CSF1R G>A	5	149447766	149447766	G	A	CSF1R	c.1626+12C>T	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149447766G>A	(Likely) benign	2 labs	83c9c004eb
7:143017756 CLCN1 G>A	7	143017756	143017756	G	A	CLCN1	c.302-1G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143017756G>A	(Likely) pathogenic	2 labs	83da5dc362
7:6026908 PMS2 G>A	7	6026908	6026908	G	A	PMS2	c.1488C>T	NM_000535.7	NP_000526.2:p.(His496=)	NC_000007.13:g.6026908G>A	(Likely) benign	4 labs	83dc6b550b
13:110844637 COL4A1 G>A	13	110844637	110844637	G	A	COL4A1	c.1466-6C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110844637G>A	(Likely) benign	2 labs	83df29ed5f
2:238290066 COL6A3 G>A	2	238290066	238290066	G	A	COL6A3	c.1389C>T	NM_004369.4	NP_004360.2:p.(Ala463=)	NC_000002.11:g.238290066G>A	(Likely) benign	2 labs	83f863d8aa
2:179540461 TTN G>T	2	179540461	179540461	G	T	TTN	c.34474C>A	NM_001267550.2	NP_001254479.2:p.(Pro11492Thr)	NC_000002.11:g.179540461G>T	(Likely) benign	6 labs	8479d06d49
5:147484503 SPINK5 G>A	5	147484503	147484503	G	A	SPINK5	c.1431-12G>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147484503G>A	(Likely) pathogenic	2 labs	848b6de97a
8:11614502 GATA4 C>T	8	11614502	11614502	C	T	GATA4	c.1059C>T	NM_001308093.3	NP_001295022.1:p.(Asn353=)	NC_000008.10:g.11614502C>T	(Likely) benign	2 labs	84979892de
19:15272337 NOTCH3 G>A	19	15272337	15272337	G	A	NOTCH3	c.6102C>T	NM_000435.3	NP_000426.2:p.(Pro2034=)	NC_000019.9:g.15272337G>A	(Likely) benign	2 labs	849fc09028
16:2154643 PKD1 CCT>C	16	2154643	2154645	CCT	C	PKD1	c.8017-2_8017-1del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2154644_2154645del	(Likely) pathogenic	2 labs	84aa03d6a9
12:110252521 TRPV4 A>G	12	110252521	110252521	A	G	TRPV4	c.81T>C	NM_021625.5	NP_067638.3:p.(Gly27=)	NC_000012.11:g.110252521A>G	(Likely) benign	2 labs	84ce1a2709
2:179433221 TTN T>C	2	179433221	179433221	T	C	TTN	c.77638A>G	NM_001267550.2	NP_001254479.2:p.(Thr25880Ala)	NC_000002.11:g.179433221T>C	(Likely) benign	4 labs	84e4d69463
4:79238649 FRAS1 T>C	4	79238649	79238649	T	C	FRAS1	c.1947T>C	NM_025074.7	NP_079350.5:p.(His649=)	NC_000004.11:g.79238649T>C	(Likely) benign	2 labs	851cafeb53
6:51776760 PKHD1 GAA>G	6	51776760	51776767	GAA	G	PKHD1	c.6333-8_6333-7del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51776766_51776767del	(Likely) benign	2 labs	8525d8d3c0
19:1221293 STK11 C>T	19	1221293	1221293	C	T	STK11	c.816C>T	NM_000455.5	NP_000446.1:p.(Tyr272=)	NC_000019.9:g.1221293C>T	(Likely) benign	3 labs	853a70cec7
22:50964255 TYMP C>T	22	50964255	50964255	C	T	TYMP	c.1393G>A	NM_001953.5	NP_001944.1:p.(Ala465Thr)	NC_000022.10:g.50964255C>T	(Likely) benign	2 labs	853ed458f6
16:29825022 PRRT2 C>T	16	29825022	29825022	C	T	PRRT2	c.647C>T	NM_145239.3	NP_660282.2:p.(Pro216Leu)	NC_000016.9:g.29825022C>T	(Likely) benign	4 labs	854562e961
15:99459278 IGF1R C>T	15	99459278	99459278	C	T	IGF1R	c.1914C>T	NM_000875.5	NP_000866.1:p.(Asn638=)	NC_000015.9:g.99459278C>T	(Likely) benign	2 labs	8569572d51
15:89390513 ACAN C>T	15	89390513	89390513	C	T	ACAN	c.1469C>T	NM_001369268.1	NP_001356197.1:p.(Ser490Leu)	NC_000015.9:g.89390513C>T	(Likely) benign	3 labs	858f53e8d3
15:25616729 UBE3A C>T	15	25616729	25616729	C	T	UBE3A	c.592G>A	NM_130839.5	NP_570854.1:p.(Ala198Thr)	NC_000015.9:g.25616729C>T	(Likely) benign	3 labs	85af05bf09
5:176722005 NSD1 G>A	5	176722005	176722005	G	A	NSD1	c.7636G>A	NM_022455.5	NP_071900.2:p.(Ala2546Thr)	NC_000005.9:g.176722005G>A	(Likely) benign	4 labs	85c5d07266
12:110221544 TRPV4 T>C	12	110221544	110221544	T	C	TRPV4	c.2498A>G	NM_021625.5	NP_067638.3:p.(Asn833Ser)	NC_000012.11:g.110221544T>C	(Likely) benign	3 labs	85ef32374e
2:179430060 TTN G>T	2	179430060	179430060	G	T	TTN	c.80799C>A	NM_001267550.2	NP_001254479.2:p.(Thr26933=)	NC_000002.11:g.179430060G>T	(Likely) benign	4 labs	860a6f2635
14:75514489 MLH3 C>G	14	75514489	75514489	C	G	MLH3	c.1870G>C	NM_001040108.2	NP_001035197.1:p.(Glu624Gln)	NC_000014.8:g.75514489C>G	(Likely) benign	3 labs	8613bd05ee
2:179550287 TTN G>C	2	179550287	179550287	G	C	TTN	c.32350C>G	NM_001267550.2	NP_001254479.2:p.(Leu10784Val)	NC_000002.11:g.179550287G>C	(Likely) benign	6 labs	862f510edb
7:6017324 PMS2 G>A	7	6017324	6017324	G	A	PMS2	c.2340C>T	NM_000535.7	NP_000526.2:p.(Pro780=)	NC_000007.13:g.6017324G>A	(Likely) benign	5 labs	865144a42b
2:179642589 TTN C>G	2	179642589	179642589	C	G	TTN	c.4322G>C	NM_001267550.2	NP_001254479.2:p.(Arg1441Pro)	NC_000002.11:g.179642589C>G	(Likely) benign	6 labs	8661352540
13:110859069 COL4A1 G>T	13	110859069	110859069	G	T	COL4A1	c.808-7C>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110859069G>T	(Likely) benign	2 labs	873c9b59b2
12:133219072 POLE A>AACG	12	133219072	133219077	A	AACG	POLE	c.4952+17_4952+19dup	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133219075_133219077dup	(Likely) benign	3 labs	866524662b
3:37092021 MLH1 G>GGAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA	3	37092021	37092068	G	GGAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA	MLH1	c.2149_2195dup	NM_000249.4	NP_000240.1:p.(His733AsnfsTer66)	NC_000003.11:g.37092022_37092068dup	(Likely) pathogenic	2 labs	86840fde78
16:75688314 TERF2IP C>A	16	75688314	75688314	C	A	TERF2IP	c.795+19C>A	NM_018975.4	NP_061848.2:p.?	NC_000016.9:g.75688314C>A	(Likely) benign	2 labs	86b71bf5a1
17:63530163 AXIN2 C>T	17	63530163	63530163	C	T	AXIN2	c.2272G>A	NM_004655.4	NP_004646.3:p.(Ala758Thr)	NC_000017.10:g.63530163C>T	(Likely) benign	4 labs	86c3da7eb9
8:144994044 PLEC G>A	8	144994044	144994044	G	A	PLEC	c.9945C>T	NM_201384.3	NP_958786.1:p.(Ser3315=)	NC_000008.10:g.144994044G>A	(Likely) benign	2 labs	86dd7a1c8c
2:47656871 MSH2 T>C	2	47656871	47656871	T	C	MSH2	c.1077-10T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47656871T>C	(Likely) benign	6 labs	86e4e058ea
1:22161394 HSPG2 C>T	1	22161394	22161394	C	T	HSPG2	c.10498G>A	NM_005529.7	NP_005520.4:p.(Val3500Met)	NC_000001.10:g.22161394C>T	(Likely) benign	3 labs	8706c91e28
X:17394084 NHS ACCG>A	X	17394084	17394098	ACCG	A	NHS	c.216_218del	NM_001291867.2	NP_001278796.1:p.(Pro73del)	NC_000023.10:g.17394096_17394098del	(Likely) benign	2 labs	870c39a354
2:48030645 MSH6 C>T	2	48030645	48030645	C	T	MSH6	c.3259C>T	NM_000179.3	NP_000170.1:p.(Pro1087Ser)	NC_000002.11:g.48030645C>T	(Likely) benign	3 labs	871c751516
16:8905010 PMM2 G>A	16	8905010	8905010	G	A	PMM2	c.422G>A	NM_000303.3	NP_000294.1:p.(Arg141His)	NC_000016.9:g.8905010G>A	(Likely) pathogenic	6 labs	872f0d6b86
19:36341311 NPHS1 T>A	19	36341311	36341311	T	A	NPHS1	c.563A>T	NM_004646.4	NP_004637.1:p.(Asn188Ile)	NC_000019.9:g.36341311T>A	(Likely) benign	3 labs	8771f3ee6c
9:108397495 FKTN A>G	9	108397495	108397495	A	G	FKTN	c.1336A>G	NM_001079802.2	NP_001073270.1:p.(Asn446Asp)	NC_000009.11:g.108397495A>G	(Likely) benign	5 labs	877da21efc
7:6043673 PMS2 G>C	7	6043673	6043673	G	C	PMS2	c.180C>G	NM_000535.7	NP_000526.2:p.(Asp60Glu)	NC_000007.13:g.6043673G>C	(Likely) benign	2 labs	87831416ad
20:62038087 KCNQ2 G>A	20	62038087	62038087	G	A	KCNQ2	c.2529C>T	NM_172107.4	NP_742105.1:p.(Ser843=)	NC_000020.10:g.62038087G>A	(Likely) benign	2 labs	87a7681d2a
3:8787373 CAV3 C>T	3	8787373	8787373	C	T	CAV3	c.276C>T	NM_033337.3	NP_203123.1:p.(Phe92=)	NC_000003.11:g.8787373C>T	(Likely) benign	5 labs	87b0efb871
1:45293709 PTCH2 G>A	1	45293709	45293709	G	A	PTCH2	c.1864C>T	NM_003738.5	NP_003729.3:p.(His622Tyr)	NC_000001.10:g.45293709G>A	(Likely) benign	2 labs	87b2cb899c
2:152364589 NEB G>A	2	152364589	152364589	G	A	NEB	c.23381C>T	NM_001164508.2	NP_001157980.2:p.(Ser7794Leu)	NC_000002.11:g.152364589G>A	(Likely) benign	2 labs	87b8780a44
9:130578280 ENG A>G	9	130578280	130578280	A	G	ENG	c.1794T>C	NM_001114753.3	NP_001108225.1:p.(Gly598=)	NC_000009.11:g.130578280A>G	(Likely) benign	3 labs	87d449c39a
X:47774599 ZNF81 C>T	X	47774599	47774599	C	T	ZNF81	c.554C>T	NM_007137.5	NP_009068.2:p.(Ser185Leu)	NC_000023.10:g.47774599C>T	(Likely) benign	2 labs	87ddf139a9
9:134395574 POMT1 G>A	9	134395574	134395574	G	A	POMT1	c.1692G>A	NM_001077365.2	NP_001070833.1:p.(Arg564=)	NC_000009.11:g.134395574G>A	(Likely) benign	3 labs	87e3c0a416
17:41226488 BRCA1 C>A	17	41226488	41226488	C	A	BRCA1	c.4535G>T	NM_007294.4	NP_009225.1:p.(Ser1512Ile)	NC_000017.10:g.41226488C>A	(Likely) benign	6 labs	8833404a40
2:179623772 TTN G>A	2	179623772	179623772	G	A	TTN	c.10242C>T	NM_001267550.2	NP_001254479.2:p.(Tyr3414=)	NC_000002.11:g.179623772G>A	(Likely) benign	6 labs	88a09bdadc
X:148578002 IDS C>T	X	148578002	148578002	C	T	IDS	c.754G>A	NM_000202.8	NP_000193.1:p.(Asp252Asn)	NC_000023.10:g.148578002C>T	(Likely) benign	5 labs	88b943223f
2:179404402 TTN T>C	2	179404402	179404402	T	C	TTN	c.98390A>G	NM_001267550.2	NP_001254479.2:p.(Asn32797Ser)	NC_000002.11:g.179404402T>C	(Likely) benign	6 labs	88cad163e0
1:218520315 TGFB2 G>A	1	218520315	218520315	G	A	TGFB2	c.272G>A	NM_003238.6	NP_003229.1:p.(Arg91His)	NC_000001.10:g.218520315G>A	(Likely) benign	3 labs	88dc612e1e
1:17380491 SDHB G>A	1	17380491	17380491	G	A	SDHB	c.24C>T	NM_003000.3	NP_002991.2:p.(Ser8=)	NC_000001.10:g.17380491G>A	(Likely) benign	4 labs	88e0ad8030
2:179428061 TTN C>T	2	179428061	179428061	C	T	TTN	c.82798G>A	NM_001267550.2	NP_001254479.2:p.(Ala27600Thr)	NC_000002.11:g.179428061C>T	(Likely) benign	4 labs	88e292b7cf
19:13419212 CACNA1A G>T	19	13419212	13419212	G	T	CACNA1A	c.1781+18C>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13419212G>T	(Likely) benign	2 labs	88e36d6c6b
2:179417633 TTN C>T	2	179417633	179417633	C	T	TTN	c.89994G>A	NM_001267550.2	NP_001254479.2:p.(Ser29998=)	NC_000002.11:g.179417633C>T	(Likely) benign	5 labs	88f8c80133
2:179474466 TTN C>T	2	179474466	179474466	C	T	TTN	c.51684G>A	NM_001267550.2	NP_001254479.2:p.(Ala17228=)	NC_000002.11:g.179474466C>T	(Likely) benign	4 labs	8904d921d4
7:6026607 PMS2 T>A	7	6026607	6026607	T	A	PMS2	c.1789A>T	NM_000535.7	NP_000526.2:p.(Thr597Ser)	NC_000007.13:g.6026607T>A	(Likely) benign	5 labs	891270a19b
19:49481243 GYS1 T>C	19	49481243	49481243	T	C	GYS1	c.1246A>G	NM_002103.5	NP_002094.2:p.(Met416Val)	NC_000019.9:g.49481243T>C	(Likely) benign	2 labs	891bb71deb
12:21958998 ABCC9 CA>C	12	21958998	21959010	CA	C	ABCC9	c.4450-5del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21959010del	(Likely) benign	3 labs	893a1c3293
17:46805705 HOXB13 C>T	17	46805705	46805705	C	T	HOXB13	c.251G>A	NM_006361.5	NP_006352.2:p.(Gly84Glu)	NC_000017.10:g.46805705C>T	(Likely) pathogenic	5 labs	89631e4a65
19:50920535 POLD1 C>T	19	50920535	50920535	C	T	POLD1	c.3218+9C>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50920535C>T	(Likely) benign	2 labs	8977904b70
13:32912626 BRCA2 T>C	13	32912626	32912626	T	C	BRCA2	c.4134T>C	NM_000059.4	NP_000050.3:p.(Thr1378=)	NC_000013.10:g.32912626T>C	(Likely) benign	2 labs	8984ca00de
11:108115587 ATM C>T	11	108115587	108115587	C	T	ATM	c.735C>T	NM_000051.4	NP_000042.3:p.(Val245=)	NC_000011.9:g.108115587C>T	(Likely) benign	4 labs	899400146d
9:139400219 NOTCH1 G>A	9	139400219	139400219	G	A	NOTCH1	c.4129C>T	NM_017617.5	NP_060087.3:p.(Pro1377Ser)	NC_000009.11:g.139400219G>A	(Likely) benign	5 labs	89add7bccc
2:179431076 TTN C>G	2	179431076	179431076	C	G	TTN	c.79783G>C	NM_001267550.2	NP_001254479.2:p.(Asp26595His)	NC_000002.11:g.179431076C>G	(Likely) benign	6 labs	89bea77546
9:97897624 FANCC G>A	9	97897624	97897624	G	A	FANCC	c.843+4C>T	NM_000136.3	NP_000127.2:p.?	NC_000009.11:g.97897624G>A	(Likely) benign	3 labs	8a068a98f4
11:47370045 MYBPC3 A>AGTGAAGGCAGGCTGGGCATCGGTGAT	11	47370045	47370074	A	AGTGAAGGCAGGCTGGGCATCGGTGAT	MYBPC3	c.676_701dup	NM_000256.3	NP_000247.2:p.(Gly235SerfsTer74)	NC_000011.9:g.47370049_47370074dup	(Likely) pathogenic	4 labs	8a185d855e
13:32968810 BRCA2 T>C	13	32968810	32968810	T	C	BRCA2	c.9257-16T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32968810T>C	(Likely) benign	7 labs	8a28fa287e
9:35793924 NPR2 C>T	9	35793924	35793924	C	T	NPR2	c.697C>T	NM_003995.4	NP_003986.2:p.(Leu233=)	NC_000009.11:g.35793924C>T	(Likely) benign	2 labs	8a48cf63ef
19:15290236 NOTCH3 G>T	19	15290236	15290236	G	T	NOTCH3	c.3399C>A	NM_000435.3	NP_000426.2:p.(His1133Gln)	NC_000019.9:g.15290236G>T	(Likely) benign	3 labs	8a875185ba
3:10106515 FANCD2 T>C	3	10106515	10106515	T	C	FANCD2	c.2124T>C	NM_001018115.3	NP_001018125.1:p.(Phe708=)	NC_000003.11:g.10106515T>C	(Likely) benign	2 labs	8b12b4d8f9
7:6045634 PMS2 T>C	7	6045634	6045634	T	C	PMS2	c.52A>G	NM_000535.7	NP_000526.2:p.(Ile18Val)	NC_000007.13:g.6045634T>C	(Likely) benign	6 labs	8b193c9868
1:235918870 LYST T>G	1	235918870	235918870	T	G	LYST	c.7137A>C	NM_000081.4	NP_000072.2:p.(Leu2379=)	NC_000001.10:g.235918870T>G	(Likely) benign	2 labs	8b34361149
2:47643457 MSH2 G>A	2	47643457	47643457	G	A	MSH2	c.965G>A	NM_000251.3	NP_000242.1:p.(Gly322Asp)	NC_000002.11:g.47643457G>A	(Likely) benign	6 labs	8b35975542
22:36681163 MYH9 G>C	22	36681163	36681163	G	C	MYH9	c.5483+4C>G	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36681163G>C	(Likely) benign	2 labs	8b7778573e
7:128485240 FLNC C>T	7	128485240	128485240	C	T	FLNC	c.3721C>T	NM_001458.5	NP_001449.3:p.(Arg1241Cys)	NC_000007.13:g.128485240C>T	(Likely) benign	3 labs	8ba4560010
2:179659110 TTN G>A	2	179659110	179659110	G	A	TTN	c.1398+16C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659110G>A	(Likely) benign	4 labs	8bbb25be12
13:110807612 COL4A1 G>A	13	110807612	110807612	G	A	COL4A1	c.4755+18C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110807612G>A	(Likely) benign	2 labs	8bc3259d9e
2:238296355 COL6A3 G>A	2	238296355	238296355	G	A	COL6A3	c.1182C>T	NM_004369.4	NP_004360.2:p.(Thr394=)	NC_000002.11:g.238296355G>A	(Likely) benign	2 labs	8bcd5fd781
15:99456369 IGF1R G>A	15	99456369	99456369	G	A	IGF1R	c.1686G>A	NM_000875.5	NP_000866.1:p.(Val562=)	NC_000015.9:g.99456369G>A	(Likely) benign	2 labs	8c0034b526
17:40353768 STAT5B G>A	17	40353768	40353768	G	A	STAT5B	c.2352C>T	NM_012448.4	NP_036580.2:p.(His784=)	NC_000017.10:g.40353768G>A	(Likely) benign	3 labs	8c3aa13477
16:14042108 ERCC4 G>A	16	14042108	14042108	G	A	ERCC4	c.2655G>A	NM_005236.3	NP_005227.1:p.(Thr885=)	NC_000016.9:g.14042108G>A	(Likely) benign	2 labs	8c42ca679b
16:31473275 ARMC5 A>G	16	31473275	31473275	A	G	ARMC5	c.508A>G	NM_001105247.2	NP_001098717.1:p.(Ile170Val)	NC_000016.9:g.31473275A>G	(Likely) benign	2 labs	8dbdebc71a
3:78717171 ROBO1 C>T	3	78717171	78717171	C	T	ROBO1	c.1828G>A	NM_002941.4	NP_002932.1:p.(Val610Ile)	NC_000003.11:g.78717171C>T	(Likely) benign	3 labs	8c65ab08a7
11:103019260 DYNC2H1 G>A	11	103019260	103019260	G	A	DYNC2H1	c.2860G>A	NM_001377.3	NP_001368.2:p.(Glu954Lys)	NC_000011.9:g.103019260G>A	(Likely) benign	2 labs	8cc25b6895
3:58112497 FLNB A>G	3	58112497	58112497	A	G	FLNB	c.4222+8A>G	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58112497A>G	(Likely) benign	3 labs	8ccf933d30
20:42745033 JPH2 G>A	20	42745033	42745033	G	A	JPH2	c.1289-7C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42745033G>A	(Likely) benign	5 labs	8d399b2d91
12:115112586 TBX3 T>C	12	115112586	115112586	T	C	TBX3	c.1094A>G	NM_005996.4	NP_005987.3:p.(His365Arg)	NC_000012.11:g.115112586T>C	(Likely) benign	3 labs	8d559155d9
8:144995939 PLEC G>A	8	144995939	144995939	G	A	PLEC	c.8050C>T	NM_201384.3	NP_958786.1:p.(Arg2684Trp)	NC_000008.10:g.144995939G>A	(Likely) benign	2 labs	8db5febcf4
11:17408496 KCNJ11 C>T	11	17408496	17408496	C	T	KCNJ11	c.1143G>A	NM_000525.4	NP_000516.3:p.(Lys381=)	NC_000011.9:g.17408496C>T	(Likely) benign	2 labs	8dbac75e95
14:75017900 LTBP2 C>A	14	75017900	75017900	C	A	LTBP2	c.1553G>T	NM_000428.3	NP_000419.1:p.(Ser518Ile)	NC_000014.8:g.75017900C>A	(Likely) benign	2 labs	8dc973558d
1:22168855 HSPG2 G>A	1	22168855	22168855	G	A	HSPG2	c.8929C>T	NM_005529.7	NP_005520.4:p.(Arg2977Trp)	NC_000001.10:g.22168855G>A	(Likely) benign	2 labs	8dd47182da
22:51121773 SHANK3 C>T	22	51121773	51121773	C	T	SHANK3	c.1116C>T	NM_001372044.2	NP_001358973.1:p.(Ser372=)	NC_000022.10:g.51121773C>T	(Likely) benign	2 labs	8e097887ec
X:153009141 ABCD1 G>A	X	153009141	153009141	G	A	ABCD1	c.2190G>A	NM_000033.4	NP_000024.2:p.(Pro730=)	NC_000023.10:g.153009141G>A	(Likely) benign	2 labs	8e26f1ddd1
3:37042541 MLH1 T>G	3	37042541	37042541	T	G	MLH1	c.303T>G	NM_000249.4	NP_000240.1:p.(Gly101=)	NC_000003.11:g.37042541T>G	(Likely) benign	4 labs	8e41bddbab
9:108363420 FKTN A>G	9	108363420	108363420	A	G	FKTN	c.166-6A>G	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108363420A>G	(Likely) benign	3 labs	8e44b5e312
3:15686693 BTD G>C	3	15686693	15686693	G	C	BTD	c.1270G>C	NM_001370658.1	NP_001357587.1:p.(Asp424His)	NC_000003.11:g.15686693G>C	(Likely) pathogenic	6 labs	8e4f8a8cdc
15:64050467 HERC1 A>G	15	64050467	64050467	A	G	HERC1	c.1128T>C	NM_003922.4	NP_003913.3:p.(Val376=)	NC_000015.9:g.64050467A>G	(Likely) benign	2 labs	8e7b71b53d
4:88584318 DMP1 A>G	4	88584318	88584318	A	G	DMP1	c.1388A>G	NM_004407.4	NP_004398.1:p.(Lys463Arg)	NC_000004.11:g.88584318A>G	(Likely) benign	2 labs	8e7cb97900
2:152584315 NEB ATGCTGGCTGTGCCAG>A	2	152584315	152584345	ATGCTGGCTGTGCCAG	A	NEB	c.169_183del	NM_001164508.2	NP_001157980.2:p.(Leu57_Ala61del)	NC_000002.11:g.152584331_152584345del	(Likely) benign	2 labs	8e7de70f68
20:10639222 JAG1 G>A	20	10639222	10639222	G	A	JAG1	c.588C>T	NM_000214.3	NP_000205.1:p.(Cys196=)	NC_000020.10:g.10639222G>A	(Likely) benign	5 labs	8e8db819f9
15:99459313 IGF1R G>A	15	99459313	99459313	G	A	IGF1R	c.1949G>A	NM_000875.5	NP_000866.1:p.(Arg650Gln)	NC_000015.9:g.99459313G>A	(Likely) benign	2 labs	8f009863c0
1:201043627 CACNA1S C>A	1	201043627	201043627	C	A	CACNA1S	c.2063+7G>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201043627C>A	(Likely) benign	3 labs	8f1cc27fb9
3:142281298 ATR C>T	3	142281298	142281298	C	T	ATR	c.946G>A	NM_001184.4	NP_001175.2:p.(Val316Ile)	NC_000003.11:g.142281298C>T	(Likely) benign	2 labs	8f362eb65e
17:41228491 BRCA1 T>C	17	41228491	41228491	T	C	BRCA1	c.4484+14A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41228491T>C	(Likely) benign	5 labs	8f428a3b86
2:179611809 TTN A>ATATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	2	179611809	179611846	A	ATATCGCTCTAGAGTCTCTCCTGGGGGTGTGGAG	TTN	c.11312-5194_11312-5162dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611814_179611846dup	(Likely) benign	6 labs	8f789edaf0
2:47637246 MSH2 A>G	2	47637246	47637246	A	G	MSH2	c.380A>G	NM_000251.3	NP_000242.1:p.(Asn127Ser)	NC_000002.11:g.47637246A>G	(Likely) benign	5 labs	8fa010ef36
8:11566169 GATA4 C>T	8	11566169	11566169	C	T	GATA4	c.348C>T	NM_001308093.3	NP_001295022.1:p.(Ser116=)	NC_000008.10:g.11566169C>T	(Likely) benign	5 labs	8fa732c7b0
12:133244242 POLE C>T	12	133244242	133244242	C	T	POLE	c.2174-8G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133244242C>T	(Likely) benign	2 labs	8fa90bfe7e
19:7117083 INSR C>T	19	7117083	7117083	C	T	INSR	c.4133G>A	NM_000208.4	NP_000199.2:p.(Arg1378Gln)	NC_000019.9:g.7117083C>T	VUS	2 labs	8fb76b2d08
17:76129930 TMC8 G>C	17	76129930	76129930	G	C	TMC8	c.669-4G>C	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76129930G>C	(Likely) benign	2 labs	8fe134d084
2:179410666 TTN G>A	2	179410666	179410666	G	A	TTN	c.95297C>T	NM_001267550.2	NP_001254479.2:p.(Ser31766Phe)	NC_000002.11:g.179410666G>A	(Likely) benign	6 labs	8fe8ba1e9d
2:179567230 TTN A>G	2	179567230	179567230	A	G	TTN	c.30384T>C	NM_001267550.2	NP_001254479.2:p.(Asp10128=)	NC_000002.11:g.179567230A>G	(Likely) benign	5 labs	8fee79ffbe
1:173797447 DARS2 CT>C	1	173797447	173797451	CT	C	DARS2	c.228-20del	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797451del	(Likely) benign	2 labs	8ff5b3b6fc
14:23891481 MYH7 C>T	14	23891481	23891481	C	T	MYH7	c.3153G>A	NM_000257.4	NP_000248.2:p.(Ala1051=)	NC_000014.8:g.23891481C>T	(Likely) benign	6 labs	90026ec9be
10:89690828 PTEN G>A	10	89690828	89690828	G	A	PTEN	c.235G>A	NM_000314.8	NP_000305.3:p.(Ala79Thr)	NC_000010.10:g.89690828G>A	(Likely) benign	3 labs	901aa84507
17:8138427 CTC1 C>T	17	8138427	8138427	C	T	CTC1	c.1383G>A	NM_025099.6	NP_079375.3:p.(Gln461=)	NC_000017.10:g.8138427C>T	(Likely) benign	2 labs	903d7ab5c2
9:3828379 GLIS3 G>A	9	3828379	3828379	G	A	GLIS3	c.2686C>T	NM_001042413.2	NP_001035878.1:p.(Leu896Phe)	NC_000009.11:g.3828379G>A	(Likely) benign	2 labs	905b2c2fe0
19:36398414 TYROBP C>A	19	36398414	36398414	C	A	TYROBP	c.163G>T	NM_003332.4	NP_003323.1:p.(Val55Leu)	NC_000019.9:g.36398414C>A	(Likely) benign	2 labs	9064f6de88
2:215595221 BARD1 A>G	2	215595221	215595221	A	G	BARD1	c.1915T>C	NM_000465.4	NP_000456.2:p.(Cys639Arg)	NC_000002.11:g.215595221A>G	VUS	3 labs	909ac67fc4
16:2158680 PKD1 C>T	16	2158680	2158680	C	T	PKD1	c.6488G>A	NM_001009944.3	NP_001009944.3:p.(Arg2163Gln)	NC_000016.9:g.2158680C>T	(Likely) benign	3 labs	90b0e9de48
16:2134492 TSC2 G>A	16	2134492	2134492	G	A	TSC2	c.4269G>A	NM_000548.5	NP_000539.2:p.(Leu1423=)	NC_000016.9:g.2134492G>A	(Likely) benign	5 labs	911aff1fa0
3:150690347 CLRN1 G>GGACA	3	150690347	150690348	G	GGACA	CLRN1	c.148_149insTGTC	NM_174878.3	NP_777367.1:p.(Ser50LeufsTer12)	NC_000003.11:g.150690347_150690348insGACA	(Likely) pathogenic	2 labs	911e12aaf1
5:240607 SDHA C>T	5	240607	240607	C	T	SDHA	c.1551+16C>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.240607C>T	(Likely) benign	4 labs	911f13869d
3:81698005 GBE1 A>G	3	81698005	81698005	A	G	GBE1	c.691+2T>C	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81698005A>G	(Likely) pathogenic	6 labs	9140e6b77d
9:98011506 FANCC TC>T	9	98011506	98011509	TC	T	FANCC	c.67del	NM_000136.3	NP_000127.2:p.(Asp23IlefsTer23)	NC_000009.11:g.98011509del	(Likely) pathogenic	3 labs	9152f16227
2:179579256 TTN C>T	2	179579256	179579256	C	T	TTN	c.26245G>A	NM_001267550.2	NP_001254479.2:p.(Val8749Ile)	NC_000002.11:g.179579256C>T	(Likely) benign	4 labs	916a4bcbed
19:15272378 NOTCH3 C>T	19	15272378	15272378	C	T	NOTCH3	c.6061G>A	NM_000435.3	NP_000426.2:p.(Val2021Met)	NC_000019.9:g.15272378C>T	VUS	2 labs	91854c67e7
17:41256153 BRCA1 C>A	17	41256153	41256153	C	A	BRCA1	c.427G>T	NM_007294.4	NP_009225.1:p.(Glu143Ter)	NC_000017.10:g.41256153C>A	(Likely) pathogenic	3 labs	9199bff3c8
2:47703654 MSH2 A>G	2	47703654	47703654	A	G	MSH2	c.2154A>G	NM_000251.3	NP_000242.1:p.(Gln718=)	NC_000002.11:g.47703654A>G	(Likely) benign	4 labs	91a6be856d
19:33792748 CEBPA G>A	19	33792748	33792748	G	A	CEBPA	c.573C>T	NM_004364.5	NP_004355.2:p.(His191=)	NC_000019.9:g.33792748G>A	(Likely) benign	3 labs	91c4ec3ea4
2:122288463 RNU4ATAC C>T	2	122288463	122288463	C	T	RNU4ATAC	n.8C>T	NR_023343.1		NC_000002.11:g.122288463C>T	(Likely) pathogenic	2 labs	921b0fb95a
12:21958185 ABCC9 CTA>C	12	21958185	21958187	CTA	C	ABCC9	c.4512+745_4512+746del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21958186_21958187del	VUS	4 labs	922ce92d71
8:144998868 PLEC C>T	8	144998868	144998868	C	T	PLEC	c.5229G>A	NM_201384.3	NP_958786.1:p.(Ala1743=)	NC_000008.10:g.144998868C>T	(Likely) benign	2 labs	9236071afc
19:8670147 ADAMTS10 C>T	19	8670147	8670147	C	T	ADAMTS10	c.185G>A	NM_030957.4	NP_112219.3:p.(Arg62Gln)	NC_000019.9:g.8670147C>T	(Likely) benign	2 labs	9240c41a74
19:11098596 SMARCA4 T>C	19	11098596	11098596	T	C	SMARCA4	c.1114T>C	NM_003072.5	NP_003063.2:p.(Tyr372His)	NC_000019.9:g.11098596T>C	(Likely) benign	2 labs	925cc0567e
2:179438754 TTN A>G	2	179438754	179438754	A	G	TTN	c.72105T>C	NM_001267550.2	NP_001254479.2:p.(Phe24035=)	NC_000002.11:g.179438754A>G	(Likely) benign	4 labs	926099398c
1:22181483 HSPG2 T>C	1	22181483	22181483	T	C	HSPG2	c.5998-7A>G	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22181483T>C	(Likely) benign	2 labs	927a2de611
11:108121733 ATM G>A	11	108121733	108121733	G	A	ATM	c.1541G>A	NM_000051.4	NP_000042.3:p.(Gly514Asp)	NC_000011.9:g.108121733G>A	(Likely) benign	5 labs	92ac1858c3
6:43581935 POLH A>G	6	43581935	43581935	A	G	POLH	c.1783A>G	NM_006502.3	NP_006493.1:p.(Met595Val)	NC_000006.11:g.43581935A>G	(Likely) benign	2 labs	92ae76c327
8:145003893 PLEC G>A	8	145003893	145003893	G	A	PLEC	c.2844C>T	NM_201384.3	NP_958786.1:p.(Pro948=)	NC_000008.10:g.145003893G>A	(Likely) benign	3 labs	92b7f4657d
1:241663902 FH T>TGAGAGAGAGA	1	241663902	241663940	T	TGAGAGAGAGA	FH	c.1237-22_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663931_241663940dup	(Likely) benign	2 labs	92c9a0b085
21:47852049 PCNT G>A	21	47852049	47852049	G	A	PCNT	c.8671G>A	NM_006031.6	NP_006022.3:p.(Ala2891Thr)	NC_000021.8:g.47852049G>A	(Likely) benign	3 labs	933f4a1496
2:48028026 MSH6 C>G	2	48028026	48028026	C	G	MSH6	c.2904C>G	NM_000179.3	NP_000170.1:p.(Val968=)	NC_000002.11:g.48028026C>G	(Likely) benign	2 labs	934e79cc81
17:41256277 BRCA1 A>G	17	41256277	41256277	A	G	BRCA1	c.303T>C	NM_007294.4	NP_009225.1:p.(Tyr101=)	NC_000017.10:g.41256277A>G	(Likely) benign	2 labs	935e23a6a7
7:19156685 TWIST1 G>GCGC	7	19156685	19156701	G	GCGC	TWIST1	c.257_259dup	NM_000474.4	NP_000465.1:p.(Gly86dup)	NC_000007.13:g.19156699_19156701dup	(Likely) benign	2 labs	936530b9da
1:45797228 MUTYH C>T	1	45797228	45797228	C	T	MUTYH	c.1187G>A	NM_001128425.2	NP_001121897.1:p.(Gly396Asp)	NC_000001.10:g.45797228C>T	(Likely) pathogenic	7 labs	9365f10f8d
5:256483 SDHA CTT>C	5	256483	256486	CTT	C	SDHA	c.1945_1946del	NM_004168.4	NP_004159.2:p.(Leu649GlufsTer4)	NC_000005.9:g.256485_256486del	(Likely) benign	4 labs	936c96f6b3
2:219677022 CYP27A1 C>T	2	219677022	219677022	C	T	CYP27A1	c.524C>T	NM_000784.4	NP_000775.1:p.(Thr175Met)	NC_000002.11:g.219677022C>T	(Likely) benign	3 labs	938d8fd158
2:179449131 TTN G>A	2	179449131	179449131	G	A	TTN	c.65147C>T	NM_001267550.2	NP_001254479.2:p.(Ser21716Leu)	NC_000002.11:g.179449131G>A	(Likely) benign	6 labs	93a3cb19b5
9:98229390 PTCH1 C>T	9	98229390	98229390	C	T	PTCH1	c.2560+8G>A	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98229390C>T	(Likely) benign	2 labs	93af1527aa
14:23900093 MYH7 C>T	14	23900093	23900093	C	T	MYH7	c.895+17G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900093C>T	(Likely) benign	5 labs	93be914c86
1:22181360 HSPG2 G>C	1	22181360	22181360	G	C	HSPG2	c.6114C>G	NM_005529.7	NP_005520.4:p.(Ile2038Met)	NC_000001.10:g.22181360G>C	(Likely) benign	2 labs	93f10b2ebb
X:153581402 FLNA G>A	X	153581402	153581402	G	A	FLNA	c.6193C>T	NM_001110556.2	NP_001104026.1:p.(Pro2065Ser)	NC_000023.10:g.153581402G>A	VUS	2 labs	9409caad69
2:179613519 TTN G>A	2	179613519	179613519	G	A	TTN	c.11311+4332C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613519G>A	(Likely) benign	4 labs	9463fa5970
7:128498517 FLNC C>T	7	128498517	128498517	C	T	FLNC	c.8118C>T	NM_001458.5	NP_001449.3:p.(Leu2706=)	NC_000007.13:g.128498517C>T	(Likely) benign	3 labs	946ac8f6c1
19:8670115 ADAMTS10 C>T	19	8670115	8670115	C	T	ADAMTS10	c.217G>A	NM_030957.4	NP_112219.3:p.(Glu73Lys)	NC_000019.9:g.8670115C>T	(Likely) benign	2 labs	94745c59a4
2:179628918 TTN C>T	2	179628918	179628918	C	T	TTN	c.10100G>A	NM_001267550.2	NP_001254479.2:p.(Arg3367Gln)	NC_000002.11:g.179628918C>T	(Likely) benign	5 labs	94750eeeed
7:143043304 CLCN1 G>A	7	143043304	143043304	G	A	CLCN1	c.2244G>A	NM_000083.3	NP_000074.3:p.(Leu748=)	NC_000007.13:g.143043304G>A	(Likely) benign	2 labs	94818c0452
1:93297677 RPL5 G>C	1	93297677	93297677	G	C	RPL5	c.3+3G>C	NM_000969.5	NP_000960.2:p.?	NC_000001.10:g.93297677G>C	(Likely) benign	3 labs	94a0c2779e
17:63533919 AXIN2 T>C	17	63533919	63533919	T	C	AXIN2	c.1235A>G	NM_004655.4	NP_004646.3:p.(Asn412Ser)	NC_000017.10:g.63533919T>C	(Likely) benign	4 labs	94b0e47923
16:2169319 PKD1 C>T	16	2169319	2169319	C	T	PKD1	c.276G>A	NM_001009944.3	NP_001009944.3:p.(Ala92=)	NC_000016.9:g.2169319C>T	(Likely) benign	2 labs	94eda7fbdc
19:15298136 NOTCH3 C>A	19	15298136	15298136	C	A	NOTCH3	c.1620G>T	NM_000435.3	NP_000426.2:p.(Thr540=)	NC_000019.9:g.15298136C>A	(Likely) benign	2 labs	954b838bde
5:149433939 CSF1R G>A	5	149433939	149433939	G	A	CSF1R	c.2709C>T	NM_001288705.3	NP_001275634.1:p.(Phe903=)	NC_000005.9:g.149433939G>A	(Likely) benign	2 labs	955661566f
3:14214524 XPC G>A	3	14214524	14214524	G	A	XPC	c.142C>T	NM_004628.5	NP_004619.3:p.(Leu48Phe)	NC_000003.11:g.14214524G>A	(Likely) benign	2 labs	9557157aec
19:15273335 NOTCH3 C>T	19	15273335	15273335	C	T	NOTCH3	c.5854G>A	NM_000435.3	NP_000426.2:p.(Val1952Met)	NC_000019.9:g.15273335C>T	(Likely) benign	3 labs	958d3dcd75
7:92731759 SAMD9 C>CA	7	92731759	92731766	C	CA	SAMD9	c.3651dup	NM_017654.4	NP_060124.2:p.(Asp1218Ter)	NC_000007.13:g.92731766dup	(Likely) benign	3 labs	95c9cc7e20
2:233199346 DIS3L2 T>C	2	233199346	233199346	T	C	DIS3L2	c.2295T>C	NM_152383.5	NP_689596.4:p.(Ser765=)	NC_000002.11:g.233199346T>C	(Likely) benign	2 labs	95d9ba6be7
11:108183206 ATM A>G	11	108183206	108183206	A	G	ATM	c.5987A>G	NM_000051.4	NP_000042.3:p.(Glu1996Gly)	NC_000011.9:g.108183206A>G	VUS	2 labs	95e4210973
X:53430830 SMC1A A>G	X	53430830	53430830	A	G	SMC1A	c.2197-5T>C	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53430830A>G	(Likely) benign	2 labs	95ed143c2c
16:51175655 SALL1 CGCT>C	16	51175655	51175685	CGCT	C	SALL1	c.475_477del	NM_002968.3	NP_002959.2:p.(Ser159del)	NC_000016.9:g.51175683_51175685del	(Likely) benign	4 labs	95fbfc688d
2:179435418 TTN T>C	2	179435418	179435418	T	C	TTN	c.75441A>G	NM_001267550.2	NP_001254479.2:p.(Lys25147=)	NC_000002.11:g.179435418T>C	(Likely) benign	4 labs	9609436acc
2:179575511 TTN C>T	2	179575511	179575511	C	T	TTN	c.28313G>A	NM_001267550.2	NP_001254479.2:p.(Arg9438Gln)	NC_000002.11:g.179575511C>T	(Likely) benign	5 labs	96237c0bfb
X:31496431 DMD T>A	X	31496431	31496431	T	A	DMD	c.8729A>T	NM_004006.3	NP_003997.2:p.(Glu2910Val)	NC_000023.10:g.31496431T>A	(Likely) benign	5 labs	968c27dbb6
15:99452143 IGF1R C>G	15	99452143	99452143	C	G	IGF1R	c.1462+15C>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99452143C>G	(Likely) benign	2 labs	96a0088426
2:179410282 TTN A>G	2	179410282	179410282	A	G	TTN	c.95555T>C	NM_001267550.2	NP_001254479.2:p.(Leu31852Pro)	NC_000002.11:g.179410282A>G	(Likely) benign	4 labs	96b935dc97
14:75497231 MLH3 G>A	14	75497231	75497231	G	A	MLH3	c.3987+15C>T	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75497231G>A	(Likely) benign	2 labs	96cae5b74b
17:8141897 CTC1 C>G	17	8141897	8141897	C	G	CTC1	c.248G>C	NM_025099.6	NP_079375.3:p.(Ser83Thr)	NC_000017.10:g.8141897C>G	(Likely) benign	4 labs	96eb233744
2:179448393 TTN G>A	2	179448393	179448393	G	A	TTN	c.65516C>T	NM_001267550.2	NP_001254479.2:p.(Ala21839Val)	NC_000002.11:g.179448393G>A	(Likely) benign	6 labs	97160976ee
9:133759686 ABL1 A>G	9	133759686	133759686	A	G	ABL1	c.2066A>G	NM_007313.2	NP_009297.2:p.(Asn689Ser)	NC_000009.11:g.133759686A>G	(Likely) benign	3 labs	97916630bf
X:6069116 NLGN4X T>C	X	6069116	6069116	T	C	NLGN4X	c.392A>G	NM_020742.4	NP_065793.1:p.(Asn131Ser)	NC_000023.10:g.6069116T>C	(Likely) benign	4 labs	97a837e3f4
2:121747544 GLI2 A>G	2	121747544	121747544	A	G	GLI2	c.4003A>G	NM_001374353.1	NP_001361282.1:p.(Met1335Val)	NC_000002.11:g.121747544A>G	(Likely) benign	3 labs	97e0299a10
17:57093035 TRIM37 C>T	17	57093035	57093035	C	T	TRIM37	c.2512G>A	NM_015294.6	NP_056109.1:p.(Val838Ile)	NC_000017.10:g.57093035C>T	(Likely) benign	2 labs	97f538d1e7
17:56811608 RAD51C C>G	17	56811608	56811608	C	G	RAD51C	c.*25C>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56811608C>G	(Likely) benign	2 labs	97f80ef7e7
11:47359044 MYBPC3 G>A	11	47359044	47359044	G	A	MYBPC3	c.2500C>T	NM_000256.3	NP_000247.2:p.(Arg834Trp)	NC_000011.9:g.47359044G>A	VUS	5 labs	9800175cc7
13:110864264 COL4A1 C>T	13	110864264	110864264	C	T	COL4A1	c.393G>A	NM_001845.6	NP_001836.3:p.(Glu131=)	NC_000013.10:g.110864264C>T	(Likely) benign	3 labs	9802d332ce
2:179476465 TTN G>A	2	179476465	179476465	G	A	TTN	c.50551+20C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179476465G>A	(Likely) benign	5 labs	9814381391
1:218607563 TGFB2 A>C	1	218607563	218607563	A	C	TGFB2	c.643+7A>C	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218607563A>C	(Likely) benign	2 labs	981e3e6a29
13:23906983 SACS G>C	13	23906983	23906983	G	C	SACS	c.11032C>G	NM_014363.6	NP_055178.3:p.(Pro3678Ala)	NC_000013.10:g.23906983G>C	(Likely) benign	2 labs	985803f492
2:47641559 MSH2 TAAAAA>T	2	47641559	47641586	TAAAAA	T	MSH2	c.942+25_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641582_47641586del	(Likely) benign	2 labs	9892dbc990
15:99442797 IGF1R C>T	15	99442797	99442797	C	T	IGF1R	c.1194C>T	NM_000875.5	NP_000866.1:p.(Ser398=)	NC_000015.9:g.99442797C>T	(Likely) benign	2 labs	9893a34558
11:17408831 KCNJ11 G>C	11	17408831	17408831	G	C	KCNJ11	c.808C>G	NM_000525.4	NP_000516.3:p.(Leu270Val)	NC_000011.9:g.17408831G>C	(Likely) benign	4 labs	98c1fc38fb
2:152440123 NEB T>A	2	152440123	152440123	T	A	NEB	c.15821A>T	NM_001164508.2	NP_001157980.2:p.(Asn5274Ile)	NC_000002.11:g.152440123T>A	(Likely) benign	3 labs	98ca646c6a
15:90174955 KIF7 C>T	15	90174955	90174955	C	T	KIF7	c.2896-14G>A	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90174955C>T	(Likely) benign	5 labs	98d4839728
5:236587 SDHA G>T	5	236587	236587	G	T	SDHA	c.1305G>T	NM_004168.4	NP_004159.2:p.(Leu435=)	NC_000005.9:g.236587G>T	(Likely) benign	3 labs	98d8911d47
14:75515693 MLH3 C>T	14	75515693	75515693	C	T	MLH3	c.666G>A	NM_001040108.2	NP_001035197.1:p.(Lys222=)	NC_000014.8:g.75515693C>T	(Likely) benign	2 labs	98f200b2a9
15:45695154 AFG2B G>T	15	45695154	45695154	G	T	AFG2B	c.527G>T	NM_024063.3	NP_076968.2:p.(Gly176Val)	NC_000015.9:g.45695154G>T	(Likely) pathogenic	3 labs	990a54084b
1:26138032 SELENON C>G	1	26138032	26138032	C	G	SELENON	c.990+6C>G	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26138032C>G	(Likely) benign	4 labs	99464114a7
9:124076208 GSN A>G	9	124076208	124076208	A	G	GSN	c.664-4A>G	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124076208A>G	(Likely) benign	2 labs	99479bd6a3
20:31368196 DNMT3B G>A	20	31368196	31368196	G	A	DNMT3B	c.67G>A	NM_006892.4	NP_008823.1:p.(Val23Ile)	NC_000020.10:g.31368196G>A	(Likely) benign	2 labs	99b65b4814
5:112178795 APC G>A	5	112178795	112178795	G	A	APC	c.7504G>A	NM_000038.6	NP_000029.2:p.(Gly2502Ser)	NC_000005.9:g.112178795G>A	(Likely) benign	4 labs	99c8992e93
16:2112558 TSC2 G>A	16	2112558	2112558	G	A	TSC2	c.1318G>A	NM_000548.5	NP_000539.2:p.(Gly440Ser)	NC_000016.9:g.2112558G>A	(Likely) benign	4 labs	99e08af564
1:241667523 FH C>T	1	241667523	241667523	C	T	FH	c.927G>A	NM_000143.4	NP_000134.2:p.(Pro309=)	NC_000001.10:g.241667523C>T	(Likely) benign	5 labs	9a71b2b60d
12:12022496 ETV6 T>C	12	12022496	12022496	T	C	ETV6	c.602T>C	NM_001987.5	NP_001978.1:p.(Leu201Pro)	NC_000012.11:g.12022496T>C	(Likely) benign	2 labs	9a965a0492
6:51484226 PKHD1 C>T	6	51484226	51484226	C	T	PKHD1	c.11878G>A	NM_138694.4	NP_619639.3:p.(Val3960Ile)	NC_000006.11:g.51484226C>T	(Likely) benign	2 labs	9aa75fa21d
16:68853297 CDH1 G>C	16	68853297	68853297	G	C	CDH1	c.1680G>C	NM_004360.5	NP_004351.1:p.(Thr560=)	NC_000016.9:g.68853297G>C	(Likely) benign	5 labs	9ac02cd333
2:179396965 TTN T>G	2	179396965	179396965	T	G	TTN	c.104377A>C	NM_001267550.2	NP_001254479.2:p.(Met34793Leu)	NC_000002.11:g.179396965T>G	(Likely) benign	6 labs	9b1a34c8cb
11:75282820 SERPINH1 C>A	11	75282820	75282820	C	A	SERPINH1	c.955-6C>A	NM_001235.5	NP_001226.2:p.?	NC_000011.9:g.75282820C>A	(Likely) benign	2 labs	9b1bac3976
16:89838086 FANCA C>A	16	89838086	89838086	C	A	FANCA	c.2151G>T	NM_000135.4	NP_000126.2:p.(Met717Ile)	NC_000016.9:g.89838086C>A	(Likely) benign	3 labs	9b2c448008
16:3293257 MEFV C>A	16	3293257	3293257	C	A	MEFV	c.2230G>T	NM_000243.3	NP_000234.1:p.(Ala744Ser)	NC_000016.9:g.3293257C>A	VUS	5 labs	9b600deeb7
17:41243744 BRCA1 A>G	17	41243744	41243744	A	G	BRCA1	c.3804T>C	NM_007294.4	NP_009225.1:p.(Asn1268=)	NC_000017.10:g.41243744A>G	(Likely) benign	2 labs	9b655c2f50
2:47641559 MSH2 TAAAAAAAA>T	2	47641559	47641586	TAAAAAAAA	T	MSH2	c.942+22_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641579_47641586del	(Likely) benign	4 labs	9b8bc3c3d4
19:39056291 RYR1 C>T	19	39056291	39056291	C	T	RYR1	c.13317C>T	NM_000540.3	NP_000531.2:p.(Ala4439=)	NC_000019.9:g.39056291C>T	(Likely) benign	2 labs	9b9dc9b7a4
9:108363426 FKTN C>T	9	108363426	108363426	C	T	FKTN	c.166C>T	NM_001079802.2	NP_001073270.1:p.(Arg56Cys)	NC_000009.11:g.108363426C>T	(Likely) benign	3 labs	9ba5955971
6:41129207 TREM2 C>T	6	41129207	41129207	C	T	TREM2	c.185G>A	NM_018965.4	NP_061838.1:p.(Arg62His)	NC_000006.11:g.41129207C>T	(Likely) benign	3 labs	9bac8218cd
5:223684 SDHA G>A	5	223684	223684	G	A	SDHA	c.150+1G>A	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.223684G>A	(Likely) pathogenic	2 labs	9baf36f600
13:32953550 BRCA2 G>A	13	32953550	32953550	G	A	BRCA2	c.8851G>A	NM_000059.4	NP_000050.3:p.(Ala2951Thr)	NC_000013.10:g.32953550G>A	(Likely) benign	7 labs	9bbaf2ffd6
17:10433181 MYH2 C>T	17	10433181	10433181	C	T	MYH2	c.2908G>A	NM_017534.6	NP_060004.3:p.(Val970Ile)	NC_000017.10:g.10433181C>T	(Likely) benign	2 labs	9bfa908e52
8:144994656 PLEC C>T	8	144994656	144994656	C	T	PLEC	c.9333G>A	NM_201384.3	NP_958786.1:p.(Gly3111=)	NC_000008.10:g.144994656C>T	(Likely) benign	4 labs	9bfd678420
14:64564680 SYNE2 G>A	14	64564680	64564680	G	A	SYNE2	c.12122G>A	NM_182914.3	NP_878918.2:p.(Arg4041His)	NC_000014.8:g.64564680G>A	(Likely) benign	3 labs	9c0839ba98
10:89473069 PAPSS2 T>TA	10	89473069	89473091	T	TA	PAPSS2	c.381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473091dup	(Likely) benign	3 labs	9c196e55d8
7:116339642 MET G>T	7	116339642	116339642	G	T	MET	c.504G>T	NM_000245.4	NP_000236.2:p.(Glu168Asp)	NC_000007.13:g.116339642G>T	(Likely) benign	4 labs	9c3df58180
6:152640110 SYNE1 G>A	6	152640110	152640110	G	A	SYNE1	c.16277C>T	NM_182961.4	NP_892006.3:p.(Thr5426Met)	NC_000006.11:g.152640110G>A	(Likely) benign	3 labs	9c65534b99
13:103515085 ERCC5 G>C	13	103515085	103515085	G	C	ERCC5	c.1586G>C	NM_000123.4	NP_000114.3:p.(Cys529Ser)	NC_000013.10:g.103515085G>C	(Likely) benign	3 labs	9c9306919b
4:1803394 FGFR3 G>A	4	1803394	1803394	G	A	FGFR3	c.663G>A	NM_000142.5	NP_000133.1:p.(Ser221=)	NC_000004.11:g.1803394G>A	(Likely) benign	4 labs	9cbafd32a1
13:110822943 COL4A1 C>T	13	110822943	110822943	C	T	COL4A1	c.3693G>A	NM_001845.6	NP_001836.3:p.(Thr1231=)	NC_000013.10:g.110822943C>T	(Likely) benign	3 labs	9cd61efa3a
1:45796881 MUTYH G>A	1	45796881	45796881	G	A	MUTYH	c.1365C>T	NM_001048174.2	NP_001041639.1:p.(Thr455=)	NC_000001.10:g.45796881G>A	(Likely) benign	5 labs	9ceb8617fc
19:11326585 DOCK6 G>A	19	11326585	11326585	G	A	DOCK6	c.3913C>T	NM_020812.4	NP_065863.2:p.(Arg1305Cys)	NC_000019.9:g.11326585G>A	(Likely) benign	2 labs	9cf0d8c82d
19:13320274 CACNA1A G>A	19	13320274	13320274	G	A	CACNA1A	c.6378C>T	NM_001127222.2	NP_001120694.1:p.(Ser2126=)	NC_000019.9:g.13320274G>A	(Likely) benign	2 labs	9d0afd01b9
4:151520216 LRBA G>A	4	151520216	151520216	G	A	LRBA	c.5989C>T	NM_001364905.1	NP_001351834.1:p.(Arg1997Cys)	NC_000004.11:g.151520216G>A	(Likely) benign	3 labs	9d302281f4
16:75690279 TERF2IP A>G	16	75690279	75690279	A	G	TERF2IP	c.970A>G	NM_018975.4	NP_061848.2:p.(Lys324Glu)	NC_000016.9:g.75690279A>G	(Likely) benign	3 labs	9d4955a8b6
16:2161679 PKD1 G>A	16	2161679	2161679	G	A	PKD1	c.3489C>T	NM_001009944.3	NP_001009944.3:p.(Phe1163=)	NC_000016.9:g.2161679G>A	(Likely) benign	2 labs	9d69101ba5
17:7606350 WRAP53 T>C	17	7606350	7606350	T	C	WRAP53	c.1308T>C	NM_001143992.2	NP_001137464.1:p.(Ala436=)	NC_000017.10:g.7606350T>C	(Likely) benign	2 labs	9d7bdc702b
1:45295676 PTCH2 A>G	1	45295676	45295676	A	G	PTCH2	c.840T>C	NM_003738.5	NP_003729.3:p.(Ser280=)	NC_000001.10:g.45295676A>G	(Likely) benign	4 labs	9da40ffefd
15:91292963 BLM T>C	15	91292963	91292963	T	C	BLM	c.465T>C	NM_000057.4	NP_000048.1:p.(Asp155=)	NC_000015.9:g.91292963T>C	(Likely) benign	3 labs	9da8a2ad31
19:38990593 RYR1 C>T	19	38990593	38990593	C	T	RYR1	c.7260C>T	NM_000540.3	NP_000531.2:p.(His2420=)	NC_000019.9:g.38990593C>T	(Likely) benign	3 labs	9db232c71c
15:89401616 ACAN G>C	15	89401616	89401616	G	C	ACAN	c.5800G>C	NM_001369268.1	NP_001356197.1:p.(Val1934Leu)	NC_000015.9:g.89401616G>C	(Likely) benign	2 labs	9dc0f95a77
2:182542811 NEUROD1 G>A	2	182542811	182542811	G	A	NEUROD1	c.777C>T	NM_002500.5	NP_002491.3:p.(Ser259=)	NC_000002.11:g.182542811G>A	(Likely) benign	2 labs	9dd0b3ff9b
2:179499530 TTN T>C	2	179499530	179499530	T	C	TTN	c.42071A>G	NM_001267550.2	NP_001254479.2:p.(His14024Arg)	NC_000002.11:g.179499530T>C	(Likely) benign	3 labs	9de6503dd2
X:67426446 OPHN1 G>A	X	67426446	67426446	G	A	OPHN1	c.902C>T	NM_002547.3	NP_002538.1:p.(Thr301Met)	NC_000023.10:g.67426446G>A	(Likely) benign	4 labs	9df4e75e61
17:78085871 GAA G>A	17	78085871	78085871	G	A	GAA	c.1726G>A	NM_000152.5	NP_000143.2:p.(Gly576Ser)	NC_000017.10:g.78085871G>A	(Likely) benign	2 labs	9e8ac44ab3
2:152484315 NEB C>T	2	152484315	152484315	C	T	NEB	c.9865G>A	NM_001164508.2	NP_001157980.2:p.(Gly3289Ser)	NC_000002.11:g.152484315C>T	(Likely) benign	3 labs	9ea1747a07
19:7125278 INSR C>T	19	7125278	7125278	C	T	INSR	c.3258+16G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7125278C>T	(Likely) benign	2 labs	9ee30d8f98
19:13423525 CACNA1A C>T	19	13423525	13423525	C	T	CACNA1A	c.1626G>A	NM_001127222.2	NP_001120694.1:p.(Thr542=)	NC_000019.9:g.13423525C>T	(Likely) benign	2 labs	9ee559071b
4:88989089 PKD2 A>C	4	88989089	88989089	A	C	PKD2	c.2398A>C	NM_000297.4	NP_000288.1:p.(Met800Leu)	NC_000004.11:g.88989089A>C	(Likely) benign	3 labs	9f44d2427d
21:36259324 RUNX1 A>G	21	36259324	36259324	A	G	RUNX1	c.167T>C	NM_001754.5	NP_001745.2:p.(Leu56Ser)	NC_000021.8:g.36259324A>G	(Likely) benign	3 labs	9f4c5370a0
18:57363878 CCBE1 C>T	18	57363878	57363878	C	T	CCBE1	c.195G>A	NM_133459.4	NP_597716.1:p.(Glu65=)	NC_000018.9:g.57363878C>T	(Likely) benign	4 labs	9fc414e195
2:179587552 TTN T>C	2	179587552	179587552	T	C	TTN	c.22074A>G	NM_001267550.2	NP_001254479.2:p.(Lys7358=)	NC_000002.11:g.179587552T>C	(Likely) benign	5 labs	9fefdc0a41
13:32911416 BRCA2 T>A	13	32911416	32911416	T	A	BRCA2	c.2924T>A	NM_000059.4	NP_000050.3:p.(Ile975Asn)	NC_000013.10:g.32911416T>A	(Likely) benign	7 labs	a01e582f1d
21:27264112 APP G>T	21	27264112	27264112	G	T	APP	c.2133C>A	NM_000484.4	NP_000475.1:p.(Val711=)	NC_000021.8:g.27264112G>T	(Likely) benign	2 labs	a02597ae9d
12:22066006 ABCC9 GA>G	12	22066006	22066016	GA	G	ABCC9	c.817-7del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066016del	(Likely) benign	5 labs	a0419d4f1d
X:32383284 DMD C>A	X	32383284	32383284	C	A	DMD	c.4878G>T	NM_004006.3	NP_003997.2:p.(Val1626=)	NC_000023.10:g.32383284C>A	(Likely) benign	3 labs	a055190f3e
2:238249564 COL6A3 T>G	2	238249564	238249564	T	G	COL6A3	c.7995A>C	NM_004369.4	NP_004360.2:p.(Ala2665=)	NC_000002.11:g.238249564T>G	(Likely) benign	2 labs	a08a4f2c1b
12:48378380 COL2A1 A>G	12	48378380	48378380	A	G	COL2A1	c.1836T>C	NM_001844.5	NP_001835.3:p.(Gly612=)	NC_000012.11:g.48378380A>G	(Likely) benign	2 labs	a141818516
2:152460265 NEB C>T	2	152460265	152460265	C	T	NEB	c.13081G>A	NM_001164508.2	NP_001157980.2:p.(Glu4361Lys)	NC_000002.11:g.152460265C>T	(Likely) benign	3 labs	a14d7bdb74
2:228142227 COL4A3 G>A	2	228142227	228142227	G	A	COL4A3	c.2083G>A	NM_000091.5	NP_000082.2:p.(Gly695Arg)	NC_000002.11:g.228142227G>A	(Likely) pathogenic	3 labs	a1a441779b
16:2157948 PKD1 A>ACGCCAGC	16	2157948	2157965	A	ACGCCAGC	PKD1	c.6994_7000dup	NM_001009944.3	NP_001009944.3:p.(Val2334GlyfsTer88)	NC_000016.9:g.2157959_2157965dup	(Likely) pathogenic	2 labs	a1b77de99d
7:6026865 PMS2 T>C	7	6026865	6026865	T	C	PMS2	c.1531A>G	NM_000535.7	NP_000526.2:p.(Thr511Ala)	NC_000007.13:g.6026865T>C	(Likely) benign	6 labs	a1d07306b6
X:100653401 GLA A>G	X	100653401	100653401	A	G	GLA	c.956T>C	NM_000169.3	NP_000160.1:p.(Ile319Thr)	NC_000023.10:g.100653401A>G	(Likely) pathogenic	4 labs	a1e68c0c4a
17:41197659 BRCA1 G>C	17	41197659	41197659	G	C	BRCA1	c.*36C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197659G>C	(Likely) benign	3 labs	a23d417833
20:43057048 HNF4A C>T	20	43057048	43057048	C	T	HNF4A	c.1203C>T	NM_000457.5	NP_000448.3:p.(Asn401=)	NC_000020.10:g.43057048C>T	(Likely) benign	2 labs	a24f4fbaa4
4:1805568 FGFR3 C>T	4	1805568	1805568	C	T	FGFR3	c.1075+5C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1805568C>T	(Likely) benign	4 labs	a25adafba9
2:71838657 DYSF C>T	2	71838657	71838657	C	T	DYSF	c.4122C>T	NM_001130987.2	NP_001124459.1:p.(Ser1374=)	NC_000002.11:g.71838657C>T	(Likely) benign	2 labs	a260231f1e
1:196712577 CFH T>C	1	196712577	196712577	T	C	CFH	c.3134-5T>C	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196712577T>C	(Likely) benign	5 labs	a2d557bc4b
5:149755362 TCOF1 G>A	5	149755362	149755362	G	A	TCOF1	c.1783G>A	NM_001371623.1	NP_001358552.1:p.(Val595Ile)	NC_000005.9:g.149755362G>A	(Likely) benign	2 labs	a2e51800cf
2:179612635 TTN C>T	2	179612635	179612635	C	T	TTN	c.11311+5216G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612635C>T	(Likely) benign	4 labs	a30318a5e9
16:2549873 TBC1D24 G>A	16	2549873	2549873	G	A	TBC1D24	c.1244G>A	NM_001199107.2	NP_001186036.1:p.(Arg415Lys)	NC_000016.9:g.2549873G>A	VUS	2 labs	a32a1dec78
2:47690162 MSH2 G>T	2	47690162	47690162	G	T	MSH2	c.1387-8G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47690162G>T	(Likely) benign	6 labs	a34b5d0b12
3:37090070 MLH1 G>T	3	37090070	37090070	G	T	MLH1	c.1959G>T	NM_000249.4	NP_000240.1:p.(Leu653=)	NC_000003.11:g.37090070G>T	(Likely) benign	6 labs	a357d957b3
11:47464284 RAPSN C>T	11	47464284	47464284	C	T	RAPSN	c.614G>A	NM_005055.5	NP_005046.2:p.(Arg205Gln)	NC_000011.9:g.47464284C>T	(Likely) benign	2 labs	a398d0b5ae
1:26136282 SELENON C>T	1	26136282	26136282	C	T	SELENON	c.879C>T	NM_206926.2	NP_996809.1:p.(Arg293=)	NC_000001.10:g.26136282C>T	(Likely) benign	2 labs	a3a6e2cb27
16:15872688 MYH11 G>A	16	15872688	15872688	G	A	MYH11	c.739C>T	NM_002474.3	NP_002465.1:p.(Arg247Cys)	NC_000016.9:g.15872688G>A	(Likely) benign	4 labs	a3ce43348c
2:179438727 TTN A>G	2	179438727	179438727	A	G	TTN	c.72132T>C	NM_001267550.2	NP_001254479.2:p.(Gly24044=)	NC_000002.11:g.179438727A>G	(Likely) benign	6 labs	a3fcda4106
2:179665279 TTN G>A	2	179665279	179665279	G	A	TTN	c.426C>T	NM_001267550.2	NP_001254479.2:p.(Ala142=)	NC_000002.11:g.179665279G>A	(Likely) benign	5 labs	a40824891a
1:120469147 NOTCH2 T>C	1	120469147	120469147	T	C	NOTCH2	c.3980A>G	NM_024408.4	NP_077719.2:p.(Asp1327Gly)	NC_000001.10:g.120469147T>C	(Likely) benign	2 labs	a40f045fb5
7:6026530 PMS2 C>T	7	6026530	6026530	C	T	PMS2	c.1866G>A	NM_000535.7	NP_000526.2:p.(Met622Ile)	NC_000007.13:g.6026530C>T	(Likely) benign	7 labs	a4125441f7
X:135292164 FHL1 G>A	X	135292164	135292164	G	A	FHL1	c.871G>A	NM_001159699.2	NP_001153171.1:p.(Asp291Asn)	NC_000023.10:g.135292164G>A	(Likely) benign	5 labs	a4371ed0f9
11:103025474 DYNC2H1 T>G	11	103025474	103025474	T	G	DYNC2H1	c.3509T>G	NM_001080463.1	NP_001073932.1:p.(Leu1170Ter)	NC_000011.9:g.103025474T>G	(Likely) pathogenic	2 labs	a440b19cb2
11:67814983 TCIRG1 G>A	11	67814983	67814983	G	A	TCIRG1	c.1249G>A	NM_006019.4	NP_006010.2:p.(Ala417Thr)	NC_000011.9:g.67814983G>A	VUS	4 labs	a4585bea12
1:63894794 ALG6 T>C	1	63894794	63894794	T	C	ALG6	c.1323T>C	NM_013339.4	NP_037471.2:p.(Tyr441=)	NC_000001.10:g.63894794T>C	(Likely) benign	2 labs	a49affe7de
17:7576841 TP53 A>G	17	7576841	7576841	A	G	TP53	c.993+12T>C	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7576841A>G	(Likely) benign	7 labs	a4a737965b
21:47422195 COL6A1 G>A	21	47422195	47422195	G	A	COL6A1	c.2130G>A	NM_001848.3	NP_001839.2:p.(Thr710=)	NC_000021.8:g.47422195G>A	(Likely) benign	3 labs	a4b51c7d45
2:179393840 TTN C>T	2	179393840	179393840	C	T	TTN	c.106638G>A	NM_001267550.2	NP_001254479.2:p.(Arg35546=)	NC_000002.11:g.179393840C>T	(Likely) benign	5 labs	a4e6a5f792
10:43615094 RET C>T	10	43615094	43615094	C	T	RET	c.2508C>T	NM_020975.6	NP_066124.1:p.(Ser836=)	NC_000010.10:g.43615094C>T	(Likely) benign	5 labs	a5259f8659
13:23808732 SGCG C>CT	13	23808732	23808744	C	CT	SGCG	c.196-6dup	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23808744dup	(Likely) benign	2 labs	a546a41e29
16:1258033 CACNA1H G>T	16	1258033	1258033	G	T	CACNA1H	c.3175G>T	NM_021098.3	NP_066921.2:p.(Ala1059Ser)	NC_000016.9:g.1258033G>T	(Likely) benign	2 labs	a557ae4723
16:23646295 PALB2 T>C	16	23646295	23646295	T	C	PALB2	c.1572A>G	NM_024675.4	NP_078951.2:p.(Ser524=)	NC_000016.9:g.23646295T>C	(Likely) benign	7 labs	a58aeedfb5
2:179424558 TTN C>T	2	179424558	179424558	C	T	TTN	c.86301G>A	NM_001267550.2	NP_001254479.2:p.(Lys28767=)	NC_000002.11:g.179424558C>T	(Likely) benign	4 labs	a59e4bb683
8:144992900 PLEC G>A	8	144992900	144992900	G	A	PLEC	c.11089C>T	NM_201384.3	NP_958786.1:p.(Leu3697=)	NC_000008.10:g.144992900G>A	(Likely) benign	2 labs	a5b9dbcf98
8:11614584 GATA4 G>A	8	11614584	11614584	G	A	GATA4	c.1141G>A	NM_001308093.3	NP_001295022.1:p.(Val381Met)	NC_000008.10:g.11614584G>A	(Likely) benign	2 labs	a5ca4af287
17:63533827 AXIN2 G>A	17	63533827	63533827	G	A	AXIN2	c.1327C>T	NM_004655.4	NP_004646.3:p.(Leu443=)	NC_000017.10:g.63533827G>A	(Likely) benign	2 labs	a5f3c2499a
10:43606650 RET C>T	10	43606650	43606650	C	T	RET	c.1264-5C>T	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43606650C>T	(Likely) benign	4 labs	a5fe027071
1:53676401 CPT2 T>G	1	53676401	53676401	T	G	CPT2	c.1055T>G	NM_000098.3	NP_000089.1:p.(Phe352Cys)	NC_000001.10:g.53676401T>G	(Likely) benign	2 labs	a66ec4a8f4
15:48777593 FBN1 C>T	15	48777593	48777593	C	T	FBN1	c.3690G>A	NM_000138.5	NP_000129.3:p.(Met1230Ile)	NC_000015.9:g.48777593C>T	VUS	3 labs	a6792e4690
19:39051746 RYR1 C>T	19	39051746	39051746	C	T	RYR1	c.12283-7C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39051746C>T	(Likely) benign	2 labs	a69300ef34
17:10542709 MYH3 G>A	17	10542709	10542709	G	A	MYH3	c.3008C>T	NM_002470.4	NP_002461.2:p.(Ala1003Val)	NC_000017.10:g.10542709G>A	(Likely) benign	2 labs	a69f363388
12:5154064 KCNA5 G>A	12	5154064	5154064	G	A	KCNA5	c.751G>A	NM_002234.4	NP_002225.2:p.(Ala251Thr)	NC_000012.11:g.5154064G>A	(Likely) benign	3 labs	a6c62ff410
1:115258747 NRAS C>A	1	115258747	115258747	C	A	NRAS	c.35G>T	NM_002524.5	NP_002515.1:p.(Gly12Val)	NC_000001.10:g.115258747C>A	(Likely) pathogenic	2 labs	a6f1e38923
11:108159732 ATM C>T	11	108159732	108159732	C	T	ATM	c.4138C>T	NM_000051.4	NP_000042.3:p.(His1380Tyr)	NC_000011.9:g.108159732C>T	(Likely) benign	5 labs	a7004c1099
16:2136866 TSC2 C>T	16	2136866	2136866	C	T	TSC2	c.4983C>T	NM_000548.5	NP_000539.2:p.(Thr1661=)	NC_000016.9:g.2136866C>T	(Likely) benign	3 labs	a71bcbbd65
7:92762258 SAMD9L A>G	7	92762258	92762258	A	G	SAMD9L	c.3027T>C	NM_152703.5	NP_689916.2:p.(Cys1009=)	NC_000007.13:g.92762258A>G	(Likely) benign	2 labs	a72a96ebcd
6:41127613 TREM2 C>A	6	41127613	41127613	C	A	TREM2	c.399G>T	NM_018965.4	NP_061838.1:p.(Leu133=)	NC_000006.11:g.41127613C>A	(Likely) benign	3 labs	a75895e80d
10:69918324 MYPN G>A	10	69918324	69918324	G	A	MYPN	c.1399G>A	NM_032578.4	NP_115967.2:p.(Glu467Lys)	NC_000010.10:g.69918324G>A	(Likely) benign	5 labs	a76a161625
8:43053062 HGSNAT G>C	8	43053062	43053062	G	C	HGSNAT	c.1693G>C	NM_152419.3	NP_689632.2:p.(Gly565Arg)	NC_000008.10:g.43053062G>C	(Likely) benign	2 labs	a77a7330a8
12:48373798 COL2A1 G>C	12	48373798	48373798	G	C	COL2A1	c.2673C>G	NM_001844.5	NP_001835.3:p.(Gly891=)	NC_000012.11:g.48373798G>C	(Likely) benign	3 labs	a78454d0cb
11:108143331 ATM T>C	11	108143331	108143331	T	C	ATM	c.3150T>C	NM_000051.4	NP_000042.3:p.(Leu1050=)	NC_000011.9:g.108143331T>C	(Likely) benign	6 labs	a7cd1ac89f
11:103107198 DYNC2H1 A>G	11	103107198	103107198	A	G	DYNC2H1	c.9749A>G	NM_001377.3	NP_001368.2:p.(Gln3250Arg)	NC_000011.9:g.103107198A>G	(Likely) benign	2 labs	a7edd99e1d
11:64575505 MEN1 C>T	11	64575505	64575505	C	T	MEN1	c.512G>A	NM_001370259.2	NP_001357188.2:p.(Arg171Gln)	NC_000011.9:g.64575505C>T	(Likely) benign	5 labs	a82f6b5412
10:73082814 SLC29A3 A>G	10	73082814	73082814	A	G	SLC29A3	c.300+3A>G	NM_018344.6	NP_060814.4:p.?	NC_000010.10:g.73082814A>G	(Likely) benign	2 labs	a8466beb32
8:11614483 GATA4 C>T	8	11614483	11614483	C	T	GATA4	c.1040C>T	NM_001308093.3	NP_001295022.1:p.(Ala347Val)	NC_000008.10:g.11614483C>T	(Likely) benign	3 labs	a84b453730
12:56105894 ITGA7 G>A	12	56105894	56105894	G	A	ITGA7	c.38C>T	NM_001144997.1	NP_001138469.1:p.(Thr13Ile)	NC_000012.11:g.56105894G>A	(Likely) benign	2 labs	a851e3e286
21:47552013 COL6A2 C>T	21	47552013	47552013	C	T	COL6A2	c.2607C>T	NM_001849.4	NP_001840.3:p.(Asp869=)	NC_000021.8:g.47552013C>T	(Likely) benign	2 labs	a85a23318d
17:54671859 NOG G>A	17	54671859	54671859	G	A	NOG	c.275G>A	NM_005450.6	NP_005441.1:p.(Gly92Glu)	NC_000017.10:g.54671859G>A	(Likely) benign	3 labs	a8628233cf
2:48030632 MSH6 G>T	2	48030632	48030632	G	T	MSH6	c.3246G>T	NM_000179.3	NP_000170.1:p.(Pro1082=)	NC_000002.11:g.48030632G>T	(Likely) benign	7 labs	a8656b5aaa
2:179616770 TTN G>GAA	2	179616770	179616785	G	GAA	TTN	c.11311+1079_11311+1080dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616784_179616785dup	(Likely) benign	2 labs	a88ec9bbe8
19:8668698 ADAMTS10 C>T	19	8668698	8668698	C	T	ADAMTS10	c.506G>A	NM_030957.4	NP_112219.3:p.(Arg169Gln)	NC_000019.9:g.8668698C>T	(Likely) benign	2 labs	a8a5a8aedb
9:98231084 PTCH1 T>C	9	98231084	98231084	T	C	PTCH1	c.2199A>G	NM_000264.5	NP_000255.2:p.(Ser733=)	NC_000009.11:g.98231084T>C	(Likely) benign	3 labs	a8a5fc8012
19:15302941 NOTCH3 T>C	19	15302941	15302941	T	C	NOTCH3	c.509A>G	NM_000435.3	NP_000426.2:p.(His170Arg)	NC_000019.9:g.15302941T>C	(Likely) benign	3 labs	a8c886f16c
X:46360423 ZNF674 G>A	X	46360423	46360423	G	A	ZNF674	c.586C>T	NM_001190417.2	NP_001177346.1:p.(Arg196Ter)	NC_000023.10:g.46360423G>A	(Likely) benign	3 labs	a953aaf56e
1:5927169 NPHP4 G>A	1	5927169	5927169	G	A	NPHP4	c.3479C>T	NM_015102.5	NP_055917.1:p.(Pro1160Leu)	NC_000001.10:g.5927169G>A	(Likely) benign	2 labs	a99070687c
3:30713619 TGFBR2 C>T	3	30713619	30713619	C	T	TGFBR2	c.944C>T	NM_003242.6	NP_003233.4:p.(Thr315Met)	NC_000003.11:g.30713619C>T	(Likely) benign	3 labs	a9b0e81b16
11:67818269 TCIRG1 G>A	11	67818269	67818269	G	A	TCIRG1	c.2476G>A	NM_006019.4	NP_006010.2:p.(Ala826Thr)	NC_000011.9:g.67818269G>A	(Likely) benign	2 labs	a9b5888160
6:51893107 PKHD1 T>C	6	51893107	51893107	T	C	PKHD1	c.3407A>G	NM_138694.4	NP_619639.3:p.(Tyr1136Cys)	NC_000006.11:g.51893107T>C	(Likely) benign	3 labs	a9c801faef
5:127625569 FBN2 C>T	5	127625569	127625569	C	T	FBN2	c.6511+5G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625569C>T	(Likely) benign	3 labs	a9ccafa752
11:108186631 ATM A>G	11	108186631	108186631	A	G	ATM	c.6088A>G	NM_000051.4	NP_000042.3:p.(Ile2030Val)	NC_000011.9:g.108186631A>G	(Likely) benign	5 labs	a9d18a5c40
11:68191036 LRP5 G>A	11	68191036	68191036	G	A	LRP5	c.3107G>A	NM_002335.4	NP_002326.2:p.(Arg1036Gln)	NC_000011.9:g.68191036G>A	(Likely) benign	3 labs	a9f8c10d2d
6:15523448 DTNBP1 G>A	6	15523448	15523448	G	A	DTNBP1	c.814C>T	NM_032122.5	NP_115498.2:p.(Pro272Ser)	NC_000006.11:g.15523448G>A	(Likely) benign	2 labs	aa2cf25ffd
17:48269390 COL1A1 G>T	17	48269390	48269390	G	T	COL1A1	c.1984-5C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269390G>T	(Likely) benign	4 labs	aa36cb70de
17:4927205 KIF1C G>A	17	4927205	4927205	G	A	KIF1C	c.3071G>A	NM_006612.6	NP_006603.2:p.(Arg1024Gln)	NC_000017.10:g.4927205G>A	(Likely) benign	3 labs	aa3f7336ff
18:59992665 TNFRSF11A G>A	18	59992665	59992665	G	A	TNFRSF11A	c.75+5G>A	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.59992665G>A	(Likely) benign	2 labs	aa53466d33
15:91308570 BLM C>T	15	91308570	91308570	C	T	BLM	c.2119C>T	NM_000057.4	NP_000048.1:p.(Pro707Ser)	NC_000015.9:g.91308570C>T	(Likely) benign	6 labs	aaa695538b
13:32937488 BRCA2 G>T	13	32937488	32937488	G	T	BRCA2	c.8149G>T	NM_000059.4	NP_000050.3:p.(Ala2717Ser)	NC_000013.10:g.32937488G>T	(Likely) benign	7 labs	aac3379cfd
10:43597827 RET C>A	10	43597827	43597827	C	A	RET	c.375C>A	NM_020975.6	NP_066124.1:p.(Val125=)	NC_000010.10:g.43597827C>A	(Likely) benign	4 labs	aac4a8a3e1
7:128482959 FLNC C>T	7	128482959	128482959	C	T	FLNC	c.2501C>T	NM_001458.5	NP_001449.3:p.(Thr834Met)	NC_000007.13:g.128482959C>T	(Likely) benign	4 labs	ab525d5c60
2:179434139 TTN A>G	2	179434139	179434139	A	G	TTN	c.76720T>C	NM_001267550.2	NP_001254479.2:p.(Tyr25574His)	NC_000002.11:g.179434139A>G	(Likely) benign	4 labs	ab65564394
3:37067120 MLH1 T>A	3	37067120	37067120	T	A	MLH1	c.1039-8T>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120T>A	(Likely) benign	6 labs	ab83ab7350
19:50905735 POLD1 C>T	19	50905735	50905735	C	T	POLD1	c.783C>T	NM_002691.4	NP_002682.2:p.(Val261=)	NC_000019.9:g.50905735C>T	(Likely) benign	2 labs	ab8f7610f9
21:47421870 COL6A1 C>T	21	47421870	47421870	C	T	COL6A1	c.1957-5C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421870C>T	(Likely) benign	3 labs	ab9055bf6c
15:89386888 ACAN C>T	15	89386888	89386888	C	T	ACAN	c.1051+9C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386888C>T	(Likely) benign	2 labs	abc3d332f1
19:13419085 CACNA1A G>A	19	13419085	13419085	G	A	CACNA1A	c.1782-20C>T	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13419085G>A	(Likely) benign	2 labs	abedd8e9a9
2:71740958 DYSF T>C	2	71740958	71740958	T	C	DYSF	c.666T>C	NM_001130987.2	NP_001124459.1:p.(Pro222=)	NC_000002.11:g.71740958T>C	(Likely) benign	2 labs	ac26029dc5
2:152383521 NEB C>T	2	152383521	152383521	C	T	NEB	c.21856G>A	NM_001164508.2	NP_001157980.2:p.(Asp7286Asn)	NC_000002.11:g.152383521C>T	(Likely) benign	2 labs	ac721bc934
19:18273013 PIK3R2 G>A	19	18273013	18273013	G	A	PIK3R2	c.903G>A	NM_005027.4	NP_005018.2:p.(Ala301=)	NC_000019.9:g.18273013G>A	(Likely) benign	3 labs	ac89c407d0
17:41244429 BRCA1 C>T	17	41244429	41244429	C	T	BRCA1	c.3119G>A	NM_007294.4	NP_009225.1:p.(Ser1040Asn)	NC_000017.10:g.41244429C>T	(Likely) benign	7 labs	ac9260ed32
2:152417767 NEB C>A	2	152417767	152417767	C	A	NEB	c.19056G>T	NM_001164508.2	NP_001157980.2:p.(Thr6352=)	NC_000002.11:g.152417767C>A	(Likely) benign	3 labs	ac942842f6
2:179485599 TTN A>G	2	179485599	179485599	A	G	TTN	c.45738T>C	NM_001267550.2	NP_001254479.2:p.(Ala15246=)	NC_000002.11:g.179485599A>G	(Likely) benign	4 labs	acaae3148d
6:157099799 ARID1B G>A	6	157099799	157099799	G	A	ARID1B	c.985G>A	NM_001374828.1	NP_001361757.1:p.(Gly329Ser)	NC_000006.11:g.157099799G>A	(Likely) benign	3 labs	acc03f90c7
19:6501386 TUBB4A C>T	19	6501386	6501386	C	T	TUBB4A	c.189G>A	NM_006087.4	NP_006078.2:p.(Ala63=)	NC_000019.9:g.6501386C>T	(Likely) benign	2 labs	ad81ac1dcc
2:179560847 TTN C>T	2	179560847	179560847	C	T	TTN	c.30952G>A	NM_001267550.2	NP_001254479.2:p.(Glu10318Lys)	NC_000002.11:g.179560847C>T	(Likely) benign	4 labs	acd21c6c6f
21:47848466 PCNT C>T	21	47848466	47848466	C	T	PCNT	c.7652C>T	NM_006031.6	NP_006022.3:p.(Ala2551Val)	NC_000021.8:g.47848466C>T	(Likely) benign	2 labs	acdafc1e8e
17:59853755 BRIP1 C>T	17	59853755	59853755	C	T	BRIP1	c.2097+7G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853755C>T	(Likely) benign	6 labs	acddc92cb2
X:32481582 DMD T>A	X	32481582	32481582	T	A	DMD	c.3406A>T	NM_004006.3	NP_003997.2:p.(Thr1136Ser)	NC_000023.10:g.32481582T>A	(Likely) benign	3 labs	aceb0605d3
2:179539812 TTN T>G	2	179539812	179539812	T	G	TTN	c.34566A>C	NM_001267550.2	NP_001254479.2:p.(Glu11522Asp)	NC_000002.11:g.179539812T>G	(Likely) benign	5 labs	ad063208fd
2:179514941 TTN TTTTCCTCTTCAGGAGCAA>T	2	179514941	179514984	TTTTCCTCTTCAGGAGCAA	T	TTN	c.39749_39766del	NM_001267550.2	NP_001254479.2:p.(Ile13250_Glu13255del)	NC_000002.11:g.179514967_179514984del	(Likely) benign	5 labs	ad23fa1452
2:179482089 TTN C>T	2	179482089	179482089	C	T	TTN	c.47723G>A	NM_001267550.2	NP_001254479.2:p.(Arg15908His)	NC_000002.11:g.179482089C>T	(Likely) benign	6 labs	ad3a63562b
X:33038258 DMD T>C	X	33038258	33038258	T	C	DMD	c.91A>G	NM_004006.3	NP_003997.2:p.(Lys31Glu)	NC_000023.10:g.33038258T>C	VUS	2 labs	ad4c434217
19:18900029 COMP C>A	19	18900029	18900029	C	A	COMP	c.468G>T	NM_000095.3	NP_000086.2:p.(Pro156=)	NC_000019.9:g.18900029C>A	(Likely) benign	2 labs	ad5af27fb7
19:38956726 RYR1 C>T	19	38956726	38956726	C	T	RYR1	c.2871-5C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38956726C>T	(Likely) benign	4 labs	ad868bfad2
1:11106673 MASP2 G>A	1	11106673	11106673	G	A	MASP2	c.352C>T	NM_006610.4	NP_006601.2:p.(Arg118Cys)	NC_000001.10:g.11106673G>A	VUS	2 labs	ad87774ce5
17:63533539 AXIN2 C>T	17	63533539	63533539	C	T	AXIN2	c.1615G>A	NM_004655.4	NP_004646.3:p.(Val539Met)	NC_000017.10:g.63533539C>T	(Likely) benign	3 labs	ad8d82d5eb
7:42007201 GLI3 T>C	7	42007201	42007201	T	C	GLI3	c.2424A>G	NM_000168.6	NP_000159.3:p.(Ile808Met)	NC_000007.13:g.42007201T>C	(Likely) benign	3 labs	adac52e937
X:11130185 HCCS G>A	X	11130185	11130185	G	A	HCCS	c.5G>A	NM_005333.5	NP_005324.3:p.(Gly2Asp)	NC_000023.10:g.11130185G>A	(Likely) benign	3 labs	adc23de5ff
2:71739068 DYSF G>C	2	71739068	71739068	G	C	DYSF	c.460+17G>C	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71739068G>C	(Likely) benign	2 labs	ae180adb04
3:48508851 TREX1 A>G	3	48508851	48508851	A	G	TREX1	c.797A>G	NM_033629.6	NP_338599.1:p.(Glu266Gly)	NC_000003.11:g.48508851A>G	(Likely) benign	2 labs	ae3b9ec286
19:11118711 SMARCA4 C>T	19	11118711	11118711	C	T	SMARCA4	c.2123+12C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11118711C>T	(Likely) benign	2 labs	ae47bfe39b
15:31210406 FAN1 C>T	15	31210406	31210406	C	T	FAN1	c.1851C>T	NM_014967.5	NP_055782.3:p.(Ser617=)	NC_000015.9:g.31210406C>T	(Likely) benign	2 labs	ae6799c622
17:8135446 CTC1 G>A	17	8135446	8135446	G	A	CTC1	c.2160C>T	NM_025099.6	NP_079375.3:p.(Thr720=)	NC_000017.10:g.8135446G>A	(Likely) benign	2 labs	ae772a2f7a
14:24709123 TINF2 G>A	14	24709123	24709123	G	A	TINF2	c.1236C>T	NM_001099274.3	NP_001092744.1:p.(Asn412=)	NC_000014.8:g.24709123G>A	(Likely) benign	2 labs	aec0ad29c0
13:32906970 BRCA2 T>C	13	32906970	32906970	T	C	BRCA2	c.1355T>C	NM_000059.4	NP_000050.3:p.(Leu452Pro)	NC_000013.10:g.32906970T>C	(Likely) benign	5 labs	aec10bcbde
21:47552175 COL6A2 C>T	21	47552175	47552175	C	T	COL6A2	c.2769C>T	NM_001849.4	NP_001840.3:p.(His923=)	NC_000021.8:g.47552175C>T	(Likely) benign	2 labs	aec4f26e79
2:179415013 TTN G>A	2	179415013	179415013	G	A	TTN	c.91565-13C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179415013G>A	(Likely) benign	5 labs	af0718c66d
2:179526573 TTN A>G	2	179526573	179526573	A	G	TTN	c.37202-4T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179526573A>G	(Likely) benign	2 labs	af0b4a77bd
8:11407690 BLK C>A	8	11407690	11407690	C	A	BLK	c.391C>A	NM_001715.3	NP_001706.2:p.(Arg131=)	NC_000008.10:g.11407690C>A	(Likely) benign	3 labs	af24a3199a
19:42485768 ATP1A3 C>T	19	42485768	42485768	C	T	ATP1A3	c.1323G>A	NM_152296.5	NP_689509.1:p.(Ala441=)	NC_000019.9:g.42485768C>T	(Likely) benign	5 labs	af2b873acf
17:41226503 BRCA1 C>G	17	41226503	41226503	C	G	BRCA1	c.4520G>C	NM_007294.4	NP_009225.1:p.(Arg1507Thr)	NC_000017.10:g.41226503C>G	(Likely) benign	2 labs	af972589b1
2:179454530 TTN C>T	2	179454530	179454530	C	T	TTN	c.61922G>A	NM_001267550.2	NP_001254479.2:p.(Arg20641Gln)	NC_000002.11:g.179454530C>T	(Likely) benign	6 labs	af99ca1869
19:15289863 NOTCH3 G>A	19	15289863	15289863	G	A	NOTCH3	c.3691C>T	NM_000435.3	NP_000426.2:p.(Arg1231Cys)	NC_000019.9:g.15289863G>A	(Likely) pathogenic	3 labs	afbe533f24
14:23900225 MYH7 A>G	14	23900225	23900225	A	G	MYH7	c.797-17T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900225A>G	(Likely) benign	6 labs	afbed2f9ab
16:3831230 CREBBP G>T	16	3831230	3831230	G	T	CREBBP	c.1651C>A	NM_004380.3	NP_004371.2:p.(Leu551Ile)	NC_000016.9:g.3831230G>T	(Likely) benign	3 labs	afe04cea62
2:47710049 MSH2 T>C	2	47710049	47710049	T	C	MSH2	c.2766T>C	NM_000251.3	NP_000242.1:p.(Phe922=)	NC_000002.11:g.47710049T>C	(Likely) benign	3 labs	b000a191fc
11:108121446 ATM A>G	11	108121446	108121446	A	G	ATM	c.1254A>G	NM_000051.4	NP_000042.3:p.(Gln418=)	NC_000011.9:g.108121446A>G	(Likely) benign	4 labs	b02071243c
22:36689921 MYH9 G>A	22	36689921	36689921	G	A	MYH9	c.3838-12C>T	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36689921G>A	(Likely) benign	2 labs	b05fb1e185
12:12871129 CDKN1B T>C	12	12871129	12871129	T	C	CDKN1B	c.356T>C	NM_004064.5	NP_004055.1:p.(Ile119Thr)	NC_000012.11:g.12871129T>C	(Likely) benign	3 labs	b08ddf3791
1:22211623 HSPG2 C>T	1	22211623	22211623	C	T	HSPG2	c.1238G>A	NM_005529.7	NP_005520.4:p.(Arg413Gln)	NC_000001.10:g.22211623C>T	(Likely) benign	3 labs	b090b65720
15:28228529 OCA2 T>C	15	28228529	28228529	T	C	OCA2	c.1465A>G	NM_000275.2	NP_000266.2:p.(Asn489Asp)	NC_000015.9:g.28228529T>C	(Likely) pathogenic	4 labs	b0bec4786f
4:996555 IDUA G>C	4	996555	996555	G	C	IDUA	c.1225G>C	NM_000203.5	NP_000194.2:p.(Gly409Arg)	NC_000004.11:g.996555G>C	(Likely) benign	3 labs	b154d737e3
5:79950708 DHFR TGCAGCGGCC>T	5	79950708	79950732	TGCAGCGGCC	T	DHFR	c.-409_-401del	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950724_79950732del	(Likely) benign	2 labs	b159c43b78
19:38990614 RYR1 C>T	19	38990614	38990614	C	T	RYR1	c.7281C>T	NM_000540.3	NP_000531.2:p.(Ala2427=)	NC_000019.9:g.38990614C>T	(Likely) benign	2 labs	b15c81163e
2:152580815 NEB C>G	2	152580815	152580815	C	G	NEB	c.571G>C	NM_001164508.2	NP_001157980.2:p.(Glu191Gln)	NC_000002.11:g.152580815C>G	(Likely) benign	2 labs	b1609fa0a5
11:47433920 SLC39A13 C>G	11	47433920	47433920	C	G	SLC39A13	c.439C>G	NM_001128225.3	NP_001121697.2:p.(Gln147Glu)	NC_000011.9:g.47433920C>G	(Likely) benign	2 labs	b187d1a472
22:29121207 CHEK2 G>A	22	29121207	29121207	G	A	CHEK2	c.444+24C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121207G>A	(Likely) benign	4 labs	b1a5473e06
20:44526676 CTSA G>A	20	44526676	44526676	G	A	CTSA	c.1287G>A	NM_000308.4	NP_000299.3:p.(Lys429=)	NC_000020.10:g.44526676G>A	(Likely) benign	3 labs	b1baafb9c2
2:179396782 TTN C>G	2	179396782	179396782	C	G	TTN	c.104560G>C	NM_001267550.2	NP_001254479.2:p.(Val34854Leu)	NC_000002.11:g.179396782C>G	(Likely) benign	6 labs	b1c972286f
19:10247822 DNMT1 A>C	19	10247822	10247822	A	C	DNMT1	c.4428T>G	NM_001130823.3	NP_001124295.1:p.(His1476Gln)	NC_000019.9:g.10247822A>C	(Likely) benign	4 labs	b1ec9e3b81
10:88441336 LDB3 C>T	10	88441336	88441336	C	T	LDB3	c.465C>T	NM_007078.3	NP_009009.1:p.(Leu155=)	NC_000010.10:g.88441336C>T	(Likely) benign	6 labs	b2854831f9
12:48376869 COL2A1 T>C	12	48376869	48376869	T	C	COL2A1	c.2094+7A>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48376869T>C	(Likely) benign	2 labs	b2bf8b9f18
16:2143865 PKD1 G>A	16	2143865	2143865	G	A	PKD1	c.10768C>T	NM_001009944.3	NP_001009944.3:p.(Leu3590=)	NC_000016.9:g.2143865G>A	(Likely) benign	2 labs	b2e695ffaf
2:179569705 TTN A>G	2	179569705	179569705	A	G	TTN	c.29605-12T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179569705A>G	(Likely) benign	4 labs	b2fbb405ad
5:1254594 TERT C>T	5	1254594	1254594	C	T	TERT	c.3184G>A	NM_198253.3	NP_937983.2:p.(Ala1062Thr)	NC_000005.9:g.1254594C>T	(Likely) benign	5 labs	b30e9592d1
2:20202930 MATN3 G>A	2	20202930	20202930	G	A	MATN3	c.908C>T	NM_002381.5	NP_002372.1:p.(Thr303Met)	NC_000002.11:g.20202930G>A	(Likely) benign	2 labs	b3311d4f0f
13:32906655 BRCA2 A>G	13	32906655	32906655	A	G	BRCA2	c.1040A>G	NM_000059.4	NP_000050.3:p.(Gln347Arg)	NC_000013.10:g.32906655A>G	(Likely) benign	6 labs	b35ed64478
10:89624218 PTEN C>G	10	89624218	89624218	C	G	PTEN	c.-9C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624218C>G	(Likely) benign	2 labs	b380a219c2
18:33952644 FHOD3 C>T	18	33952644	33952644	C	T	FHOD3	c.274C>T	NM_025135.5	NP_079411.2:p.(Arg92Trp)	NC_000018.9:g.33952644C>T	VUS	2 labs	b3de8c44a2
5:112178492 APC C>T	5	112178492	112178492	C	T	APC	c.7201C>T	NM_000038.6	NP_000029.2:p.(Leu2401=)	NC_000005.9:g.112178492C>T	(Likely) benign	4 labs	b3e81e0c3e
1:235897907 LYST C>T	1	235897907	235897907	C	T	LYST	c.8411G>A	NM_000081.4	NP_000072.2:p.(Gly2804Asp)	NC_000001.10:g.235897907C>T	(Likely) benign	2 labs	b3f65a1272
6:51612700 PKHD1 T>C	6	51612700	51612700	T	C	PKHD1	c.9714A>G	NM_138694.4	NP_619639.3:p.(Gly3238=)	NC_000006.11:g.51612700T>C	(Likely) benign	2 labs	b40aa3e69b
2:179587955 TTN G>T	2	179587955	179587955	G	T	TTN	c.21779C>A	NM_001267550.2	NP_001254479.2:p.(Ser7260Tyr)	NC_000002.11:g.179587955G>T	(Likely) benign	6 labs	b419b3d520
14:64518321 SYNE2 A>G	14	64518321	64518321	A	G	SYNE2	c.7690A>G	NM_182914.3	NP_878918.2:p.(Ile2564Val)	NC_000014.8:g.64518321A>G	(Likely) benign	3 labs	b46495943c
12:133220454 POLE G>A	12	133220454	133220454	G	A	POLE	c.4259C>T	NM_006231.4	NP_006222.2:p.(Ala1420Val)	NC_000012.11:g.133220454G>A	(Likely) benign	4 labs	b49a94bec2
2:179586604 TTN C>G	2	179586604	179586604	C	G	TTN	c.22786G>C	NM_001267550.2	NP_001254479.2:p.(Asp7596His)	NC_000002.11:g.179586604C>G	(Likely) benign	6 labs	b4b088a9da
19:47259292 FKRP C>T	19	47259292	47259292	C	T	FKRP	c.585C>T	NM_024301.5	NP_077277.1:p.(Asp195=)	NC_000019.9:g.47259292C>T	(Likely) benign	3 labs	b4ba70b7e8
11:118368665 KMT2A A>G	11	118368665	118368665	A	G	KMT2A	c.5679A>G	NM_001197104.2	NP_001184033.1:p.(Leu1893=)	NC_000011.9:g.118368665A>G	(Likely) benign	2 labs	b4da594ed8
2:152527636 NEB C>G	2	152527636	152527636	C	G	NEB	c.4407G>C	NM_001164508.2	NP_001157980.2:p.(Glu1469Asp)	NC_000002.11:g.152527636C>G	(Likely) benign	2 labs	b538c2afc9
4:41748217 PHOX2B G>A	4	41748217	41748217	G	A	PHOX2B	c.552C>T	NM_003924.4	NP_003915.2:p.(Ser184=)	NC_000004.11:g.41748217G>A	(Likely) benign	2 labs	b549739c27
21:47411912 COL6A1 G>A	21	47411912	47411912	G	A	COL6A1	c.1120-12G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47411912G>A	(Likely) benign	2 labs	b57ec93b09
12:31247682 DDX11 T>C	12	31247682	31247682	T	C	DDX11	c.1415-7T>C	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31247682T>C	(Likely) benign	2 labs	b5b543e55f
13:110853882 COL4A1 G>C	13	110853882	110853882	G	C	COL4A1	c.1000-13C>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110853882G>C	(Likely) benign	2 labs	b5c6cf1f9e
2:179515483 TTN G>C	2	179515483	179515483	G	C	TTN	c.39704C>G	NM_001267550.2	NP_001254479.2:p.(Pro13235Arg)	NC_000002.11:g.179515483G>C	(Likely) benign	5 labs	b601814f20
2:179666982 TTN C>A	2	179666982	179666982	C	A	TTN	c.178G>T	NM_001267550.2	NP_001254479.2:p.(Asp60Tyr)	NC_000002.11:g.179666982C>A	(Likely) benign	5 labs	b646a6ad75
2:233391303 CHRND C>G	2	233391303	233391303	C	G	CHRND	c.117C>G	NM_000751.3	NP_000742.1:p.(Asn39Lys)	NC_000002.11:g.233391303C>G	(Likely) benign	2 labs	b67609c4e0
2:179431594 TTN A>G	2	179431594	179431594	A	G	TTN	c.79265T>C	NM_001267550.2	NP_001254479.2:p.(Ile26422Thr)	NC_000002.11:g.179431594A>G	(Likely) benign	3 labs	b686ec892a
2:179401777 TTN A>T	2	179401777	179401777	A	T	TTN	c.100059T>A	NM_001267550.2	NP_001254479.2:p.(Ile33353=)	NC_000002.11:g.179401777A>T	(Likely) benign	5 labs	b687826f24
16:14015932 ERCC4 C>T	16	14015932	14015932	C	T	ERCC4	c.252C>T	NM_005236.3	NP_005227.1:p.(Leu84=)	NC_000016.9:g.14015932C>T	(Likely) benign	3 labs	b6934faee2
7:30058714 FKBP14 C>G	7	30058714	30058714	C	G	FKBP14	c.375G>C	NM_017946.4	NP_060416.1:p.(Leu125=)	NC_000007.13:g.30058714C>G	(Likely) benign	2 labs	b695fef823
11:47433573 SLC39A13 C>T	11	47433573	47433573	C	T	SLC39A13	c.398C>T	NM_001128225.3	NP_001121697.2:p.(Thr133Met)	NC_000011.9:g.47433573C>T	(Likely) benign	2 labs	b6b2381364
2:179642162 TTN T>C	2	179642162	179642162	T	C	TTN	c.4630A>G	NM_001267550.2	NP_001254479.2:p.(Ile1544Val)	NC_000002.11:g.179642162T>C	(Likely) benign	6 labs	b6eacd7b9f
5:149509446 PDGFRB C>T	5	149509446	149509446	C	T	PDGFRB	c.1453G>A	NM_002609.4	NP_002600.1:p.(Glu485Lys)	NC_000005.9:g.149509446C>T	(Likely) benign	2 labs	b72183d14e
6:119137445 MCM9 C>A	6	119137445	119137445	C	A	MCM9	c.1974G>T	NM_017696.3	NP_060166.2:p.(Gln658His)	NC_000006.11:g.119137445C>A	(Likely) benign	3 labs	b773dcc3d1
7:6026959 PMS2 G>C	7	6026959	6026959	G	C	PMS2	c.1437C>G	NM_000535.7	NP_000526.2:p.(His479Gln)	NC_000007.13:g.6026959G>C	(Likely) benign	6 labs	b78e531f87
X:32459449 DMD A>G	X	32459449	32459449	A	G	DMD	c.3787-18T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32459449A>G	(Likely) benign	4 labs	b7a4e7fc21
4:1954945 NSD2 A>G	4	1954945	1954945	A	G	NSD2	c.2138-106A>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1954945A>G	(Likely) benign	2 labs	b7b9ed5d7b
19:7184614 INSR G>A	19	7184614	7184614	G	A	INSR	c.687C>T	NM_000208.4	NP_000199.2:p.(Thr229=)	NC_000019.9:g.7184614G>A	(Likely) benign	2 labs	b7ba6364f0
7:128498371 FLNC C>T	7	128498371	128498371	C	T	FLNC	c.7991-19C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498371C>T	(Likely) benign	4 labs	b7c72b6eff
1:17354373 SDHB GGAA>G	1	17354373	17354397	GGAA	G	SDHB	c.424-16_424-14del	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17354395_17354397del	(Likely) benign	2 labs	b7d0fc31d6
1:160090993 ATP1A2 G>A	1	160090993	160090993	G	A	ATP1A2	c.129G>A	NM_000702.4	NP_000693.1:p.(Lys43=)	NC_000001.10:g.160090993G>A	(Likely) benign	2 labs	b7e9bcce1c
1:45293318 PTCH2 G>A	1	45293318	45293318	G	A	PTCH2	c.2127C>T	NM_003738.5	NP_003729.3:p.(Asp709=)	NC_000001.10:g.45293318G>A	(Likely) benign	2 labs	b7ee73f96a
X:100662681 GLA T>C	X	100662681	100662681	T	C	GLA	c.194+17A>G	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100662681T>C	(Likely) benign	4 labs	b80e449a6e
2:219678877 CYP27A1 C>T	2	219678877	219678877	C	T	CYP27A1	c.1151C>T	NM_000784.4	NP_000775.1:p.(Pro384Leu)	NC_000002.11:g.219678877C>T	(Likely) benign	4 labs	b81c24074d
1:160098871 ATP1A2 G>A	1	160098871	160098871	G	A	ATP1A2	c.1318G>A	NM_000702.4	NP_000693.1:p.(Val440Met)	NC_000001.10:g.160098871G>A	VUS	5 labs	b849e9a03c
1:173808677 DARS2 G>A	1	173808677	173808677	G	A	DARS2	c.1013G>A	NM_018122.5	NP_060592.2:p.(Gly338Glu)	NC_000001.10:g.173808677G>A	(Likely) benign	2 labs	b852fc1724
15:99467156 IGF1R A>G	15	99467156	99467156	A	G	IGF1R	c.2537A>G	NM_000875.5	NP_000866.1:p.(Asn846Ser)	NC_000015.9:g.99467156A>G	(Likely) benign	3 labs	b855328f4e
16:23649206 PALB2 GACAA>G	16	23649206	23649214	GACAA	G	PALB2	c.172_175del	NM_024675.4	NP_078951.2:p.(Gln60ArgfsTer7)	NC_000016.9:g.23649211_23649214del	(Likely) pathogenic	5 labs	b86b3dbd70
5:149509508 PDGFRB G>A	5	149509508	149509508	G	A	PDGFRB	c.1391C>T	NM_002609.4	NP_002600.1:p.(Thr464Met)	NC_000005.9:g.149509508G>A	(Likely) benign	2 labs	b87ae63c20
11:62460120 BSCL2 G>A	11	62460120	62460120	G	A	BSCL2	c.765+15C>T	NM_001122955.4	NP_001116427.1:p.?	NC_000011.9:g.62460120G>A	(Likely) benign	2 labs	b889a077b5
7:42005836 GLI3 C>G	7	42005836	42005836	C	G	GLI3	c.2835G>C	NM_000168.6	NP_000159.3:p.(Leu945=)	NC_000007.13:g.42005836C>G	(Likely) benign	4 labs	b89aec42df
17:63533744 AXIN2 G>A	17	63533744	63533744	G	A	AXIN2	c.1410C>T	NM_004655.4	NP_004646.3:p.(His470=)	NC_000017.10:g.63533744G>A	(Likely) benign	2 labs	b8b79db614
2:71780248 DYSF C>T	2	71780248	71780248	C	T	DYSF	c.1914C>T	NM_001130987.2	NP_001124459.1:p.(Tyr638=)	NC_000002.11:g.71780248C>T	(Likely) benign	2 labs	b8c3780bb3
6:52878494 CILK1 AGCAACGGGCTTG>A	6	52878494	52878508	AGCAACGGGCTTG	A	CILK1	c.1106_1117del	NM_014920.5	NP_055735.1:p.(Pro369_Leu372del)	NC_000006.11:g.52878497_52878508del	(Likely) benign	3 labs	b8d2c584bc
2:233127979 DIS3L2 T>C	2	233127979	233127979	T	C	DIS3L2	c.1488T>C	NM_152383.5	NP_689596.4:p.(His496=)	NC_000002.11:g.233127979T>C	(Likely) benign	2 labs	b8d5b3ec8d
16:1573885 IFT140 G>A	16	1573885	1573885	G	A	IFT140	c.3214C>T	NM_014714.4	NP_055529.2:p.(Arg1072Ter)	NC_000016.9:g.1573885G>A	(Likely) pathogenic	4 labs	b8df305322
15:89401825 ACAN T>C	15	89401825	89401825	T	C	ACAN	c.6009T>C	NM_001369268.1	NP_001356197.1:p.(Tyr2003=)	NC_000015.9:g.89401825T>C	(Likely) benign	2 labs	b8e7ea6c4b
12:121416864 HNF1A C>T	12	121416864	121416864	C	T	HNF1A	c.293C>T	NM_000545.8	NP_000536.6:p.(Ala98Val)	NC_000012.11:g.121416864C>T	(Likely) benign	2 labs	b90288b395
16:2162839 PKD1 T>C	16	2162839	2162839	T	C	PKD1	c.3111A>G	NM_001009944.3	NP_001009944.3:p.(Leu1037=)	NC_000016.9:g.2162839T>C	(Likely) benign	2 labs	b90fafa456
22:45921523 FBLN1 G>A	22	45921523	45921523	G	A	FBLN1	c.286G>A	NM_006486.3	NP_006477.3:p.(Gly96Ser)	NC_000022.10:g.45921523G>A	(Likely) benign	2 labs	b93d9b0b3c
10:88439895 LDB3 C>T	10	88439895	88439895	C	T	LDB3	c.302C>T	NM_007078.3	NP_009009.1:p.(Pro101Leu)	NC_000010.10:g.88439895C>T	(Likely) benign	5 labs	b948cb87f9
11:47354442 MYBPC3 C>T	11	47354442	47354442	C	T	MYBPC3	c.3413G>A	NM_000256.3	NP_000247.2:p.(Arg1138His)	NC_000011.9:g.47354442C>T	(Likely) benign	4 labs	b95825618a
19:855587 ELANE C>T	19	855587	855587	C	T	ELANE	c.390C>T	NM_001972.4	NP_001963.1:p.(Asn130=)	NC_000019.9:g.855587C>T	(Likely) benign	2 labs	b98bd70cec
21:47546390 COL6A2 T>TGGCCCGGCCCGGCCC	21	47546390	47546400	T	TGGCCCGGCCCGGCCC	COL6A2	c.2423-18_2423-17insCGGCCCGGCCCGGCC	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47546399_47546400insCGGCCCGGCCCGGCC	(Likely) benign	2 labs	b9b0ac5ce8
13:32937521 BRCA2 G>A	13	32937521	32937521	G	A	BRCA2	c.8182G>A	NM_000059.4	NP_000050.3:p.(Val2728Ile)	NC_000013.10:g.32937521G>A	(Likely) benign	7 labs	b9ee1ad1e2
12:46242731 ARID2 A>G	12	46242731	46242731	A	G	ARID2	c.1693A>G	NM_152641.4	NP_689854.2:p.(Thr565Ala)	NC_000012.11:g.46242731A>G	VUS	2 labs	b9f06feafb
21:47545892 COL6A2 G>A	21	47545892	47545892	G	A	COL6A2	c.2163G>A	NM_001849.4	NP_001840.3:p.(Gln721=)	NC_000021.8:g.47545892G>A	(Likely) benign	2 labs	ba2e036ffe
5:149512407 PDGFRB G>A	5	149512407	149512407	G	A	PDGFRB	c.1033C>T	NM_002609.4	NP_002600.1:p.(Pro345Ser)	NC_000005.9:g.149512407G>A	(Likely) benign	2 labs	ba67fcae27
6:116442686 COL10A1 C>T	6	116442686	116442686	C	T	COL10A1	c.593G>A	NM_000493.4	NP_000484.2:p.(Arg198His)	NC_000006.11:g.116442686C>T	(Likely) benign	2 labs	ba7a9cea0e
12:48393781 COL2A1 G>A	12	48393781	48393781	G	A	COL2A1	c.213C>T	NM_001844.5	NP_001835.3:p.(Asp71=)	NC_000012.11:g.48393781G>A	(Likely) benign	4 labs	ba8a51368c
9:94486381 ROR2 G>A	9	94486381	94486381	G	A	ROR2	c.2395C>T	NM_004560.4	NP_004551.2:p.(Pro799Ser)	NC_000009.11:g.94486381G>A	(Likely) benign	3 labs	ba979fdc9f
11:62457948 BSCL2 A>G	11	62457948	62457948	A	G	BSCL2	c.1280T>C	NM_001122955.4	NP_001116427.1:p.(Leu427Pro)	NC_000011.9:g.62457948A>G	(Likely) benign	5 labs	bac67c1867
3:57994565 FLNB A>G	3	57994565	57994565	A	G	FLNB	c.274A>G	NM_001457.4	NP_001448.2:p.(Ile92Val)	NC_000003.11:g.57994565A>G	(Likely) benign	2 labs	bb080ddd15
7:92763372 SAMD9L C>T	7	92763372	92763372	C	T	SAMD9L	c.1913G>A	NM_152703.5	NP_689916.2:p.(Arg638His)	NC_000007.13:g.92763372C>T	(Likely) benign	2 labs	bb182423b3
20:57428947 GNAS G>A	20	57428947	57428947	G	A	GNAS	c.440G>A	NM_001077490.1	NP_001070958.1:p.(Arg147Lys)	NC_000020.10:g.57428947G>A	(Likely) benign	3 labs	bb5332b568
7:45113054 CCM2 C>T	7	45113054	45113054	C	T	CCM2	c.804-5C>T	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45113054C>T	(Likely) benign	3 labs	bb651406c5
9:21970916 CDKN2A C>T	9	21970916	21970916	C	T	CDKN2A	c.442G>A	NM_000077.5	NP_000068.1:p.(Ala148Thr)	NC_000009.11:g.21970916C>T	(Likely) benign	6 labs	bb72d3fcb3
2:179404197 TTN T>C	2	179404197	179404197	T	C	TTN	c.98595A>G	NM_001267550.2	NP_001254479.2:p.(Glu32865=)	NC_000002.11:g.179404197T>C	(Likely) benign	5 labs	bba109bb98
19:11151970 SMARCA4 A>G	19	11151970	11151970	A	G	SMARCA4	c.4171-13A>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11151970A>G	(Likely) benign	2 labs	bbaa86176c
16:2142942 PKD1 C>T	16	2142942	2142942	C	T	PKD1	c.11156+13G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2142942C>T	(Likely) benign	2 labs	bbde9d87a3
11:68131207 LRP5 G>A	11	68131207	68131207	G	A	LRP5	c.687-8G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68131207G>A	(Likely) benign	4 labs	bbe9ef0a0a
17:29559061 NF1 AT>A	17	29559061	29559087	AT	A	NF1	c.3198-4del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559087del	(Likely) benign	2 labs	bc4719458b
5:79950567 DHFR G>A	5	79950567	79950567	G	A	DHFR	c.-259C>T	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950567G>A	(Likely) benign	2 labs	bc53df162c
16:2164810 PKD1 G>C	16	2164810	2164810	G	C	PKD1	c.2214C>G	NM_001009944.3	NP_001009944.3:p.(Pro738=)	NC_000016.9:g.2164810G>C	(Likely) benign	2 labs	bc65acdc8d
2:179591917 TTN T>C	2	179591917	179591917	T	C	TTN	c.20175A>G	NM_001267550.2	NP_001254479.2:p.(Ile6725Met)	NC_000002.11:g.179591917T>C	(Likely) benign	5 labs	bc67e3492c
2:179444289 TTN A>G	2	179444289	179444289	A	G	TTN	c.67635T>C	NM_001267550.2	NP_001254479.2:p.(Val22545=)	NC_000002.11:g.179444289A>G	(Likely) benign	5 labs	bc74a15765
19:38991600 RYR1 C>T	19	38991600	38991600	C	T	RYR1	c.7584C>T	NM_000540.3	NP_000531.2:p.(Pro2528=)	NC_000019.9:g.38991600C>T	(Likely) benign	2 labs	bc9016eeb1
2:179633613 TTN C>T	2	179633613	179633613	C	T	TTN	c.8950G>A	NM_001267550.2	NP_001254479.2:p.(Asp2984Asn)	NC_000002.11:g.179633613C>T	VUS	2 labs	bc93c9dd54
13:52539030 ATP7B C>T	13	52539030	52539030	C	T	ATP7B	c.1847G>A	NM_000053.4	NP_000044.2:p.(Arg616Gln)	NC_000013.10:g.52539030C>T	(Likely) pathogenic	2 labs	bca5c3609f
11:62474608 BSCL2 G>C	11	62474608	62474608	G	C	BSCL2	c.60C>G	NM_001122955.4	NP_001116427.1:p.(Asp20Glu)	NC_000011.9:g.62474608G>C	(Likely) benign	2 labs	bcae0350d9
X:74334588 ABCB7 C>T	X	74334588	74334588	C	T	ABCB7	c.246+1G>A	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74334588C>T	(Likely) benign	2 labs	bd0500e036
17:7128292 ACADVL G>A	17	7128292	7128292	G	A	ACADVL	c.1844G>A	NM_000018.4	NP_000009.1:p.(Arg615Gln)	NC_000017.10:g.7128292G>A	(Likely) benign	5 labs	bd4de8d3d5
14:23886155 MYH7 A>G	14	23886155	23886155	A	G	MYH7	c.4566T>C	NM_000257.4	NP_000248.2:p.(Thr1522=)	NC_000014.8:g.23886155A>G	(Likely) benign	5 labs	bdae9a2d56
2:179582913 TTN C>T	2	179582913	179582913	C	T	TTN	c.24820G>A	NM_001267550.2	NP_001254479.2:p.(Glu8274Lys)	NC_000002.11:g.179582913C>T	(Likely) benign	6 labs	bdba5781a2
7:6042301 PMS2 G>C	7	6042301	6042301	G	C	PMS2	c.354-34C>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6042301G>C	(Likely) benign	3 labs	bde15d64b5
8:48852225 PRKDC C>T	8	48852225	48852225	C	T	PRKDC	c.999G>A	NM_006904.7	NP_008835.5:p.(Met333Ile)	NC_000008.10:g.48852225C>T	(Likely) benign	2 labs	bdf3e115dd
14:77743842 POMT2 T>C	14	77743842	77743842	T	C	POMT2	c.2148-18A>G	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77743842T>C	(Likely) benign	2 labs	be34571ce8
10:97444321 TCTN3 C>T	10	97444321	97444321	C	T	TCTN3	c.1030G>A	NM_015631.6	NP_056446.4:p.(Gly344Arg)	NC_000010.10:g.97444321C>T	(Likely) benign	3 labs	be59a356d1
21:44480637 CBS C>T	21	44480637	44480637	C	T	CBS	c.1059G>A	NM_000071.3	NP_000062.1:p.(Thr353=)	NC_000021.8:g.44480637C>T	(Likely) benign	3 labs	be9dc3fec8
12:7343108 PEX5 GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA>G	12	7343108	7343241	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	PEX5	c.147+77_147+121del	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7343197_7343241del	(Likely) benign	5 labs	beb05c14d6
7:128492817 FLNC G>A	7	128492817	128492817	G	A	FLNC	c.6004+11G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492817G>A	(Likely) benign	3 labs	bec43427ab
13:32929338 BRCA2 AATGAC>A	13	32929338	32929344	AATGAC	A	BRCA2	c.7350_7354del	NM_000059.4	NP_000050.3:p.(Asn2450LysfsTer2)	NC_000013.10:g.32929340_32929344del	(Likely) pathogenic	2 labs	bec5a3862f
19:42474710 ATP1A3 G>A	19	42474710	42474710	G	A	ATP1A3	c.2264-16C>T	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42474710G>A	(Likely) benign	4 labs	bed79e837f
17:41219732 BRCA1 T>C	17	41219732	41219732	T	C	BRCA1	c.4987-20A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219732T>C	(Likely) benign	4 labs	beedb10b2b
12:48381045 COL2A1 C>T	12	48381045	48381045	C	T	COL2A1	c.1266+7G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48381045C>T	(Likely) benign	3 labs	bef8675c51
7:128480666 FLNC C>T	7	128480666	128480666	C	T	FLNC	c.1614C>T	NM_001458.5	NP_001449.3:p.(Tyr538=)	NC_000007.13:g.128480666C>T	(Likely) benign	3 labs	bf06f6f31b
2:179582063 TTN A>T	2	179582063	179582063	A	T	TTN	c.25398T>A	NM_001267550.2	NP_001254479.2:p.(Asp8466Glu)	NC_000002.11:g.179582063A>T	(Likely) benign	5 labs	bf2bccd8e3
2:73118535 SPR C>T	2	73118535	73118535	C	T	SPR	c.655C>T	NM_003124.5	NP_003115.1:p.(Arg219Ter)	NC_000002.11:g.73118535C>T	(Likely) pathogenic	2 labs	bf4f7b2cb4
5:127727853 FBN2 G>A	5	127727853	127727853	G	A	FBN2	c.1466-5C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127727853G>A	(Likely) benign	2 labs	bf51187176
5:112178212 APC G>A	5	112178212	112178212	G	A	APC	c.6921G>A	NM_000038.6	NP_000029.2:p.(Ser2307=)	NC_000005.9:g.112178212G>A	(Likely) benign	6 labs	bfd1170a37
14:74973906 LTBP2 T>C	14	74973906	74973906	T	C	LTBP2	c.3883A>G	NM_000428.3	NP_000419.1:p.(Met1295Val)	NC_000014.8:g.74973906T>C	(Likely) benign	2 labs	c0069bed55
16:51171279 SALL1 G>A	16	51171279	51171279	G	A	SALL1	c.3719C>T	NM_002968.3	NP_002959.2:p.(Ala1240Val)	NC_000016.9:g.51171279G>A	VUS	2 labs	c021701d9f
1:22169325 HSPG2 C>T	1	22169325	22169325	C	T	HSPG2	c.8848G>A	NM_005529.7	NP_005520.4:p.(Gly2950Arg)	NC_000001.10:g.22169325C>T	(Likely) benign	2 labs	c02c04f6e2
11:46886077 LRP4 A>T	11	46886077	46886077	A	T	LRP4	c.5165T>A	NM_002334.4	NP_002325.2:p.(Leu1722His)	NC_000011.9:g.46886077A>T	(Likely) benign	2 labs	c0410c78cb
12:22025671 ABCC9 A>G	12	22025671	22025671	A	G	ABCC9	c.2093-7T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22025671A>G	(Likely) benign	5 labs	c04c110745
20:18507010 SEC23B A>G	20	18507010	18507010	A	G	SEC23B	c.835-7A>G	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18507010A>G	(Likely) benign	2 labs	c05d170da1
19:13428124 CACNA1A C>T	19	13428124	13428124	C	T	CACNA1A	c.1357G>A	NM_001127222.2	NP_001120694.1:p.(Ala453Thr)	NC_000019.9:g.13428124C>T	(Likely) benign	4 labs	c092215553
11:103093822 DYNC2H1 G>A	11	103093822	103093822	G	A	DYNC2H1	c.9353+7G>A	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103093822G>A	(Likely) benign	2 labs	c09c8cc1d0
2:179446381 TTN C>T	2	179446381	179446381	C	T	TTN	c.66614G>A	NM_001267550.2	NP_001254479.2:p.(Arg22205Lys)	NC_000002.11:g.179446381C>T	(Likely) benign	6 labs	c0f57f493b
2:179424048 TTN T>C	2	179424048	179424048	T	C	TTN	c.86811A>G	NM_001267550.2	NP_001254479.2:p.(Val28937=)	NC_000002.11:g.179424048T>C	(Likely) benign	5 labs	c119f01afa
X:31986607 DMD G>A	X	31986607	31986607	G	A	DMD	c.6463C>T	NM_004006.3	NP_003997.2:p.(Arg2155Trp)	NC_000023.10:g.31986607G>A	(Likely) benign	5 labs	c12e95b0b4
19:38979891 RYR1 A>G	19	38979891	38979891	A	G	RYR1	c.5622A>G	NM_000540.3	NP_000531.2:p.(Glu1874=)	NC_000019.9:g.38979891A>G	(Likely) benign	3 labs	c3e2eb7381
10:99359925 HOGA1 G>T	10	99359925	99359925	G	T	HOGA1	c.700+5G>T	NM_138413.4	NP_612422.2:p.?	NC_000010.10:g.99359925G>T	(Likely) pathogenic	4 labs	c137ab16b6
11:118307316 KMT2A C>G	11	118307316	118307316	C	G	KMT2A	c.89C>G	NM_001197104.2	NP_001184033.1:p.(Ala30Gly)	NC_000011.9:g.118307316C>G	(Likely) benign	2 labs	c15f09c01e
2:179472597 TTN A>G	2	179472597	179472597	A	G	TTN	c.52917T>C	NM_001267550.2	NP_001254479.2:p.(Asp17639=)	NC_000002.11:g.179472597A>G	(Likely) benign	4 labs	c1652e8de9
17:59924505 BRIP1 A>G	17	59924505	59924505	A	G	BRIP1	c.584T>C	NM_032043.3	NP_114432.2:p.(Leu195Pro)	NC_000017.10:g.59924505A>G	(Likely) benign	6 labs	c17e1764fb
16:2142113 PKD1 G>A	16	2142113	2142113	G	A	PKD1	c.11346C>T	NM_001009944.3	NP_001009944.3:p.(Asp3782=)	NC_000016.9:g.2142113G>A	(Likely) benign	2 labs	c186d03797
2:179665163 TTN C>T	2	179665163	179665163	C	T	TTN	c.542G>A	NM_001267550.2	NP_001254479.2:p.(Ser181Asn)	NC_000002.11:g.179665163C>T	(Likely) benign	4 labs	c1c5fc696f
20:57429775 GNAS C>A	20	57429775	57429775	C	A	GNAS	c.1268C>A	NM_001077490.1	NP_001070958.1:p.(Pro423His)	NC_000020.10:g.57429775C>A	(Likely) benign	4 labs	c1f797e567
2:179410815 TTN G>A	2	179410815	179410815	G	A	TTN	c.95148C>T	NM_001267550.2	NP_001254479.2:p.(Thr31716=)	NC_000002.11:g.179410815G>A	(Likely) benign	5 labs	c22c0a35d8
X:31496426 DMD T>C	X	31496426	31496426	T	C	DMD	c.8734A>G	NM_004006.3	NP_003997.2:p.(Asn2912Asp)	NC_000023.10:g.31496426T>C	(Likely) benign	5 labs	c2597bde42
16:89833576 FANCA G>C	16	89833576	89833576	G	C	FANCA	c.2574C>G	NM_000135.4	NP_000126.2:p.(Ser858Arg)	NC_000016.9:g.89833576G>C	(Likely) benign	3 labs	c261c2743a
1:45292926 PTCH2 C>G	1	45292926	45292926	C	G	PTCH2	c.2427G>C	NM_003738.5	NP_003729.3:p.(Ser809=)	NC_000001.10:g.45292926C>G	(Likely) benign	2 labs	c26bd5ac44
5:151266335 GLRA1 C>T	5	151266335	151266335	C	T	GLRA1	c.199G>A	NM_000171.4	NP_000162.2:p.(Val67Met)	NC_000005.9:g.151266335C>T	VUS	2 labs	c28b682542
2:48033890 MSH6 CTTT>C	2	48033890	48033908	CTTT	C	MSH6	c.4002-12_4002-10del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033906_48033908del	(Likely) benign	3 labs	c2b593621e
11:108139120 ATM G>T	11	108139120	108139120	G	T	ATM	c.2639-17G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139120G>T	(Likely) benign	4 labs	c2c18e72e6
2:152506811 NEB C>T	2	152506811	152506811	C	T	NEB	c.7310G>A	NM_001164508.2	NP_001157980.2:p.(Arg2437Gln)	NC_000002.11:g.152506811C>T	(Likely) benign	2 labs	c2e26b441a
16:1570059 IFT140 G>A	16	1570059	1570059	G	A	IFT140	c.3874-11C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1570059G>A	(Likely) benign	2 labs	c30e039be9
4:88957370 PKD2 A>G	4	88957370	88957370	A	G	PKD2	c.710-2A>G	NM_000297.3	NP_000288.1:p.?	NC_000004.11:g.88957370A>G	(Likely) pathogenic	3 labs	c310a0a85f
16:68729833 CDH3 C>T	16	68729833	68729833	C	T	CDH3	c.2280+7C>T	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68729833C>T	(Likely) benign	2 labs	c33ddba805
9:98209490 PTCH1 G>A	9	98209490	98209490	G	A	PTCH1	c.4048C>T	NM_000264.5	NP_000255.2:p.(Arg1350Trp)	NC_000009.11:g.98209490G>A	(Likely) benign	3 labs	c374af22b7
12:124228414 ATP6V0A2 A>G	12	124228414	124228414	A	G	ATP6V0A2	c.1121A>G	NM_012463.4	NP_036595.2:p.(Lys374Arg)	NC_000012.11:g.124228414A>G	(Likely) benign	2 labs	c3d2c38a22
21:44483184 CBS A>G	21	44483184	44483184	A	G	CBS	c.833T>C	NM_000071.3	NP_000062.1:p.(Ile278Thr)	NC_000021.8:g.44483184A>G	(Likely) pathogenic	5 labs	c3da7a5b45
12:49433883 KMT2D G>A	12	49433883	49433883	G	A	KMT2D	c.7670C>T	NM_003482.4	NP_003473.3:p.(Pro2557Leu)	NC_000012.11:g.49433883G>A	(Likely) benign	3 labs	c40ecc1a1b
X:132826404 GPC3 C>T	X	132826404	132826404	C	T	GPC3	c.1285G>A	NM_004484.4	NP_004475.1:p.(Val429Met)	NC_000023.10:g.132826404C>T	(Likely) benign	4 labs	c41d55d709
3:33059981 GLB1 G>A	3	33059981	33059981	G	A	GLB1	c.1306C>T	NM_000404.4	NP_000395.3:p.(Leu436Phe)	NC_000003.11:g.33059981G>A	(Likely) benign	2 labs	c420041024
4:3475166 DOK7 C>T	4	3475166	3475166	C	T	DOK7	c.134C>T	NM_173660.5	NP_775931.3:p.(Ser45Leu)	NC_000004.11:g.3475166C>T	(Likely) benign	3 labs	c43506d470
5:127744405 FBN2 C>T	5	127744405	127744405	C	T	FBN2	c.1040G>A	NM_001999.4	NP_001990.2:p.(Arg347His)	NC_000005.9:g.127744405C>T	(Likely) benign	3 labs	c448497b43
2:25470960 DNMT3A G>A	2	25470960	25470960	G	A	DNMT3A	c.801C>T	NM_022552.5	NP_072046.2:p.(Ser267=)	NC_000002.11:g.25470960G>A	(Likely) benign	3 labs	c4b837822b
12:112888333 PTPN11 T>G	12	112888333	112888333	T	G	PTPN11	c.332+17T>G	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112888333T>G	(Likely) benign	2 labs	c4ba1b383c
2:71776536 DYSF C>G	2	71776536	71776536	C	G	DYSF	c.1577-1635C>G	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71776536C>G	(Likely) benign	2 labs	c4bd92deb3
6:129513850 LAMA2 T>A	6	129513850	129513850	T	A	LAMA2	c.1634T>A	NM_000426.4	NP_000417.3:p.(Leu545Gln)	NC_000006.11:g.129513850T>A	(Likely) benign	3 labs	c4d6d4fdca
16:2156153 PKD1 C>G	16	2156153	2156153	C	G	PKD1	c.7642G>C	NM_001009944.3	NP_001009944.3:p.(Glu2548Gln)	NC_000016.9:g.2156153C>G	(Likely) benign	2 labs	c5534c972d
16:68857544 CDH1 C>CA	16	68857544	68857546	C	CA	CDH1	c.2164+17dup	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68857546dup	(Likely) benign	4 labs	c58113d2b4
11:108216451 ATM A>G	11	108216451	108216451	A	G	ATM	c.8419-19A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108216451A>G	(Likely) benign	4 labs	c5a5f85379
2:179594590 TTN T>A	2	179594590	179594590	T	A	TTN	c.18390A>T	NM_001267550.2	NP_001254479.2:p.(Thr6130=)	NC_000002.11:g.179594590T>A	(Likely) benign	6 labs	c5bc13e016
11:47469631 RAPSN G>T	11	47469631	47469631	G	T	RAPSN	c.264C>A	NM_005055.5	NP_005046.2:p.(Asn88Lys)	NC_000011.9:g.47469631G>T	(Likely) pathogenic	5 labs	c5bd6cf09f
8:87656899 CNGB3 C>A	8	87656899	87656899	C	A	CNGB3	c.1006G>T	NM_019098.5	NP_061971.3:p.(Glu336Ter)	NC_000008.10:g.87656899C>A	(Likely) pathogenic	2 labs	c5bda3ec0c
1:17380507 SDHB G>C	1	17380507	17380507	G	C	SDHB	c.8C>G	NM_003000.3	NP_002991.2:p.(Ala3Gly)	NC_000001.10:g.17380507G>C	(Likely) benign	2 labs	c5da0c5a47
16:51175655 SALL1 C>CGCT	16	51175655	51175685	C	CGCT	SALL1	c.475_477dup	NM_002968.3	NP_002959.2:p.(Ser159dup)	NC_000016.9:g.51175683_51175685dup	(Likely) benign	4 labs	c60a79d4ae
20:5935875 MCM8 G>A	20	5935875	5935875	G	A	MCM8	c.464G>A	NM_032485.6	NP_115874.3:p.(Cys155Tyr)	NC_000020.10:g.5935875G>A	(Likely) benign	2 labs	c636371621
2:179440163 TTN C>G	2	179440163	179440163	C	G	TTN	c.70696G>C	NM_001267550.2	NP_001254479.2:p.(Gly23566Arg)	NC_000002.11:g.179440163C>G	(Likely) benign	6 labs	c63abe37c6
13:110818595 COL4A1 G>A	13	110818595	110818595	G	A	COL4A1	c.4005C>T	NM_001845.6	NP_001836.3:p.(Gly1335=)	NC_000013.10:g.110818595G>A	(Likely) benign	2 labs	c688038ef2
16:2121869 TSC2 C>T	16	2121869	2121869	C	T	TSC2	c.2031C>T	NM_000548.5	NP_000539.2:p.(Pro677=)	NC_000016.9:g.2121869C>T	(Likely) benign	5 labs	c68ab39ba1
2:179613191 TTN T>C	2	179613191	179613191	T	C	TTN	c.11311+4660A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613191T>C	(Likely) benign	4 labs	c6a483dc18
8:145024578 PLEC G>A	8	145024578	145024578	G	A	PLEC	c.194-11718C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024578G>A	(Likely) benign	3 labs	c6d5223b94
1:46663361 POMGNT1 G>A	1	46663361	46663361	G	A	POMGNT1	c.120+13C>T	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46663361G>A	(Likely) benign	4 labs	c707c76bb3
6:157431700 ARID1B G>A	6	157431700	157431700	G	A	ARID1B	c.2371+5G>A	NM_020732.3	NP_065783.3:p.?	NC_000006.11:g.157431700G>A	(Likely) pathogenic	2 labs	c7445f9f94
5:177421297 PROP1 C>G	5	177421297	177421297	C	G	PROP1	c.152G>C	NM_006261.5	NP_006252.4:p.(Gly51Ala)	NC_000005.9:g.177421297C>G	(Likely) benign	3 labs	c7757277c8
7:128489254 FLNC C>T	7	128489254	128489254	C	T	FLNC	c.4947C>T	NM_001458.5	NP_001449.3:p.(Gly1649=)	NC_000007.13:g.128489254C>T	(Likely) benign	5 labs	c7a353408c
18:60036669 TNFRSF11A G>A	18	60036669	60036669	G	A	TNFRSF11A	c.1519G>A	NM_003839.4	NP_003830.1:p.(Ala507Thr)	NC_000018.9:g.60036669G>A	(Likely) benign	2 labs	c7a4b6003f
2:179612383 TTN C>T	2	179612383	179612383	C	T	TTN	c.11311+5468G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612383C>T	(Likely) benign	3 labs	c7a7d1479e
16:2141776 PKD1 T>TCCC	16	2141776	2141779	T	TCCC	PKD1	c.11537+3_11537+5dup	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2141777_2141779dup	(Likely) benign	2 labs	c7b187ddce
2:179497025 TTN A>G	2	179497025	179497025	A	G	TTN	c.43596T>C	NM_001267550.2	NP_001254479.2:p.(Asn14532=)	NC_000002.11:g.179497025A>G	(Likely) benign	4 labs	c83492e5f1
12:49418435 KMT2D A>C	12	49418435	49418435	A	C	KMT2D	c.15978T>G	NM_003482.4	NP_003473.3:p.(Leu5326=)	NC_000012.11:g.49418435A>C	(Likely) benign	2 labs	c89358681a
X:153589848 FLNA G>A	X	153589848	153589848	G	A	FLNA	c.3035C>T	NM_001110556.2	NP_001104026.1:p.(Ser1012Leu)	NC_000023.10:g.153589848G>A	(Likely) benign	3 labs	c89cfda525
19:39034533 RYR1 C>A	19	39034533	39034533	C	A	RYR1	c.12012+18C>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39034533C>A	(Likely) benign	2 labs	c89ebf27fb
10:68381455 CTNNA3 GA>G	10	68381455	68381456	GA	G	CTNNA3	c.1368del	NM_013266.4	NP_037398.2:p.(Pro457HisfsTer41)	NC_000010.10:g.68381456del	VUS	3 labs	c8ab588b09
3:129155414 MBD4 A>G	3	129155414	129155414	A	G	MBD4	c.1073T>C	NM_001276270.2	NP_001263199.1:p.(Ile358Thr)	NC_000003.11:g.129155414A>G	(Likely) benign	2 labs	c8c07e7f33
9:108377702 FKTN G>A	9	108377702	108377702	G	A	FKTN	c.910+14G>A	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108377702G>A	(Likely) benign	3 labs	c8fb52f2e6
16:3640815 SLX4 C>G	16	3640815	3640815	C	G	SLX4	c.2824G>C	NM_032444.4	NP_115820.2:p.(Glu942Gln)	NC_000016.9:g.3640815C>G	(Likely) benign	2 labs	c951dff7f4
19:38964366 RYR1 C>T	19	38964366	38964366	C	T	RYR1	c.4115C>T	NM_000540.3	NP_000531.2:p.(Ala1372Val)	NC_000019.9:g.38964366C>T	(Likely) benign	2 labs	c990e23946
22:41522003 EP300 A>G	22	41522003	41522003	A	G	EP300	c.865A>G	NM_001429.4	NP_001420.2:p.(Met289Val)	NC_000022.10:g.41522003A>G	(Likely) benign	2 labs	c9930a1803
9:94519645 ROR2 G>A	9	94519645	94519645	G	A	ROR2	c.372C>T	NM_004560.4	NP_004551.2:p.(Asp124=)	NC_000009.11:g.94519645G>A	(Likely) benign	3 labs	c9a6189070
3:10183605 VHL C>T	3	10183605	10183605	C	T	VHL	c.74C>T	NM_000551.4	NP_000542.1:p.(Pro25Leu)	NC_000003.11:g.10183605C>T	(Likely) benign	6 labs	c9e3ed8506
21:47532456 COL6A2 G>A	21	47532456	47532456	G	A	COL6A2	c.679G>A	NM_001849.4	NP_001840.3:p.(Asp227Asn)	NC_000021.8:g.47532456G>A	(Likely) benign	4 labs	c9ef7d47ab
6:70990715 COL9A1 C>T	6	70990715	70990715	C	T	COL9A1	c.904G>A	NM_001851.6	NP_001842.3:p.(Gly302Ser)	NC_000006.11:g.70990715C>T	(Likely) benign	2 labs	ca2ed59e0b
2:179501351 TTN G>A	2	179501351	179501351	G	A	TTN	c.41103C>T	NM_001267550.2	NP_001254479.2:p.(Gly13701=)	NC_000002.11:g.179501351G>A	(Likely) benign	6 labs	ca40db4c72
11:68174189 LRP5 G>A	11	68174189	68174189	G	A	LRP5	c.1999G>A	NM_002335.4	NP_002326.2:p.(Val667Met)	NC_000011.9:g.68174189G>A	(Likely) benign	3 labs	ca5d4ae81b
4:88967919 PKD2 T>G	4	88967919	88967919	T	G	PKD2	c.1445T>G	NM_000297.4	NP_000288.1:p.(Phe482Cys)	NC_000004.11:g.88967919T>G	(Likely) benign	3 labs	ca68fe6d13
7:128481312 FLNC G>A	7	128481312	128481312	G	A	FLNC	c.1902G>A	NM_001458.5	NP_001449.3:p.(Glu634=)	NC_000007.13:g.128481312G>A	(Likely) benign	4 labs	ca6c363e0d
15:89414749 ACAN C>T	15	89414749	89414749	C	T	ACAN	c.7197C>T	NM_001369268.1	NP_001356197.1:p.(Pro2399=)	NC_000015.9:g.89414749C>T	(Likely) benign	2 labs	cad617eb19
15:31360289 TRPM1 G>A	15	31360289	31360289	G	A	TRPM1	c.220C>T	NM_002420.5	NP_002411.3:p.(Arg74Cys)	NC_000015.9:g.31360289G>A	(Likely) pathogenic	2 labs	cadcee4196
8:22049596 BMP1 G>A	8	22049596	22049596	G	A	BMP1	c.1112G>A	NM_006129.5	NP_006120.1:p.(Arg371His)	NC_000008.10:g.22049596G>A	(Likely) benign	3 labs	cb16071532
2:179523753 TTN G>A	2	179523753	179523753	G	A	TTN	c.37432C>T	NM_001267550.2	NP_001254479.2:p.(Pro12478Ser)	NC_000002.11:g.179523753G>A	(Likely) benign	5 labs	cb1ac1d9cf
16:1616275 IFT140 A>G	16	1616275	1616275	A	G	IFT140	c.1788T>C	NM_014714.4	NP_055529.2:p.(Asp596=)	NC_000016.9:g.1616275A>G	(Likely) benign	4 labs	cb20391298
10:89623724 PTEN A>AGCG	10	89623724	89623741	A	AGCG	PTEN	c.-488_-486dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623739_89623741dup	(Likely) benign	3 labs	cb35d8c7a0
7:6026708 PMS2 C>A	7	6026708	6026708	C	A	PMS2	c.1688G>T	NM_000535.7	NP_000526.2:p.(Arg563Leu)	NC_000007.13:g.6026708C>A	(Likely) benign	6 labs	cb8fd1e45e
2:238249631 COL6A3 G>A	2	238249631	238249631	G	A	COL6A3	c.7928C>T	NM_004369.4	NP_004360.2:p.(Ala2643Val)	NC_000002.11:g.238249631G>A	(Likely) benign	2 labs	cbb05b3d4a
6:162206909 PRKN G>A	6	162206909	162206909	G	A	PRKN	c.766C>T	NM_004562.3	NP_004553.2:p.(Arg256Cys)	NC_000006.11:g.162206909G>A	VUS	3 labs	cc2cc781eb
1:45973124 MMACHC G>C	1	45973124	45973124	G	C	MMACHC	c.178G>C	NM_015506.3	NP_056321.2:p.(Asp60His)	NC_000001.10:g.45973124G>C	(Likely) benign	2 labs	cc87aaf3eb
2:179592329 TTN G>A	2	179592329	179592329	G	A	TTN	c.19976C>T	NM_001267550.2	NP_001254479.2:p.(Thr6659Met)	NC_000002.11:g.179592329G>A	(Likely) benign	5 labs	ccab2a5037
13:32900288 BRCA2 G>T	13	32900288	32900288	G	T	BRCA2	c.475+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900288G>T	(Likely) pathogenic	2 labs	ccb7f71892
13:32914814 BRCA2 C>T	13	32914814	32914814	C	T	BRCA2	c.6322C>T	NM_000059.4	NP_000050.3:p.(Arg2108Cys)	NC_000013.10:g.32914814C>T	(Likely) benign	6 labs	ccd772c942
19:7184651 INSR G>GGAGAGAGA	19	7184651	7184672	G	GGAGAGAGA	INSR	c.653-11_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184665_7184672dup	(Likely) benign	2 labs	ccdd9077f3
17:63533771 AXIN2 G>A	17	63533771	63533771	G	A	AXIN2	c.1383C>T	NM_004655.4	NP_004646.3:p.(Ser461=)	NC_000017.10:g.63533771G>A	(Likely) benign	3 labs	cf2270fc40
16:23646942 PALB2 T>C	16	23646942	23646942	T	C	PALB2	c.925A>G	NM_024675.4	NP_078951.2:p.(Ile309Val)	NC_000016.9:g.23646942T>C	(Likely) benign	5 labs	cd0522161b
17:42152143 G6PC3 A>G	17	42152143	42152143	A	G	G6PC3	c.416+5A>G	NM_138387.4	NP_612396.1:p.?	NC_000017.10:g.42152143A>G	(Likely) benign	2 labs	cd2071cd7f
18:19761485 GATA6 C>T	18	19761485	19761485	C	T	GATA6	c.1374C>T	NM_005257.6	NP_005248.2:p.(Asn458=)	NC_000018.9:g.19761485C>T	(Likely) benign	4 labs	cd21b386d8
1:17354373 SDHB G>GGAAGAA	1	17354373	17354397	G	GGAAGAA	SDHB	c.424-19_424-14dup	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17354392_17354397dup	(Likely) benign	3 labs	cd5694d995
1:103496805 COL11A1 G>GAAA	1	103496805	103496818	G	GAAA	COL11A1	c.652-8_652-6dup	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103496816_103496818dup	(Likely) benign	3 labs	cd58e1979e
2:179590329 TTN C>T	2	179590329	179590329	C	T	TTN	c.20602G>A	NM_001267550.2	NP_001254479.2:p.(Gly6868Arg)	NC_000002.11:g.179590329C>T	(Likely) benign	5 labs	cd5a459e32
6:51619706 PKHD1 G>C	6	51619706	51619706	G	C	PKHD1	c.8673C>G	NM_138694.4	NP_619639.3:p.(Arg2891=)	NC_000006.11:g.51619706G>C	(Likely) benign	2 labs	cd6fad5580
2:179497133 TTN C>T	2	179497133	179497133	C	T	TTN	c.43488G>A	NM_001267550.2	NP_001254479.2:p.(Arg14496=)	NC_000002.11:g.179497133C>T	(Likely) benign	5 labs	cd739b6d57
19:38974133 RYR1 G>A	19	38974133	38974133	G	A	RYR1	c.4911G>A	NM_000540.3	NP_000531.2:p.(Ala1637=)	NC_000019.9:g.38974133G>A	(Likely) benign	2 labs	cd8b991b1e
17:41246092 BRCA1 A>G	17	41246092	41246092	A	G	BRCA1	c.1456T>C	NM_007294.4	NP_009225.1:p.(Phe486Leu)	NC_000017.10:g.41246092A>G	(Likely) benign	7 labs	cd951f2ffe
X:55054238 ALAS2 C>T	X	55054238	55054238	C	T	ALAS2	c.-15-1790G>A	NM_000032.5	NP_000023.2:p.?	NC_000023.10:g.55054238C>T	(Likely) benign	3 labs	cdce6097d1
6:129670438 LAMA2 T>A	6	129670438	129670438	T	A	LAMA2	c.4437-5T>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129670438T>A	(Likely) benign	2 labs	cdd1ee392a
11:108139364 ATM T>TA	11	108139364	108139365	T	TA	ATM	c.2838+28_2838+29insA	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139364_108139365insA	(Likely) benign	3 labs	cdd68cd690
17:40371865 STAT5B A>G	17	40371865	40371865	A	G	STAT5B	c.551-5T>C	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40371865A>G	(Likely) benign	2 labs	ce064a0f96
19:15272001 NOTCH3 C>T	19	15272001	15272001	C	T	NOTCH3	c.6438G>A	NM_000435.3	NP_000426.2:p.(Ala2146=)	NC_000019.9:g.15272001C>T	(Likely) benign	3 labs	ce06de6012
13:32972321 BRCA2 T>TA	13	32972321	32972322	T	TA	BRCA2	c.9672dup	NM_000059.4	NP_000050.3:p.(Tyr3225IlefsTer30)	NC_000013.10:g.32972322dup	(Likely) pathogenic	7 labs	ce26992b99
6:119252676 MCM9 A>G	6	119252676	119252676	A	G	MCM9	c.213T>C	NM_017696.3	NP_060166.2:p.(Ser71=)	NC_000006.11:g.119252676A>G	(Likely) benign	2 labs	ce368b4f1c
1:103444970 COL11A1 A>T	1	103444970	103444970	A	T	COL11A1	c.2578T>A	NM_001854.4	NP_001845.3:p.(Phe860Ile)	NC_000001.10:g.103444970A>T	(Likely) benign	4 labs	ce4871a836
19:11362861 DOCK6 C>G	19	11362861	11362861	C	G	DOCK6	c.441G>C	NM_020812.4	NP_065863.2:p.(Lys147Asn)	NC_000019.9:g.11362861C>G	(Likely) benign	2 labs	ce97e01fb7
X:14868798 FANCB TA>T	X	14868798	14868808	TA	T	FANCB	c.1327-3del	NM_001018113.3	NP_001018123.1:p.?	NC_000023.10:g.14868808del	(Likely) benign	2 labs	cecbde7a2c
6:119238904 MCM9 C>T	6	119238904	119238904	C	T	MCM9	c.726G>A	NM_017696.3	NP_060166.2:p.(Gly242=)	NC_000006.11:g.119238904C>T	(Likely) benign	3 labs	cf0b0f11b2
13:32936740 BRCA2 G>A	13	32936740	32936740	G	A	BRCA2	c.7886G>A	NM_000059.4	NP_000050.3:p.(Trp2629Ter)	NC_000013.10:g.32936740G>A	(Likely) pathogenic	3 labs	cf54c8e738
4:1805502 FGFR3 C>T	4	1805502	1805502	C	T	FGFR3	c.1014C>T	NM_000142.5	NP_000133.1:p.(Thr338=)	NC_000004.11:g.1805502C>T	(Likely) benign	4 labs	cf92935490
8:144997786 PLEC G>A	8	144997786	144997786	G	A	PLEC	c.6311C>T	NM_201384.3	NP_958786.1:p.(Ala2104Val)	NC_000008.10:g.144997786G>A	(Likely) benign	3 labs	cf93a2dbc2
2:179472825 TTN T>C	2	179472825	179472825	T	C	TTN	c.52706-17A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472825T>C	(Likely) benign	5 labs	cfc5fc2191
3:184076780 CLCN2 C>T	3	184076780	184076780	C	T	CLCN2	c.203G>A	NM_004366.6	NP_004357.3:p.(Arg68His)	NC_000003.11:g.184076780C>T	(Likely) benign	3 labs	cfc867ba7f
20:5294865 PROKR2 C>T	20	5294865	5294865	C	T	PROKR2	c.151G>A	NM_144773.4	NP_658986.1:p.(Ala51Thr)	NC_000020.10:g.5294865C>T	(Likely) benign	4 labs	cfd5cc5c21
2:215617178 BARD1 C>G	2	215617178	215617178	C	G	BARD1	c.1670G>C	NM_000465.4	NP_000456.2:p.(Cys557Ser)	NC_000002.11:g.215617178C>G	(Likely) benign	4 labs	cfee98de2a
11:108224615 ATM A>C	11	108224615	108224615	A	C	ATM	c.8786+8A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224615A>C	(Likely) benign	6 labs	d0007ed166
2:179416659 TTN C>T	2	179416659	179416659	C	T	TTN	c.90968G>A	NM_001267550.2	NP_001254479.2:p.(Arg30323Lys)	NC_000002.11:g.179416659C>T	(Likely) benign	4 labs	d001228efc
15:23891811 MAGEL2 G>A	15	23891811	23891811	G	A	MAGEL2	c.1079C>T	NM_019066.5	NP_061939.3:p.(Ala360Val)	NC_000015.9:g.23891811G>A	(Likely) benign	3 labs	d01b955827
10:89473069 PAPSS2 TAAA>T	10	89473069	89473091	TAAA	T	PAPSS2	c.381+22_381+24del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473089_89473091del	(Likely) benign	2 labs	d0281c77a0
5:176637192 NSD1 T>C	5	176637192	176637192	T	C	NSD1	c.1792T>C	NM_022455.5	NP_071900.2:p.(Leu598=)	NC_000005.9:g.176637192T>C	(Likely) benign	2 labs	d0448efd2b
3:8787263 CAV3 G>A	3	8787263	8787263	G	A	CAV3	c.166G>A	NM_033337.3	NP_203123.1:p.(Gly56Ser)	NC_000003.11:g.8787263G>A	(Likely) benign	4 labs	d084fd549f
2:152499143 NEB C>T	2	152499143	152499143	C	T	NEB	c.8318G>A	NM_001164508.2	NP_001157980.2:p.(Arg2773Gln)	NC_000002.11:g.152499143C>T	(Likely) benign	2 labs	d08d809d90
2:179428370 TTN C>T	2	179428370	179428370	C	T	TTN	c.82489G>A	NM_001267550.2	NP_001254479.2:p.(Gly27497Arg)	NC_000002.11:g.179428370C>T	(Likely) benign	6 labs	d0b1f44f55
1:43815035 MPL C>T	1	43815035	43815035	C	T	MPL	c.1565+5C>T	NM_005373.3	NP_005364.1:p.?	NC_000001.10:g.43815035C>T	(Likely) benign	2 labs	d0b935c0c6
2:73800058 ALMS1 G>A	2	73800058	73800058	G	A	ALMS1	c.11054G>A	NM_001378454.1	NP_001365383.1:p.(Ser3685Asn)	NC_000002.11:g.73800058G>A	(Likely) benign	3 labs	d0efefae5a
2:179404628 TTN T>A	2	179404628	179404628	T	A	TTN	c.98164A>T	NM_001267550.2	NP_001254479.2:p.(Ile32722Phe)	NC_000002.11:g.179404628T>A	(Likely) benign	2 labs	d0f7e5797e
2:215634004 BARD1 T>C	2	215634004	215634004	T	C	BARD1	c.1347A>G	NM_000465.4	NP_000456.2:p.(Gln449=)	NC_000002.11:g.215634004T>C	(Likely) benign	5 labs	d12dae6618
2:47637439 MSH2 C>T	2	47637439	47637439	C	T	MSH2	c.573C>T	NM_000251.3	NP_000242.1:p.(Leu191=)	NC_000002.11:g.47637439C>T	(Likely) benign	6 labs	d13979bdbf
2:47698122 MSH2 T>C	2	47698122	47698122	T	C	MSH2	c.1680T>C	NM_000251.3	NP_000242.1:p.(Asn560=)	NC_000002.11:g.47698122T>C	(Likely) benign	4 labs	d143346d0e
1:45800156 MUTYH C>T	1	45800156	45800156	C	T	MUTYH	c.22G>A	NM_001048174.2	NP_001041639.1:p.(Val8Met)	NC_000001.10:g.45800156C>T	(Likely) benign	4 labs	d159ec484d
10:89473069 PAPSS2 TAA>T	10	89473069	89473091	TAA	T	PAPSS2	c.381+23_381+24del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473090_89473091del	(Likely) benign	2 labs	d1692ad7f1
13:111156201 COL4A2 C>T	13	111156201	111156201	C	T	COL4A2	c.4146C>T	NM_001846.4	NP_001837.2:p.(Pro1382=)	NC_000013.10:g.111156201C>T	(Likely) benign	2 labs	d1929120dc
3:184071085 CLCN2 A>T	3	184071085	184071085	A	T	CLCN2	c.1981T>A	NM_004366.6	NP_004357.3:p.(Ser661Thr)	NC_000003.11:g.184071085A>T	(Likely) benign	2 labs	d199f91b52
11:118355642 KMT2A A>C	11	118355642	118355642	A	C	KMT2A	c.4284A>C	NM_001197104.2	NP_001184033.1:p.(Ile1428=)	NC_000011.9:g.118355642A>C	(Likely) benign	2 labs	d19c8634fb
1:45795084 MUTYH G>A	1	45795084	45795084	G	A	MUTYH	c.1460C>T	NM_001048174.2	NP_001041639.1:p.(Ser487Phe)	NC_000001.10:g.45795084G>A	(Likely) benign	5 labs	d1eaad4216
9:139089190 LHX3 A>G	9	139089190	139089190	A	G	LHX3	c.1175T>C	NM_178138.6	NP_835258.1:p.(Val392Ala)	NC_000009.11:g.139089190A>G	VUS	2 labs	d212f5af2c
8:94792887 TMEM67 G>A	8	94792887	94792887	G	A	TMEM67	c.781G>A	NM_153704.6	NP_714915.3:p.(Asp261Asn)	NC_000008.10:g.94792887G>A	(Likely) benign	5 labs	d26476a557
2:48018275 MSH6 A>G	2	48018275	48018275	A	G	MSH6	c.457+13A>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48018275A>G	(Likely) benign	6 labs	d27f3d188d
8:10480579 RP1L1 G>A	8	10480579	10480579	G	A	RP1L1	c.133C>T	NM_178857.5	NP_849188.4:p.(Arg45Trp)	NC_000008.10:g.10480579G>A	(Likely) pathogenic	3 labs	d28458d28d
17:41244856 BRCA1 T>C	17	41244856	41244856	T	C	BRCA1	c.2692A>G	NM_007294.4	NP_009225.1:p.(Lys898Glu)	NC_000017.10:g.41244856T>C	(Likely) benign	5 labs	d284e12157
2:179404293 TTN G>A	2	179404293	179404293	G	A	TTN	c.98499C>T	NM_001267550.2	NP_001254479.2:p.(Leu32833=)	NC_000002.11:g.179404293G>A	(Likely) benign	5 labs	d2a28f3233
1:46656472 POMGNT1 G>A	1	46656472	46656472	G	A	POMGNT1	c.1540-16C>T	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46656472G>A	(Likely) benign	2 labs	d2c7bced35
17:10296261 MYH8 G>C	17	10296261	10296261	G	C	MYH8	c.5350C>G	NM_002472.3	NP_002463.2:p.(Arg1784Gly)	NC_000017.10:g.10296261G>C	(Likely) benign	2 labs	d2d1dab10d
17:78082221 GAA C>T	17	78082221	78082221	C	T	GAA	c.1075+13C>T	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78082221C>T	(Likely) benign	3 labs	d2ffb81252
18:48591923 SMAD4 T>C	18	48591923	48591923	T	C	SMAD4	c.1086T>C	NM_005359.6	NP_005350.1:p.(Phe362=)	NC_000018.9:g.48591923T>C	(Likely) benign	4 labs	d32b1c08cd
19:13318217 CACNA1A G>A	19	13318217	13318217	G	A	CACNA1A	c.7431C>T	NM_001127222.2	NP_001120694.1:p.(Tyr2477=)	NC_000019.9:g.13318217G>A	(Likely) benign	2 labs	d33d52c2c1
2:179429301 TTN A>G	2	179429301	179429301	A	G	TTN	c.81558T>C	NM_001267550.2	NP_001254479.2:p.(Asn27186=)	NC_000002.11:g.179429301A>G	(Likely) benign	4 labs	d34b365f07
17:42987562 GFAP C>T	17	42987562	42987562	C	T	GFAP	c.1171+421G>A	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987562C>T	(Likely) benign	2 labs	d38319afb5
2:238255152 COL6A3 T>G	2	238255152	238255152	T	G	COL6A3	c.7086A>C	NM_004369.4	NP_004360.2:p.(Gly2362=)	NC_000002.11:g.238255152T>G	(Likely) benign	2 labs	d39a4f6898
13:32913691 BRCA2 C>T	13	32913691	32913691	C	T	BRCA2	c.5199C>T	NM_000059.4	NP_000050.3:p.(Ser1733=)	NC_000013.10:g.32913691C>T	(Likely) benign	7 labs	d3acf10ce6
17:56772522 RAD51C G>A	17	56772522	56772522	G	A	RAD51C	c.376G>A	NM_058216.3	NP_478123.1:p.(Ala126Thr)	NC_000017.10:g.56772522G>A	(Likely) benign	5 labs	d3cf8846cb
17:59938865 BRIP1 C>A	17	59938865	59938865	C	A	BRIP1	c.36G>T	NM_032043.3	NP_114432.2:p.(Gly12=)	NC_000017.10:g.59938865C>A	(Likely) benign	5 labs	d3dfe0ea98
1:180235728 LHX4 C>T	1	180235728	180235728	C	T	LHX4	c.450C>T	NM_033343.4	NP_203129.1:p.(Asn150=)	NC_000001.10:g.180235728C>T	(Likely) benign	2 labs	d3f53b8c90
4:5758026 EVC G>A	4	5758026	5758026	G	A	EVC	c.1500G>A	NM_153717.3	NP_714928.1:p.(Met500Ile)	NC_000004.11:g.5758026G>A	(Likely) benign	2 labs	d40b4c3d21
2:179604101 TTN C>T	2	179604101	179604101	C	T	TTN	c.13859G>A	NM_001267550.2	NP_001254479.2:p.(Gly4620Asp)	NC_000002.11:g.179604101C>T	(Likely) benign	5 labs	d42df98a1a
14:23901935 MYH7 C>A	14	23901935	23901935	C	A	MYH7	c.415G>T	NM_000257.4	NP_000248.2:p.(Val139Leu)	NC_000014.8:g.23901935C>A	(Likely) pathogenic	3 labs	d43adab926
2:179515472 TTN G>A	2	179515472	179515472	G	A	TTN	c.39709+6C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179515472G>A	(Likely) benign	5 labs	d4654acb1a
5:112174762 APC G>A	5	112174762	112174762	G	A	APC	c.3471G>A	NM_000038.6	NP_000029.2:p.(Glu1157=)	NC_000005.9:g.112174762G>A	(Likely) benign	5 labs	d47b934c49
16:30748482 SRCAP C>A	16	30748482	30748482	C	A	SRCAP	c.7121C>A	NM_006662.3	NP_006653.2:p.(Thr2374Asn)	NC_000016.9:g.30748482C>A	(Likely) benign	2 labs	d47e306718
12:133202781 POLE G>A	12	133202781	133202781	G	A	POLE	c.6453C>T	NM_006231.4	NP_006222.2:p.(Tyr2151=)	NC_000012.11:g.133202781G>A	(Likely) benign	5 labs	d4bf7f0a6c
17:41245090 BRCA1 T>C	17	41245090	41245090	T	C	BRCA1	c.2458A>G	NM_007294.4	NP_009225.1:p.(Lys820Glu)	NC_000017.10:g.41245090T>C	(Likely) benign	6 labs	d4fe8e1b54
1:201035087 CACNA1S G>A	1	201035087	201035087	G	A	CACNA1S	c.2746-14C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201035087G>A	(Likely) benign	2 labs	d536a7172b
17:41245900 BRCA1 T>G	17	41245900	41245900	T	G	BRCA1	c.1648A>C	NM_007294.4	NP_009225.1:p.(Asn550His)	NC_000017.10:g.41245900T>G	(Likely) benign	7 labs	d5398dad1b
15:90188262 KIF7 C>T	15	90188262	90188262	C	T	KIF7	c.2173G>A	NM_198525.3	NP_940927.2:p.(Gly725Ser)	NC_000015.9:g.90188262C>T	(Likely) benign	2 labs	d54fa8ca7b
17:56787304 RAD51C G>A	17	56787304	56787304	G	A	RAD51C	c.790G>A	NM_058216.3	NP_478123.1:p.(Gly264Ser)	NC_000017.10:g.56787304G>A	(Likely) benign	6 labs	d565a50074
X:152994671 ABCD1 C>T	X	152994671	152994671	C	T	ABCD1	c.901-16C>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.152994671C>T	(Likely) benign	2 labs	d5ab81e677
2:211518741 CPS1 C>T	2	211518741	211518741	C	T	CPS1	c.3481-8C>T	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211518741C>T	(Likely) benign	2 labs	d5af4153aa
21:47541477 COL6A2 G>A	21	47541477	47541477	G	A	COL6A2	c.1466G>A	NM_001849.4	NP_001840.3:p.(Arg489Gln)	NC_000021.8:g.47541477G>A	(Likely) benign	3 labs	d5e6f1ee38
16:2164330 PKD1 T>G	16	2164330	2164330	T	G	PKD1	c.2694A>C	NM_001009944.3	NP_001009944.3:p.(Ala898=)	NC_000016.9:g.2164330T>G	(Likely) benign	2 labs	d5f1e185ab
14:64519709 SYNE2 A>T	14	64519709	64519709	A	T	SYNE2	c.9078A>T	NM_182914.3	NP_878918.2:p.(Glu3026Asp)	NC_000014.8:g.64519709A>T	(Likely) benign	3 labs	d60092a867
11:32421533 WT1 T>C	11	32421533	32421533	T	C	WT1	c.1074A>G	NM_024426.6	NP_077744.4:p.(Gln358=)	NC_000011.9:g.32421533T>C	(Likely) benign	4 labs	d603415964
2:179414565 TTN T>A	2	179414565	179414565	T	A	TTN	c.91884A>T	NM_001267550.2	NP_001254479.2:p.(Arg30628Ser)	NC_000002.11:g.179414565T>A	(Likely) benign	5 labs	d67ee04ec2
7:91855891 KRIT1 T>C	7	91855891	91855891	T	C	KRIT1	c.1095A>G	NM_194454.3	NP_919436.1:p.(Gly365=)	NC_000007.13:g.91855891T>C	(Likely) benign	3 labs	d6c6bc77b5
2:166894343 SCN1A A>G	2	166894343	166894343	A	G	SCN1A	c.2889T>C	NM_001165963.4	NP_001159435.1:p.(Ala963=)	NC_000002.11:g.166894343A>G	(Likely) benign	3 labs	d6e50d5ff5
2:32476005 NLRC4 G>A	2	32476005	32476005	G	A	NLRC4	c.928C>T	NM_001199138.2	NP_001186067.1:p.(Arg310Ter)	NC_000002.11:g.32476005G>A	VUS	2 labs	d71a293757
16:1569929 IFT140 C>G	16	1569929	1569929	C	G	IFT140	c.3993G>C	NM_014714.4	NP_055529.2:p.(Gln1331His)	NC_000016.9:g.1569929C>G	(Likely) benign	4 labs	d71b0940d3
4:15572034 CC2D2A G>A	4	15572034	15572034	G	A	CC2D2A	c.3509G>A	NM_001378615.1	NP_001365544.1:p.(Arg1170Lys)	NC_000004.11:g.15572034G>A	(Likely) benign	3 labs	d73519995a
1:94526289 ABCA4 A>C	1	94526289	94526289	A	C	ABCA4	c.1964T>G	NM_000350.3	NP_000341.2:p.(Phe655Cys)	NC_000001.10:g.94526289A>C	(Likely) pathogenic	2 labs	d76de66fb1
9:34459052 DNAI1 G>GT	9	34459052	34459053	G	GT	DNAI1	c.48+2dup	NM_012144.4	NP_036276.1:p.?	NC_000009.11:g.34459053dup	(Likely) pathogenic	5 labs	d7839e0418
17:17125868 FLCN T>A	17	17125868	17125868	T	A	FLCN	c.726A>T	NM_144997.7	NP_659434.2:p.(Thr242=)	NC_000017.10:g.17125868T>A	(Likely) benign	4 labs	d7bf64ff83
21:47817307 PCNT C>G	21	47817307	47817307	C	G	PCNT	c.4345C>G	NM_006031.6	NP_006022.3:p.(Gln1449Glu)	NC_000021.8:g.47817307C>G	(Likely) benign	4 labs	d8380bfed8
2:167094638 SCN9A T>C	2	167094638	167094638	T	C	SCN9A	c.3734A>G	NM_002977.3	NP_002968.1:p.(Asn1245Ser)	NC_000002.11:g.167094638T>C	(Likely) benign	4 labs	d88c35314a
2:152497088 NEB G>A	2	152497088	152497088	G	A	NEB	c.8466C>T	NM_001164508.2	NP_001157980.2:p.(His2822=)	NC_000002.11:g.152497088G>A	(Likely) benign	2 labs	d89c3d91e5
2:240274365 HDAC4 G>A	2	240274365	240274365	G	A	HDAC4	c.22+8C>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240274365G>A	(Likely) benign	2 labs	d8b8f4f69f
3:10128965 FANCD2 C>CT	3	10128965	10128984	C	CT	FANCD2	c.3466+36dup	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10128984dup	(Likely) benign	2 labs	d8bbab0c05
1:45295289 PTCH2 C>A	1	45295289	45295289	C	A	PTCH2	c.1080G>T	NM_003738.5	NP_003729.3:p.(Val360=)	NC_000001.10:g.45295289C>A	(Likely) benign	3 labs	d8f4140420
1:235972432 LYST C>G	1	235972432	235972432	C	G	LYST	c.1686G>C	NM_000081.4	NP_000072.2:p.(Gln562His)	NC_000001.10:g.235972432C>G	(Likely) benign	2 labs	d8fbda7f8e
17:41246062 BRCA1 G>A	17	41246062	41246062	G	A	BRCA1	c.1486C>T	NM_007294.4	NP_009225.1:p.(Arg496Cys)	NC_000017.10:g.41246062G>A	(Likely) benign	6 labs	d9026c0150
1:156084760 LMNA C>T	1	156084760	156084760	C	T	LMNA	c.51C>T	NM_170707.4	NP_733821.1:p.(Ser17=)	NC_000001.10:g.156084760C>T	(Likely) benign	5 labs	d90639108d
22:41574340 EP300 AACCAGTTCCAGC>A	22	41574340	41574353	AACCAGTTCCAGC	A	EP300	c.6627_6638del	NM_001429.4	NP_001420.2:p.(Asn2209_Gln2213delinsLys)	NC_000022.10:g.41574342_41574353del	(Likely) benign	4 labs	d91623bb04
13:108863332 LIG4 C>T	13	108863332	108863332	C	T	LIG4	c.285G>A	NM_206937.2	NP_996820.1:p.(Glu95=)	NC_000013.10:g.108863332C>T	(Likely) benign	2 labs	d95a4d4109
17:41222975 BRCA1 C>T	17	41222975	41222975	C	T	BRCA1	c.4956G>A	NM_007294.4	NP_009225.1:p.(Met1652Ile)	NC_000017.10:g.41222975C>T	(Likely) benign	7 labs	d95d90eb3a
17:41244213 BRCA1 TCTTG>T	17	41244213	41244220	TCTTG	T	BRCA1	c.3331_3334del	NM_007294.4	NP_009225.1:p.(Gln1111AsnfsTer5)	NC_000017.10:g.41244217_41244220del	(Likely) pathogenic	4 labs	d9733843a6
15:89869919 POLG G>A	15	89869919	89869919	G	A	POLG	c.1636C>T	NM_002693.3	NP_002684.1:p.(Arg546Cys)	NC_000015.9:g.89869919G>A	(Likely) benign	2 labs	d9cf775748
6:129813175 LAMA2 T>C	6	129813175	129813175	T	C	LAMA2	c.8028T>C	NM_000426.4	NP_000417.3:p.(Asn2676=)	NC_000006.11:g.129813175T>C	(Likely) benign	3 labs	d9db6219ee
9:98215822 PTCH1 G>A	9	98215822	98215822	G	A	PTCH1	c.3387C>T	NM_000264.5	NP_000255.2:p.(Gly1129=)	NC_000009.11:g.98215822G>A	(Likely) benign	2 labs	d9ef04c7af
1:94506952 ABCA4 G>T	1	94506952	94506952	G	T	ABCA4	c.3335C>A	NM_000350.2	NP_000341.2:p.(Thr1112Asn)	NC_000001.10:g.94506952G>T	(Likely) pathogenic	2 labs	da12944ab1
9:94485971 ROR2 G>C	9	94485971	94485971	G	C	ROR2	c.2805C>G	NM_004560.4	NP_004551.2:p.(Asp935Glu)	NC_000009.11:g.94485971G>C	(Likely) benign	2 labs	da572c8fad
8:117868531 RAD21 TA>T	8	117868531	117868554	TA	T	RAD21	c.815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868554del	(Likely) benign	4 labs	da7014780b
3:10074646 FANCD2 G>C	3	10074646	10074646	G	C	FANCD2	c.195G>C	NM_001018115.3	NP_001018125.1:p.(Gln65His)	NC_000003.11:g.10074646G>C	(Likely) benign	2 labs	da708ffcc7
11:118898370 SLC37A4 T>A	11	118898370	118898370	T	A	SLC37A4	c.593A>T	NM_001164277.2	NP_001157749.1:p.(Asn198Ile)	NC_000011.9:g.118898370T>A	(Likely) benign	5 labs	db0b7e2565
15:89392818 ACAN G>A	15	89392818	89392818	G	A	ACAN	c.1882G>A	NM_001369268.1	NP_001356197.1:p.(Ala628Thr)	NC_000015.9:g.89392818G>A	(Likely) benign	2 labs	db0d71e613
11:108159742 ATM C>T	11	108159742	108159742	C	T	ATM	c.4148C>T	NM_000051.4	NP_000042.3:p.(Ser1383Leu)	NC_000011.9:g.108159742C>T	VUS	7 labs	db1d933542
8:22064904 BMP1 T>C	8	22064904	22064904	T	C	BMP1	c.2450T>C	NM_006129.5	NP_006120.1:p.(Val817Ala)	NC_000008.10:g.22064904T>C	(Likely) benign	2 labs	db2c26285e
9:135946921 CEL C>G	9	135946921	135946921	C	G	CEL	c.2032C>G	NM_001807.6	NP_001798.3:p.(Pro678Ala)	NC_000009.11:g.135946921C>G	(Likely) benign	2 labs	db317a1cf3
13:111077234 COL4A2 T>C	13	111077234	111077234	T	C	COL4A2	c.315+19T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077234T>C	(Likely) benign	2 labs	db4b62d172
2:71740953 DYSF C>G	2	71740953	71740953	C	G	DYSF	c.661C>G	NM_001130987.2	NP_001124459.1:p.(Leu221Val)	NC_000002.11:g.71740953C>G	(Likely) benign	2 labs	db65672d40
16:14042077 ERCC4 A>G	16	14042077	14042077	A	G	ERCC4	c.2624A>G	NM_005236.3	NP_005227.1:p.(Glu875Gly)	NC_000016.9:g.14042077A>G	(Likely) benign	2 labs	db67db7f60
19:38935259 RYR1 C>T	19	38935259	38935259	C	T	RYR1	c.573C>T	NM_000540.3	NP_000531.2:p.(Asp191=)	NC_000019.9:g.38935259C>T	(Likely) benign	3 labs	db71f6bf5f
2:179441917 TTN T>C	2	179441917	179441917	T	C	TTN	c.69145A>G	NM_001267550.2	NP_001254479.2:p.(Ile23049Val)	NC_000002.11:g.179441917T>C	(Likely) benign	4 labs	db9e6d6a1d
11:108124761 ATM T>C	11	108124761	108124761	T	C	ATM	c.2119T>C	NM_000051.4	NP_000042.3:p.(Ser707Pro)	NC_000011.9:g.108124761T>C	(Likely) benign	6 labs	dbe3373fbd
16:1841590 IGFALS G>A	16	1841590	1841590	G	A	IGFALS	c.829C>T	NM_004970.3	NP_004961.1:p.(Arg277Cys)	NC_000016.9:g.1841590G>A	VUS	3 labs	dc4de6f30d
16:2153619 PKD1 G>A	16	2153619	2153619	G	A	PKD1	c.8439C>T	NM_001009944.3	NP_001009944.3:p.(Ser2813=)	NC_000016.9:g.2153619G>A	(Likely) benign	3 labs	dc655abe12
2:179613649 TTN T>G	2	179613649	179613649	T	G	TTN	c.11311+4202A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613649T>G	(Likely) benign	4 labs	dc8f608ae4
4:39267749 WDR19 G>A	4	39267749	39267749	G	A	WDR19	c.3250G>A	NM_025132.4	NP_079408.3:p.(Gly1084Ser)	NC_000004.11:g.39267749G>A	(Likely) benign	3 labs	dca0af45bb
2:73653610 ALMS1 G>A	2	73653610	73653610	G	A	ALMS1	c.1267G>A	NM_001378454.1	NP_001365383.1:p.(Val423Ile)	NC_000002.11:g.73653610G>A	(Likely) benign	4 labs	dd2f5f9a58
3:37067120 MLH1 T>TTA	3	37067120	37067121	T	TTA	MLH1	c.1039-8_1039-7insTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTA	(Likely) benign	5 labs	dd413dbeaa
20:62319919 RTEL1 G>A	20	62319919	62319919	G	A	RTEL1	c.1761G>A	NM_001283009.2	NP_001269938.1:p.(Pro587=)	NC_000020.10:g.62319919G>A	(Likely) benign	3 labs	dd429767a5
6:26093141 HFE G>A	6	26093141	26093141	G	A	HFE	c.845G>A	NM_000410.4	NP_000401.1:p.(Cys282Tyr)	NC_000006.11:g.26093141G>A	(Likely) pathogenic	6 labs	dd66b80d02
8:144992269 PLEC G>A	8	144992269	144992269	G	A	PLEC	c.11720C>T	NM_201384.3	NP_958786.1:p.(Thr3907Met)	NC_000008.10:g.144992269G>A	(Likely) benign	2 labs	dd8404c092
12:112915523 PTPN11 A>G	12	112915523	112915523	A	G	PTPN11	c.922A>G	NM_002834.5	NP_002825.3:p.(Asn308Asp)	NC_000012.11:g.112915523A>G	(Likely) pathogenic	4 labs	dda4a11807
3:178942491 PIK3CA T>G	3	178942491	178942491	T	G	PIK3CA	c.2298T>G	NM_006218.4	NP_006209.2:p.(Leu766=)	NC_000003.11:g.178942491T>G	(Likely) benign	3 labs	ddd4614386
5:127681251 FBN2 C>T	5	127681251	127681251	C	T	FBN2	c.3015G>A	NM_001999.4	NP_001990.2:p.(Leu1005=)	NC_000005.9:g.127681251C>T	(Likely) benign	4 labs	de2336aa71
5:223646 SDHA A>T	5	223646	223646	A	T	SDHA	c.113A>T	NM_004168.4	NP_004159.2:p.(Asp38Val)	NC_000005.9:g.223646A>T	(Likely) benign	3 labs	de240ce3b5
1:120468201 NOTCH2 A>T	1	120468201	120468201	A	T	NOTCH2	c.4238T>A	NM_024408.4	NP_077719.2:p.(Leu1413His)	NC_000001.10:g.120468201A>T	(Likely) benign	4 labs	de32eaf6de
14:105238711 AKT1 G>A	14	105238711	105238711	G	A	AKT1	c.1251C>T	NM_001382430.1	NP_001369359.1:p.(Tyr417=)	NC_000014.8:g.105238711G>A	(Likely) benign	3 labs	de5dcf94f8
14:24709506 TINF2 C>T	14	24709506	24709506	C	T	TINF2	c.1092G>A	NM_001099274.3	NP_001092744.1:p.(Leu364=)	NC_000014.8:g.24709506C>T	(Likely) benign	3 labs	de6851361c
X:153594535 FLNA G>A	X	153594535	153594535	G	A	FLNA	c.1286C>T	NM_001110556.2	NP_001104026.1:p.(Thr429Met)	NC_000023.10:g.153594535G>A	(Likely) benign	4 labs	de795a93f0
10:88476274 LDB3 G>A	10	88476274	88476274	G	A	LDB3	c.1437G>A	NM_001171610.2	NP_001165081.1:p.(Ser479=)	NC_000010.10:g.88476274G>A	(Likely) benign	6 labs	de8faf2b55
8:10480120 RP1L1 T>C	8	10480120	10480120	T	C	RP1L1	c.592A>G	NM_178857.6	NP_849188.4:p.(Thr198Ala)	NC_000008.10:g.10480120T>C	VUS	2 labs	de95ca5486
2:179414992 TTN T>C	2	179414992	179414992	T	C	TTN	c.91573A>G	NM_001267550.2	NP_001254479.2:p.(Ile30525Val)	NC_000002.11:g.179414992T>C	(Likely) benign	4 labs	de9c975d3e
9:35075022 FANCG C>T	9	35075022	35075022	C	T	FANCG	c.1538G>A	NM_004629.2	NP_004620.1:p.(Arg513Gln)	NC_000009.11:g.35075022C>T	(Likely) benign	3 labs	ded45844b4
12:112891083 PTPN11 G>C	12	112891083	112891083	G	C	PTPN11	c.417G>C	NM_002834.3	NP_002825.3:p.(Glu139Asp)	NC_000012.11:g.112891083G>C	(Likely) pathogenic	3 labs	df06962423
10:29779847 SVIL A>C	10	29779847	29779847	A	C	SVIL	c.4121T>G	NM_021738.3	NP_068506.2:p.(Leu1374Arg)	NC_000010.10:g.29779847A>C	(Likely) benign	2 labs	df0a7bcfd5
1:19203725 ALDH4A1 A>G	1	19203725	19203725	A	G	ALDH4A1	c.1162T>C	NM_003748.4	NP_003739.2:p.(Phe388Leu)	NC_000001.10:g.19203725A>G	(Likely) benign	2 labs	df102a8106
19:15285063 NOTCH3 G>T	19	15285063	15285063	G	T	NOTCH3	c.4552C>A	NM_000435.3	NP_000426.2:p.(Leu1518Met)	NC_000019.9:g.15285063G>T	(Likely) benign	2 labs	df10ed090f
8:144991629 PLEC C>T	8	144991629	144991629	C	T	PLEC	c.12360G>A	NM_201384.3	NP_958786.1:p.(Pro4120=)	NC_000008.10:g.144991629C>T	(Likely) benign	2 labs	df13128764
1:120484306 NOTCH2 T>C	1	120484306	120484306	T	C	NOTCH2	c.2824A>G	NM_024408.4	NP_077719.2:p.(Thr942Ala)	NC_000001.10:g.120484306T>C	(Likely) benign	3 labs	df4f4e9643
4:5642249 EVC2 C>T	4	5642249	5642249	C	T	EVC2	c.1462G>A	NM_147127.5	NP_667338.3:p.(Gly488Ser)	NC_000004.11:g.5642249C>T	(Likely) benign	3 labs	df6ea1b1dd
1:235969386 LYST C>T	1	235969386	235969386	C	T	LYST	c.3050G>A	NM_000081.4	NP_000072.2:p.(Ser1017Asn)	NC_000001.10:g.235969386C>T	(Likely) benign	2 labs	df718975cc
17:39913901 JUP G>A	17	39913901	39913901	G	A	JUP	c.1909C>T	NM_002230.4	NP_002221.1:p.(Arg637Cys)	NC_000017.10:g.39913901G>A	VUS	2 labs	df7aa56034
14:95566101 DICER1 AC>A	14	95566101	95566102	AC	A	DICER1	c.4206+15del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566102del	(Likely) benign	2 labs	dfb84ba06e
2:179585745 TTN C>T	2	179585745	179585745	C	T	TTN	c.23001G>A	NM_001267550.2	NP_001254479.2:p.(Thr7667=)	NC_000002.11:g.179585745C>T	(Likely) benign	5 labs	dfed4a16ef
17:33428352 RAD51D G>A	17	33428352	33428352	G	A	RAD51D	c.771C>T	NM_002878.4	NP_002869.3:p.(Ser257=)	NC_000017.10:g.33428352G>A	(Likely) benign	3 labs	dffeacea8c
15:89414644 ACAN G>A	15	89414644	89414644	G	A	ACAN	c.7092G>A	NM_001369268.1	NP_001356197.1:p.(Lys2364=)	NC_000015.9:g.89414644G>A	(Likely) benign	2 labs	e01281dc64
3:184070901 CLCN2 C>T	3	184070901	184070901	C	T	CLCN2	c.2063G>A	NM_004366.6	NP_004357.3:p.(Arg688Gln)	NC_000003.11:g.184070901C>T	(Likely) benign	4 labs	e024bbe2ac
2:47698095 MSH2 G>A	2	47698095	47698095	G	A	MSH2	c.1662-9G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47698095G>A	(Likely) benign	3 labs	e03bb8d95a
20:57430118 GNAS C>G	20	57430118	57430118	C	G	GNAS	c.1611C>G	NM_001077490.1	NP_001070958.1:p.(Ala537=)	NC_000020.10:g.57430118C>G	(Likely) benign	3 labs	e06162d131
20:5937833 MCM8 A>G	20	5937833	5937833	A	G	MCM8	c.548A>G	NM_032485.6	NP_115874.3:p.(Asn183Ser)	NC_000020.10:g.5937833A>G	(Likely) benign	2 labs	e063a9cb16
7:16341105 CRPPA A>G	7	16341105	16341105	A	G	CRPPA	c.790-14T>C	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16341105A>G	(Likely) benign	3 labs	e07b9440ef
8:144997023 PLEC C>T	8	144997023	144997023	C	T	PLEC	c.7074G>A	NM_201384.3	NP_958786.1:p.(Ala2358=)	NC_000008.10:g.144997023C>T	(Likely) benign	4 labs	e08cc380ea
1:40773175 COL9A2 G>C	1	40773175	40773175	G	C	COL9A2	c.955-4C>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40773175G>C	(Likely) benign	3 labs	e097a389b8
1:17354297 SDHB A>G	1	17354297	17354297	A	G	SDHB	c.487T>C	NM_003000.3	NP_002991.2:p.(Ser163Pro)	NC_000001.10:g.17354297A>G	(Likely) benign	4 labs	e0bcede662
17:33430313 RAD51D T>C	17	33430313	33430313	T	C	RAD51D	c.698A>G	NM_002878.4	NP_002869.3:p.(Glu233Gly)	NC_000017.10:g.33430313T>C	(Likely) benign	4 labs	e0c43adc98
17:40369223 STAT5B T>C	17	40369223	40369223	T	C	STAT5B	c.1335A>G	NM_012448.4	NP_036580.2:p.(Glu445=)	NC_000017.10:g.40369223T>C	(Likely) benign	2 labs	e0ce788376
10:89623056 KLLN C>T	10	89623056	89623056	C	T	KLLN				NC_000010.10:g.89623056C>T	(Likely) benign	2 labs	e0ea9d6930
12:39726207 KIF21A G>A	12	39726207	39726207	G	A	KIF21A	c.2821C>T	NM_017641.4	NP_060111.2:p.(Arg941Trp)	NC_000012.11:g.39726207G>A	(Likely) pathogenic	3 labs	e10bfa04b8
6:7586026 DSP G>T	6	7586026	7586026	G	T	DSP	c.8531G>T	NM_004415.4	NP_004406.2:p.(Gly2844Val)	NC_000006.11:g.7586026G>T	VUS	4 labs	e132c030ba
19:36398454 TYROBP G>C	19	36398454	36398454	G	C	TYROBP	c.123C>G	NM_003332.4	NP_003323.1:p.(Gly41=)	NC_000019.9:g.36398454G>C	(Likely) benign	3 labs	e146221a40
17:29586099 NF1 T>G	17	29586099	29586099	T	G	NF1				NC_000017.10:g.29586099T>G	(Likely) pathogenic	2 labs	e15957af87
1:235938388 LYST T>TA	1	235938388	235938399	T	TA	LYST	c.5461-3dup	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235938399dup	(Likely) benign	2 labs	e17d40216c
8:144992049 PLEC G>A	8	144992049	144992049	G	A	PLEC	c.11940C>T	NM_201384.3	NP_958786.1:p.(Ile3980=)	NC_000008.10:g.144992049G>A	(Likely) benign	3 labs	e197b84ec1
20:18513350 SEC23B G>A	20	18513350	18513350	G	A	SEC23B	c.1276G>A	NM_006363.6	NP_006354.2:p.(Val426Ile)	NC_000020.10:g.18513350G>A	(Likely) benign	2 labs	e1d2cdfd18
12:49430947 KMT2D T>C	12	49430947	49430947	T	C	KMT2D	c.10192A>G	NM_003482.4	NP_003473.3:p.(Met3398Val)	NC_000012.11:g.49430947T>C	(Likely) benign	4 labs	e1dbdf9d0b
2:179467100 TTN C>T	2	179467100	179467100	C	T	TTN	c.55029G>A	NM_001267550.2	NP_001254479.2:p.(Arg18343=)	NC_000002.11:g.179467100C>T	(Likely) benign	6 labs	e1eca87ae7
2:179429004 TTN G>A	2	179429004	179429004	G	A	TTN	c.81855C>T	NM_001267550.2	NP_001254479.2:p.(Ile27285=)	NC_000002.11:g.179429004G>A	(Likely) benign	4 labs	e215347c4e
2:215674261 BARD1 C>A	2	215674261	215674261	C	A	BARD1	c.33G>T	NM_000465.4	NP_000456.2:p.(Gln11His)	NC_000002.11:g.215674261C>A	(Likely) benign	6 labs	e25d786605
2:179526962 TTN T>C	2	179526962	179526962	T	C	TTN	c.37040-13A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179526962T>C	(Likely) benign	4 labs	e25ff3ad36
4:1803236 FGFR3 C>T	4	1803236	1803236	C	T	FGFR3	c.588C>T	NM_000142.5	NP_000133.1:p.(Arg196=)	NC_000004.11:g.1803236C>T	(Likely) benign	3 labs	e27a30b5c6
1:160100201 ATP1A2 C>G	1	160100201	160100201	C	G	ATP1A2	c.1652-11C>G	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160100201C>G	(Likely) benign	3 labs	e28127e13b
10:127458937 MMP21 C>T	10	127458937	127458937	C	T	MMP21	c.1203G>A	NM_147191.1	NP_671724.1:p.(Trp401Ter)	NC_000010.10:g.127458937C>T	(Likely) pathogenic	4 labs	e283f7c19d
2:152346522 NEB G>A	2	152346522	152346522	G	A	NEB	c.25367C>T	NM_001164508.2	NP_001157980.2:p.(Thr8456Met)	NC_000002.11:g.152346522G>A	(Likely) benign	3 labs	e2a539ed8f
12:133263886 POLE C>G	12	133263886	133263886	C	G	POLE	c.16G>C	NM_006231.4	NP_006222.2:p.(Gly6Arg)	NC_000012.11:g.133263886C>G	(Likely) benign	4 labs	e2c45aa860
2:179606241 TTN G>C	2	179606241	179606241	G	C	TTN	c.11719C>G	NM_001267550.2	NP_001254479.2:p.(Leu3907Val)	NC_000002.11:g.179606241G>C	(Likely) benign	4 labs	e2c8daf11d
18:19751148 GATA6 G>C	18	19751148	19751148	G	C	GATA6	c.43G>C	NM_005257.6	NP_005248.2:p.(Gly15Arg)	NC_000018.9:g.19751148G>C	(Likely) benign	3 labs	e2ed75767f
2:73680219 ALMS1 TACTC>T	2	73680219	73680225	TACTC	T	ALMS1	c.6568_6571del	NM_001378454.1	NP_001365383.1:p.(Ser2190MetfsTer15)	NC_000002.11:g.73680222_73680225del	(Likely) pathogenic	3 labs	e2ee0513f6
16:2140912 PKD1 G>C	16	2140912	2140912	G	C	PKD1	c.11976C>G	NM_001009944.3	NP_001009944.3:p.(Ala3992=)	NC_000016.9:g.2140912G>C	(Likely) benign	3 labs	e2fd14cecb
1:43804340 MPL G>A	1	43804340	43804340	G	A	MPL	c.340G>A	NM_005373.3	NP_005364.1:p.(Val114Met)	NC_000001.10:g.43804340G>A	(Likely) benign	3 labs	e2fe39bbe0
2:179441295 TTN T>C	2	179441295	179441295	T	C	TTN	c.69676A>G	NM_001267550.2	NP_001254479.2:p.(Ser23226Gly)	NC_000002.11:g.179441295T>C	(Likely) benign	6 labs	e3220a76f1
3:58134505 FLNB A>G	3	58134505	58134505	A	G	FLNB	c.6017A>G	NM_001457.4	NP_001448.2:p.(Lys2006Arg)	NC_000003.11:g.58134505A>G	(Likely) benign	2 labs	e32d3c2f30
3:129195600 IFT122 G>A	3	129195600	129195600	G	A	IFT122	c.1103G>A	NM_052989.3	NP_443715.1:p.(Ser368Asn)	NC_000003.11:g.129195600G>A	(Likely) benign	2 labs	e39745a51a
16:31141651 KAT8 C>T	16	31141651	31141651	C	T	KAT8	c.976C>T	NM_032188.3	NP_115564.2:p.(Arg326Cys)	NC_000016.9:g.31141651C>T	VUS	2 labs	e39b491a5b
2:44174455 LRPPRC C>T	2	44174455	44174455	C	T	LRPPRC	c.2020G>A	NM_133259.4	NP_573566.2:p.(Glu674Lys)	NC_000002.11:g.44174455C>T	(Likely) benign	2 labs	e3c2f94804
19:13319691 CACNA1A G>GGGT	19	13319691	13319693	G	GGGT	CACNA1A	c.6658_6659insACC	NM_001127222.2	NP_001120694.1:p.(His2219dup)	NC_000019.9:g.13319692_13319693insGTG	(Likely) benign	4 labs	e3d7680634
19:38976655 RYR1 C>T	19	38976655	38976655	C	T	RYR1	c.5360C>T	NM_000540.3	NP_000531.2:p.(Pro1787Leu)	NC_000019.9:g.38976655C>T	(Likely) benign	4 labs	e41fe5de33
2:215593522 BARD1 T>C	2	215593522	215593522	T	C	BARD1	c.2212A>G	NM_000465.4	NP_000456.2:p.(Ile738Val)	NC_000002.11:g.215593522T>C	(Likely) benign	4 labs	e422bfe451
11:108160350 ATM C>T	11	108160350	108160350	C	T	ATM	c.4258C>T	NM_000051.4	NP_000042.3:p.(Leu1420Phe)	NC_000011.9:g.108160350C>T	(Likely) benign	6 labs	e42b9bc682
11:2186889 TH G>A	11	2186889	2186889	G	A	TH	c.1200+9C>T	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2186889G>A	(Likely) benign	3 labs	e4525d4e65
2:179401311 TTN C>CA	2	179401311	179401319	C	CA	TTN	c.100172-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179401319dup	(Likely) benign	6 labs	e4557485c5
9:135946855 CEL GC>G	9	135946855	135946863	GC	G	CEL	c.1974del	NM_001807.6	NP_001798.3:p.(Val659CysfsTer45)	NC_000009.11:g.135946863del	(Likely) benign	2 labs	e46070e2fa
11:68157342 LRP5 T>A	11	68157342	68157342	T	A	LRP5	c.1413-7T>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68157342T>A	(Likely) benign	4 labs	e461c34d2b
10:89473069 PAPSS2 TAAAA>T	10	89473069	89473091	TAAAA	T	PAPSS2	c.381+21_381+24del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473088_89473091del	(Likely) benign	2 labs	e473a2172a
9:139410467 NOTCH1 G>A	9	139410467	139410467	G	A	NOTCH1	c.1635C>T	NM_017617.5	NP_060087.3:p.(Asp545=)	NC_000009.11:g.139410467G>A	(Likely) benign	4 labs	e4c2f5760f
1:235938329 LYST A>C	1	235938329	235938329	A	C	LYST	c.5518T>G	NM_000081.4	NP_000072.2:p.(Ser1840Ala)	NC_000001.10:g.235938329A>C	(Likely) benign	3 labs	e4ef108f48
18:48604751 SMAD4 A>G	18	48604751	48604751	A	G	SMAD4	c.1573A>G	NM_005359.6	NP_005350.1:p.(Ile525Val)	NC_000018.9:g.48604751A>G	(Likely) benign	5 labs	e4fe34f7b5
12:133234020 POLE A>G	12	133234020	133234020	A	G	POLE	c.3379-5T>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133234020A>G	(Likely) benign	4 labs	e503b76949
10:27322306 ANKRD26 C>T	10	27322306	27322306	C	T	ANKRD26	c.3655G>A	NM_014915.3	NP_055730.2:p.(Val1219Ile)	NC_000010.10:g.27322306C>T	(Likely) benign	2 labs	e579fef04f
2:233199107 DIS3L2 C>T	2	233199107	233199107	C	T	DIS3L2	c.2187C>T	NM_152383.5	NP_689596.4:p.(Pro729=)	NC_000002.11:g.233199107C>T	(Likely) benign	2 labs	e5b4ca6e75
2:179449579 TTN C>T	2	179449579	179449579	C	T	TTN	c.64789G>A	NM_001267550.2	NP_001254479.2:p.(Val21597Met)	NC_000002.11:g.179449579C>T	(Likely) benign	5 labs	e5cc0968a1
12:48374731 COL2A1 C>G	12	48374731	48374731	C	G	COL2A1	c.2484G>C	NM_001844.5	NP_001835.3:p.(Gly828=)	NC_000012.11:g.48374731C>G	(Likely) benign	2 labs	e7039885b4
2:179428299 TTN G>T	2	179428299	179428299	G	T	TTN	c.82560C>A	NM_001267550.2	NP_001254479.2:p.(Asn27520Lys)	NC_000002.11:g.179428299G>T	(Likely) benign	5 labs	e5ffffe7dc
17:40370345 STAT5B C>T	17	40370345	40370345	C	T	STAT5B	c.993G>A	NM_012448.4	NP_036580.2:p.(Thr331=)	NC_000017.10:g.40370345C>T	(Likely) benign	2 labs	e6048bd262
12:48368085 COL2A1 G>A	12	48368085	48368085	G	A	COL2A1	c.4104C>T	NM_001844.5	NP_001835.3:p.(Pro1368=)	NC_000012.11:g.48368085G>A	(Likely) benign	4 labs	e6070057a5
12:132426489 PUS1 C>T	12	132426489	132426489	C	T	PUS1	c.1197C>T	NM_025215.6	NP_079491.2:p.(Phe399=)	NC_000012.11:g.132426489C>T	(Likely) benign	2 labs	e6482d7a26
16:89613145 SPG7 C>T	16	89613145	89613145	C	T	SPG7	c.1529C>T	NM_003119.4	NP_003110.1:p.(Ala510Val)	NC_000016.9:g.89613145C>T	(Likely) pathogenic	5 labs	e68abfcf17
11:108098592 ATM T>C	11	108098592	108098592	T	C	ATM	c.162T>C	NM_000051.4	NP_000042.3:p.(Tyr54=)	NC_000011.9:g.108098592T>C	(Likely) benign	6 labs	e6c0d44476
1:236914923 ACTN2 A>G	1	236914923	236914923	A	G	ACTN2	c.1810A>G	NM_001103.4	NP_001094.1:p.(Met604Val)	NC_000001.10:g.236914923A>G	(Likely) benign	6 labs	e6d38fe268
3:38523684 ACVR2B C>T	3	38523684	38523684	C	T	ACVR2B	c.1075-5C>T	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38523684C>T	(Likely) benign	3 labs	e73987b1e2
13:110866346 COL4A1 G>A	13	110866346	110866346	G	A	COL4A1	c.161C>T	NM_001845.6	NP_001836.3:p.(Pro54Leu)	NC_000013.10:g.110866346G>A	(Likely) benign	2 labs	e790e0e296
X:153171513 AVPR2 G>T	X	153171513	153171513	G	T	AVPR2	c.553G>T	NM_000054.4	NP_000045.1:p.(Gly185Cys)	NC_000023.10:g.153171513G>T	(Likely) pathogenic	2 labs	e79337413b
13:32912353 BRCA2 TAATA>T	13	32912353	32912360	TAATA	T	BRCA2	c.3865_3868del	NM_000059.4	NP_000050.3:p.(Lys1289AlafsTer3)	NC_000013.10:g.32912357_32912360del	(Likely) pathogenic	3 labs	e7a8889d4f
15:99459314 IGF1R G>T	15	99459314	99459314	G	T	IGF1R	c.1950G>T	NM_000875.5	NP_000866.1:p.(Arg650=)	NC_000015.9:g.99459314G>T	(Likely) benign	3 labs	e7b7c1dc2f
19:7626428 PNPLA6 G>A	19	7626428	7626428	G	A	PNPLA6	c.4078G>A	NM_001166114.2	NP_001159586.1:p.(Gly1360Ser)	NC_000019.9:g.7626428G>A	(Likely) benign	3 labs	e7c4cb1a1f
7:143027865 CLCN1 G>A	7	143027865	143027865	G	A	CLCN1	c.854G>A	NM_000083.3	NP_000074.3:p.(Gly285Glu)	NC_000007.13:g.143027865G>A	(Likely) pathogenic	5 labs	e7c5268bfe
16:1265315 CACNA1H G>A	16	1265315	1265315	G	A	CACNA1H	c.5113G>A	NM_021098.3	NP_066921.2:p.(Ala1705Thr)	NC_000016.9:g.1265315G>A	(Likely) benign	2 labs	e7cce07938
2:152515585 NEB C>T	2	152515585	152515585	C	T	NEB	c.6069G>A	NM_001164508.2	NP_001157980.2:p.(Met2023Ile)	NC_000002.11:g.152515585C>T	(Likely) benign	2 labs	e7eefd32b5
3:121980455 CASR G>A	3	121980455	121980455	G	A	CASR	c.573G>A	NM_000388.4	NP_000379.3:p.(Glu191=)	NC_000003.11:g.121980455G>A	(Likely) benign	3 labs	e815a28339
22:51153371 SHANK3 G>A	22	51153371	51153371	G	A	SHANK3	c.2386G>A	NM_001372044.2	NP_001358973.1:p.(Ala796Thr)	NC_000022.10:g.51153371G>A	(Likely) benign	2 labs	e842551818
2:179512101 TTN C>T	2	179512101	179512101	C	T	TTN	c.40141+7G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179512101C>T	(Likely) benign	4 labs	e88782ad1e
16:23632683 PALB2 C>T	16	23632683	23632683	C	T	PALB2	c.3113G>A	NM_024675.4	NP_078951.2:p.(Trp1038Ter)	NC_000016.9:g.23632683C>T	(Likely) pathogenic	2 labs	e8919bd7dc
6:129813508 LAMA2 T>A	6	129813508	129813508	T	A	LAMA2	c.8124T>A	NM_000426.4	NP_000417.3:p.(Gly2708=)	NC_000006.11:g.129813508T>A	(Likely) benign	3 labs	e8aefb9520
16:3639782 SLX4 G>A	16	3639782	3639782	G	A	SLX4	c.3857C>T	NM_032444.4	NP_115820.2:p.(Ala1286Val)	NC_000016.9:g.3639782G>A	(Likely) benign	4 labs	e8b6fdac36
1:161332307 SDHC G>C	1	161332307	161332307	G	C	SDHC	c.*84G>C	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332307G>C	(Likely) benign	3 labs	e8bc9e7276
14:75515951 MLH3 A>G	14	75515951	75515951	A	G	MLH3	c.408T>C	NM_001040108.2	NP_001035197.1:p.(Asp136=)	NC_000014.8:g.75515951A>G	(Likely) benign	3 labs	e8dd76ba24
X:53263460 IQSEC2 C>T	X	53263460	53263460	C	T	IQSEC2	c.4408G>A	NM_001111125.3	NP_001104595.1:p.(Ala1470Thr)	NC_000023.10:g.53263460C>T	(Likely) benign	5 labs	e8f2d4ba62
19:7142999 INSR C>T	19	7142999	7142999	C	T	INSR	c.2370G>A	NM_000208.4	NP_000199.2:p.(Thr790=)	NC_000019.9:g.7142999C>T	(Likely) benign	2 labs	e9077a6465
19:39034397 RYR1 A>G	19	39034397	39034397	A	G	RYR1	c.11908-14A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39034397A>G	(Likely) benign	2 labs	e939e007b7
17:56798128 RAD51C A>G	17	56798128	56798128	A	G	RAD51C	c.859A>G	NM_058216.3	NP_478123.1:p.(Thr287Ala)	NC_000017.10:g.56798128A>G	(Likely) benign	5 labs	e95432e6e1
9:135946915 CEL G>T	9	135946915	135946915	G	T	CEL	c.2026G>T	NM_001807.6	NP_001798.3:p.(Ala676Ser)	NC_000009.11:g.135946915G>T	(Likely) benign	2 labs	e96f7c5adb
16:2133798 TSC2 G>A	16	2133798	2133798	G	A	TSC2	c.3986G>A	NM_000548.5	NP_000539.2:p.(Arg1329His)	NC_000016.9:g.2133798G>A	(Likely) benign	3 labs	e9a60b1f76
7:117251780 CFTR A>T	7	117251780	117251780	A	T	CFTR	c.3285A>T	NM_000492.4	NP_000483.3:p.(Thr1095=)	NC_000007.13:g.117251780A>T	(Likely) benign	3 labs	ea44e5385f
X:32503227 DMD G>C	X	32503227	32503227	G	C	DMD	c.2623-11C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32503227G>C	(Likely) benign	4 labs	ea881ef44a
20:57429696 GNAS C>G	20	57429696	57429696	C	G	GNAS	c.1189C>G	NM_001077490.1	NP_001070958.1:p.(Leu397Val)	NC_000020.10:g.57429696C>G	(Likely) benign	3 labs	eaf0a1f27c
11:47368997 MYBPC3 GA>G	11	47368997	47368999	GA	G	MYBPC3	c.884del	NM_000256.3	NP_000247.2:p.(Phe295SerfsTer5)	NC_000011.9:g.47368999del	(Likely) pathogenic	3 labs	eb289cbbdd
4:981743 IDUA C>T	4	981743	981743	C	T	IDUA	c.299+6C>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.981743C>T	(Likely) benign	5 labs	eb7dc089c4
2:179395554 TTN G>A	2	179395554	179395554	G	A	TTN	c.105788C>T	NM_001267550.2	NP_001254479.2:p.(Ala35263Val)	NC_000002.11:g.179395554G>A	(Likely) benign	5 labs	eb83b77e4c
12:66814487 GRIP1 C>A	12	66814487	66814487	C	A	GRIP1	c.1682+13G>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66814487C>A	(Likely) benign	2 labs	eba58941d6
2:166868775 SCN1A A>G	2	166868775	166868775	A	G	SCN1A	c.3723T>C	NM_001165963.4	NP_001159435.1:p.(Tyr1241=)	NC_000002.11:g.166868775A>G	(Likely) benign	3 labs	ebad0ed1d1
X:153008970 ABCD1 C>T	X	153008970	153008970	C	T	ABCD1	c.2019C>T	NM_000033.4	NP_000024.2:p.(Phe673=)	NC_000023.10:g.153008970C>T	(Likely) benign	3 labs	ebd113c0a4
17:59924572 BRIP1 G>A	17	59924572	59924572	G	A	BRIP1	c.517C>T	NM_032043.3	NP_114432.2:p.(Arg173Cys)	NC_000017.10:g.59924572G>A	(Likely) benign	7 labs	ec0623b928
3:178952020 PIK3CA C>T	3	178952020	178952020	C	T	PIK3CA	c.3075C>T	NM_006218.4	NP_006209.2:p.(Thr1025=)	NC_000003.11:g.178952020C>T	(Likely) benign	3 labs	ec1653eeb2
3:37058999 MLH1 C>T	3	37058999	37058999	C	T	MLH1	c.793C>T	NM_000249.4	NP_000240.1:p.(Arg265Cys)	NC_000003.11:g.37058999C>T	(Likely) pathogenic	4 labs	ec1fd9f21e
11:108127010 ATM C>T	11	108127010	108127010	C	T	ATM	c.2193C>T	NM_000051.4	NP_000042.3:p.(Tyr731=)	NC_000011.9:g.108127010C>T	(Likely) benign	5 labs	ec3f9224ff
10:73483859 CDH23 C>CA	10	73483859	73483860	C	CA	CDH23	c.3428dup	NM_022124.6	NP_071407.4:p.(His1143GlnfsTer3)	NC_000010.10:g.73483860dup	(Likely) pathogenic	2 labs	ec3ff5d400
10:112341673 SMC3 C>CTT	10	112341673	112341677	C	CTT	SMC3	c.548-5_548-4dup	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112341676_112341677dup	(Likely) benign	2 labs	ec58ccb4c4
16:2110795 TSC2 G>A	16	2110795	2110795	G	A	TSC2	c.1100G>A	NM_000548.5	NP_000539.2:p.(Arg367Gln)	NC_000016.9:g.2110795G>A	(Likely) benign	5 labs	ec8fb4a49f
2:179482533 TTN G>T	2	179482533	179482533	G	T	TTN	c.47545C>A	NM_001267550.2	NP_001254479.2:p.(Pro15849Thr)	NC_000002.11:g.179482533G>T	(Likely) benign	4 labs	ecab09b19e
5:112111309 APC T>A	5	112111309	112111309	T	A	APC	c.423-17T>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111309T>A	(Likely) benign	4 labs	ecf485eefc
20:61457552 COL9A3 G>T	20	61457552	61457552	G	T	COL9A3	c.685-4G>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61457552G>T	(Likely) benign	2 labs	ecf713f3f0
21:47423040 COL6A1 A>G	21	47423040	47423040	A	G	COL6A1	c.2441A>G	NM_001848.3	NP_001839.2:p.(Lys814Arg)	NC_000021.8:g.47423040A>G	(Likely) benign	4 labs	ed816c99cb
5:126145905 LMNB1 C>T	5	126145905	126145905	C	T	LMNB1	c.676C>T	NM_005573.4	NP_005564.1:p.(Arg226Cys)	NC_000005.9:g.126145905C>T	VUS	2 labs	edb906656e
20:61470065 COL9A3 G>A	20	61470065	61470065	G	A	COL9A3	c.1816G>A	NM_001853.4	NP_001844.3:p.(Ala606Thr)	NC_000020.10:g.61470065G>A	(Likely) benign	2 labs	edbee5eea8
11:108170506 ATM A>C	11	108170506	108170506	A	C	ATM	c.5071A>C	NM_000051.4	NP_000042.3:p.(Ser1691Arg)	NC_000011.9:g.108170506A>C	(Likely) benign	7 labs	ede65b4423
2:179517654 TTN T>C	2	179517654	179517654	T	C	TTN	c.38880A>G	NM_001267550.2	NP_001254479.2:p.(Pro12960=)	NC_000002.11:g.179517654T>C	(Likely) benign	2 labs	edf166532a
22:29085168 CHEK2 C>G	22	29085168	29085168	C	G	CHEK2	c.1497G>C	NM_007194.4	NP_009125.1:p.(Leu499=)	NC_000022.10:g.29085168C>G	(Likely) benign	4 labs	ee02258b39
7:5567677 ACTB C>T	7	5567677	5567677	C	T	ACTB	c.942G>A	NM_001101.5	NP_001092.1:p.(Gln314=)	NC_000007.13:g.5567677C>T	(Likely) benign	4 labs	ee18c99c5b
14:65543187 MAX G>A	14	65543187	65543187	G	A	MAX	c.*7C>T	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65543187G>A	(Likely) benign	2 labs	ee19a78686
3:78655944 ROBO1 T>G	3	78655944	78655944	T	G	ROBO1	c.4683A>C	NM_002941.4	NP_002932.1:p.(Lys1561Asn)	NC_000003.11:g.78655944T>G	VUS	3 labs	eeb7f5dbad
3:81720013 GBE1 G>A	3	81720013	81720013	G	A	GBE1	c.405C>T	NM_000158.4	NP_000149.4:p.(Leu135=)	NC_000003.11:g.81720013G>A	(Likely) benign	3 labs	eeee819bb8
5:228401 SDHA C>T	5	228401	228401	C	T	SDHA	c.723C>T	NM_004168.4	NP_004159.2:p.(Asp241=)	NC_000005.9:g.228401C>T	(Likely) benign	6 labs	eef269b4db
16:2147421 PKD1 C>T	16	2147421	2147421	C	T	PKD1	c.10304G>A	NM_001009944.3	NP_001009944.3:p.(Arg3435Gln)	NC_000016.9:g.2147421C>T	(Likely) benign	2 labs	ef13a0dda6
20:62326498 RTEL1 G>A	20	62326498	62326498	G	A	RTEL1	c.3423G>A	NM_001283009.2	NP_001269938.1:p.(Pro1141=)	NC_000020.10:g.62326498G>A	(Likely) benign	3 labs	ef1bbe7c87
2:179602935 TTN G>A	2	179602935	179602935	G	A	TTN	c.14245C>T	NM_001267550.2	NP_001254479.2:p.(Arg4749Ter)	NC_000002.11:g.179602935G>A	(Likely) pathogenic	2 labs	efa054c873
15:23891214 MAGEL2 G>A	15	23891214	23891214	G	A	MAGEL2	c.1676C>T	NM_019066.5	NP_061939.3:p.(Pro559Leu)	NC_000015.9:g.23891214G>A	VUS	2 labs	f0119b74de
6:41129105 TREM2 G>T	6	41129105	41129105	G	T	TREM2	c.287C>A	NM_018965.4	NP_061838.1:p.(Thr96Lys)	NC_000006.11:g.41129105G>T	(Likely) benign	2 labs	f0226d00fc
1:120548095 NOTCH2 C>A	1	120548095	120548095	C	A	NOTCH2	c.272G>T	NM_024408.4	NP_077719.2:p.(Arg91Leu)	NC_000001.10:g.120548095C>A	(Likely) benign	2 labs	f0331d0c29
1:241663902 FH TGA>T	1	241663902	241663940	TGA	T	FH	c.1237-14_1237-13del	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663939_241663940del	(Likely) benign	3 labs	f051eec373
X:153578133 FLNA C>A	X	153578133	153578133	C	A	FLNA	c.7436G>T	NM_001110556.2	NP_001104026.1:p.(Cys2479Phe)	NC_000023.10:g.153578133C>A	VUS	2 labs	f06824cb6f
1:22182115 HSPG2 G>A	1	22182115	22182115	G	A	HSPG2	c.5755C>T	NM_005529.7	NP_005520.4:p.(Arg1919Cys)	NC_000001.10:g.22182115G>A	(Likely) benign	2 labs	f069eba8dc
2:152473911 NEB C>G	2	152473911	152473911	C	G	NEB	c.11148G>C	NM_001164508.2	NP_001157980.2:p.(Met3716Ile)	NC_000002.11:g.152473911C>G	(Likely) benign	2 labs	f071d8d4b4
6:7575739 DSP C>T	6	7575739	7575739	C	T	DSP	c.2630+18C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575739C>T	(Likely) benign	3 labs	f074858b77
1:201029939 CACNA1S T>C	1	201029939	201029939	T	C	CACNA1S	c.3261A>G	NM_000069.3	NP_000060.2:p.(Gln1087=)	NC_000001.10:g.201029939T>C	(Likely) benign	2 labs	f0c3c42c9b
2:238289980 COL6A3 G>C	2	238289980	238289980	G	C	COL6A3	c.1475C>G	NM_004369.4	NP_004360.2:p.(Thr492Ser)	NC_000002.11:g.238289980G>C	(Likely) benign	3 labs	f0e4be9e2b
11:108218013 ATM C>T	11	108218013	108218013	C	T	ATM	c.8592C>T	NM_000051.4	NP_000042.3:p.(Tyr2864=)	NC_000011.9:g.108218013C>T	(Likely) benign	7 labs	f0ece1a23e
3:184070588 CLCN2 C>G	3	184070588	184070588	C	G	CLCN2	c.2154G>C	NM_004366.6	NP_004357.3:p.(Glu718Asp)	NC_000003.11:g.184070588C>G	(Likely) benign	3 labs	f0fa304bfc
11:72028249 CLPB G>A	11	72028249	72028249	G	A	CLPB	c.889C>T	NM_001258392.3	NP_001245321.1:p.(Arg297Trp)	NC_000011.9:g.72028249G>A	VUS	2 labs	f10ed8963d
16:68842480 CDH1 G>C	16	68842480	68842480	G	C	CDH1	c.531+10G>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842480G>C	(Likely) benign	3 labs	f1106a07aa
10:102749087 TWNK C>T	10	102749087	102749087	C	T	TWNK	c.1120C>T	NM_021830.5	NP_068602.2:p.(Arg374Trp)	NC_000010.10:g.102749087C>T	(Likely) pathogenic	2 labs	f12457505b
3:10089689 FANCD2 T>G	3	10089689	10089689	T	G	FANCD2	c.1367T>G	NM_001018115.3	NP_001018125.1:p.(Leu456Arg)	NC_000003.11:g.10089689T>G	(Likely) benign	3 labs	f13ef4154a
16:2152850 PKD1 A>G	16	2152850	2152850	A	G	PKD1	c.8913T>C	NM_001009944.3	NP_001009944.3:p.(Ala2971=)	NC_000016.9:g.2152850A>G	(Likely) benign	2 labs	f15deb7e27
11:108175463 ATM A>T	11	108175463	108175463	A	T	ATM	c.5558A>T	NM_000051.4	NP_000042.3:p.(Asp1853Val)	NC_000011.9:g.108175463A>T	(Likely) benign	6 labs	f183faa855
1:201079344 CACNA1S G>C	1	201079344	201079344	G	C	CACNA1S	c.206C>G	NM_000069.3	NP_000060.2:p.(Ala69Gly)	NC_000001.10:g.201079344G>C	(Likely) benign	2 labs	f1907487ed
2:179578108 TTN T>TACAAAACAAAACAAAACAAAACAAA	2	179578108	179578139	T	TACAAAACAAAACAAAACAAAACAAA	TTN	c.26762-34_26762-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578115_179578139dup	(Likely) benign	2 labs	f1a33a475a
2:238290159 COL6A3 T>C	2	238290159	238290159	T	C	COL6A3	c.1313-17A>G	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238290159T>C	(Likely) benign	3 labs	f1c811e59e
19:39026667 RYR1 G>A	19	39026667	39026667	G	A	RYR1	c.11547G>A	NM_000540.3	NP_000531.2:p.(Gln3849=)	NC_000019.9:g.39026667G>A	(Likely) benign	3 labs	f1ec4fa269
6:152734582 SYNE1 A>C	6	152734582	152734582	A	C	SYNE1	c.6135T>G	NM_182961.4	NP_892006.3:p.(Ile2045Met)	NC_000006.11:g.152734582A>C	(Likely) benign	4 labs	f24cd43df2
17:41245120 BRCA1 T>A	17	41245120	41245120	T	A	BRCA1	c.2428A>T	NM_007294.4	NP_009225.1:p.(Asn810Tyr)	NC_000017.10:g.41245120T>A	(Likely) benign	2 labs	f290927fce
3:128200072 GATA2 C>T	3	128200072	128200072	C	T	GATA2	c.1233G>A	NM_032638.5	NP_116027.2:p.(Ala411=)	NC_000003.11:g.128200072C>T	(Likely) benign	2 labs	f2d9dac33e
1:103496805 COL11A1 G>GA	1	103496805	103496818	G	GA	COL11A1	c.652-6dup	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103496818dup	(Likely) benign	4 labs	f2f955d748
2:179554339 TTN T>C	2	179554339	179554339	T	C	TTN	c.31847-17A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554339T>C	(Likely) benign	6 labs	f2fafdcf80
4:1801511 FGFR3 C>T	4	1801511	1801511	C	T	FGFR3	c.417C>T	NM_000142.5	NP_000133.1:p.(Asp139=)	NC_000004.11:g.1801511C>T	(Likely) benign	4 labs	f3309e8ce4
19:39018347 RYR1 G>C	19	39018347	39018347	G	C	RYR1	c.10747G>C	NM_000540.3	NP_000531.2:p.(Glu3583Gln)	NC_000019.9:g.39018347G>C	(Likely) benign	3 labs	f33eb01ebb
13:111145642 COL4A2 G>A	13	111145642	111145642	G	A	COL4A2	c.3634+13G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111145642G>A	(Likely) benign	2 labs	f382403f30
5:177419966 PROP1 G>A	5	177419966	177419966	G	A	PROP1	c.425C>T	NM_006261.5	NP_006252.4:p.(Ala142Val)	NC_000005.9:g.177419966G>A	(Likely) benign	3 labs	f39e0961d2
3:52439240 BAP1 T>C	3	52439240	52439240	T	C	BAP1	c.1002A>G	NM_004656.4	NP_004647.1:p.(Leu334=)	NC_000003.11:g.52439240T>C	(Likely) benign	4 labs	f3b3e98c83
17:59793404 BRIP1 G>C	17	59793404	59793404	G	C	BRIP1	c.2400C>G	NM_032043.3	NP_114432.2:p.(Tyr800Ter)	NC_000017.10:g.59793404G>C	(Likely) pathogenic	2 labs	f3db2a88a3
11:2549253 KCNQ1 G>A	11	2549253	2549253	G	A	KCNQ1	c.477+5G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2549253G>A	(Likely) pathogenic	2 labs	f3ec17e587
19:50905190 POLD1 C>T	19	50905190	50905190	C	T	POLD1	c.463+9C>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50905190C>T	(Likely) benign	2 labs	f412dad95a
16:2152798 PKD1 T>C	16	2152798	2152798	T	C	PKD1	c.8948+17A>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152798T>C	(Likely) benign	2 labs	f426c869a9
19:50905310 POLD1 G>A	19	50905310	50905310	G	A	POLD1	c.518G>A	NM_002691.4	NP_002682.2:p.(Ser173Asn)	NC_000019.9:g.50905310G>A	(Likely) benign	3 labs	f47a60d0a0
6:51920485 PKHD1 G>A	6	51920485	51920485	G	A	PKHD1	c.1736C>T	NM_138694.4	NP_619639.3:p.(Thr579Met)	NC_000006.11:g.51920485G>A	(Likely) benign	3 labs	f4897228a8
2:166913030 SCN1A C>G	2	166913030	166913030	C	G	SCN1A	c.384-20G>C	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166913030C>G	(Likely) benign	2 labs	f4965de8f9
5:112170870 APC T>C	5	112170870	112170870	T	C	APC	c.1958+8T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112170870T>C	(Likely) benign	3 labs	f4b7a947f4
12:49360147 WNT10B G>A	12	49360147	49360147	G	A	WNT10B	c.901C>T	NM_003394.4	NP_003385.2:p.(Pro301Ser)	NC_000012.11:g.49360147G>A	(Likely) benign	2 labs	f4f3b13fac
15:44890903 SPG11 T>C	15	44890903	44890903	T	C	SPG11	c.3818A>G	NM_025137.4	NP_079413.3:p.(Lys1273Arg)	NC_000015.9:g.44890903T>C	(Likely) benign	3 labs	f548038636
4:994465 IDUA G>A	4	994465	994465	G	A	IDUA	c.365G>A	NM_000203.5	NP_000194.2:p.(Arg122Lys)	NC_000004.11:g.994465G>A	(Likely) benign	2 labs	f54e8d09e6
16:2159405 PKD1 C>T	16	2159405	2159405	C	T	PKD1	c.5763G>A	NM_001009944.3	NP_001009944.3:p.(Leu1921=)	NC_000016.9:g.2159405C>T	(Likely) benign	2 labs	f54f98357b
20:31023821 ASXL1 G>T	20	31023821	31023821	G	T	ASXL1	c.3306G>T	NM_015338.6	NP_056153.2:p.(Glu1102Asp)	NC_000020.10:g.31023821G>T	(Likely) benign	3 labs	f555f1d001
8:11615928 GATA4 G>A	8	11615928	11615928	G	A	GATA4	c.1276G>A	NM_001308093.3	NP_001295022.1:p.(Asp426Asn)	NC_000008.10:g.11615928G>A	(Likely) benign	2 labs	f5a714e8e0
14:64688390 SYNE2 C>T	14	64688390	64688390	C	T	SYNE2	c.20158C>T	NM_182914.3	NP_878918.2:p.(Arg6720Trp)	NC_000014.8:g.64688390C>T	(Likely) benign	4 labs	f5af2849ab
2:219677122 CYP27A1 C>T	2	219677122	219677122	C	T	CYP27A1	c.624C>T	NM_000784.4	NP_000775.1:p.(Leu208=)	NC_000002.11:g.219677122C>T	(Likely) benign	3 labs	f5e759d878
13:111082318 COL4A2 G>C	13	111082318	111082318	G	C	COL4A2	c.549+15G>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111082318G>C	(Likely) benign	2 labs	f60ec53cf8
2:179659757 TTN T>C	2	179659757	179659757	T	C	TTN	c.1137A>G	NM_001267550.2	NP_001254479.2:p.(Arg379=)	NC_000002.11:g.179659757T>C	(Likely) benign	6 labs	f64dcb7a0e
X:74293709 ABCB7 C>T	X	74293709	74293709	C	T	ABCB7	c.938G>A	NM_001271696.3	NP_001258625.1:p.(Arg313Gln)	NC_000023.10:g.74293709C>T	(Likely) benign	2 labs	f6afad310e
2:179616210 TTN G>A	2	179616210	179616210	G	A	TTN	c.11311+1641C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616210G>A	(Likely) benign	6 labs	f6ddc43ff7
9:21971211 CDKN2A C>G	9	21971211	21971211	C	G	CDKN2A	c.151-4G>C	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21971211C>G	(Likely) benign	2 labs	f6e64cdbc1
9:98209458 PTCH1 G>A	9	98209458	98209458	G	A	PTCH1	c.4080C>T	NM_000264.5	NP_000255.2:p.(Ser1360=)	NC_000009.11:g.98209458G>A	(Likely) benign	2 labs	f6ed10193b
19:49902399 KASH5 G>A	19	49902399	49902399	G	A	KASH5	c.747G>A	NM_144688.5	NP_653289.3:p.(Ala249=)	NC_000019.9:g.49902399G>A	VUS	2 labs	f708cc7ed3
1:94484001 ABCA4 C>T	1	94484001	94484001	C	T	ABCA4	c.5196+1137G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94484001C>T	(Likely) pathogenic	2 labs	f73c6045da
19:1223125 STK11 C>G	19	1223125	1223125	C	G	STK11	c.1062C>G	NM_000455.5	NP_000446.1:p.(Phe354Leu)	NC_000019.9:g.1223125C>G	(Likely) benign	6 labs	f743203afb
13:32972884 BRCA2 A>G	13	32972884	32972884	A	G	BRCA2	c.10234A>G	NM_000059.4	NP_000050.3:p.(Ile3412Val)	NC_000013.10:g.32972884A>G	(Likely) benign	7 labs	f794e33b3a
10:73121779 SLC29A3 T>C	10	73121779	73121779	T	C	SLC29A3	c.842T>C	NM_018344.6	NP_060814.4:p.(Leu281Pro)	NC_000010.10:g.73121779T>C	(Likely) benign	2 labs	f7c58680c1
1:26135116 SELENON G>A	1	26135116	26135116	G	A	SELENON	c.481G>A	NM_206926.2	NP_996809.1:p.(Ala161Thr)	NC_000001.10:g.26135116G>A	(Likely) benign	2 labs	f7ccd761a7
20:62324290 RTEL1 G>A	20	62324290	62324290	G	A	RTEL1	c.2785G>A	NM_001283009.2	NP_001269938.1:p.(Ala929Thr)	NC_000020.10:g.62324290G>A	(Likely) benign	3 labs	f7e23ece0f
4:111539694 PITX2 C>T	4	111539694	111539694	C	T	PITX2	c.562G>A	NM_000325.6	NP_000316.2:p.(Ala188Thr)	NC_000004.11:g.111539694C>T	(Likely) benign	4 labs	f7f4004616
2:179516261 TTN G>T	2	179516261	179516261	G	T	TTN	c.39466C>A	NM_001267550.2	NP_001254479.2:p.(Pro13156Thr)	NC_000002.11:g.179516261G>T	(Likely) benign	4 labs	f80ef4d4d3
3:52437424 BAP1 A>G	3	52437424	52437424	A	G	BAP1	c.1729+8T>C	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52437424A>G	(Likely) benign	4 labs	f82659d635
21:47532500 COL6A2 C>T	21	47532500	47532500	C	T	COL6A2	c.714+9C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47532500C>T	(Likely) benign	3 labs	f8300f161d
5:138147943 CTNNA1 A>C	5	138147943	138147943	A	C	CTNNA1	c.540A>C	NM_001903.5	NP_001894.2:p.(Leu180=)	NC_000005.9:g.138147943A>C	(Likely) benign	4 labs	f85149718a
X:122551245 GRIA3 T>A	X	122551245	122551245	T	A	GRIA3	c.1501-8T>A	NM_007325.5	NP_015564.5:p.?	NC_000023.10:g.122551245T>A	(Likely) benign	2 labs	f8a2ca9c20
16:2164915 PKD1 G>A	16	2164915	2164915	G	A	PKD1	c.2109C>T	NM_001009944.3	NP_001009944.3:p.(His703=)	NC_000016.9:g.2164915G>A	(Likely) benign	2 labs	f8c0e1b6bb
2:179399936 TTN G>C	2	179399936	179399936	G	C	TTN	c.101406C>G	NM_001267550.2	NP_001254479.2:p.(Val33802=)	NC_000002.11:g.179399936G>C	(Likely) benign	5 labs	f8d1061d68
2:238269833 COL6A3 C>T	2	238269833	238269833	C	T	COL6A3	c.6157-16G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238269833C>T	(Likely) benign	2 labs	f8ee305e2e
6:152784621 SYNE1 T>C	6	152784621	152784621	T	C	SYNE1	c.1964A>G	NM_182961.4	NP_892006.3:p.(Gln655Arg)	NC_000006.11:g.152784621T>C	(Likely) benign	3 labs	f9025786ea
7:143043349 CLCN1 C>T	7	143043349	143043349	C	T	CLCN1	c.2284+5C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043349C>T	(Likely) benign	3 labs	f9201c64b6
2:152437986 NEB T>C	2	152437986	152437986	T	C	NEB	c.16284+11A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152437986T>C	(Likely) benign	2 labs	f92a7477fb
5:149456893 CSF1R C>T	5	149456893	149456893	C	T	CSF1R	c.835G>A	NM_001288705.3	NP_001275634.1:p.(Val279Met)	NC_000005.9:g.149456893C>T	(Likely) benign	3 labs	f958784a94
21:47856909 PCNT C>T	21	47856909	47856909	C	T	PCNT	c.9014C>T	NM_006031.6	NP_006022.3:p.(Thr3005Met)	NC_000021.8:g.47856909C>T	(Likely) benign	2 labs	f97ebca6f1
11:108213935 ATM A>T	11	108213935	108213935	A	T	ATM	c.8269-14A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108213935A>T	(Likely) benign	5 labs	f99496d1de
9:98268765 PTCH1 G>A	9	98268765	98268765	G	A	PTCH1	c.318C>T	NM_000264.5	NP_000255.2:p.(Leu106=)	NC_000009.11:g.98268765G>A	(Likely) benign	2 labs	f9cda8466e
3:122003411 CASR G>A	3	122003411	122003411	G	A	CASR	c.2610G>A	NM_000388.4	NP_000379.3:p.(Glu870=)	NC_000003.11:g.122003411G>A	(Likely) benign	2 labs	f9d26d316a
2:203420712 BMPR2 G>A	2	203420712	203420712	G	A	BMPR2	c.2324G>A	NM_001204.7	NP_001195.2:p.(Ser775Asn)	NC_000002.11:g.203420712G>A	(Likely) benign	2 labs	f9e1220357
2:179437034 TTN C>G	2	179437034	179437034	C	G	TTN	c.73825G>C	NM_001267550.2	NP_001254479.2:p.(Glu24609Gln)	NC_000002.11:g.179437034C>G	(Likely) benign	6 labs	f9e349b6aa
2:179423099 TTN A>G	2	179423099	179423099	A	G	TTN	c.87087T>C	NM_001267550.2	NP_001254479.2:p.(Leu29029=)	NC_000002.11:g.179423099A>G	(Likely) benign	3 labs	f9f52aa495
16:2152189 PKD1 G>A	16	2152189	2152189	G	A	PKD1	c.9270C>T	NM_001009944.3	NP_001009944.3:p.(Val3090=)	NC_000016.9:g.2152189G>A	(Likely) benign	2 labs	fa45ed9c56
4:55524252 KIT G>A	4	55524252	55524252	G	A	KIT	c.67+4G>A	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55524252G>A	(Likely) benign	2 labs	fa85273951
5:112175617 APC T>A	5	112175617	112175617	T	A	APC	c.4326T>A	NM_000038.6	NP_000029.2:p.(Pro1442=)	NC_000005.9:g.112175617T>A	(Likely) benign	4 labs	fab4c815f4
19:7141727 INSR G>A	19	7141727	7141727	G	A	INSR	c.2643C>T	NM_000208.4	NP_000199.2:p.(Ile881=)	NC_000019.9:g.7141727G>A	(Likely) benign	2 labs	fadfb895cf
21:47542052 COL6A2 C>T	21	47542052	47542052	C	T	COL6A2	c.1552C>T	NM_001849.4	NP_001840.3:p.(Pro518Ser)	NC_000021.8:g.47542052C>T	(Likely) benign	4 labs	fafa253d16
2:179582824 TTN C>T	2	179582824	179582824	C	T	TTN	c.24909G>A	NM_001267550.2	NP_001254479.2:p.(Lys8303=)	NC_000002.11:g.179582824C>T	(Likely) benign	4 labs	fafe9c5213
13:32945172 BRCA2 A>C	13	32945172	32945172	A	C	BRCA2	c.8567A>C	NM_000059.4	NP_000050.3:p.(Glu2856Ala)	NC_000013.10:g.32945172A>C	(Likely) benign	7 labs	fb39f8f347
15:99465361 IGF1R T>G	15	99465361	99465361	T	G	IGF1R	c.2202-16T>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99465361T>G	(Likely) benign	2 labs	fb3bbf3586
6:51890732 PKHD1 G>A	6	51890732	51890732	G	A	PKHD1	c.3876C>T	NM_138694.4	NP_619639.3:p.(Thr1292=)	NC_000006.11:g.51890732G>A	(Likely) benign	2 labs	fb44a99b0e
4:1807478 FGFR3 G>T	4	1807478	1807478	G	T	FGFR3	c.1647G>T	NM_000142.5	NP_000133.1:p.(Gly549=)	NC_000004.11:g.1807478G>T	(Likely) benign	4 labs	fb64efdba6
4:103553372 MANBA C>T	4	103553372	103553372	C	T	MANBA	c.2482G>A	NM_005908.4	NP_005899.3:p.(Val828Ile)	NC_000004.11:g.103553372C>T	(Likely) benign	2 labs	fb653b0f70
2:179597808 TTN G>A	2	179597808	179597808	G	A	TTN	c.16095C>T	NM_001267550.2	NP_001254479.2:p.(Asn5365=)	NC_000002.11:g.179597808G>A	(Likely) benign	6 labs	fb6b4a165e
11:68707125 IGHMBP2 CAG>C	11	68707125	68707129	CAG	C	IGHMBP2	c.2911_2912del	NM_002180.2	NP_002171.2:p.(Arg971GlufsTer4)	NC_000011.9:g.68707128_68707129del	(Likely) pathogenic	4 labs	fbba408521
21:27326977 APP A>G	21	27326977	27326977	A	G	APP	c.1614T>C	NM_000484.4	NP_000475.1:p.(Tyr538=)	NC_000021.8:g.27326977A>G	(Likely) benign	2 labs	fc0ccd1016
11:108139183 ATM A>G	11	108139183	108139183	A	G	ATM	c.2685A>G	NM_000051.4	NP_000042.3:p.(Leu895=)	NC_000011.9:g.108139183A>G	(Likely) benign	6 labs	fc2156606c
20:31368202 DNMT3B G>A	20	31368202	31368202	G	A	DNMT3B	c.73G>A	NM_006892.4	NP_008823.1:p.(Gly25Arg)	NC_000020.10:g.31368202G>A	VUS	4 labs	fc2be362f1
4:1806131 FGFR3 T>C	4	1806131	1806131	T	C	FGFR3	c.1150T>C	NM_000142.5	NP_000133.1:p.(Phe384Leu)	NC_000004.11:g.1806131T>C	(Likely) benign	3 labs	fc2ec0b560
22:29130652 CHEK2 G>A	22	29130652	29130652	G	A	CHEK2	c.58C>T	NM_007194.4	NP_009125.1:p.(Gln20Ter)	NC_000022.10:g.29130652G>A	(Likely) pathogenic	5 labs	fc580521bf
7:195594 FAM20C G>A	7	195594	195594	G	A	FAM20C	c.646G>A	NM_020223.4	NP_064608.2:p.(Gly216Arg)	NC_000007.13:g.195594G>A	(Likely) benign	2 labs	fcb8e6f6ed
11:2606506 KCNQ1 G>A	11	2606506	2606506	G	A	KCNQ1	c.1097G>A	NM_000218.3	NP_000209.2:p.(Arg366Gln)	NC_000011.9:g.2606506G>A	(Likely) pathogenic	2 labs	fce3ec2713
13:32914236 BRCA2 C>T	13	32914236	32914236	C	T	BRCA2	c.5744C>T	NM_000059.4	NP_000050.3:p.(Thr1915Met)	NC_000013.10:g.32914236C>T	(Likely) benign	7 labs	fd5684e9ca
2:179393859 TTN A>G	2	179393859	179393859	A	G	TTN	c.106619T>C	NM_001267550.2	NP_001254479.2:p.(Ile35540Thr)	NC_000002.11:g.179393859A>G	(Likely) benign	6 labs	fd6417cef4
2:179582853 TTN T>C	2	179582853	179582853	T	C	TTN	c.24880A>G	NM_001267550.2	NP_001254479.2:p.(Arg8294Gly)	NC_000002.11:g.179582853T>C	(Likely) benign	5 labs	fd8bd8478e
X:32383146 DMD A>T	X	32383146	32383146	A	T	DMD	c.5016T>A	NM_004006.3	NP_003997.2:p.(Asn1672Lys)	NC_000023.10:g.32383146A>T	(Likely) benign	3 labs	fd933f4d8d
3:184039666 EIF4G1 A>G	3	184039666	184039666	A	G	EIF4G1	c.1294A>G	NM_182917.4	NP_886553.3:p.(Met432Val)	NC_000003.11:g.184039666A>G	(Likely) benign	3 labs	fd9af800c7
14:23897077 MYH7 T>C	14	23897077	23897077	T	C	MYH7	c.1605A>G	NM_000257.4	NP_000248.2:p.(Glu535=)	NC_000014.8:g.23897077T>C	(Likely) benign	5 labs	fda8bce8f9
19:7267390 INSR G>A	19	7267390	7267390	G	A	INSR	c.618C>T	NM_000208.4	NP_000199.2:p.(Val206=)	NC_000019.9:g.7267390G>A	(Likely) benign	3 labs	fdbf418874
1:216064540 USH2A T>C	1	216064540	216064540	T	C	USH2A	c.7595-2144A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216064540T>C	(Likely) pathogenic	3 labs	fdd6ae4d2a
16:89986117 MC1R C>T	16	89986117	89986117	C	T	MC1R	c.451C>T	NM_002386.4	NP_002377.4:p.(Arg151Cys)	NC_000016.9:g.89986117C>T	(Likely) benign	2 labs	fe0ee28415
1:241663902 FH T>TGAGAGAGAGAGAGA	1	241663902	241663940	T	TGAGAGAGAGAGAGA	FH	c.1237-26_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663927_241663940dup	(Likely) benign	2 labs	fe16cad15b
X:32408257 DMD T>C	X	32408257	32408257	T	C	DMD	c.4275A>G	NM_004006.3	NP_003997.2:p.(Glu1425=)	NC_000023.10:g.32408257T>C	(Likely) benign	4 labs	fe48e34228
9:113562649 MUSK A>G	9	113562649	113562649	A	G	MUSK	c.1991A>G	NM_005592.4	NP_005583.1:p.(Asn664Ser)	NC_000009.11:g.113562649A>G	(Likely) benign	2 labs	fe80e66f7a
2:166781158 TTC21B G>A	2	166781158	166781158	G	A	TTC21B	c.1417C>T	NM_024753.5	NP_079029.3:p.(Leu473Phe)	NC_000002.11:g.166781158G>A	(Likely) benign	2 labs	feeb93ccfa
13:23898489 SGCG T>C	13	23898489	23898489	T	C	SGCG	c.703-18T>C	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23898489T>C	(Likely) benign	2 labs	fef495e4cc
2:179550069 TTN T>C	2	179550069	179550069	T	C	TTN	c.32393-12A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179550069T>C	(Likely) benign	4 labs	ff0a6c4c54
1:235973544 LYST A>C	1	235973544	235973544	A	C	LYST	c.574T>G	NM_000081.4	NP_000072.2:p.(Leu192Val)	NC_000001.10:g.235973544A>C	(Likely) benign	2 labs	ff1cc99a62
5:112174677 APC T>C	5	112174677	112174677	T	C	APC	c.3386T>C	NM_000038.6	NP_000029.2:p.(Leu1129Ser)	NC_000005.9:g.112174677T>C	(Likely) benign	5 labs	ff3f61540c
17:29496957 NF1 T>A	17	29496957	29496957	T	A	NF1	c.528T>A	NM_001042492.3	NP_001035957.1:p.(Asp176Glu)	NC_000017.10:g.29496957T>A	(Likely) benign	5 labs	ff4e15810d
2:179594059 TTN T>C	2	179594059	179594059	T	C	TTN	c.18824A>G	NM_001267550.2	NP_001254479.2:p.(Asn6275Ser)	NC_000002.11:g.179594059T>C	(Likely) benign	5 labs	ff95437e49
11:17450177 ABCC8 G>A	11	17450177	17450177	G	A	ABCC8	c.1858C>T	NM_000352.6	NP_000343.2:p.(Arg620Cys)	NC_000011.9:g.17450177G>A	(Likely) benign	2 labs	ff9e6959c7
3:197410187 RUBCN G>A	3	197410187	197410187	G	A	RUBCN	c.1836C>T	NM_001145642.4	NP_001139114.1:p.(Ala612=)	NC_000003.11:g.197410187G>A	(Likely) benign	3 labs	ffc52c8d41
8:144994028 PLEC C>T	8	144994028	144994028	C	T	PLEC	c.9961G>A	NM_201384.3	NP_958786.1:p.(Gly3321Arg)	NC_000008.10:g.144994028C>T	(Likely) benign	2 labs	ffee59a1d3
2:27682262 IFT172 A>C	2	27682262	27682262	A	C	IFT172	c.2770T>G	NM_015662.2	NP_056477.1:p.(Ser924Ala)	NC_000002.11:g.27682262A>C	(Likely) benign	2 labs	133e862ada
7:47968953 PKD1L1 C>T	7	47968953	47968953	C	T	PKD1L1	c.908G>A	NM_138295.4	NP_612152.1:p.(Arg303Gln)	NC_000007.13:g.47968953C>T	(Likely) benign	3 labs	133fb3e13c
9:5069153 JAK2 T>G	9	5069153	5069153	T	G	JAK2	c.1458T>G	NM_001322194.1	NP_001309123.1:p.(Val486=)	NC_000009.11:g.5069153T>G	(Likely) benign	2 labs	1345584bf6
2:179552829 TTN A>G	2	179552829	179552829	A	G	TTN	c.32311+9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179552829A>G	(Likely) benign	2 labs	1341342740
9:141014681 CACNA1B C>G	9	141014681	141014681	C	G	CACNA1B	c.6095C>G	NM_000718.3	NP_000709.1:p.(Thr2032Ser)	NC_000009.11:g.141014681C>G	(Likely) benign	2 labs	13501b3155
5:127873044 FBN2 C>G	5	127873044	127873044	C	G	FBN2	c.253G>C	NM_001999.3	NP_001990.2:p.(Gly85Arg)	NC_000005.9:g.127873044C>G	VUS	2 labs	13523f1815
17:29509612 NF1 CT>C	17	29509612	29509613	CT	C	NF1	c.818del	NM_001042492.3	NP_001035957.1:p.(Leu273ProfsTer8)	NC_000017.10:g.29509613del	(Likely) pathogenic	2 labs	1355298c38
1:94490534 ABCA4 G>A	1	94490534	94490534	G	A	ABCA4	c.4610C>T	NM_000350.2	NP_000341.2:p.(Thr1537Met)	NC_000001.10:g.94490534G>A	VUS	2 labs	1358ea34ba
1:237054504 MTR C>T	1	237054504	237054504	C	T	MTR	c.3079C>T	NM_000254.2	NP_000245.2:p.(Arg1027Trp)	NC_000001.10:g.237054504C>T	(Likely) benign	2 labs	1363e99cb5
19:36594853 WDR62 G>A	19	36594853	36594853	G	A	WDR62	c.4123G>A	NM_001083961.1	NP_001077430.1:p.(Gly1375Ser)	NC_000019.9:g.36594853G>A	(Likely) benign	2 labs	13640436ed
2:228124570 COL4A3 C>T	2	228124570	228124570	C	T	COL4A3	c.1091C>T	NM_000091.4	NP_000082.2:p.(Pro364Leu)	NC_000002.11:g.228124570C>T	VUS	2 labs	1365f1e9f3
4:17503355 QDPR C>T	4	17503355	17503355	C	T	QDPR	c.423G>A	NM_000320.3	NP_000311.2:p.(Leu141=)	NC_000004.11:g.17503355C>T	(Likely) benign	2 labs	e2fc04ac52
6:157100008 ARID1B A>C	6	157100008	157100008	A	C	ARID1B	c.945A>C	NM_020732.3	NP_065783.3:p.(Gly315=)	NC_000006.11:g.157100008A>C	(Likely) benign	2 labs	1372b175a0
5:82832821 VCAN T>C	5	82832821	82832821	T	C	VCAN	c.4004-5T>C	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82832821T>C	(Likely) pathogenic	3 labs	1376864b30
X:99662842 PCDH19 G>A	X	99662842	99662842	G	A	PCDH19	c.754C>T	NM_001184880.2	NP_001171809.1:p.(Pro252Ser)	NC_000023.10:g.99662842G>A	VUS	2 labs	1386807452
10:123276898 FGFR2 T>C	10	123276898	123276898	T	C	FGFR2	c.1019A>G	NM_000141.4	NP_000132.3:p.(Tyr340Cys)	NC_000010.10:g.123276898T>C	(Likely) pathogenic	2 labs	1386a3fd64
2:29296725 PCARE C>T	2	29296725	29296725	C	T	PCARE	c.403G>A	NM_001029883.3	NP_001025054.1:p.(Glu135Lys)	NC_000002.11:g.29296725C>T	VUS	2 labs	138affb092
6:12163802 HIVEP1 G>A	6	12163802	12163802	G	A	HIVEP1	c.7265G>A	NM_002114.4	NP_002105.3:p.(Gly2422Glu)	NC_000006.11:g.12163802G>A	VUS	2 labs	138ad2d276
X:31140000 DMD CTCTGCCCAAATCA>C	X	31140000	31140019	CTCTGCCCAAATCA	C	DMD	c.*23_*35del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31140007_31140019del	(Likely) benign	3 labs	1393481bc6
10:112541568 RBM20 G>A	10	112541568	112541568	G	A	RBM20	c.1201G>A	NM_001134363.3	NP_001127835.2:p.(Asp401Asn)	NC_000010.10:g.112541568G>A	VUS	2 labs	13a4fcc1d1
2:179452515 TTN A>G	2	179452515	179452515	A	G	TTN	c.63521T>C	NM_001267550.2	NP_001254479.2:p.(Ile21174Thr)	NC_000002.11:g.179452515A>G	VUS	2 labs	e2fe8d25ab
14:77491933 IRF2BPL T>A	14	77491933	77491933	T	A	IRF2BPL	c.2203A>T	NM_024496.4	NP_078772.1:p.(Ser735Cys)	NC_000014.8:g.77491933T>A	(Likely) benign	2 labs	13aa0d2f97
13:23909888 SACS T>G	13	23909888	23909888	T	G	SACS	c.8127A>C	NM_014363.5	NP_055178.3:p.(Lys2709Asn)	NC_000013.10:g.23909888T>G	(Likely) benign	3 labs	13ae6e7f10
16:2153811 PKD1 C>T	16	2153811	2153811	C	T	PKD1	c.8247G>A	NM_001009944.2	NP_001009944.2:p.(Ala2749=)	NC_000016.9:g.2153811C>T	(Likely) benign	2 labs	13af361f13
X:70356511 MED12 C>T	X	70356511	70356511	C	T	MED12	c.5400+6C>T	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70356511C>T	(Likely) benign	3 labs	13b04ef6ec
15:23892210 MAGEL2 G>A	15	23892210	23892210	G	A	MAGEL2	c.680C>T	NM_019066.4	NP_061939.3:p.(Thr227Ile)	NC_000015.9:g.23892210G>A	VUS	2 labs	13b28f5578
1:45974886 MMACHC G>C	1	45974886	45974886	G	C	MMACHC	c.677G>C	NM_001330540.1	NP_001317469.1:p.(Ter226SerextTer14)	NC_000001.10:g.45974886G>C	VUS	2 labs	13b54526de
2:84834133 DNAH6 A>G	2	84834133	84834133	A	G	DNAH6	c.3208A>G	NM_001370.2	NP_001361.1:p.(Thr1070Ala)	NC_000002.11:g.84834133A>G	VUS	2 labs	13c088ebfc
X:63411371 AMER1 T>C	X	63411371	63411371	T	C	AMER1	c.1796A>G	NM_152424.4	NP_689637.3:p.(Tyr599Cys)	NC_000023.10:g.63411371T>C	(Likely) benign	3 labs	13c2d2c383
13:110843985 COL4A1 T>C	13	110843985	110843985	T	C	COL4A1	c.1536+576A>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110843985T>C	(Likely) benign	2 labs	e300bab814
17:73839366 UNC13D C>T	17	73839366	73839366	C	T	UNC13D	c.154-19G>A	NM_199242.3	NP_954712.1:p.?	NC_000017.10:g.73839366C>T	(Likely) benign	3 labs	13cbd14e7b
19:6693437 C3 C>A	19	6693437	6693437	C	A	C3	c.3216G>T	NM_000064.2	NP_000055.2:p.(Arg1072=)	NC_000019.9:g.6693437C>A	(Likely) benign	3 labs	13cb07fff2
6:56484984 DST T>C	6	56484984	56484984	T	C	DST	c.3848A>G	NM_001723.5	NP_001714.1:p.(Asn1283Ser)	NC_000006.11:g.56484984T>C	(Likely) benign	2 labs	13cb0e3041
16:2103389 TSC2 C>T	16	2103389	2103389	C	T	TSC2	c.272C>T	NM_000548.5	NP_000539.2:p.(Pro91Leu)	NC_000016.9:g.2103389C>T	(Likely) benign	3 labs	13cc6b04d3
7:42079797 GLI3 G>A	7	42079797	42079797	G	A	GLI3	c.868C>T	NM_000168.6	NP_000159.3:p.(Arg290Ter)	NC_000007.13:g.42079797G>A	(Likely) pathogenic	2 labs	13d68f85ea
1:235969406 LYST T>C	1	235969406	235969406	T	C	LYST	c.3030A>G	NM_001301365.1	NP_001288294.1:p.(Gly1010=)	NC_000001.10:g.235969406T>C	(Likely) benign	2 labs	13d7e2100d
10:123353231 FGFR2 T>A	10	123353231	123353231	T	A	FGFR2	c.101A>T	NM_022970.3	NP_075259.4:p.(Glu34Val)	NC_000010.10:g.123353231T>A	VUS	2 labs	13e19b240d
1:145534207 ITGA10 C>T	1	145534207	145534207	C	T	ITGA10	c.1712C>T	NM_003637.5	NP_003628.2:p.(Ala571Val)	NC_000001.10:g.145534207C>T	VUS	2 labs	13e301eb68
4:79462110 FRAS1 G>A	4	79462110	79462110	G	A	FRAS1	c.11871G>A	NM_025074.7	NP_079350.5:p.(Arg3957=)	NC_000004.11:g.79462110G>A	(Likely) benign	2 labs	13e8bf4a2a
7:92763589 SAMD9L C>T	7	92763589	92763589	C	T	SAMD9L	c.1696G>A	NM_152703.4	NP_689916.2:p.(Ala566Thr)	NC_000007.13:g.92763589C>T	(Likely) benign	2 labs	13ed2c6e36
1:216219858 USH2A C>A	1	216219858	216219858	C	A	USH2A	c.6240G>T	NM_206933.4	NP_996816.3:p.(Lys2080Asn)	NC_000001.10:g.216219858C>A	(Likely) benign	3 labs	13e9d731b9
2:179554626 TTN T>TA	2	179554626	179554629	T	TA	TTN	c.31763-4dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554629dup	(Likely) benign	4 labs	13f3d7c64e
16:1034730 SOX8 A>C	16	1034730	1034730	A	C	SOX8	c.685A>C	NM_014587.4	NP_055402.2:p.(Thr229Pro)	NC_000016.9:g.1034730A>C	VUS	2 labs	2aa3d1ca99
8:28574446 EXTL3 C>T	8	28574446	28574446	C	T	EXTL3	c.870C>T	NM_001440.3	NP_001431.1:p.(Asn290=)	NC_000008.10:g.28574446C>T	(Likely) benign	2 labs	141dd50cf7
15:91306246 BLM C>T	15	91306246	91306246	C	T	BLM	c.808C>T	NM_001287248.1	NP_001274177.1:p.(Gln270Ter)	NC_000015.9:g.91306246C>T	(Likely) pathogenic	3 labs	1426127a61
2:73680508 ALMS1 G>C	2	73680508	73680508	G	C	ALMS1	c.6857G>C	NM_015120.4	NP_055935.4:p.(Arg2286Pro)	NC_000002.11:g.73680508G>C	(Likely) benign	2 labs	e316ec9749
1:45797505 MUTYH C>G	1	45797505	45797505	C	G	MUTYH	c.1014G>C	NM_001128425.2	NP_001121897.1:p.(Gln338His)	NC_000001.10:g.45797505C>G	(Likely) benign	3 labs	e31794c870
14:23855578 MYH6 G>A	14	23855578	23855578	G	A	MYH6	c.4905C>T	NM_002471.4	NP_002462.2:p.(Asn1635=)	NC_000014.8:g.23855578G>A	(Likely) benign	5 labs	1433c398b3
9:5126343 JAK2 G>A	9	5126343	5126343	G	A	JAK2	c.3188G>A	NM_001322194.2	NP_001309123.1:p.(Arg1063His)	NC_000009.11:g.5126343G>A	(Likely) benign	3 labs	e32683c61e
X:152969508 BCAP31 G>A	X	152969508	152969508	G	A	BCAP31	c.584C>T	NM_001139457.2	NP_001132929.1:p.(Thr195Met)	NC_000023.10:g.152969508G>A	(Likely) benign	2 labs	1438acdd9c
20:43264859 ADA T>C	20	43264859	43264859	T	C	ADA	c.95+9A>G	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43264859T>C	(Likely) benign	2 labs	143be5ed24
1:103544218 COL11A1 C>T	1	103544218	103544218	C	T	COL11A1	c.484G>A	NM_080629.2	NP_542196.2:p.(Gly162Arg)	NC_000001.10:g.103544218C>T	(Likely) pathogenic	2 labs	143dac2945
15:43910286 STRC C>A	15	43910286	43910286	C	A	STRC	c.333G>T	NM_153700.2	NP_714544.1:p.(Gly111=)	NC_000015.9:g.43910286C>A	(Likely) benign	2 labs	143e950df1
11:93529655 MED17 G>A	11	93529655	93529655	G	A	MED17	c.1092G>A	NM_004268.5	NP_004259.3:p.(Pro364=)	NC_000011.9:g.93529655G>A	(Likely) benign	2 labs	14472eaa91
1:225605780 LBR G>A	1	225605780	225605780	G	A	LBR	c.743C>T	NM_194442.2	NP_919424.1:p.(Pro248Leu)	NC_000001.10:g.225605780G>A	VUS	2 labs	1449f16ca0
13:23915239 SACS T>C	13	23915239	23915239	T	C	SACS	c.2776A>G	NM_014363.5	NP_055178.3:p.(Ile926Val)	NC_000013.10:g.23915239T>C	(Likely) benign	2 labs	144f97150a
14:20943408 PNP G>A	14	20943408	20943408	G	A	PNP	c.649G>A	NM_000270.4	NP_000261.2:p.(Val217Ile)	NC_000014.8:g.20943408G>A	(Likely) benign	2 labs	14475f2095
X:19554576 SH3KBP1 T>C	X	19554576	19554576	T	C	SH3KBP1	c.1957A>G	NM_031892.3	NP_114098.1:p.(Met653Val)	NC_000023.10:g.19554576T>C	(Likely) benign	2 labs	14588e5bda
X:601574 SHOX A>T	X	601574	601574	A	T	SHOX	c.505A>T	NM_000451.3	NP_000442.1:p.(Arg169Ter)	NC_000023.10:g.601574A>T	(Likely) pathogenic	2 labs	1459f75ebe
11:66297363 BBS1 C>T	11	66297363	66297363	C	T	BBS1	c.1413C>T	NM_024649.4	NP_078925.3:p.(Leu471=)	NC_000011.9:g.66297363C>T	(Likely) benign	2 labs	145ac287ad
17:79479166 ACTG1 G>A	17	79479166	79479166	G	A	ACTG1	c.126C>T	NM_001199954.2	NP_001186883.1:p.(Gly42=)	NC_000017.10:g.79479166G>A	(Likely) benign	2 labs	1461b700e9
2:73651654 ALMS1 C>T	2	73651654	73651654	C	T	ALMS1	c.864C>T	NM_015120.4	NP_055935.4:p.(Asp288=)	NC_000002.11:g.73651654C>T	(Likely) benign	3 labs	145c82b3ba
10:103825629 HPS6 C>T	10	103825629	103825629	C	T	HPS6	c.398C>T	NM_024747.6	NP_079023.2:p.(Ala133Val)	NC_000010.10:g.103825629C>T	(Likely) benign	2 labs	146f8d97f4
5:37122533 CPLANE1 T>C	5	37122533	37122533	T	C	CPLANE1	c.8854A>G	NM_023073.3	NP_075561.3:p.(Arg2952Gly)	NC_000005.9:g.37122533T>C	VUS	2 labs	14713ede7a
2:242695399 D2HGDH G>A	2	242695399	242695399	G	A	D2HGDH	c.1276G>A	NM_152783.4	NP_689996.4:p.(Ala426Thr)	NC_000002.11:g.242695399G>A	(Likely) benign	2 labs	147594945a
1:197062222 ASPM A>G	1	197062222	197062222	A	G	ASPM	c.9254T>C	NM_018136.4	NP_060606.3:p.(Ile3085Thr)	NC_000001.10:g.197062222A>G	(Likely) benign	2 labs	1476ead7d4
8:42183529 IKBKB G>A	8	42183529	42183529	G	A	IKBKB	c.2028G>A	NM_001556.3	NP_001547.1:p.(Met676Ile)	NC_000008.10:g.42183529G>A	(Likely) benign	2 labs	147b651c51
2:239233988 TRAF3IP1 C>T	2	239233988	239233988	C	T	TRAF3IP1	c.165C>T	NM_015650.3	NP_056465.2:p.(Asp55=)	NC_000002.11:g.239233988C>T	(Likely) benign	2 labs	147d914254
4:126240424 FAT4 G>T	4	126240424	126240424	G	T	FAT4	c.2858G>T	NM_024582.6	NP_078858.4:p.(Gly953Val)	NC_000004.11:g.126240424G>T	VUS	2 labs	e3328feabd
20:10621922 JAG1 T>C	20	10621922	10621922	T	C	JAG1	c.2917-30A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621922T>C	(Likely) benign	2 labs	1488ba0a4d
X:47486217 CFP C>T	X	47486217	47486217	C	T	CFP	c.895G>A	NM_002621.2	NP_002612.1:p.(Asp299Asn)	NC_000023.10:g.47486217C>T	(Likely) benign	3 labs	148a7342a9
7:87053206 ABCB4 G>A	7	87053206	87053206	G	A	ABCB4	c.2211+16C>T	NM_018849.3	NP_061337.1:p.?	NC_000007.13:g.87053206G>A	(Likely) benign	2 labs	e3366c554d
16:1251963 CACNA1H C>T	16	1251963	1251963	C	T	CACNA1H	c.1513C>T	NM_021098.2	NP_066921.2:p.(Arg505Cys)	NC_000016.9:g.1251963C>T	(Likely) benign	3 labs	148df13dbd
13:32954009 BRCA2 C>T	13	32954009	32954009	C	T	BRCA2	c.9076C>T	NM_000059.4	NP_000050.3:p.(Gln3026Ter)	NC_000013.10:g.32954009C>T	(Likely) pathogenic	2 labs	e3387bf568
9:136220769 SURF1 T>G	9	136220769	136220769	T	G	SURF1	c.350A>C	NM_003172.4	NP_003163.1:p.(Tyr117Ser)	NC_000009.11:g.136220769T>G	VUS	2 labs	e339e68472
X:49114893 FOXP3 G>A	X	49114893	49114893	G	A	FOXP3	c.70C>T	NM_014009.3	NP_054728.2:p.(Pro24Ser)	NC_000023.10:g.49114893G>A	(Likely) benign	3 labs	1493314a07
3:43618558 ANO10 C>T	3	43618558	43618558	C	T	ANO10	c.788G>A	NM_018075.4	NP_060545.3:p.(Arg263His)	NC_000003.11:g.43618558C>T	(Likely) benign	2 labs	1494c21c1c
8:38095662 DDHD2 C>T	8	38095662	38095662	C	T	DDHD2	c.557C>T	NM_015214.2	NP_056029.2:p.(Thr186Met)	NC_000008.10:g.38095662C>T	(Likely) benign	2 labs	1496020198
19:13409390 CACNA1A C>T	19	13409390	13409390	C	T	CACNA1A	c.3069G>A	NM_023035.3	NP_075461.2:p.(Arg1023=)	NC_000019.9:g.13409390C>T	(Likely) benign	4 labs	14b8e60f62
5:78181423 ARSB C>T	5	78181423	78181423	C	T	ARSB	c.1126G>A	NM_000046.5	NP_000037.2:p.(Val376Met)	NC_000005.9:g.78181423C>T	(Likely) benign	2 labs	14c08392c4
9:108337335 FKTN G>T	9	108337335	108337335	G	T	FKTN	c.22G>T	NM_006731.2	NP_006722.2:p.(Val8Leu)	NC_000009.11:g.108337335G>T	VUS	2 labs	14c2b0322e
5:1212453 SLC6A19 G>A	5	1212453	1212453	G	A	SLC6A19	c.517G>A	NM_001003841.3	NP_001003841.1:p.(Asp173Asn)	NC_000005.9:g.1212453G>A	(Likely) pathogenic	4 labs	14d557e4b0
19:54407979 PRKCG G>A	19	54407979	54407979	G	A	PRKCG	c.1747G>A	NM_002739.5	NP_002730.1:p.(Val583Met)	NC_000019.9:g.54407979G>A	VUS	2 labs	14d71f18d5
2:238258801 COL6A3 G>A	2	238258801	238258801	G	A	COL6A3	c.6868C>T	NM_004369.3	NP_004360.2:p.(Arg2290Cys)	NC_000002.11:g.238258801G>A	VUS	3 labs	14d5c2e5b2
1:235963612 LYST C>T	1	235963612	235963612	C	T	LYST	c.4006+8G>A	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235963612C>T	(Likely) benign	2 labs	14e330f475
16:2159591 PKD1 A>G	16	2159591	2159591	A	G	PKD1	c.5577T>C	NM_001009944.2	NP_001009944.2:p.(Ala1859=)	NC_000016.9:g.2159591A>G	(Likely) benign	3 labs	14e403994b
1:197061086 ASPM A>G	1	197061086	197061086	A	G	ASPM	c.9395T>C	NM_018136.4	NP_060606.3:p.(Leu3132Pro)	NC_000001.10:g.197061086A>G	VUS	2 labs	14e60986be
16:2127595 TSC2 A>G	16	2127595	2127595	A	G	TSC2	c.2838-4A>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2127595A>G	(Likely) benign	3 labs	14f1f87da1
11:17656686 OTOG C>T	11	17656686	17656686	C	T	OTOG	c.7681C>T	NM_001277269.2	NP_001264198.1:p.(Leu2561=)	NC_000011.9:g.17656686C>T	(Likely) benign	2 labs	e34483e57e
8:11614559 GATA4 A>G	8	11614559	11614559	A	G	GATA4	c.1113A>G	NM_002052.4	NP_002043.2:p.(Ser371=)	NC_000008.10:g.11614559A>G	(Likely) benign	3 labs	14f7567f45
14:88452844 GALC AT>A	14	88452844	88452845	AT	A	GALC	c.430del	NM_000153.4	NP_000144.2:p.(Ile144LeufsTer27)	NC_000014.8:g.88452845del	(Likely) pathogenic	2 labs	14fb23b8f2
4:996063 IDUA G>C	4	996063	996063	G	C	IDUA	c.979G>C	NM_000203.5	NP_000194.2:p.(Ala327Pro)	NC_000004.11:g.996063G>C	(Likely) pathogenic	3 labs	150a6a6233
4:15482322 CC2D2A C>T	4	15482322	15482322	C	T	CC2D2A	c.124-6C>T	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15482322C>T	(Likely) benign	2 labs	150e03db49
17:29486027 NF1 G>C	17	29486027	29486027	G	C	NF1	c.205-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486027G>C	(Likely) pathogenic	3 labs	1517c47e7c
12:50500141 GPD1 T>C	12	50500141	50500141	T	C	GPD1	c.431T>C	NM_005276.4	NP_005267.2:p.(Met144Thr)	NC_000012.11:g.50500141T>C	VUS	2 labs	e34d0243ef
8:10469813 RP1L1 C>T	8	10469813	10469813	C	T	RP1L1	c.1795G>A	NM_178857.6	NP_849188.4:p.(Glu599Lys)	NC_000008.10:g.10469813C>T	(Likely) benign	2 labs	151fc0b532
19:49468598 FTL C>T	19	49468598	49468598	C	T	FTL	c.-167C>T	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468598C>T	(Likely) pathogenic	2 labs	152384013e
16:7759112 RBFOX1 C>A	16	7759112	7759112	C	A	RBFOX1	c.1103C>A	NM_001364800.1	NP_001351729.1:p.(Pro368Gln)	NC_000016.9:g.7759112C>A	(Likely) benign	2 labs	152c41746d
22:37261121 NCF4 G>A	22	37261121	37261121	G	A	NCF4	c.271+7G>A	NM_013416.3	NP_038202.2:p.?	NC_000022.10:g.37261121G>A	(Likely) benign	2 labs	152ee82306
16:23649233 PALB2 T>G	16	23649233	23649233	T	G	PALB2	c.149A>C	NM_024675.3	NP_078951.2:p.(Lys50Thr)	NC_000016.9:g.23649233T>G	VUS	2 labs	1533d2418f
16:3799632 CREBBP C>T	16	3799632	3799632	C	T	CREBBP	c.3832G>A	NM_004380.2	NP_004371.2:p.(Glu1278Lys)	NC_000016.9:g.3799632C>T	(Likely) pathogenic	2 labs	1537b86b0a
16:2156173 PKD1 G>A	16	2156173	2156173	G	A	PKD1	c.7622C>T	NM_001009944.2	NP_001009944.2:p.(Pro2541Leu)	NC_000016.9:g.2156173G>A	VUS	2 labs	1539fefab2
12:32955491 PKP2 C>G	12	32955491	32955491	C	G	PKP2	c.2146-1G>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955491C>G	(Likely) pathogenic	5 labs	e3558b5d35
13:35517239 NBEA G>A	13	35517239	35517239	G	A	NBEA	c.282G>A	NM_015678.5	NP_056493.3:p.(Thr94=)	NC_000013.10:g.35517239G>A	(Likely) benign	3 labs	e3569a2e1b
15:85400400 ALPK3 G>A	15	85400400	85400400	G	A	ALPK3	c.2431G>A	NM_020778.5	NP_065829.4:p.(Glu811Lys)	NC_000015.9:g.85400400G>A	(Likely) benign	3 labs	153c21fd93
4:187530466 FAT1 G>A	4	187530466	187530466	G	A	FAT1	c.10077C>T	NM_005245.3	NP_005236.2:p.(Ala3359=)	NC_000004.11:g.187530466G>A	(Likely) benign	2 labs	15570aecb7
3:183854503 EIF2B5 C>T	3	183854503	183854503	C	T	EIF2B5	c.299C>T	NM_003907.3	NP_003898.2:p.(Ala100Val)	NC_000003.11:g.183854503C>T	(Likely) benign	2 labs	1559a48710
16:88788618 PIEZO1 G>A	16	88788618	88788618	G	A	PIEZO1	c.4955+8C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88788618G>A	(Likely) benign	3 labs	15611825fd
17:7605071 WRAP53 C>T	17	7605071	7605071	C	T	WRAP53	c.919C>T	NM_018081.2	NP_060551.2:p.(Arg307Trp)	NC_000017.10:g.7605071C>T	VUS	2 labs	156fd86770
4:108871574 CYP2U1 A>T	4	108871574	108871574	A	T	CYP2U1	c.1630A>T	NM_183075.2	NP_898898.1:p.(Arg544Ter)	NC_000004.11:g.108871574A>T	VUS	2 labs	1563276b91
8:145737350 RECQL4 C>G	8	145737350	145737350	C	G	RECQL4	c.3337G>C	NM_004260.3	NP_004251.3:p.(Gly1113Arg)	NC_000008.10:g.145737350C>G	(Likely) benign	3 labs	15647ab1d0
8:94794620 TMEM67 C>T	8	94794620	94794620	C	T	TMEM67	c.1066-3C>T	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94794620C>T	(Likely) benign	3 labs	15654930b0
5:13810149 DNAH5 G>A	5	13810149	13810149	G	A	DNAH5	c.7609+19C>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13810149G>A	(Likely) benign	2 labs	156ca3b48f
22:38122505 TRIOBP G>C	22	38122505	38122505	G	C	TRIOBP	c.3942G>C	NM_001039141.2	NP_001034230.1:p.(Glu1314Asp)	NC_000022.10:g.38122505G>C	VUS	2 labs	15680e9865
2:169989127 LRP2 A>G	2	169989127	169989127	A	G	LRP2	c.13685T>C	NM_004525.3	NP_004516.2:p.(Val4562Ala)	NC_000002.11:g.169989127A>G	(Likely) benign	2 labs	15688f90ab
2:179441299 TTN TG>T	2	179441299	179441301	TG	T	TTN	c.69671del	NM_001267550.2	NP_001254479.2:p.(Pro23224HisfsTer10)	NC_000002.11:g.179441301del	(Likely) pathogenic	2 labs	e36154c13a
12:69085797 NUP107 G>A	12	69085797	69085797	G	A	NUP107	c.266G>A	NM_001330192.1	NP_001317121.1:p.(Arg89His)	NC_000012.11:g.69085797G>A	(Likely) benign	2 labs	156de5e467
2:220285595 DES C>T	2	220285595	220285595	C	T	DES	c.943C>T	NM_001927.4	NP_001918.3:p.(Arg315Cys)	NC_000002.11:g.220285595C>T	VUS	2 labs	e362f8ae3b
17:43515227 PLEKHM1 G>A	17	43515227	43515227	G	A	PLEKHM1	c.3168C>T	NM_014798.2	NP_055613.1:p.(Ala1056=)	NC_000017.10:g.43515227G>A	(Likely) benign	2 labs	1572b8ab68
11:6655332 DCHS1 T>A	11	6655332	6655332	T	A	DCHS1	c.1986+17A>T	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6655332T>A	(Likely) benign	2 labs	156e9613c9
13:23907119 SACS T>C	13	23907119	23907119	T	C	SACS	c.10896A>G	NM_014363.5	NP_055178.3:p.(Ile3632Met)	NC_000013.10:g.23907119T>C	(Likely) benign	3 labs	157998ad96
17:37821644 TCAP C>T	17	37821644	37821644	C	T	TCAP	c.32C>T	NM_003673.4	NP_003664.1:p.(Ser11Leu)	NC_000017.10:g.37821644C>T	(Likely) benign	4 labs	157bad81ca
5:176719045 NSD1 C>T	5	176719045	176719045	C	T	NSD1	c.6349C>T	NM_022455.4	NP_071900.2:p.(Arg2117Ter)	NC_000005.9:g.176719045C>T	(Likely) pathogenic	2 labs	15831eeb70
3:49548008 DAG1 C>G	3	49548008	49548008	C	G	DAG1	c.41=	NM_001165928.3	NP_001159400.2:p.(Trp14=)	NC_000003.11:g.49548008C>G	(Likely) benign	2 labs	e363a48ab0
9:139333568 INPP5E C>A	9	139333568	139333568	C	A	INPP5E	c.304G>T	NM_019892.5	NP_063945.2:p.(Asp102Tyr)	NC_000009.11:g.139333568C>A	(Likely) benign	2 labs	1586a00bb8
18:60036498 TNFRSF11A C>T	18	60036498	60036498	C	T	TNFRSF11A	c.1306C>T	NM_001278268.1	NP_001265197.1:p.(Arg436Trp)	NC_000018.9:g.60036498C>T	(Likely) benign	2 labs	15874eb42d
10:61956386 ANK3 G>GAAA	10	61956386	61956398	G	GAAA	ANK3	c.1690-6_1690-4dup	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956396_61956398dup	(Likely) benign	2 labs	158c41112b
17:18046110 MYO15A C>T	17	18046110	18046110	C	T	MYO15A	c.5866C>T	NM_016239.3	NP_057323.3:p.(Arg1956Trp)	NC_000017.10:g.18046110C>T	VUS	2 labs	1595709e4a
13:108861663 LIG4 C>T	13	108861663	108861663	C	T	LIG4	c.1954G>A	NM_002312.3	NP_002303.2:p.(Val652Ile)	NC_000013.10:g.108861663C>T	(Likely) benign	2 labs	159823ea4a
13:25457412 CPAP G>A	13	25457412	25457412	G	A	CPAP	c.3920C>T	NM_018451.4	NP_060921.3:p.(Thr1307Ile)	NC_000013.10:g.25457412G>A	VUS	2 labs	15a24a84db
12:32994073 PKP2 G>A	12	32994073	32994073	G	A	PKP2	c.1577C>T	NM_004572.4	NP_004563.2:p.(Thr526Met)	NC_000012.11:g.32994073G>A	(Likely) benign	4 labs	15a4463f83
2:202492883 TMEM237 TAA>T	2	202492883	202492887	TAA	T	TMEM237	c.846-13_846-12del	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202492886_202492887del	(Likely) benign	2 labs	15afce421b
13:32914956 BRCA2 T>G	13	32914956	32914956	T	G	BRCA2	c.6464T>G	NM_000059.3	NP_000050.2:p.(Leu2155Arg)	NC_000013.10:g.32914956T>G	(Likely) benign	2 labs	15ac2076d3
11:17662573 OTOG G>A	11	17662573	17662573	G	A	OTOG	c.8161G>A	NM_001277269.1	NP_001264198.1:p.(Asp2721Asn)	NC_000011.9:g.17662573G>A	VUS	2 labs	15adcdefbd
3:53221365 PRKCD C>T	3	53221365	53221365	C	T	PRKCD	c.1362C>T	NM_006254.4	NP_006245.2:p.(Ala454=)	NC_000003.11:g.53221365C>T	(Likely) benign	2 labs	15b3351165
2:179527540 TTN C>A	2	179527540	179527540	C	A	TTN	c.36791-1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527540C>A	VUS	2 labs	e374e63bb6
10:112404376 RBM20 A>C	10	112404376	112404376	A	C	RBM20	c.164A>C	NM_001134363.1	NP_001127835.1:p.(Gln55Pro)	NC_000010.10:g.112404376A>C	(Likely) benign	2 labs	15b7d89f30
7:151265921 PRKAG2 C>T	7	151265921	151265921	C	T	PRKAG2	c.1114G>A	NM_016203.4	NP_057287.2:p.(Asp372Asn)	NC_000007.13:g.151265921C>T	VUS	4 labs	e37500f0df
14:51230579 NIN ACTT>A	14	51230579	51230587	ACTT	A	NIN	c.1736_1738del	NM_020921.4	NP_065972.4:p.(Glu579del)	NC_000014.8:g.51230585_51230587del	VUS	2 labs	15bb24fa35
13:32914817 BRCA2 G>A	13	32914817	32914817	G	A	BRCA2	c.6325G>A	NM_000059.3	NP_000050.2:p.(Val2109Ile)	NC_000013.10:g.32914817G>A	(Likely) benign	2 labs	15bf5657ca
6:108197874 SEC63 C>CAA	6	108197874	108197893	C	CAA	SEC63	c.1936-10_1936-9dup	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108197892_108197893dup	(Likely) benign	2 labs	15c1e14a4d
10:101473218 COX15 A>G	10	101473218	101473218	A	G	COX15	c.1120T>C	NM_004376.7	NP_004367.2:p.(Phe374Leu)	NC_000010.10:g.101473218A>G	(Likely) benign	2 labs	e377cdb892
10:73082639 SLC29A3 T>G	10	73082639	73082639	T	G	SLC29A3	c.128T>G	NM_001174098.1	NP_001167569.1:p.(Leu43Arg)	NC_000010.10:g.73082639T>G	(Likely) benign	2 labs	15c8269823
18:43534568 EPG5 G>A	18	43534568	43534568	G	A	EPG5	c.800C>T	NM_020964.3	NP_066015.2:p.(Ser267Leu)	NC_000018.9:g.43534568G>A	(Likely) benign	2 labs	15cd553990
2:179642622 TTN G>T	2	179642622	179642622	G	T	TTN	c.4289C>A	NM_001267550.2	NP_001254479.2:p.(Ala1430Glu)	NC_000002.11:g.179642622G>T	VUS	2 labs	15d4aeefc5
6:129762036 LAMA2 A>G	6	129762036	129762036	A	G	LAMA2	c.6161A>G	NM_000426.3	NP_000417.2:p.(Gln2054Arg)	NC_000006.11:g.129762036A>G	(Likely) benign	3 labs	15d6d6ad23
16:89836965 FANCA C>T	16	89836965	89836965	C	T	FANCA	c.2222+7G>A	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89836965C>T	(Likely) benign	2 labs	15deee56ec
6:152577847 SYNE1 G>A	6	152577847	152577847	G	A	SYNE1	c.19026C>T	NM_182961.3	NP_892006.3:p.(Asp6342=)	NC_000006.11:g.152577847G>A	(Likely) benign	2 labs	15e378aae0
7:42262905 GLI3 C>G	7	42262905	42262905	C	G	GLI3	c.-42-11G>C	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42262905C>G	(Likely) benign	2 labs	15f1d25984
17:29654616 NF1 G>T	17	29654616	29654616	G	T	NF1	c.5305G>T	NM_000267.3	NP_000258.1:p.(Glu1769Ter)	NC_000017.10:g.29654616G>T	(Likely) pathogenic	2 labs	15f6e690d1
9:139402748 NOTCH1 G>T	9	139402748	139402748	G	T	NOTCH1	c.3261C>A	NM_017617.5	NP_060087.3:p.(Ser1087Arg)	NC_000009.11:g.139402748G>T	VUS	2 labs	1603804bb5
8:38314890 FGFR1 C>T	8	38314890	38314890	C	T	FGFR1	c.75G>A	NM_023110.3	NP_075598.2:p.(Pro25=)	NC_000008.10:g.38314890C>T	(Likely) benign	2 labs	1604ec6784
7:21630982 DNAH11 A>G	7	21630982	21630982	A	G	DNAH11	c.2454A>G	NM_001277115.2	NP_001264044.1:p.(Ala818=)	NC_000007.13:g.21630982A>G	(Likely) benign	2 labs	16136231d2
16:2158419 PKD1 G>A	16	2158419	2158419	G	A	PKD1	c.6749C>T	NM_001009944.2	NP_001009944.2:p.(Thr2250Met)	NC_000016.9:g.2158419G>A	(Likely) benign	4 labs	16108eaa03
16:23614901 PALB2 C>T	16	23614901	23614901	C	T	PALB2	c.3440G>A	NM_024675.4	NP_078951.2:p.(Cys1147Tyr)	NC_000016.9:g.23614901C>T	VUS	2 labs	e3889476ec
3:138664847 FOXL2 C>T	3	138664847	138664847	C	T	FOXL2	c.718G>A	NM_023067.4	NP_075555.1:p.(Gly240Ser)	NC_000003.11:g.138664847C>T	VUS	2 labs	161c41d496
5:149245790 PDE6A A>G	5	149245790	149245790	A	G	PDE6A	c.2301T>C	NM_000440.3	NP_000431.2:p.(Asp767=)	NC_000005.9:g.149245790A>G	(Likely) benign	2 labs	161ceec0f3
19:42383350 CD79A C>T	19	42383350	42383350	C	T	CD79A	c.370C>T	NM_001783.4	NP_001774.1:p.(Arg124Cys)	NC_000019.9:g.42383350C>T	VUS	2 labs	e38b7ece2d
X:134992651 SAGE1 G>C	X	134992651	134992651	G	C	SAGE1	c.1942G>C	NM_018666.2	NP_061136.2:p.(Ala648Pro)	NC_000023.10:g.134992651G>C	(Likely) benign	2 labs	16246832c8
18:20573157 RBBP8 A>G	18	20573157	20573157	A	G	RBBP8	c.1367A>G	NM_002894.2	NP_002885.1:p.(His456Arg)	NC_000018.9:g.20573157A>G	(Likely) benign	2 labs	162d337c73
18:29099765 DSG2 G>T	18	29099765	29099765	G	T	DSG2	c.82-1G>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29099765G>T	(Likely) pathogenic	2 labs	e38b9701a3
5:34945012 DNAJC21 G>A	5	34945012	34945012	G	A	DNAJC21	c.1024G>A	NM_194283.3	NP_919259.3:p.(Val342Met)	NC_000005.9:g.34945012G>A	(Likely) benign	3 labs	16333afa71
16:88789333 PIEZO1 C>T	16	88789333	88789333	C	T	PIEZO1	c.4580G>A	NM_001142864.4	NP_001136336.2:p.(Arg1527His)	NC_000016.9:g.88789333C>T	(Likely) benign	3 labs	1634084ee9
X:27765399 DCAF8L2 AGAGGAGGAG>A	X	27765399	27765446	AGAGGAGGAG	A	DCAF8L2	c.426_434del	NM_001353448.2	NP_001340377.1:p.(Glu145_Glu147del)	NC_000023.10:g.27765438_27765446del	(Likely) benign	3 labs	162a853ef1
2:179579037 TTN C>A	2	179579037	179579037	C	A	TTN	c.26464G>T	NM_001267550.2	NP_001254479.2:p.(Ala8822Ser)	NC_000002.11:g.179579037C>A	VUS	2 labs	e390be3302
16:8904956 PMM2 G>A	16	8904956	8904956	G	A	PMM2	c.368G>A	NM_000303.3	NP_000294.1:p.(Arg123Gln)	NC_000016.9:g.8904956G>A	(Likely) pathogenic	4 labs	e39165f987
8:61778159 CHD7 G>A	8	61778159	61778159	G	A	CHD7				NC_000008.10:g.61778159G>A	(Likely) benign	2 labs	19adde5ccc
19:54403489 PRKCG C>T	19	54403489	54403489	C	T	PRKCG	c.1284C>T	NM_002739.3	NP_002730.1:p.(Asp428=)	NC_000019.9:g.54403489C>T	(Likely) benign	2 labs	163fc0bc7d
9:37783990 EXOSC3 T>G	9	37783990	37783990	T	G	EXOSC3	c.395A>C	NM_016042.4	NP_057126.2:p.(Asp132Ala)	NC_000009.11:g.37783990T>G	(Likely) pathogenic	4 labs	163b731d6b
X:153594966 FLNA G>A	X	153594966	153594966	G	A	FLNA	c.1029C>T	NM_001110556.2	NP_001104026.1:p.(Ser343=)	NC_000023.10:g.153594966G>A	(Likely) benign	3 labs	163cff875c
X:44732825 KDM6A A>ACCGCCGCCGCTG	X	44732825	44732848	A	ACCGCCGCCGCTG	KDM6A	c.40_51dup	NM_001291415.2	NP_001278344.1:p.(Ala14_Ala17dup)	NC_000023.10:g.44732837_44732848dup	(Likely) benign	2 labs	164916a99f
20:2384151 TGM6 G>A	20	2384151	2384151	G	A	TGM6	c.1093+5G>A	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2384151G>A	(Likely) benign	2 labs	165656615d
8:133186542 KCNQ3 G>A	8	133186542	133186542	G	A	KCNQ3	c.988C>T	NM_004519.4	NP_004510.1:p.(Arg330Cys)	NC_000008.10:g.133186542G>A	(Likely) pathogenic	3 labs	e39952dce6
1:230845755 AGT T>C	1	230845755	230845755	T	C	AGT	c.842A>G	NM_000029.3	NP_000020.1:p.(Tyr281Cys)	NC_000001.10:g.230845755T>C	(Likely) benign	2 labs	1664eaa268
2:179502080 TTN G>A	2	179502080	179502080	G	A	TTN	c.40927+16C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179502080G>A	(Likely) benign	4 labs	166735d258
13:32929232 BRCA2 A>G	13	32929232	32929232	A	G	BRCA2	c.7242A>G	NM_000059.4	NP_000050.3:p.(Ser2414=)	NC_000013.10:g.32929232A>G	(Likely) benign	6 labs	166b503352
5:1294397 TERT C>T	5	1294397	1294397	C	T	TERT	c.604G>A	NM_198253.3	NP_937983.2:p.(Ala202Thr)	NC_000005.9:g.1294397C>T	VUS	4 labs	16738afbfd
12:52115531 SCN8A AGCTACAGCG>A	12	52115531	52115557	AGCTACAGCG	A	SCN8A	c.1855_1863del	NM_001330260.2	NP_001317189.1:p.(Gly619_Ser621del)	NC_000012.11:g.52115549_52115557del	VUS	2 labs	1673d4a0d8
1:197070442 ASPM G>T	1	197070442	197070442	G	T	ASPM	c.7939C>A	NM_018136.5	NP_060606.3:p.(Leu2647Ile)	NC_000001.10:g.197070442G>T	(Likely) benign	3 labs	1674bd4b23
X:71813117 PHKA1 C>G	X	71813117	71813117	C	G	PHKA1	c.3080G>C	NM_002637.3	NP_002628.2:p.(Gly1027Ala)	NC_000023.10:g.71813117C>G	(Likely) benign	3 labs	16755396af
5:110440034 WDR36 G>T	5	110440034	110440034	G	T	WDR36	c.1057G>T	NM_139281.2	NP_644810.1:p.(Ala353Ser)	NC_000005.9:g.110440034G>T	VUS	2 labs	167d81df5c
1:5926507 NPHP4 T>C	1	5926507	5926507	T	C	NPHP4	c.3570A>G	NM_015102.5	NP_055917.1:p.(Glu1190=)	NC_000001.10:g.5926507T>C	(Likely) benign	3 labs	169156411f
16:2161673 PKD1 G>A	16	2161673	2161673	G	A	PKD1	c.3495C>T	NM_001009944.2	NP_001009944.2:p.(Asp1165=)	NC_000016.9:g.2161673G>A	(Likely) benign	3 labs	1694527c5e
6:152454556 SYNE1 A>G	6	152454556	152454556	A	G	SYNE1	c.25856T>C	NM_182961.4	NP_892006.3:p.(Leu8619Pro)	NC_000006.11:g.152454556A>G	(Likely) benign	3 labs	16a662a25b
5:37226942 CPLANE1 T>C	5	37226942	37226942	T	C	CPLANE1	c.1755A>G	NM_023073.3	NP_075561.3:p.(Ser585=)	NC_000005.9:g.37226942T>C	(Likely) benign	2 labs	16a8167694
19:33353398 SLC7A9 G>T	19	33353398	33353398	G	T	SLC7A9	c.573C>A	NM_001243036.1	NP_001229965.1:p.(Ile191=)	NC_000019.9:g.33353398G>T	(Likely) benign	2 labs	16adb24be2
1:78395071 NEXN T>A	1	78395071	78395071	T	A	NEXN	c.935T>A	NM_144573.4	NP_653174.3:p.(Leu312His)	NC_000001.10:g.78395071T>A	VUS	3 labs	16b722a761
2:179429387 TTN G>C	2	179429387	179429387	G	C	TTN	c.73768C>G	NM_133378.4	NP_596869.4:p.(Pro24590Ala)	NC_000002.11:g.179429387G>C	(Likely) benign	4 labs	16bf2a7431
17:39921271 JUP G>A	17	39921271	39921271	G	A	JUP	c.958C>T	NM_021991.2	NP_068831.1:p.(Arg320Cys)	NC_000017.10:g.39921271G>A	VUS	2 labs	16cf921d57
9:130588091 ENG C>T	9	130588091	130588091	C	T	ENG	c.572G>A	NM_000118.3	NP_000109.1:p.(Gly191Asp)	NC_000009.11:g.130588091C>T	(Likely) benign	4 labs	e3b4d2942f
1:160097455 ATP1A2 C>T	1	160097455	160097455	C	T	ATP1A2				NC_000001.10:g.160097455C>T	VUS	2 labs	16d802bac0
3:196199542 RNF168 T>C	3	196199542	196199542	T	C	RNF168	c.864A>G	NM_152617.3	NP_689830.2:p.(Gln288=)	NC_000003.11:g.196199542T>C	(Likely) benign	2 labs	16deee2025
11:59540697 STX3 A>G	11	59540697	59540697	A	G	STX3	c.44A>G	NM_004177.4	NP_004168.1:p.(Gln15Arg)	NC_000011.9:g.59540697A>G	(Likely) benign	2 labs	16e04b87ac
19:41111069 LTBP4 G>A	19	41111069	41111069	G	A	LTBP4	c.580G>A	NM_001042544.1	NP_001036009.1:p.(Val194Ile)	NC_000019.9:g.41111069G>A	(Likely) benign	2 labs	e3b8852ed0
9:135796749 TSC1 C>T	9	135796749	135796749	C	T	TSC1	c.737+1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135796749C>T	(Likely) pathogenic	2 labs	16f2f2dc01
16:88787097 PIEZO1 C>T	16	88787097	88787097	C	T	PIEZO1	c.5728G>A	NM_001142864.4	NP_001136336.2:p.(Glu1910Lys)	NC_000016.9:g.88787097C>T	(Likely) benign	3 labs	16f57d397f
6:33411228 SYNGAP1 C>T	6	33411228	33411228	C	T	SYNGAP1	c.2899C>T	NM_006772.3	NP_006763.2:p.(Arg967Ter)	NC_000006.11:g.33411228C>T	(Likely) pathogenic	3 labs	16f80bfa33
19:50826569 KCNC3 C>T	19	50826569	50826569	C	T	KCNC3	c.1641G>A	NM_004977.2	NP_004968.2:p.(Ser547=)	NC_000019.9:g.50826569C>T	(Likely) benign	2 labs	16fa3dbfd1
15:77317955 PSTPIP1 G>A	15	77317955	77317955	G	A	PSTPIP1	c.327+10G>A	NM_001321136.1	NP_001308065.1:p.?	NC_000015.9:g.77317955G>A	(Likely) benign	2 labs	16faa68e4b
8:140744353 TRAPPC9 G>A	8	140744353	140744353	G	A	TRAPPC9	c.3121C>T	NM_001321646.1	NP_001308575.1:p.(Arg1041Trp)	NC_000008.10:g.140744353G>A	VUS	2 labs	16fe7f5fc7
18:29121196 DSG2 C>T	18	29121196	29121196	C	T	DSG2	c.1920C>T	NM_001943.5	NP_001934.2:p.(Gly640=)	NC_000018.9:g.29121196C>T	(Likely) benign	4 labs	170284127c
X:48681906 HDAC6 C>G	X	48681906	48681906	C	G	HDAC6	c.3097C>G	NM_001321226.1	NP_001308155.1:p.(Pro1033Ala)	NC_000023.10:g.48681906C>G	(Likely) benign	2 labs	17033acd6e
2:227886828 COL4A4 C>T	2	227886828	227886828	C	T	COL4A4	c.4152G>A	NM_000092.4	NP_000083.3:p.(Ala1384=)	NC_000002.11:g.227886828C>T	(Likely) benign	3 labs	1706e1f935
12:12283804 LRP6 G>A	12	12283804	12283804	G	A	LRP6	c.3994C>T	NM_002336.3	NP_002327.2:p.(Arg1332Cys)	NC_000012.11:g.12283804G>A	VUS	2 labs	e3bbe2f77f
X:2852949 ARSL A>C	X	2852949	2852949	A	C	ARSL	c.1769T>G	NM_001282628.1	NP_001269557.1:p.(Ile590Ser)	NC_000023.10:g.2852949A>C	(Likely) benign	3 labs	1719896e80
9:98270531 PTCH1 C>T	9	98270531	98270531	C	T	PTCH1	c.113G>A	NM_000264.3	NP_000255.2:p.(Gly38Glu)	NC_000009.11:g.98270531C>T	(Likely) benign	2 labs	171a0cf44a
7:103183170 RELN A>G	7	103183170	103183170	A	G	RELN	c.6671+8T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103183170A>G	(Likely) benign	2 labs	171360367e
16:49672634 ZNF423 G>A	16	49672634	49672634	G	A	ZNF423	c.249C>T	NM_001271620.2	NP_001258549.1:p.(Cys83=)	NC_000016.9:g.49672634G>A	(Likely) benign	2 labs	171635365a
19:16606545 CALR3 C>T	19	16606545	16606545	C	T	CALR3	c.193+17G>A	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606545C>T	(Likely) benign	2 labs	1728012c44
1:213032387 FLVCR1 A>G	1	213032387	213032387	A	G	FLVCR1	c.593A>G	NM_014053.3	NP_054772.1:p.(His198Arg)	NC_000001.10:g.213032387A>G	VUS	2 labs	172cd21ae9
10:88447032 LDB3 A>G	10	88447032	88447032	A	G	LDB3	c.893+3A>G	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88447032A>G	(Likely) benign	2 labs	172c5e7afd
12:31247556 DDX11 C>CT	12	31247556	31247557	C	CT	DDX11	c.1403dup	NM_030653.3	NP_085911.2:p.(Ser469ValfsTer32)	NC_000012.11:g.31247557dup	(Likely) pathogenic	2 labs	173bcfb7d5
12:22047091 ABCC9 C>T	12	22047091	22047091	C	T	ABCC9	c.1677G>A	NM_020297.4	NP_064693.2:p.(Ala559=)	NC_000012.11:g.22047091C>T	(Likely) benign	3 labs	173cd1b6ff
9:140772415 CACNA1B C>T	9	140772415	140772415	C	T	CACNA1B	c.30C>T	NM_000718.4	NP_000709.1:p.(Gly10=)	NC_000009.11:g.140772415C>T	(Likely) benign	2 labs	174558fb92
1:43395540 SLC2A1 G>A	1	43395540	43395540	G	A	SLC2A1	c.679+4C>T	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43395540G>A	(Likely) benign	2 labs	174abcbcae
X:57319016 FAAH2 G>A	X	57319016	57319016	G	A	FAAH2	c.275+3G>A	NM_174912.3	NP_777572.2:p.?	NC_000023.10:g.57319016G>A	(Likely) benign	2 labs	174eb9efa2
11:68216304 LRP5 C>T	11	68216304	68216304	C	T	LRP5	c.2871C>T	NM_001291902.2	NP_001278831.1:p.(Pro957=)	NC_000011.9:g.68216304C>T	(Likely) benign	2 labs	175098ab65
18:11689814 GNAL G>A	18	11689814	11689814	G	A	GNAL	c.252G>A	NM_182978.4	NP_892023.1:p.(Glu84=)	NC_000018.9:g.11689814G>A	(Likely) benign	2 labs	1757b1165f
5:11412180 CTNND2 A>C	5	11412180	11412180	A	C	CTNND2	c.289T>G	NM_001332.4	NP_001323.1:p.(Ser97Ala)	NC_000005.9:g.11412180A>C	VUS	2 labs	175f8ef753
12:49433649 KMT2D C>T	12	49433649	49433649	C	T	KMT2D	c.7904G>A	NM_003482.3	NP_003473.3:p.(Arg2635Gln)	NC_000012.11:g.49433649C>T	(Likely) benign	2 labs	176be1b76e
20:44048224 PIGT T>C	20	44048224	44048224	T	C	PIGT	c.675T>C	NM_015937.6	NP_057021.2:p.(Val225=)	NC_000020.10:g.44048224T>C	(Likely) benign	3 labs	1760e487dc
8:144999462 PLEC C>T	8	144999462	144999462	C	T	PLEC	c.5046G>A	NM_201380.3	NP_958782.1:p.(Ala1682=)	NC_000008.10:g.144999462C>T	(Likely) benign	2 labs	1771db8dfe
5:13902220 DNAH5 T>C	5	13902220	13902220	T	C	DNAH5	c.1672A>G	NM_001369.3	NP_001360.1:p.(Thr558Ala)	NC_000005.9:g.13902220T>C	(Likely) benign	2 labs	177346447b
6:70964697 COL9A1 C>T	6	70964697	70964697	C	T	COL9A1	c.1634G>A	NM_001851.4	NP_001842.3:p.(Arg545His)	NC_000006.11:g.70964697C>T	VUS	2 labs	1779048ac5
15:31212776 FAN1 C>T	15	31212776	31212776	C	T	FAN1	c.1972C>T	NM_014967.4	NP_055782.3:p.(Arg658Trp)	NC_000015.9:g.31212776C>T	VUS	2 labs	177bf16920
X:31747837 DMD C>T	X	31747837	31747837	C	T	DMD	c.7571G>A	NM_004006.3	NP_003997.2:p.(Arg2524His)	NC_000023.10:g.31747837C>T	(Likely) benign	2 labs	17812e70a7
11:67816547 TCIRG1 G>A	11	67816547	67816547	G	A	TCIRG1	c.780-1G>A	NM_001351059.1	NP_001337988.1:p.?	NC_000011.9:g.67816547G>A	(Likely) pathogenic	3 labs	1780e7c350
5:138266164 CTNNA1 G>A	5	138266164	138266164	G	A	CTNNA1	c.2013G>A	NM_001903.5	NP_001894.2:p.(Ala671=)	NC_000005.9:g.138266164G>A	(Likely) benign	3 labs	e3cf51fa34
1:62970351 DOCK7 C>T	1	62970351	62970351	C	T	DOCK7	c.4714G>A	NM_001367561.1	NP_001354490.1:p.(Ala1572Thr)	NC_000001.10:g.62970351C>T	VUS	2 labs	1784800307
21:47808772 PCNT G>A	21	47808772	47808772	G	A	PCNT	c.3580G>A	NM_006031.5	NP_006022.3:p.(Ala1194Thr)	NC_000021.8:g.47808772G>A	(Likely) benign	2 labs	178e840c06
1:57341803 C8A G>A	1	57341803	57341803	G	A	C8A	c.385G>A	NM_000562.3	NP_000553.1:p.(Asp129Asn)	NC_000001.10:g.57341803G>A	(Likely) benign	4 labs	179fc730fd
13:32911295 BRCA2 G>C	13	32911295	32911295	G	C	BRCA2	c.2803G>C	NM_000059.3	NP_000050.2:p.(Asp935His)	NC_000013.10:g.32911295G>C	(Likely) benign	2 labs	17a019939c
9:135946581 CEL G>T	9	135946581	135946581	G	T	CEL	c.1701G>T	NM_001807.4	NP_001798.2:p.(Gly567=)	NC_000009.11:g.135946581G>T	(Likely) benign	2 labs	17a57c5527
4:106395181 PPA2 G>A	4	106395181	106395181	G	A	PPA2	c.27C>T	NM_176869.3	NP_789845.1:p.(Arg9=)	NC_000004.11:g.106395181G>A	(Likely) benign	2 labs	e3cfd0ef60
5:14364857 TRIO G>A	5	14364857	14364857	G	A	TRIO	c.2686G>A	NM_007118.3	NP_009049.2:p.(Ala896Thr)	NC_000005.9:g.14364857G>A	(Likely) benign	3 labs	17af981e94
5:38933303 OSMR A>G	5	38933303	38933303	A	G	OSMR	c.2697A>G	NM_003999.2	NP_003990.1:p.(Lys899=)	NC_000005.9:g.38933303A>G	(Likely) benign	2 labs	17bad9670d
16:28947515 CD19 A>G	16	28947515	28947515	A	G	CD19	c.988A>G	NM_001178098.1	NP_001171569.1:p.(Thr330Ala)	NC_000016.9:g.28947515A>G	(Likely) benign	2 labs	17bc8c1b6d
19:55665410 TNNI3 C>T	19	55665410	55665410	C	T	TNNI3	c.537G>A	NM_000363.5	NP_000354.4:p.(Glu179=)	NC_000019.9:g.55665410C>T	(Likely) benign	4 labs	17bee66e6e
2:163123869 IFIH1 C>G	2	163123869	163123869	C	G	IFIH1	c.2919G>C	NM_022168.4	NP_071451.2:p.(Val973=)	NC_000002.11:g.163123869C>G	(Likely) benign	2 labs	17bfa86dbc
12:52139797 SCN8A T>C	12	52139797	52139797	T	C	SCN8A	c.2109T>C	NM_001330260.1	NP_001317189.1:p.(Val703=)	NC_000012.11:g.52139797T>C	(Likely) benign	2 labs	17bfc97252
X:153588202 FLNA C>T	X	153588202	153588202	C	T	FLNA	c.3877G>A	NM_001110556.2	NP_001104026.1:p.(Val1293Ile)	NC_000023.10:g.153588202C>T	(Likely) benign	2 labs	17c8d9046e
2:121747213 GLI2 G>A	2	121747213	121747213	G	A	GLI2	c.3723G>A	NM_005270.4	NP_005261.2:p.(Met1241Ile)	NC_000002.11:g.121747213G>A	(Likely) benign	2 labs	17c975ef86
2:175436496 WIPF1 G>A	2	175436496	175436496	G	A	WIPF1	c.1037C>T	NM_001077269.1	NP_001070737.1:p.(Pro346Leu)	NC_000002.11:g.175436496G>A	VUS	2 labs	17cd187eb6
1:22188289 HSPG2 G>A	1	22188289	22188289	G	A	HSPG2	c.4919C>T	NM_001291860.1	NP_001278789.1:p.(Thr1640Met)	NC_000001.10:g.22188289G>A	(Likely) benign	2 labs	17cacce4f5
3:37090464 MLH1 C>T	3	37090464	37090464	C	T	MLH1	c.2059C>T	NM_000249.3	NP_000240.1:p.(Arg687Trp)	NC_000003.11:g.37090464C>T	(Likely) pathogenic	3 labs	17d4280797
17:18034131 MYO15A AGTGTGT>A	17	18034131	18034185	AGTGTGT	A	MYO15A	c.4038+56_4038+61del	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18034180_18034185del	(Likely) benign	2 labs	17d5ee5985
22:17590541 IL17RA TGGAGGAAGA>T	22	17590541	17590563	TGGAGGAAGA	T	IL17RA	c.2446_2454del	NM_014339.7	NP_055154.3:p.(Glu816_Glu818del)	NC_000022.10:g.17590555_17590563del	(Likely) benign	2 labs	17d58c6b80
13:32915153 BRCA2 A>T	13	32915153	32915153	A	T	BRCA2	c.6661A>T	NM_000059.3	NP_000050.2:p.(Asn2221Tyr)	NC_000013.10:g.32915153A>T	(Likely) benign	2 labs	17e1cd8e73
1:43818179 MPL T>A	1	43818179	43818179	T	A	MPL	c.1654-10T>A	NM_005373.2	NP_005364.1:p.?	NC_000001.10:g.43818179T>A	(Likely) benign	2 labs	17e8ca3c83
6:87969411 ZNF292 G>T	6	87969411	87969411	G	T	ZNF292	c.6064G>T	NM_015021.2	NP_055836.1:p.(Ala2022Ser)	NC_000006.11:g.87969411G>T	(Likely) benign	2 labs	17f219fdb2
2:47702265 MSH2 C>T	2	47702265	47702265	C	T	MSH2	c.1861C>T	NM_000251.3	NP_000242.1:p.(Arg621Ter)	NC_000002.11:g.47702265C>T	(Likely) pathogenic	4 labs	17ff8dbeb3
13:32929080 BRCA2 GA>G	13	32929080	32929082	GA	G	BRCA2	c.7092del	NM_000059.4	NP_000050.3:p.(Glu2364AspfsTer3)	NC_000013.10:g.32929082del	(Likely) pathogenic	2 labs	1809cf4c63
10:112724120 SHOC2 A>G	10	112724120	112724120	A	G	SHOC2	c.4A>G	NM_001324337.1	NP_001311266.1:p.(Ser2Gly)	NC_000010.10:g.112724120A>G	(Likely) pathogenic	2 labs	18124a7b8d
2:238280543 COL6A3 C>T	2	238280543	238280543	C	T	COL6A3	c.4117G>A	NM_004369.3	NP_004360.2:p.(Ala1373Thr)	NC_000002.11:g.238280543C>T	(Likely) benign	2 labs	181f7f6771
13:111102126 COL4A2 C>T	13	111102126	111102126	C	T	COL4A2	c.1179C>T	NM_001846.4	NP_001837.2:p.(Ile393=)	NC_000013.10:g.111102126C>T	(Likely) benign	2 labs	181fe4a7d2
19:7447761 ARHGEF18 T>C	19	7447761	7447761	T	C	ARHGEF18	c.806T>C	NM_001367823.1	NP_001354752.1:p.(Val269Ala)	NC_000019.9:g.7447761T>C	VUS	2 labs	18269a00de
3:10088266 FANCD2 G>T	3	10088266	10088266	G	T	FANCD2	c.1137G>T	NM_033084.6	NP_149075.2:p.(Val379=)	NC_000003.11:g.10088266G>T	(Likely) benign	2 labs	e3e0ef8480
4:187630517 FAT1 G>A	4	187630517	187630517	G	A	FAT1	c.465C>T	NM_005245.3	NP_005236.2:p.(Ser155=)	NC_000004.11:g.187630517G>A	(Likely) benign	2 labs	182a7a79e1
19:8669931 ADAMTS10 G>C	19	8669931	8669931	G	C	ADAMTS10	c.401=	NM_030957.4	NP_112219.3:p.(Ser134=)	NC_000019.9:g.8669931G>C	(Likely) benign	3 labs	e3e2ace6e7
1:111147192 KCNA2 G>A	1	111147192	111147192	G	A	KCNA2	c.213C>T	NM_004974.3	NP_004965.1:p.(Pro71=)	NC_000001.10:g.111147192G>A	(Likely) benign	2 labs	1830be2ef3
20:2380396 TGM6 G>A	20	2380396	2380396	G	A	TGM6	c.850+12G>A	NM_198994.3	NP_945345.2:p.?	NC_000020.10:g.2380396G>A	(Likely) benign	3 labs	1833a5aed2
14:77786793 POMT2 C>A	14	77786793	77786793	C	A	POMT2	c.232G>T	NM_013382.5	NP_037514.2:p.(Glu78Ter)	NC_000014.8:g.77786793C>A	(Likely) pathogenic	2 labs	18366b2596
7:73474338 ELN G>A	7	73474338	73474338	G	A	ELN	c.1624G>A	NM_001278939.1	NP_001265868.1:p.(Val542Ile)	NC_000007.13:g.73474338G>A	(Likely) benign	2 labs	1838a17a81
13:23929095 SACS T>C	13	23929095	23929095	T	C	SACS	c.1656A>G	NM_014363.6	NP_055178.3:p.(Leu552=)	NC_000013.10:g.23929095T>C	(Likely) benign	3 labs	e3ed5f6fed
9:396837 DOCK8 G>A	9	396837	396837	G	A	DOCK8	c.3023G>A	NM_203447.4	NP_982272.2:p.(Arg1008Gln)	NC_000009.11:g.396837G>A	VUS	3 labs	1857a42c1d
14:20944569 PNP G>A	14	20944569	20944569	G	A	PNP	c.679G>A	NM_000270.3	NP_000261.2:p.(Val227Ile)	NC_000014.8:g.20944569G>A	(Likely) benign	2 labs	185b132eaf
X:153296694 MECP2 G>A	X	153296694	153296694	G	A	MECP2	c.585C>T	NM_004992.3	NP_004983.1:p.(Gly195=)	NC_000023.10:g.153296694G>A	(Likely) benign	2 labs	1863f672ce
2:21238323 APOB G>A	2	21238323	21238323	G	A	APOB	c.3427C>T	NM_000384.3	NP_000375.3:p.(Pro1143Ser)	NC_000002.11:g.21238323G>A	(Likely) benign	2 labs	186064112d
2:166847921 SCN1A A>G	2	166847921	166847921	A	G	SCN1A	c.5864T>C	NM_001202435.3	NP_001189364.1:p.(Ile1955Thr)	NC_000002.11:g.166847921A>G	(Likely) benign	2 labs	e3f1271d41
12:121434510 HNF1A C>T	12	121434510	121434510	C	T	HNF1A	c.1274C>T	NM_000545.5	NP_000536.5:p.(Thr425Met)	NC_000012.11:g.121434510C>T	VUS	2 labs	186dcd4e2e
1:12071605 MFN2 C>CT	1	12071605	12071606	C	CT	MFN2	c.2258dup	NM_014874.4	NP_055689.1:p.(Gln754AlafsTer9)	NC_000001.10:g.12071606dup	(Likely) pathogenic	3 labs	186ada0a3a
17:39925382 JUP C>T	17	39925382	39925382	C	T	JUP	c.546G>A	NM_002230.4	NP_002221.1:p.(Ser182=)	NC_000017.10:g.39925382C>T	(Likely) benign	3 labs	187eb54935
X:148039954 AFF2 C>G	X	148039954	148039954	C	G	AFF2	c.2656C>G	NM_002025.4	NP_002016.2:p.(Pro886Ala)	NC_000023.10:g.148039954C>G	(Likely) benign	4 labs	18839a0225
X:152027402 NSDHL G>A	X	152027402	152027402	G	A	NSDHL	c.356G>A	NM_015922.3	NP_057006.1:p.(Arg119Lys)	NC_000023.10:g.152027402G>A	(Likely) benign	3 labs	1885b7fc90
5:485299 SLC9A3 G>A	5	485299	485299	G	A	SLC9A3	c.723C>T	NM_004174.3	NP_004165.2:p.(Asn241=)	NC_000005.9:g.485299G>A	(Likely) benign	2 labs	18872cdd03
16:2143979 PKD1 C>A	16	2143979	2143979	C	A	PKD1	c.10654G>T	NM_001009944.2	NP_001009944.2:p.(Ala3552Ser)	NC_000016.9:g.2143979C>A	(Likely) benign	3 labs	189b556e7f
11:57080690 TNKS1BP1 C>T	11	57080690	57080690	C	T	TNKS1BP1	c.1472G>A	NM_033396.3	NP_203754.2:p.(Arg491Gln)	NC_000011.9:g.57080690C>T	(Likely) benign	2 labs	18a17fc59b
5:127644929 FBN2 G>A	5	127644929	127644929	G	A	FBN2	c.5353+10C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644929G>A	(Likely) benign	2 labs	189fdf5d1e
6:50803973 TFAP2B C>T	6	50803973	50803973	C	T	TFAP2B	c.801C>T	NM_003221.3	NP_003212.2:p.(Leu267=)	NC_000006.11:g.50803973C>T	(Likely) benign	2 labs	18ac3d4217
8:63976754 TTPA A>G	8	63976754	63976754	A	G	TTPA	c.663+11T>C	NM_000370.3	NP_000361.1:p.?	NC_000008.10:g.63976754A>G	(Likely) benign	3 labs	18b32474ee
8:61769012 CHD7 C>T	8	61769012	61769012	C	T	CHD7				NC_000008.10:g.61769012C>T	(Likely) benign	2 labs	1a8fcdc2e3
5:39342214 C9 G>T	5	39342214	39342214	G	T	C9	c.162C>A	NM_001737.5	NP_001728.1:p.(Cys54Ter)	NC_000005.9:g.39342214G>T	(Likely) pathogenic	3 labs	e3f74054ad
3:11070958 SLC6A1 C>A	3	11070958	11070958	C	A	SLC6A1	c.1243C>A	NM_003042.3	NP_003033.3:p.(Leu415Ile)	NC_000003.11:g.11070958C>A	(Likely) benign	2 labs	18c6e85c5e
16:31471277 ARMC5 G>T	16	31471277	31471277	G	T	ARMC5	c.432G>T	NM_024742.2	NP_079018.1:p.(Ala144=)	NC_000016.9:g.31471277G>T	(Likely) benign	2 labs	18c8ab1889
X:110459759 PAK3 G>A	X	110459759	110459759	G	A	PAK3	c.1518G>A	NM_002578.5	NP_002569.1:p.(Arg506=)	NC_000023.10:g.110459759G>A	(Likely) benign	3 labs	18d41f32ac
5:131013409 FNIP1 A>G	5	131013409	131013409	A	G	FNIP1	c.1506T>C	NM_133372.3	NP_588613.3:p.(Leu502=)	NC_000005.9:g.131013409A>G	(Likely) benign	2 labs	18d7330469
6:83889675 PGM3 T>G	6	83889675	83889675	T	G	PGM3	c.883A>C	NM_001367287.1	NP_001354216.1:p.(Lys295Gln)	NC_000006.11:g.83889675T>G	(Likely) benign	2 labs	18da28e2af
1:237608771 RYR2 G>A	1	237608771	237608771	G	A	RYR2	c.1241G>A	NM_001035.3	NP_001026.2:p.(Arg414His)	NC_000001.10:g.237608771G>A	VUS	2 labs	18d8b9c2c9
1:152278702 FLG T>G	1	152278702	152278702	T	G	FLG	c.8660A>C	NM_002016.1	NP_002007.1:p.(Gln2887Pro)	NC_000001.10:g.152278702T>G	(Likely) benign	3 labs	18dce43c4a
X:153587458 FLNA G>A	X	153587458	153587458	G	A	FLNA	c.4368C>T	NM_001110556.2	NP_001104026.1:p.(Pro1456=)	NC_000023.10:g.153587458G>A	(Likely) benign	2 labs	18e34730f1
11:117266350 CEP164 C>G	11	117266350	117266350	C	G	CEP164	c.3001C>G	NM_014956.5	NP_055771.4:p.(Leu1001Val)	NC_000011.9:g.117266350C>G	VUS	2 labs	18dba26561
7:81358953 HGF C>T	7	81358953	81358953	C	T	HGF	c.1008G>A	NM_000601.6	NP_000592.3:p.(Glu336=)	NC_000007.13:g.81358953C>T	(Likely) benign	2 labs	18e33baef3
16:30199081 CORO1A G>A	16	30199081	30199081	G	A	CORO1A	c.792G>A	NM_007074.3	NP_009005.1:p.(Leu264=)	NC_000016.9:g.30199081G>A	(Likely) benign	2 labs	18e7928c88
8:100733188 VPS13B A>G	8	100733188	100733188	A	G	VPS13B	c.7038A>G	NM_017890.4	NP_060360.3:p.(Val2346=)	NC_000008.10:g.100733188A>G	(Likely) benign	4 labs	18e9edd6b3
X:67272395 OPHN1 G>A	X	67272395	67272395	G	A	OPHN1	c.2362C>T	NM_002547.2	NP_002538.1:p.(Arg788Trp)	NC_000023.10:g.67272395G>A	(Likely) benign	3 labs	18f0141f29
3:14209869 XPC GCTCA>G	3	14209869	14209875	GCTCA	G	XPC	c.420_423del	NM_004628.5	NP_004619.3:p.(Glu141LeufsTer6)	NC_000003.11:g.14209872_14209875del	(Likely) pathogenic	2 labs	18f5238228
11:102987322 DYNC2H1 A>G	11	102987322	102987322	A	G	DYNC2H1	c.645A>G	NM_001080463.1	NP_001073932.1:p.(Leu215=)	NC_000011.9:g.102987322A>G	(Likely) benign	2 labs	18f5fb3615
7:42004664 GLI3 C>T	7	42004664	42004664	C	T	GLI3	c.4007G>A	NM_000168.6	NP_000159.3:p.(Gly1336Glu)	NC_000007.13:g.42004664C>T	(Likely) benign	3 labs	18fdde8ad9
2:179427288 TTN G>A	2	179427288	179427288	G	A	TTN	c.83571C>T	NM_001267550.2	NP_001254479.2:p.(Pro27857=)	NC_000002.11:g.179427288G>A	(Likely) benign	3 labs	1905c4c547
13:20763452 GJB2 A>G	13	20763452	20763452	A	G	GJB2	c.269T>C	NM_004004.6	NP_003995.2:p.(Leu90Pro)	NC_000013.10:g.20763452A>G	(Likely) pathogenic	4 labs	19069027b2
10:121432030 BAG3 C>T	10	121432030	121432030	C	T	BAG3	c.771C>T	NM_004281.4	NP_004272.2:p.(Pro257=)	NC_000010.10:g.121432030C>T	(Likely) benign	5 labs	e405ad2a22
10:26991081 PDSS1 G>T	10	26991081	26991081	G	T	PDSS1	c.-464-10G>T	NM_001321979.1	NP_001308908.1:p.?	NC_000010.10:g.26991081G>T	(Likely) benign	2 labs	1917b4221f
13:39343738 FREM2 G>A	13	39343738	39343738	G	A	FREM2	c.5434G>A	NM_207361.5	NP_997244.4:p.(Ala1812Thr)	NC_000013.10:g.39343738G>A	VUS	2 labs	1918c14f9b
5:149743806 TCOF1 G>A	5	149743806	149743806	G	A	TCOF1	c.295G>A	NM_001135243.1	NP_001128715.1:p.(Ala99Thr)	NC_000005.9:g.149743806G>A	(Likely) benign	2 labs	191b7c8aaf
2:51254911 NRXN1 G>C	2	51254911	51254911	G	C	NRXN1	c.501C>G	NM_001135659.2	NP_001129131.1:p.(Leu167=)	NC_000002.11:g.51254911G>C	(Likely) benign	2 labs	191dab2662
5:112179077 APC T>G	5	112179077	112179077	T	G	APC	c.7786T>G	NM_001354895.1	NP_001341824.1:p.(Ser2596Ala)	NC_000005.9:g.112179077T>G	(Likely) benign	2 labs	19202ce038
8:90949287 NBN G>A	8	90949287	90949287	G	A	NBN	c.1955C>T	NM_001024688.3	NP_001019859.1:p.(Ala652Val)	NC_000008.10:g.90949287G>A	VUS	2 labs	192a506f41
20:56140633 PCK1 G>A	20	56140633	56140633	G	A	PCK1	c.1642G>A	NM_002591.3	NP_002582.3:p.(Ala548Thr)	NC_000020.10:g.56140633G>A	(Likely) benign	2 labs	1920cebcd7
1:215901492 USH2A C>T	1	215901492	215901492	C	T	USH2A	c.11946G>A	NM_206933.2	NP_996816.2:p.(Leu3982=)	NC_000001.10:g.215901492C>T	(Likely) benign	2 labs	192c27f005
19:11227594 LDLR G>A	19	11227594	11227594	G	A	LDLR	c.1765G>A	NM_000527.5	NP_000518.1:p.(Asp589Asn)	NC_000019.9:g.11227594G>A	VUS	2 labs	19234e4891
16:27709831 KATNIP G>A	16	27709831	27709831	G	A	KATNIP	c.1113+10G>A	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27709831G>A	(Likely) benign	2 labs	19373e41a6
X:153792635 IKBKG A>G	X	153792635	153792635	A	G	IKBKG	c.1219A>G	NM_001099857.5	NP_001093327.1:p.(Met407Val)	NC_000023.10:g.153792635A>G	VUS	5 labs	194dae9dcc
12:49443998 KMT2D G>A	12	49443998	49443998	G	A	KMT2D	c.3373C>T	NM_003482.3	NP_003473.3:p.(Leu1125=)	NC_000012.11:g.49443998G>A	(Likely) benign	2 labs	194a22fa2d
6:152557310 SYNE1 C>G	6	152557310	152557310	C	G	SYNE1	c.20328G>C	NM_182961.3	NP_892006.3:p.(Trp6776Cys)	NC_000006.11:g.152557310C>G	VUS	2 labs	194f944653
1:214815863 CENPF A>G	1	214815863	214815863	A	G	CENPF	c.4182A>G	NM_016343.3	NP_057427.3:p.(Thr1394=)	NC_000001.10:g.214815863A>G	(Likely) benign	2 labs	195049ca5e
1:152276824 FLG G>A	1	152276824	152276824	G	A	FLG	c.10538C>T	NM_002016.1	NP_002007.1:p.(Ala3513Val)	NC_000001.10:g.152276824G>A	VUS	2 labs	1957ce753b
1:237886514 RYR2 G>A	1	237886514	237886514	G	A	RYR2	c.10641G>A	NM_001035.2	NP_001026.2:p.(Thr3547=)	NC_000001.10:g.237886514G>A	(Likely) benign	2 labs	1961a9f1f2
9:136505114 DBH A>G	9	136505114	136505114	A	G	DBH	c.486A>G	NM_000787.4	NP_000778.3:p.(Glu162=)	NC_000009.11:g.136505114A>G	(Likely) benign	2 labs	e4215fea23
9:135798867 TSC1 C>T	9	135798867	135798867	C	T	TSC1	c.376G>A	NM_000368.4	NP_000359.1:p.(Val126Ile)	NC_000009.11:g.135798867C>T	(Likely) benign	2 labs	19716dd319
2:48033546 MSH6 C>CT	2	48033546	48033548	C	CT	MSH6	c.3802-43dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033548dup	(Likely) benign	2 labs	1971b6d988
12:125434988 DHX37 C>T	12	125434988	125434988	C	T	DHX37	c.3092G>A	NM_032656.4	NP_116045.2:p.(Arg1031Gln)	NC_000012.11:g.125434988C>T	(Likely) benign	2 labs	197a0d0579
2:179425966 TTN C>T	2	179425966	179425966	C	T	TTN	c.84893G>A	NM_001267550.2	NP_001254479.2:p.(Arg28298Gln)	NC_000002.11:g.179425966C>T	(Likely) benign	2 labs	1983b44880
3:193366595 OPA1 T>TG	3	193366595	193366596	T	TG	OPA1	c.1948dup	NM_130837.2	NP_570850.2:p.(Glu650GlyfsTer4)	NC_000003.11:g.193366596dup	(Likely) pathogenic	2 labs	198c81cdc0
9:80919758 PSAT1 A>C	9	80919758	80919758	A	C	PSAT1	c.299A>C	NM_058179.3	NP_478059.1:p.(Asp100Ala)	NC_000009.11:g.80919758A>C	(Likely) pathogenic	2 labs	199993c18f
10:78850253 KCNMA1 G>A	10	78850253	78850253	G	A	KCNMA1	c.1239C>T	NM_001322830.1	NP_001309759.1:p.(Cys413=)	NC_000010.10:g.78850253G>A	(Likely) benign	2 labs	199a41d78b
1:5967244 NPHP4 C>T	1	5967244	5967244	C	T	NPHP4	c.1542G>A	NM_015102.5	NP_055917.1:p.(Pro514=)	NC_000001.10:g.5967244C>T	(Likely) benign	3 labs	1993b20adc
22:32894494 FBXO7 G>C	22	32894494	32894494	G	C	FBXO7	c.1546G>C	NM_012179.4	NP_036311.3:p.(Asp516His)	NC_000022.10:g.32894494G>C	VUS	2 labs	199b22fd6c
16:1657284 IFT140 C>G	16	1657284	1657284	C	G	IFT140	c.-17G>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1657284C>G	(Likely) benign	2 labs	199cb0e2a2
3:58107100 FLNB G>A	3	58107100	58107100	G	A	FLNB	c.2996G>A	NM_001164317.1	NP_001157789.1:p.(Arg999Gln)	NC_000003.11:g.58107100G>A	VUS	2 labs	19a317db95
7:5662506 RNF216 C>T	7	5662506	5662506	C	T	RNF216	c.2757G>A	NM_207111.3	NP_996994.1:p.(Pro919=)	NC_000007.13:g.5662506C>T	(Likely) benign	2 labs	19a69c5f6a
X:129149396 BCORL1 G>A	X	129149396	129149396	G	A	BCORL1	c.2648G>A	NM_021946.5	NP_068765.3:p.(Gly883Glu)	NC_000023.10:g.129149396G>A	(Likely) benign	2 labs	19ae7f4add
6:16327915 ATXN1 A>ATGC	6	16327915	16327955	A	ATGC	ATXN1	c.624_626dup	NM_000332.3	NP_000323.2:p.(Gln208dup)	NC_000006.11:g.16327953_16327955dup	(Likely) benign	3 labs	19a9b98f5b
3:133666107 SLCO2A1 G>A	3	133666107	133666107	G	A	SLCO2A1	c.1288C>T	NM_005630.2	NP_005621.2:p.(Pro430Ser)	NC_000003.11:g.133666107G>A	(Likely) benign	2 labs	19b7ed3a96
9:139403492 NOTCH1 C>T	9	139403492	139403492	C	T	NOTCH1	c.3001G>A	NM_017617.5	NP_060087.3:p.(Gly1001Ser)	NC_000009.11:g.139403492C>T	VUS	3 labs	19b4975b6b
6:66063513 EYS G>A	6	66063513	66063513	G	A	EYS	c.1300-3C>T	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.66063513G>A	(Likely) benign	3 labs	19bc16035f
10:95372734 PDE6C G>A	10	95372734	95372734	G	A	PDE6C	c.252G>A	NM_006204.4	NP_006195.3:p.(Leu84=)	NC_000010.10:g.95372734G>A	(Likely) benign	2 labs	e4364b5a0f
3:169099170 MECOM C>T	3	169099170	169099170	C	T	MECOM	c.180G>A	NM_004991.3	NP_004982.2:p.(Glu60=)	NC_000003.11:g.169099170C>T	(Likely) benign	2 labs	19bd2c6b30
X:153695996 PLXNA3 G>C	X	153695996	153695996	G	C	PLXNA3	c.3550G>C	NM_017514.4	NP_059984.3:p.(Asp1184His)	NC_000023.10:g.153695996G>C	VUS	2 labs	19c0f98ce5
12:112891083 PTPN11 G>T	12	112891083	112891083	G	T	PTPN11	c.417G>T	NM_002834.5	NP_002825.3:p.(Glu139Asp)	NC_000012.11:g.112891083G>T	(Likely) pathogenic	3 labs	e43e06620b
10:112404358 RBM20 A>C	10	112404358	112404358	A	C	RBM20	c.146A>C	NM_001134363.1	NP_001127835.1:p.(Gln49Pro)	NC_000010.10:g.112404358A>C	(Likely) benign	2 labs	19d17a755a
15:48703571 FBN1 C>G	15	48703571	48703571	C	G	FBN1	c.8232G>C	NM_000138.5	NP_000129.3:p.(Gln2744His)	NC_000015.9:g.48703571C>G	(Likely) benign	4 labs	19ceb32453
X:153296348 MECP2 T>C	X	153296348	153296348	T	C	MECP2	c.931A>G	NM_004992.3	NP_004983.1:p.(Thr311Ala)	NC_000023.10:g.153296348T>C	(Likely) benign	2 labs	19dfc74856
11:47236819 DDB2 T>G	11	47236819	47236819	T	G	DDB2	c.127+5T>G	NM_000107.3	NP_000098.1:p.?	NC_000011.9:g.47236819T>G	(Likely) benign	2 labs	19dd89a1d3
8:87755776 CNGB3 T>C	8	87755776	87755776	T	C	CNGB3	c.80A>G	NM_019098.4	NP_061971.3:p.(Asn27Ser)	NC_000008.10:g.87755776T>C	(Likely) benign	2 labs	19e3e6077b
22:36684328 MYH9 G>A	22	36684328	36684328	G	A	MYH9	c.4902C>T	NM_002473.5	NP_002464.1:p.(Asp1634=)	NC_000022.10:g.36684328G>A	(Likely) benign	2 labs	19e723eb44
2:179422218 TTN G>T	2	179422218	179422218	G	T	TTN	c.87771C>A	NM_001267550.2	NP_001254479.2:p.(Gly29257=)	NC_000002.11:g.179422218G>T	(Likely) benign	2 labs	19ebc343f9
18:13884865 MC2R G>GT	18	13884865	13884866	G	GT	MC2R	c.652_653insA	NM_001291911.1	NP_001278840.1:p.(Ala218AspfsTer31)	NC_000018.9:g.13884865_13884866insT	(Likely) pathogenic	2 labs	19f037b501
1:220375728 RAB3GAP2 A>G	1	220375728	220375728	A	G	RAB3GAP2	c.713-12T>C	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220375728A>G	(Likely) benign	2 labs	19f6ab6b05
6:137166790 PEX7 A>C	6	137166790	137166790	A	C	PEX7	c.377A>C	NM_000288.4	NP_000279.1:p.(Gln126Pro)	NC_000006.11:g.137166790A>C	(Likely) benign	4 labs	19ef5782fa
7:75614082 POR C>G	7	75614082	75614082	C	G	POR	c.1067-13C>G	NM_001382658.1	NP_001369587.1:p.?	NC_000007.13:g.75614082C>G	(Likely) benign	2 labs	e452b7574e
1:237920993 RYR2 T>C	1	237920993	237920993	T	C	RYR2	c.11246-4T>C	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237920993T>C	(Likely) benign	2 labs	19fd8e13a0
9:27018679 IFT74 A>G	9	27018679	27018679	A	G	IFT74	c.968A>G	NM_001099222.2	NP_001092692.1:p.(Glu323Gly)	NC_000009.11:g.27018679A>G	VUS	2 labs	19fe0b4334
1:227076569 PSEN2 C>G	1	227076569	227076569	C	G	PSEN2	c.606C>G	NM_000447.3	NP_000438.2:p.(Pro202=)	NC_000001.10:g.227076569C>G	(Likely) benign	2 labs	1a06806a77
4:6303892 WFS1 G>A	4	6303892	6303892	G	A	WFS1	c.2370G>A	NM_006005.3	NP_005996.2:p.(Ser790=)	NC_000004.11:g.6303892G>A	(Likely) benign	2 labs	1a064f223f
20:13782223 NDUFAF5 C>T	20	13782223	13782223	C	T	NDUFAF5	c.50C>T	NM_001352407.2	NP_001339336.1:p.(Ala17Val)	NC_000020.10:g.13782223C>T	VUS	2 labs	1a0aff2364
2:179578713 TTN T>C	2	179578713	179578713	T	C	TTN	c.26672A>G	NM_001267550.2	NP_001254479.2:p.(Asn8891Ser)	NC_000002.11:g.179578713T>C	(Likely) benign	4 labs	1a0f4c8746
14:23859425 MYH6 G>A	14	23859425	23859425	G	A	MYH6	c.3573C>T	NM_002471.4	NP_002462.2:p.(Ala1191=)	NC_000014.8:g.23859425G>A	(Likely) benign	3 labs	1a0cca49cb
18:21136322 NPC1 C>T	18	21136322	21136322	C	T	NPC1	c.1211G>A	NM_000271.4	NP_000262.2:p.(Arg404Gln)	NC_000018.9:g.21136322C>T	(Likely) pathogenic	2 labs	1a11aba048
5:67576748 PIK3R1 C>T	5	67576748	67576748	C	T	PIK3R1	c.837-7C>T	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67576748C>T	(Likely) benign	2 labs	1a16e83957
11:17417225 ABCC8 C>A	11	17417225	17417225	C	A	ABCC8	c.4305G>T	NM_001351295.1	NP_001338224.1:p.(Pro1435=)	NC_000011.9:g.17417225C>A	(Likely) benign	2 labs	1a1a99cb78
2:88874891 EIF2AK3 C>A	2	88874891	88874891	C	A	EIF2AK3	c.2110G>T	NM_004836.7	NP_004827.4:p.(Ala704Ser)	NC_000002.11:g.88874891C>A	(Likely) benign	3 labs	1a20226431
14:21854019 CHD8 T>G	14	21854019	21854019	T	G	CHD8	c.7499A>C	NM_001170629.1	NP_001164100.1:p.(His2500Pro)	NC_000014.8:g.21854019T>G	(Likely) benign	2 labs	1a2463f10f
16:1545347 TELO2 C>A	16	1545347	1545347	C	A	TELO2	c.336C>A	NM_016111.4	NP_057195.2:p.(Gly112=)	NC_000016.9:g.1545347C>A	(Likely) benign	2 labs	1a375fea09
6:31838580 SLC44A4 G>A	6	31838580	31838580	G	A	SLC44A4	c.709+9C>T	NM_001178045.1	NP_001171516.1:p.?	NC_000006.11:g.31838580G>A	(Likely) benign	2 labs	1a33abfe05
11:61160686 TMEM216 C>T	11	61160686	61160686	C	T	TMEM216	c.35-17C>T	NM_001173990.3	NP_001167461.1:p.?	NC_000011.9:g.61160686C>T	(Likely) benign	2 labs	1a2ef4452c
3:184039766 EIF4G1 AAGGAGAAGC>A	3	184039766	184039793	AAGGAGAAGC	A	EIF4G1	c.1413_1421del	NM_182917.4	NP_886553.3:p.(Gly472_Ala474del)	NC_000003.11:g.184039785_184039793del	(Likely) benign	2 labs	1a3c55833c
1:7724697 CAMTA1 C>T	1	7724697	7724697	C	T	CAMTA1	c.2090C>T	NM_015215.4	NP_056030.1:p.(Ala697Val)	NC_000001.10:g.7724697C>T	(Likely) benign	2 labs	1a4f4fab5f
X:21863451 MBTPS2 TTCA>T	X	21863451	21863456	TTCA	T	MBTPS2	c.390_392del	NM_015884.4	NP_056968.1:p.(Ser136del)	NC_000023.10:g.21863454_21863456del	(Likely) benign	2 labs	1a49c03e82
3:58109123 FLNB G>C	3	58109123	58109123	G	C	FLNB	c.3430G>C	NM_001164317.1	NP_001157789.1:p.(Glu1144Gln)	NC_000003.11:g.58109123G>C	(Likely) benign	2 labs	1a6712e234
5:89979925 ADGRV1 T>C	5	89979925	89979925	T	C	ADGRV1	c.6187T>C	NM_032119.4	NP_115495.3:p.(Leu2063=)	NC_000005.9:g.89979925T>C	(Likely) benign	2 labs	1a59f5aecf
2:135884166 RAB3GAP1 A>G	2	135884166	135884166	A	G	RAB3GAP1	c.913A>G	NM_001172435.1	NP_001165906.1:p.(Ile305Val)	NC_000002.11:g.135884166A>G	(Likely) benign	2 labs	1a692c29de
22:36682759 MYH9 C>T	22	36682759	36682759	C	T	MYH9	c.5061+5G>A	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36682759C>T	VUS	2 labs	1a69ee9ff1
4:515567 PIGG C>T	4	515567	515567	C	T	PIGG	c.353C>T	NM_001345994.1	NP_001332923.1:p.(Ser118Leu)	NC_000004.11:g.515567C>T	(Likely) benign	2 labs	1a70922be1
14:24709867 TINF2 G>A	14	24709867	24709867	G	A	TINF2	c.819C>T	NM_012461.2	NP_036593.2:p.(Ala273=)	NC_000014.8:g.24709867G>A	(Likely) benign	2 labs	1a75a296de
19:4818178 TICAM1 C>T	19	4818178	4818178	C	T	TICAM1	c.212G>A	NM_182919.3	NP_891549.1:p.(Arg71Gln)	NC_000019.9:g.4818178C>T	(Likely) benign	2 labs	1a7c31e686
14:81558965 TSHR A>G	14	81558965	81558965	A	G	TSHR	c.545+13A>G	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81558965A>G	(Likely) benign	2 labs	1a7151bbca
2:179560728 TTN G>A	2	179560728	179560728	G	A	TTN	c.31071C>T	NM_001267550.2	NP_001254479.2:p.(His10357=)	NC_000002.11:g.179560728G>A	(Likely) benign	4 labs	1a7b670bd0
1:39775303 MACF1 A>G	1	39775303	39775303	A	G	MACF1	c.2866A>G	NM_012090.5	NP_036222.3:p.(Ser956Gly)	NC_000001.10:g.39775303A>G	(Likely) benign	2 labs	1a81e67c57
5:112174096 APC C>A	5	112174096	112174096	C	A	APC	c.2805C>A	NM_000038.6	NP_000029.2:p.(Tyr935Ter)	NC_000005.9:g.112174096C>A	(Likely) pathogenic	3 labs	e4636b6805
14:91745643 CCDC88C C>T	14	91745643	91745643	C	T	CCDC88C	c.4707G>A	NM_001080414.3	NP_001073883.2:p.(Arg1569=)	NC_000014.8:g.91745643C>T	(Likely) benign	2 labs	1a82750130
2:179391899 TTN CTG>C	2	179391899	179391903	CTG	C	TTN	c.107814_107815del	NM_001267550.2	NP_001254479.2:p.(His35938GlnfsTer10)	NC_000002.11:g.179391902_179391903del	VUS	2 labs	1a94c6f409
2:179613837 TTN A>G	2	179613837	179613837	A	G	TTN	c.13290T>C	NM_133379.5	NP_596870.2:p.(Ser4430=)	NC_000002.11:g.179613837A>G	(Likely) benign	2 labs	e46f1ec63a
15:23892396 MAGEL2 G>A	15	23892396	23892396	G	A	MAGEL2	c.494C>T	NM_019066.5	NP_061939.3:p.(Pro165Leu)	NC_000015.9:g.23892396G>A	(Likely) benign	2 labs	1a9da39269
9:131370267 SPTAN1 C>G	9	131370267	131370267	C	G	SPTAN1	c.4283C>G	NM_001130438.3	NP_001123910.1:p.(Ala1428Gly)	NC_000009.11:g.131370267C>G	(Likely) benign	3 labs	e472abe638
11:6413290 SMPD1 C>G	11	6413290	6413290	C	G	SMPD1	c.34C>G	NM_001318088.1	NP_001305017.1:p.(Pro12Ala)	NC_000011.9:g.6413290C>G	(Likely) benign	2 labs	1aad04ef2c
5:11346632 CTNND2 C>T	5	11346632	11346632	C	T	CTNND2	c.1480G>A	NM_001332.4	NP_001323.1:p.(Gly494Ser)	NC_000005.9:g.11346632C>T	VUS	2 labs	1ab1fd81da
11:124757360 ROBO4 G>T	11	124757360	124757360	G	T	ROBO4	c.2092C>A	NM_019055.5	NP_061928.4:p.(Leu698Met)	NC_000011.9:g.124757360G>T	(Likely) benign	3 labs	1aadf8458c
X:53263463 IQSEC2 T>C	X	53263463	53263463	T	C	IQSEC2	c.4405A>G	NM_001111125.2	NP_001104595.1:p.(Thr1469Ala)	NC_000023.10:g.53263463T>C	(Likely) benign	2 labs	1ab171c437
8:133141822 KCNQ3 G>T	8	133141822	133141822	G	T	KCNQ3	c.2306C>A	NM_004519.3	NP_004510.1:p.(Pro769His)	NC_000008.10:g.133141822G>T	(Likely) benign	2 labs	1ab5331ba1
X:149765043 MTM1 C>T	X	149765043	149765043	C	T	MTM1	c.136+9C>T	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149765043C>T	(Likely) benign	3 labs	1ab8b1d48c
11:47368189 MYBPC3 GAA>G	11	47368189	47368192	GAA	G	MYBPC3	c.913_914del	NM_000256.3	NP_000247.2:p.(Phe305ProfsTer27)	NC_000011.9:g.47368191_47368192del	(Likely) pathogenic	2 labs	1ac10d599c
2:179642665 TTN G>A	2	179642665	179642665	G	A	TTN	c.4246C>T	NM_001267550.2	NP_001254479.2:p.(Arg1416Cys)	NC_000002.11:g.179642665G>A	(Likely) benign	4 labs	1ac0832932
8:100147838 VPS13B C>T	8	100147838	100147838	C	T	VPS13B	c.1440C>T	NM_017890.4	NP_060360.3:p.(Phe480=)	NC_000008.10:g.100147838C>T	(Likely) benign	2 labs	1ac1c56a15
3:48620046 COL7A1 G>A	3	48620046	48620046	G	A	COL7A1	c.4559C>T	NM_000094.4	NP_000085.1:p.(Pro1520Leu)	NC_000003.11:g.48620046G>A	VUS	2 labs	1ac5acc18a
16:56532346 BBS2 T>C	16	56532346	56532346	T	C	BBS2	c.1659+3A>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56532346T>C	(Likely) benign	3 labs	1ace299067
9:135801064 TSC1 CGA>C	9	135801064	135801069	CGA	C	TSC1	c.271_272del	NM_000368.5	NP_000359.1:p.(Ser91ValfsTer15)	NC_000009.11:g.135801068_135801069del	(Likely) pathogenic	2 labs	1ae0ec1c21
8:126087343 WASHC5 A>G	8	126087343	126087343	A	G	WASHC5	c.875T>C	NM_014846.3	NP_055661.3:p.(Ile292Thr)	NC_000008.10:g.126087343A>G	VUS	2 labs	1ae4f46030
10:21108410 NEBL C>T	10	21108410	21108410	C	T	NEBL	c.1998G>A	NM_006393.2	NP_006384.1:p.(Pro666=)	NC_000010.10:g.21108410C>T	(Likely) benign	2 labs	1ae5adeabc
11:118962816 HMBS C>A	11	118962816	118962816	C	A	HMBS	c.613-19C>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118962816C>A	(Likely) benign	3 labs	1ae8f66605
2:179473018 TTN A>G	2	179473018	179473018	A	G	TTN	c.52592T>C	NM_001267550.2	NP_001254479.2:p.(Val17531Ala)	NC_000002.11:g.179473018A>G	VUS	2 labs	1aeadd65cc
2:179393685 TTN T>G	2	179393685	179393685	T	G	TTN	c.106793A>C	NM_001267550.1	NP_001254479.1:p.(Gln35598Pro)	NC_000002.11:g.179393685T>G	VUS	2 labs	1aef2b181c
4:123140602 BLTP1 A>T	4	123140602	123140602	A	T	BLTP1	c.2355A>T	NM_015312.3	NP_056127.2:p.(Gly785=)	NC_000004.11:g.123140602A>T	(Likely) benign	2 labs	1af063a1fa
X:103040674 PLP1 A>G	X	103040674	103040674	A	G	PLP1	c.168A>G	NM_001128834.3	NP_001122306.1:p.(Gln56=)	NC_000023.10:g.103040674A>G	(Likely) benign	2 labs	1afc08767f
19:48639304 LIG1 C>T	19	48639304	48639304	C	T	LIG1	c.1410G>A	NM_000234.3	NP_000225.1:p.(Thr470=)	NC_000019.9:g.48639304C>T	(Likely) benign	2 labs	1b0450e447
6:158579334 SERAC1 G>A	6	158579334	158579334	G	A	SERAC1	c.62C>T	NM_032861.3	NP_116250.3:p.(Pro21Leu)	NC_000006.11:g.158579334G>A	(Likely) benign	2 labs	1b027d7ff6
2:1926437 MYT1L G>T	2	1926437	1926437	G	T	MYT1L	c.1104C>A	NM_015025.4	NP_055840.2:p.(Pro368=)	NC_000002.11:g.1926437G>T	(Likely) benign	2 labs	e479f5a08a
17:61558474 ACE G>A	17	61558474	61558474	G	A	ACE	c.870G>A	NM_000789.3	NP_000780.1:p.(Trp290Ter)	NC_000017.10:g.61558474G>A	(Likely) pathogenic	2 labs	1b0793ae35
19:45898938 PPP1R13L G>A	19	45898938	45898938	G	A	PPP1R13L	c.1110C>T	NM_006663.4	NP_006654.2:p.(Ile370=)	NC_000019.9:g.45898938G>A	(Likely) benign	2 labs	1b07d620dd
X:152990979 ABCD1 C>T	X	152990979	152990979	C	T	ABCD1	c.258C>T	NM_000033.3	NP_000024.2:p.(Val86=)	NC_000023.10:g.152990979C>T	(Likely) benign	2 labs	1b158a4758
1:94476951 ABCA4 A>G	1	94476951	94476951	A	G	ABCA4	c.5461-10T>C	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476951A>G	(Likely) pathogenic	3 labs	1b178e52f0
2:39249915 SOS1 T>C	2	39249915	39249915	T	C	SOS1	c.1654A>G	NM_005633.4	NP_005624.2:p.(Arg552Gly)	NC_000002.11:g.39249915T>C	(Likely) pathogenic	3 labs	e483b129cd
5:127685135 FBN2 C>T	5	127685135	127685135	C	T	FBN2	c.2893G>A	NM_001999.4	NP_001990.2:p.(Val965Ile)	NC_000005.9:g.127685135C>T	(Likely) benign	3 labs	e48f4a55b5
16:2159161 PKD1 C>T	16	2159161	2159161	C	T	PKD1	c.6007G>A	NM_001009944.2	NP_001009944.2:p.(Ala2003Thr)	NC_000016.9:g.2159161C>T	(Likely) benign	2 labs	1b2b156461
10:92680801 ANKRD1 T>C	10	92680801	92680801	T	C	ANKRD1	c.-17A>G	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680801T>C	(Likely) benign	3 labs	e48f711466
3:58148900 FLNB C>A	3	58148900	58148900	C	A	FLNB	c.7134C>A	NM_001164317.1	NP_001157789.1:p.(Phe2378Leu)	NC_000003.11:g.58148900C>A	(Likely) benign	2 labs	1b2d38d549
X:5821575 NLGN4X C>T	X	5821575	5821575	C	T	NLGN4X	c.1144G>A	NM_001282145.1	NP_001269074.1:p.(Gly382Ser)	NC_000023.10:g.5821575C>T	VUS	2 labs	1b2ec14eef
11:17618521 OTOG G>A	11	17618521	17618521	G	A	OTOG	c.3685G>A	NM_001277269.2	NP_001264198.1:p.(Val1229Met)	NC_000011.9:g.17618521G>A	VUS	2 labs	1b2ec98870
4:114278677 ANK2 T>C	4	114278677	114278677	T	C	ANK2	c.8903T>C	NM_001148.4	NP_001139.3:p.(Val2968Ala)	NC_000004.11:g.114278677T>C	(Likely) benign	2 labs	1b2eec6407
11:19207883 CSRP3 C>T	11	19207883	19207883	C	T	CSRP3	c.294G>A	NM_003476.5	NP_003467.1:p.(Pro98=)	NC_000011.9:g.19207883C>T	(Likely) benign	3 labs	1b3408196b
10:21097546 NEBL G>A	10	21097546	21097546	G	A	NEBL	c.2654C>T	NM_006393.2	NP_006384.1:p.(Ser885Phe)	NC_000010.10:g.21097546G>A	(Likely) benign	2 labs	1b38042e57
2:166901590 SCN1A C>T	2	166901590	166901590	C	T	SCN1A	c.1625G>A	NM_001202435.2	NP_001189364.1:p.(Arg542Gln)	NC_000002.11:g.166901590C>T	(Likely) benign	3 labs	1b383b51e6
5:1279430 TERT C>T	5	1279430	1279430	C	T	TERT	c.2106G>A	NM_198253.3	NP_937983.2:p.(Pro702=)	NC_000005.9:g.1279430C>T	(Likely) benign	5 labs	1b4c61e06c
5:169507262 DOCK2 C>T	5	169507262	169507262	C	T	DOCK2	c.5262C>T	NM_004946.3	NP_004937.1:p.(Ala1754=)	NC_000005.9:g.169507262C>T	(Likely) benign	2 labs	1b47ce57b4
6:33411166 SYNGAP1 G>A	6	33411166	33411166	G	A	SYNGAP1	c.2837G>A	NM_006772.3	NP_006763.2:p.(Gly946Glu)	NC_000006.11:g.33411166G>A	VUS	2 labs	1b436305e7
2:73675385 ALMS1 TA>T	2	73675385	73675386	TA	T	ALMS1	c.1735del	NM_015120.4	NP_055935.4:p.(Arg579GlyfsTer17)	NC_000002.11:g.73675386del	(Likely) pathogenic	4 labs	1b44df1f0c
6:7580386 DSP G>A	6	7580386	7580386	G	A	DSP	c.3963G>A	NM_004415.4	NP_004406.2:p.(Gln1321=)	NC_000006.11:g.7580386G>A	(Likely) benign	6 labs	e498924612
10:102770396 PDZD7 C>A	10	102770396	102770396	C	A	PDZD7	c.2250G>T	NM_001195263.2	NP_001182192.1:p.(Trp750Cys)	NC_000010.10:g.102770396C>A	VUS	2 labs	1b4d5793f3
2:179530429 TTN C>T	2	179530429	179530429	C	T	TTN	c.35959+6G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179530429C>T	(Likely) benign	3 labs	e4a13fd008
4:6290815 WFS1 C>G	4	6290815	6290815	C	G	WFS1	c.417C>G	NM_006005.3	NP_005996.2:p.(Arg139=)	NC_000004.11:g.6290815C>G	(Likely) benign	2 labs	1b6251fd47
X:153184386 ARHGAP4 G>A	X	153184386	153184386	G	A	ARHGAP4	c.1052C>T	NM_001164741.1	NP_001158213.1:p.(Ala351Val)	NC_000023.10:g.153184386G>A	(Likely) benign	2 labs	1b678eb57a
15:23892549 MAGEL2 G>A	15	23892549	23892549	G	A	MAGEL2	c.341C>T	NM_019066.4	NP_061939.3:p.(Pro114Leu)	NC_000015.9:g.23892549G>A	VUS	2 labs	1b6859467b
14:66975271 GPHN C>G	14	66975271	66975271	C	G	GPHN	c.26C>G	NM_020806.5	NP_065857.1:p.(Thr9Ser)	NC_000014.8:g.66975271C>G	(Likely) benign	4 labs	1b79734afb
18:28662899 DSC2 C>T	18	28662899	28662899	C	T	DSC2	c.1070G>A	NM_024422.4	NP_077740.1:p.(Arg357His)	NC_000018.9:g.28662899C>T	(Likely) benign	2 labs	1b74b75ad8
17:42429456 GRN G>A	17	42429456	42429456	G	A	GRN	c.1253G>A	NM_002087.2	NP_002078.1:p.(Arg418Gln)	NC_000017.10:g.42429456G>A	(Likely) benign	2 labs	1b7ac9bd88
1:94492973 ABCA4 G>A	1	94492973	94492973	G	A	ABCA4	c.4539+2028C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94492973G>A	(Likely) pathogenic	3 labs	1b7853248d
10:121429462 BAG3 A>T	10	121429462	121429462	A	T	BAG3	c.280A>T	NM_004281.4	NP_004272.2:p.(Ile94Phe)	NC_000010.10:g.121429462A>T	(Likely) benign	5 labs	e4a8ae87bd
12:6438963 TNFRSF1A G>C	12	6438963	6438963	G	C	TNFRSF1A	c.1038C>G	NM_001065.3	NP_001056.1:p.(His346Gln)	NC_000012.11:g.6438963G>C	(Likely) benign	2 labs	1b82960f77
9:77435340 TRPM6 C>A	9	77435340	77435340	C	A	TRPM6	c.1014G>T	NM_017662.4	NP_060132.3:p.(Met338Ile)	NC_000009.11:g.77435340C>A	(Likely) benign	2 labs	1b834dc88c
11:108170500 ATM C>T	11	108170500	108170500	C	T	ATM	c.5065C>T	NM_000051.4	NP_000042.3:p.(Gln1689Ter)	NC_000011.9:g.108170500C>T	(Likely) pathogenic	2 labs	e4ab8c733d
2:179449452 TTN C>T	2	179449452	179449452	C	T	TTN	c.64916G>A	NM_001267550.1	NP_001254479.1:p.(Arg21639Gln)	NC_000002.11:g.179449452C>T	VUS	2 labs	1b84a3a567
1:237837448 RYR2 G>A	1	237837448	237837448	G	A	RYR2	c.8643G>A	NM_001035.3	NP_001026.2:p.(Glu2881=)	NC_000001.10:g.237837448G>A	(Likely) benign	3 labs	1b863f537a
13:110859822 COL4A1 G>C	13	110859822	110859822	G	C	COL4A1	c.708C>G	NM_001845.5	NP_001836.3:p.(Val236=)	NC_000013.10:g.110859822G>C	(Likely) benign	3 labs	1b8a968092
11:76867721 MYO7A C>T	11	76867721	76867721	C	T	MYO7A	c.486C>T	NM_000260.4	NP_000251.3:p.(Ala162=)	NC_000011.9:g.76867721C>T	(Likely) benign	2 labs	1b855fc9d8
9:139391211 NOTCH1 C>T	9	139391211	139391211	C	T	NOTCH1	c.6980G>A	NM_017617.5	NP_060087.3:p.(Arg2327Gln)	NC_000009.11:g.139391211C>T	(Likely) benign	3 labs	1b872bf194
12:111885351 SH2B3 ATGGGG>A	12	111885351	111885376	ATGGGG	A	SH2B3	c.1236+24_1236+28del	NM_005475.3	NP_005466.1:p.?	NC_000012.11:g.111885372_111885376del	(Likely) benign	2 labs	1b8cbe2f3b
13:110959368 COL4A1 G>T	13	110959368	110959368	G	T	COL4A1	c.7C>A	NM_001845.5	NP_001836.3:p.(Pro3Thr)	NC_000013.10:g.110959368G>T	(Likely) benign	2 labs	1b9e368961
19:17948861 JAK3 C>T	19	17948861	17948861	C	T	JAK3	c.1581G>A	NM_000215.3	NP_000206.2:p.(Leu527=)	NC_000019.9:g.17948861C>T	(Likely) benign	2 labs	1b9ecff60f
X:152106693 ZNF185 G>C	X	152106693	152106693	G	C	ZNF185	c.1290G>C	NM_001178106.1	NP_001171577.1:p.(Lys430Asn)	NC_000023.10:g.152106693G>C	(Likely) benign	2 labs	1ba7a01fa9
16:81904486 PLCG2 C>G	16	81904486	81904486	C	G	PLCG2	c.594C>G	NM_002661.5	NP_002652.2:p.(Ser198Arg)	NC_000016.9:g.81904486C>G	VUS	3 labs	1bac58b53d
16:23634321 PALB2 CT>C	16	23634321	23634323	CT	C	PALB2	c.2964del	NM_024675.4	NP_078951.2:p.(Val989Ter)	NC_000016.9:g.23634323del	(Likely) pathogenic	2 labs	e4bb59d7b6
X:136648984 ZIC3 A>ACGC	X	136648984	136649011	A	ACGC	ZIC3	c.159_161dup	NM_003413.4	NP_003404.1:p.(Ala55dup)	NC_000023.10:g.136649009_136649011dup	(Likely) benign	4 labs	1bb4ebccbe
8:11607658 GATA4 C>T	8	11607658	11607658	C	T	GATA4	c.822C>T	NM_002052.5	NP_002043.2:p.(Cys274=)	NC_000008.10:g.11607658C>T	(Likely) benign	4 labs	1bb9a2bb47
2:135878489 RAB3GAP1 G>A	2	135878489	135878489	G	A	RAB3GAP1	c.748+1G>A	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135878489G>A	(Likely) pathogenic	2 labs	1bbd7db8a9
16:2158871 PKD1 C>A	16	2158871	2158871	C	A	PKD1	c.6297G>T	NM_001009944.2	NP_001009944.2:p.(Gly2099=)	NC_000016.9:g.2158871C>A	(Likely) benign	3 labs	1bc510a8d1
13:94482797 GPC6 A>G	13	94482797	94482797	A	G	GPC6	c.710A>G	NM_005708.4	NP_005699.1:p.(Lys237Arg)	NC_000013.10:g.94482797A>G	(Likely) benign	2 labs	1bccada201
1:92762982 GLMN A>C	1	92762982	92762982	A	C	GLMN	c.144T>G	NM_053274.2	NP_444504.1:p.(Ile48Met)	NC_000001.10:g.92762982A>C	(Likely) benign	2 labs	1bcecfe430
8:61765576 CHD7 C>T	8	61765576	61765576	C	T	CHD7				NC_000008.10:g.61765576C>T	(Likely) pathogenic	2 labs	1bdc7c0afc
1:201052312 CACNA1S A>C	1	201052312	201052312	A	C	CACNA1S	c.1371T>G	NM_000069.3	NP_000060.2:p.(Pro457=)	NC_000001.10:g.201052312A>C	(Likely) benign	2 labs	e4c4db0be6
11:126318946 KIRREL3 C>T	11	126318946	126318946	C	T	KIRREL3	c.955G>A	NM_032531.3	NP_115920.1:p.(Ala319Thr)	NC_000011.9:g.126318946C>T	VUS	2 labs	1bdedc6504
11:17544404 USH1C C>G	11	17544404	17544404	C	G	USH1C	c.946G>C	NM_153676.4	NP_710142.1:p.(Glu316Gln)	NC_000011.9:g.17544404C>G	(Likely) benign	2 labs	1bd6f1f2db
13:52524504 ATP7B G>A	13	52524504	52524504	G	A	ATP7B	c.2479C>T	NM_000053.4	NP_000044.2:p.(Arg827Trp)	NC_000013.10:g.52524504G>A	VUS	2 labs	e4c9b8c510
15:89402441 ACAN C>T	15	89402441	89402441	C	T	ACAN	c.6625C>T	NM_013227.3	NP_037359.3:p.(Leu2209=)	NC_000015.9:g.89402441C>T	(Likely) benign	2 labs	1beea825b1
6:152722482 SYNE1 T>C	6	152722482	152722482	T	C	SYNE1	c.6826-6A>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152722482T>C	(Likely) benign	2 labs	1bf3fd6efe
19:18172004 IL12RB1 G>A	19	18172004	18172004	G	A	IL12RB1	c.1839C>T	NM_001290024.1	NP_001276953.1:p.(Ala613=)	NC_000019.9:g.18172004G>A	(Likely) benign	2 labs	1bf54f2d25
2:47693795 MSH2 A>G	2	47693795	47693795	A	G	MSH2	c.1511-2A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47693795A>G	(Likely) pathogenic	2 labs	1bfd8db6bf
17:41243948 BRCA1 C>G	17	41243948	41243948	C	G	BRCA1	c.3600G>C	NM_007294.4	NP_009225.1:p.(Gln1200His)	NC_000017.10:g.41243948C>G	(Likely) benign	2 labs	1bffded28a
4:39271653 WDR19 A>G	4	39271653	39271653	A	G	WDR19	c.3416A>G	NM_025132.4	NP_079408.3:p.(Gln1139Arg)	NC_000004.11:g.39271653A>G	(Likely) benign	3 labs	1c0e85dd64
15:89398769 ACAN A>G	15	89398769	89398769	A	G	ACAN	c.2953A>G	NM_013227.3	NP_037359.3:p.(Thr985Ala)	NC_000015.9:g.89398769A>G	(Likely) benign	2 labs	1c0ebabb45
10:16882375 CUBN G>A	10	16882375	16882375	G	A	CUBN	c.9986C>T	NM_001081.3	NP_001072.2:p.(Ser3329Leu)	NC_000010.10:g.16882375G>A	(Likely) benign	2 labs	1c0f2b4d96
16:51175324 SALL1 G>A	16	51175324	51175324	G	A	SALL1	c.809C>T	NM_002968.2	NP_002959.2:p.(Pro270Leu)	NC_000016.9:g.51175324G>A	(Likely) benign	2 labs	1c145e4e54
17:8131647 CTC1 G>A	17	8131647	8131647	G	A	CTC1	c.3515-10C>T	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8131647G>A	(Likely) benign	2 labs	1c189f15df
8:42173806 IKBKB G>A	8	42173806	42173806	G	A	IKBKB	c.702G>A	NM_001242778.1	NP_001229707.1:p.(Thr234=)	NC_000008.10:g.42173806G>A	(Likely) benign	2 labs	1c19f4489d
14:23883310 MYH7 G>A	14	23883310	23883310	G	A	MYH7	c.5561C>T	NM_000257.2	NP_000248.2:p.(Thr1854Met)	NC_000014.8:g.23883310G>A	VUS	2 labs	1c1b0e4c75
15:74481553 STRA6 C>T	15	74481553	74481553	C	T	STRA6	c.1110G>A	NM_001199042.1	NP_001185971.1:p.(Thr370=)	NC_000015.9:g.74481553C>T	(Likely) benign	3 labs	1c1e00fb68
2:48030557 MSH6 A>C	2	48030557	48030557	A	C	MSH6	c.3173-2A>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48030557A>C	(Likely) pathogenic	2 labs	1c21cf6fbf
X:153296347 MECP2 G>A	X	153296347	153296347	G	A	MECP2	c.932C>T	NM_004992.3	NP_004983.1:p.(Thr311Met)	NC_000023.10:g.153296347G>A	(Likely) benign	3 labs	1c2dcb3544
11:31822411 PAX6 A>G	11	31822411	31822411	A	G	PAX6	c.-51-7T>C	NM_001310160.1	NP_001297089.1:p.?	NC_000011.9:g.31822411A>G	(Likely) benign	2 labs	1c30ab7c66
20:50408377 SALL4 G>C	20	50408377	50408377	G	C	SALL4	c.645C>G	NM_020436.3	NP_065169.1:p.(Leu215=)	NC_000020.10:g.50408377G>C	(Likely) benign	2 labs	1c3195d317
10:50732317 ERCC6 C>T	10	50732317	50732317	C	T	ERCC6	c.1159G>A	NM_000124.4	NP_000115.1:p.(Glu387Lys)	NC_000010.10:g.50732317C>T	VUS	2 labs	1c39162833
17:78086765 GAA G>A	17	78086765	78086765	G	A	GAA	c.1979G>A	NM_000152.3	NP_000143.2:p.(Arg660His)	NC_000017.10:g.78086765G>A	(Likely) pathogenic	2 labs	1c3538e882
8:10467606 RP1L1 C>T	8	10467606	10467606	C	T	RP1L1	c.4002G>A	NM_178857.6	NP_849188.4:p.(Glu1334=)	NC_000008.10:g.10467606C>T	(Likely) benign	2 labs	1c38dd02d1
19:11217344 LDLR T>A	19	11217344	11217344	T	A	LDLR	c.798T>A	NM_000527.5	NP_000518.1:p.(Asp266Glu)	NC_000019.9:g.11217344T>A	(Likely) pathogenic	2 labs	e4d57e7d2b
1:235875448 LYST A>G	1	235875448	235875448	A	G	LYST	c.9834T>C	NM_001301365.1	NP_001288294.1:p.(Thr3278=)	NC_000001.10:g.235875448A>G	(Likely) benign	2 labs	1c58b77c54
3:159995356 IFT80 A>G	3	159995356	159995356	A	G	IFT80	c.1926+13T>C	NM_020800.2	NP_065851.1:p.?	NC_000003.11:g.159995356A>G	(Likely) benign	2 labs	1c603bf1bc
17:29527531 NF1 T>A	17	29527531	29527531	T	A	NF1	c.980T>A	NM_000267.3	NP_000258.1:p.(Leu327Gln)	NC_000017.10:g.29527531T>A	VUS	2 labs	1c6874d117
6:31937417 SKIC2 G>A	6	31937417	31937417	G	A	SKIC2	c.3666G>A	NM_006929.4	NP_008860.4:p.(Leu1222=)	NC_000006.11:g.31937417G>A	(Likely) benign	2 labs	1c68eeac73
3:4878595 ITPR1 C>A	3	4878595	4878595	C	A	ITPR1	c.8121C>A	NM_001168272.2	NP_001161744.1:p.(Gly2707=)	NC_000003.11:g.4878595C>A	(Likely) benign	2 labs	1c6a80aa5c
5:112179048 APC G>A	5	112179048	112179048	G	A	APC				NC_000005.9:g.112179048G>A	VUS	2 labs	1c758b2bec
4:151392821 LRBA C>T	4	151392821	151392821	C	T	LRBA	c.6622G>A	NM_001199282.2	NP_001186211.2:p.(Glu2208Lys)	NC_000004.11:g.151392821C>T	VUS	2 labs	e4d8918062
4:110663738 CFI G>A	4	110663738	110663738	G	A	CFI	c.1467C>T	NM_001318057.1	NP_001304986.1:p.(Val489=)	NC_000004.11:g.110663738G>A	(Likely) benign	3 labs	1c78190aa5
1:216371793 USH2A A>G	1	216371793	216371793	A	G	USH2A	c.3945T>C	NM_206933.2	NP_996816.2:p.(Asn1315=)	NC_000001.10:g.216371793A>G	(Likely) benign	2 labs	1c782d6cc6
7:151945071 KMT2C G>GT	7	151945071	151945072	G	GT	KMT2C	c.2447dup	NM_170606.2	NP_733751.2:p.(Tyr816Ter)	NC_000007.13:g.151945072dup	(Likely) benign	2 labs	1c793076a8
22:23915745 IGLL1 G>A	22	23915745	23915745	G	A	IGLL1				NC_000022.10:g.23915745G>A	VUS	2 labs	1c7d02c768
11:108141955 ATM C>A	11	108141955	108141955	C	A	ATM	c.2922-23C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108141955C>A	(Likely) benign	2 labs	1c84e9e325
8:90965508 NBN G>T	8	90965508	90965508	G	T	NBN	c.1563C>A	NM_001024688.2	NP_001019859.1:p.(Phe521Leu)	NC_000008.10:g.90965508G>T	(Likely) benign	2 labs	1c8556a4c6
1:205156631 DSTYK T>G	1	205156631	205156631	T	G	DSTYK	c.569A>C	NM_015375.2	NP_056190.1:p.(Glu190Ala)	NC_000001.10:g.205156631T>G	VUS	2 labs	1c87825bf2
22:21106047 PI4KA C>G	22	21106047	21106047	C	G	PI4KA	c.2988-4G>C	NM_058004.3	NP_477352.3:p.?	NC_000022.10:g.21106047C>G	(Likely) benign	2 labs	1c8accf8b1
2:170003432 LRP2 T>G	2	170003432	170003432	T	G	LRP2	c.12628A>C	NM_004525.3	NP_004516.2:p.(Ile4210Leu)	NC_000002.11:g.170003432T>G	(Likely) benign	2 labs	e4dd884086
7:146741075 CNTNAP2 G>A	7	146741075	146741075	G	A	CNTNAP2	c.479G>A	NM_014141.5	NP_054860.1:p.(Arg160His)	NC_000007.13:g.146741075G>A	VUS	2 labs	1c8dd9e413
21:45194586 CSTB C>T	21	45194586	45194586	C	T	CSTB	c.121G>A	NM_000100.3	NP_000091.1:p.(Val41Met)	NC_000021.8:g.45194586C>T	(Likely) benign	2 labs	1c91d5784d
2:179438859 TTN G>A	2	179438859	179438859	G	A	TTN	c.72000C>T	NM_001267550.2	NP_001254479.2:p.(Ile24000=)	NC_000002.11:g.179438859G>A	(Likely) benign	2 labs	e4dded3528
15:48717607 FBN1 G>C	15	48717607	48717607	G	C	FBN1	c.7412C>G	NM_000138.5	NP_000129.3:p.(Pro2471Arg)	NC_000015.9:g.48717607G>C	VUS	5 labs	1c9c9650cb
4:79322007 FRAS1 C>T	4	79322007	79322007	C	T	FRAS1	c.4095C>T	NM_025074.7	NP_079350.5:p.(Ile1365=)	NC_000004.11:g.79322007C>T	(Likely) benign	2 labs	1c9e8c3432
1:247588134 NLRP3 C>T	1	247588134	247588134	C	T	NLRP3	c.1383C>T	NM_001243133.1	NP_001230062.1:p.(Cys461=)	NC_000001.10:g.247588134C>T	(Likely) benign	2 labs	1ca6456d9f
6:152746593 SYNE1 A>T	6	152746593	152746593	A	T	SYNE1	c.5190T>A	NM_182961.4	NP_892006.3:p.(Asp1730Glu)	NC_000006.11:g.152746593A>T	(Likely) benign	3 labs	1ca2387a2c
15:44941108 SPG11 G>A	15	44941108	44941108	G	A	SPG11	c.1558C>T	NM_025137.4	NP_079413.3:p.(Leu520Phe)	NC_000015.9:g.44941108G>A	VUS	2 labs	1cbba24015
3:38601665 SCN5A C>T	3	38601665	38601665	C	T	SCN5A	c.4218G>A	NM_001099404.2	NP_001092874.1:p.(Gly1406=)	NC_000003.11:g.38601665C>T	(Likely) benign	6 labs	e4ed224ad6
1:6511981 ESPN A>G	1	6511981	6511981	A	G	ESPN	c.2150A>G	NM_031475.3	NP_113663.2:p.(Asn717Ser)	NC_000001.10:g.6511981A>G	VUS	2 labs	1cc6e5bcde
5:82815368 VCAN A>G	5	82815368	82815368	A	G	VCAN	c.1243A>G	NM_004385.5	NP_004376.2:p.(Ile415Val)	NC_000005.9:g.82815368A>G	(Likely) benign	2 labs	1cc1cb58ff
13:32907504 BRCA2 C>T	13	32907504	32907504	C	T	BRCA2	c.1889C>T	NM_000059.4	NP_000050.3:p.(Thr630Ile)	NC_000013.10:g.32907504C>T	(Likely) benign	4 labs	1cc5947e3b
7:75684236 MDH2 G>GC	7	75684236	75684238	G	GC	MDH2	c.157dup	NM_005918.3	NP_005909.2:p.(Leu53ProfsTer5)	NC_000007.13:g.75684238dup	VUS	2 labs	1ccff8f9a2
1:11854755 MTHFR G>A	1	11854755	11854755	G	A	MTHFR	c.1289+31C>T	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11854755G>A	(Likely) benign	2 labs	1cd03aea31
15:71507445 THSD4 C>T	15	71507445	71507445	C	T	THSD4	c.171C>T	NM_024817.2	NP_079093.2:p.(Gly57=)	NC_000015.9:g.71507445C>T	(Likely) benign	2 labs	e4f05c01ff
X:69366536 IGBP1 T>C	X	69366536	69366536	T	C	IGBP1	c.536T>C	NM_001551.2	NP_001542.1:p.(Val179Ala)	NC_000023.10:g.69366536T>C	(Likely) benign	2 labs	1cd5d8e7f8
13:32915313 BRCA2 G>T	13	32915313	32915313	G	T	BRCA2	c.6821G>T	NM_000059.4	NP_000050.3:p.(Gly2274Val)	NC_000013.10:g.32915313G>T	(Likely) benign	5 labs	1cd4647c91
16:27715233 KATNIP C>T	16	27715233	27715233	C	T	KATNIP	c.1303C>T	NM_015202.3	NP_056017.3:p.(Leu435=)	NC_000016.9:g.27715233C>T	(Likely) benign	2 labs	1cdb57ff76
X:63412377 AMER1 C>T	X	63412377	63412377	C	T	AMER1	c.790G>A	NM_152424.4	NP_689637.3:p.(Ala264Thr)	NC_000023.10:g.63412377C>T	(Likely) benign	3 labs	1ce19fd9ba
5:13900345 DNAH5 A>G	5	13900345	13900345	A	G	DNAH5	c.2229T>C	NM_001369.3	NP_001360.1:p.(Asp743=)	NC_000005.9:g.13900345A>G	(Likely) benign	2 labs	1ce32f6796
10:101544490 ABCC2 A>G	10	101544490	101544490	A	G	ABCC2	c.159A>G	NM_000392.5	NP_000383.2:p.(Lys53=)	NC_000010.10:g.101544490A>G	(Likely) benign	2 labs	1ce8eb503d
17:8134757 CTC1 A>G	17	8134757	8134757	A	G	CTC1	c.2506T>C	NM_025099.6	NP_079375.3:p.(Ser836Pro)	NC_000017.10:g.8134757A>G	VUS	2 labs	1ceee9a120
6:138196957 TNFAIP3 A>C	6	138196957	138196957	A	C	TNFAIP3	c.619A>C	NM_001270508.2	NP_001257437.1:p.(Ile207Leu)	NC_000006.11:g.138196957A>C	(Likely) benign	2 labs	1cf2198fa4
7:107301201 SLC26A4 T>C	7	107301201	107301201	T	C	SLC26A4	c.-103T>C	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107301201T>C	VUS	2 labs	1cf791eac1
18:28648894 DSC2 T>C	18	28648894	28648894	T	C	DSC2	c.2474A>G	NM_024422.4	NP_077740.1:p.(Glu825Gly)	NC_000018.9:g.28648894T>C	VUS	2 labs	1cff301add
1:26392785 TRIM63 G>A	1	26392785	26392785	G	A	TRIM63	c.306C>T	NM_032588.4	NP_115977.2:p.(Ile102=)	NC_000001.10:g.26392785G>A	(Likely) benign	3 labs	1cf70467a3
19:48807039 ODAD1 C>T	19	48807039	48807039	C	T	ODAD1	c.745G>A	NM_144577.4	NP_653178.3:p.(Gly249Arg)	NC_000019.9:g.48807039C>T	(Likely) benign	3 labs	1d01696da2
6:117248343 RFX6 C>A	6	117248343	117248343	C	A	RFX6	c.2039C>A	NM_173560.3	NP_775831.2:p.(Thr680Lys)	NC_000006.11:g.117248343C>A	(Likely) benign	2 labs	1d024029b4
15:100516333 ADAMTS17 G>A	15	100516333	100516333	G	A	ADAMTS17	c.3044C>T	NM_139057.3	NP_620688.2:p.(Ser1015Leu)	NC_000015.9:g.100516333G>A	(Likely) benign	2 labs	1d0353f390
13:32906729 BRCA2 A>C	13	32906729	32906729	A	C	BRCA2	c.1114A>C	NM_000059.4	NP_000050.3:p.(Asn372His)	NC_000013.10:g.32906729A>C	(Likely) benign	6 labs	1d06691f81
X:149681090 MAMLD1 A>C	X	149681090	149681090	A	C	MAMLD1	c.2744A>C	NM_001177465.3	NP_001170936.1:p.(Asp915Ala)	NC_000023.10:g.149681090A>C	(Likely) benign	2 labs	1d0fca7149
1:2338331 PEX10 G>T	1	2338331	2338331	G	T	PEX10	c.664C>A	NM_153818.1	NP_722540.1:p.(Arg222Ser)	NC_000001.10:g.2338331G>T	VUS	2 labs	1d1b4c8d46
3:15677121 BTD C>T	3	15677121	15677121	C	T	BTD	c.235C>T	NM_000060.4	NP_000051.1:p.(Arg79Cys)	NC_000003.11:g.15677121C>T	(Likely) pathogenic	2 labs	1d2798caa8
9:135781044 TSC1 G>A	9	135781044	135781044	G	A	TSC1	c.1921C>T	NM_000368.4	NP_000359.1:p.(Pro641Ser)	NC_000009.11:g.135781044G>A	(Likely) benign	2 labs	1d282406aa
1:161476227 FCGR2A C>T	1	161476227	161476227	C	T	FCGR2A	c.210C>T	NM_001136219.1	NP_001129691.1:p.(Ser70=)	NC_000001.10:g.161476227C>T	(Likely) benign	2 labs	1d2ae9abf5
2:48915871 LHCGR A>G	2	48915871	48915871	A	G	LHCGR	c.1065T>C	NM_000233.4	NP_000224.2:p.(Asp355=)	NC_000002.11:g.48915871A>G	(Likely) benign	2 labs	1d32d4aad2
2:231042380 SP110 G>A	2	231042380	231042380	G	A	SP110	c.1464C>T	NM_080424.2	NP_536349.2:p.(Cys488=)	NC_000002.11:g.231042380G>A	(Likely) benign	2 labs	1d3604875d
1:220330672 RAB3GAP2 C>T	1	220330672	220330672	C	T	RAB3GAP2	c.3495G>A	NM_012414.3	NP_036546.2:p.(Leu1165=)	NC_000001.10:g.220330672C>T	(Likely) benign	2 labs	1d36eb434b
16:28499964 CLN3 G>A	16	28499964	28499964	G	A	CLN3	c.242C>T	NM_001042432.2	NP_001035897.1:p.(Pro81Leu)	NC_000016.9:g.28499964G>A	VUS	2 labs	1d3e382610
6:31918500 CFB G>A	6	31918500	31918500	G	A	CFB	c.1729G>A	NM_001710.5	NP_001701.2:p.(Val577Ile)	NC_000006.11:g.31918500G>A	VUS	2 labs	1d4c69486e
20:62324310 RTEL1 C>T	20	62324310	62324310	C	T	RTEL1	c.2805C>T	NM_001283009.1	NP_001269938.1:p.(Leu935=)	NC_000020.10:g.62324310C>T	(Likely) benign	2 labs	1d4f56e19e
3:58109426 FLNB C>A	3	58109426	58109426	C	A	FLNB	c.3724+9C>A	NM_001164317.1	NP_001157789.1:p.?	NC_000003.11:g.58109426C>A	(Likely) benign	2 labs	1d55ae97c0
5:176675204 NSD1 C>T	5	176675204	176675204	C	T	NSD1	c.4520C>T	NM_022455.4	NP_071900.2:p.(Thr1507Met)	NC_000005.9:g.176675204C>T	(Likely) benign	2 labs	1d5a97a7f7
2:215875075 ABCA12 T>C	2	215875075	215875075	T	C	ABCA12	c.2452A>G	NM_173076.2	NP_775099.2:p.(Thr818Ala)	NC_000002.11:g.215875075T>C	VUS	2 labs	1d6bce0f03
2:98986540 CNGA3 G>A	2	98986540	98986540	G	A	CNGA3	c.101+1G>A	NM_001298.2	NP_001289.1:p.?	NC_000002.11:g.98986540G>A	(Likely) pathogenic	2 labs	1d6bf9ffa0
2:21231877 APOB T>G	2	21231877	21231877	T	G	APOB	c.7863A>C	NM_000384.3	NP_000375.3:p.(Leu2621=)	NC_000002.11:g.21231877T>G	(Likely) benign	2 labs	e50506f69d
12:32994074 PKP2 T>C	12	32994074	32994074	T	C	PKP2	c.1576A>G	NM_004572.3	NP_004563.2:p.(Thr526Ala)	NC_000012.11:g.32994074T>C	(Likely) benign	2 labs	1d76926289
1:179530462 NPHS2 C>T	1	179530462	179530462	C	T	NPHS2	c.413G>A	NM_014625.3	NP_055440.1:p.(Arg138Gln)	NC_000001.10:g.179530462C>T	(Likely) pathogenic	4 labs	1d76bf4479
2:179585824 TTN G>A	2	179585824	179585824	G	A	TTN	c.22922C>T	NM_001267550.2	NP_001254479.2:p.(Ser7641Leu)	NC_000002.11:g.179585824G>A	VUS	3 labs	1d75989cb1
10:100189238 HPS1 A>G	10	100189238	100189238	A	G	HPS1	c.911T>C	NM_001322490.1	NP_001309419.1:p.(Val304Ala)	NC_000010.10:g.100189238A>G	VUS	2 labs	1d778ec132
22:36681327 MYH9 T>C	22	36681327	36681327	T	C	MYH9	c.5323A>G	NM_002473.5	NP_002464.1:p.(Lys1775Glu)	NC_000022.10:g.36681327T>C	(Likely) benign	3 labs	1d77e9c461
9:6556307 GLDC G>C	9	6556307	6556307	G	C	GLDC	c.2053-5C>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6556307G>C	(Likely) benign	2 labs	1d78e9f9d8
11:61724853 BEST1 C>T	11	61724853	61724853	C	T	BEST1	c.-539-6C>T	NM_001363593.2	NP_001350522.1:p.?	NC_000011.9:g.61724853C>T	(Likely) benign	3 labs	1d79d612b6
17:41244945 BRCA1 G>C	17	41244945	41244945	G	C	BRCA1	c.2603C>G	NM_007294.4	NP_009225.1:p.(Ser868Ter)	NC_000017.10:g.41244945G>C	(Likely) pathogenic	2 labs	e511cd8070
7:80302686 CD36 G>A	7	80302686	80302686	G	A	CD36	c.1215G>A	NM_001001548.2	NP_001001548.1:p.(Leu405=)	NC_000007.13:g.80302686G>A	(Likely) benign	2 labs	1d9e8b9b01
1:173802511 DARS2 T>C	1	173802511	173802511	T	C	DARS2	c.493-3T>C	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173802511T>C	(Likely) benign	2 labs	1da0c619a7
17:8137796 CTC1 G>A	17	8137796	8137796	G	A	CTC1	c.1795C>T	NM_025099.6	NP_079375.3:p.(Pro599Ser)	NC_000017.10:g.8137796G>A	(Likely) benign	2 labs	1d947d27b7
2:179587656 TTN A>C	2	179587656	179587656	A	C	TTN	c.21970T>G	NM_001267550.2	NP_001254479.2:p.(Tyr7324Asp)	NC_000002.11:g.179587656A>C	VUS	4 labs	1da4049a90
5:74698788 CERT1 T>C	5	74698788	74698788	T	C	CERT1	c.1401+9A>G	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74698788T>C	(Likely) benign	2 labs	1da4348273
8:108296964 ANGPT1 C>T	8	108296964	108296964	C	T	ANGPT1	c.1151G>A	NM_001146.4	NP_001137.2:p.(Arg384Gln)	NC_000008.10:g.108296964C>T	(Likely) benign	2 labs	1da596a582
5:39306790 C9 C>T	5	39306790	39306790	C	T	C9	c.1345G>A	NM_001737.3	NP_001728.1:p.(Val449Met)	NC_000005.9:g.39306790C>T	(Likely) benign	2 labs	1da5f26ae5
9:139391636 NOTCH1 G>A	9	139391636	139391636	G	A	NOTCH1	c.6555C>T	NM_017617.5	NP_060087.3:p.(Asp2185=)	NC_000009.11:g.139391636G>A	(Likely) benign	3 labs	e515601e7e
2:73680942 ALMS1 A>C	2	73680942	73680942	A	C	ALMS1	c.7291A>C	NM_015120.4	NP_055935.4:p.(Ser2431Arg)	NC_000002.11:g.73680942A>C	VUS	2 labs	1db1ba106c
7:154429560 DPP6 C>T	7	154429560	154429560	C	T	DPP6	c.465C>T	NM_001039350.3	NP_001034439.1:p.(Tyr155=)	NC_000007.13:g.154429560C>T	(Likely) benign	3 labs	e51956e275
5:112179179 APC G>A	5	112179179	112179179	G	A	APC				NC_000005.9:g.112179179G>A	(Likely) benign	2 labs	1db613f040
14:23876347 MYH6 C>T	14	23876347	23876347	C	T	MYH6	c.86G>A	NM_002471.4	NP_002462.2:p.(Arg29Gln)	NC_000014.8:g.23876347C>T	(Likely) benign	4 labs	e519e232eb
10:81318677 SFTPA2 C>T	10	81318677	81318677	C	T	SFTPA2	c.287G>A	NM_001320814.1	NP_001307743.1:p.(Gly96Glu)	NC_000010.10:g.81318677C>T	VUS	2 labs	1db91202ca
16:2137858 TSC2 G>A	16	2137858	2137858	G	A	TSC2	c.4990-6G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137858G>A	VUS	2 labs	1db9f53cfd
1:156084780 LMNA C>T	1	156084780	156084780	C	T	LMNA	c.71C>T	NM_170707.4	NP_733821.1:p.(Thr24Ile)	NC_000001.10:g.156084780C>T	VUS	2 labs	e51a8241e2
3:48610145 COL7A1 C>T	3	48610145	48610145	C	T	COL7A1	c.6859G>A	NM_000094.3	NP_000085.1:p.(Gly2287Arg)	NC_000003.11:g.48610145C>T	(Likely) pathogenic	2 labs	e51beef0c4
9:2718051 KCNV2 T>C	9	2718051	2718051	T	C	KCNV2	c.312T>C	NM_133497.4	NP_598004.1:p.(Gly104=)	NC_000009.11:g.2718051T>C	(Likely) benign	2 labs	1dbe94129e
4:158073881 GLRB G>T	4	158073881	158073881	G	T	GLRB	c.916G>T	NM_000824.4	NP_000815.1:p.(Val306Phe)	NC_000004.11:g.158073881G>T	VUS	2 labs	1dc04e63e5
5:160753375 GABRB2 C>T	5	160753375	160753375	C	T	GABRB2	c.1191G>A	NM_021911.2	NP_068711.1:p.(Thr397=)	NC_000005.9:g.160753375C>T	VUS	2 labs	1dc0c9305b
X:46737005 RP2 G>A	X	46737005	46737005	G	A	RP2	c.949G>A	NM_006915.2	NP_008846.2:p.(Glu317Lys)	NC_000023.10:g.46737005G>A	(Likely) benign	2 labs	1dc17c3f7b
12:88524191 CEP290 G>T	12	88524191	88524191	G	T	CEP290	c.523C>A	NM_025114.3	NP_079390.3:p.(Gln175Lys)	NC_000012.11:g.88524191G>T	VUS	2 labs	1dc1d933ee
9:138669210 KCNT1 C>T	9	138669210	138669210	C	T	KCNT1	c.2376C>T	NM_020822.2	NP_065873.2:p.(Asp792=)	NC_000009.11:g.138669210C>T	(Likely) benign	2 labs	1dcb4b9cc8
20:31372648 DNMT3B C>T	20	31372648	31372648	C	T	DNMT3B	c.289C>T	NM_006892.3	NP_008823.1:p.(Arg97Cys)	NC_000020.10:g.31372648C>T	VUS	2 labs	1dccffe6ca
18:29116338 DSG2 G>A	18	29116338	29116338	G	A	DSG2	c.1597G>A	NM_001943.3	NP_001934.2:p.(Val533Ile)	NC_000018.9:g.29116338G>A	(Likely) benign	3 labs	1dce5c47be
11:47369209 MYBPC3 G>A	11	47369209	47369209	G	A	MYBPC3	c.844C>T	NM_000256.3	NP_000247.2:p.(Arg282Trp)	NC_000011.9:g.47369209G>A	VUS	2 labs	e524a206ec
17:79495707 FSCN2 C>G	17	79495707	79495707	C	G	FSCN2	c.150C>G	NM_001077182.3	NP_001070650.1:p.(Pro50=)	NC_000017.10:g.79495707C>G	(Likely) benign	2 labs	1ddb105c10
3:121500699 IQCB1 C>T	3	121500699	121500699	C	T	IQCB1	c.1301G>A	NM_001023570.3	NP_001018864.2:p.(Cys434Tyr)	NC_000003.11:g.121500699C>T	(Likely) benign	2 labs	1de73c32ad
2:179500806 TTN A>G	2	179500806	179500806	A	G	TTN	c.41492T>C	NM_001267550.2	NP_001254479.2:p.(Ile13831Thr)	NC_000002.11:g.179500806A>G	VUS	2 labs	e52650b68a
2:179634667 TTN C>G	2	179634667	179634667	C	G	TTN	c.8642-1G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634667C>G	VUS	2 labs	e52794ce1a
2:110920729 NPHP1 C>T	2	110920729	110920729	C	T	NPHP1	c.940-17G>A	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110920729C>T	(Likely) benign	2 labs	1df751eea1
22:37469591 TMPRSS6 G>A	22	37469591	37469591	G	A	TMPRSS6	c.1536C>T	NM_153609.4	NP_705837.2:p.(Asp512=)	NC_000022.10:g.37469591G>A	(Likely) benign	2 labs	e52d25a63c
14:73678538 PSEN1 A>G	14	73678538	73678538	A	G	PSEN1	c.1017A>G	NM_000021.4	NP_000012.1:p.(Glu339=)	NC_000014.8:g.73678538A>G	(Likely) benign	2 labs	1dfd913b28
X:7243422 STS G>C	X	7243422	7243422	G	C	STS	c.1160G>C	NM_001320750.1	NP_001307679.1:p.(Gly387Ala)	NC_000023.10:g.7243422G>C	(Likely) benign	2 labs	1e05728518
2:152459116 NEB G>A	2	152459116	152459116	G	A	NEB	c.13353C>T	NM_001271208.2	NP_001258137.2:p.(Ala4451=)	NC_000002.11:g.152459116G>A	(Likely) benign	4 labs	1dff329179
17:59853875 BRIP1 C>T	17	59853875	59853875	C	T	BRIP1	c.1984G>A	NM_032043.3	NP_114432.2:p.(Ala662Thr)	NC_000017.10:g.59853875C>T	VUS	6 labs	e532e6175d
15:41384310 INO80 T>C	15	41384310	41384310	T	C	INO80	c.452A>G	NM_017553.3	NP_060023.1:p.(Asn151Ser)	NC_000015.9:g.41384310T>C	(Likely) benign	2 labs	1e17cde37a
2:179428062 TTN G>A	2	179428062	179428062	G	A	TTN	c.82797C>T	NM_001267550.2	NP_001254479.2:p.(Gly27599=)	NC_000002.11:g.179428062G>A	(Likely) benign	2 labs	1e0eac54a5
9:135140228 SETX T>C	9	135140228	135140228	T	C	SETX	c.7432A>G	NM_015046.5	NP_055861.3:p.(Thr2478Ala)	NC_000009.11:g.135140228T>C	(Likely) benign	2 labs	1e23b92eb4
2:179571661 TTN C>G	2	179571661	179571661	C	G	TTN	c.29062G>C	NM_001267550.2	NP_001254479.2:p.(Ala9688Pro)	NC_000002.11:g.179571661C>G	VUS	2 labs	1e2532afcb
1:156104292 LMNA G>A	1	156104292	156104292	G	A	LMNA	c.612G>A	NM_170707.4	NP_733821.1:p.(Leu204=)	NC_000001.10:g.156104292G>A	(Likely) benign	6 labs	1e2eacc7c7
16:3779309 CREBBP G>A	16	3779309	3779309	G	A	CREBBP	c.5739C>T	NM_004380.3	NP_004371.2:p.(Pro1913=)	NC_000016.9:g.3779309G>A	(Likely) benign	2 labs	e536f17193
1:207940480 CD46 G>A	1	207940480	207940480	G	A	CD46	c.796G>A	NM_002389.4	NP_002380.3:p.(Asp266Asn)	NC_000001.10:g.207940480G>A	(Likely) benign	2 labs	1e2f455d12
11:33743974 CD59 C>T	11	33743974	33743974	C	T	CD59	c.18G>A	NM_001127223.1	NP_001120695.1:p.(Gly6=)	NC_000011.9:g.33743974C>T	(Likely) benign	2 labs	1e302fffb7
14:23861876 MYH6 T>G	14	23861876	23861876	T	G	MYH6	c.3252-15A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23861876T>G	(Likely) benign	3 labs	1e309e51ca
3:183962430 ALG3 G>A	3	183962430	183962430	G	A	ALG3	c.541C>T	NM_001006941.2	NP_001006942.1:p.(Arg181Cys)	NC_000003.11:g.183962430G>A	VUS	2 labs	1e30b90461
10:75849921 VCL T>C	10	75849921	75849921	T	C	VCL	c.1317T>C	NM_014000.3	NP_054706.1:p.(Ser439=)	NC_000010.10:g.75849921T>C	(Likely) benign	5 labs	1e3462f6c6
7:103130238 RELN G>A	7	103130238	103130238	G	A	RELN	c.9714C>T	NM_005045.4	NP_005036.2:p.(His3238=)	NC_000007.13:g.103130238G>A	(Likely) benign	2 labs	1e447b2866
X:132548956 GPC4 A>T	X	132548956	132548956	A	T	GPC4	c.38T>A	NM_001448.3	NP_001439.2:p.(Leu13Gln)	NC_000023.10:g.132548956A>T	(Likely) benign	2 labs	1e4cf329ca
2:15607842 NBAS T>C	2	15607842	15607842	T	C	NBAS	c.1964A>G	NM_015909.4	NP_056993.2:p.(Lys655Arg)	NC_000002.11:g.15607842T>C	(Likely) benign	2 labs	e5489e3dad
1:41289826 KCNQ4 C>T	1	41289826	41289826	C	T	KCNQ4	c.1188C>T	NM_004700.3	NP_004691.2:p.(Pro396=)	NC_000001.10:g.41289826C>T	(Likely) benign	2 labs	1e4e6b58bc
6:88228353 RARS2 G>T	6	88228353	88228353	G	T	RARS2	c.1410C>A	NM_020320.4	NP_064716.2:p.(Leu470=)	NC_000006.11:g.88228353G>T	(Likely) benign	2 labs	1e4eb0e803
20:33588858 MYH7B A>C	20	33588858	33588858	A	C	MYH7B	c.5498A>C	NM_020884.4	NP_065935.3:p.(Lys1833Thr)	NC_000020.10:g.33588858A>C	VUS	2 labs	1e5b9a24cb
1:156107470 LMNA G>A	1	156107470	156107470	G	A	LMNA	c.1634G>A	NM_170707.4	NP_733821.1:p.(Arg545His)	NC_000001.10:g.156107470G>A	VUS	6 labs	e54b87e431
2:26725158 OTOF G>A	2	26725158	26725158	G	A	OTOF	c.710+10C>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26725158G>A	(Likely) benign	2 labs	1e65bba041
16:51173589 SALL1 T>C	16	51173589	51173589	T	C	SALL1	c.2544A>G	NM_002968.2	NP_002959.2:p.(Gln848=)	NC_000016.9:g.51173589T>C	(Likely) benign	2 labs	1e6630e5e7
11:6411930 SMPD1 CCTGGTGCTGGCGCTGGCG>C	11	6411930	6411952	CCTGGTGCTGGCGCTGGCG	C	SMPD1	c.107_124del	NM_000543.5	NP_000534.3:p.(Val36_Leu41del)	NC_000011.9:g.6411935_6411952del	(Likely) benign	2 labs	1e6879481e
2:39250121 SOS1 G>A	2	39250121	39250121	G	A	SOS1	c.1448C>T	NM_005633.3	NP_005624.2:p.(Ala483Val)	NC_000002.11:g.39250121G>A	VUS	2 labs	1e6a919833
11:6411836 SMPD1 G>A	11	6411836	6411836	G	A	SMPD1	c.8G>A	NM_000543.5	NP_000534.3:p.(Arg3His)	NC_000011.9:g.6411836G>A	(Likely) benign	2 labs	1e6e172326
17:17700305 RAI1 C>T	17	17700305	17700305	C	T	RAI1	c.4043C>T	NM_030665.3	NP_109590.3:p.(Ala1348Val)	NC_000017.10:g.17700305C>T	(Likely) benign	2 labs	1e726f66ee
20:43030033 HNF4A C>T	20	43030033	43030033	C	T	HNF4A	c.21C>T	NM_000457.4	NP_000448.3:p.(Leu7=)	NC_000020.10:g.43030033C>T	(Likely) benign	3 labs	1e81bc90ee
1:216166456 USH2A G>T	1	216166456	216166456	G	T	USH2A	c.6711C>A	NM_206933.4	NP_996816.3:p.(Asp2237Glu)	NC_000001.10:g.216166456G>T	(Likely) benign	2 labs	1e7698720d
11:36595579 RAG1 A>G	11	36595579	36595579	A	G	RAG1	c.725A>G	NM_000448.2	NP_000439.1:p.(Gln242Arg)	NC_000011.9:g.36595579A>G	(Likely) benign	3 labs	1e83166268
6:161152085 PLG G>A	6	161152085	161152085	G	A	PLG	c.1259G>A	NM_000301.3	NP_000292.1:p.(Gly420Asp)	NC_000006.11:g.161152085G>A	(Likely) benign	2 labs	1e8746ec52
2:179449685 TTN G>A	2	179449685	179449685	G	A	TTN	c.64683C>T	NM_001267550.2	NP_001254479.2:p.(Gly21561=)	NC_000002.11:g.179449685G>A	(Likely) benign	2 labs	1e89144c25
2:109384494 RANBP2 C>T	2	109384494	109384494	C	T	RANBP2	c.7499C>T	NM_006267.5	NP_006258.3:p.(Thr2500Ile)	NC_000002.11:g.109384494C>T	(Likely) benign	4 labs	1e97339861
12:6442644 TNFRSF1A G>A	12	6442644	6442644	G	A	TNFRSF1A	c.361C>T	NM_001065.4	NP_001056.1:p.(Arg121Trp)	NC_000012.11:g.6442644G>A	(Likely) pathogenic	2 labs	e55780eade
4:155486984 FGB C>T	4	155486984	155486984	C	T	FGB	c.139C>T	NM_005141.4	NP_005132.2:p.(Arg47Ter)	NC_000004.11:g.155486984C>T	(Likely) pathogenic	2 labs	1ea15d5b06
6:157099165 ARID1B G>GTCC	6	157099165	157099186	G	GTCC	ARID1B	c.121_123dup	NM_020732.3	NP_065783.3:p.(Ser41dup)	NC_000006.11:g.157099184_157099186dup	(Likely) benign	2 labs	1ea1fdba43
19:13006872 GCDH T>C	19	13006872	13006872	T	C	GCDH	c.572T>C	NM_000159.3	NP_000150.1:p.(Met191Thr)	NC_000019.9:g.13006872T>C	(Likely) pathogenic	2 labs	1ea9c8063c
11:108124787 ATM A>G	11	108124787	108124787	A	G	ATM	c.2124+21A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108124787A>G	(Likely) benign	4 labs	1ea1e8420f
15:63354008 TPM1 G>C	15	63354008	63354008	G	C	TPM1	c.639+21G>C	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63354008G>C	(Likely) benign	2 labs	1eaab0c7b9
14:23858278 MYH6 G>C	14	23858278	23858278	G	C	MYH6	c.3979-14C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858278G>C	(Likely) benign	2 labs	e565a48f21
4:15516494 CC2D2A T>TA	4	15516494	15516495	T	TA	CC2D2A	c.880+3dup	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15516495dup	(Likely) benign	2 labs	1ead446dbe
19:3770742 RAX2 C>T	19	3770742	3770742	C	T	RAX2	c.432G>A	NM_001319074.4	NP_001306003.2:p.(Ala144=)	NC_000019.9:g.3770742C>T	(Likely) benign	2 labs	1ead3b0a68
1:235993575 LYST T>C	1	235993575	235993575	T	C	LYST	c.143A>G	NM_001301365.1	NP_001288294.1:p.(His48Arg)	NC_000001.10:g.235993575T>C	(Likely) benign	2 labs	1eba1548c5
18:29118882 DSG2 A>G	18	29118882	29118882	A	G	DSG2	c.1820A>G	NM_001943.5	NP_001934.2:p.(Tyr607Cys)	NC_000018.9:g.29118882A>G	VUS	2 labs	e567c4dc4d
7:21678643 DNAH11 A>G	7	21678643	21678643	A	G	DNAH11				NC_000007.13:g.21678643A>G	(Likely) benign	2 labs	1ebd748b90
2:179467204 TTN C>G	2	179467204	179467204	C	G	TTN	c.54925G>C	NM_001267550.2	NP_001254479.2:p.(Val18309Leu)	NC_000002.11:g.179467204C>G	VUS	2 labs	1ebc00bd84
X:53562421 HUWE1 G>C	X	53562421	53562421	G	C	HUWE1	c.12573C>G	NM_031407.6	NP_113584.3:p.(Pro4191=)	NC_000023.10:g.53562421G>C	(Likely) benign	2 labs	1ebf9274d4
7:150873217 ASB10 A>C	7	150873217	150873217	A	C	ASB10	c.1272T>G	NM_001142460.1	NP_001135932.2:p.(Phe424Leu)	NC_000007.13:g.150873217A>C	VUS	2 labs	1ec1f4071d
17:18046138 MYO15A G>A	17	18046138	18046138	G	A	MYO15A	c.5894G>A	NM_016239.3	NP_057323.3:p.(Arg1965His)	NC_000017.10:g.18046138G>A	(Likely) benign	2 labs	1ed1cb8287
17:7983245 ALOX12B G>C	17	7983245	7983245	G	C	ALOX12B	c.769C>G	NM_001139.3	NP_001130.1:p.(His257Asp)	NC_000017.10:g.7983245G>C	(Likely) pathogenic	2 labs	1ed2bec639
13:32906907 BRCA2 CAG>C	13	32906907	32906912	CAG	C	BRCA2	c.1296_1297del	NM_000059.4	NP_000050.3:p.(Asn433GlnfsTer18)	NC_000013.10:g.32906911_32906912del	(Likely) pathogenic	2 labs	1ee1fc3b0b
19:40742161 AKT2 C>T	19	40742161	40742161	C	T	AKT2	c.960+3G>A	NM_001626.5	NP_001617.1:p.?	NC_000019.9:g.40742161C>T	(Likely) benign	2 labs	1eda3b179b
2:220419327 OBSL1 C>T	2	220419327	220419327	C	T	OBSL1	c.4745G>A	NM_015311.2	NP_056126.1:p.(Gly1582Glu)	NC_000002.11:g.220419327C>T	(Likely) benign	2 labs	1edc17a1c4
X:150345371 GPR50 C>T	X	150345371	150345371	C	T	GPR50	c.178C>T	NM_004224.3	NP_004215.2:p.(Arg60Trp)	NC_000023.10:g.150345371C>T	(Likely) benign	2 labs	1ee674fb6e
7:83021901 SEMA3E C>T	7	83021901	83021901	C	T	SEMA3E	c.1637G>A	NM_012431.3	NP_036563.1:p.(Arg546Gln)	NC_000007.13:g.83021901C>T	VUS	2 labs	1ee8f0d4a7
19:52250222 FPR1 G>A	19	52250222	52250222	G	A	FPR1	c.26C>T	NM_001193306.1	NP_001180235.1:p.(Thr9Met)	NC_000019.9:g.52250222G>A	(Likely) benign	2 labs	1f00c99fed
16:2158548 PKD1 G>A	16	2158548	2158548	G	A	PKD1	c.6620C>T	NM_001009944.2	NP_001009944.2:p.(Pro2207Leu)	NC_000016.9:g.2158548G>A	VUS	2 labs	1f03d4b737
2:178257731 AGPS A>G	2	178257731	178257731	A	G	AGPS	c.214A>G	NM_003659.3	NP_003650.1:p.(Thr72Ala)	NC_000002.11:g.178257731A>G	(Likely) benign	2 labs	1f09f00a5a
10:86017767 RGR A>G	10	86017767	86017767	A	G	RGR	c.756+5A>G	NM_002921.4	NP_002912.2:p.?	NC_000010.10:g.86017767A>G	(Likely) benign	2 labs	1f03de3aba
10:115389344 NRAP C>T	10	115389344	115389344	C	T	NRAP	c.2040+3G>A	NM_001261463.2	NP_001248392.1:p.?	NC_000010.10:g.115389344C>T	(Likely) benign	2 labs	e57bc15e6c
6:32821112 TAP1 G>A	6	32821112	32821112	G	A	TAP1	c.482C>T	NM_000593.5	NP_000584.2:p.(Ala161Val)	NC_000006.11:g.32821112G>A	(Likely) benign	2 labs	1f175488f8
18:7038800 LAMA1 G>A	18	7038800	7038800	G	A	LAMA1	c.1563+9C>T	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7038800G>A	(Likely) benign	2 labs	1f1ac8e40f
20:34089740 CEP250 G>A	20	34089740	34089740	G	A	CEP250	c.3967G>A	NM_007186.6	NP_009117.2:p.(Ala1323Thr)	NC_000020.10:g.34089740G>A	(Likely) benign	2 labs	1f1b48b080
12:49432512 KMT2D T>G	12	49432512	49432512	T	G	KMT2D	c.8627A>C	NM_003482.3	NP_003473.3:p.(Gln2876Pro)	NC_000012.11:g.49432512T>G	(Likely) benign	2 labs	1f21891b27
20:61452566 COL9A3 G>C	20	61452566	61452566	G	C	COL9A3	c.343G>C	NM_001853.4	NP_001844.3:p.(Gly115Arg)	NC_000020.10:g.61452566G>C	VUS	2 labs	1f258b95d9
5:82875800 VCAN C>T	5	82875800	82875800	C	T	VCAN	c.9882C>T	NM_004385.5	NP_004376.2:p.(Val3294=)	NC_000005.9:g.82875800C>T	(Likely) benign	2 labs	e5848e7271
8:145540283 DGAT1 T>A	8	145540283	145540283	T	A	DGAT1	c.1401A>T	NM_012079.5	NP_036211.2:p.(Ile467=)	NC_000008.10:g.145540283T>A	(Likely) benign	2 labs	1f30a6f8d0
2:211521333 CPS1 A>G	2	211521333	211521333	A	G	CPS1	c.3643A>G	NM_001875.4	NP_001866.2:p.(Ile1215Val)	NC_000002.11:g.211521333A>G	VUS	2 labs	1f3f7d63a2
2:179468920 TTN C>T	2	179468920	179468920	C	T	TTN	c.54494G>A	NM_001267550.2	NP_001254479.2:p.(Arg18165His)	NC_000002.11:g.179468920C>T	(Likely) benign	2 labs	e58d1d4f49
3:190127743 CLDN16 C>A	3	190127743	190127743	C	A	CLDN16	c.836C>A	NM_006580.3	NP_006571.1:p.(Ala279Asp)	NC_000003.11:g.190127743C>A	(Likely) benign	2 labs	1f452c1a3a
11:1774907 CTSD C>T	11	1774907	1774907	C	T	CTSD	c.1072-7G>A	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1774907C>T	(Likely) benign	3 labs	e58d3dbfae
2:179471823 TTN G>A	2	179471823	179471823	G	A	TTN	c.53506C>T	NM_001267550.2	NP_001254479.2:p.(Arg17836Cys)	NC_000002.11:g.179471823G>A	VUS	2 labs	e5912402f0
11:118919562 HYOU1 C>T	11	118919562	118919562	C	T	HYOU1	c.2029G>A	NM_006389.5	NP_006380.1:p.(Val677Ile)	NC_000011.9:g.118919562C>T	(Likely) benign	2 labs	1f50dc389b
6:137527272 IFNGR1 C>A	6	137527272	137527272	C	A	IFNGR1	c.373+1G>T	NM_000416.3	NP_000407.1:p.?	NC_000006.11:g.137527272C>A	(Likely) pathogenic	5 labs	1f519602c6
9:139407931 NOTCH1 CATT>C	9	139407931	139407934	CATT	C	NOTCH1	c.2263_2265del	NM_017617.5	NP_060087.3:p.(Asn755del)	NC_000009.11:g.139407932_139407934del	VUS	2 labs	1f5d9579c0
X:66905877 AR C>A	X	66905877	66905877	C	A	AR	c.1794C>A	NM_000044.6	NP_000035.2:p.(Ser598Arg)	NC_000023.10:g.66905877C>A	(Likely) pathogenic	2 labs	1f5a55bd1b
5:13830217 DNAH5 T>A	5	13830217	13830217	T	A	DNAH5	c.6167A>T	NM_001369.2	NP_001360.1:p.(Lys2056Ile)	NC_000005.9:g.13830217T>A	(Likely) benign	2 labs	1f6119fecd
2:167313422 SCN7A T>C	2	167313422	167313422	T	C	SCN7A	c.1248A>G	NM_002976.3	NP_002967.2:p.(Gln416=)	NC_000002.11:g.167313422T>C	(Likely) benign	2 labs	1f63db83c1
16:15785049 NDE1 C>T	16	15785049	15785049	C	T	NDE1	c.572C>T	NM_001143979.1	NP_001137451.1:p.(Thr191Ile)	NC_000016.9:g.15785049C>T	(Likely) benign	2 labs	1f64f52013
14:68229394 ZFYVE26 C>T	14	68229394	68229394	C	T	ZFYVE26	c.6154G>A	NM_015346.4	NP_056161.2:p.(Val2052Ile)	NC_000014.8:g.68229394C>T	VUS	2 labs	1f76eac7b0
16:9892300 GRIN2A G>A	16	9892300	9892300	G	A	GRIN2A	c.2190C>T	NM_001134407.3	NP_001127879.1:p.(Tyr730=)	NC_000016.9:g.9892300G>A	(Likely) benign	2 labs	1f717d016b
2:48132690 FBXO11 G>GGCT	2	48132690	48132713	G	GGCT	FBXO11	c.167_169dup	NM_001190274.2	NP_001177203.1:p.(Gln56dup)	NC_000002.11:g.48132711_48132713dup	(Likely) benign	3 labs	e59baf95be
16:2144109 PKD1 C>T	16	2144109	2144109	C	T	PKD1	c.10602G>A	NM_001009944.2	NP_001009944.2:p.(Ala3534=)	NC_000016.9:g.2144109C>T	(Likely) benign	3 labs	1f8351124f
7:117171171 CFTR A>G	7	117171171	117171171	A	G	CFTR	c.489+3A>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117171171A>G	VUS	3 labs	1f91a585fa
16:57938727 CNGB1 G>GC	16	57938727	57938733	G	GC	CNGB1	c.2544dup	NM_001297.5	NP_001288.3:p.(Leu849AlafsTer3)	NC_000016.9:g.57938733dup	(Likely) pathogenic	2 labs	1f8b65f366
17:42992759 GFAP A>G	17	42992759	42992759	A	G	GFAP	c.96T>C	NM_002055.4	NP_002046.1:p.(Gly32=)	NC_000017.10:g.42992759A>G	(Likely) benign	2 labs	1f988b6dbf
1:100387136 AGL T>TA	1	100387136	100387137	T	TA	AGL	c.4529dup	NM_000028.2	NP_000019.2:p.(Tyr1510Ter)	NC_000001.10:g.100387137dup	(Likely) pathogenic	2 labs	e5a4442cab
X:48380298 EBP G>C	X	48380298	48380298	G	C	EBP	c.-74+3G>C	NM_006579.2	NP_006570.1:p.?	NC_000023.10:g.48380298G>C	(Likely) benign	3 labs	1fa4ab8d37
17:7751531 KDM6B C>T	17	7751531	7751531	C	T	KDM6B	c.1925C>T	NM_001080424.2	NP_001073893.1:p.(Pro642Leu)	NC_000017.10:g.7751531C>T	(Likely) benign	2 labs	1fa52503b5
1:228548384 OBSCN C>T	1	228548384	228548384	C	T	OBSCN	c.19791C>T	NM_052843.3	NP_443075.3:p.(Phe6597=)	NC_000001.10:g.228548384C>T	(Likely) benign	2 labs	1fb12043c8
7:117251771 CFTR C>A	7	117251771	117251771	C	A	CFTR	c.3276C>A	NM_000492.4	NP_000483.3:p.(Tyr1092Ter)	NC_000007.13:g.117251771C>A	(Likely) pathogenic	3 labs	1fb885126d
11:17408555 KCNJ11 C>T	11	17408555	17408555	C	T	KCNJ11	c.1084G>A	NM_000525.3	NP_000516.3:p.(Ala362Thr)	NC_000011.9:g.17408555C>T	VUS	2 labs	1fb966394a
16:56362687 GNAO1 A>C	16	56362687	56362687	A	C	GNAO1	c.448A>C	NM_138736.2	NP_620073.2:p.(Asn150His)	NC_000016.9:g.56362687A>C	VUS	2 labs	1fbe9d3b11
7:151573595 PRKAG2 A>T	7	151573595	151573595	A	T	PRKAG2	c.111T>A	NM_016203.4	NP_057287.2:p.(Ile37=)	NC_000007.13:g.151573595A>T	(Likely) benign	5 labs	e5a950677c
X:13778612 OFD1 C>G	X	13778612	13778612	C	G	OFD1	c.1613C>G	NM_001330210.2	NP_001317139.1:p.(Ala538Gly)	NC_000023.10:g.13778612C>G	(Likely) benign	3 labs	1fd0c2dbc6
1:196967316 CFHR5 G>A	1	196967316	196967316	G	A	CFHR5	c.1029G>A	NM_030787.3	NP_110414.1:p.(Lys343=)	NC_000001.10:g.196967316G>A	(Likely) benign	2 labs	1fd40ec37a
12:116446935 MED13L T>C	12	116446935	116446935	T	C	MED13L	c.1283A>G	NM_015335.4	NP_056150.1:p.(His428Arg)	NC_000012.11:g.116446935T>C	(Likely) benign	2 labs	1fdbf6756a
16:2036012 GFER G>A	16	2036012	2036012	G	A	GFER	c.601G>A	NM_005262.2	NP_005253.3:p.(Asp201Asn)	NC_000016.9:g.2036012G>A	VUS	2 labs	1fdd0948aa
19:36223478 KMT2B G>T	19	36223478	36223478	G	T	KMT2B	c.6028G>T	NM_014727.3	NP_055542.1:p.(Ala2010Ser)	NC_000019.9:g.36223478G>T	(Likely) benign	2 labs	1fe36c6e6e
9:2056780 SMARCA2 A>G	9	2056780	2056780	A	G	SMARCA2	c.1282A>G	NM_003070.4	NP_003061.3:p.(Met428Val)	NC_000009.11:g.2056780A>G	VUS	2 labs	1fe5262087
5:176562584 NSD1 C>T	5	176562584	176562584	C	T	NSD1	c.480C>T	NM_022455.4	NP_071900.2:p.(Asp160=)	NC_000005.9:g.176562584C>T	(Likely) benign	2 labs	1fee196537
4:57366826 SRP72 G>A	4	57366826	57366826	G	A	SRP72	c.1803G>A	NM_006947.4	NP_008878.3:p.(Gly601=)	NC_000004.11:g.57366826G>A	(Likely) benign	2 labs	1fee3d9c37
1:3329264 PRDM16 G>A	1	3329264	3329264	G	A	PRDM16	c.2503G>A	NM_022114.4	NP_071397.3:p.(Ala835Thr)	NC_000001.10:g.3329264G>A	(Likely) benign	2 labs	2001e9b07e
10:79397367 KCNMA1 T>C	10	79397367	79397367	T	C	KCNMA1	c.34A>G	NM_001322830.2	NP_001309759.1:p.(Ser12Gly)	NC_000010.10:g.79397367T>C	(Likely) benign	2 labs	1ff51cc46f
13:32971042 BRCA2 A>G	13	32971042	32971042	A	G	BRCA2	c.9509A>G	NM_000059.3	NP_000050.2:p.(Asp3170Gly)	NC_000013.10:g.32971042A>G	(Likely) benign	2 labs	200ac35a36
15:23890473 MAGEL2 C>T	15	23890473	23890473	C	T	MAGEL2	c.2417G>A	NM_019066.4	NP_061939.3:p.(Gly806Asp)	NC_000015.9:g.23890473C>T	VUS	2 labs	200beaf8c5
6:31936477 SKIC2 G>A	6	31936477	31936477	G	A	SKIC2	c.3084G>A	NM_006929.4	NP_008860.4:p.(Arg1028=)	NC_000006.11:g.31936477G>A	(Likely) benign	2 labs	200cb88108
1:154246014 HAX1 C>T	1	154246014	154246014	C	T	HAX1	c.256C>T	NM_006118.3	NP_006109.2:p.(Arg86Ter)	NC_000001.10:g.154246014C>T	(Likely) pathogenic	2 labs	200cc9bf5f
19:39057618 RYR1 A>G	19	39057618	39057618	A	G	RYR1	c.13505A>G	NM_000540.2	NP_000531.2:p.(Glu4502Gly)	NC_000019.9:g.39057618A>G	VUS	2 labs	200cdbf012
19:52716214 PPP2R1A G>A	19	52716214	52716214	G	A	PPP2R1A	c.121G>A	NM_001363656.1	NP_001350585.1:p.(Val41Met)	NC_000019.9:g.52716214G>A	VUS	2 labs	201948b48a
10:6066302 IL2RA G>A	10	6066302	6066302	G	A	IL2RA	c.272C>T	NM_000417.2	NP_000408.1:p.(Thr91Met)	NC_000010.10:g.6066302G>A	(Likely) benign	2 labs	201be49d1c
2:21231095 APOB G>A	2	21231095	21231095	G	A	APOB	c.8645C>T	NM_000384.3	NP_000375.3:p.(Thr2882Ile)	NC_000002.11:g.21231095G>A	VUS	2 labs	202084e02a
10:121429394 BAG3 G>A	10	121429394	121429394	G	A	BAG3	c.212G>A	NM_004281.4	NP_004272.2:p.(Arg71Gln)	NC_000010.10:g.121429394G>A	(Likely) benign	5 labs	e5bc2f6ab8
X:134988197 SAGE1 C>CA	X	134988197	134988198	C	CA	SAGE1	c.470dup	NM_018666.2	NP_061136.2:p.(His157GlnfsTer5)	NC_000023.10:g.134988198dup	(Likely) benign	2 labs	2029c69e47
6:139694616 CITED2 A>C	6	139694616	139694616	A	C	CITED2	c.466T>G	NM_006079.5	NP_006070.2:p.(Cys156Gly)	NC_000006.11:g.139694616A>C	VUS	3 labs	e5c8d22bcc
1:205116700 DSTYK C>A	1	205116700	205116700	C	A	DSTYK	c.2776G>T	NM_015375.2	NP_056190.1:p.(Asp926Tyr)	NC_000001.10:g.205116700C>A	VUS	2 labs	2034f57858
4:178361414 AGA A>C	4	178361414	178361414	A	C	AGA	c.281+13T>G	NM_000027.4	NP_000018.2:p.?	NC_000004.11:g.178361414A>C	(Likely) benign	2 labs	2043b2e336
2:21232455 APOB A>T	2	21232455	21232455	A	T	APOB	c.7285T>A	NM_000384.3	NP_000375.3:p.(Ser2429Thr)	NC_000002.11:g.21232455A>T	(Likely) benign	2 labs	2049c07dcd
1:228506768 OBSCN C>T	1	228506768	228506768	C	T	OBSCN	c.17186C>T	NM_001271223.2	NP_001258152.2:p.(Pro5729Leu)	NC_000001.10:g.228506768C>T	(Likely) benign	2 labs	20578f8bbe
15:85401457 ALPK3 C>T	15	85401457	85401457	C	T	ALPK3	c.3488C>T	NM_020778.5	NP_065829.4:p.(Ala1163Val)	NC_000015.9:g.85401457C>T	VUS	4 labs	20641bf083
17:1637458 WDR81 G>A	17	1637458	1637458	G	A	WDR81	c.5127G>A	NM_001163809.2	NP_001157281.1:p.(Pro1709=)	NC_000017.10:g.1637458G>A	(Likely) benign	2 labs	20688a4964
19:1226654 STK11 C>T	19	1226654	1226654	C	T	STK11	c.*8C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1226654C>T	(Likely) benign	3 labs	e5d03675f7
3:38521157 ACVR2B G>A	3	38521157	38521157	G	A	ACVR2B	c.811-12G>A	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38521157G>A	(Likely) benign	3 labs	207005422d
12:57424918 MYO1A G>A	12	57424918	57424918	G	A	MYO1A	c.2390C>T	NM_001256041.2	NP_001242970.1:p.(Ser797Phe)	NC_000012.11:g.57424918G>A	(Likely) benign	2 labs	20987036b0
12:112891152 PTPN11 C>T	12	112891152	112891152	C	T	PTPN11	c.486C>T	NM_002834.3	NP_002825.3:p.(Asp162=)	NC_000012.11:g.112891152C>T	(Likely) benign	2 labs	207e259f92
X:53228152 KDM5C T>C	X	53228152	53228152	T	C	KDM5C	c.2243+7A>G	NM_004187.3	NP_004178.2:p.?	NC_000023.10:g.53228152T>C	(Likely) benign	2 labs	20823ac2ff
15:65943107 SLC24A1 G>GAGGAGGAAGAGC	15	65943107	65943130	G	GAGGAGGAAGAGC	SLC24A1	c.2632_2643dup	NM_004727.2	NP_004718.1:p.(Gln878_Glu881dup)	NC_000015.9:g.65943119_65943130dup	VUS	2 labs	20863eafc0
3:43591327 ANO10 G>A	3	43591327	43591327	G	A	ANO10	c.1682C>T	NM_001204831.3	NP_001191760.1:p.(Thr561Met)	NC_000003.11:g.43591327G>A	(Likely) benign	3 labs	2088ff6dfa
14:103336517 TRAF3 G>A	14	103336517	103336517	G	A	TRAF3	c.-17-5G>A	NM_145725.2	NP_663777.1:p.?	NC_000014.8:g.103336517G>A	(Likely) benign	2 labs	208f75765f
5:90151698 ADGRV1 C>G	5	90151698	90151698	C	G	ADGRV1	c.17735C>G	NM_032119.4	NP_115495.3:p.(Ser5912Cys)	NC_000005.9:g.90151698C>G	VUS	2 labs	20902c7ba0
6:90718549 BACH2 C>T	6	90718549	90718549	C	T	BACH2	c.15G>A	NM_021813.4	NP_068585.1:p.(Glu5=)	NC_000006.11:g.90718549C>T	(Likely) benign	2 labs	2090eb9396
2:241727461 KIF1A T>C	2	241727461	241727461	T	C	KIF1A	c.363+7A>G	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241727461T>C	(Likely) benign	2 labs	209231b136
2:163124722 IFIH1 C>T	2	163124722	163124722	C	T	IFIH1	c.2682G>A	NM_022168.4	NP_071451.2:p.(Lys894=)	NC_000002.11:g.163124722C>T	(Likely) benign	2 labs	20967bc9d0
5:138386706 SIL1 G>A	5	138386706	138386706	G	A	SIL1	c.274C>T	NM_001037633.1	NP_001032722.1:p.(Arg92Trp)	NC_000005.9:g.138386706G>A	(Likely) benign	2 labs	20a593ee81
11:103174000 DYNC2H1 C>T	11	103174000	103174000	C	T	DYNC2H1	c.11277+18C>T	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103174000C>T	(Likely) benign	2 labs	20adf72a60
14:50121715 POLE2 G>A	14	50121715	50121715	G	A	POLE2	c.1018+8C>T	NM_002692.3	NP_002683.2:p.?	NC_000014.8:g.50121715G>A	(Likely) benign	2 labs	20b1ac8912
10:69966588 MYPN G>A	10	69966588	69966588	G	A	MYPN	c.2839G>A	NM_001256268.2	NP_001243197.1:p.(Ala947Thr)	NC_000010.10:g.69966588G>A	VUS	2 labs	20c442a560
13:32945130 BRCA2 G>A	13	32945130	32945130	G	A	BRCA2	c.8525G>A	NM_000059.4	NP_000050.3:p.(Arg2842His)	NC_000013.10:g.32945130G>A	(Likely) benign	7 labs	e5e80a87ee
1:196694261 CFH C>T	1	196694261	196694261	C	T	CFH	c.1707C>T	NM_000186.3	NP_000177.2:p.(Cys569=)	NC_000001.10:g.196694261C>T	(Likely) benign	3 labs	20ca266364
10:93416 TUBB8 G>A	10	93416	93416	G	A	TUBB8	c.916C>T	NM_177987.3	NP_817124.1:p.(Arg306Cys)	NC_000010.10:g.93416G>A	(Likely) benign	2 labs	20d0d7037f
21:47847700 PCNT C>T	21	47847700	47847700	C	T	PCNT	c.7485C>T	NM_006031.5	NP_006022.3:p.(Ile2495=)	NC_000021.8:g.47847700C>T	(Likely) benign	2 labs	20d1f7f1bf
5:41201774 C6 T>G	5	41201774	41201774	T	G	C6	c.186A>C	NM_001115131.2	NP_001108603.2:p.(Glu62Asp)	NC_000005.9:g.41201774T>G	(Likely) benign	2 labs	20d527fa3e
13:20797408 GJB6 A>G	13	20797408	20797408	A	G	GJB6	c.212T>C	NM_006783.5	NP_006774.2:p.(Val71Ala)	NC_000013.10:g.20797408A>G	VUS	2 labs	20db23fb5c
2:166245642 SCN2A C>T	2	166245642	166245642	C	T	SCN2A	c.5326C>T	NM_021007.3	NP_066287.2:p.(Leu1776=)	NC_000002.11:g.166245642C>T	(Likely) benign	2 labs	e5ee893b8f
3:27763350 EOMES G>A	3	27763350	27763350	G	A	EOMES	c.436C>T	NM_001278182.1	NP_001265111.1:p.(Leu146Phe)	NC_000003.11:g.27763350G>A	(Likely) benign	2 labs	20e49a828e
5:1278807 TERT G>A	5	1278807	1278807	G	A	TERT	c.2235C>T	NM_198253.2	NP_937983.2:p.(Ala745=)	NC_000005.9:g.1278807G>A	(Likely) benign	2 labs	20e53d745b
9:103054941 INVS G>A	9	103054941	103054941	G	A	INVS	c.2402G>A	NM_014425.4	NP_055240.2:p.(Gly801Glu)	NC_000009.11:g.103054941G>A	(Likely) benign	2 labs	20efb10713
6:90718577 BACH2 T>TGAAAGAAA	6	90718577	90718593	T	TGAAAGAAA	BACH2	c.-12-10_-12-3dup	NM_021813.4	NP_068585.1:p.?	NC_000006.11:g.90718586_90718593dup	(Likely) benign	2 labs	210068068d
8:6296550 MCPH1 G>T	8	6296550	6296550	G	T	MCPH1	c.513G>T	NM_001172574.2	NP_001166045.2:p.(Arg171Ser)	NC_000008.10:g.6296550G>T	(Likely) benign	2 labs	2105e3959e
17:63533469 AXIN2 G>A	17	63533469	63533469	G	A	AXIN2	c.1685C>T	NM_004655.4	NP_004646.3:p.(Pro562Leu)	NC_000017.10:g.63533469G>A	(Likely) benign	3 labs	21088429b5
2:9630435 ADAM17 G>A	2	9630435	9630435	G	A	ADAM17	c.2346C>T	NM_003183.6	NP_003174.3:p.(Phe782=)	NC_000002.11:g.9630435G>A	(Likely) benign	2 labs	211642b3bb
2:179429802 TTN A>G	2	179429802	179429802	A	G	TTN	c.81057T>C	NM_001267550.2	NP_001254479.2:p.(Thr27019=)	NC_000002.11:g.179429802A>G	(Likely) benign	3 labs	211a33ec5a
2:29455267 ALK A>G	2	29455267	29455267	A	G	ALK	c.2535T>C	NM_004304.5	NP_004295.2:p.(Gly845=)	NC_000002.11:g.29455267A>G	(Likely) benign	2 labs	211fada8ce
1:152276761 FLG T>C	1	152276761	152276761	T	C	FLG	c.10601A>G	NM_002016.1	NP_002007.1:p.(Asn3534Ser)	NC_000001.10:g.152276761T>C	(Likely) benign	2 labs	212ab34f07
12:49443979 KMT2D G>A	12	49443979	49443979	G	A	KMT2D	c.3392C>T	NM_003482.3	NP_003473.3:p.(Pro1131Leu)	NC_000012.11:g.49443979G>A	(Likely) benign	3 labs	21317295bb
X:8138222 VCX2 G>A	X	8138222	8138222	G	A	VCX2	c.271C>T	NM_016378.3	NP_057462.2:p.(Pro91Ser)	NC_000023.10:g.8138222G>A	(Likely) benign	2 labs	2132f4c129
16:3778853 CREBBP G>A	16	3778853	3778853	G	A	CREBBP	c.6195C>T	NM_004380.2	NP_004371.2:p.(Ser2065=)	NC_000016.9:g.3778853G>A	(Likely) benign	2 labs	21369dfa81
9:133927935 LAMC3 G>A	9	133927935	133927935	G	A	LAMC3	c.1688G>A	NM_006059.4	NP_006050.3:p.(Arg563Gln)	NC_000009.11:g.133927935G>A	(Likely) benign	2 labs	2132f766c5
3:47043648 NBEAL2 G>A	3	47043648	47043648	G	A	NBEAL2	c.5021G>A	NM_015175.3	NP_055990.1:p.(Arg1674His)	NC_000003.11:g.47043648G>A	(Likely) benign	3 labs	214129abfb
10:73767612 CHST3 G>A	10	73767612	73767612	G	A	CHST3	c.823G>A	NM_004273.4	NP_004264.2:p.(Val275Met)	NC_000010.10:g.73767612G>A	VUS	2 labs	2140e9e9ea
7:142459789 PRSS1 G>A	7	142459789	142459789	G	A	PRSS1	c.365G>A	NM_002769.5	NP_002760.1:p.(Arg122His)	NC_000007.13:g.142459789G>A	(Likely) pathogenic	2 labs	e61523e793
6:1611072 FOXC1 C>G	6	1611072	1611072	C	G	FOXC1	c.392C>G	NM_001453.3	NP_001444.2:p.(Ser131Trp)	NC_000006.11:g.1611072C>G	(Likely) pathogenic	2 labs	e615cc879b
6:151726892 RMND1 C>T	6	151726892	151726892	C	T	RMND1	c.1280G>A	NM_017909.3	NP_060379.2:p.(Arg427His)	NC_000006.11:g.151726892C>T	VUS	2 labs	2155f4fe44
1:41284366 KCNQ4 G>C	1	41284366	41284366	G	C	KCNQ4	c.708+14G>C	NM_004700.4	NP_004691.2:p.?	NC_000001.10:g.41284366G>C	(Likely) benign	3 labs	215750eee7
1:154557685 ADAR C>T	1	154557685	154557685	C	T	ADAR	c.2558+8G>A	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154557685C>T	(Likely) benign	2 labs	e61714b40d
16:31195279 FUS C>T	16	31195279	31195279	C	T	FUS	c.291C>T	NM_004960.4	NP_004951.1:p.(Tyr97=)	NC_000016.9:g.31195279C>T	(Likely) benign	4 labs	e618223347
1:216108098 USH2A A>G	1	216108098	216108098	A	G	USH2A	c.7160T>C	NM_206933.4	NP_996816.3:p.(Met2387Thr)	NC_000001.10:g.216108098A>G	(Likely) benign	2 labs	215e2bf2f1
6:133785975 EYA4 G>A	6	133785975	133785975	G	A	EYA4	c.783G>A	NM_004100.5	NP_004091.3:p.(Thr261=)	NC_000006.11:g.133785975G>A	(Likely) benign	3 labs	21631e56f0
14:61113278 SIX1 T>A	14	61113278	61113278	T	A	SIX1	c.578A>T	NM_005982.3	NP_005973.1:p.(Asn193Ile)	NC_000014.8:g.61113278T>A	(Likely) benign	4 labs	21679def5d
15:66995675 SMAD6 A>G	15	66995675	66995675	A	G	SMAD6	c.79A>G	NM_005585.4	NP_005576.3:p.(Ser27Gly)	NC_000015.9:g.66995675A>G	(Likely) benign	2 labs	216d270830
X:128691426 OCRL C>T	X	128691426	128691426	C	T	OCRL	c.349+14C>T	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128691426C>T	(Likely) benign	2 labs	2170178306
9:271626 DOCK8 G>T	9	271626	271626	G	T	DOCK8	c.54-1G>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.271626G>T	(Likely) pathogenic	3 labs	2175765df7
17:78086452 GAA C>T	17	78086452	78086452	C	T	GAA	c.1830C>T	NM_000152.3	NP_000143.2:p.(Ala610=)	NC_000017.10:g.78086452C>T	(Likely) benign	2 labs	21889b5940
4:84205724 COQ2 T>G	4	84205724	84205724	T	G	COQ2	c.344A>C	NM_015697.8	NP_056512.5:p.(Asp115Ala)	NC_000004.11:g.84205724T>G	(Likely) benign	2 labs	2188fe3bda
X:49104722 CCDC22 G>A	X	49104722	49104722	G	A	CCDC22	c.1163G>A	NM_014008.4	NP_054727.1:p.(Arg388His)	NC_000023.10:g.49104722G>A	(Likely) benign	2 labs	218afdf361
X:19564042 SH3KBP1 G>C	X	19564042	19564042	G	C	SH3KBP1	c.1696C>G	NM_001353891.1	NP_001340820.1:p.(Gln566Glu)	NC_000023.10:g.19564042G>C	(Likely) benign	2 labs	218e0d9e0d
2:179615994 TTN T>C	2	179615994	179615994	T	C	TTN	c.11133A>G	NM_133379.5	NP_596870.2:p.(Thr3711=)	NC_000002.11:g.179615994T>C	(Likely) benign	2 labs	e62d11703f
22:38369810 SOX10 C>G	22	38369810	38369810	C	G	SOX10	c.1093G>C	NM_006941.3	NP_008872.1:p.(Gly365Arg)	NC_000022.10:g.38369810C>G	VUS	2 labs	21989ba82b
2:217293442 SMARCAL1 A>T	2	217293442	217293442	A	T	SMARCAL1	c.1271A>T	NM_014140.3	NP_054859.2:p.(Asp424Val)	NC_000002.11:g.217293442A>T	(Likely) benign	3 labs	219e6a9de9
17:48266109 COL1A1 G>A	17	48266109	48266109	G	A	COL1A1	c.3093C>T	NM_000088.3	NP_000079.2:p.(Gly1031=)	NC_000017.10:g.48266109G>A	(Likely) benign	2 labs	21a584c054
2:163136564 IFIH1 A>C	2	163136564	163136564	A	C	IFIH1	c.1583T>G	NM_022168.4	NP_071451.2:p.(Leu528Arg)	NC_000002.11:g.163136564A>C	(Likely) benign	2 labs	21ac6be4bf
10:70192040 DNA2 C>T	10	70192040	70192040	C	T	DNA2	c.1796G>A	NM_001080449.2	NP_001073918.2:p.(Arg599His)	NC_000010.10:g.70192040C>T	(Likely) benign	2 labs	21ab95b232
2:179580200 TTN C>T	2	179580200	179580200	C	T	TTN	c.25921+20G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179580200C>T	(Likely) benign	4 labs	21ad72cd92
7:99700378 AP4M1 C>T	7	99700378	99700378	C	T	AP4M1	c.228C>T	NM_004722.3	NP_004713.2:p.(Pro76=)	NC_000007.13:g.99700378C>T	(Likely) benign	2 labs	21b3c98f8d
X:129203318 ELF4 C>T	X	129203318	129203318	C	T	ELF4	c.1144G>A	NM_001421.3	NP_001412.1:p.(Val382Ile)	NC_000023.10:g.129203318C>T	(Likely) benign	2 labs	21b9be9909
6:152751696 SYNE1 C>T	6	152751696	152751696	C	T	SYNE1	c.4610G>A	NM_182961.3	NP_892006.3:p.(Arg1537Gln)	NC_000006.11:g.152751696C>T	(Likely) benign	2 labs	21b9caeda2
X:137821409 FGF13 T>C	X	137821409	137821409	T	C	FGF13	c.23A>G	NM_033642.3	NP_378668.1:p.(Tyr8Cys)	NC_000023.10:g.137821409T>C	(Likely) benign	2 labs	21c505d907
14:68241793 ZFYVE26 C>T	14	68241793	68241793	C	T	ZFYVE26	c.5260G>A	NM_015346.3	NP_056161.2:p.(Ala1754Thr)	NC_000014.8:g.68241793C>T	(Likely) benign	3 labs	21c158b9e3
1:152278956 FLG G>A	1	152278956	152278956	G	A	FLG	c.8406C>T	NM_002016.2	NP_002007.1:p.(His2802=)	NC_000001.10:g.152278956G>A	(Likely) benign	2 labs	21d1a3c528
10:55581921 PCDH15 G>A	10	55581921	55581921	G	A	PCDH15	c.5586C>T	NM_001142763.2	NP_001136235.1:p.(Ala1862=)	NC_000010.10:g.55581921G>A	(Likely) benign	2 labs	21cd34db3a
6:33136319 COL11A2 G>C	6	33136319	33136319	G	C	COL11A2	c.3937C>G	NM_080680.3	NP_542411.2:p.(Pro1313Ala)	NC_000006.11:g.33136319G>C	VUS	2 labs	21df81c679
6:42672298 PRPH2 G>T	6	42672298	42672298	G	T	PRPH2	c.633C>A	NM_000322.5	NP_000313.2:p.(Phe211Leu)	NC_000006.11:g.42672298G>T	(Likely) pathogenic	3 labs	21da4344b6
9:133963101 LAMC3 A>G	9	133963101	133963101	A	G	LAMC3	c.4378-4A>G	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133963101A>G	(Likely) benign	2 labs	21ea1ed791
17:76533410 DNAH17 G>A	17	76533410	76533410	G	A	DNAH17	c.2830C>T	NM_173628.4	NP_775899.3:p.(Arg944Trp)	NC_000017.10:g.76533410G>A	VUS	2 labs	21f615a429
3:114099109 ZBTB20 T>C	3	114099109	114099109	T	C	ZBTB20	c.154A>G	NM_001164342.2	NP_001157814.1:p.(Thr52Ala)	NC_000003.11:g.114099109T>C	(Likely) benign	2 labs	21f7cbab95
2:74689335 MOGS G>T	2	74689335	74689335	G	T	MOGS	c.1581C>A	NM_006302.3	NP_006293.2:p.(Asp527Glu)	NC_000002.11:g.74689335G>T	(Likely) benign	2 labs	21fb619b94
2:202072911 CASP10 G>A	2	202072911	202072911	G	A	CASP10	c.922+5G>A	NM_032977.4	NP_116759.2:p.?	NC_000002.11:g.202072911G>A	(Likely) benign	2 labs	e63705451b
9:139409076 NOTCH1 T>C	9	139409076	139409076	T	C	NOTCH1	c.2093A>G	NM_017617.5	NP_060087.3:p.(Asn698Ser)	NC_000009.11:g.139409076T>C	VUS	2 labs	21fd88c03e
16:8906910 PMM2 G>A	16	8906910	8906910	G	A	PMM2	c.586G>A	NM_000303.2	NP_000294.1:p.(Val196Met)	NC_000016.9:g.8906910G>A	VUS	2 labs	517c9ed202
21:47850417 PCNT G>A	21	47850417	47850417	G	A	PCNT	c.7914-4G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47850417G>A	(Likely) benign	2 labs	2200ead871
X:148586649 IDS C>G	X	148586649	148586649	C	G	IDS	c.19G>C	NM_000202.7	NP_000193.1:p.(Gly7Arg)	NC_000023.10:g.148586649C>G	(Likely) benign	2 labs	220120b8ca
4:79238620 FRAS1 C>T	4	79238620	79238620	C	T	FRAS1	c.1918C>T	NM_025074.7	NP_079350.5:p.(Arg640Cys)	NC_000004.11:g.79238620C>T	(Likely) benign	4 labs	220abe8ba9
8:61765730 CHD7 G>T	8	61765730	61765730	G	T	CHD7				NC_000008.10:g.61765730G>T	(Likely) benign	3 labs	2209d68ada
4:79385635 FRAS1 T>A	4	79385635	79385635	T	A	FRAS1	c.6927T>A	NM_025074.7	NP_079350.5:p.(Asp2309Glu)	NC_000004.11:g.79385635T>A	VUS	3 labs	e63c0b013a
19:42474436 ATP1A3 C>T	19	42474436	42474436	C	T	ATP1A3	c.2443G>A	NM_152296.5	NP_689509.1:p.(Glu815Lys)	NC_000019.9:g.42474436C>T	(Likely) pathogenic	2 labs	221c3d2864
7:21932044 DNAH11 C>T	7	21932044	21932044	C	T	DNAH11	c.12509C>T	NM_001277115.2	NP_001264044.1:p.(Thr4170Ile)	NC_000007.13:g.21932044C>T	(Likely) benign	2 labs	221eb71afd
13:25458232 CPAP AGTT>A	13	25458232	25458238	AGTT	A	CPAP	c.3704-14_3704-12del	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25458236_25458238del	(Likely) benign	2 labs	22279fa0e0
15:76995269 SCAPER C>T	15	76995269	76995269	C	T	SCAPER	c.2340G>A	NM_001353009.2	NP_001339938.1:p.(Gly780=)	NC_000015.9:g.76995269C>T	(Likely) benign	2 labs	2226b47180
2:179391992 TTN A>G	2	179391992	179391992	A	G	TTN	c.107723T>C	NM_001267550.2	NP_001254479.2:p.(Ile35908Thr)	NC_000002.11:g.179391992A>G	VUS	5 labs	e63c1ee62c
X:153296502 MECP2 G>A	X	153296502	153296502	G	A	MECP2	c.777C>T	NM_004992.3	NP_004983.1:p.(Ala259=)	NC_000023.10:g.153296502G>A	(Likely) benign	2 labs	222d04aff7
2:73827928 ALMS1 A>G	2	73827928	73827928	A	G	ALMS1	c.11795A>G	NM_015120.4	NP_055935.4:p.(Glu3932Gly)	NC_000002.11:g.73827928A>G	(Likely) benign	2 labs	222ed2eb2c
6:33143391 COL11A2 G>A	6	33143391	33143391	G	A	COL11A2	c.2336C>T	NM_080680.2	NP_542411.2:p.(Pro779Leu)	NC_000006.11:g.33143391G>A	(Likely) benign	2 labs	2231d05e59
13:32954180 BRCA2 C>T	13	32954180	32954180	C	T	BRCA2	c.9154C>T	NM_000059.4	NP_000050.3:p.(Arg3052Trp)	NC_000013.10:g.32954180C>T	(Likely) pathogenic	7 labs	22381cedf8
21:47540419 COL6A2 C>G	21	47540419	47540419	C	G	COL6A2	c.1333-10C>G	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47540419C>G	(Likely) benign	2 labs	223a6307dd
3:66023892 MAGI1 G>A	3	66023892	66023892	G	A	MAGI1	c.92C>T	NM_015520.1	NP_056335.1:p.(Thr31Met)	NC_000003.11:g.66023892G>A	(Likely) benign	2 labs	223bcad688
3:142281353 ATR C>G	3	142281353	142281353	C	G	ATR	c.891G>C	NM_001184.4	NP_001175.2:p.(Lys297Asn)	NC_000003.11:g.142281353C>G	(Likely) benign	3 labs	223c98e072
19:40741862 AKT2 C>A	19	40741862	40741862	C	A	AKT2	c.1110G>T	NM_001626.5	NP_001617.1:p.(Pro370=)	NC_000019.9:g.40741862C>A	(Likely) benign	3 labs	223cb01594
11:532729 HRAS C>T	11	532729	532729	C	T	HRAS	c.477G>A	NM_005343.2	NP_005334.1:p.(Leu159=)	NC_000011.9:g.532729C>T	(Likely) benign	2 labs	223f5a3143
9:126128293 CRB2 C>T	9	126128293	126128293	C	T	CRB2	c.516C>T	NM_173689.6	NP_775960.4:p.(Cys172=)	NC_000009.11:g.126128293C>T	(Likely) benign	2 labs	224f826ee8
12:13720076 GRIN2B C>T	12	13720076	13720076	C	T	GRIN2B	c.2481G>A	NM_000834.5	NP_000825.2:p.(Ala827=)	NC_000012.11:g.13720076C>T	(Likely) benign	2 labs	22524e0f3d
11:108380281 EXPH5 T>C	11	108380281	108380281	T	C	EXPH5	c.5953A>G	NM_015065.3	NP_055880.2:p.(Lys1985Glu)	NC_000011.9:g.108380281T>C	(Likely) benign	2 labs	2258153aca
11:103058126 DYNC2H1 C>T	11	103058126	103058126	C	T	DYNC2H1	c.6951C>T	NM_001080463.2	NP_001073932.1:p.(His2317=)	NC_000011.9:g.103058126C>T	(Likely) benign	3 labs	225f09a45d
4:88537486 DSPP C>A	4	88537486	88537486	C	A	DSPP	c.3672C>A	NM_014208.3	NP_055023.2:p.(Asp1224Glu)	NC_000004.11:g.88537486C>A	(Likely) benign	2 labs	225e0c6e58
14:23883004 MYH7 G>C	14	23883004	23883004	G	C	MYH7	c.5754C>G	NM_000257.4	NP_000248.2:p.(Asn1918Lys)	NC_000014.8:g.23883004G>C	(Likely) pathogenic	6 labs	e64e991e2a
16:57957194 CNGB1 G>A	16	57957194	57957194	G	A	CNGB1	c.1626C>T	NM_001297.5	NP_001288.3:p.(Thr542=)	NC_000016.9:g.57957194G>A	(Likely) benign	2 labs	225bb72c91
2:170058317 LRP2 T>C	2	170058317	170058317	T	C	LRP2	c.8273A>G	NM_004525.3	NP_004516.2:p.(Tyr2758Cys)	NC_000002.11:g.170058317T>C	VUS	3 labs	22800a1db7
10:16919034 CUBN C>T	10	16919034	16919034	C	T	CUBN	c.8968G>A	NM_001081.3	NP_001072.2:p.(Val2990Ile)	NC_000010.10:g.16919034C>T	(Likely) benign	2 labs	227c6f82de
X:153588207 FLNA G>A	X	153588207	153588207	G	A	FLNA	c.3872C>T	NM_001110556.2	NP_001104026.1:p.(Pro1291Leu)	NC_000023.10:g.153588207G>A	(Likely) benign	2 labs	228401787c
11:65307815 LTBP3 C>T	11	65307815	65307815	C	T	LTBP3	c.3145G>A	NM_001130144.3	NP_001123616.1:p.(Gly1049Arg)	NC_000011.9:g.65307815C>T	VUS	4 labs	227ae22d67
16:88501431 ZNF469 C>A	16	88501431	88501431	C	A	ZNF469	c.7553C>A	NM_001367624.2	NP_001354553.1:p.(Pro2518His)	NC_000016.9:g.88501431C>A	(Likely) benign	3 labs	2283f8cb82
17:59560322 TBX4 G>C	17	59560322	59560322	G	C	TBX4	c.1086G>C	NM_001321120.2	NP_001308049.1:p.(Val362=)	NC_000017.10:g.59560322G>C	(Likely) benign	2 labs	22852e26d7
12:6127833 VWF T>C	12	6127833	6127833	T	C	VWF	c.4751A>G	NM_000552.5	NP_000543.3:p.(Tyr1584Cys)	NC_000012.11:g.6127833T>C	(Likely) pathogenic	5 labs	228e9f6f87
13:51484284 RNASEH2B C>T	13	51484284	51484284	C	T	RNASEH2B	c.64+8C>T	NM_001142279.2	NP_001135751.1:p.?	NC_000013.10:g.51484284C>T	(Likely) benign	2 labs	228cebb23a
2:220283250 DES G>A	2	220283250	220283250	G	A	DES	c.66G>A	NM_001927.3	NP_001918.3:p.(Pro22=)	NC_000002.11:g.220283250G>A	(Likely) benign	2 labs	22950099d7
X:153297660 MECP2 G>T	X	153297660	153297660	G	T	MECP2	c.375C>A	NM_004992.3	NP_004983.1:p.(Ile125=)	NC_000023.10:g.153297660G>T	(Likely) benign	2 labs	22a52e659f
X:129054506 UTP14A C>T	X	129054506	129054506	C	T	UTP14A	c.826C>T	NM_006649.4	NP_006640.2:p.(Pro276Ser)	NC_000023.10:g.129054506C>T	(Likely) benign	2 labs	22a59bb28d
2:21250914 APOB G>A	2	21250914	21250914	G	A	APOB	c.1853C>T	NM_000384.3	NP_000375.3:p.(Ala618Val)	NC_000002.11:g.21250914G>A	(Likely) benign	2 labs	e6574ccb4d
13:102375232 FGF14 C>T	13	102375232	102375232	C	T	FGF14	c.708G>A	NM_175929.2	NP_787125.1:p.(Ala236=)	NC_000013.10:g.102375232C>T	(Likely) benign	2 labs	22b95ceee5
22:51065766 ARSA G>A	22	51065766	51065766	G	A	ARSA	c.293C>T	NM_000487.6	NP_000478.3:p.(Ser98Phe)	NC_000022.10:g.51065766G>A	(Likely) pathogenic	3 labs	e659a8ce24
9:101904939 TGFBR1 G>C	9	101904939	101904939	G	C	TGFBR1	c.927G>C	NM_004612.3	NP_004603.1:p.(Thr309=)	NC_000009.11:g.101904939G>C	(Likely) benign	2 labs	22bcb976f1
9:126136014 CRB2 C>T	9	126136014	126136014	C	T	CRB2	c.3204C>T	NM_173689.6	NP_775960.4:p.(Asp1068=)	NC_000009.11:g.126136014C>T	(Likely) benign	2 labs	22bdbd39fd
20:31388740 DNMT3B C>T	20	31388740	31388740	C	T	DNMT3B	c.1996+9C>T	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31388740C>T	(Likely) benign	3 labs	22c35e9c38
21:47614451 LSS G>A	21	47614451	47614451	G	A	LSS	c.1702C>T	NM_001145437.1	NP_001138909.1:p.(Gln568Ter)	NC_000021.8:g.47614451G>A	VUS	2 labs	22c7438c72
1:68897001 RPE65 C>G	1	68897001	68897001	C	G	RPE65	c.1302G>C	NM_000329.3	NP_000320.1:p.(Ala434=)	NC_000001.10:g.68897001C>G	(Likely) benign	2 labs	22c12dd018
X:153582980 FLNA G>A	X	153582980	153582980	G	A	FLNA	c.5313+4C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153582980G>A	(Likely) benign	2 labs	22dadbd269
6:152640092 SYNE1 C>T	6	152640092	152640092	C	T	SYNE1	c.16295G>A	NM_182961.3	NP_892006.3:p.(Arg5432Gln)	NC_000006.11:g.152640092C>T	(Likely) benign	2 labs	22dd247bd7
19:45860760 ERCC2 C>T	19	45860760	45860760	C	T	ERCC2	c.1349G>A	NM_000400.3	NP_000391.1:p.(Arg450His)	NC_000019.9:g.45860760C>T	VUS	2 labs	22df61342b
12:8670815 CLEC4D G>A	12	8670815	8670815	G	A	CLEC4D	c.177G>A	NM_080387.5	NP_525126.2:p.(Glu59=)	NC_000012.11:g.8670815G>A	(Likely) benign	2 labs	22df97a07c
10:104263959 SUFU C>T	10	104263959	104263959	C	T	SUFU	c.50C>T	NM_016169.4	NP_057253.2:p.(Ala17Val)	NC_000010.10:g.104263959C>T	VUS	2 labs	e66dc9118e
12:7242740 C1R C>G	12	7242740	7242740	C	G	C1R	c.336G>C	NM_001733.7	NP_001724.4:p.(Met112Ile)	NC_000012.11:g.7242740C>G	(Likely) benign	3 labs	e66e9fb81d
11:2416210 CD81 C>T	11	2416210	2416210	C	T	CD81	c.288C>T	NM_004356.3	NP_004347.1:p.(Thr96=)	NC_000011.9:g.2416210C>T	(Likely) benign	2 labs	22f0daa574
2:234669607 UGT1A1 T>G	2	234669607	234669607	T	G	UGT1A1	c.674T>G	NM_000463.2	NP_000454.1:p.(Val225Gly)	NC_000002.11:g.234669607T>G	(Likely) pathogenic	2 labs	22f4f2f07a
14:105412543 AHNAK2 T>TGC	14	105412543	105412544	T	TGC	AHNAK2	c.9244_9245insGC	NM_138420.3	NP_612429.2:p.(Asp3082GlyfsTer10)	NC_000014.8:g.105412543_105412544insGC	VUS	2 labs	22f51a995b
X:37587488 XK T>G	X	37587488	37587488	T	G	XK	c.1108T>G	NM_021083.4	NP_066569.1:p.(Tyr370Asp)	NC_000023.10:g.37587488T>G	(Likely) benign	3 labs	22fed04e0e
14:76548670 IFT43 C>T	14	76548670	76548670	C	T	IFT43	c.343C>T	NM_052873.2	NP_443105.2:p.(Gln115Ter)	NC_000014.8:g.76548670C>T	(Likely) pathogenic	2 labs	2322c88f9a
16:57486843 COQ9 G>C	16	57486843	57486843	G	C	COQ9	c.373G>C	NM_020312.3	NP_064708.1:p.(Ala125Pro)	NC_000016.9:g.57486843G>C	VUS	2 labs	232a1fa605
10:72195439 NODAL T>C	10	72195439	72195439	T	C	NODAL	c.494A>G	NM_018055.4	NP_060525.3:p.(His165Arg)	NC_000010.10:g.72195439T>C	(Likely) benign	2 labs	23306aaa2f
X:107978052 IRS4 T>C	X	107978052	107978052	T	C	IRS4	c.1523A>G	NM_003604.2	NP_003595.1:p.(Asn508Ser)	NC_000023.10:g.107978052T>C	(Likely) benign	3 labs	2328616d9b
7:117292919 CFTR A>G	7	117292919	117292919	A	G	CFTR	c.3897A>G	NM_000492.4	NP_000483.3:p.(Thr1299=)	NC_000007.13:g.117292919A>G	(Likely) benign	4 labs	23402d8eaf
12:22063251 ABCC9 C>CA	12	22063251	22063265	C	CA	ABCC9	c.1165-6dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063265dup	(Likely) benign	6 labs	e6830cec79
13:32914712 BRCA2 C>A	13	32914712	32914712	C	A	BRCA2	c.6220C>A	NM_000059.4	NP_000050.3:p.(His2074Asn)	NC_000013.10:g.32914712C>A	(Likely) benign	5 labs	23491896ce
20:31389142 DNMT3B G>A	20	31389142	31389142	G	A	DNMT3B	c.2055G>A	NM_006892.3	NP_008823.1:p.(Lys685=)	NC_000020.10:g.31389142G>A	(Likely) benign	2 labs	2351a3116e
X:63565044 MTMR8 G>A	X	63565044	63565044	G	A	MTMR8	c.746C>T	NM_017677.3	NP_060147.2:p.(Ala249Val)	NC_000023.10:g.63565044G>A	(Likely) benign	2 labs	236347dde3
2:215851290 ABCA12 T>C	2	215851290	215851290	T	C	ABCA12	c.4139A>G	NM_173076.2	NP_775099.2:p.(Asn1380Ser)	NC_000002.11:g.215851290T>C	(Likely) pathogenic	2 labs	2363c9692d
8:30938692 WRN G>T	8	30938692	30938692	G	T	WRN	c.1149G>T	NM_000553.4	NP_000544.2:p.(Leu383Phe)	NC_000008.10:g.30938692G>T	(Likely) benign	2 labs	2364c961d4
17:76129615 TMC8 T>C	17	76129615	76129615	T	C	TMC8	c.660T>C	NM_152468.4	NP_689681.2:p.(Thr220=)	NC_000017.10:g.76129615T>C	(Likely) benign	2 labs	236546e2a9
7:21939618 DNAH11 C>T	7	21939618	21939618	C	T	DNAH11				NC_000007.13:g.21939618C>T	(Likely) pathogenic	2 labs	2366bdd4fd
15:80472561 FAH C>T	15	80472561	80472561	C	T	FAH	c.1056C>T	NM_000137.4	NP_000128.1:p.(Ser352=)	NC_000015.9:g.80472561C>T	(Likely) benign	2 labs	e68da98f05
1:235922895 LYST C>T	1	235922895	235922895	C	T	LYST	c.6258G>A	NM_001301365.1	NP_001288294.1:p.(Glu2086=)	NC_000001.10:g.235922895C>T	(Likely) benign	2 labs	2370fd8541
11:36594990 RAG1 CA>C	11	36594990	36594994	CA	C	RAG1	c.140del	NM_000448.3	NP_000439.2:p.(Lys47ArgfsTer35)	NC_000011.9:g.36594994del	(Likely) pathogenic	3 labs	237c712970
10:50679030 ERCC6 T>C	10	50679030	50679030	T	C	ERCC6	c.3061A>G	NM_000124.4	NP_000115.1:p.(Ile1021Val)	NC_000010.10:g.50679030T>C	VUS	2 labs	2381c52cf0
3:123444833 MYLK C>T	3	123444833	123444833	C	T	MYLK	c.1609G>A	NM_053025.3	NP_444253.3:p.(Val537Ile)	NC_000003.11:g.123444833C>T	(Likely) benign	2 labs	2382211b41
16:27454356 IL21R C>T	16	27454356	27454356	C	T	IL21R	c.492C>T	NM_181079.4	NP_851565.4:p.(Tyr164=)	NC_000016.9:g.27454356C>T	(Likely) benign	2 labs	238593c828
17:73827335 UNC13D T>G	17	73827335	73827335	T	G	UNC13D	c.2542A>C	NM_199242.3	NP_954712.1:p.(Ile848Leu)	NC_000017.10:g.73827335T>G	(Likely) benign	3 labs	2389d5a9fb
3:155571651 SLC33A1 C>T	3	155571651	155571651	C	T	SLC33A1	c.136G>A	NM_004733.3	NP_004724.1:p.(Glu46Lys)	NC_000003.11:g.155571651C>T	(Likely) benign	3 labs	238ce4a9ee
1:1273790 DVL1 T>C	1	1273790	1273790	T	C	DVL1	c.1366A>G	NM_001330311.2	NP_001317240.1:p.(Thr456Ala)	NC_000001.10:g.1273790T>C	(Likely) benign	2 labs	238e628acc
13:102375289 FGF14 A>G	13	102375289	102375289	A	G	FGF14	c.384T>C	NM_001321949.1	NP_001308878.1:p.(His128=)	NC_000013.10:g.102375289A>G	(Likely) benign	2 labs	2390ef31b5
2:191904022 STAT4 G>A	2	191904022	191904022	G	A	STAT4	c.1337C>T	NM_003151.4	NP_003142.1:p.(Thr446Ile)	NC_000002.11:g.191904022G>A	VUS	2 labs	e68f74a199
8:100654424 VPS13B C>T	8	100654424	100654424	C	T	VPS13B	c.5681C>T	NM_017890.5	NP_060360.3:p.(Thr1894Met)	NC_000008.10:g.100654424C>T	(Likely) benign	4 labs	23996e48df
17:73836897 UNC13D A>C	17	73836897	73836897	A	C	UNC13D	c.629T>G	NM_199242.3	NP_954712.1:p.(Val210Gly)	NC_000017.10:g.73836897A>C	(Likely) benign	2 labs	23a1e9d675
1:216138781 USH2A A>G	1	216138781	216138781	A	G	USH2A	c.6998T>C	NM_206933.2	NP_996816.2:p.(Val2333Ala)	NC_000001.10:g.216138781A>G	VUS	2 labs	23b01639c1
9:129455567 LMX1B G>C	9	129455567	129455567	G	C	LMX1B	c.706G>C	NM_002316.4	NP_002307.2:p.(Ala236Pro)	NC_000009.11:g.129455567G>C	(Likely) pathogenic	2 labs	e692b7a00c
1:57383291 C8A G>A	1	57383291	57383291	G	A	C8A	c.1657G>A	NM_000562.2	NP_000553.1:p.(Ala553Thr)	NC_000001.10:g.57383291G>A	(Likely) benign	2 labs	23b9a18b30
11:6661149 DCHS1 C>T	11	6661149	6661149	C	T	DCHS1	c.1696G>A	NM_003737.4	NP_003728.1:p.(Val566Met)	NC_000011.9:g.6661149C>T	VUS	2 labs	23db190b8d
7:94043274 COL1A2 A>G	7	94043274	94043274	A	G	COL1A2	c.1665+15A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94043274A>G	(Likely) benign	2 labs	e6985ee30a
14:50585109 SOS2 G>A	14	50585109	50585109	G	A	SOS2	c.3952C>T	NM_006939.4	NP_008870.2:p.(Pro1318Ser)	NC_000014.8:g.50585109G>A	(Likely) benign	2 labs	e699d74ae1
9:35062972 VCP C>T	9	35062972	35062972	C	T	VCP	c.811+3G>A	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35062972C>T	(Likely) benign	5 labs	23dcab4b9f
3:129210977 IFT122 G>C	3	129210977	129210977	G	C	IFT122	c.2146-7G>C	NM_052985.4	NP_443711.2:p.?	NC_000003.11:g.129210977G>C	(Likely) benign	2 labs	23e18b7563
12:22063737 ABCC9 G>T	12	22063737	22063737	G	T	ABCC9	c.1164+23C>A	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22063737G>T	(Likely) benign	2 labs	23deff5d06
15:90633757 IDH2 C>T	15	90633757	90633757	C	T	IDH2	c.327G>A	NM_002168.3	NP_002159.2:p.(Val109=)	NC_000015.9:g.90633757C>T	(Likely) benign	2 labs	23e835907a
18:21124945 NPC1 C>G	18	21124945	21124945	C	G	NPC1	c.1926G>C	NM_000271.5	NP_000262.2:p.(Met642Ile)	NC_000018.9:g.21124945C>G	(Likely) benign	3 labs	e69d8daf89
X:15864026 AP1S2 A>G	X	15864026	15864026	A	G	AP1S2	c.288T>C	NM_001272071.1	NP_001259000.1:p.(Ser96=)	NC_000023.10:g.15864026A>G	(Likely) benign	2 labs	23eda84c47
1:19559157 EMC1 G>A	1	19559157	19559157	G	A	EMC1	c.1743C>T	NM_015047.3	NP_055862.1:p.(Phe581=)	NC_000001.10:g.19559157G>A	(Likely) benign	2 labs	23eaf2e1a5
22:18567938 PEX26 C>T	22	18567938	18567938	C	T	PEX26	c.728C>T	NM_001127649.2	NP_001121121.1:p.(Ala243Val)	NC_000022.10:g.18567938C>T	(Likely) benign	2 labs	23f46e3bd1
14:102900798 TECPR2 T>G	14	102900798	102900798	T	G	TECPR2	c.1644T>G	NM_014844.4	NP_055659.2:p.(Asn548Lys)	NC_000014.8:g.102900798T>G	(Likely) benign	2 labs	2403c6fcfb
8:30921954 WRN G>C	8	30921954	30921954	G	C	WRN	c.355+4G>C	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30921954G>C	(Likely) benign	2 labs	240b4568d7
19:36558195 WDR62 C>T	19	36558195	36558195	C	T	WDR62	c.562-13C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36558195C>T	(Likely) benign	2 labs	240ea98617
X:135427828 ADGRG4 A>G	X	135427828	135427828	A	G	ADGRG4	c.1963A>G	NM_153834.3	NP_722576.3:p.(Ile655Val)	NC_000023.10:g.135427828A>G	(Likely) benign	2 labs	2415be9da2
5:138463538 SIL1 G>C	5	138463538	138463538	G	C	SIL1	c.-6C>G	NM_001037633.1	NP_001032722.1:p.?	NC_000005.9:g.138463538G>C	(Likely) benign	2 labs	241a40e69d
13:32936842 BRCA2 G>A	13	32936842	32936842	G	A	BRCA2	c.7976+12G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936842G>A	(Likely) benign	2 labs	241be5b75c
17:45012488 GOSR2 G>T	17	45012488	45012488	G	T	GOSR2	c.430G>T	NM_004287.5	NP_004278.2:p.(Gly144Trp)	NC_000017.10:g.45012488G>T	(Likely) pathogenic	4 labs	241ebfe632
4:15995677 PROM1 C>CT	4	15995677	15995678	C	CT	PROM1	c.1672dup	NM_001145847.1	NP_001139319.1:p.(Arg558LysfsTer17)	NC_000004.11:g.15995678dup	(Likely) pathogenic	2 labs	242bc5e1db
22:32881102 FBXO7 C>T	22	32881102	32881102	C	T	FBXO7	c.693C>T	NM_012179.4	NP_036311.3:p.(Ser231=)	NC_000022.10:g.32881102C>T	(Likely) benign	3 labs	e6a28fc952
16:88782477 PIEZO1 C>T	16	88782477	88782477	C	T	PIEZO1	c.7180G>A	NM_001142864.4	NP_001136336.2:p.(Gly2394Ser)	NC_000016.9:g.88782477C>T	(Likely) benign	3 labs	243cc2b0e3
9:98240450 PTCH1 C>A	9	98240450	98240450	C	A	PTCH1	c.1234G>T	NM_000264.5	NP_000255.2:p.(Ala412Ser)	NC_000009.11:g.98240450C>A	(Likely) benign	2 labs	243f9f6494
8:43052991 HGSNAT C>T	8	43052991	43052991	C	T	HGSNAT	c.1622C>T	NM_152419.2	NP_689632.2:p.(Ser541Leu)	NC_000008.10:g.43052991C>T	(Likely) pathogenic	2 labs	243fbea508
8:119123164 EXT1 C>T	8	119123164	119123164	C	T	EXT1	c.122G>A	NM_000127.3	NP_000118.2:p.(Ser41Asn)	NC_000008.10:g.119123164C>T	(Likely) benign	2 labs	2447bb466e
19:6681946 C3 C>G	19	6681946	6681946	C	G	C3	c.4350+6G>C	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6681946C>G	(Likely) benign	2 labs	244cdf8655
12:66786269 GRIP1 C>T	12	66786269	66786269	C	T	GRIP1	c.2283G>A	NM_001366722.1	NP_001353651.1:p.(Ser761=)	NC_000012.11:g.66786269C>T	(Likely) benign	2 labs	244fd3b0e4
19:4544349 SEMA6B G>A	19	4544349	4544349	G	A	SEMA6B	c.1931C>T	NM_032108.4	NP_115484.2:p.(Ala644Val)	NC_000019.9:g.4544349G>A	VUS	2 labs	e6a4e8d5bf
8:6479161 MCPH1 A>G	8	6479161	6479161	A	G	MCPH1	c.2401A>G	NM_024596.4	NP_078872.2:p.(Ser801Gly)	NC_000008.10:g.6479161A>G	(Likely) benign	2 labs	245c43045e
4:187510038 FAT1 T>C	4	187510038	187510038	T	C	FAT1	c.13475A>G	NM_005245.3	NP_005236.2:p.(Asn4492Ser)	NC_000004.11:g.187510038T>C	(Likely) benign	2 labs	245dc52fcc
3:128780764 GP9 A>G	3	128780764	128780764	A	G	GP9	c.182A>G	NM_000174.4	NP_000165.1:p.(Asn61Ser)	NC_000003.11:g.128780764A>G	(Likely) pathogenic	4 labs	246296890c
16:2160332 PKD1 C>T	16	2160332	2160332	C	T	PKD1	c.4836G>A	NM_001009944.2	NP_001009944.2:p.(Thr1612=)	NC_000016.9:g.2160332C>T	(Likely) benign	3 labs	2467b26bab
15:68506711 CLN6 C>G	15	68506711	68506711	C	G	CLN6	c.214G>C	NM_017882.2	NP_060352.1:p.(Glu72Gln)	NC_000015.9:g.68506711C>G	(Likely) benign	3 labs	246b004a05
2:47703631 MSH2 C>T	2	47703631	47703631	C	T	MSH2	c.2131C>T	NM_000251.2	NP_000242.1:p.(Arg711Ter)	NC_000002.11:g.47703631C>T	(Likely) pathogenic	2 labs	247fa08729
3:9515043 SETD5 G>A	3	9515043	9515043	G	A	SETD5	c.3319G>A	NM_001080517.2	NP_001073986.1:p.(Val1107Ile)	NC_000003.11:g.9515043G>A	(Likely) benign	2 labs	248048d817
19:13445208 CACNA1A C>T	19	13445208	13445208	C	T	CACNA1A	c.1182G>A	NM_023035.3	NP_075461.2:p.(Glu394=)	NC_000019.9:g.13445208C>T	(Likely) benign	3 labs	248ae525bc
5:55259967 IL6ST T>TA	5	55259967	55259969	T	TA	IL6ST	c.658+6dup	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55259969dup	(Likely) benign	2 labs	2488cd4d63
7:117375432 CTTNBP2 G>T	7	117375432	117375432	G	T	CTTNBP2	c.3579C>A	NM_033427.2	NP_219499.1:p.(Ile1193=)	NC_000007.13:g.117375432G>T	(Likely) benign	2 labs	248b62917c
21:46330190 ITGB2 G>A	21	46330190	46330190	G	A	ITGB2	c.147+9C>T	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46330190G>A	(Likely) benign	2 labs	2498b5b46d
6:112435264 LAMA4 T>G	6	112435264	112435264	T	G	LAMA4	c.5326+15A>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112435264T>G	(Likely) benign	3 labs	249b46a749
1:216348764 USH2A C>T	1	216348764	216348764	C	T	USH2A	c.4457G>A	NM_206933.4	NP_996816.3:p.(Arg1486Lys)	NC_000001.10:g.216348764C>T	(Likely) benign	2 labs	249da1cf20
8:42176802 IKBKB G>A	8	42176802	42176802	G	A	IKBKB	c.1379G>A	NM_001556.3	NP_001547.1:p.(Arg460Gln)	NC_000008.10:g.42176802G>A	VUS	2 labs	24a913309e
8:42977726 POMK C>T	8	42977726	42977726	C	T	POMK	c.759C>T	NM_032237.5	NP_115613.1:p.(Phe253=)	NC_000008.10:g.42977726C>T	(Likely) benign	2 labs	24af51bb53
6:108375686 OSTM1 T>C	6	108375686	108375686	T	C	OSTM1	c.615+8A>G	NM_014028.3	NP_054747.2:p.?	NC_000006.11:g.108375686T>C	(Likely) benign	2 labs	24b7373a94
12:106820975 POLR3B C>CTT	12	106820975	106820979	C	CTT	POLR3B	c.1105_1106dup	NM_018082.5	NP_060552.4:p.(Leu369PhefsTer17)	NC_000012.11:g.106820978_106820979dup	(Likely) benign	2 labs	24b8d195cd
17:78184621 SGSH T>C	17	78184621	78184621	T	C	SGSH	c.1139A>G	NM_000199.4	NP_000190.1:p.(Gln380Arg)	NC_000017.10:g.78184621T>C	(Likely) pathogenic	2 labs	24d15b32c6
X:31747755 DMD C>T	X	31747755	31747755	C	T	DMD	c.7284G>A	NM_004010.3	NP_004001.1:p.(Thr2428=)	NC_000023.10:g.31747755C>T	(Likely) benign	4 labs	24d09786fc
11:63987413 FERMT3 A>G	11	63987413	63987413	A	G	FERMT3	c.1142A>G	NM_178443.2	NP_848537.1:p.(Lys381Arg)	NC_000011.9:g.63987413A>G	VUS	2 labs	24d6b9bde2
12:14018915 GRIN2B G>A	12	14018915	14018915	G	A	GRIN2B	c.228C>T	NM_000834.5	NP_000825.2:p.(Thr76=)	NC_000012.11:g.14018915G>A	(Likely) benign	2 labs	24d6cdaa82
13:32913778 BRCA2 T>A	13	32913778	32913778	T	A	BRCA2	c.5286T>A	NM_000059.4	NP_000050.3:p.(Tyr1762Ter)	NC_000013.10:g.32913778T>A	(Likely) pathogenic	4 labs	24e455c1f5
17:48264403 COL1A1 G>A	17	48264403	48264403	G	A	COL1A1	c.3504C>T	NM_000088.4	NP_000079.2:p.(Arg1168=)	NC_000017.10:g.48264403G>A	(Likely) benign	2 labs	24edca2514
X:24043179 KLHL15 G>A	X	24043179	24043179	G	A	KLHL15	c.-209-4C>T	NM_030624.3	NP_085127.2:p.?	NC_000023.10:g.24043179G>A	(Likely) benign	3 labs	24f382ecaa
1:17313448 ATP13A2 G>A	1	17313448	17313448	G	A	ATP13A2	c.3087C>T	NM_022089.4	NP_071372.1:p.(Phe1029=)	NC_000001.10:g.17313448G>A	(Likely) benign	2 labs	24f6bd53e9
10:112557267 RBM20 T>C	10	112557267	112557267	T	C	RBM20	c.1529T>C	NM_001134363.3	NP_001127835.2:p.(Phe510Ser)	NC_000010.10:g.112557267T>C	(Likely) benign	3 labs	e6bebfeb2d
17:8133622 CTC1 T>C	17	8133622	8133622	T	C	CTC1	c.2923A>G	NM_025099.6	NP_079375.3:p.(Arg975Gly)	NC_000017.10:g.8133622T>C	(Likely) pathogenic	3 labs	2509312f7c
3:142281252 ATR T>C	3	142281252	142281252	T	C	ATR	c.992A>G	NM_001184.3	NP_001175.2:p.(Asp331Gly)	NC_000003.11:g.142281252T>C	(Likely) benign	2 labs	251f2b15d5
22:50304192 ALG12 C>T	22	50304192	50304192	C	T	ALG12	c.359G>A	NM_024105.3	NP_077010.1:p.(Arg120Gln)	NC_000022.10:g.50304192C>T	(Likely) benign	2 labs	251f4dc23c
1:197070776 ASPM C>T	1	197070776	197070776	C	T	ASPM	c.7605G>A	NM_018136.5	NP_060606.3:p.(Val2535=)	NC_000001.10:g.197070776C>T	(Likely) benign	3 labs	2528ad9809
19:33902589 PEPD A>T	19	33902589	33902589	A	T	PEPD	c.807T>A	NM_000285.3	NP_000276.2:p.(Asn269Lys)	NC_000019.9:g.33902589A>T	(Likely) benign	2 labs	252959a7c5
10:75865065 VCL G>A	10	75865065	75865065	G	A	VCL	c.2388G>A	NM_014000.3	NP_054706.1:p.(Pro796=)	NC_000010.10:g.75865065G>A	(Likely) benign	4 labs	252dab20c7
3:129252546 RHO G>C	3	129252546	129252546	G	C	RHO	c.1032G>C	NM_000539.3	NP_000530.1:p.(Gln344His)	NC_000003.11:g.129252546G>C	VUS	2 labs	2530ca9b82
16:11000417 CIITA G>A	16	11000417	11000417	G	A	CIITA	c.1071G>A	NM_001286402.1	NP_001273331.1:p.(Pro357=)	NC_000016.9:g.11000417G>A	(Likely) benign	2 labs	25337ea887
11:64527223 PYGM G>A	11	64527223	64527223	G	A	PYGM	c.148C>T	NM_001164716.1	NP_001158188.1:p.(Arg50Ter)	NC_000011.9:g.64527223G>A	(Likely) pathogenic	3 labs	253acdc357
2:44547487 SLC3A1 C>T	2	44547487	44547487	C	T	SLC3A1	c.1767C>T	NM_000341.3	NP_000332.2:p.(Ile589=)	NC_000002.11:g.44547487C>T	(Likely) benign	2 labs	253c453bfa
21:35821791 KCNE1 G>A	21	35821791	35821791	G	A	KCNE1	c.142C>T	NM_000219.6	NP_000210.2:p.(Leu48Phe)	NC_000021.8:g.35821791G>A	VUS	5 labs	2548ce7877
2:227920748 COL4A4 G>A	2	227920748	227920748	G	A	COL4A4	c.2629C>T	NM_000092.4	NP_000083.3:p.(Arg877Trp)	NC_000002.11:g.227920748G>A	(Likely) benign	2 labs	255b6d5920
8:100887863 VPS13B A>AAAAT	8	100887863	100887870	A	AAAAT	VPS13B	c.12042_12045dup	NM_017890.4	NP_060360.3:p.(Ala4016Ter)	NC_000008.10:g.100887867_100887870dup	VUS	2 labs	2560f889bd
16:1260047 CACNA1H C>T	16	1260047	1260047	C	T	CACNA1H	c.3757C>T	NM_021098.2	NP_066921.2:p.(Arg1253Cys)	NC_000016.9:g.1260047C>T	VUS	2 labs	25645fbc99
17:42084067 NAGS T>C	17	42084067	42084067	T	C	NAGS	c.1086T>C	NM_153006.3	NP_694551.1:p.(Phe362=)	NC_000017.10:g.42084067T>C	(Likely) benign	2 labs	256a11eff9
13:23908034 SACS A>G	13	23908034	23908034	A	G	SACS	c.9981T>C	NM_014363.5	NP_055178.3:p.(Ala3327=)	NC_000013.10:g.23908034A>G	(Likely) benign	2 labs	256ddd8b80
11:22232851 ANO5 A>G	11	22232851	22232851	A	G	ANO5	c.129A>G	NM_213599.3	NP_998764.1:p.(Glu43=)	NC_000011.9:g.22232851A>G	(Likely) benign	2 labs	2572449fe6
13:32921033 BRCA2 G>A	13	32921033	32921033	G	A	BRCA2	c.7007G>A	NM_000059.4	NP_000050.3:p.(Arg2336His)	NC_000013.10:g.32921033G>A	(Likely) pathogenic	5 labs	e6d4ca3dd1
2:170088296 LRP2 C>G	2	170088296	170088296	C	G	LRP2	c.5155G>C	NM_004525.3	NP_004516.2:p.(Gly1719Arg)	NC_000002.11:g.170088296C>G	(Likely) benign	2 labs	2573d182fa
8:100871721 VPS13B G>A	8	100871721	100871721	G	A	VPS13B	c.11119+13G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100871721G>A	(Likely) benign	2 labs	25793bf504
10:75802831 VCL C>G	10	75802831	75802831	C	G	VCL	c.169-10C>G	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75802831C>G	(Likely) benign	2 labs	25733dfc27
4:126238924 FAT4 A>T	4	126238924	126238924	A	T	FAT4	c.1358A>T	NM_001291303.3	NP_001278232.1:p.(Gln453Leu)	NC_000004.11:g.126238924A>T	(Likely) benign	2 labs	2575e66005
19:38968499 RYR1 C>T	19	38968499	38968499	C	T	RYR1	c.4443C>T	NM_000540.2	NP_000531.2:p.(Asn1481=)	NC_000019.9:g.38968499C>T	(Likely) benign	3 labs	25817233ae
X:72797283 CHIC1 G>A	X	72797283	72797283	G	A	CHIC1	c.337G>A	NM_001039840.3	NP_001034929.2:p.(Val113Ile)	NC_000023.10:g.72797283G>A	(Likely) benign	2 labs	258400de56
6:146755515 GRM1 T>G	6	146755515	146755515	T	G	GRM1	c.3168T>G	NM_001278064.2	NP_001264993.1:p.(Gly1056=)	NC_000006.11:g.146755515T>G	(Likely) benign	2 labs	258646535b
1:45294081 PTCH2 G>A	1	45294081	45294081	G	A	PTCH2	c.1596C>T	NM_001166292.1	NP_001159764.1:p.(Ala532=)	NC_000001.10:g.45294081G>A	(Likely) benign	2 labs	2588c3f8ad
2:179632509 TTN G>A	2	179632509	179632509	G	A	TTN	c.9448C>T	NM_001267550.2	NP_001254479.2:p.(Arg3150Ter)	NC_000002.11:g.179632509G>A	(Likely) pathogenic	3 labs	e6dd9f35bc
22:41548317 EP300 C>T	22	41548317	41548317	C	T	EP300	c.3105C>T	NM_001429.3	NP_001420.2:p.(Thr1035=)	NC_000022.10:g.41548317C>T	(Likely) benign	2 labs	25982a30d5
3:142272098 ATR A>G	3	142272098	142272098	A	G	ATR	c.2776T>C	NM_001184.3	NP_001175.2:p.(Phe926Leu)	NC_000003.11:g.142272098A>G	(Likely) benign	3 labs	259a821087
17:29422328 NF1 A>G	17	29422328	29422328	A	G	NF1	c.1A>G	NM_000267.3	NP_000258.1:p.(Met1?)	NC_000017.10:g.29422328A>G	(Likely) pathogenic	2 labs	259a960c0b
15:49083481 CEP152 T>G	15	49083481	49083481	T	G	CEP152	c.925A>C	NM_001194998.1	NP_001181927.1:p.(Lys309Gln)	NC_000015.9:g.49083481T>G	(Likely) benign	2 labs	25a1b2e20b
4:187549636 FAT1 G>A	4	187549636	187549636	G	A	FAT1	c.4599+6C>T	NM_005245.3	NP_005236.2:p.?	NC_000004.11:g.187549636G>A	(Likely) benign	3 labs	25a5318465
8:19813384 LPL C>T	8	19813384	19813384	C	T	LPL	c.808C>T	NM_000237.3	NP_000228.1:p.(Arg270Cys)	NC_000008.10:g.19813384C>T	(Likely) pathogenic	2 labs	e6e1bba4fc
3:14183150 TMEM43 T>C	3	14183150	14183150	T	C	TMEM43	c.1058T>C	NM_024334.3	NP_077310.1:p.(Phe353Ser)	NC_000003.11:g.14183150T>C	VUS	2 labs	e6e1ee6612
21:47786817 PCNT C>G	21	47786817	47786817	C	G	PCNT	c.2928C>G	NM_006031.6	NP_006022.3:p.(Leu976=)	NC_000021.8:g.47786817C>G	(Likely) benign	2 labs	25ab057c6d
10:97380941 ALDH18A1 G>A	10	97380941	97380941	G	A	ALDH18A1	c.1314C>T	NM_001323413.1	NP_001310342.1:p.(Ile438=)	NC_000010.10:g.97380941G>A	(Likely) benign	2 labs	25acca1ee4
14:90455454 TDP1 G>A	14	90455454	90455454	G	A	TDP1	c.1317+20G>A	NM_018319.4	NP_060789.2:p.?	NC_000014.8:g.90455454G>A	(Likely) benign	2 labs	25b02180fc
11:71146508 DHCR7 G>A	11	71146508	71146508	G	A	DHCR7	c.1341C>T	NM_001360.2	NP_001351.2:p.(Asp447=)	NC_000011.9:g.71146508G>A	(Likely) benign	2 labs	25b947da4a
9:390512 DOCK8 C>T	9	390512	390512	C	T	DOCK8	c.2916C>T	NM_203447.4	NP_982272.2:p.(Thr972=)	NC_000009.11:g.390512C>T	(Likely) benign	2 labs	e6e412c1f6
20:62309611 RTEL1 C>T	20	62309611	62309611	C	T	RTEL1	c.959-10C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62309611C>T	(Likely) benign	2 labs	25b9ff9659
20:2844679 VPS16 G>A	20	2844679	2844679	G	A	VPS16	c.1561G>A	NM_022575.4	NP_072097.2:p.(Asp521Asn)	NC_000020.10:g.2844679G>A	(Likely) benign	2 labs	25bbca25ef
17:48269160 COL1A1 C>T	17	48269160	48269160	C	T	COL1A1	c.2116G>A	NM_000088.3	NP_000079.2:p.(Asp706Asn)	NC_000017.10:g.48269160C>T	VUS	3 labs	25bfea7688
1:169512093 F5 A>G	1	169512093	169512093	A	G	F5	c.2235T>C	NM_000130.5	NP_000121.2:p.(Asn745=)	NC_000001.10:g.169512093A>G	(Likely) benign	2 labs	e6e912ce7f
1:39893675 MACF1 C>G	1	39893675	39893675	C	G	MACF1	c.10333C>G	NM_012090.5	NP_036222.3:p.(Gln3445Glu)	NC_000001.10:g.39893675C>G	(Likely) benign	2 labs	25df17febf
4:1807840 FGFR3 C>T	4	1807840	1807840	C	T	FGFR3	c.1899C>T	NM_000142.4	NP_000133.1:p.(Ile633=)	NC_000004.11:g.1807840C>T	(Likely) benign	2 labs	25e0332466
4:146567309 MMAA G>A	4	146567309	146567309	G	A	MMAA	c.733+1G>A	NM_172250.3	NP_758454.1:p.?	NC_000004.11:g.146567309G>A	(Likely) pathogenic	2 labs	25e51923a8
1:78383301 NEXN T>C	1	78383301	78383301	T	C	NEXN	c.78T>C	NM_144573.4	NP_653174.3:p.(Leu26=)	NC_000001.10:g.78383301T>C	(Likely) benign	3 labs	25db482e06
13:32906593 BRCA2 C>A	13	32906593	32906593	C	A	BRCA2	c.978C>A	NM_000059.4	NP_000050.3:p.(Ser326Arg)	NC_000013.10:g.32906593C>A	(Likely) benign	7 labs	25e6217862
1:160106732 ATP1A2 G>A	1	160106732	160106732	G	A	ATP1A2				NC_000001.10:g.160106732G>A	(Likely) benign	3 labs	25e8c1f033
2:152476229 NEB G>A	2	152476229	152476229	G	A	NEB	c.10608C>T	NM_001271208.1	NP_001258137.1:p.(Gly3536=)	NC_000002.11:g.152476229G>A	(Likely) benign	2 labs	25ea400aa3
8:94794635 TMEM67 A>G	8	94794635	94794635	A	G	TMEM67	c.1078A>G	NM_153704.5	NP_714915.3:p.(Thr360Ala)	NC_000008.10:g.94794635A>G	VUS	2 labs	25eaf84b11
17:56356914 MPO T>C	17	56356914	56356914	T	C	MPO	c.518A>G	NM_000250.2	NP_000241.1:p.(Tyr173Cys)	NC_000017.10:g.56356914T>C	(Likely) pathogenic	3 labs	e6ea23cee8
5:89943433 ADGRV1 A>G	5	89943433	89943433	A	G	ADGRV1	c.3141A>G	NM_032119.4	NP_115495.3:p.(Ala1047=)	NC_000005.9:g.89943433A>G	(Likely) benign	2 labs	e6edafcdd5
4:5749961 EVC G>C	4	5749961	5749961	G	C	EVC	c.1026G>C	NM_153717.3	NP_714928.1:p.(Leu342=)	NC_000004.11:g.5749961G>C	(Likely) benign	2 labs	e6f42784e2
1:152285648 FLG G>A	1	152285648	152285648	G	A	FLG	c.1714C>T	NM_002016.2	NP_002007.1:p.(Arg572Ter)	NC_000001.10:g.152285648G>A	(Likely) pathogenic	3 labs	2604b40c52
2:47656951 MSH2 C>T	2	47656951	47656951	C	T	MSH2	c.1147C>T	NM_000251.2	NP_000242.1:p.(Arg383Ter)	NC_000002.11:g.47656951C>T	(Likely) pathogenic	3 labs	260a36ed8a
3:38620852 SCN5A C>T	3	38620852	38620852	C	T	SCN5A	c.3363G>A	NM_001099404.2	NP_001092874.1:p.(Ala1121=)	NC_000003.11:g.38620852C>T	(Likely) benign	3 labs	260b7769a8
3:132409501 NPHP3 A>G	3	132409501	132409501	A	G	NPHP3	c.2571-7T>C	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132409501A>G	(Likely) benign	2 labs	260e7fe969
6:152454404 SYNE1 T>A	6	152454404	152454404	T	A	SYNE1	c.26001+7A>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152454404T>A	(Likely) benign	2 labs	2612e695cc
13:31821240 B3GLCT C>T	13	31821240	31821240	C	T	B3GLCT	c.347+4C>T	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31821240C>T	(Likely) benign	2 labs	e6f4347f66
17:70119709 SOX9 A>C	17	70119709	70119709	A	C	SOX9	c.711A>C	NM_000346.3	NP_000337.1:p.(Pro237=)	NC_000017.10:g.70119709A>C	(Likely) benign	2 labs	26163712f8
1:152281142 FLG C>G	1	152281142	152281142	C	G	FLG	c.6220G>C	NM_002016.1	NP_002007.1:p.(Glu2074Gln)	NC_000001.10:g.152281142C>G	(Likely) benign	2 labs	261eba4d14
7:128477745 FLNC C>T	7	128477745	128477745	C	T	FLNC	c.905C>T	NM_001458.5	NP_001449.3:p.(Thr302Met)	NC_000007.13:g.128477745C>T	VUS	2 labs	26259677cf
13:52585548 ATP7B G>T	13	52585548	52585548	G	T	ATP7B	c.-75C>A	NM_000053.3	NP_000044.2:p.?	NC_000013.10:g.52585548G>T	(Likely) benign	3 labs	2629af2d2d
17:41245071 BRCA1 G>T	17	41245071	41245071	G	T	BRCA1	c.2477C>A	NM_007294.4	NP_009225.1:p.(Thr826Lys)	NC_000017.10:g.41245071G>T	(Likely) benign	4 labs	e701ce0184
15:90628591 IDH2 G>A	15	90628591	90628591	G	A	IDH2	c.996C>T	NM_002168.4	NP_002159.2:p.(Ser332=)	NC_000015.9:g.90628591G>A	(Likely) benign	2 labs	e702838449
2:179587535 TTN C>T	2	179587535	179587535	C	T	TTN	c.22091G>A	NM_001267550.2	NP_001254479.2:p.(Arg7364Gln)	NC_000002.11:g.179587535C>T	VUS	4 labs	26327425cc
12:21623219 RECQL G>C	12	21623219	21623219	G	C	RECQL	c.1859C>G	NM_002907.4	NP_002898.2:p.(Ser620Ter)	NC_000012.11:g.21623219G>C	VUS	2 labs	262cc9a3f0
11:95546671 CEP57 A>G	11	95546671	95546671	A	G	CEP57				NC_000011.9:g.95546671A>G	(Likely) benign	2 labs	26329e55fe
7:19156668 TWIST1 T>C	7	19156668	19156668	T	C	TWIST1	c.277A>G	NM_000474.4	NP_000465.1:p.(Ser93Gly)	NC_000007.13:g.19156668T>C	(Likely) benign	3 labs	262f55e5a5
1:216166437 USH2A C>T	1	216166437	216166437	C	T	USH2A	c.6730G>A	NM_206933.2	NP_996816.2:p.(Val2244Met)	NC_000001.10:g.216166437C>T	VUS	2 labs	2633cfc4e2
21:47570433 FTCD G>A	21	47570433	47570433	G	A	FTCD	c.643C>T	NM_001320412.1	NP_001307341.1:p.(Arg215Cys)	NC_000021.8:g.47570433G>A	(Likely) benign	2 labs	2634311406
2:73679280 ALMS1 A>G	2	73679280	73679280	A	G	ALMS1	c.5629A>G	NM_015120.4	NP_055935.4:p.(Ile1877Val)	NC_000002.11:g.73679280A>G	(Likely) benign	2 labs	e7046cb7e2
12:22005314 ABCC9 C>T	12	22005314	22005314	C	T	ABCC9	c.2631G>A	NM_020297.4	NP_064693.2:p.(Thr877=)	NC_000012.11:g.22005314C>T	(Likely) benign	2 labs	26339e463a
12:106804612 POLR3B A>G	12	106804612	106804612	A	G	POLR3B	c.975A>G	NM_018082.6	NP_060552.4:p.(Glu325=)	NC_000012.11:g.106804612A>G	(Likely) benign	3 labs	263b3b55c0
6:137519780 IFNGR1 T>C	6	137519780	137519780	T	C	IFNGR1	c.862-4A>G	NM_000416.3	NP_000407.1:p.?	NC_000006.11:g.137519780T>C	(Likely) benign	2 labs	263d0b4ab5
9:123301346 CDK5RAP2 T>G	9	123301346	123301346	T	G	CDK5RAP2	c.480A>C	NM_018249.5	NP_060719.4:p.(Leu160=)	NC_000009.11:g.123301346T>G	(Likely) benign	2 labs	263ef9bb7f
2:179458614 TTN T>C	2	179458614	179458614	T	C	TTN	c.58433-20A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179458614T>C	(Likely) benign	2 labs	2645cbda54
6:117246670 RFX6 G>C	6	117246670	117246670	G	C	RFX6	c.1733G>C	NM_173560.3	NP_775831.2:p.(Arg578Pro)	NC_000006.11:g.117246670G>C	(Likely) benign	2 labs	264a394c4e
5:55265555 IL6ST T>C	5	55265555	55265555	T	C	IL6ST	c.193A>G	NM_002184.4	NP_002175.2:p.(Ile65Val)	NC_000005.9:g.55265555T>C	VUS	2 labs	e70a8c1028
1:247588696 NLRP3 C>T	1	247588696	247588696	C	T	NLRP3	c.1945C>T	NM_001243133.1	NP_001230062.1:p.(Pro649Ser)	NC_000001.10:g.247588696C>T	VUS	2 labs	266716ddbe
16:2138295 TSC2 G>A	16	2138295	2138295	G	A	TSC2	c.5159G>A	NM_001114382.3	NP_001107854.1:p.(Arg1720Gln)	NC_000016.9:g.2138295G>A	(Likely) pathogenic	2 labs	265a1dafa4
1:197074260 ASPM GAAT>G	1	197074260	197074267	GAAT	G	ASPM	c.4118_4120del	NM_018136.5	NP_060606.3:p.(Tyr1373del)	NC_000001.10:g.197074265_197074267del	VUS	2 labs	2669692bf2
19:13008171 GCDH A>G	19	13008171	13008171	A	G	GCDH	c.1011A>G	NM_000159.4	NP_000150.1:p.(Ala337=)	NC_000019.9:g.13008171A>G	(Likely) benign	4 labs	266bf0f0ca
5:34950282 DNAJC21 A>G	5	34950282	34950282	A	G	DNAJC21	c.1328A>G	NM_194283.3	NP_919259.3:p.(Asp443Gly)	NC_000005.9:g.34950282A>G	(Likely) benign	2 labs	266eb9ef0f
9:35794060 NPR2 G>A	9	35794060	35794060	G	A	NPR2	c.833G>A	NM_003995.3	NP_003986.2:p.(Arg278His)	NC_000009.11:g.35794060G>A	VUS	2 labs	26741c16e6
21:47404397 COL6A1 A>G	21	47404397	47404397	A	G	COL6A1	c.428+14A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47404397A>G	(Likely) benign	3 labs	e706ec657f
7:35293228 TBX20 C>T	7	35293228	35293228	C	T	TBX20	c.4G>A	NM_001077653.2	NP_001071121.1:p.(Glu2Lys)	NC_000007.13:g.35293228C>T	VUS	3 labs	267f0e466c
2:179407409 TTN G>A	2	179407409	179407409	G	A	TTN	c.92249C>T	NM_001256850.1	NP_001243779.1:p.(Thr30750Ile)	NC_000002.11:g.179407409G>A	VUS	2 labs	2684541036
10:73442210 CDH23 G>A	10	73442210	73442210	G	A	CDH23	c.1867G>A	NM_022124.5	NP_071407.4:p.(Val623Ile)	NC_000010.10:g.73442210G>A	VUS	2 labs	26948be59f
11:63978847 FERMT3 C>T	11	63978847	63978847	C	T	FERMT3	c.615C>T	NM_178443.2	NP_848537.1:p.(Pro205=)	NC_000011.9:g.63978847C>T	(Likely) benign	3 labs	26a2253c50
22:21348254 LZTR1 G>A	22	21348254	21348254	G	A	LZTR1	c.1395G>A	NM_006767.3	NP_006758.2:p.(Ala465=)	NC_000022.10:g.21348254G>A	(Likely) benign	2 labs	26b4c60c9d
15:89417238 ACAN A>G	15	89417238	89417238	A	G	ACAN	c.7499A>G	NM_013227.4	NP_037359.3:p.(Gln2500Arg)	NC_000015.9:g.89417238A>G	(Likely) benign	2 labs	e7119aa54c
10:75393775 MYOZ1 T>C	10	75393775	75393775	T	C	MYOZ1	c.551A>G	NM_021245.3	NP_067068.1:p.(Tyr184Cys)	NC_000010.10:g.75393775T>C	VUS	2 labs	26ccd8a126
3:182733315 MCCC1 C>CT	3	182733315	182733318	C	CT	MCCC1	c.2088dup	NM_020166.5	NP_064551.3:p.(Val697SerfsTer19)	NC_000003.11:g.182733318dup	(Likely) pathogenic	2 labs	26cf3efa2a
11:108128334 ATM G>A	11	108128334	108128334	G	A	ATM	c.2376+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128334G>A	(Likely) pathogenic	3 labs	26d5dfa17b
12:133195407 P2RX2 C>T	12	133195407	133195407	C	T	P2RX2	c.5C>T	NM_001282165.1	NP_001269094.1:p.(Ala2Val)	NC_000012.11:g.133195407C>T	(Likely) benign	2 labs	26e1a07d78
16:2167594 PKD1 C>T	16	2167594	2167594	C	T	PKD1	c.1281G>A	NM_001009944.2	NP_001009944.2:p.(Ala427=)	NC_000016.9:g.2167594C>T	(Likely) benign	2 labs	26e1a622ce
13:32910908 BRCA2 G>C	13	32910908	32910908	G	C	BRCA2	c.2416G>C	NM_000059.4	NP_000050.3:p.(Asp806His)	NC_000013.10:g.32910908G>C	(Likely) benign	6 labs	26e1efb08e
3:52443731 BAP1 GA>G	3	52443731	52443734	GA	G	BAP1	c.65del	NM_004656.4	NP_004647.1:p.(Phe22SerfsTer50)	NC_000003.11:g.52443734del	(Likely) pathogenic	2 labs	e7166866dd
11:57558992 CTNND1 C>T	11	57558992	57558992	C	T	CTNND1	c.42C>T	NM_001085458.1	NP_001078927.1:p.(Ala14=)	NC_000011.9:g.57558992C>T	(Likely) benign	2 labs	26e957a0d9
2:56108844 EFEMP1 C>T	2	56108844	56108844	C	T	EFEMP1	c.543G>A	NM_001039348.3	NP_001034437.1:p.(Thr181=)	NC_000002.11:g.56108844C>T	(Likely) benign	2 labs	26e2a984be
X:50350531 SHROOM4 T>C	X	50350531	50350531	T	C	SHROOM4	c.3611A>G	NM_020717.3	NP_065768.2:p.(Glu1204Gly)	NC_000023.10:g.50350531T>C	(Likely) benign	2 labs	26f114418f
14:23888717 MYH7 C>G	14	23888717	23888717	C	G	MYH7	c.3828G>C	NM_000257.4	NP_000248.2:p.(Gln1276His)	NC_000014.8:g.23888717C>G	VUS	4 labs	26eff900f6
4:5667343 EVC2 A>T	4	5667343	5667343	A	T	EVC2	c.904T>A	NM_147127.5	NP_667338.3:p.(Phe302Ile)	NC_000004.11:g.5667343A>T	VUS	3 labs	26fbd6c2c6
12:79685836 SYT1 AAAG>A	12	79685836	79685844	AAAG	A	SYT1	c.406_408del	NM_005639.3	NP_005630.1:p.(Glu136del)	NC_000012.11:g.79685842_79685844del	VUS	2 labs	2726aebf45
6:33146725 COL11A2 C>T	6	33146725	33146725	C	T	COL11A2	c.1637G>A	NM_080680.2	NP_542411.2:p.(Arg546Gln)	NC_000006.11:g.33146725C>T	VUS	2 labs	272bacd281
20:10637057 JAG1 T>C	20	10637057	10637057	T	C	JAG1	c.744A>G	NM_000214.3	NP_000205.1:p.(Pro248=)	NC_000020.10:g.10637057T>C	(Likely) benign	3 labs	2727abd4c3
11:47371442 MYBPC3 G>A	11	47371442	47371442	G	A	MYBPC3	c.537C>T	NM_000256.3	NP_000247.2:p.(Ala179=)	NC_000011.9:g.47371442G>A	(Likely) benign	5 labs	e73a306924
11:65304049 SCYL1 C>T	11	65304049	65304049	C	T	SCYL1	c.1652-8C>T	NM_020680.3	NP_065731.3:p.?	NC_000011.9:g.65304049C>T	(Likely) benign	2 labs	2734a107b6
7:21789851 DNAH11 G>A	7	21789851	21789851	G	A	DNAH11				NC_000007.13:g.21789851G>A	VUS	2 labs	27371b9962
6:33137259 COL11A2 G>A	6	33137259	33137259	G	A	COL11A2	c.3699C>T	NM_080680.3	NP_542411.2:p.(Arg1233=)	NC_000006.11:g.33137259G>A	(Likely) benign	3 labs	2731bf2cda
16:2134936 TSC2 T>TC	16	2134936	2134940	T	TC	TSC2	c.4494-12dup	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134940dup	(Likely) benign	2 labs	27335c72f4
3:193377352 OPA1 T>C	3	193377352	193377352	T	C	OPA1	c.2520+2T>C	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193377352T>C	(Likely) pathogenic	2 labs	273b12f7aa
13:32944624 BRCA2 C>T	13	32944624	32944624	C	T	BRCA2	c.8417C>T	NM_000059.3	NP_000050.2:p.(Ser2806Leu)	NC_000013.10:g.32944624C>T	VUS	2 labs	273b4d86a9
2:179396751 TTN G>A	2	179396751	179396751	G	A	TTN	c.104591C>T	NM_001267550.2	NP_001254479.2:p.(Pro34864Leu)	NC_000002.11:g.179396751G>A	VUS	2 labs	273e72584a
13:32929360 BRCA2 T>G	13	32929360	32929360	T	G	BRCA2	c.7370T>G	NM_000059.4	NP_000050.3:p.(Phe2457Cys)	NC_000013.10:g.32929360T>G	(Likely) benign	3 labs	e73bea739b
4:123664446 BBS12 G>A	4	123664446	123664446	G	A	BBS12	c.1399G>A	NM_001178007.2	NP_001171478.1:p.(Asp467Asn)	NC_000004.11:g.123664446G>A	(Likely) benign	3 labs	2745adde07
X:153580576 FLNA G>A	X	153580576	153580576	G	A	FLNA	c.6742C>T	NM_001110556.2	NP_001104026.1:p.(Leu2248=)	NC_000023.10:g.153580576G>A	(Likely) benign	3 labs	e7492b2a53
17:29576111 NF1 C>T	17	29576111	29576111	C	T	NF1	c.4084C>T	NM_000267.3	NP_000258.1:p.(Arg1362Ter)	NC_000017.10:g.29576111C>T	(Likely) pathogenic	2 labs	274ea37176
2:179440026 TTN C>T	2	179440026	179440026	C	T	TTN	c.65910G>A	NM_001256850.1	NP_001243779.1:p.(Ala21970=)	NC_000002.11:g.179440026C>T	(Likely) benign	3 labs	2753f0cedc
3:49163437 LAMB2 G>A	3	49163437	49163437	G	A	LAMB2	c.2307C>T	NM_002292.3	NP_002283.3:p.(Leu769=)	NC_000003.11:g.49163437G>A	(Likely) benign	2 labs	275d988585
2:179442821 TTN T>G	2	179442821	179442821	T	G	TTN	c.68421A>C	NM_001267550.2	NP_001254479.2:p.(Gly22807=)	NC_000002.11:g.179442821T>G	(Likely) benign	3 labs	275e6e6840
2:71825884 DYSF G>T	2	71825884	71825884	G	T	DYSF	c.3753+9G>T	NM_001130981.1	NP_001124453.1:p.?	NC_000002.11:g.71825884G>T	(Likely) benign	3 labs	275e71cd01
13:32937517 BRCA2 T>A	13	32937517	32937517	T	A	BRCA2	c.8178T>A	NM_000059.4	NP_000050.3:p.(Tyr2726Ter)	NC_000013.10:g.32937517T>A	(Likely) pathogenic	4 labs	2761c1a825
19:11240173 LDLR G>A	19	11240173	11240173	G	A	LDLR	c.2390-16G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240173G>A	(Likely) benign	2 labs	e74a787005
20:32378906 ZNF341 C>T	20	32378906	32378906	C	T	ZNF341	c.2148C>T	NM_001282933.1	NP_001269862.1:p.(Cys716=)	NC_000020.10:g.32378906C>T	(Likely) benign	2 labs	276cbd6112
10:21461410 NEBL G>GA	10	21461410	21461424	G	GA	NEBL	c.70-5dup	NM_213569.2	NP_998734.1:p.?	NC_000010.10:g.21461424dup	(Likely) benign	3 labs	276d644d62
17:78090910 GAA T>A	17	78090910	78090910	T	A	GAA	c.2331+2T>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78090910T>A	(Likely) pathogenic	2 labs	2775b3be3d
17:78084548 GAA T>TC	17	78084548	78084552	T	TC	GAA	c.1464dup	NM_000152.3	NP_000143.2:p.(Asp489ArgfsTer17)	NC_000017.10:g.78084552dup	(Likely) pathogenic	2 labs	277d016fa6
8:90965597 NBN A>T	8	90965597	90965597	A	T	NBN	c.1720T>A	NM_002485.4	NP_002476.2:p.(Leu574Ile)	NC_000008.10:g.90965597A>T	(Likely) benign	2 labs	278a813447
8:10465771 RP1L1 G>T	8	10465771	10465771	G	T	RP1L1	c.5837C>A	NM_178857.6	NP_849188.4:p.(Ala1946Glu)	NC_000008.10:g.10465771G>T	(Likely) benign	3 labs	278c92ab30
X:69510283 KIF4A C>T	X	69510283	69510283	C	T	KIF4A	c.-21-5C>T	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69510283C>T	(Likely) benign	2 labs	2790dfd7c7
2:179412994 TTN A>G	2	179412994	179412994	A	G	TTN	c.93359T>C	NM_001267550.2	NP_001254479.2:p.(Leu31120Pro)	NC_000002.11:g.179412994A>G	VUS	3 labs	279ab74f22
17:73494400 TMEM94 C>T	17	73494400	73494400	C	T	TMEM94	c.3634C>T	NM_014738.5	NP_055553.3:p.(Pro1212Ser)	NC_000017.10:g.73494400C>T	(Likely) benign	2 labs	2797fc34e2
X:69496000 ARR3 C>T	X	69496000	69496000	C	T	ARR3	c.214C>T	NM_004312.2	NP_004303.2:p.(Arg72Ter)	NC_000023.10:g.69496000C>T	(Likely) pathogenic	2 labs	27a93b3cab
19:54310851 NLRP12 T>C	19	54310851	54310851	T	C	NLRP12	c.2144A>G	NM_001277126.1	NP_001264055.1:p.(Asn715Ser)	NC_000019.9:g.54310851T>C	(Likely) benign	2 labs	27b0bdb900
6:7580152 DSP A>G	6	7580152	7580152	A	G	DSP	c.3729A>G	NM_004415.4	NP_004406.2:p.(Ser1243=)	NC_000006.11:g.7580152A>G	(Likely) benign	3 labs	27ae33d6dd
13:32950929 BRCA2 G>T	13	32950929	32950929	G	T	BRCA2	c.8754+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950929G>T	(Likely) pathogenic	2 labs	27b5e09cd4
17:1637492 WDR81 G>A	17	1637492	1637492	G	A	WDR81	c.5161G>A	NM_001163809.1	NP_001157281.1:p.(Val1721Ile)	NC_000017.10:g.1637492G>A	(Likely) benign	2 labs	27b80ebae2
14:23890229 MYH7 C>T	14	23890229	23890229	C	T	MYH7	c.3274G>A	NM_000257.4	NP_000248.2:p.(Ala1092Thr)	NC_000014.8:g.23890229C>T	VUS	2 labs	e75725196f
6:112506496 LAMA4 G>A	6	112506496	112506496	G	A	LAMA4	c.1020C>T	NM_001105206.3	NP_001098676.2:p.(Asn340=)	NC_000006.11:g.112506496G>A	(Likely) benign	3 labs	27cf70d273
2:179410704 TTN G>A	2	179410704	179410704	G	A	TTN	c.95259C>T	NM_001267550.2	NP_001254479.2:p.(Leu31753=)	NC_000002.11:g.179410704G>A	(Likely) benign	4 labs	27cfe7e541
3:15683529 BTD C>A	3	15683529	15683529	C	A	BTD	c.424C>A	NM_000060.4	NP_000051.1:p.(Pro142Thr)	NC_000003.11:g.15683529C>A	(Likely) pathogenic	3 labs	27d92e128a
2:179643775 TTN C>T	2	179643775	179643775	C	T	TTN	c.4034G>A	NM_001267550.2	NP_001254479.2:p.(Gly1345Asp)	NC_000002.11:g.179643775C>T	(Likely) benign	6 labs	27d9783b65
13:32918706 BRCA2 A>G	13	32918706	32918706	A	G	BRCA2	c.6853A>G	NM_000059.4	NP_000050.3:p.(Ile2285Val)	NC_000013.10:g.32918706A>G	(Likely) benign	5 labs	27de9a5faa
7:128489475 FLNC C>G	7	128489475	128489475	C	G	FLNC	c.5042C>G	NM_001458.5	NP_001449.3:p.(Thr1681Arg)	NC_000007.13:g.128489475C>G	(Likely) benign	3 labs	27df6e2920
16:2161550 PKD1 C>T	16	2161550	2161550	C	T	PKD1	c.3618G>A	NM_001009944.2	NP_001009944.2:p.(Val1206=)	NC_000016.9:g.2161550C>T	(Likely) benign	2 labs	27e0af0489
2:238277603 COL6A3 G>A	2	238277603	238277603	G	A	COL6A3	c.4503C>T	NM_004369.3	NP_004360.2:p.(Asp1501=)	NC_000002.11:g.238277603G>A	(Likely) benign	2 labs	27e1cc9845
13:111145554 COL4A2 G>C	13	111145554	111145554	G	C	COL4A2	c.3563-4G>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111145554G>C	(Likely) benign	2 labs	e75c127b42
11:61723391 BEST1 G>C	11	61723391	61723391	G	C	BEST1	c.269G>C	NM_001139443.1	NP_001132915.1:p.(Arg90Pro)	NC_000011.9:g.61723391G>C	VUS	2 labs	27e4613e08
17:41243060 BRCA1 A>G	17	41243060	41243060	A	G	BRCA1	c.4097-11T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243060A>G	(Likely) benign	2 labs	27e88358e1
14:50101370 DNAAF2 G>A	14	50101370	50101370	G	A	DNAAF2	c.498C>T	NM_018139.3	NP_060609.2:p.(Ala166=)	NC_000014.8:g.50101370G>A	(Likely) benign	2 labs	27f9bbee01
14:91779704 CCDC88C T>C	14	91779704	91779704	T	C	CCDC88C	c.2456A>G	NM_001080414.4	NP_001073883.2:p.(Asp819Gly)	NC_000014.8:g.91779704T>C	VUS	2 labs	2800e7fe71
1:237675054 RYR2 C>T	1	237675054	237675054	C	T	RYR2	c.2785C>T	NM_001035.3	NP_001026.2:p.(Arg929Cys)	NC_000001.10:g.237675054C>T	VUS	2 labs	e75c7d53f2
5:172659953 NKX2-5 C>T	5	172659953	172659953	C	T	NKX2-5	c.594G>A	NM_004387.4	NP_004378.1:p.(Gln198=)	NC_000005.9:g.172659953C>T	(Likely) benign	3 labs	2805e6264d
19:36594542 WDR62 C>T	19	36594542	36594542	C	T	WDR62	c.3812C>T	NM_001083961.1	NP_001077430.1:p.(Ala1271Val)	NC_000019.9:g.36594542C>T	(Likely) benign	2 labs	280b721ebf
13:110838822 COL4A1 G>A	13	110838822	110838822	G	A	COL4A1	c.1807C>T	NM_001845.6	NP_001836.3:p.(Pro603Ser)	NC_000013.10:g.110838822G>A	VUS	3 labs	e75c87f905
10:112404350 RBM20 G>C	10	112404350	112404350	G	C	RBM20	c.138G>C	NM_001134363.1	NP_001127835.1:p.(Pro46=)	NC_000010.10:g.112404350G>C	(Likely) benign	2 labs	28127a5d69
19:1222972 STK11 G>A	19	1222972	1222972	G	A	STK11	c.921-12G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1222972G>A	(Likely) pathogenic	2 labs	28179b81a8
2:32341193 SPAST C>T	2	32341193	32341193	C	T	SPAST	c.1010C>T	NM_014946.3	NP_055761.2:p.(Thr337Ile)	NC_000002.11:g.32341193C>T	VUS	2 labs	281a00bfc9
8:48878875 MCM4 C>T	8	48878875	48878875	C	T	MCM4	c.961C>T	NM_005914.4	NP_005905.2:p.(Arg321Cys)	NC_000008.10:g.48878875C>T	(Likely) benign	2 labs	281aa5aaa5
2:48032048 MSH6 G>T	2	48032048	48032048	G	T	MSH6	c.3439-1G>T	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032048G>T	(Likely) pathogenic	2 labs	281bbfb43f
15:84909342 GOLGA6L4 T>C	15	84909342	84909342	T	C	GOLGA6L4	c.1236T>C	NM_001267536.2	NP_001254465.2:p.(Asp412=)	NC_000015.9:g.84909342T>C	(Likely) benign	2 labs	282179aecc
10:89720648 PTEN T>TA	10	89720648	89720649	T	TA	PTEN	c.802-2dup	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720649dup	(Likely) benign	2 labs	28232a7ae7
17:29508779 NF1 C>T	17	29508779	29508779	C	T	NF1	c.706C>T	NM_000267.3	NP_000258.1:p.(Gln236Ter)	NC_000017.10:g.29508779C>T	(Likely) pathogenic	2 labs	2825945760
5:112174464 APC A>G	5	112174464	112174464	A	G	APC	c.3173A>G	NM_000038.6	NP_000029.2:p.(Asp1058Gly)	NC_000005.9:g.112174464A>G	(Likely) benign	6 labs	2826b3a493
2:179615315 TTN G>A	2	179615315	179615315	G	A	TTN	c.11812C>T	NM_133379.5	NP_596870.2:p.(Arg3938Cys)	NC_000002.11:g.179615315G>A	VUS	2 labs	e767f21753
4:6296880 WFS1 G>A	4	6296880	6296880	G	A	WFS1	c.825G>A	NM_006005.3	NP_005996.2:p.(Ala275=)	NC_000004.11:g.6296880G>A	(Likely) benign	2 labs	2834f4f0f7
2:228173646 COL4A3 C>G	2	228173646	228173646	C	G	COL4A3	c.4494C>G	NM_000091.4	NP_000082.2:p.(Thr1498=)	NC_000002.11:g.228173646C>G	(Likely) benign	3 labs	2835609d09
X:18671574 CDKL5 C>T	X	18671574	18671574	C	T	CDKL5	c.3003C>T	NM_003159.3	NP_003150.1:p.(His1001=)	NC_000023.10:g.18671574C>T	(Likely) benign	4 labs	e76ab2fdc7
7:128490441 FLNC ACAGAGGAGC>A	7	128490441	128490453	ACAGAGGAGC	A	FLNC	c.5306_5314del	NM_001458.5	NP_001449.3:p.(Glu1769_Pro1771del)	NC_000007.13:g.128490445_128490453del	VUS	2 labs	28443f865b
8:145541796 DGAT1 G>A	8	145541796	145541796	G	A	DGAT1	c.713C>T	NM_012079.5	NP_036211.2:p.(Pro238Leu)	NC_000008.10:g.145541796G>A	(Likely) benign	2 labs	28458094f5
14:61115522 SIX1 T>C	14	61115522	61115522	T	C	SIX1	c.386A>G	NM_005982.3	NP_005973.1:p.(Tyr129Cys)	NC_000014.8:g.61115522T>C	(Likely) pathogenic	2 labs	284b6cfdce
10:100503793 HPSE2 A>G	10	100503793	100503793	A	G	HPSE2	c.631T>C	NM_001166246.1	NP_001159718.1:p.(Tyr211His)	NC_000010.10:g.100503793A>G	(Likely) benign	2 labs	284b8d0878
2:179649085 TTN G>T	2	179649085	179649085	G	T	TTN	c.2494-7C>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179649085G>T	(Likely) benign	2 labs	284e2e8253
2:15417085 NBAS T>A	2	15417085	15417085	T	A	NBAS	c.5279A>T	NM_015909.4	NP_056993.2:p.(Gln1760Leu)	NC_000002.11:g.15417085T>A	VUS	2 labs	e76d44cd5c
X:1409247 CSF2RA G>A	X	1409247	1409247	G	A	CSF2RA	c.491G>A	NM_001161529.1	NP_001155001.1:p.(Arg164Gln)	NC_000023.10:g.1409247G>A	(Likely) benign	2 labs	2853f3a7fe
2:166898938 SCN1A TA>T	2	166898938	166898947	TA	T	SCN1A	c.2044-5del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166898947del	(Likely) benign	2 labs	2857eef3ab
4:187518172 FAT1 C>T	4	187518172	187518172	C	T	FAT1	c.12522G>A	NM_005245.3	NP_005236.2:p.(Pro4174=)	NC_000004.11:g.187518172C>T	(Likely) benign	2 labs	285a61763c
1:65301774 JAK1 G>A	1	65301774	65301774	G	A	JAK1	c.3258+7C>T	NM_001321853.1	NP_001308782.1:p.?	NC_000001.10:g.65301774G>A	(Likely) benign	2 labs	28625c6caf
8:61765762 CHD7 G>A	8	61765762	61765762	G	A	CHD7	c.6478G>A	NM_017780.4	NP_060250.2:p.(Ala2160Thr)	NC_000008.10:g.61765762G>A	(Likely) benign	4 labs	e771b663be
5:11384999 CTNND2 T>C	5	11384999	11384999	T	C	CTNND2	c.955A>G	NM_001332.4	NP_001323.1:p.(Ile319Val)	NC_000005.9:g.11384999T>C	VUS	2 labs	e7781fc959
1:6021949 NPHP4 G>A	1	6021949	6021949	G	A	NPHP4	c.578C>T	NM_015102.4	NP_055917.1:p.(Pro193Leu)	NC_000001.10:g.6021949G>A	(Likely) benign	2 labs	2879a1d3a2
17:16843705 TNFRSF13B CTCT>C	17	16843705	16843712	CTCT	C	TNFRSF13B	c.563_565del	NM_012452.3	NP_036584.1:p.(Lys188del)	NC_000017.10:g.16843710_16843712del	(Likely) benign	2 labs	287a288a6e
6:42933782 PEX6 C>T	6	42933782	42933782	C	T	PEX6	c.2362G>A	NM_000287.3	NP_000278.3:p.(Val788Met)	NC_000006.11:g.42933782C>T	(Likely) pathogenic	2 labs	2883ad1f82
3:4685936 ITPR1 T>C	3	4685936	4685936	T	C	ITPR1	c.624+18T>C	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4685936T>C	(Likely) benign	2 labs	288cf0b2af
2:211342502 CPS1 G>A	2	211342502	211342502	G	A	CPS1	c.-16+12G>A	NM_001122633.3	NP_001116105.2:p.?	NC_000002.11:g.211342502G>A	(Likely) benign	3 labs	28898a047c
4:186456529 PDLIM3 G>T	4	186456529	186456529	G	T	PDLIM3	c.60C>A	NM_014476.5	NP_055291.2:p.(Gly20=)	NC_000004.11:g.186456529G>T	(Likely) benign	2 labs	289f8dba19
6:42672272 PRPH2 CG>C	6	42672272	42672273	CG	C	PRPH2	c.658del	NM_000322.5	NP_000313.2:p.(Arg220GlyfsTer36)	NC_000006.11:g.42672273del	(Likely) pathogenic	2 labs	28a58df2cd
2:179634936 TTN C>T	2	179634936	179634936	C	T	TTN	c.8492G>A	NM_001267550.2	NP_001254479.2:p.(Ser2831Asn)	NC_000002.11:g.179634936C>T	(Likely) benign	2 labs	28a13799eb
10:50678829 ERCC6 A>G	10	50678829	50678829	A	G	ERCC6	c.3177T>C	NM_000124.2	NP_000115.1:p.(Ser1059=)	NC_000010.10:g.50678829A>G	(Likely) benign	2 labs	28ad406325
2:179500777 TTN C>T	2	179500777	179500777	C	T	TTN	c.41521G>A	NM_001267550.2	NP_001254479.2:p.(Asp13841Asn)	NC_000002.11:g.179500777C>T	(Likely) benign	6 labs	28b1952f97
X:49099767 CCDC22 G>A	X	49099767	49099767	G	A	CCDC22	c.553G>A	NM_014008.4	NP_054727.1:p.(Ala185Thr)	NC_000023.10:g.49099767G>A	(Likely) benign	2 labs	28b1efb3b2
1:57406638 C8B G>A	1	57406638	57406638	G	A	C8B	c.1282C>T	NM_000066.4	NP_000057.3:p.(Arg428Ter)	NC_000001.10:g.57406638G>A	(Likely) pathogenic	4 labs	28b7f202ea
X:130412000 IGSF1 TCCTTATACAGAGCAAACCCCATGCCTG>T	X	130412000	130412029	TCCTTATACAGAGCAAACCCCATGCCTG	T	IGSF1	c.2123_2149del	NM_001555.5	NP_001546.2:p.(Ala708_Lys716del)	NC_000023.10:g.130412003_130412029del	(Likely) pathogenic	2 labs	28ba302a41
19:38949904 RYR1 C>T	19	38949904	38949904	C	T	RYR1	c.2286C>T	NM_000540.3	NP_000531.2:p.(Pro762=)	NC_000019.9:g.38949904C>T	(Likely) benign	3 labs	e784dfadde
16:3299765 MEFV G>A	16	3299765	3299765	G	A	MEFV	c.926C>T	NM_000243.3	NP_000234.1:p.(Thr309Met)	NC_000016.9:g.3299765G>A	VUS	2 labs	e78ef3f3b8
11:6638944 TPP1 G>A	11	6638944	6638944	G	A	TPP1	c.293C>T	NM_000391.4	NP_000382.3:p.(Thr98Met)	NC_000011.9:g.6638944G>A	(Likely) benign	3 labs	28d5191ff6
11:47365209 MYBPC3 C>T	11	47365209	47365209	C	T	MYBPC3	c.1091-34G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365209C>T	(Likely) benign	2 labs	28da473513
19:16591464 CALR3 G>A	19	16591464	16591464	G	A	CALR3	c.972C>T	NM_145046.5	NP_659483.2:p.(Tyr324=)	NC_000019.9:g.16591464G>A	(Likely) benign	3 labs	28df1ce95a
12:52182545 SCN8A A>G	12	52182545	52182545	A	G	SCN8A	c.4281+13A>G	NM_014191.3	NP_055006.1:p.?	NC_000012.11:g.52182545A>G	(Likely) benign	2 labs	28e1704227
2:170009481 LRP2 A>T	2	170009481	170009481	A	T	LRP2	c.12296-7T>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170009481A>T	(Likely) benign	2 labs	28e6eb68c1
2:189974943 COL5A2 A>G	2	189974943	189974943	A	G	COL5A2	c.322+8T>C	NM_000393.4	NP_000384.2:p.?	NC_000002.11:g.189974943A>G	(Likely) benign	2 labs	28f3332cf3
1:5965384 NPHP4 G>A	1	5965384	5965384	G	A	NPHP4	c.1923C>T	NM_015102.4	NP_055917.1:p.(Asn641=)	NC_000001.10:g.5965384G>A	(Likely) benign	2 labs	28f7d3a347
X:152818521 ATP2B3 G>A	X	152818521	152818521	G	A	ATP2B3	c.1852G>A	NM_021949.3	NP_068768.2:p.(Glu618Lys)	NC_000023.10:g.152818521G>A	(Likely) benign	2 labs	28fb65defe
3:10088412 FANCD2 G>T	3	10088412	10088412	G	T	FANCD2	c.1278+5G>T	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10088412G>T	VUS	2 labs	28ff54de2e
6:31937127 SKIC2 C>T	6	31937127	31937127	C	T	SKIC2	c.3470C>T	NM_006929.5	NP_008860.4:p.(Thr1157Met)	NC_000006.11:g.31937127C>T	VUS	2 labs	290804f95d
10:75834471 VCL A>G	10	75834471	75834471	A	G	VCL	c.623-30A>G	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75834471A>G	(Likely) benign	2 labs	2908fc975d
10:95993931 PLCE1 A>T	10	95993931	95993931	A	T	PLCE1	c.2076A>T	NM_016341.3	NP_057425.3:p.(Thr692=)	NC_000010.10:g.95993931A>T	(Likely) benign	2 labs	290a683f84
7:128494869 FLNC C>A	7	128494869	128494869	C	A	FLNC	c.7038C>A	NM_001458.4	NP_001449.3:p.(Gly2346=)	NC_000007.13:g.128494869C>A	(Likely) benign	2 labs	291523c322
10:115405703 NRAP G>GA	10	115405703	115405713	G	GA	NRAP	c.994-4dup	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115405713dup	(Likely) benign	2 labs	291fded905
2:179434160 TTN C>A	2	179434160	179434160	C	A	TTN	c.76699G>T	NM_001267550.1	NP_001254479.1:p.(Val25567Phe)	NC_000002.11:g.179434160C>A	(Likely) benign	2 labs	2921e469dc
17:78081707 GAA G>A	17	78081707	78081707	G	A	GAA	c.955+12G>A	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081707G>A	(Likely) benign	4 labs	292470bab8
9:123205981 CDK5RAP2 C>T	9	123205981	123205981	C	T	CDK5RAP2	c.3065G>A	NM_018249.5	NP_060719.4:p.(Gly1022Glu)	NC_000009.11:g.123205981C>T	(Likely) benign	2 labs	2929bc4072
19:7141795 INSR G>A	19	7141795	7141795	G	A	INSR	c.2575C>T	NM_000208.3	NP_000199.2:p.(His859Tyr)	NC_000019.9:g.7141795G>A	(Likely) benign	2 labs	292b7c75c7
8:144997819 PLEC G>A	8	144997819	144997819	G	A	PLEC	c.6689C>T	NM_201380.3	NP_958782.1:p.(Ala2230Val)	NC_000008.10:g.144997819G>A	VUS	2 labs	293245938a
1:94544962 ABCA4 G>A	1	94544962	94544962	G	A	ABCA4	c.1155C>T	NM_000350.3	NP_000341.2:p.(Ile385=)	NC_000001.10:g.94544962G>A	(Likely) benign	2 labs	292a9e1e74
2:212570071 ERBB4 G>A	2	212570071	212570071	G	A	ERBB4	c.1170C>T	NM_005235.3	NP_005226.1:p.(Asn390=)	NC_000002.11:g.212570071G>A	(Likely) benign	2 labs	29369b8476
7:75615287 POR G>A	7	75615287	75615287	G	A	POR	c.1716G>A	NM_001382658.1	NP_001369587.1:p.(Ser572=)	NC_000007.13:g.75615287G>A	(Likely) benign	2 labs	e7a5d28a3e
17:29560047 NF1 CAA>C	17	29560047	29560049	CAA	C	NF1	c.3525_3526del	NM_001042492.3	NP_001035957.1:p.(Arg1176SerfsTer18)	NC_000017.10:g.29560048_29560049del	(Likely) pathogenic	2 labs	293fe934aa
18:55359132 ATP8B1 C>T	18	55359132	55359132	C	T	ATP8B1	c.1127G>A	NM_005603.6	NP_005594.2:p.(Gly376Glu)	NC_000018.9:g.55359132C>T	VUS	2 labs	e7b220bf5b
X:151908879 CSAG1 C>T	X	151908879	151908879	C	T	CSAG1	c.118C>T	NM_153478.2	NP_705611.2:p.(Pro40Ser)	NC_000023.10:g.151908879C>T	(Likely) benign	2 labs	294bfa6735
7:151329159 PRKAG2 G>A	7	151329159	151329159	G	A	PRKAG2	c.750C>T	NM_016203.3	NP_057287.2:p.(Asp250=)	NC_000007.13:g.151329159G>A	(Likely) benign	2 labs	2950b5d2ff
12:9004550 A2ML1 G>T	12	9004550	9004550	G	T	A2ML1	c.2405G>T	NM_144670.5	NP_653271.2:p.(Arg802Leu)	NC_000012.11:g.9004550G>T	VUS	2 labs	29531db166
8:116599199 TRPS1 T>G	8	116599199	116599199	T	G	TRPS1	c.2700+29A>C	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116599199T>G	(Likely) benign	2 labs	e7b3a05eda
20:10644610 JAG1 C>T	20	10644610	10644610	C	T	JAG1	c.439+1G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10644610C>T	(Likely) pathogenic	2 labs	295732378b
19:16601154 CALR3 T>C	19	16601154	16601154	T	C	CALR3	c.397+24A>G	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16601154T>C	(Likely) benign	2 labs	295d4a3e28
6:133802617 EYA4 G>T	6	133802617	133802617	G	T	EYA4	c.987G>T	NM_004100.4	NP_004091.3:p.(Met329Ile)	NC_000006.11:g.133802617G>T	(Likely) benign	2 labs	295d596cec
9:135773000 TSC1 G>GA	9	135773000	135773018	G	GA	TSC1	c.2626-4dup	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773018dup	(Likely) benign	4 labs	295715a62f
3:159986268 IFT80 C>T	3	159986268	159986268	C	T	IFT80	c.1745G>A	NM_001190241.1	NP_001177170.1:p.(Arg582His)	NC_000003.11:g.159986268C>T	VUS	3 labs	29660101c7
9:131388888 SPTAN1 C>T	9	131388888	131388888	C	T	SPTAN1	c.6498C>T	NM_001130438.3	NP_001123910.1:p.(Arg2166=)	NC_000009.11:g.131388888C>T	(Likely) benign	3 labs	296f70f429
8:11414273 BLK C>T	8	11414273	11414273	C	T	BLK	c.879C>T	NM_001715.2	NP_001706.2:p.(His293=)	NC_000008.10:g.11414273C>T	(Likely) benign	2 labs	296c6d79e9
2:179430744 TTN C>A	2	179430744	179430744	C	A	TTN	c.80115G>T	NM_001267550.1	NP_001254479.1:p.(Glu26705Asp)	NC_000002.11:g.179430744C>A	(Likely) benign	2 labs	296f1cb9aa
15:38641616 SPRED1 A>G	15	38641616	38641616	A	G	SPRED1	c.583-7A>G	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38641616A>G	(Likely) benign	2 labs	297066987e
X:149680417 MAMLD1 G>A	X	149680417	149680417	G	A	MAMLD1	c.2071G>A	NM_001177465.3	NP_001170936.1:p.(Glu691Lys)	NC_000023.10:g.149680417G>A	(Likely) benign	2 labs	297653bdf9
4:6302674 WFS1 C>T	4	6302674	6302674	C	T	WFS1	c.1152C>T	NM_006005.3	NP_005996.2:p.(Phe384=)	NC_000004.11:g.6302674C>T	(Likely) benign	2 labs	297679a62b
7:21640405 DNAH11 A>G	7	21640405	21640405	A	G	DNAH11	c.3112A>G	NM_001277115.2	NP_001264044.1:p.(Thr1038Ala)	NC_000007.13:g.21640405A>G	(Likely) benign	2 labs	2992678b3d
2:179398552 TTN G>A	2	179398552	179398552	G	A	TTN	c.102790C>T	NM_001267550.1	NP_001254479.1:p.(Leu34264Phe)	NC_000002.11:g.179398552G>A	VUS	2 labs	29a15459ae
17:7980427 ALOX12B G>A	17	7980427	7980427	G	A	ALOX12B	c.1156C>T	NM_001139.3	NP_001130.1:p.(Arg386Cys)	NC_000017.10:g.7980427G>A	(Likely) pathogenic	2 labs	e7c1e55f5a
11:17419224 ABCC8 C>T	11	17419224	17419224	C	T	ABCC8	c.3870+7G>A	NM_001287174.1	NP_001274103.1:p.?	NC_000011.9:g.17419224C>T	(Likely) benign	2 labs	29c2231601
8:145739069 RECQL4 G>A	8	145739069	145739069	G	A	RECQL4	c.2086C>T	NM_004260.3	NP_004251.3:p.(Arg696Cys)	NC_000008.10:g.145739069G>A	VUS	2 labs	29cbaa98c7
X:154158364 F8 T>A	X	154158364	154158364	T	A	F8	c.3701A>T	NM_000132.3	NP_000123.1:p.(His1234Leu)	NC_000023.10:g.154158364T>A	VUS	2 labs	29cc462dc1
6:32030130 TNXB C>T	6	32030130	32030130	C	T	TNXB	c.6972G>A	NM_019105.6	NP_061978.6:p.(Thr2324=)	NC_000006.11:g.32030130C>T	(Likely) benign	2 labs	29d1e1bab3
14:23248046 SLC7A7 C>T	14	23248046	23248046	C	T	SLC7A7	c.726G>A	NM_001126106.2	NP_001119578.1:p.(Trp242Ter)	NC_000014.8:g.23248046C>T	(Likely) pathogenic	2 labs	29df3613af
8:145738436 RECQL4 AAC>A	8	145738436	145738440	AAC	A	RECQL4	c.2547_2548del	NM_004260.4	NP_004251.4:p.(Phe850ProfsTer33)	NC_000008.10:g.145738439_145738440del	(Likely) pathogenic	2 labs	29e0b9494a
X:108636120 GUCY2F C>T	X	108636120	108636120	C	T	GUCY2F	c.2588+1G>A	NM_001522.2	NP_001513.2:p.?	NC_000023.10:g.108636120C>T	VUS	2 labs	29eaa50bb4
4:10105567 WDR1 A>G	4	10105567	10105567	A	G	WDR1	c.182T>C	NM_017491.4	NP_059830.1:p.(Val61Ala)	NC_000004.11:g.10105567A>G	(Likely) benign	2 labs	29f8d1858f
11:76895733 MYO7A G>T	11	76895733	76895733	G	T	MYO7A	c.3476G>T	NM_000260.3	NP_000251.3:p.(Gly1159Val)	NC_000011.9:g.76895733G>T	(Likely) pathogenic	3 labs	29fba55502
3:184033617 EIF4G1 A>C	3	184033617	184033617	A	C	EIF4G1	c.33A>C	NM_182917.4	NP_886553.3:p.(Pro11=)	NC_000003.11:g.184033617A>C	(Likely) benign	2 labs	29efb49a99
20:62324579 RTEL1 C>T	20	62324579	62324579	C	T	RTEL1	c.3007C>T	NM_032957.5	NP_116575.3:p.(Arg1003Trp)	NC_000020.10:g.62324579C>T	VUS	2 labs	e7d7ecef7d
4:10099479 WDR1 A>T	4	10099479	10099479	A	T	WDR1	c.414T>A	NM_017491.4	NP_059830.1:p.(Ser138=)	NC_000004.11:g.10099479A>T	(Likely) benign	2 labs	29fecf0d34
11:118133798 MPZL2 CT>C	11	118133798	118133799	CT	C	MPZL2	c.72del	NM_005797.4	NP_005788.1:p.(Ile24MetfsTer22)	NC_000011.9:g.118133799del	(Likely) pathogenic	2 labs	2a0174be1f
10:73544856 CDH23 C>T	10	73544856	73544856	C	T	CDH23	c.5711C>T	NM_022124.5	NP_071407.4:p.(Thr1904Met)	NC_000010.10:g.73544856C>T	VUS	2 labs	2a037988be
4:6304133 WFS1 G>A	4	6304133	6304133	G	A	WFS1	c.2611G>A	NM_006005.3	NP_005996.2:p.(Val871Met)	NC_000004.11:g.6304133G>A	(Likely) benign	3 labs	2a0633c458
21:34399519 OLIG2 G>A	21	34399519	34399519	G	A	OLIG2	c.349G>A	NM_005806.4	NP_005797.1:p.(Glu117Lys)	NC_000021.8:g.34399519G>A	VUS	2 labs	e7daa3102a
21:46902721 COL18A1 G>A	21	46902721	46902721	G	A	COL18A1	c.2932G>A	NM_130444.3	NP_569711.2:p.(Ala978Thr)	NC_000021.8:g.46902721G>A	VUS	2 labs	2a0a5fda86
4:128814574 PLK4 G>A	4	128814574	128814574	G	A	PLK4	c.2322+1G>A	NM_014264.4	NP_055079.3:p.?	NC_000004.11:g.128814574G>A	(Likely) pathogenic	2 labs	2a0b1e6bda
7:128482362 FLNC C>G	7	128482362	128482362	C	G	FLNC	c.2199C>G	NM_001458.5	NP_001449.3:p.(Thr733=)	NC_000007.13:g.128482362C>G	(Likely) benign	2 labs	2a06cf2d23
17:18023660 MYO15A G>T	17	18023660	18023660	G	T	MYO15A	c.1546G>T	NM_016239.3	NP_057323.3:p.(Glu516Ter)	NC_000017.10:g.18023660G>T	(Likely) pathogenic	2 labs	2a1297e77a
17:7980354 ALOX12B C>A	17	7980354	7980354	C	A	ALOX12B	c.1229G>T	NM_001139.3	NP_001130.1:p.(Cys410Phe)	NC_000017.10:g.7980354C>A	(Likely) benign	2 labs	2a1480a145
3:38648281 SCN5A C>T	3	38648281	38648281	C	T	SCN5A	c.1019G>A	NM_198056.2	NP_932173.1:p.(Arg340Gln)	NC_000003.11:g.38648281C>T	VUS	2 labs	2a15ecccaa
18:55226383 FECH G>C	18	55226383	55226383	G	C	FECH	c.816C>G	NM_001012515.4	NP_001012533.1:p.(Pro272=)	NC_000018.9:g.55226383G>C	(Likely) benign	2 labs	2a1c4f7307
2:179596056 TTN A>T	2	179596056	179596056	A	T	TTN	c.17437T>A	NM_001267550.2	NP_001254479.2:p.(Cys5813Ser)	NC_000002.11:g.179596056A>T	VUS	2 labs	2a1e120b31
7:117305628 CFTR T>C	7	117305628	117305628	T	C	CFTR	c.4242+10T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117305628T>C	(Likely) benign	2 labs	2a2386c7e3
9:133738340 ABL1 A>G	9	133738340	133738340	A	G	ABL1	c.797A>G	NM_007313.2	NP_009297.2:p.(Lys266Arg)	NC_000009.11:g.133738340A>G	(Likely) benign	5 labs	2a2471996a
1:243579112 SDCCAG8 G>A	1	243579112	243579112	G	A	SDCCAG8	c.1725G>A	NM_006642.5	NP_006633.1:p.(Glu575=)	NC_000001.10:g.243579112G>A	(Likely) benign	2 labs	2a2c10d72e
X:32486806 DMD C>G	X	32486806	32486806	C	G	DMD	c.2971G>C	NM_004006.3	NP_003997.2:p.(Glu991Gln)	NC_000023.10:g.32486806C>G	(Likely) benign	6 labs	e7e813489d
2:47672695 MSH2 C>T	2	47672695	47672695	C	T	MSH2	c.1285C>T	NM_000251.3	NP_000242.1:p.(Gln429Ter)	NC_000002.11:g.47672695C>T	(Likely) pathogenic	3 labs	e7ed46b28f
18:29125783 DSG2 G>A	18	29125783	29125783	G	A	DSG2	c.2434G>A	NM_001943.5	NP_001934.2:p.(Gly812Ser)	NC_000018.9:g.29125783G>A	VUS	2 labs	2a2c9b0fce
10:72358621 PRF1 GCTT>G	10	72358621	72358635	GCTT	G	PRF1	c.853_855del	NM_001083116.3	NP_001076585.1:p.(Lys285del)	NC_000010.10:g.72358633_72358635del	(Likely) pathogenic	2 labs	2a374120a2
3:184071213 CLCN2 G>A	3	184071213	184071213	G	A	CLCN2	c.1856-3C>T	NM_004366.5	NP_004357.3:p.?	NC_000003.11:g.184071213G>A	(Likely) benign	2 labs	2a3ef570c5
9:135782683 TSC1 T>C	9	135782683	135782683	T	C	TSC1	c.1333+5A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135782683T>C	(Likely) benign	2 labs	2a4066acd0
X:153594600 FLNA G>A	X	153594600	153594600	G	A	FLNA	c.1229-8C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153594600G>A	(Likely) benign	3 labs	2a505979a3
1:97658753 DPYD T>C	1	97658753	97658753	T	C	DPYD	c.2494A>G	NM_000110.3	NP_000101.2:p.(Thr832Ala)	NC_000001.10:g.97658753T>C	VUS	2 labs	2a5b95a791
3:10183725 VHL C>G	3	10183725	10183725	C	G	VHL	c.194C>G	NM_000551.3	NP_000542.1:p.(Ser65Trp)	NC_000003.11:g.10183725C>G	(Likely) pathogenic	2 labs	2a5c86fd63
13:110831685 COL4A1 G>T	13	110831685	110831685	G	T	COL4A1	c.2277C>A	NM_001845.5	NP_001836.3:p.(Ser759Arg)	NC_000013.10:g.110831685G>T	VUS	2 labs	2a5fa072b3
6:167365973 RNASET2 C>T	6	167365973	167365973	C	T	RNASET2				NC_000006.11:g.167365973C>T	(Likely) benign	2 labs	2a6b0e5f97
19:42776512 CIC A>T	19	42776512	42776512	A	T	CIC	c.577A>T	NM_001304815.1	NP_001291744.1:p.(Thr193Ser)	NC_000019.9:g.42776512A>T	(Likely) benign	2 labs	2a6bbb5767
2:179415947 TTN T>C	2	179415947	179415947	T	C	TTN	c.91311A>G	NM_001267550.2	NP_001254479.2:p.(Glu30437=)	NC_000002.11:g.179415947T>C	(Likely) benign	3 labs	e7f2a77e9c
2:189862995 COL3A1 T>C	2	189862995	189862995	T	C	COL3A1	c.1927T>C	NM_000090.4	NP_000081.2:p.(Leu643=)	NC_000002.11:g.189862995T>C	(Likely) benign	2 labs	2a6bbe1a29
9:101518763 ANKS6 C>T	9	101518763	101518763	C	T	ANKS6	c.2265G>A	NM_173551.5	NP_775822.3:p.(Ser755=)	NC_000009.11:g.101518763C>T	(Likely) benign	3 labs	e7f69dbfe2
X:106893247 PRPS1 C>T	X	106893247	106893247	C	T	PRPS1	c.942C>T	NM_002764.4	NP_002755.1:p.(Ser314=)	NC_000023.10:g.106893247C>T	(Likely) benign	2 labs	2a7bdcdf2a
2:47221522 TTC7A C>G	2	47221522	47221522	C	G	TTC7A	c.870C>G	NM_001288951.1	NP_001275880.1:p.(Val290=)	NC_000002.11:g.47221522C>G	(Likely) benign	2 labs	2a846f8fbf
15:51028388 SPPL2A C>T	15	51028388	51028388	C	T	SPPL2A	c.842G>A	NM_032802.4	NP_116191.2:p.(Arg281His)	NC_000015.9:g.51028388C>T	(Likely) benign	2 labs	2a86aeb8d0
8:145583976 SLC52A2 G>T	8	145583976	145583976	G	T	SLC52A2	c.824G>T	NM_001253815.1	NP_001240744.1:p.(Arg275Leu)	NC_000008.10:g.145583976G>T	VUS	2 labs	2a876a9176
10:68940230 CTNNA3 G>C	10	68940230	68940230	G	C	CTNNA3	c.892C>G	NM_013266.3	NP_037398.2:p.(Pro298Ala)	NC_000010.10:g.68940230G>C	VUS	2 labs	2a880f0321
19:33980949 PEPD C>T	19	33980949	33980949	C	T	PEPD	c.456G>A	NM_000285.3	NP_000276.2:p.(Thr152=)	NC_000019.9:g.33980949C>T	(Likely) benign	2 labs	2a88b3072e
19:51857774 ETFB T>G	19	51857774	51857774	T	G	ETFB	c.119A>C	NM_001014763.1	NP_001014763.1:p.(Glu40Ala)	NC_000019.9:g.51857774T>G	(Likely) benign	2 labs	2a95e0dfdf
13:39435638 FREM2 C>T	13	39435638	39435638	C	T	FREM2	c.7590C>T	NM_207361.5	NP_997244.4:p.(Gly2530=)	NC_000013.10:g.39435638C>T	(Likely) benign	2 labs	2a96ec9c41
1:43396544 SLC2A1 A>G	1	43396544	43396544	A	G	SLC2A1	c.276-7T>C	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43396544A>G	(Likely) benign	2 labs	2a99c51e55
16:10032401 GRIN2A G>A	16	10032401	10032401	G	A	GRIN2A	c.422C>T	NM_001134407.3	NP_001127879.1:p.(Thr141Met)	NC_000016.9:g.10032401G>A	(Likely) benign	3 labs	2aa016f1df
18:7046293 LAMA1 C>T	18	7046293	7046293	C	T	LAMA1	c.842G>A	NM_005559.3	NP_005550.2:p.(Trp281Ter)	NC_000018.9:g.7046293C>T	(Likely) pathogenic	2 labs	2a9d53194a
5:7873566 MTRR C>G	5	7873566	7873566	C	G	MTRR	c.210C>G	NM_001364440.2	NP_001351369.1:p.(Arg70=)	NC_000005.9:g.7873566C>G	(Likely) benign	2 labs	2a9ac24209
X:48382396 EBP C>G	X	48382396	48382396	C	G	EBP	c.237C>G	NM_006579.2	NP_006570.1:p.(Ile79Met)	NC_000023.10:g.48382396C>G	VUS	2 labs	2aa917d12b
8:145012788 PLEC GC>G	8	145012788	145012789	GC	G	PLEC	c.174+10del	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145012789del	(Likely) benign	2 labs	2aba716611
12:25368380 KRAS T>G	12	25368380	25368380	T	G	KRAS	c.565A>C	NM_001369786.1	NP_001356715.1:p.(Met189Leu)	NC_000012.11:g.25368380T>G	(Likely) benign	6 labs	2aae4d60a0
22:25603127 CRYBB3 G>A	22	25603127	25603127	G	A	CRYBB3	c.584G>A	NM_004076.4	NP_004067.1:p.(Arg195His)	NC_000022.10:g.25603127G>A	VUS	2 labs	2aafaa0c75
11:103055608 DYNC2H1 C>T	11	103055608	103055608	C	T	DYNC2H1	c.6478-17C>T	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103055608C>T	(Likely) benign	2 labs	2ab25a9576
1:247582309 NLRP3 C>T	1	247582309	247582309	C	T	NLRP3	c.207C>T	NM_001243133.1	NP_001230062.1:p.(Ala69=)	NC_000001.10:g.247582309C>T	(Likely) benign	3 labs	2ab35fd7bf
4:184614210 TRAPPC11 C>G	4	184614210	184614210	C	G	TRAPPC11	c.2147C>G	NM_021942.5	NP_068761.4:p.(Ala716Gly)	NC_000004.11:g.184614210C>G	(Likely) benign	3 labs	2ac2c3672c
19:45854919 ERCC2 T>G	19	45854919	45854919	T	G	ERCC2	c.2251A>C	NM_000400.4	NP_000391.1:p.(Lys751Gln)	NC_000019.9:g.45854919T>G	(Likely) benign	2 labs	2acf9683c8
2:166770071 TTC21B T>C	2	166770071	166770071	T	C	TTC21B	c.2211+13A>G	NM_024753.4	NP_079029.3:p.?	NC_000002.11:g.166770071T>C	(Likely) benign	2 labs	2ac8b2814b
7:116436127 MET C>T	7	116436127	116436127	C	T	MET	c.4176C>T	NM_001127500.1	NP_001120972.1:p.(Asn1392=)	NC_000007.13:g.116436127C>T	(Likely) benign	2 labs	2ad3539bda
2:73826621 ALMS1 C>T	2	73826621	73826621	C	T	ALMS1	c.11644C>T	NM_015120.4	NP_055935.4:p.(His3882Tyr)	NC_000002.11:g.73826621C>T	(Likely) benign	4 labs	2ad64f965e
14:91808812 CCDC88C G>A	14	91808812	91808812	G	A	CCDC88C	c.400-5C>T	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91808812G>A	(Likely) benign	2 labs	2ad7e088bc
X:153640406 TAFAZZIN C>T	X	153640406	153640406	C	T	TAFAZZIN	c.110-17C>T	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640406C>T	(Likely) benign	2 labs	2adf241a5c
5:36677074 SLC1A3 T>C	5	36677074	36677074	T	C	SLC1A3	c.648T>C	NM_004172.4	NP_004163.3:p.(Asn216=)	NC_000005.9:g.36677074T>C	(Likely) benign	2 labs	2ae01fab62
7:151372600 PRKAG2 G>A	7	151372600	151372600	G	A	PRKAG2	c.590C>T	NM_016203.4	NP_057287.2:p.(Pro197Leu)	NC_000007.13:g.151372600G>A	VUS	2 labs	2ae0ec56ec
1:213068595 FLVCR1 C>T	1	213068595	213068595	C	T	FLVCR1	c.1631C>T	NM_014053.4	NP_054772.1:p.(Thr544Met)	NC_000001.10:g.213068595C>T	(Likely) benign	4 labs	2ae95b1449
17:27062353 NEK8 C>T	17	27062353	27062353	C	T	NEK8	c.582C>T	NM_178170.3	NP_835464.1:p.(Tyr194=)	NC_000017.10:g.27062353C>T	(Likely) benign	2 labs	2aeb6e8bb6
22:21348499 LZTR1 G>C	22	21348499	21348499	G	C	LZTR1	c.1556G>C	NM_006767.3	NP_006758.2:p.(Arg519Pro)	NC_000022.10:g.21348499G>C	VUS	2 labs	2aeb7b9986
17:8790433 PIK3R5 G>A	17	8790433	8790433	G	A	PIK3R5	c.727C>T	NM_001251851.2	NP_001238780.1:p.(Pro243Ser)	NC_000017.10:g.8790433G>A	(Likely) benign	2 labs	2ae897479d
17:41245141 BRCA1 TCA>T	17	41245141	41245147	TCA	T	BRCA1	c.2405_2406del	NM_007294.4	NP_009225.1:p.(Val802GlufsTer7)	NC_000017.10:g.41245146_41245147del	(Likely) pathogenic	2 labs	2af5ca254c
X:70367908 NLGN3 C>T	X	70367908	70367908	C	T	NLGN3	c.309C>T	NM_181303.1	NP_851820.1:p.(Pro103=)	NC_000023.10:g.70367908C>T	(Likely) benign	2 labs	2af7714c5f
16:1509171 CLCN7 G>A	16	1509171	1509171	G	A	CLCN7	c.612C>T	NM_001287.5	NP_001278.1:p.(Ser204=)	NC_000016.9:g.1509171G>A	(Likely) benign	2 labs	2af89bf314
13:20763472 GJB2 G>C	13	20763472	20763472	G	C	GJB2	c.249C>G	NM_004004.6	NP_003995.2:p.(Phe83Leu)	NC_000013.10:g.20763472G>C	(Likely) benign	2 labs	2b04d38602
19:12918311 RNASEH2A C>T	19	12918311	12918311	C	T	RNASEH2A	c.402C>T	NM_006397.2	NP_006388.2:p.(Asn134=)	NC_000019.9:g.12918311C>T	(Likely) benign	2 labs	2b0bab974f
10:26986764 PDSS1 G>A	10	26986764	26986764	G	A	PDSS1	c.124G>A	NM_014317.4	NP_055132.2:p.(Ala42Thr)	NC_000010.10:g.26986764G>A	(Likely) benign	2 labs	2b1206f568
1:78383380 NEXN G>A	1	78383380	78383380	G	A	NEXN	c.157G>A	NM_144573.4	NP_653174.3:p.(Glu53Lys)	NC_000001.10:g.78383380G>A	VUS	3 labs	e809816cd8
3:184075587 CLCN2 G>A	3	184075587	184075587	G	A	CLCN2	c.673C>T	NM_004366.5	NP_004357.3:p.(Leu225Phe)	NC_000003.11:g.184075587G>A	(Likely) benign	2 labs	2b1badda80
11:121037320 TECTA G>A	11	121037320	121037320	G	A	TECTA	c.5417G>A	NM_005422.2	NP_005413.2:p.(Cys1806Tyr)	NC_000011.9:g.121037320G>A	VUS	2 labs	2b22e0bd2d
7:75614288 POR C>T	7	75614288	75614288	C	T	POR	c.1248+12C>T	NM_001382658.1	NP_001369587.1:p.?	NC_000007.13:g.75614288C>T	(Likely) benign	2 labs	e80eff97ff
1:17313454 ATP13A2 G>A	1	17313454	17313454	G	A	ATP13A2	c.3084-3C>T	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17313454G>A	(Likely) benign	4 labs	e8116bac3b
2:179539033 TTN G>T	2	179539033	179539033	G	T	TTN	c.34708+8C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179539033G>T	(Likely) benign	3 labs	2b26e99798
12:49580180 TUBA1A T>C	12	49580180	49580180	T	C	TUBA1A	c.288A>G	NM_006009.3	NP_006000.2:p.(Lys96=)	NC_000012.11:g.49580180T>C	(Likely) benign	2 labs	2b3467bf4e
1:247588351 NLRP3 C>T	1	247588351	247588351	C	T	NLRP3	c.1600C>T	NM_001243133.1	NP_001230062.1:p.(Leu534=)	NC_000001.10:g.247588351C>T	(Likely) benign	2 labs	2b375b4566
7:138429851 ATP6V0A4 T>C	7	138429851	138429851	T	C	ATP6V0A4	c.1478+17A>G	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138429851T>C	(Likely) benign	2 labs	e814a99053
19:45888994 PPP1R13L TGGGGGTGG>T	19	45888994	45889006	TGGGGGTGG	T	PPP1R13L	c.2082-16_2082-9del	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45888999_45889006del	(Likely) benign	2 labs	2b49586b98
5:127641196 FBN2 T>C	5	127641196	127641196	T	C	FBN2	c.5674+7A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641196T>C	(Likely) benign	5 labs	2b43c01bfc
14:23855839 MYH6 A>T	14	23855839	23855839	A	T	MYH6	c.4651-7T>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23855839A>T	(Likely) benign	2 labs	2b53c15690
14:23856852 MYH6 C>T	14	23856852	23856852	C	T	MYH6	c.4536G>A	NM_002471.4	NP_002462.2:p.(Ser1512=)	NC_000014.8:g.23856852C>T	(Likely) benign	2 labs	e81ad1c609
12:103249059 PAH C>T	12	103249059	103249059	C	T	PAH	c.561G>A	NM_000277.3	NP_000268.1:p.(Trp187Ter)	NC_000012.11:g.103249059C>T	(Likely) pathogenic	4 labs	2b5f635795
X:48547748 WAS C>T	X	48547748	48547748	C	T	WAS	c.1378C>T	NM_000377.2	NP_000368.1:p.(Pro460Ser)	NC_000023.10:g.48547748C>T	(Likely) benign	4 labs	2b6ca49e8a
X:153609246 EMD C>T	X	153609246	153609246	C	T	EMD	c.454C>T	NM_000117.3	NP_000108.1:p.(Arg152Cys)	NC_000023.10:g.153609246C>T	VUS	5 labs	2b776d709c
X:108868195 KCNE5 C>A	X	108868195	108868195	C	A	KCNE5	c.55G>T	NM_012282.4	NP_036414.1:p.(Glu19Ter)	NC_000023.10:g.108868195C>A	VUS	2 labs	e826737308
5:13839459 DNAH5 C>T	5	13839459	13839459	C	T	DNAH5	c.5882+6G>A	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13839459C>T	(Likely) benign	2 labs	2b7d2bfe0f
22:29091203 CHEK2 C>T	22	29091203	29091203	C	T	CHEK2	c.1287G>A	NM_007194.4	NP_009125.1:p.(Glu429=)	NC_000022.10:g.29091203C>T	(Likely) benign	2 labs	2b81163f6e
11:61131964 TMEM138 T>A	11	61131964	61131964	T	A	TMEM138	c.102T>A	NM_016464.4	NP_057548.1:p.(Thr34=)	NC_000011.9:g.61131964T>A	(Likely) benign	2 labs	2b839c26af
5:89930940 ADGRV1 G>A	5	89930940	89930940	G	A	ADGRV1	c.1849G>A	NM_032119.4	NP_115495.3:p.(Val617Met)	NC_000005.9:g.89930940G>A	VUS	2 labs	2b87804bd6
19:13322943 CACNA1A T>C	19	13322943	13322943	T	C	CACNA1A	c.6295A>G	NM_023035.2	NP_075461.2:p.(Met2099Val)	NC_000019.9:g.13322943T>C	(Likely) benign	2 labs	2b8b3f0653
16:88494604 ZNF469 C>T	16	88494604	88494604	C	T	ZNF469	c.726C>T	NM_001367624.2	NP_001354553.1:p.(Ser242=)	NC_000016.9:g.88494604C>T	(Likely) benign	2 labs	2b87ac8760
22:36702031 MYH9 G>A	22	36702031	36702031	G	A	MYH9	c.2104C>T	NM_002473.5	NP_002464.1:p.(Arg702Cys)	NC_000022.10:g.36702031G>A	(Likely) pathogenic	2 labs	2b919cf1fe
5:127599155 FBN2 G>A	5	127599155	127599155	G	A	FBN2	c.8154C>T	NM_001999.4	NP_001990.2:p.(Leu2718=)	NC_000005.9:g.127599155G>A	(Likely) benign	2 labs	2b8f5ac317
8:41559609 ANK1 G>A	8	41559609	41559609	G	A	ANK1	c.2448C>T	NM_001142446.2	NP_001135918.1:p.(Thr816=)	NC_000008.10:g.41559609G>A	(Likely) benign	2 labs	e8309d5642
2:179615199 TTN C>T	2	179615199	179615199	C	T	TTN	c.11928G>A	NM_133379.5	NP_596870.2:p.(Thr3976=)	NC_000002.11:g.179615199C>T	(Likely) benign	4 labs	e8349ae504
22:38524383 PLA2G6 C>A	22	38524383	38524383	C	A	PLA2G6	c.1241G>T	NM_003560.4	NP_003551.2:p.(Cys414Phe)	NC_000022.10:g.38524383C>A	(Likely) benign	2 labs	2b9cd1465e
2:179480447 TTN AAAT>A	2	179480447	179480452	AAAT	A	TTN	c.48378_48380del	NM_001267550.2	NP_001254479.2:p.(Leu16126del)	NC_000002.11:g.179480450_179480452del	VUS	4 labs	2bafdae211
1:228494208 OBSCN A>G	1	228494208	228494208	A	G	OBSCN	c.14666A>G	NM_001271223.2	NP_001258152.2:p.(Asn4889Ser)	NC_000001.10:g.228494208A>G	(Likely) benign	2 labs	2bae033888
16:81398581 GAN C>T	16	81398581	81398581	C	T	GAN	c.1239C>T	NM_022041.4	NP_071324.1:p.(Ile413=)	NC_000016.9:g.81398581C>T	(Likely) benign	2 labs	2ba9bb5478
2:48010558 MSH6 C>A	2	48010558	48010558	C	A	MSH6	c.186C>A	NM_000179.3	NP_000170.1:p.(Arg62=)	NC_000002.11:g.48010558C>A	(Likely) benign	4 labs	2bb1a6e538
11:103270607 DYNC2H1 G>A	11	103270607	103270607	G	A	DYNC2H1	c.12387+7G>A	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103270607G>A	(Likely) benign	3 labs	2bc182275d
6:112455686 LAMA4 T>C	6	112455686	112455686	T	C	LAMA4	c.3540A>G	NM_001105206.2	NP_001098676.2:p.(Pro1180=)	NC_000006.11:g.112455686T>C	(Likely) benign	2 labs	2bbce70568
13:32912174 BRCA2 A>G	13	32912174	32912174	A	G	BRCA2	c.3682A>G	NM_000059.4	NP_000050.3:p.(Asn1228Asp)	NC_000013.10:g.32912174A>G	(Likely) benign	5 labs	2bba32aa8e
13:111141818 COL4A2 A>C	13	111141818	111141818	A	C	COL4A2	c.3234A>C	NM_001846.3	NP_001837.2:p.(Ala1078=)	NC_000013.10:g.111141818A>C	(Likely) benign	2 labs	2bcbfd0814
9:100455946 XPA C>CTT	9	100455946	100455950	C	CTT	XPA	c.266_267dup	NM_000380.3	NP_000371.1:p.(Val90LysfsTer15)	NC_000009.11:g.100455949_100455950dup	(Likely) pathogenic	2 labs	2bcf215b4b
15:90294304 MESP1 C>CG	15	90294304	90294305	C	CG	MESP1	c.158dup	NM_018670.3	NP_061140.1:p.(Ser54GlufsTer18)	NC_000015.9:g.90294305dup	(Likely) benign	2 labs	2bd15d3fb9
15:68500491 CLN6 C>G	15	68500491	68500491	C	G	CLN6	c.923G>C	NM_017882.2	NP_060352.1:p.(Ser308Thr)	NC_000015.9:g.68500491C>G	(Likely) benign	2 labs	2bd1b6883c
2:179429917 TTN C>T	2	179429917	179429917	C	T	TTN	c.80942G>A	NM_001267550.2	NP_001254479.2:p.(Arg26981Gln)	NC_000002.11:g.179429917C>T	VUS	3 labs	2bd2100ed9
1:207648456 CR2 G>T	1	207648456	207648456	G	T	CR2	c.2611G>T	NM_001006658.2	NP_001006659.1:p.(Val871Leu)	NC_000001.10:g.207648456G>T	(Likely) benign	3 labs	2bdcfe7f29
6:56918561 KIAA1586 C>T	6	56918561	56918561	C	T	KIAA1586	c.1264C>T	NM_020931.4	NP_065982.1:p.(Arg422Ter)	NC_000006.11:g.56918561C>T	VUS	2 labs	2be07f6bae
8:48691068 PRKDC G>A	8	48691068	48691068	G	A	PRKDC	c.11805C>T	NM_006904.6	NP_008835.5:p.(Gly3935=)	NC_000008.10:g.48691068G>A	(Likely) benign	2 labs	2be2179f0c
17:39925925 JUP A>G	17	39925925	39925925	A	G	JUP	c.213T>C	NM_002230.4	NP_002221.1:p.(Asp71=)	NC_000017.10:g.39925925A>G	(Likely) benign	5 labs	2be6cbd30b
X:12736436 FRMPD4 A>T	X	12736436	12736436	A	T	FRMPD4	c.3491A>T	NM_014728.3	NP_055543.2:p.(Asp1164Val)	NC_000023.10:g.12736436A>T	(Likely) benign	2 labs	2bf019765e
8:11565876 GATA4 G>A	8	11565876	11565876	G	A	GATA4	c.55G>A	NM_002052.5	NP_002043.2:p.(Glu19Lys)	NC_000008.10:g.11565876G>A	VUS	2 labs	2bf57de521
6:51923408 PKHD1 A>G	6	51923408	51923408	A	G	PKHD1	c.1234-9T>C	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51923408A>G	(Likely) benign	3 labs	2bff6d19a0
X:48382197 EBP C>G	X	48382197	48382197	C	G	EBP	c.38C>G	NM_006579.3	NP_006570.1:p.(Pro13Arg)	NC_000023.10:g.48382197C>G	VUS	2 labs	2c045065b8
9:139266519 CARD9 G>A	9	139266519	139266519	G	A	CARD9	c.12C>T	NM_052813.4	NP_434700.2:p.(Tyr4=)	NC_000009.11:g.139266519G>A	(Likely) benign	2 labs	2c0422aaa0
10:55780140 PCDH15 G>A	10	55780140	55780140	G	A	PCDH15				NC_000010.10:g.55780140G>A	VUS	2 labs	2c0445b389
7:151944981 KMT2C C>T	7	151944981	151944981	C	T	KMT2C	c.2532+6G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944981C>T	(Likely) benign	2 labs	2c0a4057e8
16:57685261 ADGRG1 C>T	16	57685261	57685261	C	T	ADGRG1	c.214C>T	NM_001145772.2	NP_001139244.1:p.(Pro72Ser)	NC_000016.9:g.57685261C>T	(Likely) benign	2 labs	2c095b8c56
12:65134383 GNS TA>T	12	65134383	65134384	TA	T	GNS	c.875+2del	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65134384del	(Likely) pathogenic	2 labs	2c11163bb7
12:80771734 OTOGL G>A	12	80771734	80771734	G	A	OTOGL	c.6941G>A	NM_173591.3	NP_775862.3:p.(Arg2314Gln)	NC_000012.11:g.80771734G>A	VUS	2 labs	2c0bc3e778
11:6630524 ILK C>T	11	6630524	6630524	C	T	ILK	c.619-6C>T	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6630524C>T	(Likely) benign	2 labs	2c0c4d8a29
X:135825865 ARHGEF6 T>C	X	135825865	135825865	T	C	ARHGEF6	c.540A>G	NM_004840.2	NP_004831.1:p.(Ser180=)	NC_000023.10:g.135825865T>C	(Likely) benign	2 labs	2c0dec2f75
1:94483922 ABCA4 G>T	1	94483922	94483922	G	T	ABCA4	c.5196+1216C>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94483922G>T	(Likely) pathogenic	2 labs	2c0ecad138
19:42776354 CIC G>A	19	42776354	42776354	G	A	CIC	c.419G>A	NM_001304815.1	NP_001291744.1:p.(Arg140Gln)	NC_000019.9:g.42776354G>A	(Likely) benign	2 labs	2c139452cd
14:23902789 MYH7 G>A	14	23902789	23902789	G	A	MYH7	c.153C>T	NM_000257.2	NP_000248.2:p.(Ile51=)	NC_000014.8:g.23902789G>A	(Likely) benign	2 labs	2c14c28cbf
17:73826436 UNC13D C>T	17	73826436	73826436	C	T	UNC13D	c.2830+7G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73826436C>T	(Likely) benign	2 labs	2c19095812
17:3402354 ASPA C>A	17	3402354	3402354	C	A	ASPA	c.914C>A	NM_000049.4	NP_000040.1:p.(Ala305Glu)	NC_000017.10:g.3402354C>A	(Likely) pathogenic	2 labs	e8527c01a1
17:36492955 GPR179 G>A	17	36492955	36492955	G	A	GPR179	c.1133C>T	NM_001004334.4	NP_001004334.3:p.(Ala378Val)	NC_000017.10:g.36492955G>A	(Likely) benign	2 labs	2c2412998a
22:36745146 MYH9 G>A	22	36745146	36745146	G	A	MYH9	c.136C>T	NM_002473.5	NP_002464.1:p.(Leu46Phe)	NC_000022.10:g.36745146G>A	(Likely) benign	3 labs	2c316dc58a
1:245026949 HNRNPU C>CTCCGCCGCCT	1	245026949	245026965	C	CTCCGCCGCCT	HNRNPU	c.651_660dup	NM_031844.3	NP_114032.2:p.(Gly221ArgfsTer25)	NC_000001.10:g.245026956_245026965dup	(Likely) pathogenic	2 labs	e85f89194c
4:26322320 RBPJ A>C	4	26322320	26322320	A	C	RBPJ	c.-57-2A>C	NM_005349.3	NP_005340.2:p.?	NC_000004.11:g.26322320A>C	(Likely) benign	2 labs	2c3ff05e9f
8:62555482 ASPH G>GA	8	62555482	62555492	G	GA	ASPH	c.758-4dup	NM_004318.3	NP_004309.2:p.?	NC_000008.10:g.62555492dup	(Likely) benign	2 labs	2c423cae5d
6:32818816 TAP1 T>G	6	32818816	32818816	T	G	TAP1	c.1135A>C	NM_000593.5	NP_000584.2:p.(Ile379Leu)	NC_000006.11:g.32818816T>G	(Likely) benign	2 labs	2c42415f7c
14:74975353 LTBP2 C>A	14	74975353	74975353	C	A	LTBP2	c.3606G>T	NM_000428.3	NP_000419.1:p.(Leu1202=)	NC_000014.8:g.74975353C>A	(Likely) benign	2 labs	2c53c67503
12:49418607 KMT2D G>A	12	49418607	49418607	G	A	KMT2D	c.15907C>T	NM_003482.4	NP_003473.3:p.(Arg5303Cys)	NC_000012.11:g.49418607G>A	VUS	2 labs	e869bae843
2:73677548 ALMS1 A>G	2	73677548	73677548	A	G	ALMS1	c.3897A>G	NM_015120.4	NP_055935.4:p.(Gln1299=)	NC_000002.11:g.73677548A>G	(Likely) benign	2 labs	e86ba945d6
14:68221935 ZFYVE26 C>T	14	68221935	68221935	C	T	ZFYVE26	c.6819G>A	NM_015346.3	NP_056161.2:p.(Arg2273=)	NC_000014.8:g.68221935C>T	(Likely) benign	3 labs	2c5c65465e
11:68177465 LRP5 T>C	11	68177465	68177465	T	C	LRP5	c.432T>C	NM_001291902.1	NP_001278831.1:p.(Val144=)	NC_000011.9:g.68177465T>C	(Likely) benign	2 labs	2c63d63a91
4:6303154 WFS1 C>T	4	6303154	6303154	C	T	WFS1	c.1632C>T	NM_006005.3	NP_005996.2:p.(Ser544=)	NC_000004.11:g.6303154C>T	(Likely) benign	2 labs	2c66daaf1d
1:2160232 SKI C>A	1	2160232	2160232	C	A	SKI	c.27C>A	NM_003036.3	NP_003027.1:p.(Gly9=)	NC_000001.10:g.2160232C>A	(Likely) benign	2 labs	2c6da93235
6:66005970 EYS G>A	6	66005970	66005970	G	A	EYS	c.1809C>T	NM_001142800.2	NP_001136272.1:p.(Val603=)	NC_000006.11:g.66005970G>A	(Likely) benign	3 labs	2c76355b6a
6:161132103 PLG C>A	6	161132103	161132103	C	A	PLG	c.293-6C>A	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161132103C>A	(Likely) benign	2 labs	e86dda79d5
5:13931340 DNAH5 C>T	5	13931340	13931340	C	T	DNAH5	c.71G>A	NM_001369.3	NP_001360.1:p.(Gly24Glu)	NC_000005.9:g.13931340C>T	(Likely) benign	2 labs	2c8fd77a9f
17:29559871 NF1 C>T	17	29559871	29559871	C	T	NF1	c.3468C>T	NM_001042492.3	NP_001035957.1:p.(Asn1156=)	NC_000017.10:g.29559871C>T	(Likely) benign	4 labs	2c96c1c1c9
2:179427803 TTN C>T	2	179427803	179427803	C	T	TTN	c.83056G>A	NM_001267550.2	NP_001254479.2:p.(Val27686Ile)	NC_000002.11:g.179427803C>T	(Likely) benign	5 labs	e86f8efb77
7:99703153 AP4M1 G>C	7	99703153	99703153	G	C	AP4M1	c.920G>C	NM_004722.3	NP_004713.2:p.(Gly307Ala)	NC_000007.13:g.99703153G>C	VUS	2 labs	2c98d401ea
13:32907098 BRCA2 G>A	13	32907098	32907098	G	A	BRCA2	c.1483G>A	NM_000059.4	NP_000050.3:p.(Ala495Thr)	NC_000013.10:g.32907098G>A	(Likely) benign	3 labs	2c95e3d881
19:42799299 CIC T>C	19	42799299	42799299	T	C	CIC	c.7510T>C	NM_001304815.2	NP_001291744.1:p.(Ser2504Pro)	NC_000019.9:g.42799299T>C	(Likely) benign	3 labs	2ca14bf9cb
7:4830822 AP5Z1 G>A	7	4830822	4830822	G	A	AP5Z1	c.2230G>A	NM_014855.3	NP_055670.1:p.(Ala744Thr)	NC_000007.13:g.4830822G>A	(Likely) benign	2 labs	2ca4190be1
1:156108574 LMNA A>G	1	156108574	156108574	A	G	LMNA				NC_000001.10:g.156108574A>G	(Likely) benign	2 labs	2ca6bfa263
7:103131196 RELN T>G	7	103131196	103131196	T	G	RELN	c.9524A>C	NM_005045.4	NP_005036.2:p.(His3175Pro)	NC_000007.13:g.103131196T>G	(Likely) benign	2 labs	2ca419644a
9:1051642 DMRT2 C>A	9	1051642	1051642	C	A	DMRT2	c.29C>A	NM_006557.6	NP_006548.1:p.(Ala10Asp)	NC_000009.11:g.1051642C>A	(Likely) benign	2 labs	2cab80a4b6
4:186423550 PDLIM3 G>T	4	186423550	186423550	G	T	PDLIM3	c.993C>A	NM_014476.5	NP_055291.2:p.(Gly331=)	NC_000004.11:g.186423550G>T	(Likely) benign	2 labs	2cb2aed87e
6:56394374 DST C>G	6	56394374	56394374	C	G	DST	c.11110G>C	NM_001144769.5	NP_001138241.1:p.(Ala3704Pro)	NC_000006.11:g.56394374C>G	VUS	2 labs	2cb3ac6d5b
16:1250440 CACNA1H G>A	16	1250440	1250440	G	A	CACNA1H	c.988G>A	NM_021098.2	NP_066921.2:p.(Val330Met)	NC_000016.9:g.1250440G>A	(Likely) benign	2 labs	2cc076338b
2:45169352 SIX3 G>T	2	45169352	45169352	G	T	SIX3	c.109G>T	NM_005413.3	NP_005404.1:p.(Gly37Cys)	NC_000002.11:g.45169352G>T	(Likely) benign	2 labs	2cc0ddbc53
18:28673565 DSC2 T>C	18	28673565	28673565	T	C	DSC2	c.111A>G	NM_004949.5	NP_004940.1:p.(Leu37=)	NC_000018.9:g.28673565T>C	(Likely) benign	5 labs	2cc37a1fa9
3:123440993 MYLK C>T	3	123440993	123440993	C	T	MYLK	c.1786G>A	NM_053025.4	NP_444253.3:p.(Ala596Thr)	NC_000003.11:g.123440993C>T	VUS	3 labs	2ccfff9b9d
3:132441046 NPHP3 C>T	3	132441046	132441046	C	T	NPHP3	c.154G>A	NM_153240.4	NP_694972.3:p.(Ala52Thr)	NC_000003.11:g.132441046C>T	(Likely) benign	3 labs	2ccc8fa4a8
18:29101073 DSG2 C>T	18	29101073	29101073	C	T	DSG2	c.390C>T	NM_001943.5	NP_001934.2:p.(Tyr130=)	NC_000018.9:g.29101073C>T	(Likely) benign	4 labs	e87f0388c1
4:6303197 WFS1 G>A	4	6303197	6303197	G	A	WFS1	c.1675G>A	NM_006005.3	NP_005996.2:p.(Ala559Thr)	NC_000004.11:g.6303197G>A	(Likely) benign	4 labs	2cc94a8da6
12:6122734 VWF C>T	12	6122734	6122734	C	T	VWF	c.5533G>A	NM_000552.3	NP_000543.2:p.(Asp1845Asn)	NC_000012.11:g.6122734C>T	(Likely) benign	2 labs	2cdf483f44
5:180045911 FLT4 G>A	5	180045911	180045911	G	A	FLT4	c.2860C>T	NM_182925.5	NP_891555.2:p.(Pro954Ser)	NC_000005.9:g.180045911G>A	(Likely) benign	2 labs	e8854179bd
19:50367293 PNKP G>A	19	50367293	50367293	G	A	PNKP	c.672C>T	NM_007254.4	NP_009185.2:p.(Arg224=)	NC_000019.9:g.50367293G>A	(Likely) benign	3 labs	e886947ae2
3:197431479 RUBCN G>A	3	197431479	197431479	G	A	RUBCN	c.217C>T	NM_001145642.4	NP_001139114.1:p.(His73Tyr)	NC_000003.11:g.197431479G>A	VUS	3 labs	2ce941c8a8
2:241534088 CAPN10 C>T	2	241534088	241534088	C	T	CAPN10	c.959C>T	NM_023083.4	NP_075571.2:p.(Pro320Leu)	NC_000002.11:g.241534088C>T	VUS	2 labs	2cf7964d92
5:77406104 AP3B1 A>T	5	77406104	77406104	A	T	AP3B1	c.2177T>A	NM_001271769.1	NP_001258698.1:p.(Ile726Lys)	NC_000005.9:g.77406104A>T	(Likely) benign	2 labs	2cf8512c81
X:153648381 TAFAZZIN C>T	X	153648381	153648381	C	T	TAFAZZIN	c.594C>T	NM_000116.5	NP_000107.1:p.(Arg198=)	NC_000023.10:g.153648381C>T	(Likely) benign	3 labs	e886d39916
X:152037558 NSDHL C>T	X	152037558	152037558	C	T	NSDHL	c.1020C>T	NM_001129765.1	NP_001123237.1:p.(Cys340=)	NC_000023.10:g.152037558C>T	(Likely) benign	3 labs	2d0721ded9
9:120475735 TLR4 C>T	9	120475735	120475735	C	T	TLR4	c.1209C>T	NM_003266.3	NP_003257.1:p.(Phe403=)	NC_000009.11:g.120475735C>T	(Likely) benign	2 labs	2d0aefb57f
11:2191088 TH A>G	11	2191088	2191088	A	G	TH	c.197T>C	NM_199292.3	NP_954986.2:p.(Ile66Thr)	NC_000011.9:g.2191088A>G	(Likely) benign	2 labs	2d0aa3b026
X:153596033 FLNA C>T	X	153596033	153596033	C	T	FLNA	c.696G>A	NM_001110556.2	NP_001104026.1:p.(Ala232=)	NC_000023.10:g.153596033C>T	(Likely) benign	2 labs	2d0f243e95
4:149357475 NR3C2 C>T	4	149357475	149357475	C	T	NR3C2	c.538G>A	NM_000901.5	NP_000892.2:p.(Val180Ile)	NC_000004.11:g.149357475C>T	(Likely) benign	2 labs	e887a98767
16:2345709 ABCA3 G>A	16	2345709	2345709	G	A	ABCA3	c.2296C>T	NM_001089.3	NP_001080.2:p.(Pro766Ser)	NC_000016.9:g.2345709G>A	VUS	2 labs	e88f4b1b5f
4:126240485 FAT4 C>T	4	126240485	126240485	C	T	FAT4	c.2919C>T	NM_024582.4	NP_078858.4:p.(Val973=)	NC_000004.11:g.126240485C>T	(Likely) benign	2 labs	2d27af6a61
16:89347676 ANKRD11 G>A	16	89347676	89347676	G	A	ANKRD11	c.5274C>T	NM_001256182.1	NP_001243111.1:p.(Pro1758=)	NC_000016.9:g.89347676G>A	(Likely) benign	2 labs	2d399751e0
11:17650687 OTOG T>C	11	17650687	17650687	T	C	OTOG	c.6572T>C	NM_001277269.1	NP_001264198.1:p.(Val2191Ala)	NC_000011.9:g.17650687T>C	VUS	2 labs	2d42046cc7
15:28414784 HERC2 C>A	15	28414784	28414784	C	A	HERC2	c.10075G>T	NM_004667.6	NP_004658.3:p.(Asp3359Tyr)	NC_000015.9:g.28414784C>A	VUS	2 labs	2d494cf91b
X:106117019 TBC1D8B G>A	X	106117019	106117019	G	A	TBC1D8B	c.3187G>A	NM_017752.2	NP_060222.2:p.(Glu1063Lys)	NC_000023.10:g.106117019G>A	(Likely) benign	2 labs	2d48c65ce8
2:128050240 ERCC3 G>A	2	128050240	128050240	G	A	ERCC3	c.417C>T	NM_000122.1	NP_000113.1:p.(Tyr139=)	NC_000002.11:g.128050240G>A	(Likely) benign	2 labs	2d490a42a3
22:29121079 CHEK2 T>C	22	29121079	29121079	T	C	CHEK2	c.478A>G	NM_007194.4	NP_009125.1:p.(Ile160Val)	NC_000022.10:g.29121079T>C	VUS	2 labs	e897ec9b3c
10:68138921 CTNNA3 A>G	10	68138921	68138921	A	G	CTNNA3	c.1721T>C	NM_013266.4	NP_037398.2:p.(Leu574Pro)	NC_000010.10:g.68138921A>G	VUS	3 labs	e89e23ddfd
22:50899065 SBF1 C>T	22	50899065	50899065	C	T	SBF1	c.3044G>A	NM_002972.4	NP_002963.2:p.(Arg1015Gln)	NC_000022.10:g.50899065C>T	VUS	2 labs	2d588be6f0
12:7080212 EMG1 T>GC	12	7080212	7080212	T	GC	EMG1	c.126_127=	NM_006331.7	NP_006322.4:p.(Arg42_Leu43=)	NC_000012.11:g.7080212delinsGC	(Likely) benign	2 labs	2d5cbcfe1d
16:2153854 PKD1 T>A	16	2153854	2153854	T	A	PKD1	c.8204A>T	NM_001009944.2	NP_001009944.2:p.(Gln2735Leu)	NC_000016.9:g.2153854T>A	(Likely) benign	2 labs	2d66321499
16:15826541 MYH11 C>T	16	15826541	15826541	C	T	MYH11	c.3552G>A	NM_001040113.1	NP_001035202.1:p.(Thr1184=)	NC_000016.9:g.15826541C>T	(Likely) benign	2 labs	2d667e5692
15:89870556 POLG G>A	15	89870556	89870556	G	A	POLG	c.1275C>T	NM_002693.2	NP_002684.1:p.(Ala425=)	NC_000015.9:g.89870556G>A	(Likely) benign	2 labs	2d6fbaf0c1
9:13221487 MPDZ G>A	9	13221487	13221487	G	A	MPDZ	c.760C>T	NM_003829.4	NP_003820.2:p.(His254Tyr)	NC_000009.11:g.13221487G>A	VUS	2 labs	2d72af60dd
X:65824281 EDA2R G>A	X	65824281	65824281	G	A	EDA2R	c.334C>T	NM_001324206.2	NP_001311135.2:p.(Pro112Ser)	NC_000023.10:g.65824281G>A	(Likely) benign	3 labs	2d7d84499e
X:16774804 SYAP1 C>T	X	16774804	16774804	C	T	SYAP1	c.743C>T	NM_032796.3	NP_116185.2:p.(Thr248Met)	NC_000023.10:g.16774804C>T	VUS	2 labs	2d8e1bb4b2
22:29090052 CHEK2 TCGTAAAACGTGC>T	22	29090052	29090065	TCGTAAAACGTGC	T	CHEK2	c.1417_1428del	NM_007194.4	NP_009125.1:p.(Ala473_Thr476del)	NC_000022.10:g.29090054_29090065del	(Likely) pathogenic	2 labs	e8abcd2938
21:47831621 PCNT C>T	21	47831621	47831621	C	T	PCNT	c.5634C>T	NM_006031.5	NP_006022.3:p.(Asp1878=)	NC_000021.8:g.47831621C>T	(Likely) benign	2 labs	2d8a43c045
15:51830641 DMXL2 T>G	15	51830641	51830641	T	G	DMXL2	c.1114A>C	NM_001174116.3	NP_001167587.1:p.(Asn372His)	NC_000015.9:g.51830641T>G	(Likely) benign	2 labs	2d8e9457a5
11:70830059 SHANK2 G>A	11	70830059	70830059	G	A	SHANK2	c.227C>T	NM_012309.4	NP_036441.2:p.(Pro76Leu)	NC_000011.9:g.70830059G>A	VUS	2 labs	2d8f00d83e
16:77325325 ADAMTS18 G>T	16	77325325	77325325	G	T	ADAMTS18	c.3240C>A	NM_199355.4	NP_955387.1:p.(Ser1080Arg)	NC_000016.9:g.77325325G>T	(Likely) benign	2 labs	e8b15a9444
2:179407526 TTN C>T	2	179407526	179407526	C	T	TTN	c.97055G>A	NM_001267550.2	NP_001254479.2:p.(Arg32352His)	NC_000002.11:g.179407526C>T	VUS	2 labs	e8b6fbd0c1
16:30081477 ALDOA G>A	16	30081477	30081477	G	A	ALDOA	c.1201G>A	NM_001243177.1	NP_001230106.1:p.(Gly401Ser)	NC_000016.9:g.30081477G>A	(Likely) benign	2 labs	2da721c7da
15:100794363 ADAMTS17 C>T	15	100794363	100794363	C	T	ADAMTS17	c.1053G>A	NM_139057.4	NP_620688.2:p.(Lys351=)	NC_000015.9:g.100794363C>T	(Likely) benign	2 labs	e8b9a4994a
16:67679932 CARMIL2 G>T	16	67679932	67679932	G	T	CARMIL2	c.198G>T	NM_001013838.2	NP_001013860.1:p.(Thr66=)	NC_000016.9:g.67679932G>T	(Likely) benign	2 labs	2dad2248a3
7:44192032 GCK C>T	7	44192032	44192032	C	T	GCK	c.209-8G>A	NM_001354800.1	NP_001341729.1:p.?	NC_000007.13:g.44192032C>T	(Likely) benign	2 labs	2dae867e42
20:52789538 CYP24A1 C>T	20	52789538	52789538	C	T	CYP24A1	c.359G>A	NM_000782.4	NP_000773.2:p.(Arg120His)	NC_000020.10:g.52789538C>T	VUS	2 labs	2db18a8d45
8:61735193 CHD7 A>G	8	61735193	61735193	A	G	CHD7				NC_000008.10:g.61735193A>G	(Likely) pathogenic	2 labs	2db2d2c215
8:145001227 PLEC G>A	8	145001227	145001227	G	A	PLEC	c.3944C>T	NM_000445.5	NP_000436.2:p.(Thr1315Met)	NC_000008.10:g.145001227G>A	VUS	2 labs	2db427bddf
10:81318748 SFTPA2 C>T	10	81318748	81318748	C	T	SFTPA2	c.216G>A	NM_001320814.1	NP_001307743.1:p.(Pro72=)	NC_000010.10:g.81318748C>T	(Likely) benign	2 labs	2dbc75e902
17:73269530 SLC25A19 A>G	17	73269530	73269530	A	G	SLC25A19	c.*2T>C	NM_001126121.2	NP_001119593.1:p.?	NC_000017.10:g.73269530A>G	(Likely) benign	2 labs	2dc2d86432
16:2154542 PKD1 G>A	16	2154542	2154542	G	A	PKD1	c.8118C>T	NM_001009944.2	NP_001009944.2:p.(Thr2706=)	NC_000016.9:g.2154542G>A	(Likely) benign	2 labs	2dcae6dc5f
5:112175211 APC TAAAAG>T	5	112175211	112175222	TAAAAG	T	APC	c.3927_3931del	NM_000038.6	NP_000029.2:p.(Glu1309AspfsTer4)	NC_000005.9:g.112175218_112175222del	(Likely) pathogenic	4 labs	2dd7b671fa
21:34804517 IFNGR2 T>C	21	34804517	34804517	T	C	IFNGR2	c.595T>C	NM_005534.3	NP_005525.2:p.(Leu199=)	NC_000021.8:g.34804517T>C	(Likely) benign	2 labs	2dd2ed0fb2
13:32972346 BRCA2 TTGTA>T	13	32972346	32972352	TTGTA	T	BRCA2	c.9699_9702del	NM_000059.4	NP_000050.3:p.(Cys3233TrpfsTer15)	NC_000013.10:g.32972349_32972352del	(Likely) pathogenic	2 labs	e8ba75cfc1
3:155546162 SLC33A1 C>G	3	155546162	155546162	C	G	SLC33A1	c.1487G>C	NM_004733.3	NP_004724.1:p.(Cys496Ser)	NC_000003.11:g.155546162C>G	VUS	2 labs	2dd93d6179
13:32911775 BRCA2 C>T	13	32911775	32911775	C	T	BRCA2	c.3283C>T	NM_000059.4	NP_000050.3:p.(Gln1095Ter)	NC_000013.10:g.32911775C>T	(Likely) pathogenic	2 labs	e8bc025966
14:88411937 GALC C>T	14	88411937	88411937	C	T	GALC	c.1630G>A	NM_000153.3	NP_000144.2:p.(Asp544Asn)	NC_000014.8:g.88411937C>T	(Likely) pathogenic	2 labs	2ddf27cda0
16:89337320 ANKRD11 G>T	16	89337320	89337320	G	T	ANKRD11	c.7714-3C>A	NM_001256182.1	NP_001243111.1:p.?	NC_000016.9:g.89337320G>T	(Likely) benign	2 labs	2de8375ba6
12:49435289 KMT2D G>A	12	49435289	49435289	G	A	KMT2D	c.6264C>T	NM_003482.4	NP_003473.3:p.(Thr2088=)	NC_000012.11:g.49435289G>A	(Likely) benign	3 labs	2de0167d9d
7:143036337 CLCN1 C>T	7	143036337	143036337	C	T	CLCN1	c.1402-9C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143036337C>T	(Likely) benign	2 labs	e8bfb1f9ef
19:11325036 DOCK6 T>C	19	11325036	11325036	T	C	DOCK6	c.4253A>G	NM_020812.3	NP_065863.2:p.(Lys1418Arg)	NC_000019.9:g.11325036T>C	(Likely) benign	2 labs	2df3c815f1
3:189585691 TP63 C>T	3	189585691	189585691	C	T	TP63	c.952C>T	NM_003722.5	NP_003713.3:p.(Arg318Cys)	NC_000003.11:g.189585691C>T	(Likely) pathogenic	2 labs	e8c0b83413
5:89914970 ADGRV1 A>G	5	89914970	89914970	A	G	ADGRV1	c.425A>G	NM_032119.4	NP_115495.3:p.(Asn142Ser)	NC_000005.9:g.89914970A>G	VUS	2 labs	2e03040392
7:87049384 ABCB4 G>A	7	87049384	87049384	G	A	ABCB4	c.2324C>T	NM_000443.4	NP_000434.1:p.(Thr775Met)	NC_000007.13:g.87049384G>A	VUS	2 labs	2e0694b527
4:106158350 TET2 A>C	4	106158350	106158350	A	C	TET2	c.3251A>C	NM_001127208.2	NP_001120680.1:p.(Gln1084Pro)	NC_000004.11:g.106158350A>C	(Likely) benign	2 labs	2e08ab2877
2:232146762 ARMC9 C>T	2	232146762	232146762	C	T	ARMC9	c.1552-10C>T	NM_001271466.3	NP_001258395.1:p.?	NC_000002.11:g.232146762C>T	(Likely) benign	2 labs	2e13b4da6f
13:110850996 COL4A1 C>T	13	110850996	110850996	C	T	COL4A1	c.1121-18G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110850996C>T	(Likely) benign	3 labs	2e16c05001
8:100654335 VPS13B G>A	8	100654335	100654335	G	A	VPS13B	c.5592G>A	NM_017890.5	NP_060360.3:p.(Gln1864=)	NC_000008.10:g.100654335G>A	(Likely) benign	2 labs	2e16c0e9f7
19:42776216 CIC A>G	19	42776216	42776216	A	G	CIC	c.281A>G	NM_001304815.1	NP_001291744.1:p.(Lys94Arg)	NC_000019.9:g.42776216A>G	(Likely) benign	2 labs	2e1d6e4fb8
X:53436366 SMC1A G>A	X	53436366	53436366	G	A	SMC1A	c.1323C>T	NM_006306.4	NP_006297.2:p.(Tyr441=)	NC_000023.10:g.53436366G>A	(Likely) benign	2 labs	e8c8519016
3:142238636 ATR C>T	3	142238636	142238636	C	T	ATR	c.4267-10G>A	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142238636C>T	(Likely) benign	2 labs	2e2690cb8c
X:148577907 IDS C>G	X	148577907	148577907	C	G	IDS	c.849G>C	NM_000202.7	NP_000193.1:p.(Val283=)	NC_000023.10:g.148577907C>G	(Likely) benign	2 labs	2e27c504ae
1:158584103 SPTA1 G>GAA	1	158584103	158584115	G	GAA	SPTA1	c.6789-9_6789-8dup	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158584114_158584115dup	(Likely) benign	2 labs	e8cb4363c8
14:29236974 FOXG1 C>T	14	29236974	29236974	C	T	FOXG1	c.489C>T	NM_005249.5	NP_005240.3:p.(Gly163=)	NC_000014.8:g.29236974C>T	(Likely) benign	3 labs	2e2b140b8c
1:169510524 F5 A>G	1	169510524	169510524	A	G	F5	c.3804T>C	NM_000130.5	NP_000121.2:p.(Ser1268=)	NC_000001.10:g.169510524A>G	(Likely) benign	2 labs	e8cbb3ed55
6:43738507 VEGFA C>T	6	43738507	43738507	C	T	VEGFA	c.64C>T	NM_001025366.2	NP_001020537.2:p.(Arg22Trp)	NC_000006.11:g.43738507C>T	VUS	2 labs	2e2e04f3c1
17:29661945 NF1 C>T	17	29661945	29661945	C	T	NF1	c.5839C>T	NM_000267.3	NP_000258.1:p.(Arg1947Ter)	NC_000017.10:g.29661945C>T	(Likely) pathogenic	2 labs	2e34055015
5:138661340 MATR3 A>G	5	138661340	138661340	A	G	MATR3	c.2360A>G	NM_199189.2	NP_954659.1:p.(Asn787Ser)	NC_000005.9:g.138661340A>G	(Likely) benign	2 labs	2e34c2baf7
2:179448520 TTN A>C	2	179448520	179448520	A	C	TTN	c.65389T>G	NM_001267550.2	NP_001254479.2:p.(Cys21797Gly)	NC_000002.11:g.179448520A>C	VUS	6 labs	e8d2f12efc
22:19865651 TXNRD2 G>T	22	19865651	19865651	G	T	TXNRD2	c.1407C>A	NM_006440.3	NP_006431.2:p.(Asn469Lys)	NC_000022.10:g.19865651G>T	(Likely) benign	2 labs	2e382be365
15:74473250 STRA6 C>A	15	74473250	74473250	C	A	STRA6	c.1830G>T	NM_001199042.1	NP_001185971.1:p.(Lys610Asn)	NC_000015.9:g.74473250C>A	VUS	2 labs	2e3985cc2f
18:42530232 SETBP1 C>T	18	42530232	42530232	C	T	SETBP1	c.927C>T	NM_015559.3	NP_056374.2:p.(Asn309=)	NC_000018.9:g.42530232C>T	(Likely) benign	2 labs	2e3abfc78d
4:120079290 MYOZ2 A>G	4	120079290	120079290	A	G	MYOZ2	c.360A>G	NM_016599.5	NP_057683.1:p.(Pro120=)	NC_000004.11:g.120079290A>G	(Likely) benign	2 labs	2e36b0c163
4:1803251 FGFR3 T>C	4	1803251	1803251	T	C	FGFR3	c.603T>C	NM_001163213.2	NP_001156685.1:p.(Ile201=)	NC_000004.11:g.1803251T>C	(Likely) benign	3 labs	2e3eec8bfe
13:110862527 COL4A1 G>A	13	110862527	110862527	G	A	COL4A1	c.501C>T	NM_001845.5	NP_001836.3:p.(Pro167=)	NC_000013.10:g.110862527G>A	(Likely) benign	2 labs	2e3eeecae9
1:226125260 LEFTY2 C>T	1	226125260	226125260	C	T	LEFTY2	c.982G>A	NM_003240.4	NP_003231.2:p.(Val328Ile)	NC_000001.10:g.226125260C>T	(Likely) benign	3 labs	2e40f6b4b3
1:22181251 HSPG2 A>G	1	22181251	22181251	A	G	HSPG2	c.6144T>C	NM_001291860.1	NP_001278789.1:p.(Asp2048=)	NC_000001.10:g.22181251A>G	(Likely) benign	2 labs	2e470437fa
17:78190860 SGSH G>A	17	78190860	78190860	G	A	SGSH	c.220C>T	NM_000199.5	NP_000190.1:p.(Arg74Cys)	NC_000017.10:g.78190860G>A	(Likely) pathogenic	3 labs	2e4a0a8fac
11:6636106 TPP1 T>A	11	6636106	6636106	T	A	TPP1	c.1542A>T	NM_000391.4	NP_000382.3:p.(Gly514=)	NC_000011.9:g.6636106T>A	(Likely) benign	2 labs	2e61fe43d1
1:161519495 FCGR3A A>T	1	161519495	161519495	A	T	FCGR3A	c.347T>A	NM_000569.7	NP_000560.6:p.(Leu116Gln)	NC_000001.10:g.161519495A>T	VUS	2 labs	2e5c2f8a29
16:2158503 PKD1 G>A	16	2158503	2158503	G	A	PKD1	c.6665C>T	NM_001009944.2	NP_001009944.2:p.(Ala2222Val)	NC_000016.9:g.2158503G>A	(Likely) benign	2 labs	2e5ee1c8cd
X:153997446 DKC1 A>C	X	153997446	153997446	A	C	DKC1	c.776A>C	NM_001288747.1	NP_001275676.1:p.(His259Pro)	NC_000023.10:g.153997446A>C	(Likely) benign	2 labs	2e62df7c49
14:23869947 MYH6 G>A	14	23869947	23869947	G	A	MYH6	c.1381C>T	NM_002471.4	NP_002462.2:p.(Leu461=)	NC_000014.8:g.23869947G>A	(Likely) benign	3 labs	2e5f654a66
4:151827478 LRBA A>C	4	151827478	151827478	A	C	LRBA	c.1573T>G	NM_001199282.2	NP_001186211.2:p.(Phe525Val)	NC_000004.11:g.151827478A>C	VUS	2 labs	2e68b14c67
10:112595636 RBM20 C>A	10	112595636	112595636	C	A	RBM20	c.3584C>A	NM_001134363.3	NP_001127835.2:p.(Ser1195Tyr)	NC_000010.10:g.112595636C>A	VUS	2 labs	e8d8896d18
10:78839269 KCNMA1 G>T	10	78839269	78839269	G	T	KCNMA1	c.1563C>A	NM_001014797.2	NP_001014797.1:p.(Ile521=)	NC_000010.10:g.78839269G>T	(Likely) benign	2 labs	2e6c795739
9:126135938 CRB2 C>T	9	126135938	126135938	C	T	CRB2	c.3128C>T	NM_173689.6	NP_775960.4:p.(Ser1043Phe)	NC_000009.11:g.126135938C>T	(Likely) benign	3 labs	2e72ea719a
1:197091537 ASPM A>T	1	197091537	197091537	A	T	ASPM	c.3579T>A	NM_018136.5	NP_060606.3:p.(Ser1193=)	NC_000001.10:g.197091537A>T	(Likely) benign	3 labs	2e743e970b
9:139402663 NOTCH1 T>C	9	139402663	139402663	T	C	NOTCH1	c.3325+21A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139402663T>C	(Likely) benign	2 labs	2e749939f7
14:23873926 MYH6 C>T	14	23873926	23873926	C	T	MYH6	c.636G>A	NM_002471.3	NP_002462.2:p.(Ala212=)	NC_000014.8:g.23873926C>T	(Likely) benign	2 labs	2e7bd3c89b
X:66931475 AR A>G	X	66931475	66931475	A	G	AR	c.2117A>G	NM_000044.4	NP_000035.2:p.(Asn706Ser)	NC_000023.10:g.66931475A>G	(Likely) pathogenic	2 labs	2e7e7628ed
1:216011408 USH2A T>C	1	216011408	216011408	T	C	USH2A	c.9296A>G	NM_206933.2	NP_996816.2:p.(Asn3099Ser)	NC_000001.10:g.216011408T>C	(Likely) benign	2 labs	2e826a9590
19:11227604 LDLR G>A	19	11227604	11227604	G	A	LDLR	c.1775G>A	NM_000527.5	NP_000518.1:p.(Gly592Glu)	NC_000019.9:g.11227604G>A	(Likely) pathogenic	3 labs	e8d9243df7
5:122426110 PRDM6 C>T	5	122426110	122426110	C	T	PRDM6	c.401C>T	NM_001136239.3	NP_001129711.1:p.(Pro134Leu)	NC_000005.9:g.122426110C>T	(Likely) benign	2 labs	2e88567382
11:66473240 SPTBN2 C>T	11	66473240	66473240	C	T	SPTBN2	c.1722G>A	NM_006946.3	NP_008877.1:p.(Glu574=)	NC_000011.9:g.66473240C>T	(Likely) benign	2 labs	2e897a3570
4:94411809 GRID2 G>A	4	94411809	94411809	G	A	GRID2	c.1878G>A	NM_001510.3	NP_001501.2:p.(Thr626=)	NC_000004.11:g.94411809G>A	(Likely) benign	2 labs	2e901372d5
11:108235935 ATM C>T	11	108235935	108235935	C	T	ATM	c.8977C>T	NM_000051.4	NP_000042.3:p.(Arg2993Ter)	NC_000011.9:g.108235935C>T	(Likely) pathogenic	2 labs	e8df257906
7:42011984 GLI3 C>CT	7	42011984	42011987	C	CT	GLI3	c.2054dup	NM_000168.5	NP_000159.3:p.(Arg686AlafsTer52)	NC_000007.13:g.42011987dup	(Likely) pathogenic	2 labs	2e99355a2c
3:8787265 CAV3 C>T	3	8787265	8787265	C	T	CAV3	c.168C>T	NM_033337.2	NP_203123.1:p.(Gly56=)	NC_000003.11:g.8787265C>T	(Likely) benign	2 labs	2e99f03dfa
19:11097686 SMARCA4 T>A	19	11097686	11097686	T	A	SMARCA4	c.859+7T>A	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11097686T>A	(Likely) benign	3 labs	2e92a3e7f2
2:179544321 TTN T>C	2	179544321	179544321	T	C	TTN	c.33664+5A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544321T>C	(Likely) benign	3 labs	2e9c4600c9
1:242023882 EXO1 G>A	1	242023882	242023882	G	A	EXO1	c.820G>A	NM_130398.3	NP_569082.2:p.(Gly274Arg)	NC_000001.10:g.242023882G>A	VUS	2 labs	2e9c4d4372
14:23243191 SLC7A7 G>C	14	23243191	23243191	G	C	SLC7A7	c.1380C>G	NM_001126106.2	NP_001119578.1:p.(Ile460Met)	NC_000014.8:g.23243191G>C	(Likely) benign	2 labs	2e9c729881
17:48263690 COL1A1 G>A	17	48263690	48263690	G	A	COL1A1	c.3993C>T	NM_000088.4	NP_000079.2:p.(Thr1331=)	NC_000017.10:g.48263690G>A	(Likely) benign	2 labs	2eaa8f8569
7:117227792 CFTR G>A	7	117227792	117227792	G	A	CFTR	c.1585-1G>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117227792G>A	(Likely) pathogenic	3 labs	2eb1682036
16:28495346 CLN3 C>T	16	28495346	28495346	C	T	CLN3	c.771G>A	NM_001042432.2	NP_001035897.1:p.(Glu257=)	NC_000016.9:g.28495346C>T	(Likely) benign	3 labs	2eadfc915e
8:11615875 GATA4 C>G	8	11615875	11615875	C	G	GATA4	c.1220C>G	NM_002052.4	NP_002043.2:p.(Pro407Arg)	NC_000008.10:g.11615875C>G	VUS	2 labs	2eb606c79d
11:65978601 PACS1 G>A	11	65978601	65978601	G	A	PACS1	c.535-4G>A	NM_018026.3	NP_060496.2:p.?	NC_000011.9:g.65978601G>A	(Likely) benign	2 labs	2eb6376433
20:62324506 RTEL1 G>C	20	62324506	62324506	G	C	RTEL1	c.2862G>C	NM_001283009.1	NP_001269938.1:p.(Gln954His)	NC_000020.10:g.62324506G>C	VUS	2 labs	2eb809b9be
11:78412732 TENM4 C>T	11	78412732	78412732	C	T	TENM4	c.4926G>A	NM_001098816.3	NP_001092286.2:p.(Leu1642=)	NC_000011.9:g.78412732C>T	(Likely) benign	2 labs	2eb5bf7798
3:30713874 TGFBR2 T>A	3	30713874	30713874	T	A	TGFBR2	c.1274T>A	NM_001024847.2	NP_001020018.1:p.(Leu425His)	NC_000003.11:g.30713874T>A	VUS	2 labs	2ebbe22a96
2:152425820 NEB C>T	2	152425820	152425820	C	T	NEB	c.17497G>A	NM_001271208.1	NP_001258137.1:p.(Val5833Ile)	NC_000002.11:g.152425820C>T	(Likely) benign	2 labs	2ec0d2ef86
19:11305178 KANK2 C>T	19	11305178	11305178	C	T	KANK2	c.10G>A	NM_001136191.3	NP_001129663.1:p.(Val4Ile)	NC_000019.9:g.11305178C>T	(Likely) benign	2 labs	e8f192a3f3
10:90701066 ACTA2 C>T	10	90701066	90701066	C	T	ACTA2	c.536G>A	NM_001141945.2	NP_001135417.1:p.(Arg179His)	NC_000010.10:g.90701066C>T	(Likely) pathogenic	2 labs	2ec646ebb8
6:110106234 FIG4 A>G	6	110106234	110106234	A	G	FIG4	c.1948+3A>G	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110106234A>G	(Likely) benign	4 labs	2ece0a86e6
11:17408796 KCNJ11 G>A	11	17408796	17408796	G	A	KCNJ11	c.843C>T	NM_000525.4	NP_000516.3:p.(Leu281=)	NC_000011.9:g.17408796G>A	(Likely) benign	2 labs	e8fc42c19c
4:996501 IDUA G>GC	4	996501	996510	G	GC	IDUA	c.1190-10dup	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996510dup	(Likely) benign	3 labs	2edbfa1581
9:138683940 KCNT1 G>A	9	138683940	138683940	G	A	KCNT1	c.3641G>A	NM_020822.3	NP_065873.2:p.(Arg1214Gln)	NC_000009.11:g.138683940G>A	(Likely) benign	3 labs	e90370a395
19:2251829 AMH C>T	19	2251829	2251829	C	T	AMH	c.1556C>T	NM_000479.4	NP_000470.2:p.(Ala519Val)	NC_000019.9:g.2251829C>T	(Likely) benign	2 labs	2ee6ed6dea
6:70407465 LMBRD1 A>T	6	70407465	70407465	A	T	LMBRD1	c.1407T>A	NM_018368.4	NP_060838.3:p.(Asp469Glu)	NC_000006.11:g.70407465A>T	(Likely) benign	2 labs	e9043712df
X:49047959 SYP C>T	X	49047959	49047959	C	T	SYP	c.877G>A	NM_003179.3	NP_003170.1:p.(Gly293Ser)	NC_000023.10:g.49047959C>T	(Likely) benign	4 labs	2ee501a83c
7:83119558 SEMA3E G>A	7	83119558	83119558	G	A	SEMA3E	c.148C>T	NM_012431.3	NP_036563.1:p.(His50Tyr)	NC_000007.13:g.83119558G>A	VUS	2 labs	2ef12dc901
7:87060714 ABCB4 A>G	7	87060714	87060714	A	G	ABCB4	c.1893+6T>C	NM_018849.2	NP_061337.1:p.?	NC_000007.13:g.87060714A>G	(Likely) benign	2 labs	2eed103065
19:12954416 MAST1 G>A	19	12954416	12954416	G	A	MAST1	c.322G>A	NM_014975.3	NP_055790.1:p.(Val108Ile)	NC_000019.9:g.12954416G>A	(Likely) benign	2 labs	e9076200af
11:121437819 SORL1 C>G	11	121437819	121437819	C	G	SORL1	c.3220C>G	NM_003105.6	NP_003096.2:p.(Gln1074Glu)	NC_000011.9:g.121437819C>G	(Likely) benign	2 labs	2efaea58d0
1:197062394 ASPM A>G	1	197062394	197062394	A	G	ASPM	c.9085-3T>C	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197062394A>G	(Likely) benign	2 labs	2f02626c1e
19:7509332 ARHGEF18 G>A	19	7509332	7509332	G	A	ARHGEF18	c.1603G>A	NM_001367823.1	NP_001354752.1:p.(Val535Ile)	NC_000019.9:g.7509332G>A	VUS	2 labs	2f03439b2f
2:166246226 SCN2A G>A	2	166246226	166246226	G	A	SCN2A	c.5910G>A	NM_021007.2	NP_066287.2:p.(Thr1970=)	NC_000002.11:g.166246226G>A	(Likely) benign	2 labs	2f121f190f
7:11022455 PHF14 C>G	7	11022455	11022455	C	G	PHF14	c.569C>G	NM_014660.3	NP_055475.2:p.(Pro190Arg)	NC_000007.13:g.11022455C>G	VUS	2 labs	2f14a1eaa2
13:32911295 BRCA2 G>A	13	32911295	32911295	G	A	BRCA2	c.2803G>A	NM_000059.4	NP_000050.3:p.(Asp935Asn)	NC_000013.10:g.32911295G>A	(Likely) benign	7 labs	e914227891
11:47368195 MYBPC3 G>A	11	47368195	47368195	G	A	MYBPC3	c.909C>T	NM_000256.3	NP_000247.2:p.(Asp303=)	NC_000011.9:g.47368195G>A	(Likely) benign	2 labs	2f1dd75ded
16:2161643 PKD1 C>T	16	2161643	2161643	C	T	PKD1	c.3525G>A	NM_001009944.2	NP_001009944.2:p.(Pro1175=)	NC_000016.9:g.2161643C>T	(Likely) benign	2 labs	2f25402543
X:153219782 HCFC1 G>A	X	153219782	153219782	G	A	HCFC1	c.4068C>T	NM_005334.2	NP_005325.2:p.(Pro1356=)	NC_000023.10:g.153219782G>A	(Likely) benign	2 labs	2f2a8d7ad0
7:21775443 DNAH11 G>A	7	21775443	21775443	G	A	DNAH11	c.7626G>A	NM_001277115.2	NP_001264044.1:p.(Thr2542=)	NC_000007.13:g.21775443G>A	(Likely) benign	2 labs	e92732cf8f
5:140073084 HARS2 G>A	5	140073084	140073084	G	A	HARS2	c.109-92G>A	NM_012208.3	NP_036340.1:p.?	NC_000005.9:g.140073084G>A	(Likely) benign	2 labs	2f3a12a80b
18:21119839 NPC1 C>T	18	21119839	21119839	C	T	NPC1	c.2731G>A	NM_000271.5	NP_000262.2:p.(Gly911Ser)	NC_000018.9:g.21119839C>T	(Likely) benign	3 labs	2f3d93da4b
16:24564879 RBBP6 GTA>G	16	24564879	24564896	GTA	G	RBBP6	c.348+17_348+18del	NM_006910.5	NP_008841.2:p.?	NC_000016.9:g.24564895_24564896del	(Likely) benign	2 labs	2f3e807a48
16:15851747 MYH11 G>A	16	15851747	15851747	G	A	MYH11	c.1533C>T	NM_001040113.1	NP_001035202.1:p.(Ile511=)	NC_000016.9:g.15851747G>A	(Likely) benign	2 labs	2f42819b36
1:103444283 COL11A1 G>A	1	103444283	103444283	G	A	COL11A1	c.2771C>T	NM_080629.2	NP_542196.2:p.(Pro924Leu)	NC_000001.10:g.103444283G>A	VUS	3 labs	2f511b683e
1:11301651 MTOR A>G	1	11301651	11301651	A	G	MTOR	c.1500T>C	NM_004958.3	NP_004949.1:p.(Asp500=)	NC_000001.10:g.11301651A>G	(Likely) benign	2 labs	2f53e280d5
X:24844604 POLA1 G>C	X	24844604	24844604	G	C	POLA1	c.3604G>C	NM_016937.4	NP_058633.2:p.(Asp1202His)	NC_000023.10:g.24844604G>C	(Likely) benign	4 labs	2f60b79c83
16:79245645 WWOX G>A	16	79245645	79245645	G	A	WWOX	c.1197G>A	NM_016373.3	NP_057457.1:p.(Ala399=)	NC_000016.9:g.79245645G>A	(Likely) benign	2 labs	2f5b25ef17
1:27875384 AHDC1 TGCAGAGGTG>T	1	27875384	27875400	TGCAGAGGTG	T	AHDC1	c.3234_3242del	NM_001029882.3	NP_001025053.1:p.(Thr1079_Ala1081del)	NC_000001.10:g.27875392_27875400del	VUS	2 labs	2f6aac4ed7
1:237711848 RYR2 G>A	1	237711848	237711848	G	A	RYR2	c.3024G>A	NM_001035.3	NP_001026.2:p.(Ala1008=)	NC_000001.10:g.237711848G>A	(Likely) benign	4 labs	e932f127ef
14:23893327 MYH7 C>T	14	23893327	23893327	C	T	MYH7	c.2711G>A	NM_000257.4	NP_000248.2:p.(Arg904His)	NC_000014.8:g.23893327C>T	(Likely) pathogenic	3 labs	e935c7268e
X:48542803 WAS C>T	X	48542803	48542803	C	T	WAS	c.264C>T	NM_000377.2	NP_000368.1:p.(Tyr88=)	NC_000023.10:g.48542803C>T	(Likely) benign	2 labs	2f86a3aa4f
8:117879001 RAD21 C>T	8	117879001	117879001	C	T	RAD21	c.-32-1G>A	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117879001C>T	(Likely) benign	4 labs	e93ce2a9f3
3:49170064 LAMB2 G>C	3	49170064	49170064	G	C	LAMB2	c.109C>G	NM_002292.3	NP_002283.3:p.(Pro37Ala)	NC_000003.11:g.49170064G>C	(Likely) benign	3 labs	2f8b40a7a6
6:133802665 EYA4 G>C	6	133802665	133802665	G	C	EYA4	c.1035G>C	NM_004100.4	NP_004091.3:p.(Arg345Ser)	NC_000006.11:g.133802665G>C	(Likely) benign	3 labs	2f8dfacee8
X:48460232 WDR13 G>T	X	48460232	48460232	G	T	WDR13	c.616G>T	NM_001166426.2	NP_001159898.1:p.(Gly206Trp)	NC_000023.10:g.48460232G>T	VUS	2 labs	2f948855aa
4:1807371 FGFR3 C>A	4	1807371	1807371	C	A	FGFR3	c.1620C>A	NM_000142.4	NP_000133.1:p.(Asn540Lys)	NC_000004.11:g.1807371C>A	(Likely) pathogenic	3 labs	2fa2a3073f
4:119229739 PRSS12 C>T	4	119229739	119229739	C	T	PRSS12	c.1490-7G>A	NM_003619.3	NP_003610.2:p.?	NC_000004.11:g.119229739C>T	(Likely) benign	2 labs	2fa457c7fa
4:6292909 WFS1 C>T	4	6292909	6292909	C	T	WFS1	c.461-15C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6292909C>T	(Likely) benign	3 labs	2fa7c9b6dd
X:73524233 ZCCHC13 T>C	X	73524233	73524233	T	C	ZCCHC13	c.132T>C	NM_203303.3	NP_976048.1:p.(Ser44=)	NC_000023.10:g.73524233T>C	(Likely) benign	3 labs	2fb11e86d5
18:7007187 LAMA1 C>A	18	7007187	7007187	C	A	LAMA1	c.4211G>T	NM_005559.4	NP_005550.2:p.(Ser1404Ile)	NC_000018.9:g.7007187C>A	(Likely) benign	2 labs	2fb88d88a7
22:21073090 PI4KA C>G	22	21073090	21073090	C	G	PI4KA	c.5137G>C	NM_058004.3	NP_477352.3:p.(Asp1713His)	NC_000022.10:g.21073090C>G	VUS	2 labs	2fb9f5b16b
17:78182048 CARD14 C>G	17	78182048	78182048	C	G	CARD14	c.2919C>G	NM_024110.4	NP_077015.2:p.(Asp973Glu)	NC_000017.10:g.78182048C>G	(Likely) benign	3 labs	2fbae76be2
16:2114407 TSC2 C>T	16	2114407	2114407	C	T	TSC2	c.1578C>T	NM_000548.3	NP_000539.2:p.(Ser526=)	NC_000016.9:g.2114407C>T	(Likely) benign	2 labs	2fbb954381
1:45392402 EIF2B3 C>T	1	45392402	45392402	C	T	EIF2B3	c.464G>A	NM_020365.4	NP_065098.1:p.(Arg155His)	NC_000001.10:g.45392402C>T	VUS	2 labs	2fc1bad8f2
1:154164377 TPM3 C>T	1	154164377	154164377	C	T	TPM3	c.117+1G>A	NM_152263.2	NP_689476.2:p.?	NC_000001.10:g.154164377C>T	VUS	2 labs	2fd0e20c70
14:94849201 SERPINA1 C>T	14	94849201	94849201	C	T	SERPINA1	c.374G>A	NM_001127701.2	NP_001121173.1:p.(Arg125His)	NC_000014.8:g.94849201C>T	(Likely) benign	2 labs	2fdb3bbad8
2:141299369 LRP1B C>T	2	141299369	141299369	C	T	LRP1B	c.7366G>A	NM_018557.2	NP_061027.2:p.(Val2456Ile)	NC_000002.11:g.141299369C>T	VUS	2 labs	2fd8684b9e
X:129201189 ELF4 G>A	X	129201189	129201189	G	A	ELF4	c.1499C>T	NM_001421.3	NP_001412.1:p.(Ala500Val)	NC_000023.10:g.129201189G>A	(Likely) benign	2 labs	2fdf217114
7:151962168 KMT2C C>A	7	151962168	151962168	C	A	KMT2C	c.1139G>T	NM_170606.2	NP_733751.2:p.(Arg380Leu)	NC_000007.13:g.151962168C>A	(Likely) benign	2 labs	2fe336756b
12:122064783 ORAI1 CCACCG>T	12	122064783	122064788	CCACCG	T	ORAI1	c.135_136insT	NM_032790.3	NP_116179.2:p.(Pro46SerfsTer42)	NC_000012.11:g.122064783_122064788delinsT	(Likely) benign	2 labs	2feb731c80
16:2108887 TSC2 C>T	16	2108887	2108887	C	T	TSC2	c.975+13C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2108887C>T	(Likely) benign	2 labs	2ff536a0a9
10:75849766 VCL C>T	10	75849766	75849766	C	T	VCL	c.1177-15C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75849766C>T	(Likely) benign	4 labs	2ffc916bc1
12:2795019 CACNA1C C>T	12	2795019	2795019	C	T	CACNA1C	c.5680+11C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2795019C>T	(Likely) benign	4 labs	e948adb012
5:172659794 NKX2-5 G>C	5	172659794	172659794	G	C	NKX2-5	c.753C>G	NM_004387.4	NP_004378.1:p.(Asn251Lys)	NC_000005.9:g.172659794G>C	VUS	4 labs	e94d127e2e
1:103412411 COL11A1 A>T	1	103412411	103412411	A	T	COL11A1	c.3306T>A	NM_080629.2	NP_542196.2:p.(Gly1102=)	NC_000001.10:g.103412411A>T	(Likely) benign	2 labs	2ffc1a34d4
1:216017635 USH2A C>T	1	216017635	216017635	C	T	USH2A	c.9258+1G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216017635C>T	(Likely) pathogenic	2 labs	2ff4dbd844
4:178355580 AGA G>A	4	178355580	178355580	G	A	AGA	c.762C>T	NM_000027.3	NP_000018.2:p.(Ala254=)	NC_000004.11:g.178355580G>A	(Likely) benign	2 labs	3011fd6f78
16:53639438 RPGRIP1L C>T	16	53639438	53639438	C	T	RPGRIP1L	c.3790G>A	NM_015272.4	NP_056087.2:p.(Asp1264Asn)	NC_000016.9:g.53639438C>T	(Likely) benign	2 labs	30151375bb
17:8138607 CTC1 G>A	17	8138607	8138607	G	A	CTC1	c.1207-4C>T	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8138607G>A	(Likely) benign	2 labs	3015b5efa3
5:90016778 ADGRV1 C>T	5	90016778	90016778	C	T	ADGRV1	c.9650C>T	NM_032119.4	NP_115495.3:p.(Ala3217Val)	NC_000005.9:g.90016778C>T	(Likely) benign	2 labs	3032c298c9
18:21148805 NPC1 C>T	18	21148805	21148805	C	T	NPC1	c.445G>A	NM_000271.4	NP_000262.2:p.(Gly149Arg)	NC_000018.9:g.21148805C>T	VUS	2 labs	303673665d
2:179422181 TTN C>T	2	179422181	179422181	C	T	TTN	c.87808G>A	NM_001267550.2	NP_001254479.2:p.(Val29270Ile)	NC_000002.11:g.179422181C>T	(Likely) benign	6 labs	304e17806d
1:100356846 AGL A>G	1	100356846	100356846	A	G	AGL	c.2883A>G	NM_000028.2	NP_000019.2:p.(Arg961=)	NC_000001.10:g.100356846A>G	(Likely) benign	3 labs	304627b6da
6:152631566 SYNE1 G>A	6	152631566	152631566	G	A	SYNE1	c.16771C>T	NM_033071.4	NP_149062.2:p.(Arg5591Cys)	NC_000006.11:g.152631566G>A	VUS	3 labs	304f5f5f7f
X:70339715 MED12 A>G	X	70339715	70339715	A	G	MED12	c.384A>G	NM_005120.2	NP_005111.2:p.(Gln128=)	NC_000023.10:g.70339715A>G	(Likely) benign	2 labs	3050a4ccf5
8:38275808 FGFR1 C>A	8	38275808	38275808	C	A	FGFR1	c.1338G>T	NM_001174064.2	NP_001167535.1:p.(Met446Ile)	NC_000008.10:g.38275808C>A	(Likely) benign	6 labs	e961e294a8
X:153589777 FLNA G>A	X	153589777	153589777	G	A	FLNA	c.3106C>T	NM_001110556.2	NP_001104026.1:p.(Arg1036Cys)	NC_000023.10:g.153589777G>A	VUS	2 labs	305f1cd20a
13:32929251 BRCA2 C>T	13	32929251	32929251	C	T	BRCA2	c.7261C>T	NM_000059.4	NP_000050.3:p.(Gln2421Ter)	NC_000013.10:g.32929251C>T	(Likely) pathogenic	2 labs	30673de983
10:89690790 PTEN ACTTTT>A	10	89690790	89690800	ACTTTT	A	PTEN	c.210-7_210-3del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690796_89690800del	(Likely) benign	3 labs	306a317030
19:30199252 C19orf12 C>T	19	30199252	30199252	C	T	C19orf12	c.69G>A	NM_031448.6	NP_113636.2:p.(Ala23=)	NC_000019.9:g.30199252C>T	(Likely) benign	3 labs	e9625991c6
2:179592567 TTN G>A	2	179592567	179592567	G	A	TTN	c.19738C>T	NM_001267550.2	NP_001254479.2:p.(Pro6580Ser)	NC_000002.11:g.179592567G>A	(Likely) benign	3 labs	3064cd4c56
5:131911535 RAD50 A>C	5	131911535	131911535	A	C	RAD50	c.280A>C	NM_005732.4	NP_005723.2:p.(Ile94Leu)	NC_000005.9:g.131911535A>C	(Likely) benign	2 labs	306d065bc4
6:146755324 GRM1 T>C	6	146755324	146755324	T	C	GRM1	c.2977T>C	NM_001278064.2	NP_001264993.1:p.(Ser993Pro)	NC_000006.11:g.146755324T>C	(Likely) benign	2 labs	3071f9eaf7
1:197091286 ASPM T>C	1	197091286	197091286	T	C	ASPM	c.3741+3A>G	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197091286T>C	(Likely) benign	2 labs	307597262e
8:133187799 KCNQ3 A>G	8	133187799	133187799	A	G	KCNQ3	c.834T>C	NM_004519.4	NP_004510.1:p.(Leu278=)	NC_000008.10:g.133187799A>G	(Likely) benign	3 labs	307ae2a538
5:13781044 DNAH5 G>C	5	13781044	13781044	G	C	DNAH5	c.8845C>G	NM_001369.3	NP_001360.1:p.(Gln2949Glu)	NC_000005.9:g.13781044G>C	VUS	2 labs	3084deec4d
15:90191839 KIF7 G>A	15	90191839	90191839	G	A	KIF7	c.1090C>T	NM_198525.2	NP_940927.2:p.(Pro364Ser)	NC_000015.9:g.90191839G>A	VUS	2 labs	30889753bf
15:31220850 FAN1 C>T	15	31220850	31220850	C	T	FAN1	c.2583C>T	NM_014967.4	NP_055782.3:p.(Asn861=)	NC_000015.9:g.31220850C>T	(Likely) benign	2 labs	30916515db
1:43396536 SLC2A1 G>A	1	43396536	43396536	G	A	SLC2A1	c.277C>T	NM_006516.4	NP_006507.2:p.(Arg93Trp)	NC_000001.10:g.43396536G>A	(Likely) pathogenic	2 labs	e96fae259f
17:48646346 CACNA1G AGTGT>A	17	48646346	48646376	AGTGT	A	CACNA1G	c.354+31_354+34del	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646373_48646376del	(Likely) benign	2 labs	e96fd96f26
19:42474557 ATP1A3 C>T	19	42474557	42474557	C	T	ATP1A3	c.2401G>A	NM_152296.5	NP_689509.1:p.(Asp801Asn)	NC_000019.9:g.42474557C>T	(Likely) pathogenic	2 labs	30abf98f46
1:150529657 ADAMTSL4 G>A	1	150529657	150529657	G	A	ADAMTSL4	c.1893G>A	NM_019032.6	NP_061905.2:p.(Pro631=)	NC_000001.10:g.150529657G>A	(Likely) benign	2 labs	309e8d89fa
3:10191507 VHL G>A	3	10191507	10191507	G	A	VHL	c.500G>A	NM_000551.3	NP_000542.1:p.(Arg167Gln)	NC_000003.11:g.10191507G>A	(Likely) pathogenic	3 labs	30b4f4526d
13:20763394 GJB2 CCCCTTGATGAACTT>C	13	20763394	20763410	CCCCTTGATGAACTT	C	GJB2	c.313_326del	NM_004004.6	NP_003995.2:p.(Lys105GlyfsTer5)	NC_000013.10:g.20763397_20763410del	(Likely) pathogenic	2 labs	30c2e4faf9
8:94808165 TMEM67 A>G	8	94808165	94808165	A	G	TMEM67	c.1810A>G	NM_153704.6	NP_714915.3:p.(Ile604Val)	NC_000008.10:g.94808165A>G	(Likely) benign	3 labs	e976ce8d5a
19:50370404 PNKP G>A	19	50370404	50370404	G	A	PNKP	c.58C>T	NM_007254.3	NP_009185.2:p.(Pro20Ser)	NC_000019.9:g.50370404G>A	(Likely) benign	2 labs	30ccce0699
6:157100094 ARID1B C>T	6	157100094	157100094	C	T	ARID1B	c.1031C>T	NM_020732.3	NP_065783.3:p.(Ala344Val)	NC_000006.11:g.157100094C>T	(Likely) benign	2 labs	30d3c97d94
9:131395569 SPTAN1 G>A	9	131395569	131395569	G	A	SPTAN1	c.7390G>A	NM_001130438.3	NP_001123910.1:p.(Ala2464Thr)	NC_000009.11:g.131395569G>A	VUS	2 labs	30d510186c
16:57691265 ADGRG1 C>A	16	57691265	57691265	C	A	ADGRG1	c.1168-20C>A	NM_001145774.3	NP_001139246.1:p.?	NC_000016.9:g.57691265C>A	(Likely) benign	2 labs	30ded40652
2:179440111 TTN G>T	2	179440111	179440111	G	T	TTN	c.70748C>A	NM_001267550.2	NP_001254479.2:p.(Thr23583Lys)	NC_000002.11:g.179440111G>T	VUS	4 labs	30e68287e8
6:137524656 IFNGR1 A>G	6	137524656	137524656	A	G	IFNGR1	c.713T>C	NM_000416.2	NP_000407.1:p.(Ile238Thr)	NC_000006.11:g.137524656A>G	(Likely) benign	2 labs	30e44caa79
8:70514019 SULF1 G>A	8	70514019	70514019	G	A	SULF1	c.1016G>A	NM_015170.2	NP_055985.2:p.(Arg339His)	NC_000008.10:g.70514019G>A	VUS	2 labs	30f935c1e5
1:120479908 NOTCH2 G>A	1	120479908	120479908	G	A	NOTCH2	c.3519C>T	NM_024408.3	NP_077719.2:p.(Cys1173=)	NC_000001.10:g.120479908G>A	(Likely) benign	3 labs	30fadd1c0b
19:42866754 MEGF8 G>T	19	42866754	42866754	G	T	MEGF8	c.6058+5G>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42866754G>T	(Likely) benign	2 labs	3107931853
8:10468353 RP1L1 G>C	8	10468353	10468353	G	C	RP1L1	c.3255C>G	NM_178857.6	NP_849188.4:p.(Ile1085Met)	NC_000008.10:g.10468353G>C	(Likely) benign	3 labs	3110adbe19
14:23243154 SLC7A7 G>A	14	23243154	23243154	G	A	SLC7A7	c.1417C>T	NM_001126106.2	NP_001119578.1:p.(Arg473Ter)	NC_000014.8:g.23243154G>A	(Likely) pathogenic	3 labs	3112a1332a
1:22207140 HSPG2 G>A	1	22207140	22207140	G	A	HSPG2	c.2001+9C>T	NM_001291860.1	NP_001278789.1:p.?	NC_000001.10:g.22207140G>A	(Likely) benign	2 labs	31180d314d
X:63410516 AMER1 G>A	X	63410516	63410516	G	A	AMER1	c.2651C>T	NM_152424.4	NP_689637.3:p.(Pro884Leu)	NC_000023.10:g.63410516G>A	(Likely) benign	4 labs	e98262a4b0
16:2144014 PKD1 C>G	16	2144014	2144014	C	G	PKD1	c.10619G>C	NM_001009944.2	NP_001009944.2:p.(Gly3540Ala)	NC_000016.9:g.2144014C>G	VUS	2 labs	3122b15ceb
17:29654862 NF1 G>A	17	29654862	29654862	G	A	NF1	c.5546+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654862G>A	(Likely) pathogenic	2 labs	3124407098
14:88852165 SPATA7 G>A	14	88852165	88852165	G	A	SPATA7	c.3G>A	NM_018418.4	NP_060888.2:p.(Met1?)	NC_000014.8:g.88852165G>A	(Likely) pathogenic	2 labs	3128413e89
1:27120640 PIGV G>A	1	27120640	27120640	G	A	PIGV	c.115G>A	NM_001202554.1	NP_001189483.1:p.(Glu39Lys)	NC_000001.10:g.27120640G>A	VUS	2 labs	3130ae422c
X:66766501 AR C>A	X	66766501	66766501	C	A	AR	c.1513C>A	NM_000044.4	NP_000035.2:p.(Pro505Thr)	NC_000023.10:g.66766501C>A	VUS	2 labs	3139722f8b
13:100925451 PCCA A>AT	13	100925451	100925458	A	AT	PCCA	c.923dup	NM_000282.4	NP_000273.2:p.(Leu308PhefsTer35)	NC_000013.10:g.100925458dup	(Likely) pathogenic	3 labs	313ed8a805
X:7223077 STS T>C	X	7223077	7223077	T	C	STS	c.980-10T>C	NM_001320750.1	NP_001307679.1:p.?	NC_000023.10:g.7223077T>C	(Likely) benign	2 labs	313cbd446a
4:79229320 FRAS1 C>T	4	79229320	79229320	C	T	FRAS1	c.1635C>T	NM_025074.7	NP_079350.5:p.(Ser545=)	NC_000004.11:g.79229320C>T	(Likely) benign	2 labs	3159d2b8d3
1:61872392 NFIA G>A	1	61872392	61872392	G	A	NFIA	c.1548G>A	NM_001145512.1	NP_001138984.1:p.(Thr516=)	NC_000001.10:g.61872392G>A	(Likely) benign	2 labs	315d85e4ad
21:46875961 COL18A1 G>A	21	46875961	46875961	G	A	COL18A1	c.517G>A	NM_130444.3	NP_569711.2:p.(Gly173Ser)	NC_000021.8:g.46875961G>A	(Likely) benign	2 labs	3169455661
11:119216826 MFRP C>T	11	119216826	119216826	C	T	MFRP	c.201G>A	NM_031433.3	NP_113621.1:p.(Trp67Ter)	NC_000011.9:g.119216826C>T	(Likely) pathogenic	2 labs	3175b709cb
20:3870030 PANK2 C>T	20	3870030	3870030	C	T	PANK2	c.283C>T	NM_153638.2	NP_705902.2:p.(Leu95Phe)	NC_000020.10:g.3870030C>T	(Likely) benign	2 labs	31792f06a9
11:71155234 DHCR7 G>A	11	71155234	71155234	G	A	DHCR7	c.126C>T	NM_001360.2	NP_001351.2:p.(Ser42=)	NC_000011.9:g.71155234G>A	(Likely) benign	2 labs	317e77603e
17:41219639 BRCA1 A>G	17	41219639	41219639	A	G	BRCA1	c.5060T>C	NM_007294.4	NP_009225.1:p.(Val1687Ala)	NC_000017.10:g.41219639A>G	VUS	2 labs	e99739fde4
1:94473807 ABCA4 C>T	1	94473807	94473807	C	T	ABCA4	c.5882G>A	NM_000350.3	NP_000341.2:p.(Gly1961Glu)	NC_000001.10:g.94473807C>T	(Likely) pathogenic	3 labs	317c342984
16:2150067 PKD1 C>T	16	2150067	2150067	C	T	PKD1	c.9718G>A	NM_001009944.2	NP_001009944.2:p.(Ala3240Thr)	NC_000016.9:g.2150067C>T	(Likely) benign	2 labs	3189a986d9
16:2159090 PKD1 G>A	16	2159090	2159090	G	A	PKD1	c.6078C>T	NM_001009944.2	NP_001009944.2:p.(Val2026=)	NC_000016.9:g.2159090G>A	(Likely) benign	2 labs	3195f43f00
6:145948827 EPM2A G>A	6	145948827	145948827	G	A	EPM2A	c.721C>T	NM_005670.3	NP_005661.1:p.(Arg241Ter)	NC_000006.11:g.145948827G>A	(Likely) pathogenic	2 labs	31962685a8
13:32907433 BRCA2 G>A	13	32907433	32907433	G	A	BRCA2	c.1818G>A	NM_000059.4	NP_000050.3:p.(Pro606=)	NC_000013.10:g.32907433G>A	(Likely) benign	4 labs	e99f90a0be
X:49957476 AKAP4 C>T	X	49957476	49957476	C	T	AKAP4	c.1888G>A	NM_003886.2	NP_003877.2:p.(Val630Ile)	NC_000023.10:g.49957476C>T	VUS	2 labs	319d260232
16:89167458 ACSF3 C>A	16	89167458	89167458	C	A	ACSF3	c.369C>A	NM_001243279.3	NP_001230208.1:p.(Val123=)	NC_000016.9:g.89167458C>A	(Likely) benign	2 labs	e9a0e78ae4
3:129207102 IFT122 C>T	3	129207102	129207102	C	T	IFT122	c.2007C>T	NM_052985.3	NP_443711.2:p.(Ser669=)	NC_000003.11:g.129207102C>T	(Likely) benign	4 labs	31a91dd497
2:44204176 LRPPRC A>C	2	44204176	44204176	A	C	LRPPRC	c.607T>G	NM_133259.3	NP_573566.2:p.(Leu203Val)	NC_000002.11:g.44204176A>C	VUS	2 labs	31b0a7a323
2:8871797 KIDINS220 C>A	2	8871797	8871797	C	A	KIDINS220	c.4369G>T	NM_020738.4	NP_065789.1:p.(Val1457Phe)	NC_000002.11:g.8871797C>A	VUS	2 labs	e9a1510541
17:7579596 TP53 G>A	17	7579596	7579596	G	A	TP53	c.97-6C>T	NM_001126114.2	NP_001119586.1:p.?	NC_000017.10:g.7579596G>A	(Likely) benign	2 labs	31b27514a2
1:201334755 TNNT2 C>T	1	201334755	201334755	C	T	TNNT2	c.247G>A	NM_001276347.2	NP_001263276.1:p.(Glu83Lys)	NC_000001.10:g.201334755C>T	(Likely) pathogenic	4 labs	31b430f4e6
11:17517225 USH1C C>A	11	17517225	17517225	C	A	USH1C	c.2547-1G>T	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17517225C>A	(Likely) pathogenic	2 labs	31c28847cb
11:31625375 ELP4 C>T	11	31625375	31625375	C	T	ELP4	c.574C>T	NM_001288726.1	NP_001275655.1:p.(Gln192Ter)	NC_000011.9:g.31625375C>T	VUS	2 labs	31c52fca8b
16:70295064 AARS1 A>T	16	70295064	70295064	A	T	AARS1	c.1672-4T>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70295064A>T	(Likely) benign	4 labs	e9a4d8e722
10:123279564 FGFR2 A>G	10	123279564	123279564	A	G	FGFR2	c.868T>C	NM_000141.4	NP_000132.3:p.(Trp290Arg)	NC_000010.10:g.123279564A>G	(Likely) pathogenic	2 labs	31c6aadfa0
X:15841270 ZRSR2 C>T	X	15841270	15841270	C	T	ZRSR2	c.1354C>T	NM_005089.3	NP_005080.1:p.(Arg452Cys)	NC_000023.10:g.15841270C>T	(Likely) benign	2 labs	31ca156fde
7:151874608 KMT2C T>C	7	151874608	151874608	T	C	KMT2C	c.7930A>G	NM_170606.2	NP_733751.2:p.(Met2644Val)	NC_000007.13:g.151874608T>C	(Likely) benign	2 labs	31cc97ee0a
19:10274009 DNMT1 T>C	19	10274009	10274009	T	C	DNMT1	c.919A>G	NM_001130823.1	NP_001124295.1:p.(Lys307Glu)	NC_000019.9:g.10274009T>C	(Likely) benign	2 labs	31d5ac313a
X:48547416 WAS G>A	X	48547416	48547416	G	A	WAS	c.1299G>A	NM_000377.2	NP_000368.1:p.(Ala433=)	NC_000023.10:g.48547416G>A	(Likely) benign	3 labs	31db18cc8d
9:35740293 GBA2 C>G	9	35740293	35740293	C	G	GBA2	c.1196G>C	NM_020944.2	NP_065995.1:p.(Arg399Pro)	NC_000009.11:g.35740293C>G	(Likely) benign	3 labs	31dbbf4ce3
19:7125518 INSR C>T	19	7125518	7125518	C	T	INSR	c.3034G>A	NM_000208.4	NP_000199.2:p.(Val1012Met)	NC_000019.9:g.7125518C>T	(Likely) benign	3 labs	e9a688c004
17:41245927 BRCA1 G>A	17	41245927	41245927	G	A	BRCA1	c.1621C>T	NM_007294.4	NP_009225.1:p.(Gln541Ter)	NC_000017.10:g.41245927G>A	(Likely) pathogenic	3 labs	31ded4b884
11:66483381 SPTBN2 G>A	11	66483381	66483381	G	A	SPTBN2	c.229C>T	NM_006946.3	NP_008877.1:p.(Arg77Trp)	NC_000011.9:g.66483381G>A	VUS	2 labs	31e038d2f1
17:78073589 CCDC40 T>C	17	78073589	78073589	T	C	CCDC40	c.*15T>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78073589T>C	(Likely) benign	2 labs	31e411e503
16:56901062 SLC12A3 G>C	16	56901062	56901062	G	C	SLC12A3	c.363G>C	NM_000339.2	NP_000330.2:p.(Glu121Asp)	NC_000016.9:g.56901062G>C	(Likely) benign	2 labs	31e444c7b5
5:39342243 C9 T>A	5	39342243	39342243	T	A	C9	c.133A>T	NM_001737.3	NP_001728.1:p.(Met45Leu)	NC_000005.9:g.39342243T>A	(Likely) benign	3 labs	31e50351e0
1:120502009 NOTCH2 C>A	1	120502009	120502009	C	A	NOTCH2	c.2026+6G>T	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120502009C>A	(Likely) benign	2 labs	31f8f86b46
10:69926343 MYPN G>A	10	69926343	69926343	G	A	MYPN	c.1011G>A	NM_001256268.2	NP_001243197.1:p.(Arg337=)	NC_000010.10:g.69926343G>A	(Likely) benign	3 labs	e9b7aa91e4
X:153284723 IRAK1 T>G	X	153284723	153284723	T	G	IRAK1	c.361A>C	NM_001569.3	NP_001560.2:p.(Ile121Leu)	NC_000023.10:g.153284723T>G	(Likely) benign	2 labs	3205bc0364
13:95230384 TGDS A>G	13	95230384	95230384	A	G	TGDS	c.604T>C	NM_001304430.1	NP_001291359.1:p.(Tyr202His)	NC_000013.10:g.95230384A>G	(Likely) pathogenic	2 labs	3206d0940c
2:110922226 NPHP1 G>A	2	110922226	110922226	G	A	NPHP1	c.810C>T	NM_000272.3	NP_000263.2:p.(Cys270=)	NC_000002.11:g.110922226G>A	(Likely) benign	2 labs	320aa86317
10:112544614 RBM20 C>A	10	112544614	112544614	C	A	RBM20	c.1494C>A	NM_001134363.3	NP_001127835.2:p.(Ser498Arg)	NC_000010.10:g.112544614C>A	VUS	3 labs	e9b7ce9a12
20:13789522 NDUFAF5 T>C	20	13789522	13789522	T	C	NDUFAF5	c.191T>C	NM_001352407.1	NP_001339336.1:p.(Met64Thr)	NC_000020.10:g.13789522T>C	VUS	2 labs	3211d13ecb
17:1679941 SERPINF1 T>C	17	1679941	1679941	T	C	SERPINF1	c.902T>C	NM_002615.6	NP_002606.3:p.(Ile301Thr)	NC_000017.10:g.1679941T>C	VUS	2 labs	32152302da
11:47727193 AGBL2 C>CAA	11	47727193	47727209	C	CAA	AGBL2	c.287-9_287-8dup	NM_024783.4	NP_079059.2:p.?	NC_000011.9:g.47727208_47727209dup	(Likely) benign	2 labs	32247ed605
13:39266619 FREM2 A>G	13	39266619	39266619	A	G	FREM2	c.5138A>G	NM_207361.5	NP_997244.4:p.(Asp1713Gly)	NC_000013.10:g.39266619A>G	(Likely) benign	2 labs	3226b28d19
X:135288752 FHL1 C>T	X	135288752	135288752	C	T	FHL1	c.156+5C>T	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135288752C>T	(Likely) benign	6 labs	322a91cad3
7:117304875 CFTR T>C	7	117304875	117304875	T	C	CFTR	c.4097T>C	NM_000492.4	NP_000483.3:p.(Ile1366Thr)	NC_000007.13:g.117304875T>C	VUS	2 labs	322b8cc6a1
13:110855995 COL4A1 TA>T	13	110855995	110855998	TA	T	COL4A1	c.958-42del	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110855998del	(Likely) benign	2 labs	322d815f8f
15:63349283 TPM1 G>C	15	63349283	63349283	G	C	TPM1	c.340G>C	NM_001018005.2	NP_001018005.1:p.(Glu114Gln)	NC_000015.9:g.63349283G>C	VUS	2 labs	e9cedd0cda
5:226090 SDHA C>T	5	226090	226090	C	T	SDHA	c.549C>T	NM_004168.4	NP_004159.2:p.(Gly183=)	NC_000005.9:g.226090C>T	(Likely) benign	3 labs	3239dbf13f
18:52895531 TCF4 T>C	18	52895531	52895531	T	C	TCF4	c.1941A>G	NM_001083962.2	NP_001077431.1:p.(Ser647=)	NC_000018.9:g.52895531T>C	(Likely) benign	2 labs	e9cf0caf00
10:74992768 FAM149B1 G>A	10	74992768	74992768	G	A	FAM149B1	c.1199G>A	NM_173348.1	NP_775483.1:p.(Arg400Gln)	NC_000010.10:g.74992768G>A	VUS	2 labs	32411d7462
6:33156206 COL11A2 C>T	6	33156206	33156206	C	T	COL11A2	c.539G>A	NM_080680.2	NP_542411.2:p.(Arg180His)	NC_000006.11:g.33156206C>T	VUS	2 labs	3241bbd483
1:198675959 PTPRC G>T	1	198675959	198675959	G	T	PTPRC	c.782G>T	NM_002838.4	NP_002829.3:p.(Gly261Val)	NC_000001.10:g.198675959G>T	(Likely) benign	2 labs	3244880287
14:35871824 NFKBIA G>C	14	35871824	35871824	G	C	NFKBIA	c.682C>G	NM_020529.3	NP_065390.1:p.(Gln228Glu)	NC_000014.8:g.35871824G>C	VUS	2 labs	324ae0182d
17:44087797 MAPT G>A	17	44087797	44087797	G	A	MAPT	c.915+29G>A	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44087797G>A	(Likely) benign	2 labs	324b1fcece
13:103504517 ERCC5 T>C	13	103504517	103504517	T	C	ERCC5	c.138T>C	NM_000123.4	NP_000114.3:p.(His46=)	NC_000013.10:g.103504517T>C	(Likely) benign	2 labs	324f229734
10:43606687 RET A>G	10	43606687	43606687	A	G	RET	c.1296A>G	NM_020975.6	NP_066124.1:p.(Ala432=)	NC_000010.10:g.43606687A>G	(Likely) benign	4 labs	324f6dc475
15:30385129 GOLGA8J G>A	15	30385129	30385129	G	A	GOLGA8J	c.1505G>A	NM_001282472.1	NP_001269401.1:p.(Arg502His)	NC_000015.9:g.30385129G>A	(Likely) benign	2 labs	32513a5cca
4:39511399 UGDH C>T	4	39511399	39511399	C	T	UGDH	c.792G>A	NM_003359.4	NP_003350.1:p.(Lys264=)	NC_000004.11:g.39511399C>T	(Likely) benign	2 labs	32548eb5b5
16:14029516 ERCC4 G>C	16	14029516	14029516	G	C	ERCC4	c.1727G>C	NM_005236.3	NP_005227.1:p.(Arg576Thr)	NC_000016.9:g.14029516G>C	VUS	2 labs	325be504d7
9:139264898 CARD9 G>T	9	139264898	139264898	G	T	CARD9	c.808-9C>A	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139264898G>T	(Likely) benign	2 labs	326591cc0a
2:228162381 COL4A3 T>C	2	228162381	228162381	T	C	COL4A3	c.3566-9T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228162381T>C	(Likely) benign	2 labs	326729557c
10:85962785 CDHR1 C>T	10	85962785	85962785	C	T	CDHR1	c.689C>T	NM_033100.4	NP_149091.1:p.(Thr230Ile)	NC_000010.10:g.85962785C>T	VUS	3 labs	32608e2c72
10:50732202 ERCC6 T>G	10	50732202	50732202	T	G	ERCC6	c.1274A>C	NM_000124.4	NP_000115.1:p.(Asp425Ala)	NC_000010.10:g.50732202T>G	VUS	2 labs	327264e874
13:77574983 CLN5 A>G	13	77574983	77574983	A	G	CLN5	c.956A>G	NM_006493.4	NP_006484.2:p.(Lys319Arg)	NC_000013.10:g.77574983A>G	(Likely) benign	5 labs	e9d55951ac
17:10298486 MYH8 ACT>A	17	10298486	10298492	ACT	A	MYH8	c.4924_4925del	NM_002472.3	NP_002463.2:p.(Ser1642PhefsTer20)	NC_000017.10:g.10298491_10298492del	VUS	2 labs	3278e4af96
2:179529237 TTN G>A	2	179529237	179529237	G	A	TTN	c.36230C>T	NM_001267550.2	NP_001254479.2:p.(Pro12077Leu)	NC_000002.11:g.179529237G>A	VUS	2 labs	e9dabad933
17:56436109 RNF43 C>T	17	56436109	56436109	C	T	RNF43	c.1028G>A	NM_017763.6	NP_060233.3:p.(Arg343His)	NC_000017.10:g.56436109C>T	(Likely) benign	2 labs	3282efcbd5
13:111164465 COL4A2 C>T	13	111164465	111164465	C	T	COL4A2	c.5066C>T	NM_001846.4	NP_001837.2:p.(Ser1689Phe)	NC_000013.10:g.111164465C>T	VUS	2 labs	328c9c7fd3
1:200586865 KIF14 G>A	1	200586865	200586865	G	A	KIF14	c.987C>T	NM_014875.2	NP_055690.1:p.(Ser329=)	NC_000001.10:g.200586865G>A	(Likely) benign	2 labs	328e2d5fd6
16:29824442 PRRT2 G>A	16	29824442	29824442	G	A	PRRT2	c.67G>A	NM_001256443.2	NP_001243372.1:p.(Glu23Lys)	NC_000016.9:g.29824442G>A	(Likely) benign	3 labs	3294e4eddc
8:145737071 RECQL4 G>A	8	145737071	145737071	G	A	RECQL4	c.3495C>T	NM_004260.3	NP_004251.3:p.(His1165=)	NC_000008.10:g.145737071G>A	(Likely) benign	2 labs	329cc08b24
21:46925824 COL18A1 G>A	21	46925824	46925824	G	A	COL18A1	c.3160G>A	NM_001379500.1	NP_001366429.1:p.(Val1054Met)	NC_000021.8:g.46925824G>A	VUS	2 labs	32a0692a3e
3:170732426 SLC2A2 G>A	3	170732426	170732426	G	A	SLC2A2	c.203C>T	NM_000340.1	NP_000331.1:p.(Pro68Leu)	NC_000003.11:g.170732426G>A	(Likely) benign	2 labs	32a1ddd3e2
2:166183379 SCN2A A>G	2	166183379	166183379	A	G	SCN2A	c.2034A>G	NM_021007.3	NP_066287.2:p.(Thr678=)	NC_000002.11:g.166183379A>G	(Likely) benign	3 labs	e9e425deef
2:48018314 MSH6 T>A	2	48018314	48018314	T	A	MSH6	c.457+52T>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018314T>A	(Likely) benign	3 labs	32a7ace99a
3:38595955 SCN5A A>G	3	38595955	38595955	A	G	SCN5A	c.4628T>C	NM_198056.3	NP_932173.1:p.(Val1543Ala)	NC_000003.11:g.38595955A>G	VUS	4 labs	32a8a460a8
7:45113121 CCM2 G>A	7	45113121	45113121	G	A	CCM2	c.866G>A	NM_031443.4	NP_113631.1:p.(Ser289Asn)	NC_000007.13:g.45113121G>A	(Likely) benign	2 labs	32aecbe99e
16:2159396 PKD1 G>A	16	2159396	2159396	G	A	PKD1	c.5772C>T	NM_001009944.2	NP_001009944.2:p.(Gly1924=)	NC_000016.9:g.2159396G>A	(Likely) benign	2 labs	32b16e0468
7:75609659 POR C>T	7	75609659	75609659	C	T	POR	c.369C>T	NM_000941.2	NP_000932.3:p.(Ala123=)	NC_000007.13:g.75609659C>T	(Likely) benign	2 labs	32b55aea3d
2:179424117 TTN G>A	2	179424117	179424117	G	A	TTN	c.86742C>T	NM_001267550.1	NP_001254479.1:p.(Ile28914=)	NC_000002.11:g.179424117G>A	(Likely) benign	2 labs	32bca0f8e4
14:68220861 ZFYVE26 G>A	14	68220861	68220861	G	A	ZFYVE26	c.7055C>T	NM_015346.4	NP_056161.2:p.(Thr2352Ile)	NC_000014.8:g.68220861G>A	(Likely) benign	3 labs	32cadb6cea
15:51289605 AP4E1 C>T	15	51289605	51289605	C	T	AP4E1	c.2429C>T	NM_007347.4	NP_031373.2:p.(Thr810Ile)	NC_000015.9:g.51289605C>T	(Likely) benign	2 labs	32c5c9a92c
4:187629042 FAT1 G>A	4	187629042	187629042	G	A	FAT1	c.1940C>T	NM_005245.3	NP_005236.2:p.(Ala647Val)	NC_000004.11:g.187629042G>A	VUS	2 labs	32cae60ba6
9:137707474 COL5A1 C>T	9	137707474	137707474	C	T	COL5A1	c.4067C>T	NM_000093.4	NP_000084.3:p.(Ala1356Val)	NC_000009.11:g.137707474C>T	VUS	2 labs	32ce267489
X:32583877 DMD T>C	X	32583877	32583877	T	C	DMD	c.1934A>G	NM_004006.3	NP_003997.2:p.(Asp645Gly)	NC_000023.10:g.32583877T>C	(Likely) benign	2 labs	32cfc7542a
12:116445450 MED13L C>CA	12	116445450	116445470	C	CA	MED13L	c.2013-10dup	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445470dup	(Likely) benign	2 labs	32d6064bfe
1:237982386 RYR2 G>T	1	237982386	237982386	G	T	RYR2	c.14484G>T	NM_001035.3	NP_001026.2:p.(Gly4828=)	NC_000001.10:g.237982386G>T	(Likely) benign	2 labs	32defbe925
22:17589798 IL17RA C>T	22	17589798	17589798	C	T	IL17RA	c.1689C>T	NM_014339.6	NP_055154.3:p.(Gly563=)	NC_000022.10:g.17589798C>T	(Likely) benign	2 labs	32d7b23d70
14:23859371 MYH6 G>A	14	23859371	23859371	G	A	MYH6	c.3627C>T	NM_002471.4	NP_002462.2:p.(Ile1209=)	NC_000014.8:g.23859371G>A	(Likely) benign	3 labs	ea03a6a240
6:51751973 PKHD1 G>A	6	51751973	51751973	G	A	PKHD1	c.7067C>T	NM_138694.4	NP_619639.3:p.(Pro2356Leu)	NC_000006.11:g.51751973G>A	VUS	2 labs	ea03e44f73
6:65301854 EYS G>A	6	65301854	65301854	G	A	EYS	c.3906C>T	NM_001142800.1	NP_001136272.1:p.(His1302=)	NC_000006.11:g.65301854G>A	(Likely) benign	2 labs	32e9771f98
18:12348285 AFG3L2 T>C	18	12348285	12348285	T	C	AFG3L2	c.1650A>G	NM_006796.3	NP_006787.2:p.(Glu550=)	NC_000018.9:g.12348285T>C	(Likely) benign	3 labs	32fb1f7815
18:55273186 NARS1 T>C	18	55273186	55273186	T	C	NARS1	c.1154A>G	NM_004539.4	NP_004530.1:p.(Lys385Arg)	NC_000018.9:g.55273186T>C	VUS	2 labs	ea0dc8f4d4
X:32235151 DMD C>T	X	32235151	32235151	C	T	DMD	c.5951G>A	NM_004010.3	NP_004001.1:p.(Arg1984Gln)	NC_000023.10:g.32235151C>T	(Likely) benign	2 labs	32ff4912d8
X:132888207 GPC3 TA>T	X	132888207	132888223	TA	T	GPC3	c.338-5del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132888223del	(Likely) benign	3 labs	32fa6559a0
5:82836241 VCAN C>T	5	82836241	82836241	C	T	VCAN	c.7419C>T	NM_004385.5	NP_004376.2:p.(Ser2473=)	NC_000005.9:g.82836241C>T	(Likely) benign	2 labs	3308128405
16:3299749 MEFV G>A	16	3299749	3299749	G	A	MEFV	c.942C>T	NM_000243.3	NP_000234.1:p.(Arg314=)	NC_000016.9:g.3299749G>A	(Likely) benign	2 labs	ea19fcd2f7
21:47805773 PCNT T>C	21	47805773	47805773	T	C	PCNT	c.3339T>C	NM_006031.6	NP_006022.3:p.(Ser1113=)	NC_000021.8:g.47805773T>C	(Likely) benign	2 labs	332683c31b
2:191184475 HIBCH A>G	2	191184475	191184475	A	G	HIBCH	c.2T>C	NM_014362.4	NP_055177.2:p.(Met1?)	NC_000002.11:g.191184475A>G	(Likely) benign	2 labs	ea1f7c7876
22:29091782 CHEK2 G>A	22	29091782	29091782	G	A	CHEK2	c.1175C>T	NM_007194.4	NP_009125.1:p.(Ala392Val)	NC_000022.10:g.29091782G>A	(Likely) pathogenic	4 labs	ea1f80c062
9:107578620 ABCA1 G>A	9	107578620	107578620	G	A	ABCA1	c.3542C>T	NM_005502.4	NP_005493.2:p.(Ser1181Phe)	NC_000009.11:g.107578620G>A	VUS	2 labs	332f2199cf
2:179438722 TTN G>A	2	179438722	179438722	G	A	TTN	c.72137C>T	NM_001267550.2	NP_001254479.2:p.(Ala24046Val)	NC_000002.11:g.179438722G>A	(Likely) benign	3 labs	334b3b9f7d
20:428553 TBC1D20 T>C	20	428553	428553	T	C	TBC1D20	c.236A>G	NM_144628.3	NP_653229.1:p.(Asn79Ser)	NC_000020.10:g.428553T>C	(Likely) benign	2 labs	33506d2e8a
13:110830413 COL4A1 G>C	13	110830413	110830413	G	C	COL4A1	c.2624C>G	NM_001845.6	NP_001836.3:p.(Pro875Arg)	NC_000013.10:g.110830413G>C	(Likely) benign	3 labs	335f993eb6
2:170129474 LRP2 G>A	2	170129474	170129474	G	A	LRP2	c.2079C>T	NM_004525.3	NP_004516.2:p.(Phe693=)	NC_000002.11:g.170129474G>A	(Likely) benign	2 labs	335b2dfd6f
1:45800033 MUTYH T>C	1	45800033	45800033	T	C	MUTYH	c.157+30A>G	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45800033T>C	(Likely) benign	2 labs	3362bfac4d
1:154574443 ADAR C>T	1	154574443	154574443	C	T	ADAR	c.675G>A	NM_001111.5	NP_001102.3:p.(Pro225=)	NC_000001.10:g.154574443C>T	(Likely) benign	2 labs	3365c04bc0
19:54631671 PRPF31 CGT>C	19	54631671	54631673	CGT	C	PRPF31	c.1074-8_1074-7del	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54631672_54631673del	(Likely) benign	2 labs	336e9be3ca
16:57687239 ADGRG1 C>T	16	57687239	57687239	C	T	ADGRG1	c.612C>T	NM_001145772.3	NP_001139244.1:p.(Pro204=)	NC_000016.9:g.57687239C>T	(Likely) benign	2 labs	33668a76bb
2:48026692 MSH6 TAC>T	2	48026692	48026695	TAC	T	MSH6	c.1572_1573del	NM_000179.3	NP_000170.1:p.(Tyr524Ter)	NC_000002.11:g.48026694_48026695del	(Likely) pathogenic	3 labs	ea2b79d683
18:34261473 FHOD3 G>A	18	34261473	34261473	G	A	FHOD3	c.1385G>A	NM_025135.5	NP_079411.2:p.(Arg462Gln)	NC_000018.9:g.34261473G>A	(Likely) benign	4 labs	ea2c8d411e
2:179469608 TTN T>G	2	179469608	179469608	T	G	TTN	c.54208A>C	NM_001267550.2	NP_001254479.2:p.(Arg18070=)	NC_000002.11:g.179469608T>G	(Likely) benign	3 labs	33771531d5
X:12735177 FRMPD4 A>G	X	12735177	12735177	A	G	FRMPD4	c.2599A>G	NM_014728.3	NP_055543.2:p.(Asn867Asp)	NC_000023.10:g.12735177A>G	(Likely) benign	2 labs	33810a7110
16:88909159 GALNS G>T	16	88909159	88909159	G	T	GALNS	c.199C>A	NM_000512.4	NP_000503.1:p.(Leu67Met)	NC_000016.9:g.88909159G>T	(Likely) benign	2 labs	3383748280
8:100147957 VPS13B A>G	8	100147957	100147957	A	G	VPS13B	c.1559A>G	NM_017890.5	NP_060360.3:p.(His520Arg)	NC_000008.10:g.100147957A>G	VUS	3 labs	3388cc80cc
1:156105903 LMNA A>G	1	156105903	156105903	A	G	LMNA	c.1148A>G	NM_170707.4	NP_733821.1:p.(Glu383Gly)	NC_000001.10:g.156105903A>G	VUS	3 labs	ea35f2658a
13:111143629 COL4A2 C>T	13	111143629	111143629	C	T	COL4A2	c.3396C>T	NM_001846.3	NP_001837.2:p.(Phe1132=)	NC_000013.10:g.111143629C>T	(Likely) benign	2 labs	338e02fc01
13:111109762 COL4A2 G>A	13	111109762	111109762	G	A	COL4A2	c.1412G>A	NM_001846.3	NP_001837.2:p.(Arg471His)	NC_000013.10:g.111109762G>A	VUS	2 labs	3393a58b01
9:123769184 C5 G>A	9	123769184	123769184	G	A	C5	c.2438C>T	NM_001317163.1	NP_001304092.1:p.(Thr813Ile)	NC_000009.11:g.123769184G>A	(Likely) benign	2 labs	33959ef0d1
6:133769326 EYA4 G>A	6	133769326	133769326	G	A	EYA4	c.277+9G>A	NM_004100.4	NP_004091.3:p.?	NC_000006.11:g.133769326G>A	(Likely) benign	2 labs	3396292db3
17:78063996 CCDC40 A>T	17	78063996	78063996	A	T	CCDC40	c.2891A>T	NM_001243342.2	NP_001230271.1:p.(His964Leu)	NC_000017.10:g.78063996A>T	(Likely) benign	3 labs	33b583912f
1:94480178 ABCA4 G>T	1	94480178	94480178	G	T	ABCA4	c.5381C>A	NM_000350.3	NP_000341.2:p.(Ala1794Asp)	NC_000001.10:g.94480178G>T	(Likely) pathogenic	3 labs	33bb0059e7
16:2165437 PKD1 T>A	16	2165437	2165437	T	A	PKD1	c.2039A>T	NM_001009944.2	NP_001009944.2:p.(Tyr680Phe)	NC_000016.9:g.2165437T>A	(Likely) benign	2 labs	33bb2860de
11:118369169 KMT2A C>T	11	118369169	118369169	C	T	KMT2A	c.5887C>T	NM_001197104.1	NP_001184033.1:p.(Arg1963Ter)	NC_000011.9:g.118369169C>T	(Likely) pathogenic	2 labs	33c1596622
2:179415906 TTN C>T	2	179415906	179415906	C	T	TTN	c.91352G>A	NM_001267550.2	NP_001254479.2:p.(Gly30451Asp)	NC_000002.11:g.179415906C>T	VUS	2 labs	33c5c9ba45
15:68506666 CLN6 T>C	15	68506666	68506666	T	C	CLN6	c.259A>G	NM_017882.2	NP_060352.1:p.(Met87Val)	NC_000015.9:g.68506666T>C	VUS	2 labs	33c6af873f
6:138202352 TNFAIP3 C>A	6	138202352	138202352	C	A	TNFAIP3	c.2269C>A	NM_001270508.2	NP_001257437.1:p.(Pro757Thr)	NC_000006.11:g.138202352C>A	(Likely) benign	2 labs	33cc853f87
3:38620946 SCN5A G>A	3	38620946	38620946	G	A	SCN5A	c.3269C>T	NM_198056.3	NP_932173.1:p.(Pro1090Leu)	NC_000003.11:g.38620946G>A	(Likely) benign	4 labs	33cae0e1b8
1:220363411 RAB3GAP2 T>C	1	220363411	220363411	T	C	RAB3GAP2	c.1709A>G	NM_012414.3	NP_036546.2:p.(Asn570Ser)	NC_000001.10:g.220363411T>C	(Likely) benign	2 labs	33d2dc1940
11:108202275 ATM C>A	11	108202275	108202275	C	A	ATM	c.7620C>A	NM_001351834.1	NP_001338763.1:p.(Val2540=)	NC_000011.9:g.108202275C>A	(Likely) benign	2 labs	33d526f2e9
12:33031396 PKP2 A>T	12	33031396	33031396	A	T	PKP2	c.418T>A	NM_004572.4	NP_004563.2:p.(Ser140Thr)	NC_000012.11:g.33031396A>T	VUS	2 labs	33df232bf1
1:103345315 COL11A1 C>T	1	103345315	103345315	C	T	COL11A1	c.5234G>A	NM_080629.2	NP_542196.2:p.(Arg1745His)	NC_000001.10:g.103345315C>T	(Likely) benign	2 labs	33e2e87a10
7:103275961 RELN A>G	7	103275961	103275961	A	G	RELN	c.2376T>C	NM_173054.2	NP_774959.1:p.(Gly792=)	NC_000007.13:g.103275961A>G	(Likely) benign	2 labs	33ea569f91
2:239237460 TRAF3IP1 A>G	2	239237460	239237460	A	G	TRAF3IP1	c.488A>G	NM_015650.3	NP_056465.2:p.(Lys163Arg)	NC_000002.11:g.239237460A>G	(Likely) benign	2 labs	33f6ee4f8f
3:12645699 RAF1 G>A	3	12645699	12645699	G	A	RAF1	c.770C>T	NM_002880.4	NP_002871.1:p.(Ser257Leu)	NC_000003.11:g.12645699G>A	(Likely) pathogenic	4 labs	33f88257d2
4:126241224 FAT4 T>A	4	126241224	126241224	T	A	FAT4	c.3658T>A	NM_024582.4	NP_078858.4:p.(Ser1220Thr)	NC_000004.11:g.126241224T>A	VUS	2 labs	34028ad285
5:39341337 C9 T>G	5	39341337	39341337	T	G	C9	c.387A>C	NM_001737.3	NP_001728.1:p.(Ser129=)	NC_000005.9:g.39341337T>G	(Likely) benign	3 labs	340f061366
3:167512569 SERPINI1 G>A	3	167512569	167512569	G	A	SERPINI1	c.838G>A	NM_005025.5	NP_005016.1:p.(Ala280Thr)	NC_000003.11:g.167512569G>A	(Likely) benign	2 labs	340cce4ffe
7:33427634 BBS9 C>T	7	33427634	33427634	C	T	BBS9	c.1993C>T	NM_198428.3	NP_940820.1:p.(Leu665Phe)	NC_000007.13:g.33427634C>T	(Likely) benign	2 labs	34286366a9
15:51000006 SPPL2A G>C	15	51000006	51000006	G	C	SPPL2A	c.1554C>G	NM_032802.4	NP_116191.2:p.(Val518=)	NC_000015.9:g.51000006G>C	(Likely) benign	2 labs	342e529c39
8:32617713 NRG1 C>T	8	32617713	32617713	C	T	NRG1	c.1077-5C>T	NM_013956.4	NP_039250.2:p.?	NC_000008.10:g.32617713C>T	(Likely) benign	2 labs	3432076a0a
12:9001488 A2ML1 C>T	12	9001488	9001488	C	T	A2ML1	c.2006C>T	NM_144670.5	NP_653271.2:p.(Thr669Met)	NC_000012.11:g.9001488C>T	(Likely) benign	2 labs	343eb264c5
17:41245834 BRCA1 C>A	17	41245834	41245834	C	A	BRCA1	c.1714G>T	NM_007294.4	NP_009225.1:p.(Glu572Ter)	NC_000017.10:g.41245834C>A	(Likely) pathogenic	2 labs	ea4d4bb8d7
19:50832152 KCNC3 T>C	19	50832152	50832152	T	C	KCNC3	c.188A>G	NM_004977.3	NP_004968.2:p.(Asp63Gly)	NC_000019.9:g.50832152T>C	(Likely) benign	4 labs	ea4dc30984
6:161152107 PLG G>A	6	161152107	161152107	G	A	PLG	c.1281G>A	NM_000301.3	NP_000292.1:p.(Arg427=)	NC_000006.11:g.161152107G>A	(Likely) benign	2 labs	34468640f2
X:54020212 PHF8 G>A	X	54020212	54020212	G	A	PHF8	c.1448C>T	NM_015107.3	NP_055922.1:p.(Ser483Leu)	NC_000023.10:g.54020212G>A	VUS	2 labs	ea5e4c15d0
6:129571330 LAMA2 G>A	6	129571330	129571330	G	A	LAMA2	c.1856G>A	NM_000426.4	NP_000417.3:p.(Arg619His)	NC_000006.11:g.129571330G>A	(Likely) benign	3 labs	ea5f682573
9:14740229 FREM1 G>A	9	14740229	14740229	G	A	FREM1	c.6258C>T	NM_144966.5	NP_659403.4:p.(Tyr2086=)	NC_000009.11:g.14740229G>A	(Likely) benign	2 labs	345445a9bb
6:51890757 PKHD1 G>A	6	51890757	51890757	G	A	PKHD1	c.3851C>T	NM_138694.3	NP_619639.3:p.(Pro1284Leu)	NC_000006.11:g.51890757G>A	(Likely) benign	3 labs	3456d87397
19:1388862 NDUFS7 C>T	19	1388862	1388862	C	T	NDUFS7	c.153C>T	NM_024407.5	NP_077718.3:p.(Ala51=)	NC_000019.9:g.1388862C>T	(Likely) benign	2 labs	346614ef12
7:143017807 CLCN1 G>T	7	143017807	143017807	G	T	CLCN1	c.352G>T	NM_000083.3	NP_000074.3:p.(Gly118Trp)	NC_000007.13:g.143017807G>T	(Likely) benign	2 labs	ea65dfe79e
6:76608128 MYO6 G>C	6	76608128	76608128	G	C	MYO6	c.3176G>C	NM_004999.3	NP_004990.3:p.(Arg1059Thr)	NC_000006.11:g.76608128G>C	VUS	2 labs	3469696885
12:49445501 KMT2D G>T	12	49445501	49445501	G	T	KMT2D	c.1965C>A	NM_003482.3	NP_003473.3:p.(Pro655=)	NC_000012.11:g.49445501G>T	(Likely) benign	2 labs	346c754dab
12:6132918 VWF G>A	12	6132918	6132918	G	A	VWF	c.3258C>T	NM_000552.3	NP_000543.2:p.(Tyr1086=)	NC_000012.11:g.6132918G>A	(Likely) benign	2 labs	34757126a3
1:46657878 POMGNT1 CAT>C	1	46657878	46657880	CAT	C	POMGNT1	c.1429_1430del	NM_017739.4	NP_060209.4:p.(Met477ValfsTer6)	NC_000001.10:g.46657879_46657880del	(Likely) pathogenic	2 labs	34757d6915
2:228111435 COL4A3 T>C	2	228111435	228111435	T	C	COL4A3	c.422T>C	NM_000091.5	NP_000082.2:p.(Leu141Pro)	NC_000002.11:g.228111435T>C	(Likely) benign	2 labs	ea76e24244
9:133963142 LAMC3 G>A	9	133963142	133963142	G	A	LAMC3	c.4415G>A	NM_006059.4	NP_006050.3:p.(Arg1472Gln)	NC_000009.11:g.133963142G>A	(Likely) benign	2 labs	348077c6df
5:56111751 MAP3K1 G>C	5	56111751	56111751	G	C	MAP3K1	c.351G>C	NM_005921.2	NP_005912.1:p.(Ala117=)	NC_000005.9:g.56111751G>C	(Likely) benign	2 labs	348ad670e0
18:42532604 SETBP1 A>G	18	42532604	42532604	A	G	SETBP1	c.3299A>G	NM_015559.3	NP_056374.2:p.(His1100Arg)	NC_000018.9:g.42532604A>G	(Likely) benign	2 labs	348cab28dc
X:107422058 COL4A6 C>T	X	107422058	107422058	C	T	COL4A6	c.2422G>A	NM_001287758.1	NP_001274687.1:p.(Gly808Ser)	NC_000023.10:g.107422058C>T	(Likely) benign	2 labs	3494e4af75
4:123663114 BBS12 G>A	4	123663114	123663114	G	A	BBS12	c.67G>A	NM_001178007.1	NP_001171478.1:p.(Ala23Thr)	NC_000004.11:g.123663114G>A	VUS	2 labs	34a449e0d5
19:10224845 P2RY11 G>A	19	10224845	10224845	G	A	P2RY11	c.556G>A	NM_002566.4	NP_002557.2:p.(Glu186Lys)	NC_000019.9:g.10224845G>A	(Likely) benign	2 labs	34a54440af
1:22973910 C1QC C>T	1	22973910	22973910	C	T	C1QC	c.372C>T	NM_001347619.1	NP_001334548.1:p.(Val124=)	NC_000001.10:g.22973910C>T	(Likely) benign	2 labs	34ad19dba3
11:108186757 ATM G>A	11	108186757	108186757	G	A	ATM	c.6115G>A	NM_001351834.1	NP_001338763.1:p.(Glu2039Lys)	NC_000011.9:g.108186757G>A	(Likely) pathogenic	2 labs	34b62f42c5
11:62397897 GANAB A>G	11	62397897	62397897	A	G	GANAB	c.744T>C	NM_001329224.1	NP_001316153.1:p.(Tyr248=)	NC_000011.9:g.62397897A>G	(Likely) benign	2 labs	34b6609c2c
7:21600745 DNAH11 C>T	7	21600745	21600745	C	T	DNAH11				NC_000007.13:g.21600745C>T	(Likely) benign	2 labs	34b6a44733
10:70775725 KIFBP C>G	10	70775725	70775725	C	G	KIFBP	c.1419C>G	NM_015634.3	NP_056449.1:p.(Ile473Met)	NC_000010.10:g.70775725C>G	VUS	2 labs	34b88e9b55
12:31253623 DDX11 G>A	12	31253623	31253623	G	A	DDX11	c.1930G>A	NM_030653.4	NP_085911.2:p.(Val644Met)	NC_000012.11:g.31253623G>A	VUS	2 labs	ea7d6a0752
5:169081453 DOCK2 G>C	5	169081453	169081453	G	C	DOCK2	c.90G>C	NM_004946.3	NP_004937.1:p.(Gln30His)	NC_000005.9:g.169081453G>C	(Likely) benign	2 labs	34c2ae8726
17:45369777 ITGB3 A>G	17	45369777	45369777	A	G	ITGB3	c.1533A>G	NM_000212.3	NP_000203.2:p.(Glu511=)	NC_000017.10:g.45369777A>G	(Likely) benign	2 labs	ea8188d73f
6:43485090 POLR1C C>T	6	43485090	43485090	C	T	POLR1C	c.116C>T	NM_203290.3	NP_976035.1:p.(Ala39Val)	NC_000006.11:g.43485090C>T	(Likely) benign	2 labs	34cc865dc4
X:79938022 BRWD3 G>A	X	79938022	79938022	G	A	BRWD3	c.4339C>T	NM_153252.5	NP_694984.5:p.(Arg1447Trp)	NC_000023.10:g.79938022G>A	VUS	3 labs	34d08f53d1
6:56392449 DST C>T	6	56392449	56392449	C	T	DST	c.11407G>A	NM_001144769.5	NP_001138241.1:p.(Ala3803Thr)	NC_000006.11:g.56392449C>T	VUS	2 labs	34dc2e633f
4:994456 IDUA A>C	4	994456	994456	A	C	IDUA	c.356A>C	NM_000203.5	NP_000194.2:p.(Asp119Ala)	NC_000004.11:g.994456A>C	VUS	2 labs	ea8550846b
21:47402555 COL6A1 C>G	21	47402555	47402555	C	G	COL6A1	c.105C>G	NM_001848.2	NP_001839.2:p.(Pro35=)	NC_000021.8:g.47402555C>G	(Likely) benign	3 labs	34e77c575c
15:85400150 ALPK3 G>C	15	85400150	85400150	G	C	ALPK3	c.2181G>C	NM_020778.5	NP_065829.4:p.(Glu727Asp)	NC_000015.9:g.85400150G>C	(Likely) benign	2 labs	34e07e376c
9:133936571 LAMC3 C>G	9	133936571	133936571	C	G	LAMC3	c.2308C>G	NM_006059.4	NP_006050.3:p.(Arg770Gly)	NC_000009.11:g.133936571C>G	(Likely) benign	2 labs	34fa039d3b
17:29553477 NF1 A>AC	17	29553477	29553484	A	AC	NF1	c.2033dup	NM_000267.3	NP_000258.1:p.(Ile679AspfsTer21)	NC_000017.10:g.29553484dup	(Likely) pathogenic	3 labs	34fdc7ec03
14:88431885 GALC C>T	14	88431885	88431885	C	T	GALC	c.997G>A	NM_000153.3	NP_000144.2:p.(Gly333Arg)	NC_000014.8:g.88431885C>T	VUS	2 labs	3503e131e3
8:145013572 PLEC T>C	8	145013572	145013572	T	C	PLEC	c.58A>G	NM_201384.2	NP_958786.1:p.(Ser20Gly)	NC_000008.10:g.145013572T>C	(Likely) benign	2 labs	3504316377
12:110012686 MVK A>C	12	110012686	110012686	A	C	MVK	c.59A>C	NM_000431.4	NP_000422.1:p.(His20Pro)	NC_000012.11:g.110012686A>C	(Likely) pathogenic	4 labs	35065e28ad
22:42606405 TCF20 T>A	22	42606405	42606405	T	A	TCF20	c.4907A>T	NM_005650.3	NP_005641.1:p.(His1636Leu)	NC_000022.10:g.42606405T>A	VUS	2 labs	3509468597
10:54053587 PRKG1 A>G	10	54053587	54053587	A	G	PRKG1	c.1943A>G	NM_001098512.3	NP_001091982.1:p.(Asn648Ser)	NC_000010.10:g.54053587A>G	VUS	3 labs	ea8a5864f3
2:15307356 NBAS C>T	2	15307356	15307356	C	T	NBAS	c.6932G>A	NM_015909.3	NP_056993.2:p.(Arg2311His)	NC_000002.11:g.15307356C>T	(Likely) benign	2 labs	350d927ce7
14:64565528 SYNE2 G>T	14	64565528	64565528	G	T	SYNE2	c.12370G>T	NM_182914.2	NP_878918.2:p.(Val4124Leu)	NC_000014.8:g.64565528G>T	(Likely) benign	2 labs	351b48f66d
2:179456186 TTN A>G	2	179456186	179456186	A	G	TTN	c.60266T>C	NM_001267550.2	NP_001254479.2:p.(Val20089Ala)	NC_000002.11:g.179456186A>G	VUS	3 labs	3516e3ecb1
1:247587315 NLRP3 C>T	1	247587315	247587315	C	T	NLRP3	c.564C>T	NM_001243133.1	NP_001230062.1:p.(Ile188=)	NC_000001.10:g.247587315C>T	(Likely) benign	2 labs	3522cc4fa2
14:23858671 MYH6 C>G	14	23858671	23858671	C	G	MYH6	c.3909G>C	NM_002471.4	NP_002462.2:p.(Leu1303=)	NC_000014.8:g.23858671C>G	(Likely) benign	3 labs	ea9768d68b
13:32893570 BRCA2 A>G	13	32893570	32893570	A	G	BRCA2	c.316+108A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893570A>G	(Likely) benign	3 labs	352c3384d1
5:37170178 CPLANE1 T>C	5	37170178	37170178	T	C	CPLANE1	c.6427A>G	NM_023073.3	NP_075561.3:p.(Ile2143Val)	NC_000005.9:g.37170178T>C	(Likely) benign	2 labs	35356fbcfc
17:29553474 NF1 G>A	17	29553474	29553474	G	A	NF1	c.2023G>A	NM_000267.3	NP_000258.1:p.(Gly675Arg)	NC_000017.10:g.29553474G>A	(Likely) benign	2 labs	353686915c
2:1658261 PXDN A>G	2	1658261	1658261	A	G	PXDN	c.1857T>C	NM_012293.3	NP_036425.1:p.(Asn619=)	NC_000002.11:g.1658261A>G	(Likely) benign	2 labs	353ae9b67d
1:237675029 RYR2 G>A	1	237675029	237675029	G	A	RYR2	c.2760G>A	NM_001035.3	NP_001026.2:p.(Glu920=)	NC_000001.10:g.237675029G>A	(Likely) benign	5 labs	35481ac57a
1:197091183 ASPM A>C	1	197091183	197091183	A	C	ASPM	c.3742-10T>G	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197091183A>C	(Likely) benign	3 labs	3549a51a99
10:12148326 DHTKD1 C>G	10	12148326	12148326	C	G	DHTKD1	c.1978C>G	NM_018706.6	NP_061176.3:p.(Leu660Val)	NC_000010.10:g.12148326C>G	(Likely) benign	2 labs	3558d50099
6:146480610 GRM1 A>C	6	146480610	146480610	A	C	GRM1	c.827A>C	NM_001278065.1	NP_001264994.1:p.(Lys276Thr)	NC_000006.11:g.146480610A>C	VUS	2 labs	3558e653cc
2:179466069 TTN C>T	2	179466069	179466069	C	T	TTN	c.55655G>A	NM_001267550.2	NP_001254479.2:p.(Arg18552His)	NC_000002.11:g.179466069C>T	VUS	3 labs	355ba09073
19:2111723 AP3D1 C>T	19	2111723	2111723	C	T	AP3D1	c.2892G>A	NM_001261826.3	NP_001248755.1:p.(Ala964=)	NC_000019.9:g.2111723C>T	(Likely) benign	3 labs	35641f3a9e
2:202050857 CASP10 G>T	2	202050857	202050857	G	T	CASP10	c.347+10G>T	NM_032977.3	NP_116759.2:p.?	NC_000002.11:g.202050857G>T	(Likely) benign	2 labs	35665dc03b
7:21779278 DNAH11 A>G	7	21779278	21779278	A	G	DNAH11	c.7901A>G	NM_001277115.2	NP_001264044.1:p.(Asn2634Ser)	NC_000007.13:g.21779278A>G	(Likely) benign	2 labs	356f998625
21:47847619 PCNT G>C	21	47847619	47847619	G	C	PCNT	c.7404G>C	NM_006031.5	NP_006022.3:p.(Gln2468His)	NC_000021.8:g.47847619G>C	(Likely) benign	2 labs	356cdf2662
2:233655834 GIGYF2 T>A	2	233655834	233655834	T	A	GIGYF2	c.1047T>A	NM_015575.3	NP_056390.2:p.(Asp349Glu)	NC_000002.11:g.233655834T>A	(Likely) benign	2 labs	3579481993
1:197094030 ASPM C>T	1	197094030	197094030	C	T	ASPM	c.3138G>A	NM_018136.5	NP_060606.3:p.(Arg1046=)	NC_000001.10:g.197094030C>T	(Likely) benign	2 labs	3582cfad65
8:72111663 EYA1 A>G	8	72111663	72111663	A	G	EYA1	c.1699-8T>C	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72111663A>G	(Likely) benign	2 labs	3589523b2a
10:13708309 FRMD4A C>T	10	13708309	13708309	C	T	FRMD4A	c.1490G>A	NM_001318337.2	NP_001305266.1:p.(Arg497His)	NC_000010.10:g.13708309C>T	VUS	2 labs	358c56d94b
14:20940606 PNP G>A	14	20940606	20940606	G	A	PNP	c.151G>A	NM_000270.4	NP_000261.2:p.(Gly51Ser)	NC_000014.8:g.20940606G>A	(Likely) benign	2 labs	eaa432874b
7:117235055 CFTR T>G	7	117235055	117235055	T	G	CFTR	c.2562T>G	NM_000492.4	NP_000483.3:p.(Thr854=)	NC_000007.13:g.117235055T>G	(Likely) benign	3 labs	3592ba810b
X:153593616 FLNA G>A	X	153593616	153593616	G	A	FLNA	c.1579C>T	NM_001110556.2	NP_001104026.1:p.(Arg527Cys)	NC_000023.10:g.153593616G>A	(Likely) benign	2 labs	3595fb4200
7:2578237 BRAT1 T>C	7	2578237	2578237	T	C	BRAT1	c.1932A>G	NM_152743.4	NP_689956.2:p.(Arg644=)	NC_000007.13:g.2578237T>C	(Likely) benign	2 labs	eaa98ac1e3
12:103352171 ASCL1 C>CGCAGCAGCAGCA	12	103352171	103352208	C	CGCAGCAGCAGCA	ASCL1	c.175_186dup	NM_004316.4	NP_004307.2:p.(Gln59_Gln62dup)	NC_000012.11:g.103352197_103352208dup	(Likely) benign	3 labs	3599c221a6
19:40900865 PRX C>T	19	40900865	40900865	C	T	PRX	c.3394G>A	NM_181882.3	NP_870998.2:p.(Gly1132Arg)	NC_000019.9:g.40900865C>T	(Likely) benign	3 labs	eaaa1f7259
19:10468668 TYK2 C>G	19	10468668	10468668	C	G	TYK2	c.2311+11G>C	NM_003331.5	NP_003322.3:p.?	NC_000019.9:g.10468668C>G	(Likely) benign	2 labs	eaaadb2d04
16:15814717 MYH11 C>T	16	15814717	15814717	C	T	MYH11	c.4791G>A	NM_001040113.2	NP_001035202.1:p.(Lys1597=)	NC_000016.9:g.15814717C>T	(Likely) benign	5 labs	35988bc953
12:98927281 TMPO A>G	12	98927281	98927281	A	G	TMPO	c.1246A>G	NM_003276.2	NP_003267.1:p.(Lys416Glu)	NC_000012.11:g.98927281A>G	(Likely) benign	2 labs	35a424e6d9
7:128484307 FLNC CT>C	7	128484307	128484308	CT	C	FLNC	c.3180del	NM_001458.5	NP_001449.3:p.(Asp1061IlefsTer17)	NC_000007.13:g.128484308del	(Likely) pathogenic	4 labs	35aa121931
8:144992781 PLEC C>T	8	144992781	144992781	C	T	PLEC	c.11619G>A	NM_201380.3	NP_958782.1:p.(Pro3873=)	NC_000008.10:g.144992781C>T	(Likely) benign	3 labs	35a97bd589
18:21113459 NPC1 G>T	18	21113459	21113459	G	T	NPC1	c.3614C>A	NM_000271.4	NP_000262.2:p.(Thr1205Lys)	NC_000018.9:g.21113459G>T	(Likely) pathogenic	2 labs	35ab5b59ef
3:38603913 SCN5A C>A	3	38603913	38603913	C	A	SCN5A	c.3956G>T	NM_001099404.2	NP_001092874.1:p.(Gly1319Val)	NC_000003.11:g.38603913C>A	(Likely) pathogenic	3 labs	eaab760c22
6:65301679 EYS T>C	6	65301679	65301679	T	C	EYS	c.4081A>G	NM_001142800.1	NP_001136272.1:p.(Ile1361Val)	NC_000006.11:g.65301679T>C	(Likely) benign	2 labs	35ae8f4507
11:836407 CD151 G>A	11	836407	836407	G	A	CD151	c.241G>A	NM_004357.5	NP_004348.2:p.(Ala81Thr)	NC_000011.9:g.836407G>A	VUS	2 labs	eaaf47b2d6
3:119134578 ARHGAP31 G>A	3	119134578	119134578	G	A	ARHGAP31	c.3802G>A	NM_020754.4	NP_065805.2:p.(Gly1268Arg)	NC_000003.11:g.119134578G>A	(Likely) benign	2 labs	eab2b01a00
1:6046264 NPHP4 G>A	1	6046264	6046264	G	A	NPHP4	c.86C>T	NM_015102.4	NP_055917.1:p.(Thr29Met)	NC_000001.10:g.6046264G>A	(Likely) benign	3 labs	35bd63560b
14:77746812 POMT2 T>C	14	77746812	77746812	T	C	POMT2	c.1654-6A>G	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77746812T>C	(Likely) benign	3 labs	35b8f05e72
8:6479042 MCPH1 C>T	8	6479042	6479042	C	T	MCPH1	c.2282C>T	NM_024596.5	NP_078872.3:p.(Ala761Val)	NC_000008.10:g.6479042C>T	(Likely) benign	3 labs	35bfc03f34
5:34950404 DNAJC21 G>A	5	34950404	34950404	G	A	DNAJC21	c.1450G>A	NM_194283.3	NP_919259.3:p.(Glu484Lys)	NC_000005.9:g.34950404G>A	(Likely) benign	2 labs	35bfefb9eb
X:152772523 BGN C>T	X	152772523	152772523	C	T	BGN	c.789C>T	NM_001711.6	NP_001702.1:p.(Asn263=)	NC_000023.10:g.152772523C>T	(Likely) benign	2 labs	35c3ceee36
1:45798269 MUTYH T>C	1	45798269	45798269	T	C	MUTYH	c.667A>G	NM_001128425.1	NP_001121897.1:p.(Ile223Val)	NC_000001.10:g.45798269T>C	VUS	2 labs	35ce80fa5b
2:170042245 LRP2 T>C	2	170042245	170042245	T	C	LRP2	c.9613A>G	NM_004525.3	NP_004516.2:p.(Asn3205Asp)	NC_000002.11:g.170042245T>C	(Likely) benign	3 labs	35cef71f17
2:179452670 TTN C>T	2	179452670	179452670	C	T	TTN	c.63464G>A	NM_001267550.2	NP_001254479.2:p.(Arg21155His)	NC_000002.11:g.179452670C>T	VUS	3 labs	35d8d4fe02
1:237608842 RYR2 C>T	1	237608842	237608842	C	T	RYR2	c.1292+20C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237608842C>T	(Likely) benign	3 labs	35e30caf1e
22:18643020 USP18 C>T	22	18643020	18643020	C	T	USP18	c.239C>T	NM_017414.4	NP_059110.2:p.(Thr80Ile)	NC_000022.10:g.18643020C>T	VUS	2 labs	35eeb42d36
3:78667081 ROBO1 T>C	3	78667081	78667081	T	C	ROBO1	c.3986A>G	NM_002941.4	NP_002932.1:p.(Glu1329Gly)	NC_000003.11:g.78667081T>C	VUS	2 labs	eabc163156
20:62320440 RTEL1 C>T	20	62320440	62320440	C	T	RTEL1	c.1833C>T	NM_001283009.1	NP_001269938.1:p.(Ala611=)	NC_000020.10:g.62320440C>T	(Likely) benign	2 labs	35f0fadb9b
22:41550997 EP300 A>T	22	41550997	41550997	A	T	EP300	c.3143-2A>T	NM_001429.3	NP_001420.2:p.?	NC_000022.10:g.41550997A>T	(Likely) benign	2 labs	35f4d14b29
5:176832166 F12 G>C	5	176832166	176832166	G	C	F12	c.418C>G	NM_000505.3	NP_000496.2:p.(Leu140Val)	NC_000005.9:g.176832166G>C	(Likely) benign	3 labs	35f576e1bb
2:179638729 TTN A>C	2	179638729	179638729	A	C	TTN	c.7166T>G	NM_001267550.2	NP_001254479.2:p.(Met2389Arg)	NC_000002.11:g.179638729A>C	VUS	2 labs	35f9a58830
X:153997508 DKC1 A>C	X	153997508	153997508	A	C	DKC1	c.838A>C	NM_001288747.1	NP_001275676.1:p.(Ser280Arg)	NC_000023.10:g.153997508A>C	VUS	3 labs	35fbb3fa2b
2:26424085 HADHA T>A	2	26424085	26424085	T	A	HADHA	c.1325A>T	NM_000182.5	NP_000173.2:p.(Asp442Val)	NC_000002.11:g.26424085T>A	VUS	3 labs	360443e57c
19:55677776 DNAAF3 G>A	19	55677776	55677776	G	A	DNAAF3	c.147C>T	NM_001256714.1	NP_001243643.1:p.(Thr49=)	NC_000019.9:g.55677776G>A	(Likely) benign	2 labs	35ffde5d88
6:111896863 TRAF3IP2 T>C	6	111896863	111896863	T	C	TRAF3IP2	c.1184A>G	NM_147686.4	NP_679211.2:p.(Asn395Ser)	NC_000006.11:g.111896863T>C	(Likely) benign	3 labs	360a2212de
1:5923976 NPHP4 G>A	1	5923976	5923976	G	A	NPHP4	c.4114C>T	NM_015102.5	NP_055917.1:p.(Leu1372=)	NC_000001.10:g.5923976G>A	(Likely) benign	3 labs	360517e54c
12:22063251 ABCC9 C>A	12	22063251	22063251	C	A	ABCC9	c.1165-5G>T	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22063251C>A	(Likely) benign	3 labs	36113cbb0b
10:88469837 LDB3 C>G	10	88469837	88469837	C	G	LDB3	c.1231+30C>G	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88469837C>G	(Likely) benign	2 labs	361dc4c79e
12:102158763 GNPTAB T>C	12	102158763	102158763	T	C	GNPTAB	c.1932A>G	NM_024312.5	NP_077288.2:p.(Thr644=)	NC_000012.11:g.102158763T>C	(Likely) benign	2 labs	361efacd21
7:50597056 DDC G>A	7	50597056	50597056	G	A	DDC	c.436-16C>T	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50597056G>A	(Likely) benign	3 labs	eac8442f2c
16:81410832 GAN A>G	16	81410832	81410832	A	G	GAN	c.1511A>G	NM_022041.4	NP_071324.1:p.(Tyr504Cys)	NC_000016.9:g.81410832A>G	VUS	2 labs	361fb226e3
8:145640774 SLC39A4 C>T	8	145640774	145640774	C	T	SLC39A4	c.429G>A	NM_017767.2	NP_060237.2:p.(Glu143=)	NC_000008.10:g.145640774C>T	(Likely) benign	2 labs	3628c97491
2:73799896 ALMS1 G>A	2	73799896	73799896	G	A	ALMS1	c.10895G>A	NM_015120.4	NP_055935.4:p.(Arg3632His)	NC_000002.11:g.73799896G>A	VUS	2 labs	36305f87f9
3:129180119 IFT122 A>G	3	129180119	129180119	A	G	IFT122	c.474A>G	NM_052985.3	NP_443711.2:p.(Gln158=)	NC_000003.11:g.129180119A>G	(Likely) benign	2 labs	363c39f57f
17:78083791 GAA C>T	17	78083791	78083791	C	T	GAA	c.1374C>T	NM_000152.5	NP_000143.2:p.(Tyr458=)	NC_000017.10:g.78083791C>T	(Likely) benign	4 labs	3643b7caff
2:166764284 TTC21B C>T	2	166764284	166764284	C	T	TTC21B	c.2472G>A	NM_024753.4	NP_079029.3:p.(Leu824=)	NC_000002.11:g.166764284C>T	(Likely) benign	2 labs	364424129e
X:153590447 FLNA A>G	X	153590447	153590447	A	G	FLNA	c.2726T>C	NM_001110556.2	NP_001104026.1:p.(Val909Ala)	NC_000023.10:g.153590447A>G	VUS	2 labs	3649cbf3c0
5:42689043 GHR CTT>C	5	42689043	42689048	CTT	C	GHR	c.192_193del	NM_000163.5	NP_000154.1:p.(Ser65MetfsTer6)	NC_000005.9:g.42689047_42689048del	(Likely) pathogenic	2 labs	364f5b3dde
3:70014098 MITF T>C	3	70014098	70014098	T	C	MITF	c.1211T>C	NM_001354607.1	NP_001341536.1:p.(Val404Ala)	NC_000003.11:g.70014098T>C	(Likely) benign	2 labs	3653c6996d
14:55169146 SAMD4A A>G	14	55169146	55169146	A	G	SAMD4A	c.563A>G	NM_015589.5	NP_056404.4:p.(Asn188Ser)	NC_000014.8:g.55169146A>G	VUS	2 labs	3659b98bdc
16:2548257 TBC1D24 C>T	16	2548257	2548257	C	T	TBC1D24	c.1002C>T	NM_001199107.2	NP_001186036.1:p.(Ala334=)	NC_000016.9:g.2548257C>T	(Likely) benign	3 labs	365eda66a4
6:51768795 PKHD1 C>T	6	51768795	51768795	C	T	PKHD1	c.6854G>A	NM_138694.4	NP_619639.3:p.(Gly2285Glu)	NC_000006.11:g.51768795C>T	(Likely) benign	4 labs	36613280c6
20:62559815 DNAJC5 C>T	20	62559815	62559815	C	T	DNAJC5	c.107+10C>T	NM_025219.2	NP_079495.1:p.?	NC_000020.10:g.62559815C>T	(Likely) benign	2 labs	3668eb18d7
2:179414162 TTN T>C	2	179414162	179414162	T	C	TTN	c.92191A>G	NM_001267550.2	NP_001254479.2:p.(Ile30731Val)	NC_000002.11:g.179414162T>C	(Likely) benign	5 labs	3665d739ca
7:44186214 GCK A>G	7	44186214	44186214	A	G	GCK	c.867T>C	NM_001354800.1	NP_001341729.1:p.(Tyr289=)	NC_000007.13:g.44186214A>G	(Likely) benign	2 labs	366c91c567
5:147480056 SPINK5 A>C	5	147480056	147480056	A	C	SPINK5	c.1132A>C	NM_001127698.1	NP_001121170.1:p.(Lys378Gln)	NC_000005.9:g.147480056A>C	(Likely) benign	2 labs	36701a78e9
11:108196143 ATM C>T	11	108196143	108196143	C	T	ATM	c.6679C>T	NM_001351834.2	NP_001338763.1:p.(Arg2227Cys)	NC_000011.9:g.108196143C>T	(Likely) pathogenic	3 labs	36857906e1
6:129637268 LAMA2 A>G	6	129637268	129637268	A	G	LAMA2	c.4010A>G	NM_000426.4	NP_000417.3:p.(His1337Arg)	NC_000006.11:g.129637268A>G	VUS	2 labs	368b213311
5:73188022 ARHGEF28 A>G	5	73188022	73188022	A	G	ARHGEF28	c.3533A>G	NM_001080479.2	NP_001073948.2:p.(Asn1178Ser)	NC_000005.9:g.73188022A>G	(Likely) benign	2 labs	368b5b4f3a
10:21120521 NEBL A>C	10	21120521	21120521	A	C	NEBL	c.1450-9T>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21120521A>C	(Likely) benign	2 labs	368cb05899
16:70293028 AARS1 C>T	16	70293028	70293028	C	T	AARS1	c.1847G>A	NM_001605.2	NP_001596.2:p.(Arg616His)	NC_000016.9:g.70293028C>T	VUS	2 labs	368d460714
X:130420415 IGSF1 T>C	X	130420415	130420415	T	C	IGSF1	c.93A>G	NM_001170961.2	NP_001164432.1:p.(Ser31=)	NC_000023.10:g.130420415T>C	(Likely) benign	2 labs	ead7d5d4e7
11:65321328 LTBP3 G>T	11	65321328	65321328	G	T	LTBP3	c.708C>A	NM_001130144.2	NP_001123616.1:p.(Pro236=)	NC_000011.9:g.65321328G>T	VUS	2 labs	369055b760
19:13563767 CACNA1A G>A	19	13563767	13563767	G	A	CACNA1A	c.462C>T	NM_023035.2	NP_075461.2:p.(Ala154=)	NC_000019.9:g.13563767G>A	(Likely) benign	2 labs	3691082a0d
1:3753207 CEP104 T>C	1	3753207	3753207	T	C	CEP104	c.1169A>G	NM_014704.3	NP_055519.1:p.(His390Arg)	NC_000001.10:g.3753207T>C	(Likely) benign	2 labs	3694572331
16:50756571 NOD2 C>A	16	50756571	50756571	C	A	NOD2	c.2753C>A	NM_022162.3	NP_071445.1:p.(Ala918Asp)	NC_000016.9:g.50756571C>A	(Likely) benign	3 labs	369b4b03a5
6:33635566 ITPR3 C>A	6	33635566	33635566	C	A	ITPR3	c.1714-3C>A	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33635566C>A	VUS	2 labs	36a20b78a4
2:31606625 XDH G>A	2	31606625	31606625	G	A	XDH	c.882C>T	NM_000379.3	NP_000370.2:p.(Pro294=)	NC_000002.11:g.31606625G>A	(Likely) benign	2 labs	36a818f4f5
19:18184317 IL12RB1 G>A	19	18184317	18184317	G	A	IL12RB1	c.783+10C>T	NM_005535.1	NP_005526.1:p.?	NC_000019.9:g.18184317G>A	(Likely) benign	2 labs	36a9ea11db
19:55670651 DNAAF3 C>T	19	55670651	55670651	C	T	DNAAF3	c.1606G>A	NM_001256714.1	NP_001243643.1:p.(Val536Met)	NC_000019.9:g.55670651C>T	(Likely) benign	2 labs	36bef1a437
11:111779506 CRYAB G>A	11	111779506	111779506	G	A	CRYAB	c.510C>T	NM_001885.3	NP_001876.1:p.(Thr170=)	NC_000011.9:g.111779506G>A	(Likely) benign	2 labs	36c33a4829
11:108098555 ATM A>G	11	108098555	108098555	A	G	ATM	c.125A>G	NM_001351834.1	NP_001338763.1:p.(His42Arg)	NC_000011.9:g.108098555A>G	(Likely) benign	2 labs	36cd4ba72e
X:107422636 COL4A6 G>A	X	107422636	107422636	G	A	COL4A6	c.2215C>T	NM_001287758.1	NP_001274687.1:p.(Pro739Ser)	NC_000023.10:g.107422636G>A	VUS	2 labs	36ce5e3c66
8:145699948 FOXH1 G>A	8	145699948	145699948	G	A	FOXH1	c.771C>T	NM_003923.2	NP_003914.1:p.(Gly257=)	NC_000008.10:g.145699948G>A	(Likely) benign	2 labs	36d216e80d
16:1573810 IFT140 A>G	16	1573810	1573810	A	G	IFT140	c.3270+19T>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1573810A>G	(Likely) benign	2 labs	36dc9b0327
14:21770730 RPGRIP1 A>G	14	21770730	21770730	A	G	RPGRIP1	c.574A>G	NM_020366.4	NP_065099.3:p.(Lys192Glu)	NC_000014.8:g.21770730A>G	(Likely) benign	3 labs	36ea5226f0
1:40546065 PPT1 T>C	1	40546065	40546065	T	C	PPT1	c.627+4A>G	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40546065T>C	(Likely) benign	3 labs	36eb3cd192
1:19566858 EMC1 G>A	1	19566858	19566858	G	A	EMC1	c.719C>T	NM_015047.3	NP_055862.1:p.(Pro240Leu)	NC_000001.10:g.19566858G>A	(Likely) benign	2 labs	36e35b44db
8:133909949 TG C>T	8	133909949	133909949	C	T	TG	c.3057C>T	NM_003235.5	NP_003226.4:p.(Ser1019=)	NC_000008.10:g.133909949C>T	(Likely) benign	2 labs	36e40e1a96
14:23858709 MYH6 G>A	14	23858709	23858709	G	A	MYH6	c.3871C>T	NM_002471.4	NP_002462.2:p.(Arg1291Trp)	NC_000014.8:g.23858709G>A	VUS	2 labs	36fb1b640e
3:93714763 ARL13B C>T	3	93714763	93714763	C	T	ARL13B	c.105C>T	NM_182896.2	NP_878899.1:p.(Thr35=)	NC_000003.11:g.93714763C>T	(Likely) benign	2 labs	36fb5ae645
11:33738935 CD59 C>T	11	33738935	33738935	C	T	CD59	c.150G>A	NM_001127223.1	NP_001120695.1:p.(Ala50=)	NC_000011.9:g.33738935C>T	(Likely) benign	2 labs	36fc3979e2
10:73490352 CDH23 C>T	10	73490352	73490352	C	T	CDH23	c.3706C>T	NM_022124.5	NP_071407.4:p.(Arg1236Ter)	NC_000010.10:g.73490352C>T	(Likely) pathogenic	2 labs	37007ee252
17:40370786 STAT5B T>G	17	40370786	40370786	T	G	STAT5B	c.944A>C	NM_012448.3	NP_036580.2:p.(Glu315Ala)	NC_000017.10:g.40370786T>G	(Likely) benign	3 labs	3704e02f04
2:47703500 MSH2 T>C	2	47703500	47703500	T	C	MSH2	c.2006-6T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703500T>C	(Likely) benign	4 labs	37066bca88
19:41928652 BCKDHA C>T	19	41928652	41928652	C	T	BCKDHA	c.972C>T	NM_000709.4	NP_000700.1:p.(Phe324=)	NC_000019.9:g.41928652C>T	(Likely) benign	2 labs	eae83b38fb
22:27026324 CRYBA4 C>T	22	27026324	27026324	C	T	CRYBA4	c.464C>T	NM_001886.2	NP_001877.1:p.(Pro155Leu)	NC_000022.10:g.27026324C>T	VUS	2 labs	370e02ea0d
X:110978306 ALG13 A>G	X	110978306	110978306	A	G	ALG13	c.2251A>G	NM_001257231.1	NP_001244160.1:p.(Met751Val)	NC_000023.10:g.110978306A>G	(Likely) benign	2 labs	3710049539
X:153296856 MECP2 G>C	X	153296856	153296856	G	C	MECP2	c.423C>G	NM_004992.3	NP_004983.1:p.(Tyr141Ter)	NC_000023.10:g.153296856G>C	(Likely) pathogenic	2 labs	3712bd96c0
5:73090261 ARHGEF28 T>C	5	73090261	73090261	T	C	ARHGEF28	c.945T>C	NM_001080479.3	NP_001073948.2:p.(Ala315=)	NC_000005.9:g.73090261T>C	(Likely) benign	2 labs	3714bfab54
17:78081615 GAA A>G	17	78081615	78081615	A	G	GAA	c.875A>G	NM_000152.3	NP_000143.2:p.(Tyr292Cys)	NC_000017.10:g.78081615A>G	(Likely) pathogenic	2 labs	372129e046
16:2104389 TSC2 C>G	16	2104389	2104389	C	G	TSC2	c.429C>G	NM_000548.5	NP_000539.2:p.(Phe143Leu)	NC_000016.9:g.2104389C>G	(Likely) benign	2 labs	372545dc52
2:238296716 COL6A3 A>T	2	238296716	238296716	A	T	COL6A3	c.821T>A	NM_004369.3	NP_004360.2:p.(Ile274Asn)	NC_000002.11:g.238296716A>T	VUS	2 labs	3725afe6cc
6:51484077 PKHD1 G>C	6	51484077	51484077	G	C	PKHD1	c.12027C>G	NM_138694.3	NP_619639.3:p.(Tyr4009Ter)	NC_000006.11:g.51484077G>C	VUS	2 labs	372d545225
1:47882690 FOXE3 C>T	1	47882690	47882690	C	T	FOXE3	c.703C>T	NM_012186.2	NP_036318.1:p.(Pro235Ser)	NC_000001.10:g.47882690C>T	(Likely) benign	2 labs	37322f5aa7
1:10363262 KIF1B G>A	1	10363262	10363262	G	A	KIF1B	c.2019G>A	NM_183416.4	NP_904325.2:p.(Ser673=)	NC_000001.10:g.10363262G>A	(Likely) benign	2 labs	373ba09861
16:84208335 DNAAF1 G>T	16	84208335	84208335	G	T	DNAAF1	c.1698+7G>T	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84208335G>T	(Likely) benign	2 labs	374cc69a9a
13:32950931 BRCA2 G>C	13	32950931	32950931	G	C	BRCA2	c.8754+3G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950931G>C	(Likely) pathogenic	6 labs	eb03a215ab
X:153581752 FLNA C>T	X	153581752	153581752	C	T	FLNA	c.5934G>A	NM_001110556.2	NP_001104026.1:p.(Thr1978=)	NC_000023.10:g.153581752C>T	(Likely) benign	3 labs	3763342d8f
7:158664234 DYNC2I1 G>A	7	158664234	158664234	G	A	DYNC2I1	c.471G>A	NM_018051.4	NP_060521.4:p.(Ala157=)	NC_000007.13:g.158664234G>A	(Likely) benign	2 labs	3766eea9e1
8:48872645 PRKDC C>T	8	48872645	48872645	C	T	PRKDC	c.42G>A	NM_006904.6	NP_008835.5:p.(Arg14=)	NC_000008.10:g.48872645C>T	(Likely) benign	2 labs	376b3a9a74
1:201038687 CACNA1S A>G	1	201038687	201038687	A	G	CACNA1S	c.2403T>C	NM_000069.3	NP_000060.2:p.(Phe801=)	NC_000001.10:g.201038687A>G	(Likely) benign	2 labs	eb0e2eef8f
8:68334782 CPA6 G>A	8	68334782	68334782	G	A	CPA6	c.1271C>T	NM_020361.5	NP_065094.3:p.(Ala424Val)	NC_000008.10:g.68334782G>A	VUS	2 labs	eb0f13e4b6
2:179629363 TTN T>C	2	179629363	179629363	T	C	TTN	c.9879A>G	NM_001267550.2	NP_001254479.2:p.(Glu3293=)	NC_000002.11:g.179629363T>C	(Likely) benign	4 labs	eb0f3b8b14
10:16981015 CUBN T>C	10	16981015	16981015	T	C	CUBN	c.5680A>G	NM_001081.3	NP_001072.2:p.(Ile1894Val)	NC_000010.10:g.16981015T>C	(Likely) benign	2 labs	3772c596c8
3:128204951 GATA2 C>T	3	128204951	128204951	C	T	GATA2	c.490G>A	NM_001145661.1	NP_001139133.1:p.(Ala164Thr)	NC_000003.11:g.128204951C>T	(Likely) benign	3 labs	3773afc7cd
6:152668272 SYNE1 C>T	6	152668272	152668272	C	T	SYNE1	c.12000G>A	NM_182961.4	NP_892006.3:p.(Ala4000=)	NC_000006.11:g.152668272C>T	(Likely) benign	2 labs	376f083c28
X:153296045 MECP2 C>T	X	153296045	153296045	C	T	MECP2	c.1234G>A	NM_004992.3	NP_004983.1:p.(Val412Ile)	NC_000023.10:g.153296045C>T	(Likely) benign	2 labs	377880fd27
4:120079159 MYOZ2 A>G	4	120079159	120079159	A	G	MYOZ2	c.247-18A>G	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120079159A>G	(Likely) benign	5 labs	eb12e78635
X:149638771 MAMLD1 C>T	X	149638771	149638771	C	T	MAMLD1	c.926C>T	NM_005491.4	NP_005482.2:p.(Ala309Val)	NC_000023.10:g.149638771C>T	(Likely) benign	2 labs	3794d51d26
11:66472745 SPTBN2 C>T	11	66472745	66472745	C	T	SPTBN2	c.2002G>A	NM_006946.3	NP_008877.1:p.(Asp668Asn)	NC_000011.9:g.66472745C>T	VUS	2 labs	379fe58cee
18:34156512 FHOD3 AG>A	18	34156512	34156516	AG	A	FHOD3	c.606+8del	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34156516del	(Likely) benign	4 labs	37a86720b3
15:48720623 FBN1 C>T	15	48720623	48720623	C	T	FBN1	c.6917G>A	NM_000138.4	NP_000129.3:p.(Arg2306His)	NC_000015.9:g.48720623C>T	VUS	2 labs	37af375efc
2:179517230 TTN C>T	2	179517230	179517230	C	T	TTN	c.39082G>A	NM_001267550.2	NP_001254479.2:p.(Val13028Met)	NC_000002.11:g.179517230C>T	(Likely) benign	5 labs	eb1ee4a13b
1:11205058 MTOR C>T	1	11205058	11205058	C	T	MTOR	c.4731G>A	NM_004958.4	NP_004949.1:p.(Ala1577=)	NC_000001.10:g.11205058C>T	(Likely) benign	2 labs	37b033103f
17:41256151 BRCA1 T>G	17	41256151	41256151	T	G	BRCA1	c.429A>C	NM_007294.3	NP_009225.1:p.(Glu143Asp)	NC_000017.10:g.41256151T>G	(Likely) benign	2 labs	37be267b76
8:144995949 PLEC G>A	8	144995949	144995949	G	A	PLEC	c.8451C>T	NM_201380.3	NP_958782.1:p.(Asp2817=)	NC_000008.10:g.144995949G>A	(Likely) benign	2 labs	37be75a9a9
3:4842231 ITPR1 C>T	3	4842231	4842231	C	T	ITPR1	c.7009C>T	NM_001168272.2	NP_001161744.1:p.(Leu2337=)	NC_000003.11:g.4842231C>T	(Likely) benign	2 labs	37d189ef45
2:228560665 SLC19A3 G>A	2	228560665	228560665	G	A	SLC19A3	c.1112C>T	NM_025243.3	NP_079519.1:p.(Ala371Val)	NC_000002.11:g.228560665G>A	(Likely) benign	2 labs	37cf733f3c
11:134018656 JAM3 T>C	11	134018656	134018656	T	C	JAM3	c.843-3T>C	NM_032801.5	NP_116190.3:p.?	NC_000011.9:g.134018656T>C	(Likely) benign	2 labs	37d1ff7713
5:13719022 DNAH5 T>G	5	13719022	13719022	T	G	DNAH5	c.12468A>C	NM_001369.3	NP_001360.1:p.(Gly4156=)	NC_000005.9:g.13719022T>G	(Likely) benign	2 labs	37d30646ec
19:12777468 MAN2B1 C>T	19	12777468	12777468	C	T	MAN2B1	c.48G>A	NM_000528.3	NP_000519.2:p.(Leu16=)	NC_000019.9:g.12777468C>T	(Likely) benign	2 labs	37d3860dfb
18:47432860 MYO5B C>G	18	47432860	47432860	C	G	MYO5B	c.2343G>C	NM_001080467.2	NP_001073936.1:p.(Lys781Asn)	NC_000018.9:g.47432860C>G	(Likely) benign	2 labs	37dea96ba5
14:77746176 POMT2 C>T	14	77746176	77746176	C	T	POMT2	c.1881G>A	NM_013382.7	NP_037514.2:p.(Ala627=)	NC_000014.8:g.77746176C>T	(Likely) benign	2 labs	37d4f6f12a
17:41244569 BRCA1 T>C	17	41244569	41244569	T	C	BRCA1	c.2979A>G	NM_007294.4	NP_009225.1:p.(Lys993=)	NC_000017.10:g.41244569T>C	(Likely) benign	2 labs	37df0786fa
14:24709275 TINF2 C>T	14	24709275	24709275	C	T	TINF2	c.1216G>A	NM_001099274.3	NP_001092744.1:p.(Gly406Arg)	NC_000014.8:g.24709275C>T	VUS	2 labs	37e46e0479
X:53966879 PHF8 C>T	X	53966879	53966879	C	T	PHF8	c.2720G>A	NM_015107.3	NP_055922.1:p.(Arg907His)	NC_000023.10:g.53966879C>T	(Likely) benign	3 labs	37e9298710
2:44513213 SLC3A1 C>T	2	44513213	44513213	C	T	SLC3A1	c.808C>T	NM_000341.3	NP_000332.2:p.(Arg270Ter)	NC_000002.11:g.44513213C>T	(Likely) pathogenic	2 labs	37ec070eb3
X:153227760 HCFC1 G>A	X	153227760	153227760	G	A	HCFC1	c.713-3C>T	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153227760G>A	(Likely) benign	2 labs	37f1dc478a
14:105410443 AHNAK2 C>A	14	105410443	105410443	C	A	AHNAK2	c.11345G>T	NM_138420.4	NP_612429.2:p.(Ser3782Ile)	NC_000014.8:g.105410443C>A	(Likely) benign	2 labs	37f6fe1b80
X:65417719 HEPH G>A	X	65417719	65417719	G	A	HEPH	c.1858G>A	NM_138737.4	NP_620074.3:p.(Gly620Ser)	NC_000023.10:g.65417719G>A	(Likely) benign	2 labs	37f1a725bf
3:154859855 MME G>A	3	154859855	154859855	G	A	MME	c.1033G>A	NM_007289.4	NP_009220.2:p.(Val345Ile)	NC_000003.11:g.154859855G>A	(Likely) benign	2 labs	37ee3df53b
15:28419606 HERC2 G>A	15	28419606	28419606	G	A	HERC2	c.9992C>T	NM_004667.6	NP_004658.3:p.(Thr3331Met)	NC_000015.9:g.28419606G>A	VUS	3 labs	37fb01586d
7:101892102 CUX1 C>G	7	101892102	101892102	C	G	CUX1	c.4331C>G	NM_001202543.1	NP_001189472.1:p.(Ala1444Gly)	NC_000007.13:g.101892102C>G	(Likely) benign	2 labs	37fc2ad2f4
9:140972575 CACNA1B G>A	9	140972575	140972575	G	A	CACNA1B	c.4959G>A	NM_000718.4	NP_000709.1:p.(Thr1653=)	NC_000009.11:g.140972575G>A	(Likely) benign	2 labs	380be3910b
18:43492273 EPG5 C>T	18	43492273	43492273	C	T	EPG5	c.3965G>A	NM_020964.3	NP_066015.2:p.(Arg1322His)	NC_000018.9:g.43492273C>T	VUS	2 labs	380f561844
9:131482234 PKN3 G>A	9	131482234	131482234	G	A	PKN3	c.2314G>A	NM_013355.5	NP_037487.2:p.(Val772Ile)	NC_000009.11:g.131482234G>A	VUS	2 labs	3812d7168b
9:130422301 STXBP1 A>G	9	130422301	130422301	A	G	STXBP1	c.247-8A>G	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130422301A>G	(Likely) benign	3 labs	381733da9d
17:38975103 KRT10 A>AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	17	38975103	38975147	A	AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	KRT10	c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC	NM_000421.5	NP_000412.4:p.(Gly565_His566insGlyTyrGlyGlyGlySerSerSerGlyGlyGlyTyrGlyGlyGlySerSerSerGlyGlyGlyTyrGlyGlyGlySerSerSerGlyGly)	NC_000017.10:g.38975146_38975147insTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCG	(Likely) benign	2 labs	eb272cdf2e
5:254599 SDHA A>T	5	254599	254599	A	T	SDHA	c.1886A>T	NM_004168.4	NP_004159.2:p.(Tyr629Phe)	NC_000005.9:g.254599A>T	(Likely) benign	2 labs	eb2dc2a9cb
13:32912337 BRCA2 C>T	13	32912337	32912337	C	T	BRCA2	c.3845C>T	NM_000059.3	NP_000050.2:p.(Thr1282Ile)	NC_000013.10:g.32912337C>T	(Likely) benign	2 labs	38383b8aab
1:109465070 GPSM2 G>C	1	109465070	109465070	G	C	GPSM2	c.1472G>C	NM_013296.5	NP_037428.3:p.(Gly491Ala)	NC_000001.10:g.109465070G>C	VUS	2 labs	38405a6ffa
22:24167513 SMARCB1 G>A	22	24167513	24167513	G	A	SMARCB1	c.897G>A	NM_003073.3	NP_003064.2:p.(Ser299=)	NC_000022.10:g.24167513G>A	(Likely) benign	2 labs	3841220f3c
10:121429665 BAG3 G>A	10	121429665	121429665	G	A	BAG3	c.483G>A	NM_004281.4	NP_004272.2:p.(Gln161=)	NC_000010.10:g.121429665G>A	(Likely) benign	4 labs	eb3318f5e4
14:68249672 ZFYVE26 G>A	14	68249672	68249672	G	A	ZFYVE26	c.4197C>T	NM_015346.3	NP_056161.2:p.(Thr1399=)	NC_000014.8:g.68249672G>A	(Likely) benign	2 labs	384d18e17e
8:61749394 CHD7 C>T	8	61749394	61749394	C	T	CHD7				NC_000008.10:g.61749394C>T	(Likely) benign	2 labs	3856b07075
12:48375946 COL2A1 G>A	12	48375946	48375946	G	A	COL2A1	c.2302-3C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48375946G>A	(Likely) benign	2 labs	385d8b3780
X:153581561 FLNA C>T	X	153581561	153581561	C	T	FLNA	c.6034G>A	NM_001110556.2	NP_001104026.1:p.(Val2012Met)	NC_000023.10:g.153581561C>T	VUS	2 labs	38617eaae8
16:23546561 EARS2 G>C	16	23546561	23546561	G	C	EARS2	c.606C>G	NM_001083614.2	NP_001077083.1:p.(Val202=)	NC_000016.9:g.23546561G>C	(Likely) benign	2 labs	eb39d88204
8:94793190 TMEM67 A>T	8	94793190	94793190	A	T	TMEM67	c.958A>T	NM_153704.5	NP_714915.3:p.(Ser320Cys)	NC_000008.10:g.94793190A>T	VUS	3 labs	38662b8b9d
15:85360252 ALPK3 C>G	15	85360252	85360252	C	G	ALPK3				NC_000015.9:g.85360252C>G	(Likely) benign	4 labs	386a3bec0e
11:2189817 TH A>C	11	2189817	2189817	A	C	TH	c.484T>G	NM_199292.3	NP_954986.2:p.(Phe162Val)	NC_000011.9:g.2189817A>C	VUS	2 labs	3874176ee2
1:39951304 MACF1 T>G	1	39951304	39951304	T	G	MACF1	c.16131T>G	NM_012090.5	NP_036222.3:p.(Phe5377Leu)	NC_000001.10:g.39951304T>G	(Likely) benign	2 labs	3879d07970
2:179592577 TTN G>A	2	179592577	179592577	G	A	TTN	c.19728C>T	NM_001267550.1	NP_001254479.1:p.(Phe6576=)	NC_000002.11:g.179592577G>A	(Likely) benign	2 labs	387c9309bb
16:2098774 TSC2 C>G	16	2098774	2098774	C	G	TSC2	c.138+20C>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2098774C>G	(Likely) benign	2 labs	38827e8634
13:32914940 BRCA2 A>C	13	32914940	32914940	A	C	BRCA2	c.6448A>C	NM_000059.3	NP_000050.2:p.(Lys2150Gln)	NC_000013.10:g.32914940A>C	(Likely) benign	2 labs	38838fc7b8
X:32591752 DMD G>A	X	32591752	32591752	G	A	DMD	c.1707C>T	NM_004006.3	NP_003997.2:p.(Cys569=)	NC_000023.10:g.32591752G>A	(Likely) benign	2 labs	eb4280bf74
2:50724817 NRXN1 G>A	2	50724817	50724817	G	A	NRXN1	c.2653C>T	NM_001135659.3	NP_001129131.1:p.(His885Tyr)	NC_000002.11:g.50724817G>A	VUS	2 labs	eb43260c69
13:20763710 GJB2 C>T	13	20763710	20763710	C	T	GJB2	c.11G>A	NM_004004.6	NP_003995.2:p.(Gly4Asp)	NC_000013.10:g.20763710C>T	(Likely) benign	3 labs	388cfaeb4c
14:73683855 PSEN1 G>C	14	73683855	73683855	G	C	PSEN1	c.1151G>C	NM_000021.3	NP_000012.1:p.(Gly384Ala)	NC_000014.8:g.73683855G>C	(Likely) pathogenic	2 labs	38896a2bfb
22:19956262 COMT G>GC	22	19956262	19956269	G	GC	COMT	c.*10dup	NM_000754.4	NP_000745.1:p.?	NC_000022.10:g.19956269dup	(Likely) benign	2 labs	388cfd696b
7:103126694 RELN G>A	7	103126694	103126694	G	A	RELN	c.9933C>T	NM_005045.3	NP_005036.2:p.(Gly3311=)	NC_000007.13:g.103126694G>A	(Likely) benign	2 labs	388b8a3289
7:117267665 CFTR A>G	7	117267665	117267665	A	G	CFTR	c.3558A>G	NM_000492.3	NP_000483.3:p.(Gln1186=)	NC_000007.13:g.117267665A>G	(Likely) benign	2 labs	388c5cc4dd
X:128678967 OCRL A>G	X	128678967	128678967	A	G	OCRL	c.152A>G	NM_000276.3	NP_000267.2:p.(His51Arg)	NC_000023.10:g.128678967A>G	(Likely) benign	2 labs	389052f7a9
10:102783745 PDZD7 C>G	10	102783745	102783745	C	G	PDZD7	c.307G>C	NM_001195263.1	NP_001182192.1:p.(Gly103Arg)	NC_000010.10:g.102783745C>G	(Likely) pathogenic	2 labs	38946c466f
11:45957234 PHF21A G>A	11	45957234	45957234	G	A	PHF21A	c.1738C>T	NM_001101802.3	NP_001095272.1:p.(Arg580Ter)	NC_000011.9:g.45957234G>A	(Likely) pathogenic	2 labs	38a119a95c
17:61574675 ACE G>A	17	61574675	61574675	G	A	ACE	c.3869G>A	NM_000789.3	NP_000780.1:p.(Arg1290Gln)	NC_000017.10:g.61574675G>A	(Likely) benign	2 labs	38a24c1fe4
1:247608105 NLRP3 G>C	1	247608105	247608105	G	C	NLRP3	c.2987G>C	NM_001243133.1	NP_001230062.1:p.(Cys996Ser)	NC_000001.10:g.247608105G>C	VUS	2 labs	38a54dd955
2:179566240 TTN G>A	2	179566240	179566240	G	A	TTN	c.30598+15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566240G>A	(Likely) benign	2 labs	38a4a04c2f
13:31843415 B3GLCT G>A	13	31843415	31843415	G	A	B3GLCT	c.660+1G>A	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31843415G>A	(Likely) pathogenic	5 labs	38adb1fb9f
11:76892617 MYO7A G>C	11	76892617	76892617	G	C	MYO7A	c.2886G>C	NM_000260.4	NP_000251.3:p.(Gln962His)	NC_000011.9:g.76892617G>C	VUS	2 labs	38aa4d4e50
12:111356965 MYL2 G>A	12	111356965	111356965	G	A	MYL2	c.36C>T	NM_000432.4	NP_000423.2:p.(Gly12=)	NC_000012.11:g.111356965G>A	(Likely) benign	3 labs	38bfe7f802
11:22279241 ANO5 A>T	11	22279241	22279241	A	T	ANO5	c.1348A>T	NM_213599.3	NP_998764.1:p.(Met450Leu)	NC_000011.9:g.22279241A>T	(Likely) benign	2 labs	eb4731d01a
X:129159021 BCORL1 G>A	X	129159021	129159021	G	A	BCORL1	c.3745G>A	NM_001184772.2	NP_001171701.1:p.(Val1249Ile)	NC_000023.10:g.129159021G>A	VUS	2 labs	38d730325f
19:3976699 EEF2 G>A	19	3976699	3976699	G	A	EEF2	c.2430C>T	NM_001961.3	NP_001952.1:p.(Pro810=)	NC_000019.9:g.3976699G>A	(Likely) benign	2 labs	38dc6c9178
5:131925413 RAD50 A>G	5	131925413	131925413	A	G	RAD50	c.1336A>G	NM_005732.3	NP_005723.2:p.(Lys446Glu)	NC_000005.9:g.131925413A>G	VUS	2 labs	38dfaa8afb
14:68250147 ZFYVE26 C>T	14	68250147	68250147	C	T	ZFYVE26	c.3722G>A	NM_015346.3	NP_056161.2:p.(Arg1241Gln)	NC_000014.8:g.68250147C>T	(Likely) benign	4 labs	38e11cba82
2:179456138 TTN A>C	2	179456138	179456138	A	C	TTN	c.60314T>G	NM_001267550.2	NP_001254479.2:p.(Val20105Gly)	NC_000002.11:g.179456138A>C	VUS	5 labs	38eadfed80
8:102649139 GRHL2 G>A	8	102649139	102649139	G	A	GRHL2	c.1452G>A	NM_001330593.1	NP_001317522.1:p.(Thr484=)	NC_000008.10:g.102649139G>A	(Likely) benign	2 labs	39009ae767
5:73144845 ARHGEF28 A>G	5	73144845	73144845	A	G	ARHGEF28	c.1680A>G	NM_001080479.3	NP_001073948.2:p.(Ser560=)	NC_000005.9:g.73144845A>G	(Likely) benign	2 labs	38f289e76b
9:6604591 GLDC G>C	9	6604591	6604591	G	C	GLDC	c.1055C>G	NM_000170.3	NP_000161.2:p.(Thr352Arg)	NC_000009.11:g.6604591G>C	(Likely) pathogenic	3 labs	3905cb5793
1:5935086 NPHP4 G>A	1	5935086	5935086	G	A	NPHP4	c.2892C>T	NM_015102.4	NP_055917.1:p.(Ala964=)	NC_000001.10:g.5935086G>A	(Likely) benign	2 labs	390ad338af
11:108127065 ATM A>G	11	108127065	108127065	A	G	ATM	c.2248A>G	NM_000051.4	NP_000042.3:p.(Lys750Glu)	NC_000011.9:g.108127065A>G	VUS	3 labs	390f31529e
16:50746228 NOD2 G>T	16	50746228	50746228	G	T	NOD2	c.2406G>T	NM_022162.1	NP_071445.1:p.(Val802=)	NC_000016.9:g.50746228G>T	(Likely) benign	2 labs	391222b72b
5:127607792 FBN2 C>T	5	127607792	127607792	C	T	FBN2	c.7859G>A	NM_001999.4	NP_001990.2:p.(Gly2620Glu)	NC_000005.9:g.127607792C>T	VUS	3 labs	391ea67fd5
16:51175658 SALL1 T>C	16	51175658	51175658	T	C	SALL1	c.475A>G	NM_002968.2	NP_002959.2:p.(Ser159Gly)	NC_000016.9:g.51175658T>C	(Likely) benign	2 labs	391eb5fc51
2:179509345 TTN T>G	2	179509345	179509345	T	G	TTN	c.40409-2A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179509345T>G	VUS	2 labs	eb54087ac8
11:108127055 ATM C>T	11	108127055	108127055	C	T	ATM	c.2238C>T	NM_000051.3	NP_000042.3:p.(Phe746=)	NC_000011.9:g.108127055C>T	(Likely) benign	2 labs	392069bbae
2:63667007 WDPCP TA>T	2	63667007	63667011	TA	T	WDPCP	c.385-3del	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63667011del	(Likely) benign	2 labs	392b7e8786
17:79478287 ACTG1 G>A	17	79478287	79478287	G	A	ACTG1	c.729C>T	NM_001199954.2	NP_001186883.1:p.(Pro243=)	NC_000017.10:g.79478287G>A	(Likely) benign	2 labs	392df802d1
1:120459251 NOTCH2 G>T	1	120459251	120459251	G	T	NOTCH2	c.6094C>A	NM_024408.4	NP_077719.2:p.(His2032Asn)	NC_000001.10:g.120459251G>T	(Likely) benign	4 labs	eb56bf2488
22:36684352 MYH9 G>A	22	36684352	36684352	G	A	MYH9	c.4878C>T	NM_002473.5	NP_002464.1:p.(Ile1626=)	NC_000022.10:g.36684352G>A	(Likely) benign	2 labs	393892478a
4:10027570 SLC2A9 G>A	4	10027570	10027570	G	A	SLC2A9	c.21C>T	NM_001001290.1	NP_001001290.1:p.(Asp7=)	NC_000004.11:g.10027570G>A	(Likely) benign	2 labs	393fa51977
20:31025008 ASXL1 C>T	20	31025008	31025008	C	T	ASXL1	c.4493C>T	NM_015338.5	NP_056153.2:p.(Thr1498Met)	NC_000020.10:g.31025008C>T	(Likely) benign	2 labs	3942e612f2
1:235907403 LYST C>A	1	235907403	235907403	C	A	LYST	c.8027G>T	NM_001301365.1	NP_001288294.1:p.(Ser2676Ile)	NC_000001.10:g.235907403C>A	VUS	2 labs	39477a6d62
2:179445284 TTN A>T	2	179445284	179445284	A	T	TTN	c.66822T>A	NM_001267550.1	NP_001254479.1:p.(Arg22274=)	NC_000002.11:g.179445284A>T	(Likely) benign	2 labs	3947c7a677
12:6103249 VWF A>G	12	6103249	6103249	A	G	VWF	c.6377T>C	NM_000552.3	NP_000543.2:p.(Ile2126Thr)	NC_000012.11:g.6103249A>G	(Likely) benign	3 labs	394f33fbc3
6:16327986 ATXN1 T>A	6	16327986	16327986	T	A	ATXN1	c.556A>T	NM_000332.3	NP_000323.2:p.(Ser186Cys)	NC_000006.11:g.16327986T>A	(Likely) benign	2 labs	394f7ffeea
X:100656751 GLA T>C	X	100656751	100656751	T	C	GLA	c.416A>G	NM_000169.3	NP_000160.1:p.(Asn139Ser)	NC_000023.10:g.100656751T>C	(Likely) benign	4 labs	eb5f517887
16:2141547 PKD1 C>T	16	2141547	2141547	C	T	PKD1	c.11589G>A	NM_001009944.2	NP_001009944.2:p.(Leu3863=)	NC_000016.9:g.2141547C>T	(Likely) benign	2 labs	39619f3cd7
19:16596048 CALR3 C>A	19	16596048	16596048	C	A	CALR3	c.418G>T	NM_145046.5	NP_659483.2:p.(Asp140Tyr)	NC_000019.9:g.16596048C>A	VUS	2 labs	eb60321325
2:198358123 HSPD1 T>C	2	198358123	198358123	T	C	HSPD1	c.794A>G	NM_002156.5	NP_002147.2:p.(Asn265Ser)	NC_000002.11:g.198358123T>C	VUS	2 labs	396a7220fb
11:72004653 CLPB G>A	11	72004653	72004653	G	A	CLPB	c.1882C>T	NM_030813.6	NP_110440.1:p.(Arg628Cys)	NC_000011.9:g.72004653G>A	VUS	3 labs	3972655d09
16:2124272 TSC2 C>T	16	2124272	2124272	C	T	TSC2	c.2427C>T	NM_000548.3	NP_000539.2:p.(Ser809=)	NC_000016.9:g.2124272C>T	(Likely) benign	3 labs	396c23e4fa
9:117186665 WHRN A>G	9	117186665	117186665	A	G	WHRN	c.1365T>C	NM_015404.4	NP_056219.3:p.(Ser455=)	NC_000009.11:g.117186665A>G	(Likely) benign	2 labs	396a5a06fc
1:31422976 PUM1 T>C	1	31422976	31422976	T	C	PUM1	c.2854A>G	NM_001020658.2	NP_001018494.1:p.(Ile952Val)	NC_000001.10:g.31422976T>C	(Likely) benign	2 labs	3973a5829a
X:132438764 GPC4 T>C	X	132438764	132438764	T	C	GPC4	c.1281A>G	NM_001448.2	NP_001439.2:p.(Lys427=)	NC_000023.10:g.132438764T>C	(Likely) benign	2 labs	397496436e
16:3656645 SLX4 A>G	16	3656645	3656645	A	G	SLX4	c.590T>C	NM_032444.2	NP_115820.2:p.(Val197Ala)	NC_000016.9:g.3656645A>G	(Likely) benign	2 labs	3975b6a6a6
2:179579220 TTN C>T	2	179579220	179579220	C	T	TTN	c.26281G>A	NM_001267550.1	NP_001254479.1:p.(Gly8761Ser)	NC_000002.11:g.179579220C>T	VUS	2 labs	39774c277e
1:1464605 ATAD3A G>A	1	1464605	1464605	G	A	ATAD3A	c.1508G>A	NM_001170535.3	NP_001164006.1:p.(Arg503His)	NC_000001.10:g.1464605G>A	VUS	2 labs	eb69d72521
14:23894201 MYH7 C>T	14	23894201	23894201	C	T	MYH7	c.2456G>A	NM_000257.4	NP_000248.2:p.(Arg819Gln)	NC_000014.8:g.23894201C>T	VUS	3 labs	eb6a1cacbe
6:132168996 ENPP1 G>GGT	6	132168996	132169034	G	GGT	ENPP1	c.313+45_313+46dup	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132169033_132169034dup	(Likely) benign	2 labs	399559e4ca
3:9969846 IL17RC C>T	3	9969846	9969846	C	T	IL17RC	c.1036-4C>T	NM_153461.3	NP_703191.1:p.?	NC_000003.11:g.9969846C>T	(Likely) benign	2 labs	399622eb25
16:89611153 SPG7 C>T	16	89611153	89611153	C	T	SPG7	c.1422C>T	NM_003119.4	NP_003110.1:p.(His474=)	NC_000016.9:g.89611153C>T	(Likely) benign	2 labs	eb6cf764e4
X:153588485 FLNA G>A	X	153588485	153588485	G	A	FLNA	c.3678C>T	NM_001110556.2	NP_001104026.1:p.(Pro1226=)	NC_000023.10:g.153588485G>A	(Likely) benign	2 labs	3997b59c9b
19:50370482 PNKP G>A	19	50370482	50370482	G	A	PNKP	c.-13-8C>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50370482G>A	(Likely) benign	2 labs	3997d199c9
5:147468146 SPINK5 G>A	5	147468146	147468146	G	A	SPINK5	c.452G>A	NM_001127698.1	NP_001121170.1:p.(Cys151Tyr)	NC_000005.9:g.147468146G>A	VUS	2 labs	399ba7aef7
19:16595983 CALR3 G>T	19	16595983	16595983	G	T	CALR3	c.483C>A	NM_145046.5	NP_659483.2:p.(Ile161=)	NC_000019.9:g.16595983G>T	(Likely) benign	4 labs	399f6cfd2c
16:50745873 NOD2 G>A	16	50745873	50745873	G	A	NOD2	c.2051G>A	NM_022162.1	NP_071445.1:p.(Arg684Gln)	NC_000016.9:g.50745873G>A	(Likely) benign	2 labs	39a6e6b7aa
7:21609691 DNAH11 C>T	7	21609691	21609691	C	T	DNAH11				NC_000007.13:g.21609691C>T	(Likely) benign	2 labs	39bf44072e
16:15931878 MYH11 T>C	16	15931878	15931878	T	C	MYH11	c.232A>G	NM_001040113.1	NP_001035202.1:p.(Lys78Glu)	NC_000016.9:g.15931878T>C	VUS	2 labs	39bfcd2b6c
7:128496898 FLNC G>A	7	128496898	128496898	G	A	FLNC	c.7484G>A	NM_001458.4	NP_001449.3:p.(Arg2495His)	NC_000007.13:g.128496898G>A	VUS	2 labs	39c28cb731
4:88977351 PKD2 G>A	4	88977351	88977351	G	A	PKD2	c.1830G>A	NM_000297.3	NP_000288.1:p.(Ala610=)	NC_000004.11:g.88977351G>A	(Likely) benign	2 labs	39e755b48d
20:43249762 ADA G>A	20	43249762	43249762	G	A	ADA	c.872C>T	NM_000022.2	NP_000013.2:p.(Ser291Leu)	NC_000020.10:g.43249762G>A	(Likely) pathogenic	2 labs	39eb415b91
5:149357747 SLC26A2 C>T	5	149357747	149357747	C	T	SLC26A2	c.532C>T	NM_000112.3	NP_000103.2:p.(Arg178Ter)	NC_000005.9:g.149357747C>T	(Likely) pathogenic	3 labs	39ec40b279
2:179604440 TTN A>G	2	179604440	179604440	A	G	TTN	c.13520T>C	NM_001267550.1	NP_001254479.1:p.(Met4507Thr)	NC_000002.11:g.179604440A>G	VUS	2 labs	39f02e1ec3
1:227076719 PSEN2 G>C	1	227076719	227076719	G	C	PSEN2	c.756G>C	NM_000447.3	NP_000438.2:p.(Ala252=)	NC_000001.10:g.227076719G>C	(Likely) benign	3 labs	eb848d9cb3
1:3342128 PRDM16 G>A	1	3342128	3342128	G	A	PRDM16	c.2940-17G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342128G>A	(Likely) benign	3 labs	39f14fff0b
6:33139475 COL11A2 T>G	6	33139475	33139475	T	G	COL11A2	c.3150+15A>C	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33139475T>G	(Likely) benign	4 labs	39f92c8a3c
15:49083444 CEP152 T>C	15	49083444	49083444	T	C	CEP152	c.962A>G	NM_001194998.1	NP_001181927.1:p.(Asn321Ser)	NC_000015.9:g.49083444T>C	VUS	2 labs	39fa0ae640
12:111350999 MYL2 G>T	12	111350999	111350999	G	T	MYL2	c.353+51C>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111350999G>T	(Likely) benign	2 labs	39fc59507e
X:49103192 CCDC22 G>A	X	49103192	49103192	G	A	CCDC22	c.715G>A	NM_014008.5	NP_054727.1:p.(Glu239Lys)	NC_000023.10:g.49103192G>A	(Likely) benign	2 labs	3a005cbe2f
22:37532400 IL2RB C>G	22	37532400	37532400	C	G	IL2RB	c.571G>C	NM_001346222.1	NP_001333151.1:p.(Glu191Gln)	NC_000022.10:g.37532400C>G	(Likely) benign	2 labs	39fce8293a
11:792726 SLC25A22 G>A	11	792726	792726	G	A	SLC25A22	c.414C>T	NM_001191060.1	NP_001177989.1:p.(Ala138=)	NC_000011.9:g.792726G>A	(Likely) benign	2 labs	3a00dd3a4d
18:67802484 RTTN C>G	18	67802484	67802484	C	G	RTTN	c.2821G>C	NM_173630.3	NP_775901.3:p.(Val941Leu)	NC_000018.9:g.67802484C>G	(Likely) benign	2 labs	3a01b3620a
6:101215223 ASCC3 TA>T	6	101215223	101215233	TA	T	ASCC3	c.1396-3del	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.101215233del	(Likely) benign	2 labs	3a0eaa8755
5:176722219 NSD1 T>C	5	176722219	176722219	T	C	NSD1	c.7850T>C	NM_022455.5	NP_071900.2:p.(Leu2617Ser)	NC_000005.9:g.176722219T>C	(Likely) benign	3 labs	3a085c63b4
X:149013665 MAGEA8 A>G	X	149013665	149013665	A	G	MAGEA8	c.619A>G	NM_001166400.1	NP_001159872.1:p.(Ile207Val)	NC_000023.10:g.149013665A>G	(Likely) benign	2 labs	3a1a4ddb9f
2:163174589 IFIH1 G>A	2	163174589	163174589	G	A	IFIH1	c.229C>T	NM_022168.4	NP_071451.2:p.(Arg77Trp)	NC_000002.11:g.163174589G>A	(Likely) benign	2 labs	3a1fcb9fbf
11:6630833 ILK G>A	11	6630833	6630833	G	A	ILK	c.819G>A	NM_004517.4	NP_004508.1:p.(Pro273=)	NC_000011.9:g.6630833G>A	(Likely) benign	2 labs	3a24cfdba0
15:73004608 BBS4 A>G	15	73004608	73004608	A	G	BBS4	c.180A>G	NM_033028.4	NP_149017.2:p.(Gln60=)	NC_000015.9:g.73004608A>G	(Likely) benign	2 labs	3a25232d3c
4:79351479 FRAS1 C>T	4	79351479	79351479	C	T	FRAS1	c.4877C>T	NM_025074.7	NP_079350.5:p.(Ala1626Val)	NC_000004.11:g.79351479C>T	(Likely) benign	2 labs	3a252cdeb8
22:20783651 SCARF2 AGGGGCGGGGCC>A	22	20783651	20783673	AGGGGCGGGGCC	A	SCARF2	c.1425-35_1425-25del	NM_182895.5	NP_878315.2:p.?	NC_000022.10:g.20783663_20783673del	(Likely) benign	2 labs	3a2ab39184
X:70514301 NONO C>T	X	70514301	70514301	C	T	NONO	c.573C>T	NM_001145408.2	NP_001138880.1:p.(Gly191=)	NC_000023.10:g.70514301C>T	(Likely) benign	2 labs	3a249857b5
4:647723 PDE6B G>A	4	647723	647723	G	A	PDE6B	c.794G>A	NM_000283.4	NP_000274.3:p.(Arg265Gln)	NC_000004.11:g.647723G>A	VUS	4 labs	3a2e7011fe
17:45008570 GOSR2 G>A	17	45008570	45008570	G	A	GOSR2	c.200G>A	NM_004287.4	NP_004278.2:p.(Arg67Lys)	NC_000017.10:g.45008570G>A	(Likely) benign	3 labs	3a2df5d6cb
17:73751778 ITGB4 C>G	17	73751778	73751778	C	G	ITGB4	c.4559-4C>G	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73751778C>G	(Likely) benign	2 labs	eb8e86e9a1
5:150901530 FAT2 C>G	5	150901530	150901530	C	G	FAT2	c.10624G>C	NM_001447.3	NP_001438.1:p.(Glu3542Gln)	NC_000005.9:g.150901530C>G	VUS	2 labs	3a375f9fbc
9:131094512 COQ4 G>C	9	131094512	131094512	G	C	COQ4	c.483G>C	NM_016035.4	NP_057119.2:p.(Glu161Asp)	NC_000009.11:g.131094512G>C	(Likely) benign	2 labs	3a44c61df7
12:103246653 PAH C>T	12	103246653	103246653	C	T	PAH	c.782G>A	NM_000277.3	NP_000268.1:p.(Arg261Gln)	NC_000012.11:g.103246653C>T	(Likely) pathogenic	4 labs	3a49c98a99
1:41300690 KCNQ4 G>A	1	41300690	41300690	G	A	KCNQ4	c.1665G>A	NM_004700.3	NP_004691.2:p.(Pro555=)	NC_000001.10:g.41300690G>A	(Likely) benign	2 labs	3a4c51f63f
16:88504868 ZNF469 A>G	16	88504868	88504868	A	G	ZNF469	c.10990=	NM_001367624.2	NP_001354553.1:p.(Ala3664=)	NC_000016.9:g.88504868A>G	(Likely) benign	3 labs	eb95a318af
19:6679444 C3 C>T	19	6679444	6679444	C	T	C3	c.4520G>A	NM_000064.2	NP_000055.2:p.(Arg1507His)	NC_000019.9:g.6679444C>T	(Likely) benign	2 labs	3a5462c881
12:2788624 CACNA1C G>A	12	2788624	2788624	G	A	CACNA1C	c.5250G>A	NM_199460.3	NP_955630.3:p.(Leu1750=)	NC_000012.11:g.2788624G>A	(Likely) benign	2 labs	3a5f217e2c
22:41565569 EP300 C>T	22	41565569	41565569	C	T	EP300	c.4235C>T	NM_001429.3	NP_001420.2:p.(Ala1412Val)	NC_000022.10:g.41565569C>T	VUS	2 labs	3a6192d210
18:19423155 MIB1 C>T	18	19423155	19423155	C	T	MIB1	c.2026C>T	NM_020774.4	NP_065825.1:p.(Arg676Ter)	NC_000018.9:g.19423155C>T	VUS	4 labs	eb98fd2dec
16:23614947 PALB2 A>G	16	23614947	23614947	A	G	PALB2	c.3394T>C	NM_024675.3	NP_078951.2:p.(Leu1132=)	NC_000016.9:g.23614947A>G	(Likely) benign	2 labs	3a67b6e6f9
16:56899183 SLC12A3 C>T	16	56899183	56899183	C	T	SLC12A3	c.36C>T	NM_000339.2	NP_000330.2:p.(Asp12=)	NC_000016.9:g.56899183C>T	(Likely) benign	3 labs	3a687f02fd
6:7559567 DSP C>G	6	7559567	7559567	C	G	DSP	c.531C>G	NM_004415.4	NP_004406.2:p.(Gly177=)	NC_000006.11:g.7559567C>G	(Likely) benign	2 labs	3a62245eb4
17:18046058 MYO15A A>C	17	18046058	18046058	A	C	MYO15A	c.5826-12A>C	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18046058A>C	(Likely) benign	3 labs	3a6e339eb3
X:153222829 HCFC1 G>A	X	153222829	153222829	G	A	HCFC1	c.2289C>T	NM_005334.2	NP_005325.2:p.(Pro763=)	NC_000023.10:g.153222829G>A	(Likely) benign	2 labs	3a73a58394
17:57109286 TRIM37 C>T	17	57109286	57109286	C	T	TRIM37	c.1919G>A	NM_015294.6	NP_056109.1:p.(Arg640His)	NC_000017.10:g.57109286C>T	VUS	2 labs	3a7a78166e
4:47939552 CNGA1 G>A	4	47939552	47939552	G	A	CNGA1	c.947C>T	NM_000087.5	NP_000078.3:p.(Ser316Phe)	NC_000004.11:g.47939552G>A	(Likely) pathogenic	4 labs	eb9942dab6
6:152653037 SYNE1 T>C	6	152653037	152653037	T	C	SYNE1	c.12795-12A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152653037T>C	(Likely) benign	3 labs	3a87678808
17:73738518 ITGB4 C>T	17	73738518	73738518	C	T	ITGB4	c.2730C>T	NM_000213.4	NP_000204.3:p.(Ala910=)	NC_000017.10:g.73738518C>T	(Likely) benign	2 labs	3a8d37cec8
21:47406935 COL6A1 C>T	21	47406935	47406935	C	T	COL6A1	c.666C>T	NM_001848.2	NP_001839.2:p.(Arg222=)	NC_000021.8:g.47406935C>T	(Likely) benign	2 labs	3a91ab9658
19:42485987 ATP1A3 G>C	19	42485987	42485987	G	C	ATP1A3	c.1232-4C>G	NM_001256214.2	NP_001243143.1:p.?	NC_000019.9:g.42485987G>C	(Likely) benign	3 labs	3a99808222
1:235933450 LYST T>C	1	235933450	235933450	T	C	LYST	c.5922+10A>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235933450T>C	(Likely) benign	2 labs	3aa160086d
4:169819835 PALLD A>G	4	169819835	169819835	A	G	PALLD	c.2442A>G	NM_001166108.2	NP_001159580.1:p.(Thr814=)	NC_000004.11:g.169819835A>G	(Likely) benign	2 labs	3aa6cdc0dd
12:6443282 TNFRSF1A C>T	12	6443282	6443282	C	T	TNFRSF1A	c.168G>A	NM_001065.3	NP_001056.1:p.(Ser56=)	NC_000012.11:g.6443282C>T	(Likely) benign	2 labs	3aa7e4532a
1:196712586 CFH C>T	1	196712586	196712586	C	T	CFH	c.3138C>T	NM_000186.4	NP_000177.2:p.(Thr1046=)	NC_000001.10:g.196712586C>T	(Likely) benign	4 labs	3aac124eff
5:178415937 GRM6 A>G	5	178415937	178415937	A	G	GRM6	c.1353T>C	NM_000843.4	NP_000834.2:p.(Asn451=)	NC_000005.9:g.178415937A>G	(Likely) benign	2 labs	eba3579ae0
21:45717534 PFKL C>T	21	45717534	45717534	C	T	PFKL				NC_000021.8:g.45717534C>T	(Likely) benign	2 labs	3ab97132fa
6:135763803 AHI1 C>T	6	135763803	135763803	C	T	AHI1	c.1829G>A	NM_001350503.2	NP_001337432.1:p.(Arg610Gln)	NC_000006.11:g.135763803C>T	VUS	2 labs	3ab9da0a20
7:124538436 POT1 GA>G	7	124538436	124538446	GA	G	POT1	c.-153-9del	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124538446del	(Likely) benign	2 labs	3abb595dda
12:22078977 ABCC9 A>G	12	22078977	22078977	A	G	ABCC9	c.305T>C	NM_020297.4	NP_064693.2:p.(Leu102Pro)	NC_000012.11:g.22078977A>G	VUS	2 labs	3aca27178e
17:61788214 STRADA G>A	17	61788214	61788214	G	A	STRADA	c.349-18C>T	NM_001003787.3	NP_001003787.1:p.?	NC_000017.10:g.61788214G>A	(Likely) benign	2 labs	3ac3ce39e4
16:57695604 ADGRG1 C>T	16	57695604	57695604	C	T	ADGRG1	c.1665-5C>T	NM_001145774.3	NP_001139246.1:p.?	NC_000016.9:g.57695604C>T	(Likely) benign	2 labs	3ad036b2c1
19:50813031 MYH14 CAG>C	19	50813031	50813033	CAG	C	MYH14	c.5973_5974del	NM_024729.4	NP_079005.3:p.(Ala1992ProfsTer13)	NC_000019.9:g.50813032_50813033del	(Likely) benign	3 labs	3ad881e05a
2:179480175 TTN T>C	2	179480175	179480175	T	C	TTN	c.48497A>G	NM_001267550.2	NP_001254479.2:p.(Asp16166Gly)	NC_000002.11:g.179480175T>C	VUS	2 labs	3acfca18c6
3:183960671 ALG3 C>T	3	183960671	183960671	C	T	ALG3	c.940G>A	NM_001006941.2	NP_001006942.1:p.(Val314Ile)	NC_000003.11:g.183960671C>T	VUS	2 labs	3adce55497
3:164739053 SI C>T	3	164739053	164739053	C	T	SI	c.3218G>A	NM_001041.3	NP_001032.2:p.(Gly1073Asp)	NC_000003.11:g.164739053C>T	(Likely) pathogenic	2 labs	3ae42ca21a
5:73179672 ARHGEF28 C>T	5	73179672	73179672	C	T	ARHGEF28	c.3018C>T	NM_001080479.3	NP_001073948.2:p.(Tyr1006=)	NC_000005.9:g.73179672C>T	(Likely) benign	2 labs	3ae46eec22
13:25466955 CPAP T>C	13	25466955	25466955	T	C	CPAP	c.3042A>G	NM_018451.5	NP_060921.3:p.(Glu1014=)	NC_000013.10:g.25466955T>C	(Likely) benign	2 labs	3ae79df10e
6:7542253 DSP G>A	6	7542253	7542253	G	A	DSP	c.105G>A	NM_004415.4	NP_004406.2:p.(Gly35=)	NC_000006.11:g.7542253G>A	(Likely) benign	6 labs	ebb20b71a5
21:43804100 TMPRSS3 C>T	21	43804100	43804100	C	T	TMPRSS3	c.595G>A	NM_024022.2	NP_076927.1:p.(Val199Met)	NC_000021.8:g.43804100C>T	(Likely) pathogenic	2 labs	3aed59d1b0
11:6661378 DCHS1 G>T	11	6661378	6661378	G	T	DCHS1	c.1467C>A	NM_003737.4	NP_003728.1:p.(Gly489=)	NC_000011.9:g.6661378G>T	(Likely) benign	2 labs	3aecb2912d
2:231037684 SP110 G>A	2	231037684	231037684	G	A	SP110	c.1591-9C>T	NM_080424.2	NP_536349.2:p.?	NC_000002.11:g.231037684G>A	(Likely) benign	2 labs	3af1449892
X:128723915 OCRL G>A	X	128723915	128723915	G	A	OCRL	c.2566G>A	NM_001318784.1	NP_001305713.1:p.(Val856Ile)	NC_000023.10:g.128723915G>A	(Likely) benign	2 labs	3af27f1f24
1:43201474 CLDN19 G>C	1	43201474	43201474	G	C	CLDN19	c.616C>G	NM_001185117.1	NP_001172046.1:p.(Gln206Glu)	NC_000001.10:g.43201474G>C	(Likely) benign	2 labs	3af7d78a84
19:16601168 CALR3 G>A	19	16601168	16601168	G	A	CALR3	c.397+10C>T	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16601168G>A	(Likely) benign	2 labs	3af654f7a1
14:51230581 NIN T>G	14	51230581	51230581	T	G	NIN	c.1737A>C	NM_020921.3	NP_065972.3:p.(Glu579Asp)	NC_000014.8:g.51230581T>G	VUS	2 labs	3afbec4056
X:152821887 ATP2B3 C>T	X	152821887	152821887	C	T	ATP2B3	c.2326+11C>T	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152821887C>T	(Likely) benign	2 labs	3afe5093a4
10:99219980 MMS19 G>A	10	99219980	99219980	G	A	MMS19	c.2596C>T	NM_001351356.1	NP_001338285.1:p.(Leu866Phe)	NC_000010.10:g.99219980G>A	VUS	2 labs	3b0449d1dd
1:235904715 LYST T>A	1	235904715	235904715	T	A	LYST	c.8358+7A>T	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235904715T>A	(Likely) benign	2 labs	3b0a843b35
2:152582014 NEB T>C	2	152582014	152582014	T	C	NEB	c.355A>G	NM_001271208.1	NP_001258137.1:p.(Thr119Ala)	NC_000002.11:g.152582014T>C	VUS	2 labs	3b0f0dbb0e
20:62324183 RTEL1 C>T	20	62324183	62324183	C	T	RTEL1	c.2750C>T	NM_032957.5	NP_116575.3:p.(Thr917Met)	NC_000020.10:g.62324183C>T	(Likely) benign	2 labs	3b195b792f
2:48026902 MSH6 GT>G	2	48026902	48026906	GT	G	MSH6	c.1784del	NM_000179.3	NP_000170.1:p.(Leu595TyrfsTer15)	NC_000002.11:g.48026906del	(Likely) pathogenic	3 labs	3b1a850727
13:32936761 BRCA2 G>A	13	32936761	32936761	G	A	BRCA2	c.7907G>A	NM_000059.3	NP_000050.2:p.(Cys2636Tyr)	NC_000013.10:g.32936761G>A	(Likely) benign	2 labs	3b226d7364
14:88454469 GALC A>T	14	88454469	88454469	A	T	GALC	c.328+19T>A	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88454469A>T	(Likely) benign	2 labs	3b1d5ccfdd
6:146480740 GRM1 TTCTCTCTCTC>T	6	146480740	146480778	TTCTCTCTCTC	T	GRM1	c.950+36_950+45del	NM_001278065.2	NP_001264994.1:p.?	NC_000006.11:g.146480769_146480778del	(Likely) benign	4 labs	3b22c8154b
8:27646357 ESCO2 A>G	8	27646357	27646357	A	G	ESCO2	c.1132-7A>G	NM_001017420.2	NP_001017420.1:p.?	NC_000008.10:g.27646357A>G	(Likely) pathogenic	3 labs	3b25da333b
10:112544655 RBM20 C>T	10	112544655	112544655	C	T	RBM20	c.1527+8C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544655C>T	(Likely) benign	2 labs	3b26349036
5:127693017 FBN2 A>G	5	127693017	127693017	A	G	FBN2	c.2625T>C	NM_001999.3	NP_001990.2:p.(Cys875=)	NC_000005.9:g.127693017A>G	(Likely) benign	2 labs	3b2d8fbdc6
X:13778715 OFD1 C>T	X	13778715	13778715	C	T	OFD1	c.2136C>T	NM_003611.2	NP_003602.1:p.(Asp712=)	NC_000023.10:g.13778715C>T	(Likely) benign	2 labs	3b34548be5
4:56878155 CEP135 A>G	4	56878155	56878155	A	G	CEP135	c.2802+4A>G	NM_025009.4	NP_079285.2:p.?	NC_000004.11:g.56878155A>G	VUS	2 labs	3b3749e031
7:21675482 DNAH11 A>T	7	21675482	21675482	A	T	DNAH11				NC_000007.13:g.21675482A>T	(Likely) benign	2 labs	3b376aa6b1
1:36939403 CSF3R C>G	1	36939403	36939403	C	G	CSF3R	c.447G>C	NM_156039.3	NP_724781.1:p.(Glu149Asp)	NC_000001.10:g.36939403C>G	(Likely) benign	2 labs	3b377d8c80
3:123471247 MYLK C>G	3	123471247	123471247	C	G	MYLK	c.304G>C	NM_053025.3	NP_444253.3:p.(Gly102Arg)	NC_000003.11:g.123471247C>G	VUS	3 labs	3b395c41bf
20:31022469 ASXL1 G>A	20	31022469	31022469	G	A	ASXL1	c.1954G>A	NM_015338.5	NP_056153.2:p.(Gly652Ser)	NC_000020.10:g.31022469G>A	(Likely) benign	3 labs	3b3b311106
1:52841179 ORC1 G>T	1	52841179	52841179	G	T	ORC1	c.2226C>A	NM_004153.3	NP_004144.2:p.(Ser742=)	NC_000001.10:g.52841179G>T	(Likely) benign	2 labs	3b3efbc3a5
16:89352026 ANKRD11 G>A	16	89352026	89352026	G	A	ANKRD11	c.924C>T	NM_001256182.2	NP_001243111.1:p.(Phe308=)	NC_000016.9:g.89352026G>A	(Likely) benign	2 labs	3b479b7a71
10:92679010 ANKRD1 G>GT	10	92679010	92679016	G	GT	ANKRD1	c.222dup	NM_014391.3	NP_055206.2:p.(Leu75ThrfsTer8)	NC_000010.10:g.92679016dup	VUS	4 labs	ebbcb1da56
14:58949250 KIAA0586 C>T	14	58949250	58949250	C	T	KIAA0586	c.2964C>T	NM_001329943.2	NP_001316872.1:p.(Gly988=)	NC_000014.8:g.58949250C>T	(Likely) benign	2 labs	3b5967689f
7:151372551 PRKAG2 G>A	7	151372551	151372551	G	A	PRKAG2	c.639C>T	NM_016203.4	NP_057287.2:p.(Thr213=)	NC_000007.13:g.151372551G>A	(Likely) benign	5 labs	3b5a939f27
7:139635991 TBXAS1 C>T	7	139635991	139635991	C	T	TBXAS1	c.338C>T	NM_001130966.2	NP_001124438.1:p.(Ala113Val)	NC_000007.13:g.139635991C>T	(Likely) benign	3 labs	3b5b448ff7
17:17701117 RAI1 G>T	17	17701117	17701117	G	T	RAI1	c.4855G>T	NM_030665.3	NP_109590.3:p.(Asp1619Tyr)	NC_000017.10:g.17701117G>T	VUS	2 labs	3b5d8d8381
X:124455025 TEX13C A>C	X	124455025	124455025	A	C	TEX13C	c.1057A>C	NM_001195272.2	NP_001182201.1:p.(Ser353Arg)	NC_000023.10:g.124455025A>C	VUS	2 labs	3b5dede263
19:49685939 TRPM4 C>G	19	49685939	49685939	C	G	TRPM4	c.1368C>G	NM_017636.4	NP_060106.2:p.(Thr456=)	NC_000019.9:g.49685939C>G	(Likely) benign	3 labs	3b6c28a511
10:16948412 CUBN A>G	10	16948412	16948412	A	G	CUBN	c.7706-4T>C	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16948412A>G	(Likely) benign	2 labs	3b704dc146
12:52159542 SCN8A C>T	12	52159542	52159542	C	T	SCN8A	c.2632C>T	NM_001330260.2	NP_001317189.1:p.(Leu878=)	NC_000012.11:g.52159542C>T	(Likely) benign	3 labs	3b74ac018f
4:151837607 LRBA C>G	4	151837607	151837607	C	G	LRBA	c.840G>C	NM_006726.4	NP_006717.2:p.(Lys280Asn)	NC_000004.11:g.151837607C>G	VUS	2 labs	3b7996bf4c
16:67694102 ACD C>T	16	67694102	67694102	C	T	ACD	c.22G>A	NM_001082486.2	NP_001075955.2:p.(Val8Ile)	NC_000016.9:g.67694102C>T	(Likely) benign	3 labs	3b7e007156
17:7578406 TP53 C>T	17	7578406	7578406	C	T	TP53	c.524G>A	NM_000546.6	NP_000537.3:p.(Arg175His)	NC_000017.10:g.7578406C>T	(Likely) pathogenic	5 labs	ebc45c9d44
16:4847754 ROGDI G>A	16	4847754	4847754	G	A	ROGDI	c.783C>T	NM_024589.2	NP_078865.1:p.(Phe261=)	NC_000016.9:g.4847754G>A	(Likely) benign	2 labs	3b86a02bf4
13:100925605 PCCA C>T	13	100925605	100925605	C	T	PCCA	c.1065+5C>T	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100925605C>T	(Likely) benign	3 labs	3b94fe3f3c
8:11607694 GATA4 G>A	8	11607694	11607694	G	A	GATA4	c.858G>A	NM_002052.4	NP_002043.2:p.(Ala286=)	NC_000008.10:g.11607694G>A	(Likely) benign	2 labs	3b967777e5
17:73746884 ITGB4 G>A	17	73746884	73746884	G	A	ITGB4	c.3598G>A	NM_000213.5	NP_000204.3:p.(Gly1200Arg)	NC_000017.10:g.73746884G>A	(Likely) benign	2 labs	ebcb426e6d
22:36661573 APOL1 G>A	22	36661573	36661573	G	A	APOL1	c.739G>A	NM_145343.2	NP_663318.1:p.(Gly247Arg)	NC_000022.10:g.36661573G>A	(Likely) benign	2 labs	3ba6632354
2:71908183 DYSF G>A	2	71908183	71908183	G	A	DYSF	c.6113G>A	NM_001130981.1	NP_001124453.1:p.(Arg2038Gln)	NC_000002.11:g.71908183G>A	VUS	2 labs	3bb4d62246
6:112440502 LAMA4 G>A	6	112440502	112440502	G	A	LAMA4	c.4657C>T	NM_002290.5	NP_002281.3:p.(Arg1553Ter)	NC_000006.11:g.112440502G>A	VUS	2 labs	ebd6b8f392
15:66996030 SMAD6 T>C	15	66996030	66996030	T	C	SMAD6	c.434T>C	NM_005585.4	NP_005576.3:p.(Leu145Pro)	NC_000015.9:g.66996030T>C	(Likely) benign	2 labs	3bc35dcf82
16:2103368 TSC2 C>T	16	2103368	2103368	C	T	TSC2	c.251C>T	NM_000548.5	NP_000539.2:p.(Ala84Val)	NC_000016.9:g.2103368C>T	(Likely) benign	2 labs	3bbe6a2900
1:185985178 HMCN1 T>C	1	185985178	185985178	T	C	HMCN1	c.4998T>C	NM_031935.3	NP_114141.2:p.(Ala1666=)	NC_000001.10:g.185985178T>C	(Likely) benign	2 labs	3bc861c3fc
6:157100077 ARID1B T>TGTGGCG	6	157100077	157100084	T	TGTGGCG	ARID1B	c.1265_1270dup	NM_001371656.1	NP_001358585.1:p.(Val422_Ala423dup)	NC_000006.11:g.157100079_157100084dup	(Likely) benign	2 labs	3bd281d82a
5:112162884 APC A>T	5	112162884	112162884	A	T	APC				NC_000005.9:g.112162884A>T	(Likely) benign	2 labs	3bccaac40a
17:76120993 TMC6 G>A	17	76120993	76120993	G	A	TMC6	c.610C>T	NM_001127198.2	NP_001120670.1:p.(Arg204Trp)	NC_000017.10:g.76120993G>A	(Likely) benign	2 labs	3bccf50f1f
X:13727206 RAB9A C>T	X	13727206	13727206	C	T	RAB9A	c.341C>T	NM_004251.4	NP_004242.1:p.(Pro114Leu)	NC_000023.10:g.13727206C>T	VUS	2 labs	3bd6afe161
20:30419539 MYLK2 T>C	20	30419539	30419539	T	C	MYLK2	c.1458T>C	NM_033118.3	NP_149109.1:p.(Asp486=)	NC_000020.10:g.30419539T>C	(Likely) benign	2 labs	3bf3fc7ea8
1:43891734 SZT2 C>T	1	43891734	43891734	C	T	SZT2	c.2955C>T	NM_015284.3	NP_056099.3:p.(Cys985=)	NC_000001.10:g.43891734C>T	(Likely) benign	2 labs	3bf5edb81c
12:6080820 VWF G>T	12	6080820	6080820	G	T	VWF	c.7493C>A	NM_000552.3	NP_000543.2:p.(Ala2498Asp)	NC_000012.11:g.6080820G>T	VUS	2 labs	3bf85d4142
2:21232804 APOB G>A	2	21232804	21232804	G	A	APOB	c.6936C>T	NM_000384.3	NP_000375.3:p.(Asp2312=)	NC_000002.11:g.21232804G>A	(Likely) benign	2 labs	ebe699e1ba
7:6037019 PMS2 AGGGGG>A	7	6037019	6037024	AGGGGG	A	PMS2	c.736_740del	NM_000535.7	NP_000526.2:p.(Pro246Ter)	NC_000007.13:g.6037020_6037024del	(Likely) pathogenic	2 labs	ebeab3d2b7
16:15835356 MYH11 T>C	16	15835356	15835356	T	C	MYH11	c.2844A>G	NM_001040113.1	NP_001035202.1:p.(Leu948=)	NC_000016.9:g.15835356T>C	(Likely) benign	2 labs	3c01db89d9
X:48460302 WDR13 C>T	X	48460302	48460302	C	T	WDR13	c.686C>T	NM_001166426.2	NP_001159898.1:p.(Ala229Val)	NC_000023.10:g.48460302C>T	VUS	2 labs	3c01ee3b16
7:73455584 ELN G>A	7	73455584	73455584	G	A	ELN	c.232+3G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73455584G>A	(Likely) benign	3 labs	3c00445901
15:31340152 TRPM1 A>G	15	31340152	31340152	A	G	TRPM1	c.1624-10T>C	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31340152A>G	(Likely) benign	2 labs	3c029baa95
12:116446564 MED13L T>C	12	116446564	116446564	T	C	MED13L	c.1654A>G	NM_015335.4	NP_056150.1:p.(Ile552Val)	NC_000012.11:g.116446564T>C	(Likely) benign	2 labs	3c079bc76f
12:7361754 PEX5 C>T	12	7361754	7361754	C	T	PEX5	c.1548C>T	NM_001131025.1	NP_001124497.1:p.(Ser516=)	NC_000012.11:g.7361754C>T	(Likely) benign	2 labs	3c0ca9f814
16:68855936 CDH1 C>T	16	68855936	68855936	C	T	CDH1	c.1744C>T	NM_004360.5	NP_004351.1:p.(Leu582=)	NC_000016.9:g.68855936C>T	(Likely) benign	4 labs	ebef8635fd
12:49418717 KMT2D C>T	12	49418717	49418717	C	T	KMT2D	c.15797G>A	NM_003482.4	NP_003473.3:p.(Arg5266His)	NC_000012.11:g.49418717C>T	(Likely) benign	2 labs	3c2356d43e
21:34017978 SYNJ1 T>C	21	34017978	34017978	T	C	SYNJ1	c.3486A>G	NM_203446.2	NP_982271.2:p.(Pro1162=)	NC_000021.8:g.34017978T>C	(Likely) benign	2 labs	3c2358dba9
2:48925746 LHCGR C>T	2	48925746	48925746	C	T	LHCGR	c.866+8G>A	NM_000233.4	NP_000224.2:p.?	NC_000002.11:g.48925746C>T	(Likely) benign	2 labs	3c29b0940c
X:153135517 L1CAM C>T	X	153135517	153135517	C	T	L1CAM	c.985G>A	NM_001278116.1	NP_001265045.1:p.(Val329Met)	NC_000023.10:g.153135517C>T	VUS	2 labs	3c30ec4751
X:57936112 ZXDA A>G	X	57936112	57936112	A	G	ZXDA	c.743T>C	NM_007156.4	NP_009087.1:p.(Leu248Pro)	NC_000023.10:g.57936112A>G	(Likely) benign	2 labs	3c340e8ea5
10:88451635 LDB3 CCT>C	10	88451635	88451643	CCT	C	LDB3	c.894-11_894-10del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88451642_88451643del	(Likely) benign	2 labs	3c34c1b1ad
15:44890898 SPG11 C>G	15	44890898	44890898	C	G	SPG11	c.3823G>C	NM_025137.4	NP_079413.3:p.(Ala1275Pro)	NC_000015.9:g.44890898C>G	VUS	2 labs	ebfb0004d4
10:97976458 BLNK A>G	10	97976458	97976458	A	G	BLNK	c.558T>C	NM_013314.3	NP_037446.1:p.(Asp186=)	NC_000010.10:g.97976458A>G	(Likely) benign	2 labs	3c40b208b1
22:30064307 NF2 C>T	22	30064307	30064307	C	T	NF2	c.886-15C>T	NM_181832.3	NP_861970.1:p.?	NC_000022.10:g.30064307C>T	(Likely) benign	2 labs	3c4a5b79c8
X:54955724 TRO C>T	X	54955724	54955724	C	T	TRO	c.2567C>T	NM_001039705.2	NP_001034794.1:p.(Thr856Met)	NC_000023.10:g.54955724C>T	(Likely) benign	2 labs	3c4897fa78
9:108337355 FKTN G>A	9	108337355	108337355	G	A	FKTN	c.42G>A	NM_006731.2	NP_006722.2:p.(Thr14=)	NC_000009.11:g.108337355G>A	(Likely) benign	3 labs	3c491f5d23
2:109384167 RANBP2 C>G	2	109384167	109384167	C	G	RANBP2	c.7172C>G	NM_006267.5	NP_006258.3:p.(Thr2391Ser)	NC_000002.11:g.109384167C>G	(Likely) benign	4 labs	3c4ac7d2a3
8:10467207 RP1L1 C>A	8	10467207	10467207	C	A	RP1L1	c.4401G>T	NM_178857.6	NP_849188.4:p.(Arg1467Ser)	NC_000008.10:g.10467207C>A	(Likely) benign	2 labs	ebfe350c5f
2:179567398 TTN A>C	2	179567398	179567398	A	C	TTN	c.30224-8T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179567398A>C	(Likely) benign	4 labs	3c53f033d4
4:5633752 EVC2 A>G	4	5633752	5633752	A	G	EVC2	c.1238T>C	NM_001166136.1	NP_001159608.1:p.(Val413Ala)	NC_000004.11:g.5633752A>G	(Likely) benign	2 labs	3c5603ae1b
17:29533272 NF1 G>A	17	29533272	29533272	G	A	NF1	c.1275G>A	NM_000267.3	NP_000258.1:p.(Trp425Ter)	NC_000017.10:g.29533272G>A	(Likely) pathogenic	2 labs	3c564e544d
X:69176943 EDA C>T	X	69176943	69176943	C	T	EDA	c.463C>T	NM_001399.5	NP_001390.1:p.(Arg155Cys)	NC_000023.10:g.69176943C>T	(Likely) pathogenic	3 labs	ebff3405b1
12:124209352 ATP6V0A2 C>T	12	124209352	124209352	C	T	ATP6V0A2	c.432+14C>T	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124209352C>T	(Likely) benign	2 labs	3c5fd486a5
1:2237624 SKI C>G	1	2237624	2237624	C	G	SKI	c.1933C>G	NM_003036.4	NP_003027.1:p.(Arg645Gly)	NC_000001.10:g.2237624C>G	VUS	2 labs	3c5662a1ce
1:152285868 FLG C>G	1	152285868	152285868	C	G	FLG	c.1494G>C	NM_002016.1	NP_002007.1:p.(Glu498Asp)	NC_000001.10:g.152285868C>G	(Likely) benign	2 labs	3c626ed9de
1:9780812 PIK3CD C>T	1	9780812	9780812	C	T	PIK3CD	c.1534C>T	NM_005026.5	NP_005017.3:p.(Arg512Trp)	NC_000001.10:g.9780812C>T	VUS	2 labs	ec016a70c7
14:70490008 SMOC1 A>C	14	70490008	70490008	A	C	SMOC1	c.1135A>C	NM_001034852.2	NP_001030024.1:p.(Ile379Leu)	NC_000014.8:g.70490008A>C	VUS	2 labs	3c65d00ddc
17:61568577 ACE C>T	17	61568577	61568577	C	T	ACE	c.2747C>T	NM_000789.3	NP_000780.1:p.(Thr916Met)	NC_000017.10:g.61568577C>T	(Likely) benign	2 labs	3c69edf129
9:131395078 SPTAN1 C>T	9	131395078	131395078	C	T	SPTAN1	c.7161-9C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131395078C>T	(Likely) benign	2 labs	3c708652f0
4:95972851 BMPR1B A>G	4	95972851	95972851	A	G	BMPR1B	c.1A>G	NM_001256793.1	NP_001243722.1:p.(Met1?)	NC_000004.11:g.95972851A>G	VUS	2 labs	3c71830ce3
1:215848510 USH2A T>C	1	215848510	215848510	T	C	USH2A	c.12743A>G	NM_206933.4	NP_996816.3:p.(His4248Arg)	NC_000001.10:g.215848510T>C	(Likely) benign	2 labs	3c78630a3a
5:77452188 AP3B1 A>G	5	77452188	77452188	A	G	AP3B1	c.1220T>C	NM_001271769.1	NP_001258698.1:p.(Ile407Thr)	NC_000005.9:g.77452188A>G	(Likely) benign	3 labs	3c7ce21bbf
3:46902491 MYL3 C>A	3	46902491	46902491	C	A	MYL3	c.130-14G>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902491C>A	(Likely) benign	5 labs	3c940c2431
3:193372726 OPA1 G>A	3	193372726	193372726	G	A	OPA1	c.2088G>A	NM_130837.3	NP_570850.2:p.(Ala696=)	NC_000003.11:g.193372726G>A	(Likely) benign	2 labs	3c94864364
4:79367889 FRAS1 C>T	4	79367889	79367889	C	T	FRAS1	c.5865C>T	NM_025074.7	NP_079350.5:p.(Asn1955=)	NC_000004.11:g.79367889C>T	(Likely) benign	2 labs	3c9e9f7f95
X:111003227 ALG13 A>C	X	111003227	111003227	A	C	ALG13	n.2905A>C	NR_148693.2		NC_000023.10:g.111003227A>C	(Likely) benign	3 labs	3ca521a5cf
X:132162229 USP26 C>T	X	132162229	132162229	C	T	USP26	c.20G>A	NM_031907.1	NP_114113.1:p.(Arg7His)	NC_000023.10:g.132162229C>T	(Likely) benign	2 labs	3cae870f55
17:58234066 CA4 C>T	17	58234066	58234066	C	T	CA4	c.258C>T	NM_000717.5	NP_000708.1:p.(Asn86=)	NC_000017.10:g.58234066C>T	(Likely) benign	2 labs	3caafcefa6
18:29118843 DSG2 T>C	18	29118843	29118843	T	C	DSG2	c.1781T>C	NM_001943.5	NP_001934.2:p.(Leu594Pro)	NC_000018.9:g.29118843T>C	(Likely) benign	2 labs	3cac3b2307
1:237693732 RYR2 T>C	1	237693732	237693732	T	C	RYR2	c.2828T>C	NM_001035.2	NP_001026.2:p.(Leu943Ser)	NC_000001.10:g.237693732T>C	VUS	2 labs	3caf88cd68
X:47774515 ZNF81 A>G	X	47774515	47774515	A	G	ZNF81	c.470A>G	NM_007137.5	NP_009068.2:p.(Asn157Ser)	NC_000023.10:g.47774515A>G	(Likely) benign	4 labs	ec210c6b17
17:7751144 KDM6B G>C	17	7751144	7751144	G	C	KDM6B	c.1538G>C	NM_001080424.2	NP_001073893.1:p.(Arg513Pro)	NC_000017.10:g.7751144G>C	(Likely) benign	2 labs	3cb860b74a
11:6646587 DCHS1 G>A	11	6646587	6646587	G	A	DCHS1				NC_000011.9:g.6646587G>A	(Likely) pathogenic	2 labs	3cc50ed451
4:151791682 LRBA T>C	4	151791682	151791682	T	C	LRBA	c.2444A>G	NM_006726.4	NP_006717.2:p.(Asn815Ser)	NC_000004.11:g.151791682T>C	(Likely) benign	3 labs	3cc76dc956
1:152275876 FLG C>T	1	152275876	152275876	C	T	FLG	c.11486G>A	NM_002016.1	NP_002007.1:p.(Arg3829His)	NC_000001.10:g.152275876C>T	(Likely) benign	2 labs	3cc7771e13
11:103055619 DYNC2H1 C>T	11	103055619	103055619	C	T	DYNC2H1	c.6478-6C>T	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103055619C>T	(Likely) benign	2 labs	3ccb7226e2
22:41282309 XPNPEP3 A>G	22	41282309	41282309	A	G	XPNPEP3	c.590-8A>G	NM_022098.3	NP_071381.1:p.?	NC_000022.10:g.41282309A>G	(Likely) benign	2 labs	3ccdabed56
6:42666145 PRPH2 C>T	6	42666145	42666145	C	T	PRPH2	c.929G>A	NM_000322.5	NP_000313.2:p.(Arg310Lys)	NC_000006.11:g.42666145C>T	(Likely) benign	3 labs	3ccf5fb6c3
12:112888172 PTPN11 A>G	12	112888172	112888172	A	G	PTPN11	c.188A>G	NM_002834.5	NP_002825.3:p.(Tyr63Cys)	NC_000012.11:g.112888172A>G	(Likely) pathogenic	3 labs	ec27e87066
X:13775771 OFD1 C>T	X	13775771	13775771	C	T	OFD1	c.992-8C>T	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13775771C>T	(Likely) benign	2 labs	3cd385f2c1
2:9663444 ADAM17 A>G	2	9663444	9663444	A	G	ADAM17	c.777T>C	NM_003183.6	NP_003174.3:p.(Asp259=)	NC_000002.11:g.9663444A>G	(Likely) benign	2 labs	3cd780997e
22:19902785 TXNRD2 G>A	22	19902785	19902785	G	A	TXNRD2	c.543C>T	NM_006440.5	NP_006431.2:p.(Ala181=)	NC_000022.10:g.19902785G>A	(Likely) benign	2 labs	3cdd23b5ba
3:37070437 MLH1 G>A	3	37070437	37070437	G	A	MLH1	c.1558+14G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37070437G>A	(Likely) benign	5 labs	3ce9f29a76
15:35083494 ACTC1 T>C	15	35083494	35083494	T	C	ACTC1	c.811A>G	NM_005159.4	NP_005150.1:p.(Met271Val)	NC_000015.9:g.35083494T>C	(Likely) pathogenic	2 labs	3ce8c45357
11:108192104 ATM C>T	11	108192104	108192104	C	T	ATM	c.6529C>T	NM_000051.3	NP_000042.3:p.(Gln2177Ter)	NC_000011.9:g.108192104C>T	(Likely) pathogenic	3 labs	3cec6fbec4
7:47847877 PKD1L1 T>C	7	47847877	47847877	T	C	PKD1L1	c.7795A>G	NM_138295.4	NP_612152.1:p.(Met2599Val)	NC_000007.13:g.47847877T>C	(Likely) benign	2 labs	3ced1ada21
X:56296651 KLF8 G>A	X	56296651	56296651	G	A	KLF8	c.795G>A	NM_007250.5	NP_009181.2:p.(Ser265=)	NC_000023.10:g.56296651G>A	(Likely) benign	2 labs	3cf36342d5
16:29824508 PRRT2 C>T	16	29824508	29824508	C	T	PRRT2	c.133C>T	NM_001256443.1	NP_001243372.1:p.(Pro45Ser)	NC_000016.9:g.29824508C>T	(Likely) benign	2 labs	3d04a8c7a7
4:88536829 DSPP TAGCAGTGAC>T	4	88536829	88536855	TAGCAGTGAC	T	DSPP	c.3033_3041del	NM_014208.3	NP_055023.2:p.(Asp1014_Ser1016del)	NC_000004.11:g.88536847_88536855del	VUS	2 labs	3d0841d74f
1:27432505 SLC9A1 G>A	1	27432505	27432505	G	A	SLC9A1	c.1356C>T	NM_003047.5	NP_003038.2:p.(Ile452=)	NC_000001.10:g.27432505G>A	(Likely) benign	3 labs	3d0faf730c
6:152711395 SYNE1 T>A	6	152711395	152711395	T	A	SYNE1	c.8177+20A>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152711395T>A	(Likely) benign	4 labs	ec29509ab7
8:61694004 CHD7 G>GA	8	61694004	61694010	G	GA	CHD7	c.2096+21dup	NM_017780.2	NP_060250.2:p.?	NC_000008.10:g.61694010dup	(Likely) benign	2 labs	3d158018b6
6:24505165 ALDH5A1 G>C	6	24505165	24505165	G	C	ALDH5A1	c.678G>C	NM_170740.1	NP_733936.1:p.(Val226=)	NC_000006.11:g.24505165G>C	(Likely) benign	2 labs	3d2dbd0c6a
11:67287263 CABP2 C>A	11	67287263	67287263	C	A	CABP2	c.655+1G>T	NM_001318496.1	NP_001305425.1:p.?	NC_000011.9:g.67287263C>A	(Likely) pathogenic	2 labs	3d3663f3d7
22:29092917 CHEK2 G>A	22	29092917	29092917	G	A	CHEK2	c.1067C>T	NM_007194.4	NP_009125.1:p.(Ser356Leu)	NC_000022.10:g.29092917G>A	VUS	2 labs	ec2de335a2
1:201334762 TNNT2 G>A	1	201334762	201334762	G	A	TNNT2	c.240C>T	NM_001276347.2	NP_001263276.1:p.(Pro80=)	NC_000001.10:g.201334762G>A	(Likely) benign	2 labs	3d42ffd688
11:108192164 ATM A>G	11	108192164	108192164	A	G	ATM	c.6572+17A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108192164A>G	(Likely) benign	2 labs	3d4b18b2c4
12:106773901 POLR3B T>C	12	106773901	106773901	T	C	POLR3B	c.707T>C	NM_018082.6	NP_060552.4:p.(Ile236Thr)	NC_000012.11:g.106773901T>C	VUS	3 labs	3d585b21bd
9:95007308 IARS1 C>T	9	95007308	95007308	C	T	IARS1	c.2837G>A	NM_013417.3	NP_038203.2:p.(Arg946His)	NC_000009.11:g.95007308C>T	(Likely) benign	2 labs	3d518e4fe6
6:137524803 IFNGR1 G>T	6	137524803	137524803	G	T	IFNGR1	c.443C>A	NM_001363527.1	NP_001350456.1:p.(Thr148Lys)	NC_000006.11:g.137524803G>T	(Likely) benign	2 labs	3d5b85654d
22:46068019 ATXN10 C>T	22	46068019	46068019	C	T	ATXN10	c.76C>T	NM_013236.3	NP_037368.1:p.(Leu26=)	NC_000022.10:g.46068019C>T	(Likely) benign	2 labs	3d5c0ba386
2:179476696 TTN A>G	2	179476696	179476696	A	G	TTN	c.50355-15T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179476696A>G	(Likely) benign	3 labs	ec31f6a83b
22:25627592 CRYBB2 C>T	22	25627592	25627592	C	T	CRYBB2	c.471C>T	NM_000496.2	NP_000487.1:p.(Pro157=)	NC_000022.10:g.25627592C>T	(Likely) benign	2 labs	3d6ba46c3b
15:31327772 TRPM1 G>C	15	31327772	31327772	G	C	TRPM1	c.2728C>G	NM_001252020.1	NP_001238949.1:p.(Leu910Val)	NC_000015.9:g.31327772G>C	VUS	2 labs	3d6c73bc80
10:105819880 COL17A1 C>T	10	105819880	105819880	C	T	COL17A1	c.1138G>A	NM_000494.4	NP_000485.3:p.(Ala380Thr)	NC_000010.10:g.105819880C>T	(Likely) benign	2 labs	3d777484e6
2:179669304 TTN G>A	2	179669304	179669304	G	A	TTN	c.66C>T	NM_001267550.1	NP_001254479.1:p.(Thr22=)	NC_000002.11:g.179669304G>A	(Likely) benign	2 labs	3d7751c45f
15:58834741 LIPC G>T	15	58834741	58834741	G	T	LIPC	c.465G>T	NM_000236.3	NP_000227.2:p.(Val155=)	NC_000015.9:g.58834741G>T	(Likely) benign	2 labs	ec38685d9d
13:32915039 BRCA2 G>T	13	32915039	32915039	G	T	BRCA2	c.6547G>T	NM_000059.4	NP_000050.3:p.(Glu2183Ter)	NC_000013.10:g.32915039G>T	(Likely) pathogenic	2 labs	3d7eeef465
9:140672443 EHMT1 G>A	9	140672443	140672443	G	A	EHMT1	c.2128G>A	NM_024757.4	NP_079033.4:p.(Gly710Ser)	NC_000009.11:g.140672443G>A	(Likely) benign	2 labs	3d7f4fe9cb
11:47362758 MYBPC3 C>T	11	47362758	47362758	C	T	MYBPC3	c.1828G>A	NM_000256.3	NP_000247.2:p.(Asp610Asn)	NC_000011.9:g.47362758C>T	VUS	2 labs	3d82b27c9e
12:88477630 CEP290 C>T	12	88477630	88477630	C	T	CEP290	c.4806G>A	NM_025114.4	NP_079390.3:p.(Thr1602=)	NC_000012.11:g.88477630C>T	(Likely) benign	3 labs	3d84a16a31
X:73744567 SLC16A2 C>T	X	73744567	73744567	C	T	SLC16A2	c.949C>T	NM_006517.5	NP_006508.2:p.(Arg317Cys)	NC_000023.10:g.73744567C>T	(Likely) benign	2 labs	3d907fbef8
22:29095831 CHEK2 C>G	22	29095831	29095831	C	G	CHEK2	c.1003G>C	NM_007194.4	NP_009125.1:p.(Val335Leu)	NC_000022.10:g.29095831C>G	VUS	3 labs	ec3a6fd985
11:111896251 DLAT G>C	11	111896251	111896251	G	C	DLAT	c.55G>C	NM_001931.5	NP_001922.2:p.(Glu19Gln)	NC_000011.9:g.111896251G>C	(Likely) benign	2 labs	ec406c95f5
2:179517632 TTN G>A	2	179517632	179517632	G	A	TTN	c.38902C>T	NM_001267550.2	NP_001254479.2:p.(Pro12968Ser)	NC_000002.11:g.179517632G>A	(Likely) benign	2 labs	3d99337919
X:79932416 BRWD3 C>T	X	79932416	79932416	C	T	BRWD3	c.5101G>A	NM_153252.5	NP_694984.5:p.(Gly1701Arg)	NC_000023.10:g.79932416C>T	(Likely) benign	3 labs	3da2fc26ee
X:153609395 EMD C>T	X	153609395	153609395	C	T	EMD	c.603C>T	NM_000117.3	NP_000108.1:p.(Leu201=)	NC_000023.10:g.153609395C>T	(Likely) benign	3 labs	3dbc5ecebf
X:24382373 SUPT20HL1 TTGCTGCTGCTGCTGCTGC>T	X	24382373	24382428	TTGCTGCTGCTGCTGCTGC	T	SUPT20HL1	c.1534_1551del	NM_001136234.3	NP_001129706.3:p.(Ala512_Ala517del)	NC_000023.10:g.24382411_24382428del	VUS	2 labs	3dba6d9a1f
X:18660251 RS1 G>A	X	18660251	18660251	G	A	RS1	c.548C>T	NM_000330.3	NP_000321.1:p.(Thr183Ile)	NC_000023.10:g.18660251G>A	(Likely) benign	2 labs	3dbb22b705
7:139657540 TBXAS1 C>T	7	139657540	139657540	C	T	TBXAS1	c.799C>T	NM_001130966.2	NP_001124438.1:p.(Arg267Trp)	NC_000007.13:g.139657540C>T	VUS	3 labs	3dbc9062eb
22:38528943 PLA2G6 C>T	22	38528943	38528943	C	T	PLA2G6	c.972G>A	NM_003560.4	NP_003551.2:p.(Ala324=)	NC_000022.10:g.38528943C>T	(Likely) benign	3 labs	ec46633d53
13:23911748 SACS C>T	13	23911748	23911748	C	T	SACS	c.6267G>A	NM_014363.5	NP_055178.3:p.(Ser2089=)	NC_000013.10:g.23911748C>T	(Likely) benign	2 labs	3dc3fe4611
12:80752443 OTOGL C>A	12	80752443	80752443	C	A	OTOGL	c.6095-8C>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80752443C>A	(Likely) benign	2 labs	3dc571ef41
18:43440193 EPG5 C>G	18	43440193	43440193	C	G	EPG5	c.6885G>C	NM_020964.3	NP_066015.2:p.(Trp2295Cys)	NC_000018.9:g.43440193C>G	VUS	2 labs	3dc81115a3
16:88786328 PIEZO1 C>T	16	88786328	88786328	C	T	PIEZO1	c.6205G>A	NM_001142864.4	NP_001136336.2:p.(Val2069Met)	NC_000016.9:g.88786328C>T	VUS	2 labs	3dca2c6c3d
11:108196896 ATM C>T	11	108196896	108196896	C	T	ATM	c.6919C>T	NM_000051.4	NP_000042.3:p.(Leu2307Phe)	NC_000011.9:g.108196896C>T	(Likely) benign	7 labs	ec55b0038f
1:247592912 NLRP3 A>G	1	247592912	247592912	A	G	NLRP3	c.2176A>G	NM_001243133.1	NP_001230062.1:p.(Ser726Gly)	NC_000001.10:g.247592912A>G	(Likely) benign	2 labs	3dde77b4e4
17:78172201 CARD14 C>T	17	78172201	78172201	C	T	CARD14	c.1662C>T	NM_024110.4	NP_077015.2:p.(Gly554=)	NC_000017.10:g.78172201C>T	(Likely) benign	2 labs	3dded95022
X:71788730 HDAC8 C>T	X	71788730	71788730	C	T	HDAC8	c.169G>A	NM_001166419.1	NP_001159891.1:p.(Val57Ile)	NC_000023.10:g.71788730C>T	(Likely) benign	2 labs	3de0e15738
11:47355553 MYBPC3 G>A	11	47355553	47355553	G	A	MYBPC3	c.2914C>T	NM_000256.3	NP_000247.2:p.(Arg972Trp)	NC_000011.9:g.47355553G>A	(Likely) benign	4 labs	3de1beeefb
11:67817678 TCIRG1 C>T	11	67817678	67817678	C	T	TCIRG1	c.1299C>T	NM_001351059.1	NP_001337988.1:p.(Thr433=)	NC_000011.9:g.67817678C>T	(Likely) benign	2 labs	3dec69fedb
1:22965457 C1QA A>C	1	22965457	22965457	A	C	C1QA	c.295A>C	NM_001347465.1	NP_001334394.1:p.(Ile99Leu)	NC_000001.10:g.22965457A>C	(Likely) benign	2 labs	3df58e139e
16:89986458 MC1R C>T	16	89986458	89986458	C	T	MC1R	c.792C>T	NM_002386.4	NP_002377.4:p.(Ile264=)	NC_000016.9:g.89986458C>T	(Likely) benign	2 labs	3dea9e50f7
2:48010488 MSH6 G>A	2	48010488	48010488	G	A	MSH6	c.116G>A	NM_000179.3	NP_000170.1:p.(Gly39Glu)	NC_000002.11:g.48010488G>A	(Likely) benign	4 labs	3e0f2ba3f5
X:106846199 FRMPD3 C>T	X	106846199	106846199	C	T	FRMPD3	c.5029C>T	NM_032428.2	NP_115804.1:p.(Arg1677Cys)	NC_000023.10:g.106846199C>T	VUS	2 labs	3e0b30c569
11:108164094 ATM T>C	11	108164094	108164094	T	C	ATM	c.4666T>C	NM_001351834.1	NP_001338763.1:p.(Tyr1556His)	NC_000011.9:g.108164094T>C	(Likely) benign	2 labs	3e143b8174
12:53819467 AMHR2 C>T	12	53819467	53819467	C	T	AMHR2	c.622-6C>T	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53819467C>T	(Likely) benign	2 labs	3e1e5db3a9
13:39263953 FREM2 C>T	13	39263953	39263953	C	T	FREM2	c.2472C>T	NM_207361.5	NP_997244.4:p.(Pro824=)	NC_000013.10:g.39263953C>T	(Likely) benign	2 labs	3e23b0dd6c
2:152483522 NEB C>T	2	152483522	152483522	C	T	NEB	c.10341G>A	NM_001271208.1	NP_001258137.1:p.(Met3447Ile)	NC_000002.11:g.152483522C>T	VUS	2 labs	3e260f09f4
3:98312012 CPOX G>A	3	98312012	98312012	G	A	CPOX	c.337C>T	NM_000097.7	NP_000088.3:p.(Leu113=)	NC_000003.11:g.98312012G>A	(Likely) benign	2 labs	3e33d71c29
11:108155205 ATM G>T	11	108155205	108155205	G	T	ATM	c.3993+5G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108155205G>T	(Likely) benign	5 labs	3e2f987a56
4:15542512 CC2D2A G>A	4	15542512	15542512	G	A	CC2D2A	c.2056G>A	NM_001080522.2	NP_001073991.2:p.(Val686Met)	NC_000004.11:g.15542512G>A	VUS	3 labs	3e2fcda8f2
19:36575654 WDR62 C>T	19	36575654	36575654	C	T	WDR62	c.1642+8C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36575654C>T	(Likely) benign	2 labs	3e386b2346
3:38592018 SCN5A C>T	3	38592018	38592018	C	T	SCN5A	c.5845G>A	NM_198056.2	NP_932173.1:p.(Ala1949Thr)	NC_000003.11:g.38592018C>T	VUS	2 labs	3e44f9451d
16:731504 STUB1 CGAA>C	16	731504	731514	CGAA	C	STUB1	c.433_435del	NM_005861.4	NP_005852.2:p.(Lys145del)	NC_000016.9:g.731512_731514del	VUS	3 labs	3e4b7b331b
7:146741012 CNTNAP2 A>G	7	146741012	146741012	A	G	CNTNAP2	c.416A>G	NM_014141.5	NP_054860.1:p.(Asn139Ser)	NC_000007.13:g.146741012A>G	VUS	2 labs	3e556a9bb1
8:42178351 IKBKB G>T	8	42178351	42178351	G	T	IKBKB	c.1500G>T	NM_001242778.1	NP_001229707.1:p.(Thr500=)	NC_000008.10:g.42178351G>T	(Likely) benign	2 labs	3e5dba856b
10:13337588 PHYH G>A	10	13337588	13337588	G	A	PHYH	c.153C>T	NM_006214.4	NP_006205.1:p.(Asn51=)	NC_000010.10:g.13337588G>A	(Likely) benign	2 labs	ec68a43517
X:135047197 MMGT1 A>G	X	135047197	135047197	A	G	MMGT1	c.382T>C	NM_173470.3	NP_775741.1:p.(Ser128Pro)	NC_000023.10:g.135047197A>G	(Likely) benign	2 labs	ec6a8e4a07
8:55542188 RP1 C>T	8	55542188	55542188	C	T	RP1	c.5746C>T	NM_006269.2	NP_006260.1:p.(Gln1916Ter)	NC_000008.10:g.55542188C>T	(Likely) pathogenic	2 labs	3e66f4f7a6
12:21997725 ABCC9 T>C	12	21997725	21997725	T	C	ABCC9	c.3221A>G	NM_001377273.1	NP_001364202.1:p.(Asn1074Ser)	NC_000012.11:g.21997725T>C	VUS	4 labs	3e69385c35
X:135290675 FHL1 G>T	X	135290675	135290675	G	T	FHL1	c.563G>T	NM_001159704.1	NP_001153176.1:p.(Cys188Phe)	NC_000023.10:g.135290675G>T	VUS	2 labs	3e755738a3
16:89598356 SPG7 C>T	16	89598356	89598356	C	T	SPG7	c.1032C>T	NM_003119.3	NP_003110.1:p.(Gly344=)	NC_000016.9:g.89598356C>T	(Likely) benign	2 labs	3e7650c1d5
12:9085589 PHC1 CGCTAAGATGTCA>C	12	9085589	9085604	CGCTAAGATGTCA	C	PHC1	c.1540_1551del	NM_004426.3	NP_004417.2:p.(Lys514_Ala517del)	NC_000012.11:g.9085593_9085604del	VUS	2 labs	3e77433a3b
X:135067994 SLC9A6 C>T	X	135067994	135067994	C	T	SLC9A6	c.325+8C>T	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135067994C>T	(Likely) benign	2 labs	3e7a52c8b9
7:124491959 POT1 T>C	7	124491959	124491959	T	C	POT1	c.916A>G	NM_015450.2	NP_056265.2:p.(Ile306Val)	NC_000007.13:g.124491959T>C	(Likely) benign	2 labs	3e7f7e675a
4:100532498 MTTP G>A	4	100532498	100532498	G	A	MTTP	c.1877G>A	NM_000253.4	NP_000244.2:p.(Arg626His)	NC_000004.11:g.100532498G>A	(Likely) benign	2 labs	3e7b7c5e05
4:6303491 WFS1 A>G	4	6303491	6303491	A	G	WFS1	c.1969A>G	NM_006005.3	NP_005996.2:p.(Met657Val)	NC_000004.11:g.6303491A>G	VUS	2 labs	3e830f6599
8:10467629 RP1L1 T>TTTC	8	10467629	10467632	T	TTTC	RP1L1	c.3978_3979insGAA	NM_178857.6	NP_849188.4:p.(Lys1326_Thr1327insGlu)	NC_000008.10:g.10467631_10467632insCTT	(Likely) benign	2 labs	3e9f71872d
14:57268922 OTX2 G>C	14	57268922	57268922	G	C	OTX2	c.401C>G	NM_001270524.1	NP_001257453.1:p.(Pro134Arg)	NC_000014.8:g.57268922G>C	VUS	2 labs	3eaa7e1f3a
11:103027234 DYNC2H1 A>G	11	103027234	103027234	A	G	DYNC2H1	c.3862A>G	NM_001080463.2	NP_001073932.1:p.(Thr1288Ala)	NC_000011.9:g.103027234A>G	(Likely) benign	3 labs	3eb5387219
2:109383607 RANBP2 C>A	2	109383607	109383607	C	A	RANBP2	c.6612C>A	NM_006267.4	NP_006258.3:p.(Ala2204=)	NC_000002.11:g.109383607C>A	(Likely) benign	2 labs	3eaf8b6b9b
16:2136369 TSC2 ACAT>A	16	2136369	2136375	ACAT	A	TSC2	c.4773_4775del	NM_001114382.3	NP_001107854.1:p.(Ile1591del)	NC_000016.9:g.2136373_2136375del	(Likely) pathogenic	2 labs	3ec5c0fd11
20:31025163 ASXL1 A>G	20	31025163	31025163	A	G	ASXL1	c.*22A>G	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.31025163A>G	(Likely) benign	2 labs	3ec12581a7
11:17538966 USH1C C>T	11	17538966	17538966	C	T	USH1C	c.1266G>A	NM_005709.4	NP_005700.2:p.(Thr422=)	NC_000011.9:g.17538966C>T	(Likely) benign	2 labs	3ebca487fd
17:41215364 BRCA1 TTC>T	17	41215364	41215367	TTC	T	BRCA1	c.5177_5178del	NM_007294.4	NP_009225.1:p.(Arg1726LysfsTer5)	NC_000017.10:g.41215366_41215367del	(Likely) pathogenic	2 labs	3ecd9404f6
11:70319533 SHANK2 A>G	11	70319533	70319533	A	G	SHANK2	c.3227T>C	NM_133266.5	NP_573573.2:p.(Ile1076Thr)	NC_000011.9:g.70319533A>G	(Likely) benign	2 labs	3ed86a6e30
7:151273491 PRKAG2 C>T	7	151273491	151273491	C	T	PRKAG2	c.912G>A	NM_016203.4	NP_057287.2:p.(Ala304=)	NC_000007.13:g.151273491C>T	(Likely) benign	4 labs	3ecdd33c7e
2:211476897 CPS1 C>T	2	211476897	211476897	C	T	CPS1	c.2448C>T	NM_001875.5	NP_001866.2:p.(Cys816=)	NC_000002.11:g.211476897C>T	(Likely) benign	3 labs	3ed1f3f863
21:47533977 COL6A2 G>A	21	47533977	47533977	G	A	COL6A2	c.791G>A	NM_058175.3	NP_478055.2:p.(Arg264His)	NC_000021.8:g.47533977G>A	VUS	3 labs	3eda6f973e
9:35748436 GBA2 C>G	9	35748436	35748436	C	G	GBA2	c.266G>C	NM_020944.2	NP_065995.1:p.(Cys89Ser)	NC_000009.11:g.35748436C>G	(Likely) benign	2 labs	3efe085b3b
1:156107493 LMNA G>A	1	156107493	156107493	G	A	LMNA				NC_000001.10:g.156107493G>A	VUS	2 labs	3f05664b52
11:66475716 SPTBN2 C>T	11	66475716	66475716	C	T	SPTBN2	c.1246G>A	NM_006946.4	NP_008877.2:p.(Glu416Lys)	NC_000011.9:g.66475716C>T	VUS	4 labs	3f0ca33580
16:84208329 DNAAF1 G>A	16	84208329	84208329	G	A	DNAAF1	c.1698+1G>A	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84208329G>A	VUS	2 labs	3f0f23c419
11:47374187 MYBPC3 C>T	11	47374187	47374187	C	T	MYBPC3	c.12G>A	NM_000256.3	NP_000247.2:p.(Pro4=)	NC_000011.9:g.47374187C>T	(Likely) benign	4 labs	3f0d67e512
X:131212514 FRMD7 T>C	X	131212514	131212514	T	C	FRMD7	c.1531A>G	NM_194277.2	NP_919253.1:p.(Ile511Val)	NC_000023.10:g.131212514T>C	VUS	2 labs	3f110fb9fb
15:89864020 POLG G>A	15	89864020	89864020	G	A	POLG	c.2958C>T	NM_002693.2	NP_002684.1:p.(Tyr986=)	NC_000015.9:g.89864020G>A	(Likely) benign	2 labs	3f2335a131
1:3328306 PRDM16 G>A	1	3328306	3328306	G	A	PRDM16	c.1545G>A	NM_022114.3	NP_071397.3:p.(Pro515=)	NC_000001.10:g.3328306G>A	(Likely) benign	2 labs	3f2a537028
17:7907247 GUCY2D G>C	17	7907247	7907247	G	C	GUCY2D	c.799G>C	NM_000180.3	NP_000171.1:p.(Gly267Arg)	NC_000017.10:g.7907247G>C	VUS	2 labs	3f2bbcff63
20:10632791 JAG1 T>C	20	10632791	10632791	T	C	JAG1	c.994A>G	NM_000214.3	NP_000205.1:p.(Asn332Asp)	NC_000020.10:g.10632791T>C	VUS	4 labs	3f2e31a93f
X:54842023 MAGED2 G>A	X	54842023	54842023	G	A	MAGED2	c.1729G>A	NM_177433.2	NP_803182.1:p.(Ala577Thr)	NC_000023.10:g.54842023G>A	(Likely) benign	2 labs	3f36abf5d7
2:179398509 TTN C>A	2	179398509	179398509	C	A	TTN	c.102833G>T	NM_001267550.2	NP_001254479.2:p.(Gly34278Val)	NC_000002.11:g.179398509C>A	(Likely) benign	3 labs	3f2ef50c0e
1:152327436 FLG2 TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC>T	1	152327436	152327699	TGAACTTGACCCATGTTGACCATAGCCAGATGACTGACTTGAGCCAGAACCATGTTGGCCATAGCTAGACTGATGTGATCTAGACTCATGTTGTCCAAAACCAGAGTATTGTCCTGAGCCAGTCCCATGTTGTCCAAAGCCACTGGACTGACCTGAGCCTGATCCATGTTGTCCAAAGCCAGAGTATTGACCTGAGCTTGACCTGTGTTGTCCAAAGCCAGATGTCTGTCCC	T	FLG2	c.2595_2825del	NM_001014342.3	NP_001014364.1:p.(Ser869_Thr945del)	NC_000001.10:g.152327469_152327699del	(Likely) benign	2 labs	ec6b2bb2ec
2:190044256 COL5A2 T>C	2	190044256	190044256	T	C	COL5A2	c.75A>G	NM_000393.5	NP_000384.2:p.(Lys25=)	NC_000002.11:g.190044256T>C	(Likely) benign	3 labs	3f409060b6
10:81319184 SFTPA2 G>A	10	81319184	81319184	G	A	SFTPA2	c.56C>T	NM_001098668.3	NP_001092138.1:p.(Ala19Val)	NC_000010.10:g.81319184G>A	(Likely) benign	2 labs	3f4d3a2caf
1:3334555 PRDM16 C>A	1	3334555	3334555	C	A	PRDM16	c.2855C>A	NM_022114.4	NP_071397.3:p.(Thr952Lys)	NC_000001.10:g.3334555C>A	VUS	6 labs	ec6e602bae
11:71155266 DHCR7 G>A	11	71155266	71155266	G	A	DHCR7	c.99-5C>T	NM_001360.2	NP_001351.2:p.?	NC_000011.9:g.71155266G>A	(Likely) benign	2 labs	3f582c3d95
20:32031313 SNTA1 G>A	20	32031313	32031313	G	A	SNTA1	c.114C>T	NM_003098.3	NP_003089.1:p.(Asp38=)	NC_000020.10:g.32031313G>A	(Likely) benign	3 labs	3f5141c60b
1:227071600 PSEN2 C>T	1	227071600	227071600	C	T	PSEN2	c.336C>T	NM_000447.3	NP_000438.2:p.(Tyr112=)	NC_000001.10:g.227071600C>T	(Likely) benign	4 labs	ec6ef47dd5
18:34273358 FHOD3 C>A	18	34273358	34273358	C	A	FHOD3	c.2208C>A	NM_001281740.3	NP_001268669.1:p.(Ser736=)	NC_000018.9:g.34273358C>A	(Likely) benign	2 labs	3f64715ca7
6:132168996 ENPP1 G>GGTGT	6	132168996	132169034	G	GGTGT	ENPP1	c.313+43_313+46dup	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132169031_132169034dup	(Likely) benign	3 labs	3f65f887f7
21:47423637 COL6A1 G>A	21	47423637	47423637	G	A	COL6A1	c.2797G>A	NM_001848.2	NP_001839.2:p.(Gly933Ser)	NC_000021.8:g.47423637G>A	(Likely) benign	2 labs	3f67730c52
2:179589277 TTN C>T	2	179589277	179589277	C	T	TTN	c.20837-12G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179589277C>T	(Likely) benign	3 labs	3f6b5438f9
1:168274298 TBX19 CA>C	1	168274298	168274300	CA	C	TBX19	c.782del	NM_005149.3	NP_005140.1:p.(Asn261IlefsTer46)	NC_000001.10:g.168274300del	(Likely) pathogenic	2 labs	3f6ff805ab
16:53656275 RPGRIP1L CA>C	16	53656275	53656291	CA	C	RPGRIP1L	c.3295-8del	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53656291del	(Likely) benign	3 labs	3f722a810a
X:54069198 PHF8 G>T	X	54069198	54069198	G	T	PHF8	c.72C>A	NM_001184896.1	NP_001171825.1:p.(Asn24Lys)	NC_000023.10:g.54069198G>T	(Likely) benign	2 labs	3f7b614139
14:102964064 TECPR2 C>A	14	102964064	102964064	C	A	TECPR2	c.4081+8C>A	NM_014844.4	NP_055659.2:p.?	NC_000014.8:g.102964064C>A	(Likely) benign	2 labs	3f845d14bc
16:88802579 PIEZO1 G>A	16	88802579	88802579	G	A	PIEZO1	c.1534C>T	NM_001142864.4	NP_001136336.2:p.(Pro512Ser)	NC_000016.9:g.88802579G>A	VUS	2 labs	ec740d063c
17:41243776 BRCA1 CCT>C	17	41243776	41243780	CCT	C	BRCA1	c.3770_3771del	NM_007294.4	NP_009225.1:p.(Glu1257GlyfsTer9)	NC_000017.10:g.41243779_41243780del	(Likely) pathogenic	3 labs	3f8a652778
X:48458737 WDR13 G>A	X	48458737	48458737	G	A	WDR13	c.278G>A	NM_001166426.3	NP_001159898.1:p.(Arg93Gln)	NC_000023.10:g.48458737G>A	VUS	2 labs	3f8caac27e
8:6303025 MCPH1 G>A	8	6303025	6303025	G	A	MCPH1	c.1782G>A	NM_024596.4	NP_078872.2:p.(Thr594=)	NC_000008.10:g.6303025G>A	(Likely) benign	2 labs	3f9839615f
12:49440418 KMT2D G>T	12	49440418	49440418	G	T	KMT2D	c.4392C>A	NM_003482.3	NP_003473.3:p.(Val1464=)	NC_000012.11:g.49440418G>T	(Likely) benign	2 labs	3fa3d7fce5
17:29548884 NF1 A>G	17	29548884	29548884	A	G	NF1	c.1658A>G	NM_000267.3	NP_000258.1:p.(His553Arg)	NC_000017.10:g.29548884A>G	(Likely) pathogenic	2 labs	3fa63c4c92
2:169789016 ABCB11 T>C	2	169789016	169789016	T	C	ABCB11	c.3084A>G	NM_003742.4	NP_003733.2:p.(Ala1028=)	NC_000002.11:g.169789016T>C	(Likely) benign	2 labs	ec87220b27
20:31024260 ASXL1 A>G	20	31024260	31024260	A	G	ASXL1	c.3745A>G	NM_015338.5	NP_056153.2:p.(Met1249Val)	NC_000020.10:g.31024260A>G	(Likely) benign	2 labs	3fae036f68
12:88548133 TMTC3 T>C	12	88548133	88548133	T	C	TMTC3	c.477T>C	NM_181783.4	NP_861448.2:p.(Tyr159=)	NC_000012.11:g.88548133T>C	(Likely) benign	2 labs	3fac59d014
X:13771576 OFD1 A>G	X	13771576	13771576	A	G	OFD1	c.1129+16A>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13771576A>G	(Likely) benign	4 labs	3fb63b89b4
22:19868190 TXNRD2 C>G	22	19868190	19868190	C	G	TXNRD2	c.1137G>C	NM_006440.5	NP_006431.2:p.(Val379=)	NC_000022.10:g.19868190C>G	(Likely) benign	2 labs	3fb65d582f
1:151786040 RORC G>A	1	151786040	151786040	G	A	RORC	c.927C>T	NM_001001523.1	NP_001001523.1:p.(Tyr309=)	NC_000001.10:g.151786040G>A	(Likely) benign	2 labs	3fc9d4330d
12:33049621 PKP2 G>A	12	33049621	33049621	G	A	PKP2	c.45C>T	NM_004572.4	NP_004563.2:p.(Thr15=)	NC_000012.11:g.33049621G>A	(Likely) benign	2 labs	ec9d32e7f5
8:61750316 CHD7 C>T	8	61750316	61750316	C	T	CHD7				NC_000008.10:g.61750316C>T	(Likely) benign	2 labs	3fe687b742
3:52486213 TNNC1 G>A	3	52486213	52486213	G	A	TNNC1	c.111C>T	NM_003280.3	NP_003271.1:p.(Ser37=)	NC_000003.11:g.52486213G>A	(Likely) benign	2 labs	eca27c5a52
8:55541450 RP1 G>A	8	55541450	55541450	G	A	RP1	c.5008G>A	NM_006269.2	NP_006260.1:p.(Ala1670Thr)	NC_000008.10:g.55541450G>A	(Likely) benign	3 labs	ecae367935
10:56287647 PCDH15 G>A	10	56287647	56287647	G	A	PCDH15	c.107-10C>T	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.56287647G>A	(Likely) benign	2 labs	3fef2ef050
11:76873225 MYO7A A>G	11	76873225	76873225	A	G	MYO7A	c.1403A>G	NM_000260.3	NP_000251.3:p.(His468Arg)	NC_000011.9:g.76873225A>G	VUS	3 labs	3ffd66f0c0
17:59821814 BRIP1 T>C	17	59821814	59821814	T	C	BRIP1	c.2236A>G	NM_032043.2	NP_114432.2:p.(Ile746Val)	NC_000017.10:g.59821814T>C	(Likely) benign	4 labs	3ffeaf2370
11:613978 IRF7 C>T	11	613978	613978	C	T	IRF7	c.778G>A	NM_004031.3	NP_004022.2:p.(Gly260Arg)	NC_000011.9:g.613978C>T	(Likely) benign	2 labs	4003e16bb2
X:53270957 IQSEC2 T>C	X	53270957	53270957	T	C	IQSEC2	c.3015+9A>G	NM_001111125.2	NP_001104595.1:p.?	NC_000023.10:g.53270957T>C	(Likely) benign	2 labs	400eb2c9d0
1:114391219 PTPN22 T>C	1	114391219	114391219	T	C	PTPN22	c.858A>G	NM_015967.6	NP_057051.3:p.(Val286=)	NC_000001.10:g.114391219T>C	(Likely) benign	2 labs	401270e2ec
16:2161150 PKD1 G>A	16	2161150	2161150	G	A	PKD1	c.4018C>T	NM_001009944.2	NP_001009944.2:p.(Arg1340Trp)	NC_000016.9:g.2161150G>A	(Likely) benign	3 labs	4028f2b1b3
X:21609159 CNKSR2 C>T	X	21609159	21609159	C	T	CNKSR2	c.1677C>T	NM_014927.4	NP_055742.2:p.(Ser559=)	NC_000023.10:g.21609159C>T	(Likely) benign	2 labs	402fab5f7a
16:50750842 NOD2 A>G	16	50750842	50750842	A	G	NOD2	c.2587A>G	NM_022162.1	NP_071445.1:p.(Met863Val)	NC_000016.9:g.50750842A>G	(Likely) benign	2 labs	4034b6ea46
12:2794921 CACNA1C G>A	12	2794921	2794921	G	A	CACNA1C	c.5842G>A	NM_199460.4	NP_955630.3:p.(Glu1948Lys)	NC_000012.11:g.2794921G>A	(Likely) benign	3 labs	4032b068bd
17:41215328 BRCA1 G>A	17	41215328	41215328	G	A	BRCA1	c.5193+22C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215328G>A	(Likely) benign	2 labs	403ea9f166
13:32890589 BRCA2 T>C	13	32890589	32890589	T	C	BRCA2	c.-9T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890589T>C	(Likely) benign	2 labs	403eabb724
18:42530796 SETBP1 G>A	18	42530796	42530796	G	A	SETBP1	c.1491G>A	NM_015559.3	NP_056374.2:p.(Pro497=)	NC_000018.9:g.42530796G>A	(Likely) benign	2 labs	406b76037a
11:67800633 NDUFS8 G>A	11	67800633	67800633	G	A	NDUFS8	c.255G>A	NM_002496.4	NP_002487.1:p.(Pro85=)	NC_000011.9:g.67800633G>A	(Likely) benign	2 labs	406e626fd7
13:103520471 ERCC5 C>T	13	103520471	103520471	C	T	ERCC5	c.2542C>T	NM_000123.3	NP_000114.2:p.(Arg848Trp)	NC_000013.10:g.103520471C>T	VUS	2 labs	4073f7260f
15:63335110 TPM1 G>A	15	63335110	63335110	G	A	TPM1	c.82G>A	NM_001018004.2	NP_001018004.1:p.(Asp28Asn)	NC_000015.9:g.63335110G>A	VUS	2 labs	408107eafd
2:26686384 OTOF G>A	2	26686384	26686384	G	A	OTOF	c.5159C>T	NM_194248.2	NP_919224.1:p.(Thr1720Met)	NC_000002.11:g.26686384G>A	VUS	2 labs	40859f726b
13:32911042 BRCA2 A>G	13	32911042	32911042	A	G	BRCA2	c.2550A>G	NM_000059.3	NP_000050.2:p.(Gln850=)	NC_000013.10:g.32911042A>G	(Likely) benign	3 labs	40867cd11d
1:103385867 COL11A1 C>A	1	103385867	103385867	C	A	COL11A1	c.3762G>T	NM_001854.4	NP_001845.3:p.(Lys1254Asn)	NC_000001.10:g.103385867C>A	(Likely) pathogenic	2 labs	ecbf2bac0a
17:59770797 BRIP1 T>C	17	59770797	59770797	T	C	BRIP1	c.2569A>G	NM_032043.3	NP_114432.2:p.(Ile857Val)	NC_000017.10:g.59770797T>C	VUS	2 labs	ecbf341056
21:47848350 PCNT G>A	21	47848350	47848350	G	A	PCNT	c.7536G>A	NM_006031.5	NP_006022.3:p.(Pro2512=)	NC_000021.8:g.47848350G>A	(Likely) benign	2 labs	408cd59b5b
6:65301734 EYS G>A	6	65301734	65301734	G	A	EYS	c.4026C>T	NM_001142800.1	NP_001136272.1:p.(Ser1342=)	NC_000006.11:g.65301734G>A	(Likely) benign	2 labs	408d587d73
20:19956094 RIN2 C>A	20	19956094	19956094	C	A	RIN2	c.1572C>A	NM_001242581.2	NP_001229510.1:p.(Pro524=)	NC_000020.10:g.19956094C>A	(Likely) benign	2 labs	4087f46da6
6:112480077 LAMA4 C>T	6	112480077	112480077	C	T	LAMA4	c.1674G>A	NM_001105206.3	NP_001098676.2:p.(Ala558=)	NC_000006.11:g.112480077C>T	(Likely) benign	4 labs	ecc01b10d1
1:236912580 ACTN2 C>T	1	236912580	236912580	C	T	ACTN2	c.1032+16C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236912580C>T	(Likely) benign	2 labs	ecc1a4388b
5:112175528 APC A>G	5	112175528	112175528	A	G	APC				NC_000005.9:g.112175528A>G	(Likely) benign	2 labs	40a045dbde
3:184049774 EIF4G1 G>A	3	184049774	184049774	G	A	EIF4G1	c.4521G>A	NM_182917.4	NP_886553.3:p.(Ala1507=)	NC_000003.11:g.184049774G>A	(Likely) benign	2 labs	40a5c6eadb
1:15888681 DNAJC16 A>C	1	15888681	15888681	A	C	DNAJC16	c.1199A>C	NM_015291.4	NP_056106.1:p.(Lys400Thr)	NC_000001.10:g.15888681A>C	(Likely) benign	2 labs	40a4e12bd8
22:36698665 MYH9 G>A	22	36698665	36698665	G	A	MYH9	c.2448C>T	NM_002473.5	NP_002464.1:p.(Cys816=)	NC_000022.10:g.36698665G>A	(Likely) benign	2 labs	40a567b6c4
X:29973764 IL1RAPL1 C>G	X	29973764	29973764	C	G	IL1RAPL1	c.1918C>G	NM_014271.3	NP_055086.1:p.(Leu640Val)	NC_000023.10:g.29973764C>G	VUS	2 labs	40a70c4856
11:121036097 TECTA G>A	11	121036097	121036097	G	A	TECTA	c.5383+5G>A	NM_005422.2	NP_005413.2:p.?	NC_000011.9:g.121036097G>A	(Likely) pathogenic	2 labs	40b4b94053
X:48762196 SLC35A2 G>A	X	48762196	48762196	G	A	SLC35A2	c.1074C>T	NM_001282651.1	NP_001269580.1:p.(Leu358=)	NC_000023.10:g.48762196G>A	(Likely) benign	2 labs	40ba1b144e
10:67829127 CTNNA3 C>T	10	67829127	67829127	C	T	CTNNA3	c.2098G>A	NM_013266.4	NP_037398.2:p.(Asp700Asn)	NC_000010.10:g.67829127C>T	VUS	2 labs	40cb84df14
7:151875047 KMT2C G>A	7	151875047	151875047	G	A	KMT2C	c.7491C>T	NM_170606.2	NP_733751.2:p.(Arg2497=)	NC_000007.13:g.151875047G>A	(Likely) benign	2 labs	40c4f087c8
6:51907706 PKHD1 A>G	6	51907706	51907706	A	G	PKHD1	c.3048T>C	NM_138694.3	NP_619639.3:p.(Asn1016=)	NC_000006.11:g.51907706A>G	(Likely) benign	2 labs	40cf268273
11:47354364 MYBPC3 C>A	11	47354364	47354364	C	A	MYBPC3	c.3490+1G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354364C>A	(Likely) pathogenic	2 labs	40d9c16df2
11:108115727 ATM C>T	11	108115727	108115727	C	T	ATM	c.875C>T	NM_000051.4	NP_000042.3:p.(Pro292Leu)	NC_000011.9:g.108115727C>T	(Likely) pathogenic	4 labs	eccc7d5673
X:54048766 PHF8 A>T	X	54048766	54048766	A	T	PHF8	c.219T>A	NM_015107.2	NP_055922.1:p.(Asp73Glu)	NC_000023.10:g.54048766A>T	(Likely) benign	2 labs	40e39c21a3
3:45965188 FYCO1 G>T	3	45965188	45965188	G	T	FYCO1	c.4321C>A	NM_024513.3	NP_078789.2:p.(Pro1441Thr)	NC_000003.11:g.45965188G>T	VUS	2 labs	40efd8d735
16:2161739 PKD1 G>A	16	2161739	2161739	G	A	PKD1	c.3429C>T	NM_001009944.2	NP_001009944.2:p.(Pro1143=)	NC_000016.9:g.2161739G>A	(Likely) benign	2 labs	40f8562c17
10:88439831 LDB3 T>A	10	88439831	88439831	T	A	LDB3	c.246-8T>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88439831T>A	(Likely) benign	2 labs	410b7f6abe
3:129282079 PLXND1 G>A	3	129282079	129282079	G	A	PLXND1	c.4526C>T	NM_015103.3	NP_055918.3:p.(Thr1509Met)	NC_000003.11:g.129282079G>A	VUS	2 labs	412d36ff05
15:23890248 MAGEL2 C>T	15	23890248	23890248	C	T	MAGEL2	c.2642G>A	NM_019066.5	NP_061939.3:p.(Arg881His)	NC_000015.9:g.23890248C>T	(Likely) benign	3 labs	ecd38002db
20:62319085 RTEL1 G>A	20	62319085	62319085	G	A	RTEL1	c.1443G>A	NM_001283009.2	NP_001269938.1:p.(Thr481=)	NC_000020.10:g.62319085G>A	(Likely) benign	2 labs	411d56f36a
7:128034536 IMPDH1 G>A	7	128034536	128034536	G	A	IMPDH1	c.1668C>T	NM_000883.4	NP_000874.2:p.(Ile556=)	NC_000007.13:g.128034536G>A	(Likely) benign	2 labs	41273141f8
13:32906446 BRCA2 T>G	13	32906446	32906446	T	G	BRCA2	c.831T>G	NM_000059.4	NP_000050.3:p.(Asn277Lys)	NC_000013.10:g.32906446T>G	(Likely) benign	7 labs	ecd9b2143e
5:171765711 SH3PXD2B CGAG>C	5	171765711	171765717	CGAG	C	SH3PXD2B	c.2395_2397del	NM_001017995.3	NP_001017995.1:p.(Leu799del)	NC_000005.9:g.171765715_171765717del	VUS	2 labs	41370065da
17:72916421 USH1G G>C	17	72916421	72916421	G	C	USH1G	c.510C>G	NM_173477.5	NP_775748.2:p.(Ala170=)	NC_000017.10:g.72916421G>C	(Likely) benign	2 labs	4131fe5f3d
X:110644335 DCX A>G	X	110644335	110644335	A	G	DCX	c.588T>C	NM_178153.2	NP_835366.1:p.(Arg196=)	NC_000023.10:g.110644335A>G	(Likely) benign	2 labs	4143e2b88f
20:61450653 COL9A3 C>T	20	61450653	61450653	C	T	COL9A3	c.255+8C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61450653C>T	(Likely) benign	2 labs	4147e00ade
17:29676211 NF1 CA>C	17	29676211	29676214	CA	C	NF1	c.7203del	NM_000267.3	NP_000258.1:p.(Lys2401AsnfsTer10)	NC_000017.10:g.29676214del	(Likely) pathogenic	2 labs	414cb0396b
12:31249819 DDX11 C>G	12	31249819	31249819	C	G	DDX11	c.1657C>G	NM_030653.3	NP_085911.2:p.(Gln553Glu)	NC_000012.11:g.31249819C>G	(Likely) benign	2 labs	414cdf2423
12:48380939 COL2A1 A>G	12	48380939	48380939	A	G	COL2A1	c.1287T>C	NM_001844.4	NP_001835.3:p.(Gly429=)	NC_000012.11:g.48380939A>G	(Likely) benign	2 labs	4155f5e60d
22:34000460 LARGE1 G>A	22	34000460	34000460	G	A	LARGE1	c.576C>T	NM_004737.5	NP_004728.1:p.(Pro192=)	NC_000022.10:g.34000460G>A	(Likely) benign	2 labs	415ae9e1be
11:47371490 MYBPC3 G>A	11	47371490	47371490	G	A	MYBPC3	c.506-17C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371490G>A	(Likely) benign	3 labs	415e4a873d
21:45919797 TSPEAR C>T	21	45919797	45919797	C	T	TSPEAR	c.1675G>A	NM_001272037.1	NP_001258966.1:p.(Val559Met)	NC_000021.8:g.45919797C>T	VUS	2 labs	41600ac18b
10:77795793 LRMDA G>A	10	77795793	77795793	G	A	LRMDA	c.75G>A	NM_032024.5	NP_114413.1:p.(Arg25=)	NC_000010.10:g.77795793G>A	(Likely) benign	2 labs	415b2d61f3
3:189690816 P3H2 G>GA	3	189690816	189690827	G	GA	P3H2	c.1549-4dup	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189690827dup	(Likely) benign	2 labs	41717cde9e
2:88895123 EIF2AK3 T>C	2	88895123	88895123	T	C	EIF2AK3	c.497A>G	NM_004836.7	NP_004827.4:p.(Gln166Arg)	NC_000002.11:g.88895123T>C	(Likely) benign	3 labs	ece3858d19
7:128481386 FLNC T>G	7	128481386	128481386	T	G	FLNC	c.1976T>G	NM_001458.4	NP_001449.3:p.(Leu659Arg)	NC_000007.13:g.128481386T>G	(Likely) benign	2 labs	4184151b51
X:128631896 SMARCA1 G>C	X	128631896	128631896	G	C	SMARCA1	c.1430C>G	NM_003069.5	NP_003060.2:p.(Thr477Ser)	NC_000023.10:g.128631896G>C	VUS	2 labs	418757e54d
7:2625906 IQCE TTGTCCCGGAG>T	7	2625906	2625921	TTGTCCCGGAG	T	IQCE	c.895_904del	NM_152558.5	NP_689771.3:p.(Val301SerfsTer8)	NC_000007.13:g.2625912_2625921del	(Likely) pathogenic	2 labs	419220df1d
11:17655765 OTOG CG>C	11	17655765	17655766	CG	C	OTOG	c.7418del	NM_001292063.2	NP_001278992.1:p.(Arg2473HisfsTer77)	NC_000011.9:g.17655766del	(Likely) pathogenic	2 labs	41a5646dfc
17:41201179 BRCA1 C>A	17	41201179	41201179	C	A	BRCA1	c.5365G>T	NM_007294.3	NP_009225.1:p.(Ala1789Ser)	NC_000017.10:g.41201179C>A	(Likely) benign	3 labs	41a81dc0c6
12:52757038 KRT85 G>A	12	52757038	52757038	G	A	KRT85	c.943C>T	NM_002283.4	NP_002274.1:p.(Arg315Cys)	NC_000012.11:g.52757038G>A	VUS	2 labs	41ad2bde57
2:179605843 TTN G>A	2	179605843	179605843	G	A	TTN	c.12117C>T	NM_001267550.2	NP_001254479.2:p.(Pro4039=)	NC_000002.11:g.179605843G>A	(Likely) benign	5 labs	ecebf6a4b2
19:38989817 RYR1 A>G	19	38989817	38989817	A	G	RYR1	c.6961A>G	NM_000540.2	NP_000531.2:p.(Ile2321Val)	NC_000019.9:g.38989817A>G	VUS	2 labs	41b0e69ed5
12:6230446 VWF G>A	12	6230446	6230446	G	A	VWF	c.114C>T	NM_000552.3	NP_000543.2:p.(Phe38=)	NC_000012.11:g.6230446G>A	(Likely) benign	3 labs	41c14ac75e
10:69959338 MYPN G>T	10	69959338	69959338	G	T	MYPN	c.3493+6G>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69959338G>T	(Likely) benign	2 labs	41bccea269
X:66765158 AR TGCA>T	X	66765158	66765227	TGCA	T	AR	c.237_239del	NM_000044.6	NP_000035.2:p.(Gln80del)	NC_000023.10:g.66765225_66765227del	(Likely) benign	4 labs	41c0794236
15:51204364 AP4E1 G>A	15	51204364	51204364	G	A	AP4E1	c.-27+18G>A	NM_001252127.2	NP_001239056.1:p.?	NC_000015.9:g.51204364G>A	(Likely) benign	2 labs	41c77d883d
11:117857257 IL10RA T>C	11	117857257	117857257	T	C	IL10RA	c.67+8T>C	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117857257T>C	(Likely) benign	2 labs	41ca3dcddd
X:103045491 PLP1 G>A	X	103045491	103045491	G	A	PLP1	c.799G>A	NM_001128834.2	NP_001122306.1:p.(Val267Ile)	NC_000023.10:g.103045491G>A	(Likely) benign	2 labs	41cdb30a7e
10:13330395 PHYH C>T	10	13330395	13330395	C	T	PHYH	c.343G>A	NM_001037537.2	NP_001032626.1:p.(Gly115Ser)	NC_000010.10:g.13330395C>T	(Likely) benign	2 labs	41c476e43f
7:146829473 CNTNAP2 A>G	7	146829473	146829473	A	G	CNTNAP2	c.1220A>G	NM_014141.6	NP_054860.1:p.(Asn407Ser)	NC_000007.13:g.146829473A>G	(Likely) benign	3 labs	41ceefda74
17:73836153 UNC13D G>T	17	73836153	73836153	G	T	UNC13D	c.897C>A	NM_199242.3	NP_954712.1:p.(Thr299=)	NC_000017.10:g.73836153G>T	(Likely) benign	2 labs	41dad15b9e
10:75874667 VCL A>T	10	75874667	75874667	A	T	VCL	c.3258+10A>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75874667A>T	(Likely) benign	4 labs	41e243b762
4:39233530 WDR19 G>A	4	39233530	39233530	G	A	WDR19	c.2096G>A	NM_025132.3	NP_079408.3:p.(Arg699Gln)	NC_000004.11:g.39233530G>A	(Likely) benign	2 labs	41df36c781
2:179501288 TTN G>A	2	179501288	179501288	G	A	TTN	c.41166C>T	NM_001267550.2	NP_001254479.2:p.(Asp13722=)	NC_000002.11:g.179501288G>A	(Likely) benign	3 labs	41de0116f6
1:154842199 KCNN3 G>GGCTGCTGCTGCTGCTGCTGCT	1	154842199	154842242	G	GGCTGCTGCTGCTGCTGCTGCT	KCNN3	c.221_241dup	NM_002249.6	NP_002240.3:p.(Gln74_Gln80dup)	NC_000001.10:g.154842222_154842242dup	(Likely) benign	3 labs	ed040c7117
14:23898464 MYH7 C>T	14	23898464	23898464	C	T	MYH7	c.1231G>A	NM_000257.4	NP_000248.2:p.(Val411Ile)	NC_000014.8:g.23898464C>T	(Likely) pathogenic	2 labs	ed08fb235d
7:2954999 CARD11 C>T	7	2954999	2954999	C	T	CARD11	c.2711G>A	NM_001324281.1	NP_001311210.1:p.(Ser904Asn)	NC_000007.13:g.2954999C>T	VUS	2 labs	41f4dd084f
1:17332025 ATP13A2 T>C	1	17332025	17332025	T	C	ATP13A2	c.132A>G	NM_022089.4	NP_071372.1:p.(Pro44=)	NC_000001.10:g.17332025T>C	(Likely) benign	2 labs	41fd464aaa
19:11222214 LDLR A>C	19	11222214	11222214	A	C	LDLR	c.1085A>C	NM_000527.5	NP_000518.1:p.(Asp362Ala)	NC_000019.9:g.11222214A>C	VUS	2 labs	ed09d7e172
11:67225863 CABP4 C>T	11	67225863	67225863	C	T	CABP4	c.358C>T	NM_001300895.1	NP_001287824.1:p.(Arg120Ter)	NC_000011.9:g.67225863C>T	(Likely) pathogenic	2 labs	421311a606
2:47641477 MSH2 C>T	2	47641477	47641477	C	T	MSH2	c.862C>T	NM_000251.2	NP_000242.1:p.(Gln288Ter)	NC_000002.11:g.47641477C>T	(Likely) pathogenic	2 labs	4217f02e1d
4:15539594 CC2D2A G>A	4	15539594	15539594	G	A	CC2D2A	c.1837G>A	NM_001080522.2	NP_001073991.2:p.(Glu613Lys)	NC_000004.11:g.15539594G>A	(Likely) benign	2 labs	421d2e8324
21:46875774 COL18A1 C>T	21	46875774	46875774	C	T	COL18A1	c.107-12382C>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875774C>T	(Likely) benign	2 labs	4222736b9c
8:41790786 KAT6A G>A	8	41790786	41790786	G	A	KAT6A	c.4952C>T	NM_006766.4	NP_006757.2:p.(Pro1651Leu)	NC_000008.10:g.41790786G>A	(Likely) benign	2 labs	42298c8568
5:131705800 SLC22A5 C>T	5	131705800	131705800	C	T	SLC22A5	c.136C>T	NM_003060.4	NP_003051.1:p.(Pro46Ser)	NC_000005.9:g.131705800C>T	(Likely) pathogenic	5 labs	422bab5dc2
12:42858882 PRICKLE1 G>C	12	42858882	42858882	G	C	PRICKLE1	c.954C>G	NM_153026.2	NP_694571.2:p.(Ser318=)	NC_000012.11:g.42858882G>C	(Likely) benign	2 labs	422d5572fc
16:3304532 MEFV C>T	16	3304532	3304532	C	T	MEFV	c.536G>A	NM_000243.2	NP_000234.1:p.(Ser179Asn)	NC_000016.9:g.3304532C>T	VUS	2 labs	422eb258ec
5:1272370 TERT G>A	5	1272370	1272370	G	A	TERT	c.2312C>T	NM_198253.2	NP_937983.2:p.(Pro771Leu)	NC_000005.9:g.1272370G>A	(Likely) pathogenic	2 labs	4231fd2da5
12:80665473 OTOGL C>T	12	80665473	80665473	C	T	OTOGL	c.2537C>T	NM_173591.3	NP_775862.3:p.(Pro846Leu)	NC_000012.11:g.80665473C>T	VUS	2 labs	42325521cb
10:92677497 ANKRD1 G>A	10	92677497	92677497	G	A	ANKRD1	c.544C>T	NM_014391.3	NP_055206.2:p.(Arg182Cys)	NC_000010.10:g.92677497G>A	VUS	2 labs	ed216ef357
1:43394666 SLC2A1 G>A	1	43394666	43394666	G	A	SLC2A1	c.1011C>T	NM_006516.4	NP_006507.2:p.(His337=)	NC_000001.10:g.43394666G>A	(Likely) benign	4 labs	423d879b92
2:48033627 MSH6 C>T	2	48033627	48033627	C	T	MSH6	c.3838C>T	NM_000179.3	NP_000170.1:p.(Gln1280Ter)	NC_000002.11:g.48033627C>T	(Likely) pathogenic	4 labs	423ebfdda0
22:19906454 TXNRD2 T>C	22	19906454	19906454	T	C	TXNRD2	c.303A>G	NM_006440.5	NP_006431.2:p.(Ala101=)	NC_000022.10:g.19906454T>C	(Likely) benign	2 labs	42470ccc07
X:127185455 ACTRT1 G>A	X	127185455	127185455	G	A	ACTRT1	c.731C>T	NM_138289.3	NP_612146.1:p.(Pro244Leu)	NC_000023.10:g.127185455G>A	VUS	2 labs	4249cc705e
12:8975820 A2ML1 C>T	12	8975820	8975820	C	T	A2ML1	c.105C>T	NM_144670.5	NP_653271.2:p.(Ser35=)	NC_000012.11:g.8975820C>T	(Likely) benign	2 labs	424ed2a990
2:47630511 MSH2 C>T	2	47630511	47630511	C	T	MSH2	c.181C>T	NM_000251.2	NP_000242.1:p.(Gln61Ter)	NC_000002.11:g.47630511C>T	(Likely) pathogenic	3 labs	42542bdd9d
12:103246708 PAH G>A	12	103246708	103246708	G	A	PAH	c.727C>T	NM_000277.3	NP_000268.1:p.(Arg243Ter)	NC_000012.11:g.103246708G>A	(Likely) pathogenic	4 labs	425e561f5f
19:38778569 SPINT2 C>T	19	38778569	38778569	C	T	SPINT2	c.331C>T	NM_021102.3	NP_066925.1:p.(Pro111Ser)	NC_000019.9:g.38778569C>T	(Likely) benign	2 labs	425ce25d1c
2:179431841 TTN C>A	2	179431841	179431841	C	A	TTN	c.79018G>T	NM_001267550.2	NP_001254479.2:p.(Glu26340Ter)	NC_000002.11:g.179431841C>A	(Likely) pathogenic	2 labs	ed27b33b4e
1:237870334 RYR2 C>T	1	237870334	237870334	C	T	RYR2	c.9666C>T	NM_001035.2	NP_001026.2:p.(Ala3222=)	NC_000001.10:g.237870334C>T	(Likely) benign	2 labs	425f102aac
4:15539779 CC2D2A C>T	4	15539779	15539779	C	T	CC2D2A	c.2003+19C>T	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15539779C>T	(Likely) benign	3 labs	4269fd8236
1:78383927 NEXN T>C	1	78383927	78383927	T	C	NEXN	c.416T>C	NM_144573.4	NP_653174.3:p.(Ile139Thr)	NC_000001.10:g.78383927T>C	VUS	4 labs	427302a21e
9:126118544 CRB2 C>T	9	126118544	126118544	C	T	CRB2	c.5C>T	NM_173689.6	NP_775960.4:p.(Ala2Val)	NC_000009.11:g.126118544C>T	(Likely) benign	3 labs	427e505315
12:2693676 CACNA1C A>C	12	2693676	2693676	A	C	CACNA1C	c.2232A>C	NM_000719.7	NP_000710.5:p.(Leu744=)	NC_000012.11:g.2693676A>C	(Likely) benign	4 labs	ed4316f855
4:5755524 EVC G>A	4	5755524	5755524	G	A	EVC	c.1328G>A	NM_153717.3	NP_714928.1:p.(Arg443Gln)	NC_000004.11:g.5755524G>A	(Likely) benign	3 labs	ed4581f39b
5:40934549 C7 G>A	5	40934549	40934549	G	A	C7	c.261G>A	NM_000587.2	NP_000578.2:p.(Glu87=)	NC_000005.9:g.40934549G>A	(Likely) benign	2 labs	4297fee042
X:55172638 VCF2 T>G	X	55172638	55172638	T	G	VCF2	c.224A>C	NM_001166703.1	NP_001160175.1:p.(Asn75Thr)	NC_000023.10:g.55172638T>G	(Likely) benign	2 labs	4298be95af
9:139333049 INPP5E GCCCT>G	9	139333049	139333057	GCCCT	G	INPP5E	c.812+7_812+10del	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139333054_139333057del	(Likely) benign	2 labs	429cc32706
20:31016119 ASXL1 C>T	20	31016119	31016119	C	T	ASXL1	c.374-9C>T	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.31016119C>T	(Likely) benign	4 labs	429d141ac2
16:2154492 PKD1 G>A	16	2154492	2154492	G	A	PKD1	c.8161+7C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2154492G>A	(Likely) benign	3 labs	429eb81fea
5:1278895 TERT G>A	5	1278895	1278895	G	A	TERT	c.2147C>T	NM_198253.2	NP_937983.2:p.(Ala716Val)	NC_000005.9:g.1278895G>A	(Likely) pathogenic	2 labs	42a84e3041
2:166866332 SCN1A G>A	2	166866332	166866332	G	A	SCN1A	c.3899C>T	NM_001165963.4	NP_001159435.1:p.(Thr1300Ile)	NC_000002.11:g.166866332G>A	(Likely) benign	2 labs	ed4a07345e
17:56350827 MPO GGGGTTGGGTTCCAT>G	17	56350827	56350844	GGGGTTGGGTTCCAT	G	MPO	c.1555_1568del	NM_000250.2	NP_000241.1:p.(Met519ProfsTer21)	NC_000017.10:g.56350831_56350844del	(Likely) pathogenic	2 labs	42bcf66223
16:2161599 PKD1 C>T	16	2161599	2161599	C	T	PKD1	c.3569G>A	NM_001009944.2	NP_001009944.2:p.(Arg1190His)	NC_000016.9:g.2161599C>T	(Likely) benign	2 labs	42be6c4cc0
5:251178 SDHA G>A	5	251178	251178	G	A	SDHA	c.1623G>A	NM_004168.4	NP_004159.2:p.(Lys541=)	NC_000005.9:g.251178G>A	(Likely) benign	4 labs	42c686daec
2:179659108 TTN T>C	2	179659108	179659108	T	C	TTN	c.1398+18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659108T>C	(Likely) benign	6 labs	ed4cd26b6f
3:11058903 SLC6A1 G>A	3	11058903	11058903	G	A	SLC6A1	c.6G>A	NM_003042.3	NP_003033.3:p.(Ala2=)	NC_000003.11:g.11058903G>A	(Likely) benign	2 labs	42cd9ad464
15:89872227 POLG G>A	15	89872227	89872227	G	A	POLG	c.970C>T	NM_002693.3	NP_002684.1:p.(Pro324Ser)	NC_000015.9:g.89872227G>A	(Likely) benign	4 labs	42d57af782
10:12129639 DHTKD1 G>T	10	12129639	12129639	G	T	DHTKD1	c.628G>T	NM_018706.7	NP_061176.4:p.(Ala210Ser)	NC_000010.10:g.12129639G>T	(Likely) benign	3 labs	ed51f07bc2
4:15539587 CC2D2A G>A	4	15539587	15539587	G	A	CC2D2A	c.1830G>A	NM_001080522.2	NP_001073991.2:p.(Pro610=)	NC_000004.11:g.15539587G>A	(Likely) benign	2 labs	42d26e6f75
5:77461480 AP3B1 T>C	5	77461480	77461480	T	C	AP3B1	c.1184A>G	NM_003664.4	NP_003655.3:p.(Asn395Ser)	NC_000005.9:g.77461480T>C	(Likely) benign	2 labs	42d92c3b68
5:149436950 CSF1R A>G	5	149436950	149436950	A	G	CSF1R	c.2222-3T>C	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149436950A>G	(Likely) benign	2 labs	42d0b18071
1:236918328 ACTN2 C>T	1	236918328	236918328	C	T	ACTN2	c.1984C>T	NM_001103.3	NP_001094.1:p.(Arg662Trp)	NC_000001.10:g.236918328C>T	VUS	2 labs	42dc96c396
15:51294832 AP4E1 G>A	15	51294832	51294832	G	A	AP4E1	c.3162G>A	NM_001252127.2	NP_001239056.1:p.(Gln1054=)	NC_000015.9:g.51294832G>A	(Likely) benign	2 labs	42e0b07aab
3:142222234 ATR A>G	3	142222234	142222234	A	G	ATR	c.5258T>C	NM_001184.3	NP_001175.2:p.(Ile1753Thr)	NC_000003.11:g.142222234A>G	VUS	2 labs	42e4ccea5b
5:73048875 ARHGEF28 A>G	5	73048875	73048875	A	G	ARHGEF28	c.323A>G	NM_001080479.2	NP_001073948.2:p.(Asn108Ser)	NC_000005.9:g.73048875A>G	(Likely) benign	2 labs	42ef2b20d0
7:33423280 BBS9 C>T	7	33423280	33423280	C	T	BBS9	c.1519C>T	NM_001348038.2	NP_001334967.1:p.(Arg507Ter)	NC_000007.13:g.33423280C>T	(Likely) pathogenic	2 labs	42fe136413
12:32793315 FGD4 G>A	12	32793315	32793315	G	A	FGD4	c.1117G>A	NM_001304484.2	NP_001291413.1:p.(Val373Met)	NC_000012.11:g.32793315G>A	VUS	2 labs	42f7308da1
19:10465233 TYK2 C>G	19	10465233	10465233	C	G	TYK2	c.2670G>C	NM_003331.4	NP_003322.3:p.(Thr890=)	NC_000019.9:g.10465233C>G	(Likely) benign	2 labs	430990704d
18:13884629 MC2R A>G	18	13884629	13884629	A	G	MC2R	c.889T>C	NM_001291911.1	NP_001278840.1:p.(Trp297Arg)	NC_000018.9:g.13884629A>G	(Likely) benign	2 labs	430d690929
10:68280453 CTNNA3 T>A	10	68280453	68280453	T	A	CTNNA3	c.1453A>T	NM_013266.4	NP_037398.2:p.(Thr485Ser)	NC_000010.10:g.68280453T>A	(Likely) benign	6 labs	43108eaeac
17:41215977 BRCA1 T>A	17	41215977	41215977	T	A	BRCA1	c.5075-9A>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215977T>A	(Likely) benign	2 labs	430efed285
18:28663010 DSC2 T>G	18	28663010	28663010	T	G	DSC2	c.959A>C	NM_024422.6	NP_077740.1:p.(Gln320Pro)	NC_000018.9:g.28663010T>G	VUS	2 labs	ed57e73936
19:7117384 INSR T>C	19	7117384	7117384	T	C	INSR	c.3832A>G	NM_000208.4	NP_000199.2:p.(Lys1278Glu)	NC_000019.9:g.7117384T>C	VUS	2 labs	ed5b86ca62
4:88986612 PKD2 GTTAAAC>G	4	88986612	88986620	GTTAAAC	G	PKD2	c.2208_2213del	NM_000297.4	NP_000288.1:p.(Leu736_Asn737del)	NC_000004.11:g.88986615_88986620del	VUS	3 labs	4328cbdc9a
16:10996577 CIITA C>T	16	10996577	10996577	C	T	CIITA	c.694C>T	NM_001286402.1	NP_001273331.1:p.(Pro232Ser)	NC_000016.9:g.10996577C>T	(Likely) benign	2 labs	43258fcda5
7:27237982 HOXA13 T>C	7	27237982	27237982	T	C	HOXA13	c.1002A>G	NM_000522.5	NP_000513.2:p.(Leu334=)	NC_000007.13:g.27237982T>C	(Likely) benign	2 labs	4325dbdbb8
16:2121811 TSC2 A>C	16	2121811	2121811	A	C	TSC2	c.1973A>C	NM_000548.5	NP_000539.2:p.(Lys658Thr)	NC_000016.9:g.2121811A>C	(Likely) benign	2 labs	ed6aa30216
X:47307055 ZNF41 C>T	X	47307055	47307055	C	T	ZNF41	c.2114G>A	NM_007130.3	NP_009061.1:p.(Arg705His)	NC_000023.10:g.47307055C>T	(Likely) benign	2 labs	433255cc94
12:21995390 ABCC9 A>G	12	21995390	21995390	A	G	ABCC9	c.3331T>C	NM_020297.2	NP_064693.2:p.(Leu1111=)	NC_000012.11:g.21995390A>G	(Likely) benign	2 labs	433c352ca7
14:23901857 MYH7 T>C	14	23901857	23901857	T	C	MYH7	c.493A>G	NM_000257.2	NP_000248.2:p.(Met165Val)	NC_000014.8:g.23901857T>C	VUS	2 labs	434108bd8c
1:45798112 MUTYH G>A	1	45798112	45798112	G	A	MUTYH	c.739C>T	NM_001128425.2	NP_001121897.1:p.(Arg247Ter)	NC_000001.10:g.45798112G>A	(Likely) pathogenic	4 labs	434c31f0d0
21:44476986 CBS C>T	21	44476986	44476986	C	T	CBS	c.1164G>A	NM_001321072.1	NP_001308001.1:p.(Thr388=)	NC_000021.8:g.44476986C>T	(Likely) benign	2 labs	434cbd8902
4:169799309 PALLD G>C	4	169799309	169799309	G	C	PALLD	c.267G>C	NM_001166110.2	NP_001159582.1:p.(Pro89=)	NC_000004.11:g.169799309G>C	(Likely) benign	2 labs	ed70274ae3
7:130040587 CEP41 A>C	7	130040587	130040587	A	C	CEP41	c.718T>G	NM_018718.2	NP_061188.1:p.(Cys240Gly)	NC_000007.13:g.130040587A>C	(Likely) benign	2 labs	434df17900
18:10671726 PIEZO2 C>T	18	10671726	10671726	C	T	PIEZO2	c.8057G>A	NM_022068.3	NP_071351.2:p.(Arg2686His)	NC_000018.9:g.10671726C>T	(Likely) pathogenic	2 labs	436999ecaa
5:41794160 OXCT1 A>G	5	41794160	41794160	A	G	OXCT1	c.1193T>C	NM_000436.3	NP_000427.1:p.(Met398Thr)	NC_000005.9:g.41794160A>G	VUS	2 labs	437d1eec2c
X:7268072 STS G>C	X	7268072	7268072	G	C	STS	c.1522G>C	NM_000351.5	NP_000342.2:p.(Asp508His)	NC_000023.10:g.7268072G>C	VUS	2 labs	4387cad73a
7:143018799 CLCN1 C>T	7	143018799	143018799	C	T	CLCN1	c.563-9C>T	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143018799C>T	(Likely) benign	2 labs	4390af64dc
5:156514243 HAVCR2 C>T	5	156514243	156514243	C	T	HAVCR2	c.776G>A	NM_032782.4	NP_116171.3:p.(Arg259His)	NC_000005.9:g.156514243C>T	(Likely) benign	2 labs	439373f49a
1:228474547 OBSCN C>T	1	228474547	228474547	C	T	OBSCN	c.10638C>T	NM_001271223.2	NP_001258152.2:p.(Cys3546=)	NC_000001.10:g.228474547C>T	(Likely) benign	2 labs	4399d1bac8
13:100637702 ZIC2 AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG>A	13	100637702	100637743	AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG	A	ZIC2	c.1377_1406del	NM_007129.5	NP_009060.2:p.(Ala461_Ala470del)	NC_000013.10:g.100637714_100637743del	VUS	2 labs	439f0a6bbb
20:50407072 SALL4 G>A	20	50407072	50407072	G	A	SALL4	c.1950C>T	NM_020436.3	NP_065169.1:p.(Gly650=)	NC_000020.10:g.50407072G>A	(Likely) benign	2 labs	439f2a41d5
13:32913705 BRCA2 C>T	13	32913705	32913705	C	T	BRCA2	c.5213C>T	NM_000059.4	NP_000050.3:p.(Thr1738Ile)	NC_000013.10:g.32913705C>T	(Likely) benign	2 labs	ed823fde99
8:67986538 CSPP1 C>T	8	67986538	67986538	C	T	CSPP1	c.159C>T	NM_024790.6	NP_079066.5:p.(Ala53=)	NC_000008.10:g.67986538C>T	(Likely) benign	2 labs	43a556a8ae
6:152730736 SYNE1 A>G	6	152730736	152730736	A	G	SYNE1	c.6339T>C	NM_182961.4	NP_892006.3:p.(Thr2113=)	NC_000006.11:g.152730736A>G	(Likely) benign	2 labs	43a830a087
11:19207878 CSRP3 C>T	11	19207878	19207878	C	T	CSRP3	c.299G>A	NM_003476.5	NP_003467.1:p.(Arg100His)	NC_000011.9:g.19207878C>T	(Likely) benign	4 labs	ed8657eb40
2:179593659 TTN T>C	2	179593659	179593659	T	C	TTN	c.19106A>G	NM_001267550.1	NP_001254479.1:p.(Glu6369Gly)	NC_000002.11:g.179593659T>C	VUS	2 labs	43b3ea2691
X:110980029 ALG13 G>C	X	110980029	110980029	G	C	ALG13	c.2383G>C	NM_001257231.1	NP_001244160.1:p.(Ala795Pro)	NC_000023.10:g.110980029G>C	(Likely) benign	2 labs	43b5f1e739
11:108188116 ATM G>C	11	108188116	108188116	G	C	ATM	c.6215G>C	NM_000051.4	NP_000042.3:p.(Gly2072Ala)	NC_000011.9:g.108188116G>C	VUS	3 labs	ed883e7245
5:127623039 FBN2 T>A	5	127623039	127623039	T	A	FBN2	c.6841A>T	NM_001999.3	NP_001990.2:p.(Ile2281Phe)	NC_000005.9:g.127623039T>A	(Likely) benign	2 labs	43bac1c7de
2:179659121 TTN C>T	2	179659121	179659121	C	T	TTN	c.1398+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659121C>T	(Likely) benign	4 labs	43b3d1196d
19:45992677 RTN2 C>T	19	45992677	45992677	C	T	RTN2	c.1168G>A	NM_005619.4	NP_005610.1:p.(Gly390Ser)	NC_000019.9:g.45992677C>T	(Likely) benign	2 labs	43c2643cde
X:47098476 USP11 G>C	X	47098476	47098476	G	C	USP11	c.313G>C	NM_004651.3	NP_004642.2:p.(Val105Leu)	NC_000023.10:g.47098476G>C	VUS	2 labs	43cb0cea61
1:116268138 CASQ2 A>G	1	116268138	116268138	A	G	CASQ2	c.774T>C	NM_001232.3	NP_001223.2:p.(Phe258=)	NC_000001.10:g.116268138A>G	(Likely) benign	2 labs	43cc2d03bc
16:3778591 CREBBP C>T	16	3778591	3778591	C	T	CREBBP	c.6457G>A	NM_004380.2	NP_004371.2:p.(Gly2153Ser)	NC_000016.9:g.3778591C>T	(Likely) benign	2 labs	43cf6ed548
1:236891071 ACTN2 C>T	1	236891071	236891071	C	T	ACTN2	c.-207+15C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236891071C>T	(Likely) benign	4 labs	ed91a98cb3
18:19437212 MIB1 G>A	18	19437212	19437212	G	A	MIB1	c.2779+8G>A	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19437212G>A	(Likely) benign	2 labs	43d0f33b45
X:122536945 GRIA3 G>A	X	122536945	122536945	G	A	GRIA3	c.1181G>A	NM_007325.4	NP_015564.4:p.(Arg394Gln)	NC_000023.10:g.122536945G>A	(Likely) benign	2 labs	43d1dfa057
19:42838372 MEGF8 C>T	19	42838372	42838372	C	T	MEGF8	c.558+7C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42838372C>T	(Likely) benign	2 labs	43d4532c10
11:9878045 SBF2 C>T	11	9878045	9878045	C	T	SBF2	c.2323G>A	NM_030962.4	NP_112224.1:p.(Gly775Ser)	NC_000011.9:g.9878045C>T	(Likely) benign	3 labs	43d42d56bb
3:93768268 ARL13B C>G	3	93768268	93768268	C	G	ARL13B	c.1043C>G	NM_001174150.2	NP_001167621.1:p.(Thr348Ser)	NC_000003.11:g.93768268C>G	(Likely) benign	2 labs	43d5eb63b1
13:32937554 BRCA2 G>A	13	32937554	32937554	G	A	BRCA2	c.8215G>A	NM_000059.4	NP_000050.3:p.(Val2739Ile)	NC_000013.10:g.32937554G>A	(Likely) benign	5 labs	ed91c82f8a
21:46927489 COL18A1 A>G	21	46927489	46927489	A	G	COL18A1	c.4467A>G	NM_130444.3	NP_569711.2:p.(Thr1489=)	NC_000021.8:g.46927489A>G	(Likely) benign	2 labs	43dd1589a3
14:102463407 DYNC1H1 A>G	14	102463407	102463407	A	G	DYNC1H1	c.3600A>G	NM_001376.5	NP_001367.2:p.(Gln1200=)	NC_000014.8:g.102463407A>G	(Likely) benign	4 labs	43e09da5ea
14:95566184 DICER1 C>T	14	95566184	95566184	C	T	DICER1	c.4139G>A	NM_030621.4	NP_085124.2:p.(Trp1380Ter)	NC_000014.8:g.95566184C>T	(Likely) pathogenic	2 labs	43e6b3a9b9
2:166900312 SCN1A G>A	2	166900312	166900312	G	A	SCN1A	c.1910C>T	NM_001202435.2	NP_001189364.1:p.(Ala637Val)	NC_000002.11:g.166900312G>A	(Likely) benign	2 labs	43ebdc89a8
5:90002172 ADGRV1 A>C	5	90002172	90002172	A	C	ADGRV1	c.8691A>C	NM_032119.4	NP_115495.3:p.(Glu2897Asp)	NC_000005.9:g.90002172A>C	(Likely) benign	3 labs	43e3169cb0
20:30450529 DUSP15 G>A	20	30450529	30450529	G	A	DUSP15	c.280C>T	NM_080611.4	NP_542178.2:p.(Arg94Cys)	NC_000020.10:g.30450529G>A	VUS	2 labs	43f3810523
16:4386814 GLIS2 T>C	16	4386814	4386814	T	C	GLIS2	c.864T>C	NM_032575.3	NP_115964.2:p.(Tyr288=)	NC_000016.9:g.4386814T>C	(Likely) benign	2 labs	eda9967f1e
1:227171484 COQ8A C>T	1	227171484	227171484	C	T	COQ8A	c.1185C>T	NM_020247.5	NP_064632.2:p.(Ile395=)	NC_000001.10:g.227171484C>T	(Likely) benign	4 labs	eda9e6f2fd
6:56765378 DST T>C	6	56765378	56765378	T	C	DST	c.258A>G	NM_001144769.5	NP_001138241.1:p.(Ala86=)	NC_000006.11:g.56765378T>C	(Likely) benign	3 labs	43fdf0a22f
4:1807890 FGFR3 A>T	4	1807890	1807890	A	T	FGFR3	c.1949A>T	NM_000142.5	NP_000133.1:p.(Lys650Met)	NC_000004.11:g.1807890A>T	(Likely) pathogenic	2 labs	4401346568
13:32914356 BRCA2 C>G	13	32914356	32914356	C	G	BRCA2	c.5864C>G	NM_000059.3	NP_000050.2:p.(Ser1955Ter)	NC_000013.10:g.32914356C>G	(Likely) pathogenic	2 labs	44043293fa
13:22255301 FGF9 C>T	13	22255301	22255301	C	T	FGF9	c.381+17C>T	NM_002010.3	NP_002001.1:p.?	NC_000013.10:g.22255301C>T	(Likely) benign	2 labs	edb2498417
X:70349635 MED12 G>A	X	70349635	70349635	G	A	MED12	c.3797G>A	NM_005120.2	NP_005111.2:p.(Arg1266His)	NC_000023.10:g.70349635G>A	(Likely) benign	3 labs	440b2889e7
3:148899784 CP G>A	3	148899784	148899784	G	A	CP	c.2554+8C>T	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148899784G>A	(Likely) benign	2 labs	4401f8c641
15:34544540 SLC12A6 G>A	15	34544540	34544540	G	A	SLC12A6	c.1164C>T	NM_133647.2	NP_598408.1:p.(Asp388=)	NC_000015.9:g.34544540G>A	(Likely) benign	3 labs	4409075063
7:128489561 FLNC G>A	7	128489561	128489561	G	A	FLNC	c.5128G>A	NM_001458.5	NP_001449.3:p.(Glu1710Lys)	NC_000007.13:g.128489561G>A	VUS	3 labs	4410471358
19:1226628 STK11 G>C	19	1226628	1226628	G	C	STK11	c.1284G>C	NM_000455.5	NP_000446.1:p.(Ser428=)	NC_000019.9:g.1226628G>C	(Likely) benign	2 labs	44162599c8
17:41244826 BRCA1 C>A	17	41244826	41244826	C	A	BRCA1	c.2722G>T	NM_007294.4	NP_009225.1:p.(Glu908Ter)	NC_000017.10:g.41244826C>A	(Likely) pathogenic	7 labs	441b222ea5
1:2234815 SKI A>C	1	2234815	2234815	A	C	SKI	c.1187A>C	NM_003036.3	NP_003027.1:p.(His396Pro)	NC_000001.10:g.2234815A>C	VUS	2 labs	5b3fac3d09
7:147815275 CNTNAP2 G>A	7	147815275	147815275	G	A	CNTNAP2	c.2449G>A	NM_014141.5	NP_054860.1:p.(Gly817Arg)	NC_000007.13:g.147815275G>A	VUS	2 labs	44223412fd
20:61467826 COL9A3 C>A	20	61467826	61467826	C	A	COL9A3	c.1549-4C>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61467826C>A	(Likely) benign	2 labs	44395061c9
19:1397427 GAMT C>T	19	1397427	1397427	C	T	GAMT	c.642G>A	NM_000156.5	NP_000147.1:p.(Leu214=)	NC_000019.9:g.1397427C>T	(Likely) benign	2 labs	443ea5d0c3
16:88873714 CDT1 A>C	16	88873714	88873714	A	C	CDT1	c.1301A>C	NM_030928.3	NP_112190.2:p.(Gln434Pro)	NC_000016.9:g.88873714A>C	VUS	2 labs	44492c314b
19:33792900 CEBPA C>A	19	33792900	33792900	C	A	CEBPA	c.421G>T	NM_004364.5	NP_004355.2:p.(Gly141Cys)	NC_000019.9:g.33792900C>A	(Likely) benign	2 labs	444bf858cf
11:68174158 LRP5 C>T	11	68174158	68174158	C	T	LRP5	c.225C>T	NM_001291902.2	NP_001278831.1:p.(His75=)	NC_000011.9:g.68174158C>T	(Likely) benign	3 labs	444ef8da0c
13:110436296 IRS2 A>ACGG	13	110436296	110436321	A	ACGG	IRS2	c.2102_2104dup	NM_003749.2	NP_003740.2:p.(Ala701dup)	NC_000013.10:g.110436319_110436321dup	(Likely) benign	3 labs	4459cb29b5
19:40900886 PRX C>T	19	40900886	40900886	C	T	PRX	c.3373G>A	NM_181882.3	NP_870998.2:p.(Gly1125Ser)	NC_000019.9:g.40900886C>T	(Likely) benign	3 labs	446ac52d86
20:62322288 RTEL1 T>C	20	62322288	62322288	T	C	RTEL1	c.2544T>C	NM_001283009.1	NP_001269938.1:p.(Pro848=)	NC_000020.10:g.62322288T>C	(Likely) benign	2 labs	447436798b
22:21902064 RIMBP3C A>ACACCTG	22	21902064	21902072	A	ACACCTG	RIMBP3C	c.3196_3201dup	NM_001128633.2	NP_001122105.1:p.(Gln1066_Val1067dup)	NC_000022.10:g.21902067_21902072dup	(Likely) benign	3 labs	4471b5b731
16:2546327 TBC1D24 C>T	16	2546327	2546327	C	T	TBC1D24	c.178C>T	NM_001199107.2	NP_001186036.1:p.(Arg60Trp)	NC_000016.9:g.2546327C>T	VUS	2 labs	44880b5de5
20:2375132 TGM6 G>A	20	2375132	2375132	G	A	TGM6	c.42G>A	NM_198994.2	NP_945345.2:p.(Ser14=)	NC_000020.10:g.2375132G>A	(Likely) benign	2 labs	4483387952
19:1619216 TCF3 G>A	19	1619216	1619216	G	A	TCF3	c.1344C>T	NM_003200.5	NP_003191.1:p.(Pro448=)	NC_000019.9:g.1619216G>A	(Likely) benign	2 labs	4487d47d4e
12:40713899 LRRK2 T>C	12	40713899	40713899	T	C	LRRK2	c.4937T>C	NM_198578.4	NP_940980.4:p.(Met1646Thr)	NC_000012.11:g.40713899T>C	(Likely) benign	2 labs	44812a5296
9:139400317 NOTCH1 G>A	9	139400317	139400317	G	A	NOTCH1	c.4031C>T	NM_017617.5	NP_060087.3:p.(Thr1344Met)	NC_000009.11:g.139400317G>A	VUS	3 labs	448893244f
X:153363099 MECP2 C>CGCG	X	153363099	153363119	C	CGCG	MECP2	c.21_23dup	NM_001110792.2	NP_001104262.1:p.(Ala8dup)	NC_000023.10:g.153363117_153363119dup	VUS	2 labs	449037cdcb
19:36549684 WDR62 G>A	19	36549684	36549684	G	A	WDR62	c.180G>A	NM_001083961.1	NP_001077430.1:p.(Val60=)	NC_000019.9:g.36549684G>A	(Likely) benign	2 labs	44981875fe
1:22965743 C1QA A>C	1	22965743	22965743	A	C	C1QA	c.581A>C	NM_001347465.1	NP_001334394.1:p.(Asn194Thr)	NC_000001.10:g.22965743A>C	(Likely) benign	2 labs	449e979d51
18:47375932 MYO5B C>G	18	47375932	47375932	C	G	MYO5B	c.4315+5G>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47375932C>G	(Likely) benign	2 labs	edc852b580
15:99250933 IGF1R G>A	15	99250933	99250933	G	A	IGF1R	c.237G>A	NM_000875.4	NP_000866.1:p.(Thr79=)	NC_000015.9:g.99250933G>A	(Likely) benign	2 labs	44aa00af3c
14:104053607 COA8 T>C	14	104053607	104053607	T	C	COA8	c.425-4T>C	NM_032374.4	NP_115750.2:p.?	NC_000014.8:g.104053607T>C	(Likely) benign	2 labs	44ab3ecea5
1:152276437 FLG A>G	1	152276437	152276437	A	G	FLG	c.10925T>C	NM_002016.1	NP_002007.1:p.(Ile3642Thr)	NC_000001.10:g.152276437A>G	(Likely) benign	2 labs	44b87cb812
15:89871960 POLG G>A	15	89871960	89871960	G	A	POLG	c.1126C>T	NM_002693.3	NP_002684.1:p.(Leu376=)	NC_000015.9:g.89871960G>A	(Likely) benign	3 labs	44cbbe1e2f
10:88486102 LDB3 CT>C	10	88486102	88486103	CT	C	LDB3	c.2094+94del	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88486103del	(Likely) benign	2 labs	44cd3c1395
15:23890979 MAGEL2 C>T	15	23890979	23890979	C	T	MAGEL2	c.1911G>A	NM_019066.5	NP_061939.3:p.(Arg637=)	NC_000015.9:g.23890979C>T	(Likely) benign	2 labs	44cd04eeef
21:47836216 PCNT A>G	21	47836216	47836216	A	G	PCNT	c.6384A>G	NM_006031.6	NP_006022.3:p.(Thr2128=)	NC_000021.8:g.47836216A>G	(Likely) benign	2 labs	44d1b2a8f4
3:93769677 ARL13B G>A	3	93769677	93769677	G	A	ARL13B	c.1151G>A	NM_001174150.1	NP_001167621.1:p.(Gly384Glu)	NC_000003.11:g.93769677G>A	(Likely) benign	2 labs	44d2c0d512
2:11817863 LPIN1 C>T	2	11817863	11817863	C	T	LPIN1	c.81+9C>T	NM_001261428.2	NP_001248357.1:p.?	NC_000002.11:g.11817863C>T	(Likely) benign	2 labs	44d36242bf
4:79343147 FRAS1 G>A	4	79343147	79343147	G	A	FRAS1	c.4671G>A	NM_025074.7	NP_079350.5:p.(Ser1557=)	NC_000004.11:g.79343147G>A	(Likely) benign	2 labs	44e0585aa7
13:111164274 COL4A2 T>C	13	111164274	111164274	T	C	COL4A2	c.4882-7T>C	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111164274T>C	(Likely) benign	2 labs	44d9af5436
8:145743140 RECQL4 C>T	8	145743140	145743140	C	T	RECQL4	c.29G>A	NM_004260.3	NP_004251.3:p.(Arg10Gln)	NC_000008.10:g.145743140C>T	VUS	2 labs	44dd5cce59
2:227942764 COL4A4 A>G	2	227942764	227942764	A	G	COL4A4	c.1833T>C	NM_000092.4	NP_000083.3:p.(Gly611=)	NC_000002.11:g.227942764A>G	(Likely) benign	3 labs	44e55d0723
11:2906012 CDKN1C C>T	11	2906012	2906012	C	T	CDKN1C	c.708G>A	NM_000076.2	NP_000067.1:p.(Glu236=)	NC_000011.9:g.2906012C>T	(Likely) benign	2 labs	44eb5c06d5
8:77896129 PEX2 G>A	8	77896129	77896129	G	A	PEX2	c.286C>T	NM_001172086.1	NP_001165557.1:p.(Gln96Ter)	NC_000008.10:g.77896129G>A	(Likely) pathogenic	2 labs	44eba06889
14:23862860 MYH6 G>T	14	23862860	23862860	G	T	MYH6	c.2928+15C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23862860G>T	(Likely) benign	2 labs	44f376bff4
3:130673922 ATP2C1 G>T	3	130673922	130673922	G	T	ATP2C1	c.754G>T	NM_014382.5	NP_055197.2:p.(Glu252Ter)	NC_000003.11:g.130673922G>T	(Likely) pathogenic	2 labs	44f6b2d175
13:60385060 DIAPH3 A>ATTAC	13	60385060	60385061	A	ATTAC	DIAPH3	c.3028-4_3028-3insGTAA	NM_001042517.2	NP_001035982.1:p.?	NC_000013.10:g.60385060_60385061insTTAC	(Likely) benign	3 labs	44ff2f2c23
6:90642550 BACH2 T>C	6	90642550	90642550	T	C	BACH2	c.2103A>G	NM_021813.4	NP_068585.1:p.(Glu701=)	NC_000006.11:g.90642550T>C	(Likely) benign	2 labs	44f9db07a0
18:31318484 ASXL3 C>T	18	31318484	31318484	C	T	ASXL3	c.1116C>T	NM_030632.2	NP_085135.1:p.(Leu372=)	NC_000018.9:g.31318484C>T	(Likely) benign	2 labs	44fe47e880
13:32900752 BRCA2 T>G	13	32900752	32900752	T	G	BRCA2	c.631+2T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900752T>G	(Likely) pathogenic	2 labs	edd60a8d30
12:22089448 ABCC9 A>T	12	22089448	22089448	A	T	ABCC9	c.142+19T>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22089448A>T	(Likely) benign	2 labs	edd95839bf
7:94052321 COL1A2 G>A	7	94052321	94052321	G	A	COL1A2	c.2456G>A	NM_000089.3	NP_000080.2:p.(Arg819His)	NC_000007.13:g.94052321G>A	VUS	2 labs	4504d3311c
13:32905026 BRCA2 A>C	13	32905026	32905026	A	C	BRCA2	c.682-30A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905026A>C	(Likely) benign	2 labs	450c756981
15:94858756 MCTP2 A>G	15	94858756	94858756	A	G	MCTP2	c.529-2A>G	NM_018349.3	NP_060819.3:p.?	NC_000015.9:g.94858756A>G	VUS	2 labs	451194c6f1
6:112493889 LAMA4 A>T	6	112493889	112493889	A	T	LAMA4	c.1475T>A	NM_001105206.3	NP_001098676.2:p.(Leu492His)	NC_000006.11:g.112493889A>T	(Likely) benign	3 labs	eddad6b603
11:47369411 MYBPC3 C>T	11	47369411	47369411	C	T	MYBPC3	c.818G>A	NM_000256.3	NP_000247.2:p.(Arg273His)	NC_000011.9:g.47369411C>T	VUS	3 labs	4518cf1a45
9:101980992 ALG2 T>C	9	101980992	101980992	T	C	ALG2	c.475A>G	NM_033087.3	NP_149078.1:p.(Ile159Val)	NC_000009.11:g.101980992T>C	(Likely) benign	2 labs	451cc87b12
X:41075904 USP9X C>T	X	41075904	41075904	C	T	USP9X	c.6084C>T	NM_001039591.3	NP_001034680.2:p.(Pro2028=)	NC_000023.10:g.41075904C>T	(Likely) benign	2 labs	451d096fd6
20:19956034 RIN2 G>A	20	19956034	19956034	G	A	RIN2	c.1512G>A	NM_001242581.1	NP_001229510.1:p.(Ala504=)	NC_000020.10:g.19956034G>A	(Likely) benign	2 labs	452f490bd8
X:147743744 AFF2 C>T	X	147743744	147743744	C	T	AFF2	c.496C>T	NM_002025.4	NP_002016.2:p.(Pro166Ser)	NC_000023.10:g.147743744C>T	(Likely) benign	3 labs	4538f08cbb
3:142215370 ATR AAGTAAC>A	3	142215370	142215377	AAGTAAC	A	ATR	c.5739-14_5739-9del	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142215372_142215377del	(Likely) benign	2 labs	454d93187a
X:29417373 IL1RAPL1 A>C	X	29417373	29417373	A	C	IL1RAPL1	c.651A>C	NM_014271.3	NP_055086.1:p.(Glu217Asp)	NC_000023.10:g.29417373A>C	VUS	2 labs	454eb39859
13:31232475 USPL1 C>T	13	31232475	31232475	C	T	USPL1	c.1718C>T	NM_001321532.1	NP_001308461.1:p.(Pro573Leu)	NC_000013.10:g.31232475C>T	VUS	2 labs	45538c574a
1:103488551 COL11A1 G>A	1	103488551	103488551	G	A	COL11A1	c.1028C>T	NM_080629.2	NP_542196.2:p.(Pro343Leu)	NC_000001.10:g.103488551G>A	(Likely) benign	2 labs	4557009da8
16:3779612 CREBBP G>C	16	3779612	3779612	G	C	CREBBP	c.5436C>G	NM_004380.3	NP_004371.2:p.(Thr1812=)	NC_000016.9:g.3779612G>C	(Likely) benign	2 labs	45518841d1
8:145623003 CPSF1 CCG>C	8	145623003	145623005	CCG	C	CPSF1	c.2163_2164del	NM_013291.3	NP_037423.2:p.(Gly723ProfsTer14)	NC_000008.10:g.145623004_145623005del	VUS	2 labs	455a11b425
18:48593379 SMAD4 T>C	18	48593379	48593379	T	C	SMAD4	c.1140-10T>C	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48593379T>C	(Likely) benign	2 labs	456c0547bc
6:80912831 BCKDHB C>T	6	80912831	80912831	C	T	BCKDHB	c.853C>T	NM_183050.4	NP_898871.1:p.(Arg285Ter)	NC_000006.11:g.80912831C>T	(Likely) pathogenic	2 labs	457136b212
8:145738491 RECQL4 CAT>C	8	145738491	145738493	CAT	C	RECQL4	c.2492_2493del	NM_004260.4	NP_004251.4:p.(His831ArgfsTer52)	NC_000008.10:g.145738492_145738493del	(Likely) pathogenic	2 labs	457411eac9
3:46904871 MYL3 T>G	3	46904871	46904871	T	G	MYL3	c.10A>C	NM_000258.2	NP_000249.1:p.(Lys4Gln)	NC_000003.11:g.46904871T>G	VUS	2 labs	4584181616
2:166897989 SCN1A G>GA	2	166897989	166898003	G	GA	SCN1A	c.2177-11dup	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166898003dup	(Likely) benign	4 labs	4588040a69
15:67457647 SMAD3 C>T	15	67457647	67457647	C	T	SMAD3	c.457C>T	NM_005902.3	NP_005893.1:p.(Leu153=)	NC_000015.9:g.67457647C>T	(Likely) benign	2 labs	458f7ae3f6
3:38645249 SCN5A C>T	3	38645249	38645249	C	T	SCN5A	c.1844G>A	NM_198056.3	NP_932173.1:p.(Gly615Glu)	NC_000003.11:g.38645249C>T	VUS	3 labs	ede81851e7
9:79972651 VPS13A C>T	9	79972651	79972651	C	T	VPS13A	c.7850C>T	NM_033305.3	NP_150648.2:p.(Pro2617Leu)	NC_000009.11:g.79972651C>T	VUS	2 labs	ede8e40b3b
11:77825320 ALG8 T>C	11	77825320	77825320	T	C	ALG8	c.665A>G	NM_001007027.3	NP_001007028.1:p.(Asn222Ser)	NC_000011.9:g.77825320T>C	(Likely) benign	2 labs	edf044d216
2:227661390 IRS1 C>T	2	227661390	227661390	C	T	IRS1	c.2065G>A	NM_005544.2	NP_005535.1:p.(Val689Ile)	NC_000002.11:g.227661390C>T	(Likely) benign	2 labs	45a78d0835
2:167137018 SCN9A A>T	2	167137018	167137018	A	T	SCN9A	c.2159T>A	NM_002977.3	NP_002968.1:p.(Ile720Lys)	NC_000002.11:g.167137018A>T	VUS	6 labs	edfe2cc58b
8:126071607 WASHC5 GC>G	8	126071607	126071609	GC	G	WASHC5	c.1688+10del	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126071609del	(Likely) benign	2 labs	45b55d496b
7:148506462 EZH2 G>A	7	148506462	148506462	G	A	EZH2	c.2050C>T	NM_004456.4	NP_004447.2:p.(Arg684Cys)	NC_000007.13:g.148506462G>A	(Likely) pathogenic	2 labs	45b81bd45d
1:22206977 HSPG2 C>T	1	22206977	22206977	C	T	HSPG2	c.2077G>A	NM_001291860.1	NP_001278789.1:p.(Val693Met)	NC_000001.10:g.22206977C>T	(Likely) benign	2 labs	45b87af9e9
X:153295964 MECP2 C>T	X	153295964	153295964	C	T	MECP2	c.1315G>A	NM_004992.3	NP_004983.1:p.(Ala439Thr)	NC_000023.10:g.153295964C>T	(Likely) benign	2 labs	45ba476973
19:856144 ELANE C>T	19	856144	856144	C	T	ELANE	c.784C>T	NM_001972.4	NP_001963.1:p.(Pro262Ser)	NC_000019.9:g.856144C>T	(Likely) benign	2 labs	45c517f2d0
6:7576562 DSP G>A	6	7576562	7576562	G	A	DSP	c.2666G>A	NM_004415.2	NP_004406.2:p.(Arg889Lys)	NC_000006.11:g.7576562G>A	(Likely) benign	2 labs	45bf0a4530
9:134386863 POMT1 A>G	9	134386863	134386863	A	G	POMT1	c.1052+9A>G	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134386863A>G	(Likely) benign	2 labs	45bfa0be2d
X:119708447 CUL4B C>T	X	119708447	119708447	C	T	CUL4B	c.26G>A	NM_003588.3	NP_003579.3:p.(Gly9Glu)	NC_000023.10:g.119708447C>T	(Likely) benign	3 labs	45bfc8b97e
1:236911090 ACTN2 C>T	1	236911090	236911090	C	T	ACTN2	c.891+15C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236911090C>T	(Likely) benign	2 labs	45bb8171b1
4:6303060 WFS1 A>G	4	6303060	6303060	A	G	WFS1	c.1538A>G	NM_006005.3	NP_005996.2:p.(Tyr513Cys)	NC_000004.11:g.6303060A>G	VUS	2 labs	45d0df2588
5:13902225 DNAH5 T>C	5	13902225	13902225	T	C	DNAH5	c.1667A>G	NM_001369.2	NP_001360.1:p.(Asp556Gly)	NC_000005.9:g.13902225T>C	VUS	2 labs	45d2e19fc8
16:21742179 OTOA C>T	16	21742179	21742179	C	T	OTOA	c.2229C>T	NM_144672.4	NP_653273.3:p.(Ala743=)	NC_000016.9:g.21742179C>T	(Likely) benign	2 labs	45d5b569dd
17:79478617 ACTG1 G>A	17	79478617	79478617	G	A	ACTG1	c.399C>T	NM_001199954.2	NP_001186883.1:p.(Tyr133=)	NC_000017.10:g.79478617G>A	(Likely) benign	2 labs	45d89e0e66
15:85401419 ALPK3 T>C	15	85401419	85401419	T	C	ALPK3	c.3450T>C	NM_020778.5	NP_065829.4:p.(Gly1150=)	NC_000015.9:g.85401419T>C	(Likely) benign	4 labs	45e9dc192b
1:92946625 GFI1 G>C	1	92946625	92946625	G	C	GFI1	c.319C>G	NM_001127215.2	NP_001120687.1:p.(Pro107Ala)	NC_000001.10:g.92946625G>C	(Likely) benign	2 labs	45e65856c7
1:91406804 ZNF644 G>C	1	91406804	91406804	G	C	ZNF644	c.107C>G	NM_201269.2	NP_958357.1:p.(Thr36Ser)	NC_000001.10:g.91406804G>C	VUS	2 labs	45ef7873a6
19:12791870 DHPS ACTC>A	19	12791870	12791876	ACTC	A	DHPS	c.207+501_207+503del	NM_001930.4	NP_001921.1:p.?	NC_000019.9:g.12791874_12791876del	VUS	2 labs	45f1558e3b
6:33152068 COL11A2 C>T	6	33152068	33152068	C	T	COL11A2	c.973G>A	NM_080680.2	NP_542411.2:p.(Asp325Asn)	NC_000006.11:g.33152068C>T	VUS	2 labs	45f79e9a25
X:114874753 PLS3 A>G	X	114874753	114874753	A	G	PLS3	c.886A>G	NM_001282337.1	NP_001269266.1:p.(Ile296Val)	NC_000023.10:g.114874753A>G	(Likely) benign	2 labs	45fa160d49
X:38260570 OTC T>C	X	38260570	38260570	T	C	OTC	c.429T>C	NM_000531.5	NP_000522.3:p.(Tyr143=)	NC_000023.10:g.38260570T>C	(Likely) benign	2 labs	45fad4434c
5:37139474 CPLANE1 TA>T	5	37139474	37139484	TA	T	CPLANE1	c.8471-3del	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37139484del	(Likely) benign	3 labs	45feae5d3f
1:216173883 USH2A T>C	1	216173883	216173883	T	C	USH2A	c.6347A>G	NM_206933.2	NP_996816.2:p.(His2116Arg)	NC_000001.10:g.216173883T>C	VUS	2 labs	45fdf98046
7:6026942 PMS2 G>T	7	6026942	6026942	G	T	PMS2	c.1454C>A	NM_000535.5	NP_000526.1:p.(Thr485Lys)	NC_000007.13:g.6026942G>T	(Likely) benign	3 labs	45feaf0aa6
5:89990379 ADGRV1 C>G	5	89990379	89990379	C	G	ADGRV1	c.7806C>G	NM_032119.4	NP_115495.3:p.(Pro2602=)	NC_000005.9:g.89990379C>G	(Likely) benign	2 labs	45fae92d7c
7:47886522 PKD1L1 C>T	7	47886522	47886522	C	T	PKD1L1	c.5108G>A	NM_138295.4	NP_612152.1:p.(Arg1703His)	NC_000007.13:g.47886522C>T	(Likely) benign	3 labs	46093111a4
18:77440097 CTDP1 C>G	18	77440097	77440097	C	G	CTDP1	c.150C>G	NM_048368.4	NP_430255.2:p.(Ala50=)	NC_000018.9:g.77440097C>G	(Likely) benign	2 labs	4614692204
1:144930816 PDE4DIP A>G	1	144930816	144930816	A	G	PDE4DIP	c.893T>C	NM_001002811.2	NP_001002811.2:p.(Leu298Pro)	NC_000001.10:g.144930816A>G	VUS	2 labs	461b2fee74
21:47535935 COL6A2 A>T	21	47535935	47535935	A	T	COL6A2	c.868A>T	NM_058175.2	NP_478055.2:p.(Ile290Phe)	NC_000021.8:g.47535935A>T	VUS	2 labs	461ba469c9
14:23873489 MYH6 G>A	14	23873489	23873489	G	A	MYH6	c.735+16C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873489G>A	(Likely) benign	3 labs	46153c6fec
13:20763612 GJB2 C>T	13	20763612	20763612	C	T	GJB2	c.109G>A	NM_004004.6	NP_003995.2:p.(Val37Ile)	NC_000013.10:g.20763612C>T	(Likely) pathogenic	5 labs	ee0829b1d2
9:101894904 TGFBR1 G>A	9	101894904	101894904	G	A	TGFBR1	c.457G>A	NM_004612.4	NP_004603.1:p.(Val153Ile)	NC_000009.11:g.101894904G>A	(Likely) benign	2 labs	461dd3e372
17:29701061 NF1 C>T	17	29701061	29701061	C	T	NF1	c.8345C>T	NM_000267.3	NP_000258.1:p.(Pro2782Leu)	NC_000017.10:g.29701061C>T	(Likely) benign	2 labs	462c438d03
14:91804482 CCDC88C C>T	14	91804482	91804482	C	T	CCDC88C	c.917G>A	NM_001080414.4	NP_001073883.2:p.(Arg306Gln)	NC_000014.8:g.91804482C>T	VUS	2 labs	ee0c11530b
15:89865011 POLG G>A	15	89865011	89865011	G	A	POLG	c.2554C>T	NM_002693.3	NP_002684.1:p.(Arg852Cys)	NC_000015.9:g.89865011G>A	VUS	2 labs	462feb0c32
2:179409006 TTN T>C	2	179409006	179409006	T	C	TTN	c.88246A>G	NM_133378.4	NP_596869.4:p.(Arg29416Gly)	NC_000002.11:g.179409006T>C	VUS	4 labs	46454ceab7
11:14913575 CYP2R1 G>A	11	14913575	14913575	G	A	CYP2R1	c.177C>T	NM_024514.5	NP_078790.2:p.(Ser59=)	NC_000011.9:g.14913575G>A	(Likely) benign	2 labs	ee12c68376
17:44073923 MAPT G>A	17	44073923	44073923	G	A	MAPT	c.1720G>A	NM_001123066.3	NP_001116538.2:p.(Ala574Thr)	NC_000017.10:g.44073923G>A	(Likely) benign	2 labs	464dcc3f12
17:72919086 USH1G G>A	17	72919086	72919086	G	A	USH1G	c.83C>T	NM_173477.4	NP_775748.2:p.(Pro28Leu)	NC_000017.10:g.72919086G>A	VUS	2 labs	464e428f8a
8:48845613 PRKDC A>G	8	48845613	48845613	A	G	PRKDC	c.1743T>C	NM_006904.6	NP_008835.5:p.(Leu581=)	NC_000008.10:g.48845613A>G	(Likely) benign	2 labs	464faa97c8
2:179476183 TTN C>G	2	179476183	179476183	C	G	TTN	c.50773G>C	NM_001267550.2	NP_001254479.2:p.(Val16925Leu)	NC_000002.11:g.179476183C>G	VUS	2 labs	ee164b9c41
9:126128245 CRB2 G>A	9	126128245	126128245	G	A	CRB2	c.468G>A	NM_173689.6	NP_775960.4:p.(Leu156=)	NC_000009.11:g.126128245G>A	(Likely) benign	2 labs	465679ff01
1:103379249 COL11A1 A>G	1	103379249	103379249	A	G	COL11A1	c.4015-3T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103379249A>G	(Likely) benign	2 labs	46537aaa88
17:17700037 RAI1 AAGG>A	17	17700037	17700045	AAGG	A	RAI1	c.3781_3783del	NM_030665.4	NP_109590.3:p.(Glu1261del)	NC_000017.10:g.17700043_17700045del	(Likely) benign	3 labs	465c14390a
3:4774816 ITPR1 C>T	3	4774816	4774816	C	T	ITPR1	c.5220C>T	NM_001168272.1	NP_001161744.1:p.(Asn1740=)	NC_000003.11:g.4774816C>T	(Likely) benign	2 labs	465dfe6174
5:149359932 SLC26A2 G>T	5	149359932	149359932	G	T	SLC26A2	c.776G>T	NM_000112.3	NP_000103.2:p.(Gly259Val)	NC_000005.9:g.149359932G>T	(Likely) pathogenic	2 labs	4660e25dab
3:123452838 MYLK G>A	3	123452838	123452838	G	A	MYLK	c.1005C>T	NM_053025.4	NP_444253.3:p.(Thr335=)	NC_000003.11:g.123452838G>A	(Likely) benign	4 labs	46643b1711
1:41284309 KCNQ4 G>A	1	41284309	41284309	G	A	KCNQ4	c.665G>A	NM_004700.3	NP_004691.2:p.(Gly222Asp)	NC_000001.10:g.41284309G>A	VUS	2 labs	466d57a02c
22:50962423 SCO2 C>T	22	50962423	50962423	C	T	SCO2	c.418G>A	NM_001169109.2	NP_001162580.1:p.(Glu140Lys)	NC_000022.10:g.50962423C>T	(Likely) pathogenic	4 labs	467a374d0d
14:74946968 NPC2 A>G	14	74946968	74946968	A	G	NPC2	c.*9T>C	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74946968A>G	(Likely) benign	2 labs	ee1ebb0aaa
2:58425798 FANCL C>G	2	58425798	58425798	C	G	FANCL	c.472-1G>C	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58425798C>G	(Likely) pathogenic	2 labs	467ec2be30
12:49447065 KMT2D C>T	12	49447065	49447065	C	T	KMT2D	c.879G>A	NM_003482.3	NP_003473.3:p.(Thr293=)	NC_000012.11:g.49447065C>T	(Likely) benign	2 labs	46834a5c84
5:125880710 ALDH7A1 T>C	5	125880710	125880710	T	C	ALDH7A1	c.1567A>G	NM_001182.5	NP_001173.2:p.(Thr523Ala)	NC_000005.9:g.125880710T>C	(Likely) benign	3 labs	ee2263ce8a
1:20972111 PINK1 G>A	1	20972111	20972111	G	A	PINK1	c.1018G>A	NM_032409.3	NP_115785.1:p.(Ala340Thr)	NC_000001.10:g.20972111G>A	(Likely) benign	2 labs	46937c5765
19:1399840 GAMT G>A	19	1399840	1399840	G	A	GAMT	c.279C>T	NM_138924.2	NP_620279.1:p.(Asp93=)	NC_000019.9:g.1399840G>A	(Likely) benign	2 labs	46ab138362
X:107867527 COL4A5 T>G	X	107867527	107867527	T	G	COL4A5	c.2979T>G	NM_033380.2	NP_203699.1:p.(Pro993=)	NC_000023.10:g.107867527T>G	(Likely) benign	2 labs	46ab60e5d5
1:40557033 PPT1 A>G	1	40557033	40557033	A	G	PPT1	c.401T>C	NM_000310.4	NP_000301.1:p.(Ile134Thr)	NC_000001.10:g.40557033A>G	(Likely) benign	3 labs	46a63b2aae
1:234744788 IRF2BP2 C>G	1	234744788	234744788	C	G	IRF2BP2	c.453G>C	NM_182972.2	NP_892017.2:p.(Pro151=)	NC_000001.10:g.234744788C>G	(Likely) benign	2 labs	46ae603a61
9:123205912 CDK5RAP2 C>G	9	123205912	123205912	C	G	CDK5RAP2	c.3134G>C	NM_018249.5	NP_060719.4:p.(Arg1045Thr)	NC_000009.11:g.123205912C>G	(Likely) benign	2 labs	46b203eb71
2:189862048 COL3A1 G>C	2	189862048	189862048	G	C	COL3A1	c.1816-14G>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862048G>C	(Likely) benign	2 labs	46b8579318
8:144992442 PLEC C>T	8	144992442	144992442	C	T	PLEC	c.11958G>A	NM_201380.3	NP_958782.1:p.(Pro3986=)	NC_000008.10:g.144992442C>T	(Likely) benign	2 labs	46bc2f0d47
11:16036482 SOX6 A>G	11	16036482	16036482	A	G	SOX6	c.1651+6T>C	NM_017508.3	NP_059978.2:p.?	NC_000011.9:g.16036482A>G	(Likely) benign	2 labs	46c29d6f4e
17:5461675 NLRP1 G>T	17	5461675	5461675	G	T	NLRP1	c.2341C>A	NM_033004.4	NP_127497.1:p.(Pro781Thr)	NC_000017.10:g.5461675G>T	(Likely) benign	2 labs	46cad7d9e8
2:56144810 EFEMP1 G>A	2	56144810	56144810	G	A	EFEMP1	c.507C>T	NM_001039348.3	NP_001034437.1:p.(Asn169=)	NC_000002.11:g.56144810G>A	(Likely) benign	2 labs	46c0516e72
1:12049375 MFN2 C>A	1	12049375	12049375	C	A	MFN2	c.150C>A	NM_014874.4	NP_055689.1:p.(Ile50=)	NC_000001.10:g.12049375C>A	(Likely) benign	2 labs	46c98de790
10:123279673 FGFR2 A>C	10	123279673	123279673	A	C	FGFR2	c.759T>G	NM_000141.5	NP_000132.3:p.(Pro253=)	NC_000010.10:g.123279673A>C	(Likely) benign	3 labs	46cdff2772
16:3294013 MEFV T>C	16	3294013	3294013	T	C	MEFV	c.1181A>G	NM_001198536.1	NP_001185465.1:p.(His394Arg)	NC_000016.9:g.3294013T>C	(Likely) benign	2 labs	46cdb7bb07
7:6022629 PMS2 G>A	7	6022629	6022629	G	A	PMS2	c.2007-7C>T	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6022629G>A	(Likely) benign	3 labs	46d1e79cae
13:111155773 COL4A2 T>C	13	111155773	111155773	T	C	COL4A2	c.4083T>C	NM_001846.4	NP_001837.2:p.(Thr1361=)	NC_000013.10:g.111155773T>C	(Likely) benign	3 labs	46e09dd25e
6:152542702 SYNE1 A>C	6	152542702	152542702	A	C	SYNE1	c.21523-8T>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152542702A>C	(Likely) benign	2 labs	46db79e975
7:27135308 HOXA1 GGGTGGCGAT>G	7	27135308	27135322	GGGTGGCGAT	G	HOXA1	c.215_223del	NM_005522.5	NP_005513.2:p.(His72_His74del)	NC_000007.13:g.27135314_27135322del	(Likely) benign	2 labs	46dfcaebad
2:179476574 TTN T>C	2	179476574	179476574	T	C	TTN	c.50462A>G	NM_001267550.2	NP_001254479.2:p.(Glu16821Gly)	NC_000002.11:g.179476574T>C	VUS	2 labs	ee3258c47c
X:76777847 ATRX T>C	X	76777847	76777847	T	C	ATRX	c.6869A>G	NM_000489.5	NP_000480.3:p.(Asn2290Ser)	NC_000023.10:g.76777847T>C	(Likely) benign	2 labs	46e645013b
7:42007392 GLI3 C>T	7	42007392	42007392	C	T	GLI3	c.2233G>A	NM_000168.6	NP_000159.3:p.(Asp745Asn)	NC_000007.13:g.42007392C>T	VUS	2 labs	46eac06798
10:72201219 NODAL G>A	10	72201219	72201219	G	A	NODAL	c.193+12C>T	NM_018055.4	NP_060525.3:p.?	NC_000010.10:g.72201219G>A	(Likely) benign	2 labs	46e9801a0f
10:123247550 FGFR2 G>A	10	123247550	123247550	G	A	FGFR2	c.1941C>T	NM_000141.5	NP_000132.3:p.(Leu647=)	NC_000010.10:g.123247550G>A	(Likely) benign	2 labs	46e8f54088
5:1212491 SLC6A19 G>A	5	1212491	1212491	G	A	SLC6A19	c.555G>A	NM_001003841.3	NP_001003841.1:p.(Thr185=)	NC_000005.9:g.1212491G>A	(Likely) benign	2 labs	46f37ff0ae
X:153582353 FLNA C>G	X	153582353	153582353	C	G	FLNA	c.5616G>C	NM_001110556.2	NP_001104026.1:p.(Gly1872=)	NC_000023.10:g.153582353C>G	(Likely) benign	2 labs	46fd18e4cb
1:22158995 HSPG2 C>T	1	22158995	22158995	C	T	HSPG2	c.11200G>A	NM_005529.7	NP_005520.4:p.(Glu3734Lys)	NC_000001.10:g.22158995C>T	VUS	2 labs	ee3cadb4fd
13:111158937 COL4A2 G>A	13	111158937	111158937	G	A	COL4A2	c.4578G>A	NM_001846.4	NP_001837.2:p.(Ala1526=)	NC_000013.10:g.111158937G>A	(Likely) benign	3 labs	47175e00a7
13:32911442 BRCA2 G>T	13	32911442	32911442	G	T	BRCA2	c.2950G>T	NM_000059.4	NP_000050.3:p.(Glu984Ter)	NC_000013.10:g.32911442G>T	(Likely) pathogenic	3 labs	ee3f79d76c
2:47168856 TTC7A C>G	2	47168856	47168856	C	G	TTC7A	c.176C>G	NM_001288951.1	NP_001275880.1:p.(Pro59Arg)	NC_000002.11:g.47168856C>G	(Likely) benign	3 labs	472154f85c
17:40828478 PLEKHH3 T>C	17	40828478	40828478	T	C	PLEKHH3	c.104A>G	NM_024927.5	NP_079203.4:p.(Glu35Gly)	NC_000017.10:g.40828478T>C	VUS	2 labs	4722b0e39b
16:15811131 MYH11 G>C	16	15811131	15811131	G	C	MYH11	c.5391C>G	NM_001040113.1	NP_001035202.1:p.(Leu1797=)	NC_000016.9:g.15811131G>C	(Likely) benign	2 labs	472b25f44f
3:49137187 QARS1 C>T	3	49137187	49137187	C	T	QARS1	c.1388+7G>A	NM_005051.2	NP_005042.1:p.?	NC_000003.11:g.49137187C>T	(Likely) benign	2 labs	472ec63189
6:107475877 PDSS2 C>T	6	107475877	107475877	C	T	PDSS2	c.1146G>A	NM_020381.3	NP_065114.3:p.(Ser382=)	NC_000006.11:g.107475877C>T	(Likely) benign	2 labs	47327bbef9
16:56226222 GNAO1 G>A	16	56226222	56226222	G	A	GNAO1	c.75G>A	NM_138736.2	NP_620073.2:p.(Glu25=)	NC_000016.9:g.56226222G>A	(Likely) benign	2 labs	47353ef028
14:23887512 MYH7 C>T	14	23887512	23887512	C	T	MYH7	c.4076G>A	NM_000257.4	NP_000248.2:p.(Arg1359His)	NC_000014.8:g.23887512C>T	VUS	4 labs	ee494adb9a
3:184039843 EIF4G1 A>T	3	184039843	184039843	A	T	EIF4G1	c.1471A>T	NM_198241.3	NP_937884.2:p.(Ile491Phe)	NC_000003.11:g.184039843A>T	(Likely) benign	3 labs	47466d71b7
18:6950864 LAMA1 G>A	18	6950864	6950864	G	A	LAMA1	c.8314C>T	NM_005559.3	NP_005550.2:p.(Arg2772Cys)	NC_000018.9:g.6950864G>A	(Likely) benign	2 labs	473e8621d7
6:135768282 AHI1 C>T	6	135768282	135768282	C	T	AHI1	c.1643G>A	NM_001134831.1	NP_001128303.1:p.(Arg548His)	NC_000006.11:g.135768282C>T	(Likely) benign	2 labs	47411930d2
15:45444144 DUOX1 G>C	15	45444144	45444144	G	C	DUOX1	c.3087G>C	NM_017434.4	NP_059130.2:p.(Gln1029His)	NC_000015.9:g.45444144G>C	VUS	2 labs	4744ebf261
X:54476707 FGD1 G>A	X	54476707	54476707	G	A	FGD1	c.2043C>T	NM_004463.2	NP_004454.2:p.(Val681=)	NC_000023.10:g.54476707G>A	(Likely) benign	2 labs	4748123026
19:6719394 C3 T>A	19	6719394	6719394	T	A	C3	c.95A>T	NM_000064.4	NP_000055.2:p.(Asn32Ile)	NC_000019.9:g.6719394T>A	VUS	3 labs	474fb0c08f
5:1201837 SLC6A19 C>T	5	1201837	1201837	C	T	SLC6A19	c.72C>T	NM_001003841.2	NP_001003841.1:p.(Ile24=)	NC_000005.9:g.1201837C>T	(Likely) benign	2 labs	476a6cd274
9:744589 KANK1 G>A	9	744589	744589	G	A	KANK1	c.3996G>A	NM_001256877.3	NP_001243806.1:p.(Pro1332=)	NC_000009.11:g.744589G>A	VUS	3 labs	476fc90942
1:52859391 ORC1 G>A	1	52859391	52859391	G	A	ORC1	c.806C>T	NM_004153.3	NP_004144.2:p.(Ser269Leu)	NC_000001.10:g.52859391G>A	(Likely) benign	2 labs	476faaf82c
9:137709682 COL5A1 C>T	9	137709682	137709682	C	T	COL5A1	c.4230+5C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709682C>T	(Likely) benign	3 labs	476aee3f21
2:109384154 RANBP2 A>G	2	109384154	109384154	A	G	RANBP2	c.7159A>G	NM_006267.5	NP_006258.3:p.(Thr2387Ala)	NC_000002.11:g.109384154A>G	VUS	2 labs	477781e7cb
5:90136800 ADGRV1 A>G	5	90136800	90136800	A	G	ADGRV1	c.17017A>G	NM_032119.4	NP_115495.3:p.(Lys5673Glu)	NC_000005.9:g.90136800A>G	(Likely) benign	3 labs	47762e8473
10:75855442 VCL C>T	10	75855442	75855442	C	T	VCL	c.1572C>T	NM_014000.3	NP_054706.1:p.(Ala524=)	NC_000010.10:g.75855442C>T	(Likely) benign	3 labs	477e836d22
2:238289832 COL6A3 G>A	2	238289832	238289832	G	A	COL6A3	c.1623C>T	NM_004369.4	NP_004360.2:p.(Ala541=)	NC_000002.11:g.238289832G>A	(Likely) benign	2 labs	4781092bbc
2:234255507 SAG T>A	2	234255507	234255507	T	A	SAG	c.1167T>A	NM_000541.5	NP_000532.2:p.(Asp389Glu)	NC_000002.11:g.234255507T>A	(Likely) benign	2 labs	479216b6b4
14:23862996 MYH6 G>A	14	23862996	23862996	G	A	MYH6	c.2807C>T	NM_002471.4	NP_002462.2:p.(Ala936Val)	NC_000014.8:g.23862996G>A	(Likely) benign	3 labs	ee620cf1ac
4:5812195 EVC A>G	4	5812195	5812195	A	G	EVC	c.2894+18A>G	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5812195A>G	(Likely) benign	2 labs	ee64892ee8
11:76826545 CAPN5 A>G	11	76826545	76826545	A	G	CAPN5	c.804A>G	NM_004055.5	NP_004046.2:p.(Leu268=)	NC_000011.9:g.76826545A>G	(Likely) benign	2 labs	47a877821a
16:2156112 PKD1 G>A	16	2156112	2156112	G	A	PKD1	c.7683C>T	NM_001009944.2	NP_001009944.2:p.(Ala2561=)	NC_000016.9:g.2156112G>A	(Likely) benign	2 labs	47ac5f9720
X:49086688 CACNA1F C>T	X	49086688	49086688	C	T	CACNA1F	c.811G>A	NM_005183.4	NP_005174.2:p.(Gly271Arg)	NC_000023.10:g.49086688C>T	(Likely) benign	2 labs	47b21833d4
X:153609463 EMD C>T	X	153609463	153609463	C	T	EMD	c.671C>T	NM_000117.3	NP_000108.1:p.(Pro224Leu)	NC_000023.10:g.153609463C>T	VUS	2 labs	ee71606ed2
19:45867721 ERCC2 G>A	19	45867721	45867721	G	A	ERCC2	c.679C>T	NM_000400.4	NP_000391.1:p.(Arg227Cys)	NC_000019.9:g.45867721G>A	VUS	2 labs	ee73646f19
4:5630470 EVC2 T>TAA	4	5630470	5630481	T	TAA	EVC2	c.1471-11_1471-10dup	NM_001166136.1	NP_001159608.1:p.?	NC_000004.11:g.5630480_5630481dup	(Likely) benign	2 labs	47c8d62ccf
16:88502882 ZNF469 A>C	16	88502882	88502882	A	C	ZNF469	c.9004A>C	NM_001367624.2	NP_001354553.1:p.(Met3002Leu)	NC_000016.9:g.88502882A>C	(Likely) benign	2 labs	47cc7d5701
9:140051142 GRIN1 A>C	9	140051142	140051142	A	C	GRIN1	c.693A>C	NM_007327.3	NP_015566.1:p.(Val231=)	NC_000009.11:g.140051142A>C	(Likely) benign	2 labs	47db297d9d
X:153596286 FLNA C>G	X	153596286	153596286	C	G	FLNA	c.546G>C	NM_001110556.2	NP_001104026.1:p.(Gln182His)	NC_000023.10:g.153596286C>G	(Likely) benign	2 labs	47e78a0026
4:6304125 WFS1 G>A	4	6304125	6304125	G	A	WFS1	c.2603G>A	NM_006005.3	NP_005996.2:p.(Arg868His)	NC_000004.11:g.6304125G>A	VUS	2 labs	47ea32f250
2:121746508 GLI2 C>T	2	121746508	121746508	C	T	GLI2	c.3018C>T	NM_001371271.1	NP_001358200.1:p.(Gly1006=)	NC_000002.11:g.121746508C>T	(Likely) benign	2 labs	47ead4ba5b
12:102164207 GNPTAB G>A	12	102164207	102164207	G	A	GNPTAB	c.1090C>T	NM_024312.5	NP_077288.2:p.(Arg364Ter)	NC_000012.11:g.102164207G>A	(Likely) pathogenic	3 labs	47fafde0b0
2:15378727 NBAS G>A	2	15378727	15378727	G	A	NBAS	c.5808C>T	NM_015909.4	NP_056993.2:p.(Asn1936=)	NC_000002.11:g.15378727G>A	(Likely) benign	3 labs	47fa9d568a
X:153220560 HCFC1 T>G	X	153220560	153220560	T	G	HCFC1	c.3290A>C	NM_005334.2	NP_005325.2:p.(Asn1097Thr)	NC_000023.10:g.153220560T>G	(Likely) benign	3 labs	47fe024956
17:73837042 UNC13D T>C	17	73837042	73837042	T	C	UNC13D	c.610A>G	NM_199242.2	NP_954712.1:p.(Met204Val)	NC_000017.10:g.73837042T>C	(Likely) benign	2 labs	47fe569314
X:122778735 THOC2 C>T	X	122778735	122778735	C	T	THOC2	c.1454G>A	NM_001081550.1	NP_001075019.1:p.(Ser485Asn)	NC_000023.10:g.122778735C>T	(Likely) benign	2 labs	4802459a34
2:179465612 TTN A>G	2	179465612	179465612	A	G	TTN	c.56019T>C	NM_001267550.2	NP_001254479.2:p.(Thr18673=)	NC_000002.11:g.179465612A>G	(Likely) benign	2 labs	48147491d8
17:29654800 NF1 C>G	17	29654800	29654800	C	G	NF1	c.5489C>G	NM_000267.3	NP_000258.1:p.(Pro1830Arg)	NC_000017.10:g.29654800C>G	(Likely) pathogenic	2 labs	4815fd8428
18:29078258 DSG2 T>A	18	29078258	29078258	T	A	DSG2	c.44T>A	NM_001943.5	NP_001934.2:p.(Leu15Gln)	NC_000018.9:g.29078258T>A	(Likely) benign	5 labs	ee81c40b49
9:34658593 IL11RA A>G	9	34658593	34658593	A	G	IL11RA	c.723A>G	NM_001142784.2	NP_001136256.1:p.(Thr241=)	NC_000009.11:g.34658593A>G	(Likely) benign	2 labs	481f6d8e9d
10:135111452 TUBGCP2 G>A	10	135111452	135111452	G	A	TUBGCP2	c.616+4C>T	NM_001256617.1	NP_001243546.1:p.?	NC_000010.10:g.135111452G>A	(Likely) benign	2 labs	4820cfa364
5:177580714 NHP2 C>T	5	177580714	177580714	C	T	NHP2	c.105G>A	NM_017838.3	NP_060308.1:p.(Ala35=)	NC_000005.9:g.177580714C>T	(Likely) benign	2 labs	48214d25b0
17:29554544 NF1 T>C	17	29554544	29554544	T	C	NF1	c.2329T>C	NM_000267.3	NP_000258.1:p.(Trp777Arg)	NC_000017.10:g.29554544T>C	(Likely) pathogenic	2 labs	4821ec5bfe
1:152285621 FLG T>A	1	152285621	152285621	T	A	FLG	c.1741A>T	NM_002016.1	NP_002007.1:p.(Thr581Ser)	NC_000001.10:g.152285621T>A	(Likely) benign	2 labs	48242239bd
6:32798224 TAP2 A>G	6	32798224	32798224	A	G	TAP2	c.1462-7T>C	NM_001290043.1	NP_001276972.1:p.?	NC_000006.11:g.32798224A>G	(Likely) benign	2 labs	4825e42875
14:104029391 COA8 CCTTCGCCTGCCGCGG>C	14	104029391	104029408	CCTTCGCCTGCCGCGG	C	COA8	c.56_70del	NM_001370595.2	NP_001357524.1:p.(Phe19_Gly23del)	NC_000014.8:g.104029394_104029408del	VUS	2 labs	48301bb9b8
12:52159438 SCN8A G>GT	12	52159438	52159448	G	GT	SCN8A	c.2545-7dup	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52159448dup	(Likely) benign	3 labs	4839bd3c86
X:153588473 FLNA G>A	X	153588473	153588473	G	A	FLNA	c.3690C>T	NM_001110556.2	NP_001104026.1:p.(Thr1230=)	NC_000023.10:g.153588473G>A	(Likely) benign	3 labs	4834f50e7c
5:82815648 VCAN T>A	5	82815648	82815648	T	A	VCAN	c.1523T>A	NM_004385.5	NP_004376.2:p.(Ile508Asn)	NC_000005.9:g.82815648T>A	(Likely) benign	2 labs	483a3d81f5
17:73269676 SLC25A19 C>T	17	73269676	73269676	C	T	SLC25A19	c.819G>A	NM_001126121.2	NP_001119593.1:p.(Leu273=)	NC_000017.10:g.73269676C>T	(Likely) benign	2 labs	4840aca323
12:49433848 KMT2D C>T	12	49433848	49433848	C	T	KMT2D	c.7705G>A	NM_003482.3	NP_003473.3:p.(Gly2569Ser)	NC_000012.11:g.49433848C>T	(Likely) benign	2 labs	48429e1db6
17:41243809 BRCA1 C>T	17	41243809	41243809	C	T	BRCA1	c.3739G>A	NM_007294.3	NP_009225.1:p.(Val1247Ile)	NC_000017.10:g.41243809C>T	(Likely) benign	3 labs	484afd8cda
2:179577998 TTN T>C	2	179577998	179577998	T	C	TTN	c.26863A>G	NM_001267550.2	NP_001254479.2:p.(Ile8955Val)	NC_000002.11:g.179577998T>C	(Likely) benign	6 labs	ee8825e679
3:4714920 ITPR1 A>G	3	4714920	4714920	A	G	ITPR1	c.2305A>G	NM_001099952.2	NP_001093422.2:p.(Met769Val)	NC_000003.11:g.4714920A>G	(Likely) benign	2 labs	48637878da
17:61562490 ACE A>AG	17	61562490	61562493	A	AG	ACE	c.1922-104dup	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61562493dup	(Likely) benign	2 labs	ee92995e49
3:45441757 LARS2 C>T	3	45441757	45441757	C	T	LARS2	c.255C>T	NM_015340.4	NP_056155.1:p.(Tyr85=)	NC_000003.11:g.45441757C>T	(Likely) benign	2 labs	48769d6fda
7:117182149 CFTR C>T	7	117182149	117182149	C	T	CFTR	c.1196C>T	NM_000492.3	NP_000483.3:p.(Ala399Val)	NC_000007.13:g.117182149C>T	VUS	2 labs	4880467a6c
17:5461829 NLRP1 C>T	17	5461829	5461829	C	T	NLRP1	c.2187G>A	NM_033004.4	NP_127497.1:p.(Thr729=)	NC_000017.10:g.5461829C>T	(Likely) benign	2 labs	48845ed943
6:76731854 IMPG1 G>A	6	76731854	76731854	G	A	IMPG1	c.645C>T	NM_001563.4	NP_001554.2:p.(Asn215=)	NC_000006.11:g.76731854G>A	(Likely) benign	2 labs	4885f094a3
5:150923714 FAT2 T>C	5	150923714	150923714	T	C	FAT2	c.6974A>G	NM_001447.3	NP_001438.1:p.(Asn2325Ser)	NC_000005.9:g.150923714T>C	(Likely) benign	2 labs	488ac0625f
1:11854790 MTHFR G>A	1	11854790	11854790	G	A	MTHFR	c.1162C>T	NM_005957.4	NP_005948.3:p.(Arg388Cys)	NC_000001.10:g.11854790G>A	VUS	2 labs	488b632441
1:26131654 SELENON G>A	1	26131654	26131654	G	A	SELENON	c.425G>A	NM_020451.3	NP_065184.2:p.(Cys142Tyr)	NC_000001.10:g.26131654G>A	(Likely) benign	4 labs	ee9eb1440b
20:2378575 TGM6 C>T	20	2378575	2378575	C	T	TGM6	c.555C>T	NM_198994.2	NP_945345.2:p.(Asp185=)	NC_000020.10:g.2378575C>T	(Likely) benign	2 labs	488db3af25
20:10394046 MKKS G>A	20	10394046	10394046	G	A	MKKS	c.117C>T	NM_018848.3	NP_061336.1:p.(Pro39=)	NC_000020.10:g.10394046G>A	(Likely) benign	2 labs	4893c618a3
X:39932094 BCOR A>G	X	39932094	39932094	A	G	BCOR	c.2505T>C	NM_001123385.1	NP_001116857.1:p.(Ala835=)	NC_000023.10:g.39932094A>G	(Likely) benign	2 labs	4893e9cbe1
11:63987913 FERMT3 G>A	11	63987913	63987913	G	A	FERMT3	c.1329G>A	NM_178443.2	NP_848537.1:p.(Gln443=)	NC_000011.9:g.63987913G>A	(Likely) benign	2 labs	489b8258d1
2:219747090 WNT10A C>A	2	219747090	219747090	C	A	WNT10A	c.321C>A	NM_025216.3	NP_079492.2:p.(Cys107Ter)	NC_000002.11:g.219747090C>A	(Likely) pathogenic	6 labs	48a5ce590a
6:73904743 KCNQ5 G>A	6	73904743	73904743	G	A	KCNQ5	c.2462G>A	NM_001160133.1	NP_001153605.1:p.(Arg821His)	NC_000006.11:g.73904743G>A	(Likely) benign	2 labs	48a805e0e7
3:123066756 ADCY5 G>A	3	123066756	123066756	G	A	ADCY5	c.1285-6C>T	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123066756G>A	(Likely) benign	2 labs	eea210bd57
2:179616770 TTN GAAA>G	2	179616770	179616785	GAAA	G	TTN	c.11311+1078_11311+1080del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616783_179616785del	(Likely) benign	3 labs	eea2c986eb
7:75615394 POR G>A	7	75615394	75615394	G	A	POR	c.1815+8G>A	NM_000941.2	NP_000932.3:p.?	NC_000007.13:g.75615394G>A	(Likely) benign	2 labs	48b654fa0b
1:236914821 ACTN2 G>A	1	236914821	236914821	G	A	ACTN2	c.1708G>A	NM_001103.3	NP_001094.1:p.(Gly570Arg)	NC_000001.10:g.236914821G>A	(Likely) benign	2 labs	48b805e9a4
4:2835529 SH3BP2 C>T	4	2835529	2835529	C	T	SH3BP2	c.1738C>T	NM_001145855.2	NP_001139327.1:p.(Arg580Trp)	NC_000004.11:g.2835529C>T	VUS	2 labs	48b9b3a16e
3:164755794 SI T>C	3	164755794	164755794	T	C	SI	c.2320A>G	NM_001041.4	NP_001032.2:p.(Arg774Gly)	NC_000003.11:g.164755794T>C	VUS	2 labs	48bc3d2453
2:179578891 TTN T>C	2	179578891	179578891	T	C	TTN	c.26494A>G	NM_001267550.2	NP_001254479.2:p.(Ile8832Val)	NC_000002.11:g.179578891T>C	(Likely) benign	4 labs	eea30f1fb2
18:43445728 EPG5 A>AC	18	43445728	43445730	A	AC	EPG5	c.6622-5dup	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43445730dup	(Likely) benign	2 labs	48c39ad4ec
17:78085802 GAA C>T	17	78085802	78085802	C	T	GAA	c.1657C>T	NM_000152.3	NP_000143.2:p.(Gln553Ter)	NC_000017.10:g.78085802C>T	(Likely) pathogenic	2 labs	48c7de9dc7
1:216062040 USH2A T>C	1	216062040	216062040	T	C	USH2A	c.7951A>G	NM_206933.4	NP_996816.3:p.(Asn2651Asp)	NC_000001.10:g.216062040T>C	VUS	3 labs	48cc7cd8dc
6:7571738 DSP A>G	6	7571738	7571738	A	G	DSP	c.1824A>G	NM_004415.2	NP_004406.2:p.(Ile608Met)	NC_000006.11:g.7571738A>G	(Likely) benign	2 labs	48cf59ef9f
2:44065739 ABCG5 C>G	2	44065739	44065739	C	G	ABCG5	c.80G>C	NM_022436.3	NP_071881.1:p.(Gly27Ala)	NC_000002.11:g.44065739C>G	(Likely) benign	3 labs	48ce114241
6:65622420 EYS G>A	6	65622420	65622420	G	A	EYS	c.2598C>T	NM_001292009.2	NP_001278938.1:p.(Cys866=)	NC_000006.11:g.65622420G>A	(Likely) benign	2 labs	48d61f9a66
2:179481917 TTN A>C	2	179481917	179481917	A	C	TTN	c.47805T>G	NM_001267550.2	NP_001254479.2:p.(Ser15935=)	NC_000002.11:g.179481917A>C	(Likely) benign	3 labs	48e3464f3f
10:21185931 NEBL A>G	10	21185931	21185931	A	G	NEBL	c.109T>C	NM_006393.2	NP_006384.1:p.(Leu37=)	NC_000010.10:g.21185931A>G	(Likely) benign	2 labs	48e454b92c
11:76867967 MYO7A G>A	11	76867967	76867967	G	A	MYO7A	c.652G>A	NM_000260.3	NP_000251.3:p.(Asp218Asn)	NC_000011.9:g.76867967G>A	(Likely) pathogenic	2 labs	48f0e8e08a
17:59560704 TBX4 G>A	17	59560704	59560704	G	A	TBX4	c.1468G>A	NM_001321120.2	NP_001308049.1:p.(Ala490Thr)	NC_000017.10:g.59560704G>A	(Likely) benign	2 labs	48f4bda05e
2:44050041 ABCG5 C>G	2	44050041	44050041	C	G	ABCG5	c.1358G>C	NM_022436.3	NP_071881.1:p.(Ser453Thr)	NC_000002.11:g.44050041C>G	VUS	2 labs	eea9dd3cd5
X:41076602 USP9X T>G	X	41076602	41076602	T	G	USP9X	c.6209+6T>G	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.41076602T>G	(Likely) benign	2 labs	48f83805c2
3:38618192 SCN5A G>A	3	38618192	38618192	G	A	SCN5A	c.3471C>T	NM_001099404.2	NP_001092874.1:p.(Leu1157=)	NC_000003.11:g.38618192G>A	(Likely) benign	3 labs	48fcbb03f1
2:45171842 SIX3 A>G	2	45171842	45171842	A	G	SIX3	c.942A>G	NM_005413.4	NP_005404.1:p.(Ala314=)	NC_000002.11:g.45171842A>G	(Likely) benign	2 labs	49052bf502
2:179597741 TTN C>A	2	179597741	179597741	C	A	TTN	c.16162G>T	NM_001267550.2	NP_001254479.2:p.(Val5388Leu)	NC_000002.11:g.179597741C>A	VUS	2 labs	eeb73d61e3
10:72358811 PRF1 G>T	10	72358811	72358811	G	T	PRF1	c.666C>A	NM_001083116.1	NP_001076585.1:p.(His222Gln)	NC_000010.10:g.72358811G>T	VUS	2 labs	4905ee7c04
1:170501385 GORAB A>C	1	170501385	170501385	A	C	GORAB	c.21A>C	NM_152281.3	NP_689494.3:p.(Gly7=)	NC_000001.10:g.170501385A>C	(Likely) benign	2 labs	eeb93b82d8
17:29508508 NF1 G>T	17	29508508	29508508	G	T	NF1	c.654+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508508G>T	(Likely) pathogenic	2 labs	49125c46c7
X:38158356 RPGR A>G	X	38158356	38158356	A	G	RPGR	c.1098T>C	NM_001034853.2	NP_001030025.1:p.(Ala366=)	NC_000023.10:g.38158356A>G	(Likely) benign	2 labs	490ad8f072
12:46246129 ARID2 A>G	12	46246129	46246129	A	G	ARID2	c.4223A>G	NM_152641.3	NP_689854.2:p.(Lys1408Arg)	NC_000012.11:g.46246129A>G	(Likely) benign	2 labs	4919f5b84c
11:44151625 EXT2 G>T	11	44151625	44151625	G	T	EXT2	c.1110G>T	NM_001178083.1	NP_001171554.1:p.(Met370Ile)	NC_000011.9:g.44151625G>T	(Likely) benign	2 labs	491c8bcaf3
15:90177028 KIF7 G>A	15	90177028	90177028	G	A	KIF7	c.2481C>T	NM_198525.2	NP_940927.2:p.(Asn827=)	NC_000015.9:g.90177028G>A	(Likely) benign	2 labs	491e121264
2:189873766 COL3A1 C>A	2	189873766	189873766	C	A	COL3A1	c.3642C>A	NM_000090.4	NP_000081.2:p.(Gly1214=)	NC_000002.11:g.189873766C>A	(Likely) benign	3 labs	491a4bb7ff
19:50826281 KCNC3 G>A	19	50826281	50826281	G	A	KCNC3	c.1929C>T	NM_004977.2	NP_004968.2:p.(Gly643=)	NC_000019.9:g.50826281G>A	(Likely) benign	2 labs	4927c602ca
16:71220668 HYDIN C>T	16	71220668	71220668	C	T	HYDIN	c.131G>A	NM_001270974.2	NP_001257903.1:p.(Arg44Gln)	NC_000016.9:g.71220668C>T	(Likely) benign	2 labs	492893be79
15:48719782 FBN1 A>G	15	48719782	48719782	A	G	FBN1	c.7186T>C	NM_000138.4	NP_000129.3:p.(Phe2396Leu)	NC_000015.9:g.48719782A>G	VUS	2 labs	492b9968fa
14:23857359 MYH6 T>C	14	23857359	23857359	T	C	MYH6	c.4359+5A>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857359T>C	(Likely) benign	3 labs	eebf96de2f
2:73800227 ALMS1 G>A	2	73800227	73800227	G	A	ALMS1	c.11226G>A	NM_015120.4	NP_055935.4:p.(Glu3742=)	NC_000002.11:g.73800227G>A	(Likely) benign	3 labs	49310a9815
18:46645157 DYM C>T	18	46645157	46645157	C	T	DYM	c.1868G>A	NM_001353214.1	NP_001340143.1:p.(Arg623Gln)	NC_000018.9:g.46645157C>T	VUS	2 labs	4935f4072b
12:6172202 VWF T>C	12	6172202	6172202	T	C	VWF	c.1451A>G	NM_000552.5	NP_000543.3:p.(His484Arg)	NC_000012.11:g.6172202T>C	(Likely) benign	2 labs	eec20a492e
16:70287883 AARS1 T>C	16	70287883	70287883	T	C	AARS1	c.2459A>G	NM_001605.3	NP_001596.2:p.(Lys820Arg)	NC_000016.9:g.70287883T>C	(Likely) benign	3 labs	4941f65c95
13:103528002 ERCC5 G>C	13	103528002	103528002	G	C	ERCC5	c.3310G>C	NM_000123.4	NP_000114.3:p.(Asp1104His)	NC_000013.10:g.103528002G>C	(Likely) benign	2 labs	494d5f8cdc
X:153591072 FLNA G>A	X	153591072	153591072	G	A	FLNA	c.2361C>T	NM_001110556.2	NP_001104026.1:p.(His787=)	NC_000023.10:g.153591072G>A	(Likely) benign	2 labs	495375bb86
3:123420280 MYLK C>T	3	123420280	123420280	C	T	MYLK	c.2462+5G>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123420280C>T	VUS	2 labs	495436d4ec
15:63362136 TPM1 G>A	15	63362136	63362136	G	A	TPM1	c.732G>A	NM_001330351.2	NP_001317280.1:p.(Glu244=)	NC_000015.9:g.63362136G>A	(Likely) benign	3 labs	eec47db3d7
9:740847 KANK1 G>A	9	740847	740847	G	A	KANK1	c.3609G>A	NM_001256877.2	NP_001243806.1:p.(Ala1203=)	NC_000009.11:g.740847G>A	(Likely) benign	2 labs	4956dd39ec
X:110644405 DCX T>C	X	110644405	110644405	T	C	DCX	c.761A>G	NM_000555.3	NP_000546.2:p.(Asn254Ser)	NC_000023.10:g.110644405T>C	VUS	2 labs	4962591a77
9:88203292 AGTPBP1 G>A	9	88203292	88203292	G	A	AGTPBP1	c.2980C>T	NM_001286715.1	NP_001273644.1:p.(Pro994Ser)	NC_000009.11:g.88203292G>A	VUS	2 labs	4962bb2241
19:46270203 SIX5 G>T	19	46270203	46270203	G	T	SIX5	c.1014C>A	NM_175875.4	NP_787071.2:p.(Leu338=)	NC_000019.9:g.46270203G>T	(Likely) benign	2 labs	49659f3f37
9:139326450 INPP5E G>A	9	139326450	139326450	G	A	INPP5E	c.1388-13C>T	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139326450G>A	(Likely) benign	2 labs	eec4992a33
2:27702925 IFT172 C>T	2	27702925	27702925	C	T	IFT172	c.877G>A	NM_015662.3	NP_056477.1:p.(Ala293Thr)	NC_000002.11:g.27702925C>T	VUS	2 labs	4968196918
6:108243120 SEC63 AAAAAC>A	6	108243120	108243129	AAAAAC	A	SEC63	c.340-12_340-8del	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243129del	(Likely) benign	2 labs	4972518e71
6:157099335 ARID1B ACCACCACCACCACCATGCCCACCACCT>A	6	157099335	157099375	ACCACCACCACCACCATGCCCACCACCT	A	ARID1B	c.535_561del	NM_001374828.1	NP_001361757.1:p.(His179_His187del)	NC_000006.11:g.157099349_157099375del	VUS	2 labs	4976f89cdd
4:170429488 NEK1 A>G	4	170429488	170429488	A	G	NEK1	c.1750-6T>C	NM_001199397.1	NP_001186326.1:p.?	NC_000004.11:g.170429488A>G	(Likely) benign	2 labs	49826662dd
15:49030841 CEP152 T>C	15	49030841	49030841	T	C	CEP152	c.4738A>G	NM_001194998.1	NP_001181927.1:p.(Thr1580Ala)	NC_000015.9:g.49030841T>C	(Likely) benign	2 labs	498308e26a
22:19882946 TXNRD2 G>A	22	19882946	19882946	G	A	TXNRD2	c.933C>T	NM_001282512.3	NP_001269441.1:p.(Thr311=)	NC_000022.10:g.19882946G>A	(Likely) benign	2 labs	4994706e47
9:139327599 INPP5E G>A	9	139327599	139327599	G	A	INPP5E	c.1159+8C>T	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139327599G>A	(Likely) benign	2 labs	498f13f633
2:220288539 DES C>T	2	220288539	220288539	C	T	DES	c.1285C>T	NM_001927.3	NP_001918.3:p.(Arg429Ter)	NC_000002.11:g.220288539C>T	(Likely) pathogenic	2 labs	499fbcf4aa
8:61743055 CHD7 G>A	8	61743055	61743055	G	A	CHD7				NC_000008.10:g.61743055G>A	(Likely) benign	2 labs	49a3968fae
14:23888370 MYH7 C>T	14	23888370	23888370	C	T	MYH7	c.3972+16G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888370C>T	(Likely) benign	3 labs	49a694b9f8
18:12367393 AFG3L2 CAA>C	18	12367393	12367396	CAA	C	AFG3L2	c.293-14_293-13del	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12367395_12367396del	(Likely) benign	3 labs	49ae9a7622
14:105415933 AHNAK2 G>A	14	105415933	105415933	G	A	AHNAK2	c.5855C>T	NM_138420.3	NP_612429.2:p.(Pro1952Leu)	NC_000014.8:g.105415933G>A	(Likely) benign	2 labs	49b778f72b
1:5969245 NPHP4 G>A	1	5969245	5969245	G	A	NPHP4	c.1470C>T	NM_015102.4	NP_055917.1:p.(Leu490=)	NC_000001.10:g.5969245G>A	(Likely) benign	2 labs	49c5399571
16:28997868 LAT T>C	16	28997868	28997868	T	C	LAT	c.318T>C	NM_014387.3	NP_055202.1:p.(Ser106=)	NC_000016.9:g.28997868T>C	(Likely) benign	2 labs	49c81d1d7c
20:61463501 COL9A3 T>C	20	61463501	61463501	T	C	COL9A3	c.1288-5T>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61463501T>C	(Likely) benign	4 labs	49ca48e76e
20:62664275 PRPF6 A>G	20	62664275	62664275	A	G	PRPF6	c.2755A>G	NM_012469.3	NP_036601.2:p.(Ile919Val)	NC_000020.10:g.62664275A>G	(Likely) benign	2 labs	49cb446de5
17:456629 VPS53 G>A	17	456629	456629	G	A	VPS53	c.1778C>T	NM_001128159.3	NP_001121631.1:p.(Thr593Met)	NC_000017.10:g.456629G>A	VUS	2 labs	eedf3de38f
2:239261463 TRAF3IP1 T>G	2	239261463	239261463	T	G	TRAF3IP1	c.1452-5T>G	NM_015650.3	NP_056465.2:p.?	NC_000002.11:g.239261463T>G	VUS	2 labs	49d2cdbdef
6:66204970 EYS C>T	6	66204970	66204970	C	T	EYS	c.334G>A	NM_001292009.2	NP_001278938.1:p.(Val112Ile)	NC_000006.11:g.66204970C>T	(Likely) benign	2 labs	49cf7825f8
8:17916894 ASAH1 G>C	8	17916894	17916894	G	C	ASAH1	c.997C>G	NM_177924.5	NP_808592.2:p.(Arg333Gly)	NC_000008.10:g.17916894G>C	VUS	2 labs	49d8fe6237
16:88783289 PIEZO1 G>A	16	88783289	88783289	G	A	PIEZO1	c.6678C>T	NM_001142864.4	NP_001136336.2:p.(Ser2226=)	NC_000016.9:g.88783289G>A	(Likely) benign	3 labs	49daf113b8
19:7184431 INSR G>A	19	7184431	7184431	G	A	INSR	c.870C>T	NM_000208.3	NP_000199.2:p.(His290=)	NC_000019.9:g.7184431G>A	(Likely) benign	2 labs	49e92a3cf8
1:235564817 TBCE G>C	1	235564817	235564817	G	C	TBCE	c.101-1G>C	NM_003193.5	NP_003184.1:p.?	NC_000001.10:g.235564817G>C	(Likely) pathogenic	2 labs	49ea6059c5
X:153357614 MECP2 TA>T	X	153357614	153357627	TA	T	MECP2	c.62+5446del	NM_001110792.2	NP_001104262.1:p.?	NC_000023.10:g.153357627del	(Likely) benign	2 labs	49eb249400
10:102539322 PAX2 G>A	10	102539322	102539322	G	A	PAX2	c.478G>A	NM_003988.4	NP_003979.2:p.(Ala160Thr)	NC_000010.10:g.102539322G>A	(Likely) benign	2 labs	49f1c7f584
7:21940626 DNAH11 C>T	7	21940626	21940626	C	T	DNAH11				NC_000007.13:g.21940626C>T	(Likely) benign	2 labs	49f4407b57
1:9777666 PIK3CD C>T	1	9777666	9777666	C	T	PIK3CD	c.1002C>T	NM_005026.3	NP_005017.3:p.(Asn334=)	NC_000001.10:g.9777666C>T	(Likely) benign	2 labs	49fa28248e
8:124989741 FER1L6 C>T	8	124989741	124989741	C	T	FER1L6	c.955C>T	NM_001039112.2	NP_001034201.2:p.(Arg319Trp)	NC_000008.10:g.124989741C>T	VUS	2 labs	49ffe79349
21:47864633 PCNT T>C	21	47864633	47864633	T	C	PCNT	c.9866T>C	NM_006031.5	NP_006022.3:p.(Leu3289Ser)	NC_000021.8:g.47864633T>C	(Likely) benign	2 labs	4a013cbf61
3:129238426 IFT122 T>A	3	129238426	129238426	T	A	IFT122	c.3640T>A	NM_052985.3	NP_443711.2:p.(Phe1214Ile)	NC_000003.11:g.129238426T>A	VUS	2 labs	4a04bdbb67
X:119293256 RHOXF2 C>T	X	119293256	119293256	C	T	RHOXF2	c.415C>T	NM_032498.2	NP_115887.1:p.(His139Tyr)	NC_000023.10:g.119293256C>T	(Likely) benign	2 labs	4a066477de
6:112469498 LAMA4 G>A	6	112469498	112469498	G	A	LAMA4	c.2214C>T	NM_001105206.3	NP_001098676.2:p.(Thr738=)	NC_000006.11:g.112469498G>A	(Likely) benign	3 labs	4a0c9da08e
22:36715576 MYH9 G>A	22	36715576	36715576	G	A	MYH9	c.1108+9C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36715576G>A	(Likely) benign	2 labs	4a0d54ca98
7:150649738 KCNH2 C>T	7	150649738	150649738	C	T	KCNH2	c.1332G>A	NM_000238.4	NP_000229.1:p.(Glu444=)	NC_000007.13:g.150649738C>T	(Likely) benign	3 labs	eef1429e76
X:153648024 TAFAZZIN C>T	X	153648024	153648024	C	T	TAFAZZIN	c.542-20C>T	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153648024C>T	(Likely) benign	5 labs	eef52a3ed3
20:3888898 PANK2 G>A	20	3888898	3888898	G	A	PANK2	c.81G>A	NM_001324191.2	NP_001311120.1:p.(Ala27=)	NC_000020.10:g.3888898G>A	(Likely) benign	2 labs	4a10c422c9
9:134397540 POMT1 C>T	9	134397540	134397540	C	T	POMT1	c.1932C>T	NM_001136113.1	NP_001129585.1:p.(Tyr644=)	NC_000009.11:g.134397540C>T	(Likely) benign	2 labs	4a1d97b363
19:13397323 CACNA1A C>T	19	13397323	13397323	C	T	CACNA1A	c.3559G>A	NM_023035.2	NP_075461.2:p.(Val1187Ile)	NC_000019.9:g.13397323C>T	(Likely) benign	2 labs	4a1ea152ae
7:87056192 ABCB4 A>G	7	87056192	87056192	A	G	ABCB4	c.1938T>C	NM_018849.3	NP_061337.1:p.(Asp646=)	NC_000007.13:g.87056192A>G	(Likely) benign	2 labs	eef7f74af3
14:53529669 DDHD1 A>T	14	53529669	53529669	A	T	DDHD1	c.1758T>A	NM_001160148.2	NP_001153620.1:p.(Thr586=)	NC_000014.8:g.53529669A>T	(Likely) benign	2 labs	eef84df904
X:153582380 FLNA G>A	X	153582380	153582380	G	A	FLNA	c.5589C>T	NM_001110556.2	NP_001104026.1:p.(Val1863=)	NC_000023.10:g.153582380G>A	(Likely) benign	2 labs	4a277f0ee6
11:111899579 DLAT A>G	11	111899579	111899579	A	G	DLAT	c.570A>G	NM_001931.5	NP_001922.2:p.(Gln190=)	NC_000011.9:g.111899579A>G	(Likely) benign	2 labs	eefb8798e4
17:17697093 RAI1 CCAGCAGCAGCAG>C	17	17697093	17697134	CCAGCAGCAGCAG	C	RAI1	c.861_872del	NM_030665.4	NP_109590.3:p.(Gln288_Gln291del)	NC_000017.10:g.17697123_17697134del	(Likely) benign	4 labs	4a2ab3322d
12:133196062 P2RX2 G>A	12	133196062	133196062	G	A	P2RX2	c.211G>A	NM_001282165.1	NP_001269094.1:p.(Glu71Lys)	NC_000012.11:g.133196062G>A	(Likely) benign	2 labs	4a2e703f72
6:7580878 DSP G>T	6	7580878	7580878	G	T	DSP	c.4455G>T	NM_004415.4	NP_004406.2:p.(Arg1485Ser)	NC_000006.11:g.7580878G>T	(Likely) benign	5 labs	4a3172c2cf
X:48117267 SSX1 G>C	X	48117267	48117267	G	C	SSX1	c.156G>C	NM_001278691.1	NP_001265620.1:p.(Lys52Asn)	NC_000023.10:g.48117267G>C	VUS	2 labs	4a31a40c7a
2:121744026 GLI2 C>G	2	121744026	121744026	C	G	GLI2	c.2129C>G	NM_005270.5	NP_005261.2:p.(Ala710Gly)	NC_000002.11:g.121744026C>G	VUS	2 labs	ef01b44121
4:5755542 EVC C>A	4	5755542	5755542	C	A	EVC	c.1346C>A	NM_153717.3	NP_714928.1:p.(Thr449Lys)	NC_000004.11:g.5755542C>A	(Likely) benign	2 labs	ef06d495c5
18:29118913 DSG2 C>T	18	29118913	29118913	C	T	DSG2	c.1851C>T	NM_001943.5	NP_001934.2:p.(Leu617=)	NC_000018.9:g.29118913C>T	(Likely) benign	4 labs	4a412d80c7
7:128487866 FLNC T>C	7	128487866	128487866	T	C	FLNC	c.4404T>C	NM_001458.5	NP_001449.3:p.(Asp1468=)	NC_000007.13:g.128487866T>C	(Likely) benign	3 labs	ef09cdba06
X:49069207 CACNA1F G>A	X	49069207	49069207	G	A	CACNA1F	c.3895C>T	NM_005183.4	NP_005174.2:p.(Arg1299Ter)	NC_000023.10:g.49069207G>A	(Likely) pathogenic	3 labs	4a458a7b16
7:147183143 CNTNAP2 A>G	7	147183143	147183143	A	G	CNTNAP2	c.1777+10A>G	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147183143A>G	(Likely) benign	3 labs	4a4fbf274c
1:12321134 VPS13D A>G	1	12321134	12321134	A	G	VPS13D	c.1342A>G	NM_015378.4	NP_056193.2:p.(Thr448Ala)	NC_000001.10:g.12321134A>G	(Likely) benign	2 labs	4a54b511e5
X:70467669 ZMYM3 C>T	X	70467669	70467669	C	T	ZMYM3	c.2063G>A	NM_001171162.1	NP_001164633.1:p.(Arg688His)	NC_000023.10:g.70467669C>T	VUS	2 labs	4a573c49f8
16:88780635 CTU2 GGTGTGGGTGT>G	16	88780635	88780658	GGTGTGGGTGT	G	CTU2	c.1097+14_1097+23del	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88780649_88780658del	(Likely) benign	2 labs	4a5f162cdd
11:47360070 MYBPC3 C>T	11	47360070	47360070	C	T	MYBPC3	c.2308+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360070C>T	(Likely) pathogenic	4 labs	4a5be7415e
1:179521743 NPHS2 C>T	1	179521743	179521743	C	T	NPHS2	c.868G>A	NM_014625.4	NP_055440.1:p.(Val290Met)	NC_000001.10:g.179521743C>T	(Likely) pathogenic	3 labs	4a698044f9
6:152563538 SYNE1 C>T	6	152563538	152563538	C	T	SYNE1	c.19517G>A	NM_033071.4	NP_149062.2:p.(Arg6506Gln)	NC_000006.11:g.152563538C>T	VUS	2 labs	4a71a13325
17:37822246 TCAP C>T	17	37822246	37822246	C	T	TCAP	c.388C>T	NM_003673.4	NP_003664.1:p.(Arg130Cys)	NC_000017.10:g.37822246C>T	VUS	2 labs	ef163f72f1
2:26700373 OTOF G>A	2	26700373	26700373	G	A	OTOF	c.2317C>T	NM_194248.2	NP_919224.1:p.(Arg773Cys)	NC_000002.11:g.26700373G>A	(Likely) benign	3 labs	4a78145306
18:51025880 DCC G>GGTAAA	18	51025880	51025888	G	GGTAAA	DCC	c.4111+4_4111+8dup	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.51025884_51025888dup	(Likely) benign	2 labs	4a7ea503c4
17:42428954 GRN G>A	17	42428954	42428954	G	A	GRN	c.970G>A	NM_002087.4	NP_002078.1:p.(Ala324Thr)	NC_000017.10:g.42428954G>A	(Likely) benign	3 labs	ef1e0e8047
10:123276979 FGFR2 T>C	10	123276979	123276979	T	C	FGFR2	c.940-2A>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123276979T>C	(Likely) pathogenic	2 labs	4a9ad93433
13:23905711 SACS A>G	13	23905711	23905711	A	G	SACS	c.12304T>C	NM_014363.5	NP_055178.3:p.(Leu4102=)	NC_000013.10:g.23905711A>G	(Likely) benign	2 labs	4aa42ab543
2:110883266 NPHP1 G>A	2	110883266	110883266	G	A	NPHP1	c.1885-8C>T	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110883266G>A	(Likely) benign	2 labs	4aa493395a
3:39450232 RPSA T>C	3	39450232	39450232	T	C	RPSA	c.267+2T>C	NM_001304288.1	NP_001291217.1:p.?	NC_000003.11:g.39450232T>C	(Likely) benign	2 labs	4aa93d3eb3
16:3789571 CREBBP A>G	16	3789571	3789571	A	G	CREBBP	c.4280+8T>C	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3789571A>G	(Likely) benign	2 labs	4abc872098
11:47353745 MYBPC3 C>CTGAA	11	47353745	47353749	C	CTGAA	MYBPC3	c.3688_3691dup	NM_000256.3	NP_000247.2:p.(Ser1231IlefsTer12)	NC_000011.9:g.47353746_47353749dup	(Likely) pathogenic	2 labs	ef248a143d
9:139396882 NOTCH1 G>A	9	139396882	139396882	G	A	NOTCH1	c.5226C>T	NM_017617.5	NP_060087.3:p.(Ala1742=)	NC_000009.11:g.139396882G>A	(Likely) benign	2 labs	4ac71304de
3:132241682 DNAJC13 C>T	3	132241682	132241682	C	T	DNAJC13	c.5699C>T	NM_001329126.2	NP_001316055.1:p.(Thr1900Met)	NC_000003.11:g.132241682C>T	(Likely) benign	2 labs	4accf78a11
8:10467576 RP1L1 T>C	8	10467576	10467576	T	C	RP1L1	c.4032A>G	NM_178857.6	NP_849188.4:p.(Thr1344=)	NC_000008.10:g.10467576T>C	(Likely) benign	3 labs	4ad03fd34e
11:61730029 BEST1 C>T	11	61730029	61730029	C	T	BEST1	c.1223C>T	NM_001139443.1	NP_001132915.1:p.(Pro408Leu)	NC_000011.9:g.61730029C>T	VUS	2 labs	4acff32893
2:179416808 TTN C>A	2	179416808	179416808	C	A	TTN	c.90819G>T	NM_001267550.2	NP_001254479.2:p.(Lys30273Asn)	NC_000002.11:g.179416808C>A	VUS	2 labs	4ad853cd12
12:80936038 MISSING T>G	12	80936038	80936038	T	G	MISSING				NC_000012.11:g.80936038T>G	VUS	2 labs	4ae25b246f
1:47726087 STIL T>C	1	47726087	47726087	T	C	STIL	c.2954A>G	NM_001048166.1	NP_001041631.1:p.(His985Arg)	NC_000001.10:g.47726087T>C	(Likely) benign	3 labs	ef273d3f15
6:56397132 DST T>C	6	56397132	56397132	T	C	DST	c.10751+10A>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56397132T>C	(Likely) benign	3 labs	4ae7f6ed92
8:48882589 MCM4 G>C	8	48882589	48882589	G	C	MCM4	c.1406G>C	NM_005914.4	NP_005905.2:p.(Ser469Thr)	NC_000008.10:g.48882589G>C	VUS	2 labs	4af74321ce
11:102991693 DYNC2H1 C>T	11	102991693	102991693	C	T	DYNC2H1	c.1288C>T	NM_001080463.2	NP_001073932.1:p.(Arg430Cys)	NC_000011.9:g.102991693C>T	(Likely) pathogenic	2 labs	4af958b43b
17:48277281 COL1A1 C>T	17	48277281	48277281	C	T	COL1A1	c.131G>A	NM_000088.4	NP_000079.2:p.(Gly44Asp)	NC_000017.10:g.48277281C>T	VUS	4 labs	4af14a5797
3:30664701 TGFBR2 G>A	3	30664701	30664701	G	A	TGFBR2	c.105G>A	NM_001024847.2	NP_001020018.1:p.(Met35Ile)	NC_000003.11:g.30664701G>A	(Likely) benign	2 labs	4b17f55cac
16:5128817 ALG1 G>A	16	5128817	5128817	G	A	ALG1	c.800G>A	NM_019109.4	NP_061982.3:p.(Ser267Asn)	NC_000016.9:g.5128817G>A	(Likely) benign	2 labs	4b14456400
2:47708010 MSH2 G>C	2	47708010	47708010	G	C	MSH2	c.2634G>C	NM_000251.2	NP_000242.1:p.(Glu878Asp)	NC_000002.11:g.47708010G>C	(Likely) pathogenic	2 labs	4b1b2399db
3:43602803 ANO10 C>T	3	43602803	43602803	C	T	ANO10	c.1385G>A	NM_001204831.3	NP_001191760.1:p.(Arg462Gln)	NC_000003.11:g.43602803C>T	(Likely) benign	3 labs	4b278ed992
9:20933030 FOCAD A>C	9	20933030	20933030	A	C	FOCAD	c.3335A>C	NM_017794.4	NP_060264.4:p.(Glu1112Ala)	NC_000009.11:g.20933030A>C	(Likely) benign	2 labs	4b2ba867a0
2:163167419 IFIH1 T>C	2	163167419	163167419	T	C	IFIH1	c.478A>G	NM_022168.4	NP_071451.2:p.(Asn160Asp)	NC_000002.11:g.163167419T>C	(Likely) benign	3 labs	ef48758caa
1:120483244 NOTCH2 C>T	1	120483244	120483244	C	T	NOTCH2	c.3117G>A	NM_024408.3	NP_077719.2:p.(Thr1039=)	NC_000001.10:g.120483244C>T	(Likely) benign	2 labs	4b34597f7a
1:207648197 CR2 T>C	1	207648197	207648197	T	C	CR2	c.2352T>C	NM_001006658.2	NP_001006659.1:p.(Ile784=)	NC_000001.10:g.207648197T>C	(Likely) benign	2 labs	4b346e5fec
9:5081778 JAK2 C>T	9	5081778	5081778	C	T	JAK2	c.2488C>T	NM_001322194.1	NP_001309123.1:p.(Leu830=)	NC_000009.11:g.5081778C>T	(Likely) benign	2 labs	4b3bc982b5
6:32809425 PSMB8 C>T	6	32809425	32809425	C	T	PSMB8	c.613G>A	NM_004159.5	NP_004150.1:p.(Gly205Arg)	NC_000006.11:g.32809425C>T	VUS	2 labs	4b4375980b
14:88407734 GALC G>C	14	88407734	88407734	G	C	GALC	c.1834+5C>G	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88407734G>C	(Likely) benign	2 labs	ef4b77d30a
X:130419322 IGSF1 C>G	X	130419322	130419322	C	G	IGSF1	c.498G>C	NM_001170961.2	NP_001164432.1:p.(Glu166Asp)	NC_000023.10:g.130419322C>G	(Likely) benign	4 labs	4b51eeb6ba
16:56947189 SLC12A3 G>A	16	56947189	56947189	G	A	SLC12A3	c.2965G>A	NM_000339.2	NP_000330.2:p.(Gly989Arg)	NC_000016.9:g.56947189G>A	(Likely) pathogenic	3 labs	4b58fd1ac4
3:46008841 FYCO1 G>A	3	46008841	46008841	G	A	FYCO1	c.1985C>T	NM_024513.3	NP_078789.2:p.(Ser662Phe)	NC_000003.11:g.46008841G>A	(Likely) benign	2 labs	4b5bd9fe4d
17:29562692 NF1 T>C	17	29562692	29562692	T	C	NF1	c.3772T>C	NM_000267.3	NP_000258.1:p.(Trp1258Arg)	NC_000017.10:g.29562692T>C	(Likely) pathogenic	2 labs	4b5fed8905
10:89717754 PTEN A>G	10	89717754	89717754	A	G	PTEN	c.779A>G	NM_000314.8	NP_000305.3:p.(Lys260Arg)	NC_000010.10:g.89717754A>G	VUS	4 labs	ef4f1fb326
1:183197677 LAMC2 C>A	1	183197677	183197677	C	A	LAMC2	c.1637C>A	NM_005562.3	NP_005553.2:p.(Ala546Asp)	NC_000001.10:g.183197677C>A	(Likely) benign	3 labs	4b83dc634f
14:91739030 CCDC88C G>A	14	91739030	91739030	G	A	CCDC88C	c.6026C>T	NM_001080414.4	NP_001073883.2:p.(Pro2009Leu)	NC_000014.8:g.91739030G>A	VUS	3 labs	4b83f645e9
4:16002200 PROM1 G>A	4	16002200	16002200	G	A	PROM1	c.1470C>T	NM_001145847.2	NP_001139319.1:p.(Ile490=)	NC_000004.11:g.16002200G>A	(Likely) benign	2 labs	4b82759f6a
17:73732223 ITGB4 C>T	17	73732223	73732223	C	T	ITGB4	c.1749C>T	NM_000213.4	NP_000204.3:p.(Ile583=)	NC_000017.10:g.73732223C>T	(Likely) benign	2 labs	4b88b3b184
2:170063380 LRP2 T>C	2	170063380	170063380	T	C	LRP2	c.6850A>G	NM_004525.3	NP_004516.2:p.(Thr2284Ala)	NC_000002.11:g.170063380T>C	(Likely) benign	5 labs	4b8fff66ac
17:29652931 NF1 G>A	17	29652931	29652931	G	A	NF1	c.4929G>A	NM_001042492.3	NP_001035957.1:p.(Val1643=)	NC_000017.10:g.29652931G>A	(Likely) benign	2 labs	4b9001ba83
6:7563982 DSP C>T	6	7563982	7563982	C	T	DSP	c.740C>T	NM_004415.4	NP_004406.2:p.(Ala247Val)	NC_000006.11:g.7563982C>T	VUS	2 labs	4b9cfd0b70
8:145638299 SLC39A4 C>G	8	145638299	145638299	C	G	SLC39A4	c.1584G>C	NM_017767.2	NP_060237.2:p.(Leu528=)	NC_000008.10:g.145638299C>G	(Likely) benign	2 labs	4ba3b04471
1:215953355 USH2A G>A	1	215953355	215953355	G	A	USH2A	c.10769C>T	NM_206933.4	NP_996816.3:p.(Pro3590Leu)	NC_000001.10:g.215953355G>A	(Likely) benign	3 labs	4ba6b2b3f0
11:22247513 ANO5 A>AT	11	22247513	22247522	A	AT	ANO5	c.295-8dup	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22247522dup	(Likely) benign	3 labs	ef671e9654
19:39056164 RYR1 C>G	19	39056164	39056164	C	G	RYR1	c.13190C>G	NM_000540.2	NP_000531.2:p.(Ala4397Gly)	NC_000019.9:g.39056164C>G	(Likely) benign	2 labs	4bbebd6819
10:123279606 FGFR2 A>C	10	123279606	123279606	A	C	FGFR2	c.826T>G	NM_000141.4	NP_000132.3:p.(Phe276Val)	NC_000010.10:g.123279606A>C	(Likely) pathogenic	2 labs	4bc6c53168
17:29508775 NF1 G>A	17	29508775	29508775	G	A	NF1	c.702G>A	NM_000267.3	NP_000258.1:p.(Leu234=)	NC_000017.10:g.29508775G>A	(Likely) benign	4 labs	4bcc869bef
11:6662745 DCHS1 CCAG>C	11	6662745	6662771	CCAG	C	DCHS1	c.97_99del	NM_003737.4	NP_003728.1:p.(Leu33del)	NC_000011.9:g.6662769_6662771del	(Likely) benign	2 labs	ef67e93b0a
1:152283466 FLG C>T	1	152283466	152283466	C	T	FLG	c.3896G>A	NM_002016.1	NP_002007.1:p.(Arg1299Gln)	NC_000001.10:g.152283466C>T	(Likely) benign	2 labs	4bcaa56a2e
2:166245633 SCN2A G>A	2	166245633	166245633	G	A	SCN2A	c.5317G>A	NM_021007.2	NP_066287.2:p.(Ala1773Thr)	NC_000002.11:g.166245633G>A	(Likely) pathogenic	2 labs	4bcb3d5fc0
11:57373646 SERPING1 C>T	11	57373646	57373646	C	T	SERPING1	c.849C>T	NM_000062.2	NP_000053.2:p.(Ser283=)	NC_000011.9:g.57373646C>T	(Likely) benign	2 labs	4bcc477505
9:140128118 SLC34A3 G>A	9	140128118	140128118	G	A	SLC34A3	c.790G>A	NM_001177317.1	NP_001170788.1:p.(Gly264Ser)	NC_000009.11:g.140128118G>A	(Likely) benign	2 labs	4bcc6a3943
12:32949187 PKP2 A>G	12	32949187	32949187	A	G	PKP2	c.2345T>C	NM_004572.4	NP_004563.2:p.(Val782Ala)	NC_000012.11:g.32949187A>G	VUS	3 labs	ef6a98e67b
5:131007226 FNIP1 C>A	5	131007226	131007226	C	A	FNIP1	c.2911G>T	NM_133372.3	NP_588613.3:p.(Ala971Ser)	NC_000005.9:g.131007226C>A	(Likely) benign	2 labs	4bdcec9866
12:2797746 CACNA1C G>A	12	2797746	2797746	G	A	CACNA1C	c.6167G>A	NM_199460.4	NP_955630.3:p.(Arg2056Gln)	NC_000012.11:g.2797746G>A	(Likely) benign	4 labs	4bdbccab75
X:153221711 HCFC1 G>A	X	153221711	153221711	G	A	HCFC1	c.2787C>T	NM_005334.2	NP_005325.2:p.(Ile929=)	NC_000023.10:g.153221711G>A	(Likely) benign	2 labs	4be00fcb9d
17:59938933 BRIP1 A>G	17	59938933	59938933	A	G	BRIP1	c.-30-3T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59938933A>G	(Likely) benign	4 labs	4be18510ef
14:55509919 SOCS4 G>A	14	55509919	55509919	G	A	SOCS4	c.160G>A	NM_199421.2	NP_955453.1:p.(Gly54Ser)	NC_000014.8:g.55509919G>A	(Likely) benign	2 labs	4bf134b0a7
1:8421875 RERE G>A	1	8421875	8421875	G	A	RERE	c.1964C>T	NM_012102.3	NP_036234.3:p.(Ala655Val)	NC_000001.10:g.8421875G>A	(Likely) benign	2 labs	4bf3069eae
10:50701156 ERCC6 G>A	10	50701156	50701156	G	A	ERCC6	c.1821+7C>T	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50701156G>A	(Likely) benign	3 labs	4bf54c8177
7:21582963 DNAH11 G>T	7	21582963	21582963	G	T	DNAH11	c.100G>T	NM_001277115.2	NP_001264044.1:p.(Glu34Ter)	NC_000007.13:g.21582963G>T	(Likely) benign	2 labs	4c0ac1c5f0
15:85189511 WDR73 C>T	15	85189511	85189511	C	T	WDR73	c.421G>A	NM_032856.3	NP_116245.2:p.(Val141Ile)	NC_000015.9:g.85189511C>T	(Likely) benign	2 labs	4c0772a87e
7:47925510 PKD1L1 T>A	7	47925510	47925510	T	A	PKD1L1	c.2979A>T	NM_138295.4	NP_612152.1:p.(Ser993=)	NC_000007.13:g.47925510T>A	(Likely) benign	2 labs	4c0b0ebc5d
6:32800564 TAP2 G>C	6	32800564	32800564	G	C	TAP2	c.983C>G	NM_001290043.1	NP_001276972.1:p.(Ala328Gly)	NC_000006.11:g.32800564G>C	(Likely) benign	2 labs	4c141048a7
17:29585422 NF1 A>G	17	29585422	29585422	A	G	NF1	c.4171A>G	NM_000267.3	NP_000258.1:p.(Arg1391Gly)	NC_000017.10:g.29585422A>G	(Likely) pathogenic	2 labs	4c1c482568
12:49422893 KMT2D G>A	12	49422893	49422893	G	A	KMT2D	c.14202C>T	NM_003482.3	NP_003473.3:p.(Asp4734=)	NC_000012.11:g.49422893G>A	(Likely) benign	2 labs	4c205fb6ef
19:4818152 TICAM1 C>T	19	4818152	4818152	C	T	TICAM1	c.238G>A	NM_182919.3	NP_891549.1:p.(Val80Met)	NC_000019.9:g.4818152C>T	(Likely) benign	2 labs	4c21953f7b
11:76916644 MYO7A G>A	11	76916644	76916644	G	A	MYO7A	c.5618G>A	NM_000260.3	NP_000251.3:p.(Arg1873Gln)	NC_000011.9:g.76916644G>A	(Likely) pathogenic	3 labs	4c2ca1c751
18:43505732 EPG5 T>C	18	43505732	43505732	T	C	EPG5	c.2690A>G	NM_020964.3	NP_066015.2:p.(Glu897Gly)	NC_000018.9:g.43505732T>C	VUS	2 labs	4c2d24c94e
15:85406064 ALPK3 T>C	15	85406064	85406064	T	C	ALPK3	c.4328T>C	NM_020778.5	NP_065829.4:p.(Ile1443Thr)	NC_000015.9:g.85406064T>C	VUS	2 labs	ef71f637d1
2:179423212 TTN A>C	2	179423212	179423212	A	C	TTN	c.86974T>G	NM_001267550.2	NP_001254479.2:p.(Cys28992Gly)	NC_000002.11:g.179423212A>C	VUS	3 labs	4c3c006de8
4:166929209 TLL1 C>T	4	166929209	166929209	C	T	TLL1	c.917+9C>T	NM_012464.4	NP_036596.3:p.?	NC_000004.11:g.166929209C>T	(Likely) benign	2 labs	4c47e3fd45
16:50757276 NOD2 G>A	16	50757276	50757276	G	A	NOD2	c.2863G>A	NM_022162.3	NP_071445.1:p.(Val955Ile)	NC_000016.9:g.50757276G>A	(Likely) benign	3 labs	4c58232c76
X:152823563 ATP2B3 C>T	X	152823563	152823563	C	T	ATP2B3	c.2434-7C>T	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152823563C>T	(Likely) benign	2 labs	4c5a17ce61
8:100146901 VPS13B G>T	8	100146901	100146901	G	T	VPS13B	c.1248G>T	NM_017890.4	NP_060360.3:p.(Gln416His)	NC_000008.10:g.100146901G>T	VUS	3 labs	4c6056dbdc
7:107302171 SLC26A4 G>C	7	107302171	107302171	G	C	SLC26A4	c.85G>C	NM_000441.1	NP_000432.1:p.(Glu29Gln)	NC_000007.13:g.107302171G>C	(Likely) pathogenic	2 labs	4c613a008d
7:117232416 CFTR T>G	7	117232416	117232416	T	G	CFTR	c.2195T>G	NM_000492.4	NP_000483.3:p.(Leu732Ter)	NC_000007.13:g.117232416T>G	(Likely) pathogenic	2 labs	4c6f40f587
2:145156549 ZEB2 A>G	2	145156549	145156549	A	G	ZEB2	c.2205T>C	NM_014795.4	NP_055610.1:p.(Pro735=)	NC_000002.11:g.145156549A>G	VUS	2 labs	4c706e2a5b
11:65838061 PACS1 A>C	11	65838061	65838061	A	C	PACS1	c.104A>C	NM_018026.3	NP_060496.2:p.(Gln35Pro)	NC_000011.9:g.65838061A>C	(Likely) benign	2 labs	4c7187a7c4
2:152490236 NEB C>T	2	152490236	152490236	C	T	NEB	c.9346G>A	NM_001271208.2	NP_001258137.2:p.(Glu3116Lys)	NC_000002.11:g.152490236C>T	(Likely) benign	4 labs	4c712226b5
19:42795295 CIC C>T	19	42795295	42795295	C	T	CIC	c.5102C>T	NM_001304815.1	NP_001291744.1:p.(Ala1701Val)	NC_000019.9:g.42795295C>T	(Likely) benign	2 labs	4c7a6eae7f
X:119004814 RNF113A C>T	X	119004814	119004814	C	T	RNF113A	c.763G>A	NM_006978.2	NP_008909.1:p.(Asp255Asn)	NC_000023.10:g.119004814C>T	(Likely) benign	2 labs	4c80557082
9:108366499 FKTN G>A	9	108366499	108366499	G	A	FKTN	c.373G>A	NM_006731.2	NP_006722.2:p.(Gly125Ser)	NC_000009.11:g.108366499G>A	(Likely) benign	3 labs	4c9c0480e3
8:32621630 NRG1 C>T	8	32621630	32621630	C	T	NRG1	c.1648C>T	NM_013956.4	NP_039250.2:p.(Arg550Trp)	NC_000008.10:g.32621630C>T	(Likely) benign	2 labs	4c9c94629b
6:33154366 COL11A2 G>T	6	33154366	33154366	G	T	COL11A2	c.836C>A	NM_001163771.1	NP_001157243.1:p.(Pro279His)	NC_000006.11:g.33154366G>T	(Likely) benign	2 labs	4ca95081c1
1:104086049 RNPC3 A>C	1	104086049	104086049	A	C	RNPC3	c.1025A>C	NM_017619.4	NP_060089.1:p.(Asn342Thr)	NC_000001.10:g.104086049A>C	(Likely) benign	2 labs	4cb447efe6
11:17656735 OTOG G>A	11	17656735	17656735	G	A	OTOG	c.7729+1G>A	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17656735G>A	(Likely) pathogenic	2 labs	4cb6efeaf7
6:146755560 GRM1 T>G	6	146755560	146755560	T	G	GRM1	c.3213T>G	NM_001278064.2	NP_001264993.1:p.(Pro1071=)	NC_000006.11:g.146755560T>G	(Likely) benign	2 labs	4cbbd86743
12:69103039 NUP107 A>T	12	69103039	69103039	A	T	NUP107	c.664A>T	NM_001330192.1	NP_001317121.1:p.(Thr222Ser)	NC_000012.11:g.69103039A>T	(Likely) benign	2 labs	4cc18c0dea
X:119562384 LAMP2 A>G	X	119562384	119562384	A	G	LAMP2	c.1191T>C	NM_001122606.1	NP_001116078.1:p.(Tyr397=)	NC_000023.10:g.119562384A>G	(Likely) benign	2 labs	4cb90661b3
2:15470841 NBAS T>C	2	15470841	15470841	T	C	NBAS	c.4228A>G	NM_015909.4	NP_056993.2:p.(Thr1410Ala)	NC_000002.11:g.15470841T>C	VUS	4 labs	4cc72c679b
1:237789076 RYR2 A>G	1	237789076	237789076	A	G	RYR2	c.6138A>G	NM_001035.2	NP_001026.2:p.(Lys2046=)	NC_000001.10:g.237789076A>G	(Likely) benign	2 labs	4ccadf6848
19:13323494 CACNA1A G>A	19	13323494	13323494	G	A	CACNA1A	c.6019C>T	NM_023035.2	NP_075461.2:p.(Pro2007Ser)	NC_000019.9:g.13323494G>A	(Likely) benign	2 labs	4ccb5fab83
6:7571824 DSP T>C	6	7571824	7571824	T	C	DSP	c.1903+7T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571824T>C	(Likely) benign	4 labs	4ccaa0d63f
17:73824121 UNC13D T>C	17	73824121	73824121	T	C	UNC13D	c.3198A>G	NM_199242.3	NP_954712.1:p.(Glu1066=)	NC_000017.10:g.73824121T>C	(Likely) benign	3 labs	4ccfa2ee2c
11:103047007 DYNC2H1 C>A	11	103047007	103047007	C	A	DYNC2H1	c.5718C>A	NM_001080463.2	NP_001073932.1:p.(Thr1906=)	NC_000011.9:g.103047007C>A	(Likely) benign	3 labs	4cd82d9e4e
1:46660538 POMGNT1 C>A	1	46660538	46660538	C	A	POMGNT1	c.630G>T	NM_001243766.2	NP_001230695.2:p.(Trp210Cys)	NC_000001.10:g.46660538C>A	(Likely) pathogenic	2 labs	4ce5dd3d33
11:45975128 PHF21A T>C	11	45975128	45975128	T	C	PHF21A	c.1042A>G	NM_001101802.1	NP_001095272.1:p.(Thr348Ala)	NC_000011.9:g.45975128T>C	VUS	2 labs	4ce7221bd2
18:47788544 CFAP53 T>G	18	47788544	47788544	T	G	CFAP53	c.115A>C	NM_145020.4	NP_659457.2:p.(Arg39=)	NC_000018.9:g.47788544T>G	(Likely) benign	2 labs	4ceb101223
19:7706655 STXBP2 G>A	19	7706655	7706655	G	A	STXBP2	c.527G>A	NM_001272034.1	NP_001258963.1:p.(Arg176His)	NC_000019.9:g.7706655G>A	(Likely) benign	2 labs	4cf63e8913
8:30998961 WRN G>A	8	30998961	30998961	G	A	WRN	c.2983G>A	NM_000553.4	NP_000544.2:p.(Ala995Thr)	NC_000008.10:g.30998961G>A	(Likely) benign	2 labs	4cfab9ac3a
3:132401600 NPHP3 C>T	3	132401600	132401600	C	T	NPHP3	c.3759G>A	NM_153240.4	NP_694972.3:p.(Leu1253=)	NC_000003.11:g.132401600C>T	(Likely) benign	3 labs	4d04fb8b0c
10:112583294 RBM20 G>A	10	112583294	112583294	G	A	RBM20	c.3373G>A	NM_001134363.3	NP_001127835.2:p.(Glu1125Lys)	NC_000010.10:g.112583294G>A	(Likely) benign	4 labs	ef872b11c3
3:8787199 CAV3 G>C	3	8787199	8787199	G	C	CAV3	c.115-13G>C	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8787199G>C	(Likely) benign	2 labs	4d125e31de
9:2047456 SMARCA2 G>C	9	2047456	2047456	G	C	SMARCA2	c.1018G>C	NM_003070.4	NP_003061.3:p.(Val340Leu)	NC_000009.11:g.2047456G>C	VUS	2 labs	4d137ec12a
2:179398784 TTN G>A	2	179398784	179398784	G	A	TTN	c.102558C>T	NM_001267550.2	NP_001254479.2:p.(Thr34186=)	NC_000002.11:g.179398784G>A	(Likely) benign	2 labs	ef88c06f8f
9:136412255 ADAMTSL2 A>C	9	136412255	136412255	A	C	ADAMTSL2	c.859A>C	NM_001145320.2	NP_001138792.1:p.(Arg287=)	NC_000009.11:g.136412255A>C	(Likely) benign	3 labs	ef8d729ad7
2:179429754 TTN G>T	2	179429754	179429754	G	T	TTN	c.81105C>A	NM_001267550.2	NP_001254479.2:p.(Thr27035=)	NC_000002.11:g.179429754G>T	(Likely) benign	5 labs	4d1aa23c09
X:152960651 SLC6A8 G>C	X	152960651	152960651	G	C	SLC6A8	c.1890G>C	NM_005629.3	NP_005620.1:p.(Val630=)	NC_000023.10:g.152960651G>C	(Likely) benign	2 labs	4d1f133f74
2:179430158 TTN T>C	2	179430158	179430158	T	C	TTN	c.80701A>G	NM_001267550.2	NP_001254479.2:p.(Ile26901Val)	NC_000002.11:g.179430158T>C	(Likely) benign	5 labs	ef8fce7926
14:102445646 DYNC1H1 T>G	14	102445646	102445646	T	G	DYNC1H1	c.345-10T>G	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102445646T>G	(Likely) benign	3 labs	4d21195e11
17:41256279 BRCA1 C>T	17	41256279	41256279	C	T	BRCA1	c.302-1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256279C>T	(Likely) pathogenic	2 labs	ef925de158
13:51530530 RNASEH2B G>T	13	51530530	51530530	G	T	RNASEH2B	c.859G>T	NM_024570.3	NP_078846.2:p.(Ala287Ser)	NC_000013.10:g.51530530G>T	(Likely) benign	2 labs	4d2caf6b0a
8:43025782 HGSNAT A>G	8	43025782	43025782	A	G	HGSNAT	c.688A>G	NM_001363227.1	NP_001350156.1:p.(Thr230Ala)	NC_000008.10:g.43025782A>G	(Likely) benign	2 labs	4d369a73eb
19:18899463 COMP G>A	19	18899463	18899463	G	A	COMP	c.700C>T	NM_000095.3	NP_000086.2:p.(Pro234Ser)	NC_000019.9:g.18899463G>A	VUS	3 labs	4d377a8650
17:10541515 MYH3 C>T	17	10541515	10541515	C	T	MYH3	c.3574G>A	NM_002470.4	NP_002461.2:p.(Ala1192Thr)	NC_000017.10:g.10541515C>T	(Likely) benign	3 labs	ef929cda87
8:61102552 CA8 C>CA	8	61102552	61102568	C	CA	CA8	c.*36-9dup	NM_004056.5	NP_004047.3:p.?	NC_000008.10:g.61102568dup	(Likely) benign	2 labs	4d430be9b0
19:12921138 RNASEH2A G>A	19	12921138	12921138	G	A	RNASEH2A	c.557G>A	NM_006397.2	NP_006388.2:p.(Arg186Gln)	NC_000019.9:g.12921138G>A	(Likely) pathogenic	2 labs	4d449a5e8f
1:103544224 COL11A1 C>T	1	103544224	103544224	C	T	COL11A1	c.478G>A	NM_080629.2	NP_542196.2:p.(Ala160Thr)	NC_000001.10:g.103544224C>T	VUS	2 labs	4d4c791950
19:11123622 SMARCA4 C>A	19	11123622	11123622	C	A	SMARCA4	c.2275-3C>A	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11123622C>A	(Likely) benign	5 labs	4d51dff438
11:78180283 NARS2 A>G	11	78180283	78180283	A	G	NARS2	c.1026+10T>C	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78180283A>G	(Likely) benign	2 labs	4d517006ef
2:179426207 TTN C>T	2	179426207	179426207	C	T	TTN	c.84652G>A	NM_001267550.2	NP_001254479.2:p.(Gly28218Ser)	NC_000002.11:g.179426207C>T	VUS	3 labs	4d521310ef
17:17696363 RAI1 G>A	17	17696363	17696363	G	A	RAI1	c.101G>A	NM_030665.4	NP_109590.3:p.(Ser34Asn)	NC_000017.10:g.17696363G>A	(Likely) benign	2 labs	efa2b10e22
X:71427424 ERCC6L C>T	X	71427424	71427424	C	T	ERCC6L	c.824G>A	NM_001009954.2	NP_001009954.1:p.(Arg275His)	NC_000023.10:g.71427424C>T	VUS	2 labs	4d62190253
1:228346276 GJC2 G>C	1	228346276	228346276	G	C	GJC2	c.817G>C	NM_020435.3	NP_065168.2:p.(Val273Leu)	NC_000001.10:g.228346276G>C	VUS	2 labs	4d717b89c3
2:170349380 BBS5 A>G	2	170349380	170349380	A	G	BBS5	c.387-4A>G	NM_152384.2	NP_689597.1:p.?	NC_000002.11:g.170349380A>G	(Likely) benign	2 labs	4d72d171b1
5:94860229 SKIC3 G>A	5	94860229	94860229	G	A	SKIC3	c.1392C>T	NM_014639.3	NP_055454.1:p.(Tyr464=)	NC_000005.9:g.94860229G>A	(Likely) benign	2 labs	4d7eb9c2a5
2:179442329 TTN C>T	2	179442329	179442329	C	T	TTN	c.68824G>A	NM_001267550.2	NP_001254479.2:p.(Glu22942Lys)	NC_000002.11:g.179442329C>T	VUS	5 labs	4d8463330f
12:103306579 PAH C>T	12	103306579	103306579	C	T	PAH	c.158G>A	NM_000277.1	NP_000268.1:p.(Arg53His)	NC_000012.11:g.103306579C>T	VUS	2 labs	4d90178988
18:67687966 RTTN C>A	18	67687966	67687966	C	A	RTTN	c.6038G>T	NM_173630.3	NP_775901.3:p.(Cys2013Phe)	NC_000018.9:g.67687966C>A	(Likely) benign	2 labs	4d99229144
16:47684830 PHKB C>T	16	47684830	47684830	C	T	PHKB	c.1948C>T	NM_001031835.3	NP_001027005.1:p.(Gln650Ter)	NC_000016.9:g.47684830C>T	(Likely) pathogenic	2 labs	4da0721cd6
2:228113175 COL4A3 A>G	2	228113175	228113175	A	G	COL4A3	c.485A>G	NM_000091.5	NP_000082.2:p.(Glu162Gly)	NC_000002.11:g.228113175A>G	(Likely) benign	2 labs	efb0c59b9f
3:41267276 CTNNB1 A>G	3	41267276	41267276	A	G	CTNNB1	c.860A>G	NM_001904.4	NP_001895.1:p.(Asn287Ser)	NC_000003.11:g.41267276A>G	(Likely) benign	2 labs	efb99bcaea
7:6026384 PMS2 C>T	7	6026384	6026384	C	T	PMS2	c.2006+6G>A	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6026384C>T	(Likely) benign	3 labs	4da1a391f7
3:38639283 SCN5A G>T	3	38639283	38639283	G	T	SCN5A	c.2199C>A	NM_001099404.1	NP_001092874.1:p.(Phe733Leu)	NC_000003.11:g.38639283G>T	VUS	2 labs	4da6646552
22:36661733 APOL1 G>A	22	36661733	36661733	G	A	APOL1	c.899G>A	NM_145343.2	NP_663318.1:p.(Arg300His)	NC_000022.10:g.36661733G>A	(Likely) benign	2 labs	4dad5ed0bd
X:70586196 TAF1 C>T	X	70586196	70586196	C	T	TAF1	c.32C>T	NM_001286074.1	NP_001273003.1:p.(Thr11Ile)	NC_000023.10:g.70586196C>T	(Likely) benign	2 labs	4db66e0ebb
12:123738430 MTRFR CA>C	12	123738430	123738431	CA	C	MTRFR	c.210del	NM_152269.5	NP_689482.1:p.(Gly72AlafsTer13)	NC_000012.11:g.123738431del	(Likely) pathogenic	3 labs	4db6fb5ed0
16:74760199 FA2H C>T	16	74760199	74760199	C	T	FA2H	c.537G>A	NM_024306.5	NP_077282.3:p.(Leu179=)	NC_000016.9:g.74760199C>T	(Likely) benign	2 labs	4db96bfa96
X:134156452 RTL8B G>A	X	134156452	134156452	G	A	RTL8B	c.38C>T	NM_001078173.1	NP_001071641.1:p.(Ala13Val)	NC_000023.10:g.134156452G>A	(Likely) benign	2 labs	4db6096d7e
6:167343199 RNASET2 C>T	6	167343199	167343199	C	T	RNASET2	c.648G>A	NM_003730.6	NP_003721.2:p.(Pro216=)	NC_000006.11:g.167343199C>T	(Likely) benign	2 labs	4dafb5c9ee
11:47372836 MYBPC3 A>G	11	47372836	47372836	A	G	MYBPC3	c.246T>C	NM_000256.3	NP_000247.2:p.(Ile82=)	NC_000011.9:g.47372836A>G	(Likely) benign	3 labs	4dafcd16e9
1:201328371 TNNT2 G>A	1	201328371	201328371	G	A	TNNT2	c.834C>T	NM_001276347.2	NP_001263276.1:p.(Arg278=)	NC_000001.10:g.201328371G>A	(Likely) benign	2 labs	4dce047841
14:100406340 EML1 A>G	14	100406340	100406340	A	G	EML1	c.2396A>G	NM_001008707.1	NP_001008707.1:p.(Tyr799Cys)	NC_000014.8:g.100406340A>G	VUS	2 labs	4dd259daed
22:50967740 TYMP C>T	22	50967740	50967740	C	T	TYMP	c.242G>A	NM_001113756.2	NP_001107228.1:p.(Arg81Gln)	NC_000022.10:g.50967740C>T	(Likely) benign	2 labs	4dd312c4de
13:32910988 BRCA2 G>A	13	32910988	32910988	G	A	BRCA2	c.2496G>A	NM_000059.3	NP_000050.2:p.(Glu832=)	NC_000013.10:g.32910988G>A	(Likely) benign	3 labs	4dd7ec577e
6:111632420 REV3L T>C	6	111632420	111632420	T	C	REV3L	c.8647A>G	NM_002912.5	NP_002903.3:p.(Ile2883Val)	NC_000006.11:g.111632420T>C	VUS	2 labs	4dec775b02
8:63978658 TTPA TA>T	8	63978658	63978666	TA	T	TTPA	c.359-3del	NM_000370.3	NP_000361.1:p.?	NC_000008.10:g.63978666del	(Likely) benign	2 labs	4df4854b71
1:24192103 FUCA1 C>G	1	24192103	24192103	C	G	FUCA1	c.402G>C	NM_000147.4	NP_000138.2:p.(Leu134Phe)	NC_000001.10:g.24192103C>G	(Likely) benign	2 labs	4df5eec551
2:152530990 NEB C>T	2	152530990	152530990	C	T	NEB	c.3987+1G>A	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152530990C>T	(Likely) pathogenic	2 labs	4df7c8fe40
15:42168418 SPTBN5 T>A	15	42168418	42168418	T	A	SPTBN5	c.4016A>T	NM_016642.4	NP_057726.4:p.(His1339Leu)	NC_000015.9:g.42168418T>A	(Likely) benign	2 labs	4dfb4d7d4a
15:65943251 SLC24A1 T>C	15	65943251	65943251	T	C	SLC24A1	c.2764T>C	NM_004727.3	NP_004718.1:p.(Trp922Arg)	NC_000015.9:g.65943251T>C	VUS	2 labs	4e016b1021
2:220011430 NHEJ1 T>C	2	220011430	220011430	T	C	NHEJ1	c.560A>G	NM_024782.2	NP_079058.1:p.(Asn187Ser)	NC_000002.11:g.220011430T>C	(Likely) benign	2 labs	4e01c42c64
X:153577773 FLNA G>A	X	153577773	153577773	G	A	FLNA	c.7713C>T	NM_001110556.2	NP_001104026.1:p.(Tyr2571=)	NC_000023.10:g.153577773G>A	(Likely) benign	3 labs	4e09daa516
11:77823696 ALG8 C>T	11	77823696	77823696	C	T	ALG8	c.898G>A	NM_024079.5	NP_076984.2:p.(Gly300Ser)	NC_000011.9:g.77823696C>T	VUS	2 labs	efca8b8207
4:88537072 DSPP TAGCAGTGACAGCAGCAATAGCAGTGAC>T	4	88537072	88537104	TAGCAGTGACAGCAGCAATAGCAGTGAC	T	DSPP	c.3264_3290del	NM_014208.3	NP_055023.2:p.(Asn1092_Ser1100del)	NC_000004.11:g.88537078_88537104del	(Likely) benign	2 labs	4e1128631f
12:21998563 ABCC9 T>C	12	21998563	21998563	T	C	ABCC9	c.3070A>G	NM_020297.4	NP_064693.2:p.(Ile1024Val)	NC_000012.11:g.21998563T>C	(Likely) benign	3 labs	4e1514758b
2:31564244 XDH A>G	2	31564244	31564244	A	G	XDH	c.3536T>C	NM_000379.4	NP_000370.2:p.(Ile1179Thr)	NC_000002.11:g.31564244A>G	VUS	3 labs	4e17361043
10:102587376 PAX2 G>A	10	102587376	102587376	G	A	PAX2	c.1235G>A	NM_003990.4	NP_003981.3:p.(Ser412Asn)	NC_000010.10:g.102587376G>A	(Likely) benign	3 labs	4e20b10714
11:31815634 PAX6 C>T	11	31815634	31815634	C	T	PAX6	c.303G>A	NM_001310160.1	NP_001297089.1:p.(Val101=)	NC_000011.9:g.31815634C>T	(Likely) benign	3 labs	4e26f7d9f3
1:11316091 MTOR G>C	1	11316091	11316091	G	C	MTOR	c.663C>G	NM_004958.3	NP_004949.1:p.(Thr221=)	NC_000001.10:g.11316091G>C	(Likely) benign	3 labs	4e2a85a911
X:154004579 DKC1 G>A	X	154004579	154004579	G	A	DKC1	c.1456G>A	NM_001363.3	NP_001354.1:p.(Gly486Arg)	NC_000023.10:g.154004579G>A	(Likely) benign	2 labs	4e2adaefcd
18:29078275 DSG2 G>C	18	29078275	29078275	G	C	DSG2	c.45+16G>C	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29078275G>C	(Likely) benign	3 labs	4e39b7f50a
X:153640417 TAFAZZIN C>T	X	153640417	153640417	C	T	TAFAZZIN	c.110-6C>T	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640417C>T	(Likely) benign	2 labs	4e410794e9
15:40914476 KNL1 A>C	15	40914476	40914476	A	C	KNL1	c.2092A>C	NM_170589.4	NP_733468.3:p.(Ile698Leu)	NC_000015.9:g.40914476A>C	(Likely) benign	3 labs	4e45c14667
X:37641368 CYBB C>T	X	37641368	37641368	C	T	CYBB	c.73C>T	NM_000397.4	NP_000388.2:p.(Leu25Phe)	NC_000023.10:g.37641368C>T	VUS	2 labs	efdf69498f
5:147499902 SPINK5 G>GGAGC	5	147499902	147499906	G	GGAGC	SPINK5	c.2487_2490dup	NM_001127698.1	NP_001121170.1:p.(Asn831GlufsTer15)	NC_000005.9:g.147499903_147499906dup	(Likely) pathogenic	2 labs	4e563ab264
9:117240906 WHRN C>T	9	117240906	117240906	C	T	WHRN	c.764G>A	NM_015404.4	NP_056219.3:p.(Gly255Asp)	NC_000009.11:g.117240906C>T	(Likely) benign	2 labs	4e4c139436
11:76853773 MYO7A G>C	11	76853773	76853773	G	C	MYO7A	c.37G>C	NM_000260.3	NP_000251.3:p.(Asp13His)	NC_000011.9:g.76853773G>C	VUS	3 labs	4e59d7758d
X:47775540 ZNF81 A>G	X	47775540	47775540	A	G	ZNF81	c.1495A>G	NM_007137.3	NP_009068.2:p.(Ile499Val)	NC_000023.10:g.47775540A>G	(Likely) benign	2 labs	4e5e8521c9
17:29588751 NF1 C>T	17	29588751	29588751	C	T	NF1	c.4537C>T	NM_000267.3	NP_000258.1:p.(Arg1513Ter)	NC_000017.10:g.29588751C>T	(Likely) pathogenic	2 labs	4e61cfbf59
2:179631091 TTN A>T	2	179631091	179631091	A	T	TTN	c.9703+17T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179631091A>T	(Likely) benign	5 labs	efeb1d027c
1:218610662 TGFB2 CT>C	1	218610662	218610679	CT	C	TGFB2	c.1017-6del	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218610679del	(Likely) benign	3 labs	4e66ec65c9
3:128625035 ACAD9 A>G	3	128625035	128625035	A	G	ACAD9	c.1221A>G	NM_014049.4	NP_054768.2:p.(Thr407=)	NC_000003.11:g.128625035A>G	(Likely) benign	2 labs	4e6b7df7a7
6:152629772 SYNE1 G>A	6	152629772	152629772	G	A	SYNE1	c.17203-5C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152629772G>A	(Likely) benign	2 labs	4e6e388bca
5:240563 SDHA C>T	5	240563	240563	C	T	SDHA	c.1523C>T	NM_004168.4	NP_004159.2:p.(Thr508Ile)	NC_000005.9:g.240563C>T	(Likely) benign	2 labs	efefd7eaa3
3:142268372 ATR C>T	3	142268372	142268372	C	T	ATR	c.3120G>A	NM_001184.3	NP_001175.2:p.(Leu1040=)	NC_000003.11:g.142268372C>T	(Likely) benign	2 labs	4e75a85582
8:10469454 RP1L1 G>T	8	10469454	10469454	G	T	RP1L1	c.2154C>A	NM_178857.5	NP_849188.4:p.(Asn718Lys)	NC_000008.10:g.10469454G>T	(Likely) benign	2 labs	4e7996cb8a
10:88439190 LDB3 G>A	10	88439190	88439190	G	A	LDB3	c.160G>A	NM_001171610.2	NP_001165081.1:p.(Gly54Ser)	NC_000010.10:g.88439190G>A	VUS	5 labs	4e7bef1597
8:17143918 VPS37A A>G	8	17143918	17143918	A	G	VPS37A	c.888A>G	NM_001363172.1	NP_001350101.1:p.(Gln296=)	NC_000008.10:g.17143918A>G	(Likely) benign	2 labs	4e7e25b68f
1:228474715 OBSCN C>T	1	228474715	228474715	C	T	OBSCN	c.10806C>T	NM_001271223.2	NP_001258152.2:p.(Cys3602=)	NC_000001.10:g.228474715C>T	(Likely) benign	2 labs	4e800072f5
15:78398100 CIB2 T>G	15	78398100	78398100	T	G	CIB2	c.523A>C	NM_006383.3	NP_006374.1:p.(Lys175Gln)	NC_000015.9:g.78398100T>G	VUS	2 labs	4e8105f109
17:41243998 BRCA1 CT>A	17	41243998	41243999	CT	A	BRCA1	c.3549_3550delinsT	NM_007294.3	NP_009225.1:p.(Lys1183AsnfsTer27)	NC_000017.10:g.41243998_41243999delinsA	(Likely) pathogenic	2 labs	4e81a445d1
4:1795736 FGFR3 G>A	4	1795736	1795736	G	A	FGFR3	c.75G>A	NM_001163213.1	NP_001156685.1:p.(Leu25=)	NC_000004.11:g.1795736G>A	(Likely) benign	2 labs	4e8ead6a32
17:78013697 CCDC40 G>A	17	78013697	78013697	G	A	CCDC40	c.180G>A	NM_017950.3	NP_060420.2:p.(Ala60=)	NC_000017.10:g.78013697G>A	(Likely) benign	2 labs	4e9ac694e6
2:71838443 DYSF C>T	2	71838443	71838443	C	T	DYSF	c.4023C>T	NM_001130981.2	NP_001124453.1:p.(Asn1341=)	NC_000002.11:g.71838443C>T	(Likely) benign	2 labs	eff28b2b84
16:89350577 ANKRD11 C>T	16	89350577	89350577	C	T	ANKRD11	c.2373G>A	NM_001256182.1	NP_001243111.1:p.(Lys791=)	NC_000016.9:g.89350577C>T	(Likely) benign	2 labs	4ea265d588
3:155547508 SLC33A1 T>G	3	155547508	155547508	T	G	SLC33A1	c.1451A>C	NM_004733.3	NP_004724.1:p.(Asn484Thr)	NC_000003.11:g.155547508T>G	(Likely) benign	3 labs	4eaf929739
2:179472259 TTN A>G	2	179472259	179472259	A	G	TTN	c.53156T>C	NM_001267550.2	NP_001254479.2:p.(Val17719Ala)	NC_000002.11:g.179472259A>G	VUS	2 labs	4ebec08cb5
17:29554235 NF1 G>A	17	29554235	29554235	G	A	NF1	c.2252-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554235G>A	(Likely) pathogenic	2 labs	4eb3903e7f
13:36909893 SPART T>C	13	36909893	36909893	T	C	SPART	c.75A>G	NM_001142296.1	NP_001135768.1:p.(Leu25=)	NC_000013.10:g.36909893T>C	(Likely) benign	2 labs	4eb7a56f7a
19:55451656 NLRP7 G>A	19	55451656	55451656	G	A	NLRP7	c.531C>T	NM_001127255.1	NP_001120727.1:p.(His177=)	NC_000019.9:g.55451656G>A	(Likely) benign	2 labs	4ebf0c2a39
10:79739936 POLR3A A>G	10	79739936	79739936	A	G	POLR3A	c.3987T>C	NM_007055.3	NP_008986.2:p.(Phe1329=)	NC_000010.10:g.79739936A>G	(Likely) benign	2 labs	4ec0aa6dab
11:4112956 STIM1 C>A	11	4112956	4112956	C	A	STIM1	c.2304C>A	NM_001277961.3	NP_001264890.1:p.(Gly768=)	NC_000011.9:g.4112956C>A	(Likely) benign	4 labs	4eafaf5d80
X:77381307 PGK1 G>A	X	77381307	77381307	G	A	PGK1	c.1234G>A	NM_000291.4	NP_000282.1:p.(Asp412Asn)	NC_000023.10:g.77381307G>A	(Likely) benign	2 labs	4eb450b3d2
1:5935013 NPHP4 C>T	1	5935013	5935013	C	T	NPHP4	c.2965G>A	NM_015102.5	NP_055917.1:p.(Glu989Lys)	NC_000001.10:g.5935013C>T	VUS	3 labs	4ec330a562
X:119580269 LAMP2 A>C	X	119580269	119580269	A	C	LAMP2	c.755T>G	NM_002294.3	NP_002285.1:p.(Ile252Ser)	NC_000023.10:g.119580269A>C	(Likely) benign	4 labs	4ed5f12cf9
6:152553376 SYNE1 G>A	6	152553376	152553376	G	A	SYNE1	c.20737C>T	NM_182961.3	NP_892006.3:p.(Arg6913Cys)	NC_000006.11:g.152553376G>A	VUS	2 labs	4edcf1d6ee
18:12351342 AFG3L2 C>T	18	12351342	12351342	C	T	AFG3L2	c.1389G>A	NM_006796.3	NP_006787.2:p.(Leu463=)	NC_000018.9:g.12351342C>T	(Likely) benign	3 labs	4ee6fedddb
12:52845531 KRT6B C>T	12	52845531	52845531	C	T	KRT6B	c.332G>A	NM_005555.4	NP_005546.2:p.(Gly111Asp)	NC_000012.11:g.52845531C>T	(Likely) benign	2 labs	4eeaf33a34
12:80699419 OTOGL A>C	12	80699419	80699419	A	C	OTOGL	c.3250A>C	NM_173591.3	NP_775862.3:p.(Asn1084His)	NC_000012.11:g.80699419A>C	VUS	2 labs	4eebc43aac
19:39218649 ACTN4 G>A	19	39218649	39218649	G	A	ACTN4	c.2401G>A	NM_004924.5	NP_004915.2:p.(Val801Met)	NC_000019.9:g.39218649G>A	(Likely) benign	4 labs	4eec68d882
22:36714321 MYH9 G>A	22	36714321	36714321	G	A	MYH9	c.1158C>T	NM_002473.6	NP_002464.1:p.(Thr386=)	NC_000022.10:g.36714321G>A	(Likely) benign	3 labs	4ee2c2c414
18:34182695 FHOD3 G>A	18	34182695	34182695	G	A	FHOD3	c.777G>A	NM_025135.5	NP_079411.2:p.(Thr259=)	NC_000018.9:g.34182695G>A	(Likely) benign	2 labs	4efdc876ba
15:31320637 TRPM1 A>C	15	31320637	31320637	A	C	TRPM1	c.3242T>G	NM_001252020.1	NP_001238949.1:p.(Leu1081Arg)	NC_000015.9:g.31320637A>C	VUS	2 labs	4ef3ea114c
1:156108511 LMNA G>A	1	156108511	156108511	G	A	LMNA	c.1931G>A	NM_170707.4	NP_733821.1:p.(Arg644His)	NC_000001.10:g.156108511G>A	VUS	3 labs	4ef2451327
22:17589516 IL17RA C>T	22	17589516	17589516	C	T	IL17RA	c.1407C>T	NM_014339.6	NP_055154.3:p.(Cys469=)	NC_000022.10:g.17589516C>T	(Likely) benign	2 labs	4f03dc8782
21:45708237 AIRE C>A	21	45708237	45708237	C	A	AIRE				NC_000021.8:g.45708237C>A	(Likely) benign	3 labs	4f0db0ee72
12:109539799 UNG G>A	12	109539799	109539799	G	A	UNG	c.501G>A	NM_003362.3	NP_003353.1:p.(Pro167=)	NC_000012.11:g.109539799G>A	(Likely) benign	2 labs	4f1b86c3d6
11:2608850 KCNQ1 G>T	11	2608850	2608850	G	T	KCNQ1	c.1179G>T	NM_000218.3	NP_000209.2:p.(Lys393Asn)	NC_000011.9:g.2608850G>T	(Likely) benign	4 labs	4f201a1d5f
8:48765303 PRKDC A>G	8	48765303	48765303	A	G	PRKDC	c.6936T>C	NM_001081640.1	NP_001075109.1:p.(Tyr2312=)	NC_000008.10:g.48765303A>G	(Likely) benign	3 labs	4f32b3d43c
8:145738261 RECQL4 A>G	8	145738261	145738261	A	G	RECQL4	c.2724T>C	NM_004260.3	NP_004251.3:p.(Leu908=)	NC_000008.10:g.145738261A>G	(Likely) benign	2 labs	4f34583df7
12:8995919 A2ML1 G>A	12	8995919	8995919	G	A	A2ML1	c.1438G>A	NM_144670.5	NP_653271.2:p.(Asp480Asn)	NC_000012.11:g.8995919G>A	(Likely) benign	2 labs	4f3bc461f2
15:42116737 MAPKBP1 C>T	15	42116737	42116737	C	T	MAPKBP1	c.4287C>T	NM_001128608.1	NP_001122080.1:p.(Ser1429=)	NC_000015.9:g.42116737C>T	(Likely) benign	2 labs	4f3bd8e496
13:23927963 SACS G>A	13	23927963	23927963	G	A	SACS	c.2146C>T	NM_014363.5	NP_055178.3:p.(His716Tyr)	NC_000013.10:g.23927963G>A	(Likely) benign	3 labs	4f3d2fd033
5:1420788 SLC6A3 C>T	5	1420788	1420788	C	T	SLC6A3	c.823G>A	NM_001044.4	NP_001035.1:p.(Val275Met)	NC_000005.9:g.1420788C>T	VUS	2 labs	4f49f6b6dd
16:2156159 PKD1 G>A	16	2156159	2156159	G	A	PKD1	c.7636C>T	NM_001009944.2	NP_001009944.2:p.(His2546Tyr)	NC_000016.9:g.2156159G>A	(Likely) benign	3 labs	4f4c3d604a
5:169477389 DOCK2 G>T	5	169477389	169477389	G	T	DOCK2	c.4201G>T	NM_004946.3	NP_004937.1:p.(Ala1401Ser)	NC_000005.9:g.169477389G>T	(Likely) benign	2 labs	4f4fb849fe
12:23696277 SOX5 G>A	12	23696277	23696277	G	A	SOX5	c.1600C>T	NM_152989.4	NP_694534.1:p.(Arg534Ter)	NC_000012.11:g.23696277G>A	(Likely) pathogenic	2 labs	4f5ca77e78
14:64574288 SYNE2 G>A	14	64574288	64574288	G	A	SYNE2	c.12572G>A	NM_182914.3	NP_878918.2:p.(Gly4191Asp)	NC_000014.8:g.64574288G>A	(Likely) benign	3 labs	4f67c50ded
4:6279336 WFS1 C>A	4	6279336	6279336	C	A	WFS1	c.154C>A	NM_006005.3	NP_005996.2:p.(Pro52Thr)	NC_000004.11:g.6279336C>A	(Likely) benign	2 labs	4f667a8d9e
5:13824302 DNAH5 T>C	5	13824302	13824302	T	C	DNAH5	c.6579+6A>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13824302T>C	(Likely) benign	2 labs	4f6739588f
21:47545911 COL6A2 G>A	21	47545911	47545911	G	A	COL6A2	c.2182G>A	NM_058175.3	NP_478055.2:p.(Val728Met)	NC_000021.8:g.47545911G>A	VUS	3 labs	4f6f3be31c
5:40972517 C7 T>C	5	40972517	40972517	T	C	C7	c.1895T>C	NM_000587.2	NP_000578.2:p.(Val632Ala)	NC_000005.9:g.40972517T>C	(Likely) benign	2 labs	4f7515f7f7
15:89868740 POLG G>A	15	89868740	89868740	G	A	POLG	c.1890C>T	NM_002693.2	NP_002684.1:p.(Asn630=)	NC_000015.9:g.89868740G>A	(Likely) benign	2 labs	4f7702a77f
3:48614349 COL7A1 C>T	3	48614349	48614349	C	T	COL7A1	c.5572G>A	NM_000094.4	NP_000085.1:p.(Glu1858Lys)	NC_000003.11:g.48614349C>T	VUS	2 labs	4f7cb3cec1
3:10103845 FANCD2 C>T	3	10103845	10103845	C	T	FANCD2	c.1777C>T	NM_001319984.1	NP_001306913.1:p.(Pro593Ser)	NC_000003.11:g.10103845C>T	(Likely) benign	2 labs	4f7e365c42
10:78669727 KCNMA1 G>A	10	78669727	78669727	G	A	KCNMA1	c.3072C>T	NM_001322830.1	NP_001309759.1:p.(Ser1024=)	NC_000010.10:g.78669727G>A	(Likely) benign	2 labs	4f84b23bfd
19:36211339 KMT2B G>A	19	36211339	36211339	G	A	KMT2B	c.1090G>A	NM_014727.2	NP_055542.1:p.(Glu364Lys)	NC_000019.9:g.36211339G>A	(Likely) benign	2 labs	4f899ebcbd
16:51175655 SALL1 C>CGCTGCT	16	51175655	51175685	C	CGCTGCT	SALL1	c.472_477dup	NM_002968.3	NP_002959.2:p.(Ser158_Ser159dup)	NC_000016.9:g.51175680_51175685dup	(Likely) benign	3 labs	4f95a94b12
16:1245509 CACNA1H G>C	16	1245509	1245509	G	C	CACNA1H	c.489G>C	NM_021098.3	NP_066921.2:p.(Gln163His)	NC_000016.9:g.1245509G>C	(Likely) benign	3 labs	f01a370d81
1:5937168 NPHP4 G>A	1	5937168	5937168	G	A	NPHP4	c.2802C>T	NM_015102.5	NP_055917.1:p.(Arg934=)	NC_000001.10:g.5937168G>A	(Likely) benign	3 labs	4fa62f268a
17:66518940 PRKAR1A G>A	17	66518940	66518940	G	A	PRKAR1A	c.221G>A	NM_002734.5	NP_002725.1:p.(Arg74His)	NC_000017.10:g.66518940G>A	(Likely) benign	3 labs	f01c542975
13:32954261 BRCA2 G>A	13	32954261	32954261	G	A	BRCA2	c.9235G>A	NM_000059.4	NP_000050.3:p.(Val3079Ile)	NC_000013.10:g.32954261G>A	(Likely) benign	4 labs	f01d642fb5
4:55131118 PDGFRA C>T	4	55131118	55131118	C	T	PDGFRA	c.661C>T	NM_006206.6	NP_006197.1:p.(Leu221Phe)	NC_000004.11:g.55131118C>T	(Likely) benign	4 labs	4fc78968ea
16:1616239 IFT140 T>C	16	1616239	1616239	T	C	IFT140	c.1824A>G	NM_014714.3	NP_055529.2:p.(Thr608=)	NC_000016.9:g.1616239T>C	(Likely) benign	2 labs	4fca29aabe
15:25653788 UBE3A T>C	15	25653788	25653788	T	C	UBE3A	c.8A>G	NM_000462.5	NP_000453.2:p.(Lys3Arg)	NC_000015.9:g.25653788T>C	VUS	2 labs	4fd25ad336
13:39266540 FREM2 G>T	13	39266540	39266540	G	T	FREM2	c.5059G>T	NM_207361.5	NP_997244.4:p.(Glu1687Ter)	NC_000013.10:g.39266540G>T	VUS	2 labs	4fd2a225fc
3:37045965 MLH1 G>A	3	37045965	37045965	G	A	MLH1	c.380G>A	NM_000249.3	NP_000240.1:p.(Arg127Lys)	NC_000003.11:g.37045965G>A	(Likely) pathogenic	2 labs	4fd3cd7305
7:117227887 CFTR G>C	7	117227887	117227887	G	C	CFTR	c.1679G>C	NM_000492.4	NP_000483.3:p.(Arg560Thr)	NC_000007.13:g.117227887G>C	(Likely) pathogenic	2 labs	4fdfecdfbe
7:33388713 BBS9 G>A	7	33388713	33388713	G	A	BBS9	c.1363G>A	NM_198428.3	NP_940820.1:p.(Ala455Thr)	NC_000007.13:g.33388713G>A	(Likely) benign	3 labs	4fe0ee3339
2:202591969 ALS2 T>G	2	202591969	202591969	T	G	ALS2	c.2945A>C	NM_020919.4	NP_065970.2:p.(Gln982Pro)	NC_000002.11:g.202591969T>G	VUS	3 labs	4ff02078f7
17:29654524 NF1 C>T	17	29654524	29654524	C	T	NF1	c.5213C>T	NM_000267.3	NP_000258.1:p.(Ser1738Phe)	NC_000017.10:g.29654524C>T	(Likely) pathogenic	2 labs	4ff50437f2
2:179597790 TTN A>G	2	179597790	179597790	A	G	TTN	c.16113T>C	NM_001267550.1	NP_001254479.1:p.(Asn5371=)	NC_000002.11:g.179597790A>G	(Likely) benign	2 labs	4ff66e9f00
14:68215240 ZFYVE26 G>A	14	68215240	68215240	G	A	ZFYVE26	c.7533C>T	NM_015346.3	NP_056161.2:p.(Ser2511=)	NC_000014.8:g.68215240G>A	(Likely) benign	2 labs	4ff735fda4
7:117174420 CFTR G>T	7	117174420	117174420	G	T	CFTR	c.579+1G>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117174420G>T	(Likely) pathogenic	4 labs	5000a16716
19:50902164 POLD1 G>A	19	50902164	50902164	G	A	POLD1	c.56G>A	NM_001256849.1	NP_001243778.1:p.(Arg19His)	NC_000019.9:g.50902164G>A	(Likely) benign	2 labs	50002c20c5
3:10089670 FANCD2 A>G	3	10089670	10089670	A	G	FANCD2	c.1348A>G	NM_033084.3	NP_149075.2:p.(Ile450Val)	NC_000003.11:g.10089670A>G	(Likely) benign	2 labs	5009327d44
10:27460008 MASTL A>T	10	27460008	27460008	A	T	MASTL	c.2120A>T	NM_001320757.1	NP_001307686.1:p.(His707Leu)	NC_000010.10:g.27460008A>T	(Likely) benign	2 labs	5009b9fe75
7:148106477 CNTNAP2 C>G	7	148106477	148106477	C	G	CNTNAP2	c.3716-6C>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.148106477C>G	(Likely) benign	2 labs	500ada187b
20:25057172 VSX1 AT>A	20	25057172	25057178	AT	A	VSX1	c.822del	NM_014588.6	NP_055403.2:p.(Lys274AsnfsTer5)	NC_000020.10:g.25057178del	(Likely) pathogenic	2 labs	5006b05943
15:94882585 MCTP2 A>G	15	94882585	94882585	A	G	MCTP2	c.704A>G	NM_018349.4	NP_060819.3:p.(Tyr235Cys)	NC_000015.9:g.94882585A>G	VUS	2 labs	f027b91e9a
2:179398606 TTN G>A	2	179398606	179398606	G	A	TTN	c.102736C>T	NM_001267550.2	NP_001254479.2:p.(Arg34246Cys)	NC_000002.11:g.179398606G>A	VUS	3 labs	f02bf650f2
11:63990865 FERMT3 C>T	11	63990865	63990865	C	T	FERMT3	c.1905C>T	NM_178443.3	NP_848537.1:p.(Ile635=)	NC_000011.9:g.63990865C>T	(Likely) benign	2 labs	f02c37075c
11:18332978 HPS5 G>A	11	18332978	18332978	G	A	HPS5	c.240C>T	NM_181507.2	NP_852608.1:p.(Val80=)	NC_000011.9:g.18332978G>A	(Likely) benign	2 labs	501b1ead94
19:50779379 MYH14 G>A	19	50779379	50779379	G	A	MYH14	c.3599G>A	NM_001145809.2	NP_001139281.1:p.(Arg1200Gln)	NC_000019.9:g.50779379G>A	VUS	2 labs	501c227cf9
14:92347680 FBLN5 A>G	14	92347680	92347680	A	G	FBLN5	c.945T>C	NM_006329.4	NP_006320.2:p.(Ile315=)	NC_000014.8:g.92347680A>G	(Likely) benign	3 labs	f02d12f28a
17:59858254 BRIP1 G>A	17	59858254	59858254	G	A	BRIP1	c.1741C>T	NM_032043.3	NP_114432.2:p.(Arg581Ter)	NC_000017.10:g.59858254G>A	(Likely) pathogenic	4 labs	f02fe9560b
15:89402346 ACAN T>C	15	89402346	89402346	T	C	ACAN	c.6530T>C	NM_013227.4	NP_037359.3:p.(Val2177Ala)	NC_000015.9:g.89402346T>C	(Likely) benign	2 labs	f032fa9e56
1:207943690 CD46 C>T	1	207943690	207943690	C	T	CD46	c.971C>T	NM_002389.4	NP_002380.3:p.(Pro324Leu)	NC_000001.10:g.207943690C>T	VUS	2 labs	5035da3ce1
11:119149011 CBL C>T	11	119149011	119149011	C	T	CBL	c.1227+4C>T	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119149011C>T	(Likely) benign	5 labs	503b90fce0
21:45714287 AIRE G>A	21	45714287	45714287	G	A	AIRE				NC_000021.8:g.45714287G>A	(Likely) benign	4 labs	504080b2c1
5:149773043 TCOF1 G>A	5	149773043	149773043	G	A	TCOF1	c.3709G>A	NM_001135243.1	NP_001128715.1:p.(Ala1237Thr)	NC_000005.9:g.149773043G>A	(Likely) benign	2 labs	504a9bbce2
1:120529671 NOTCH2 A>G	1	120529671	120529671	A	G	NOTCH2	c.786T>C	NM_024408.3	NP_077719.2:p.(Asp262=)	NC_000001.10:g.120529671A>G	(Likely) benign	2 labs	504dbb1d50
2:179639770 TTN T>A	2	179639770	179639770	T	A	TTN	c.6668A>T	NM_001267550.2	NP_001254479.2:p.(His2223Leu)	NC_000002.11:g.179639770T>A	VUS	3 labs	f0348bc103
20:5294763 PROKR2 G>A	20	5294763	5294763	G	A	PROKR2	c.253C>T	NM_144773.3	NP_658986.1:p.(Arg85Cys)	NC_000020.10:g.5294763G>A	VUS	2 labs	5052f7ea2a
1:200961441 KIF21B G>A	1	200961441	200961441	G	A	KIF21B	c.2354C>T	NM_017596.4	NP_060066.2:p.(Ala785Val)	NC_000001.10:g.200961441G>A	VUS	2 labs	505d355641
11:6651549 DCHS1 G>C	11	6651549	6651549	G	C	DCHS1				NC_000011.9:g.6651549G>C	(Likely) benign	2 labs	505fb8419b
21:46925352 COL18A1 GTC>G	21	46925352	46925355	GTC	G	COL18A1	c.3087+9_3087+10del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46925354_46925355del	(Likely) benign	2 labs	5060f3d8b1
6:7579570 DSP G>A	6	7579570	7579570	G	A	DSP	c.3147G>A	NM_004415.4	NP_004406.2:p.(Ser1049=)	NC_000006.11:g.7579570G>A	(Likely) benign	3 labs	5062b53be3
6:7569481 DSP C>T	6	7569481	7569481	C	T	DSP	c.1482C>T	NM_004415.4	NP_004406.2:p.(Tyr494=)	NC_000006.11:g.7569481C>T	(Likely) benign	2 labs	5060fc7a45
4:79240135 FRAS1 G>A	4	79240135	79240135	G	A	FRAS1	c.2132G>A	NM_025074.7	NP_079350.5:p.(Cys711Tyr)	NC_000004.11:g.79240135G>A	VUS	2 labs	f03d239b90
9:14759775 FREM1 T>C	9	14759775	14759775	T	C	FREM1	c.5329A>G	NM_144966.5	NP_659403.4:p.(Ile1777Val)	NC_000009.11:g.14759775T>C	(Likely) benign	2 labs	507567551d
17:7123479 ACADVL GC>G	17	7123479	7123482	GC	G	ACADVL	c.104del	NM_000018.4	NP_000009.1:p.(Pro35LeufsTer26)	NC_000017.10:g.7123482del	(Likely) pathogenic	2 labs	5075d1dc31
12:48379557 COL2A1 T>C	12	48379557	48379557	T	C	COL2A1	c.1634A>G	NM_001844.4	NP_001835.3:p.(Asn545Ser)	NC_000012.11:g.48379557T>C	(Likely) benign	2 labs	50786bf0d9
1:8419854 RERE T>C	1	8419854	8419854	T	C	RERE	c.3588A>G	NM_012102.4	NP_036234.3:p.(Arg1196=)	NC_000001.10:g.8419854T>C	(Likely) benign	2 labs	507a7db1f1
19:7143074 INSR G>A	19	7143074	7143074	G	A	INSR	c.2295C>T	NM_000208.3	NP_000199.2:p.(Gly765=)	NC_000019.9:g.7143074G>A	(Likely) benign	3 labs	5089e77c5b
2:73746923 ALMS1 C>T	2	73746923	73746923	C	T	ALMS1	c.9564C>T	NM_015120.4	NP_055935.4:p.(Thr3188=)	NC_000002.11:g.73746923C>T	(Likely) benign	2 labs	f03ddee8b5
3:134266236 CEP63 AC>A	3	134266236	134266237	AC	A	CEP63	c.990del	NM_001353108.3	NP_001340037.1:p.(Asp330GlufsTer7)	NC_000003.11:g.134266237del	VUS	2 labs	509870c243
8:100123329 VPS13B C>G	8	100123329	100123329	C	G	VPS13B	c.584C>G	NM_017890.5	NP_060360.3:p.(Thr195Ser)	NC_000008.10:g.100123329C>G	VUS	4 labs	50a2ddad33
11:17574923 OTOG G>A	11	17574923	17574923	G	A	OTOG	c.433G>A	NM_001277269.1	NP_001264198.1:p.(Gly145Ser)	NC_000011.9:g.17574923G>A	VUS	2 labs	509f8ae750
9:139403378 NOTCH1 C>T	9	139403378	139403378	C	T	NOTCH1	c.3115G>A	NM_017617.5	NP_060087.3:p.(Gly1039Ser)	NC_000009.11:g.139403378C>T	(Likely) benign	2 labs	50a3f3a934
12:112926270 PTPN11 C>T	12	112926270	112926270	C	T	PTPN11	c.1403C>T	NM_002834.5	NP_002825.3:p.(Thr468Met)	NC_000012.11:g.112926270C>T	(Likely) pathogenic	4 labs	50ae765bbb
12:124212422 ATP6V0A2 C>T	12	124212422	124212422	C	T	ATP6V0A2	c.614C>T	NM_012463.3	NP_036595.2:p.(Ala205Val)	NC_000012.11:g.124212422C>T	(Likely) benign	2 labs	50aa80e9d0
2:182423378 CERKL C>G	2	182423378	182423378	C	G	CERKL	c.813G>C	NM_001030311.3	NP_001025482.1:p.(Leu271=)	NC_000002.11:g.182423378C>G	(Likely) benign	2 labs	50aefbf94f
19:7703982 STXBP2 C>T	19	7703982	7703982	C	T	STXBP2	c.165C>T	NM_001272034.1	NP_001258963.1:p.(Ile55=)	NC_000019.9:g.7703982C>T	(Likely) benign	2 labs	50bfa8b37f
3:19938255 EFHB G>T	3	19938255	19938255	G	T	EFHB	c.1649C>A	NM_144715.4	NP_653316.3:p.(Ala550Glu)	NC_000003.11:g.19938255G>T	VUS	2 labs	50c4ccb246
17:41243494 BRCA1 C>T	17	41243494	41243494	C	T	BRCA1	c.4054G>A	NM_007294.4	NP_009225.1:p.(Glu1352Lys)	NC_000017.10:g.41243494C>T	VUS	2 labs	f04e581b88
12:66747308 GRIP1 A>G	12	66747308	66747308	A	G	GRIP1	c.2892T>C	NM_021150.3	NP_066973.2:p.(Phe964=)	NC_000012.11:g.66747308A>G	(Likely) benign	2 labs	50e172bb55
11:31822339 PAX6 G>C	11	31822339	31822339	G	C	PAX6	c.15C>G	NM_001310160.1	NP_001297089.1:p.(Gly5=)	NC_000011.9:g.31822339G>C	(Likely) benign	2 labs	50e30b359c
11:94204763 MRE11 A>G	11	94204763	94204763	A	G	MRE11	c.822T>C	NM_005590.3	NP_005581.2:p.(Leu274=)	NC_000011.9:g.94204763A>G	(Likely) benign	2 labs	50e68d2281
11:47364162 MYBPC3 C>T	11	47364162	47364162	C	T	MYBPC3	c.1591G>A	NM_000256.3	NP_000247.2:p.(Gly531Arg)	NC_000011.9:g.47364162C>T	(Likely) pathogenic	3 labs	50e9b364e3
2:39213367 SOS1 G>C	2	39213367	39213367	G	C	SOS1	c.3600C>G	NM_005633.3	NP_005624.2:p.(Asp1200Glu)	NC_000002.11:g.39213367G>C	(Likely) benign	3 labs	50ecc1f035
6:32825898 PSMB9 G>A	6	32825898	32825898	G	A	PSMB9	c.377G>A	NM_002800.5	NP_002791.1:p.(Arg126His)	NC_000006.11:g.32825898G>A	(Likely) benign	2 labs	50f52b917d
14:64691206 SYNE2 G>A	14	64691206	64691206	G	A	SYNE2	c.20410G>A	NM_182914.2	NP_878918.2:p.(Asp6804Asn)	NC_000014.8:g.64691206G>A	(Likely) benign	2 labs	50f9dadc2d
11:46917501 LRP4 G>A	11	46917501	46917501	G	A	LRP4	c.1117C>T	NM_002334.4	NP_002325.2:p.(Arg373Trp)	NC_000011.9:g.46917501G>A	(Likely) benign	2 labs	f05eff89c5
7:148112503 CNTNAP2 C>T	7	148112503	148112503	C	T	CNTNAP2	c.3797-6C>T	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.148112503C>T	(Likely) benign	2 labs	510607bf6d
18:32374062 DTNA G>A	18	32374062	32374062	G	A	DTNA	c.210G>A	NM_001198939.2	NP_001185868.1:p.(Leu70=)	NC_000018.9:g.32374062G>A	(Likely) benign	2 labs	f060abfb51
8:48739338 PRKDC C>G	8	48739338	48739338	C	G	PRKDC	c.8662G>C	NM_006904.6	NP_008835.5:p.(Val2888Leu)	NC_000008.10:g.48739338C>G	(Likely) benign	2 labs	510e8cc5af
16:30199713 CORO1A C>A	16	30199713	30199713	C	A	CORO1A	c.1097C>A	NM_007074.3	NP_009005.1:p.(Pro366His)	NC_000016.9:g.30199713C>A	(Likely) benign	2 labs	51169711bb
8:87666251 CNGB3 T>G	8	87666251	87666251	T	G	CNGB3	c.892A>C	NM_019098.5	NP_061971.3:p.(Thr298Pro)	NC_000008.10:g.87666251T>G	(Likely) benign	3 labs	512411ec03
14:64537425 SYNE2 A>G	14	64537425	64537425	A	G	SYNE2	c.10494A>G	NM_182914.2	NP_878918.2:p.(Thr3498=)	NC_000014.8:g.64537425A>G	(Likely) benign	2 labs	513f3ac8b6
14:77757743 POMT2 G>A	14	77757743	77757743	G	A	POMT2	c.1117-20C>T	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77757743G>A	(Likely) benign	3 labs	513e351a73
6:112537641 LAMA4 C>T	6	112537641	112537641	C	T	LAMA4	c.225G>A	NM_001105206.3	NP_001098676.2:p.(Leu75=)	NC_000006.11:g.112537641C>T	(Likely) benign	3 labs	515026b276
16:2112977 TSC2 G>A	16	2112977	2112977	G	A	TSC2	c.1366G>A	NM_000548.5	NP_000539.2:p.(Glu456Lys)	NC_000016.9:g.2112977G>A	VUS	2 labs	f078015303
19:36594063 WDR62 C>T	19	36594063	36594063	C	T	WDR62	c.3468C>T	NM_001083961.1	NP_001077430.1:p.(Leu1156=)	NC_000019.9:g.36594063C>T	(Likely) benign	2 labs	51504b787b
X:47486726 CFP C>T	X	47486726	47486726	C	T	CFP	c.580G>A	NM_002621.2	NP_002612.1:p.(Gly194Arg)	NC_000023.10:g.47486726C>T	VUS	3 labs	51494a828f
15:101420155 ALDH1A3 A>G	15	101420155	101420155	A	G	ALDH1A3	c.43A>G	NM_000693.3	NP_000684.2:p.(Arg15Gly)	NC_000015.9:g.101420155A>G	(Likely) benign	2 labs	515176b9ce
X:18972407 PHKA2 C>T	X	18972407	18972407	C	T	PHKA2	c.202G>A	NM_000292.3	NP_000283.1:p.(Asp68Asn)	NC_000023.10:g.18972407C>T	VUS	2 labs	515e8f8608
6:7585979 DSP CTCCCGCTCGGGA>C	6	7585979	7585993	CTCCCGCTCGGGA	C	DSP	c.8487_8498del	NM_004415.4	NP_004406.2:p.(Ser2843_Arg2846del)	NC_000006.11:g.7585982_7585993del	(Likely) benign	2 labs	51570afb9f
5:147207583 SPINK1 A>G	5	147207583	147207583	A	G	SPINK1	c.194+2T>C	NM_003122.5	NP_003113.2:p.?	NC_000005.9:g.147207583A>G	(Likely) pathogenic	2 labs	f07bfdc146
14:75018994 LTBP2 G>A	14	75018994	75018994	G	A	LTBP2	c.1295C>T	NM_000428.2	NP_000419.1:p.(Pro432Leu)	NC_000014.8:g.75018994G>A	(Likely) benign	2 labs	516a76d170
X:73961073 NEXMIF C>T	X	73961073	73961073	C	T	NEXMIF	c.3319G>A	NM_001008537.2	NP_001008537.1:p.(Asp1107Asn)	NC_000023.10:g.73961073C>T	(Likely) benign	2 labs	5174fab8d9
10:93394 TUBB8 G>A	10	93394	93394	G	A	TUBB8	c.938C>T	NM_177987.3	NP_817124.1:p.(Ala313Val)	NC_000010.10:g.93394G>A	(Likely) benign	2 labs	5178cfa39b
6:170871054 TBP AGCAGCAGCAGCAGCAGCAGCAGCAGCAG>A	6	170871054	170871082	AGCAGCAGCAGCAGCAGCAGCAGCAGCAG	A	TBP	c.231_258del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer58)	NC_000006.11:g.170871055_170871082del	(Likely) benign	2 labs	517ab3eb0a
11:117866311 IL10RA C>T	11	117866311	117866311	C	T	IL10RA	c.696C>T	NM_001558.3	NP_001549.2:p.(Thr232=)	NC_000011.9:g.117866311C>T	(Likely) benign	2 labs	5189ab6377
1:152283944 FLG G>A	1	152283944	152283944	G	A	FLG	c.3418C>T	NM_002016.1	NP_002007.1:p.(Arg1140Ter)	NC_000001.10:g.152283944G>A	(Likely) pathogenic	2 labs	518f706b2a
9:139397707 NOTCH1 G>A	9	139397707	139397707	G	A	NOTCH1	c.5094C>T	NM_017617.5	NP_060087.3:p.(Asp1698=)	NC_000009.11:g.139397707G>A	(Likely) benign	4 labs	5192192f84
18:2706359 SMCHD1 C>T	18	2706359	2706359	C	T	SMCHD1	c.1957-3C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2706359C>T	(Likely) benign	2 labs	f082e5ec91
16:28915527 ATP2A1 G>A	16	28915527	28915527	G	A	ATP2A1	c.*64G>A	NM_004320.6	NP_004311.1:p.?	NC_000016.9:g.28915527G>A	(Likely) benign	3 labs	f0885680c2
8:77895667 PEX2 A>G	8	77895667	77895667	A	G	PEX2	c.748T>C	NM_001172086.1	NP_001165557.1:p.(Trp250Arg)	NC_000008.10:g.77895667A>G	(Likely) benign	2 labs	519a32881d
17:78064000 CCDC40 AGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG>A	17	78064000	78064078	AGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCG	A	CCDC40	c.2832+332_2832+395del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064015_78064078del	(Likely) benign	2 labs	519e498d2c
7:103338368 RELN C>T	7	103338368	103338368	C	T	RELN	c.1075G>A	NM_005045.3	NP_005036.2:p.(Val359Ile)	NC_000007.13:g.103338368C>T	(Likely) benign	2 labs	51ac334386
11:76890090 MYO7A G>T	11	76890090	76890090	G	T	MYO7A	c.2283-1G>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76890090G>T	(Likely) pathogenic	3 labs	51ad79ef5e
2:179437077 TTN G>A	2	179437077	179437077	G	A	TTN	c.73782C>T	NM_001267550.2	NP_001254479.2:p.(Leu24594=)	NC_000002.11:g.179437077G>A	(Likely) benign	2 labs	f089d30652
17:7125522 ACADVL C>T	17	7125522	7125522	C	T	ACADVL	c.551C>T	NM_001270448.2	NP_001257377.1:p.(Thr184Met)	NC_000017.10:g.7125522C>T	(Likely) pathogenic	2 labs	f08b45dd48
7:2974203 CARD11 T>C	7	2974203	2974203	T	C	CARD11	c.1402A>G	NM_001324281.1	NP_001311210.1:p.(Arg468Gly)	NC_000007.13:g.2974203T>C	VUS	2 labs	51b94014ba
10:69934077 MYPN C>A	10	69934077	69934077	C	A	MYPN	c.2228C>A	NM_032578.4	NP_115967.2:p.(Pro743Gln)	NC_000010.10:g.69934077C>A	VUS	2 labs	51b2e2a77a
16:81942134 PLCG2 G>A	16	81942134	81942134	G	A	PLCG2	c.1671G>A	NM_002661.5	NP_002652.2:p.(Lys557=)	NC_000016.9:g.81942134G>A	(Likely) benign	3 labs	51b4af8da8
5:149602613 CAMK2A G>A	5	149602613	149602613	G	A	CAMK2A	c.1405C>T	NM_015981.4	NP_057065.2:p.(Arg469Trp)	NC_000005.9:g.149602613G>A	VUS	2 labs	f09940f976
X:605183 SHOX C>T	X	605183	605183	C	T	SHOX	c.691C>T	NM_000451.3	NP_000442.1:p.(His231Tyr)	NC_000023.10:g.605183C>T	(Likely) benign	2 labs	51bff82a5f
1:236900508 ACTN2 G>A	1	236900508	236900508	G	A	ACTN2	c.246G>A	NM_001278344.2	NP_001265273.1:p.(Ala82=)	NC_000001.10:g.236900508G>A	(Likely) benign	2 labs	51c2064f2c
20:50407465 SALL4 G>A	20	50407465	50407465	G	A	SALL4	c.1557C>T	NM_020436.3	NP_065169.1:p.(Pro519=)	NC_000020.10:g.50407465G>A	(Likely) benign	2 labs	51c8e06bf8
20:34025321 GDF5 C>T	20	34025321	34025321	C	T	GDF5	c.388G>A	NM_001319138.1	NP_001306067.1:p.(Gly130Arg)	NC_000020.10:g.34025321C>T	(Likely) benign	2 labs	51cabd6092
4:114278820 ANK2 G>A	4	114278820	114278820	G	A	ANK2	c.9046G>A	NM_001148.6	NP_001139.3:p.(Glu3016Lys)	NC_000004.11:g.114278820G>A	(Likely) benign	3 labs	51c3944732
11:61136079 TMEM138 G>A	11	61136079	61136079	G	A	TMEM138	c.387G>A	NM_016464.4	NP_057548.1:p.(Leu129=)	NC_000011.9:g.61136079G>A	(Likely) benign	2 labs	51cda1bae7
19:45867588 ERCC2 G>C	19	45867588	45867588	G	C	ERCC2	c.720C>G	NM_000400.4	NP_000391.1:p.(Asp240Glu)	NC_000019.9:g.45867588G>C	VUS	2 labs	51d2fb4217
22:29121077 CHEK2 T>C	22	29121077	29121077	T	C	CHEK2	c.480A>G	NM_007194.4	NP_009125.1:p.(Ile160Met)	NC_000022.10:g.29121077T>C	VUS	4 labs	51dd3c9b30
7:128497400 FLNC A>G	7	128497400	128497400	A	G	FLNC	c.7780+10A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128497400A>G	(Likely) benign	3 labs	51dbca3d9c
16:2168413 PKD1 C>T	16	2168413	2168413	C	T	PKD1	c.580G>A	NM_001009944.2	NP_001009944.2:p.(Ala194Thr)	NC_000016.9:g.2168413C>T	(Likely) benign	3 labs	51e9776a65
22:36681918 MYH9 C>T	22	36681918	36681918	C	T	MYH9	c.5143G>A	NM_002473.5	NP_002464.1:p.(Gly1715Ser)	NC_000022.10:g.36681918C>T	(Likely) benign	2 labs	51ecb2a109
5:37107791 CPLANE1 G>A	5	37107791	37107791	G	A	CPLANE1	c.9507C>T	NM_023073.3	NP_075561.3:p.(Leu3169=)	NC_000005.9:g.37107791G>A	(Likely) benign	2 labs	51ef0e7327
X:47062350 UBA1 C>T	X	47062350	47062350	C	T	UBA1	c.1242C>T	NM_003334.4	NP_003325.2:p.(Ser414=)	NC_000023.10:g.47062350C>T	(Likely) benign	2 labs	51f96703f8
12:49427495 KMT2D G>C	12	49427495	49427495	G	C	KMT2D	c.10993C>G	NM_003482.4	NP_003473.3:p.(Pro3665Ala)	NC_000012.11:g.49427495G>C	(Likely) benign	2 labs	520f0ca7cf
2:48025856 MSH6 TA>T	2	48025856	48025863	TA	T	MSH6	c.741del	NM_000179.3	NP_000170.1:p.(Lys247AsnfsTer32)	NC_000002.11:g.48025863del	(Likely) pathogenic	2 labs	521106f6ad
2:170030533 LRP2 G>A	2	170030533	170030533	G	A	LRP2	c.10910C>T	NM_004525.3	NP_004516.2:p.(Pro3637Leu)	NC_000002.11:g.170030533G>A	VUS	2 labs	f0af1decd2
13:32953879 BRCA2 CCAAA>C	13	32953879	32953885	CCAAA	C	BRCA2	c.8954-5_8954-2del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953882_32953885del	(Likely) benign	2 labs	f0afb6b815
1:171605478 MYOC G>A	1	171605478	171605478	G	A	MYOC	c.1102C>T	NM_000261.1	NP_000252.1:p.(Gln368Ter)	NC_000001.10:g.171605478G>A	(Likely) pathogenic	2 labs	522601de05
16:53683031 RPGRIP1L C>G	16	53683031	53683031	C	G	RPGRIP1L	c.2153-4G>C	NM_001330538.2	NP_001317467.1:p.?	NC_000016.9:g.53683031C>G	(Likely) benign	4 labs	5224d6723f
X:54334459 WNK3 C>T	X	54334459	54334459	C	T	WNK3	c.985G>A	NM_020922.5	NP_065973.2:p.(Val329Ile)	NC_000023.10:g.54334459C>T	VUS	3 labs	522e2c9637
11:48145375 PTPRJ A>C	11	48145375	48145375	A	C	PTPRJ	c.827A>C	NM_002843.4	NP_002834.3:p.(Gln276Pro)	NC_000011.9:g.48145375A>C	(Likely) benign	2 labs	f0b1130719
3:58134020 FLNB C>T	3	58134020	58134020	C	T	FLNB	c.5909C>T	NM_001164317.1	NP_001157789.1:p.(Thr1970Met)	NC_000003.11:g.58134020C>T	VUS	2 labs	522fd4b0cb
8:94798541 TMEM67 G>C	8	94798541	94798541	G	C	TMEM67	c.1379G>C	NM_153704.5	NP_714915.3:p.(Arg460Thr)	NC_000008.10:g.94798541G>C	(Likely) benign	2 labs	52339fc6c8
X:73751270 SLC16A2 A>G	X	73751270	73751270	A	G	SLC16A2	c.1502A>G	NM_006517.5	NP_006508.2:p.(His501Arg)	NC_000023.10:g.73751270A>G	(Likely) benign	2 labs	f0b3fe0313
16:14576672 PARN C>T	16	14576672	14576672	C	T	PARN	c.1493G>A	NM_002582.4	NP_002573.1:p.(Ser498Asn)	NC_000016.9:g.14576672C>T	VUS	3 labs	524080d8be
14:23894143 MYH7 C>T	14	23894143	23894143	C	T	MYH7	c.2514G>A	NM_000257.4	NP_000248.2:p.(Pro838=)	NC_000014.8:g.23894143C>T	(Likely) benign	2 labs	f0b8e2d4c4
9:37426524 GRHPR C>T	9	37426524	37426524	C	T	GRHPR	c.288-11C>T	NM_012203.2	NP_036335.1:p.?	NC_000009.11:g.37426524C>T	(Likely) benign	2 labs	f0bab13d92
7:107556054 DLD G>A	7	107556054	107556054	G	A	DLD	c.788G>A	NM_000108.4	NP_000099.2:p.(Arg263His)	NC_000007.13:g.107556054G>A	VUS	2 labs	52496247ca
3:119099744 ARHGAP31 T>G	3	119099744	119099744	T	G	ARHGAP31	c.349-7T>G	NM_020754.3	NP_065805.2:p.?	NC_000003.11:g.119099744T>G	(Likely) benign	3 labs	5249c80d8a
3:25666268 TOP2B A>T	3	25666268	25666268	A	T	TOP2B	c.2236T>A	NM_001068.3	NP_001059.2:p.(Leu746Ile)	NC_000003.11:g.25666268A>T	(Likely) benign	2 labs	524a5f452d
1:92946037 GFI1 G>A	1	92946037	92946037	G	A	GFI1	c.792C>T	NM_005263.3	NP_005254.2:p.(Phe264=)	NC_000001.10:g.92946037G>A	(Likely) benign	2 labs	524f408db5
20:49551780 DPM1 T>TA	20	49551780	49551792	T	TA	DPM1	c.784-8dup	NM_001317034.1	NP_001303963.1:p.?	NC_000020.10:g.49551792dup	(Likely) benign	3 labs	524f8920e1
2:179408225 TTN A>G	2	179408225	179408225	A	G	TTN	c.96475T>C	NM_001267550.2	NP_001254479.2:p.(Cys32159Arg)	NC_000002.11:g.179408225A>G	VUS	2 labs	f0bd492c75
12:13716365 GRIN2B T>A	12	13716365	13716365	T	A	GRIN2B	c.3807A>T	NM_000834.4	NP_000825.2:p.(Pro1269=)	NC_000012.11:g.13716365T>A	(Likely) benign	2 labs	5253a40650
2:179474438 TTN G>A	2	179474438	179474438	G	A	TTN	c.51712C>T	NM_001267550.1	NP_001254479.1:p.(Pro17238Ser)	NC_000002.11:g.179474438G>A	VUS	2 labs	52567fd70a
11:121038773 TECTA C>T	11	121038773	121038773	C	T	TECTA	c.5597C>T	NM_005422.2	NP_005413.2:p.(Thr1866Met)	NC_000011.9:g.121038773C>T	(Likely) pathogenic	2 labs	525c73599c
6:129621987 LAMA2 C>T	6	129621987	129621987	C	T	LAMA2	c.3144C>T	NM_000426.3	NP_000417.2:p.(Thr1048=)	NC_000006.11:g.129621987C>T	(Likely) benign	2 labs	52605a25f3
22:19865928 TXNRD2 G>A	22	19865928	19865928	G	A	TXNRD2	c.1308C>T	NM_006440.5	NP_006431.2:p.(Phe436=)	NC_000022.10:g.19865928G>A	(Likely) benign	2 labs	52614fdb7a
8:145584541 SLC52A2 C>T	8	145584541	145584541	C	T	SLC52A2	c.1204C>T	NM_024531.4	NP_078807.1:p.(Arg402Trp)	NC_000008.10:g.145584541C>T	VUS	2 labs	5263dbb19a
17:29684085 NF1 C>T	17	29684085	29684085	C	T	NF1	c.7783C>T	NM_000267.3	NP_000258.1:p.(Gln2595Ter)	NC_000017.10:g.29684085C>T	(Likely) pathogenic	2 labs	5265624e37
2:179523215 TTN G>A	2	179523215	179523215	G	A	TTN	c.37607C>T	NM_001267550.2	NP_001254479.2:p.(Pro12536Leu)	NC_000002.11:g.179523215G>A	(Likely) benign	2 labs	526bd2579b
6:42689755 PRPH2 A>G	6	42689755	42689755	A	G	PRPH2	c.318T>C	NM_000322.5	NP_000313.2:p.(Val106=)	NC_000006.11:g.42689755A>G	(Likely) benign	3 labs	526d43d186
5:14368906 TRIO C>T	5	14368906	14368906	C	T	TRIO	c.2964C>T	NM_007118.3	NP_009049.2:p.(Cys988=)	NC_000005.9:g.14368906C>T	(Likely) benign	2 labs	526d85c75f
8:144991347 PLEC G>A	8	144991347	144991347	G	A	PLEC	c.13053C>T	NM_201380.4	NP_958782.1:p.(Ile4351=)	NC_000008.10:g.144991347G>A	(Likely) benign	4 labs	526f887753
X:43809208 NDP G>A	X	43809208	43809208	G	A	NDP	c.239C>T	NM_000266.4	NP_000257.1:p.(Ser80Leu)	NC_000023.10:g.43809208G>A	VUS	3 labs	527182373f
14:64560092 SYNE2 G>A	14	64560092	64560092	G	A	SYNE2	c.12002G>A	NM_182914.3	NP_878918.2:p.(Trp4001Ter)	NC_000014.8:g.64560092G>A	(Likely) benign	2 labs	f0c5532073
3:167506937 SERPINI1 C>G	3	167506937	167506937	C	G	SERPINI1	c.21C>G	NM_005025.5	NP_005016.1:p.(Phe7Leu)	NC_000003.11:g.167506937C>G	(Likely) benign	2 labs	527f310f1c
11:117232705 CEP164 T>A	11	117232705	117232705	T	A	CEP164	c.548T>A	NM_014956.4	NP_055771.4:p.(Met183Lys)	NC_000011.9:g.117232705T>A	(Likely) benign	2 labs	528ae1ac7b
16:15876278 MYH11 G>A	16	15876278	15876278	G	A	MYH11	c.711C>T	NM_001040113.2	NP_001035202.1:p.(Asn237=)	NC_000016.9:g.15876278G>A	(Likely) benign	2 labs	528fc0dea8
16:3712964 TRAP1 G>A	16	3712964	3712964	G	A	TRAP1	c.1713C>T	NM_016292.2	NP_057376.2:p.(Ala571=)	NC_000016.9:g.3712964G>A	(Likely) benign	2 labs	5293630a2a
3:50231026 GNAT1 T>C	3	50231026	50231026	T	C	GNAT1	c.379T>C	NM_144499.2	NP_653082.1:p.(Trp127Arg)	NC_000003.11:g.50231026T>C	VUS	2 labs	5297853b25
2:128176040 PROC A>T	2	128176040	128176040	A	T	PROC	c.-50A>T	NM_000312.4	NP_000303.1:p.?	NC_000002.11:g.128176040A>T	(Likely) benign	2 labs	f0d365debb
2:8928817 KIDINS220 G>A	2	8928817	8928817	G	A	KIDINS220	c.1747C>T	NM_020738.4	NP_065789.1:p.(Pro583Ser)	NC_000002.11:g.8928817G>A	VUS	2 labs	f0d519335f
18:29104714 DSG2 A>G	18	29104714	29104714	A	G	DSG2	c.877A>G	NM_001943.5	NP_001934.2:p.(Ile293Val)	NC_000018.9:g.29104714A>G	(Likely) benign	5 labs	52ab0ce47e
6:33152819 COL11A2 C>T	6	33152819	33152819	C	T	COL11A2	c.889G>A	NM_080680.2	NP_542411.2:p.(Gly297Ser)	NC_000006.11:g.33152819C>T	VUS	3 labs	52af6657fa
12:57975211 KIF5A G>A	12	57975211	57975211	G	A	KIF5A	c.2769G>A	NM_004984.4	NP_004975.2:p.(Arg923=)	NC_000012.11:g.57975211G>A	(Likely) benign	3 labs	52a9a2e672
22:46751367 TRMU G>T	22	46751367	46751367	G	T	TRMU	c.900G>T	NM_018006.4	NP_060476.2:p.(Leu300=)	NC_000022.10:g.46751367G>T	(Likely) benign	2 labs	52b13bf779
11:63978254 FERMT3 G>A	11	63978254	63978254	G	A	FERMT3	c.332G>A	NM_178443.3	NP_848537.1:p.(Arg111His)	NC_000011.9:g.63978254G>A	VUS	4 labs	52b6ff426e
X:131216404 FRMD7 T>C	X	131216404	131216404	T	C	FRMD7	c.892A>G	NM_194277.2	NP_919253.1:p.(Ser298Gly)	NC_000023.10:g.131216404T>C	VUS	2 labs	52b6fc3901
2:179422418 TTN A>G	2	179422418	179422418	A	G	TTN	c.87663T>C	NM_001267550.2	NP_001254479.2:p.(Ser29221=)	NC_000002.11:g.179422418A>G	(Likely) benign	2 labs	52b5a89864
19:50831689 KCNC3 T>TGCGGCGTTG	19	50831689	50831713	T	TGCGGCGTTG	KCNC3	c.642_650dup	NM_004977.3	NP_004968.2:p.(Asn215_Ala217dup)	NC_000019.9:g.50831705_50831713dup	VUS	2 labs	52b9bd918b
12:52200232 SCN8A C>T	12	52200232	52200232	C	T	SCN8A	c.4962C>T	NM_001330260.1	NP_001317189.1:p.(Ile1654=)	NC_000012.11:g.52200232C>T	(Likely) benign	2 labs	52c108e9f2
16:30997778 HSD3B7 C>T	16	30997778	30997778	C	T	HSD3B7	c.357C>T	NM_001142777.1	NP_001136249.1:p.(Thr119=)	NC_000016.9:g.30997778C>T	(Likely) benign	2 labs	52c1db64ab
14:91739029 CCDC88C C>T	14	91739029	91739029	C	T	CCDC88C	c.6027G>A	NM_001080414.3	NP_001073883.2:p.(Pro2009=)	NC_000014.8:g.91739029C>T	(Likely) benign	2 labs	52c1e166c8
1:218609453 TGFB2 G>A	1	218609453	218609453	G	A	TGFB2	c.980G>A	NM_001135599.4	NP_001129071.1:p.(Arg327Gln)	NC_000001.10:g.218609453G>A	(Likely) pathogenic	3 labs	52bf972dbc
14:23899800 MYH7 A>G	14	23899800	23899800	A	G	MYH7	c.968T>C	NM_000257.4	NP_000248.2:p.(Ile323Thr)	NC_000014.8:g.23899800A>G	VUS	3 labs	52c635886c
1:22987549 C1QB C>T	1	22987549	22987549	C	T	C1QB	c.432C>T	NM_000491.3	NP_000482.3:p.(His144=)	NC_000001.10:g.22987549C>T	(Likely) benign	2 labs	52d8e36c0a
11:128782002 KCNJ5 T>C	11	128782002	128782002	T	C	KCNJ5	c.834T>C	NM_000890.5	NP_000881.3:p.(His278=)	NC_000011.9:g.128782002T>C	(Likely) benign	4 labs	f0e3e0f1e7
2:48025764 MSH6 C>T	2	48025764	48025764	C	T	MSH6	c.642C>T	NM_000179.3	NP_000170.1:p.(Tyr214=)	NC_000002.11:g.48025764C>T	(Likely) benign	5 labs	52e7df7a5b
X:152954116 SLC6A8 G>A	X	152954116	152954116	G	A	SLC6A8	c.87G>A	NM_005629.3	NP_005620.1:p.(Gly29=)	NC_000023.10:g.152954116G>A	(Likely) benign	2 labs	52e8226635
5:68805329 OCLN A>C	5	68805329	68805329	A	C	OCLN	c.412A>C	NM_002538.3	NP_002529.1:p.(Lys138Gln)	NC_000005.9:g.68805329A>C	VUS	2 labs	52e83564af
4:10083044 WDR1 G>A	4	10083044	10083044	G	A	WDR1	c.1221C>T	NM_017491.4	NP_059830.1:p.(Asp407=)	NC_000004.11:g.10083044G>A	(Likely) benign	2 labs	52ee4785d1
6:65301408 EYS A>G	6	65301408	65301408	A	G	EYS	c.4352T>C	NM_001142800.1	NP_001136272.1:p.(Ile1451Thr)	NC_000006.11:g.65301408A>G	(Likely) benign	2 labs	52efd5e983
1:11850947 MTHFR G>A	1	11850947	11850947	G	A	MTHFR	c.1761C>T	NM_005957.4	NP_005948.3:p.(Ala587=)	NC_000001.10:g.11850947G>A	(Likely) benign	2 labs	52f08092e1
19:48664732 LIG1 G>A	19	48664732	48664732	G	A	LIG1	c.140C>T	NM_000234.1	NP_000225.1:p.(Ser47Phe)	NC_000019.9:g.48664732G>A	(Likely) benign	2 labs	52f4271891
11:6646584 DCHS1 C>T	11	6646584	6646584	C	T	DCHS1	c.6991G>A	NM_003737.4	NP_003728.1:p.(Val2331Ile)	NC_000011.9:g.6646584C>T	(Likely) benign	3 labs	55135a3a1d
1:210334081 SYT14 T>C	1	210334081	210334081	T	C	SYT14	c.1248T>C	NM_001256006.2	NP_001242935.1:p.(Tyr416=)	NC_000001.10:g.210334081T>C	(Likely) benign	2 labs	530cd29d17
2:170070223 LRP2 A>G	2	170070223	170070223	A	G	LRP2	c.5984T>C	NM_004525.3	NP_004516.2:p.(Ile1995Thr)	NC_000002.11:g.170070223A>G	VUS	2 labs	53088090bf
19:47259727 FKRP C>T	19	47259727	47259727	C	T	FKRP	c.1020C>T	NM_001039885.3	NP_001034974.1:p.(Tyr340=)	NC_000019.9:g.47259727C>T	(Likely) benign	2 labs	530667a765
2:241724401 KIF1A C>G	2	241724401	241724401	C	G	KIF1A	c.720+5G>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241724401C>G	(Likely) benign	2 labs	530948e3ba
19:33882255 PEPD G>A	19	33882255	33882255	G	A	PEPD	c.1098C>T	NM_000285.3	NP_000276.2:p.(His366=)	NC_000019.9:g.33882255G>A	(Likely) benign	2 labs	531084a1f9
8:94817064 TMEM67 T>C	8	94817064	94817064	T	C	TMEM67	c.2397T>C	NM_153704.6	NP_714915.3:p.(Asp799=)	NC_000008.10:g.94817064T>C	(Likely) benign	3 labs	53127b752d
11:68671477 IGHMBP2 T>C	11	68671477	68671477	T	C	IGHMBP2	c.57T>C	NM_002180.3	NP_002171.2:p.(Leu19=)	NC_000011.9:g.68671477T>C	(Likely) benign	3 labs	f0edb0571e
X:57162480 SPIN2A C>T	X	57162480	57162480	C	T	SPIN2A	c.551G>A	NM_019003.3	NP_061876.3:p.(Gly184Asp)	NC_000023.10:g.57162480C>T	VUS	2 labs	5320f2235d
3:150661734 CLRN1 G>A	3	150661734	150661734	G	A	CLRN1	c.298C>T	NM_001256819.1	NP_001243748.1:p.(His100Tyr)	NC_000003.11:g.150661734G>A	(Likely) benign	2 labs	53249f9e6b
17:72308319 DNAI2 G>A	17	72308319	72308319	G	A	DNAI2	c.1672G>A	NM_023036.6	NP_075462.3:p.(Ala558Thr)	NC_000017.10:g.72308319G>A	(Likely) benign	2 labs	533699668b
22:38121084 TRIOBP C>T	22	38121084	38121084	C	T	TRIOBP	c.2521C>T	NM_001039141.2	NP_001034230.1:p.(Arg841Ter)	NC_000022.10:g.38121084C>T	(Likely) pathogenic	2 labs	5330e93136
5:138283104 SIL1 T>G	5	138283104	138283104	T	G	SIL1	c.1088A>C	NM_001037633.1	NP_001032722.1:p.(Gln363Pro)	NC_000005.9:g.138283104T>G	VUS	2 labs	5331efbcfd
X:111195610 TRPC5 C>T	X	111195610	111195610	C	T	TRPC5	c.39G>A	NM_012471.3	NP_036603.1:p.(Pro13=)	NC_000023.10:g.111195610C>T	(Likely) benign	2 labs	5332752de6
10:88441526 LDB3 C>T	10	88441526	88441526	C	T	LDB3	c.655C>T	NM_001171610.1	NP_001165081.1:p.(Arg219Ter)	NC_000010.10:g.88441526C>T	VUS	2 labs	5339a6054b
14:74969621 LTBP2 C>G	14	74969621	74969621	C	G	LTBP2	c.4905G>C	NM_000428.3	NP_000419.1:p.(Leu1635=)	NC_000014.8:g.74969621C>G	(Likely) benign	2 labs	53439a7273
15:85326075 ZNF592 T>G	15	85326075	85326075	T	G	ZNF592	c.169T>G	NM_014630.2	NP_055445.2:p.(Ser57Ala)	NC_000015.9:g.85326075T>G	(Likely) benign	2 labs	5346d88260
21:47811183 PCNT C>T	21	47811183	47811183	C	T	PCNT	c.4108C>T	NM_006031.5	NP_006022.3:p.(Arg1370Trp)	NC_000021.8:g.47811183C>T	(Likely) benign	2 labs	53529f5185
17:27061084 NEK8 A>T	17	27061084	27061084	A	T	NEK8	c.131A>T	NM_178170.3	NP_835464.1:p.(Glu44Val)	NC_000017.10:g.27061084A>T	VUS	2 labs	536a3d1c7e
2:32362002 SPAST C>T	2	32362002	32362002	C	T	SPAST	c.1378C>T	NM_014946.4	NP_055761.2:p.(Arg460Cys)	NC_000002.11:g.32362002C>T	(Likely) pathogenic	3 labs	f0fcb15277
17:41209107 BRCA1 G>A	17	41209107	41209107	G	A	BRCA1	c.5239C>T	NM_007294.4	NP_009225.1:p.(Gln1747Ter)	NC_000017.10:g.41209107G>A	(Likely) pathogenic	3 labs	5380eaadda
1:151783805 RORC G>C	1	151783805	151783805	G	C	RORC	c.1391C>G	NM_005060.4	NP_005051.2:p.(Ala464Gly)	NC_000001.10:g.151783805G>C	(Likely) benign	2 labs	5383131934
17:63554094 AXIN2 G>A	17	63554094	63554094	G	A	AXIN2	c.645C>T	NM_004655.4	NP_004646.3:p.(Leu215=)	NC_000017.10:g.63554094G>A	(Likely) benign	3 labs	f0fdb636c6
14:102912269 TECPR2 C>T	14	102912269	102912269	C	T	TECPR2	c.3060C>T	NM_014844.5	NP_055659.2:p.(Asp1020=)	NC_000014.8:g.102912269C>T	(Likely) benign	2 labs	538764d41a
17:41245655 BRCA1 T>G	17	41245655	41245655	T	G	BRCA1	c.1893A>C	NM_007294.3	NP_009225.1:p.(Leu631=)	NC_000017.10:g.41245655T>G	(Likely) benign	2 labs	538cfa03b9
20:1961298 PDYN T>G	20	1961298	1961298	T	G	PDYN	c.436A>C	NM_024411.4	NP_077722.1:p.(Met146Leu)	NC_000020.10:g.1961298T>G	(Likely) benign	3 labs	539156e226
17:17127244 FLCN C>A	17	17127244	17127244	C	A	FLCN	c.610G>T	NM_001353230.1	NP_001340159.1:p.(Ala204Ser)	NC_000017.10:g.17127244C>A	(Likely) pathogenic	2 labs	5394d3abba
13:111111235 COL4A2 G>A	13	111111235	111111235	G	A	COL4A2	c.1550G>A	NM_001846.4	NP_001837.2:p.(Arg517Lys)	NC_000013.10:g.111111235G>A	(Likely) benign	3 labs	53a2358601
3:38647499 SCN5A G>A	3	38647499	38647499	G	A	SCN5A	c.1281C>T	NM_001099404.2	NP_001092874.1:p.(Thr427=)	NC_000003.11:g.38647499G>A	(Likely) benign	2 labs	f104becb9e
21:45709676 AIRE C>T	21	45709676	45709676	C	T	AIRE				NC_000021.8:g.45709676C>T	(Likely) benign	2 labs	539d01f4eb
10:90701164 ACTA2 C>T	10	90701164	90701164	C	T	ACTA2	c.455-17G>A	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90701164C>T	(Likely) benign	3 labs	5397e4a787
12:42858975 PRICKLE1 A>G	12	42858975	42858975	A	G	PRICKLE1	c.861T>C	NM_153026.2	NP_694571.2:p.(Ser287=)	NC_000012.11:g.42858975A>G	(Likely) benign	2 labs	53a70feb64
3:111298044 CD96 C>CA	3	111298044	111298048	C	CA	CD96	c.766dup	NM_198196.2	NP_937839.1:p.(Ile256AsnfsTer13)	NC_000003.11:g.111298048dup	VUS	2 labs	53ad3040fb
8:6302418 MCPH1 A>G	8	6302418	6302418	A	G	MCPH1	c.1175A>G	NM_001172574.2	NP_001166045.2:p.(Asp392Gly)	NC_000008.10:g.6302418A>G	(Likely) benign	3 labs	53ae29cee2
11:66460495 SPTBN2 A>G	11	66460495	66460495	A	G	SPTBN2	c.4931T>C	NM_006946.3	NP_008877.1:p.(Ile1644Thr)	NC_000011.9:g.66460495A>G	VUS	2 labs	53b1a062d0
17:79478916 ACTG1 G>T	17	79478916	79478916	G	T	ACTG1	c.363+13C>A	NM_001199954.3	NP_001186883.1:p.?	NC_000017.10:g.79478916G>T	(Likely) benign	3 labs	53b4b461a5
12:10275908 CLEC7A G>A	12	10275908	10275908	G	A	CLEC7A	c.547C>T	NM_197947.2	NP_922938.1:p.(Leu183Phe)	NC_000012.11:g.10275908G>A	(Likely) benign	2 labs	53bae96463
6:71010007 COL9A1 C>T	6	71010007	71010007	C	T	COL9A1	c.166+5G>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71010007C>T	(Likely) benign	2 labs	53b288441a
1:10363885 KIF1B G>A	1	10363885	10363885	G	A	KIF1B	c.2642G>A	NM_183416.4	NP_904325.2:p.(Gly881Asp)	NC_000001.10:g.10363885G>A	(Likely) benign	3 labs	53b95a9935
17:78188134 SGSH G>A	17	78188134	78188134	G	A	SGSH	c.507-7C>T	NM_001352921.1	NP_001339850.1:p.?	NC_000017.10:g.78188134G>A	(Likely) benign	2 labs	53ca7f0033
16:2164789 PKD1 G>C	16	2164789	2164789	G	C	PKD1	c.2235C>G	NM_001009944.2	NP_001009944.2:p.(Ala745=)	NC_000016.9:g.2164789G>C	(Likely) benign	3 labs	53bdd47511
4:103522150 NFKB1 G>A	4	103522150	103522150	G	A	NFKB1	c.1736G>A	NM_003998.4	NP_003989.2:p.(Arg579Lys)	NC_000004.11:g.103522150G>A	(Likely) benign	2 labs	53bfa75e8b
2:121736041 GLI2 A>C	2	121736041	121736041	A	C	GLI2	c.1400A>C	NM_005270.4	NP_005261.2:p.(Lys467Thr)	NC_000002.11:g.121736041A>C	VUS	2 labs	53ce4577ea
17:76989715 CANT1 T>A	17	76989715	76989715	T	A	CANT1	c.1123A>T	NM_138793.3	NP_620148.1:p.(Met375Leu)	NC_000017.10:g.76989715T>A	(Likely) benign	2 labs	53e365f1c2
12:50503242 GPD1 C>T	12	50503242	50503242	C	T	GPD1	c.990C>T	NM_005276.4	NP_005267.2:p.(Tyr330=)	NC_000012.11:g.50503242C>T	(Likely) benign	2 labs	53e47aa7b5
10:73567275 CDH23 G>A	10	73567275	73567275	G	A	CDH23	c.8311G>A	NM_022124.6	NP_071407.4:p.(Gly2771Ser)	NC_000010.10:g.73567275G>A	VUS	4 labs	53f8837055
5:90004703 ADGRV1 C>A	5	90004703	90004703	C	A	ADGRV1	c.8801C>A	NM_032119.4	NP_115495.3:p.(Ser2934Ter)	NC_000005.9:g.90004703C>A	(Likely) pathogenic	2 labs	53eee6d0bb
20:31024028 ASXL1 G>A	20	31024028	31024028	G	A	ASXL1	c.3513G>A	NM_015338.5	NP_056153.2:p.(Arg1171=)	NC_000020.10:g.31024028G>A	(Likely) benign	3 labs	53f0b78ca3
1:94466556 ABCA4 G>C	1	94466556	94466556	G	C	ABCA4	c.6386+2C>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94466556G>C	(Likely) pathogenic	2 labs	53f4ecf164
19:10291529 DNMT1 G>A	19	10291529	10291529	G	A	DNMT1	c.150C>T	NM_001130823.3	NP_001124295.1:p.(His50=)	NC_000019.9:g.10291529G>A	(Likely) benign	3 labs	53f44f26c6
X:40458850 ATP6AP2 C>T	X	40458850	40458850	C	T	ATP6AP2	c.595C>T	NM_005765.2	NP_005756.2:p.(Arg199Cys)	NC_000023.10:g.40458850C>T	VUS	2 labs	53fd5c6507
10:75871735 VCL C>G	10	75871735	75871735	C	G	VCL	c.2814C>G	NM_014000.3	NP_054706.1:p.(Gly938=)	NC_000010.10:g.75871735C>G	(Likely) benign	4 labs	5400ef2877
12:133225927 POLE G>A	12	133225927	133225927	G	A	POLE	c.3970C>T	NM_006231.4	NP_006222.2:p.(Arg1324Cys)	NC_000012.11:g.133225927G>A	VUS	2 labs	f1171a140f
20:62324280 RTEL1 C>T	20	62324280	62324280	C	T	RTEL1	c.2775C>T	NM_001283009.1	NP_001269938.1:p.(Ser925=)	NC_000020.10:g.62324280C>T	(Likely) benign	2 labs	54006da00e
5:94803683 SKIC3 G>A	5	94803683	94803683	G	A	SKIC3	c.4507C>T	NM_014639.3	NP_055454.1:p.(Arg1503Cys)	NC_000005.9:g.94803683G>A	VUS	2 labs	540b2822e6
22:50678653 TUBGCP6 C>A	22	50678653	50678653	C	A	TUBGCP6	c.885G>T	NM_020461.4	NP_065194.3:p.(Arg295Ser)	NC_000022.10:g.50678653C>A	VUS	2 labs	542415d68c
4:5747063 EVC G>A	4	5747063	5747063	G	A	EVC	c.934G>A	NM_153717.2	NP_714928.1:p.(Asp312Asn)	NC_000004.11:g.5747063G>A	(Likely) benign	3 labs	542475c645
9:108363467 FKTN T>C	9	108363467	108363467	T	C	FKTN	c.207T>C	NM_006731.2	NP_006722.2:p.(Asn69=)	NC_000009.11:g.108363467T>C	(Likely) benign	3 labs	542d311f94
14:23886366 MYH7 C>A	14	23886366	23886366	C	A	MYH7	c.4515G>T	NM_000257.2	NP_000248.2:p.(Leu1505=)	NC_000014.8:g.23886366C>A	(Likely) benign	2 labs	542da4edaa
16:30199762 CORO1A T>C	16	30199762	30199762	T	C	CORO1A	c.1146T>C	NM_007074.3	NP_009005.1:p.(Gly382=)	NC_000016.9:g.30199762T>C	(Likely) benign	2 labs	5431fd1e08
10:75843100 VCL T>A	10	75843100	75843100	T	A	VCL	c.875-24T>A	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75843100T>A	(Likely) benign	3 labs	543243d321
18:44085877 LOXHD1 G>T	18	44085877	44085877	G	T	LOXHD1	c.5616C>A	NM_144612.6	NP_653213.6:p.(Asn1872Lys)	NC_000018.9:g.44085877G>T	(Likely) benign	3 labs	5435e17225
1:2235376 SKI G>A	1	2235376	2235376	G	A	SKI	c.1309G>A	NM_003036.3	NP_003027.1:p.(Ala437Thr)	NC_000001.10:g.2235376G>A	(Likely) benign	2 labs	543caaa21e
10:85960441 CDHR1 C>T	10	85960441	85960441	C	T	CDHR1	c.523C>T	NM_033100.4	NP_149091.1:p.(Gln175Ter)	NC_000010.10:g.85960441C>T	(Likely) pathogenic	2 labs	543f8a6d5a
4:126241869 FAT4 A>G	4	126241869	126241869	A	G	FAT4	c.4303A>G	NM_024582.4	NP_078858.4:p.(Ile1435Val)	NC_000004.11:g.126241869A>G	(Likely) benign	2 labs	54430bdffb
17:27061915 NEK8 C>T	17	27061915	27061915	C	T	NEK8	c.379C>T	NM_178170.3	NP_835464.1:p.(Arg127Ter)	NC_000017.10:g.27061915C>T	(Likely) pathogenic	2 labs	544e65262f
2:170077059 LRP2 G>A	2	170077059	170077059	G	A	LRP2	c.5553C>T	NM_004525.3	NP_004516.2:p.(His1851=)	NC_000002.11:g.170077059G>A	(Likely) benign	2 labs	544f7fb154
11:57367583 SERPING1 A>C	11	57367583	57367583	A	C	SERPING1	c.283A>C	NM_000062.2	NP_000053.2:p.(Thr95Pro)	NC_000011.9:g.57367583A>C	(Likely) benign	2 labs	54558b9fe6
14:64886562 MTHFD1 A>G	14	64886562	64886562	A	G	MTHFD1	c.646A>G	NM_005956.4	NP_005947.3:p.(Thr216Ala)	NC_000014.8:g.64886562A>G	(Likely) benign	2 labs	5455aeff0d
X:135453648 ADGRG4 G>A	X	135453648	135453648	G	A	ADGRG4	c.7558G>A	NM_153834.3	NP_722576.3:p.(Val2520Ile)	NC_000023.10:g.135453648G>A	(Likely) benign	2 labs	545fe40aa7
9:98209410 PTCH1 G>A	9	98209410	98209410	G	A	PTCH1	c.3930C>T	NM_001083602.3	NP_001077071.1:p.(Ser1310=)	NC_000009.11:g.98209410G>A	(Likely) benign	3 labs	546380428d
4:1801064 FGFR3 G>A	4	1801064	1801064	G	A	FGFR3	c.193G>A	NM_000142.4	NP_000133.1:p.(Gly65Arg)	NC_000004.11:g.1801064G>A	(Likely) benign	2 labs	546bf5cfe4
11:124757029 ROBO4 G>A	11	124757029	124757029	G	A	ROBO4	c.2279C>T	NM_019055.5	NP_061928.4:p.(Pro760Leu)	NC_000011.9:g.124757029G>A	(Likely) benign	2 labs	5471715328
10:112404326 RBM20 G>T	10	112404326	112404326	G	T	RBM20	c.114G>T	NM_001134363.1	NP_001127835.1:p.(Pro38=)	NC_000010.10:g.112404326G>T	(Likely) benign	2 labs	54748b43d8
6:53159155 ELOVL5 C>T	6	53159155	53159155	C	T	ELOVL5	c.193G>A	NM_001242831.2	NP_001229760.1:p.(Val65Ile)	NC_000006.11:g.53159155C>T	(Likely) benign	3 labs	546eedc1a2
19:10260252 DNMT1 G>A	19	10260252	10260252	G	A	DNMT1	c.2463C>T	NM_001130823.3	NP_001124295.1:p.(Leu821=)	NC_000019.9:g.10260252G>A	(Likely) benign	3 labs	5479e04a54
11:19206622 CSRP3 A>G	11	19206622	19206622	A	G	CSRP3				NC_000011.9:g.19206622A>G	(Likely) benign	2 labs	5485c5bf6f
2:179589100 TTN T>C	2	179589100	179589100	T	C	TTN	c.21002A>G	NM_001267550.2	NP_001254479.2:p.(Lys7001Arg)	NC_000002.11:g.179589100T>C	VUS	2 labs	5488956999
17:29559170 NF1 G>A	17	29559170	29559170	G	A	NF1	c.3277G>A	NM_000267.3	NP_000258.1:p.(Val1093Met)	NC_000017.10:g.29559170G>A	(Likely) pathogenic	2 labs	548b88132a
12:58131545 AGAP2 C>T	12	58131545	58131545	C	T	AGAP2	c.485G>A	NM_001122772.2	NP_001116244.1:p.(Gly162Asp)	NC_000012.11:g.58131545C>T	VUS	2 labs	548c85539b
15:90174746 KIF7 C>T	15	90174746	90174746	C	T	KIF7	c.3091G>A	NM_198525.2	NP_940927.2:p.(Gly1031Arg)	NC_000015.9:g.90174746C>T	VUS	2 labs	549407d05b
4:107114937 TBCK G>A	4	107114937	107114937	G	A	TBCK	c.1382-10C>T	NM_001290768.1	NP_001277697.1:p.?	NC_000004.11:g.107114937G>A	(Likely) benign	2 labs	54969dc58d
X:53612146 HUWE1 G>A	X	53612146	53612146	G	A	HUWE1	c.4827C>T	NM_031407.6	NP_113584.3:p.(Tyr1609=)	NC_000023.10:g.53612146G>A	(Likely) benign	2 labs	54998a76f9
15:100636586 ADAMTS17 G>A	15	100636586	100636586	G	A	ADAMTS17	c.2112C>T	NM_139057.4	NP_620688.2:p.(Gly704=)	NC_000015.9:g.100636586G>A	(Likely) benign	2 labs	f132f9ba1d
10:88441540 LDB3 G>A	10	88441540	88441540	G	A	LDB3	c.669G>A	NM_007078.2	NP_009009.1:p.(Ser223=)	NC_000010.10:g.88441540G>A	(Likely) benign	2 labs	54ab205ae1
17:29654535 NF1 C>T	17	29654535	29654535	C	T	NF1	c.5224C>T	NM_000267.3	NP_000258.1:p.(Gln1742Ter)	NC_000017.10:g.29654535C>T	(Likely) pathogenic	2 labs	54af4ee0a9
13:32914893 BRCA2 ATAACT>A	13	32914893	32914901	ATAACT	A	BRCA2	c.6405_6409del	NM_000059.4	NP_000050.3:p.(Asn2135LysfsTer3)	NC_000013.10:g.32914897_32914901del	(Likely) pathogenic	4 labs	f138b6bf31
6:135748409 AHI1 T>C	6	135748409	135748409	T	C	AHI1	c.2660A>G	NM_001134831.1	NP_001128303.1:p.(Lys887Arg)	NC_000006.11:g.135748409T>C	VUS	3 labs	54bbae6a46
3:38739793 SCN10A C>T	3	38739793	38739793	C	T	SCN10A	c.4918G>A	NM_006514.4	NP_006505.4:p.(Asp1640Asn)	NC_000003.11:g.38739793C>T	VUS	2 labs	f14157412b
3:53217168 PRKCD C>T	3	53217168	53217168	C	T	PRKCD	c.603C>T	NM_001354680.1	NP_001341609.1:p.(Ile201=)	NC_000003.11:g.53217168C>T	(Likely) benign	2 labs	54e5385f6f
22:21343995 LZTR1 C>T	22	21343995	21343995	C	T	LZTR1	c.651+24C>T	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21343995C>T	(Likely) benign	2 labs	54e8df5781
12:40758652 LRRK2 T>C	12	40758652	40758652	T	C	LRRK2	c.7190T>C	NM_198578.4	NP_940980.4:p.(Met2397Thr)	NC_000012.11:g.40758652T>C	(Likely) benign	4 labs	f1476c90de
10:123276893 FGFR2 A>G	10	123276893	123276893	A	G	FGFR2	c.1024T>C	NM_000141.4	NP_000132.3:p.(Cys342Arg)	NC_000010.10:g.123276893A>G	(Likely) pathogenic	2 labs	54f2d1f891
9:139404246 NOTCH1 T>C	9	139404246	139404246	T	C	NOTCH1	c.2908A>G	NM_017617.5	NP_060087.3:p.(Thr970Ala)	NC_000009.11:g.139404246T>C	VUS	3 labs	54f7fa420b
22:17579681 IL17RA C>T	22	17579681	17579681	C	T	IL17RA	c.327C>T	NM_014339.6	NP_055154.3:p.(Leu109=)	NC_000022.10:g.17579681C>T	(Likely) benign	2 labs	54fe67ac5f
1:215808022 USH2A T>C	1	215808022	215808022	T	C	USH2A	c.15076A>G	NM_206933.2	NP_996816.2:p.(Lys5026Glu)	NC_000001.10:g.215808022T>C	(Likely) benign	2 labs	54ff55e1c6
8:42698158 THAP1 G>T	8	42698158	42698158	G	T	THAP1	c.71+9C>A	NM_018105.3	NP_060575.1:p.?	NC_000008.10:g.42698158G>T	(Likely) benign	3 labs	5508b2f5ce
14:24724663 TGM1 C>T	14	24724663	24724663	C	T	TGM1	c.1552G>A	NM_000359.3	NP_000350.1:p.(Val518Met)	NC_000014.8:g.24724663C>T	(Likely) benign	3 labs	f151d19301
1:197390751 CRB1 C>T	1	197390751	197390751	C	T	CRB1	c.1586C>T	NM_001257965.1	NP_001244894.1:p.(Pro529Leu)	NC_000001.10:g.197390751C>T	VUS	2 labs	550da1d1a7
5:169482399 DOCK2 C>T	5	169482399	169482399	C	T	DOCK2	c.4295+9C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169482399C>T	(Likely) benign	2 labs	5512623c19
10:50691385 ERCC6 G>A	10	50691385	50691385	G	A	ERCC6	c.1992+7C>T	NM_001346440.1	NP_001333369.1:p.?	NC_000010.10:g.50691385G>A	(Likely) benign	2 labs	5512c64c16
12:53343225 KRT18 C>T	12	53343225	53343225	C	T	KRT18	c.268C>T	NM_000224.3	NP_000215.1:p.(Arg90Cys)	NC_000012.11:g.53343225C>T	(Likely) benign	2 labs	f153993b3e
14:100705738 YY1 GACGGCGGCGGTGGCGACC>G	14	100705738	100705766	GACGGCGGCGGTGGCGACC	G	YY1	c.168_185del	NM_003403.5	NP_003394.1:p.(Asp58_Gly63del)	NC_000014.8:g.100705749_100705766del	VUS	2 labs	f15496fd07
1:12004675 PLOD1 C>T	1	12004675	12004675	C	T	PLOD1	c.173C>T	NM_001316320.1	NP_001303249.1:p.(Ser58Phe)	NC_000001.10:g.12004675C>T	(Likely) benign	2 labs	55283a02b9
4:1807891 FGFR3 G>C	4	1807891	1807891	G	C	FGFR3	c.1950G>C	NM_000142.4	NP_000133.1:p.(Lys650Asn)	NC_000004.11:g.1807891G>C	(Likely) pathogenic	2 labs	5529272934
X:53226026 KDM5C T>C	X	53226026	53226026	T	C	KDM5C	c.2823A>G	NM_004187.3	NP_004178.2:p.(Ser941=)	NC_000023.10:g.53226026T>C	(Likely) benign	2 labs	5536877ee2
9:35059053 VCP A>C	9	35059053	35059053	A	C	VCP	c.2160+8T>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35059053A>C	(Likely) benign	2 labs	554918807e
12:13722871 GRIN2B A>G	12	13722871	13722871	A	G	GRIN2B	c.2252T>C	NM_000834.5	NP_000825.2:p.(Ile751Thr)	NC_000012.11:g.13722871A>G	(Likely) pathogenic	4 labs	554ee536a1
16:89349905 ANKRD11 G>C	16	89349905	89349905	G	C	ANKRD11	c.3045C>G	NM_001256182.2	NP_001243111.1:p.(Pro1015=)	NC_000016.9:g.89349905G>C	(Likely) benign	2 labs	555797b37f
5:36686159 SLC1A3 G>C	5	36686159	36686159	G	C	SLC1A3	c.1425-8G>C	NM_004172.4	NP_004163.3:p.?	NC_000005.9:g.36686159G>C	(Likely) benign	2 labs	5552f387dc
9:32459519 RIGI C>T	9	32459519	32459519	C	T	RIGI	c.2338-7G>A	NM_014314.3	NP_055129.2:p.?	NC_000009.11:g.32459519C>T	(Likely) benign	2 labs	55615f8908
17:63193278 RGS9 T>C	17	63193278	63193278	T	C	RGS9	c.895T>C	NM_003835.4	NP_003826.2:p.(Trp299Arg)	NC_000017.10:g.63193278T>C	(Likely) pathogenic	4 labs	f1655160a4
12:8757481 AICDA G>A	12	8757481	8757481	G	A	AICDA	c.465C>T	NM_020661.4	NP_065712.1:p.(His155=)	NC_000012.11:g.8757481G>A	(Likely) benign	2 labs	f1666a7e85
15:90176044 KIF7 G>A	15	90176044	90176044	G	A	KIF7	c.2895+7C>T	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90176044G>A	(Likely) benign	2 labs	557d32caea
10:69908215 MYPN C>A	10	69908215	69908215	C	A	MYPN	c.354C>A	NM_001256268.2	NP_001243197.1:p.(Thr118=)	NC_000010.10:g.69908215C>A	(Likely) benign	4 labs	f1682c952b
22:32875190 FBXO7 G>A	22	32875190	32875190	G	A	FBXO7	c.108G>A	NM_001033024.2	NP_001028196.1:p.(Met36Ile)	NC_000022.10:g.32875190G>A	(Likely) benign	3 labs	f16b201134
X:108696822 GUCY2F G>A	X	108696822	108696822	G	A	GUCY2F	c.1299C>T	NM_001522.3	NP_001513.2:p.(Phe433=)	NC_000023.10:g.108696822G>A	(Likely) benign	2 labs	558073b8d0
16:1634273 IFT140 C>T	16	1634273	1634273	C	T	IFT140	c.1304G>A	NM_014714.3	NP_055529.2:p.(Gly435Glu)	NC_000016.9:g.1634273C>T	VUS	2 labs	558abd3e14
7:21940868 DNAH11 C>T	7	21940868	21940868	C	T	DNAH11				NC_000007.13:g.21940868C>T	(Likely) benign	2 labs	55969575f4
1:237604682 RYR2 G>A	1	237604682	237604682	G	A	RYR2	c.1069G>A	NM_001035.3	NP_001026.2:p.(Gly357Ser)	NC_000001.10:g.237604682G>A	(Likely) pathogenic	4 labs	f1758a6d2e
19:6707878 C3 G>A	19	6707878	6707878	G	A	C3	c.1908C>T	NM_000064.2	NP_000055.2:p.(Ala636=)	NC_000019.9:g.6707878G>A	(Likely) benign	3 labs	55a1c771ce
5:118788316 HSD17B4 G>A	5	118788316	118788316	G	A	HSD17B4	c.46G>A	NM_000414.4	NP_000405.1:p.(Gly16Ser)	NC_000005.9:g.118788316G>A	(Likely) pathogenic	3 labs	55a5204cde
13:110895092 COL4A1 A>G	13	110895092	110895092	A	G	COL4A1	c.85-11T>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110895092A>G	(Likely) benign	3 labs	55a2401338
8:61777772 CHD7 TCAGAATCTC>T	8	61777772	61777793	TCAGAATCTC	T	CHD7	c.8287_8295del	NM_017780.4	NP_060250.2:p.(Asn2763_Gln2765del)	NC_000008.10:g.61777785_61777793del	VUS	2 labs	f1782dc38b
7:6026886 PMS2 C>G	7	6026886	6026886	C	G	PMS2	c.1510G>C	NM_000535.7	NP_000526.2:p.(Glu504Gln)	NC_000007.13:g.6026886C>G	(Likely) benign	2 labs	f1789ed2bb
2:227942748 COL4A4 GT>G	2	227942748	227942749	GT	G	COL4A4	c.1848del	NM_000092.5	NP_000083.3:p.(Pro617LeufsTer36)	NC_000002.11:g.227942749del	(Likely) pathogenic	3 labs	55a864f7ae
10:15714702 ITGA8 T>G	10	15714702	15714702	T	G	ITGA8	c.723A>C	NM_003638.2	NP_003629.2:p.(Ser241=)	NC_000010.10:g.15714702T>G	(Likely) benign	2 labs	55b3d12b9c
2:179457499 TTN C>T	2	179457499	179457499	C	T	TTN	c.59344+3G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179457499C>T	(Likely) benign	4 labs	55c2e9040e
7:103138251 RELN C>T	7	103138251	103138251	C	T	RELN	c.8950+16G>A	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103138251C>T	(Likely) benign	3 labs	f17ac9f972
10:15573110 ITGA8 A>G	10	15573110	15573110	A	G	ITGA8	c.2921T>C	NM_003638.3	NP_003629.2:p.(Phe974Ser)	NC_000010.10:g.15573110A>G	VUS	2 labs	f1845268a9
6:33138677 COL11A2 G>A	6	33138677	33138677	G	A	COL11A2	c.3384C>T	NM_080680.3	NP_542411.2:p.(Pro1128=)	NC_000006.11:g.33138677G>A	(Likely) benign	2 labs	f185de9c1c
2:179396006 TTN C>T	2	179396006	179396006	C	T	TTN	c.105336G>A	NM_001267550.2	NP_001254479.2:p.(Lys35112=)	NC_000002.11:g.179396006C>T	(Likely) benign	2 labs	f186aff2a3
18:12340319 AFG3L2 G>C	18	12340319	12340319	G	C	AFG3L2	c.1861C>G	NM_006796.2	NP_006787.2:p.(Leu621Val)	NC_000018.9:g.12340319G>C	VUS	2 labs	55d5bda029
2:166904176 SCN1A T>G	2	166904176	166904176	T	G	SCN1A	c.1131A>C	NM_001165963.2	NP_001159435.1:p.(Arg377=)	NC_000002.11:g.166904176T>G	(Likely) benign	2 labs	55db01a653
4:996535 IDUA G>A	4	996535	996535	G	A	IDUA	c.1205G>A	NM_000203.5	NP_000194.2:p.(Trp402Ter)	NC_000004.11:g.996535G>A	(Likely) pathogenic	4 labs	55eb1580b3
17:41234464 BRCA1 G>C	17	41234464	41234464	G	C	BRCA1	c.4314C>G	NM_007294.4	NP_009225.1:p.(Ala1438=)	NC_000017.10:g.41234464G>C	(Likely) benign	5 labs	f18fe640bf
20:57429655 GNAS G>A	20	57429655	57429655	G	A	GNAS	c.1148G>A	NM_001077490.2	NP_001070958.1:p.(Arg383Gln)	NC_000020.10:g.57429655G>A	(Likely) benign	2 labs	55f006c895
8:100133450 VPS13B A>G	8	100133450	100133450	A	G	VPS13B	c.983A>G	NM_017890.5	NP_060360.3:p.(His328Arg)	NC_000008.10:g.100133450A>G	(Likely) benign	4 labs	55f81f69dc
1:228480319 OBSCN G>C	1	228480319	228480319	G	C	OBSCN	c.10699G>C	NM_052843.4	NP_443075.3:p.(Val3567Leu)	NC_000001.10:g.228480319G>C	(Likely) benign	2 labs	f1928eec92
12:32875577 DNM1L A>G	12	32875577	32875577	A	G	DNM1L	c.1118+10A>G	NM_001278464.1	NP_001265393.1:p.?	NC_000012.11:g.32875577A>G	(Likely) benign	2 labs	55fa51b320
10:123276885 FGFR2 C>T	10	123276885	123276885	C	T	FGFR2	c.1032G>A	NM_000141.5	NP_000132.3:p.(Ala344=)	NC_000010.10:g.123276885C>T	(Likely) pathogenic	2 labs	55f5844441
1:43805093 MPL T>C	1	43805093	43805093	T	C	MPL	c.543T>C	NM_005373.2	NP_005364.1:p.(Gly181=)	NC_000001.10:g.43805093T>C	(Likely) benign	2 labs	5604b561a3
X:76937681 ATRX C>G	X	76937681	76937681	C	G	ATRX	c.3067G>C	NM_000489.5	NP_000480.3:p.(Glu1023Gln)	NC_000023.10:g.76937681C>G	VUS	2 labs	56060c2f71
4:5570317 EVC2 G>A	4	5570317	5570317	G	A	EVC2	c.3171C>T	NM_001166136.1	NP_001159608.1:p.(Ala1057=)	NC_000004.11:g.5570317G>A	(Likely) benign	2 labs	5607d1e68e
4:186427772 PDLIM3 C>G	4	186427772	186427772	C	G	PDLIM3	c.697G>C	NM_014476.5	NP_055291.2:p.(Val233Leu)	NC_000004.11:g.186427772C>G	(Likely) benign	2 labs	56082c6c95
12:64854016 TBK1 C>T	12	64854016	64854016	C	T	TBK1	c.135C>T	NM_013254.4	NP_037386.1:p.(Phe45=)	NC_000012.11:g.64854016C>T	(Likely) benign	2 labs	560ca9cd98
3:58135716 FLNB C>T	3	58135716	58135716	C	T	FLNB	c.6324C>T	NM_001164317.2	NP_001157789.1:p.(Asp2108=)	NC_000003.11:g.58135716C>T	(Likely) benign	2 labs	5609a92758
13:23911063 SACS C>T	13	23911063	23911063	C	T	SACS	c.6952G>A	NM_014363.5	NP_055178.3:p.(Ala2318Thr)	NC_000013.10:g.23911063C>T	VUS	2 labs	56109e0a67
21:46925141 COL18A1 G>A	21	46925141	46925141	G	A	COL18A1	c.2953G>A	NM_130445.2	NP_569712.2:p.(Gly985Ser)	NC_000021.8:g.46925141G>A	VUS	2 labs	56147ff8f6
6:7574487 DSP T>A	6	7574487	7574487	T	A	DSP	c.2297+2T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574487T>A	(Likely) pathogenic	3 labs	56186f93da
1:228346156 GJC2 C>G	1	228346156	228346156	C	G	GJC2	c.697C>G	NM_020435.4	NP_065168.2:p.(Leu233Val)	NC_000001.10:g.228346156C>G	VUS	2 labs	562824815a
8:61767070 CHD7 G>A	8	61767070	61767070	G	A	CHD7				NC_000008.10:g.61767070G>A	(Likely) benign	2 labs	69a403535f
12:111348899 MYL2 G>T	12	111348899	111348899	G	T	MYL2	c.483C>A	NM_000432.4	NP_000423.2:p.(His161Gln)	NC_000012.11:g.111348899G>T	(Likely) pathogenic	2 labs	562aa69ebf
17:41246344 BRCA1 C>A	17	41246344	41246344	C	A	BRCA1	c.1204G>T	NM_007294.4	NP_009225.1:p.(Glu402Ter)	NC_000017.10:g.41246344C>A	(Likely) pathogenic	4 labs	56376a6890
2:178096406 NFE2L2 G>A	2	178096406	178096406	G	A	NFE2L2	c.877C>T	NM_001145412.3	NP_001138884.1:p.(Leu293Phe)	NC_000002.11:g.178096406G>A	(Likely) benign	2 labs	563e4ad1f8
6:112575014 LAMA4 A>G	6	112575014	112575014	A	G	LAMA4	c.339T>C	NM_001105209.3	NP_001098679.1:p.(Leu113=)	NC_000006.11:g.112575014A>G	(Likely) benign	4 labs	f19e821e91
19:111437 OR4F17 G>A	19	111437	111437	G	A	OR4F17	c.759G>A	NM_001005240.2	NP_001005240.1:p.(Trp253Ter)	NC_000019.9:g.111437G>A	(Likely) benign	2 labs	56540df194
4:110687846 CFI C>T	4	110687846	110687846	C	T	CFI	c.192G>A	NM_001318057.1	NP_001304986.1:p.(Pro64=)	NC_000004.11:g.110687846C>T	(Likely) benign	2 labs	5666dc2c06
3:37061817 MLH1 C>T	3	37061817	37061817	C	T	MLH1	c.901C>T	NM_000249.3	NP_000240.1:p.(Gln301Ter)	NC_000003.11:g.37061817C>T	(Likely) pathogenic	2 labs	5666ece958
17:43531307 PLEKHM1 G>A	17	43531307	43531307	G	A	PLEKHM1	c.1911C>T	NM_014798.2	NP_055613.1:p.(Asn637=)	NC_000017.10:g.43531307G>A	(Likely) benign	2 labs	5668d5fac8
10:123325169 FGFR2 C>T	10	123325169	123325169	C	T	FGFR2	c.159G>A	NM_000141.4	NP_000132.3:p.(Ala53=)	NC_000010.10:g.123325169C>T	(Likely) benign	2 labs	566c9e3fed
2:15676649 NBAS G>A	2	15676649	15676649	G	A	NBAS	c.540C>T	NM_015909.3	NP_056993.2:p.(Ser180=)	NC_000002.11:g.15676649G>A	(Likely) benign	2 labs	5671ab3036
6:170181411 ERMARD A>AT	6	170181411	170181421	A	AT	ERMARD	c.1854-5dup	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170181421dup	(Likely) benign	2 labs	567b031ef3
16:3860700 CREBBP C>T	16	3860700	3860700	C	T	CREBBP	c.879G>A	NM_004380.2	NP_004371.2:p.(Val293=)	NC_000016.9:g.3860700C>T	(Likely) benign	3 labs	567c0e822d
9:420404 DOCK8 T>C	9	420404	420404	T	C	DOCK8	c.3844T>C	NM_203447.3	NP_982272.2:p.(Tyr1282His)	NC_000009.11:g.420404T>C	VUS	2 labs	5680daccb0
17:41223155 BRCA1 G>C	17	41223155	41223155	G	C	BRCA1	c.4776C>G	NM_007294.4	NP_009225.1:p.(Asn1592Lys)	NC_000017.10:g.41223155G>C	(Likely) benign	2 labs	568ea9fe33
10:112572492 RBM20 C>T	10	112572492	112572492	C	T	RBM20	c.2337C>T	NM_001134363.3	NP_001127835.2:p.(Pro779=)	NC_000010.10:g.112572492C>T	(Likely) benign	2 labs	5691fae902
16:57974240 CNGB1 G>A	16	57974240	57974240	G	A	CNGB1	c.1122-15C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57974240G>A	(Likely) benign	3 labs	569eeb9ced
15:51014367 SPPL2A A>T	15	51014367	51014367	A	T	SPPL2A	c.1281T>A	NM_032802.4	NP_116191.2:p.(Asp427Glu)	NC_000015.9:g.51014367A>T	(Likely) benign	2 labs	569c925c23
17:7606650 WRAP53 T>C	17	7606650	7606650	T	C	WRAP53	c.1493T>C	NM_018081.2	NP_060551.2:p.(Leu498Pro)	NC_000017.10:g.7606650T>C	(Likely) benign	2 labs	56a6dce682
4:170398485 NEK1 G>A	4	170398485	170398485	G	A	NEK1	c.2224C>T	NM_001199397.1	NP_001186326.1:p.(Arg742Cys)	NC_000004.11:g.170398485G>A	VUS	3 labs	56aa06533a
5:89953850 ADGRV1 G>A	5	89953850	89953850	G	A	ADGRV1	c.4507G>A	NM_032119.4	NP_115495.3:p.(Ala1503Thr)	NC_000005.9:g.89953850G>A	VUS	2 labs	56b3234d64
16:56936320 SLC12A3 G>A	16	56936320	56936320	G	A	SLC12A3	c.2783G>A	NM_000339.2	NP_000330.2:p.(Arg928His)	NC_000016.9:g.56936320G>A	VUS	2 labs	56aea04345
3:37070339 MLH1 G>A	3	37070339	37070339	G	A	MLH1	c.1474G>A	NM_000249.4	NP_000240.1:p.(Ala492Thr)	NC_000003.11:g.37070339G>A	(Likely) benign	5 labs	f1b71188c6
6:32814909 TAP1 C>T	6	32814909	32814909	C	T	TAP1	c.1976G>A	NM_000593.6	NP_000584.3:p.(Arg659Gln)	NC_000006.11:g.32814909C>T	VUS	3 labs	56bc6f92ba
19:40901604 PRX A>G	19	40901604	40901604	A	G	PRX	c.2655T>C	NM_181882.3	NP_870998.2:p.(Pro885=)	NC_000019.9:g.40901604A>G	(Likely) benign	3 labs	f1b8a965c6
7:99701709 AP4M1 T>G	7	99701709	99701709	T	G	AP4M1	c.544-6T>G	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99701709T>G	VUS	3 labs	56c933ca5f
2:44190789 LRPPRC T>C	2	44190789	44190789	T	C	LRPPRC	c.1426A>G	NM_133259.4	NP_573566.2:p.(Thr476Ala)	NC_000002.11:g.44190789T>C	VUS	2 labs	56d908ed85
X:154057809 SMIM9 C>T	X	154057809	154057809	C	T	SMIM9	c.272+1G>A	NM_001162936.1	NP_001156408.1:p.?	NC_000023.10:g.154057809C>T	VUS	2 labs	56d282eb93
7:128486526 FLNC C>T	7	128486526	128486526	C	T	FLNC	c.4127+9C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128486526C>T	(Likely) benign	2 labs	56d4aa178a
3:123650335 CCDC14 G>A	3	123650335	123650335	G	A	CCDC14	c.1465C>T	NM_001366335.1	NP_001353264.1:p.(Gln489Ter)	NC_000003.11:g.123650335G>A	VUS	2 labs	56e2f7afec
15:43689494 TUBGCP4 C>T	15	43689494	43689494	C	T	TUBGCP4	c.1254C>T	NM_001286414.2	NP_001273343.1:p.(Ile418=)	NC_000015.9:g.43689494C>T	(Likely) benign	2 labs	56e36ca045
6:32942223 BRD2 G>GT	6	32942223	32942225	G	GT	BRD2	c.30-14dup	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32942225dup	(Likely) benign	2 labs	f1c651af76
8:106815609 ZFPM2 A>G	8	106815609	106815609	A	G	ZFPM2	c.3299A>G	NM_012082.3	NP_036214.2:p.(Gln1100Arg)	NC_000008.10:g.106815609A>G	VUS	2 labs	56ee26bede
4:1805593 FGFR3 G>C	4	1805593	1805593	G	C	FGFR3	c.1075+30G>C	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1805593G>C	(Likely) benign	2 labs	56fa57b386
20:5935893 MCM8 A>G	20	5935893	5935893	A	G	MCM8	c.482A>G	NM_001281521.1	NP_001268450.1:p.(His161Arg)	NC_000020.10:g.5935893A>G	VUS	3 labs	56fbbf8dce
X:53438707 SMC1A C>T	X	53438707	53438707	C	T	SMC1A	c.1188+4G>A	NM_001281463.1	NP_001268392.1:p.?	NC_000023.10:g.53438707C>T	(Likely) benign	2 labs	5704bbfc1c
7:591125 PRKAR1B C>G	7	591125	591125	C	G	PRKAR1B	c.892-18G>C	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.591125C>G	(Likely) benign	2 labs	5701d1d3b2
13:32930690 BRCA2 ATC>A	13	32930690	32930697	ATC	A	BRCA2	c.7567_7568del	NM_000059.4	NP_000050.3:p.(Leu2523GlufsTer15)	NC_000013.10:g.32930696_32930697del	(Likely) pathogenic	2 labs	57098b12e1
17:76117744 TMC6 C>T	17	76117744	76117744	C	T	TMC6	c.1276G>A	NM_001127198.2	NP_001120670.1:p.(Gly426Arg)	NC_000017.10:g.76117744C>T	(Likely) benign	2 labs	5713bf160e
10:88451696 LDB3 G>T	10	88451696	88451696	G	T	LDB3	c.937G>T	NM_001171610.2	NP_001165081.1:p.(Val313Phe)	NC_000010.10:g.88451696G>T	VUS	2 labs	5714b760b1
13:32914356 BRCA2 C>A	13	32914356	32914356	C	A	BRCA2	c.5864C>A	NM_000059.4	NP_000050.3:p.(Ser1955Ter)	NC_000013.10:g.32914356C>A	(Likely) pathogenic	2 labs	f1d077c188
1:152281523 FLG A>G	1	152281523	152281523	A	G	FLG	c.5839T>C	NM_002016.1	NP_002007.1:p.(Trp1947Arg)	NC_000001.10:g.152281523A>G	(Likely) benign	2 labs	5734d92346
1:196920053 CFHR2 A>G	1	196920053	196920053	A	G	CFHR2	c.325A>G	NM_005666.4	NP_005657.1:p.(Thr109Ala)	NC_000001.10:g.196920053A>G	(Likely) benign	2 labs	573d2b9943
13:95131385 DCT G>A	13	95131385	95131385	G	A	DCT	c.125C>T	NM_001922.5	NP_001913.2:p.(Pro42Leu)	NC_000013.10:g.95131385G>A	VUS	2 labs	f1e8d5895a
8:95861739 INTS8 G>A	8	95861739	95861739	G	A	INTS8	c.1310G>A	NM_017864.3	NP_060334.2:p.(Gly437Glu)	NC_000008.10:g.95861739G>A	(Likely) benign	2 labs	5743a4db87
16:15917161 MYH11 C>T	16	15917161	15917161	C	T	MYH11	c.453G>A	NM_001040113.2	NP_001035202.1:p.(Pro151=)	NC_000016.9:g.15917161C>T	(Likely) benign	3 labs	573e774b71
9:123342275 CDK5RAP2 A>G	9	123342275	123342275	A	G	CDK5RAP2	n.171T>C	NR_073556.2		NC_000009.11:g.123342275A>G	(Likely) benign	3 labs	5747a1b75e
14:23901007 MYH7 A>G	14	23901007	23901007	A	G	MYH7	c.602T>C	NM_000257.4	NP_000248.2:p.(Ile201Thr)	NC_000014.8:g.23901007A>G	(Likely) pathogenic	2 labs	574842076e
1:11090885 MASP2 G>A	1	11090885	11090885	G	A	MASP2	c.1142C>T	NM_006610.4	NP_006601.2:p.(Thr381Ile)	NC_000001.10:g.11090885G>A	VUS	2 labs	5750df23f9
10:112570243 RBM20 T>C	10	112570243	112570243	T	C	RBM20	c.1880+23T>C	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112570243T>C	(Likely) benign	2 labs	57524382a5
8:23559975 NKX2-6 T>C	8	23559975	23559975	T	C	NKX2-6	c.895A>G	NM_001136271.3	NP_001129743.2:p.(Arg299Gly)	NC_000008.10:g.23559975T>C	VUS	2 labs	f1f3affe08
12:124210782 ATP6V0A2 T>C	12	124210782	124210782	T	C	ATP6V0A2	c.471T>C	NM_012463.4	NP_036595.2:p.(Ser157=)	NC_000012.11:g.124210782T>C	(Likely) benign	3 labs	575d91924c
1:43904434 SZT2 C>T	1	43904434	43904434	C	T	SZT2	c.6402C>T	NM_015284.3	NP_056099.3:p.(Asp2134=)	NC_000001.10:g.43904434C>T	(Likely) benign	2 labs	57624fb55e
8:145739598 RECQL4 C>T	8	145739598	145739598	C	T	RECQL4	c.1853G>A	NM_004260.3	NP_004251.3:p.(Arg618Gln)	NC_000008.10:g.145739598C>T	VUS	3 labs	576c81c3c3
10:21177143 NEBL G>GA	10	21177143	21177152	G	GA	NEBL	c.259-8dup	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21177152dup	(Likely) benign	2 labs	576c81f899
1:235894211 LYST C>T	1	235894211	235894211	C	T	LYST	c.8980G>A	NM_000081.3	NP_000072.2:p.(Glu2994Lys)	NC_000001.10:g.235894211C>T	VUS	2 labs	576da6494c
4:103578894 MANBA C>T	4	103578894	103578894	C	T	MANBA	c.1649G>A	NM_005908.3	NP_005899.3:p.(Arg550Gln)	NC_000004.11:g.103578894C>T	VUS	2 labs	576f5f9fc5
11:61724875 BEST1 G>A	11	61724875	61724875	G	A	BEST1	c.473G>A	NM_001139443.1	NP_001132915.1:p.(Arg158His)	NC_000011.9:g.61724875G>A	(Likely) pathogenic	2 labs	57743559bc
14:64484337 SYNE2 T>C	14	64484337	64484337	T	C	SYNE2	c.4912T>C	NM_182914.3	NP_878918.2:p.(Tyr1638His)	NC_000014.8:g.64484337T>C	(Likely) benign	3 labs	f200a9b301
2:186668645 FSIP2 T>G	2	186668645	186668645	T	G	FSIP2	c.14612T>G	NM_173651.4	NP_775922.3:p.(Leu4871Arg)	NC_000002.11:g.186668645T>G	VUS	2 labs	f207a10a54
1:165712555 TMCO1 GA>G	1	165712555	165712570	GA	G	TMCO1	c.324-8del	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165712570del	(Likely) benign	3 labs	578e0ef5fa
X:66765158 AR T>TGCAGCA	X	66765158	66765227	T	TGCAGCA	AR	c.234_239dup	NM_000044.6	NP_000035.2:p.(Gln79_Gln80dup)	NC_000023.10:g.66765222_66765227dup	(Likely) benign	4 labs	57899a074a
8:95888452 INTS8 T>C	8	95888452	95888452	T	C	INTS8	c.2766T>C	NM_017864.3	NP_060334.2:p.(His922=)	NC_000008.10:g.95888452T>C	(Likely) benign	2 labs	57987f7a52
X:138612931 F9 G>A	X	138612931	138612931	G	A	F9	c.8G>A	NM_000133.3	NP_000124.1:p.(Arg3His)	NC_000023.10:g.138612931G>A	(Likely) benign	2 labs	57a2b70db5
8:77895546 PEX2 A>C	8	77895546	77895546	A	C	PEX2	c.869T>G	NM_001172086.1	NP_001165557.1:p.(Leu290Arg)	NC_000008.10:g.77895546A>C	VUS	2 labs	57a4c6be75
12:6101027 VWF C>T	12	6101027	6101027	C	T	VWF	c.6756G>A	NM_000552.3	NP_000543.2:p.(Glu2252=)	NC_000012.11:g.6101027C>T	(Likely) benign	2 labs	57aab3546a
5:140077210 HARS2 G>C	5	140077210	140077210	G	C	HARS2	c.1254G>C	NM_012208.3	NP_036340.1:p.(Gln418His)	NC_000005.9:g.140077210G>C	(Likely) benign	2 labs	57adf2ac76
19:10291473 DNMT1 C>T	19	10291473	10291473	C	T	DNMT1	c.206G>A	NM_001130823.3	NP_001124295.1:p.(Arg69His)	NC_000019.9:g.10291473C>T	(Likely) benign	4 labs	57ad295f3c
3:132415642 NPHP3 G>A	3	132415642	132415642	G	A	NPHP3	c.2104C>T	NM_153240.5	NP_694972.3:p.(Arg702Ter)	NC_000003.11:g.132415642G>A	(Likely) pathogenic	3 labs	57b42e7503
11:67817647 TCIRG1 T>A	11	67817647	67817647	T	A	TCIRG1				NC_000011.9:g.67817647T>A	VUS	2 labs	57b3959b75
X:50438789 SHROOM4 C>T	X	50438789	50438789	C	T	SHROOM4	c.266G>A	NM_020717.4	NP_065768.2:p.(Arg89Lys)	NC_000023.10:g.50438789C>T	(Likely) benign	3 labs	57b40a44de
22:46125480 ATXN10 G>T	22	46125480	46125480	G	T	ATXN10	c.894+10G>T	NM_013236.3	NP_037368.1:p.?	NC_000022.10:g.46125480G>T	(Likely) benign	2 labs	57bb6be872
4:155507580 FGA C>T	4	155507580	155507580	C	T	FGA	c.1001G>A	NM_000508.5	NP_000499.1:p.(Trp334Ter)	NC_000004.11:g.155507580C>T	(Likely) pathogenic	3 labs	f210dc023d
5:126156598 LMNB1 A>G	5	126156598	126156598	A	G	LMNB1	c.1161-4A>G	NM_005573.3	NP_005564.1:p.?	NC_000005.9:g.126156598A>G	(Likely) benign	2 labs	57c8aa6e9d
22:21348002 LZTR1 G>T	22	21348002	21348002	G	T	LZTR1	c.1312G>T	NM_006767.4	NP_006758.2:p.(Glu438Ter)	NC_000022.10:g.21348002G>T	(Likely) pathogenic	3 labs	57c9713e96
2:208994353 CRYGC CAGT>C	2	208994353	208994356	CAGT	C	CRYGC	c.61_63del	NM_020989.4	NP_066269.1:p.(Thr21del)	NC_000002.11:g.208994354_208994356del	(Likely) pathogenic	3 labs	57cc6e769a
16:2153345 PKD1 C>T	16	2153345	2153345	C	T	PKD1	c.8713G>A	NM_001009944.2	NP_001009944.2:p.(Val2905Ile)	NC_000016.9:g.2153345C>T	(Likely) benign	3 labs	57d6e2d38d
17:7606722 WRAP53 C>G	17	7606722	7606722	C	G	WRAP53	c.1565C>G	NM_018081.2	NP_060551.2:p.(Ala522Gly)	NC_000017.10:g.7606722C>G	(Likely) benign	2 labs	f212469e23
15:48720608 FBN1 C>T	15	48720608	48720608	C	T	FBN1	c.6932G>A	NM_000138.5	NP_000129.3:p.(Arg2311His)	NC_000015.9:g.48720608C>T	(Likely) benign	2 labs	f21282e1c6
17:10541610 MYH3 G>A	17	10541610	10541610	G	A	MYH3	c.3479C>T	NM_002470.4	NP_002461.2:p.(Thr1160Met)	NC_000017.10:g.10541610G>A	VUS	2 labs	57e4969f4d
4:103610730 MANBA C>T	4	103610730	103610730	C	T	MANBA	c.960+1G>A	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103610730C>T	(Likely) pathogenic	2 labs	57e258160f
20:61981303 CHRNA4 C>T	20	61981303	61981303	C	T	CHRNA4	c.1460G>A	NM_000744.7	NP_000735.1:p.(Arg487Gln)	NC_000020.10:g.61981303C>T	(Likely) benign	3 labs	f21dd2bef7
6:131946054 MED23 G>A	6	131946054	131946054	G	A	MED23	c.235C>T	NM_004830.4	NP_004821.2:p.(Leu79Phe)	NC_000006.11:g.131946054G>A	VUS	2 labs	57e5acc434
8:145742791 RECQL4 TG>T	8	145742791	145742794	TG	T	RECQL4	c.213+6del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145742794del	(Likely) benign	2 labs	57ed0e8304
6:32818297 TAP1 G>A	6	32818297	32818297	G	A	TAP1	c.1231-3C>T	NM_000593.5	NP_000584.2:p.?	NC_000006.11:g.32818297G>A	(Likely) benign	2 labs	57f1681859
5:176721272 NSD1 G>C	5	176721272	176721272	G	C	NSD1	c.6903G>C	NM_022455.5	NP_071900.2:p.(Gly2301=)	NC_000005.9:g.176721272G>C	(Likely) benign	3 labs	57fc68d638
X:119680456 CUL4B G>A	X	119680456	119680456	G	A	CUL4B	c.846C>T	NM_003588.3	NP_003579.3:p.(Ser282=)	NC_000023.10:g.119680456G>A	(Likely) benign	2 labs	57f97ab6f8
5:11346592 CTNND2 T>G	5	11346592	11346592	T	G	CTNND2	c.1520A>C	NM_001332.3	NP_001323.1:p.(Gln507Pro)	NC_000005.9:g.11346592T>G	VUS	2 labs	57fcbd2d92
11:44289105 ALX4 C>T	11	44289105	44289105	C	T	ALX4	c.845G>A	NM_021926.4	NP_068745.2:p.(Arg282Gln)	NC_000011.9:g.44289105C>T	VUS	2 labs	f221bf6902
15:35086857 ACTC1 C>CG	15	35086857	35086863	C	CG	ACTC1	c.129+23dup	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35086863dup	(Likely) benign	2 labs	580258151e
1:237813207 RYR2 G>A	1	237813207	237813207	G	A	RYR2	c.7543G>A	NM_001035.2	NP_001026.2:p.(Ala2515Thr)	NC_000001.10:g.237813207G>A	VUS	2 labs	5803a2948d
10:103826689 HPS6 G>A	10	103826689	103826689	G	A	HPS6	c.1458G>A	NM_024747.6	NP_079023.2:p.(Ala486=)	NC_000010.10:g.103826689G>A	(Likely) benign	2 labs	5801296323
2:179397430 TTN G>A	2	179397430	179397430	G	A	TTN	c.103912C>T	NM_001267550.2	NP_001254479.2:p.(Arg34638Cys)	NC_000002.11:g.179397430G>A	VUS	2 labs	580d42c943
X:123787615 TENM1 G>A	X	123787615	123787615	G	A	TENM1	c.1187C>T	NM_001163278.1	NP_001156750.1:p.(Ala396Val)	NC_000023.10:g.123787615G>A	(Likely) benign	2 labs	580da47b91
17:48669450 CACNA1G G>A	17	48669450	48669450	G	A	CACNA1G	c.2907G>A	NM_018896.4	NP_061496.2:p.(Ala969=)	NC_000017.10:g.48669450G>A	(Likely) benign	2 labs	580f68fdaf
19:48637278 LIG1 G>A	19	48637278	48637278	G	A	LIG1	c.1566C>T	NM_001320970.1	NP_001307899.1:p.(His522=)	NC_000019.9:g.48637278G>A	(Likely) benign	2 labs	581068cdc1
10:123243197 FGFR2 G>A	10	123243197	123243197	G	A	FGFR2	c.2304+15C>T	NM_022970.3	NP_075259.4:p.?	NC_000010.10:g.123243197G>A	(Likely) benign	5 labs	f2262a81e6
8:55372177 SOX17 A>T	8	55372177	55372177	A	T	SOX17	c.867A>T	NM_022454.3	NP_071899.1:p.(Pro289=)	NC_000008.10:g.55372177A>T	(Likely) benign	2 labs	5818bb041f
5:40980013 C7 T>C	5	40980013	40980013	T	C	C7	c.2350+2T>C	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40980013T>C	(Likely) pathogenic	4 labs	581aa63f2c
1:116247790 CASQ2 G>A	1	116247790	116247790	G	A	CASQ2	c.939+23C>T	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116247790G>A	(Likely) benign	2 labs	581c9d6491
5:13886244 DNAH5 CAAA>C	5	13886244	13886263	CAAA	C	DNAH5	c.2578-9_2578-7del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886261_13886263del	(Likely) benign	2 labs	581fd5c1a6
11:66461666 SPTBN2 G>A	11	66461666	66461666	G	A	SPTBN2	c.4447C>T	NM_006946.3	NP_008877.1:p.(Arg1483Cys)	NC_000011.9:g.66461666G>A	(Likely) benign	2 labs	582472cfe4
11:93517886 MED17 G>C	11	93517886	93517886	G	C	MED17	c.207G>C	NM_004268.5	NP_004259.3:p.(Glu69Asp)	NC_000011.9:g.93517886G>C	(Likely) benign	3 labs	f229d09a43
5:1293609 TERT G>A	5	1293609	1293609	G	A	TERT	c.1392C>T	NM_198253.2	NP_937983.2:p.(Phe464=)	NC_000005.9:g.1293609G>A	(Likely) benign	2 labs	5826d20844
X:70346262 MED12 G>A	X	70346262	70346262	G	A	MED12	c.2613G>A	NM_005120.2	NP_005111.2:p.(Gln871=)	NC_000023.10:g.70346262G>A	(Likely) benign	2 labs	58284179d1
17:40375392 STAT5B C>T	17	40375392	40375392	C	T	STAT5B	c.550+8G>A	NM_012448.3	NP_036580.2:p.?	NC_000017.10:g.40375392C>T	(Likely) benign	2 labs	582882f69b
16:55705760 SLC6A2 T>G	16	55705760	55705760	T	G	SLC6A2	c.2T>G	NM_001172502.1	NP_001165973.1:p.(Met1?)	NC_000016.9:g.55705760T>G	(Likely) benign	2 labs	583968bc40
X:24382373 SUPT20HL1 TTGCTGCTGCTGC>T	X	24382373	24382428	TTGCTGCTGCTGC	T	SUPT20HL1	c.1540_1551del	NM_001136234.3	NP_001129706.3:p.(Ala514_Ala517del)	NC_000023.10:g.24382417_24382428del	VUS	2 labs	5845a4a55e
2:169847329 ABCB11 T>C	2	169847329	169847329	T	C	ABCB11	c.890A>G	NM_003742.4	NP_003733.2:p.(Glu297Gly)	NC_000002.11:g.169847329T>C	(Likely) pathogenic	5 labs	5847c4cc14
16:1259257 CACNA1H G>A	16	1259257	1259257	G	A	CACNA1H	c.3589G>A	NM_021098.3	NP_066921.2:p.(Glu1197Lys)	NC_000016.9:g.1259257G>A	(Likely) benign	4 labs	584cf23e97
8:145699642 FOXH1 C>T	8	145699642	145699642	C	T	FOXH1	c.1077G>A	NM_003923.2	NP_003914.1:p.(Leu359=)	NC_000008.10:g.145699642C>T	(Likely) benign	2 labs	5856645514
X:106312605 RBM41 G>A	X	106312605	106312605	G	A	RBM41	c.955C>T	NM_001171080.1	NP_001164551.1:p.(Arg319Trp)	NC_000023.10:g.106312605G>A	(Likely) benign	2 labs	585efd9c8d
5:94803593 SKIC3 T>C	5	94803593	94803593	T	C	SKIC3	c.4597A>G	NM_014639.3	NP_055454.1:p.(Lys1533Glu)	NC_000005.9:g.94803593T>C	VUS	2 labs	586411dceb
18:29171938 TTR A>T	18	29171938	29171938	A	T	TTR	c.69+4A>T	NM_000371.3	NP_000362.1:p.?	NC_000018.9:g.29171938A>T	VUS	2 labs	5865630ea9
1:152283922 FLG T>C	1	152283922	152283922	T	C	FLG	c.3440A>G	NM_002016.1	NP_002007.1:p.(Glu1147Gly)	NC_000001.10:g.152283922T>C	(Likely) benign	2 labs	5871d626ad
X:153296853 MECP2 G>A	X	153296853	153296853	G	A	MECP2	c.426C>T	NM_004992.4	NP_004983.1:p.(Phe142=)	NC_000023.10:g.153296853G>A	(Likely) benign	2 labs	587473cd21
1:27099465 ARID1A C>T	1	27099465	27099465	C	T	ARID1A	c.3702C>T	NM_006015.6	NP_006006.3:p.(Gly1234=)	NC_000001.10:g.27099465C>T	(Likely) benign	2 labs	587921e509
13:39454711 FREM2 C>T	13	39454711	39454711	C	T	FREM2	c.9297C>T	NM_207361.5	NP_997244.4:p.(Pro3099=)	NC_000013.10:g.39454711C>T	(Likely) benign	2 labs	588850c2dc
16:56535380 BBS2 A>G	16	56535380	56535380	A	G	BBS2	c.1110T>C	NM_031885.5	NP_114091.4:p.(Ala370=)	NC_000016.9:g.56535380A>G	(Likely) benign	3 labs	588f9982c4
12:57881951 MARS1 A>G	12	57881951	57881951	A	G	MARS1	c.78A>G	NM_004990.4	NP_004981.2:p.(Ala26=)	NC_000012.11:g.57881951A>G	(Likely) benign	2 labs	58931d47e5
19:36549690 WDR62 C>T	19	36549690	36549690	C	T	WDR62	c.186C>T	NM_001083961.1	NP_001077430.1:p.(Leu62=)	NC_000019.9:g.36549690C>T	(Likely) benign	2 labs	589b342a78
15:44888350 SPG11 C>G	15	44888350	44888350	C	G	SPG11	c.4365G>C	NM_025137.3	NP_079413.3:p.(Trp1455Cys)	NC_000015.9:g.44888350C>G	(Likely) benign	2 labs	58a4e9b3b4
9:14756418 FREM1 T>C	9	14756418	14756418	T	C	FREM1	c.5361A>G	NM_144966.5	NP_659403.4:p.(Gly1787=)	NC_000009.11:g.14756418T>C	(Likely) benign	2 labs	58a834dcb2
5:149435586 CSF1R C>T	5	149435586	149435586	C	T	CSF1R	c.2554+3G>A	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149435586C>T	(Likely) benign	3 labs	58a623cd7e
10:55581929 PCDH15 T>G	10	55581929	55581929	T	G	PCDH15	c.5578A>C	NM_001142763.2	NP_001136235.1:p.(Met1860Leu)	NC_000010.10:g.55581929T>G	(Likely) benign	2 labs	58b38e477e
2:136575534 LCT T>C	2	136575534	136575534	T	C	LCT	c.1084A>G	NM_002299.4	NP_002290.2:p.(Ile362Val)	NC_000002.11:g.136575534T>C	(Likely) benign	2 labs	f2483433f5
14:64457747 SYNE2 C>G	14	64457747	64457747	C	G	SYNE2	c.2560C>G	NM_182914.2	NP_878918.2:p.(Gln854Glu)	NC_000014.8:g.64457747C>G	(Likely) benign	2 labs	58cb6dcc4c
1:216246591 USH2A T>C	1	216246591	216246591	T	C	USH2A	c.5624A>G	NM_206933.2	NP_996816.2:p.(Asn1875Ser)	NC_000001.10:g.216246591T>C	VUS	2 labs	58d1c27876
11:32456694 WT1 C>A	11	32456694	32456694	C	A	WT1				NC_000011.9:g.32456694C>A	(Likely) benign	2 labs	58d80ae19a
10:50667105 ERCC6 T>C	10	50667105	50667105	T	C	ERCC6	c.4238A>G	NM_000124.4	NP_000115.1:p.(Gln1413Arg)	NC_000010.10:g.50667105T>C	(Likely) benign	3 labs	58dcdd9fd8
X:12734821 FRMPD4 C>G	X	12734821	12734821	C	G	FRMPD4	c.2243C>G	NM_014728.3	NP_055543.2:p.(Ala748Gly)	NC_000023.10:g.12734821C>G	(Likely) benign	2 labs	58e4a2c00e
5:37138824 CPLANE1 G>A	5	37138824	37138824	G	A	CPLANE1	c.8628C>T	NM_023073.3	NP_075561.3:p.(Ser2876=)	NC_000005.9:g.37138824G>A	(Likely) benign	2 labs	58ec648fd3
X:107418906 COL4A6 A>G	X	107418906	107418906	A	G	COL4A6	c.2808T>C	NM_033641.4	NP_378667.1:p.(Arg936=)	NC_000023.10:g.107418906A>G	(Likely) benign	2 labs	f24ea25c95
X:153217121 HCFC1 C>T	X	153217121	153217121	C	T	HCFC1	c.5298G>A	NM_005334.3	NP_005325.2:p.(Pro1766=)	NC_000023.10:g.153217121C>T	(Likely) benign	3 labs	58ef65210e
16:88787778 PIEZO1 C>T	16	88787778	88787778	C	T	PIEZO1	c.5464G>A	NM_001142864.4	NP_001136336.2:p.(Glu1822Lys)	NC_000016.9:g.88787778C>T	(Likely) benign	2 labs	5912106a2f
13:32903604 BRCA2 CTG>C	13	32903604	32903607	CTG	C	BRCA2	c.658_659del	NM_000059.4	NP_000050.3:p.(Val220IlefsTer4)	NC_000013.10:g.32903606_32903607del	(Likely) pathogenic	4 labs	591507b6f2
2:179454404 TTN G>A	2	179454404	179454404	G	A	TTN	c.62048C>T	NM_001267550.2	NP_001254479.2:p.(Thr20683Ile)	NC_000002.11:g.179454404G>A	VUS	2 labs	f25222ba05
19:41928655 BCKDHA C>T	19	41928655	41928655	C	T	BCKDHA	c.975C>T	NM_000709.4	NP_000700.1:p.(Leu325=)	NC_000019.9:g.41928655C>T	(Likely) benign	2 labs	591ac82776
11:61730234 BEST1 T>C	11	61730234	61730234	T	C	BEST1	c.1428T>C	NM_001139443.2	NP_001132915.1:p.(Thr476=)	NC_000011.9:g.61730234T>C	(Likely) benign	3 labs	592c38a42b
21:45750444 CFAP410 C>T	21	45750444	45750444	C	T	CFAP410	c.901G>A	NM_001271441.2	NP_001258370.1:p.(Gly301Arg)	NC_000021.8:g.45750444C>T	(Likely) benign	2 labs	591ee70cfe
6:51523794 PKHD1 G>A	6	51523794	51523794	G	A	PKHD1	c.11130C>T	NM_138694.3	NP_619639.3:p.(Ile3710=)	NC_000006.11:g.51523794G>A	(Likely) benign	3 labs	592f61a8ab
17:29685660 NF1 G>A	17	29685660	29685660	G	A	NF1	c.8113+20G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685660G>A	(Likely) benign	3 labs	5933c6c001
17:10533638 MYH3 G>A	17	10533638	10533638	G	A	MYH3	c.5424C>T	NM_002470.3	NP_002461.2:p.(Gly1808=)	NC_000017.10:g.10533638G>A	VUS	2 labs	59371a3fe9
9:140707848 EHMT1 C>T	9	140707848	140707848	C	T	EHMT1	c.3046C>T	NM_024757.4	NP_079033.4:p.(Arg1016Ter)	NC_000009.11:g.140707848C>T	(Likely) pathogenic	2 labs	593d8eaeda
2:74592252 DCTN1 C>T	2	74592252	74592252	C	T	DCTN1	c.3146G>A	NM_004082.5	NP_004073.2:p.(Arg1049Gln)	NC_000002.11:g.74592252C>T	(Likely) benign	3 labs	593b499ff6
14:23882984 MYH7 C>T	14	23882984	23882984	C	T	MYH7	c.5774G>A	NM_000257.2	NP_000248.2:p.(Arg1925His)	NC_000014.8:g.23882984C>T	VUS	2 labs	594c8caac3
19:45540871 RELB C>T	19	45540871	45540871	C	T	RELB	c.1563C>T	NM_006509.4	NP_006500.2:p.(Ala521=)	NC_000019.9:g.45540871C>T	(Likely) benign	2 labs	594c98c7ab
2:166775948 TTC21B T>G	2	166775948	166775948	T	G	TTC21B	c.1517-5A>C	NM_024753.4	NP_079029.3:p.?	NC_000002.11:g.166775948T>G	(Likely) benign	2 labs	5955d77a9c
11:128709126 KCNJ1 A>G	11	128709126	128709126	A	G	KCNJ1	c.1013T>C	NM_153767.3	NP_722451.1:p.(Met338Thr)	NC_000011.9:g.128709126A>G	(Likely) benign	2 labs	5959dd6005
6:135763841 AHI1 G>A	6	135763841	135763841	G	A	AHI1	c.1791C>T	NM_001134831.2	NP_001128303.1:p.(Ile597=)	NC_000006.11:g.135763841G>A	(Likely) benign	3 labs	595158cb00
2:179612638 TTN T>C	2	179612638	179612638	T	C	TTN	c.14489A>G	NM_133379.5	NP_596870.2:p.(Gln4830Arg)	NC_000002.11:g.179612638T>C	(Likely) benign	3 labs	f2609ba1fc
5:13886244 DNAH5 CAA>C	5	13886244	13886263	CAA	C	DNAH5	c.2578-8_2578-7del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886262_13886263del	(Likely) benign	3 labs	5963d5f5a1
X:21900712 MBTPS2 G>A	X	21900712	21900712	G	A	MBTPS2	c.1499G>A	NM_015884.3	NP_056968.1:p.(Gly500Asp)	NC_000023.10:g.21900712G>A	(Likely) pathogenic	2 labs	5973d01606
3:123019049 ADCY5 C>T	3	123019049	123019049	C	T	ADCY5	c.2818G>A	NM_183357.3	NP_899200.1:p.(Glu940Lys)	NC_000003.11:g.123019049C>T	(Likely) benign	2 labs	597caf30c0
6:129826343 LAMA2 A>G	6	129826343	129826343	A	G	LAMA2	c.8548-2A>G	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129826343A>G	(Likely) pathogenic	2 labs	598d2896e4
11:65488239 RNASEH2C T>C	11	65488239	65488239	T	C	RNASEH2C	c.-10A>G	NM_032193.4	NP_115569.2:p.?	NC_000011.9:g.65488239T>C	(Likely) benign	2 labs	598eedae05
15:66995849 SMAD6 C>T	15	66995849	66995849	C	T	SMAD6	c.253C>T	NM_005585.4	NP_005576.3:p.(Arg85Cys)	NC_000015.9:g.66995849C>T	VUS	2 labs	599198e31d
X:50377101 SHROOM4 T>C	X	50377101	50377101	T	C	SHROOM4	c.1972A>G	NM_020717.3	NP_065768.2:p.(Met658Val)	NC_000023.10:g.50377101T>C	(Likely) benign	2 labs	59943e33cb
2:48027687 MSH6 TATTG>T	2	48027687	48027694	TATTG	T	MSH6	c.2569_2572del	NM_000179.3	NP_000170.1:p.(Asp857PhefsTer10)	NC_000002.11:g.48027691_48027694del	(Likely) pathogenic	2 labs	599c93bf12
4:120072187 MYOZ2 A>G	4	120072187	120072187	A	G	MYOZ2	c.237A>G	NM_016599.5	NP_057683.1:p.(Ala79=)	NC_000004.11:g.120072187A>G	(Likely) benign	5 labs	599e1fcbc5
8:100883799 VPS13B G>C	8	100883799	100883799	G	C	VPS13B	c.11694G>C	NM_017890.5	NP_060360.3:p.(Val3898=)	NC_000008.10:g.100883799G>C	(Likely) benign	3 labs	599d604db5
1:63879807 ALG6 TTAA>T	1	63879807	63879814	TTAA	T	ALG6	c.897_899del	NM_013339.4	NP_037471.2:p.(Ile299del)	NC_000001.10:g.63879812_63879814del	(Likely) pathogenic	4 labs	59a7a26ce2
7:73477665 ELN C>T	7	73477665	73477665	C	T	ELN	c.2070C>T	NM_001278939.1	NP_001265868.1:p.(Ala690=)	NC_000007.13:g.73477665C>T	(Likely) benign	2 labs	59abc75d2d
19:11311390 DOCK6 A>G	19	11311390	11311390	A	G	DOCK6	c.5939+2T>C	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11311390A>G	(Likely) pathogenic	3 labs	59ad7a8db8
12:32893014 DNM1L G>A	12	32893014	32893014	G	A	DNM1L	c.1724G>A	NM_012062.5	NP_036192.2:p.(Gly575Asp)	NC_000012.11:g.32893014G>A	VUS	2 labs	f26617a30d
1:228346609 GJC2 C>T	1	228346609	228346609	C	T	GJC2	c.1150C>T	NM_020435.3	NP_065168.2:p.(Pro384Ser)	NC_000001.10:g.228346609C>T	VUS	2 labs	59b92d9d40
3:47163523 SETD2 T>C	3	47163523	47163523	T	C	SETD2	c.2603A>G	NM_014159.6	NP_054878.5:p.(Asp868Gly)	NC_000003.11:g.47163523T>C	(Likely) benign	2 labs	59bd0c53dc
12:7354399 PEX5 G>C	12	7354399	7354399	G	C	PEX5	c.604G>C	NM_001131025.2	NP_001124497.1:p.(Val202Leu)	NC_000012.11:g.7354399G>C	(Likely) benign	2 labs	f26c035df9
11:68566839 CPT1A G>A	11	68566839	68566839	G	A	CPT1A	c.556-16C>T	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68566839G>A	(Likely) benign	2 labs	f26cd5c4f9
11:65487503 RNASEH2C C>T	11	65487503	65487503	C	T	RNASEH2C	c.468+13G>A	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487503C>T	(Likely) benign	2 labs	59cb73d453
8:61763076 CHD7 G>A	8	61763076	61763076	G	A	CHD7	c.5429G>A	NM_017780.4	NP_060250.2:p.(Arg1810Gln)	NC_000008.10:g.61763076G>A	VUS	2 labs	59cf5ded95
X:6069207 NLGN4X G>A	X	6069207	6069207	G	A	NLGN4X	c.301C>T	NM_001282145.2	NP_001269074.1:p.(Arg101Ter)	NC_000023.10:g.6069207G>A	(Likely) pathogenic	2 labs	f26e5fbbd3
7:107533705 DLD A>G	7	107533705	107533705	A	G	DLD	c.100A>G	NM_000108.4	NP_000099.2:p.(Thr34Ala)	NC_000007.13:g.107533705A>G	(Likely) benign	2 labs	59d73dcab1
13:32972574 BRCA2 C>T	13	32972574	32972574	C	T	BRCA2	c.9924C>T	NM_000059.3	NP_000050.2:p.(Tyr3308=)	NC_000013.10:g.32972574C>T	(Likely) benign	2 labs	59db9d5915
14:23866254 MYH6 G>A	14	23866254	23866254	G	A	MYH6	c.2086C>T	NM_002471.3	NP_002462.2:p.(Arg696Cys)	NC_000014.8:g.23866254G>A	VUS	2 labs	59dfa49a18
15:31323249 TRPM1 G>A	15	31323249	31323249	G	A	TRPM1	c.3115C>T	NM_001252020.1	NP_001238949.1:p.(Arg1039Ter)	NC_000015.9:g.31323249G>A	(Likely) pathogenic	3 labs	59e15b0fe6
22:21349228 LZTR1 C>T	22	21349228	21349228	C	T	LZTR1	c.1855C>T	NM_006767.4	NP_006758.2:p.(Arg619Cys)	NC_000022.10:g.21349228C>T	VUS	2 labs	f2723ebe99
11:6655115 DCHS1 C>T	11	6655115	6655115	C	T	DCHS1				NC_000011.9:g.6655115C>T	(Likely) benign	2 labs	59e6c3f752
11:117869502 IL10RA C>T	11	117869502	117869502	C	T	IL10RA	c.883C>T	NM_001558.3	NP_001549.2:p.(Pro295Ser)	NC_000011.9:g.117869502C>T	(Likely) benign	2 labs	59ef704754
7:70255639 AUTS2 G>T	7	70255639	70255639	G	T	AUTS2	c.3437G>T	NM_015570.4	NP_056385.1:p.(Gly1146Val)	NC_000007.13:g.70255639G>T	(Likely) benign	2 labs	f2768f81dd
13:32911888 BRCA2 A>G	13	32911888	32911888	A	G	BRCA2	c.3396A>G	NM_000059.4	NP_000050.3:p.(Lys1132=)	NC_000013.10:g.32911888A>G	(Likely) benign	6 labs	f2773b05ee
1:2338015 PEX10 T>C	1	2338015	2338015	T	C	PEX10	c.880A>G	NM_153818.2	NP_722540.1:p.(Thr294Ala)	NC_000001.10:g.2338015T>C	(Likely) benign	2 labs	f277b02ec9
2:63815373 WDPCP G>A	2	63815373	63815373	G	A	WDPCP	c.33C>T	NM_015910.6	NP_056994.3:p.(Ser11=)	NC_000002.11:g.63815373G>A	(Likely) benign	2 labs	59f72939c5
15:85383892 ALPK3 G>A	15	85383892	85383892	G	A	ALPK3	c.1382G>A	NM_020778.5	NP_065829.4:p.(Gly461Asp)	NC_000015.9:g.85383892G>A	(Likely) benign	4 labs	59f22e08f0
15:50901929 TRPM7 TA>T	15	50901929	50901942	TA	T	TRPM7	c.2437-9del	NM_017672.6	NP_060142.3:p.?	NC_000015.9:g.50901942del	(Likely) benign	2 labs	59fd3609f4
5:112177171 APC G>A	5	112177171	112177171	G	A	APC	c.5880G>A	NM_000038.6	NP_000029.2:p.(Pro1960=)	NC_000005.9:g.112177171G>A	(Likely) benign	3 labs	5a0e6d77dd
8:54682194 ATP6V1H T>A	8	54682194	54682194	T	A	ATP6V1H	c.1159A>T	NM_015941.4	NP_057025.2:p.(Asn387Tyr)	NC_000008.10:g.54682194T>A	VUS	2 labs	5a1388883c
1:103364248 COL11A1 C>T	1	103364248	103364248	C	T	COL11A1	c.4222G>A	NM_001854.4	NP_001845.3:p.(Gly1408Ser)	NC_000001.10:g.103364248C>T	VUS	4 labs	f27c37252f
10:75855551 VCL A>G	10	75855551	75855551	A	G	VCL	c.1681A>G	NM_014000.3	NP_054706.1:p.(Arg561Gly)	NC_000010.10:g.75855551A>G	VUS	4 labs	5a14febe10
3:78763664 ROBO1 G>A	3	78763664	78763664	G	A	ROBO1	c.811C>T	NM_133631.3	NP_598334.2:p.(Arg271Ter)	NC_000003.11:g.78763664G>A	(Likely) pathogenic	2 labs	5a1c8cc187
2:166773971 TTC21B G>A	2	166773971	166773971	G	A	TTC21B	c.1695C>T	NM_024753.5	NP_079029.3:p.(Tyr565=)	NC_000002.11:g.166773971G>A	(Likely) benign	2 labs	5a1f160e0d
10:97453212 TCTN3 TCA>T	10	97453212	97453216	TCA	T	TCTN3	c.276_277del	NM_015631.6	NP_056446.4:p.(Cys92Ter)	NC_000010.10:g.97453215_97453216del	(Likely) pathogenic	2 labs	5a24d53261
10:104156028 NFKB2 G>A	10	104156028	104156028	G	A	NFKB2	c.40G>A	NM_001288724.1	NP_001275653.1:p.(Glu14Lys)	NC_000010.10:g.104156028G>A	(Likely) benign	2 labs	5a32b5f9dd
18:11689812 GNAL G>GAGGAGCGCGAGGCGGCCA	18	11689812	11689845	G	GAGGAGCGCGAGGCGGCCA	GNAL	c.266_283dup	NM_182978.4	NP_892023.1:p.(Ala89_Ala94dup)	NC_000018.9:g.11689828_11689845dup	VUS	2 labs	5a38649fc2
6:31931902 SKIC2 GGTGCGTCTGT>G	6	31931902	31931928	GGTGCGTCTGT	G	SKIC2	c.1860+17_1860+26del	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31931919_31931928del	(Likely) benign	2 labs	5a3dc0cf00
3:46008983 FYCO1 G>A	3	46008983	46008983	G	A	FYCO1	c.1843C>T	NM_024513.3	NP_078789.2:p.(Arg615Trp)	NC_000003.11:g.46008983G>A	(Likely) benign	2 labs	5a4bfdc04f
X:135292079 FHL1 C>T	X	135292079	135292079	C	T	FHL1	c.938C>T	NM_001159702.3	NP_001153174.1:p.(Thr313Met)	NC_000023.10:g.135292079C>T	(Likely) benign	5 labs	f280d3e83c
20:43248495 ADA G>A	20	43248495	43248495	G	A	ADA	c.1079-7C>T	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43248495G>A	(Likely) benign	2 labs	5a5687fda6
17:29527461 NF1 C>T	17	29527461	29527461	C	T	NF1	c.910C>T	NM_000267.3	NP_000258.1:p.(Arg304Ter)	NC_000017.10:g.29527461C>T	(Likely) pathogenic	2 labs	5a609c8818
X:70331312 IL2RG T>A	X	70331312	70331312	T	A	IL2RG	c.78A>T	NM_000206.2	NP_000197.1:p.(Thr26=)	NC_000023.10:g.70331312T>A	(Likely) benign	2 labs	5a689edeb4
8:17815082 PCM1 T>G	8	17815082	17815082	T	G	PCM1	c.1838T>G	NM_006197.3	NP_006188.3:p.(Ile613Ser)	NC_000008.10:g.17815082T>G	(Likely) benign	2 labs	5a6b33e415
11:61719294 BEST1 A>C	11	61719294	61719294	A	C	BEST1	c.16A>C	NM_004183.3	NP_004174.1:p.(Thr6Pro)	NC_000011.9:g.61719294A>C	(Likely) pathogenic	2 labs	5a6cdfb6f4
8:48749064 PRKDC G>A	8	48749064	48749064	G	A	PRKDC	c.7786C>T	NM_006904.6	NP_008835.5:p.(Arg2596Cys)	NC_000008.10:g.48749064G>A	VUS	2 labs	5a77d5b8ca
1:22173003 HSPG2 C>T	1	22173003	22173003	C	T	HSPG2	c.8257G>A	NM_001291860.1	NP_001278789.1:p.(Gly2753Arg)	NC_000001.10:g.22173003C>T	VUS	2 labs	5a798cf36f
15:77323530 PSTPIP1 C>T	15	77323530	77323530	C	T	PSTPIP1	c.625C>T	NM_001321136.1	NP_001308065.1:p.(Leu209=)	NC_000015.9:g.77323530C>T	(Likely) benign	2 labs	5a7c0e4013
6:135716008 AHI1 T>C	6	135716008	135716008	T	C	AHI1	c.3015A>G	NM_001134831.1	NP_001128303.1:p.(Ser1005=)	NC_000006.11:g.135716008T>C	(Likely) benign	2 labs	5a7f2800e2
X:53264133 IQSEC2 G>A	X	53264133	53264133	G	A	IQSEC2	c.3735C>T	NM_001111125.2	NP_001104595.1:p.(His1245=)	NC_000023.10:g.53264133G>A	(Likely) benign	2 labs	5a85e8ed6e
X:48549510 WAS A>G	X	48549510	48549510	A	G	WAS	c.1466A>G	NM_000377.3	NP_000368.1:p.(Asp489Gly)	NC_000023.10:g.48549510A>G	VUS	3 labs	5a86d2c8bb
11:47360200 MYBPC3 C>T	11	47360200	47360200	C	T	MYBPC3	c.2179G>A	NM_000256.3	NP_000247.2:p.(Val727Met)	NC_000011.9:g.47360200C>T	VUS	2 labs	5a893bf456
1:94526296 ABCA4 G>A	1	94526296	94526296	G	A	ABCA4	c.1957C>T	NM_000350.2	NP_000341.2:p.(Arg653Cys)	NC_000001.10:g.94526296G>A	(Likely) pathogenic	2 labs	5a8b7ac2b3
8:48802880 PRKDC C>T	8	48802880	48802880	C	T	PRKDC	c.4009G>A	NM_006904.6	NP_008835.5:p.(Val1337Ile)	NC_000008.10:g.48802880C>T	(Likely) benign	2 labs	5a94b5e872
22:29091240 CHEK2 G>C	22	29091240	29091240	G	C	CHEK2	c.1389-10C>G	NM_001005735.2	NP_001005735.1:p.?	NC_000022.10:g.29091240G>C	(Likely) benign	5 labs	5aa2c48874
14:95085642 SERPINA3 C>G	14	95085642	95085642	C	G	SERPINA3	c.754C>G	NM_001085.4	NP_001076.2:p.(Pro252Ala)	NC_000014.8:g.95085642C>G	(Likely) benign	2 labs	5aa5264f0b
5:179260725 SQSTM1 T>C	5	179260725	179260725	T	C	SQSTM1	c.1108T>C	NM_003900.5	NP_003891.1:p.(Ser370Pro)	NC_000005.9:g.179260725T>C	(Likely) benign	2 labs	5a9ba1911a
6:65622463 EYS A>G	6	65622463	65622463	A	G	EYS	c.2555T>C	NM_001142800.2	NP_001136272.1:p.(Leu852Pro)	NC_000006.11:g.65622463A>G	(Likely) benign	3 labs	5aae46ba06
10:73082780 SLC29A3 C>T	10	73082780	73082780	C	T	SLC29A3	c.269C>T	NM_001174098.1	NP_001167569.1:p.(Thr90Ile)	NC_000010.10:g.73082780C>T	(Likely) benign	2 labs	5ab0b297bc
5:176637149 NSD1 G>A	5	176637149	176637149	G	A	NSD1	c.1749G>A	NM_022455.5	NP_071900.2:p.(Glu583=)	NC_000005.9:g.176637149G>A	(Likely) benign	2 labs	5abbc639e4
9:135171259 SETX C>T	9	135171259	135171259	C	T	SETX	c.6106G>A	NM_015046.5	NP_055861.3:p.(Gly2036Arg)	NC_000009.11:g.135171259C>T	(Likely) pathogenic	2 labs	5abdd9707d
17:29679337 NF1 C>T	17	29679337	29679337	C	T	NF1	c.7457C>T	NM_000267.3	NP_000258.1:p.(Thr2486Ile)	NC_000017.10:g.29679337C>T	(Likely) benign	3 labs	5ac35e3de3
1:22965433 C1QA C>T	1	22965433	22965433	C	T	C1QA	c.271C>T	NM_015991.2	NP_057075.1:p.(Leu91Phe)	NC_000001.10:g.22965433C>T	(Likely) benign	2 labs	5ac5ee65c5
10:56423968 PCDH15 A>C	10	56423968	56423968	A	C	PCDH15	c.55T>G	NM_001142771.2	NP_001136243.1:p.(Ser19Ala)	NC_000010.10:g.56423968A>C	(Likely) benign	2 labs	f2b04e0dde
1:150048301 VPS45 T>C	1	150048301	150048301	T	C	VPS45	c.182-10T>C	NM_001279354.1	NP_001266283.1:p.?	NC_000001.10:g.150048301T>C	(Likely) benign	2 labs	5ad9e4c095
10:61967941 ANK3 G>A	10	61967941	61967941	G	A	ANK3	c.1047C>T	NM_020987.5	NP_066267.2:p.(Cys349=)	NC_000010.10:g.61967941G>A	(Likely) benign	2 labs	5acf82c661
3:186954152 MASP1 G>A	3	186954152	186954152	G	A	MASP1	c.1507C>T	NM_139125.3	NP_624302.1:p.(Arg503Cys)	NC_000003.11:g.186954152G>A	VUS	2 labs	5add3a3a21
X:131216397 FRMD7 C>T	X	131216397	131216397	C	T	FRMD7	c.899G>A	NM_194277.3	NP_919253.1:p.(Arg300His)	NC_000023.10:g.131216397C>T	VUS	2 labs	5ae0ede9cb
16:88713533 CYBA T>G	16	88713533	88713533	T	G	CYBA				NC_000016.9:g.88713533T>G	(Likely) benign	2 labs	60ba2286b6
11:108192137 ATM C>A	11	108192137	108192137	C	A	ATM	c.6562C>A	NM_000051.4	NP_000042.3:p.(Leu2188Ile)	NC_000011.9:g.108192137C>A	VUS	3 labs	5aedf676e0
17:79478007 ACTG1 G>A	17	79478007	79478007	G	A	ACTG1	c.930C>T	NM_001199954.2	NP_001186883.1:p.(Ala310=)	NC_000017.10:g.79478007G>A	(Likely) benign	2 labs	5af119915d
X:44922880 KDM6A A>G	X	44922880	44922880	A	G	KDM6A	c.1897A>G	NM_001291415.1	NP_001278344.1:p.(Thr633Ala)	NC_000023.10:g.44922880A>G	(Likely) benign	2 labs	5af22ef2af
2:241722476 KIF1A G>A	2	241722476	241722476	G	A	KIF1A	c.849C>T	NM_001244008.1	NP_001230937.1:p.(Ser283=)	NC_000002.11:g.241722476G>A	(Likely) benign	2 labs	5af2a1cc15
7:147092861 CNTNAP2 G>A	7	147092861	147092861	G	A	CNTNAP2	c.1659G>A	NM_014141.6	NP_054860.1:p.(Ala553=)	NC_000007.13:g.147092861G>A	(Likely) benign	3 labs	5afd5edebf
14:23858272 MYH6 G>T	14	23858272	23858272	G	T	MYH6	c.3979-8C>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858272G>T	(Likely) benign	2 labs	5aff939c61
17:76993389 CANT1 G>A	17	76993389	76993389	G	A	CANT1	c.316C>T	NM_138793.3	NP_620148.1:p.(Arg106Ter)	NC_000017.10:g.76993389G>A	(Likely) pathogenic	2 labs	5b04538fd6
7:56087291 PSPH AC>A	7	56087291	56087293	AC	A	PSPH	c.275+1del	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56087293del	(Likely) benign	2 labs	f2b7dc7439
2:227872812 COL4A4 C>T	2	227872812	227872812	C	T	COL4A4	c.4731G>A	NM_000092.4	NP_000083.3:p.(Ala1577=)	NC_000002.11:g.227872812C>T	(Likely) benign	2 labs	5b0eaabc2b
5:157158453 THG1L G>A	5	157158453	157158453	G	A	THG1L	c.5G>A	NM_017872.5	NP_060342.2:p.(Trp2Ter)	NC_000005.9:g.157158453G>A	VUS	2 labs	5b0f93394d
2:225422417 CUL3 T>G	2	225422417	225422417	T	G	CUL3	c.223A>C	NM_003590.4	NP_003581.1:p.(Thr75Pro)	NC_000002.11:g.225422417T>G	VUS	2 labs	5b1281e678
X:32563447 DMD G>A	X	32563447	32563447	G	A	DMD	c.1628C>T	NM_004010.3	NP_004001.1:p.(Ser543Leu)	NC_000023.10:g.32563447G>A	(Likely) benign	3 labs	5b1537d7a5
9:80863269 CEP78 G>C	9	80863269	80863269	G	C	CEP78	c.955G>C	NM_001098802.3	NP_001092272.1:p.(Glu319Gln)	NC_000009.11:g.80863269G>C	(Likely) benign	3 labs	f2be122bdf
10:75854079 VCL C>T	10	75854079	75854079	C	T	VCL	c.1403C>T	NM_003373.4	NP_003364.1:p.(Thr468Met)	NC_000010.10:g.75854079C>T	VUS	2 labs	5b1b80bd51
2:212578379 ERBB4 T>TA	2	212578379	212578393	T	TA	ERBB4	c.884-7dup	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578393dup	(Likely) benign	3 labs	5b1c2959a1
1:237617852 RYR2 G>A	1	237617852	237617852	G	A	RYR2	c.1454G>A	NM_001035.2	NP_001026.2:p.(Arg485Gln)	NC_000001.10:g.237617852G>A	VUS	3 labs	5b1eeff628
14:77493644 IRF2BPL C>CGCG	14	77493644	77493647	C	CGCG	IRF2BPL	c.491_492insCGC	NM_024496.4	NP_078772.1:p.(Ala164dup)	NC_000014.8:g.77493646_77493647insGGC	(Likely) benign	3 labs	5b1f588f53
21:34003563 SYNJ1 C>T	21	34003563	34003563	C	T	SYNJ1	c.4581G>A	NM_003895.3	NP_003886.3:p.(Glu1527=)	NC_000021.8:g.34003563C>T	(Likely) benign	2 labs	5b233b2d32
2:179457681 TTN A>G	2	179457681	179457681	A	G	TTN	c.59165T>C	NM_001267550.2	NP_001254479.2:p.(Val19722Ala)	NC_000002.11:g.179457681A>G	(Likely) benign	4 labs	5b2208787c
17:78178911 CARD14 C>T	17	78178911	78178911	C	T	CARD14	c.2476C>T	NM_001366385.1	NP_001353314.1:p.(Arg826Trp)	NC_000017.10:g.78178911C>T	(Likely) benign	2 labs	5b32653b43
2:179453756 TTN T>C	2	179453756	179453756	T	C	TTN	c.62696A>G	NM_001267550.1	NP_001254479.1:p.(Tyr20899Cys)	NC_000002.11:g.179453756T>C	VUS	2 labs	5b3a1bc02a
10:26455055 MYO3A C>A	10	26455055	26455055	C	A	MYO3A	c.3059C>A	NM_017433.5	NP_059129.3:p.(Ala1020Asp)	NC_000010.10:g.26455055C>A	VUS	2 labs	5b3a655423
16:23634288 PALB2 AC>A	16	23634288	23634291	AC	A	PALB2	c.2996+1del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23634291del	(Likely) pathogenic	2 labs	5b426d52a5
5:41159312 C6 G>A	5	41159312	41159312	G	A	C6	c.1728C>T	NM_001115131.2	NP_001108603.2:p.(Thr576=)	NC_000005.9:g.41159312G>A	(Likely) benign	2 labs	5b43f249f5
11:2193001 TH C>T	11	2193001	2193001	C	T	TH	c.16G>A	NM_199292.3	NP_954986.2:p.(Ala6Thr)	NC_000011.9:g.2193001C>T	(Likely) benign	2 labs	5b4890b1d2
17:41244614 BRCA1 A>C	17	41244614	41244614	A	C	BRCA1	c.2934T>G	NM_007294.4	NP_009225.1:p.(Tyr978Ter)	NC_000017.10:g.41244614A>C	(Likely) pathogenic	2 labs	f2c1b52138
6:152605183 SYNE1 G>A	6	152605183	152605183	G	A	SYNE1	c.18137C>T	NM_182961.3	NP_892006.3:p.(Thr6046Met)	NC_000006.11:g.152605183G>A	VUS	2 labs	5b520b1021
X:14868629 FANCB C>A	X	14868629	14868629	C	A	FANCB	c.1494G>T	NM_001018113.3	NP_001018123.1:p.(Lys498Asn)	NC_000023.10:g.14868629C>A	(Likely) benign	2 labs	5b577bbd9f
3:49166717 LAMB2 C>T	3	49166717	49166717	C	T	LAMB2	c.1559G>A	NM_002292.3	NP_002283.3:p.(Arg520His)	NC_000003.11:g.49166717C>T	VUS	2 labs	5b5d52531d
2:71825875 DYSF T>C	2	71825875	71825875	T	C	DYSF	c.3753T>C	NM_001130981.1	NP_001124453.1:p.(Tyr1251=)	NC_000002.11:g.71825875T>C	(Likely) benign	2 labs	5b6173ebdb
15:85401454 ALPK3 G>C	15	85401454	85401454	G	C	ALPK3	c.3485G>C	NM_020778.5	NP_065829.4:p.(Gly1162Ala)	NC_000015.9:g.85401454G>C	VUS	2 labs	f2cdbc0966
4:996560 IDUA C>G	4	996560	996560	C	G	IDUA	c.1230C>G	NM_000203.5	NP_000194.2:p.(Thr410=)	NC_000004.11:g.996560C>G	(Likely) benign	4 labs	5b6cce8a45
15:66995671 SMAD6 C>T	15	66995671	66995671	C	T	SMAD6	c.75C>T	NM_005585.4	NP_005576.3:p.(Gly25=)	NC_000015.9:g.66995671C>T	(Likely) benign	2 labs	5b734a0598
11:36614592 RAG2 G>C	11	36614592	36614592	G	C	RAG2	c.1127C>G	NM_001243786.2	NP_001230715.1:p.(Thr376Ser)	NC_000011.9:g.36614592G>C	VUS	2 labs	5b7effab8e
7:73474344 ELN G>A	7	73474344	73474344	G	A	ELN	c.1543G>A	NM_000501.3	NP_000492.2:p.(Val515Met)	NC_000007.13:g.73474344G>A	(Likely) benign	2 labs	5b7fdfd2fd
1:57373737 C8A G>A	1	57373737	57373737	G	A	C8A	c.1331G>A	NM_000562.2	NP_000553.1:p.(Arg444His)	NC_000001.10:g.57373737G>A	VUS	2 labs	5b850103c7
2:9675978 ADAM17 G>C	2	9675978	9675978	G	C	ADAM17	c.435C>G	NM_003183.6	NP_003174.3:p.(Ala145=)	NC_000002.11:g.9675978G>C	(Likely) benign	2 labs	5b892be48d
14:91804825 CCDC88C C>T	14	91804825	91804825	C	T	CCDC88C	c.891+8G>A	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91804825C>T	(Likely) benign	2 labs	5b8e3db193
4:10099386 WDR1 G>A	4	10099386	10099386	G	A	WDR1	c.507C>T	NM_017491.4	NP_059830.1:p.(Asn169=)	NC_000004.11:g.10099386G>A	(Likely) benign	2 labs	5b8f615acd
16:1270127 CACNA1H C>T	16	1270127	1270127	C	T	CACNA1H	c.6195C>T	NM_021098.2	NP_066921.2:p.(Ala2065=)	NC_000016.9:g.1270127C>T	(Likely) benign	2 labs	5b940f8a47
17:5418368 NLRP1 C>T	17	5418368	5418368	C	T	NLRP1	c.4128G>A	NM_033004.4	NP_127497.1:p.(Pro1376=)	NC_000017.10:g.5418368C>T	(Likely) benign	2 labs	5b9b2fbfe9
10:16960697 CUBN T>A	10	16960697	16960697	T	A	CUBN	c.6924A>T	NM_001081.3	NP_001072.2:p.(Ser2308=)	NC_000010.10:g.16960697T>A	(Likely) benign	2 labs	5b9ccfbe8e
17:59560588 TBX4 C>A	17	59560588	59560588	C	A	TBX4	c.1349C>A	NM_018488.3	NP_060958.2:p.(Thr450Asn)	NC_000017.10:g.59560588C>A	VUS	2 labs	5ba3b27c85
17:18077137 MYO15A C>T	17	18077137	18077137	C	T	MYO15A	c.10393C>T	NM_016239.3	NP_057323.3:p.(Arg3465Trp)	NC_000017.10:g.18077137C>T	(Likely) benign	2 labs	5b9e929ca0
22:21351018 LZTR1 C>T	22	21351018	21351018	C	T	LZTR1	c.2253C>T	NM_006767.3	NP_006758.2:p.(Phe751=)	NC_000022.10:g.21351018C>T	(Likely) benign	3 labs	5ba8932503
X:32305804 DMD A>G	X	32305804	32305804	A	G	DMD	c.5763T>C	NM_004010.3	NP_004001.1:p.(Ser1921=)	NC_000023.10:g.32305804A>G	(Likely) benign	2 labs	5bad38d30b
19:4816598 TICAM1 C>A	19	4816598	4816598	C	A	TICAM1	c.1792G>T	NM_182919.4	NP_891549.1:p.(Gly598Trp)	NC_000019.9:g.4816598C>A	VUS	2 labs	5bbf21a837
10:16960683 CUBN T>A	10	16960683	16960683	T	A	CUBN	c.6938A>T	NM_001081.3	NP_001072.2:p.(Tyr2313Phe)	NC_000010.10:g.16960683T>A	(Likely) benign	2 labs	5bbeafadbd
14:53619480 DDHD1 T>TGCCGCCGCCGCCGCCGCC	14	53619480	53619495	T	TGCCGCCGCCGCCGCCGCC	DDHD1	c.336_337insGGCGGCGGCGGCGGCGGC	NM_001160148.1	NP_001153620.1:p.(Gly112_Ser113insGlyGlyGlyGlyGlyGly)	NC_000014.8:g.53619494_53619495insCGCCGCCGCCGCCGCCGC	VUS	2 labs	5bbf2dee32
11:68170942 LRP5 G>A	11	68170942	68170942	G	A	LRP5	c.1585-9G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68170942G>A	(Likely) benign	2 labs	5bbd767f9a
12:103246701 PAH A>G	12	103246701	103246701	A	G	PAH	c.734T>C	NM_000277.3	NP_000268.1:p.(Val245Ala)	NC_000012.11:g.103246701A>G	(Likely) pathogenic	3 labs	5bc80f5279
X:49072919 CACNA1F G>T	X	49072919	49072919	G	T	CACNA1F	c.3192C>A	NM_005183.3	NP_005174.2:p.(Asn1064Lys)	NC_000023.10:g.49072919G>T	VUS	2 labs	5bca35b866
22:41914522 ACO2 G>T	22	41914522	41914522	G	T	ACO2	c.978G>T	NM_001098.2	NP_001089.1:p.(Leu326Phe)	NC_000022.10:g.41914522G>T	VUS	2 labs	5bceb58999
2:145161531 ZEB2 G>A	2	145161531	145161531	G	A	ZEB2	c.759C>T	NM_014795.3	NP_055610.1:p.(Arg253=)	NC_000002.11:g.145161531G>A	(Likely) benign	2 labs	5bd6446002
X:24382373 SUPT20HL1 TTGCTGCTGCTGCTGC>T	X	24382373	24382428	TTGCTGCTGCTGCTGC	T	SUPT20HL1	c.1537_1551del	NM_001136234.3	NP_001129706.3:p.(Ala513_Ala517del)	NC_000023.10:g.24382414_24382428del	VUS	2 labs	5bde554aba
6:51712773 PKHD1 A>C	6	51712773	51712773	A	C	PKHD1	c.7912-5T>G	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51712773A>C	(Likely) benign	3 labs	5be4fd8f9a
8:133919047 TG G>T	8	133919047	133919047	G	T	TG	c.3749G>T	NM_003235.5	NP_003226.4:p.(Arg1250Leu)	NC_000008.10:g.133919047G>T	(Likely) benign	3 labs	5be4c53e02
X:153579392 FLNA G>C	X	153579392	153579392	G	C	FLNA	c.7041C>G	NM_001110556.2	NP_001104026.1:p.(Val2347=)	NC_000023.10:g.153579392G>C	(Likely) benign	2 labs	5be8f4f0f1
2:228173662 COL4A3 T>C	2	228173662	228173662	T	C	COL4A3	c.4510T>C	NM_000091.5	NP_000082.2:p.(Phe1504Leu)	NC_000002.11:g.228173662T>C	VUS	3 labs	f2dfb4e0b8
3:9495416 SETD5 A>G	3	9495416	9495416	A	G	SETD5	c.2053-7A>G	NM_001292043.1	NP_001278972.1:p.?	NC_000003.11:g.9495416A>G	(Likely) pathogenic	2 labs	5bf0cb64be
5:78181612 ARSB G>C	5	78181612	78181612	G	C	ARSB	c.937C>G	NM_000046.4	NP_000037.2:p.(Pro313Ala)	NC_000005.9:g.78181612G>C	(Likely) pathogenic	2 labs	5bf750b830
22:31011755 TCN2 A>C	22	31011755	31011755	A	C	TCN2				NC_000022.10:g.31011755A>C	(Likely) benign	2 labs	5bfe9aa2af
11:640051 DRD4 G>T	11	640051	640051	G	T	DRD4	c.802G>T	NM_000797.3	NP_000788.2:p.(Gly268Cys)	NC_000011.9:g.640051G>T	(Likely) benign	2 labs	5c023d268f
5:1409836 SLC6A3 G>A	5	1409836	1409836	G	A	SLC6A3	c.1398C>T	NM_001044.5	NP_001035.1:p.(Asn466=)	NC_000005.9:g.1409836G>A	(Likely) benign	2 labs	5c054537df
X:39932017 BCOR C>T	X	39932017	39932017	C	T	BCOR	c.2582G>A	NM_017745.6	NP_060215.4:p.(Arg861His)	NC_000023.10:g.39932017C>T	VUS	2 labs	f2ebce43c3
19:42880094 MEGF8 G>A	19	42880094	42880094	G	A	MEGF8	c.7705G>A	NM_001271938.2	NP_001258867.1:p.(Val2569Ile)	NC_000019.9:g.42880094G>A	(Likely) benign	2 labs	5c0f96a5a4
19:10577771 PDE4A C>T	19	10577771	10577771	C	T	PDE4A	c.2135C>T	NM_001111307.2	NP_001104777.1:p.(Thr712Met)	NC_000019.9:g.10577771C>T	VUS	2 labs	5c209ef5c2
11:57582878 CTNND1 C>A	11	57582878	57582878	C	A	CTNND1	c.2714C>A	NM_001085458.2	NP_001078927.1:p.(Ser905Tyr)	NC_000011.9:g.57582878C>A	(Likely) benign	2 labs	5c1cb9caaa
17:7592929 WRAP53 C>T	17	7592929	7592929	C	T	WRAP53	c.552C>T	NM_018081.2	NP_060551.2:p.(Ile184=)	NC_000017.10:g.7592929C>T	(Likely) benign	2 labs	5c2cbbff25
5:89923411 ADGRV1 G>A	5	89923411	89923411	G	A	ADGRV1	c.1056G>A	NM_032119.4	NP_115495.3:p.(Pro352=)	NC_000005.9:g.89923411G>A	(Likely) benign	2 labs	5c2fde31e1
1:216166497 USH2A C>A	1	216166497	216166497	C	A	USH2A	c.6670G>T	NM_206933.2	NP_996816.2:p.(Gly2224Cys)	NC_000001.10:g.216166497C>A	VUS	2 labs	5c34434ac3
7:107545874 DLD C>T	7	107545874	107545874	C	T	DLD	c.507C>T	NM_000108.5	NP_000099.2:p.(Gly169=)	NC_000007.13:g.107545874C>T	(Likely) benign	2 labs	f2ef9e0314
17:76134100 TMC8 G>A	17	76134100	76134100	G	A	TMC8	c.1364G>A	NM_152468.4	NP_689681.2:p.(Arg455Gln)	NC_000017.10:g.76134100G>A	(Likely) benign	2 labs	5c41e1f2fb
17:44248783 KANSL1 G>A	17	44248783	44248783	G	A	KANSL1	c.727C>T	NM_001193466.2	NP_001180395.1:p.(Gln243Ter)	NC_000017.10:g.44248783G>A	VUS	2 labs	f2f2421341
1:237711854 RYR2 T>C	1	237711854	237711854	T	C	RYR2	c.3030T>C	NM_001035.3	NP_001026.2:p.(Asp1010=)	NC_000001.10:g.237711854T>C	(Likely) benign	4 labs	5c4fb96d20
21:46308719 ITGB2 C>T	21	46308719	46308719	C	T	ITGB2	c.1969G>A	NM_000211.3	NP_000202.2:p.(Val657Met)	NC_000021.8:g.46308719C>T	(Likely) benign	2 labs	5c51a09fcb
5:82817012 VCAN C>T	5	82817012	82817012	C	T	VCAN	c.2887C>T	NM_004385.5	NP_004376.2:p.(Pro963Ser)	NC_000005.9:g.82817012C>T	(Likely) benign	2 labs	5c55f91a8d
4:6279355 WFS1 C>T	4	6279355	6279355	C	T	WFS1	c.173C>T	NM_006005.3	NP_005996.2:p.(Ala58Val)	NC_000004.11:g.6279355C>T	VUS	2 labs	5c69def46a
12:8672848 CLEC4D A>G	12	8672848	8672848	A	G	CLEC4D	c.411A>G	NM_080387.5	NP_525126.2:p.(Arg137=)	NC_000012.11:g.8672848A>G	(Likely) benign	2 labs	5c707ef302
22:32162659 DEPDC5 GAT>G	22	32162659	32162661	GAT	G	DEPDC5	c.363+6_363+7del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32162660_32162661del	(Likely) benign	3 labs	5c720c8858
1:227152821 COQ8A G>T	1	227152821	227152821	G	T	COQ8A	c.298G>T	NM_020247.5	NP_064632.2:p.(Asp100Tyr)	NC_000001.10:g.227152821G>T	(Likely) benign	3 labs	5c66b3cbc2
19:36395484 TYROBP G>A	19	36395484	36395484	G	A	TYROBP	c.329C>T	NM_003332.3	NP_003323.1:p.(Pro110Leu)	NC_000019.9:g.36395484G>A	(Likely) benign	2 labs	5c78dc26b7
5:256472 SDHA G>A	5	256472	256472	G	A	SDHA	c.1932G>A	NM_004168.4	NP_004159.2:p.(Val644=)	NC_000005.9:g.256472G>A	(Likely) benign	2 labs	f300354cfb
4:187557782 FAT1 G>A	4	187557782	187557782	G	A	FAT1	c.3929C>T	NM_005245.3	NP_005236.2:p.(Ser1310Leu)	NC_000004.11:g.187557782G>A	(Likely) benign	3 labs	5c803a6c73
9:120476185 TLR4 G>A	9	120476185	120476185	G	A	TLR4	c.1779G>A	NM_138554.5	NP_612564.1:p.(Trp593Ter)	NC_000009.11:g.120476185G>A	VUS	2 labs	5c856decea
20:50406985 SALL4 G>A	20	50406985	50406985	G	A	SALL4	c.2037C>T	NM_020436.5	NP_065169.1:p.(Thr679=)	NC_000020.10:g.50406985G>A	(Likely) benign	3 labs	5c88e0d5ef
1:197112533 ASPM G>A	1	197112533	197112533	G	A	ASPM	c.849C>T	NM_018136.5	NP_060606.3:p.(Ser283=)	NC_000001.10:g.197112533G>A	(Likely) benign	3 labs	5c8aab3082
1:45974622 MMACHC G>C	1	45974622	45974622	G	C	MMACHC	c.584G>C	NM_015506.2	NP_056321.2:p.(Gly195Ala)	NC_000001.10:g.45974622G>C	(Likely) benign	2 labs	5c924ecfed
19:36322601 NPHS1 T>C	19	36322601	36322601	T	C	NPHS1	c.3230A>G	NM_004646.4	NP_004637.1:p.(Asn1077Ser)	NC_000019.9:g.36322601T>C	(Likely) benign	2 labs	f306b30a91
6:152472769 SYNE1 C>T	6	152472769	152472769	C	T	SYNE1	c.24369G>A	NM_182961.3	NP_892006.3:p.(Trp8123Ter)	NC_000006.11:g.152472769C>T	(Likely) pathogenic	2 labs	5c982e1ba2
18:7016588 LAMA1 G>A	18	7016588	7016588	G	A	LAMA1	c.2891C>T	NM_005559.4	NP_005550.2:p.(Thr964Met)	NC_000018.9:g.7016588G>A	VUS	2 labs	5c9f23d48b
1:200587506 KIF14 C>T	1	200587506	200587506	C	T	KIF14	c.346G>A	NM_014875.3	NP_055690.1:p.(Glu116Lys)	NC_000001.10:g.200587506C>T	VUS	2 labs	f30853dd70
X:128679030 OCRL C>G	X	128679030	128679030	C	G	OCRL	c.199+16C>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128679030C>G	(Likely) benign	2 labs	5c99d16863
3:10088404 FANCD2 C>T	3	10088404	10088404	C	T	FANCD2	c.1275C>T	NM_033084.6	NP_149075.2:p.(Tyr425=)	NC_000003.11:g.10088404C>T	(Likely) benign	3 labs	f30902078b
10:85972856 CDHR1 G>A	10	85972856	85972856	G	A	CDHR1	c.1792G>A	NM_033100.4	NP_149091.1:p.(Glu598Lys)	NC_000010.10:g.85972856G>A	(Likely) benign	2 labs	5c994f4217
6:152652599 SYNE1 G>A	6	152652599	152652599	G	A	SYNE1	c.13221C>T	NM_182961.4	NP_892006.3:p.(Asp4407=)	NC_000006.11:g.152652599G>A	(Likely) benign	2 labs	5c9cf08a91
7:35288420 TBX20 C>T	7	35288420	35288420	C	T	TBX20	c.414G>A	NM_001077653.2	NP_001071121.1:p.(Ser138=)	NC_000007.13:g.35288420C>T	(Likely) benign	2 labs	5cb0aeb9a2
5:95759173 PCSK1 A>G	5	95759173	95759173	A	G	PCSK1	c.397-10T>C	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95759173A>G	(Likely) benign	3 labs	5cac2402cd
7:92733609 SAMD9 ATT>A	7	92733609	92733612	ATT	A	SAMD9	c.1800_1801del	NM_017654.4	NP_060124.2:p.(Glu600AspfsTer12)	NC_000007.13:g.92733611_92733612del	VUS	2 labs	5cc7b872a3
20:50407502 SALL4 A>C	20	50407502	50407502	A	C	SALL4	c.1520T>G	NM_020436.5	NP_065169.1:p.(Leu507Arg)	NC_000020.10:g.50407502A>C	(Likely) benign	3 labs	5ccfcf5b04
2:31573087 XDH A>G	2	31573087	31573087	A	G	XDH	c.2634T>C	NM_000379.3	NP_000370.2:p.(Ile878=)	NC_000002.11:g.31573087A>G	(Likely) benign	2 labs	5ccf9f28bc
2:200173684 SATB2 T>G	2	200173684	200173684	T	G	SATB2	c.1543-4A>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200173684T>G	(Likely) benign	2 labs	5cd3b3b31c
3:47163875 SETD2 G>T	3	47163875	47163875	G	T	SETD2	c.2251C>A	NM_014159.6	NP_054878.5:p.(Pro751Thr)	NC_000003.11:g.47163875G>T	(Likely) benign	2 labs	5cd0125e25
3:49158960 LAMB2 T>C	3	49158960	49158960	T	C	LAMB2	c.5166A>G	NM_002292.3	NP_002283.3:p.(Gln1722=)	NC_000003.11:g.49158960T>C	(Likely) benign	2 labs	5ce62001f2
14:88414211 GALC G>A	14	88414211	88414211	G	A	GALC	c.1350C>T	NM_000153.4	NP_000144.2:p.(Ser450=)	NC_000014.8:g.88414211G>A	(Likely) benign	3 labs	5cec2368df
21:43809151 TMPRSS3 TG>T	21	43809151	43809153	TG	T	TMPRSS3	c.208del	NM_001256317.3	NP_001243246.1:p.(His70ThrfsTer19)	NC_000021.8:g.43809153del	(Likely) pathogenic	2 labs	5cebc3639a
17:16852282 TNFRSF13B C>T	17	16852282	16852282	C	T	TNFRSF13B	c.215G>A	NM_012452.3	NP_036584.1:p.(Arg72His)	NC_000017.10:g.16852282C>T	(Likely) benign	5 labs	5cee054e84
14:23885487 MYH7 C>T	14	23885487	23885487	C	T	MYH7	c.4679G>A	NM_000257.4	NP_000248.2:p.(Arg1560Gln)	NC_000014.8:g.23885487C>T	VUS	2 labs	f311f036e2
6:152716752 SYNE1 C>A	6	152716752	152716752	C	A	SYNE1	c.7611G>T	NM_182961.3	NP_892006.3:p.(Arg2537Ser)	NC_000006.11:g.152716752C>A	VUS	2 labs	5cf076df5b
10:27381431 ANKRD26 G>A	10	27381431	27381431	G	A	ANKRD26	c.542C>T	NM_014915.2	NP_055730.2:p.(Thr181Ile)	NC_000010.10:g.27381431G>A	(Likely) benign	3 labs	5cf0b20cb4
2:179595271 TTN C>T	2	179595271	179595271	C	T	TTN	c.17989G>A	NM_001267550.2	NP_001254479.2:p.(Ala5997Thr)	NC_000002.11:g.179595271C>T	(Likely) benign	2 labs	5cf37807e0
2:47693959 MSH2 G>A	2	47693959	47693959	G	A	MSH2	c.1661+12G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693959G>A	(Likely) benign	4 labs	5cf6d64436
1:16374994 CLCNKB C>T	1	16374994	16374994	C	T	CLCNKB	c.577-5C>T	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16374994C>T	(Likely) benign	2 labs	f3133d36d8
1:78392391 NEXN G>A	1	78392391	78392391	G	A	NEXN	c.688-10G>A	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392391G>A	(Likely) benign	2 labs	f3142a0741
1:207497911 CD55 C>T	1	207497911	207497911	C	T	CD55	c.294C>T	NM_000574.5	NP_000565.1:p.(Cys98=)	NC_000001.10:g.207497911C>T	(Likely) benign	3 labs	5cff8b6bdd
1:3322175 PRDM16 G>A	1	3322175	3322175	G	A	PRDM16	c.1149G>A	NM_022114.4	NP_071397.3:p.(Gln383=)	NC_000001.10:g.3322175G>A	(Likely) benign	2 labs	f31d968296
X:153593186 FLNA T>C	X	153593186	153593186	T	C	FLNA	c.1828+3A>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153593186T>C	(Likely) benign	4 labs	5d15d4a9d2
13:32906626 BRCA2 C>T	13	32906626	32906626	C	T	BRCA2	c.1011C>T	NM_000059.3	NP_000050.2:p.(Asn337=)	NC_000013.10:g.32906626C>T	(Likely) benign	3 labs	5d117e33ca
3:4712410 ITPR1 T>C	3	4712410	4712410	T	C	ITPR1	c.1962-3T>C	NM_002222.7	NP_002213.5:p.?	NC_000003.11:g.4712410T>C	(Likely) benign	5 labs	5d1b1eb3cb
8:10467652 RP1L1 G>C	8	10467652	10467652	G	C	RP1L1	c.3956C>G	NM_178857.6	NP_849188.4:p.(Ala1319Gly)	NC_000008.10:g.10467652G>C	(Likely) benign	3 labs	5d1c7e78ad
12:7045891 ATN1 A>ACAGCAGCAGCAGCAGCAGCAGCAG	12	7045891	7045938	A	ACAGCAGCAGCAGCAGCAGCAGCAG	ATN1	c.1485_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln495_Gln502dup)	NC_000012.11:g.7045915_7045938dup	(Likely) benign	2 labs	5d246520ac
X:152772363 BGN G>A	X	152772363	152772363	G	A	BGN	c.752G>A	NM_001711.6	NP_001702.1:p.(Arg251His)	NC_000023.10:g.152772363G>A	VUS	2 labs	5d3347ed04
19:13368344 CACNA1A G>A	19	13368344	13368344	G	A	CACNA1A	c.4422C>T	NM_023035.2	NP_075461.2:p.(Asp1474=)	NC_000019.9:g.13368344G>A	(Likely) benign	2 labs	5d36e1c76a
19:36322580 NPHS1 A>AC	19	36322580	36322587	A	AC	NPHS1	c.3250dup	NM_004646.3	NP_004637.1:p.(Val1084GlyfsTer12)	NC_000019.9:g.36322587dup	(Likely) pathogenic	2 labs	5d39a7a83b
17:40939483 WNK4 C>G	17	40939483	40939483	C	G	WNK4	c.1664C>G	NM_032387.4	NP_115763.2:p.(Pro555Arg)	NC_000017.10:g.40939483C>G	(Likely) benign	2 labs	5d3ba5b714
6:33156764 COL11A2 G>C	6	33156764	33156764	G	C	COL11A2	c.434C>G	NM_080680.3	NP_542411.2:p.(Ala145Gly)	NC_000006.11:g.33156764G>C	VUS	2 labs	5d3cf43a6a
11:125871735 CDON C>T	11	125871735	125871735	C	T	CDON	c.2037G>A	NM_001243597.2	NP_001230526.1:p.(Ala679=)	NC_000011.9:g.125871735C>T	(Likely) benign	2 labs	f31eb33523
11:66290967 BBS1 C>T	11	66290967	66290967	C	T	BBS1	c.871C>T	NM_024649.4	NP_078925.3:p.(Gln291Ter)	NC_000011.9:g.66290967C>T	(Likely) pathogenic	2 labs	5d475ff7de
2:179593462 TTN C>T	2	179593462	179593462	C	T	TTN	c.19191G>A	NM_001267550.2	NP_001254479.2:p.(Thr6397=)	NC_000002.11:g.179593462C>T	(Likely) benign	4 labs	5d488d2b6b
3:169540133 LRRIQ4 C>T	3	169540133	169540133	C	T	LRRIQ4	c.424C>T	NM_001080460.2	NP_001073929.1:p.(His142Tyr)	NC_000003.11:g.169540133C>T	VUS	2 labs	5d4979c723
18:2920288 LPIN2 G>A	18	2920288	2920288	G	A	LPIN2	c.*3C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2920288G>A	(Likely) benign	2 labs	f32032a5e9
14:53619480 DDHD1 T>TGCCGCCGCC	14	53619480	53619494	T	TGCCGCCGCC	DDHD1	c.328_336dup	NM_001160148.2	NP_001153620.1:p.(Gly110_Gly112dup)	NC_000014.8:g.53619486_53619494dup	(Likely) benign	3 labs	5d55178cad
17:56284566 MKS1 C>T	17	56284566	56284566	C	T	MKS1	c.1287G>A	NM_017777.3	NP_060247.2:p.(Leu429=)	NC_000017.10:g.56284566C>T	(Likely) benign	2 labs	5d56cbe30e
19:33878846 PEPD C>T	19	33878846	33878846	C	T	PEPD	c.1294G>A	NM_000285.3	NP_000276.2:p.(Ala432Thr)	NC_000019.9:g.33878846C>T	(Likely) benign	3 labs	5d5c827adf
4:186435435 PDLIM3 C>T	4	186435435	186435435	C	T	PDLIM3	c.387G>A	NM_014476.5	NP_055291.2:p.(Pro129=)	NC_000004.11:g.186435435C>T	(Likely) benign	3 labs	5d5cfc5ed3
7:30634661 GARS1 C>G	7	30634661	30634661	C	G	GARS1	c.124C>G	NM_002047.4	NP_002038.2:p.(Pro42Ala)	NC_000007.13:g.30634661C>G	(Likely) benign	3 labs	f322487e32
12:49443799 KMT2D G>A	12	49443799	49443799	G	A	KMT2D	c.3572C>T	NM_003482.3	NP_003473.3:p.(Pro1191Leu)	NC_000012.11:g.49443799G>A	(Likely) benign	3 labs	5d69445243
20:10622326 JAG1 G>A	20	10622326	10622326	G	A	JAG1	c.2698C>T	NM_000214.3	NP_000205.1:p.(Arg900Ter)	NC_000020.10:g.10622326G>A	(Likely) pathogenic	2 labs	5d714c3849
22:38379670 SOX10 C>A	22	38379670	38379670	C	A	SOX10	c.122G>T	NM_006941.4	NP_008872.1:p.(Gly41Val)	NC_000022.10:g.38379670C>A	(Likely) benign	3 labs	5d71a2a208
15:89872343 POLG TGAG>T	15	89872343	89872358	TGAG	T	POLG	c.856-5_856-3del	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89872356_89872358del	(Likely) benign	3 labs	5d75d3b34e
17:29533329 NF1 TG>T	17	29533329	29533330	TG	T	NF1	c.1333del	NM_001042492.3	NP_001035957.1:p.(Glu445LysfsTer28)	NC_000017.10:g.29533330del	(Likely) pathogenic	2 labs	5d78eaec55
X:7811984 VCX C>T	X	7811984	7811984	C	T	VCX	c.548C>T	NM_013452.2	NP_038480.2:p.(Pro183Leu)	NC_000023.10:g.7811984C>T	(Likely) benign	2 labs	5d81a154cb
12:88457793 CEP290 G>T	12	88457793	88457793	G	T	CEP290	c.6235C>A	NM_025114.3	NP_079390.3:p.(Leu2079Ile)	NC_000012.11:g.88457793G>T	(Likely) benign	2 labs	5d8c4b0720
11:47364433 MYBPC3 GC>G	11	47364433	47364437	GC	G	MYBPC3	c.1404del	NM_000256.3	NP_000247.2:p.(Gln469SerfsTer19)	NC_000011.9:g.47364437del	(Likely) pathogenic	2 labs	5d8d880f91
19:54301491 NLRP12 G>GCT	19	54301491	54301494	G	GCT	NLRP12	c.2927+4_2927+5dup	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54301493_54301494dup	(Likely) benign	2 labs	5d8de660b4
16:27751793 KATNIP T>C	16	27751793	27751793	T	C	KATNIP	c.2175T>C	NM_015202.3	NP_056017.3:p.(Pro725=)	NC_000016.9:g.27751793T>C	(Likely) benign	2 labs	5d8f064042
16:84203939 DNAAF1 C>T	16	84203939	84203939	C	T	DNAAF1	c.1505C>T	NM_178452.6	NP_848547.4:p.(Pro502Leu)	NC_000016.9:g.84203939C>T	(Likely) benign	3 labs	5d934968ea
19:48339595 CRX G>A	19	48339595	48339595	G	A	CRX	c.196G>A	NM_000554.6	NP_000545.1:p.(Val66Ile)	NC_000019.9:g.48339595G>A	(Likely) benign	2 labs	5d92045b2c
19:6496168 TUBB4A G>A	19	6496168	6496168	G	A	TUBB4A	c.342C>T	NM_006087.4	NP_006078.2:p.(Asp114=)	NC_000019.9:g.6496168G>A	(Likely) benign	2 labs	5d9c813589
2:179578821 TTN C>A	2	179578821	179578821	C	A	TTN	c.26564G>T	NM_001267550.1	NP_001254479.1:p.(Gly8855Val)	NC_000002.11:g.179578821C>A	VUS	2 labs	5da20879b8
X:5821156 NLGN4X G>A	X	5821156	5821156	G	A	NLGN4X	c.1563C>T	NM_001282145.2	NP_001269074.1:p.(Ala521=)	NC_000023.10:g.5821156G>A	(Likely) benign	2 labs	5d9c645c5a
19:7122935 INSR G>A	19	7122935	7122935	G	A	INSR	c.3324C>T	NM_000208.3	NP_000199.2:p.(His1108=)	NC_000019.9:g.7122935G>A	(Likely) benign	2 labs	5dab602fc1
X:152954121 SLC6A8 C>T	X	152954121	152954121	C	T	SLC6A8	c.92C>T	NM_005629.3	NP_005620.1:p.(Pro31Leu)	NC_000023.10:g.152954121C>T	(Likely) benign	2 labs	5dae8e0809
3:133191364 BFSP2 A>T	3	133191364	133191364	A	T	BFSP2	c.1199A>T	NM_003571.4	NP_003562.1:p.(Lys400Met)	NC_000003.11:g.133191364A>T	VUS	3 labs	5db7b0b0d6
18:2937684 LPIN2 G>A	18	2937684	2937684	G	A	LPIN2	c.1168+6C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2937684G>A	(Likely) benign	2 labs	5db9376641
11:125769318 HYLS1 C>T	11	125769318	125769318	C	T	HYLS1	c.55C>T	NM_001134793.1	NP_001128265.1:p.(Arg19Ter)	NC_000011.9:g.125769318C>T	VUS	2 labs	5dbab5c0cd
3:132198097 DNAJC13 G>A	3	132198097	132198097	G	A	DNAJC13	c.2751G>A	NM_001329126.1	NP_001316055.1:p.(Arg917=)	NC_000003.11:g.132198097G>A	(Likely) benign	2 labs	5dc22da770
1:5964854 NPHP4 C>T	1	5964854	5964854	C	T	NPHP4	c.1966G>A	NM_015102.5	NP_055917.1:p.(Asp656Asn)	NC_000001.10:g.5964854C>T	(Likely) benign	2 labs	5dc84e0833
21:47841933 PCNT T>C	21	47841933	47841933	T	C	PCNT	c.7074T>C	NM_006031.5	NP_006022.3:p.(Pro2358=)	NC_000021.8:g.47841933T>C	(Likely) benign	2 labs	5dd04b2280
17:29665755 NF1 T>TA	17	29665755	29665756	T	TA	NF1	c.6791dup	NM_000267.3	NP_000258.1:p.(Tyr2264Ter)	NC_000017.10:g.29665756dup	(Likely) pathogenic	2 labs	5dd18f5c32
17:17701298 RAI1 C>T	17	17701298	17701298	C	T	RAI1	c.5036C>T	NM_030665.4	NP_109590.3:p.(Ala1679Val)	NC_000017.10:g.17701298C>T	(Likely) benign	3 labs	5dd431bd78
16:1657140 IFT140 A>G	16	1657140	1657140	A	G	IFT140	c.128T>C	NM_014714.4	NP_055529.2:p.(Val43Ala)	NC_000016.9:g.1657140A>G	VUS	2 labs	6223b9717f
7:21621631 DNAH11 G>A	7	21621631	21621631	G	A	DNAH11				NC_000007.13:g.21621631G>A	(Likely) benign	2 labs	5de8d3c1b5
8:90967711 NBN A>G	8	90967711	90967711	A	G	NBN	c.1197T>C	NM_002485.5	NP_002476.2:p.(Asp399=)	NC_000008.10:g.90967711A>G	(Likely) benign	3 labs	5df3335a2b
13:35734141 NBEA G>A	13	35734141	35734141	G	A	NBEA	c.3833G>A	NM_015678.5	NP_056493.3:p.(Arg1278Gln)	NC_000013.10:g.35734141G>A	(Likely) benign	3 labs	5df764d30e
7:91630968 AKAP9 T>G	7	91630968	91630968	T	G	AKAP9	c.1737T>G	NM_005751.4	NP_005742.4:p.(Ser579=)	NC_000007.13:g.91630968T>G	(Likely) benign	2 labs	5dee2f7a0c
16:49670211 ZNF423 G>A	16	49670211	49670211	G	A	ZNF423	c.2672C>T	NM_001271620.2	NP_001258549.1:p.(Thr891Met)	NC_000016.9:g.49670211G>A	VUS	2 labs	5e11bbb3a9
15:23889233 MAGEL2 C>T	15	23889233	23889233	C	T	MAGEL2	c.3657G>A	NM_019066.5	NP_061939.3:p.(Ala1219=)	NC_000015.9:g.23889233C>T	(Likely) benign	2 labs	5e0c36f601
X:149680355 MAMLD1 C>T	X	149680355	149680355	C	T	MAMLD1	c.2009C>T	NM_001177465.3	NP_001170936.1:p.(Thr670Ile)	NC_000023.10:g.149680355C>T	(Likely) benign	2 labs	5e204b6fcc
3:128628896 ACAD9 G>C	3	128628896	128628896	G	C	ACAD9	c.1596G>C	NM_014049.4	NP_054768.2:p.(Arg532=)	NC_000003.11:g.128628896G>C	(Likely) benign	2 labs	5e2112da53
17:29684006 NF1 G>C	17	29684006	29684006	G	C	NF1	c.7767G>C	NM_001042492.2	NP_001035957.1:p.(Gln2589His)	NC_000017.10:g.29684006G>C	VUS	2 labs	5e2116543b
4:88535826 DSPP G>A	4	88535826	88535826	G	A	DSPP	c.2012G>A	NM_014208.3	NP_055023.2:p.(Ser671Asn)	NC_000004.11:g.88535826G>A	(Likely) benign	2 labs	5e2fa84ee1
5:176636882 NSD1 C>T	5	176636882	176636882	C	T	NSD1	c.1482C>T	NM_022455.5	NP_071900.2:p.(Cys494=)	NC_000005.9:g.176636882C>T	(Likely) benign	3 labs	5e3c174f1b
15:99472846 IGF1R G>A	15	99472846	99472846	G	A	IGF1R	c.2842G>A	NM_000875.4	NP_000866.1:p.(Val948Met)	NC_000015.9:g.99472846G>A	VUS	2 labs	5e3bef758b
16:15808946 MYH11 G>A	16	15808946	15808946	G	A	MYH11	c.5635-8C>T	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15808946G>A	(Likely) benign	2 labs	5e4a1b3337
12:6457937 SCNN1A TGAA>T	12	6457937	6457945	TGAA	T	SCNN1A	c.1582_1584del	NM_001038.6	NP_001029.1:p.(Phe528del)	NC_000012.11:g.6457943_6457945del	(Likely) pathogenic	2 labs	f33aa229fa
2:48032740 MSH6 AT>A	2	48032740	48032753	AT	A	MSH6	c.3557-4del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032753del	(Likely) benign	2 labs	f33af858ab
17:29559143 NF1 C>T	17	29559143	29559143	C	T	NF1	c.3250C>T	NM_000267.3	NP_000258.1:p.(Pro1084Ser)	NC_000017.10:g.29559143C>T	(Likely) pathogenic	2 labs	5e54389b02
11:47353498 MYBPC3 G>A	11	47353498	47353498	G	A	MYBPC3	c.3815-66C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353498G>A	(Likely) benign	2 labs	5e5812527b
17:61483598 TANC2 C>T	17	61483598	61483598	C	T	TANC2	c.3327C>T	NM_025185.4	NP_079461.2:p.(Ser1109=)	NC_000017.10:g.61483598C>T	(Likely) benign	2 labs	5e586a178c
22:38565209 PLA2G6 G>A	22	38565209	38565209	G	A	PLA2G6	c.209+16C>T	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38565209G>A	(Likely) benign	2 labs	5e575a8f7d
4:6303575 WFS1 C>T	4	6303575	6303575	C	T	WFS1	c.2053C>T	NM_006005.3	NP_005996.2:p.(Arg685Cys)	NC_000004.11:g.6303575C>T	VUS	2 labs	5e60891ebb
16:88783112 PIEZO1 T>C	16	88783112	88783112	T	C	PIEZO1	c.6781A>G	NM_001142864.4	NP_001136336.2:p.(Ser2261Gly)	NC_000016.9:g.88783112T>C	(Likely) benign	2 labs	5e62db6098
3:9971758 IL17RC A>G	3	9971758	9971758	A	G	IL17RC	c.1416A>G	NM_153461.3	NP_703191.1:p.(Arg472=)	NC_000003.11:g.9971758A>G	(Likely) benign	2 labs	5e6439ebc3
2:179593296 TTN C>T	2	179593296	179593296	C	T	TTN	c.19357G>A	NM_001267550.1	NP_001254479.1:p.(Gly6453Ser)	NC_000002.11:g.179593296C>T	VUS	3 labs	5e6bc815f3
2:219505465 ZNF142 G>A	2	219505465	219505465	G	A	ZNF142	c.4516C>T	NM_001105537.4	NP_001099007.1:p.(Arg1506Trp)	NC_000002.11:g.219505465G>A	(Likely) benign	3 labs	f342e2652a
2:179563643 TTN T>TAAAAAAAAAA	2	179563643	179563658	T	TAAAAAAAAAA	TTN	c.30683-12_30683-3dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179563649_179563658dup	(Likely) benign	2 labs	5e74eb9807
11:63978759 FERMT3 C>T	11	63978759	63978759	C	T	FERMT3	c.527C>T	NM_178443.2	NP_848537.1:p.(Ala176Val)	NC_000011.9:g.63978759C>T	(Likely) benign	2 labs	5e7535853f
1:161192845 APOA2 C>CCACA	1	161192845	161192884	C	CCACA	APOA2	c.53-9_53-6dup	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192881_161192884dup	(Likely) benign	3 labs	5e840a5f96
5:37176091 CPLANE1 A>G	5	37176091	37176091	A	G	CPLANE1	c.5901-3T>C	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37176091A>G	(Likely) benign	2 labs	5e8dda742d
19:45856383 ERCC2 G>A	19	45856383	45856383	G	A	ERCC2	c.1789C>T	NM_000400.3	NP_000391.1:p.(Leu597=)	NC_000019.9:g.45856383G>A	(Likely) benign	2 labs	5e89e3fd2c
20:43254263 ADA C>T	20	43254263	43254263	C	T	ADA	c.425G>A	NM_000022.2	NP_000013.2:p.(Arg142Gln)	NC_000020.10:g.43254263C>T	(Likely) benign	2 labs	5e8bb0ff4a
X:48664812 HDAC6 A>C	X	48664812	48664812	A	C	HDAC6	c.475A>C	NM_001321226.1	NP_001308155.1:p.(Met159Leu)	NC_000023.10:g.48664812A>C	(Likely) benign	2 labs	5e920b549c
2:179473365 TTN A>G	2	179473365	179473365	A	G	TTN	c.52373T>C	NM_001267550.2	NP_001254479.2:p.(Val17458Ala)	NC_000002.11:g.179473365A>G	VUS	2 labs	5e9e541661
X:153363073 MECP2 T>TCGC	X	153363073	153363077	T	TCGC	MECP2	c.47_49dup	NM_001110792.2	NP_001104262.1:p.(Gly16dup)	NC_000023.10:g.153363075_153363077dup	VUS	2 labs	5ea4d44957
X:154754227 TMLHE G>A	X	154754227	154754227	G	A	TMLHE	c.248C>T	NM_018196.4	NP_060666.1:p.(Ala83Val)	NC_000023.10:g.154754227G>A	(Likely) benign	2 labs	5eac70accb
X:99919864 SRPX2 C>T	X	99919864	99919864	C	T	SRPX2	c.449C>T	NM_014467.2	NP_055282.1:p.(Ser150Phe)	NC_000023.10:g.99919864C>T	(Likely) benign	2 labs	5eb86a4935
1:170521376 GORAB G>A	1	170521376	170521376	G	A	GORAB	c.883G>A	NM_152281.3	NP_689494.3:p.(Glu295Lys)	NC_000001.10:g.170521376G>A	(Likely) benign	2 labs	f34ddb8864
2:179632870 TTN T>A	2	179632870	179632870	T	A	TTN	c.9176A>T	NM_001267550.2	NP_001254479.2:p.(Glu3059Val)	NC_000002.11:g.179632870T>A	VUS	2 labs	f34eaf8a9b
2:179430328 TTN CT>C	2	179430328	179430329	CT	C	TTN	c.80530del	NM_001267550.2	NP_001254479.2:p.(Ser26844ValfsTer29)	NC_000002.11:g.179430329del	(Likely) pathogenic	2 labs	f3512fda68
6:152651759 SYNE1 C>G	6	152651759	152651759	C	G	SYNE1	c.14061G>C	NM_182961.4	NP_892006.3:p.(Leu4687=)	NC_000006.11:g.152651759C>G	(Likely) benign	2 labs	5ec16f32f5
3:48604627 COL7A1 G>A	3	48604627	48604627	G	A	COL7A1	c.8047-4C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48604627G>A	(Likely) benign	2 labs	5ed38f6dff
2:86292415 POLR1A C>T	2	86292415	86292415	C	T	POLR1A	c.2040G>A	NM_015425.5	NP_056240.2:p.(Pro680=)	NC_000002.11:g.86292415C>T	(Likely) benign	2 labs	5ed28b72a4
8:100866185 VPS13B A>G	8	100866185	100866185	A	G	VPS13B	c.10643A>G	NM_017890.5	NP_060360.3:p.(Tyr3548Cys)	NC_000008.10:g.100866185A>G	VUS	3 labs	5ed66d93aa
20:57598808 TUBB1 G>A	20	57598808	57598808	G	A	TUBB1	c.326G>A	NM_030773.4	NP_110400.1:p.(Gly109Glu)	NC_000020.10:g.57598808G>A	(Likely) benign	3 labs	5eda4154b9
X:153692842 PLXNA3 G>C	X	153692842	153692842	G	C	PLXNA3	c.1926G>C	NM_017514.4	NP_059984.3:p.(Gln642His)	NC_000023.10:g.153692842G>C	(Likely) benign	2 labs	5ee1c32a04
X:591752 SHOX G>A	X	591752	591752	G	A	SHOX	c.120G>A	NM_000451.3	NP_000442.1:p.(Glu40=)	NC_000023.10:g.591752G>A	(Likely) benign	2 labs	5ee254932e
16:89347289 ANKRD11 T>C	16	89347289	89347289	T	C	ANKRD11	c.5661A>G	NM_001256182.2	NP_001243111.1:p.(Gln1887=)	NC_000016.9:g.89347289T>C	(Likely) benign	2 labs	5ee38df0c0
17:78184885 SGSH C>T	17	78184885	78184885	C	T	SGSH	c.1051G>A	NM_001352921.1	NP_001339850.1:p.(Val351Ile)	NC_000017.10:g.78184885C>T	VUS	2 labs	5eefe11535
7:128829039 SMO G>GGCTGCT	7	128829039	128829061	G	GGCTGCT	SMO	c.64_69dup	NM_005631.5	NP_005622.1:p.(Leu22_Leu23dup)	NC_000007.13:g.128829056_128829061dup	VUS	2 labs	f353e475b2
17:39928051 JUP G>A	17	39928051	39928051	G	A	JUP	c.56C>T	NM_002230.4	NP_002221.1:p.(Thr19Ile)	NC_000017.10:g.39928051G>A	VUS	3 labs	f353edfd3f
1:43890864 SZT2 C>T	1	43890864	43890864	C	T	SZT2	c.2631C>T	NM_001365999.1	NP_001352928.1:p.(Thr877=)	NC_000001.10:g.43890864C>T	(Likely) benign	2 labs	5ef4467656
X:39933339 BCOR A>G	X	39933339	39933339	A	G	BCOR	c.1260T>C	NM_001123385.2	NP_001116857.1:p.(Asp420=)	NC_000023.10:g.39933339A>G	(Likely) benign	3 labs	f35e19833a
11:68133035 LRP5 T>C	11	68133035	68133035	T	C	LRP5	c.884-4T>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68133035T>C	(Likely) benign	3 labs	5efb5eb934
21:27264121 APP G>A	21	27264121	27264121	G	A	APP	c.2124C>T	NM_000484.4	NP_000475.1:p.(Gly708=)	NC_000021.8:g.27264121G>A	(Likely) benign	3 labs	5efd6dba38
17:41243512 BRCA1 CT>C	17	41243512	41243514	CT	C	BRCA1	c.4035del	NM_007294.4	NP_009225.1:p.(Glu1346LysfsTer20)	NC_000017.10:g.41243514del	(Likely) pathogenic	3 labs	f35e44e633
10:43609076 RET G>A	10	43609076	43609076	G	A	RET	c.1832G>A	NM_020975.4	NP_066124.1:p.(Cys611Tyr)	NC_000010.10:g.43609076G>A	(Likely) pathogenic	3 labs	5f02a1c44d
4:79461959 FRAS1 G>T	4	79461959	79461959	G	T	FRAS1	c.11720G>T	NM_025074.7	NP_079350.5:p.(Gly3907Val)	NC_000004.11:g.79461959G>T	(Likely) benign	2 labs	5f14106b38
22:33673125 LARGE1 C>T	22	33673125	33673125	C	T	LARGE1	c.1994G>A	NM_004737.5	NP_004728.1:p.(Arg665His)	NC_000022.10:g.33673125C>T	(Likely) benign	3 labs	5f1c37f050
13:32914209 BRCA2 ACT>A	13	32914209	32914215	ACT	A	BRCA2	c.5722_5723del	NM_000059.4	NP_000050.3:p.(Leu1908ArgfsTer2)	NC_000013.10:g.32914214_32914215del	(Likely) pathogenic	3 labs	f3689ac902
4:186446257 PDLIM3 G>A	4	186446257	186446257	G	A	PDLIM3	c.162C>T	NM_014476.5	NP_055291.2:p.(Gly54=)	NC_000004.11:g.186446257G>A	(Likely) benign	3 labs	5f25f248c8
X:5821551 NLGN4X C>T	X	5821551	5821551	C	T	NLGN4X	c.1168G>A	NM_020742.4	NP_065793.1:p.(Val390Met)	NC_000023.10:g.5821551C>T	VUS	2 labs	5f2682cfea
X:32459424 DMD C>G	X	32459424	32459424	C	G	DMD	c.3425G>C	NM_004010.3	NP_004001.1:p.(Trp1142Ser)	NC_000023.10:g.32459424C>G	(Likely) benign	2 labs	5f286fd96c
10:95079636 MYOF G>A	10	95079636	95079636	G	A	MYOF	c.5591C>T	NM_013451.4	NP_038479.1:p.(Ala1864Val)	NC_000010.10:g.95079636G>A	(Likely) benign	2 labs	f3693e5032
1:215821933 USH2A A>G	1	215821933	215821933	A	G	USH2A	c.14519T>C	NM_206933.3	NP_996816.2:p.(Leu4840Pro)	NC_000001.10:g.215821933A>G	VUS	3 labs	5f35d5f398
5:37170341 CPLANE1 C>G	5	37170341	37170341	C	G	CPLANE1	c.6264G>C	NM_023073.3	NP_075561.3:p.(Gln2088His)	NC_000005.9:g.37170341C>G	VUS	2 labs	5f3ccf35a4
19:7623887 PNPLA6 T>C	19	7623887	7623887	T	C	PNPLA6	c.3579T>C	NM_001166111.2	NP_001159583.1:p.(Val1193=)	NC_000019.9:g.7623887T>C	(Likely) benign	2 labs	5f3cd1b888
16:51174229 SALL1 G>A	16	51174229	51174229	G	A	SALL1	c.1613C>T	NM_001127892.1	NP_001121364.1:p.(Pro538Leu)	NC_000016.9:g.51174229G>A	(Likely) benign	2 labs	5f48c21959
2:232137693 ARMC9 A>G	2	232137693	232137693	A	G	ARMC9	c.1236A>G	NM_001291656.1	NP_001278585.1:p.(Thr412=)	NC_000002.11:g.232137693A>G	(Likely) benign	2 labs	5f4a556591
15:84909416 GOLGA6L4 A>G	15	84909416	84909416	A	G	GOLGA6L4	c.1310A>G	NM_001267536.2	NP_001254465.2:p.(Gln437Arg)	NC_000015.9:g.84909416A>G	(Likely) benign	2 labs	5f4c1b7fc0
3:193332549 OPA1 A>G	3	193332549	193332549	A	G	OPA1	c.70A>G	NM_130837.3	NP_570850.2:p.(Ile24Val)	NC_000003.11:g.193332549A>G	(Likely) benign	4 labs	5f4d5e468b
10:112362357 SMC3 T>A	10	112362357	112362357	T	A	SMC3	c.3231T>A	NM_005445.4	NP_005436.1:p.(Ser1077Arg)	NC_000010.10:g.112362357T>A	VUS	2 labs	f3720e23e3
2:189864582 COL3A1 T>C	2	189864582	189864582	T	C	COL3A1	c.2244T>C	NM_000090.4	NP_000081.2:p.(Gly748=)	NC_000002.11:g.189864582T>C	(Likely) benign	2 labs	5f55f0af4c
4:123664919 BBS12 A>G	4	123664919	123664919	A	G	BBS12	c.1872A>G	NM_001178007.2	NP_001171478.1:p.(Gln624=)	NC_000004.11:g.123664919A>G	(Likely) benign	3 labs	5f56347a23
2:145157478 ZEB2 A>T	2	145157478	145157478	A	T	ZEB2	c.1276T>A	NM_014795.3	NP_055610.1:p.(Leu426Ile)	NC_000002.11:g.145157478A>T	(Likely) benign	2 labs	5f56a581ba
17:41244526 BRCA1 T>C	17	41244526	41244526	T	C	BRCA1	c.3022A>G	NM_007294.4	NP_009225.1:p.(Met1008Val)	NC_000017.10:g.41244526T>C	(Likely) benign	4 labs	5f565971ac
12:33030919 PKP2 G>A	12	33030919	33030919	G	A	PKP2	c.895C>T	NM_004572.4	NP_004563.2:p.(Arg299Cys)	NC_000012.11:g.33030919G>A	VUS	3 labs	5f5873c87e
7:21856224 DNAH11 G>A	7	21856224	21856224	G	A	DNAH11				NC_000007.13:g.21856224G>A	VUS	2 labs	5f655044f6
15:52699603 MYO5A T>C	15	52699603	52699603	T	C	MYO5A	c.839-7A>G	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52699603T>C	(Likely) benign	2 labs	5f6190f109
11:6638385 TPP1 C>G	11	6638385	6638385	C	G	TPP1	c.509-1G>C	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6638385C>G	(Likely) pathogenic	6 labs	f37565fb64
8:77896324 PEX2 G>C	8	77896324	77896324	G	C	PEX2	c.91C>G	NM_001172086.2	NP_001165557.2:p.(Gln31Glu)	NC_000008.10:g.77896324G>C	(Likely) benign	2 labs	5f6c1be471
6:70926629 COL9A1 G>A	6	70926629	70926629	G	A	COL9A1	c.2737C>T	NM_001851.4	NP_001842.3:p.(Arg913Ter)	NC_000006.11:g.70926629G>A	VUS	2 labs	5f8c568426
11:73753106 C2CD3 A>G	11	73753106	73753106	A	G	C2CD3	c.5653T>C	NM_001286577.2	NP_001273506.1:p.(Ser1885Pro)	NC_000011.9:g.73753106A>G	(Likely) benign	2 labs	5f8e88debb
7:100285473 GIGYF1 C>T	7	100285473	100285473	C	T	GIGYF1	c.199G>A	NM_001375765.1	NP_001362694.1:p.(Ala67Thr)	NC_000007.13:g.100285473C>T	VUS	2 labs	f378e00619
1:160098515 ATP1A2 C>T	1	160098515	160098515	C	T	ATP1A2				NC_000001.10:g.160098515C>T	VUS	2 labs	5f921c534e
11:6631369 ILK A>C	11	6631369	6631369	A	C	ILK	c.1079-10A>C	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6631369A>C	(Likely) benign	2 labs	5f931e5a90
11:111708331 ALG9 G>A	11	111708331	111708331	G	A	ALG9	c.1311C>T	NM_001077690.1	NP_001071158.1:p.(His437=)	NC_000011.9:g.111708331G>A	(Likely) benign	2 labs	5f94f902ae
3:165548386 BCHE A>AC	3	165548386	165548387	A	AC	BCHE	c.435_436insG	NM_000055.3	NP_000046.1:p.(Phe146ValfsTer12)	NC_000003.11:g.165548386_165548387insC	(Likely) pathogenic	2 labs	5f96c26c08
18:7050910 LAMA1 A>G	18	7050910	7050910	A	G	LAMA1	c.371T>C	NM_005559.4	NP_005550.2:p.(Ile124Thr)	NC_000018.9:g.7050910A>G	VUS	3 labs	5f9d085fcd
1:12026373 PLOD1 G>A	1	12026373	12026373	G	A	PLOD1	c.1650G>A	NM_000302.3	NP_000293.2:p.(Thr550=)	NC_000001.10:g.12026373G>A	VUS	3 labs	5fae308b73
17:29670115 NF1 CTAACTT>C	17	29670115	29670128	CTAACTT	C	NF1	c.7159_7164del	NM_001042492.3	NP_001035957.1:p.(Asn2387_Phe2388del)	NC_000017.10:g.29670123_29670128del	(Likely) pathogenic	2 labs	5fb3680509
X:153416316 OPN1LW G>C	X	153416316	153416316	G	C	OPN1LW	c.301G>C	NM_020061.5	NP_064445.2:p.(Ala101Pro)	NC_000023.10:g.153416316G>C	VUS	2 labs	5fb9b73763
19:39994711 DLL3 T>C	19	39994711	39994711	T	C	DLL3	c.653T>C	NM_016941.4	NP_058637.1:p.(Leu218Pro)	NC_000019.9:g.39994711T>C	(Likely) benign	3 labs	f37d8ac4ce
19:30936560 ZNF536 G>C	19	30936560	30936560	G	C	ZNF536	c.2091G>C	NM_014717.3	NP_055532.1:p.(Glu697Asp)	NC_000019.9:g.30936560G>C	VUS	2 labs	5fc1455e7b
4:5758054 EVC G>A	4	5758054	5758054	G	A	EVC	c.1528G>A	NM_153717.2	NP_714928.1:p.(Val510Ile)	NC_000004.11:g.5758054G>A	(Likely) benign	3 labs	5fc5500b09
12:49433379 KMT2D G>A	12	49433379	49433379	G	A	KMT2D	c.8068C>T	NM_003482.3	NP_003473.3:p.(Leu2690=)	NC_000012.11:g.49433379G>A	(Likely) benign	2 labs	5fc751e5bd
16:30734963 SRCAP C>A	16	30734963	30734963	C	A	SRCAP	c.4218C>A	NM_006662.3	NP_006653.2:p.(Ser1406=)	NC_000016.9:g.30734963C>A	(Likely) benign	2 labs	f3856c6a52
19:39406264 SARS2 G>GCCAGGCAGC	19	39406264	39406279	G	GCCAGGCAGC	SARS2	c.1536_1544dup	NM_001145901.1	NP_001139373.1:p.(Leu513_Gly515dup)	NC_000019.9:g.39406271_39406279dup	(Likely) benign	2 labs	5fcb968206
3:148897433 CP G>A	3	148897433	148897433	G	A	CP	c.2571C>T	NM_000096.4	NP_000087.2:p.(Tyr857=)	NC_000003.11:g.148897433G>A	(Likely) benign	3 labs	5fcb9883d6
2:15615910 NBAS A>G	2	15615910	15615910	A	G	NBAS	c.1242T>C	NM_015909.4	NP_056993.2:p.(Ser414=)	NC_000002.11:g.15615910A>G	(Likely) benign	2 labs	f38a0aff67
13:23915435 SACS T>C	13	23915435	23915435	T	C	SACS	c.2580A>G	NM_014363.5	NP_055178.3:p.(Gln860=)	NC_000013.10:g.23915435T>C	(Likely) benign	2 labs	5fe75947c4
2:20130154 WDR35 C>T	2	20130154	20130154	C	T	WDR35	c.3154+3G>A	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20130154C>T	(Likely) benign	3 labs	5fe8a1ccd1
2:32476455 NLRC4 C>T	2	32476455	32476455	C	T	NLRC4	c.478G>A	NM_021209.4	NP_067032.3:p.(Ala160Thr)	NC_000002.11:g.32476455C>T	(Likely) benign	2 labs	5ff3a89b3d
12:25368462 KRAS C>T	12	25368462	25368462	C	T	KRAS	c.483=	NM_033360.4	NP_203524.1:p.(Arg161=)	NC_000012.11:g.25368462C>T	(Likely) benign	2 labs	f38ee41c68
14:23886103 MYH7 G>A	14	23886103	23886103	G	A	MYH7	c.4618C>T	NM_000257.4	NP_000248.2:p.(Leu1540=)	NC_000014.8:g.23886103G>A	(Likely) benign	3 labs	5ffbb6da98
11:22242647 ANO5 A>G	11	22242647	22242647	A	G	ANO5	c.185A>G	NM_213599.2	NP_998764.1:p.(Gln62Arg)	NC_000011.9:g.22242647A>G	(Likely) benign	2 labs	5ffcb3763e
1:197396745 CRB1 C>T	1	197396745	197396745	C	T	CRB1	c.2083C>T	NM_001257965.1	NP_001244894.1:p.(Arg695Cys)	NC_000001.10:g.197396745C>T	(Likely) pathogenic	2 labs	5fff20836b
6:162864410 PRKN CCT>C	6	162864410	162864412	CCT	C	PRKN	c.101_102del	NM_004562.3	NP_004553.2:p.(Gln34ArgfsTer5)	NC_000006.11:g.162864411_162864412del	(Likely) pathogenic	3 labs	60072494ee
16:58052907 USB1 G>A	16	58052907	58052907	G	A	USB1	c.641G>A	NM_024598.4	NP_078874.2:p.(Cys214Tyr)	NC_000016.9:g.58052907G>A	VUS	2 labs	600cc501c3
3:181430982 SOX2 C>T	3	181430982	181430982	C	T	SOX2	c.834C>T	NM_003106.4	NP_003097.1:p.(Leu278=)	NC_000003.11:g.181430982C>T	(Likely) benign	2 labs	600834b55d
2:179453880 TTN T>C	2	179453880	179453880	T	C	TTN	c.62572A>G	NM_001267550.2	NP_001254479.2:p.(Thr20858Ala)	NC_000002.11:g.179453880T>C	(Likely) benign	6 labs	f3960df37b
6:129498852 LAMA2 T>G	6	129498852	129498852	T	G	LAMA2	c.1308T>G	NM_000426.4	NP_000417.3:p.(Gly436=)	NC_000006.11:g.129498852T>G	(Likely) benign	4 labs	6023832e81
2:179471729 TTN A>G	2	179471729	179471729	A	G	TTN	c.53581+19T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179471729A>G	(Likely) benign	3 labs	f39ac7c531
12:53343231 KRT18 G>C	12	53343231	53343231	G	C	KRT18	c.274G>C	NM_000224.3	NP_000215.1:p.(Ala92Pro)	NC_000012.11:g.53343231G>C	(Likely) benign	2 labs	f39b04432b
9:12694135 TYRP1 CCT>C	9	12694135	12694137	CCT	C	TYRP1	c.140_141del	NM_000550.3	NP_000541.1:p.(Pro47ArgfsTer19)	NC_000009.11:g.12694136_12694137del	(Likely) pathogenic	3 labs	601b7a2c6a
3:75986663 ROBO2 C>A	3	75986663	75986663	C	A	ROBO2	c.19C>A	NM_001128929.3	NP_001122401.1:p.(Arg7Ser)	NC_000003.11:g.75986663C>A	(Likely) benign	2 labs	f39d7e16dd
X:18627008 CDKL5 C>G	X	18627008	18627008	C	G	CDKL5	c.2022C>G	NM_001323289.1	NP_001310218.1:p.(Ser674=)	NC_000023.10:g.18627008C>G	(Likely) benign	2 labs	60300024c8
17:5462213 NLRP1 G>A	17	5462213	5462213	G	A	NLRP1	c.1803C>T	NM_033004.4	NP_127497.1:p.(Ile601=)	NC_000017.10:g.5462213G>A	(Likely) benign	2 labs	6038ecb92f
5:1219088 SLC6A19 T>C	5	1219088	1219088	T	C	SLC6A19	c.1244T>C	NM_001003841.2	NP_001003841.1:p.(Leu415Pro)	NC_000005.9:g.1219088T>C	VUS	2 labs	6039b5cc7c
2:233704627 GIGYF2 G>T	2	233704627	233704627	G	T	GIGYF2	c.2835G>T	NM_015575.4	NP_056390.2:p.(Ser945=)	NC_000002.11:g.233704627G>T	(Likely) benign	2 labs	60369cd31d
17:48646346 CACNA1G A>AGT	17	48646346	48646376	A	AGT	CACNA1G	c.354+33_354+34dup	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48646375_48646376dup	(Likely) benign	2 labs	603dcb6d85
X:135494468 ADGRG4 C>T	X	135494468	135494468	C	T	ADGRG4	c.8980C>T	NM_153834.3	NP_722576.3:p.(Arg2994Trp)	NC_000023.10:g.135494468C>T	(Likely) benign	2 labs	6042f929fb
11:67258391 AIP A>G	11	67258391	67258391	A	G	AIP	c.920=	NM_003977.4	NP_003968.3:p.(Arg307=)	NC_000011.9:g.67258391A>G	(Likely) benign	2 labs	f3a3d889d7
19:1221995 STK11 C>T	19	1221995	1221995	C	T	STK11	c.910C>T	NM_000455.4	NP_000446.1:p.(Arg304Trp)	NC_000019.9:g.1221995C>T	(Likely) pathogenic	2 labs	604b99ac12
16:88496200 ZNF469 C>T	16	88496200	88496200	C	T	ZNF469	c.2322C>T	NM_001367624.2	NP_001354553.1:p.(Pro774=)	NC_000016.9:g.88496200C>T	(Likely) benign	2 labs	6045140458
12:132625438 DDX51 C>T	12	132625438	132625438	C	T	DDX51	c.1378G>A	NM_175066.4	NP_778236.2:p.(Gly460Ser)	NC_000012.11:g.132625438C>T	(Likely) benign	2 labs	604fc34adb
10:112572331 RBM20 C>T	10	112572331	112572331	C	T	RBM20	c.2176C>T	NM_001134363.3	NP_001127835.2:p.(Arg726Ter)	NC_000010.10:g.112572331C>T	(Likely) pathogenic	2 labs	f3a4a8a2c8
16:8829626 ABAT G>A	16	8829626	8829626	G	A	ABAT	c.30G>A	NM_000663.4	NP_000654.2:p.(Leu10=)	NC_000016.9:g.8829626G>A	(Likely) benign	2 labs	605446ba52
1:22155455 HSPG2 C>A	1	22155455	22155455	C	A	HSPG2	c.12113G>T	NM_001291860.1	NP_001278789.1:p.(Arg4038Leu)	NC_000001.10:g.22155455C>A	VUS	2 labs	605fdc30bc
4:109543131 RPL34 A>C	4	109543131	109543131	A	C	RPL34	c.16A>C	NM_033625.3	NP_296374.1:p.(Thr6Pro)	NC_000004.11:g.109543131A>C	VUS	2 labs	60607b095b
19:42880163 MEGF8 G>A	19	42880163	42880163	G	A	MEGF8	c.7774G>A	NM_001271938.2	NP_001258867.1:p.(Val2592Met)	NC_000019.9:g.42880163G>A	VUS	2 labs	6060bae791
17:41201191 BRCA1 G>A	17	41201191	41201191	G	A	BRCA1	c.5353C>T	NM_007294.4	NP_009225.1:p.(Gln1785Ter)	NC_000017.10:g.41201191G>A	(Likely) pathogenic	2 labs	60660d1b15
14:92477364 TRIP11 A>G	14	92477364	92477364	A	G	TRIP11	c.1280T>C	NM_004239.4	NP_004230.2:p.(Leu427Ser)	NC_000014.8:g.92477364A>G	VUS	2 labs	6069ec884f
15:91333927 BLM G>A	15	91333927	91333927	G	A	BLM	c.1747G>A	NM_001287248.1	NP_001274177.1:p.(Val583Met)	NC_000015.9:g.91333927G>A	VUS	2 labs	6073385ec1
22:36691696 MYH9 A>G	22	36691696	36691696	A	G	MYH9	c.3340T>C	NM_002473.5	NP_002464.1:p.(Ser1114Pro)	NC_000022.10:g.36691696A>G	VUS	2 labs	6077080df3
1:186277088 PRG4 G>C	1	186277088	186277088	G	C	PRG4	c.2237=	NM_005807.6	NP_005798.3:p.(Ser746=)	NC_000001.10:g.186277088G>C	(Likely) benign	2 labs	607ca3f6df
22:38522397 PLA2G6 T>C	22	38522397	38522397	T	C	PLA2G6	c.1408A>G	NM_003560.4	NP_003551.2:p.(Met470Val)	NC_000022.10:g.38522397T>C	VUS	3 labs	6086f65413
20:44050050 PIGT C>T	20	44050050	44050050	C	T	PIGT	c.1061C>T	NM_015937.5	NP_057021.2:p.(Ala354Val)	NC_000020.10:g.44050050C>T	(Likely) benign	2 labs	60819e68fd
17:29562746 NF1 C>G	17	29562746	29562746	C	G	NF1	c.3826C>G	NM_000267.3	NP_000258.1:p.(Arg1276Gly)	NC_000017.10:g.29562746C>G	(Likely) pathogenic	2 labs	609155df41
6:116442506 COL10A1 C>T	6	116442506	116442506	C	T	COL10A1	c.773G>A	NM_000493.3	NP_000484.2:p.(Arg258Gln)	NC_000006.11:g.116442506C>T	(Likely) benign	2 labs	608f72c0c0
14:59113231 DACT1 G>T	14	59113231	59113231	G	T	DACT1	c.1890G>T	NM_016651.5	NP_057735.2:p.(Lys630Asn)	NC_000014.8:g.59113231G>T	(Likely) benign	2 labs	609569766d
5:176638686 NSD1 C>T	5	176638686	176638686	C	T	NSD1	c.3286C>T	NM_022455.5	NP_071900.2:p.(His1096Tyr)	NC_000005.9:g.176638686C>T	(Likely) benign	2 labs	6098c5d795
2:179442851 TTN C>T	2	179442851	179442851	C	T	TTN	c.68391G>A	NM_001267550.2	NP_001254479.2:p.(Pro22797=)	NC_000002.11:g.179442851C>T	(Likely) benign	2 labs	60956d01e5
11:64976845 CAPN1 T>C	11	64976845	64976845	T	C	CAPN1	c.1781T>C	NM_001198868.1	NP_001185797.1:p.(Val594Ala)	NC_000011.9:g.64976845T>C	(Likely) benign	2 labs	60a548a395
14:91804340 CCDC88C G>A	14	91804340	91804340	G	A	CCDC88C	c.1050+9C>T	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91804340G>A	(Likely) benign	3 labs	60ac142e9a
X:32398661 DMD G>C	X	32398661	32398661	G	C	DMD	c.4811C>G	NM_004006.3	NP_003997.2:p.(Pro1604Arg)	NC_000023.10:g.32398661G>C	VUS	2 labs	f3b25059a0
6:90661242 BACH2 C>T	6	90661242	90661242	C	T	BACH2	c.583G>A	NM_021813.4	NP_068585.1:p.(Ala195Thr)	NC_000006.11:g.90661242C>T	(Likely) benign	2 labs	60abe08842
3:4699936 ITPR1 G>A	3	4699936	4699936	G	A	ITPR1	c.1080G>A	NM_001168272.2	NP_001161744.1:p.(Leu360=)	NC_000003.11:g.4699936G>A	(Likely) benign	2 labs	60b5df6f71
1:197298095 CRB1 T>C	1	197298095	197298095	T	C	CRB1	c.407T>C	NM_001257965.2	NP_001244894.1:p.(Ile136Thr)	NC_000001.10:g.197298095T>C	VUS	2 labs	60b88c73c3
3:14176278 TMEM43 G>A	3	14176278	14176278	G	A	TMEM43	c.592G>A	NM_024334.2	NP_077310.1:p.(Asp198Asn)	NC_000003.11:g.14176278G>A	VUS	2 labs	60c769c91a
10:118030415 GFRA1 A>T	10	118030415	118030415	A	T	GFRA1	c.253T>A	NM_005264.5	NP_005255.1:p.(Tyr85Asn)	NC_000010.10:g.118030415A>T	(Likely) benign	2 labs	60d16f63be
21:46875644 COL18A1 G>A	21	46875644	46875644	G	A	COL18A1	c.200G>A	NM_130444.3	NP_569711.2:p.(Arg67Gln)	NC_000021.8:g.46875644G>A	(Likely) benign	2 labs	60dd0e4749
7:128489560 FLNC C>T	7	128489560	128489560	C	T	FLNC	c.5127C>T	NM_001458.4	NP_001449.3:p.(Pro1709=)	NC_000007.13:g.128489560C>T	(Likely) benign	2 labs	60e011664a
X:68060324 EFNB1 G>A	X	68060324	68060324	G	A	EFNB1	c.868G>A	NM_004429.4	NP_004420.1:p.(Gly290Arg)	NC_000023.10:g.68060324G>A	(Likely) benign	2 labs	60e5845d0f
16:23641147 PALB2 G>A	16	23641147	23641147	G	A	PALB2	c.2328C>T	NM_024675.3	NP_078951.2:p.(Phe776=)	NC_000016.9:g.23641147G>A	(Likely) benign	2 labs	60e8c4a914
7:117199641 CFTR A>G	7	117199641	117199641	A	G	CFTR	c.1516A>G	NM_000492.4	NP_000483.3:p.(Ile506Val)	NC_000007.13:g.117199641A>G	(Likely) benign	2 labs	60ea7588b9
17:79477830 ACTG1 C>T	17	79477830	79477830	C	T	ACTG1	c.1014G>A	NM_001199954.2	NP_001186883.1:p.(Ser338=)	NC_000017.10:g.79477830C>T	(Likely) benign	2 labs	60f46b6ee6
X:15349992 PIGA T>C	X	15349992	15349992	T	C	PIGA	c.61A>G	NM_002641.3	NP_002632.1:p.(Ser21Gly)	NC_000023.10:g.15349992T>C	VUS	2 labs	60f71dd85f
17:33430317 RAD51D G>A	17	33430317	33430317	G	A	RAD51D	c.694C>T	NM_002878.4	NP_002869.3:p.(Arg232Ter)	NC_000017.10:g.33430317G>A	(Likely) pathogenic	5 labs	f3bbb560d9
22:36697014 MYH9 G>A	22	36697014	36697014	G	A	MYH9	c.2721C>T	NM_002473.5	NP_002464.1:p.(Thr907=)	NC_000022.10:g.36697014G>A	(Likely) benign	2 labs	61034ecc2b
21:43808627 TMPRSS3 C>T	21	43808627	43808627	C	T	TMPRSS3	c.331G>A	NM_024022.2	NP_076927.1:p.(Gly111Ser)	NC_000021.8:g.43808627C>T	(Likely) benign	2 labs	610cb453f0
17:70118935 SOX9 C>T	17	70118935	70118935	C	T	SOX9	c.507C>T	NM_000346.4	NP_000337.1:p.(His169=)	NC_000017.10:g.70118935C>T	(Likely) benign	4 labs	611253dff4
22:24919586 UPB1 G>A	22	24919586	24919586	G	A	UPB1	c.917-1G>A	NM_016327.3	NP_057411.1:p.?	NC_000022.10:g.24919586G>A	(Likely) pathogenic	4 labs	611ab87d72
14:64688372 SYNE2 G>A	14	64688372	64688372	G	A	SYNE2	c.20140G>A	NM_182914.2	NP_878918.2:p.(Asp6714Asn)	NC_000014.8:g.64688372G>A	(Likely) benign	3 labs	611b2e793d
4:88584037 DMP1 C>T	4	88584037	88584037	C	T	DMP1	c.1107C>T	NM_004407.3	NP_004398.1:p.(Asp369=)	NC_000004.11:g.88584037C>T	(Likely) benign	2 labs	6123f50249
16:3293407 MEFV T>C	16	3293407	3293407	T	C	MEFV	c.2080A>G	NM_000243.2	NP_000234.1:p.(Met694Val)	NC_000016.9:g.3293407T>C	(Likely) pathogenic	6 labs	f3bcafa43b
14:23899059 MYH7 C>T	14	23899059	23899059	C	T	MYH7	c.1063G>A	NM_000257.4	NP_000248.2:p.(Ala355Thr)	NC_000014.8:g.23899059C>T	(Likely) pathogenic	5 labs	612d630545
1:145457605 POLR3GL C>T	1	145457605	145457605	C	T	POLR3GL	c.326-1G>A	NM_032305.3	NP_115681.1:p.?	NC_000001.10:g.145457605C>T	(Likely) pathogenic	2 labs	613fc124ed
12:22005285 ABCC9 C>G	12	22005285	22005285	C	G	ABCC9	c.2643+17G>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22005285C>G	(Likely) benign	2 labs	613d6874ac
2:179300866 PRKRA T>A	2	179300866	179300866	T	A	PRKRA	c.784+6A>T	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179300866T>A	(Likely) benign	2 labs	f3c36e389a
9:137701080 COL5A1 G>A	9	137701080	137701080	G	A	COL5A1	c.3418G>A	NM_000093.5	NP_000084.3:p.(Val1140Met)	NC_000009.11:g.137701080G>A	(Likely) benign	2 labs	f3c4485375
17:56787218 RAD51C A>G	17	56787218	56787218	A	G	RAD51C	c.706-2A>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56787218A>G	(Likely) pathogenic	2 labs	f3c5cedf9f
19:48807210 ODAD1 C>T	19	48807210	48807210	C	T	ODAD1	c.742G>A	NM_144577.4	NP_653178.3:p.(Ala248Thr)	NC_000019.9:g.48807210C>T	(Likely) pathogenic	4 labs	616036d08b
7:55259485 EGFR C>T	7	55259485	55259485	C	T	EGFR	c.2543C>T	NM_005228.5	NP_005219.2:p.(Pro848Leu)	NC_000007.13:g.55259485C>T	VUS	3 labs	616bdf952a
11:22283733 ANO5 T>C	11	22283733	22283733	T	C	ANO5	c.1689T>C	NM_213599.3	NP_998764.1:p.(Phe563=)	NC_000011.9:g.22283733T>C	(Likely) benign	2 labs	6178e5aeb6
17:29557330 NF1 CTG>C	17	29557330	29557335	CTG	C	NF1	c.3047_3048del	NM_001042492.3	NP_001035957.1:p.(Cys1016SerfsTer4)	NC_000017.10:g.29557334_29557335del	(Likely) pathogenic	2 labs	617990846d
9:137717651 COL5A1 C>T	9	137717651	137717651	C	T	COL5A1	c.4968C>T	NM_000093.4	NP_000084.3:p.(Val1656=)	NC_000009.11:g.137717651C>T	(Likely) benign	2 labs	6182d7a2f4
17:79477818 ACTG1 A>G	17	79477818	79477818	A	G	ACTG1	c.1026T>C	NM_001199954.2	NP_001186883.1:p.(Gly342=)	NC_000017.10:g.79477818A>G	(Likely) benign	2 labs	618899ed70
10:50681033 ERCC6 G>A	10	50681033	50681033	G	A	ERCC6	c.2751C>T	NM_000124.2	NP_000115.1:p.(Gly917=)	NC_000010.10:g.50681033G>A	(Likely) benign	2 labs	618bd16cb8
16:50744688 NOD2 A>G	16	50744688	50744688	A	G	NOD2	c.866A>G	NM_022162.1	NP_071445.1:p.(Asn289Ser)	NC_000016.9:g.50744688A>G	(Likely) benign	2 labs	618c153d57
9:32492443 RIGI GT>G	9	32492443	32492446	GT	G	RIGI	c.516del	NM_014314.4	NP_055129.2:p.(Lys172AsnfsTer17)	NC_000009.11:g.32492446del	VUS	2 labs	6190b61e34
3:14183153 TMEM43 G>C	3	14183153	14183153	G	C	TMEM43	c.1061G>C	NM_024334.3	NP_077310.1:p.(Cys354Ser)	NC_000003.11:g.14183153G>C	(Likely) benign	4 labs	f3c6ff32b0
16:3297144 MEFV C>G	16	3297144	3297144	C	G	MEFV	c.1459G>C	NM_000243.2	NP_000234.1:p.(Val487Leu)	NC_000016.9:g.3297144C>G	(Likely) benign	2 labs	6199f11b29
X:39916515 BCOR T>G	X	39916515	39916515	T	G	BCOR	c.4488A>C	NM_001123385.2	NP_001116857.1:p.(Ala1496=)	NC_000023.10:g.39916515T>G	(Likely) benign	2 labs	619cf89914
2:48132690 FBXO11 GGCT>G	2	48132690	48132713	GGCT	G	FBXO11	c.167_169del	NM_001190274.2	NP_001177203.1:p.(Gln56del)	NC_000002.11:g.48132711_48132713del	(Likely) benign	3 labs	f3c8502db3
X:48925037 CCDC120 C>A	X	48925037	48925037	C	A	CCDC120				NC_000023.10:g.48925037C>A	(Likely) benign	2 labs	61ad832a60
19:17945495 JAK3 C>T	19	17945495	17945495	C	T	JAK3	c.2235G>A	NM_000215.3	NP_000206.2:p.(Pro745=)	NC_000019.9:g.17945495C>T	(Likely) benign	2 labs	61aeafefd8
1:120462234 NOTCH2 C>G	1	120462234	120462234	C	G	NOTCH2	c.5482G>C	NM_024408.3	NP_077719.2:p.(Gly1828Arg)	NC_000001.10:g.120462234C>G	VUS	2 labs	61b07b9efa
1:186158946 HMCN1 A>G	1	186158946	186158946	A	G	HMCN1	c.16844A>G	NM_031935.2	NP_114141.2:p.(Asn5615Ser)	NC_000001.10:g.186158946A>G	(Likely) benign	2 labs	61b83ce420
9:133963217 LAMC3 T>C	9	133963217	133963217	T	C	LAMC3	c.4477+13T>C	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133963217T>C	(Likely) benign	2 labs	61bab22485
17:1637302 WDR81 A>G	17	1637302	1637302	A	G	WDR81	c.4971A>G	NM_001163809.2	NP_001157281.1:p.(Leu1657=)	NC_000017.10:g.1637302A>G	(Likely) benign	2 labs	61bf8e0ef0
15:85401144 ALPK3 C>T	15	85401144	85401144	C	T	ALPK3	c.3175C>T	NM_020778.5	NP_065829.4:p.(Arg1059Ter)	NC_000015.9:g.85401144C>T	(Likely) pathogenic	3 labs	61ca348741
17:76134467 TMC8 C>T	17	76134467	76134467	C	T	TMC8	c.1571C>T	NM_152468.4	NP_689681.2:p.(Pro524Leu)	NC_000017.10:g.76134467C>T	(Likely) benign	2 labs	61c5317906
7:100253168 ACTL6B C>G	7	100253168	100253168	C	G	ACTL6B	c.144G>C	NM_016188.4	NP_057272.1:p.(Glu48Asp)	NC_000007.13:g.100253168C>G	(Likely) benign	2 labs	61d0b698c4
7:103341382 RELN C>T	7	103341382	103341382	C	T	RELN	c.877G>A	NM_005045.4	NP_005036.2:p.(Asp293Asn)	NC_000007.13:g.103341382C>T	VUS	2 labs	61daf75f9f
9:101518825 ANKS6 G>C	9	101518825	101518825	G	C	ANKS6	c.2203C>G	NM_173551.4	NP_775822.3:p.(Pro735Ala)	NC_000009.11:g.101518825G>C	(Likely) benign	3 labs	61e5fcd90f
16:11001797 CIITA C>T	16	11001797	11001797	C	T	CIITA	c.2451C>T	NM_001286402.1	NP_001273331.1:p.(Ala817=)	NC_000016.9:g.11001797C>T	(Likely) benign	2 labs	61ebc4ea48
14:77750148 POMT2 T>A	14	77750148	77750148	T	A	POMT2	c.1645A>T	NM_013382.7	NP_037514.2:p.(Met549Leu)	NC_000014.8:g.77750148T>A	VUS	2 labs	61f0bf6396
9:140637837 EHMT1 G>T	9	140637837	140637837	G	T	EHMT1	c.838G>T	NM_024757.5	NP_079033.4:p.(Val280Phe)	NC_000009.11:g.140637837G>T	(Likely) benign	2 labs	61ef713f6c
19:54403703 PRKCG C>G	19	54403703	54403703	C	G	PRKCG	c.1404C>G	NM_002739.3	NP_002730.1:p.(Leu468=)	NC_000019.9:g.54403703C>G	(Likely) benign	2 labs	6208a88ef0
2:44099357 ABCG8 C>T	2	44099357	44099357	C	T	ABCG8	c.1128-5C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099357C>T	(Likely) benign	2 labs	f3d0cd24aa
16:3297085 MEFV G>A	16	3297085	3297085	G	A	MEFV	c.1518C>T	NM_000243.2	NP_000234.1:p.(Ile506=)	NC_000016.9:g.3297085G>A	(Likely) benign	2 labs	620addc1e0
X:63411556 AMER1 G>A	X	63411556	63411556	G	A	AMER1	c.1611C>T	NM_152424.4	NP_689637.3:p.(Asp537=)	NC_000023.10:g.63411556G>A	(Likely) benign	2 labs	62132a74c9
16:15834059 MYH11 G>C	16	15834059	15834059	G	C	MYH11	c.2881-14C>G	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15834059G>C	(Likely) benign	2 labs	62221d1c35
16:84089622 MBTPS1 C>T	16	84089622	84089622	C	T	MBTPS1	c.2950G>A	NM_003791.3	NP_003782.1:p.(Asp984Asn)	NC_000016.9:g.84089622C>T	(Likely) benign	2 labs	622345113a
X:153036818 PLXNB3 G>C	X	153036818	153036818	G	C	PLXNB3	c.2376G>C	NM_001163257.1	NP_001156729.1:p.(Gln792His)	NC_000023.10:g.153036818G>C	(Likely) benign	2 labs	6229cce712
15:57384075 TCF12 A>G	15	57384075	57384075	A	G	TCF12	c.311A>G	NM_207037.1	NP_996920.1:p.(Asn104Ser)	NC_000015.9:g.57384075A>G	(Likely) benign	2 labs	622e34fc8c
8:95850702 INTS8 A>G	8	95850702	95850702	A	G	INTS8	c.873A>G	NM_017864.3	NP_060334.2:p.(Leu291=)	NC_000008.10:g.95850702A>G	(Likely) benign	2 labs	623c9297e1
8:145737123 RECQL4 G>A	8	145737123	145737123	G	A	RECQL4	c.3443C>T	NM_004260.4	NP_004251.4:p.(Ser1148Phe)	NC_000008.10:g.145737123G>A	(Likely) benign	4 labs	624150253e
8:77912225 PEX2 C>T	8	77912225	77912225	C	T	PEX2	c.-160+1G>A	NM_001172086.1	NP_001165557.1:p.?	NC_000008.10:g.77912225C>T	(Likely) pathogenic	2 labs	624ce2efac
2:44051154 ABCG5 G>A	2	44051154	44051154	G	A	ABCG5	c.1222C>T	NM_022436.3	NP_071881.1:p.(Arg408Ter)	NC_000002.11:g.44051154G>A	(Likely) pathogenic	2 labs	624afa9c44
19:11558240 PRKCSH T>C	19	11558240	11558240	T	C	PRKCSH	c.850-14T>C	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11558240T>C	(Likely) benign	3 labs	6253384aec
3:180334623 CCDC39 C>T	3	180334623	180334623	C	T	CCDC39	c.2397G>A	NM_181426.2	NP_852091.1:p.(Val799=)	NC_000003.11:g.180334623C>T	(Likely) benign	2 labs	6255f27e89
20:10035120 ANKEF1 C>A	20	10035120	10035120	C	A	ANKEF1	c.2045C>A	NM_022096.6	NP_071379.3:p.(Ser682Ter)	NC_000020.10:g.10035120C>A	VUS	2 labs	6254b45599
9:135202895 SETX T>C	9	135202895	135202895	T	C	SETX	c.4090A>G	NM_015046.7	NP_055861.3:p.(Arg1364Gly)	NC_000009.11:g.135202895T>C	(Likely) benign	2 labs	625a21d419
8:41753896 ANK1 G>A	8	41753896	41753896	G	A	ANK1	c.103C>T	NM_001142446.2	NP_001135918.1:p.(Arg35Cys)	NC_000008.10:g.41753896G>A	VUS	2 labs	6267e755ea
7:42065833 GLI3 C>T	7	42065833	42065833	C	T	GLI3	c.1207G>A	NM_000168.6	NP_000159.3:p.(Val403Ile)	NC_000007.13:g.42065833C>T	(Likely) benign	2 labs	627034f11b
X:72433986 NAP1L2 G>T	X	72433986	72433986	G	T	NAP1L2	c.343C>A	NM_021963.3	NP_068798.1:p.(Leu115Ile)	NC_000023.10:g.72433986G>T	VUS	2 labs	62824d0a28
13:32906738 BRCA2 C>T	13	32906738	32906738	C	T	BRCA2	c.1123C>T	NM_000059.4	NP_000050.3:p.(Pro375Ser)	NC_000013.10:g.32906738C>T	(Likely) benign	2 labs	627261f017
17:72916430 USH1G G>C	17	72916430	72916430	G	C	USH1G	c.501C>G	NM_173477.5	NP_775748.2:p.(Arg167=)	NC_000017.10:g.72916430G>C	(Likely) benign	2 labs	62809796b5
19:13346507 CACNA1A C>T	19	13346507	13346507	C	T	CACNA1A	c.5006G>A	NM_023035.3	NP_075461.2:p.(Arg1669Gln)	NC_000019.9:g.13346507C>T	(Likely) pathogenic	2 labs	628c56327f
8:100847506 VPS13B C>A	8	100847506	100847506	C	A	VPS13B	c.9771C>A	NM_017890.4	NP_060360.3:p.(Ile3257=)	NC_000008.10:g.100847506C>A	(Likely) benign	2 labs	6289766deb
16:15818008 MYH11 C>T	16	15818008	15818008	C	T	MYH11	c.4386+10G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818008C>T	(Likely) benign	2 labs	6291ec8597
X:15349388 PIGA C>T	X	15349388	15349388	C	T	PIGA	c.665G>A	NM_002641.3	NP_002632.1:p.(Arg222Lys)	NC_000023.10:g.15349388C>T	VUS	2 labs	629881cf7f
2:152955152 CACNB4 C>T	2	152955152	152955152	C	T	CACNB4	c.64-225G>A	NM_000726.5	NP_000717.2:p.?	NC_000002.11:g.152955152C>T	(Likely) benign	2 labs	62a6db020d
5:131705949 SLC22A5 T>C	5	131705949	131705949	T	C	SLC22A5	c.285T>C	NM_003060.4	NP_003051.1:p.(Leu95=)	NC_000005.9:g.131705949T>C	(Likely) benign	3 labs	f3e612034e
2:149243408 MBD5 A>T	2	149243408	149243408	A	T	MBD5	c.2943A>T	NM_018328.4	NP_060798.2:p.(Gln981His)	NC_000002.11:g.149243408A>T	VUS	2 labs	62b26909f1
7:130042642 CEP41 T>C	7	130042642	130042642	T	C	CEP41	c.423-2A>G	NM_018718.2	NP_061188.1:p.?	NC_000007.13:g.130042642T>C	VUS	2 labs	62b6be30a8
18:34238099 FHOD3 C>T	18	34238099	34238099	C	T	FHOD3	c.1783C>T	NM_001281740.3	NP_001268669.1:p.(Pro595Ser)	NC_000018.9:g.34238099C>T	(Likely) benign	3 labs	62bb80ae0f
2:191900984 STAT4 A>G	2	191900984	191900984	A	G	STAT4	c.1476T>C	NM_003151.3	NP_003142.1:p.(Ser492=)	NC_000002.11:g.191900984A>G	(Likely) benign	2 labs	62c9fac352
17:41244620 BRCA1 GT>G	17	41244620	41244624	GT	G	BRCA1	c.2927del	NM_007294.4	NP_009225.1:p.(Asn976ThrfsTer24)	NC_000017.10:g.41244624del	(Likely) pathogenic	2 labs	62c6d6e706
4:85738575 WDFY3 C>T	4	85738575	85738575	C	T	WDFY3	c.1857G>A	NM_014991.6	NP_055806.2:p.(Thr619=)	NC_000004.11:g.85738575C>T	(Likely) benign	2 labs	62d7f02911
17:42992526 GFAP G>C	17	42992526	42992526	G	C	GFAP	c.329C>G	NM_002055.5	NP_002046.1:p.(Thr110Ser)	NC_000017.10:g.42992526G>C	(Likely) benign	2 labs	62dc5065c4
6:129687449 LAMA2 G>A	6	129687449	129687449	G	A	LAMA2	c.4803G>A	NM_000426.3	NP_000417.2:p.(Pro1601=)	NC_000006.11:g.129687449G>A	(Likely) benign	2 labs	62d7125442
20:10628750 JAG1 G>A	20	10628750	10628750	G	A	JAG1	c.1578C>T	NM_000214.3	NP_000205.1:p.(Ile526=)	NC_000020.10:g.10628750G>A	(Likely) benign	4 labs	62ced02dc4
X:21863355 MBTPS2 G>A	X	21863355	21863355	G	A	MBTPS2	c.291G>A	NM_015884.4	NP_056968.1:p.(Thr97=)	NC_000023.10:g.21863355G>A	(Likely) benign	2 labs	62d63a4539
12:22059121 ABCC9 C>T	12	22059121	22059121	C	T	ABCC9	c.1557G>A	NM_020297.4	NP_064693.2:p.(Glu519=)	NC_000012.11:g.22059121C>T	(Likely) benign	5 labs	f3e7a95795
1:205128814 DSTYK G>A	1	205128814	205128814	G	A	DSTYK	c.2106-7C>T	NM_015375.2	NP_056190.1:p.?	NC_000001.10:g.205128814G>A	(Likely) benign	2 labs	62e1ca3ccc
X:32716024 DMD G>A	X	32716024	32716024	G	A	DMD	c.923C>T	NM_004006.3	NP_003997.2:p.(Thr308Ile)	NC_000023.10:g.32716024G>A	(Likely) benign	4 labs	62e9aba69f
17:1637174 WDR81 G>A	17	1637174	1637174	G	A	WDR81	c.4843G>A	NM_001163809.1	NP_001157281.1:p.(Gly1615Arg)	NC_000017.10:g.1637174G>A	(Likely) benign	2 labs	62f1a58c0c
8:55539197 RP1 T>G	8	55539197	55539197	T	G	RP1	c.2755T>G	NM_006269.2	NP_006260.1:p.(Trp919Gly)	NC_000008.10:g.55539197T>G	VUS	2 labs	62ef5defcb
10:79742569 POLR3A C>T	10	79742569	79742569	C	T	POLR3A	c.3436G>A	NM_007055.3	NP_008986.2:p.(Ala1146Thr)	NC_000010.10:g.79742569C>T	VUS	2 labs	62fa54eb95
X:70347217 MED12 C>T	X	70347217	70347217	C	T	MED12	c.2881C>T	NM_005120.3	NP_005111.2:p.(Arg961Trp)	NC_000023.10:g.70347217C>T	(Likely) pathogenic	2 labs	f3ef798f78
5:161324212 GABRA1 C>A	5	161324212	161324212	C	A	GABRA1	c.1155C>A	NM_001127644.2	NP_001121116.1:p.(Gly385=)	NC_000005.9:g.161324212C>A	(Likely) benign	2 labs	630c14cb79
1:206945738 IL10 C>T	1	206945738	206945738	C	T	IL10	c.43G>A	NM_000572.3	NP_000563.1:p.(Gly15Arg)	NC_000001.10:g.206945738C>T	(Likely) benign	3 labs	630e46d25e
10:75843194 VCL C>A	10	75843194	75843194	C	A	VCL	c.945C>A	NM_014000.3	NP_054706.1:p.(Gly315=)	NC_000010.10:g.75843194C>A	(Likely) benign	3 labs	630e391e30
13:32914137 BRCA2 C>G	13	32914137	32914137	C	G	BRCA2	c.5645C>G	NM_000059.3	NP_000050.2:p.(Ser1882Ter)	NC_000013.10:g.32914137C>G	(Likely) pathogenic	2 labs	630ec60a2e
19:11686037 ACP5 C>G	19	11686037	11686037	C	G	ACP5	c.766G>C	NM_001111035.2	NP_001104505.1:p.(Val256Leu)	NC_000019.9:g.11686037C>G	(Likely) benign	2 labs	6316daab81
10:73269891 CDH23 G>A	10	73269891	73269891	G	A	CDH23	c.198G>A	NM_022124.6	NP_071407.4:p.(Val66=)	NC_000010.10:g.73269891G>A	(Likely) benign	2 labs	6314ae9d9b
18:6982519 LAMA1 T>C	18	6982519	6982519	T	C	LAMA1	c.5867A>G	NM_005559.3	NP_005550.2:p.(Asn1956Ser)	NC_000018.9:g.6982519T>C	(Likely) benign	2 labs	631824ec1c
6:7585490 DSP G>A	6	7585490	7585490	G	A	DSP	c.7995G>A	NM_004415.4	NP_004406.2:p.(Thr2665=)	NC_000006.11:g.7585490G>A	(Likely) benign	4 labs	632058c8d6
8:141407834 TRAPPC9 G>A	8	141407834	141407834	G	A	TRAPPC9	c.992C>T	NM_001321646.1	NP_001308575.1:p.(Ala331Val)	NC_000008.10:g.141407834G>A	VUS	2 labs	631baeb545
2:170099899 LRP2 G>A	2	170099899	170099899	G	A	LRP2	c.3550+14C>T	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170099899G>A	(Likely) benign	2 labs	f3f091ce4c
12:22063251 ABCC9 CAA>C	12	22063251	22063265	CAA	C	ABCC9	c.1165-7_1165-6del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063264_22063265del	(Likely) benign	3 labs	f3f2fdc561
X:133119305 GPC3 G>A	X	133119305	133119305	G	A	GPC3	c.172C>T	NM_001164617.1	NP_001158089.1:p.(Pro58Ser)	NC_000023.10:g.133119305G>A	(Likely) benign	2 labs	63378e84a8
19:36595436 WDR62 A>C	19	36595436	36595436	A	C	WDR62	c.4170A>C	NM_001083961.2	NP_001077430.1:p.(Leu1390Phe)	NC_000019.9:g.36595436A>C	(Likely) benign	3 labs	f3fdfabc68
4:186446224 PDLIM3 C>T	4	186446224	186446224	C	T	PDLIM3	c.195G>A	NM_014476.5	NP_055291.2:p.(Ala65=)	NC_000004.11:g.186446224C>T	(Likely) benign	2 labs	63395a3029
7:103629665 RELN C>T	7	103629665	103629665	C	T	RELN	c.139G>A	NM_005045.4	NP_005036.2:p.(Glu47Lys)	NC_000007.13:g.103629665C>T	(Likely) benign	2 labs	f4007be288
17:48650063 CACNA1G G>A	17	48650063	48650063	G	A	CACNA1G	c.895G>A	NM_018896.4	NP_061496.2:p.(Gly299Ser)	NC_000017.10:g.48650063G>A	(Likely) benign	3 labs	6345d685b3
1:236987512 MTR C>T	1	236987512	236987512	C	T	MTR	c.858C>T	NM_000254.3	NP_000245.2:p.(Pro286=)	NC_000001.10:g.236987512C>T	(Likely) benign	2 labs	633ba361f1
5:127664452 FBN2 C>T	5	127664452	127664452	C	T	FBN2	c.4407G>A	NM_001999.4	NP_001990.2:p.(Pro1469=)	NC_000005.9:g.127664452C>T	VUS	2 labs	f4009ec893
2:179424742 TTN C>T	2	179424742	179424742	C	T	TTN	c.86117G>A	NM_001267550.2	NP_001254479.2:p.(Arg28706Gln)	NC_000002.11:g.179424742C>T	(Likely) benign	2 labs	6352c2760c
1:7826559 CAMTA1 C>T	1	7826559	7826559	C	T	CAMTA1	c.4681C>T	NM_001349609.1	NP_001336538.1:p.(Gln1561Ter)	NC_000001.10:g.7826559C>T	(Likely) benign	2 labs	635d024d2d
17:29562641 NF1 C>T	17	29562641	29562641	C	T	NF1	c.3721C>T	NM_000267.3	NP_000258.1:p.(Arg1241Ter)	NC_000017.10:g.29562641C>T	(Likely) pathogenic	2 labs	63756f38a6
3:123385073 MYLK C>T	3	123385073	123385073	C	T	MYLK	c.3824G>A	NM_053025.3	NP_444253.3:p.(Arg1275Gln)	NC_000003.11:g.123385073C>T	VUS	2 labs	6372bea782
3:100002602 TBC1D23 A>G	3	100002602	100002602	A	G	TBC1D23	c.423A>G	NM_001199198.3	NP_001186127.1:p.(Pro141=)	NC_000003.11:g.100002602A>G	(Likely) benign	2 labs	636b3c0f77
X:47478764 SYN1 G>A	X	47478764	47478764	G	A	SYN1	c.364C>T	NM_006950.3	NP_008881.2:p.(Pro122Ser)	NC_000023.10:g.47478764G>A	(Likely) benign	2 labs	6375a2b322
10:13154576 OPTN C>T	10	13154576	13154576	C	T	OPTN	c.493C>T	NM_001008211.1	NP_001008212.1:p.(Gln165Ter)	NC_000010.10:g.13154576C>T	(Likely) pathogenic	2 labs	6377b26215
X:49067105 CACNA1F C>T	X	49067105	49067105	C	T	CACNA1F	c.4463G>A	NM_005183.3	NP_005174.2:p.(Arg1488His)	NC_000023.10:g.49067105C>T	VUS	2 labs	637d6dc1be
19:49519997 LHB A>G	19	49519997	49519997	A	G	LHB	c.16-26T>C	NM_000894.3	NP_000885.1:p.?	NC_000019.9:g.49519997A>G	(Likely) benign	2 labs	f40e2eb5dd
1:45797324 MUTYH T>A	1	45797324	45797324	T	A	MUTYH	c.1186+9A>T	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45797324T>A	(Likely) benign	2 labs	f40fd27952
2:47637253 MSH2 TCA>T	2	47637253	47637255	TCA	T	MSH2	c.388_389del	NM_000251.3	NP_000242.1:p.(Gln130ValfsTer2)	NC_000002.11:g.47637254_47637255del	(Likely) pathogenic	2 labs	638b437778
3:49693337 BSN CAGT>C	3	49693337	49693340	CAGT	C	BSN	c.6349_6351del	NM_003458.4	NP_003449.2:p.(Ser2117del)	NC_000003.11:g.49693338_49693340del	VUS	2 labs	638db1b209
2:121747113 GLI2 G>A	2	121747113	121747113	G	A	GLI2	c.3623G>A	NM_005270.4	NP_005261.2:p.(Arg1208His)	NC_000002.11:g.121747113G>A	(Likely) benign	2 labs	638edc8b52
17:29654571 NF1 C>T	17	29654571	29654571	C	T	NF1	c.5260C>T	NM_000267.3	NP_000258.1:p.(Gln1754Ter)	NC_000017.10:g.29654571C>T	(Likely) pathogenic	2 labs	638fe9edaa
2:238285924 COL6A3 A>G	2	238285924	238285924	A	G	COL6A3	c.2561T>C	NM_004369.3	NP_004360.2:p.(Val854Ala)	NC_000002.11:g.238285924A>G	(Likely) benign	2 labs	63927f37d7
8:90960042 NBN C>T	8	90960042	90960042	C	T	NBN	c.1668+10G>A	NM_001024688.2	NP_001019859.1:p.?	NC_000008.10:g.90960042C>T	(Likely) benign	2 labs	639875d180
3:47044122 NBEAL2 A>T	3	47044122	47044122	A	T	NBEAL2	c.5302-13A>T	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47044122A>T	(Likely) benign	2 labs	f41866fb92
2:179597839 TTN A>G	2	179597839	179597839	A	G	TTN	c.16064T>C	NM_001267550.2	NP_001254479.2:p.(Ile5355Thr)	NC_000002.11:g.179597839A>G	VUS	2 labs	63a9c9c983
11:2549230 KCNQ1 G>A	11	2549230	2549230	G	A	KCNQ1	c.459G>A	NM_000218.3	NP_000209.2:p.(Thr153=)	NC_000011.9:g.2549230G>A	(Likely) benign	4 labs	63abc6d716
2:179507024 TTN C>A	2	179507024	179507024	C	A	TTN	c.40498G>T	NM_001267550.2	NP_001254479.2:p.(Val13500Phe)	NC_000002.11:g.179507024C>A	(Likely) benign	5 labs	f41aa5ff72
X:99920566 SRPX2 C>A	X	99920566	99920566	C	A	SRPX2	c.693C>A	NM_014467.2	NP_055282.1:p.(His231Gln)	NC_000023.10:g.99920566C>A	(Likely) benign	2 labs	63b5947295
11:61722670 BEST1 C>G	11	61722670	61722670	C	G	BEST1	c.64C>G	NM_001139443.2	NP_001132915.1:p.(Leu22Val)	NC_000011.9:g.61722670C>G	(Likely) pathogenic	3 labs	63b9b708fd
2:9683364 ADAM17 T>C	2	9683364	9683364	T	C	ADAM17	c.148A>G	NM_003183.6	NP_003174.3:p.(Ile50Val)	NC_000002.11:g.9683364T>C	(Likely) benign	3 labs	63c1f7c65d
17:33495317 UNC45B G>A	17	33495317	33495317	G	A	UNC45B	c.1389G>A	NM_001033576.1	NP_001028748.1:p.(Val463=)	NC_000017.10:g.33495317G>A	(Likely) benign	2 labs	63c9531327
19:55672513 DNAAF3 C>T	19	55672513	55672513	C	T	DNAAF3	c.1036G>A	NM_001256714.1	NP_001243643.1:p.(Ala346Thr)	NC_000019.9:g.55672513C>T	(Likely) benign	3 labs	63d1912098
3:53836185 CACNA1D A>G	3	53836185	53836185	A	G	CACNA1D	c.5480A>G	NM_000720.3	NP_000711.1:p.(Tyr1827Cys)	NC_000003.11:g.53836185A>G	VUS	2 labs	63d6f62184
17:6531919 KIAA0753 A>G	17	6531919	6531919	A	G	KIAA0753	c.236T>C	NM_014804.2	NP_055619.2:p.(Val79Ala)	NC_000017.10:g.6531919A>G	(Likely) benign	2 labs	63d80d4556
22:38529014 PLA2G6 G>A	22	38529014	38529014	G	A	PLA2G6	c.901C>T	NM_003560.4	NP_003551.2:p.(Arg301Cys)	NC_000022.10:g.38529014G>A	VUS	3 labs	63d8f04a4f
X:37913572 SYTL5 G>A	X	37913572	37913572	G	A	SYTL5	c.226G>A	NM_001163335.1	NP_001156807.1:p.(Asp76Asn)	NC_000023.10:g.37913572G>A	(Likely) benign	2 labs	63dc28ed8f
14:23859605 MYH6 C>T	14	23859605	23859605	C	T	MYH6	c.3393G>A	NM_002471.3	NP_002462.2:p.(Arg1131=)	NC_000014.8:g.23859605C>T	(Likely) benign	2 labs	63e8d9ba6a
3:43121654 POMGNT2 G>A	3	43121654	43121654	G	A	POMGNT2	c.1270C>T	NM_032806.5	NP_116195.2:p.(Arg424Cys)	NC_000003.11:g.43121654G>A	VUS	2 labs	63ebb6c9ff
2:74760773 LOXL3 A>T	2	74760773	74760773	A	T	LOXL3				NC_000002.11:g.74760773A>T	VUS	2 labs	63ecbf1e80
4:39236502 WDR19 C>T	4	39236502	39236502	C	T	WDR19	c.2363+7C>T	NM_025132.3	NP_079408.3:p.?	NC_000004.11:g.39236502C>T	(Likely) benign	3 labs	63faeb0fa5
3:170716937 SLC2A2 C>A	3	170716937	170716937	C	A	SLC2A2	c.1087G>T	NM_000340.2	NP_000331.1:p.(Ala363Ser)	NC_000003.11:g.170716937C>A	VUS	3 labs	63fea147dc
2:152436012 NEB T>G	2	152436012	152436012	T	G	NEB	c.16544A>C	NM_001271208.1	NP_001258137.1:p.(Lys5515Thr)	NC_000002.11:g.152436012T>G	(Likely) benign	2 labs	6400158eae
6:24278344 DCDC2 T>C	6	24278344	24278344	T	C	DCDC2	c.855A>G	NM_016356.4	NP_057440.2:p.(Ser285=)	NC_000006.11:g.24278344T>C	(Likely) benign	2 labs	64018e7ea9
X:18622881 CDKL5 A>T	X	18622881	18622881	A	T	CDKL5	c.1837A>T	NM_001323289.2	NP_001310218.1:p.(Met613Leu)	NC_000023.10:g.18622881A>T	VUS	2 labs	64009e6270
11:5248232 HBB T>A	11	5248232	5248232	T	A	HBB	c.20A>T	NM_000518.5	NP_000509.1:p.(Glu7Val)	NC_000011.9:g.5248232T>A	(Likely) pathogenic	5 labs	6406bae59a
X:70351463 MED12 C>T	X	70351463	70351463	C	T	MED12	c.4111C>T	NM_005120.2	NP_005111.2:p.(Pro1371Ser)	NC_000023.10:g.70351463C>T	(Likely) benign	3 labs	64032349a0
1:241669391 FH G>A	1	241669391	241669391	G	A	FH	c.816C>T	NM_000143.3	NP_000134.2:p.(Leu272=)	NC_000001.10:g.241669391G>A	(Likely) benign	2 labs	640aeed245
3:123452836 MYLK G>A	3	123452836	123452836	G	A	MYLK	c.1007C>T	NM_053025.4	NP_444253.3:p.(Pro336Leu)	NC_000003.11:g.123452836G>A	(Likely) benign	4 labs	64030e25c3
9:139906990 ABCA2 C>T	9	139906990	139906990	C	T	ABCA2	c.5224G>A	NM_212533.3	NP_997698.1:p.(Gly1742Ser)	NC_000009.11:g.139906990C>T	VUS	3 labs	641a3a6859
16:75662488 KARS1 G>A	16	75662488	75662488	G	A	KARS1	c.1758C>T	NM_001130089.2	NP_001123561.1:p.(Leu586=)	NC_000016.9:g.75662488G>A	(Likely) benign	3 labs	640efa483c
X:152958938 SLC6A8 C>T	X	152958938	152958938	C	T	SLC6A8	c.1038C>T	NM_005629.4	NP_005620.1:p.(Leu346=)	NC_000023.10:g.152958938C>T	(Likely) benign	2 labs	f42d7ea239
19:7712143 STXBP2 C>T	19	7712143	7712143	C	T	STXBP2	c.1571+10C>T	NM_001272034.1	NP_001258963.1:p.?	NC_000019.9:g.7712143C>T	(Likely) benign	2 labs	64296ce3ad
7:21775369 DNAH11 G>A	7	21775369	21775369	G	A	DNAH11				NC_000007.13:g.21775369G>A	(Likely) benign	2 labs	6437004152
X:148579679 IDS C>T	X	148579679	148579679	C	T	IDS	c.667G>A	NM_000202.7	NP_000193.1:p.(Val223Ile)	NC_000023.10:g.148579679C>T	(Likely) benign	2 labs	643b70fabb
9:139391738 NOTCH1 G>A	9	139391738	139391738	G	A	NOTCH1	c.6453C>T	NM_017617.5	NP_060087.3:p.(Pro2151=)	NC_000009.11:g.139391738G>A	(Likely) benign	2 labs	643ec48326
12:7053285 C12orf57 A>G	12	7053285	7053285	A	G	C12orf57	c.1A>G	NM_138425.3	NP_612434.1:p.(Met1?)	NC_000012.11:g.7053285A>G	(Likely) pathogenic	2 labs	64407d3af3
20:61990939 CHRNA4 G>A	20	61990939	61990939	G	A	CHRNA4	c.189C>T	NM_000744.7	NP_000735.1:p.(Leu63=)	NC_000020.10:g.61990939G>A	(Likely) benign	2 labs	f432a62d9d
14:103371923 TRAF3 C>T	14	103371923	103371923	C	T	TRAF3	c.1509C>T	NM_145725.2	NP_663777.1:p.(Ser503=)	NC_000014.8:g.103371923C>T	(Likely) benign	2 labs	64432417d4
10:73544708 CDH23 C>T	10	73544708	73544708	C	T	CDH23	c.5563C>T	NM_022124.5	NP_071407.4:p.(Pro1855Ser)	NC_000010.10:g.73544708C>T	VUS	2 labs	644683300a
2:179579062 TTN G>A	2	179579062	179579062	G	A	TTN	c.26439C>T	NM_001267550.2	NP_001254479.2:p.(Asn8813=)	NC_000002.11:g.179579062G>A	(Likely) benign	6 labs	6454834476
19:45855524 ERCC2 G>A	19	45855524	45855524	G	A	ERCC2	c.2133C>T	NM_000400.4	NP_000391.1:p.(Asp711=)	NC_000019.9:g.45855524G>A	(Likely) benign	2 labs	f432c30bf0
7:92730687 SAMD9 C>T	7	92730687	92730687	C	T	SAMD9	c.4724G>A	NM_017654.4	NP_060124.2:p.(Gly1575Glu)	NC_000007.13:g.92730687C>T	VUS	2 labs	6463532416
17:78082504 GAA G>A	17	78082504	78082504	G	A	GAA	c.1203G>A	NM_000152.5	NP_000143.2:p.(Gln401=)	NC_000017.10:g.78082504G>A	(Likely) benign	3 labs	f43873986a
11:17517232 USH1C T>C	11	17517232	17517232	T	C	USH1C	c.2547-8A>G	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17517232T>C	(Likely) benign	2 labs	645f85b744
16:2138096 TSC2 C>T	16	2138096	2138096	C	T	TSC2	c.5116C>T	NM_000548.3	NP_000539.2:p.(Arg1706Cys)	NC_000016.9:g.2138096C>T	VUS	2 labs	646517403e
6:129470136 LAMA2 G>A	6	129470136	129470136	G	A	LAMA2	c.922G>A	NM_000426.3	NP_000417.2:p.(Glu308Lys)	NC_000006.11:g.129470136G>A	VUS	2 labs	6469d75b87
10:72192750 NODAL C>T	10	72192750	72192750	C	T	NODAL	c.986G>A	NM_018055.4	NP_060525.3:p.(Gly329Asp)	NC_000010.10:g.72192750C>T	VUS	2 labs	646e7a9a53
17:40481662 STAT3 G>C	17	40481662	40481662	G	C	STAT3	c.1143C>G	NM_139276.2	NP_644805.1:p.(Ser381=)	NC_000017.10:g.40481662G>C	(Likely) benign	2 labs	6477536372
7:94039607 COL1A2 C>G	7	94039607	94039607	C	G	COL1A2	c.1089C>G	NM_000089.4	NP_000080.2:p.(Pro363=)	NC_000007.13:g.94039607C>G	(Likely) benign	2 labs	648f5dfefd
21:46875959 COL18A1 G>A	21	46875959	46875959	G	A	COL18A1	c.515G>A	NM_030582.4	NP_085059.2:p.(Arg172His)	NC_000021.8:g.46875959G>A	(Likely) benign	2 labs	64934376ec
18:44159643 LOXHD1 G>A	18	44159643	44159643	G	A	LOXHD1	c.1759C>T	NM_144612.6	NP_653213.6:p.(Arg587Trp)	NC_000018.9:g.44159643G>A	VUS	2 labs	6493588a91
18:77456009 CTDP1 C>T	18	77456009	77456009	C	T	CTDP1	c.431C>T	NM_004715.4	NP_004706.3:p.(Pro144Leu)	NC_000018.9:g.77456009C>T	VUS	2 labs	64966fadf7
12:116445398 MED13L T>G	12	116445398	116445398	T	G	MED13L	c.2056A>C	NM_015335.4	NP_056150.1:p.(Lys686Gln)	NC_000012.11:g.116445398T>G	(Likely) benign	2 labs	6498b72552
14:68274253 ZFYVE26 C>T	14	68274253	68274253	C	T	ZFYVE26	c.748G>A	NM_015346.3	NP_056161.2:p.(Glu250Lys)	NC_000014.8:g.68274253C>T	(Likely) benign	2 labs	64a13c4864
17:29508819 NF1 A>AT	17	29508819	29508835	A	AT	NF1	c.730+32dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508835dup	(Likely) benign	4 labs	64a2d61a54
14:23884842 MYH7 G>A	14	23884842	23884842	G	A	MYH7	c.5153C>T	NM_000257.2	NP_000248.2:p.(Ser1718Phe)	NC_000014.8:g.23884842G>A	VUS	2 labs	64a960f4e1
1:247587201 NLRP3 A>G	1	247587201	247587201	A	G	NLRP3	c.450A>G	NM_001243133.1	NP_001230062.1:p.(Glu150=)	NC_000001.10:g.247587201A>G	(Likely) benign	2 labs	64aa6ec5b2
10:27318285 ANKRD26 A>G	10	27318285	27318285	A	G	ANKRD26	c.3808T>C	NM_014915.3	NP_055730.2:p.(Leu1270=)	NC_000010.10:g.27318285A>G	(Likely) benign	2 labs	64ad5731f4
17:41219665 BRCA1 ATTAG>A	17	41219665	41219672	ATTAG	A	BRCA1	c.5030_5033del	NM_007294.4	NP_009225.1:p.(Thr1677IlefsTer2)	NC_000017.10:g.41219669_41219672del	(Likely) pathogenic	3 labs	64bfa5998b
9:133942515 LAMC3 C>T	9	133942515	133942515	C	T	LAMC3	c.2516C>T	NM_006059.3	NP_006050.3:p.(Thr839Met)	NC_000009.11:g.133942515C>T	(Likely) benign	2 labs	64b50947d4
13:110829086 COL4A1 A>G	13	110829086	110829086	A	G	COL4A1	c.2870-15T>C	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110829086A>G	(Likely) benign	2 labs	64b639df30
1:22211836 HSPG2 T>G	1	22211836	22211836	T	G	HSPG2	c.1187A>C	NM_001291860.1	NP_001278789.1:p.(Asp396Ala)	NC_000001.10:g.22211836T>G	VUS	2 labs	64bb1ea3ea
20:10389277 MKKS T>C	20	10389277	10389277	T	C	MKKS	c.1160A>G	NM_018848.3	NP_061336.1:p.(Lys387Arg)	NC_000020.10:g.10389277T>C	VUS	3 labs	64bb871222
7:117180229 CFTR CT>C	7	117180229	117180232	CT	C	CFTR	c.948del	NM_000492.4	NP_000483.3:p.(Phe316LeufsTer12)	NC_000007.13:g.117180232del	(Likely) pathogenic	2 labs	64c362986f
X:10535359 MID1 C>T	X	10535359	10535359	C	T	MID1	c.229G>A	NM_000381.4	NP_000372.1:p.(Val77Ile)	NC_000023.10:g.10535359C>T	(Likely) benign	3 labs	64d56ec68c
1:158637704 SPTA1 C>T	1	158637704	158637704	C	T	SPTA1	c.1982G>A	NM_003126.3	NP_003117.2:p.(Arg661His)	NC_000001.10:g.158637704C>T	(Likely) benign	2 labs	64dba26310
2:179424245 TTN C>T	2	179424245	179424245	C	T	TTN	c.86614G>A	NM_001267550.2	NP_001254479.2:p.(Asp28872Asn)	NC_000002.11:g.179424245C>T	VUS	2 labs	64de340784
5:13914743 DNAH5 A>T	5	13914743	13914743	A	T	DNAH5	c.1206T>A	NM_001369.2	NP_001360.1:p.(Asn402Lys)	NC_000005.9:g.13914743A>T	(Likely) benign	2 labs	64e582b149
22:50965683 TYMP C>T	22	50965683	50965683	C	T	TYMP	c.676G>A	NM_001113756.2	NP_001107228.1:p.(Gly226Arg)	NC_000022.10:g.50965683C>T	(Likely) benign	2 labs	64e5bd3968
16:2152561 PKD1 C>T	16	2152561	2152561	C	T	PKD1	c.9022G>A	NM_001009944.2	NP_001009944.2:p.(Val3008Met)	NC_000016.9:g.2152561C>T	(Likely) benign	2 labs	64ebaee320
4:57797230 REST C>T	4	57797230	57797230	C	T	REST	c.2206C>T	NM_005612.5	NP_005603.3:p.(Pro736Ser)	NC_000004.11:g.57797230C>T	(Likely) benign	2 labs	64e9eb6beb
1:94476377 ABCA4 C>T	1	94476377	94476377	C	T	ABCA4	c.5693G>A	NM_000350.3	NP_000341.2:p.(Arg1898His)	NC_000001.10:g.94476377C>T	VUS	5 labs	650225c92d
6:76624538 MYO6 G>A	6	76624538	76624538	G	A	MYO6	c.3667G>A	NM_004999.3	NP_004990.3:p.(Asp1223Asn)	NC_000006.11:g.76624538G>A	(Likely) benign	3 labs	650bd8fecb
15:44949354 SPG11 C>T	15	44949354	44949354	C	T	SPG11	c.808G>A	NM_025137.4	NP_079413.3:p.(Val270Ile)	NC_000015.9:g.44949354C>T	(Likely) benign	4 labs	f45a9ac3aa
6:129612764 LAMA2 C>T	6	129612764	129612764	C	T	LAMA2	c.2755C>T	NM_000426.3	NP_000417.2:p.(Arg919Cys)	NC_000006.11:g.129612764C>T	VUS	2 labs	651b688f17
14:23886133 MYH7 G>C	14	23886133	23886133	G	C	MYH7	c.4588C>G	NM_000257.4	NP_000248.2:p.(Arg1530Gly)	NC_000014.8:g.23886133G>C	VUS	2 labs	f45bfb15f6
19:55677886 DNAAF3 C>A	19	55677886	55677886	C	A	DNAAF3	c.131G>T	NM_001256714.1	NP_001243643.1:p.(Trp44Leu)	NC_000019.9:g.55677886C>A	(Likely) benign	2 labs	652ceda58e
12:113354535 OAS1 G>A	12	113354535	113354535	G	A	OAS1	c.876G>A	NM_016816.3	NP_058132.2:p.(Thr292=)	NC_000012.11:g.113354535G>A	(Likely) benign	2 labs	652ea8ab3f
11:65307219 LTBP3 T>C	11	65307219	65307219	T	C	LTBP3	c.3519A>G	NM_001130144.3	NP_001123616.1:p.(Gln1173=)	NC_000011.9:g.65307219T>C	(Likely) benign	2 labs	652fb4ba29
X:49087440 CACNA1F C>T	X	49087440	49087440	C	T	CACNA1F	c.393G>A	NM_005183.4	NP_005174.2:p.(Glu131=)	NC_000023.10:g.49087440C>T	(Likely) benign	2 labs	65306d850a
18:19321528 MIB1 C>T	18	19321528	19321528	C	T	MIB1	c.-17C>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19321528C>T	(Likely) benign	2 labs	f46b337990
17:29684364 NF1 GT>G	17	29684364	29684367	GT	G	NF1	c.7950del	NM_001042492.3	NP_001035957.1:p.(Val2653SerfsTer26)	NC_000017.10:g.29684367del	(Likely) pathogenic	2 labs	65389bc936
X:148568612 IDS G>A	X	148568612	148568612	G	A	IDS	c.1024C>T	NM_000202.8	NP_000193.1:p.(His342Tyr)	NC_000023.10:g.148568612G>A	(Likely) pathogenic	2 labs	65397ee5ef
15:77324683 PSTPIP1 C>T	15	77324683	77324683	C	T	PSTPIP1	c.759C>T	NM_001321136.1	NP_001308065.1:p.(Asp253=)	NC_000015.9:g.77324683C>T	(Likely) benign	2 labs	65433890a3
11:47354905 MYBPC3 T>C	11	47354905	47354905	T	C	MYBPC3	c.3191-21A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354905T>C	(Likely) benign	2 labs	654ea177d6
5:1260582 TERT T>C	5	1260582	1260582	T	C	TERT	c.2970+7A>G	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1260582T>C	(Likely) benign	2 labs	6554fa222a
1:12445407 VPS13D A>T	1	12445407	12445407	A	T	VPS13D	c.11459A>T	NM_015378.4	NP_056193.2:p.(Asn3820Ile)	NC_000001.10:g.12445407A>T	VUS	2 labs	655ad42253
15:77310807 PSTPIP1 G>A	15	77310807	77310807	G	A	PSTPIP1	c.120G>A	NM_001321136.1	NP_001308065.1:p.(Ala40=)	NC_000015.9:g.77310807G>A	(Likely) benign	2 labs	655fda2282
X:20227510 RPS6KA3 T>C	X	20227510	20227510	T	C	RPS6KA3	c.139A>G	NM_004586.2	NP_004577.1:p.(Ile47Val)	NC_000023.10:g.20227510T>C	(Likely) benign	2 labs	656d64ebe0
X:152958538 SLC6A8 G>A	X	152958538	152958538	G	A	SLC6A8	c.820G>A	NM_005629.4	NP_005620.1:p.(Val274Met)	NC_000023.10:g.152958538G>A	VUS	2 labs	65781fd0b2
15:58838038 LIPC C>G	15	58838038	58838038	C	G	LIPC	c.672C>G	NM_000236.3	NP_000227.2:p.(Thr224=)	NC_000015.9:g.58838038C>G	(Likely) benign	2 labs	f4703d2394
11:118366991 KMT2A G>A	11	118366991	118366991	G	A	KMT2A	c.5573G>A	NM_001197104.2	NP_001184033.1:p.(Arg1858Gln)	NC_000011.9:g.118366991G>A	(Likely) benign	2 labs	f4706d8e5c
10:89621948 KLLN G>C	10	89621948	89621948	G	C	KLLN	c.297C>G	NM_001126049.1	NP_001119521.1:p.(Cys99Trp)	NC_000010.10:g.89621948G>C	(Likely) benign	2 labs	657aa6013c
15:89398357 ACAN C>T	15	89398357	89398357	C	T	ACAN	c.2541C>T	NM_013227.3	NP_037359.3:p.(Pro847=)	NC_000015.9:g.89398357C>T	(Likely) benign	2 labs	657d942dae
X:39932085 BCOR G>T	X	39932085	39932085	G	T	BCOR	c.2514C>A	NM_001123385.1	NP_001116857.1:p.(Pro838=)	NC_000023.10:g.39932085G>T	(Likely) benign	2 labs	6581857ef3
12:112940006 PTPN11 C>T	12	112940006	112940006	C	T	PTPN11	c.1658C>T	NM_002834.3	NP_002825.3:p.(Thr553Met)	NC_000012.11:g.112940006C>T	(Likely) benign	3 labs	6588a1530c
5:169129397 DOCK2 T>C	5	169129397	169129397	T	C	DOCK2	c.1349T>C	NM_004946.3	NP_004937.1:p.(Met450Thr)	NC_000005.9:g.169129397T>C	(Likely) benign	2 labs	658dc2f757
X:2712636 XG C>T	X	2712636	2712636	C	T	XG	c.314C>T	NM_001141919.2	NP_001135391.1:p.(Pro105Leu)	NC_000023.10:g.2712636C>T	(Likely) benign	2 labs	658e0aa3f0
2:179637933 TTN T>C	2	179637933	179637933	T	C	TTN	c.7758A>G	NM_001267550.2	NP_001254479.2:p.(Ile2586Met)	NC_000002.11:g.179637933T>C	VUS	2 labs	6590742e30
21:46924437 COL18A1 CCCCCCA>C	21	46924437	46924443	CCCCCCA	C	COL18A1	c.2836_2841del	NM_001379500.1	NP_001366429.1:p.(Pro946_Pro947del)	NC_000021.8:g.46924438_46924443del	(Likely) benign	2 labs	65b62bf66f
11:6412870 SMPD1 G>C	11	6412870	6412870	G	C	SMPD1	c.575G>C	NM_001318087.1	NP_001305016.1:p.(Ser192Thr)	NC_000011.9:g.6412870G>C	(Likely) benign	2 labs	65ad01024d
13:25480954 CPAP C>T	13	25480954	25480954	C	T	CPAP	c.1222G>A	NM_018451.4	NP_060921.3:p.(Glu408Lys)	NC_000013.10:g.25480954C>T	VUS	2 labs	65b16ea94f
20:57430000 GNAS C>A	20	57430000	57430000	C	A	GNAS	c.1493C>A	NM_001077490.2	NP_001070958.1:p.(Ala498Asp)	NC_000020.10:g.57430000C>A	VUS	2 labs	65b418a949
15:43897499 STRC T>C	15	43897499	43897499	T	C	STRC	c.3893A>G	NM_153700.2	NP_714544.1:p.(His1298Arg)	NC_000015.9:g.43897499T>C	(Likely) benign	2 labs	f479ab5ff2
9:370244 DOCK8 A>G	9	370244	370244	A	G	DOCK8	c.1812A>G	NM_203447.4	NP_982272.2:p.(Lys604=)	NC_000009.11:g.370244A>G	(Likely) benign	2 labs	f47bc0ed83
2:179629461 TTN C>T	2	179629461	179629461	C	T	TTN	c.9781G>A	NM_001267550.2	NP_001254479.2:p.(Val3261Met)	NC_000002.11:g.179629461C>T	(Likely) benign	4 labs	f47e1f0832
2:202575717 ALS2 T>C	2	202575717	202575717	T	C	ALS2	c.4119A>G	NM_020919.4	NP_065970.2:p.(Ile1373Met)	NC_000002.11:g.202575717T>C	(Likely) benign	3 labs	65b9b53828
5:68692375 RAD17 T>TAA	5	68692375	68692392	T	TAA	RAD17	c.1572+18_1572+19dup	NM_002873.1	NP_002864.1:p.?	NC_000005.9:g.68692391_68692392dup	(Likely) benign	2 labs	65ba80566f
16:30750116 SRCAP C>T	16	30750116	30750116	C	T	SRCAP	c.8755C>T	NM_006662.3	NP_006653.2:p.(Leu2919Phe)	NC_000016.9:g.30750116C>T	(Likely) benign	4 labs	65cca4581f
1:2337996 PEX10 C>T	1	2337996	2337996	C	T	PEX10	c.899G>A	NM_153818.1	NP_722540.1:p.(Arg300His)	NC_000001.10:g.2337996C>T	VUS	2 labs	65c25adfff
5:156675985 ITK G>A	5	156675985	156675985	G	A	ITK	c.1759G>A	NM_005546.3	NP_005537.3:p.(Val587Ile)	NC_000005.9:g.156675985G>A	(Likely) benign	2 labs	65ce7c9062
17:75369578 SEPTIN9 T>C	17	75369578	75369578	T	C	SEPTIN9	c.-2T>C	NM_001113493.2	NP_001106965.1:p.?	NC_000017.10:g.75369578T>C	(Likely) benign	2 labs	f4824682ab
17:10544634 MYH3 C>T	17	10544634	10544634	C	T	MYH3	c.2015G>A	NM_002470.3	NP_002461.2:p.(Arg672His)	NC_000017.10:g.10544634C>T	(Likely) pathogenic	2 labs	65d1a8b03e
16:50763760 NOD2 G>A	16	50763760	50763760	G	A	NOD2	c.2998G>A	NM_022162.1	NP_071445.1:p.(Ala1000Thr)	NC_000016.9:g.50763760G>A	VUS	2 labs	65d3d613b9
7:117292930 CFTR A>T	7	117292930	117292930	A	T	CFTR	c.3908A>T	NM_000492.4	NP_000483.3:p.(Asn1303Ile)	NC_000007.13:g.117292930A>T	(Likely) pathogenic	3 labs	f488487ddd
10:28233185 ODAD2 C>T	10	28233185	28233185	C	T	ODAD2	c.1709G>A	NM_001290020.2	NP_001276949.1:p.(Arg570Gln)	NC_000010.10:g.28233185C>T	VUS	2 labs	f48b1f450f
13:32893271 BRCA2 A>G	13	32893271	32893271	A	G	BRCA2	c.125A>G	NM_000059.4	NP_000050.3:p.(Tyr42Cys)	NC_000013.10:g.32893271A>G	(Likely) benign	7 labs	f48baf8ded
X:70361151 MED12 A>ACAGCAACACCAG	X	70361151	70361171	A	ACAGCAACACCAG	MED12	c.6348_6359dup	NM_005120.3	NP_005111.2:p.(His2116_Gln2119dup)	NC_000023.10:g.70361160_70361171dup	(Likely) benign	4 labs	65e1c97c7a
9:35094287 PIGO A>C	9	35094287	35094287	A	C	PIGO	c.581T>G	NM_032634.4	NP_116023.2:p.(Phe194Cys)	NC_000009.11:g.35094287A>C	VUS	3 labs	65e61aa59c
19:11319669 DOCK6 A>G	19	11319669	11319669	A	G	DOCK6	c.4862T>C	NM_020812.3	NP_065863.2:p.(Val1621Ala)	NC_000019.9:g.11319669A>G	(Likely) benign	2 labs	65e56f3bbc
3:11070965 SLC6A1 G>A	3	11070965	11070965	G	A	SLC6A1	c.1250G>A	NM_003042.4	NP_003033.3:p.(Arg417His)	NC_000003.11:g.11070965G>A	(Likely) benign	2 labs	f48e132e8e
6:129828658 LAMA2 G>A	6	129828658	129828658	G	A	LAMA2	c.8728G>A	NM_000426.3	NP_000417.2:p.(Val2910Ile)	NC_000006.11:g.129828658G>A	(Likely) benign	2 labs	65e91ffa45
4:187524750 FAT1 C>T	4	187524750	187524750	C	T	FAT1	c.10930G>A	NM_005245.3	NP_005236.2:p.(Ala3644Thr)	NC_000004.11:g.187524750C>T	(Likely) benign	2 labs	65ebb5e5c9
1:19439289 UBR4 G>C	1	19439289	19439289	G	C	UBR4	c.11530C>G	NM_020765.2	NP_065816.2:p.(Arg3844Gly)	NC_000001.10:g.19439289G>C	VUS	2 labs	6603089a5e
16:78466628 WWOX G>A	16	78466628	78466628	G	A	WWOX	c.1035G>A	NM_016373.3	NP_057457.1:p.(Ala345=)	NC_000016.9:g.78466628G>A	(Likely) benign	2 labs	6606691551
8:134292516 NDRG1 A>G	8	134292516	134292516	A	G	NDRG1	c.64-6T>C	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134292516A>G	(Likely) benign	2 labs	f49521c6e2
3:38593015 SCN5A G>A	3	38593015	38593015	G	A	SCN5A	c.4848C>T	NM_001099404.2	NP_001092874.1:p.(Phe1616=)	NC_000003.11:g.38593015G>A	(Likely) benign	4 labs	66084794ff
11:94197342 MRE11 G>A	11	94197342	94197342	G	A	MRE11	c.1162C>T	NM_005590.3	NP_005581.2:p.(Arg388Trp)	NC_000011.9:g.94197342G>A	VUS	2 labs	6609f7e210
6:39895263 MOCS1 C>T	6	39895263	39895263	C	T	MOCS1	c.55G>A	NM_005943.6	NP_005934.2:p.(Gly19Ser)	NC_000006.11:g.39895263C>T	(Likely) benign	2 labs	661a1ccd3d
16:2157984 PKD1 G>A	16	2157984	2157984	G	A	PKD1	c.6965C>T	NM_001009944.2	NP_001009944.2:p.(Thr2322Met)	NC_000016.9:g.2157984G>A	(Likely) benign	3 labs	66233e6359
5:90149952 ADGRV1 A>G	5	90149952	90149952	A	G	ADGRV1	c.17528A>G	NM_032119.4	NP_115495.3:p.(Tyr5843Cys)	NC_000005.9:g.90149952A>G	VUS	2 labs	662ac5a231
2:179467129 TTN A>G	2	179467129	179467129	A	G	TTN	c.55000T>C	NM_001267550.1	NP_001254479.1:p.(Cys18334Arg)	NC_000002.11:g.179467129A>G	VUS	2 labs	663626ae5a
21:34635572 IFNAR2 G>A	21	34635572	34635572	G	A	IFNAR2	c.1315G>A	NM_001289125.1	NP_001276054.1:p.(Asp439Asn)	NC_000021.8:g.34635572G>A	(Likely) benign	2 labs	663aefe3ab
X:73960146 NEXMIF G>A	X	73960146	73960146	G	A	NEXMIF	c.4246C>T	NM_001008537.3	NP_001008537.1:p.(Pro1416Ser)	NC_000023.10:g.73960146G>A	(Likely) benign	3 labs	f49845baf7
8:61769121 CHD7 C>T	8	61769121	61769121	C	T	CHD7				NC_000008.10:g.61769121C>T	(Likely) pathogenic	2 labs	876c1215b8
15:48764814 FBN1 G>C	15	48764814	48764814	G	C	FBN1	c.4270C>G	NM_000138.5	NP_000129.3:p.(Pro1424Ala)	NC_000015.9:g.48764814G>C	VUS	3 labs	664a8c0a4f
2:71887715 DYSF T>C	2	71887715	71887715	T	C	DYSF	c.4934T>C	NM_001130981.1	NP_001124453.1:p.(Ile1645Thr)	NC_000002.11:g.71887715T>C	(Likely) benign	3 labs	664b86bbef
1:228447462 OBSCN C>T	1	228447462	228447462	C	T	OBSCN	c.5122C>T	NM_001271223.2	NP_001258152.2:p.(Arg1708Cys)	NC_000001.10:g.228447462C>T	(Likely) benign	2 labs	664c4eb090
12:133338275 ANKLE2 G>C	12	133338275	133338275	G	C	ANKLE2	c.110C>G	NM_015114.2	NP_055929.1:p.(Pro37Arg)	NC_000012.11:g.133338275G>C	(Likely) benign	2 labs	6656669888
22:41533720 EP300 A>C	22	41533720	41533720	A	C	EP300	c.1686A>C	NM_001429.3	NP_001420.2:p.(Pro562=)	NC_000022.10:g.41533720A>C	(Likely) benign	2 labs	66585626f2
7:94257600 SGCE G>A	7	94257600	94257600	G	A	SGCE	c.304C>T	NM_003919.3	NP_003910.1:p.(Arg102Ter)	NC_000007.13:g.94257600G>A	(Likely) pathogenic	3 labs	f49c62b9f7
12:124399030 DNAH10 C>T	12	124399030	124399030	C	T	DNAH10	c.10153C>T	NM_207437.3	NP_997320.2:p.(Arg3385Trp)	NC_000012.11:g.124399030C>T	VUS	2 labs	f49d1e207f
1:150531616 ADAMTSL4 G>A	1	150531616	150531616	G	A	ADAMTSL4	c.2807G>A	NM_001288608.1	NP_001275537.1:p.(Arg936His)	NC_000001.10:g.150531616G>A	(Likely) benign	2 labs	665e6539d4
3:172165673 GHSR G>T	3	172165673	172165673	G	T	GHSR	c.531C>A	NM_198407.2	NP_940799.1:p.(Pro177=)	NC_000003.11:g.172165673G>T	(Likely) benign	2 labs	6661194d6d
5:89968474 ADGRV1 T>C	5	89968474	89968474	T	C	ADGRV1	c.4864T>C	NM_032119.4	NP_115495.3:p.(Tyr1622His)	NC_000005.9:g.89968474T>C	(Likely) benign	3 labs	66643c7147
2:71762217 DYSF A>G	2	71762217	71762217	A	G	DYSF	c.1444A>G	NM_001130981.1	NP_001124453.1:p.(Met482Val)	NC_000002.11:g.71762217A>G	(Likely) benign	2 labs	666bfbee99
X:605362 SHOX G>A	X	605362	605362	G	A	SHOX	c.870G>A	NM_000451.3	NP_000442.1:p.(Leu290=)	NC_000023.10:g.605362G>A	(Likely) benign	2 labs	666c71523e
10:88451705 LDB3 G>A	10	88451705	88451705	G	A	LDB3	c.601G>A	NM_001080116.1	NP_001073585.1:p.(Ala201Thr)	NC_000010.10:g.88451705G>A	VUS	3 labs	66732539cf
5:14487954 TRIO C>T	5	14487954	14487954	C	T	TRIO	c.7217C>T	NM_007118.3	NP_009049.2:p.(Ala2406Val)	NC_000005.9:g.14487954C>T	(Likely) benign	2 labs	666ea72051
12:49427108 KMT2D G>A	12	49427108	49427108	G	A	KMT2D	c.11380C>T	NM_003482.4	NP_003473.3:p.(Pro3794Ser)	NC_000012.11:g.49427108G>A	(Likely) benign	4 labs	66733dc1ed
21:47850107 PCNT G>A	21	47850107	47850107	G	A	PCNT	c.7874G>A	NM_006031.5	NP_006022.3:p.(Arg2625Gln)	NC_000021.8:g.47850107G>A	(Likely) benign	2 labs	66743d68fa
9:137707833 COL5A1 C>T	9	137707833	137707833	C	T	COL5A1	c.4121C>T	NM_000093.4	NP_000084.3:p.(Thr1374Met)	NC_000009.11:g.137707833C>T	VUS	2 labs	667a296b85
7:80302109 CD36 TG>T	7	80302109	80302110	TG	T	CD36	c.1150del	NM_001001548.3	NP_001001548.1:p.(Ala384GlnfsTer19)	NC_000007.13:g.80302110del	(Likely) pathogenic	2 labs	667a97413d
17:61555453 ACE G>T	17	61555453	61555453	G	T	ACE	c.411G>T	NM_000789.3	NP_000780.1:p.(Arg137=)	NC_000017.10:g.61555453G>T	(Likely) benign	2 labs	66830c1da8
3:38655307 SCN5A C>T	3	38655307	38655307	C	T	SCN5A	c.630G>A	NM_198056.3	NP_932173.1:p.(Val210=)	NC_000003.11:g.38655307C>T	(Likely) benign	5 labs	f4aa09012b
2:237123259 ASB18 C>T	2	237123259	237123259	C	T	ASB18	c.847G>A	NM_212556.3	NP_997721.2:p.(Gly283Arg)	NC_000002.11:g.237123259C>T	VUS	2 labs	6687c618a1
6:112537666 LAMA4 C>T	6	112537666	112537666	C	T	LAMA4	c.200G>A	NM_002290.5	NP_002281.3:p.(Cys67Tyr)	NC_000006.11:g.112537666C>T	VUS	3 labs	668e1ad75d
9:134388692 POMT1 C>T	9	134388692	134388692	C	T	POMT1	c.1215C>T	NM_007171.3	NP_009102.3:p.(His405=)	NC_000009.11:g.134388692C>T	(Likely) benign	2 labs	668f0cc3a4
1:236925803 ACTN2 G>C	1	236925803	236925803	G	C	ACTN2	c.2569G>C	NM_001103.4	NP_001094.1:p.(Asp857His)	NC_000001.10:g.236925803G>C	VUS	4 labs	f4b2bb649f
2:179458557 TTN A>T	2	179458557	179458557	A	T	TTN	c.58470T>A	NM_001267550.2	NP_001254479.2:p.(Asp19490Glu)	NC_000002.11:g.179458557A>T	VUS	2 labs	f4b45e4516
3:133476769 TF C>T	3	133476769	133476769	C	T	TF	c.895C>T	NM_001354703.2	NP_001341632.2:p.(Arg299Trp)	NC_000003.11:g.133476769C>T	VUS	2 labs	f4b48a95ed
20:62322188 RTEL1 G>T	20	62322188	62322188	G	T	RTEL1	c.2444G>T	NM_001283009.1	NP_001269938.1:p.(Ser815Ile)	NC_000020.10:g.62322188G>T	(Likely) benign	2 labs	669606ccf5
6:135715991 AHI1 G>C	6	135715991	135715991	G	C	AHI1	c.3032C>G	NM_001134831.2	NP_001128303.1:p.(Ser1011Ter)	NC_000006.11:g.135715991G>C	(Likely) pathogenic	2 labs	6690a0fb1a
15:48551421 SLC12A1 G>A	15	48551421	48551421	G	A	SLC12A1	c.2067G>A	NM_000338.2	NP_000329.2:p.(Gly689=)	NC_000015.9:g.48551421G>A	(Likely) benign	2 labs	6696d58a90
19:11327608 DOCK6 T>C	19	11327608	11327608	T	C	DOCK6	c.3876A>G	NM_020812.4	NP_065863.2:p.(Leu1292=)	NC_000019.9:g.11327608T>C	(Likely) benign	2 labs	f4b4f3b141
3:10088299 FANCD2 C>T	3	10088299	10088299	C	T	FANCD2	c.1170C>T	NM_033084.6	NP_149075.2:p.(Ser390=)	NC_000003.11:g.10088299C>T	(Likely) benign	2 labs	f4b787889c
22:17584454 IL17RA G>A	22	17584454	17584454	G	A	IL17RA	c.833G>A	NM_014339.6	NP_055154.3:p.(Arg278His)	NC_000022.10:g.17584454G>A	(Likely) benign	2 labs	66a45127b5
1:235972734 LYST G>A	1	235972734	235972734	G	A	LYST	c.1384C>T	NM_001301365.1	NP_001288294.1:p.(Pro462Ser)	NC_000001.10:g.235972734G>A	(Likely) benign	2 labs	66a50647d4
1:113616034 LRIG2 G>C	1	113616034	113616034	G	C	LRIG2	c.6G>C	NM_014813.2	NP_055628.1:p.(Ala2=)	NC_000001.10:g.113616034G>C	(Likely) benign	2 labs	66b4268e85
15:73023937 BBS4 T>C	15	73023937	73023937	T	C	BBS4	c.906T>C	NM_033028.5	NP_149017.2:p.(Phe302=)	NC_000015.9:g.73023937T>C	(Likely) benign	2 labs	66b937b069
1:94495005 ABCA4 G>A	1	94495005	94495005	G	A	ABCA4	c.4535C>T	NM_000350.2	NP_000341.2:p.(Pro1512Leu)	NC_000001.10:g.94495005G>A	VUS	2 labs	66bcfc6594
1:5964789 NPHP4 G>A	1	5964789	5964789	G	A	NPHP4	c.2031C>T	NM_015102.4	NP_055917.1:p.(Pro677=)	NC_000001.10:g.5964789G>A	(Likely) benign	2 labs	66be46f54c
2:179396995 TTN G>A	2	179396995	179396995	G	A	TTN	c.104347C>T	NM_001267550.2	NP_001254479.2:p.(Leu34783Phe)	NC_000002.11:g.179396995G>A	(Likely) benign	4 labs	66b654c7ff
X:19025475 ADGRG2 C>A	X	19025475	19025475	C	A	ADGRG2	c.1567G>T	NM_001079858.2	NP_001073327.1:p.(Asp523Tyr)	NC_000023.10:g.19025475C>A	VUS	2 labs	66c0ac79d4
7:44186128 GCK C>T	7	44186128	44186128	C	T	GCK	c.953G>A	NM_001354800.1	NP_001341729.1:p.(Gly318Glu)	NC_000007.13:g.44186128C>T	VUS	2 labs	66c0f121e3
21:45919761 TSPEAR C>T	21	45919761	45919761	C	T	TSPEAR	c.1915G>A	NM_144991.3	NP_659428.2:p.(Asp639Asn)	NC_000021.8:g.45919761C>T	VUS	2 labs	66c86966fd
2:26707412 OTOF C>T	2	26707412	26707412	C	T	OTOF	c.1135G>A	NM_194248.2	NP_919224.1:p.(Val379Met)	NC_000002.11:g.26707412C>T	VUS	2 labs	66ca7f5b1b
13:52524439 ATP7B G>A	13	52524439	52524439	G	A	ATP7B	c.2544C>T	NM_000053.4	NP_000044.2:p.(Gly848=)	NC_000013.10:g.52524439G>A	VUS	3 labs	66d21d8329
15:28419577 HERC2 G>A	15	28419577	28419577	G	A	HERC2	c.10021C>T	NM_004667.5	NP_004658.3:p.(Gln3341Ter)	NC_000015.9:g.28419577G>A	(Likely) pathogenic	4 labs	66daba2adb
7:87076396 ABCB4 G>A	7	87076396	87076396	G	A	ABCB4	c.959C>T	NM_000443.4	NP_000434.1:p.(Ser320Phe)	NC_000007.13:g.87076396G>A	(Likely) pathogenic	3 labs	66dac0b864
6:7581601 DSP C>A	6	7581601	7581601	C	A	DSP	c.5178C>A	NM_004415.4	NP_004406.2:p.(Asn1726Lys)	NC_000006.11:g.7581601C>A	(Likely) benign	3 labs	f4c2a148e1
9:98735109 ERCC6L2 G>C	9	98735109	98735109	G	C	ERCC6L2	c.3109G>C	NM_020207.4	NP_064592.2:p.(Val1037Leu)	NC_000009.11:g.98735109G>C	(Likely) benign	2 labs	66db58d5f9
7:117230494 CFTR G>A	7	117230494	117230494	G	A	CFTR	c.1766+1G>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117230494G>A	(Likely) pathogenic	3 labs	66e276e9fc
13:23915032 SACS C>A	13	23915032	23915032	C	A	SACS	c.2983G>T	NM_014363.5	NP_055178.3:p.(Val995Phe)	NC_000013.10:g.23915032C>A	(Likely) benign	2 labs	66e63da8ae
X:15607508 ACE2 G>A	X	15607508	15607508	G	A	ACE2	c.655C>T	NM_021804.2	NP_068576.1:p.(Arg219Cys)	NC_000023.10:g.15607508G>A	VUS	2 labs	66e8b33174
9:2192727 SMARCA2 G>A	9	2192727	2192727	G	A	SMARCA2	c.4761G>A	NM_003070.4	NP_003061.3:p.(Thr1587=)	NC_000009.11:g.2192727G>A	(Likely) benign	2 labs	66f0748564
14:102452405 DYNC1H1 G>A	14	102452405	102452405	G	A	DYNC1H1	c.1843G>A	NM_001376.4	NP_001367.2:p.(Asp615Asn)	NC_000014.8:g.102452405G>A	VUS	2 labs	66f0ce97fd
11:76916669 MYO7A C>T	11	76916669	76916669	C	T	MYO7A	c.5636+7C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76916669C>T	(Likely) benign	2 labs	66f256743b
2:44102302 ABCG8 G>A	2	44102302	44102302	G	A	ABCG8	c.1506G>A	NM_022437.3	NP_071882.1:p.(Pro502=)	NC_000002.11:g.44102302G>A	(Likely) benign	3 labs	66fd0fec39
12:31256839 DDX11 G>A	12	31256839	31256839	G	A	DDX11	c.2785G>A	NM_152438.1	NP_689651.1:p.(Val929Met)	NC_000012.11:g.31256839G>A	(Likely) benign	2 labs	670122d3e3
3:52383001 DNAH1 G>A	3	52383001	52383001	G	A	DNAH1	c.2204G>A	NM_015512.4	NP_056327.4:p.(Ser735Asn)	NC_000003.11:g.52383001G>A	(Likely) benign	2 labs	6702547149
2:110920683 NPHP1 C>T	2	110920683	110920683	C	T	NPHP1	c.969G>A	NM_000272.3	NP_000263.2:p.(Thr323=)	NC_000002.11:g.110920683C>T	(Likely) benign	2 labs	67044fdc3a
1:2985810 PRDM16 C>A	1	2985810	2985810	C	A	PRDM16	c.-14C>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.2985810C>A	(Likely) benign	2 labs	f4d3544c71
1:22987744 C1QB C>T	1	22987744	22987744	C	T	C1QB	c.627C>T	NM_000491.3	NP_000482.3:p.(Thr209=)	NC_000001.10:g.22987744C>T	(Likely) benign	2 labs	670e77960f
1:186007176 HMCN1 AC>A	1	186007176	186007177	AC	A	HMCN1	c.5851+10del	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186007177del	(Likely) benign	2 labs	6701da8264
19:55671337 DNAAF3 C>T	19	55671337	55671337	C	T	DNAAF3	c.931=	NM_001256716.2	NP_001243645.1:p.(Asn311=)	NC_000019.9:g.55671337C>T	(Likely) benign	2 labs	671697ec3a
14:91739150 CCDC88C G>A	14	91739150	91739150	G	A	CCDC88C	c.5906C>T	NM_001080414.3	NP_001073883.2:p.(Pro1969Leu)	NC_000014.8:g.91739150G>A	(Likely) benign	2 labs	6722e40a85
2:179621349 TTN T>G	2	179621349	179621349	T	G	TTN	c.10854A>C	NM_001267550.2	NP_001254479.2:p.(Gln3618His)	NC_000002.11:g.179621349T>G	(Likely) benign	5 labs	6716a1997e
11:78369348 TENM4 G>A	11	78369348	78369348	G	A	TENM4	c.8065C>T	NM_001098816.2	NP_001092286.2:p.(Arg2689Trp)	NC_000011.9:g.78369348G>A	VUS	2 labs	6726816231
X:70627910 TAF1 C>A	X	70627910	70627910	C	A	TAF1	c.4293C>A	NM_004606.5	NP_004597.3:p.(Leu1431=)	NC_000023.10:g.70627910C>A	(Likely) benign	2 labs	673209f480
1:3732862 CEP104 C>A	1	3732862	3732862	C	A	CEP104	c.2644G>T	NM_014704.3	NP_055519.1:p.(Ala882Ser)	NC_000001.10:g.3732862C>A	(Likely) benign	2 labs	673637e3e0
17:73825036 UNC13D C>G	17	73825036	73825036	C	G	UNC13D	c.2983G>C	NM_199242.3	NP_954712.1:p.(Ala995Pro)	NC_000017.10:g.73825036C>G	(Likely) benign	3 labs	6742353d28
2:145187363 ZEB2 T>A	2	145187363	145187363	T	A	ZEB2	c.304A>T	NM_014795.3	NP_055610.1:p.(Ile102Phe)	NC_000002.11:g.145187363T>A	(Likely) benign	2 labs	6754602371
4:6290800 WFS1 G>A	4	6290800	6290800	G	A	WFS1	c.402G>A	NM_006005.3	NP_005996.2:p.(Ala134=)	NC_000004.11:g.6290800G>A	(Likely) benign	2 labs	67592dd050
11:118210617 CD3D G>T	11	118210617	118210617	G	T	CD3D	c.279C>A	NM_000732.4	NP_000723.1:p.(Cys93Ter)	NC_000011.9:g.118210617G>T	(Likely) pathogenic	2 labs	6760e838b2
9:135804266 TSC1 G>A	9	135804266	135804266	G	A	TSC1	c.-7C>T	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135804266G>A	(Likely) benign	2 labs	676823ef39
1:235897831 LYST G>A	1	235897831	235897831	G	A	LYST	c.8487C>T	NM_001301365.1	NP_001288294.1:p.(Ile2829=)	NC_000001.10:g.235897831G>A	(Likely) benign	2 labs	6761a767a5
9:14789071 FREM1 G>C	9	14789071	14789071	G	C	FREM1	c.4023C>G	NM_144966.5	NP_659403.4:p.(Cys1341Trp)	NC_000009.11:g.14789071G>C	VUS	2 labs	676b6b57ce
7:117282526 CFTR G>A	7	117282526	117282526	G	A	CFTR	c.3752G>A	NM_000492.4	NP_000483.3:p.(Ser1251Asn)	NC_000007.13:g.117282526G>A	(Likely) pathogenic	3 labs	676bdab714
1:44071953 PTPRF C>T	1	44071953	44071953	C	T	PTPRF	c.3526C>T	NM_002840.4	NP_002831.2:p.(Arg1176Trp)	NC_000001.10:g.44071953C>T	VUS	2 labs	676ecac2f1
20:42745022 JPH2 C>T	20	42745022	42745022	C	T	JPH2	c.1293G>A	NM_020433.4	NP_065166.2:p.(Pro431=)	NC_000020.10:g.42745022C>T	(Likely) benign	2 labs	6770a45176
18:28672070 DSC2 T>C	18	28672070	28672070	T	C	DSC2	c.348A>G	NM_004949.5	NP_004940.1:p.(Gln116=)	NC_000018.9:g.28672070T>C	(Likely) benign	3 labs	677338a1b5
1:196883678 CFHR4 C>A	1	196883678	196883678	C	A	CFHR4	c.1234C>A	NM_001201550.3	NP_001188479.1:p.(Arg412=)	NC_000001.10:g.196883678C>A	(Likely) benign	3 labs	6776ded027
11:6415215 SMPD1 C>T	11	6415215	6415215	C	T	SMPD1	c.509C>T	NM_001318088.1	NP_001305017.1:p.(Pro170Leu)	NC_000011.9:g.6415215C>T	VUS	2 labs	678c9aa91d
6:51935838 PKHD1 C>T	6	51935838	51935838	C	T	PKHD1	c.633G>A	NM_138694.3	NP_619639.3:p.(Gly211=)	NC_000006.11:g.51935838C>T	(Likely) benign	2 labs	678e7be335
15:63908854 HERC1 G>A	15	63908854	63908854	G	A	HERC1	c.13716C>T	NM_003922.3	NP_003913.3:p.(Leu4572=)	NC_000015.9:g.63908854G>A	(Likely) benign	2 labs	679356f207
18:57115306 CCBE1 G>GA	18	57115306	57115307	G	GA	CCBE1	c.683_684insT	NM_133459.4	NP_597716.1:p.(Leu229ProfsTer8)	NC_000018.9:g.57115306_57115307insA	(Likely) pathogenic	5 labs	f4e2fced87
9:140128085 SLC34A3 T>C	9	140128085	140128085	T	C	SLC34A3	c.757T>C	NM_001177317.1	NP_001170788.1:p.(Leu253=)	NC_000009.11:g.140128085T>C	(Likely) benign	4 labs	679ad1a2cd
12:13722957 GRIN2B C>T	12	13722957	13722957	C	T	GRIN2B	c.2172-6G>A	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13722957C>T	(Likely) benign	2 labs	679d403132
14:23892819 MYH7 G>A	14	23892819	23892819	G	A	MYH7	c.3036C>T	NM_000257.4	NP_000248.2:p.(Ala1012=)	NC_000014.8:g.23892819G>A	(Likely) benign	5 labs	f4e57b53cd
6:7585995 DSP C>T	6	7585995	7585995	C	T	DSP	c.8500C>T	NM_004415.4	NP_004406.2:p.(Arg2834Cys)	NC_000006.11:g.7585995C>T	VUS	4 labs	f4e61c111a
1:196952162 CFHR5 G>A	1	196952162	196952162	G	A	CFHR5	c.206G>A	NM_030787.3	NP_110414.1:p.(Arg69His)	NC_000001.10:g.196952162G>A	(Likely) benign	2 labs	67adbff555
11:108202176 ATM C>T	11	108202176	108202176	C	T	ATM	c.7521C>T	NM_001351834.2	NP_001338763.1:p.(Asp2507=)	NC_000011.9:g.108202176C>T	(Likely) benign	4 labs	f4e8e6cd47
4:16000117 PROM1 A>G	4	16000117	16000117	A	G	PROM1	c.1579-6T>C	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.16000117A>G	(Likely) benign	2 labs	67ad10b320
14:24626618 RNF31 G>A	14	24626618	24626618	G	A	RNF31	c.2608+5G>A	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24626618G>A	VUS	2 labs	67be3a2a06
4:15512865 CC2D2A G>A	4	15512865	15512865	G	A	CC2D2A	c.541-5G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15512865G>A	(Likely) benign	2 labs	67bed98d66
10:61946556 ANK3 C>T	10	61946556	61946556	C	T	ANK3	c.2002G>A	NM_020987.5	NP_066267.2:p.(Val668Ile)	NC_000010.10:g.61946556C>T	VUS	2 labs	67c10b3ee3
12:102056256 MYBPC1 G>A	12	102056256	102056256	G	A	MYBPC1	c.2153G>A	NM_002465.4	NP_002456.2:p.(Arg718His)	NC_000012.11:g.102056256G>A	VUS	3 labs	67c36adab5
1:47746678 STIL G>C	1	47746678	47746678	G	C	STIL	c.1452C>G	NM_001048166.1	NP_001041631.1:p.(Ser484=)	NC_000001.10:g.47746678G>C	(Likely) benign	2 labs	67d026d1de
15:74483206 STRA6 G>A	15	74483206	74483206	G	A	STRA6	c.902C>T	NM_022369.4	NP_071764.3:p.(Thr301Ile)	NC_000015.9:g.74483206G>A	VUS	3 labs	67df36b209
6:138202173 TNFAIP3 G>A	6	138202173	138202173	G	A	TNFAIP3	c.2090G>A	NM_001270507.1	NP_001257436.1:p.(Arg697Lys)	NC_000006.11:g.138202173G>A	(Likely) benign	2 labs	67e66f45b8
14:55310842 GCH1 G>A	14	55310842	55310842	G	A	GCH1	c.646C>T	NM_000161.2	NP_000152.1:p.(Arg216Ter)	NC_000014.8:g.55310842G>A	(Likely) pathogenic	3 labs	67e6c8de06
7:143048771 CLCN1 C>T	7	143048771	143048771	C	T	CLCN1	c.2680C>T	NM_000083.2	NP_000074.2:p.(Arg894Ter)	NC_000007.13:g.143048771C>T	(Likely) pathogenic	2 labs	67e6e243a4
9:101980707 ALG2 A>G	9	101980707	101980707	A	G	ALG2	c.760T>C	NM_033087.3	NP_149078.1:p.(Leu254=)	NC_000009.11:g.101980707A>G	(Likely) benign	2 labs	67eab0dc5f
13:23907909 SACS A>G	13	23907909	23907909	A	G	SACS	c.10106T>C	NM_014363.5	NP_055178.3:p.(Val3369Ala)	NC_000013.10:g.23907909A>G	(Likely) benign	2 labs	67f0970322
4:84205782 COQ2 G>A	4	84205782	84205782	G	A	COQ2	c.286C>T	NM_015697.8	NP_056512.5:p.(Pro96Ser)	NC_000004.11:g.84205782G>A	(Likely) benign	2 labs	6800852487
3:129249839 RHO G>A	3	129249839	129249839	G	A	RHO	c.482G>A	NM_000539.3	NP_000530.1:p.(Trp161Ter)	NC_000003.11:g.129249839G>A	(Likely) pathogenic	2 labs	6809b623da
X:38146455 RPGR A>AT	X	38146455	38146458	A	AT	RPGR	c.1796dup	NM_001034853.1	NP_001030025.1:p.(Asn599LysfsTer12)	NC_000023.10:g.38146458dup	(Likely) pathogenic	2 labs	681bf52d4e
4:5747001 EVC C>CT	4	5747001	5747002	C	CT	EVC	c.873dup	NM_153717.2	NP_714928.1:p.(Glu292Ter)	NC_000004.11:g.5747002dup	(Likely) pathogenic	3 labs	682118cc5c
X:99662302 PCDH19 T>C	X	99662302	99662302	T	C	PCDH19	c.1294A>G	NM_001184880.2	NP_001171809.1:p.(Met432Val)	NC_000023.10:g.99662302T>C	(Likely) benign	3 labs	682c2dd881
19:33892708 PEPD C>T	19	33892708	33892708	C	T	PEPD	c.886G>A	NM_000285.3	NP_000276.2:p.(Gly296Ser)	NC_000019.9:g.33892708C>T	VUS	2 labs	6831e901d7
10:72360563 PRF1 C>T	10	72360563	72360563	C	T	PRF1	c.96G>A	NM_001083116.1	NP_001076585.1:p.(Lys32=)	NC_000010.10:g.72360563C>T	(Likely) benign	2 labs	6834bf3ffd
13:40298637 COG6 TTA>T	13	40298637	40298639	TTA	T	COG6	c.1693-7_1693-6del	NM_001145079.2	NP_001138551.1:p.?	NC_000013.10:g.40298638_40298639del	(Likely) benign	2 labs	683ad19fe2
8:145013583 PLEC C>T	8	145013583	145013583	C	T	PLEC	c.47G>A	NM_201384.2	NP_958786.1:p.(Arg16Gln)	NC_000008.10:g.145013583C>T	(Likely) benign	2 labs	68416dbee6
9:108358869 FKTN G>A	9	108358869	108358869	G	A	FKTN	c.106-10G>A	NM_001079802.1	NP_001073270.1:p.?	NC_000009.11:g.108358869G>A	(Likely) benign	3 labs	68425251aa
18:44087504 LOXHD1 G>A	18	44087504	44087504	G	A	LOXHD1	c.5503C>T	NM_144612.6	NP_653213.6:p.(Leu1835=)	NC_000018.9:g.44087504G>A	(Likely) benign	2 labs	684344f8d0
1:216348635 USH2A T>A	1	216348635	216348635	T	A	USH2A	c.4586A>T	NM_206933.4	NP_996816.3:p.(Lys1529Ile)	NC_000001.10:g.216348635T>A	VUS	2 labs	683f98ab68
16:2161154 PKD1 G>A	16	2161154	2161154	G	A	PKD1	c.4014C>T	NM_001009944.2	NP_001009944.2:p.(Thr1338=)	NC_000016.9:g.2161154G>A	(Likely) benign	2 labs	684cf960c2
16:88788058 PIEZO1 T>G	16	88788058	88788058	T	G	PIEZO1	c.5291A>C	NM_001142864.4	NP_001136336.2:p.(Glu1764Ala)	NC_000016.9:g.88788058T>G	VUS	2 labs	68501df41e
X:153006092 ABCD1 C>T	X	153006092	153006092	C	T	ABCD1	c.1699C>T	NM_000033.3	NP_000024.2:p.(Gln567Ter)	NC_000023.10:g.153006092C>T	VUS	2 labs	6856135482
5:223624 SDHA C>T	5	223624	223624	C	T	SDHA	c.91C>T	NM_004168.4	NP_004159.2:p.(Arg31Ter)	NC_000005.9:g.223624C>T	(Likely) pathogenic	5 labs	f5045f7719
7:128481296 FLNC G>A	7	128481296	128481296	G	A	FLNC	c.1886G>A	NM_001458.4	NP_001449.3:p.(Arg629Gln)	NC_000007.13:g.128481296G>A	VUS	2 labs	685d311049
11:2418039 CD81 C>T	11	2418039	2418039	C	T	CD81	c.654C>T	NM_004356.3	NP_004347.1:p.(Phe218=)	NC_000011.9:g.2418039C>T	(Likely) benign	2 labs	685d446bf9
19:42853829 MEGF8 G>A	19	42853829	42853829	G	A	MEGF8	c.2477G>A	NM_001271938.2	NP_001258867.1:p.(Arg826Gln)	NC_000019.9:g.42853829G>A	VUS	2 labs	686502d027
5:42718928 GHR G>T	5	42718928	42718928	G	T	GHR	c.1319G>T	NM_000163.4	NP_000154.1:p.(Cys440Phe)	NC_000005.9:g.42718928G>T	(Likely) benign	2 labs	6865493931
3:49759379 GMPPB G>C	3	49759379	49759379	G	C	GMPPB	c.970C>G	NM_013334.3	NP_037466.2:p.(Leu324Val)	NC_000003.11:g.49759379G>C	(Likely) benign	2 labs	686c4dfb72
22:42564607 TCF20 C>T	22	42564607	42564607	C	T	TCF20	c.*44+8G>A	NM_005650.3	NP_005641.1:p.?	NC_000022.10:g.42564607C>T	(Likely) benign	2 labs	687096ef8d
9:124083642 GSN C>T	9	124083642	124083642	C	T	GSN	c.1288C>T	NM_001353053.1	NP_001339982.1:p.(Arg430Cys)	NC_000009.11:g.124083642C>T	(Likely) benign	3 labs	687535633d
13:31821256 B3GLCT C>G	13	31821256	31821256	C	G	B3GLCT	c.347+20C>G	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31821256C>G	(Likely) benign	2 labs	f514104b9d
18:32418752 DTNA C>T	18	32418752	32418752	C	T	DTNA	c.1216C>T	NM_001390.4	NP_001381.2:p.(His406Tyr)	NC_000018.9:g.32418752C>T	(Likely) benign	2 labs	687ea3c29e
8:48877154 MCM4 C>T	8	48877154	48877154	C	T	MCM4	c.714C>T	NM_005914.4	NP_005905.2:p.(Asp238=)	NC_000008.10:g.48877154C>T	(Likely) benign	2 labs	687f7d1d15
16:2160508 PKD1 TGAC>T	16	2160508	2160516	TGAC	T	PKD1	c.4657_4659del	NM_001009944.3	NP_001009944.3:p.(Val1553del)	NC_000016.9:g.2160514_2160516del	VUS	4 labs	687fe78885
21:44486404 CBS C>T	21	44486404	44486404	C	T	CBS	c.85G>A	NM_001321072.1	NP_001308001.1:p.(Gly29Arg)	NC_000021.8:g.44486404C>T	VUS	2 labs	688a043fb7
5:112176325 APC G>A	5	112176325	112176325	G	A	APC	c.5034G>A	NM_000038.6	NP_000029.2:p.(Gly1678=)	NC_000005.9:g.112176325G>A	(Likely) benign	3 labs	f515a0956d
12:88483027 CEP290 G>A	12	88483027	88483027	G	A	CEP290	c.3811C>T	NM_025114.4	NP_079390.3:p.(Arg1271Ter)	NC_000012.11:g.88483027G>A	(Likely) pathogenic	2 labs	f517852151
9:77454973 TRPM6 C>T	9	77454973	77454973	C	T	TRPM6	c.511G>A	NM_017662.5	NP_060132.3:p.(Gly171Arg)	NC_000009.11:g.77454973C>T	(Likely) benign	2 labs	6889d7180d
1:40776934 COL9A2 T>C	1	40776934	40776934	T	C	COL9A2	c.544A>G	NM_001852.4	NP_001843.1:p.(Met182Val)	NC_000001.10:g.40776934T>C	(Likely) benign	2 labs	6899cd3371
11:70049841 FADD T>G	11	70049841	70049841	T	G	FADD	c.276T>G	NM_003824.3	NP_003815.1:p.(Pro92=)	NC_000011.9:g.70049841T>G	(Likely) benign	2 labs	68a0daf458
4:6303543 WFS1 G>T	4	6303543	6303543	G	T	WFS1	c.2021G>T	NM_006005.3	NP_005996.2:p.(Gly674Val)	NC_000004.11:g.6303543G>T	(Likely) pathogenic	2 labs	68a188c2cc
14:23859400 MYH6 C>G	14	23859400	23859400	C	G	MYH6	c.3598G>C	NM_002471.4	NP_002462.2:p.(Asp1200His)	NC_000014.8:g.23859400C>G	VUS	2 labs	689e0a36bc
2:179603981 TTN G>A	2	179603981	179603981	G	A	TTN	c.13979C>T	NM_001267550.2	NP_001254479.2:p.(Thr4660Met)	NC_000002.11:g.179603981G>A	VUS	2 labs	68abd15c32
7:103191675 RELN G>A	7	103191675	103191675	G	A	RELN	c.6141C>T	NM_173054.2	NP_774959.1:p.(Phe2047=)	NC_000007.13:g.103191675G>A	(Likely) benign	2 labs	68a79b9bcb
4:79173616 FRAS1 C>G	4	79173616	79173616	C	G	FRAS1	c.380C>G	NM_025074.7	NP_079350.5:p.(Pro127Arg)	NC_000004.11:g.79173616C>G	(Likely) benign	3 labs	68ab2fa583
5:42700044 GHR A>G	5	42700044	42700044	A	G	GHR	c.558A>G	NM_001242400.2	NP_001229329.1:p.(Gly186=)	NC_000005.9:g.42700044A>G	(Likely) benign	2 labs	68abd307f2
7:128480660 FLNC G>A	7	128480660	128480660	G	A	FLNC	c.1608G>A	NM_001458.4	NP_001449.3:p.(Glu536=)	NC_000007.13:g.128480660G>A	(Likely) benign	2 labs	68add91ad4
19:45208871 CEACAM16 C>T	19	45208871	45208871	C	T	CEACAM16	c.673C>T	NM_001039213.4	NP_001034302.2:p.(Arg225Cys)	NC_000019.9:g.45208871C>T	VUS	2 labs	68b235e521
19:54314003 NLRP12 G>A	19	54314003	54314003	G	A	NLRP12	c.910C>T	NM_001277126.1	NP_001264055.1:p.(His304Tyr)	NC_000019.9:g.54314003G>A	(Likely) benign	2 labs	68b38d8547
11:68542776 CPT1A G>A	11	68542776	68542776	G	A	CPT1A	c.1575+8C>T	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68542776G>A	(Likely) benign	2 labs	68b4edd2fe
6:65596671 EYS T>C	6	65596671	65596671	T	C	EYS	c.2911A>G	NM_001292009.1	NP_001278938.1:p.(Lys971Glu)	NC_000006.11:g.65596671T>C	(Likely) benign	2 labs	68ba61c95a
9:14824830 FREM1 G>A	9	14824830	14824830	G	A	FREM1	c.2042C>T	NM_144966.5	NP_659403.4:p.(Thr681Ile)	NC_000009.11:g.14824830G>A	VUS	2 labs	68ba9d2777
12:88505468 CEP290 C>G	12	88505468	88505468	C	G	CEP290	c.2217+3G>C	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88505468C>G	VUS	2 labs	68c474ad40
5:1201921 SLC6A19 C>T	5	1201921	1201921	C	T	SLC6A19	c.156C>T	NM_001003841.3	NP_001003841.1:p.(Leu52=)	NC_000005.9:g.1201921C>T	(Likely) benign	2 labs	68c94024ac
9:6553445 GLDC C>T	9	6553445	6553445	C	T	GLDC	c.2380G>A	NM_000170.2	NP_000161.2:p.(Ala794Thr)	NC_000009.11:g.6553445C>T	(Likely) benign	2 labs	68cddaad12
7:21757461 DNAH11 A>G	7	21757461	21757461	A	G	DNAH11				NC_000007.13:g.21757461A>G	VUS	2 labs	68d345bfc3
13:110815856 COL4A1 G>A	13	110815856	110815856	G	A	COL4A1	c.4203C>T	NM_001845.5	NP_001836.3:p.(Asp1401=)	NC_000013.10:g.110815856G>A	(Likely) benign	2 labs	68d39cc406
2:191850338 STAT1 C>T	2	191850338	191850338	C	T	STAT1	c.1263+7G>A	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191850338C>T	(Likely) benign	3 labs	68d567781e
16:2150171 PKD1 G>A	16	2150171	2150171	G	A	PKD1	c.9708C>T	NM_001009944.2	NP_001009944.2:p.(Ala3236=)	NC_000016.9:g.2150171G>A	(Likely) benign	2 labs	68d8d01d74
16:56531770 BBS2 A>G	16	56531770	56531770	A	G	BBS2	c.1682T>C	NM_031885.3	NP_114091.3:p.(Ile561Thr)	NC_000016.9:g.56531770A>G	VUS	2 labs	68da0238e9
15:31198043 FAN1 A>G	15	31198043	31198043	A	G	FAN1	c.1177A>G	NM_014967.4	NP_055782.3:p.(Met393Val)	NC_000015.9:g.31198043A>G	(Likely) benign	2 labs	68dbd412f6
6:112486397 LAMA4 G>A	6	112486397	112486397	G	A	LAMA4	c.1633C>T	NM_001105206.3	NP_001098676.2:p.(Arg545Cys)	NC_000006.11:g.112486397G>A	(Likely) benign	6 labs	f528460947
17:73753142 ITGB4 C>T	17	73753142	73753142	C	T	ITGB4	c.5172C>T	NM_000213.4	NP_000204.3:p.(Phe1724=)	NC_000017.10:g.73753142C>T	(Likely) benign	2 labs	68e085e75f
8:41792353 KAT6A G>A	8	41792353	41792353	G	A	KAT6A	c.3385C>T	NM_006766.4	NP_006757.2:p.(Arg1129Ter)	NC_000008.10:g.41792353G>A	(Likely) pathogenic	2 labs	68e886f8c0
2:179494976 TTN C>T	2	179494976	179494976	C	T	TTN	c.44273G>A	NM_001267550.2	NP_001254479.2:p.(Arg14758Gln)	NC_000002.11:g.179494976C>T	VUS	3 labs	68e1f5553e
10:75873920 VCL C>G	10	75873920	75873920	C	G	VCL	c.2950-22C>G	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75873920C>G	(Likely) benign	3 labs	68ea93d310
4:187510355 FAT1 T>G	4	187510355	187510355	T	G	FAT1	c.13158A>C	NM_005245.3	NP_005236.2:p.(Ser4386=)	NC_000004.11:g.187510355T>G	(Likely) benign	2 labs	68ef8d4230
7:65426054 GUSB CA>C	7	65426054	65426068	CA	C	GUSB	c.1790-5del	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426068del	(Likely) benign	2 labs	68effd35a5
7:151478464 PRKAG2 G>T	7	151478464	151478464	G	T	PRKAG2	c.240C>A	NM_016203.4	NP_057287.2:p.(Gly80=)	NC_000007.13:g.151478464G>T	(Likely) benign	3 labs	68e9a31dc9
14:23885046 MYH7 G>A	14	23885046	23885046	G	A	MYH7	c.4954-5C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885046G>A	(Likely) benign	3 labs	f52cfac3cf
13:20763233 GJB2 A>C	13	20763233	20763233	A	C	GJB2	c.488T>G	NM_004004.6	NP_003995.2:p.(Met163Arg)	NC_000013.10:g.20763233A>C	VUS	2 labs	68f9c0b8da
3:133667773 SLCO2A1 C>G	3	133667773	133667773	C	G	SLCO2A1	c.904G>C	NM_005630.2	NP_005621.2:p.(Ala302Pro)	NC_000003.11:g.133667773C>G	(Likely) benign	2 labs	68fdc2f8bb
1:5965495 NPHP4 G>A	1	5965495	5965495	G	A	NPHP4	c.1812C>T	NM_015102.4	NP_055917.1:p.(Ser604=)	NC_000001.10:g.5965495G>A	(Likely) benign	2 labs	68ff49290b
2:203332392 BMPR2 CT>C	2	203332392	203332393	CT	C	BMPR2	c.399del	NM_001204.7	NP_001195.2:p.(Pro134LeufsTer18)	NC_000002.11:g.203332393del	(Likely) pathogenic	2 labs	6902bbb38f
11:22284590 ANO5 G>A	11	22284590	22284590	G	A	ANO5	c.1898+1G>A	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22284590G>A	(Likely) pathogenic	6 labs	f52f06d095
1:183532436 NCF2 C>T	1	183532436	183532436	C	T	NCF2	c.1184G>A	NM_000433.3	NP_000424.2:p.(Arg395Gln)	NC_000001.10:g.183532436C>T	(Likely) benign	2 labs	690e0c124c
5:149759198 TCOF1 C>T	5	149759198	149759198	C	T	TCOF1	c.2762C>T	NM_001135243.1	NP_001128715.1:p.(Pro921Leu)	NC_000005.9:g.149759198C>T	(Likely) benign	2 labs	690eb30732
15:28362149 HERC2 A>C	15	28362149	28362149	A	C	HERC2	c.13414+10T>G	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28362149A>C	(Likely) benign	2 labs	691920380a
17:78086421 GAA G>A	17	78086421	78086421	G	A	GAA	c.1799G>A	NM_000152.3	NP_000143.2:p.(Arg600His)	NC_000017.10:g.78086421G>A	(Likely) pathogenic	2 labs	6921022559
11:4107750 STIM1 A>G	11	4107750	4107750	A	G	STIM1	c.1518A>G	NM_001277961.1	NP_001264890.1:p.(Pro506=)	NC_000011.9:g.4107750A>G	(Likely) benign	2 labs	69241efde4
19:55673654 DNAAF3 T>C	19	55673654	55673654	T	C	DNAAF3	c.531A>G	NM_001256714.1	NP_001243643.1:p.(Arg177=)	NC_000019.9:g.55673654T>C	(Likely) benign	2 labs	692c79139d
8:27327432 CHRNA2 G>A	8	27327432	27327432	G	A	CHRNA2	c.140C>T	NM_000742.4	NP_000733.2:p.(Thr47Met)	NC_000008.10:g.27327432G>A	(Likely) benign	4 labs	692d739f3f
2:191854331 STAT1 G>C	2	191854331	191854331	G	C	STAT1	c.1097+10C>G	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191854331G>C	(Likely) benign	2 labs	692dd80707
13:39262731 FREM2 T>C	13	39262731	39262731	T	C	FREM2	c.1250T>C	NM_207361.5	NP_997244.4:p.(Leu417Pro)	NC_000013.10:g.39262731T>C	(Likely) benign	2 labs	69338162ad
4:6302842 WFS1 C>T	4	6302842	6302842	C	T	WFS1	c.1320C>T	NM_006005.3	NP_005996.2:p.(Thr440=)	NC_000004.11:g.6302842C>T	(Likely) benign	2 labs	694262746a
X:47085263 CDK16 C>T	X	47085263	47085263	C	T	CDK16	c.745C>T	NM_033018.3	NP_148978.2:p.(Leu249=)	NC_000023.10:g.47085263C>T	(Likely) benign	2 labs	69439ea1e7
16:51173955 SALL1 C>T	16	51173955	51173955	C	T	SALL1	c.2178G>A	NM_002968.2	NP_002959.2:p.(Arg726=)	NC_000016.9:g.51173955C>T	(Likely) benign	2 labs	6948adbd75
4:126239849 FAT4 G>T	4	126239849	126239849	G	T	FAT4	c.2283G>T	NM_001291303.1	NP_001278232.1:p.(Leu761Phe)	NC_000004.11:g.126239849G>T	VUS	2 labs	69498fce3d
14:23886688 MYH7 CT>C	14	23886688	23886689	CT	C	MYH7	c.4353+23del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886689del	(Likely) benign	2 labs	694a634cd1
3:33107060 GLB1 A>G	3	33107060	33107060	A	G	GLB1	c.458-11T>C	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33107060A>G	(Likely) benign	3 labs	694b6daf31
X:102968730 TMEM31 C>A	X	102968730	102968730	C	A	TMEM31	c.311C>A	NM_182541.2	NP_872347.2:p.(Ala104Asp)	NC_000023.10:g.102968730C>A	(Likely) benign	2 labs	69508da1f4
18:28908281 DSG1 G>A	18	28908281	28908281	G	A	DSG1	c.346G>A	NM_001942.4	NP_001933.2:p.(Asp116Asn)	NC_000018.9:g.28908281G>A	VUS	2 labs	f538e62a79
4:106157539 TET2 C>T	4	106157539	106157539	C	T	TET2	c.2440C>T	NM_001127208.2	NP_001120680.1:p.(Arg814Cys)	NC_000004.11:g.106157539C>T	(Likely) benign	2 labs	6959adb647
22:37334376 CSF2RB G>A	22	37334376	37334376	G	A	CSF2RB	c.2526G>A	NM_000395.2	NP_000386.1:p.(Pro842=)	NC_000022.10:g.37334376G>A	(Likely) benign	2 labs	695f31d113
11:47372749 MYBPC3 C>G	11	47372749	47372749	C	G	MYBPC3	c.292+41G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372749C>G	(Likely) benign	2 labs	6964255e8b
2:166892788 SCN1A C>T	2	166892788	166892788	C	T	SCN1A	c.3199G>A	NM_001202435.3	NP_001189364.1:p.(Ala1067Thr)	NC_000002.11:g.166892788C>T	(Likely) benign	2 labs	f53dddc3ca
11:68527685 CPT1A G>A	11	68527685	68527685	G	A	CPT1A	c.2142+8C>T	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68527685G>A	(Likely) benign	2 labs	69672a40e1
2:202626391 ALS2 T>C	2	202626391	202626391	T	C	ALS2	c.326A>G	NM_020919.4	NP_065970.2:p.(Asn109Ser)	NC_000002.11:g.202626391T>C	(Likely) benign	2 labs	69657b9301
X:70613146 TAF1 C>T	X	70613146	70613146	C	T	TAF1	c.3052-5C>T	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70613146C>T	(Likely) benign	2 labs	696faa21ea
8:144990747 PLEC G>A	8	144990747	144990747	G	A	PLEC	c.13653C>T	NM_201380.3	NP_958782.1:p.(Arg4551=)	NC_000008.10:g.144990747G>A	(Likely) benign	2 labs	69716cf8c6
2:179434005 TTN T>C	2	179434005	179434005	T	C	TTN	c.76854A>G	NM_001267550.2	NP_001254479.2:p.(Val25618=)	NC_000002.11:g.179434005T>C	(Likely) benign	2 labs	697951495d
12:52200742 SCN8A C>A	12	52200742	52200742	C	A	SCN8A	c.5472C>A	NM_014191.4	NP_055006.1:p.(Pro1824=)	NC_000012.11:g.52200742C>A	(Likely) benign	4 labs	69795aff84
1:204378773 PPP1R15B CTTT>C	1	204378773	204378776	CTTT	C	PPP1R15B	c.1764_1766del	NM_032833.5	NP_116222.4:p.(Lys589del)	NC_000001.10:g.204378774_204378776del	VUS	2 labs	697e3900d0
17:29497003 NF1 C>T	17	29497003	29497003	C	T	NF1	c.574C>T	NM_000267.3	NP_000258.1:p.(Arg192Ter)	NC_000017.10:g.29497003C>T	(Likely) pathogenic	3 labs	6987f443ca
21:46897375 COL18A1 C>T	21	46897375	46897375	C	T	COL18A1	c.2224C>T	NM_130444.3	NP_569711.2:p.(Arg742Trp)	NC_000021.8:g.46897375C>T	VUS	2 labs	69899b83b8
14:23883009 MYH7 C>A	14	23883009	23883009	C	A	MYH7	c.5749G>T	NM_000257.2	NP_000248.2:p.(Val1917Phe)	NC_000014.8:g.23883009C>A	VUS	2 labs	698c9a2683
2:179422184 TTN C>T	2	179422184	179422184	C	T	TTN	c.87805G>A	NM_001267550.2	NP_001254479.2:p.(Val29269Ile)	NC_000002.11:g.179422184C>T	VUS	3 labs	699330cd96
5:67569315 PIK3R1 C>A	5	67569315	67569315	C	A	PIK3R1	c.427+5C>A	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67569315C>A	(Likely) benign	2 labs	699c43b3e0
22:23922221 IGLL1 C>A	22	23922221	23922221	C	A	IGLL1				NC_000022.10:g.23922221C>A	(Likely) pathogenic	2 labs	699d44de8b
13:39266541 FREM2 A>C	13	39266541	39266541	A	C	FREM2	c.5060A>C	NM_207361.5	NP_997244.4:p.(Glu1687Ala)	NC_000013.10:g.39266541A>C	VUS	2 labs	69a307f3cc
10:30629226 MTPAP G>A	10	30629226	30629226	G	A	MTPAP	c.484C>T	NM_018109.4	NP_060579.3:p.(Arg162Cys)	NC_000010.10:g.30629226G>A	(Likely) benign	3 labs	69aa14f917
4:123168372 BLTP1 G>A	4	123168372	123168372	G	A	BLTP1	c.5372G>A	NM_015312.3	NP_056127.2:p.(Arg1791Lys)	NC_000004.11:g.123168372G>A	(Likely) benign	2 labs	69a945f6d7
2:97427135 CNNM4 G>A	2	97427135	97427135	G	A	CNNM4	c.399G>A	NM_020184.4	NP_064569.3:p.(Val133=)	NC_000002.11:g.97427135G>A	(Likely) benign	2 labs	69a3437744
X:19560115 SH3KBP1 G>A	X	19560115	19560115	G	A	SH3KBP1	c.1820C>T	NM_031892.3	NP_114098.1:p.(Ala607Val)	NC_000023.10:g.19560115G>A	(Likely) benign	2 labs	69c8f576ef
14:104029378 COA8 C>A	14	104029378	104029378	C	A	COA8	c.79C>A	NM_032374.4	NP_115750.2:p.(Pro27Thr)	NC_000014.8:g.104029378C>A	(Likely) benign	2 labs	69c86c57ad
14:88852166 SPATA7 G>A	14	88852166	88852166	G	A	SPATA7	c.4G>A	NM_018418.5	NP_060888.2:p.(Asp2Asn)	NC_000014.8:g.88852166G>A	(Likely) benign	3 labs	69cf3570d1
7:94054509 COL1A2 C>T	7	94054509	94054509	C	T	COL1A2	c.2754C>T	NM_000089.4	NP_000080.2:p.(Asn918=)	NC_000007.13:g.94054509C>T	(Likely) benign	3 labs	69d56b4709
1:10397270 KIF1B A>G	1	10397270	10397270	A	G	KIF1B	c.3121+9A>G	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10397270A>G	(Likely) benign	3 labs	69d7ba69bc
X:25031516 ARX G>C	X	25031516	25031516	G	C	ARX	c.596C>G	NM_139058.2	NP_620689.1:p.(Thr199Arg)	NC_000023.10:g.25031516G>C	(Likely) benign	2 labs	69dbca4426
17:41234533 BRCA1 T>C	17	41234533	41234533	T	C	BRCA1	c.4245A>G	NM_007294.3	NP_009225.1:p.(Glu1415=)	NC_000017.10:g.41234533T>C	(Likely) benign	2 labs	69e4dc7122
16:20352526 UMOD G>A	16	20352526	20352526	G	A	UMOD	c.1563C>T	NM_001278614.1	NP_001265543.1:p.(Gly521=)	NC_000016.9:g.20352526G>A	(Likely) benign	2 labs	69e94300d4
16:343484 AXIN1 G>A	16	343484	343484	G	A	AXIN1	c.2186+4C>T	NM_003502.3	NP_003493.1:p.?	NC_000016.9:g.343484G>A	(Likely) benign	2 labs	69ea40c12d
14:102483120 DYNC1H1 A>G	14	102483120	102483120	A	G	DYNC1H1	c.7632A>G	NM_001376.5	NP_001367.2:p.(Glu2544=)	NC_000014.8:g.102483120A>G	(Likely) benign	2 labs	69e4bb2735
7:117227860 CFTR G>A	7	117227860	117227860	G	A	CFTR	c.1652G>A	NM_000492.4	NP_000483.3:p.(Gly551Asp)	NC_000007.13:g.117227860G>A	(Likely) pathogenic	3 labs	69ee086959
17:29556971 NF1 CAA>C	17	29556971	29556973	CAA	C	NF1	c.2970_2971del	NM_001042492.3	NP_001035957.1:p.(Met991AspfsTer29)	NC_000017.10:g.29556972_29556973del	(Likely) pathogenic	2 labs	69eb2a0424
3:53837510 CACNA1D C>T	3	53837510	53837510	C	T	CACNA1D	c.5556C>T	NM_000720.4	NP_000711.1:p.(Gly1852=)	NC_000003.11:g.53837510C>T	(Likely) benign	3 labs	69f1b354ac
1:160265582 COPA T>G	1	160265582	160265582	T	G	COPA	c.2420A>C	NM_004371.4	NP_004362.2:p.(Asn807Thr)	NC_000001.10:g.160265582T>G	(Likely) benign	2 labs	69f78a9eb7
4:1803629 FGFR3 C>T	4	1803629	1803629	C	T	FGFR3	c.807C>T	NM_000142.4	NP_000133.1:p.(Ser269=)	NC_000004.11:g.1803629C>T	(Likely) benign	2 labs	69fa45650c
7:796593 DNAAF5 G>A	7	796593	796593	G	A	DNAAF5	c.1432G>A	NM_017802.3	NP_060272.3:p.(Glu478Lys)	NC_000007.13:g.796593G>A	(Likely) benign	2 labs	69fae9aac8
4:15482360 CC2D2A C>T	4	15482360	15482360	C	T	CC2D2A	c.156C>T	NM_001080522.2	NP_001073991.2:p.(Ser52=)	NC_000004.11:g.15482360C>T	(Likely) benign	3 labs	6a01915457
2:109369884 RANBP2 A>G	2	109369884	109369884	A	G	RANBP2	c.1920A>G	NM_006267.4	NP_006258.3:p.(Ala640=)	NC_000002.11:g.109369884A>G	(Likely) benign	2 labs	6a0273002c
16:57493600 COQ9 G>A	16	57493600	57493600	G	A	COQ9	c.835G>A	NM_020312.3	NP_064708.1:p.(Asp279Asn)	NC_000016.9:g.57493600G>A	(Likely) benign	2 labs	6a05884d12
17:41245233 BRCA1 A>G	17	41245233	41245233	A	G	BRCA1	c.2315T>C	NM_007294.4	NP_009225.1:p.(Val772Ala)	NC_000017.10:g.41245233A>G	(Likely) benign	6 labs	6a0fd7d033
11:121008594 TECTA G>C	11	121008594	121008594	G	C	TECTA	c.3406G>C	NM_005422.2	NP_005413.2:p.(Asp1136His)	NC_000011.9:g.121008594G>C	VUS	2 labs	6a0f89eb59
6:138192667 TNFAIP3 T>C	6	138192667	138192667	T	C	TNFAIP3	c.295+8T>C	NM_001270508.2	NP_001257437.1:p.?	NC_000006.11:g.138192667T>C	(Likely) benign	2 labs	6a165d03c8
11:6630542 ILK C>T	11	6630542	6630542	C	T	ILK	c.631C>T	NM_001014795.3	NP_001014795.1:p.(Arg211Cys)	NC_000011.9:g.6630542C>T	(Likely) benign	3 labs	6a1aad36e4
6:138196008 TNFAIP3 A>G	6	138196008	138196008	A	G	TNFAIP3	c.322A>G	NM_001270507.1	NP_001257436.1:p.(Thr108Ala)	NC_000006.11:g.138196008A>G	(Likely) benign	2 labs	6a3143ede9
2:219747116 WNT10A T>C	2	219747116	219747116	T	C	WNT10A	c.347T>C	NM_025216.3	NP_079492.2:p.(Ile116Thr)	NC_000002.11:g.219747116T>C	VUS	2 labs	6a3b51e1ed
5:150715047 SLC36A2 G>A	5	150715047	150715047	G	A	SLC36A2	c.587C>T	NM_181776.2	NP_861441.2:p.(Thr196Ile)	NC_000005.9:g.150715047G>A	(Likely) benign	2 labs	6a37a0bd83
12:103246621 PAH C>A	12	103246621	103246621	C	A	PAH	c.814G>T	NM_000277.3	NP_000268.1:p.(Gly272Ter)	NC_000012.11:g.103246621C>A	(Likely) pathogenic	3 labs	6a428a3397
2:98907070 VWA3B G>A	2	98907070	98907070	G	A	VWA3B	c.3142G>A	NM_144992.5	NP_659429.4:p.(Gly1048Ser)	NC_000002.11:g.98907070G>A	VUS	3 labs	6a459d8620
18:28660211 DSC2 T>C	18	28660211	28660211	T	C	DSC2	c.1371A>G	NM_004949.5	NP_004940.1:p.(Thr457=)	NC_000018.9:g.28660211T>C	(Likely) benign	2 labs	6a4a5017ad
12:33021934 PKP2 A>G	12	33021934	33021934	A	G	PKP2	c.1097T>C	NM_004572.4	NP_004563.2:p.(Leu366Pro)	NC_000012.11:g.33021934A>G	(Likely) benign	5 labs	f56c733527
5:131939181 RAD50 G>C	5	131939181	131939181	G	C	RAD50	c.2397G>C	NM_005732.3	NP_005723.2:p.(Gln799His)	NC_000005.9:g.131939181G>C	VUS	2 labs	6a50521bfa
10:124271589 HTRA1 G>A	10	124271589	124271589	G	A	HTRA1	c.1274+8G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124271589G>A	(Likely) benign	2 labs	f56ff4cc41
9:100201520 TDRD7 A>T	9	100201520	100201520	A	T	TDRD7	c.564-7A>T	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100201520A>T	(Likely) benign	2 labs	6a609990d1
21:47831758 PCNT C>T	21	47831758	47831758	C	T	PCNT	c.5771C>T	NM_006031.5	NP_006022.3:p.(Ala1924Val)	NC_000021.8:g.47831758C>T	(Likely) benign	2 labs	6a63488b5c
2:227892728 COL4A4 T>TA	2	227892728	227892737	T	TA	COL4A4	c.3974-4dup	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227892737dup	(Likely) benign	3 labs	6a71256744
17:29553484 NF1 C>T	17	29553484	29553484	C	T	NF1	c.2033C>T	NM_000267.3	NP_000258.1:p.(Pro678Leu)	NC_000017.10:g.29553484C>T	(Likely) benign	2 labs	6a758ac40b
7:101840096 CUX1 A>G	7	101840096	101840096	A	G	CUX1	c.1438A>G	NM_001202543.1	NP_001189472.1:p.(Ser480Gly)	NC_000007.13:g.101840096A>G	(Likely) benign	2 labs	6a7ea6bf76
1:227153087 COQ8A C>T	1	227153087	227153087	C	T	COQ8A	c.564C>T	NM_020247.5	NP_064632.2:p.(Pro188=)	NC_000001.10:g.227153087C>T	(Likely) benign	2 labs	6a7fccc69e
10:16737156 RSU1 TG>T	10	16737156	16737166	TG	T	RSU1	c.599-3del	NM_012425.4	NP_036557.1:p.?	NC_000010.10:g.16737166del	(Likely) benign	2 labs	6a7fe52cc5
10:50678550 ERCC6 A>C	10	50678550	50678550	A	C	ERCC6	c.3456T>G	NM_000124.2	NP_000115.1:p.(Gly1152=)	NC_000010.10:g.50678550A>C	(Likely) benign	2 labs	6a82b98294
6:7571692 DSP A>G	6	7571692	7571692	A	G	DSP	c.1778A>G	NM_004415.4	NP_004406.2:p.(Asn593Ser)	NC_000006.11:g.7571692A>G	(Likely) benign	5 labs	6a87284f0d
19:39062775 RYR1 G>A	19	39062775	39062775	G	A	RYR1	c.13863G>A	NM_000540.3	NP_000531.2:p.(Glu4621=)	NC_000019.9:g.39062775G>A	(Likely) benign	3 labs	f5777ffac0
17:40714846 COASY C>T	17	40714846	40714846	C	T	COASY	c.206C>T	NM_025233.6	NP_079509.5:p.(Thr69Met)	NC_000017.10:g.40714846C>T	VUS	2 labs	6a901c092d
2:179436634 TTN C>T	2	179436634	179436634	C	T	TTN	c.74225G>A	NM_001267550.1	NP_001254479.1:p.(Arg24742His)	NC_000002.11:g.179436634C>T	VUS	2 labs	6a921b2401
19:7619907 PNPLA6 C>A	19	7619907	7619907	C	A	PNPLA6	c.2793C>A	NM_001166111.1	NP_001159583.1:p.(His931Gln)	NC_000019.9:g.7619907C>A	VUS	2 labs	6a9790da67
20:49551780 DPM1 T>A	20	49551780	49551780	T	A	DPM1	c.679-7A>T	NM_003859.2	NP_003850.1:p.?	NC_000020.10:g.49551780T>A	(Likely) benign	2 labs	6aa54a62c4
14:35872068 NFKBIA G>A	14	35872068	35872068	G	A	NFKBIA	c.548-3C>T	NM_020529.3	NP_065390.1:p.?	NC_000014.8:g.35872068G>A	(Likely) benign	2 labs	f58dd22200
16:27789047 KATNIP C>T	16	27789047	27789047	C	T	KATNIP	c.4668C>T	NM_015202.3	NP_056017.3:p.(Thr1556=)	NC_000016.9:g.27789047C>T	(Likely) benign	2 labs	6ac80f41ad
7:47971659 PKD1L1 T>C	7	47971659	47971659	T	C	PKD1L1	c.399-6A>G	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47971659T>C	(Likely) benign	2 labs	6acab66712
1:29542582 MECR G>A	1	29542582	29542582	G	A	MECR	c.113C>T	NM_001349712.1	NP_001336641.1:p.(Ala38Val)	NC_000001.10:g.29542582G>A	VUS	2 labs	6acbc4e6ff
9:133884820 LAMC3 T>G	9	133884820	133884820	T	G	LAMC3	c.219T>G	NM_006059.4	NP_006050.3:p.(His73Gln)	NC_000009.11:g.133884820T>G	(Likely) benign	2 labs	f590101ced
12:49444579 KMT2D AG>A	12	49444579	49444581	AG	A	KMT2D	c.2798-7del	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49444581del	(Likely) benign	2 labs	6ad46ef8db
12:124171538 TCTN2 C>G	12	124171538	124171538	C	G	TCTN2	c.720C>G	NM_024809.4	NP_079085.2:p.(Pro240=)	NC_000012.11:g.124171538C>G	(Likely) benign	2 labs	6ad5929f2f
13:23913079 SACS G>T	13	23913079	23913079	G	T	SACS	c.4936C>A	NM_014363.5	NP_055178.3:p.(Leu1646Met)	NC_000013.10:g.23913079G>T	VUS	2 labs	6ae5c0831b
1:17322751 ATP13A2 G>A	1	17322751	17322751	G	A	ATP13A2	c.1336C>T	NM_001141973.2	NP_001135445.1:p.(Arg446Trp)	NC_000001.10:g.17322751G>A	VUS	2 labs	6ae65e3c62
17:29556218 NF1 C>G	17	29556218	29556218	C	G	NF1	c.2585C>G	NM_000267.3	NP_000258.1:p.(Thr862Ser)	NC_000017.10:g.29556218C>G	VUS	2 labs	6aec43267f
15:64017494 HERC1 A>G	15	64017494	64017494	A	G	HERC1	c.3565T>C	NM_003922.3	NP_003913.3:p.(Leu1189=)	NC_000015.9:g.64017494A>G	(Likely) benign	2 labs	6af4bdea8d
19:15273381 NOTCH3 A>G	19	15273381	15273381	A	G	NOTCH3	c.5816-8T>C	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15273381A>G	(Likely) benign	3 labs	6afd54534c
9:139402404 NOTCH1 C>T	9	139402404	139402404	C	T	NOTCH1	c.3510+3G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139402404C>T	(Likely) benign	2 labs	6afffde20b
5:176718947 NSD1 A>T	5	176718947	176718947	A	T	NSD1	c.6259-8A>T	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176718947A>T	(Likely) benign	2 labs	6b059b4501
16:2105523 TSC2 A>G	16	2105523	2105523	A	G	TSC2	c.599+3A>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2105523A>G	VUS	2 labs	6b1742e5a3
1:94487251 ABCA4 G>T	1	94487251	94487251	G	T	ABCA4	c.4793C>A	NM_000350.3	NP_000341.2:p.(Ala1598Asp)	NC_000001.10:g.94487251G>T	(Likely) pathogenic	3 labs	6b1ad39cbd
17:72301432 DNAI2 A>G	17	72301432	72301432	A	G	DNAI2	c.1062A>G	NM_023036.6	NP_075462.3:p.(Glu354=)	NC_000017.10:g.72301432A>G	(Likely) benign	2 labs	6b1fb6903f
17:73830188 UNC13D C>T	17	73830188	73830188	C	T	UNC13D	c.2335G>A	NM_199242.2	NP_954712.1:p.(Val779Met)	NC_000017.10:g.73830188C>T	(Likely) benign	2 labs	6b21653453
6:33391270 SYNGAP1 T>C	6	33391270	33391270	T	C	SYNGAP1	c.84T>C	NM_006772.3	NP_006763.2:p.(Ser28=)	NC_000006.11:g.33391270T>C	(Likely) benign	2 labs	f5a21221df
15:51207680 AP4E1 T>C	15	51207680	51207680	T	C	AP4E1	c.33T>C	NM_001252127.1	NP_001239056.1:p.(Tyr11=)	NC_000015.9:g.51207680T>C	(Likely) benign	2 labs	6b32b8057d
6:170871037 TBP GCAA>G	6	170871037	170871042	GCAA	G	TBP	c.216_218del	NM_003194.5	NP_003185.1:p.(Gln95del)	NC_000006.11:g.170871040_170871042del	(Likely) benign	2 labs	6b39b0c965
12:111348980 MYL2 C>G	12	111348980	111348980	C	G	MYL2	c.403-1G>C	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111348980C>G	(Likely) pathogenic	6 labs	f5a610f94e
4:6303179 WFS1 G>A	4	6303179	6303179	G	A	WFS1	c.1657G>A	NM_006005.3	NP_005996.2:p.(Gly553Ser)	NC_000004.11:g.6303179G>A	(Likely) benign	2 labs	6b3e10f5a3
3:178937346 PIK3CA T>C	3	178937346	178937346	T	C	PIK3CA	c.1747-13T>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178937346T>C	(Likely) benign	2 labs	6b4ccc4530
19:45867575 ERCC2 C>T	19	45867575	45867575	C	T	ERCC2	c.733G>A	NM_000400.4	NP_000391.1:p.(Asp245Asn)	NC_000019.9:g.45867575C>T	VUS	3 labs	6b54ba0721
1:197108946 ASPM A>G	1	197108946	197108946	A	G	ASPM	c.1977T>C	NM_018136.4	NP_060606.3:p.(Ile659=)	NC_000001.10:g.197108946A>G	(Likely) benign	2 labs	6b5005fa72
14:58910784 KIAA0586 G>A	14	58910784	58910784	G	A	KIAA0586	c.698G>A	NM_001329943.2	NP_001316872.1:p.(Arg233Lys)	NC_000014.8:g.58910784G>A	(Likely) benign	2 labs	6b52def503
11:103175330 DYNC2H1 A>G	11	103175330	103175330	A	G	DYNC2H1	c.11284A>G	NM_001080463.1	NP_001073932.1:p.(Met3762Val)	NC_000011.9:g.103175330A>G	VUS	3 labs	6b55e1cbd4
2:163123842 IFIH1 G>A	2	163123842	163123842	G	A	IFIH1	c.2946C>T	NM_022168.4	NP_071451.2:p.(Leu982=)	NC_000002.11:g.163123842G>A	(Likely) benign	3 labs	6b58c860e4
13:32914065 BRCA2 CAATT>C	13	32914065	32914071	CAATT	C	BRCA2	c.5576_5579del	NM_000059.4	NP_000050.3:p.(Ile1859LysfsTer3)	NC_000013.10:g.32914068_32914071del	(Likely) pathogenic	4 labs	6b5f0c5675
10:90774166 FAS G>GAAAATTCAAACTTCAGAAAT	10	90774166	90774186	G	GAAAATTCAAACTTCAGAAAT	FAS	c.968_987dup	NM_000043.6	NP_000034.1:p.(Glu330LysfsTer38)	NC_000010.10:g.90774167_90774186dup	(Likely) pathogenic	2 labs	f5b8d1dd5d
16:2158489 PKD1 G>A	16	2158489	2158489	G	A	PKD1	c.6679C>T	NM_001009944.2	NP_001009944.2:p.(His2227Tyr)	NC_000016.9:g.2158489G>A	(Likely) benign	2 labs	6b6137d307
17:41246701 BRCA1 ATGAG>A	17	41246701	41246705	ATGAG	A	BRCA1	c.843_846del	NM_007294.4	NP_009225.1:p.(Ser282TyrfsTer15)	NC_000017.10:g.41246702_41246705del	(Likely) pathogenic	3 labs	6b62fd4666
12:120139483 CIT T>C	12	120139483	120139483	T	C	CIT	c.5488A>G	NM_001206999.1	NP_001193928.1:p.(Ile1830Val)	NC_000012.11:g.120139483T>C	VUS	2 labs	6b6a771514
14:23893976 MYH7 A>G	14	23893976	23893976	A	G	MYH7	c.2679+2T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23893976A>G	(Likely) pathogenic	2 labs	6b717e0010
2:191859935 STAT1 C>T	2	191859935	191859935	C	T	STAT1	c.796G>A	NM_007315.4	NP_009330.1:p.(Val266Ile)	NC_000002.11:g.191859935C>T	(Likely) benign	4 labs	6b850148bc
8:10470578 RP1L1 C>A	8	10470578	10470578	C	A	RP1L1	c.1030G>T	NM_178857.5	NP_849188.4:p.(Gly344Cys)	NC_000008.10:g.10470578C>A	VUS	2 labs	6b86c8aac9
4:1806119 FGFR3 G>A	4	1806119	1806119	G	A	FGFR3	c.1138G>A	NM_000142.5	NP_000133.1:p.(Gly380Arg)	NC_000004.11:g.1806119G>A	(Likely) pathogenic	5 labs	f5bc32f579
8:100865836 VPS13B G>A	8	100865836	100865836	G	A	VPS13B	c.10294G>A	NM_017890.4	NP_060360.3:p.(Gly3432Arg)	NC_000008.10:g.100865836G>A	(Likely) benign	3 labs	6b86fbffc8
11:76867950 MYO7A G>A	11	76867950	76867950	G	A	MYO7A	c.635G>A	NM_000260.3	NP_000251.3:p.(Arg212His)	NC_000011.9:g.76867950G>A	(Likely) pathogenic	3 labs	6b892c1749
12:88454594 CEP290 T>TA	12	88454594	88454602	T	TA	CEP290	c.6522+12dup	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88454602dup	(Likely) benign	2 labs	6b8edc4c2c
1:114443035 AP4B1 C>G	1	114443035	114443035	C	G	AP4B1	c.618-13G>C	NM_006594.5	NP_006585.2:p.?	NC_000001.10:g.114443035C>G	(Likely) benign	2 labs	f5bcc17a3c
17:61568344 ACE A>ATC	17	61568344	61568347	A	ATC	ACE	c.2673_2674dup	NM_000789.3	NP_000780.1:p.(Tyr892SerfsTer21)	NC_000017.10:g.61568346_61568347dup	(Likely) pathogenic	2 labs	6b9cbaa5df
6:112486383 LAMA4 T>G	6	112486383	112486383	T	G	LAMA4	c.1647A>C	NM_001105206.3	NP_001098676.2:p.(Ser549=)	NC_000006.11:g.112486383T>G	(Likely) benign	2 labs	6b9b4ecaa7
7:151848538 KMT2C G>C	7	151848538	151848538	G	C	KMT2C	c.12655C>G	NM_170606.2	NP_733751.2:p.(Leu4219Val)	NC_000007.13:g.151848538G>C	(Likely) benign	2 labs	6ba3d5c174
13:32912007 BRCA2 C>T	13	32912007	32912007	C	T	BRCA2	c.3515C>T	NM_000059.3	NP_000050.2:p.(Ser1172Leu)	NC_000013.10:g.32912007C>T	(Likely) benign	4 labs	6bb2847631
11:34167718 NAT10 G>GA	11	34167718	34167721	G	GA	NAT10	c.3060dup	NM_024662.2	NP_078938.2:p.(Leu1021ThrfsTer16)	NC_000011.9:g.34167721dup	VUS	2 labs	6bcbbf7d80
10:105792717 COL17A1 G>A	10	105792717	105792717	G	A	COL17A1	c.4304C>T	NM_000494.4	NP_000485.3:p.(Ala1435Val)	NC_000010.10:g.105792717G>A	(Likely) benign	2 labs	6bcd511ff6
10:69908203 MYPN T>C	10	69908203	69908203	T	C	MYPN	c.342T>C	NM_001256268.2	NP_001243197.1:p.(Pro114=)	NC_000010.10:g.69908203T>C	(Likely) benign	2 labs	f5d65cd3e5
20:47887159 ZNFX1 T>A	20	47887159	47887159	T	A	ZNFX1	c.1190A>T	NM_021035.3	NP_066363.1:p.(Asp397Val)	NC_000020.10:g.47887159T>A	VUS	2 labs	6c0e1ce12b
19:18273784 PIK3R2 G>A	19	18273784	18273784	G	A	PIK3R2	c.1117G>A	NM_005027.4	NP_005018.2:p.(Gly373Arg)	NC_000019.9:g.18273784G>A	(Likely) pathogenic	4 labs	6be2123782
1:12012721 PLOD1 G>A	1	12012721	12012721	G	A	PLOD1	c.649G>A	NM_001316320.1	NP_001303249.1:p.(Glu217Lys)	NC_000001.10:g.12012721G>A	(Likely) benign	2 labs	6be4eae0e6
7:151254316 PRKAG2 C>G	7	151254316	151254316	C	G	PRKAG2	c.1681G>C	NM_016203.4	NP_057287.2:p.(Ala561Pro)	NC_000007.13:g.151254316C>G	VUS	2 labs	f5d9236db0
11:76853748 MYO7A C>T	11	76853748	76853748	C	T	MYO7A	c.19-7C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76853748C>T	(Likely) benign	2 labs	6beb00c782
X:10176561 CLCN4 G>A	X	10176561	10176561	G	A	CLCN4	c.1320G>A	NM_001830.3	NP_001821.2:p.(Thr440=)	NC_000023.10:g.10176561G>A	(Likely) benign	2 labs	6bedbb61fa
X:77131012 MAGT1 C>T	X	77131012	77131012	C	T	MAGT1	c.281G>A	NM_032121.5	NP_115497.4:p.(Arg94His)	NC_000023.10:g.77131012C>T	VUS	2 labs	6bffd0ac6f
19:13366082 CACNA1A G>C	19	13366082	13366082	G	C	CACNA1A	c.4603-9C>G	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13366082G>C	(Likely) benign	2 labs	6c0096ae72
16:88891261 GALNS G>A	16	88891261	88891261	G	A	GALNS	c.1156C>T	NM_000512.5	NP_000503.1:p.(Arg386Cys)	NC_000016.9:g.88891261G>A	(Likely) pathogenic	2 labs	6c02c24d56
19:42492238 ATP1A3 T>A	19	42492238	42492238	T	A	ATP1A3	c.246A>T	NM_001256214.2	NP_001243143.1:p.(Ala82=)	NC_000019.9:g.42492238T>A	(Likely) benign	2 labs	6c124ca53f
1:237663995 RYR2 G>T	1	237663995	237663995	G	T	RYR2	c.2204-16G>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237663995G>T	(Likely) benign	3 labs	f5dad8fdce
2:50574047 NRXN1 G>A	2	50574047	50574047	G	A	NRXN1	c.41C>T	NM_001330092.1	NP_001317021.1:p.(Ser14Leu)	NC_000002.11:g.50574047G>A	VUS	2 labs	6c126d4c1d
15:90172792 KIF7 G>A	15	90172792	90172792	G	A	KIF7	c.3331C>T	NM_198525.2	NP_940927.2:p.(Arg1111Ter)	NC_000015.9:g.90172792G>A	(Likely) pathogenic	2 labs	6c141af625
1:43396545 SLC2A1 C>T	1	43396545	43396545	C	T	SLC2A1	c.276-8G>A	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43396545C>T	(Likely) benign	2 labs	6c1877773b
19:55453134 NLRP7 G>A	19	55453134	55453134	G	A	NLRP7	c.-39-16C>T	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55453134G>A	(Likely) benign	2 labs	f5df3252c7
X:129147531 BCORL1 G>A	X	129147531	129147531	G	A	BCORL1	c.783G>A	NM_001184772.2	NP_001171701.1:p.(Ala261=)	NC_000023.10:g.129147531G>A	(Likely) benign	2 labs	6c1f4b310d
22:29092948 CHEK2 G>A	22	29092948	29092948	G	A	CHEK2	c.1036C>T	NM_007194.4	NP_009125.1:p.(Arg346Cys)	NC_000022.10:g.29092948G>A	(Likely) pathogenic	4 labs	f5dff59eee
22:19748695 TBX1 TGAA>T	22	19748695	19748704	TGAA	T	TBX1	c.336_338del	NM_001379200.1	NP_001366129.1:p.(Lys112del)	NC_000022.10:g.19748702_19748704del	(Likely) benign	2 labs	6c3b6fab94
1:43896743 SZT2 C>T	1	43896743	43896743	C	T	SZT2	c.4898C>T	NM_001365999.1	NP_001352928.1:p.(Ser1633Leu)	NC_000001.10:g.43896743C>T	(Likely) benign	2 labs	6c427f890f
5:56177443 MAP3K1 G>A	5	56177443	56177443	G	A	MAP3K1	c.2416G>A	NM_005921.2	NP_005912.1:p.(Asp806Asn)	NC_000005.9:g.56177443G>A	(Likely) benign	2 labs	6c443c594c
21:46314967 ITGB2 G>A	21	46314967	46314967	G	A	ITGB2	c.1002C>T	NM_000211.3	NP_000202.2:p.(Thr334=)	NC_000021.8:g.46314967G>A	(Likely) benign	2 labs	6c45af2c5f
7:117242922 CFTR G>A	7	117242922	117242922	G	A	CFTR	c.2657+5G>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117242922G>A	(Likely) pathogenic	3 labs	6c4a9d50da
9:95484979 BICD2 T>A	9	95484979	95484979	T	A	BICD2	c.565A>T	NM_001003800.1	NP_001003800.1:p.(Ile189Phe)	NC_000009.11:g.95484979T>A	(Likely) pathogenic	2 labs	6c4c93b2b4
2:20189015 WDR35 T>C	2	20189015	20189015	T	C	WDR35	c.53A>G	NM_001006657.1	NP_001006658.1:p.(Gln18Arg)	NC_000002.11:g.20189015T>C	(Likely) benign	2 labs	6c4ffc4955
2:179579172 TTN C>T	2	179579172	179579172	C	T	TTN	c.26329G>A	NM_001267550.2	NP_001254479.2:p.(Val8777Ile)	NC_000002.11:g.179579172C>T	VUS	5 labs	6c5a2d3dcd
X:70357196 MED12 C>T	X	70357196	70357196	C	T	MED12	c.5711C>T	NM_005120.2	NP_005111.2:p.(Ala1904Val)	NC_000023.10:g.70357196C>T	(Likely) benign	3 labs	6c6872a684
7:117171169 CFTR G>T	7	117171169	117171169	G	T	CFTR	c.489+1G>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117171169G>T	(Likely) pathogenic	2 labs	6c7b0a3d4d
X:31676094 DMD A>C	X	31676094	31676094	A	C	DMD	c.7658+13T>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31676094A>C	(Likely) benign	3 labs	f5e7ced587
9:108363427 FKTN G>A	9	108363427	108363427	G	A	FKTN	c.98G>A	NM_001351497.1	NP_001338426.1:p.(Arg33His)	NC_000009.11:g.108363427G>A	(Likely) benign	2 labs	6c788c434c
11:108205832 ATM T>C	11	108205832	108205832	T	C	ATM	c.8147T>C	NM_001351834.2	NP_001338763.1:p.(Val2716Ala)	NC_000011.9:g.108205832T>C	(Likely) pathogenic	4 labs	f5edd1c9c4
10:112572147 RBM20 C>T	10	112572147	112572147	C	T	RBM20	c.1992C>T	NM_001134363.3	NP_001127835.2:p.(Pro664=)	NC_000010.10:g.112572147C>T	(Likely) benign	5 labs	6c91685991
16:30748664 SRCAP C>T	16	30748664	30748664	C	T	SRCAP	c.7303C>T	NM_006662.3	NP_006653.2:p.(Arg2435Ter)	NC_000016.9:g.30748664C>T	(Likely) pathogenic	5 labs	6c944d6ddc
16:57689883 ADGRG1 T>C	16	57689883	57689883	T	C	ADGRG1	c.996T>C	NM_001145774.3	NP_001139246.1:p.(Thr332=)	NC_000016.9:g.57689883T>C	(Likely) benign	2 labs	6c9c87cd96
2:48027853 MSH6 C>T	2	48027853	48027853	C	T	MSH6	c.2731C>T	NM_000179.3	NP_000170.1:p.(Arg911Ter)	NC_000002.11:g.48027853C>T	(Likely) pathogenic	3 labs	6ca1ef669f
5:147486725 SPINK5 G>T	5	147486725	147486725	G	T	SPINK5	c.1605G>T	NM_001127698.1	NP_001121170.1:p.(Val535=)	NC_000005.9:g.147486725G>T	(Likely) benign	3 labs	6ca361ca9f
19:16596063 CALR3 C>T	19	16596063	16596063	C	T	CALR3	c.403G>A	NM_145046.5	NP_659483.2:p.(Asp135Asn)	NC_000019.9:g.16596063C>T	VUS	4 labs	f5f5211daf
1:240371712 FMN2 T>A	1	240371712	240371712	T	A	FMN2	c.3612T>A	NM_001305424.1	NP_001292353.1:p.(Pro1204=)	NC_000001.10:g.240371712T>A	(Likely) benign	2 labs	6cacabf142
11:108158361 ATM T>C	11	108158361	108158361	T	C	ATM	c.4028T>C	NM_000051.3	NP_000042.3:p.(Ile1343Thr)	NC_000011.9:g.108158361T>C	VUS	3 labs	6cb0749378
20:43248975 ADA T>G	20	43248975	43248975	T	G	ADA	c.1043A>C	NM_000022.2	NP_000013.2:p.(Tyr348Ser)	NC_000020.10:g.43248975T>G	(Likely) benign	2 labs	6cb7496726
11:725751 EPS8L2 G>C	11	725751	725751	G	C	EPS8L2	c.1584G>C	NM_022772.3	NP_073609.2:p.(Trp528Cys)	NC_000011.9:g.725751G>C	VUS	2 labs	6cb960ba39
5:149512494 PDGFRB C>T	5	149512494	149512494	C	T	PDGFRB	c.946G>A	NM_002609.4	NP_002600.1:p.(Val316Met)	NC_000005.9:g.149512494C>T	(Likely) benign	3 labs	6cba93932b
19:50779439 MYH14 C>T	19	50779439	50779439	C	T	MYH14	c.3659C>T	NM_001145809.1	NP_001139281.1:p.(Thr1220Ile)	NC_000019.9:g.50779439C>T	VUS	2 labs	6ccb082ad8
15:74488398 STRA6 G>A	15	74488398	74488398	G	A	STRA6	c.474C>T	NM_001199042.1	NP_001185971.1:p.(Pro158=)	NC_000015.9:g.74488398G>A	(Likely) benign	2 labs	6ccb87ac9c
11:694797 DEAF1 G>C	11	694797	694797	G	C	DEAF1	c.251C>G	NM_021008.3	NP_066288.2:p.(Pro84Arg)	NC_000011.9:g.694797G>C	VUS	2 labs	6ccc3819cd
2:54895570 SPTBN1 C>T	2	54895570	54895570	C	T	SPTBN1	c.6959C>T	NM_003128.3	NP_003119.2:p.(Thr2320Met)	NC_000002.11:g.54895570C>T	(Likely) benign	2 labs	f5f9bf78b4
16:53682949 RPGRIP1L C>T	16	53682949	53682949	C	T	RPGRIP1L	c.2231G>A	NM_015272.4	NP_056087.2:p.(Arg744Gln)	NC_000016.9:g.53682949C>T	(Likely) benign	2 labs	6cd57cbc38
2:179481354 TTN C>T	2	179481354	179481354	C	T	TTN	c.48164G>A	NM_001267550.2	NP_001254479.2:p.(Arg16055His)	NC_000002.11:g.179481354C>T	VUS	3 labs	6cdd4a9f2d
7:87060844 ABCB4 C>T	7	87060844	87060844	C	T	ABCB4	c.1769G>A	NM_000443.4	NP_000434.1:p.(Arg590Gln)	NC_000007.13:g.87060844C>T	VUS	2 labs	6ce1eb903b
5:82834009 VCAN G>A	5	82834009	82834009	G	A	VCAN	c.5187G>A	NM_004385.5	NP_004376.2:p.(Glu1729=)	NC_000005.9:g.82834009G>A	(Likely) benign	2 labs	6ce46d5b79
2:73677386 ALMS1 G>A	2	73677386	73677386	G	A	ALMS1	c.3735G>A	NM_015120.4	NP_055935.4:p.(Lys1245=)	NC_000002.11:g.73677386G>A	(Likely) benign	2 labs	6cf2f6e0c9
21:47542060 COL6A2 C>G	21	47542060	47542060	C	G	COL6A2	c.1560C>G	NM_058175.2	NP_478055.2:p.(Pro520=)	NC_000021.8:g.47542060C>G	(Likely) benign	2 labs	6cf491f747
14:23884236 MYH7 T>C	14	23884236	23884236	T	C	MYH7	c.5527A>G	NM_000257.4	NP_000248.2:p.(Ser1843Gly)	NC_000014.8:g.23884236T>C	VUS	5 labs	f5fcc70997
2:179546372 TTN G>GT	2	179546372	179546379	G	GT	TTN	c.33172+15dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179546379dup	(Likely) benign	2 labs	6cf7c25d67
16:2549352 TBC1D24 C>T	16	2549352	2549352	C	T	TBC1D24	c.1143-6C>T	NM_001199107.1	NP_001186036.1:p.?	NC_000016.9:g.2549352C>T	(Likely) benign	2 labs	6cfdfd21a6
5:56168712 MAP3K1 C>T	5	56168712	56168712	C	T	MAP3K1	c.1566C>T	NM_005921.1	NP_005912.1:p.(Thr522=)	NC_000005.9:g.56168712C>T	(Likely) benign	2 labs	6d04a0ea6e
2:29443623 ALK G>A	2	29443623	29443623	G	A	ALK	c.3594C>T	NM_004304.5	NP_004295.2:p.(Leu1198=)	NC_000002.11:g.29443623G>A	(Likely) benign	4 labs	6d101c1ab2
X:103495144 ESX1 C>G	X	103495144	103495144	C	G	ESX1	c.986G>C	NM_153448.3	NP_703149.1:p.(Arg329Pro)	NC_000023.10:g.103495144C>G	(Likely) benign	2 labs	6d17d9ad75
8:144902833 PUF60 G>A	8	144902833	144902833	G	A	PUF60	c.219+3C>T	NM_001136033.2	NP_001129505.1:p.?	NC_000008.10:g.144902833G>A	(Likely) benign	2 labs	6d1b8a64f2
10:88441447 LDB3 G>A	10	88441447	88441447	G	A	LDB3	c.576G>A	NM_001171610.2	NP_001165081.1:p.(Pro192=)	NC_000010.10:g.88441447G>A	(Likely) benign	2 labs	6d1638e048
19:4054691 ZBTB7A A>AGCG	19	4054691	4054705	A	AGCG	ZBTB7A	c.537_539dup	NM_015898.4	NP_056982.1:p.(Ala181dup)	NC_000019.9:g.4054703_4054705dup	(Likely) benign	2 labs	f60c104e6b
2:47635539 MSH2 G>A	2	47635539	47635539	G	A	MSH2	c.212-1G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47635539G>A	(Likely) pathogenic	2 labs	6d1e3cf041
X:49086738 CACNA1F A>G	X	49086738	49086738	A	G	CACNA1F	c.761T>C	NM_005183.4	NP_005174.2:p.(Ile254Thr)	NC_000023.10:g.49086738A>G	VUS	2 labs	6d33c997b2
X:149638206 MAMLD1 G>A	X	149638206	149638206	G	A	MAMLD1	c.361G>A	NM_005491.4	NP_005482.2:p.(Ala121Thr)	NC_000023.10:g.149638206G>A	(Likely) benign	2 labs	6d2c28951b
11:68174122 LRP5 G>A	11	68174122	68174122	G	A	LRP5	c.1932G>A	NM_002335.4	NP_002326.2:p.(Glu644=)	NC_000011.9:g.68174122G>A	(Likely) benign	4 labs	6d392c13f6
20:62324212 RTEL1 G>A	20	62324212	62324212	G	A	RTEL1	c.2707G>A	NM_001283009.1	NP_001269938.1:p.(Val903Met)	NC_000020.10:g.62324212G>A	VUS	3 labs	6d3ef6f706
12:48375136 COL2A1 C>G	12	48375136	48375136	C	G	COL2A1	c.2453G>C	NM_001844.4	NP_001835.3:p.(Arg818Pro)	NC_000012.11:g.48375136C>G	VUS	2 labs	6d471f04f9
10:104160482 NFKB2 G>A	10	104160482	104160482	G	A	NFKB2	c.1869G>A	NM_001288724.1	NP_001275653.1:p.(Gly623=)	NC_000010.10:g.104160482G>A	(Likely) benign	2 labs	6d4df75a9a
1:231506343 EGLN1 G>A	1	231506343	231506343	G	A	EGLN1	c.1113C>T	NM_022051.2	NP_071334.1:p.(Arg371=)	NC_000001.10:g.231506343G>A	(Likely) benign	2 labs	6d51dde542
11:19207798 CSRP3 C>T	11	19207798	19207798	C	T	CSRP3	c.379G>A	NM_003476.5	NP_003467.1:p.(Val127Ile)	NC_000011.9:g.19207798C>T	VUS	4 labs	f611e03681
3:184076840 CLCN2 G>C	3	184076840	184076840	G	C	CLCN2	c.143C>G	NM_004366.5	NP_004357.3:p.(Pro48Arg)	NC_000003.11:g.184076840G>C	(Likely) benign	3 labs	6d580178d3
8:100205242 VPS13B C>T	8	100205242	100205242	C	T	VPS13B	c.2472C>T	NM_017890.5	NP_060360.3:p.(Ser824=)	NC_000008.10:g.100205242C>T	(Likely) benign	2 labs	6d5dc725f2
7:6037057 PMS2 GA>G	7	6037057	6037074	GA	G	PMS2	c.706-4del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037074del	(Likely) benign	4 labs	6d6a690c53
8:10466187 RP1L1 G>C	8	10466187	10466187	G	C	RP1L1	c.5421C>G	NM_178857.6	NP_849188.4:p.(Gly1807=)	NC_000008.10:g.10466187G>C	(Likely) benign	2 labs	6d62d9c1ac
17:57141755 TRIM37 G>C	17	57141755	57141755	G	C	TRIM37	c.821C>G	NM_015294.6	NP_056109.1:p.(Pro274Arg)	NC_000017.10:g.57141755G>C	VUS	2 labs	6d73aacd3d
20:32881908 AHCY T>C	20	32881908	32881908	T	C	AHCY	c.190A>G	NM_001161766.2	NP_001155238.1:p.(Ile64Val)	NC_000020.10:g.32881908T>C	(Likely) benign	3 labs	6d7482c815
4:1808030 FGFR3 G>A	4	1808030	1808030	G	A	FGFR3	c.2006G>A	NM_000142.4	NP_000133.1:p.(Arg669Gln)	NC_000004.11:g.1808030G>A	VUS	2 labs	6d80111172
19:38993362 RYR1 C>T	19	38993362	38993362	C	T	RYR1	c.7830C>T	NM_000540.2	NP_000531.2:p.(Leu2610=)	NC_000019.9:g.38993362C>T	(Likely) benign	3 labs	6d8e50e8d8
12:49438283 KMT2D G>A	12	49438283	49438283	G	A	KMT2D	c.4986C>T	NM_003482.3	NP_003473.3:p.(Cys1662=)	NC_000012.11:g.49438283G>A	(Likely) benign	2 labs	6d8ed139dd
16:1498675 CLCN7 G>A	16	1498675	1498675	G	A	CLCN7	c.1883+7C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1498675G>A	(Likely) benign	3 labs	6d98c420e0
11:32456598 WT1 G>T	11	32456598	32456598	G	T	WT1				NC_000011.9:g.32456598G>T	(Likely) benign	2 labs	6daac77a55
5:149301253 PDE6A G>A	5	149301253	149301253	G	A	PDE6A	c.878C>T	NM_000440.3	NP_000431.2:p.(Pro293Leu)	NC_000005.9:g.149301253G>A	(Likely) benign	2 labs	f61cdc9839
2:179594573 TTN C>T	2	179594573	179594573	C	T	TTN	c.18407G>A	NM_001267550.2	NP_001254479.2:p.(Arg6136Gln)	NC_000002.11:g.179594573C>T	(Likely) benign	2 labs	6daf3424aa
5:112164561 APC G>A	5	112164561	112164561	G	A	APC	c.1635G>A	NM_000038.6	NP_000029.2:p.(Ala545=)	NC_000005.9:g.112164561G>A	(Likely) benign	3 labs	6dbe7de5fd
20:13765930 NDUFAF5 G>A	20	13765930	13765930	G	A	NDUFAF5	c.216G>A	NM_024120.5	NP_077025.2:p.(Lys72=)	NC_000020.10:g.13765930G>A	(Likely) benign	2 labs	6dc53174d3
19:45860928 ERCC2 C>T	19	45860928	45860928	C	T	ERCC2	c.1267G>A	NM_000400.3	NP_000391.1:p.(Asp423Asn)	NC_000019.9:g.45860928C>T	(Likely) benign	2 labs	6dbbedbc3a
9:35657952 RMRP G>A	9	35657952	35657952	G	A	RMRP	n.64C>T	NR_003051.3		NC_000009.11:g.35657952G>A	(Likely) pathogenic	2 labs	6dbc40eb37
18:77464813 CTDP1 C>T	18	77464813	77464813	C	T	CTDP1	c.668C>T	NM_004715.5	NP_004706.3:p.(Thr223Met)	NC_000018.9:g.77464813C>T	VUS	4 labs	6dbe04fdd6
7:128496813 FLNC C>T	7	128496813	128496813	C	T	FLNC	c.7399C>T	NM_001458.5	NP_001449.3:p.(Arg2467Cys)	NC_000007.13:g.128496813C>T	VUS	2 labs	6dc768fd13
2:166234155 SCN2A C>T	2	166234155	166234155	C	T	SCN2A	c.4303C>T	NM_021007.3	NP_066287.2:p.(Arg1435Ter)	NC_000002.11:g.166234155C>T	(Likely) pathogenic	2 labs	f6200afb41
2:31609369 XDH G>A	2	31609369	31609369	G	A	XDH	c.704C>T	NM_000379.3	NP_000370.2:p.(Thr235Met)	NC_000002.11:g.31609369G>A	(Likely) benign	2 labs	6dccf0245b
X:152959983 SLC6A8 C>T	X	152959983	152959983	C	T	SLC6A8	c.1496-5C>T	NM_005629.3	NP_005620.1:p.?	NC_000023.10:g.152959983C>T	(Likely) benign	2 labs	6dcfd003a2
1:116275588 CASQ2 C>T	1	116275588	116275588	C	T	CASQ2	c.540G>A	NM_001232.3	NP_001223.2:p.(Lys180=)	NC_000001.10:g.116275588C>T	(Likely) benign	2 labs	6dd06bb00b
14:74951111 NPC2 C>T	14	74951111	74951111	C	T	NPC2	c.363+7G>A	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74951111C>T	(Likely) benign	3 labs	6dd2346e15
8:10470068 RP1L1 C>T	8	10470068	10470068	C	T	RP1L1	c.1540G>A	NM_178857.6	NP_849188.4:p.(Gly514Ser)	NC_000008.10:g.10470068C>T	(Likely) benign	2 labs	f6218540cb
3:37090475 MLH1 C>A	3	37090475	37090475	C	A	MLH1	c.2070C>A	NM_000249.3	NP_000240.1:p.(Tyr690Ter)	NC_000003.11:g.37090475C>A	(Likely) pathogenic	2 labs	6dd86a2c5c
1:236912446 ACTN2 C>A	1	236912446	236912446	C	A	ACTN2	c.1538C>A	NM_001103.4	NP_001094.1:p.(Thr513Asn)	NC_000001.10:g.236912446C>A	VUS	3 labs	6dde75f9a1
22:29091741 CHEK2 G>A	22	29091741	29091741	G	A	CHEK2	c.1216C>T	NM_007194.4	NP_009125.1:p.(Arg406Cys)	NC_000022.10:g.29091741G>A	VUS	3 labs	f62244ecd6
17:76423042 DNAH17 G>A	17	76423042	76423042	G	A	DNAH17	c.12736C>T	NM_173628.3	NP_775899.3:p.(Arg4246Cys)	NC_000017.10:g.76423042G>A	VUS	2 labs	6def16c7c9
11:61133649 TMEM138 G>A	11	61133649	61133649	G	A	TMEM138	c.261G>A	NM_016464.4	NP_057548.1:p.(Val87=)	NC_000011.9:g.61133649G>A	(Likely) benign	2 labs	6df2c3147a
10:16957036 CUBN A>G	10	16957036	16957036	A	G	CUBN	c.7346T>C	NM_001081.3	NP_001072.2:p.(Met2449Thr)	NC_000010.10:g.16957036A>G	(Likely) benign	2 labs	6df6513754
11:119216121 C1QTNF5 G>A	11	119216121	119216121	G	A	C1QTNF5	c.-1996+9C>T	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216121G>A	(Likely) benign	2 labs	6df428a36b
6:112508744 LAMA4 C>T	6	112508744	112508744	C	T	LAMA4	c.874G>A	NM_001105206.2	NP_001098676.2:p.(Glu292Lys)	NC_000006.11:g.112508744C>T	VUS	2 labs	6e04cac63e
14:23902974 MYH7 C>A	14	23902974	23902974	C	A	MYH7	c.-8-25G>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23902974C>A	(Likely) benign	2 labs	f629ffed57
6:112439104 LAMA4 G>A	6	112439104	112439104	G	A	LAMA4	c.4822-3C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112439104G>A	(Likely) benign	2 labs	f62be903e0
9:13186292 MPDZ G>C	9	13186292	13186292	G	C	MPDZ	c.2458C>G	NM_003829.4	NP_003820.2:p.(Leu820Val)	NC_000009.11:g.13186292G>C	(Likely) benign	2 labs	6e17a5e6c7
5:138260929 CTNNA1 G>C	5	138260929	138260929	G	C	CTNNA1	c.1748-16G>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138260929G>C	(Likely) benign	4 labs	f62fbc0b11
8:144994554 PLEC G>A	8	144994554	144994554	G	A	PLEC	c.9846C>T	NM_201380.3	NP_958782.1:p.(Asp3282=)	NC_000008.10:g.144994554G>A	(Likely) benign	2 labs	6e280420d8
4:15569018 CC2D2A G>A	4	15569018	15569018	G	A	CC2D2A	c.3201G>A	NM_001080522.2	NP_001073991.2:p.(Ser1067=)	NC_000004.11:g.15569018G>A	(Likely) benign	2 labs	6e29021cdf
14:76437557 TGFB3 G>A	14	76437557	76437557	G	A	TGFB3	c.558C>T	NM_003239.2	NP_003230.1:p.(Ile186=)	NC_000014.8:g.76437557G>A	(Likely) benign	2 labs	6e2957bb1f
14:21551030 ARHGEF40 G>A	14	21551030	21551030	G	A	ARHGEF40	c.1385G>A	NM_001278529.1	NP_001265458.1:p.(Arg462Gln)	NC_000014.8:g.21551030G>A	VUS	2 labs	6e2993fc9a
6:51777251 PKHD1 G>A	6	51777251	51777251	G	A	PKHD1	c.6245C>T	NM_138694.3	NP_619639.3:p.(Thr2082Ile)	NC_000006.11:g.51777251G>A	(Likely) benign	2 labs	6e2e9274eb
12:49428228 KMT2D C>T	12	49428228	49428228	C	T	KMT2D	c.10472G>A	NM_003482.3	NP_003473.3:p.(Arg3491His)	NC_000012.11:g.49428228C>T	VUS	2 labs	6e3422a83e
2:179411904 TTN G>A	2	179411904	179411904	G	A	TTN	c.94348C>T	NM_001267550.2	NP_001254479.2:p.(Arg31450Cys)	NC_000002.11:g.179411904G>A	VUS	2 labs	6e34f29fde
19:1401397 GAMT A>G	19	1401397	1401397	A	G	GAMT	c.79T>C	NM_138924.2	NP_620279.1:p.(Tyr27His)	NC_000019.9:g.1401397A>G	(Likely) benign	2 labs	6e3a08dc26
1:100671866 DBT TA>T	1	100671866	100671879	TA	T	DBT	c.1210-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671879del	(Likely) benign	2 labs	6e3603ca07
6:66005888 EYS C>T	6	66005888	66005888	C	T	EYS	c.1891G>A	NM_001142800.2	NP_001136272.1:p.(Gly631Ser)	NC_000006.11:g.66005888C>T	(Likely) benign	3 labs	6e40085087
1:21896887 ALPL G>T	1	21896887	21896887	G	T	ALPL	c.862+20G>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21896887G>T	(Likely) benign	2 labs	6e3f686e4a
4:88537171 DSPP CAGCAGCAAT>C	4	88537171	88537185	CAGCAGCAAT	C	DSPP	c.3363_3371del	NM_014208.3	NP_055023.2:p.(Asn1122_Ser1124del)	NC_000004.11:g.88537177_88537185del	(Likely) benign	2 labs	6e47e81fff
2:73677722 ALMS1 G>C	2	73677722	73677722	G	C	ALMS1	c.4071G>C	NM_015120.4	NP_055935.4:p.(Glu1357Asp)	NC_000002.11:g.73677722G>C	(Likely) benign	2 labs	6e56ef83d7
7:21639572 DNAH11 A>G	7	21639572	21639572	A	G	DNAH11				NC_000007.13:g.21639572A>G	(Likely) benign	2 labs	6e5c6e1d5b
2:48030669 MSH6 C>T	2	48030669	48030669	C	T	MSH6	c.3283C>T	NM_000179.3	NP_000170.1:p.(Arg1095Cys)	NC_000002.11:g.48030669C>T	VUS	2 labs	f64235ffe0
20:31024034 ASXL1 G>A	20	31024034	31024034	G	A	ASXL1	c.3519G>A	NM_015338.5	NP_056153.2:p.(Leu1173=)	NC_000020.10:g.31024034G>A	(Likely) benign	3 labs	6e60b6a997
4:5642347 EVC2 G>C	4	5642347	5642347	G	C	EVC2	c.1124C>G	NM_001166136.1	NP_001159608.1:p.(Thr375Arg)	NC_000004.11:g.5642347G>C	(Likely) benign	3 labs	6e62243d7c
3:12641247 RAF1 G>A	3	12641247	12641247	G	A	RAF1	c.1051C>T	NM_002880.3	NP_002871.1:p.(Leu351=)	NC_000003.11:g.12641247G>A	(Likely) benign	2 labs	6e67c5b1c4
10:13151224 OPTN G>A	10	13151224	13151224	G	A	OPTN	c.102G>A	NM_001008211.1	NP_001008212.1:p.(Thr34=)	NC_000010.10:g.13151224G>A	(Likely) benign	3 labs	6e6aed8319
5:112128142 APC G>A	5	112128142	112128142	G	A	APC				NC_000005.9:g.112128142G>A	(Likely) pathogenic	2 labs	6e769e40e9
12:9001508 A2ML1 C>T	12	9001508	9001508	C	T	A2ML1	c.2026C>T	NM_144670.5	NP_653271.2:p.(Arg676Trp)	NC_000012.11:g.9001508C>T	(Likely) benign	2 labs	6e792e044b
2:179629403 TTN G>T	2	179629403	179629403	G	T	TTN	c.9839C>A	NM_001267550.2	NP_001254479.2:p.(Ser3280Tyr)	NC_000002.11:g.179629403G>T	VUS	4 labs	6e844872a8
8:144995372 PLEC C>T	8	144995372	144995372	C	T	PLEC	c.9028G>A	NM_201380.3	NP_958782.1:p.(Glu3010Lys)	NC_000008.10:g.144995372C>T	(Likely) benign	2 labs	6e8a516a0e
14:23900977 MYH7 G>A	14	23900977	23900977	G	A	MYH7	c.632C>T	NM_000257.4	NP_000248.2:p.(Pro211Leu)	NC_000014.8:g.23900977G>A	VUS	2 labs	f6539c90f4
6:66205023 EYS G>T	6	66205023	66205023	G	T	EYS	c.281C>A	NM_001292009.2	NP_001278938.1:p.(Pro94Gln)	NC_000006.11:g.66205023G>T	(Likely) benign	2 labs	6e8ba1406d
10:50678717 ERCC6 T>C	10	50678717	50678717	T	C	ERCC6	c.3289A>G	NM_000124.4	NP_000115.1:p.(Met1097Val)	NC_000010.10:g.50678717T>C	(Likely) benign	3 labs	6e9e10a8b2
8:145024783 PLEC C>T	8	145024783	145024783	C	T	PLEC	c.92G>A	NM_201380.3	NP_958782.1:p.(Arg31Gln)	NC_000008.10:g.145024783C>T	(Likely) benign	2 labs	6e96582e4b
18:7046276 LAMA1 C>A	18	7046276	7046276	C	A	LAMA1	c.858+1G>T	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7046276C>A	(Likely) pathogenic	2 labs	6e9cca6079
19:35530162 SCN1B C>T	19	35530162	35530162	C	T	SCN1B	c.491C>T	NM_001321605.1	NP_001308534.1:p.(Ala164Val)	NC_000019.9:g.35530162C>T	VUS	3 labs	6ea322522e
16:15851819 MYH11 G>A	16	15851819	15851819	G	A	MYH11	c.1461C>T	NM_001040113.2	NP_001035202.1:p.(Asn487=)	NC_000016.9:g.15851819G>A	(Likely) benign	3 labs	6ea414f133
7:2969649 CARD11 T>G	7	2969649	2969649	T	G	CARD11	c.1630A>C	NM_032415.5	NP_115791.3:p.(Ile544Leu)	NC_000007.13:g.2969649T>G	(Likely) benign	2 labs	6eb7c8e48a
5:161322652 GABRA1 GT>G	5	161322652	161322663	GT	G	GABRA1	c.857-9del	NM_001127644.2	NP_001121116.1:p.?	NC_000005.9:g.161322663del	(Likely) benign	2 labs	f65a9930fa
1:207639947 CR2 C>T	1	207639947	207639947	C	T	CR2	c.135C>T	NM_001006658.2	NP_001006659.1:p.(Thr45=)	NC_000001.10:g.207639947C>T	(Likely) benign	2 labs	6eb8ed7055
1:237881790 RYR2 T>C	1	237881790	237881790	T	C	RYR2	c.10523T>C	NM_001035.2	NP_001026.2:p.(Ile3508Thr)	NC_000001.10:g.237881790T>C	(Likely) benign	2 labs	6eb9e9362f
13:22255167 FGF9 C>T	13	22255167	22255167	C	T	FGF9	c.278-14C>T	NM_002010.3	NP_002001.1:p.?	NC_000013.10:g.22255167C>T	(Likely) benign	2 labs	f65b7c9825
2:228153870 COL4A3 C>T	2	228153870	228153870	C	T	COL4A3	c.2886C>T	NM_000091.4	NP_000082.2:p.(Phe962=)	NC_000002.11:g.228153870C>T	(Likely) benign	2 labs	6ec0e4389f
22:39621784 PDGFB G>A	22	39621784	39621784	G	A	PDGFB	c.670C>T	NM_002608.4	NP_002599.1:p.(Arg224Trp)	NC_000022.10:g.39621784G>A	VUS	2 labs	6ecc211b52
12:21331599 SLCO1B1 T>C	12	21331599	21331599	T	C	SLCO1B1	c.571T>C	NM_006446.5	NP_006437.3:p.(Leu191=)	NC_000012.11:g.21331599T>C	(Likely) benign	3 labs	f65cd28ae0
7:97488174 ASNS A>G	7	97488174	97488174	A	G	ASNS	c.767T>C	NM_183356.4	NP_899199.2:p.(Leu256Pro)	NC_000007.13:g.97488174A>G	VUS	2 labs	f65e95cb3f
17:29556462 NF1 G>GT	17	29556462	29556468	G	GT	NF1	c.2835dup	NM_000267.3	NP_000258.1:p.(Asp946Ter)	NC_000017.10:g.29556468dup	(Likely) pathogenic	2 labs	6ece82b6cb
8:100779103 VPS13B G>A	8	100779103	100779103	G	A	VPS13B	c.7227G>A	NM_017890.5	NP_060360.3:p.(Pro2409=)	NC_000008.10:g.100779103G>A	(Likely) benign	4 labs	6ecde86b6a
5:90079091 ADGRV1 A>G	5	90079091	90079091	A	G	ADGRV1	c.13382A>G	NM_032119.4	NP_115495.3:p.(His4461Arg)	NC_000005.9:g.90079091A>G	VUS	2 labs	f667cec706
7:42004684 GLI3 G>A	7	42004684	42004684	G	A	GLI3	c.3987C>T	NM_000168.6	NP_000159.3:p.(Gly1329=)	NC_000007.13:g.42004684G>A	(Likely) benign	2 labs	6ed69e4cb1
8:144991082 PLEC C>T	8	144991082	144991082	C	T	PLEC	c.12988G>A	NM_000445.5	NP_000436.2:p.(Val4330Met)	NC_000008.10:g.144991082C>T	VUS	3 labs	6ee3a9d5f4
13:32944537 BRCA2 A>G	13	32944537	32944537	A	G	BRCA2	c.8332-2A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32944537A>G	(Likely) pathogenic	2 labs	f66d365f3b
1:116228006 VANGL1 G>T	1	116228006	116228006	G	T	VANGL1	c.1172G>T	NM_138959.3	NP_620409.1:p.(Arg391Met)	NC_000001.10:g.116228006G>T	(Likely) benign	2 labs	f66d6a87cb
12:103352171 ASCL1 C>CGCAGCA	12	103352171	103352208	C	CGCAGCA	ASCL1	c.181_186dup	NM_004316.4	NP_004307.2:p.(Gln61_Gln62dup)	NC_000012.11:g.103352203_103352208dup	(Likely) benign	2 labs	6eeb111ace
18:19359474 MIB1 T>C	18	19359474	19359474	T	C	MIB1	c.736T>C	NM_020774.4	NP_065825.1:p.(Leu246=)	NC_000018.9:g.19359474T>C	(Likely) benign	4 labs	6f02e5e093
3:178947865 PIK3CA G>A	3	178947865	178947865	G	A	PIK3CA	c.2740G>A	NM_006218.2	NP_006209.2:p.(Gly914Arg)	NC_000003.11:g.178947865G>A	(Likely) pathogenic	2 labs	6f0437ca0d
X:108631757 GUCY2F G>T	X	108631757	108631757	G	T	GUCY2F	c.2917C>A	NM_001522.3	NP_001513.2:p.(Pro973Thr)	NC_000023.10:g.108631757G>T	(Likely) benign	2 labs	f6707b438e
11:47362465 MYBPC3 G>C	11	47362465	47362465	G	C	MYBPC3	c.1927+89C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362465G>C	(Likely) benign	2 labs	6f08f1bace
1:74818986 TNNI3K A>G	1	74818986	74818986	A	G	TNNI3K	c.969A>G	NM_015978.2	NP_057062.1:p.(Lys323=)	NC_000001.10:g.74818986A>G	(Likely) benign	2 labs	6f091be3cd
X:17710533 NHS A>C	X	17710533	17710533	A	C	NHS	c.797A>C	NM_001291867.1	NP_001278796.1:p.(Tyr266Ser)	NC_000023.10:g.17710533A>C	VUS	2 labs	6f11ccd9c5
1:226125339 LEFTY2 C>T	1	226125339	226125339	C	T	LEFTY2	c.903G>A	NM_003240.4	NP_003231.2:p.(Pro301=)	NC_000001.10:g.226125339C>T	(Likely) benign	2 labs	6f1ac5d7e6
8:27637705 ESCO2 CAG>C	8	27637705	27637709	CAG	C	ESCO2	c.879_880del	NM_001017420.3	NP_001017420.1:p.(Arg293SerfsTer7)	NC_000008.10:g.27637708_27637709del	(Likely) pathogenic	2 labs	6f25c66845
16:88504766 ZNF469 C>T	16	88504766	88504766	C	T	ZNF469	c.10888C>T	NM_001367624.2	NP_001354553.1:p.(Arg3630Cys)	NC_000016.9:g.88504766C>T	(Likely) benign	2 labs	6f2b34f802
10:69882038 MYPN A>G	10	69882038	69882038	A	G	MYPN	c.843A>G	NM_032578.4	NP_115967.2:p.(Pro281=)	NC_000010.10:g.69882038A>G	(Likely) benign	3 labs	6f2bc834cc
6:24178665 DCDC2 C>T	6	24178665	24178665	C	T	DCDC2	c.1219G>A	NM_016356.4	NP_057440.2:p.(Gly407Ser)	NC_000006.11:g.24178665C>T	(Likely) benign	2 labs	6f2e663e9a
1:226125385 LEFTY2 G>A	1	226125385	226125385	G	A	LEFTY2	c.857C>T	NM_003240.4	NP_003231.2:p.(Pro286Leu)	NC_000001.10:g.226125385G>A	(Likely) benign	3 labs	6f35852f06
17:78156585 CARD14 T>C	17	78156585	78156585	T	C	CARD14	c.345T>C	NM_001366385.1	NP_001353314.1:p.(Phe115=)	NC_000017.10:g.78156585T>C	(Likely) benign	2 labs	6f3cc193a1
11:118391592 KMT2A T>G	11	118391592	118391592	T	G	KMT2A	c.11505T>G	NM_001197104.1	NP_001184033.1:p.(Gly3835=)	NC_000011.9:g.118391592T>G	(Likely) benign	2 labs	6f3d5ba005
8:77775651 ZFHX4 G>A	8	77775651	77775651	G	A	ZFHX4	c.9701G>A	NM_024721.5	NP_078997.4:p.(Gly3234Asp)	NC_000008.10:g.77775651G>A	VUS	2 labs	6f46f20ff8
10:121436513 BAG3 G>A	10	121436513	121436513	G	A	BAG3	c.1447G>A	NM_004281.4	NP_004272.2:p.(Gly483Ser)	NC_000010.10:g.121436513G>A	VUS	3 labs	f682b5f048
8:61655410 CHD7 G>C	8	61655410	61655410	G	C	CHD7				NC_000008.10:g.61655410G>C	(Likely) benign	2 labs	6f4b7fa59c
1:12017961 PLOD1 C>T	1	12017961	12017961	C	T	PLOD1	c.804C>T	NM_000302.4	NP_000293.2:p.(Thr268=)	NC_000001.10:g.12017961C>T	(Likely) benign	2 labs	6f496b16fb
5:37173930 CPLANE1 A>C	5	37173930	37173930	A	C	CPLANE1	c.6098T>G	NM_023073.4	NP_075561.3:p.(Phe2033Cys)	NC_000005.9:g.37173930A>C	(Likely) benign	2 labs	6f526c3a72
19:11224419 LDLR G>A	19	11224419	11224419	G	A	LDLR	c.1567G>A	NM_000527.5	NP_000518.1:p.(Val523Met)	NC_000019.9:g.11224419G>A	(Likely) pathogenic	2 labs	f682f00045
17:1943099 DPH1 C>G	17	1943099	1943099	C	G	DPH1	c.731C>G	NM_001383.6	NP_001374.4:p.(Pro244Arg)	NC_000017.10:g.1943099C>G	(Likely) benign	2 labs	f682f470ef
13:52518427 ATP7B T>C	13	52518427	52518427	T	C	ATP7B	c.3061A>G	NM_000053.4	NP_000044.2:p.(Ile1021Val)	NC_000013.10:g.52518427T>C	VUS	2 labs	f684bcfbe7
13:32953525 BRCA2 T>C	13	32953525	32953525	T	C	BRCA2	c.8826T>C	NM_000059.4	NP_000050.3:p.(Ala2942=)	NC_000013.10:g.32953525T>C	(Likely) benign	2 labs	f68a03eb30
17:6515229 KIAA0753 G>A	17	6515229	6515229	G	A	KIAA0753	c.648+10C>T	NM_001351225.1	NP_001338154.1:p.?	NC_000017.10:g.6515229G>A	(Likely) benign	2 labs	6f6426bc4b
X:76940012 ATRX G>A	X	76940012	76940012	G	A	ATRX	c.736C>T	NM_000489.5	NP_000480.3:p.(Arg246Cys)	NC_000023.10:g.76940012G>A	(Likely) pathogenic	2 labs	6f66a11dcb
3:38647445 SCN5A G>A	3	38647445	38647445	G	A	SCN5A	c.1335C>T	NM_198056.3	NP_932173.1:p.(His445=)	NC_000003.11:g.38647445G>A	(Likely) benign	3 labs	6f5dae076c
18:11689669 GNAL C>CGGCCCT	18	11689669	11689680	C	CGGCCCT	GNAL	c.113_118dup	NM_182978.4	NP_892023.1:p.(Leu38_Ala39dup)	NC_000018.9:g.11689675_11689680dup	(Likely) benign	2 labs	f68ba40b6a
20:49510782 ADNP C>A	20	49510782	49510782	C	A	ADNP	c.469G>T	NM_015339.5	NP_056154.1:p.(Ala157Ser)	NC_000020.10:g.49510782C>A	VUS	2 labs	f68d932872
18:44122689 LOXHD1 C>G	18	44122689	44122689	C	G	LOXHD1	c.3748+1G>C	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44122689C>G	(Likely) pathogenic	2 labs	6f7de7a5e2
1:5934581 NPHP4 C>T	1	5934581	5934581	C	T	NPHP4	c.3181G>A	NM_015102.4	NP_055917.1:p.(Val1061Ile)	NC_000001.10:g.5934581C>T	VUS	2 labs	6f8057de23
9:107586753 ABCA1 T>C	9	107586753	107586753	T	C	ABCA1	c.2649A>G	NM_005502.4	NP_005493.2:p.(Ile883Met)	NC_000009.11:g.107586753T>C	(Likely) benign	2 labs	f69a840fa4
16:1401977 GNPTG G>A	16	1401977	1401977	G	A	GNPTG	c.11G>A	NM_032520.4	NP_115909.1:p.(Gly4Glu)	NC_000016.9:g.1401977G>A	(Likely) benign	2 labs	6f86f32947
21:45709592 AIRE G>A	21	45709592	45709592	G	A	AIRE				NC_000021.8:g.45709592G>A	(Likely) benign	2 labs	6f91bcb783
3:12641718 RAF1 G>A	3	12641718	12641718	G	A	RAF1	c.923C>T	NM_002880.3	NP_002871.1:p.(Pro308Leu)	NC_000003.11:g.12641718G>A	(Likely) benign	3 labs	6f960d9f88
4:3495033 DOK7 C>T	4	3495033	3495033	C	T	DOK7	c.1320C>T	NM_173660.5	NP_775931.3:p.(Ala440=)	NC_000004.11:g.3495033C>T	(Likely) benign	2 labs	6f9b2e9219
1:154557340 ADAR T>C	1	154557340	154557340	T	C	ADAR	c.2738A>G	NM_001193495.2	NP_001180424.1:p.(Tyr913Cys)	NC_000001.10:g.154557340T>C	VUS	2 labs	6fa85c5e05
9:135781005 TSC1 G>GT	9	135781005	135781006	G	GT	TSC1	c.1959dup	NM_000368.4	NP_000359.1:p.(Gln654ThrfsTer34)	NC_000009.11:g.135781006dup	(Likely) pathogenic	2 labs	6fa9802975
1:44058233 PTPRF G>A	1	44058233	44058233	G	A	PTPRF	c.1774G>A	NM_002840.5	NP_002831.2:p.(Val592Ile)	NC_000001.10:g.44058233G>A	VUS	2 labs	f6a5c20ddb
14:64669514 SYNE2 T>A	14	64669514	64669514	T	A	SYNE2	c.18039-5T>A	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64669514T>A	(Likely) benign	3 labs	6fb26f05bb
16:2160904 PKD1 C>T	16	2160904	2160904	C	T	PKD1	c.4264G>A	NM_001009944.2	NP_001009944.2:p.(Ala1422Thr)	NC_000016.9:g.2160904C>T	(Likely) benign	3 labs	6fb43a8eb9
1:104086048 RNPC3 A>C	1	104086048	104086048	A	C	RNPC3	c.1024A>C	NM_017619.4	NP_060089.1:p.(Asn342His)	NC_000001.10:g.104086048A>C	(Likely) benign	2 labs	6fc43e7a64
4:185593614 PRIMPOL G>A	4	185593614	185593614	G	A	PRIMPOL	c.844G>A	NM_001345891.1	NP_001332820.1:p.(Gly282Arg)	NC_000004.11:g.185593614G>A	VUS	2 labs	6fc7cde427
9:79825552 VPS13A G>A	9	79825552	79825552	G	A	VPS13A	c.516G>A	NM_033305.3	NP_150648.2:p.(Pro172=)	NC_000009.11:g.79825552G>A	(Likely) benign	2 labs	6fce9778ea
8:118817133 EXT1 C>G	8	118817133	118817133	C	G	EXT1	c.1884-1G>C	NM_000127.2	NP_000118.2:p.?	NC_000008.10:g.118817133C>G	(Likely) pathogenic	2 labs	6fd0ca7937
15:73615084 HCN4 G>A	15	73615084	73615084	G	A	HCN4	c.3350C>T	NM_005477.3	NP_005468.1:p.(Pro1117Leu)	NC_000015.9:g.73615084G>A	(Likely) benign	6 labs	6fd61fe7de
22:30067928 NF2 C>T	22	30067928	30067928	C	T	NF2	c.1113C>T	NM_000268.3	NP_000259.1:p.(Asn371=)	NC_000022.10:g.30067928C>T	(Likely) benign	2 labs	6fde6f9405
20:44049008 PIGT C>T	20	44049008	44049008	C	T	PIGT	c.806C>T	NM_015937.6	NP_057021.2:p.(Thr269Met)	NC_000020.10:g.44049008C>T	VUS	2 labs	6fe5bf5b64
10:73767859 CHST3 G>A	10	73767859	73767859	G	A	CHST3	c.1070G>A	NM_004273.5	NP_004264.2:p.(Arg357Gln)	NC_000010.10:g.73767859G>A	(Likely) benign	3 labs	f6ab53bc80
16:88782029 PIEZO1 G>C	16	88782029	88782029	G	C	PIEZO1	c.7550C>G	NM_001142864.4	NP_001136336.2:p.(Thr2517Ser)	NC_000016.9:g.88782029G>C	VUS	2 labs	6fe7a5840d
6:70926748 COL9A1 C>A	6	70926748	70926748	C	A	COL9A1	c.2618G>T	NM_001851.4	NP_001842.3:p.(Arg873Leu)	NC_000006.11:g.70926748C>A	VUS	2 labs	6fe86cb63b
17:72295966 DNAI2 C>T	17	72295966	72295966	C	T	DNAI2	c.834C>T	NM_023036.6	NP_075462.3:p.(Thr278=)	NC_000017.10:g.72295966C>T	(Likely) benign	2 labs	6ff5700b09
10:13330470 PHYH C>T	10	13330470	13330470	C	T	PHYH	c.268G>A	NM_001037537.2	NP_001032626.1:p.(Val90Ile)	NC_000010.10:g.13330470C>T	VUS	2 labs	6ff60671ee
7:103179619 RELN G>A	7	103179619	103179619	G	A	RELN	c.7086C>T	NM_005045.4	NP_005036.2:p.(Thr2362=)	NC_000007.13:g.103179619G>A	(Likely) benign	2 labs	70035ed26f
3:129185924 IFT122 G>A	3	129185924	129185924	G	A	IFT122	c.893+15G>A	NM_052985.3	NP_443711.2:p.?	NC_000003.11:g.129185924G>A	(Likely) benign	2 labs	7008936f24
8:61777602 CHD7 C>T	8	61777602	61777602	C	T	CHD7	c.8104C>T	NM_017780.4	NP_060250.2:p.(Arg2702Cys)	NC_000008.10:g.61777602C>T	VUS	2 labs	f6afe0f816
2:179462494 TTN A>G	2	179462494	179462494	A	G	TTN	c.57315T>C	NM_001267550.2	NP_001254479.2:p.(His19105=)	NC_000002.11:g.179462494A>G	(Likely) benign	4 labs	f6b3b2c690
11:36614905 RAG2 C>G	11	36614905	36614905	C	G	RAG2	c.814G>C	NM_000536.4	NP_000527.2:p.(Val272Leu)	NC_000011.9:g.36614905C>G	VUS	2 labs	7023f054f1
1:226128618 LEFTY2 C>T	1	226128618	226128618	C	T	LEFTY2	c.223G>A	NM_003240.4	NP_003231.2:p.(Gly75Arg)	NC_000001.10:g.226128618C>T	(Likely) benign	2 labs	7026e2f50b
6:157528051 ARID1B C>T	6	157528051	157528051	C	T	ARID1B	c.6025C>T	NM_001371656.1	NP_001358585.1:p.(Arg2009Ter)	NC_000006.11:g.157528051C>T	(Likely) pathogenic	3 labs	7028b66674
13:32913836 BRCA2 C>CA	13	32913836	32913843	C	CA	BRCA2	c.5351dup	NM_000059.4	NP_000050.3:p.(Asn1784LysfsTer3)	NC_000013.10:g.32913843dup	(Likely) pathogenic	3 labs	70308b18ee
4:100512392 MTTP G>A	4	100512392	100512392	G	A	MTTP	c.502G>A	NM_000253.4	NP_000244.2:p.(Val168Ile)	NC_000004.11:g.100512392G>A	(Likely) benign	4 labs	f6bfdfd149
2:27668243 IFT172 G>A	2	27668243	27668243	G	A	IFT172	c.4988C>T	NM_015662.2	NP_056477.1:p.(Pro1663Leu)	NC_000002.11:g.27668243G>A	VUS	2 labs	70373b6761
15:34634324 NOP10 C>G	15	34634324	34634324	C	G	NOP10	c.55-15G>C	NM_018648.4	NP_061118.1:p.?	NC_000015.9:g.34634324C>G	(Likely) benign	2 labs	f6c4a3eab0
9:99015193 HSD17B3 C>G	9	99015193	99015193	C	G	HSD17B3	c.278-1G>C	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99015193C>G	(Likely) pathogenic	3 labs	70408602f8
19:13318357 CACNA1A C>T	19	13318357	13318357	C	T	CACNA1A	c.7309G>A	NM_023035.3	NP_075461.2:p.(Ala2437Thr)	NC_000019.9:g.13318357C>T	(Likely) benign	4 labs	7047d4e85f
2:88879131 EIF2AK3 T>C	2	88879131	88879131	T	C	EIF2AK3	c.1791A>G	NM_004836.7	NP_004827.4:p.(Gln597=)	NC_000002.11:g.88879131T>C	(Likely) benign	3 labs	704a6f191f
X:154213016 F8 G>A	X	154213016	154213016	G	A	F8	c.733C>T	NM_000132.3	NP_000123.1:p.(Arg245Trp)	NC_000023.10:g.154213016G>A	VUS	2 labs	704a8f7c99
22:29121229 CHEK2 AC>A	22	29121229	29121232	AC	A	CHEK2	c.444+1del	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121232del	(Likely) pathogenic	2 labs	704d484d00
11:694955 DEAF1 GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC>G	11	694955	695002	GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCC	G	DEAF1	c.51_92del	NM_021008.4	NP_066288.2:p.(Val19_Ala32del)	NC_000011.9:g.694961_695002del	(Likely) benign	2 labs	f6c777f974
6:150716696 IYD T>C	6	150716696	150716696	T	C	IYD	c.793T>C	NM_001164694.2	NP_001158166.1:p.(Cys265Arg)	NC_000006.11:g.150716696T>C	(Likely) benign	2 labs	f6c93380bb
20:60854319 OSBPL2 A>G	20	60854319	60854319	A	G	OSBPL2	c.598A>G	NM_144498.2	NP_653081.1:p.(Ile200Val)	NC_000020.10:g.60854319A>G	VUS	2 labs	70559b5f01
11:61165280 TMEM216 G>A	11	61165280	61165280	G	A	TMEM216	c.264G>A	NM_001173991.3	NP_001167462.1:p.(Pro88=)	NC_000011.9:g.61165280G>A	(Likely) benign	2 labs	705c27e5cd
1:228565277 OBSCN C>T	1	228565277	228565277	C	T	OBSCN	c.26238C>T	NM_001271223.2	NP_001258152.2:p.(His8746=)	NC_000001.10:g.228565277C>T	(Likely) benign	2 labs	70642b03e9
16:2156425 PKD1 G>A	16	2156425	2156425	G	A	PKD1	c.7463C>T	NM_001009944.2	NP_001009944.2:p.(Thr2488Ile)	NC_000016.9:g.2156425G>A	(Likely) benign	2 labs	706c5e877f
10:50680507 ERCC6 G>A	10	50680507	50680507	G	A	ERCC6	c.2839C>T	NM_000124.2	NP_000115.1:p.(Arg947Ter)	NC_000010.10:g.50680507G>A	(Likely) pathogenic	2 labs	70736b5a28
22:35785929 HMOX1 C>G	22	35785929	35785929	C	G	HMOX1	c.709C>G	NM_002133.2	NP_002124.1:p.(Arg237Gly)	NC_000022.10:g.35785929C>G	(Likely) benign	2 labs	707a2a1fb3
14:53539305 DDHD1 T>A	14	53539305	53539305	T	A	DDHD1	c.1503+10A>T	NM_001160148.1	NP_001153620.1:p.?	NC_000014.8:g.53539305T>A	(Likely) benign	2 labs	7080901cd4
16:88496175 ZNF469 G>A	16	88496175	88496175	G	A	ZNF469	c.2297G>A	NM_001367624.2	NP_001354553.1:p.(Arg766Gln)	NC_000016.9:g.88496175G>A	(Likely) benign	2 labs	707b6c33c2
17:41256281 BRCA1 G>C	17	41256281	41256281	G	C	BRCA1	c.302-3C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256281G>C	(Likely) pathogenic	4 labs	70a1d6020f
7:107314609 SLC26A4 G>C	7	107314609	107314609	G	C	SLC26A4	c.416G>C	NM_000441.1	NP_000432.1:p.(Gly139Ala)	NC_000007.13:g.107314609G>C	(Likely) pathogenic	2 labs	70968c842c
4:126240778 FAT4 T>C	4	126240778	126240778	T	C	FAT4	c.3212T>C	NM_001291303.1	NP_001278232.1:p.(Val1071Ala)	NC_000004.11:g.126240778T>C	(Likely) benign	2 labs	709a104ec2
1:243471186 SDCCAG8 G>T	1	243471186	243471186	G	T	SDCCAG8	c.-164+1G>T	NM_001350251.1	NP_001337180.1:p.?	NC_000001.10:g.243471186G>T	VUS	2 labs	70ae5a6b1d
13:32915240 BRCA2 A>G	13	32915240	32915240	A	G	BRCA2	c.6748A>G	NM_000059.4	NP_000050.3:p.(Thr2250Ala)	NC_000013.10:g.32915240A>G	(Likely) benign	5 labs	70b8e65a97
19:51958922 SIGLEC8 A>T	19	51958922	51958922	A	T	SIGLEC8	c.801T>A	NM_014442.3	NP_055257.2:p.(Asn267Lys)	NC_000019.9:g.51958922A>T	VUS	2 labs	70c4c1a26e
10:73574873 CDH23 C>T	10	73574873	73574873	C	T	CDH23	c.9903C>T	NM_022124.6	NP_071407.4:p.(Pro3301=)	NC_000010.10:g.73574873C>T	(Likely) benign	3 labs	70c3a3eb90
X:41437688 CASK C>T	X	41437688	41437688	C	T	CASK	c.1408G>A	NM_003688.3	NP_003679.2:p.(Gly470Ser)	NC_000023.10:g.41437688C>T	VUS	2 labs	70cbad915c
13:110838875 COL4A1 C>T	13	110838875	110838875	C	T	COL4A1	c.1754G>A	NM_001845.5	NP_001836.3:p.(Arg585His)	NC_000013.10:g.110838875C>T	VUS	2 labs	70cb318661
12:9085589 PHC1 C>T	12	9085589	9085589	C	T	PHC1	c.1536C>T	NM_004426.3	NP_004417.2:p.(Ala512=)	NC_000012.11:g.9085589C>T	(Likely) benign	2 labs	70d04f993d
11:32417936 WT1 A>G	11	32417936	32417936	A	G	WT1				NC_000011.9:g.32417936A>G	(Likely) benign	2 labs	70da70d83d
10:73115845 SLC29A3 C>T	10	73115845	73115845	C	T	SLC29A3	c.618C>T	NM_001174098.1	NP_001167569.1:p.(Ala206=)	NC_000010.10:g.73115845C>T	(Likely) benign	2 labs	70daeb9026
8:72111658 EYA1 G>A	8	72111658	72111658	G	A	EYA1	c.1699-3C>T	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72111658G>A	(Likely) benign	3 labs	70db212d98
12:103246588 PAH C>T	12	103246588	103246588	C	T	PAH	c.842+5G>A	NM_000277.1	NP_000268.1:p.?	NC_000012.11:g.103246588C>T	(Likely) pathogenic	3 labs	70dfa70580
22:50307032 ALG12 C>T	22	50307032	50307032	C	T	ALG12	c.295+1G>A	NM_024105.3	NP_077010.1:p.?	NC_000022.10:g.50307032C>T	(Likely) pathogenic	2 labs	70dfe996af
8:145738805 RECQL4 G>A	8	145738805	145738805	G	A	RECQL4	c.2260C>T	NM_004260.3	NP_004251.3:p.(Arg754Trp)	NC_000008.10:g.145738805G>A	(Likely) benign	2 labs	70e2dffdbb
15:49090134 CEP152 C>T	15	49090134	49090134	C	T	CEP152	c.191+11G>A	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49090134C>T	(Likely) benign	2 labs	70e8b490f4
2:179616284 TTN G>A	2	179616284	179616284	G	A	TTN	c.10843C>T	NM_133379.4	NP_596870.2:p.(Arg3615Trp)	NC_000002.11:g.179616284G>A	VUS	2 labs	70ec2fcaa1
7:151573731 PRKAG2 G>A	7	151573731	151573731	G	A	PRKAG2	c.-26C>T	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151573731G>A	(Likely) benign	2 labs	70f149df1b
10:81928812 ANXA11 C>A	10	81928812	81928812	C	A	ANXA11	c.474G>T	NM_001278408.2	NP_001265337.1:p.(Val158=)	NC_000010.10:g.81928812C>A	(Likely) benign	3 labs	70ea1ea1a9
11:117859165 IL10RA A>G	11	117859165	117859165	A	G	IL10RA	c.136A>G	NM_001558.3	NP_001549.2:p.(Thr46Ala)	NC_000011.9:g.117859165A>G	(Likely) benign	2 labs	7100cc57b6
7:128492926 FLNC G>A	7	128492926	128492926	G	A	FLNC	c.6049G>A	NM_001458.4	NP_001449.3:p.(Val2017Met)	NC_000007.13:g.128492926G>A	VUS	3 labs	71026c8bd3
13:32936830 BRCA2 G>A	13	32936830	32936830	G	A	BRCA2	c.7976G>A	NM_000059.4	NP_000050.3:p.(Arg2659Lys)	NC_000013.10:g.32936830G>A	(Likely) pathogenic	3 labs	710d2976e9
5:14488134 TRIO C>T	5	14488134	14488134	C	T	TRIO	c.7397C>T	NM_007118.3	NP_009049.2:p.(Pro2466Leu)	NC_000005.9:g.14488134C>T	(Likely) benign	2 labs	710d980cfc
1:185278176 IVNS1ABP T>C	1	185278176	185278176	T	C	IVNS1ABP	c.240A>G	NM_006469.5	NP_006460.2:p.(Pro80=)	NC_000001.10:g.185278176T>C	(Likely) benign	2 labs	7110a1279e
1:5993238 NPHP4 T>C	1	5993238	5993238	T	C	NPHP4	c.1271A>G	NM_015102.5	NP_055917.1:p.(Lys424Arg)	NC_000001.10:g.5993238T>C	VUS	3 labs	71141c64da
18:21124916 NPC1 C>CCCCCG	18	21124916	21124917	C	CCCCCG	NPC1	c.1947+7_1947+8insCGGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916_21124917insCCCCG	(Likely) benign	2 labs	711633883e
12:124156614 TCTN2 A>G	12	124156614	124156614	A	G	TCTN2	c.202A>G	NM_024809.4	NP_079085.2:p.(Ile68Val)	NC_000012.11:g.124156614A>G	(Likely) benign	2 labs	711b329e0d
19:18180373 IL12RB1 G>A	19	18180373	18180373	G	A	IL12RB1	c.1292C>T	NM_001290024.1	NP_001276953.1:p.(Pro431Leu)	NC_000019.9:g.18180373G>A	(Likely) benign	2 labs	71234ec1d6
16:88802618 PIEZO1 C>T	16	88802618	88802618	C	T	PIEZO1	c.1495G>A	NM_001142864.4	NP_001136336.2:p.(Val499Ile)	NC_000016.9:g.88802618C>T	(Likely) benign	3 labs	71256a95b1
8:6479178 MCPH1 C>A	8	6479178	6479178	C	A	MCPH1	c.2418C>A	NM_024596.5	NP_078872.3:p.(Ala806=)	NC_000008.10:g.6479178C>A	(Likely) benign	3 labs	7126edd6dc
17:39925713 JUP C>T	17	39925713	39925713	C	T	JUP	c.425G>A	NM_002230.4	NP_002221.1:p.(Arg142His)	NC_000017.10:g.39925713C>T	(Likely) benign	6 labs	7132eb0137
2:179425791 TTN T>C	2	179425791	179425791	T	C	TTN	c.85068A>G	NM_001267550.1	NP_001254479.1:p.(Arg28356=)	NC_000002.11:g.179425791T>C	(Likely) benign	2 labs	7133b8ccb1
3:63973930 ATXN7 G>A	3	63973930	63973930	G	A	ATXN7	c.1291G>A	NM_000333.3	NP_000324.1:p.(Gly431Arg)	NC_000003.11:g.63973930G>A	VUS	2 labs	713c6a4b30
7:117227856 CFTR G>T	7	117227856	117227856	G	T	CFTR	c.1648G>T	NM_000492.3	NP_000483.3:p.(Gly550Ter)	NC_000007.13:g.117227856G>T	(Likely) pathogenic	2 labs	713db15146
2:215593543 BARD1 G>A	2	215593543	215593543	G	A	BARD1	c.2134C>T	NM_001282543.1	NP_001269472.1:p.(Arg712Cys)	NC_000002.11:g.215593543G>A	VUS	2 labs	7140b20b40
5:88024416 MEF2C A>G	5	88024416	88024416	A	G	MEF2C	c.994T>C	NM_002397.5	NP_002388.2:p.(Ser332Pro)	NC_000005.9:g.88024416A>G	VUS	2 labs	f6f78e0bb2
10:95381773 PDE6C T>A	10	95381773	95381773	T	A	PDE6C	c.808T>A	NM_006204.4	NP_006195.3:p.(Ser270Thr)	NC_000010.10:g.95381773T>A	(Likely) benign	2 labs	f6fb082369
19:55451613 NLRP7 T>G	19	55451613	55451613	T	G	NLRP7	c.574A>C	NM_001127255.1	NP_001120727.1:p.(Met192Leu)	NC_000019.9:g.55451613T>G	(Likely) benign	2 labs	7146ce5b46
7:117175339 CFTR T>G	7	117175339	117175339	T	G	CFTR	c.617T>G	NM_000492.4	NP_000483.3:p.(Leu206Trp)	NC_000007.13:g.117175339T>G	(Likely) pathogenic	3 labs	714e925ca9
4:79428571 FRAS1 G>A	4	79428571	79428571	G	A	FRAS1	c.9317-4G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79428571G>A	(Likely) benign	2 labs	7148c47171
X:41419083 CASK A>G	X	41419083	41419083	A	G	CASK	c.1686T>C	NM_001367721.1	NP_001354650.1:p.(Ser562=)	NC_000023.10:g.41419083A>G	(Likely) benign	2 labs	7158e5128a
14:81422124 TSHR G>A	14	81422124	81422124	G	A	TSHR	c.100G>A	NM_000369.4	NP_000360.2:p.(Glu34Lys)	NC_000014.8:g.81422124G>A	VUS	2 labs	7157fcefdb
22:37332629 CSF2RB G>A	22	37332629	37332629	G	A	CSF2RB	c.1503G>A	NM_000395.2	NP_000386.1:p.(Ser501=)	NC_000022.10:g.37332629G>A	(Likely) benign	2 labs	7166e44c32
2:179640171 TTN A>T	2	179640171	179640171	A	T	TTN	c.6420T>A	NM_001267550.2	NP_001254479.2:p.(Asp2140Glu)	NC_000002.11:g.179640171A>T	VUS	4 labs	f6ffaa878e
17:41256985 BRCA1 T>C	17	41256985	41256985	T	C	BRCA1	c.213-12A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256985T>C	(Likely) pathogenic	4 labs	7174adf1ae
12:120138583 CIT C>T	12	120138583	120138583	C	T	CIT	c.5590G>A	NM_001206999.1	NP_001193928.1:p.(Asp1864Asn)	NC_000012.11:g.120138583C>T	VUS	2 labs	71710f4761
15:78403608 CIB2 G>A	15	78403608	78403608	G	A	CIB2	c.97C>T	NM_006383.4	NP_006374.1:p.(Arg33Ter)	NC_000015.9:g.78403608G>A	(Likely) pathogenic	3 labs	716b595aae
22:19165823 SLC25A1 C>G	22	19165823	19165823	C	G	SLC25A1	c.46G>C	NM_001256534.2	NP_001243463.1:p.(Gly16Arg)	NC_000022.10:g.19165823C>G	(Likely) benign	2 labs	716cdef1d2
2:179584372 TTN G>A	2	179584372	179584372	G	A	TTN	c.23847C>T	NM_001267550.2	NP_001254479.2:p.(Pro7949=)	NC_000002.11:g.179584372G>A	(Likely) benign	2 labs	7177a7b52b
15:44865000 SPG11 T>C	15	44865000	44865000	T	C	SPG11	c.6224A>G	NM_025137.4	NP_079413.3:p.(Asn2075Ser)	NC_000015.9:g.44865000T>C	(Likely) benign	5 labs	f704139759
16:3304317 MEFV C>T	16	3304317	3304317	C	T	MEFV	c.751G>A	NM_000243.2	NP_000234.1:p.(Glu251Lys)	NC_000016.9:g.3304317C>T	VUS	2 labs	7179615876
19:39057626 RYR1 G>C	19	39057626	39057626	G	C	RYR1	c.13513G>C	NM_000540.3	NP_000531.2:p.(Asp4505His)	NC_000019.9:g.39057626G>C	(Likely) benign	5 labs	7187e2cbd2
6:157527482 ARID1B A>C	6	157527482	157527482	A	C	ARID1B	c.5207A>C	NM_020732.3	NP_065783.3:p.(Glu1736Ala)	NC_000006.11:g.157527482A>C	(Likely) benign	2 labs	7189f41531
2:50850536 NRXN1 G>C	2	50850536	50850536	G	C	NRXN1	c.1149C>G	NM_001135659.2	NP_001129131.1:p.(Ala383=)	NC_000002.11:g.50850536G>C	(Likely) benign	2 labs	71908b089d
4:100530096 MTTP C>T	4	100530096	100530096	C	T	MTTP	c.1731C>T	NM_000253.4	NP_000244.2:p.(Ala577=)	NC_000004.11:g.100530096C>T	(Likely) benign	2 labs	719708f8c5
12:94772764 CEP83 C>G	12	94772764	94772764	C	G	CEP83	c.604G>C	NM_016122.2	NP_057206.2:p.(Asp202His)	NC_000012.11:g.94772764C>G	VUS	2 labs	719f3e9260
7:73477545 ELN G>A	7	73477545	73477545	G	A	ELN	c.2035G>A	NM_001278939.1	NP_001265868.1:p.(Gly679Ser)	NC_000007.13:g.73477545G>A	(Likely) benign	2 labs	71acadf49b
12:114804166 TBX5 G>A	12	114804166	114804166	G	A	TBX5	c.786C>T	NM_000192.3	NP_000183.2:p.(Thr262=)	NC_000012.11:g.114804166G>A	(Likely) benign	2 labs	71bb0469bd
14:23900984 MYH7 G>T	14	23900984	23900984	G	T	MYH7	c.625C>A	NM_000257.2	NP_000248.2:p.(Gln209Lys)	NC_000014.8:g.23900984G>T	VUS	2 labs	71c157ccfc
18:20548878 RBBP8 C>T	18	20548878	20548878	C	T	RBBP8	c.358C>T	NM_002894.2	NP_002885.1:p.(Leu120Phe)	NC_000018.9:g.20548878C>T	VUS	2 labs	71c36ed662
X:2878414 ARSL C>G	X	2878414	2878414	C	G	ARSL	c.23+5G>C	NM_000047.3	NP_000038.2:p.?	NC_000023.10:g.2878414C>G	(Likely) benign	3 labs	71d007e411
11:76868046 MYO7A G>A	11	76868046	76868046	G	A	MYO7A	c.731G>A	NM_000260.3	NP_000251.3:p.(Arg244His)	NC_000011.9:g.76868046G>A	VUS	3 labs	71d0def337
9:123170703 CDK5RAP2 T>C	9	123170703	123170703	T	C	CDK5RAP2	c.4648A>G	NM_018249.5	NP_060719.4:p.(Asn1550Asp)	NC_000009.11:g.123170703T>C	VUS	2 labs	71d884681a
19:54299207 NLRP12 C>T	19	54299207	54299207	C	T	NLRP12	c.3007G>A	NM_001277126.1	NP_001264055.1:p.(Asp1003Asn)	NC_000019.9:g.54299207C>T	(Likely) benign	2 labs	71e0b1d3d3
13:20763170 GJB2 C>T	13	20763170	20763170	C	T	GJB2	c.551G>A	NM_004004.6	NP_003995.2:p.(Arg184Gln)	NC_000013.10:g.20763170C>T	(Likely) pathogenic	2 labs	71e7176826
1:94564441 ABCA4 C>T	1	94564441	94564441	C	T	ABCA4	c.677G>A	NM_000350.2	NP_000341.2:p.(Arg226His)	NC_000001.10:g.94564441C>T	VUS	2 labs	71f0e91b6a
5:67575490 PIK3R1 G>A	5	67575490	67575490	G	A	PIK3R1	c.563G>A	NM_181523.2	NP_852664.1:p.(Arg188His)	NC_000005.9:g.67575490G>A	VUS	2 labs	71f94856a4
3:49456796 AMT T>A	3	49456796	49456796	T	A	AMT	c.593A>T	NM_000481.3	NP_000472.2:p.(Asp198Val)	NC_000003.11:g.49456796T>A	VUS	2 labs	71fdcf3dd8
3:135969266 PCCB C>A	3	135969266	135969266	C	A	PCCB	c.49C>A	NM_001178014.1	NP_001171485.1:p.(Leu17Met)	NC_000003.11:g.135969266C>A	(Likely) benign	2 labs	7207e4e525
2:202611479 ALS2 G>A	2	202611479	202611479	G	A	ALS2	c.1816-8C>T	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202611479G>A	(Likely) benign	3 labs	7205fb7c8a
16:5128790 ALG1 C>T	16	5128790	5128790	C	T	ALG1	c.773C>T	NM_019109.4	NP_061982.3:p.(Ser258Leu)	NC_000016.9:g.5128790C>T	(Likely) pathogenic	2 labs	7219ace2e4
16:8895679 PMM2 C>G	16	8895679	8895679	C	G	PMM2	c.90C>G	NM_000303.2	NP_000294.1:p.(Asp30Glu)	NC_000016.9:g.8895679C>G	(Likely) benign	2 labs	72216f8d1b
2:47635538 MSH2 A>G	2	47635538	47635538	A	G	MSH2	c.212-2A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47635538A>G	(Likely) pathogenic	2 labs	722c1228d4
X:152969530 BCAP31 T>A	X	152969530	152969530	T	A	BCAP31	c.562A>T	NM_001139457.2	NP_001132929.1:p.(Thr188Ser)	NC_000023.10:g.152969530T>A	(Likely) benign	2 labs	72333c602e
16:89598372 SPG7 C>A	16	89598372	89598372	C	A	SPG7	c.1048C>A	NM_003119.3	NP_003110.1:p.(Pro350Thr)	NC_000016.9:g.89598372C>A	VUS	2 labs	7236ae7b30
2:216199674 ATIC G>A	2	216199674	216199674	G	A	ATIC	c.955G>A	NM_004044.6	NP_004035.2:p.(Val319Ile)	NC_000002.11:g.216199674G>A	(Likely) benign	2 labs	723d9e70b7
19:11687298 ACP5 A>C	19	11687298	11687298	A	C	ACP5	c.495T>G	NM_001111035.2	NP_001104505.1:p.(Asp165Glu)	NC_000019.9:g.11687298A>C	(Likely) benign	2 labs	723ec3f142
2:241679488 KIF1A G>A	2	241679488	241679488	G	A	KIF1A	c.3888C>T	NM_001244008.2	NP_001230937.1:p.(Arg1296=)	NC_000002.11:g.241679488G>A	(Likely) benign	5 labs	f738b424a9
18:56002775 NEDD4L G>T	18	56002775	56002775	G	T	NEDD4L	c.1125+6G>T	NM_001144967.2	NP_001138439.1:p.?	NC_000018.9:g.56002775G>T	(Likely) benign	2 labs	724eb01209
5:13894894 DNAH5 T>A	5	13894894	13894894	T	A	DNAH5	c.2296A>T	NM_001369.3	NP_001360.1:p.(Ile766Leu)	NC_000005.9:g.13894894T>A	(Likely) benign	2 labs	7252582ef2
4:79443833 FRAS1 CAGAAGTGA>C	4	79443833	79443842	CAGAAGTGA	C	FRAS1	c.10681_10688del	NM_025074.7	NP_079350.5:p.(Glu3561IlefsTer13)	NC_000004.11:g.79443835_79443842del	(Likely) pathogenic	2 labs	725643a085
22:36661354 APOL1 C>T	22	36661354	36661354	C	T	APOL1	c.520C>T	NM_145343.2	NP_663318.1:p.(Leu174Phe)	NC_000022.10:g.36661354C>T	(Likely) benign	3 labs	725e73a81b
2:191859910 STAT1 C>T	2	191859910	191859910	C	T	STAT1	c.821G>A	NM_007315.3	NP_009330.1:p.(Arg274Gln)	NC_000002.11:g.191859910C>T	(Likely) pathogenic	2 labs	7260793b25
6:7584617 DSP C>T	6	7584617	7584617	C	T	DSP	c.7122C>T	NM_004415.4	NP_004406.2:p.(Thr2374=)	NC_000006.11:g.7584617C>T	(Likely) benign	5 labs	f73bd54dc3
12:2788717 CACNA1C G>A	12	2788717	2788717	G	A	CACNA1C	c.5343G>A	NM_199460.4	NP_955630.3:p.(Ala1781=)	NC_000012.11:g.2788717G>A	(Likely) benign	3 labs	7265392b2b
10:8106017 GATA3 G>C	10	8106017	8106017	G	C	GATA3	c.840G>C	NM_001002295.1	NP_001002295.1:p.(Thr280=)	NC_000010.10:g.8106017G>C	(Likely) benign	2 labs	726cd51cbc
16:9857094 GRIN2A T>C	16	9857094	9857094	T	C	GRIN2A	c.4307A>G	NM_001134407.3	NP_001127879.1:p.(Asn1436Ser)	NC_000016.9:g.9857094T>C	(Likely) benign	3 labs	72751f7c02
13:20763650 GJB2 C>T	13	20763650	20763650	C	T	GJB2	c.71G>A	NM_004004.6	NP_003995.2:p.(Trp24Ter)	NC_000013.10:g.20763650C>T	(Likely) pathogenic	2 labs	7277d79729
9:32526156 RIGI G>A	9	32526156	32526156	G	A	RIGI	c.9C>T	NM_014314.3	NP_055129.2:p.(Thr3=)	NC_000009.11:g.32526156G>A	(Likely) benign	2 labs	727b5fdd1b
2:179504760 TTN G>T	2	179504760	179504760	G	T	TTN	c.40786+15C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179504760G>T	(Likely) benign	2 labs	727951f98e
22:19929263 TXNRD2 C>T	22	19929263	19929263	C	T	TXNRD2	c.64G>A	NM_006440.5	NP_006431.2:p.(Val22Met)	NC_000022.10:g.19929263C>T	(Likely) benign	3 labs	72820b445f
18:32400878 DTNA G>A	18	32400878	32400878	G	A	DTNA	c.1000G>A	NM_001198939.2	NP_001185868.1:p.(Val334Met)	NC_000018.9:g.32400878G>A	(Likely) benign	3 labs	7282415390
12:102157978 GNPTAB A>C	12	102157978	102157978	A	C	GNPTAB	c.2715+2T>G	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102157978A>C	(Likely) pathogenic	2 labs	7285e2024b
X:153187267 ARHGAP4 G>A	X	153187267	153187267	G	A	ARHGAP4	c.68-5C>T	NM_001164741.2	NP_001158213.1:p.?	NC_000023.10:g.153187267G>A	(Likely) benign	2 labs	7288a6b3d6
11:77825024 ALG8 G>A	11	77825024	77825024	G	A	ALG8	c.685C>T	NM_024079.5	NP_076984.2:p.(Arg229Ter)	NC_000011.9:g.77825024G>A	(Likely) pathogenic	3 labs	72963da7e2
7:155595802 SHH C>T	7	155595802	155595802	C	T	SHH	c.1181G>A	NM_000193.3	NP_000184.1:p.(Arg394His)	NC_000007.13:g.155595802C>T	(Likely) benign	2 labs	7291d3481a
X:153585881 FLNA G>A	X	153585881	153585881	G	A	FLNA	c.4866C>T	NM_001110556.2	NP_001104026.1:p.(Tyr1622=)	NC_000023.10:g.153585881G>A	(Likely) benign	2 labs	7293f7850c
X:53575176 HUWE1 C>T	X	53575176	53575176	C	T	HUWE1	c.10094G>A	NM_031407.6	NP_113584.3:p.(Arg3365Gln)	NC_000023.10:g.53575176C>T	VUS	2 labs	72aa52d1e4
1:243736226 AKT3 A>T	1	243736226	243736226	A	T	AKT3				NC_000001.10:g.243736226A>T	(Likely) benign	2 labs	737cfb5aa8
18:21153530 NPC1 T>C	18	21153530	21153530	T	C	NPC1	c.66A>G	NM_000271.5	NP_000262.2:p.(Ser22=)	NC_000018.9:g.21153530T>C	(Likely) benign	3 labs	72b72c87ac
15:100695390 ADAMTS17 G>T	15	100695390	100695390	G	T	ADAMTS17	c.1317C>A	NM_139057.3	NP_620688.2:p.(Phe439Leu)	NC_000015.9:g.100695390G>T	VUS	2 labs	72b2f6051c
21:47538960 COL6A2 G>A	21	47538960	47538960	G	A	COL6A2	c.1196G>A	NM_058175.3	NP_478055.2:p.(Ser399Asn)	NC_000021.8:g.47538960G>A	(Likely) benign	3 labs	f7460ffa9b
19:1615716 TCF3 T>C	19	1615716	1615716	T	C	TCF3	c.1555A>G	NM_003200.5	NP_003191.1:p.(Lys519Glu)	NC_000019.9:g.1615716T>C	(Likely) benign	2 labs	72bb73d195
4:88537349 DSPP A>G	4	88537349	88537349	A	G	DSPP	c.3535A>G	NM_014208.3	NP_055023.2:p.(Asn1179Asp)	NC_000004.11:g.88537349A>G	(Likely) benign	2 labs	72c18d0b8b
5:94852687 SKIC3 G>A	5	94852687	94852687	G	A	SKIC3	c.2369C>T	NM_014639.4	NP_055454.1:p.(Ala790Val)	NC_000005.9:g.94852687G>A	(Likely) benign	2 labs	f74bfa91f1
8:10467680 RP1L1 TTCCTTC>T	8	10467680	10467687	TTCCTTC	T	RP1L1	c.3922_3927del	NM_178857.6	NP_849188.4:p.(Glu1308_Gly1309del)	NC_000008.10:g.10467682_10467687del	VUS	2 labs	f750902571
5:172659673 NKX2-5 AGTT>A	5	172659673	172659683	AGTT	A	NKX2-5	c.871_873del	NM_004387.4	NP_004378.1:p.(Asn291del)	NC_000005.9:g.172659681_172659683del	VUS	2 labs	f750a09b69
10:73406294 CDH23 C>T	10	73406294	73406294	C	T	CDH23	c.1369C>T	NM_022124.5	NP_071407.4:p.(Arg457Trp)	NC_000010.10:g.73406294C>T	VUS	2 labs	72dc4dac20
18:55373793 ATP8B1 C>T	18	55373793	55373793	C	T	ATP8B1	c.208G>A	NM_005603.6	NP_005594.2:p.(Asp70Asn)	NC_000018.9:g.55373793C>T	(Likely) benign	2 labs	72dc7b3452
12:53494940 IGFBP6 G>A	12	53494940	53494940	G	A	IGFBP6	c.596G>A	NM_002178.3	NP_002169.1:p.(Arg199Gln)	NC_000012.11:g.53494940G>A	(Likely) benign	2 labs	72e21fb192
18:7010348 LAMA1 C>T	18	7010348	7010348	C	T	LAMA1	c.3724G>A	NM_005559.3	NP_005550.2:p.(Ala1242Thr)	NC_000018.9:g.7010348C>T	(Likely) benign	2 labs	72eea426c8
7:2552881 LFNG A>AGATGGATG	7	2552881	2552909	A	AGATGGATG	LFNG	c.159_166dup	NM_001166355.2	NP_001159827.1:p.(Glu56GlyfsTer144)	NC_000007.13:g.2552902_2552909dup	VUS	3 labs	72f30133ac
6:64694354 EYS C>T	6	64694354	64694354	C	T	EYS	c.6977G>A	NM_001142800.2	NP_001136272.1:p.(Arg2326Gln)	NC_000006.11:g.64694354C>T	(Likely) benign	3 labs	72faab2a18
11:76804776 CAPN5 G>A	11	76804776	76804776	G	A	CAPN5	c.214G>A	NM_004055.5	NP_004046.2:p.(Asp72Asn)	NC_000011.9:g.76804776G>A	(Likely) benign	2 labs	72f69e6554
X:18925165 PHKA2 C>A	X	18925165	18925165	C	A	PHKA2	c.2568G>T	NM_000292.2	NP_000283.1:p.(Pro856=)	NC_000023.10:g.18925165C>A	(Likely) benign	2 labs	72fd1b7c47
X:6451842 VCX3A G>C	X	6451842	6451842	G	C	VCX3A	c.505C>G	NM_016379.3	NP_057463.2:p.(Gln169Glu)	NC_000023.10:g.6451842G>C	(Likely) benign	2 labs	72ff9c9f0e
1:5965455 NPHP4 C>T	1	5965455	5965455	C	T	NPHP4	c.1852G>A	NM_015102.4	NP_055917.1:p.(Glu618Lys)	NC_000001.10:g.5965455C>T	(Likely) benign	3 labs	7302313e1f
X:47433682 SYN1 T>A	X	47433682	47433682	T	A	SYN1	c.1701A>T	NM_006950.3	NP_008881.2:p.(Thr567=)	NC_000023.10:g.47433682T>A	(Likely) benign	2 labs	730b76a708
1:207649609 CR2 C>T	1	207649609	207649609	C	T	CR2	c.2747C>T	NM_001006658.2	NP_001006659.1:p.(Thr916Ile)	NC_000001.10:g.207649609C>T	(Likely) benign	2 labs	730fa5d980
11:94212930 MRE11 T>TA	11	94212930	94212941	T	TA	MRE11	c.315-4dup	NM_005591.3	NP_005582.1:p.?	NC_000011.9:g.94212941dup	(Likely) benign	2 labs	7317638e16
2:170048473 LRP2 G>C	2	170048473	170048473	G	C	LRP2	c.8901C>G	NM_004525.3	NP_004516.2:p.(Pro2967=)	NC_000002.11:g.170048473G>C	(Likely) benign	3 labs	732bce7021
11:94192599 MRE11 G>T	11	94192599	94192599	G	T	MRE11	c.1475C>A	NM_005591.3	NP_005582.1:p.(Ala492Asp)	NC_000011.9:g.94192599G>T	(Likely) benign	3 labs	733a9c25f8
11:2946335 SLC67A1 G>A	11	2946335	2946335	G	A	SLC67A1	c.1183G>A	NM_183233.2	NP_899056.2:p.(Val395Ile)	NC_000011.9:g.2946335G>A	(Likely) benign	2 labs	733c59e458
2:202082459 CASP10 T>A	2	202082459	202082459	T	A	CASP10	c.1564T>A	NM_032977.4	NP_116759.2:p.(Leu522Ile)	NC_000002.11:g.202082459T>A	(Likely) benign	2 labs	f786cc0a72
10:85961593 CDHR1 C>T	10	85961593	85961593	C	T	CDHR1	c.556C>T	NM_033100.4	NP_149091.1:p.(His186Tyr)	NC_000010.10:g.85961593C>T	VUS	2 labs	734787409a
12:124179417 TCTN2 T>C	12	124179417	124179417	T	C	TCTN2	c.1128T>C	NM_024809.5	NP_079085.2:p.(Pro376=)	NC_000012.11:g.124179417T>C	(Likely) benign	2 labs	7351deade3
11:65637984 EFEMP2 C>G	11	65637984	65637984	C	G	EFEMP2	c.490+23G>C	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65637984C>G	(Likely) benign	2 labs	735ea466d0
2:239253177 TRAF3IP1 A>C	2	239253177	239253177	A	C	TRAF3IP1	c.1199A>C	NM_015650.3	NP_056465.2:p.(Asp400Ala)	NC_000002.11:g.239253177A>C	(Likely) benign	2 labs	7361949249
X:70443792 GJB1 C>T	X	70443792	70443792	C	T	GJB1	c.235C>T	NM_000166.6	NP_000157.1:p.(Leu79=)	NC_000023.10:g.70443792C>T	(Likely) benign	3 labs	7358ea46c7
17:44060834 MAPT C>A	17	44060834	44060834	C	A	MAPT	c.664C>A	NM_001123066.4	NP_001116538.2:p.(Arg222Ser)	NC_000017.10:g.44060834C>A	(Likely) benign	2 labs	7365aa0e08
15:94943149 MCTP2 G>C	15	94943149	94943149	G	C	MCTP2	c.1891-1G>C	NM_018349.4	NP_060819.3:p.?	NC_000015.9:g.94943149G>C	VUS	3 labs	7374be2231
13:110850860 COL4A1 C>T	13	110850860	110850860	C	T	COL4A1	c.1239G>A	NM_001845.5	NP_001836.3:p.(Pro413=)	NC_000013.10:g.110850860C>T	(Likely) benign	2 labs	737236e37b
16:81969829 PLCG2 C>T	16	81969829	81969829	C	T	PLCG2	c.2898C>T	NM_002661.3	NP_002652.2:p.(Ile966=)	NC_000016.9:g.81969829C>T	(Likely) benign	2 labs	7373d5e932
17:41201133 BRCA1 C>T	17	41201133	41201133	C	T	BRCA1	c.5406+5G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41201133C>T	(Likely) pathogenic	3 labs	73799ef00c
3:129225283 IFT122 G>A	3	129225283	129225283	G	A	IFT122	c.2835G>A	NM_052985.3	NP_443711.2:p.(Ala945=)	NC_000003.11:g.129225283G>A	(Likely) benign	2 labs	738c5f9d7a
7:16298624 CRPPA G>T	7	16298624	16298624	G	T	CRPPA	c.947C>A	NM_001101426.3	NP_001094896.1:p.(Thr316Lys)	NC_000007.13:g.16298624G>T	(Likely) benign	2 labs	7391ab0d30
17:29556971 NF1 CAAT>C	17	29556971	29556974	CAAT	C	NF1	c.2970_2972del	NM_001042492.3	NP_001035957.1:p.(Met992del)	NC_000017.10:g.29556972_29556974del	(Likely) pathogenic	2 labs	7393ffcfb6
15:89401747 ACAN G>T	15	89401747	89401747	G	T	ACAN	c.5931G>T	NM_013227.3	NP_037359.3:p.(Glu1977Asp)	NC_000015.9:g.89401747G>T	(Likely) benign	2 labs	739bb9d918
16:2147325 PKD1 G>A	16	2147325	2147325	G	A	PKD1	c.10400C>T	NM_001009944.2	NP_001009944.2:p.(Ala3467Val)	NC_000016.9:g.2147325G>A	(Likely) benign	2 labs	739c351330
11:64368384 SLC22A12 C>T	11	64368384	64368384	C	T	SLC22A12	c.1572C>T	NM_144585.3	NP_653186.2:p.(Pro524=)	NC_000011.9:g.64368384C>T	(Likely) benign	2 labs	739dbd0b37
X:109694437 RTL9 C>G	X	109694437	109694437	C	G	RTL9	c.592C>G	NM_020769.2	NP_065820.1:p.(Pro198Ala)	NC_000023.10:g.109694437C>G	(Likely) benign	2 labs	73a0b75864
15:41364208 INO80 G>A	15	41364208	41364208	G	A	INO80	c.1444C>T	NM_017553.3	NP_060023.1:p.(Arg482Trp)	NC_000015.9:g.41364208G>A	VUS	2 labs	f7953135ae
1:20975710 PINK1 C>T	1	20975710	20975710	C	T	PINK1	c.1474C>T	NM_032409.3	NP_115785.1:p.(Arg492Ter)	NC_000001.10:g.20975710C>T	(Likely) pathogenic	2 labs	73c8257bef
5:147496003 SPINK5 AGTG>A	5	147496003	147496013	AGTG	A	SPINK5	c.2094_2096del	NM_001127698.2	NP_001121170.1:p.(Gly701del)	NC_000005.9:g.147496011_147496013del	(Likely) benign	3 labs	f79a9bcf10
X:135115628 SLC9A6 G>A	X	135115628	135115628	G	A	SLC9A6	c.1703G>A	NM_001042537.2	NP_001036002.1:p.(Arg568Gln)	NC_000023.10:g.135115628G>A	(Likely) benign	4 labs	73c92f2b1c
X:136648899 ZIC3 G>T	X	136648899	136648899	G	T	ZIC3	c.49G>T	NM_003413.4	NP_003404.1:p.(Gly17Cys)	NC_000023.10:g.136648899G>T	(Likely) benign	4 labs	73d0df0e0c
1:27695877 FCN3 G>A	1	27695877	27695877	G	A	FCN3	c.750C>T	NM_003665.2	NP_003656.2:p.(His250=)	NC_000001.10:g.27695877G>A	(Likely) benign	2 labs	73d4339750
7:128492705 FLNC A>C	7	128492705	128492705	A	C	FLNC	c.5903A>C	NM_001458.4	NP_001449.3:p.(Lys1968Thr)	NC_000007.13:g.128492705A>C	VUS	2 labs	73d58c0973
5:13719089 DNAH5 G>A	5	13719089	13719089	G	A	DNAH5	c.12401C>T	NM_001369.3	NP_001360.1:p.(Ala4134Val)	NC_000005.9:g.13719089G>A	(Likely) benign	2 labs	73e0a52eb1
11:103018629 DYNC2H1 T>C	11	103018629	103018629	T	C	DYNC2H1	c.2818+13T>C	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103018629T>C	(Likely) benign	2 labs	73ea3bb0b0
17:78085911 GAA G>A	17	78085911	78085911	G	A	GAA	c.1754+12G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78085911G>A	(Likely) benign	2 labs	73f7cd7482
1:2161057 SKI C>T	1	2161057	2161057	C	T	SKI	c.852C>T	NM_003036.3	NP_003027.1:p.(Tyr284=)	NC_000001.10:g.2161057C>T	(Likely) benign	2 labs	73fa9c3d37
20:49509094 ADNP G>C	20	49509094	49509094	G	C	ADNP	c.2157C>G	NM_015339.5	NP_056154.1:p.(Tyr719Ter)	NC_000020.10:g.49509094G>C	(Likely) pathogenic	2 labs	f7a0c81ad5
1:11854918 MTHFR C>T	1	11854918	11854918	C	T	MTHFR	c.1157G>A	NM_001330358.1	NP_001317287.1:p.(Arg386His)	NC_000001.10:g.11854918C>T	VUS	2 labs	73ff62da5a
7:2566503 LFNG C>T	7	2566503	2566503	C	T	LFNG	c.1021C>T	NM_001040167.2	NP_001035257.1:p.(Arg341Trp)	NC_000007.13:g.2566503C>T	(Likely) benign	2 labs	740496275c
7:103389908 RELN G>A	7	103389908	103389908	G	A	RELN	c.621C>T	NM_005045.4	NP_005036.2:p.(Asp207=)	NC_000007.13:g.103389908G>A	(Likely) benign	2 labs	73fd2b1b5b
X:153296882 MECP2 G>A	X	153296882	153296882	G	A	MECP2	c.397C>T	NM_004992.4	NP_004983.1:p.(Arg133Cys)	NC_000023.10:g.153296882G>A	(Likely) pathogenic	4 labs	7414042f48
17:41244217 BRCA1 GCTT>G	17	41244217	41244220	GCTT	G	BRCA1	c.3328_3330del	NM_007294.4	NP_009225.1:p.(Lys1110del)	NC_000017.10:g.41244218_41244220del	(Likely) benign	3 labs	f7a44e53d7
2:128046975 ERCC3 G>A	2	128046975	128046975	G	A	ERCC3	c.568C>T	NM_001303418.1	NP_001290347.1:p.(Gln190Ter)	NC_000002.11:g.128046975G>A	(Likely) pathogenic	2 labs	7419cc04e0
4:126408529 FAT4 C>T	4	126408529	126408529	C	T	FAT4	c.12852C>T	NM_001291303.3	NP_001278232.1:p.(Ser4284=)	NC_000004.11:g.126408529C>T	(Likely) benign	2 labs	740f620666
7:151962134 KMT2C G>T	7	151962134	151962134	G	T	KMT2C	c.1173C>A	NM_170606.3	NP_733751.2:p.(Cys391Ter)	NC_000007.13:g.151962134G>T	(Likely) benign	3 labs	74139b599d
X:100658921 GLA C>T	X	100658921	100658921	C	T	GLA	c.247G>A	NM_000169.3	NP_000160.1:p.(Asp83Asn)	NC_000023.10:g.100658921C>T	VUS	2 labs	74393667d0
15:73027478 BBS4 T>C	15	73027478	73027478	T	C	BBS4	c.1061T>C	NM_033028.5	NP_149017.2:p.(Ile354Thr)	NC_000015.9:g.73027478T>C	(Likely) benign	2 labs	74410b1524
12:974308 WNK1 T>TC	12	974308	974311	T	TC	WNK1	c.2175dup	NM_213655.5	NP_998820.3:p.(Ile726HisfsTer45)	NC_000012.11:g.974311dup	(Likely) benign	3 labs	7445465efb
1:247587870 NLRP3 G>A	1	247587870	247587870	G	A	NLRP3	c.1119G>A	NM_001243133.1	NP_001230062.1:p.(Glu373=)	NC_000001.10:g.247587870G>A	(Likely) benign	2 labs	7443c004c2
4:128842824 MFSD8 G>A	4	128842824	128842824	G	A	MFSD8	c.1205C>T	NM_152778.3	NP_689991.1:p.(Ser402Leu)	NC_000004.11:g.128842824G>A	VUS	3 labs	744c9100aa
2:212543924 ERBB4 A>G	2	212543924	212543924	A	G	ERBB4	c.1490-15T>C	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212543924A>G	(Likely) benign	2 labs	744f905641
15:67073642 SMAD6 C>T	15	67073642	67073642	C	T	SMAD6	c.1260C>T	NM_005585.4	NP_005576.3:p.(Pro420=)	NC_000015.9:g.67073642C>T	(Likely) benign	3 labs	7456f7a51f
15:23892251 MAGEL2 T>G	15	23892251	23892251	T	G	MAGEL2	c.639A>C	NM_019066.5	NP_061939.3:p.(Pro213=)	NC_000015.9:g.23892251T>G	(Likely) benign	2 labs	7453813965
1:3329293 PRDM16 G>A	1	3329293	3329293	G	A	PRDM16	c.2532G>A	NM_022114.3	NP_071397.3:p.(Pro844=)	NC_000001.10:g.3329293G>A	(Likely) benign	2 labs	74594722fb
2:20166590 WDR35 C>T	2	20166590	20166590	C	T	WDR35	c.1089G>A	NM_001006657.1	NP_001006658.1:p.(Thr363=)	NC_000002.11:g.20166590C>T	(Likely) benign	2 labs	745ac005d2
1:103354147 COL11A1 G>C	1	103354147	103354147	G	C	COL11A1	c.4594C>G	NM_001854.4	NP_001845.3:p.(Pro1532Ala)	NC_000001.10:g.103354147G>C	VUS	3 labs	f7ab5de938
3:3179126 TRNT1 A>G	3	3179126	3179126	A	G	TRNT1	c.331A>G	NM_182916.3	NP_886552.3:p.(Ile111Val)	NC_000003.11:g.3179126A>G	(Likely) benign	2 labs	74636577fc
11:640138 DRD4 C>G	11	640138	640138	C	G	DRD4	c.889C>G	NM_000797.3	NP_000788.2:p.(Pro297Ala)	NC_000011.9:g.640138C>G	(Likely) benign	2 labs	746551eae0
8:145737705 RECQL4 C>T	8	145737705	145737705	C	T	RECQL4	c.3058G>A	NM_004260.3	NP_004251.3:p.(Val1020Met)	NC_000008.10:g.145737705C>T	(Likely) benign	2 labs	7466007d47
2:179451420 TTN G>A	2	179451420	179451420	G	A	TTN	c.64208C>T	NM_001267550.2	NP_001254479.2:p.(Thr21403Ile)	NC_000002.11:g.179451420G>A	(Likely) benign	3 labs	746b920996
3:49158770 LAMB2 A>G	3	49158770	49158770	A	G	LAMB2	c.5286T>C	NM_002292.3	NP_002283.3:p.(Asn1762=)	NC_000003.11:g.49158770A>G	(Likely) benign	2 labs	746d743f35
19:36575645 WDR62 G>A	19	36575645	36575645	G	A	WDR62	c.1641G>A	NM_001083961.1	NP_001077430.1:p.(Thr547=)	NC_000019.9:g.36575645G>A	(Likely) benign	2 labs	74746fa8cd
9:32974570 APTX G>GA	9	32974570	32974579	G	GA	APTX	c.771-12dup	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32974579dup	(Likely) benign	3 labs	746b9edeab
2:240033391 HDAC4 C>T	2	240033391	240033391	C	T	HDAC4	c.1794G>A	NM_006037.4	NP_006028.2:p.(Glu598=)	NC_000002.11:g.240033391C>T	(Likely) benign	3 labs	74760c0ed1
13:103524762 ERCC5 C>T	13	103524762	103524762	C	T	ERCC5	c.2879+14C>T	NM_000123.4	NP_000114.3:p.?	NC_000013.10:g.103524762C>T	(Likely) benign	2 labs	747b0c2bb7
14:23858275 MYH6 G>T	14	23858275	23858275	G	T	MYH6	c.3979-11C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858275G>T	(Likely) benign	2 labs	747c08e9dc
5:38528951 LIFR G>GAC	5	38528951	38528980	G	GAC	LIFR	c.143-11_143-10dup	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38528979_38528980dup	(Likely) benign	3 labs	748548de70
7:21778449 DNAH11 C>T	7	21778449	21778449	C	T	DNAH11	c.7776C>T	NM_001277115.2	NP_001264044.1:p.(His2592=)	NC_000007.13:g.21778449C>T	(Likely) benign	2 labs	74945f47bc
5:176721151 NSD1 T>C	5	176721151	176721151	T	C	NSD1	c.6782T>C	NM_022455.4	NP_071900.2:p.(Met2261Thr)	NC_000005.9:g.176721151T>C	(Likely) benign	3 labs	748d634802
10:70748784 KIFBP G>A	10	70748784	70748784	G	A	KIFBP	c.196G>A	NM_015634.4	NP_056449.1:p.(Gly66Ser)	NC_000010.10:g.70748784G>A	(Likely) benign	2 labs	749a50ec5c
6:129794473 LAMA2 G>T	6	129794473	129794473	G	T	LAMA2	c.7415G>T	NM_000426.3	NP_000417.2:p.(Gly2472Val)	NC_000006.11:g.129794473G>T	VUS	2 labs	749b75fada
18:48591883 SMAD4 C>T	18	48591883	48591883	C	T	SMAD4	c.1046C>T	NM_005359.6	NP_005350.1:p.(Thr349Ile)	NC_000018.9:g.48591883C>T	VUS	4 labs	74ad75364c
8:100454804 VPS13B A>G	8	100454804	100454804	A	G	VPS13B	c.3386A>G	NM_017890.5	NP_060360.3:p.(Lys1129Arg)	NC_000008.10:g.100454804A>G	(Likely) benign	4 labs	74a50d544a
16:90001525 TUBB3 C>T	16	90001525	90001525	C	T	TUBB3	c.450C>T	NM_001197181.2	NP_001184110.1:p.(Tyr150=)	NC_000016.9:g.90001525C>T	(Likely) benign	2 labs	74a6948a22
8:27398092 EPHX2 C>T	8	27398092	27398092	C	T	EPHX2	c.1298C>T	NM_001979.6	NP_001970.2:p.(Pro433Leu)	NC_000008.10:g.27398092C>T	VUS	2 labs	74c14d9a8a
1:234744345 IRF2BP2 A>G	1	234744345	234744345	A	G	IRF2BP2	c.896T>C	NM_182972.2	NP_892017.2:p.(Val299Ala)	NC_000001.10:g.234744345A>G	(Likely) benign	2 labs	74daa57b14
5:13788886 DNAH5 C>A	5	13788886	13788886	C	A	DNAH5	c.8586G>T	NM_001369.3	NP_001360.1:p.(Leu2862Phe)	NC_000005.9:g.13788886C>A	(Likely) benign	2 labs	74e17e1645
19:50813042 MYH14 CAGTGA>C	19	50813042	50813047	CAGTGA	C	MYH14	c.6107_6111del	NM_001145809.2	NP_001139281.1:p.(Gln2036ProfsTer9)	NC_000019.9:g.50813043_50813047del	(Likely) benign	2 labs	74df204c62
7:128486805 FLNC G>A	7	128486805	128486805	G	A	FLNC	c.4134G>A	NM_001458.4	NP_001449.3:p.(Ala1378=)	NC_000007.13:g.128486805G>A	(Likely) benign	2 labs	74ef045be8
X:8503641 ANOS1 G>A	X	8503641	8503641	G	A	ANOS1	c.1833C>T	NM_000216.4	NP_000207.2:p.(Ile611=)	NC_000023.10:g.8503641G>A	(Likely) benign	3 labs	f7e2fb6037
3:10188323 VHL A>G	3	10188323	10188323	A	G	VHL	c.463+3A>G	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10188323A>G	(Likely) pathogenic	2 labs	75048ec735
20:39766322 PLCG1 C>T	20	39766322	39766322	C	T	PLCG1	c.41C>T	NM_002660.2	NP_002651.2:p.(Pro14Leu)	NC_000020.10:g.39766322C>T	(Likely) benign	2 labs	7504f01a6f
7:99703901 AP4M1 C>T	7	99703901	99703901	C	T	AP4M1	c.1012C>T	NM_004722.3	NP_004713.2:p.(Arg338Ter)	NC_000007.13:g.99703901C>T	(Likely) pathogenic	3 labs	75066e2c9a
17:29315109 RNF135 G>A	17	29315109	29315109	G	A	RNF135	c.664G>A	NM_001184992.1	NP_001171921.1:p.(Glu222Lys)	NC_000017.10:g.29315109G>A	(Likely) benign	2 labs	750904a515
16:2103372 TSC2 C>T	16	2103372	2103372	C	T	TSC2	c.255C>T	NM_001114382.2	NP_001107854.1:p.(Val85=)	NC_000016.9:g.2103372C>T	(Likely) benign	2 labs	750acb423c
4:84205781 COQ2 G>A	4	84205781	84205781	G	A	COQ2	c.287C>T	NM_015697.8	NP_056512.5:p.(Pro96Leu)	NC_000004.11:g.84205781G>A	(Likely) benign	2 labs	750d63688d
16:28497916 CLN3 G>A	16	28497916	28497916	G	A	CLN3	c.516C>T	NM_001042432.1	NP_001035897.1:p.(Leu172=)	NC_000016.9:g.28497916G>A	(Likely) benign	2 labs	7516dbd3cd
16:143224 NPRL3 C>A	16	143224	143224	C	A	NPRL3	c.949G>T	NM_001243249.1	NP_001230178.1:p.(Val317Leu)	NC_000016.9:g.143224C>A	(Likely) benign	2 labs	7519cba54e
14:105409099 AHNAK2 G>T	14	105409099	105409099	G	T	AHNAK2	c.12689C>A	NM_138420.3	NP_612429.2:p.(Ala4230Asp)	NC_000014.8:g.105409099G>T	(Likely) benign	2 labs	751d5e9f75
3:142231224 ATR C>A	3	142231224	142231224	C	A	ATR	c.4730G>T	NM_001184.4	NP_001175.2:p.(Ser1577Ile)	NC_000003.11:g.142231224C>A	VUS	3 labs	752f1e6ea2
2:74597937 DCTN1 G>T	2	74597937	74597937	G	T	DCTN1	c.859C>A	NM_004082.5	NP_004073.2:p.(Leu287Met)	NC_000002.11:g.74597937G>T	(Likely) benign	2 labs	752f2e07ec
12:33021983 PKP2 C>T	12	33021983	33021983	C	T	PKP2	c.1048G>A	NM_004572.4	NP_004563.2:p.(Glu350Lys)	NC_000012.11:g.33021983C>T	VUS	2 labs	f7e598d54f
19:33355112 SLC7A9 G>A	19	33355112	33355112	G	A	SLC7A9	c.368C>T	NM_001243036.1	NP_001229965.1:p.(Thr123Met)	NC_000019.9:g.33355112G>A	VUS	3 labs	7538dff169
1:12020834 PLOD1 G>A	1	12020834	12020834	G	A	PLOD1	c.1097+10G>A	NM_000302.3	NP_000293.2:p.?	NC_000001.10:g.12020834G>A	(Likely) benign	2 labs	753d84192b
4:79371331 FRAS1 C>T	4	79371331	79371331	C	T	FRAS1	c.6301C>T	NM_025074.7	NP_079350.5:p.(His2101Tyr)	NC_000004.11:g.79371331C>T	(Likely) benign	2 labs	75415040e9
1:5927920 NPHP4 C>T	1	5927920	5927920	C	T	NPHP4	c.3352G>A	NM_015102.4	NP_055917.1:p.(Val1118Met)	NC_000001.10:g.5927920C>T	VUS	2 labs	75437a2dc3
11:22281202 ANO5 A>G	11	22281202	22281202	A	G	ANO5	c.1545A>G	NM_213599.3	NP_998764.1:p.(Ser515=)	NC_000011.9:g.22281202A>G	(Likely) benign	3 labs	7566032bd9
12:49445392 KMT2D G>T	12	49445392	49445392	G	T	KMT2D	c.2074C>A	NM_003482.3	NP_003473.3:p.(Pro692Thr)	NC_000012.11:g.49445392G>T	(Likely) benign	3 labs	7574e23686
2:241810850 AGXT G>A	2	241810850	241810850	G	A	AGXT	c.508G>A	NM_000030.3	NP_000021.1:p.(Gly170Arg)	NC_000002.11:g.241810850G>A	(Likely) pathogenic	3 labs	f7ef6f6732
2:220079212 ABCB6 T>C	2	220079212	220079212	T	C	ABCB6	c.1285A>G	NM_005689.2	NP_005680.1:p.(Ile429Val)	NC_000002.11:g.220079212T>C	(Likely) benign	2 labs	7582e28e0e
1:68914353 RPE65 A>G	1	68914353	68914353	A	G	RPE65	c.48T>C	NM_000329.3	NP_000320.1:p.(Phe16=)	NC_000001.10:g.68914353A>G	(Likely) benign	2 labs	7587f24b44
18:21119777 NPC1 G>A	18	21119777	21119777	G	A	NPC1	c.2793C>T	NM_000271.5	NP_000262.2:p.(Asn931=)	NC_000018.9:g.21119777G>A	(Likely) benign	4 labs	f7fb6817eb
14:75378050 RPS6KL1 G>A	14	75378050	75378050	G	A	RPS6KL1	c.565C>T	NM_031464.4	NP_113652.2:p.(Arg189Trp)	NC_000014.8:g.75378050G>A	VUS	2 labs	7593cbdd7f
18:29126670 DSG2 T>C	18	29126670	29126670	T	C	DSG2	c.3321T>C	NM_001943.5	NP_001934.2:p.(Val1107=)	NC_000018.9:g.29126670T>C	(Likely) benign	5 labs	f7fe84e8b5
6:31915199 CFB G>A	6	31915199	31915199	G	A	CFB	c.559G>A	NM_001710.6	NP_001701.2:p.(Val187Ile)	NC_000006.11:g.31915199G>A	VUS	2 labs	f803e55ee7
11:2906165 CDKN1C A>G	11	2906165	2906165	A	G	CDKN1C	c.555T>C	NM_000076.2	NP_000067.1:p.(Ala185=)	NC_000011.9:g.2906165A>G	(Likely) benign	3 labs	f809bb3b09
14:23858271 MYH6 AGG>GC	14	23858271	23858273	AGG	GC	MYH6	c.3979-9_3979-7delinsGC	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858271_23858273delinsGC	(Likely) benign	2 labs	7599777b97
19:7600836 PNPLA6 C>T	19	7600836	7600836	C	T	PNPLA6	c.189C>T	NM_001166111.2	NP_001159583.1:p.(Ile63=)	NC_000019.9:g.7600836C>T	(Likely) benign	3 labs	759477ef21
7:117171028 CFTR C>T	7	117171028	117171028	C	T	CFTR	c.349C>T	NM_000492.4	NP_000483.3:p.(Arg117Cys)	NC_000007.13:g.117171028C>T	(Likely) pathogenic	3 labs	759fa49345
1:36941231 CSF3R G>A	1	36941231	36941231	G	A	CSF3R	c.108C>T	NM_156039.3	NP_724781.1:p.(Val36=)	NC_000001.10:g.36941231G>A	(Likely) benign	2 labs	759f013751
3:49759378 GMPPB A>C	3	49759378	49759378	A	C	GMPPB	c.971T>G	NM_013334.3	NP_037466.2:p.(Leu324Arg)	NC_000003.11:g.49759378A>C	(Likely) benign	2 labs	75a9698c90
X:154227880 F8 G>A	X	154227880	154227880	G	A	F8	c.144-5C>T	NM_000132.4	NP_000123.1:p.?	NC_000023.10:g.154227880G>A	(Likely) benign	2 labs	75b6b203f1
16:57693319 ADGRG1 G>A	16	57693319	57693319	G	A	ADGRG1	c.1299G>A	NM_005682.6	NP_005673.3:p.(Pro433=)	NC_000016.9:g.57693319G>A	(Likely) benign	2 labs	75b33e519a
5:52403014 MOCS2 G>A	5	52403014	52403014	G	A	MOCS2	c.178C>T	NM_176806.4	NP_789776.1:p.(Arg60Cys)	NC_000005.9:g.52403014G>A	VUS	2 labs	75bde3657b
15:25584332 UBE3A CTCTT>C	15	25584332	25584337	CTCTT	C	UBE3A	c.2507_2510del	NM_001354543.2	NP_001341472.1:p.(Lys836ArgfsTer4)	NC_000015.9:g.25584334_25584337del	(Likely) pathogenic	3 labs	f81324092f
22:41545994 EP300 C>T	22	41545994	41545994	C	T	EP300	c.2609C>T	NM_001429.3	NP_001420.2:p.(Pro870Leu)	NC_000022.10:g.41545994C>T	(Likely) benign	2 labs	75e39e7be4
8:38947642 ADAM9 T>A	8	38947642	38947642	T	A	ADAM9	c.2145T>A	NM_003816.3	NP_003807.1:p.(Phe715Leu)	NC_000008.10:g.38947642T>A	VUS	2 labs	75e686f18d
12:21008080 SLCO1B3 T>TAATTG	12	21008080	21008086	T	TAATTG	SLCO1B3	c.205_209dup	NM_019844.4	NP_062818.1:p.(Asp70GlufsTer13)	NC_000012.11:g.21008082_21008086dup	VUS	2 labs	75fd3cfc0a
19:54392959 PRKCG G>A	19	54392959	54392959	G	A	PRKCG	c.353G>A	NM_002739.3	NP_002730.1:p.(Gly118Asp)	NC_000019.9:g.54392959G>A	(Likely) pathogenic	2 labs	760280e9e3
22:19751670 TBX1 C>T	22	19751670	19751670	C	T	TBX1	c.513-8C>T	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19751670C>T	(Likely) benign	3 labs	7602efcbf3
6:152697706 SYNE1 C>T	6	152697706	152697706	C	T	SYNE1	c.9147-13G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152697706C>T	(Likely) benign	4 labs	7607139c9a
2:21260009 APOB C>A	2	21260009	21260009	C	A	APOB	c.656G>T	NM_000384.3	NP_000375.3:p.(Arg219Leu)	NC_000002.11:g.21260009C>A	(Likely) benign	2 labs	f817bf33b9
2:27672588 IFT172 G>A	2	27672588	27672588	G	A	IFT172	c.4130C>T	NM_015662.2	NP_056477.1:p.(Ala1377Val)	NC_000002.11:g.27672588G>A	VUS	2 labs	7605a6b64e
14:20920212 OSGEP A>G	14	20920212	20920212	A	G	OSGEP	c.332T>C	NM_017807.4	NP_060277.1:p.(Ile111Thr)	NC_000014.8:g.20920212A>G	(Likely) pathogenic	3 labs	f81b85ad21
X:32328248 DMD A>C	X	32328248	32328248	A	C	DMD	c.6068T>G	NM_004006.3	NP_003997.2:p.(Leu2023Arg)	NC_000023.10:g.32328248A>C	VUS	4 labs	f81cf2fb25
18:43490557 EPG5 T>C	18	43490557	43490557	T	C	EPG5	c.4134A>G	NM_020964.3	NP_066015.2:p.(Glu1378=)	NC_000018.9:g.43490557T>C	(Likely) benign	2 labs	761f03e86e
9:32987707 APTX G>A	9	32987707	32987707	G	A	APTX	c.318C>T	NM_001195249.2	NP_001182178.1:p.(Asn106=)	NC_000009.11:g.32987707G>A	(Likely) benign	2 labs	76239735ac
1:20966418 PINK1 A>G	1	20966418	20966418	A	G	PINK1	c.709A>G	NM_032409.3	NP_115785.1:p.(Met237Val)	NC_000001.10:g.20966418A>G	VUS	2 labs	76249b9d3c
4:151850226 LRBA G>GA	4	151850226	151850238	G	GA	LRBA	c.217-10dup	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151850238dup	(Likely) benign	2 labs	762a78bce7
5:122722370 CEP120 TA>T	5	122722370	122722392	TA	T	CEP120	c.1431-10del	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122722392del	(Likely) benign	2 labs	762c5d2b8f
X:133607495 HPRT1 GGTAA>G	X	133607495	133607504	GGTAA	G	HPRT1	c.134+6_134+9del	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133607501_133607504del	(Likely) benign	2 labs	7633975ad4
13:20763685 GJB2 AC>A	13	20763685	20763691	AC	A	GJB2	c.35del	NM_004004.6	NP_003995.2:p.(Gly12ValfsTer2)	NC_000013.10:g.20763691del	(Likely) pathogenic	3 labs	76394be86d
17:41243801 BRCA1 G>A	17	41243801	41243801	G	A	BRCA1	c.3747C>T	NM_007294.4	NP_009225.1:p.(Thr1249=)	NC_000017.10:g.41243801G>A	(Likely) benign	4 labs	76369e4322
1:1463084 ATAD3A G>A	1	1463084	1463084	G	A	ATAD3A	c.1491G>A	NM_018188.4	NP_060658.3:p.(Leu497=)	NC_000001.10:g.1463084G>A	(Likely) benign	2 labs	7642131c9d
20:5283237 PROKR2 T>C	20	5283237	5283237	T	C	PROKR2	c.604A>G	NM_144773.4	NP_658986.1:p.(Ser202Gly)	NC_000020.10:g.5283237T>C	(Likely) benign	3 labs	764e239c9c
11:94219176 MRE11 G>A	11	94219176	94219176	G	A	MRE11	c.228C>T	NM_001330347.1	NP_001317276.1:p.(Leu76=)	NC_000011.9:g.94219176G>A	(Likely) benign	2 labs	764ca983a6
7:47880144 PKD1L1 C>T	7	47880144	47880144	C	T	PKD1L1	c.5467G>A	NM_138295.5	NP_612152.1:p.(Asp1823Asn)	NC_000007.13:g.47880144C>T	(Likely) benign	4 labs	f8228d38e0
2:179407285 TTN G>T	2	179407285	179407285	G	T	TTN	c.97198C>A	NM_001267550.2	NP_001254479.2:p.(Pro32400Thr)	NC_000002.11:g.179407285G>T	VUS	4 labs	7650b47e40
8:118830697 EXT1 C>T	8	118830697	118830697	C	T	EXT1	c.1609G>A	NM_000127.3	NP_000118.2:p.(Val537Ile)	NC_000008.10:g.118830697C>T	(Likely) benign	2 labs	f82444f8f6
18:44063569 LOXHD1 C>T	18	44063569	44063569	C	T	LOXHD1	c.6136G>A	NM_144612.6	NP_653213.6:p.(Glu2046Lys)	NC_000018.9:g.44063569C>T	VUS	2 labs	765261cdf0
12:6687020 CHD4 A>G	12	6687020	6687020	A	G	CHD4	c.5292T>C	NM_001273.4	NP_001264.2:p.(Pro1764=)	NC_000012.11:g.6687020A>G	(Likely) benign	2 labs	765d40c073
17:7606723 WRAP53 G>A	17	7606723	7606723	G	A	WRAP53	c.1566G>A	NM_018081.2	NP_060551.2:p.(Ala522=)	NC_000017.10:g.7606723G>A	(Likely) benign	3 labs	7669705b91
13:32912457 BRCA2 A>C	13	32912457	32912457	A	C	BRCA2	c.3965A>C	NM_000059.4	NP_000050.3:p.(Asn1322Thr)	NC_000013.10:g.32912457A>C	(Likely) benign	3 labs	765dbc0bd6
9:35095169 PIGO T>C	9	35095169	35095169	T	C	PIGO	c.394A>G	NM_032634.4	NP_116023.2:p.(Met132Val)	NC_000009.11:g.35095169T>C	VUS	3 labs	766e2b5a9e
11:71146577 DHCR7 G>A	11	71146577	71146577	G	A	DHCR7	c.1272C>T	NM_001360.3	NP_001351.2:p.(Gly424=)	NC_000011.9:g.71146577G>A	(Likely) benign	2 labs	f8305eecbd
X:153459046 OPN1MW C>G	X	153459046	153459046	C	G	OPN1MW	c.892C>G	NM_000513.2	NP_000504.1:p.(Pro298Ala)	NC_000023.10:g.153459046C>G	(Likely) benign	2 labs	7670530b92
1:172628518 FASLG G>A	1	172628518	172628518	G	A	FASLG	c.177G>A	NM_000639.1	NP_000630.1:p.(Pro59=)	NC_000001.10:g.172628518G>A	(Likely) benign	2 labs	767a8b38ec
19:17875266 FCHO1 G>T	19	17875266	17875266	G	T	FCHO1	c.194+8G>T	NM_001161357.1	NP_001154829.1:p.?	NC_000019.9:g.17875266G>T	(Likely) benign	2 labs	767ae01798
1:205180604 DSTYK G>C	1	205180604	205180604	G	C	DSTYK	c.60C>G	NM_015375.2	NP_056190.1:p.(Gly20=)	NC_000001.10:g.205180604G>C	(Likely) benign	2 labs	76808ff341
6:135763866 AHI1 G>A	6	135763866	135763866	G	A	AHI1	c.1780-14C>T	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135763866G>A	(Likely) benign	3 labs	7690d60b63
8:145006681 PLEC C>A	8	145006681	145006681	C	A	PLEC	c.2275G>T	NM_201380.3	NP_958782.1:p.(Val759Leu)	NC_000008.10:g.145006681C>A	VUS	2 labs	76908846d9
X:50659009 BMP15 T>C	X	50659009	50659009	T	C	BMP15	c.581T>C	NM_005448.2	NP_005439.2:p.(Phe194Ser)	NC_000023.10:g.50659009T>C	(Likely) benign	3 labs	7695df089b
8:10464616 RP1L1 G>A	8	10464616	10464616	G	A	RP1L1	c.6992C>T	NM_178857.6	NP_849188.4:p.(Thr2331Met)	NC_000008.10:g.10464616G>A	(Likely) benign	2 labs	768df4f226
8:61714075 CHD7 C>CT	8	61714075	61714084	C	CT	CHD7	c.2377-3dup	NM_017780.2	NP_060250.2:p.?	NC_000008.10:g.61714084dup	(Likely) benign	2 labs	769abddcdf
15:90176131 KIF7 G>A	15	90176131	90176131	G	A	KIF7	c.2815C>T	NM_198525.2	NP_940927.2:p.(Arg939Trp)	NC_000015.9:g.90176131G>A	VUS	2 labs	76a7df4384
8:61764669 CHD7 C>G	8	61764669	61764669	C	G	CHD7	c.5757C>G	NM_017780.4	NP_060250.2:p.(Ala1919=)	NC_000008.10:g.61764669C>G	(Likely) benign	2 labs	76aba3dbaa
X:134707883 INTS6L A>G	X	134707883	134707883	A	G	INTS6L	c.1526A>G	NM_182540.5	NP_872346.3:p.(Tyr509Cys)	NC_000023.10:g.134707883A>G	(Likely) benign	2 labs	76b47c3678
18:31325803 ASXL3 A>G	18	31325803	31325803	A	G	ASXL3	c.5991A>G	NM_030632.2	NP_085135.1:p.(Lys1997=)	NC_000018.9:g.31325803A>G	(Likely) benign	2 labs	76b7853203
15:25601208 UBE3A CAACCAGA>C	15	25601208	25601217	CAACCAGA	C	UBE3A	c.1960-12_1960-6del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25601211_25601217del	(Likely) pathogenic	2 labs	76bfa7e12b
16:3304762 MEFV A>G	16	3304762	3304762	A	G	MEFV	c.306T>C	NM_000243.3	NP_000234.1:p.(Asp102=)	NC_000016.9:g.3304762A>G	(Likely) benign	2 labs	f83f606ce5
11:46726747 ZNF408 G>A	11	46726747	46726747	G	A	ZNF408	c.1497G>A	NM_024741.3	NP_079017.1:p.(Pro499=)	NC_000011.9:g.46726747G>A	(Likely) benign	2 labs	76c48eb3b1
13:103275298 TPP2 A>G	13	103275298	103275298	A	G	TPP2	c.692A>G	NM_003291.4	NP_003282.2:p.(Gln231Arg)	NC_000013.10:g.103275298A>G	VUS	2 labs	76ce9893a5
13:111160403 COL4A2 G>A	13	111160403	111160403	G	A	COL4A2	c.4716G>A	NM_001846.3	NP_001837.2:p.(Pro1572=)	NC_000013.10:g.111160403G>A	(Likely) benign	2 labs	76d7de3c1a
3:58124218 FLNB G>A	3	58124218	58124218	G	A	FLNB	c.5164G>A	NM_001164317.1	NP_001157789.1:p.(Gly1722Ser)	NC_000003.11:g.58124218G>A	(Likely) pathogenic	2 labs	76d7ee1a87
6:152683397 SYNE1 C>T	6	152683397	152683397	C	T	SYNE1	c.10207G>A	NM_182961.3	NP_892006.3:p.(Gly3403Ser)	NC_000006.11:g.152683397C>T	(Likely) benign	2 labs	76dd986186
1:94496602 ABCA4 G>T	1	94496602	94496602	G	T	ABCA4	c.4203C>A	NM_000350.2	NP_000341.2:p.(Pro1401=)	NC_000001.10:g.94496602G>T	(Likely) benign	2 labs	76e04eaa01
20:57485878 GNAS G>T	20	57485878	57485878	G	T	GNAS	c.3108G>T	NM_080425.4	NP_536350.2:p.(Leu1036=)	NC_000020.10:g.57485878G>T	(Likely) benign	2 labs	76def96977
5:140955777 DIAPH1 C>T	5	140955777	140955777	C	T	DIAPH1	c.1461+20G>A	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140955777C>T	(Likely) benign	3 labs	f84a3cd9fc
16:70303579 AARS1 C>T	16	70303579	70303579	C	T	AARS1	c.904G>A	NM_001605.2	NP_001596.2:p.(Ala302Thr)	NC_000016.9:g.70303579C>T	(Likely) benign	2 labs	76eb90d19a
1:39852990 MACF1 T>C	1	39852990	39852990	T	C	MACF1	c.8290T>C	NM_012090.5	NP_036222.3:p.(Leu2764=)	NC_000001.10:g.39852990T>C	(Likely) benign	2 labs	76eb12e3c7
5:149436930 CSF1R C>T	5	149436930	149436930	C	T	CSF1R	c.2239G>A	NM_001375320.1	NP_001362249.1:p.(Gly747Arg)	NC_000005.9:g.149436930C>T	(Likely) benign	3 labs	76ec8a2701
3:69988319 MITF C>T	3	69988319	69988319	C	T	MITF	c.332C>T	NM_000248.4	NP_000239.1:p.(Ala111Val)	NC_000003.11:g.69988319C>T	VUS	3 labs	77033fad17
10:56424016 PCDH15 G>A	10	56424016	56424016	G	A	PCDH15	c.7C>T	NM_001354429.1	NP_001341358.1:p.(Arg3Ter)	NC_000010.10:g.56424016G>A	(Likely) pathogenic	2 labs	77060188c3
16:88501728 ZNF469 G>A	16	88501728	88501728	G	A	ZNF469	c.7850G>A	NM_001367624.2	NP_001354553.1:p.(Arg2617Gln)	NC_000016.9:g.88501728G>A	(Likely) benign	2 labs	76fcbd57df
9:32973554 APTX T>A	9	32973554	32973554	T	A	APTX	c.971A>T	NM_001195249.2	NP_001182178.1:p.(Gln324Leu)	NC_000009.11:g.32973554T>A	(Likely) benign	3 labs	770b0502fa
3:123426842 MYLK C>A	3	123426842	123426842	C	A	MYLK	c.2149G>T	NM_053025.4	NP_444253.3:p.(Asp717Tyr)	NC_000003.11:g.123426842C>A	VUS	2 labs	f854c73c7d
17:76993443 CANT1 T>C	17	76993443	76993443	T	C	CANT1	c.262A>G	NM_138793.3	NP_620148.1:p.(Asn88Asp)	NC_000017.10:g.76993443T>C	VUS	2 labs	771e087314
16:70292968 AARS1 A>C	16	70292968	70292968	A	C	AARS1	c.1907T>G	NM_001605.3	NP_001596.2:p.(Phe636Cys)	NC_000016.9:g.70292968A>C	VUS	2 labs	f855bf38ff
2:169826641 ABCB11 G>A	2	169826641	169826641	G	A	ABCB11	c.1723C>T	NM_003742.4	NP_003733.2:p.(Arg575Ter)	NC_000002.11:g.169826641G>A	(Likely) pathogenic	4 labs	772cb11c04
6:117245823 RFX6 A>T	6	117245823	117245823	A	T	RFX6	c.1556-9A>T	NM_173560.3	NP_775831.2:p.?	NC_000006.11:g.117245823A>T	(Likely) benign	2 labs	772de146af
13:23907710 SACS A>G	13	23907710	23907710	A	G	SACS	c.10305T>C	NM_014363.5	NP_055178.3:p.(Ser3435=)	NC_000013.10:g.23907710A>G	(Likely) benign	2 labs	772f0d63a8
14:89307484 TTC8 G>A	14	89307484	89307484	G	A	TTC8				NC_000014.8:g.89307484G>A	VUS	2 labs	77345acdcd
11:12904648 TEAD1 C>T	11	12904648	12904648	C	T	TEAD1	c.675C>T	NM_021961.6	NP_068780.2:p.(Leu225=)	NC_000011.9:g.12904648C>T	(Likely) benign	2 labs	7734bffa5c
5:1216931 SLC6A19 C>T	5	1216931	1216931	C	T	SLC6A19	c.1044C>T	NM_001003841.2	NP_001003841.1:p.(Phe348=)	NC_000005.9:g.1216931C>T	(Likely) benign	2 labs	77352543a8
X:5811532 NLGN4X G>A	X	5811532	5811532	G	A	NLGN4X	c.1777C>T	NM_020742.4	NP_065793.1:p.(Leu593Phe)	NC_000023.10:g.5811532G>A	(Likely) benign	3 labs	77399cdf61
4:158057857 GLRB T>C	4	158057857	158057857	T	C	GLRB	c.527+7T>C	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.158057857T>C	(Likely) benign	2 labs	773aa62cc0
22:18561174 PEX26 C>T	22	18561174	18561174	C	T	PEX26	c.32C>T	NM_001127649.2	NP_001121121.1:p.(Pro11Leu)	NC_000022.10:g.18561174C>T	VUS	2 labs	7744fd0607
11:2189802 TH C>T	11	2189802	2189802	C	T	TH	c.499G>A	NM_199292.3	NP_954986.2:p.(Val167Met)	NC_000011.9:g.2189802C>T	VUS	2 labs	9c9b2c77a2
21:47776923 PCNT C>G	21	47776923	47776923	C	G	PCNT	c.1971C>G	NM_006031.5	NP_006022.3:p.(Asp657Glu)	NC_000021.8:g.47776923C>G	(Likely) benign	2 labs	774b513607
2:179438919 TTN C>T	2	179438919	179438919	C	T	TTN	c.71940G>A	NM_001267550.2	NP_001254479.2:p.(Leu23980=)	NC_000002.11:g.179438919C>T	(Likely) benign	5 labs	7751002f8e
19:11226873 LDLR A>G	19	11226873	11226873	A	G	LDLR	c.1690A>G	NM_000527.5	NP_000518.1:p.(Asn564Asp)	NC_000019.9:g.11226873A>G	(Likely) pathogenic	2 labs	f856848288
16:2143547 PKD1 G>A	16	2143547	2143547	G	A	PKD1	c.11014C>T	NM_001009944.2	NP_001009944.2:p.(Arg3672Trp)	NC_000016.9:g.2143547G>A	VUS	2 labs	77631e6f16
3:57131722 IL17RD G>A	3	57131722	57131722	G	A	IL17RD	c.1577C>T	NM_001318864.1	NP_001305793.1:p.(Pro526Leu)	NC_000003.11:g.57131722G>A	VUS	2 labs	776a7ba5bc
11:47356593 MYBPC3 G>A	11	47356593	47356593	G	A	MYBPC3	c.2905C>T	NM_000256.3	NP_000247.2:p.(Gln969Ter)	NC_000011.9:g.47356593G>A	(Likely) pathogenic	4 labs	7771b02c47
6:53372323 GCLC C>T	6	53372323	53372323	C	T	GCLC	c.1039G>A	NM_001498.4	NP_001489.1:p.(Asp347Asn)	NC_000006.11:g.53372323C>T	(Likely) benign	2 labs	777005219d
16:2036002 GFER C>G	16	2036002	2036002	C	G	GFER	c.591C>G	NM_005262.2	NP_005253.3:p.(Asp197Glu)	NC_000016.9:g.2036002C>G	VUS	2 labs	77734d0c60
6:80626572 ELOVL4 G>A	6	80626572	80626572	G	A	ELOVL4	c.698C>T	NM_022726.3	NP_073563.1:p.(Thr233Met)	NC_000006.11:g.80626572G>A	(Likely) pathogenic	2 labs	777fcda2c3
X:110987953 ALG13 TACC>T	X	110987953	110987998	TACC	T	ALG13	c.2796_2798del	NM_001099922.3	NP_001093392.1:p.(Pro945del)	NC_000023.10:g.110987996_110987998del	(Likely) benign	3 labs	7786825ed8
7:150642590 KCNH2 T>C	7	150642590	150642590	T	C	KCNH2	c.3343A>G	NM_000238.4	NP_000229.1:p.(Met1115Val)	NC_000007.13:g.150642590T>C	VUS	2 labs	f85bedcba5
X:54956296 TRO G>A	X	54956296	54956296	G	A	TRO	c.3139G>A	NM_001039705.2	NP_001034794.1:p.(Val1047Ile)	NC_000023.10:g.54956296G>A	(Likely) benign	2 labs	77963f5e21
16:15832441 MYH11 A>G	16	15832441	15832441	A	G	MYH11	c.3123T>C	NM_001040113.2	NP_001035202.1:p.(Ser1041=)	NC_000016.9:g.15832441A>G	(Likely) benign	3 labs	779dfa8602
2:63660917 WDPCP TGGCTCTGTCCTTCTCAGAAGAAATGGG>T	2	63660917	63660947	TGGCTCTGTCCTTCTCAGAAGAAATGGG	T	WDPCP	c.688_714del	NM_001354044.2	NP_001340973.1:p.(Pro230_Ala238del)	NC_000002.11:g.63660921_63660947del	VUS	5 labs	77a55a45d7
2:179629385 TTN T>C	2	179629385	179629385	T	C	TTN	c.9857A>G	NM_001267550.2	NP_001254479.2:p.(Lys3286Arg)	NC_000002.11:g.179629385T>C	VUS	2 labs	77a768ae24
10:43610119 RET G>A	10	43610119	43610119	G	A	RET	c.2071G>A	NM_020975.6	NP_066124.1:p.(Gly691Ser)	NC_000010.10:g.43610119G>A	(Likely) benign	3 labs	77aa1ababa
10:95093631 MYOF C>T	10	95093631	95093631	C	T	MYOF	c.4603G>A	NM_013451.4	NP_038479.1:p.(Val1535Met)	NC_000010.10:g.95093631C>T	(Likely) benign	2 labs	77b458ea87
1:78408360 NEXN GAGA>G	1	78408360	78408366	GAGA	G	NEXN	c.1878_1880del	NM_144573.4	NP_653174.3:p.(Glu626del)	NC_000001.10:g.78408364_78408366del	VUS	2 labs	77b55979e9
16:20352490 UMOD T>C	16	20352490	20352490	T	C	UMOD	c.1599A>G	NM_001278614.1	NP_001265543.1:p.(Ala533=)	NC_000016.9:g.20352490T>C	(Likely) benign	3 labs	77b84b8c2a
9:80851382 CEP78 G>C	9	80851382	80851382	G	C	CEP78	c.116G>C	NM_001349839.1	NP_001336768.1:p.(Arg39Pro)	NC_000009.11:g.80851382G>C	VUS	2 labs	77c3193ce8
17:29588727 NF1 A>G	17	29588727	29588727	A	G	NF1	c.4515-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29588727A>G	(Likely) pathogenic	2 labs	77c3cb2d68
11:66475136 SPTBN2 T>C	11	66475136	66475136	T	C	SPTBN2	c.1504A>G	NM_006946.3	NP_008877.1:p.(Ile502Val)	NC_000011.9:g.66475136T>C	(Likely) benign	2 labs	77caa79bb2
17:29496972 NF1 GTATATCA>G	17	29496972	29496979	GTATATCA	G	NF1	c.544_550del	NM_000267.3	NP_000258.1:p.(Tyr182MetfsTer7)	NC_000017.10:g.29496973_29496979del	(Likely) pathogenic	2 labs	77dafc3278
2:163134176 IFIH1 C>T	2	163134176	163134176	C	T	IFIH1	c.1793G>A	NM_022168.4	NP_071451.2:p.(Arg598His)	NC_000002.11:g.163134176C>T	VUS	2 labs	77e181c5ab
22:51065593 ARSA C>T	22	51065593	51065593	C	T	ARSA	c.465+1G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51065593C>T	(Likely) pathogenic	5 labs	77f3373d6b
6:13316910 TBC1D7 C>T	6	13316910	13316910	C	T	TBC1D7	c.412G>A	NM_016495.5	NP_057579.1:p.(Ala138Thr)	NC_000006.11:g.13316910C>T	VUS	2 labs	77f035d655
19:1469496 APC2 C>G	19	1469496	1469496	C	G	APC2	c.6196C>G	NM_005883.2	NP_005874.1:p.(Pro2066Ala)	NC_000019.9:g.1469496C>G	(Likely) benign	2 labs	77fd1e13bc
18:29115328 DSG2 A>G	18	29115328	29115328	A	G	DSG2	c.1376A>G	NM_001943.5	NP_001934.2:p.(Tyr459Cys)	NC_000018.9:g.29115328A>G	(Likely) benign	3 labs	77fd6e6c56
5:176830627 F12 G>C	5	176830627	176830627	G	C	F12	c.1251-9C>G	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176830627G>C	(Likely) benign	2 labs	7801519913
7:92734064 SAMD9 A>G	7	92734064	92734064	A	G	SAMD9	c.1347T>C	NM_017654.3	NP_060124.2:p.(Asn449=)	NC_000007.13:g.92734064A>G	(Likely) benign	2 labs	780845f066
8:144998035 PLEC G>A	8	144998035	144998035	G	A	PLEC	c.6143C>T	NM_000445.5	NP_000436.2:p.(Ala2048Val)	NC_000008.10:g.144998035G>A	VUS	3 labs	78119bbf33
12:22070033 ABCC9 C>A	12	22070033	22070033	C	A	ABCC9	c.411G>T	NM_020297.4	NP_064693.2:p.(Leu137=)	NC_000012.11:g.22070033C>A	(Likely) benign	2 labs	7815282961
10:17113827 CUBN G>A	10	17113827	17113827	G	A	CUBN	c.2445C>T	NM_001081.3	NP_001072.2:p.(Val815=)	NC_000010.10:g.17113827G>A	(Likely) benign	2 labs	7814cc130c
8:144998653 PLEC C>T	8	144998653	144998653	C	T	PLEC	c.5855G>A	NM_201380.3	NP_958782.1:p.(Arg1952Gln)	NC_000008.10:g.144998653C>T	VUS	2 labs	7818818975
18:21124916 NPC1 C>CCCCG	18	21124916	21124917	C	CCCCG	NPC1	c.1947+7_1947+8insCGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916_21124917insCCCG	(Likely) benign	3 labs	7817ff4da4
4:186435443 PDLIM3 C>T	4	186435443	186435443	C	T	PDLIM3	c.379G>A	NM_014476.5	NP_055291.2:p.(Val127Met)	NC_000004.11:g.186435443C>T	(Likely) benign	2 labs	781954c0e6
11:108151824 ATM G>A	11	108151824	108151824	G	A	ATM	c.3505G>A	NM_000051.4	NP_000042.3:p.(Glu1169Lys)	NC_000011.9:g.108151824G>A	VUS	2 labs	f871e49884
1:114402023 PTPN22 A>G	1	114402023	114402023	A	G	PTPN22	c.147T>C	NM_015967.6	NP_057051.3:p.(Ala49=)	NC_000001.10:g.114402023A>G	(Likely) benign	2 labs	7824cf0e9c
3:123348313 MYLK C>T	3	123348313	123348313	C	T	MYLK	c.5114+8G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123348313C>T	(Likely) benign	3 labs	7822530a89
7:73471717 ELN G>A	7	73471717	73471717	G	A	ELN	c.1363G>A	NM_001278939.1	NP_001265868.1:p.(Ala455Thr)	NC_000007.13:g.73471717G>A	(Likely) benign	3 labs	782ad80a7e
10:73573037 CDH23 C>T	10	73573037	73573037	C	T	CDH23	c.9670C>T	NM_022124.5	NP_071407.4:p.(Arg3224Trp)	NC_000010.10:g.73573037C>T	VUS	3 labs	7836a27dc4
1:186862161 PLA2G4A A>G	1	186862161	186862161	A	G	PLA2G4A	c.134A>G	NM_024420.2	NP_077734.1:p.(Tyr45Cys)	NC_000001.10:g.186862161A>G	VUS	2 labs	78396d6400
X:53423185 SMC1A G>A	X	53423185	53423185	G	A	SMC1A	c.2758C>T	NM_001281463.1	NP_001268392.1:p.(Leu920=)	NC_000023.10:g.53423185G>A	(Likely) benign	2 labs	783b1c2678
17:41243596 BRCA1 T>C	17	41243596	41243596	T	C	BRCA1	c.3952A>G	NM_007294.3	NP_009225.1:p.(Ile1318Val)	NC_000017.10:g.41243596T>C	(Likely) benign	3 labs	783cf9daed
1:24140831 HMGCL G>T	1	24140831	24140831	G	T	HMGCL	c.349-3C>A	NM_000191.2	NP_000182.2:p.?	NC_000001.10:g.24140831G>T	VUS	2 labs	784becd0c7
6:152558081 SYNE1 C>G	6	152558081	152558081	C	G	SYNE1	c.20070G>C	NM_182961.3	NP_892006.3:p.(Thr6690=)	NC_000006.11:g.152558081C>G	(Likely) benign	2 labs	7850af4c2b
15:43900358 STRC G>A	15	43900358	43900358	G	A	STRC	c.3601C>T	NM_153700.2	NP_714544.1:p.(Gln1201Ter)	NC_000015.9:g.43900358G>A	(Likely) pathogenic	2 labs	7864c7c36c
9:108536233 TMEM38B C>T	9	108536233	108536233	C	T	TMEM38B	c.748C>T	NM_018112.3	NP_060582.1:p.(Pro250Ser)	NC_000009.11:g.108536233C>T	(Likely) benign	3 labs	78665c2b80
11:47365199 MYBPC3 G>A	11	47365199	47365199	G	A	MYBPC3	c.1091-24C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365199G>A	(Likely) benign	2 labs	78697fd5d2
14:64469829 SYNE2 G>A	14	64469829	64469829	G	A	SYNE2	c.4178G>A	NM_182914.2	NP_878918.2:p.(Arg1393Gln)	NC_000014.8:g.64469829G>A	(Likely) benign	4 labs	78699d3786
5:90070096 ADGRV1 G>A	5	90070096	90070096	G	A	ADGRV1	c.12379G>A	NM_032119.4	NP_115495.3:p.(Glu4127Lys)	NC_000005.9:g.90070096G>A	VUS	2 labs	786dccde19
7:91855121 KRIT1 TC>T	7	91855121	91855123	TC	T	KRIT1	c.1166del	NM_194454.3	NP_919436.1:p.(Gly389GlufsTer5)	NC_000007.13:g.91855123del	(Likely) pathogenic	2 labs	786c28a48d
1:45799121 MUTYH G>A	1	45799121	45799121	G	A	MUTYH	c.312C>T	NM_001128425.2	NP_001121897.1:p.(Tyr104=)	NC_000001.10:g.45799121G>A	(Likely) benign	4 labs	7878a6a21e
2:179428249 TTN C>T	2	179428249	179428249	C	T	TTN	c.82610G>A	NM_001267550.2	NP_001254479.2:p.(Gly27537Asp)	NC_000002.11:g.179428249C>T	VUS	3 labs	78827d0f91
3:193384966 OPA1 A>G	3	193384966	193384966	A	G	OPA1	c.2880A>G	NM_130837.2	NP_570850.2:p.(Arg960=)	NC_000003.11:g.193384966A>G	(Likely) benign	2 labs	787e2090f1
7:92120599 PEX1 GTTCCAT>G	7	92120599	92120610	GTTCCAT	G	PEX1	c.3419_3424del	NM_000466.3	NP_000457.1:p.(Asn1140_Gly1141del)	NC_000007.13:g.92120605_92120610del	VUS	2 labs	7882cbfadb
X:23803820 SAT1 C>G	X	23803820	23803820	C	G	SAT1	c.363C>G	NM_002970.3	NP_002961.1:p.(Arg121=)	NC_000023.10:g.23803820C>G	(Likely) benign	2 labs	7884bce07e
13:32913903 BRCA2 T>C	13	32913903	32913903	T	C	BRCA2	c.5411T>C	NM_000059.3	NP_000050.2:p.(Val1804Ala)	NC_000013.10:g.32913903T>C	(Likely) benign	3 labs	7887bf0038
7:73450880 ELN C>A	7	73450880	73450880	C	A	ELN	c.134-5C>A	NM_000501.3	NP_000492.2:p.?	NC_000007.13:g.73450880C>A	(Likely) benign	2 labs	788fde9d8a
2:20173353 WDR35 T>A	2	20173353	20173353	T	A	WDR35	c.853A>T	NM_001006657.1	NP_001006658.1:p.(Ile285Phe)	NC_000002.11:g.20173353T>A	(Likely) benign	3 labs	78a00a191a
16:3639145 SLX4 C>T	16	3639145	3639145	C	T	SLX4	c.4494G>A	NM_032444.2	NP_115820.2:p.(Leu1498=)	NC_000016.9:g.3639145C>T	(Likely) benign	2 labs	78a28006c5
4:6302646 WFS1 G>A	4	6302646	6302646	G	A	WFS1	c.1124G>A	NM_006005.3	NP_005996.2:p.(Arg375His)	NC_000004.11:g.6302646G>A	VUS	4 labs	78a28da627
7:91726927 AKAP9 A>C	7	91726927	91726927	A	C	AKAP9	c.10426A>C	NM_005751.5	NP_005742.4:p.(Arg3476=)	NC_000007.13:g.91726927A>C	(Likely) benign	2 labs	f8993b513a
16:27751895 KATNIP C>T	16	27751895	27751895	C	T	KATNIP	c.2277C>T	NM_015202.3	NP_056017.3:p.(Pro759=)	NC_000016.9:g.27751895C>T	(Likely) benign	2 labs	78a770cbaa
1:21902400 ALPL G>A	1	21902400	21902400	G	A	ALPL	c.1172G>A	NM_000478.5	NP_000469.3:p.(Arg391His)	NC_000001.10:g.21902400G>A	(Likely) pathogenic	2 labs	78ae792d39
X:70357097 MED12 G>A	X	70357097	70357097	G	A	MED12	c.5612G>A	NM_005120.3	NP_005111.2:p.(Arg1871Gln)	NC_000023.10:g.70357097G>A	VUS	3 labs	78b2f7c32d
7:82389978 PCLO T>A	7	82389978	82389978	T	A	PCLO	c.15265A>T	NM_033026.6	NP_149015.2:p.(Ser5089Cys)	NC_000007.13:g.82389978T>A	VUS	2 labs	78c0f0a16a
1:156563851 NAXE C>T	1	156563851	156563851	C	T	NAXE	c.842C>T	NM_144772.2	NP_658985.2:p.(Thr281Ile)	NC_000001.10:g.156563851C>T	VUS	2 labs	78c72ca3e9
4:88534398 DSPP C>T	4	88534398	88534398	C	T	DSPP	c.1060C>T	NM_014208.3	NP_055023.2:p.(Arg354Cys)	NC_000004.11:g.88534398C>T	(Likely) benign	2 labs	78ca03afff
12:88500654 CEP290 G>A	12	88500654	88500654	G	A	CEP290	c.2615C>T	NM_025114.3	NP_079390.3:p.(Ser872Leu)	NC_000012.11:g.88500654G>A	VUS	2 labs	78d0abe8fe
16:15844174 MYH11 C>T	16	15844174	15844174	C	T	MYH11	c.1900G>A	NM_001040113.1	NP_001035202.1:p.(Gly634Ser)	NC_000016.9:g.15844174C>T	VUS	2 labs	78d285e5b3
15:48902951 FBN1 AT>A	15	48902951	48902952	AT	A	FBN1	c.319del	NM_000138.5	NP_000129.3:p.(Ile107Ter)	NC_000015.9:g.48902952del	(Likely) pathogenic	2 labs	f89ce5d5ff
16:16313792 ABCC6 C>T	16	16313792	16313792	C	T	ABCC6	c.232G>A	NM_001171.5	NP_001162.4:p.(Ala78Thr)	NC_000016.9:g.16313792C>T	(Likely) benign	2 labs	78e042f571
5:82789493 VCAN G>A	5	82789493	82789493	G	A	VCAN	c.574G>A	NM_004385.5	NP_004376.2:p.(Gly192Arg)	NC_000005.9:g.82789493G>A	(Likely) benign	3 labs	78f6f0392c
10:112541468 RBM20 G>T	10	112541468	112541468	G	T	RBM20	c.1101G>T	NM_001134363.3	NP_001127835.2:p.(Arg367=)	NC_000010.10:g.112541468G>T	(Likely) benign	2 labs	79050a9952
13:103518693 ERCC5 G>A	13	103518693	103518693	G	A	ERCC5	c.2281G>A	NM_000123.4	NP_000114.3:p.(Ala761Thr)	NC_000013.10:g.103518693G>A	VUS	2 labs	791d1de08e
17:62041068 SCN4A T>C	17	62041068	62041068	T	C	SCN4A	c.1570A>G	NM_000334.4	NP_000325.4:p.(Ser524Gly)	NC_000017.10:g.62041068T>C	(Likely) benign	3 labs	f8aa87d2cb
14:24710453 TINF2 A>G	14	24710453	24710453	A	G	TINF2	c.464T>C	NM_012461.2	NP_036593.2:p.(Leu155Ser)	NC_000014.8:g.24710453A>G	VUS	2 labs	7934b58cfb
3:46937363 PTH1R C>T	3	46937363	46937363	C	T	PTH1R	c.313+4C>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46937363C>T	(Likely) benign	2 labs	793ee7d83a
2:48027824 MSH6 G>A	2	48027824	48027824	G	A	MSH6	c.2702G>A	NM_000179.3	NP_000170.1:p.(Arg901His)	NC_000002.11:g.48027824G>A	VUS	2 labs	f8b6e648a7
7:5662719 RNF216 G>A	7	5662719	5662719	G	A	RNF216	c.2544C>T	NM_207111.3	NP_996994.1:p.(Asn848=)	NC_000007.13:g.5662719G>A	(Likely) benign	2 labs	7943df3bc6
2:166900411 SCN1A C>T	2	166900411	166900411	C	T	SCN1A	c.1811G>A	NM_001165963.4	NP_001159435.1:p.(Arg604His)	NC_000002.11:g.166900411C>T	(Likely) benign	5 labs	7940cb2dfa
20:62321655 RTEL1 G>A	20	62321655	62321655	G	A	RTEL1	c.2274G>A	NM_001283009.1	NP_001269938.1:p.(Ala758=)	NC_000020.10:g.62321655G>A	(Likely) benign	2 labs	7952f7865f
1:27092849 ARID1A A>G	1	27092849	27092849	A	G	ARID1A	c.2870A>G	NM_006015.6	NP_006006.3:p.(Asn957Ser)	NC_000001.10:g.27092849A>G	VUS	3 labs	7956301aa2
X:16142318 GRPR G>A	X	16142318	16142318	G	A	GRPR	c.242G>A	NM_005314.2	NP_005305.1:p.(Ser81Asn)	NC_000023.10:g.16142318G>A	(Likely) benign	2 labs	795682f879
5:156635998 ITK G>A	5	156635998	156635998	G	A	ITK	c.237G>A	NM_005546.3	NP_005537.3:p.(Pro79=)	NC_000005.9:g.156635998G>A	(Likely) benign	2 labs	79568f0f94
5:149743699 TCOF1 G>A	5	149743699	149743699	G	A	TCOF1	c.188G>A	NM_001135243.1	NP_001128715.1:p.(Arg63Gln)	NC_000005.9:g.149743699G>A	(Likely) benign	2 labs	79581ffdb9
1:201328729 TNNT2 G>A	1	201328729	201328729	G	A	TNNT2	c.821+22C>T	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201328729G>A	(Likely) benign	2 labs	7958ef3ca8
X:132888056 GPC3 T>C	X	132888056	132888056	T	C	GPC3	c.485A>G	NM_001164617.1	NP_001158089.1:p.(Asn162Ser)	NC_000023.10:g.132888056T>C	(Likely) benign	3 labs	795b5ca4f4
8:70515476 SULF1 A>G	8	70515476	70515476	A	G	SULF1	c.1111A>G	NM_001128205.2	NP_001121677.1:p.(Ile371Val)	NC_000008.10:g.70515476A>G	(Likely) benign	3 labs	7971aa026b
20:472926 CSNK2A1 T>C	20	472926	472926	T	C	CSNK2A1	c.593A>G	NM_177559.3	NP_808227.1:p.(Lys198Arg)	NC_000020.10:g.472926T>C	(Likely) pathogenic	3 labs	797250e792
X:152991617 ABCD1 A>G	X	152991617	152991617	A	G	ABCD1	c.896A>G	NM_000033.3	NP_000024.2:p.(His299Arg)	NC_000023.10:g.152991617A>G	VUS	2 labs	796bff6a65
11:32450170 WT1 G>A	11	32450170	32450170	G	A	WT1	c.662-5C>T	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32450170G>A	(Likely) benign	2 labs	f8c2223a54
19:55672470 DNAAF3 T>C	19	55672470	55672470	T	C	DNAAF3	c.713A>G	NM_001256716.2	NP_001243645.1:p.(Glu238Gly)	NC_000019.9:g.55672470T>C	(Likely) benign	2 labs	79811ba50f
16:51171126 SALL1 T>C	16	51171126	51171126	T	C	SALL1	c.3872A>G	NM_002968.2	NP_002959.2:p.(Asn1291Ser)	NC_000016.9:g.51171126T>C	(Likely) benign	3 labs	79857a068f
19:50813033 MYH14 G>C	19	50813033	50813033	G	C	MYH14	c.6097G>C	NM_001145809.1	NP_001139281.1:p.(Ala2033Pro)	NC_000019.9:g.50813033G>C	(Likely) benign	2 labs	799012cf83
1:207644397 CR2 T>C	1	207644397	207644397	T	C	CR2	c.1458T>C	NM_001006658.2	NP_001006659.1:p.(Phe486=)	NC_000001.10:g.207644397T>C	(Likely) benign	2 labs	7994a4d5d7
7:103162599 RELN G>C	7	103162599	103162599	G	C	RELN	c.7538C>G	NM_005045.3	NP_005036.2:p.(Ser2513Cys)	NC_000007.13:g.103162599G>C	(Likely) benign	3 labs	79995940bf
14:95597901 DICER1 T>G	14	95597901	95597901	T	G	DICER1	c.383A>C	NM_030621.4	NP_085124.2:p.(Glu128Ala)	NC_000014.8:g.95597901T>G	VUS	2 labs	799e0423d1
2:47288067 TTC7A C>T	2	47288067	47288067	C	T	TTC7A	c.2312C>T	NM_020458.4	NP_065191.2:p.(Ala771Val)	NC_000002.11:g.47288067C>T	VUS	2 labs	79a217e6d0
12:109536366 UNG C>T	12	109536366	109536366	C	T	UNG	c.235C>T	NM_003362.4	NP_003353.1:p.(Arg79Cys)	NC_000012.11:g.109536366C>T	VUS	3 labs	79a6f7eb9f
1:2238158 SKI G>A	1	2238158	2238158	G	A	SKI	c.2141G>A	NM_003036.4	NP_003027.1:p.(Arg714His)	NC_000001.10:g.2238158G>A	(Likely) benign	2 labs	79ae329a14
X:152826254 ATP2B3 C>T	X	152826254	152826254	C	T	ATP2B3	c.2960C>T	NM_001001344.2	NP_001001344.1:p.(Ala987Val)	NC_000023.10:g.152826254C>T	VUS	2 labs	79b6804bdf
19:42857185 MEGF8 G>A	19	42857185	42857185	G	A	MEGF8	c.3456G>A	NM_001271938.2	NP_001258867.1:p.(Pro1152=)	NC_000019.9:g.42857185G>A	VUS	2 labs	79b5243ff2
17:41276142 BRCA1 A>G	17	41276142	41276142	A	G	BRCA1	c.-19-10T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41276142A>G	(Likely) benign	2 labs	79b57502ef
2:122288468 RNU4ATAC C>T	2	122288468	122288468	C	T	RNU4ATAC	n.13C>T	NR_023343.1		NC_000002.11:g.122288468C>T	(Likely) pathogenic	2 labs	f8cb047d13
X:53223826 KDM5C G>A	X	53223826	53223826	G	A	KDM5C	c.3533C>T	NM_004187.3	NP_004178.2:p.(Ser1178Leu)	NC_000023.10:g.53223826G>A	(Likely) benign	2 labs	79bc5e0f28
7:94049732 COL1A2 C>T	7	94049732	94049732	C	T	COL1A2	c.2163C>T	NM_000089.3	NP_000080.2:p.(Gly721=)	NC_000007.13:g.94049732C>T	(Likely) benign	2 labs	79bde2ee90
X:3235216 MXRA5 C>T	X	3235216	3235216	C	T	MXRA5	c.6506G>A	NM_015419.3	NP_056234.2:p.(Ser2169Asn)	NC_000023.10:g.3235216C>T	(Likely) benign	2 labs	79d521cf74
16:76587220 CNTNAP4 G>A	16	76587220	76587220	G	A	CNTNAP4	c.3219G>A	NM_001322189.1	NP_001309118.1:p.(Ala1073=)	NC_000016.9:g.76587220G>A	VUS	2 labs	79d81d9a44
12:48398080 COL2A1 T>A	12	48398080	48398080	T	A	COL2A1	c.25A>T	NM_001844.5	NP_001835.3:p.(Thr9Ser)	NC_000012.11:g.48398080T>A	(Likely) benign	4 labs	79d8f842ee
8:145003629 PLEC C>CCAGCGG	8	145003629	145003639	C	CCAGCGG	PLEC	c.3439_3444dup	NM_201380.4	NP_958782.1:p.(Pro1147_Leu1148dup)	NC_000008.10:g.145003634_145003639dup	VUS	3 labs	79dac571ee
7:116379998 MET G>A	7	116379998	116379998	G	A	MET	c.1393-6G>A	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116379998G>A	(Likely) benign	2 labs	79db2de90f
11:121028877 TECTA G>A	11	121028877	121028877	G	A	TECTA	c.4633G>A	NM_005422.2	NP_005413.2:p.(Val1545Ile)	NC_000011.9:g.121028877G>A	(Likely) benign	2 labs	79dc67f701
15:34553220 SLC12A6 G>A	15	34553220	34553220	G	A	SLC12A6	c.318C>T	NM_133647.2	NP_598408.1:p.(Asp106=)	NC_000015.9:g.34553220G>A	(Likely) benign	2 labs	79dabefff2
2:163167444 IFIH1 C>A	2	163167444	163167444	C	A	IFIH1	c.454-1G>T	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163167444C>A	VUS	3 labs	79e983ca39
1:226034839 TMEM63A T>TCTG	1	226034839	226034858	T	TCTG	TMEM63A	c.2323_2325dup	NM_014698.3	NP_055513.2:p.(Gln775dup)	NC_000001.10:g.226034856_226034858dup	(Likely) benign	2 labs	f8ce664e20
1:160000580 PIGM C>T	1	160000580	160000580	C	T	PIGM	c.950G>A	NM_145167.2	NP_660150.1:p.(Cys317Tyr)	NC_000001.10:g.160000580C>T	VUS	2 labs	79f50797c6
3:38645251 SCN5A T>C	3	38645251	38645251	T	C	SCN5A	c.1842A>G	NM_001099404.2	NP_001092874.1:p.(Pro614=)	NC_000003.11:g.38645251T>C	(Likely) benign	4 labs	f8d31f3f75
1:236925802 ACTN2 G>A	1	236925802	236925802	G	A	ACTN2	c.2568G>A	NM_001103.4	NP_001094.1:p.(Pro856=)	NC_000001.10:g.236925802G>A	(Likely) benign	3 labs	79fcd076f0
2:152373000 NEB G>T	2	152373000	152373000	G	T	NEB	c.22983C>A	NM_001271208.1	NP_001258137.1:p.(Ala7661=)	NC_000002.11:g.152373000G>T	(Likely) benign	3 labs	79fd07948c
8:6357416 MCPH1 C>T	8	6357416	6357416	C	T	MCPH1	c.2180C>T	NM_024596.5	NP_078872.3:p.(Pro727Leu)	NC_000008.10:g.6357416C>T	VUS	2 labs	79fd7bbab1
7:35242055 TBX20 G>A	7	35242055	35242055	G	A	TBX20	c.1331C>T	NM_001077653.2	NP_001071121.1:p.(Thr444Met)	NC_000007.13:g.35242055G>A	VUS	2 labs	7a0400def9
14:65237750 SPTB G>A	14	65237750	65237750	G	A	SPTB	c.5651C>T	NM_001024858.3	NP_001020029.1:p.(Ala1884Val)	NC_000014.8:g.65237750G>A	(Likely) benign	2 labs	7a084ee34c
10:123276974 FGFR2 C>A	10	123276974	123276974	C	A	FGFR2	c.943G>T	NM_000141.5	NP_000132.3:p.(Ala315Ser)	NC_000010.10:g.123276974C>A	(Likely) pathogenic	3 labs	7a09226c33
7:47970707 PKD1L1 G>A	7	47970707	47970707	G	A	PKD1L1	c.731C>T	NM_138295.4	NP_612152.1:p.(Pro244Leu)	NC_000007.13:g.47970707G>A	(Likely) benign	3 labs	7a098263d0
7:103205835 RELN C>T	7	103205835	103205835	C	T	RELN	c.5100G>A	NM_005045.3	NP_005036.2:p.(Glu1700=)	NC_000007.13:g.103205835C>T	(Likely) benign	2 labs	7a16a5c62b
1:216373248 USH2A G>C	1	216373248	216373248	G	C	USH2A	c.3532C>G	NM_206933.4	NP_996816.3:p.(Pro1178Ala)	NC_000001.10:g.216373248G>C	(Likely) benign	3 labs	7a147ce8b7
2:179588272 TTN G>T	2	179588272	179588272	G	T	TTN	c.21555C>A	NM_001267550.2	NP_001254479.2:p.(Ile7185=)	NC_000002.11:g.179588272G>T	(Likely) benign	6 labs	f8dab05b1a
19:33878823 PEPD G>A	19	33878823	33878823	G	A	PEPD	c.1317C>T	NM_000285.3	NP_000276.2:p.(Val439=)	NC_000019.9:g.33878823G>A	(Likely) benign	2 labs	7a2787fabe
1:165712409 TMCO1 G>A	1	165712409	165712409	G	A	TMCO1	c.427C>T	NM_001256165.1	NP_001243094.1:p.(Arg143Ter)	NC_000001.10:g.165712409G>A	(Likely) pathogenic	2 labs	7a312b7308
17:29553492 NF1 C>T	17	29553492	29553492	C	T	NF1	c.2041C>T	NM_000267.3	NP_000258.1:p.(Arg681Ter)	NC_000017.10:g.29553492C>T	(Likely) pathogenic	2 labs	7a3251a95e
19:18188408 IL12RB1 C>T	19	18188408	18188408	C	T	IL12RB1	c.467G>A	NM_005535.3	NP_005526.1:p.(Arg156His)	NC_000019.9:g.18188408C>T	(Likely) benign	3 labs	f8e0cd1274
17:73827205 UNC13D T>C	17	73827205	73827205	T	C	UNC13D	c.2599A>G	NM_199242.3	NP_954712.1:p.(Lys867Glu)	NC_000017.10:g.73827205T>C	(Likely) benign	3 labs	7a4100b064
20:42745035 JPH2 G>A	20	42745035	42745035	G	A	JPH2	c.1289-9C>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42745035G>A	(Likely) benign	3 labs	7a43e0fa5f
10:112581642 RBM20 C>G	10	112581642	112581642	C	G	RBM20	c.3265C>G	NM_001134363.3	NP_001127835.2:p.(Pro1089Ala)	NC_000010.10:g.112581642C>G	(Likely) benign	3 labs	7a3cc3a17d
15:89861766 POLG G>A	15	89861766	89861766	G	A	POLG	c.3482+6C>T	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89861766G>A	(Likely) benign	2 labs	7a479c5766
2:63401973 WDPCP G>A	2	63401973	63401973	G	A	WDPCP	c.1916-6C>T	NM_015910.6	NP_056994.3:p.?	NC_000002.11:g.63401973G>A	(Likely) benign	2 labs	7a4b94f8d9
X:153595873 FLNA C>T	X	153595873	153595873	C	T	FLNA	c.760G>A	NM_001110556.2	NP_001104026.1:p.(Glu254Lys)	NC_000023.10:g.153595873C>T	(Likely) pathogenic	2 labs	7a4da66d6b
3:142183931 ATR C>T	3	142183931	142183931	C	T	ATR	c.7041+8G>A	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142183931C>T	(Likely) benign	2 labs	7a4de44d46
8:100115333 VPS13B T>C	8	100115333	100115333	T	C	VPS13B	c.565T>C	NM_017890.5	NP_060360.3:p.(Phe189Leu)	NC_000008.10:g.100115333T>C	VUS	2 labs	7a4e01e172
X:100364462 CENPI G>C	X	100364462	100364462	G	C	CENPI	c.365G>C	NM_006733.3	NP_006724.2:p.(Gly122Ala)	NC_000023.10:g.100364462G>C	VUS	2 labs	7a52458537
16:2159850 PKD1 G>A	16	2159850	2159850	G	A	PKD1	c.5318C>T	NM_001009944.2	NP_001009944.2:p.(Thr1773Ile)	NC_000016.9:g.2159850G>A	(Likely) benign	3 labs	7a62f59359
10:123276892 FGFR2 C>T	10	123276892	123276892	C	T	FGFR2	c.1025G>A	NM_000141.4	NP_000132.3:p.(Cys342Tyr)	NC_000010.10:g.123276892C>T	(Likely) pathogenic	3 labs	7a6be9d452
6:152534768 SYNE1 C>T	6	152534768	152534768	C	T	SYNE1	c.22473G>A	NM_182961.3	NP_892006.3:p.(Leu7491=)	NC_000006.11:g.152534768C>T	(Likely) benign	2 labs	7a710402ce
3:14172316 TMEM43 T>A	3	14172316	14172316	T	A	TMEM43	c.163-6T>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14172316T>A	(Likely) benign	3 labs	7a7c6f56a4
X:130413265 IGSF1 A>G	X	130413265	130413265	A	G	IGSF1	c.1697T>C	NM_001170961.1	NP_001164432.1:p.(Val566Ala)	NC_000023.10:g.130413265A>G	VUS	2 labs	7a7cff1f88
7:4821332 AP5Z1 C>T	7	4821332	4821332	C	T	AP5Z1	c.313C>T	NM_014855.3	NP_055670.1:p.(His105Tyr)	NC_000007.13:g.4821332C>T	VUS	2 labs	7a847bf2e8
5:127693095 FBN2 C>A	5	127693095	127693095	C	A	FBN2	c.2555-8G>T	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127693095C>A	(Likely) benign	2 labs	7a85b1093d
19:13346528 CACNA1A A>C	19	13346528	13346528	A	C	CACNA1A	c.4970T>G	NM_001127221.2	NP_001120693.1:p.(Leu1657Arg)	NC_000019.9:g.13346528A>C	VUS	2 labs	7a8d3f0699
9:712257 KANK1 G>A	9	712257	712257	G	A	KANK1	c.1491G>A	NM_001256877.2	NP_001243806.1:p.(Ser497=)	NC_000009.11:g.712257G>A	(Likely) benign	2 labs	7a93f32f16
5:149499672 PDGFRB T>C	5	149499672	149499672	T	C	PDGFRB	c.2601A>G	NM_002609.4	NP_002600.1:p.(Leu867=)	NC_000005.9:g.149499672T>C	(Likely) benign	3 labs	7a8df01465
6:152621923 SYNE1 C>T	6	152621923	152621923	C	T	SYNE1	c.17542-7G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152621923C>T	(Likely) benign	2 labs	7a9aff6661
11:34152464 NAT10 C>T	11	34152464	34152464	C	T	NAT10	c.1349C>T	NM_024662.3	NP_078938.3:p.(Thr450Met)	NC_000011.9:g.34152464C>T	(Likely) benign	2 labs	7aa4191ba6
8:144991648 PLEC G>A	8	144991648	144991648	G	A	PLEC	c.12752C>T	NM_201380.3	NP_958782.1:p.(Thr4251Met)	NC_000008.10:g.144991648G>A	VUS	2 labs	7a9fd8044c
14:31355527 COCH C>A	14	31355527	31355527	C	A	COCH	c.1477+9C>A	NM_001135058.1	NP_001128530.1:p.?	NC_000014.8:g.31355527C>A	(Likely) benign	2 labs	7aa7416972
X:152037647 NSDHL G>A	X	152037647	152037647	G	A	NSDHL	c.1109G>A	NM_001129765.1	NP_001123237.1:p.(Arg370Gln)	NC_000023.10:g.152037647G>A	(Likely) benign	2 labs	7aa90e6c73
10:50678722 ERCC6 G>C	10	50678722	50678722	G	C	ERCC6	c.3284C>G	NM_000124.2	NP_000115.1:p.(Pro1095Arg)	NC_000010.10:g.50678722G>C	(Likely) benign	2 labs	7ab03de71d
3:9972602 IL17RC G>A	3	9972602	9972602	G	A	IL17RC	c.1575G>A	NM_153461.3	NP_703191.1:p.(Ala525=)	NC_000003.11:g.9972602G>A	(Likely) benign	2 labs	7ab1181adb
10:71142456 HK1 C>T	10	71142456	71142456	C	T	HK1	c.1491C>T	NM_001358263.1	NP_001345192.1:p.(Ala497=)	NC_000010.10:g.71142456C>T	(Likely) benign	2 labs	7aa6d35dfa
9:139397677 NOTCH1 C>A	9	139397677	139397677	C	A	NOTCH1	c.5124G>T	NM_017617.5	NP_060087.3:p.(Ser1708=)	NC_000009.11:g.139397677C>A	(Likely) benign	4 labs	7abae15b29
13:23913549 SACS T>C	13	23913549	23913549	T	C	SACS	c.4466A>G	NM_014363.6	NP_055178.3:p.(Asn1489Ser)	NC_000013.10:g.23913549T>C	(Likely) benign	4 labs	7ac7f00e29
10:21169720 NEBL T>C	10	21169720	21169720	T	C	NEBL	c.480+3A>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21169720T>C	(Likely) benign	2 labs	7ac9674b1f
10:17152930 CUBN C>T	10	17152930	17152930	C	T	CUBN	c.1003G>A	NM_001081.3	NP_001072.2:p.(Ala335Thr)	NC_000010.10:g.17152930C>T	(Likely) benign	2 labs	7ad3ee4166
1:197073932 ASPM T>C	1	197073932	197073932	T	C	ASPM	c.4449A>G	NM_018136.5	NP_060606.3:p.(Lys1483=)	NC_000001.10:g.197073932T>C	(Likely) benign	3 labs	7ad434faec
8:61654118 CHD7 A>G	8	61654118	61654118	A	G	CHD7				NC_000008.10:g.61654118A>G	(Likely) benign	2 labs	838fbffff5
3:100091535 TOMM70 G>A	3	100091535	100091535	G	A	TOMM70	c.1367C>T	NM_014820.5	NP_055635.3:p.(Ser456Leu)	NC_000003.11:g.100091535G>A	(Likely) benign	2 labs	7ae7b2b097
1:36935317 CSF3R C>T	1	36935317	36935317	C	T	CSF3R	c.1410G>A	NM_156039.3	NP_724781.1:p.(Ala470=)	NC_000001.10:g.36935317C>T	(Likely) benign	2 labs	7ae25933a6
9:126136084 CRB2 G>A	9	126136084	126136084	G	A	CRB2	c.3274G>A	NM_173689.6	NP_775960.4:p.(Glu1092Lys)	NC_000009.11:g.126136084G>A	VUS	2 labs	7ae383a3d8
7:100284045 GIGYF1 G>A	7	100284045	100284045	G	A	GIGYF1	c.706C>T	NM_001375765.1	NP_001362694.1:p.(Arg236Cys)	NC_000007.13:g.100284045G>A	VUS	2 labs	f8fe467ef4
14:23858735 MYH6 A>C	14	23858735	23858735	A	C	MYH6	c.3860-15T>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858735A>C	(Likely) benign	4 labs	7ae21d2ec9
3:178941896 PIK3CA A>G	3	178941896	178941896	A	G	PIK3CA	c.2215A>G	NM_006218.2	NP_006209.2:p.(Met739Val)	NC_000003.11:g.178941896A>G	VUS	2 labs	7aef560091
21:34927501 SON T>C	21	34927501	34927501	T	C	SON	c.5964T>C	NM_138927.2	NP_620305.2:p.(Pro1988=)	NC_000021.8:g.34927501T>C	(Likely) benign	2 labs	7afcca9d93
6:108279290 SEC63 G>A	6	108279290	108279290	G	A	SEC63	c.-77C>T	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108279290G>A	(Likely) benign	2 labs	7afdf53cbb
3:38743473 SCN10A G>A	3	38743473	38743473	G	A	SCN10A	c.4514C>T	NM_006514.4	NP_006505.4:p.(Thr1505Met)	NC_000003.11:g.38743473G>A	VUS	2 labs	7b0ce4e0de
17:4804840 CHRNE A>G	17	4804840	4804840	A	G	CHRNE	c.581T>C	NM_000080.4	NP_000071.1:p.(Ile194Thr)	NC_000017.10:g.4804840A>G	VUS	3 labs	7b0e40ac04
6:51612999 PKHD1 C>A	6	51612999	51612999	C	A	PKHD1	c.9415G>T	NM_138694.3	NP_619639.3:p.(Asp3139Tyr)	NC_000006.11:g.51612999C>A	(Likely) benign	3 labs	7b0f040fc0
6:88231191 RARS2 C>T	6	88231191	88231191	C	T	RARS2	c.501G>A	NM_001350508.1	NP_001337437.1:p.(Met167Ile)	NC_000006.11:g.88231191C>T	VUS	2 labs	7b0f89619b
16:2161852 PKD1 G>C	16	2161852	2161852	G	C	PKD1	c.3316C>G	NM_001009944.2	NP_001009944.2:p.(Leu1106Val)	NC_000016.9:g.2161852G>C	(Likely) benign	3 labs	7b16854486
13:103268854 TPP2 G>C	13	103268854	103268854	G	C	TPP2	c.495+4G>C	NM_003291.4	NP_003282.2:p.?	NC_000013.10:g.103268854G>C	(Likely) benign	2 labs	7b1b942259
19:50367493 PNKP C>T	19	50367493	50367493	C	T	PNKP	c.579G>A	NM_007254.3	NP_009185.2:p.(Arg193=)	NC_000019.9:g.50367493C>T	(Likely) benign	3 labs	7b25737f42
2:97427529 CNNM4 A>C	2	97427529	97427529	A	C	CNNM4	c.793A>C	NM_020184.3	NP_064569.3:p.(Ile265Leu)	NC_000002.11:g.97427529A>C	(Likely) benign	2 labs	7b25d623c7
9:32489407 RIGI T>C	9	32489407	32489407	T	C	RIGI	c.734A>G	NM_014314.3	NP_055129.2:p.(Asn245Ser)	NC_000009.11:g.32489407T>C	(Likely) benign	2 labs	7b29fff2c8
6:7577219 DSP C>T	6	7577219	7577219	C	T	DSP	c.2821C>T	NM_004415.2	NP_004406.2:p.(Arg941Ter)	NC_000006.11:g.7577219C>T	(Likely) pathogenic	3 labs	7b2c456f35
2:15415865 NBAS T>A	2	15415865	15415865	T	A	NBAS	c.5467A>T	NM_015909.3	NP_056993.2:p.(Ile1823Phe)	NC_000002.11:g.15415865T>A	VUS	2 labs	7b34b158af
11:47370041 MYBPC3 T>C	11	47370041	47370041	T	C	MYBPC3	c.706A>G	NM_000256.3	NP_000247.2:p.(Ser236Gly)	NC_000011.9:g.47370041T>C	(Likely) benign	5 labs	f916ca3457
X:153588893 FLNA G>A	X	153588893	153588893	G	A	FLNA	c.3270C>T	NM_001110556.2	NP_001104026.1:p.(Ile1090=)	NC_000023.10:g.153588893G>A	(Likely) benign	3 labs	7b3d09f23a
9:79980392 VPS13A A>C	9	79980392	79980392	A	C	VPS13A	c.8228A>C	NM_033305.3	NP_150648.2:p.(Lys2743Thr)	NC_000009.11:g.79980392A>C	(Likely) benign	2 labs	7b3dda0503
20:42788865 JPH2 G>A	20	42788865	42788865	G	A	JPH2	c.562C>T	NM_020433.5	NP_065166.2:p.(Pro188Ser)	NC_000020.10:g.42788865G>A	(Likely) benign	3 labs	7b3f8fcb98
19:36592585 WDR62 C>T	19	36592585	36592585	C	T	WDR62	c.2991C>T	NM_001083961.2	NP_001077430.1:p.(Ala997=)	NC_000019.9:g.36592585C>T	(Likely) benign	2 labs	7b422a6ec1
19:12766507 MAN2B1 C>G	19	12766507	12766507	C	G	MAN2B1	c.1830+1G>C	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12766507C>G	(Likely) pathogenic	2 labs	7b46e192f2
13:111111185 COL4A2 A>T	13	111111185	111111185	A	T	COL4A2	c.1500A>T	NM_001846.3	NP_001837.2:p.(Gly500=)	NC_000013.10:g.111111185A>T	(Likely) benign	2 labs	7b4eb5f3c1
X:110980097 ALG13 C>T	X	110980097	110980097	C	T	ALG13	c.2451C>T	NM_001257231.1	NP_001244160.1:p.(His817=)	NC_000023.10:g.110980097C>T	(Likely) benign	2 labs	7b55da8049
1:156108341 LMNA G>A	1	156108341	156108341	G	A	LMNA	c.1761G>A	NM_170707.4	NP_733821.1:p.(Leu587=)	NC_000001.10:g.156108341G>A	(Likely) benign	6 labs	7b5d6ead4d
19:13409603 CACNA1A G>C	19	13409603	13409603	G	C	CACNA1A	c.2856C>G	NM_023035.2	NP_075461.2:p.(Arg952=)	NC_000019.9:g.13409603G>C	(Likely) benign	2 labs	7b6bc966f0
1:39823363 MACF1 C>T	1	39823363	39823363	C	T	MACF1	c.5555C>T	NM_012090.5	NP_036222.3:p.(Pro1852Leu)	NC_000001.10:g.39823363C>T	(Likely) benign	2 labs	7b7953c769
X:103043447 PLP1 G>T	X	103043447	103043447	G	T	PLP1	c.696+8G>T	NM_001128834.2	NP_001122306.1:p.?	NC_000023.10:g.103043447G>T	(Likely) benign	2 labs	7b81d745d3
17:11608353 DNAH9 C>G	17	11608353	11608353	C	G	DNAH9	c.5403C>G	NM_001372.3	NP_001363.2:p.(Ala1801=)	NC_000017.10:g.11608353C>G	(Likely) benign	2 labs	7b8b6ff4ef
17:33486562 UNC45B A>G	17	33486562	33486562	A	G	UNC45B	c.977A>G	NM_001033576.1	NP_001028748.1:p.(Asn326Ser)	NC_000017.10:g.33486562A>G	(Likely) benign	2 labs	7b98bb0819
1:92944203 GFI1 G>A	1	92944203	92944203	G	A	GFI1	c.1032C>T	NM_005263.3	NP_005254.2:p.(Tyr344=)	NC_000001.10:g.92944203G>A	(Likely) benign	2 labs	7b9a6b9be8
19:45858100 ERCC2 C>T	19	45858100	45858100	C	T	ERCC2	c.1553G>A	NM_000400.3	NP_000391.1:p.(Arg518Gln)	NC_000019.9:g.45858100C>T	VUS	2 labs	7b9dbade49
13:32893344 BRCA2 A>G	13	32893344	32893344	A	G	BRCA2	c.198A>G	NM_000059.4	NP_000050.3:p.(Gln66=)	NC_000013.10:g.32893344A>G	(Likely) benign	6 labs	7b9f4042a5
15:85341859 ZNF592 G>A	15	85341859	85341859	G	A	ZNF592	c.2777G>A	NM_014630.3	NP_055445.2:p.(Ser926Asn)	NC_000015.9:g.85341859G>A	(Likely) benign	2 labs	7baa36ff7e
5:56161787 MAP3K1 G>A	5	56161787	56161787	G	A	MAP3K1	c.1284G>A	NM_005921.2	NP_005912.1:p.(Thr428=)	NC_000005.9:g.56161787G>A	(Likely) benign	3 labs	7bc1141367
6:31963859 C4A C>A	6	31963859	31963859	C	A	C4A	c.3358C>A	NM_007293.2	NP_009224.2:p.(Pro1120Thr)	NC_000006.11:g.31963859C>A	(Likely) benign	2 labs	7bc306c20a
2:212589894 ERBB4 T>C	2	212589894	212589894	T	C	ERBB4	c.648A>G	NM_005235.2	NP_005226.1:p.(Gln216=)	NC_000002.11:g.212589894T>C	(Likely) benign	2 labs	7bc3b02166
4:6303319 WFS1 C>A	4	6303319	6303319	C	A	WFS1	c.1797C>A	NM_006005.3	NP_005996.2:p.(Val599=)	NC_000004.11:g.6303319C>A	(Likely) benign	3 labs	7bc55b89e9
14:91760640 CCDC88C T>C	14	91760640	91760640	T	C	CCDC88C	c.3989A>G	NM_001080414.4	NP_001073883.2:p.(Asn1330Ser)	NC_000014.8:g.91760640T>C	VUS	3 labs	7bc64fd2ff
13:20717030 GJA3 C>T	13	20717030	20717030	C	T	GJA3	c.398G>A	NM_021954.3	NP_068773.2:p.(Arg133Gln)	NC_000013.10:g.20717030C>T	(Likely) benign	2 labs	7bc9861221
15:48703520 FBN1 T>A	15	48703520	48703520	T	A	FBN1	c.8283A>T	NM_000138.5	NP_000129.3:p.(Thr2761=)	NC_000015.9:g.48703520T>A	(Likely) benign	2 labs	7bcf7710c6
17:41219707 BRCA1 G>A	17	41219707	41219707	G	A	BRCA1	c.4992C>T	NM_007294.4	NP_009225.1:p.(Leu1664=)	NC_000017.10:g.41219707G>A	(Likely) benign	4 labs	7be09023f4
6:31927167 SKIC2 C>T	6	31927167	31927167	C	T	SKIC2	c.116C>T	NM_006929.4	NP_008860.4:p.(Pro39Leu)	NC_000006.11:g.31927167C>T	VUS	2 labs	7c2d5686fd
9:312005 DOCK8 G>A	9	312005	312005	G	A	DOCK8	c.580G>A	NM_203447.3	NP_982272.2:p.(Val194Ile)	NC_000009.11:g.312005G>A	(Likely) benign	2 labs	7bf41b19e0
12:88514912 CEP290 CAT>C	12	88514912	88514916	CAT	C	CEP290	c.1219_1220del	NM_025114.4	NP_079390.3:p.(Met407GlufsTer14)	NC_000012.11:g.88514915_88514916del	(Likely) pathogenic	2 labs	7bf83202c0
1:53676980 CPT2 A>C	1	53676980	53676980	A	C	CPT2	c.1634A>C	NM_000098.2	NP_000089.1:p.(Glu545Ala)	NC_000001.10:g.53676980A>C	VUS	2 labs	7bfbec2128
16:30762886 PHKG2 C>T	16	30762886	30762886	C	T	PHKG2	c.288C>T	NM_000294.2	NP_000285.1:p.(Ser96=)	NC_000016.9:g.30762886C>T	(Likely) benign	2 labs	7c0315a845
1:227171487 COQ8A C>T	1	227171487	227171487	C	T	COQ8A	c.1188C>T	NM_020247.5	NP_064632.2:p.(Asp396=)	NC_000001.10:g.227171487C>T	(Likely) benign	3 labs	7bffdeab8a
6:112496690 LAMA4 G>C	6	112496690	112496690	G	C	LAMA4	c.1190-8C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112496690G>C	(Likely) benign	4 labs	f931084809
8:145638215 SLC39A4 G>A	8	145638215	145638215	G	A	SLC39A4	c.1668C>T	NM_017767.2	NP_060237.2:p.(Val556=)	NC_000008.10:g.145638215G>A	(Likely) benign	2 labs	7c1026af53
2:179467322 TTN T>C	2	179467322	179467322	T	C	TTN	c.54812-5A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467322T>C	(Likely) benign	2 labs	f937b5f78c
3:37070348 MLH1 A>AC	3	37070348	37070354	A	AC	MLH1	c.1489dup	NM_000249.3	NP_000240.1:p.(Arg497ProfsTer6)	NC_000003.11:g.37070354dup	(Likely) pathogenic	2 labs	7c1531ce0b
1:247586658 NLRP3 G>A	1	247586658	247586658	G	A	NLRP3	c.403+7G>A	NM_004895.5	NP_004886.3:p.?	NC_000001.10:g.247586658G>A	(Likely) benign	4 labs	7c14ac8f1e
9:133374932 ASS1 G>A	9	133374932	133374932	G	A	ASS1	c.1168G>A	NM_000050.4	NP_000041.2:p.(Gly390Arg)	NC_000009.11:g.133374932G>A	(Likely) pathogenic	2 labs	f9399f3edf
1:57415242 C8B G>A	1	57415242	57415242	G	A	C8B	c.694C>T	NM_001278543.1	NP_001265472.1:p.(Arg232Ter)	NC_000001.10:g.57415242G>A	(Likely) pathogenic	2 labs	7c1d1666d8
10:69934085 MYPN A>G	10	69934085	69934085	A	G	MYPN	c.2236A>G	NM_032578.4	NP_115967.2:p.(Thr746Ala)	NC_000010.10:g.69934085A>G	(Likely) benign	2 labs	7c2a8c03f4
X:152827588 ATP2B3 C>T	X	152827588	152827588	C	T	ATP2B3	c.3052-5C>T	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152827588C>T	(Likely) benign	2 labs	7c333edb2c
X:153691738 PLXNA3 G>A	X	153691738	153691738	G	A	PLXNA3	c.1322G>A	NM_017514.4	NP_059984.3:p.(Arg441Gln)	NC_000023.10:g.153691738G>A	VUS	2 labs	7c30f7b9c4
4:1801502 FGFR3 C>T	4	1801502	1801502	C	T	FGFR3	c.408C>T	NM_001163213.1	NP_001156685.1:p.(Asp136=)	NC_000004.11:g.1801502C>T	(Likely) benign	2 labs	7c351048f9
5:176637090 NSD1 G>T	5	176637090	176637090	G	T	NSD1	c.1690G>T	NM_022455.4	NP_071900.2:p.(Ala564Ser)	NC_000005.9:g.176637090G>T	(Likely) benign	2 labs	7c389349d0
9:98221872 PTCH1 C>T	9	98221872	98221872	C	T	PTCH1	c.2689+10G>A	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98221872C>T	(Likely) benign	2 labs	7c3c92a038
2:179571644 TTN C>T	2	179571644	179571644	C	T	TTN	c.29079G>A	NM_001267550.2	NP_001254479.2:p.(Ala9693=)	NC_000002.11:g.179571644C>T	(Likely) benign	4 labs	7c3d8c1d46
1:161599831 FCGR3B G>T	1	161599831	161599831	G	T	FCGR3B	c.11-6C>A	NM_001271036.1	NP_001257965.1:p.?	NC_000001.10:g.161599831G>T	(Likely) benign	2 labs	7c3ddd8177
16:2132513 TSC2 C>G	16	2132513	2132513	C	G	TSC2	c.3883+8C>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2132513C>G	(Likely) benign	2 labs	7fe22383f5
13:28498404 PDX1 G>A	13	28498404	28498404	G	A	PDX1	c.418G>A	NM_000209.3	NP_000200.1:p.(Ala140Thr)	NC_000013.10:g.28498404G>A	(Likely) benign	2 labs	7c51d009f7
11:68181416 LRP5 C>T	11	68181416	68181416	C	T	LRP5	c.2763C>T	NM_002335.4	NP_002326.2:p.(Pro921=)	NC_000011.9:g.68181416C>T	(Likely) benign	3 labs	7c4c0d66b8
17:41258551 BRCA1 C>G	17	41258551	41258551	C	G	BRCA1	c.-7-1G>C	NM_007297.4	NP_009228.2:p.?	NC_000017.10:g.41258551C>G	(Likely) pathogenic	2 labs	7c5f8497dd
17:18024013 MYO15A A>G	17	18024013	18024013	A	G	MYO15A	c.1899A>G	NM_016239.4	NP_057323.3:p.(Pro633=)	NC_000017.10:g.18024013A>G	(Likely) benign	3 labs	7c7105add3
18:29410900 TRAPPC8 A>G	18	29410900	29410900	A	G	TRAPPC8	c.4126T>C	NM_014939.4	NP_055754.2:p.(Tyr1376His)	NC_000018.9:g.29410900A>G	(Likely) benign	2 labs	7c6af2bc05
2:179475039 TTN C>G	2	179475039	179475039	C	G	TTN	c.43510G>C	NM_133378.4	NP_596869.4:p.(Glu14504Gln)	NC_000002.11:g.179475039C>G	VUS	2 labs	7c62160464
16:2160409 PKD1 G>A	16	2160409	2160409	G	A	PKD1	c.4759C>T	NM_001009944.2	NP_001009944.2:p.(Arg1587Cys)	NC_000016.9:g.2160409G>A	VUS	2 labs	7c74b3f149
2:179655541 TTN G>T	2	179655541	179655541	G	T	TTN	c.1694C>A	NM_001267550.2	NP_001254479.2:p.(Ser565Tyr)	NC_000002.11:g.179655541G>T	VUS	3 labs	f93d4bc6a1
X:12725042 FRMPD4 CTT>C	X	12725042	12725060	CTT	C	FRMPD4	c.1287+25_1287+26del	NM_001368397.1	NP_001355326.1:p.?	NC_000023.10:g.12725059_12725060del	(Likely) benign	2 labs	7c7fb31cb0
X:18671566 CDKL5 G>A	X	18671566	18671566	G	A	CDKL5	c.2995G>A	NM_003159.2	NP_003150.1:p.(Val999Met)	NC_000023.10:g.18671566G>A	(Likely) benign	2 labs	7c826bc2d3
6:152623127 SYNE1 C>T	6	152623127	152623127	C	T	SYNE1	c.17418G>A	NM_182961.3	NP_892006.3:p.(Thr5806=)	NC_000006.11:g.152623127C>T	(Likely) benign	2 labs	7c84dadd8d
14:75471592 EIF2B2 C>T	14	75471592	75471592	C	T	EIF2B2	c.586C>T	NM_014239.4	NP_055054.1:p.(Pro196Ser)	NC_000014.8:g.75471592C>T	(Likely) pathogenic	3 labs	f941721174
1:240256761 FMN2 T>A	1	240256761	240256761	T	A	FMN2	c.1352T>A	NM_001305424.2	NP_001292353.1:p.(Leu451Gln)	NC_000001.10:g.240256761T>A	(Likely) benign	2 labs	7c897aa003
5:172659686 NKX2-5 G>A	5	172659686	172659686	G	A	NKX2-5	c.861C>T	NM_004387.4	NP_004378.1:p.(Ala287=)	NC_000005.9:g.172659686G>A	(Likely) benign	2 labs	7c8c7880fc
X:76938536 ATRX G>C	X	76938536	76938536	G	C	ATRX	c.2212C>G	NM_000489.5	NP_000480.3:p.(Leu738Val)	NC_000023.10:g.76938536G>C	VUS	2 labs	7c9b6464ae
2:179411195 TTN G>A	2	179411195	179411195	G	A	TTN	c.94863C>T	NM_001267550.2	NP_001254479.2:p.(His31621=)	NC_000002.11:g.179411195G>A	(Likely) benign	4 labs	7c9fd2f520
8:145540230 DGAT1 G>A	8	145540230	145540230	G	A	DGAT1	c.1454C>T	NM_012079.5	NP_036211.2:p.(Ala485Val)	NC_000008.10:g.145540230G>A	(Likely) benign	2 labs	7ca43ed9fa
16:14721009 PARN G>A	16	14721009	14721009	G	A	PARN	c.281C>T	NM_002582.4	NP_002573.1:p.(Pro94Leu)	NC_000016.9:g.14721009G>A	VUS	2 labs	7cb52b9452
10:88476373 LDB3 C>T	10	88476373	88476373	C	T	LDB3	c.1521C>T	NM_007078.2	NP_009009.1:p.(Thr507=)	NC_000010.10:g.88476373C>T	(Likely) benign	2 labs	7cbb086720
11:108121410 ATM C>CT	11	108121410	108121425	C	CT	ATM	c.1236-3dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121425dup	(Likely) benign	6 labs	7cc3feaa46
19:50365981 PNKP C>T	19	50365981	50365981	C	T	PNKP	c.831G>A	NM_007254.3	NP_009185.2:p.(Thr277=)	NC_000019.9:g.50365981C>T	(Likely) benign	2 labs	7cc68783b0
8:61765500 CHD7 C>G	8	61765500	61765500	C	G	CHD7				NC_000008.10:g.61765500C>G	(Likely) benign	2 labs	add916eafd
1:171621386 MYOC G>A	1	171621386	171621386	G	A	MYOC	c.366C>T	NM_000261.2	NP_000252.1:p.(Gly122=)	NC_000001.10:g.171621386G>A	(Likely) benign	2 labs	7cc59e4cc0
1:152279196 FLG C>T	1	152279196	152279196	C	T	FLG	c.8166G>A	NM_002016.2	NP_002007.1:p.(Glu2722=)	NC_000001.10:g.152279196C>T	(Likely) benign	2 labs	7cc8ee5e20
14:23863267 MYH6 G>A	14	23863267	23863267	G	A	MYH6	c.2685+10C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863267G>A	(Likely) benign	5 labs	7cd83a5711
5:176562861 NSD1 C>G	5	176562861	176562861	C	G	NSD1	c.757C>G	NM_022455.4	NP_071900.2:p.(Leu253Val)	NC_000005.9:g.176562861C>G	VUS	2 labs	7cd6be2f26
15:63972271 HERC1 A>G	15	63972271	63972271	A	G	HERC1	c.6549+5T>C	NM_003922.3	NP_003913.3:p.?	NC_000015.9:g.63972271A>G	(Likely) benign	2 labs	7cd7e4e155
15:63336291 TPM1 C>T	15	63336291	63336291	C	T	TPM1	c.180C>T	NM_001018004.2	NP_001018004.1:p.(Tyr60=)	NC_000015.9:g.63336291C>T	(Likely) benign	3 labs	f947c4f95d
19:11557938 PRKCSH G>A	19	11557938	11557938	G	A	PRKCSH	c.812G>A	NM_001289103.1	NP_001276032.1:p.(Arg271His)	NC_000019.9:g.11557938G>A	(Likely) benign	2 labs	7ce03d56c1
19:55672569 DNAAF3 G>A	19	55672569	55672569	G	A	DNAAF3	c.628-14C>T	NM_001256716.2	NP_001243645.1:p.?	NC_000019.9:g.55672569G>A	(Likely) benign	2 labs	7ceb05bdc8
2:179478861 TTN G>A	2	179478861	179478861	G	A	TTN	c.49263C>T	NM_001267550.2	NP_001254479.2:p.(Tyr16421=)	NC_000002.11:g.179478861G>A	(Likely) benign	2 labs	f947c93b4a
3:196199128 RNF168 G>A	3	196199128	196199128	G	A	RNF168	c.1278C>T	NM_152617.3	NP_689830.2:p.(Thr426=)	NC_000003.11:g.196199128G>A	(Likely) benign	2 labs	7cf91c844c
2:48032127 MSH6 G>GTGTT	2	48032127	48032132	G	GTGTT	MSH6	c.3519_3522dup	NM_000179.2	NP_000170.1:p.(Thr1175ValfsTer3)	NC_000002.11:g.48032129_48032132dup	(Likely) pathogenic	2 labs	7cfebe1d2e
3:123359363 MYLK C>T	3	123359363	123359363	C	T	MYLK	c.4620-12G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123359363C>T	(Likely) benign	3 labs	7cfea0f7c2
18:10759507 PIEZO2 C>T	18	10759507	10759507	C	T	PIEZO2	c.3655G>A	NM_022068.3	NP_071351.2:p.(Val1219Met)	NC_000018.9:g.10759507C>T	(Likely) benign	3 labs	7cff7a9da8
15:77328269 PSTPIP1 C>T	15	77328269	77328269	C	T	PSTPIP1	c.1085C>T	NM_001321136.1	NP_001308065.1:p.(Thr362Ile)	NC_000015.9:g.77328269C>T	(Likely) benign	2 labs	7cffe27de0
14:35871659 NFKBIA T>A	14	35871659	35871659	T	A	NFKBIA	c.847A>T	NM_020529.2	NP_065390.1:p.(Ser283Cys)	NC_000014.8:g.35871659T>A	VUS	2 labs	7d02f93035
19:10260337 DNMT1 G>A	19	10260337	10260337	G	A	DNMT1	c.2382-4C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10260337G>A	(Likely) benign	3 labs	7d04bf3ba5
1:3301721 PRDM16 C>T	1	3301721	3301721	C	T	PRDM16	c.444C>T	NM_022114.4	NP_071397.3:p.(Ser148=)	NC_000001.10:g.3301721C>T	(Likely) benign	3 labs	7d0bac76db
2:27693802 IFT172 G>C	2	27693802	27693802	G	C	IFT172	c.1685C>G	NM_015662.3	NP_056477.1:p.(Thr562Ser)	NC_000002.11:g.27693802G>C	(Likely) benign	5 labs	7d10cf7aab
10:123247669 FGFR2 AC>A	10	123247669	123247670	AC	A	FGFR2	c.1864-43del	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123247670del	(Likely) benign	2 labs	7d152e651b
20:31024450 ASXL1 C>T	20	31024450	31024450	C	T	ASXL1	c.3935C>T	NM_015338.5	NP_056153.2:p.(Ala1312Val)	NC_000020.10:g.31024450C>T	(Likely) benign	2 labs	7d1e735da0
5:77311370 AP3B1 C>T	5	77311370	77311370	C	T	AP3B1	c.2848G>A	NM_001271769.1	NP_001258698.1:p.(Val950Met)	NC_000005.9:g.77311370C>T	(Likely) benign	2 labs	7d2275a5e1
11:47372145 MYBPC3 GC>G	11	47372145	47372147	GC	G	MYBPC3	c.313del	NM_000256.3	NP_000247.2:p.(Ala105ProfsTer54)	NC_000011.9:g.47372147del	(Likely) pathogenic	2 labs	7d2831d3b1
1:112524680 KCND3 C>G	1	112524680	112524680	C	G	KCND3	c.669G>C	NM_004980.5	NP_004971.2:p.(Ser223=)	NC_000001.10:g.112524680C>G	(Likely) benign	2 labs	7d25d7f16f
1:196953086 CFHR5 C>T	1	196953086	196953086	C	T	CFHR5	c.254-5C>T	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196953086C>T	(Likely) benign	3 labs	7d3c490ce4
12:103240701 PAH G>T	12	103240701	103240701	G	T	PAH	c.941C>A	NM_000277.1	NP_000268.1:p.(Pro314His)	NC_000012.11:g.103240701G>T	(Likely) pathogenic	3 labs	7d3ff95c2f
15:41388452 INO80 G>A	15	41388452	41388452	G	A	INO80	c.57C>T	NM_017553.3	NP_060023.1:p.(Pro19=)	NC_000015.9:g.41388452G>A	(Likely) benign	2 labs	7d4e77ec70
7:103179766 RELN A>G	7	103179766	103179766	A	G	RELN	c.6939T>C	NM_005045.4	NP_005036.2:p.(Ile2313=)	NC_000007.13:g.103179766A>G	(Likely) benign	2 labs	7d4d4e3e89
2:45171753 SIX3 G>A	2	45171753	45171753	G	A	SIX3	c.853G>A	NM_005413.4	NP_005404.1:p.(Glu285Lys)	NC_000002.11:g.45171753G>A	VUS	2 labs	f96657c9cf
7:26233189 HNRNPA2B1 T>C	7	26233189	26233189	T	C	HNRNPA2B1	c.877+6A>G	NM_031243.2	NP_112533.1:p.?	NC_000007.13:g.26233189T>C	(Likely) benign	2 labs	7d516dd8c2
4:110866442 EGF G>A	4	110866442	110866442	G	A	EGF	c.940+11G>A	NM_001963.6	NP_001954.2:p.?	NC_000004.11:g.110866442G>A	(Likely) benign	2 labs	f96ace0637
11:4076824 STIM1 G>A	11	4076824	4076824	G	A	STIM1	c.454G>A	NM_003156.4	NP_003147.2:p.(Glu152Lys)	NC_000011.9:g.4076824G>A	VUS	2 labs	f97856b0bf
1:156105885 LMNA G>T	1	156105885	156105885	G	T	LMNA	c.1130G>T	NM_170707.4	NP_733821.1:p.(Arg377Leu)	NC_000001.10:g.156105885G>T	(Likely) pathogenic	4 labs	7d6126b2cc
6:32016239 TNXB C>T	6	32016239	32016239	C	T	TNXB	c.9940G>A	NM_019105.8	NP_061978.6:p.(Ala3314Thr)	NC_000006.11:g.32016239C>T	(Likely) benign	3 labs	7d624f4055
2:179604589 TTN G>A	2	179604589	179604589	G	A	TTN	c.13371C>T	NM_001267550.2	NP_001254479.2:p.(Ile4457=)	NC_000002.11:g.179604589G>A	(Likely) benign	2 labs	f97e8c5740
16:2156264 PKD1 C>T	16	2156264	2156264	C	T	PKD1	c.7531G>A	NM_001009944.2	NP_001009944.2:p.(Ala2511Thr)	NC_000016.9:g.2156264C>T	(Likely) benign	2 labs	7d6f3d4b13
18:77496530 CTDP1 G>A	18	77496530	77496530	G	A	CTDP1	c.2747+9G>A	NM_004715.4	NP_004706.3:p.?	NC_000018.9:g.77496530G>A	(Likely) benign	2 labs	7d6f6a8dde
6:167369655 RNASET2 G>A	6	167369655	167369655	G	A	RNASET2				NC_000006.11:g.167369655G>A	(Likely) benign	2 labs	7d71af7a66
1:196712620 CFH T>C	1	196712620	196712620	T	C	CFH	c.3172T>C	NM_000186.4	NP_000177.2:p.(Tyr1058His)	NC_000001.10:g.196712620T>C	(Likely) benign	4 labs	7d78eff6e2
6:56357844 DST T>C	6	56357844	56357844	T	C	DST	c.14081A>G	NM_001144769.5	NP_001138241.1:p.(Asn4694Ser)	NC_000006.11:g.56357844T>C	VUS	3 labs	f98244796e
6:138202258 TNFAIP3 G>A	6	138202258	138202258	G	A	TNFAIP3	c.2175G>A	NM_001270507.1	NP_001257436.1:p.(Leu725=)	NC_000006.11:g.138202258G>A	(Likely) benign	2 labs	7d7f516153
12:48371428 COL2A1 G>A	12	48371428	48371428	G	A	COL2A1	c.3120C>T	NM_001844.5	NP_001835.3:p.(Pro1040=)	NC_000012.11:g.48371428G>A	(Likely) benign	2 labs	7d7f0c3cd9
11:95826052 MAML2 C>A	11	95826052	95826052	C	A	MAML2	c.1143G>T	NM_032427.4	NP_115803.1:p.(Gln381His)	NC_000011.9:g.95826052C>A	VUS	2 labs	7d9357b9cb
20:31381362 DNMT3B C>T	20	31381362	31381362	C	T	DNMT3B	c.1087C>T	NM_006892.4	NP_008823.1:p.(Arg363Cys)	NC_000020.10:g.31381362C>T	VUS	2 labs	7db1f24b28
X:153608290 EMD C>T	X	153608290	153608290	C	T	EMD	c.188-12C>T	NM_000117.2	NP_000108.1:p.?	NC_000023.10:g.153608290C>T	(Likely) benign	2 labs	7db65b11f3
19:4099228 MAP2K2 C>T	19	4099228	4099228	C	T	MAP2K2	c.890G>A	NM_030662.3	NP_109587.1:p.(Arg297Gln)	NC_000019.9:g.4099228C>T	(Likely) benign	2 labs	7db7786e10
6:161160184 PLG G>T	6	161160184	161160184	G	T	PLG	c.1962G>T	NM_000301.3	NP_000292.1:p.(Val654=)	NC_000006.11:g.161160184G>T	(Likely) benign	2 labs	7db9c427de
5:112162944 APC G>C	5	112162944	112162944	G	C	APC				NC_000005.9:g.112162944G>C	(Likely) pathogenic	2 labs	7dc26493ff
10:69926334 MYPN C>G	10	69926334	69926334	C	G	MYPN	c.1884C>G	NM_032578.4	NP_115967.2:p.(Phe628Leu)	NC_000010.10:g.69926334C>G	(Likely) benign	2 labs	f995af815d
2:98354113 ZAP70 C>T	2	98354113	98354113	C	T	ZAP70	c.1467C>T	NM_001079.3	NP_001070.2:p.(Asp489=)	NC_000002.11:g.98354113C>T	(Likely) benign	2 labs	7dc8984973
4:656915 PDE6B AC>A	4	656915	656916	AC	A	PDE6B	c.1860del	NM_000283.4	NP_000274.3:p.(His620GlnfsTer23)	NC_000004.11:g.656916del	(Likely) pathogenic	2 labs	7dcac2da37
5:39311376 C9 G>A	5	39311376	39311376	G	A	C9	c.974C>T	NM_001737.5	NP_001728.1:p.(Ala325Val)	NC_000005.9:g.39311376G>A	VUS	2 labs	7ddc8e002a
6:33272270 TAPBP G>A	6	33272270	33272270	G	A	TAPBP	c.1014C>T	NM_003190.4	NP_003181.3:p.(Gly338=)	NC_000006.11:g.33272270G>A	(Likely) benign	2 labs	7dd44622aa
7:6026988 PMS2 G>A	7	6026988	6026988	G	A	PMS2	c.1408C>T	NM_000535.7	NP_000526.2:p.(Pro470Ser)	NC_000007.13:g.6026988G>A	(Likely) benign	4 labs	f99a7f469f
22:29091089 CHEK2 A>G	22	29091089	29091089	A	G	CHEK2	c.1375+26T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091089A>G	(Likely) benign	2 labs	7de0c8ed4f
3:4714841 ITPR1 G>A	3	4714841	4714841	G	A	ITPR1	c.2226G>A	NM_001099952.2	NP_001093422.2:p.(Ala742=)	NC_000003.11:g.4714841G>A	(Likely) benign	2 labs	7de4d02801
16:85682235 GSE1 C>T	16	85682235	85682235	C	T	GSE1	c.-9C>T	NM_001134473.3	NP_001127945.1:p.?	NC_000016.9:g.85682235C>T	VUS	2 labs	7de5c84cc0
11:6629665 ILK C>T	11	6629665	6629665	C	T	ILK	c.297C>T	NM_004517.4	NP_004508.1:p.(His99=)	NC_000011.9:g.6629665C>T	(Likely) benign	2 labs	7de9645f60
12:8814687 MFAP5 C>T	12	8814687	8814687	C	T	MFAP5	c.14G>A	NM_003480.4	NP_003471.1:p.(Gly5Glu)	NC_000012.11:g.8814687C>T	VUS	2 labs	8181d0e2f7
6:31929758 SKIC2 G>A	6	31929758	31929758	G	A	SKIC2	c.991G>A	NM_006929.4	NP_008860.4:p.(Ala331Thr)	NC_000006.11:g.31929758G>A	VUS	2 labs	7df8cfd113
1:22156041 HSPG2 C>T	1	22156041	22156041	C	T	HSPG2	c.11830G>A	NM_001291860.1	NP_001278789.1:p.(Ala3944Thr)	NC_000001.10:g.22156041C>T	(Likely) benign	2 labs	7dfccc37c4
6:33137252 COL11A2 G>A	6	33137252	33137252	G	A	COL11A2	c.3706C>T	NM_080680.2	NP_542411.2:p.(Arg1236Cys)	NC_000006.11:g.33137252G>A	VUS	2 labs	7dfced8ca4
22:26423285 MYO18B C>T	22	26423285	26423285	C	T	MYO18B	c.7348C>T	NM_001318245.1	NP_001305174.1:p.(Arg2450Trp)	NC_000022.10:g.26423285C>T	(Likely) benign	2 labs	7e00ae93af
1:22964176 C1QA G>A	1	22964176	22964176	G	A	C1QA	c.67G>A	NM_001347465.1	NP_001334394.1:p.(Glu23Lys)	NC_000001.10:g.22964176G>A	(Likely) benign	2 labs	7e0d066f6e
16:81914554 PLCG2 C>T	16	81914554	81914554	C	T	PLCG2	c.688C>T	NM_002661.3	NP_002652.2:p.(Leu230=)	NC_000016.9:g.81914554C>T	(Likely) benign	2 labs	7e0e624e2a
11:46726554 ZNF408 G>A	11	46726554	46726554	G	A	ZNF408	c.1304G>A	NM_024741.2	NP_079017.1:p.(Arg435Gln)	NC_000011.9:g.46726554G>A	VUS	2 labs	7e11dd80ce
12:48539482 PFKM T>G	12	48539482	48539482	T	G	PFKM	c.2547T>G	NM_001166686.2	NP_001160158.1:p.(Ala849=)	NC_000012.11:g.48539482T>G	(Likely) benign	2 labs	f9a13157fc
22:19766828 TBX1 A>G	22	19766828	19766828	A	G	TBX1	c.1095A>G	NM_080646.1	NP_542377.1:p.(Ala365=)	NC_000022.10:g.19766828A>G	(Likely) benign	3 labs	7e20e11b2a
11:20673878 SLC6A5 A>G	11	20673878	20673878	A	G	SLC6A5	c.2114A>G	NM_004211.4	NP_004202.3:p.(Tyr705Cys)	NC_000011.9:g.20673878A>G	(Likely) benign	3 labs	7e222cef3e
17:29556900 NF1 TA>T	17	29556900	29556901	TA	T	NF1	c.2899del	NM_001042492.3	NP_001035957.1:p.(Ile967Ter)	NC_000017.10:g.29556901del	(Likely) pathogenic	2 labs	7e29ffc2fe
9:420945 DOCK8 C>T	9	420945	420945	C	T	DOCK8	c.4024-4C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.420945C>T	(Likely) benign	3 labs	7e2af5e841
14:23885258 MYH7 G>A	14	23885258	23885258	G	A	MYH7	c.4908C>T	NM_000257.4	NP_000248.2:p.(Ala1636=)	NC_000014.8:g.23885258G>A	(Likely) benign	5 labs	7e2e91626c
13:111164266 COL4A2 C>T	13	111164266	111164266	C	T	COL4A2	c.4882-15C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111164266C>T	(Likely) benign	2 labs	7e36423ef4
2:48010580 MSH6 A>G	2	48010580	48010580	A	G	MSH6	c.208A>G	NM_000179.2	NP_000170.1:p.(Lys70Glu)	NC_000002.11:g.48010580A>G	(Likely) benign	2 labs	7e37f7e96a
2:179586756 TTN C>T	2	179586756	179586756	C	T	TTN	c.22634G>A	NM_001267550.2	NP_001254479.2:p.(Arg7545Gln)	NC_000002.11:g.179586756C>T	(Likely) benign	6 labs	7e3e317658
4:79334148 FRAS1 C>T	4	79334148	79334148	C	T	FRAS1	c.4334C>T	NM_025074.7	NP_079350.5:p.(Thr1445Ile)	NC_000004.11:g.79334148C>T	(Likely) benign	3 labs	7e3f0ea660
22:21348258 LZTR1 AGCCGCTGGCTTCGCAGGAAGATCACGC>A	22	21348258	21348285	AGCCGCTGGCTTCGCAGGAAGATCACGC	A	LZTR1	c.1400_1426del	NM_006767.4	NP_006758.2:p.(Ser467_Gln476delinsLys)	NC_000022.10:g.21348259_21348285del	VUS	2 labs	7e3d2faf82
7:148526908 EZH2 A>G	7	148526908	148526908	A	G	EZH2	c.396T>C	NM_004456.4	NP_004447.2:p.(Pro132=)	NC_000007.13:g.148526908A>G	(Likely) benign	3 labs	7e3efae5ea
11:76903211 MYO7A G>A	11	76903211	76903211	G	A	MYO7A	c.4040G>A	NM_000260.3	NP_000251.3:p.(Arg1347His)	NC_000011.9:g.76903211G>A	VUS	3 labs	7e4048b3f2
2:179456541 TTN T>C	2	179456541	179456541	T	C	TTN	c.60005A>G	NM_001267550.2	NP_001254479.2:p.(Asp20002Gly)	NC_000002.11:g.179456541T>C	(Likely) benign	3 labs	7e3c3bf0f1
14:24710272 TINF2 AG>A	14	24710272	24710273	AG	A	TINF2	c.557del	NM_001099274.3	NP_001092744.1:p.(Ser186PhefsTer24)	NC_000014.8:g.24710273del	(Likely) pathogenic	2 labs	7e425ba9fa
2:179472662 TTN G>A	2	179472662	179472662	G	A	TTN	c.52852C>T	NM_001267550.2	NP_001254479.2:p.(Arg17618Cys)	NC_000002.11:g.179472662G>A	(Likely) benign	6 labs	f9a4b682c2
15:48734051 FBN1 A>T	15	48734051	48734051	A	T	FBN1	c.6038-8T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48734051A>T	(Likely) benign	2 labs	7e48027d99
10:121436306 BAG3 G>A	10	121436306	121436306	G	A	BAG3	c.1240G>A	NM_004281.4	NP_004272.2:p.(Glu414Lys)	NC_000010.10:g.121436306G>A	(Likely) benign	3 labs	f9a85a7683
5:112175639 APC C>T	5	112175639	112175639	C	T	APC				NC_000005.9:g.112175639C>T	(Likely) pathogenic	2 labs	7e4f05aab4
X:153583046 FLNA G>A	X	153583046	153583046	G	A	FLNA	c.5251C>T	NM_001110556.2	NP_001104026.1:p.(Pro1751Ser)	NC_000023.10:g.153583046G>A	(Likely) benign	4 labs	7e55db0bfc
11:61546756 MYRF G>A	11	61546756	61546756	G	A	MYRF	c.2035G>A	NM_001127392.3	NP_001120864.1:p.(Val679Ile)	NC_000011.9:g.61546756G>A	VUS	2 labs	7e5dbcbe4a
16:84056405 SLC38A8 G>A	16	84056405	84056405	G	A	SLC38A8	c.780C>T	NM_001080442.3	NP_001073911.1:p.(Ala260=)	NC_000016.9:g.84056405G>A	(Likely) benign	2 labs	7e69e780c0
1:216496932 USH2A C>G	1	216496932	216496932	C	G	USH2A	c.1434G>C	NM_206933.2	NP_996816.2:p.(Glu478Asp)	NC_000001.10:g.216496932C>G	(Likely) benign	2 labs	7e6c1cc1c5
5:127640783 FBN2 G>A	5	127640783	127640783	G	A	FBN2	c.5675-9C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640783G>A	(Likely) benign	4 labs	7e70f5a4f3
3:193355074 OPA1 T>C	3	193355074	193355074	T	C	OPA1	c.1035+4T>C	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193355074T>C	(Likely) benign	2 labs	f9acccbda2
18:43490652 EPG5 T>G	18	43490652	43490652	T	G	EPG5	c.4039A>C	NM_020964.3	NP_066015.2:p.(Asn1347His)	NC_000018.9:g.43490652T>G	(Likely) benign	2 labs	7e74a59001
X:76777845 ATRX T>C	X	76777845	76777845	T	C	ATRX	c.6871A>G	NM_000489.5	NP_000480.3:p.(Ile2291Val)	NC_000023.10:g.76777845T>C	(Likely) benign	2 labs	7e7f00f045
1:200617683 DDX59 C>T	1	200617683	200617683	C	T	DDX59	c.1480G>A	NM_001031725.5	NP_001026895.2:p.(Gly494Arg)	NC_000001.10:g.200617683C>T	VUS	2 labs	7e822afac0
20:57428858 GNAS C>T	20	57428858	57428858	C	T	GNAS	c.538C>T	NM_080425.4	NP_536350.2:p.(Gln180Ter)	NC_000020.10:g.57428858C>T	VUS	5 labs	f9add3861a
16:88803092 PIEZO1 G>A	16	88803092	88803092	G	A	PIEZO1	c.1251C>T	NM_001142864.4	NP_001136336.2:p.(His417=)	NC_000016.9:g.88803092G>A	(Likely) benign	2 labs	7e90a6019e
21:47532440 COL6A2 C>T	21	47532440	47532440	C	T	COL6A2	c.663C>T	NM_058175.3	NP_478055.2:p.(Pro221=)	NC_000021.8:g.47532440C>T	(Likely) benign	3 labs	f9b0199cde
7:91630493 AKAP9 G>A	7	91630493	91630493	G	A	AKAP9	c.1262G>A	NM_005751.5	NP_005742.4:p.(Arg421Gln)	NC_000007.13:g.91630493G>A	VUS	2 labs	f9b46d95ba
10:75393674 MYOZ1 A>C	10	75393674	75393674	A	C	MYOZ1	c.652T>G	NM_021245.4	NP_067068.1:p.(Tyr218Asp)	NC_000010.10:g.75393674A>C	(Likely) benign	3 labs	7e9dcd6222
10:102539297 PAX2 G>A	10	102539297	102539297	G	A	PAX2	c.453G>A	NM_003988.4	NP_003979.2:p.(Pro151=)	NC_000010.10:g.102539297G>A	(Likely) benign	2 labs	7e9e802b6d
11:126318993 KIRREL3 A>G	11	126318993	126318993	A	G	KIRREL3	c.908T>C	NM_032531.4	NP_115920.1:p.(Val303Ala)	NC_000011.9:g.126318993A>G	VUS	2 labs	7eb2d8d8de
5:180043388 FLT4 G>A	5	180043388	180043388	G	A	FLT4	c.3198C>T	NM_182925.5	NP_891555.2:p.(Pro1066=)	NC_000005.9:g.180043388G>A	(Likely) benign	3 labs	f9b88f07e0
8:143957235 CYP11B1 C>T	8	143957235	143957235	C	T	CYP11B1	c.1014G>A	NM_000497.3	NP_000488.3:p.(Gln338=)	NC_000008.10:g.143957235C>T	(Likely) benign	2 labs	7eaf26e3cc
19:46269206 SIX5 C>A	19	46269206	46269206	C	A	SIX5	c.1773G>T	NM_175875.4	NP_787071.2:p.(Thr591=)	NC_000019.9:g.46269206C>A	(Likely) benign	2 labs	7eb5978121
13:32913609 BRCA2 A>C	13	32913609	32913609	A	C	BRCA2	c.5117A>C	NM_000059.4	NP_000050.3:p.(Asn1706Thr)	NC_000013.10:g.32913609A>C	(Likely) benign	6 labs	7eb5cb685c
18:72997906 TSHZ1 A>G	18	72997906	72997906	A	G	TSHZ1	c.409A>G	NM_005786.5	NP_005777.3:p.(Ser137Gly)	NC_000018.9:g.72997906A>G	(Likely) benign	2 labs	7ebae49103
2:182413531 CERKL G>A	2	182413531	182413531	G	A	CERKL	c.1027C>T	NM_001030311.3	NP_001025482.1:p.(Arg343Cys)	NC_000002.11:g.182413531G>A	VUS	3 labs	7ec4d4896d
2:179593270 TTN A>G	2	179593270	179593270	A	G	TTN	c.19383T>C	NM_001267550.2	NP_001254479.2:p.(Asn6461=)	NC_000002.11:g.179593270A>G	(Likely) benign	5 labs	7ec8e1fd90
4:123665070 BBS12 C>T	4	123665070	123665070	C	T	BBS12	c.2023C>T	NM_001178007.1	NP_001171478.1:p.(Arg675Ter)	NC_000004.11:g.123665070C>T	(Likely) pathogenic	2 labs	7ecb328d83
3:58186727 DNASE1L3 C>T	3	58186727	58186727	C	T	DNASE1L3	c.543G>A	NM_004944.3	NP_004935.1:p.(Ala181=)	NC_000003.11:g.58186727C>T	(Likely) benign	2 labs	7ed208de59
X:44919396 KDM6A C>A	X	44919396	44919396	C	A	KDM6A	c.1324C>A	NM_001291415.1	NP_001278344.1:p.(Gln442Lys)	NC_000023.10:g.44919396C>A	VUS	2 labs	7ed3e9f0d6
2:234235804 SAG C>A	2	234235804	234235804	C	A	SAG	c.473C>A	NM_000541.5	NP_000532.2:p.(Thr158Lys)	NC_000002.11:g.234235804C>A	VUS	2 labs	7ecd80598b
X:31986499 DMD G>A	X	31986499	31986499	G	A	DMD	c.6571C>T	NM_004006.3	NP_003997.2:p.(Arg2191Trp)	NC_000023.10:g.31986499G>A	(Likely) benign	2 labs	7edc78bd2b
6:401464 IRF4 C>T	6	401464	401464	C	T	IRF4	c.786C>T	NM_002460.3	NP_002451.2:p.(Leu262=)	NC_000006.11:g.401464C>T	(Likely) benign	2 labs	7eda0d1bd2
14:23858266 MYH6 T>G	14	23858266	23858266	T	G	MYH6	c.3979-2A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858266T>G	VUS	2 labs	7ee43137c1
18:34298151 FHOD3 G>T	18	34298151	34298151	G	T	FHOD3	c.2365G>T	NM_025135.5	NP_079411.2:p.(Val789Phe)	NC_000018.9:g.34298151G>T	(Likely) benign	3 labs	7ee5377bee
2:179414177 TTN G>A	2	179414177	179414177	G	A	TTN	c.92176C>T	NM_001267550.2	NP_001254479.2:p.(Pro30726Ser)	NC_000002.11:g.179414177G>A	(Likely) benign	6 labs	7eeb3a5ece
7:6045627 PMS2 C>T	7	6045627	6045627	C	T	PMS2	c.59G>A	NM_000535.7	NP_000526.2:p.(Arg20Gln)	NC_000007.13:g.6045627C>T	(Likely) benign	5 labs	7ef47ad116
7:75609677 POR A>G	7	75609677	75609677	A	G	POR	c.387A>G	NM_001382658.1	NP_001369587.1:p.(Pro129=)	NC_000007.13:g.75609677A>G	(Likely) benign	2 labs	f9bd6201bd
17:76435298 DNAH17 T>C	17	76435298	76435298	T	C	DNAH17	c.11679A>G	NM_173628.3	NP_775899.3:p.(Gly3893=)	NC_000017.10:g.76435298T>C	(Likely) benign	2 labs	7ef9bfbec7
2:47202157 TTC7A G>A	2	47202157	47202157	G	A	TTC7A	c.563G>A	NM_001288951.1	NP_001275880.1:p.(Arg188His)	NC_000002.11:g.47202157G>A	(Likely) benign	2 labs	7f05fae43b
12:133249243 POLE G>A	12	133249243	133249243	G	A	POLE	c.1656C>T	NM_006231.3	NP_006222.2:p.(Phe552=)	NC_000012.11:g.133249243G>A	(Likely) benign	3 labs	7f0a8001b5
X:66765158 AR T>TGCAGCAGCAGCAGCAGCA	X	66765158	66765227	T	TGCAGCAGCAGCAGCAGCA	AR	c.222_239dup	NM_000044.4	NP_000035.2:p.(Gln75_Gln80dup)	NC_000023.10:g.66765210_66765227dup	(Likely) benign	2 labs	7f0f8f5497
11:4045100 STIM1 C>T	11	4045100	4045100	C	T	STIM1	c.271-3C>T	NM_001277961.1	NP_001264890.1:p.?	NC_000011.9:g.4045100C>T	(Likely) benign	2 labs	7f11754a61
4:6304185 WFS1 C>T	4	6304185	6304185	C	T	WFS1	c.2663C>T	NM_006005.3	NP_005996.2:p.(Ser888Leu)	NC_000004.11:g.6304185C>T	VUS	2 labs	7f1794644c
9:75387452 TMC1 T>A	9	75387452	75387452	T	A	TMC1	c.865T>A	NM_138691.2	NP_619636.2:p.(Phe289Ile)	NC_000009.11:g.75387452T>A	(Likely) pathogenic	2 labs	7f1baffc76
13:32915148 BRCA2 C>G	13	32915148	32915148	C	G	BRCA2	c.6656C>G	NM_000059.4	NP_000050.3:p.(Ser2219Ter)	NC_000013.10:g.32915148C>G	(Likely) pathogenic	2 labs	f9cc6918c8
8:10467285 RP1L1 C>T	8	10467285	10467285	C	T	RP1L1	c.4323G>A	NM_178857.6	NP_849188.4:p.(Pro1441=)	NC_000008.10:g.10467285C>T	(Likely) benign	2 labs	7f1ef8b32e
13:51519601 RNASEH2B G>A	13	51519601	51519601	G	A	RNASEH2B	c.549G>A	NM_001142279.2	NP_001135751.1:p.(Val183=)	NC_000013.10:g.51519601G>A	(Likely) benign	2 labs	7f22905e7d
11:76873384 MYO7A G>A	11	76873384	76873384	G	A	MYO7A	c.1554+8G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76873384G>A	(Likely) benign	2 labs	7f24c4d455
5:176707724 NSD1 C>G	5	176707724	176707724	C	G	NSD1	c.5781C>G	NM_022455.4	NP_071900.2:p.(Ala1927=)	NC_000005.9:g.176707724C>G	(Likely) benign	2 labs	7f37c5bb6f
16:1639793 IFT140 C>G	16	1639793	1639793	C	G	IFT140	c.635-12G>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1639793C>G	(Likely) benign	2 labs	7f41f94138
4:15591284 CC2D2A T>C	4	15591284	15591284	T	C	CC2D2A	c.4296T>C	NM_001080522.2	NP_001073991.2:p.(Cys1432=)	NC_000004.11:g.15591284T>C	(Likely) benign	2 labs	7f3a225e35
22:21213380 SNAP29 C>T	22	21213380	21213380	C	T	SNAP29	c.-19C>T	NM_004782.4	NP_004773.1:p.?	NC_000022.10:g.21213380C>T	(Likely) benign	2 labs	7f478675f3
8:61736498 CHD7 T>C	8	61736498	61736498	T	C	CHD7	c.3301T>C	NM_017780.4	NP_060250.2:p.(Cys1101Arg)	NC_000008.10:g.61736498T>C	(Likely) pathogenic	3 labs	7f4c4984d6
1:216592003 USH2A T>C	1	216592003	216592003	T	C	USH2A	c.504A>G	NM_206933.4	NP_996816.3:p.(Thr168=)	NC_000001.10:g.216592003T>C	(Likely) benign	2 labs	f9d44bfc48
8:41561886 ANK1 C>T	8	41561886	41561886	C	T	ANK1	c.2295+6G>A	NM_001142446.1	NP_001135918.1:p.?	NC_000008.10:g.41561886C>T	(Likely) benign	2 labs	7f5b010cbf
X:119589270 LAMP2 G>A	X	119589270	119589270	G	A	LAMP2	c.339C>T	NM_002294.3	NP_002285.1:p.(Ser113=)	NC_000023.10:g.119589270G>A	(Likely) benign	5 labs	f9d49b907e
15:85186705 WDR73 CG>C	15	85186705	85186711	CG	C	WDR73	c.1132del	NM_032856.5	NP_116245.2:p.(Arg378AlafsTer25)	NC_000015.9:g.85186711del	VUS	3 labs	7f664ef928
11:65983585 PACS1 C>G	11	65983585	65983585	C	G	PACS1	c.661-5C>G	NM_018026.3	NP_060496.2:p.?	NC_000011.9:g.65983585C>G	(Likely) benign	2 labs	7f61ef25bb
3:38628879 SCN5A C>T	3	38628879	38628879	C	T	SCN5A	c.2436+12G>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38628879C>T	(Likely) benign	5 labs	7f6f5ab73c
2:145157274 ZEB2 G>A	2	145157274	145157274	G	A	ZEB2	c.1480C>T	NM_014795.3	NP_055610.1:p.(Pro494Ser)	NC_000002.11:g.145157274G>A	(Likely) benign	3 labs	7f7a0f75f4
19:4817657 TICAM1 C>T	19	4817657	4817657	C	T	TICAM1	c.733G>A	NM_182919.3	NP_891549.1:p.(Gly245Ser)	NC_000019.9:g.4817657C>T	(Likely) benign	2 labs	7f7d406f64
7:21611415 DNAH11 T>C	7	21611415	21611415	T	C	DNAH11				NC_000007.13:g.21611415T>C	(Likely) benign	2 labs	7f8ae24d59
10:55626625 PCDH15 G>A	10	55626625	55626625	G	A	PCDH15	c.3517-8C>T	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55626625G>A	(Likely) benign	2 labs	7f917aed06
X:153594728 FLNA C>T	X	153594728	153594728	C	T	FLNA	c.1176G>A	NM_001110556.2	NP_001104026.1:p.(Glu392=)	NC_000023.10:g.153594728C>T	(Likely) benign	2 labs	7f95006831
6:157099782 ARID1B C>G	6	157099782	157099782	C	G	ARID1B	c.719C>G	NM_020732.3	NP_065783.3:p.(Ala240Gly)	NC_000006.11:g.157099782C>G	(Likely) benign	2 labs	7fa4e5c7b9
7:91830719 KRIT1 TA>T	7	91830719	91830721	TA	T	KRIT1	c.2043del	NM_194454.3	NP_919436.1:p.(Lys682SerfsTer25)	NC_000007.13:g.91830721del	(Likely) pathogenic	2 labs	7faa8cbf00
X:47488993 CFP C>T	X	47488993	47488993	C	T	CFP	c.157G>A	NM_002621.2	NP_002612.1:p.(Val53Met)	NC_000023.10:g.47488993C>T	(Likely) benign	3 labs	7fafa416dc
2:202074167 CASP10 G>A	2	202074167	202074167	G	A	CASP10	c.1297G>A	NM_032977.4	NP_116759.2:p.(Glu433Lys)	NC_000002.11:g.202074167G>A	(Likely) benign	2 labs	7fb1763ccd
3:184071129 CLCN2 C>T	3	184071129	184071129	C	T	CLCN2	c.1937G>A	NM_004366.5	NP_004357.3:p.(Arg646Gln)	NC_000003.11:g.184071129C>T	(Likely) benign	3 labs	7fb30d32bb
19:15291834 NOTCH3 T>G	19	15291834	15291834	T	G	NOTCH3	c.2932A>C	NM_000435.2	NP_000426.2:p.(Ser978Arg)	NC_000019.9:g.15291834T>G	(Likely) benign	2 labs	7fb3c6f1dd
X:119293047 RHOXF2 A>C	X	119293047	119293047	A	C	RHOXF2	c.206A>C	NM_032498.2	NP_115887.1:p.(Glu69Ala)	NC_000023.10:g.119293047A>C	VUS	2 labs	7fb4f6668a
11:6411935 SMPD1 T>TGGCGCTGGC	11	6411935	6411937	T	TGGCGCTGGC	SMPD1	c.108_109insGCGCTGGCG	NM_001318087.2	NP_001305016.1:p.(Val36_Leu37insAlaLeuAla)	NC_000011.9:g.6411936_6411937insGCGCTGGCG	(Likely) benign	4 labs	7fbd2ec781
1:197396689 CRB1 C>T	1	197396689	197396689	C	T	CRB1	c.2234C>T	NM_201253.3	NP_957705.1:p.(Thr745Met)	NC_000001.10:g.197396689C>T	(Likely) pathogenic	4 labs	7fc60f0103
9:14792751 FREM1 A>C	9	14792751	14792751	A	C	FREM1	c.3971T>G	NM_144966.5	NP_659403.4:p.(Leu1324Arg)	NC_000009.11:g.14792751A>C	VUS	3 labs	7fcd602049
17:41276080 BRCA1 G>T	17	41276080	41276080	G	T	BRCA1	c.34C>A	NM_007294.4	NP_009225.1:p.(Gln12Lys)	NC_000017.10:g.41276080G>T	VUS	3 labs	7fcf5daa3c
9:77448950 TRPM6 A>G	9	77448950	77448950	A	G	TRPM6	c.633T>C	NM_017662.4	NP_060132.3:p.(Gly211=)	NC_000009.11:g.77448950A>G	(Likely) benign	2 labs	7fd0eed1cc
3:48508540 TREX1 G>A	3	48508540	48508540	G	A	TREX1	c.456G>A	NM_007248.4	NP_009179.2:p.(Leu152=)	NC_000003.11:g.48508540G>A	(Likely) benign	2 labs	7fe173f8b8
2:241696915 KIF1A G>A	2	241696915	241696915	G	A	KIF1A	c.2679C>T	NM_001244008.2	NP_001230937.1:p.(Pro893=)	NC_000002.11:g.241696915G>A	(Likely) benign	2 labs	7fd9473d5e
19:12769064 MAN2B1 C>T	19	12769064	12769064	C	T	MAN2B1	c.1204G>A	NM_000528.3	NP_000519.2:p.(Glu402Lys)	NC_000019.9:g.12769064C>T	VUS	2 labs	7ff25625a9
9:35094206 PIGO T>G	9	35094206	35094206	T	G	PIGO	c.655+7A>C	NM_032634.3	NP_116023.2:p.?	NC_000009.11:g.35094206T>G	(Likely) benign	2 labs	7ff8da1d98
X:153696765 PLXNA3 C>T	X	153696765	153696765	C	T	PLXNA3	c.4083C>T	NM_017514.4	NP_059984.3:p.(Arg1361=)	NC_000023.10:g.153696765C>T	(Likely) benign	2 labs	7ff9b83511
14:75506696 MLH3 C>T	14	75506696	75506696	C	T	MLH3	c.3488G>A	NM_001040108.1	NP_001035197.1:p.(Gly1163Asp)	NC_000014.8:g.75506696C>T	(Likely) benign	2 labs	80010ad577
11:46889546 LRP4 C>T	11	46889546	46889546	C	T	LRP4	c.5071G>A	NM_002334.3	NP_002325.2:p.(Glu1691Lys)	NC_000011.9:g.46889546C>T	VUS	2 labs	80051f765c
21:46912609 COL18A1 G>A	21	46912609	46912609	G	A	COL18A1	c.2196G>A	NM_130445.2	NP_569712.2:p.(Pro732=)	NC_000021.8:g.46912609G>A	(Likely) benign	2 labs	8006e64e8c
X:123022464 XIAP C>T	X	123022464	123022464	C	T	XIAP	c.878-5C>T	NM_001167.4	NP_001158.2:p.?	NC_000023.10:g.123022464C>T	(Likely) benign	2 labs	80122e7504
20:57429141 GNAS C>T	20	57429141	57429141	C	T	GNAS	c.634C>T	NM_001077490.2	NP_001070958.1:p.(Pro212Ser)	NC_000020.10:g.57429141C>T	VUS	2 labs	800b20ddd9
2:166895938 SCN1A G>A	2	166895938	166895938	G	A	SCN1A	c.2584C>T	NM_001165963.4	NP_001159435.1:p.(Arg862Ter)	NC_000002.11:g.166895938G>A	(Likely) pathogenic	2 labs	f9ea72f02b
14:23894969 MYH7 C>G	14	23894969	23894969	C	G	MYH7	c.2221G>C	NM_000257.2	NP_000248.2:p.(Gly741Arg)	NC_000014.8:g.23894969C>G	(Likely) pathogenic	2 labs	8014d1de18
15:66996307 SMAD6 C>T	15	66996307	66996307	C	T	SMAD6	c.711C>T	NM_005585.4	NP_005576.3:p.(His237=)	NC_000015.9:g.66996307C>T	(Likely) benign	3 labs	8014f78b11
19:33465034 FAAP24 A>G	19	33465034	33465034	A	G	FAAP24	c.312A>G	NM_152266.4	NP_689479.1:p.(Leu104=)	NC_000019.9:g.33465034A>G	(Likely) benign	2 labs	80157bb4d9
13:77566090 CLN5 C>T	13	77566090	77566090	C	T	CLN5				NC_000013.10:g.77566090C>T	(Likely) benign	4 labs	8013ee3a42
4:187627818 FAT1 G>A	4	187627818	187627818	G	A	FAT1	c.3164C>T	NM_005245.3	NP_005236.2:p.(Thr1055Met)	NC_000004.11:g.187627818G>A	(Likely) benign	2 labs	8025b3a454
17:7574012 TP53 C>T	17	7574012	7574012	C	T	TP53	c.898G>A	NM_001126118.1	NP_001119590.1:p.(Glu300Lys)	NC_000017.10:g.7574012C>T	VUS	2 labs	802d2175cf
19:38781218 SPINT2 A>G	19	38781218	38781218	A	G	SPINT2	c.592+3A>G	NM_021102.3	NP_066925.1:p.?	NC_000019.9:g.38781218A>G	(Likely) benign	2 labs	80346e162d
2:215657119 BARD1 G>A	2	215657119	215657119	G	A	BARD1	c.266C>T	NM_000465.4	NP_000456.2:p.(Pro89Leu)	NC_000002.11:g.215657119G>A	VUS	4 labs	f9ef9d980e
17:13980350 COX10 G>A	17	13980350	13980350	G	A	COX10	c.476G>A	NM_001303.4	NP_001294.2:p.(Arg159Gln)	NC_000017.10:g.13980350G>A	(Likely) benign	2 labs	f9f22d2a77
19:15290006 NOTCH3 A>G	19	15290006	15290006	A	G	NOTCH3	c.3548T>C	NM_000435.2	NP_000426.2:p.(Val1183Ala)	NC_000019.9:g.15290006A>G	VUS	2 labs	803e98b697
17:72915673 USH1G G>C	17	72915673	72915673	G	C	USH1G	c.1258C>G	NM_173477.4	NP_775748.2:p.(Leu420Val)	NC_000017.10:g.72915673G>C	VUS	2 labs	804348395c
2:44047237 ABCG5 G>A	2	44047237	44047237	G	A	ABCG5	c.1466C>T	NM_022436.3	NP_071881.1:p.(Thr489Met)	NC_000002.11:g.44047237G>A	VUS	2 labs	f9f9405cde
2:73679661 ALMS1 A>G	2	73679661	73679661	A	G	ALMS1	c.6010A>G	NM_015120.4	NP_055935.4:p.(Ile2004Val)	NC_000002.11:g.73679661A>G	(Likely) benign	4 labs	8044845d1e
16:49670325 ZNF423 G>A	16	49670325	49670325	G	A	ZNF423	c.2558C>T	NM_001271620.2	NP_001258549.1:p.(Pro853Leu)	NC_000016.9:g.49670325G>A	VUS	2 labs	804cc09dcb
6:152540278 SYNE1 A>C	6	152540278	152540278	A	C	SYNE1	c.21904T>G	NM_182961.4	NP_892006.3:p.(Phe7302Val)	NC_000006.11:g.152540278A>C	(Likely) benign	4 labs	8054aa19d2
3:180377529 CCDC39 G>C	3	180377529	180377529	G	C	CCDC39	c.545C>G	NM_181426.2	NP_852091.1:p.(Thr182Ser)	NC_000003.11:g.180377529G>C	(Likely) benign	2 labs	8056eec45b
22:29092945 CHEK2 C>T	22	29092945	29092945	C	T	CHEK2	c.1039G>A	NM_007194.4	NP_009125.1:p.(Asp347Asn)	NC_000022.10:g.29092945C>T	(Likely) pathogenic	4 labs	805add7901
18:2954584 LPIN2 A>G	18	2954584	2954584	A	G	LPIN2	c.206T>C	NM_014646.2	NP_055461.1:p.(Ile69Thr)	NC_000018.9:g.2954584A>G	VUS	2 labs	805eaa5a42
1:103431058 COL11A1 T>G	1	103431058	103431058	T	G	COL11A1	c.2937A>C	NM_080629.3	NP_542196.2:p.(Gly979=)	NC_000001.10:g.103431058T>G	(Likely) benign	2 labs	805b42d951
11:6637264 TPP1 G>C	11	6637264	6637264	G	C	TPP1	c.1117C>G	NM_000391.3	NP_000382.3:p.(Gln373Glu)	NC_000011.9:g.6637264G>C	(Likely) benign	2 labs	80753646f4
3:46003735 FYCO1 C>T	3	46003735	46003735	C	T	FYCO1	c.3419G>A	NM_024513.3	NP_078789.2:p.(Arg1140Gln)	NC_000003.11:g.46003735C>T	(Likely) benign	2 labs	807600305b
4:995665 IDUA G>A	4	995665	995665	G	A	IDUA	c.788G>A	NM_000203.5	NP_000194.2:p.(Arg263Lys)	NC_000004.11:g.995665G>A	(Likely) benign	2 labs	807b4bc3cd
16:88494976 ZNF469 A>C	16	88494976	88494976	A	C	ZNF469	c.1098A>C	NM_001367624.2	NP_001354553.1:p.(Arg366Ser)	NC_000016.9:g.88494976A>C	(Likely) benign	3 labs	f9ffabc915
2:170042495 LRP2 G>A	2	170042495	170042495	G	A	LRP2	c.9363C>T	NM_004525.3	NP_004516.2:p.(Gly3121=)	NC_000002.11:g.170042495G>A	(Likely) benign	2 labs	8085fa8066
10:71129333 HK1 G>A	10	71129333	71129333	G	A	HK1	c.792G>A	NM_033500.2	NP_277035.2:p.(Glu264=)	NC_000010.10:g.71129333G>A	(Likely) benign	3 labs	808eeb0bc6
12:106838243 POLR3B A>T	12	106838243	106838243	A	T	POLR3B	c.1958A>T	NM_018082.5	NP_060552.4:p.(Asp653Val)	NC_000012.11:g.106838243A>T	(Likely) benign	2 labs	8094a19d6c
X:153296824 MECP2 G>C	X	153296824	153296824	G	C	MECP2	c.455C>G	NM_004992.3	NP_004983.1:p.(Pro152Arg)	NC_000023.10:g.153296824G>C	(Likely) pathogenic	2 labs	809ac26ad2
13:32910737 BRCA2 A>G	13	32910737	32910737	A	G	BRCA2	c.2245A>G	NM_000059.3	NP_000050.2:p.(Ser749Gly)	NC_000013.10:g.32910737A>G	(Likely) benign	2 labs	809fc9294d
16:3640853 SLX4 G>A	16	3640853	3640853	G	A	SLX4	c.2786C>T	NM_032444.2	NP_115820.2:p.(Pro929Leu)	NC_000016.9:g.3640853G>A	(Likely) benign	2 labs	80a2038383
19:6713228 C3 G>A	19	6713228	6713228	G	A	C3	c.975C>T	NM_000064.2	NP_000055.2:p.(Tyr325=)	NC_000019.9:g.6713228G>A	(Likely) benign	2 labs	80a3fb2f45
2:29543663 ALK T>C	2	29543663	29543663	T	C	ALK	c.1500A>G	NM_004304.5	NP_004295.2:p.(Gln500=)	NC_000002.11:g.29543663T>C	(Likely) benign	2 labs	80ae25c1d2
20:47887168 ZNFX1 C>T	20	47887168	47887168	C	T	ZNFX1	c.1181G>A	NM_021035.3	NP_066363.1:p.(Ser394Asn)	NC_000020.10:g.47887168C>T	(Likely) benign	2 labs	fa04812688
17:29654751 NF1 C>T	17	29654751	29654751	C	T	NF1	c.5440C>T	NM_000267.3	NP_000258.1:p.(Gln1814Ter)	NC_000017.10:g.29654751C>T	(Likely) pathogenic	2 labs	80b398e980
3:49161313 LAMB2 C>T	3	49161313	49161313	C	T	LAMB2	c.3645G>A	NM_002292.3	NP_002283.3:p.(Ala1215=)	NC_000003.11:g.49161313C>T	(Likely) benign	2 labs	80b46a5088
X:102193021 RAB40AL A>G	X	102193021	102193021	A	G	RAB40AL	c.775A>G	NM_001031834.1	NP_001027004.1:p.(Ile259Val)	NC_000023.10:g.102193021A>G	(Likely) benign	2 labs	80b76e9542
X:31792296 DMD A>G	X	31792296	31792296	A	G	DMD	c.6954T>C	NM_004010.3	NP_004001.1:p.(Thr2318=)	NC_000023.10:g.31792296A>G	(Likely) benign	2 labs	80be650fd5
2:48023115 MSH6 T>C	2	48023115	48023115	T	C	MSH6	c.540T>C	NM_000179.3	NP_000170.1:p.(Asp180=)	NC_000002.11:g.48023115T>C	(Likely) benign	4 labs	fa0a294778
22:17669306 ADA2 T>C	22	17669306	17669306	T	C	ADA2	c.1004A>G	NM_001282225.2	NP_001269154.1:p.(His335Arg)	NC_000022.10:g.17669306T>C	(Likely) benign	3 labs	fa0d7f43ce
18:21115459 NPC1 C>T	18	21115459	21115459	C	T	NPC1	c.3451G>A	NM_000271.5	NP_000262.2:p.(Ala1151Thr)	NC_000018.9:g.21115459C>T	(Likely) pathogenic	3 labs	80db90e460
6:152674765 SYNE1 G>A	6	152674765	152674765	G	A	SYNE1	c.11041C>T	NM_182961.3	NP_892006.3:p.(Gln3681Ter)	NC_000006.11:g.152674765G>A	(Likely) pathogenic	2 labs	80d8354996
2:73680794 ALMS1 A>G	2	73680794	73680794	A	G	ALMS1	c.7143A>G	NM_015120.4	NP_055935.4:p.(Gln2381=)	NC_000002.11:g.73680794A>G	(Likely) benign	2 labs	80d6489d16
12:103288604 PAH G>T	12	103288604	103288604	G	T	PAH	c.261C>A	NM_000277.3	NP_000268.1:p.(Ser87Arg)	NC_000012.11:g.103288604G>T	(Likely) pathogenic	2 labs	80eb208cab
20:49510826 ADNP G>GTGC	20	49510826	49510831	G	GTGC	ADNP	c.422_424dup	NM_001282531.3	NP_001269460.1:p.(Ser141dup)	NC_000020.10:g.49510829_49510831dup	(Likely) benign	2 labs	fa0fe7a19b
9:14819319 FREM1 G>A	9	14819319	14819319	G	A	FREM1	c.2459C>T	NM_144966.5	NP_659403.4:p.(Pro820Leu)	NC_000009.11:g.14819319G>A	VUS	2 labs	80e897f63b
12:9010686 A2ML1 C>T	12	9010686	9010686	C	T	A2ML1	c.3252C>T	NM_144670.6	NP_653271.3:p.(His1084=)	NC_000012.11:g.9010686C>T	(Likely) benign	3 labs	80e33b4f62
12:109539810 UNG G>A	12	109539810	109539810	G	A	UNG	c.506+6G>A	NM_003362.3	NP_003353.1:p.?	NC_000012.11:g.109539810G>A	(Likely) benign	2 labs	80f3e00765
8:145700267 FOXH1 C>T	8	145700267	145700267	C	T	FOXH1	c.452G>A	NM_003923.2	NP_003914.1:p.(Gly151Asp)	NC_000008.10:g.145700267C>T	VUS	2 labs	80f4ba0c58
2:167133481 SCN9A C>A	2	167133481	167133481	C	A	SCN9A	c.2841+12G>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133481C>A	(Likely) benign	2 labs	fa119e0a3d
19:49469114 FTL G>A	19	49469114	49469114	G	A	FTL	c.190G>A	NM_000146.3	NP_000137.2:p.(Glu64Lys)	NC_000019.9:g.49469114G>A	(Likely) benign	2 labs	81086a9fba
13:51517475 RNASEH2B A>G	13	51517475	51517475	A	G	RNASEH2B	c.455A>G	NM_001142279.2	NP_001135751.1:p.(Asn152Ser)	NC_000013.10:g.51517475A>G	(Likely) benign	3 labs	810aea972b
16:2121911 TSC2 C>T	16	2121911	2121911	C	T	TSC2	c.2073C>T	NM_000548.3	NP_000539.2:p.(Arg691=)	NC_000016.9:g.2121911C>T	(Likely) benign	2 labs	8121930abd
9:14805066 FREM1 T>A	9	14805066	14805066	T	A	FREM1	c.3359A>T	NM_144966.5	NP_659403.4:p.(Gln1120Leu)	NC_000009.11:g.14805066T>A	(Likely) benign	3 labs	8122cfe543
5:90002220 ADGRV1 C>CT	5	90002220	90002232	C	CT	ADGRV1	c.8730+21dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002232dup	(Likely) benign	2 labs	811d5ffa55
11:78239937 NARS2 G>T	11	78239937	78239937	G	T	NARS2	c.640C>A	NM_024678.6	NP_078954.4:p.(Pro214Thr)	NC_000011.9:g.78239937G>T	VUS	2 labs	81312cd0da
6:65301787 EYS G>C	6	65301787	65301787	G	C	EYS	c.3973C>G	NM_001142800.1	NP_001136272.1:p.(Gln1325Glu)	NC_000006.11:g.65301787G>C	(Likely) benign	2 labs	81324ee118
6:7581196 DSP G>A	6	7581196	7581196	G	A	DSP	c.4773G>A	NM_004415.4	NP_004406.2:p.(Arg1591=)	NC_000006.11:g.7581196G>A	(Likely) benign	6 labs	8133de550b
19:17942516 JAK3 G>A	19	17942516	17942516	G	A	JAK3	c.2772C>T	NM_000215.3	NP_000206.2:p.(Ser924=)	NC_000019.9:g.17942516G>A	(Likely) benign	2 labs	81342adbdf
2:228175508 COL4A3 C>T	2	228175508	228175508	C	T	COL4A3	c.4772C>T	NM_000091.5	NP_000082.2:p.(Ser1591Phe)	NC_000002.11:g.228175508C>T	VUS	3 labs	fa21ceb583
16:67681444 CARMIL2 G>A	16	67681444	67681444	G	A	CARMIL2	c.810G>A	NM_001013838.2	NP_001013860.1:p.(Ala270=)	NC_000016.9:g.67681444G>A	(Likely) benign	2 labs	8138cd920a
13:36909607 SPART C>A	13	36909607	36909607	C	A	SPART	c.361G>T	NM_015087.5	NP_055902.1:p.(Asp121Tyr)	NC_000013.10:g.36909607C>A	(Likely) benign	3 labs	8140cc4333
7:82582956 PCLO A>G	7	82582956	82582956	A	G	PCLO	c.7313T>C	NM_033026.5	NP_149015.2:p.(Leu2438Pro)	NC_000007.13:g.82582956A>G	(Likely) benign	2 labs	813d785b54
9:135147182 SETX C>T	9	135147182	135147182	C	T	SETX	c.7114G>A	NM_015046.7	NP_055861.3:p.(Asp2372Asn)	NC_000009.11:g.135147182C>T	(Likely) benign	3 labs	fa2404ea9e
21:47744202 PCNT C>T	21	47744202	47744202	C	T	PCNT	c.54+6C>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47744202C>T	(Likely) benign	2 labs	814efc6e9d
17:73518284 TSEN54 G>C	17	73518284	73518284	G	C	TSEN54	c.1122G>C	NM_207346.3	NP_997229.2:p.(Arg374=)	NC_000017.10:g.73518284G>C	(Likely) benign	4 labs	fa2fa9b62b
14:99724180 BCL11B G>C	14	99724180	99724180	G	C	BCL11B	c.59-4C>G	NM_138576.3	NP_612808.1:p.?	NC_000014.8:g.99724180G>C	(Likely) benign	2 labs	815227102c
17:36093638 HNF1B C>T	17	36093638	36093638	C	T	HNF1B	c.721G>A	NM_000458.3	NP_000449.1:p.(Ala241Thr)	NC_000017.10:g.36093638C>T	VUS	2 labs	8154a7af29
11:76913410 MYO7A G>A	11	76913410	76913410	G	A	MYO7A	c.5109G>A	NM_000260.4	NP_000251.3:p.(Ala1703=)	NC_000011.9:g.76913410G>A	(Likely) benign	2 labs	8150d8f9bc
2:179393396 TTN C>T	2	179393396	179393396	C	T	TTN	c.107082G>A	NM_001267550.2	NP_001254479.2:p.(Leu35694=)	NC_000002.11:g.179393396C>T	(Likely) benign	2 labs	815a0fe334
7:1525057 INTS1 TCTC>T	7	1525057	1525064	TCTC	T	INTS1	c.3022_3024del	NM_001080453.3	NP_001073922.2:p.(Glu1008del)	NC_000007.13:g.1525062_1525064del	VUS	2 labs	816167ef5f
8:100286506 VPS13B G>A	8	100286506	100286506	G	A	VPS13B	c.2596G>A	NM_017890.4	NP_060360.3:p.(Val866Ile)	NC_000008.10:g.100286506G>A	VUS	2 labs	8164a066c3
11:117267274 CEP164 C>T	11	117267274	117267274	C	T	CEP164	c.3225C>T	NM_014956.4	NP_055771.4:p.(Thr1075=)	NC_000011.9:g.117267274C>T	(Likely) benign	2 labs	816656339b
18:28935073 DSG1 G>A	18	28935073	28935073	G	A	DSG1	c.2914G>A	NM_001942.3	NP_001933.2:p.(Gly972Ser)	NC_000018.9:g.28935073G>A	(Likely) benign	2 labs	8166635576
15:73009158 BBS4 T>C	15	73009158	73009158	T	C	BBS4	c.372T>C	NM_033028.5	NP_149017.2:p.(Tyr124=)	NC_000015.9:g.73009158T>C	(Likely) benign	2 labs	8169ed98c9
X:70674016 TAF1 A>G	X	70674016	70674016	A	G	TAF1	c.4754-4A>G	NM_001286074.2	NP_001273003.2:p.?	NC_000023.10:g.70674016A>G	(Likely) benign	3 labs	8179d3f7ae
18:19418308 MIB1 T>C	18	19418308	19418308	T	C	MIB1	c.1830-18T>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19418308T>C	(Likely) benign	5 labs	fa32d5047a
2:228560807 SLC19A3 A>G	2	228560807	228560807	A	G	SLC19A3	c.980-10T>C	NM_025243.3	NP_079519.1:p.?	NC_000002.11:g.228560807A>G	(Likely) benign	2 labs	817acb924d
2:110922703 NPHP1 C>T	2	110922703	110922703	C	T	NPHP1	c.654G>A	NM_000272.5	NP_000263.2:p.(Glu218=)	NC_000002.11:g.110922703C>T	(Likely) benign	4 labs	8180aa8b7f
2:179463490 TTN C>T	2	179463490	179463490	C	T	TTN	c.56947G>A	NM_001267550.2	NP_001254479.2:p.(Ala18983Thr)	NC_000002.11:g.179463490C>T	VUS	3 labs	fa36892718
6:152563570 SYNE1 C>A	6	152563570	152563570	C	A	SYNE1	c.19485G>T	NM_033071.4	NP_149062.2:p.(Met6495Ile)	NC_000006.11:g.152563570C>A	(Likely) benign	3 labs	81828da708
10:17145184 CUBN C>T	10	17145184	17145184	C	T	CUBN	c.1470G>A	NM_001081.4	NP_001072.2:p.(Pro490=)	NC_000010.10:g.17145184C>T	(Likely) benign	3 labs	81832ea32e
1:27120964 PIGV C>T	1	27120964	27120964	C	T	PIGV	c.439C>T	NM_001202554.1	NP_001189483.1:p.(Gln147Ter)	NC_000001.10:g.27120964C>T	(Likely) pathogenic	3 labs	8187369e93
6:152722368 SYNE1 A>G	6	152722368	152722368	A	G	SYNE1	c.6934T>C	NM_182961.3	NP_892006.3:p.(Phe2312Leu)	NC_000006.11:g.152722368A>G	(Likely) benign	3 labs	818a5e31c9
X:100608337 BTK C>T	X	100608337	100608337	C	T	BTK	c.1855G>A	NM_001287344.1	NP_001274273.1:p.(Val619Ile)	NC_000023.10:g.100608337C>T	VUS	2 labs	818aa7c93c
1:9782302 PIK3CD C>T	1	9782302	9782302	C	T	PIK3CD	c.2235C>T	NM_005026.3	NP_005017.3:p.(Cys745=)	NC_000001.10:g.9782302C>T	(Likely) benign	2 labs	818b1b65b2
1:57422578 C8B C>T	1	57422578	57422578	C	T	C8B	c.99G>A	NM_001278543.1	NP_001265472.1:p.(Arg33=)	NC_000001.10:g.57422578C>T	(Likely) benign	2 labs	81a5dac338
6:158535875 SERAC1 C>CAG	6	158535875	158535879	C	CAG	SERAC1	c.1628_1629dup	NM_032861.4	NP_116250.3:p.(Val544LeufsTer43)	NC_000006.11:g.158535878_158535879dup	(Likely) pathogenic	2 labs	81a161ae41
21:46924451 COL18A1 G>A	21	46924451	46924451	G	A	COL18A1	c.2840G>A	NM_130445.2	NP_569712.2:p.(Arg947His)	NC_000021.8:g.46924451G>A	VUS	2 labs	81ab2377f8
14:77493749 IRF2BPL G>A	14	77493749	77493749	G	A	IRF2BPL	c.387C>T	NM_024496.4	NP_078772.1:p.(Asn129=)	NC_000014.8:g.77493749G>A	(Likely) benign	2 labs	81b4e1b627
1:116243868 CASQ2 A>G	1	116243868	116243868	A	G	CASQ2	c.1194T>C	NM_001232.4	NP_001223.2:p.(Asp398=)	NC_000001.10:g.116243868A>G	(Likely) benign	3 labs	81b0ba5285
3:132409355 NPHP3 T>C	3	132409355	132409355	T	C	NPHP3	c.2693+17A>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132409355T>C	(Likely) benign	3 labs	81b9a60f11
2:122288488 RNU4ATAC C>T	2	122288488	122288488	C	T	RNU4ATAC	n.33C>T	NR_023343.1		NC_000002.11:g.122288488C>T	VUS	2 labs	887ad09f2e
6:51524065 PKHD1 C>T	6	51524065	51524065	C	T	PKHD1	c.10859G>A	NM_138694.3	NP_619639.3:p.(Arg3620His)	NC_000006.11:g.51524065C>T	(Likely) benign	2 labs	81cf6d2018
5:89940652 ADGRV1 C>A	5	89940652	89940652	C	A	ADGRV1	c.2864C>A	NM_032119.4	NP_115495.3:p.(Ser955Ter)	NC_000005.9:g.89940652C>A	(Likely) pathogenic	2 labs	81d1974c89
2:234681170 UGT1A1 C>T	2	234681170	234681170	C	T	UGT1A1	c.1567C>T	NM_000463.2	NP_000454.1:p.(Arg523Ter)	NC_000002.11:g.234681170C>T	(Likely) pathogenic	2 labs	81d2f19f97
7:116339745 MET T>A	7	116339745	116339745	T	A	MET	c.607T>A	NM_001127500.1	NP_001120972.1:p.(Ser203Thr)	NC_000007.13:g.116339745T>A	(Likely) benign	2 labs	81d81189e9
9:130586583 ENG C>T	9	130586583	130586583	C	T	ENG	c.1134G>A	NM_000118.3	NP_000109.1:p.(Ala378=)	NC_000009.11:g.130586583C>T	(Likely) pathogenic	2 labs	fa5dc48ada
2:27676605 IFT172 T>G	2	27676605	27676605	T	G	IFT172	c.3713A>C	NM_015662.3	NP_056477.1:p.(Glu1238Ala)	NC_000002.11:g.27676605T>G	VUS	3 labs	81e22abd53
4:56236247 SRD5A3 TTTTTG>T	4	56236247	56236256	TTTTTG	T	SRD5A3	c.951_955del	NM_024592.5	NP_078868.1:p.(Phe318SerfsTer2)	NC_000004.11:g.56236252_56236256del	VUS	4 labs	81f5cc6f44
1:78392315 NEXN GT>G	1	78392315	78392319	GT	G	NEXN	c.687+23del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392319del	(Likely) benign	2 labs	81e794670b
16:2125937 TSC2 C>G	16	2125937	2125937	C	G	TSC2	c.2639+44C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125937C>G	(Likely) benign	2 labs	81fd3d1793
11:76916528 MYO7A G>A	11	76916528	76916528	G	A	MYO7A	c.5502G>A	NM_000260.3	NP_000251.3:p.(Trp1834Ter)	NC_000011.9:g.76916528G>A	(Likely) pathogenic	2 labs	81ff94eaf7
X:129148976 BCORL1 G>A	X	129148976	129148976	G	A	BCORL1	c.2228G>A	NM_021946.5	NP_068765.3:p.(Arg743His)	NC_000023.10:g.129148976G>A	VUS	2 labs	820398d06a
6:51890825 PKHD1 G>A	6	51890825	51890825	G	A	PKHD1	c.3783C>T	NM_138694.3	NP_619639.3:p.(Gly1261=)	NC_000006.11:g.51890825G>A	(Likely) benign	3 labs	82114541f6
17:78180852 CARD14 C>T	17	78180852	78180852	C	T	CARD14	c.2775C>T	NM_001366385.1	NP_001353314.1:p.(Val925=)	NC_000017.10:g.78180852C>T	(Likely) benign	2 labs	82252a9be5
1:152283753 FLG C>A	1	152283753	152283753	C	A	FLG	c.3609G>T	NM_002016.1	NP_002007.1:p.(Arg1203Ser)	NC_000001.10:g.152283753C>A	(Likely) benign	3 labs	822edab9f0
17:16852187 TNFRSF13B A>G	17	16852187	16852187	A	G	TNFRSF13B	c.310T>C	NM_012452.3	NP_036584.1:p.(Cys104Arg)	NC_000017.10:g.16852187A>G	(Likely) pathogenic	6 labs	fa60e2e678
4:6302383 WFS1 G>A	4	6302383	6302383	G	A	WFS1	c.862-1G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6302383G>A	(Likely) pathogenic	3 labs	823a767bf7
5:176639122 NSD1 G>C	5	176639122	176639122	G	C	NSD1	c.3722G>C	NM_022455.5	NP_071900.2:p.(Ser1241Thr)	NC_000005.9:g.176639122G>C	(Likely) benign	2 labs	8232c1fba3
2:179549048 TTN C>T	2	179549048	179549048	C	T	TTN	c.32722+9G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179549048C>T	(Likely) benign	5 labs	fa668931ca
2:109392302 RANBP2 A>G	2	109392302	109392302	A	G	RANBP2	c.8407A>G	NM_006267.4	NP_006258.3:p.(Ile2803Val)	NC_000002.11:g.109392302A>G	(Likely) benign	2 labs	823fae3b75
16:2136791 TSC2 CAAG>C	16	2136791	2136797	CAAG	C	TSC2	c.4912_4914del	NM_000548.5	NP_000539.2:p.(Lys1638del)	NC_000016.9:g.2136795_2136797del	(Likely) pathogenic	2 labs	8246719df5
15:44878032 SPG11 C>G	15	44878032	44878032	C	G	SPG11	c.4923G>C	NM_025137.4	NP_079413.3:p.(Lys1641Asn)	NC_000015.9:g.44878032C>G	(Likely) benign	3 labs	823fecf141
6:7583354 DSP C>G	6	7583354	7583354	C	G	DSP	c.5859C>G	NM_004415.2	NP_004406.2:p.(Thr1953=)	NC_000006.11:g.7583354C>G	(Likely) benign	2 labs	82564f511c
16:1252369 CACNA1H C>T	16	1252369	1252369	C	T	CACNA1H	c.1919C>T	NM_021098.3	NP_066921.2:p.(Pro640Leu)	NC_000016.9:g.1252369C>T	(Likely) benign	3 labs	fa7857f29d
10:55755407 PCDH15 A>G	10	55755407	55755407	A	G	PCDH15				NC_000010.10:g.55755407A>G	(Likely) pathogenic	2 labs	825e31208b
17:36047353 HNF1B C>T	17	36047353	36047353	C	T	HNF1B	c.1304G>A	NM_001304286.1	NP_001291215.1:p.(Arg435His)	NC_000017.10:g.36047353C>T	(Likely) benign	2 labs	8260f12fe4
3:180369283 CCDC39 G>A	3	180369283	180369283	G	A	CCDC39	c.1073C>T	NM_181426.2	NP_852091.1:p.(Thr358Ile)	NC_000003.11:g.180369283G>A	(Likely) benign	3 labs	826b5e69d8
11:6661352 DCHS1 C>T	11	6661352	6661352	C	T	DCHS1				NC_000011.9:g.6661352C>T	(Likely) benign	3 labs	8268ea59a4
19:11210979 LDLR G>T	19	11210979	11210979	G	T	LDLR	c.148G>T	NM_000527.5	NP_000518.1:p.(Ala50Ser)	NC_000019.9:g.11210979G>T	(Likely) benign	3 labs	fa7f3ed7eb
1:237711797 RYR2 A>G	1	237711797	237711797	A	G	RYR2	c.2973A>G	NM_001035.3	NP_001026.2:p.(Ser991=)	NC_000001.10:g.237711797A>G	(Likely) benign	3 labs	fa810b7d35
1:227170603 COQ8A C>T	1	227170603	227170603	C	T	COQ8A	c.948C>T	NM_020247.4	NP_064632.2:p.(Leu316=)	NC_000001.10:g.227170603C>T	(Likely) benign	2 labs	8278d3b1c2
2:113820155 IL36RN G>C	2	113820155	113820155	G	C	IL36RN	c.369G>C	NM_012275.3	NP_036407.1:p.(Thr123=)	NC_000002.11:g.113820155G>C	(Likely) benign	2 labs	827265afba
2:228563810 SLC19A3 T>C	2	228563810	228563810	T	C	SLC19A3	c.621A>G	NM_025243.4	NP_079519.1:p.(Ile207Met)	NC_000002.11:g.228563810T>C	(Likely) benign	3 labs	827f3d4fb7
15:51204295 AP4E1 G>A	15	51204295	51204295	G	A	AP4E1	c.171G>A	NM_007347.4	NP_031373.2:p.(Gln57=)	NC_000015.9:g.51204295G>A	(Likely) benign	2 labs	82809d5f01
19:11102008 SMARCA4 C>T	19	11102008	11102008	C	T	SMARCA4	c.1419+9C>T	NM_001128844.1	NP_001122316.1:p.?	NC_000019.9:g.11102008C>T	(Likely) benign	2 labs	82810084cd
12:102157979 GNPTAB C>T	12	102157979	102157979	C	T	GNPTAB	c.2715+1G>A	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102157979C>T	(Likely) pathogenic	2 labs	828230259c
17:42945647 EFTUD2 CTACTT>C	17	42945647	42945652	CTACTT	C	EFTUD2	c.1058+3_1058+7del	NM_001258353.2	NP_001245282.1:p.?	NC_000017.10:g.42945648_42945652del	(Likely) benign	3 labs	8288ba1fdd
14:23859253 MYH6 G>A	14	23859253	23859253	G	A	MYH6	c.3732+13C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23859253G>A	(Likely) benign	2 labs	82853e6594
11:45827874 SLC35C1 C>T	11	45827874	45827874	C	T	SLC35C1	c.522C>T	NM_018389.4	NP_060859.4:p.(Cys174=)	NC_000011.9:g.45827874C>T	(Likely) benign	2 labs	829161e87f
22:50962341 SCO2 A>C	22	50962341	50962341	A	C	SCO2	c.500T>G	NM_005138.3	NP_005129.2:p.(Val167Gly)	NC_000022.10:g.50962341A>C	VUS	3 labs	82948a5307
18:28649040 DSC2 G>C	18	28649040	28649040	G	C	DSC2	c.2328C>G	NM_004949.5	NP_004940.1:p.(Ile776Met)	NC_000018.9:g.28649040G>C	VUS	2 labs	8298929853
6:86256864 SNX14 G>A	6	86256864	86256864	G	A	SNX14	c.1074C>T	NM_153816.5	NP_722523.1:p.(Gly358=)	NC_000006.11:g.86256864G>A	(Likely) benign	2 labs	829ab165eb
X:152957566 SLC6A8 C>T	X	152957566	152957566	C	T	SLC6A8	c.777+4C>T	NM_005629.3	NP_005620.1:p.?	NC_000023.10:g.152957566C>T	(Likely) benign	2 labs	829ad3a10e
2:179436256 TTN ATTG>A	2	179436256	179436263	ATTG	A	TTN	c.74600_74602del	NM_001267550.2	NP_001254479.2:p.(Thr24867del)	NC_000002.11:g.179436261_179436263del	(Likely) benign	6 labs	829eaebef7
10:95372734 PDE6C G>T	10	95372734	95372734	G	T	PDE6C	c.252G>T	NM_006204.4	NP_006195.3:p.(Leu84=)	NC_000010.10:g.95372734G>T	(Likely) benign	2 labs	829fd3379f
15:89865979 POLG C>G	15	89865979	89865979	C	G	POLG	c.2420G>C	NM_002693.3	NP_002684.1:p.(Arg807Pro)	NC_000015.9:g.89865979C>G	(Likely) pathogenic	2 labs	82a9668c12
16:51174167 SALL1 T>C	16	51174167	51174167	T	C	SALL1	c.1675A>G	NM_001127892.1	NP_001121364.1:p.(Thr559Ala)	NC_000016.9:g.51174167T>C	(Likely) benign	2 labs	82aab18490
1:155271095 PKLR G>A	1	155271095	155271095	G	A	PKLR	c.92C>T	NM_000298.6	NP_000289.1:p.(Ala31Val)	NC_000001.10:g.155271095G>A	VUS	2 labs	82aed1a50f
11:6648137 DCHS1 G>A	11	6648137	6648137	G	A	DCHS1	c.6133C>T	NM_003737.4	NP_003728.1:p.(Arg2045Cys)	NC_000011.9:g.6648137G>A	VUS	2 labs	82b2c97ebf
2:29294264 PCARE C>T	2	29294264	29294264	C	T	PCARE	c.2864G>A	NM_001029883.3	NP_001025054.1:p.(Arg955Gln)	NC_000002.11:g.29294264C>T	(Likely) benign	2 labs	82b06a7c5c
X:53231108 KDM5C G>A	X	53231108	53231108	G	A	KDM5C	c.1794C>T	NM_004187.3	NP_004178.2:p.(Pro598=)	NC_000023.10:g.53231108G>A	(Likely) benign	2 labs	82b55b6407
17:80043506 FASN G>A	17	80043506	80043506	G	A	FASN	c.3974C>T	NM_004104.5	NP_004095.4:p.(Pro1325Leu)	NC_000017.10:g.80043506G>A	(Likely) benign	2 labs	82d0d245eb
8:11412932 BLK C>T	8	11412932	11412932	C	T	BLK	c.711C>T	NM_001715.2	NP_001706.2:p.(Pro237=)	NC_000008.10:g.11412932C>T	(Likely) benign	3 labs	82c2d85844
22:38525561 PLA2G6 G>A	22	38525561	38525561	G	A	PLA2G6	c.1086C>T	NM_003560.4	NP_003551.2:p.(Asn362=)	NC_000022.10:g.38525561G>A	(Likely) benign	2 labs	82c423f643
7:103205741 RELN G>A	7	103205741	103205741	G	A	RELN	c.5194C>T	NM_005045.4	NP_005036.2:p.(Leu1732Phe)	NC_000007.13:g.103205741G>A	VUS	3 labs	82d54b7998
16:69687339 NFAT5 CTTTA>C	16	69687339	69687348	CTTTA	C	NFAT5	c.1005+14_1005+17del	NM_138713.4	NP_619727.2:p.?	NC_000016.9:g.69687345_69687348del	(Likely) benign	2 labs	82d0997b54
19:12767769 MAN2B1 C>A	19	12767769	12767769	C	A	MAN2B1	c.1521G>T	NM_000528.3	NP_000519.2:p.(Ala507=)	NC_000019.9:g.12767769C>A	(Likely) benign	2 labs	82d397ec42
18:7011295 LAMA1 T>G	18	7011295	7011295	T	G	LAMA1	c.3687+4A>C	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7011295T>G	(Likely) benign	2 labs	82e1559f45
20:57478798 GNAS G>A	20	57478798	57478798	G	A	GNAS	c.384G>A	NM_000516.7	NP_000507.1:p.(Val128=)	NC_000020.10:g.57478798G>A	(Likely) benign	3 labs	82ddbc5004
X:110654043 DCX C>T	X	110654043	110654043	C	T	DCX	c.160G>A	NM_000555.3	NP_000546.2:p.(Glu54Lys)	NC_000023.10:g.110654043C>T	(Likely) benign	3 labs	82f612fa5e
13:111154058 COL4A2 T>A	13	111154058	111154058	T	A	COL4A2	c.3804T>A	NM_001846.4	NP_001837.2:p.(Pro1268=)	NC_000013.10:g.111154058T>A	(Likely) benign	3 labs	fa9363ffe1
18:42530795 SETBP1 C>T	18	42530795	42530795	C	T	SETBP1	c.1490C>T	NM_015559.3	NP_056374.2:p.(Pro497Leu)	NC_000018.9:g.42530795C>T	(Likely) benign	2 labs	82f99166c8
11:65307356 LTBP3 C>T	11	65307356	65307356	C	T	LTBP3	c.3386-4G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307356C>T	(Likely) benign	2 labs	82ffbebbc7
19:12923921 RNASEH2A A>G	19	12923921	12923921	A	G	RNASEH2A	c.662A>G	NM_006397.2	NP_006388.2:p.(Lys221Arg)	NC_000019.9:g.12923921A>G	(Likely) benign	3 labs	8316f527d9
X:31854884 DMD G>T	X	31854884	31854884	G	T	DMD	c.6782C>A	NM_004010.3	NP_004001.1:p.(Ser2261Tyr)	NC_000023.10:g.31854884G>T	(Likely) benign	2 labs	831b2c0678
8:90967686 NBN T>C	8	90967686	90967686	T	C	NBN	c.1222A>G	NM_002485.5	NP_002476.2:p.(Lys408Glu)	NC_000008.10:g.90967686T>C	(Likely) benign	2 labs	831526c09e
1:22154535 HSPG2 G>A	1	22154535	22154535	G	A	HSPG2	c.12523C>T	NM_001291860.1	NP_001278789.1:p.(Arg4175Cys)	NC_000001.10:g.22154535G>A	VUS	2 labs	8322dcc562
9:107568557 ABCA1 A>G	9	107568557	107568557	A	G	ABCA1	c.4429T>C	NM_005502.4	NP_005493.2:p.(Cys1477Arg)	NC_000009.11:g.107568557A>G	(Likely) pathogenic	2 labs	faa7894b57
15:48755380 FBN1 C>T	15	48755380	48755380	C	T	FBN1	c.5123G>A	NM_000138.4	NP_000129.3:p.(Gly1708Glu)	NC_000015.9:g.48755380C>T	VUS	2 labs	8329ab12cd
19:50905089 POLD1 T>C	19	50905089	50905089	T	C	POLD1	c.371T>C	NM_001256849.1	NP_001243778.1:p.(Val124Ala)	NC_000019.9:g.50905089T>C	(Likely) benign	3 labs	8328928aac
2:39224112 SOS1 T>C	2	39224112	39224112	T	C	SOS1	c.3032A>G	NM_005633.4	NP_005624.2:p.(Asn1011Ser)	NC_000002.11:g.39224112T>C	(Likely) benign	4 labs	832a6b37ee
11:76858837 MYO7A C>T	11	76858837	76858837	C	T	MYO7A	c.133-7C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76858837C>T	(Likely) benign	2 labs	832b6fe623
1:17326594 ATP13A2 G>A	1	17326594	17326594	G	A	ATP13A2	c.951C>T	NM_022089.4	NP_071372.1:p.(Cys317=)	NC_000001.10:g.17326594G>A	(Likely) benign	2 labs	8337fda727
16:89245912 CDH15 G>A	16	89245912	89245912	G	A	CDH15	c.131G>A	NM_004933.3	NP_004924.1:p.(Arg44Gln)	NC_000016.9:g.89245912G>A	VUS	2 labs	833af2a75a
15:72978552 BBS4 C>T	15	72978552	72978552	C	T	BBS4	c.-17C>T	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.72978552C>T	(Likely) benign	2 labs	833566c391
16:2126583 TSC2 A>G	16	2126583	2126583	A	G	TSC2	c.2834A>G	NM_000548.3	NP_000539.2:p.(Lys945Arg)	NC_000016.9:g.2126583A>G	VUS	2 labs	8343fcc626
1:152283926 FLG G>T	1	152283926	152283926	G	T	FLG	c.3436C>A	NM_002016.1	NP_002007.1:p.(His1146Asn)	NC_000001.10:g.152283926G>T	(Likely) benign	2 labs	8346fd4e89
14:23858275 MYH6 G>C	14	23858275	23858275	G	C	MYH6	c.3979-11C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858275G>C	(Likely) benign	5 labs	834f7b7270
13:32915005 BRCA2 G>C	13	32915005	32915005	G	C	BRCA2	c.6513G>C	NM_000059.4	NP_000050.3:p.(Val2171=)	NC_000013.10:g.32915005G>C	(Likely) benign	5 labs	fabe86c788
X:77166340 ATP7A C>G	X	77166340	77166340	C	G	ATP7A	c.-22+8C>G	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77166340C>G	(Likely) benign	2 labs	835eed6a02
14:91739546 CCDC88C C>T	14	91739546	91739546	C	T	CCDC88C	c.5510G>A	NM_001080414.3	NP_001073883.2:p.(Gly1837Asp)	NC_000014.8:g.91739546C>T	VUS	2 labs	8361d791bd
9:14805094 FREM1 G>A	9	14805094	14805094	G	A	FREM1	c.3331C>T	NM_144966.5	NP_659403.4:p.(His1111Tyr)	NC_000009.11:g.14805094G>A	(Likely) benign	3 labs	8364c54301
21:45714359 AIRE C>T	21	45714359	45714359	C	T	AIRE				NC_000021.8:g.45714359C>T	(Likely) benign	3 labs	83668e9510
16:2140912 PKD1 G>A	16	2140912	2140912	G	A	PKD1	c.11976C>T	NM_001009944.2	NP_001009944.2:p.(Ala3992=)	NC_000016.9:g.2140912G>A	(Likely) benign	2 labs	8367246e07
2:47702261 MSH2 T>G	2	47702261	47702261	T	G	MSH2	c.1857T>G	NM_000251.2	NP_000242.1:p.(Tyr619Ter)	NC_000002.11:g.47702261T>G	(Likely) pathogenic	2 labs	8378e03f27
6:83878990 PGM3 G>A	6	83878990	83878990	G	A	PGM3	c.1676C>T	NM_001199917.2	NP_001186846.1:p.(Ala559Val)	NC_000006.11:g.83878990G>A	VUS	2 labs	837c32565b
3:186944313 MASP1 G>C	3	186944313	186944313	G	C	MASP1	c.1442-5C>G	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.186944313G>C	(Likely) benign	2 labs	8383dabcc4
2:179649066 TTN C>T	2	179649066	179649066	C	T	TTN	c.2506G>A	NM_001267550.1	NP_001254479.1:p.(Gly836Ser)	NC_000002.11:g.179649066C>T	VUS	2 labs	838a3e4fc0
9:130423373 STXBP1 A>G	9	130423373	130423373	A	G	STXBP1	c.326-8A>G	NM_003165.3	NP_003156.1:p.?	NC_000009.11:g.130423373A>G	(Likely) benign	2 labs	838ad4d57c
17:1629325 WDR81 A>G	17	1629325	1629325	A	G	WDR81	c.1072A>G	NM_001163809.1	NP_001157281.1:p.(Ser358Gly)	NC_000017.10:g.1629325A>G	VUS	2 labs	8397e1e338
9:37783955 EXOSC3 A>G	9	37783955	37783955	A	G	EXOSC3	c.430T>C	NM_016042.3	NP_057126.2:p.(Leu144=)	NC_000009.11:g.37783955A>G	(Likely) benign	2 labs	83ad9c7269
14:91804428 CCDC88C C>T	14	91804428	91804428	C	T	CCDC88C	c.971G>A	NM_001080414.4	NP_001073883.2:p.(Arg324His)	NC_000014.8:g.91804428C>T	VUS	2 labs	83b88ba452
2:136567154 LCT C>T	2	136567154	136567154	C	T	LCT	c.2763G>A	NM_002299.2	NP_002290.2:p.(Ala921=)	NC_000002.11:g.136567154C>T	(Likely) benign	2 labs	83bab8678e
X:47308346 ZNF41 C>G	X	47308346	47308346	C	G	ZNF41	c.823G>C	NM_007130.3	NP_009061.1:p.(Glu275Gln)	NC_000023.10:g.47308346C>G	(Likely) benign	2 labs	83c6f01943
13:32910711 BRCA2 C>T	13	32910711	32910711	C	T	BRCA2	c.2219C>T	NM_000059.3	NP_000050.2:p.(Pro740Leu)	NC_000013.10:g.32910711C>T	(Likely) benign	2 labs	83cbfa1105
3:139086977 COPB2 A>T	3	139086977	139086977	A	T	COPB2	c.1545+10T>A	NM_004766.3	NP_004757.1:p.?	NC_000003.11:g.139086977A>T	(Likely) benign	2 labs	83d21bcc0c
10:82034854 MAT1A T>C	10	82034854	82034854	T	C	MAT1A	c.870A>G	NM_000429.3	NP_000420.1:p.(Val290=)	NC_000010.10:g.82034854T>C	(Likely) benign	2 labs	fadbb6e84a
21:46929400 COL18A1 G>A	21	46929400	46929400	G	A	COL18A1	c.4616G>A	NM_130444.3	NP_569711.2:p.(Arg1539His)	NC_000021.8:g.46929400G>A	(Likely) benign	2 labs	83dbf435b9
1:236906280 ACTN2 C>T	1	236906280	236906280	C	T	ACTN2	c.1192C>T	NM_001103.4	NP_001094.1:p.(Arg398Cys)	NC_000001.10:g.236906280C>T	VUS	5 labs	fadc5b1dbd
11:66454564 SPTBN2 G>A	11	66454564	66454564	G	A	SPTBN2	c.6797C>T	NM_006946.3	NP_008877.1:p.(Ala2266Val)	NC_000011.9:g.66454564G>A	(Likely) benign	2 labs	83e7ee265e
2:96954819 SNRNP200 C>A	2	96954819	96954819	C	A	SNRNP200	c.3130G>T	NM_014014.4	NP_054733.2:p.(Val1044Leu)	NC_000002.11:g.96954819C>A	VUS	2 labs	83f202faa4
17:29528489 NF1 C>T	17	29528489	29528489	C	T	NF1	c.1246C>T	NM_000267.3	NP_000258.1:p.(Arg416Ter)	NC_000017.10:g.29528489C>T	(Likely) pathogenic	2 labs	83f645a0d1
17:37842254 PGAP3 T>C	17	37842254	37842254	T	C	PGAP3	c.200A>G	NM_033419.4	NP_219487.3:p.(Asp67Gly)	NC_000017.10:g.37842254T>C	VUS	2 labs	83ff59fd0f
22:36700151 MYH9 T>C	22	36700151	36700151	T	C	MYH9	c.2280A>G	NM_002473.5	NP_002464.1:p.(Lys760=)	NC_000022.10:g.36700151T>C	(Likely) benign	3 labs	84098ea37d
15:49088254 CEP152 C>T	15	49088254	49088254	C	T	CEP152	c.644G>A	NM_001194998.1	NP_001181927.1:p.(Ser215Asn)	NC_000015.9:g.49088254C>T	(Likely) benign	2 labs	840af57275
3:38595747 SCN5A G>A	3	38595747	38595747	G	A	SCN5A	c.4813+23C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38595747G>A	(Likely) benign	2 labs	84141b0f42
12:110029153 MVK C>T	12	110029153	110029153	C	T	MVK	c.876C>T	NM_000431.4	NP_000422.1:p.(Leu292=)	NC_000012.11:g.110029153C>T	(Likely) benign	3 labs	8414220ba8
9:126132760 CRB2 T>G	9	126132760	126132760	T	G	CRB2	c.1428T>G	NM_173689.6	NP_775960.4:p.(Thr476=)	NC_000009.11:g.126132760T>G	(Likely) benign	2 labs	8414a6ba15
2:179481594 TTN G>A	2	179481594	179481594	G	A	TTN	c.48022C>T	NM_001267550.2	NP_001254479.2:p.(Arg16008Trp)	NC_000002.11:g.179481594G>A	VUS	2 labs	fae7ba1439
11:102995941 DYNC2H1 C>T	11	102995941	102995941	C	T	DYNC2H1	c.1774C>T	NM_001080463.1	NP_001073932.1:p.(Leu592Phe)	NC_000011.9:g.102995941C>T	VUS	3 labs	841aa1811a
2:179413573 TTN A>T	2	179413573	179413573	A	T	TTN	c.92780T>A	NM_001267550.2	NP_001254479.2:p.(Ile30927Lys)	NC_000002.11:g.179413573A>T	(Likely) benign	4 labs	8418e43b0b
8:41789998 KAT6A T>C	8	41789998	41789998	T	C	KAT6A	c.5740A>G	NM_006766.4	NP_006757.2:p.(Met1914Val)	NC_000008.10:g.41789998T>C	(Likely) benign	2 labs	842aa03682
17:18051884 MYO15A T>A	17	18051884	18051884	T	A	MYO15A	c.6764+2T>A	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18051884T>A	(Likely) pathogenic	3 labs	843ec35b4f
1:197093361 ASPM G>A	1	197093361	197093361	G	A	ASPM	c.3269C>T	NM_018136.4	NP_060606.3:p.(Ser1090Phe)	NC_000001.10:g.197093361G>A	(Likely) benign	2 labs	843a69d3ee
17:70119121 SOX9 G>A	17	70119121	70119121	G	A	SOX9	c.685+8G>A	NM_000346.3	NP_000337.1:p.?	NC_000017.10:g.70119121G>A	(Likely) benign	3 labs	84401b1e29
11:67761176 UNC93B1 C>T	11	67761176	67761176	C	T	UNC93B1	c.1453G>A	NM_030930.2	NP_112192.2:p.(Val485Met)	NC_000011.9:g.67761176C>T	(Likely) benign	2 labs	844bdc0edb
17:7605088 WRAP53 C>T	17	7605088	7605088	C	T	WRAP53	c.936C>T	NM_018081.2	NP_060551.2:p.(Cys312=)	NC_000017.10:g.7605088C>T	(Likely) benign	2 labs	844ed80fd4
1:152281423 FLG C>T	1	152281423	152281423	C	T	FLG	c.5939G>A	NM_002016.1	NP_002007.1:p.(Arg1980His)	NC_000001.10:g.152281423C>T	(Likely) benign	2 labs	8456477985
7:107566728 LAMB1 A>G	7	107566728	107566728	A	G	LAMB1	c.4964T>C	NM_002291.3	NP_002282.2:p.(Val1655Ala)	NC_000007.13:g.107566728A>G	VUS	2 labs	845d8260c4
7:69583176 AUTS2 C>T	7	69583176	69583176	C	T	AUTS2	c.581C>T	NM_001127231.2	NP_001120703.1:p.(Ser194Phe)	NC_000007.13:g.69583176C>T	VUS	3 labs	84677d0344
6:152751286 SYNE1 A>T	6	152751286	152751286	A	T	SYNE1	c.4749T>A	NM_182961.3	NP_892006.3:p.(Ser1583=)	NC_000006.11:g.152751286A>T	(Likely) benign	2 labs	8467dd6022
7:73483017 ELN G>A	7	73483017	73483017	G	A	ELN	c.2348G>A	NM_001278939.1	NP_001265868.1:p.(Arg783Gln)	NC_000007.13:g.73483017G>A	VUS	2 labs	8471708d5c
1:152280023 FLG G>A	1	152280023	152280023	G	A	FLG	c.7339C>T	NM_002016.2	NP_002007.1:p.(Arg2447Ter)	NC_000001.10:g.152280023G>A	(Likely) pathogenic	4 labs	84748f772a
16:89350070 ANKRD11 C>G	16	89350070	89350070	C	G	ANKRD11	c.2880G>C	NM_001256182.2	NP_001243111.1:p.(Glu960Asp)	NC_000016.9:g.89350070C>G	(Likely) benign	3 labs	8476e61024
1:12010522 PLOD1 G>A	1	12010522	12010522	G	A	PLOD1	c.411G>A	NM_000302.4	NP_000293.2:p.(Arg137=)	NC_000001.10:g.12010522G>A	(Likely) benign	2 labs	8473226bd7
1:216019284 USH2A T>C	1	216019284	216019284	T	C	USH2A	c.8937A>G	NM_206933.4	NP_996816.3:p.(Val2979=)	NC_000001.10:g.216019284T>C	(Likely) benign	2 labs	8474ac99c7
12:6062708 VWF G>A	12	6062708	6062708	G	A	VWF	c.7940C>T	NM_000552.3	NP_000543.2:p.(Thr2647Met)	NC_000012.11:g.6062708G>A	(Likely) benign	3 labs	847cd10bb0
14:64867522 MTHFD1 C>T	14	64867522	64867522	C	T	MTHFD1	c.53C>T	NM_005956.4	NP_005947.3:p.(Ala18Val)	NC_000014.8:g.64867522C>T	(Likely) benign	2 labs	847e24623b
19:7132333 INSR G>A	19	7132333	7132333	G	A	INSR	c.2683-5C>T	NM_000208.3	NP_000199.2:p.?	NC_000019.9:g.7132333G>A	(Likely) benign	3 labs	847fccebe5
6:129828685 LAMA2 C>T	6	129828685	129828685	C	T	LAMA2	c.8755C>T	NM_000426.4	NP_000417.3:p.(Pro2919Ser)	NC_000006.11:g.129828685C>T	(Likely) benign	2 labs	848b340f8c
5:73163861 ARHGEF28 C>T	5	73163861	73163861	C	T	ARHGEF28	c.2297+16C>T	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73163861C>T	(Likely) benign	2 labs	848fde302d
2:179438557 TTN G>T	2	179438557	179438557	G	T	TTN	c.64598C>A	NM_133378.4	NP_596869.4:p.(Thr21533Asn)	NC_000002.11:g.179438557G>T	(Likely) benign	4 labs	849b9e14a2
2:179417523 TTN C>T	2	179417523	179417523	C	T	TTN	c.90104G>A	NM_001267550.1	NP_001254479.1:p.(Arg30035His)	NC_000002.11:g.179417523C>T	VUS	2 labs	8492b82586
17:40696045 NAGLU G>A	17	40696045	40696045	G	A	NAGLU	c.2021G>A	NM_000263.4	NP_000254.2:p.(Arg674His)	NC_000017.10:g.40696045G>A	(Likely) pathogenic	2 labs	84a4516289
14:64633970 SYNE2 C>T	14	64633970	64633970	C	T	SYNE2	c.16625C>T	NM_182914.2	NP_878918.2:p.(Thr5542Ile)	NC_000014.8:g.64633970C>T	(Likely) benign	2 labs	84a1660e8e
10:68526052 CTNNA3 T>C	10	68526052	68526052	T	C	CTNNA3	c.1251A>G	NM_013266.4	NP_037398.2:p.(Ile417Met)	NC_000010.10:g.68526052T>C	VUS	3 labs	84be0783fd
7:128480909 FLNC C>T	7	128480909	128480909	C	T	FLNC	c.1698C>T	NM_001458.4	NP_001449.3:p.(Ser566=)	NC_000007.13:g.128480909C>T	(Likely) benign	2 labs	84c3337743
X:152226762 PNMA3 C>G	X	152226762	152226762	C	G	PNMA3	c.1350C>G	NM_013364.5	NP_037496.4:p.(Asn450Lys)	NC_000023.10:g.152226762C>G	(Likely) benign	2 labs	84c8a360e9
16:11260273 CLEC16A G>A	16	11260273	11260273	G	A	CLEC16A	c.2670G>A	NM_015226.2	NP_056041.1:p.(Gln890=)	NC_000016.9:g.11260273G>A	(Likely) benign	2 labs	84c9a3b02d
18:6974948 LAMA1 C>A	18	6974948	6974948	C	A	LAMA1	c.6577G>T	NM_005559.3	NP_005550.2:p.(Asp2193Tyr)	NC_000018.9:g.6974948C>A	VUS	2 labs	84d7662b2a
18:21116684 NPC1 G>A	18	21116684	21116684	G	A	NPC1	c.3198C>T	NM_000271.5	NP_000262.2:p.(Thr1066=)	NC_000018.9:g.21116684G>A	(Likely) benign	3 labs	fb012d6c72
X:74334634 ABCB7 C>G	X	74334634	74334634	C	G	ABCB7	c.204G>C	NM_004299.6	NP_004290.2:p.(Gln68His)	NC_000023.10:g.74334634C>G	(Likely) benign	2 labs	84de159de8
2:48027839 MSH6 CTG>C	2	48027839	48027842	CTG	C	MSH6	c.2719_2720del	NM_000179.3	NP_000170.1:p.(Val907ArgfsTer10)	NC_000002.11:g.48027841_48027842del	(Likely) pathogenic	3 labs	84e4c3f027
1:65860687 DNAJC6 A>C	1	65860687	65860687	A	C	DNAJC6	c.2010A>C	NM_001256864.2	NP_001243793.1:p.(Pro670=)	NC_000001.10:g.65860687A>C	(Likely) benign	2 labs	84e702250f
10:88459050 LDB3 G>A	10	88459050	88459050	G	A	LDB3	c.1116G>A	NM_001171611.2	NP_001165082.1:p.(Thr372=)	NC_000010.10:g.88459050G>A	(Likely) benign	5 labs	fb08cfa20a
17:41223167 BRCA1 A>G	17	41223167	41223167	A	G	BRCA1	c.4764T>C	NM_007294.3	NP_009225.1:p.(Ala1588=)	NC_000017.10:g.41223167A>G	(Likely) benign	3 labs	84efc557a8
20:62562194 DNAJC5 C>T	20	62562194	62562194	C	T	DNAJC5	c.322-10C>T	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62562194C>T	(Likely) benign	2 labs	84f010dcc0
13:32900440 BRCA2 A>T	13	32900440	32900440	A	T	BRCA2	c.516+21A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900440A>T	(Likely) benign	4 labs	84fed49f2a
15:51041909 SPPL2A C>T	15	51041909	51041909	C	T	SPPL2A	c.101G>A	NM_032802.4	NP_116191.2:p.(Gly34Glu)	NC_000015.9:g.51041909C>T	(Likely) benign	2 labs	84fefc110a
7:124532380 POT1 T>C	7	124532380	124532380	T	C	POT1	c.64A>G	NM_015450.2	NP_056265.2:p.(Ile22Val)	NC_000007.13:g.124532380T>C	(Likely) benign	3 labs	85073fd951
17:39727758 KRT9 G>A	17	39727758	39727758	G	A	KRT9	c.487C>T	NM_000226.4	NP_000217.2:p.(Arg163Trp)	NC_000017.10:g.39727758G>A	(Likely) pathogenic	2 labs	fb0f115760
14:23886877 MYH7 C>T	14	23886877	23886877	C	T	MYH7	c.4188G>A	NM_000257.4	NP_000248.2:p.(Arg1396=)	NC_000014.8:g.23886877C>T	(Likely) benign	6 labs	850c9b14ec
4:146576408 MMAA G>A	4	146576408	146576408	G	A	MMAA	c.1079G>A	NM_172250.3	NP_758454.1:p.(Arg360Gln)	NC_000004.11:g.146576408G>A	VUS	2 labs	85159307c9
14:102495856 DYNC1H1 A>T	14	102495856	102495856	A	T	DYNC1H1	c.9469-20A>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102495856A>T	(Likely) benign	3 labs	85281d345c
2:179425013 TTN G>A	2	179425013	179425013	G	A	TTN	c.85846C>T	NM_001267550.2	NP_001254479.2:p.(Arg28616Trp)	NC_000002.11:g.179425013G>A	VUS	2 labs	852b8158c2
3:164764786 SI A>C	3	164764786	164764786	A	C	SI	c.1730T>G	NM_001041.4	NP_001032.2:p.(Val577Gly)	NC_000003.11:g.164764786A>C	(Likely) pathogenic	3 labs	8535dc3fda
16:74750359 FA2H C>T	16	74750359	74750359	C	T	FA2H	c.925G>A	NM_024306.4	NP_077282.3:p.(Val309Ile)	NC_000016.9:g.74750359C>T	VUS	2 labs	8537daf949
1:120508991 NOTCH2 G>A	1	120508991	120508991	G	A	NOTCH2	c.1567+8C>T	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120508991G>A	(Likely) benign	2 labs	853fd9194a
17:45015996 GOSR2 A>G	17	45015996	45015996	A	G	GOSR2	c.509A>G	NM_004287.5	NP_004278.2:p.(Asn170Ser)	NC_000017.10:g.45015996A>G	VUS	2 labs	85473607e9
15:90188361 KIF7 G>C	15	90188361	90188361	G	C	KIF7	c.2074C>G	NM_198525.2	NP_940927.2:p.(Gln692Glu)	NC_000015.9:g.90188361G>C	(Likely) benign	3 labs	854d9e6d7e
1:27699761 FCN3 A>G	1	27699761	27699761	A	G	FCN3	c.266-7T>C	NM_003665.2	NP_003656.2:p.?	NC_000001.10:g.27699761A>G	(Likely) benign	2 labs	854dc0bf0f
X:73744491 SLC16A2 A>T	X	73744491	73744491	A	T	SLC16A2	c.873A>T	NM_006517.5	NP_006508.2:p.(Pro291=)	NC_000023.10:g.73744491A>T	(Likely) benign	2 labs	854f9a2daf
18:32391956 DTNA T>C	18	32391956	32391956	T	C	DTNA	c.482T>C	NM_001198939.2	NP_001185868.1:p.(Val161Ala)	NC_000018.9:g.32391956T>C	(Likely) benign	2 labs	85527556b7
2:21232140 APOB G>A	2	21232140	21232140	G	A	APOB	c.7600C>T	NM_000384.3	NP_000375.3:p.(Arg2534Ter)	NC_000002.11:g.21232140G>A	(Likely) pathogenic	2 labs	fb24aa8b9c
11:20623023 SLC6A5 C>T	11	20623023	20623023	C	T	SLC6A5	c.352C>T	NM_004211.5	NP_004202.4:p.(Leu118=)	NC_000011.9:g.20623023C>T	(Likely) benign	2 labs	fb29230631
19:39009932 RYR1 G>A	19	39009932	39009932	G	A	RYR1	c.10097G>A	NM_000540.3	NP_000531.2:p.(Arg3366His)	NC_000019.9:g.39009932G>A	VUS	3 labs	855c280243
1:237961357 RYR2 G>A	1	237961357	237961357	G	A	RYR2	c.13977G>A	NM_001035.3	NP_001026.2:p.(Glu4659=)	NC_000001.10:g.237961357G>A	(Likely) benign	3 labs	fb2b08b2a3
7:47942116 PKD1L1 G>A	7	47942116	47942116	G	A	PKD1L1	c.1932-8C>T	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47942116G>A	(Likely) benign	2 labs	856cc6cb1f
17:78069097 CCDC40 G>A	17	78069097	78069097	G	A	CCDC40	c.2868G>A	NM_017950.3	NP_060420.2:p.(Lys956=)	NC_000017.10:g.78069097G>A	(Likely) benign	2 labs	856d78201c
20:31024488 ASXL1 C>T	20	31024488	31024488	C	T	ASXL1	c.3973C>T	NM_015338.5	NP_056153.2:p.(Leu1325Phe)	NC_000020.10:g.31024488C>T	(Likely) benign	3 labs	8572559b0d
18:77513721 CTDP1 T>C	18	77513721	77513721	T	C	CTDP1	c.2817T>C	NM_004715.5	NP_004706.3:p.(Asp939=)	NC_000018.9:g.77513721T>C	(Likely) benign	2 labs	fb35b8cd3b
11:70052265 FADD T>C	11	70052265	70052265	T	C	FADD	c.313T>C	NM_003824.3	NP_003815.1:p.(Cys105Arg)	NC_000011.9:g.70052265T>C	(Likely) pathogenic	2 labs	8575bdcb23
X:152823728 ATP2B3 G>C	X	152823728	152823728	G	C	ATP2B3	c.2592G>C	NM_021949.3	NP_068768.2:p.(Val864=)	NC_000023.10:g.152823728G>C	(Likely) benign	2 labs	857ff204dd
13:20763642 GJB2 C>T	13	20763642	20763642	C	T	GJB2	c.79G>A	NM_004004.6	NP_003995.2:p.(Val27Ile)	NC_000013.10:g.20763642C>T	(Likely) benign	3 labs	858398cebe
13:32914137 BRCA2 C>A	13	32914137	32914137	C	A	BRCA2	c.5645C>A	NM_000059.4	NP_000050.3:p.(Ser1882Ter)	NC_000013.10:g.32914137C>A	(Likely) pathogenic	7 labs	fb37a808ec
20:62324211 RTEL1 C>T	20	62324211	62324211	C	T	RTEL1	c.2706C>T	NM_001283009.1	NP_001269938.1:p.(Ala902=)	NC_000020.10:g.62324211C>T	(Likely) benign	2 labs	85a36fe196
17:10542799 MYH3 G>A	17	10542799	10542799	G	A	MYH3	c.2926-8C>T	NM_002470.3	NP_002461.2:p.?	NC_000017.10:g.10542799G>A	(Likely) benign	2 labs	85a5dbbaeb
21:34053961 SYNJ1 T>A	21	34053961	34053961	T	A	SYNJ1	c.1318-3A>T	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34053961T>A	(Likely) benign	2 labs	85a3c7d51f
12:52867297 KRT6C GC>G	12	52867297	52867302	GC	G	KRT6C	c.224del	NM_173086.5	NP_775109.2:p.(Gly75AlafsTer71)	NC_000012.11:g.52867302del	VUS	2 labs	85ae0f9f10
6:145948833 EPM2A C>T	6	145948833	145948833	C	T	EPM2A	c.719-4G>A	NM_005670.3	NP_005661.1:p.?	NC_000006.11:g.145948833C>T	(Likely) benign	2 labs	85b3236867
1:215956140 USH2A T>A	1	215956140	215956140	T	A	USH2A	c.10525A>T	NM_206933.4	NP_996816.3:p.(Lys3509Ter)	NC_000001.10:g.215956140T>A	(Likely) pathogenic	3 labs	85b01c1cac
11:64507626 RASGRP2 G>C	11	64507626	64507626	G	C	RASGRP2	c.381C>G	NM_153819.1	NP_722541.1:p.(Tyr127Ter)	NC_000011.9:g.64507626G>C	(Likely) pathogenic	2 labs	85bdda76ac
5:1294356 TERT G>A	5	1294356	1294356	G	A	TERT	c.645C>T	NM_198253.3	NP_937983.2:p.(Gly215=)	NC_000005.9:g.1294356G>A	(Likely) benign	2 labs	85cb3d7bcc
2:31606685 XDH C>T	2	31606685	31606685	C	T	XDH	c.822G>A	NM_000379.3	NP_000370.2:p.(Leu274=)	NC_000002.11:g.31606685C>T	(Likely) benign	2 labs	85c5f6bb45
17:8132106 CTC1 T>C	17	8132106	8132106	T	C	CTC1	c.3326A>G	NM_025099.6	NP_079375.3:p.(Asp1109Gly)	NC_000017.10:g.8132106T>C	(Likely) benign	3 labs	85d14b3dff
19:13428125 CACNA1A G>A	19	13428125	13428125	G	A	CACNA1A	c.1359C>T	NM_023035.2	NP_075461.2:p.(Phe453=)	NC_000019.9:g.13428125G>A	(Likely) benign	2 labs	85dae9b10d
X:69497989 ARR3 G>A	X	69497989	69497989	G	A	ARR3	c.767+1G>A	NM_004312.2	NP_004303.2:p.?	NC_000023.10:g.69497989G>A	(Likely) pathogenic	2 labs	85e1082b1d
22:17577965 IL17RA C>T	22	17577965	17577965	C	T	IL17RA	c.152C>T	NM_014339.6	NP_055154.3:p.(Thr51Met)	NC_000022.10:g.17577965C>T	(Likely) benign	2 labs	85e4ff1fc5
1:55518287 PCSK9 G>A	1	55518287	55518287	G	A	PCSK9	c.658-36G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518287G>A	(Likely) benign	2 labs	fb4bc0c901
19:3910894 ATCAY C>T	19	3910894	3910894	C	T	ATCAY	c.866+7C>T	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3910894C>T	(Likely) benign	2 labs	85eb1dfaa0
19:13323261 CACNA1A C>T	19	13323261	13323261	C	T	CACNA1A	c.6144G>A	NM_023035.2	NP_075461.2:p.(Thr2048=)	NC_000019.9:g.13323261C>T	(Likely) benign	3 labs	85ec5fa38e
9:131388089 SPTAN1 C>T	9	131388089	131388089	C	T	SPTAN1	c.6111C>T	NM_001363759.1	NP_001350688.1:p.(Gly2037=)	NC_000009.11:g.131388089C>T	(Likely) benign	2 labs	85ed58ffd7
1:94471154 ABCA4 C>T	1	94471154	94471154	C	T	ABCA4	c.6006-16G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94471154C>T	(Likely) benign	3 labs	85f079e1d8
X:71825211 PHKA1 G>C	X	71825211	71825211	G	C	PHKA1	c.2725C>G	NM_002637.3	NP_002628.2:p.(Pro909Ala)	NC_000023.10:g.71825211G>C	VUS	2 labs	85ef79df60
7:1520975 INTS1 T>C	7	1520975	1520975	T	C	INTS1	c.3850+3A>G	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1520975T>C	VUS	2 labs	85fc16e1bb
19:54314489 NLRP12 C>T	19	54314489	54314489	C	T	NLRP12	c.424G>A	NM_001277126.1	NP_001264055.1:p.(Asp142Asn)	NC_000019.9:g.54314489C>T	(Likely) benign	2 labs	8609526558
11:20676326 SLC6A5 G>A	11	20676326	20676326	G	A	SLC6A5	c.2306G>A	NM_004211.5	NP_004202.4:p.(Arg769His)	NC_000011.9:g.20676326G>A	(Likely) benign	2 labs	86245fd2aa
16:3658627 SLX4 A>G	16	3658627	3658627	A	G	SLX4	c.339T>C	NM_032444.4	NP_115820.2:p.(Ser113=)	NC_000016.9:g.3658627A>G	(Likely) benign	2 labs	8613c12862
17:29508508 NF1 G>A	17	29508508	29508508	G	A	NF1	c.654+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508508G>A	(Likely) pathogenic	2 labs	8625369430
19:5047483 KDM4B A>G	19	5047483	5047483	A	G	KDM4B	c.433-4A>G	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5047483A>G	(Likely) benign	2 labs	8644b875d3
5:13845045 DNAH5 G>A	5	13845045	13845045	G	A	DNAH5	c.5172C>T	NM_001369.3	NP_001360.1:p.(Ala1724=)	NC_000005.9:g.13845045G>A	(Likely) benign	2 labs	864ae6cb10
3:12641732 RAF1 T>G	3	12641732	12641732	T	G	RAF1	c.909A>C	NM_002880.3	NP_002871.1:p.(Thr303=)	NC_000003.11:g.12641732T>G	(Likely) benign	2 labs	8645443ac3
21:47838112 PCNT T>TATCTG	21	47838112	47838114	T	TATCTG	PCNT	c.6922-5_6922-4insTCTGA	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47838113_47838114insTCTGA	(Likely) benign	3 labs	864c16ca32
17:10535349 MYH3 C>G	17	10535349	10535349	C	G	MYH3	c.4957-16G>C	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10535349C>G	(Likely) benign	3 labs	fb570be0e1
12:48387235 COL2A1 A>G	12	48387235	48387235	A	G	COL2A1	c.969+6T>C	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48387235A>G	(Likely) benign	2 labs	864b0339e5
20:47991163 KCNB1 G>A	20	47991163	47991163	G	A	KCNB1	c.934C>T	NM_004975.4	NP_004966.1:p.(Arg312Cys)	NC_000020.10:g.47991163G>A	(Likely) pathogenic	3 labs	864c0d29af
20:62044877 KCNQ2 G>A	20	62044877	62044877	G	A	KCNQ2	c.1689C>T	NM_172107.3	NP_742105.1:p.(Asp563=)	NC_000020.10:g.62044877G>A	(Likely) benign	2 labs	86590f7920
2:179429642 TTN G>A	2	179429642	179429642	G	A	TTN	c.81217C>T	NM_001267550.2	NP_001254479.2:p.(Pro27073Ser)	NC_000002.11:g.179429642G>A	VUS	2 labs	864def1031
5:90050990 ADGRV1 T>C	5	90050990	90050990	T	C	ADGRV1	c.11568T>C	NM_032119.4	NP_115495.3:p.(Val3856=)	NC_000005.9:g.90050990T>C	(Likely) benign	2 labs	8655304823
1:161298167 SDHC C>T	1	161298167	161298167	C	T	SDHC	c.78-19C>T	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161298167C>T	(Likely) benign	3 labs	fb5b4fd01a
7:128040882 IMPDH1 G>A	7	128040882	128040882	G	A	IMPDH1	c.568C>T	NM_000883.3	NP_000874.2:p.(Arg190Trp)	NC_000007.13:g.128040882G>A	VUS	2 labs	866039826c
11:76901085 MYO7A C>T	11	76901085	76901085	C	T	MYO7A	c.3651C>T	NM_000260.3	NP_000251.3:p.(His1217=)	NC_000011.9:g.76901085C>T	(Likely) benign	2 labs	86612e6f39
2:47630353 MSH2 C>T	2	47630353	47630353	C	T	MSH2	c.23C>T	NM_000251.3	NP_000242.1:p.(Thr8Met)	NC_000002.11:g.47630353C>T	(Likely) benign	4 labs	865fa9940d
14:23244749 SLC7A7 C>T	14	23244749	23244749	C	T	SLC7A7	c.999G>A	NM_001126106.4	NP_001119578.1:p.(Arg333=)	NC_000014.8:g.23244749C>T	(Likely) benign	3 labs	86654cbf16
18:6965301 LAMA1 C>T	18	6965301	6965301	C	T	LAMA1	c.7181G>A	NM_005559.4	NP_005550.2:p.(Arg2394Gln)	NC_000018.9:g.6965301C>T	VUS	3 labs	8672201952
14:76543004 IFT43 G>A	14	76543004	76543004	G	A	IFT43	c.280G>A	NM_052873.2	NP_443105.2:p.(Asp94Asn)	NC_000014.8:g.76543004G>A	(Likely) benign	2 labs	8676c64e4a
2:39249864 SOS1 G>C	2	39249864	39249864	G	C	SOS1	c.1705C>G	NM_005633.4	NP_005624.2:p.(Leu569Val)	NC_000002.11:g.39249864G>C	(Likely) benign	2 labs	fb6e35143b
20:62070961 KCNQ2 G>A	20	62070961	62070961	G	A	KCNQ2	c.917C>T	NM_172107.4	NP_742105.1:p.(Ala306Val)	NC_000020.10:g.62070961G>A	(Likely) pathogenic	2 labs	fb737172e0
2:189862100 COL3A1 A>T	2	189862100	189862100	A	T	COL3A1	c.1854A>T	NM_000090.4	NP_000081.2:p.(Gly618=)	NC_000002.11:g.189862100A>T	(Likely) benign	3 labs	867d617794
11:57574441 CTNND1 C>T	11	57574441	57574441	C	T	CTNND1	c.1949C>T	NM_001085458.2	NP_001078927.1:p.(Thr650Met)	NC_000011.9:g.57574441C>T	VUS	2 labs	868811b476
3:142277575 ATR A>T	3	142277575	142277575	A	T	ATR	c.1776T>A	NM_001184.4	NP_001175.2:p.(Gly592=)	NC_000003.11:g.142277575A>T	(Likely) benign	2 labs	fb74edcd7d
16:2550292 TBC1D24 C>T	16	2550292	2550292	C	T	TBC1D24	c.1326C>T	NM_001199107.1	NP_001186036.1:p.(Tyr442=)	NC_000016.9:g.2550292C>T	(Likely) benign	2 labs	8688dac8f0
17:42429469 GRN C>T	17	42429469	42429469	C	T	GRN	c.1266C>T	NM_002087.2	NP_002078.1:p.(Ile422=)	NC_000017.10:g.42429469C>T	(Likely) benign	2 labs	86921e14a4
20:30418876 MYLK2 G>A	20	30418876	30418876	G	A	MYLK2	c.1356G>A	NM_033118.4	NP_149109.1:p.(Glu452=)	NC_000020.10:g.30418876G>A	(Likely) benign	4 labs	869547debd
13:32893291 BRCA2 G>T	13	32893291	32893291	G	T	BRCA2	c.145G>T	NM_000059.4	NP_000050.3:p.(Glu49Ter)	NC_000013.10:g.32893291G>T	(Likely) pathogenic	3 labs	fb754a90df
11:67770651 UNC93B1 G>A	11	67770651	67770651	G	A	UNC93B1	c.239-6C>T	NM_030930.2	NP_112192.2:p.?	NC_000011.9:g.67770651G>A	(Likely) benign	2 labs	869ed557f4
5:56177743 MAP3K1 G>A	5	56177743	56177743	G	A	MAP3K1	c.2716G>A	NM_005921.2	NP_005912.1:p.(Val906Ile)	NC_000005.9:g.56177743G>A	(Likely) benign	2 labs	86a3a64029
9:5022130 JAK2 G>A	9	5022130	5022130	G	A	JAK2	c.143G>A	NM_001322194.1	NP_001309123.1:p.(Gly48Glu)	NC_000009.11:g.5022130G>A	(Likely) benign	2 labs	86a3fb788c
2:179407621 TTN A>G	2	179407621	179407621	A	G	TTN	c.96960T>C	NM_001267550.2	NP_001254479.2:p.(Ala32320=)	NC_000002.11:g.179407621A>G	(Likely) benign	2 labs	fb79989723
10:112595719 RBM20 G>C	10	112595719	112595719	G	C	RBM20	c.3667G>C	NM_001134363.3	NP_001127835.2:p.(Glu1223Gln)	NC_000010.10:g.112595719G>C	(Likely) benign	4 labs	fb7cc76565
16:2138294 TSC2 C>T	16	2138294	2138294	C	T	TSC2	c.5227C>T	NM_000548.3	NP_000539.2:p.(Arg1743Trp)	NC_000016.9:g.2138294C>T	(Likely) pathogenic	2 labs	86b4638878
15:48713770 FBN1 C>T	15	48713770	48713770	C	T	FBN1	c.7684G>A	NM_000138.4	NP_000129.3:p.(Gly2562Ser)	NC_000015.9:g.48713770C>T	VUS	2 labs	86bc652274
7:92761144 SAMD9L G>GT	7	92761144	92761147	G	GT	SAMD9L	c.4140dup	NM_152703.5	NP_689916.2:p.(Gln1381ThrfsTer77)	NC_000007.13:g.92761147dup	VUS	4 labs	86c4bcdc99
1:27106025 ARID1A G>A	1	27106025	27106025	G	A	ARID1A	c.5636G>A	NM_006015.4	NP_006006.3:p.(Arg1879Gln)	NC_000001.10:g.27106025G>A	(Likely) benign	2 labs	86cd630e8d
17:43342594 MAP3K14 T>C	17	43342594	43342594	T	C	MAP3K14	c.2615A>G	NM_003954.5	NP_003945.2:p.(His872Arg)	NC_000017.10:g.43342594T>C	VUS	2 labs	86db08ae25
12:22040822 ABCC9 C>T	12	22040822	22040822	C	T	ABCC9	c.1849G>A	NM_020297.2	NP_064693.2:p.(Asp617Asn)	NC_000012.11:g.22040822C>T	VUS	2 labs	86d64f3460
16:89851379 FANCA G>A	16	89851379	89851379	G	A	FANCA	c.1360-7C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89851379G>A	(Likely) benign	2 labs	fb8a5d0845
5:37230994 CPLANE1 G>A	5	37230994	37230994	G	A	CPLANE1	c.1096C>T	NM_023073.3	NP_075561.3:p.(Pro366Ser)	NC_000005.9:g.37230994G>A	VUS	2 labs	86e3f1f734
9:107558415 ABCA1 A>G	9	107558415	107558415	A	G	ABCA1	c.5301T>C	NM_005502.4	NP_005493.2:p.(Tyr1767=)	NC_000009.11:g.107558415A>G	(Likely) benign	2 labs	86e1026fa5
4:1803138 FGFR3 C>G	4	1803138	1803138	C	G	FGFR3	c.490C>G	NM_000142.4	NP_000133.1:p.(Leu164Val)	NC_000004.11:g.1803138C>G	(Likely) benign	2 labs	86ec4f458e
17:78092118 GAA C>T	17	78092118	78092118	C	T	GAA	c.2608C>T	NM_000152.3	NP_000143.2:p.(Arg870Ter)	NC_000017.10:g.78092118C>T	(Likely) pathogenic	3 labs	86f38ef2d4
17:1630886 WDR81 C>T	17	1630886	1630886	C	T	WDR81	c.2633C>T	NM_001163809.2	NP_001157281.1:p.(Pro878Leu)	NC_000017.10:g.1630886C>T	VUS	2 labs	86f91ec463
12:96374381 HAL C>A	12	96374381	96374381	C	A	HAL	c.1472G>T	NM_002108.3	NP_002099.1:p.(Gly491Val)	NC_000012.11:g.96374381C>A	VUS	2 labs	870429cad6
X:70468555 ZMYM3 C>T	X	70468555	70468555	C	T	ZMYM3	c.1718G>A	NM_001171162.1	NP_001164633.1:p.(Ser573Asn)	NC_000023.10:g.70468555C>T	(Likely) benign	2 labs	8706cdfb3f
21:47754563 PCNT A>G	21	47754563	47754563	A	G	PCNT	c.520A>G	NM_006031.5	NP_006022.3:p.(Ile174Val)	NC_000021.8:g.47754563A>G	(Likely) benign	2 labs	870ae83301
15:72638659 HEXA A>G	15	72638659	72638659	A	G	HEXA	c.1338T>C	NM_000520.6	NP_000511.2:p.(Pro446=)	NC_000015.9:g.72638659A>G	(Likely) benign	2 labs	870ca57a3e
16:15857705 MYH11 G>A	16	15857705	15857705	G	A	MYH11	c.1098C>T	NM_001040113.1	NP_001035202.1:p.(Ile366=)	NC_000016.9:g.15857705G>A	(Likely) benign	2 labs	870f576388
4:1806272 FGFR3 C>T	4	1806272	1806272	C	T	FGFR3	c.1266+25C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806272C>T	(Likely) benign	2 labs	8711e2d3cb
8:133899190 TG G>A	8	133899190	133899190	G	A	TG	c.1573G>A	NM_003235.5	NP_003226.4:p.(Gly525Arg)	NC_000008.10:g.133899190G>A	(Likely) benign	2 labs	871222a143
15:48782270 FBN1 G>A	15	48782270	48782270	G	A	FBN1	c.2860C>T	NM_000138.5	NP_000129.3:p.(Arg954Cys)	NC_000015.9:g.48782270G>A	(Likely) pathogenic	4 labs	fb951ed800
17:27068158 NEK8 C>T	17	27068158	27068158	C	T	NEK8	c.1795C>T	NM_178170.3	NP_835464.1:p.(Arg599Ter)	NC_000017.10:g.27068158C>T	(Likely) pathogenic	3 labs	871c601ab4
12:6631204 NCAPD2 G>A	12	6631204	6631204	G	A	NCAPD2	c.1954+1G>A	NM_014865.4	NP_055680.3:p.?	NC_000012.11:g.6631204G>A	(Likely) pathogenic	2 labs	871fc07565
2:173352458 ITGA6 C>G	2	173352458	173352458	C	G	ITGA6	c.2247C>G	NM_000210.4	NP_000201.2:p.(Val749=)	NC_000002.11:g.173352458C>G	(Likely) benign	2 labs	fb9d055d7a
17:43366592 MAP3K14 C>T	17	43366592	43366592	C	T	MAP3K14	c.326+10G>A	NM_003954.5	NP_003945.2:p.?	NC_000017.10:g.43366592C>T	(Likely) benign	2 labs	8721fc9b63
16:51175584 SALL1 T>C	16	51175584	51175584	T	C	SALL1	c.258A>G	NM_001127892.1	NP_001121364.1:p.(Thr86=)	NC_000016.9:g.51175584T>C	(Likely) benign	2 labs	87281efe19
4:79428642 FRAS1 C>T	4	79428642	79428642	C	T	FRAS1	c.9384C>T	NM_025074.7	NP_079350.5:p.(Phe3128=)	NC_000004.11:g.79428642C>T	(Likely) benign	2 labs	872ac040ed
6:49425521 MMUT C>T	6	49425521	49425521	C	T	MMUT	c.636G>A	NM_000255.4	NP_000246.2:p.(Lys212=)	NC_000006.11:g.49425521C>T	(Likely) benign	3 labs	fba4b47f33
8:61714146 CHD7 A>T	8	61714146	61714146	A	T	CHD7				NC_000008.10:g.61714146A>T	(Likely) benign	2 labs	87311b80fa
X:100653412 GLA G>A	X	100653412	100653412	G	A	GLA	c.945C>T	NM_000169.3	NP_000160.1:p.(Asp315=)	NC_000023.10:g.100653412G>A	(Likely) benign	6 labs	8738788984
18:10787097 PIEZO2 T>C	18	10787097	10787097	T	C	PIEZO2	c.2255A>G	NM_022068.4	NP_071351.2:p.(Tyr752Cys)	NC_000018.9:g.10787097T>C	VUS	2 labs	fba70ffe9f
17:17697344 RAI1 C>T	17	17697344	17697344	C	T	RAI1	c.1082C>T	NM_030665.4	NP_109590.3:p.(Ser361Leu)	NC_000017.10:g.17697344C>T	(Likely) benign	2 labs	8740ce59b6
22:37538521 IL2RB C>T	22	37538521	37538521	C	T	IL2RB	c.235G>A	NM_001346222.1	NP_001333151.1:p.(Val79Met)	NC_000022.10:g.37538521C>T	(Likely) benign	2 labs	873f922e47
12:2760898 CACNA1C C>T	12	2760898	2760898	C	T	CACNA1C	c.4038C>T	NM_000719.7	NP_000710.5:p.(Ile1346=)	NC_000012.11:g.2760898C>T	(Likely) benign	3 labs	fba90cd118
X:153608724 EMD C>T	X	153608724	153608724	C	T	EMD	c.396C>T	NM_000117.3	NP_000108.1:p.(His132=)	NC_000023.10:g.153608724C>T	(Likely) benign	3 labs	873f9415ea
17:41215920 BRCA1 G>A	17	41215920	41215920	G	A	BRCA1	c.5123C>T	NM_007294.3	NP_009225.1:p.(Ala1708Val)	NC_000017.10:g.41215920G>A	VUS	2 labs	87469a7963
1:220330767 RAB3GAP2 C>T	1	220330767	220330767	C	T	RAB3GAP2	c.3400G>A	NM_012414.3	NP_036546.2:p.(Val1134Met)	NC_000001.10:g.220330767C>T	VUS	2 labs	87500acba9
1:197113073 ASPM G>A	1	197113073	197113073	G	A	ASPM	c.441+14C>T	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197113073G>A	(Likely) benign	3 labs	8756b33d63
10:123276825 FGFR2 G>A	10	123276825	123276825	G	A	FGFR2	c.1084+8C>T	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123276825G>A	(Likely) benign	2 labs	875aba9e24
1:231114915 ARV1 A>T	1	231114915	231114915	A	T	ARV1	c.64A>T	NM_022786.2	NP_073623.1:p.(Thr22Ser)	NC_000001.10:g.231114915A>T	(Likely) benign	2 labs	8766bc24c1
19:50365370 PNKP G>A	19	50365370	50365370	G	A	PNKP	c.1127-8C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365370G>A	(Likely) benign	4 labs	876bee78a1
9:133932415 LAMC3 C>T	9	133932415	133932415	C	T	LAMC3	c.2039C>T	NM_006059.3	NP_006050.3:p.(Thr680Met)	NC_000009.11:g.133932415C>T	(Likely) benign	2 labs	876d450364
10:73566027 CDH23 G>C	10	73566027	73566027	G	C	CDH23	c.8167G>C	NM_022124.5	NP_071407.4:p.(Val2723Leu)	NC_000010.10:g.73566027G>C	(Likely) benign	2 labs	8770e3db17
17:29657372 NF1 G>C	17	29657372	29657372	G	C	NF1	c.5605G>C	NM_000267.3	NP_000258.1:p.(Gly1869Arg)	NC_000017.10:g.29657372G>C	VUS	2 labs	877126bcf6
2:228118345 COL4A3 T>A	2	228118345	228118345	T	A	COL4A3	c.756T>A	NM_000091.4	NP_000082.2:p.(Asp252Glu)	NC_000002.11:g.228118345T>A	(Likely) benign	4 labs	8771efe8a4
5:37153871 CPLANE1 G>T	5	37153871	37153871	G	T	CPLANE1	c.8182C>A	NM_023073.3	NP_075561.3:p.(Pro2728Thr)	NC_000005.9:g.37153871G>T	(Likely) benign	3 labs	87751664ae
5:45695956 HCN1 G>T	5	45695956	45695956	G	T	HCN1	c.240C>A	NM_021072.3	NP_066550.2:p.(Gly80=)	NC_000005.9:g.45695956G>T	(Likely) benign	2 labs	8780aa7e11
13:51530586 RNASEH2B T>TA	13	51530586	51530596	T	TA	RNASEH2B	c.925dup	NM_024570.4	NP_078846.2:p.(Ile309AsnfsTer8)	NC_000013.10:g.51530596dup	(Likely) benign	4 labs	878a5ea94b
17:78157811 CARD14 T>G	17	78157811	78157811	T	G	CARD14	c.449T>G	NM_001366385.1	NP_001353314.1:p.(Leu150Arg)	NC_000017.10:g.78157811T>G	(Likely) benign	2 labs	878365a32a
2:179529615 TTN C>G	2	179529615	179529615	C	G	TTN	c.36082G>C	NM_001267550.2	NP_001254479.2:p.(Val12028Leu)	NC_000002.11:g.179529615C>G	(Likely) benign	3 labs	8782691ebf
3:38645441 SCN5A G>A	3	38645441	38645441	G	A	SCN5A	c.1652C>T	NM_001099404.2	NP_001092874.1:p.(Ala551Val)	NC_000003.11:g.38645441G>A	VUS	2 labs	87963ef8d1
17:33497237 UNC45B A>G	17	33497237	33497237	A	G	UNC45B	c.1652A>G	NM_001033576.1	NP_001028748.1:p.(Asp551Gly)	NC_000017.10:g.33497237A>G	VUS	2 labs	879516f0a6
17:44073889 MAPT A>G	17	44073889	44073889	A	G	MAPT	c.1686A>G	NM_001123066.4	NP_001116538.2:p.(Ala562=)	NC_000017.10:g.44073889A>G	(Likely) benign	3 labs	879221f772
11:32450067 WT1 G>A	11	32450067	32450067	G	A	WT1	c.760C>T	NM_024426.6	NP_077744.4:p.(Pro254Ser)	NC_000011.9:g.32450067G>A	(Likely) benign	3 labs	87a69cfd06
2:207003310 NDUFS1 G>C	2	207003310	207003310	G	C	NDUFS1	c.1291C>G	NM_005006.7	NP_004997.4:p.(Leu431Val)	NC_000002.11:g.207003310G>C	(Likely) benign	3 labs	fbb13de7db
3:9979696 CRELD1 C>T	3	9979696	9979696	C	T	CRELD1	c.369-3C>T	NM_015513.4	NP_056328.2:p.?	NC_000003.11:g.9979696C>T	(Likely) benign	3 labs	87ab55b5bc
1:43393383 SLC2A1 C>T	1	43393383	43393383	C	T	SLC2A1	c.1171G>A	NM_006516.4	NP_006507.2:p.(Val391Met)	NC_000001.10:g.43393383C>T	(Likely) benign	2 labs	fbb60ab786
13:77566424 CLN5 C>T	13	77566424	77566424	C	T	CLN5	c.173+18C>T	NM_001366624.2	NP_001353553.1:p.?	NC_000013.10:g.77566424C>T	(Likely) benign	4 labs	87ad447a5f
19:6495589 TUBB4A G>A	19	6495589	6495589	G	A	TUBB4A	c.921C>T	NM_006087.4	NP_006078.2:p.(His307=)	NC_000019.9:g.6495589G>A	(Likely) benign	2 labs	87bf4ce9ed
9:126132728 CRB2 C>T	9	126132728	126132728	C	T	CRB2	c.1396C>T	NM_173689.6	NP_775960.4:p.(Arg466Cys)	NC_000009.11:g.126132728C>T	VUS	2 labs	87c6f4e16d
17:18023897 MYO15A G>A	17	18023897	18023897	G	A	MYO15A	c.1783G>A	NM_016239.4	NP_057323.3:p.(Ala595Thr)	NC_000017.10:g.18023897G>A	(Likely) benign	3 labs	87d3fd17b8
15:66995716 SMAD6 C>T	15	66995716	66995716	C	T	SMAD6	c.120C>T	NM_005585.4	NP_005576.3:p.(Gly40=)	NC_000015.9:g.66995716C>T	(Likely) benign	3 labs	87d5927bd9
8:100568723 VPS13B C>T	8	100568723	100568723	C	T	VPS13B	c.4866C>T	NM_017890.4	NP_060360.3:p.(Ile1622=)	NC_000008.10:g.100568723C>T	(Likely) benign	2 labs	87d67a37d0
1:94528736 ABCA4 T>C	1	94528736	94528736	T	C	ABCA4	c.1692A>G	NM_000350.3	NP_000341.2:p.(Pro564=)	NC_000001.10:g.94528736T>C	(Likely) benign	2 labs	87e10275f6
16:23649273 PALB2 G>T	16	23649273	23649273	G	T	PALB2	c.109C>A	NM_024675.3	NP_078951.2:p.(Arg37Ser)	NC_000016.9:g.23649273G>T	VUS	2 labs	87dd0f6932
1:183529339 NCF2 G>A	1	183529339	183529339	G	A	NCF2	c.1360C>T	NM_000433.3	NP_000424.2:p.(Pro454Ser)	NC_000001.10:g.183529339G>A	(Likely) benign	2 labs	87e225b875
20:62126185 EEF1A2 A>G	20	62126185	62126185	A	G	EEF1A2	c.594T>C	NM_001958.5	NP_001949.1:p.(Gly198=)	NC_000020.10:g.62126185A>G	(Likely) benign	2 labs	fbc7bedc40
1:241675406 FH A>C	1	241675406	241675406	A	C	FH	c.416T>G	NM_000143.4	NP_000134.2:p.(Val139Gly)	NC_000001.10:g.241675406A>C	VUS	2 labs	fbcb3cbe4c
X:54971921 PFKFB1 A>T	X	54971921	54971921	A	T	PFKFB1	c.1049T>A	NM_002625.3	NP_002616.2:p.(Phe350Tyr)	NC_000023.10:g.54971921A>T	(Likely) benign	2 labs	87fb3e7245
X:152034497 NSDHL C>T	X	152034497	152034497	C	T	NSDHL	c.678C>T	NM_015922.3	NP_057006.1:p.(Phe226=)	NC_000023.10:g.152034497C>T	(Likely) benign	2 labs	880266c7df
8:48812982 PRKDC C>A	8	48812982	48812982	C	A	PRKDC	c.3315G>T	NM_006904.6	NP_008835.5:p.(Val1105=)	NC_000008.10:g.48812982C>A	(Likely) benign	2 labs	88041c5430
1:197108974 ASPM G>C	1	197108974	197108974	G	C	ASPM	c.1949C>G	NM_018136.5	NP_060606.3:p.(Ser650Cys)	NC_000001.10:g.197108974G>C	(Likely) benign	2 labs	88131aea6a
14:23865902 MYH6 C>A	14	23865902	23865902	C	A	MYH6	c.2292+1G>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23865902C>A	VUS	4 labs	fbcef60765
9:133573596 EXOSC2 G>A	9	133573596	133573596	G	A	EXOSC2	c.318G>A	NM_014285.7	NP_055100.2:p.(Ser106=)	NC_000009.11:g.133573596G>A	(Likely) benign	2 labs	88118ec8b1
2:149226880 MBD5 G>T	2	149226880	149226880	G	T	MBD5	c.1368G>T	NM_018328.5	NP_060798.2:p.(Ser456=)	NC_000002.11:g.149226880G>T	(Likely) benign	2 labs	8815508d5b
6:42946358 PEX6 T>G	6	42946358	42946358	T	G	PEX6	c.531A>C	NM_000287.4	NP_000278.3:p.(Pro177=)	NC_000006.11:g.42946358T>G	(Likely) benign	2 labs	8816bc2c2c
4:1805473 FGFR3 G>A	4	1805473	1805473	G	A	FGFR3	c.985G>A	NM_000142.4	NP_000133.1:p.(Val329Ile)	NC_000004.11:g.1805473G>A	VUS	2 labs	8826d79a7b
9:123163053 CDK5RAP2 G>A	9	123163053	123163053	G	A	CDK5RAP2	c.5418C>T	NM_018249.5	NP_060719.4:p.(Pro1806=)	NC_000009.11:g.123163053G>A	(Likely) benign	2 labs	882c380347
3:46939575 PTH1R C>A	3	46939575	46939575	C	A	PTH1R	c.436C>A	NM_000316.2	NP_000307.1:p.(Arg146=)	NC_000003.11:g.46939575C>A	(Likely) benign	2 labs	883016d379
2:179514922 TTN T>C	2	179514922	179514922	T	C	TTN	c.39786A>G	NM_001267550.2	NP_001254479.2:p.(Glu13262=)	NC_000002.11:g.179514922T>C	(Likely) benign	2 labs	88372ba18a
21:46876677 COL18A1 C>A	21	46876677	46876677	C	A	COL18A1	c.1233C>A	NM_130444.3	NP_569711.2:p.(Phe411Leu)	NC_000021.8:g.46876677C>A	VUS	2 labs	8835c88ed4
X:22231074 PHEX C>T	X	22231074	22231074	C	T	PHEX	c.1699C>T	NM_000444.5	NP_000435.3:p.(Arg567Ter)	NC_000023.10:g.22231074C>T	(Likely) pathogenic	2 labs	8836df0537
2:170127524 LRP2 G>A	2	170127524	170127524	G	A	LRP2	c.2210C>T	NM_004525.3	NP_004516.2:p.(Ser737Leu)	NC_000002.11:g.170127524G>A	VUS	2 labs	883a35c64e
X:13779341 OFD1 C>T	X	13779341	13779341	C	T	OFD1	c.2387+11C>T	NM_003611.2	NP_003602.1:p.?	NC_000023.10:g.13779341C>T	(Likely) benign	2 labs	883c8f4689
7:21628237 DNAH11 C>T	7	21628237	21628237	C	T	DNAH11	c.1956C>T	NM_001277115.2	NP_001264044.1:p.(Phe652=)	NC_000007.13:g.21628237C>T	(Likely) benign	2 labs	88483e87a9
1:36933198 CSF3R G>A	1	36933198	36933198	G	A	CSF3R	c.1919C>T	NM_000760.4	NP_000751.1:p.(Thr640Ile)	NC_000001.10:g.36933198G>A	(Likely) benign	2 labs	fbd51daf73
2:182413602 CERKL A>T	2	182413602	182413602	A	T	CERKL	c.974-18T>A	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182413602A>T	(Likely) benign	3 labs	884d02b349
3:142215233 ATR G>A	3	142215233	142215233	G	A	ATR	c.5868C>T	NM_001184.3	NP_001175.2:p.(Tyr1956=)	NC_000003.11:g.142215233G>A	(Likely) benign	3 labs	8850b02bf7
11:103153788 DYNC2H1 C>A	11	103153788	103153788	C	A	DYNC2H1	c.10885C>A	NM_001080463.1	NP_001073932.1:p.(Arg3629=)	NC_000011.9:g.103153788C>A	(Likely) benign	2 labs	8850c89f80
14:105415607 AHNAK2 C>G	14	105415607	105415607	C	G	AHNAK2	c.6181G>C	NM_138420.4	NP_612429.2:p.(Val2061Leu)	NC_000014.8:g.105415607C>G	(Likely) benign	2 labs	885cef2e26
3:58417610 PDHB T>C	3	58417610	58417610	T	C	PDHB	c.198A>G	NM_000925.4	NP_000916.2:p.(Ala66=)	NC_000003.11:g.58417610T>C	(Likely) benign	2 labs	885d7b1d5a
3:195789515 TFRC C>T	3	195789515	195789515	C	T	TFRC	c.1406G>A	NM_003234.3	NP_003225.2:p.(Gly469Glu)	NC_000003.11:g.195789515C>T	VUS	2 labs	885f0520a0
14:50101682 DNAAF2 C>G	14	50101682	50101682	C	G	DNAAF2	c.186G>C	NM_018139.3	NP_060609.2:p.(Glu62Asp)	NC_000014.8:g.50101682C>G	(Likely) benign	2 labs	8862fa5520
16:2112941 TSC2 C>G	16	2112941	2112941	C	G	TSC2	c.1362-32C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112941C>G	(Likely) benign	2 labs	8865385596
3:99998531 TBC1D23 G>C	3	99998531	99998531	G	C	TBC1D23	c.92G>C	NM_001199198.3	NP_001186127.1:p.(Cys31Ser)	NC_000003.11:g.99998531G>C	(Likely) benign	3 labs	886a8f5a1c
12:106895104 POLR3B G>T	12	106895104	106895104	G	T	POLR3B	c.2988G>T	NM_018082.6	NP_060552.4:p.(Glu996Asp)	NC_000012.11:g.106895104G>T	VUS	2 labs	fbda5aaeed
4:151773853 LRBA A>T	4	151773853	151773853	A	T	LRBA	c.3009T>A	NM_006726.4	NP_006717.2:p.(Ser1003=)	NC_000004.11:g.151773853A>T	(Likely) benign	2 labs	886e213244
2:27695215 IFT172 C>T	2	27695215	27695215	C	T	IFT172	c.1426G>A	NM_015662.2	NP_056477.1:p.(Gly476Ser)	NC_000002.11:g.27695215C>T	VUS	2 labs	887d6d5ded
9:137704329 COL5A1 C>T	9	137704329	137704329	C	T	COL5A1	c.3725C>T	NM_000093.5	NP_000084.3:p.(Thr1242Ile)	NC_000009.11:g.137704329C>T	VUS	4 labs	8881c7badf
11:124756982 ROBO4 G>A	11	124756982	124756982	G	A	ROBO4	c.2326C>T	NM_019055.6	NP_061928.4:p.(Arg776Cys)	NC_000011.9:g.124756982G>A	(Likely) benign	3 labs	887e282e21
16:75589922 TMEM231 G>T	16	75589922	75589922	G	T	TMEM231	c.248C>A	NM_001077416.2	NP_001070884.2:p.(Ser83Ter)	NC_000016.9:g.75589922G>T	(Likely) pathogenic	2 labs	888c324a0c
X:15343134 PIGA C>T	X	15343134	15343134	C	T	PIGA	c.981+8G>A	NM_002641.3	NP_002632.1:p.?	NC_000023.10:g.15343134C>T	(Likely) benign	2 labs	888ecfea6a
15:38614538 SPRED1 AC>A	15	38614538	38614539	AC	A	SPRED1	c.305del	NM_152594.3	NP_689807.1:p.(Thr102SerfsTer19)	NC_000015.9:g.38614539del	(Likely) pathogenic	2 labs	8893f4a3e6
2:241814562 AGXT C>T	2	241814562	241814562	C	T	AGXT	c.717C>T	NM_000030.2	NP_000021.1:p.(Ser239=)	NC_000002.11:g.241814562C>T	(Likely) benign	2 labs	8895f5eff9
4:15529187 CC2D2A C>T	4	15529187	15529187	C	T	CC2D2A	c.1267C>T	NM_001080522.2	NP_001073991.2:p.(Arg423Ter)	NC_000004.11:g.15529187C>T	(Likely) pathogenic	2 labs	889650f0ec
2:202505638 TMEM237 G>A	2	202505638	202505638	G	A	TMEM237	c.28C>T	NM_152388.3	NP_689601.2:p.(Arg10Ter)	NC_000002.11:g.202505638G>A	(Likely) pathogenic	4 labs	889ee45baf
14:94847404 SERPINA1 T>A	14	94847404	94847404	T	A	SERPINA1	c.721A>T	NM_001127701.2	NP_001121173.1:p.(Lys241Ter)	NC_000014.8:g.94847404T>A	(Likely) pathogenic	2 labs	88a494699d
15:99467220 IGF1R A>G	15	99467220	99467220	A	G	IGF1R	c.2601A>G	NM_000875.4	NP_000866.1:p.(Ile867Met)	NC_000015.9:g.99467220A>G	VUS	2 labs	88aab07286
2:44527228 SLC3A1 C>T	2	44527228	44527228	C	T	SLC3A1	c.1010C>T	NM_000341.3	NP_000332.2:p.(Pro337Leu)	NC_000002.11:g.44527228C>T	VUS	2 labs	88b128a489
17:66303721 ARSG G>A	17	66303721	66303721	G	A	ARSG	c.87G>A	NM_014960.5	NP_055775.2:p.(Gly29=)	NC_000017.10:g.66303721G>A	(Likely) benign	2 labs	88b6f37830
1:152275688 FLG G>A	1	152275688	152275688	G	A	FLG	c.11674C>T	NM_002016.1	NP_002007.1:p.(Arg3892Trp)	NC_000001.10:g.152275688G>A	(Likely) benign	3 labs	88c64b7833
18:7033010 LAMA1 C>A	18	7033010	7033010	C	A	LAMA1	c.2136G>T	NM_005559.4	NP_005550.2:p.(Pro712=)	NC_000018.9:g.7033010C>A	(Likely) benign	2 labs	88c699462e
11:71906438 FOLR1 C>T	11	71906438	71906438	C	T	FOLR1	c.292C>T	NM_016724.3	NP_057936.1:p.(Arg98Trp)	NC_000011.9:g.71906438C>T	(Likely) benign	3 labs	88da99edfd
14:31348036 COCH G>T	14	31348036	31348036	G	T	COCH	c.259G>T	NM_001135058.1	NP_001128530.1:p.(Gly87Trp)	NC_000014.8:g.31348036G>T	(Likely) pathogenic	2 labs	88d2c0232c
10:13325784 PHYH C>T	10	13325784	13325784	C	T	PHYH	c.734G>A	NM_006214.4	NP_006205.1:p.(Arg245Gln)	NC_000010.10:g.13325784C>T	(Likely) benign	3 labs	fbf57a8298
1:161771868 ATF6 A>G	1	161771868	161771868	A	G	ATF6	c.715A>G	NM_007348.4	NP_031374.2:p.(Thr239Ala)	NC_000001.10:g.161771868A>G	(Likely) benign	2 labs	88e26c68d9
22:17589283 IL17RA G>T	22	17589283	17589283	G	T	IL17RA	c.1174G>T	NM_014339.7	NP_055154.3:p.(Val392Leu)	NC_000022.10:g.17589283G>T	VUS	2 labs	88ec5a0653
2:179400287 TTN A>G	2	179400287	179400287	A	G	TTN	c.101055T>C	NM_001267550.1	NP_001254479.1:p.(Asp33685=)	NC_000002.11:g.179400287A>G	(Likely) benign	2 labs	88e8eda4d1
2:84670490 SUCLG1 C>T	2	84670490	84670490	C	T	SUCLG1	c.236G>A	NM_003849.4	NP_003840.2:p.(Gly79Asp)	NC_000002.11:g.84670490C>T	VUS	2 labs	88f24793c8
4:56831855 CEP135 C>T	4	56831855	56831855	C	T	CEP135	c.874C>T	NM_025009.5	NP_079285.2:p.(Arg292Ter)	NC_000004.11:g.56831855C>T	(Likely) pathogenic	5 labs	88f46c63ba
13:23910850 SACS C>T	13	23910850	23910850	C	T	SACS	c.7165G>A	NM_014363.6	NP_055178.3:p.(Val2389Met)	NC_000013.10:g.23910850C>T	(Likely) benign	2 labs	88f4c51f45
16:2141018 PKD1 C>T	16	2141018	2141018	C	T	PKD1	c.11870G>A	NM_001009944.2	NP_001009944.2:p.(Gly3957Asp)	NC_000016.9:g.2141018C>T	(Likely) benign	3 labs	88fa43f933
3:135969299 PCCB C>G	3	135969299	135969299	C	G	PCCB	c.82C>G	NM_001178014.1	NP_001171485.1:p.(Leu28Val)	NC_000003.11:g.135969299C>G	(Likely) benign	2 labs	89027750ce
8:144992393 PLEC G>A	8	144992393	144992393	G	A	PLEC	c.11677C>T	NM_000445.5	NP_000436.2:p.(Arg3893Cys)	NC_000008.10:g.144992393G>A	VUS	2 labs	890a90cd57
6:135754208 AHI1 A>G	6	135754208	135754208	A	G	AHI1	c.2223T>C	NM_001134831.1	NP_001128303.1:p.(Asp741=)	NC_000006.11:g.135754208A>G	(Likely) benign	2 labs	891091befd
9:13188803 MPDZ C>T	9	13188803	13188803	C	T	MPDZ	c.2344G>A	NM_003829.4	NP_003820.2:p.(Gly782Arg)	NC_000009.11:g.13188803C>T	(Likely) benign	3 labs	8911850563
9:14842559 FREM1 C>T	9	14842559	14842559	C	T	FREM1	c.1493G>A	NM_144966.5	NP_659403.4:p.(Arg498Gln)	NC_000009.11:g.14842559C>T	VUS	2 labs	89163e7bfb
1:197062286 ASPM G>A	1	197062286	197062286	G	A	ASPM	c.9190C>T	NM_018136.4	NP_060606.3:p.(Arg3064Ter)	NC_000001.10:g.197062286G>A	(Likely) pathogenic	3 labs	891a7daee3
11:47362796 MYBPC3 C>T	11	47362796	47362796	C	T	MYBPC3	c.1791-1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362796C>T	(Likely) pathogenic	2 labs	8927a621e5
1:119427839 TBX15 C>T	1	119427839	119427839	C	T	TBX15	c.1325G>A	NM_001330677.2	NP_001317606.1:p.(Arg442Lys)	NC_000001.10:g.119427839C>T	VUS	2 labs	892c378c8a
11:66468469 SPTBN2 A>G	11	66468469	66468469	A	G	SPTBN2	c.3101T>C	NM_006946.4	NP_008877.2:p.(Val1034Ala)	NC_000011.9:g.66468469A>G	(Likely) benign	2 labs	8931075149
1:120459167 NOTCH2 G>A	1	120459167	120459167	G	A	NOTCH2	c.6178C>T	NM_024408.3	NP_077719.2:p.(Arg2060Cys)	NC_000001.10:g.120459167G>A	VUS	2 labs	892e41f24f
X:99905874 SRPX2 T>C	X	99905874	99905874	T	C	SRPX2	c.163+12T>C	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99905874T>C	(Likely) benign	2 labs	893487a6a2
17:56435885 RNF43 G>T	17	56435885	56435885	G	T	RNF43	c.1252C>A	NM_017763.6	NP_060233.3:p.(Leu418Met)	NC_000017.10:g.56435885G>T	(Likely) benign	2 labs	8940ff3d5c
11:66637890 PC C>A	11	66637890	66637890	C	A	PC	c.786G>T	NM_001040716.1	NP_001035806.1:p.(Glu262Asp)	NC_000011.9:g.66637890C>A	VUS	2 labs	89481b45d3
12:88500847 CEP290 T>C	12	88500847	88500847	T	C	CEP290	c.2512A>G	NM_025114.3	NP_079390.3:p.(Lys838Glu)	NC_000012.11:g.88500847T>C	(Likely) benign	2 labs	894c1a95fd
9:137726886 COL5A1 G>A	9	137726886	137726886	G	A	COL5A1	c.5206G>A	NM_000093.4	NP_000084.3:p.(Ala1736Thr)	NC_000009.11:g.137726886G>A	VUS	2 labs	8952c9cec0
5:179251197 SQSTM1 C>T	5	179251197	179251197	C	T	SQSTM1	c.295C>T	NM_001142298.1	NP_001135770.1:p.(Arg99Cys)	NC_000005.9:g.179251197C>T	VUS	2 labs	89600332b4
15:23890528 MAGEL2 T>A	15	23890528	23890528	T	A	MAGEL2	c.2362A>T	NM_019066.4	NP_061939.3:p.(Ser788Cys)	NC_000015.9:g.23890528T>A	VUS	2 labs	89628d2ccb
1:152276377 FLG C>G	1	152276377	152276377	C	G	FLG	c.10985G>C	NM_002016.1	NP_002007.1:p.(Ser3662Thr)	NC_000001.10:g.152276377C>G	(Likely) benign	2 labs	8965b9ab92
8:100729386 VPS13B A>AT	8	100729386	100729395	A	AT	VPS13B	c.6530-4dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100729395dup	(Likely) benign	2 labs	89662f98ef
1:27697359 FCN3 C>G	1	27697359	27697359	C	G	FCN3	c.498G>C	NM_003665.2	NP_003656.2:p.(Glu166Asp)	NC_000001.10:g.27697359C>G	(Likely) benign	2 labs	896dac2939
1:53668099 CPT2 C>T	1	53668099	53668099	C	T	CPT2	c.338C>T	NM_000098.3	NP_000089.1:p.(Ser113Leu)	NC_000001.10:g.53668099C>T	(Likely) pathogenic	4 labs	fc1625a2ae
22:20779946 SCARF2 C>G	22	20779946	20779946	C	G	SCARF2	c.2335=	NM_153334.7	NP_699165.3:p.(Leu779=)	NC_000022.10:g.20779946C>G	(Likely) benign	2 labs	fc17bef8c4
16:30992057 SETD1A CAG>C	16	30992057	30992059	CAG	C	SETD1A	c.4582-2_4582-1del	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30992058_30992059del	(Likely) pathogenic	3 labs	896fcc7e09
17:29550550 NF1 T>C	17	29550550	29550550	T	C	NF1	c.1810T>C	NM_000267.3	NP_000258.1:p.(Leu604=)	NC_000017.10:g.29550550T>C	(Likely) benign	3 labs	8979d0336f
X:41448750 CASK A>G	X	41448750	41448750	A	G	CASK	c.1233+18T>C	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41448750A>G	(Likely) benign	2 labs	89862bf56a
8:1900855 ARHGEF10 A>G	8	1900855	1900855	A	G	ARHGEF10	c.3398-16A>G	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1900855A>G	(Likely) benign	2 labs	fc1b22be70
5:147207616 SPINK1 G>A	5	147207616	147207616	G	A	SPINK1	c.163C>T	NM_003122.4	NP_003113.2:p.(Pro55Ser)	NC_000005.9:g.147207616G>A	(Likely) benign	2 labs	8988e3b5ca
7:99699580 AP4M1 C>G	7	99699580	99699580	C	G	AP4M1	c.136C>G	NM_004722.3	NP_004713.2:p.(Pro46Ala)	NC_000007.13:g.99699580C>G	VUS	3 labs	8990584353
2:179579035 TTN G>C	2	179579035	179579035	G	C	TTN	c.26466C>G	NM_001267550.2	NP_001254479.2:p.(Ala8822=)	NC_000002.11:g.179579035G>C	(Likely) benign	4 labs	89888bc814
1:11918379 NPPB C>A	1	11918379	11918379	C	A	NPPB	c.280G>T	NM_002521.3	NP_002512.1:p.(Val94Phe)	NC_000001.10:g.11918379C>A	(Likely) benign	2 labs	8992a246fe
11:6636687 TPP1 G>A	11	6636687	6636687	G	A	TPP1	c.1252C>T	NM_000391.3	NP_000382.3:p.(Arg418Trp)	NC_000011.9:g.6636687G>A	VUS	2 labs	89a489e491
13:32972280 BRCA2 G>A	13	32972280	32972280	G	A	BRCA2	c.9649-19G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972280G>A	(Likely) benign	6 labs	89a3d9416d
19:6826729 VAV1 G>A	19	6826729	6826729	G	A	VAV1	c.927+7G>A	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6826729G>A	(Likely) benign	2 labs	89ad30362b
13:100637708 ZIC2 G>GGCGGCA	13	100637708	100637719	G	GGCGGCA	ZIC2	c.1377_1382dup	NM_007129.4	NP_009060.2:p.(Ala469_Ala470dup)	NC_000013.10:g.100637714_100637719dup	(Likely) benign	2 labs	89b72fb584
21:47786491 PCNT T>C	21	47786491	47786491	T	C	PCNT	c.2610-8T>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47786491T>C	(Likely) benign	2 labs	89b795e155
2:216289015 FN1 C>T	2	216289015	216289015	C	T	FN1	c.1070G>A	NM_212482.4	NP_997647.2:p.(Gly357Glu)	NC_000002.11:g.216289015C>T	(Likely) benign	3 labs	89b89845a6
X:135814308 ARHGEF6 C>T	X	135814308	135814308	C	T	ARHGEF6	c.685G>A	NM_004840.2	NP_004831.1:p.(Val229Ile)	NC_000023.10:g.135814308C>T	(Likely) benign	2 labs	89badf8391
1:161643026 FCGR2B G>A	1	161643026	161643026	G	A	FCGR2B	c.646+7G>A	NM_004001.4	NP_003992.3:p.?	NC_000001.10:g.161643026G>A	(Likely) benign	2 labs	89bdab8929
19:42879810 MEGF8 G>A	19	42879810	42879810	G	A	MEGF8	c.7421G>A	NM_001271938.2	NP_001258867.1:p.(Arg2474His)	NC_000019.9:g.42879810G>A	(Likely) benign	2 labs	89c3962f05
20:30408160 MYLK2 C>A	20	30408160	30408160	C	A	MYLK2	c.284C>A	NM_033118.3	NP_149109.1:p.(Ala95Glu)	NC_000020.10:g.30408160C>A	(Likely) benign	3 labs	89d1b7774a
12:40713901 LRRK2 T>A	12	40713901	40713901	T	A	LRRK2	c.4939T>A	NM_198578.4	NP_940980.4:p.(Ser1647Thr)	NC_000012.11:g.40713901T>A	(Likely) benign	2 labs	89ce34a0dd
9:123182202 CDK5RAP2 C>T	9	123182202	123182202	C	T	CDK5RAP2	c.4041G>A	NM_018249.5	NP_060719.4:p.(Leu1347=)	NC_000009.11:g.123182202C>T	(Likely) benign	2 labs	89d6b21889
8:61765995 CHD7 C>T	8	61765995	61765995	C	T	CHD7				NC_000008.10:g.61765995C>T	(Likely) benign	2 labs	89de614cfe
11:47364129 MYBPC3 C>G	11	47364129	47364129	C	G	MYBPC3	c.1624G>C	NM_000256.3	NP_000247.2:p.(Glu542Gln)	NC_000011.9:g.47364129C>G	(Likely) pathogenic	2 labs	89e09b0c1f
X:53115120 TSPYL2 G>A	X	53115120	53115120	G	A	TSPYL2	c.1546G>A	NM_022117.3	NP_071400.1:p.(Glu516Lys)	NC_000023.10:g.53115120G>A	VUS	2 labs	89e6e89970
13:37439889 SMAD9 C>T	13	37439889	37439889	C	T	SMAD9	c.788G>A	NM_001127217.2	NP_001120689.1:p.(Arg263Gln)	NC_000013.10:g.37439889C>T	(Likely) benign	2 labs	89e7b12632
9:79985181 VPS13A C>T	9	79985181	79985181	C	T	VPS13A	c.8676C>T	NM_033305.3	NP_150648.2:p.(Ile2892=)	NC_000009.11:g.79985181C>T	(Likely) benign	2 labs	fc24ce9999
11:118377025 KMT2A G>A	11	118377025	118377025	G	A	KMT2A	c.10418G>A	NM_001197104.1	NP_001184033.1:p.(Arg3473His)	NC_000011.9:g.118377025G>A	(Likely) benign	2 labs	89fbd1faac
3:142266582 ATR TATG>T	3	142266582	142266587	TATG	T	ATR	c.3339_3341del	NM_001184.4	NP_001175.2:p.(Ile1114del)	NC_000003.11:g.142266585_142266587del	VUS	2 labs	8a0195479a
11:47357412 MYBPC3 G>C	11	47357412	47357412	G	C	MYBPC3	c.2737+16C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357412G>C	(Likely) benign	2 labs	8a0abcbe2d
2:241712544 KIF1A G>A	2	241712544	241712544	G	A	KIF1A	c.1167C>T	NM_001244008.1	NP_001230937.1:p.(Gly389=)	NC_000002.11:g.241712544G>A	(Likely) benign	2 labs	8a123c9eae
5:37239957 CPLANE1 T>C	5	37239957	37239957	T	C	CPLANE1	c.692A>G	NM_023073.3	NP_075561.3:p.(His231Arg)	NC_000005.9:g.37239957T>C	(Likely) benign	2 labs	8a14ab88e9
6:152765726 SYNE1 GA>G	6	152765726	152765737	GA	G	SYNE1	c.3670-14del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152765737del	(Likely) benign	3 labs	8a11b8c826
9:133946849 LAMC3 C>CT	9	133946849	133946853	C	CT	LAMC3	c.3070-18dup	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133946853dup	(Likely) benign	2 labs	8a27d8aea6
9:137706723 COL5A1 C>T	9	137706723	137706723	C	T	COL5A1	c.3987C>T	NM_000093.5	NP_000084.3:p.(Pro1329=)	NC_000009.11:g.137706723C>T	(Likely) benign	2 labs	8a28b17a90
17:10297658 MYH8 A>G	17	10297658	10297658	A	G	MYH8	c.5074T>C	NM_002472.3	NP_002463.2:p.(Trp1692Arg)	NC_000017.10:g.10297658A>G	(Likely) benign	2 labs	fc2c1c8c7a
2:202093797 CASP10 C>T	2	202093797	202093797	C	T	CASP10	c.1557C>T	NM_032974.4	NP_116756.2:p.(Ser519=)	NC_000002.11:g.202093797C>T	(Likely) benign	2 labs	8a31774cdd
2:152955521 CACNB4 G>A	2	152955521	152955521	G	A	CACNB4	c.5C>T	NM_000726.4	NP_000717.2:p.(Ser2Phe)	NC_000002.11:g.152955521G>A	(Likely) benign	3 labs	8a37ffa129
1:47767914 STIL G>A	1	47767914	47767914	G	A	STIL	c.257C>T	NM_001048166.1	NP_001041631.1:p.(Ala86Val)	NC_000001.10:g.47767914G>A	(Likely) benign	3 labs	8a45bda4ab
2:150432976 MMADHC C>T	2	150432976	150432976	C	T	MMADHC	c.453G>A	NM_015702.3	NP_056517.1:p.(Gln151=)	NC_000002.11:g.150432976C>T	(Likely) benign	2 labs	fc2d3bd085
2:179485947 TTN G>A	2	179485947	179485947	G	A	TTN	c.45498C>T	NM_001267550.1	NP_001254479.1:p.(Asp15166=)	NC_000002.11:g.179485947G>A	(Likely) benign	2 labs	8a43532227
8:144991746 PLEC G>A	8	144991746	144991746	G	A	PLEC	c.12654C>T	NM_201380.4	NP_958782.1:p.(Thr4218=)	NC_000008.10:g.144991746G>A	(Likely) benign	3 labs	8a3da124e6
9:79853219 VPS13A G>A	9	79853219	79853219	G	A	VPS13A	c.1817G>A	NM_033305.3	NP_150648.2:p.(Arg606Lys)	NC_000009.11:g.79853219G>A	(Likely) benign	2 labs	8a45e8af63
11:65321383 LTBP3 G>A	11	65321383	65321383	G	A	LTBP3	c.662-9C>T	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65321383G>A	(Likely) benign	2 labs	8a48c1e7d0
2:109379977 RANBP2 A>T	2	109379977	109379977	A	T	RANBP2	c.2982A>T	NM_006267.4	NP_006258.3:p.(Ala994=)	NC_000002.11:g.109379977A>T	(Likely) benign	3 labs	8a4b30b4a3
13:32921064 BRCA2 A>T	13	32921064	32921064	A	T	BRCA2	c.7007+31A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32921064A>T	(Likely) benign	2 labs	8a4d8af1f1
5:149907735 NDST1 G>A	5	149907735	149907735	G	A	NDST1	c.883G>A	NM_001543.5	NP_001534.1:p.(Val295Met)	NC_000005.9:g.149907735G>A	VUS	2 labs	fc3181bbed
X:19560059 SH3KBP1 T>A	X	19560059	19560059	T	A	SH3KBP1	c.1876A>T	NM_031892.2	NP_114098.1:p.(Met626Leu)	NC_000023.10:g.19560059T>A	(Likely) benign	2 labs	8a4fa010c0
7:21818674 DNAH11 G>A	7	21818674	21818674	G	A	DNAH11				NC_000007.13:g.21818674G>A	(Likely) benign	2 labs	8a54331019
11:75277628 SERPINH1 A>G	11	75277628	75277628	A	G	SERPINH1	c.234A>G	NM_001207014.3	NP_001193943.1:p.(Leu78=)	NC_000011.9:g.75277628A>G	(Likely) benign	2 labs	fc39adc87b
2:1418192 TPO C>G	2	1418192	1418192	C	G	TPO	c.12C>G	NM_000547.6	NP_000538.3:p.(Leu4=)	NC_000002.11:g.1418192C>G	(Likely) benign	3 labs	8a65b51e81
1:43908654 SZT2 G>A	1	43908654	43908654	G	A	SZT2	c.8145G>A	NM_015284.3	NP_056099.3:p.(Thr2715=)	NC_000001.10:g.43908654G>A	(Likely) benign	2 labs	8a62477b0f
X:119582988 LAMP2 A>G	X	119582988	119582988	A	G	LAMP2	c.398-5T>C	NM_002294.2	NP_002285.1:p.?	NC_000023.10:g.119582988A>G	(Likely) benign	2 labs	8a644bb353
15:89865091 POLG G>A	15	89865091	89865091	G	A	POLG	c.2481-7C>T	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89865091G>A	(Likely) benign	4 labs	8a6a99588f
19:11326125 DOCK6 C>T	19	11326125	11326125	C	T	DOCK6	c.4044G>A	NM_020812.4	NP_065863.2:p.(Pro1348=)	NC_000019.9:g.11326125C>T	(Likely) benign	2 labs	fc3d638470
15:77320937 PSTPIP1 G>T	15	77320937	77320937	G	T	PSTPIP1	c.460G>T	NM_003978.5	NP_003969.2:p.(Ala154Ser)	NC_000015.9:g.77320937G>T	VUS	2 labs	fc4440adac
13:51528086 RNASEH2B A>G	13	51528086	51528086	A	G	RNASEH2B	c.787A>G	NM_024570.4	NP_078846.2:p.(Thr263Ala)	NC_000013.10:g.51528086A>G	VUS	3 labs	fc450ab0ef
5:180058761 FLT4 A>C	5	180058761	180058761	A	C	FLT4	c.76T>G	NM_182925.5	NP_891555.2:p.(Ser26Ala)	NC_000005.9:g.180058761A>C	(Likely) benign	3 labs	8a8700cb3d
X:153216900 HCFC1 C>T	X	153216900	153216900	C	T	HCFC1	c.5418G>A	NM_005334.3	NP_005325.2:p.(Met1806Ile)	NC_000023.10:g.153216900C>T	(Likely) benign	2 labs	8a8ed82cb9
1:10328338 KIF1B C>T	1	10328338	10328338	C	T	KIF1B	c.720+17C>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10328338C>T	(Likely) benign	2 labs	fc46e89232
19:13423537 CACNA1A G>A	19	13423537	13423537	G	A	CACNA1A	c.1617C>T	NM_023035.2	NP_075461.2:p.(Tyr539=)	NC_000019.9:g.13423537G>A	(Likely) benign	3 labs	8a91765c80
5:36995741 NIPBL G>T	5	36995741	36995741	G	T	NIPBL	c.3139G>T	NM_015384.4	NP_056199.2:p.(Val1047Leu)	NC_000005.9:g.36995741G>T	VUS	2 labs	8a91a51fce
1:237540742 RYR2 G>C	1	237540742	237540742	G	C	RYR2	c.576+7G>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237540742G>C	(Likely) benign	4 labs	fc46f093b7
18:48575235 SMAD4 G>A	18	48575235	48575235	G	A	SMAD4	c.424+5G>A	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48575235G>A	(Likely) benign	3 labs	8aac63cf3b
X:118221519 KIAA1210 G>A	X	118221519	118221519	G	A	KIAA1210	c.3674C>T	NM_020721.1	NP_065772.1:p.(Pro1225Leu)	NC_000023.10:g.118221519G>A	(Likely) benign	2 labs	8ab31c02ac
22:36684358 MYH9 C>A	22	36684358	36684358	C	A	MYH9	c.4872G>T	NM_002473.6	NP_002464.1:p.(Ala1624=)	NC_000022.10:g.36684358C>A	(Likely) benign	2 labs	fc4b1a547a
22:28194906 MN1 TTGCTGTTGCTGCTGCTGCTGC>T	22	28194906	28194953	TTGCTGTTGCTGCTGCTGCTGC	T	MN1	c.1605_1625del	NM_002430.3	NP_002421.3:p.(Gln544_Gln550del)	NC_000022.10:g.28194933_28194953del	(Likely) benign	2 labs	8ab9dced37
1:154560743 ADAR CAG>C	1	154560743	154560745	CAG	C	ADAR	c.2886-11_2886-10del	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154560744_154560745del	(Likely) benign	2 labs	8ab6dcc4d6
19:7184350 INSR G>A	19	7184350	7184350	G	A	INSR	c.951C>T	NM_000208.3	NP_000199.2:p.(Ser317=)	NC_000019.9:g.7184350G>A	(Likely) benign	2 labs	8aba3742c0
1:5964705 NPHP4 A>G	1	5964705	5964705	A	G	NPHP4	c.2115T>C	NM_015102.4	NP_055917.1:p.(Pro705=)	NC_000001.10:g.5964705A>G	(Likely) benign	2 labs	8abd391fb4
1:22181187 HSPG2 C>T	1	22181187	22181187	C	T	HSPG2	c.6208G>A	NM_001291860.1	NP_001278789.1:p.(Asp2070Asn)	NC_000001.10:g.22181187C>T	VUS	2 labs	8ac90b540d
15:41388111 INO80 A>G	15	41388111	41388111	A	G	INO80	c.159T>C	NM_017553.3	NP_060023.1:p.(Asp53=)	NC_000015.9:g.41388111A>G	(Likely) benign	2 labs	8ad916afc9
20:33033085 ITCH G>T	20	33033085	33033085	G	T	ITCH	c.1089-7G>T	NM_001257137.2	NP_001244066.1:p.?	NC_000020.10:g.33033085G>T	(Likely) benign	2 labs	8aeab15518
3:4508724 SUMF1 C>G	3	4508724	4508724	C	G	SUMF1	c.206G>C	NM_182760.3	NP_877437.2:p.(Arg69Pro)	NC_000003.11:g.4508724C>G	VUS	2 labs	8b914537cb
14:23853882 MYH6 G>A	14	23853882	23853882	G	A	MYH6	c.5334C>T	NM_002471.4	NP_002462.2:p.(Ser1778=)	NC_000014.8:g.23853882G>A	(Likely) benign	2 labs	fc4c3b6768
17:76128092 TMC8 G>A	17	76128092	76128092	G	A	TMC8	c.279G>A	NM_152468.4	NP_689681.2:p.(Gly93=)	NC_000017.10:g.76128092G>A	(Likely) benign	2 labs	8aed03a991
5:66055573 MAST4 C>T	5	66055573	66055573	C	T	MAST4	c.400C>T	NM_001164664.1	NP_001158136.1:p.(Arg134Trp)	NC_000005.9:g.66055573C>T	VUS	2 labs	8aedf9ebbf
1:215820991 USH2A C>T	1	215820991	215820991	C	T	USH2A	c.14664G>A	NM_206933.4	NP_996816.3:p.(Thr4888=)	NC_000001.10:g.215820991C>T	(Likely) benign	3 labs	8aecf9bde9
1:23219493 EPHB2 T>C	1	23219493	23219493	T	C	EPHB2	c.1545=	NM_004442.7	NP_004433.2:p.(Gly515=)	NC_000001.10:g.23219493T>C	(Likely) benign	2 labs	fc4e638ccf
2:179433046 TTN C>G	2	179433046	179433046	C	G	TTN	c.77813G>C	NM_001267550.2	NP_001254479.2:p.(Trp25938Ser)	NC_000002.11:g.179433046C>G	(Likely) benign	4 labs	8af89415a3
9:140953202 CACNA1B G>A	9	140953202	140953202	G	A	CACNA1B	c.4473+17G>A	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140953202G>A	(Likely) benign	2 labs	fc4f57f3b0
13:111109670 COL4A2 A>C	13	111109670	111109670	A	C	COL4A2	c.1340-20A>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109670A>C	(Likely) benign	3 labs	8b077b870a
2:8953411 KIDINS220 C>G	2	8953411	8953411	C	G	KIDINS220	c.361G>C	NM_001348738.1	NP_001335667.1:p.(Glu121Gln)	NC_000002.11:g.8953411C>G	(Likely) benign	2 labs	8b09517233
4:1807584 FGFR3 C>T	4	1807584	1807584	C	T	FGFR3	c.1753C>T	NM_000142.5	NP_000133.1:p.(Pro585Ser)	NC_000004.11:g.1807584C>T	VUS	2 labs	fc5233a4fe
17:5424336 NLRP1 C>T	17	5424336	5424336	C	T	NLRP1	c.3784-4G>A	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5424336C>T	(Likely) benign	2 labs	8b1074c2bf
6:52103527 IL17F C>A	6	52103527	52103527	C	A	IL17F	c.254+1G>T	NM_052872.4	NP_443104.1:p.?	NC_000006.11:g.52103527C>A	VUS	3 labs	8b283bd03f
17:29684312 NF1 A>G	17	29684312	29684312	A	G	NF1	c.7832A>G	NM_000267.3	NP_000258.1:p.(Asp2611Gly)	NC_000017.10:g.29684312A>G	(Likely) pathogenic	2 labs	8b2a3cffe4
6:33133393 COL11A2 T>C	6	33133393	33133393	T	C	COL11A2	c.4683A>G	NM_080680.2	NP_542411.2:p.(Thr1561=)	NC_000006.11:g.33133393T>C	(Likely) benign	2 labs	8b31fbe4a1
2:197183517 HECW2 T>G	2	197183517	197183517	T	G	HECW2	c.2097A>C	NM_020760.3	NP_065811.1:p.(Glu699Asp)	NC_000002.11:g.197183517T>G	(Likely) benign	2 labs	8b344d495c
1:27875559 AHDC1 G>C	1	27875559	27875559	G	C	AHDC1	c.3068C>G	NM_001029882.3	NP_001025053.1:p.(Pro1023Arg)	NC_000001.10:g.27875559G>C	(Likely) benign	2 labs	8b3e67190a
12:32949146 PKP2 A>G	12	32949146	32949146	A	G	PKP2	c.2386T>C	NM_004572.4	NP_004563.2:p.(Cys796Arg)	NC_000012.11:g.32949146A>G	(Likely) pathogenic	4 labs	8b3ef96bdb
15:35084464 ACTC1 C>T	15	35084464	35084464	C	T	ACTC1	c.635G>A	NM_005159.4	NP_005150.1:p.(Arg212His)	NC_000015.9:g.35084464C>T	VUS	2 labs	8b3fa591bb
17:41243940 BRCA1 C>T	17	41243940	41243940	C	T	BRCA1	c.3608G>A	NM_007294.3	NP_009225.1:p.(Arg1203Gln)	NC_000017.10:g.41243940C>T	(Likely) benign	3 labs	8b52bfbaf5
3:129195663 IFT122 C>T	3	129195663	129195663	C	T	IFT122	c.1300+19C>T	NM_052985.3	NP_443711.2:p.?	NC_000003.11:g.129195663C>T	(Likely) benign	2 labs	8b571098c8
17:48673967 CACNA1G C>T	17	48673967	48673967	C	T	CACNA1G	c.3024C>T	NM_018896.4	NP_061496.2:p.(Pro1008=)	NC_000017.10:g.48673967C>T	(Likely) benign	2 labs	8b5ab1126e
X:110987996 ALG13 ACCT>A	X	110987996	110988035	ACCT	A	ALG13	c.2833_2835del	NM_001099922.3	NP_001093392.1:p.(Pro945del)	NC_000023.10:g.110988033_110988035del	(Likely) benign	2 labs	8b65243e5c
X:153219656 HCFC1 G>A	X	153219656	153219656	G	A	HCFC1	c.4194C>T	NM_005334.2	NP_005325.2:p.(Ser1398=)	NC_000023.10:g.153219656G>A	(Likely) benign	2 labs	8b5ffd5bba
22:27021457 CRYBA4 T>C	22	27021457	27021457	T	C	CRYBA4	c.171T>C	NM_001886.3	NP_001877.1:p.(Phe57=)	NC_000022.10:g.27021457T>C	(Likely) benign	2 labs	fc6056403d
17:10537420 MYH3 C>T	17	10537420	10537420	C	T	MYH3	c.4436G>A	NM_002470.3	NP_002461.2:p.(Ser1479Asn)	NC_000017.10:g.10537420C>T	VUS	2 labs	8b6f4c3b54
8:134030106 TG A>G	8	134030106	134030106	A	G	TG	c.6646A>G	NM_003235.5	NP_003226.4:p.(Ile2216Val)	NC_000008.10:g.134030106A>G	(Likely) benign	2 labs	8b6a6daa9a
9:131671438 LRRC8A G>A	9	131671438	131671438	G	A	LRRC8A	c.1995G>A	NM_001127244.1	NP_001120716.1:p.(Glu665=)	NC_000009.11:g.131671438G>A	(Likely) benign	2 labs	8b765010ff
16:70298954 AARS1 T>C	16	70298954	70298954	T	C	AARS1	c.1399A>G	NM_001605.3	NP_001596.2:p.(Ile467Val)	NC_000016.9:g.70298954T>C	VUS	2 labs	fc658b7831
20:57466871 GNAS G>A	20	57466871	57466871	G	A	GNAS	c.90G>A	NM_001077488.5	NP_001070956.1:p.(Leu30=)	NC_000020.10:g.57466871G>A	(Likely) benign	2 labs	8b7a9a193c
17:40693136 NAGLU C>G	17	40693136	40693136	C	G	NAGLU	c.933C>G	NM_000263.4	NP_000254.2:p.(Ala311=)	NC_000017.10:g.40693136C>G	(Likely) benign	2 labs	8b823f11d5
8:61655170 CHD7 A>G	8	61655170	61655170	A	G	CHD7				NC_000008.10:g.61655170A>G	(Likely) benign	2 labs	8b874840d0
5:89971170 ADGRV1 T>C	5	89971170	89971170	T	C	ADGRV1	c.5221T>C	NM_032119.4	NP_115495.3:p.(Leu1741=)	NC_000005.9:g.89971170T>C	(Likely) benign	4 labs	8b89de3c24
X:47088032 CDK16 T>C	X	47088032	47088032	T	C	CDK16	c.1460T>C	NM_033018.3	NP_148978.2:p.(Met487Thr)	NC_000023.10:g.47088032T>C	(Likely) benign	2 labs	8b8a6a00e7
10:75874547 VCL C>T	10	75874547	75874547	C	T	VCL	c.3154-6C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75874547C>T	(Likely) benign	4 labs	fc6ae5cb4c
19:48800569 ODAD1 G>A	19	48800569	48800569	G	A	ODAD1	c.1788C>T	NM_001364171.1	NP_001351100.1:p.(His596=)	NC_000019.9:g.48800569G>A	(Likely) benign	2 labs	8b9ac4204f
14:23885378 MYH7 C>T	14	23885378	23885378	C	T	MYH7	c.4788G>A	NM_000257.4	NP_000248.2:p.(Ser1596=)	NC_000014.8:g.23885378C>T	(Likely) benign	6 labs	fc6b85c19b
1:237619942 RYR2 G>A	1	237619942	237619942	G	A	RYR2	c.1519G>A	NM_001035.3	NP_001026.2:p.(Val507Ile)	NC_000001.10:g.237619942G>A	(Likely) benign	3 labs	8baa098843
22:51065388 ARSA G>A	22	51065388	51065388	G	A	ARSA	c.558C>T	NM_000487.6	NP_000478.3:p.(Asn186=)	NC_000022.10:g.51065388G>A	(Likely) benign	2 labs	8bab772f7c
16:89180883 ACSF3 G>A	16	89180883	89180883	G	A	ACSF3	c.1114G>A	NM_001243279.3	NP_001230208.1:p.(Val372Met)	NC_000016.9:g.89180883G>A	(Likely) benign	2 labs	fc7010ed27
17:54912391 DGKE C>G	17	54912391	54912391	C	G	DGKE	c.235C>G	NM_003647.2	NP_003638.1:p.(Gln79Glu)	NC_000017.10:g.54912391C>G	(Likely) benign	2 labs	8bbc6949a9
3:49161004 LAMB2 C>A	3	49161004	49161004	C	A	LAMB2	c.3858G>T	NM_002292.4	NP_002283.3:p.(Val1286=)	NC_000003.11:g.49161004C>A	(Likely) benign	4 labs	8bb42d2358
22:37328913 CSF2RB G>A	22	37328913	37328913	G	A	CSF2RB	c.1119G>A	NM_000395.2	NP_000386.1:p.(Glu373=)	NC_000022.10:g.37328913G>A	(Likely) benign	2 labs	8bc8379d56
X:100662921 GLA C>T	X	100662921	100662921	C	T	GLA	c.-30G>A	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100662921C>T	(Likely) benign	2 labs	8bd073f441
18:59814268 PIGN G>A	18	59814268	59814268	G	A	PIGN	c.741C>T	NM_176787.5	NP_789744.1:p.(His247=)	NC_000018.9:g.59814268G>A	(Likely) benign	2 labs	fc73d92f64
7:66459273 SBDS T>A	7	66459273	66459273	T	A	SBDS	c.184A>T	NM_016038.4	NP_057122.2:p.(Lys62Ter)	NC_000007.13:g.66459273T>A	(Likely) pathogenic	4 labs	8bd9fd55c3
3:47129609 SETD2 G>A	3	47129609	47129609	G	A	SETD2	c.5271C>T	NM_014159.6	NP_054878.5:p.(Leu1757=)	NC_000003.11:g.47129609G>A	(Likely) benign	2 labs	8be2060a10
1:156105687 LMNA T>A	1	156105687	156105687	T	A	LMNA				NC_000001.10:g.156105687T>A	VUS	2 labs	bb11305449
8:144997681 PLEC C>T	8	144997681	144997681	C	T	PLEC	c.6497G>A	NM_000445.5	NP_000436.2:p.(Arg2166His)	NC_000008.10:g.144997681C>T	VUS	2 labs	8bf29ce011
9:139581620 AGPAT2 G>A	9	139581620	139581620	G	A	AGPAT2	c.182+8C>T	NM_006412.3	NP_006403.2:p.?	NC_000009.11:g.139581620G>A	(Likely) benign	2 labs	8be65683f6
11:47259728 DDB2 G>A	11	47259728	47259728	G	A	DDB2	c.1228G>A	NM_000107.3	NP_000098.1:p.(Ala410Thr)	NC_000011.9:g.47259728G>A	(Likely) benign	3 labs	8be5280925
1:237713929 RYR2 G>A	1	237713929	237713929	G	A	RYR2	c.3152G>A	NM_001035.3	NP_001026.2:p.(Arg1051His)	NC_000001.10:g.237713929G>A	VUS	6 labs	8bf973307b
X:18912416 PHKA2 G>A	X	18912416	18912416	G	A	PHKA2	c.3443C>T	NM_000292.3	NP_000283.1:p.(Thr1148Met)	NC_000023.10:g.18912416G>A	VUS	2 labs	8bfbdef5c5
X:152990761 ABCD1 A>G	X	152990761	152990761	A	G	ABCD1	c.40A>G	NM_000033.3	NP_000024.2:p.(Thr14Ala)	NC_000023.10:g.152990761A>G	(Likely) benign	2 labs	8bf928094d
2:179631214 TTN T>C	2	179631214	179631214	T	C	TTN	c.9597A>G	NM_001267550.2	NP_001254479.2:p.(Glu3199=)	NC_000002.11:g.179631214T>C	(Likely) benign	2 labs	8bfd36f56f
11:17474779 ABCC8 C>T	11	17474779	17474779	C	T	ABCC8	c.1063G>A	NM_000352.6	NP_000343.2:p.(Ala355Thr)	NC_000011.9:g.17474779C>T	VUS	3 labs	8c0866f02e
10:79760740 POLR3A G>A	10	79760740	79760740	G	A	POLR3A	c.2472C>T	NM_007055.3	NP_008986.2:p.(His824=)	NC_000010.10:g.79760740G>A	(Likely) benign	2 labs	8c091997ed
16:2167673 PKD1 G>A	16	2167673	2167673	G	A	PKD1	c.1202C>T	NM_001009944.2	NP_001009944.2:p.(Ala401Val)	NC_000016.9:g.2167673G>A	(Likely) benign	2 labs	8c0fa49d3c
2:179569933 TTN T>C	2	179569933	179569933	T	C	TTN	c.29572A>G	NM_001267550.2	NP_001254479.2:p.(Lys9858Glu)	NC_000002.11:g.179569933T>C	VUS	2 labs	8c07c51e41
20:2380323 TGM6 G>A	20	2380323	2380323	G	A	TGM6	c.789G>A	NM_198994.2	NP_945345.2:p.(Lys263=)	NC_000020.10:g.2380323G>A	(Likely) benign	2 labs	8c1522472f
13:32890557 BRCA2 A>G	13	32890557	32890557	A	G	BRCA2	c.-39-2A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890557A>G	(Likely) pathogenic	3 labs	8c1f612925
8:97156837 GDF6 T>C	8	97156837	97156837	T	C	GDF6	c.1322A>G	NM_001001557.4	NP_001001557.1:p.(Tyr441Cys)	NC_000008.10:g.97156837T>C	VUS	2 labs	fc85791970
5:60448723 NDUFAF2 G>A	5	60448723	60448723	G	A	NDUFAF2	c.451G>A	NM_174889.5	NP_777549.1:p.(Gly151Ser)	NC_000005.9:g.60448723G>A	(Likely) benign	2 labs	8c36ccc70e
X:47062117 UBA1 C>T	X	47062117	47062117	C	T	UBA1	c.1137C>T	NM_003334.4	NP_003325.2:p.(Asp379=)	NC_000023.10:g.47062117C>T	(Likely) benign	2 labs	8c39757865
5:36677083 SLC1A3 G>C	5	36677083	36677083	G	C	SLC1A3	c.657G>C	NM_004172.4	NP_004163.3:p.(Glu219Asp)	NC_000005.9:g.36677083G>C	(Likely) benign	2 labs	8c3cd45603
2:167085297 SCN9A A>G	2	167085297	167085297	A	G	SCN9A	c.4077T>C	NM_002977.3	NP_002968.1:p.(Cys1359=)	NC_000002.11:g.167085297A>G	(Likely) benign	2 labs	8c3f3d8abe
12:80747146 OTOGL C>T	12	80747146	80747146	C	T	OTOGL	c.5422C>T	NM_173591.3	NP_775862.3:p.(Arg1808Ter)	NC_000012.11:g.80747146C>T	(Likely) pathogenic	2 labs	8c40797b6f
22:46136298 ATXN10 C>T	22	46136298	46136298	C	T	ATXN10	c.1053C>T	NM_013236.3	NP_037368.1:p.(Phe351=)	NC_000022.10:g.46136298C>T	(Likely) benign	2 labs	8c484de1b9
13:39263687 FREM2 C>T	13	39263687	39263687	C	T	FREM2	c.2206C>T	NM_207361.5	NP_997244.4:p.(Arg736Ter)	NC_000013.10:g.39263687C>T	(Likely) pathogenic	3 labs	8c5a4b1534
10:73491829 CDH23 C>T	10	73491829	73491829	C	T	CDH23	c.3801C>T	NM_022124.5	NP_071407.4:p.(Thr1267=)	NC_000010.10:g.73491829C>T	(Likely) benign	2 labs	8c5ba24caf
20:62324542 RTEL1 G>C	20	62324542	62324542	G	C	RTEL1	c.2898G>C	NM_001283009.1	NP_001269938.1:p.(Glu966Asp)	NC_000020.10:g.62324542G>C	(Likely) benign	2 labs	8c6c1f874a
16:3293888 MEFV C>T	16	3293888	3293888	C	T	MEFV	c.1306G>A	NM_001198536.2	NP_001185465.2:p.(Gly436Arg)	NC_000016.9:g.3293888C>T	(Likely) benign	2 labs	fc96867606
2:179429702 TTN A>T	2	179429702	179429702	A	T	TTN	c.81157T>A	NM_001267550.1	NP_001254479.1:p.(Tyr27053Asn)	NC_000002.11:g.179429702A>T	VUS	2 labs	8c7f8037fe
1:216538391 USH2A C>T	1	216538391	216538391	C	T	USH2A	c.688G>A	NM_206933.2	NP_996816.2:p.(Val230Met)	NC_000001.10:g.216538391C>T	(Likely) benign	2 labs	8c7fd63b32
16:88788461 PIEZO1 G>A	16	88788461	88788461	G	A	PIEZO1	c.4969C>T	NM_001142864.4	NP_001136336.2:p.(Pro1657Ser)	NC_000016.9:g.88788461G>A	(Likely) benign	3 labs	8c839b7487
6:49419420 MMUT T>G	6	49419420	49419420	T	G	MMUT	c.1091A>C	NM_000255.4	NP_000246.2:p.(Tyr364Ser)	NC_000006.11:g.49419420T>G	VUS	3 labs	8c85ac1315
X:153588799 FLNA A>G	X	153588799	153588799	A	G	FLNA	c.3364T>C	NM_001110556.2	NP_001104026.1:p.(Cys1122Arg)	NC_000023.10:g.153588799A>G	VUS	2 labs	8c92a4abe9
1:103488522 COL11A1 C>G	1	103488522	103488522	C	G	COL11A1	c.1057G>C	NM_080629.3	NP_542196.2:p.(Glu353Gln)	NC_000001.10:g.103488522C>G	(Likely) benign	4 labs	8c9d817170
1:236907968 ACTN2 C>T	1	236907968	236907968	C	T	ACTN2	c.674C>T	NM_001278344.2	NP_001265273.1:p.(Ser225Leu)	NC_000001.10:g.236907968C>T	(Likely) benign	4 labs	8ca0e0185f
22:36745307 MYH9 G>A	22	36745307	36745307	G	A	MYH9	c.-19-7C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36745307G>A	(Likely) benign	3 labs	8cad5bf30c
6:5369409 FARS2 G>A	6	5369409	5369409	G	A	FARS2	c.606G>A	NM_001318872.1	NP_001305801.1:p.(Lys202=)	NC_000006.11:g.5369409G>A	(Likely) benign	2 labs	8cb6750a10
12:52200871 SCN8A G>A	12	52200871	52200871	G	A	SCN8A	c.5601G>A	NM_001330260.1	NP_001317189.1:p.(Gln1867=)	NC_000012.11:g.52200871G>A	(Likely) benign	2 labs	8cb6fe8d88
13:23907677 SACS C>T	13	23907677	23907677	C	T	SACS	c.10338G>A	NM_014363.6	NP_055178.3:p.(Gln3446=)	NC_000013.10:g.23907677C>T	(Likely) benign	3 labs	8cbde69dcd
6:33132114 COL11A2 C>T	6	33132114	33132114	C	T	COL11A2	c.5000G>A	NM_080680.2	NP_542411.2:p.(Arg1667His)	NC_000006.11:g.33132114C>T	(Likely) benign	2 labs	8cc764fd36
19:2250659 AMH C>A	19	2250659	2250659	C	A	AMH	c.564C>A	NM_000479.4	NP_000470.2:p.(Cys188Ter)	NC_000019.9:g.2250659C>A	(Likely) pathogenic	2 labs	8cc91832f2
2:50779909 NRXN1 T>C	2	50779909	50779909	T	C	NRXN1	c.1695A>G	NM_001135659.2	NP_001129131.1:p.(Arg565=)	NC_000002.11:g.50779909T>C	(Likely) benign	2 labs	8cd56e7949
X:119007305 NDUFA1 G>C	X	119007305	119007305	G	C	NDUFA1	c.141G>C	NM_004541.4	NP_004532.1:p.(Leu47=)	NC_000023.10:g.119007305G>C	(Likely) benign	2 labs	8cd19d5118
2:170062683 LRP2 T>C	2	170062683	170062683	T	C	LRP2	c.7406A>G	NM_004525.3	NP_004516.2:p.(Asp2469Gly)	NC_000002.11:g.170062683T>C	(Likely) benign	2 labs	8cd5e904c2
15:51868380 DMXL2 T>TAAA	15	51868380	51868400	T	TAAA	DMXL2	c.88-5_88-3dup	NM_001174116.3	NP_001167587.1:p.?	NC_000015.9:g.51868398_51868400dup	(Likely) benign	2 labs	8cdb18e4d0
X:74375987 ABCB7 A>G	X	74375987	74375987	A	G	ABCB7	c.121T>C	NM_004299.6	NP_004290.2:p.(Trp41Arg)	NC_000023.10:g.74375987A>G	(Likely) benign	2 labs	8ce6d11397
17:61995862 GH1 G>A	17	61995862	61995862	G	A	GH1	c.15C>T	NM_000515.4	NP_000506.2:p.(Ser5=)	NC_000017.10:g.61995862G>A	(Likely) benign	2 labs	8ceae6d42c
5:149754538 TCOF1 C>T	5	149754538	149754538	C	T	TCOF1	c.1300C>T	NM_001135243.1	NP_001128715.1:p.(Pro434Ser)	NC_000005.9:g.149754538C>T	(Likely) benign	2 labs	8cebbeaad9
7:21659554 DNAH11 A>ATTAAT	7	21659554	21659558	A	ATTAAT	DNAH11	c.4378-17_4378-16insATTTA	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21659557_21659558insATTTA	(Likely) benign	2 labs	8ce8a05f6a
19:17954642 JAK3 C>T	19	17954642	17954642	C	T	JAK3	c.252G>A	NM_000215.3	NP_000206.2:p.(Pro84=)	NC_000019.9:g.17954642C>T	(Likely) benign	2 labs	8cfa5098c7
6:129649468 LAMA2 C>G	6	129649468	129649468	C	G	LAMA2	c.4222C>G	NM_000426.3	NP_000417.2:p.(Arg1408Gly)	NC_000006.11:g.129649468C>G	(Likely) benign	2 labs	8d01c07e05
X:55187298 VCF2 A>G	X	55187298	55187298	A	G	VCF2	c.17T>C	NM_001166703.1	NP_001160175.1:p.(Leu6Ser)	NC_000023.10:g.55187298A>G	(Likely) benign	2 labs	8d0580fa3c
2:73613031 ALMS1 T>TGGAGGA	2	73613031	73613070	T	TGGAGGA	ALMS1	c.75_77dup	NM_015120.4	NP_055935.4:p.(Glu29dup)	NC_000002.11:g.73613065_73613070dup	(Likely) benign	3 labs	8d07903b76
11:118183440 CD3E G>C	11	118183440	118183440	G	C	CD3E	c.211G>C	NM_000733.4	NP_000724.1:p.(Asp71His)	NC_000011.9:g.118183440G>C	(Likely) benign	3 labs	8d0b05094b
15:66996370 SMAD6 CG>C	15	66996370	66996371	CG	C	SMAD6	c.775del	NM_005585.5	NP_005576.3:p.(Val259CysfsTer280)	NC_000015.9:g.66996371del	(Likely) pathogenic	2 labs	8d0dc73830
16:28950189 CD19 C>A	16	28950189	28950189	C	A	CD19	c.1583-4C>A	NM_001178098.1	NP_001171569.1:p.?	NC_000016.9:g.28950189C>A	(Likely) benign	2 labs	8d134dc189
16:2164832 PKD1 G>A	16	2164832	2164832	G	A	PKD1	c.2192C>T	NM_001009944.2	NP_001009944.2:p.(Pro731Leu)	NC_000016.9:g.2164832G>A	(Likely) benign	3 labs	8d17ee0c07
6:70981355 COL9A1 C>A	6	70981355	70981355	C	A	COL9A1	c.1143+3G>T	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70981355C>A	VUS	2 labs	8d1df604c3
16:29824939 PRRT2 G>A	16	29824939	29824939	G	A	PRRT2	c.564G>A	NM_001256443.1	NP_001243372.1:p.(Gln188=)	NC_000016.9:g.29824939G>A	(Likely) benign	3 labs	8d1f0d6e19
16:1642549 IFT140 C>T	16	1642549	1642549	C	T	IFT140	c.410G>A	NM_014714.3	NP_055529.2:p.(Arg137Gln)	NC_000016.9:g.1642549C>T	(Likely) benign	2 labs	8d20f85861
1:154842199 KCNN3 G>GGCTGCT	1	154842199	154842242	G	GGCTGCT	KCNN3	c.236_241dup	NM_002249.6	NP_002240.3:p.(Gln79_Gln80dup)	NC_000001.10:g.154842237_154842242dup	(Likely) benign	2 labs	fca23d3e89
2:179529441 TTN C>G	2	179529441	179529441	C	G	TTN	c.36142G>C	NM_001267550.2	NP_001254479.2:p.(Val12048Leu)	NC_000002.11:g.179529441C>G	VUS	2 labs	8d2c3f4df0
19:38937211 RYR1 G>A	19	38937211	38937211	G	A	RYR1	c.725+6G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38937211G>A	(Likely) benign	3 labs	8d3eb81c9f
2:228173636 COL4A3 A>G	2	228173636	228173636	A	G	COL4A3	c.4484A>G	NM_000091.4	NP_000082.2:p.(Gln1495Arg)	NC_000002.11:g.228173636A>G	(Likely) benign	3 labs	8d3ed35419
9:35706000 TLN1 C>T	9	35706000	35706000	C	T	TLN1	c.5470G>A	NM_006289.4	NP_006280.3:p.(Val1824Met)	NC_000009.11:g.35706000C>T	VUS	2 labs	8d3ff2234a
19:38964201 RYR1 C>T	19	38964201	38964201	C	T	RYR1	c.3950C>T	NM_000540.2	NP_000531.2:p.(Pro1317Leu)	NC_000019.9:g.38964201C>T	VUS	2 labs	8d4d339392
9:139391614 NOTCH1 T>C	9	139391614	139391614	T	C	NOTCH1	c.6577A>G	NM_017617.5	NP_060087.3:p.(Ser2193Gly)	NC_000009.11:g.139391614T>C	VUS	2 labs	8d56cc7bd1
5:79929740 DHFR C>T	5	79929740	79929740	C	T	DHFR	c.441G>A	NM_000791.3	NP_000782.1:p.(Thr147=)	NC_000005.9:g.79929740C>T	(Likely) benign	2 labs	8d5099c641
14:21794112 RPGRIP1 C>T	14	21794112	21794112	C	T	RPGRIP1	c.2490C>T	NM_020366.3	NP_065099.3:p.(Thr830=)	NC_000014.8:g.21794112C>T	(Likely) benign	2 labs	8d52dac65a
12:6091164 VWF G>A	12	6091164	6091164	G	A	VWF	c.7082-7C>T	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6091164G>A	(Likely) benign	2 labs	fcab8bad21
1:65849887 DNAJC6 G>A	1	65849887	65849887	G	A	DNAJC6	c.678G>A	NM_001256864.2	NP_001243793.1:p.(Ala226=)	NC_000001.10:g.65849887G>A	(Likely) benign	2 labs	8d6abbc709
1:46662690 POMGNT1 G>A	1	46662690	46662690	G	A	POMGNT1	c.187C>T	NM_001243766.1	NP_001230695.1:p.(Arg63Ter)	NC_000001.10:g.46662690G>A	(Likely) pathogenic	2 labs	8d7491f395
11:121475922 SORL1 T>A	11	121475922	121475922	T	A	SORL1	c.4752T>A	NM_003105.6	NP_003096.2:p.(Ala1584=)	NC_000011.9:g.121475922T>A	(Likely) benign	2 labs	8d76d85543
12:111066669 TCTN1 A>G	12	111066669	111066669	A	G	TCTN1	c.36A>G	NM_001319681.1	NP_001306610.1:p.(Glu12=)	NC_000012.11:g.111066669A>G	(Likely) benign	2 labs	8d852f2859
2:166180016 SCN2A G>T	2	166180016	166180016	G	T	SCN2A	c.2016+6G>T	NM_021007.2	NP_066287.2:p.?	NC_000002.11:g.166180016G>T	(Likely) benign	2 labs	8d895e63e2
18:77227480 NFATC1 C>T	18	77227480	77227480	C	T	NFATC1	c.1990C>T	NM_006162.5	NP_006153.2:p.(Arg664Trp)	NC_000018.9:g.77227480C>T	VUS	2 labs	fcbf89386b
12:57975281 KIF5A A>G	12	57975281	57975281	A	G	KIF5A	c.2839A>G	NM_004984.4	NP_004975.2:p.(Thr947Ala)	NC_000012.11:g.57975281A>G	(Likely) benign	3 labs	8d828207d6
19:39055853 RYR1 G>C	19	39055853	39055853	G	C	RYR1	c.12879G>C	NM_000540.2	NP_000531.2:p.(Ala4293=)	NC_000019.9:g.39055853G>C	(Likely) benign	3 labs	8d9050217d
X:141291755 MAGEC2 C>T	X	141291755	141291755	C	T	MAGEC2	c.19G>A	NM_016249.3	NP_057333.1:p.(Val7Ile)	NC_000023.10:g.141291755C>T	(Likely) benign	2 labs	8d9096dbf3
1:43424300 SLC2A1 C>T	1	43424300	43424300	C	T	SLC2A1	c.18+5G>A	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43424300C>T	(Likely) benign	2 labs	8d93078ad4
4:178357512 AGA G>A	4	178357512	178357512	G	A	AGA	c.623-7C>T	NM_000027.3	NP_000018.2:p.?	NC_000004.11:g.178357512G>A	(Likely) benign	3 labs	8d9e2f200a
15:49089694 CEP152 C>T	15	49089694	49089694	C	T	CEP152	c.344G>A	NM_001194998.1	NP_001181927.1:p.(Arg115Gln)	NC_000015.9:g.49089694C>T	(Likely) benign	2 labs	8d9e4b709a
1:36932463 CSF3R A>G	1	36932463	36932463	A	G	CSF3R	c.2087T>C	NM_156039.3	NP_724781.1:p.(Met696Thr)	NC_000001.10:g.36932463A>G	(Likely) benign	2 labs	8da101621f
3:14207087 XPC T>C	3	14207087	14207087	T	C	XPC	c.622-2A>G	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14207087T>C	(Likely) pathogenic	2 labs	8db2717159
5:90103514 ADGRV1 T>C	5	90103514	90103514	T	C	ADGRV1	c.14932T>C	NM_032119.4	NP_115495.3:p.(Ser4978Pro)	NC_000005.9:g.90103514T>C	VUS	2 labs	8db1a44c80
11:68207327 LRP5 C>T	11	68207327	68207327	C	T	LRP5	c.4431C>T	NM_002335.4	NP_002326.2:p.(His1477=)	NC_000011.9:g.68207327C>T	(Likely) benign	3 labs	8da5502fb2
2:179648778 TTN C>A	2	179648778	179648778	C	A	TTN	c.2775+19G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179648778C>A	(Likely) benign	4 labs	8db5e7891c
19:52249641 FPR1 T>C	19	52249641	52249641	T	C	FPR1	c.607A>G	NM_001193306.1	NP_001180235.1:p.(Ile203Val)	NC_000019.9:g.52249641T>C	(Likely) benign	2 labs	8db7d11703
7:34125622 BMPER C>T	7	34125622	34125622	C	T	BMPER	c.1663C>T	NM_133468.5	NP_597725.1:p.(Arg555Trp)	NC_000007.13:g.34125622C>T	(Likely) benign	3 labs	8db8645b25
11:72040858 CLPB G>C	11	72040858	72040858	G	C	CLPB	c.866-10C>G	NM_030813.6	NP_110440.1:p.?	NC_000011.9:g.72040858G>C	(Likely) benign	2 labs	8dc586edf9
17:18036642 MYO15A T>C	17	18036642	18036642	T	C	MYO15A	c.4424T>C	NM_016239.3	NP_057323.3:p.(Ile1475Thr)	NC_000017.10:g.18036642T>C	VUS	2 labs	8dc59f2251
X:37527667 LANCL3 A>G	X	37527667	37527667	A	G	LANCL3	c.1150A>G	NM_198511.2	NP_940913.1:p.(Arg384Gly)	NC_000023.10:g.37527667A>G	(Likely) benign	2 labs	8dcaf90f23
19:17953242 JAK3 G>C	19	17953242	17953242	G	C	JAK3	c.744C>G	NM_000215.3	NP_000206.2:p.(Ala248=)	NC_000019.9:g.17953242G>C	(Likely) benign	2 labs	8dcbc37ba4
3:10191516 VHL T>A	3	10191516	10191516	T	A	VHL	c.509T>A	NM_000551.3	NP_000542.1:p.(Val170Asp)	NC_000003.11:g.10191516T>A	(Likely) pathogenic	2 labs	8dcf324ec4
10:112337611 SMC3 T>C	10	112337611	112337611	T	C	SMC3	c.289T>C	NM_005445.4	NP_005436.1:p.(Ser97Pro)	NC_000010.10:g.112337611T>C	(Likely) benign	2 labs	8dda5fdc3f
7:117282620 CFTR G>A	7	117282620	117282620	G	A	CFTR	c.3846G>A	NM_000492.4	NP_000483.3:p.(Trp1282Ter)	NC_000007.13:g.117282620G>A	(Likely) pathogenic	3 labs	8dddd1d5d3
13:23912708 SACS A>G	13	23912708	23912708	A	G	SACS	c.5307T>C	NM_014363.6	NP_055178.3:p.(His1769=)	NC_000013.10:g.23912708A>G	(Likely) benign	2 labs	8de454ee02
1:158624528 SPTA1 G>T	1	158624528	158624528	G	T	SPTA1	c.2909C>A	NM_003126.4	NP_003117.2:p.(Ala970Asp)	NC_000001.10:g.158624528G>T	(Likely) benign	2 labs	fcd55253e3
5:14488142 TRIO G>A	5	14488142	14488142	G	A	TRIO	c.7405G>A	NM_007118.3	NP_009049.2:p.(Gly2469Ser)	NC_000005.9:g.14488142G>A	(Likely) benign	2 labs	8dfaaa89b1
19:1468696 APC2 C>T	19	1468696	1468696	C	T	APC2	c.5396C>T	NM_005883.2	NP_005874.1:p.(Pro1799Leu)	NC_000019.9:g.1468696C>T	(Likely) benign	2 labs	8e00a04328
1:2235451 SKI C>G	1	2235451	2235451	C	G	SKI	c.1384C>G	NM_003036.4	NP_003027.1:p.(Pro462Ala)	NC_000001.10:g.2235451C>G	(Likely) benign	2 labs	8e00c3f2fc
9:422043 DOCK8 C>G	9	422043	422043	C	G	DOCK8	c.4154-5C>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.422043C>G	VUS	2 labs	8e0762e2f5
5:41862819 OXCT1 G>A	5	41862819	41862819	G	A	OXCT1	c.112C>T	NM_000436.3	NP_000427.1:p.(Arg38Cys)	NC_000005.9:g.41862819G>A	(Likely) benign	2 labs	8e09fa4dd1
2:109381493 RANBP2 G>C	2	109381493	109381493	G	C	RANBP2	c.4498G>C	NM_006267.5	NP_006258.3:p.(Ala1500Pro)	NC_000002.11:g.109381493G>C	(Likely) benign	2 labs	8e0ee94025
4:1807371 FGFR3 C>G	4	1807371	1807371	C	G	FGFR3	c.1620C>G	NM_000142.4	NP_000133.1:p.(Asn540Lys)	NC_000004.11:g.1807371C>G	(Likely) pathogenic	3 labs	8e17bc21df
X:105937575 RNF128 G>A	X	105937575	105937575	G	A	RNF128	c.343G>A	NM_024539.3	NP_078815.3:p.(Asp115Asn)	NC_000023.10:g.105937575G>A	(Likely) benign	2 labs	8e1f6da11f
1:228562438 OBSCN G>A	1	228562438	228562438	G	A	OBSCN	c.25519G>A	NM_001271223.2	NP_001258152.2:p.(Val8507Ile)	NC_000001.10:g.228562438G>A	(Likely) benign	2 labs	8e2022932b
3:50289969 GNAI2 C>T	3	50289969	50289969	C	T	GNAI2	c.254C>T	NM_001282619.1	NP_001269548.1:p.(Ala85Val)	NC_000003.11:g.50289969C>T	(Likely) benign	3 labs	8e31140f7b
7:128480100 FLNC G>A	7	128480100	128480100	G	A	FLNC	c.1435G>A	NM_001458.5	NP_001449.3:p.(Ala479Thr)	NC_000007.13:g.128480100G>A	VUS	2 labs	fce1786126
9:137623481 COL5A1 C>T	9	137623481	137623481	C	T	COL5A1	c.1304C>T	NM_000093.4	NP_000084.3:p.(Pro435Leu)	NC_000009.11:g.137623481C>T	VUS	2 labs	8e3a56ef23
14:23867953 MYH6 G>A	14	23867953	23867953	G	A	MYH6	c.1875C>T	NM_002471.3	NP_002462.2:p.(Tyr625=)	NC_000014.8:g.23867953G>A	(Likely) benign	2 labs	8e3c97cee4
13:111111245 COL4A2 C>T	13	111111245	111111245	C	T	COL4A2	c.1560C>T	NM_001846.3	NP_001837.2:p.(Pro520=)	NC_000013.10:g.111111245C>T	(Likely) benign	2 labs	8e3f23e471
2:47601069 EPCAM G>A	2	47601069	47601069	G	A	EPCAM	c.307G>A	NM_002354.2	NP_002345.2:p.(Gly103Arg)	NC_000002.11:g.47601069G>A	(Likely) pathogenic	2 labs	8e40f9c474
21:46906780 COL18A1 C>T	21	46906780	46906780	C	T	COL18A1	c.2247C>T	NM_030582.4	NP_085059.2:p.(Ser749=)	NC_000021.8:g.46906780C>T	(Likely) benign	2 labs	8e4194ad1b
11:6625566 ILK A>G	11	6625566	6625566	A	G	ILK	c.65A>G	NM_001014795.3	NP_001014795.1:p.(Asn22Ser)	NC_000011.9:g.6625566A>G	(Likely) benign	3 labs	8e41bd8e3a
12:6103738 VWF G>A	12	6103738	6103738	G	A	VWF	c.6099C>T	NM_000552.5	NP_000543.3:p.(Tyr2033=)	NC_000012.11:g.6103738G>A	(Likely) benign	3 labs	8e5b646e88
6:90371813 MDN1 A>G	6	90371813	90371813	A	G	MDN1	c.14558T>C	NM_014611.2	NP_055426.1:p.(Ile4853Thr)	NC_000006.11:g.90371813A>G	VUS	2 labs	8e50128d47
1:6512070 ESPN G>A	1	6512070	6512070	G	A	ESPN	c.2239G>A	NM_031475.3	NP_113663.2:p.(Gly747Ser)	NC_000001.10:g.6512070G>A	VUS	2 labs	8e5688703a
5:176831083 F12 C>G	5	176831083	176831083	C	G	F12	c.1027G>C	NM_000505.4	NP_000496.2:p.(Ala343Pro)	NC_000005.9:g.176831083C>G	(Likely) benign	3 labs	8e632e6598
16:31193942 FUS C>A	16	31193942	31193942	C	A	FUS	c.147C>A	NM_004960.4	NP_004951.1:p.(Gly49=)	NC_000016.9:g.31193942C>A	(Likely) benign	4 labs	fce82dbcd8
17:41226499 BRCA1 C>T	17	41226499	41226499	C	T	BRCA1	c.4524G>A	NM_007294.3	NP_009225.1:p.(Trp1508Ter)	NC_000017.10:g.41226499C>T	(Likely) pathogenic	2 labs	8e6d0a697f
17:19566648 ALDH3A2 C>T	17	19566648	19566648	C	T	ALDH3A2	c.943C>T	NM_000382.3	NP_000373.1:p.(Pro315Ser)	NC_000017.10:g.19566648C>T	(Likely) pathogenic	5 labs	8e74c6cbdf
17:40557338 CAVIN1 C>T	17	40557338	40557338	C	T	CAVIN1	c.540G>A	NM_012232.6	NP_036364.2:p.(Glu180=)	NC_000017.10:g.40557338C>T	(Likely) benign	3 labs	8e6ecc09fa
10:73122172 SLC29A3 A>G	10	73122172	73122172	A	G	SLC29A3	c.1235A>G	NM_018344.6	NP_060814.4:p.(Asp412Gly)	NC_000010.10:g.73122172A>G	VUS	2 labs	8e7b126abd
5:41158777 C6 C>T	5	41158777	41158777	C	T	C6	c.1967G>A	NM_000065.5	NP_000056.2:p.(Arg656Gln)	NC_000005.9:g.41158777C>T	VUS	2 labs	8e7c7a7d76
8:30982072 WRN C>T	8	30982072	30982072	C	T	WRN	c.2665C>T	NM_000553.4	NP_000544.2:p.(Arg889Ter)	NC_000008.10:g.30982072C>T	(Likely) pathogenic	2 labs	8e7dd3f06d
4:6290805 WFS1 A>AGGGCCGTCGCGAGGCT	4	6290805	6290822	A	AGGGCCGTCGCGAGGCT	WFS1	c.409_424dup	NM_006005.3	NP_005996.2:p.(Val142GlyfsTer110)	NC_000004.11:g.6290807_6290822dup	(Likely) pathogenic	2 labs	8e80bd1d5f
19:46283586 DMPK G>A	19	46283586	46283586	G	A	DMPK	c.233C>T	NM_001288764.1	NP_001275693.1:p.(Ser78Phe)	NC_000019.9:g.46283586G>A	(Likely) benign	2 labs	8e8f233929
10:89711900 PTEN G>A	10	89711900	89711900	G	A	PTEN	c.518G>A	NM_000314.4	NP_000305.3:p.(Arg173His)	NC_000010.10:g.89711900G>A	(Likely) pathogenic	2 labs	8e92fe5004
6:76558195 MYO6 C>T	6	76558195	76558195	C	T	MYO6	c.1025C>T	NM_004999.3	NP_004990.3:p.(Ala342Val)	NC_000006.11:g.76558195C>T	(Likely) benign	3 labs	8e9f7aeac1
10:97366675 ALDH18A1 C>T	10	97366675	97366675	C	T	ALDH18A1	c.2232G>A	NM_001323413.1	NP_001310342.1:p.(Ser744=)	NC_000010.10:g.97366675C>T	(Likely) benign	2 labs	8ea296b21b
X:15401984 VEGFD C>T	X	15401984	15401984	C	T	VEGFD	c.85G>A	NM_004469.4	NP_004460.1:p.(Val29Met)	NC_000023.10:g.15401984C>T	VUS	2 labs	8eb10619c4
11:66472274 SPTBN2 T>C	11	66472274	66472274	T	C	SPTBN2	c.2473A>G	NM_006946.4	NP_008877.2:p.(Ser825Gly)	NC_000011.9:g.66472274T>C	(Likely) benign	2 labs	8ebab58b9e
8:141595383 AGO2 G>T	8	141595383	141595383	G	T	AGO2	c.50C>A	NM_012154.5	NP_036286.2:p.(Pro17His)	NC_000008.10:g.141595383G>T	VUS	2 labs	fd0e6d6b59
11:70666459 SHANK2 C>T	11	70666459	70666459	C	T	SHANK2	c.1493+10G>A	NM_012309.4	NP_036441.2:p.?	NC_000011.9:g.70666459C>T	(Likely) benign	2 labs	8ebce3a6a6
1:39826587 MACF1 A>G	1	39826587	39826587	A	G	MACF1	c.6181A>G	NM_012090.5	NP_036222.3:p.(Ile2061Val)	NC_000001.10:g.39826587A>G	(Likely) benign	2 labs	8ebf0a61ae
8:117864867 RAD21 A>C	8	117864867	117864867	A	C	RAD21	c.1242T>G	NM_006265.3	NP_006256.1:p.(Asp414Glu)	NC_000008.10:g.117864867A>C	(Likely) benign	2 labs	8ebe291e5f
15:49083577 CEP152 C>T	15	49083577	49083577	C	T	CEP152	c.833-4G>A	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49083577C>T	(Likely) benign	3 labs	8ec7eaa405
16:89348078 ANKRD11 C>T	16	89348078	89348078	C	T	ANKRD11	c.4872G>A	NM_001256182.1	NP_001243111.1:p.(Ala1624=)	NC_000016.9:g.89348078C>T	(Likely) benign	3 labs	8ecac0d360
17:40478170 STAT3 G>A	17	40478170	40478170	G	A	STAT3	c.1329C>T	NM_139276.2	NP_644805.1:p.(Thr443=)	NC_000017.10:g.40478170G>A	(Likely) benign	2 labs	8ed046fd1f
X:99917266 SRPX2 G>A	X	99917266	99917266	G	A	SRPX2	c.257G>A	NM_014467.2	NP_055282.1:p.(Arg86His)	NC_000023.10:g.99917266G>A	(Likely) benign	2 labs	8ed2ca68a2
15:68506731 CLN6 G>A	15	68506731	68506731	G	A	CLN6	c.199-5C>T	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68506731G>A	(Likely) benign	2 labs	8ed5667fe4
X:152990759 ABCD1 A>C	X	152990759	152990759	A	C	ABCD1	c.38A>C	NM_000033.4	NP_000024.2:p.(Asn13Thr)	NC_000023.10:g.152990759A>C	(Likely) benign	5 labs	fd107b98bd
21:34799220 IFNGR2 G>A	21	34799220	34799220	G	A	IFNGR2	c.499G>A	NM_001329128.2	NP_001316057.1:p.(Val167Met)	NC_000021.8:g.34799220G>A	VUS	2 labs	8eed250552
1:197411330 CRB1 C>T	1	197411330	197411330	C	T	CRB1	c.3841C>T	NM_001257965.1	NP_001244894.1:p.(Pro1281Ser)	NC_000001.10:g.197411330C>T	VUS	2 labs	8eecb7cac5
1:235944342 LYST A>G	1	235944342	235944342	A	G	LYST	c.5037T>C	NM_001301365.1	NP_001288294.1:p.(Gly1679=)	NC_000001.10:g.235944342A>G	(Likely) benign	2 labs	8ef27d78ef
7:21924014 DNAH11 A>G	7	21924014	21924014	A	G	DNAH11	c.12493A>G	NM_001277115.2	NP_001264044.1:p.(Met4165Val)	NC_000007.13:g.21924014A>G	(Likely) benign	2 labs	8ef7a47dae
2:179400278 TTN A>G	2	179400278	179400278	A	G	TTN	c.101064T>C	NM_001267550.2	NP_001254479.2:p.(Asp33688=)	NC_000002.11:g.179400278A>G	(Likely) benign	3 labs	fd142aa2e9
17:44791279 NSF C>T	17	44791279	44791279	C	T	NSF	c.1688C>T	NM_006178.4	NP_006169.2:p.(Pro563Leu)	NC_000017.10:g.44791279C>T	(Likely) pathogenic	3 labs	fd14d1a65e
6:32026107 TNXB C>T	6	32026107	32026107	C	T	TNXB	c.7553G>A	NM_019105.8	NP_061978.6:p.(Gly2518Glu)	NC_000006.11:g.32026107C>T	(Likely) benign	2 labs	fd165cddfd
2:179452805 TTN G>A	2	179452805	179452805	G	A	TTN	c.63329C>T	NM_001267550.2	NP_001254479.2:p.(Ala21110Val)	NC_000002.11:g.179452805G>A	(Likely) benign	4 labs	8ef82480a4
10:70760271 KIFBP T>C	10	70760271	70760271	T	C	KIFBP	c.518T>C	NM_015634.3	NP_056449.1:p.(Met173Thr)	NC_000010.10:g.70760271T>C	(Likely) benign	2 labs	8f134952d0
17:41245993 BRCA1 T>G	17	41245993	41245993	T	G	BRCA1	c.1555A>C	NM_007294.4	NP_009225.1:p.(Lys519Gln)	NC_000017.10:g.41245993T>G	VUS	2 labs	fd1722d598
17:18023501 MYO15A A>G	17	18023501	18023501	A	G	MYO15A	c.1387A>G	NM_016239.3	NP_057323.3:p.(Met463Val)	NC_000017.10:g.18023501A>G	VUS	2 labs	8f1cdaf37c
4:6290748 WFS1 C>T	4	6290748	6290748	C	T	WFS1	c.350C>T	NM_006005.3	NP_005996.2:p.(Thr117Met)	NC_000004.11:g.6290748C>T	(Likely) benign	2 labs	8f2494f11b
14:23866247 MYH6 T>C	14	23866247	23866247	T	C	MYH6	c.2093A>G	NM_002471.3	NP_002462.2:p.(Asn698Ser)	NC_000014.8:g.23866247T>C	VUS	3 labs	8f32ee00db
19:44079591 XRCC1 C>A	19	44079591	44079591	C	A	XRCC1	c.20G>T	NM_006297.2	NP_006288.2:p.(Arg7Leu)	NC_000019.9:g.44079591C>A	VUS	2 labs	8f3517c3bc
1:227069737 PSEN2 C>T	1	227069737	227069737	C	T	PSEN2	c.129C>T	NM_000447.3	NP_000438.2:p.(Asn43=)	NC_000001.10:g.227069737C>T	(Likely) benign	4 labs	fd1f86876c
1:227174196 COQ8A G>T	1	227174196	227174196	G	T	COQ8A	c.1702G>T	NM_020247.4	NP_064632.2:p.(Glu568Ter)	NC_000001.10:g.227174196G>T	(Likely) pathogenic	3 labs	8f4a7c5bbf
2:179441932 TTN G>A	2	179441932	179441932	G	A	TTN	c.69130C>T	NM_001267550.2	NP_001254479.2:p.(Pro23044Ser)	NC_000002.11:g.179441932G>A	(Likely) benign	6 labs	fd20d78b6a
4:6303630 WFS1 G>A	4	6303630	6303630	G	A	WFS1	c.2108G>A	NM_006005.3	NP_005996.2:p.(Arg703His)	NC_000004.11:g.6303630G>A	(Likely) pathogenic	2 labs	8f56e24a66
16:84203612 DNAAF1 A>G	16	84203612	84203612	A	G	DNAAF1	c.1178A>G	NM_178452.6	NP_848547.4:p.(Lys393Arg)	NC_000016.9:g.84203612A>G	(Likely) benign	3 labs	8f600284d7
7:155592873 SHH G>A	7	155592873	155592873	G	A	SHH	c.368C>T	NM_001310462.2	NP_001297391.1:p.(Pro123Leu)	NC_000007.13:g.155592873G>A	(Likely) benign	2 labs	8f5907475b
2:179438826 TTN T>C	2	179438826	179438826	T	C	TTN	c.72033A>G	NM_001267550.2	NP_001254479.2:p.(Pro24011=)	NC_000002.11:g.179438826T>C	(Likely) benign	5 labs	fd3484599e
2:152438089 NEB C>T	2	152438089	152438089	C	T	NEB	c.16192G>A	NM_001271208.1	NP_001258137.1:p.(Asp5398Asn)	NC_000002.11:g.152438089C>T	(Likely) benign	2 labs	8f694936af
10:75397587 MYOZ1 C>G	10	75397587	75397587	C	G	MYOZ1	c.167G>C	NM_021245.4	NP_067068.1:p.(Gly56Ala)	NC_000010.10:g.75397587C>G	VUS	2 labs	8f6d10a3cc
2:179432185 TTN A>G	2	179432185	179432185	A	G	TTN	c.78674T>C	NM_001267550.1	NP_001254479.1:p.(Ile26225Thr)	NC_000002.11:g.179432185A>G	(Likely) benign	2 labs	8f6d8d7bb9
4:39184163 WDR19 G>T	4	39184163	39184163	G	T	WDR19	c.-15G>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39184163G>T	(Likely) benign	2 labs	8f719011a4
6:152671343 SYNE1 C>G	6	152671343	152671343	C	G	SYNE1	c.11861G>C	NM_182961.3	NP_892006.3:p.(Ser3954Thr)	NC_000006.11:g.152671343C>G	(Likely) benign	2 labs	8f7a0e4912
2:167163043 SCN9A T>C	2	167163043	167163043	T	C	SCN9A	c.444A>G	NM_002977.3	NP_002968.1:p.(Pro148=)	NC_000002.11:g.167163043T>C	(Likely) benign	3 labs	fd4d3156d8
11:32417945 WT1 T>C	11	32417945	32417945	T	C	WT1				NC_000011.9:g.32417945T>C	(Likely) benign	2 labs	8f7e1ded5b
3:132438618 NPHP3 C>T	3	132438618	132438618	C	T	NPHP3	c.450G>A	NM_153240.4	NP_694972.3:p.(Ala150=)	NC_000003.11:g.132438618C>T	(Likely) benign	2 labs	8f81d53d12
6:32029458 TNXB A>G	6	32029458	32029458	A	G	TNXB	c.7208T>C	NM_019105.6	NP_061978.6:p.(Met2403Thr)	NC_000006.11:g.32029458A>G	(Likely) benign	2 labs	8f86f1a619
11:6645459 DCHS1 G>A	11	6645459	6645459	G	A	DCHS1				NC_000011.9:g.6645459G>A	(Likely) benign	2 labs	8f8ae13c2d
10:27389197 ANKRD26 T>C	10	27389197	27389197	T	C	ANKRD26	c.59A>G	NM_014915.3	NP_055730.2:p.(Gln20Arg)	NC_000010.10:g.27389197T>C	(Likely) benign	2 labs	8f93aab44d
18:32374095 DTNA A>G	18	32374095	32374095	A	G	DTNA	c.243A>G	NM_001198939.2	NP_001185868.1:p.(Leu81=)	NC_000018.9:g.32374095A>G	(Likely) benign	3 labs	8f9bea632a
9:139413263 NOTCH1 G>A	9	139413263	139413263	G	A	NOTCH1	c.879C>T	NM_017617.5	NP_060087.3:p.(Thr293=)	NC_000009.11:g.139413263G>A	(Likely) benign	2 labs	8f9c5a85d3
20:25398748 GINS1 C>T	20	25398748	25398748	C	T	GINS1	c.247C>T	NM_021067.5	NP_066545.3:p.(Arg83Cys)	NC_000020.10:g.25398748C>T	(Likely) pathogenic	2 labs	8f9e976877
10:21461410 NEBL G>GAA	10	21461410	21461424	G	GAA	NEBL	c.70-6_70-5dup	NM_213569.2	NP_998734.1:p.?	NC_000010.10:g.21461423_21461424dup	(Likely) benign	3 labs	8f94c89e65
7:48352801 ABCA13 C>G	7	48352801	48352801	C	G	ABCA13	c.9654C>G	NM_152701.4	NP_689914.3:p.(Ala3218=)	NC_000007.13:g.48352801C>G	(Likely) benign	2 labs	8fa38db179
5:95729049 PCSK1 T>C	5	95729049	95729049	T	C	PCSK1	c.1918A>G	NM_000439.5	NP_000430.3:p.(Thr640Ala)	NC_000005.9:g.95729049T>C	(Likely) benign	3 labs	8fa087ba77
17:26864439 FOXN1 C>T	17	26864439	26864439	C	T	FOXN1	c.1932C>T	NM_003593.2	NP_003584.2:p.(Pro644=)	NC_000017.10:g.26864439C>T	(Likely) benign	2 labs	8fab0d8158
16:89597221 SPG7 A>G	16	89597221	89597221	A	G	SPG7	c.987+5A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89597221A>G	(Likely) benign	3 labs	8fae87de01
14:23871683 MYH6 G>C	14	23871683	23871683	G	C	MYH6	c.1131C>G	NM_002471.4	NP_002462.2:p.(Asp377Glu)	NC_000014.8:g.23871683G>C	(Likely) benign	3 labs	8fb634d434
12:54911392 NCKAP1L A>G	12	54911392	54911392	A	G	NCKAP1L	c.1171A>G	NM_005337.5	NP_005328.2:p.(Thr391Ala)	NC_000012.11:g.54911392A>G	VUS	2 labs	8fc4158aae
11:117222691 CEP164 C>T	11	117222691	117222691	C	T	CEP164	c.380C>T	NM_014956.4	NP_055771.4:p.(Pro127Leu)	NC_000011.9:g.117222691C>T	(Likely) benign	2 labs	8fba6b14c8
5:82834910 VCAN G>T	5	82834910	82834910	G	T	VCAN	c.6088G>T	NM_004385.5	NP_004376.2:p.(Val2030Leu)	NC_000005.9:g.82834910G>T	(Likely) benign	2 labs	8fbf6b258e
2:21246382 APOB C>G	2	21246382	21246382	C	G	APOB	c.2604+15G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21246382C>G	(Likely) benign	2 labs	fd5875a215
2:210822380 UNC80 C>T	2	210822380	210822380	C	T	UNC80	c.7257C>T	NM_182587.4	NP_872393.3:p.(Ala2419=)	NC_000002.11:g.210822380C>T	(Likely) benign	2 labs	8fc6bb19dd
16:4847824 ROGDI C>T	16	4847824	4847824	C	T	ROGDI	c.713G>A	NM_024589.3	NP_078865.1:p.(Arg238His)	NC_000016.9:g.4847824C>T	(Likely) benign	2 labs	fd5a4795b5
16:53686756 RPGRIP1L T>G	16	53686756	53686756	T	G	RPGRIP1L	c.1843A>C	NM_015272.4	NP_056087.2:p.(Thr615Pro)	NC_000016.9:g.53686756T>G	(Likely) pathogenic	2 labs	8fee29e4a5
10:97380991 ALDH18A1 G>C	10	97380991	97380991	G	C	ALDH18A1	c.1264C>G	NM_002860.4	NP_002851.2:p.(Leu422Val)	NC_000010.10:g.97380991G>C	VUS	2 labs	8ff4879f6d
11:4112898 STIM1 G>A	11	4112898	4112898	G	A	STIM1	c.1928G>A	NM_003156.4	NP_003147.2:p.(Arg643His)	NC_000011.9:g.4112898G>A	VUS	2 labs	8ff836a2f4
13:25480432 CPAP C>A	13	25480432	25480432	C	A	CPAP	c.1744G>T	NM_018451.4	NP_060921.3:p.(Glu582Ter)	NC_000013.10:g.25480432C>A	(Likely) pathogenic	2 labs	8ff2bc74dd
19:46280917 DMPK G>A	19	46280917	46280917	G	A	DMPK	c.912+8C>T	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46280917G>A	(Likely) benign	2 labs	8ff39b1b33
17:73748322 ITGB4 C>T	17	73748322	73748322	C	T	ITGB4	c.3861C>T	NM_000213.4	NP_000204.3:p.(Asn1287=)	NC_000017.10:g.73748322C>T	(Likely) benign	2 labs	8ff716a8b8
21:44838426 SIK1 G>C	21	44838426	44838426	G	C	SIK1	c.1463-5C>G	NM_173354.5	NP_775490.2:p.?	NC_000021.8:g.44838426G>C	(Likely) benign	2 labs	fd698800a0
3:132418756 NPHP3 C>T	3	132418756	132418756	C	T	NPHP3	c.1887+6G>A	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132418756C>T	(Likely) benign	4 labs	8ffa1bbf69
12:106831475 POLR3B T>C	12	106831475	106831475	T	C	POLR3B	c.1873T>C	NM_018082.6	NP_060552.4:p.(Leu625=)	NC_000012.11:g.106831475T>C	(Likely) benign	3 labs	9001af4d85
19:41120358 LTBP4 C>T	19	41120358	41120358	C	T	LTBP4	c.3013+6C>T	NM_001042544.1	NP_001036009.1:p.?	NC_000019.9:g.41120358C>T	(Likely) benign	2 labs	90117d0c1e
14:50655357 SOS2 G>C	14	50655357	50655357	G	C	SOS2	c.572C>G	NM_006939.4	NP_008870.2:p.(Pro191Arg)	NC_000014.8:g.50655357G>C	(Likely) benign	2 labs	90144aec0f
15:48818452 FBN1 T>C	15	48818452	48818452	T	C	FBN1	c.863A>G	NM_000138.5	NP_000129.3:p.(Asp288Gly)	NC_000015.9:g.48818452T>C	VUS	3 labs	901a3f468d
21:47786494 PCNT C>T	21	47786494	47786494	C	T	PCNT	c.2610-5C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47786494C>T	(Likely) benign	2 labs	901f4a330c
16:2141913 PKD1 G>A	16	2141913	2141913	G	A	PKD1	c.11412-6C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2141913G>A	(Likely) benign	2 labs	9021a11c17
9:14806786 FREM1 G>A	9	14806786	14806786	G	A	FREM1	c.3147C>T	NM_144966.5	NP_659403.4:p.(Ser1049=)	NC_000009.11:g.14806786G>A	(Likely) benign	2 labs	90261f32a4
20:34022196 GDF5 C>T	20	34022196	34022196	C	T	GDF5	c.1017=	NM_000557.4	NP_000548.2:p.(Lys339=)	NC_000020.10:g.34022196C>T	(Likely) benign	2 labs	902b3b30f9
1:216420445 USH2A C>A	1	216420445	216420445	C	A	USH2A	c.2291G>T	NM_206933.2	NP_996816.2:p.(Gly764Val)	NC_000001.10:g.216420445C>A	VUS	2 labs	9033f78386
16:89256697 CDH15 T>C	16	89256697	89256697	T	C	CDH15	c.1025T>C	NM_004933.2	NP_004924.1:p.(Val342Ala)	NC_000016.9:g.89256697T>C	VUS	2 labs	9038a0adb5
9:139327034 INPP5E A>G	9	139327034	139327034	A	G	INPP5E	c.1284T>C	NM_019892.6	NP_063945.2:p.(Gly428=)	NC_000009.11:g.139327034A>G	(Likely) benign	2 labs	9047904ea3
X:73641884 SLC16A2 C>G	X	73641884	73641884	C	G	SLC16A2	c.412C>G	NM_006517.5	NP_006508.2:p.(Gln138Glu)	NC_000023.10:g.73641884C>G	(Likely) benign	2 labs	9049e4937c
20:42815338 JPH2 C>T	20	42815338	42815338	C	T	JPH2	c.8G>A	NM_020433.5	NP_065166.2:p.(Gly3Glu)	NC_000020.10:g.42815338C>T	VUS	3 labs	fd7b302d52
1:6012770 NPHP4 T>A	1	6012770	6012770	T	A	NPHP4	c.800A>T	NM_015102.4	NP_055917.1:p.(His267Leu)	NC_000001.10:g.6012770T>A	(Likely) benign	2 labs	904be7c43c
12:95365316 NDUFA12 T>C	12	95365316	95365316	T	C	NDUFA12	c.338A>G	NM_018838.5	NP_061326.1:p.(His113Arg)	NC_000012.11:g.95365316T>C	VUS	2 labs	fd7cc859c5
14:23897755 MYH7 A>G	14	23897755	23897755	A	G	MYH7	c.1532T>C	NM_000257.4	NP_000248.2:p.(Ile511Thr)	NC_000014.8:g.23897755A>G	(Likely) pathogenic	2 labs	906b45c641
X:114425207 RBMXL3 C>CGGAGGCCGCTCGCCCGACACCCACAGT	X	114425207	114425210	C	CGGAGGCCGCTCGCCCGACACCCACAGT	RBMXL3	c.1205_1206insAGGCCGCTCGCCCGACACCCACAGTGG	NM_001145346.1	NP_001138818.1:p.(Arg404_Asn405insSerProAspThrHisSerGlyGlyArg)	NC_000023.10:g.114425209_114425210insAGGCCGCTCGCCCGACACCCACAGTGG	VUS	2 labs	906c3d623b
2:96919698 TMEM127 G>A	2	96919698	96919698	G	A	TMEM127	c.565C>T	NM_017849.3	NP_060319.1:p.(Leu189=)	NC_000002.11:g.96919698G>A	(Likely) benign	2 labs	9072de24aa
7:92732566 SAMD9 C>A	7	92732566	92732566	C	A	SAMD9	c.2845G>T	NM_017654.3	NP_060124.2:p.(Ala949Ser)	NC_000007.13:g.92732566C>A	(Likely) benign	2 labs	907341fa42
11:89028323 TYR T>C	11	89028323	89028323	T	C	TYR	c.1379T>C	NM_000372.4	NP_000363.1:p.(Phe460Ser)	NC_000011.9:g.89028323T>C	VUS	2 labs	90735c22d1
17:29486026 NF1 A>G	17	29486026	29486026	A	G	NF1	c.205-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486026A>G	(Likely) pathogenic	2 labs	907cf76c43
17:41244477 BRCA1 C>T	17	41244477	41244477	C	T	BRCA1	c.3071G>A	NM_007294.3	NP_009225.1:p.(Ser1024Asn)	NC_000017.10:g.41244477C>T	(Likely) benign	2 labs	90804ac9f9
3:197426106 RUBCN C>A	3	197426106	197426106	C	A	RUBCN	c.1082-4G>T	NM_001145642.4	NP_001139114.1:p.?	NC_000003.11:g.197426106C>A	(Likely) benign	3 labs	fd88124ce5
21:45707467 AIRE C>T	21	45707467	45707467	C	T	AIRE				NC_000021.8:g.45707467C>T	(Likely) benign	2 labs	9082eef486
17:18051413 MYO15A C>T	17	18051413	18051413	C	T	MYO15A	c.6580C>T	NM_016239.3	NP_057323.3:p.(Arg2194Trp)	NC_000017.10:g.18051413C>T	VUS	2 labs	9085614a2c
19:42410098 ARHGEF1 C>T	19	42410098	42410098	C	T	ARHGEF1	c.2457C>T	NM_199002.1	NP_945353.1:p.(Thr819=)	NC_000019.9:g.42410098C>T	(Likely) benign	2 labs	90894300a2
8:61764666 CHD7 T>C	8	61764666	61764666	T	C	CHD7				NC_000008.10:g.61764666T>C	(Likely) benign	3 labs	9090b3bf18
11:20648309 SLC6A5 G>A	11	20648309	20648309	G	A	SLC6A5	c.1316G>A	NM_004211.5	NP_004202.4:p.(Arg439Gln)	NC_000011.9:g.20648309G>A	VUS	2 labs	fd92d8e1d1
5:94848253 SKIC3 C>T	5	94848253	94848253	C	T	SKIC3	c.2848G>A	NM_014639.3	NP_055454.1:p.(Glu950Lys)	NC_000005.9:g.94848253C>T	VUS	2 labs	90b6e92e3a
19:40408254 FCGBP G>A	19	40408254	40408254	G	A	FCGBP	c.4585C>T	NM_003890.2	NP_003881.2:p.(Pro1529Ser)	NC_000019.9:g.40408254G>A	VUS	2 labs	90bad48376
10:112350743 SMC3 A>G	10	112350743	112350743	A	G	SMC3	c.1671-6A>G	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112350743A>G	(Likely) benign	2 labs	90bee716dc
9:2039776 SMARCA2 A>ACAGCAGCAG	9	2039776	2039817	A	ACAGCAGCAG	SMARCA2	c.699_707dup	NM_003070.5	NP_003061.3:p.(Gln236_Gln238dup)	NC_000009.11:g.2039809_2039817dup	(Likely) benign	4 labs	90d39db6a3
1:17349141 SDHB A>T	1	17349141	17349141	A	T	SDHB	c.727T>A	NM_003000.3	NP_002991.2:p.(Cys243Ser)	NC_000001.10:g.17349141A>T	(Likely) pathogenic	2 labs	fd9969e345
8:144997642 PLEC G>A	8	144997642	144997642	G	A	PLEC	c.6536C>T	NM_000445.5	NP_000436.2:p.(Ala2179Val)	NC_000008.10:g.144997642G>A	VUS	2 labs	90e3792a34
16:88901673 GALNS G>A	16	88901673	88901673	G	A	GALNS	c.846C>T	NM_000512.4	NP_000503.1:p.(Phe282=)	NC_000016.9:g.88901673G>A	(Likely) benign	2 labs	90e593af99
13:32950821 BRCA2 C>T	13	32950821	32950821	C	T	BRCA2	c.8647C>T	NM_000059.3	NP_000050.2:p.(Pro2883Ser)	NC_000013.10:g.32950821C>T	(Likely) benign	2 labs	90e6bc797d
16:56533694 BBS2 T>G	16	56533694	56533694	T	G	BBS2	c.1523A>C	NM_031885.5	NP_114091.4:p.(Gln508Pro)	NC_000016.9:g.56533694T>G	VUS	3 labs	90e48fca29
17:62038550 SCN4A T>C	17	62038550	62038550	T	C	SCN4A	c.1845+3A>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62038550T>C	(Likely) benign	2 labs	90ea08c155
16:84209738 DNAAF1 T>C	16	84209738	84209738	T	C	DNAAF1	c.1898T>C	NM_178452.6	NP_848547.4:p.(Leu633Ser)	NC_000016.9:g.84209738T>C	(Likely) benign	2 labs	90ec3079a9
2:27706480 IFT172 C>G	2	27706480	27706480	C	G	IFT172	c.449G>C	NM_015662.2	NP_056477.1:p.(Gly150Ala)	NC_000002.11:g.27706480C>G	(Likely) benign	2 labs	90ff727205
9:13110705 MPDZ G>T	9	13110705	13110705	G	T	MPDZ	c.5672C>A	NM_003829.4	NP_003820.2:p.(Ser1891Tyr)	NC_000009.11:g.13110705G>T	VUS	2 labs	90ffbd062b
X:109943904 CHRDL1 C>T	X	109943904	109943904	C	T	CHRDL1	c.587G>A	NM_001143981.1	NP_001137453.1:p.(Arg196Gln)	NC_000023.10:g.109943904C>T	(Likely) benign	2 labs	9101f38b5e
2:179430746 TTN C>T	2	179430746	179430746	C	T	TTN	c.80113G>A	NM_001267550.1	NP_001254479.1:p.(Glu26705Lys)	NC_000002.11:g.179430746C>T	VUS	2 labs	9101fd4aec
19:11216083 LDLR C>A	19	11216083	11216083	C	A	LDLR	c.501C>A	NM_000527.5	NP_000518.1:p.(Cys167Ter)	NC_000019.9:g.11216083C>A	(Likely) pathogenic	2 labs	fda0fb66b2
9:139333269 INPP5E G>C	9	139333269	139333269	G	C	INPP5E	c.603C>G	NM_019892.5	NP_063945.2:p.(Ile201Met)	NC_000009.11:g.139333269G>C	(Likely) benign	2 labs	910681c5b2
20:19970853 RIN2 G>A	20	19970853	19970853	G	A	RIN2	c.2113G>A	NM_001242581.2	NP_001229510.1:p.(Val705Ile)	NC_000020.10:g.19970853G>A	(Likely) benign	2 labs	9105bd548e
X:110644494 DCX A>G	X	110644494	110644494	A	G	DCX	c.429T>C	NM_178153.2	NP_835366.1:p.(Asn143=)	NC_000023.10:g.110644494A>G	(Likely) benign	2 labs	911248f407
20:30407946 MYLK2 C>T	20	30407946	30407946	C	T	MYLK2	c.70C>T	NM_033118.3	NP_149109.1:p.(Pro24Ser)	NC_000020.10:g.30407946C>T	(Likely) benign	2 labs	9116b6f32a
4:88537069 DSPP T>TGATAGCAGC	4	88537069	88537078	T	TGATAGCAGC	DSPP	c.3263_3264insCGATAGCAG	NM_014208.3	NP_055023.2:p.(Asp1089_Ser1091dup)	NC_000004.11:g.88537077_88537078insCGATAGCAG	(Likely) benign	2 labs	911877f991
X:153589662 FLNA C>T	X	153589662	153589662	C	T	FLNA	c.3207+14G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153589662C>T	(Likely) benign	2 labs	911921a4b9
9:368021 DOCK8 C>A	9	368021	368021	C	A	DOCK8	c.1683C>A	NM_203447.4	NP_982272.2:p.(Asn561Lys)	NC_000009.11:g.368021C>A	VUS	3 labs	9125948791
10:50686483 ERCC6 G>A	10	50686483	50686483	G	A	ERCC6	c.2203C>T	NM_000124.2	NP_000115.1:p.(Arg735Ter)	NC_000010.10:g.50686483G>A	(Likely) pathogenic	2 labs	912c0105d5
13:37399630 RFXAP A>G	13	37399630	37399630	A	G	RFXAP	c.666A>G	NM_000538.3	NP_000529.1:p.(Ala222=)	NC_000013.10:g.37399630A>G	(Likely) benign	2 labs	912f7c317e
9:139571989 AGPAT2 G>A	9	139571989	139571989	G	A	AGPAT2	c.202C>T	NM_006412.3	NP_006403.2:p.(Arg68Ter)	NC_000009.11:g.139571989G>A	(Likely) pathogenic	3 labs	91314a7513
21:44839104 SIK1 G>A	21	44839104	44839104	G	A	SIK1	c.1259C>T	NM_173354.4	NP_775490.2:p.(Pro420Leu)	NC_000021.8:g.44839104G>A	(Likely) benign	2 labs	91317e1540
1:235969981 LYST C>T	1	235969981	235969981	C	T	LYST	c.2455G>A	NM_001301365.1	NP_001288294.1:p.(Ala819Thr)	NC_000001.10:g.235969981C>T	VUS	2 labs	9134436da7
9:140130580 SLC34A3 C>T	9	140130580	140130580	C	T	SLC34A3	c.1512C>T	NM_001177317.1	NP_001170788.1:p.(Phe504=)	NC_000009.11:g.140130580C>T	(Likely) benign	3 labs	913f627e52
12:6442636 TNFRSF1A G>A	12	6442636	6442636	G	A	TNFRSF1A	c.369C>T	NM_001065.3	NP_001056.1:p.(Thr123=)	NC_000012.11:g.6442636G>A	(Likely) benign	2 labs	9149deb158
20:62309554 RTEL1 C>T	20	62309554	62309554	C	T	RTEL1	c.958+18C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62309554C>T	(Likely) benign	2 labs	914b910611
11:6631361 ILK C>T	11	6631361	6631361	C	T	ILK	c.1079-18C>T	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6631361C>T	(Likely) benign	2 labs	914be31c5e
2:179646930 TTN T>C	2	179646930	179646930	T	C	TTN	c.3380+9A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179646930T>C	(Likely) benign	3 labs	914bc16d5a
9:32984840 APTX G>A	9	32984840	32984840	G	A	APTX	c.559C>T	NM_175073.2	NP_778243.1:p.(Gln187Ter)	NC_000009.11:g.32984840G>A	(Likely) pathogenic	2 labs	915282ed96
2:179398195 TTN C>G	2	179398195	179398195	C	G	TTN	c.103147G>C	NM_001267550.2	NP_001254479.2:p.(Glu34383Gln)	NC_000002.11:g.179398195C>G	(Likely) benign	6 labs	9154e3507b
3:37067125 MLH1 C>A	3	37067125	37067125	C	A	MLH1	c.316-3C>A	NM_001258274.2	NP_001245203.1:p.?	NC_000003.11:g.37067125C>A	VUS	2 labs	9154a82838
9:126125186 CRB2 C>T	9	126125186	126125186	C	T	CRB2	c.137C>T	NM_173689.6	NP_775960.4:p.(Pro46Leu)	NC_000009.11:g.126125186C>T	(Likely) benign	3 labs	915593c8c9
5:178413201 GRM6 G>A	5	178413201	178413201	G	A	GRM6	c.2054C>T	NM_000843.4	NP_000834.2:p.(Ser685Leu)	NC_000005.9:g.178413201G>A	VUS	2 labs	916147457d
16:8898702 PMM2 T>C	16	8898702	8898702	T	C	PMM2	c.255+2T>C	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8898702T>C	(Likely) pathogenic	3 labs	9169c8ff96
6:152605134 SYNE1 C>T	6	152605134	152605134	C	T	SYNE1	c.18186G>A	NM_182961.4	NP_892006.3:p.(Ser6062=)	NC_000006.11:g.152605134C>T	(Likely) benign	2 labs	916a3e602f
8:145583319 SLC52A2 C>T	8	145583319	145583319	C	T	SLC52A2	c.167C>T	NM_001363118.1	NP_001350047.1:p.(Ala56Val)	NC_000008.10:g.145583319C>T	VUS	2 labs	916898d69a
X:153132164 L1CAM C>T	X	153132164	153132164	C	T	L1CAM	c.2371G>A	NM_001278116.1	NP_001265045.1:p.(Val791Ile)	NC_000023.10:g.153132164C>T	(Likely) benign	2 labs	916c056035
13:37393971 RFXAP G>A	13	37393971	37393971	G	A	RFXAP	c.477G>A	NM_000538.3	NP_000529.1:p.(Pro159=)	NC_000013.10:g.37393971G>A	(Likely) benign	2 labs	917310aaf6
17:79479342 ACTG1 G>A	17	79479342	79479342	G	A	ACTG1	c.39C>T	NM_001199954.2	NP_001186883.1:p.(Gly13=)	NC_000017.10:g.79479342G>A	(Likely) benign	2 labs	917e3f6567
22:21351542 LZTR1 C>T	22	21351542	21351542	C	T	LZTR1	c.2428C>T	NM_006767.3	NP_006758.2:p.(Arg810Trp)	NC_000022.10:g.21351542C>T	VUS	2 labs	91808f1463
19:38993560 RYR1 C>T	19	38993560	38993560	C	T	RYR1	c.7876C>T	NM_000540.2	NP_000531.2:p.(Leu2626=)	NC_000019.9:g.38993560C>T	(Likely) benign	2 labs	9182087b22
9:433978 DOCK8 A>G	9	433978	433978	A	G	DOCK8	c.4886+3A>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.433978A>G	(Likely) benign	2 labs	fdbbfd84de
13:32893369 BRCA2 G>C	13	32893369	32893369	G	C	BRCA2	c.223G>C	NM_000059.4	NP_000050.3:p.(Ala75Pro)	NC_000013.10:g.32893369G>C	(Likely) benign	5 labs	91806daf49
11:22257752 ANO5 G>T	11	22257752	22257752	G	T	ANO5	c.692G>T	NM_213599.3	NP_998764.1:p.(Gly231Val)	NC_000011.9:g.22257752G>T	(Likely) pathogenic	4 labs	918afae8d1
12:80838610 PTPRQ AGTGACAACAAAT>A	12	80838610	80838624	AGTGACAACAAAT	A	PTPRQ	c.147_158del	NM_001145026.2	NP_001138498.1:p.(Thr51_Thr54del)	NC_000012.11:g.80838613_80838624del	(Likely) benign	2 labs	918e1f8859
6:32820949 TAP1 G>A	6	32820949	32820949	G	A	TAP1	c.645C>T	NM_000593.5	NP_000584.2:p.(His215=)	NC_000006.11:g.32820949G>A	(Likely) benign	2 labs	91964c554d
4:88536824 DSPP A>G	4	88536824	88536824	A	G	DSPP	c.3010A>G	NM_014208.3	NP_055023.2:p.(Ser1004Gly)	NC_000004.11:g.88536824A>G	(Likely) benign	2 labs	91974e6790
5:1217062 SLC6A19 T>G	5	1217062	1217062	T	G	SLC6A19	c.1173+2T>G	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1217062T>G	(Likely) pathogenic	3 labs	91a7162c89
8:141565991 AGO2 G>A	8	141565991	141565991	G	A	AGO2	c.1269+4C>T	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141565991G>A	(Likely) benign	2 labs	fdbf355dc8
8:94792861 TMEM67 T>C	8	94792861	94792861	T	C	TMEM67	c.755T>C	NM_153704.5	NP_714915.3:p.(Met252Thr)	NC_000008.10:g.94792861T>C	(Likely) pathogenic	3 labs	91aa02aa4f
4:5755565 EVC G>A	4	5755565	5755565	G	A	EVC	c.1369G>A	NM_153717.2	NP_714928.1:p.(Glu457Lys)	NC_000004.11:g.5755565G>A	(Likely) benign	3 labs	91ab3927c2
22:35730426 TOM1 C>T	22	35730426	35730426	C	T	TOM1	c.1133C>T	NM_005488.3	NP_005479.1:p.(Ala378Val)	NC_000022.10:g.35730426C>T	(Likely) benign	2 labs	91ad8c6293
13:111098229 COL4A2 G>A	13	111098229	111098229	G	A	COL4A2	c.1011G>A	NM_001846.3	NP_001837.2:p.(Lys337=)	NC_000013.10:g.111098229G>A	(Likely) benign	2 labs	91c126250e
1:103377744 COL11A1 C>T	1	103377744	103377744	C	T	COL11A1	c.4093G>A	NM_080629.2	NP_542196.2:p.(Ala1365Thr)	NC_000001.10:g.103377744C>T	(Likely) benign	2 labs	91ce795c76
17:29533315 NF1 C>T	17	29533315	29533315	C	T	NF1	c.1318C>T	NM_000267.3	NP_000258.1:p.(Arg440Ter)	NC_000017.10:g.29533315C>T	(Likely) pathogenic	2 labs	91d4dd74c6
10:73560498 CDH23 G>A	10	73560498	73560498	G	A	CDH23	c.7468G>A	NM_022124.5	NP_071407.4:p.(Glu2490Lys)	NC_000010.10:g.73560498G>A	VUS	2 labs	91da688725
22:31011643 TCN2 C>T	22	31011643	31011643	C	T	TCN2				NC_000022.10:g.31011643C>T	VUS	2 labs	91dad9df15
2:136627911 MCM6 C>T	2	136627911	136627911	C	T	MCM6	c.275G>A	NM_005915.5	NP_005906.2:p.(Arg92Gln)	NC_000002.11:g.136627911C>T	(Likely) benign	2 labs	91df92dd89
8:106813888 ZFPM2 G>T	8	106813888	106813888	G	T	ZFPM2	c.1578G>T	NM_012082.3	NP_036214.2:p.(Arg526=)	NC_000008.10:g.106813888G>T	(Likely) benign	2 labs	91e0ff10a0
17:41245465 BRCA1 C>T	17	41245465	41245465	C	T	BRCA1	c.2083G>A	NM_007294.4	NP_009225.1:p.(Asp695Asn)	NC_000017.10:g.41245465C>T	(Likely) benign	3 labs	fdcd4360cd
2:179410976 TTN G>A	2	179410976	179410976	G	A	TTN	c.95082C>T	NM_001267550.2	NP_001254479.2:p.(Ser31694=)	NC_000002.11:g.179410976G>A	(Likely) benign	2 labs	91e276fe5a
12:32945373 PKP2 G>T	12	32945373	32945373	G	T	PKP2	c.2631C>A	NM_004572.4	NP_004563.2:p.(His877Gln)	NC_000012.11:g.32945373G>T	(Likely) benign	2 labs	fdd3ed8a95
2:219204562 PNKD G>A	2	219204562	219204562	G	A	PNKD	c.293G>A	NM_015488.5	NP_056303.3:p.(Arg98His)	NC_000002.11:g.219204562G>A	VUS	2 labs	91ffada547
14:102452266 DYNC1H1 T>C	14	102452266	102452266	T	C	DYNC1H1	c.1704T>C	NM_001376.5	NP_001367.2:p.(Leu568=)	NC_000014.8:g.102452266T>C	(Likely) benign	2 labs	91ff5e4d3c
2:47709915 MSH2 C>G	2	47709915	47709915	C	G	MSH2	c.2635-3C>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47709915C>G	VUS	3 labs	920b4c0d6b
10:21117460 NEBL G>A	10	21117460	21117460	G	A	NEBL	c.1775C>T	NM_006393.2	NP_006384.1:p.(Ala592Val)	NC_000010.10:g.21117460G>A	(Likely) benign	2 labs	9220d0ed65
6:152711428 SYNE1 C>T	6	152711428	152711428	C	T	SYNE1	c.8164G>A	NM_182961.3	NP_892006.3:p.(Val2722Ile)	NC_000006.11:g.152711428C>T	(Likely) benign	2 labs	9223abcb1e
2:233709083 GIGYF2 C>G	2	233709083	233709083	C	G	GIGYF2	c.3104C>G	NM_001103146.3	NP_001096616.1:p.(Ser1035Cys)	NC_000002.11:g.233709083C>G	VUS	2 labs	922d871f4a
1:113051966 WNT2B G>A	1	113051966	113051966	G	A	WNT2B	c.82G>A	NM_024494.3	NP_078613.1:p.(Ala28Thr)	NC_000001.10:g.113051966G>A	(Likely) benign	2 labs	92324772a6
4:187540380 FAT1 G>A	4	187540380	187540380	G	A	FAT1	c.7360C>T	NM_005245.3	NP_005236.2:p.(Arg2454Trp)	NC_000004.11:g.187540380G>A	VUS	2 labs	923a1dacac
X:47003927 NDUFB11 G>T	X	47003927	47003927	G	T	NDUFB11	c.152C>A	NM_019056.6	NP_061929.2:p.(Pro51Gln)	NC_000023.10:g.47003927G>T	(Likely) benign	2 labs	923c7a76d3
16:57945788 CNGB1 G>A	16	57945788	57945788	G	A	CNGB1	c.2370-9C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57945788G>A	(Likely) benign	2 labs	923fb3688a
7:100421340 EPHB4 C>T	7	100421340	100421340	C	T	EPHB4	c.337G>A	NM_004444.5	NP_004435.3:p.(Val113Ile)	NC_000007.13:g.100421340C>T	(Likely) benign	2 labs	925393ad94
16:56921879 SLC12A3 G>A	16	56921879	56921879	G	A	SLC12A3	c.2221G>A	NM_000339.2	NP_000330.2:p.(Gly741Arg)	NC_000016.9:g.56921879G>A	(Likely) pathogenic	4 labs	925014d827
2:241689925 KIF1A G>C	2	241689925	241689925	G	C	KIF1A	c.2898C>G	NM_001244008.2	NP_001230937.1:p.(Pro966=)	NC_000002.11:g.241689925G>C	(Likely) benign	2 labs	9248e97df7
17:436121 VPS53 G>A	17	436121	436121	G	A	VPS53	c.2046C>T	NM_001128159.2	NP_001121631.1:p.(Leu682=)	NC_000017.10:g.436121G>A	(Likely) benign	2 labs	92589f3a61
11:644614 DEAF1 G>C	11	644614	644614	G	C	DEAF1	c.1634C>G	NM_021008.3	NP_066288.2:p.(Ala545Gly)	NC_000011.9:g.644614G>C	(Likely) benign	2 labs	92591a439a
2:179403796 TTN T>C	2	179403796	179403796	T	C	TTN	c.98866A>G	NM_001267550.2	NP_001254479.2:p.(Met32956Val)	NC_000002.11:g.179403796T>C	VUS	3 labs	fde46e4a63
13:39435583 FREM2 G>A	13	39435583	39435583	G	A	FREM2	c.7535G>A	NM_207361.5	NP_997244.4:p.(Arg2512His)	NC_000013.10:g.39435583G>A	VUS	2 labs	926150a14b
11:6630028 ILK TC>T	11	6630028	6630033	TC	T	ILK	c.448+13del	NM_001014795.3	NP_001014795.1:p.?	NC_000011.9:g.6630033del	(Likely) benign	2 labs	9267197fb6
11:94197288 MRE11 C>T	11	94197288	94197288	C	T	MRE11	c.1216G>A	NM_005590.3	NP_005581.2:p.(Glu406Lys)	NC_000011.9:g.94197288C>T	(Likely) benign	2 labs	926962c07e
17:27061830 NEK8 C>G	17	27061830	27061830	C	G	NEK8	c.294C>G	NM_178170.3	NP_835464.1:p.(Ser98=)	NC_000017.10:g.27061830C>G	(Likely) benign	2 labs	926ccf3d05
2:179401697 TTN A>T	2	179401697	179401697	A	T	TTN	c.100139T>A	NM_001267550.2	NP_001254479.2:p.(Val33380Glu)	NC_000002.11:g.179401697A>T	VUS	4 labs	927dbe5b42
17:29576139 NF1 T>A	17	29576139	29576139	T	A	NF1	c.4110+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576139T>A	(Likely) pathogenic	2 labs	927ed4fcf3
18:2922056 LPIN2 G>A	18	2922056	2922056	G	A	LPIN2	c.2316C>T	NM_014646.2	NP_055461.1:p.(Ser772=)	NC_000018.9:g.2922056G>A	(Likely) benign	2 labs	927f641854
16:88789357 PIEZO1 T>G	16	88789357	88789357	T	G	PIEZO1	c.4556A>C	NM_001142864.4	NP_001136336.2:p.(Gln1519Pro)	NC_000016.9:g.88789357T>G	VUS	2 labs	928f95c775
X:50341534 SHROOM4 A>G	X	50341534	50341534	A	G	SHROOM4	c.3944T>C	NM_020717.4	NP_065768.2:p.(Ile1315Thr)	NC_000023.10:g.50341534A>G	(Likely) benign	3 labs	92908e11bb
X:99663442 PCDH19 C>T	X	99663442	99663442	C	T	PCDH19	c.154G>A	NM_001184880.1	NP_001171809.1:p.(Ala52Thr)	NC_000023.10:g.99663442C>T	VUS	2 labs	9290f89b81
2:32289031 SPAST C>T	2	32289031	32289031	C	T	SPAST	c.131C>T	NM_014946.4	NP_055761.2:p.(Ser44Leu)	NC_000002.11:g.32289031C>T	(Likely) benign	4 labs	fdeb9e968e
1:201341266 TNNT2 C>T	1	201341266	201341266	C	T	TNNT2	c.52+7G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201341266C>T	(Likely) benign	3 labs	92950379db
12:44166106 IRAK4 G>C	12	44166106	44166106	G	C	IRAK4	c.59G>C	NM_001351338.1	NP_001338267.1:p.(Ser20Thr)	NC_000012.11:g.44166106G>C	(Likely) benign	2 labs	929e1004ea
3:193374903 OPA1 G>A	3	193374903	193374903	G	A	OPA1	c.2213G>A	NM_130837.3	NP_570850.2:p.(Arg738His)	NC_000003.11:g.193374903G>A	VUS	2 labs	92b7a6a618
X:23353328 PTCHD1 C>T	X	23353328	23353328	C	T	PTCHD1	c.336C>T	NM_173495.2	NP_775766.2:p.(Thr112=)	NC_000023.10:g.23353328C>T	(Likely) benign	2 labs	92b0ad128a
17:41215368 BRCA1 T>C	17	41215368	41215368	T	C	BRCA1	c.5175A>G	NM_007294.4	NP_009225.1:p.(Glu1725=)	NC_000017.10:g.41215368T>C	(Likely) benign	4 labs	92ad7de826
12:111352148 MYL2 A>G	12	111352148	111352148	A	G	MYL2	c.170-54T>C	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111352148A>G	(Likely) benign	2 labs	fdf6481263
X:119064063 NKAP C>T	X	119064063	119064063	C	T	NKAP	c.989G>A	NM_024528.3	NP_078804.2:p.(Arg330His)	NC_000023.10:g.119064063C>T	(Likely) pathogenic	2 labs	92c13d64b6
16:28997041 LAT C>T	16	28997041	28997041	C	T	LAT	c.108C>T	NM_014387.3	NP_055202.1:p.(Tyr36=)	NC_000016.9:g.28997041C>T	(Likely) benign	2 labs	92c4f3c45b
7:6045521 PMS2 A>G	7	6045521	6045521	A	G	PMS2	c.163+2T>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6045521A>G	(Likely) pathogenic	3 labs	92c586f302
17:17698203 RAI1 C>T	17	17698203	17698203	C	T	RAI1	c.1941C>T	NM_030665.4	NP_109590.3:p.(Ser647=)	NC_000017.10:g.17698203C>T	(Likely) benign	3 labs	92cdf2fbcd
5:147475388 SPINK5 C>T	5	147475388	147475388	C	T	SPINK5	c.802C>T	NM_001127698.2	NP_001121170.1:p.(Arg268Cys)	NC_000005.9:g.147475388C>T	(Likely) benign	4 labs	92e25e7ca0
8:145584287 SLC52A2 G>A	8	145584287	145584287	G	A	SLC52A2	c.1039G>A	NM_024531.4	NP_078807.1:p.(Val347Met)	NC_000008.10:g.145584287G>A	(Likely) benign	3 labs	92dd5d35d3
17:16221214 PIGL C>T	17	16221214	16221214	C	T	PIGL	c.652C>T	NM_004278.3	NP_004269.1:p.(Gln218Ter)	NC_000017.10:g.16221214C>T	(Likely) pathogenic	2 labs	92dff57bd5
2:20133221 WDR35 C>T	2	20133221	20133221	C	T	WDR35	c.2632G>A	NM_001006657.1	NP_001006658.1:p.(Ala878Thr)	NC_000002.11:g.20133221C>T	(Likely) benign	2 labs	92eaab0c00
9:135773000 TSC1 G>A	9	135773000	135773000	G	A	TSC1	c.2626-3C>T	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773000G>A	(Likely) benign	3 labs	92effe9db1
6:32017316 TNXB G>C	6	32017316	32017316	G	C	TNXB	c.9482C>G	NM_019105.6	NP_061978.6:p.(Ala3161Gly)	NC_000006.11:g.32017316G>C	(Likely) benign	2 labs	92f79bd73e
2:239258054 TRAF3IP1 G>A	2	239258054	239258054	G	A	TRAF3IP1	c.1451+5G>A	NM_015650.3	NP_056465.2:p.?	NC_000002.11:g.239258054G>A	VUS	2 labs	92fdc1f58a
10:88476527 LDB3 C>T	10	88476527	88476527	C	T	LDB3	c.1690C>T	NM_001171610.1	NP_001165081.1:p.(Arg564Trp)	NC_000010.10:g.88476527C>T	VUS	2 labs	92fe05f95c
3:37050304 MLH1 G>A	3	37050304	37050304	G	A	MLH1	c.454-1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37050304G>A	(Likely) pathogenic	3 labs	92fe83cc25
4:509982 PIGG A>G	4	509982	509982	A	G	PIGG	c.-99+8A>G	NM_001345994.1	NP_001332923.1:p.?	NC_000004.11:g.509982A>G	(Likely) benign	2 labs	93034984df
14:92488106 TRIP11 C>A	14	92488106	92488106	C	A	TRIP11	c.382G>T	NM_004239.4	NP_004230.2:p.(Ala128Ser)	NC_000014.8:g.92488106C>A	(Likely) benign	2 labs	931371008d
5:36985631 NIPBL A>G	5	36985631	36985631	A	G	NIPBL	c.2349A>G	NM_015384.4	NP_056199.2:p.(Lys783=)	NC_000005.9:g.36985631A>G	(Likely) benign	2 labs	9313fe589c
2:179414321 TTN G>T	2	179414321	179414321	G	T	TTN	c.92128C>A	NM_001267550.2	NP_001254479.2:p.(Pro30710Thr)	NC_000002.11:g.179414321G>T	VUS	2 labs	fe105357f6
17:48272790 COL1A1 C>T	17	48272790	48272790	C	T	COL1A1	c.1200+5G>A	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48272790C>T	VUS	2 labs	932bf5a74b
16:89590650 SPG7 CGGCCTGTGAGTGAGGGTGCGGGA>C	16	89590650	89590691	CGGCCTGTGAGTGAGGGTGCGGGA	C	SPG7	c.618+14_618+36del	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590669_89590691del	(Likely) benign	2 labs	93435c8a7c
5:137219264 MYOT G>T	5	137219264	137219264	G	T	MYOT	c.1008G>T	NM_006790.2	NP_006781.1:p.(Val336=)	NC_000005.9:g.137219264G>T	(Likely) benign	3 labs	934d08d730
12:52139683 SCN8A A>T	12	52139683	52139683	A	T	SCN8A	c.1999-4A>T	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52139683A>T	(Likely) benign	2 labs	934a44885e
9:140611472 EHMT1 C>T	9	140611472	140611472	C	T	EHMT1	c.480C>T	NM_024757.4	NP_079033.4:p.(Gly160=)	NC_000009.11:g.140611472C>T	(Likely) benign	2 labs	93619391c5
2:47672797 MSH2 G>T	2	47672797	47672797	G	T	MSH2	c.1386+1G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672797G>T	(Likely) pathogenic	2 labs	9363369340
2:179615060 TTN C>T	2	179615060	179615060	C	T	TTN	c.12067G>A	NM_133379.5	NP_596870.2:p.(Gly4023Arg)	NC_000002.11:g.179615060C>T	(Likely) benign	4 labs	fe25c7be29
11:2608860 KCNQ1 C>T	11	2608860	2608860	C	T	KCNQ1	c.1189C>T	NM_000218.3	NP_000209.2:p.(Arg397Trp)	NC_000011.9:g.2608860C>T	VUS	6 labs	fe2736c97c
12:21953959 ABCC9 A>G	12	21953959	21953959	A	G	ABCC9	c.*19T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21953959A>G	(Likely) benign	3 labs	9376ac1d07
16:8941632 PMM2 G>A	16	8941632	8941632	G	A	PMM2	c.691G>A	NM_000303.3	NP_000294.1:p.(Val231Met)	NC_000016.9:g.8941632G>A	(Likely) pathogenic	3 labs	fe2b45d8f5
22:43023385 CYB5R3 C>T	22	43023385	43023385	C	T	CYB5R3	c.489G>A	NM_001129819.2	NP_001123291.1:p.(Pro163=)	NC_000022.10:g.43023385C>T	(Likely) benign	2 labs	9383b60902
18:28648870 DSC2 C>T	18	28648870	28648870	C	T	DSC2	c.2498G>A	NM_004949.5	NP_004940.1:p.(Arg833His)	NC_000018.9:g.28648870C>T	(Likely) benign	3 labs	9383b4ca28
16:88502222 ZNF469 C>T	16	88502222	88502222	C	T	ZNF469	c.8344C>T	NM_001367624.2	NP_001354553.1:p.(His2782Tyr)	NC_000016.9:g.88502222C>T	(Likely) benign	2 labs	939127f026
18:28667778 DSC2 T>C	18	28667778	28667778	T	C	DSC2	c.631-2A>G	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28667778T>C	(Likely) pathogenic	2 labs	9395a69fe3
4:123664445 BBS12 C>T	4	123664445	123664445	C	T	BBS12	c.1398C>T	NM_001178007.1	NP_001171478.1:p.(Gly466=)	NC_000004.11:g.123664445C>T	(Likely) benign	2 labs	93956f32ac
2:179417463 TTN T>A	2	179417463	179417463	T	A	TTN	c.90164A>T	NM_001267550.1	NP_001254479.1:p.(Asp30055Val)	NC_000002.11:g.179417463T>A	VUS	2 labs	939dd834b8
15:52645859 MYO5A G>A	15	52645859	52645859	G	A	MYO5A	c.3568-4C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52645859G>A	(Likely) benign	2 labs	93a60b613e
22:31008882 TCN2 G>A	22	31008882	31008882	G	A	TCN2	c.280G>A	NM_001184726.1	NP_001171655.1:p.(Gly94Ser)	NC_000022.10:g.31008882G>A	(Likely) benign	3 labs	93b744b6a7
7:94039091 COL1A2 C>T	7	94039091	94039091	C	T	COL1A2	c.993C>T	NM_000089.3	NP_000080.2:p.(Gly331=)	NC_000007.13:g.94039091C>T	(Likely) benign	2 labs	93bc409717
2:234668977 UGT1A1 T>G	2	234668977	234668977	T	G	UGT1A1	c.44T>G	NM_000463.3	NP_000454.1:p.(Leu15Arg)	NC_000002.11:g.234668977T>G	(Likely) pathogenic	2 labs	93c5b4506f
3:127774355 SEC61A1 C>G	3	127774355	127774355	C	G	SEC61A1	c.76-4C>G	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127774355C>G	(Likely) benign	2 labs	fe3fe98db9
7:33217084 BBS9 C>T	7	33217084	33217084	C	T	BBS9	c.329-6C>T	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33217084C>T	(Likely) benign	2 labs	93c77f7a60
12:21331549 SLCO1B1 T>C	12	21331549	21331549	T	C	SLCO1B1	c.521T>C	NM_006446.5	NP_006437.3:p.(Val174Ala)	NC_000012.11:g.21331549T>C	(Likely) benign	4 labs	fe42602683
5:122722370 CEP120 T>TA	5	122722370	122722392	T	TA	CEP120	c.1431-10dup	NM_153223.3	NP_694955.2:p.?	NC_000005.9:g.122722392dup	(Likely) benign	2 labs	93d03554ed
10:56077209 PCDH15 G>A	10	56077209	56077209	G	A	PCDH15	c.721-8C>T	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.56077209G>A	(Likely) benign	2 labs	fe43111aa3
4:79291130 FRAS1 C>T	4	79291130	79291130	C	T	FRAS1	c.2861C>T	NM_025074.7	NP_079350.5:p.(Thr954Met)	NC_000004.11:g.79291130C>T	(Likely) benign	2 labs	93d99c9405
14:23899129 MYH7 G>A	14	23899129	23899129	G	A	MYH7	c.1000-7C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23899129G>A	(Likely) benign	3 labs	93db0cb1aa
13:51519606 RNASEH2B T>G	13	51519606	51519606	T	G	RNASEH2B	c.554T>G	NM_001142279.2	NP_001135751.1:p.(Val185Gly)	NC_000013.10:g.51519606T>G	(Likely) pathogenic	2 labs	93df9ae3c1
2:179422081 TTN C>A	2	179422081	179422081	C	A	TTN	c.87908G>T	NM_001267550.2	NP_001254479.2:p.(Ser29303Ile)	NC_000002.11:g.179422081C>A	VUS	2 labs	fe4c0c3234
3:4752001 ITPR1 C>T	3	4752001	4752001	C	T	ITPR1	c.4816-8C>T	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4752001C>T	(Likely) benign	3 labs	93e7d3618d
16:88783002 PIEZO1 G>A	16	88783002	88783002	G	A	PIEZO1	c.6891C>T	NM_001142864.4	NP_001136336.2:p.(Ala2297=)	NC_000016.9:g.88783002G>A	(Likely) benign	2 labs	93e63e3715
10:75857060 VCL G>A	10	75857060	75857060	G	A	VCL	c.1842G>A	NM_014000.3	NP_054706.1:p.(Thr614=)	NC_000010.10:g.75857060G>A	(Likely) benign	4 labs	93f4ae1c0c
2:179498530 TTN T>G	2	179498530	179498530	T	G	TTN	c.42682+14A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179498530T>G	(Likely) benign	2 labs	93ef41354a
3:15685995 BTD G>A	3	15685995	15685995	G	A	BTD	c.632G>A	NM_000060.4	NP_000051.1:p.(Arg211His)	NC_000003.11:g.15685995G>A	VUS	2 labs	93f552135b
16:85699705 GSE1 C>T	16	85699705	85699705	C	T	GSE1	c.2882C>T	NM_014615.5	NP_055430.1:p.(Ser961Leu)	NC_000016.9:g.85699705C>T	(Likely) benign	2 labs	93f5fd5f02
2:179436481 TTN G>A	2	179436481	179436481	G	A	TTN	c.74378C>T	NM_001267550.2	NP_001254479.2:p.(Ser24793Leu)	NC_000002.11:g.179436481G>A	VUS	2 labs	fe5298f407
2:179416913 TTN C>A	2	179416913	179416913	C	A	TTN	c.90714G>T	NM_001267550.1	NP_001254479.1:p.(Lys30238Asn)	NC_000002.11:g.179416913C>A	VUS	2 labs	94042a3af1
X:47466421 SYN1 A>C	X	47466421	47466421	A	C	SYN1	c.450T>G	NM_006950.3	NP_008881.2:p.(Asp150Glu)	NC_000023.10:g.47466421A>C	(Likely) benign	2 labs	9414caec99
16:2158623 PKD1 T>C	16	2158623	2158623	T	C	PKD1	c.6545A>G	NM_001009944.2	NP_001009944.2:p.(Gln2182Arg)	NC_000016.9:g.2158623T>C	(Likely) benign	3 labs	9416d185ff
4:15572069 CC2D2A T>C	4	15572069	15572069	T	C	CC2D2A	c.3544T>C	NM_001080522.2	NP_001073991.2:p.(Trp1182Arg)	NC_000004.11:g.15572069T>C	(Likely) pathogenic	2 labs	9418f64c1f
1:27106975 ARID1A C>T	1	27106975	27106975	C	T	ARID1A	c.6586C>T	NM_006015.4	NP_006006.3:p.(Leu2196=)	NC_000001.10:g.27106975C>T	(Likely) benign	2 labs	94193173fe
11:534332 HRAS G>A	11	534332	534332	G	A	HRAS	c.-10C>T	NM_176795.5	NP_789765.1:p.?	NC_000011.9:g.534332G>A	(Likely) benign	3 labs	941e15a819
7:55224463 EGFR C>T	7	55224463	55224463	C	T	EGFR	c.1145C>T	NM_005228.5	NP_005219.2:p.(Thr382Ile)	NC_000007.13:g.55224463C>T	VUS	2 labs	942286289f
14:51057698 ATL1 A>G	14	51057698	51057698	A	G	ATL1	c.322A>G	NM_001127713.1	NP_001121185.1:p.(Thr108Ala)	NC_000014.8:g.51057698A>G	(Likely) benign	2 labs	9422660f26
14:23902269 MYH7 C>T	14	23902269	23902269	C	T	MYH7	c.345+24G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23902269C>T	(Likely) benign	2 labs	9425e5f7ab
18:19751327 GATA6 G>A	18	19751327	19751327	G	A	GATA6	c.222G>A	NM_005257.5	NP_005248.2:p.(Pro74=)	NC_000018.9:g.19751327G>A	(Likely) benign	2 labs	9426aef3ea
6:111913009 TRAF3IP2 C>T	6	111913009	111913009	C	T	TRAF3IP2	c.281G>A	NM_001164281.2	NP_001157753.1:p.(Ser94Asn)	NC_000006.11:g.111913009C>T	(Likely) benign	2 labs	942b51babb
5:34945004 DNAJC21 G>A	5	34945004	34945004	G	A	DNAJC21	c.1016G>A	NM_001012339.3	NP_001012339.2:p.(Arg339Gln)	NC_000005.9:g.34945004G>A	VUS	2 labs	943769ec06
X:17744556 NHS T>C	X	17744556	17744556	T	C	NHS	c.2330T>C	NM_001291867.2	NP_001278796.1:p.(Phe777Ser)	NC_000023.10:g.17744556T>C	(Likely) benign	4 labs	944461db80
7:73470620 ELN AGTTGGAGGCATTCCTACTTACGGG>A	7	73470620	73470651	AGTTGGAGGCATTCCTACTTACGGG	A	ELN	c.1178_1201del	NM_000501.4	NP_000492.2:p.(Gly393_Gly400del)	NC_000007.13:g.73470628_73470651del	VUS	2 labs	944f7fcdec
17:42427630 GRN T>C	17	42427630	42427630	T	C	GRN	c.384T>C	NM_002087.4	NP_002078.1:p.(Asp128=)	NC_000017.10:g.42427630T>C	(Likely) benign	5 labs	fe6a442871
11:78369501 TENM4 G>A	11	78369501	78369501	G	A	TENM4	c.7912C>T	NM_001098816.3	NP_001092286.2:p.(Arg2638Trp)	NC_000011.9:g.78369501G>A	VUS	2 labs	945d655256
10:16893406 CUBN G>C	10	16893406	16893406	G	C	CUBN	c.9491C>G	NM_001081.3	NP_001072.2:p.(Ser3164Trp)	NC_000010.10:g.16893406G>C	(Likely) benign	2 labs	9465c13488
2:219924904 IHH TCTC>T	2	219924904	219924910	TCTC	T	IHH	c.283_285del	NM_002181.4	NP_002172.2:p.(Glu95del)	NC_000002.11:g.219924908_219924910del	(Likely) pathogenic	3 labs	94693b2039
4:126373784 FAT4 C>T	4	126373784	126373784	C	T	FAT4	c.11619C>T	NM_001291303.3	NP_001278232.1:p.(Cys3873=)	NC_000004.11:g.126373784C>T	(Likely) benign	2 labs	946b7073e8
8:6338306 MCPH1 C>A	8	6338306	6338306	C	A	MCPH1	c.2045C>A	NM_024596.4	NP_078872.2:p.(Thr682Asn)	NC_000008.10:g.6338306C>A	(Likely) benign	2 labs	9473e6488e
15:45392075 DUOX2 G>A	15	45392075	45392075	G	A	DUOX2	c.3200C>T	NM_014080.5	NP_054799.4:p.(Ser1067Leu)	NC_000015.9:g.45392075G>A	(Likely) benign	3 labs	9477f40b3a
16:2159988 PKD1 G>A	16	2159988	2159988	G	A	PKD1	c.5180C>T	NM_001009944.2	NP_001009944.2:p.(Pro1727Leu)	NC_000016.9:g.2159988G>A	VUS	2 labs	9475e9e38b
1:17312743 ATP13A2 C>T	1	17312743	17312743	C	T	ATP13A2	c.3214G>A	NM_001141974.3	NP_001135446.1:p.(Ala1072Thr)	NC_000001.10:g.17312743C>T	(Likely) benign	4 labs	fe6f04d034
3:19938251 EFHB A>AAC	3	19938251	19938253	A	AAC	EFHB	c.1651_1652dup	NM_144715.4	NP_653316.3:p.(Arg552PhefsTer5)	NC_000003.11:g.19938252_19938253dup	VUS	2 labs	9479de1517
2:179584978 TTN G>A	2	179584978	179584978	G	A	TTN	c.23391C>T	NM_001267550.1	NP_001254479.1:p.(Phe7797=)	NC_000002.11:g.179584978G>A	(Likely) benign	2 labs	947bfd6fd1
3:81810654 GBE1 C>T	3	81810654	81810654	C	T	GBE1	c.15G>A	NM_000158.3	NP_000149.3:p.(Met5Ile)	NC_000003.11:g.81810654C>T	(Likely) benign	2 labs	947eecf3f8
2:219678909 CYP27A1 C>T	2	219678909	219678909	C	T	CYP27A1	c.1183C>T	NM_000784.4	NP_000775.1:p.(Arg395Cys)	NC_000002.11:g.219678909C>T	(Likely) pathogenic	4 labs	fe6f29ab5b
20:62046433 KCNQ2 C>T	20	62046433	62046433	C	T	KCNQ2	c.1348G>A	NM_172107.3	NP_742105.1:p.(Val450Met)	NC_000020.10:g.62046433C>T	(Likely) benign	2 labs	948352a2f5
8:100396491 VPS13B A>T	8	100396491	100396491	A	T	VPS13B	c.2880A>T	NM_017890.4	NP_060360.3:p.(Leu960Phe)	NC_000008.10:g.100396491A>T	(Likely) benign	2 labs	9485829930
2:179483477 TTN T>C	2	179483477	179483477	T	C	TTN	c.46800A>G	NM_001267550.2	NP_001254479.2:p.(Glu15600=)	NC_000002.11:g.179483477T>C	(Likely) benign	4 labs	94923b603b
X:38212025 OTC C>T	X	38212025	38212025	C	T	OTC	c.76C>T	NM_000531.5	NP_000522.3:p.(Arg26Trp)	NC_000023.10:g.38212025C>T	(Likely) benign	2 labs	948f31b03e
4:1801487 FGFR3 G>A	4	1801487	1801487	G	A	FGFR3	c.393G>A	NM_000142.5	NP_000133.1:p.(Ser131=)	NC_000004.11:g.1801487G>A	(Likely) benign	4 labs	9489fde171
16:50746193 NOD2 C>T	16	50746193	50746193	C	T	NOD2	c.2371C>T	NM_022162.3	NP_071445.1:p.(Arg791Trp)	NC_000016.9:g.50746193C>T	VUS	2 labs	94cc357d90
1:21904131 ALPL T>C	1	21904131	21904131	T	C	ALPL	c.1565T>C	NM_000478.6	NP_000469.3:p.(Val522Ala)	NC_000001.10:g.21904131T>C	(Likely) benign	3 labs	94a38dcada
5:67576408 PIK3R1 G>A	5	67576408	67576408	G	A	PIK3R1	c.687G>A	NM_181523.2	NP_852664.1:p.(Ser229=)	NC_000005.9:g.67576408G>A	(Likely) benign	3 labs	94a7b71a05
X:110459733 PAK3 C>T	X	110459733	110459733	C	T	PAK3	c.1600C>T	NM_001128168.2	NP_001121640.1:p.(Arg534Cys)	NC_000023.10:g.110459733C>T	(Likely) benign	2 labs	94b25e648e
3:15686776 BTD T>C	3	15686776	15686776	T	C	BTD	c.1413T>C	NM_000060.4	NP_000051.1:p.(Cys471=)	NC_000003.11:g.15686776T>C	(Likely) benign	2 labs	94bdfb8dac
5:176637586 NSD1 ATC>A	5	176637586	176637593	ATC	A	NSD1	c.2192_2193del	NM_022455.5	NP_071900.2:p.(Ser731Ter)	NC_000005.9:g.176637592_176637593del	(Likely) pathogenic	2 labs	94bf86fd7b
9:94495394 ROR2 G>A	9	94495394	94495394	G	A	ROR2	c.937+10C>T	NM_004560.3	NP_004551.2:p.?	NC_000009.11:g.94495394G>A	(Likely) benign	3 labs	94ca379fb9
14:21794062 RPGRIP1 C>T	14	21794062	21794062	C	T	RPGRIP1	c.2440C>T	NM_020366.3	NP_065099.3:p.(Arg814Ter)	NC_000014.8:g.21794062C>T	(Likely) pathogenic	2 labs	94d0ea5942
X:100911947 ARMCX2 C>G	X	100911947	100911947	C	G	ARMCX2	c.628G>C	NM_177949.3	NP_808818.1:p.(Gly210Arg)	NC_000023.10:g.100911947C>G	(Likely) benign	2 labs	94d41ce7ad
15:90775443 CIB1 G>A	15	90775443	90775443	G	A	CIB1	c.315+8C>T	NM_001277764.1	NP_001264693.1:p.?	NC_000015.9:g.90775443G>A	(Likely) benign	2 labs	94d43fc9e9
17:41215362 BRCA1 TTTTC>T	17	41215362	41215373	TTTTC	T	BRCA1	c.5177_5180del	NM_007294.4	NP_009225.1:p.(Arg1726LysfsTer3)	NC_000017.10:g.41215370_41215373del	(Likely) pathogenic	3 labs	94d736b868
20:30418828 MYLK2 C>T	20	30418828	30418828	C	T	MYLK2	c.1308C>T	NM_033118.3	NP_149109.1:p.(Asn436=)	NC_000020.10:g.30418828C>T	(Likely) benign	2 labs	94d6a62920
15:89864369 POLG A>G	15	89864369	89864369	A	G	POLG	c.2721T>C	NM_002693.3	NP_002684.1:p.(Phe907=)	NC_000015.9:g.89864369A>G	(Likely) benign	2 labs	94da9a1adb
13:100955204 PCCA A>G	13	100955204	100955204	A	G	PCCA	c.1236A>G	NM_000282.3	NP_000273.2:p.(Pro412=)	NC_000013.10:g.100955204A>G	(Likely) benign	2 labs	94e3be5277
14:105410699 AHNAK2 C>G	14	105410699	105410699	C	G	AHNAK2	c.11089G>C	NM_138420.3	NP_612429.2:p.(Val3697Leu)	NC_000014.8:g.105410699C>G	(Likely) benign	2 labs	94e5cd76e2
X:73960029 NEXMIF T>G	X	73960029	73960029	T	G	NEXMIF	c.4363A>C	NM_001008537.2	NP_001008537.1:p.(Lys1455Gln)	NC_000023.10:g.73960029T>G	VUS	2 labs	94eaf5c398
16:89346838 ANKRD11 T>C	16	89346838	89346838	T	C	ANKRD11	c.6112A>G	NM_013275.6	NP_037407.4:p.(Lys2038Glu)	NC_000016.9:g.89346838T>C	(Likely) benign	3 labs	fe81ad924d
X:153581582 FLNA G>C	X	153581582	153581582	G	C	FLNA	c.6023-10C>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153581582G>C	(Likely) benign	3 labs	94f45a1fc8
9:98209585 PTCH1 G>A	9	98209585	98209585	G	A	PTCH1	c.3953C>T	NM_000264.5	NP_000255.2:p.(Pro1318Leu)	NC_000009.11:g.98209585G>A	(Likely) benign	2 labs	fe842b7b28
12:15654574 PTPRO A>G	12	15654574	15654574	A	G	PTPRO	c.682A>G	NM_030667.2	NP_109592.1:p.(Ile228Val)	NC_000012.11:g.15654574A>G	(Likely) benign	2 labs	94faa364e4
8:48805837 PRKDC C>T	8	48805837	48805837	C	T	PRKDC	c.3709G>A	NM_006904.6	NP_008835.5:p.(Ala1237Thr)	NC_000008.10:g.48805837C>T	(Likely) benign	2 labs	94fde9840b
19:36223242 KMT2B C>T	19	36223242	36223242	C	T	KMT2B	c.5792C>T	NM_014727.3	NP_055542.1:p.(Pro1931Leu)	NC_000019.9:g.36223242C>T	(Likely) benign	2 labs	950a148d68
19:11210912 LDLR C>T	19	11210912	11210912	C	T	LDLR	c.81C>T	NM_000527.5	NP_000518.1:p.(Cys27=)	NC_000019.9:g.11210912C>T	(Likely) benign	2 labs	fe88c492a9
2:179501444 TTN A>G	2	179501444	179501444	A	G	TTN	c.41010T>C	NM_001267550.2	NP_001254479.2:p.(Asp13670=)	NC_000002.11:g.179501444A>G	(Likely) benign	3 labs	950da6d1d3
18:28672148 DSC2 C>T	18	28672148	28672148	C	T	DSC2	c.270G>A	NM_004949.5	NP_004940.1:p.(Glu90=)	NC_000018.9:g.28672148C>T	(Likely) benign	5 labs	fe89314bd7
15:40939212 KNL1 A>G	15	40939212	40939212	A	G	KNL1	c.6112A>G	NM_170589.4	NP_733468.3:p.(Ile2038Val)	NC_000015.9:g.40939212A>G	(Likely) benign	2 labs	9527777e4d
19:13418977 CACNA1A T>C	19	13418977	13418977	T	C	CACNA1A	c.1873A>G	NM_001127221.2	NP_001120693.1:p.(Ile625Val)	NC_000019.9:g.13418977T>C	VUS	2 labs	952ef19972
1:183532437 NCF2 G>A	1	183532437	183532437	G	A	NCF2	c.1183C>T	NM_000433.4	NP_000424.2:p.(Arg395Trp)	NC_000001.10:g.183532437G>A	(Likely) benign	2 labs	fe89fbb8c8
10:89623752 PTEN G>A	10	89623752	89623752	G	A	PTEN	c.46G>A	NM_001304717.5	NP_001291646.4:p.(Ala16Thr)	NC_000010.10:g.89623752G>A	(Likely) benign	2 labs	95311793f0
X:65253634 VSIG4 G>A	X	65253634	65253634	G	A	VSIG4	c.94C>T	NM_001184830.1	NP_001171759.1:p.(Pro32Ser)	NC_000023.10:g.65253634G>A	(Likely) benign	2 labs	9535e7b43a
1:201869724 LMOD1 A>T	1	201869724	201869724	A	T	LMOD1	c.417T>A	NM_012134.3	NP_036266.2:p.(Asp139Glu)	NC_000001.10:g.201869724A>T	(Likely) benign	2 labs	953b5a2f0c
16:88804983 PIEZO1 T>C	16	88804983	88804983	T	C	PIEZO1	c.627A>G	NM_001142864.4	NP_001136336.2:p.(Ala209=)	NC_000016.9:g.88804983T>C	(Likely) benign	2 labs	954441beb4
21:19704447 TMPRSS15 T>C	21	19704447	19704447	T	C	TMPRSS15	c.1608A>G	NM_002772.2	NP_002763.2:p.(Thr536=)	NC_000021.8:g.19704447T>C	(Likely) benign	2 labs	9557140d58
1:152284649 FLG C>T	1	152284649	152284649	C	T	FLG	c.2713G>A	NM_002016.1	NP_002007.1:p.(Gly905Ser)	NC_000001.10:g.152284649C>T	(Likely) benign	2 labs	9557b3a6ed
X:10092340 WWC3 C>T	X	10092340	10092340	C	T	WWC3	c.1787C>T	NM_015691.3	NP_056506.2:p.(Thr596Met)	NC_000023.10:g.10092340C>T	(Likely) benign	2 labs	955823f3fa
16:3076765 THOC6 G>A	16	3076765	3076765	G	A	THOC6	c.569G>A	NM_024339.5	NP_077315.2:p.(Gly190Glu)	NC_000016.9:g.3076765G>A	(Likely) pathogenic	3 labs	955f8df38a
11:47365183 MYBPC3 C>T	11	47365183	47365183	C	T	MYBPC3	c.1091-8G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365183C>T	(Likely) benign	3 labs	955da556dd
2:228157954 COL4A3 G>A	2	228157954	228157954	G	A	COL4A3	c.3258G>A	NM_000091.4	NP_000082.2:p.(Gly1086=)	NC_000002.11:g.228157954G>A	(Likely) benign	3 labs	955db7fc65
7:128493052 FLNC G>A	7	128493052	128493052	G	A	FLNC	c.6175G>A	NM_001458.5	NP_001449.3:p.(Val2059Met)	NC_000007.13:g.128493052G>A	(Likely) benign	5 labs	955c9bb2f0
11:47364312 MYBPC3 G>A	11	47364312	47364312	G	A	MYBPC3	c.1458-17C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364312G>A	(Likely) benign	4 labs	9566baec55
1:152285930 FLG G>A	1	152285930	152285930	G	A	FLG	c.1432C>T	NM_002016.2	NP_002007.1:p.(Pro478Ser)	NC_000001.10:g.152285930G>A	(Likely) benign	2 labs	fe8f90a25a
2:166769088 TTC21B G>A	2	166769088	166769088	G	A	TTC21B	c.2258C>T	NM_024753.4	NP_079029.3:p.(Pro753Leu)	NC_000002.11:g.166769088G>A	(Likely) benign	3 labs	957b997673
3:11064091 SLC6A1 G>A	3	11064091	11064091	G	A	SLC6A1	c.651G>A	NM_003042.3	NP_003033.3:p.(Thr217=)	NC_000003.11:g.11064091G>A	(Likely) benign	2 labs	957d8c8b33
2:238280504 COL6A3 C>T	2	238280504	238280504	C	T	COL6A3	c.4156G>A	NM_004369.3	NP_004360.2:p.(Glu1386Lys)	NC_000002.11:g.238280504C>T	(Likely) benign	3 labs	95850c3664
6:139694962 CITED2 CTGG>C	6	139694962	139694970	CTGG	C	CITED2	c.117_119del	NM_006079.5	NP_006070.2:p.(His39del)	NC_000006.11:g.139694968_139694970del	(Likely) benign	5 labs	958ec717f3
6:31931747 SKIC2 G>A	6	31931747	31931747	G	A	SKIC2	c.1705G>A	NM_006929.4	NP_008860.4:p.(Val569Met)	NC_000006.11:g.31931747G>A	(Likely) benign	2 labs	9592757712
1:103453270 COL11A1 T>A	1	103453270	103453270	T	A	COL11A1	c.2457A>T	NM_080629.2	NP_542196.2:p.(Arg819Ser)	NC_000001.10:g.103453270T>A	VUS	3 labs	95954fa117
19:38991258 RYR1 G>A	19	38991258	38991258	G	A	RYR1	c.7336G>A	NM_000540.2	NP_000531.2:p.(Gly2446Ser)	NC_000019.9:g.38991258G>A	VUS	2 labs	959c1ced97
10:50740626 ERCC6 C>T	10	50740626	50740626	C	T	ERCC6	c.385G>A	NM_000124.2	NP_000115.1:p.(Val129Met)	NC_000010.10:g.50740626C>T	(Likely) benign	2 labs	959c85bc19
2:21227331 APOB G>A	2	21227331	21227331	G	A	APOB	c.11904-7C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227331G>A	(Likely) benign	2 labs	fe9a2f77a0
19:13002791 GCDH G>A	19	13002791	13002791	G	A	GCDH	c.271+3G>A	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13002791G>A	(Likely) benign	2 labs	959e2b9691
11:2416717 CD81 C>T	11	2416717	2416717	C	T	CD81	c.426C>T	NM_004356.3	NP_004347.1:p.(Asn142=)	NC_000011.9:g.2416717C>T	(Likely) benign	2 labs	95a8d2cebd
7:74193718 NCF1 C>T	7	74193718	74193718	C	T	NCF1	c.345C>T	NM_000265.5	NP_000256.4:p.(Leu115=)	NC_000007.13:g.74193718C>T	(Likely) benign	3 labs	95b17ba702
7:117251609 CFTR A>G	7	117251609	117251609	A	G	CFTR	c.3140-26A>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117251609A>G	(Likely) pathogenic	3 labs	fea4781fae
20:57428998 GNAS T>G	20	57428998	57428998	T	G	GNAS	c.491T>G	NM_001077490.2	NP_001070958.1:p.(Leu164Trp)	NC_000020.10:g.57428998T>G	VUS	2 labs	95b83a2509
12:48389643 COL2A1 A>C	12	48389643	48389643	A	C	COL2A1	c.654+15T>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389643A>C	(Likely) benign	4 labs	fea58279b3
15:49054772 CEP152 C>A	15	49054772	49054772	C	A	CEP152	c.2378G>T	NM_001194998.1	NP_001181927.1:p.(Ser793Ile)	NC_000015.9:g.49054772C>A	(Likely) benign	2 labs	95ba380555
22:25023564 GGT1 G>A	22	25023564	25023564	G	A	GGT1	c.1186G>A	NM_001288833.2	NP_001275762.1:p.(Ala396Thr)	NC_000022.10:g.25023564G>A	VUS	2 labs	95bc1f832e
19:1467857 APC2 G>A	19	1467857	1467857	G	A	APC2	c.4557G>A	NM_005883.2	NP_005874.1:p.(Pro1519=)	NC_000019.9:g.1467857G>A	(Likely) benign	2 labs	95c3f46472
19:7527195 ARHGEF18 A>G	19	7527195	7527195	A	G	ARHGEF18	c.2610A>G	NM_001367823.1	NP_001354752.1:p.(Leu870=)	NC_000019.9:g.7527195A>G	(Likely) benign	2 labs	95c634b173
9:14792865 FREM1 A>C	9	14792865	14792865	A	C	FREM1	c.3857T>G	NM_144966.7	NP_659403.4:p.(Met1286Arg)	NC_000009.11:g.14792865A>C	VUS	3 labs	95c90fd1f3
17:17127470 FLCN C>T	17	17127470	17127470	C	T	FLCN	c.397-13G>A	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17127470C>T	(Likely) benign	3 labs	95c8b43739
16:904643 LMF1 C>G	16	904643	904643	C	G	LMF1	c.1593G>C	NM_022773.4	NP_073610.2:p.(Glu531Asp)	NC_000016.9:g.904643C>G	(Likely) benign	3 labs	95c83f6c69
10:90530701 LIPN G>A	10	90530701	90530701	G	A	LIPN	c.772G>A	NM_001102469.1	NP_001095939.1:p.(Glu258Lys)	NC_000010.10:g.90530701G>A	(Likely) benign	2 labs	95cf53653a
13:31821177 B3GLCT C>T	13	31821177	31821177	C	T	B3GLCT	c.288C>T	NM_194318.3	NP_919299.3:p.(Leu96=)	NC_000013.10:g.31821177C>T	(Likely) benign	2 labs	95d5c0c7da
1:22985931 C1QB A>C	1	22985931	22985931	A	C	C1QB	c.-17-2A>C	NM_000491.3	NP_000482.3:p.?	NC_000001.10:g.22985931A>C	(Likely) pathogenic	2 labs	95dab34756
X:54278075 WNK3 C>G	X	54278075	54278075	C	G	WNK3	c.2413G>C	NM_020922.5	NP_065973.2:p.(Glu805Gln)	NC_000023.10:g.54278075C>G	(Likely) benign	2 labs	95dab9086c
10:102749009 TWNK G>A	10	102749009	102749009	G	A	TWNK	c.1042G>A	NM_001163812.1	NP_001157284.1:p.(Gly348Arg)	NC_000010.10:g.102749009G>A	(Likely) benign	2 labs	95db604cac
5:138456815 SIL1 T>C	5	138456815	138456815	T	C	SIL1	c.153A>G	NM_001037633.2	NP_001032722.1:p.(Thr51=)	NC_000005.9:g.138456815T>C	(Likely) benign	3 labs	95e116b570
9:101911572 TGFBR1 A>G	9	101911572	101911572	A	G	TGFBR1	c.1497A>G	NM_004612.4	NP_004603.1:p.(Glu499=)	NC_000009.11:g.101911572A>G	(Likely) benign	2 labs	95f02573bd
5:41199959 C6 G>T	5	41199959	41199959	G	T	C6	c.356C>A	NM_001115131.4	NP_001108603.2:p.(Ala119Glu)	NC_000005.9:g.41199959G>T	(Likely) benign	2 labs	feb150e973
5:77298804 AP3B1 C>T	5	77298804	77298804	C	T	AP3B1	c.3060G>A	NM_001271769.1	NP_001258698.1:p.(Gln1020=)	NC_000005.9:g.77298804C>T	(Likely) benign	2 labs	9607344ee2
2:179425397 TTN C>T	2	179425397	179425397	C	T	TTN	c.85462G>A	NM_001267550.2	NP_001254479.2:p.(Val28488Ile)	NC_000002.11:g.179425397C>T	VUS	2 labs	feb762cb17
5:89943571 ADGRV1 G>T	5	89943571	89943571	G	T	ADGRV1	c.3279G>T	NM_032119.4	NP_115495.3:p.(Leu1093Phe)	NC_000005.9:g.89943571G>T	(Likely) benign	3 labs	feb7d905a1
13:37427743 SMAD9 T>C	13	37427743	37427743	T	C	SMAD9	c.1073A>G	NM_001127217.3	NP_001120689.1:p.(Gln358Arg)	NC_000013.10:g.37427743T>C	VUS	2 labs	9629696c01
8:61732542 CHD7 CT>C	8	61732542	61732552	CT	C	CHD7	c.2614-14del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61732552del	(Likely) benign	2 labs	96281ad66a
16:79245582 WWOX C>T	16	79245582	79245582	C	T	WWOX	c.1134C>T	NM_016373.4	NP_057457.1:p.(Asn378=)	NC_000016.9:g.79245582C>T	(Likely) benign	3 labs	9632b0c2cc
12:6438736 TNFRSF1A G>A	12	6438736	6438736	G	A	TNFRSF1A	c.1110C>T	NM_001065.3	NP_001056.1:p.(Arg370=)	NC_000012.11:g.6438736G>A	(Likely) benign	2 labs	9638965208
16:56533804 BBS2 T>G	16	56533804	56533804	T	G	BBS2	c.1413A>C	NM_031885.5	NP_114091.4:p.(Val471=)	NC_000016.9:g.56533804T>G	(Likely) benign	2 labs	96378b45f7
8:144999541 PLEC G>A	8	144999541	144999541	G	A	PLEC	c.4967C>T	NM_201380.3	NP_958782.1:p.(Ser1656Leu)	NC_000008.10:g.144999541G>A	(Likely) benign	2 labs	96469cea01
3:14183311 TMEM43 C>T	3	14183311	14183311	C	T	TMEM43	c.*16C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14183311C>T	(Likely) benign	3 labs	96450988f5
7:19156577 TWIST1 G>T	7	19156577	19156577	G	T	TWIST1	c.368C>A	NM_000474.3	NP_000465.1:p.(Ser123Ter)	NC_000007.13:g.19156577G>T	(Likely) pathogenic	2 labs	9648fd8bca
6:152755014 SYNE1 G>A	6	152755014	152755014	G	A	SYNE1	c.4377C>T	NM_182961.3	NP_892006.3:p.(Ser1459=)	NC_000006.11:g.152755014G>A	(Likely) benign	2 labs	96548f155c
2:179422075 TTN C>T	2	179422075	179422075	C	T	TTN	c.87914G>A	NM_001267550.1	NP_001254479.1:p.(Gly29305Glu)	NC_000002.11:g.179422075C>T	VUS	2 labs	96576395d4
1:2160430 SKI C>T	1	2160430	2160430	C	T	SKI	c.225C>T	NM_003036.3	NP_003027.1:p.(His75=)	NC_000001.10:g.2160430C>T	(Likely) benign	2 labs	965782268b
17:29533378 NF1 C>T	17	29533378	29533378	C	T	NF1	c.1381C>T	NM_000267.3	NP_000258.1:p.(Arg461Ter)	NC_000017.10:g.29533378C>T	(Likely) pathogenic	2 labs	965db4b469
15:44898257 SPG11 A>G	15	44898257	44898257	A	G	SPG11	c.3486T>C	NM_025137.4	NP_079413.3:p.(Phe1162=)	NC_000015.9:g.44898257A>G	(Likely) benign	3 labs	96571c96c2
13:77566158 CLN5 A>G	13	77566158	77566158	A	G	CLN5				NC_000013.10:g.77566158A>G	(Likely) benign	2 labs	965e670c81
7:99808701 STAG3 C>G	7	99808701	99808701	C	G	STAG3	c.3306C>G	NM_001282717.1	NP_001269646.1:p.(Ile1102Met)	NC_000007.13:g.99808701C>G	(Likely) benign	2 labs	96641623d4
X:129203656 ELF4 G>C	X	129203656	129203656	G	C	ELF4	c.810-4C>G	NM_001421.4	NP_001412.1:p.?	NC_000023.10:g.129203656G>C	(Likely) benign	4 labs	966778943e
18:28663027 DSC2 C>T	18	28663027	28663027	C	T	DSC2	c.943-1G>A	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28663027C>T	(Likely) pathogenic	4 labs	966cf1a7ab
2:179431314 TTN G>A	2	179431314	179431314	G	A	TTN	c.79545C>T	NM_001267550.2	NP_001254479.2:p.(Gly26515=)	NC_000002.11:g.179431314G>A	(Likely) benign	3 labs	966fdad021
4:126371328 FAT4 C>A	4	126371328	126371328	C	A	FAT4	c.9163C>A	NM_001291303.1	NP_001278232.1:p.(Gln3055Lys)	NC_000004.11:g.126371328C>A	(Likely) benign	2 labs	9670700b08
X:40498263 CXorf38 C>G	X	40498263	40498263	C	G	CXorf38	c.469G>C	NM_144970.2	NP_659407.1:p.(Glu157Gln)	NC_000023.10:g.40498263C>G	VUS	2 labs	967ed280fe
2:109398682 RANBP2 C>T	2	109398682	109398682	C	T	RANBP2	c.8859C>T	NM_006267.4	NP_006258.3:p.(Arg2953=)	NC_000002.11:g.109398682C>T	(Likely) benign	2 labs	9684caa870
X:19377712 PDHA1 G>A	X	19377712	19377712	G	A	PDHA1	c.1228G>A	NM_001173454.1	NP_001166925.1:p.(Asp410Asn)	NC_000023.10:g.19377712G>A	(Likely) benign	2 labs	969af8707d
2:179435600 TTN C>T	2	179435600	179435600	C	T	TTN	c.70336G>A	NM_001256850.1	NP_001243779.1:p.(Ala23446Thr)	NC_000002.11:g.179435600C>T	VUS	4 labs	96ac5f433b
3:123411589 MYLK G>A	3	123411589	123411589	G	A	MYLK	c.3558C>T	NM_053025.4	NP_444253.3:p.(Thr1186=)	NC_000003.11:g.123411589G>A	(Likely) benign	3 labs	fec9962906
14:23858271 MYH6 AG>GC	14	23858271	23858272	AG	GC	MYH6	c.3979-8_3979-7delinsGC	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858271_23858272delinsGC	(Likely) benign	2 labs	96a4cd01e3
17:42429544 GRN C>T	17	42429544	42429544	C	T	GRN	c.1341C>T	NM_002087.2	NP_002078.1:p.(His447=)	NC_000017.10:g.42429544C>T	(Likely) benign	2 labs	96a832b9e1
3:48624040 COL7A1 C>T	3	48624040	48624040	C	T	COL7A1	c.3359G>A	NM_000094.4	NP_000085.1:p.(Arg1120Lys)	NC_000003.11:g.48624040C>T	(Likely) benign	3 labs	96a1a84fa0
17:78039310 CCDC40 C>A	17	78039310	78039310	C	A	CCDC40	c.1467C>A	NM_017950.3	NP_060420.2:p.(Ser489Arg)	NC_000017.10:g.78039310C>A	(Likely) benign	2 labs	96b6e38185
19:54301594 NLRP12 G>T	19	54301594	54301594	G	T	NLRP12	c.2833C>A	NM_001277126.1	NP_001264055.1:p.(Arg945=)	NC_000019.9:g.54301594G>T	(Likely) benign	3 labs	96b954c0e5
8:100883745 VPS13B A>G	8	100883745	100883745	A	G	VPS13B	c.11640A>G	NM_017890.4	NP_060360.3:p.(Ser3880=)	NC_000008.10:g.100883745A>G	(Likely) benign	2 labs	96bd9a7458
21:34926388 SON A>G	21	34926388	34926388	A	G	SON	c.4851A>G	NM_138927.2	NP_620305.2:p.(Ala1617=)	NC_000021.8:g.34926388A>G	(Likely) benign	2 labs	96c4ff4784
5:13944512 DNAH5 A>C	5	13944512	13944512	A	C	DNAH5	c.36T>G	NM_001369.3	NP_001360.1:p.(His12Gln)	NC_000005.9:g.13944512A>C	(Likely) benign	2 labs	96ce216ea1
15:43075755 TTBK2 G>A	15	43075755	43075755	G	A	TTBK2	c.1059C>T	NM_173500.3	NP_775771.3:p.(Ser353=)	NC_000015.9:g.43075755G>A	(Likely) benign	2 labs	96c82f1f52
12:56091332 ITGA7 TG>T	12	56091332	56091335	TG	T	ITGA7	c.1422-3del	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56091335del	(Likely) benign	2 labs	96c86b3d13
21:47850405 PCNT C>T	21	47850405	47850405	C	T	PCNT	c.7914-16C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47850405C>T	(Likely) benign	2 labs	96dde3506f
11:71155029 DHCR7 G>A	11	71155029	71155029	G	A	DHCR7	c.321+10C>T	NM_001360.2	NP_001351.2:p.?	NC_000011.9:g.71155029G>A	(Likely) benign	3 labs	96e276ecd9
10:12133532 DHTKD1 C>G	10	12133532	12133532	C	G	DHTKD1	c.1008C>G	NM_018706.7	NP_061176.4:p.(Phe336Leu)	NC_000010.10:g.12133532C>G	VUS	2 labs	fee3930657
17:29483145 NF1 G>T	17	29483145	29483145	G	T	NF1	c.204+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29483145G>T	(Likely) pathogenic	2 labs	96efa5c588
7:117180281 CFTR C>T	7	117180281	117180281	C	T	CFTR	c.997C>T	NM_000492.3	NP_000483.3:p.(Leu333Phe)	NC_000007.13:g.117180281C>T	VUS	2 labs	96f7e76852
2:179426634 TTN A>G	2	179426634	179426634	A	G	TTN	c.84225T>C	NM_001267550.2	NP_001254479.2:p.(Ser28075=)	NC_000002.11:g.179426634A>G	(Likely) benign	3 labs	9707cda15e
11:118895670 SLC37A4 G>A	11	118895670	118895670	G	A	SLC37A4	c.1306C>T	NM_001164278.2	NP_001157750.1:p.(Leu436=)	NC_000011.9:g.118895670G>A	(Likely) benign	2 labs	970b071608
7:148524325 EZH2 G>A	7	148524325	148524325	G	A	EZH2	c.659C>T	NM_004456.5	NP_004447.2:p.(Ser220Phe)	NC_000007.13:g.148524325G>A	VUS	2 labs	fef40587b0
2:166904178 SCN1A G>A	2	166904178	166904178	G	A	SCN1A	c.1129C>T	NM_001202435.3	NP_001189364.1:p.(Arg377Ter)	NC_000002.11:g.166904178G>A	(Likely) pathogenic	2 labs	fef43dd8b8
3:53736832 CACNA1D G>A	3	53736832	53736832	G	A	CACNA1D	c.1385G>A	NM_000720.3	NP_000711.1:p.(Arg462Gln)	NC_000003.11:g.53736832G>A	VUS	2 labs	9710bb4ef2
22:51018204 CHKB T>C	22	51018204	51018204	T	C	CHKB	c.983A>G	NM_005198.4	NP_005189.2:p.(Gln328Arg)	NC_000022.10:g.51018204T>C	(Likely) benign	2 labs	9713cb359f
17:54925389 DGKE G>A	17	54925389	54925389	G	A	DGKE	c.851G>A	NM_003647.2	NP_003638.1:p.(Gly284Glu)	NC_000017.10:g.54925389G>A	VUS	2 labs	9714edc698
22:38528925 PLA2G6 G>A	22	38528925	38528925	G	A	PLA2G6	c.990C>T	NM_003560.4	NP_003551.2:p.(Phe330=)	NC_000022.10:g.38528925G>A	(Likely) benign	2 labs	970cb04259
13:32915135 BRCA2 TACTC>T	13	32915135	32915139	TACTC	T	BRCA2	c.6644_6647del	NM_000059.4	NP_000050.3:p.(Tyr2215SerfsTer13)	NC_000013.10:g.32915136_32915139del	(Likely) pathogenic	3 labs	971760a59e
5:149772954 TCOF1 T>A	5	149772954	149772954	T	A	TCOF1	c.3620T>A	NM_001135243.1	NP_001128715.1:p.(Met1207Lys)	NC_000005.9:g.149772954T>A	(Likely) benign	2 labs	971cc8f2e4
2:179443540 TTN A>G	2	179443540	179443540	A	G	TTN	c.68217T>C	NM_001267550.2	NP_001254479.2:p.(His22739=)	NC_000002.11:g.179443540A>G	(Likely) benign	2 labs	97168c6832
19:11240280 LDLR C>T	19	11240280	11240280	C	T	LDLR	c.2481C>T	NM_000527.5	NP_000518.1:p.(Val827=)	NC_000019.9:g.11240280C>T	(Likely) benign	2 labs	fef4a62e9c
10:123279677 FGFR2 G>C	10	123279677	123279677	G	C	FGFR2	c.755C>G	NM_000141.4	NP_000132.3:p.(Ser252Trp)	NC_000010.10:g.123279677G>C	(Likely) pathogenic	3 labs	973194844e
2:21228632 APOB C>T	2	21228632	21228632	C	T	APOB	c.11108G>A	NM_000384.3	NP_000375.3:p.(Arg3703His)	NC_000002.11:g.21228632C>T	VUS	2 labs	972bb54850
3:14175262 TMEM43 T>C	3	14175262	14175262	T	C	TMEM43	c.536T>C	NM_024334.3	NP_077310.1:p.(Met179Thr)	NC_000003.11:g.14175262T>C	(Likely) benign	5 labs	fef5f9a736
3:180365956 CCDC39 G>A	3	180365956	180365956	G	A	CCDC39	c.1359C>T	NM_181426.2	NP_852091.1:p.(Ser453=)	NC_000003.11:g.180365956G>A	(Likely) benign	2 labs	97458d2dc5
2:47641528 MSH2 G>A	2	47641528	47641528	G	A	MSH2	c.913G>A	NM_000251.3	NP_000242.1:p.(Ala305Thr)	NC_000002.11:g.47641528G>A	VUS	2 labs	feff17bdc9
3:38592679 SCN5A G>A	3	38592679	38592679	G	A	SCN5A	c.5184C>T	NM_198056.3	NP_932173.1:p.(Cys1728=)	NC_000003.11:g.38592679G>A	(Likely) benign	2 labs	9744c51f35
6:146480740 GRM1 T>TTCTC	6	146480740	146480778	T	TTCTC	GRM1	c.950+42_950+45dup	NM_001278065.1	NP_001264994.1:p.?	NC_000006.11:g.146480775_146480778dup	(Likely) benign	2 labs	97509d9deb
10:68979636 CTNNA3 G>A	10	68979636	68979636	G	A	CTNNA3	c.580-8C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68979636G>A	(Likely) benign	4 labs	974a4a1061
3:133191280 BFSP2 C>T	3	133191280	133191280	C	T	BFSP2	c.1115C>T	NM_003571.4	NP_003562.1:p.(Ala372Val)	NC_000003.11:g.133191280C>T	VUS	2 labs	975532115a
5:37125346 CPLANE1 T>C	5	37125346	37125346	T	C	CPLANE1	c.8796A>G	NM_023073.3	NP_075561.3:p.(Pro2932=)	NC_000005.9:g.37125346T>C	(Likely) benign	2 labs	9760475787
14:105178005 INF2 C>T	14	105178005	105178005	C	T	INF2	c.2458C>T	NM_022489.4	NP_071934.3:p.(Arg820Trp)	NC_000014.8:g.105178005C>T	(Likely) benign	2 labs	ff09001ad8
17:78063649 CCDC40 T>G	17	78063649	78063649	T	G	CCDC40	c.2798T>G	NM_017950.3	NP_060420.2:p.(Ile933Ser)	NC_000017.10:g.78063649T>G	VUS	2 labs	9763b42839
7:26400590 SNX10 T>C	7	26400590	26400590	T	C	SNX10	c.11T>C	NM_001199837.1	NP_001186766.1:p.(Leu4Ser)	NC_000007.13:g.26400590T>C	(Likely) benign	2 labs	9770005d69
21:45716336 PFKL C>T	21	45716336	45716336	C	T	PFKL				NC_000021.8:g.45716336C>T	(Likely) benign	2 labs	978380fae9
4:39245900 WDR19 C>T	4	39245900	39245900	C	T	WDR19	c.2454C>T	NM_025132.4	NP_079408.3:p.(Ala818=)	NC_000004.11:g.39245900C>T	(Likely) benign	4 labs	978cf2d31c
15:89400137 ACAN A>G	15	89400137	89400137	A	G	ACAN	c.4321A>G	NM_013227.3	NP_037359.3:p.(Thr1441Ala)	NC_000015.9:g.89400137A>G	(Likely) benign	2 labs	978bc593ea
1:47882916 FOXE3 G>A	1	47882916	47882916	G	A	FOXE3	c.929G>A	NM_012186.2	NP_036318.1:p.(Gly310Asp)	NC_000001.10:g.47882916G>A	(Likely) benign	3 labs	978c534522
11:94197294 MRE11 G>T	11	94197294	94197294	G	T	MRE11	c.1210C>A	NM_005590.3	NP_005581.2:p.(Gln404Lys)	NC_000011.9:g.94197294G>T	(Likely) benign	2 labs	9797a360e6
18:33750158 ELP2 C>T	18	33750158	33750158	C	T	ELP2	c.2209C>T	NM_018255.4	NP_060725.1:p.(Arg737Ter)	NC_000018.9:g.33750158C>T	VUS	2 labs	979d438002
9:135945971 CEL C>T	9	135945971	135945971	C	T	CEL	c.1419C>T	NM_001807.4	NP_001798.2:p.(Pro473=)	NC_000009.11:g.135945971C>T	(Likely) benign	2 labs	97a0787821
10:112581282 RBM20 G>A	10	112581282	112581282	G	A	RBM20	c.2905G>A	NM_001134363.1	NP_001127835.1:p.(Val969Ile)	NC_000010.10:g.112581282G>A	(Likely) benign	2 labs	97a6172ed0
1:197074085 ASPM T>G	1	197074085	197074085	T	G	ASPM	c.4296A>C	NM_018136.4	NP_060606.3:p.(Arg1432Ser)	NC_000001.10:g.197074085T>G	VUS	2 labs	97a7c87b38
16:2107186 TSC2 G>A	16	2107186	2107186	G	A	TSC2	c.848+7G>A	NM_001114382.2	NP_001107854.1:p.?	NC_000016.9:g.2107186G>A	(Likely) benign	2 labs	97b568ad7a
1:11082411 TARDBP G>A	1	11082411	11082411	G	A	TARDBP	c.945G>A	NM_007375.3	NP_031401.1:p.(Ala315=)	NC_000001.10:g.11082411G>A	(Likely) benign	2 labs	97c0acdc8a
1:237872887 RYR2 T>C	1	237872887	237872887	T	C	RYR2	c.10230+20T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237872887T>C	(Likely) benign	4 labs	97d2b04b8e
2:215645570 BARD1 G>A	2	215645570	215645570	G	A	BARD1	c.971C>T	NM_001282543.1	NP_001269472.1:p.(Thr324Ile)	NC_000002.11:g.215645570G>A	(Likely) benign	2 labs	97ce11bb50
16:53672338 RPGRIP1L A>G	16	53672338	53672338	A	G	RPGRIP1L	c.2959-15T>C	NM_015272.4	NP_056087.2:p.?	NC_000016.9:g.53672338A>G	(Likely) benign	2 labs	97d2cabbd5
2:61244926 PEX13 C>T	2	61244926	61244926	C	T	PEX13	c.32C>T	NM_002618.3	NP_002609.1:p.(Pro11Leu)	NC_000002.11:g.61244926C>T	VUS	2 labs	97ddd16186
11:36597425 RAG1 C>T	11	36597425	36597425	C	T	RAG1	c.2571C>T	NM_000448.2	NP_000439.1:p.(Ala857=)	NC_000011.9:g.36597425C>T	(Likely) benign	2 labs	97e07d12c6
6:144769824 UTRN C>G	6	144769824	144769824	C	G	UTRN	c.1991C>G	NM_007124.2	NP_009055.2:p.(Thr664Arg)	NC_000006.11:g.144769824C>G	(Likely) benign	2 labs	97e4815ae2
11:108172399 ATM T>TA	11	108172399	108172400	T	TA	ATM	c.5203dup	NM_000051.4	NP_000042.3:p.(Thr1735AsnfsTer14)	NC_000011.9:g.108172400dup	(Likely) pathogenic	6 labs	97ec60e493
11:17544956 USH1C C>G	11	17544956	17544956	C	G	USH1C	c.819+10G>C	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17544956C>G	(Likely) benign	2 labs	97ec27cb6f
21:44484111 CBS G>A	21	44484111	44484111	G	A	CBS	c.737-10C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44484111G>A	(Likely) benign	2 labs	97e795dc3b
4:187120211 CYP4V2 C>A	4	187120211	187120211	C	A	CYP4V2	c.775C>A	NM_207352.4	NP_997235.3:p.(Gln259Lys)	NC_000004.11:g.187120211C>A	(Likely) benign	2 labs	ff2efeaee7
12:116399155 MED13L C>T	12	116399155	116399155	C	T	MED13L	c.6549G>A	NM_015335.4	NP_056150.1:p.(Pro2183=)	NC_000012.11:g.116399155C>T	(Likely) benign	2 labs	980396b190
5:118824930 HSD17B4 C>G	5	118824930	118824930	C	G	HSD17B4	c.741C>G	NM_001199291.3	NP_001186220.1:p.(Val247=)	NC_000005.9:g.118824930C>G	(Likely) benign	2 labs	9803bdfb1f
12:4409165 CCND2 T>G	12	4409165	4409165	T	G	CCND2	c.860T>G	NM_001759.3	NP_001750.1:p.(Ile287Ser)	NC_000012.11:g.4409165T>G	VUS	2 labs	980c053be8
1:66081746 LEPR A>C	1	66081746	66081746	A	C	LEPR	c.2051A>C	NM_002303.6	NP_002294.2:p.(His684Pro)	NC_000001.10:g.66081746A>C	(Likely) pathogenic	3 labs	ff2f8af704
10:112541047 RBM20 G>T	10	112541047	112541047	G	T	RBM20	c.680G>T	NM_001134363.3	NP_001127835.2:p.(Gly227Val)	NC_000010.10:g.112541047G>T	(Likely) benign	4 labs	ff360fff14
10:104389932 SUFU T>G	10	104389932	104389932	T	G	SUFU	c.*20T>G	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104389932T>G	(Likely) benign	2 labs	9814bdc94c
7:117230498 CFTR G>T	7	117230498	117230498	G	T	CFTR	c.1766+5G>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117230498G>T	(Likely) pathogenic	3 labs	981a4388d2
5:13868103 DNAH5 TA>T	5	13868103	13868112	TA	T	DNAH5	c.3835-3del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13868112del	(Likely) benign	2 labs	981e8411da
3:8787530 CAV3 G>A	3	8787530	8787530	G	A	CAV3	c.433G>A	NM_033337.2	NP_203123.1:p.(Val145Met)	NC_000003.11:g.8787530G>A	VUS	3 labs	981dc48881
3:126220751 UROC1 C>T	3	126220751	126220751	C	T	UROC1	c.943G>A	NM_001165974.1	NP_001159446.1:p.(Gly315Ser)	NC_000003.11:g.126220751C>T	(Likely) benign	2 labs	981fa8875e
19:36592551 WDR62 G>A	19	36592551	36592551	G	A	WDR62	c.2972-15G>A	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36592551G>A	(Likely) benign	2 labs	9821ef65fc
19:17950375 JAK3 C>T	19	17950375	17950375	C	T	JAK3	c.1352G>A	NM_000215.4	NP_000206.2:p.(Arg451Gln)	NC_000019.9:g.17950375C>T	(Likely) benign	2 labs	982aee1716
10:12143105 DHTKD1 C>G	10	12143105	12143105	C	G	DHTKD1	c.1821C>G	NM_018706.7	NP_061176.4:p.(Ile607Met)	NC_000010.10:g.12143105C>G	(Likely) benign	3 labs	ff3f01257c
X:25031310 ARX C>A	X	25031310	25031310	C	A	ARX	c.802G>T	NM_139058.2	NP_620689.1:p.(Val268Leu)	NC_000023.10:g.25031310C>A	(Likely) benign	2 labs	982fbad51a
12:32955378 PKP2 A>G	12	32955378	32955378	A	G	PKP2	c.2258T>C	NM_004572.3	NP_004563.2:p.(Leu753Pro)	NC_000012.11:g.32955378A>G	VUS	2 labs	9831428f35
13:101167831 PCCA G>GT	13	101167831	101167832	G	GT	PCCA	c.2040+11dup	NM_000282.3	NP_000273.2:p.?	NC_000013.10:g.101167832dup	(Likely) benign	2 labs	983bf85502
9:2191259 SMARCA2 G>C	9	2191259	2191259	G	C	SMARCA2	c.4595-7G>C	NM_003070.4	NP_003061.3:p.?	NC_000009.11:g.2191259G>C	(Likely) benign	2 labs	9844419c8f
2:179586798 TTN C>T	2	179586798	179586798	C	T	TTN	c.22592G>A	NM_001267550.2	NP_001254479.2:p.(Ser7531Asn)	NC_000002.11:g.179586798C>T	VUS	2 labs	984cfdf4a9
2:227959014 COL4A4 T>C	2	227959014	227959014	T	C	COL4A4	c.1205-9A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227959014T>C	(Likely) benign	3 labs	984d1bb394
12:48272895 VDR A>G	12	48272895	48272895	A	G	VDR	c.152T>C	NM_001017536.2	NP_001017536.1:p.(Met51Thr)	NC_000012.11:g.48272895A>G	(Likely) benign	5 labs	ff432a987a
18:43519602 EPG5 A>G	18	43519602	43519602	A	G	EPG5	c.2063T>C	NM_020964.3	NP_066015.2:p.(Phe688Ser)	NC_000018.9:g.43519602A>G	(Likely) benign	2 labs	9858ca65e6
11:6662249 DCHS1 G>C	11	6662249	6662249	G	C	DCHS1	c.596C>G	NM_003737.4	NP_003728.1:p.(Pro199Arg)	NC_000011.9:g.6662249G>C	(Likely) benign	3 labs	985307e4e0
10:89692837 PTEN T>C	10	89692837	89692837	T	C	PTEN	c.321T>C	NM_000314.8	NP_000305.3:p.(Asp107=)	NC_000010.10:g.89692837T>C	(Likely) benign	2 labs	ff461f0936
10:73490301 CDH23 C>T	10	73490301	73490301	C	T	CDH23	c.3655C>T	NM_022124.5	NP_071407.4:p.(Arg1219Ter)	NC_000010.10:g.73490301C>T	(Likely) pathogenic	2 labs	9862071408
5:169141416 DOCK2 G>A	5	169141416	169141416	G	A	DOCK2	c.1896G>A	NM_004946.3	NP_004937.1:p.(Glu632=)	NC_000005.9:g.169141416G>A	(Likely) benign	2 labs	9862284743
6:16327894 ATXN1 C>CTGA	6	16327894	16327897	C	CTGA	ATXN1	c.647_648insTCA	NM_000332.3	NP_000323.2:p.(Gln215_Gln216insHis)	NC_000006.11:g.16327896_16327897insATG	(Likely) benign	2 labs	9862afbf39
16:89811369 FANCA G>A	16	89811369	89811369	G	A	FANCA	c.3624C>T	NM_000135.4	NP_000126.2:p.(Ser1208=)	NC_000016.9:g.89811369G>A	(Likely) pathogenic	4 labs	ff4a5102b0
2:163123732 IFIH1 CA>C	2	163123732	163123733	CA	C	IFIH1	c.3055del	NM_022168.4	NP_071451.2:p.(Cys1019ValfsTer10)	NC_000002.11:g.163123733del	VUS	2 labs	ff4bab461f
1:152277226 FLG C>G	1	152277226	152277226	C	G	FLG	c.10136G>C	NM_002016.1	NP_002007.1:p.(Arg3379Thr)	NC_000001.10:g.152277226C>G	(Likely) benign	2 labs	986a0d7920
15:63349380 TPM1 TC>T	15	63349380	63349382	TC	T	TPM1	c.374+65del	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63349382del	(Likely) benign	2 labs	986fce09cc
6:7580958 DSP A>G	6	7580958	7580958	A	G	DSP	c.4535A>G	NM_004415.4	NP_004406.2:p.(Tyr1512Cys)	NC_000006.11:g.7580958A>G	(Likely) benign	5 labs	9872b6f698
11:679706 DEAF1 C>T	11	679706	679706	C	T	DEAF1	c.1108G>A	NM_021008.3	NP_066288.2:p.(Val370Ile)	NC_000011.9:g.679706C>T	VUS	2 labs	e6d3ea28a8
10:102777967 PDZD7 A>G	10	102777967	102777967	A	G	PDZD7	c.1411T>C	NM_001195263.2	NP_001182192.1:p.(Phe471Leu)	NC_000010.10:g.102777967A>G	(Likely) benign	2 labs	987ad1fd77
17:39976713 FKBP10 C>T	17	39976713	39976713	C	T	FKBP10	c.1256C>T	NM_021939.4	NP_068758.3:p.(Ser419Leu)	NC_000017.10:g.39976713C>T	VUS	3 labs	9885afa2d1
3:129252449 RHO A>C	3	129252449	129252449	A	C	RHO	c.937-2A>C	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129252449A>C	(Likely) pathogenic	2 labs	98811b84d1
9:135779103 TSC1 G>A	9	135779103	135779103	G	A	TSC1	c.2143C>T	NM_000368.4	NP_000359.1:p.(Arg715Trp)	NC_000009.11:g.135779103G>A	VUS	2 labs	988a8fb28b
2:135926242 RAB3GAP1 C>T	2	135926242	135926242	C	T	RAB3GAP1	c.2858C>T	NM_001172435.1	NP_001165906.1:p.(Pro953Leu)	NC_000002.11:g.135926242C>T	VUS	2 labs	989d066725
7:116411990 MET C>T	7	116411990	116411990	C	T	MET	c.3029C>T	NM_001127500.3	NP_001120972.1:p.(Thr1010Ile)	NC_000007.13:g.116411990C>T	(Likely) benign	5 labs	ff5d1d3134
6:152615148 SYNE1 C>T	6	152615148	152615148	C	T	SYNE1	c.17797G>A	NM_182961.3	NP_892006.3:p.(Ala5933Thr)	NC_000006.11:g.152615148C>T	(Likely) benign	2 labs	98a59d4412
11:117859104 IL10RA G>T	11	117859104	117859104	G	T	IL10RA	c.75G>T	NM_001558.3	NP_001549.2:p.(Glu25Asp)	NC_000011.9:g.117859104G>T	(Likely) benign	2 labs	98a639ce30
2:179451957 TTN T>C	2	179451957	179451957	T	C	TTN	c.63981A>G	NM_001267550.1	NP_001254479.1:p.(Val21327=)	NC_000002.11:g.179451957T>C	(Likely) benign	2 labs	98ace065bc
8:90995019 NBN C>T	8	90995019	90995019	C	T	NBN	c.102G>A	NM_002485.5	NP_002476.2:p.(Leu34=)	NC_000008.10:g.90995019C>T	(Likely) benign	3 labs	98aef1a1d7
X:152815089 ATP2B3 A>G	X	152815089	152815089	A	G	ATP2B3	c.1473A>G	NM_021949.3	NP_068768.2:p.(Gly491=)	NC_000023.10:g.152815089A>G	(Likely) benign	2 labs	98b6616f0f
11:118373790 KMT2A T>C	11	118373790	118373790	T	C	KMT2A	c.7183T>C	NM_001197104.1	NP_001184033.1:p.(Ser2395Pro)	NC_000011.9:g.118373790T>C	(Likely) benign	3 labs	98b25e414d
4:10082974 WDR1 T>TCC	4	10082974	10082977	T	TCC	WDR1	c.1284+5_1284+6dup	NM_017491.4	NP_059830.1:p.?	NC_000004.11:g.10082976_10082977dup	(Likely) benign	3 labs	98b30cec7c
7:103179595 RELN A>G	7	103179595	103179595	A	G	RELN	c.7110T>C	NM_005045.4	NP_005036.2:p.(Val2370=)	NC_000007.13:g.103179595A>G	(Likely) benign	2 labs	98b3f4b6a6
2:179568869 TTN C>T	2	179568869	179568869	C	T	TTN	c.30223+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179568869C>T	VUS	2 labs	ff63ef82c8
1:22176916 HSPG2 TGCCCAACACTCGGCACACGTACTC>T	1	22176916	22176944	TGCCCAACACTCGGCACACGTACTC	T	HSPG2	c.7210_7233del	NM_005529.7	NP_005520.4:p.(Glu2404_Gly2411del)	NC_000001.10:g.22176921_22176944del	VUS	2 labs	98b913ecc2
1:216420214 USH2A G>T	1	216420214	216420214	G	T	USH2A	c.2522C>A	NM_206933.4	NP_996816.3:p.(Ser841Tyr)	NC_000001.10:g.216420214G>T	(Likely) benign	3 labs	98c34c7fae
4:2833348 SH3BP2 C>T	4	2833348	2833348	C	T	SH3BP2	c.1292C>T	NM_003023.4	NP_003014.3:p.(Pro431Leu)	NC_000004.11:g.2833348C>T	(Likely) benign	2 labs	98ccfdeaec
5:73091149 ARHGEF28 C>T	5	73091149	73091149	C	T	ARHGEF28	c.964-7C>T	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73091149C>T	(Likely) benign	2 labs	98d0e00e03
19:33333137 SLC7A9 G>A	19	33333137	33333137	G	A	SLC7A9	c.1161C>T	NM_001243036.1	NP_001229965.1:p.(Gly387=)	NC_000019.9:g.33333137G>A	(Likely) benign	2 labs	98d93ccf14
13:20763360 GJB2 TCTC>T	13	20763360	20763366	TCTC	T	GJB2	c.358_360del	NM_004004.6	NP_003995.2:p.(Glu120del)	NC_000013.10:g.20763364_20763366del	(Likely) pathogenic	3 labs	98dacd729e
11:299411 IFITM5 C>G	11	299411	299411	C	G	IFITM5	c.80G>C	NM_001025295.3	NP_001020466.1:p.(Gly27Ala)	NC_000011.9:g.299411C>G	(Likely) benign	2 labs	ff7c1b55d9
13:101182405 PCCA C>T	13	101182405	101182405	C	T	PCCA	c.2172C>T	NM_000282.4	NP_000273.2:p.(Leu724=)	NC_000013.10:g.101182405C>T	(Likely) benign	2 labs	98d9d4f21c
1:196744069 CFHR3 G>C	1	196744069	196744069	G	C	CFHR3	c.53G>C	NM_021023.5	NP_066303.2:p.(Gly18Ala)	NC_000001.10:g.196744069G>C	(Likely) benign	2 labs	98efde000f
10:88469831 LDB3 G>A	10	88469831	88469831	G	A	LDB3	c.1231+24G>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88469831G>A	(Likely) benign	3 labs	98fad97ef8
17:41258577 BRCA1 A>T	17	41258577	41258577	A	T	BRCA1	c.135-27T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258577A>T	(Likely) benign	3 labs	990b03cefc
17:29665757 NF1 C>A	17	29665757	29665757	C	A	NF1	c.6792C>A	NM_000267.3	NP_000258.1:p.(Tyr2264Ter)	NC_000017.10:g.29665757C>A	(Likely) pathogenic	3 labs	9911695442
17:41246410 BRCA1 G>A	17	41246410	41246410	G	A	BRCA1	c.1138C>T	NM_007294.4	NP_009225.1:p.(Gln380Ter)	NC_000017.10:g.41246410G>A	(Likely) pathogenic	2 labs	ff82182241
1:160012023 KCNJ10 G>T	1	160012023	160012023	G	T	KCNJ10	c.300C>A	NM_002241.4	NP_002232.2:p.(Asp100Glu)	NC_000001.10:g.160012023G>T	(Likely) benign	2 labs	991bb66615
2:179412485 TTN G>A	2	179412485	179412485	G	A	TTN	c.93868C>T	NM_001267550.2	NP_001254479.2:p.(Leu31290=)	NC_000002.11:g.179412485G>A	(Likely) benign	3 labs	9914bfd90c
3:181431007 SOX2 G>A	3	181431007	181431007	G	A	SOX2	c.859G>A	NM_003106.4	NP_003097.1:p.(Ala287Thr)	NC_000003.11:g.181431007G>A	VUS	2 labs	9931721288
X:19817779 SH3KBP1 G>C	X	19817779	19817779	G	C	SH3KBP1	c.24C>G	NM_001024666.2	NP_001019837.1:p.(Ala8=)	NC_000023.10:g.19817779G>C	(Likely) benign	2 labs	992fc07a98
10:69902679 MYPN A>T	10	69902679	69902679	A	T	MYPN	c.903-18A>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69902679A>T	(Likely) benign	3 labs	992c3df30b
7:94228183 SGCE G>C	7	94228183	94228183	G	C	SGCE	c.1157C>G	NM_001099401.1	NP_001092871.1:p.(Thr386Arg)	NC_000007.13:g.94228183G>C	VUS	2 labs	993b8347fc
1:983506 AGRN C>T	1	983506	983506	C	T	AGRN	c.3866C>T	NM_198576.4	NP_940978.2:p.(Pro1289Leu)	NC_000001.10:g.983506C>T	(Likely) benign	4 labs	993b806626
X:19373632 PDHA1 C>G	X	19373632	19373632	C	G	PDHA1	c.873+10C>G	NM_001173454.1	NP_001166925.1:p.?	NC_000023.10:g.19373632C>G	(Likely) benign	2 labs	9940a44fbe
2:179528371 TTN TCAGGCTCTTTAGGAGGAGCCA>T	2	179528371	179528393	TCAGGCTCTTTAGGAGGAGCCA	T	TTN	c.36494_36514del	NM_001267550.2	NP_001254479.2:p.(Val12165_Pro12171del)	NC_000002.11:g.179528373_179528393del	VUS	3 labs	9945362bbe
X:32383152 DMD C>A	X	32383152	32383152	C	A	DMD	c.5010G>T	NM_004006.3	NP_003997.2:p.(Trp1670Cys)	NC_000023.10:g.32383152C>A	(Likely) benign	4 labs	ff8fc38db7
20:744450 SLC52A3 G>A	20	744450	744450	G	A	SLC52A3	c.765C>T	NM_033409.4	NP_212134.3:p.(Leu255=)	NC_000020.10:g.744450G>A	(Likely) benign	3 labs	ff96c3a8e8
5:176637351 NSD1 C>T	5	176637351	176637351	C	T	NSD1	c.1951C>T	NM_022455.4	NP_071900.2:p.(Pro651Ser)	NC_000005.9:g.176637351C>T	(Likely) benign	2 labs	9955d5dde2
6:112512951 LAMA4 C>T	6	112512951	112512951	C	T	LAMA4	c.605G>A	NM_002290.5	NP_002281.3:p.(Cys202Tyr)	NC_000006.11:g.112512951C>T	VUS	2 labs	ff96f99fca
14:103342015 TRAF3 C>T	14	103342015	103342015	C	T	TRAF3	c.352C>T	NM_003300.4	NP_003291.2:p.(Arg118Trp)	NC_000014.8:g.103342015C>T	VUS	4 labs	996888cd58
2:179633413 TTN T>C	2	179633413	179633413	T	C	TTN	c.9150A>G	NM_001267550.2	NP_001254479.2:p.(Thr3050=)	NC_000002.11:g.179633413T>C	(Likely) benign	2 labs	9963c13547
14:23858273 MYH6 G>T	14	23858273	23858273	G	T	MYH6	c.3979-9C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858273G>T	(Likely) benign	3 labs	ff9967d27a
X:41383297 CASK G>GA	X	41383297	41383311	G	GA	CASK	c.2506-11dup	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41383311dup	(Likely) benign	3 labs	998262e7e2
12:124111644 EIF2B1 C>T	12	124111644	124111644	C	T	EIF2B1	c.429G>A	NM_001414.3	NP_001405.1:p.(Ala143=)	NC_000012.11:g.124111644C>T	(Likely) benign	2 labs	998368567a
7:33376047 BBS9 T>C	7	33376047	33376047	T	C	BBS9	c.1017-6T>C	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33376047T>C	(Likely) benign	2 labs	9986fb3ac0
13:32972298 BRCA2 G>T	13	32972298	32972298	G	T	BRCA2	c.9649-1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972298G>T	(Likely) pathogenic	3 labs	998d91a095
1:78383891 NEXN G>A	1	78383891	78383891	G	A	NEXN	c.380G>A	NM_144573.4	NP_653174.3:p.(Arg127His)	NC_000001.10:g.78383891G>A	VUS	3 labs	ff9c4a56bc
13:23914378 SACS A>G	13	23914378	23914378	A	G	SACS	c.3637T>C	NM_014363.5	NP_055178.3:p.(Leu1213=)	NC_000013.10:g.23914378A>G	(Likely) benign	2 labs	9992a051ab
6:152706915 SYNE1 A>G	6	152706915	152706915	A	G	SYNE1	c.8546T>C	NM_182961.3	NP_892006.3:p.(Val2849Ala)	NC_000006.11:g.152706915A>G	VUS	2 labs	99a1f1386f
5:77316593 AP3B1 T>C	5	77316593	77316593	T	C	AP3B1	c.2768A>G	NM_001271769.1	NP_001258698.1:p.(Asn923Ser)	NC_000005.9:g.77316593T>C	(Likely) benign	2 labs	99a5678359
2:150426633 MMADHC T>C	2	150426633	150426633	T	C	MMADHC	c.746A>G	NM_015702.2	NP_056517.1:p.(Tyr249Cys)	NC_000002.11:g.150426633T>C	(Likely) pathogenic	2 labs	99abe175ee
12:69090595 NUP107 C>T	12	69090595	69090595	C	T	NUP107	c.362-4C>T	NM_001330192.1	NP_001317121.1:p.?	NC_000012.11:g.69090595C>T	(Likely) benign	2 labs	99ac40b096
10:27012811 PDSS1 C>G	10	27012811	27012811	C	G	PDSS1	c.176C>G	NM_001321979.1	NP_001308908.1:p.(Ser59Cys)	NC_000010.10:g.27012811C>G	VUS	2 labs	99ac4e59a2
5:77335015 AP3B1 G>T	5	77335015	77335015	G	T	AP3B1	c.2514C>A	NM_001271769.2	NP_001258698.1:p.(Phe838Leu)	NC_000005.9:g.77335015G>T	(Likely) benign	2 labs	ff9f4d5b58
3:14199542 XPC A>G	3	14199542	14199542	A	G	XPC	c.1841T>C	NM_004628.4	NP_004619.3:p.(Phe614Ser)	NC_000003.11:g.14199542A>G	(Likely) benign	2 labs	99af5b6b25
11:67225148 CABP4 C>T	11	67225148	67225148	C	T	CABP4	c.331C>T	NM_001300895.1	NP_001287824.1:p.(Arg111Ter)	NC_000011.9:g.67225148C>T	(Likely) pathogenic	2 labs	99b3939acc
21:47863729 PCNT G>A	21	47863729	47863729	G	A	PCNT	c.9707G>A	NM_006031.5	NP_006022.3:p.(Arg3236Gln)	NC_000021.8:g.47863729G>A	(Likely) benign	2 labs	99b5884419
1:215901574 USH2A C>T	1	215901574	215901574	C	T	USH2A	c.11864G>A	NM_206933.2	NP_996816.2:p.(Trp3955Ter)	NC_000001.10:g.215901574C>T	(Likely) pathogenic	2 labs	99b591322a
2:179440044 TTN C>T	2	179440044	179440044	C	T	TTN	c.70815G>A	NM_001267550.2	NP_001254479.2:p.(Val23605=)	NC_000002.11:g.179440044C>T	(Likely) benign	6 labs	99bc2febbc
19:38942477 RYR1 C>T	19	38942477	38942477	C	T	RYR1	c.1196C>T	NM_000540.2	NP_000531.2:p.(Ala399Val)	NC_000019.9:g.38942477C>T	VUS	2 labs	99bf5c4127
1:241671943 FH C>T	1	241671943	241671943	C	T	FH	c.698G>A	NM_000143.3	NP_000134.2:p.(Arg233His)	NC_000001.10:g.241671943C>T	(Likely) pathogenic	2 labs	99ce526403
8:145640683 SLC39A4 A>G	8	145640683	145640683	A	G	SLC39A4	c.520T>C	NM_017767.2	NP_060237.2:p.(Leu174=)	NC_000008.10:g.145640683A>G	(Likely) benign	2 labs	99d4da8f94
X:107169388 MID2 G>A	X	107169388	107169388	G	A	MID2	c.1662G>A	NM_012216.3	NP_036348.2:p.(Leu554=)	NC_000023.10:g.107169388G>A	(Likely) benign	2 labs	99d7b862c5
17:42337247 SLC4A1 C>T	17	42337247	42337247	C	T	SLC4A1	c.539G>A	NM_000342.3	NP_000333.1:p.(Arg180His)	NC_000017.10:g.42337247C>T	(Likely) benign	3 labs	99d9add1ec
21:34924549 SON T>C	21	34924549	34924549	T	C	SON	c.3012T>C	NM_138927.2	NP_620305.2:p.(Ala1004=)	NC_000021.8:g.34924549T>C	(Likely) benign	2 labs	99db4a3563
6:42666061 PRPH2 T>C	6	42666061	42666061	T	C	PRPH2	c.1013A>G	NM_000322.5	NP_000313.2:p.(Asp338Gly)	NC_000006.11:g.42666061T>C	(Likely) benign	3 labs	99eb2b5780
10:112544665 RBM20 T>G	10	112544665	112544665	T	G	RBM20	c.1527+18T>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544665T>G	(Likely) benign	3 labs	ffa66e1e7e
1:17349215 SDHB C>G	1	17349215	17349215	C	G	SDHB	c.653G>C	NM_003000.3	NP_002991.2:p.(Trp218Ser)	NC_000001.10:g.17349215C>G	(Likely) pathogenic	4 labs	ffa7863560
16:223122 HBA2 A>G	16	223122	223122	A	G	HBA2	c.96-2A>G	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223122A>G	(Likely) pathogenic	2 labs	99e3ee8874
1:100366213 AGL G>A	1	100366213	100366213	G	A	AGL	c.3384G>A	NM_000028.2	NP_000019.2:p.(Ala1128=)	NC_000001.10:g.100366213G>A	(Likely) benign	3 labs	99ee5d75fd
15:85401370 ALPK3 C>T	15	85401370	85401370	C	T	ALPK3	c.3401C>T	NM_020778.5	NP_065829.4:p.(Ala1134Val)	NC_000015.9:g.85401370C>T	(Likely) benign	3 labs	99e224eadf
X:71684582 HDAC8 C>T	X	71684582	71684582	C	T	HDAC8	c.738-1G>A	NM_018486.2	NP_060956.1:p.?	NC_000023.10:g.71684582C>T	(Likely) pathogenic	2 labs	99f3aed903
16:1573890 IFT140 G>A	16	1573890	1573890	G	A	IFT140	c.3209C>T	NM_014714.4	NP_055529.2:p.(Ala1070Val)	NC_000016.9:g.1573890G>A	(Likely) benign	2 labs	99f92e0631
2:179480516 TTN C>T	2	179480516	179480516	C	T	TTN	c.48313-1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179480516C>T	(Likely) pathogenic	2 labs	99fe4cdd64
12:31236856 DDX11 A>G	12	31236856	31236856	A	G	DDX11	c.254A>G	NM_030653.3	NP_085911.2:p.(His85Arg)	NC_000012.11:g.31236856A>G	(Likely) benign	2 labs	9a0021cafd
2:179469049 TTN C>A	2	179469049	179469049	C	A	TTN	c.54382-17G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179469049C>A	(Likely) benign	2 labs	9a02dfd374
8:61754481 CHD7 A>T	8	61754481	61754481	A	T	CHD7				NC_000008.10:g.61754481A>T	(Likely) benign	4 labs	9a0c66a595
17:60651695 TLK2 TTTTATGCTAGGCCCTCTTC>T	17	60651695	60651715	TTTTATGCTAGGCCCTCTTC	T	TLK2	c.1122-9_1131del	NM_001284333.3	NP_001271262.1:p.?	NC_000017.10:g.60651697_60651715del	VUS	2 labs	9a057910d7
6:152780065 SYNE1 C>T	6	152780065	152780065	C	T	SYNE1	c.2395G>A	NM_182961.3	NP_892006.3:p.(Val799Ile)	NC_000006.11:g.152780065C>T	(Likely) benign	2 labs	9a0d993440
15:44952677 SPG11 C>T	15	44952677	44952677	C	T	SPG11	c.395G>A	NM_025137.4	NP_079413.3:p.(Ser132Asn)	NC_000015.9:g.44952677C>T	(Likely) benign	4 labs	ffaa80b042
14:21793114 RPGRIP1 G>T	14	21793114	21793114	G	T	RPGRIP1	c.2100G>T	NM_020366.3	NP_065099.3:p.(Arg700=)	NC_000014.8:g.21793114G>T	(Likely) benign	2 labs	9a16588ac6
4:6302811 WFS1 C>G	4	6302811	6302811	C	G	WFS1	c.1289C>G	NM_006005.3	NP_005996.2:p.(Ser430Trp)	NC_000004.11:g.6302811C>G	(Likely) pathogenic	2 labs	9a19474112
14:76232469 TTLL5 C>T	14	76232469	76232469	C	T	TTLL5	c.1773C>T	NM_015072.5	NP_055887.3:p.(Val591=)	NC_000014.8:g.76232469C>T	(Likely) benign	2 labs	9a126f07f4
15:48936811 FBN1 C>A	15	48936811	48936811	C	A	FBN1	c.156G>T	NM_000138.5	NP_000129.3:p.(Ala52=)	NC_000015.9:g.48936811C>A	(Likely) benign	3 labs	ffad432ca1
1:197297965 CRB1 G>A	1	197297965	197297965	G	A	CRB1	c.277G>A	NM_001257965.1	NP_001244894.1:p.(Val93Met)	NC_000001.10:g.197297965G>A	(Likely) benign	2 labs	9a25e50320
19:15290315 NOTCH3 G>T	19	15290315	15290315	G	T	NOTCH3	c.3328-8C>A	NM_000435.2	NP_000426.2:p.?	NC_000019.9:g.15290315G>T	(Likely) benign	2 labs	9a2796ef6c
19:5711910 LONP1 C>T	19	5711910	5711910	C	T	LONP1	c.550G>A	NM_001276479.1	NP_001263408.1:p.(Asp184Asn)	NC_000019.9:g.5711910C>T	(Likely) benign	2 labs	9a2882b761
6:88240547 RARS2 T>C	6	88240547	88240547	T	C	RARS2	c.201A>G	NM_001350508.1	NP_001337437.1:p.(Gln67=)	NC_000006.11:g.88240547T>C	(Likely) benign	2 labs	9a3b5151f6
6:42666164 PRPH2 G>C	6	42666164	42666164	G	C	PRPH2	c.910C>G	NM_000322.5	NP_000313.2:p.(Gln304Glu)	NC_000006.11:g.42666164G>C	(Likely) benign	3 labs	9a45f3b3c7
12:49433950 KMT2D G>A	12	49433950	49433950	G	A	KMT2D	c.7603C>T	NM_003482.3	NP_003473.3:p.(Arg2535Cys)	NC_000012.11:g.49433950G>A	(Likely) benign	2 labs	9a476b90d6
1:10384871 KIF1B A>C	1	10384871	10384871	A	C	KIF1B				NC_000001.10:g.10384871A>C	(Likely) benign	2 labs	9a47d9452c
2:219920547 IHH G>A	2	219920547	219920547	G	A	IHH	c.618C>T	NM_002181.3	NP_002172.2:p.(Ala206=)	NC_000002.11:g.219920547G>A	(Likely) benign	2 labs	9a4832d67b
3:52019858 ACY1 C>T	3	52019858	52019858	C	T	ACY1	c.265-10C>T	NM_000666.2	NP_000657.1:p.?	NC_000003.11:g.52019858C>T	(Likely) benign	2 labs	9a4a0e1590
3:70005682 MITF G>A	3	70005682	70005682	G	A	MITF	c.1013+1G>A	NM_198159.2	NP_937802.1:p.?	NC_000003.11:g.70005682G>A	(Likely) pathogenic	2 labs	9a4e7dd118
13:32900694 BRCA2 T>C	13	32900694	32900694	T	C	BRCA2	c.575T>C	NM_000059.4	NP_000050.3:p.(Met192Thr)	NC_000013.10:g.32900694T>C	VUS	3 labs	9a53f951e4
3:38645377 SCN5A G>A	3	38645377	38645377	G	A	SCN5A	c.1716C>T	NM_001099404.2	NP_001092874.1:p.(Ala572=)	NC_000003.11:g.38645377G>A	(Likely) benign	5 labs	9a55047d22
9:13190235 MPDZ T>A	9	13190235	13190235	T	A	MPDZ	c.2032A>T	NM_003829.4	NP_003820.2:p.(Thr678Ser)	NC_000009.11:g.13190235T>A	(Likely) benign	3 labs	9a63e0c676
X:2945494 ARSH G>A	X	2945494	2945494	G	A	ARSH	c.1177G>A	NM_001011719.1	NP_001011719.1:p.(Gly393Arg)	NC_000023.10:g.2945494G>A	VUS	2 labs	9a648d44b8
X:105450426 PWWP3B T>C	X	105450426	105450426	T	C	PWWP3B	c.1001T>C	NM_152423.4	NP_689636.3:p.(Met334Thr)	NC_000023.10:g.105450426T>C	(Likely) benign	2 labs	9a66e32540
5:1208964 SLC6A19 T>C	5	1208964	1208964	T	C	SLC6A19	c.306T>C	NM_001003841.3	NP_001003841.1:p.(Gly102=)	NC_000005.9:g.1208964T>C	(Likely) benign	3 labs	ffbd9e7d5b
2:179397350 TTN G>C	2	179397350	179397350	G	C	TTN	c.103992C>G	NM_001267550.2	NP_001254479.2:p.(Leu34664=)	NC_000002.11:g.179397350G>C	(Likely) benign	2 labs	ffc2ce25ab
9:137650095 COL5A1 C>T	9	137650095	137650095	C	T	COL5A1	c.1888C>T	NM_000093.5	NP_000084.3:p.(Arg630Trp)	NC_000009.11:g.137650095C>T	VUS	4 labs	9a6fd173cc
2:202134321 CASP8 T>C	2	202134321	202134321	T	C	CASP8	c.394T>C	NM_001228.4	NP_001219.2:p.(Leu132=)	NC_000002.11:g.202134321T>C	(Likely) benign	2 labs	9a6e7e59e7
1:216074169 USH2A C>T	1	216074169	216074169	C	T	USH2A	c.7379G>A	NM_206933.2	NP_996816.2:p.(Arg2460His)	NC_000001.10:g.216074169C>T	VUS	2 labs	9a837cf9da
2:32460623 NLRC4 C>T	2	32460623	32460623	C	T	NLRC4	c.2629G>A	NM_021209.4	NP_067032.3:p.(Val877Met)	NC_000002.11:g.32460623C>T	(Likely) benign	2 labs	9a84948849
12:49445669 KMT2D C>T	12	49445669	49445669	C	T	KMT2D	c.1797G>A	NM_003482.3	NP_003473.3:p.(Leu599=)	NC_000012.11:g.49445669C>T	(Likely) benign	2 labs	9a858127cd
9:140952606 CACNA1B C>T	9	140952606	140952606	C	T	CACNA1B	c.4212C>T	NM_000718.4	NP_000709.1:p.(Pro1404=)	NC_000009.11:g.140952606C>T	(Likely) benign	2 labs	9a85f8600e
20:42788644 JPH2 C>G	20	42788644	42788644	C	G	JPH2	c.783G>C	NM_020433.4	NP_065166.2:p.(Ala261=)	NC_000020.10:g.42788644C>G	(Likely) benign	2 labs	9a8e8afe76
1:152279406 FLG T>G	1	152279406	152279406	T	G	FLG	c.7956A>C	NM_002016.2	NP_002007.1:p.(Glu2652Asp)	NC_000001.10:g.152279406T>G	(Likely) benign	2 labs	ffc640be77
6:170169738 ERMARD A>G	6	170169738	170169738	A	G	ERMARD	c.1162A>G	NM_018341.2	NP_060811.1:p.(Asn388Asp)	NC_000006.11:g.170169738A>G	(Likely) benign	2 labs	9a9b46acc3
20:62324166 RTEL1 C>T	20	62324166	62324166	C	T	RTEL1	c.2661C>T	NM_001283009.1	NP_001269938.1:p.(Pro887=)	NC_000020.10:g.62324166C>T	(Likely) benign	2 labs	9a9ead16ef
5:41203323 C6 G>A	5	41203323	41203323	G	A	C6	c.10C>T	NM_001115131.2	NP_001108603.2:p.(Arg4Cys)	NC_000005.9:g.41203323G>A	(Likely) benign	2 labs	9aa3c3f419
21:46927507 COL18A1 G>A	21	46927507	46927507	G	A	COL18A1	c.3249G>A	NM_001379500.1	NP_001366429.1:p.(Thr1083=)	NC_000021.8:g.46927507G>A	(Likely) benign	2 labs	9aa75a7c12
10:104404644 TRIM8 G>A	10	104404644	104404644	G	A	TRIM8	c.270G>A	NM_030912.2	NP_112174.2:p.(Leu90=)	NC_000010.10:g.104404644G>A	(Likely) benign	2 labs	9aa49139aa
11:47362642 MYBPC3 C>T	11	47362642	47362642	C	T	MYBPC3	c.1897+47G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362642C>T	(Likely) benign	2 labs	9aa6d0202f
15:77324645 PSTPIP1 G>A	15	77324645	77324645	G	A	PSTPIP1	c.721G>A	NM_001321136.1	NP_001308065.1:p.(Glu241Lys)	NC_000015.9:g.77324645G>A	(Likely) pathogenic	3 labs	9ab4450663
4:73178188 ADAMTS3 A>C	4	73178188	73178188	A	C	ADAMTS3	c.1746-5T>G	NM_014243.2	NP_055058.2:p.?	NC_000004.11:g.73178188A>C	(Likely) benign	2 labs	9abb955d52
12:48376733 COL2A1 C>T	12	48376733	48376733	C	T	COL2A1	c.2095-4G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48376733C>T	(Likely) benign	2 labs	9abc8a4de4
6:16326671 ATXN1 G>A	6	16326671	16326671	G	A	ATXN1	c.1871C>T	NM_000332.3	NP_000323.2:p.(Pro624Leu)	NC_000006.11:g.16326671G>A	VUS	2 labs	9abd787a49
19:4102354 MAP2K2 T>C	19	4102354	4102354	T	C	MAP2K2	c.528+20A>G	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4102354T>C	(Likely) benign	2 labs	ffd4fe7a7d
19:8550777 HNRNPM G>A	19	8550777	8550777	G	A	HNRNPM	c.1465G>A	NM_005968.4	NP_005959.2:p.(Gly489Ser)	NC_000019.9:g.8550777G>A	VUS	2 labs	9ac44a60d7
6:7583885 DSP T>C	6	7583885	7583885	T	C	DSP	c.6390T>C	NM_004415.4	NP_004406.2:p.(Ala2130=)	NC_000006.11:g.7583885T>C	(Likely) benign	5 labs	ffdc337835
2:179605727 TTN G>A	2	179605727	179605727	G	A	TTN	c.12233C>T	NM_001267550.2	NP_001254479.2:p.(Thr4078Ile)	NC_000002.11:g.179605727G>A	(Likely) benign	3 labs	9ac012da6a
2:48026630 MSH6 C>G	2	48026630	48026630	C	G	MSH6	c.1508C>G	NM_000179.3	NP_000170.1:p.(Ser503Cys)	NC_000002.11:g.48026630C>G	(Likely) benign	6 labs	ffdd9418d7
1:3342659 PRDM16 G>A	1	3342659	3342659	G	A	PRDM16	c.3154G>A	NM_022114.4	NP_071397.3:p.(Ala1052Thr)	NC_000001.10:g.3342659G>A	(Likely) benign	2 labs	ffe708797b
3:93593119 PROS1 T>C	3	93593119	93593119	T	C	PROS1	c.2001A>G	NM_000313.4	NP_000304.2:p.(Pro667=)	NC_000003.11:g.93593119T>C	(Likely) benign	2 labs	ffe7bd2775
10:69905257 MYPN C>T	10	69905257	69905257	C	T	MYPN	c.222C>T	NM_001256268.2	NP_001243197.1:p.(Gly74=)	NC_000010.10:g.69905257C>T	(Likely) benign	5 labs	9ad49efe8f
15:93518187 CHD2 T>C	15	93518187	93518187	T	C	CHD2	c.2577+7T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93518187T>C	(Likely) benign	3 labs	9ad5e2aef9
17:29679246 NF1 G>A	17	29679246	29679246	G	A	NF1	c.7395-29G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29679246G>A	(Likely) benign	2 labs	9adff2f82c
2:70441562 TIA1 T>C	2	70441562	70441562	T	C	TIA1	c.953A>G	NM_022173.3	NP_071505.2:p.(Gln318Arg)	NC_000002.11:g.70441562T>C	(Likely) benign	2 labs	9ae2cd55ea
X:6451959 VCX3A C>G	X	6451959	6451959	C	G	VCX3A	c.388G>C	NM_016379.3	NP_057463.2:p.(Val130Leu)	NC_000023.10:g.6451959C>G	(Likely) benign	2 labs	9ae4a2eff8
19:15298031 NOTCH3 C>T	19	15298031	15298031	C	T	NOTCH3	c.1725G>A	NM_000435.3	NP_000426.2:p.(Thr575=)	NC_000019.9:g.15298031C>T	(Likely) benign	3 labs	9ae3ae0a57
1:200539136 KIF14 G>GA	1	200539136	200539142	G	GA	KIF14	c.3567-4dup	NM_014875.2	NP_055690.1:p.?	NC_000001.10:g.200539142dup	(Likely) benign	2 labs	9ae687e0f2
1:155205518 GBA1 C>G	1	155205518	155205518	C	G	GBA1	c.1342G>C	NM_000157.4	NP_000148.2:p.(Asp448His)	NC_000001.10:g.155205518C>G	(Likely) pathogenic	2 labs	9ae848bb1d
13:20763074 GJB2 C>A	13	20763074	20763074	C	A	GJB2	c.647G>T	NM_004004.6	NP_003995.2:p.(Arg216Ile)	NC_000013.10:g.20763074C>A	VUS	2 labs	9aed17fc97
11:112099314 PTS C>T	11	112099314	112099314	C	T	PTS	c.84-3C>T	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099314C>T	(Likely) benign	2 labs	ffe9eb645e
10:121411368 BAG3 G>A	10	121411368	121411368	G	A	BAG3	c.180+1G>A	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121411368G>A	(Likely) pathogenic	2 labs	9b16a26782
4:151835502 LRBA G>GA	4	151835502	151835513	G	GA	LRBA	c.1015-10dup	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151835513dup	(Likely) benign	2 labs	9b123a1d1e
X:17746155 NHS G>T	X	17746155	17746155	G	T	NHS	c.3929G>T	NM_001291867.1	NP_001278796.1:p.(Gly1310Val)	NC_000023.10:g.17746155G>T	(Likely) benign	3 labs	9b13c0c786
17:29560133 NF1 C>G	17	29560133	29560133	C	G	NF1	c.3610C>G	NM_000267.3	NP_000258.1:p.(Arg1204Gly)	NC_000017.10:g.29560133C>G	(Likely) pathogenic	2 labs	9b1413429b
2:179436326 TTN T>G	2	179436326	179436326	T	G	TTN	c.74533A>C	NM_001267550.2	NP_001254479.2:p.(Ile24845Leu)	NC_000002.11:g.179436326T>G	VUS	4 labs	fff63522f0
9:140707992 EHMT1 G>T	9	140707992	140707992	G	T	EHMT1	c.3180+10G>T	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140707992G>T	(Likely) benign	2 labs	9b1fab5792
12:103260410 PAH C>T	12	103260410	103260410	C	T	PAH	c.473G>A	NM_000277.3	NP_000268.1:p.(Arg158Gln)	NC_000012.11:g.103260410C>T	(Likely) pathogenic	5 labs	9b395a9c6b
7:92762797 SAMD9L C>A	7	92762797	92762797	C	A	SAMD9L	c.2488G>T	NM_152703.4	NP_689916.2:p.(Glu830Ter)	NC_000007.13:g.92762797C>A	VUS	2 labs	9b3a4eaebf
22:37266453 NCF4 A>G	22	37266453	37266453	A	G	NCF4	c.343-4A>G	NM_013416.3	NP_038202.2:p.?	NC_000022.10:g.37266453A>G	(Likely) benign	2 labs	9b3bf40b45
17:78079710 GAA G>C	17	78079710	78079710	G	C	GAA	c.692+17G>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079710G>C	(Likely) benign	2 labs	9b3e39ac71
10:73571179 CDH23 T>C	10	73571179	73571179	T	C	CDH23	c.9185T>C	NM_022124.5	NP_071407.4:p.(Met3062Thr)	NC_000010.10:g.73571179T>C	VUS	2 labs	9b44970bde
5:90007092 ADGRV1 C>G	5	90007092	90007092	C	G	ADGRV1	c.8995C>G	NM_032119.4	NP_115495.3:p.(Gln2999Glu)	NC_000005.9:g.90007092C>G	VUS	2 labs	9b487de490
13:32945125 BRCA2 A>G	13	32945125	32945125	A	G	BRCA2	c.8520A>G	NM_000059.4	NP_000050.3:p.(Ile2840Met)	NC_000013.10:g.32945125A>G	VUS	2 labs	9b572df9a9
18:6943343 LAMA1 G>A	18	6943343	6943343	G	A	LAMA1	c.8903C>T	NM_005559.4	NP_005550.2:p.(Thr2968Ile)	NC_000018.9:g.6943343G>A	(Likely) benign	2 labs	9b4dbdf060
1:43881759 SZT2 G>A	1	43881759	43881759	G	A	SZT2	c.759G>A	NM_015284.3	NP_056099.3:p.(Ser253=)	NC_000001.10:g.43881759G>A	(Likely) benign	2 labs	9b5faa80d2
10:13693898 FRMD4A G>A	10	13693898	13693898	G	A	FRMD4A	c.*2+5C>T	NM_001318337.2	NP_001305266.1:p.?	NC_000010.10:g.13693898G>A	(Likely) benign	2 labs	9b669992bb
1:1455610 ATAD3A G>A	1	1455610	1455610	G	A	ATAD3A	c.604G>A	NM_001170535.3	NP_001164006.1:p.(Glu202Lys)	NC_000001.10:g.1455610G>A	VUS	2 labs	9b69d73aa8
18:29122715 DSG2 C>T	18	29122715	29122715	C	T	DSG2	c.2234C>T	NM_001943.3	NP_001934.2:p.(Thr745Met)	NC_000018.9:g.29122715C>T	(Likely) benign	2 labs	9b6ddca92a
3:30713842 TGFBR2 C>T	3	30713842	30713842	C	T	TGFBR2	c.1242C>T	NM_001024847.2	NP_001020018.1:p.(Asn414=)	NC_000003.11:g.30713842C>T	(Likely) benign	2 labs	9b6cec40f1
10:73121938 SLC29A3 A>G	10	73121938	73121938	A	G	SLC29A3	c.767A>G	NM_001363518.1	NP_001350447.1:p.(Asn256Ser)	NC_000010.10:g.73121938A>G	(Likely) benign	3 labs	9b8a83119d
17:78081515 GAA G>A	17	78081515	78081515	G	A	GAA	c.852G>A	NM_000152.3	NP_000143.2:p.(Ala284=)	NC_000017.10:g.78081515G>A	(Likely) benign	3 labs	9b8e45c120
9:71668077 FXN T>A	9	71668077	71668077	T	A	FXN	c.285T>A	NM_181425.2	NP_852090.1:p.(Tyr95Ter)	NC_000009.11:g.71668077T>A	(Likely) pathogenic	2 labs	9b90512576
6:79656600 PHIP GA>G	6	79656600	79656610	GA	G	PHIP	c.4207-10del	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79656610del	(Likely) benign	2 labs	9b94513632
7:74202933 NCF1 C>T	7	74202933	74202933	C	T	NCF1	c.936C>T	NM_000265.5	NP_000256.4:p.(His312=)	NC_000007.13:g.74202933C>T	(Likely) benign	2 labs	9b9671d948
1:151378489 POGZ G>A	1	151378489	151378489	G	A	POGZ	c.3022C>T	NM_015100.4	NP_055915.2:p.(Arg1008Ter)	NC_000001.10:g.151378489G>A	(Likely) pathogenic	2 labs	9b99c33423
19:54313859 NLRP12 G>A	19	54313859	54313859	G	A	NLRP12	c.1054C>T	NM_001277126.2	NP_001264055.1:p.(Arg352Cys)	NC_000019.9:g.54313859G>A	VUS	4 labs	9ba7f077de
9:117169021 WHRN G>A	9	117169021	117169021	G	A	WHRN	c.1850C>T	NM_015404.4	NP_056219.3:p.(Ser617Leu)	NC_000009.11:g.117169021G>A	VUS	2 labs	9bae89c78b
16:1256216 CACNA1H G>A	16	1256216	1256216	G	A	CACNA1H	c.2716G>A	NM_021098.2	NP_066921.2:p.(Val906Met)	NC_000016.9:g.1256216G>A	(Likely) benign	2 labs	9bbb2081eb
2:166848840 SCN1A G>A	2	166848840	166848840	G	A	SCN1A	c.4945C>T	NM_001165963.4	NP_001159435.1:p.(Leu1649=)	NC_000002.11:g.166848840G>A	(Likely) benign	3 labs	9bbe591f89
4:6303717 WFS1 G>A	4	6303717	6303717	G	A	WFS1	c.2195G>A	NM_006005.3	NP_005996.2:p.(Arg732His)	NC_000004.11:g.6303717G>A	VUS	4 labs	9bbfefa0ad
15:35085650 ACTC1 T>A	15	35085650	35085650	T	A	ACTC1	c.250A>T	NM_005159.5	NP_005150.1:p.(Met84Leu)	NC_000015.9:g.35085650T>A	VUS	3 labs	9bcc112431
14:74988734 LTBP2 C>T	14	74988734	74988734	C	T	LTBP2	c.2668G>A	NM_000428.3	NP_000419.1:p.(Glu890Lys)	NC_000014.8:g.74988734C>T	VUS	2 labs	9bcd466f5a
X:32563281 DMD C>T	X	32563281	32563281	C	T	DMD	c.1794G>A	NM_004010.3	NP_004001.1:p.(Arg598=)	NC_000023.10:g.32563281C>T	(Likely) benign	2 labs	9bd5f3f660
6:65301824 EYS T>C	6	65301824	65301824	T	C	EYS	c.3936A>G	NM_001142800.1	NP_001136272.1:p.(Thr1312=)	NC_000006.11:g.65301824T>C	(Likely) benign	2 labs	9bda6d7d7b
11:31811487 PAX6 G>T	11	31811487	31811487	G	T	PAX6	c.856C>A	NM_001310160.1	NP_001297089.1:p.(Gln286Lys)	NC_000011.9:g.31811487G>T	(Likely) benign	2 labs	9bdf5f8bdc
12:124172731 TCTN2 G>A	12	124172731	124172731	G	A	TCTN2	c.891+7G>A	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124172731G>A	(Likely) benign	2 labs	9beab83871
11:94180388 MRE11 T>C	11	94180388	94180388	T	C	MRE11	c.1780A>G	NM_001330347.1	NP_001317276.1:p.(Arg594Gly)	NC_000011.9:g.94180388T>C	(Likely) benign	2 labs	9beb5705e4
8:100205255 VPS13B G>A	8	100205255	100205255	G	A	VPS13B	c.2485G>A	NM_017890.4	NP_060360.3:p.(Ala829Thr)	NC_000008.10:g.100205255G>A	(Likely) benign	3 labs	9bf7654f65
7:17378917 AHR A>G	7	17378917	17378917	A	G	AHR	c.1468A>G	NM_001621.5	NP_001612.1:p.(Met490Val)	NC_000007.13:g.17378917A>G	(Likely) benign	2 labs	9bf7309e02
16:88901744 GALNS G>T	16	88901744	88901744	G	T	GALNS	c.793C>A	NM_001323544.2	NP_001310473.1:p.(Arg265=)	NC_000016.9:g.88901744G>T	(Likely) benign	2 labs	9bfcaf022d
17:29654857 NF1 G>A	17	29654857	29654857	G	A	NF1	c.5546G>A	NM_000267.3	NP_000258.1:p.(Arg1849Gln)	NC_000017.10:g.29654857G>A	(Likely) pathogenic	2 labs	9c05ee1aff
12:56115687 RDH5 C>T	12	56115687	56115687	C	T	RDH5	c.525C>T	NM_001199771.3	NP_001186700.1:p.(Tyr175=)	NC_000012.11:g.56115687C>T	(Likely) benign	2 labs	9bf94e944c
X:50376881 SHROOM4 T>C	X	50376881	50376881	T	C	SHROOM4	c.2192A>G	NM_020717.5	NP_065768.2:p.(Glu731Gly)	NC_000023.10:g.50376881T>C	(Likely) benign	3 labs	9c1987956d
2:179585804 TTN C>T	2	179585804	179585804	C	T	TTN	c.22942G>A	NM_001267550.2	NP_001254479.2:p.(Glu7648Lys)	NC_000002.11:g.179585804C>T	(Likely) benign	3 labs	9c237fb42a
X:39911496 BCOR C>T	X	39911496	39911496	C	T	BCOR	c.5134G>A	NM_001123385.2	NP_001116857.1:p.(Asp1712Asn)	NC_000023.10:g.39911496C>T	VUS	3 labs	9c29c77026
4:120085448 MYOZ2 A>G	4	120085448	120085448	A	G	MYOZ2	c.459A>G	NM_016599.5	NP_057683.1:p.(Glu153=)	NC_000004.11:g.120085448A>G	(Likely) benign	3 labs	9c20f3bd40
20:62319501 RTEL1 G>A	20	62319501	62319501	G	A	RTEL1	c.1605G>A	NM_001283009.1	NP_001269938.1:p.(Glu535=)	NC_000020.10:g.62319501G>A	(Likely) benign	2 labs	9c2eb59d24
X:152857994 CCNQ G>A	X	152857994	152857994	G	A	CCNQ	c.627C>T	NM_152274.4	NP_689487.2:p.(Ala209=)	NC_000023.10:g.152857994G>A	(Likely) benign	3 labs	9c34a5bb2e
10:121429413 BAG3 G>A	10	121429413	121429413	G	A	BAG3	c.231G>A	NM_004281.4	NP_004272.2:p.(Pro77=)	NC_000010.10:g.121429413G>A	(Likely) benign	5 labs	9c3bad7f50
20:1963657 PDYN C>T	20	1963657	1963657	C	T	PDYN	c.74G>A	NM_024411.4	NP_077722.1:p.(Arg25Gln)	NC_000020.10:g.1963657C>T	(Likely) benign	2 labs	9c46fef4ba
13:23909162 SACS A>G	13	23909162	23909162	A	G	SACS	c.8853T>C	NM_014363.5	NP_055178.3:p.(Val2951=)	NC_000013.10:g.23909162A>G	(Likely) benign	2 labs	9c4853bef8
X:40460097 ATP6AP2 T>C	X	40460097	40460097	T	C	ATP6AP2	c.822T>C	NM_005765.2	NP_005756.2:p.(Ile274=)	NC_000023.10:g.40460097T>C	(Likely) benign	2 labs	9c4d6d2579
12:32955330 PKP2 G>A	12	32955330	32955330	G	A	PKP2	c.2299+7C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955330G>A	(Likely) benign	5 labs	9c4b64398e
10:112660164 BBIP1 C>T	10	112660164	112660164	C	T	BBIP1	c.233G>A	NM_001195305.3	NP_001182234.1:p.(Arg78His)	NC_000010.10:g.112660164C>T	(Likely) benign	2 labs	9c50e64703
3:49160671 LAMB2 T>C	3	49160671	49160671	T	C	LAMB2	c.4118A>G	NM_002292.3	NP_002283.3:p.(Asp1373Gly)	NC_000003.11:g.49160671T>C	(Likely) benign	3 labs	9c60a6ac9a
16:4391476 PAM16 G>A	16	4391476	4391476	G	A	PAM16	c.118C>T	NM_016069.10	NP_057153.8:p.(Arg40Cys)	NC_000016.9:g.4391476G>A	VUS	2 labs	9c61d6a8c1
2:163144674 IFIH1 G>T	2	163144674	163144674	G	T	IFIH1	c.1066C>A	NM_022168.4	NP_071451.2:p.(Pro356Thr)	NC_000002.11:g.163144674G>T	(Likely) benign	3 labs	9c651b31c2
2:179582514 TTN C>A	2	179582514	179582514	C	A	TTN	c.25087G>T	NM_001267550.2	NP_001254479.2:p.(Ala8363Ser)	NC_000002.11:g.179582514C>A	(Likely) benign	2 labs	9c609884fb
21:46932328 COL18A1 G>A	21	46932328	46932328	G	A	COL18A1	c.*16G>A	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46932328G>A	(Likely) benign	2 labs	9c6c953df9
6:65303100 EYS T>C	6	65303100	65303100	T	C	EYS	c.3787A>G	NM_001142800.1	NP_001136272.1:p.(Ile1263Val)	NC_000006.11:g.65303100T>C	(Likely) benign	2 labs	9c6aeae1f0
8:145005769 PLEC C>T	8	145005769	145005769	C	T	PLEC	c.2648G>A	NM_201380.3	NP_958782.1:p.(Arg883His)	NC_000008.10:g.145005769C>T	(Likely) benign	2 labs	9c6b6d68fc
2:128047304 ERCC3 G>A	2	128047304	128047304	G	A	ERCC3	c.426C>T	NM_001303418.1	NP_001290347.1:p.(Ala142=)	NC_000002.11:g.128047304G>A	(Likely) benign	2 labs	9c6cb8236b
4:1808395 FGFR3 A>G	4	1808395	1808395	A	G	FGFR3	c.2153A>G	NM_000142.4	NP_000133.1:p.(Asn718Ser)	NC_000004.11:g.1808395A>G	(Likely) benign	2 labs	9c6f1bf28b
11:103039707 DYNC2H1 G>A	11	103039707	103039707	G	A	DYNC2H1	c.4968+18G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103039707G>A	(Likely) benign	2 labs	9c8160e6f6
2:31569660 XDH T>G	2	31569660	31569660	T	G	XDH	c.3326A>C	NM_000379.3	NP_000370.2:p.(Asn1109Thr)	NC_000002.11:g.31569660T>G	(Likely) benign	2 labs	9c830c48d0
2:241808317 AGXT A>G	2	241808317	241808317	A	G	AGXT	c.35A>G	NM_000030.2	NP_000021.1:p.(Lys12Arg)	NC_000002.11:g.241808317A>G	(Likely) benign	2 labs	9c8333256a
20:61467898 COL9A3 G>C	20	61467898	61467898	G	C	COL9A3	c.1603+14G>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61467898G>C	(Likely) benign	4 labs	9c8cb3da4e
1:22987340 C1QB G>A	1	22987340	22987340	G	A	C1QB	c.223G>A	NM_000491.5	NP_000482.3:p.(Gly75Arg)	NC_000001.10:g.22987340G>A	VUS	2 labs	9c956503b2
20:10637098 JAG1 G>A	20	10637098	10637098	G	A	JAG1	c.703C>T	NM_000214.3	NP_000205.1:p.(Arg235Ter)	NC_000020.10:g.10637098G>A	(Likely) pathogenic	2 labs	9c9b276b8c
10:73501613 CDH23 C>T	10	73501613	73501613	C	T	CDH23	c.4780C>T	NM_022124.5	NP_071407.4:p.(Arg1594Cys)	NC_000010.10:g.73501613C>T	VUS	2 labs	9c9ed7b871
13:32900436 BRCA2 G>T	13	32900436	32900436	G	T	BRCA2	c.516+17G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900436G>T	(Likely) benign	2 labs	9ca12327df
11:637536 DRD4 GCCGCCGACCTCCT>G	11	637536	637551	GCCGCCGACCTCCT	G	DRD4	c.235_247del	NM_000797.4	NP_000788.2:p.(Ala79SerfsTer21)	NC_000011.9:g.637539_637551del	(Likely) benign	2 labs	9ca295de87
9:134395580 POMT1 C>T	9	134395580	134395580	C	T	POMT1	c.1698C>T	NM_001136113.2	NP_001129585.1:p.(Ser566=)	NC_000009.11:g.134395580C>T	(Likely) benign	2 labs	9ca3b1f6a5
11:66475296 SPTBN2 C>T	11	66475296	66475296	C	T	SPTBN2	c.1351-7G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66475296C>T	(Likely) benign	2 labs	9caebd6ce3
4:6302830 WFS1 C>T	4	6302830	6302830	C	T	WFS1	c.1308C>T	NM_006005.3	NP_005996.2:p.(Thr436=)	NC_000004.11:g.6302830C>T	(Likely) benign	3 labs	9cafc7a891
X:153296295 MECP2 G>A	X	153296295	153296295	G	A	MECP2	c.984C>T	NM_004992.3	NP_004983.1:p.(Leu328=)	NC_000023.10:g.153296295G>A	(Likely) benign	2 labs	9cb1b74da5
15:49088198 CEP152 G>A	15	49088198	49088198	G	A	CEP152	c.691+9C>T	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49088198G>A	(Likely) benign	2 labs	9cb6f0aa75
5:149323955 PDE6A C>T	5	149323955	149323955	C	T	PDE6A	c.282G>A	NM_000440.3	NP_000431.2:p.(Met94Ile)	NC_000005.9:g.149323955C>T	VUS	2 labs	9cbade19f4
1:21894686 ALPL G>T	1	21894686	21894686	G	T	ALPL	c.738G>T	NM_000478.5	NP_000469.3:p.(Arg246Ser)	NC_000001.10:g.21894686G>T	(Likely) pathogenic	2 labs	9cbfc59a8d
2:48025694 MSH6 C>T	2	48025694	48025694	C	T	MSH6	c.628-56C>T	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48025694C>T	(Likely) benign	2 labs	9cd14f0a63
2:109399322 RANBP2 G>A	2	109399322	109399322	G	A	RANBP2	c.9369+4G>A	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109399322G>A	(Likely) benign	3 labs	9cd31ca7cc
2:179458731 TTN GT>G	2	179458731	179458733	GT	G	TTN	c.58388del	NM_001267550.2	NP_001254479.2:p.(Asn19463ThrfsTer22)	NC_000002.11:g.179458733del	(Likely) pathogenic	2 labs	9cd12a4e8c
17:39977305 FKBP10 A>G	17	39977305	39977305	A	G	FKBP10	c.1363A>G	NM_021939.4	NP_068758.3:p.(Ile455Val)	NC_000017.10:g.39977305A>G	(Likely) benign	3 labs	9cd3466190
16:2138422 TSC2 C>G	16	2138422	2138422	C	G	TSC2	c.5260-25C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138422C>G	(Likely) benign	2 labs	9cdb46cae7
X:66765158 AR TGCAGCAGCAGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCAGCAGCAGCA	T	AR	c.219_239del	NM_000044.6	NP_000035.2:p.(Gln74_Gln80del)	NC_000023.10:g.66765207_66765227del	(Likely) benign	2 labs	9cdb842297
6:157488325 ARID1B C>T	6	157488325	157488325	C	T	ARID1B	c.3274+6C>T	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157488325C>T	(Likely) benign	4 labs	9ceb3742eb
2:166773796 TTC21B T>C	2	166773796	166773796	T	C	TTC21B	c.1870A>G	NM_024753.4	NP_079029.3:p.(Ile624Val)	NC_000002.11:g.166773796T>C	(Likely) benign	2 labs	9cf6f63378
8:48827976 PRKDC G>A	8	48827976	48827976	G	A	PRKDC	c.2529C>T	NM_006904.6	NP_008835.5:p.(Asn843=)	NC_000008.10:g.48827976G>A	(Likely) benign	2 labs	9cfd00f5f6
8:72111599 EYA1 A>G	8	72111599	72111599	A	G	EYA1	c.1755T>C	NM_000503.6	NP_000494.2:p.(His585=)	NC_000008.10:g.72111599A>G	(Likely) benign	4 labs	9d07bfeee7
2:189853358 COL3A1 G>A	2	189853358	189853358	G	A	COL3A1	c.625G>A	NM_000090.3	NP_000081.1:p.(Ala209Thr)	NC_000002.11:g.189853358G>A	VUS	2 labs	9d002668c5
7:4824629 AP5Z1 G>A	7	4824629	4824629	G	A	AP5Z1	c.881G>A	NM_014855.3	NP_055670.1:p.(Arg294Gln)	NC_000007.13:g.4824629G>A	(Likely) benign	4 labs	9d06593a76
5:155771618 SGCD C>G	5	155771618	155771618	C	G	SGCD	c.123C>G	NM_000337.6	NP_000328.2:p.(Leu41=)	NC_000005.9:g.155771618C>G	(Likely) benign	3 labs	9d0a689700
X:119211087 RHOXF2B GCCGCCGCCATCTTTTTCTTCT>G	X	119211087	119211134	GCCGCCGCCATCTTTTTCTTCT	G	RHOXF2B	c.225_245del	NM_001099685.3	NP_001093155.1:p.(Glu76_Gly82del)	NC_000023.10:g.119211114_119211134del	VUS	2 labs	9d0d018930
14:68191305 RDH12 C>T	14	68191305	68191305	C	T	RDH12	c.184C>T	NM_152443.2	NP_689656.2:p.(Arg62Ter)	NC_000014.8:g.68191305C>T	(Likely) pathogenic	2 labs	9d15d3f19b
X:150840673 PASD1 G>A	X	150840673	150840673	G	A	PASD1	c.1456G>A	NM_173493.2	NP_775764.2:p.(Glu486Lys)	NC_000023.10:g.150840673G>A	(Likely) benign	2 labs	9d1c020dfc
19:10528376 PDE4A T>A	19	10528376	10528376	T	A	PDE4A	c.89T>A	NM_001243121.1	NP_001230050.1:p.(Leu30Gln)	NC_000019.9:g.10528376T>A	VUS	2 labs	9d37362f23
9:103015184 INVS T>C	9	103015184	103015184	T	C	INVS	c.1235-5T>C	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103015184T>C	(Likely) benign	2 labs	9d4a431bf4
6:112450156 LAMA4 A>C	6	112450156	112450156	A	C	LAMA4	c.4255T>G	NM_001105206.2	NP_001098676.2:p.(Leu1419Val)	NC_000006.11:g.112450156A>C	(Likely) benign	2 labs	9d471e0a00
17:41245534 BRCA1 T>A	17	41245534	41245534	T	A	BRCA1	c.2014A>T	NM_007294.4	NP_009225.1:p.(Lys672Ter)	NC_000017.10:g.41245534T>A	(Likely) pathogenic	2 labs	9d527b6606
16:3304158 MEFV C>T	16	3304158	3304158	C	T	MEFV	c.910G>A	NM_000243.2	NP_000234.1:p.(Gly304Arg)	NC_000016.9:g.3304158C>T	(Likely) benign	2 labs	9d52bfeb70
1:32741634 LCK G>A	1	32741634	32741634	G	A	LCK	c.601G>A	NM_005356.4	NP_005347.3:p.(Gly201Ser)	NC_000001.10:g.32741634G>A	(Likely) benign	2 labs	9d576eb1b7
11:102056745 YAP1 A>T	11	102056745	102056745	A	T	YAP1	c.689-4A>T	NM_001282101.2	NP_001269030.1:p.?	NC_000011.9:g.102056745A>T	(Likely) benign	3 labs	9d563692de
10:73537449 CDH23 G>A	10	73537449	73537449	G	A	CDH23	c.4858G>A	NM_022124.5	NP_071407.4:p.(Val1620Met)	NC_000010.10:g.73537449G>A	(Likely) benign	2 labs	9d71c46a80
2:191856001 STAT1 C>T	2	191856001	191856001	C	T	STAT1	c.990G>A	NM_007315.3	NP_009330.1:p.(Gln330=)	NC_000002.11:g.191856001C>T	(Likely) benign	2 labs	9d77ba23d0
14:23871731 MYH6 C>A	14	23871731	23871731	C	A	MYH6	c.1083G>T	NM_002471.4	NP_002462.2:p.(Gly361=)	NC_000014.8:g.23871731C>A	(Likely) benign	4 labs	9d780eee3b
11:32410605 WT1 C>T	11	32410605	32410605	C	T	WT1				NC_000011.9:g.32410605C>T	(Likely) benign	2 labs	9d7a2cebcf
X:48900727 TFE3 C>G	X	48900727	48900727	C	G	TFE3	c.26G>C	NM_006521.5	NP_006512.2:p.(Arg9Pro)	NC_000023.10:g.48900727C>G	(Likely) benign	2 labs	9d7e8dad94
2:48033493 MSH6 ATATGG>A	2	48033493	48033502	ATATGG	A	MSH6	c.3801+1_3801+5del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033498_48033502del	(Likely) pathogenic	2 labs	9d81fad78b
11:67761180 UNC93B1 G>A	11	67761180	67761180	G	A	UNC93B1	c.1449C>T	NM_030930.2	NP_112192.2:p.(Phe483=)	NC_000011.9:g.67761180G>A	(Likely) benign	2 labs	9d84c1c90c
16:2139871 PKD1 C>T	16	2139871	2139871	C	T	PKD1	c.12769G>A	NM_001009944.2	NP_001009944.2:p.(Gly4257Arg)	NC_000016.9:g.2139871C>T	(Likely) benign	2 labs	9d89c8e0ec
13:32931957 BRCA2 G>A	13	32931957	32931957	G	A	BRCA2	c.7696G>A	NM_000059.3	NP_000050.2:p.(Asp2566Asn)	NC_000013.10:g.32931957G>A	VUS	2 labs	9d8c09029c
X:47061801 UBA1 G>A	X	47061801	47061801	G	A	UBA1	c.954G>A	NM_003334.4	NP_003325.2:p.(Thr318=)	NC_000023.10:g.47061801G>A	(Likely) benign	2 labs	9d8df5386c
1:235966343 LYST ATTC>A	1	235966343	235966350	ATTC	A	LYST	c.3574_3576del	NM_000081.4	NP_000072.2:p.(Glu1192del)	NC_000001.10:g.235966348_235966350del	VUS	2 labs	9d8f7775e8
19:11333709 DOCK6 C>T	19	11333709	11333709	C	T	DOCK6	c.3029G>A	NM_020812.3	NP_065863.2:p.(Arg1010Gln)	NC_000019.9:g.11333709C>T	VUS	2 labs	9d9774ac5b
20:62290663 RTEL1 C>T	20	62290663	62290663	C	T	RTEL1	c.-93C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62290663C>T	(Likely) benign	2 labs	9d98461ca2
18:32443935 DTNA G>A	18	32443935	32443935	G	A	DTNA	c.1391G>A	NM_001198939.2	NP_001185868.1:p.(Arg464His)	NC_000018.9:g.32443935G>A	VUS	3 labs	9d9ab2aa1f
3:142188392 ATR T>C	3	142188392	142188392	T	C	ATR	c.6339A>G	NM_001184.3	NP_001175.2:p.(Val2113=)	NC_000003.11:g.142188392T>C	(Likely) benign	2 labs	9da2bba9ed
4:39246135 WDR19 G>A	4	39246135	39246135	G	A	WDR19	c.2608G>A	NM_025132.3	NP_079408.3:p.(Asp870Asn)	NC_000004.11:g.39246135G>A	VUS	2 labs	9da355e58e
11:792053 SLC25A22 G>A	11	792053	792053	G	A	SLC25A22	c.834C>T	NM_001191060.1	NP_001177989.1:p.(His278=)	NC_000011.9:g.792053G>A	(Likely) benign	2 labs	9da575f86a
13:37453762 SMAD9 A>G	13	37453762	37453762	A	G	SMAD9	c.65T>C	NM_001127217.2	NP_001120689.1:p.(Leu22Pro)	NC_000013.10:g.37453762A>G	VUS	2 labs	9daac5b0c6
4:79385746 FRAS1 A>C	4	79385746	79385746	A	C	FRAS1	c.7029+9A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79385746A>C	(Likely) benign	2 labs	9dab31ccc3
2:179567166 TTN T>A	2	179567166	179567166	T	A	TTN	c.30433+15A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179567166T>A	(Likely) benign	3 labs	9db1d8e2c0
5:150943061 FAT2 G>T	5	150943061	150943061	G	T	FAT2	c.3399C>A	NM_001447.3	NP_001438.1:p.(Asn1133Lys)	NC_000005.9:g.150943061G>T	(Likely) benign	2 labs	9db48dd882
22:31011674 TCN2 T>C	22	31011674	31011674	T	C	TCN2	c.759T>C	NM_001184726.1	NP_001171655.1:p.(Asp253=)	NC_000022.10:g.31011674T>C	(Likely) benign	2 labs	9db7355cf7
20:61463522 COL9A3 C>A	20	61463522	61463522	C	A	COL9A3	c.1304C>A	NM_001853.4	NP_001844.3:p.(Ala435Glu)	NC_000020.10:g.61463522C>A	(Likely) benign	4 labs	9dbc5133ff
12:24048932 SOX5 G>A	12	24048932	24048932	G	A	SOX5	c.26C>T	NM_152989.4	NP_694534.1:p.(Pro9Leu)	NC_000012.11:g.24048932G>A	(Likely) benign	2 labs	9dc1ccd03b
17:18057169 MYO15A G>A	17	18057169	18057169	G	A	MYO15A	c.8047G>A	NM_016239.4	NP_057323.3:p.(Gly2683Ser)	NC_000017.10:g.18057169G>A	VUS	2 labs	9ddc5fb2b8
17:33904914 PEX12 C>A	17	33904914	33904914	C	A	PEX12	c.126+1G>T	NM_000286.2	NP_000277.1:p.?	NC_000017.10:g.33904914C>A	(Likely) pathogenic	2 labs	9dd7389f45
15:23890732 MAGEL2 C>G	15	23890732	23890732	C	G	MAGEL2	c.2158G>C	NM_019066.5	NP_061939.3:p.(Glu720Gln)	NC_000015.9:g.23890732C>G	VUS	2 labs	9ddb51eee3
2:179452865 TTN T>C	2	179452865	179452865	T	C	TTN	c.63269A>G	NM_001267550.2	NP_001254479.2:p.(Tyr21090Cys)	NC_000002.11:g.179452865T>C	VUS	3 labs	9de61a0e61
4:39205259 WDR19 T>C	4	39205259	39205259	T	C	WDR19	c.523-3T>C	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39205259T>C	(Likely) benign	3 labs	9de4197279
17:36484433 GPR179 G>C	17	36484433	36484433	G	C	GPR179	c.5019C>G	NM_001004334.4	NP_001004334.3:p.(Thr1673=)	NC_000017.10:g.36484433G>C	(Likely) benign	2 labs	9ded32a672
12:6127795 VWF G>A	12	6127795	6127795	G	A	VWF	c.4789C>T	NM_000552.5	NP_000543.3:p.(Arg1597Trp)	NC_000012.11:g.6127795G>A	(Likely) pathogenic	3 labs	9dfd4afe9e
3:9970080 IL17RC C>T	3	9970080	9970080	C	T	IL17RC	c.1182C>T	NM_153461.3	NP_703191.1:p.(Pro394=)	NC_000003.11:g.9970080C>T	(Likely) benign	2 labs	9e0163612a
5:176639105 NSD1 T>C	5	176639105	176639105	T	C	NSD1	c.3705T>C	NM_022455.4	NP_071900.2:p.(Asn1235=)	NC_000005.9:g.176639105T>C	(Likely) benign	2 labs	9e02fe8e55
15:43895583 STRC G>A	15	43895583	43895583	G	A	STRC	c.4402C>T	NM_153700.2	NP_714544.1:p.(Arg1468Ter)	NC_000015.9:g.43895583G>A	(Likely) pathogenic	2 labs	9e07f5a83d
2:179590687 TTN G>T	2	179590687	179590687	G	T	TTN	c.20362C>A	NM_001267550.2	NP_001254479.2:p.(Pro6788Thr)	NC_000002.11:g.179590687G>T	VUS	3 labs	9e14a8e9f8
8:133882026 TG G>A	8	133882026	133882026	G	A	TG	c.229G>A	NM_003235.5	NP_003226.4:p.(Gly77Ser)	NC_000008.10:g.133882026G>A	(Likely) pathogenic	3 labs	9e0f6a7f20
13:23939330 SACS C>A	13	23939330	23939330	C	A	SACS	c.432G>T	NM_014363.5	NP_055178.3:p.(Trp144Cys)	NC_000013.10:g.23939330C>A	VUS	2 labs	9e1748018e
9:135779172 TSC1 G>A	9	135779172	135779172	G	A	TSC1	c.2074C>T	NM_000368.4	NP_000359.1:p.(Arg692Ter)	NC_000009.11:g.135779172G>A	(Likely) pathogenic	2 labs	9e25a0b1ac
21:44485527 CBS G>A	21	44485527	44485527	G	A	CBS	c.321C>T	NM_001321072.1	NP_001308001.1:p.(Asn107=)	NC_000021.8:g.44485527G>A	(Likely) benign	2 labs	9e28e5e98d
12:112888165 PTPN11 G>A	12	112888165	112888165	G	A	PTPN11	c.181G>A	NM_002834.3	NP_002825.3:p.(Asp61Asn)	NC_000012.11:g.112888165G>A	(Likely) pathogenic	2 labs	9e394cf1c2
10:48413661 GDF2 C>T	10	48413661	48413661	C	T	GDF2	c.1207G>A	NM_016204.3	NP_057288.1:p.(Val403Ile)	NC_000010.10:g.48413661C>T	(Likely) benign	2 labs	9e4af6c612
7:117232481 CFTR G>A	7	117232481	117232481	G	A	CFTR	c.2260G>A	NM_000492.4	NP_000483.3:p.(Val754Met)	NC_000007.13:g.117232481G>A	(Likely) benign	5 labs	9e54890eb0
3:132401637 NPHP3 A>G	3	132401637	132401637	A	G	NPHP3	c.3722T>C	NM_153240.4	NP_694972.3:p.(Leu1241Ser)	NC_000003.11:g.132401637A>G	VUS	2 labs	9e7874de70
17:29559848 NF1 A>G	17	29559848	29559848	A	G	NF1	c.3445A>G	NM_000267.3	NP_000258.1:p.(Met1149Val)	NC_000017.10:g.29559848A>G	(Likely) pathogenic	3 labs	9e78bc8cd9
7:158468330 NCAPG2 A>G	7	158468330	158468330	A	G	NCAPG2	c.1165T>C	NM_001281933.1	NP_001268862.1:p.(Tyr389His)	NC_000007.13:g.158468330A>G	(Likely) benign	2 labs	9e8bb4b4e6
10:69959345 MYPN GCTGGGA>G	10	69959345	69959352	GCTGGGA	G	MYPN	c.3493+15_3493+20del	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69959347_69959352del	(Likely) benign	3 labs	9ea0c5095e
18:13087097 CEP192 G>T	18	13087097	13087097	G	T	CEP192	c.5698G>T	NM_032142.4	NP_115518.3:p.(Val1900Leu)	NC_000018.9:g.13087097G>T	(Likely) benign	2 labs	9e99caaa65
16:2158286 PKD1 G>A	16	2158286	2158286	G	A	PKD1	c.6882C>T	NM_001009944.2	NP_001009944.2:p.(Leu2294=)	NC_000016.9:g.2158286G>A	(Likely) benign	2 labs	9ea12e86a2
17:59861668 BRIP1 A>C	17	59861668	59861668	A	C	BRIP1	c.1591T>G	NM_032043.2	NP_114432.2:p.(Phe531Val)	NC_000017.10:g.59861668A>C	VUS	3 labs	9ea206c705
3:46008820 FYCO1 C>T	3	46008820	46008820	C	T	FYCO1	c.2006G>A	NM_024513.3	NP_078789.2:p.(Ser669Asn)	NC_000003.11:g.46008820C>T	(Likely) benign	2 labs	9eacbc85f7
7:100224387 TFR2 C>T	7	100224387	100224387	C	T	TFR2	c.2135G>A	NM_003227.3	NP_003218.2:p.(Arg712Gln)	NC_000007.13:g.100224387C>T	VUS	2 labs	9eb590e685
2:27121488 DPYSL5 G>A	2	27121488	27121488	G	A	DPYSL5	c.121G>A	NM_020134.4	NP_064519.2:p.(Glu41Lys)	NC_000002.11:g.27121488G>A	VUS	2 labs	9ec623d245
X:70349284 MED12 G>A	X	70349284	70349284	G	A	MED12	c.3691+5G>A	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70349284G>A	VUS	2 labs	9ec7fb27f5
8:6272399 MCPH1 G>T	8	6272399	6272399	G	T	MCPH1	c.228G>T	NM_001172574.2	NP_001166045.2:p.(Val76=)	NC_000008.10:g.6272399G>T	(Likely) benign	3 labs	9edbbf1d1c
10:121436204 BAG3 C>T	10	121436204	121436204	C	T	BAG3	c.1138C>T	NM_004281.4	NP_004272.2:p.(Pro380Ser)	NC_000010.10:g.121436204C>T	(Likely) benign	4 labs	9edd940e15
13:52520525 ATP7B G>A	13	52520525	52520525	G	A	ATP7B	c.2955C>T	NM_000053.3	NP_000044.2:p.(Cys985=)	NC_000013.10:g.52520525G>A	(Likely) benign	2 labs	9ee1764d13
15:63336372 TPM1 C>T	15	63336372	63336372	C	T	TPM1	c.240+21C>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63336372C>T	(Likely) benign	2 labs	9ee49fdb6c
8:145700337 FOXH1 A>G	8	145700337	145700337	A	G	FOXH1	c.382T>C	NM_003923.2	NP_003914.1:p.(Cys128Arg)	NC_000008.10:g.145700337A>G	VUS	2 labs	9ee72083cb
3:4829732 ITPR1 A>G	3	4829732	4829732	A	G	ITPR1	c.6672A>G	NM_001168272.2	NP_001161744.1:p.(Thr2224=)	NC_000003.11:g.4829732A>G	(Likely) benign	2 labs	9eec47d5ac
14:75052587 LTBP2 G>A	14	75052587	75052587	G	A	LTBP2	c.800C>T	NM_000428.2	NP_000419.1:p.(Ser267Leu)	NC_000014.8:g.75052587G>A	(Likely) benign	2 labs	9ef2100d6f
X:22112220 PHEX A>G	X	22112220	22112220	A	G	PHEX	c.849+3A>G	NM_000444.5	NP_000435.3:p.?	NC_000023.10:g.22112220A>G	(Likely) benign	3 labs	9ef8126a4b
16:81819777 PLCG2 C>T	16	81819777	81819777	C	T	PLCG2	c.183C>T	NM_002661.3	NP_002652.2:p.(Ile61=)	NC_000016.9:g.81819777C>T	(Likely) benign	2 labs	9f05bab057
20:34025172 GDF5 C>CGTCCTGTACAGCGAGAGCAT	20	34025172	34025194	C	CGTCCTGTACAGCGAGAGCAT	GDF5	c.517_536dup	NM_000557.5	NP_000548.2:p.(Leu180CysfsTer20)	NC_000020.10:g.34025175_34025194dup	(Likely) pathogenic	2 labs	9f25cacf3f
12:21991086 ABCC9 G>A	12	21991086	21991086	G	A	ABCC9	c.3492C>T	NM_020297.2	NP_064693.2:p.(Asp1164=)	NC_000012.11:g.21991086G>A	(Likely) benign	2 labs	9f3ae49bfb
22:19902736 TXNRD2 C>G	22	19902736	19902736	C	G	TXNRD2	c.591+1G>C	NM_001282512.3	NP_001269441.1:p.?	NC_000022.10:g.19902736C>G	VUS	2 labs	9f3eccc579
19:13397420 CACNA1A G>A	19	13397420	13397420	G	A	CACNA1A	c.3462C>T	NM_023035.2	NP_075461.2:p.(Ser1154=)	NC_000019.9:g.13397420G>A	(Likely) benign	2 labs	9f3d2ddc18
7:44148572 AEBP1 CTGAG>C	7	44148572	44148582	CTGAG	C	AEBP1	c.1018+4_1018+7del	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44148579_44148582del	(Likely) benign	2 labs	9f3d039954
18:67857959 RTTN C>A	18	67857959	67857959	C	A	RTTN	c.1008-4G>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67857959C>A	(Likely) benign	2 labs	9f469b2900
14:32031331 NUBPL G>A	14	32031331	32031331	G	A	NUBPL	c.166G>A	NM_025152.3	NP_079428.2:p.(Gly56Arg)	NC_000014.8:g.32031331G>A	VUS	2 labs	9f49c3644c
1:94564500 ABCA4 G>C	1	94564500	94564500	G	C	ABCA4	c.618C>G	NM_000350.2	NP_000341.2:p.(Ser206Arg)	NC_000001.10:g.94564500G>C	VUS	2 labs	9f49d9426b
11:67810477 TCIRG1 C>T	11	67810477	67810477	C	T	TCIRG1				NC_000011.9:g.67810477C>T	(Likely) benign	2 labs	9f4b942692
11:6637605 TPP1 C>T	11	6637605	6637605	C	T	TPP1	c.1016G>A	NM_000391.3	NP_000382.3:p.(Arg339Gln)	NC_000011.9:g.6637605C>T	(Likely) pathogenic	3 labs	9f4f85cac8
X:2854866 ARSL C>T	X	2854866	2854866	C	T	ARSL	c.1403G>A	NM_001282628.1	NP_001269557.1:p.(Gly468Glu)	NC_000023.10:g.2854866C>T	VUS	2 labs	9f4fd12400
X:134988581 SAGE1 A>G	X	134988581	134988581	A	G	SAGE1	c.607A>G	NM_018666.2	NP_061136.2:p.(Thr203Ala)	NC_000023.10:g.134988581A>G	(Likely) benign	2 labs	9f58189bc2
6:33141673 COL11A2 C>T	6	33141673	33141673	C	T	COL11A2	c.2560G>A	NM_080680.2	NP_542411.2:p.(Ala854Thr)	NC_000006.11:g.33141673C>T	VUS	2 labs	9f61dbe4c8
16:29824600 PRRT2 G>A	16	29824600	29824600	G	A	PRRT2	c.225G>A	NM_001256443.1	NP_001243372.1:p.(Pro75=)	NC_000016.9:g.29824600G>A	(Likely) benign	2 labs	9f67d7ee18
11:65320359 LTBP3 A>T	11	65320359	65320359	A	T	LTBP3	c.1158T>A	NM_001130144.2	NP_001123616.1:p.(Ser386Arg)	NC_000011.9:g.65320359A>T	VUS	2 labs	9f6b7ff12d
16:1573546 IFT140 C>T	16	1573546	1573546	C	T	IFT140	c.3426G>A	NM_014714.4	NP_055529.2:p.(Ala1142=)	NC_000016.9:g.1573546C>T	(Likely) benign	2 labs	9f679eb1d2
10:55721637 PCDH15 G>A	10	55721637	55721637	G	A	PCDH15	c.2899C>T	NM_001142771.2	NP_001136243.1:p.(Arg967Cys)	NC_000010.10:g.55721637G>A	(Likely) benign	2 labs	9f7994cf8a
2:179587549 TTN T>A	2	179587549	179587549	T	A	TTN	c.22077A>T	NM_001267550.2	NP_001254479.2:p.(Gly7359=)	NC_000002.11:g.179587549T>A	(Likely) benign	3 labs	9f80b33e8e
21:47766650 PCNT G>A	21	47766650	47766650	G	A	PCNT	c.721-7G>A	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47766650G>A	(Likely) benign	2 labs	9f8e55ebbe
8:100147950 VPS13B A>T	8	100147950	100147950	A	T	VPS13B	c.1552A>T	NM_017890.4	NP_060360.3:p.(Thr518Ser)	NC_000008.10:g.100147950A>T	(Likely) benign	2 labs	9f8f3056a6
14:23889398 MYH7 C>T	14	23889398	23889398	C	T	MYH7	c.3382G>A	NM_000257.2	NP_000248.2:p.(Ala1128Thr)	NC_000014.8:g.23889398C>T	VUS	2 labs	9f9291349c
6:146755842 GRM1 C>A	6	146755842	146755842	C	A	GRM1	c.3495C>A	NM_001278064.2	NP_001264993.1:p.(Pro1165=)	NC_000006.11:g.146755842C>A	(Likely) benign	2 labs	9f9b7883bd
1:160095008 ATP1A2 G>A	1	160095008	160095008	G	A	ATP1A2				NC_000001.10:g.160095008G>A	VUS	2 labs	fbd241d9d6
5:140907261 DIAPH1 G>A	5	140907261	140907261	G	A	DIAPH1	c.3152C>T	NM_001314007.1	NP_001300936.1:p.(Ser1051Phe)	NC_000005.9:g.140907261G>A	(Likely) benign	2 labs	9fb3ce96ad
3:48508721 TREX1 G>A	3	48508721	48508721	G	A	TREX1	c.667G>A	NM_033629.6	NP_338599.1:p.(Ala223Thr)	NC_000003.11:g.48508721G>A	VUS	2 labs	9fb8702968
19:55449446 NLRP7 C>T	19	55449446	55449446	C	T	NLRP7	c.2095G>A	NM_001127255.1	NP_001120727.1:p.(Val699Ile)	NC_000019.9:g.55449446C>T	(Likely) benign	2 labs	9fc04027f8
7:21641218 DNAH11 G>A	7	21641218	21641218	G	A	DNAH11	c.3630G>A	NM_001277115.2	NP_001264044.1:p.(Gln1210=)	NC_000007.13:g.21641218G>A	(Likely) benign	2 labs	9fc916ad8d
7:21939698 DNAH11 G>C	7	21939698	21939698	G	C	DNAH11				NC_000007.13:g.21939698G>C	(Likely) benign	2 labs	9fc3b77e9b
X:130417208 IGSF1 T>C	X	130417208	130417208	T	C	IGSF1	c.698A>G	NM_001170961.1	NP_001164432.1:p.(His233Arg)	NC_000023.10:g.130417208T>C	(Likely) benign	2 labs	9fc8dca758
3:132221139 DNAJC13 C>T	3	132221139	132221139	C	T	DNAJC13	c.4543C>T	NM_015268.4	NP_056083.3:p.(Pro1515Ser)	NC_000003.11:g.132221139C>T	(Likely) benign	2 labs	9fc4f71c83
2:32460512 NLRC4 A>G	2	32460512	32460512	A	G	NLRC4	c.2740T>C	NM_021209.4	NP_067032.3:p.(Leu914=)	NC_000002.11:g.32460512A>G	(Likely) benign	2 labs	9fcde47b90
19:42861084 MEGF8 G>A	19	42861084	42861084	G	A	MEGF8	c.4781G>A	NM_001271938.2	NP_001258867.1:p.(Arg1594His)	NC_000019.9:g.42861084G>A	(Likely) benign	2 labs	9fcedfb634
5:56152416 MAP3K1 C>A	5	56152416	56152416	C	A	MAP3K1	c.483-11C>A	NM_005921.2	NP_005912.1:p.?	NC_000005.9:g.56152416C>A	(Likely) benign	2 labs	9fdb719d7f
20:32369114 ZNF341 A>G	20	32369114	32369114	A	G	ZNF341	c.1640A>G	NM_001282933.1	NP_001269862.1:p.(Asn547Ser)	NC_000020.10:g.32369114A>G	(Likely) benign	2 labs	9fdb1a292b
11:134126505 ACAD8 G>A	11	134126505	134126505	G	A	ACAD8	c.173G>A	NM_014384.2	NP_055199.1:p.(Arg58Gln)	NC_000011.9:g.134126505G>A	(Likely) benign	2 labs	9fdb3d1370
22:36678779 MYH9 C>T	22	36678779	36678779	C	T	MYH9	c.5818G>A	NM_002473.5	NP_002464.1:p.(Gly1940Arg)	NC_000022.10:g.36678779C>T	(Likely) benign	2 labs	9fe8c43709
17:36492019 GPR179 C>G	17	36492019	36492019	C	G	GPR179	c.1236G>C	NM_001004334.4	NP_001004334.3:p.(Trp412Cys)	NC_000017.10:g.36492019C>G	VUS	2 labs	9feb3978fc
14:23862710 MYH6 C>T	14	23862710	23862710	C	T	MYH6	c.2946G>A	NM_002471.4	NP_002462.2:p.(Glu982=)	NC_000014.8:g.23862710C>T	(Likely) benign	5 labs	9ff15a9264
8:90958422 NBN T>C	8	90958422	90958422	T	C	NBN	c.2016A>G	NM_002485.5	NP_002476.2:p.(Pro672=)	NC_000008.10:g.90958422T>C	(Likely) benign	3 labs	9ff2bcedfa
18:21511172 LAMA3 G>T	18	21511172	21511172	G	T	LAMA3	c.8576+7G>T	NM_198129.2	NP_937762.2:p.?	NC_000018.9:g.21511172G>T	(Likely) benign	2 labs	9ff5fc1fcb
3:127779356 SEC61A1 T>C	3	127779356	127779356	T	C	SEC61A1	c.468T>C	NM_013336.3	NP_037468.1:p.(Phe156=)	NC_000003.11:g.127779356T>C	(Likely) benign	2 labs	9ff8a86a87
6:41126524 TREM2 A>G	6	41126524	41126524	A	G	TREM2	c.677-6T>C	NM_018965.3	NP_061838.1:p.?	NC_000006.11:g.41126524A>G	VUS	2 labs	a003b4937b
4:151829580 LRBA T>C	4	151829580	151829580	T	C	LRBA	c.1399A>G	NM_001199282.2	NP_001186211.2:p.(Met467Val)	NC_000004.11:g.151829580T>C	(Likely) benign	4 labs	a0187419f2
16:2135341 TSC2 G>A	16	2135341	2135341	G	A	TSC2	c.4662+18G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135341G>A	(Likely) benign	2 labs	a021458ed5
16:57965773 CNGB1 G>A	16	57965773	57965773	G	A	CNGB1	c.1382C>T	NM_001297.5	NP_001288.3:p.(Thr461Met)	NC_000016.9:g.57965773G>A	(Likely) benign	2 labs	a01a90ca02
7:70250967 AUTS2 A>C	7	70250967	70250967	A	C	AUTS2	c.2179A>C	NM_001127231.2	NP_001120703.1:p.(Thr727Pro)	NC_000007.13:g.70250967A>C	(Likely) benign	2 labs	a022999d2b
7:69364347 AUTS2 C>G	7	69364347	69364347	C	G	AUTS2	c.385C>G	NM_001127231.2	NP_001120703.1:p.(Leu129Val)	NC_000007.13:g.69364347C>G	(Likely) benign	2 labs	a02a831493
3:43607136 ANO10 T>C	3	43607136	43607136	T	C	ANO10	c.1293+9A>G	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607136T>C	(Likely) benign	3 labs	a02c412d73
1:94544276 ABCA4 G>A	1	94544276	94544276	G	A	ABCA4	c.1240-14C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94544276G>A	(Likely) benign	3 labs	a0350ec6f4
12:110034347 MVK G>A	12	110034347	110034347	G	A	MVK	c.1156G>A	NM_000431.2	NP_000422.1:p.(Asp386Asn)	NC_000012.11:g.110034347G>A	VUS	2 labs	a02edaad53
16:1270350 CACNA1H G>A	16	1270350	1270350	G	A	CACNA1H	c.6418G>A	NM_021098.2	NP_066921.2:p.(Ala2140Thr)	NC_000016.9:g.1270350G>A	(Likely) benign	3 labs	a031de0dc7
X:71802375 PHKA1 C>T	X	71802375	71802375	C	T	PHKA1	c.3371G>A	NM_002637.3	NP_002628.2:p.(Arg1124His)	NC_000023.10:g.71802375C>T	VUS	2 labs	a036c6c7c0
7:153750046 DPP6 G>T	7	153750046	153750046	G	T	DPP6	c.141G>T	NM_130797.4	NP_570629.2:p.(Arg47=)	NC_000007.13:g.153750046G>T	(Likely) benign	2 labs	a0413b1edb
11:117282612 CEP164 G>A	11	117282612	117282612	G	A	CEP164	c.4265G>A	NM_014956.5	NP_055771.4:p.(Arg1422His)	NC_000011.9:g.117282612G>A	(Likely) benign	2 labs	a03f729a47
8:144992912 PLEC C>T	8	144992912	144992912	C	T	PLEC	c.11488G>A	NM_201380.3	NP_958782.1:p.(Ala3830Thr)	NC_000008.10:g.144992912C>T	VUS	3 labs	a043b83814
X:74649819 ZDHHC15 C>T	X	74649819	74649819	C	T	ZDHHC15	c.450-4G>A	NM_144969.2	NP_659406.1:p.?	NC_000023.10:g.74649819C>T	(Likely) benign	2 labs	a04b4d7ba5
5:13794171 DNAH5 T>C	5	13794171	13794171	T	C	DNAH5	c.7888-4A>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13794171T>C	(Likely) benign	2 labs	a05d98ccaa
3:188478019 LPP G>A	3	188478019	188478019	G	A	LPP	c.1359G>A	NM_005578.4	NP_005569.1:p.(Gly453=)	NC_000003.11:g.188478019G>A	(Likely) benign	2 labs	a062f9059e
17:61554500 ACE G>C	17	61554500	61554500	G	C	ACE	c.45G>C	NM_000789.3	NP_000780.1:p.(Pro15=)	NC_000017.10:g.61554500G>C	(Likely) benign	2 labs	a06514ca1d
12:49421834 KMT2D G>A	12	49421834	49421834	G	A	KMT2D	c.14473C>T	NM_003482.4	NP_003473.3:p.(Arg4825Trp)	NC_000012.11:g.49421834G>A	(Likely) benign	3 labs	a06cc023e4
2:179647803 TTN A>G	2	179647803	179647803	A	G	TTN	c.2842-12T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179647803A>G	(Likely) benign	2 labs	a06ca6ad00
3:52485342 TNNC1 T>G	3	52485342	52485342	T	G	TNNC1	c.455-20A>C	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52485342T>G	(Likely) benign	2 labs	a073ae1e38
9:123291036 CDK5RAP2 C>G	9	123291036	123291036	C	G	CDK5RAP2	c.865G>C	NM_018249.6	NP_060719.4:p.(Glu289Gln)	NC_000009.11:g.123291036C>G	(Likely) benign	3 labs	a07dd5e361
20:62293273 RTEL1 C>T	20	62293273	62293273	C	T	RTEL1	c.372C>T	NM_001283009.1	NP_001269938.1:p.(Asn124=)	NC_000020.10:g.62293273C>T	(Likely) benign	2 labs	a089892dd5
7:114282635 FOXP2 A>G	7	114282635	114282635	A	G	FOXP2	c.1021A>G	NM_148898.3	NP_683696.2:p.(Ile341Val)	NC_000007.13:g.114282635A>G	VUS	2 labs	a097f79458
7:75615552 POR G>A	7	75615552	75615552	G	A	POR	c.1891G>A	NM_001367562.1	NP_001354491.1:p.(Val631Ile)	NC_000007.13:g.75615552G>A	(Likely) benign	2 labs	a09c5a6e37
17:17700788 RAI1 A>G	17	17700788	17700788	A	G	RAI1	c.4526A>G	NM_030665.3	NP_109590.3:p.(Gln1509Arg)	NC_000017.10:g.17700788A>G	(Likely) benign	2 labs	a0a546a95a
11:118377353 KMT2A A>T	11	118377353	118377353	A	T	KMT2A	c.10746A>T	NM_001197104.1	NP_001184033.1:p.(Ser3582=)	NC_000011.9:g.118377353A>T	(Likely) benign	2 labs	a0a6a994cf
9:120476694 TLR4 G>A	9	120476694	120476694	G	A	TLR4	c.2168G>A	NM_003266.3	NP_003257.1:p.(Arg723His)	NC_000009.11:g.120476694G>A	(Likely) benign	2 labs	a0a719b522
19:18279665 PIK3R2 C>T	19	18279665	18279665	C	T	PIK3R2	c.1938C>T	NM_005027.3	NP_005018.1:p.(Ile646=)	NC_000019.9:g.18279665C>T	(Likely) benign	2 labs	a0a8189ad3
12:88525014 CEP290 A>T	12	88525014	88525014	A	T	CEP290	c.442-19T>A	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88525014A>T	(Likely) benign	2 labs	a0ad0eaee2
22:38120041 TRIOBP G>A	22	38120041	38120041	G	A	TRIOBP	c.1478G>A	NM_001039141.3	NP_001034230.1:p.(Ser493Asn)	NC_000022.10:g.38120041G>A	(Likely) benign	2 labs	a0b740c800
4:79295319 FRAS1 A>C	4	79295319	79295319	A	C	FRAS1	c.3065A>C	NM_025074.7	NP_079350.5:p.(Lys1022Thr)	NC_000004.11:g.79295319A>C	(Likely) benign	3 labs	a0b4fe04b2
4:88583774 DMP1 C>A	4	88583774	88583774	C	A	DMP1	c.844C>A	NM_004407.3	NP_004398.1:p.(Leu282Ile)	NC_000004.11:g.88583774C>A	(Likely) benign	2 labs	a0b620c225
2:179482994 TTN G>A	2	179482994	179482994	G	A	TTN	c.47191C>T	NM_001267550.2	NP_001254479.2:p.(Arg15731Cys)	NC_000002.11:g.179482994G>A	(Likely) benign	6 labs	a0b8726fdf
2:73675690 ALMS1 A>G	2	73675690	73675690	A	G	ALMS1	c.2039A>G	NM_015120.4	NP_055935.4:p.(Tyr680Cys)	NC_000002.11:g.73675690A>G	(Likely) benign	5 labs	a0beb6e3d4
17:10541584 MYH3 C>T	17	10541584	10541584	C	T	MYH3	c.3505G>A	NM_002470.3	NP_002461.2:p.(Glu1169Lys)	NC_000017.10:g.10541584C>T	VUS	2 labs	a0bfd50af4
19:36594659 WDR62 A>T	19	36594659	36594659	A	T	WDR62	c.3929A>T	NM_001083961.2	NP_001077430.1:p.(Gln1310Leu)	NC_000019.9:g.36594659A>T	(Likely) benign	3 labs	a0c494e171
7:42004736 GLI3 A>C	7	42004736	42004736	A	C	GLI3	c.3935T>G	NM_000168.5	NP_000159.3:p.(Met1312Arg)	NC_000007.13:g.42004736A>C	(Likely) benign	3 labs	a0c5af3fad
1:19545893 EMC1 G>A	1	19545893	19545893	G	A	EMC1	c.2886C>T	NM_015047.3	NP_055862.1:p.(Tyr962=)	NC_000001.10:g.19545893G>A	(Likely) benign	2 labs	a0c8b8504b
3:14199852 XPC T>G	3	14199852	14199852	T	G	XPC	c.1531A>C	NM_004628.5	NP_004619.3:p.(Lys511Gln)	NC_000003.11:g.14199852T>G	VUS	2 labs	a0d0a5bc0d
2:179642425 TTN G>A	2	179642425	179642425	G	A	TTN	c.4480+6C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179642425G>A	(Likely) benign	4 labs	a0d8c1d306
14:23900998 MYH7 C>T	14	23900998	23900998	C	T	MYH7	c.611G>A	NM_000257.2	NP_000248.2:p.(Arg204His)	NC_000014.8:g.23900998C>T	VUS	2 labs	a0d90996bb
9:133901819 LAMC3 C>A	9	133901819	133901819	C	A	LAMC3	c.521C>A	NM_006059.4	NP_006050.3:p.(Pro174His)	NC_000009.11:g.133901819C>A	(Likely) benign	2 labs	a0dd951a4c
16:1638000 IFT140 C>G	16	1638000	1638000	C	G	IFT140	c.836G>C	NM_014714.3	NP_055529.2:p.(Arg279Pro)	NC_000016.9:g.1638000C>G	(Likely) benign	3 labs	a0e226dc18
2:217311884 SMARCAL1 A>G	2	217311884	217311884	A	G	SMARCAL1	c.1851+3A>G	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217311884A>G	(Likely) benign	2 labs	a0e44ba715
9:137582793 COL5A1 C>T	9	137582793	137582793	C	T	COL5A1	c.145C>T	NM_000093.4	NP_000084.3:p.(His49Tyr)	NC_000009.11:g.137582793C>T	VUS	2 labs	a0e49a8285
2:179435290 TTN G>T	2	179435290	179435290	G	T	TTN	c.75569C>A	NM_001267550.1	NP_001254479.1:p.(Ala25190Glu)	NC_000002.11:g.179435290G>T	VUS	2 labs	a0eff308fb
16:74760166 FA2H G>T	16	74760166	74760166	G	T	FA2H	c.570C>A	NM_024306.4	NP_077282.3:p.(Thr190=)	NC_000016.9:g.74760166G>T	(Likely) benign	2 labs	a0f0c7e07e
8:118849346 EXT1 C>T	8	118849346	118849346	C	T	EXT1	c.1056+1G>A	NM_000127.2	NP_000118.2:p.?	NC_000008.10:g.118849346C>T	(Likely) pathogenic	2 labs	a0fb9ae1a4
8:144997311 PLEC C>T	8	144997311	144997311	C	T	PLEC	c.7197G>A	NM_201380.3	NP_958782.1:p.(Thr2399=)	NC_000008.10:g.144997311C>T	(Likely) benign	2 labs	a100121ad8
X:69500654 ARR3 C>T	X	69500654	69500654	C	T	ARR3	c.1052C>T	NM_004312.2	NP_004303.2:p.(Pro351Leu)	NC_000023.10:g.69500654C>T	VUS	2 labs	a1041ce2ee
21:46917558 COL18A1 G>GC	21	46917558	46917565	G	GC	COL18A1	c.2673dup	NM_001379500.1	NP_001366429.1:p.(Gly892ArgfsTer9)	NC_000021.8:g.46917565dup	(Likely) pathogenic	3 labs	a10467ba1f
2:179458769 TTN G>A	2	179458769	179458769	G	A	TTN	c.58351C>T	NM_001267550.2	NP_001254479.2:p.(Arg19451Cys)	NC_000002.11:g.179458769G>A	VUS	2 labs	a118d1cfad
3:148895647 CP C>T	3	148895647	148895647	C	T	CP	c.2998G>A	NM_000096.3	NP_000087.1:p.(Gly1000Ser)	NC_000003.11:g.148895647C>T	VUS	2 labs	a111d80240
7:6013013 PMS2 C>G	7	6013013	6013013	C	G	PMS2	c.*17G>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6013013C>G	(Likely) benign	4 labs	a125d9dcaf
5:177580649 NHP2 T>A	5	177580649	177580649	T	A	NHP2	c.160+10A>T	NM_017838.3	NP_060308.1:p.?	NC_000005.9:g.177580649T>A	(Likely) benign	2 labs	a1288635e0
1:237829823 RYR2 C>T	1	237829823	237829823	C	T	RYR2	c.8448C>T	NM_001035.3	NP_001026.2:p.(Asp2816=)	NC_000001.10:g.237829823C>T	(Likely) benign	4 labs	a129770366
11:113266863 ANKK1 T>C	11	113266863	113266863	T	C	ANKK1	c.757T>C	NM_178510.1	NP_848605.1:p.(Trp253Arg)	NC_000011.9:g.113266863T>C	(Likely) benign	2 labs	a12a264b7c
X:50341377 SHROOM4 C>A	X	50341377	50341377	C	A	SHROOM4	c.4101G>T	NM_020717.3	NP_065768.2:p.(Leu1367Phe)	NC_000023.10:g.50341377C>A	(Likely) benign	2 labs	a12b4d00ad
4:184605293 TRAPPC11 A>G	4	184605293	184605293	A	G	TRAPPC11	c.1288-5A>G	NM_021942.5	NP_068761.4:p.?	NC_000004.11:g.184605293A>G	(Likely) benign	2 labs	a13a3bf1b0
5:112174792 APC TGAAGA>T	5	112174792	112174800	TGAAGA	T	APC	c.3505_3509del	NM_000038.6	NP_000029.2:p.(Glu1169ThrfsTer8)	NC_000005.9:g.112174796_112174800del	(Likely) pathogenic	2 labs	a142e303d4
6:51637561 PKHD1 T>C	6	51637561	51637561	T	C	PKHD1	c.8581A>G	NM_138694.3	NP_619639.3:p.(Ser2861Gly)	NC_000006.11:g.51637561T>C	(Likely) benign	3 labs	a15210c89e
5:89979698 ADGRV1 C>T	5	89979698	89979698	C	T	ADGRV1	c.5960C>T	NM_032119.4	NP_115495.3:p.(Pro1987Leu)	NC_000005.9:g.89979698C>T	(Likely) benign	2 labs	a1525c5430
7:23180458 KLHL7 G>A	7	23180458	23180458	G	A	KLHL7	c.369G>A	NM_018846.5	NP_061334.4:p.(Gln123=)	NC_000007.13:g.23180458G>A	(Likely) benign	2 labs	a157dad27d
6:139694511 CITED2 TGCTGCTGCCCGCGCCGCCGCCCGA>T	6	139694511	139694544	TGCTGCTGCCCGCGCCGCCGCCCGA	T	CITED2	c.547_570del	NM_006079.5	NP_006070.2:p.(Ser183_Ser190del)	NC_000006.11:g.139694521_139694544del	VUS	3 labs	a164a17761
6:152680581 SYNE1 C>T	6	152680581	152680581	C	T	SYNE1	c.10333G>A	NM_033071.4	NP_149062.2:p.(Glu3445Lys)	NC_000006.11:g.152680581C>T	VUS	3 labs	a171fe2040
1:92944314 GFI1 C>CAG	1	92944314	92944351	C	CAG	GFI1	c.925-6_925-5dup	NM_001127215.3	NP_001120687.1:p.?	NC_000001.10:g.92944350_92944351dup	(Likely) benign	3 labs	a17c07daba
17:76548775 DNAH17 G>A	17	76548775	76548775	G	A	DNAH17	c.2287+4C>T	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76548775G>A	(Likely) benign	2 labs	a17890ef4e
14:90429858 TDP1 G>A	14	90429858	90429858	G	A	TDP1	c.400G>A	NM_018319.4	NP_060789.2:p.(Ala134Thr)	NC_000014.8:g.90429858G>A	(Likely) benign	2 labs	a178e663f9
13:32900279 BRCA2 A>G	13	32900279	32900279	A	G	BRCA2	c.467A>G	NM_000059.3	NP_000050.2:p.(Asp156Gly)	NC_000013.10:g.32900279A>G	VUS	2 labs	a17e508ed7
1:114401704 PTPN22 T>C	1	114401704	114401704	T	C	PTPN22	c.197-4A>G	NM_015967.7	NP_057051.3:p.?	NC_000001.10:g.114401704T>C	(Likely) benign	4 labs	a191c8cc37
7:75695693 MDH2 A>C	7	75695693	75695693	A	C	MDH2	c.982A>C	NM_005918.3	NP_005909.2:p.(Lys328Gln)	NC_000007.13:g.75695693A>C	(Likely) benign	3 labs	a195ad03ee
6:152485345 SYNE1 C>T	6	152485345	152485345	C	T	SYNE1	c.23743G>A	NM_182961.3	NP_892006.3:p.(Asp7915Asn)	NC_000006.11:g.152485345C>T	(Likely) benign	2 labs	a19894c5b5
1:103354472 COL11A1 T>C	1	103354472	103354472	T	C	COL11A1	c.4504A>G	NM_080629.3	NP_542196.2:p.(Ile1502Val)	NC_000001.10:g.103354472T>C	(Likely) benign	2 labs	a18dbe522b
17:29559158 NF1 G>T	17	29559158	29559158	G	T	NF1	c.3265G>T	NM_000267.3	NP_000258.1:p.(Glu1089Ter)	NC_000017.10:g.29559158G>T	(Likely) pathogenic	2 labs	a19a1881bd
11:47360854 MYBPC3 C>T	11	47360854	47360854	C	T	MYBPC3	c.2148+21G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360854C>T	(Likely) benign	2 labs	a19befbc4b
22:45681971 UPK3A G>A	22	45681971	45681971	G	A	UPK3A	c.202G>A	NM_006953.3	NP_008884.1:p.(Asp68Asn)	NC_000022.10:g.45681971G>A	(Likely) benign	2 labs	a1b867305b
1:176563772 PAPPA2 C>T	1	176563772	176563772	C	T	PAPPA2	c.1032C>T	NM_020318.2	NP_064714.2:p.(Thr344=)	NC_000001.10:g.176563772C>T	(Likely) benign	2 labs	a1b9acb06c
1:216172380 USH2A A>G	1	216172380	216172380	A	G	USH2A	c.6506T>C	NM_206933.4	NP_996816.3:p.(Ile2169Thr)	NC_000001.10:g.216172380A>G	(Likely) benign	3 labs	a1bb9c4c35
11:67817250 TCIRG1 C>T	11	67817250	67817250	C	T	TCIRG1				NC_000011.9:g.67817250C>T	(Likely) pathogenic	2 labs	a1c5f8c067
3:180378402 CCDC39 G>C	3	180378402	180378402	G	C	CCDC39	c.472C>G	NM_181426.2	NP_852091.1:p.(Leu158Val)	NC_000003.11:g.180378402G>C	(Likely) benign	2 labs	a1cbe5a4c0
X:106893173 PRPS1 A>G	X	106893173	106893173	A	G	PRPS1	c.868A>G	NM_002764.3	NP_002755.1:p.(Ile290Val)	NC_000023.10:g.106893173A>G	VUS	2 labs	a1cdfbefa4
13:39266590 FREM2 C>T	13	39266590	39266590	C	T	FREM2	c.5109C>T	NM_207361.5	NP_997244.4:p.(Ala1703=)	NC_000013.10:g.39266590C>T	(Likely) benign	2 labs	a1d510a282
1:215901510 USH2A C>T	1	215901510	215901510	C	T	USH2A	c.11928G>A	NM_206933.2	NP_996816.2:p.(Thr3976=)	NC_000001.10:g.215901510C>T	(Likely) benign	2 labs	a1d8a346dc
X:53321109 IQSEC2 G>A	X	53321109	53321109	G	A	IQSEC2	c.708-3C>T	NM_001111125.2	NP_001104595.1:p.?	NC_000023.10:g.53321109G>A	(Likely) benign	2 labs	a1d8a81595
1:78401624 NEXN A>C	1	78401624	78401624	A	C	NEXN	c.1368A>C	NM_144573.3	NP_653174.3:p.(Gly456=)	NC_000001.10:g.78401624A>C	(Likely) benign	2 labs	a1da7b1f92
X:62857950 ARHGEF9 T>A	X	62857950	62857950	T	A	ARHGEF9	c.1509A>T	NM_015185.2	NP_056000.1:p.(Pro503=)	NC_000023.10:g.62857950T>A	(Likely) benign	2 labs	a1ddc153c7
7:21631070 DNAH11 G>A	7	21631070	21631070	G	A	DNAH11				NC_000007.13:g.21631070G>A	VUS	2 labs	a1e3857847
2:179402594 TTN A>G	2	179402594	179402594	A	G	TTN	c.99340T>C	NM_001267550.2	NP_001254479.2:p.(Leu33114=)	NC_000002.11:g.179402594A>G	(Likely) benign	2 labs	a1e7a1e5b4
X:37668854 CYBB A>C	X	37668854	37668854	A	C	CYBB	c.1496A>C	NM_000397.4	NP_000388.2:p.(Lys499Thr)	NC_000023.10:g.37668854A>C	VUS	2 labs	a1e9dffcb8
5:89923441 ADGRV1 A>G	5	89923441	89923441	A	G	ADGRV1	c.1086A>G	NM_032119.4	NP_115495.3:p.(Leu362=)	NC_000005.9:g.89923441A>G	(Likely) benign	3 labs	a1f3b05c75
14:23867941 MYH6 A>G	14	23867941	23867941	A	G	MYH6	c.1887T>C	NM_002471.3	NP_002462.2:p.(Asp629=)	NC_000014.8:g.23867941A>G	(Likely) benign	2 labs	a2045cd0ba
15:89861826 POLG T>C	15	89861826	89861826	T	C	POLG	c.3428A>G	NM_002693.3	NP_002684.1:p.(Glu1143Gly)	NC_000015.9:g.89861826T>C	(Likely) benign	4 labs	a20a8674cc
13:23929532 SACS G>T	13	23929532	23929532	G	T	SACS	c.1219C>A	NM_014363.5	NP_055178.3:p.(Leu407Ile)	NC_000013.10:g.23929532G>T	VUS	2 labs	a20dea4ea4
9:14812907 FREM1 G>A	9	14812907	14812907	G	A	FREM1	c.2796C>T	NM_144966.5	NP_659403.4:p.(Arg932=)	NC_000009.11:g.14812907G>A	(Likely) benign	2 labs	a22076d6b4
17:26851070 FOXN1 T>C	17	26851070	26851070	T	C	FOXN1	c.83T>C	NM_003593.2	NP_003584.2:p.(Met28Thr)	NC_000017.10:g.26851070T>C	VUS	2 labs	a221036f82
X:152825414 ATP2B3 G>T	X	152825414	152825414	G	T	ATP2B3	c.2839+14G>T	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152825414G>T	(Likely) benign	2 labs	a2267eb846
X:140996339 MAGEC1 A>C	X	140996339	140996339	A	C	MAGEC1	c.3149A>C	NM_005462.4	NP_005453.2:p.(Gln1050Pro)	NC_000023.10:g.140996339A>C	(Likely) benign	2 labs	a227ce389b
4:102117241 PPP3CA C>A	4	102117241	102117241	C	A	PPP3CA	c.91G>T	NM_000944.5	NP_000935.1:p.(Ala31Ser)	NC_000004.11:g.102117241C>A	(Likely) benign	3 labs	a2298633ed
3:53774360 CACNA1D G>C	3	53774360	53774360	G	C	CACNA1D	c.2865G>C	NM_000720.4	NP_000711.1:p.(Leu955=)	NC_000003.11:g.53774360G>C	(Likely) benign	3 labs	a22252602a
6:129786384 LAMA2 A>G	6	129786384	129786384	A	G	LAMA2	c.7250A>G	NM_000426.3	NP_000417.2:p.(His2417Arg)	NC_000006.11:g.129786384A>G	VUS	2 labs	a22f87d1a8
1:17323506 ATP13A2 G>A	1	17323506	17323506	G	A	ATP13A2	c.1180+9C>T	NM_001141973.2	NP_001135445.1:p.?	NC_000001.10:g.17323506G>A	(Likely) benign	2 labs	a232b78eb4
3:132409455 NPHP3 C>T	3	132409455	132409455	C	T	NPHP3	c.2610G>A	NM_153240.4	NP_694972.3:p.(Pro870=)	NC_000003.11:g.132409455C>T	(Likely) benign	2 labs	a236c29a8d
17:78064174 CCDC40 C>A	17	78064174	78064174	C	A	CCDC40	c.3069C>A	NM_001243342.1	NP_001230271.1:p.(His1023Gln)	NC_000017.10:g.78064174C>A	(Likely) benign	2 labs	a23c8f6068
10:88476066 LDB3 T>A	10	88476066	88476066	T	A	LDB3	c.1247-18T>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88476066T>A	(Likely) benign	2 labs	a2370f5546
11:47372087 MYBPC3 G>A	11	47372087	47372087	G	A	MYBPC3	c.372C>T	NM_000256.3	NP_000247.2:p.(Ala124=)	NC_000011.9:g.47372087G>A	(Likely) benign	2 labs	a2376144e6
8:12947985 DLC1 C>T	8	12947985	12947985	C	T	DLC1	c.3856-6G>A	NM_182643.2	NP_872584.2:p.?	NC_000008.10:g.12947985C>T	(Likely) benign	2 labs	a23f120f47
2:232220601 ARMC9 A>G	2	232220601	232220601	A	G	ARMC9	c.2086A>G	NM_001271466.3	NP_001258395.1:p.(Arg696Gly)	NC_000002.11:g.232220601A>G	(Likely) benign	2 labs	a23fd00b27
14:23901840 MYH7 C>A	14	23901840	23901840	C	A	MYH7	c.502+8G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23901840C>A	(Likely) benign	2 labs	a24587dba7
16:89825107 FANCA G>C	16	89825107	89825107	G	C	FANCA	c.2859C>G	NM_001286167.2	NP_001273096.1:p.(Asp953Glu)	NC_000016.9:g.89825107G>C	(Likely) benign	2 labs	a247ae5740
11:111908137 DLAT G>A	11	111908137	111908137	G	A	DLAT	c.928G>A	NM_001931.5	NP_001922.2:p.(Glu310Lys)	NC_000011.9:g.111908137G>A	(Likely) benign	2 labs	a24935ecb0
7:92085828 GATAD1 G>A	7	92085828	92085828	G	A	GATAD1	c.762G>A	NM_021167.5	NP_066990.3:p.(Gly254=)	NC_000007.13:g.92085828G>A	(Likely) benign	4 labs	a24cec152c
15:89861871 POLG C>T	15	89861871	89861871	C	T	POLG	c.3383G>A	NM_002693.2	NP_002684.1:p.(Arg1128His)	NC_000015.9:g.89861871C>T	VUS	2 labs	a25020dbb0
7:148106477 CNTNAP2 C>CTG	7	148106477	148106479	C	CTG	CNTNAP2	c.3716-5_3716-4insGT	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148106478_148106479insGT	(Likely) benign	3 labs	a25dce1609
19:3977807 EEF2 C>T	19	3977807	3977807	C	T	EEF2	c.2067+10G>A	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3977807C>T	(Likely) benign	2 labs	a25d7c76e9
1:78395190 NEXN G>A	1	78395190	78395190	G	A	NEXN	c.1053+1G>A	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78395190G>A	VUS	3 labs	a25e283630
9:135779815 TSC1 TC>T	9	135779815	135779816	TC	T	TSC1	c.2023del	NM_000368.5	NP_000359.1:p.(Asp675ThrfsTer49)	NC_000009.11:g.135779816del	(Likely) pathogenic	2 labs	a2685fc77e
17:59557234 TBX4 C>T	17	59557234	59557234	C	T	TBX4	c.703-8C>T	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59557234C>T	(Likely) benign	2 labs	a2617abd94
1:149762961 FCGR1A T>C	1	149762961	149762961	T	C	FCGR1A	c.1013T>C	NM_000566.3	NP_000557.1:p.(Ile338Thr)	NC_000001.10:g.149762961T>C	(Likely) benign	2 labs	a26842aa71
10:43596179 RET G>A	10	43596179	43596179	G	A	RET	c.337+9G>A	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43596179G>A	(Likely) benign	3 labs	a26bff3b3e
12:112926851 PTPN11 C>A	12	112926851	112926851	C	A	PTPN11	c.1471C>A	NM_002834.3	NP_002825.3:p.(Pro491Thr)	NC_000012.11:g.112926851C>A	(Likely) pathogenic	2 labs	a2711b3b7e
3:53222882 PRKCD G>A	3	53222882	53222882	G	A	PRKCD	c.1554+8G>A	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53222882G>A	(Likely) benign	2 labs	a275f20f21
9:94118202 AUH T>C	9	94118202	94118202	T	C	AUH	c.381A>G	NM_001698.2	NP_001689.1:p.(Ile127Met)	NC_000009.11:g.94118202T>C	VUS	2 labs	a276769d9f
8:100865682 VPS13B G>T	8	100865682	100865682	G	T	VPS13B	c.10140G>T	NM_017890.4	NP_060360.3:p.(Ala3380=)	NC_000008.10:g.100865682G>T	(Likely) benign	3 labs	a276cbfa9f
13:29236653 POMP G>A	13	29236653	29236653	G	A	POMP	c.101+9G>A	NM_015932.5	NP_057016.1:p.?	NC_000013.10:g.29236653G>A	(Likely) benign	2 labs	a27968253f
21:47831802 PCNT C>T	21	47831802	47831802	C	T	PCNT	c.5815C>T	NM_006031.5	NP_006022.3:p.(Arg1939Trp)	NC_000021.8:g.47831802C>T	(Likely) benign	2 labs	a27c44ed2a
X:73745662 SLC16A2 C>A	X	73745662	73745662	C	A	SLC16A2	c.1104C>A	NM_006517.5	NP_006508.2:p.(Gly368=)	NC_000023.10:g.73745662C>A	(Likely) benign	2 labs	a2818952e8
19:860686 CFD C>A	19	860686	860686	C	A	CFD	c.125C>A	NM_001928.2	NP_001919.2:p.(Ser42Ter)	NC_000019.9:g.860686C>A	(Likely) pathogenic	2 labs	a28cfbbf81
5:176721119 NSD1 G>A	5	176721119	176721119	G	A	NSD1	c.6750G>A	NM_022455.4	NP_071900.2:p.(Met2250Ile)	NC_000005.9:g.176721119G>A	(Likely) benign	3 labs	a294f37c2b
1:43892489 SZT2 C>T	1	43892489	43892489	C	T	SZT2	c.3138+9C>T	NM_015284.3	NP_056099.3:p.?	NC_000001.10:g.43892489C>T	(Likely) benign	2 labs	a2956fa476
7:117243607 CFTR G>T	7	117243607	117243607	G	T	CFTR	c.2679G>T	NM_000492.4	NP_000483.3:p.(Gly893=)	NC_000007.13:g.117243607G>T	(Likely) pathogenic	2 labs	a2998231c4
17:4908298 KIF1C C>T	17	4908298	4908298	C	T	KIF1C	c.1165+3C>T	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4908298C>T	(Likely) benign	2 labs	a2a48d7844
16:71061573 HYDIN C>T	16	71061573	71061573	C	T	HYDIN	c.2974G>A	NM_001270974.2	NP_001257903.1:p.(Ala992Thr)	NC_000016.9:g.71061573C>T	(Likely) benign	2 labs	a29a3bfc89
5:176637569 NSD1 C>T	5	176637569	176637569	C	T	NSD1	c.2169C>T	NM_022455.4	NP_071900.2:p.(Thr723=)	NC_000005.9:g.176637569C>T	(Likely) benign	2 labs	a29d1d72b6
11:66288768 BBS1 C>G	11	66288768	66288768	C	G	BBS1	c.751C>G	NM_024649.4	NP_078925.3:p.(Leu251Val)	NC_000011.9:g.66288768C>G	VUS	2 labs	a2af07418d
1:154557440 ADAR T>G	1	154557440	154557440	T	G	ADAR	c.2638A>C	NM_001193495.2	NP_001180424.1:p.(Arg880=)	NC_000001.10:g.154557440T>G	(Likely) benign	2 labs	a2b13d41a2
1:1147337 TNFRSF4 C>T	1	1147337	1147337	C	T	TNFRSF4	c.619G>A	NM_003327.4	NP_003318.1:p.(Val207Met)	NC_000001.10:g.1147337C>T	(Likely) benign	2 labs	a2bb7d96d5
11:61726991 BEST1 C>T	11	61726991	61726991	C	T	BEST1	c.889C>T	NM_004183.3	NP_004174.1:p.(Pro297Ser)	NC_000011.9:g.61726991C>T	(Likely) pathogenic	2 labs	a2bc905a56
4:123664254 BBS12 G>A	4	123664254	123664254	G	A	BBS12	c.1207G>A	NM_001178007.1	NP_001171478.1:p.(Val403Met)	NC_000004.11:g.123664254G>A	(Likely) benign	2 labs	a2bff26e59
6:43487842 POLR1C C>T	6	43487842	43487842	C	T	POLR1C	c.421C>T	NM_203290.3	NP_976035.1:p.(Arg141Cys)	NC_000006.11:g.43487842C>T	VUS	2 labs	a2c923088e
11:66473321 SPTBN2 C>T	11	66473321	66473321	C	T	SPTBN2	c.1654-13G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66473321C>T	(Likely) benign	2 labs	a2d5a1f4e9
9:13223709 MPDZ C>T	9	13223709	13223709	C	T	MPDZ	c.394G>A	NM_001330637.1	NP_001317566.1:p.(Gly132Ser)	NC_000009.11:g.13223709C>T	VUS	2 labs	a2e7544e5b
13:23915027 SACS T>C	13	23915027	23915027	T	C	SACS	c.2988A>G	NM_014363.5	NP_055178.3:p.(Leu996=)	NC_000013.10:g.23915027T>C	(Likely) benign	2 labs	a2eb8f2214
1:45291981 PTCH2 C>T	1	45291981	45291981	C	T	PTCH2	c.3055G>A	NM_003738.5	NP_003729.3:p.(Val1019Met)	NC_000001.10:g.45291981C>T	VUS	2 labs	a2f6f1ea5f
2:238277596 COL6A3 G>A	2	238277596	238277596	G	A	COL6A3	c.4510C>T	NM_004369.3	NP_004360.2:p.(Arg1504Trp)	NC_000002.11:g.238277596G>A	VUS	2 labs	a2f8f37189
X:99925959 SRPX2 G>A	X	99925959	99925959	G	A	SRPX2	c.1373G>A	NM_014467.2	NP_055282.1:p.(Arg458Gln)	NC_000023.10:g.99925959G>A	(Likely) benign	2 labs	a2fc82af83
X:48458977 WDR13 G>C	X	48458977	48458977	G	C	WDR13	c.518G>C	NM_001166426.2	NP_001159898.1:p.(Cys173Ser)	NC_000023.10:g.48458977G>C	VUS	2 labs	a2fcd49e0f
7:128494697 FLNC G>A	7	128494697	128494697	G	A	FLNC	c.6958G>A	NM_001458.4	NP_001449.3:p.(Gly2320Arg)	NC_000007.13:g.128494697G>A	VUS	3 labs	a307cd2c24
1:119467440 TBX15 T>C	1	119467440	119467440	T	C	TBX15	c.522A>G	NM_001330677.2	NP_001317606.1:p.(Arg174=)	NC_000001.10:g.119467440T>C	(Likely) benign	2 labs	a30cb1c931
17:5463093 NLRP1 C>T	17	5463093	5463093	C	T	NLRP1	c.923G>A	NM_033004.4	NP_127497.1:p.(Arg308Gln)	NC_000017.10:g.5463093C>T	(Likely) benign	2 labs	a30d857553
6:13321202 TBC1D7 C>T	6	13321202	13321202	C	T	TBC1D7	c.238G>A	NM_001318806.1	NP_001305735.1:p.(Val80Ile)	NC_000006.11:g.13321202C>T	VUS	2 labs	a3103a15a7
4:186425731 PDLIM3 G>A	4	186425731	186425731	G	A	PDLIM3	c.803C>T	NM_014476.5	NP_055291.2:p.(Pro268Leu)	NC_000004.11:g.186425731G>A	VUS	3 labs	a3172e1e3a
10:81471631 NUTM2B T>C	10	81471631	81471631	T	C	NUTM2B	c.2027T>C	NM_001278495.1	NP_001265424.1:p.(Met676Thr)	NC_000010.10:g.81471631T>C	(Likely) benign	2 labs	a31b6bc192
14:91755625 CCDC88C G>A	14	91755625	91755625	G	A	CCDC88C	c.4265C>T	NM_001080414.3	NP_001073883.2:p.(Ser1422Leu)	NC_000014.8:g.91755625G>A	(Likely) benign	2 labs	a324f88206
17:38445837 CDC6 C>T	17	38445837	38445837	C	T	CDC6	c.165C>T	NM_001254.4	NP_001245.1:p.(Pro55=)	NC_000017.10:g.38445837C>T	(Likely) benign	3 labs	a33b410202
22:19867753 TXNRD2 C>G	22	19867753	19867753	C	G	TXNRD2	c.1224G>C	NM_006440.5	NP_006431.2:p.(Val408=)	NC_000022.10:g.19867753C>G	(Likely) benign	2 labs	a348c6b41b
1:247611721 NLRP3 A>G	1	247611721	247611721	A	G	NLRP3	c.3020A>G	NM_001243133.1	NP_001230062.1:p.(Tyr1007Cys)	NC_000001.10:g.247611721A>G	VUS	2 labs	a340382747
21:46913477 COL18A1 G>C	21	46913477	46913477	G	C	COL18A1	c.2340G>C	NM_130445.2	NP_569712.2:p.(Gln780His)	NC_000021.8:g.46913477G>C	(Likely) benign	2 labs	a347bf495f
16:3299705 MEFV C>T	16	3299705	3299705	C	T	MEFV	c.986G>A	NM_000243.2	NP_000234.1:p.(Arg329His)	NC_000016.9:g.3299705C>T	(Likely) benign	2 labs	a34868e02e
2:166758247 TTC21B G>A	2	166758247	166758247	G	A	TTC21B	c.2742C>T	NM_024753.4	NP_079029.3:p.(Cys914=)	NC_000002.11:g.166758247G>A	(Likely) benign	2 labs	a34fd30ab8
16:88504534 ZNF469 G>A	16	88504534	88504534	G	A	ZNF469	c.10656G>A	NM_001367624.2	NP_001354553.1:p.(Pro3552=)	NC_000016.9:g.88504534G>A	(Likely) benign	2 labs	a349babc01
13:39263985 FREM2 C>A	13	39263985	39263985	C	A	FREM2	c.2504C>A	NM_207361.6	NP_997244.4:p.(Thr835Asn)	NC_000013.10:g.39263985C>A	VUS	2 labs	a359d1e089
10:50740876 ERCC6 G>C	10	50740876	50740876	G	C	ERCC6	c.135C>G	NM_000124.4	NP_000115.1:p.(Leu45=)	NC_000010.10:g.50740876G>C	(Likely) benign	3 labs	a35a77cc45
9:452003 DOCK8 C>T	9	452003	452003	C	T	DOCK8	c.5962-8C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.452003C>T	(Likely) benign	2 labs	a35cffd300
2:86292453 POLR1A C>T	2	86292453	86292453	C	T	POLR1A	c.2002G>A	NM_015425.5	NP_056240.2:p.(Val668Met)	NC_000002.11:g.86292453C>T	VUS	2 labs	a362fa410a
1:27440500 SLC9A1 G>A	1	27440500	27440500	G	A	SLC9A1	c.630C>T	NM_003047.4	NP_003038.2:p.(Ala210=)	NC_000001.10:g.27440500G>A	(Likely) benign	2 labs	a3646c0ca8
X:110494883 CAPN6 G>A	X	110494883	110494883	G	A	CAPN6	c.787C>T	NM_014289.3	NP_055104.2:p.(Arg263Cys)	NC_000023.10:g.110494883G>A	VUS	2 labs	a37d435aef
1:116245551 CASQ2 A>G	1	116245551	116245551	A	G	CASQ2	c.1005T>C	NM_001232.4	NP_001223.2:p.(Asn335=)	NC_000001.10:g.116245551A>G	(Likely) benign	3 labs	a376d5ff6f
8:126095371 WASHC5 T>C	8	126095371	126095371	T	C	WASHC5	c.316A>G	NM_014846.3	NP_055661.3:p.(Ile106Val)	NC_000008.10:g.126095371T>C	(Likely) benign	2 labs	a382fa1b89
5:56155672 MAP3K1 A>G	5	56155672	56155672	A	G	MAP3K1	c.764A>G	NM_005921.1	NP_005912.1:p.(Asn255Ser)	NC_000005.9:g.56155672A>G	(Likely) benign	2 labs	a3854e59db
8:100836216 VPS13B T>A	8	100836216	100836216	T	A	VPS13B	c.9405+10T>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100836216T>A	(Likely) benign	3 labs	a385929cdb
19:42486054 ATP1A3 G>A	19	42486054	42486054	G	A	ATP1A3	c.1231+6C>T	NM_001256214.1	NP_001243143.1:p.?	NC_000019.9:g.42486054G>A	(Likely) benign	2 labs	a388a30299
4:5642503 EVC2 C>T	4	5642503	5642503	C	T	EVC2	c.968G>A	NM_001166136.1	NP_001159608.1:p.(Ser323Asn)	NC_000004.11:g.5642503C>T	(Likely) benign	2 labs	a3a5072274
17:73273487 SLC25A19 TG>T	17	73273487	73273488	TG	T	SLC25A19	c.720del	NM_001126121.2	NP_001119593.1:p.(Phe240LeufsTer51)	NC_000017.10:g.73273488del	(Likely) pathogenic	2 labs	a3ad2c54a0
X:43603735 MAOA A>G	X	43603735	43603735	A	G	MAOA	c.1160A>G	NM_001270458.1	NP_001257387.1:p.(Lys387Arg)	NC_000023.10:g.43603735A>G	(Likely) benign	2 labs	a3adaf27d5
7:33427727 BBS9 G>A	7	33427727	33427727	G	A	BBS9	c.2086G>A	NM_198428.3	NP_940820.1:p.(Asp696Asn)	NC_000007.13:g.33427727G>A	(Likely) benign	2 labs	a3ac784c0b
19:13427963 CACNA1A A>G	19	13427963	13427963	A	G	CACNA1A	c.1521T>C	NM_023035.2	NP_075461.2:p.(Val507=)	NC_000019.9:g.13427963A>G	(Likely) benign	2 labs	a3b3d5a176
2:152727390 CACNB4 C>T	2	152727390	152727390	C	T	CACNB4	c.599-15G>A	NM_000726.4	NP_000717.2:p.?	NC_000002.11:g.152727390C>T	(Likely) benign	3 labs	a3baf8167a
X:8433498 VCX3B C>T	X	8433498	8433498	C	T	VCX3B	c.7C>T	NM_001001888.3	NP_001001888.3:p.(Pro3Ser)	NC_000023.10:g.8433498C>T	VUS	2 labs	a3c452355c
17:36490678 GPR179 G>T	17	36490678	36490678	G	T	GPR179	c.1693C>A	NM_001004334.4	NP_001004334.3:p.(Arg565=)	NC_000017.10:g.36490678G>T	(Likely) benign	2 labs	a3c51d1fed
19:36236610 PSENEN G>A	19	36236610	36236610	G	A	PSENEN	c.-97+9G>A	NM_172341.3	NP_758844.1:p.?	NC_000019.9:g.36236610G>A	(Likely) benign	2 labs	a3ceb3c92a
21:45705952 AIRE C>T	21	45705952	45705952	C	T	AIRE				NC_000021.8:g.45705952C>T	(Likely) benign	2 labs	a3d689881b
9:139409969 NOTCH1 G>A	9	139409969	139409969	G	A	NOTCH1	c.1869C>T	NM_017617.5	NP_060087.3:p.(Asn623=)	NC_000009.11:g.139409969G>A	(Likely) benign	2 labs	a3db185c12
X:40450506 ATP6AP2 C>T	X	40450506	40450506	C	T	ATP6AP2	c.189C>T	NM_005765.2	NP_005756.2:p.(Leu63=)	NC_000023.10:g.40450506C>T	(Likely) benign	2 labs	a3dd8de1af
3:129292521 PLXND1 C>T	3	129292521	129292521	C	T	PLXND1	c.2753G>A	NM_015103.2	NP_055918.2:p.(Arg918Gln)	NC_000003.11:g.129292521C>T	VUS	2 labs	a3df6c59e7
2:8936931 KIDINS220 A>G	2	8936931	8936931	A	G	KIDINS220	c.1068T>C	NM_020738.4	NP_065789.1:p.(Asp356=)	NC_000002.11:g.8936931A>G	(Likely) benign	3 labs	a3dbd589d0
4:6296817 WFS1 C>T	4	6296817	6296817	C	T	WFS1	c.762C>T	NM_006005.3	NP_005996.2:p.(Tyr254=)	NC_000004.11:g.6296817C>T	(Likely) benign	2 labs	a3f20e32e8
22:50659056 TUBGCP6 G>A	22	50659056	50659056	G	A	TUBGCP6	c.3732C>T	NM_020461.4	NP_065194.3:p.(His1244=)	NC_000022.10:g.50659056G>A	(Likely) benign	2 labs	a3f3e529f0
X:20134961 MAP7D2 G>A	X	20134961	20134961	G	A	MAP7D2	c.37C>T	NM_001168465.2	NP_001161937.1:p.(Arg13Trp)	NC_000023.10:g.20134961G>A	VUS	2 labs	a3f9fd0013
2:179639162 TTN C>G	2	179639162	179639162	C	G	TTN	c.6829G>C	NM_001267550.1	NP_001254479.1:p.(Glu2277Gln)	NC_000002.11:g.179639162C>G	VUS	2 labs	a3fa9cdde9
4:6303013 WFS1 C>T	4	6303013	6303013	C	T	WFS1	c.1491C>T	NM_006005.3	NP_005996.2:p.(Val497=)	NC_000004.11:g.6303013C>T	(Likely) benign	3 labs	a3fb41943f
11:76890800 MYO7A G>A	11	76890800	76890800	G	A	MYO7A	c.2387G>A	NM_000260.3	NP_000251.3:p.(Arg796Gln)	NC_000011.9:g.76890800G>A	VUS	2 labs	a405c6a179
X:152037485 NSDHL C>G	X	152037485	152037485	C	G	NSDHL	c.947C>G	NM_015922.3	NP_057006.1:p.(Pro316Arg)	NC_000023.10:g.152037485C>G	VUS	2 labs	a406760ed3
4:2828969 SH3BP2 G>A	4	2828969	2828969	G	A	SH3BP2	c.612G>A	NM_001145856.1	NP_001139328.1:p.(Ser204=)	NC_000004.11:g.2828969G>A	(Likely) benign	2 labs	a406d1c36d
1:156100388 LMNA C>T	1	156100388	156100388	C	T	LMNA				NC_000001.10:g.156100388C>T	(Likely) benign	2 labs	a40a4ffb90
2:179506020 TTN T>C	2	179506020	179506020	T	C	TTN	c.40581A>G	NM_001267550.2	NP_001254479.2:p.(Glu13527=)	NC_000002.11:g.179506020T>C	(Likely) benign	4 labs	a41334bf8c
15:63351840 TPM1 C>A	15	63351840	63351840	C	A	TPM1	c.453C>A	NM_001018004.2	NP_001018004.1:p.(Ala151=)	NC_000015.9:g.63351840C>A	(Likely) benign	5 labs	a418af44ce
X:66942740 AR C>T	X	66942740	66942740	C	T	AR	c.2521C>T	NM_000044.6	NP_000035.2:p.(Arg841Cys)	NC_000023.10:g.66942740C>T	(Likely) pathogenic	2 labs	a41991051f
2:228173944 COL4A3 G>A	2	228173944	228173944	G	A	COL4A3	c.4665G>A	NM_000091.4	NP_000082.2:p.(Ala1555=)	NC_000002.11:g.228173944G>A	(Likely) benign	3 labs	a4190228f4
4:126371814 FAT4 C>T	4	126371814	126371814	C	T	FAT4	c.9649C>T	NM_001291303.3	NP_001278232.1:p.(His3217Tyr)	NC_000004.11:g.126371814C>T	(Likely) benign	2 labs	a41a217f34
1:27876208 AHDC1 C>G	1	27876208	27876208	C	G	AHDC1	c.2419G>C	NM_001029882.3	NP_001025053.1:p.(Glu807Gln)	NC_000001.10:g.27876208C>G	VUS	2 labs	a428a1d03c
2:179483349 TTN T>C	2	179483349	179483349	T	C	TTN	c.46928A>G	NM_001267550.1	NP_001254479.1:p.(His15643Arg)	NC_000002.11:g.179483349T>C	(Likely) benign	2 labs	a4231d07e3
13:111143589 COL4A2 G>T	13	111143589	111143589	G	T	COL4A2	c.3356G>T	NM_001846.3	NP_001837.2:p.(Gly1119Val)	NC_000013.10:g.111143589G>T	(Likely) pathogenic	2 labs	a42b5f375d
X:1404785 CSF2RA A>G	X	1404785	1404785	A	G	CSF2RA	c.191A>G	NM_006140.6	NP_006131.2:p.(Asp64Gly)	NC_000023.10:g.1404785A>G	(Likely) benign	2 labs	a432ff659d
2:179664604 TTN G>T	2	179664604	179664604	G	T	TTN	c.617C>A	NM_001267550.2	NP_001254479.2:p.(Thr206Lys)	NC_000002.11:g.179664604G>T	VUS	3 labs	a436f08bdb
13:32913558 BRCA2 CA>C	13	32913558	32913565	CA	C	BRCA2	c.5073del	NM_000059.4	NP_000050.3:p.(Lys1691AsnfsTer15)	NC_000013.10:g.32913565del	(Likely) pathogenic	2 labs	a439e65c13
X:17394091 NHS C>T	X	17394091	17394091	C	T	NHS	c.211C>T	NM_001291867.1	NP_001278796.1:p.(Pro71Ser)	NC_000023.10:g.17394091C>T	(Likely) benign	2 labs	a443017117
14:105239367 AKT1 G>A	14	105239367	105239367	G	A	AKT1	c.1020C>T	NM_001014431.2	NP_001014431.1:p.(Tyr340=)	NC_000014.8:g.105239367G>A	(Likely) benign	3 labs	a441d74a71
1:45807784 TOE1 G>A	1	45807784	45807784	G	A	TOE1	c.492+5G>A	NM_025077.4	NP_079353.3:p.?	NC_000001.10:g.45807784G>A	(Likely) benign	2 labs	a44b2a90f3
X:153596289 FLNA C>T	X	153596289	153596289	C	T	FLNA	c.543G>A	NM_001110556.2	NP_001104026.1:p.(Pro181=)	NC_000023.10:g.153596289C>T	(Likely) benign	2 labs	a44fe5c095
14:88407758 GALC G>GT	14	88407758	88407759	G	GT	GALC	c.1814dup	NM_000153.3	NP_000144.2:p.(Tyr605Ter)	NC_000014.8:g.88407759dup	(Likely) pathogenic	2 labs	a455908f8a
11:68154133 LRP5 G>A	11	68154133	68154133	G	A	LRP5	c.1365G>A	NM_002335.3	NP_002326.2:p.(Ser455=)	NC_000011.9:g.68154133G>A	(Likely) benign	2 labs	a45ccdf2a3
X:74334624 ABCB7 T>C	X	74334624	74334624	T	C	ABCB7	c.214A>G	NM_004299.6	NP_004290.2:p.(Lys72Glu)	NC_000023.10:g.74334624T>C	(Likely) benign	2 labs	a45d660398
16:2153383 PKD1 TTGGCGGAGC>T	16	2153383	2153394	TTGGCGGAGC	T	PKD1	c.8666_8674del	NM_001009944.3	NP_001009944.3:p.(Ser2889_Ala2891del)	NC_000016.9:g.2153386_2153394del	(Likely) benign	2 labs	a46ad01586
10:50732755 ERCC6 G>A	10	50732755	50732755	G	A	ERCC6	c.721C>T	NM_001277058.2	NP_001263987.1:p.(Arg241Cys)	NC_000010.10:g.50732755G>A	VUS	2 labs	a4711e02de
16:57918240 CNGB1 G>C	16	57918240	57918240	G	C	CNGB1	c.3584C>G	NM_001297.5	NP_001288.3:p.(Ser1195Cys)	NC_000016.9:g.57918240G>C	(Likely) benign	2 labs	a465bf3f90
10:123276899 FGFR2 A>G	10	123276899	123276899	A	G	FGFR2	c.1018T>C	NM_000141.4	NP_000132.3:p.(Tyr340His)	NC_000010.10:g.123276899A>G	(Likely) pathogenic	2 labs	a474ed38c7
7:45114019 CCM2 C>T	7	45114019	45114019	C	T	CCM2	c.1177+12C>T	NM_001363458.2	NP_001350387.1:p.?	NC_000007.13:g.45114019C>T	(Likely) benign	3 labs	a475ed98ca
1:12066583 MFN2 TTCTC>T	1	12066583	12066589	TTCTC	T	MFN2	c.1717-9_1717-6del	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12066586_12066589del	(Likely) benign	2 labs	a48554f8e7
2:220286161 DES C>T	2	220286161	220286161	C	T	DES	c.1123C>T	NM_001927.4	NP_001918.3:p.(Arg375Trp)	NC_000002.11:g.220286161C>T	VUS	3 labs	a486f31227
2:179411722 TTN A>T	2	179411722	179411722	A	T	TTN	c.94522+8T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179411722A>T	(Likely) benign	2 labs	a4917a915a
19:33321546 SLC7A9 G>A	19	33321546	33321546	G	A	SLC7A9	c.1444C>T	NM_001243036.1	NP_001229965.1:p.(Pro482Ser)	NC_000019.9:g.33321546G>A	(Likely) benign	2 labs	a48cb2cf95
2:179621176 TTN G>A	2	179621176	179621176	G	A	TTN	c.11027C>T	NM_001267550.2	NP_001254479.2:p.(Thr3676Met)	NC_000002.11:g.179621176G>A	VUS	2 labs	a4947b40d0
10:21117460 NEBL G>T	10	21117460	21117460	G	T	NEBL	c.1775C>A	NM_006393.2	NP_006384.1:p.(Ala592Glu)	NC_000010.10:g.21117460G>T	(Likely) benign	2 labs	a4a1de46a9
10:50690906 ERCC6 G>A	10	50690906	50690906	G	A	ERCC6	c.1996C>T	NM_000124.4	NP_000115.1:p.(Arg666Cys)	NC_000010.10:g.50690906G>A	VUS	3 labs	a4a5d026c8
12:54676233 HNRNPA1 A>G	12	54676233	54676233	A	G	HNRNPA1	c.546A>G	NM_031157.3	NP_112420.1:p.(Ser182=)	NC_000012.11:g.54676233A>G	(Likely) benign	2 labs	a4b9f5f1aa
19:50367621 PNKP G>T	19	50367621	50367621	G	T	PNKP	c.538C>A	NM_007254.3	NP_009185.2:p.(Arg180Ser)	NC_000019.9:g.50367621G>T	(Likely) benign	2 labs	a4cba8e6bc
2:179431247 TTN T>C	2	179431247	179431247	T	C	TTN	c.79612A>G	NM_001267550.2	NP_001254479.2:p.(Thr26538Ala)	NC_000002.11:g.179431247T>C	(Likely) benign	3 labs	a4c2c553dc
16:1268257 CACNA1H C>T	16	1268257	1268257	C	T	CACNA1H	c.5493C>T	NM_021098.3	NP_066921.2:p.(Tyr1831=)	NC_000016.9:g.1268257C>T	(Likely) benign	3 labs	a4d36c066f
2:29940529 ALK A>T	2	29940529	29940529	A	T	ALK	c.702T>A	NM_004304.5	NP_004295.2:p.(Pro234=)	NC_000002.11:g.29940529A>T	(Likely) benign	2 labs	a4d436ebc0
1:154562651 ADAR C>T	1	154562651	154562651	C	T	ADAR	c.1611+9G>A	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154562651C>T	(Likely) benign	2 labs	a4e163a2f6
22:46793621 CELSR1 T>C	22	46793621	46793621	T	C	CELSR1	c.5651A>G	NM_014246.4	NP_055061.1:p.(Asn1884Ser)	NC_000022.10:g.46793621T>C	(Likely) benign	2 labs	a4d2a38ad7
19:2251817 AMH T>C	19	2251817	2251817	T	C	AMH	c.1544T>C	NM_000479.5	NP_000470.3:p.(Val515Ala)	NC_000019.9:g.2251817T>C	(Likely) benign	2 labs	a4ea3fa24a
X:153578465 FLNA G>A	X	153578465	153578465	G	A	FLNA	c.7267C>T	NM_001110556.2	NP_001104026.1:p.(Pro2423Ser)	NC_000023.10:g.153578465G>A	(Likely) benign	2 labs	a4ed226806
7:75615273 POR G>A	7	75615273	75615273	G	A	POR	c.1702G>A	NM_001367562.1	NP_001354491.1:p.(Gly568Ser)	NC_000007.13:g.75615273G>A	VUS	2 labs	a4eeb2a880
19:54304482 NLRP12 G>A	19	54304482	54304482	G	A	NLRP12	c.2758C>T	NM_001277126.1	NP_001264055.1:p.(Arg920Trp)	NC_000019.9:g.54304482G>A	(Likely) benign	2 labs	a4f71d4546
11:57571209 CTNND1 A>G	11	57571209	57571209	A	G	CTNND1	c.1537A>G	NM_001085458.1	NP_001078927.1:p.(Asn513Asp)	NC_000011.9:g.57571209A>G	(Likely) benign	2 labs	a50058ebd9
2:179444768 TTN C>G	2	179444768	179444768	C	G	TTN	c.67246G>C	NM_001267550.2	NP_001254479.2:p.(Ala22416Pro)	NC_000002.11:g.179444768C>G	(Likely) benign	5 labs	a503b9e979
X:103268037 H2BW1 G>A	X	103268037	103268037	G	A	H2BW1	c.196C>T	NM_001002916.4	NP_001002916.3:p.(Arg66Cys)	NC_000023.10:g.103268037G>A	(Likely) benign	2 labs	a506af345b
16:56545175 BBS2 T>C	16	56545175	56545175	T	C	BBS2	c.367A>G	NM_031885.5	NP_114091.4:p.(Ile123Val)	NC_000016.9:g.56545175T>C	(Likely) benign	3 labs	a508fcc827
X:101910624 GPRASP1 A>G	X	101910624	101910624	A	G	GPRASP1	c.1783A>G	NM_001184727.1	NP_001171656.1:p.(Arg595Gly)	NC_000023.10:g.101910624A>G	(Likely) benign	2 labs	a50bac1885
X:48933033 WDR45 G>A	X	48933033	48933033	G	A	WDR45	c.820C>T	NM_007075.3	NP_009006.2:p.(Arg274Cys)	NC_000023.10:g.48933033G>A	VUS	2 labs	a51192784d
14:68249803 ZFYVE26 A>C	14	68249803	68249803	A	C	ZFYVE26	c.4066T>G	NM_015346.3	NP_056161.2:p.(Cys1356Gly)	NC_000014.8:g.68249803A>C	(Likely) benign	3 labs	a51db72547
2:228552992 SLC19A3 G>A	2	228552992	228552992	G	A	SLC19A3	c.1204C>T	NM_025243.3	NP_079519.1:p.(Arg402Cys)	NC_000002.11:g.228552992G>A	VUS	2 labs	a51ec8fd6e
15:23889750 MAGEL2 A>G	15	23889750	23889750	A	G	MAGEL2	c.3140T>C	NM_019066.5	NP_061939.3:p.(Val1047Ala)	NC_000015.9:g.23889750A>G	(Likely) benign	4 labs	a527588d8a
3:37056036 MLH1 G>A	3	37056036	37056036	G	A	MLH1	c.790+1G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37056036G>A	(Likely) pathogenic	4 labs	a531670278
19:11687621 ACP5 C>T	19	11687621	11687621	C	T	ACP5	c.299G>A	NM_001111035.2	NP_001104505.1:p.(Arg100His)	NC_000019.9:g.11687621C>T	(Likely) benign	2 labs	a52ecdb5bc
1:43913634 SZT2 C>T	1	43913634	43913634	C	T	SZT2	c.9384C>T	NM_015284.3	NP_056099.3:p.(His3128=)	NC_000001.10:g.43913634C>T	(Likely) benign	2 labs	a534ab8c66
6:51947196 PKHD1 C>T	6	51947196	51947196	C	T	PKHD1	c.275G>A	NM_138694.3	NP_619639.3:p.(Arg92Gln)	NC_000006.11:g.51947196C>T	(Likely) benign	3 labs	a53c7a9c53
2:15417096 NBAS G>A	2	15417096	15417096	G	A	NBAS	c.5268C>T	NM_015909.3	NP_056993.2:p.(His1756=)	NC_000002.11:g.15417096G>A	(Likely) benign	2 labs	a54430567a
15:72987588 BBS4 G>T	15	72987588	72987588	G	T	BBS4	c.76+19G>T	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72987588G>T	(Likely) benign	3 labs	a5498cfd70
11:794491 SLC25A22 C>T	11	794491	794491	C	T	SLC25A22	c.169G>A	NM_001191060.1	NP_001177989.1:p.(Val57Ile)	NC_000011.9:g.794491C>T	(Likely) benign	2 labs	a55fb31708
14:23886226 MYH7 G>A	14	23886226	23886226	G	A	MYH7	c.4520-25C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886226G>A	(Likely) benign	3 labs	a5684ee95a
17:56780620 RAD51C G>A	17	56780620	56780620	G	A	RAD51C	c.635G>A	NM_058216.3	NP_478123.1:p.(Arg212His)	NC_000017.10:g.56780620G>A	VUS	2 labs	a56a3afba1
2:109380221 RANBP2 T>G	2	109380221	109380221	T	G	RANBP2	c.3226T>G	NM_006267.4	NP_006258.3:p.(Leu1076Val)	NC_000002.11:g.109380221T>G	(Likely) benign	3 labs	a568e943a7
11:126162986 TIRAP T>G	11	126162986	126162986	T	G	TIRAP	c.682T>G	NM_148910.2	NP_683708.1:p.(Ser228Ala)	NC_000011.9:g.126162986T>G	(Likely) benign	2 labs	a56c2af2f1
5:14502714 TRIO A>T	5	14502714	14502714	A	T	TRIO	c.8359A>T	NM_007118.3	NP_009049.2:p.(Thr2787Ser)	NC_000005.9:g.14502714A>T	(Likely) benign	2 labs	a56cd1f31f
7:33427700 BBS9 A>G	7	33427700	33427700	A	G	BBS9	c.2059A>G	NM_198428.3	NP_940820.1:p.(Lys687Glu)	NC_000007.13:g.33427700A>G	VUS	3 labs	a5787ea082
7:139717461 TBXAS1 G>A	7	139717461	139717461	G	A	TBXAS1	c.1368-10G>A	NM_001130966.2	NP_001124438.1:p.?	NC_000007.13:g.139717461G>A	VUS	2 labs	a56f440484
2:202571562 ALS2 C>T	2	202571562	202571562	C	T	ALS2	c.4580+7G>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202571562C>T	(Likely) benign	4 labs	a578c1b222
7:66459256 SBDS T>C	7	66459256	66459256	T	C	SBDS	c.201A>G	NM_016038.2	NP_057122.2:p.(Lys67=)	NC_000007.13:g.66459256T>C	(Likely) benign	2 labs	a584817f6e
12:22065893 ABCC9 A>G	12	22065893	22065893	A	G	ABCC9	c.924T>C	NM_005691.2	NP_005682.2:p.(Asp308=)	NC_000012.11:g.22065893A>G	(Likely) benign	3 labs	a5876baea8
22:51153476 MISSING G>A	22	51153476	51153476	G	A	MISSING				NC_000022.10:g.51153476G>A	(Likely) pathogenic	2 labs	a58b9cbc4b
11:5717644 TRIM22 C>A	11	5717644	5717644	C	A	TRIM22	c.182C>A	NM_001199573.1	NP_001186502.1:p.(Thr61Asn)	NC_000011.9:g.5717644C>A	(Likely) benign	2 labs	a59bd2708b
X:150869313 PRRG3 A>G	X	150869313	150869313	A	G	PRRG3	c.504A>G	NM_024082.4	NP_076987.3:p.(Thr168=)	NC_000023.10:g.150869313A>G	(Likely) benign	2 labs	a5948ad85a
15:89862259 POLG T>C	15	89862259	89862259	T	C	POLG	c.3176A>G	NM_002693.3	NP_002684.1:p.(Asn1059Ser)	NC_000015.9:g.89862259T>C	VUS	4 labs	a59d1e8f53
2:179442117 TTN G>A	2	179442117	179442117	G	A	TTN	c.68945C>T	NM_001267550.1	NP_001254479.1:p.(Ser22982Phe)	NC_000002.11:g.179442117G>A	VUS	2 labs	a5a1b8e307
5:127597441 FBN2 G>A	5	127597441	127597441	G	A	FBN2	c.8351C>T	NM_001999.3	NP_001990.2:p.(Pro2784Leu)	NC_000005.9:g.127597441G>A	(Likely) benign	2 labs	a5a239c0ee
6:7542265 DSP GA>G	6	7542265	7542266	GA	G	DSP	c.118del	NM_004415.4	NP_004406.2:p.(Met40CysfsTer8)	NC_000006.11:g.7542266del	(Likely) pathogenic	2 labs	a5adfb0815
19:10489039 TYK2 A>G	19	10489039	10489039	A	G	TYK2	c.44T>C	NM_003331.4	NP_003322.3:p.(Val15Ala)	NC_000019.9:g.10489039A>G	(Likely) benign	2 labs	a5b23848a8
11:103026151 DYNC2H1 G>A	11	103026151	103026151	G	A	DYNC2H1	c.3665G>A	NM_001080463.1	NP_001073932.1:p.(Gly1222Glu)	NC_000011.9:g.103026151G>A	VUS	2 labs	a5beaba7ae
17:29664894 NF1 CA>C	17	29664894	29664897	CA	C	NF1	c.6703del	NM_001042492.3	NP_001035957.1:p.(Arg2235AspfsTer30)	NC_000017.10:g.29664897del	(Likely) pathogenic	2 labs	a5bfa540af
3:38592661 SCN5A G>A	3	38592661	38592661	G	A	SCN5A	c.5202C>T	NM_198056.3	NP_932173.1:p.(Asn1734=)	NC_000003.11:g.38592661G>A	(Likely) benign	4 labs	a5bf5e067a
5:34936241 DNAJC21 T>G	5	34936241	34936241	T	G	DNAJC21	c.316-8T>G	NM_194283.3	NP_919259.3:p.?	NC_000005.9:g.34936241T>G	(Likely) benign	2 labs	a5cb70f4a3
1:12061533 MFN2 G>A	1	12061533	12061533	G	A	MFN2	c.892G>A	NM_014874.4	NP_055689.1:p.(Gly298Arg)	NC_000001.10:g.12061533G>A	(Likely) benign	4 labs	a5c38fc324
X:41333641 NYX A>G	X	41333641	41333641	A	G	NYX	c.935A>G	NM_022567.2	NP_072089.1:p.(Asn312Ser)	NC_000023.10:g.41333641A>G	(Likely) pathogenic	2 labs	a5d807c58a
4:126336703 FAT4 T>C	4	126336703	126336703	T	C	FAT4	c.6585T>C	NM_001291303.3	NP_001278232.1:p.(Asn2195=)	NC_000004.11:g.126336703T>C	(Likely) benign	2 labs	a5d0865f5e
3:184049399 EIF4G1 G>A	3	184049399	184049399	G	A	EIF4G1	c.4398+5G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184049399G>A	(Likely) benign	2 labs	a5d582b8a5
5:37120312 CPLANE1 T>A	5	37120312	37120312	T	A	CPLANE1	c.9148+6A>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37120312T>A	(Likely) benign	2 labs	a5e3e19ba3
5:172659846 NKX2-5 G>C	5	172659846	172659846	G	C	NKX2-5	c.701C>G	NM_004387.3	NP_004378.1:p.(Ser234Trp)	NC_000005.9:g.172659846G>C	VUS	2 labs	a5f2f3e78b
2:121747118 GLI2 G>A	2	121747118	121747118	G	A	GLI2	c.3628G>A	NM_005270.4	NP_005261.2:p.(Gly1210Arg)	NC_000002.11:g.121747118G>A	(Likely) benign	2 labs	a5f5ac97a6
12:31250818 DDX11 G>C	12	31250818	31250818	G	C	DDX11	c.1763-1G>C	NM_030653.3	NP_085911.2:p.?	NC_000012.11:g.31250818G>C	(Likely) pathogenic	2 labs	a601d2b0d5
20:61457211 COL9A3 G>A	20	61457211	61457211	G	A	COL9A3	c.673G>A	NM_001853.4	NP_001844.3:p.(Val225Met)	NC_000020.10:g.61457211G>A	VUS	2 labs	a603350d25
X:10491233 MID1 CA>C	X	10491233	10491249	CA	C	MID1	c.661-7del	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10491249del	(Likely) benign	3 labs	a61d5e7de4
8:145584041 SLC52A2 G>T	8	145584041	145584041	G	T	SLC52A2	c.889G>T	NM_001363118.1	NP_001350047.1:p.(Val297Leu)	NC_000008.10:g.145584041G>T	VUS	2 labs	a61e8838b7
X:44922857 KDM6A C>T	X	44922857	44922857	C	T	KDM6A	c.1718C>T	NM_021140.4	NP_066963.2:p.(Ser573Phe)	NC_000023.10:g.44922857C>T	(Likely) benign	2 labs	a63855c2f9
5:138611841 MATR3 T>A	5	138611841	138611841	T	A	MATR3	c.-339+2T>A	NM_199189.2	NP_954659.1:p.?	NC_000005.9:g.138611841T>A	VUS	2 labs	a640e39eb9
2:228149006 COL4A3 C>T	2	228149006	228149006	C	T	COL4A3	c.2826C>T	NM_000091.4	NP_000082.2:p.(Pro942=)	NC_000002.11:g.228149006C>T	(Likely) benign	3 labs	a64ad6e707
2:179542499 TTN T>C	2	179542499	179542499	T	C	TTN	c.34140A>G	NM_001267550.1	NP_001254479.1:p.(Glu11380=)	NC_000002.11:g.179542499T>C	(Likely) benign	2 labs	a64ea87287
16:31196382 FUS C>T	16	31196382	31196382	C	T	FUS	c.646C>T	NM_004960.4	NP_004951.1:p.(Arg216Cys)	NC_000016.9:g.31196382C>T	VUS	2 labs	a65095332f
X:66905905 AR C>T	X	66905905	66905905	C	T	AR	c.1822C>T	NM_000044.4	NP_000035.2:p.(Arg608Ter)	NC_000023.10:g.66905905C>T	(Likely) pathogenic	2 labs	a65447c4f5
19:15281617 NOTCH3 T>C	19	15281617	15281617	T	C	NOTCH3	c.4756A>G	NM_000435.2	NP_000426.2:p.(Ile1586Val)	NC_000019.9:g.15281617T>C	VUS	2 labs	a655c7c0a7
7:4821347 AP5Z1 C>T	7	4821347	4821347	C	T	AP5Z1	c.328C>T	NM_014855.3	NP_055670.1:p.(Arg110Trp)	NC_000007.13:g.4821347C>T	VUS	2 labs	a657f38fcf
2:97462846 CNNM4 C>T	2	97462846	97462846	C	T	CNNM4	c.1500C>T	NM_020184.4	NP_064569.3:p.(Ile500=)	NC_000002.11:g.97462846C>T	(Likely) benign	2 labs	a65735aa28
22:19750845 TBX1 G>A	22	19750845	19750845	G	A	TBX1	c.492G>A	NM_080647.1	NP_542378.1:p.(Pro164=)	NC_000022.10:g.19750845G>A	(Likely) benign	2 labs	a65cdb68d0
13:23928825 SACS GC>G	13	23928825	23928828	GC	G	SACS	c.1925del	NM_014363.6	NP_055178.3:p.(Gly642AlafsTer10)	NC_000013.10:g.23928828del	(Likely) pathogenic	2 labs	a666215c30
6:146755561 GRM1 C>G	6	146755561	146755561	C	G	GRM1	c.3214C>G	NM_001278064.1	NP_001264993.1:p.(Pro1072Ala)	NC_000006.11:g.146755561C>G	(Likely) benign	2 labs	a66d533e11
2:217293414 SMARCAL1 A>G	2	217293414	217293414	A	G	SMARCAL1	c.1243A>G	NM_014140.3	NP_054859.2:p.(Ser415Gly)	NC_000002.11:g.217293414A>G	(Likely) benign	2 labs	a673a3c043
4:77661592 SHROOM3 C>T	4	77661592	77661592	C	T	SHROOM3	c.2266C>T	NM_020859.3	NP_065910.3:p.(Leu756=)	NC_000004.11:g.77661592C>T	(Likely) benign	2 labs	a68edd2c6c
8:61765407 CHD7 C>T	8	61765407	61765407	C	T	CHD7	c.6123C>T	NM_017780.4	NP_060250.2:p.(Ser2041=)	NC_000008.10:g.61765407C>T	(Likely) benign	2 labs	a69016c712
19:44047839 XRCC1 C>T	19	44047839	44047839	C	T	XRCC1	c.1713G>A	NM_006297.3	NP_006288.2:p.(Gly571=)	NC_000019.9:g.44047839C>T	(Likely) benign	2 labs	a6950b8277
X:76938028 ATRX C>T	X	76938028	76938028	C	T	ATRX	c.2720G>A	NM_000489.5	NP_000480.3:p.(Arg907Gln)	NC_000023.10:g.76938028C>T	(Likely) benign	2 labs	a6ab0ef9cb
21:33040849 SOD1 T>A	21	33040849	33040849	T	A	SOD1	c.423T>A	NM_000454.5	NP_000445.1:p.(Ala141=)	NC_000021.8:g.33040849T>A	(Likely) benign	3 labs	a69826dc5b
2:179643934 TTN A>G	2	179643934	179643934	A	G	TTN	c.3963+22T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179643934A>G	(Likely) benign	2 labs	a6b3eb0009
6:76599876 MYO6 G>T	6	76599876	76599876	G	T	MYO6	c.2761G>T	NM_004999.3	NP_004990.3:p.(Glu921Ter)	NC_000006.11:g.76599876G>T	(Likely) pathogenic	2 labs	a6b4510a06
15:45402883 DUOX2 G>C	15	45402883	45402883	G	C	DUOX2	c.908C>G	NM_001363711.2	NP_001350640.1:p.(Pro303Arg)	NC_000015.9:g.45402883G>C	(Likely) benign	2 labs	a6b568dd28
17:41246260 BRCA1 C>CT	17	41246260	41246261	C	CT	BRCA1	c.1287dup	NM_007294.4	NP_009225.1:p.(Asp430ArgfsTer6)	NC_000017.10:g.41246261dup	(Likely) pathogenic	6 labs	a6c1638f34
11:17452471 ABCC8 G>A	11	17452471	17452471	G	A	ABCC8	c.1707C>T	NM_001287174.1	NP_001274103.1:p.(Ala569=)	NC_000011.9:g.17452471G>A	(Likely) benign	2 labs	a6bee5f56b
6:88299669 RARS2 A>G	6	88299669	88299669	A	G	RARS2	c.7T>C	NM_020320.5	NP_064716.2:p.(Cys3Arg)	NC_000006.11:g.88299669A>G	VUS	2 labs	a6d00b2c64
20:62309679 RTEL1 C>T	20	62309679	62309679	C	T	RTEL1	c.1017C>T	NM_001283009.1	NP_001269938.1:p.(Ser339=)	NC_000020.10:g.62309679C>T	(Likely) benign	2 labs	a6ce0237de
10:112572124 RBM20 TC>AG	10	112572124	112572125	TC	AG	RBM20	c.1969_1970delinsAG	NM_001134363.1	NP_001127835.1:p.(Ser657=)	NC_000010.10:g.112572124_112572125delinsAG	(Likely) benign	2 labs	a6ce6986cf
22:21346485 LZTR1 T>C	22	21346485	21346485	T	C	LZTR1	c.994-18T>C	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21346485T>C	(Likely) benign	3 labs	a6d747f671
21:47842018 PCNT G>A	21	47842018	47842018	G	A	PCNT	c.7159G>A	NM_006031.5	NP_006022.3:p.(Val2387Met)	NC_000021.8:g.47842018G>A	(Likely) benign	2 labs	a6d0d8f422
21:34624976 IFNAR2 G>A	21	34624976	34624976	G	A	IFNAR2	c.550G>A	NM_001289125.1	NP_001276054.1:p.(Glu184Lys)	NC_000021.8:g.34624976G>A	(Likely) benign	2 labs	a6d28ac4ec
17:78063635 CCDC40 C>T	17	78063635	78063635	C	T	CCDC40	c.2784C>T	NM_017950.3	NP_060420.2:p.(Ile928=)	NC_000017.10:g.78063635C>T	(Likely) benign	2 labs	a6d7ff20e8
17:73748558 ITGB4 C>T	17	73748558	73748558	C	T	ITGB4	c.4008C>T	NM_000213.5	NP_000204.3:p.(Asp1336=)	NC_000017.10:g.73748558C>T	(Likely) benign	3 labs	a6dd69839a
11:6630558 ILK A>G	11	6630558	6630558	A	G	ILK	c.647A>G	NM_004517.4	NP_004508.1:p.(Asp216Gly)	NC_000011.9:g.6630558A>G	VUS	2 labs	a6e8da2c7e
13:32912770 BRCA2 A>AT	13	32912770	32912776	A	AT	BRCA2	c.4284dup	NM_000059.3	NP_000050.2:p.(Gln1429SerfsTer9)	NC_000013.10:g.32912776dup	(Likely) pathogenic	2 labs	a6ea53f108
2:179414508 TTN G>A	2	179414508	179414508	G	A	TTN	c.91941C>T	NM_001267550.1	NP_001254479.1:p.(Asp30647=)	NC_000002.11:g.179414508G>A	(Likely) benign	2 labs	a6f6cf574e
11:69631101 FGF3 C>CG	11	69631101	69631102	C	CG	FGF3	c.310dup	NM_005247.3	NP_005238.1:p.(Arg104ProfsTer24)	NC_000011.9:g.69631102dup	(Likely) pathogenic	2 labs	a7023020e0
X:70389799 NLGN3 C>T	X	70389799	70389799	C	T	NLGN3	c.2399C>T	NM_181303.2	NP_851820.1:p.(Pro800Leu)	NC_000023.10:g.70389799C>T	VUS	2 labs	a702b674ae
10:75855586 VCL T>G	10	75855586	75855586	T	G	VCL	c.1716T>G	NM_014000.3	NP_054706.1:p.(Leu572=)	NC_000010.10:g.75855586T>G	(Likely) benign	2 labs	a7130f5f14
4:187549725 FAT1 G>A	4	187549725	187549725	G	A	FAT1	c.4516C>T	NM_005245.3	NP_005236.2:p.(Arg1506Cys)	NC_000004.11:g.187549725G>A	VUS	2 labs	a70eec0db4
1:152279175 FLG C>T	1	152279175	152279175	C	T	FLG	c.8187G>A	NM_002016.1	NP_002007.1:p.(Gly2729=)	NC_000001.10:g.152279175C>T	(Likely) benign	2 labs	a7140e0d7a
16:1411761 GNPTG C>T	16	1411761	1411761	C	T	GNPTG	c.196C>T	NM_032520.5	NP_115909.1:p.(Arg66Ter)	NC_000016.9:g.1411761C>T	(Likely) pathogenic	3 labs	a715e48b92
17:7906519 GUCY2D G>T	17	7906519	7906519	G	T	GUCY2D	c.154G>T	NM_000180.4	NP_000171.1:p.(Ala52Ser)	NC_000017.10:g.7906519G>T	(Likely) benign	4 labs	a72380a314
9:140128107 SLC34A3 G>A	9	140128107	140128107	G	A	SLC34A3	c.779G>A	NM_001177317.1	NP_001170788.1:p.(Ser260Asn)	NC_000009.11:g.140128107G>A	(Likely) benign	2 labs	a7296304db
3:37050254 MLH1 T>C	3	37050254	37050254	T	C	MLH1	c.454-51T>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37050254T>C	(Likely) benign	2 labs	a730ec89ac
X:53277307 IQSEC2 G>T	X	53277307	53277307	G	T	IQSEC2	c.2571C>A	NM_001111125.3	NP_001104595.1:p.(Ile857=)	NC_000023.10:g.53277307G>T	(Likely) benign	4 labs	a73c084fc6
2:32370014 SPAST A>G	2	32370014	32370014	A	G	SPAST	c.1625A>G	NM_014946.3	NP_055761.2:p.(Asp542Gly)	NC_000002.11:g.32370014A>G	VUS	2 labs	a735da55c7
11:66291263 BBS1 C>G	11	66291263	66291263	C	G	BBS1	c.1020C>G	NM_024649.5	NP_078925.3:p.(Ser340=)	NC_000011.9:g.66291263C>G	(Likely) benign	2 labs	a73d7d97f0
16:732049 STUB1 T>C	16	732049	732049	T	C	STUB1	c.426T>C	NM_001293197.1	NP_001280126.1:p.(Leu142=)	NC_000016.9:g.732049T>C	(Likely) benign	2 labs	a73db8d71b
6:87966126 ZNF292 ACTC>A	6	87966126	87966132	ACTC	A	ZNF292	c.2783_2785del	NM_015021.3	NP_055836.1:p.(Pro928del)	NC_000006.11:g.87966130_87966132del	VUS	2 labs	a73e259189
18:43534930 EPG5 C>T	18	43534930	43534930	C	T	EPG5	c.438G>A	NM_020964.3	NP_066015.2:p.(Ser146=)	NC_000018.9:g.43534930C>T	(Likely) benign	2 labs	a741129ef6
16:2115506 TSC2 C>T	16	2115506	2115506	C	T	TSC2	c.1600-14C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2115506C>T	(Likely) benign	2 labs	a7443020f2
3:142275353 ATR C>T	3	142275353	142275353	C	T	ATR	c.1950G>A	NM_001184.3	NP_001175.2:p.(Glu650=)	NC_000003.11:g.142275353C>T	(Likely) benign	2 labs	a746fb5fe8
10:16873396 CUBN G>A	10	16873396	16873396	G	A	CUBN	c.10383C>T	NM_001081.3	NP_001072.2:p.(Ser3461=)	NC_000010.10:g.16873396G>A	(Likely) benign	2 labs	a749950db6
22:41914532 ACO2 C>T	22	41914532	41914532	C	T	ACO2	c.988C>T	NM_001098.2	NP_001089.1:p.(Pro330Ser)	NC_000022.10:g.41914532C>T	VUS	2 labs	a74cdd1ff0
17:48703688 CACNA1G C>A	17	48703688	48703688	C	A	CACNA1G	c.6710C>A	NM_018896.4	NP_061496.2:p.(Pro2237His)	NC_000017.10:g.48703688C>A	(Likely) benign	2 labs	a758f28b12
16:2329071 ABCA3 G>A	16	2329071	2329071	G	A	ABCA3	c.4420C>T	NM_001089.2	NP_001080.2:p.(Arg1474Trp)	NC_000016.9:g.2329071G>A	(Likely) benign	2 labs	a75c35eaa2
3:186974618 MASP1 C>T	3	186974618	186974618	C	T	MASP1	c.578G>A	NM_001879.5	NP_001870.3:p.(Arg193Lys)	NC_000003.11:g.186974618C>T	VUS	2 labs	a76484157a
20:57430328 GNAS G>A	20	57430328	57430328	G	A	GNAS	c.2008G>A	NM_080425.3	NP_536350.2:p.(Asp670Asn)	NC_000020.10:g.57430328G>A	VUS	2 labs	a767d0eb4e
4:126408586 FAT4 C>T	4	126408586	126408586	C	T	FAT4	c.12909C>T	NM_001291303.3	NP_001278232.1:p.(Asp4303=)	NC_000004.11:g.126408586C>T	(Likely) benign	2 labs	a7628614b8
7:45115662 CCM2 A>G	7	45115662	45115662	A	G	CCM2	c.*6A>G	NM_031443.3	NP_113631.1:p.?	NC_000007.13:g.45115662A>G	(Likely) benign	2 labs	a779972edf
15:72103821 NR2E3 A>C	15	72103821	72103821	A	C	NR2E3	c.119-2A>C	NM_016346.4	NP_057430.1:p.?	NC_000015.9:g.72103821A>C	(Likely) pathogenic	3 labs	a77e702a29
7:31011602 GHRHR C>T	7	31011602	31011602	C	T	GHRHR	c.489C>T	NM_000823.3	NP_000814.2:p.(Tyr163=)	NC_000007.13:g.31011602C>T	(Likely) benign	2 labs	a789594b9f
8:61654207 CHD7 T>C	8	61654207	61654207	T	C	CHD7	c.216T>C	NM_017780.4	NP_060250.2:p.(Tyr72=)	NC_000008.10:g.61654207T>C	(Likely) benign	2 labs	a78a4309ae
7:99800128 STAG3 G>A	7	99800128	99800128	G	A	STAG3	c.2615G>A	NM_012447.4	NP_036579.2:p.(Arg872His)	NC_000007.13:g.99800128G>A	VUS	2 labs	a795af2241
14:102916966 TECPR2 C>A	14	102916966	102916966	C	A	TECPR2	c.3386C>A	NM_014844.4	NP_055659.2:p.(Ser1129Tyr)	NC_000014.8:g.102916966C>A	VUS	2 labs	a794261396
20:57014075 VAPB T>G	20	57014075	57014075	T	G	VAPB	c.390T>G	NM_004738.4	NP_004729.1:p.(Asp130Glu)	NC_000020.10:g.57014075T>G	(Likely) benign	2 labs	a7955a45c2
16:89613064 SPG7 AGGAGAGGCG>A	16	89613064	89613078	AGGAGAGGCG	A	SPG7	c.1454_1462del	NM_003119.4	NP_003110.1:p.(Arg485_Glu487del)	NC_000016.9:g.89613070_89613078del	(Likely) pathogenic	4 labs	a795f072fb
2:27683963 IFT172 G>A	2	27683963	27683963	G	A	IFT172	c.2443-3C>T	NM_015662.2	NP_056477.1:p.?	NC_000002.11:g.27683963G>A	(Likely) benign	2 labs	a7aed98824
15:40937938 KNL1 G>T	15	40937938	40937938	G	T	KNL1	c.6052G>T	NM_170589.4	NP_733468.3:p.(Ala2018Ser)	NC_000015.9:g.40937938G>T	(Likely) benign	2 labs	a7af9e6cf0
17:80402006 CYBC1 C>T	17	80402006	80402006	C	T	CYBC1	c.444-6G>A	NM_001193653.1	NP_001180582.1:p.?	NC_000017.10:g.80402006C>T	(Likely) benign	2 labs	a7b08a948b
8:62438574 ASPH T>C	8	62438574	62438574	T	C	ASPH	c.1862A>G	NM_004318.3	NP_004309.2:p.(Glu621Gly)	NC_000008.10:g.62438574T>C	VUS	2 labs	a7b151e5dc
14:92537353 ATXN3 C>CG	14	92537353	92537354	C	CG	ATXN3	c.916_917insC	NM_004993.6	NP_004984.2:p.(Gly306AlafsTer12)	NC_000014.8:g.92537353_92537354insG	(Likely) benign	3 labs	a7b8377ced
9:71650692 FXN G>A	9	71650692	71650692	G	A	FXN	c.-7G>A	NM_000144.4	NP_000135.2:p.?	NC_000009.11:g.71650692G>A	(Likely) benign	2 labs	a7bce716a9
4:126241720 FAT4 T>C	4	126241720	126241720	T	C	FAT4	c.4154T>C	NM_001291303.1	NP_001278232.1:p.(Leu1385Ser)	NC_000004.11:g.126241720T>C	(Likely) benign	2 labs	a7c036295b
17:73008939 MRPL58 A>C	17	73008939	73008939	A	C	MRPL58	c.158A>C	NM_001545.3	NP_001536.1:p.(Gln53Pro)	NC_000017.10:g.73008939A>C	VUS	2 labs	a7c08ad912
9:123769242 C5 A>C	9	123769242	123769242	A	C	C5	c.2380T>G	NM_001317163.1	NP_001304092.1:p.(Phe794Val)	NC_000009.11:g.123769242A>C	(Likely) benign	2 labs	a7c636974b
11:78433850 TENM4 G>A	11	78433850	78433850	G	A	TENM4	c.3663C>T	NM_001098816.3	NP_001092286.2:p.(Asn1221=)	NC_000011.9:g.78433850G>A	(Likely) benign	2 labs	a7be15e6ed
13:39450435 FREM2 C>G	13	39450435	39450435	C	G	FREM2	c.8460C>G	NM_207361.5	NP_997244.4:p.(Ala2820=)	NC_000013.10:g.39450435C>G	(Likely) benign	2 labs	a7cfe056c7
2:179499229 TTN C>A	2	179499229	179499229	C	A	TTN	c.42279G>T	NM_001267550.1	NP_001254479.1:p.(Lys14093Asn)	NC_000002.11:g.179499229C>A	VUS	2 labs	a7d1102bfa
19:39070762 RYR1 G>A	19	39070762	39070762	G	A	RYR1	c.14505G>A	NM_000540.2	NP_000531.2:p.(Gly4835=)	NC_000019.9:g.39070762G>A	(Likely) benign	4 labs	a7e3df91f4
5:1432733 SLC6A3 G>A	5	1432733	1432733	G	A	SLC6A3	c.499C>T	NM_001044.4	NP_001035.1:p.(Leu167Phe)	NC_000005.9:g.1432733G>A	(Likely) benign	2 labs	a7e5deeb34
2:44041634 ABCG5 C>T	2	44041634	44041634	C	T	ABCG5	c.1744G>A	NM_022436.3	NP_071881.1:p.(Gly582Arg)	NC_000002.11:g.44041634C>T	VUS	2 labs	a7dcf64446
19:7532258 ARHGEF18 G>C	19	7532258	7532258	G	C	ARHGEF18	c.2442G>C	NM_001130955.2	NP_001124427.2:p.(Leu814=)	NC_000019.9:g.7532258G>C	(Likely) benign	2 labs	a7e6255428
1:197298081 CRB1 A>G	1	197298081	197298081	A	G	CRB1	c.393A>G	NM_001257965.2	NP_001244894.1:p.(Thr131=)	NC_000001.10:g.197298081A>G	(Likely) benign	2 labs	a7e9abcc96
15:85383134 ALPK3 G>C	15	85383134	85383134	G	C	ALPK3	c.624G>C	NM_020778.5	NP_065829.4:p.(Gly208=)	NC_000015.9:g.85383134G>C	(Likely) benign	3 labs	a7f6d4132d
X:44732836 KDM6A T>TGCC	X	44732836	44732847	T	TGCC	KDM6A	c.48_50dup	NM_021140.4	NP_066963.2:p.(Ala17dup)	NC_000023.10:g.44732845_44732847dup	(Likely) benign	3 labs	a817e929af
2:220023028 NHEJ1 T>C	2	220023028	220023028	T	C	NHEJ1	c.57A>G	NM_024782.2	NP_079058.1:p.(Ala19=)	NC_000002.11:g.220023028T>C	(Likely) benign	2 labs	a816b0aa6f
12:124241506 ATP6V0A2 C>T	12	124241506	124241506	C	T	ATP6V0A2	c.2438C>T	NM_012463.3	NP_036595.2:p.(Ala813Val)	NC_000012.11:g.124241506C>T	(Likely) benign	2 labs	a828bd6641
16:50744939 NOD2 C>T	16	50744939	50744939	C	T	NOD2	c.1117C>T	NM_022162.1	NP_071445.1:p.(Arg373Cys)	NC_000016.9:g.50744939C>T	VUS	2 labs	a8309055c0
10:112581108 RBM20 G>A	10	112581108	112581108	G	A	RBM20	c.2731G>A	NM_001134363.3	NP_001127835.2:p.(Val911Met)	NC_000010.10:g.112581108G>A	VUS	3 labs	a82f09d2e2
3:97516871 ARL6 A>AGATCC	3	97516871	97516876	A	AGATCC	ARL6	c.540_544dup	NM_032146.5	NP_115522.1:p.(Gln182ArgfsTer5)	NC_000003.11:g.97516872_97516876dup	VUS	3 labs	a83a648d7f
13:20763490 GJB2 C>T	13	20763490	20763490	C	T	GJB2	c.231G>A	NM_004004.6	NP_003995.2:p.(Trp77Ter)	NC_000013.10:g.20763490C>T	(Likely) pathogenic	2 labs	a8460c1d1f
10:112404357 RBM20 CAG>C	10	112404357	112404359	CAG	C	RBM20	c.146_147del	NM_001134363.3	NP_001127835.2:p.(Gln49ProfsTer29)	NC_000010.10:g.112404358_112404359del	(Likely) benign	2 labs	a855d364c1
15:82443866 EFL1 G>A	15	82443866	82443866	G	A	EFL1	c.2929C>T	NM_001322845.1	NP_001309774.1:p.(Pro977Ser)	NC_000015.9:g.82443866G>A	VUS	2 labs	a855624680
19:11311386 DOCK6 G>A	19	11311386	11311386	G	A	DOCK6	c.5939+6C>T	NM_020812.3	NP_065863.2:p.?	NC_000019.9:g.11311386G>A	(Likely) benign	2 labs	a858d2ec6d
9:139841132 C8G G>A	9	139841132	139841132	G	A	C8G	c.586G>A	NM_000606.3	NP_000597.2:p.(Val196Ile)	NC_000009.11:g.139841132G>A	(Likely) benign	2 labs	a85c83fb50
5:138658401 MATR3 C>T	5	138658401	138658401	C	T	MATR3	c.1893C>T	NM_199189.2	NP_954659.1:p.(Ser631=)	NC_000005.9:g.138658401C>T	(Likely) benign	2 labs	a861715548
19:13470522 CACNA1A T>C	19	13470522	13470522	T	C	CACNA1A	c.876A>G	NM_023035.3	NP_075461.2:p.(Glu292=)	NC_000019.9:g.13470522T>C	(Likely) benign	3 labs	a8627e1298
20:10386013 MKKS C>A	20	10386013	10386013	C	A	MKKS	c.1595G>T	NM_018848.3	NP_061336.1:p.(Gly532Val)	NC_000020.10:g.10386013C>A	(Likely) benign	3 labs	a864fb068f
X:129149891 BCORL1 G>A	X	129149891	129149891	G	A	BCORL1	c.3143G>A	NM_021946.5	NP_068765.3:p.(Arg1048Gln)	NC_000023.10:g.129149891G>A	(Likely) benign	2 labs	a867b56f16
2:27591591 EIF2B4 C>T	2	27591591	27591591	C	T	EIF2B4	c.428G>A	NM_001034116.1	NP_001029288.1:p.(Arg143His)	NC_000002.11:g.27591591C>T	(Likely) benign	2 labs	a872d85fd9
X:44109673 EFHC2 G>A	X	44109673	44109673	G	A	EFHC2	c.625C>T	NM_025184.3	NP_079460.2:p.(Pro209Ser)	NC_000023.10:g.44109673G>A	VUS	2 labs	a87ef73b80
6:49426858 MMUT G>A	6	49426858	49426858	G	A	MMUT	c.322C>T	NM_000255.3	NP_000246.2:p.(Arg108Cys)	NC_000006.11:g.49426858G>A	(Likely) pathogenic	2 labs	a8833f3e33
2:21237422 APOB T>C	2	21237422	21237422	T	C	APOB	c.3740A>G	NM_000384.3	NP_000375.3:p.(Tyr1247Cys)	NC_000002.11:g.21237422T>C	(Likely) benign	2 labs	a87af3c46f
17:79477841 ACTG1 G>A	17	79477841	79477841	G	A	ACTG1	c.1003C>T	NM_001199954.2	NP_001186883.1:p.(Arg335Cys)	NC_000017.10:g.79477841G>A	(Likely) pathogenic	2 labs	a88b336252
1:47882545 FOXE3 C>CCCCTACGCG	1	47882545	47882566	C	CCCCTACGCG	FOXE3	c.571_579dup	NM_012186.2	NP_036318.1:p.(Tyr191_Pro193dup)	NC_000001.10:g.47882558_47882566dup	VUS	2 labs	a89d80400e
2:15415867 NBAS T>G	2	15415867	15415867	T	G	NBAS	c.5465A>C	NM_015909.3	NP_056993.2:p.(Asn1822Thr)	NC_000002.11:g.15415867T>G	VUS	2 labs	a8a4feb9ca
2:64189566 VPS54 A>G	2	64189566	64189566	A	G	VPS54	c.636T>C	NM_016516.3	NP_057600.2:p.(Tyr212=)	NC_000002.11:g.64189566A>G	(Likely) benign	2 labs	a89f143e71
8:61655556 CHD7 G>T	8	61655556	61655556	G	T	CHD7	c.1565G>T	NM_017780.4	NP_060250.2:p.(Gly522Val)	NC_000008.10:g.61655556G>T	(Likely) benign	2 labs	a8bd965ecc
8:61736593 CHD7 T>C	8	61736593	61736593	T	C	CHD7				NC_000008.10:g.61736593T>C	(Likely) benign	2 labs	a8b0013f36
14:76431941 TGFB3 G>T	14	76431941	76431941	G	T	TGFB3	c.744C>A	NM_003239.5	NP_003230.1:p.(Ile248=)	NC_000014.8:g.76431941G>T	(Likely) benign	3 labs	a8b0eab805
11:68154163 LRP5 A>C	11	68154163	68154163	A	C	LRP5	c.1395A>C	NM_002335.4	NP_002326.2:p.(Ala465=)	NC_000011.9:g.68154163A>C	(Likely) benign	2 labs	a8b56d1d63
3:46904877 MYL3 C>G	3	46904877	46904877	C	G	MYL3	c.4G>C	NM_000258.3	NP_000249.1:p.(Ala2Pro)	NC_000003.11:g.46904877C>G	VUS	3 labs	a8be3dab57
3:52424975 DNAH1 C>G	3	52424975	52424975	C	G	DNAH1	c.9646C>G	NM_015512.5	NP_056327.4:p.(Leu3216Val)	NC_000003.11:g.52424975C>G	VUS	3 labs	a8c28c28d7
13:111158874 COL4A2 A>G	13	111158874	111158874	A	G	COL4A2	c.4515A>G	NM_001846.4	NP_001837.2:p.(Pro1505=)	NC_000013.10:g.111158874A>G	(Likely) benign	3 labs	a8cb2470d6
2:227973562 COL4A4 C>T	2	227973562	227973562	C	T	COL4A4	c.680G>A	NM_000092.4	NP_000083.3:p.(Arg227His)	NC_000002.11:g.227973562C>T	VUS	2 labs	a8cb56cf8a
17:7573897 TP53 T>A	17	7573897	7573897	T	A	TP53	c.1100+30A>T	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7573897T>A	(Likely) benign	3 labs	a8ce3d664a
8:134030020 TG C>T	8	134030020	134030020	C	T	TG	c.6563-3C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134030020C>T	(Likely) benign	2 labs	a8cf426764
11:47360071 MYBPC3 C>T	11	47360071	47360071	C	T	MYBPC3	c.2308G>A	NM_000256.3	NP_000247.2:p.(Asp770Asn)	NC_000011.9:g.47360071C>T	(Likely) pathogenic	5 labs	a8d1249d0e
17:48655539 CACNA1G C>T	17	48655539	48655539	C	T	CACNA1G	c.1925-10C>T	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48655539C>T	(Likely) benign	2 labs	a8d2867a54
15:41337197 INO80 C>T	15	41337197	41337197	C	T	INO80	c.2812G>A	NM_017553.3	NP_060023.1:p.(Glu938Lys)	NC_000015.9:g.41337197C>T	(Likely) benign	2 labs	a8d2bb6cf3
19:6495223 TUBB4A C>T	19	6495223	6495223	C	T	TUBB4A	c.1287G>A	NM_006087.4	NP_006078.2:p.(Thr429=)	NC_000019.9:g.6495223C>T	(Likely) benign	2 labs	a8e5a81f29
11:118376925 KMT2A A>G	11	118376925	118376925	A	G	KMT2A	c.10318A>G	NM_001197104.1	NP_001184033.1:p.(Ile3440Val)	NC_000011.9:g.118376925A>G	(Likely) benign	2 labs	a8e6a524d1
6:152652184 SYNE1 C>T	6	152652184	152652184	C	T	SYNE1	c.13636G>A	NM_182961.3	NP_892006.3:p.(Val4546Ile)	NC_000006.11:g.152652184C>T	(Likely) benign	2 labs	a8e805c624
13:32914592 BRCA2 C>T	13	32914592	32914592	C	T	BRCA2	c.6100C>T	NM_000059.4	NP_000050.3:p.(Arg2034Cys)	NC_000013.10:g.32914592C>T	(Likely) benign	7 labs	a8eeac345b
16:46694553 VPS35 T>G	16	46694553	46694553	T	G	VPS35	c.2222A>C	NM_018206.6	NP_060676.2:p.(Gln741Pro)	NC_000016.9:g.46694553T>G	VUS	3 labs	a8f09686bd
18:29104651 DSG2 G>C	18	29104651	29104651	G	C	DSG2	c.829-15G>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29104651G>C	(Likely) benign	2 labs	a8f60c90cd
2:179647546 TTN A>G	2	179647546	179647546	A	G	TTN	c.3087T>C	NM_001267550.2	NP_001254479.2:p.(Tyr1029=)	NC_000002.11:g.179647546A>G	(Likely) benign	2 labs	a8ed1a40a0
10:73377112 CDH23 G>A	10	73377112	73377112	G	A	CDH23	c.1096G>A	NM_022124.5	NP_071407.4:p.(Ala366Thr)	NC_000010.10:g.73377112G>A	(Likely) benign	3 labs	a8f7874c28
6:13321321 TBC1D7 A>C	6	13321321	13321321	A	C	TBC1D7	c.200T>G	NM_016495.5	NP_057579.1:p.(Leu67Trp)	NC_000006.11:g.13321321A>C	(Likely) benign	2 labs	a901317b48
16:89346041 ANKRD11 G>A	16	89346041	89346041	G	A	ANKRD11	c.6909C>T	NM_001256182.1	NP_001243111.1:p.(Ala2303=)	NC_000016.9:g.89346041G>A	(Likely) benign	2 labs	a92314f741
13:110833751 COL4A1 C>CA	13	110833751	110833763	C	CA	COL4A1	c.2096-16dup	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110833763dup	(Likely) benign	4 labs	a920298ba6
17:73518081 TSEN54 G>T	17	73518081	73518081	G	T	TSEN54				NC_000017.10:g.73518081G>T	(Likely) pathogenic	5 labs	a925c40a58
17:39919513 JUP C>T	17	39919513	39919513	C	T	JUP	c.1219G>A	NM_001352773.2	NP_001339702.1:p.(Val407Ile)	NC_000017.10:g.39919513C>T	VUS	3 labs	a92d330fdf
18:12712718 PSMG2 A>G	18	12712718	12712718	A	G	PSMG2	c.247A>G	NM_020232.5	NP_064617.2:p.(Arg83Gly)	NC_000018.9:g.12712718A>G	(Likely) benign	2 labs	a932a4d3d2
1:55523187 PCSK9 G>A	1	55523187	55523187	G	A	PCSK9	c.1180G>A	NM_174936.4	NP_777596.2:p.(Gly394Ser)	NC_000001.10:g.55523187G>A	VUS	2 labs	a932da65c3
11:1785082 CTSD G>A	11	1785082	1785082	G	A	CTSD	c.8C>T	NM_001909.5	NP_001900.1:p.(Pro3Leu)	NC_000011.9:g.1785082G>A	(Likely) benign	2 labs	a936039f39
10:88476165 LDB3 C>A	10	88476165	88476165	C	A	LDB3	c.1313C>A	NM_007078.2	NP_009009.1:p.(Thr438Asn)	NC_000010.10:g.88476165C>A	VUS	2 labs	a93ff08856
3:132407633 NPHP3 C>T	3	132407633	132407633	C	T	NPHP3	c.2986G>A	NM_153240.4	NP_694972.3:p.(Val996Met)	NC_000003.11:g.132407633C>T	VUS	2 labs	a9508858b5
4:120057719 MYOZ2 G>A	4	120057719	120057719	G	A	MYOZ2	c.39G>A	NM_016599.5	NP_057683.1:p.(Gln13=)	NC_000004.11:g.120057719G>A	(Likely) benign	3 labs	a95e541857
5:67591092 PIK3R1 G>A	5	67591092	67591092	G	A	PIK3R1	c.1685G>A	NM_181523.2	NP_852664.1:p.(Arg562His)	NC_000005.9:g.67591092G>A	VUS	2 labs	a96094a922
2:48027130 MSH6 G>A	2	48027130	48027130	G	A	MSH6	c.2008G>A	NM_000179.2	NP_000170.1:p.(Gly670Arg)	NC_000002.11:g.48027130G>A	(Likely) benign	2 labs	a966157f7f
18:2934454 LPIN2 TA>T	18	2934454	2934464	TA	T	LPIN2	c.1169-7del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2934464del	(Likely) benign	3 labs	a967592e7a
21:45941766 TSPEAR C>T	21	45941766	45941766	C	T	TSPEAR	c.1362G>A	NM_001272037.1	NP_001258966.1:p.(Pro454=)	NC_000021.8:g.45941766C>T	VUS	2 labs	a9686f3de7
12:22089561 ABCC9 G>A	12	22089561	22089561	G	A	ABCC9	c.48C>T	NM_020297.4	NP_064693.2:p.(Asn16=)	NC_000012.11:g.22089561G>A	(Likely) benign	3 labs	a978e686b8
4:16008270 PROM1 C>T	4	16008270	16008270	C	T	PROM1	c.1318G>A	NM_001145847.1	NP_001139319.1:p.(Val440Met)	NC_000004.11:g.16008270C>T	(Likely) benign	2 labs	a97b68e49a
2:74077556 STAMBP G>T	2	74077556	74077556	G	T	STAMBP	c.921G>T	NM_213622.4	NP_998787.1:p.(Gly307=)	NC_000002.11:g.74077556G>T	(Likely) benign	2 labs	a976b5b23f
1:26385068 TRIM63 G>A	1	26385068	26385068	G	A	TRIM63	c.644C>T	NM_032588.3	NP_115977.2:p.(Thr215Met)	NC_000001.10:g.26385068G>A	(Likely) benign	2 labs	a985a26298
6:152658062 SYNE1 C>G	6	152658062	152658062	C	G	SYNE1	c.12442G>C	NM_182961.3	NP_892006.3:p.(Asp4148His)	NC_000006.11:g.152658062C>G	(Likely) benign	2 labs	a986c9bd1a
X:49099873 CCDC22 G>A	X	49099873	49099873	G	A	CCDC22	c.659G>A	NM_014008.4	NP_054727.1:p.(Arg220Gln)	NC_000023.10:g.49099873G>A	(Likely) benign	2 labs	a988138c5b
1:156132762 SEMA4A G>A	1	156132762	156132762	G	A	SEMA4A	c.1011G>A	NM_022367.4	NP_071762.2:p.(Ala337=)	NC_000001.10:g.156132762G>A	(Likely) benign	2 labs	a9891d2c25
11:1268963 MUC5B G>A	11	1268963	1268963	G	A	MUC5B	c.10853G>A	NM_002458.3	NP_002449.2:p.(Arg3618His)	NC_000011.9:g.1268963G>A	(Likely) benign	2 labs	a98bd19507
15:62212770 VPS13C T>C	15	62212770	62212770	T	C	VPS13C	c.7139A>G	NM_001018088.2	NP_001018098.1:p.(His2380Arg)	NC_000015.9:g.62212770T>C	(Likely) benign	2 labs	a9981b7947
5:128796881 ADAMTS19 A>C	5	128796881	128796881	A	C	ADAMTS19	c.178A>C	NM_133638.4	NP_598377.4:p.(Ser60Arg)	NC_000005.9:g.128796881A>C	VUS	2 labs	a99a09879c
X:63410075 AMER1 C>T	X	63410075	63410075	C	T	AMER1	c.3092G>A	NM_152424.4	NP_689637.3:p.(Gly1031Asp)	NC_000023.10:g.63410075C>T	(Likely) benign	2 labs	a9a3f17689
X:119562423 LAMP2 C>G	X	119562423	119562423	C	G	LAMP2	c.1152G>C	NM_001122606.1	NP_001116078.1:p.(Val384=)	NC_000023.10:g.119562423C>G	(Likely) benign	2 labs	a99f5981e6
12:6439013 TNFRSF1A C>T	12	6439013	6439013	C	T	TNFRSF1A	c.529G>A	NM_001346092.1	NP_001333021.1:p.(Ala177Thr)	NC_000012.11:g.6439013C>T	(Likely) benign	2 labs	a9a42b0d86
9:139418260 NOTCH1 A>G	9	139418260	139418260	A	G	NOTCH1	c.312T>C	NM_017617.5	NP_060087.3:p.(Asn104=)	NC_000009.11:g.139418260A>G	(Likely) benign	4 labs	a9a4e44b6b
X:153594583 FLNA G>A	X	153594583	153594583	G	A	FLNA	c.1238C>T	NM_001456.4	NP_001447.2:p.(Thr413Met)	NC_000023.10:g.153594583G>A	(Likely) benign	2 labs	a9b0eb63e5
3:184072081 CLCN2 G>A	3	184072081	184072081	G	A	CLCN2	c.1529C>T	NM_004366.5	NP_004357.3:p.(Ala510Val)	NC_000003.11:g.184072081G>A	VUS	2 labs	a9b1c7a99a
2:170092467 LRP2 G>A	2	170092467	170092467	G	A	LRP2	c.4803C>T	NM_004525.3	NP_004516.2:p.(Cys1601=)	NC_000002.11:g.170092467G>A	(Likely) benign	2 labs	a9b22ea31c
6:152774868 SYNE1 G>A	6	152774868	152774868	G	A	SYNE1	c.2893-13C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152774868G>A	(Likely) benign	2 labs	a9bdcfc365
2:69420556 ANTXR1 C>T	2	69420556	69420556	C	T	ANTXR1	c.1434+9C>T	NM_032208.2	NP_115584.1:p.?	NC_000002.11:g.69420556C>T	(Likely) benign	2 labs	a9cacdf5fe
22:36661455 APOL1 C>T	22	36661455	36661455	C	T	APOL1	c.621C>T	NM_145343.2	NP_663318.1:p.(Leu207=)	NC_000022.10:g.36661455C>T	(Likely) benign	2 labs	a9cc2e55a9
15:72103874 NR2E3 A>G	15	72103874	72103874	A	G	NR2E3	c.170A>G	NM_016346.4	NP_057430.1:p.(Lys57Arg)	NC_000015.9:g.72103874A>G	VUS	3 labs	a9c9f986a1
10:88486006 LDB3 C>T	10	88486006	88486006	C	T	LDB3	c.2106C>T	NM_001171610.2	NP_001165081.1:p.(Cys702=)	NC_000010.10:g.88486006C>T	(Likely) benign	3 labs	a9d2737399
3:123426808 MYLK C>T	3	123426808	123426808	C	T	MYLK	c.2183G>A	NM_053025.4	NP_444253.3:p.(Arg728His)	NC_000003.11:g.123426808C>T	VUS	2 labs	a9d51b87a3
11:103024105 DYNC2H1 G>A	11	103024105	103024105	G	A	DYNC2H1	c.3170G>A	NM_001080463.1	NP_001073932.1:p.(Arg1057His)	NC_000011.9:g.103024105G>A	VUS	2 labs	a9d583a04c
9:133928352 LAMC3 G>A	9	133928352	133928352	G	A	LAMC3	c.1939G>A	NM_006059.3	NP_006050.3:p.(Gly647Ser)	NC_000009.11:g.133928352G>A	VUS	2 labs	a9ddcedd01
6:157100116 ARID1B AGGC>A	6	157100116	157100134	AGGC	A	ARID1B	c.1318_1320del	NM_001371656.1	NP_001358585.1:p.(Gly440del)	NC_000006.11:g.157100132_157100134del	(Likely) benign	3 labs	a9dc1328a0
20:43252833 ADA C>T	20	43252833	43252833	C	T	ADA	c.606+10G>A	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43252833C>T	(Likely) benign	2 labs	a9e5629454
2:219679662 CYP27A1 C>A	2	219679662	219679662	C	A	CYP27A1	c.1505C>A	NM_000784.4	NP_000775.1:p.(Ala502Asp)	NC_000002.11:g.219679662C>A	(Likely) benign	2 labs	a9e27d7545
X:153138131 L1CAM G>A	X	153138131	153138131	G	A	L1CAM	c.113C>T	NM_001278116.1	NP_001265045.1:p.(Thr38Met)	NC_000023.10:g.153138131G>A	(Likely) benign	2 labs	a9f8c2ebd6
16:8941598 PMM2 G>C	16	8941598	8941598	G	C	PMM2	c.657G>C	NM_000303.3	NP_000294.1:p.(Glu219Asp)	NC_000016.9:g.8941598G>C	VUS	3 labs	a9fedc8c4a
11:76873949 MYO7A C>T	11	76873949	76873949	C	T	MYO7A	c.1605C>T	NM_000260.3	NP_000251.3:p.(Asn535=)	NC_000011.9:g.76873949C>T	(Likely) benign	2 labs	a9fa4499e2
15:74476274 STRA6 C>T	15	74476274	74476274	C	T	STRA6	c.1340G>A	NM_001199042.1	NP_001185971.1:p.(Arg447Gln)	NC_000015.9:g.74476274C>T	(Likely) benign	3 labs	a9fe4bcde6
9:439376 DOCK8 G>A	9	439376	439376	G	A	DOCK8	c.5211G>A	NM_203447.3	NP_982272.2:p.(Glu1737=)	NC_000009.11:g.439376G>A	(Likely) benign	2 labs	aa083b2041
1:27107048 ARID1A A>G	1	27107048	27107048	A	G	ARID1A	c.6659A>G	NM_006015.4	NP_006006.3:p.(Asn2220Ser)	NC_000001.10:g.27107048A>G	(Likely) benign	2 labs	aa0c3efd9b
3:9974882 IL17RC A>G	3	9974882	9974882	A	G	IL17RC	c.1981A>G	NM_153461.3	NP_703191.1:p.(Ser661Gly)	NC_000003.11:g.9974882A>G	(Likely) benign	3 labs	aa1025f345
16:31477780 ARMC5 G>A	16	31477780	31477780	G	A	ARMC5	c.2474G>A	NM_001301820.1	NP_001288749.1:p.(Arg825Gln)	NC_000016.9:g.31477780G>A	VUS	2 labs	aa1bec0951
14:91747832 CCDC88C C>T	14	91747832	91747832	C	T	CCDC88C	c.4668G>A	NM_001080414.4	NP_001073883.2:p.(Leu1556=)	NC_000014.8:g.91747832C>T	(Likely) benign	2 labs	aa13b08abb
11:103124070 DYNC2H1 C>T	11	103124070	103124070	C	T	DYNC2H1	c.10120C>T	NM_001080463.1	NP_001073932.1:p.(Arg3374Cys)	NC_000011.9:g.103124070C>T	VUS	2 labs	aa2467193c
4:110670750 CFI G>A	4	110670750	110670750	G	A	CFI	c.973C>T	NM_001318057.1	NP_001304986.1:p.(Arg325Trp)	NC_000004.11:g.110670750G>A	VUS	2 labs	aa250ec568
2:27278906 AGBL5 C>G	2	27278906	27278906	C	G	AGBL5	c.1265C>G	NM_021831.5	NP_068603.4:p.(Pro422Arg)	NC_000002.11:g.27278906C>G	VUS	2 labs	aa26678ae6
17:18039887 MYO15A G>A	17	18039887	18039887	G	A	MYO15A	c.4666G>A	NM_016239.3	NP_057323.3:p.(Ala1556Thr)	NC_000017.10:g.18039887G>A	VUS	2 labs	aa28a1e1fe
6:32008783 CYP21A2 C>T	6	32008783	32008783	C	T	CYP21A2	c.1360C>T	NM_000500.9	NP_000491.4:p.(Pro454Ser)	NC_000006.11:g.32008783C>T	(Likely) pathogenic	3 labs	aa29ed307f
19:33878815 PEPD C>T	19	33878815	33878815	C	T	PEPD	c.1325G>A	NM_000285.4	NP_000276.2:p.(Arg442His)	NC_000019.9:g.33878815C>T	VUS	2 labs	aa2ecc5fc6
1:1168239 B3GALT6 C>CG	1	1168239	1168246	C	CG	B3GALT6	c.588dup	NM_080605.4	NP_542172.2:p.(Arg197AlafsTer246)	NC_000001.10:g.1168246dup	(Likely) pathogenic	2 labs	aa2a595f36
4:151792524 LRBA T>C	4	151792524	151792524	T	C	LRBA	c.2340A>G	NM_001199282.2	NP_001186211.2:p.(Thr780=)	NC_000004.11:g.151792524T>C	(Likely) benign	2 labs	aa2ac05dd6
6:30883017 VARS2 A>G	6	30883017	30883017	A	G	VARS2	c.373+3A>G	NM_001167734.1	NP_001161206.1:p.?	NC_000006.11:g.30883017A>G	(Likely) benign	2 labs	aa2f56b4ac
4:170483284 NEK1 A>G	4	170483284	170483284	A	G	NEK1	c.1080+4T>C	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170483284A>G	(Likely) benign	4 labs	aa3cb93b9f
17:8146353 CTC1 G>A	17	8146353	8146353	G	A	CTC1	c.147C>T	NM_025099.6	NP_079375.3:p.(Val49=)	NC_000017.10:g.8146353G>A	(Likely) benign	2 labs	aa37bf5499
4:110929301 EGF T>C	4	110929301	110929301	T	C	EGF	c.3292-7T>C	NM_001963.5	NP_001954.2:p.?	NC_000004.11:g.110929301T>C	(Likely) benign	2 labs	aa43251cf6
1:27100181 ARID1A C>CGCA	1	27100181	27100205	C	CGCA	ARID1A	c.3999_4001dup	NM_006015.6	NP_006006.3:p.(Gln1334dup)	NC_000001.10:g.27100203_27100205dup	(Likely) benign	3 labs	aa4777e41b
17:40828462 PLEKHH3 T>TTTCTCG	17	40828462	40828464	T	TTTCTCG	PLEKHH3	c.119_120insCGAGAA	NM_024927.5	NP_079203.4:p.(Glu40delinsAspGluLys)	NC_000017.10:g.40828463_40828464insTCTCGT	VUS	2 labs	aa4d1270e9
20:61450599 COL9A3 C>T	20	61450599	61450599	C	T	COL9A3	c.209C>T	NM_001853.4	NP_001844.3:p.(Pro70Leu)	NC_000020.10:g.61450599C>T	(Likely) benign	2 labs	aa57cf475e
8:102570905 GRHL2 G>A	8	102570905	102570905	G	A	GRHL2	c.543G>A	NM_024915.3	NP_079191.2:p.(Glu181=)	NC_000008.10:g.102570905G>A	(Likely) benign	2 labs	aa5807daa7
X:39914638 BCOR A>G	X	39914638	39914638	A	G	BCOR	c.4724T>C	NM_001123385.1	NP_001116857.1:p.(Met1575Thr)	NC_000023.10:g.39914638A>G	VUS	2 labs	aa592f315e
21:47783548 PCNT A>G	21	47783548	47783548	A	G	PCNT	c.2308A>G	NM_006031.5	NP_006022.3:p.(Met770Val)	NC_000021.8:g.47783548A>G	(Likely) benign	2 labs	aa5dd29c75
11:121491782 SORL1 G>A	11	121491782	121491782	G	A	SORL1	c.5899G>A	NM_003105.6	NP_003096.2:p.(Val1967Ile)	NC_000011.9:g.121491782G>A	(Likely) benign	2 labs	aa5ea43a33
16:2130319 TSC2 C>T	16	2130319	2130319	C	T	TSC2	c.3551C>T	NM_000548.5	NP_000539.2:p.(Ala1184Val)	NC_000016.9:g.2130319C>T	VUS	2 labs	aa69342ed3
9:130422395 STXBP1 C>T	9	130422395	130422395	C	T	STXBP1	c.325+8C>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130422395C>T	(Likely) benign	3 labs	aa76058071
19:6822243 VAV1 A>C	19	6822243	6822243	A	C	VAV1	c.461A>C	NM_005428.4	NP_005419.2:p.(Glu154Ala)	NC_000019.9:g.6822243A>C	VUS	3 labs	aa7d64b9bb
X:139586494 SOX3 T>TGCG	X	139586494	139586499	T	TGCG	SOX3	c.729_731dup	NM_005634.3	NP_005625.2:p.(Ala248dup)	NC_000023.10:g.139586497_139586499dup	VUS	2 labs	aa7ecd904c
16:3779329 CREBBP C>T	16	3779329	3779329	C	T	CREBBP	c.5719G>A	NM_004380.3	NP_004371.2:p.(Ala1907Thr)	NC_000016.9:g.3779329C>T	(Likely) benign	4 labs	aa90f5bab0
10:69407205 CTNNA3 C>T	10	69407205	69407205	C	T	CTNNA3	c.67G>A	NM_013266.3	NP_037398.2:p.(Val23Met)	NC_000010.10:g.69407205C>T	VUS	3 labs	aa93982855
1:237604756 RYR2 C>T	1	237604756	237604756	C	T	RYR2	c.1143C>T	NM_001035.3	NP_001026.2:p.(Ser381=)	NC_000001.10:g.237604756C>T	(Likely) benign	2 labs	aaa6faba4b
18:43481063 EPG5 G>A	18	43481063	43481063	G	A	EPG5	c.4544C>T	NM_020964.3	NP_066015.2:p.(Thr1515Met)	NC_000018.9:g.43481063G>A	(Likely) benign	2 labs	aaa57cbbed
17:41243727 BRCA1 A>AC	17	41243727	41243729	A	AC	BRCA1	c.3820dup	NM_007294.4	NP_009225.1:p.(Val1274GlyfsTer13)	NC_000017.10:g.41243729dup	(Likely) pathogenic	5 labs	aabe9dd4d4
15:85188694 WDR73 G>A	15	85188694	85188694	G	A	WDR73	c.883+8C>T	NM_032856.3	NP_116245.2:p.?	NC_000015.9:g.85188694G>A	(Likely) benign	2 labs	aabe7c533b
X:19613095 SH3KBP1 T>G	X	19613095	19613095	T	G	SH3KBP1	c.1029A>C	NM_031892.3	NP_114098.1:p.(Pro343=)	NC_000023.10:g.19613095T>G	(Likely) benign	2 labs	aabc8cd393
5:112102942 APC C>G	5	112102942	112102942	C	G	APC				NC_000005.9:g.112102942C>G	(Likely) benign	2 labs	aac52da547
8:145638753 SLC39A4 T>C	8	145638753	145638753	T	C	SLC39A4	c.1A>G	NM_001280557.1	NP_001267486.1:p.(Met1?)	NC_000008.10:g.145638753T>C	(Likely) benign	2 labs	aac94e939f
7:103417081 RELN A>G	7	103417081	103417081	A	G	RELN	c.474-7T>C	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103417081A>G	(Likely) benign	2 labs	aaca761c57
5:90002181 ADGRV1 A>T	5	90002181	90002181	A	T	ADGRV1	c.8700A>T	NM_032119.4	NP_115495.3:p.(Thr2900=)	NC_000005.9:g.90002181A>T	(Likely) benign	2 labs	aac761e579
15:101109598 LINS1 C>T	15	101109598	101109598	C	T	LINS1	c.2119G>A	NM_001040616.2	NP_001035706.1:p.(Gly707Arg)	NC_000015.9:g.101109598C>T	(Likely) benign	2 labs	aad2d8f2cf
1:31409634 PUM1 A>G	1	31409634	31409634	A	G	PUM1	c.3291T>C	NM_001020658.2	NP_001018494.1:p.(Ala1097=)	NC_000001.10:g.31409634A>G	(Likely) benign	2 labs	aad1429be0
6:71004106 COL9A1 C>G	6	71004106	71004106	C	G	COL9A1	c.460G>C	NM_001851.6	NP_001842.3:p.(Val154Leu)	NC_000006.11:g.71004106C>G	(Likely) benign	2 labs	aade8774a5
11:94204767 MRE11 G>C	11	94204767	94204767	G	C	MRE11	c.818C>G	NM_005591.3	NP_005582.1:p.(Ser273Cys)	NC_000011.9:g.94204767G>C	VUS	2 labs	aafe8956ef
12:2786965 CACNA1C G>A	12	2786965	2786965	G	A	CACNA1C	c.5167G>A	NM_199460.3	NP_955630.3:p.(Ala1723Thr)	NC_000012.11:g.2786965G>A	(Likely) benign	3 labs	ab02fddc60
8:61766059 CHD7 G>A	8	61766059	61766059	G	A	CHD7				NC_000008.10:g.61766059G>A	(Likely) benign	2 labs	ab06f728c0
12:49428694 KMT2D T>C	12	49428694	49428694	T	C	KMT2D	c.10256A>G	NM_003482.4	NP_003473.3:p.(Asp3419Gly)	NC_000012.11:g.49428694T>C	(Likely) benign	4 labs	ab0f5d5d1c
11:6415690 SMPD1 G>A	11	6415690	6415690	G	A	SMPD1	c.1749G>A	NM_000543.4	NP_000534.3:p.(Ser583=)	NC_000011.9:g.6415690G>A	(Likely) benign	2 labs	ab0f7718f9
16:14540827 PARN G>A	16	14540827	14540827	G	A	PARN	c.1782C>T	NM_002582.4	NP_002573.1:p.(Thr594=)	NC_000016.9:g.14540827G>A	(Likely) benign	2 labs	ab1a4155a5
10:50732330 ERCC6 C>T	10	50732330	50732330	C	T	ERCC6	c.1146G>A	NM_000124.2	NP_000115.1:p.(Glu382=)	NC_000010.10:g.50732330C>T	(Likely) benign	2 labs	ab1d1aeef7
2:136562454 LCT A>G	2	136562454	136562454	A	G	LCT	c.4347T>C	NM_002299.2	NP_002290.2:p.(Phe1449=)	NC_000002.11:g.136562454A>G	(Likely) benign	2 labs	ab1f1fd140
3:197680967 RPL35A C>A	3	197680967	197680967	C	A	RPL35A	c.258C>A	NM_000996.4	NP_000987.2:p.(Ala86=)	NC_000003.11:g.197680967C>A	(Likely) benign	2 labs	ab24a31981
10:112590938 RBM20 C>A	10	112590938	112590938	C	A	RBM20	c.3571C>A	NM_001134363.3	NP_001127835.2:p.(Gln1191Lys)	NC_000010.10:g.112590938C>A	VUS	2 labs	ab26889c25
3:123471344 MYLK G>A	3	123471344	123471344	G	A	MYLK	c.207C>T	NM_053025.4	NP_444253.3:p.(Asn69=)	NC_000003.11:g.123471344G>A	(Likely) benign	2 labs	ab269f19ac
6:7581641 DSP G>A	6	7581641	7581641	G	A	DSP	c.5218G>A	NM_004415.4	NP_004406.2:p.(Glu1740Lys)	NC_000006.11:g.7581641G>A	(Likely) benign	6 labs	ab333c0ce6
11:103047080 DYNC2H1 T>A	11	103047080	103047080	T	A	DYNC2H1	c.5791T>A	NM_001080463.1	NP_001073932.1:p.(Leu1931Met)	NC_000011.9:g.103047080T>A	VUS	2 labs	ab385b08de
11:118379865 KMT2A T>C	11	118379865	118379865	T	C	KMT2A	c.10850T>C	NM_001197104.1	NP_001184033.1:p.(Leu3617Pro)	NC_000011.9:g.118379865T>C	(Likely) benign	3 labs	ab414cb7ab
5:149754312 TCOF1 C>T	5	149754312	149754312	C	T	TCOF1	c.1216C>T	NM_001135243.1	NP_001128715.1:p.(Arg406Trp)	NC_000005.9:g.149754312C>T	(Likely) benign	2 labs	ab455ff571
22:29885567 NEFH A>AAAGTCCCCTGAGAAGGCC	22	29885567	29885593	A	AAAGTCCCCTGAGAAGGCC	NEFH	c.1947_1964dup	NM_021076.4	NP_066554.2:p.(Ala652_Lys657dup)	NC_000022.10:g.29885576_29885593dup	(Likely) benign	2 labs	ab3dc1159a
2:179393650 TTN T>C	2	179393650	179393650	T	C	TTN	c.106828A>G	NM_001267550.2	NP_001254479.2:p.(Lys35610Glu)	NC_000002.11:g.179393650T>C	VUS	4 labs	ab4b2a4ed8
12:1989024 CACNA2D4 G>A	12	1989024	1989024	G	A	CACNA2D4	c.1509C>T	NM_172364.5	NP_758952.4:p.(Ser503=)	NC_000012.11:g.1989024G>A	(Likely) benign	2 labs	ab542c3bdf
4:68619638 GNRHR C>T	4	68619638	68619638	C	T	GNRHR	c.416G>A	NM_000406.2	NP_000397.1:p.(Arg139His)	NC_000004.11:g.68619638C>T	(Likely) pathogenic	2 labs	ab604b2f3e
5:176719140 NSD1 T>C	5	176719140	176719140	T	C	NSD1	c.6444T>C	NM_022455.4	NP_071900.2:p.(Asn2148=)	NC_000005.9:g.176719140T>C	(Likely) benign	2 labs	ab7e7a1a44
7:117180284 CFTR C>T	7	117180284	117180284	C	T	CFTR	c.1000C>T	NM_000492.4	NP_000483.3:p.(Arg334Trp)	NC_000007.13:g.117180284C>T	(Likely) pathogenic	3 labs	ab96d6354a
3:196214299 RNF168 C>T	3	196214299	196214299	C	T	RNF168	c.529G>A	NM_152617.4	NP_689830.2:p.(Glu177Lys)	NC_000003.11:g.196214299C>T	(Likely) benign	3 labs	ab9a85b140
2:224702157 AP1S3 G>T	2	224702157	224702157	G	T	AP1S3	c.3+8C>A	NM_001039569.1	NP_001034658.1:p.?	NC_000002.11:g.224702157G>T	(Likely) benign	2 labs	aba0d24e61
5:112174631 APC C>T	5	112174631	112174631	C	T	APC				NC_000005.9:g.112174631C>T	(Likely) pathogenic	2 labs	abb7219a8c
19:10292756 DNMT1 G>A	19	10292756	10292756	G	A	DNMT1	c.81-3C>T	NM_001379.3	NP_001370.1:p.?	NC_000019.9:g.10292756G>A	(Likely) benign	2 labs	abb7f0731e
17:41258450 BRCA1 A>T	17	41258450	41258450	A	T	BRCA1	c.212+23T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258450A>T	(Likely) benign	3 labs	abb850e282
1:198719615 PTPRC A>G	1	198719615	198719615	A	G	PTPRC	c.3073-6A>G	NM_002838.4	NP_002829.3:p.?	NC_000001.10:g.198719615A>G	(Likely) benign	2 labs	abb9b40a3c
10:26491987 MYO3A C>T	10	26491987	26491987	C	T	MYO3A	c.4681C>T	NM_017433.5	NP_059129.3:p.(Arg1561Ter)	NC_000010.10:g.26491987C>T	(Likely) pathogenic	2 labs	abbb4ec9d3
2:172291650 DCAF17 G>A	2	172291650	172291650	G	A	DCAF17	c.184G>A	NM_025000.3	NP_079276.2:p.(Glu62Lys)	NC_000002.11:g.172291650G>A	VUS	2 labs	abbc2a672d
22:21344693 LZTR1 A>AT	22	21344693	21344694	A	AT	LZTR1	c.671dup	NM_006767.3	NP_006758.2:p.(Ser227IlefsTer33)	NC_000022.10:g.21344694dup	(Likely) pathogenic	3 labs	abbf7dbfe8
2:220283591 DES T>C	2	220283591	220283591	T	C	DES	c.407T>C	NM_001927.3	NP_001918.3:p.(Leu136Pro)	NC_000002.11:g.220283591T>C	(Likely) pathogenic	2 labs	abc7c6bbeb
20:31023789 ASXL1 G>A	20	31023789	31023789	G	A	ASXL1	c.3274G>A	NM_015338.5	NP_056153.2:p.(Val1092Met)	NC_000020.10:g.31023789G>A	(Likely) benign	2 labs	abd457696f
X:149638450 MAMLD1 C>T	X	149638450	149638450	C	T	MAMLD1	c.605C>T	NM_005491.4	NP_005482.2:p.(Thr202Met)	NC_000023.10:g.149638450C>T	(Likely) benign	2 labs	abdb7ff6b1
18:29101120 DSG2 G>A	18	29101120	29101120	G	A	DSG2	c.437G>A	NM_001943.3	NP_001934.2:p.(Arg146His)	NC_000018.9:g.29101120G>A	(Likely) benign	2 labs	abe39c1d62
19:22940490 ZNF99 CT>C	19	22940490	22940493	CT	C	ZNF99	c.2220del	NM_001080409.3	NP_001073878.2:p.(Ala741LeufsTer13)	NC_000019.9:g.22940493del	VUS	2 labs	abe7a1a52c
7:4823992 AP5Z1 C>A	7	4823992	4823992	C	A	AP5Z1	c.780C>A	NM_014855.3	NP_055670.1:p.(Thr260=)	NC_000007.13:g.4823992C>A	(Likely) benign	3 labs	abef387264
4:79410216 FRAS1 A>G	4	79410216	79410216	A	G	FRAS1	c.8940A>G	NM_025074.7	NP_079350.5:p.(Thr2980=)	NC_000004.11:g.79410216A>G	(Likely) benign	2 labs	abf6ec8b6b
19:18980213 GDF1 A>G	19	18980213	18980213	A	G	GDF1	c.326-14T>C	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18980213A>G	(Likely) benign	4 labs	abfc1561c5
2:44539790 SLC3A1 C>T	2	44539790	44539790	C	T	SLC3A1	c.1398C>T	NM_000341.3	NP_000332.2:p.(Asn466=)	NC_000002.11:g.44539790C>T	(Likely) benign	2 labs	abff16be10
17:44074018 MAPT G>A	17	44074018	44074018	G	A	MAPT	c.1815G>A	NM_001123066.4	NP_001116538.2:p.(Pro605=)	NC_000017.10:g.44074018G>A	(Likely) benign	3 labs	ac01286db7
15:63354009 TPM1 G>C	15	63354009	63354009	G	C	TPM1	c.639+22G>C	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63354009G>C	(Likely) benign	2 labs	ac0129d3ac
6:18122806 NHLRC1 G>T	6	18122806	18122806	G	T	NHLRC1	c.32C>A	NM_198586.2	NP_940988.2:p.(Ala11Glu)	NC_000006.11:g.18122806G>T	(Likely) benign	2 labs	ac0441a813
21:47766840 PCNT G>A	21	47766840	47766840	G	A	PCNT	c.904G>A	NM_006031.5	NP_006022.3:p.(Glu302Lys)	NC_000021.8:g.47766840G>A	(Likely) benign	2 labs	ac05ff5319
14:21161931 ANG A>G	14	21161931	21161931	A	G	ANG	c.208A>G	NM_001145.4	NP_001136.1:p.(Ile70Val)	NC_000014.8:g.21161931A>G	(Likely) benign	2 labs	ac072d5e0d
3:123452710 MYLK C>T	3	123452710	123452710	C	T	MYLK	c.1133G>A	NM_053025.3	NP_444253.3:p.(Arg378His)	NC_000003.11:g.123452710C>T	(Likely) benign	2 labs	ac0b5fa462
4:2828987 SH3BP2 C>T	4	2828987	2828987	C	T	SH3BP2	c.543C>T	NM_001145855.2	NP_001139327.1:p.(Tyr181=)	NC_000004.11:g.2828987C>T	(Likely) benign	2 labs	ac1276ba80
5:13714740 DNAH5 G>A	5	13714740	13714740	G	A	DNAH5	c.12910-11C>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13714740G>A	(Likely) benign	2 labs	ac1c9fa81d
14:64687258 SYNE2 A>T	14	64687258	64687258	A	T	SYNE2	c.19964A>T	NM_182914.2	NP_878918.2:p.(Gln6655Leu)	NC_000014.8:g.64687258A>T	(Likely) benign	3 labs	ac1bd23852
1:22446702 WNT4 C>A	1	22446702	22446702	C	A	WNT4	c.897G>T	NM_030761.5	NP_110388.2:p.(Thr299=)	NC_000001.10:g.22446702C>A	(Likely) benign	2 labs	ac1a2242a9
5:140953563 DIAPH1 TGGAGGAGGA>T	5	140953563	140953597	TGGAGGAGGA	T	DIAPH1	c.1845_1853del	NM_005219.5	NP_005210.3:p.(Pro618_Pro620del)	NC_000005.9:g.140953589_140953597del	VUS	2 labs	ac29fe654b
19:42406190 ARHGEF1 GCAGAGCCAGGGTCCCTCTGTGTACCCCACTGCCCCA>G	19	42406190	42406227	GCAGAGCCAGGGTCCCTCTGTGTACCCCACTGCCCCA	G	ARHGEF1	c.1414+9_1414+44del	NM_004706.4	NP_004697.2:p.?	NC_000019.9:g.42406192_42406227del	(Likely) benign	2 labs	ac321ee76c
2:179454274 TTN A>G	2	179454274	179454274	A	G	TTN	c.62178T>C	NM_001267550.2	NP_001254479.2:p.(Thr20726=)	NC_000002.11:g.179454274A>G	(Likely) benign	5 labs	ac360854ce
X:47062404 UBA1 C>T	X	47062404	47062404	C	T	UBA1	c.1296C>T	NM_003334.4	NP_003325.2:p.(Leu432=)	NC_000023.10:g.47062404C>T	(Likely) benign	2 labs	ac396e82a6
5:14378113 TRIO T>C	5	14378113	14378113	T	C	TRIO	c.3332-8T>C	NM_007118.3	NP_009049.2:p.?	NC_000005.9:g.14378113T>C	(Likely) benign	2 labs	ac3a4e2afd
2:179408730 TTN C>T	2	179408730	179408730	C	T	TTN	c.96141G>A	NM_001267550.1	NP_001254479.1:p.(Thr32047=)	NC_000002.11:g.179408730C>T	(Likely) benign	2 labs	ac3fbd93af
5:156672741 ITK C>T	5	156672741	156672741	C	T	ITK	c.1455C>T	NM_005546.3	NP_005537.3:p.(Ala485=)	NC_000005.9:g.156672741C>T	(Likely) benign	2 labs	ac3fd3f1f1
4:110772765 LRIT3 G>A	4	110772765	110772765	G	A	LRIT3	c.222G>A	NM_198506.5	NP_940908.3:p.(Ala74=)	NC_000004.11:g.110772765G>A	(Likely) benign	2 labs	ac488b877d
16:14031664 ERCC4 G>A	16	14031664	14031664	G	A	ERCC4	c.1853G>A	NM_005236.2	NP_005227.1:p.(Arg618His)	NC_000016.9:g.14031664G>A	VUS	2 labs	ac564ae409
17:41246467 BRCA1 A>C	17	41246467	41246467	A	C	BRCA1	c.1081T>G	NM_007294.3	NP_009225.1:p.(Ser361Ala)	NC_000017.10:g.41246467A>C	(Likely) benign	2 labs	ac5ad1dafd
X:31227655 DMD C>T	X	31227655	31227655	C	T	DMD	c.9154G>A	NM_004010.3	NP_004001.1:p.(Val3052Met)	NC_000023.10:g.31227655C>T	VUS	3 labs	ac5b47b7b1
3:183855693 EIF2B5 C>T	3	183855693	183855693	C	T	EIF2B5	c.514C>T	NM_003907.3	NP_003898.2:p.(Arg172Trp)	NC_000003.11:g.183855693C>T	VUS	2 labs	ac60905c9c
19:45858009 ERCC2 G>A	19	45858009	45858009	G	A	ERCC2	c.1644C>T	NM_000400.4	NP_000391.1:p.(Thr548=)	NC_000019.9:g.45858009G>A	(Likely) benign	2 labs	ac62af715d
19:6828453 VAV1 G>A	19	6828453	6828453	G	A	VAV1	c.1047G>A	NM_005428.4	NP_005419.2:p.(Glu349=)	NC_000019.9:g.6828453G>A	(Likely) benign	2 labs	ac64614d25
11:76873195 MYO7A A>T	11	76873195	76873195	A	T	MYO7A	c.1373A>T	NM_000260.3	NP_000251.3:p.(Asn458Ile)	NC_000011.9:g.76873195A>T	(Likely) pathogenic	2 labs	ac68a7215f
2:179436241 TTN A>C	2	179436241	179436241	A	C	TTN	c.74618T>G	NM_001267550.1	NP_001254479.1:p.(Leu24873Arg)	NC_000002.11:g.179436241A>C	VUS	2 labs	ac74da6768
3:123452508 MYLK C>T	3	123452508	123452508	C	T	MYLK	c.1309+26G>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123452508C>T	(Likely) benign	2 labs	ac751dcc0f
12:52188409 SCN8A C>T	12	52188409	52188409	C	T	SCN8A	c.4779C>T	NM_014191.3	NP_055006.1:p.(Val1593=)	NC_000012.11:g.52188409C>T	(Likely) benign	2 labs	ac7e6a6eed
17:54912285 DGKE G>A	17	54912285	54912285	G	A	DGKE	c.129G>A	NM_003647.2	NP_003638.1:p.(Gln43=)	NC_000017.10:g.54912285G>A	(Likely) benign	2 labs	ac91b915b7
17:41245422 BRCA1 A>AT	17	41245422	41245423	A	AT	BRCA1	c.2125_2126insA	NM_007294.3	NP_009225.1:p.(Phe709TyrfsTer3)	NC_000017.10:g.41245422_41245423insT	(Likely) pathogenic	2 labs	ac935e4cb2
18:44109144 LOXHD1 C>T	18	44109144	44109144	C	T	LOXHD1	c.4526G>A	NM_144612.6	NP_653213.6:p.(Gly1509Glu)	NC_000018.9:g.44109144C>T	(Likely) benign	3 labs	ac97f83752
15:40912913 KNL1 A>G	15	40912913	40912913	A	G	KNL1	c.529A>G	NM_170589.4	NP_733468.3:p.(Met177Val)	NC_000015.9:g.40912913A>G	(Likely) benign	3 labs	ac989d07bb
3:186969523 MASP1 G>T	3	186969523	186969523	G	T	MASP1	c.910C>A	NM_001879.5	NP_001870.3:p.(Leu304Ile)	NC_000003.11:g.186969523G>T	(Likely) benign	2 labs	ac9d5c16d1
7:87072677 ABCB4 C>T	7	87072677	87072677	C	T	ABCB4	c.1314G>A	NM_018849.2	NP_061337.1:p.(Thr438=)	NC_000007.13:g.87072677C>T	(Likely) benign	2 labs	ac9e752525
15:48729990 FBN1 G>A	15	48729990	48729990	G	A	FBN1	c.6288C>T	NM_000138.4	NP_000129.3:p.(Cys2096=)	NC_000015.9:g.48729990G>A	(Likely) benign	2 labs	aca0b9ccb6
15:63356439 TPM1 C>CA	15	63356439	63356440	C	CA	TPM1	c.851+99dup	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63356440dup	(Likely) benign	2 labs	aca221b20d
1:3347557 PRDM16 G>A	1	3347557	3347557	G	A	PRDM16	c.3406G>A	NM_022114.4	NP_071397.3:p.(Gly1136Arg)	NC_000001.10:g.3347557G>A	VUS	5 labs	aca8181f10
5:78135241 ARSB C>T	5	78135241	78135241	C	T	ARSB	c.1151G>A	NM_000046.5	NP_000037.2:p.(Ser384Asn)	NC_000005.9:g.78135241C>T	(Likely) benign	2 labs	aca83c6c96
17:4927045 KIF1C C>T	17	4927045	4927045	C	T	KIF1C	c.2911C>T	NM_006612.5	NP_006603.2:p.(Pro971Ser)	NC_000017.10:g.4927045C>T	VUS	2 labs	acae76c7f9
2:179428474 TTN G>A	2	179428474	179428474	G	A	TTN	c.74681C>T	NM_133378.4	NP_596869.4:p.(Thr24894Met)	NC_000002.11:g.179428474G>A	VUS	2 labs	acb71037b7
8:145623184 CPSF1 C>A	8	145623184	145623184	C	A	CPSF1	c.2058G>T	NM_013291.3	NP_037423.2:p.(Lys686Asn)	NC_000008.10:g.145623184C>A	VUS	2 labs	acc0155da6
2:179406161 TTN C>T	2	179406161	179406161	C	T	TTN	c.97643G>A	NM_001267550.1	NP_001254479.1:p.(Arg32548His)	NC_000002.11:g.179406161C>T	VUS	3 labs	acc27e6bee
17:29664835 NF1 A>G	17	29664835	29664835	A	G	NF1	c.6580-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664835A>G	(Likely) pathogenic	2 labs	acc8218417
7:21781702 DNAH11 A>G	7	21781702	21781702	A	G	DNAH11				NC_000007.13:g.21781702A>G	VUS	2 labs	acca706e1d
12:4387969 CCND2 C>A	12	4387969	4387969	C	A	CCND2	c.455C>A	NM_001759.4	NP_001750.1:p.(Ala152Glu)	NC_000012.11:g.4387969C>A	VUS	2 labs	acd4b547ae
1:216062306 USH2A A>G	1	216062306	216062306	A	G	USH2A	c.7685T>C	NM_206933.2	NP_996816.2:p.(Val2562Ala)	NC_000001.10:g.216062306A>G	(Likely) benign	2 labs	acd51dea51
2:223084914 PAX3 G>A	2	223084914	223084914	G	A	PAX3	c.1118C>T	NM_181458.3	NP_852123.1:p.(Pro373Leu)	NC_000002.11:g.223084914G>A	(Likely) benign	2 labs	acd6f8bfdb
3:37055922 MLH1 G>A	3	37055922	37055922	G	A	MLH1	c.678-1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37055922G>A	(Likely) pathogenic	2 labs	acd93ded4d
4:15539638 CC2D2A G>A	4	15539638	15539638	G	A	CC2D2A	c.1881G>A	NM_001080522.2	NP_001073991.2:p.(Arg627=)	NC_000004.11:g.15539638G>A	(Likely) benign	2 labs	acd26f77b5
2:228564010 SLC19A3 C>T	2	228564010	228564010	C	T	SLC19A3	c.421G>A	NM_025243.4	NP_079519.1:p.(Gly141Ser)	NC_000002.11:g.228564010C>T	(Likely) benign	3 labs	ace374f18b
8:94767262 TMEM67 T>C	8	94767262	94767262	T	C	TMEM67	c.120T>C	NM_153704.6	NP_714915.3:p.(Ser40=)	NC_000008.10:g.94767262T>C	(Likely) benign	2 labs	acdf827b16
2:241697866 KIF1A C>A	2	241697866	241697866	C	A	KIF1A	c.2493G>T	NM_001244008.1	NP_001230937.1:p.(Val831=)	NC_000002.11:g.241697866C>A	(Likely) benign	2 labs	ace68207f1
16:2547034 TBC1D24 C>G	16	2547034	2547034	C	G	TBC1D24	c.885C>G	NM_001199107.2	NP_001186036.1:p.(Phe295Leu)	NC_000016.9:g.2547034C>G	(Likely) benign	3 labs	acebf7342a
2:163144694 IFIH1 T>C	2	163144694	163144694	T	C	IFIH1	c.1046A>G	NM_022168.4	NP_071451.2:p.(Lys349Arg)	NC_000002.11:g.163144694T>C	(Likely) benign	3 labs	acfafdf0e8
15:91358327 BLM T>C	15	91358327	91358327	T	C	BLM	c.2952-5T>C	NM_001287248.1	NP_001274177.1:p.?	NC_000015.9:g.91358327T>C	(Likely) benign	2 labs	ad0b0b8059
8:61736496 CHD7 G>A	8	61736496	61736496	G	A	CHD7	c.3299G>A	NM_017780.4	NP_060250.2:p.(Arg1100His)	NC_000008.10:g.61736496G>A	VUS	2 labs	ad102d1ae7
13:23905253 SACS G>A	13	23905253	23905253	G	A	SACS	c.12762C>T	NM_014363.5	NP_055178.3:p.(Ser4254=)	NC_000013.10:g.23905253G>A	(Likely) benign	2 labs	ad11655c20
11:94153326 MRE11 T>C	11	94153326	94153326	T	C	MRE11	c.2089A>G	NM_001330347.1	NP_001317276.1:p.(Met697Val)	NC_000011.9:g.94153326T>C	(Likely) benign	2 labs	ad1909373a
11:103052558 DYNC2H1 T>C	11	103052558	103052558	T	C	DYNC2H1	c.6420T>C	NM_001080463.1	NP_001073932.1:p.(Asn2140=)	NC_000011.9:g.103052558T>C	(Likely) benign	2 labs	ad2763d68c
18:52928721 TCF4 A>G	18	52928721	52928721	A	G	TCF4	c.966T>C	NM_001083962.1	NP_001077431.1:p.(Asp322=)	NC_000018.9:g.52928721A>G	(Likely) benign	2 labs	ad3414055c
1:230845901 AGT A>G	1	230845901	230845901	A	G	AGT	c.696T>C	NM_000029.3	NP_000020.1:p.(Pro232=)	NC_000001.10:g.230845901A>G	(Likely) benign	2 labs	ad3bd43715
7:75608875 POR C>T	7	75608875	75608875	C	T	POR	c.344C>T	NM_000941.2	NP_000932.3:p.(Ala115Val)	NC_000007.13:g.75608875C>T	VUS	2 labs	ad4ec70ae5
2:219677417 CYP27A1 C>T	2	219677417	219677417	C	T	CYP27A1	c.789C>T	NM_000784.4	NP_000775.1:p.(Pro263=)	NC_000002.11:g.219677417C>T	(Likely) benign	3 labs	ad5c382afc
18:7014032 LAMA1 C>T	18	7014032	7014032	C	T	LAMA1	c.3145G>A	NM_005559.3	NP_005550.2:p.(Val1049Met)	NC_000018.9:g.7014032C>T	(Likely) benign	2 labs	ad64d17cdb
16:2140148 PKD1 G>A	16	2140148	2140148	G	A	PKD1	c.12492C>T	NM_001009944.2	NP_001009944.2:p.(Arg4164=)	NC_000016.9:g.2140148G>A	(Likely) benign	3 labs	ad670f3871
12:2791722 CACNA1C C>T	12	2791722	2791722	C	T	CACNA1C	c.5700C>T	NM_199460.4	NP_955630.3:p.(His1900=)	NC_000012.11:g.2791722C>T	(Likely) benign	2 labs	ad679fdd30
14:105420590 AHNAK2 C>T	14	105420590	105420590	C	T	AHNAK2	c.1198G>A	NM_138420.3	NP_612429.2:p.(Gly400Ser)	NC_000014.8:g.105420590C>T	(Likely) benign	2 labs	ad73da0f77
14:76425539 TGFB3 T>C	14	76425539	76425539	T	C	TGFB3	c.1230A>G	NM_003239.5	NP_003230.1:p.(Lys410=)	NC_000014.8:g.76425539T>C	(Likely) benign	2 labs	ad8086f6e7
8:94767167 TMEM67 G>A	8	94767167	94767167	G	A	TMEM67	c.25G>A	NM_153704.5	NP_714915.3:p.(Val9Met)	NC_000008.10:g.94767167G>A	(Likely) benign	2 labs	ad88ef2779
X:55039960 ALAS2 G>A	X	55039960	55039960	G	A	ALAS2	c.1559C>T	NM_000032.5	NP_000023.2:p.(Pro520Leu)	NC_000023.10:g.55039960G>A	(Likely) benign	3 labs	ad8fa4640e
15:48726813 FBN1 G>A	15	48726813	48726813	G	A	FBN1	c.6594C>T	NM_000138.5	NP_000129.3:p.(Pro2198=)	NC_000015.9:g.48726813G>A	(Likely) benign	3 labs	ad91d5db9f
17:73513072 TSEN54 C>T	17	73513072	73513072	C	T	TSEN54	c.222-18C>T	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73513072C>T	(Likely) benign	2 labs	ad9a1a5d7e
X:2867732 ARSL C>T	X	2867732	2867732	C	T	ARSL	c.542G>A	NM_001282628.2	NP_001269557.1:p.(Ser181Asn)	NC_000023.10:g.2867732C>T	(Likely) benign	3 labs	ad9cb5376e
13:52598272 ALG11 C>T	13	52598272	52598272	C	T	ALG11	c.406C>T	NM_001004127.2	NP_001004127.2:p.(Arg136Cys)	NC_000013.10:g.52598272C>T	VUS	2 labs	ada1d972fe
4:16077324 PROM1 C>T	4	16077324	16077324	C	T	PROM1	c.206G>A	NM_001145847.1	NP_001139319.1:p.(Arg69His)	NC_000004.11:g.16077324C>T	(Likely) benign	2 labs	adacdc8a71
X:34148043 FAM47A C>T	X	34148043	34148043	C	T	FAM47A	c.2353G>A	NM_203408.3	NP_981953.2:p.(Val785Ile)	NC_000023.10:g.34148043C>T	(Likely) benign	2 labs	adb090a323
4:126408532 FAT4 T>C	4	126408532	126408532	T	C	FAT4	c.12855T>C	NM_001291303.3	NP_001278232.1:p.(Asp4285=)	NC_000004.11:g.126408532T>C	(Likely) benign	2 labs	adbaea995d
16:88789000 PIEZO1 G>A	16	88789000	88789000	G	A	PIEZO1	c.4766C>T	NM_001142864.4	NP_001136336.2:p.(Thr1589Ile)	NC_000016.9:g.88789000G>A	(Likely) benign	2 labs	adcb4de05a
2:179587934 TTN C>T	2	179587934	179587934	C	T	TTN	c.21800G>A	NM_001267550.2	NP_001254479.2:p.(Gly7267Asp)	NC_000002.11:g.179587934C>T	(Likely) benign	2 labs	adc7ea6abd
5:90101130 ADGRV1 C>T	5	90101130	90101130	C	T	ADGRV1	c.14691C>T	NM_032119.4	NP_115495.3:p.(Leu4897=)	NC_000005.9:g.90101130C>T	(Likely) benign	2 labs	ade2a9a861
7:21598585 DNAH11 A>T	7	21598585	21598585	A	T	DNAH11				NC_000007.13:g.21598585A>T	(Likely) benign	2 labs	ade2d4211f
9:139395220 NOTCH1 C>T	9	139395220	139395220	C	T	NOTCH1	c.5718G>A	NM_017617.5	NP_060087.3:p.(Ala1906=)	NC_000009.11:g.139395220C>T	(Likely) benign	2 labs	ade5d78c11
17:38978703 KRT10 T>C	17	38978703	38978703	T	C	KRT10	c.135A>G	NM_000421.5	NP_000412.4:p.(Gly45=)	NC_000017.10:g.38978703T>C	(Likely) benign	2 labs	ade91b310f
6:7581458 DSP C>T	6	7581458	7581458	C	T	DSP	c.5035C>T	NM_004415.4	NP_004406.2:p.(His1679Tyr)	NC_000006.11:g.7581458C>T	VUS	3 labs	ade955673b
19:856145 ELANE C>T	19	856145	856145	C	T	ELANE	c.785C>T	NM_001972.2	NP_001963.1:p.(Pro262Leu)	NC_000019.9:g.856145C>T	(Likely) benign	2 labs	ade81249ed
4:6303313 WFS1 C>T	4	6303313	6303313	C	T	WFS1	c.1791C>T	NM_006005.3	NP_005996.2:p.(Ile597=)	NC_000004.11:g.6303313C>T	(Likely) benign	2 labs	adef343ada
22:33780307 LARGE1 G>C	22	33780307	33780307	G	C	LARGE1	c.893-17C>G	NM_004737.5	NP_004728.1:p.?	NC_000022.10:g.33780307G>C	(Likely) benign	2 labs	adf727902a
1:155874263 RIT1 T>C	1	155874263	155874263	T	C	RIT1	c.268A>G	NM_006912.6	NP_008843.1:p.(Met90Val)	NC_000001.10:g.155874263T>C	(Likely) pathogenic	4 labs	ae00e90cf8
2:85787963 GGCX G>A	2	85787963	85787963	G	A	GGCX	c.189C>T	NM_000821.6	NP_000812.2:p.(Ser63=)	NC_000002.11:g.85787963G>A	(Likely) benign	2 labs	adfddbdd0b
X:153642432 TAFAZZIN C>A	X	153642432	153642432	C	A	TAFAZZIN	c.371-6C>A	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153642432C>A	(Likely) benign	3 labs	ae0bee14b8
14:23883040 MYH7 T>G	14	23883040	23883040	T	G	MYH7	c.5718A>C	NM_000257.2	NP_000248.2:p.(Ala1906=)	NC_000014.8:g.23883040T>G	(Likely) benign	2 labs	ae0d6a64ba
13:25946436 ATP8A2 G>A	13	25946436	25946436	G	A	ATP8A2	c.76+10G>A	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.25946436G>A	(Likely) benign	2 labs	ae203568b2
1:228566084 OBSCN G>A	1	228566084	228566084	G	A	OBSCN	c.26557G>A	NM_001271223.2	NP_001258152.2:p.(Val8853Met)	NC_000001.10:g.228566084G>A	(Likely) benign	2 labs	ae360ec042
14:105412539 AHNAK2 GAC>G	14	105412539	105412542	GAC	G	AHNAK2	c.9247_9248del	NM_138420.4	NP_612429.2:p.(Val3083GlnfsTer80)	NC_000014.8:g.105412541_105412542del	VUS	2 labs	ae3b37f84d
17:29676104 NF1 C>CTTGT	17	29676104	29676130	C	CTTGT	NF1	c.7127-11_7127-8dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29676127_29676130dup	(Likely) benign	2 labs	ae3dbaef0a
6:129691141 LAMA2 G>T	6	129691141	129691141	G	T	LAMA2	c.4959+6G>T	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129691141G>T	(Likely) benign	2 labs	ae42b3a01e
19:6711125 C3 T>C	19	6711125	6711125	T	C	C3	c.1352A>G	NM_000064.2	NP_000055.2:p.(Asn451Ser)	NC_000019.9:g.6711125T>C	(Likely) benign	2 labs	ae43a968b4
16:23614792 PALB2 G>T	16	23614792	23614792	G	T	PALB2	c.3549C>A	NM_024675.4	NP_078951.2:p.(Tyr1183Ter)	NC_000016.9:g.23614792G>T	(Likely) pathogenic	6 labs	ae44e14ff5
3:4735398 ITPR1 G>T	3	4735398	4735398	G	T	ITPR1	c.4209G>T	NM_001168272.1	NP_001161744.1:p.(Val1403=)	NC_000003.11:g.4735398G>T	(Likely) benign	2 labs	ae499d587e
11:20070668 NAV2 A>G	11	20070668	20070668	A	G	NAV2	c.4366A>G	NM_001244963.1	NP_001231892.1:p.(Ile1456Val)	NC_000011.9:g.20070668A>G	(Likely) benign	2 labs	ae4e0d6e73
17:39977249 FKBP10 T>C	17	39977249	39977249	T	C	FKBP10	c.1307T>C	NM_021939.4	NP_068758.3:p.(Ile436Thr)	NC_000017.10:g.39977249T>C	(Likely) benign	3 labs	ae479ab527
3:37090446 MLH1 G>A	3	37090446	37090446	G	A	MLH1	c.2041G>A	NM_000249.3	NP_000240.1:p.(Ala681Thr)	NC_000003.11:g.37090446G>A	(Likely) pathogenic	3 labs	ae64e96535
2:179422286 TTN C>A	2	179422286	179422286	C	A	TTN	c.87707-4G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179422286C>A	(Likely) benign	5 labs	ae68f7335a
14:23873602 MYH6 G>A	14	23873602	23873602	G	A	MYH6	c.643-5C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873602G>A	(Likely) benign	6 labs	ae7157dfda
8:68076666 CSPP1 A>C	8	68076666	68076666	A	C	CSPP1	c.2736A>C	NM_024790.6	NP_079066.5:p.(Arg912Ser)	NC_000008.10:g.68076666A>C	VUS	2 labs	ae6eb69e78
19:48945044 GRIN2D C>T	19	48945044	48945044	C	T	GRIN2D	c.2271C>T	NM_000836.2	NP_000827.2:p.(Ile757=)	NC_000019.9:g.48945044C>T	(Likely) benign	2 labs	ae70d7719f
12:52115513 SCN8A G>A	12	52115513	52115513	G	A	SCN8A	c.1819G>A	NM_014191.3	NP_055006.1:p.(Ala607Thr)	NC_000012.11:g.52115513G>A	(Likely) benign	2 labs	ae743b6802
15:89864238 POLG T>G	15	89864238	89864238	T	G	POLG	c.2740A>C	NM_002693.3	NP_002684.1:p.(Thr914Pro)	NC_000015.9:g.89864238T>G	(Likely) pathogenic	3 labs	ae7a3d0c0f
2:152483662 NEB A>T	2	152483662	152483662	A	T	NEB	c.10201T>A	NM_001271208.1	NP_001258137.1:p.(Ser3401Thr)	NC_000002.11:g.152483662A>T	VUS	2 labs	ae83a5035c
15:28197024 OCA2 G>A	15	28197024	28197024	G	A	OCA2	c.1857C>T	NM_000275.3	NP_000266.2:p.(Asp619=)	NC_000015.9:g.28197024G>A	(Likely) benign	2 labs	ae8ac2a873
1:11300580 MTOR G>A	1	11300580	11300580	G	A	MTOR	c.1566C>T	NM_004958.3	NP_004949.1:p.(Tyr522=)	NC_000001.10:g.11300580G>A	(Likely) benign	2 labs	ae8f512cce
12:112888198 PTPN11 G>A	12	112888198	112888198	G	A	PTPN11	c.214G>A	NM_002834.5	NP_002825.3:p.(Ala72Thr)	NC_000012.11:g.112888198G>A	(Likely) pathogenic	3 labs	ae9795eb8a
8:28575595 EXTL3 G>A	8	28575595	28575595	G	A	EXTL3	c.2019G>A	NM_001440.3	NP_001431.1:p.(Glu673=)	NC_000008.10:g.28575595G>A	(Likely) benign	2 labs	ae9cf25c2c
X:76937207 ATRX C>G	X	76937207	76937207	C	G	ATRX	c.3541G>C	NM_000489.6	NP_000480.3:p.(Val1181Leu)	NC_000023.10:g.76937207C>G	(Likely) benign	3 labs	ae9d3c1538
17:29679348 NF1 G>C	17	29679348	29679348	G	C	NF1	c.7468G>C	NM_000267.3	NP_000258.1:p.(Val2490Leu)	NC_000017.10:g.29679348G>C	(Likely) benign	3 labs	aeae9eda85
22:32270401 DEPDC5 C>A	22	32270401	32270401	C	A	DEPDC5	c.3696+10C>A	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32270401C>A	(Likely) benign	2 labs	aeaab664fc
9:117166210 WHRN C>T	9	117166210	117166210	C	T	WHRN	c.2384G>A	NM_015404.3	NP_056219.3:p.(Arg795Gln)	NC_000009.11:g.117166210C>T	(Likely) benign	2 labs	aeb6748e6a
7:42005981 GLI3 G>C	7	42005981	42005981	G	C	GLI3	c.2690C>G	NM_000168.6	NP_000159.3:p.(Pro897Arg)	NC_000007.13:g.42005981G>C	VUS	2 labs	aeb8a183dc
12:124171417 TCTN2 G>A	12	124171417	124171417	G	A	TCTN2	c.599G>A	NM_024809.4	NP_079085.2:p.(Arg200Gln)	NC_000012.11:g.124171417G>A	(Likely) benign	2 labs	aeb9701b5c
18:56367832 MALT1 C>T	18	56367832	56367832	C	T	MALT1	c.649+9C>T	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56367832C>T	(Likely) benign	2 labs	aebc23d097
18:31320333 ASXL3 C>G	18	31320333	31320333	C	G	ASXL3	c.2965C>G	NM_030632.2	NP_085135.1:p.(Arg989Gly)	NC_000018.9:g.31320333C>G	(Likely) benign	2 labs	aeceb7ec44
16:2550406 TBC1D24 G>A	16	2550406	2550406	G	A	TBC1D24	c.1440G>A	NM_001199107.1	NP_001186036.1:p.(Ser480=)	NC_000016.9:g.2550406G>A	(Likely) benign	2 labs	aed0a154c7
5:37244573 CPLANE1 C>T	5	37244573	37244573	C	T	CPLANE1	c.474G>A	NM_023073.3	NP_075561.3:p.(Ala158=)	NC_000005.9:g.37244573C>T	VUS	2 labs	aed8118d76
14:24729019 TGM1 T>C	14	24729019	24729019	T	C	TGM1	c.877-2A>G	NM_000359.3	NP_000350.1:p.?	NC_000014.8:g.24729019T>C	(Likely) pathogenic	5 labs	aedbc485e2
11:71146481 DHCR7 G>A	11	71146481	71146481	G	A	DHCR7	c.1368C>T	NM_001360.2	NP_001351.2:p.(Gly456=)	NC_000011.9:g.71146481G>A	(Likely) benign	3 labs	aeecb9cd1d
8:72211364 EYA1 C>T	8	72211364	72211364	C	T	EYA1	c.744G>A	NM_000503.5	NP_000494.2:p.(Thr248=)	NC_000008.10:g.72211364C>T	(Likely) benign	2 labs	aeecbd92fa
1:201328372 TNNT2 C>T	1	201328372	201328372	C	T	TNNT2	c.833G>A	NM_001276347.2	NP_001263276.1:p.(Arg278His)	NC_000001.10:g.201328372C>T	VUS	2 labs	aee89cc9fb
3:48508086 TREX1 T>C	3	48508086	48508086	T	C	TREX1	c.32T>C	NM_033629.6	NP_338599.1:p.(Met11Thr)	NC_000003.11:g.48508086T>C	VUS	3 labs	aeed58ab2f
16:14693776 PARN G>A	16	14693776	14693776	G	A	PARN	c.825C>T	NM_002582.4	NP_002573.1:p.(His275=)	NC_000016.9:g.14693776G>A	(Likely) benign	2 labs	af050d20c7
17:78172242 CARD14 A>C	17	78172242	78172242	A	C	CARD14	c.1703A>C	NM_024110.4	NP_077015.2:p.(Gln568Pro)	NC_000017.10:g.78172242A>C	VUS	2 labs	af0e1148c8
3:10183797 VHL T>C	3	10183797	10183797	T	C	VHL	c.266T>C	NM_000551.4	NP_000542.1:p.(Leu89Pro)	NC_000003.11:g.10183797T>C	(Likely) pathogenic	2 labs	af14e94bda
10:75758085 VCL C>T	10	75758085	75758085	C	T	VCL	c.120C>T	NM_014000.3	NP_054706.1:p.(Leu40=)	NC_000010.10:g.75758085C>T	(Likely) benign	2 labs	af22d16c78
15:52613593 MYO5A G>C	15	52613593	52613593	G	C	MYO5A	c.4839C>G	NM_000259.3	NP_000250.3:p.(Leu1613=)	NC_000015.9:g.52613593G>C	(Likely) benign	2 labs	af24bff265
2:233001353 DIS3L2 C>T	2	233001353	233001353	C	T	DIS3L2	c.874C>T	NM_152383.4	NP_689596.4:p.(Arg292Trp)	NC_000002.11:g.233001353C>T	VUS	2 labs	af364e82c3
17:29552261 NF1 C>T	17	29552261	29552261	C	T	NF1	c.1994C>T	NM_000267.3	NP_000258.1:p.(Ser665Phe)	NC_000017.10:g.29552261C>T	(Likely) benign	3 labs	af376d24b3
1:40777800 COL9A2 T>G	1	40777800	40777800	T	G	COL9A2	c.364-16A>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40777800T>G	(Likely) benign	3 labs	af3d414801
9:2718567 KCNV2 G>A	9	2718567	2718567	G	A	KCNV2	c.828G>A	NM_133497.4	NP_598004.1:p.(Ala276=)	NC_000009.11:g.2718567G>A	(Likely) benign	2 labs	af3ef4c4f6
6:152540187 SYNE1 T>G	6	152540187	152540187	T	G	SYNE1	c.21995A>C	NM_182961.3	NP_892006.3:p.(His7332Pro)	NC_000006.11:g.152540187T>G	(Likely) benign	2 labs	af4417a32f
12:22028657 ABCC9 T>C	12	22028657	22028657	T	C	ABCC9	c.2023A>G	NM_020297.4	NP_064693.2:p.(Thr675Ala)	NC_000012.11:g.22028657T>C	VUS	4 labs	af4ce47bfa
2:179665362 TTN C>T	2	179665362	179665362	C	T	TTN	c.343G>A	NM_001267550.1	NP_001254479.1:p.(Val115Met)	NC_000002.11:g.179665362C>T	VUS	3 labs	af5288e9b4
20:18523663 SEC23B T>C	20	18523663	18523663	T	C	SEC23B	c.1512T>C	NM_032985.5	NP_116780.1:p.(Asn504=)	NC_000020.10:g.18523663T>C	(Likely) benign	2 labs	af655297d0
6:82461727 TENT5A A>ACCGCCGAAGTCGCCG	6	82461727	82461789	A	ACCGCCGAAGTCGCCG	TENT5A	c.117_131dup	NM_017633.3	NP_060103.2:p.(Asp41_Gly45dup)	NC_000006.11:g.82461775_82461789dup	(Likely) benign	2 labs	af6254b71e
16:81953128 PLCG2 C>T	16	81953128	81953128	C	T	PLCG2	c.2094C>T	NM_002661.3	NP_002652.2:p.(Asp698=)	NC_000016.9:g.81953128C>T	(Likely) benign	2 labs	af70c27256
X:38240587 OTC T>A	X	38240587	38240587	T	A	OTC	c.299-8T>A	NM_000531.6	NP_000522.3:p.?	NC_000023.10:g.38240587T>A	(Likely) benign	3 labs	af6f0e5b5d
X:153588407 FLNA C>T	X	153588407	153588407	C	T	FLNA	c.3756G>A	NM_001110556.2	NP_001104026.1:p.(Ala1252=)	NC_000023.10:g.153588407C>T	(Likely) benign	2 labs	af88241141
13:110831718 COL4A1 G>A	13	110831718	110831718	G	A	COL4A1	c.2244C>T	NM_001845.5	NP_001836.3:p.(Pro748=)	NC_000013.10:g.110831718G>A	(Likely) benign	2 labs	af8f699fed
16:2138398 TSC2 C>T	16	2138398	2138398	C	T	TSC2	c.5260-49C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138398C>T	(Likely) benign	2 labs	af91cc94a4
X:77258665 ATP7A C>T	X	77258665	77258665	C	T	ATP7A	c.1639C>T	NM_000052.7	NP_000043.4:p.(Arg547Ter)	NC_000023.10:g.77258665C>T	(Likely) pathogenic	2 labs	af9e43584e
22:21337325 LZTR1 G>A	22	21337325	21337325	G	A	LZTR1	c.210G>A	NM_006767.3	NP_006758.2:p.(Lys70=)	NC_000022.10:g.21337325G>A	(Likely) benign	2 labs	af9ec9bc58
7:128478828 FLNC G>A	7	128478828	128478828	G	A	FLNC	c.1382G>A	NM_001458.5	NP_001449.3:p.(Arg461His)	NC_000007.13:g.128478828G>A	VUS	2 labs	afa7f5fb83
7:147183146 CNTNAP2 T>G	7	147183146	147183146	T	G	CNTNAP2	c.1777+13T>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147183146T>G	(Likely) benign	2 labs	afadd9e60d
2:179640238 TTN A>G	2	179640238	179640238	A	G	TTN	c.6353T>C	NM_001267550.2	NP_001254479.2:p.(Ile2118Thr)	NC_000002.11:g.179640238A>G	(Likely) benign	3 labs	afae91e78d
1:27099830 ARID1A C>T	1	27099830	27099830	C	T	ARID1A	c.3716-7C>T	NM_006015.4	NP_006006.3:p.?	NC_000001.10:g.27099830C>T	(Likely) benign	2 labs	afb4443231
15:63921004 HERC1 C>A	15	63921004	63921004	C	A	HERC1	c.12977G>T	NM_003922.4	NP_003913.3:p.(Gly4326Val)	NC_000015.9:g.63921004C>A	VUS	2 labs	afbf88e0be
18:2920311 LPIN2 C>T	18	2920311	2920311	C	T	LPIN2	c.2671G>A	NM_014646.2	NP_055461.1:p.(Asp891Asn)	NC_000018.9:g.2920311C>T	(Likely) benign	3 labs	afc2197ad1
13:32913105 BRCA2 CTT>C	13	32913105	32913108	CTT	C	BRCA2	c.4615_4616del	NM_000059.4	NP_000050.3:p.(Leu1539GlyfsTer8)	NC_000013.10:g.32913107_32913108del	(Likely) pathogenic	2 labs	afc38cb0c8
2:73747116 ALMS1 C>T	2	73747116	73747116	C	T	ALMS1	c.9757C>T	NM_015120.4	NP_055935.4:p.(Gln3253Ter)	NC_000002.11:g.73747116C>T	(Likely) pathogenic	2 labs	afc1f565f9
2:179664448 TTN G>A	2	179664448	179664448	G	A	TTN	c.680C>T	NM_001267550.2	NP_001254479.2:p.(Ala227Val)	NC_000002.11:g.179664448G>A	VUS	2 labs	afd24145dc
12:13761696 GRIN2B G>A	12	13761696	13761696	G	A	GRIN2B	c.1851C>T	NM_000834.5	NP_000825.2:p.(Ser617=)	NC_000012.11:g.13761696G>A	(Likely) benign	3 labs	afe451cd55
4:187004074 TLR3 C>G	4	187004074	187004074	C	G	TLR3	c.1234C>G	NM_003265.2	NP_003256.1:p.(Leu412Val)	NC_000004.11:g.187004074C>G	VUS	3 labs	afe7505a80
11:32456394 WT1 G>T	11	32456394	32456394	G	T	WT1	c.513C>A	NM_024426.6	NP_077744.4:p.(Gly171=)	NC_000011.9:g.32456394G>T	(Likely) benign	3 labs	afe8f90684
22:38379546 SOX10 G>C	22	38379546	38379546	G	C	SOX10	c.246C>G	NM_006941.3	NP_008872.1:p.(Gly82=)	NC_000022.10:g.38379546G>C	(Likely) benign	2 labs	afed6505fa
2:179478846 TTN A>G	2	179478846	179478846	A	G	TTN	c.49278T>C	NM_001267550.2	NP_001254479.2:p.(Ala16426=)	NC_000002.11:g.179478846A>G	(Likely) benign	4 labs	aff0ced997
8:145583380 SLC52A2 C>T	8	145583380	145583380	C	T	SLC52A2	c.228C>T	NM_024531.4	NP_078807.1:p.(Asp76=)	NC_000008.10:g.145583380C>T	(Likely) benign	2 labs	aff1569d8a
17:29585538 NF1 TCTAG>T	17	29585538	29585545	TCTAG	T	NF1	c.4269+22_4269+25del	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29585542_29585545del	(Likely) benign	2 labs	affda3d3be
1:22456216 WNT4 C>T	1	22456216	22456216	C	T	WNT4	c.206G>A	NM_030761.4	NP_110388.2:p.(Arg69His)	NC_000001.10:g.22456216C>T	VUS	2 labs	affd09e54c
X:76937603 ATRX T>C	X	76937603	76937603	T	C	ATRX	c.3145A>G	NM_000489.5	NP_000480.3:p.(Ile1049Val)	NC_000023.10:g.76937603T>C	VUS	2 labs	b002066ad4
2:228173943 COL4A3 C>T	2	228173943	228173943	C	T	COL4A3	c.4664C>T	NM_000091.4	NP_000082.2:p.(Ala1555Val)	NC_000002.11:g.228173943C>T	VUS	2 labs	b00d25d99e
13:25486977 CPAP C>G	13	25486977	25486977	C	G	CPAP	c.187G>C	NM_018451.4	NP_060921.3:p.(Asp63His)	NC_000013.10:g.25486977C>G	(Likely) benign	2 labs	b02719c054
X:3028272 ARSF C>T	X	3028272	3028272	C	T	ARSF	c.1369C>T	NM_001201539.1	NP_001188468.1:p.(Arg457Trp)	NC_000023.10:g.3028272C>T	VUS	2 labs	b02fd95e33
X:48933363 WDR45 T>C	X	48933363	48933363	T	C	WDR45	c.569A>G	NM_007075.3	NP_009006.2:p.(Asn190Ser)	NC_000023.10:g.48933363T>C	(Likely) benign	2 labs	b031698a28
21:46898267 COL18A1 G>A	21	46898267	46898267	G	A	COL18A1	c.2493G>A	NM_130444.3	NP_569711.2:p.(Pro831=)	NC_000021.8:g.46898267G>A	(Likely) benign	2 labs	b036347d2f
17:41249315 BRCA1 T>C	17	41249315	41249315	T	C	BRCA1	c.548-9A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249315T>C	VUS	2 labs	b03ba4e873
X:47486643 CFP G>A	X	47486643	47486643	G	A	CFP	c.663C>T	NM_002621.2	NP_002612.1:p.(Ser221=)	NC_000023.10:g.47486643G>A	(Likely) benign	3 labs	b043265ec4
20:10393629 MKKS G>A	20	10393629	10393629	G	A	MKKS	c.534C>T	NM_018848.3	NP_061336.1:p.(Ile178=)	NC_000020.10:g.10393629G>A	(Likely) benign	2 labs	b045f15ee9
10:73553127 CDH23 G>A	10	73553127	73553127	G	A	CDH23	c.6442G>A	NM_022124.5	NP_071407.4:p.(Asp2148Asn)	NC_000010.10:g.73553127G>A	(Likely) pathogenic	2 labs	b04bce5862
12:80672878 OTOGL C>T	12	80672878	80672878	C	T	OTOGL	c.2833C>T	NM_173591.3	NP_775862.3:p.(Arg945Ter)	NC_000012.11:g.80672878C>T	(Likely) pathogenic	2 labs	b04d3d66ea
11:76871260 MYO7A C>T	11	76871260	76871260	C	T	MYO7A	c.1132C>T	NM_000260.3	NP_000251.3:p.(Arg378Cys)	NC_000011.9:g.76871260C>T	VUS	2 labs	b0501e512e
16:88503574 ZNF469 G>A	16	88503574	88503574	G	A	ZNF469	c.9696G>A	NM_001367624.2	NP_001354553.1:p.(Thr3232=)	NC_000016.9:g.88503574G>A	(Likely) benign	2 labs	b0517892d2
3:25648759 TOP2B G>A	3	25648759	25648759	G	A	TOP2B	c.4186C>T	NM_001068.3	NP_001059.2:p.(Pro1396Ser)	NC_000003.11:g.25648759G>A	VUS	2 labs	b057e78d4c
1:20964401 PINK1 C>T	1	20964401	20964401	C	T	PINK1	c.454C>T	NM_032409.2	NP_115785.1:p.(Arg152Trp)	NC_000001.10:g.20964401C>T	VUS	2 labs	b065258130
16:15818009 MYH11 G>A	16	15818009	15818009	G	A	MYH11	c.4386+9C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818009G>A	(Likely) benign	3 labs	b05d80cbb7
6:66044966 EYS C>T	6	66044966	66044966	C	T	EYS	c.1673G>A	NM_001292009.2	NP_001278938.1:p.(Trp558Ter)	NC_000006.11:g.66044966C>T	(Likely) pathogenic	3 labs	b06209a117
17:29556025 NF1 C>T	17	29556025	29556025	C	T	NF1	c.2410-18C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556025C>T	(Likely) benign	2 labs	b076a4f309
2:27668618 IFT172 A>C	2	27668618	27668618	A	C	IFT172	c.4908T>G	NM_015662.3	NP_056477.1:p.(His1636Gln)	NC_000002.11:g.27668618A>C	VUS	2 labs	b071019d78
7:128490506 FLNC C>T	7	128490506	128490506	C	T	FLNC	c.5367C>T	NM_001458.5	NP_001449.3:p.(Ile1789=)	NC_000007.13:g.128490506C>T	(Likely) benign	3 labs	b073646750
12:49424703 KMT2D G>A	12	49424703	49424703	G	A	KMT2D	c.13644C>T	NM_003482.3	NP_003473.3:p.(Ser4548=)	NC_000012.11:g.49424703G>A	(Likely) benign	3 labs	b07c0dddd8
16:75688211 TERF2IP G>A	16	75688211	75688211	G	A	TERF2IP	c.711G>A	NM_018975.3	NP_061848.2:p.(Glu237=)	NC_000016.9:g.75688211G>A	(Likely) benign	2 labs	b081254edc
22:17589639 IL17RA C>T	22	17589639	17589639	C	T	IL17RA	c.1530C>T	NM_014339.6	NP_055154.3:p.(Asp510=)	NC_000022.10:g.17589639C>T	(Likely) benign	2 labs	b085a60463
11:103044038 DYNC2H1 A>G	11	103044038	103044038	A	G	DYNC2H1	c.5558+4A>G	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103044038A>G	(Likely) benign	2 labs	b08a32e983
X:37668909 CYBB T>A	X	37668909	37668909	T	A	CYBB	c.1551T>A	NM_000397.3	NP_000388.2:p.(Asp517Glu)	NC_000023.10:g.37668909T>A	(Likely) benign	2 labs	b090c72a80
17:79479115 ACTG1 C>T	17	79479115	79479115	C	T	ACTG1	c.177G>A	NM_001199954.2	NP_001186883.1:p.(Gln59=)	NC_000017.10:g.79479115C>T	(Likely) benign	2 labs	b092bda7da
10:73558199 CDH23 G>A	10	73558199	73558199	G	A	CDH23	c.6918G>A	NM_022124.6	NP_071407.4:p.(Leu2306=)	NC_000010.10:g.73558199G>A	(Likely) benign	2 labs	b0913d732d
8:10467629 RP1L1 T>C	8	10467629	10467629	T	C	RP1L1	c.3979A>G	NM_178857.6	NP_849188.4:p.(Thr1327Ala)	NC_000008.10:g.10467629T>C	(Likely) benign	2 labs	b094260401
11:78565277 TENM4 C>T	11	78565277	78565277	C	T	TENM4	c.1553G>A	NM_001098816.2	NP_001092286.2:p.(Arg518Gln)	NC_000011.9:g.78565277C>T	VUS	2 labs	b0a075718e
19:36593915 WDR62 T>G	19	36593915	36593915	T	G	WDR62	c.3401T>G	NM_001083961.1	NP_001077430.1:p.(Met1134Arg)	NC_000019.9:g.36593915T>G	(Likely) benign	2 labs	b0a311ffca
18:12337322 AFG3L2 C>T	18	12337322	12337322	C	T	AFG3L2	c.2175+18G>A	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12337322C>T	(Likely) benign	2 labs	b0b0774bba
6:32035430 TNXB A>T	6	32035430	32035430	A	T	TNXB	c.6544+8T>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32035430A>T	(Likely) benign	3 labs	b0abace16d
8:144998132 PLEC G>A	8	144998132	144998132	G	A	PLEC	c.6376C>T	NM_201380.3	NP_958782.1:p.(Arg2126Cys)	NC_000008.10:g.144998132G>A	VUS	2 labs	b0b4ac0d67
3:48627691 COL7A1 G>A	3	48627691	48627691	G	A	COL7A1	c.2005C>T	NM_000094.3	NP_000085.1:p.(Arg669Ter)	NC_000003.11:g.48627691G>A	(Likely) pathogenic	2 labs	b0b80aac09
9:139399856 NOTCH1 T>C	9	139399856	139399856	T	C	NOTCH1	c.4492A>G	NM_017617.5	NP_060087.3:p.(Lys1498Glu)	NC_000009.11:g.139399856T>C	VUS	2 labs	b0bdfb87b1
7:117282541 CFTR C>CT	7	117282541	117282547	C	CT	CFTR	c.3773dup	NM_000492.4	NP_000483.3:p.(Leu1258PhefsTer7)	NC_000007.13:g.117282547dup	(Likely) pathogenic	2 labs	b0d3c7d31f
X:153453340 OPN1MW T>C	X	153453340	153453340	T	C	OPN1MW	c.194T>C	NM_000513.2	NP_000504.1:p.(Ile65Thr)	NC_000023.10:g.153453340T>C	(Likely) benign	2 labs	b0d71b861d
6:73900407 KCNQ5 A>G	6	73900407	73900407	A	G	KCNQ5	c.1746A>G	NM_001160133.1	NP_001153605.1:p.(Arg582=)	NC_000006.11:g.73900407A>G	(Likely) benign	2 labs	b0e4b10361
19:50364891 PNKP G>T	19	50364891	50364891	G	T	PNKP	c.1360C>A	NM_007254.3	NP_009185.2:p.(Leu454Met)	NC_000019.9:g.50364891G>T	(Likely) benign	2 labs	b0e7441f72
6:146480740 GRM1 TTCTC>T	6	146480740	146480778	TTCTC	T	GRM1	c.950+42_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480775_146480778del	(Likely) benign	2 labs	b0e7836762
10:69959295 MYPN C>T	10	69959295	69959295	C	T	MYPN	c.3456C>T	NM_032578.4	NP_115967.2:p.(Thr1152=)	NC_000010.10:g.69959295C>T	(Likely) benign	2 labs	b0f561acce
5:41149448 C6 C>T	5	41149448	41149448	C	T	C6	c.2518G>A	NM_001115131.2	NP_001108603.2:p.(Gly840Ser)	NC_000005.9:g.41149448C>T	(Likely) benign	2 labs	b0fbeab89d
10:31749982 ZEB1 TGTGGTA>T	10	31749982	31749989	TGTGGTA	T	ZEB1	c.77_82del	NM_001174096.2	NP_001167567.1:p.(Val26_Val27del)	NC_000010.10:g.31749984_31749989del	VUS	2 labs	b1010b9b8d
18:28650697 DSC2 T>G	18	28650697	28650697	T	G	DSC2	c.2245A>C	NM_004949.5	NP_004940.1:p.(Lys749Gln)	NC_000018.9:g.28650697T>G	VUS	2 labs	b0fd446232
19:1615375 TCF3 T>C	19	1615375	1615375	T	C	TCF3	c.1731A>G	NM_003200.5	NP_003191.1:p.(Gln577=)	NC_000019.9:g.1615375T>C	(Likely) benign	2 labs	b108dded2f
8:95871815 INTS8 A>G	8	95871815	95871815	A	G	INTS8	c.2031A>G	NM_017864.3	NP_060334.2:p.(Thr677=)	NC_000008.10:g.95871815A>G	(Likely) benign	2 labs	b10dc72c13
18:19348720 MIB1 T>G	18	19348720	19348720	T	G	MIB1	c.531+7T>G	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19348720T>G	(Likely) benign	2 labs	b112b2f2f4
13:32968970 BRCA2 GC>G	13	32968970	32968972	GC	G	BRCA2	c.9403del	NM_000059.4	NP_000050.3:p.(Leu3135PhefsTer28)	NC_000013.10:g.32968972del	(Likely) pathogenic	3 labs	b11ab681d1
1:196642221 CFH T>G	1	196642221	196642221	T	G	CFH	c.172T>G	NM_000186.3	NP_000177.2:p.(Ser58Ala)	NC_000001.10:g.196642221T>G	VUS	2 labs	b11e1f3cbd
7:107315505 SLC26A4 T>A	7	107315505	107315505	T	A	SLC26A4	c.716T>A	NM_000441.1	NP_000432.1:p.(Val239Asp)	NC_000007.13:g.107315505T>A	(Likely) pathogenic	2 labs	b1299d7272
9:32984657 APTX A>T	9	32984657	32984657	A	T	APTX	c.742T>A	NM_175073.2	NP_778243.1:p.(Leu248Met)	NC_000009.11:g.32984657A>T	VUS	2 labs	b138cb6b6f
6:152730273 SYNE1 T>C	6	152730273	152730273	T	C	SYNE1	c.6470A>G	NM_182961.3	NP_892006.3:p.(Lys2157Arg)	NC_000006.11:g.152730273T>C	(Likely) benign	2 labs	b1429747a7
1:152277240 FLG GT>G	1	152277240	152277241	GT	G	FLG	c.10121del	NM_002016.2	NP_002007.1:p.(Asp3374AlafsTer17)	NC_000001.10:g.152277241del	(Likely) pathogenic	2 labs	b1513ba234
2:217347476 SMARCAL1 A>C	2	217347476	217347476	A	C	SMARCAL1	c.2641A>C	NM_014140.3	NP_054859.2:p.(Lys881Gln)	NC_000002.11:g.217347476A>C	(Likely) benign	2 labs	b1527d048d
11:76894116 MYO7A C>T	11	76894116	76894116	C	T	MYO7A	c.3289C>T	NM_000260.3	NP_000251.3:p.(Gln1097Ter)	NC_000011.9:g.76894116C>T	(Likely) pathogenic	2 labs	b156e1b529
7:103162607 RELN G>A	7	103162607	103162607	G	A	RELN	c.7530C>T	NM_005045.4	NP_005036.2:p.(Pro2510=)	NC_000007.13:g.103162607G>A	(Likely) benign	2 labs	b15117af28
9:71650752 FXN A>G	9	71650752	71650752	A	G	FXN	c.54A>G	NM_181425.3	NP_852090.1:p.(Pro18=)	NC_000009.11:g.71650752A>G	(Likely) benign	3 labs	b15771eb0c
11:47355196 MYBPC3 G>A	11	47355196	47355196	G	A	MYBPC3	c.3102C>T	NM_000256.3	NP_000247.2:p.(Ala1034=)	NC_000011.9:g.47355196G>A	(Likely) benign	2 labs	b159e7651b
X:53611216 HUWE1 T>C	X	53611216	53611216	T	C	HUWE1	c.5091A>G	NM_031407.6	NP_113584.3:p.(Gly1697=)	NC_000023.10:g.53611216T>C	(Likely) benign	2 labs	b163261dd8
12:52180505 SCN8A T>A	12	52180505	52180505	T	A	SCN8A	c.4122T>A	NM_014191.3	NP_055006.1:p.(Thr1374=)	NC_000012.11:g.52180505T>A	(Likely) benign	2 labs	b16539cba9
12:103234252 PAH T>C	12	103234252	103234252	T	C	PAH	c.1241A>G	NM_000277.3	NP_000268.1:p.(Tyr414Cys)	NC_000012.11:g.103234252T>C	(Likely) pathogenic	5 labs	b1671537d2
13:31821152 B3GLCT T>C	13	31821152	31821152	T	C	B3GLCT	c.271-8T>C	NM_194318.3	NP_919299.3:p.?	NC_000013.10:g.31821152T>C	(Likely) benign	3 labs	b16963f405
7:33376146 BBS9 C>T	7	33376146	33376146	C	T	BBS9	c.1110C>T	NM_198428.2	NP_940820.1:p.(Asn370=)	NC_000007.13:g.33376146C>T	(Likely) benign	2 labs	b16bb0b670
13:25466774 CPAP T>C	13	25466774	25466774	T	C	CPAP	c.3216+7A>G	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25466774T>C	(Likely) benign	2 labs	b17759a0a0
10:69925596 MYPN G>C	10	69925596	69925596	G	C	MYPN	c.1600+21G>C	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69925596G>C	(Likely) benign	2 labs	b176978ec8
20:30418696 MYLK2 C>A	20	30418696	30418696	C	A	MYLK2	c.1295+4C>A	NM_033118.4	NP_149109.1:p.?	NC_000020.10:g.30418696C>A	(Likely) benign	3 labs	b17e0c7bcf
7:117243826 CFTR G>A	7	117243826	117243826	G	A	CFTR	c.2898G>A	NM_000492.4	NP_000483.3:p.(Thr966=)	NC_000007.13:g.117243826G>A	(Likely) benign	3 labs	b18088067e
4:13545804 NKX3-2 T>A	4	13545804	13545804	T	A	NKX3-2	c.235A>T	NM_001189.3	NP_001180.1:p.(Thr79Ser)	NC_000004.11:g.13545804T>A	(Likely) benign	2 labs	b17fba2cb5
14:23896915 MYH7 G>A	14	23896915	23896915	G	A	MYH7	c.1767C>T	NM_000257.4	NP_000248.2:p.(Asn589=)	NC_000014.8:g.23896915G>A	(Likely) benign	5 labs	b17bc38866
8:145739073 RECQL4 G>A	8	145739073	145739073	G	A	RECQL4	c.2082C>T	NM_004260.4	NP_004251.4:p.(Gly694=)	NC_000008.10:g.145739073G>A	VUS	3 labs	b1918793fd
6:51900434 PKHD1 G>A	6	51900434	51900434	G	A	PKHD1	c.3183C>T	NM_138694.3	NP_619639.3:p.(Val1061=)	NC_000006.11:g.51900434G>A	(Likely) benign	2 labs	b1930cdc95
6:110053824 FIG4 G>GT	6	110053824	110053837	G	GT	FIG4	c.447-3dup	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110053837dup	(Likely) benign	4 labs	b1979e1959
2:109381755 RANBP2 G>T	2	109381755	109381755	G	T	RANBP2	c.4760G>T	NM_006267.4	NP_006258.3:p.(Gly1587Val)	NC_000002.11:g.109381755G>T	(Likely) benign	2 labs	b196ea8a4c
X:15268578 ASB9 G>A	X	15268578	15268578	G	A	ASB9	c.542C>T	NM_001168531.1	NP_001162003.1:p.(Ala181Val)	NC_000023.10:g.15268578G>A	(Likely) benign	2 labs	b1a38d22fc
14:24617542 RNF31 G>A	14	24617542	24617542	G	A	RNF31	c.415G>A	NM_017999.5	NP_060469.4:p.(Glu139Lys)	NC_000014.8:g.24617542G>A	(Likely) benign	2 labs	b1a38e97c5
7:21784649 DNAH11 C>T	7	21784649	21784649	C	T	DNAH11				NC_000007.13:g.21784649C>T	(Likely) benign	2 labs	b1a5f51f15
7:107323898 SLC26A4 A>G	7	107323898	107323898	A	G	SLC26A4	c.919-2A>G	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107323898A>G	(Likely) pathogenic	2 labs	b1aeb1d2ba
6:112522826 LAMA4 A>G	6	112522826	112522826	A	G	LAMA4	c.486T>C	NM_001105206.3	NP_001098676.2:p.(Ala162=)	NC_000006.11:g.112522826A>G	(Likely) benign	2 labs	b1ad9944c7
12:5022041 KCNA1 G>A	12	5022041	5022041	G	A	KCNA1	c.*9G>A	NM_000217.3	NP_000208.2:p.?	NC_000012.11:g.5022041G>A	(Likely) benign	3 labs	b1b6b76b1e
11:121445084 SORL1 T>C	11	121445084	121445084	T	C	SORL1	c.3460+12T>C	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121445084T>C	(Likely) benign	2 labs	b1bf59372c
9:134394358 POMT1 G>A	9	134394358	134394358	G	A	POMT1	c.1552+14G>A	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134394358G>A	(Likely) benign	2 labs	b1c0fd2a10
3:47088015 SETD2 T>C	3	47088015	47088015	T	C	SETD2	c.7060A>G	NM_014159.6	NP_054878.5:p.(Thr2354Ala)	NC_000003.11:g.47088015T>C	(Likely) benign	2 labs	b1c3925803
13:110831646 COL4A1 G>A	13	110831646	110831646	G	A	COL4A1	c.2316C>T	NM_001845.5	NP_001836.3:p.(Ile772=)	NC_000013.10:g.110831646G>A	(Likely) benign	2 labs	b1cda49516
22:32270262 DEPDC5 A>G	22	32270262	32270262	A	G	DEPDC5	c.3567A>G	NM_001242896.2	NP_001229825.1:p.(Thr1189=)	NC_000022.10:g.32270262A>G	(Likely) benign	2 labs	b1d37fb4be
X:129283519 AIFM1 C>T	X	129283519	129283519	C	T	AIFM1	c.274G>A	NM_001130847.3	NP_001124319.1:p.(Glu92Lys)	NC_000023.10:g.129283519C>T	(Likely) benign	2 labs	b1d67ae7e8
4:79329005 FRAS1 G>T	4	79329005	79329005	G	T	FRAS1	c.4308+10G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79329005G>T	(Likely) benign	2 labs	b1da5d0740
15:67073380 SMAD6 G>C	15	67073380	67073380	G	C	SMAD6	c.998G>C	NM_005585.4	NP_005576.3:p.(Ser333Thr)	NC_000015.9:g.67073380G>C	(Likely) benign	2 labs	b1e472b66d
10:123276892 FGFR2 C>G	10	123276892	123276892	C	G	FGFR2	c.1025G>C	NM_000141.5	NP_000132.3:p.(Cys342Ser)	NC_000010.10:g.123276892C>G	(Likely) pathogenic	3 labs	b1eb92bec4
11:117860288 IL10RA G>A	11	117860288	117860288	G	A	IL10RA	c.320G>A	NM_001558.4	NP_001549.2:p.(Arg107Gln)	NC_000011.9:g.117860288G>A	(Likely) benign	3 labs	b1f02245ab
19:2249477 AMH G>T	19	2249477	2249477	G	T	AMH	c.146G>T	NM_000479.5	NP_000470.3:p.(Ser49Ile)	NC_000019.9:g.2249477G>T	(Likely) benign	3 labs	b1f1f8779c
11:31822311 PAX6 C>T	11	31822311	31822311	C	T	PAX6	c.43G>A	NM_001310160.1	NP_001297089.1:p.(Gly15Arg)	NC_000011.9:g.31822311C>T	VUS	2 labs	b1f05fb9b8
13:111130361 COL4A2 A>T	13	111130361	111130361	A	T	COL4A2	c.2437A>T	NM_001846.3	NP_001837.2:p.(Met813Leu)	NC_000013.10:g.111130361A>T	VUS	2 labs	b1f09fa871
1:228346177 GJC2 C>T	1	228346177	228346177	C	T	GJC2	c.718C>T	NM_020435.3	NP_065168.2:p.(Arg240Ter)	NC_000001.10:g.228346177C>T	(Likely) pathogenic	3 labs	b1f74154ef
X:25028425 ARX A>G	X	25028425	25028425	A	G	ARX	c.1074-3T>C	NM_139058.3	NP_620689.1:p.?	NC_000023.10:g.25028425A>G	(Likely) benign	2 labs	b1fce3351d
11:76883842 MYO7A C>T	11	76883842	76883842	C	T	MYO7A	c.1846C>T	NM_000260.3	NP_000251.3:p.(Arg616Trp)	NC_000011.9:g.76883842C>T	VUS	3 labs	b2059b43ca
7:42079765 GLI3 G>A	7	42079765	42079765	G	A	GLI3	c.900C>T	NM_000168.6	NP_000159.3:p.(Ser300=)	NC_000007.13:g.42079765G>A	(Likely) benign	2 labs	b1f9d05d9f
9:139399158 NOTCH1 C>T	9	139399158	139399158	C	T	NOTCH1	c.4985G>A	NM_017617.5	NP_060087.3:p.(Arg1662Gln)	NC_000009.11:g.139399158C>T	(Likely) benign	2 labs	b20d3eb0c7
14:51224101 NIN C>T	14	51224101	51224101	C	T	NIN	c.3647G>A	NM_020921.3	NP_065972.3:p.(Arg1216Gln)	NC_000014.8:g.51224101C>T	(Likely) benign	2 labs	b20e5a818a
12:2224542 CACNA1C G>A	12	2224542	2224542	G	A	CACNA1C	c.202G>A	NM_199460.3	NP_955630.3:p.(Ala68Thr)	NC_000012.11:g.2224542G>A	(Likely) benign	2 labs	b21096fba2
17:7909993 GUCY2D C>T	17	7909993	7909993	C	T	GUCY2D	c.1339C>T	NM_000180.3	NP_000171.1:p.(Pro447Ser)	NC_000017.10:g.7909993C>T	VUS	2 labs	b2121b7770
2:20131079 WDR35 T>C	2	20131079	20131079	T	C	WDR35	c.2948A>G	NM_001006657.2	NP_001006658.1:p.(Glu983Gly)	NC_000002.11:g.20131079T>C	(Likely) benign	3 labs	b21f5d05ee
13:32910351 BRCA2 G>T	13	32910351	32910351	G	T	BRCA2	c.1910-51G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32910351G>T	(Likely) benign	3 labs	b23300ea91
17:29677184 NF1 C>T	17	29677184	29677184	C	T	NF1	c.7322-17C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29677184C>T	(Likely) benign	2 labs	b22dabe993
11:794790 SLC25A22 G>A	11	794790	794790	G	A	SLC25A22	c.132C>T	NM_001191060.2	NP_001177989.1:p.(Arg44=)	NC_000011.9:g.794790G>A	(Likely) benign	3 labs	b23e04083e
5:42719344 GHR C>A	5	42719344	42719344	C	A	GHR	c.1735C>A	NM_000163.4	NP_000154.1:p.(Pro579Thr)	NC_000005.9:g.42719344C>A	(Likely) benign	2 labs	b25755362b
7:117282628 CFTR C>T	7	117282628	117282628	C	T	CFTR	c.3854C>T	NM_000492.3	NP_000483.3:p.(Ala1285Val)	NC_000007.13:g.117282628C>T	VUS	2 labs	b25a8d225e
X:99661913 PCDH19 C>T	X	99661913	99661913	C	T	PCDH19	c.1683G>A	NM_001184880.1	NP_001171809.1:p.(Pro561=)	NC_000023.10:g.99661913C>T	(Likely) benign	2 labs	b267b031f0
7:103180872 RELN A>G	7	103180872	103180872	A	G	RELN	c.6702T>C	NM_005045.4	NP_005036.2:p.(Cys2234=)	NC_000007.13:g.103180872A>G	(Likely) benign	2 labs	b27a4ceb21
8:100865941 VPS13B G>A	8	100865941	100865941	G	A	VPS13B	c.10399G>A	NM_017890.5	NP_060360.3:p.(Ala3467Thr)	NC_000008.10:g.100865941G>A	VUS	2 labs	b280f4d9b3
1:55470706 BSND C>T	1	55470706	55470706	C	T	BSND	c.189C>T	NM_057176.3	NP_476517.1:p.(Val63=)	NC_000001.10:g.55470706C>T	(Likely) benign	2 labs	b2806e23dd
10:75832516 VCL C>T	10	75832516	75832516	C	T	VCL	c.528C>T	NM_014000.3	NP_054706.1:p.(Asp176=)	NC_000010.10:g.75832516C>T	(Likely) benign	3 labs	b2855536f0
1:120548055 NOTCH2 T>C	1	120548055	120548055	T	C	NOTCH2	c.312A>G	NM_024408.4	NP_077719.2:p.(Ser104=)	NC_000001.10:g.120548055T>C	(Likely) benign	3 labs	b28deb4b8c
12:116421046 MED13L C>T	12	116421046	116421046	C	T	MED13L	c.4831G>A	NM_015335.4	NP_056150.1:p.(Val1611Ile)	NC_000012.11:g.116421046C>T	(Likely) benign	2 labs	b28ec71e05
16:3900991 CREBBP G>C	16	3900991	3900991	G	C	CREBBP	c.105C>G	NM_004380.3	NP_004371.2:p.(Asp35Glu)	NC_000016.9:g.3900991G>C	VUS	3 labs	b295b17970
7:66104036 KCTD7 T>C	7	66104036	66104036	T	C	KCTD7	c.687T>C	NM_153033.4	NP_694578.1:p.(Asp229=)	NC_000007.13:g.66104036T>C	(Likely) benign	2 labs	b29a625939
9:140093761 TPRN T>TG	9	140093761	140093767	T	TG	TPRN	c.1402dup	NM_001128228.3	NP_001121700.2:p.(Gln468ProfsTer68)	NC_000009.11:g.140093767dup	(Likely) pathogenic	2 labs	b29e5ffcdc
10:73572643 CDH23 T>C	10	73572643	73572643	T	C	CDH23	c.9629T>C	NM_022124.6	NP_071407.4:p.(Ile3210Thr)	NC_000010.10:g.73572643T>C	VUS	2 labs	b29a4ce629
18:55365047 ATP8B1 T>C	18	55365047	55365047	T	C	ATP8B1	c.607A>G	NM_005603.6	NP_005594.2:p.(Lys203Glu)	NC_000018.9:g.55365047T>C	VUS	2 labs	b2a533826e
5:37227410 CPLANE1 C>T	5	37227410	37227410	C	T	CPLANE1	c.1456G>A	NM_023073.3	NP_075561.3:p.(Asp486Asn)	NC_000005.9:g.37227410C>T	(Likely) benign	2 labs	b2a540848f
9:138664772 KCNT1 C>G	9	138664772	138664772	C	G	KCNT1	c.2220C>G	NM_020822.2	NP_065873.2:p.(Asp740Glu)	NC_000009.11:g.138664772C>G	(Likely) benign	2 labs	b2a618ac6e
22:31011644 TCN2 G>A	22	31011644	31011644	G	A	TCN2	c.729G>A	NM_001184726.1	NP_001171655.1:p.(Ala243=)	NC_000022.10:g.31011644G>A	(Likely) benign	2 labs	b2b0532155
6:138202314 TNFAIP3 G>A	6	138202314	138202314	G	A	TNFAIP3	c.2231G>A	NM_001270507.1	NP_001257436.1:p.(Gly744Asp)	NC_000006.11:g.138202314G>A	(Likely) benign	2 labs	b2b827dbbf
11:76914260 MYO7A T>C	11	76914260	76914260	T	C	MYO7A	c.5324T>C	NM_000260.4	NP_000251.3:p.(Ile1775Thr)	NC_000011.9:g.76914260T>C	(Likely) benign	2 labs	b2b1da3624
11:121038845 TECTA G>A	11	121038845	121038845	G	A	TECTA	c.5669G>A	NM_005422.2	NP_005413.2:p.(Arg1890His)	NC_000011.9:g.121038845G>A	VUS	3 labs	b2cbf5a657
17:41061435 G6PC1 G>C	17	41061435	41061435	G	C	G6PC1	c.485G>C	NM_001270397.1	NP_001257326.1:p.(Arg162Thr)	NC_000017.10:g.41061435G>C	(Likely) pathogenic	2 labs	b2cd6428ba
X:99551746 PCDH19 C>T	X	99551746	99551746	C	T	PCDH19	c.2976G>A	NM_001184880.1	NP_001171809.1:p.(Ala992=)	NC_000023.10:g.99551746C>T	(Likely) benign	2 labs	b2cf9dd3e4
8:10467624 RP1L1 T>TATTACTTTAGTCCCC	8	10467624	10467625	T	TATTACTTTAGTCCCC	RP1L1	c.3983_3984insGGGGACTAAAGTAAT	NM_178857.6	NP_849188.4:p.(Glu1328_Glu1329insGlyThrLysValIle)	NC_000008.10:g.10467624_10467625insATTACTTTAGTCCCC	(Likely) benign	2 labs	b2de4df019
4:15601208 CC2D2A G>A	4	15601208	15601208	G	A	CC2D2A	c.4553G>A	NM_001080522.2	NP_001073991.2:p.(Arg1518Gln)	NC_000004.11:g.15601208G>A	VUS	3 labs	b2e3836b60
19:41869392 B9D2 T>C	19	41869392	41869392	T	C	B9D2	c.33A>G	NM_030578.4	NP_085055.2:p.(Ile11Met)	NC_000019.9:g.41869392T>C	(Likely) benign	3 labs	b2e7f4bb55
2:179467029 TTN A>C	2	179467029	179467029	A	C	TTN	c.55100T>G	NM_001267550.1	NP_001254479.1:p.(Ile18367Ser)	NC_000002.11:g.179467029A>C	VUS	2 labs	b2f408defe
2:179563643 TTN TA>T	2	179563643	179563658	TA	T	TTN	c.30683-3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563658del	(Likely) benign	3 labs	b301716f0e
2:170103295 LRP2 C>T	2	170103295	170103295	C	T	LRP2	c.3110G>A	NM_004525.3	NP_004516.2:p.(Arg1037Lys)	NC_000002.11:g.170103295C>T	(Likely) benign	3 labs	b2ffe14145
5:176637211 NSD1 G>T	5	176637211	176637211	G	T	NSD1	c.1811G>T	NM_022455.4	NP_071900.2:p.(Arg604Leu)	NC_000005.9:g.176637211G>T	(Likely) benign	2 labs	b300824da3
7:117227865 CFTR C>T	7	117227865	117227865	C	T	CFTR	c.1657C>T	NM_000492.4	NP_000483.3:p.(Arg553Ter)	NC_000007.13:g.117227865C>T	(Likely) pathogenic	3 labs	b30d3c792a
6:66204945 EYS G>A	6	66204945	66204945	G	A	EYS	c.359C>T	NM_001142800.1	NP_001136272.1:p.(Thr120Met)	NC_000006.11:g.66204945G>A	(Likely) benign	2 labs	b30d308acd
5:149433888 CSF1R C>G	5	149433888	149433888	C	G	CSF1R	c.2760G>C	NM_005211.4	NP_005202.2:p.(Glu920Asp)	NC_000005.9:g.149433888C>G	(Likely) benign	3 labs	b30621d61a
17:78069129 CCDC40 G>A	17	78069129	78069129	G	A	CCDC40	c.2900G>A	NM_017950.3	NP_060420.2:p.(Arg967His)	NC_000017.10:g.78069129G>A	(Likely) benign	2 labs	b31142143d
15:89392909 ACAN A>G	15	89392909	89392909	A	G	ACAN	c.1973A>G	NM_013227.3	NP_037359.3:p.(Asn658Ser)	NC_000015.9:g.89392909A>G	VUS	3 labs	b31204ebf2
9:404995 DOCK8 G>C	9	404995	404995	G	C	DOCK8	c.3312G>C	NM_203447.4	NP_982272.2:p.(Glu1104Asp)	NC_000009.11:g.404995G>C	VUS	2 labs	b31a6d5ba8
18:44057797 LOXHD1 C>T	18	44057797	44057797	C	T	LOXHD1	c.6274G>A	NM_144612.6	NP_653213.6:p.(Val2092Ile)	NC_000018.9:g.44057797C>T	VUS	3 labs	b32a073c64
16:706424 WDR90 C>T	16	706424	706424	C	T	WDR90	c.2089C>T	NM_145294.5	NP_660337.3:p.(Arg697Cys)	NC_000016.9:g.706424C>T	VUS	2 labs	b32ba17965
2:170033089 LRP2 G>A	2	170033089	170033089	G	A	LRP2	c.10403C>T	NM_004525.3	NP_004516.2:p.(Pro3468Leu)	NC_000002.11:g.170033089G>A	(Likely) benign	2 labs	b32e8ef1f7
2:20130145 WDR35 T>G	2	20130145	20130145	T	G	WDR35	c.3154+12A>C	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20130145T>G	(Likely) benign	2 labs	b33e0bdea2
22:30054241 NF2 C>G	22	30054241	30054241	C	G	NF2	c.663C>G	NM_000268.3	NP_000259.1:p.(Tyr221Ter)	NC_000022.10:g.30054241C>G	(Likely) pathogenic	2 labs	b34250475b
17:44374853 LRRC37A G>A	17	44374853	44374853	G	A	LRRC37A	c.2354G>A	NM_014834.4	NP_055649.4:p.(Arg785Gln)	NC_000017.10:g.44374853G>A	(Likely) benign	2 labs	b33de48b35
14:57268516 OTX2 G>A	14	57268516	57268516	G	A	OTX2	c.807C>T	NM_001270524.2	NP_001257453.1:p.(Asn269=)	NC_000014.8:g.57268516G>A	(Likely) benign	2 labs	b3447c1188
16:28493465 CLN3 G>C	16	28493465	28493465	G	C	CLN3	c.1017C>G	NM_001042432.1	NP_001035897.1:p.(Cys339Trp)	NC_000016.9:g.28493465G>C	VUS	2 labs	b3544c91a0
16:56533706 BBS2 G>A	16	56533706	56533706	G	A	BBS2	c.1511C>T	NM_031885.5	NP_114091.4:p.(Ala504Val)	NC_000016.9:g.56533706G>A	(Likely) benign	4 labs	b352c6858b
19:54394965 PRKCG T>C	19	54394965	54394965	T	C	PRKCG	c.567T>C	NM_002739.5	NP_002730.1:p.(Asn189=)	NC_000019.9:g.54394965T>C	(Likely) benign	2 labs	b3597077cb
4:79437009 FRAS1 G>A	4	79437009	79437009	G	A	FRAS1	c.10231G>A	NM_025074.7	NP_079350.5:p.(Asp3411Asn)	NC_000004.11:g.79437009G>A	VUS	2 labs	b361859c17
17:41246804 BRCA1 G>A	17	41246804	41246804	G	A	BRCA1	c.744C>T	NM_007294.3	NP_009225.1:p.(Thr248=)	NC_000017.10:g.41246804G>A	(Likely) benign	2 labs	b362d935b5
8:116599406 TRPS1 C>T	8	116599406	116599406	C	T	TRPS1	c.2522G>A	NM_014112.4	NP_054831.2:p.(Arg841Lys)	NC_000008.10:g.116599406C>T	VUS	2 labs	b3684becad
16:51175743 SALL1 C>T	16	51175743	51175743	C	T	SALL1	c.390G>A	NM_002968.2	NP_002959.2:p.(Pro130=)	NC_000016.9:g.51175743C>T	(Likely) benign	2 labs	b368f37445
7:127341296 SND1 T>G	7	127341296	127341296	T	G	SND1	c.508T>G	NM_014390.3	NP_055205.2:p.(Ser170Ala)	NC_000007.13:g.127341296T>G	(Likely) benign	2 labs	b369ac02b7
4:1807460 FGFR3 G>A	4	1807460	1807460	G	A	FGFR3	c.1646-17G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807460G>A	(Likely) benign	3 labs	b36fbfbdda
22:21343111 LZTR1 G>A	22	21343111	21343111	G	A	LZTR1	c.543G>A	NM_006767.3	NP_006758.2:p.(Thr181=)	NC_000022.10:g.21343111G>A	(Likely) benign	2 labs	b370ea2c76
20:44044810 PIGT T>C	20	44044810	44044810	T	C	PIGT	c.14T>C	NM_015937.5	NP_057021.2:p.(Met5Thr)	NC_000020.10:g.44044810T>C	(Likely) benign	2 labs	b37ae6cd04
2:170050399 LRP2 T>C	2	170050399	170050399	T	C	LRP2	c.8702A>G	NM_004525.3	NP_004516.2:p.(His2901Arg)	NC_000002.11:g.170050399T>C	VUS	2 labs	b37c19ec5b
15:43903434 STRC C>T	15	43903434	43903434	C	T	STRC	c.3218G>A	NM_153700.2	NP_714544.1:p.(Arg1073Gln)	NC_000015.9:g.43903434C>T	VUS	2 labs	b37d49a08d
X:152031276 NSDHL C>T	X	152031276	152031276	C	T	NSDHL	c.543+8C>T	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.152031276C>T	(Likely) benign	2 labs	b37f68ae0e
11:94189501 MRE11 G>A	11	94189501	94189501	G	A	MRE11	c.1504C>T	NM_005591.4	NP_005582.1:p.(Arg502Cys)	NC_000011.9:g.94189501G>A	VUS	3 labs	b38b1f568b
11:47353732 MYBPC3 C>T	11	47353732	47353732	C	T	MYBPC3	c.3705G>A	NM_000256.3	NP_000247.2:p.(Val1235=)	NC_000011.9:g.47353732C>T	(Likely) benign	2 labs	b3908ef29a
12:14849245 GUCY2C G>A	12	14849245	14849245	G	A	GUCY2C	c.138C>T	NM_004963.3	NP_004954.2:p.(Ala46=)	NC_000012.11:g.14849245G>A	(Likely) benign	2 labs	b39d0bc705
15:84908900 GOLGA6L4 G>A	15	84908900	84908900	G	A	GOLGA6L4	c.794G>A	NM_001267536.3	NP_001254465.2:p.(Arg265His)	NC_000015.9:g.84908900G>A	(Likely) benign	2 labs	b39cb23e14
5:37247700 CPLANE1 G>A	5	37247700	37247700	G	A	CPLANE1	c.81+20C>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37247700G>A	(Likely) benign	2 labs	b3a17ee848
15:85411377 ALPK3 T>C	15	85411377	85411377	T	C	ALPK3	c.5414T>C	NM_020778.4	NP_065829.3:p.(Leu1805Pro)	NC_000015.9:g.85411377T>C	VUS	2 labs	b3a83b5b24
2:179424835 TTN G>A	2	179424835	179424835	G	A	TTN	c.86024C>T	NM_001267550.1	NP_001254479.1:p.(Pro28675Leu)	NC_000002.11:g.179424835G>A	VUS	2 labs	b3ad6afb9e
19:42410623 ARHGEF1 C>G	19	42410623	42410623	C	G	ARHGEF1	c.2551C>G	NM_199002.1	NP_945353.1:p.(Gln851Glu)	NC_000019.9:g.42410623C>G	(Likely) benign	2 labs	b3adf2fd09
5:149516607 PDGFRB G>A	5	149516607	149516607	G	A	PDGFRB	c.4C>T	NM_002609.3	NP_002600.1:p.(Arg2Trp)	NC_000005.9:g.149516607G>A	(Likely) benign	2 labs	b3bdc4cd90
2:179523214 TTN C>T	2	179523214	179523214	C	T	TTN	c.37608G>A	NM_001267550.2	NP_001254479.2:p.(Pro12536=)	NC_000002.11:g.179523214C>T	(Likely) benign	2 labs	b3ccc0d479
15:100537693 ADAMTS17 A>G	15	100537693	100537693	A	G	ADAMTS17	c.2693T>C	NM_139057.3	NP_620688.2:p.(Val898Ala)	NC_000015.9:g.100537693A>G	(Likely) benign	2 labs	b3c8a8b360
6:87966871 ZNF292 A>G	6	87966871	87966871	A	G	ZNF292	c.3524A>G	NM_015021.2	NP_055836.1:p.(Asn1175Ser)	NC_000006.11:g.87966871A>G	(Likely) benign	2 labs	b3d237234e
8:61707687 CHD7 G>A	8	61707687	61707687	G	A	CHD7				NC_000008.10:g.61707687G>A	(Likely) pathogenic	2 labs	b3d5009ab2
8:61655161 CHD7 T>C	8	61655161	61655161	T	C	CHD7	c.1170T>C	NM_017780.4	NP_060250.2:p.(Tyr390=)	NC_000008.10:g.61655161T>C	(Likely) benign	3 labs	b43f3b9708
20:31389229 DNMT3B G>A	20	31389229	31389229	G	A	DNMT3B	c.2142G>A	NM_006892.3	NP_008823.1:p.(Leu714=)	NC_000020.10:g.31389229G>A	(Likely) benign	2 labs	b3e10df405
3:121518221 IQCB1 A>G	3	121518221	121518221	A	G	IQCB1	c.588T>C	NM_001023570.4	NP_001018864.2:p.(Ser196=)	NC_000003.11:g.121518221A>G	(Likely) benign	4 labs	b3df8b2f4e
22:18562701 PEX26 C>T	22	18562701	18562701	C	T	PEX26	c.292C>T	NM_001127649.2	NP_001121121.1:p.(Arg98Trp)	NC_000022.10:g.18562701C>T	(Likely) pathogenic	3 labs	b3edbf630f
11:32456714 WT1 C>T	11	32456714	32456714	C	T	WT1				NC_000011.9:g.32456714C>T	(Likely) benign	2 labs	b3ee3868f2
6:88187196 SLC35A1 A>G	6	88187196	88187196	A	G	SLC35A1	c.133A>G	NM_006416.5	NP_006407.1:p.(Thr45Ala)	NC_000006.11:g.88187196A>G	(Likely) benign	2 labs	b3f31b4595
12:132633435 NOC4L ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC>A	12	132633435	132633501	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC	A	NOC4L	c.901+18_901+61del	NM_024078.3	NP_076983.1:p.?	NC_000012.11:g.132633458_132633501del	(Likely) benign	2 labs	b3f2e2c471
22:38153637 TRIOBP A>C	22	38153637	38153637	A	C	TRIOBP	c.5705A>C	NM_001039141.2	NP_001034230.1:p.(Lys1902Thr)	NC_000022.10:g.38153637A>C	VUS	3 labs	b3f31ff71e
X:119419061 TMEM255A G>A	X	119419061	119419061	G	A	TMEM255A	c.505C>T	NM_017938.3	NP_060408.3:p.(Pro169Ser)	NC_000023.10:g.119419061G>A	(Likely) benign	2 labs	b3ffdf7ba1
2:47604179 EPCAM G>A	2	47604179	47604179	G	A	EPCAM	c.518G>A	NM_002354.3	NP_002345.2:p.(Arg173His)	NC_000002.11:g.47604179G>A	VUS	2 labs	b400ea7eeb
16:2335647 ABCA3 C>T	16	2335647	2335647	C	T	ABCA3	c.3279G>A	NM_001089.3	NP_001080.2:p.(Glu1093=)	NC_000016.9:g.2335647C>T	(Likely) benign	2 labs	b418fbc331
6:16306858 ATXN1 G>A	6	16306858	16306858	G	A	ATXN1	c.2150C>T	NM_000332.3	NP_000323.2:p.(Ala717Val)	NC_000006.11:g.16306858G>A	(Likely) benign	2 labs	b411f5b5fe
1:197061086 ASPM A>C	1	197061086	197061086	A	C	ASPM	c.9395T>G	NM_018136.4	NP_060606.3:p.(Leu3132Arg)	NC_000001.10:g.197061086A>C	(Likely) benign	3 labs	b415322f9e
17:78084727 GAA G>A	17	78084727	78084727	G	A	GAA	c.1552-13G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78084727G>A	(Likely) benign	3 labs	b417ac1c7f
20:42788790 JPH2 G>A	20	42788790	42788790	G	A	JPH2	c.637C>T	NM_020433.5	NP_065166.2:p.(Arg213Trp)	NC_000020.10:g.42788790G>A	(Likely) benign	5 labs	b415d1f8dc
X:70342115 MED12 G>A	X	70342115	70342115	G	A	MED12	c.1167G>A	NM_005120.3	NP_005111.2:p.(Lys389=)	NC_000023.10:g.70342115G>A	(Likely) benign	3 labs	b418f1bf44
1:211280724 KCNH1 T>TA	1	211280724	211280738	T	TA	KCNH1	c.80-6dup	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211280738dup	(Likely) benign	5 labs	b41a8c9883
16:2147400 PKD1 G>A	16	2147400	2147400	G	A	PKD1	c.10325C>T	NM_001009944.2	NP_001009944.2:p.(Ala3442Val)	NC_000016.9:g.2147400G>A	(Likely) benign	3 labs	b42f53f0b0
2:44223023 LRPPRC G>C	2	44223023	44223023	G	C	LRPPRC	c.64C>G	NM_133259.3	NP_573566.2:p.(Leu22Val)	NC_000002.11:g.44223023G>C	(Likely) benign	2 labs	b43ed8becc
17:41215948 BRCA1 G>A	17	41215948	41215948	G	A	BRCA1	c.5095C>T	NM_007294.4	NP_009225.1:p.(Arg1699Trp)	NC_000017.10:g.41215948G>A	(Likely) pathogenic	7 labs	b4401320b4
2:220429979 OBSL1 C>T	2	220429979	220429979	C	T	OBSL1	c.2392G>A	NM_015311.2	NP_056126.1:p.(Gly798Ser)	NC_000002.11:g.220429979C>T	(Likely) benign	2 labs	b442f486c5
10:69991427 ATOH7 G>A	10	69991427	69991427	G	A	ATOH7	c.8C>T	NM_145178.3	NP_660161.1:p.(Ser3Phe)	NC_000010.10:g.69991427G>A	VUS	2 labs	b447011260
3:58090836 FLNB C>T	3	58090836	58090836	C	T	FLNB	c.1640C>T	NM_001164317.1	NP_001157789.1:p.(Ala547Val)	NC_000003.11:g.58090836C>T	VUS	2 labs	b44896cfe4
7:103393641 RELN G>A	7	103393641	103393641	G	A	RELN	c.565C>T	NM_005045.3	NP_005036.2:p.(His189Tyr)	NC_000007.13:g.103393641G>A	(Likely) benign	2 labs	b44bf76c22
4:78987180 FRAS1 T>G	4	78987180	78987180	T	G	FRAS1	c.108+10T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78987180T>G	(Likely) benign	2 labs	b44c2bd7de
12:88447488 CEP290 T>C	12	88447488	88447488	T	C	CEP290	c.7070A>G	NM_025114.3	NP_079390.3:p.(Glu2357Gly)	NC_000012.11:g.88447488T>C	(Likely) benign	2 labs	b459d7e866
11:26655792 ANO3 C>T	11	26655792	26655792	C	T	ANO3	c.1915C>T	NM_031418.4	NP_113606.2:p.(Leu639=)	NC_000011.9:g.26655792C>T	(Likely) benign	2 labs	b46033c858
X:41429004 CASK TA>T	X	41429004	41429014	TA	T	CASK	c.1504-6del	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41429014del	(Likely) benign	2 labs	b464af7a8b
6:51613199 PKHD1 G>A	6	51613199	51613199	G	A	PKHD1	c.9215C>T	NM_138694.3	NP_619639.3:p.(Ala3072Val)	NC_000006.11:g.51613199G>A	(Likely) benign	2 labs	b46c294a0e
2:179593449 TTN T>C	2	179593449	179593449	T	C	TTN	c.19204A>G	NM_001267550.2	NP_001254479.2:p.(Met6402Val)	NC_000002.11:g.179593449T>C	(Likely) benign	4 labs	b46f0a232d
4:72338589 SLC4A4 A>G	4	72338589	72338589	A	G	SLC4A4	c.1805A>G	NM_001098484.2	NP_001091954.1:p.(Lys602Arg)	NC_000004.11:g.72338589A>G	(Likely) benign	3 labs	b4741ee07e
8:55542179 RP1 C>T	8	55542179	55542179	C	T	RP1	c.5737C>T	NM_006269.2	NP_006260.1:p.(Leu1913Phe)	NC_000008.10:g.55542179C>T	VUS	2 labs	b47727a952
2:191850391 STAT1 A>G	2	191850391	191850391	A	G	STAT1	c.1222-5T>C	NM_007315.4	NP_009330.1:p.?	NC_000002.11:g.191850391A>G	(Likely) benign	4 labs	b4880a4966
1:234613920 TARBP1 G>T	1	234613920	234613920	G	T	TARBP1	c.930C>A	NM_005646.4	NP_005637.3:p.(Asn310Lys)	NC_000001.10:g.234613920G>T	(Likely) benign	2 labs	b4819744aa
19:55668397 TNNI3 C>T	19	55668397	55668397	C	T	TNNI3	c.108+21G>A	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668397C>T	(Likely) benign	2 labs	b485e53de9
X:2864096 ARSL C>T	X	2864096	2864096	C	T	ARSL	c.1009G>A	NM_001282628.1	NP_001269557.1:p.(Gly337Arg)	NC_000023.10:g.2864096C>T	VUS	2 labs	b4870b86c0
2:152581452 NEB A>T	2	152581452	152581452	A	T	NEB	c.426T>A	NM_001271208.1	NP_001258137.1:p.(Asp142Glu)	NC_000002.11:g.152581452A>T	VUS	2 labs	b48974a725
16:81954829 PLCG2 C>T	16	81954829	81954829	C	T	PLCG2	c.2262C>T	NM_002661.3	NP_002652.2:p.(Asp754=)	NC_000016.9:g.81954829C>T	(Likely) benign	2 labs	b48a52de4b
1:155449342 ASH1L T>C	1	155449342	155449342	T	C	ASH1L	c.3319A>G	NM_018489.3	NP_060959.2:p.(Ile1107Val)	NC_000001.10:g.155449342T>C	(Likely) benign	3 labs	b493393b2e
10:69881454 MYPN C>G	10	69881454	69881454	C	G	MYPN	c.259C>G	NM_032578.4	NP_115967.2:p.(Pro87Ala)	NC_000010.10:g.69881454C>G	(Likely) benign	2 labs	b497c7bb61
17:41063279 G6PC G>A	17	41063279	41063279	G	A	G6PC				NC_000017.10:g.41063279G>A	(Likely) benign	2 labs	b4a16e3302
20:31386332 DNMT3B G>A	20	31386332	31386332	G	A	DNMT3B	c.1557G>A	NM_006892.3	NP_008823.1:p.(Gln519=)	NC_000020.10:g.31386332G>A	(Likely) benign	2 labs	b4949e04e5
6:7583570 DSP T>A	6	7583570	7583570	T	A	DSP	c.6075T>A	NM_004415.2	NP_004406.2:p.(Pro2025=)	NC_000006.11:g.7583570T>A	(Likely) benign	3 labs	b49896f3de
2:179454028 TTN G>A	2	179454028	179454028	G	A	TTN	c.62424C>T	NM_001267550.1	NP_001254479.1:p.(Asp20808=)	NC_000002.11:g.179454028G>A	(Likely) benign	2 labs	b4a242761d
X:49082436 CACNA1F A>T	X	49082436	49082436	A	T	CACNA1F	c.1619T>A	NM_005183.4	NP_005174.2:p.(Phe540Tyr)	NC_000023.10:g.49082436A>T	(Likely) benign	2 labs	b4b7dfde0e
11:108155171 ATM C>A	11	108155171	108155171	C	A	ATM	c.3964C>A	NM_001351834.1	NP_001338763.1:p.(Leu1322Ile)	NC_000011.9:g.108155171C>A	VUS	2 labs	b4be80ef1e
16:30198804 CORO1A G>A	16	30198804	30198804	G	A	CORO1A	c.738G>A	NM_007074.3	NP_009005.1:p.(Gln246=)	NC_000016.9:g.30198804G>A	(Likely) benign	2 labs	b4d30de146
10:90699315 ACTA2 C>T	10	90699315	90699315	C	T	ACTA2	c.757G>A	NM_001613.4	NP_001604.1:p.(Gly253Arg)	NC_000010.10:g.90699315C>T	VUS	2 labs	b4d559f707
3:47162704 SETD2 G>A	3	47162704	47162704	G	A	SETD2	c.3422C>T	NM_014159.7	NP_054878.5:p.(Pro1141Leu)	NC_000003.11:g.47162704G>A	(Likely) benign	3 labs	b4da4ba8a3
1:63885051 ALG6 C>T	1	63885051	63885051	C	T	ALG6	c.998C>T	NM_013339.4	NP_037471.2:p.(Ala333Val)	NC_000001.10:g.63885051C>T	(Likely) pathogenic	4 labs	b4d79ad8a9
11:47365014 MYBPC3 C>T	11	47365014	47365014	C	T	MYBPC3	c.1223+29G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365014C>T	(Likely) benign	2 labs	b4e7c241a8
17:78092070 GAA C>T	17	78092070	78092070	C	T	GAA	c.2560C>T	NM_000152.3	NP_000143.2:p.(Arg854Ter)	NC_000017.10:g.78092070C>T	(Likely) pathogenic	4 labs	b4f33fa5b2
6:65300143 EYS G>C	6	65300143	65300143	G	C	EYS	c.5617C>G	NM_001142800.1	NP_001136272.1:p.(Leu1873Val)	NC_000006.11:g.65300143G>C	(Likely) benign	2 labs	b4f44cd618
8:43002207 HGSNAT G>A	8	43002207	43002207	G	A	HGSNAT	c.234+1G>A	NM_152419.2	NP_689632.2:p.?	NC_000008.10:g.43002207G>A	(Likely) pathogenic	2 labs	b4f4fa9c7a
18:43529486 EPG5 G>A	18	43529486	43529486	G	A	EPG5	c.1461C>T	NM_020964.3	NP_066015.2:p.(Pro487=)	NC_000018.9:g.43529486G>A	(Likely) benign	2 labs	b4f9d0d9e0
19:42486261 ATP1A3 G>C	19	42486261	42486261	G	C	ATP1A3	c.994-3C>G	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42486261G>C	VUS	2 labs	b4f9cd4d60
1:41285137 KCNQ4 G>C	1	41285137	41285137	G	C	KCNQ4	c.827G>C	NM_004700.3	NP_004691.2:p.(Trp276Ser)	NC_000001.10:g.41285137G>C	(Likely) pathogenic	2 labs	b4fed8a329
16:89350710 ANKRD11 G>A	16	89350710	89350710	G	A	ANKRD11	c.2240C>T	NM_013275.6	NP_037407.4:p.(Ser747Leu)	NC_000016.9:g.89350710G>A	(Likely) benign	3 labs	b501d8cffd
11:108168020 ATM C>T	11	108168020	108168020	C	T	ATM	c.4916C>T	NM_000051.3	NP_000042.3:p.(Pro1639Leu)	NC_000011.9:g.108168020C>T	VUS	2 labs	b508d1b615
17:17127302 FLCN G>T	17	17127302	17127302	G	T	FLCN	c.552C>A	NM_144997.7	NP_659434.2:p.(Asn184Lys)	NC_000017.10:g.17127302G>T	VUS	2 labs	b5037e77b4
11:111908155 DLAT C>T	11	111908155	111908155	C	T	DLAT	c.946C>T	NM_001931.5	NP_001922.2:p.(Pro316Ser)	NC_000011.9:g.111908155C>T	(Likely) benign	2 labs	b517771673
2:44527104 SLC3A1 C>G	2	44527104	44527104	C	G	SLC3A1	c.892-6C>G	NM_000341.3	NP_000332.2:p.?	NC_000002.11:g.44527104C>G	(Likely) benign	2 labs	b5157924cf
6:65301504 EYS A>G	6	65301504	65301504	A	G	EYS	c.4256T>C	NM_001142800.2	NP_001136272.1:p.(Leu1419Ser)	NC_000006.11:g.65301504A>G	(Likely) benign	3 labs	b51fd5d816
12:32994086 PKP2 C>T	12	32994086	32994086	C	T	PKP2	c.1564G>A	NM_004572.4	NP_004563.2:p.(Glu522Lys)	NC_000012.11:g.32994086C>T	VUS	2 labs	b524d2abb5
1:205180578 DSTYK C>T	1	205180578	205180578	C	T	DSTYK	c.86G>A	NM_015375.2	NP_056190.1:p.(Arg29Gln)	NC_000001.10:g.205180578C>T	VUS	2 labs	b52d570b1f
6:110081591 FIG4 A>G	6	110081591	110081591	A	G	FIG4	c.1271+5A>G	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110081591A>G	(Likely) benign	2 labs	b543d1c79e
11:47372949 MYBPC3 C>T	11	47372949	47372949	C	T	MYBPC3	c.133G>A	NM_000256.3	NP_000247.2:p.(Gly45Arg)	NC_000011.9:g.47372949C>T	VUS	2 labs	b5449081a6
9:124074700 GSN C>T	9	124074700	124074700	C	T	GSN	c.597C>T	NM_001353053.1	NP_001339982.1:p.(Asn199=)	NC_000009.11:g.124074700C>T	(Likely) benign	3 labs	b54dc972ad
17:29559061 NF1 A>AT	17	29559061	29559087	A	AT	NF1	c.3198-4dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559087dup	(Likely) benign	2 labs	b55682c674
X:153593821 FLNA C>T	X	153593821	153593821	C	T	FLNA	c.1463G>A	NM_001110556.2	NP_001104026.1:p.(Arg488Gln)	NC_000023.10:g.153593821C>T	VUS	2 labs	b55be2f4f8
6:33138892 COL11A2 G>A	6	33138892	33138892	G	A	COL11A2	c.3365C>T	NM_080680.2	NP_542411.2:p.(Ala1122Val)	NC_000006.11:g.33138892G>A	VUS	2 labs	b55be812fb
8:100589861 VPS13B G>T	8	100589861	100589861	G	T	VPS13B	c.5295G>T	NM_017890.4	NP_060360.3:p.(Glu1765Asp)	NC_000008.10:g.100589861G>T	VUS	2 labs	b55d9d195c
21:47832836 PCNT A>G	21	47832836	47832836	A	G	PCNT	c.6080A>G	NM_006031.5	NP_006022.3:p.(Gln2027Arg)	NC_000021.8:g.47832836A>G	(Likely) benign	2 labs	b5651f30ff
1:235866186 LYST C>T	1	235866186	235866186	C	T	LYST	c.10235G>A	NM_000081.3	NP_000072.2:p.(Arg3412His)	NC_000001.10:g.235866186C>T	VUS	2 labs	b5689682be
17:78184679 SGSH CG>C	17	78184679	78184681	CG	C	SGSH	c.1080del	NM_000199.5	NP_000190.1:p.(Val361SerfsTer52)	NC_000017.10:g.78184681del	(Likely) pathogenic	2 labs	b56992ab61
10:89624312 PTEN A>T	10	89624312	89624312	A	T	PTEN	c.-627+7A>T	NM_001304718.2	NP_001291647.1:p.?	NC_000010.10:g.89624312A>T	(Likely) benign	4 labs	b56bb5536d
16:2158837 PKD1 C>T	16	2158837	2158837	C	T	PKD1	c.6331G>A	NM_001009944.2	NP_001009944.2:p.(Glu2111Lys)	NC_000016.9:g.2158837C>T	(Likely) benign	2 labs	b57129b07d
8:63973903 TTPA CT>C	8	63973903	63973905	CT	C	TTPA	c.744del	NM_000370.3	NP_000361.1:p.(Glu249AsnfsTer15)	NC_000008.10:g.63973905del	(Likely) pathogenic	2 labs	b574bd7478
16:81939089 PLCG2 T>C	16	81939089	81939089	T	C	PLCG2	c.1444T>C	NM_002661.3	NP_002652.2:p.(Tyr482His)	NC_000016.9:g.81939089T>C	(Likely) benign	4 labs	b57fbd95a1
13:23911820 SACS A>G	13	23911820	23911820	A	G	SACS	c.6195T>C	NM_014363.5	NP_055178.3:p.(Ile2065=)	NC_000013.10:g.23911820A>G	(Likely) benign	2 labs	b581dc6867
22:19750797 TBX1 C>T	22	19750797	19750797	C	T	TBX1	c.444C>T	NM_080647.1	NP_542378.1:p.(Phe148=)	NC_000022.10:g.19750797C>T	(Likely) benign	2 labs	b5806df66b
6:32552137 HLA-DRB1 G>GA	6	32552137	32552138	G	GA	HLA-DRB1	c.118_119insT	NM_002124.4	NP_002115.2:p.(Pro40LeufsTer2)	NC_000006.11:g.32552137_32552138insA	(Likely) benign	3 labs	b580e2ee2f
20:57897443 EDN3 G>GA	20	57897443	57897449	G	GA	EDN3	c.565dup	NM_207032.2	NP_996915.1:p.(Thr189AsnfsTer63)	NC_000020.10:g.57897449dup	VUS	2 labs	b58ad1c475
1:243736210 AKT3 CT>C	1	243736210	243736225	CT	C	AKT3	c.819+17del	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243736225del	(Likely) benign	2 labs	b5905037ff
3:10091049 FANCD2 C>T	3	10091049	10091049	C	T	FANCD2	c.1414-9C>T	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10091049C>T	(Likely) benign	2 labs	b599d54132
1:43396306 SLC2A1 G>A	1	43396306	43396306	G	A	SLC2A1	c.507C>T	NM_006516.3	NP_006507.2:p.(Leu169=)	NC_000001.10:g.43396306G>A	(Likely) benign	2 labs	b5a35c4064
X:38150286 RPGR A>G	X	38150286	38150286	A	G	RPGR	c.1507-9T>C	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38150286A>G	(Likely) benign	2 labs	b5aa9e9c3a
15:31359333 TRPM1 C>T	15	31359333	31359333	C	T	TRPM1	c.602G>A	NM_001252020.1	NP_001238949.1:p.(Arg201Gln)	NC_000015.9:g.31359333C>T	VUS	2 labs	b5bb5aef96
19:6714079 C3 C>T	19	6714079	6714079	C	T	C3	c.697G>A	NM_000064.2	NP_000055.2:p.(Glu233Lys)	NC_000019.9:g.6714079C>T	VUS	2 labs	b5c491a75b
21:34660525 IL10RB G>A	21	34660525	34660525	G	A	IL10RB				NC_000021.8:g.34660525G>A	(Likely) benign	2 labs	b5c6615433
16:50741791 NOD2 C>T	16	50741791	50741791	C	T	NOD2	c.566C>T	NM_022162.3	NP_071445.1:p.(Thr189Met)	NC_000016.9:g.50741791C>T	(Likely) benign	3 labs	b5cc94a07a
1:9778766 PIK3CD C>T	1	9778766	9778766	C	T	PIK3CD	c.1035C>T	NM_005026.3	NP_005017.3:p.(Ala345=)	NC_000001.10:g.9778766C>T	(Likely) benign	2 labs	b5d7feac04
12:112926873 PTPN11 G>T	12	112926873	112926873	G	T	PTPN11	c.1493G>T	NM_002834.3	NP_002825.3:p.(Arg498Leu)	NC_000012.11:g.112926873G>T	(Likely) pathogenic	2 labs	b5dc63b09b
15:89398266 ACAN T>C	15	89398266	89398266	T	C	ACAN	c.2450T>C	NM_013227.3	NP_037359.3:p.(Leu817Pro)	NC_000015.9:g.89398266T>C	(Likely) benign	2 labs	b5e14e581d
14:102453073 DYNC1H1 A>G	14	102453073	102453073	A	G	DYNC1H1	c.2511A>G	NM_001376.5	NP_001367.2:p.(Ala837=)	NC_000014.8:g.102453073A>G	(Likely) benign	2 labs	b5d80f59e4
4:128632219 INTU T>C	4	128632219	128632219	T	C	INTU	c.2521T>C	NM_015693.4	NP_056508.2:p.(Ser841Pro)	NC_000004.11:g.128632219T>C	VUS	2 labs	b5eb913444
6:56457044 DST T>C	6	56457044	56457044	T	C	DST	c.6482A>G	NM_001144769.5	NP_001138241.1:p.(Lys2161Arg)	NC_000006.11:g.56457044T>C	(Likely) benign	2 labs	b5e38bfb5c
13:110838759 COL4A1 C>A	13	110838759	110838759	C	A	COL4A1	c.1870G>T	NM_001845.6	NP_001836.3:p.(Gly624Ter)	NC_000013.10:g.110838759C>A	(Likely) pathogenic	2 labs	b5ea8b75cf
4:6303322 WFS1 C>T	4	6303322	6303322	C	T	WFS1	c.1800C>T	NM_006005.3	NP_005996.2:p.(Thr600=)	NC_000004.11:g.6303322C>T	(Likely) benign	3 labs	b5ff9be4c5
15:90176906 KIF7 G>T	15	90176906	90176906	G	T	KIF7	c.2592+11C>A	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176906G>T	(Likely) benign	2 labs	b5fc3e073a
6:112537685 LAMA4 C>G	6	112537685	112537685	C	G	LAMA4	c.196-15G>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112537685C>G	(Likely) benign	4 labs	b602801630
6:32814958 TAP1 G>A	6	32814958	32814958	G	A	TAP1	c.2107C>T	NM_000593.5	NP_000584.2:p.(Leu703=)	NC_000006.11:g.32814958G>A	(Likely) benign	2 labs	b614100a64
15:25615844 UBE3A CATAAT>C	15	25615844	25615854	CATAAT	C	UBE3A	c.1472_1476del	NM_130839.5	NP_570854.1:p.(Tyr491Ter)	NC_000015.9:g.25615850_25615854del	(Likely) pathogenic	2 labs	b6253a41b2
1:237821261 RYR2 A>T	1	237821261	237821261	A	T	RYR2	c.8147A>T	NM_001035.3	NP_001026.2:p.(Lys2716Ile)	NC_000001.10:g.237821261A>T	VUS	3 labs	b6278d7ad8
1:247588140 NLRP3 C>T	1	247588140	247588140	C	T	NLRP3	c.1389C>T	NM_001243133.1	NP_001230062.1:p.(His463=)	NC_000001.10:g.247588140C>T	(Likely) benign	3 labs	b62f4aab68
18:7032153 LAMA1 C>T	18	7032153	7032153	C	T	LAMA1	c.2186G>A	NM_005559.3	NP_005550.2:p.(Arg729His)	NC_000018.9:g.7032153C>T	(Likely) benign	2 labs	b62f56dae5
15:23889758 MAGEL2 C>T	15	23889758	23889758	C	T	MAGEL2	c.3132G>A	NM_019066.5	NP_061939.3:p.(Ser1044=)	NC_000015.9:g.23889758C>T	(Likely) benign	2 labs	b62d84dfdc
3:38646321 SCN5A C>T	3	38646321	38646321	C	T	SCN5A	c.1417G>A	NM_198056.2	NP_932173.1:p.(Glu473Lys)	NC_000003.11:g.38646321C>T	VUS	2 labs	b63b425047
X:110973633 ALG13 TGAA>T	X	110973633	110973639	TGAA	T	ALG13	c.2149_2151del	NM_001257231.2	NP_001244160.1:p.(Glu717del)	NC_000023.10:g.110973637_110973639del	(Likely) benign	4 labs	b641339a28
16:15815276 MYH11 T>C	16	15815276	15815276	T	C	MYH11	c.4599+3A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15815276T>C	(Likely) benign	4 labs	b646fddf0d
13:32937473 BRCA2 G>A	13	32937473	32937473	G	A	BRCA2	c.8134G>A	NM_000059.4	NP_000050.3:p.(Asp2712Asn)	NC_000013.10:g.32937473G>A	(Likely) benign	6 labs	b652268c9a
8:55538721 RP1 ATAAAT>A	8	55538721	55538731	ATAAAT	A	RP1	c.2285_2289del	NM_006269.2	NP_006260.1:p.(Leu762TyrfsTer17)	NC_000008.10:g.55538727_55538731del	(Likely) pathogenic	2 labs	b650f8b9b1
3:33099713 GLB1 G>A	3	33099713	33099713	G	A	GLB1	c.601C>T	NM_000404.3	NP_000395.2:p.(Arg201Cys)	NC_000003.11:g.33099713G>A	(Likely) pathogenic	2 labs	b658b628af
6:74310100 SLC17A5 C>T	6	74310100	74310100	C	T	SLC17A5	c.1324G>A	NM_012434.5	NP_036566.1:p.(Val442Ile)	NC_000006.11:g.74310100C>T	(Likely) benign	3 labs	b661c802a2
10:124810704 ACADSB TAA>T	10	124810704	124810728	TAA	T	ACADSB	c.1128+25_1128+26del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124810727_124810728del	(Likely) benign	2 labs	b6646c789e
9:134386744 POMT1 T>C	9	134386744	134386744	T	C	POMT1	c.876T>C	NM_001136113.2	NP_001129585.1:p.(Thr292=)	NC_000009.11:g.134386744T>C	(Likely) benign	3 labs	b66cb76ab3
4:6303878 WFS1 G>A	4	6303878	6303878	G	A	WFS1	c.2356G>A	NM_006005.3	NP_005996.2:p.(Gly786Ser)	NC_000004.11:g.6303878G>A	(Likely) benign	3 labs	b66f3d1790
2:190619933 OSGEPL1 G>C	2	190619933	190619933	G	C	OSGEPL1	c.575C>G	NM_022353.3	NP_071748.2:p.(Ser192Cys)	NC_000002.11:g.190619933G>C	VUS	2 labs	b67e986047
2:47287966 TTC7A G>A	2	47287966	47287966	G	A	TTC7A	c.2283G>A	NM_001288951.1	NP_001275880.1:p.(Ala761=)	NC_000002.11:g.47287966G>A	(Likely) benign	2 labs	b68254803d
22:41911805 ACO2 G>C	22	41911805	41911805	G	C	ACO2	c.719G>C	NM_001098.3	NP_001089.1:p.(Gly240Ala)	NC_000022.10:g.41911805G>C	VUS	4 labs	b686728d7e
20:3218217 SLC4A11 A>G	20	3218217	3218217	A	G	SLC4A11	c.190T>C	NM_001174090.1	NP_001167561.1:p.(Ser64Pro)	NC_000020.10:g.3218217A>G	VUS	2 labs	b6929b9418
X:53280341 IQSEC2 C>T	X	53280341	53280341	C	T	IQSEC2	c.1417G>A	NM_001111125.2	NP_001104595.1:p.(Glu473Lys)	NC_000023.10:g.53280341C>T	VUS	2 labs	b693551a76
14:23859590 MYH6 C>T	14	23859590	23859590	C	T	MYH6	c.3408G>A	NM_002471.4	NP_002462.2:p.(Lys1136=)	NC_000014.8:g.23859590C>T	(Likely) benign	3 labs	b68afb4fd9
12:1902912 CACNA2D4 T>G	12	1902912	1902912	T	G	CACNA2D4	c.3323A>C	NM_172364.5	NP_758952.4:p.(Asp1108Ala)	NC_000012.11:g.1902912T>G	VUS	2 labs	b6911e4ebe
16:2820460 SRRM2 A>G	16	2820460	2820460	A	G	SRRM2	c.8129A>G	NM_016333.4	NP_057417.3:p.(Gln2710Arg)	NC_000016.9:g.2820460A>G	(Likely) benign	2 labs	b69aa0619a
8:133187777 KCNQ3 C>T	8	133187777	133187777	C	T	KCNQ3	c.856G>A	NM_004519.3	NP_004510.1:p.(Val286Ile)	NC_000008.10:g.133187777C>T	VUS	2 labs	b69d2786ed
13:32914460 BRCA2 GA>G	13	32914460	32914461	GA	G	BRCA2	c.5969del	NM_000059.4	NP_000050.3:p.(Asp1990ValfsTer14)	NC_000013.10:g.32914461del	(Likely) pathogenic	2 labs	b6aa166217
3:9970020 IL17RC C>T	3	9970020	9970020	C	T	IL17RC	c.1122C>T	NM_153461.3	NP_703191.1:p.(Ala374=)	NC_000003.11:g.9970020C>T	(Likely) benign	2 labs	b6aa337dd4
9:75435840 TMC1 G>A	9	75435840	75435840	G	A	TMC1	c.1846G>A	NM_138691.2	NP_619636.2:p.(Val616Ile)	NC_000009.11:g.75435840G>A	VUS	2 labs	b6ab0de56c
16:31500094 SLC5A2 G>A	16	31500094	31500094	G	A	SLC5A2	c.1280+1G>A	NM_003041.3	NP_003032.1:p.?	NC_000016.9:g.31500094G>A	(Likely) pathogenic	2 labs	b6ada46df2
17:62049575 SCN4A T>G	17	62049575	62049575	T	G	SCN4A	c.403A>C	NM_000334.4	NP_000325.4:p.(Met135Leu)	NC_000017.10:g.62049575T>G	(Likely) benign	2 labs	b6b273e34a
19:38973951 RYR1 G>A	19	38973951	38973951	G	A	RYR1	c.4729G>A	NM_000540.2	NP_000531.2:p.(Ala1577Thr)	NC_000019.9:g.38973951G>A	VUS	2 labs	b6b3f31a4a
X:135757177 ARHGEF6 C>A	X	135757177	135757177	C	A	ARHGEF6	c.2024G>T	NM_004840.2	NP_004831.1:p.(Gly675Val)	NC_000023.10:g.135757177C>A	VUS	2 labs	b6d311096a
1:201328758 TNNT2 G>A	1	201328758	201328758	G	A	TNNT2	c.835C>T	NM_000364.4	NP_000355.2:p.(Gln279Ter)	NC_000001.10:g.201328758G>A	(Likely) pathogenic	2 labs	b6d48625a9
9:2729470 KCNV2 G>A	9	2729470	2729470	G	A	KCNV2	c.1381G>A	NM_133497.3	NP_598004.1:p.(Gly461Arg)	NC_000009.11:g.2729470G>A	(Likely) pathogenic	2 labs	b6e09d08f2
X:23731321 ACOT9 T>C	X	23731321	23731321	T	C	ACOT9	c.386A>G	NM_001330259.1	NP_001317188.1:p.(His129Arg)	NC_000023.10:g.23731321T>C	(Likely) benign	3 labs	b6e26a26d8
2:179576820 TTN C>A	2	179576820	179576820	C	A	TTN	c.27737G>T	NM_001267550.2	NP_001254479.2:p.(Arg9246Ile)	NC_000002.11:g.179576820C>A	VUS	3 labs	b6e1ed97d1
7:117267592 CFTR G>T	7	117267592	117267592	G	T	CFTR	c.3485G>T	NM_000492.4	NP_000483.3:p.(Arg1162Leu)	NC_000007.13:g.117267592G>T	VUS	2 labs	b6e4d1fc46
14:102482399 DYNC1H1 C>T	14	102482399	102482399	C	T	DYNC1H1	c.7449C>T	NM_001376.5	NP_001367.2:p.(Ile2483=)	NC_000014.8:g.102482399C>T	(Likely) benign	3 labs	b6e7c4e44b
11:76905441 MYO7A G>C	11	76905441	76905441	G	C	MYO7A	c.4195G>C	NM_000260.3	NP_000251.3:p.(Asp1399His)	NC_000011.9:g.76905441G>C	VUS	3 labs	b6ebfbe81e
10:73464738 CDH23 G>A	10	73464738	73464738	G	A	CDH23	c.2804G>A	NM_022124.5	NP_071407.4:p.(Arg935His)	NC_000010.10:g.73464738G>A	VUS	2 labs	b6eca593fe
17:29541603 NF1 TGTAA>T	17	29541603	29541610	TGTAA	T	NF1	c.1527+4_1527+7del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29541607_29541610del	(Likely) pathogenic	2 labs	b6efb91f7c
13:32920938 BRCA2 T>C	13	32920938	32920938	T	C	BRCA2	c.6938-26T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32920938T>C	(Likely) benign	2 labs	b6f038b82a
19:17937720 JAK3 C>T	19	17937720	17937720	C	T	JAK3	c.3208-1G>A	NM_000215.4	NP_000206.2:p.?	NC_000019.9:g.17937720C>T	(Likely) pathogenic	3 labs	b6f7f50cd7
X:147919205 AFF2 C>A	X	147919205	147919205	C	A	AFF2	c.1121C>A	NM_002025.3	NP_002016.2:p.(Ser374Tyr)	NC_000023.10:g.147919205C>A	(Likely) benign	2 labs	b6f54fba45
1:97847998 DPYD A>G	1	97847998	97847998	A	G	DPYD	c.1925T>C	NM_000110.4	NP_000101.2:p.(Met642Thr)	NC_000001.10:g.97847998A>G	VUS	2 labs	b703ee5cdc
17:26732421 MISSING G>T	17	26732421	26732421	G	T	MISSING				NC_000017.10:g.26732421G>T	(Likely) benign	2 labs	b703667f70
4:110890153 EGF G>A	4	110890153	110890153	G	A	EGF	c.1602G>A	NM_001963.5	NP_001954.2:p.(Lys534=)	NC_000004.11:g.110890153G>A	(Likely) benign	2 labs	b7073eefa2
18:7080337 LAMA1 C>T	18	7080337	7080337	C	T	LAMA1	c.181G>A	NM_005559.3	NP_005550.2:p.(Val61Ile)	NC_000018.9:g.7080337C>T	(Likely) benign	2 labs	b70d0db813
16:2144180 PKD1 G>C	16	2144180	2144180	G	C	PKD1	c.10531C>G	NM_001009944.2	NP_001009944.2:p.(Leu3511Val)	NC_000016.9:g.2144180G>C	(Likely) benign	3 labs	b712437f64
12:103248932 PAH C>T	12	103248932	103248932	C	T	PAH	c.688G>A	NM_000277.3	NP_000268.1:p.(Val230Ile)	NC_000012.11:g.103248932C>T	(Likely) pathogenic	5 labs	b72265887e
7:70254986 AUTS2 C>T	7	70254986	70254986	C	T	AUTS2	c.2712C>T	NM_001127231.3	NP_001120703.1:p.(Ala904=)	NC_000007.13:g.70254986C>T	(Likely) benign	2 labs	b725870df2
7:73450878 ELN C>A	7	73450878	73450878	C	A	ELN	c.134-7C>A	NM_000501.3	NP_000492.2:p.?	NC_000007.13:g.73450878C>A	(Likely) benign	4 labs	b722155f20
21:34947983 SON C>T	21	34947983	34947983	C	T	SON	c.7105+10C>T	NM_138927.2	NP_620305.2:p.?	NC_000021.8:g.34947983C>T	(Likely) benign	2 labs	b739ebdaa1
3:63976466 ATXN7 C>G	3	63976466	63976466	C	G	ATXN7	c.1613C>G	NM_000333.4	NP_000324.1:p.(Ser538Cys)	NC_000003.11:g.63976466C>G	VUS	2 labs	b7347c6060
4:6302519 WFS1 G>A	4	6302519	6302519	G	A	WFS1	c.997G>A	NM_006005.3	NP_005996.2:p.(Val333Ile)	NC_000004.11:g.6302519G>A	(Likely) benign	3 labs	b73e2ed762
17:18025499 MYO15A C>T	17	18025499	18025499	C	T	MYO15A	c.3385C>T	NM_016239.3	NP_057323.3:p.(Arg1129Ter)	NC_000017.10:g.18025499C>T	(Likely) pathogenic	2 labs	b741290747
20:31386313 DNMT3B C>T	20	31386313	31386313	C	T	DNMT3B	c.1538C>T	NM_006892.3	NP_008823.1:p.(Ala513Val)	NC_000020.10:g.31386313C>T	(Likely) benign	2 labs	b745ed3cbe
16:1642227 IFT140 A>G	16	1642227	1642227	A	G	IFT140	c.584T>C	NM_014714.3	NP_055529.2:p.(Leu195Pro)	NC_000016.9:g.1642227A>G	VUS	2 labs	b74fb4eb93
13:39261565 FREM2 C>G	13	39261565	39261565	C	G	FREM2	c.84C>G	NM_207361.5	NP_997244.4:p.(Pro28=)	NC_000013.10:g.39261565C>G	(Likely) benign	2 labs	b7522a7e69
8:38283708 FGFR1 C>T	8	38283708	38283708	C	T	FGFR1	c.653G>A	NM_001174064.1	NP_001167535.1:p.(Gly218Asp)	NC_000008.10:g.38283708C>T	(Likely) pathogenic	2 labs	b756d4be08
15:73615031 HCN4 GGCCCCCGCTGCTCCCACT>G	15	73615031	73615060	GGCCCCCGCTGCTCCCACT	G	HCN4	c.3385_3402del	NM_005477.3	NP_005468.1:p.(Ser1129_Gly1134del)	NC_000015.9:g.73615043_73615060del	VUS	3 labs	b75b1a36c4
7:21894080 DNAH11 C>A	7	21894080	21894080	C	A	DNAH11				NC_000007.13:g.21894080C>A	(Likely) benign	2 labs	b75c4ed01f
1:152284568 FLG G>T	1	152284568	152284568	G	T	FLG	c.2794C>A	NM_002016.1	NP_002007.1:p.(Gln932Lys)	NC_000001.10:g.152284568G>T	(Likely) benign	2 labs	b75cfc4199
2:39294873 SOS1 T>C	2	39294873	39294873	T	C	SOS1	c.109A>G	NM_005633.3	NP_005624.2:p.(Thr37Ala)	NC_000002.11:g.39294873T>C	(Likely) benign	3 labs	b75d5d82b0
13:36903536 SPART T>C	13	36903536	36903536	T	C	SPART	c.1127A>G	NM_001142296.1	NP_001135768.1:p.(Asn376Ser)	NC_000013.10:g.36903536T>C	(Likely) benign	2 labs	b7676a8c1f
1:228558911 OBSCN C>A	1	228558911	228558911	C	A	OBSCN	c.23303C>A	NM_001271223.2	NP_001258152.2:p.(Pro7768His)	NC_000001.10:g.228558911C>A	(Likely) benign	2 labs	b767d10541
8:30973934 WRN G>A	8	30973934	30973934	G	A	WRN	c.2338G>A	NM_000553.4	NP_000544.2:p.(Val780Ile)	NC_000008.10:g.30973934G>A	VUS	2 labs	b76a2a329c
1:3329229 PRDM16 G>C	1	3329229	3329229	G	C	PRDM16	c.2468G>C	NM_022114.4	NP_071397.3:p.(Arg823Pro)	NC_000001.10:g.3329229G>C	(Likely) benign	6 labs	b770d683d8
5:13913885 DNAH5 A>G	5	13913885	13913885	A	G	DNAH5	c.1503T>C	NM_001369.3	NP_001360.1:p.(Ile501=)	NC_000005.9:g.13913885A>G	(Likely) benign	2 labs	b77579a43c
4:126370243 FAT4 C>T	4	126370243	126370243	C	T	FAT4	c.8072C>T	NM_024582.4	NP_078858.4:p.(Ser2691Leu)	NC_000004.11:g.126370243C>T	VUS	2 labs	b77e20ca5a
4:1807922 FGFR3 G>A	4	1807922	1807922	G	A	FGFR3	c.1959+22G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807922G>A	(Likely) benign	2 labs	b7837b9847
11:61544804 MYRF C>G	11	61544804	61544804	C	G	MYRF	c.1659C>G	NM_001127392.2	NP_001120864.1:p.(Thr553=)	NC_000011.9:g.61544804C>G	(Likely) benign	2 labs	b7876ced3c
11:66288733 BBS1 G>C	11	66288733	66288733	G	C	BBS1	c.724-8G>C	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66288733G>C	(Likely) benign	5 labs	b78f4fc922
16:89614534 SPG7 C>T	16	89614534	89614534	C	T	SPG7	c.1663+13C>T	NM_003119.3	NP_003110.1:p.?	NC_000016.9:g.89614534C>T	(Likely) benign	2 labs	b78e5a9873
13:40297531 COG6 G>T	13	40297531	40297531	G	T	COG6	c.1646G>T	NM_001145079.1	NP_001138551.1:p.(Gly549Val)	NC_000013.10:g.40297531G>T	(Likely) pathogenic	2 labs	b79055622b
21:47773103 PCNT C>A	21	47773103	47773103	C	A	PCNT	c.1542C>A	NM_006031.6	NP_006022.3:p.(Ser514=)	NC_000021.8:g.47773103C>A	(Likely) benign	2 labs	b7962328ad
13:39266382 FREM2 C>T	13	39266382	39266382	C	T	FREM2	c.4901C>T	NM_207361.5	NP_997244.4:p.(Thr1634Met)	NC_000013.10:g.39266382C>T	(Likely) benign	3 labs	b79990d3eb
13:32950842 BRCA2 C>A	13	32950842	32950842	C	A	BRCA2	c.8668C>A	NM_000059.4	NP_000050.3:p.(Leu2890Ile)	NC_000013.10:g.32950842C>A	(Likely) benign	4 labs	b795fb20d7
1:74808805 TNNI3K A>G	1	74808805	74808805	A	G	TNNI3K	c.874A>G	NM_015978.3	NP_057062.1:p.(Ile292Val)	NC_000001.10:g.74808805A>G	(Likely) benign	2 labs	b7a50226d9
3:121981056 CASR C>T	3	121981056	121981056	C	T	CASR	c.1174C>T	NM_001178065.2	NP_001171536.2:p.(Arg392Ter)	NC_000003.11:g.121981056C>T	(Likely) pathogenic	3 labs	b7aaff3da8
X:100403098 CENPI A>G	X	100403098	100403098	A	G	CENPI	c.2042A>G	NM_006733.3	NP_006724.2:p.(Asn681Ser)	NC_000023.10:g.100403098A>G	(Likely) benign	2 labs	b7aa3ba66d
6:7585988 DSP GGGATCTCGCTCC>G	6	7585988	7586014	GGGATCTCGCTCC	G	DSP	c.8508_8519del	NM_004415.4	NP_004406.2:p.(Ser2843_Arg2846del)	NC_000006.11:g.7586003_7586014del	(Likely) benign	2 labs	b7a89ac69a
16:1412038 GNPTG G>C	16	1412038	1412038	G	C	GNPTG	c.318-1G>C	NM_032520.4	NP_115909.1:p.?	NC_000016.9:g.1412038G>C	(Likely) pathogenic	2 labs	b7b3b138b2
3:4735389 ITPR1 C>G	3	4735389	4735389	C	G	ITPR1	c.4173C>G	NM_002222.7	NP_002213.5:p.(Ile1391Met)	NC_000003.11:g.4735389C>G	VUS	2 labs	b7b6c85419
15:34634318 NOP10 G>A	15	34634318	34634318	G	A	NOP10	c.55-9C>T	NM_018648.3	NP_061118.1:p.?	NC_000015.9:g.34634318G>A	(Likely) benign	2 labs	b7bf7560d9
1:5924056 NPHP4 C>T	1	5924056	5924056	C	T	NPHP4	c.4034G>A	NM_015102.4	NP_055917.1:p.(Gly1345Asp)	NC_000001.10:g.5924056C>T	VUS	2 labs	b7bf95aca2
X:108921491 ACSL4 T>C	X	108921491	108921491	T	C	ACSL4	c.929+3A>G	NM_022977.3	NP_075266.1:p.?	NC_000023.10:g.108921491T>C	(Likely) benign	3 labs	b7c24956fc
1:36933715 CSF3R A>G	1	36933715	36933715	A	G	CSF3R	c.1684T>C	NM_156039.3	NP_724781.1:p.(Tyr562His)	NC_000001.10:g.36933715A>G	(Likely) benign	2 labs	b7d21cab5b
16:3900713 CREBBP G>C	16	3900713	3900713	G	C	CREBBP	c.383C>G	NM_004380.3	NP_004371.2:p.(Ser128Cys)	NC_000016.9:g.3900713G>C	(Likely) benign	4 labs	b7ddce0bbe
2:179631326 TTN T>C	2	179631326	179631326	T	C	TTN	c.9485A>G	NM_001267550.1	NP_001254479.1:p.(Gln3162Arg)	NC_000002.11:g.179631326T>C	(Likely) benign	2 labs	b7e6e6cf06
14:68191306 RDH12 G>A	14	68191306	68191306	G	A	RDH12	c.185G>A	NM_152443.2	NP_689656.2:p.(Arg62Gln)	NC_000014.8:g.68191306G>A	VUS	2 labs	b7f618bbc3
1:35250942 GJB3 C>T	1	35250942	35250942	C	T	GJB3	c.579C>T	NM_024009.3	NP_076872.1:p.(Gly193=)	NC_000001.10:g.35250942C>T	(Likely) benign	2 labs	b7fe6b6a5a
17:78061872 CCDC40 G>A	17	78061872	78061872	G	A	CCDC40	c.2682G>A	NM_017950.3	NP_060420.2:p.(Ala894=)	NC_000017.10:g.78061872G>A	(Likely) benign	2 labs	b80062d97e
8:144999094 PLEC T>G	8	144999094	144999094	T	G	PLEC	c.5414A>C	NM_201380.3	NP_958782.1:p.(Glu1805Ala)	NC_000008.10:g.144999094T>G	(Likely) benign	2 labs	b809c1b966
8:63978563 TTPA C>T	8	63978563	63978563	C	T	TTPA	c.452G>A	NM_000370.3	NP_000361.1:p.(Arg151Gln)	NC_000008.10:g.63978563C>T	VUS	2 labs	b80bf58e0b
10:94397295 KIF11 A>T	10	94397295	94397295	A	T	KIF11	c.2153A>T	NM_004523.4	NP_004514.2:p.(His718Leu)	NC_000010.10:g.94397295A>T	(Likely) benign	2 labs	b80a4c8a2c
7:116199161 CAV1 C>T	7	116199161	116199161	C	T	CAV1	c.264C>T	NM_001172895.1	NP_001166366.1:p.(Phe88=)	NC_000007.13:g.116199161C>T	(Likely) benign	2 labs	b810691ffd
1:29528531 MECR C>T	1	29528531	29528531	C	T	MECR	c.452G>A	NM_001024732.3	NP_001019903.3:p.(Arg151Lys)	NC_000001.10:g.29528531C>T	(Likely) benign	2 labs	b8110d41de
16:776367 CCDC78 T>C	16	776367	776367	T	C	CCDC78	c.1A>G	NM_001031737.2	NP_001026907.2:p.(Met1?)	NC_000016.9:g.776367T>C	VUS	2 labs	b811d195a1
10:50678820 ERCC6 A>G	10	50678820	50678820	A	G	ERCC6	c.3186T>C	NM_000124.4	NP_000115.1:p.(Ser1062=)	NC_000010.10:g.50678820A>G	(Likely) benign	2 labs	b813da5b66
X:53280362 IQSEC2 C>CA	X	53280362	53280364	C	CA	IQSEC2	c.1402-7dup	NM_001111125.2	NP_001104595.1:p.?	NC_000023.10:g.53280364dup	(Likely) benign	2 labs	b81792370c
6:151726963 RMND1 A>G	6	151726963	151726963	A	G	RMND1	c.1209T>C	NM_017909.3	NP_060379.2:p.(Asn403=)	NC_000006.11:g.151726963A>G	(Likely) benign	2 labs	b81a2f2066
18:21118528 NPC1 G>C	18	21118528	21118528	G	C	NPC1	c.3019C>G	NM_000271.5	NP_000262.2:p.(Pro1007Ala)	NC_000018.9:g.21118528G>C	(Likely) pathogenic	3 labs	b82d256710
4:39219593 WDR19 T>C	4	39219593	39219593	T	C	WDR19	c.1357-10T>C	NM_025132.3	NP_079408.3:p.?	NC_000004.11:g.39219593T>C	(Likely) benign	2 labs	b82aa3ff4c
9:14737406 FREM1 G>A	9	14737406	14737406	G	A	FREM1	c.6528C>T	NM_144966.5	NP_659403.4:p.(Ser2176=)	NC_000009.11:g.14737406G>A	(Likely) benign	2 labs	b8304001cd
17:18057446 MYO15A T>C	17	18057446	18057446	T	C	MYO15A	c.8090T>C	NM_016239.3	NP_057323.3:p.(Val2697Ala)	NC_000017.10:g.18057446T>C	(Likely) pathogenic	2 labs	b8307af10b
6:33146747 COL11A2 G>A	6	33146747	33146747	G	A	COL11A2	c.1615C>T	NM_080680.2	NP_542411.2:p.(Arg539Trp)	NC_000006.11:g.33146747G>A	(Likely) benign	2 labs	b83a412e2a
12:15130981 PDE6H C>G	12	15130981	15130981	C	G	PDE6H	c.35C>G	NM_006205.2	NP_006196.1:p.(Ser12Ter)	NC_000012.11:g.15130981C>G	(Likely) pathogenic	2 labs	b8400fbb09
14:23888665 MYH7 A>T	14	23888665	23888665	A	T	MYH7	c.3853+27T>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23888665A>T	(Likely) benign	2 labs	b8454fc31c
17:1631124 WDR81 T>C	17	1631124	1631124	T	C	WDR81	c.2871T>C	NM_001163809.2	NP_001157281.1:p.(Asn957=)	NC_000017.10:g.1631124T>C	(Likely) benign	2 labs	b84596c4d7
X:32481662 DMD T>A	X	32481662	32481662	T	A	DMD	c.3326A>T	NM_004006.3	NP_003997.2:p.(Asn1109Ile)	NC_000023.10:g.32481662T>A	(Likely) benign	2 labs	b84699db9d
20:61048480 GATA5 G>A	20	61048480	61048480	G	A	GATA5	c.678C>T	NM_080473.4	NP_536721.1:p.(Leu226=)	NC_000020.10:g.61048480G>A	(Likely) benign	2 labs	b84f1c3274
14:74983580 LTBP2 C>T	14	74983580	74983580	C	T	LTBP2	c.2853G>A	NM_000428.3	NP_000419.1:p.(Ser951=)	NC_000014.8:g.74983580C>T	(Likely) benign	2 labs	b84f570775
2:15564574 NBAS A>G	2	15564574	15564574	A	G	NBAS	c.2442T>C	NM_015909.3	NP_056993.2:p.(Asn814=)	NC_000002.11:g.15564574A>G	(Likely) benign	2 labs	b84fb37ef9
8:77896206 PEX2 T>C	8	77896206	77896206	T	C	PEX2	c.209A>G	NM_001172086.1	NP_001165557.1:p.(Tyr70Cys)	NC_000008.10:g.77896206T>C	VUS	2 labs	b857d6b988
1:235894473 LYST C>T	1	235894473	235894473	C	T	LYST	c.8806G>A	NM_001301365.1	NP_001288294.1:p.(Val2936Ile)	NC_000001.10:g.235894473C>T	(Likely) benign	2 labs	b85aaa9947
11:2189814 TH C>T	11	2189814	2189814	C	T	TH	c.487G>A	NM_199292.2	NP_954986.2:p.(Val163Met)	NC_000011.9:g.2189814C>T	VUS	2 labs	b8a8a00bef
8:11415492 BLK A>C	8	11415492	11415492	A	C	BLK	c.974A>C	NM_001715.3	NP_001706.2:p.(Lys325Thr)	NC_000008.10:g.11415492A>C	(Likely) benign	2 labs	b86eedc987
10:69935059 MYPN A>G	10	69935059	69935059	A	G	MYPN	c.2565-21A>G	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69935059A>G	(Likely) benign	2 labs	b8706b57be
16:2122868 TSC2 C>T	16	2122868	2122868	C	T	TSC2	c.2239C>T	NM_000548.3	NP_000539.2:p.(Leu747=)	NC_000016.9:g.2122868C>T	(Likely) benign	2 labs	b8707f8ceb
19:15281611 NOTCH3 T>G	19	15281611	15281611	T	G	NOTCH3	c.4762A>C	NM_000435.2	NP_000426.2:p.(Asn1588His)	NC_000019.9:g.15281611T>G	VUS	2 labs	b8745f1aa4
10:73574949 CDH23 G>A	10	73574949	73574949	G	A	CDH23	c.9979G>A	NM_022124.5	NP_071407.4:p.(Ala3327Thr)	NC_000010.10:g.73574949G>A	VUS	2 labs	b87972a033
2:179414513 TTN T>G	2	179414513	179414513	T	G	TTN	c.91936A>C	NM_001267550.1	NP_001254479.1:p.(Asn30646His)	NC_000002.11:g.179414513T>G	VUS	2 labs	b87ab14034
4:79236852 FRAS1 G>A	4	79236852	79236852	G	A	FRAS1	c.1783G>A	NM_025074.7	NP_079350.5:p.(Gly595Ser)	NC_000004.11:g.79236852G>A	(Likely) benign	3 labs	b87ae0823d
X:129159337 BCORL1 G>A	X	129159337	129159337	G	A	BCORL1	c.4061G>A	NM_021946.5	NP_068765.3:p.(Arg1354Gln)	NC_000023.10:g.129159337G>A	(Likely) benign	2 labs	b883a4811c
7:6013049 PMS2 C>G	7	6013049	6013049	C	G	PMS2	c.2570G>C	NM_000535.7	NP_000526.2:p.(Gly857Ala)	NC_000007.13:g.6013049C>G	(Likely) benign	3 labs	b88cb01140
1:24019122 RPL11 C>T	1	24019122	24019122	C	T	RPL11	c.30C>T	NM_000975.5	NP_000966.2:p.(Asn10=)	NC_000001.10:g.24019122C>T	(Likely) benign	2 labs	b89199b745
18:72346701 ZNF407 T>C	18	72346701	72346701	T	C	ZNF407	c.3726T>C	NM_017757.3	NP_060227.2:p.(Gly1242=)	NC_000018.9:g.72346701T>C	(Likely) benign	2 labs	b8936e28b6
5:149776384 TCOF1 GAGA>G	5	149776384	149776394	GAGA	G	TCOF1	c.4332_4334del	NM_001371623.1	NP_001358552.1:p.(Lys1445del)	NC_000005.9:g.149776392_149776394del	(Likely) benign	2 labs	b8a4a4e582
1:22161215 HSPG2 G>A	1	22161215	22161215	G	A	HSPG2	c.10680C>T	NM_001291860.1	NP_001278789.1:p.(Asn3560=)	NC_000001.10:g.22161215G>A	(Likely) benign	2 labs	b8a5e99e83
12:49431813 KMT2D G>T	12	49431813	49431813	G	T	KMT2D	c.9326C>A	NM_003482.3	NP_003473.3:p.(Pro3109His)	NC_000012.11:g.49431813G>T	(Likely) benign	2 labs	b8aad3a073
19:34890197 GPI C>T	19	34890197	34890197	C	T	GPI	c.1472C>T	NM_001289789.1	NP_001276718.1:p.(Ala491Val)	NC_000019.9:g.34890197C>T	VUS	2 labs	b8ab482c85
2:98737884 VWA3B G>A	2	98737884	98737884	G	A	VWA3B	c.665G>A	NM_144992.5	NP_659429.4:p.(Arg222His)	NC_000002.11:g.98737884G>A	(Likely) benign	2 labs	b8b0407d7b
12:49444718 KMT2D C>T	12	49444718	49444718	C	T	KMT2D	c.2748G>A	NM_003482.3	NP_003473.3:p.(Pro916=)	NC_000012.11:g.49444718C>T	(Likely) benign	2 labs	b8cc039d79
19:1615722 TCF3 C>G	19	1615722	1615722	C	G	TCF3	c.1549G>C	NM_003200.5	NP_003191.1:p.(Glu517Gln)	NC_000019.9:g.1615722C>G	(Likely) benign	2 labs	b8d0f6a0cf
15:62292773 VPS13C G>A	15	62292773	62292773	G	A	VPS13C	c.1343C>T	NM_001018088.2	NP_001018098.1:p.(Ala448Val)	NC_000015.9:g.62292773G>A	VUS	2 labs	b8d15d628d
X:18944632 PHKA2 C>T	X	18944632	18944632	C	T	PHKA2	c.1398G>A	NM_000292.3	NP_000283.1:p.(Ala466=)	NC_000023.10:g.18944632C>T	(Likely) benign	2 labs	b8f3263283
7:21932167 DNAH11 C>T	7	21932167	21932167	C	T	DNAH11				NC_000007.13:g.21932167C>T	VUS	2 labs	b8f1023b99
7:4823008 AP5Z1 G>A	7	4823008	4823008	G	A	AP5Z1	c.428G>A	NM_014855.3	NP_055670.1:p.(Arg143Gln)	NC_000007.13:g.4823008G>A	(Likely) benign	2 labs	b8f1b4a49b
16:3293369 MEFV C>T	16	3293369	3293369	C	T	MEFV	c.2118G>A	NM_000243.2	NP_000234.1:p.(Pro706=)	NC_000016.9:g.3293369C>T	(Likely) benign	2 labs	b8f4aa643b
3:15677148 BTD C>G	3	15677148	15677148	C	G	BTD	c.202C>G	NM_001281723.3	NP_001268652.2:p.(Gln68Glu)	NC_000003.11:g.15677148C>G	(Likely) benign	3 labs	b8fdfba616
15:25615917 UBE3A T>C	15	25615917	25615917	T	C	UBE3A	c.1344A>G	NM_001354543.2	NP_001341472.1:p.(Thr448=)	NC_000015.9:g.25615917T>C	(Likely) benign	2 labs	b8fb7689b4
17:78085880 GAA G>A	17	78085880	78085880	G	A	GAA	c.1735G>A	NM_000152.5	NP_000143.2:p.(Glu579Lys)	NC_000017.10:g.78085880G>A	(Likely) pathogenic	2 labs	b8ff05b63a
X:53225905 KDM5C G>A	X	53225905	53225905	G	A	KDM5C	c.2944C>T	NM_004187.3	NP_004178.2:p.(Arg982Cys)	NC_000023.10:g.53225905G>A	VUS	2 labs	b9061e8f2a
6:137219308 PEX7 C>T	6	137219308	137219308	C	T	PEX7	c.832C>T	NM_000288.4	NP_000279.1:p.(Leu278Phe)	NC_000006.11:g.137219308C>T	VUS	2 labs	b90bb178f3
10:73560424 CDH23 G>A	10	73560424	73560424	G	A	CDH23	c.7394G>A	NM_022124.5	NP_071407.4:p.(Arg2465Gln)	NC_000010.10:g.73560424G>A	VUS	2 labs	b90a580d0e
3:58109211 FLNB A>C	3	58109211	58109211	A	C	FLNB	c.3518A>C	NM_001164317.1	NP_001157789.1:p.(Asp1173Ala)	NC_000003.11:g.58109211A>C	VUS	2 labs	b90d6bf65d
1:45798225 MUTYH G>T	1	45798225	45798225	G	T	MUTYH	c.690+21C>A	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45798225G>T	(Likely) benign	3 labs	b90a18ce40
9:139265810 CARD9 G>T	9	139265810	139265810	G	T	CARD9	c.288C>A	NM_052813.4	NP_434700.2:p.(Gly96=)	NC_000009.11:g.139265810G>T	(Likely) benign	2 labs	b913413791
17:7749972 KDM6B G>T	17	7749972	7749972	G	T	KDM6B	c.625G>T	NM_001080424.2	NP_001073893.1:p.(Val209Leu)	NC_000017.10:g.7749972G>T	(Likely) benign	2 labs	b9140dc3a3
1:27874772 AHDC1 C>G	1	27874772	27874772	C	G	AHDC1	c.3855G>C	NM_001029882.3	NP_001025053.1:p.(Glu1285Asp)	NC_000001.10:g.27874772C>G	VUS	2 labs	b91430e717
X:127185638 ACTRT1 A>AT	X	127185638	127185639	A	AT	ACTRT1	c.547dup	NM_138289.4	NP_612146.1:p.(Met183AsnfsTer17)	NC_000023.10:g.127185639dup	VUS	3 labs	b91d3954ed
4:15512850 CC2D2A T>G	4	15512850	15512850	T	G	CC2D2A	c.541-20T>G	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15512850T>G	(Likely) benign	2 labs	b92f0e4d1e
12:88524986 CEP290 G>A	12	88524986	88524986	G	A	CEP290	c.451C>T	NM_025114.3	NP_079390.3:p.(Arg151Ter)	NC_000012.11:g.88524986G>A	(Likely) pathogenic	3 labs	b9290bdaec
19:1003696 GRIN3B G>A	19	1003696	1003696	G	A	GRIN3B	c.994G>A	NM_138690.3	NP_619635.1:p.(Glu332Lys)	NC_000019.9:g.1003696G>A	(Likely) benign	2 labs	b92edeec13
6:117198561 RFX6 G>A	6	117198561	117198561	G	A	RFX6	c.123G>A	NM_173560.3	NP_775831.2:p.(Pro41=)	NC_000006.11:g.117198561G>A	(Likely) benign	2 labs	b93bde10f2
9:139409775 NOTCH1 C>T	9	139409775	139409775	C	T	NOTCH1	c.1981G>A	NM_017617.5	NP_060087.3:p.(Gly661Ser)	NC_000009.11:g.139409775C>T	VUS	3 labs	b93edd65d5
2:220348261 SPEG C>G	2	220348261	220348261	C	G	SPEG	c.6076C>G	NM_005876.4	NP_005867.3:p.(Arg2026Gly)	NC_000002.11:g.220348261C>G	(Likely) benign	2 labs	b94588f030
X:153580676 FLNA C>G	X	153580676	153580676	C	G	FLNA	c.6642G>C	NM_001110556.2	NP_001104026.1:p.(Val2214=)	NC_000023.10:g.153580676C>G	(Likely) benign	3 labs	b947ad8f94
9:123163109 CDK5RAP2 G>T	9	123163109	123163109	G	T	CDK5RAP2	c.5362C>A	NM_018249.6	NP_060719.4:p.(Leu1788Met)	NC_000009.11:g.123163109G>T	VUS	2 labs	b9519eb406
1:113642904 LRIG2 T>C	1	113642904	113642904	T	C	LRIG2	c.935T>C	NM_001312686.1	NP_001299615.1:p.(Leu312Pro)	NC_000001.10:g.113642904T>C	VUS	2 labs	b94ce53e83
21:47863757 PCNT A>C	21	47863757	47863757	A	C	PCNT	c.9735A>C	NM_006031.6	NP_006022.3:p.(Arg3245Ser)	NC_000021.8:g.47863757A>C	(Likely) benign	2 labs	b9596d0188
10:18787304 CACNB2 G>A	10	18787304	18787304	G	A	CACNB2	c.189G>A	NM_000724.4	NP_000715.2:p.(Ala63=)	NC_000010.10:g.18787304G>A	(Likely) benign	2 labs	b958b06319
17:36484067 GPR179 G>A	17	36484067	36484067	G	A	GPR179	c.5385C>T	NM_001004334.4	NP_001004334.3:p.(Gly1795=)	NC_000017.10:g.36484067G>A	(Likely) benign	2 labs	b95e8a8c43
17:61683783 TACO1 T>C	17	61683783	61683783	T	C	TACO1	c.498T>C	NM_016360.4	NP_057444.2:p.(His166=)	NC_000017.10:g.61683783T>C	(Likely) benign	2 labs	b961e94ada
3:142234335 ATR T>C	3	142234335	142234335	T	C	ATR	c.4405A>G	NM_001184.3	NP_001175.2:p.(Thr1469Ala)	NC_000003.11:g.142234335T>C	(Likely) benign	2 labs	b966d7ac44
2:109383166 RANBP2 G>A	2	109383166	109383166	G	A	RANBP2	c.6171G>A	NM_006267.4	NP_006258.3:p.(Leu2057=)	NC_000002.11:g.109383166G>A	(Likely) benign	2 labs	b96a4dfad5
18:72997856 TSHZ1 T>C	18	72997856	72997856	T	C	TSHZ1	c.359T>C	NM_005786.5	NP_005777.3:p.(Val120Ala)	NC_000018.9:g.72997856T>C	(Likely) benign	2 labs	b96be18767
2:48028135 MSH6 C>T	2	48028135	48028135	C	T	MSH6	c.3013C>T	NM_000179.2	NP_000170.1:p.(Arg1005Ter)	NC_000002.11:g.48028135C>T	(Likely) pathogenic	3 labs	b96f42ad73
19:853009 ELANE G>T	19	853009	853009	G	T	ELANE	c.201G>T	NM_001972.4	NP_001963.1:p.(Ser67=)	NC_000019.9:g.853009G>T	(Likely) benign	2 labs	b97728daf0
11:68213992 LRP5 G>A	11	68213992	68213992	G	A	LRP5	c.2834G>A	NM_001291902.1	NP_001278831.1:p.(Arg945Lys)	NC_000011.9:g.68213992G>A	VUS	2 labs	b981de656f
13:39357198 FREM2 T>C	13	39357198	39357198	T	C	FREM2	c.5642-9T>C	NM_207361.5	NP_997244.4:p.?	NC_000013.10:g.39357198T>C	(Likely) benign	2 labs	b982fff5ea
5:70936845 MCCC2 G>A	5	70936845	70936845	G	A	MCCC2	c.1015G>A	NM_022132.5	NP_071415.1:p.(Val339Met)	NC_000005.9:g.70936845G>A	(Likely) pathogenic	5 labs	b98e236196
8:72184119 EYA1 G>T	8	72184119	72184119	G	T	EYA1	c.840C>A	NM_000503.5	NP_000494.2:p.(Ile280=)	NC_000008.10:g.72184119G>T	(Likely) benign	2 labs	b99c03ec83
X:91132895 PCDH11X C>G	X	91132895	91132895	C	G	PCDH11X	c.1656C>G	NM_032968.5	NP_116750.1:p.(Ser552Arg)	NC_000023.10:g.91132895C>G	VUS	2 labs	b9a7fb8d1d
4:6302689 WFS1 T>G	4	6302689	6302689	T	G	WFS1	c.1167T>G	NM_006005.3	NP_005996.2:p.(Asp389Glu)	NC_000004.11:g.6302689T>G	VUS	2 labs	b9a2adbbb6
4:6279311 WFS1 A>T	4	6279311	6279311	A	T	WFS1	c.129A>T	NM_006005.3	NP_005996.2:p.(Ala43=)	NC_000004.11:g.6279311A>T	(Likely) benign	2 labs	b9a73203df
2:219920037 IHH A>G	2	219920037	219920037	A	G	IHH	c.1128T>C	NM_002181.4	NP_002172.2:p.(Thr376=)	NC_000002.11:g.219920037A>G	(Likely) benign	2 labs	b9af9c1032
16:56913514 SLC12A3 C>G	16	56913514	56913514	C	G	SLC12A3	c.1396C>G	NM_000339.2	NP_000330.2:p.(Leu466Val)	NC_000016.9:g.56913514C>G	VUS	2 labs	b9ba16aa8a
10:105815609 COL17A1 G>T	10	105815609	105815609	G	T	COL17A1	c.1618C>A	NM_000494.4	NP_000485.3:p.(Leu540Met)	NC_000010.10:g.105815609G>T	(Likely) benign	2 labs	b9bb362f60
7:128494922 FLNC G>C	7	128494922	128494922	G	C	FLNC	c.7091G>C	NM_001458.4	NP_001449.3:p.(Arg2364Pro)	NC_000007.13:g.128494922G>C	VUS	2 labs	b9be2a37df
6:76599951 MYO6 C>T	6	76599951	76599951	C	T	MYO6	c.2836C>T	NM_004999.3	NP_004990.3:p.(Arg946Cys)	NC_000006.11:g.76599951C>T	(Likely) benign	2 labs	b9c069756d
9:35061676 VCP G>A	9	35061676	35061676	G	A	VCP	c.1092C>T	NM_007126.5	NP_009057.1:p.(Asp364=)	NC_000009.11:g.35061676G>A	(Likely) benign	3 labs	b9d72545a4
16:89813075 FANCA G>A	16	89813075	89813075	G	A	FANCA	c.3430C>T	NM_000135.4	NP_000126.2:p.(Arg1144Trp)	NC_000016.9:g.89813075G>A	VUS	4 labs	b9e9349a88
19:13414594 CACNA1A C>T	19	13414594	13414594	C	T	CACNA1A	c.2094G>A	NM_023035.2	NP_075461.2:p.(Thr698=)	NC_000019.9:g.13414594C>T	(Likely) benign	2 labs	b9e6329fc1
15:74327556 PML C>T	15	74327556	74327556	C	T	PML	c.1754C>T	NM_033239.2	NP_150242.1:p.(Ala585Val)	NC_000015.9:g.74327556C>T	(Likely) benign	2 labs	b9f7beb3d2
12:1963173 CACNA2D4 C>T	12	1963173	1963173	C	T	CACNA2D4	c.2190G>A	NM_172364.5	NP_758952.4:p.(Ala730=)	NC_000012.11:g.1963173C>T	(Likely) benign	2 labs	b9fa2747d4
16:15851675 MYH11 GC>G	16	15851675	15851679	GC	G	MYH11	c.1575+8del	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15851679del	(Likely) benign	2 labs	ba025845e8
1:243493867 SDCCAG8 G>A	1	243493867	243493867	G	A	SDCCAG8	c.191G>A	NM_001350251.1	NP_001337180.1:p.(Arg64Lys)	NC_000001.10:g.243493867G>A	(Likely) benign	3 labs	ba04a73fdb
19:45855455 ERCC2 C>T	19	45855455	45855455	C	T	ERCC2	c.2190+12G>A	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45855455C>T	(Likely) benign	2 labs	ba086541b4
11:61725599 BEST1 A>ATCCTCCTCC	11	61725599	61725614	A	ATCCTCCTCC	BEST1	c.535-12_535-4dup	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61725606_61725614dup	(Likely) benign	2 labs	ba0adda75e
18:34289081 FHOD3 G>A	18	34289081	34289081	G	A	FHOD3	c.2260G>A	NM_001281740.3	NP_001268669.1:p.(Glu754Lys)	NC_000018.9:g.34289081G>A	(Likely) benign	2 labs	ba0bb0e6e4
22:17670854 ADA2 G>A	22	17670854	17670854	G	A	ADA2	c.950C>T	NM_001282225.2	NP_001269154.1:p.(Thr317Met)	NC_000022.10:g.17670854G>A	(Likely) benign	2 labs	ba1c81edab
X:77301953 ATP7A T>C	X	77301953	77301953	T	C	ATP7A	c.4389T>C	NM_000052.7	NP_000043.4:p.(Ser1463=)	NC_000023.10:g.77301953T>C	(Likely) benign	2 labs	ba1da9cc2e
8:145001791 PLEC G>A	8	145001791	145001791	G	A	PLEC	c.3954C>T	NM_201380.3	NP_958782.1:p.(Val1318=)	NC_000008.10:g.145001791G>A	(Likely) benign	3 labs	ba237d1ce6
1:27106106 ARID1A G>A	1	27106106	27106106	G	A	ARID1A	c.5717G>A	NM_006015.6	NP_006006.3:p.(Arg1906Gln)	NC_000001.10:g.27106106G>A	(Likely) benign	3 labs	ba28b56df5
11:792570 SLC25A22 G>A	11	792570	792570	G	A	SLC25A22	c.570C>T	NM_001191060.1	NP_001177989.1:p.(Leu190=)	NC_000011.9:g.792570G>A	(Likely) benign	2 labs	ba2ca1cc1d
1:154570938 ADAR G>A	1	154570938	154570938	G	A	ADAR	c.840C>T	NM_001193495.2	NP_001180424.1:p.(Ala280=)	NC_000001.10:g.154570938G>A	(Likely) benign	2 labs	ba38be9072
X:130678238 OR13H1 G>A	X	130678238	130678238	G	A	OR13H1	c.191G>A	NM_001004486.1	NP_001004486.1:p.(Ser64Asn)	NC_000023.10:g.130678238G>A	(Likely) benign	2 labs	ba350c7808
16:16291933 ABCC6 T>C	16	16291933	16291933	T	C	ABCC6	c.941A>G	NM_001351800.1	NP_001338729.1:p.(Asn314Ser)	NC_000016.9:g.16291933T>C	VUS	2 labs	ba394c5cd9
17:41245603 BRCA1 C>G	17	41245603	41245603	C	G	BRCA1	c.1945G>C	NM_007294.3	NP_009225.1:p.(Glu649Gln)	NC_000017.10:g.41245603C>G	VUS	2 labs	ba3a385882
20:57897432 EDN3 C>T	20	57897432	57897432	C	T	EDN3	c.548C>T	NM_207032.2	NP_996915.1:p.(Ser183Leu)	NC_000020.10:g.57897432C>T	VUS	2 labs	ba3f0a6ae0
22:37267701 NCF4 G>A	22	37267701	37267701	G	A	NCF4	c.478G>A	NM_013416.3	NP_038202.2:p.(Val160Met)	NC_000022.10:g.37267701G>A	(Likely) benign	2 labs	ba3fb5ab4d
20:30419813 MYLK2 G>A	20	30419813	30419813	G	A	MYLK2	c.1584G>A	NM_033118.4	NP_149109.1:p.(Arg528=)	NC_000020.10:g.30419813G>A	(Likely) benign	3 labs	ba4368a402
6:33145970 COL11A2 CACGGTGAGGG>C	6	33145970	33145980	CACGGTGAGGG	C	COL11A2	c.1819-18_1819-9del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33145971_33145980del	(Likely) benign	2 labs	ba45fcdaf1
4:100518337 MTTP A>G	4	100518337	100518337	A	G	MTTP	c.1023A>G	NM_000253.4	NP_000244.2:p.(Lys341=)	NC_000004.11:g.100518337A>G	(Likely) benign	2 labs	ba4c2e53e3
7:6036980 PMS2 G>C	7	6036980	6036980	G	C	PMS2	c.780C>G	NM_000535.7	NP_000526.2:p.(Ser260=)	NC_000007.13:g.6036980G>C	(Likely) benign	4 labs	ba51d85af5
11:65307330 LTBP3 G>A	11	65307330	65307330	G	A	LTBP3	c.3408C>T	NM_001130144.3	NP_001123616.1:p.(Asp1136=)	NC_000011.9:g.65307330G>A	(Likely) benign	3 labs	ba4d5a63d4
17:29654876 NF1 T>A	17	29654876	29654876	T	A	NF1	c.5546+19T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654876T>A	(Likely) benign	3 labs	ba5a8b470c
11:36597605 RAG1 G>A	11	36597605	36597605	G	A	RAG1	c.2751G>A	NM_000448.2	NP_000439.1:p.(Gln917=)	NC_000011.9:g.36597605G>A	(Likely) benign	2 labs	ba60bb9a9b
2:219137451 PNKD C>T	2	219137451	219137451	C	T	PNKD	c.395C>T	NM_001077399.3	NP_001070867.1:p.(Pro132Leu)	NC_000002.11:g.219137451C>T	(Likely) benign	3 labs	ba56d4972b
19:38949938 RYR1 G>A	19	38949938	38949938	G	A	RYR1	c.2320G>A	NM_000540.2	NP_000531.2:p.(Gly774Arg)	NC_000019.9:g.38949938G>A	VUS	2 labs	ba6469471d
2:63631308 WDPCP C>A	2	63631308	63631308	C	A	WDPCP	c.1238G>T	NM_001354044.1	NP_001340973.1:p.(Ser413Ile)	NC_000002.11:g.63631308C>A	(Likely) benign	3 labs	ba6af3fc27
14:97326910 VRK1 C>T	14	97326910	97326910	C	T	VRK1	c.906C>T	NM_003384.3	NP_003375.1:p.(Tyr302=)	NC_000014.8:g.97326910C>T	(Likely) benign	2 labs	ba61c5d6f0
7:103301976 RELN T>TA	7	103301976	103301985	T	TA	RELN	c.1290-3dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103301985dup	(Likely) benign	2 labs	ba62775572
19:50827226 KCNC3 C>T	19	50827226	50827226	C	T	KCNC3	c.984G>A	NM_004977.2	NP_004968.2:p.(Pro328=)	NC_000019.9:g.50827226C>T	(Likely) benign	2 labs	ba6d97d482
3:184072062 CLCN2 G>T	3	184072062	184072062	G	T	CLCN2	c.1548C>A	NM_004366.5	NP_004357.3:p.(Ser516=)	NC_000003.11:g.184072062G>T	(Likely) benign	2 labs	ba6e273f0c
16:68732169 CDH3 G>A	16	68732169	68732169	G	A	CDH3	c.2356G>A	NM_001793.5	NP_001784.2:p.(Gly786Ser)	NC_000016.9:g.68732169G>A	VUS	2 labs	ba6fea0ba5
12:88481632 CEP290 T>C	12	88481632	88481632	T	C	CEP290	c.4119A>G	NM_025114.4	NP_079390.3:p.(Lys1373=)	NC_000012.11:g.88481632T>C	(Likely) benign	4 labs	ba7d0ba5d2
10:21102907 NEBL A>G	10	21102907	21102907	A	G	NEBL	c.2307T>C	NM_006393.2	NP_006384.1:p.(Ala769=)	NC_000010.10:g.21102907A>G	(Likely) benign	2 labs	ba889b585e
9:108366785 FKTN G>A	9	108366785	108366785	G	A	FKTN	c.647+12G>A	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108366785G>A	(Likely) benign	2 labs	ba942aaa1f
9:75445381 TMC1 A>T	9	75445381	75445381	A	T	TMC1	c.2144A>T	NM_138691.2	NP_619636.2:p.(Tyr715Phe)	NC_000009.11:g.75445381A>T	VUS	2 labs	baa2eecf4f
16:5133717 ALG1 C>T	16	5133717	5133717	C	T	ALG1	c.1222C>T	NM_019109.4	NP_061982.3:p.(Leu408=)	NC_000016.9:g.5133717C>T	(Likely) benign	2 labs	bab450c2d3
12:108962636 ISCU C>T	12	108962636	108962636	C	T	ISCU	c.373C>T	NM_014301.4	NP_055116.1:p.(Leu125=)	NC_000012.11:g.108962636C>T	(Likely) benign	2 labs	baad6d6d16
12:49579022 TUBA1A C>T	12	49579022	49579022	C	T	TUBA1A	c.1127G>A	NM_001270399.2	NP_001257328.1:p.(Cys376Tyr)	NC_000012.11:g.49579022C>T	VUS	2 labs	bab5ab85ca
7:107323983 SLC26A4 G>A	7	107323983	107323983	G	A	SLC26A4	c.1001+1G>A	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107323983G>A	(Likely) pathogenic	2 labs	babfe76bc8
X:41333741 NYX G>A	X	41333741	41333741	G	A	NYX	c.1035G>A	NM_022567.2	NP_072089.1:p.(Glu345=)	NC_000023.10:g.41333741G>A	(Likely) benign	2 labs	bab6946094
4:103579041 MANBA GGAC>G	4	103579041	103579047	GGAC	G	MANBA	c.1499_1501del	NM_005908.4	NP_005899.3:p.(Arg500del)	NC_000004.11:g.103579045_103579047del	VUS	3 labs	bac375a6d1
10:21097594 NEBL T>C	10	21097594	21097594	T	C	NEBL	c.2612-6A>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21097594T>C	VUS	2 labs	bad037a35c
3:132394747 UBA5 G>A	3	132394747	132394747	G	A	UBA5	c.1111G>A	NM_024818.4	NP_079094.1:p.(Ala371Thr)	NC_000003.11:g.132394747G>A	(Likely) pathogenic	3 labs	bad20c2fe4
11:103070084 DYNC2H1 G>A	11	103070084	103070084	G	A	DYNC2H1	c.7967G>A	NM_001080463.2	NP_001073932.1:p.(Arg2656His)	NC_000011.9:g.103070084G>A	VUS	2 labs	badc68ab0a
2:170163827 LRP2 T>C	2	170163827	170163827	T	C	LRP2	c.391A>G	NM_004525.3	NP_004516.2:p.(Arg131Gly)	NC_000002.11:g.170163827T>C	(Likely) benign	2 labs	bae02dde0a
3:148925257 CP C>T	3	148925257	148925257	C	T	CP	c.929G>A	NM_000096.3	NP_000087.1:p.(Arg310His)	NC_000003.11:g.148925257C>T	VUS	2 labs	bae2e156e7
19:13441051 CACNA1A G>A	19	13441051	13441051	G	A	CACNA1A	c.1348+7C>T	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13441051G>A	(Likely) benign	3 labs	bae3bd0ab0
19:17397456 ANKLE1 GGTGT>G	19	17397456	17397500	GGTGT	G	ANKLE1	c.*136_*139del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397497_17397500del	(Likely) benign	2 labs	bae7fb9a8e
10:112572130 RBM20 C>T	10	112572130	112572130	C	T	RBM20	c.1975C>T	NM_001134363.3	NP_001127835.2:p.(His659Tyr)	NC_000010.10:g.112572130C>T	VUS	3 labs	badc112897
8:144996830 PLEC C>T	8	144996830	144996830	C	T	PLEC	c.7678G>A	NM_201380.4	NP_958782.1:p.(Ala2560Thr)	NC_000008.10:g.144996830C>T	(Likely) benign	3 labs	baef315648
7:21654825 DNAH11 A>G	7	21654825	21654825	A	G	DNAH11				NC_000007.13:g.21654825A>G	(Likely) benign	2 labs	baf1a60d43
17:7750177 KDM6B T>TACCACCACC	17	7750177	7750216	T	TACCACCACC	KDM6B	c.783_791dup	NM_001080424.2	NP_001073893.1:p.(Pro262_Pro264dup)	NC_000017.10:g.7750208_7750216dup	(Likely) benign	3 labs	baf327d27a
18:21136574 NPC1 T>C	18	21136574	21136574	T	C	NPC1	c.959A>G	NM_000271.5	NP_000262.2:p.(Glu320Gly)	NC_000018.9:g.21136574T>C	VUS	2 labs	bafb07b945
17:29325919 RNF135 G>A	17	29325919	29325919	G	A	RNF135	c.1009G>A	NM_032322.3	NP_115698.3:p.(Asp337Asn)	NC_000017.10:g.29325919G>A	(Likely) benign	2 labs	bafa8114e4
X:54472699 FGD1 C>T	X	54472699	54472699	C	T	FGD1	c.2729G>A	NM_004463.2	NP_004454.2:p.(Arg910Gln)	NC_000023.10:g.54472699C>T	(Likely) benign	2 labs	bb0557927c
2:179424333 TTN A>C	2	179424333	179424333	A	C	TTN	c.86526T>G	NM_001267550.2	NP_001254479.2:p.(Val28842=)	NC_000002.11:g.179424333A>C	(Likely) benign	2 labs	baf87b2f0b
7:147815334 CNTNAP2 T>C	7	147815334	147815334	T	C	CNTNAP2	c.2508T>C	NM_014141.5	NP_054860.1:p.(Phe836=)	NC_000007.13:g.147815334T>C	(Likely) benign	2 labs	bb107176ca
2:179463374 TTN A>G	2	179463374	179463374	A	G	TTN	c.56970T>C	NM_001267550.2	NP_001254479.2:p.(Pro18990=)	NC_000002.11:g.179463374A>G	(Likely) benign	3 labs	bb0a2d31ae
14:23873993 MYH6 C>T	14	23873993	23873993	C	T	MYH6	c.569G>A	NM_002471.4	NP_002462.2:p.(Arg190His)	NC_000014.8:g.23873993C>T	VUS	3 labs	bb1e53d036
13:111102790 COL4A2 C>G	13	111102790	111102790	C	G	COL4A2	c.1328C>G	NM_001846.3	NP_001837.2:p.(Pro443Arg)	NC_000013.10:g.111102790C>G	(Likely) benign	2 labs	bb1c2cb1e7
2:179458414 TTN G>T	2	179458414	179458414	G	T	TTN	c.58613C>A	NM_001267550.2	NP_001254479.2:p.(Thr19538Lys)	NC_000002.11:g.179458414G>T	VUS	2 labs	bb1a396746
11:66299445 BBS1 A>G	11	66299445	66299445	A	G	BBS1	c.1719A>G	NM_024649.5	NP_078925.3:p.(Gln573=)	NC_000011.9:g.66299445A>G	(Likely) benign	2 labs	bb1b9c3c10
8:144998444 PLEC C>T	8	144998444	144998444	C	T	PLEC	c.6064G>A	NM_201380.3	NP_958782.1:p.(Ala2022Thr)	NC_000008.10:g.144998444C>T	(Likely) benign	2 labs	bb227b602a
2:179407679 TTN A>G	2	179407679	179407679	A	G	TTN	c.96905-3T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179407679A>G	(Likely) benign	2 labs	bb237d298a
3:30664684 TGFBR2 T>C	3	30664684	30664684	T	C	TGFBR2	c.95-7T>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30664684T>C	(Likely) benign	2 labs	bb23f9230d
9:6606627 GLDC G>A	9	6606627	6606627	G	A	GLDC	c.678C>T	NM_000170.2	NP_000161.2:p.(His226=)	NC_000009.11:g.6606627G>A	(Likely) benign	2 labs	bb2426edd9
2:48028263 MSH6 G>A	2	48028263	48028263	G	A	MSH6	c.3141G>A	NM_000179.2	NP_000170.1:p.(Trp1047Ter)	NC_000002.11:g.48028263G>A	(Likely) pathogenic	3 labs	bb2c15f91f
11:88961072 TYR C>A	11	88961072	88961072	C	A	TYR	c.1118C>A	NM_000372.5	NP_000363.1:p.(Thr373Lys)	NC_000011.9:g.88961072C>A	(Likely) pathogenic	3 labs	bb24a9d51f
22:19711765 GP1BB C>T	22	19711765	19711765	C	T	GP1BB	c.399C>T	NM_000407.4	NP_000398.1:p.(Ala133=)	NC_000022.10:g.19711765C>T	(Likely) benign	2 labs	bb2da0fdbb
15:77328255 PSTPIP1 G>A	15	77328255	77328255	G	A	PSTPIP1	c.1071G>A	NM_001321136.1	NP_001308065.1:p.(Ala357=)	NC_000015.9:g.77328255G>A	(Likely) benign	2 labs	bb2e47c30d
X:153599377 FLNA C>G	X	153599377	153599377	C	G	FLNA	c.237G>C	NM_001110556.2	NP_001104026.1:p.(Ala79=)	NC_000023.10:g.153599377C>G	(Likely) benign	2 labs	bb38e9348b
X:130407875 IGSF1 G>C	X	130407875	130407875	G	C	IGSF1	c.3921C>G	NM_001170961.2	NP_001164432.1:p.(Thr1307=)	NC_000023.10:g.130407875G>C	(Likely) benign	2 labs	bb2d936d5a
2:54883090 SPTBN1 G>A	2	54883090	54883090	G	A	SPTBN1	c.6001G>A	NM_003128.2	NP_003119.2:p.(Glu2001Lys)	NC_000002.11:g.54883090G>A	VUS	2 labs	bb45099f84
6:135777065 AHI1 CT>C	6	135777065	135777066	CT	C	AHI1	c.1152-2del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135777066del	(Likely) pathogenic	2 labs	bb4c80e4f6
X:101382112 TCEAL2 GGAGAGCCAGACAGTGAAA>G	X	101382112	101382140	GGAGAGCCAGACAGTGAAA	G	TCEAL2	c.321_338del	NM_080390.4	NP_525129.1:p.(Asp107_Pro112del)	NC_000023.10:g.101382123_101382140del	VUS	2 labs	bb4df6b100
5:13701525 DNAH5 T>C	5	13701525	13701525	T	C	DNAH5	c.13359A>G	NM_001369.3	NP_001360.1:p.(Thr4453=)	NC_000005.9:g.13701525T>C	(Likely) benign	2 labs	bb57ab07cf
4:997206 IDUA C>G	4	997206	997206	C	G	IDUA	c.1598C>G	NM_000203.5	NP_000194.2:p.(Pro533Arg)	NC_000004.11:g.997206C>G	(Likely) pathogenic	2 labs	bb504f25f3
16:75675452 KARS1 G>A	16	75675452	75675452	G	A	KARS1	c.306+10C>T	NM_001130089.1	NP_001123561.1:p.?	NC_000016.9:g.75675452G>A	(Likely) benign	2 labs	bb5195004c
17:76130091 TMC8 C>T	17	76130091	76130091	C	T	TMC8	c.816+10C>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76130091C>T	(Likely) benign	2 labs	bb64d7ae30
22:19471511 CDC45 C>T	22	19471511	19471511	C	T	CDC45	c.469C>T	NM_001178010.2	NP_001171481.1:p.(Arg157Cys)	NC_000022.10:g.19471511C>T	VUS	2 labs	bb75b38cb1
X:153763391 G6PD C>G	X	153763391	153763391	C	G	G6PD	c.567G>C	NM_000402.4	NP_000393.4:p.(Met189Ile)	NC_000023.10:g.153763391C>G	(Likely) benign	2 labs	bb788e39b0
16:87677887 JPH3 G>A	16	87677887	87677887	G	A	JPH3	c.406G>A	NM_020655.3	NP_065706.2:p.(Gly136Ser)	NC_000016.9:g.87677887G>A	(Likely) benign	2 labs	bb865bb5aa
1:7798213 CAMTA1 G>A	1	7798213	7798213	G	A	CAMTA1	c.3853G>A	NM_015215.3	NP_056030.1:p.(Glu1285Lys)	NC_000001.10:g.7798213G>A	VUS	2 labs	bb90c7968a
12:58131544 AGAP2 G>T	12	58131544	58131544	G	T	AGAP2	c.486C>A	NM_001122772.2	NP_001116244.1:p.(Gly162=)	NC_000012.11:g.58131544G>T	VUS	2 labs	bb9bed26e2
X:132887754 GPC3 A>T	X	132887754	132887754	A	T	GPC3	c.787T>A	NM_004484.4	NP_004475.1:p.(Ser263Thr)	NC_000023.10:g.132887754A>T	VUS	2 labs	bb9d4c759b
14:105418231 AHNAK2 A>G	14	105418231	105418231	A	G	AHNAK2	c.3557T>C	NM_138420.3	NP_612429.2:p.(Val1186Ala)	NC_000014.8:g.105418231A>G	(Likely) benign	2 labs	bba4aa2e8e
7:128852021 SMO C>G	7	128852021	128852021	C	G	SMO	c.2093C>G	NM_005631.5	NP_005622.1:p.(Pro698Arg)	NC_000007.13:g.128852021C>G	VUS	2 labs	bbb21c1261
7:147926734 CNTNAP2 A>G	7	147926734	147926734	A	G	CNTNAP2	c.3248-4A>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147926734A>G	(Likely) benign	2 labs	bba9fde95b
X:99919896 SRPX2 C>A	X	99919896	99919896	C	A	SRPX2	c.481C>A	NM_014467.2	NP_055282.1:p.(Arg161=)	NC_000023.10:g.99919896C>A	(Likely) benign	2 labs	bbad69693a
12:32974373 PKP2 A>G	12	32974373	32974373	A	G	PKP2	c.2062T>C	NM_004572.4	NP_004563.2:p.(Ser688Pro)	NC_000012.11:g.32974373A>G	VUS	2 labs	bba8549efa
X:153296153 MECP2 G>A	X	153296153	153296153	G	A	MECP2	c.1126C>T	NM_004992.3	NP_004983.1:p.(Pro376Ser)	NC_000023.10:g.153296153G>A	(Likely) benign	3 labs	bbbd300b96
10:103827182 HPS6 C>T	10	103827182	103827182	C	T	HPS6	c.1951C>T	NM_024747.6	NP_079023.2:p.(Arg651Trp)	NC_000010.10:g.103827182C>T	VUS	2 labs	bbc3ad6aec
1:11102993 MASP2 G>C	1	11102993	11102993	G	C	MASP2	c.828C>G	NM_006610.3	NP_006601.2:p.(Ile276Met)	NC_000001.10:g.11102993G>C	(Likely) benign	2 labs	bbc70ab2d2
2:113819727 IL36RN C>T	2	113819727	113819727	C	T	IL36RN	c.142C>T	NM_012275.2	NP_036407.1:p.(Arg48Trp)	NC_000002.11:g.113819727C>T	(Likely) pathogenic	2 labs	bbcb0db302
X:133547589 PHF6 C>T	X	133547589	133547589	C	T	PHF6	c.487C>T	NM_032458.3	NP_115834.1:p.(Arg163Cys)	NC_000023.10:g.133547589C>T	VUS	2 labs	bbccbfb90f
1:220356184 RAB3GAP2 T>C	1	220356184	220356184	T	C	RAB3GAP2	c.2088A>G	NM_012414.3	NP_036546.2:p.(Thr696=)	NC_000001.10:g.220356184T>C	(Likely) benign	2 labs	bbd08675d8
21:47635095 LSS G>A	21	47635095	47635095	G	A	LSS	c.1010C>T	NM_002340.6	NP_002331.3:p.(Pro337Leu)	NC_000021.8:g.47635095G>A	VUS	2 labs	bbe758738a
16:15841934 MYH11 T>C	16	15841934	15841934	T	C	MYH11	c.2171A>G	NM_001040113.1	NP_001035202.1:p.(Asn724Ser)	NC_000016.9:g.15841934T>C	VUS	3 labs	bbee26dcd5
2:109356939 RANBP2 T>C	2	109356939	109356939	T	C	RANBP2	c.783-6T>C	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109356939T>C	(Likely) benign	3 labs	bc165383fc
14:23859390 MYH6 G>GC	14	23859390	23859392	G	GC	MYH6	c.3607dup	NM_002471.4	NP_002462.2:p.(Ala1203GlyfsTer30)	NC_000014.8:g.23859392dup	VUS	4 labs	bc164f2a60
17:29562700 NF1 GT>G	17	29562700	29562704	GT	G	NF1	c.3784del	NM_001042492.3	NP_001035957.1:p.(Ser1262LeufsTer4)	NC_000017.10:g.29562704del	(Likely) pathogenic	2 labs	bc186d1650
2:166911255 SCN1A A>G	2	166911255	166911255	A	G	SCN1A	c.495T>C	NM_001165963.4	NP_001159435.1:p.(Tyr165=)	NC_000002.11:g.166911255A>G	(Likely) benign	2 labs	bc2ea8c2bf
19:55451083 NLRP7 A>C	19	55451083	55451083	A	C	NLRP7	c.1104T>G	NM_001127255.1	NP_001120727.1:p.(Ile368Met)	NC_000019.9:g.55451083A>C	VUS	2 labs	bc38e20aea
15:89866646 POLG G>A	15	89866646	89866646	G	A	POLG	c.2254C>T	NM_002693.3	NP_002684.1:p.(Leu752=)	NC_000015.9:g.89866646G>A	(Likely) benign	3 labs	bc3f3a8c2f
5:147498002 SPINK5 C>T	5	147498002	147498002	C	T	SPINK5	c.2115C>T	NM_001127698.1	NP_001121170.1:p.(Asp705=)	NC_000005.9:g.147498002C>T	(Likely) benign	2 labs	bc4231d301
7:92763782 SAMD9L T>C	7	92763782	92763782	T	C	SAMD9L	c.1503A>G	NM_152703.4	NP_689916.2:p.(Arg501=)	NC_000007.13:g.92763782T>C	(Likely) benign	3 labs	bc4633e353
X:38240679 OTC C>G	X	38240679	38240679	C	G	OTC	c.383C>G	NM_000531.6	NP_000522.3:p.(Ala128Gly)	NC_000023.10:g.38240679C>G	VUS	3 labs	bc4eeaf964
X:17750294 NHS T>A	X	17750294	17750294	T	A	NHS	c.4666T>A	NM_001291867.1	NP_001278796.1:p.(Ser1556Thr)	NC_000023.10:g.17750294T>A	(Likely) benign	2 labs	bc50a5944f
X:14877400 FANCB A>T	X	14877400	14877400	A	T	FANCB	c.1008T>A	NM_001018113.3	NP_001018123.1:p.(Ser336Arg)	NC_000023.10:g.14877400A>T	VUS	2 labs	bc59894a44
4:88989111 PKD2 G>A	4	88989111	88989111	G	A	PKD2	c.2420G>A	NM_000297.3	NP_000288.1:p.(Arg807Gln)	NC_000004.11:g.88989111G>A	(Likely) benign	3 labs	bc52e49a24
11:640003 DRD4 CGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA>C	11	640003	640151	CGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCCCCGCGCCCGGCCTTCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCA	C	DRD4	c.807_902del	NM_000797.4	NP_000788.2:p.(Arg271_Pro302del)	NC_000011.9:g.640056_640151del	(Likely) benign	2 labs	bc550b9098
X:30578250 TASL G>T	X	30578250	30578250	G	T	TASL	c.223C>A	NM_025159.2	NP_079435.1:p.(His75Asn)	NC_000023.10:g.30578250G>T	(Likely) benign	2 labs	bc569719d6
8:6478960 MCPH1 C>G	8	6478960	6478960	C	G	MCPH1	c.2215-15C>G	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6478960C>G	(Likely) benign	2 labs	bc57a7aa07
4:3494833 DOK7 A>AGCCT	4	3494833	3494840	A	AGCCT	DOK7	c.1124_1127dup	NM_173660.4	NP_775931.3:p.(Ala378SerfsTer30)	NC_000004.11:g.3494837_3494840dup	(Likely) pathogenic	2 labs	bc6607f129
19:6686274 C3 C>T	19	6686274	6686274	C	T	C3	c.3671G>A	NM_000064.2	NP_000055.2:p.(Gly1224Asp)	NC_000019.9:g.6686274C>T	(Likely) benign	3 labs	bc6fbaeb72
X:591578 SHOX C>T	X	591578	591578	C	T	SHOX	c.-55C>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591578C>T	(Likely) benign	3 labs	bc78b2bac8
2:129026320 HS6ST1 G>A	2	129026320	129026320	G	A	HS6ST1	c.652C>T	NM_004807.2	NP_004798.3:p.(Pro218Ser)	NC_000002.11:g.129026320G>A	VUS	2 labs	bc7b5c5613
12:113348850 OAS1 G>A	12	113348850	113348850	G	A	OAS1	c.470-6G>A	NM_016816.3	NP_058132.2:p.?	NC_000012.11:g.113348850G>A	(Likely) benign	2 labs	bc83218d05
6:152665374 SYNE1 C>A	6	152665374	152665374	C	A	SYNE1	c.12079-12G>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152665374C>A	(Likely) benign	2 labs	bc91101860
2:179600475 TTN C>T	2	179600475	179600475	C	T	TTN	c.14698G>A	NM_001267550.2	NP_001254479.2:p.(Ala4900Thr)	NC_000002.11:g.179600475C>T	(Likely) benign	4 labs	bc994832bd
14:23857424 MYH6 G>A	14	23857424	23857424	G	A	MYH6	c.4299C>T	NM_002471.3	NP_002462.2:p.(Asp1433=)	NC_000014.8:g.23857424G>A	(Likely) benign	2 labs	bcaaba9f08
9:22006147 CDKN2B C>T	9	22006147	22006147	C	T	CDKN2B	c.256G>A	NM_004936.4	NP_004927.2:p.(Asp86Asn)	NC_000009.11:g.22006147C>T	VUS	2 labs	bcaca8d9a3
22:29130456 CHEK2 G>A	22	29130456	29130456	G	A	CHEK2	c.254C>T	NM_007194.4	NP_009125.1:p.(Pro85Leu)	NC_000022.10:g.29130456G>A	(Likely) benign	6 labs	bcb497d4b9
20:35575179 SAMHD1 A>G	20	35575179	35575179	A	G	SAMHD1	c.237T>C	NM_001363729.1	NP_001350658.1:p.(Pro79=)	NC_000020.10:g.35575179A>G	(Likely) benign	2 labs	bcb7a11b83
19:46271371 SIX5 C>T	19	46271371	46271371	C	T	SIX5	c.732G>A	NM_175875.4	NP_787071.2:p.(Gln244=)	NC_000019.9:g.46271371C>T	(Likely) benign	2 labs	bcbffc3de4
17:56294020 MKS1 G>A	17	56294020	56294020	G	A	MKS1	c.261+7C>T	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56294020G>A	(Likely) benign	2 labs	bcc420b258
11:47364296 MYBPC3 C>G	11	47364296	47364296	C	G	MYBPC3	c.1458-1G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364296C>G	(Likely) pathogenic	4 labs	bccf72e266
16:1614090 IFT140 G>A	16	1614090	1614090	G	A	IFT140	c.1975C>T	NM_014714.3	NP_055529.2:p.(Arg659Trp)	NC_000016.9:g.1614090G>A	VUS	2 labs	bcdab87e41
20:43257744 ADA C>T	20	43257744	43257744	C	T	ADA	c.162G>A	NM_000022.2	NP_000013.2:p.(Lys54=)	NC_000020.10:g.43257744C>T	(Likely) benign	2 labs	bcdb238141
22:32193632 DEPDC5 G>A	22	32193632	32193632	G	A	DEPDC5	c.814G>A	NM_001242896.2	NP_001229825.1:p.(Val272Ile)	NC_000022.10:g.32193632G>A	(Likely) benign	2 labs	bcdbc90edd
3:4725115 ITPR1 C>T	3	4725115	4725115	C	T	ITPR1	c.3162C>T	NM_001168272.2	NP_001161744.1:p.(Thr1054=)	NC_000003.11:g.4725115C>T	(Likely) benign	3 labs	bcdd1f02ea
14:59006783 KIAA0586 A>C	14	59006783	59006783	A	C	KIAA0586	c.4430-6A>C	NM_001329943.2	NP_001316872.1:p.?	NC_000014.8:g.59006783A>C	(Likely) benign	2 labs	bce678201e
17:4927054 KIF1C G>A	17	4927054	4927054	G	A	KIF1C	c.2920G>A	NM_006612.6	NP_006603.2:p.(Asp974Asn)	NC_000017.10:g.4927054G>A	VUS	2 labs	bce18b1c6d
14:94847415 SERPINA1 A>G	14	94847415	94847415	A	G	SERPINA1	c.710T>C	NM_001127701.2	NP_001121173.1:p.(Val237Ala)	NC_000014.8:g.94847415A>G	(Likely) benign	4 labs	bcf649e061
2:231037619 SP110 G>A	2	231037619	231037619	G	A	SP110	c.1647C>T	NM_080424.2	NP_536349.2:p.(Cys549=)	NC_000002.11:g.231037619G>A	(Likely) benign	2 labs	bcfe101b0f
20:62326304 RTEL1 C>T	20	62326304	62326304	C	T	RTEL1	c.3320C>T	NM_001283009.1	NP_001269938.1:p.(Pro1107Leu)	NC_000020.10:g.62326304C>T	VUS	2 labs	bcfeda31f8
2:189855743 COL3A1 G>A	2	189855743	189855743	G	A	COL3A1	c.812G>A	NM_000090.4	NP_000081.2:p.(Arg271Gln)	NC_000002.11:g.189855743G>A	(Likely) benign	4 labs	bcfe43eccd
2:179395913 TTN GC>G	2	179395913	179395916	GC	G	TTN	c.105428del	NM_001267550.2	NP_001254479.2:p.(Gly35143AlafsTer18)	NC_000002.11:g.179395916del	(Likely) pathogenic	4 labs	bd016d8dcb
4:10099404 WDR1 G>C	4	10099404	10099404	G	C	WDR1	c.489C>G	NM_017491.4	NP_059830.1:p.(Ala163=)	NC_000004.11:g.10099404G>C	(Likely) benign	2 labs	bd01d08ef5
10:73337757 CDH23 A>G	10	73337757	73337757	A	G	CDH23	c.832+8A>G	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73337757A>G	(Likely) benign	2 labs	bd0475e5d1
18:28612233 DSC3 G>T	18	28612233	28612233	G	T	DSC3	c.79C>A	NM_024423.4	NP_077741.2:p.(Arg27Ser)	NC_000018.9:g.28612233G>T	(Likely) benign	2 labs	bd095ee6e4
X:30718526 GK A>T	X	30718526	30718526	A	T	GK	c.748-5A>T	NM_001205019.1	NP_001191948.1:p.?	NC_000023.10:g.30718526A>T	(Likely) benign	2 labs	bd0ad1cf09
11:118342559 KMT2A C>A	11	118342559	118342559	C	A	KMT2A	c.685C>A	NM_001197104.1	NP_001184033.1:p.(Pro229Thr)	NC_000011.9:g.118342559C>A	(Likely) benign	2 labs	bd1236a3d6
1:40557824 PPT1 G>A	1	40557824	40557824	G	A	PPT1	c.255C>T	NM_000310.4	NP_000301.1:p.(Phe85=)	NC_000001.10:g.40557824G>A	(Likely) benign	2 labs	bd1558904e
13:32912240 BRCA2 G>GA	13	32912240	32912243	G	GA	BRCA2	c.3751dup	NM_000059.3	NP_000050.2:p.(Thr1251AsnfsTer14)	NC_000013.10:g.32912243dup	(Likely) pathogenic	2 labs	bd161cd443
11:16068232 SOX6 A>C	11	16068232	16068232	A	C	SOX6	c.1451T>G	NM_001367873.1	NP_001354802.1:p.(Leu484Arg)	NC_000011.9:g.16068232A>C	VUS	2 labs	bd1c966110
15:31198060 FAN1 G>A	15	31198060	31198060	G	A	FAN1	c.1194G>A	NM_014967.4	NP_055782.3:p.(Glu398=)	NC_000015.9:g.31198060G>A	(Likely) benign	2 labs	bd1efa42c7
6:31903779 C2 A>G	6	31903779	31903779	A	G	C2	c.842A>G	NM_001282458.1	NP_001269387.1:p.(Asn281Ser)	NC_000006.11:g.31903779A>G	(Likely) benign	2 labs	bd22c2cafd
2:73799484 ALMS1 C>T	2	73799484	73799484	C	T	ALMS1	c.10483C>T	NM_015120.4	NP_055935.4:p.(Gln3495Ter)	NC_000002.11:g.73799484C>T	(Likely) pathogenic	2 labs	bd24e49467
14:23874541 MYH6 C>T	14	23874541	23874541	C	T	MYH6	c.393G>A	NM_002471.4	NP_002462.2:p.(Leu131=)	NC_000014.8:g.23874541C>T	(Likely) benign	3 labs	bd1e6a1855
14:102494049 DYNC1H1 G>A	14	102494049	102494049	G	A	DYNC1H1	c.9142G>A	NM_001376.4	NP_001367.2:p.(Glu3048Lys)	NC_000014.8:g.102494049G>A	(Likely) pathogenic	2 labs	bd2953eba5
12:6153463 VWF CG>C	12	6153463	6153469	CG	C	VWF	c.2435del	NM_000552.5	NP_000543.3:p.(Pro812ArgfsTer31)	NC_000012.11:g.6153469del	(Likely) pathogenic	3 labs	bd29701dc3
5:131722826 SLC22A5 A>G	5	131722826	131722826	A	G	SLC22A5	c.1006A>G	NM_001308122.1	NP_001295051.1:p.(Ile336Val)	NC_000005.9:g.131722826A>G	(Likely) benign	2 labs	bd2c7c8df2
8:100396559 VPS13B A>T	8	100396559	100396559	A	T	VPS13B	c.2934+14A>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100396559A>T	(Likely) benign	2 labs	bd2f28ae6d
9:139399752 NOTCH1 G>A	9	139399752	139399752	G	A	NOTCH1	c.4586+10C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139399752G>A	(Likely) benign	4 labs	bd2ee8f582
X:48544175 WAS G>A	X	48544175	48544175	G	A	WAS	c.413G>A	NM_000377.3	NP_000368.1:p.(Arg138Gln)	NC_000023.10:g.48544175G>A	(Likely) benign	3 labs	bd3c06fd48
17:61570836 ACE G>C	17	61570836	61570836	G	C	ACE	c.2952G>C	NM_000789.3	NP_000780.1:p.(Val984=)	NC_000017.10:g.61570836G>C	(Likely) benign	2 labs	bd3c29c63a
16:1621495 IFT140 C>T	16	1621495	1621495	C	T	IFT140	c.1565G>A	NM_014714.3	NP_055529.2:p.(Gly522Glu)	NC_000016.9:g.1621495C>T	(Likely) pathogenic	2 labs	bd40456d3f
2:166850777 SCN1A A>G	2	166850777	166850777	A	G	SCN1A	c.4731T>C	NM_001165963.2	NP_001159435.1:p.(Asn1577=)	NC_000002.11:g.166850777A>G	(Likely) benign	4 labs	bd40e925e8
7:153750071 DPP6 C>CGCG	7	153750071	153750092	C	CGCG	DPP6	c.185_187dup	NM_130797.4	NP_570629.2:p.(Gly62dup)	NC_000007.13:g.153750090_153750092dup	(Likely) benign	3 labs	bd4133d744
10:89504780 PAPSS2 C>T	10	89504780	89504780	C	T	PAPSS2	c.1513C>T	NM_001015880.1	NP_001015880.1:p.(Arg505Trp)	NC_000010.10:g.89504780C>T	VUS	2 labs	bd429e2b71
16:88788291 PIEZO1 G>A	16	88788291	88788291	G	A	PIEZO1	c.5139C>T	NM_001142864.4	NP_001136336.2:p.(Leu1713=)	NC_000016.9:g.88788291G>A	(Likely) benign	3 labs	bd4eef1b85
1:11855316 MTHFR G>A	1	11855316	11855316	G	A	MTHFR	c.870C>T	NM_005957.4	NP_005948.3:p.(Asn290=)	NC_000001.10:g.11855316G>A	(Likely) benign	2 labs	bd5229051e
13:26156087 ATP8A2 T>C	13	26156087	26156087	T	C	ATP8A2	c.2138T>C	NM_016529.5	NP_057613.4:p.(Ile713Thr)	NC_000013.10:g.26156087T>C	VUS	2 labs	bd56eb8bd5
2:179401845 TTN A>G	2	179401845	179401845	A	G	TTN	c.99991T>C	NM_001267550.2	NP_001254479.2:p.(Cys33331Arg)	NC_000002.11:g.179401845A>G	(Likely) benign	4 labs	bd5f484b04
6:129513917 LAMA2 C>T	6	129513917	129513917	C	T	LAMA2	c.1701C>T	NM_000426.3	NP_000417.2:p.(Ile567=)	NC_000006.11:g.129513917C>T	(Likely) benign	2 labs	bd5d71fd48
X:153583217 FLNA C>T	X	153583217	153583217	C	T	FLNA	c.5193G>A	NM_001110556.2	NP_001104026.1:p.(Val1731=)	NC_000023.10:g.153583217C>T	(Likely) benign	2 labs	bd5f1b5b5c
1:209799066 LAMB3 G>A	1	209799066	209799066	G	A	LAMB3	c.1903C>T	NM_000228.3	NP_000219.2:p.(Arg635Ter)	NC_000001.10:g.209799066G>A	(Likely) pathogenic	4 labs	bd6822908b
X:53627159 HUWE1 T>C	X	53627159	53627159	T	C	HUWE1	c.3082A>G	NM_031407.6	NP_113584.3:p.(Thr1028Ala)	NC_000023.10:g.53627159T>C	(Likely) benign	3 labs	bd68142284
X:53435989 SMC1A T>G	X	53435989	53435989	T	G	SMC1A	c.1545+4A>C	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53435989T>G	(Likely) benign	3 labs	bd6d6fed51
X:38145060 RPGR TTCC>T	X	38145060	38145071	TTCC	T	RPGR	c.3189_3191del	NM_001034853.2	NP_001030025.1:p.(Glu1066del)	NC_000023.10:g.38145069_38145071del	(Likely) benign	2 labs	bd6abe95d2
18:3452291 TGIF1 G>A	18	3452291	3452291	G	A	TGIF1	c.314G>A	NM_170695.3	NP_733796.2:p.(Arg105His)	NC_000018.9:g.3452291G>A	(Likely) benign	2 labs	bd7964018b
9:126132796 CRB2 G>A	9	126132796	126132796	G	A	CRB2	c.1464G>A	NM_173689.6	NP_775960.4:p.(Leu488=)	NC_000009.11:g.126132796G>A	(Likely) benign	2 labs	bd7d16db7e
3:142232474 ATR G>A	3	142232474	142232474	G	A	ATR	c.4510C>T	NM_001184.3	NP_001175.2:p.(His1504Tyr)	NC_000003.11:g.142232474G>A	VUS	2 labs	bd7dc6adbf
19:18180447 IL12RB1 C>T	19	18180447	18180447	C	T	IL12RB1	c.1218G>A	NM_001290024.1	NP_001276953.1:p.(Thr406=)	NC_000019.9:g.18180447C>T	(Likely) benign	2 labs	bd8058812e
7:73474308 ELN G>A	7	73474308	73474308	G	A	ELN	c.1507G>A	NM_000501.4	NP_000492.2:p.(Val503Met)	NC_000007.13:g.73474308G>A	(Likely) benign	5 labs	bd8c5c081e
8:145737701 RECQL4 C>T	8	145737701	145737701	C	T	RECQL4	c.3062G>A	NM_004260.4	NP_004251.4:p.(Arg1021Gln)	NC_000008.10:g.145737701C>T	(Likely) benign	5 labs	bd8d88a69c
5:1443151 SLC6A3 G>A	5	1443151	1443151	G	A	SLC6A3	c.162C>T	NM_001044.5	NP_001035.1:p.(Pro54=)	NC_000005.9:g.1443151G>A	(Likely) benign	3 labs	bd92a2445f
6:152697578 SYNE1 C>T	6	152697578	152697578	C	T	SYNE1	c.9283G>A	NM_033071.4	NP_149062.2:p.(Ala3095Thr)	NC_000006.11:g.152697578C>T	VUS	2 labs	bd9afcfc2c
2:47630550 MSH2 C>G	2	47630550	47630550	C	G	MSH2	c.211+9C>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47630550C>G	(Likely) benign	4 labs	bd9b6f7fd7
9:79910595 VPS13A C>A	9	79910595	79910595	C	A	VPS13A	c.3645C>A	NM_033305.3	NP_150648.2:p.(Ala1215=)	NC_000009.11:g.79910595C>A	(Likely) benign	2 labs	bd9b199f53
13:32930748 BRCA2 T>G	13	32930748	32930748	T	G	BRCA2	c.7617+2T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930748T>G	(Likely) pathogenic	5 labs	bda5c99014
11:62292464 AHNAK T>C	11	62292464	62292464	T	C	AHNAK	c.9425A>G	NM_001620.2	NP_001611.1:p.(Gln3142Arg)	NC_000011.9:g.62292464T>C	(Likely) benign	2 labs	bda3c85683
1:11854671 MTHFR C>A	1	11854671	11854671	C	A	MTHFR	c.1290-76G>T	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11854671C>A	(Likely) benign	2 labs	bdab1427ab
1:225600351 LBR TA>T	1	225600351	225600367	TA	T	LBR	c.893-5del	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225600367del	(Likely) benign	2 labs	bdabb29899
18:12358857 AFG3L2 G>A	18	12358857	12358857	G	A	AFG3L2	c.838C>T	NM_006796.2	NP_006787.2:p.(Arg280Trp)	NC_000018.9:g.12358857G>A	VUS	2 labs	bdad867d41
7:33380598 BBS9 G>T	7	33380598	33380598	G	T	BBS9	c.1275+13G>T	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33380598G>T	(Likely) benign	2 labs	bdae0a4305
18:32428317 DTNA G>A	18	32428317	32428317	G	A	DTNA	c.1143G>A	NM_001198939.2	NP_001185868.1:p.(Ala381=)	NC_000018.9:g.32428317G>A	(Likely) benign	2 labs	bdb90428f6
3:63981225 ATXN7 G>A	3	63981225	63981225	G	A	ATXN7	c.1727G>A	NM_000333.3	NP_000324.1:p.(Arg576His)	NC_000003.11:g.63981225G>A	(Likely) benign	2 labs	bdb5f7dcde
1:43880870 SZT2 G>A	1	43880870	43880870	G	A	SZT2	c.616G>A	NM_001365999.1	NP_001352928.1:p.(Asp206Asn)	NC_000001.10:g.43880870G>A	VUS	2 labs	bdb6293cac
21:47574206 FTCD C>G	21	47574206	47574206	C	G	FTCD	c.95G>C	NM_006657.2	NP_006648.1:p.(Gly32Ala)	NC_000021.8:g.47574206C>G	VUS	2 labs	bdb7d78d8d
3:58110104 FLNB C>T	3	58110104	58110104	C	T	FLNB	c.3770C>T	NM_001164317.1	NP_001157789.1:p.(Pro1257Leu)	NC_000003.11:g.58110104C>T	VUS	2 labs	bdbe923459
1:115576803 TSHB CT>C	1	115576803	115576804	CT	C	TSHB	c.373del	NM_000549.5	NP_000540.2:p.(Cys125ValfsTer10)	NC_000001.10:g.115576804del	(Likely) pathogenic	2 labs	bdbef6fbe8
11:2187234 TH T>A	11	2187234	2187234	T	A	TH	c.1195A>T	NM_199292.2	NP_954986.2:p.(Thr399Ser)	NC_000011.9:g.2187234T>A	VUS	2 labs	bdbfb70de8
1:216495287 USH2A C>T	1	216495287	216495287	C	T	USH2A	c.1582G>A	NM_206933.2	NP_996816.2:p.(Asp528Asn)	NC_000001.10:g.216495287C>T	VUS	2 labs	bdc1ae522d
2:179410859 TTN T>C	2	179410859	179410859	T	C	TTN	c.95120-16A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179410859T>C	(Likely) benign	2 labs	bdc502efa1
2:179602878 TTN C>T	2	179602878	179602878	C	T	TTN	c.14302G>A	NM_001267550.1	NP_001254479.1:p.(Gly4768Ser)	NC_000002.11:g.179602878C>T	VUS	2 labs	bdd6f5c4a6
5:131915588 RAD50 C>T	5	131915588	131915588	C	T	RAD50	c.586C>T	NM_005732.3	NP_005723.2:p.(Arg196Cys)	NC_000005.9:g.131915588C>T	VUS	2 labs	bdd98da4a5
14:23871938 MYH6 T>TGG	14	23871938	23871940	T	TGG	MYH6	c.968_969dup	NM_002471.3	NP_002462.2:p.(Ile324ProfsTer31)	NC_000014.8:g.23871939_23871940dup	VUS	2 labs	bddbb7c4a8
17:56290334 MKS1 T>C	17	56290334	56290334	T	C	MKS1	c.858+9A>G	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56290334T>C	(Likely) benign	3 labs	bddc11f84e
16:2153714 PKD1 C>T	16	2153714	2153714	C	T	PKD1	c.8344G>A	NM_001009944.2	NP_001009944.2:p.(Val2782Met)	NC_000016.9:g.2153714C>T	(Likely) benign	3 labs	bddeac3961
11:67767160 UNC93B1 G>A	11	67767160	67767160	G	A	UNC93B1	c.393-10C>T	NM_030930.2	NP_112192.2:p.?	NC_000011.9:g.67767160G>A	(Likely) benign	2 labs	bde6632a9d
17:4925475 KIF1C C>T	17	4925475	4925475	C	T	KIF1C	c.2099C>T	NM_006612.5	NP_006603.2:p.(Pro700Leu)	NC_000017.10:g.4925475C>T	(Likely) benign	2 labs	bde7d88cb1
16:3778392 CREBBP G>A	16	3778392	3778392	G	A	CREBBP	c.6656C>T	NM_004380.2	NP_004371.2:p.(Ala2219Val)	NC_000016.9:g.3778392G>A	(Likely) benign	2 labs	bdec239eb5
16:2141171 PKD1 C>A	16	2141171	2141171	C	A	PKD1	c.11717G>T	NM_001009944.2	NP_001009944.2:p.(Cys3906Phe)	NC_000016.9:g.2141171C>A	(Likely) benign	3 labs	bdf03a6873
3:77693976 ROBO2 C>T	3	77693976	77693976	C	T	ROBO2	c.4251C>T	NM_001290040.1	NP_001276969.1:p.(Gly1417=)	NC_000003.11:g.77693976C>T	(Likely) benign	2 labs	bdf6d0e807
8:87641146 CNGB3 C>T	8	87641146	87641146	C	T	CNGB3	c.1480+1G>A	NM_019098.4	NP_061971.3:p.?	NC_000008.10:g.87641146C>T	(Likely) pathogenic	2 labs	bdfd13dfef
10:73453966 CDH23 C>T	10	73453966	73453966	C	T	CDH23	c.2239C>T	NM_022124.5	NP_071407.4:p.(Arg747Cys)	NC_000010.10:g.73453966C>T	VUS	2 labs	bdfe64a0ad
20:10386172 MKKS G>C	20	10386172	10386172	G	C	MKKS	c.1436C>G	NM_018848.3	NP_061336.1:p.(Ser479Ter)	NC_000020.10:g.10386172G>C	(Likely) pathogenic	2 labs	bdff60b691
7:117251691 CFTR C>T	7	117251691	117251691	C	T	CFTR	c.3196C>T	NM_000492.4	NP_000483.3:p.(Arg1066Cys)	NC_000007.13:g.117251691C>T	(Likely) pathogenic	3 labs	bdff710eb9
5:149495395 PDGFRB T>C	5	149495395	149495395	T	C	PDGFRB	c.3252A>G	NM_002609.4	NP_002600.1:p.(Pro1084=)	NC_000005.9:g.149495395T>C	(Likely) benign	4 labs	be0188c330
17:19575096 ALDH3A2 C>T	17	19575096	19575096	C	T	ALDH3A2	c.1270C>T	NM_001031806.2	NP_001026976.1:p.(Pro424Ser)	NC_000017.10:g.19575096C>T	(Likely) benign	2 labs	be07812839
15:90190947 KIF7 T>C	15	90190947	90190947	T	C	KIF7	c.1444-4A>G	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90190947T>C	(Likely) benign	3 labs	be039fa879
3:195794391 TFRC A>G	3	195794391	195794391	A	G	TFRC	c.1038T>C	NM_003234.3	NP_003225.2:p.(Phe346=)	NC_000003.11:g.195794391A>G	(Likely) benign	2 labs	be0a5f39b4
21:47819594 PCNT A>T	21	47819594	47819594	A	T	PCNT	c.4675A>T	NM_006031.5	NP_006022.3:p.(Met1559Leu)	NC_000021.8:g.47819594A>T	(Likely) benign	2 labs	be0d16cc63
7:65426054 GUSB C>CA	7	65426054	65426068	C	CA	GUSB	c.1790-5dup	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426068dup	(Likely) benign	3 labs	be1698656c
11:64497613 RASGRP2 G>C	11	64497613	64497613	G	C	RASGRP2	c.1466C>G	NM_153819.1	NP_722541.1:p.(Ser489Cys)	NC_000011.9:g.64497613G>C	(Likely) benign	3 labs	be100a6730
2:44176798 LRPPRC T>A	2	44176798	44176798	T	A	LRPPRC	c.1678A>T	NM_133259.4	NP_573566.2:p.(Ile560Leu)	NC_000002.11:g.44176798T>A	(Likely) benign	2 labs	be176780bc
X:110654012 DCX G>A	X	110654012	110654012	G	A	DCX	c.191C>T	NM_000555.3	NP_000546.2:p.(Pro64Leu)	NC_000023.10:g.110654012G>A	VUS	2 labs	be156614c0
13:26144991 ATP8A2 C>T	13	26144991	26144991	C	T	ATP8A2	c.1560C>T	NM_016529.6	NP_057613.4:p.(Ile520=)	NC_000013.10:g.26144991C>T	(Likely) benign	2 labs	be183f4873
X:63411365 AMER1 C>T	X	63411365	63411365	C	T	AMER1	c.1802G>A	NM_152424.4	NP_689637.3:p.(Arg601Gln)	NC_000023.10:g.63411365C>T	(Likely) benign	3 labs	be187fe79a
11:61730036 BEST1 G>A	11	61730036	61730036	G	A	BEST1	c.1230G>A	NM_001139443.2	NP_001132915.1:p.(Thr410=)	NC_000011.9:g.61730036G>A	(Likely) benign	3 labs	be1cc13e66
3:129290640 PLXND1 G>A	3	129290640	129290640	G	A	PLXND1	c.3125C>T	NM_015103.2	NP_055918.2:p.(Pro1042Leu)	NC_000003.11:g.129290640G>A	(Likely) benign	2 labs	be2b442cf5
7:147926793 CNTNAP2 C>T	7	147926793	147926793	C	T	CNTNAP2	c.3303C>T	NM_014141.5	NP_054860.1:p.(Asp1101=)	NC_000007.13:g.147926793C>T	(Likely) benign	2 labs	be2e5f2dda
11:95825541 MAML2 G>A	11	95825541	95825541	G	A	MAML2	c.1654C>T	NM_032427.4	NP_115803.1:p.(Arg552Cys)	NC_000011.9:g.95825541G>A	VUS	2 labs	be349f3108
19:33355587 SLC7A9 A>T	19	33355587	33355587	A	T	SLC7A9	c.183T>A	NM_001243036.1	NP_001229965.1:p.(Ala61=)	NC_000019.9:g.33355587A>T	(Likely) benign	2 labs	be3ba9efb1
X:48759533 PQBP1 AGCCATGACAAGTCGGACAGGG>A	X	48759533	48759571	AGCCATGACAAGTCGGACAGGG	A	PQBP1	c.334_354del	NM_001032382.2	NP_001027554.1:p.(Gly113_Arg119del)	NC_000023.10:g.48759551_48759571del	(Likely) benign	2 labs	be4aeb3d04
19:46271941 SIX5 C>CGCCCCG	19	46271941	46271956	C	CGCCCCG	SIX5	c.156_161dup	NM_175875.4	NP_787071.2:p.(Gly55_Ala56dup)	NC_000019.9:g.46271951_46271956dup	(Likely) benign	2 labs	be4c86219f
17:43364394 MAP3K14 G>A	17	43364394	43364394	G	A	MAP3K14	c.555C>T	NM_003954.5	NP_003945.2:p.(Leu185=)	NC_000017.10:g.43364394G>A	(Likely) benign	2 labs	be4d07617a
8:61654132 CHD7 T>C	8	61654132	61654132	T	C	CHD7				NC_000008.10:g.61654132T>C	(Likely) benign	2 labs	be59427d7b
19:2108752 AP3D1 C>T	19	2108752	2108752	C	T	AP3D1	c.3486G>A	NM_001261826.3	NP_001248755.1:p.(Val1162=)	NC_000019.9:g.2108752C>T	(Likely) benign	2 labs	be6e4aa8bd
6:152683323 SYNE1 C>A	6	152683323	152683323	C	A	SYNE1	c.10281G>T	NM_182961.4	NP_892006.3:p.(Thr3427=)	NC_000006.11:g.152683323C>A	(Likely) benign	2 labs	be6d95951b
20:50406807 SALL4 C>A	20	50406807	50406807	C	A	SALL4	c.2215G>T	NM_020436.3	NP_065169.1:p.(Ala739Ser)	NC_000020.10:g.50406807C>A	(Likely) benign	2 labs	be757cd8be
16:17564347 XYLT1 C>T	16	17564347	17564347	C	T	XYLT1	c.307G>A	NM_022166.3	NP_071449.1:p.(Gly103Arg)	NC_000016.9:g.17564347C>T	(Likely) benign	2 labs	be758b9a3f
3:53757995 CACNA1D A>G	3	53757995	53757995	A	G	CACNA1D	c.2129A>G	NM_000720.4	NP_000711.1:p.(Asn710Ser)	NC_000003.11:g.53757995A>G	VUS	3 labs	be72902ef7
1:78401727 NEXN G>C	1	78401727	78401727	G	C	NEXN	c.1471G>C	NM_144573.3	NP_653174.3:p.(Glu491Gln)	NC_000001.10:g.78401727G>C	VUS	2 labs	be7d50a40a
9:135782198 TSC1 G>A	9	135782198	135782198	G	A	TSC1	c.1358C>T	NM_000368.4	NP_000359.1:p.(Ser453Phe)	NC_000009.11:g.135782198G>A	VUS	2 labs	be82c4822f
4:5620263 EVC2 G>A	4	5620263	5620263	G	A	EVC2	c.2408C>T	NM_001166136.1	NP_001159608.1:p.(Ala803Val)	NC_000004.11:g.5620263G>A	(Likely) benign	3 labs	be8db13fa8
1:216420460 USH2A C>A	1	216420460	216420460	C	A	USH2A	c.2276G>T	NM_206933.3	NP_996816.2:p.(Cys759Phe)	NC_000001.10:g.216420460C>A	(Likely) pathogenic	4 labs	be8a334a57
9:139390585 NOTCH1 C>T	9	139390585	139390585	C	T	NOTCH1	c.7606G>A	NM_017617.5	NP_060087.3:p.(Val2536Ile)	NC_000009.11:g.139390585C>T	(Likely) benign	3 labs	be90a92aec
2:179395825 TTN CAGA>C	2	179395825	179395830	CAGA	C	TTN	c.105514_105516del	NM_001267550.2	NP_001254479.2:p.(Ser35172del)	NC_000002.11:g.179395828_179395830del	VUS	5 labs	be967c4371
19:13008577 GCDH C>T	19	13008577	13008577	C	T	GCDH	c.1143C>T	NM_000159.4	NP_000150.1:p.(Ile381=)	NC_000019.9:g.13008577C>T	(Likely) benign	2 labs	be9b9a5e52
6:32797747 TAP2 T>C	6	32797747	32797747	T	C	TAP2	c.1755A>G	NM_001290043.1	NP_001276972.1:p.(Ala585=)	NC_000006.11:g.32797747T>C	(Likely) benign	2 labs	be97fb6e9d
16:2130198 TSC2 G>A	16	2130198	2130198	G	A	TSC2	c.3430G>A	NM_000548.3	NP_000539.2:p.(Val1144Met)	NC_000016.9:g.2130198G>A	(Likely) benign	2 labs	be9d31bec0
11:121440937 SORL1 T>C	11	121440937	121440937	T	C	SORL1	c.3295T>C	NM_003105.6	NP_003096.2:p.(Phe1099Leu)	NC_000011.9:g.121440937T>C	(Likely) benign	2 labs	bea90114fa
15:63991118 HERC1 A>C	15	63991118	63991118	A	C	HERC1	c.4714T>G	NM_003922.3	NP_003913.3:p.(Ser1572Ala)	NC_000015.9:g.63991118A>C	(Likely) benign	2 labs	beafd8e5cd
13:111134858 COL4A2 T>C	13	111134858	111134858	T	C	COL4A2	c.2759-5T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111134858T>C	(Likely) benign	3 labs	beb23d6fe9
4:187628341 FAT1 G>A	4	187628341	187628341	G	A	FAT1	c.2641C>T	NM_005245.3	NP_005236.2:p.(Arg881Cys)	NC_000004.11:g.187628341G>A	(Likely) benign	2 labs	bebaca92e9
3:11064022 SLC6A1 G>A	3	11064022	11064022	G	A	SLC6A1	c.582G>A	NM_003042.3	NP_003033.3:p.(Glu194=)	NC_000003.11:g.11064022G>A	(Likely) benign	3 labs	bebf1b4b7b
13:52548211 ATP7B G>C	13	52548211	52548211	G	C	ATP7B	c.1145C>G	NM_000053.4	NP_000044.2:p.(Ser382Cys)	NC_000013.10:g.52548211G>C	VUS	2 labs	bec4d24fbf
2:179494029 TTN T>G	2	179494029	179494029	T	G	TTN	c.44423A>C	NM_001267550.1	NP_001254479.1:p.(Lys14808Thr)	NC_000002.11:g.179494029T>G	VUS	2 labs	bec9db36f8
1:11852412 MTHFR G>A	1	11852412	11852412	G	A	MTHFR	c.1555C>T	NM_005957.5	NP_005948.3:p.(Arg519Cys)	NC_000001.10:g.11852412G>A	VUS	2 labs	beccf1c22d
X:153660248 ATP6AP1 G>C	X	153660248	153660248	G	C	ATP6AP1	c.361G>C	NM_001183.5	NP_001174.2:p.(Glu121Gln)	NC_000023.10:g.153660248G>C	(Likely) benign	3 labs	bedb2b3915
X:119580206 LAMP2 C>T	X	119580206	119580206	C	T	LAMP2	c.818G>A	NM_002294.3	NP_002285.1:p.(Arg273Lys)	NC_000023.10:g.119580206C>T	VUS	2 labs	bed4800a6c
X:29938193 IL1RAPL1 G>T	X	29938193	29938193	G	T	IL1RAPL1	c.1039G>T	NM_014271.4	NP_055086.1:p.(Val347Phe)	NC_000023.10:g.29938193G>T	VUS	3 labs	bee3209059
16:2120402 TSC2 T>C	16	2120402	2120402	T	C	TSC2	c.1717-55T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120402T>C	(Likely) benign	2 labs	beeb9bcc2a
14:23855849 MYH6 C>T	14	23855849	23855849	C	T	MYH6	c.4651-17G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855849C>T	(Likely) benign	3 labs	bef4014e7d
9:139412238 NOTCH1 G>A	9	139412238	139412238	G	A	NOTCH1	c.1407C>T	NM_017617.5	NP_060087.3:p.(Asp469=)	NC_000009.11:g.139412238G>A	(Likely) benign	3 labs	bef7758e2b
19:13409447 CACNA1A C>T	19	13409447	13409447	C	T	CACNA1A	c.3012G>A	NM_023035.2	NP_075461.2:p.(Glu1004=)	NC_000019.9:g.13409447C>T	(Likely) benign	2 labs	bef7de1c53
12:121432084 HNF1A C>T	12	121432084	121432084	C	T	HNF1A	c.831C>T	NM_000545.5	NP_000536.5:p.(Phe277=)	NC_000012.11:g.121432084C>T	(Likely) benign	2 labs	bf003b83b4
1:955724 AGRN G>A	1	955724	955724	G	A	AGRN	c.172G>A	NM_001305275.2	NP_001292204.1:p.(Asp58Asn)	NC_000001.10:g.955724G>A	VUS	2 labs	bf064850dc
8:144996320 PLEC G>A	8	144996320	144996320	G	A	PLEC	c.7750C>T	NM_000445.5	NP_000436.2:p.(Arg2584Trp)	NC_000008.10:g.144996320G>A	VUS	3 labs	bf09703c1e
2:26502057 HADHB C>T	2	26502057	26502057	C	T	HADHB	c.685C>T	NM_000183.2	NP_000174.1:p.(Arg229Ter)	NC_000002.11:g.26502057C>T	(Likely) pathogenic	2 labs	bf1bdfc484
7:31008687 GHRHR C>T	7	31008687	31008687	C	T	GHRHR	c.170C>T	NM_000823.3	NP_000814.2:p.(Ala57Val)	NC_000007.13:g.31008687C>T	(Likely) benign	2 labs	bf26a89224
17:19247075 B9D1 G>A	17	19247075	19247075	G	A	B9D1	c.500C>T	NM_001321215.3	NP_001308144.1:p.(Pro167Leu)	NC_000017.10:g.19247075G>A	(Likely) benign	2 labs	bf283d80ce
8:100833658 VPS13B A>C	8	100833658	100833658	A	C	VPS13B	c.9206A>C	NM_017890.5	NP_060360.3:p.(Glu3069Ala)	NC_000008.10:g.100833658A>C	VUS	2 labs	bf2b4e2a70
17:73513185 TSEN54 C>A	17	73513185	73513185	C	A	TSEN54	c.285+32C>A	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73513185C>A	(Likely) benign	2 labs	bf32142de0
X:49088206 CACNA1F C>T	X	49088206	49088206	C	T	CACNA1F	c.209G>A	NM_005183.3	NP_005174.2:p.(Arg70Gln)	NC_000023.10:g.49088206C>T	VUS	2 labs	bf3c4d17e5
1:94544234 ABCA4 T>C	1	94544234	94544234	T	C	ABCA4	c.1268A>G	NM_000350.2	NP_000341.2:p.(His423Arg)	NC_000001.10:g.94544234T>C	(Likely) benign	2 labs	bf43a48a54
1:45799266 MUTYH C>A	1	45799266	45799266	C	A	MUTYH	c.167G>T	NM_001128425.1	NP_001121897.1:p.(Gly56Val)	NC_000001.10:g.45799266C>A	(Likely) benign	2 labs	bf43afe317
2:179645885 TTN A>G	2	179645885	179645885	A	G	TTN	c.3486T>C	NM_001267550.2	NP_001254479.2:p.(His1162=)	NC_000002.11:g.179645885A>G	(Likely) benign	2 labs	bf4639b041
1:201019652 CACNA1S A>G	1	201019652	201019652	A	G	CACNA1S	c.4114-8T>C	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201019652A>G	(Likely) benign	2 labs	bf5bcb54a0
9:139399504 NOTCH1 G>C	9	139399504	139399504	G	C	NOTCH1	c.4639C>G	NM_017617.5	NP_060087.3:p.(Gln1547Glu)	NC_000009.11:g.139399504G>C	VUS	2 labs	bf67d7fe22
16:67685191 CARMIL2 C>T	16	67685191	67685191	C	T	CARMIL2	c.2286C>T	NM_001013838.2	NP_001013860.1:p.(Ala762=)	NC_000016.9:g.67685191C>T	(Likely) benign	2 labs	bf790c3317
12:25398285 KRAS C>T	12	25398285	25398285	C	T	KRAS	c.34G>A	NM_033360.3	NP_203524.1:p.(Gly12Ser)	NC_000012.11:g.25398285C>T	(Likely) pathogenic	2 labs	bf7cf4d1eb
2:219924961 IHH G>T	2	219924961	219924961	G	T	IHH	c.229C>A	NM_002181.3	NP_002172.2:p.(Arg77Ser)	NC_000002.11:g.219924961G>T	VUS	2 labs	bf83835c8c
2:179482807 TTN A>G	2	179482807	179482807	A	G	TTN	c.47271T>C	NM_001267550.2	NP_001254479.2:p.(Asp15757=)	NC_000002.11:g.179482807A>G	(Likely) benign	5 labs	bf868cf80e
7:83016312 SEMA3E T>A	7	83016312	83016312	T	A	SEMA3E	c.1722A>T	NM_012431.3	NP_036563.1:p.(Gly574=)	NC_000007.13:g.83016312T>A	(Likely) benign	2 labs	bf87f3d2ba
1:11288758 MTOR G>A	1	11288758	11288758	G	A	MTOR	c.2997C>T	NM_004958.4	NP_004949.1:p.(Asn999=)	NC_000001.10:g.11288758G>A	(Likely) benign	2 labs	bf89dec8de
16:2147956 PKD1 G>A	16	2147956	2147956	G	A	PKD1	c.10080C>T	NM_001009944.2	NP_001009944.2:p.(Ala3360=)	NC_000016.9:g.2147956G>A	(Likely) benign	3 labs	bf9b5d69bc
12:22068849 ABCC9 G>T	12	22068849	22068849	G	T	ABCC9	c.574-5C>A	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.22068849G>T	(Likely) benign	5 labs	bfa6950259
1:196953266 CFHR5 T>C	1	196953266	196953266	T	C	CFHR5	c.429T>C	NM_030787.3	NP_110414.1:p.(Thr143=)	NC_000001.10:g.196953266T>C	(Likely) benign	3 labs	bfb283b9b7
9:124083579 GSN G>A	9	124083579	124083579	G	A	GSN	c.1333G>A	NM_001127663.1	NP_001121135.2:p.(Val445Met)	NC_000009.11:g.124083579G>A	(Likely) benign	3 labs	bfd0635d32
18:72997861 TSHZ1 A>C	18	72997861	72997861	A	C	TSHZ1	c.364A>C	NM_005786.5	NP_005777.3:p.(Thr122Pro)	NC_000018.9:g.72997861A>C	(Likely) benign	2 labs	bfd12af391
15:72638920 HEXA G>GGATA	15	72638920	72638924	G	GGATA	HEXA	c.1307_1310dup	NM_001318825.1	NP_001305754.1:p.(Tyr438IlefsTer5)	NC_000015.9:g.72638921_72638924dup	(Likely) pathogenic	3 labs	bfd35493f9
19:1627409 TCF3 C>T	19	1627409	1627409	C	T	TCF3	c.315G>A	NM_003200.5	NP_003191.1:p.(Arg105=)	NC_000019.9:g.1627409C>T	(Likely) benign	3 labs	bfd92b0a34
9:138678248 KCNT1 C>T	9	138678248	138678248	C	T	KCNT1	c.3383C>T	NM_020822.3	NP_065873.2:p.(Ala1128Val)	NC_000009.11:g.138678248C>T	(Likely) benign	4 labs	bfe0bd7281
17:18034131 MYO15A AGTGT>A	17	18034131	18034185	AGTGT	A	MYO15A	c.4038+58_4038+61del	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18034182_18034185del	(Likely) benign	2 labs	bfddc32a0a
1:12008084 PLOD1 G>A	1	12008084	12008084	G	A	PLOD1	c.128G>A	NM_000302.3	NP_000293.2:p.(Arg43His)	NC_000001.10:g.12008084G>A	VUS	2 labs	bfed845757
1:201868510 LMOD1 G>T	1	201868510	201868510	G	T	LMOD1	c.1631C>A	NM_012134.3	NP_036266.2:p.(Pro544His)	NC_000001.10:g.201868510G>T	VUS	2 labs	bff2e384f9
9:123342259 CDK5RAP2 C>A	9	123342259	123342259	C	A	CDK5RAP2	n.187G>T	NR_073556.2		NC_000009.11:g.123342259C>A	(Likely) benign	3 labs	bff66a9226
9:36218241 GNE C>T	9	36218241	36218241	C	T	GNE	c.1872G>A	NM_005476.7	NP_005467.1:p.(Ala624=)	NC_000009.11:g.36218241C>T	(Likely) benign	2 labs	bff55d5d10
12:2675634 CACNA1C G>A	12	2675634	2675634	G	A	CACNA1C	c.1555G>A	NM_000719.7	NP_000710.5:p.(Ala519Thr)	NC_000012.11:g.2675634G>A	VUS	3 labs	c00b441069
7:117170947 CFTR T>C	7	117170947	117170947	T	C	CFTR	c.274-6T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117170947T>C	(Likely) benign	3 labs	c00a3fdd17
5:169535492 FOXI1 G>A	5	169535492	169535492	G	A	FOXI1	c.1014G>A	NM_012188.4	NP_036320.2:p.(Ala338=)	NC_000005.9:g.169535492G>A	(Likely) benign	2 labs	c01938fd81
20:3870023 PANK2 G>A	20	3870023	3870023	G	A	PANK2	c.276G>A	NM_153638.4	NP_705902.2:p.(Arg92=)	NC_000020.10:g.3870023G>A	(Likely) benign	3 labs	c01bb1a08d
2:63664647 WDPCP G>A	2	63664647	63664647	G	A	WDPCP	c.469C>T	NM_001354044.1	NP_001340973.1:p.(Gln157Ter)	NC_000002.11:g.63664647G>A	(Likely) pathogenic	2 labs	c0203adf8b
9:139405154 NOTCH1 G>A	9	139405154	139405154	G	A	NOTCH1	c.2691C>T	NM_017617.5	NP_060087.3:p.(Ala897=)	NC_000009.11:g.139405154G>A	(Likely) benign	4 labs	c0306bd3e5
X:18622657 CDKL5 C>T	X	18622657	18622657	C	T	CDKL5	c.1613C>T	NM_003159.2	NP_003150.1:p.(Thr538Met)	NC_000023.10:g.18622657C>T	(Likely) benign	2 labs	c038c4aae1
1:147380740 GJA8 A>G	1	147380740	147380740	A	G	GJA8	c.658A>G	NM_005267.4	NP_005258.2:p.(Asn220Asp)	NC_000001.10:g.147380740A>G	(Likely) benign	2 labs	c0394db080
18:42643426 SETBP1 G>A	18	42643426	42643426	G	A	SETBP1	c.4554G>A	NM_015559.3	NP_056374.2:p.(Glu1518=)	NC_000018.9:g.42643426G>A	(Likely) benign	2 labs	c042526615
6:152647218 SYNE1 C>T	6	152647218	152647218	C	T	SYNE1	c.15100G>A	NM_033071.4	NP_149062.2:p.(Asp5034Asn)	NC_000006.11:g.152647218C>T	(Likely) benign	2 labs	c0403f5385
7:33312657 BBS9 C>T	7	33312657	33312657	C	T	BBS9	c.463C>T	NM_001348038.2	NP_001334967.1:p.(Leu155Phe)	NC_000007.13:g.33312657C>T	VUS	2 labs	c0467de242
16:15826493 MYH11 C>G	16	15826493	15826493	C	G	MYH11	c.3600G>C	NM_001040113.1	NP_001035202.1:p.(Gln1200His)	NC_000016.9:g.15826493C>G	VUS	2 labs	c046bc8460
17:16843666 TNFRSF13B C>T	17	16843666	16843666	C	T	TNFRSF13B	c.605G>A	NM_012452.3	NP_036584.1:p.(Arg202His)	NC_000017.10:g.16843666C>T	VUS	2 labs	c04f42e835
17:10544696 MYH3 G>GA	17	10544696	10544706	G	GA	MYH3	c.1960-8dup	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10544706dup	(Likely) benign	4 labs	c0570613b3
11:44331509 ALX4 C>G	11	44331509	44331509	C	G	ALX4	c.104G>C	NM_021926.4	NP_068745.2:p.(Arg35Thr)	NC_000011.9:g.44331509C>G	(Likely) benign	2 labs	c060c82fee
19:42777573 CIC C>T	19	42777573	42777573	C	T	CIC	c.1638C>T	NM_001304815.1	NP_001291744.1:p.(Pro546=)	NC_000019.9:g.42777573C>T	(Likely) benign	2 labs	c060fa6fe0
2:110919041 NPHP1 A>G	2	110919041	110919041	A	G	NPHP1	c.1122+139T>C	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110919041A>G	(Likely) benign	2 labs	c067ef6aae
4:126389868 FAT4 G>C	4	126389868	126389868	G	C	FAT4	c.12107G>C	NM_001291303.1	NP_001278232.1:p.(Arg4036Thr)	NC_000004.11:g.126389868G>C	VUS	2 labs	c069a0f020
1:247588393 NLRP3 C>T	1	247588393	247588393	C	T	NLRP3	c.1642C>T	NM_001243133.1	NP_001230062.1:p.(Arg548Cys)	NC_000001.10:g.247588393C>T	VUS	2 labs	c06aafe5e0
6:88240519 RARS2 A>T	6	88240519	88240519	A	T	RARS2	c.229T>A	NM_001350508.1	NP_001337437.1:p.(Tyr77Asn)	NC_000006.11:g.88240519A>T	VUS	3 labs	c076e48622
12:49446800 KMT2D G>A	12	49446800	49446800	G	A	KMT2D	c.1010C>T	NM_003482.3	NP_003473.3:p.(Ser337Leu)	NC_000012.11:g.49446800G>A	(Likely) benign	2 labs	c07757e278
16:89351947 ANKRD11 C>T	16	89351947	89351947	C	T	ANKRD11	c.1003G>A	NM_001256182.1	NP_001243111.1:p.(Glu335Lys)	NC_000016.9:g.89351947C>T	(Likely) benign	2 labs	c0777c7a34
19:14876469 ADGRE2 C>T	19	14876469	14876469	C	T	ADGRE2	c.781+1G>A	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14876469C>T	VUS	2 labs	c07d0a1db9
7:99703891 AP4M1 C>T	7	99703891	99703891	C	T	AP4M1	c.1002C>T	NM_004722.3	NP_004713.2:p.(Leu334=)	NC_000007.13:g.99703891C>T	(Likely) benign	2 labs	c08bd96ecc
1:9777085 PIK3CD C>T	1	9777085	9777085	C	T	PIK3CD	c.849C>T	NM_005026.3	NP_005017.3:p.(Leu283=)	NC_000001.10:g.9777085C>T	(Likely) benign	2 labs	c091008469
2:179589136 TTN G>C	2	179589136	179589136	G	C	TTN	c.20966C>G	NM_001267550.2	NP_001254479.2:p.(Thr6989Ser)	NC_000002.11:g.179589136G>C	VUS	2 labs	c0a315490d
14:23866269 MYH6 C>T	14	23866269	23866269	C	T	MYH6	c.2071G>A	NM_002471.4	NP_002462.2:p.(Val691Ile)	NC_000014.8:g.23866269C>T	(Likely) benign	4 labs	c0a1acff4c
15:90192996 KIF7 G>A	15	90192996	90192996	G	A	KIF7	c.505C>T	NM_198525.2	NP_940927.2:p.(Arg169Trp)	NC_000015.9:g.90192996G>A	VUS	2 labs	c0b1d9299c
15:48813004 FBN1 T>G	15	48813004	48813004	T	G	FBN1	c.999A>C	NM_000138.4	NP_000129.3:p.(Pro333=)	NC_000015.9:g.48813004T>G	(Likely) benign	2 labs	c0b4ffb4d5
17:10432367 MYH2 G>A	17	10432367	10432367	G	A	MYH2	c.3384C>T	NM_001100112.2	NP_001093582.1:p.(Ile1128=)	NC_000017.10:g.10432367G>A	(Likely) benign	2 labs	c0acd51777
10:69954290 MYPN G>A	10	69954290	69954290	G	A	MYPN	c.3075+21G>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69954290G>A	(Likely) benign	2 labs	c0bc00d28d
14:95566108 DICER1 C>A	14	95566108	95566108	C	A	DICER1	c.4206+9G>T	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95566108C>A	(Likely) benign	2 labs	c0be914b44
13:110850842 COL4A1 A>G	13	110850842	110850842	A	G	COL4A1	c.1257T>C	NM_001845.6	NP_001836.3:p.(Pro419=)	NC_000013.10:g.110850842A>G	(Likely) benign	4 labs	c0cdaa645e
5:127641563 FBN2 C>T	5	127641563	127641563	C	T	FBN2	c.5500G>A	NM_001999.3	NP_001990.2:p.(Glu1834Lys)	NC_000005.9:g.127641563C>T	VUS	3 labs	c0d1b3912b
4:113568417 LARP7 AAAG>A	4	113568417	113568425	AAAG	A	LARP7	c.715_717del	NM_016648.4	NP_057732.2:p.(Glu239del)	NC_000004.11:g.113568423_113568425del	VUS	2 labs	c0d336de12
1:2340212 PEX10 G>A	1	2340212	2340212	G	A	PEX10	c.279C>T	NM_153818.2	NP_722540.1:p.(Gly93=)	NC_000001.10:g.2340212G>A	(Likely) benign	2 labs	c0d60223db
12:5022002 KCNA1 T>C	12	5022002	5022002	T	C	KCNA1	c.1458T>C	NM_000217.3	NP_000208.2:p.(Val486=)	NC_000012.11:g.5022002T>C	(Likely) benign	2 labs	c0deace34b
17:48263704 COL1A1 C>T	17	48263704	48263704	C	T	COL1A1	c.3979G>A	NM_000088.3	NP_000079.2:p.(Gly1327Ser)	NC_000017.10:g.48263704C>T	VUS	2 labs	c0f428261a
X:152956908 SLC6A8 G>A	X	152956908	152956908	G	A	SLC6A8	c.544G>A	NM_005629.3	NP_005620.1:p.(Val182Met)	NC_000023.10:g.152956908G>A	(Likely) benign	2 labs	c0fb44b7f4
17:29548950 NF1 A>G	17	29548950	29548950	A	G	NF1	c.1721+3A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548950A>G	(Likely) pathogenic	2 labs	c0fd346c0f
X:76939445 ATRX T>C	X	76939445	76939445	T	C	ATRX	c.1303A>G	NM_000489.5	NP_000480.3:p.(Ile435Val)	NC_000023.10:g.76939445T>C	(Likely) benign	2 labs	c10290ac70
2:179480360 TTN G>A	2	179480360	179480360	G	A	TTN	c.48460+8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480360G>A	(Likely) benign	3 labs	c10017148d
19:33904511 PEPD C>T	19	33904511	33904511	C	T	PEPD	c.710G>A	NM_000285.4	NP_000276.2:p.(Arg237His)	NC_000019.9:g.33904511C>T	VUS	3 labs	c109213069
12:52139730 SCN8A T>A	12	52139730	52139730	T	A	SCN8A	c.2042T>A	NM_001330260.1	NP_001317189.1:p.(Leu681His)	NC_000012.11:g.52139730T>A	VUS	2 labs	c10424211a
1:11102940 MASP2 G>A	1	11102940	11102940	G	A	MASP2	c.881C>T	NM_006610.3	NP_006601.2:p.(Thr294Met)	NC_000001.10:g.11102940G>A	(Likely) benign	2 labs	c109bd34a9
6:7567688 DSP T>C	6	7567688	7567688	T	C	DSP	c.1140+6T>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7567688T>C	(Likely) benign	2 labs	c10fa7eead
16:8895729 PMM2 C>A	16	8895729	8895729	C	A	PMM2	c.140C>A	NM_000303.2	NP_000294.1:p.(Ser47Ter)	NC_000016.9:g.8895729C>A	(Likely) pathogenic	2 labs	c111dc277c
3:58111460 FLNB G>A	3	58111460	58111460	G	A	FLNB	c.4051G>A	NM_001164317.1	NP_001157789.1:p.(Val1351Met)	NC_000003.11:g.58111460G>A	VUS	2 labs	c11480a4e4
9:123170733 CDK5RAP2 C>G	9	123170733	123170733	C	G	CDK5RAP2	c.4618G>C	NM_018249.6	NP_060719.4:p.(Val1540Leu)	NC_000009.11:g.123170733C>G	(Likely) benign	3 labs	c11d52ba6e
10:50738781 ERCC6 T>C	10	50738781	50738781	T	C	ERCC6	c.528A>G	NM_000124.2	NP_000115.1:p.(Arg176=)	NC_000010.10:g.50738781T>C	(Likely) benign	2 labs	c11b633c2a
15:72106356 NR2E3 C>T	15	72106356	72106356	C	T	NR2E3	c.998C>T	NM_016346.3	NP_057430.1:p.(Thr333Met)	NC_000015.9:g.72106356C>T	VUS	2 labs	c11f071a6e
14:88411981 GALC G>A	14	88411981	88411981	G	A	GALC	c.1586C>T	NM_000153.3	NP_000144.2:p.(Thr529Met)	NC_000014.8:g.88411981G>A	(Likely) pathogenic	3 labs	c1299f6124
9:135224757 SETX C>T	9	135224757	135224757	C	T	SETX	c.59G>A	NM_015046.7	NP_055861.3:p.(Arg20His)	NC_000009.11:g.135224757C>T	(Likely) benign	3 labs	c134b24ee6
17:41246023 BRCA1 T>C	17	41246023	41246023	T	C	BRCA1	c.1525A>G	NM_007294.3	NP_009225.1:p.(Thr509Ala)	NC_000017.10:g.41246023T>C	(Likely) benign	4 labs	c13eede891
8:100494026 VPS13B C>G	8	100494026	100494026	C	G	VPS13B	c.3866C>G	NM_017890.4	NP_060360.3:p.(Thr1289Ser)	NC_000008.10:g.100494026C>G	VUS	3 labs	c145f36931
10:69959338 MYPN G>A	10	69959338	69959338	G	A	MYPN	c.3493+6G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69959338G>A	(Likely) benign	2 labs	c1468032dd
7:6026836 PMS2 C>T	7	6026836	6026836	C	T	PMS2	c.1251G>A	NM_001322015.1	NP_001308944.1:p.(Ala417=)	NC_000007.13:g.6026836C>T	(Likely) benign	2 labs	c1590b4388
16:2161788 PKD1 G>A	16	2161788	2161788	G	A	PKD1	c.3380C>T	NM_001009944.3	NP_001009944.3:p.(Pro1127Leu)	NC_000016.9:g.2161788G>A	(Likely) benign	4 labs	c1605eabeb
17:40695929 NAGLU C>T	17	40695929	40695929	C	T	NAGLU	c.1905C>T	NM_000263.4	NP_000254.2:p.(Ala635=)	NC_000017.10:g.40695929C>T	(Likely) benign	3 labs	c1687e43e4
6:90660581 BACH2 C>T	6	90660581	90660581	C	T	BACH2	c.1244G>A	NM_021813.4	NP_068585.1:p.(Gly415Glu)	NC_000006.11:g.90660581C>T	(Likely) benign	2 labs	c17a0e0869
6:7542160 DSP C>G	6	7542160	7542160	C	G	DSP	c.12C>G	NM_004415.4	NP_004406.2:p.(Asn4Lys)	NC_000006.11:g.7542160C>G	(Likely) benign	2 labs	c176f26c11
19:13397633 CACNA1A G>A	19	13397633	13397633	G	A	CACNA1A	c.3249C>T	NM_023035.2	NP_075461.2:p.(Ala1083=)	NC_000019.9:g.13397633G>A	(Likely) benign	2 labs	c17f0794c2
4:3526715 LRPAP1 C>T	4	3526715	3526715	C	T	LRPAP1	c.268G>A	NM_002337.4	NP_002328.1:p.(Glu90Lys)	NC_000004.11:g.3526715C>T	VUS	2 labs	c18c203f0d
13:32914809 BRCA2 T>C	13	32914809	32914809	T	C	BRCA2	c.6317T>C	NM_000059.4	NP_000050.3:p.(Leu2106Pro)	NC_000013.10:g.32914809T>C	(Likely) benign	6 labs	c189412e15
X:106228456 MORC4 C>T	X	106228456	106228456	C	T	MORC4	c.544G>A	NM_024657.5	NP_078933.3:p.(Glu182Lys)	NC_000023.10:g.106228456C>T	(Likely) benign	2 labs	c19c477a7c
5:55243420 IL6ST T>TA	5	55243420	55243445	T	TA	IL6ST	c.1841-4dup	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243445dup	(Likely) benign	3 labs	c1a9fa8e2c
16:15932053 MYH11 G>A	16	15932053	15932053	G	A	MYH11	c.57C>T	NM_001040113.1	NP_001035202.1:p.(Asn19=)	NC_000016.9:g.15932053G>A	(Likely) benign	2 labs	c1aacf70ef
1:176671815 PAPPA2 G>A	1	176671815	176671815	G	A	PAPPA2	c.3309G>A	NM_020318.2	NP_064714.2:p.(Ser1103=)	NC_000001.10:g.176671815G>A	(Likely) benign	2 labs	c1b253267d
2:220078006 ABCB6 C>T	2	220078006	220078006	C	T	ABCB6	c.1762G>A	NM_005689.4	NP_005680.1:p.(Gly588Ser)	NC_000002.11:g.220078006C>T	(Likely) benign	3 labs	c1ad92c11c
13:32890587 BRCA2 C>T	13	32890587	32890587	C	T	BRCA2	c.-11C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890587C>T	(Likely) benign	5 labs	c1b655e394
19:13320188 CACNA1A C>A	19	13320188	13320188	C	A	CACNA1A	c.6482G>T	NM_023035.2	NP_075461.2:p.(Arg2161Leu)	NC_000019.9:g.13320188C>A	(Likely) benign	2 labs	c1c1e9b29a
2:50280604 NRXN1 T>C	2	50280604	50280604	T	C	NRXN1	c.4053A>G	NM_001135659.3	NP_001129131.1:p.(Ala1351=)	NC_000002.11:g.50280604T>C	(Likely) benign	2 labs	c1e12f730f
10:97445351 TCTN3 G>A	10	97445351	97445351	G	A	TCTN3	c.931C>T	NM_015631.5	NP_056446.4:p.(Leu311=)	NC_000010.10:g.97445351G>A	(Likely) benign	2 labs	c1e3041583
19:13136293 NFIX C>T	19	13136293	13136293	C	T	NFIX				NC_000019.9:g.13136293C>T	(Likely) benign	2 labs	c1e43745f9
14:68265046 ZFYVE26 T>C	14	68265046	68265046	T	C	ZFYVE26	c.1933A>G	NM_015346.3	NP_056161.2:p.(Met645Val)	NC_000014.8:g.68265046T>C	(Likely) benign	2 labs	c1f085a32a
17:40693092 NAGLU C>T	17	40693092	40693092	C	T	NAGLU	c.889C>T	NM_000263.4	NP_000254.2:p.(Arg297Ter)	NC_000017.10:g.40693092C>T	(Likely) pathogenic	3 labs	c1f6fc2a3d
1:200534255 KIF14 T>A	1	200534255	200534255	T	A	KIF14	c.4013A>T	NM_014875.2	NP_055690.1:p.(Glu1338Val)	NC_000001.10:g.200534255T>A	(Likely) benign	2 labs	c1f4b39717
14:21792811 RPGRIP1 G>A	14	21792811	21792811	G	A	RPGRIP1	c.1797G>A	NM_020366.3	NP_065099.3:p.(Pro599=)	NC_000014.8:g.21792811G>A	(Likely) benign	2 labs	c1fa72981f
22:19868153 TXNRD2 A>G	22	19868153	19868153	A	G	TXNRD2	c.1174T>C	NM_006440.5	NP_006431.2:p.(Tyr392His)	NC_000022.10:g.19868153A>G	(Likely) benign	2 labs	c1fea72a86
8:119122830 EXT1 G>T	8	119122830	119122830	G	T	EXT1	c.456C>A	NM_000127.2	NP_000118.2:p.(Cys152Ter)	NC_000008.10:g.119122830G>T	(Likely) pathogenic	2 labs	c201dfa91d
7:148080787 CNTNAP2 A>T	7	148080787	148080787	A	T	CNTNAP2	c.3522A>T	NM_014141.5	NP_054860.1:p.(Gly1174=)	NC_000007.13:g.148080787A>T	(Likely) benign	2 labs	c204c783e2
5:112111309 APC T>TA	5	112111309	112111322	T	TA	APC	c.423-4dup	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111322dup	(Likely) benign	3 labs	c21f3e8210
16:2112989 TSC2 G>A	16	2112989	2112989	G	A	TSC2	c.1378G>A	NM_000548.5	NP_000539.2:p.(Ala460Thr)	NC_000016.9:g.2112989G>A	(Likely) benign	2 labs	c216dd8b21
19:2114126 AP3D1 TCTTCTC>T	19	2114126	2114143	TCTTCTC	T	AP3D1	c.2593_2598del	NM_001261826.3	NP_001248755.1:p.(Glu865_Lys866del)	NC_000019.9:g.2114138_2114143del	(Likely) benign	4 labs	c22322cfa1
14:23894202 MYH7 G>A	14	23894202	23894202	G	A	MYH7	c.2455C>T	NM_000257.2	NP_000248.2:p.(Arg819Trp)	NC_000014.8:g.23894202G>A	VUS	2 labs	c22f66daf5
13:110839625 COL4A1 G>A	13	110839625	110839625	G	A	COL4A1	c.1588C>T	NM_001845.6	NP_001836.3:p.(Pro530Ser)	NC_000013.10:g.110839625G>A	VUS	3 labs	c23c176e8d
3:132415666 NPHP3 G>A	3	132415666	132415666	G	A	NPHP3	c.2089-9C>T	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132415666G>A	(Likely) benign	2 labs	c235855bd4
1:40562882 PPT1 A>T	1	40562882	40562882	A	T	PPT1	c.29T>A	NM_000310.3	NP_000301.1:p.(Leu10Ter)	NC_000001.10:g.40562882A>T	(Likely) pathogenic	2 labs	c23cd1d2bb
9:98997810 HSD17B3 C>T	9	98997810	98997810	C	T	HSD17B3	c.865G>A	NM_000197.2	NP_000188.1:p.(Gly289Ser)	NC_000009.11:g.98997810C>T	(Likely) benign	2 labs	c23f246c9b
14:23893175 MYH7 C>T	14	23893175	23893175	C	T	MYH7	c.2863G>A	NM_000257.4	NP_000248.2:p.(Asp955Asn)	NC_000014.8:g.23893175C>T	(Likely) pathogenic	4 labs	c241a8282a
3:48602832 COL7A1 GCTGTCCTCACCTTC>G	3	48602832	48602848	GCTGTCCTCACCTTC	G	COL7A1	c.8524_8527+10del	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48602835_48602848del	(Likely) pathogenic	2 labs	c248dfa334
5:149497321 PDGFRB T>A	5	149497321	149497321	T	A	PDGFRB	c.2997A>T	NM_002609.4	NP_002600.1:p.(Arg999=)	NC_000005.9:g.149497321T>A	(Likely) benign	2 labs	c252e1691c
17:29585360 NF1 A>G	17	29585360	29585360	A	G	NF1	c.4111-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29585360A>G	(Likely) pathogenic	2 labs	c2537a9faf
2:152435919 NEB C>T	2	152435919	152435919	C	T	NEB	c.16637G>A	NM_001271208.1	NP_001258137.1:p.(Arg5546His)	NC_000002.11:g.152435919C>T	(Likely) benign	2 labs	c255b358da
3:136016912 PCCB C>T	3	136016912	136016912	C	T	PCCB	c.942C>T	NM_001178014.1	NP_001171485.1:p.(Pro314=)	NC_000003.11:g.136016912C>T	(Likely) benign	2 labs	c256475085
1:214818291 CENPF G>A	1	214818291	214818291	G	A	CENPF	c.5378G>A	NM_016343.3	NP_057427.3:p.(Arg1793His)	NC_000001.10:g.214818291G>A	(Likely) benign	2 labs	c25883d9fc
4:123868644 AFG2A G>A	4	123868644	123868644	G	A	AFG2A	c.1714+1G>A	NM_145207.2	NP_660208.2:p.?	NC_000004.11:g.123868644G>A	(Likely) pathogenic	2 labs	c259e9c5ac
14:102481666 DYNC1H1 G>T	14	102481666	102481666	G	T	DYNC1H1	c.7239G>T	NM_001376.5	NP_001367.2:p.(Leu2413=)	NC_000014.8:g.102481666G>T	(Likely) benign	2 labs	c25cff8a70
X:76918867 ATRX T>G	X	76918867	76918867	T	G	ATRX	c.4120+4A>C	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76918867T>G	(Likely) benign	2 labs	c2706e9d7c
19:42796366 CIC G>A	19	42796366	42796366	G	A	CIC	c.5735+7G>A	NM_001304815.1	NP_001291744.1:p.?	NC_000019.9:g.42796366G>A	(Likely) benign	2 labs	c2749afee5
10:90768676 FAS C>T	10	90768676	90768676	C	T	FAS	c.365C>T	NM_000043.4	NP_000034.1:p.(Thr122Ile)	NC_000010.10:g.90768676C>T	(Likely) benign	2 labs	c277f654b6
15:73614847 HCN4 C>T	15	73614847	73614847	C	T	HCN4	c.3587G>A	NM_005477.3	NP_005468.1:p.(Arg1196His)	NC_000015.9:g.73614847C>T	(Likely) benign	3 labs	c273d18036
15:28230238 OCA2 T>C	15	28230238	28230238	T	C	OCA2	c.1336A>G	NM_000275.2	NP_000266.2:p.(Met446Val)	NC_000015.9:g.28230238T>C	VUS	2 labs	c27a6916c7
5:180051002 FLT4 G>A	5	180051002	180051002	G	A	FLT4	c.1481C>T	NM_182925.4	NP_891555.2:p.(Thr494Met)	NC_000005.9:g.180051002G>A	(Likely) benign	2 labs	c28329cbca
14:23871683 MYH6 G>A	14	23871683	23871683	G	A	MYH6	c.1131C>T	NM_002471.4	NP_002462.2:p.(Asp377=)	NC_000014.8:g.23871683G>A	(Likely) benign	3 labs	c27af46e00
20:30408049 MYLK2 C>A	20	30408049	30408049	C	A	MYLK2	c.173C>A	NM_033118.4	NP_149109.1:p.(Ala58Asp)	NC_000020.10:g.30408049C>A	(Likely) benign	2 labs	c2860fbc70
7:50611663 DDC G>T	7	50611663	50611663	G	T	DDC	c.121C>A	NM_001082971.1	NP_001076440.1:p.(Leu41Met)	NC_000007.13:g.50611663G>T	VUS	2 labs	c28509de75
13:110866109 COL4A1 T>A	13	110866109	110866109	T	A	COL4A1	c.279+20A>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110866109T>A	(Likely) benign	2 labs	c289c1b323
7:117227832 CFTR G>T	7	117227832	117227832	G	T	CFTR	c.1624G>T	NM_000492.4	NP_000483.3:p.(Gly542Ter)	NC_000007.13:g.117227832G>T	(Likely) pathogenic	3 labs	c292eabbd8
17:78081526 GAA A>AGCAGCGG	17	78081526	78081529	A	AGCAGCGG	GAA	c.858+7_858+8insAGCGGGC	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081528_78081529insAGCGGGC	(Likely) benign	5 labs	c29b9ee350
2:179395752 TTN C>T	2	179395752	179395752	C	T	TTN	c.105590G>A	NM_001267550.2	NP_001254479.2:p.(Gly35197Asp)	NC_000002.11:g.179395752C>T	VUS	3 labs	c2a7430239
17:5445271 NLRP1 C>T	17	5445271	5445271	C	T	NLRP1	c.2605G>A	NM_033004.4	NP_127497.1:p.(Glu869Lys)	NC_000017.10:g.5445271C>T	(Likely) benign	2 labs	c2a0c9f01f
4:178355548 AGA C>T	4	178355548	178355548	C	T	AGA	c.794G>A	NM_000027.3	NP_000018.2:p.(Arg265His)	NC_000004.11:g.178355548C>T	VUS	2 labs	c2a22fc87b
10:75397503 MYOZ1 A>G	10	75397503	75397503	A	G	MYOZ1	c.251T>C	NM_021245.4	NP_067068.1:p.(Met84Thr)	NC_000010.10:g.75397503A>G	VUS	2 labs	c2b2d0e24f
10:105664861 STN1 C>T	10	105664861	105664861	C	T	STN1	c.283G>A	NM_024928.5	NP_079204.2:p.(Glu95Lys)	NC_000010.10:g.105664861C>T	(Likely) benign	2 labs	c2c83c4d7d
6:15524661 DTNBP1 C>T	6	15524661	15524661	C	T	DTNBP1	c.907G>A	NM_183040.2	NP_898861.1:p.(Ala303Thr)	NC_000006.11:g.15524661C>T	(Likely) benign	2 labs	c2c855ff78
8:108509559 ANGPT1 C>T	8	108509559	108509559	C	T	ANGPT1	c.228G>A	NM_001146.5	NP_001137.2:p.(Pro76=)	NC_000008.10:g.108509559C>T	(Likely) benign	3 labs	c2b99c0d66
12:7174996 C1S C>T	12	7174996	7174996	C	T	C1S	c.1116C>T	NM_201442.4	NP_958850.1:p.(Asp372=)	NC_000012.11:g.7174996C>T	(Likely) benign	2 labs	c2bb34e173
4:128808620 PLK4 A>T	4	128808620	128808620	A	T	PLK4	c.1428A>T	NM_014264.5	NP_055079.3:p.(Val476=)	NC_000004.11:g.128808620A>T	(Likely) benign	2 labs	c2d11e0e87
12:116429001 MED13L G>A	12	116429001	116429001	G	A	MED13L	c.3758C>T	NM_015335.4	NP_056150.1:p.(Thr1253Ile)	NC_000012.11:g.116429001G>A	(Likely) benign	2 labs	c2dc66b930
8:55538872 RP1 C>A	8	55538872	55538872	C	A	RP1	c.2430C>A	NM_006269.2	NP_006260.1:p.(Cys810Ter)	NC_000008.10:g.55538872C>A	(Likely) pathogenic	3 labs	c2d6b1e407
2:179396823 TTN C>T	2	179396823	179396823	C	T	TTN	c.104519G>A	NM_001267550.2	NP_001254479.2:p.(Arg34840Gln)	NC_000002.11:g.179396823C>T	VUS	2 labs	c2da915f65
4:79458283 FRAS1 A>G	4	79458283	79458283	A	G	FRAS1	c.11227A>G	NM_025074.7	NP_079350.5:p.(Ile3743Val)	NC_000004.11:g.79458283A>G	(Likely) benign	3 labs	c2e17f3580
X:77275780 ATP7A T>C	X	77275780	77275780	T	C	ATP7A	c.2666T>C	NM_000052.6	NP_000043.4:p.(Val889Ala)	NC_000023.10:g.77275780T>C	VUS	2 labs	c2e6f8b783
5:176638521 NSD1 A>G	5	176638521	176638521	A	G	NSD1	c.3121A>G	NM_022455.4	NP_071900.2:p.(Asn1041Asp)	NC_000005.9:g.176638521A>G	(Likely) benign	2 labs	c2e7a62c3d
11:47603984 NDUFS3 T>C	11	47603984	47603984	T	C	NDUFS3	c.591T>C	NM_004551.3	NP_004542.1:p.(Pro197=)	NC_000011.9:g.47603984T>C	(Likely) benign	2 labs	c2f20af2ee
1:247587174 NLRP3 C>T	1	247587174	247587174	C	T	NLRP3	c.423C>T	NM_001243133.1	NP_001230062.1:p.(Tyr141=)	NC_000001.10:g.247587174C>T	(Likely) benign	2 labs	c2e9071272
8:61654599 CHD7 A>G	8	61654599	61654599	A	G	CHD7				NC_000008.10:g.61654599A>G	(Likely) benign	2 labs	c2f6546089
8:126079895 WASHC5 T>C	8	126079895	126079895	T	C	WASHC5	c.1217A>G	NM_014846.3	NP_055661.3:p.(Asn406Ser)	NC_000008.10:g.126079895T>C	VUS	3 labs	c2f84f1888
8:95866056 INTS8 T>C	8	95866056	95866056	T	C	INTS8	c.1665T>C	NM_017864.3	NP_060334.2:p.(Ser555=)	NC_000008.10:g.95866056T>C	(Likely) benign	2 labs	c2fa818cb7
2:233344925 ECEL1 G>A	2	233344925	233344925	G	A	ECEL1	c.2266C>T	NM_004826.3	NP_004817.2:p.(Arg756Trp)	NC_000002.11:g.233344925G>A	VUS	2 labs	c2fc66df19
5:16769310 MYO10 C>T	5	16769310	16769310	C	T	MYO10	c.933G>A	NM_012334.3	NP_036466.2:p.(Thr311=)	NC_000005.9:g.16769310C>T	(Likely) benign	2 labs	c2fe82239c
16:49669726 ZNF423 C>T	16	49669726	49669726	C	T	ZNF423	c.3157G>A	NM_001271620.2	NP_001258549.1:p.(Ala1053Thr)	NC_000016.9:g.49669726C>T	(Likely) benign	2 labs	c2ff2e1a71
18:67864923 RTTN C>G	18	67864923	67864923	C	G	RTTN	c.630G>C	NM_173630.4	NP_775901.3:p.(Leu210Phe)	NC_000018.9:g.67864923C>G	VUS	2 labs	c3010f85a7
4:1806092 FGFR3 A>T	4	1806092	1806092	A	T	FGFR3	c.1111A>T	NM_000142.5	NP_000133.1:p.(Ser371Cys)	NC_000004.11:g.1806092A>T	(Likely) pathogenic	3 labs	c30891865e
1:183536457 NCF2 C>T	1	183536457	183536457	C	T	NCF2	c.737G>A	NM_000433.3	NP_000424.2:p.(Arg246His)	NC_000001.10:g.183536457C>T	VUS	2 labs	c304b10eb7
X:54071307 PHF8 C>T	X	54071307	54071307	C	T	PHF8	c.16+1G>A	NM_001184896.1	NP_001171825.1:p.?	NC_000023.10:g.54071307C>T	VUS	2 labs	c31128d33a
2:234725513 MROH2A C>CCA	2	234725513	234725517	C	CCA	MROH2A	c.2946_2947dup	NM_001367507.1	NP_001354436.1:p.(Ser983ThrfsTer9)	NC_000002.11:g.234725516_234725517dup	(Likely) benign	2 labs	c318a5bee1
7:147674948 CNTNAP2 A>T	7	147674948	147674948	A	T	CNTNAP2	c.2256-6A>T	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147674948A>T	(Likely) benign	2 labs	c319cf2eb8
2:219137452 PNKD G>A	2	219137452	219137452	G	A	PNKD	c.396G>A	NM_001077399.3	NP_001070867.1:p.(Pro132=)	NC_000002.11:g.219137452G>A	(Likely) benign	2 labs	c32a0f0750
11:120973407 TECTA C>A	11	120973407	120973407	C	A	TECTA	c.33C>A	NM_005422.2	NP_005413.2:p.(Val11=)	NC_000011.9:g.120973407C>A	(Likely) benign	2 labs	c323ee56b6
1:103364285 COL11A1 G>A	1	103364285	103364285	G	A	COL11A1	c.4221C>T	NM_080629.3	NP_542196.2:p.(Val1407=)	NC_000001.10:g.103364285G>A	(Likely) benign	2 labs	c347aadd24
10:97969596 BLNK G>A	10	97969596	97969596	G	A	BLNK	c.744C>T	NM_013314.3	NP_037446.1:p.(Ala248=)	NC_000010.10:g.97969596G>A	(Likely) benign	2 labs	c354c567ad
13:32913046 BRCA2 AC>A	13	32913046	32913048	AC	A	BRCA2	c.4556del	NM_000059.4	NP_000050.3:p.(Pro1519LeufsTer24)	NC_000013.10:g.32913048del	(Likely) pathogenic	2 labs	c36ce6039d
12:40657700 LRRK2 C>G	12	40657700	40657700	C	G	LRRK2	c.1653C>G	NM_198578.4	NP_940980.4:p.(Asn551Lys)	NC_000012.11:g.40657700C>G	(Likely) benign	2 labs	c360e77ff7
5:36962301 NIPBL G>A	5	36962301	36962301	G	A	NIPBL	c.535G>A	NM_015384.4	NP_056199.2:p.(Ala179Thr)	NC_000005.9:g.36962301G>A	(Likely) benign	2 labs	c37046ebfd
1:94473845 ABCA4 T>C	1	94473845	94473845	T	C	ABCA4	c.5844A>G	NM_000350.3	NP_000341.2:p.(Pro1948=)	NC_000001.10:g.94473845T>C	(Likely) benign	3 labs	c382cac910
18:7023349 LAMA1 G>A	18	7023349	7023349	G	A	LAMA1	c.2515C>T	NM_005559.3	NP_005550.2:p.(Pro839Ser)	NC_000018.9:g.7023349G>A	VUS	2 labs	c38069a511
1:103345381 COL11A1 G>A	1	103345381	103345381	G	A	COL11A1	c.5168C>T	NM_080629.2	NP_542196.2:p.(Thr1723Ile)	NC_000001.10:g.103345381G>A	VUS	2 labs	c381a3b669
18:6978321 LAMA1 C>T	18	6978321	6978321	C	T	LAMA1	c.6064G>A	NM_005559.4	NP_005550.2:p.(Ala2022Thr)	NC_000018.9:g.6978321C>T	VUS	2 labs	c3895e6bd4
13:32914766 BRCA2 CTT>C	13	32914766	32914768	CTT	C	BRCA2	c.6275_6276del	NM_000059.4	NP_000050.3:p.(Leu2092ProfsTer7)	NC_000013.10:g.32914767_32914768del	(Likely) pathogenic	5 labs	c38b295863
1:120539936 NOTCH2 C>T	1	120539936	120539936	C	T	NOTCH2	c.435G>A	NM_024408.3	NP_077719.2:p.(Thr145=)	NC_000001.10:g.120539936C>T	(Likely) benign	3 labs	c38ba6c5c5
10:50679111 ERCC6 G>A	10	50679111	50679111	G	A	ERCC6	c.2980C>T	NM_000124.4	NP_000115.1:p.(Arg994Trp)	NC_000010.10:g.50679111G>A	VUS	2 labs	c39c785e5b
7:103301928 RELN C>G	7	103301928	103301928	C	G	RELN	c.1336G>C	NM_005045.4	NP_005036.2:p.(Glu446Gln)	NC_000007.13:g.103301928C>G	VUS	2 labs	c3a13e0f75
17:17127471 FLCN G>A	17	17127471	17127471	G	A	FLCN	c.397-14C>T	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17127471G>A	(Likely) benign	3 labs	c3a564d709
12:52056696 SCN8A G>A	12	52056696	52056696	G	A	SCN8A	c.95G>A	NM_001330260.1	NP_001317189.1:p.(Ser32Asn)	NC_000012.11:g.52056696G>A	(Likely) benign	2 labs	c3a64e2a5b
5:433967 AHRR G>A	5	433967	433967	G	A	AHRR	c.1179-1G>A	NM_020731.4	NP_065782.2:p.?	NC_000005.9:g.433967G>A	VUS	2 labs	c3a90fdd3e
16:50745945 NOD2 G>A	16	50745945	50745945	G	A	NOD2	c.2123G>A	NM_022162.1	NP_071445.1:p.(Arg708His)	NC_000016.9:g.50745945G>A	(Likely) benign	2 labs	c3adfae124
7:117188693 CFTR AG>A	7	117188693	117188696	AG	A	CFTR	c.1211del	NM_000492.4	NP_000483.3:p.(Gly404AspfsTer38)	NC_000007.13:g.117188696del	(Likely) pathogenic	3 labs	c3aef1d914
2:179590390 TTN G>C	2	179590390	179590390	G	C	TTN	c.20555-14C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179590390G>C	(Likely) benign	2 labs	c3b914375a
20:43249032 ADA G>A	20	43249032	43249032	G	A	ADA	c.986C>T	NM_000022.2	NP_000013.2:p.(Ala329Val)	NC_000020.10:g.43249032G>A	(Likely) pathogenic	2 labs	c3bd5b2a01
16:2153858 PKD1 G>T	16	2153858	2153858	G	T	PKD1	c.8200C>A	NM_001009944.2	NP_001009944.2:p.(Pro2734Thr)	NC_000016.9:g.2153858G>T	(Likely) benign	2 labs	c3bee21088
12:124209332 ATP6V0A2 T>C	12	124209332	124209332	T	C	ATP6V0A2	c.426T>C	NM_012463.3	NP_036595.2:p.(Asn142=)	NC_000012.11:g.124209332T>C	(Likely) benign	2 labs	c3c34e3683
19:1622125 TCF3 C>T	19	1622125	1622125	C	T	TCF3	c.750G>A	NM_003200.5	NP_003191.1:p.(Pro250=)	NC_000019.9:g.1622125C>T	(Likely) benign	2 labs	c3c5ee8f19
X:153136290 L1CAM T>G	X	153136290	153136290	T	G	L1CAM	c.649A>C	NM_000425.5	NP_000416.1:p.(Arg217=)	NC_000023.10:g.153136290T>G	(Likely) benign	2 labs	c3c9b98aa8
X:55035659 ALAS2 G>A	X	55035659	55035659	G	A	ALAS2	c.1718C>T	NM_000032.5	NP_000023.2:p.(Ser573Phe)	NC_000023.10:g.55035659G>A	(Likely) benign	2 labs	c3d6881968
2:179495820 TTN A>C	2	179495820	179495820	A	C	TTN	c.43955T>G	NM_001267550.1	NP_001254479.1:p.(Ile14652Ser)	NC_000002.11:g.179495820A>C	VUS	2 labs	c3dbfc7581
15:33955850 RYR3 G>A	15	33955850	33955850	G	A	RYR3	c.5531G>A	NM_001036.4	NP_001027.3:p.(Arg1844His)	NC_000015.9:g.33955850G>A	VUS	2 labs	c3dec791ce
16:1639658 IFT140 C>T	16	1639658	1639658	C	T	IFT140	c.758G>A	NM_014714.4	NP_055529.2:p.(Arg253Gln)	NC_000016.9:g.1639658C>T	(Likely) benign	3 labs	c3d7bfe4c7
1:226127443 LEFTY2 G>C	1	226127443	226127443	G	C	LEFTY2	c.497+13C>G	NM_003240.4	NP_003231.2:p.?	NC_000001.10:g.226127443G>C	(Likely) benign	3 labs	c3e6864ca9
5:32074360 PDZD2 G>T	5	32074360	32074360	G	T	PDZD2	c.3148G>T	NM_178140.3	NP_835260.2:p.(Val1050Leu)	NC_000005.9:g.32074360G>T	(Likely) benign	2 labs	c3ed401217
10:102762677 LZTS2 A>C	10	102762677	102762677	A	C	LZTS2	c.382A>C	NM_032429.3	NP_115805.1:p.(Ile128Leu)	NC_000010.10:g.102762677A>C	(Likely) benign	2 labs	c3ee862f72
9:140349707 NSMF C>T	9	140349707	140349707	C	T	NSMF	c.763G>A	NM_001130969.1	NP_001124441.1:p.(Ala255Thr)	NC_000009.11:g.140349707C>T	VUS	2 labs	c3fd59ae7c
16:14693755 PARN A>G	16	14693755	14693755	A	G	PARN	c.840+6T>C	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14693755A>G	(Likely) benign	2 labs	c4040529ac
19:36236909 PSENEN G>C	19	36236909	36236909	G	C	PSENEN	c.61+17G>C	NM_172341.4	NP_758844.1:p.?	NC_000019.9:g.36236909G>C	(Likely) benign	3 labs	c40b00261d
13:32954310 BRCA2 T>A	13	32954310	32954310	T	A	BRCA2	c.9256+28T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954310T>A	(Likely) benign	2 labs	c40cd4295c
10:96058154 PLCE1 G>A	10	96058154	96058154	G	A	PLCE1	c.5186G>A	NM_016341.3	NP_057425.3:p.(Arg1729Gln)	NC_000010.10:g.96058154G>A	VUS	2 labs	c4115a660b
X:37655374 CYBB C>A	X	37655374	37655374	C	A	CYBB	c.654C>A	NM_000397.3	NP_000388.2:p.(Gly218=)	NC_000023.10:g.37655374C>A	(Likely) benign	2 labs	c4134697b1
6:43487911 POLR1C G>A	6	43487911	43487911	G	A	POLR1C	c.490G>A	NM_001363658.1	NP_001350587.1:p.(Val164Met)	NC_000006.11:g.43487911G>A	(Likely) benign	2 labs	c4164521be
16:88782644 PIEZO1 T>C	16	88782644	88782644	T	C	PIEZO1	c.7091A>G	NM_001142864.4	NP_001136336.2:p.(Asn2364Ser)	NC_000016.9:g.88782644T>C	(Likely) benign	2 labs	c4170b794b
1:53679096 CPT2 T>C	1	53679096	53679096	T	C	CPT2	c.1806T>C	NM_000098.2	NP_000089.1:p.(Phe602=)	NC_000001.10:g.53679096T>C	(Likely) benign	3 labs	c417c47cf5
15:89876827 POLGARF TTGC>T	15	89876827	89876860	TTGC	T	POLGARF	c.211_213del	NM_001430120.1	NP_001417049.1:p.(Ala71del)	NC_000015.9:g.89876858_89876860del	(Likely) benign	2 labs	c41ce75351
21:34640722 IL10RB G>A	21	34640722	34640722	G	A	IL10RB				NC_000021.8:g.34640722G>A	(Likely) benign	2 labs	c41dfcebf0
X:53222633 KDM5C G>A	X	53222633	53222633	G	A	KDM5C	c.4303C>T	NM_004187.3	NP_004178.2:p.(Arg1435Cys)	NC_000023.10:g.53222633G>A	(Likely) benign	2 labs	c421cd5be4
17:6337248 AIPL1 G>A	17	6337248	6337248	G	A	AIPL1	c.267C>T	NM_014336.5	NP_055151.3:p.(Cys89=)	NC_000017.10:g.6337248G>A	(Likely) benign	2 labs	c4230ef3ad
18:21141343 NPC1 G>A	18	21141343	21141343	G	A	NPC1	c.612C>T	NM_000271.5	NP_000262.2:p.(Thr204=)	NC_000018.9:g.21141343G>A	(Likely) benign	3 labs	c42ae32136
2:152348631 NEB T>C	2	152348631	152348631	T	C	NEB	c.25143A>G	NM_001271208.1	NP_001258137.1:p.(Gln8381=)	NC_000002.11:g.152348631T>C	(Likely) benign	2 labs	c42f5eba1f
16:89347271 ANKRD11 G>A	16	89347271	89347271	G	A	ANKRD11	c.5679C>T	NM_001256182.1	NP_001243111.1:p.(Ser1893=)	NC_000016.9:g.89347271G>A	(Likely) benign	2 labs	c434eb283a
9:140968509 CACNA1B C>T	9	140968509	140968509	C	T	CACNA1B	c.4848C>T	NM_000718.4	NP_000709.1:p.(Ile1616=)	NC_000009.11:g.140968509C>T	(Likely) benign	2 labs	c43f808266
11:2186459 TH C>G	11	2186459	2186459	C	G	TH	c.1427+3G>C	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2186459C>G	VUS	2 labs	c4356cabd8
X:153760472 G6PD C>T	X	153760472	153760472	C	T	G6PD	c.1478G>A	NM_000402.4	NP_000393.4:p.(Arg493His)	NC_000023.10:g.153760472C>T	(Likely) pathogenic	2 labs	c43aa41fbd
17:39912454 JUP T>C	17	39912454	39912454	T	C	JUP	c.2059A>G	NM_002230.4	NP_002221.1:p.(Ile687Val)	NC_000017.10:g.39912454T>C	(Likely) benign	2 labs	c43edda9b1
X:152858120 CCNQ G>A	X	152858120	152858120	G	A	CCNQ	c.501C>T	NM_152274.4	NP_689487.2:p.(Ala167=)	NC_000023.10:g.152858120G>A	(Likely) benign	2 labs	c44ac0b60e
17:8141399 CTC1 C>T	17	8141399	8141399	C	T	CTC1	c.597G>A	NM_025099.6	NP_079375.3:p.(Thr199=)	NC_000017.10:g.8141399C>T	(Likely) benign	2 labs	c44beabb7f
7:75615280 POR G>A	7	75615280	75615280	G	A	POR	c.1709G>A	NM_000941.2	NP_000932.3:p.(Arg570His)	NC_000007.13:g.75615280G>A	VUS	2 labs	c45db5a251
12:42866205 PRICKLE1 C>T	12	42866205	42866205	C	T	PRICKLE1	c.114G>A	NM_153026.2	NP_694571.2:p.(Pro38=)	NC_000012.11:g.42866205C>T	(Likely) benign	2 labs	c45fb4bc29
13:32910617 BRCA2 C>G	13	32910617	32910617	C	G	BRCA2	c.2125C>G	NM_000059.3	NP_000050.2:p.(Leu709Val)	NC_000013.10:g.32910617C>G	(Likely) benign	2 labs	c46a337c93
4:187003464 TLR3 C>A	4	187003464	187003464	C	A	TLR3	c.634-10C>A	NM_003265.2	NP_003256.1:p.?	NC_000004.11:g.187003464C>A	(Likely) benign	2 labs	c472c03f3c
1:216373337 USH2A G>A	1	216373337	216373337	G	A	USH2A	c.3443C>T	NM_206933.2	NP_996816.2:p.(Pro1148Leu)	NC_000001.10:g.216373337G>A	VUS	2 labs	c4779a53e5
14:102431024 DYNC1H1 A>G	14	102431024	102431024	A	G	DYNC1H1	c.-5A>G	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102431024A>G	(Likely) benign	2 labs	c46c1494f3
2:219920412 IHH A>G	2	219920412	219920412	A	G	IHH	c.753T>C	NM_002181.4	NP_002172.2:p.(Pro251=)	NC_000002.11:g.219920412A>G	(Likely) benign	2 labs	c47ed24221
20:31022480 ASXL1 C>T	20	31022480	31022480	C	T	ASXL1	c.1965C>T	NM_015338.5	NP_056153.2:p.(Thr655=)	NC_000020.10:g.31022480C>T	(Likely) benign	2 labs	c47afea44c
13:102568918 FGF14 G>A	13	102568918	102568918	G	A	FGF14	c.78C>T	NM_004115.3	NP_004106.1:p.(Ala26=)	NC_000013.10:g.102568918G>A	(Likely) benign	2 labs	c48d057499
11:2797186 KCNQ1 G>A	11	2797186	2797186	G	A	KCNQ1	c.1591-4G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2797186G>A	(Likely) benign	3 labs	c48c46c2ce
20:57428474 GNAS G>A	20	57428474	57428474	G	A	GNAS	c.154G>A	NM_080425.4	NP_536350.2:p.(Glu52Lys)	NC_000020.10:g.57428474G>A	VUS	3 labs	c49525fafb
20:50405502 SALL4 C>G	20	50405502	50405502	C	G	SALL4	c.2640G>C	NM_020436.3	NP_065169.1:p.(Ser880=)	NC_000020.10:g.50405502C>G	(Likely) benign	2 labs	c4a1395e4d
10:72358722 PRF1 T>C	10	72358722	72358722	T	C	PRF1	c.755A>G	NM_001083116.1	NP_001076585.1:p.(Asn252Ser)	NC_000010.10:g.72358722T>C	(Likely) benign	3 labs	c4a15c07b4
9:137642653 COL5A1 C>T	9	137642653	137642653	C	T	COL5A1	c.1587C>T	NM_000093.5	NP_000084.3:p.(Gly529=)	NC_000009.11:g.137642653C>T	(Likely) benign	2 labs	c4a0dcd1aa
6:7570766 DSP A>G	6	7570766	7570766	A	G	DSP	c.1671A>G	NM_004415.4	NP_004406.2:p.(Ile557Met)	NC_000006.11:g.7570766A>G	VUS	3 labs	c4af56c20a
14:68249605 ZFYVE26 C>T	14	68249605	68249605	C	T	ZFYVE26	c.4264G>A	NM_015346.3	NP_056161.2:p.(Val1422Met)	NC_000014.8:g.68249605C>T	(Likely) benign	2 labs	c4a722704f
2:179410285 TTN CTCT>C	2	179410285	179410294	CTCT	C	TTN	c.95549_95551del	NM_001267550.2	NP_001254479.2:p.(Lys31850del)	NC_000002.11:g.179410292_179410294del	VUS	2 labs	c4b31062da
14:23894048 MYH7 C>T	14	23894048	23894048	C	T	MYH7	c.2609G>A	NM_000257.4	NP_000248.2:p.(Arg870His)	NC_000014.8:g.23894048C>T	(Likely) pathogenic	3 labs	c4bc5e542a
X:100652934 GLA T>C	X	100652934	100652934	T	C	GLA	c.1153A>G	NM_000169.3	NP_000160.1:p.(Thr385Ala)	NC_000023.10:g.100652934T>C	(Likely) benign	4 labs	c4c45aca79
X:107844691 COL4A5 A>G	X	107844691	107844691	A	G	COL4A5	c.2017A>G	NM_033380.2	NP_203699.1:p.(Arg673Gly)	NC_000023.10:g.107844691A>G	(Likely) benign	2 labs	c4d0768ed8
3:123166876 ADCY5 G>A	3	123166876	123166876	G	A	ADCY5	c.517C>T	NM_183357.2	NP_899200.1:p.(Leu173=)	NC_000003.11:g.123166876G>A	(Likely) benign	2 labs	c4d1e34e8e
12:7343153 PEX5 A>G	12	7343153	7343153	A	G	PEX5	c.180A>G	NM_001131023.1	NP_001124495.1:p.(Ala60=)	NC_000012.11:g.7343153A>G	(Likely) benign	2 labs	c4d48ac2a6
14:68252919 ZFYVE26 A>G	14	68252919	68252919	A	G	ZFYVE26	c.3051T>C	NM_015346.3	NP_056161.2:p.(Ala1017=)	NC_000014.8:g.68252919A>G	(Likely) benign	2 labs	c4d9f26098
13:111077346 COL4A2 T>C	13	111077346	111077346	T	C	COL4A2	c.360+2T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077346T>C	(Likely) pathogenic	3 labs	c4e02ee1e7
8:126062905 WASHC5 C>T	8	126062905	126062905	C	T	WASHC5	c.2100G>A	NM_014846.3	NP_055661.3:p.(Val700=)	NC_000008.10:g.126062905C>T	(Likely) benign	3 labs	c4e26cb478
18:77464913 CTDP1 C>T	18	77464913	77464913	C	T	CTDP1	c.768C>T	NM_004715.4	NP_004706.3:p.(Ile256=)	NC_000018.9:g.77464913C>T	(Likely) benign	2 labs	c4e2fcc64c
12:94806191 CEP83 C>T	12	94806191	94806191	C	T	CEP83	c.76G>A	NM_016122.2	NP_057206.2:p.(Gly26Ser)	NC_000012.11:g.94806191C>T	(Likely) benign	2 labs	c4e79acc3d
17:43367998 MAP3K14 G>A	17	43367998	43367998	G	A	MAP3K14	c.114C>T	NM_003954.5	NP_003945.2:p.(Ser38=)	NC_000017.10:g.43367998G>A	(Likely) benign	2 labs	c4ea9f74fe
12:1995494 CACNA2D4 C>T	12	1995494	1995494	C	T	CACNA2D4	c.888G>A	NM_172364.5	NP_758952.4:p.(Val296=)	NC_000012.11:g.1995494C>T	(Likely) benign	2 labs	c4ef121e1d
9:79968361 VPS13A A>G	9	79968361	79968361	A	G	VPS13A	c.7456A>G	NM_033305.3	NP_150648.2:p.(Ile2486Val)	NC_000009.11:g.79968361A>G	(Likely) benign	2 labs	c4f661430f
1:43888172 SZT2 C>T	1	43888172	43888172	C	T	SZT2	c.1791C>T	NM_015284.3	NP_056099.3:p.(His597=)	NC_000001.10:g.43888172C>T	(Likely) benign	2 labs	c4fc37eca3
15:67479870 SMAD3 A>C	15	67479870	67479870	A	C	SMAD3	c.1154+23A>C	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67479870A>C	(Likely) benign	2 labs	c4fe0b51aa
21:34925936 SON A>G	21	34925936	34925936	A	G	SON	c.4399A>G	NM_138927.2	NP_620305.2:p.(Ile1467Val)	NC_000021.8:g.34925936A>G	(Likely) benign	2 labs	c50f0c8f51
9:32986032 APTX AAAAAAAAACAAAAAAAAAAAC>A	9	32986032	32986061	AAAAAAAAACAAAAAAAAAAAC	A	APTX	c.484-25_484-5del	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986041_32986061del	(Likely) benign	3 labs	c50cfdc57b
2:179408773 TTN C>T	2	179408773	179408773	C	T	TTN	c.96098G>A	NM_001267550.2	NP_001254479.2:p.(Arg32033His)	NC_000002.11:g.179408773C>T	(Likely) benign	2 labs	c50ec3ebdd
X:107929353 COL4A5 C>G	X	107929353	107929353	C	G	COL4A5	c.4309C>G	NM_033380.2	NP_203699.1:p.(Gln1437Glu)	NC_000023.10:g.107929353C>G	(Likely) benign	2 labs	c51205563d
X:47466549 SYN1 T>C	X	47466549	47466549	T	C	SYN1	c.426A>G	NM_006950.3	NP_008881.2:p.(Lys142=)	NC_000023.10:g.47466549T>C	(Likely) benign	2 labs	c51208d796
8:6500544 MCPH1 C>T	8	6500544	6500544	C	T	MCPH1	c.2482C>T	NM_024596.5	NP_078872.3:p.(Pro828Ser)	NC_000008.10:g.6500544C>T	(Likely) benign	3 labs	c513bf9494
X:148068966 AFF2 C>T	X	148068966	148068966	C	T	AFF2	c.3693C>T	NM_002025.3	NP_002016.2:p.(Gly1231=)	NC_000023.10:g.148068966C>T	(Likely) benign	2 labs	c5207e2785
17:18071038 MYO15A G>A	17	18071038	18071038	G	A	MYO15A	c.10082+1G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18071038G>A	(Likely) pathogenic	2 labs	c523b0f82c
1:183559372 NCF2 G>A	1	183559372	183559372	G	A	NCF2	c.93C>T	NM_000433.3	NP_000424.2:p.(Ala31=)	NC_000001.10:g.183559372G>A	(Likely) benign	2 labs	c525472353
8:6357381 MCPH1 G>A	8	6357381	6357381	G	A	MCPH1	c.2145G>A	NM_024596.5	NP_078872.3:p.(Trp715Ter)	NC_000008.10:g.6357381G>A	(Likely) pathogenic	2 labs	c52cb90f4e
1:112525085 KCND3 G>A	1	112525085	112525085	G	A	KCND3	c.264C>T	NM_004980.5	NP_004971.2:p.(Pro88=)	NC_000001.10:g.112525085G>A	(Likely) benign	2 labs	c5299d10d8
13:50125461 RCBTB1 C>A	13	50125461	50125461	C	A	RCBTB1	c.275+1G>T	NM_001352506.2	NP_001339435.1:p.?	NC_000013.10:g.50125461C>A	(Likely) pathogenic	2 labs	c53077f5c3
2:217285060 SMARCAL1 C>G	2	217285060	217285060	C	G	SMARCAL1	c.901C>G	NM_014140.3	NP_054859.2:p.(Pro301Ala)	NC_000002.11:g.217285060C>G	(Likely) benign	2 labs	c53c4d7779
3:186974465 MASP1 T>C	3	186974465	186974465	T	C	MASP1	c.731A>G	NM_001879.5	NP_001870.3:p.(Tyr244Cys)	NC_000003.11:g.186974465T>C	VUS	2 labs	c53ca6cd21
1:65860660 DNAJC6 T>C	1	65860660	65860660	T	C	DNAJC6	c.1983T>C	NM_001256864.2	NP_001243793.1:p.(Ser661=)	NC_000001.10:g.65860660T>C	(Likely) benign	2 labs	c53973f12b
17:10533050 MYH3 T>C	17	10533050	10533050	T	C	MYH3	c.5660A>G	NM_002470.3	NP_002461.2:p.(Asp1887Gly)	NC_000017.10:g.10533050T>C	VUS	2 labs	c5477767ce
19:50365147 PNKP AC>A	19	50365147	50365148	AC	A	PNKP	c.1189-10del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365148del	(Likely) benign	2 labs	c54d2afb71
3:129251132 RHO A>G	3	129251132	129251132	A	G	RHO	c.569A>G	NM_000539.3	NP_000530.1:p.(Asp190Gly)	NC_000003.11:g.129251132A>G	(Likely) pathogenic	2 labs	c55d52b497
13:32914890 BRCA2 CAAA>C	13	32914890	32914893	CAAA	C	BRCA2	c.6399_6401del	NM_000059.4	NP_000050.3:p.(Asn2135del)	NC_000013.10:g.32914891_32914893del	VUS	2 labs	c56315700d
X:10535489 MID1 G>A	X	10535489	10535489	G	A	MID1	c.99C>T	NM_001347733.2	NP_001334662.1:p.(Cys33=)	NC_000023.10:g.10535489G>A	(Likely) benign	2 labs	c563805909
9:138656975 KCNT1 C>T	9	138656975	138656975	C	T	KCNT1	c.1134C>T	NM_020822.2	NP_065873.2:p.(Val378=)	NC_000009.11:g.138656975C>T	(Likely) benign	2 labs	c57456794f
22:41903903 ACO2 C>T	22	41903903	41903903	C	T	ACO2	c.282C>T	NM_001098.3	NP_001089.1:p.(Asp94=)	NC_000022.10:g.41903903C>T	(Likely) benign	2 labs	c57a161043
5:13736021 DNAH5 G>A	5	13736021	13736021	G	A	DNAH5	c.11476C>T	NM_001369.2	NP_001360.1:p.(Leu3826Phe)	NC_000005.9:g.13736021G>A	VUS	2 labs	c57f831163
14:102891495 TECPR2 G>A	14	102891495	102891495	G	A	TECPR2	c.818G>A	NM_014844.4	NP_055659.2:p.(Arg273His)	NC_000014.8:g.102891495G>A	VUS	2 labs	c59215089b
16:5134779 ALG1 C>A	16	5134779	5134779	C	A	ALG1	c.1292C>A	NM_019109.4	NP_061982.3:p.(Ala431Glu)	NC_000016.9:g.5134779C>A	(Likely) benign	3 labs	c596f6f908
11:103029516 DYNC2H1 A>G	11	103029516	103029516	A	G	DYNC2H1	c.4238A>G	NM_001080463.2	NP_001073932.1:p.(Lys1413Arg)	NC_000011.9:g.103029516A>G	(Likely) benign	3 labs	c5a4d3abbb
9:140094928 TPRN AGCCGCGCCCCC>A	9	140094928	140094958	AGCCGCGCCCCC	A	TPRN	c.225_235del	NM_001128228.3	NP_001121700.2:p.(Gly76AlafsTer150)	NC_000009.11:g.140094948_140094958del	(Likely) pathogenic	2 labs	c5a350fc58
6:51915066 PKHD1 C>A	6	51915066	51915066	C	A	PKHD1	c.2168G>T	NM_138694.3	NP_619639.3:p.(Arg723Leu)	NC_000006.11:g.51915066C>A	(Likely) benign	3 labs	c5a95c6cc1
20:2413163 TGM6 G>C	20	2413163	2413163	G	C	TGM6	c.1995G>C	NM_198994.2	NP_945345.2:p.(Arg665Ser)	NC_000020.10:g.2413163G>C	(Likely) benign	2 labs	c5b3e3df6e
1:237664108 RYR2 G>T	1	237664108	237664108	G	T	RYR2	c.2301G>T	NM_001035.3	NP_001026.2:p.(Ser767=)	NC_000001.10:g.237664108G>T	(Likely) benign	4 labs	c5a66f2102
17:59557239 TBX4 C>T	17	59557239	59557239	C	T	TBX4	c.703-3C>T	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59557239C>T	(Likely) benign	2 labs	c5c03021f0
19:12918248 RNASEH2A G>T	19	12918248	12918248	G	T	RNASEH2A	c.339G>T	NM_006397.2	NP_006388.2:p.(Leu113=)	NC_000019.9:g.12918248G>T	(Likely) benign	2 labs	c5c09861af
2:74596321 DCTN1 T>C	2	74596321	74596321	T	C	DCTN1	c.1605A>G	NM_004082.5	NP_004073.2:p.(Thr535=)	NC_000002.11:g.74596321T>C	(Likely) benign	2 labs	c5bf6dbf34
6:33146760 COL11A2 C>G	6	33146760	33146760	C	G	COL11A2	c.1612-10G>C	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33146760C>G	(Likely) benign	2 labs	c5c55eea3a
15:23889348 MAGEL2 T>C	15	23889348	23889348	T	C	MAGEL2	c.3542A>G	NM_019066.4	NP_061939.3:p.(Glu1181Gly)	NC_000015.9:g.23889348T>C	VUS	2 labs	c5c912e7ab
2:211541864 CPS1 T>A	2	211541864	211541864	T	A	CPS1	c.4404+4T>A	NM_001875.4	NP_001866.2:p.?	NC_000002.11:g.211541864T>A	(Likely) benign	2 labs	c5cd72d2d8
17:18027846 MYO15A G>A	17	18027846	18027846	G	A	MYO15A	c.3659G>A	NM_016239.3	NP_057323.3:p.(Gly1220Glu)	NC_000017.10:g.18027846G>A	(Likely) benign	2 labs	c5ce4795a3
1:40767520 COL9A2 C>T	1	40767520	40767520	C	T	COL9A2	c.1834G>A	NM_001852.4	NP_001843.1:p.(Gly612Arg)	NC_000001.10:g.40767520C>T	VUS	2 labs	c5e191e1ed
11:66475741 SPTBN2 G>A	11	66475741	66475741	G	A	SPTBN2	c.1221C>T	NM_006946.3	NP_008877.1:p.(His407=)	NC_000011.9:g.66475741G>A	(Likely) benign	2 labs	c5e1e8a9d1
15:48797192 FBN1 C>T	15	48797192	48797192	C	T	FBN1	c.1960+30G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48797192C>T	(Likely) benign	2 labs	c5f9b27443
12:6438771 TNFRSF1A G>A	12	6438771	6438771	G	A	TNFRSF1A	c.1075C>T	NM_001065.3	NP_001056.1:p.(Leu359=)	NC_000012.11:g.6438771G>A	(Likely) benign	2 labs	c5f9cc3bcd
10:16873308 CUBN T>C	10	16873308	16873308	T	C	CUBN	c.10471A>G	NM_001081.4	NP_001072.2:p.(Ser3491Gly)	NC_000010.10:g.16873308T>C	VUS	2 labs	c5ee72de5e
3:37083740 MLH1 A>G	3	37083740	37083740	A	G	MLH1	c.1668-19A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37083740A>G	(Likely) benign	5 labs	c5fa8734eb
17:41243546 BRCA1 A>G	17	41243546	41243546	A	G	BRCA1	c.4002T>C	NM_007294.3	NP_009225.1:p.(Gly1334=)	NC_000017.10:g.41243546A>G	(Likely) benign	2 labs	c608f55248
21:27462250 APP C>T	21	27462250	27462250	C	T	APP	c.355+9G>A	NM_000484.3	NP_000475.1:p.?	NC_000021.8:g.27462250C>T	(Likely) benign	2 labs	c61a7ecc01
2:179475933 TTN G>T	2	179475933	179475933	G	T	TTN	c.50923C>A	NM_001267550.2	NP_001254479.2:p.(Pro16975Thr)	NC_000002.11:g.179475933G>T	VUS	3 labs	c617da9cce
4:88584326 DMP1 A>G	4	88584326	88584326	A	G	DMP1	c.1396A>G	NM_004407.3	NP_004398.1:p.(Ser466Gly)	NC_000004.11:g.88584326A>G	(Likely) benign	2 labs	c617a09de4
6:70964895 COL9A1 A>T	6	70964895	70964895	A	T	COL9A1	c.1569T>A	NM_001851.6	NP_001842.3:p.(Gly523=)	NC_000006.11:g.70964895A>T	(Likely) benign	2 labs	c61533787d
5:147504324 SPINK5 G>A	5	147504324	147504324	G	A	SPINK5	c.2667-4G>A	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147504324G>A	(Likely) benign	3 labs	c61d32d320
X:99661871 PCDH19 G>A	X	99661871	99661871	G	A	PCDH19	c.1725C>T	NM_001184880.1	NP_001171809.1:p.(Val575=)	NC_000023.10:g.99661871G>A	(Likely) benign	2 labs	c61bf2ab6f
13:32900632 BRCA2 C>G	13	32900632	32900632	C	G	BRCA2	c.517-4C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900632C>G	(Likely) benign	2 labs	c6249fdb2f
5:172662026 NKX2-5 C>G	5	172662026	172662026	C	G	NKX2-5	c.61G>C	NM_004387.3	NP_004378.1:p.(Glu21Gln)	NC_000005.9:g.172662026C>G	(Likely) benign	3 labs	c62522d1a7
22:17662900 ADA2 C>A	22	17662900	17662900	C	A	ADA2	c.1252G>T	NM_001282226.1	NP_001269155.1:p.(Val418Leu)	NC_000022.10:g.17662900C>A	VUS	2 labs	c628dffbe3
3:193377266 OPA1 T>TC	3	193377266	193377267	T	TC	OPA1	c.2441-4dup	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193377267dup	(Likely) benign	3 labs	c62837f634
16:2130384 TSC2 G>A	16	2130384	2130384	G	A	TSC2	c.3610+6G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2130384G>A	(Likely) benign	2 labs	c62dbbd69f
8:10470691 RP1L1 C>G	8	10470691	10470691	C	G	RP1L1	c.917G>C	NM_178857.6	NP_849188.4:p.(Gly306Ala)	NC_000008.10:g.10470691C>G	(Likely) benign	2 labs	c62f162f8e
6:138200216 TNFAIP3 C>T	6	138200216	138200216	C	T	TNFAIP3	c.1634C>T	NM_006290.4	NP_006281.1:p.(Ala545Val)	NC_000006.11:g.138200216C>T	(Likely) benign	2 labs	c639718f1c
2:179528068 TTN C>A	2	179528068	179528068	C	A	TTN	c.36625G>T	NM_001267550.1	NP_001254479.1:p.(Val12209Leu)	NC_000002.11:g.179528068C>A	(Likely) benign	3 labs	c63d69baad
10:112541538 RBM20 G>A	10	112541538	112541538	G	A	RBM20	c.1171G>A	NM_001134363.3	NP_001127835.2:p.(Val391Met)	NC_000010.10:g.112541538G>A	(Likely) benign	2 labs	c645eda6d9
13:39263913 FREM2 G>A	13	39263913	39263913	G	A	FREM2	c.2432G>A	NM_207361.5	NP_997244.4:p.(Gly811Glu)	NC_000013.10:g.39263913G>A	VUS	3 labs	c6452f9ac6
2:238296649 COL6A3 C>G	2	238296649	238296649	C	G	COL6A3	c.888G>C	NM_004369.3	NP_004360.2:p.(Leu296Phe)	NC_000002.11:g.238296649C>G	VUS	2 labs	c649449cec
1:27099883 ARID1A C>T	1	27099883	27099883	C	T	ARID1A	c.3762C>T	NM_006015.4	NP_006006.3:p.(Gly1254=)	NC_000001.10:g.27099883C>T	(Likely) benign	2 labs	c64abc5134
3:37038124 MLH1 C>T	3	37038124	37038124	C	T	MLH1	c.131C>T	NM_000249.3	NP_000240.1:p.(Ser44Phe)	NC_000003.11:g.37038124C>T	(Likely) pathogenic	3 labs	c65ee6d8f5
21:27284167 APP C>T	21	27284167	27284167	C	T	APP	c.1795G>A	NM_000484.3	NP_000475.1:p.(Glu599Lys)	NC_000021.8:g.27284167C>T	(Likely) benign	2 labs	c66b32401a
7:107323779 SLC26A4 A>C	7	107323779	107323779	A	C	SLC26A4	c.898A>C	NM_000441.1	NP_000432.1:p.(Ile300Leu)	NC_000007.13:g.107323779A>C	(Likely) benign	2 labs	c67a2e670a
14:75470349 EIF2B2 C>T	14	75470349	75470349	C	T	EIF2B2	c.380C>T	NM_014239.3	NP_055054.1:p.(Ala127Val)	NC_000014.8:g.75470349C>T	(Likely) benign	2 labs	c67cbfbc70
14:23856861 MYH6 C>T	14	23856861	23856861	C	T	MYH6	c.4527G>A	NM_002471.4	NP_002462.2:p.(Glu1509=)	NC_000014.8:g.23856861C>T	(Likely) benign	5 labs	c68b9f7701
1:227171498 COQ8A G>A	1	227171498	227171498	G	A	COQ8A	c.1199G>A	NM_020247.4	NP_064632.2:p.(Arg400Gln)	NC_000001.10:g.227171498G>A	VUS	2 labs	c695d1205b
5:37183297 CPLANE1 T>G	5	37183297	37183297	T	G	CPLANE1	c.4986A>C	NM_023073.4	NP_075561.3:p.(Gln1662His)	NC_000005.9:g.37183297T>G	(Likely) benign	2 labs	c68deed46e
19:10249270 DNMT1 G>A	19	10249270	10249270	G	A	DNMT1	c.3960C>T	NM_001130823.3	NP_001124295.1:p.(Tyr1320=)	NC_000019.9:g.10249270G>A	(Likely) benign	3 labs	c6981ee229
13:103328638 TPP2 C>T	13	103328638	103328638	C	T	TPP2	c.3541-8C>T	NM_003291.4	NP_003282.2:p.?	NC_000013.10:g.103328638C>T	(Likely) benign	2 labs	c6a396f210
8:133984064 TG G>A	8	133984064	133984064	G	A	TG	c.6001G>A	NM_003235.5	NP_003226.4:p.(Asp2001Asn)	NC_000008.10:g.133984064G>A	VUS	3 labs	c6a92d177d
1:152279420 FLG A>G	1	152279420	152279420	A	G	FLG	c.7942T>C	NM_002016.1	NP_002007.1:p.(Ser2648Pro)	NC_000001.10:g.152279420A>G	(Likely) benign	2 labs	c6c3d7d75b
22:37524640 IL2RB G>A	22	37524640	37524640	G	A	IL2RB	c.1152C>T	NM_001346222.1	NP_001333151.1:p.(Tyr384=)	NC_000022.10:g.37524640G>A	(Likely) benign	2 labs	c6c52e5077
19:2127197 AP3D1 C>T	19	2127197	2127197	C	T	AP3D1	c.810G>A	NM_001261826.3	NP_001248755.1:p.(Thr270=)	NC_000019.9:g.2127197C>T	(Likely) benign	2 labs	c6c6bc2114
4:73149182 ADAMTS3 G>A	4	73149182	73149182	G	A	ADAMTS3	c.3289C>T	NM_014243.2	NP_055058.2:p.(Pro1097Ser)	NC_000004.11:g.73149182G>A	(Likely) benign	2 labs	c6d05b7078
11:36614624 RAG2 A>G	11	36614624	36614624	A	G	RAG2	c.1095T>C	NM_001243786.1	NP_001230715.1:p.(Ser365=)	NC_000011.9:g.36614624A>G	(Likely) benign	2 labs	c6e09e46cf
15:73622045 HCN4 C>T	15	73622045	73622045	C	T	HCN4	c.1459G>A	NM_005477.3	NP_005468.1:p.(Val487Met)	NC_000015.9:g.73622045C>T	(Likely) benign	4 labs	c6e15cffab
5:150945843 FAT2 C>T	5	150945843	150945843	C	T	FAT2	c.2650G>A	NM_001447.2	NP_001438.1:p.(Glu884Lys)	NC_000005.9:g.150945843C>T	VUS	2 labs	c6e1ebd01d
7:91842553 KRIT1 C>A	7	91842553	91842553	C	A	KRIT1	c.1981G>T	NM_004912.4	NP_004903.2:p.(Gly661Ter)	NC_000007.13:g.91842553C>A	(Likely) pathogenic	2 labs	c6e5c8340c
1:114380321 PTPN22 C>T	1	114380321	114380321	C	T	PTPN22	c.1701G>A	NM_015967.6	NP_057051.3:p.(Leu567=)	NC_000001.10:g.114380321C>T	(Likely) benign	2 labs	c6eddb289d
5:78181587 ARSB A>G	5	78181587	78181587	A	G	ARSB	c.962T>C	NM_000046.4	NP_000037.2:p.(Leu321Pro)	NC_000005.9:g.78181587A>G	(Likely) pathogenic	2 labs	c6f5bccbf2
2:166866307 SCN1A T>A	2	166866307	166866307	T	A	SCN1A	c.3924A>T	NM_001202435.3	NP_001189364.1:p.(Glu1308Asp)	NC_000002.11:g.166866307T>A	(Likely) benign	4 labs	c6f98c6a88
2:202498112 TMEM237 G>C	2	202498112	202498112	G	C	TMEM237	c.293C>G	NM_152388.4	NP_689601.2:p.(Ser98Cys)	NC_000002.11:g.202498112G>C	VUS	2 labs	c6fca086b4
2:179596617 TTN C>T	2	179596617	179596617	C	T	TTN	c.16985G>A	NM_001267550.1	NP_001254479.1:p.(Gly5662Asp)	NC_000002.11:g.179596617C>T	VUS	2 labs	c700028871
11:126162590 TIRAP G>A	11	126162590	126162590	G	A	TIRAP	c.286G>A	NM_001039661.1	NP_001034750.1:p.(Asp96Asn)	NC_000011.9:g.126162590G>A	(Likely) benign	2 labs	c70278eca9
8:41791936 KAT6A G>A	8	41791936	41791936	G	A	KAT6A	c.3802C>T	NM_006766.5	NP_006757.2:p.(Pro1268Ser)	NC_000008.10:g.41791936G>A	(Likely) benign	3 labs	c7033fc4e2
X:107802372 COL4A5 C>T	X	107802372	107802372	C	T	COL4A5	c.220C>T	NM_033380.2	NP_203699.1:p.(Arg74Trp)	NC_000023.10:g.107802372C>T	(Likely) benign	2 labs	c70a423490
22:38508172 PLA2G6 G>C	22	38508172	38508172	G	C	PLA2G6	c.1883C>G	NM_001349867.2	NP_001336796.1:p.(Pro628Arg)	NC_000022.10:g.38508172G>C	(Likely) benign	2 labs	c703de43f5
15:28502335 HERC2 T>C	15	28502335	28502335	T	C	HERC2	c.2389A>G	NM_004667.5	NP_004658.3:p.(Met797Val)	NC_000015.9:g.28502335T>C	(Likely) benign	2 labs	c70e5f1874
20:1961134 PDYN A>G	20	1961134	1961134	A	G	PDYN	c.600T>C	NM_024411.5	NP_077722.1:p.(His200=)	NC_000020.10:g.1961134A>G	(Likely) benign	3 labs	c722c1df6c
3:37035114 MLH1 C>T	3	37035114	37035114	C	T	MLH1	c.76C>T	NM_000249.3	NP_000240.1:p.(Gln26Ter)	NC_000003.11:g.37035114C>T	(Likely) pathogenic	2 labs	c72351b3a4
22:17566001 IL17RA C>T	22	17566001	17566001	C	T	IL17RA	c.20C>T	NM_014339.6	NP_055154.3:p.(Pro7Leu)	NC_000022.10:g.17566001C>T	(Likely) benign	2 labs	c7248f7f29
16:81891951 PLCG2 A>G	16	81891951	81891951	A	G	PLCG2	c.421A>G	NM_002661.5	NP_002652.2:p.(Ile141Val)	NC_000016.9:g.81891951A>G	(Likely) benign	3 labs	c732f713dd
8:145737820 RECQL4 G>A	8	145737820	145737820	G	A	RECQL4	c.3010C>T	NM_004260.3	NP_004251.3:p.(Arg1004Trp)	NC_000008.10:g.145737820G>A	VUS	2 labs	c73ca1b991
13:103299657 TPP2 A>G	13	103299657	103299657	A	G	TPP2	c.2591A>G	NM_003291.4	NP_003282.2:p.(Lys864Arg)	NC_000013.10:g.103299657A>G	VUS	2 labs	c740cd68a4
12:116429247 MED13L T>C	12	116429247	116429247	T	C	MED13L	c.3512A>G	NM_015335.4	NP_056150.1:p.(Lys1171Arg)	NC_000012.11:g.116429247T>C	(Likely) benign	2 labs	c74c23b45d
X:24331194 SUPT20HL2 T>C	X	24331194	24331194	T	C	SUPT20HL2	c.317A>G	NM_001136233.2	NP_001129705.2:p.(Asn106Ser)	NC_000023.10:g.24331194T>C	(Likely) benign	2 labs	c75c48df45
5:89981640 ADGRV1 G>A	5	89981640	89981640	G	A	ADGRV1	c.6318G>A	NM_032119.4	NP_115495.3:p.(Ala2106=)	NC_000005.9:g.89981640G>A	(Likely) benign	2 labs	c74efcfa32
7:5770393 RNF216 T>C	7	5770393	5770393	T	C	RNF216	c.1177A>G	NM_207111.3	NP_996994.1:p.(Ile393Val)	NC_000007.13:g.5770393T>C	(Likely) benign	2 labs	c769a6910f
19:7132245 INSR G>A	19	7132245	7132245	G	A	INSR	c.2766C>T	NM_000208.3	NP_000199.2:p.(Ser922=)	NC_000019.9:g.7132245G>A	(Likely) benign	2 labs	c76cef1e0c
X:128709135 OCRL C>T	X	128709135	128709135	C	T	OCRL	c.1621C>T	NM_000276.3	NP_000267.2:p.(Arg541Ter)	NC_000023.10:g.128709135C>T	(Likely) pathogenic	2 labs	c77659f98b
X:25022805 ARX C>T	X	25022805	25022805	C	T	ARX	c.1671G>A	NM_139058.3	NP_620689.1:p.(Thr557=)	NC_000023.10:g.25022805C>T	(Likely) benign	4 labs	c77935917a
10:123276865 FGFR2 G>C	10	123276865	123276865	G	C	FGFR2	c.1052C>G	NM_000141.4	NP_000132.3:p.(Ser351Cys)	NC_000010.10:g.123276865G>C	(Likely) pathogenic	2 labs	c78205a7a1
19:45855468 ERCC2 C>T	19	45855468	45855468	C	T	ERCC2	c.2189G>A	NM_000400.3	NP_000391.1:p.(Arg730Gln)	NC_000019.9:g.45855468C>T	(Likely) benign	2 labs	c785b78d73
18:43535154 EPG5 C>T	18	43535154	43535154	C	T	EPG5	c.214G>A	NM_020964.3	NP_066015.2:p.(Ala72Thr)	NC_000018.9:g.43535154C>T	(Likely) benign	2 labs	c78a14405d
11:45832845 SLC35C1 C>T	11	45832845	45832845	C	T	SLC35C1	c.1054C>T	NM_018389.4	NP_060859.4:p.(Pro352Ser)	NC_000011.9:g.45832845C>T	(Likely) benign	2 labs	c78a696826
16:57691409 ADGRG1 G>A	16	57691409	57691409	G	A	ADGRG1	c.1286+6G>A	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57691409G>A	(Likely) benign	2 labs	c78fe3ca4e
10:78651430 KCNMA1 G>A	10	78651430	78651430	G	A	KCNMA1	c.3033C>T	NM_001014797.3	NP_001014797.1:p.(Thr1011=)	NC_000010.10:g.78651430G>A	(Likely) benign	3 labs	c796ca12dd
11:76916520 MYO7A C>A	11	76916520	76916520	C	A	MYO7A	c.5494C>A	NM_000260.4	NP_000251.3:p.(Arg1832=)	NC_000011.9:g.76916520C>A	(Likely) benign	2 labs	c790220c1a
2:179477634 TTN A>C	2	179477634	179477634	A	C	TTN	c.49814T>G	NM_001267550.2	NP_001254479.2:p.(Val16605Gly)	NC_000002.11:g.179477634A>C	(Likely) benign	2 labs	c7a25bb675
7:6027153 PMS2 C>T	7	6027153	6027153	C	T	PMS2	c.934G>A	NM_001322015.1	NP_001308944.1:p.(Val312Met)	NC_000007.13:g.6027153C>T	(Likely) benign	3 labs	c7a7ee4291
5:82835724 VCAN T>G	5	82835724	82835724	T	G	VCAN	c.6902T>G	NM_004385.5	NP_004376.2:p.(Phe2301Cys)	NC_000005.9:g.82835724T>G	(Likely) benign	2 labs	c7a07fa245
12:106821018 POLR3B C>G	12	106821018	106821018	C	G	POLR3B	c.1145C>G	NM_018082.5	NP_060552.4:p.(Ser382Cys)	NC_000012.11:g.106821018C>G	VUS	2 labs	c7b384a588
16:56936421 SLC12A3 G>T	16	56936421	56936421	G	T	SLC12A3	c.2883+1G>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56936421G>T	(Likely) pathogenic	3 labs	c7b6ba20b6
3:172166053 GHSR C>A	3	172166053	172166053	C	A	GHSR	c.151G>T	NM_198407.2	NP_940799.1:p.(Val51Leu)	NC_000003.11:g.172166053C>A	(Likely) benign	2 labs	c7bfbbb691
20:31022959 ASXL1 T>C	20	31022959	31022959	T	C	ASXL1	c.2444=	NM_015338.6	NP_056153.2:p.(Pro815=)	NC_000020.10:g.31022959T>C	(Likely) benign	2 labs	c7cc472f16
5:149754519 TCOF1 G>A	5	149754519	149754519	G	A	TCOF1	c.1281G>A	NM_001135243.1	NP_001128715.1:p.(Ala427=)	NC_000005.9:g.149754519G>A	(Likely) benign	2 labs	c7d8d467a9
15:55520891 RAB27A C>G	15	55520891	55520891	C	G	RAB27A	c.259G>C	NM_004580.5	NP_004571.2:p.(Ala87Pro)	NC_000015.9:g.55520891C>G	(Likely) pathogenic	3 labs	c7d6e1bd3c
7:103202337 RELN C>A	7	103202337	103202337	C	A	RELN	c.5274G>T	NM_005045.3	NP_005036.2:p.(Ala1758=)	NC_000007.13:g.103202337C>A	(Likely) benign	2 labs	c7e03dc058
1:22214139 HSPG2 T>C	1	22214139	22214139	T	C	HSPG2	c.732A>G	NM_001291860.1	NP_001278789.1:p.(Thr244=)	NC_000001.10:g.22214139T>C	(Likely) benign	2 labs	c7f582a08b
10:72357857 PRF1 T>C	10	72357857	72357857	T	C	PRF1	c.1620A>G	NM_001083116.1	NP_001076585.1:p.(Gln540=)	NC_000010.10:g.72357857T>C	(Likely) benign	2 labs	c7fc1df1fd
12:58144446 CDK4 G>A	12	58144446	58144446	G	A	CDK4				NC_000012.11:g.58144446G>A	VUS	2 labs	c8025a7b4e
13:32913558 BRCA2 C>CA	13	32913558	32913565	C	CA	BRCA2	c.5073dup	NM_000059.3	NP_000050.2:p.(Trp1692MetfsTer3)	NC_000013.10:g.32913565dup	(Likely) pathogenic	2 labs	c80a0264cf
17:39919508 JUP G>A	17	39919508	39919508	G	A	JUP	c.1224C>T	NM_002230.4	NP_002221.1:p.(Leu408=)	NC_000017.10:g.39919508G>A	(Likely) benign	3 labs	c80ebf2bf5
14:105414282 AHNAK2 G>C	14	105414282	105414282	G	C	AHNAK2	c.7506C>G	NM_138420.3	NP_612429.2:p.(Ile2502Met)	NC_000014.8:g.105414282G>C	VUS	2 labs	c81e505d61
7:92761203 SAMD9L A>G	7	92761203	92761203	A	G	SAMD9L	c.4082T>C	NM_152703.4	NP_689916.2:p.(Val1361Ala)	NC_000007.13:g.92761203A>G	(Likely) benign	2 labs	c82901154c
6:65301667 EYS T>C	6	65301667	65301667	T	C	EYS	c.4093A>G	NM_001292009.2	NP_001278938.1:p.(Lys1365Glu)	NC_000006.11:g.65301667T>C	(Likely) benign	2 labs	c82df7bc68
19:6696439 C3 G>A	19	6696439	6696439	G	A	C3	c.2901C>T	NM_000064.2	NP_000055.2:p.(Leu967=)	NC_000019.9:g.6696439G>A	(Likely) benign	3 labs	c83d5797b0
16:27689120 KATNIP A>G	16	27689120	27689120	A	G	KATNIP	c.611A>G	NM_015202.5	NP_056017.4:p.(Tyr204Cys)	NC_000016.9:g.27689120A>G	VUS	2 labs	c84820b2f0
5:126755873 MEGF10 G>A	5	126755873	126755873	G	A	MEGF10	c.1564G>A	NM_032446.2	NP_115822.1:p.(Gly522Arg)	NC_000005.9:g.126755873G>A	(Likely) benign	2 labs	c84f5778c0
21:46930092 COL18A1 G>A	21	46930092	46930092	G	A	COL18A1	c.3601G>A	NM_130445.2	NP_569712.2:p.(Ala1201Thr)	NC_000021.8:g.46930092G>A	(Likely) benign	2 labs	c858d9e59d
10:88452299 LDB3 C>T	10	88452299	88452299	C	T	LDB3	c.867C>T	NM_007078.2	NP_009009.1:p.(Asp289=)	NC_000010.10:g.88452299C>T	(Likely) benign	2 labs	c85e539be0
X:109695385 RTL9 C>T	X	109695385	109695385	C	T	RTL9	c.1540C>T	NM_020769.2	NP_065820.1:p.(Pro514Ser)	NC_000023.10:g.109695385C>T	VUS	2 labs	c8619f235b
20:42744338 JPH2 T>C	20	42744338	42744338	T	C	JPH2	c.1977A>G	NM_020433.4	NP_065166.2:p.(Ala659=)	NC_000020.10:g.42744338T>C	(Likely) benign	2 labs	c86e2da45d
7:35242369 TBX20 T>G	7	35242369	35242369	T	G	TBX20	c.1017A>C	NM_001077653.2	NP_001071121.1:p.(Thr339=)	NC_000007.13:g.35242369T>G	(Likely) benign	2 labs	c87b856262
X:49099743 CCDC22 C>T	X	49099743	49099743	C	T	CCDC22	c.536-7C>T	NM_014008.4	NP_054727.1:p.?	NC_000023.10:g.49099743C>T	(Likely) benign	2 labs	c876acfeda
9:107581904 ABCA1 G>A	9	107581904	107581904	G	A	ABCA1	c.3204C>T	NM_005502.4	NP_005493.2:p.(Arg1068=)	NC_000009.11:g.107581904G>A	(Likely) benign	2 labs	c8786f5de9
3:193332733 OPA1 G>A	3	193332733	193332733	G	A	OPA1	c.254G>A	NM_130837.2	NP_570850.2:p.(Arg85His)	NC_000003.11:g.193332733G>A	(Likely) benign	2 labs	c885c7ff92
17:42426791 GRN T>C	17	42426791	42426791	T	C	GRN	c.139-3T>C	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42426791T>C	(Likely) benign	2 labs	c88a6bb5c7
1:198725059 PTPRC G>A	1	198725059	198725059	G	A	PTPRC	c.3670G>A	NM_002838.4	NP_002829.3:p.(Val1224Ile)	NC_000001.10:g.198725059G>A	(Likely) benign	2 labs	c899d4e8e5
20:31383232 DNMT3B C>T	20	31383232	31383232	C	T	DNMT3B	c.1144C>T	NM_006892.3	NP_008823.1:p.(Arg382Cys)	NC_000020.10:g.31383232C>T	VUS	2 labs	c8a4a7831a
4:1807864 FGFR3 C>T	4	1807864	1807864	C	T	FGFR3	c.1923C>T	NM_000142.4	NP_000133.1:p.(Asp641=)	NC_000004.11:g.1807864C>T	(Likely) benign	2 labs	c8a72c73b8
14:77493500 IRF2BPL G>A	14	77493500	77493500	G	A	IRF2BPL	c.636C>T	NM_024496.4	NP_078772.1:p.(Asn212=)	NC_000014.8:g.77493500G>A	(Likely) benign	2 labs	c8ae6f1f81
10:27459948 MASTL A>G	10	27459948	27459948	A	G	MASTL	c.2060A>G	NM_001320757.1	NP_001307686.1:p.(Tyr687Cys)	NC_000010.10:g.27459948A>G	(Likely) benign	3 labs	c8b5997e93
X:119573071 LAMP2 C>T	X	119573071	119573071	C	T	LAMP2	c.1171G>A	NM_013995.2	NP_054701.1:p.(Val391Ile)	NC_000023.10:g.119573071C>T	(Likely) benign	4 labs	c8c20e52e9
2:179418107 TTN G>A	2	179418107	179418107	G	A	TTN	c.89520C>T	NM_001267550.1	NP_001254479.1:p.(Asp29840=)	NC_000002.11:g.179418107G>A	(Likely) benign	3 labs	c8c2a79bd2
1:237617878 RYR2 C>T	1	237617878	237617878	C	T	RYR2	c.1476+4C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237617878C>T	(Likely) benign	3 labs	c8baf639f0
10:21074757 NEBL G>A	10	21074757	21074757	G	A	NEBL	c.2964C>T	NM_006393.2	NP_006384.1:p.(Asp988=)	NC_000010.10:g.21074757G>A	(Likely) benign	3 labs	c8c57df4f1
13:23908169 SACS T>C	13	23908169	23908169	T	C	SACS	c.9846A>G	NM_014363.5	NP_055178.3:p.(Pro3282=)	NC_000013.10:g.23908169T>C	(Likely) benign	2 labs	c8c73e52fa
2:207014657 NDUFS1 TAAAA>T	2	207014657	207014682	TAAAA	T	NDUFS1	c.154-12_154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014679_207014682del	(Likely) benign	2 labs	c8c8e44561
X:32429867 DMD G>A	X	32429867	32429867	G	A	DMD	c.4233+2C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32429867G>A	(Likely) benign	4 labs	c8d2b76f99
X:135115570 SLC9A6 C>T	X	135115570	135115570	C	T	SLC9A6	c.1648-3C>T	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135115570C>T	(Likely) benign	2 labs	c8e3de6908
16:89357502 ANKRD11 G>A	16	89357502	89357502	G	A	ANKRD11	c.316C>T	NM_001256182.1	NP_001243111.1:p.(Arg106Ter)	NC_000016.9:g.89357502G>A	(Likely) pathogenic	2 labs	c8e8ce8593
X:22186430 PHEX C>T	X	22186430	22186430	C	T	PHEX	c.1406C>T	NM_000444.5	NP_000435.3:p.(Ala469Val)	NC_000023.10:g.22186430C>T	VUS	3 labs	c8f78df2cd
3:97499065 ARL6 G>A	3	97499065	97499065	G	A	ARL6	c.185+1G>A	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97499065G>A	(Likely) pathogenic	2 labs	c8f8b4ed29
1:237025584 MTR C>T	1	237025584	237025584	C	T	MTR	c.2245C>T	NM_000254.2	NP_000245.2:p.(Pro749Ser)	NC_000001.10:g.237025584C>T	VUS	3 labs	c90773dada
2:179424159 TTN G>A	2	179424159	179424159	G	A	TTN	c.86700C>T	NM_001267550.1	NP_001254479.1:p.(Asn28900=)	NC_000002.11:g.179424159G>A	(Likely) benign	2 labs	c90e8f9995
20:2375262 TGM6 A>G	20	2375262	2375262	A	G	TGM6	c.172A>G	NM_198994.3	NP_945345.2:p.(Met58Val)	NC_000020.10:g.2375262A>G	(Likely) benign	3 labs	c9115b51d4
1:156105028 LMNA T>C	1	156105028	156105028	T	C	LMNA	c.861T>C	NM_170707.4	NP_733821.1:p.(Ala287=)	NC_000001.10:g.156105028T>C	(Likely) benign	5 labs	c91eb11192
12:21958186 ABCC9 TAA>ATTT	12	21958186	21958188	TAA	ATTT	ABCC9	c.4570_4572delinsAAAT	NM_005691.2	NP_005682.2:p.(Leu1524LysfsTer5)	NC_000012.11:g.21958186_21958188delinsATTT	VUS	2 labs	c92f621f4f
10:55582181 PCDH15 G>GAGGAGGAGC	10	55582181	55582191	G	GAGGAGGAGC	PCDH15	c.5317_5325dup	NM_001142763.1	NP_001136235.1:p.(Ala1773_Pro1775dup)	NC_000010.10:g.55582183_55582191dup	VUS	2 labs	c9305849a5
5:10262607 CCT5 G>A	5	10262607	10262607	G	A	CCT5	c.1029G>A	NM_001306154.2	NP_001293083.1:p.(Ala343=)	NC_000005.9:g.10262607G>A	(Likely) benign	2 labs	c927e875da
4:1807889 FGFR3 A>C	4	1807889	1807889	A	C	FGFR3	c.1948A>C	NM_000142.5	NP_000133.1:p.(Lys650Gln)	NC_000004.11:g.1807889A>C	(Likely) pathogenic	3 labs	c928ff724c
1:228529158 OBSCN C>T	1	228529158	228529158	C	T	OBSCN	c.20748C>T	NM_001271223.2	NP_001258152.2:p.(Asn6916=)	NC_000001.10:g.228529158C>T	(Likely) benign	2 labs	c932e64263
2:179438812 TTN T>A	2	179438812	179438812	T	A	TTN	c.72047A>T	NM_001267550.2	NP_001254479.2:p.(Asp24016Val)	NC_000002.11:g.179438812T>A	VUS	3 labs	c9332b3362
10:27826875 RAB18 C>G	10	27826875	27826875	C	G	RAB18	c.449C>G	NM_001256411.1	NP_001243340.1:p.(Pro150Arg)	NC_000010.10:g.27826875C>G	VUS	2 labs	c933a8e415
6:112537602 LAMA4 G>A	6	112537602	112537602	G	A	LAMA4	c.264C>T	NM_001105206.3	NP_001098676.2:p.(Ser88=)	NC_000006.11:g.112537602G>A	(Likely) benign	3 labs	c93679dc88
2:163136544 IFIH1 G>C	2	163136544	163136544	G	C	IFIH1	c.1603C>G	NM_022168.4	NP_071451.2:p.(Pro535Ala)	NC_000002.11:g.163136544G>C	VUS	2 labs	c957acd731
11:103182774 DYNC2H1 C>A	11	103182774	103182774	C	A	DYNC2H1	c.11670+12C>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103182774C>A	(Likely) benign	2 labs	c954aea0ca
19:7150532 INSR G>A	19	7150532	7150532	G	A	INSR	c.2243C>T	NM_000208.3	NP_000199.2:p.(Ser748Leu)	NC_000019.9:g.7150532G>A	(Likely) benign	3 labs	c9563ac954
16:89346885 ANKRD11 G>A	16	89346885	89346885	G	A	ANKRD11	c.6065C>T	NM_001256182.1	NP_001243111.1:p.(Pro2022Leu)	NC_000016.9:g.89346885G>A	(Likely) benign	2 labs	c95d4b37b7
1:228346199 GJC2 G>A	1	228346199	228346199	G	A	GJC2	c.740G>A	NM_020435.3	NP_065168.2:p.(Arg247His)	NC_000001.10:g.228346199G>A	VUS	2 labs	c95ecc5615
9:5072536 JAK2 C>T	9	5072536	5072536	C	T	JAK2	c.1686C>T	NM_001322194.1	NP_001309123.1:p.(Gly562=)	NC_000009.11:g.5072536C>T	(Likely) benign	2 labs	c968e9cced
17:1410357 INPP5K C>T	17	1410357	1410357	C	T	INPP5K	c.465G>A	NM_001135642.1	NP_001129114.1:p.(Pro155=)	NC_000017.10:g.1410357C>T	(Likely) benign	2 labs	c970443d63
15:44859751 SPG11 G>A	15	44859751	44859751	G	A	SPG11	c.6625C>T	NM_025137.3	NP_079413.3:p.(Arg2209Cys)	NC_000015.9:g.44859751G>A	VUS	2 labs	c9709f4ff3
7:92732403 SAMD9 T>C	7	92732403	92732403	T	C	SAMD9	c.3008A>G	NM_017654.3	NP_060124.2:p.(Asn1003Ser)	NC_000007.13:g.92732403T>C	(Likely) benign	3 labs	c972e04226
11:63987471 FERMT3 G>A	11	63987471	63987471	G	A	FERMT3	c.1200G>A	NM_178443.2	NP_848537.1:p.(Gln400=)	NC_000011.9:g.63987471G>A	(Likely) benign	2 labs	c981b1502e
17:60673946 TLK2 G>A	17	60673946	60673946	G	A	TLK2	c.1461G>A	NM_006852.6	NP_006843.2:p.(Lys487=)	NC_000017.10:g.60673946G>A	(Likely) benign	2 labs	c9877621b5
3:100951746 IMPG2 A>T	3	100951746	100951746	A	T	IMPG2	c.3112T>A	NM_016247.3	NP_057331.2:p.(Cys1038Ser)	NC_000003.11:g.100951746A>T	VUS	2 labs	c999e439b6
X:47308579 ZNF41 T>C	X	47308579	47308579	T	C	ZNF41	c.590A>G	NM_007130.3	NP_009061.1:p.(Lys197Arg)	NC_000023.10:g.47308579T>C	(Likely) benign	2 labs	c99d64dada
2:48033551 MSH6 C>G	2	48033551	48033551	C	G	MSH6	c.3802-40C>G	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033551C>G	(Likely) benign	2 labs	c9a5d4287c
6:152720912 SYNE1 G>T	6	152720912	152720912	G	T	SYNE1	c.7076C>A	NM_182961.3	NP_892006.3:p.(Thr2359Asn)	NC_000006.11:g.152720912G>T	VUS	2 labs	c9ab39823d
17:56056608 VEZF1 TGC>T	17	56056608	56056610	TGC	T	VEZF1	c.1041_1042del	NM_007146.3	NP_009077.2:p.(Gln348AlafsTer27)	NC_000017.10:g.56056609_56056610del	VUS	2 labs	c9b46424e4
2:27592744 EIF2B4 C>A	2	27592744	27592744	C	A	EIF2B4	c.29G>T	NM_001318966.1	NP_001305895.1:p.(Gly10Val)	NC_000002.11:g.27592744C>A	VUS	2 labs	c9b785863c
6:152457795 SYNE1 C>T	6	152457795	152457795	C	T	SYNE1	c.25617G>A	NM_182961.3	NP_892006.3:p.(Glu8539=)	NC_000006.11:g.152457795C>T	(Likely) benign	2 labs	c9c2abcb0a
2:31593333 XDH G>A	2	31593333	31593333	G	A	XDH	c.1868C>T	NM_000379.3	NP_000370.2:p.(Thr623Ile)	NC_000002.11:g.31593333G>A	(Likely) benign	2 labs	c9d1e9a622
1:6505963 ESPN C>T	1	6505963	6505963	C	T	ESPN	c.1432C>T	NM_031475.3	NP_113663.2:p.(Arg478Cys)	NC_000001.10:g.6505963C>T	VUS	2 labs	c9d4b14e40
9:117188522 WHRN G>A	9	117188522	117188522	G	A	WHRN	c.1135C>T	NM_015404.3	NP_056219.3:p.(Arg379Trp)	NC_000009.11:g.117188522G>A	VUS	2 labs	c9da41f48a
10:43609941 RET C>T	10	43609941	43609941	C	T	RET	c.1893C>T	NM_020975.4	NP_066124.1:p.(Asp631=)	NC_000010.10:g.43609941C>T	(Likely) benign	2 labs	c9dbfc360f
1:172411370 PIGC A>G	1	172411370	172411370	A	G	PIGC	c.393T>C	NM_002642.3	NP_002633.1:p.(Tyr131=)	NC_000001.10:g.172411370A>G	(Likely) benign	2 labs	c9df1330fd
12:49446456 KMT2D G>A	12	49446456	49446456	G	A	KMT2D	c.1149C>T	NM_003482.3	NP_003473.3:p.(Asp383=)	NC_000012.11:g.49446456G>A	(Likely) benign	2 labs	c9e0c2eea7
1:26392835 TRIM63 G>A	1	26392835	26392835	G	A	TRIM63	c.256C>T	NM_032588.4	NP_115977.2:p.(Arg86Cys)	NC_000001.10:g.26392835G>A	VUS	2 labs	c9f577938b
17:41226515 BRCA1 G>T	17	41226515	41226515	G	T	BRCA1	c.4508C>A	NM_007294.4	NP_009225.1:p.(Ser1503Ter)	NC_000017.10:g.41226515G>T	(Likely) pathogenic	3 labs	ca013c098b
9:139391420 NOTCH1 C>A	9	139391420	139391420	C	A	NOTCH1	c.6771G>T	NM_017617.5	NP_060087.3:p.(Ala2257=)	NC_000009.11:g.139391420C>A	(Likely) benign	2 labs	ca045f5cd9
17:29554565 NF1 T>C	17	29554565	29554565	T	C	NF1	c.2350T>C	NM_000267.3	NP_000258.1:p.(Trp784Arg)	NC_000017.10:g.29554565T>C	(Likely) pathogenic	3 labs	ca0641cc25
10:67862963 CTNNA3 G>A	10	67862963	67862963	G	A	CTNNA3	c.1929C>T	NM_013266.4	NP_037398.2:p.(His643=)	NC_000010.10:g.67862963G>A	(Likely) benign	5 labs	ca0ac9b236
X:18606055 CDKL5 C>G	X	18606055	18606055	C	G	CDKL5	c.555-19C>G	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18606055C>G	(Likely) benign	2 labs	ca09e1a5d0
11:108202772 ATM G>T	11	108202772	108202772	G	T	ATM	c.7788+8G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202772G>T	(Likely) benign	7 labs	ca1056624b
12:8975268 A2ML1 A>G	12	8975268	8975268	A	G	A2ML1	c.21A>G	NM_144670.5	NP_653271.2:p.(Leu7=)	NC_000012.11:g.8975268A>G	(Likely) benign	2 labs	ca0ed29afd
1:235952141 LYST G>A	1	235952141	235952141	G	A	LYST	c.4548C>T	NM_001301365.1	NP_001288294.1:p.(Ser1516=)	NC_000001.10:g.235952141G>A	(Likely) benign	2 labs	ca118b8108
1:43395537 SLC2A1 C>T	1	43395537	43395537	C	T	SLC2A1	c.679+7G>A	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43395537C>T	(Likely) benign	2 labs	ca13cc88f0
16:70905984 HYDIN G>A	16	70905984	70905984	G	A	HYDIN	c.11047C>T	NM_001270974.2	NP_001257903.1:p.(Arg3683Trp)	NC_000016.9:g.70905984G>A	(Likely) benign	2 labs	ca20bec18a
5:112162854 APC T>C	5	112162854	112162854	T	C	APC	c.1458T>C	NM_000038.6	NP_000029.2:p.(Tyr486=)	NC_000005.9:g.112162854T>C	(Likely) benign	4 labs	ca24012157
4:79387359 FRAS1 C>G	4	79387359	79387359	C	G	FRAS1	c.7030-3C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79387359C>G	VUS	2 labs	ccff991f7f
3:150645949 CLRN1 T>C	3	150645949	150645949	T	C	CLRN1	c.512A>G	NM_001195794.1	NP_001182723.1:p.(Glu171Gly)	NC_000003.11:g.150645949T>C	VUS	2 labs	ca242f347a
21:43808545 TMPRSS3 G>T	21	43808545	43808545	G	T	TMPRSS3	c.413C>A	NM_024022.2	NP_076927.1:p.(Ala138Glu)	NC_000021.8:g.43808545G>T	(Likely) pathogenic	3 labs	ca2522c850
20:57466790 GNAS C>T	20	57466790	57466790	C	T	GNAS	c.9C>T	NM_001077488.5	NP_001070956.1:p.(Cys3=)	NC_000020.10:g.57466790C>T	(Likely) benign	3 labs	ca28a6a57b
20:44663630 SLC12A5 C>T	20	44663630	44663630	C	T	SLC12A5	c.165C>T	NM_001134771.2	NP_001128243.1:p.(Thr55=)	NC_000020.10:g.44663630C>T	(Likely) benign	3 labs	ca2dcbebf4
17:29546086 NF1 C>T	17	29546086	29546086	C	T	NF1	c.1591C>T	NM_000267.3	NP_000258.1:p.(Gln531Ter)	NC_000017.10:g.29546086C>T	(Likely) pathogenic	2 labs	ca2f46a49e
2:50765589 NRXN1 T>C	2	50765589	50765589	T	C	NRXN1	c.2065A>G	NM_001135659.2	NP_001129131.1:p.(Ile689Val)	NC_000002.11:g.50765589T>C	(Likely) benign	2 labs	ca2f65f393
9:138678104 KCNT1 G>T	9	138678104	138678104	G	T	KCNT1	c.3104G>T	NM_001272003.2	NP_001258932.1:p.(Gly1035Val)	NC_000009.11:g.138678104G>T	(Likely) benign	3 labs	ca39c837d8
7:146805232 CNTNAP2 G>T	7	146805232	146805232	G	T	CNTNAP2	c.551-7G>T	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.146805232G>T	(Likely) benign	2 labs	ca41145190
11:58891961 FAM111B GT>G	11	58891961	58891964	GT	G	FAM111B	c.394del	NM_198947.4	NP_945185.1:p.(Tyr132MetfsTer6)	NC_000011.9:g.58891964del	(Likely) benign	2 labs	ca44d8a2ab
7:107315496 SLC26A4 T>C	7	107315496	107315496	T	C	SLC26A4	c.707T>C	NM_000441.2	NP_000432.1:p.(Leu236Pro)	NC_000007.13:g.107315496T>C	(Likely) pathogenic	3 labs	ca49398ede
22:19883021 TXNRD2 C>G	22	19883021	19883021	C	G	TXNRD2	c.858G>C	NM_006440.5	NP_006431.2:p.(Arg286Ser)	NC_000022.10:g.19883021C>G	(Likely) benign	2 labs	ca49fb94b2
1:235945254 LYST C>T	1	235945254	235945254	C	T	LYST	c.4996G>A	NM_001301365.1	NP_001288294.1:p.(Asp1666Asn)	NC_000001.10:g.235945254C>T	(Likely) benign	2 labs	ca4b691031
15:41319844 INO80 G>A	15	41319844	41319844	G	A	INO80	c.2998C>T	NM_017553.3	NP_060023.1:p.(Arg1000Cys)	NC_000015.9:g.41319844G>A	(Likely) benign	2 labs	ca4cd13c94
1:5934967 NPHP4 G>A	1	5934967	5934967	G	A	NPHP4	c.3011C>T	NM_015102.4	NP_055917.1:p.(Thr1004Met)	NC_000001.10:g.5934967G>A	VUS	2 labs	ca5bc9c73c
4:39207318 WDR19 A>G	4	39207318	39207318	A	G	WDR19	c.852A>G	NM_025132.3	NP_079408.3:p.(Ser284=)	NC_000004.11:g.39207318A>G	(Likely) benign	2 labs	ca646caf6b
6:65301167 EYS C>T	6	65301167	65301167	C	T	EYS	c.4593G>A	NM_001142800.1	NP_001136272.1:p.(Glu1531=)	NC_000006.11:g.65301167C>T	(Likely) benign	2 labs	ca6cc72418
19:7626134 PNPLA6 C>T	19	7626134	7626134	C	T	PNPLA6	c.3984C>T	NM_001166111.2	NP_001159583.1:p.(Ala1328=)	NC_000019.9:g.7626134C>T	(Likely) benign	3 labs	ca6f413fb6
X:110654142 DCX C>A	X	110654142	110654142	C	A	DCX	c.61G>T	NM_000555.3	NP_000546.2:p.(Glu21Ter)	NC_000023.10:g.110654142C>A	VUS	2 labs	ca71e83440
3:9959640 IL17RC T>C	3	9959640	9959640	T	C	IL17RC	c.374T>C	NM_153461.3	NP_703191.1:p.(Val125Ala)	NC_000003.11:g.9959640T>C	(Likely) benign	3 labs	ca808b3b82
6:5404899 FARS2 C>T	6	5404899	5404899	C	T	FARS2	c.737C>T	NM_001318872.1	NP_001305801.1:p.(Thr246Met)	NC_000006.11:g.5404899C>T	(Likely) benign	2 labs	ca81372204
18:19353656 MIB1 T>G	18	19353656	19353656	T	G	MIB1	c.603T>G	NM_020774.4	NP_065825.1:p.(Ala201=)	NC_000018.9:g.19353656T>G	(Likely) benign	2 labs	ca78acf808
16:88902168 GALNS G>A	16	88902168	88902168	G	A	GALNS	c.723C>T	NM_000512.4	NP_000503.1:p.(Ala241=)	NC_000016.9:g.88902168G>A	(Likely) benign	2 labs	ca84520b61
17:2585092 PAFAH1B1 G>A	17	2585092	2585092	G	A	PAFAH1B1	c.1229G>A	NM_000430.4	NP_000421.1:p.(Arg410His)	NC_000017.10:g.2585092G>A	VUS	2 labs	ca87b6c799
2:179422669 TTN G>T	2	179422669	179422669	G	T	TTN	c.79708C>A	NM_133378.4	NP_596869.4:p.(Pro26570Thr)	NC_000002.11:g.179422669G>T	(Likely) benign	4 labs	ca9f310fcb
17:73728300 ITGB4 G>T	17	73728300	73728300	G	T	ITGB4	c.1434G>T	NM_000213.4	NP_000204.3:p.(Gln478His)	NC_000017.10:g.73728300G>T	(Likely) benign	2 labs	ca9c0b1dde
1:33502405 AK2 C>T	1	33502405	33502405	C	T	AK2	c.25G>A	NM_001319141.1	NP_001306070.1:p.(Glu9Lys)	NC_000001.10:g.33502405C>T	(Likely) benign	3 labs	caa23b2e1c
2:163134846 IFIH1 T>C	2	163134846	163134846	T	C	IFIH1	c.1642-8A>G	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163134846T>C	(Likely) benign	2 labs	cab3e511f5
4:110890274 EGF G>A	4	110890274	110890274	G	A	EGF	c.1723G>A	NM_001963.5	NP_001954.2:p.(Gly575Arg)	NC_000004.11:g.110890274G>A	(Likely) benign	2 labs	cab465a2b0
1:5965824 NPHP4 G>C	1	5965824	5965824	G	C	NPHP4	c.1631C>G	NM_015102.4	NP_055917.1:p.(Ala544Gly)	NC_000001.10:g.5965824G>C	(Likely) benign	3 labs	cab5a69e10
X:38169914 RPGR C>T	X	38169914	38169914	C	T	RPGR	c.732G>A	NM_001034853.2	NP_001030025.1:p.(Lys244=)	NC_000023.10:g.38169914C>T	(Likely) benign	2 labs	cab1444aed
2:179437556 TTN G>A	2	179437556	179437556	G	A	TTN	c.73303C>T	NM_001267550.2	NP_001254479.2:p.(Arg24435Cys)	NC_000002.11:g.179437556G>A	VUS	3 labs	cab5bca090
1:94564350 ABCA4 C>A	1	94564350	94564350	C	A	ABCA4	c.768G>T	NM_000350.2	NP_000341.2:p.(Val256=)	NC_000001.10:g.94564350C>A	(Likely) pathogenic	2 labs	cad7e02db9
19:1051056 ABCA7 G>A	19	1051056	1051056	G	A	ABCA7	c.2684+5G>A	NM_019112.3	NP_061985.2:p.?	NC_000019.9:g.1051056G>A	VUS	2 labs	cada64d14e
18:47390526 MYO5B G>A	18	47390526	47390526	G	A	MYO5B	c.3828C>T	NM_001080467.2	NP_001073936.1:p.(Leu1276=)	NC_000018.9:g.47390526G>A	(Likely) benign	2 labs	cadc52ef08
X:12734626 FRMPD4 A>G	X	12734626	12734626	A	G	FRMPD4	c.2048A>G	NM_014728.3	NP_055543.2:p.(Glu683Gly)	NC_000023.10:g.12734626A>G	(Likely) benign	2 labs	cadd7a7fe9
6:118880119 CEP85L TAAG>T	6	118880119	118880126	TAAG	T	CEP85L	c.1020+6570_1020+6572del	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118880124_118880126del	(Likely) pathogenic	2 labs	cae27dde81
4:186446250 PDLIM3 T>C	4	186446250	186446250	T	C	PDLIM3	c.169A>G	NM_014476.5	NP_055291.2:p.(Thr57Ala)	NC_000004.11:g.186446250T>C	(Likely) benign	2 labs	cae46435b0
3:63985157 ATXN7 C>A	3	63985157	63985157	C	A	ATXN7	c.2760C>A	NM_001177387.1	NP_001170858.1:p.(Ser920Arg)	NC_000003.11:g.63985157C>A	(Likely) benign	2 labs	cae6fc79ad
9:139390742 NOTCH1 C>T	9	139390742	139390742	C	T	NOTCH1	c.7449G>A	NM_017617.5	NP_060087.3:p.(Thr2483=)	NC_000009.11:g.139390742C>T	(Likely) benign	2 labs	cae905aba6
8:100146946 VPS13B T>G	8	100146946	100146946	T	G	VPS13B	c.1293T>G	NM_017890.4	NP_060360.3:p.(Thr431=)	NC_000008.10:g.100146946T>G	(Likely) benign	3 labs	caee220ed4
13:32953616 BRCA2 C>T	13	32953616	32953616	C	T	BRCA2	c.8917C>T	NM_000059.4	NP_000050.3:p.(Arg2973Cys)	NC_000013.10:g.32953616C>T	(Likely) benign	2 labs	caea82221f
X:67283825 OPHN1 G>T	X	67283825	67283825	G	T	OPHN1	c.2029C>A	NM_002547.2	NP_002538.1:p.(Leu677Met)	NC_000023.10:g.67283825G>T	(Likely) benign	3 labs	caf6e0fc77
8:61750687 CHD7 A>G	8	61750687	61750687	A	G	CHD7				NC_000008.10:g.61750687A>G	(Likely) pathogenic	2 labs	cafd63e410
2:167055370 SCN9A G>A	2	167055370	167055370	G	A	SCN9A	c.5746C>T	NM_002977.3	NP_002968.1:p.(Leu1916Phe)	NC_000002.11:g.167055370G>A	(Likely) benign	2 labs	cafda1852a
1:103381192 COL11A1 C>A	1	103381192	103381192	C	A	COL11A1	c.3847G>T	NM_080629.3	NP_542196.2:p.(Val1283Leu)	NC_000001.10:g.103381192C>A	(Likely) benign	2 labs	cb036beaab
2:179423146 TTN G>A	2	179423146	179423146	G	A	TTN	c.87040C>T	NM_001267550.2	NP_001254479.2:p.(Arg29014Ter)	NC_000002.11:g.179423146G>A	(Likely) pathogenic	5 labs	cb10877931
1:207495781 CD55 G>C	1	207495781	207495781	G	C	CD55	c.155G>C	NM_001114752.2	NP_001108224.1:p.(Arg52Pro)	NC_000001.10:g.207495781G>C	(Likely) benign	2 labs	cb1e8ed857
8:133931769 TG C>T	8	133931769	133931769	C	T	TG	c.4527C>T	NM_003235.4	NP_003226.4:p.(His1509=)	NC_000008.10:g.133931769C>T	(Likely) benign	2 labs	cb298232e5
3:10191504 VHL T>C	3	10191504	10191504	T	C	VHL	c.497T>C	NM_000551.3	NP_000542.1:p.(Val166Ala)	NC_000003.11:g.10191504T>C	(Likely) pathogenic	2 labs	cb2bde1224
1:12943215 PRAMEF4 T>C	1	12943215	12943215	T	C	PRAMEF4	c.1A>G	NM_001009611.4	NP_001009611.2:p.(Met1?)	NC_000001.10:g.12943215T>C	(Likely) benign	2 labs	cb3619d0cd
13:111160459 COL4A2 C>G	13	111160459	111160459	C	G	COL4A2	c.4772C>G	NM_001846.3	NP_001837.2:p.(Ser1591Cys)	NC_000013.10:g.111160459C>G	VUS	2 labs	cb3ebd269b
20:47587760 ARFGEF2 A>G	20	47587760	47587760	A	G	ARFGEF2	c.1294A>G	NM_006420.3	NP_006411.2:p.(Ile432Val)	NC_000020.10:g.47587760A>G	VUS	2 labs	cb43ef7b86
1:100661982 DBT G>T	1	100661982	100661982	G	T	DBT	c.1282-4C>A	NM_001918.3	NP_001909.3:p.?	NC_000001.10:g.100661982G>T	(Likely) benign	2 labs	cb45b9a123
10:112583265 RBM20 C>T	10	112583265	112583265	C	T	RBM20	c.3344C>T	NM_001134363.1	NP_001127835.1:p.(Ser1115Phe)	NC_000010.10:g.112583265C>T	VUS	2 labs	cb4723bd9d
12:124233163 ATP6V0A2 C>T	12	124233163	124233163	C	T	ATP6V0A2	c.1766C>T	NM_012463.3	NP_036595.2:p.(Pro589Leu)	NC_000012.11:g.124233163C>T	VUS	2 labs	cb4d58c89a
6:86224218 SNX14 T>A	6	86224218	86224218	T	A	SNX14	c.2392+6A>T	NM_153816.5	NP_722523.1:p.?	NC_000006.11:g.86224218T>A	(Likely) benign	2 labs	cb4d6498c3
13:32914546 BRCA2 T>C	13	32914546	32914546	T	C	BRCA2	c.6054T>C	NM_000059.3	NP_000050.2:p.(Ser2018=)	NC_000013.10:g.32914546T>C	(Likely) benign	3 labs	cb51e5921e
12:102147247 GNPTAB TGA>T	12	102147247	102147251	TGA	T	GNPTAB	c.3503_3504del	NM_024312.5	NP_077288.2:p.(Leu1168GlnfsTer5)	NC_000012.11:g.102147250_102147251del	(Likely) pathogenic	3 labs	cb4ffb564c
17:29546035 NF1 CAG>C	17	29546035	29546037	CAG	C	NF1	c.1541_1542del	NM_001042492.3	NP_001035957.1:p.(Gln514ArgfsTer43)	NC_000017.10:g.29546036_29546037del	(Likely) pathogenic	2 labs	cb5c238889
2:179466380 TTN C>G	2	179466380	179466380	C	G	TTN	c.55432+5G>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179466380C>G	VUS	2 labs	cb5e247380
20:60835127 OSBPL2 G>T	20	60835127	60835127	G	T	OSBPL2	c.128G>T	NM_144498.2	NP_653081.1:p.(Arg43Met)	NC_000020.10:g.60835127G>T	(Likely) benign	2 labs	cb63e4e767
3:14180813 TMEM43 G>A	3	14180813	14180813	G	A	TMEM43	c.1000+16G>A	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14180813G>A	VUS	2 labs	cb66686eee
2:45169819 SIX3 C>T	2	45169819	45169819	C	T	SIX3	c.576C>T	NM_005413.3	NP_005404.1:p.(Arg192=)	NC_000002.11:g.45169819C>T	(Likely) benign	2 labs	cb66b57be0
3:49457761 AMT C>T	3	49457761	49457761	C	T	AMT	c.354G>A	NM_000481.3	NP_000472.2:p.(Leu118=)	NC_000003.11:g.49457761C>T	(Likely) benign	2 labs	cb6d8d7b3f
6:76596587 MYO6 C>T	6	76596587	76596587	C	T	MYO6	c.2534C>T	NM_004999.3	NP_004990.3:p.(Thr845Ile)	NC_000006.11:g.76596587C>T	(Likely) benign	2 labs	cb778c25e5
12:49437423 KMT2D T>C	12	49437423	49437423	T	C	KMT2D	c.5462A>G	NM_003482.3	NP_003473.3:p.(Gln1821Arg)	NC_000012.11:g.49437423T>C	(Likely) benign	2 labs	cb7f99811b
17:7454154 TNFSF12 G>A	17	7454154	7454154	G	A	TNFSF12	c.322G>A	NM_003809.3	NP_003800.1:p.(Ala108Thr)	NC_000017.10:g.7454154G>A	VUS	2 labs	cb80d3f98c
11:108198440 ATM G>A	11	108198440	108198440	G	A	ATM	c.7044G>A	NM_000051.4	NP_000042.3:p.(Thr2348=)	NC_000011.9:g.108198440G>A	(Likely) benign	2 labs	cb80febbaf
22:17589928 IL17RA G>A	22	17589928	17589928	G	A	IL17RA	c.1819G>A	NM_014339.6	NP_055154.3:p.(Glu607Lys)	NC_000022.10:g.17589928G>A	(Likely) benign	2 labs	cbabb269fc
1:240370684 FMN2 C>A	1	240370684	240370684	C	A	FMN2	c.2584C>A	NM_001305424.2	NP_001292353.1:p.(Pro862Thr)	NC_000001.10:g.240370684C>A	(Likely) benign	3 labs	cba4b03884
14:91755478 CCDC88C C>T	14	91755478	91755478	C	T	CCDC88C	c.4412G>A	NM_001080414.3	NP_001073883.2:p.(Arg1471His)	NC_000014.8:g.91755478C>T	(Likely) benign	2 labs	cbb75396b9
13:32912001 BRCA2 C>T	13	32912001	32912001	C	T	BRCA2	c.3509C>T	NM_000059.3	NP_000050.2:p.(Ala1170Val)	NC_000013.10:g.32912001C>T	(Likely) benign	2 labs	cbbb52b518
11:65487516 RNASEH2C C>A	11	65487516	65487516	C	A	RNASEH2C	c.468G>T	NM_032193.4	NP_115569.2:p.(Ala156=)	NC_000011.9:g.65487516C>A	(Likely) benign	4 labs	cbbdea6fc7
2:179643820 TTN C>T	2	179643820	179643820	C	T	TTN	c.3989G>A	NM_001267550.1	NP_001254479.1:p.(Arg1330His)	NC_000002.11:g.179643820C>T	VUS	3 labs	cbc067c5a5
9:139401747 NOTCH1 C>T	9	139401747	139401747	C	T	NOTCH1	c.3643+10G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139401747C>T	(Likely) benign	2 labs	cbc277716f
12:52174435 SCN8A C>T	12	52174435	52174435	C	T	SCN8A	c.3822C>T	NM_014191.4	NP_055006.1:p.(Val1274=)	NC_000012.11:g.52174435C>T	(Likely) benign	3 labs	cbd0509aa2
3:142280108 ATR T>C	3	142280108	142280108	T	C	ATR	c.1326A>G	NM_001184.3	NP_001175.2:p.(Lys442=)	NC_000003.11:g.142280108T>C	(Likely) benign	2 labs	cbcb3390d7
11:6651555 DCHS1 C>G	11	6651555	6651555	C	G	DCHS1	c.4470G>C	NM_003737.4	NP_003728.1:p.(Ala1490=)	NC_000011.9:g.6651555C>G	(Likely) benign	2 labs	cbcc47df1e
7:74193484 NCF1 G>C	7	74193484	74193484	G	C	NCF1	c.210G>C	NM_000265.5	NP_000256.4:p.(Arg70Ser)	NC_000007.13:g.74193484G>C	(Likely) benign	2 labs	cbd8f78eb5
17:44091637 MAPT T>G	17	44091637	44091637	T	G	MAPT	c.1949T>G	NM_001123066.4	NP_001116538.2:p.(Leu650Arg)	NC_000017.10:g.44091637T>G	(Likely) pathogenic	2 labs	cbd50c9bf6
4:123844298 AFG2A A>C	4	123844298	123844298	A	C	AFG2A	c.1A>C	NM_145207.2	NP_660208.2:p.(Met1?)	NC_000004.11:g.123844298A>C	(Likely) pathogenic	3 labs	cbd7429963
19:11373079 DOCK6 A>G	19	11373079	11373079	A	G	DOCK6	c.38T>C	NM_020812.3	NP_065863.2:p.(Ile13Thr)	NC_000019.9:g.11373079A>G	(Likely) benign	2 labs	cbe724bfdf
3:132441143 NPHP3 C>G	3	132441143	132441143	C	G	NPHP3	c.57G>C	NM_153240.4	NP_694972.3:p.(Thr19=)	NC_000003.11:g.132441143C>G	(Likely) benign	2 labs	cbf2230c12
7:92129061 PEX1 C>T	7	92129061	92129061	C	T	PEX1	c.2051G>A	NM_001282678.2	NP_001269607.1:p.(Gly684Glu)	NC_000007.13:g.92129061C>T	VUS	4 labs	cbf3b2537c
14:88417003 GALC A>G	14	88417003	88417003	A	G	GALC	c.1251T>C	NM_000153.3	NP_000144.2:p.(Phe417=)	NC_000014.8:g.88417003A>G	(Likely) benign	2 labs	cbf42e8e9a
14:57268604 OTX2 G>A	14	57268604	57268604	G	A	OTX2	c.719C>T	NM_001270524.1	NP_001257453.1:p.(Thr240Ile)	NC_000014.8:g.57268604G>A	VUS	2 labs	cbf46b3578
2:179437791 TTN A>T	2	179437791	179437791	A	T	TTN	c.73068T>A	NM_001267550.1	NP_001254479.1:p.(Thr24356=)	NC_000002.11:g.179437791A>T	(Likely) benign	2 labs	cbfb59d8d1
6:51907820 PKHD1 C>T	6	51907820	51907820	C	T	PKHD1	c.2934G>A	NM_138694.3	NP_619639.3:p.(Gln978=)	NC_000006.11:g.51907820C>T	(Likely) benign	2 labs	cbfc373937
15:25616335 UBE3A T>C	15	25616335	25616335	T	C	UBE3A	c.926A>G	NM_001354543.1	NP_001341472.1:p.(Asn309Ser)	NC_000015.9:g.25616335T>C	(Likely) benign	2 labs	cbff87e051
X:54475582 FGD1 G>A	X	54475582	54475582	G	A	FGD1	c.2268C>T	NM_004463.2	NP_004454.2:p.(Cys756=)	NC_000023.10:g.54475582G>A	(Likely) benign	2 labs	cc0242a736
4:122782829 BBS7 C>T	4	122782829	122782829	C	T	BBS7	c.171G>A	NM_176824.3	NP_789794.1:p.(Val57=)	NC_000004.11:g.122782829C>T	(Likely) benign	2 labs	cc0995e48b
9:140711891 EHMT1 G>C	9	140711891	140711891	G	C	EHMT1	c.3375G>C	NM_024757.5	NP_079033.4:p.(Arg1125Ser)	NC_000009.11:g.140711891G>C	VUS	2 labs	cc15d877b3
1:68906614 RPE65 C>T	1	68906614	68906614	C	T	RPE65	c.565G>A	NM_000329.2	NP_000320.1:p.(Val189Ile)	NC_000001.10:g.68906614C>T	VUS	2 labs	cc1636cbc3
15:89398167 ACAN C>T	15	89398167	89398167	C	T	ACAN	c.2351C>T	NM_013227.3	NP_037359.3:p.(Ser784Leu)	NC_000015.9:g.89398167C>T	(Likely) benign	2 labs	cc1e9bd6aa
11:103026146 DYNC2H1 T>C	11	103026146	103026146	T	C	DYNC2H1	c.3660T>C	NM_001080463.1	NP_001073932.1:p.(Pro1220=)	NC_000011.9:g.103026146T>C	(Likely) benign	2 labs	cc1f771a28
2:179604157 TTN G>C	2	179604157	179604157	G	C	TTN	c.13803C>G	NM_001267550.2	NP_001254479.2:p.(Ile4601Met)	NC_000002.11:g.179604157G>C	VUS	2 labs	cc2a5bace6
12:50499347 GPD1 T>G	12	50499347	50499347	T	G	GPD1	c.236T>G	NM_005276.4	NP_005267.2:p.(Val79Gly)	NC_000012.11:g.50499347T>G	VUS	2 labs	cc291e1df4
12:133226040 POLE C>T	12	133226040	133226040	C	T	POLE	c.3857G>A	NM_006231.3	NP_006222.2:p.(Arg1286His)	NC_000012.11:g.133226040C>T	VUS	2 labs	cc32989c91
1:115256529 NRAS T>C	1	115256529	115256529	T	C	NRAS				NC_000001.10:g.115256529T>C	(Likely) pathogenic	2 labs	cc3409a4fe
1:5937327 NPHP4 C>T	1	5937327	5937327	C	T	NPHP4	c.2643G>A	NM_015102.5	NP_055917.1:p.(Ala881=)	NC_000001.10:g.5937327C>T	(Likely) benign	2 labs	cc37343bf0
5:94857921 SKIC3 T>C	5	94857921	94857921	T	C	SKIC3	c.1848A>G	NM_014639.3	NP_055454.1:p.(Thr616=)	NC_000005.9:g.94857921T>C	(Likely) benign	2 labs	cc4638f242
17:56285244 MKS1 C>T	17	56285244	56285244	C	T	MKS1	c.1273+11G>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56285244C>T	(Likely) benign	3 labs	cc3da4a4d5
2:179415701 TTN A>G	2	179415701	179415701	A	G	TTN	c.91557T>C	NM_001267550.2	NP_001254479.2:p.(Asp30519=)	NC_000002.11:g.179415701A>G	(Likely) benign	6 labs	cc4a3e1cdf
2:179427534 TTN T>TA	2	179427534	179427535	T	TA	TTN	c.83324dup	NM_001267550.1	NP_001254479.1:p.(Arg27776LysfsTer18)	NC_000002.11:g.179427535dup	(Likely) pathogenic	2 labs	cc58966b18
19:49684697 TRPM4 T>C	19	49684697	49684697	T	C	TRPM4	c.1242T>C	NM_017636.4	NP_060106.2:p.(Phe414=)	NC_000019.9:g.49684697T>C	(Likely) benign	2 labs	cc558e4a51
2:219527893 BCS1L C>T	2	219527893	219527893	C	T	BCS1L	c.1044C>T	NM_004328.4	NP_004319.1:p.(Asp348=)	NC_000002.11:g.219527893C>T	(Likely) benign	2 labs	cc65aad665
3:184045710 EIF4G1 C>T	3	184045710	184045710	C	T	EIF4G1	c.3876C>T	NM_182917.4	NP_886553.3:p.(Ala1292=)	NC_000003.11:g.184045710C>T	(Likely) benign	2 labs	cc6bc9ab33
14:51219249 NIN C>T	14	51219249	51219249	C	T	NIN	c.4937G>A	NM_020921.3	NP_065972.3:p.(Arg1646His)	NC_000014.8:g.51219249C>T	(Likely) benign	2 labs	cc71456407
5:1272270 TERT G>A	5	1272270	1272270	G	A	TERT	c.2382+30C>T	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1272270G>A	(Likely) benign	2 labs	cc7bcb7115
15:83330584 AP3B2 C>T	15	83330584	83330584	C	T	AP3B2	c.3009G>A	NM_001278512.1	NP_001265441.1:p.(Lys1003=)	NC_000015.9:g.83330584C>T	(Likely) benign	2 labs	cc82308898
2:62069482 FAM161A G>A	2	62069482	62069482	G	A	FAM161A	c.197C>T	NM_001201543.2	NP_001188472.1:p.(Thr66Ile)	NC_000002.11:g.62069482G>A	(Likely) benign	2 labs	cc76d5d3dd
9:133928345 LAMC3 C>T	9	133928345	133928345	C	T	LAMC3	c.1932C>T	NM_006059.4	NP_006050.3:p.(Ser644=)	NC_000009.11:g.133928345C>T	(Likely) benign	2 labs	cc860dc56a
5:80063847 MSH3 G>A	5	80063847	80063847	G	A	MSH3	c.1992G>A	NM_002439.4	NP_002430.3:p.(Gln664=)	NC_000005.9:g.80063847G>A	(Likely) benign	2 labs	cc956adf7c
14:21860965 CHD8 G>A	14	21860965	21860965	G	A	CHD8	c.6472C>T	NM_001170629.2	NP_001164100.1:p.(Arg2158Cys)	NC_000014.8:g.21860965G>A	VUS	2 labs	cc9e4d9ba4
3:30732989 TGFBR2 G>A	3	30732989	30732989	G	A	TGFBR2	c.1677G>A	NM_001024847.2	NP_001020018.1:p.(Val559=)	NC_000003.11:g.30732989G>A	(Likely) benign	2 labs	cca3b281a5
6:152679594 SYNE1 A>G	6	152679594	152679594	A	G	SYNE1	c.10522T>C	NM_182961.4	NP_892006.3:p.(Leu3508=)	NC_000006.11:g.152679594A>G	(Likely) benign	3 labs	cca741ed03
22:32894453 FBXO7 A>G	22	32894453	32894453	A	G	FBXO7	c.1505A>G	NM_012179.3	NP_036311.3:p.(Asn502Ser)	NC_000022.10:g.32894453A>G	(Likely) benign	2 labs	ccaa34c62a
9:117185766 WHRN G>A	9	117185766	117185766	G	A	WHRN	c.1454C>T	NM_015404.4	NP_056219.3:p.(Pro485Leu)	NC_000009.11:g.117185766G>A	(Likely) benign	2 labs	ccac6e8240
16:29825015 PRRT2 GC>G	16	29825015	29825024	GC	G	PRRT2	c.649del	NM_001256443.2	NP_001243372.1:p.(Arg217GlufsTer12)	NC_000016.9:g.29825024del	(Likely) pathogenic	3 labs	ccb0e20eb0
15:90195946 KIF7 C>T	15	90195946	90195946	C	T	KIF7	c.216G>A	NM_198525.2	NP_940927.2:p.(Gln72=)	NC_000015.9:g.90195946C>T	(Likely) benign	2 labs	ccb4d4346b
10:88469674 LDB3 T>G	10	88469674	88469674	T	G	LDB3	c.1113T>G	NM_001171610.1	NP_001165081.1:p.(Ser371=)	NC_000010.10:g.88469674T>G	(Likely) benign	2 labs	ccb66012e0
8:6302154 MCPH1 G>T	8	6302154	6302154	G	T	MCPH1	c.911G>T	NM_001172574.2	NP_001166045.2:p.(Arg304Ile)	NC_000008.10:g.6302154G>T	(Likely) benign	3 labs	ccbed6a638
14:77769186 POMT2 G>A	14	77769186	77769186	G	A	POMT2	c.648C>T	NM_013382.5	NP_037514.2:p.(Cys216=)	NC_000014.8:g.77769186G>A	(Likely) benign	2 labs	ccbfc96e7f
21:47766139 PCNT T>C	21	47766139	47766139	T	C	PCNT	c.720+17T>C	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47766139T>C	(Likely) benign	2 labs	ccc213856c
4:5721084 EVC A>G	4	5721084	5721084	A	G	EVC	c.284A>G	NM_153717.2	NP_714928.1:p.(Asp95Gly)	NC_000004.11:g.5721084A>G	(Likely) benign	3 labs	ccc3ff19f5
16:16259618 ABCC6 G>A	16	16259618	16259618	G	A	ABCC6	c.3168C>T	NM_001171.5	NP_001162.4:p.(Asp1056=)	NC_000016.9:g.16259618G>A	(Likely) benign	2 labs	ccc86bf6b6
14:91787456 CCDC88C C>T	14	91787456	91787456	C	T	CCDC88C	c.1527+8G>A	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91787456C>T	(Likely) benign	2 labs	ccd753fdd4
13:32906890 BRCA2 A>G	13	32906890	32906890	A	G	BRCA2	c.1275A>G	NM_000059.4	NP_000050.3:p.(Glu425=)	NC_000013.10:g.32906890A>G	(Likely) benign	5 labs	ccd0fdfe03
17:14110205 COX10 A>T	17	14110205	14110205	A	T	COX10	c.1007A>T	NM_001303.4	NP_001294.2:p.(Asp336Val)	NC_000017.10:g.14110205A>T	(Likely) pathogenic	3 labs	ccdefeaa2b
2:179481887 TTN T>A	2	179481887	179481887	T	A	TTN	c.47835A>T	NM_001267550.2	NP_001254479.2:p.(Pro15945=)	NC_000002.11:g.179481887T>A	(Likely) benign	2 labs	cce26af898
13:37393518 RFXAP G>A	13	37393518	37393518	G	A	RFXAP	c.24G>A	NM_000538.4	NP_000529.1:p.(Glu8=)	NC_000013.10:g.37393518G>A	(Likely) benign	2 labs	cce76c44c5
10:104387019 SUFU T>C	10	104387019	104387019	T	C	SUFU	c.1365+19T>C	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104387019T>C	(Likely) benign	3 labs	cd0cdf2f34
7:75613092 POR C>T	7	75613092	75613092	C	T	POR	c.984C>T	NM_001367562.1	NP_001354491.1:p.(Ala328=)	NC_000007.13:g.75613092C>T	(Likely) benign	2 labs	cd08a2b168
11:76901189 MYO7A G>A	11	76901189	76901189	G	A	MYO7A	c.3750+5G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76901189G>A	VUS	2 labs	cd0bcd77cb
10:127459094 MMP21 T>C	10	127459094	127459094	T	C	MMP21	c.1046A>G	NM_147191.1	NP_671724.1:p.(Glu349Gly)	NC_000010.10:g.127459094T>C	(Likely) benign	3 labs	cd1010958b
9:138670668 KCNT1 G>A	9	138670668	138670668	G	A	KCNT1	c.2729G>A	NM_020822.3	NP_065873.2:p.(Arg910Gln)	NC_000009.11:g.138670668G>A	(Likely) benign	4 labs	cd135a8358
2:179622569 TTN G>C	2	179622569	179622569	G	C	TTN	c.10303+1142C>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179622569G>C	(Likely) benign	2 labs	cd1741f03e
11:614243 IRF7 C>T	11	614243	614243	C	T	IRF7	c.649G>A	NM_004031.3	NP_004022.2:p.(Asp217Asn)	NC_000011.9:g.614243C>T	(Likely) benign	2 labs	cd18932929
5:118844863 HSD17B4 T>C	5	118844863	118844863	T	C	HSD17B4	c.1361T>C	NM_000414.4	NP_000405.1:p.(Ile454Thr)	NC_000005.9:g.118844863T>C	VUS	3 labs	cd1d6edf35
18:29126235 DSG2 T>G	18	29126235	29126235	T	G	DSG2	c.2886T>G	NM_001943.5	NP_001934.2:p.(Ile962Met)	NC_000018.9:g.29126235T>G	(Likely) benign	4 labs	cd263da7b2
6:152688421 SYNE1 T>C	6	152688421	152688421	T	C	SYNE1	c.9904A>G	NM_182961.3	NP_892006.3:p.(Met3302Val)	NC_000006.11:g.152688421T>C	(Likely) benign	2 labs	cd2c3de0fe
6:138192646 TNFAIP3 G>A	6	138192646	138192646	G	A	TNFAIP3	c.282G>A	NM_001270507.1	NP_001257436.1:p.(Ala94=)	NC_000006.11:g.138192646G>A	(Likely) benign	2 labs	cd2ea3d600
2:26426939 HADHA C>G	2	26426939	26426939	C	G	HADHA	c.1212G>C	NM_000182.4	NP_000173.2:p.(Val404=)	NC_000002.11:g.26426939C>G	(Likely) benign	2 labs	cd3a4095fa
X:54011659 PHF8 C>T	X	54011659	54011659	C	T	PHF8	c.2131G>A	NM_015107.2	NP_055922.1:p.(Glu711Lys)	NC_000023.10:g.54011659C>T	(Likely) benign	2 labs	cd41254f91
2:179410184 TTN C>T	2	179410184	179410184	C	T	TTN	c.95653G>A	NM_001267550.2	NP_001254479.2:p.(Ala31885Thr)	NC_000002.11:g.179410184C>T	(Likely) benign	6 labs	cd58a69327
21:47831845 PCNT G>A	21	47831845	47831845	G	A	PCNT	c.5858G>A	NM_006031.5	NP_006022.3:p.(Arg1953His)	NC_000021.8:g.47831845G>A	(Likely) benign	2 labs	cd4ee90aeb
4:187628248 FAT1 C>T	4	187628248	187628248	C	T	FAT1	c.2734G>A	NM_005245.3	NP_005236.2:p.(Val912Ile)	NC_000004.11:g.187628248C>T	(Likely) benign	2 labs	cd65b553ff
13:39454433 FREM2 C>T	13	39454433	39454433	C	T	FREM2	c.9019C>T	NM_207361.6	NP_997244.4:p.(Arg3007Ter)	NC_000013.10:g.39454433C>T	(Likely) pathogenic	2 labs	cd77adcff3
1:207933011 CD46 A>G	1	207933011	207933011	A	G	CD46	c.417A>G	NM_002389.4	NP_002380.3:p.(Leu139=)	NC_000001.10:g.207933011A>G	(Likely) benign	3 labs	cd804fc948
X:56590942 UBQLN2 G>A	X	56590942	56590942	G	A	UBQLN2	c.636G>A	NM_013444.4	NP_038472.2:p.(Gln212=)	NC_000023.10:g.56590942G>A	(Likely) benign	2 labs	cd73fe4f7c
13:110823002 COL4A1 T>A	13	110823002	110823002	T	A	COL4A1	c.3634A>T	NM_001845.5	NP_001836.3:p.(Met1212Leu)	NC_000013.10:g.110823002T>A	(Likely) benign	2 labs	cd83320502
1:152282941 FLG C>T	1	152282941	152282941	C	T	FLG	c.4421G>A	NM_002016.1	NP_002007.1:p.(Arg1474Gln)	NC_000001.10:g.152282941C>T	(Likely) benign	2 labs	cd85e83929
17:54912191 DGKE C>T	17	54912191	54912191	C	T	DGKE	c.35C>T	NM_003647.2	NP_003638.1:p.(Pro12Leu)	NC_000017.10:g.54912191C>T	(Likely) benign	2 labs	cd8b0763bd
13:39262041 FREM2 C>T	13	39262041	39262041	C	T	FREM2	c.560C>T	NM_207361.5	NP_997244.4:p.(Pro187Leu)	NC_000013.10:g.39262041C>T	VUS	2 labs	cd8d2f4d4d
2:179441479 TTN C>T	2	179441479	179441479	C	T	TTN	c.69492G>A	NM_001267550.2	NP_001254479.2:p.(Val23164=)	NC_000002.11:g.179441479C>T	(Likely) benign	2 labs	cd84a81ca7
1:218614698 TGFB2 C>T	1	218614698	218614698	C	T	TGFB2	c.1323C>T	NM_001135599.3	NP_001129071.1:p.(Cys441=)	NC_000001.10:g.218614698C>T	(Likely) benign	3 labs	cd98c5f48b
17:18058468 MYO15A G>A	17	18058468	18058468	G	A	MYO15A	c.8269G>A	NM_016239.3	NP_057323.3:p.(Val2757Met)	NC_000017.10:g.18058468G>A	(Likely) benign	2 labs	cd9945616b
3:142277536 ATR A>G	3	142277536	142277536	A	G	ATR	c.1815T>C	NM_001184.4	NP_001175.2:p.(Asp605=)	NC_000003.11:g.142277536A>G	(Likely) benign	2 labs	cdab0d4567
13:20763492 GJB2 A>G	13	20763492	20763492	A	G	GJB2	c.229T>C	NM_004004.6	NP_003995.2:p.(Trp77Arg)	NC_000013.10:g.20763492A>G	(Likely) pathogenic	2 labs	cdabf42189
22:19028650 DGCR2 C>T	22	19028650	19028650	C	T	DGCR2	c.1317G>A	NM_005137.3	NP_005128.1:p.(Pro439=)	NC_000022.10:g.19028650C>T	(Likely) benign	2 labs	cda512edbe
17:29533351 NF1 C>T	17	29533351	29533351	C	T	NF1	c.1354C>T	NM_000267.3	NP_000258.1:p.(Gln452Ter)	NC_000017.10:g.29533351C>T	(Likely) pathogenic	2 labs	cdb1648cf9
14:105412778 AHNAK2 A>T	14	105412778	105412778	A	T	AHNAK2	c.9010T>A	NM_138420.3	NP_612429.2:p.(Ser3004Thr)	NC_000014.8:g.105412778A>T	(Likely) benign	2 labs	cdc93c8a08
2:163130342 IFIH1 C>T	2	163130342	163130342	C	T	IFIH1	c.2417G>A	NM_022168.4	NP_071451.2:p.(Arg806His)	NC_000002.11:g.163130342C>T	VUS	3 labs	cde2f890f2
1:240371304 FMN2 T>C	1	240371304	240371304	T	C	FMN2	c.3204T>C	NM_001305424.2	NP_001292353.1:p.(Pro1068=)	NC_000001.10:g.240371304T>C	(Likely) benign	2 labs	cde18b0c4f
10:104159215 NFKB2 C>T	10	104159215	104159215	C	T	NFKB2	c.1288C>T	NM_001077494.3	NP_001070962.1:p.(Pro430Ser)	NC_000010.10:g.104159215C>T	(Likely) benign	2 labs	cde8641aa1
20:8698451 PLCB1 A>G	20	8698451	8698451	A	G	PLCB1	c.1469A>G	NM_182734.2	NP_877398.1:p.(Tyr490Cys)	NC_000020.10:g.8698451A>G	(Likely) benign	2 labs	cdee1bfff9
6:129722454 LAMA2 G>A	6	129722454	129722454	G	A	LAMA2	c.5531G>A	NM_000426.3	NP_000417.2:p.(Arg1844His)	NC_000006.11:g.129722454G>A	(Likely) benign	2 labs	cdee6b8d70
4:155489608 FGB C>T	4	155489608	155489608	C	T	FGB	c.794C>T	NM_005141.4	NP_005132.2:p.(Pro265Leu)	NC_000004.11:g.155489608C>T	VUS	3 labs	ce0c07c8c8
9:101558581 ANKS6 C>A	9	101558581	101558581	C	A	ANKS6	c.193G>T	NM_173551.4	NP_775822.3:p.(Val65Phe)	NC_000009.11:g.101558581C>A	(Likely) benign	2 labs	ce0ec14923
13:60545105 DIAPH3 G>T	13	60545105	60545105	G	T	DIAPH3	c.1840C>A	NM_001042517.1	NP_001035982.1:p.(Pro614Thr)	NC_000013.10:g.60545105G>T	(Likely) benign	2 labs	ce13332fb9
3:142269106 ATR T>G	3	142269106	142269106	T	G	ATR	c.2844A>C	NM_001184.3	NP_001175.2:p.(Ala948=)	NC_000003.11:g.142269106T>G	(Likely) benign	2 labs	ce148a49c0
14:31355389 COCH A>G	14	31355389	31355389	A	G	COCH	c.1348A>G	NM_001135058.1	NP_001128530.1:p.(Ile450Val)	NC_000014.8:g.31355389A>G	(Likely) benign	2 labs	ce16557856
8:41790782 KAT6A T>C	8	41790782	41790782	T	C	KAT6A	c.4956A>G	NM_006766.4	NP_006757.2:p.(Pro1652=)	NC_000008.10:g.41790782T>C	(Likely) benign	2 labs	ce1a0cf46b
7:103629803 RELN T>TGCCGCCGCCGCCGCC	7	103629803	103629829	T	TGCCGCCGCCGCCGCC	RELN	c.-15_-1dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629815_103629829dup	(Likely) benign	2 labs	ce4293a299
13:32913919 BRCA2 C>T	13	32913919	32913919	C	T	BRCA2	c.5427C>T	NM_000059.3	NP_000050.2:p.(Cys1809=)	NC_000013.10:g.32913919C>T	(Likely) benign	3 labs	ce4c2fffe8
20:49551779 DPM1 T>TA	20	49551779	49551780	T	TA	DPM1	c.679-7_679-6insT	NM_003859.2	NP_003850.1:p.?	NC_000020.10:g.49551779_49551780insA	(Likely) benign	2 labs	ce4f2edd5d
3:148878015 HPS3 G>A	3	148878015	148878015	G	A	HPS3	c.2055G>A	NM_032383.5	NP_115759.2:p.(Leu685=)	NC_000003.11:g.148878015G>A	(Likely) benign	2 labs	ce4df61f14
X:38182653 RPGR G>A	X	38182653	38182653	G	A	RPGR	c.153C>T	NM_001034853.1	NP_001030025.1:p.(Thr51=)	NC_000023.10:g.38182653G>A	(Likely) benign	2 labs	ce5269e481
1:235969679 LYST C>T	1	235969679	235969679	C	T	LYST	c.2757G>A	NM_001301365.1	NP_001288294.1:p.(Ser919=)	NC_000001.10:g.235969679C>T	(Likely) benign	2 labs	ce59ca5a65
19:46269362 SIX5 G>A	19	46269362	46269362	G	A	SIX5	c.1617C>T	NM_175875.4	NP_787071.2:p.(Phe539=)	NC_000019.9:g.46269362G>A	(Likely) benign	2 labs	ce5b0a7e61
16:50733859 NOD2 C>G	16	50733859	50733859	C	G	NOD2	c.534C>G	NM_022162.1	NP_071445.1:p.(Ser178=)	NC_000016.9:g.50733859C>G	(Likely) benign	2 labs	ce6df55a99
1:11854086 MTHFR C>G	1	11854086	11854086	C	G	MTHFR	c.1531G>C	NM_001330358.2	NP_001317287.1:p.(Glu511Gln)	NC_000001.10:g.11854086C>G	VUS	2 labs	ce7ca85017
19:11362868 DOCK6 C>T	19	11362868	11362868	C	T	DOCK6	c.434G>A	NM_020812.3	NP_065863.2:p.(Arg145Gln)	NC_000019.9:g.11362868C>T	(Likely) benign	2 labs	ce7c089936
1:43392819 SLC2A1 G>T	1	43392819	43392819	G	T	SLC2A1	c.1372C>A	NM_006516.3	NP_006507.2:p.(Arg458=)	NC_000001.10:g.43392819G>T	(Likely) benign	2 labs	ce7ed0f462
8:6302106 MCPH1 C>A	8	6302106	6302106	C	A	MCPH1	c.863C>A	NM_024596.4	NP_078872.2:p.(Pro288His)	NC_000008.10:g.6302106C>A	(Likely) benign	2 labs	ce8f611abd
16:2168390 PKD1 G>A	16	2168390	2168390	G	A	PKD1	c.603C>T	NM_001009944.2	NP_001009944.2:p.(His201=)	NC_000016.9:g.2168390G>A	(Likely) benign	3 labs	ce90bd64c1
2:228172571 COL4A3 A>C	2	228172571	228172571	A	C	COL4A3	c.4398A>C	NM_000091.4	NP_000082.2:p.(Pro1466=)	NC_000002.11:g.228172571A>C	(Likely) benign	2 labs	ce9279fc8d
8:87641271 CNGB3 C>T	8	87641271	87641271	C	T	CNGB3	c.1356G>A	NM_019098.4	NP_061971.3:p.(Gln452=)	NC_000008.10:g.87641271C>T	(Likely) benign	2 labs	ce94e82ea9
3:63981977 ATXN7 A>G	3	63981977	63981977	A	G	ATXN7	c.2479A>G	NM_000333.4	NP_000324.1:p.(Thr827Ala)	NC_000003.11:g.63981977A>G	(Likely) benign	2 labs	ce989ca8b7
15:85402610 ALPK3 G>A	15	85402610	85402610	G	A	ALPK3	c.3954G>A	NM_020778.5	NP_065829.4:p.(Glu1318=)	NC_000015.9:g.85402610G>A	(Likely) benign	2 labs	ce9ab86650
1:22188296 HSPG2 G>A	1	22188296	22188296	G	A	HSPG2	c.4912C>T	NM_001291860.1	NP_001278789.1:p.(Arg1638Cys)	NC_000001.10:g.22188296G>A	VUS	2 labs	cea1761486
19:42854337 MEGF8 C>T	19	42854337	42854337	C	T	MEGF8	c.2537C>T	NM_001271938.2	NP_001258867.1:p.(Ser846Leu)	NC_000019.9:g.42854337C>T	(Likely) benign	2 labs	ceb3d8b7ed
17:56291758 MKS1 A>G	17	56291758	56291758	A	G	MKS1	c.516-10T>C	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56291758A>G	(Likely) benign	3 labs	ceb5d42cb5
5:82833426 VCAN A>G	5	82833426	82833426	A	G	VCAN	c.4604A>G	NM_004385.5	NP_004376.2:p.(Glu1535Gly)	NC_000005.9:g.82833426A>G	(Likely) benign	3 labs	ceb7bbd517
13:111090991 COL4A2 A>G	13	111090991	111090991	A	G	COL4A2	c.888A>G	NM_001846.3	NP_001837.2:p.(Gly296=)	NC_000013.10:g.111090991A>G	(Likely) benign	2 labs	cebbd3ad61
11:70333699 SHANK2 G>A	11	70333699	70333699	G	A	SHANK2	c.2699C>T	NM_012309.5	NP_036441.2:p.(Pro900Leu)	NC_000011.9:g.70333699G>A	VUS	2 labs	cec1b7c2b9
14:102446161 DYNC1H1 G>A	14	102446161	102446161	G	A	DYNC1H1	c.624G>A	NM_001376.5	NP_001367.2:p.(Pro208=)	NC_000014.8:g.102446161G>A	(Likely) benign	3 labs	cec68c691e
2:166221706 SCN2A C>T	2	166221706	166221706	C	T	SCN2A	c.3453C>T	NM_021007.2	NP_066287.2:p.(Pro1151=)	NC_000002.11:g.166221706C>T	(Likely) benign	2 labs	cedb6ab8eb
13:32953604 BRCA2 G>A	13	32953604	32953604	G	A	BRCA2	c.8905G>A	NM_000059.4	NP_000050.3:p.(Val2969Met)	NC_000013.10:g.32953604G>A	(Likely) benign	4 labs	cecf8f6e75
4:103560962 MANBA C>T	4	103560962	103560962	C	T	MANBA	c.1922G>A	NM_005908.3	NP_005899.3:p.(Arg641His)	NC_000004.11:g.103560962C>T	VUS	2 labs	cee5485f29
1:154570312 ADAR A>G	1	154570312	154570312	A	G	ADAR	c.1041T>C	NM_001193495.2	NP_001180424.1:p.(His347=)	NC_000001.10:g.154570312A>G	(Likely) benign	3 labs	cef6bb33da
1:1420466 ATAD3B T>A	1	1420466	1420466	T	A	ATAD3B	c.821T>A	NM_031921.5	NP_114127.3:p.(Phe274Tyr)	NC_000001.10:g.1420466T>A	(Likely) benign	2 labs	cef0566348
20:10623266 JAG1 T>G	20	10623266	10623266	T	G	JAG1	c.2459-17A>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10623266T>G	(Likely) benign	2 labs	cef018ac26
2:179517090 TTN T>C	2	179517090	179517090	T	C	TTN	c.39128-16A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517090T>C	(Likely) benign	2 labs	cef906c5cf
18:2920357 LPIN2 C>T	18	2920357	2920357	C	T	LPIN2	c.2625G>A	NM_014646.2	NP_055461.1:p.(Pro875=)	NC_000018.9:g.2920357C>T	(Likely) benign	2 labs	cefb3dcd54
12:33030842 PKP2 C>T	12	33030842	33030842	C	T	PKP2	c.972G>A	NM_004572.4	NP_004563.2:p.(Ala324=)	NC_000012.11:g.33030842C>T	(Likely) benign	3 labs	cefd71177d
7:94052428 COL1A2 G>A	7	94052428	94052428	G	A	COL1A2	c.2563G>A	NM_000089.3	NP_000080.2:p.(Ala855Thr)	NC_000007.13:g.94052428G>A	(Likely) benign	2 labs	cf090886e1
2:172671648 SLC25A12 A>C	2	172671648	172671648	A	C	SLC25A12	c.995T>G	NM_003705.4	NP_003696.2:p.(Leu332Arg)	NC_000002.11:g.172671648A>C	VUS	2 labs	cf0ebc72b5
16:89986614 MC1R C>T	16	89986614	89986614	C	T	MC1R	c.948C>T	NM_002386.4	NP_002377.4:p.(Ser316=)	NC_000016.9:g.89986614C>T	(Likely) benign	2 labs	cf0bf16ef6
11:118897326 SLC37A4 C>T	11	118897326	118897326	C	T	SLC37A4	c.857G>A	NM_001164277.2	NP_001157749.1:p.(Arg286Gln)	NC_000011.9:g.118897326C>T	VUS	2 labs	cf196826d7
9:137622162 COL5A1 C>T	9	137622162	137622162	C	T	COL5A1	c.1005C>T	NM_000093.4	NP_000084.3:p.(Ile335=)	NC_000009.11:g.137622162C>T	(Likely) benign	2 labs	cf1e13503f
12:49578944 TUBA1A C>T	12	49578944	49578944	C	T	TUBA1A	c.1205G>A	NM_006009.3	NP_006000.2:p.(Arg402His)	NC_000012.11:g.49578944C>T	(Likely) pathogenic	2 labs	cf20211c43
22:38109353 TRIOBP G>A	22	38109353	38109353	G	A	TRIOBP	c.391G>A	NM_001039141.3	NP_001034230.1:p.(Gly131Ser)	NC_000022.10:g.38109353G>A	(Likely) benign	2 labs	cf20751a7c
5:156670753 ITK G>A	5	156670753	156670753	G	A	ITK	c.1181G>A	NM_005546.3	NP_005537.3:p.(Arg394Gln)	NC_000005.9:g.156670753G>A	(Likely) benign	2 labs	cf25d493c2
1:44202061 ST3GAL3 G>C	1	44202061	44202061	G	C	ST3GAL3	c.128G>C	NM_001350619.1	NP_001337548.1:p.(Ser43Thr)	NC_000001.10:g.44202061G>C	(Likely) benign	2 labs	cf295fee61
21:45941817 TSPEAR C>T	21	45941817	45941817	C	T	TSPEAR	c.1311G>A	NM_001272037.1	NP_001258966.1:p.(Ser437=)	NC_000021.8:g.45941817C>T	(Likely) benign	2 labs	cf2f346eaf
13:110960474 COL4A2 A>G	13	110960474	110960474	A	G	COL4A2	c.99+4A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.110960474A>G	(Likely) benign	3 labs	cf350b0287
5:178408685 GRM6 C>T	5	178408685	178408685	C	T	GRM6	c.2607G>A	NM_000843.4	NP_000834.2:p.(Lys869=)	NC_000005.9:g.178408685C>T	(Likely) benign	2 labs	cf32b642bb
4:6303354 WFS1 G>A	4	6303354	6303354	G	A	WFS1	c.1832G>A	NM_006005.3	NP_005996.2:p.(Arg611His)	NC_000004.11:g.6303354G>A	(Likely) benign	3 labs	cf38a65ad0
17:41244815 BRCA1 T>C	17	41244815	41244815	T	C	BRCA1	c.2733A>G	NM_007294.4	NP_009225.1:p.(Gly911=)	NC_000017.10:g.41244815T>C	(Likely) benign	5 labs	cf3f63b4e1
17:41215963 BRCA1 C>A	17	41215963	41215963	C	A	BRCA1	c.5080G>T	NM_007294.4	NP_009225.1:p.(Glu1694Ter)	NC_000017.10:g.41215963C>A	(Likely) pathogenic	3 labs	cf4c63fcdc
16:75590122 TMEM231 G>A	16	75590122	75590122	G	A	TMEM231	c.48C>T	NM_001077416.2	NP_001070884.2:p.(Ala16=)	NC_000016.9:g.75590122G>A	(Likely) benign	2 labs	cf4e390cb9
15:45658681 GATM T>C	15	45658681	45658681	T	C	GATM	c.314A>G	NM_001321015.1	NP_001307944.1:p.(Asp105Gly)	NC_000015.9:g.45658681T>C	VUS	2 labs	cf63bdb048
9:134385736 POMT1 G>C	9	134385736	134385736	G	C	POMT1	c.693G>C	NM_001353198.1	NP_001340127.1:p.(Leu231Phe)	NC_000009.11:g.134385736G>C	VUS	2 labs	cf63f4b3dd
2:163124024 IFIH1 G>C	2	163124024	163124024	G	C	IFIH1	c.2863C>G	NM_022168.4	NP_071451.2:p.(Gln955Glu)	NC_000002.11:g.163124024G>C	(Likely) benign	3 labs	cf6c7a4392
1:216424303 USH2A A>G	1	216424303	216424303	A	G	USH2A	c.2109T>C	NM_206933.2	NP_996816.2:p.(Asp703=)	NC_000001.10:g.216424303A>G	(Likely) benign	2 labs	cf6d4949dd
2:219920308 IHH G>A	2	219920308	219920308	G	A	IHH	c.857C>T	NM_002181.3	NP_002172.2:p.(Pro286Leu)	NC_000002.11:g.219920308G>A	(Likely) benign	2 labs	cf7116168f
19:33882228 PEPD G>A	19	33882228	33882228	G	A	PEPD	c.1125C>T	NM_000285.3	NP_000276.2:p.(Asp375=)	NC_000019.9:g.33882228G>A	(Likely) benign	2 labs	cf75f6c889
10:21157673 NEBL C>T	10	21157673	21157673	C	T	NEBL	c.604G>A	NM_006393.2	NP_006384.1:p.(Gly202Arg)	NC_000010.10:g.21157673C>T	(Likely) benign	2 labs	cf76a92ad7
9:123737203 C5 T>C	9	123737203	123737203	T	C	C5	c.3871A>G	NM_001735.3	NP_001726.2:p.(Ile1291Val)	NC_000009.11:g.123737203T>C	(Likely) benign	2 labs	cf77959652
5:122506560 PRDM6 C>T	5	122506560	122506560	C	T	PRDM6	c.1254C>T	NM_001136239.3	NP_001129711.1:p.(Ser418=)	NC_000005.9:g.122506560C>T	(Likely) benign	2 labs	cf7cc9fee5
7:103183202 RELN C>T	7	103183202	103183202	C	T	RELN	c.6647G>A	NM_005045.4	NP_005036.2:p.(Arg2216Gln)	NC_000007.13:g.103183202C>T	VUS	2 labs	cf815c9e45
9:135786099 TSC1 CAT>C	9	135786099	135786105	CAT	C	TSC1	c.1142-22_1142-21del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135786104_135786105del	(Likely) benign	2 labs	cf923799a3
12:103249094 PAH G>A	12	103249094	103249094	G	A	PAH	c.526C>T	NM_000277.1	NP_000268.1:p.(Arg176Ter)	NC_000012.11:g.103249094G>A	(Likely) pathogenic	3 labs	cfa0b55427
19:13319575 CACNA1A G>A	19	13319575	13319575	G	A	CACNA1A	c.6793C>T	NM_023035.2	NP_075461.2:p.(Arg2265Trp)	NC_000019.9:g.13319575G>A	VUS	2 labs	cfa4ad4902
15:67473668 SMAD3 G>A	15	67473668	67473668	G	A	SMAD3	c.748G>A	NM_005902.3	NP_005893.1:p.(Ala250Thr)	NC_000015.9:g.67473668G>A	VUS	2 labs	cfa6b10359
17:37822168 TCAP G>A	17	37822168	37822168	G	A	TCAP	c.310G>A	NM_003673.3	NP_003664.1:p.(Glu104Lys)	NC_000017.10:g.37822168G>A	VUS	2 labs	cfab62eec0
X:129200878 ELF4 G>A	X	129200878	129200878	G	A	ELF4	c.1810C>T	NM_001421.3	NP_001412.1:p.(Arg604Cys)	NC_000023.10:g.129200878G>A	(Likely) benign	2 labs	cfac0dc72c
16:88904086 GALNS A>G	16	88904086	88904086	A	G	GALNS	c.510T>C	NM_000512.4	NP_000503.1:p.(Tyr170=)	NC_000016.9:g.88904086A>G	(Likely) benign	2 labs	cfb0f93277
9:136218943 SURF1 T>A	9	136218943	136218943	T	A	SURF1	c.806A>T	NM_003172.3	NP_003163.1:p.(Asn269Ile)	NC_000009.11:g.136218943T>A	VUS	2 labs	cfb4c2bfa0
7:117304761 CFTR T>C	7	117304761	117304761	T	C	CFTR	c.3983T>C	NM_000492.3	NP_000483.3:p.(Ile1328Thr)	NC_000007.13:g.117304761T>C	VUS	2 labs	cfb78b15b7
16:3860674 CREBBP C>T	16	3860674	3860674	C	T	CREBBP	c.905G>A	NM_004380.2	NP_004371.2:p.(Ser302Asn)	NC_000016.9:g.3860674C>T	(Likely) benign	2 labs	cfb9cf63bc
X:106396459 NUP62CL G>A	X	106396459	106396459	G	A	NUP62CL	c.473C>T	NM_017681.2	NP_060151.2:p.(Thr158Met)	NC_000023.10:g.106396459G>A	(Likely) benign	2 labs	cfbb1cd0e8
6:51907901 PKHD1 G>A	6	51907901	51907901	G	A	PKHD1	c.2853C>T	NM_138694.3	NP_619639.3:p.(Thr951=)	NC_000006.11:g.51907901G>A	(Likely) benign	3 labs	cfbc032299
1:240371462 FMN2 G>T	1	240371462	240371462	G	T	FMN2	c.3350G>T	NM_020066.5	NP_064450.3:p.(Gly1117Val)	NC_000001.10:g.240371462G>T	(Likely) benign	2 labs	cfc0c598a2
11:102980324 DYNC2H1 C>T	11	102980324	102980324	C	T	DYNC2H1	c.21C>T	NM_001080463.1	NP_001073932.1:p.(Asp7=)	NC_000011.9:g.102980324C>T	(Likely) benign	2 labs	cfcbe18ac9
4:110681491 CFI GGA>G	4	110681491	110681493	GGA	G	CFI	c.816_817del	NM_000204.5	NP_000195.3:p.(Pro273LysfsTer8)	NC_000004.11:g.110681492_110681493del	(Likely) pathogenic	2 labs	cfce23617f
18:12370930 AFG3L2 T>G	18	12370930	12370930	T	G	AFG3L2	c.215-5A>C	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12370930T>G	(Likely) benign	2 labs	cfd6352857
4:110221801 COL25A1 T>C	4	110221801	110221801	T	C	COL25A1	c.305A>G	NM_198721.3	NP_942014.1:p.(Tyr102Cys)	NC_000004.11:g.110221801T>C	VUS	2 labs	cfdceb5f40
17:18670143 FBXW10 G>A	17	18670143	18670143	G	A	FBXW10	c.1672G>A	NM_001267585.1	NP_001254514.1:p.(Val558Met)	NC_000017.10:g.18670143G>A	VUS	2 labs	cfe08e33cf
10:81318680 SFTPA2 C>T	10	81318680	81318680	C	T	SFTPA2	c.254G>A	NM_001098668.3	NP_001092138.1:p.(Arg85His)	NC_000010.10:g.81318680C>T	(Likely) benign	2 labs	cfe1c6a15a
7:21599233 DNAH11 C>T	7	21599233	21599233	C	T	DNAH11	c.705C>T	NM_001277115.2	NP_001264044.1:p.(Asn235=)	NC_000007.13:g.21599233C>T	(Likely) benign	2 labs	d00bb763cc
7:91851368 KRIT1 C>G	7	91851368	91851368	C	G	KRIT1	c.1412-1G>C	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91851368C>G	(Likely) pathogenic	2 labs	d0070b5a8e
13:20763294 GJB2 G>A	13	20763294	20763294	G	A	GJB2	c.427C>T	NM_004004.6	NP_003995.2:p.(Arg143Trp)	NC_000013.10:g.20763294G>A	(Likely) pathogenic	2 labs	d00b1386f6
X:152958531 SLC6A8 C>T	X	152958531	152958531	C	T	SLC6A8	c.813C>T	NM_005629.3	NP_005620.1:p.(Val271=)	NC_000023.10:g.152958531C>T	(Likely) benign	2 labs	d0122fc975
3:129290532 PLXND1 C>T	3	129290532	129290532	C	T	PLXND1	c.3233G>A	NM_015103.2	NP_055918.2:p.(Arg1078His)	NC_000003.11:g.129290532C>T	VUS	2 labs	d013d9d6fc
19:16593348 CALR3 G>A	19	16593348	16593348	G	A	CALR3	c.831C>T	NM_145046.5	NP_659483.2:p.(His277=)	NC_000019.9:g.16593348G>A	(Likely) benign	2 labs	d0336f4eea
10:96322448 HELLS G>A	10	96322448	96322448	G	A	HELLS	c.334G>A	NM_001289067.1	NP_001275996.1:p.(Gly112Ser)	NC_000010.10:g.96322448G>A	(Likely) benign	2 labs	d0553d140b
6:42932102 PEX6 G>A	6	42932102	42932102	G	A	PEX6	c.2914C>T	NM_000287.3	NP_000278.3:p.(Arg972Cys)	NC_000006.11:g.42932102G>A	VUS	2 labs	d05b0e23e1
16:68713864 CDH3 G>T	16	68713864	68713864	G	T	CDH3	c.854G>T	NM_001793.5	NP_001784.2:p.(Gly285Val)	NC_000016.9:g.68713864G>T	VUS	2 labs	d05e07c31b
7:6038722 PMS2 T>C	7	6038722	6038722	T	C	PMS2	c.705+17A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6038722T>C	(Likely) benign	4 labs	d0651d0c06
9:136307527 ADAMTS13 G>A	9	136307527	136307527	G	A	ADAMTS13	c.1976G>A	NM_139025.4	NP_620594.1:p.(Arg659Lys)	NC_000009.11:g.136307527G>A	VUS	2 labs	d0682faa4e
1:215808003 USH2A C>T	1	215808003	215808003	C	T	USH2A	c.15095G>A	NM_206933.2	NP_996816.2:p.(Ser5032Asn)	NC_000001.10:g.215808003C>T	VUS	2 labs	d06beeb32a
15:85188994 WDR73 T>C	15	85188994	85188994	T	C	WDR73	c.591A>G	NM_032856.3	NP_116245.2:p.(Ser197=)	NC_000015.9:g.85188994T>C	(Likely) benign	2 labs	d072d49c95
21:46929529 COL18A1 C>G	21	46929529	46929529	C	G	COL18A1	c.4026+14C>G	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46929529C>G	(Likely) benign	2 labs	d07073223b
X:70384072 NLGN3 C>T	X	70384072	70384072	C	T	NLGN3	c.807C>T	NM_181303.1	NP_851820.1:p.(Ser269=)	NC_000023.10:g.70384072C>T	(Likely) benign	2 labs	d07e96a735
1:3301867 PRDM16 A>G	1	3301867	3301867	A	G	PRDM16	c.573+17A>G	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301867A>G	(Likely) benign	3 labs	d074f0389f
11:6662659 DCHS1 G>A	11	6662659	6662659	G	A	DCHS1	c.186C>T	NM_003737.4	NP_003728.1:p.(Gly62=)	NC_000011.9:g.6662659G>A	(Likely) benign	2 labs	d083f021f7
2:215617247 BARD1 G>A	2	215617247	215617247	G	A	BARD1	c.1544C>T	NM_001282543.1	NP_001269472.1:p.(Thr515Ile)	NC_000002.11:g.215617247G>A	VUS	2 labs	d085af17e4
3:121500697 IQCB1 G>A	3	121500697	121500697	G	A	IQCB1	c.1303C>T	NM_001023570.3	NP_001018864.2:p.(Arg435Cys)	NC_000003.11:g.121500697G>A	(Likely) benign	2 labs	d095c0b8f3
19:12774537 MAN2B1 G>A	19	12774537	12774537	G	A	MAN2B1	c.743C>T	NM_000528.3	NP_000519.2:p.(Pro248Leu)	NC_000019.9:g.12774537G>A	(Likely) benign	3 labs	d096019abc
19:1218523 STK11 G>T	19	1218523	1218523	G	T	STK11	c.374+24G>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1218523G>T	(Likely) benign	3 labs	d0a5609707
3:9985750 CRELD1 C>G	3	9985750	9985750	C	G	CRELD1	c.1213C>G	NM_001031717.3	NP_001026887.1:p.(Gln405Glu)	NC_000003.11:g.9985750C>G	(Likely) benign	3 labs	d0a7d7ffe7
18:52921779 TCF4 C>T	18	52921779	52921779	C	T	TCF4	c.1299G>A	NM_001083962.1	NP_001077431.1:p.(Leu433=)	NC_000018.9:g.52921779C>T	(Likely) benign	2 labs	d0aa6bc4e5
13:32905140 BRCA2 ACAAAT>A	13	32905140	32905149	ACAAAT	A	BRCA2	c.771_775del	NM_000059.4	NP_000050.3:p.(Asn257LysfsTer17)	NC_000013.10:g.32905145_32905149del	(Likely) pathogenic	4 labs	d0b9f1e9e8
16:1614097 IFT140 A>G	16	1614097	1614097	A	G	IFT140	c.1968T>C	NM_014714.4	NP_055529.2:p.(Ser656=)	NC_000016.9:g.1614097A>G	(Likely) benign	2 labs	d0be147ef8
11:124765797 ROBO4 A>T	11	124765797	124765797	A	T	ROBO4	c.691T>A	NM_019055.5	NP_061928.4:p.(Tyr231Asn)	NC_000011.9:g.124765797A>T	(Likely) benign	2 labs	d0bbe24090
5:89925235 ADGRV1 G>T	5	89925235	89925235	G	T	ADGRV1	c.1718G>T	NM_032119.4	NP_115495.3:p.(Gly573Val)	NC_000005.9:g.89925235G>T	VUS	3 labs	d0cad62adb
22:41573735 EP300 A>G	22	41573735	41573735	A	G	EP300	c.6020A>G	NM_001429.4	NP_001420.2:p.(Gln2007Arg)	NC_000022.10:g.41573735A>G	VUS	3 labs	d0cd2a942d
16:81925132 PLCG2 C>T	16	81925132	81925132	C	T	PLCG2	c.923C>T	NM_002661.3	NP_002652.2:p.(Ala308Val)	NC_000016.9:g.81925132C>T	(Likely) benign	2 labs	d0cf343f5a
2:71896835 DYSF G>A	2	71896835	71896835	G	A	DYSF	c.5740G>A	NM_001130981.1	NP_001124453.1:p.(Asp1914Asn)	NC_000002.11:g.71896835G>A	(Likely) benign	4 labs	d0d7f92e47
14:102964447 TECPR2 G>A	14	102964447	102964447	G	A	TECPR2	c.4089G>A	NM_014844.4	NP_055659.2:p.(Ala1363=)	NC_000014.8:g.102964447G>A	(Likely) benign	2 labs	d0d8acdb25
8:133883593 TG G>T	8	133883593	133883593	G	T	TG	c.275G>T	NM_003235.5	NP_003226.4:p.(Cys92Phe)	NC_000008.10:g.133883593G>T	VUS	2 labs	d0d983e3b6
1:5934587 NPHP4 C>T	1	5934587	5934587	C	T	NPHP4	c.3175G>A	NM_015102.4	NP_055917.1:p.(Ala1059Thr)	NC_000001.10:g.5934587C>T	(Likely) benign	2 labs	d0f21d963f
1:196965240 CFHR5 C>T	1	196965240	196965240	C	T	CFHR5	c.879C>T	NM_030787.3	NP_110414.1:p.(Val293=)	NC_000001.10:g.196965240C>T	(Likely) benign	3 labs	d0f48397f2
1:11190804 MTOR C>T	1	11190804	11190804	C	T	MTOR	c.5395G>A	NM_004958.4	NP_004949.1:p.(Glu1799Lys)	NC_000001.10:g.11190804C>T	(Likely) pathogenic	4 labs	d0eaa5b7c6
10:73539148 CDH23 G>A	10	73539148	73539148	G	A	CDH23	c.5312G>A	NM_022124.5	NP_071407.4:p.(Arg1771Gln)	NC_000010.10:g.73539148G>A	(Likely) benign	2 labs	d101da955e
22:37325775 CSF2RB G>A	22	37325775	37325775	G	A	CSF2RB	c.644G>A	NM_000395.2	NP_000386.1:p.(Arg215His)	NC_000022.10:g.37325775G>A	(Likely) benign	2 labs	d10d2e4291
20:10386059 MKKS G>A	20	10386059	10386059	G	A	MKKS	c.1549C>T	NM_018848.3	NP_061336.1:p.(Arg517Cys)	NC_000020.10:g.10386059G>A	(Likely) benign	3 labs	d12725b230
8:145741960 RECQL4 C>T	8	145741960	145741960	C	T	RECQL4	c.543G>A	NM_004260.4	NP_004251.4:p.(Gln181=)	NC_000008.10:g.145741960C>T	(Likely) benign	3 labs	d131ec8232
10:97373555 ALDH18A1 C>T	10	97373555	97373555	C	T	ALDH18A1	c.1867G>A	NM_001323413.1	NP_001310342.1:p.(Asp623Asn)	NC_000010.10:g.97373555C>T	VUS	2 labs	d13acdcee0
2:47635645 MSH2 G>A	2	47635645	47635645	G	A	MSH2	c.317G>A	NM_000251.2	NP_000242.1:p.(Arg106Lys)	NC_000002.11:g.47635645G>A	(Likely) benign	2 labs	d145747953
X:48895835 TFE3 C>T	X	48895835	48895835	C	T	TFE3	c.667G>A	NM_006521.5	NP_006512.2:p.(Ala223Thr)	NC_000023.10:g.48895835C>T	(Likely) benign	2 labs	d15914c8ea
X:13775774 OFD1 C>T	X	13775774	13775774	C	T	OFD1	c.992-5C>T	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13775774C>T	(Likely) benign	2 labs	d1591b67cb
2:166740469 TTC21B A>C	2	166740469	166740469	A	C	TTC21B	c.3519T>G	NM_024753.4	NP_079029.3:p.(Thr1173=)	NC_000002.11:g.166740469A>C	(Likely) benign	2 labs	d1594074e7
10:73437293 CDH23 C>T	10	73437293	73437293	C	T	CDH23	c.1595C>T	NM_022124.5	NP_071407.4:p.(Thr532Met)	NC_000010.10:g.73437293C>T	VUS	2 labs	d163a8b20c
2:227973576 COL4A4 C>T	2	227973576	227973576	C	T	COL4A4	c.666G>A	NM_000092.4	NP_000083.3:p.(Pro222=)	NC_000002.11:g.227973576C>T	(Likely) benign	3 labs	d165e75d43
17:11725798 DNAH9 G>A	17	11725798	11725798	G	A	DNAH9	c.8894G>A	NM_001372.3	NP_001363.2:p.(Arg2965His)	NC_000017.10:g.11725798G>A	VUS	2 labs	d166759734
22:36685292 MYH9 G>A	22	36685292	36685292	G	A	MYH9	c.4396C>T	NM_002473.6	NP_002464.1:p.(Arg1466Trp)	NC_000022.10:g.36685292G>A	(Likely) benign	4 labs	d16d27600e
10:70587497 STOX1 T>C	10	70587497	70587497	T	C	STOX1	c.117T>C	NM_152709.5	NP_689922.3:p.(Ala39=)	NC_000010.10:g.70587497T>C	(Likely) benign	2 labs	d1688a6653
8:55534671 RP1 T>C	8	55534671	55534671	T	C	RP1	c.616-6T>C	NM_006269.2	NP_006260.1:p.?	NC_000008.10:g.55534671T>C	(Likely) benign	3 labs	d170635ff1
X:13778657 OFD1 G>A	X	13778657	13778657	G	A	OFD1	c.1658G>A	NM_001330210.1	NP_001317139.1:p.(Gly553Glu)	NC_000023.10:g.13778657G>A	(Likely) benign	3 labs	d17fef6a4a
4:996165 IDUA G>A	4	996165	996165	G	A	IDUA	c.1081G>A	NM_000203.5	NP_000194.2:p.(Ala361Thr)	NC_000004.11:g.996165G>A	(Likely) benign	5 labs	d183e5c352
4:178359970 AGA A>C	4	178359970	178359970	A	C	AGA	c.436T>G	NM_000027.3	NP_000018.2:p.(Leu146Val)	NC_000004.11:g.178359970A>C	VUS	2 labs	d18da537be
6:152454403 SYNE1 T>G	6	152454403	152454403	T	G	SYNE1	c.26001+8A>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152454403T>G	(Likely) benign	2 labs	d1a44de930
2:240078397 HDAC4 C>T	2	240078397	240078397	C	T	HDAC4	c.684G>A	NM_006037.4	NP_006028.2:p.(Pro228=)	NC_000002.11:g.240078397C>T	(Likely) benign	3 labs	d1af9989fd
13:23930055 SACS A>T	13	23930055	23930055	A	T	SACS	c.696T>A	NM_014363.6	NP_055178.3:p.(Asn232Lys)	NC_000013.10:g.23930055A>T	(Likely) benign	3 labs	d1b2bc6ed1
12:120306886 CIT G>A	12	120306886	120306886	G	A	CIT	c.216C>T	NM_001206999.1	NP_001193928.1:p.(His72=)	NC_000012.11:g.120306886G>A	(Likely) benign	2 labs	d1bff1deab
5:149509447 PDGFRB C>T	5	149509447	149509447	C	T	PDGFRB	c.969G>A	NM_001355017.1	NP_001341946.1:p.(Glu323=)	NC_000005.9:g.149509447C>T	(Likely) benign	2 labs	d1c14c5825
13:111082289 COL4A2 C>T	13	111082289	111082289	C	T	COL4A2	c.535C>T	NM_001846.4	NP_001837.2:p.(Arg179Cys)	NC_000013.10:g.111082289C>T	VUS	2 labs	d1d9618c32
12:25398279 KRAS C>T	12	25398279	25398279	C	T	KRAS	c.40G>A	NM_004985.5	NP_004976.2:p.(Val14Ile)	NC_000012.11:g.25398279C>T	(Likely) pathogenic	4 labs	d1d984550b
3:78656062 ROBO1 G>A	3	78656062	78656062	G	A	ROBO1	c.4565C>T	NM_002941.4	NP_002932.1:p.(Ser1522Leu)	NC_000003.11:g.78656062G>A	VUS	3 labs	d1ee4621c2
17:39925453 JUP C>A	17	39925453	39925453	C	A	JUP	c.475G>T	NM_002230.2	NP_002221.1:p.(Val159Leu)	NC_000017.10:g.39925453C>A	VUS	2 labs	d1efba30a2
16:2138197 TSC2 TAGTG>T	16	2138197	2138203	TAGTG	T	TSC2	c.5161-28_5161-25del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138200_2138203del	(Likely) benign	2 labs	d1edb689a2
2:179539053 TTN C>A	2	179539053	179539053	C	A	TTN	c.34696G>T	NM_001267550.2	NP_001254479.2:p.(Ala11566Ser)	NC_000002.11:g.179539053C>A	VUS	2 labs	d1f5a4de10
1:22200454 HSPG2 G>A	1	22200454	22200454	G	A	HSPG2	c.3710C>T	NM_001291860.1	NP_001278789.1:p.(Ala1237Val)	NC_000001.10:g.22200454G>A	(Likely) benign	2 labs	d205eb3aec
13:32914550 BRCA2 G>A	13	32914550	32914550	G	A	BRCA2	c.6058G>A	NM_000059.4	NP_000050.3:p.(Glu2020Lys)	NC_000013.10:g.32914550G>A	(Likely) benign	3 labs	d201ef2f6f
X:154290176 CMC4 C>G	X	154290176	154290176	C	G	CMC4	c.149G>C	NM_001018024.3	NP_001018024.1:p.(Cys50Ser)	NC_000023.10:g.154290176C>G	(Likely) benign	2 labs	d2101580d0
4:514984 PIGG G>A	4	514984	514984	G	A	PIGG	c.1254G>A	NM_001127178.2	NP_001120650.1:p.(Thr418=)	NC_000004.11:g.514984G>A	(Likely) benign	2 labs	d21a97a42f
X:77227230 ATP7A G>A	X	77227230	77227230	G	A	ATP7A	c.92G>A	NM_000052.7	NP_000043.4:p.(Gly31Glu)	NC_000023.10:g.77227230G>A	VUS	3 labs	d21ce18d40
1:46659598 POMGNT1 C>G	1	46659598	46659598	C	G	POMGNT1	c.880-1G>C	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46659598C>G	(Likely) pathogenic	2 labs	d21edafe59
7:4827903 AP5Z1 A>C	7	4827903	4827903	A	C	AP5Z1	c.1573A>C	NM_014855.3	NP_055670.1:p.(Lys525Gln)	NC_000007.13:g.4827903A>C	(Likely) benign	2 labs	d2200eeec0
16:11001275 CIITA C>T	16	11001275	11001275	C	T	CIITA	c.1929C>T	NM_001286402.1	NP_001273331.1:p.(Val643=)	NC_000016.9:g.11001275C>T	(Likely) benign	2 labs	d226775db5
5:36671124 SLC1A3 C>T	5	36671124	36671124	C	T	SLC1A3	c.320-7C>T	NM_004172.4	NP_004163.3:p.?	NC_000005.9:g.36671124C>T	(Likely) benign	3 labs	d251b29bc4
1:20975105 PINK1 G>A	1	20975105	20975105	G	A	PINK1	c.1231G>A	NM_032409.3	NP_115785.1:p.(Gly411Ser)	NC_000001.10:g.20975105G>A	(Likely) benign	2 labs	d2580b133e
1:154562227 ADAR A>G	1	154562227	154562227	A	G	ADAR	c.1783+6T>C	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154562227A>G	(Likely) benign	2 labs	d25d1bff47
2:47233090 TTC7A G>T	2	47233090	47233090	G	T	TTC7A	c.1095G>T	NM_001288951.1	NP_001275880.1:p.(Val365=)	NC_000002.11:g.47233090G>T	(Likely) benign	2 labs	d25d7ab165
1:3328298 PRDM16 G>A	1	3328298	3328298	G	A	PRDM16	c.1537G>A	NM_022114.4	NP_071397.3:p.(Gly513Ser)	NC_000001.10:g.3328298G>A	VUS	5 labs	d26002d323
X:153700982 PLXNA3 G>A	X	153700982	153700982	G	A	PLXNA3	c.5570G>A	NM_017514.4	NP_059984.3:p.(Arg1857Gln)	NC_000023.10:g.153700982G>A	(Likely) benign	2 labs	d26870dd4a
15:55497828 RAB27A T>C	15	55497828	55497828	T	C	RAB27A	c.543A>G	NM_004580.5	NP_004571.2:p.(Ile181Met)	NC_000015.9:g.55497828T>C	VUS	3 labs	d274b063bf
16:30199093 CORO1A C>T	16	30199093	30199093	C	T	CORO1A	c.804C>T	NM_007074.3	NP_009005.1:p.(Ser268=)	NC_000016.9:g.30199093C>T	(Likely) benign	2 labs	d275742b14
2:179603984 TTN T>C	2	179603984	179603984	T	C	TTN	c.13976A>G	NM_001267550.2	NP_001254479.2:p.(Tyr4659Cys)	NC_000002.11:g.179603984T>C	(Likely) benign	3 labs	d276b08bd9
19:48805977 ODAD1 C>T	19	48805977	48805977	C	T	ODAD1	c.1103G>A	NM_144577.4	NP_653178.3:p.(Arg368Gln)	NC_000019.9:g.48805977C>T	(Likely) benign	2 labs	d27b3d2aee
4:515631 PIGG G>A	4	515631	515631	G	A	PIGG	c.1515G>A	NM_001127178.2	NP_001120650.1:p.(Trp505Ter)	NC_000004.11:g.515631G>A	(Likely) pathogenic	4 labs	d2826abd1a
X:152014933 NSDHL C>T	X	152014933	152014933	C	T	NSDHL	c.65C>T	NM_001129765.1	NP_001123237.1:p.(Thr22Ile)	NC_000023.10:g.152014933C>T	(Likely) benign	2 labs	d2869bd4f5
19:4102404 MAP2K2 G>A	19	4102404	4102404	G	A	MAP2K2	c.498C>T	NM_030662.4	NP_109587.1:p.(Pro166=)	NC_000019.9:g.4102404G>A	(Likely) benign	3 labs	d28007ad94
X:25031441 ARX T>TCGGTGC	X	25031441	25031454	T	TCGGTGC	ARX	c.665_670dup	NM_139058.2	NP_620689.1:p.(Gly222_Thr223dup)	NC_000023.10:g.25031449_25031454dup	VUS	2 labs	d29287631c
1:243471462 SDCCAG8 C>T	1	243471462	243471462	C	T	SDCCAG8	c.912C>T	NM_006642.4	NP_006633.1:p.(Thr304=)	NC_000001.10:g.243471462C>T	(Likely) benign	2 labs	d29e31e850
7:98987567 ARPC1B C>T	7	98987567	98987567	C	T	ARPC1B	c.432C>T	NM_005720.4	NP_005711.1:p.(Thr144=)	NC_000007.13:g.98987567C>T	(Likely) benign	2 labs	d29ff4b4a8
17:29548872 NF1 T>C	17	29548872	29548872	T	C	NF1	c.1646T>C	NM_000267.3	NP_000258.1:p.(Leu549Pro)	NC_000017.10:g.29548872T>C	(Likely) pathogenic	2 labs	d2a88ec610
13:99582495 DOCK9 C>T	13	99582495	99582495	C	T	DOCK9	c.260G>A	NM_001130048.1	NP_001123520.1:p.(Arg87Gln)	NC_000013.10:g.99582495C>T	VUS	2 labs	d2b3b40b0a
2:163133396 IFIH1 G>A	2	163133396	163133396	G	A	IFIH1	c.2105C>T	NM_022168.4	NP_071451.2:p.(Thr702Ile)	NC_000002.11:g.163133396G>A	(Likely) benign	3 labs	d2b4471272
7:21901540 DNAH11 T>C	7	21901540	21901540	T	C	DNAH11				NC_000007.13:g.21901540T>C	(Likely) benign	2 labs	d2b702f632
7:141727485 MGAM G>A	7	141727485	141727485	G	A	MGAM	c.1171G>A	NM_004668.2	NP_004659.2:p.(Asp391Asn)	NC_000007.13:g.141727485G>A	(Likely) benign	2 labs	d2b9e63c1d
X:74494304 UPRT C>T	X	74494304	74494304	C	T	UPRT	c.215C>T	NM_001307944.1	NP_001294873.1:p.(Ser72Phe)	NC_000023.10:g.74494304C>T	(Likely) benign	2 labs	d2bbdaf823
2:63720067 WDPCP T>A	2	63720067	63720067	T	A	WDPCP	c.83A>T	NM_015910.7	NP_056994.3:p.(Asp28Val)	NC_000002.11:g.63720067T>A	(Likely) benign	3 labs	d2bc7eb0e6
11:2869002 KCNQ1 G>A	11	2869002	2869002	G	A	KCNQ1	c.1800G>A	NM_000218.3	NP_000209.2:p.(Thr600=)	NC_000011.9:g.2869002G>A	(Likely) benign	3 labs	d2d1672663
7:147600642 CNTNAP2 T>C	7	147600642	147600642	T	C	CNTNAP2	c.2099-15T>C	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147600642T>C	(Likely) benign	2 labs	d2d24925ca
12:57499995 STAT6 C>T	12	57499995	57499995	C	T	STAT6	c.659G>A	NM_001178078.1	NP_001171549.1:p.(Ser220Asn)	NC_000012.11:g.57499995C>T	(Likely) benign	2 labs	d2d884f1c2
3:48632539 COL7A1 C>G	3	48632539	48632539	C	G	COL7A1	c.54G>C	NM_000094.4	NP_000085.1:p.(Ala18=)	NC_000003.11:g.48632539C>G	(Likely) benign	3 labs	d2e32d6737
20:62317231 RTEL1 G>A	20	62317231	62317231	G	A	RTEL1	c.1348+6G>A	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62317231G>A	(Likely) benign	2 labs	d2ea498fee
22:37266498 NCF4 C>T	22	37266498	37266498	C	T	NCF4	c.384C>T	NM_013416.3	NP_038202.2:p.(Asp128=)	NC_000022.10:g.37266498C>T	(Likely) benign	2 labs	d2ea4a414d
1:41285087 KCNQ4 T>C	1	41285087	41285087	T	C	KCNQ4	c.777T>C	NM_004700.4	NP_004691.2:p.(Ala259=)	NC_000001.10:g.41285087T>C	(Likely) benign	3 labs	d2ea862f1b
8:68107640 CSPP1 C>T	8	68107640	68107640	C	T	CSPP1	c.3478C>T	NM_024790.6	NP_079066.5:p.(Pro1160Ser)	NC_000008.10:g.68107640C>T	(Likely) benign	3 labs	d2ed38b445
12:2788668 CACNA1C C>G	12	2788668	2788668	C	G	CACNA1C	c.5294C>G	NM_199460.3	NP_955630.3:p.(Ala1765Gly)	NC_000012.11:g.2788668C>G	(Likely) benign	3 labs	d2eeed2a17
16:9858211 GRIN2A T>C	16	9858211	9858211	T	C	GRIN2A	c.3190A>G	NM_001134407.3	NP_001127879.1:p.(Thr1064Ala)	NC_000016.9:g.9858211T>C	(Likely) benign	2 labs	d2efb01207
12:53189600 KRT3 C>T	12	53189600	53189600	C	T	KRT3	c.227G>A	NM_057088.2	NP_476429.2:p.(Arg76Gln)	NC_000012.11:g.53189600C>T	(Likely) benign	2 labs	d2fb1e7c84
11:47368153 MYBPC3 G>T	11	47368153	47368153	G	T	MYBPC3	c.926+25C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368153G>T	(Likely) benign	2 labs	d2fe98bf7a
15:38591611 SPRED1 C>T	15	38591611	38591611	C	T	SPRED1	c.70C>T	NM_152594.2	NP_689807.1:p.(Arg24Ter)	NC_000015.9:g.38591611C>T	(Likely) pathogenic	2 labs	d315a843b6
13:25484171 CPAP T>C	13	25484171	25484171	T	C	CPAP	c.622A>G	NM_018451.4	NP_060921.3:p.(Thr208Ala)	NC_000013.10:g.25484171T>C	(Likely) benign	2 labs	d324505e5e
6:66044979 EYS A>T	6	66044979	66044979	A	T	EYS	c.1660T>A	NM_001292009.1	NP_001278938.1:p.(Cys554Ser)	NC_000006.11:g.66044979A>T	VUS	2 labs	d3258149d5
17:29422301 NF1 C>T	17	29422301	29422301	C	T	NF1	c.-27C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422301C>T	VUS	2 labs	d3364a8a96
5:14508068 TRIO A>G	5	14508068	14508068	A	G	TRIO	c.8831A>G	NM_007118.4	NP_009049.2:p.(Asn2944Ser)	NC_000005.9:g.14508068A>G	(Likely) benign	2 labs	d3365e7ba1
2:227919458 COL4A4 T>A	2	227919458	227919458	T	A	COL4A4	c.2717-5A>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227919458T>A	(Likely) benign	3 labs	d33fdbe8a3
19:1457006 APC2 C>T	19	1457006	1457006	C	T	APC2	c.971C>T	NM_005883.2	NP_005874.1:p.(Thr324Ile)	NC_000019.9:g.1457006C>T	(Likely) benign	2 labs	d341f19421
12:6128141 VWF C>A	12	6128141	6128141	C	A	VWF	c.4443G>T	NM_000552.3	NP_000543.2:p.(Gly1481=)	NC_000012.11:g.6128141C>A	(Likely) benign	2 labs	d34577934c
8:144994826 PLEC C>T	8	144994826	144994826	C	T	PLEC	c.9574G>A	NM_201380.3	NP_958782.1:p.(Val3192Met)	NC_000008.10:g.144994826C>T	(Likely) benign	2 labs	d34703c5db
12:112910793 PTPN11 G>A	12	112910793	112910793	G	A	PTPN11	c.802G>A	NM_002834.3	NP_002825.3:p.(Gly268Ser)	NC_000012.11:g.112910793G>A	(Likely) pathogenic	2 labs	d351243e0a
19:15288668 NOTCH3 G>A	19	15288668	15288668	G	A	NOTCH3	c.4071C>T	NM_000435.3	NP_000426.2:p.(Pro1357=)	NC_000019.9:g.15288668G>A	(Likely) benign	3 labs	d353b6531e
13:32914623 BRCA2 G>C	13	32914623	32914623	G	C	BRCA2	c.6131G>C	NM_000059.3	NP_000050.2:p.(Gly2044Ala)	NC_000013.10:g.32914623G>C	(Likely) benign	2 labs	d35f2c6749
11:103082558 DYNC2H1 A>G	11	103082558	103082558	A	G	DYNC2H1	c.8580A>G	NM_001080463.2	NP_001073932.1:p.(Glu2860=)	NC_000011.9:g.103082558A>G	(Likely) benign	3 labs	d3655ccaef
17:17699912 RAI1 G>A	17	17699912	17699912	G	A	RAI1	c.3650G>A	NM_030665.3	NP_109590.3:p.(Arg1217Gln)	NC_000017.10:g.17699912G>A	(Likely) benign	3 labs	d367543231
3:10413644 ATP2B2 G>A	3	10413644	10413644	G	A	ATP2B2	c.1373C>T	NM_001330611.2	NP_001317540.1:p.(Thr458Met)	NC_000003.11:g.10413644G>A	VUS	2 labs	d3785de3d8
9:98278972 PTCH1 T>C	9	98278972	98278972	T	C	PTCH1	c.131A>G	NM_001083603.2	NP_001077072.1:p.(Glu44Gly)	NC_000009.11:g.98278972T>C	(Likely) benign	2 labs	d381225bbb
10:21177084 NEBL C>T	10	21177084	21177084	C	T	NEBL	c.311G>A	NM_006393.2	NP_006384.1:p.(Arg104Gln)	NC_000010.10:g.21177084C>T	(Likely) benign	2 labs	d38262f837
1:227172290 COQ8A C>T	1	227172290	227172290	C	T	COQ8A	c.1440C>T	NM_020247.5	NP_064632.2:p.(Phe480=)	NC_000001.10:g.227172290C>T	(Likely) benign	4 labs	d38701d524
4:178357483 AGA T>C	4	178357483	178357483	T	C	AGA	c.645A>G	NM_000027.3	NP_000018.2:p.(Thr215=)	NC_000004.11:g.178357483T>C	(Likely) benign	2 labs	d39142ffae
9:139396504 NOTCH1 G>A	9	139396504	139396504	G	A	NOTCH1	c.5421C>T	NM_017617.5	NP_060087.3:p.(Asp1807=)	NC_000009.11:g.139396504G>A	(Likely) benign	2 labs	d3941b95f2
22:21350414 LZTR1 C>T	22	21350414	21350414	C	T	LZTR1	c.2219+13C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21350414C>T	(Likely) benign	3 labs	d388c24271
12:114841688 TBX5 C>T	12	114841688	114841688	C	T	TBX5	c.16G>A	NM_000192.3	NP_000183.2:p.(Glu6Lys)	NC_000012.11:g.114841688C>T	VUS	2 labs	d396ad8512
3:180349295 CCDC39 C>T	3	180349295	180349295	C	T	CCDC39	c.1960G>A	NM_181426.2	NP_852091.1:p.(Gly654Arg)	NC_000003.11:g.180349295C>T	VUS	2 labs	d3a7fe27a0
10:90983509 LIPA T>A	10	90983509	90983509	T	A	LIPA	c.754A>T	NM_000235.4	NP_000226.2:p.(Ile252Leu)	NC_000010.10:g.90983509T>A	(Likely) benign	2 labs	d3a470070e
5:13931205 DNAH5 G>C	5	13931205	13931205	G	C	DNAH5	c.192+14C>G	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13931205G>C	(Likely) benign	2 labs	d3af621594
8:1728418 CLN8 G>A	8	1728418	1728418	G	A	CLN8	c.546G>A	NM_018941.3	NP_061764.2:p.(Ala182=)	NC_000008.10:g.1728418G>A	(Likely) benign	2 labs	d3b80cae2f
X:12938163 TLR8 T>A	X	12938163	12938163	T	A	TLR8	c.1058T>A	NM_016610.3	NP_057694.2:p.(Met353Lys)	NC_000023.10:g.12938163T>A	(Likely) benign	2 labs	d3b9449b1d
11:126147035 FOXRED1 T>G	11	126147035	126147035	T	G	FOXRED1	c.1171T>G	NM_017547.3	NP_060017.1:p.(Leu391Val)	NC_000011.9:g.126147035T>G	(Likely) benign	2 labs	d3bb144321
20:50408694 SALL4 C>T	20	50408694	50408694	C	T	SALL4	c.328G>A	NM_001318031.1	NP_001304960.1:p.(Val110Met)	NC_000020.10:g.50408694C>T	(Likely) benign	3 labs	d3bd43fbdd
1:236914754 ACTN2 T>C	1	236914754	236914754	T	C	ACTN2	c.1033-16T>C	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236914754T>C	(Likely) benign	5 labs	d3bda0a9d4
1:220344453 RAB3GAP2 T>C	1	220344453	220344453	T	C	RAB3GAP2	c.2587A>G	NM_012414.3	NP_036546.2:p.(Thr863Ala)	NC_000001.10:g.220344453T>C	(Likely) benign	2 labs	d3c7ffe6b8
10:97388250 ALDH18A1 C>G	10	97388250	97388250	C	G	ALDH18A1	c.809-1G>C	NM_001323413.1	NP_001310342.1:p.?	NC_000010.10:g.97388250C>G	(Likely) pathogenic	3 labs	d3cf030f78
10:75849810 VCL G>A	10	75849810	75849810	G	A	VCL	c.1206G>A	NM_014000.2	NP_054706.1:p.(Pro402=)	NC_000010.10:g.75849810G>A	(Likely) benign	2 labs	d3d02e25fa
2:29294528 PCARE G>A	2	29294528	29294528	G	A	PCARE	c.2600C>T	NM_001029883.3	NP_001025054.1:p.(Pro867Leu)	NC_000002.11:g.29294528G>A	(Likely) benign	2 labs	d3d3b0d235
1:201060837 CACNA1S T>C	1	201060837	201060837	T	C	CACNA1S	c.625A>G	NM_000069.2	NP_000060.2:p.(Ile209Val)	NC_000001.10:g.201060837T>C	VUS	2 labs	d3d62a952b
5:172659986 NKX2-5 C>T	5	172659986	172659986	C	T	NKX2-5	c.561G>A	NM_004387.3	NP_004378.1:p.(Gln187=)	NC_000005.9:g.172659986C>T	(Likely) benign	3 labs	d3dceda1a0
2:152717322 CACNB4 C>T	2	152717322	152717322	C	T	CACNB4	c.213G>A	NM_001330117.1	NP_001317046.1:p.(Thr71=)	NC_000002.11:g.152717322C>T	(Likely) benign	2 labs	d3dfb4318e
8:100791156 VPS13B T>C	8	100791156	100791156	T	C	VPS13B	c.7751T>C	NM_017890.4	NP_060360.3:p.(Val2584Ala)	NC_000008.10:g.100791156T>C	(Likely) benign	3 labs	d3e5ad73be
12:103249087 PAH T>C	12	103249087	103249087	T	C	PAH	c.533A>G	NM_000277.1	NP_000268.1:p.(Glu178Gly)	NC_000012.11:g.103249087T>C	(Likely) pathogenic	2 labs	d3ee48da1f
6:31963559 C4A A>G	6	31963559	31963559	A	G	C4A	c.3218A>G	NM_007293.2	NP_009224.2:p.(Asp1073Gly)	NC_000006.11:g.31963559A>G	(Likely) benign	2 labs	d3fdd47434
18:19070081 GREB1L A>G	18	19070081	19070081	A	G	GREB1L	c.2799A>G	NM_001142966.2	NP_001136438.1:p.(Thr933=)	NC_000018.9:g.19070081A>G	(Likely) benign	2 labs	d3ff7d66a9
1:43869452 SZT2 G>T	1	43869452	43869452	G	T	SZT2	c.327+7G>T	NM_015284.3	NP_056099.3:p.?	NC_000001.10:g.43869452G>T	(Likely) benign	2 labs	d40015d576
X:110574264 DCX G>A	X	110574264	110574264	G	A	DCX	c.1057C>T	NM_000555.3	NP_000546.2:p.(Arg353Ter)	NC_000023.10:g.110574264G>A	(Likely) pathogenic	2 labs	d401d885a7
22:30038249 NF2 T>C	22	30038249	30038249	T	C	NF2	c.422T>C	NM_000268.3	NP_000259.1:p.(Leu141Pro)	NC_000022.10:g.30038249T>C	(Likely) pathogenic	2 labs	d408d6133b
19:41515263 CYP2B6 A>G	19	41515263	41515263	A	G	CYP2B6	c.785A>G	NM_000767.5	NP_000758.1:p.(Lys262Arg)	NC_000019.9:g.41515263A>G	(Likely) benign	2 labs	d40fe9603b
1:114454061 DCLRE1B C>T	1	114454061	114454061	C	T	DCLRE1B	c.847C>T	NM_022836.4	NP_073747.1:p.(Arg283Cys)	NC_000001.10:g.114454061C>T	(Likely) benign	2 labs	d41792fce5
5:82400761 XRCC4 TC>T	5	82400761	82400763	TC	T	XRCC4	c.25del	NM_022406.5	NP_071801.1:p.(His9ThrfsTer8)	NC_000005.9:g.82400763del	(Likely) pathogenic	3 labs	d41b47a2d7
1:155205036 GBA1 T>C	1	155205036	155205036	T	C	GBA1	c.1455A>G	NM_001005741.2	NP_001005741.1:p.(Ala485=)	NC_000001.10:g.155205036T>C	(Likely) benign	2 labs	d41c0b9e27
8:48800245 PRKDC C>G	8	48800245	48800245	C	G	PRKDC	c.4435G>C	NM_006904.6	NP_008835.5:p.(Val1479Leu)	NC_000008.10:g.48800245C>G	(Likely) benign	2 labs	d42277fbc7
X:70330483 IL2RG C>T	X	70330483	70330483	C	T	IL2RG	c.325G>A	NM_000206.2	NP_000197.1:p.(Glu109Lys)	NC_000023.10:g.70330483C>T	(Likely) benign	2 labs	d4250d4d55
12:125435287 DHX37 C>T	12	125435287	125435287	C	T	DHX37	c.2932G>A	NM_032656.4	NP_116045.2:p.(Glu978Lys)	NC_000012.11:g.125435287C>T	VUS	2 labs	d43fc3d46c
1:120478125 NOTCH2 A>C	1	120478125	120478125	A	C	NOTCH2	c.3625T>G	NM_024408.3	NP_077719.2:p.(Phe1209Val)	NC_000001.10:g.120478125A>C	(Likely) benign	3 labs	d44dc1323c
2:228564048 SLC19A3 T>C	2	228564048	228564048	T	C	SLC19A3	c.383A>G	NM_025243.4	NP_079519.1:p.(Tyr128Cys)	NC_000002.11:g.228564048T>C	VUS	3 labs	d44f397279
17:41234470 BRCA1 A>G	17	41234470	41234470	A	G	BRCA1	c.4308T>C	NM_007294.4	NP_009225.1:p.(Ser1436=)	NC_000017.10:g.41234470A>G	(Likely) benign	6 labs	d45058d3df
8:17824485 PCM1 G>C	8	17824485	17824485	G	C	PCM1	c.3339-4G>C	NM_001352650.1	NP_001339579.1:p.?	NC_000008.10:g.17824485G>C	(Likely) benign	2 labs	d455b880b9
16:30735657 SRCAP C>G	16	30735657	30735657	C	G	SRCAP	c.4912C>G	NM_006662.2	NP_006653.2:p.(Pro1638Ala)	NC_000016.9:g.30735657C>G	(Likely) benign	2 labs	d467271f23
13:111077282 COL4A2 C>CA	13	111077282	111077283	C	CA	COL4A2	c.316-17dup	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111077283dup	(Likely) benign	2 labs	d46ecef3b6
8:42317485 SLC20A2 C>T	8	42317485	42317485	C	T	SLC20A2	c.542G>A	NM_001257180.2	NP_001244109.1:p.(Arg181Gln)	NC_000008.10:g.42317485C>T	VUS	2 labs	d462958cfb
14:88459468 GALC G>C	14	88459468	88459468	G	C	GALC	c.41C>G	NM_000153.4	NP_000144.2:p.(Ala14Gly)	NC_000014.8:g.88459468G>C	(Likely) benign	3 labs	d46a7795e5
16:2106696 TSC2 G>C	16	2106696	2106696	G	C	TSC2	c.700G>C	NM_000548.3	NP_000539.2:p.(Glu234Gln)	NC_000016.9:g.2106696G>C	VUS	2 labs	d4756f71b7
20:31023500 ASXL1 C>T	20	31023500	31023500	C	T	ASXL1	c.2985C>T	NM_015338.5	NP_056153.2:p.(His995=)	NC_000020.10:g.31023500C>T	(Likely) benign	3 labs	d484497128
19:12924157 RNASEH2A C>T	19	12924157	12924157	C	T	RNASEH2A	c.777C>T	NM_006397.3	NP_006388.2:p.(Ser259=)	NC_000019.9:g.12924157C>T	(Likely) benign	2 labs	d48184dbc9
2:20173436 WDR35 A>G	2	20173436	20173436	A	G	WDR35	c.770T>C	NM_001006657.1	NP_001006658.1:p.(Val257Ala)	NC_000002.11:g.20173436A>G	(Likely) benign	3 labs	d49a009bad
11:6651472 DCHS1 C>T	11	6651472	6651472	C	T	DCHS1				NC_000011.9:g.6651472C>T	(Likely) benign	2 labs	d49aa1c2e1
2:47222299 TTC7A C>T	2	47222299	47222299	C	T	TTC7A	c.1026C>T	NM_001288951.1	NP_001275880.1:p.(Ile342=)	NC_000002.11:g.47222299C>T	(Likely) benign	2 labs	d49c033fbd
6:3227717 TUBB2B C>T	6	3227717	3227717	C	T	TUBB2B	c.57+4G>A	NM_178012.5	NP_821080.1:p.?	NC_000006.11:g.3227717C>T	(Likely) benign	3 labs	d4a5bff3fb
X:24086125 EIF2S3 T>C	X	24086125	24086125	T	C	EIF2S3	c.912T>C	NM_001415.3	NP_001406.1:p.(Asp304=)	NC_000023.10:g.24086125T>C	(Likely) benign	2 labs	d4aa036a42
1:173873176 SERPINC1 C>A	1	173873176	173873176	C	A	SERPINC1	c.1246G>T	NM_000488.3	NP_000479.1:p.(Ala416Ser)	NC_000001.10:g.173873176C>A	(Likely) pathogenic	2 labs	d4b4a2f1ab
2:179438324 TTN C>T	2	179438324	179438324	C	T	TTN	c.72535G>A	NM_001267550.2	NP_001254479.2:p.(Val24179Ile)	NC_000002.11:g.179438324C>T	VUS	2 labs	d4ad2a1527
7:107432300 SLC26A3 G>A	7	107432300	107432300	G	A	SLC26A3	c.357C>T	NM_000111.2	NP_000102.1:p.(Phe119=)	NC_000007.13:g.107432300G>A	(Likely) benign	3 labs	d4b62a572a
18:32459560 DTNA G>A	18	32459560	32459560	G	A	DTNA	c.1799G>A	NM_001198939.2	NP_001185868.1:p.(Arg600Gln)	NC_000018.9:g.32459560G>A	(Likely) benign	3 labs	d4c07f9473
1:5935162 NPHP4 A>T	1	5935162	5935162	A	T	NPHP4	c.2818-2T>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5935162A>T	(Likely) benign	3 labs	d4d2d78570
20:2398141 TGM6 G>A	20	2398141	2398141	G	A	TGM6	c.1600G>A	NM_198994.2	NP_945345.2:p.(Ala534Thr)	NC_000020.10:g.2398141G>A	VUS	2 labs	d4c8789003
1:11856335 MTHFR G>A	1	11856335	11856335	G	A	MTHFR	c.831C>T	NM_001330358.1	NP_001317287.1:p.(Phe277=)	NC_000001.10:g.11856335G>A	(Likely) benign	2 labs	d4d98ac6f1
15:85400231 ALPK3 A>G	15	85400231	85400231	A	G	ALPK3	c.2262A>G	NM_020778.5	NP_065829.4:p.(Glu754=)	NC_000015.9:g.85400231A>G	(Likely) benign	3 labs	d4dd08825b
4:84205936 COQ2 AC>A	4	84205936	84205937	AC	A	COQ2	c.-20del	NM_001358921.2	NP_001345850.1:p.?	NC_000004.11:g.84205937del	VUS	2 labs	d4eb289b3e
14:21860788 CHD8 G>A	14	21860788	21860788	G	A	CHD8	c.6649C>T	NM_001170629.2	NP_001164100.1:p.(Arg2217Ter)	NC_000014.8:g.21860788G>A	(Likely) pathogenic	2 labs	d4f5c8ab54
22:34046495 LARGE1 C>T	22	34046495	34046495	C	T	LARGE1	c.266G>A	NM_004737.5	NP_004728.1:p.(Arg89Gln)	NC_000022.10:g.34046495C>T	(Likely) benign	2 labs	d4f250618b
16:30723148 SRCAP C>T	16	30723148	30723148	C	T	SRCAP	c.1493-8C>T	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30723148C>T	(Likely) benign	2 labs	d4f97ee6c8
15:63356264 TPM1 C>T	15	63356264	63356264	C	T	TPM1	c.774C>T	NM_001018005.1	NP_001018005.1:p.(Asp258=)	NC_000015.9:g.63356264C>T	(Likely) benign	2 labs	d4fbf9bf11
8:118847781 EXT1 C>T	8	118847781	118847781	C	T	EXT1	c.1066G>A	NM_000127.3	NP_000118.2:p.(Val356Ile)	NC_000008.10:g.118847781C>T	(Likely) benign	3 labs	d5019db9a1
5:68805616 OCLN G>A	5	68805616	68805616	G	A	OCLN	c.699G>A	NM_002538.3	NP_002529.1:p.(Leu233=)	NC_000005.9:g.68805616G>A	(Likely) benign	2 labs	d5012238c4
1:120471712 NOTCH2 C>T	1	120471712	120471712	C	T	NOTCH2	c.3779G>A	NM_024408.3	NP_077719.2:p.(Arg1260His)	NC_000001.10:g.120471712C>T	(Likely) benign	2 labs	d5096dac50
3:160075272 IFT80 T>C	3	160075272	160075272	T	C	IFT80	c.228+5A>G	NM_001190241.1	NP_001177170.1:p.?	NC_000003.11:g.160075272T>C	(Likely) benign	2 labs	d509def6d6
6:126080669 HEY2 C>T	6	126080669	126080669	C	T	HEY2	c.735C>T	NM_012259.3	NP_036391.1:p.(Ser245=)	NC_000006.11:g.126080669C>T	(Likely) benign	2 labs	d50c11d78d
17:8132185 CTC1 C>T	17	8132185	8132185	C	T	CTC1	c.3247G>A	NM_025099.6	NP_079375.3:p.(Glu1083Lys)	NC_000017.10:g.8132185C>T	VUS	2 labs	d50d694b7d
21:47836142 PCNT C>T	21	47836142	47836142	C	T	PCNT	c.6310C>T	NM_006031.5	NP_006022.3:p.(His2104Tyr)	NC_000021.8:g.47836142C>T	(Likely) benign	2 labs	d51533023e
12:109536287 UNG G>A	12	109536287	109536287	G	A	UNG	c.156G>A	NM_003362.3	NP_003353.1:p.(Pro52=)	NC_000012.11:g.109536287G>A	(Likely) benign	2 labs	d51d86ecb2
12:110781071 ATP2A2 G>T	12	110781071	110781071	G	T	ATP2A2	c.2353G>T	NM_170665.4	NP_733765.1:p.(Ala785Ser)	NC_000012.11:g.110781071G>T	VUS	2 labs	d52a4c116c
X:20190971 RPS6KA3 T>C	X	20190971	20190971	T	C	RPS6KA3	c.1246A>G	NM_004586.2	NP_004577.1:p.(Ile416Val)	NC_000023.10:g.20190971T>C	(Likely) benign	2 labs	d52a55f8ba
15:100821479 ADAMTS17 G>A	15	100821479	100821479	G	A	ADAMTS17	c.744C>T	NM_139057.4	NP_620688.2:p.(His248=)	NC_000015.9:g.100821479G>A	(Likely) benign	2 labs	d52726e6d7
13:32912553 BRCA2 C>T	13	32912553	32912553	C	T	BRCA2	c.4061C>T	NM_000059.4	NP_000050.3:p.(Thr1354Met)	NC_000013.10:g.32912553C>T	(Likely) benign	6 labs	d532d36055
X:153583188 FLNA C>G	X	153583188	153583188	C	G	FLNA	c.5217+5G>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153583188C>G	VUS	2 labs	d533a1d634
20:2413126 TGM6 C>T	20	2413126	2413126	C	T	TGM6	c.1968-10C>T	NM_198994.3	NP_945345.2:p.?	NC_000020.10:g.2413126C>T	(Likely) benign	3 labs	d5458edaf0
3:180359874 CCDC39 G>A	3	180359874	180359874	G	A	CCDC39	c.1781C>T	NM_181426.2	NP_852091.1:p.(Thr594Ile)	NC_000003.11:g.180359874G>A	(Likely) benign	2 labs	d547bde14e
3:121526204 IQCB1 G>A	3	121526204	121526204	G	A	IQCB1	c.574C>T	NM_001023570.3	NP_001018864.2:p.(Leu192=)	NC_000003.11:g.121526204G>A	(Likely) benign	2 labs	d553f0d223
15:85383839 ALPK3 G>A	15	85383839	85383839	G	A	ALPK3	c.1329G>A	NM_020778.5	NP_065829.4:p.(Gly443=)	NC_000015.9:g.85383839G>A	(Likely) benign	4 labs	d55fd2cbfc
11:66468196 SPTBN2 C>T	11	66468196	66468196	C	T	SPTBN2	c.3374G>A	NM_006946.4	NP_008877.2:p.(Arg1125Gln)	NC_000011.9:g.66468196C>T	VUS	2 labs	d56030a789
14:95584095 DICER1 A>C	14	95584095	95584095	A	C	DICER1	c.1377-4T>G	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95584095A>C	(Likely) benign	3 labs	d561e78c36
18:12358661 AFG3L2 C>T	18	12358661	12358661	C	T	AFG3L2	c.1026+8G>A	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12358661C>T	(Likely) benign	3 labs	d5659bc8a2
12:133147016 FBRSL1 G>A	12	133147016	133147016	G	A	FBRSL1	c.1103G>A	NM_001142641.2	NP_001136113.1:p.(Arg368Gln)	NC_000012.11:g.133147016G>A	VUS	2 labs	d56a974e55
12:116445450 MED13L C>A	12	116445450	116445450	C	A	MED13L	c.2013-9G>T	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445450C>A	(Likely) benign	2 labs	d56e7e76e3
12:117657993 NOS1 C>T	12	117657993	117657993	C	T	NOS1	c.4057G>A	NM_000620.5	NP_000611.1:p.(Val1353Ile)	NC_000012.11:g.117657993C>T	VUS	2 labs	d579f301fb
13:32914477 BRCA2 C>T	13	32914477	32914477	C	T	BRCA2	c.5985C>T	NM_000059.3	NP_000050.2:p.(Asn1995=)	NC_000013.10:g.32914477C>T	(Likely) benign	3 labs	d58099a181
3:148925418 CP G>A	3	148925418	148925418	G	A	CP	c.782-14C>T	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148925418G>A	(Likely) benign	3 labs	d578065b53
3:49168482 LAMB2 A>G	3	49168482	49168482	A	G	LAMB2	c.816T>C	NM_002292.3	NP_002283.3:p.(Tyr272=)	NC_000003.11:g.49168482A>G	(Likely) benign	2 labs	d5877226cb
9:98209693 PTCH1 G>A	9	98209693	98209693	G	A	PTCH1	c.3647C>T	NM_001083602.1	NP_001077071.1:p.(Pro1216Leu)	NC_000009.11:g.98209693G>A	(Likely) benign	2 labs	d593bf6642
8:100844758 VPS13B T>C	8	100844758	100844758	T	C	VPS13B	c.9567T>C	NM_017890.5	NP_060360.3:p.(Ser3189=)	NC_000008.10:g.100844758T>C	(Likely) benign	4 labs	d599e56e35
13:32907535 BRCA2 C>T	13	32907535	32907535	C	T	BRCA2	c.1909+11C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32907535C>T	(Likely) benign	2 labs	d5a1a1cec6
X:50377398 SHROOM4 C>T	X	50377398	50377398	C	T	SHROOM4	c.1675G>A	NM_020717.4	NP_065768.2:p.(Glu559Lys)	NC_000023.10:g.50377398C>T	(Likely) benign	2 labs	d5ac266b23
16:2140010 PKD1 A>G	16	2140010	2140010	A	G	PKD1	c.12630T>C	NM_001009944.2	NP_001009944.2:p.(Pro4210=)	NC_000016.9:g.2140010A>G	(Likely) benign	2 labs	d5b264e1fb
7:94252709 SGCE T>C	7	94252709	94252709	T	C	SGCE	c.391A>G	NM_003919.3	NP_003910.1:p.(Ile131Val)	NC_000007.13:g.94252709T>C	VUS	3 labs	d5b84cc804
16:72827984 ZFHX3 T>C	16	72827984	72827984	T	C	ZFHX3	c.8597A>G	NM_006885.3	NP_008816.3:p.(Lys2866Arg)	NC_000016.9:g.72827984T>C	(Likely) benign	2 labs	d5b971e739
5:122720737 CEP120 C>T	5	122720737	122720737	C	T	CEP120	c.1671G>A	NM_153223.3	NP_694955.2:p.(Leu557=)	NC_000005.9:g.122720737C>T	(Likely) benign	2 labs	d5bf195270
20:50407162 SALL4 T>C	20	50407162	50407162	T	C	SALL4	c.1860A>G	NM_020436.5	NP_065169.1:p.(Thr620=)	NC_000020.10:g.50407162T>C	(Likely) benign	3 labs	d5c169da52
22:21350150 LZTR1 C>T	22	21350150	21350150	C	T	LZTR1	c.2058C>T	NM_006767.4	NP_006758.2:p.(Ala686=)	NC_000022.10:g.21350150C>T	(Likely) benign	2 labs	d5c85aa285
12:44165152 IRAK4 G>A	12	44165152	44165152	G	A	IRAK4	c.291G>A	NM_001114182.2	NP_001107654.1:p.(Ala97=)	NC_000012.11:g.44165152G>A	(Likely) benign	2 labs	d5c2f3b2a4
5:68830551 OCLN G>C	5	68830551	68830551	G	C	OCLN	c.922G>C	NM_002538.3	NP_002529.1:p.(Val308Leu)	NC_000005.9:g.68830551G>C	(Likely) benign	2 labs	d5cd3e8063
17:59820468 BRIP1 C>T	17	59820468	59820468	C	T	BRIP1	c.2285G>A	NM_032043.2	NP_114432.2:p.(Arg762His)	NC_000017.10:g.59820468C>T	VUS	2 labs	d5d2ce7357
19:11322769 DOCK6 G>A	19	11322769	11322769	G	A	DOCK6	c.4655C>T	NM_001367830.1	NP_001354759.1:p.(Thr1552Met)	NC_000019.9:g.11322769G>A	VUS	2 labs	d5d2d32048
2:179476845 TTN T>G	2	179476845	179476845	T	G	TTN	c.50293A>C	NM_001267550.2	NP_001254479.2:p.(Lys16765Gln)	NC_000002.11:g.179476845T>G	VUS	2 labs	d5cf71c39b
7:117232266 CFTR C>CA	7	117232266	117232273	C	CA	CFTR	c.2052dup	NM_000492.4	NP_000483.3:p.(Gln685ThrfsTer4)	NC_000007.13:g.117232273dup	(Likely) pathogenic	2 labs	d5d3d13d8b
4:166978397 TLL1 G>A	4	166978397	166978397	G	A	TLL1	c.1782G>A	NM_012464.4	NP_036596.3:p.(Leu594=)	NC_000004.11:g.166978397G>A	(Likely) benign	3 labs	d5de18b849
6:56498994 DST C>T	6	56498994	56498994	C	T	DST	c.3458G>A	NM_001144769.5	NP_001138241.1:p.(Ser1153Asn)	NC_000006.11:g.56498994C>T	(Likely) benign	2 labs	d5d9c0120b
X:66765802 AR C>T	X	66765802	66765802	C	T	AR	c.814C>T	NM_000044.4	NP_000035.2:p.(Leu272Phe)	NC_000023.10:g.66765802C>T	(Likely) benign	3 labs	d5e70124c6
19:45854983 ERCC2 C>T	19	45854983	45854983	C	T	ERCC2	c.2191-4G>A	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45854983C>T	(Likely) benign	2 labs	d5e7d559e1
10:64967143 JMJD1C G>A	10	64967143	64967143	G	A	JMJD1C	c.4286C>T	NM_032776.3	NP_116165.1:p.(Ser1429Leu)	NC_000010.10:g.64967143G>A	(Likely) benign	2 labs	d5efa705db
13:32937582 BRCA2 G>A	13	32937582	32937582	G	A	BRCA2	c.8243G>A	NM_000059.3	NP_000050.2:p.(Gly2748Asp)	NC_000013.10:g.32937582G>A	(Likely) pathogenic	3 labs	d5f69ceb8f
7:107355874 SLC26A4 C>T	7	107355874	107355874	C	T	SLC26A4	c.2326C>T	NM_000441.1	NP_000432.1:p.(Arg776Cys)	NC_000007.13:g.107355874C>T	VUS	2 labs	d5fc222221
4:119652605 SEC24D G>A	4	119652605	119652605	G	A	SEC24D	c.2737C>T	NM_001318066.1	NP_001304995.1:p.(Arg913Cys)	NC_000004.11:g.119652605G>A	VUS	2 labs	d5fe1d08e5
1:152281534 FLG A>T	1	152281534	152281534	A	T	FLG	c.5828T>A	NM_002016.1	NP_002007.1:p.(Leu1943His)	NC_000001.10:g.152281534A>T	(Likely) benign	3 labs	d5ffb24987
19:45864905 ERCC2 C>T	19	45864905	45864905	C	T	ERCC2	c.1119-5G>A	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45864905C>T	(Likely) benign	2 labs	d6073773ab
12:64891418 TBK1 G>T	12	64891418	64891418	G	T	TBK1	c.1960-10G>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891418G>T	(Likely) benign	2 labs	d6017fa9c2
5:176056806 SNCB C>T	5	176056806	176056806	C	T	SNCB	c.-10+4G>A	NM_001001502.3	NP_001001502.1:p.?	NC_000005.9:g.176056806C>T	(Likely) benign	2 labs	d607f14e41
5:147470747 SPINK5 G>A	5	147470747	147470747	G	A	SPINK5	c.622G>A	NM_001127698.1	NP_001121170.1:p.(Ala208Thr)	NC_000005.9:g.147470747G>A	(Likely) benign	2 labs	d60e74086d
6:73815033 KCNQ5 A>G	6	73815033	73815033	A	G	KCNQ5	c.972A>G	NM_001160133.2	NP_001153605.1:p.(Gly324=)	NC_000006.11:g.73815033A>G	(Likely) benign	3 labs	d6176ce410
5:37154040 CPLANE1 T>G	5	37154040	37154040	T	G	CPLANE1	c.8013A>C	NM_023073.3	NP_075561.3:p.(Ala2671=)	NC_000005.9:g.37154040T>G	(Likely) benign	2 labs	d61aebc6ae
21:34793888 IFNGR2 C>T	21	34793888	34793888	C	T	IFNGR2	c.365C>T	NM_001329128.1	NP_001316057.1:p.(Ala122Val)	NC_000021.8:g.34793888C>T	(Likely) benign	2 labs	d63096f7a6
11:47370058 MYBPC3 TG>T	11	47370058	47370061	TG	T	MYBPC3	c.688del	NM_000256.3	NP_000247.2:p.(Gln230SerfsTer70)	NC_000011.9:g.47370061del	(Likely) pathogenic	3 labs	d63cabd544
17:62045451 SCN4A G>A	17	62045451	62045451	G	A	SCN4A	c.968C>T	NM_000334.4	NP_000325.4:p.(Thr323Met)	NC_000017.10:g.62045451G>A	(Likely) benign	3 labs	d6512b6646
1:211654742 RD3 A>G	1	211654742	211654742	A	G	RD3	c.16T>C	NM_183059.3	NP_898882.1:p.(Trp6Arg)	NC_000001.10:g.211654742A>G	(Likely) benign	2 labs	d64ed22169
11:67223254 CABP4 C>T	11	67223254	67223254	C	T	CABP4	c.360C>T	NM_145200.5	NP_660201.1:p.(Phe120=)	NC_000011.9:g.67223254C>T	(Likely) benign	2 labs	d6501bb8a5
16:28997940 LAT G>A	16	28997940	28997940	G	A	LAT	c.390G>A	NM_014387.3	NP_055202.1:p.(Pro130=)	NC_000016.9:g.28997940G>A	(Likely) benign	2 labs	d652e432db
1:94492972 ABCA4 G>C	1	94492972	94492972	G	C	ABCA4	c.4539+2029C>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94492972G>C	(Likely) benign	2 labs	d6596373ad
10:61835934 ANK3 A>C	10	61835934	61835934	A	C	ANK3	c.4705T>G	NM_020987.5	NP_066267.2:p.(Ser1569Ala)	NC_000010.10:g.61835934A>C	VUS	2 labs	d6637c23fc
5:1414927 SLC6A3 G>A	5	1414927	1414927	G	A	SLC6A3	c.1035C>T	NM_001044.5	NP_001035.1:p.(Asp345=)	NC_000005.9:g.1414927G>A	(Likely) benign	2 labs	d663acb54a
17:8784042 PIK3R5 G>A	17	8784042	8784042	G	A	PIK3R5	c.1399C>T	NM_001251851.2	NP_001238780.1:p.(Pro467Ser)	NC_000017.10:g.8784042G>A	(Likely) benign	2 labs	d673472e92
4:6302680 WFS1 C>T	4	6302680	6302680	C	T	WFS1	c.1158C>T	NM_006005.3	NP_005996.2:p.(Pro386=)	NC_000004.11:g.6302680C>T	(Likely) benign	2 labs	d66c4eaef0
16:88804408 PIEZO1 G>A	16	88804408	88804408	G	A	PIEZO1	c.954C>T	NM_001142864.4	NP_001136336.2:p.(Val318=)	NC_000016.9:g.88804408G>A	(Likely) benign	2 labs	d6769d0e08
8:68071212 CSPP1 TTTTTA>T	8	68071212	68071222	TTTTTA	T	CSPP1	c.1342-8_1342-4del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68071218_68071222del	(Likely) benign	3 labs	d66ee00da7
17:41215905 BRCA1 AC>A	17	41215905	41215908	AC	A	BRCA1	c.5137del	NM_007294.4	NP_009225.1:p.(Val1713Ter)	NC_000017.10:g.41215908del	(Likely) pathogenic	3 labs	d6922031ca
12:49432365 KMT2D G>A	12	49432365	49432365	G	A	KMT2D	c.8774C>T	NM_003482.4	NP_003473.3:p.(Ala2925Val)	NC_000012.11:g.49432365G>A	(Likely) benign	3 labs	d699d115f4
13:51528055 RNASEH2B A>G	13	51528055	51528055	A	G	RNASEH2B	c.756A>G	NM_024570.4	NP_078846.2:p.(Ser252=)	NC_000013.10:g.51528055A>G	(Likely) benign	2 labs	d699d4e451
11:117280525 CEP164 T>C	11	117280525	117280525	T	C	CEP164	c.3940T>C	NM_014956.5	NP_055771.4:p.(Tyr1314His)	NC_000011.9:g.117280525T>C	(Likely) benign	2 labs	d6999e2a54
7:70255576 AUTS2 GCCA>G	7	70255576	70255602	GCCA	G	AUTS2	c.3326_3328del	NM_001127231.3	NP_001120703.1:p.(His1109del)	NC_000007.13:g.70255600_70255602del	(Likely) benign	2 labs	d6af63baf8
6:161152819 PLG C>T	6	161152819	161152819	C	T	PLG	c.1481C>T	NM_000301.3	NP_000292.1:p.(Ala494Val)	NC_000006.11:g.161152819C>T	(Likely) benign	2 labs	d6b051a25d
5:1201960 SLC6A19 C>T	5	1201960	1201960	C	T	SLC6A19	c.195C>T	NM_001003841.2	NP_001003841.1:p.(His65=)	NC_000005.9:g.1201960C>T	(Likely) benign	2 labs	d6b183d7f2
16:3820773 CREBBP G>A	16	3820773	3820773	G	A	CREBBP	c.2678C>T	NM_004380.2	NP_004371.2:p.(Ser893Leu)	NC_000016.9:g.3820773G>A	(Likely) benign	4 labs	d6b48d99a7
5:1213641 SLC6A19 A>G	5	1213641	1213641	A	G	SLC6A19	c.727A>G	NM_001003841.3	NP_001003841.1:p.(Thr243Ala)	NC_000005.9:g.1213641A>G	VUS	2 labs	d6b7dbc323
9:14746470 FREM1 A>G	9	14746470	14746470	A	G	FREM1	c.6139-4T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14746470A>G	(Likely) benign	2 labs	d6bc279154
X:46502684 SLC9A7 A>G	X	46502684	46502684	A	G	SLC9A7	c.1600T>C	NM_032591.3	NP_115980.1:p.(Trp534Arg)	NC_000023.10:g.46502684A>G	(Likely) benign	2 labs	d6bd6a6c70
20:19955612 RIN2 G>C	20	19955612	19955612	G	C	RIN2	c.1090G>C	NM_001242581.1	NP_001229510.1:p.(Ala364Pro)	NC_000020.10:g.19955612G>C	(Likely) benign	2 labs	d6becac3f2
1:22173967 HSPG2 G>A	1	22173967	22173967	G	A	HSPG2	c.8047C>T	NM_001291860.1	NP_001278789.1:p.(Arg2683Trp)	NC_000001.10:g.22173967G>A	(Likely) benign	3 labs	d6bee0dbde
17:29557276 NF1 A>G	17	29557276	29557276	A	G	NF1	c.2991-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557276A>G	(Likely) pathogenic	2 labs	d6befc4865
16:2154549 PKD1 G>A	16	2154549	2154549	G	A	PKD1	c.8111C>T	NM_001009944.2	NP_001009944.2:p.(Ala2704Val)	NC_000016.9:g.2154549G>A	(Likely) benign	3 labs	d6bf4728a8
6:51889688 PKHD1 T>C	6	51889688	51889688	T	C	PKHD1	c.4920A>G	NM_138694.3	NP_619639.3:p.(Val1640=)	NC_000006.11:g.51889688T>C	(Likely) benign	3 labs	d6c2a318c4
4:126370647 FAT4 G>A	4	126370647	126370647	G	A	FAT4	c.8482G>A	NM_001291303.3	NP_001278232.1:p.(Asp2828Asn)	NC_000004.11:g.126370647G>A	(Likely) benign	2 labs	d6c53f1e24
11:95532445 CEP57 C>T	11	95532445	95532445	C	T	CEP57	c.95C>T	NM_014679.5	NP_055494.2:p.(Ser32Phe)	NC_000011.9:g.95532445C>T	VUS	2 labs	d6c60c890c
15:85400413 ALPK3 G>A	15	85400413	85400413	G	A	ALPK3	c.2444G>A	NM_020778.5	NP_065829.4:p.(Gly815Glu)	NC_000015.9:g.85400413G>A	VUS	3 labs	d6c753d452
4:187541379 FAT1 T>C	4	187541379	187541379	T	C	FAT1	c.6361A>G	NM_005245.3	NP_005236.2:p.(Lys2121Glu)	NC_000004.11:g.187541379T>C	(Likely) benign	2 labs	d6cf957ff1
4:140307334 NAA15 A>G	4	140307334	140307334	A	G	NAA15	c.2350A>G	NM_057175.4	NP_476516.1:p.(Ile784Val)	NC_000004.11:g.140307334A>G	(Likely) benign	2 labs	d6d523d786
9:139391670 NOTCH1 T>C	9	139391670	139391670	T	C	NOTCH1	c.6521A>G	NM_017617.5	NP_060087.3:p.(Lys2174Arg)	NC_000009.11:g.139391670T>C	(Likely) benign	2 labs	d6d6905db9
3:37058996 MLH1 G>C	3	37058996	37058996	G	C	MLH1	c.791-1G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37058996G>C	(Likely) pathogenic	2 labs	d6e5ed9d86
1:19203910 ALDH4A1 G>A	1	19203910	19203910	G	A	ALDH4A1	c.1137C>T	NM_003748.4	NP_003739.2:p.(Asp379=)	NC_000001.10:g.19203910G>A	(Likely) benign	2 labs	d6f58eba29
X:117959307 ZCCHC12 G>A	X	117959307	117959307	G	A	ZCCHC12	c.100G>A	NM_173798.3	NP_776159.1:p.(Gly34Ser)	NC_000023.10:g.117959307G>A	(Likely) benign	2 labs	d6f768ca97
1:237608748 RYR2 G>A	1	237608748	237608748	G	A	RYR2	c.1218G>A	NM_001035.3	NP_001026.2:p.(Ser406=)	NC_000001.10:g.237608748G>A	(Likely) benign	4 labs	d6fae3436c
11:33731888 CD59 C>T	11	33731888	33731888	C	T	CD59	c.171G>A	NM_001127223.1	NP_001120695.1:p.(Gly57=)	NC_000011.9:g.33731888C>T	(Likely) benign	2 labs	d7071d1f69
3:49141355 QARS1 C>T	3	49141355	49141355	C	T	QARS1	c.316G>A	NM_005051.2	NP_005042.1:p.(Asp106Asn)	NC_000003.11:g.49141355C>T	VUS	2 labs	d70d1448b5
3:132218623 DNAJC13 G>T	3	132218623	132218623	G	T	DNAJC13	c.4387G>T	NM_015268.4	NP_056083.3:p.(Ala1463Ser)	NC_000003.11:g.132218623G>T	(Likely) benign	2 labs	d70dfff736
11:2905149 CDKN1C C>T	11	2905149	2905149	C	T	CDKN1C	c.*6-4G>A	NM_000076.2	NP_000067.1:p.?	NC_000011.9:g.2905149C>T	(Likely) benign	2 labs	d70f9ea3a3
11:1778619 CTSD G>C	11	1778619	1778619	G	C	CTSD	c.639C>G	NM_001909.5	NP_001900.1:p.(Pro213=)	NC_000011.9:g.1778619G>C	(Likely) benign	2 labs	d71161d644
7:98554141 TRRAP C>T	7	98554141	98554141	C	T	TRRAP	c.6141C>T	NM_003496.4	NP_003487.1:p.(Thr2047=)	NC_000007.13:g.98554141C>T	(Likely) benign	2 labs	d7237a6fe2
15:44864905 SPG11 C>T	15	44864905	44864905	C	T	SPG11	c.6319G>A	NM_025137.4	NP_079413.3:p.(Val2107Ile)	NC_000015.9:g.44864905C>T	(Likely) benign	3 labs	d722a456d3
1:173823011 DARS2 C>A	1	173823011	173823011	C	A	DARS2	c.1642C>A	NM_018122.5	NP_060592.2:p.(Leu548Met)	NC_000001.10:g.173823011C>A	(Likely) benign	2 labs	d73156792f
5:42719239 GHR A>C	5	42719239	42719239	A	C	GHR	c.1630A>C	NM_001242400.2	NP_001229329.1:p.(Ile544Leu)	NC_000005.9:g.42719239A>C	(Likely) benign	2 labs	d738da2da9
2:179478802 TTN G>A	2	179478802	179478802	G	A	TTN	c.49322C>T	NM_001267550.1	NP_001254479.1:p.(Pro16441Leu)	NC_000002.11:g.179478802G>A	VUS	2 labs	d735fa03a1
11:1268934 MUC5B C>A	11	1268934	1268934	C	A	MUC5B	c.10824C>A	NM_002458.3	NP_002449.2:p.(Val3608=)	NC_000011.9:g.1268934C>A	(Likely) benign	2 labs	d731f983d9
17:29527515 NF1 A>G	17	29527515	29527515	A	G	NF1	c.964A>G	NM_000267.3	NP_000258.1:p.(Ile322Val)	NC_000017.10:g.29527515A>G	(Likely) benign	2 labs	d758425475
2:48921375 LHCGR T>C	2	48921375	48921375	T	C	LHCGR	c.935A>G	NM_000233.4	NP_000224.2:p.(Asn312Ser)	NC_000002.11:g.48921375T>C	(Likely) benign	2 labs	d76145e521
12:111844086 SH2B3 G>A	12	111844086	111844086	G	A	SH2B3	c.-28+5G>A	NM_005475.3	NP_005466.1:p.?	NC_000012.11:g.111844086G>A	(Likely) benign	3 labs	d76505e3ae
11:47372933 MYBPC3 C>T	11	47372933	47372933	C	T	MYBPC3	c.149G>A	NM_000256.3	NP_000247.2:p.(Ser50Asn)	NC_000011.9:g.47372933C>T	VUS	2 labs	d762c70238
16:15813153 MYH11 C>T	16	15813153	15813153	C	T	MYH11	c.5095G>A	NM_002474.3	NP_002465.1:p.(Ala1699Thr)	NC_000016.9:g.15813153C>T	VUS	2 labs	d768a0f6d8
14:23855511 MYH6 C>T	14	23855511	23855511	C	T	MYH6	c.4959+13G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855511C>T	(Likely) benign	4 labs	d77371df49
10:48389083 RBP3 T>C	10	48389083	48389083	T	C	RBP3	c.1795A>G	NM_002900.2	NP_002891.1:p.(Ile599Val)	NC_000010.10:g.48389083T>C	VUS	2 labs	d78725fc89
2:179447755 TTN G>A	2	179447755	179447755	G	A	TTN	c.65775C>T	NM_001267550.2	NP_001254479.2:p.(Ser21925=)	NC_000002.11:g.179447755G>A	(Likely) benign	5 labs	d797776e2a
1:22178643 HSPG2 C>T	1	22178643	22178643	C	T	HSPG2	c.6808G>A	NM_005529.7	NP_005520.4:p.(Gly2270Arg)	NC_000001.10:g.22178643C>T	VUS	2 labs	d799d5a1fa
5:140070876 HARS1 G>T	5	140070876	140070876	G	T	HARS1	c.14C>A	NM_002109.6	NP_002100.2:p.(Ala5Glu)	NC_000005.9:g.140070876G>T	(Likely) benign	3 labs	d79b871976
15:90172022 KIF7 C>T	15	90172022	90172022	C	T	KIF7	c.3665-5G>A	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90172022C>T	(Likely) benign	2 labs	d79eceb91a
16:2550785 TBC1D24 C>T	16	2550785	2550785	C	T	TBC1D24	c.1526-20C>T	NM_001199107.1	NP_001186036.1:p.?	NC_000016.9:g.2550785C>T	(Likely) benign	2 labs	d79f5a89ee
4:10089907 WDR1 T>A	4	10089907	10089907	T	A	WDR1	c.717+10A>T	NM_017491.4	NP_059830.1:p.?	NC_000004.11:g.10089907T>A	(Likely) benign	2 labs	d7a443d242
4:6303574 WFS1 G>A	4	6303574	6303574	G	A	WFS1	c.2052G>A	NM_006005.3	NP_005996.2:p.(Ala684=)	NC_000004.11:g.6303574G>A	(Likely) benign	3 labs	d7a6dd0190
1:103462630 COL11A1 A>G	1	103462630	103462630	A	G	COL11A1	c.2277+6T>C	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103462630A>G	VUS	2 labs	d7bfd12985
5:89990524 ADGRV1 C>T	5	89990524	89990524	C	T	ADGRV1	c.7945+6C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89990524C>T	(Likely) benign	2 labs	d7c25a5818
20:50406962 SALL4 ACAT>A	20	50406962	50406971	ACAT	A	SALL4	c.2057_2059del	NM_020436.5	NP_065169.1:p.(Asp686del)	NC_000020.10:g.50406969_50406971del	(Likely) benign	2 labs	d7c2e0fed6
X:24948590 POLA1 C>T	X	24948590	24948590	C	T	POLA1	c.4167C>T	NM_016937.3	NP_058633.2:p.(Tyr1389=)	NC_000023.10:g.24948590C>T	(Likely) benign	2 labs	d7c86be351
X:110389772 PAK3 G>A	X	110389772	110389772	G	A	PAK3	c.363G>A	NM_001128168.2	NP_001121640.1:p.(Met121Ile)	NC_000023.10:g.110389772G>A	(Likely) benign	4 labs	d7d6f0d631
11:2797220 KCNQ1 G>A	11	2797220	2797220	G	A	KCNQ1	c.1621G>A	NM_000218.2	NP_000209.2:p.(Val541Ile)	NC_000011.9:g.2797220G>A	VUS	2 labs	d7dac79936
17:17707167 RAI1 C>T	17	17707167	17707167	C	T	RAI1	c.5659+4C>T	NM_030665.3	NP_109590.3:p.?	NC_000017.10:g.17707167C>T	(Likely) benign	2 labs	d7ee4bdf49
10:97445336 TCTN3 T>C	10	97445336	97445336	T	C	TCTN3	c.946A>G	NM_015631.5	NP_056446.4:p.(Thr316Ala)	NC_000010.10:g.97445336T>C	(Likely) benign	3 labs	d7f396511a
12:124171433 TCTN2 C>T	12	124171433	124171433	C	T	TCTN2	c.615C>T	NM_024809.4	NP_079085.2:p.(Gly205=)	NC_000012.11:g.124171433C>T	(Likely) benign	3 labs	d7f67de9a2
2:179614059 TTN T>C	2	179614059	179614059	T	C	TTN	c.13068A>G	NM_133379.5	NP_596870.2:p.(Gln4356=)	NC_000002.11:g.179614059T>C	(Likely) benign	3 labs	d7f7c5d8b7
16:1637198 IFT140 C>G	16	1637198	1637198	C	G	IFT140	c.1009+1G>C	NM_014714.3	NP_055529.2:p.?	NC_000016.9:g.1637198C>G	(Likely) pathogenic	2 labs	d80a1c4b08
12:94072701 CRADD C>A	12	94072701	94072701	C	A	CRADD	c.151C>A	NM_003805.5	NP_003796.1:p.(Leu51Ile)	NC_000012.11:g.94072701C>A	(Likely) benign	2 labs	d8100261c9
8:62580819 ASPH A>T	8	62580819	62580819	A	T	ASPH	c.296T>A	NM_020164.5	NP_064549.1:p.(Val99Glu)	NC_000008.10:g.62580819A>T	(Likely) benign	3 labs	d80ac1b989
17:76133356 TMC8 G>A	17	76133356	76133356	G	A	TMC8	c.1168G>A	NM_152468.4	NP_689681.2:p.(Val390Ile)	NC_000017.10:g.76133356G>A	(Likely) benign	2 labs	d819ce1e57
X:153578508 FLNA G>A	X	153578508	153578508	G	A	FLNA	c.7224C>T	NM_001110556.2	NP_001104026.1:p.(Gly2408=)	NC_000023.10:g.153578508G>A	(Likely) benign	4 labs	d813d76bf2
16:2120585 TSC2 G>A	16	2120585	2120585	G	A	TSC2	c.1839+6G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2120585G>A	(Likely) benign	2 labs	d81857b7eb
13:111082735 COL4A2 T>C	13	111082735	111082735	T	C	COL4A2	c.550-13T>C	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111082735T>C	(Likely) benign	2 labs	d81d4cb0e8
4:178359960 AGA G>C	4	178359960	178359960	G	C	AGA	c.446C>G	NM_000027.4	NP_000018.2:p.(Thr149Ser)	NC_000004.11:g.178359960G>C	(Likely) benign	2 labs	d822448029
6:152560808 SYNE1 A>G	6	152560808	152560808	A	G	SYNE1	c.19927T>C	NM_182961.4	NP_892006.3:p.(Leu6643=)	NC_000006.11:g.152560808A>G	(Likely) benign	3 labs	d8243189c4
10:79782028 POLR3A G>A	10	79782028	79782028	G	A	POLR3A	c.760C>T	NM_007055.3	NP_008986.2:p.(Arg254Ter)	NC_000010.10:g.79782028G>A	(Likely) pathogenic	2 labs	d828c19da2
1:158655129 SPTA1 C>G	1	158655129	158655129	C	G	SPTA1	c.33G>C	NM_003126.3	NP_003117.2:p.(Glu11Asp)	NC_000001.10:g.158655129C>G	(Likely) benign	2 labs	d844155f32
7:128495247 FLNC C>A	7	128495247	128495247	C	A	FLNC	c.7136-6C>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128495247C>A	(Likely) benign	2 labs	d8457756b5
5:1208984 SLC6A19 C>A	5	1208984	1208984	C	A	SLC6A19	c.326C>A	NM_001003841.3	NP_001003841.1:p.(Pro109Gln)	NC_000005.9:g.1208984C>A	VUS	2 labs	d847a7f89b
10:100185466 HPS1 C>T	10	100185466	100185466	C	T	HPS1	c.195G>A	NM_001322487.1	NP_001309416.1:p.(Ala65=)	NC_000010.10:g.100185466C>T	(Likely) benign	2 labs	d84dafb604
21:43796716 TMPRSS3 G>A	21	43796716	43796716	G	A	TMPRSS3	c.1128C>T	NM_024022.2	NP_076927.1:p.(Tyr376=)	NC_000021.8:g.43796716G>A	(Likely) benign	2 labs	d8524c740c
2:135911422 RAB3GAP1 T>C	2	135911422	135911422	T	C	RAB3GAP1	c.2265T>C	NM_001172435.2	NP_001165906.1:p.(Phe755=)	NC_000002.11:g.135911422T>C	(Likely) benign	3 labs	d85c060f90
3:47036860 NBEAL2 G>A	3	47036860	47036860	G	A	NBEAL2	c.1635G>A	NM_015175.2	NP_055990.1:p.(Ser545=)	NC_000003.11:g.47036860G>A	(Likely) benign	2 labs	d85e609540
1:978713 AGRN G>A	1	978713	978713	G	A	AGRN	c.1479G>A	NM_001305275.2	NP_001292204.1:p.(Ala493=)	NC_000001.10:g.978713G>A	(Likely) benign	2 labs	d8764d3817
9:35091718 PIGO C>G	9	35091718	35091718	C	G	PIGO	c.2166G>C	NM_032634.3	NP_116023.2:p.(Ala722=)	NC_000009.11:g.35091718C>G	(Likely) benign	2 labs	d87f27342f
2:99012939 CNGA3 C>T	2	99012939	99012939	C	T	CNGA3	c.1306C>T	NM_001298.2	NP_001289.1:p.(Arg436Trp)	NC_000002.11:g.99012939C>T	(Likely) pathogenic	2 labs	d88559c96f
2:170068564 LRP2 A>G	2	170068564	170068564	A	G	LRP2	c.6194T>C	NM_004525.3	NP_004516.2:p.(Ile2065Thr)	NC_000002.11:g.170068564A>G	(Likely) benign	2 labs	d88b4144b1
X:100609676 BTK G>A	X	100609676	100609676	G	A	BTK	c.1675C>T	NM_001287344.1	NP_001274273.1:p.(Arg559Ter)	NC_000023.10:g.100609676G>A	(Likely) pathogenic	2 labs	d89969210e
X:41646514 CASK G>A	X	41646514	41646514	G	A	CASK	c.195C>T	NM_003688.3	NP_003679.2:p.(Ile65=)	NC_000023.10:g.41646514G>A	(Likely) benign	2 labs	d8a59065ca
15:101113954 LINS1 G>A	15	101113954	101113954	G	A	LINS1	c.1124C>T	NM_001040616.2	NP_001035706.1:p.(Thr375Ile)	NC_000015.9:g.101113954G>A	(Likely) benign	2 labs	d8af996d40
X:133981492 PABIR3 A>G	X	133981492	133981492	A	G	PABIR3	c.345+2061A>G	NM_001170779.1	NP_001164250.1:p.?	NC_000023.10:g.133981492A>G	(Likely) benign	2 labs	d8bd5bebed
11:47371519 MYBPC3 G>GC	11	47371519	47371526	G	GC	MYBPC3	c.505+45dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371526dup	(Likely) benign	2 labs	d8c193808b
13:48878090 RB1 C>T	13	48878090	48878090	C	T	RB1	c.42C>T	NM_000321.3	NP_000312.2:p.(Ala14=)	NC_000013.10:g.48878090C>T	(Likely) benign	2 labs	d8c4265f17
12:122064757 ORAI1 GGGAGCCCCC>G	12	122064757	122064768	GGGAGCCCCC	G	ORAI1	c.113_121del	NM_032790.3	NP_116179.2:p.(Glu38_Pro40del)	NC_000012.11:g.122064760_122064768del	VUS	3 labs	d8c9738035
2:228104936 COL4A3 G>T	2	228104936	228104936	G	T	COL4A3	c.222G>T	NM_000091.4	NP_000082.2:p.(Pro74=)	NC_000002.11:g.228104936G>T	(Likely) benign	3 labs	d8cf206f3a
X:73962294 NEXMIF C>G	X	73962294	73962294	C	G	NEXMIF	c.2098G>C	NM_001008537.2	NP_001008537.1:p.(Val700Leu)	NC_000023.10:g.73962294C>G	(Likely) benign	2 labs	d8d6c4c621
4:39205292 WDR19 C>G	4	39205292	39205292	C	G	WDR19	c.553C>G	NM_025132.3	NP_079408.3:p.(Gln185Glu)	NC_000004.11:g.39205292C>G	(Likely) benign	2 labs	d8d7f93ae0
2:179408310 TTN C>T	2	179408310	179408310	C	T	TTN	c.96390G>A	NM_001267550.2	NP_001254479.2:p.(Thr32130=)	NC_000002.11:g.179408310C>T	(Likely) benign	4 labs	d8df53ce54
1:27428621 SLC9A1 C>T	1	27428621	27428621	C	T	SLC9A1	c.1821G>A	NM_003047.4	NP_003038.2:p.(Gln607=)	NC_000001.10:g.27428621C>T	(Likely) benign	2 labs	d8e8c0f7c8
5:41155108 C6 G>A	5	41155108	41155108	G	A	C6	c.2067C>T	NM_001115131.2	NP_001108603.2:p.(Asp689=)	NC_000005.9:g.41155108G>A	(Likely) benign	2 labs	d8ebda1a78
10:76789417 KAT6B G>A	10	76789417	76789417	G	A	KAT6B	c.4835G>A	NM_012330.3	NP_036462.2:p.(Arg1612His)	NC_000010.10:g.76789417G>A	(Likely) benign	3 labs	d8f23d5fbc
9:139326922 INPP5E C>T	9	139326922	139326922	C	T	INPP5E	c.1387+9G>A	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139326922C>T	(Likely) benign	2 labs	d8f2b99e14
8:145639773 SLC39A4 G>A	8	145639773	145639773	G	A	SLC39A4	c.1022C>T	NM_130849.4	NP_570901.3:p.(Ala341Val)	NC_000008.10:g.145639773G>A	VUS	2 labs	d8f5ccbab4
2:50848338 NRXN1 T>A	2	50848338	50848338	T	A	NRXN1	c.1278+5A>T	NM_001135659.3	NP_001129131.1:p.?	NC_000002.11:g.50848338T>A	(Likely) benign	2 labs	d8f6150d33
22:19883063 TXNRD2 G>A	22	19883063	19883063	G	A	TXNRD2	c.816C>T	NM_006440.5	NP_006431.2:p.(Gly272=)	NC_000022.10:g.19883063G>A	(Likely) benign	2 labs	d8f8360c35
20:400378 RBCK1 G>A	20	400378	400378	G	A	RBCK1	c.630+3G>A	NM_006462.5	NP_006453.1:p.?	NC_000020.10:g.400378G>A	(Likely) benign	2 labs	d910d915f9
6:1611280 FOXC1 G>C	6	1611280	1611280	G	C	FOXC1	c.600G>C	NM_001453.3	NP_001444.2:p.(Gln200His)	NC_000006.11:g.1611280G>C	(Likely) benign	2 labs	d91a5ecaf6
14:64894045 MTHFD1 C>T	14	64894045	64894045	C	T	MTHFD1	c.1128-10C>T	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64894045C>T	(Likely) benign	2 labs	d919b8fdf9
7:2583388 BRAT1 C>CT	7	2583388	2583390	C	CT	BRAT1	c.638dup	NM_152743.4	NP_689956.2:p.(Val214GlyfsTer189)	NC_000007.13:g.2583390dup	(Likely) pathogenic	5 labs	d91b7c78d2
19:42406443 ARHGEF1 G>A	19	42406443	42406443	G	A	ARHGEF1	c.1479G>A	NM_199002.1	NP_945353.1:p.(Leu493=)	NC_000019.9:g.42406443G>A	(Likely) benign	2 labs	d92396b452
16:53706823 RPGRIP1L GTT>G	16	53706823	53706826	GTT	G	RPGRIP1L	c.986_987del	NM_015272.5	NP_056087.2:p.(Lys329ThrfsTer9)	NC_000016.9:g.53706825_53706826del	(Likely) pathogenic	2 labs	d92bb6a5da
X:70360480 MED12 T>C	X	70360480	70360480	T	C	MED12	c.6045-5T>C	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70360480T>C	(Likely) benign	3 labs	d932ddedae
4:100540145 MTTP A>G	4	100540145	100540145	A	G	MTTP	c.2232A>G	NM_000253.4	NP_000244.2:p.(Gln744=)	NC_000004.11:g.100540145A>G	(Likely) benign	2 labs	d92f0b2311
11:66333807 CTSF G>A	11	66333807	66333807	G	A	CTSF	c.676C>T	NM_003793.4	NP_003784.2:p.(Arg226Cys)	NC_000011.9:g.66333807G>A	(Likely) benign	2 labs	d9315f11fd
10:73122083 SLC29A3 C>T	10	73122083	73122083	C	T	SLC29A3	c.1146C>T	NM_018344.6	NP_060814.4:p.(Phe382=)	NC_000010.10:g.73122083C>T	(Likely) benign	2 labs	d939d1f165
4:20619178 SLIT2 C>T	4	20619178	20619178	C	T	SLIT2	c.4253C>T	NM_004787.3	NP_004778.1:p.(Ala1418Val)	NC_000004.11:g.20619178C>T	(Likely) benign	2 labs	d93f34649d
15:31294573 TRPM1 G>A	15	31294573	31294573	G	A	TRPM1	c.4381C>T	NM_001252020.2	NP_001238949.1:p.(Arg1461Cys)	NC_000015.9:g.31294573G>A	(Likely) benign	2 labs	d93eed4d68
11:533546 HRAS G>A	11	533546	533546	G	A	HRAS	c.357C>T	NM_005343.2	NP_005334.1:p.(Asp119=)	NC_000011.9:g.533546G>A	(Likely) benign	3 labs	d9442e86c7
12:8995761 A2ML1 A>G	12	8995761	8995761	A	G	A2ML1	c.1280A>G	NM_144670.5	NP_653271.2:p.(Asn427Ser)	NC_000012.11:g.8995761A>G	(Likely) benign	2 labs	d94a486ceb
6:56505175 DST T>A	6	56505175	56505175	T	A	DST	c.2157A>T	NM_001144769.5	NP_001138241.1:p.(Ser719=)	NC_000006.11:g.56505175T>A	(Likely) benign	3 labs	d95d855161
8:61655037 CHD7 A>G	8	61655037	61655037	A	G	CHD7				NC_000008.10:g.61655037A>G	(Likely) benign	3 labs	d96a625450
8:6299641 MCPH1 G>A	8	6299641	6299641	G	A	MCPH1	c.634G>A	NM_024596.4	NP_078872.2:p.(Ala212Thr)	NC_000008.10:g.6299641G>A	(Likely) benign	3 labs	d9706881c4
4:79258894 FRAS1 A>T	4	79258894	79258894	A	T	FRAS1	c.2345A>T	NM_025074.7	NP_079350.5:p.(His782Leu)	NC_000004.11:g.79258894A>T	VUS	2 labs	d973ea32df
17:7579619 TP53 G>T	17	7579619	7579619	G	T	TP53	c.97-29C>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579619G>T	(Likely) benign	3 labs	d978212733
X:100662903 GLA C>T	X	100662903	100662903	C	T	GLA	c.-12G>A	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100662903C>T	(Likely) benign	4 labs	d9753f8900
3:4856180 ITPR1 T>C	3	4856180	4856180	T	C	ITPR1	c.7590T>C	NM_001168272.2	NP_001161744.1:p.(Thr2530=)	NC_000003.11:g.4856180T>C	(Likely) benign	3 labs	d978473dc3
6:13316805 TBC1D7 A>G	6	13316805	13316805	A	G	TBC1D7	c.517T>C	NM_016495.5	NP_057579.1:p.(Leu173=)	NC_000006.11:g.13316805A>G	(Likely) benign	2 labs	d9791cf73a
18:28681889 DSC2 G>T	18	28681889	28681889	G	T	DSC2	c.46C>A	NM_024422.4	NP_077740.1:p.(Arg16=)	NC_000018.9:g.28681889G>T	(Likely) benign	2 labs	d97dcb614a
10:73405729 CDH23 G>A	10	73405729	73405729	G	A	CDH23	c.1282G>A	NM_022124.5	NP_071407.4:p.(Asp428Asn)	NC_000010.10:g.73405729G>A	VUS	2 labs	d983a86e1a
1:200587973 KIF14 G>GA	1	200587973	200587983	G	GA	KIF14	c.-115-8dup	NM_014875.2	NP_055690.1:p.?	NC_000001.10:g.200587983dup	(Likely) benign	2 labs	d992eeec90
22:36661691 APOL1 G>A	22	36661691	36661691	G	A	APOL1	c.857G>A	NM_145343.2	NP_663318.1:p.(Gly286Asp)	NC_000022.10:g.36661691G>A	(Likely) benign	2 labs	d9931e11c4
20:61448950 COL9A3 C>T	20	61448950	61448950	C	T	COL9A3	c.110C>T	NM_001853.4	NP_001844.3:p.(Pro37Leu)	NC_000020.10:g.61448950C>T	(Likely) benign	2 labs	d99493e434
20:62319356 RTEL1 C>T	20	62319356	62319356	C	T	RTEL1	c.1548C>T	NM_001283009.1	NP_001269938.1:p.(Val516=)	NC_000020.10:g.62319356C>T	(Likely) benign	2 labs	d99860f9e4
11:124745468 ROBO3 G>T	11	124745468	124745468	G	T	ROBO3	c.2308G>T	NM_022370.3	NP_071765.2:p.(Gly770Cys)	NC_000011.9:g.124745468G>T	VUS	2 labs	d99f4afe58
2:152463200 NEB C>T	2	152463200	152463200	C	T	NEB	c.12667G>A	NM_001271208.1	NP_001258137.1:p.(Ala4223Thr)	NC_000002.11:g.152463200C>T	(Likely) benign	3 labs	d9a2ffab9d
2:26644264 DRC1 C>T	2	26644264	26644264	C	T	DRC1	c.352C>T	NM_145038.5	NP_659475.2:p.(Gln118Ter)	NC_000002.11:g.26644264C>T	(Likely) pathogenic	2 labs	d9a50e4370
19:50411547 NUP62 G>A	19	50411547	50411547	G	A	NUP62	c.1518C>T	NM_016553.4	NP_057637.2:p.(Cys506=)	NC_000019.9:g.50411547G>A	(Likely) benign	2 labs	d9ab38274f
1:156106048 LMNA C>T	1	156106048	156106048	C	T	LMNA				NC_000001.10:g.156106048C>T	VUS	2 labs	d9ad855d81
4:13545716 NKX3-2 G>C	4	13545716	13545716	G	C	NKX3-2	c.323C>G	NM_001189.3	NP_001180.1:p.(Ala108Gly)	NC_000004.11:g.13545716G>C	(Likely) benign	2 labs	d9b60b57f0
8:145700309 FOXH1 C>G	8	145700309	145700309	C	G	FOXH1	c.410G>C	NM_003923.2	NP_003914.1:p.(Arg137Pro)	NC_000008.10:g.145700309C>G	(Likely) benign	3 labs	d9b703207b
X:153581169 FLNA T>C	X	153581169	153581169	T	C	FLNA	c.6350A>G	NM_001110556.2	NP_001104026.1:p.(Asn2117Ser)	NC_000023.10:g.153581169T>C	(Likely) benign	2 labs	d9c65f8102
13:32893260 BRCA2 AG>A	13	32893260	32893261	AG	A	BRCA2	c.115del	NM_000059.4	NP_000050.3:p.(Ala39LeufsTer41)	NC_000013.10:g.32893261del	(Likely) pathogenic	2 labs	d9d47d3089
11:68701332 IGHMBP2 C>A	11	68701332	68701332	C	A	IGHMBP2	c.1488C>A	NM_002180.3	NP_002171.2:p.(Cys496Ter)	NC_000011.9:g.68701332C>A	(Likely) pathogenic	3 labs	d9ccd3f418
5:40958215 C7 G>A	5	40958215	40958215	G	A	C7	c.1341G>A	NM_000587.4	NP_000578.2:p.(Glu447=)	NC_000005.9:g.40958215G>A	(Likely) benign	3 labs	d9cd15c2df
X:109695998 RTL9 T>C	X	109695998	109695998	T	C	RTL9	c.2153T>C	NM_020769.2	NP_065820.1:p.(Met718Thr)	NC_000023.10:g.109695998T>C	(Likely) benign	2 labs	d9de6c819c
10:123247751 FGFR2 T>TA	10	123247751	123247752	T	TA	FGFR2	c.1864-125dup	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123247752dup	(Likely) benign	2 labs	d9df8b03be
2:47708004 MSH2 AAG>A	2	47708004	47708010	AAG	A	MSH2	c.2633_2634del	NM_000251.3	NP_000242.1:p.(Glu878AlafsTer3)	NC_000002.11:g.47708009_47708010del	(Likely) pathogenic	3 labs	d9e5ec9ac8
1:197070697 ASPM T>C	1	197070697	197070697	T	C	ASPM	c.7684A>G	NM_018136.5	NP_060606.3:p.(Ser2562Gly)	NC_000001.10:g.197070697T>C	(Likely) benign	3 labs	d9e797a5bb
6:51524305 PKHD1 T>C	6	51524305	51524305	T	C	PKHD1	c.10619A>G	NM_138694.3	NP_619639.3:p.(Asp3540Gly)	NC_000006.11:g.51524305T>C	VUS	3 labs	d9ec58ba7f
13:32906558 BRCA2 T>A	13	32906558	32906558	T	A	BRCA2	c.943T>A	NM_000059.4	NP_000050.3:p.(Cys315Ser)	NC_000013.10:g.32906558T>A	(Likely) benign	6 labs	d9ed25cbb2
14:68257459 ZFYVE26 G>C	14	68257459	68257459	G	C	ZFYVE26	c.2585C>G	NM_015346.4	NP_056161.2:p.(Pro862Arg)	NC_000014.8:g.68257459G>C	VUS	2 labs	d9fa2f50b4
9:74300311 CEMIP2 T>TAAA	9	74300311	74300329	T	TAAA	CEMIP2	c.3956-5_3956-3dup	NM_013390.2	NP_037522.1:p.?	NC_000009.11:g.74300327_74300329dup	(Likely) benign	2 labs	d9f74f8fc7
2:179613257 TTN G>A	2	179613257	179613257	G	A	TTN	c.13870C>T	NM_133379.4	NP_596870.2:p.(His4624Tyr)	NC_000002.11:g.179613257G>A	VUS	2 labs	d9f8564e50
X:128947644 ZDHHC9 G>A	X	128947644	128947644	G	A	ZDHHC9	c.674+9C>T	NM_001008222.2	NP_001008223.1:p.?	NC_000023.10:g.128947644G>A	(Likely) benign	2 labs	da06ba5916
14:23857097 MYH6 C>T	14	23857097	23857097	C	T	MYH6	c.4395G>A	NM_002471.4	NP_002462.2:p.(Ser1465=)	NC_000014.8:g.23857097C>T	(Likely) benign	3 labs	da034acddd
9:13112024 MPDZ C>T	9	13112024	13112024	C	T	MPDZ	c.5636G>A	NM_003829.4	NP_003820.2:p.(Arg1879Lys)	NC_000009.11:g.13112024C>T	(Likely) benign	2 labs	da0b3fc584
2:48033780 MSH6 C>T	2	48033780	48033780	C	T	MSH6	c.3991C>T	NM_000179.3	NP_000170.1:p.(Arg1331Ter)	NC_000002.11:g.48033780C>T	(Likely) pathogenic	2 labs	da0bd5d1ff
13:32906958 BRCA2 G>A	13	32906958	32906958	G	A	BRCA2	c.1343G>A	NM_000059.3	NP_000050.2:p.(Arg448His)	NC_000013.10:g.32906958G>A	(Likely) benign	2 labs	da308b922b
2:168101947 XIRP2 G>A	2	168101947	168101947	G	A	XIRP2	c.4045G>A	NM_152381.5	NP_689594.4:p.(Gly1349Arg)	NC_000002.11:g.168101947G>A	VUS	2 labs	da30cca8b0
X:30327105 NR0B1 C>T	X	30327105	30327105	C	T	NR0B1	c.376G>A	NM_000475.4	NP_000466.2:p.(Val126Met)	NC_000023.10:g.30327105C>T	(Likely) benign	2 labs	da34d2de69
8:126090997 WASHC5 C>G	8	126090997	126090997	C	G	WASHC5	c.694G>C	NM_014846.3	NP_055661.3:p.(Asp232His)	NC_000008.10:g.126090997C>G	VUS	2 labs	da40d4147b
2:73114768 SPR C>G	2	73114768	73114768	C	G	SPR	c.207C>G	NM_003124.4	NP_003115.1:p.(Asp69Glu)	NC_000002.11:g.73114768C>G	VUS	2 labs	da432e21a1
12:9004394 A2ML1 A>C	12	9004394	9004394	A	C	A2ML1	c.2249A>C	NM_144670.5	NP_653271.2:p.(Glu750Ala)	NC_000012.11:g.9004394A>C	(Likely) benign	2 labs	da483a6339
18:28671037 DSC2 G>A	18	28671037	28671037	G	A	DSC2	c.428C>T	NM_024422.4	NP_077740.1:p.(Ser143Leu)	NC_000018.9:g.28671037G>A	VUS	2 labs	da4a726604
3:154862172 MME C>T	3	154862172	154862172	C	T	MME	c.1342C>T	NM_007289.3	NP_009220.2:p.(Arg448Ter)	NC_000003.11:g.154862172C>T	(Likely) pathogenic	2 labs	da4a84ca6f
3:136002730 PCCB C>T	3	136002730	136002730	C	T	PCCB	c.655C>T	NM_001178014.1	NP_001171485.1:p.(Pro219Ser)	NC_000003.11:g.136002730C>T	VUS	2 labs	da4ed0f834
7:147926888 CNTNAP2 A>C	7	147926888	147926888	A	C	CNTNAP2	c.3381+17A>C	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147926888A>C	(Likely) benign	3 labs	da58f3f6e8
4:6279229 WFS1 C>T	4	6279229	6279229	C	T	WFS1	c.47C>T	NM_006005.3	NP_005996.2:p.(Pro16Leu)	NC_000004.11:g.6279229C>T	(Likely) benign	2 labs	da5c36c3d0
1:215822039 USH2A C>T	1	215822039	215822039	C	T	USH2A	c.14413G>A	NM_206933.4	NP_996816.3:p.(Val4805Ile)	NC_000001.10:g.215822039C>T	VUS	3 labs	da5d3abf8d
15:100871162 ADAMTS17 T>C	15	100871162	100871162	T	C	ADAMTS17	c.548A>G	NM_139057.3	NP_620688.2:p.(Lys183Arg)	NC_000015.9:g.100871162T>C	(Likely) benign	2 labs	da73a8d616
20:10393162 MKKS A>C	20	10393162	10393162	A	C	MKKS	c.985+16T>G	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10393162A>C	(Likely) benign	2 labs	da7a5abcce
7:16131394 CRPPA G>T	7	16131394	16131394	G	T	CRPPA	c.1282C>A	NM_001101426.3	NP_001094896.1:p.(Gln428Lys)	NC_000007.13:g.16131394G>T	VUS	2 labs	da7dfcc60e
19:49469172 FTL A>G	19	49469172	49469172	A	G	FTL	c.248A>G	NM_000146.3	NP_000137.2:p.(Lys83Arg)	NC_000019.9:g.49469172A>G	(Likely) benign	2 labs	da7ed57c7f
7:33397562 BBS9 A>G	7	33397562	33397562	A	G	BBS9	c.1648A>G	NM_198428.3	NP_940820.1:p.(Ile550Val)	NC_000007.13:g.33397562A>G	(Likely) benign	3 labs	da822a3329
X:110973817 ALG13 TTAA>T	X	110973817	110973825	TTAA	T	ALG13	c.2457+15_2457+17del	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110973823_110973825del	(Likely) benign	2 labs	da85f22405
15:77324718 PSTPIP1 C>T	15	77324718	77324718	C	T	PSTPIP1	c.794C>T	NM_001321136.1	NP_001308065.1:p.(Thr265Met)	NC_000015.9:g.77324718C>T	VUS	2 labs	da86e8ba2d
5:70945016 MCCC2 A>G	5	70945016	70945016	A	G	MCCC2	c.1309A>G	NM_022132.4	NP_071415.1:p.(Ile437Val)	NC_000005.9:g.70945016A>G	(Likely) pathogenic	2 labs	da970298db
1:46660295 POMGNT1 T>C	1	46660295	46660295	T	C	POMGNT1	c.681A>G	NM_001243766.2	NP_001230695.2:p.(Lys227=)	NC_000001.10:g.46660295T>C	(Likely) benign	4 labs	da9f6cffc7
X:84569452 POF1B G>A	X	84569452	84569452	G	A	POF1B	c.943C>T	NM_024921.3	NP_079197.3:p.(Arg315Cys)	NC_000023.10:g.84569452G>A	(Likely) benign	2 labs	daa2fc2989
6:70981759 COL9A1 G>C	6	70981759	70981759	G	C	COL9A1	c.360+9C>G	NM_078485.4	NP_511040.2:p.?	NC_000006.11:g.70981759G>C	(Likely) benign	2 labs	daa25c0bb9
1:220331205 RAB3GAP2 C>G	1	220331205	220331205	C	G	RAB3GAP2	c.3275G>C	NM_012414.3	NP_036546.2:p.(Ser1092Thr)	NC_000001.10:g.220331205C>G	(Likely) benign	2 labs	daa7614ce6
13:32954251 BRCA2 AG>A	13	32954251	32954253	AG	A	BRCA2	c.9227del	NM_000059.4	NP_000050.3:p.(Gly3076AspfsTer7)	NC_000013.10:g.32954253del	(Likely) pathogenic	2 labs	daa8a9574e
2:219920329 IHH G>A	2	219920329	219920329	G	A	IHH	c.836C>T	NM_002181.3	NP_002172.2:p.(Thr279Met)	NC_000002.11:g.219920329G>A	(Likely) benign	2 labs	dab7a92190
17:57105793 TRIM37 T>C	17	57105793	57105793	T	C	TRIM37	c.2240A>G	NM_001353084.1	NP_001340013.1:p.(Asn747Ser)	NC_000017.10:g.57105793T>C	(Likely) benign	2 labs	daba3a330c
1:114394645 PTPN22 A>C	1	114394645	114394645	A	C	PTPN22	c.828+4T>G	NM_015967.7	NP_057051.3:p.?	NC_000001.10:g.114394645A>C	(Likely) benign	2 labs	dabe5d5bcd
X:30326881 NR0B1 G>C	X	30326881	30326881	G	C	NR0B1	c.600C>G	NM_000475.4	NP_000466.2:p.(Cys200Trp)	NC_000023.10:g.30326881G>C	(Likely) benign	3 labs	dac798b56a
11:66294252 BBS1 C>G	11	66294252	66294252	C	G	BBS1	c.1313C>G	NM_024649.4	NP_078925.3:p.(Thr438Arg)	NC_000011.9:g.66294252C>G	VUS	2 labs	dac95cb3e3
5:126791085 MEGF10 C>T	5	126791085	126791085	C	T	MEGF10	c.3026-8C>T	NM_032446.2	NP_115822.1:p.?	NC_000005.9:g.126791085C>T	(Likely) benign	2 labs	dacca85ad2
11:103152919 DYNC2H1 G>A	11	103152919	103152919	G	A	DYNC2H1	c.10794G>A	NM_001080463.2	NP_001073932.1:p.(Thr3598=)	NC_000011.9:g.103152919G>A	(Likely) benign	3 labs	dad31a73e6
6:31936719 SKIC2 G>A	6	31936719	31936719	G	A	SKIC2	c.3252G>A	NM_006929.4	NP_008860.4:p.(Met1084Ile)	NC_000006.11:g.31936719G>A	(Likely) benign	2 labs	dad70b24f7
14:23853816 MYH6 G>A	14	23853816	23853816	G	A	MYH6	c.5400C>T	NM_002471.4	NP_002462.2:p.(Asp1800=)	NC_000014.8:g.23853816G>A	(Likely) benign	3 labs	dad68378a9
2:234676999 UGT1A1 TA>T	2	234676999	234677001	TA	T	UGT1A1	c.1220del	NM_000463.3	NP_000454.1:p.(Lys407ArgfsTer5)	NC_000002.11:g.234677001del	(Likely) pathogenic	4 labs	dadee708dc
17:76130576 TMC8 C>T	17	76130576	76130576	C	T	TMC8	c.918C>T	NM_152468.4	NP_689681.2:p.(Asn306=)	NC_000017.10:g.76130576C>T	(Likely) benign	2 labs	dadb0498ff
17:41738823 MEOX1 G>A	17	41738823	41738823	G	A	MEOX1	c.80C>T	NM_004527.3	NP_004518.1:p.(Ser27Leu)	NC_000017.10:g.41738823G>A	(Likely) benign	2 labs	dadc16fa6d
2:170088305 LRP2 A>C	2	170088305	170088305	A	C	LRP2	c.5146T>G	NM_004525.3	NP_004516.2:p.(Ser1716Ala)	NC_000002.11:g.170088305A>C	VUS	2 labs	dae2199344
6:161771219 PRKN G>A	6	161771219	161771219	G	A	PRKN	c.1310C>T	NM_004562.3	NP_004553.2:p.(Pro437Leu)	NC_000006.11:g.161771219G>A	VUS	2 labs	daf08abc32
17:29553535 NF1 T>C	17	29553535	29553535	T	C	NF1	c.2084T>C	NM_000267.3	NP_000258.1:p.(Leu695Pro)	NC_000017.10:g.29553535T>C	(Likely) pathogenic	2 labs	daf35b4c81
13:28498718 PDX1 C>G	13	28498718	28498718	C	G	PDX1	c.732C>G	NM_000209.3	NP_000200.1:p.(Pro244=)	NC_000013.10:g.28498718C>G	(Likely) benign	2 labs	daf4128e91
6:49419396 MMUT A>G	6	49419396	49419396	A	G	MMUT	c.1115T>C	NM_000255.3	NP_000246.2:p.(Ile372Thr)	NC_000006.11:g.49419396A>G	VUS	2 labs	daf80eb0bd
X:152807121 ATP2B3 G>A	X	152807121	152807121	G	A	ATP2B3	c.407-6G>A	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152807121G>A	(Likely) benign	2 labs	daf902f590
1:146727553 CHD1L C>T	1	146727553	146727553	C	T	CHD1L	c.433C>T	NM_004284.5	NP_004275.4:p.(Arg145Cys)	NC_000001.10:g.146727553C>T	(Likely) benign	2 labs	dafcc33273
15:23891467 MAGEL2 C>A	15	23891467	23891467	C	A	MAGEL2	c.1423G>T	NM_019066.5	NP_061939.3:p.(Ala475Ser)	NC_000015.9:g.23891467C>A	(Likely) benign	4 labs	daff86525e
4:151821354 LRBA A>G	4	151821354	151821354	A	G	LRBA	c.1771T>C	NM_006726.4	NP_006717.2:p.(Tyr591His)	NC_000004.11:g.151821354A>G	VUS	3 labs	db076b080e
X:47478939 SYN1 C>A	X	47478939	47478939	C	A	SYN1	c.189G>T	NM_006950.3	NP_008881.2:p.(Pro63=)	NC_000023.10:g.47478939C>A	(Likely) benign	2 labs	db0ac708ff
10:21076224 NEBL G>A	10	21076224	21076224	G	A	NEBL	c.2775C>T	NM_006393.2	NP_006384.1:p.(Pro925=)	NC_000010.10:g.21076224G>A	(Likely) benign	2 labs	db0bb6da96
7:146805369 CNTNAP2 C>T	7	146805369	146805369	C	T	CNTNAP2	c.681C>T	NM_014141.5	NP_054860.1:p.(His227=)	NC_000007.13:g.146805369C>T	(Likely) benign	2 labs	db1040716f
X:153608037 EMD C>G	X	153608037	153608037	C	G	EMD	c.83-13C>G	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608037C>G	(Likely) benign	2 labs	db0f65cdd3
1:145507646 RBM8A G>A	1	145507646	145507646	G	A	RBM8A	c.-21G>A	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145507646G>A	(Likely) pathogenic	5 labs	db1afe36d2
3:45518046 LARS2 G>C	3	45518046	45518046	G	C	LARS2	c.945G>C	NM_015340.4	NP_056155.1:p.(Ser315=)	NC_000003.11:g.45518046G>C	(Likely) benign	2 labs	db18e8ba07
6:70984436 COL9A1 A>G	6	70984436	70984436	A	G	COL9A1	c.1015T>C	NM_001851.6	NP_001842.3:p.(Ser339Pro)	NC_000006.11:g.70984436A>G	(Likely) benign	4 labs	db2d37fcb4
2:179409079 TTN C>T	2	179409079	179409079	C	T	TTN	c.95877G>A	NM_001267550.2	NP_001254479.2:p.(Val31959=)	NC_000002.11:g.179409079C>T	(Likely) benign	4 labs	db3a7411cc
22:23653975 BCR T>TCCGG	22	23653975	23653979	T	TCCGG	BCR	c.3275_3278dup	NM_004327.4	NP_004318.3:p.(Val1094ArgfsTer17)	NC_000022.10:g.23653976_23653979dup	VUS	3 labs	db40436544
2:163128828 IFIH1 C>T	2	163128828	163128828	C	T	IFIH1	c.2524G>A	NM_022168.4	NP_071451.2:p.(Glu842Lys)	NC_000002.11:g.163128828C>T	VUS	2 labs	db40b7594b
11:76868392 MYO7A A>G	11	76868392	76868392	A	G	MYO7A	c.803A>G	NM_000260.3	NP_000251.3:p.(Lys268Arg)	NC_000011.9:g.76868392A>G	VUS	2 labs	db53042b95
15:77329409 PSTPIP1 C>T	15	77329409	77329409	C	T	PSTPIP1	c.1143C>T	NM_003978.3	NP_003969.2:p.(Ser381=)	NC_000015.9:g.77329409C>T	(Likely) benign	2 labs	db65a2055e
9:139089436 LHX3 C>G	9	139089436	139089436	C	G	LHX3	c.944G>C	NM_014564.5	NP_055379.1:p.(Arg315Pro)	NC_000009.11:g.139089436C>G	VUS	2 labs	db5eafb068
6:35467767 TULP1 C>T	6	35467767	35467767	C	T	TULP1	c.1486G>A	NM_003322.6	NP_003313.3:p.(Ala496Thr)	NC_000006.11:g.35467767C>T	(Likely) benign	2 labs	db5f019ab4
3:172165495 GHSR T>A	3	172165495	172165495	T	A	GHSR	c.709A>T	NM_198407.2	NP_940799.1:p.(Arg237Trp)	NC_000003.11:g.172165495T>A	VUS	2 labs	db6e9d6559
8:100733276 VPS13B G>T	8	100733276	100733276	G	T	VPS13B	c.7125+1G>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100733276G>T	(Likely) pathogenic	2 labs	db7200501f
7:91852259 KRIT1 AC>A	7	91852259	91852262	AC	A	KRIT1	c.1287del	NM_194454.3	NP_919436.1:p.(Ser430HisfsTer7)	NC_000007.13:g.91852262del	(Likely) pathogenic	2 labs	db7939e84e
X:70644043 TAF1 C>T	X	70644043	70644043	C	T	TAF1	c.4708C>T	NM_004606.5	NP_004597.3:p.(Leu1570=)	NC_000023.10:g.70644043C>T	(Likely) benign	2 labs	db7a9076e2
6:7579760 DSP C>T	6	7579760	7579760	C	T	DSP	c.3337C>T	NM_004415.4	NP_004406.2:p.(Arg1113Ter)	NC_000006.11:g.7579760C>T	(Likely) pathogenic	4 labs	db83350d55
6:51612752 PKHD1 G>A	6	51612752	51612752	G	A	PKHD1	c.9662C>T	NM_138694.4	NP_619639.3:p.(Pro3221Leu)	NC_000006.11:g.51612752G>A	VUS	3 labs	db8e9aff89
3:123444768 MYLK G>C	3	123444768	123444768	G	C	MYLK	c.1651+23C>G	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123444768G>C	(Likely) benign	2 labs	db8fb30ba2
1:237754015 RYR2 A>G	1	237754015	237754015	A	G	RYR2	c.3883A>G	NM_001035.2	NP_001026.2:p.(Ser1295Gly)	NC_000001.10:g.237754015A>G	VUS	2 labs	db970bfcb2
20:42744587 JPH2 G>C	20	42744587	42744587	G	C	JPH2	c.1728C>G	NM_020433.5	NP_065166.2:p.(Pro576=)	NC_000020.10:g.42744587G>C	(Likely) benign	4 labs	db9404579f
7:47851455 PKD1L1 C>T	7	47851455	47851455	C	T	PKD1L1	c.7541G>A	NM_138295.4	NP_612152.1:p.(Arg2514His)	NC_000007.13:g.47851455C>T	(Likely) benign	2 labs	db9fbe7075
2:179528601 TTN G>A	2	179528601	179528601	G	A	TTN	c.36393C>T	NM_001267550.1	NP_001254479.1:p.(Arg12131=)	NC_000002.11:g.179528601G>A	(Likely) benign	2 labs	dba6baeb3a
3:49137193 QARS1 C>G	3	49137193	49137193	C	G	QARS1	c.1388+1G>C	NM_005051.2	NP_005042.1:p.?	NC_000003.11:g.49137193C>G	VUS	2 labs	dba8091033
9:13206038 MPDZ T>C	9	13206038	13206038	T	C	MPDZ	c.1351A>G	NM_003829.4	NP_003820.2:p.(Thr451Ala)	NC_000009.11:g.13206038T>C	VUS	2 labs	dbac99e060
20:10632891 JAG1 A>G	20	10632891	10632891	A	G	JAG1	c.894T>C	NM_000214.3	NP_000205.1:p.(Asn298=)	NC_000020.10:g.10632891A>G	(Likely) benign	2 labs	dba7634548
1:243471328 SDCCAG8 C>G	1	243471328	243471328	C	G	SDCCAG8	c.778C>G	NM_006642.5	NP_006633.1:p.(Leu260Val)	NC_000001.10:g.243471328C>G	VUS	2 labs	dba9361e0e
15:99500625 IGF1R G>A	15	99500625	99500625	G	A	IGF1R	c.4058G>A	NM_000875.4	NP_000866.1:p.(Arg1353His)	NC_000015.9:g.99500625G>A	VUS	2 labs	dbb14dacc7
21:45713737 AIRE C>T	21	45713737	45713737	C	T	AIRE				NC_000021.8:g.45713737C>T	(Likely) benign	2 labs	dbc76c8e4f
13:31898038 B3GLCT G>T	13	31898038	31898038	G	T	B3GLCT	c.1329+6G>T	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31898038G>T	(Likely) benign	2 labs	dbc7abe161
11:68174091 LRP5 T>G	11	68174091	68174091	T	G	LRP5	c.158T>G	NM_001291902.1	NP_001278831.1:p.(Leu53Arg)	NC_000011.9:g.68174091T>G	VUS	2 labs	dbcbff1a5b
14:105236727 AKT1 C>T	14	105236727	105236727	C	T	AKT1	c.1394G>A	NM_005163.2	NP_005154.2:p.(Arg465His)	NC_000014.8:g.105236727C>T	VUS	2 labs	dbccee3747
3:100962644 IMPG2 C>T	3	100962644	100962644	C	T	IMPG2	c.2531G>A	NM_016247.4	NP_057331.2:p.(Arg844Gln)	NC_000003.11:g.100962644C>T	(Likely) benign	2 labs	dbd0436864
21:47664746 MCM3AP C>T	21	47664746	47664746	C	T	MCM3AP	c.5013G>A	NM_003906.5	NP_003897.2:p.(Pro1671=)	NC_000021.8:g.47664746C>T	(Likely) benign	2 labs	dbd4ed797f
X:31366743 DMD G>A	X	31366743	31366743	G	A	DMD	c.8724C>T	NM_004010.3	NP_004001.1:p.(Val2908=)	NC_000023.10:g.31366743G>A	(Likely) benign	2 labs	dbd5c34d1d
4:170345819 NEK1 G>C	4	170345819	170345819	G	C	NEK1	c.3107C>G	NM_001199397.1	NP_001186326.1:p.(Ser1036Ter)	NC_000004.11:g.170345819G>C	(Likely) pathogenic	2 labs	dbe3557be5
18:32345983 DTNA G>A	18	32345983	32345983	G	A	DTNA	c.126G>A	NM_001198939.2	NP_001185868.1:p.(Arg42=)	NC_000018.9:g.32345983G>A	(Likely) benign	3 labs	dbf98c88ff
20:2397883 TGM6 C>T	20	2397883	2397883	C	T	TGM6	c.1342C>T	NM_198994.3	NP_945345.2:p.(Arg448Trp)	NC_000020.10:g.2397883C>T	(Likely) benign	2 labs	dbfc8e6c7c
2:179645958 TTN T>C	2	179645958	179645958	T	C	TTN	c.3413A>G	NM_001267550.1	NP_001254479.1:p.(Glu1138Gly)	NC_000002.11:g.179645958T>C	VUS	2 labs	dbfa2e7304
1:152281523 FLG A>C	1	152281523	152281523	A	C	FLG	c.5839T>G	NM_002016.1	NP_002007.1:p.(Trp1947Gly)	NC_000001.10:g.152281523A>C	(Likely) benign	2 labs	dc00e002f6
13:23985391 SACS T>C	13	23985391	23985391	T	C	SACS	c.-13A>G	NM_014363.5	NP_055178.3:p.?	NC_000013.10:g.23985391T>C	(Likely) benign	2 labs	dc03274e71
X:70367619 NLGN3 C>T	X	70367619	70367619	C	T	NLGN3	c.20C>T	NM_181303.1	NP_851820.1:p.(Pro7Leu)	NC_000023.10:g.70367619C>T	(Likely) benign	2 labs	dc0454c1d9
21:46925126 COL18A1 C>T	21	46925126	46925126	C	T	COL18A1	c.4183C>T	NM_130444.3	NP_569711.2:p.(Arg1395Cys)	NC_000021.8:g.46925126C>T	VUS	2 labs	dc0f4c7f66
13:103524643 ERCC5 CT>C	13	103524643	103524644	CT	C	ERCC5	c.2775del	NM_000123.4	NP_000114.3:p.(Gly926AlafsTer56)	NC_000013.10:g.103524644del	(Likely) pathogenic	2 labs	dc10ae1806
9:140952712 CACNA1B C>T	9	140952712	140952712	C	T	CACNA1B	c.4308+10C>T	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140952712C>T	(Likely) benign	2 labs	dc17f375c4
1:152186091 HRNR C>T	1	152186091	152186091	C	T	HRNR	c.8014G>A	NM_001009931.2	NP_001009931.1:p.(Gly2672Arg)	NC_000001.10:g.152186091C>T	(Likely) benign	2 labs	dc1c52d40a
11:2411701 CD81 C>G	11	2411701	2411701	C	G	CD81	c.126C>G	NM_004356.3	NP_004347.1:p.(Thr42=)	NC_000011.9:g.2411701C>G	(Likely) benign	2 labs	dc1d36b316
7:94035620 COL1A2 A>T	7	94035620	94035620	A	T	COL1A2	c.594+5A>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94035620A>T	(Likely) benign	3 labs	dc1691d7e5
17:29586086 NF1 AAAG>A	17	29586086	29586094	AAAG	A	NF1	c.4375_4377del	NM_001042492.3	NP_001035957.1:p.(Glu1459del)	NC_000017.10:g.29586092_29586094del	(Likely) pathogenic	2 labs	dc22263049
9:37002776 PAX5 G>A	9	37002776	37002776	G	A	PAX5	c.476-3C>T	NM_016734.2	NP_057953.1:p.?	NC_000009.11:g.37002776G>A	(Likely) benign	2 labs	dc280fcc4c
18:2934451 LPIN2 G>A	18	2934451	2934451	G	A	LPIN2	c.1169-3C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2934451G>A	(Likely) benign	2 labs	dc33cc94bb
5:40964945 C7 C>T	5	40964945	40964945	C	T	C7	c.1852C>T	NM_000587.4	NP_000578.2:p.(Arg618Trp)	NC_000005.9:g.40964945C>T	VUS	2 labs	dc36ceffe4
7:130041802 CEP41 GA>G	7	130041802	130041807	GA	G	CEP41	c.575-14del	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130041807del	(Likely) benign	2 labs	dc3b7cef1b
17:36059157 HNF1B G>C	17	36059157	36059157	G	C	HNF1B	c.1578C>G	NM_000458.3	NP_000449.1:p.(Ser526=)	NC_000017.10:g.36059157G>C	(Likely) benign	2 labs	dc3ba66fab
22:36692945 MYH9 C>T	22	36692945	36692945	C	T	MYH9	c.3216G>A	NM_002473.5	NP_002464.1:p.(Ala1072=)	NC_000022.10:g.36692945C>T	(Likely) benign	2 labs	dc3ca86660
16:2134359 TSC2 C>T	16	2134359	2134359	C	T	TSC2	c.4136C>T	NM_000548.3	NP_000539.2:p.(Ser1379Leu)	NC_000016.9:g.2134359C>T	(Likely) benign	2 labs	dc3e22203c
14:103369593 TRAF3 G>A	14	103369593	103369593	G	A	TRAF3	c.962G>A	NM_145725.2	NP_663777.1:p.(Arg321Gln)	NC_000014.8:g.103369593G>A	(Likely) benign	3 labs	dc4c8b680d
12:94725601 CEP83 A>G	12	94725601	94725601	A	G	CEP83	c.1582T>C	NM_016122.2	NP_057206.2:p.(Leu528=)	NC_000012.11:g.94725601A>G	(Likely) benign	2 labs	dc56cb1a62
17:70120111 SOX9 G>A	17	70120111	70120111	G	A	SOX9	c.1113G>A	NM_000346.3	NP_000337.1:p.(Ala371=)	NC_000017.10:g.70120111G>A	(Likely) benign	2 labs	dc5970c87a
21:47851636 PCNT G>A	21	47851636	47851636	G	A	PCNT	c.8258G>A	NM_006031.5	NP_006022.3:p.(Arg2753His)	NC_000021.8:g.47851636G>A	(Likely) benign	2 labs	dc5b5c8c4c
2:219920292 IHH C>T	2	219920292	219920292	C	T	IHH	c.873G>A	NM_002181.3	NP_002172.2:p.(Arg291=)	NC_000002.11:g.219920292C>T	(Likely) benign	2 labs	dc5b8299f8
2:152515688 NEB G>GA	2	152515688	152515695	G	GA	NEB	c.5971-6dup	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152515695dup	(Likely) benign	3 labs	dc5d9a241b
19:44015619 ETHE1 G>A	19	44015619	44015619	G	A	ETHE1	c.475C>T	NM_014297.4	NP_055112.2:p.(Arg159Cys)	NC_000019.9:g.44015619G>A	VUS	2 labs	dc81e87a44
1:197102745 ASPM A>G	1	197102745	197102745	A	G	ASPM	c.2174-20T>C	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197102745A>G	(Likely) benign	3 labs	dc87a665d3
16:89347862 ANKRD11 G>C	16	89347862	89347862	G	C	ANKRD11	c.5088C>G	NM_001256182.1	NP_001243111.1:p.(Asp1696Glu)	NC_000016.9:g.89347862G>C	(Likely) benign	2 labs	dc8ce8ba10
16:1652546 IFT140 G>A	16	1652546	1652546	G	A	IFT140	c.194C>T	NM_014714.3	NP_055529.2:p.(Ala65Val)	NC_000016.9:g.1652546G>A	(Likely) benign	2 labs	dc8e9d8e2d
2:174223463 CDCA7 G>A	2	174223463	174223463	G	A	CDCA7	c.45G>A	NM_031942.4	NP_114148.3:p.(Lys15=)	NC_000002.11:g.174223463G>A	(Likely) benign	2 labs	dc911c8ec8
2:48027113 MSH6 C>G	2	48027113	48027113	C	G	MSH6	c.1991C>G	NM_000179.3	NP_000170.1:p.(Ser664Ter)	NC_000002.11:g.48027113C>G	(Likely) pathogenic	3 labs	dca141f30e
8:55542143 RP1 C>T	8	55542143	55542143	C	T	RP1	c.5701C>T	NM_006269.2	NP_006260.1:p.(Leu1901Phe)	NC_000008.10:g.55542143C>T	(Likely) benign	2 labs	dc9fc6276a
1:155874287 RIT1 A>G	1	155874287	155874287	A	G	RIT1	c.244T>C	NM_006912.6	NP_008843.1:p.(Phe82Leu)	NC_000001.10:g.155874287A>G	(Likely) pathogenic	2 labs	dca585cbf6
22:18561240 PEX26 C>T	22	18561240	18561240	C	T	PEX26	c.98C>T	NM_001127649.2	NP_001121121.1:p.(Pro33Leu)	NC_000022.10:g.18561240C>T	(Likely) benign	2 labs	dcabc69f64
1:196882038 CFHR4 A>T	1	196882038	196882038	A	T	CFHR4	c.1166A>T	NM_001201550.3	NP_001188479.1:p.(Gln389Leu)	NC_000001.10:g.196882038A>T	(Likely) benign	2 labs	dcad87aac8
2:204821494 ICOS C>G	2	204821494	204821494	C	G	ICOS	c.501+6C>G	NM_012092.3	NP_036224.1:p.?	NC_000002.11:g.204821494C>G	(Likely) benign	2 labs	dcb71cac3a
4:123664428 BBS12 A>C	4	123664428	123664428	A	C	BBS12	c.1381A>C	NM_152618.3	NP_689831.2:p.(Asn461His)	NC_000004.11:g.123664428A>C	(Likely) benign	3 labs	dcb1d58d16
7:6045549 PMS2 C>A	7	6045549	6045549	C	A	PMS2	c.137G>T	NM_000535.7	NP_000526.2:p.(Ser46Ile)	NC_000007.13:g.6045549C>A	(Likely) pathogenic	5 labs	dcbf325f30
9:5126747 JAK2 C>G	9	5126747	5126747	C	G	JAK2	c.3355C>G	NM_001322194.1	NP_001309123.1:p.(Leu1119Val)	NC_000009.11:g.5126747C>G	VUS	2 labs	dcd13d1dd7
15:31212744 FAN1 T>C	15	31212744	31212744	T	C	FAN1	c.1944-4T>C	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31212744T>C	(Likely) benign	3 labs	dcc8bd8990
21:47552341 COL6A2 G>A	21	47552341	47552341	G	A	COL6A2	c.2935G>A	NM_001849.3	NP_001840.3:p.(Asp979Asn)	NC_000021.8:g.47552341G>A	VUS	2 labs	dce290a1a9
6:33132230 COL11A2 C>G	6	33132230	33132230	C	G	COL11A2	c.4884G>C	NM_080680.2	NP_542411.2:p.(Glu1628Asp)	NC_000006.11:g.33132230C>G	(Likely) benign	3 labs	dce51f4349
9:133948049 LAMC3 A>G	9	133948049	133948049	A	G	LAMC3	c.3244A>G	NM_006059.4	NP_006050.3:p.(Ser1082Gly)	NC_000009.11:g.133948049A>G	(Likely) benign	2 labs	dce9172570
2:179621137 TTN A>G	2	179621137	179621137	A	G	TTN	c.11066T>C	NM_001267550.1	NP_001254479.1:p.(Ile3689Thr)	NC_000002.11:g.179621137A>G	(Likely) benign	2 labs	dce9a8a44d
17:48263786 COL1A1 G>A	17	48263786	48263786	G	A	COL1A1	c.3897C>T	NM_000088.4	NP_000079.2:p.(Cys1299=)	NC_000017.10:g.48263786G>A	(Likely) benign	3 labs	dcec97a022
3:123166575 ADCY5 A>G	3	123166575	123166575	A	G	ADCY5	c.818T>C	NM_183357.3	NP_899200.1:p.(Val273Ala)	NC_000003.11:g.123166575A>G	VUS	3 labs	dcf553a964
3:38595990 SCN5A G>A	3	38595990	38595990	G	A	SCN5A	c.4593C>T	NM_198056.3	NP_932173.1:p.(Asp1531=)	NC_000003.11:g.38595990G>A	(Likely) benign	4 labs	dcf4403986
5:37816112 GDNF G>A	5	37816112	37816112	G	A	GDNF	c.328C>T	NM_001190468.1	NP_001177397.1:p.(Arg110Trp)	NC_000005.9:g.37816112G>A	(Likely) benign	3 labs	dd02d1b22e
9:32488096 RIGI G>A	9	32488096	32488096	G	A	RIGI	c.1059C>T	NM_014314.3	NP_055129.2:p.(Asn353=)	NC_000009.11:g.32488096G>A	(Likely) benign	2 labs	dd06033aec
19:55449447 NLRP7 G>A	19	55449447	55449447	G	A	NLRP7	c.2094C>T	NM_001127255.1	NP_001120727.1:p.(His698=)	NC_000019.9:g.55449447G>A	(Likely) benign	2 labs	dd08a90cc4
20:49509063 ADNP G>A	20	49509063	49509063	G	A	ADNP	c.2188C>T	NM_001282531.2	NP_001269460.1:p.(Arg730Ter)	NC_000020.10:g.49509063G>A	(Likely) pathogenic	2 labs	dd11f17468
2:179432712 TTN T>C	2	179432712	179432712	T	C	TTN	c.78147A>G	NM_001267550.2	NP_001254479.2:p.(Gln26049=)	NC_000002.11:g.179432712T>C	(Likely) benign	4 labs	dd0db16fc8
12:111885351 SH2B3 A>ATGGGG	12	111885351	111885376	A	ATGGGG	SH2B3	c.1236+24_1236+28dup	NM_005475.2	NP_005466.1:p.?	NC_000012.11:g.111885372_111885376dup	(Likely) benign	2 labs	dd18dd2213
4:5630470 EVC2 TA>T	4	5630470	5630481	TA	T	EVC2	c.1711-10del	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5630481del	(Likely) benign	2 labs	dd1b0eb595
9:140094509 TPRN G>T	9	140094509	140094509	G	T	TPRN	c.655C>A	NM_001128228.3	NP_001121700.2:p.(Arg219Ser)	NC_000009.11:g.140094509G>T	VUS	2 labs	dd2523be6b
8:145540277 DGAT1 G>A	8	145540277	145540277	G	A	DGAT1	c.1407C>T	NM_012079.5	NP_036211.2:p.(Val469=)	NC_000008.10:g.145540277G>A	(Likely) benign	2 labs	dd27144bd3
12:48379594 COL2A1 G>A	12	48379594	48379594	G	A	COL2A1	c.1597C>T	NM_001844.4	NP_001835.3:p.(Arg533Ter)	NC_000012.11:g.48379594G>A	(Likely) pathogenic	2 labs	dd2a5bf92c
17:65822380 BPTF AGAC>A	17	65822380	65822396	AGAC	A	BPTF	c.554_556del	NM_182641.4	NP_872579.2:p.(Asp185del)	NC_000017.10:g.65822394_65822396del	(Likely) benign	2 labs	dd339efb31
1:158607894 SPTA1 G>A	1	158607894	158607894	G	A	SPTA1	c.5118C>T	NM_003126.3	NP_003117.2:p.(His1706=)	NC_000001.10:g.158607894G>A	(Likely) benign	2 labs	dd36c05771
3:180372580 CCDC39 A>T	3	180372580	180372580	A	T	CCDC39	c.900T>A	NM_181426.2	NP_852091.1:p.(His300Gln)	NC_000003.11:g.180372580A>T	(Likely) benign	2 labs	dd3c6727b0
7:120450618 TSPAN12 C>G	7	120450618	120450618	C	G	TSPAN12	c.367G>C	NM_012338.4	NP_036470.1:p.(Val123Leu)	NC_000007.13:g.120450618C>G	(Likely) benign	2 labs	dd4050e49e
7:6013153 PMS2 A>G	7	6013153	6013153	A	G	PMS2	c.2466T>C	NM_000535.5	NP_000526.1:p.(Leu822=)	NC_000007.13:g.6013153A>G	(Likely) benign	2 labs	dd4691650e
1:78407805 NEXN GAGA>G	1	78407805	78407818	GAGA	G	NEXN	c.1582_1584del	NM_144573.4	NP_653174.3:p.(Glu528del)	NC_000001.10:g.78407816_78407818del	(Likely) benign	3 labs	dd4d05c18a
9:108382330 FKTN G>GA	9	108382330	108382337	G	GA	FKTN	c.1167dup	NM_001079802.2	NP_001073270.1:p.(Phe390IlefsTer14)	NC_000009.11:g.108382337dup	(Likely) pathogenic	2 labs	dd6331f439
X:74641731 ZDHHC15 C>G	X	74641731	74641731	C	G	ZDHHC15	c.831G>C	NM_144969.2	NP_659406.1:p.(Lys277Asn)	NC_000023.10:g.74641731C>G	(Likely) benign	2 labs	dd656d26ee
3:77617558 ROBO2 T>C	3	77617558	77617558	T	C	ROBO2	c.1956T>C	NM_001290040.1	NP_001276969.1:p.(Thr652=)	NC_000003.11:g.77617558T>C	(Likely) benign	2 labs	dd69c71a07
19:50794261 MYH14 G>C	19	50794261	50794261	G	C	MYH14	c.5083G>C	NM_001145809.2	NP_001139281.1:p.(Gly1695Arg)	NC_000019.9:g.50794261G>C	(Likely) benign	3 labs	dd63d4c243
21:47766895 PCNT G>A	21	47766895	47766895	G	A	PCNT	c.959G>A	NM_006031.5	NP_006022.3:p.(Arg320Lys)	NC_000021.8:g.47766895G>A	(Likely) benign	2 labs	dd7af60aba
1:112298797 DDX20 G>A	1	112298797	112298797	G	A	DDX20	c.251G>A	NM_007204.5	NP_009135.4:p.(Arg84Lys)	NC_000001.10:g.112298797G>A	(Likely) benign	2 labs	dd7fdbd693
8:22277207 SLC39A14 G>A	8	22277207	22277207	G	A	SLC39A14	c.1475G>A	NM_015359.6	NP_056174.2:p.(Gly492Glu)	NC_000008.10:g.22277207G>A	VUS	3 labs	dd8219619c
19:41863821 B9D2 G>A	19	41863821	41863821	G	A	B9D2	c.195C>T	NM_030578.3	NP_085055.2:p.(Phe65=)	NC_000019.9:g.41863821G>A	(Likely) benign	2 labs	dd8918bf18
X:10423004 MID1 G>A	X	10423004	10423004	G	A	MID1	c.1561C>T	NM_000381.4	NP_000372.1:p.(Arg521Cys)	NC_000023.10:g.10423004G>A	(Likely) benign	2 labs	dd946ff14f
11:108137951 ATM TG>T	11	108137951	108137952	TG	T	ATM	c.2521del	NM_000051.4	NP_000042.3:p.(Asp841IlefsTer6)	NC_000011.9:g.108137952del	(Likely) pathogenic	4 labs	dd9d2b20ba
19:13319693 CACNA1A A>G	19	13319693	13319693	A	G	CACNA1A	c.6675T>C	NM_023035.3	NP_075461.2:p.(His2225=)	NC_000019.9:g.13319693A>G	(Likely) benign	5 labs	dda2e9e810
X:50377194 SHROOM4 G>A	X	50377194	50377194	G	A	SHROOM4	c.1879C>T	NM_020717.3	NP_065768.2:p.(Pro627Ser)	NC_000023.10:g.50377194G>A	(Likely) benign	2 labs	dda5d43a84
1:11854018 MTHFR C>T	1	11854018	11854018	C	T	MTHFR	c.1476G>A	NM_005957.5	NP_005948.3:p.(Pro492=)	NC_000001.10:g.11854018C>T	(Likely) benign	3 labs	dda3044130
13:32932091 BRCA2 G>T	13	32932091	32932091	G	T	BRCA2	c.7805+25G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32932091G>T	(Likely) benign	2 labs	ddaf7de9a6
2:179519462 TTN T>C	2	179519462	179519462	T	C	TTN	c.38206+10A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179519462T>C	(Likely) benign	2 labs	ddb4ddbbdf
X:114871166 PLS3 G>A	X	114871166	114871166	G	A	PLS3	c.701G>A	NM_001282337.1	NP_001269266.1:p.(Arg234Gln)	NC_000023.10:g.114871166G>A	(Likely) benign	2 labs	ddbb85c781
10:121436717 BAG3 C>A	10	121436717	121436717	C	A	BAG3	c.1651C>A	NM_004281.3	NP_004272.2:p.(Gln551Lys)	NC_000010.10:g.121436717C>A	(Likely) benign	2 labs	ddbea57775
7:21659645 DNAH11 T>C	7	21659645	21659645	T	C	DNAH11	c.4449T>C	NM_001277115.2	NP_001264044.1:p.(Ile1483=)	NC_000007.13:g.21659645T>C	(Likely) benign	2 labs	ddbee35552
2:179406200 TTN A>G	2	179406200	179406200	A	G	TTN	c.97604T>C	NM_001267550.1	NP_001254479.1:p.(Ile32535Thr)	NC_000002.11:g.179406200A>G	VUS	2 labs	ddcf6fa0d7
13:32912262 BRCA2 CA>C	13	32912262	32912264	CA	C	BRCA2	c.3772del	NM_000059.4	NP_000050.3:p.(Ile1258Ter)	NC_000013.10:g.32912264del	(Likely) pathogenic	2 labs	dde154fc17
14:23863035 MYH6 T>G	14	23863035	23863035	T	G	MYH6	c.2768A>C	NM_002471.4	NP_002462.2:p.(Glu923Ala)	NC_000014.8:g.23863035T>G	VUS	2 labs	ddec066d3f
17:41245466 BRCA1 G>A	17	41245466	41245466	G	A	BRCA1	c.2082C>T	NM_007294.4	NP_009225.1:p.(Ser694=)	NC_000017.10:g.41245466G>A	(Likely) benign	6 labs	ddef216f37
7:6042267 PMS2 G>A	7	6042267	6042267	G	A	PMS2	c.354C>T	NM_000535.7	NP_000526.2:p.(Ser118=)	NC_000007.13:g.6042267G>A	(Likely) benign	2 labs	ddef61870e
11:71155200 DHCR7 C>T	11	71155200	71155200	C	T	DHCR7	c.160G>A	NM_001360.2	NP_001351.2:p.(Val54Ile)	NC_000011.9:g.71155200C>T	VUS	2 labs	ddf62574cf
6:56458551 DST G>A	6	56458551	56458551	G	A	DST	c.6279C>T	NM_001144769.2	NP_001138241.1:p.(Asp2093=)	NC_000006.11:g.56458551G>A	(Likely) benign	2 labs	ddf834ff68
16:2159272 PKD1 C>T	16	2159272	2159272	C	T	PKD1	c.5896G>A	NM_001009944.2	NP_001009944.2:p.(Val1966Met)	NC_000016.9:g.2159272C>T	(Likely) benign	2 labs	de03ddf883
19:13386708 CACNA1A G>A	19	13386708	13386708	G	A	CACNA1A	c.3957C>T	NM_023035.2	NP_075461.2:p.(Leu1319=)	NC_000019.9:g.13386708G>A	(Likely) benign	2 labs	de12227f16
16:85952234 IRF8 C>T	16	85952234	85952234	C	T	IRF8	c.843C>T	NM_001363907.1	NP_001350836.1:p.(Phe281=)	NC_000016.9:g.85952234C>T	(Likely) benign	2 labs	de128d3aa9
5:112175503 APC C>A	5	112175503	112175503	C	A	APC				NC_000005.9:g.112175503C>A	(Likely) benign	2 labs	de1724da65
1:237054460 MTR A>T	1	237054460	237054460	A	T	MTR	c.3035A>T	NM_000254.2	NP_000245.2:p.(Asp1012Val)	NC_000001.10:g.237054460A>T	VUS	2 labs	de19ff1cce
2:21234915 APOB A>G	2	21234915	21234915	A	G	APOB	c.4825T>C	NM_000384.3	NP_000375.3:p.(Leu1609=)	NC_000002.11:g.21234915A>G	(Likely) benign	2 labs	de1605d8b4
2:179435390 TTN G>A	2	179435390	179435390	G	A	TTN	c.75469C>T	NM_001267550.2	NP_001254479.2:p.(Arg25157Ter)	NC_000002.11:g.179435390G>A	(Likely) pathogenic	2 labs	de2127cab0
1:94543278 ABCA4 G>A	1	94543278	94543278	G	A	ABCA4	c.1522C>T	NM_000350.2	NP_000341.2:p.(Arg508Cys)	NC_000001.10:g.94543278G>A	(Likely) pathogenic	2 labs	de23950ebb
6:33156201 COL11A2 C>T	6	33156201	33156201	C	T	COL11A2	c.544G>A	NM_080680.2	NP_542411.2:p.(Val182Ile)	NC_000006.11:g.33156201C>T	(Likely) benign	2 labs	de25dc35a0
2:172291616 DCAF17 C>T	2	172291616	172291616	C	T	DCAF17	c.150C>T	NM_025000.4	NP_079276.2:p.(Val50=)	NC_000002.11:g.172291616C>T	(Likely) benign	3 labs	de52c34e2e
8:145739069 RECQL4 G>T	8	145739069	145739069	G	T	RECQL4	c.2086C>A	NM_004260.3	NP_004251.3:p.(Arg696Ser)	NC_000008.10:g.145739069G>T	VUS	2 labs	de59177302
2:179598516 TTN T>C	2	179598516	179598516	T	C	TTN	c.15600A>G	NM_001267550.1	NP_001254479.1:p.(Thr5200=)	NC_000002.11:g.179598516T>C	(Likely) benign	2 labs	de592092af
12:114803954 TBX5 G>A	12	114803954	114803954	G	A	TBX5	c.982+16C>T	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114803954G>A	(Likely) benign	2 labs	de59b5ade4
1:161479663 FCGR2A A>G	1	161479663	161479663	A	G	FCGR2A	c.418A>G	NM_001136219.1	NP_001129691.1:p.(Met140Val)	NC_000001.10:g.161479663A>G	(Likely) benign	2 labs	de68aa6368
8:87591364 CNGB3 T>C	8	87591364	87591364	T	C	CNGB3	c.1898A>G	NM_019098.4	NP_061971.3:p.(Asp633Gly)	NC_000008.10:g.87591364T>C	VUS	2 labs	de6d6da812
1:196643090 CFH G>A	1	196643090	196643090	G	A	CFH	c.348G>A	NM_000186.3	NP_000177.2:p.(Glu116=)	NC_000001.10:g.196643090G>A	(Likely) benign	3 labs	de6e52483e
X:153172083 AVPR2 G>A	X	153172083	153172083	G	A	AVPR2	c.1017G>A	NM_000054.5	NP_000045.1:p.(Leu339=)	NC_000023.10:g.153172083G>A	(Likely) benign	2 labs	de6ffc93d5
19:4097337 MAP2K2 G>A	19	4097337	4097337	G	A	MAP2K2	c.924C>T	NM_030662.3	NP_109587.1:p.(His308=)	NC_000019.9:g.4097337G>A	(Likely) benign	2 labs	de829cd8e6
X:46359940 ZNF674 G>T	X	46359940	46359940	G	T	ZNF674	c.1084C>A	NM_001039891.2	NP_001034980.1:p.(His362Asn)	NC_000023.10:g.46359940G>T	(Likely) benign	2 labs	de8bb918f5
3:10191605 VHL C>T	3	10191605	10191605	C	T	VHL	c.598C>T	NM_000551.4	NP_000542.1:p.(Arg200Trp)	NC_000003.11:g.10191605C>T	(Likely) pathogenic	4 labs	de9557b8a7
15:73624464 HCN4 G>A	15	73624464	73624464	G	A	HCN4	c.1371+8C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73624464G>A	(Likely) benign	4 labs	de8cd137f9
9:133924401 LAMC3 G>A	9	133924401	133924401	G	A	LAMC3	c.1520-6G>A	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133924401G>A	(Likely) benign	2 labs	de9942acd6
7:146829564 CNTNAP2 C>T	7	146829564	146829564	C	T	CNTNAP2	c.1311C>T	NM_014141.5	NP_054860.1:p.(Ile437=)	NC_000007.13:g.146829564C>T	(Likely) benign	2 labs	de97c0cfa6
2:48028225 MSH6 C>T	2	48028225	48028225	C	T	MSH6	c.3103C>T	NM_000179.3	NP_000170.1:p.(Arg1035Ter)	NC_000002.11:g.48028225C>T	(Likely) pathogenic	4 labs	de971361f0
7:117267579 CFTR C>T	7	117267579	117267579	C	T	CFTR	c.3472C>T	NM_000492.4	NP_000483.3:p.(Arg1158Ter)	NC_000007.13:g.117267579C>T	(Likely) pathogenic	3 labs	dea22e08c0
1:201342349 TNNT2 C>T	1	201342349	201342349	C	T	TNNT2	c.34G>A	NM_001001430.1	NP_001001430.1:p.(Glu12Lys)	NC_000001.10:g.201342349C>T	VUS	2 labs	dea214bb10
5:138858039 STING1 C>A	5	138858039	138858039	C	A	STING1	c.575G>T	NM_198282.4	NP_938023.1:p.(Gly192Val)	NC_000005.9:g.138858039C>A	(Likely) benign	2 labs	dea7fd0ff4
13:111098183 COL4A2 G>A	13	111098183	111098183	G	A	COL4A2	c.965G>A	NM_001846.3	NP_001837.2:p.(Arg322Gln)	NC_000013.10:g.111098183G>A	VUS	2 labs	dea8a2c8ac
20:62630406 PRPF6 C>T	20	62630406	62630406	C	T	PRPF6	c.780C>T	NM_012469.4	NP_036601.2:p.(Asp260=)	NC_000020.10:g.62630406C>T	(Likely) benign	2 labs	dea4b1afa5
13:111145633 COL4A2 C>T	13	111145633	111145633	C	T	COL4A2	c.3634+4C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111145633C>T	(Likely) benign	2 labs	deadb5e6c2
X:48386663 EBP C>T	X	48386663	48386663	C	T	EBP	c.511C>T	NM_006579.3	NP_006570.1:p.(Arg171Cys)	NC_000023.10:g.48386663C>T	(Likely) benign	3 labs	debbb41a24
1:12016982 PLOD1 G>A	1	12016982	12016982	G	A	PLOD1	c.793G>A	NM_001316320.1	NP_001303249.1:p.(Val265Met)	NC_000001.10:g.12016982G>A	VUS	2 labs	debb815f24
16:143225 NPRL3 G>A	16	143225	143225	G	A	NPRL3	c.948C>T	NM_001243249.1	NP_001230178.1:p.(Ser316=)	NC_000016.9:g.143225G>A	(Likely) benign	2 labs	debf06087d
5:13820548 DNAH5 C>T	5	13820548	13820548	C	T	DNAH5	c.6748G>A	NM_001369.2	NP_001360.1:p.(Glu2250Lys)	NC_000005.9:g.13820548C>T	VUS	2 labs	debfb26082
13:32907290 BRCA2 G>A	13	32907290	32907290	G	A	BRCA2	c.1675G>A	NM_000059.4	NP_000050.3:p.(Asp559Asn)	NC_000013.10:g.32907290G>A	(Likely) benign	2 labs	ded386af42
15:23892078 MAGEL2 G>C	15	23892078	23892078	G	C	MAGEL2	c.812C>G	NM_019066.5	NP_061939.3:p.(Pro271Arg)	NC_000015.9:g.23892078G>C	(Likely) benign	2 labs	ded08944e0
5:37187522 CPLANE1 G>A	5	37187522	37187522	G	A	CPLANE1	c.4074C>T	NM_023073.4	NP_075561.3:p.(Ile1358=)	NC_000005.9:g.37187522G>A	(Likely) benign	3 labs	ded59f5fb5
6:152655330 SYNE1 C>T	6	152655330	152655330	C	T	SYNE1	c.12394G>A	NM_033071.4	NP_149062.2:p.(Glu4132Lys)	NC_000006.11:g.152655330C>T	(Likely) benign	2 labs	deef75278f
X:25031554 ARX C>A	X	25031554	25031554	C	A	ARX	c.558G>T	NM_139058.2	NP_620689.1:p.(Pro186=)	NC_000023.10:g.25031554C>A	(Likely) benign	2 labs	def8cc0f4a
4:79458320 FRAS1 C>T	4	79458320	79458320	C	T	FRAS1	c.11264C>T	NM_025074.7	NP_079350.5:p.(Pro3755Leu)	NC_000004.11:g.79458320C>T	VUS	2 labs	df01ce149c
8:102585965 GRHL2 C>T	8	102585965	102585965	C	T	GRHL2	c.756C>T	NM_001330593.1	NP_001317522.1:p.(Thr252=)	NC_000008.10:g.102585965C>T	(Likely) benign	2 labs	df0609725a
X:68060503 EFNB1 C>T	X	68060503	68060503	C	T	EFNB1	c.*6C>T	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68060503C>T	(Likely) benign	2 labs	df06d20d15
12:6059041 VWF G>C	12	6059041	6059041	G	C	VWF	c.8164C>G	NM_000552.3	NP_000543.2:p.(Pro2722Ala)	NC_000012.11:g.6059041G>C	VUS	2 labs	df0ec98056
3:124303696 KALRN C>T	3	124303696	124303696	C	T	KALRN	c.28C>T	NM_007064.5	NP_008995.2:p.(Arg10Ter)	NC_000003.11:g.124303696C>T	VUS	2 labs	df1282ef2c
8:145699735 FOXH1 G>C	8	145699735	145699735	G	C	FOXH1	c.984C>G	NM_003923.3	NP_003914.1:p.(Asp328Glu)	NC_000008.10:g.145699735G>C	(Likely) benign	3 labs	df16bb62df
2:179397091 TTN C>G	2	179397091	179397091	C	G	TTN	c.104251G>C	NM_001267550.2	NP_001254479.2:p.(Ala34751Pro)	NC_000002.11:g.179397091C>G	(Likely) benign	3 labs	df106f7e8b
12:49445704 KMT2D A>G	12	49445704	49445704	A	G	KMT2D	c.1762T>C	NM_003482.3	NP_003473.3:p.(Ser588Pro)	NC_000012.11:g.49445704A>G	(Likely) benign	2 labs	df1afc090e
5:127680185 FBN2 C>A	5	127680185	127680185	C	A	FBN2	c.3235G>T	NM_001999.4	NP_001990.2:p.(Ala1079Ser)	NC_000005.9:g.127680185C>A	(Likely) benign	4 labs	df1f8ec607
21:47532287 COL6A2 C>T	21	47532287	47532287	C	T	COL6A2	c.510C>T	NM_058175.3	NP_478055.2:p.(Cys170=)	NC_000021.8:g.47532287C>T	(Likely) benign	4 labs	df2177ccba
7:92077091 GATAD1 G>A	7	92077091	92077091	G	A	GATAD1	c.48G>A	NM_021167.4	NP_066990.3:p.(Ser16=)	NC_000007.13:g.92077091G>A	(Likely) benign	2 labs	df259ba417
X:123020281 XIAP C>G	X	123020281	123020281	C	G	XIAP	c.769C>G	NM_001167.3	NP_001158.2:p.(Pro257Ala)	NC_000023.10:g.123020281C>G	(Likely) benign	2 labs	df2e3d96ad
5:89939702 ADGRV1 C>T	5	89939702	89939702	C	T	ADGRV1	c.2636C>T	NM_032119.4	NP_115495.3:p.(Thr879Met)	NC_000005.9:g.89939702C>T	VUS	2 labs	df34bdc70c
X:147030322 FMR1 C>T	X	147030322	147030322	C	T	FMR1	c.1586C>T	NM_001185075.1	NP_001172004.1:p.(Thr529Ile)	NC_000023.10:g.147030322C>T	(Likely) benign	2 labs	df413ab13a
4:79236779 FRAS1 C>T	4	79236779	79236779	C	T	FRAS1	c.1710C>T	NM_025074.7	NP_079350.5:p.(Pro570=)	NC_000004.11:g.79236779C>T	(Likely) benign	2 labs	df41672f05
11:6630632 ILK C>T	11	6630632	6630632	C	T	ILK	c.721C>T	NM_001014795.3	NP_001014795.1:p.(Arg241Trp)	NC_000011.9:g.6630632C>T	VUS	3 labs	df472aaaec
4:88537069 DSPP T>C	4	88537069	88537069	T	C	DSPP	c.3255T>C	NM_014208.3	NP_055023.2:p.(Ser1085=)	NC_000004.11:g.88537069T>C	(Likely) benign	2 labs	df56af63ac
5:1879664 IRX4 G>A	5	1879664	1879664	G	A	IRX4	c.768C>T	NM_001278635.1	NP_001265564.1:p.(Gly256=)	NC_000005.9:g.1879664G>A	VUS	2 labs	df6569b321
5:127710426 FBN2 T>A	5	127710426	127710426	T	A	FBN2	c.1990A>T	NM_001999.3	NP_001990.2:p.(Thr664Ser)	NC_000005.9:g.127710426T>A	VUS	2 labs	df660c16bd
1:203054984 MYOG C>G	1	203054984	203054984	C	G	MYOG	c.106G>C	NM_002479.6	NP_002470.2:p.(Glu36Gln)	NC_000001.10:g.203054984C>G	(Likely) benign	2 labs	df70ac0130
2:48132711 FBXO11 T>G	2	48132711	48132711	T	G	FBXO11	c.149A>C	NM_001190274.1	NP_001177203.1:p.(Gln50Pro)	NC_000002.11:g.48132711T>G	(Likely) benign	2 labs	df72d1e105
19:13372340 CACNA1A C>T	19	13372340	13372340	C	T	CACNA1A	c.4186G>A	NM_023035.2	NP_075461.2:p.(Val1396Met)	NC_000019.9:g.13372340C>T	(Likely) pathogenic	2 labs	df790b0372
15:89399936 ACAN G>A	15	89399936	89399936	G	A	ACAN	c.4120G>A	NM_013227.3	NP_037359.3:p.(Gly1374Arg)	NC_000015.9:g.89399936G>A	(Likely) benign	2 labs	df7f5d1386
18:31324142 ASXL3 C>T	18	31324142	31324142	C	T	ASXL3	c.4330C>T	NM_030632.2	NP_085135.1:p.(Arg1444Ter)	NC_000018.9:g.31324142C>T	(Likely) pathogenic	2 labs	df80c38866
X:12938386 TLR8 C>T	X	12938386	12938386	C	T	TLR8	c.1281C>T	NM_016610.3	NP_057694.2:p.(Ile427=)	NC_000023.10:g.12938386C>T	(Likely) benign	2 labs	df812b50d6
10:124339274 DMBT1 C>A	10	124339274	124339274	C	A	DMBT1	c.860C>A	NM_007329.2	NP_015568.2:p.(Ala287Asp)	NC_000010.10:g.124339274C>A	VUS	2 labs	df8f7a485c
6:7542229 DSP C>A	6	7542229	7542229	C	A	DSP	c.81C>A	NM_004415.4	NP_004406.2:p.(Arg27=)	NC_000006.11:g.7542229C>A	(Likely) benign	4 labs	df9d7dddb9
2:166909352 SCN1A T>C	2	166909352	166909352	T	C	SCN1A	c.694+10A>G	NM_001165963.2	NP_001159435.1:p.?	NC_000002.11:g.166909352T>C	(Likely) benign	3 labs	dfa59068a5
1:154574954 ADAR G>A	1	154574954	154574954	G	A	ADAR	c.164C>T	NM_001111.5	NP_001102.3:p.(Pro55Leu)	NC_000001.10:g.154574954G>A	VUS	2 labs	dfa9d9f376
18:56939850 RAX G>T	18	56939850	56939850	G	T	RAX	c.290-4C>A	NM_013435.3	NP_038463.2:p.?	NC_000018.9:g.56939850G>T	(Likely) benign	2 labs	dfa8f49b27
12:52184271 SCN8A T>C	12	52184271	52184271	T	C	SCN8A	c.4509T>C	NM_014191.4	NP_055006.1:p.(Pro1503=)	NC_000012.11:g.52184271T>C	(Likely) benign	3 labs	dfb7cf6947
20:10627717 JAG1 G>A	20	10627717	10627717	G	A	JAG1	c.1755C>T	NM_000214.3	NP_000205.1:p.(Asn585=)	NC_000020.10:g.10627717G>A	(Likely) benign	2 labs	dfba2b2dd4
16:50745091 NOD2 G>T	16	50745091	50745091	G	T	NOD2	c.1269G>T	NM_022162.1	NP_071445.1:p.(Val423=)	NC_000016.9:g.50745091G>T	(Likely) benign	2 labs	dfcdda97ae
18:44109190 LOXHD1 G>A	18	44109190	44109190	G	A	LOXHD1	c.4480C>T	NM_144612.6	NP_653213.6:p.(Arg1494Ter)	NC_000018.9:g.44109190G>A	(Likely) pathogenic	2 labs	dfce3f5634
21:46309915 ITGB2 G>A	21	46309915	46309915	G	A	ITGB2	c.1635C>T	NM_000211.3	NP_000202.2:p.(Asn545=)	NC_000021.8:g.46309915G>A	(Likely) benign	2 labs	dfcf9ced7f
4:106345450 PPA2 C>T	4	106345450	106345450	C	T	PPA2	c.558G>A	NM_176869.3	NP_789845.1:p.(Val186=)	NC_000004.11:g.106345450C>T	(Likely) benign	2 labs	dfc7920786
1:197070707 ASPM G>A	1	197070707	197070707	G	A	ASPM	c.7674C>T	NM_018136.5	NP_060606.3:p.(Ile2558=)	NC_000001.10:g.197070707G>A	(Likely) benign	3 labs	dfd08e2a96
1:55464922 BSND C>T	1	55464922	55464922	C	T	BSND	c.63C>T	NM_057176.3	NP_476517.1:p.(Leu21=)	NC_000001.10:g.55464922C>T	(Likely) benign	2 labs	dfd199c19b
11:119155976 CBL T>C	11	119155976	119155976	T	C	CBL	c.1641T>C	NM_005188.3	NP_005179.2:p.(Pro547=)	NC_000011.9:g.119155976T>C	(Likely) benign	2 labs	dfd19d917a
22:29885473 NEFH C>T	22	29885473	29885473	C	T	NEFH	c.1844C>T	NM_021076.4	NP_066554.2:p.(Pro615Leu)	NC_000022.10:g.29885473C>T	(Likely) benign	2 labs	dfd6484643
13:110817303 COL4A1 G>A	13	110817303	110817303	G	A	COL4A1	c.4056C>T	NM_001845.5	NP_001836.3:p.(Tyr1352=)	NC_000013.10:g.110817303G>A	(Likely) benign	3 labs	dfdc930356
9:139396919 NOTCH1 G>A	9	139396919	139396919	G	A	NOTCH1	c.5189C>T	NM_017617.5	NP_060087.3:p.(Pro1730Leu)	NC_000009.11:g.139396919G>A	(Likely) benign	2 labs	dfdd0e0546
1:237604748 RYR2 G>A	1	237604748	237604748	G	A	RYR2	c.1135G>A	NM_001035.3	NP_001026.2:p.(Val379Met)	NC_000001.10:g.237604748G>A	(Likely) benign	3 labs	dfe739a7e2
1:207941128 CD46 G>A	1	207941128	207941128	G	A	CD46	c.906G>A	NM_002389.4	NP_002380.3:p.(Ser302=)	NC_000001.10:g.207941128G>A	(Likely) benign	3 labs	dfe7714cd1
18:43531186 EPG5 C>T	18	43531186	43531186	C	T	EPG5	c.1271G>A	NM_020964.3	NP_066015.2:p.(Ser424Asn)	NC_000018.9:g.43531186C>T	(Likely) benign	4 labs	dfea00132f
15:65312614 MTFMT CA>C	15	65312614	65312628	CA	C	MTFMT	c.646-5del	NM_139242.4	NP_640335.2:p.?	NC_000015.9:g.65312628del	(Likely) benign	2 labs	dfea1974ea
11:68115682 LRP5 G>A	11	68115682	68115682	G	A	LRP5	c.459G>A	NM_002335.4	NP_002326.2:p.(Pro153=)	NC_000011.9:g.68115682G>A	(Likely) benign	2 labs	dfeca6f354
7:117174387 CFTR C>A	7	117174387	117174387	C	A	CFTR	c.547C>A	NM_000492.4	NP_000483.3:p.(Leu183Ile)	NC_000007.13:g.117174387C>A	VUS	2 labs	dff6329784
17:6380447 PITPNM3 C>T	17	6380447	6380447	C	T	PITPNM3	c.987G>A	NM_031220.4	NP_112497.2:p.(Leu329=)	NC_000017.10:g.6380447C>T	(Likely) benign	2 labs	dff7c0cb3c
16:160514 NPRL3 C>G	16	160514	160514	C	G	NPRL3	c.629+9G>C	NM_001077350.2	NP_001070818.1:p.?	NC_000016.9:g.160514C>G	(Likely) benign	2 labs	e002dba05a
15:89401276 ACAN G>A	15	89401276	89401276	G	A	ACAN	c.5460G>A	NM_013227.3	NP_037359.3:p.(Thr1820=)	NC_000015.9:g.89401276G>A	(Likely) benign	2 labs	e012aa87e0
X:53573716 HUWE1 A>G	X	53573716	53573716	A	G	HUWE1	c.10707T>C	NM_031407.7	NP_113584.3:p.(Phe3569=)	NC_000023.10:g.53573716A>G	(Likely) benign	3 labs	dffde92dcf
1:196977664 CFHR5 T>A	1	196977664	196977664	T	A	CFHR5	c.1561T>A	NM_030787.4	NP_110414.1:p.(Leu521Ile)	NC_000001.10:g.196977664T>A	(Likely) benign	2 labs	e01334f24a
15:48748913 FBN1 C>T	15	48748913	48748913	C	T	FBN1	c.5343G>A	NM_000138.5	NP_000129.3:p.(Val1781=)	NC_000015.9:g.48748913C>T	(Likely) benign	4 labs	e0252c4d29
13:32907431 BRCA2 C>T	13	32907431	32907431	C	T	BRCA2	c.1816C>T	NM_000059.4	NP_000050.3:p.(Pro606Ser)	NC_000013.10:g.32907431C>T	(Likely) benign	4 labs	e02fdb6462
7:151254284 PRKAG2 C>T	7	151254284	151254284	C	T	PRKAG2	c.*3G>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151254284C>T	(Likely) benign	2 labs	e0312307de
2:166740464 TTC21B C>T	2	166740464	166740464	C	T	TTC21B	c.3524G>A	NM_024753.4	NP_079029.3:p.(Arg1175Gln)	NC_000002.11:g.166740464C>T	(Likely) benign	2 labs	e032970ba2
7:146805228 CNTNAP2 T>TG	7	146805228	146805229	T	TG	CNTNAP2	c.551-11_551-10insG	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146805228_146805229insG	(Likely) benign	3 labs	e038c37333
10:43613843 RET G>T	10	43613843	43613843	G	T	RET	c.2307G>T	NM_020975.6	NP_066124.1:p.(Leu769=)	NC_000010.10:g.43613843G>T	(Likely) benign	2 labs	e03ece3ae7
10:16982151 CUBN G>A	10	16982151	16982151	G	A	CUBN	c.5428C>T	NM_001081.3	NP_001072.2:p.(Arg1810Ter)	NC_000010.10:g.16982151G>A	(Likely) pathogenic	4 labs	e03eeaeb90
1:92944314 GFI1 C>CAGAGAGAGAG	1	92944314	92944351	C	CAGAGAGAGAG	GFI1	c.925-14_925-5dup	NM_005263.3	NP_005254.2:p.?	NC_000001.10:g.92944342_92944351dup	(Likely) benign	2 labs	e0498f8cae
9:95480098 BICD2 G>A	9	95480098	95480098	G	A	BICD2	c.2239C>T	NM_001003800.1	NP_001003800.1:p.(Arg747Cys)	NC_000009.11:g.95480098G>A	(Likely) pathogenic	2 labs	e056b5bff1
5:89923101 ADGRV1 G>A	5	89923101	89923101	G	A	ADGRV1	c.746G>A	NM_032119.4	NP_115495.3:p.(Arg249Lys)	NC_000005.9:g.89923101G>A	(Likely) benign	3 labs	e05d04a91a
16:3707205 DNASE1 C>T	16	3707205	3707205	C	T	DNASE1	c.567C>T	NM_005223.3	NP_005214.2:p.(Gly189=)	NC_000016.9:g.3707205C>T	(Likely) benign	2 labs	e0654de2c5
7:69583206 AUTS2 A>G	7	69583206	69583206	A	G	AUTS2	c.611A>G	NM_015570.4	NP_056385.1:p.(Glu204Gly)	NC_000007.13:g.69583206A>G	(Likely) benign	2 labs	e07b481007
11:63990889 FERMT3 G>A	11	63990889	63990889	G	A	FERMT3	c.1929G>A	NM_178443.2	NP_848537.1:p.(Thr643=)	NC_000011.9:g.63990889G>A	(Likely) benign	2 labs	e0804fce90
9:100234786 TDRD7 G>A	9	100234786	100234786	G	A	TDRD7	c.1944+9G>A	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100234786G>A	(Likely) benign	2 labs	e08151ddd7
16:3293205 MEFV C>T	16	3293205	3293205	C	T	MEFV	c.2282G>A	NM_000243.2	NP_000234.1:p.(Arg761His)	NC_000016.9:g.3293205C>T	(Likely) pathogenic	4 labs	e0854e8fdb
10:50678369 ERCC6 T>C	10	50678369	50678369	T	C	ERCC6	c.3637A>G	NM_000124.4	NP_000115.1:p.(Arg1213Gly)	NC_000010.10:g.50678369T>C	(Likely) benign	3 labs	e08728bb2f
2:220285273 DES C>T	2	220285273	220285273	C	T	DES	c.792C>T	NM_001927.3	NP_001918.3:p.(Asp264=)	NC_000002.11:g.220285273C>T	(Likely) benign	2 labs	e0856bde10
4:994668 IDUA A>G	4	994668	994668	A	G	IDUA	c.386-2A>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.994668A>G	(Likely) pathogenic	2 labs	e086b44dc2
21:47783796 PCNT T>C	21	47783796	47783796	T	C	PCNT	c.2556T>C	NM_006031.6	NP_006022.3:p.(Ala852=)	NC_000021.8:g.47783796T>C	(Likely) benign	2 labs	e087e5ca80
5:1432686 SLC6A3 G>A	5	1432686	1432686	G	A	SLC6A3	c.546C>T	NM_001044.5	NP_001035.1:p.(Asn182=)	NC_000005.9:g.1432686G>A	(Likely) benign	3 labs	e08e3136b0
5:1403128 SLC6A3 G>A	5	1403128	1403128	G	A	SLC6A3	c.1676C>T	NM_001044.5	NP_001035.1:p.(Ala559Val)	NC_000005.9:g.1403128G>A	VUS	2 labs	e099207ef9
9:34647855 GALT C>T	9	34647855	34647855	C	T	GALT	c.404C>T	NM_000155.3	NP_000146.2:p.(Ser135Leu)	NC_000009.11:g.34647855C>T	(Likely) pathogenic	2 labs	e09cec5c68
X:53264327 IQSEC2 G>A	X	53264327	53264327	G	A	IQSEC2	c.3541C>T	NM_001111125.2	NP_001104595.1:p.(Pro1181Ser)	NC_000023.10:g.53264327G>A	(Likely) benign	2 labs	e09dcf2e63
13:23909770 SACS T>C	13	23909770	23909770	T	C	SACS	c.8245A>G	NM_014363.6	NP_055178.3:p.(Ile2749Val)	NC_000013.10:g.23909770T>C	VUS	2 labs	e0aa7f3e0c
5:67575569 PIK3R1 T>C	5	67575569	67575569	T	C	PIK3R1	c.634+8T>C	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67575569T>C	(Likely) benign	2 labs	e0ab6bba11
3:14172316 TMEM43 TC>T	3	14172316	14172319	TC	T	TMEM43	c.163-3del	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14172319del	(Likely) benign	5 labs	e0b6605035
X:48934309 WDR45 A>T	X	48934309	48934309	A	T	WDR45	c.339T>A	NM_007075.4	NP_009006.2:p.(His113Gln)	NC_000023.10:g.48934309A>T	(Likely) benign	2 labs	e0ba746967
22:36661827 APOL1 T>G	22	36661827	36661827	T	G	APOL1	c.993T>G	NM_145343.2	NP_663318.1:p.(Gly331=)	NC_000022.10:g.36661827T>G	(Likely) benign	2 labs	e0ce69694b
3:48619177 COL7A1 C>T	3	48619177	48619177	C	T	COL7A1	c.4684G>A	NM_000094.4	NP_000085.1:p.(Ala1562Thr)	NC_000003.11:g.48619177C>T	(Likely) benign	2 labs	e0dcfaa9fe
3:167508198 SERPINI1 G>A	3	167508198	167508198	G	A	SERPINI1	c.289G>A	NM_005025.5	NP_005016.1:p.(Val97Ile)	NC_000003.11:g.167508198G>A	(Likely) benign	2 labs	e0e1e66201
11:31531348 ELP4 C>T	11	31531348	31531348	C	T	ELP4	c.17C>T	NM_001288726.2	NP_001275655.1:p.(Thr6Ile)	NC_000011.9:g.31531348C>T	(Likely) benign	2 labs	e0efa9f169
16:2126143 TSC2 G>A	16	2126143	2126143	G	A	TSC2	c.2714G>A	NM_000548.3	NP_000539.2:p.(Arg905Gln)	NC_000016.9:g.2126143G>A	(Likely) pathogenic	2 labs	e0ebf09a3a
X:153219825 HCFC1 G>A	X	153219825	153219825	G	A	HCFC1	c.4025C>T	NM_005334.2	NP_005325.2:p.(Thr1342Met)	NC_000023.10:g.153219825G>A	(Likely) benign	2 labs	e0ef36011a
3:48602623 COL7A1 G>A	3	48602623	48602623	G	A	COL7A1	c.8539C>T	NM_000094.4	NP_000085.1:p.(Pro2847Ser)	NC_000003.11:g.48602623G>A	VUS	2 labs	e0f746069f
6:70991090 COL9A1 T>TA	6	70991090	70991091	T	TA	COL9A1	c.876+2dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70991091dup	(Likely) pathogenic	3 labs	e0fedde4cd
19:13428113 CACNA1A G>A	19	13428113	13428113	G	A	CACNA1A	c.1371C>T	NM_023035.2	NP_075461.2:p.(Ser457=)	NC_000019.9:g.13428113G>A	(Likely) benign	2 labs	e1102ea1f9
5:149500571 PDGFRB G>A	5	149500571	149500571	G	A	PDGFRB	c.2466C>T	NM_002609.4	NP_002600.1:p.(Cys822=)	NC_000005.9:g.149500571G>A	(Likely) benign	3 labs	e11377bfe7
16:79245626 WWOX C>T	16	79245626	79245626	C	T	WWOX	c.1178C>T	NM_016373.4	NP_057457.1:p.(Thr393Met)	NC_000016.9:g.79245626C>T	(Likely) benign	3 labs	e11e95f219
18:29104711 DSG2 C>T	18	29104711	29104711	C	T	DSG2	c.874C>T	NM_001943.5	NP_001934.2:p.(Arg292Cys)	NC_000018.9:g.29104711C>T	VUS	4 labs	e12228e9aa
2:240912967 NDUFA10 CACGATCAGCTTCAAGGAGGGA>C	2	240912967	240913030	CACGATCAGCTTCAAGGAGGGA	C	NDUFA10	c.1090_1110del	NM_001322019.2	NP_001308948.1:p.(Ser364_Arg370del)	NC_000002.11:g.240913010_240913030del	(Likely) benign	2 labs	e13147531c
5:37243130 CPLANE1 A>G	5	37243130	37243130	A	G	CPLANE1	c.662T>C	NM_023073.3	NP_075561.3:p.(Val221Ala)	NC_000005.9:g.37243130A>G	(Likely) benign	3 labs	e133415459
20:982728 RSPO4 C>T	20	982728	982728	C	T	RSPO4	c.79+1G>A	NM_001029871.3	NP_001025042.2:p.?	NC_000020.10:g.982728C>T	(Likely) pathogenic	3 labs	e1432fa990
16:51175722 SALL1 G>A	16	51175722	51175722	G	A	SALL1	c.120C>T	NM_001127892.1	NP_001121364.1:p.(Ser40=)	NC_000016.9:g.51175722G>A	(Likely) benign	2 labs	e145a5306a
1:207646531 CR2 A>T	1	207646531	207646531	A	T	CR2	c.1978+7A>T	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207646531A>T	(Likely) benign	2 labs	e14a0ac35c
13:39357287 FREM2 G>A	13	39357287	39357287	G	A	FREM2	c.5722G>A	NM_207361.5	NP_997244.4:p.(Gly1908Arg)	NC_000013.10:g.39357287G>A	VUS	2 labs	e14a809ad3
X:11317017 AMELX A>G	X	11317017	11317017	A	G	AMELX	c.536A>G	NM_182680.1	NP_872621.1:p.(Gln179Arg)	NC_000023.10:g.11317017A>G	VUS	2 labs	e14cf1038c
16:53656251 RPGRIP1L G>A	16	53656251	53656251	G	A	RPGRIP1L	c.3312C>T	NM_015272.4	NP_056087.2:p.(Pro1104=)	NC_000016.9:g.53656251G>A	(Likely) benign	2 labs	e14d35b429
9:139400253 NOTCH1 G>A	9	139400253	139400253	G	A	NOTCH1	c.4095C>T	NM_017617.5	NP_060087.3:p.(Ser1365=)	NC_000009.11:g.139400253G>A	(Likely) benign	2 labs	e153cc51e4
17:39925826 JUP G>C	17	39925826	39925826	G	C	JUP	c.312C>G	NM_002230.2	NP_002221.1:p.(Thr104=)	NC_000017.10:g.39925826G>C	(Likely) benign	2 labs	e15871b4d9
8:42129597 IKBKB A>G	8	42129597	42129597	A	G	IKBKB	c.-100-4A>G	NM_001242778.1	NP_001229707.1:p.?	NC_000008.10:g.42129597A>G	(Likely) benign	3 labs	e15935e86e
21:45750391 CFAP410 C>T	21	45750391	45750391	C	T	CFAP410	c.954G>A	NM_001271441.2	NP_001258370.1:p.(Thr318=)	NC_000021.8:g.45750391C>T	(Likely) benign	2 labs	e14be8ec94
7:117188852 CFTR T>C	7	117188852	117188852	T	C	CFTR	c.1367T>C	NM_000492.3	NP_000483.3:p.(Val456Ala)	NC_000007.13:g.117188852T>C	(Likely) pathogenic	2 labs	e15df99400
14:23858106 MYH6 C>T	14	23858106	23858106	C	T	MYH6	c.4137G>A	NM_002471.4	NP_002462.2:p.(Thr1379=)	NC_000014.8:g.23858106C>T	(Likely) benign	4 labs	e1759b4c8b
1:152283646 FLG T>G	1	152283646	152283646	T	G	FLG	c.3716A>C	NM_002016.1	NP_002007.1:p.(Glu1239Ala)	NC_000001.10:g.152283646T>G	(Likely) benign	2 labs	e1713b5f5c
X:77245079 ATP7A T>C	X	77245079	77245079	T	C	ATP7A	c.961T>C	NM_000052.7	NP_000043.4:p.(Tyr321His)	NC_000023.10:g.77245079T>C	VUS	2 labs	e178ea1a3e
9:140611568 EHMT1 G>A	9	140611568	140611568	G	A	EHMT1	c.576G>A	NM_024757.4	NP_079033.4:p.(Pro192=)	NC_000009.11:g.140611568G>A	(Likely) benign	2 labs	e17ae833ba
19:1398976 GAMT T>C	19	1398976	1398976	T	C	GAMT	c.509A>G	NM_138924.2	NP_620279.1:p.(Asn170Ser)	NC_000019.9:g.1398976T>C	VUS	2 labs	e181677bac
3:111319710 CD96 C>T	3	111319710	111319710	C	T	CD96	c.1084C>T	NM_198196.2	NP_937839.1:p.(Pro362Ser)	NC_000003.11:g.111319710C>T	VUS	2 labs	e184e683cc
17:29546035 NF1 C>T	17	29546035	29546035	C	T	NF1	c.1540C>T	NM_000267.3	NP_000258.1:p.(Gln514Ter)	NC_000017.10:g.29546035C>T	(Likely) pathogenic	2 labs	e1854820c5
11:31812304 PAX6 T>G	11	31812304	31812304	T	G	PAX6	c.1179A>C	NM_001604.5	NP_001595.2:p.(Thr393=)	NC_000011.9:g.31812304T>G	(Likely) benign	2 labs	e1865e2c5b
10:6067977 IL2RA C>G	10	6067977	6067977	C	G	IL2RA	c.76G>C	NM_000417.2	NP_000408.1:p.(Asp26His)	NC_000010.10:g.6067977C>G	(Likely) benign	2 labs	e187827478
2:135870769 RAB3GAP1 C>T	2	135870769	135870769	C	T	RAB3GAP1	c.411C>T	NM_001172435.1	NP_001165906.1:p.(Asp137=)	NC_000002.11:g.135870769C>T	(Likely) benign	2 labs	e187cc06fa
13:32893393 BRCA2 G>C	13	32893393	32893393	G	C	BRCA2	c.247G>C	NM_000059.3	NP_000050.2:p.(Glu83Gln)	NC_000013.10:g.32893393G>C	VUS	2 labs	e191f6ad9c
10:14950485 DCLRE1C T>C	10	14950485	14950485	T	C	DCLRE1C	c.1641A>G	NM_001289079.1	NP_001276008.1:p.(Leu547=)	NC_000010.10:g.14950485T>C	(Likely) benign	2 labs	e198e5d3a8
3:58140525 FLNB C>T	3	58140525	58140525	C	T	FLNB	c.6735C>T	NM_001164317.2	NP_001157789.1:p.(Phe2245=)	NC_000003.11:g.58140525C>T	(Likely) benign	2 labs	e18cc672c5
11:47362785 MYBPC3 GT>G	11	47362785	47362788	GT	G	MYBPC3	c.1800del	NM_000256.3	NP_000247.2:p.(Lys600AsnfsTer2)	NC_000011.9:g.47362788del	(Likely) pathogenic	3 labs	e1a425101f
10:112404362 RBM20 A>C	10	112404362	112404362	A	C	RBM20	c.150A>C	NM_001134363.3	NP_001127835.2:p.(Pro50=)	NC_000010.10:g.112404362A>C	(Likely) benign	3 labs	e1a4f8bdee
12:110226370 TRPV4 G>A	12	110226370	110226370	G	A	TRPV4	c.2043C>T	NM_021625.4	NP_067638.3:p.(Gly681=)	NC_000012.11:g.110226370G>A	(Likely) benign	2 labs	e1ace54f36
11:77832110 ALG8 C>T	11	77832110	77832110	C	T	ALG8	c.478+1G>A	NM_001007027.2	NP_001007028.1:p.?	NC_000011.9:g.77832110C>T	VUS	2 labs	e1af94bb9d
19:13341037 CACNA1A G>A	19	13341037	13341037	G	A	CACNA1A	c.5419-14C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13341037G>A	(Likely) benign	3 labs	e1b558d797
X:153296445 MECP2 G>A	X	153296445	153296445	G	A	MECP2	c.834C>T	NM_004992.3	NP_004983.1:p.(Ala278=)	NC_000023.10:g.153296445G>A	(Likely) benign	2 labs	e1b271ce47
9:139396538 NOTCH1 G>T	9	139396538	139396538	G	T	NOTCH1	c.5387C>A	NM_017617.5	NP_060087.3:p.(Pro1796His)	NC_000009.11:g.139396538G>T	VUS	3 labs	e1b255b5b6
3:159997061 IFT80 T>A	3	159997061	159997061	T	A	IFT80	c.1756A>T	NM_020800.2	NP_065851.1:p.(Thr586Ser)	NC_000003.11:g.159997061T>A	(Likely) benign	2 labs	e1c3441409
9:6556242 GLDC C>T	9	6556242	6556242	C	T	GLDC	c.2113G>A	NM_000170.2	NP_000161.2:p.(Val705Met)	NC_000009.11:g.6556242C>T	(Likely) benign	2 labs	e1c3c667f2
14:23895023 MYH7 G>A	14	23895023	23895023	G	A	MYH7	c.2167C>T	NM_000257.4	NP_000248.2:p.(Arg723Cys)	NC_000014.8:g.23895023G>A	(Likely) pathogenic	3 labs	e1c964dcdd
17:78184655 SGSH C>T	17	78184655	78184655	C	T	SGSH	c.1105G>A	NM_000199.4	NP_000190.1:p.(Glu369Lys)	NC_000017.10:g.78184655C>T	(Likely) pathogenic	2 labs	e1cc00cde6
5:127800487 FBN2 C>A	5	127800487	127800487	C	A	FBN2	c.756G>T	NM_001999.3	NP_001990.2:p.(Glu252Asp)	NC_000005.9:g.127800487C>A	VUS	2 labs	e1d00ae284
2:179440571 TTN C>T	2	179440571	179440571	C	T	TTN	c.70288G>A	NM_001267550.2	NP_001254479.2:p.(Val23430Ile)	NC_000002.11:g.179440571C>T	VUS	2 labs	e1d075737f
15:44865850 SPG11 G>A	15	44865850	44865850	G	A	SPG11	c.6100C>T	NM_025137.3	NP_079413.3:p.(Arg2034Ter)	NC_000015.9:g.44865850G>A	(Likely) pathogenic	3 labs	e1d261b90e
17:41276154 BRCA1 T>C	17	41276154	41276154	T	C	BRCA1	c.-19-22A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276154T>C	VUS	3 labs	e1d594e3d7
8:61765685 CHD7 A>G	8	61765685	61765685	A	G	CHD7				NC_000008.10:g.61765685A>G	(Likely) benign	2 labs	e1d6bafa2f
11:47371634 MYBPC3 T>G	11	47371634	47371634	T	G	MYBPC3	c.436A>C	NM_000256.3	NP_000247.2:p.(Thr146Pro)	NC_000011.9:g.47371634T>G	VUS	3 labs	e1d3b5bb2d
1:160275214 COPA T>C	1	160275214	160275214	T	C	COPA	c.1694+9A>G	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160275214T>C	(Likely) benign	2 labs	e1dc5abbf1
5:112154942 APC C>T	5	112154942	112154942	C	T	APC				NC_000005.9:g.112154942C>T	(Likely) pathogenic	2 labs	e1df6e32b9
5:1882120 IRX4 C>A	5	1882120	1882120	C	A	IRX4	c.99G>T	NM_001278635.1	NP_001265564.1:p.(Thr33=)	NC_000005.9:g.1882120C>A	(Likely) benign	2 labs	e1ebdace2a
16:88499585 ZNF469 C>T	16	88499585	88499585	C	T	ZNF469				NC_000016.9:g.88499585C>T	VUS	2 labs	e1eda25134
11:69631129 FGF3 G>A	11	69631129	69631129	G	A	FGF3				NC_000011.9:g.69631129G>A	(Likely) pathogenic	2 labs	e1ee2eafc1
1:241677035 FH T>A	1	241677035	241677035	T	A	FH	c.268-22A>T	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241677035T>A	(Likely) benign	3 labs	e1f3739a8b
15:49081189 CEP152 T>G	15	49081189	49081189	T	G	CEP152	c.982A>C	NM_001194998.1	NP_001181927.1:p.(Lys328Gln)	NC_000015.9:g.49081189T>G	(Likely) benign	2 labs	e1f41d4bd2
12:41327491 CNTN1 A>G	12	41327491	41327491	A	G	CNTN1	c.804-8A>G	NM_001843.3	NP_001834.2:p.?	NC_000012.11:g.41327491A>G	(Likely) benign	2 labs	e1f6ac8b71
5:138861229 STING1 C>T	5	138861229	138861229	C	T	STING1	c.61G>A	NM_198282.4	NP_938023.1:p.(Ala21Thr)	NC_000005.9:g.138861229C>T	(Likely) benign	2 labs	e1fb7c4924
10:104160934 NFKB2 C>T	10	104160934	104160934	C	T	NFKB2	c.2072-3C>T	NM_001288724.1	NP_001275653.1:p.?	NC_000010.10:g.104160934C>T	(Likely) benign	3 labs	e1ff2d53f2
1:27874042 AHDC1 G>A	1	27874042	27874042	G	A	AHDC1	c.4585C>T	NM_001029882.3	NP_001025053.1:p.(Arg1529Cys)	NC_000001.10:g.27874042G>A	(Likely) benign	2 labs	e2062ad5b3
17:6606325 SLC13A5 G>A	17	6606325	6606325	G	A	SLC13A5	c.680C>T	NM_177550.4	NP_808218.1:p.(Thr227Met)	NC_000017.10:g.6606325G>A	(Likely) pathogenic	3 labs	e205e8b33a
1:20964534 PINK1 C>T	1	20964534	20964534	C	T	PINK1	c.587C>T	NM_032409.3	NP_115785.1:p.(Pro196Leu)	NC_000001.10:g.20964534C>T	VUS	2 labs	e20e59b9d5
17:75398774 SEPTIN9 G>A	17	75398774	75398774	G	A	SEPTIN9	c.656G>A	NM_006640.4	NP_006631.2:p.(Arg219Gln)	NC_000017.10:g.75398774G>A	(Likely) benign	2 labs	e218f1414a
13:32915122 BRCA2 AGTTT>A	13	32915122	32915129	AGTTT	A	BRCA2	c.6634_6637del	NM_000059.4	NP_000050.3:p.(Cys2212LeufsTer16)	NC_000013.10:g.32915126_32915129del	(Likely) pathogenic	2 labs	e21bb96b4c
4:126412911 FAT4 A>G	4	126412911	126412911	A	G	FAT4	c.14940A>G	NM_001291303.1	NP_001278232.1:p.(Glu4980=)	NC_000004.11:g.126412911A>G	(Likely) benign	2 labs	e21c2ea489
14:23901712 MYH7 C>T	14	23901712	23901712	C	T	MYH7	c.506G>A	NM_000257.4	NP_000248.2:p.(Arg169Lys)	NC_000014.8:g.23901712C>T	VUS	2 labs	e21b45cbaf
21:46911132 COL18A1 C>T	21	46911132	46911132	C	T	COL18A1	c.2068-7C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46911132C>T	(Likely) benign	2 labs	e221c730b0
7:117180336 CFTR C>G	7	117180336	117180336	C	G	CFTR	c.1052C>G	NM_000492.3	NP_000483.3:p.(Thr351Ser)	NC_000007.13:g.117180336C>G	VUS	2 labs	e2227db422
16:89619501 SPG7 G>A	16	89619501	89619501	G	A	SPG7	c.1894G>A	NM_003119.3	NP_003110.1:p.(Gly632Arg)	NC_000016.9:g.89619501G>A	VUS	2 labs	e22c34cce3
3:9970088 IL17RC C>T	3	9970088	9970088	C	T	IL17RC	c.1190C>T	NM_153461.3	NP_703191.1:p.(Ala397Val)	NC_000003.11:g.9970088C>T	(Likely) benign	2 labs	e22ebae003
6:88226591 RARS2 C>T	6	88226591	88226591	C	T	RARS2	c.1519G>A	NM_020320.4	NP_064716.2:p.(Glu507Lys)	NC_000006.11:g.88226591C>T	VUS	2 labs	e231499642
7:142458414 PRSS1 C>T	7	142458414	142458414	C	T	PRSS1	c.49C>T	NM_002769.4	NP_002760.1:p.(Pro17Ser)	NC_000007.13:g.142458414C>T	(Likely) benign	2 labs	e232e9484e
12:6443327 TNFRSF1A A>C	12	6443327	6443327	A	C	TNFRSF1A	c.123T>G	NM_001065.4	NP_001056.1:p.(Asp41Glu)	NC_000012.11:g.6443327A>C	VUS	4 labs	e2378d8d20
17:73827396 UNC13D TGTGA>T	17	73827396	73827403	TGTGA	T	UNC13D	c.2477_2480del	NM_199242.3	NP_954712.1:p.(Leu826GlnfsTer20)	NC_000017.10:g.73827400_73827403del	(Likely) pathogenic	3 labs	e240e75bba
1:16376412 CLCNKB G>A	1	16376412	16376412	G	A	CLCNKB	c.968+1G>A	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16376412G>A	(Likely) pathogenic	3 labs	e247e5d01d
2:179595849 TTN C>T	2	179595849	179595849	C	T	TTN	c.17543G>A	NM_001267550.2	NP_001254479.2:p.(Gly5848Glu)	NC_000002.11:g.179595849C>T	(Likely) benign	4 labs	e252cf2c23
7:99704448 AP4M1 C>T	7	99704448	99704448	C	T	AP4M1	c.1305C>T	NM_004722.3	NP_004713.2:p.(Asn435=)	NC_000007.13:g.99704448C>T	(Likely) benign	2 labs	e25695bf9f
1:45974800 MMACHC ACCCGCC>A	1	45974800	45974809	ACCCGCC	A	MMACHC	c.766_771del	NM_015506.3	NP_056321.2:p.(Ala256_Pro257del)	NC_000001.10:g.45974804_45974809del	VUS	2 labs	e263137877
8:11606438 GATA4 C>T	8	11606438	11606438	C	T	GATA4	c.627C>T	NM_002052.4	NP_002043.2:p.(Asp209=)	NC_000008.10:g.11606438C>T	(Likely) benign	2 labs	e2792c0e73
18:34205470 FHOD3 C>T	18	34205470	34205470	C	T	FHOD3	c.958-4C>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34205470C>T	(Likely) benign	2 labs	e279b9ca0c
2:179650675 TTN G>A	2	179650675	179650675	G	A	TTN	c.2270C>T	NM_001267550.2	NP_001254479.2:p.(Pro757Leu)	NC_000002.11:g.179650675G>A	(Likely) benign	5 labs	e27baeb6de
16:8941663 PMM2 G>C	16	8941663	8941663	G	C	PMM2	c.722G>C	NM_000303.2	NP_000294.1:p.(Cys241Ser)	NC_000016.9:g.8941663G>C	(Likely) pathogenic	2 labs	e2906a533d
17:41199660 BRCA1 C>T	17	41199660	41199660	C	T	BRCA1	c.5467G>A	NM_007294.4	NP_009225.1:p.(Ala1823Thr)	NC_000017.10:g.41199660C>T	(Likely) pathogenic	5 labs	e2910f55ab
8:106813403 ZFPM2 T>C	8	106813403	106813403	T	C	ZFPM2	c.1093T>C	NM_012082.3	NP_036214.2:p.(Cys365Arg)	NC_000008.10:g.106813403T>C	VUS	2 labs	e29a81d56e
4:122766825 BBS7 TTA>T	4	122766825	122766829	TTA	T	BBS7	c.1062_1063del	NM_176824.3	NP_789794.1:p.(Tyr354Ter)	NC_000004.11:g.122766828_122766829del	(Likely) pathogenic	2 labs	e29c21d1f1
1:45796899 MUTYH C>G	1	45796899	45796899	C	G	MUTYH	c.1431G>C	NM_001128425.2	NP_001121897.1:p.(Thr477=)	NC_000001.10:g.45796899C>G	(Likely) benign	5 labs	e29f4dcbb8
8:96281292 CFAP418 C>G	8	96281292	96281292	C	G	CFAP418	c.126G>C	NM_177965.4	NP_808880.1:p.(Arg42=)	NC_000008.10:g.96281292C>G	(Likely) benign	2 labs	e29fd10d1f
2:179421567 TTN A>G	2	179421567	179421567	A	G	TTN	c.88306+8T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179421567A>G	(Likely) benign	2 labs	e2a595dde9
19:1810651 ATP8B3 C>T	19	1810651	1810651	C	T	ATP8B3	c.280G>A	NM_138813.3	NP_620168.1:p.(Glu94Lys)	NC_000019.9:g.1810651C>T	(Likely) benign	2 labs	e2b3daf269
2:179401078 TTN G>A	2	179401078	179401078	G	A	TTN	c.100396C>T	NM_001267550.1	NP_001254479.1:p.(Arg33466Cys)	NC_000002.11:g.179401078G>A	VUS	2 labs	e2b4f5b8fb
14:65220342 SPTB G>A	14	65220342	65220342	G	A	SPTB	c.6515C>T	NM_001024858.3	NP_001020029.1:p.(Pro2172Leu)	NC_000014.8:g.65220342G>A	(Likely) benign	2 labs	e2b77d2034
1:12008065 PLOD1 G>A	1	12008065	12008065	G	A	PLOD1	c.109G>A	NM_000302.3	NP_000293.2:p.(Glu37Lys)	NC_000001.10:g.12008065G>A	VUS	2 labs	e2b9c9a422
13:52516566 ATP7B G>A	13	52516566	52516566	G	A	ATP7B	c.3368C>T	NM_000053.4	NP_000044.2:p.(Pro1123Leu)	NC_000013.10:g.52516566G>A	(Likely) benign	2 labs	e2c4826827
2:219674320 CYP27A1 C>T	2	219674320	219674320	C	T	CYP27A1	c.276C>T	NM_000784.4	NP_000775.1:p.(Tyr92=)	NC_000002.11:g.219674320C>T	(Likely) benign	3 labs	e2cc416604
9:130954174 CIZ1 C>A	9	130954174	130954174	C	A	CIZ1	c.45G>T	NM_001257975.2	NP_001244904.1:p.(Ala15=)	NC_000009.11:g.130954174C>A	(Likely) benign	2 labs	e2d1c10967
19:46275054 DMPK G>A	19	46275054	46275054	G	A	DMPK	c.1507C>T	NM_001081563.2	NP_001075032.1:p.(Arg503Cys)	NC_000019.9:g.46275054G>A	VUS	2 labs	e2dd917c02
7:91830642 KRIT1 GCT>G	7	91830642	91830645	GCT	G	KRIT1	c.2119_2120del	NM_194454.3	NP_919436.1:p.(Ser707LeufsTer26)	NC_000007.13:g.91830644_91830645del	(Likely) pathogenic	2 labs	e2d6eb6273
11:103070010 DYNC2H1 C>T	11	103070010	103070010	C	T	DYNC2H1	c.7893C>T	NM_001080463.1	NP_001073932.1:p.(His2631=)	NC_000011.9:g.103070010C>T	(Likely) benign	2 labs	e2dae212ff
17:29679366 NF1 C>T	17	29679366	29679366	C	T	NF1	c.7486C>T	NM_000267.3	NP_000258.1:p.(Arg2496Ter)	NC_000017.10:g.29679366C>T	(Likely) pathogenic	2 labs	e2e797875f
9:75431129 TMC1 A>G	9	75431129	75431129	A	G	TMC1	c.1763+3A>G	NM_138691.2	NP_619636.2:p.?	NC_000009.11:g.75431129A>G	(Likely) pathogenic	3 labs	e2e90233a1
19:11097617 SMARCA4 C>T	19	11097617	11097617	C	T	SMARCA4	c.797C>T	NM_001128844.1	NP_001122316.1:p.(Ser266Leu)	NC_000019.9:g.11097617C>T	VUS	2 labs	e2f2ce171b
21:44492252 CBS G>A	21	44492252	44492252	G	A	CBS	c.52C>T	NM_001178008.2	NP_001171479.1:p.(Arg18Cys)	NC_000021.8:g.44492252G>A	(Likely) benign	3 labs	e2f49b715f
8:145739917 RECQL4 T>C	8	145739917	145739917	T	C	RECQL4	c.1621-8A>G	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145739917T>C	(Likely) benign	3 labs	e2fca46fc9
1:237604721 RYR2 C>T	1	237604721	237604721	C	T	RYR2	c.1108C>T	NM_001035.3	NP_001026.2:p.(Leu370=)	NC_000001.10:g.237604721C>T	(Likely) benign	4 labs	e2f5d46ded
17:78022378 CCDC40 C>G	17	78022378	78022378	C	G	CCDC40	c.677-4C>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78022378C>G	(Likely) benign	2 labs	e30074dfb9
21:47817316 PCNT G>A	21	47817316	47817316	G	A	PCNT	c.4354G>A	NM_006031.5	NP_006022.3:p.(Gly1452Arg)	NC_000021.8:g.47817316G>A	(Likely) benign	2 labs	e307b71cc4
7:117175380 CFTR C>T	7	117175380	117175380	C	T	CFTR	c.658C>T	NM_000492.3	NP_000483.3:p.(Gln220Ter)	NC_000007.13:g.117175380C>T	(Likely) pathogenic	2 labs	e30aa17f6f
2:233322286 ALPI C>T	2	233322286	233322286	C	T	ALPI	c.660C>T	NM_001631.5	NP_001622.2:p.(Gly220=)	NC_000002.11:g.233322286C>T	(Likely) benign	2 labs	e30ab07ddd
1:110172863 AMPD2 C>T	1	110172863	110172863	C	T	AMPD2	c.2154C>T	NM_001257360.1	NP_001244289.1:p.(Val718=)	NC_000001.10:g.110172863C>T	(Likely) benign	2 labs	e310a85fd7
6:152470773 SYNE1 T>G	6	152470773	152470773	T	G	SYNE1	c.24481A>C	NM_182961.3	NP_892006.3:p.(Asn8161His)	NC_000006.11:g.152470773T>G	(Likely) benign	2 labs	e3152bd7fe
4:6304189 WFS1 G>A	4	6304189	6304189	G	A	WFS1	c.2667G>A	NM_006005.3	NP_005996.2:p.(Ala889=)	NC_000004.11:g.6304189G>A	(Likely) benign	2 labs	e31a4eef24
1:245018885 HNRNPU A>G	1	245018885	245018885	A	G	HNRNPU	c.2193T>C	NM_031844.2	NP_114032.2:p.(Asn731=)	NC_000001.10:g.245018885A>G	(Likely) benign	2 labs	e31a72a493
9:133911598 LAMC3 A>G	9	133911598	133911598	A	G	LAMC3	c.855A>G	NM_006059.4	NP_006050.3:p.(Ala285=)	NC_000009.11:g.133911598A>G	(Likely) benign	2 labs	e31daa83b4
7:130051037 CEP41 T>C	7	130051037	130051037	T	C	CEP41	c.208-5A>G	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130051037T>C	(Likely) benign	3 labs	e3204fcf1a
11:103124135 DYNC2H1 T>G	11	103124135	103124135	T	G	DYNC2H1	c.10185T>G	NM_001080463.2	NP_001073932.1:p.(Thr3395=)	NC_000011.9:g.103124135T>G	(Likely) benign	3 labs	e32250be55
17:40767052 TUBG1 A>G	17	40767052	40767052	A	G	TUBG1	c.1349A>G	NM_001070.4	NP_001061.2:p.(Glu450Gly)	NC_000017.10:g.40767052A>G	VUS	2 labs	e32774c1a9
17:29686024 NF1 G>A	17	29686024	29686024	G	A	NF1	c.8088G>A	NM_000267.3	NP_000258.1:p.(Pro2696=)	NC_000017.10:g.29686024G>A	(Likely) benign	2 labs	e32996ae4c
12:81064225 MISSING C>T	12	81064225	81064225	C	T	MISSING				NC_000012.11:g.81064225C>T	(Likely) pathogenic	2 labs	e329979f51
5:169122948 DOCK2 G>A	5	169122948	169122948	G	A	DOCK2	c.979+6G>A	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169122948G>A	(Likely) benign	2 labs	e32ab426f8
1:33502381 AK2 G>C	1	33502381	33502381	G	C	AK2	c.49C>G	NM_001625.4	NP_001616.1:p.(Arg17Gly)	NC_000001.10:g.33502381G>C	VUS	3 labs	e3323a80f0
1:154245965 HAX1 A>T	1	154245965	154245965	A	T	HAX1	c.207A>T	NM_006118.3	NP_006109.2:p.(Pro69=)	NC_000001.10:g.154245965A>T	(Likely) benign	3 labs	e332d33484
2:179395560 TTN G>A	2	179395560	179395560	G	A	TTN	c.105782C>T	NM_001267550.2	NP_001254479.2:p.(Pro35261Leu)	NC_000002.11:g.179395560G>A	(Likely) benign	3 labs	e330b3708b
10:89501072 PAPSS2 C>T	10	89501072	89501072	C	T	PAPSS2	c.1167C>T	NM_001015880.1	NP_001015880.1:p.(Asp389=)	NC_000010.10:g.89501072C>T	(Likely) benign	2 labs	e33fe63a84
19:42383644 CD79A C>A	19	42383644	42383644	C	A	CD79A	c.419C>A	NM_001783.4	NP_001774.1:p.(Thr140Asn)	NC_000019.9:g.42383644C>A	VUS	2 labs	e34954047d
5:13845107 DNAH5 A>G	5	13845107	13845107	A	G	DNAH5	c.5115-5T>C	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13845107A>G	(Likely) benign	2 labs	e349e6268e
1:198711113 PTPRC C>T	1	198711113	198711113	C	T	PTPRC	c.2519C>T	NM_002838.5	NP_002829.3:p.(Ala840Val)	NC_000001.10:g.198711113C>T	VUS	2 labs	e351853b58
19:1467926 APC2 G>A	19	1467926	1467926	G	A	APC2	c.4626G>A	NM_005883.2	NP_005874.1:p.(Pro1542=)	NC_000019.9:g.1467926G>A	(Likely) benign	2 labs	e34ebb15f3
1:40766942 COL9A2 G>C	1	40766942	40766942	G	C	COL9A2	c.1982C>G	NM_001852.4	NP_001843.1:p.(Pro661Arg)	NC_000001.10:g.40766942G>C	VUS	4 labs	e35b0f14d6
12:13724793 GRIN2B T>C	12	13724793	13724793	T	C	GRIN2B	c.2116A>G	NM_000834.4	NP_000825.2:p.(Met706Val)	NC_000012.11:g.13724793T>C	(Likely) pathogenic	3 labs	e35e6d0f2b
X:57021244 SPIN3 C>T	X	57021244	57021244	C	T	SPIN3	c.137G>A	NM_001010862.3	NP_001010862.2:p.(Arg46Gln)	NC_000023.10:g.57021244C>T	(Likely) benign	2 labs	e362f77383
16:3779158 CREBBP G>A	16	3779158	3779158	G	A	CREBBP	c.5890C>T	NM_004380.3	NP_004371.2:p.(Arg1964Cys)	NC_000016.9:g.3779158G>A	VUS	2 labs	e369c92be1
11:47358943 MYBPC3 G>A	11	47358943	47358943	G	A	MYBPC3	c.2601C>T	NM_000256.3	NP_000247.2:p.(Ile867=)	NC_000011.9:g.47358943G>A	(Likely) benign	6 labs	e375e9203f
X:77112282 MAGT1 C>A	X	77112282	77112282	C	A	MAGT1	c.716G>T	NM_032121.5	NP_115497.4:p.(Arg239Ile)	NC_000023.10:g.77112282C>A	VUS	3 labs	e37d8518a6
7:158468355 NCAPG2 G>A	7	158468355	158468355	G	A	NCAPG2	c.1147-7C>T	NM_001281933.1	NP_001268862.1:p.?	NC_000007.13:g.158468355G>A	(Likely) benign	2 labs	e385ac52f4
17:78063996 CCDC40 ACGCAGGCACGTGCACGAAGAACACGGGACGCG>A	17	78063996	78064046	ACGCAGGCACGTGCACGAAGAACACGGGACGCG	A	CCDC40	c.2910_2941del	NM_001243342.2	NP_001230271.1:p.(Lys970AsnfsTer113)	NC_000017.10:g.78064015_78064046del	(Likely) benign	3 labs	e39aefd322
X:77528515 CYSLTR1 T>A	X	77528515	77528515	T	A	CYSLTR1	c.729A>T	NM_001282187.1	NP_001269116.1:p.(Leu243Phe)	NC_000023.10:g.77528515T>A	(Likely) benign	2 labs	e399b114f1
15:23892617 MAGEL2 C>T	15	23892617	23892617	C	T	MAGEL2	c.273G>A	NM_019066.5	NP_061939.3:p.(Pro91=)	NC_000015.9:g.23892617C>T	(Likely) benign	2 labs	e3931aea4f
12:98921656 TMPO G>A	12	98921656	98921656	G	A	TMPO	c.280-8G>A	NM_003276.2	NP_003267.1:p.?	NC_000012.11:g.98921656G>A	(Likely) benign	3 labs	e3ab7958b5
5:89979589 ADGRV1 G>A	5	89979589	89979589	G	A	ADGRV1	c.5851G>A	NM_032119.4	NP_115495.3:p.(Val1951Ile)	NC_000005.9:g.89979589G>A	(Likely) benign	4 labs	e3ba85f455
3:123452844 MYLK C>T	3	123452844	123452844	C	T	MYLK	c.999G>A	NM_053025.4	NP_444253.3:p.(Pro333=)	NC_000003.11:g.123452844C>T	(Likely) benign	4 labs	e3b5a8d334
1:74957907 TNNI3K G>C	1	74957907	74957907	G	C	TNNI3K	c.2308G>C	NM_015978.3	NP_057062.1:p.(Glu770Gln)	NC_000001.10:g.74957907G>C	VUS	2 labs	e3c463c9ca
15:38643207 SPRED1 T>C	15	38643207	38643207	T	C	SPRED1	c.685-8T>C	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38643207T>C	(Likely) benign	2 labs	e3c04308c7
20:50407966 SALL4 C>T	20	50407966	50407966	C	T	SALL4	c.1056G>A	NM_020436.5	NP_065169.1:p.(Ala352=)	NC_000020.10:g.50407966C>T	(Likely) benign	3 labs	e3c8653da9
8:145007355 PLEC C>G	8	145007355	145007355	C	G	PLEC	c.1829+10G>C	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145007355C>G	(Likely) benign	3 labs	e3ccd80e38
5:40972630 C7 G>A	5	40972630	40972630	G	A	C7	c.2008G>A	NM_000587.2	NP_000578.2:p.(Ala670Thr)	NC_000005.9:g.40972630G>A	(Likely) benign	2 labs	e3ce0a3a4b
11:76910856 MYO7A C>A	11	76910856	76910856	C	A	MYO7A	c.4845C>A	NM_000260.4	NP_000251.3:p.(Pro1615=)	NC_000011.9:g.76910856C>A	(Likely) benign	2 labs	e3c806ab9f
3:58134052 FLNB G>A	3	58134052	58134052	G	A	FLNB	c.5941G>A	NM_001164317.1	NP_001157789.1:p.(Glu1981Lys)	NC_000003.11:g.58134052G>A	VUS	2 labs	e3d119a8a5
X:153459080 OPN1MW T>A	X	153459080	153459080	T	A	OPN1MW	c.926T>A	NM_000513.2	NP_000504.1:p.(Phe309Tyr)	NC_000023.10:g.153459080T>A	(Likely) benign	2 labs	e3d411ab51
9:34648114 GALT C>A	9	34648114	34648114	C	A	GALT	c.510C>A	NM_000155.3	NP_000146.2:p.(Ile170=)	NC_000009.11:g.34648114C>A	(Likely) benign	2 labs	e3dcb1e1b6
17:41243713 BRCA1 C>T	17	41243713	41243713	C	T	BRCA1	c.3835G>A	NM_007294.3	NP_009225.1:p.(Ala1279Thr)	NC_000017.10:g.41243713C>T	(Likely) benign	2 labs	e3e0b07dcb
8:113326209 CSMD3 T>C	8	113326209	113326209	T	C	CSMD3	c.7622A>G	NM_198123.2	NP_937756.1:p.(Asn2541Ser)	NC_000008.10:g.113326209T>C	(Likely) benign	2 labs	e3eb2b9c77
4:103806509 CISD2 G>A	4	103806509	103806509	G	A	CISD2	c.240G>A	NM_001008388.5	NP_001008389.1:p.(Pro80=)	NC_000004.11:g.103806509G>A	(Likely) benign	2 labs	e3f4c24b62
20:30409276 MYLK2 G>A	20	30409276	30409276	G	A	MYLK2	c.508G>A	NM_033118.3	NP_149109.1:p.(Glu170Lys)	NC_000020.10:g.30409276G>A	(Likely) benign	2 labs	e401a34b8f
2:179477872 TTN A>G	2	179477872	179477872	A	G	TTN	c.49648+16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179477872A>G	(Likely) benign	3 labs	e4069280b1
1:152285861 FLG G>A	1	152285861	152285861	G	A	FLG	c.1501C>T	NM_002016.2	NP_002007.1:p.(Arg501Ter)	NC_000001.10:g.152285861G>A	(Likely) pathogenic	5 labs	e408839d8a
9:399267 DOCK8 TC>T	9	399267	399274	TC	T	DOCK8	c.3234+15del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.399274del	(Likely) benign	2 labs	e405564c97
16:28497660 CLN3 C>T	16	28497660	28497660	C	T	CLN3	c.677+8G>A	NM_001042432.2	NP_001035897.1:p.?	NC_000016.9:g.28497660C>T	(Likely) benign	3 labs	e4052af800
2:179462422 TTN A>C	2	179462422	179462422	A	C	TTN	c.57387T>G	NM_001267550.2	NP_001254479.2:p.(Asn19129Lys)	NC_000002.11:g.179462422A>C	VUS	3 labs	e40d3bb415
1:197070597 ASPM TTC>T	1	197070597	197070600	TTC	T	ASPM	c.7782_7783del	NM_018136.5	NP_060606.3:p.(Lys2595SerfsTer6)	NC_000001.10:g.197070599_197070600del	(Likely) pathogenic	3 labs	e41428fc1c
X:50377505 SHROOM4 G>T	X	50377505	50377505	G	T	SHROOM4	c.1568C>A	NM_020717.3	NP_065768.2:p.(Ala523Asp)	NC_000023.10:g.50377505G>T	(Likely) benign	2 labs	e40d7c0100
12:7043744 ATN1 G>A	12	7043744	7043744	G	A	ATN1	c.279+3G>A	NM_001007026.2	NP_001007027.1:p.?	NC_000012.11:g.7043744G>A	(Likely) benign	2 labs	e41517a855
X:36322055 CFAP47 G>C	X	36322055	36322055	G	C	CFAP47	c.8062G>C	NM_001304548.2	NP_001291477.1:p.(Asp2688His)	NC_000023.10:g.36322055G>C	(Likely) benign	2 labs	e42353aa59
13:32893197 BRCA2 A>AT	13	32893197	32893207	A	AT	BRCA2	c.68-7dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893207dup	(Likely) benign	4 labs	e41a0a3bae
9:13188953 MPDZ A>T	9	13188953	13188953	A	T	MPDZ	c.2194T>A	NM_003829.4	NP_003820.2:p.(Ser732Thr)	NC_000009.11:g.13188953A>T	VUS	2 labs	e42939f87a
16:85952403 IRF8 T>G	16	85952403	85952403	T	G	IRF8	c.982T>G	NM_002163.2	NP_002154.1:p.(Phe328Val)	NC_000016.9:g.85952403T>G	(Likely) benign	2 labs	e42a40b32c
4:79373329 FRAS1 A>G	4	79373329	79373329	A	G	FRAS1	c.6584A>G	NM_025074.7	NP_079350.5:p.(Glu2195Gly)	NC_000004.11:g.79373329A>G	(Likely) benign	2 labs	e436475916
11:6647497 DCHS1 G>A	11	6647497	6647497	G	A	DCHS1	c.6479C>T	NM_003737.4	NP_003728.1:p.(Thr2160Ile)	NC_000011.9:g.6647497G>A	(Likely) benign	3 labs	e42998d792
11:108122617 ATM C>T	11	108122617	108122617	C	T	ATM	c.1661C>T	NM_001351834.1	NP_001338763.1:p.(Thr554Met)	NC_000011.9:g.108122617C>T	(Likely) benign	2 labs	e4319a7798
2:21229885 APOB G>A	2	21229885	21229885	G	A	APOB	c.9855C>T	NM_000384.3	NP_000375.3:p.(Ile3285=)	NC_000002.11:g.21229885G>A	(Likely) benign	2 labs	e42e38c9af
1:1469324 ATAD3A G>A	1	1469324	1469324	G	A	ATAD3A	c.1633G>A	NM_001170535.3	NP_001164006.1:p.(Glu545Lys)	NC_000001.10:g.1469324G>A	VUS	3 labs	e438b57e2d
22:41550996 EP300 A>T	22	41550996	41550996	A	T	EP300	c.3143-3A>T	NM_001429.3	NP_001420.2:p.?	NC_000022.10:g.41550996A>T	(Likely) benign	2 labs	e4390ed243
9:139333839 INPP5E G>C	9	139333839	139333839	G	C	INPP5E	c.33C>G	NM_019892.5	NP_063945.2:p.(Ser11=)	NC_000009.11:g.139333839G>C	(Likely) benign	2 labs	e43fdadf23
7:45103547 CCM2 TAC>T	7	45103547	45103549	TAC	T	CCM2	c.236_237del	NM_001363458.2	NP_001350387.1:p.(Tyr79SerfsTer6)	NC_000007.13:g.45103548_45103549del	(Likely) pathogenic	3 labs	e4371dbb79
21:45953767 TSPEAR C>T	21	45953767	45953767	C	T	TSPEAR	c.139G>A	NM_001272037.1	NP_001258966.1:p.(Asp47Asn)	NC_000021.8:g.45953767C>T	(Likely) benign	2 labs	e45036b232
8:55533686 RP1 G>A	8	55533686	55533686	G	A	RP1	c.160G>A	NM_006269.1	NP_006260.1:p.(Val54Met)	NC_000008.10:g.55533686G>A	VUS	2 labs	e4578d15ba
6:135754257 AHI1 C>T	6	135754257	135754257	C	T	AHI1	c.2174G>A	NM_001134831.2	NP_001128303.1:p.(Trp725Ter)	NC_000006.11:g.135754257C>T	(Likely) pathogenic	4 labs	e44d5ebc4d
5:45696072 HCN1 G>A	5	45696072	45696072	G	A	HCN1	c.124C>T	NM_021072.4	NP_066550.2:p.(Pro42Ser)	NC_000005.9:g.45696072G>A	(Likely) benign	4 labs	e4660464f1
14:23896042 MYH7 C>T	14	23896042	23896042	C	T	MYH7	c.1988G>A	NM_000257.2	NP_000248.2:p.(Arg663His)	NC_000014.8:g.23896042C>T	(Likely) pathogenic	2 labs	e46475e9ee
2:234669155 UGT1A1 C>A	2	234669155	234669155	C	A	UGT1A1	c.222C>A	NM_000463.3	NP_000454.1:p.(Tyr74Ter)	NC_000002.11:g.234669155C>A	(Likely) pathogenic	3 labs	e46eef4835
22:18653662 USP18 G>A	22	18653662	18653662	G	A	USP18	c.866G>A	NM_017414.3	NP_059110.2:p.(Arg289Gln)	NC_000022.10:g.18653662G>A	(Likely) benign	2 labs	e47203ecf2
13:32914572 BRCA2 G>A	13	32914572	32914572	G	A	BRCA2	c.6080G>A	NM_000059.3	NP_000050.2:p.(Arg2027Lys)	NC_000013.10:g.32914572G>A	(Likely) benign	2 labs	e477f54026
21:47776985 PCNT A>G	21	47776985	47776985	A	G	PCNT	c.2033A>G	NM_006031.5	NP_006022.3:p.(Lys678Arg)	NC_000021.8:g.47776985A>G	(Likely) benign	2 labs	e47be42767
5:36679942 SLC1A3 C>T	5	36679942	36679942	C	T	SLC1A3	c.1074C>T	NM_004172.4	NP_004163.3:p.(Thr358=)	NC_000005.9:g.36679942C>T	(Likely) benign	2 labs	e47d0c0751
13:110818603 COL4A1 C>T	13	110818603	110818603	C	T	COL4A1	c.3997G>A	NM_001845.5	NP_001836.3:p.(Asp1333Asn)	NC_000013.10:g.110818603C>T	VUS	3 labs	e47e7bd79c
10:69905275 MYPN G>A	10	69905275	69905275	G	A	MYPN	c.1122G>A	NM_032578.4	NP_115967.2:p.(Glu374=)	NC_000010.10:g.69905275G>A	(Likely) benign	2 labs	e479df0f13
14:102493523 DYNC1H1 A>G	14	102493523	102493523	A	G	DYNC1H1	c.8784A>G	NM_001376.4	NP_001367.2:p.(Gln2928=)	NC_000014.8:g.102493523A>G	(Likely) benign	2 labs	e488ab9aa9
2:179400177 TTN G>C	2	179400177	179400177	G	C	TTN	c.101165C>G	NM_001267550.2	NP_001254479.2:p.(Thr33722Ser)	NC_000002.11:g.179400177G>C	VUS	2 labs	e488b67db0
4:15513041 CC2D2A G>T	4	15513041	15513041	G	T	CC2D2A	c.712G>T	NM_001080522.2	NP_001073991.2:p.(Glu238Ter)	NC_000004.11:g.15513041G>T	(Likely) pathogenic	3 labs	e491289c26
4:6303955 WFS1 G>A	4	6303955	6303955	G	A	WFS1	c.2433G>A	NM_006005.3	NP_005996.2:p.(Lys811=)	NC_000004.11:g.6303955G>A	(Likely) benign	3 labs	e4a1c755ae
21:46929467 COL18A1 G>A	21	46929467	46929467	G	A	COL18A1	c.3978G>A	NM_030582.4	NP_085059.2:p.(Ala1326=)	NC_000021.8:g.46929467G>A	(Likely) benign	3 labs	e4a2e91121
9:133574790 EXOSC2 C>T	9	133574790	133574790	C	T	EXOSC2	c.426+9C>T	NM_014285.7	NP_055100.2:p.?	NC_000009.11:g.133574790C>T	(Likely) benign	2 labs	e4a50c64c1
15:63907959 HERC1 C>T	15	63907959	63907959	C	T	HERC1	c.14094+8G>A	NM_003922.3	NP_003913.3:p.?	NC_000015.9:g.63907959C>T	(Likely) benign	2 labs	e4b0e3b39a
1:41296828 KCNQ4 T>G	1	41296828	41296828	T	G	KCNQ4	c.1365T>G	NM_004700.3	NP_004691.2:p.(His455Gln)	NC_000001.10:g.41296828T>G	(Likely) benign	2 labs	e4c25dc835
15:99452002 IGF1R A>G	15	99452002	99452002	A	G	IGF1R	c.1336A>G	NM_000875.5	NP_000866.1:p.(Met446Val)	NC_000015.9:g.99452002A>G	(Likely) benign	3 labs	e4cec8d5d9
10:26315400 MYO3A C>T	10	26315400	26315400	C	T	MYO3A	c.892C>T	NM_017433.5	NP_059129.3:p.(Gln298Ter)	NC_000010.10:g.26315400C>T	(Likely) pathogenic	2 labs	e4d10968a0
3:58098044 FLNB A>G	3	58098044	58098044	A	G	FLNB	c.2744A>G	NM_001164317.1	NP_001157789.1:p.(Gln915Arg)	NC_000003.11:g.58098044A>G	VUS	2 labs	e4d3834b67
16:79245652 WWOX G>A	16	79245652	79245652	G	A	WWOX	c.1204G>A	NM_016373.3	NP_057457.1:p.(Glu402Lys)	NC_000016.9:g.79245652G>A	VUS	2 labs	e4e6c56149
17:14110120 COX10 C>T	17	14110120	14110120	C	T	COX10	c.929-7C>T	NM_001303.4	NP_001294.2:p.?	NC_000017.10:g.14110120C>T	(Likely) benign	2 labs	e4f9e7443b
1:17322984 ATP13A2 G>A	1	17322984	17322984	G	A	ATP13A2	c.1203C>T	NM_022089.4	NP_071372.1:p.(Cys401=)	NC_000001.10:g.17322984G>A	(Likely) benign	2 labs	e50345a07e
14:88448548 GALC C>T	14	88448548	88448548	C	T	GALC	c.621+1G>A	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88448548C>T	(Likely) pathogenic	2 labs	e50e2e4549
14:105416698 AHNAK2 A>G	14	105416698	105416698	A	G	AHNAK2	c.5090T>C	NM_138420.4	NP_612429.2:p.(Met1697Thr)	NC_000014.8:g.105416698A>G	(Likely) benign	2 labs	e516fc0b8c
12:49579696 TUBA1A C>G	12	49579696	49579696	C	G	TUBA1A	c.453G>C	NM_006009.3	NP_006000.2:p.(Ser151=)	NC_000012.11:g.49579696C>G	(Likely) benign	2 labs	e5196575fb
19:45992702 RTN2 C>T	19	45992702	45992702	C	T	RTN2	c.1143G>A	NM_005619.4	NP_005610.1:p.(Ala381=)	NC_000019.9:g.45992702C>T	(Likely) benign	2 labs	e51a23f21d
6:33152074 COL11A2 T>TG	6	33152074	33152081	T	TG	COL11A2	c.966dup	NM_080680.2	NP_542411.2:p.(Thr323HisfsTer19)	NC_000006.11:g.33152081dup	(Likely) pathogenic	2 labs	e51c0ac6a7
13:32937325 BRCA2 G>A	13	32937325	32937325	G	A	BRCA2	c.7986G>A	NM_000059.3	NP_000050.2:p.(Thr2662=)	NC_000013.10:g.32937325G>A	(Likely) benign	2 labs	e51c0f36ec
8:100205241 VPS13B C>T	8	100205241	100205241	C	T	VPS13B	c.2471C>T	NM_017890.4	NP_060360.3:p.(Ser824Phe)	NC_000008.10:g.100205241C>T	VUS	2 labs	e5245c1532
19:3981320 EEF2 C>T	19	3981320	3981320	C	T	EEF2	c.1011+17G>A	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3981320C>T	(Likely) benign	2 labs	e5264e156d
17:8134785 CTC1 T>C	17	8134785	8134785	T	C	CTC1	c.2478A>G	NM_025099.6	NP_079375.3:p.(Thr826=)	NC_000017.10:g.8134785T>C	(Likely) benign	2 labs	e52d947cca
3:123457838 MYLK GT>G	3	123457838	123457839	GT	G	MYLK	c.493del	NM_053025.4	NP_444253.3:p.(Thr165ProfsTer72)	NC_000003.11:g.123457839del	VUS	3 labs	e531c916aa
7:99704465 AP4M1 G>A	7	99704465	99704465	G	A	AP4M1	c.1322G>A	NM_004722.3	NP_004713.2:p.(Arg441Gln)	NC_000007.13:g.99704465G>A	VUS	2 labs	e53533a5f5
3:121514332 IQCB1 C>T	3	121514332	121514332	C	T	IQCB1	c.958G>A	NM_001023570.3	NP_001018864.2:p.(Ala320Thr)	NC_000003.11:g.121514332C>T	VUS	2 labs	e5468a27dc
15:23891309 MAGEL2 C>T	15	23891309	23891309	C	T	MAGEL2	c.1581G>A	NM_019066.5	NP_061939.3:p.(Pro527=)	NC_000015.9:g.23891309C>T	(Likely) benign	2 labs	e540a5ce40
17:78079643 GAA C>T	17	78079643	78079643	C	T	GAA	c.642C>T	NM_000152.5	NP_000143.2:p.(Ser214=)	NC_000017.10:g.78079643C>T	(Likely) benign	4 labs	e54ebddf81
5:42695016 GHR T>C	5	42695016	42695016	T	C	GHR	c.267-3T>C	NM_001242400.2	NP_001229329.1:p.?	NC_000005.9:g.42695016T>C	(Likely) benign	2 labs	e5497b8ad1
2:179404151 TTN G>A	2	179404151	179404151	G	A	TTN	c.98641C>T	NM_001267550.2	NP_001254479.2:p.(Pro32881Ser)	NC_000002.11:g.179404151G>A	(Likely) benign	3 labs	e547ef65f7
9:137704458 COL5A1 C>T	9	137704458	137704458	C	T	COL5A1	c.3752C>T	NM_000093.5	NP_000084.3:p.(Pro1251Leu)	NC_000009.11:g.137704458C>T	VUS	2 labs	e549fd0f0b
10:16930427 CUBN A>G	10	16930427	16930427	A	G	CUBN	c.8894T>C	NM_001081.3	NP_001072.2:p.(Phe2965Ser)	NC_000010.10:g.16930427A>G	VUS	2 labs	e5507f50a4
1:120459122 NOTCH2 C>T	1	120459122	120459122	C	T	NOTCH2	c.6223G>A	NM_024408.3	NP_077719.2:p.(Val2075Met)	NC_000001.10:g.120459122C>T	(Likely) benign	3 labs	e5593e0246
15:91346951 BLM G>T	15	91346951	91346951	G	T	BLM	c.2433+1G>T	NM_001287248.1	NP_001274177.1:p.?	NC_000015.9:g.91346951G>T	(Likely) pathogenic	2 labs	e567eea6e7
X:148577975 IDS G>C	X	148577975	148577975	G	C	IDS	c.781C>G	NM_000202.7	NP_000193.1:p.(Pro261Ala)	NC_000023.10:g.148577975G>C	(Likely) benign	2 labs	e56be94fdb
X:100662884 GLA A>G	X	100662884	100662884	A	G	GLA	c.8T>C	NM_000169.2	NP_000160.1:p.(Leu3Pro)	NC_000023.10:g.100662884A>G	(Likely) benign	2 labs	e56d1ef702
1:65867519 DNAJC6 G>A	1	65867519	65867519	G	A	DNAJC6	c.2183G>A	NM_001256864.2	NP_001243793.1:p.(Ser728Asn)	NC_000001.10:g.65867519G>A	(Likely) benign	2 labs	e56ae5eebd
3:38618252 SCN5A G>A	3	38618252	38618252	G	A	SCN5A	c.3411C>T	NM_198056.3	NP_932173.1:p.(Ser1137=)	NC_000003.11:g.38618252G>A	(Likely) benign	2 labs	e572247025
20:60927368 LAMA5 C>T	20	60927368	60927368	C	T	LAMA5	c.617G>A	NM_005560.4	NP_005551.3:p.(Arg206His)	NC_000020.10:g.60927368C>T	VUS	2 labs	e57725e80c
11:57578943 CTNND1 C>T	11	57578943	57578943	C	T	CTNND1	c.2623C>T	NM_001085458.2	NP_001078927.1:p.(Arg875Trp)	NC_000011.9:g.57578943C>T	(Likely) benign	2 labs	e5815ebdf3
2:179413670 TTN G>A	2	179413670	179413670	G	A	TTN	c.92683C>T	NM_001267550.1	NP_001254479.1:p.(Arg30895Ter)	NC_000002.11:g.179413670G>A	(Likely) pathogenic	2 labs	e58207b518
16:29825019 PRRT2 C>G	16	29825019	29825019	C	G	PRRT2	c.644C>G	NM_001256443.1	NP_001243372.1:p.(Pro215Arg)	NC_000016.9:g.29825019C>G	(Likely) benign	3 labs	e582746d89
20:62326110 RTEL1 A>C	20	62326110	62326110	A	C	RTEL1	c.3126A>C	NM_001283009.1	NP_001269938.1:p.(Gln1042His)	NC_000020.10:g.62326110A>C	(Likely) benign	3 labs	e585dd1eff
11:61730183 BEST1 C>T	11	61730183	61730183	C	T	BEST1	c.1557C>T	NM_004183.3	NP_004174.1:p.(Ser519=)	NC_000011.9:g.61730183C>T	(Likely) benign	2 labs	e58694802a
7:139655341 TBXAS1 C>G	7	139655341	139655341	C	G	TBXAS1	c.626C>G	NM_001130966.2	NP_001124438.1:p.(Pro209Arg)	NC_000007.13:g.139655341C>G	VUS	3 labs	e595331e2f
14:102502989 DYNC1H1 G>A	14	102502989	102502989	G	A	DYNC1H1	c.10908+10G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102502989G>A	(Likely) benign	2 labs	e592b3a9f4
3:11067266 SLC6A1 C>T	3	11067266	11067266	C	T	SLC6A1	c.846C>T	NM_003042.3	NP_003033.3:p.(Ser282=)	NC_000003.11:g.11067266C>T	(Likely) benign	2 labs	e59991cf1a
10:21101734 NEBL T>C	10	21101734	21101734	T	C	NEBL	c.2482A>G	NM_006393.2	NP_006384.1:p.(Ile828Val)	NC_000010.10:g.21101734T>C	(Likely) benign	2 labs	e59d478e33
14:94849345 SERPINA1 GAGA>G	14	94849345	94849354	GAGA	G	SERPINA1	c.227_229del	NM_000295.5	NP_000286.3:p.(Phe76del)	NC_000014.8:g.94849352_94849354del	(Likely) pathogenic	2 labs	e59d3d2b40
6:65301211 EYS T>C	6	65301211	65301211	T	C	EYS	c.4549A>G	NM_001142800.1	NP_001136272.1:p.(Ser1517Gly)	NC_000006.11:g.65301211T>C	(Likely) benign	2 labs	e5a0be5ec7
18:43535069 EPG5 G>A	18	43535069	43535069	G	A	EPG5	c.299C>T	NM_020964.3	NP_066015.2:p.(Thr100Ile)	NC_000018.9:g.43535069G>A	(Likely) benign	3 labs	e5a5374758
6:152793471 SYNE1 T>C	6	152793471	152793471	T	C	SYNE1	c.1428A>G	NM_182961.3	NP_892006.3:p.(Pro476=)	NC_000006.11:g.152793471T>C	(Likely) benign	2 labs	e5b1332187
10:17089450 CUBN C>A	10	17089450	17089450	C	A	CUBN	c.3292G>T	NM_001081.3	NP_001072.2:p.(Ala1098Ser)	NC_000010.10:g.17089450C>A	(Likely) benign	2 labs	e5ba4e2b52
4:55602912 KIT G>A	4	55602912	55602912	G	A	KIT	c.2622G>A	NM_000222.3	NP_000213.1:p.(Pro874=)	NC_000004.11:g.55602912G>A	(Likely) benign	5 labs	e5bb007b75
X:55044094 ALAS2 G>A	X	55044094	55044094	G	A	ALAS2	c.828C>T	NM_000032.5	NP_000023.2:p.(Cys276=)	NC_000023.10:g.55044094G>A	(Likely) benign	2 labs	e5bb0e11d1
1:65312368 JAK1 C>T	1	65312368	65312368	C	T	JAK1	c.1951G>A	NM_002227.4	NP_002218.2:p.(Val651Met)	NC_000001.10:g.65312368C>T	(Likely) benign	2 labs	e5c1b722a8
11:44289167 ALX4 C>G	11	44289167	44289167	C	G	ALX4	c.783G>C	NM_021926.4	NP_068745.2:p.(Trp261Cys)	NC_000011.9:g.44289167C>G	VUS	2 labs	e5c3f0343b
X:38144934 RPGR C>CT	X	38144934	38144941	C	CT	RPGR	c.3317dup	NM_001034853.1	NP_001030025.1:p.(Ser1107ValfsTer4)	NC_000023.10:g.38144941dup	(Likely) pathogenic	2 labs	e5c3fdbd2c
19:1222012 STK11 G>C	19	1222012	1222012	G	C	STK11	c.920+7G>C	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222012G>C	(Likely) benign	4 labs	e5cec42d00
19:42879956 MEGF8 A>G	19	42879956	42879956	A	G	MEGF8	c.7567A>G	NM_001271938.2	NP_001258867.1:p.(Thr2523Ala)	NC_000019.9:g.42879956A>G	(Likely) benign	2 labs	e5cd012378
11:108216476 ATM C>CA	11	108216476	108216483	C	CA	ATM	c.8432dup	NM_000051.3	NP_000042.3:p.(Ser2812ValfsTer3)	NC_000011.9:g.108216483dup	(Likely) pathogenic	2 labs	e5d7fcafc9
5:79950727 DHFR GCAGCGCCCC>G	5	79950727	79950749	GCAGCGCCCC	G	DHFR	c.-428_-420del	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950741_79950749del	(Likely) benign	2 labs	e5e9de9e9a
16:14649574 PARN A>C	16	14649574	14649574	A	C	PARN	c.1263-8T>G	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14649574A>C	(Likely) benign	3 labs	e5ede95f44
X:73960344 NEXMIF C>T	X	73960344	73960344	C	T	NEXMIF	c.4048G>A	NM_001008537.2	NP_001008537.1:p.(Asp1350Asn)	NC_000023.10:g.73960344C>T	(Likely) benign	2 labs	e5ee58056a
14:23874851 MYH6 C>T	14	23874851	23874851	C	T	MYH6	c.330G>A	NM_002471.4	NP_002462.2:p.(Ala110=)	NC_000014.8:g.23874851C>T	(Likely) benign	6 labs	e5f4b235af
5:180048641 FLT4 G>A	5	180048641	180048641	G	A	FLT4	c.1921C>T	NM_182925.5	NP_891555.2:p.(Pro641Ser)	NC_000005.9:g.180048641G>A	(Likely) benign	5 labs	e5fcadd0c3
7:128490108 FLNC G>A	7	128490108	128490108	G	A	FLNC	c.5278G>A	NM_001458.5	NP_001449.3:p.(Gly1760Ser)	NC_000007.13:g.128490108G>A	VUS	3 labs	e61187a17f
15:49085583 CEP152 A>G	15	49085583	49085583	A	G	CEP152	c.767T>C	NM_001194998.1	NP_001181927.1:p.(Ile256Thr)	NC_000015.9:g.49085583A>G	(Likely) benign	2 labs	e6144f946e
21:34012088 SYNJ1 G>A	21	34012088	34012088	G	A	SYNJ1	c.3707C>T	NM_003895.3	NP_003886.3:p.(Thr1236Met)	NC_000021.8:g.34012088G>A	(Likely) benign	2 labs	e614d81b15
6:162622197 PRKN C>T	6	162622197	162622197	C	T	PRKN	c.500G>A	NM_013987.3	NP_054642.2:p.(Ser167Asn)	NC_000006.11:g.162622197C>T	(Likely) benign	2 labs	e60ecbf26e
17:17124753 FLCN G>A	17	17124753	17124753	G	A	FLCN	c.969C>T	NM_144606.7	NP_653207.1:p.(Asn323=)	NC_000017.10:g.17124753G>A	(Likely) benign	4 labs	e6231a80b3
17:6367111 PITPNM3 G>A	17	6367111	6367111	G	A	PITPNM3	c.2247C>T	NM_031220.4	NP_112497.2:p.(Ala749=)	NC_000017.10:g.6367111G>A	(Likely) benign	2 labs	e624a812ec
8:145738644 RECQL4 C>T	8	145738644	145738644	C	T	RECQL4	c.2420G>A	NM_004260.3	NP_004251.3:p.(Arg807His)	NC_000008.10:g.145738644C>T	VUS	2 labs	e633a06c11
1:220101514 SLC30A10 G>A	1	220101514	220101514	G	A	SLC30A10	c.269C>T	NM_018713.3	NP_061183.2:p.(Thr90Ile)	NC_000001.10:g.220101514G>A	(Likely) benign	2 labs	e633db5137
1:220368527 RAB3GAP2 T>G	1	220368527	220368527	T	G	RAB3GAP2	c.1041-18A>C	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220368527T>G	(Likely) benign	2 labs	e6384454a5
1:33478945 AK2 C>T	1	33478945	33478945	C	T	AK2	c.413G>A	NM_001319139.1	NP_001306068.1:p.(Arg138His)	NC_000001.10:g.33478945C>T	VUS	2 labs	e63ee9cf95
16:81916895 PLCG2 C>T	16	81916895	81916895	C	T	PLCG2	c.714C>T	NM_002661.3	NP_002652.2:p.(Ala238=)	NC_000016.9:g.81916895C>T	(Likely) benign	2 labs	e641660f0a
17:29496913 NF1 C>T	17	29496913	29496913	C	T	NF1	c.484C>T	NM_000267.3	NP_000258.1:p.(Gln162Ter)	NC_000017.10:g.29496913C>T	(Likely) pathogenic	2 labs	e64172e2ee
1:21889635 ALPL T>C	1	21889635	21889635	T	C	ALPL	c.330T>C	NM_000478.6	NP_000469.3:p.(Ser110=)	NC_000001.10:g.21889635T>C	(Likely) benign	3 labs	e652e282b4
7:92130962 PEX1 G>A	7	92130962	92130962	G	A	PEX1	c.1818C>T	NM_001282678.2	NP_001269607.1:p.(Phe606=)	NC_000007.13:g.92130962G>A	(Likely) benign	2 labs	e6514f3224
16:2158376 PKD1 T>G	16	2158376	2158376	T	G	PKD1	c.6792A>C	NM_001009944.2	NP_001009944.2:p.(Ser2264=)	NC_000016.9:g.2158376T>G	(Likely) benign	2 labs	e65943b9f4
9:40706192 SPATA31A3 A>G	9	40706192	40706192	A	G	SPATA31A3	c.3849A>G	NM_001083124.1	NP_001076593.1:p.(Arg1283=)	NC_000009.11:g.40706192A>G	(Likely) benign	2 labs	e663a4a82a
19:8654445 ADAMTS10 G>A	19	8654445	8654445	G	A	ADAMTS10	c.1925C>T	NM_030957.3	NP_112219.3:p.(Thr642Met)	NC_000019.9:g.8654445G>A	VUS	2 labs	e66f1a06a6
2:99006184 CNGA3 G>A	2	99006184	99006184	G	A	CNGA3	c.513G>A	NM_001298.2	NP_001289.1:p.(Trp171Ter)	NC_000002.11:g.99006184G>A	(Likely) pathogenic	2 labs	e66fc1b19b
11:119215476 C1QTNF5 G>A	11	119215476	119215476	G	A	C1QTNF5	c.-1864-9C>T	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119215476G>A	(Likely) benign	2 labs	e676b48ee1
5:155771587 SGCD G>A	5	155771587	155771587	G	A	SGCD	c.92G>A	NM_000337.6	NP_000328.2:p.(Arg31Gln)	NC_000005.9:g.155771587G>A	VUS	3 labs	e68bbdf5eb
1:145460264 POLR3GL C>T	1	145460264	145460264	C	T	POLR3GL	c.-41-1G>A	NM_032305.3	NP_115681.1:p.?	NC_000001.10:g.145460264C>T	(Likely) pathogenic	3 labs	e68b584a48
6:135784390 AHI1 T>G	6	135784390	135784390	T	G	AHI1	c.804A>C	NM_001134831.1	NP_001128303.1:p.(Ser268=)	NC_000006.11:g.135784390T>G	(Likely) benign	2 labs	e68ec26c4b
6:66044927 EYS T>C	6	66044927	66044927	T	C	EYS	c.1712A>G	NM_001142800.2	NP_001136272.1:p.(Gln571Arg)	NC_000006.11:g.66044927T>C	(Likely) benign	3 labs	e6996dd15d
6:129618850 LAMA2 A>G	6	129618850	129618850	A	G	LAMA2	c.2877A>G	NM_000426.3	NP_000417.2:p.(Gln959=)	NC_000006.11:g.129618850A>G	(Likely) benign	2 labs	e6ad928687
4:57796119 REST C>T	4	57796119	57796119	C	T	REST	c.1095C>T	NM_005612.4	NP_005603.3:p.(His365=)	NC_000004.11:g.57796119C>T	(Likely) benign	2 labs	e6af2ab2ea
4:79461934 FRAS1 C>T	4	79461934	79461934	C	T	FRAS1	c.11695C>T	NM_025074.7	NP_079350.5:p.(Leu3899=)	NC_000004.11:g.79461934C>T	(Likely) benign	2 labs	e6ba252a39
17:42991463 GFAP T>TG	17	42991463	42991469	T	TG	GFAP	c.462-8dup	NM_002055.4	NP_002046.1:p.?	NC_000017.10:g.42991469dup	(Likely) benign	2 labs	e6bf0ea220
9:133738156 ABL1 G>A	9	133738156	133738156	G	A	ABL1	c.613G>A	NM_007313.2	NP_009297.2:p.(Val205Ile)	NC_000009.11:g.133738156G>A	VUS	2 labs	e6bf419e32
12:49420745 KMT2D G>A	12	49420745	49420745	G	A	KMT2D	c.15004C>T	NM_003482.3	NP_003473.3:p.(Arg5002Trp)	NC_000012.11:g.49420745G>A	(Likely) benign	2 labs	e6c07622f5
18:57122180 CCBE1 T>C	18	57122180	57122180	T	C	CCBE1	c.557A>G	NM_133459.4	NP_597716.1:p.(His186Arg)	NC_000018.9:g.57122180T>C	(Likely) benign	2 labs	e6cfbb158a
10:73453990 CDH23 C>T	10	73453990	73453990	C	T	CDH23	c.2263C>T	NM_022124.6	NP_071407.4:p.(His755Tyr)	NC_000010.10:g.73453990C>T	(Likely) benign	4 labs	e6c86879b0
6:33131602 COL11A2 G>C	6	33131602	33131602	G	C	COL11A2	c.5071-7C>G	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33131602G>C	(Likely) benign	3 labs	e6d62b9fc9
21:46924322 COL18A1 G>A	21	46924322	46924322	G	A	COL18A1	c.2728-8G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46924322G>A	(Likely) benign	2 labs	e6e595679e
X:105449452 PWWP3B C>A	X	105449452	105449452	C	A	PWWP3B	c.27C>A	NM_152423.4	NP_689636.3:p.(Asn9Lys)	NC_000023.10:g.105449452C>A	VUS	2 labs	e6e5b9c893
11:17793324 KCNC1 G>T	11	17793324	17793324	G	T	KCNC1	c.683G>T	NM_004976.4	NP_004967.1:p.(Arg228Leu)	NC_000011.9:g.17793324G>T	(Likely) benign	3 labs	e6e5c0b8ba
19:55671374 DNAAF3 C>T	19	55671374	55671374	C	T	DNAAF3	c.894G>A	NM_001256716.2	NP_001243645.1:p.(Pro298=)	NC_000019.9:g.55671374C>T	(Likely) benign	2 labs	e6ec30757b
11:67815400 TCIRG1 C>T	11	67815400	67815400	C	T	TCIRG1				NC_000011.9:g.67815400C>T	(Likely) benign	2 labs	e6e9d4396c
17:41244000 BRCA1 T>C	17	41244000	41244000	T	C	BRCA1	c.3548A>G	NM_007294.4	NP_009225.1:p.(Lys1183Arg)	NC_000017.10:g.41244000T>C	(Likely) benign	6 labs	e6f3a87fbf
15:63978588 HERC1 T>C	15	63978588	63978588	T	C	HERC1	c.6195A>G	NM_003922.3	NP_003913.3:p.(Thr2065=)	NC_000015.9:g.63978588T>C	(Likely) benign	2 labs	e6f8be467f
5:74807615 CERT1 A>C	5	74807615	74807615	A	C	CERT1	c.55T>G	NM_001130105.1	NP_001123577.1:p.(Phe19Val)	NC_000005.9:g.74807615A>C	(Likely) benign	2 labs	e6f981f5ab
11:61730295 BEST1 G>A	11	61730295	61730295	G	A	BEST1	c.1489G>A	NM_001139443.2	NP_001132915.1:p.(Glu497Lys)	NC_000011.9:g.61730295G>A	(Likely) benign	3 labs	e6fa18aa92
17:29684347 NF1 G>C	17	29684347	29684347	G	C	NF1	c.7867G>C	NM_000267.3	NP_000258.1:p.(Ala2623Pro)	NC_000017.10:g.29684347G>C	VUS	2 labs	e7030c14a1
14:23898166 MYH7 C>T	14	23898166	23898166	C	T	MYH7	c.1405G>A	NM_000257.2	NP_000248.2:p.(Asp469Asn)	NC_000014.8:g.23898166C>T	(Likely) pathogenic	2 labs	e704460b92
X:110988098 ALG13 T>C	X	110988098	110988098	T	C	ALG13	c.2664T>C	NM_001257231.1	NP_001244160.1:p.(Tyr888=)	NC_000023.10:g.110988098T>C	(Likely) benign	2 labs	e70aa94bb8
2:149227542 MBD5 G>A	2	149227542	149227542	G	A	MBD5	c.2030G>A	NM_018328.4	NP_060798.2:p.(Ser677Asn)	NC_000002.11:g.149227542G>A	(Likely) benign	2 labs	e70d1992cd
19:11324000 DOCK6 G>A	19	11324000	11324000	G	A	DOCK6	c.4343C>T	NM_020812.4	NP_065863.2:p.(Pro1448Leu)	NC_000019.9:g.11324000G>A	VUS	3 labs	e71145add2
3:10188215 VHL A>G	3	10188215	10188215	A	G	VHL	c.358A>G	NM_000551.3	NP_000542.1:p.(Arg120Gly)	NC_000003.11:g.10188215A>G	(Likely) pathogenic	2 labs	e71147d119
16:28488924 CLN3 C>T	16	28488924	28488924	C	T	CLN3	c.1230G>A	NM_001042432.2	NP_001035897.1:p.(Ala410=)	NC_000016.9:g.28488924C>T	(Likely) benign	2 labs	e70fa09d36
12:8998038 A2ML1 T>C	12	8998038	8998038	T	C	A2ML1	c.1477T>C	NM_144670.6	NP_653271.3:p.(Leu493=)	NC_000012.11:g.8998038T>C	(Likely) benign	2 labs	e71c67ef56
4:79400644 FRAS1 G>A	4	79400644	79400644	G	A	FRAS1	c.8215G>A	NM_025074.7	NP_079350.5:p.(Ala2739Thr)	NC_000004.11:g.79400644G>A	(Likely) benign	2 labs	e71ddf0938
X:63576181 MTMR8 G>A	X	63576181	63576181	G	A	MTMR8	c.185C>T	NM_017677.3	NP_060147.2:p.(Pro62Leu)	NC_000023.10:g.63576181G>A	(Likely) benign	2 labs	e72038ae08
11:58919922 FAM111A G>GGCAGATACTT	11	58919922	58919932	G	GGCAGATACTT	FAM111A	c.782_791dup	NM_001142520.2	NP_001135992.1:p.(Phe264LeufsTer7)	NC_000011.9:g.58919923_58919932dup	(Likely) benign	3 labs	e728431c21
X:153296806 MECP2 G>A	X	153296806	153296806	G	A	MECP2	c.473C>T	NM_004992.4	NP_004983.1:p.(Thr158Met)	NC_000023.10:g.153296806G>A	(Likely) pathogenic	4 labs	e7246f5830
4:123664427 BBS12 G>C	4	123664427	123664427	G	C	BBS12	c.1380G>C	NM_001178007.2	NP_001171478.1:p.(Val460=)	NC_000004.11:g.123664427G>C	(Likely) benign	3 labs	e74078448a
14:97327024 VRK1 C>T	14	97327024	97327024	C	T	VRK1	c.1020C>T	NM_003384.2	NP_003375.1:p.(Asp340=)	NC_000014.8:g.97327024C>T	(Likely) benign	2 labs	e743cf053c
X:48973434 GPKOW T>C	X	48973434	48973434	T	C	GPKOW	c.863A>G	NM_015698.5	NP_056513.2:p.(Tyr288Cys)	NC_000023.10:g.48973434T>C	(Likely) benign	2 labs	e747ede2ac
X:24382373 SUPT20HL1 TTGCTGC>T	X	24382373	24382428	TTGCTGC	T	SUPT20HL1	c.1546_1551del	NM_001136234.3	NP_001129706.3:p.(Ala516_Ala517del)	NC_000023.10:g.24382423_24382428del	(Likely) benign	2 labs	e74a89b0d2
19:48664769 LIG1 A>G	19	48664769	48664769	A	G	LIG1	c.108-5T>C	NM_001320970.1	NP_001307899.1:p.?	NC_000019.9:g.48664769A>G	(Likely) benign	2 labs	e74b84d7bb
14:65234426 SPTB C>T	14	65234426	65234426	C	T	SPTB	c.6174G>A	NM_001024858.3	NP_001020029.1:p.(Thr2058=)	NC_000014.8:g.65234426C>T	(Likely) benign	2 labs	e75247f437
19:54313957 NLRP12 G>C	19	54313957	54313957	G	C	NLRP12	c.956C>G	NM_001277126.1	NP_001264055.1:p.(Pro319Arg)	NC_000019.9:g.54313957G>C	(Likely) benign	2 labs	e75f65e69d
X:129147049 BCORL1 T>C	X	129147049	129147049	T	C	BCORL1	c.301T>C	NM_021946.5	NP_068765.3:p.(Tyr101His)	NC_000023.10:g.129147049T>C	(Likely) benign	2 labs	e7641c288f
20:10625625 JAG1 G>A	20	10625625	10625625	G	A	JAG1	c.2230C>T	NM_000214.3	NP_000205.1:p.(Arg744Ter)	NC_000020.10:g.10625625G>A	(Likely) pathogenic	2 labs	e7774fd93d
12:33031101 PKP2 G>A	12	33031101	33031101	G	A	PKP2	c.713C>T	NM_004572.4	NP_004563.2:p.(Pro238Leu)	NC_000012.11:g.33031101G>A	VUS	3 labs	e776e7653f
4:123166185 BLTP1 G>A	4	123166185	123166185	G	A	BLTP1	c.4927G>A	NM_015312.4	NP_056127.2:p.(Ala1643Thr)	NC_000004.11:g.123166185G>A	VUS	2 labs	e779f86cdd
13:32910359 BRCA2 T>C	13	32910359	32910359	T	C	BRCA2	c.1910-43T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32910359T>C	(Likely) benign	2 labs	e78944df2b
18:19426998 MIB1 C>T	18	19426998	19426998	C	T	MIB1	c.2305C>T	NM_020774.4	NP_065825.1:p.(Arg769Ter)	NC_000018.9:g.19426998C>T	(Likely) pathogenic	2 labs	e78d14307c
19:40762915 AKT2 G>A	19	40762915	40762915	G	A	AKT2	c.93C>T	NM_001626.6	NP_001617.1:p.(Ser31=)	NC_000019.9:g.40762915G>A	(Likely) benign	3 labs	e79a988401
16:81922782 PLCG2 T>C	16	81922782	81922782	T	C	PLCG2	c.771T>C	NM_002661.3	NP_002652.2:p.(His257=)	NC_000016.9:g.81922782T>C	(Likely) benign	2 labs	e79b5eed95
9:135946986 CEL G>C	9	135946986	135946986	G	C	CEL	c.2106G>C	NM_001807.4	NP_001798.2:p.(Gly702=)	NC_000009.11:g.135946986G>C	(Likely) benign	2 labs	e7a05dfe1c
5:90101200 ADGRV1 G>A	5	90101200	90101200	G	A	ADGRV1	c.14761G>A	NM_032119.4	NP_115495.3:p.(Ala4921Thr)	NC_000005.9:g.90101200G>A	(Likely) benign	2 labs	e7b0f80416
7:33545253 BBS9 A>G	7	33545253	33545253	A	G	BBS9	c.2294A>G	NM_198428.3	NP_940820.1:p.(Glu765Gly)	NC_000007.13:g.33545253A>G	VUS	2 labs	e7b248bef6
4:103553383 MANBA A>T	4	103553383	103553383	A	T	MANBA	c.2471T>A	NM_005908.3	NP_005899.3:p.(Val824Asp)	NC_000004.11:g.103553383A>T	VUS	2 labs	e7b3732ee3
7:151859939 KMT2C T>C	7	151859939	151859939	T	C	KMT2C	c.10723A>G	NM_170606.2	NP_733751.2:p.(Thr3575Ala)	NC_000007.13:g.151859939T>C	(Likely) benign	2 labs	e7b8df5ac3
20:746024 SLC52A3 C>T	20	746024	746024	C	T	SLC52A3	c.395G>A	NM_033409.3	NP_212134.3:p.(Arg132Gln)	NC_000020.10:g.746024C>T	(Likely) benign	2 labs	e7b90f5c59
8:126062801 WASHC5 G>C	8	126062801	126062801	G	C	WASHC5	c.2199+5C>G	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126062801G>C	(Likely) benign	2 labs	e7beb74adf
8:100493971 VPS13B A>T	8	100493971	100493971	A	T	VPS13B	c.3811A>T	NM_017890.5	NP_060360.3:p.(Thr1271Ser)	NC_000008.10:g.100493971A>T	VUS	3 labs	e7c3e4da7d
18:7017330 LAMA1 C>T	18	7017330	7017330	C	T	LAMA1	c.2755G>A	NM_005559.4	NP_005550.2:p.(Gly919Arg)	NC_000018.9:g.7017330C>T	VUS	2 labs	e7c7fbc21d
8:10480556 RP1L1 G>A	8	10480556	10480556	G	A	RP1L1	c.156C>T	NM_178857.6	NP_849188.4:p.(Ala52=)	NC_000008.10:g.10480556G>A	(Likely) benign	2 labs	e7c2a4e478
1:39788295 MACF1 C>A	1	39788295	39788295	C	A	MACF1	c.4060C>A	NM_012090.5	NP_036222.3:p.(Leu1354Met)	NC_000001.10:g.39788295C>A	(Likely) benign	2 labs	e7ce7d3e14
2:179462799 TTN A>G	2	179462799	179462799	A	G	TTN	c.57112-14T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179462799A>G	(Likely) benign	2 labs	e7d72b1f92
6:76572432 MYO6 C>T	6	76572432	76572432	C	T	MYO6	c.1666C>T	NM_004999.3	NP_004990.3:p.(Arg556Ter)	NC_000006.11:g.76572432C>T	(Likely) pathogenic	2 labs	e7d86bdccc
22:33670584 LARGE1 G>A	22	33670584	33670584	G	A	LARGE1	c.2100C>T	NM_004737.7	NP_004728.1:p.(Asn700=)	NC_000022.10:g.33670584G>A	(Likely) benign	3 labs	e7dba3c42d
6:152631852 SYNE1 G>A	6	152631852	152631852	G	A	SYNE1	c.16867C>T	NM_182961.3	NP_892006.3:p.(Arg5623Cys)	NC_000006.11:g.152631852G>A	VUS	2 labs	e7e3c8f7f5
1:236849952 ACTN2 C>T	1	236849952	236849952	C	T	ACTN2	c.-22C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236849952C>T	(Likely) benign	3 labs	e7f31f693e
9:6533078 GLDC G>T	9	6533078	6533078	G	T	GLDC	c.3002C>A	NM_000170.2	NP_000161.2:p.(Thr1001Asn)	NC_000009.11:g.6533078G>T	(Likely) benign	2 labs	e7f10b73a2
9:124083593 GSN A>G	9	124083593	124083593	A	G	GSN	c.1347A>G	NM_001127663.1	NP_001121135.2:p.(Thr449=)	NC_000009.11:g.124083593A>G	(Likely) benign	3 labs	e8006a970b
17:5462810 NLRP1 T>A	17	5462810	5462810	T	A	NLRP1	c.1206A>T	NM_033004.4	NP_127497.1:p.(Pro402=)	NC_000017.10:g.5462810T>A	(Likely) benign	2 labs	e80969f73b
6:33133555 COL11A2 C>T	6	33133555	33133555	C	T	COL11A2	c.4521G>A	NM_080680.2	NP_542411.2:p.(Gln1507=)	NC_000006.11:g.33133555C>T	(Likely) benign	2 labs	e811f7ef6e
17:41246888 BRCA1 AC>A	17	41246888	41246889	AC	A	BRCA1	c.671-12del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41246889del	(Likely) benign	2 labs	e80af2cc44
17:29665110 NF1 C>T	17	29665110	29665110	C	T	NF1	c.6709C>T	NM_000267.3	NP_000258.1:p.(Arg2237Ter)	NC_000017.10:g.29665110C>T	(Likely) pathogenic	2 labs	e826d28a70
14:92537354 ATXN3 C>CCTG	14	92537354	92537378	C	CCTG	ATXN3	c.913_915dup	NM_004993.6	NP_004984.2:p.(Gln305dup)	NC_000014.8:g.92537376_92537378dup	(Likely) benign	2 labs	e81fc19e88
17:17125976 FLCN C>T	17	17125976	17125976	C	T	FLCN	c.619-1G>A	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17125976C>T	(Likely) pathogenic	2 labs	e83b914a17
14:50100683 DNAAF2 C>G	14	50100683	50100683	C	G	DNAAF2	c.1185G>C	NM_018139.3	NP_060609.2:p.(Ala395=)	NC_000014.8:g.50100683C>G	(Likely) benign	2 labs	e83cbef641
11:65318672 LTBP3 G>C	11	65318672	65318672	G	C	LTBP3	c.1645C>G	NM_001130144.2	NP_001123616.1:p.(Pro549Ala)	NC_000011.9:g.65318672G>C	(Likely) benign	2 labs	e83dfda805
22:38131357 TRIOBP G>T	22	38131357	38131357	G	T	TRIOBP	c.5014G>T	NM_001039141.2	NP_001034230.1:p.(Gly1672Ter)	NC_000022.10:g.38131357G>T	(Likely) pathogenic	2 labs	e83f3a8e64
X:108908714 ACSL4 T>C	X	108908714	108908714	T	C	ACSL4	c.1448A>G	NM_022977.2	NP_075266.1:p.(Tyr483Cys)	NC_000023.10:g.108908714T>C	(Likely) benign	2 labs	e841312caf
3:50229197 GNAT1 G>A	3	50229197	50229197	G	A	GNAT1	c.39G>A	NM_144499.3	NP_653082.1:p.(Arg13=)	NC_000003.11:g.50229197G>A	(Likely) benign	2 labs	e8404b309a
20:61978149 CHRNA4 C>T	20	61978149	61978149	C	T	CHRNA4	c.1825G>A	NM_000744.7	NP_000735.1:p.(Val609Ile)	NC_000020.10:g.61978149C>T	VUS	2 labs	e849e3af18
13:20763113 GJB2 A>G	13	20763113	20763113	A	G	GJB2	c.608T>C	NM_004004.6	NP_003995.2:p.(Ile203Thr)	NC_000013.10:g.20763113A>G	(Likely) benign	2 labs	e84ba96ef6
1:45799120 MUTYH C>T	1	45799120	45799120	C	T	MUTYH	c.313G>A	NM_001128425.2	NP_001121897.1:p.(Asp105Asn)	NC_000001.10:g.45799120C>T	VUS	3 labs	e85a92df5d
5:73163965 ARHGEF28 C>A	5	73163965	73163965	C	A	ARHGEF28	c.2338C>A	NM_001080479.3	NP_001073948.2:p.(His780Asn)	NC_000005.9:g.73163965C>A	(Likely) benign	2 labs	e8603653ef
7:151879358 KMT2C G>C	7	151879358	151879358	G	C	KMT2C	c.5587C>G	NM_170606.3	NP_733751.2:p.(Pro1863Ala)	NC_000007.13:g.151879358G>C	(Likely) benign	2 labs	e884bfc413
10:86012747 RGR G>T	10	86012747	86012747	G	T	RGR	c.505G>T	NM_002921.4	NP_002912.2:p.(Asp169Tyr)	NC_000010.10:g.86012747G>T	VUS	2 labs	e883087b73
9:133759793 ABL1 G>A	9	133759793	133759793	G	A	ABL1	c.2173G>A	NM_007313.2	NP_009297.2:p.(Gly725Ser)	NC_000009.11:g.133759793G>A	(Likely) benign	2 labs	e889ac4f88
1:160268981 COPA G>A	1	160268981	160268981	G	A	COPA	c.1768C>T	NM_001098398.2	NP_001091868.1:p.(Leu590=)	NC_000001.10:g.160268981G>A	(Likely) benign	2 labs	e89196ee66
21:38877762 DYRK1A T>C	21	38877762	38877762	T	C	DYRK1A	c.1389T>C	NM_130436.2	NP_569120.1:p.(Tyr463=)	NC_000021.8:g.38877762T>C	(Likely) benign	2 labs	e8947d1536
15:89390551 ACAN A>T	15	89390551	89390551	A	T	ACAN	c.1507A>T	NM_013227.3	NP_037359.3:p.(Thr503Ser)	NC_000015.9:g.89390551A>T	VUS	3 labs	e8a1f030e1
3:148727064 GYG1 TG>T	3	148727064	148727068	TG	T	GYG1	c.487del	NM_004130.4	NP_004121.2:p.(Asp163ThrfsTer5)	NC_000003.11:g.148727068del	(Likely) pathogenic	2 labs	e8a9d92797
12:102163887 GNPTAB G>A	12	102163887	102163887	G	A	GNPTAB	c.1196C>T	NM_024312.4	NP_077288.2:p.(Ser399Phe)	NC_000012.11:g.102163887G>A	(Likely) pathogenic	2 labs	e8ada79e04
17:41276093 BRCA1 G>A	17	41276093	41276093	G	A	BRCA1	c.21C>T	NM_007294.4	NP_009225.1:p.(Arg7=)	NC_000017.10:g.41276093G>A	(Likely) benign	3 labs	e8af927d8e
1:201052449 CACNA1S G>A	1	201052449	201052449	G	A	CACNA1S	c.1234C>T	NM_000069.2	NP_000060.2:p.(Arg412Ter)	NC_000001.10:g.201052449G>A	VUS	2 labs	e8c688695d
17:18046898 MYO15A T>C	17	18046898	18046898	T	C	MYO15A	c.5929T>C	NM_016239.4	NP_057323.3:p.(Cys1977Arg)	NC_000017.10:g.18046898T>C	(Likely) benign	3 labs	e8d112c80a
2:179485706 TTN C>T	2	179485706	179485706	C	T	TTN	c.45631G>A	NM_001267550.1	NP_001254479.1:p.(Val15211Ile)	NC_000002.11:g.179485706C>T	VUS	2 labs	e8c9c18c67
4:39267748 WDR19 T>C	4	39267748	39267748	T	C	WDR19	c.3249T>C	NM_025132.4	NP_079408.3:p.(Asp1083=)	NC_000004.11:g.39267748T>C	(Likely) benign	2 labs	e8c96b4d2f
20:34092642 CEP250 CAGCGGGAGCTGG>C	20	34092642	34092659	CAGCGGGAGCTGG	C	CEP250	c.6451_6462del	NM_007186.6	NP_009117.2:p.(Glu2151_Arg2154del)	NC_000020.10:g.34092648_34092659del	VUS	2 labs	e8cc182849
1:7797625 CAMTA1 A>C	1	7797625	7797625	A	C	CAMTA1	c.3653A>C	NM_015215.3	NP_056030.1:p.(Asn1218Thr)	NC_000001.10:g.7797625A>C	(Likely) benign	2 labs	e8d71c7fb2
10:104161010 NFKB2 G>A	10	104161010	104161010	G	A	NFKB2	c.2145G>A	NM_001288724.1	NP_001275653.1:p.(Ser715=)	NC_000010.10:g.104161010G>A	(Likely) benign	2 labs	e8dd6feb07
13:37427655 SMAD9 G>T	13	37427655	37427655	G	T	SMAD9	c.1161C>A	NM_001127217.2	NP_001120689.1:p.(Asn387Lys)	NC_000013.10:g.37427655G>T	VUS	2 labs	e8ef60cb52
3:46904696 MYL3 CTG>C	3	46904696	46904698	CTG	C	MYL3	c.129+54_129+55del	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46904697_46904698del	(Likely) benign	2 labs	e8f1ba89a3
2:202137626 CASP8 A>C	2	202137626	202137626	A	C	CASP8	c.733A>C	NM_001080125.1	NP_001073594.1:p.(Ser245Arg)	NC_000002.11:g.202137626A>C	(Likely) benign	2 labs	e8f68ecad6
19:35524964 SCN1B G>A	19	35524964	35524964	G	A	SCN1B	c.769G>A	NM_199037.5	NP_950238.1:p.(Gly257Arg)	NC_000019.9:g.35524964G>A	(Likely) benign	5 labs	e8febcd290
15:51240208 AP4E1 T>C	15	51240208	51240208	T	C	AP4E1	c.1177-9T>C	NM_007347.4	NP_031373.2:p.?	NC_000015.9:g.51240208T>C	(Likely) benign	2 labs	e91089b7a7
10:92680025 ANKRD1 A>G	10	92680025	92680025	A	G	ANKRD1	c.108T>C	NM_014391.2	NP_055206.2:p.(Ala36=)	NC_000010.10:g.92680025A>G	(Likely) benign	2 labs	e9146da9cc
1:201336028 TNNT2 G>C	1	201336028	201336028	G	C	TNNT2	c.170-29C>G	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201336028G>C	(Likely) benign	2 labs	e915eee484
5:52394489 MOCS2 G>A	5	52394489	52394489	G	A	MOCS2	c.510C>T	NM_004531.4	NP_004522.1:p.(Tyr170=)	NC_000005.9:g.52394489G>A	(Likely) benign	2 labs	e919a426fb
17:48273519 COL1A1 G>A	17	48273519	48273519	G	A	COL1A1	c.999C>T	NM_000088.3	NP_000079.2:p.(Pro333=)	NC_000017.10:g.48273519G>A	(Likely) benign	2 labs	e91a0af133
16:89590667 SPG7 T>C	16	89590667	89590667	T	C	SPG7	c.618+12T>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590667T>C	(Likely) benign	3 labs	e924162771
11:66283402 BBS1 C>T	11	66283402	66283402	C	T	BBS1	c.589C>T	NM_024649.5	NP_078925.3:p.(Gln197Ter)	NC_000011.9:g.66283402C>T	(Likely) pathogenic	2 labs	e925cfe219
3:14206353 XPC A>C	3	14206353	14206353	A	C	XPC	c.860T>G	NM_004628.4	NP_004619.3:p.(Phe287Cys)	NC_000003.11:g.14206353A>C	(Likely) benign	2 labs	e92e5e584d
19:45867259 ERCC2 C>T	19	45867259	45867259	C	T	ERCC2	c.934G>A	NM_000400.4	NP_000391.1:p.(Asp312Asn)	NC_000019.9:g.45867259C>T	(Likely) benign	2 labs	e9350b410a
7:66458362 SBDS GTCTT>G	7	66458362	66458371	GTCTT	G	SBDS	c.297_300del	NM_016038.4	NP_057122.2:p.(Glu99AspfsTer21)	NC_000007.13:g.66458368_66458371del	(Likely) pathogenic	2 labs	e93d475fb6
8:55541819 RP1 C>T	8	55541819	55541819	C	T	RP1	c.5377C>T	NM_006269.2	NP_006260.1:p.(Pro1793Ser)	NC_000008.10:g.55541819C>T	(Likely) benign	2 labs	e93b0e7905
2:152370904 NEB C>T	2	152370904	152370904	C	T	NEB	c.23160G>A	NM_001271208.1	NP_001258137.1:p.(Gly7720=)	NC_000002.11:g.152370904C>T	(Likely) benign	2 labs	e940fe5e95
19:15303225 NOTCH3 G>A	19	15303225	15303225	G	A	NOTCH3	c.303C>T	NM_000435.3	NP_000426.2:p.(Thr101=)	NC_000019.9:g.15303225G>A	(Likely) benign	2 labs	e946115a35
16:50744568 NOD2 A>G	16	50744568	50744568	A	G	NOD2	c.746A>G	NM_022162.3	NP_071445.1:p.(Glu249Gly)	NC_000016.9:g.50744568A>G	VUS	3 labs	e948ac3791
22:35782863 HMOX1 C>T	22	35782863	35782863	C	T	HMOX1	c.330C>T	NM_002133.2	NP_002124.1:p.(Ala110=)	NC_000022.10:g.35782863C>T	(Likely) benign	2 labs	e9566b154a
8:6302962 MCPH1 C>T	8	6302962	6302962	C	T	MCPH1	c.1719C>T	NM_024596.4	NP_078872.2:p.(Ser573=)	NC_000008.10:g.6302962C>T	(Likely) benign	2 labs	e9566ee9f3
19:7184420 INSR T>C	19	7184420	7184420	T	C	INSR	c.881A>G	NM_000208.3	NP_000199.2:p.(Lys294Arg)	NC_000019.9:g.7184420T>C	(Likely) benign	2 labs	e956a50f74
X:48649679 GATA1 G>A	X	48649679	48649679	G	A	GATA1	c.163G>A	NM_002049.3	NP_002040.1:p.(Ala55Thr)	NC_000023.10:g.48649679G>A	(Likely) benign	2 labs	e95eeb55e2
2:109380345 RANBP2 C>T	2	109380345	109380345	C	T	RANBP2	c.3350C>T	NM_006267.4	NP_006258.3:p.(Ser1117Leu)	NC_000002.11:g.109380345C>T	(Likely) benign	2 labs	e96345aa43
6:139226272 REPS1 GA>G	6	139226272	139226277	GA	G	REPS1	c.2323-4del	NM_001286611.2	NP_001273540.1:p.?	NC_000006.11:g.139226277del	(Likely) benign	2 labs	e963edf84a
X:63563592 MTMR8 A>T	X	63563592	63563592	A	T	MTMR8	c.874T>A	NM_017677.3	NP_060147.2:p.(Leu292Met)	NC_000023.10:g.63563592A>T	(Likely) benign	2 labs	e9648a669e
17:41199729 BRCA1 C>T	17	41199729	41199729	C	T	BRCA1	c.5407-9G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41199729C>T	VUS	2 labs	e968583484
9:99017146 HSD17B3 T>A	9	99017146	99017146	T	A	HSD17B3	c.277+4A>T	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99017146T>A	(Likely) pathogenic	2 labs	e9686b7f65
9:136501768 DBH G>A	9	136501768	136501768	G	A	DBH	c.275G>A	NM_000787.4	NP_000778.3:p.(Arg92His)	NC_000009.11:g.136501768G>A	VUS	2 labs	e971f876a0
17:79478017 ACTG1 G>A	17	79478017	79478017	G	A	ACTG1	c.920C>T	NM_001199954.2	NP_001186883.1:p.(Pro307Leu)	NC_000017.10:g.79478017G>A	VUS	3 labs	e9782504c7
10:97376337 ALDH18A1 A>G	10	97376337	97376337	A	G	ALDH18A1	c.1502T>C	NM_001323413.1	NP_001310342.1:p.(Leu501Ser)	NC_000010.10:g.97376337A>G	VUS	2 labs	e97a0de14c
1:216251594 USH2A G>C	1	216251594	216251594	G	C	USH2A	c.5409C>G	NM_206933.2	NP_996816.2:p.(Val1803=)	NC_000001.10:g.216251594G>C	(Likely) benign	2 labs	e97abb57d4
22:21349037 LZTR1 A>G	22	21349037	21349037	A	G	LZTR1	c.1785+21A>G	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21349037A>G	(Likely) benign	2 labs	e97ba3a65b
3:4459755 SUMF1 C>G	3	4459755	4459755	C	G	SUMF1	c.664G>C	NM_182760.3	NP_877437.2:p.(Gly222Arg)	NC_000003.11:g.4459755C>G	VUS	3 labs	e97bba03c6
22:33673126 LARGE1 G>A	22	33673126	33673126	G	A	LARGE1	c.1993C>T	NM_004737.5	NP_004728.1:p.(Arg665Cys)	NC_000022.10:g.33673126G>A	VUS	2 labs	e97e511159
15:51772229 DMXL2 C>G	15	51772229	51772229	C	G	DMXL2	c.6672G>C	NM_001174116.1	NP_001167587.1:p.(Leu2224Phe)	NC_000015.9:g.51772229C>G	VUS	2 labs	e988f5d586
18:6964715 LAMA1 C>T	18	6964715	6964715	C	T	LAMA1	c.7283G>A	NM_005559.4	NP_005550.2:p.(Arg2428His)	NC_000018.9:g.6964715C>T	VUS	3 labs	e98a657a89
10:88635779 BMPR1A C>A	10	88635779	88635779	C	A	BMPR1A	c.4C>A	NM_004329.2	NP_004320.2:p.(Pro2Thr)	NC_000010.10:g.88635779C>A	(Likely) benign	2 labs	e990400880
7:117305631 CFTR A>G	7	117305631	117305631	A	G	CFTR	c.4242+13A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117305631A>G	(Likely) benign	3 labs	e999363226
14:50101161 DNAAF2 G>A	14	50101161	50101161	G	A	DNAAF2	c.707C>T	NM_018139.2	NP_060609.2:p.(Pro236Leu)	NC_000014.8:g.50101161G>A	(Likely) benign	2 labs	e99c67d7c6
19:18170874 IL12RB1 C>A	19	18170874	18170874	C	A	IL12RB1	c.1813G>T	NM_005535.1	NP_005526.1:p.(Val605Leu)	NC_000019.9:g.18170874C>A	(Likely) benign	2 labs	e99c6e3cc2
1:152279728 FLG C>A	1	152279728	152279728	C	A	FLG	c.7634G>T	NM_002016.2	NP_002007.1:p.(Gly2545Val)	NC_000001.10:g.152279728C>A	(Likely) benign	2 labs	e9a69776a9
15:41352074 INO80 G>A	15	41352074	41352074	G	A	INO80	c.1833C>T	NM_017553.3	NP_060023.1:p.(Phe611=)	NC_000015.9:g.41352074G>A	(Likely) benign	2 labs	e9a6e982a9
11:31811485 PAX6 C>T	11	31811485	31811485	C	T	PAX6	c.858G>A	NM_001310160.1	NP_001297089.1:p.(Gln286=)	NC_000011.9:g.31811485C>T	(Likely) benign	2 labs	e9ae147f12
17:29654736 NF1 C>T	17	29654736	29654736	C	T	NF1	c.5425C>T	NM_000267.3	NP_000258.1:p.(Arg1809Cys)	NC_000017.10:g.29654736C>T	(Likely) pathogenic	2 labs	e9b2ed7537
4:77100837 SCARB2 C>T	4	77100837	77100837	C	T	SCARB2	c.445G>A	NM_005506.3	NP_005497.1:p.(Val149Met)	NC_000004.11:g.77100837C>T	(Likely) benign	2 labs	e9c1b2551f
17:41215920 BRCA1 G>T	17	41215920	41215920	G	T	BRCA1	c.5123C>A	NM_007294.4	NP_009225.1:p.(Ala1708Glu)	NC_000017.10:g.41215920G>T	(Likely) pathogenic	4 labs	e9c4ae32e9
1:3350290 PRDM16 C>G	1	3350290	3350290	C	G	PRDM16	c.3746C>G	NM_022114.4	NP_071397.3:p.(Pro1249Arg)	NC_000001.10:g.3350290C>G	VUS	2 labs	e9de053af0
11:117860305 IL10RA G>A	11	117860305	117860305	G	A	IL10RA	c.337G>A	NM_001558.3	NP_001549.2:p.(Val113Ile)	NC_000011.9:g.117860305G>A	(Likely) benign	2 labs	e9e82b3544
9:130928611 CIZ1 G>A	9	130928611	130928611	G	A	CIZ1	c.2730C>T	NM_001257975.2	NP_001244904.1:p.(Asn910=)	NC_000009.11:g.130928611G>A	(Likely) benign	2 labs	e9fd20721b
19:1621907 TCF3 TGAG>T	19	1621907	1621913	TGAG	T	TCF3	c.882_884del	NM_003200.5	NP_003191.1:p.(Ser295del)	NC_000019.9:g.1621911_1621913del	(Likely) benign	3 labs	e9fdd43b56
4:79360063 FRAS1 G>A	4	79360063	79360063	G	A	FRAS1	c.5374G>A	NM_025074.7	NP_079350.5:p.(Ala1792Thr)	NC_000004.11:g.79360063G>A	(Likely) benign	3 labs	e9fed4bdb4
X:67652730 OPHN1 C>T	X	67652730	67652730	C	T	OPHN1	c.133G>A	NM_002547.2	NP_002538.1:p.(Ala45Thr)	NC_000023.10:g.67652730C>T	(Likely) benign	3 labs	ea00a23e76
2:170099474 LRP2 G>A	2	170099474	170099474	G	A	LRP2	c.3659C>T	NM_004525.3	NP_004516.2:p.(Ala1220Val)	NC_000002.11:g.170099474G>A	(Likely) benign	2 labs	ea033f1838
17:35549225 ACACA G>A	17	35549225	35549225	G	A	ACACA	c.4111C>T	NM_198839.2	NP_942136.1:p.(Arg1371Cys)	NC_000017.10:g.35549225G>A	VUS	2 labs	ea12b55aa3
X:12736383 FRMPD4 A>C	X	12736383	12736383	A	C	FRMPD4	c.3438A>C	NM_014728.3	NP_055543.2:p.(Gln1146His)	NC_000023.10:g.12736383A>C	(Likely) benign	2 labs	ea13808052
X:100745080 ARMCX4 G>A	X	100745080	100745080	G	A	ARMCX4	c.1504G>A	NM_001256155.2	NP_001243084.2:p.(Glu502Lys)	NC_000023.10:g.100745080G>A	(Likely) benign	2 labs	ea15f07cdd
12:22005422 ABCC9 G>A	12	22005422	22005422	G	A	ABCC9	c.2523C>T	NM_020297.4	NP_064693.2:p.(Ala841=)	NC_000012.11:g.22005422G>A	(Likely) benign	6 labs	ea22e1a954
1:160323977 NCSTN A>T	1	160323977	160323977	A	T	NCSTN	c.1189A>T	NM_001290184.1	NP_001277113.1:p.(Asn397Tyr)	NC_000001.10:g.160323977A>T	(Likely) benign	2 labs	ea25d2b79b
17:7127641 ACADVL C>T	17	7127641	7127641	C	T	ACADVL	c.1306C>T	NM_001270448.1	NP_001257377.1:p.(Arg436Trp)	NC_000017.10:g.7127641C>T	VUS	2 labs	ea2f91a06b
16:27460020 IL21R G>A	16	27460020	27460020	G	A	IL21R	c.1099G>A	NM_181079.4	NP_851565.4:p.(Gly367Ser)	NC_000016.9:g.27460020G>A	(Likely) benign	2 labs	ea31326eb8
19:36564446 WDR62 C>T	19	36564446	36564446	C	T	WDR62	c.1233+13C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36564446C>T	(Likely) benign	2 labs	ea3266d5ce
8:61769117 CHD7 G>A	8	61769117	61769117	G	A	CHD7				NC_000008.10:g.61769117G>A	(Likely) benign	4 labs	ea399a32fb
2:114257369 FOXD4L1 C>A	2	114257369	114257369	C	A	FOXD4L1	c.536C>A	NM_012184.4	NP_036316.1:p.(Thr179Asn)	NC_000002.11:g.114257369C>A	(Likely) benign	2 labs	ea3a45b40f
9:135779052 TSC1 G>A	9	135779052	135779052	G	A	TSC1	c.2194C>T	NM_000368.5	NP_000359.1:p.(His732Tyr)	NC_000009.11:g.135779052G>A	(Likely) benign	4 labs	ea3c8a49fe
22:24143240 SMARCB1 C>T	22	24143240	24143240	C	T	SMARCB1	c.472C>T	NM_003073.3	NP_003064.2:p.(Arg158Ter)	NC_000022.10:g.24143240C>T	(Likely) pathogenic	2 labs	ea3ef74d7d
1:46527598 PIK3R3 T>TA	1	46527598	46527599	T	TA	PIK3R3	c.764+2dup	NM_003629.4	NP_003620.3:p.?	NC_000001.10:g.46527599dup	(Likely) benign	2 labs	ea51d24200
20:44047493 PIGT G>T	20	44047493	44047493	G	T	PIGT	c.367G>T	NM_015937.5	NP_057021.2:p.(Val123Leu)	NC_000020.10:g.44047493G>T	(Likely) benign	2 labs	ea53c85204
18:28648975 DSC2 C>T	18	28648975	28648975	C	T	DSC2	c.2393G>A	NM_004949.5	NP_004940.1:p.(Arg798Gln)	NC_000018.9:g.28648975C>T	(Likely) benign	6 labs	ea5499358c
X:135291500 FHL1 G>A	X	135291500	135291500	G	A	FHL1	c.787G>A	NM_001159702.2	NP_001153174.1:p.(Ala263Thr)	NC_000023.10:g.135291500G>A	VUS	2 labs	ea57cc25be
3:135871065 MSL2 C>A	3	135871065	135871065	C	A	MSL2	c.658G>T	NM_018133.4	NP_060603.2:p.(Val220Leu)	NC_000003.11:g.135871065C>A	(Likely) benign	2 labs	ea5dd5192c
17:78188543 SGSH A>AC	17	78188543	78188544	A	AC	SGSH	c.376dup	NM_000199.4	NP_000190.1:p.(Val126GlyfsTer10)	NC_000017.10:g.78188544dup	(Likely) pathogenic	3 labs	ea5ee8e63e
10:55582199 PCDH15 CAGGAGCAGG>C	10	55582199	55582213	CAGGAGCAGG	C	PCDH15	c.5299_5307del	NM_001142763.2	NP_001136235.1:p.(Pro1767_Pro1769del)	NC_000010.10:g.55582205_55582213del	(Likely) benign	2 labs	ea62aabc73
X:40490015 CXorf38 C>T	X	40490015	40490015	C	T	CXorf38	c.812G>A	NM_144970.2	NP_659407.1:p.(Arg271Gln)	NC_000023.10:g.40490015C>T	(Likely) benign	2 labs	ea79aba3b0
2:152512420 NEB G>A	2	152512420	152512420	G	A	NEB	c.6613C>T	NM_001271208.1	NP_001258137.1:p.(Arg2205Cys)	NC_000002.11:g.152512420G>A	VUS	2 labs	ea79e38833
12:82070607 PPFIA2 G>C	12	82070607	82070607	G	C	PPFIA2	c.266C>G	NM_003625.5	NP_003616.2:p.(Thr89Arg)	NC_000012.11:g.82070607G>C	(Likely) benign	2 labs	ea8504a13b
17:29652932 NF1 G>A	17	29652932	29652932	G	A	NF1	c.4867G>A	NM_000267.3	NP_000258.1:p.(Asp1623Asn)	NC_000017.10:g.29652932G>A	(Likely) pathogenic	2 labs	ea7f38454d
16:5132579 ALG1 C>G	16	5132579	5132579	C	G	ALG1	c.1092C>G	NM_019109.4	NP_061982.3:p.(Val364=)	NC_000016.9:g.5132579C>G	(Likely) benign	2 labs	ea843ac87c
1:103461406 COL11A1 CAATTA>C	1	103461406	103461415	CAATTA	C	COL11A1	c.2376+9_2376+13del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103461411_103461415del	(Likely) benign	2 labs	ea7cc5e849
4:123949354 AFG2A A>G	4	123949354	123949354	A	G	AFG2A	c.1883A>G	NM_145207.2	NP_660208.2:p.(Asp628Gly)	NC_000004.11:g.123949354A>G	(Likely) pathogenic	3 labs	ea8bc898c6
6:119147356 MCM9 G>C	6	119147356	119147356	G	C	MCM9	c.1915C>G	NM_017696.3	NP_060166.2:p.(Leu639Val)	NC_000006.11:g.119147356G>C	VUS	3 labs	ea8be565e5
2:63486429 WDPCP C>T	2	63486429	63486429	C	T	WDPCP	c.1915+13G>A	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63486429C>T	(Likely) benign	3 labs	ea9a5ad89b
12:88477682 CEP290 T>C	12	88477682	88477682	T	C	CEP290	c.4754A>G	NM_025114.4	NP_079390.3:p.(His1585Arg)	NC_000012.11:g.88477682T>C	VUS	3 labs	ea9f953f59
2:32463365 NLRC4 C>A	2	32463365	32463365	C	A	NLRC4	c.2357G>T	NM_021209.4	NP_067032.3:p.(Gly786Val)	NC_000002.11:g.32463365C>A	(Likely) benign	2 labs	eaa41d06a3
8:144993230 PLEC G>A	8	144993230	144993230	G	A	PLEC	c.11170C>T	NM_201380.3	NP_958782.1:p.(Leu3724=)	NC_000008.10:g.144993230G>A	(Likely) benign	2 labs	eaa6fc21c7
X:139586280 SOX3 C>T	X	139586280	139586280	C	T	SOX3	c.946G>A	NM_005634.2	NP_005625.2:p.(Gly316Ser)	NC_000023.10:g.139586280C>T	(Likely) benign	2 labs	eaa794044a
11:126141370 FOXRED1 A>C	11	126141370	126141370	A	C	FOXRED1	c.124A>C	NM_017547.4	NP_060017.1:p.(Lys42Gln)	NC_000011.9:g.126141370A>C	(Likely) benign	2 labs	eab6417385
6:133789787 EYA4 G>A	6	133789787	133789787	G	A	EYA4	c.888G>A	NM_004100.5	NP_004091.3:p.(Ser296=)	NC_000006.11:g.133789787G>A	(Likely) benign	2 labs	eab6bad5a3
16:28912072 ATP2A1 C>T	16	28912072	28912072	C	T	ATP2A1	c.1935C>T	NM_004320.4	NP_004311.1:p.(Asn645=)	NC_000016.9:g.28912072C>T	(Likely) benign	2 labs	eabab1c0ba
19:50826326 KCNC3 C>T	19	50826326	50826326	C	T	KCNC3	c.1884G>A	NM_004977.2	NP_004968.2:p.(Ala628=)	NC_000019.9:g.50826326C>T	(Likely) benign	2 labs	eac09676c8
17:41243908 BRCA1 C>A	17	41243908	41243908	C	A	BRCA1	c.3640G>T	NM_007294.4	NP_009225.1:p.(Glu1214Ter)	NC_000017.10:g.41243908C>A	(Likely) pathogenic	3 labs	eac9c6b310
16:1608082 IFT140 A>G	16	1608082	1608082	A	G	IFT140	c.2253T>C	NM_014714.3	NP_055529.2:p.(Pro751=)	NC_000016.9:g.1608082A>G	(Likely) benign	2 labs	eacdf6656d
17:40693051 NAGLU C>T	17	40693051	40693051	C	T	NAGLU	c.848C>T	NM_000263.3	NP_000254.2:p.(Pro283Leu)	NC_000017.10:g.40693051C>T	VUS	2 labs	eaced48925
X:79932387 BRWD3 C>A	X	79932387	79932387	C	A	BRWD3	c.5130G>T	NM_153252.4	NP_694984.4:p.(Gly1710=)	NC_000023.10:g.79932387C>A	(Likely) benign	2 labs	eae13c4bc8
16:50741792 NOD2 G>A	16	50741792	50741792	G	A	NOD2	c.567G>A	NM_022162.1	NP_071445.1:p.(Thr189=)	NC_000016.9:g.50741792G>A	(Likely) benign	2 labs	eae4ea736f
17:29585518 NF1 A>G	17	29585518	29585518	A	G	NF1	c.4267A>G	NM_000267.3	NP_000258.1:p.(Lys1423Glu)	NC_000017.10:g.29585518A>G	(Likely) pathogenic	2 labs	eaf4e045f4
13:32930687 BRCA2 C>T	13	32930687	32930687	C	T	BRCA2	c.7558C>T	NM_000059.4	NP_000050.3:p.(Arg2520Ter)	NC_000013.10:g.32930687C>T	(Likely) pathogenic	4 labs	eaf8606cc3
X:84634375 POF1B G>T	X	84634375	84634375	G	T	POF1B	c.85C>A	NM_024921.3	NP_079197.3:p.(His29Asn)	NC_000023.10:g.84634375G>T	(Likely) benign	2 labs	eafb70e1df
13:111164386 COL4A2 G>A	13	111164386	111164386	G	A	COL4A2	c.4987G>A	NM_001846.4	NP_001837.2:p.(Gly1663Ser)	NC_000013.10:g.111164386G>A	VUS	3 labs	eafe821547
13:110835427 COL4A1 C>T	13	110835427	110835427	C	T	COL4A1	c.2008G>A	NM_001845.5	NP_001836.3:p.(Gly670Arg)	NC_000013.10:g.110835427C>T	(Likely) pathogenic	2 labs	eb16b255ef
7:128484111 FLNC G>A	7	128484111	128484111	G	A	FLNC	c.2983G>A	NM_001458.4	NP_001449.3:p.(Gly995Ser)	NC_000007.13:g.128484111G>A	VUS	2 labs	eb19bbc88b
2:179499293 TTN C>T	2	179499293	179499293	C	T	TTN	c.42215G>A	NM_001267550.1	NP_001254479.1:p.(Arg14072Gln)	NC_000002.11:g.179499293C>T	VUS	2 labs	eb25333f75
10:95553013 LGI1 G>A	10	95553013	95553013	G	A	LGI1	c.744G>A	NM_005097.3	NP_005088.1:p.(Glu248=)	NC_000010.10:g.95553013G>A	(Likely) benign	2 labs	eb289b8999
X:125685583 DCAF12L1 C>T	X	125685583	125685583	C	T	DCAF12L1	c.1009G>A	NM_178470.4	NP_848565.2:p.(Asp337Asn)	NC_000023.10:g.125685583C>T	(Likely) benign	2 labs	eb332241db
5:176638615 NSD1 G>A	5	176638615	176638615	G	A	NSD1	c.3215G>A	NM_022455.4	NP_071900.2:p.(Arg1072Gln)	NC_000005.9:g.176638615G>A	(Likely) benign	2 labs	eb383c41ee
5:78260300 ARSB T>C	5	78260300	78260300	T	C	ARSB	c.629A>G	NM_000046.5	NP_000037.2:p.(Tyr210Cys)	NC_000005.9:g.78260300T>C	(Likely) pathogenic	4 labs	eb40b9cc92
1:216011349 USH2A G>A	1	216011349	216011349	G	A	USH2A	c.9355C>T	NM_206933.2	NP_996816.2:p.(Arg3119Cys)	NC_000001.10:g.216011349G>A	VUS	2 labs	eb4504df64
X:48661360 HDAC6 T>C	X	48661360	48661360	T	C	HDAC6	c.176T>C	NM_001321226.1	NP_001308155.1:p.(Leu59Pro)	NC_000023.10:g.48661360T>C	VUS	2 labs	eb453bf0b1
17:44071319 MAPT C>A	17	44071319	44071319	C	A	MAPT	c.1537C>A	NM_001123066.3	NP_001116538.2:p.(Pro513Thr)	NC_000017.10:g.44071319C>A	VUS	2 labs	eb4555d64d
12:4609440 FERRY3 T>TC	12	4609440	4609442	T	TC	FERRY3	c.1303dup	NM_020374.3	NP_065107.1:p.(Asp435GlyfsTer2)	NC_000012.11:g.4609442dup	(Likely) pathogenic	2 labs	eb4588b165
2:238280758 COL6A3 C>T	2	238280758	238280758	C	T	COL6A3	c.3902G>A	NM_004369.3	NP_004360.2:p.(Arg1301Gln)	NC_000002.11:g.238280758C>T	VUS	2 labs	eb58321b9d
1:112524708 KCND3 T>C	1	112524708	112524708	T	C	KCND3	c.641A>G	NM_004980.4	NP_004971.2:p.(Lys214Arg)	NC_000001.10:g.112524708T>C	(Likely) benign	2 labs	eb589efe00
13:20657133 ZMYM2 C>T	13	20657133	20657133	C	T	ZMYM2	c.3781C>T	NM_001353162.1	NP_001340091.1:p.(Arg1261Ter)	NC_000013.10:g.20657133C>T	(Likely) pathogenic	2 labs	eb5b295aa1
6:157099186 ARID1B CGCGGCGGCA>C	6	157099186	157099204	CGCGGCGGCA	C	ARID1B	c.382_390del	NM_001371656.1	NP_001358585.1:p.(Ala128_Ala130del)	NC_000006.11:g.157099196_157099204del	(Likely) benign	2 labs	eb63080382
X:147743741 AFF2 A>G	X	147743741	147743741	A	G	AFF2	c.493A>G	NM_002025.3	NP_002016.2:p.(Asn165Asp)	NC_000023.10:g.147743741A>G	(Likely) benign	2 labs	eb624336e6
13:103524647 ERCC5 C>G	13	103524647	103524647	C	G	ERCC5	c.2778C>G	NM_000123.3	NP_000114.2:p.(Gly926=)	NC_000013.10:g.103524647C>G	(Likely) benign	2 labs	eb6832751a
2:85893771 SFTPB G>GTT	2	85893771	85893772	G	GTT	SFTPB	c.361_362insAA	NM_198843.3	NP_942140.3:p.(Pro121GlnfsTer95)	NC_000002.11:g.85893771_85893772insTT	(Likely) pathogenic	2 labs	eb6a735b6d
X:619539 SHOX G>A	X	619539	619539	G	A	SHOX	c.653G>A	NM_006883.2	NP_006874.1:p.(Arg218His)	NC_000023.10:g.619539G>A	(Likely) benign	2 labs	eb6940b700
22:21348914 LZTR1 C>T	22	21348914	21348914	C	T	LZTR1	c.1683C>T	NM_006767.3	NP_006758.2:p.(Arg561=)	NC_000022.10:g.21348914C>T	(Likely) benign	2 labs	eb74ed0b49
15:91328183 BLM C>T	15	91328183	91328183	C	T	BLM	c.2695C>T	NM_000057.4	NP_000048.1:p.(Arg899Ter)	NC_000015.9:g.91328183C>T	(Likely) pathogenic	4 labs	eb89eb9a8e
12:5021228 KCNA1 T>C	12	5021228	5021228	T	C	KCNA1	c.684T>C	NM_000217.3	NP_000208.2:p.(Cys228=)	NC_000012.11:g.5021228T>C	(Likely) benign	3 labs	eb940b0041
14:21770644 RPGRIP1 T>C	14	21770644	21770644	T	C	RPGRIP1	c.491-3T>C	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21770644T>C	(Likely) benign	2 labs	eb9a2fb7d0
22:51020762 CHKB G>A	22	51020762	51020762	G	A	CHKB	c.249C>T	NM_005198.4	NP_005189.2:p.(Phe83=)	NC_000022.10:g.51020762G>A	(Likely) benign	2 labs	eba30f1186
18:50918205 DCC G>A	18	50918205	50918205	G	A	DCC	c.2636G>A	NM_005215.4	NP_005206.2:p.(Arg879Gln)	NC_000018.9:g.50918205G>A	VUS	2 labs	eba757a09b
17:18024266 MYO15A T>G	17	18024266	18024266	T	G	MYO15A	c.2152T>G	NM_016239.4	NP_057323.3:p.(Trp718Gly)	NC_000017.10:g.18024266T>G	(Likely) benign	3 labs	ebac552f9f
2:231077155 SP110 G>C	2	231077155	231077155	G	C	SP110	c.584-10C>G	NM_080424.2	NP_536349.2:p.?	NC_000002.11:g.231077155G>C	(Likely) benign	2 labs	ebbb6046ae
7:73475461 ELN C>A	7	73475461	73475461	C	A	ELN	c.1964C>A	NM_001278939.1	NP_001265868.1:p.(Ala655Asp)	NC_000007.13:g.73475461C>A	VUS	2 labs	ebc4042242
4:6292967 WFS1 C>T	4	6292967	6292967	C	T	WFS1	c.504C>T	NM_006005.3	NP_005996.2:p.(Ser168=)	NC_000004.11:g.6292967C>T	(Likely) benign	2 labs	ebc8315817
13:32918762 BRCA2 C>T	13	32918762	32918762	C	T	BRCA2	c.6909C>T	NM_000059.3	NP_000050.2:p.(Ser2303=)	NC_000013.10:g.32918762C>T	(Likely) benign	2 labs	ebe7c7d605
3:123457893 MYLK G>A	3	123457893	123457893	G	A	MYLK	c.439C>T	NM_053025.4	NP_444253.3:p.(Pro147Ser)	NC_000003.11:g.123457893G>A	(Likely) benign	3 labs	ebece87eb5
X:32834681 DMD C>T	X	32834681	32834681	C	T	DMD	c.434G>A	NM_004006.3	NP_003997.2:p.(Arg145Gln)	NC_000023.10:g.32834681C>T	VUS	3 labs	ebf42b22a1
22:30032794 NF2 C>T	22	30032794	30032794	C	T	NF2	c.169C>T	NM_000268.3	NP_000259.1:p.(Arg57Ter)	NC_000022.10:g.30032794C>T	(Likely) pathogenic	2 labs	ebf2243871
1:197398708 CRB1 G>A	1	197398708	197398708	G	A	CRB1	c.2734G>A	NM_001257965.1	NP_001244894.1:p.(Gly912Arg)	NC_000001.10:g.197398708G>A	(Likely) benign	2 labs	ebf5a7526e
2:216995680 XRCC5 C>T	2	216995680	216995680	C	T	XRCC5	c.1020C>T	NM_021141.3	NP_066964.1:p.(Phe340=)	NC_000002.11:g.216995680C>T	(Likely) benign	2 labs	ebf7183263
13:100634531 ZIC2 G>A	13	100634531	100634531	G	A	ZIC2	c.213G>A	NM_007129.4	NP_009060.2:p.(Pro71=)	NC_000013.10:g.100634531G>A	(Likely) benign	2 labs	ec032936e1
1:197055925 ASPM T>C	1	197055925	197055925	T	C	ASPM	c.10331+8A>G	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197055925T>C	(Likely) benign	3 labs	ec03e5afae
2:210682603 UNC80 C>G	2	210682603	210682603	C	G	UNC80	c.1620C>G	NM_032504.1	NP_115893.1:p.(Ser540=)	NC_000002.11:g.210682603C>G	(Likely) benign	2 labs	ec139f53f4
16:15820917 MYH11 G>A	16	15820917	15820917	G	A	MYH11	c.3673-6C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15820917G>A	(Likely) benign	5 labs	ec12d282fc
8:145011204 PLEC A>C	8	145011204	145011204	A	C	PLEC	c.789T>G	NM_201380.4	NP_958782.1:p.(Ala263=)	NC_000008.10:g.145011204A>C	(Likely) benign	4 labs	ec190607f0
2:179466511 TTN C>T	2	179466511	179466511	C	T	TTN	c.55306G>A	NM_001267550.2	NP_001254479.2:p.(Glu18436Lys)	NC_000002.11:g.179466511C>T	VUS	4 labs	ec199dc20c
1:3329051 PRDM16 G>A	1	3329051	3329051	G	A	PRDM16	c.2290G>A	NM_022114.4	NP_071397.3:p.(Val764Met)	NC_000001.10:g.3329051G>A	(Likely) benign	5 labs	ec262d0345
16:89346031 ANKRD11 G>A	16	89346031	89346031	G	A	ANKRD11	c.6919C>T	NM_001256182.1	NP_001243111.1:p.(Pro2307Ser)	NC_000016.9:g.89346031G>A	(Likely) benign	3 labs	ec21c79d38
9:133936501 LAMC3 G>A	9	133936501	133936501	G	A	LAMC3	c.2238G>A	NM_006059.3	NP_006050.3:p.(Ala746=)	NC_000009.11:g.133936501G>A	VUS	2 labs	ec27d5a6e5
4:123856880 AFG2A C>T	4	123856880	123856880	C	T	AFG2A	c.1159C>T	NM_145207.2	NP_660208.2:p.(Pro387Ser)	NC_000004.11:g.123856880C>T	(Likely) benign	2 labs	ec31814142
4:9255170 USP17L19 T>C	4	9255170	9255170	T	C	USP17L19	c.67T>C	NM_001256860.1	NP_001243789.1:p.(Ser23Pro)	NC_000004.11:g.9255170T>C	(Likely) benign	2 labs	ec366c066d
5:67576437 PIK3R1 C>T	5	67576437	67576437	C	T	PIK3R1	c.716C>T	NM_181523.3	NP_852664.1:p.(Thr239Met)	NC_000005.9:g.67576437C>T	VUS	3 labs	ec38aa9d05
13:36158038 NBEA A>G	13	36158038	36158038	A	G	NBEA	c.7039A>G	NM_015678.5	NP_056493.3:p.(Ile2347Val)	NC_000013.10:g.36158038A>G	(Likely) benign	2 labs	ec3b2d7981
16:75574052 TMEM231 T>G	16	75574052	75574052	T	G	TMEM231	c.791A>C	NM_001077418.3	NP_001070886.1:p.(Glu264Ala)	NC_000016.9:g.75574052T>G	VUS	2 labs	ec42029cfb
9:131008708 DNM1 C>T	9	131008708	131008708	C	T	DNM1	c.1707C>T	NM_001288738.1	NP_001275667.1:p.(Asn569=)	NC_000009.11:g.131008708C>T	(Likely) benign	2 labs	ec48deb746
2:88926639 EIF2AK3 C>T	2	88926639	88926639	C	T	EIF2AK3	c.154G>A	NM_004836.6	NP_004827.4:p.(Ala52Thr)	NC_000002.11:g.88926639C>T	(Likely) benign	2 labs	ec4e239138
7:151864301 KMT2C G>A	7	151864301	151864301	G	A	KMT2C	c.9680C>T	NM_170606.2	NP_733751.2:p.(Pro3227Leu)	NC_000007.13:g.151864301G>A	VUS	2 labs	ec4f949bae
X:153132324 L1CAM C>T	X	153132324	153132324	C	T	L1CAM	c.2211G>A	NM_001278116.2	NP_001265045.1:p.(Pro737=)	NC_000023.10:g.153132324C>T	(Likely) benign	2 labs	ec5e641fe6
6:144508310 STX11 G>A	6	144508310	144508310	G	A	STX11	c.546G>A	NM_003764.4	NP_003755.2:p.(Glu182=)	NC_000006.11:g.144508310G>A	(Likely) benign	3 labs	ec5d4f8a9b
6:152551728 SYNE1 C>T	6	152551728	152551728	C	T	SYNE1	c.21149G>A	NM_182961.3	NP_892006.3:p.(Arg7050Gln)	NC_000006.11:g.152551728C>T	(Likely) benign	2 labs	ec654a437a
17:61571755 ACE C>A	17	61571755	61571755	C	A	ACE	c.3304C>A	NM_000789.3	NP_000780.1:p.(Pro1102Thr)	NC_000017.10:g.61571755C>A	(Likely) benign	2 labs	ec67381dd7
8:61766968 CHD7 T>C	8	61766968	61766968	T	C	CHD7				NC_000008.10:g.61766968T>C	(Likely) benign	2 labs	ec6bd9f597
11:111781109 CRYAB A>T	11	111781109	111781109	A	T	CRYAB	c.266T>A	NM_001885.2	NP_001876.1:p.(Leu89His)	NC_000011.9:g.111781109A>T	VUS	2 labs	ec7544c218
22:50656262 TUBGCP6 G>GA	22	50656262	50656263	G	GA	TUBGCP6	c.5369-7dup	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50656263dup	(Likely) benign	2 labs	ec8205c200
17:29528041 NF1 T>C	17	29528041	29528041	T	C	NF1	c.1063-14T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528041T>C	(Likely) benign	2 labs	ec8e05fdf8
1:43395354 SLC2A1 G>A	1	43395354	43395354	G	A	SLC2A1	c.777C>T	NM_006516.3	NP_006507.2:p.(Ile259=)	NC_000001.10:g.43395354G>A	(Likely) benign	2 labs	ec8dbc37af
X:70357642 MED12 C>T	X	70357642	70357642	C	T	MED12	c.5893C>T	NM_005120.3	NP_005111.2:p.(Pro1965Ser)	NC_000023.10:g.70357642C>T	VUS	2 labs	ec9535bbd9
15:65369714 KBTBD13 G>A	15	65369714	65369714	G	A	KBTBD13	c.561G>A	NM_001101362.2	NP_001094832.1:p.(Trp187Ter)	NC_000015.9:g.65369714G>A	VUS	2 labs	eca315b926
22:37492064 TMPRSS6 CA>C	22	37492064	37492065	CA	C	TMPRSS6	c.470del	NM_001374504.1	NP_001361433.1:p.(Leu157ArgfsTer37)	NC_000022.10:g.37492065del	(Likely) pathogenic	3 labs	ecad82a1a7
1:161476380 FCGR2A C>T	1	161476380	161476380	C	T	FCGR2A	c.363C>T	NM_001136219.1	NP_001129691.1:p.(Ser121=)	NC_000001.10:g.161476380C>T	(Likely) benign	2 labs	ecb4c8f0ba
20:45354973 SLC2A10 G>A	20	45354973	45354973	G	A	SLC2A10	c.1288+10G>A	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45354973G>A	(Likely) benign	3 labs	ecbaff19fd
7:92147202 PEX1 C>T	7	92147202	92147202	C	T	PEX1	c.3G>A	NM_001282678.1	NP_001269607.1:p.(Met1?)	NC_000007.13:g.92147202C>T	VUS	2 labs	ecc5068892
9:131375656 SPTAN1 C>T	9	131375656	131375656	C	T	SPTAN1	c.5044-4C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131375656C>T	(Likely) benign	3 labs	ecc7e94e82
1:196964971 CFHR5 C>T	1	196964971	196964971	C	T	CFHR5	c.732C>T	NM_030787.3	NP_110414.1:p.(Asn244=)	NC_000001.10:g.196964971C>T	(Likely) benign	3 labs	ecd5760549
20:61468571 COL9A3 T>C	20	61468571	61468571	T	C	COL9A3	c.1740T>C	NM_001853.4	NP_001844.3:p.(Pro580=)	NC_000020.10:g.61468571T>C	(Likely) benign	4 labs	ecd5807d31
11:31811484 PAX6 A>T	11	31811484	31811484	A	T	PAX6	c.859T>A	NM_001310160.1	NP_001297089.1:p.(Ter287LysextTer14)	NC_000011.9:g.31811484A>T	(Likely) benign	2 labs	ecd9f7c84f
1:152281053 FLG G>T	1	152281053	152281053	G	T	FLG	c.6309C>A	NM_002016.2	NP_002007.1:p.(Thr2103=)	NC_000001.10:g.152281053G>T	(Likely) benign	3 labs	ece1fc9cd7
11:103036743 DYNC2H1 C>G	11	103036743	103036743	C	G	DYNC2H1	c.4728C>G	NM_001080463.1	NP_001073932.1:p.(Asn1576Lys)	NC_000011.9:g.103036743C>G	(Likely) benign	4 labs	ecddaa40f7
X:67283798 OPHN1 G>A	X	67283798	67283798	G	A	OPHN1	c.2056C>T	NM_002547.2	NP_002538.1:p.(Pro686Ser)	NC_000023.10:g.67283798G>A	(Likely) benign	2 labs	ece69b70de
16:2156895 PKD1 T>A	16	2156895	2156895	T	A	PKD1	c.7120A>T	NM_001009944.2	NP_001009944.2:p.(Lys2374Ter)	NC_000016.9:g.2156895T>A	(Likely) pathogenic	2 labs	ececb1a03a
19:54387419 PRKCG C>T	19	54387419	54387419	C	T	PRKCG	c.207C>T	NM_002739.3	NP_002730.1:p.(Cys69=)	NC_000019.9:g.54387419C>T	(Likely) benign	2 labs	ecf0e81aec
9:100459439 XPA G>A	9	100459439	100459439	G	A	XPA	c.136C>T	NM_000380.3	NP_000371.1:p.(Arg46Trp)	NC_000009.11:g.100459439G>A	VUS	2 labs	ed01438b01
5:90087161 ADGRV1 C>G	5	90087161	90087161	C	G	ADGRV1	c.14515C>G	NM_032119.4	NP_115495.3:p.(Gln4839Glu)	NC_000005.9:g.90087161C>G	(Likely) benign	2 labs	ed055fe199
4:39236493 WDR19 C>T	4	39236493	39236493	C	T	WDR19	c.2361C>T	NM_025132.4	NP_079408.3:p.(Phe787=)	NC_000004.11:g.39236493C>T	(Likely) benign	4 labs	ed04a6af6d
3:170198959 SLC7A14 G>C	3	170198959	170198959	G	C	SLC7A14	c.1116-4C>G	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170198959G>C	(Likely) benign	2 labs	ed07469eac
4:114238896 ANK2 T>A	4	114238896	114238896	T	A	ANK2	c.2727T>A	NM_001148.6	NP_001139.3:p.(Thr909=)	NC_000004.11:g.114238896T>A	(Likely) benign	5 labs	ed183e427c
4:15559114 CC2D2A T>C	4	15559114	15559114	T	C	CC2D2A	c.2813T>C	NM_001080522.2	NP_001073991.2:p.(Met938Thr)	NC_000004.11:g.15559114T>C	(Likely) benign	2 labs	ed16f18f0a
6:32809947 PSMB8 G>A	6	32809947	32809947	G	A	PSMB8	c.489C>T	NM_004159.5	NP_004150.1:p.(Leu163=)	NC_000006.11:g.32809947G>A	(Likely) benign	3 labs	ed1edb2573
1:155205047 GBA1 C>T	1	155205047	155205047	C	T	GBA1	c.1444G>A	NM_001005741.2	NP_001005741.1:p.(Asp482Asn)	NC_000001.10:g.155205047C>T	(Likely) benign	2 labs	ed26c0e411
3:136019898 PCCB C>T	3	136019898	136019898	C	T	PCCB	c.971C>T	NM_001178014.1	NP_001171485.1:p.(Thr324Ile)	NC_000003.11:g.136019898C>T	VUS	2 labs	ed298e30ca
7:73457485 ELN T>C	7	73457485	73457485	T	C	ELN	c.414T>C	NM_001278939.1	NP_001265868.1:p.(Pro138=)	NC_000007.13:g.73457485T>C	(Likely) benign	2 labs	ed2ac0130e
X:128710358 OCRL G>A	X	128710358	128710358	G	A	OCRL	c.1944G>A	NM_000276.3	NP_000267.2:p.(Ser648=)	NC_000023.10:g.128710358G>A	(Likely) benign	2 labs	ed2d7cf8f2
11:93527219 MED17 T>C	11	93527219	93527219	T	C	MED17	c.859+18T>C	NM_004268.5	NP_004259.3:p.?	NC_000011.9:g.93527219T>C	(Likely) benign	2 labs	ed33d1b52f
8:61748826 CHD7 T>C	8	61748826	61748826	T	C	CHD7				NC_000008.10:g.61748826T>C	VUS	2 labs	ed34c10694
7:128494225 FLNC C>T	7	128494225	128494225	C	T	FLNC	c.6682C>T	NM_001458.4	NP_001449.3:p.(Arg2228Trp)	NC_000007.13:g.128494225C>T	VUS	2 labs	ed408293ad
7:5348503 TNRC18 T>G	7	5348503	5348503	T	G	TNRC18	c.8700+3A>C	NM_001080495.2	NP_001073964.2:p.?	NC_000007.13:g.5348503T>G	(Likely) benign	2 labs	ed4163bd15
17:29486101 NF1 G>A	17	29486101	29486101	G	A	NF1	c.278G>A	NM_000267.3	NP_000258.1:p.(Cys93Tyr)	NC_000017.10:g.29486101G>A	(Likely) pathogenic	2 labs	ed41f03f4a
16:53679538 RPGRIP1L T>C	16	53679538	53679538	T	C	RPGRIP1L	c.2682A>G	NM_015272.4	NP_056087.2:p.(Ser894=)	NC_000016.9:g.53679538T>C	(Likely) benign	2 labs	ed48e7d405
11:6662741 DCHS1 G>GCCC	11	6662741	6662746	G	GCCC	DCHS1	c.98_100dup	NM_003737.2	NP_003728.1:p.(Leu33_Gly34insVal)	NC_000011.9:g.6662744_6662746dup	(Likely) benign	2 labs	ed501e4552
14:76446949 TGFB3 G>A	14	76446949	76446949	G	A	TGFB3	c.288C>T	NM_003239.5	NP_003230.1:p.(Thr96=)	NC_000014.8:g.76446949G>A	(Likely) benign	3 labs	ed58283600
10:13168040 OPTN G>A	10	13168040	13168040	G	A	OPTN	c.1242+1G>A	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13168040G>A	(Likely) pathogenic	2 labs	ed5d7c1a91
22:22221708 MAPK1 C>CCCG	22	22221708	22221728	C	CCCG	MAPK1	c.20_22dup	NM_002745.5	NP_002736.3:p.(Ala7dup)	NC_000022.10:g.22221726_22221728dup	(Likely) benign	3 labs	ed5ad10002
1:160011280 KCNJ10 C>T	1	160011280	160011280	C	T	KCNJ10	c.1043G>A	NM_002241.4	NP_002232.2:p.(Arg348His)	NC_000001.10:g.160011280C>T	VUS	3 labs	ed6ed4b2de
11:6661723 DCHS1 T>C	11	6661723	6661723	T	C	DCHS1	c.1122A>G	NM_003737.4	NP_003728.1:p.(Gln374=)	NC_000011.9:g.6661723T>C	(Likely) benign	2 labs	ed6b4c3288
9:289557 DOCK8 G>A	9	289557	289557	G	A	DOCK8	c.380G>A	NM_203447.4	NP_982272.2:p.(Arg127His)	NC_000009.11:g.289557G>A	(Likely) benign	3 labs	ed6f7ed030
X:47433768 SYN1 C>T	X	47433768	47433768	C	T	SYN1	c.1615G>A	NM_006950.3	NP_008881.2:p.(Gly539Ser)	NC_000023.10:g.47433768C>T	(Likely) benign	2 labs	ed73733c57
X:154754245 TMLHE C>T	X	154754245	154754245	C	T	TMLHE	c.230G>A	NM_018196.4	NP_060666.1:p.(Arg77Gln)	NC_000023.10:g.154754245C>T	VUS	3 labs	ed7989bd4e
16:2125769 TSC2 G>A	16	2125769	2125769	G	A	TSC2	c.2546-31G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125769G>A	(Likely) benign	2 labs	ed785fcaa4
6:135639644 AHI1 C>T	6	135639644	135639644	C	T	AHI1	c.3426+13G>A	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135639644C>T	(Likely) benign	4 labs	ed8680b60e
10:72358355 PRF1 C>T	10	72358355	72358355	C	T	PRF1	c.1122G>A	NM_001083116.1	NP_001076585.1:p.(Trp374Ter)	NC_000010.10:g.72358355C>T	(Likely) pathogenic	2 labs	ed8694bcb4
6:65301854 EYS G>T	6	65301854	65301854	G	T	EYS	c.3906C>A	NM_001292009.2	NP_001278938.1:p.(His1302Gln)	NC_000006.11:g.65301854G>T	VUS	3 labs	ed7db414be
12:49434034 KMT2D G>T	12	49434034	49434034	G	T	KMT2D	c.7519C>A	NM_003482.4	NP_003473.3:p.(His2507Asn)	NC_000012.11:g.49434034G>T	VUS	2 labs	ed8ec0d5c5
11:120998747 TECTA C>G	11	120998747	120998747	C	G	TECTA	c.2061C>G	NM_005422.4	NP_005413.2:p.(Asn687Lys)	NC_000011.9:g.120998747C>G	(Likely) benign	3 labs	ed906db13e
5:176715806 NSD1 G>A	5	176715806	176715806	G	A	NSD1	c.6152-14G>A	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176715806G>A	VUS	2 labs	ed91c075b3
5:137222978 MYOT T>C	5	137222978	137222978	T	C	MYOT	c.1401T>C	NM_006790.2	NP_006781.1:p.(Asn467=)	NC_000005.9:g.137222978T>C	(Likely) benign	2 labs	eda1fddbcb
5:56178217 MAP3K1 A>C	5	56178217	56178217	A	C	MAP3K1	c.3190A>C	NM_005921.2	NP_005912.1:p.(Arg1064=)	NC_000005.9:g.56178217A>C	(Likely) benign	2 labs	edb7714593
5:127626520 FBN2 T>C	5	127626520	127626520	T	C	FBN2	c.6349A>G	NM_001999.3	NP_001990.2:p.(Lys2117Glu)	NC_000005.9:g.127626520T>C	VUS	2 labs	edb2653bdd
2:238283646 COL6A3 C>T	2	238283646	238283646	C	T	COL6A3	c.3088G>A	NM_004369.3	NP_004360.2:p.(Val1030Met)	NC_000002.11:g.238283646C>T	VUS	2 labs	edb728b2b6
2:228121053 COL4A3 C>A	2	228121053	228121053	C	A	COL4A3	c.934-6C>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228121053C>A	(Likely) benign	3 labs	edba412afc
19:34003600 PEPD G>A	19	34003600	34003600	G	A	PEPD	c.100C>T	NM_000285.4	NP_000276.2:p.(Leu34=)	NC_000019.9:g.34003600G>A	(Likely) benign	3 labs	edafe7adf7
1:16458722 EPHA2 C>T	1	16458722	16458722	C	T	EPHA2	c.2162G>A	NM_004431.4	NP_004422.2:p.(Arg721Gln)	NC_000001.10:g.16458722C>T	VUS	2 labs	edbcb0b7c6
10:112583218 RBM20 C>T	10	112583218	112583218	C	T	RBM20	c.3317-20C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583218C>T	(Likely) benign	4 labs	edc0b569a6
5:112154909 APC C>T	5	112154909	112154909	C	T	APC				NC_000005.9:g.112154909C>T	(Likely) pathogenic	2 labs	edca829015
7:4827887 AP5Z1 A>G	7	4827887	4827887	A	G	AP5Z1	c.1557A>G	NM_014855.3	NP_055670.1:p.(Gln519=)	NC_000007.13:g.4827887A>G	(Likely) benign	2 labs	edd09f60aa
1:152277014 FLG A>G	1	152277014	152277014	A	G	FLG	c.10348T>C	NM_002016.1	NP_002007.1:p.(Tyr3450His)	NC_000001.10:g.152277014A>G	(Likely) benign	2 labs	edd2d0fa7f
8:144999979 PLEC C>T	8	144999979	144999979	C	T	PLEC	c.4199G>A	NM_000445.5	NP_000436.2:p.(Arg1400Gln)	NC_000008.10:g.144999979C>T	VUS	2 labs	edd8885a3f
17:8141519 CTC1 C>A	17	8141519	8141519	C	A	CTC1	c.477G>T	NM_025099.6	NP_079375.3:p.(Leu159=)	NC_000017.10:g.8141519C>A	(Likely) benign	2 labs	ede4b06407
2:241658469 KIF1A G>A	2	241658469	241658469	G	A	KIF1A	c.5168C>T	NM_001244008.1	NP_001230937.1:p.(Ala1723Val)	NC_000002.11:g.241658469G>A	(Likely) benign	2 labs	ede6c2b237
9:139409754 NOTCH1 G>C	9	139409754	139409754	G	C	NOTCH1	c.2002C>G	NM_017617.5	NP_060087.3:p.(Pro668Ala)	NC_000009.11:g.139409754G>C	VUS	2 labs	edfd0737ac
11:124757700 ROBO4 C>T	11	124757700	124757700	C	T	ROBO4	c.1985G>A	NM_019055.5	NP_061928.4:p.(Gly662Asp)	NC_000011.9:g.124757700C>T	(Likely) benign	2 labs	ee00712d79
1:216143987 USH2A C>A	1	216143987	216143987	C	A	USH2A	c.6937G>T	NM_206933.2	NP_996816.2:p.(Gly2313Cys)	NC_000001.10:g.216143987C>A	(Likely) pathogenic	2 labs	ee0106d1d1
4:41748178 PHOX2B G>C	4	41748178	41748178	G	C	PHOX2B	c.591C>G	NM_003924.4	NP_003915.2:p.(Gly197=)	NC_000004.11:g.41748178G>C	(Likely) benign	3 labs	ee0a636b50
16:29394276 NPIPB11 C>T	16	29394276	29394276	C	T	NPIPB11	c.1977G>A	NM_001310137.2	NP_001297066.1:p.(Gln659=)	NC_000016.9:g.29394276C>T	(Likely) benign	2 labs	ee0cf53dd7
2:149850936 KIF5C A>G	2	149850936	149850936	A	G	KIF5C	c.1907A>G	NM_004522.3	NP_004513.1:p.(His636Arg)	NC_000002.11:g.149850936A>G	VUS	2 labs	ee27bf75e0
5:112175426 APC G>T	5	112175426	112175426	G	T	APC				NC_000005.9:g.112175426G>T	(Likely) pathogenic	2 labs	ee2d8fca9b
8:145738595 RECQL4 G>A	8	145738595	145738595	G	A	RECQL4	c.2463+6C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738595G>A	(Likely) benign	2 labs	ee3f67cf54
17:70119713 SOX9 A>C	17	70119713	70119713	A	C	SOX9	c.715A>C	NM_000346.3	NP_000337.1:p.(Thr239Pro)	NC_000017.10:g.70119713A>C	(Likely) benign	2 labs	ee54692d9c
3:193361787 OPA1 A>T	3	193361787	193361787	A	T	OPA1	c.1501A>T	NM_130837.2	NP_570850.2:p.(Ser501Cys)	NC_000003.11:g.193361787A>T	VUS	2 labs	ee57298714
9:139333249 INPP5E G>A	9	139333249	139333249	G	A	INPP5E	c.623C>T	NM_019892.5	NP_063945.2:p.(Thr208Ile)	NC_000009.11:g.139333249G>A	(Likely) benign	2 labs	ee5e89465c
7:100853612 PLOD3 G>A	7	100853612	100853612	G	A	PLOD3	c.1614C>T	NM_001084.4	NP_001075.1:p.(Val538=)	NC_000007.13:g.100853612G>A	(Likely) benign	2 labs	ee5ec66f51
2:179574393 TTN C>G	2	179574393	179574393	C	G	TTN	c.28653G>C	NM_001267550.2	NP_001254479.2:p.(Leu9551=)	NC_000002.11:g.179574393C>G	(Likely) benign	2 labs	ee56aaaf96
20:35555660 SAMHD1 A>G	20	35555660	35555660	A	G	SAMHD1	c.626-5T>C	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35555660A>G	(Likely) benign	2 labs	ee64186a84
X:77244108 ATP7A G>A	X	77244108	77244108	G	A	ATP7A	c.491G>A	NM_000052.6	NP_000043.4:p.(Ser164Asn)	NC_000023.10:g.77244108G>A	(Likely) benign	2 labs	ee6fa2b62b
15:85401671 ALPK3 G>A	15	85401671	85401671	G	A	ALPK3	c.3702G>A	NM_020778.5	NP_065829.4:p.(Ala1234=)	NC_000015.9:g.85401671G>A	(Likely) benign	2 labs	ee6abf0dfa
16:74808452 FA2H T>C	16	74808452	74808452	T	C	FA2H	c.202A>G	NM_024306.4	NP_077282.3:p.(Arg68Gly)	NC_000016.9:g.74808452T>C	VUS	2 labs	ee751341f0
20:31380545 DNMT3B C>T	20	31380545	31380545	C	T	DNMT3B	c.1035C>T	NM_006892.3	NP_008823.1:p.(Ile345=)	NC_000020.10:g.31380545C>T	(Likely) benign	2 labs	ee77414bdb
5:37044446 NIPBL T>C	5	37044446	37044446	T	C	NIPBL	c.6109-3T>C	NM_015384.5	NP_056199.2:p.?	NC_000005.9:g.37044446T>C	(Likely) benign	3 labs	ee83df9156
2:179510638 TTN AT>A	2	179510638	179510644	AT	A	TTN	c.40408+8del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179510644del	(Likely) benign	3 labs	ee80cf95ad
14:105241422 AKT1 G>A	14	105241422	105241422	G	A	AKT1	c.558C>T	NM_001014431.2	NP_001014431.1:p.(Ile186=)	NC_000014.8:g.105241422G>A	(Likely) benign	2 labs	ee819135b8
16:81892718 PLCG2 C>T	16	81892718	81892718	C	T	PLCG2	c.432-3C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81892718C>T	(Likely) benign	2 labs	ee9381e8f3
19:6707265 C3 C>T	19	6707265	6707265	C	T	C3	c.2067G>A	NM_000064.2	NP_000055.2:p.(Glu689=)	NC_000019.9:g.6707265C>T	(Likely) benign	3 labs	ee9474485e
1:152276690 FLG A>G	1	152276690	152276690	A	G	FLG	c.10672T>C	NM_002016.1	NP_002007.1:p.(Ser3558Pro)	NC_000001.10:g.152276690A>G	(Likely) benign	2 labs	ee97889024
1:3746432 CEP104 G>A	1	3746432	3746432	G	A	CEP104	c.1966C>T	NM_014704.4	NP_055519.1:p.(Arg656Cys)	NC_000001.10:g.3746432G>A	(Likely) benign	4 labs	ee9cfb9670
X:66765624 AR G>A	X	66765624	66765624	G	A	AR	c.636G>A	NM_000044.4	NP_000035.2:p.(Arg212=)	NC_000023.10:g.66765624G>A	(Likely) benign	2 labs	ee9c137f6f
7:117267591 CFTR C>T	7	117267591	117267591	C	T	CFTR	c.3484C>T	NM_000492.4	NP_000483.3:p.(Arg1162Ter)	NC_000007.13:g.117267591C>T	(Likely) pathogenic	3 labs	eea6e83296
8:61750718 CHD7 G>A	8	61750718	61750718	G	A	CHD7				NC_000008.10:g.61750718G>A	(Likely) benign	2 labs	ee9f296104
1:43913221 SZT2 T>C	1	43913221	43913221	T	C	SZT2	c.9121T>C	NM_015284.4	NP_056099.3:p.(Leu3041=)	NC_000001.10:g.43913221T>C	(Likely) benign	2 labs	ee9ef2a350
7:103338537 RELN G>A	7	103338537	103338537	G	A	RELN	c.906C>T	NM_005045.3	NP_005036.2:p.(Ala302=)	NC_000007.13:g.103338537G>A	(Likely) benign	2 labs	eeadb84e31
7:140487384 BRAF C>T	7	140487384	140487384	C	T	BRAF	c.1141G>A	NM_001354609.1	NP_001341538.1:p.(Asp381Asn)	NC_000007.13:g.140487384C>T	VUS	2 labs	eec4b5a16f
14:51224261 NIN C>G	14	51224261	51224261	C	G	NIN	c.3487G>C	NM_020921.3	NP_065972.3:p.(Val1163Leu)	NC_000014.8:g.51224261C>G	(Likely) benign	2 labs	eec6652597
19:42402581 ARHGEF1 C>A	19	42402581	42402581	C	A	ARHGEF1	c.1167-10C>A	NM_199002.1	NP_945353.1:p.?	NC_000019.9:g.42402581C>A	(Likely) benign	2 labs	eeda6dd980
16:2160098 PKD1 G>A	16	2160098	2160098	G	A	PKD1	c.5070C>T	NM_001009944.2	NP_001009944.2:p.(Ala1690=)	NC_000016.9:g.2160098G>A	(Likely) benign	3 labs	eedde2ffb4
15:77329417 PSTPIP1 A>G	15	77329417	77329417	A	G	PSTPIP1	c.1124A>G	NM_001321136.1	NP_001308065.1:p.(Asp375Gly)	NC_000015.9:g.77329417A>G	(Likely) benign	2 labs	eee0d93612
14:76368529 TTLL5 T>C	14	76368529	76368529	T	C	TTLL5	c.3785T>C	NM_015072.5	NP_055887.3:p.(Leu1262Pro)	NC_000014.8:g.76368529T>C	VUS	2 labs	eedd9a6c81
4:5733317 EVC G>A	4	5733317	5733317	G	A	EVC	c.550G>A	NM_153717.3	NP_714928.1:p.(Asp184Asn)	NC_000004.11:g.5733317G>A	(Likely) benign	4 labs	eef54d289e
6:152615118 SYNE1 A>G	6	152615118	152615118	A	G	SYNE1	c.17614T>C	NM_033071.4	NP_149062.2:p.(Ser5872Pro)	NC_000006.11:g.152615118A>G	VUS	2 labs	eef8f2eb8f
7:99703582 AP4M1 G>A	7	99703582	99703582	G	A	AP4M1	c.930G>A	NM_004722.3	NP_004713.2:p.(Arg310=)	NC_000007.13:g.99703582G>A	(Likely) benign	2 labs	eef8c028d3
16:47545670 PHKB A>G	16	47545670	47545670	A	G	PHKB	c.479A>G	NM_001031835.2	NP_001027005.1:p.(Tyr160Cys)	NC_000016.9:g.47545670A>G	(Likely) benign	2 labs	ef00fe28e1
10:61833684 ANK3 C>T	10	61833684	61833684	C	T	ANK3	c.6955G>A	NM_020987.5	NP_066267.2:p.(Asp2319Asn)	NC_000010.10:g.61833684C>T	(Likely) benign	2 labs	ef0625967c
14:23887645 MYH7 T>C	14	23887645	23887645	T	C	MYH7	c.3973-30A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23887645T>C	(Likely) benign	2 labs	ef06dcd1ac
1:74797154 TNNI3K A>G	1	74797154	74797154	A	G	TNNI3K	c.465A>G	NM_015978.2	NP_057062.1:p.(Gln155=)	NC_000001.10:g.74797154A>G	(Likely) benign	2 labs	ef0a9d945f
9:123220829 CDK5RAP2 A>G	9	123220829	123220829	A	G	CDK5RAP2	c.2274T>C	NM_018249.6	NP_060719.4:p.(Asp758=)	NC_000009.11:g.123220829A>G	(Likely) benign	3 labs	ef0fc644c0
5:149755751 TCOF1 G>A	5	149755751	149755751	G	A	TCOF1	c.2000G>A	NM_001135243.1	NP_001128715.1:p.(Arg667Gln)	NC_000005.9:g.149755751G>A	(Likely) benign	2 labs	ef177cd69d
1:152284773 FLG C>G	1	152284773	152284773	C	G	FLG	c.2589G>C	NM_002016.1	NP_002007.1:p.(Arg863Ser)	NC_000001.10:g.152284773C>G	(Likely) benign	2 labs	ef189af019
16:56913140 SLC12A3 G>A	16	56913140	56913140	G	A	SLC12A3	c.1335+1G>A	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56913140G>A	(Likely) pathogenic	2 labs	ef193b22ba
4:79158715 FRAS1 G>C	4	79158715	79158715	G	C	FRAS1	c.160G>C	NM_025074.7	NP_079350.5:p.(Asp54His)	NC_000004.11:g.79158715G>C	(Likely) benign	2 labs	ef1ab4a2be
X:84569510 POF1B C>T	X	84569510	84569510	C	T	POF1B	c.885G>A	NM_024921.3	NP_079197.3:p.(Ser295=)	NC_000023.10:g.84569510C>T	(Likely) benign	2 labs	ef1b837124
8:61764609 CHD7 C>G	8	61764609	61764609	C	G	CHD7				NC_000008.10:g.61764609C>G	(Likely) benign	2 labs	ef63a63c2d
2:179452324 TTN G>A	2	179452324	179452324	G	A	TTN	c.63712C>T	NM_001267550.1	NP_001254479.1:p.(Arg21238Cys)	NC_000002.11:g.179452324G>A	VUS	2 labs	ef1fc4e855
16:162721 NPRL3 G>A	16	162721	162721	G	A	NPRL3	c.372C>T	NM_001243248.1	NP_001230177.1:p.(Ile124=)	NC_000016.9:g.162721G>A	(Likely) benign	2 labs	ef2592ca5f
13:32913512 BRCA2 A>G	13	32913512	32913512	A	G	BRCA2	c.5020A>G	NM_000059.3	NP_000050.2:p.(Ser1674Gly)	NC_000013.10:g.32913512A>G	(Likely) benign	2 labs	ef32e84478
16:3778363 CREBBP C>T	16	3778363	3778363	C	T	CREBBP	c.6685G>A	NM_004380.2	NP_004371.2:p.(Gly2229Ser)	NC_000016.9:g.3778363C>T	(Likely) benign	2 labs	ef32ecf55d
X:7811927 VCX T>C	X	7811927	7811927	T	C	VCX	c.491T>C	NM_013452.2	NP_038480.2:p.(Leu164Pro)	NC_000023.10:g.7811927T>C	VUS	2 labs	ef3dac5990
9:75387453 TMC1 T>TAA	9	75387453	75387454	T	TAA	TMC1	c.866_867insAA	NM_138691.2	NP_619636.2:p.(Phe289LeufsTer9)	NC_000009.11:g.75387453_75387454insAA	(Likely) pathogenic	2 labs	ef45ee7cba
17:18044343 MYO15A T>C	17	18044343	18044343	T	C	MYO15A	c.5417T>C	NM_016239.3	NP_057323.3:p.(Leu1806Pro)	NC_000017.10:g.18044343T>C	(Likely) pathogenic	2 labs	ef46b08c37
22:29726395 AP1B1 C>T	22	29726395	29726395	C	T	AP1B1	c.2738G>A	NM_001127.3	NP_001118.3:p.(Arg913Gln)	NC_000022.10:g.29726395C>T	VUS	2 labs	ef4e737dc2
6:41884544 MED20 C>A	6	41884544	41884544	C	A	MED20	c.148G>T	NM_004275.4	NP_004266.2:p.(Ala50Ser)	NC_000006.11:g.41884544C>A	(Likely) benign	2 labs	ef50e30ce3
X:64708833 ZC3H12B T>C	X	64708833	64708833	T	C	ZC3H12B	c.152T>C	NM_001010888.3	NP_001010888.3:p.(Leu51Pro)	NC_000023.10:g.64708833T>C	(Likely) benign	2 labs	ef5b52fe81
2:47641560 MSH2 A>T	2	47641560	47641560	A	T	MSH2	c.942+3A>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641560A>T	(Likely) pathogenic	3 labs	ef5e2813f9
12:21325709 SLCO1B1 C>T	12	21325709	21325709	C	T	SLCO1B1	c.210C>T	NM_006446.5	NP_006437.3:p.(Asp70=)	NC_000012.11:g.21325709C>T	(Likely) benign	2 labs	ef5ba0a2a5
12:52080965 SCN8A C>T	12	52080965	52080965	C	T	SCN8A	c.576C>T	NM_014191.4	NP_055006.1:p.(Asp192=)	NC_000012.11:g.52080965C>T	(Likely) benign	3 labs	ef6c514aeb
10:67748543 CTNNA3 T>G	10	67748543	67748543	T	G	CTNNA3	c.2172A>C	NM_013266.4	NP_037398.2:p.(Pro724=)	NC_000010.10:g.67748543T>G	(Likely) benign	2 labs	ef6b66cfcf
17:19575117 ALDH3A2 AAG>A	17	19575117	19575124	AAG	A	ALDH3A2	c.1297_1298del	NM_000382.3	NP_000373.1:p.(Glu433ArgfsTer3)	NC_000017.10:g.19575123_19575124del	(Likely) pathogenic	4 labs	ef70568bc8
3:186940968 MASP1 C>A	3	186940968	186940968	C	A	MASP1	c.1756G>T	NM_001879.5	NP_001870.3:p.(Val586Phe)	NC_000003.11:g.186940968C>A	VUS	2 labs	ef75806722
11:121016276 TECTA C>T	11	121016276	121016276	C	T	TECTA	c.3556C>T	NM_005422.2	NP_005413.2:p.(Arg1186Trp)	NC_000011.9:g.121016276C>T	VUS	2 labs	ef8314d67e
2:3691324 COLEC11 C>T	2	3691324	3691324	C	T	COLEC11	c.423C>T	NM_199235.2	NP_954705.1:p.(Ala141=)	NC_000002.11:g.3691324C>T	(Likely) benign	3 labs	ef86222a33
12:48380211 COL2A1 G>A	12	48380211	48380211	G	A	COL2A1	c.1435C>T	NM_001844.4	NP_001835.3:p.(Gln479Ter)	NC_000012.11:g.48380211G>A	(Likely) pathogenic	2 labs	ef8a2fe0b6
21:46131386 TSPEAR G>A	21	46131386	46131386	G	A	TSPEAR	c.44C>T	NM_144991.2	NP_659428.2:p.(Ala15Val)	NC_000021.8:g.46131386G>A	(Likely) benign	2 labs	ef9a6352cf
4:661655 PDE6B G>A	4	661655	661655	G	A	PDE6B	c.2363G>A	NM_000283.3	NP_000274.2:p.(Arg788His)	NC_000004.11:g.661655G>A	VUS	2 labs	ef9ab85992
10:75830567 VCL G>A	10	75830567	75830567	G	A	VCL	c.379G>A	NM_014000.3	NP_054706.1:p.(Asp127Asn)	NC_000010.10:g.75830567G>A	VUS	3 labs	efa336b02f
20:45362395 SLC2A10 G>T	20	45362395	45362395	G	T	SLC2A10	c.1548G>T	NM_030777.3	NP_110404.1:p.(Arg516=)	NC_000020.10:g.45362395G>T	(Likely) benign	2 labs	efa3652dc3
19:17945708 JAK3 C>G	19	17945708	17945708	C	G	JAK3	c.2152G>C	NM_000215.3	NP_000206.2:p.(Val718Leu)	NC_000019.9:g.17945708C>G	(Likely) benign	2 labs	efb77b9cdb
8:61734402 CHD7 G>A	8	61734402	61734402	G	A	CHD7				NC_000008.10:g.61734402G>A	(Likely) benign	3 labs	efbb2bb793
19:6707877 C3 C>G	19	6707877	6707877	C	G	C3	c.1909G>C	NM_000064.2	NP_000055.2:p.(Gly637Arg)	NC_000019.9:g.6707877C>G	VUS	2 labs	efbfb63421
6:108197874 SEC63 C>CAAA	6	108197874	108197893	C	CAAA	SEC63	c.1936-11_1936-9dup	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108197891_108197893dup	(Likely) benign	2 labs	efc1038f63
12:88462336 CEP290 T>C	12	88462336	88462336	T	C	CEP290	c.6098A>G	NM_025114.3	NP_079390.3:p.(Glu2033Gly)	NC_000012.11:g.88462336T>C	VUS	2 labs	efcaa5257c
11:103029690 DYNC2H1 T>C	11	103029690	103029690	T	C	DYNC2H1	c.4312T>C	NM_001080463.1	NP_001073932.1:p.(Leu1438=)	NC_000011.9:g.103029690T>C	(Likely) benign	2 labs	efd4f49cf2
17:42635805 FZD2 C>T	17	42635805	42635805	C	T	FZD2	c.749C>T	NM_001466.3	NP_001457.1:p.(Thr250Ile)	NC_000017.10:g.42635805C>T	(Likely) benign	2 labs	efe563c886
17:29533257 NF1 G>A	17	29533257	29533257	G	A	NF1	c.1261-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533257G>A	(Likely) pathogenic	2 labs	eff453db7e
14:105411989 AHNAK2 C>T	14	105411989	105411989	C	T	AHNAK2	c.9799G>A	NM_138420.3	NP_612429.2:p.(Val3267Met)	NC_000014.8:g.105411989C>T	(Likely) benign	2 labs	eff4ffc7a2
7:153750131 DPP6 G>A	7	153750131	153750131	G	A	DPP6	c.226G>A	NM_130797.4	NP_570629.2:p.(Asp76Asn)	NC_000007.13:g.153750131G>A	(Likely) benign	2 labs	efff5c4751
X:110555907 DCX G>C	X	110555907	110555907	G	C	DCX	c.1232C>G	NM_000555.3	NP_000546.2:p.(Ser411Cys)	NC_000023.10:g.110555907G>C	VUS	2 labs	f00414d6b6
17:41215396 BRCA1 G>T	17	41215396	41215396	G	T	BRCA1	c.5153-6C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215396G>T	(Likely) benign	2 labs	f009b0896d
11:108139221 ATM T>C	11	108139221	108139221	T	C	ATM	c.2723T>C	NM_000051.3	NP_000042.3:p.(Val908Ala)	NC_000011.9:g.108139221T>C	(Likely) benign	2 labs	f01315f37d
X:66937442 AR G>A	X	66937442	66937442	G	A	AR	c.2296G>A	NM_000044.6	NP_000035.2:p.(Ala766Thr)	NC_000023.10:g.66937442G>A	(Likely) pathogenic	2 labs	f016e95909
6:51656129 PKHD1 C>G	6	51656129	51656129	C	G	PKHD1	c.8345G>C	NM_138694.4	NP_619639.3:p.(Gly2782Ala)	NC_000006.11:g.51656129C>G	(Likely) benign	4 labs	f021b0ad1c
11:44129666 EXT2 T>C	11	44129666	44129666	T	C	EXT2	c.404T>C	NM_001178083.1	NP_001171554.1:p.(Met135Thr)	NC_000011.9:g.44129666T>C	(Likely) benign	2 labs	f024448da6
20:31017209 ASXL1 C>T	20	31017209	31017209	C	T	ASXL1	c.540C>T	NM_015338.5	NP_056153.2:p.(Asn180=)	NC_000020.10:g.31017209C>T	(Likely) benign	2 labs	f02eece6ab
4:123664457 BBS12 C>T	4	123664457	123664457	C	T	BBS12	c.1410C>T	NM_001178007.2	NP_001171478.1:p.(Cys470=)	NC_000004.11:g.123664457C>T	(Likely) benign	3 labs	f031770b45
4:158073956 GLRB G>T	4	158073956	158073956	G	T	GLRB	c.991G>T	NM_000824.4	NP_000815.1:p.(Val331Phe)	NC_000004.11:g.158073956G>T	VUS	2 labs	f03feafb31
6:118881522 PLN G>A	6	118881522	118881522	G	A	PLN	c.*1279G>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118881522G>A	(Likely) benign	2 labs	f040566537
14:23883054 MYH7 C>G	14	23883054	23883054	C	G	MYH7	c.5704G>C	NM_000257.2	NP_000248.2:p.(Glu1902Gln)	NC_000014.8:g.23883054C>G	VUS	2 labs	f06c34cbb2
2:202606507 ALS2 G>A	2	202606507	202606507	G	A	ALS2	c.2241C>T	NM_020919.4	NP_065970.2:p.(Tyr747=)	NC_000002.11:g.202606507G>A	(Likely) benign	3 labs	f07c0e448d
2:179574402 TTN C>T	2	179574402	179574402	C	T	TTN	c.28644G>A	NM_001267550.2	NP_001254479.2:p.(Thr9548=)	NC_000002.11:g.179574402C>T	(Likely) benign	2 labs	f07e563631
11:47353637 MYBPC3 C>T	11	47353637	47353637	C	T	MYBPC3	c.3800G>A	NM_000256.3	NP_000247.2:p.(Arg1267His)	NC_000011.9:g.47353637C>T	VUS	3 labs	f07e6a7af9
19:2130540 AP3D1 C>T	19	2130540	2130540	C	T	AP3D1	c.463-4G>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2130540C>T	(Likely) benign	2 labs	f0818e45d8
X:151138777 GABRE C>T	X	151138777	151138777	C	T	GABRE	c.154G>A	NM_004961.3	NP_004952.2:p.(Glu52Lys)	NC_000023.10:g.151138777C>T	(Likely) benign	2 labs	f084ef2ced
10:14951202 DCLRE1C T>G	10	14951202	14951202	T	G	DCLRE1C	c.924A>C	NM_001289079.1	NP_001276008.1:p.(Lys308Asn)	NC_000010.10:g.14951202T>G	(Likely) benign	2 labs	f09a1f5820
12:9075387 PHC1 T>A	12	9075387	9075387	T	A	PHC1	c.612+3T>A	NM_004426.2	NP_004417.2:p.?	NC_000012.11:g.9075387T>A	(Likely) benign	2 labs	f0a5077296
22:30067938 NF2 G>A	22	30067938	30067938	G	A	NF2	c.1122+1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30067938G>A	(Likely) pathogenic	2 labs	f0aa96a27c
13:39265512 FREM2 G>A	13	39265512	39265512	G	A	FREM2	c.4031G>A	NM_207361.5	NP_997244.4:p.(Arg1344His)	NC_000013.10:g.39265512G>A	(Likely) benign	3 labs	f0ac6bf461
9:2635545 VLDLR G>A	9	2635545	2635545	G	A	VLDLR	c.175G>A	NM_003383.4	NP_003374.3:p.(Val59Ile)	NC_000009.11:g.2635545G>A	(Likely) benign	2 labs	f0aebeae00
17:29553477 NF1 AC>A	17	29553477	29553484	AC	A	NF1	c.2033del	NM_001042492.3	NP_001035957.1:p.(Pro678ArgfsTer10)	NC_000017.10:g.29553484del	(Likely) pathogenic	2 labs	f0b04cc0de
22:36682873 MYH9 A>G	22	36682873	36682873	A	G	MYH9	c.4952T>C	NM_002473.5	NP_002464.1:p.(Met1651Thr)	NC_000022.10:g.36682873A>G	(Likely) benign	4 labs	f0c2f7ff07
1:9784916 PIK3CD C>T	1	9784916	9784916	C	T	PIK3CD	c.2919C>T	NM_005026.3	NP_005017.3:p.(Leu973=)	NC_000001.10:g.9784916C>T	(Likely) benign	2 labs	f0c57a7a6e
16:1252274 CACNA1H G>A	16	1252274	1252274	G	A	CACNA1H	c.1824G>A	NM_021098.2	NP_066921.2:p.(Leu608=)	NC_000016.9:g.1252274G>A	(Likely) benign	2 labs	f0d5772de0
2:217311886 SMARCAL1 G>A	2	217311886	217311886	G	A	SMARCAL1	c.1851+5G>A	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217311886G>A	VUS	3 labs	f0d785712d
7:103244816 RELN G>A	7	103244816	103244816	G	A	RELN	c.3123C>T	NM_005045.3	NP_005036.2:p.(Gly1041=)	NC_000007.13:g.103244816G>A	(Likely) benign	2 labs	f0d84cc695
15:43695882 TUBGCP4 T>C	15	43695882	43695882	T	C	TUBGCP4	c.1736T>C	NM_001286414.2	NP_001273343.1:p.(Val579Ala)	NC_000015.9:g.43695882T>C	VUS	2 labs	f0daf20c90
5:138860866 STING1 C>T	5	138860866	138860866	C	T	STING1	c.289G>A	NM_198282.4	NP_938023.1:p.(Ala97Thr)	NC_000005.9:g.138860866C>T	(Likely) benign	2 labs	f0de7738bf
13:32918771 BRCA2 T>C	13	32918771	32918771	T	C	BRCA2	c.6918T>C	NM_000059.3	NP_000050.2:p.(Ala2306=)	NC_000013.10:g.32918771T>C	(Likely) benign	3 labs	f0dfc6cf7e
15:73660115 HCN4 G>A	15	73660115	73660115	G	A	HCN4	c.497C>T	NM_005477.3	NP_005468.1:p.(Pro166Leu)	NC_000015.9:g.73660115G>A	VUS	2 labs	f0daeeb973
12:88502935 CEP290 CT>C	12	88502935	88502942	CT	C	CEP290	c.2390del	NM_025114.4	NP_079390.3:p.(Lys797SerfsTer2)	NC_000012.11:g.88502942del	(Likely) pathogenic	3 labs	f0e0b37cfe
8:48694998 PRKDC G>A	8	48694998	48694998	G	A	PRKDC	c.11337C>T	NM_006904.6	NP_008835.5:p.(Ser3779=)	NC_000008.10:g.48694998G>A	(Likely) benign	2 labs	f0e1c7d37f
19:1220584 STK11 T>TGC	19	1220584	1220586	T	TGC	STK11	c.603_604dup	NM_000455.5	NP_000446.1:p.(His202ArgfsTer86)	NC_000019.9:g.1220585_1220586dup	(Likely) pathogenic	2 labs	f0e311ff4f
4:2833665 SH3BP2 T>C	4	2833665	2833665	T	C	SH3BP2	c.1450T>C	NM_001145855.2	NP_001139327.1:p.(Ser484Pro)	NC_000004.11:g.2833665T>C	(Likely) benign	3 labs	f0e9a2eb32
4:1807915 FGFR3 G>C	4	1807915	1807915	G	C	FGFR3	c.1959+15G>C	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807915G>C	(Likely) benign	2 labs	f0ed9d2c8a
18:29126376 DSG2 A>G	18	29126376	29126376	A	G	DSG2	c.3027A>G	NM_001943.5	NP_001934.2:p.(Gln1009=)	NC_000018.9:g.29126376A>G	(Likely) benign	3 labs	f0f94fc3c1
1:115284141 CSDE1 G>A	1	115284141	115284141	G	A	CSDE1	c.138+7C>T	NM_001242891.1	NP_001229820.1:p.?	NC_000001.10:g.115284141G>A	(Likely) benign	2 labs	f0fe92b8d1
6:65301217 EYS G>A	6	65301217	65301217	G	A	EYS	c.4543C>T	NM_001142800.1	NP_001136272.1:p.(Arg1515Trp)	NC_000006.11:g.65301217G>A	(Likely) benign	2 labs	f102e5f00c
11:103027118 DYNC2H1 A>T	11	103027118	103027118	A	T	DYNC2H1	c.3746A>T	NM_001080463.1	NP_001073932.1:p.(Asp1249Val)	NC_000011.9:g.103027118A>T	VUS	2 labs	f103fd2b85
19:5696093 LONP1 A>C	19	5696093	5696093	A	C	LONP1	c.1985T>G	NM_004793.3	NP_004784.2:p.(Val662Gly)	NC_000019.9:g.5696093A>C	VUS	2 labs	f106e69e9e
18:32400815 DTNA C>T	18	32400815	32400815	C	T	DTNA	c.937C>T	NM_001198939.2	NP_001185868.1:p.(Arg313Cys)	NC_000018.9:g.32400815C>T	VUS	2 labs	f10f0f5efb
5:140953563 DIAPH1 T>TGGAGGA	5	140953563	140953597	T	TGGAGGA	DIAPH1	c.1848_1853dup	NM_005219.5	NP_005210.3:p.(Pro619_Pro620dup)	NC_000005.9:g.140953592_140953597dup	(Likely) benign	2 labs	f11780563b
5:112176565 APC T>A	5	112176565	112176565	T	A	APC				NC_000005.9:g.112176565T>A	(Likely) benign	2 labs	f1340f058c
11:108224599 ATM C>T	11	108224599	108224599	C	T	ATM	c.8778C>T	NM_000051.3	NP_000042.3:p.(Val2926=)	NC_000011.9:g.108224599C>T	(Likely) benign	3 labs	f137c9f3c7
6:33137838 COL11A2 G>A	6	33137838	33137838	G	A	COL11A2	c.3622C>T	NM_080680.2	NP_542411.2:p.(Pro1208Ser)	NC_000006.11:g.33137838G>A	VUS	2 labs	f13912b16d
3:41266471 CTNNB1 C>T	3	41266471	41266471	C	T	CTNNB1	c.268C>T	NM_001904.3	NP_001895.1:p.(Arg90Ter)	NC_000003.11:g.41266471C>T	(Likely) pathogenic	2 labs	f139ce2109
20:62320968 RTEL1 T>C	20	62320968	62320968	T	C	RTEL1	c.1992T>C	NM_001283009.1	NP_001269938.1:p.(Asp664=)	NC_000020.10:g.62320968T>C	(Likely) benign	2 labs	f14fb6d340
6:7585763 DSP A>C	6	7585763	7585763	A	C	DSP	c.8268A>C	NM_004415.4	NP_004406.2:p.(Ile2756=)	NC_000006.11:g.7585763A>C	(Likely) benign	2 labs	f14a1f9b41
16:31474091 ARMC5 A>G	16	31474091	31474091	A	G	ARMC5	c.1223A>G	NM_024742.2	NP_079018.1:p.(Gln408Arg)	NC_000016.9:g.31474091A>G	(Likely) benign	2 labs	f155f6d122
17:40491395 STAT3 G>A	17	40491395	40491395	G	A	STAT3	c.405C>T	NM_139276.2	NP_644805.1:p.(Ala135=)	NC_000017.10:g.40491395G>A	(Likely) benign	2 labs	f158c995b1
1:183536358 NCF2 G>A	1	183536358	183536358	G	A	NCF2	c.836C>T	NM_000433.3	NP_000424.2:p.(Thr279Met)	NC_000001.10:g.183536358G>A	(Likely) benign	2 labs	f1626b755f
16:3779278 CREBBP C>T	16	3779278	3779278	C	T	CREBBP	c.5770G>A	NM_004380.2	NP_004371.2:p.(Val1924Met)	NC_000016.9:g.3779278C>T	(Likely) benign	3 labs	f18cadb503
11:44289071 ALX4 G>A	11	44289071	44289071	G	A	ALX4	c.879C>T	NM_021926.4	NP_068745.2:p.(Leu293=)	NC_000011.9:g.44289071G>A	(Likely) benign	2 labs	f190e04827
1:152284558 FLG C>G	1	152284558	152284558	C	G	FLG	c.2804G>C	NM_002016.1	NP_002007.1:p.(Gly935Ala)	NC_000001.10:g.152284558C>G	(Likely) benign	2 labs	f19bb77c21
11:66453406 SPTBN2 C>T	11	66453406	66453406	C	T	SPTBN2	c.7109G>A	NM_006946.4	NP_008877.2:p.(Arg2370His)	NC_000011.9:g.66453406C>T	VUS	3 labs	f1affe2b37
12:9020598 A2ML1 A>G	12	9020598	9020598	A	G	A2ML1	c.3878A>G	NM_144670.5	NP_653271.2:p.(Asn1293Ser)	NC_000012.11:g.9020598A>G	(Likely) benign	2 labs	f1b0e2edc5
15:90210386 PLIN1 G>A	15	90210386	90210386	G	A	PLIN1	c.990C>T	NM_002666.4	NP_002657.3:p.(Gly330=)	NC_000015.9:g.90210386G>A	(Likely) benign	2 labs	f1b1007d0e
21:34927291 SON T>C	21	34927291	34927291	T	C	SON	c.5754T>C	NM_138927.2	NP_620305.2:p.(Val1918=)	NC_000021.8:g.34927291T>C	(Likely) benign	2 labs	f1b4e64310
14:23886782 MYH7 A>G	14	23886782	23886782	A	G	MYH7	c.4283T>C	NM_000257.2	NP_000248.2:p.(Leu1428Ser)	NC_000014.8:g.23886782A>G	VUS	2 labs	f1b53f09d5
8:61777639 CHD7 C>T	8	61777639	61777639	C	T	CHD7				NC_000008.10:g.61777639C>T	(Likely) benign	2 labs	f1b8799b3d
15:67473779 SMAD3 C>T	15	67473779	67473779	C	T	SMAD3	c.859C>T	NM_005902.4	NP_005893.1:p.(Arg287Trp)	NC_000015.9:g.67473779C>T	(Likely) pathogenic	2 labs	f1ba5a0f4f
1:43909344 SZT2 C>T	1	43909344	43909344	C	T	SZT2	c.8531C>T	NM_015284.3	NP_056099.3:p.(Pro2844Leu)	NC_000001.10:g.43909344C>T	(Likely) benign	2 labs	f1be92432b
15:28478316 HERC2 T>G	15	28478316	28478316	T	G	HERC2	c.4651A>C	NM_004667.6	NP_004658.3:p.(Ile1551Leu)	NC_000015.9:g.28478316T>G	VUS	2 labs	f1c34a808f
19:46269016 SIX5 G>A	19	46269016	46269016	G	A	SIX5	c.1963C>T	NM_175875.4	NP_787071.2:p.(Leu655=)	NC_000019.9:g.46269016G>A	(Likely) benign	2 labs	f1c23020b5
18:28651592 DSC2 A>G	18	28651592	28651592	A	G	DSC2	c.2104T>C	NM_004949.5	NP_004940.1:p.(Leu702=)	NC_000018.9:g.28651592A>G	(Likely) benign	3 labs	f1c0343557
9:100237749 TDRD7 G>A	9	100237749	100237749	G	A	TDRD7	c.2164G>A	NM_014290.2	NP_055105.2:p.(Glu722Lys)	NC_000009.11:g.100237749G>A	VUS	2 labs	f1cfa1dd3f
2:32312629 SPAST G>A	2	32312629	32312629	G	A	SPAST	c.484G>A	NM_014946.3	NP_055761.2:p.(Val162Ile)	NC_000002.11:g.32312629G>A	(Likely) benign	2 labs	f1d455d478
5:172659604 NKX2-5 C>A	5	172659604	172659604	C	A	NKX2-5	c.943G>T	NM_004387.3	NP_004378.1:p.(Val315Leu)	NC_000005.9:g.172659604C>A	(Likely) benign	2 labs	f1d5caf3f0
11:6637739 TPP1 ATTT>A	11	6637739	6637759	ATTT	A	TPP1	c.887-8_887-6del	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6637757_6637759del	(Likely) benign	3 labs	f1dc5a09a3
2:1947113 MYT1L A>T	2	1947113	1947113	A	T	MYT1L	c.153-7T>A	NM_001329851.1	NP_001316780.1:p.?	NC_000002.11:g.1947113A>T	(Likely) benign	2 labs	f1de7ecc1a
5:149753894 TCOF1 G>A	5	149753894	149753894	G	A	TCOF1	c.1028G>A	NM_001135243.1	NP_001128715.1:p.(Ser343Asn)	NC_000005.9:g.149753894G>A	(Likely) benign	2 labs	f1dfece7c3
2:179650701 TTN C>T	2	179650701	179650701	C	T	TTN	c.2244G>A	NM_001267550.2	NP_001254479.2:p.(Glu748=)	NC_000002.11:g.179650701C>T	(Likely) benign	3 labs	f1e3484fa3
2:121745979 GLI2 TCTC>T	2	121745979	121745983	TCTC	T	GLI2	c.2440_2442del	NM_001374353.1	NP_001361282.1:p.(Ser815del)	NC_000002.11:g.121745981_121745983del	VUS	2 labs	f1ec3febee
14:64564653 SYNE2 CTCTT>C	14	64564653	64564660	CTCTT	C	SYNE2	c.12109-10_12109-7del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64564657_64564660del	(Likely) benign	2 labs	f1f1a5c1af
8:145541488 DGAT1 G>A	8	145541488	145541488	G	A	DGAT1	c.856-3C>T	NM_012079.5	NP_036211.2:p.?	NC_000008.10:g.145541488G>A	(Likely) benign	2 labs	f1f50b1363
17:40695346 NAGLU C>T	17	40695346	40695346	C	T	NAGLU	c.1322C>T	NM_000263.4	NP_000254.2:p.(Thr441Met)	NC_000017.10:g.40695346C>T	VUS	2 labs	f1fbd9b526
3:122000973 CASR A>G	3	122000973	122000973	A	G	CASR	c.1652A>G	NM_001178065.1	NP_001171536.1:p.(Asn551Ser)	NC_000003.11:g.122000973A>G	VUS	2 labs	f1fcbb94f0
X:153219113 HCFC1 G>A	X	153219113	153219113	G	A	HCFC1	c.4442C>T	NM_005334.2	NP_005325.2:p.(Thr1481Met)	NC_000023.10:g.153219113G>A	(Likely) benign	2 labs	f20191a27d
17:77757671 CBX2 G>A	17	77757671	77757671	G	A	CBX2	c.429G>A	NM_005189.2	NP_005180.1:p.(Pro143=)	NC_000017.10:g.77757671G>A	(Likely) benign	2 labs	f2024f1cef
17:41256319 BRCA1 A>G	17	41256319	41256319	A	G	BRCA1	c.302-41T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256319A>G	(Likely) benign	3 labs	f205fc9030
4:114279900 ANK2 G>A	4	114279900	114279900	G	A	ANK2	c.10126G>A	NM_001148.4	NP_001139.3:p.(Gly3376Arg)	NC_000004.11:g.114279900G>A	VUS	2 labs	f209a5a829
3:9986194 CRELD1 G>A	3	9986194	9986194	G	A	CRELD1	c.1194G>A	NM_015513.4	NP_056328.2:p.(Ala398=)	NC_000003.11:g.9986194G>A	(Likely) benign	3 labs	f2140b1093
9:135771814 TSC1 C>T	9	135771814	135771814	C	T	TSC1	c.3303G>A	NM_000368.5	NP_000359.1:p.(Glu1101=)	NC_000009.11:g.135771814C>T	(Likely) benign	2 labs	f214a95076
4:100542308 MTTP G>C	4	100542308	100542308	G	C	MTTP	c.2433G>C	NM_000253.4	NP_000244.2:p.(Leu811Phe)	NC_000004.11:g.100542308G>C	(Likely) benign	2 labs	f215a4f2cc
5:112176559 APC T>G	5	112176559	112176559	T	G	APC	c.5268T>G	NM_000038.6	NP_000029.2:p.(Ser1756=)	NC_000005.9:g.112176559T>G	(Likely) benign	3 labs	f221481918
1:235966273 LYST A>G	1	235966273	235966273	A	G	LYST	c.3647T>C	NM_001301365.1	NP_001288294.1:p.(Val1216Ala)	NC_000001.10:g.235966273A>G	(Likely) benign	2 labs	f21ea68939
13:32906508 BRCA2 C>T	13	32906508	32906508	C	T	BRCA2	c.893C>T	NM_000059.3	NP_000050.2:p.(Thr298Ile)	NC_000013.10:g.32906508C>T	(Likely) benign	2 labs	f2238ab860
16:2129088 TSC2 G>A	16	2129088	2129088	G	A	TSC2	c.3022G>A	NM_000548.3	NP_000539.2:p.(Val1008Met)	NC_000016.9:g.2129088G>A	(Likely) benign	2 labs	f22fc2310c
12:49446088 KMT2D G>T	12	49446088	49446088	G	T	KMT2D	c.1378C>A	NM_003482.3	NP_003473.3:p.(Pro460Thr)	NC_000012.11:g.49446088G>T	(Likely) benign	2 labs	f234509920
9:131678619 LRRC8A G>A	9	131678619	131678619	G	A	LRRC8A	c.2402G>A	NM_019594.4	NP_062540.2:p.(Arg801Gln)	NC_000009.11:g.131678619G>A	(Likely) benign	2 labs	f237131539
1:235897135 LYST T>C	1	235897135	235897135	T	C	LYST	c.8607A>G	NM_001301365.1	NP_001288294.1:p.(Gln2869=)	NC_000001.10:g.235897135T>C	(Likely) benign	2 labs	f2363221cf
16:84188375 DNAAF1 C>G	16	84188375	84188375	C	G	DNAAF1	c.546C>G	NM_178452.6	NP_848547.4:p.(Asn182Lys)	NC_000016.9:g.84188375C>G	VUS	2 labs	f24300c235
15:89860708 POLG C>T	15	89860708	89860708	C	T	POLG	c.3542G>A	NM_002693.3	NP_002684.1:p.(Ser1181Asn)	NC_000015.9:g.89860708C>T	VUS	3 labs	f2479321f1
2:44502905 SLC3A1 T>A	2	44502905	44502905	T	A	SLC3A1	c.231T>A	NM_000341.3	NP_000332.2:p.(Ser77=)	NC_000002.11:g.44502905T>A	(Likely) benign	3 labs	f24cf09e91
12:89919663 POC1B C>T	12	89919663	89919663	C	T	POC1B	c.10G>A	NM_172240.2	NP_758440.1:p.(Ala4Thr)	NC_000012.11:g.89919663C>T	(Likely) benign	2 labs	f25147a8c2
6:118881486 PLN C>T	6	118881486	118881486	C	T	PLN	c.*1243C>T	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118881486C>T	(Likely) benign	2 labs	f2577e31d0
15:43170809 TTBK2 C>G	15	43170809	43170809	C	G	TTBK2	c.7G>C	NM_173500.3	NP_775771.3:p.(Gly3Arg)	NC_000015.9:g.43170809C>G	VUS	2 labs	f26018122c
7:6026514 PMS2 G>A	7	6026514	6026514	G	A	PMS2	c.1882C>T	NM_000535.7	NP_000526.2:p.(Arg628Ter)	NC_000007.13:g.6026514G>A	(Likely) pathogenic	5 labs	f265e71790
17:27064924 NEK8 G>A	17	27064924	27064924	G	A	NEK8	c.977G>A	NM_178170.3	NP_835464.1:p.(Arg326Gln)	NC_000017.10:g.27064924G>A	VUS	2 labs	f26d8b47f9
2:170009390 LRP2 C>T	2	170009390	170009390	C	T	LRP2	c.12380G>A	NM_004525.3	NP_004516.2:p.(Arg4127His)	NC_000002.11:g.170009390C>T	(Likely) benign	4 labs	f27908c496
22:38122225 TRIOBP G>A	22	38122225	38122225	G	A	TRIOBP	c.3662G>A	NM_001039141.2	NP_001034230.1:p.(Arg1221Gln)	NC_000022.10:g.38122225G>A	VUS	2 labs	f279abd0d2
5:149919828 NDST1 T>TG	5	149919828	149919834	T	TG	NDST1	c.1749+8dup	NM_001543.4	NP_001534.1:p.?	NC_000005.9:g.149919834dup	(Likely) benign	2 labs	f27c71ab0d
17:17700301 RAI1 A>G	17	17700301	17700301	A	G	RAI1	c.4039A>G	NM_030665.4	NP_109590.3:p.(Lys1347Glu)	NC_000017.10:g.17700301A>G	(Likely) benign	2 labs	f281f5009c
15:99478540 IGF1R C>T	15	99478540	99478540	C	T	IGF1R	c.3187-5C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99478540C>T	(Likely) benign	3 labs	f28727c65d
12:88512326 CEP290 G>A	12	88512326	88512326	G	A	CEP290	c.1645C>T	NM_025114.3	NP_079390.3:p.(Arg549Ter)	NC_000012.11:g.88512326G>A	(Likely) pathogenic	2 labs	f280fa4f14
2:220284997 DES C>T	2	220284997	220284997	C	T	DES	c.664C>T	NM_001927.4	NP_001918.3:p.(Arg222Cys)	NC_000002.11:g.220284997C>T	VUS	2 labs	f2842c898a
7:92763367 SAMD9L A>C	7	92763367	92763367	A	C	SAMD9L	c.1918T>G	NM_152703.4	NP_689916.2:p.(Ser640Ala)	NC_000007.13:g.92763367A>C	(Likely) benign	2 labs	f28897cef9
11:103026168 DYNC2H1 C>A	11	103026168	103026168	C	A	DYNC2H1	c.3682C>A	NM_001080463.1	NP_001073932.1:p.(Leu1228Ile)	NC_000011.9:g.103026168C>A	VUS	3 labs	f28aa97a41
8:145738400 RECQL4 G>A	8	145738400	145738400	G	A	RECQL4	c.2585C>T	NM_004260.3	NP_004251.3:p.(Ser862Leu)	NC_000008.10:g.145738400G>A	(Likely) benign	3 labs	f28b7d1c28
1:150526423 ADAMTSL4 C>CG	1	150526423	150526430	C	CG	ADAMTSL4	c.963dup	NM_019032.6	NP_061905.2:p.(Thr322AspfsTer10)	NC_000001.10:g.150526430dup	(Likely) pathogenic	2 labs	f289e85215
3:124418847 KALRN G>A	3	124418847	124418847	G	A	KALRN	c.7963G>A	NM_001024660.5	NP_001019831.2:p.(Glu2655Lys)	NC_000003.11:g.124418847G>A	(Likely) benign	2 labs	f29ab618dd
4:140394120 RAB33B C>T	4	140394120	140394120	C	T	RAB33B	c.530C>T	NM_031296.3	NP_112586.1:p.(Thr177Met)	NC_000004.11:g.140394120C>T	VUS	3 labs	f2a226bc3a
6:42936151 PEX6 C>G	6	42936151	42936151	C	G	PEX6	c.1565G>C	NM_000287.4	NP_000278.3:p.(Arg522Pro)	NC_000006.11:g.42936151C>G	VUS	3 labs	f2a4565238
15:44952632 SPG11 A>G	15	44952632	44952632	A	G	SPG11	c.440T>C	NM_025137.4	NP_079413.3:p.(Ile147Thr)	NC_000015.9:g.44952632A>G	(Likely) benign	2 labs	f2a51bd4db
11:6415566 SMPD1 G>A	11	6415566	6415566	G	A	SMPD1	c.704G>A	NM_001318088.1	NP_001305017.1:p.(Arg235Gln)	NC_000011.9:g.6415566G>A	(Likely) benign	2 labs	f2ab67a14e
2:48033735 MSH6 GGACATAGAAAAGCAAGA>G	2	48033735	48033754	GGACATAGAAAAGCAAGA	G	MSH6	c.3949_3965del	NM_000179.3	NP_000170.1:p.(His1317IlefsTer2)	NC_000002.11:g.48033738_48033754del	(Likely) pathogenic	2 labs	f2acd3dd4a
16:2550475 TBC1D24 C>T	16	2550475	2550475	C	T	TBC1D24	c.1509C>T	NM_001199107.1	NP_001186036.1:p.(Ser503=)	NC_000016.9:g.2550475C>T	(Likely) benign	2 labs	f2b4f3ddf6
17:63533618 AXIN2 C>A	17	63533618	63533618	C	A	AXIN2	c.1536G>T	NM_004655.3	NP_004646.3:p.(Lys512Asn)	NC_000017.10:g.63533618C>A	VUS	2 labs	f2b7ab3506
1:16376111 CLCNKB A>G	1	16376111	16376111	A	G	CLCNKB	c.782-2A>G	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16376111A>G	(Likely) pathogenic	2 labs	f2bbb44d3e
21:47836727 PCNT G>A	21	47836727	47836727	G	A	PCNT	c.6895G>A	NM_006031.5	NP_006022.3:p.(Asp2299Asn)	NC_000021.8:g.47836727G>A	(Likely) benign	2 labs	f2bdb82a41
16:85953803 IRF8 C>T	16	85953803	85953803	C	T	IRF8	c.1077C>T	NM_002163.2	NP_002154.1:p.(Pro359=)	NC_000016.9:g.85953803C>T	(Likely) benign	2 labs	f2bf8f3cf0
19:17988795 SLC5A5 G>A	19	17988795	17988795	G	A	SLC5A5	c.862G>A	NM_000453.3	NP_000444.1:p.(Gly288Ser)	NC_000019.9:g.17988795G>A	VUS	2 labs	f2b88a6511
X:153283744 IRAK1 G>T	X	153283744	153283744	G	T	IRAK1	c.792C>A	NM_001569.3	NP_001560.2:p.(Ser264=)	NC_000023.10:g.153283744G>T	(Likely) benign	2 labs	f2c45be65b
2:170059306 LRP2 G>A	2	170059306	170059306	G	A	LRP2	c.8169C>T	NM_004525.3	NP_004516.2:p.(Asn2723=)	NC_000002.11:g.170059306G>A	(Likely) benign	2 labs	f2c760c9fa
1:197059514 ASPM A>G	1	197059514	197059514	A	G	ASPM	c.9641T>C	NM_018136.4	NP_060606.3:p.(Leu3214Ser)	NC_000001.10:g.197059514A>G	VUS	2 labs	f2ccb280c3
5:140953310 DIAPH1 G>C	5	140953310	140953310	G	C	DIAPH1	c.2107C>G	NM_001314007.1	NP_001300936.1:p.(Pro703Ala)	NC_000005.9:g.140953310G>C	(Likely) benign	2 labs	f2d4111551
12:103237484 PAH G>A	12	103237484	103237484	G	A	PAH	c.1139C>T	NM_000277.1	NP_000268.1:p.(Thr380Met)	NC_000012.11:g.103237484G>A	(Likely) pathogenic	3 labs	f2d5e5a138
5:89988549 ADGRV1 G>A	5	89988549	89988549	G	A	ADGRV1	c.7079G>A	NM_032119.4	NP_115495.3:p.(Arg2360His)	NC_000005.9:g.89988549G>A	(Likely) benign	2 labs	f2d7474c96
9:137704286 COL5A1 T>C	9	137704286	137704286	T	C	COL5A1	c.3691-9T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137704286T>C	(Likely) benign	3 labs	f2cf8c05ef
2:10584626 ODC1 C>T	2	10584626	10584626	C	T	ODC1	c.250G>A	NM_002539.3	NP_002530.1:p.(Gly84Arg)	NC_000002.11:g.10584626C>T	(Likely) benign	2 labs	f2dd62da4e
1:29342245 EPB41 C>T	1	29342245	29342245	C	T	EPB41	c.244C>T	NM_203342.2	NP_976217.1:p.(Pro82Ser)	NC_000001.10:g.29342245C>T	(Likely) benign	2 labs	f2ddd81f7e
11:130066457 ST14 C>CT	11	130066457	130066458	C	CT	ST14	c.1224-8_1224-7insT	NM_021978.3	NP_068813.1:p.?	NC_000011.9:g.130066457_130066458insT	(Likely) benign	2 labs	f2e28b80f9
1:215963521 USH2A C>G	1	215963521	215963521	C	G	USH2A	c.10062G>C	NM_206933.4	NP_996816.3:p.(Val3354=)	NC_000001.10:g.215963521C>G	(Likely) benign	2 labs	f2e328d525
7:103050999 SLC26A5 A>AT	7	103050999	103051008	A	AT	SLC26A5	c.571-4dup	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103051008dup	(Likely) benign	2 labs	f2e3a98af7
11:102991668 DYNC2H1 C>A	11	102991668	102991668	C	A	DYNC2H1	c.1263C>A	NM_001080463.1	NP_001073932.1:p.(Phe421Leu)	NC_000011.9:g.102991668C>A	(Likely) benign	2 labs	f2efe3f362
22:41573775 EP300 G>C	22	41573775	41573775	G	C	EP300	c.6060G>C	NM_001429.4	NP_001420.2:p.(Gln2020His)	NC_000022.10:g.41573775G>C	VUS	2 labs	f2f6c8f31b
4:15482860 CC2D2A C>T	4	15482860	15482860	C	T	CC2D2A	c.287C>T	NM_001164720.1	NP_001158192.1:p.(Thr96Met)	NC_000004.11:g.15482860C>T	(Likely) benign	3 labs	f2f7714a6a
X:132887500 GPC3 G>A	X	132887500	132887500	G	A	GPC3	c.1032+9C>T	NM_001164617.1	NP_001158089.1:p.?	NC_000023.10:g.132887500G>A	(Likely) benign	2 labs	f2fa3785ba
X:122536930 GRIA3 A>C	X	122536930	122536930	A	C	GRIA3	c.1166A>C	NM_000828.5	NP_000819.4:p.(Lys389Thr)	NC_000023.10:g.122536930A>C	(Likely) benign	4 labs	f3012f81fd
14:53619480 DDHD1 T>TGCCGCCGCCGCC	14	53619480	53619494	T	TGCCGCCGCCGCC	DDHD1	c.325_336dup	NM_001160148.1	NP_001153620.1:p.(Gly109_Gly112dup)	NC_000014.8:g.53619483_53619494dup	(Likely) benign	2 labs	f304162876
20:34022387 GDF5 A>C	20	34022387	34022387	A	C	GDF5	c.826=	NM_000557.5	NP_000548.2:p.(Ala276=)	NC_000020.10:g.34022387A>C	(Likely) benign	3 labs	f30879f43c
22:21340186 LZTR1 G>C	22	21340186	21340186	G	C	LZTR1	c.320G>C	NM_006767.3	NP_006758.2:p.(Arg107Thr)	NC_000022.10:g.21340186G>C	VUS	3 labs	f308867bf9
X:109561081 AMMECR1 G>T	X	109561081	109561081	G	T	AMMECR1	c.219C>A	NM_015365.3	NP_056180.1:p.(Pro73=)	NC_000023.10:g.109561081G>T	(Likely) benign	3 labs	f319b6e061
11:121485608 SORL1 T>C	11	121485608	121485608	T	C	SORL1	c.5448T>C	NM_003105.6	NP_003096.2:p.(Tyr1816=)	NC_000011.9:g.121485608T>C	(Likely) benign	2 labs	f319666f91
12:48371798 COL2A1 G>C	12	48371798	48371798	G	C	COL2A1	c.3106C>G	NM_001844.4	NP_001835.3:p.(Arg1036Gly)	NC_000012.11:g.48371798G>C	VUS	2 labs	f32592a2a2
3:123419396 MYLK C>T	3	123419396	123419396	C	T	MYLK	c.2919G>A	NM_053025.4	NP_444253.3:p.(Pro973=)	NC_000003.11:g.123419396C>T	(Likely) benign	3 labs	f32961d5c1
1:5965548 NPHP4 G>A	1	5965548	5965548	G	A	NPHP4	c.1764-5C>T	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.5965548G>A	(Likely) benign	2 labs	f32c101cdb
14:23884196 MYH7 C>T	14	23884196	23884196	C	T	MYH7	c.5559+8G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23884196C>T	(Likely) benign	2 labs	f341e1aa4a
18:29099850 DSG2 G>A	18	29099850	29099850	G	A	DSG2	c.166G>A	NM_001943.5	NP_001934.2:p.(Val56Met)	NC_000018.9:g.29099850G>A	(Likely) benign	5 labs	f34c7c9e94
12:5021669 KCNA1 C>T	12	5021669	5021669	C	T	KCNA1	c.1125C>T	NM_000217.3	NP_000208.2:p.(Tyr375=)	NC_000012.11:g.5021669C>T	(Likely) benign	2 labs	f352c45096
17:33904286 PEX12 G>A	17	33904286	33904286	G	A	PEX12	c.451C>T	NM_000286.3	NP_000277.1:p.(Arg151Cys)	NC_000017.10:g.33904286G>A	(Likely) benign	2 labs	f363cc0d4b
8:144993273 PLEC G>A	8	144993273	144993273	G	A	PLEC	c.11127C>T	NM_201380.3	NP_958782.1:p.(Ile3709=)	NC_000008.10:g.144993273G>A	(Likely) benign	2 labs	f3687ee2ae
11:8122543 TUB C>T	11	8122543	8122543	C	T	TUB	c.1551C>T	NM_003320.5	NP_003311.2:p.(Asp517=)	NC_000011.9:g.8122543C>T	(Likely) benign	3 labs	f36779f09b
4:1803409 FGFR3 C>T	4	1803409	1803409	C	T	FGFR3	c.678C>T	NM_000142.4	NP_000133.1:p.(Tyr226=)	NC_000004.11:g.1803409C>T	(Likely) benign	2 labs	f3700bd845
6:152532702 SYNE1 T>C	6	152532702	152532702	T	C	SYNE1	c.22516A>G	NM_182961.3	NP_892006.3:p.(Ser7506Gly)	NC_000006.11:g.152532702T>C	(Likely) benign	4 labs	f377130e8d
13:32900405 BRCA2 C>A	13	32900405	32900405	C	A	BRCA2	c.502C>A	NM_000059.3	NP_000050.2:p.(Pro168Thr)	NC_000013.10:g.32900405C>A	(Likely) benign	2 labs	f3777e0c2d
13:20763051 GJB2 T>G	13	20763051	20763051	T	G	GJB2	c.670A>C	NM_004004.6	NP_003995.2:p.(Lys224Gln)	NC_000013.10:g.20763051T>G	VUS	3 labs	f3788a3ae6
2:47249057 TTC7A G>A	2	47249057	47249057	G	A	TTC7A	c.1449G>A	NM_001288951.1	NP_001275880.1:p.(Gly483=)	NC_000002.11:g.47249057G>A	(Likely) benign	2 labs	f38249669b
X:151123532 GABRE C>T	X	151123532	151123532	C	T	GABRE	c.1162G>A	NM_004961.3	NP_004952.2:p.(Ala388Thr)	NC_000023.10:g.151123532C>T	(Likely) benign	2 labs	f382a715cc
4:123664247 BBS12 G>A	4	123664247	123664247	G	A	BBS12	c.1200G>A	NM_001178007.1	NP_001171478.1:p.(Val400=)	NC_000004.11:g.123664247G>A	(Likely) benign	2 labs	f39353a030
10:112572172 RBM20 C>T	10	112572172	112572172	C	T	RBM20	c.2017C>T	NM_001134363.1	NP_001127835.1:p.(Arg673Trp)	NC_000010.10:g.112572172C>T	VUS	2 labs	f3935e879d
14:59112874 DACT1 G>A	14	59112874	59112874	G	A	DACT1	c.1533G>A	NM_016651.5	NP_057735.2:p.(Gln511=)	NC_000014.8:g.59112874G>A	(Likely) benign	2 labs	f394da3eef
9:139407591 NOTCH1 A>G	9	139407591	139407591	A	G	NOTCH1	c.2354-5T>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407591A>G	(Likely) benign	2 labs	f39c512280
9:2718588 KCNV2 G>A	9	2718588	2718588	G	A	KCNV2	c.849G>A	NM_133497.3	NP_598004.1:p.(Glu283=)	NC_000009.11:g.2718588G>A	(Likely) benign	2 labs	f3a7c951f9
10:16957811 CUBN T>C	10	16957811	16957811	T	C	CUBN	c.7210+9A>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16957811T>C	(Likely) benign	2 labs	f3ac60d76a
10:50732280 ERCC6 C>T	10	50732280	50732280	C	T	ERCC6	c.1196G>A	NM_000124.2	NP_000115.1:p.(Gly399Asp)	NC_000010.10:g.50732280C>T	(Likely) benign	2 labs	f3ae6a3fa8
16:10032004 GRIN2A T>C	16	10032004	10032004	T	C	GRIN2A	c.819A>G	NM_001134407.3	NP_001127879.1:p.(Pro273=)	NC_000016.9:g.10032004T>C	(Likely) benign	2 labs	f3b28cbd2e
14:23891506 MYH7 T>C	14	23891506	23891506	T	C	MYH7	c.3128A>G	NM_000257.4	NP_000248.2:p.(Lys1043Arg)	NC_000014.8:g.23891506T>C	VUS	2 labs	f3b8a572f7
6:152784602 SYNE1 G>A	6	152784602	152784602	G	A	SYNE1	c.1983C>T	NM_182961.4	NP_892006.3:p.(Asn661=)	NC_000006.11:g.152784602G>A	(Likely) benign	3 labs	f3dabd4423
9:137716529 COL5A1 C>T	9	137716529	137716529	C	T	COL5A1	c.4782C>T	NM_000093.5	NP_000084.3:p.(Asp1594=)	NC_000009.11:g.137716529C>T	(Likely) benign	3 labs	f3d2a430aa
1:196695911 CFH G>A	1	196695911	196695911	G	A	CFH	c.2077G>A	NM_000186.4	NP_000177.2:p.(Asp693Asn)	NC_000001.10:g.196695911G>A	(Likely) benign	2 labs	f3da0ad830
4:6279223 WFS1 A>G	4	6279223	6279223	A	G	WFS1	c.41A>G	NM_006005.3	NP_005996.2:p.(Gln14Arg)	NC_000004.11:g.6279223A>G	(Likely) benign	2 labs	f3e004d117
10:26310580 MYO3A C>CAT	10	26310580	26310582	C	CAT	MYO3A	c.731+4_731+5insTA	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26310581_26310582insTA	VUS	2 labs	f3e2701890
7:73477642 ELN G>A	7	73477642	73477642	G	A	ELN	c.1861G>A	NM_000501.4	NP_000492.2:p.(Ala621Thr)	NC_000007.13:g.73477642G>A	(Likely) benign	4 labs	f3dae151de
19:48624468 LIG1 A>C	19	48624468	48624468	A	C	LIG1	c.2341T>G	NM_001320970.1	NP_001307899.1:p.(Ser781Ala)	NC_000019.9:g.48624468A>C	(Likely) benign	2 labs	f3e605d10e
2:29296598 PCARE G>A	2	29296598	29296598	G	A	PCARE	c.530C>T	NM_001029883.2	NP_001025054.1:p.(Pro177Leu)	NC_000002.11:g.29296598G>A	VUS	2 labs	f3e89a0be6
X:68059843 EFNB1 G>T	X	68059843	68059843	G	T	EFNB1	c.540G>T	NM_004429.4	NP_004420.1:p.(Arg180Ser)	NC_000023.10:g.68059843G>T	(Likely) benign	2 labs	f3f0d09cc3
9:123787743 C5 A>G	9	123787743	123787743	A	G	C5	c.1007T>C	NM_001317163.1	NP_001304092.1:p.(Ile336Thr)	NC_000009.11:g.123787743A>G	(Likely) benign	3 labs	f3f7dd058d
15:85405995 ALPK3 T>C	15	85405995	85405995	T	C	ALPK3	c.4259T>C	NM_020778.5	NP_065829.4:p.(Leu1420Pro)	NC_000015.9:g.85405995T>C	(Likely) benign	4 labs	f402fd4bb0
15:90185591 KIF7 C>T	15	90185591	90185591	C	T	KIF7	c.2237G>A	NM_198525.2	NP_940927.2:p.(Arg746Gln)	NC_000015.9:g.90185591C>T	(Likely) benign	2 labs	f4059ae8c8
4:39230243 WDR19 A>G	4	39230243	39230243	A	G	WDR19	c.1915A>G	NM_025132.3	NP_079408.3:p.(Ser639Gly)	NC_000004.11:g.39230243A>G	(Likely) benign	2 labs	f40884aaed
13:32914367 BRCA2 A>C	13	32914367	32914367	A	C	BRCA2	c.5875A>C	NM_000059.3	NP_000050.2:p.(Lys1959Gln)	NC_000013.10:g.32914367A>C	(Likely) benign	3 labs	f409317826
20:10624398 JAG1 G>A	20	10624398	10624398	G	A	JAG1	c.2458+28C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10624398G>A	(Likely) benign	2 labs	f40ae835c2
X:76938047 ATRX T>C	X	76938047	76938047	T	C	ATRX	c.2701A>G	NM_000489.5	NP_000480.3:p.(Ile901Val)	NC_000023.10:g.76938047T>C	(Likely) benign	2 labs	f41451b1f7
19:38949893 RYR1 A>G	19	38949893	38949893	A	G	RYR1	c.2275A>G	NM_000540.2	NP_000531.2:p.(Asn759Asp)	NC_000019.9:g.38949893A>G	VUS	2 labs	f416fe7d20
19:3827528 ZFR2 C>T	19	3827528	3827528	C	T	ZFR2	c.976G>A	NM_015174.2	NP_055989.1:p.(Val326Met)	NC_000019.9:g.3827528C>T	VUS	2 labs	f418653dd1
13:25486877 CPAP T>C	13	25486877	25486877	T	C	CPAP	c.287A>G	NM_018451.4	NP_060921.3:p.(His96Arg)	NC_000013.10:g.25486877T>C	(Likely) benign	2 labs	f4214f3e38
19:42754492 ERF C>T	19	42754492	42754492	C	T	ERF	c.248G>A	NM_006494.3	NP_006485.2:p.(Arg83Gln)	NC_000019.9:g.42754492C>T	(Likely) pathogenic	2 labs	f42e25a4d8
4:96069934 BMPR1B G>A	4	96069934	96069934	G	A	BMPR1B	c.1112G>A	NM_001203.2	NP_001194.1:p.(Arg371Gln)	NC_000004.11:g.96069934G>A	VUS	2 labs	f43310f4aa
16:3306464 MEFV G>A	16	3306464	3306464	G	A	MEFV	c.124C>T	NM_000243.2	NP_000234.1:p.(Arg42Trp)	NC_000016.9:g.3306464G>A	VUS	2 labs	f439b90085
19:36577579 WDR62 C>T	19	36577579	36577579	C	T	WDR62	c.1643-10C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36577579C>T	(Likely) benign	2 labs	f44159c076
5:176637576 NSD1 T>C	5	176637576	176637576	T	C	NSD1	c.2176T>C	NM_022455.5	NP_071900.2:p.(Ser726Pro)	NC_000005.9:g.176637576T>C	(Likely) benign	3 labs	f442c84f43
15:40488933 BUB1B C>T	15	40488933	40488933	C	T	BUB1B	c.1246C>T	NM_001211.5	NP_001202.4:p.(Arg416Trp)	NC_000015.9:g.40488933C>T	VUS	2 labs	f450b4a8a6
17:3386869 ASPA T>C	17	3386869	3386869	T	C	ASPA	c.509T>C	NM_000049.4	NP_000040.1:p.(Ile170Thr)	NC_000017.10:g.3386869T>C	VUS	4 labs	f4570ac129
9:6610329 GLDC A>G	9	6610329	6610329	A	G	GLDC	c.498T>C	NM_000170.2	NP_000161.2:p.(Pro166=)	NC_000009.11:g.6610329A>G	(Likely) benign	2 labs	f4561053eb
12:110231333 TRPV4 AG>A	12	110231333	110231334	AG	A	TRPV4	c.1656del	NM_021625.5	NP_067638.3:p.(Tyr553ThrfsTer8)	NC_000012.11:g.110231334del	VUS	2 labs	f457ef5d8c
10:69957229 MYPN C>T	10	69957229	69957229	C	T	MYPN	c.3279C>T	NM_032578.4	NP_115967.2:p.(Asp1093=)	NC_000010.10:g.69957229C>T	(Likely) benign	3 labs	f45139ed15
2:74596331 DCTN1 C>T	2	74596331	74596331	C	T	DCTN1	c.1595G>A	NM_004082.4	NP_004073.2:p.(Arg532Gln)	NC_000002.11:g.74596331C>T	VUS	2 labs	f45aeee7b7
11:47363647 MYBPC3 G>A	11	47363647	47363647	G	A	MYBPC3	c.1685C>T	NM_000256.3	NP_000247.2:p.(Ala562Val)	NC_000011.9:g.47363647G>A	(Likely) pathogenic	2 labs	f45e2a4934
1:3328245 PRDM16 C>A	1	3328245	3328245	C	A	PRDM16	c.1484C>A	NM_022114.4	NP_071397.3:p.(Pro495Gln)	NC_000001.10:g.3328245C>A	VUS	2 labs	f46d0768d5
5:74001089 HEXB G>A	5	74001089	74001089	G	A	HEXB	c.40G>A	NM_001292004.2	NP_001278933.1:p.(Val14Ile)	NC_000005.9:g.74001089G>A	VUS	3 labs	f475e0c682
16:88782101 PIEZO1 A>AGCTCCC	16	88782101	88782108	A	AGCTCCC	PIEZO1	c.7472_7477dup	NM_001142864.4	NP_001136336.2:p.(Arg2491_Glu2492dup)	NC_000016.9:g.88782103_88782108dup	VUS	3 labs	f47b899cb1
7:105187673 RINT1 C>T	7	105187673	105187673	C	T	RINT1	c.732C>T	NM_021930.5	NP_068749.3:p.(Ile244=)	NC_000007.13:g.105187673C>T	(Likely) benign	2 labs	f477221348
4:170322975 NEK1 C>T	4	170322975	170322975	C	T	NEK1	c.3411G>A	NM_001199397.1	NP_001186326.1:p.(Leu1137=)	NC_000004.11:g.170322975C>T	(Likely) benign	2 labs	f482e41061
20:62319885 RTEL1 G>A	20	62319885	62319885	G	A	RTEL1	c.1727G>A	NM_001283009.1	NP_001269938.1:p.(Arg576His)	NC_000020.10:g.62319885G>A	(Likely) benign	2 labs	f482ef7220
3:53736791 CACNA1D C>T	3	53736791	53736791	C	T	CACNA1D	c.1344C>T	NM_000720.4	NP_000711.1:p.(Ile448=)	NC_000003.11:g.53736791C>T	(Likely) benign	3 labs	f484fa7f9f
7:45067267 CCM2 G>C	7	45067267	45067267	G	C	CCM2	c.-37G>C	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45067267G>C	(Likely) benign	2 labs	f48e557e89
X:11187695 ARHGAP6 C>T	X	11187695	11187695	C	T	ARHGAP6	c.1739G>A	NM_013427.2	NP_038286.2:p.(Arg580Gln)	NC_000023.10:g.11187695C>T	VUS	2 labs	f4932906a7
X:153047285 SRPK3 T>G	X	153047285	153047285	T	G	SRPK3	c.387T>G	NM_014370.3	NP_055185.2:p.(Cys129Trp)	NC_000023.10:g.153047285T>G	VUS	2 labs	f496b8c52f
1:22965687 C1QA C>T	1	22965687	22965687	C	T	C1QA	c.525C>T	NM_015991.2	NP_057075.1:p.(Ile175=)	NC_000001.10:g.22965687C>T	(Likely) benign	2 labs	f49c4353e3
9:133911706 LAMC3 C>T	9	133911706	133911706	C	T	LAMC3	c.963C>T	NM_006059.4	NP_006050.3:p.(Ala321=)	NC_000009.11:g.133911706C>T	(Likely) benign	2 labs	f4a43f03d4
22:32218682 DEPDC5 C>A	22	32218682	32218682	C	A	DEPDC5	c.2010C>A	NM_001242896.2	NP_001229825.1:p.(His670Gln)	NC_000022.10:g.32218682C>A	(Likely) benign	2 labs	f4a46355c4
2:191849028 STAT1 A>C	2	191849028	191849028	A	C	STAT1	c.1347+8T>G	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191849028A>C	(Likely) benign	2 labs	f4abbd474f
6:1611642 FOXC1 C>A	6	1611642	1611642	C	A	FOXC1	c.962C>A	NM_001453.3	NP_001444.2:p.(Pro321Gln)	NC_000006.11:g.1611642C>A	(Likely) benign	2 labs	f4b3e077a6
5:149513489 PDGFRB G>A	5	149513489	149513489	G	A	PDGFRB	c.231C>T	NM_001355017.1	NP_001341946.1:p.(Ile77=)	NC_000005.9:g.149513489G>A	(Likely) benign	2 labs	f4b5e55242
2:170177325 LRP2 G>C	2	170177325	170177325	G	C	LRP2	c.149C>G	NM_004525.3	NP_004516.2:p.(Thr50Ser)	NC_000002.11:g.170177325G>C	(Likely) benign	2 labs	f4bef133c2
9:13219603 MPDZ C>G	9	13219603	13219603	C	G	MPDZ	c.1041G>C	NM_001330637.1	NP_001317566.1:p.(Leu347Phe)	NC_000009.11:g.13219603C>G	(Likely) benign	2 labs	f4c5fbf224
2:227920747 COL4A4 C>T	2	227920747	227920747	C	T	COL4A4	c.2630G>A	NM_000092.4	NP_000083.3:p.(Arg877Gln)	NC_000002.11:g.227920747C>T	(Likely) benign	4 labs	f4c69771fd
2:179401719 TTN C>T	2	179401719	179401719	C	T	TTN	c.100117G>A	NM_001267550.2	NP_001254479.2:p.(Gly33373Ser)	NC_000002.11:g.179401719C>T	VUS	2 labs	f4cd0bc10d
18:31322918 ASXL3 C>T	18	31322918	31322918	C	T	ASXL3	c.3106C>T	NM_030632.2	NP_085135.1:p.(Arg1036Ter)	NC_000018.9:g.31322918C>T	(Likely) pathogenic	2 labs	f4cde0f8a1
12:88444154 CEP290 C>A	12	88444154	88444154	C	A	CEP290	c.7186G>T	NM_025114.4	NP_079390.3:p.(Asp2396Tyr)	NC_000012.11:g.88444154C>A	(Likely) benign	4 labs	f4d4bb29c7
2:179474228 TTN C>A	2	179474228	179474228	C	A	TTN	c.51809G>T	NM_001267550.2	NP_001254479.2:p.(Ser17270Ile)	NC_000002.11:g.179474228C>A	(Likely) benign	5 labs	f4dfaf9ea3
1:94506865 ABCA4 G>A	1	94506865	94506865	G	A	ABCA4	c.3422C>T	NM_000350.3	NP_000341.2:p.(Ser1141Leu)	NC_000001.10:g.94506865G>A	VUS	2 labs	36fae9fbc1
9:135778027 TSC1 G>A	9	135778027	135778027	G	A	TSC1	c.2356C>T	NM_000368.4	NP_000359.1:p.(Arg786Ter)	NC_000009.11:g.135778027G>A	(Likely) pathogenic	2 labs	f4eccf47ed
15:65937992 SLC24A1 C>T	15	65937992	65937992	C	T	SLC24A1	c.2183C>T	NM_004727.3	NP_004718.1:p.(Ala728Val)	NC_000015.9:g.65937992C>T	VUS	2 labs	f4fe060d0a
X:53620351 HUWE1 T>A	X	53620351	53620351	T	A	HUWE1	c.3714A>T	NM_031407.7	NP_113584.3:p.(Ala1238=)	NC_000023.10:g.53620351T>A	(Likely) benign	2 labs	f508874457
6:74354306 SLC17A5 G>A	6	74354306	74354306	G	A	SLC17A5	c.115C>T	NM_012434.5	NP_036566.1:p.(Arg39Cys)	NC_000006.11:g.74354306G>A	(Likely) pathogenic	2 labs	f51302ee5f
2:216274674 FN1 G>A	2	216274674	216274674	G	A	FN1	c.2105C>T	NM_212482.2	NP_997647.1:p.(Thr702Ile)	NC_000002.11:g.216274674G>A	VUS	2 labs	f51c2d93b8
14:76427370 TGFB3 G>A	14	76427370	76427370	G	A	TGFB3	c.976C>T	NM_003239.5	NP_003230.1:p.(Gln326Ter)	NC_000014.8:g.76427370G>A	(Likely) pathogenic	2 labs	f52507478b
5:13864671 DNAH5 G>A	5	13864671	13864671	G	A	DNAH5	c.4431C>T	NM_001369.2	NP_001360.1:p.(Ser1477=)	NC_000005.9:g.13864671G>A	(Likely) benign	2 labs	f52c45023c
X:152853846 CCNQ T>C	X	152853846	152853846	T	C	CCNQ	c.724A>G	NM_152274.4	NP_689487.2:p.(Thr242Ala)	NC_000023.10:g.152853846T>C	(Likely) benign	3 labs	f52c90f669
14:75472570 EIF2B2 G>T	14	75472570	75472570	G	T	EIF2B2	c.599G>T	NM_014239.3	NP_055054.1:p.(Gly200Val)	NC_000014.8:g.75472570G>T	(Likely) pathogenic	2 labs	f52e46119c
6:43018765 CUL7 TCTC>T	6	43018765	43018771	TCTC	T	CUL7	c.1171_1173del	NM_014780.5	NP_055595.2:p.(Glu391del)	NC_000006.11:g.43018769_43018771del	(Likely) benign	2 labs	f52ed0c9e5
9:71865943 TJP2 C>T	9	71865943	71865943	C	T	TJP2	c.2992-8C>T	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71865943C>T	(Likely) benign	2 labs	f532dd2ade
X:129206293 ELF4 G>A	X	129206293	129206293	G	A	ELF4	c.440C>T	NM_001421.3	NP_001412.1:p.(Ala147Val)	NC_000023.10:g.129206293G>A	(Likely) benign	2 labs	f538f7d35e
10:78729752 KCNMA1 G>A	10	78729752	78729752	G	A	KCNMA1	c.2187C>T	NM_001322830.1	NP_001309759.1:p.(Asn729=)	NC_000010.10:g.78729752G>A	(Likely) benign	2 labs	f53910bc67
8:11420609 BLK G>A	8	11420609	11420609	G	A	BLK	c.1302G>A	NM_001715.2	NP_001706.2:p.(Val434=)	NC_000008.10:g.11420609G>A	(Likely) benign	2 labs	f53a5acb67
22:18904466 PRODH T>C	22	18904466	18904466	T	C	PRODH	c.1463A>G	NM_016335.4	NP_057419.4:p.(Asn488Ser)	NC_000022.10:g.18904466T>C	(Likely) benign	2 labs	f53aa1b8d3
1:155210420 GBA1 C>T	1	155210420	155210420	C	T	GBA1	c.115+1G>A	NM_000157.4	NP_000148.2:p.?	NC_000001.10:g.155210420C>T	(Likely) pathogenic	3 labs	f53df34bb6
17:41215391 BRCA1 C>T	17	41215391	41215391	C	T	BRCA1	c.5153-1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215391C>T	(Likely) pathogenic	2 labs	f553b83dd2
2:166740469 TTC21B A>G	2	166740469	166740469	A	G	TTC21B	c.3519T>C	NM_024753.4	NP_079029.3:p.(Thr1173=)	NC_000002.11:g.166740469A>G	(Likely) benign	2 labs	f552701ffe
17:70119704 SOX9 A>AC	17	70119704	70119708	A	AC	SOX9	c.710dup	NM_000346.3	NP_000337.1:p.(Pro238ThrfsTer14)	NC_000017.10:g.70119708dup	(Likely) benign	2 labs	f555651630
12:116445450 MED13L CA>C	12	116445450	116445470	CA	C	MED13L	c.2013-10del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116445470del	(Likely) benign	2 labs	f564b58e02
X:153583294 FLNA C>T	X	153583294	153583294	C	T	FLNA	c.5116G>A	NM_001110556.2	NP_001104026.1:p.(Gly1706Ser)	NC_000023.10:g.153583294C>T	(Likely) benign	2 labs	f56814d174
9:140002963 MAN1B1 G>A	9	140002963	140002963	G	A	MAN1B1	c.2020G>A	NM_016219.4	NP_057303.2:p.(Asp674Asn)	NC_000009.11:g.140002963G>A	VUS	2 labs	f57d62621a
13:108862702 LIG4 A>G	13	108862702	108862702	A	G	LIG4	c.915T>C	NM_002312.3	NP_002303.2:p.(Ser305=)	NC_000013.10:g.108862702A>G	(Likely) benign	2 labs	f5860824b9
16:2156459 PKD1 G>A	16	2156459	2156459	G	A	PKD1	c.7429C>T	NM_001009944.2	NP_001009944.2:p.(Arg2477Cys)	NC_000016.9:g.2156459G>A	(Likely) benign	3 labs	f58a9f9a0b
5:36608540 SLC1A3 T>C	5	36608540	36608540	T	C	SLC1A3	c.15T>C	NM_004172.4	NP_004163.3:p.(Asn5=)	NC_000005.9:g.36608540T>C	(Likely) benign	2 labs	f597dd8a97
8:90993016 NBN A>G	8	90993016	90993016	A	G	NBN	c.180T>C	NM_001024688.2	NP_001019859.1:p.(Asn60=)	NC_000008.10:g.90993016A>G	(Likely) benign	2 labs	f5a87b0089
5:126113260 LMNB1 G>A	5	126113260	126113260	G	A	LMNB1	c.60G>A	NM_005573.3	NP_005564.1:p.(Thr20=)	NC_000005.9:g.126113260G>A	(Likely) benign	2 labs	f5ab4ab441
11:108196865 ATM A>T	11	108196865	108196865	A	T	ATM	c.6888A>T	NM_000051.3	NP_000042.3:p.(Ala2296=)	NC_000011.9:g.108196865A>T	(Likely) benign	2 labs	f5b94af770
20:31024704 ASXL1 G>A	20	31024704	31024704	G	A	ASXL1	c.4189G>A	NM_015338.5	NP_056153.2:p.(Gly1397Ser)	NC_000020.10:g.31024704G>A	(Likely) benign	2 labs	f5ba16639f
11:111706952 ALG9 G>A	11	111706952	111706952	G	A	ALG9	c.1025C>T	NM_001077691.1	NP_001071159.1:p.(Pro342Leu)	NC_000011.9:g.111706952G>A	(Likely) benign	3 labs	f5bdb0d51d
5:147499677 SPINK5 T>G	5	147499677	147499677	T	G	SPINK5	c.2419T>G	NM_001127698.1	NP_001121170.1:p.(Cys807Gly)	NC_000005.9:g.147499677T>G	VUS	3 labs	f5c2014a7e
16:15931809 MYH11 C>T	16	15931809	15931809	C	T	MYH11	c.301G>A	NM_001040113.1	NP_001035202.1:p.(Val101Met)	NC_000016.9:g.15931809C>T	VUS	2 labs	f5cabf50f5
15:45660274 GATM A>G	15	45660274	45660274	A	G	GATM	c.282T>C	NM_001321015.1	NP_001307944.1:p.(Tyr94=)	NC_000015.9:g.45660274A>G	(Likely) benign	2 labs	f5caffaeba
1:63872011 ALG6 T>G	1	63872011	63872011	T	G	ALG6	c.370T>G	NM_013339.4	NP_037471.2:p.(Tyr124Asp)	NC_000001.10:g.63872011T>G	VUS	2 labs	f5cc53810d
8:11412934 BLK G>A	8	11412934	11412934	G	A	BLK	c.713G>A	NM_001715.2	NP_001706.2:p.(Arg238Gln)	NC_000008.10:g.11412934G>A	(Likely) benign	3 labs	f5d55b315b
16:50811826 CYLD C>A	16	50811826	50811826	C	A	CYLD	c.1112C>A	NM_015247.2	NP_056062.1:p.(Ser371Ter)	NC_000016.9:g.50811826C>A	(Likely) pathogenic	2 labs	f5d8769528
2:227875219 COL4A4 TG>T	2	227875219	227875221	TG	T	COL4A4	c.4334-3del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227875221del	(Likely) benign	3 labs	f5dc2d2c61
1:211093374 KCNH1 C>T	1	211093374	211093374	C	T	KCNH1	c.1070G>A	NM_172362.2	NP_758872.1:p.(Arg357Gln)	NC_000001.10:g.211093374C>T	(Likely) pathogenic	2 labs	f5e02fa2d0
20:62327126 RTEL1 C>G	20	62327126	62327126	C	G	RTEL1	c.3823-5C>G	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62327126C>G	(Likely) benign	4 labs	f5e4561663
21:46902702 COL18A1 C>T	21	46902702	46902702	C	T	COL18A1	c.2215-7C>T	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46902702C>T	(Likely) benign	2 labs	f5e6873c4b
2:64144021 VPS54 A>C	2	64144021	64144021	A	C	VPS54	c.2228+13T>G	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64144021A>C	(Likely) benign	2 labs	f5e2c49da8
4:1807161 FGFR3 C>T	4	1807161	1807161	C	T	FGFR3	c.1492C>T	NM_000142.4	NP_000133.1:p.(Arg498Trp)	NC_000004.11:g.1807161C>T	VUS	2 labs	f5f4903095
3:37089130 MLH1 AA>GC	3	37089130	37089131	AA	GC	MLH1	c.1852_1853delinsGC	NM_000249.3	NP_000240.1:p.(Lys618Ala)	NC_000003.11:g.37089130_37089131delinsGC	(Likely) benign	2 labs	f602d97037
1:237765380 RYR2 A>G	1	237765380	237765380	A	G	RYR2	c.4652A>G	NM_001035.3	NP_001026.2:p.(Asn1551Ser)	NC_000001.10:g.237765380A>G	(Likely) benign	2 labs	f604e93d14
10:79742529 POLR3A C>T	10	79742529	79742529	C	T	POLR3A	c.3476G>A	NM_007055.3	NP_008986.2:p.(Arg1159His)	NC_000010.10:g.79742529C>T	VUS	2 labs	f605620c06
X:53264345 IQSEC2 G>A	X	53264345	53264345	G	A	IQSEC2	c.3523C>T	NM_001111125.2	NP_001104595.1:p.(Arg1175Cys)	NC_000023.10:g.53264345G>A	(Likely) benign	2 labs	f6067105d7
13:32913393 BRCA2 T>C	13	32913393	32913393	T	C	BRCA2	c.4901T>C	NM_000059.3	NP_000050.2:p.(Phe1634Ser)	NC_000013.10:g.32913393T>C	(Likely) benign	2 labs	f60f227cad
5:176813472 SLC34A1 C>T	5	176813472	176813472	C	T	SLC34A1	c.437C>T	NM_003052.4	NP_003043.3:p.(Pro146Leu)	NC_000005.9:g.176813472C>T	VUS	2 labs	f6163c3f40
15:49048705 CEP152 G>C	15	49048705	49048705	G	C	CEP152	c.2740C>G	NM_001194998.1	NP_001181927.1:p.(Leu914Val)	NC_000015.9:g.49048705G>C	(Likely) benign	2 labs	f61ec193de
17:48264366 COL1A1 G>T	17	48264366	48264366	G	T	COL1A1	c.3531+10C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48264366G>T	(Likely) benign	2 labs	f61782c438
17:17697912 RAI1 C>T	17	17697912	17697912	C	T	RAI1	c.1650C>T	NM_030665.3	NP_109590.3:p.(Pro550=)	NC_000017.10:g.17697912C>T	(Likely) benign	2 labs	f62b2c2544
3:145838931 PLOD2 A>T	3	145838931	145838931	A	T	PLOD2	c.306T>A	NM_182943.2	NP_891988.1:p.(Asp102Glu)	NC_000003.11:g.145838931A>T	(Likely) benign	2 labs	f62bbc1b99
7:21778429 DNAH11 T>C	7	21778429	21778429	T	C	DNAH11				NC_000007.13:g.21778429T>C	(Likely) benign	2 labs	f634ad99a5
2:179438405 TTN C>G	2	179438405	179438405	C	G	TTN	c.72454G>C	NM_001267550.1	NP_001254479.1:p.(Gly24152Arg)	NC_000002.11:g.179438405C>G	VUS	2 labs	f642a42289
1:152276164 FLG C>A	1	152276164	152276164	C	A	FLG	c.11198G>T	NM_002016.1	NP_002007.1:p.(Gly3733Val)	NC_000001.10:g.152276164C>A	(Likely) benign	2 labs	f6472a042d
17:73969706 ACOX1 C>T	17	73969706	73969706	C	T	ACOX1	c.430G>A	NM_007292.5	NP_009223.2:p.(Gly144Arg)	NC_000017.10:g.73969706C>T	VUS	2 labs	f647409df8
19:13411482 CACNA1A G>A	19	13411482	13411482	G	A	CACNA1A	c.2185-12C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13411482G>A	(Likely) benign	4 labs	f64deb581b
6:32032620 TNXB G>A	6	32032620	32032620	G	A	TNXB	c.6819C>T	NM_019105.8	NP_061978.6:p.(Pro2273=)	NC_000006.11:g.32032620G>A	(Likely) benign	3 labs	f6481f0eb1
6:36652129 CDKN1A G>A	6	36652129	36652129	G	A	CDKN1A	c.251G>A	NM_001220778.2	NP_001207707.1:p.(Arg84Gln)	NC_000006.11:g.36652129G>A	(Likely) benign	5 labs	f654bb0e4a
X:48337450 FTSJ1 C>G	X	48337450	48337450	C	G	FTSJ1	c.307C>G	NM_177439.2	NP_803188.1:p.(Gln103Glu)	NC_000023.10:g.48337450C>G	(Likely) benign	2 labs	f656d98119
16:50745583 NOD2 T>G	16	50745583	50745583	T	G	NOD2	c.1761T>G	NM_022162.1	NP_071445.1:p.(Arg587=)	NC_000016.9:g.50745583T>G	(Likely) benign	2 labs	f6589a7b70
13:23913827 SACS G>A	13	23913827	23913827	G	A	SACS	c.4188C>T	NM_014363.5	NP_055178.3:p.(His1396=)	NC_000013.10:g.23913827G>A	(Likely) benign	2 labs	f65fb216b6
2:179398358 TTN G>A	2	179398358	179398358	G	A	TTN	c.102984C>T	NM_001267550.2	NP_001254479.2:p.(Asp34328=)	NC_000002.11:g.179398358G>A	(Likely) benign	4 labs	f660c0777d
X:100608907 BTK T>C	X	100608907	100608907	T	C	BTK	c.1803A>G	NM_001287344.1	NP_001274273.1:p.(Glu601=)	NC_000023.10:g.100608907T>C	(Likely) benign	2 labs	f663afc885
1:36932258 CSF3R G>A	1	36932258	36932258	G	A	CSF3R	c.2292C>T	NM_156039.3	NP_724781.1:p.(Ser764=)	NC_000001.10:g.36932258G>A	(Likely) benign	2 labs	f665e80901
1:109807083 CELSR2 G>A	1	109807083	109807083	G	A	CELSR2	c.5297G>A	NM_001408.2	NP_001399.1:p.(Arg1766Gln)	NC_000001.10:g.109807083G>A	VUS	2 labs	f6718aa253
11:32456562 WT1 G>A	11	32456562	32456562	G	A	WT1	c.345C>T	NM_024426.6	NP_077744.4:p.(Pro115=)	NC_000011.9:g.32456562G>A	(Likely) benign	3 labs	f67463dc3b
19:2251137 AMH C>G	19	2251137	2251137	C	G	AMH	c.864C>G	NM_000479.5	NP_000470.3:p.(Asp288Glu)	NC_000019.9:g.2251137C>G	VUS	2 labs	f68941438c
X:49114183 FOXP3 G>A	X	49114183	49114183	G	A	FOXP3	c.253C>T	NM_014009.3	NP_054728.2:p.(Arg85Trp)	NC_000023.10:g.49114183G>A	VUS	2 labs	f68183c4dc
7:73459565 ELN C>A	7	73459565	73459565	C	A	ELN	c.483C>A	NM_001278939.1	NP_001265868.1:p.(Pro161=)	NC_000007.13:g.73459565C>A	(Likely) benign	2 labs	f68bd4f35e
1:161761203 ATF6 G>A	1	161761203	161761203	G	A	ATF6	c.360G>A	NM_007348.4	NP_031374.2:p.(Glu120=)	NC_000001.10:g.161761203G>A	(Likely) benign	2 labs	f68feba5f0
11:614799 IRF7 C>T	11	614799	614799	C	T	IRF7	c.431G>A	NM_004031.3	NP_004022.2:p.(Arg144Gln)	NC_000011.9:g.614799C>T	(Likely) benign	2 labs	f6a7d849f9
7:142460801 PRSS1 A>G	7	142460801	142460801	A	G	PRSS1	c.674A>G	NM_002769.4	NP_002760.1:p.(Lys225Arg)	NC_000007.13:g.142460801A>G	(Likely) benign	2 labs	f6abae5b02
2:29497967 ALK G>A	2	29497967	29497967	G	A	ALK	c.2039C>T	NM_004304.5	NP_004295.2:p.(Thr680Ile)	NC_000002.11:g.29497967G>A	(Likely) benign	2 labs	f6a3ffc116
5:127611731 FBN2 T>C	5	127611731	127611731	T	C	FBN2	c.7593A>G	NM_001999.4	NP_001990.2:p.(Lys2531=)	NC_000005.9:g.127611731T>C	(Likely) benign	3 labs	f6aaa12ad7
19:33467575 FAAP24 C>T	19	33467575	33467575	C	T	FAAP24	c.635C>T	NM_152266.5	NP_689479.1:p.(Thr212Met)	NC_000019.9:g.33467575C>T	VUS	2 labs	f6b50a0585
7:157160110 DNAJB6 C>T	7	157160110	157160110	C	T	DNAJB6	c.279C>T	NM_058246.3	NP_490647.1:p.(Phe93=)	NC_000007.13:g.157160110C>T	(Likely) benign	3 labs	f6b55db1a7
7:19156765 TWIST1 G>A	7	19156765	19156765	G	A	TWIST1	c.180C>T	NM_000474.4	NP_000465.1:p.(Val60=)	NC_000007.13:g.19156765G>A	(Likely) benign	2 labs	f6af4734c4
19:50366007 PNKP G>A	19	50366007	50366007	G	A	PNKP	c.817-12C>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50366007G>A	(Likely) benign	2 labs	f6c8391ff4
11:17552955 USH1C C>CG	11	17552955	17552961	C	CG	USH1C	c.238dup	NM_153676.3	NP_710142.1:p.(Arg80ProfsTer69)	NC_000011.9:g.17552961dup	(Likely) pathogenic	2 labs	f6cbaec8e6
2:179426406 TTN T>C	2	179426406	179426406	T	C	TTN	c.84453A>G	NM_001267550.2	NP_001254479.2:p.(Pro28151=)	NC_000002.11:g.179426406T>C	(Likely) benign	5 labs	f6cc96faa2
X:136112942 GPR101 C>T	X	136112942	136112942	C	T	GPR101	c.892G>A	NM_054021.1	NP_473362.1:p.(Val298Ile)	NC_000023.10:g.136112942C>T	(Likely) benign	2 labs	f6d09a30bd
22:24717518 SPECC1L G>A	22	24717518	24717518	G	A	SPECC1L	c.570G>A	NM_015330.6	NP_056145.5:p.(Thr190=)	NC_000022.10:g.24717518G>A	(Likely) benign	2 labs	f6e2aa316f
15:75183878 MPI C>T	15	75183878	75183878	C	T	MPI	c.303C>T	NM_002435.3	NP_002426.1:p.(Leu101=)	NC_000015.9:g.75183878C>T	(Likely) benign	2 labs	f6f06a6a7e
19:11325084 DOCK6 G>A	19	11325084	11325084	G	A	DOCK6	c.4205C>T	NM_020812.3	NP_065863.2:p.(Thr1402Met)	NC_000019.9:g.11325084G>A	(Likely) benign	2 labs	f7115b4f0e
2:166852553 SCN1A T>C	2	166852553	166852553	T	C	SCN1A	c.4551A>G	NM_001165963.2	NP_001159435.1:p.(Lys1517=)	NC_000002.11:g.166852553T>C	(Likely) benign	2 labs	f71634fcd4
2:227875202 COL4A4 A>G	2	227875202	227875202	A	G	COL4A4	c.4349T>C	NM_000092.4	NP_000083.3:p.(Ile1450Thr)	NC_000002.11:g.227875202A>G	(Likely) benign	2 labs	f7177459ac
17:29562747 NF1 G>A	17	29562747	29562747	G	A	NF1	c.3827G>A	NM_000267.3	NP_000258.1:p.(Arg1276Gln)	NC_000017.10:g.29562747G>A	(Likely) pathogenic	2 labs	f7216137e3
1:237058770 MTR C>T	1	237058770	237058770	C	T	MTR	c.3518C>T	NM_000254.2	NP_000245.2:p.(Pro1173Leu)	NC_000001.10:g.237058770C>T	(Likely) pathogenic	2 labs	f725e89737
11:6636430 TPP1 A>C	11	6636430	6636430	A	C	TPP1	c.1397T>G	NM_000391.4	NP_000382.3:p.(Val466Gly)	NC_000011.9:g.6636430A>C	(Likely) pathogenic	4 labs	f73688eecc
X:111000935 ALG13 A>G	X	111000935	111000935	A	G	ALG13	c.2859A>G	NM_001257231.1	NP_001244160.1:p.(Gln953=)	NC_000023.10:g.111000935A>G	(Likely) benign	2 labs	f75b7f54f9
5:94857831 SKIC3 G>A	5	94857831	94857831	G	A	SKIC3	c.1938C>T	NM_014639.3	NP_055454.1:p.(Gly646=)	NC_000005.9:g.94857831G>A	VUS	2 labs	f7622df49d
16:1574863 IFT140 G>A	16	1574863	1574863	G	A	IFT140	c.2919C>T	NM_014714.4	NP_055529.2:p.(Ala973=)	NC_000016.9:g.1574863G>A	(Likely) benign	2 labs	f78202af3c
13:32929040 BRCA2 C>T	13	32929040	32929040	C	T	BRCA2	c.7050C>T	NM_000059.3	NP_000050.2:p.(Thr2350=)	NC_000013.10:g.32929040C>T	(Likely) benign	4 labs	f78ec13e13
5:56155628 MAP3K1 G>A	5	56155628	56155628	G	A	MAP3K1	c.720G>A	NM_005921.1	NP_005912.1:p.(Ala240=)	NC_000005.9:g.56155628G>A	(Likely) benign	2 labs	f79bb1dc4c
9:131360724 SPTAN1 G>A	9	131360724	131360724	G	A	SPTAN1	c.3460G>A	NM_001130438.3	NP_001123910.1:p.(Ala1154Thr)	NC_000009.11:g.131360724G>A	VUS	2 labs	f79eac62a2
9:446401 DOCK8 A>G	9	446401	446401	A	G	DOCK8	c.5612A>G	NM_203447.4	NP_982272.2:p.(Tyr1871Cys)	NC_000009.11:g.446401A>G	VUS	2 labs	f7a1aaaff6
10:88683122 BMPR1A T>C	10	88683122	88683122	T	C	BMPR1A	c.1343-11T>C	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88683122T>C	(Likely) benign	2 labs	f7a2f38ea1
9:126134566 CRB2 C>T	9	126134566	126134566	C	T	CRB2	c.2547C>T	NM_173689.6	NP_775960.4:p.(Pro849=)	NC_000009.11:g.126134566C>T	(Likely) benign	2 labs	f7a991980d
2:136873341 CXCR4 T>G	2	136873341	136873341	T	G	CXCR4	c.169A>C	NM_001008540.2	NP_001008540.1:p.(Ile57Leu)	NC_000002.11:g.136873341T>G	(Likely) benign	2 labs	f7b2ef8c6a
12:7045936 ATN1 G>GCAT	12	7045936	7045941	G	GCAT	ATN1	c.1509_1511dup	NM_001007026.2	NP_001007027.1:p.(His504dup)	NC_000012.11:g.7045939_7045941dup	(Likely) benign	2 labs	f7b1dbfb27
6:99831610 COQ3 G>A	6	99831610	99831610	G	A	COQ3	c.197C>T	NM_017421.4	NP_059117.3:p.(Thr66Met)	NC_000006.11:g.99831610G>A	(Likely) benign	2 labs	f7bb8e5649
1:47746430 STIL G>A	1	47746430	47746430	G	A	STIL	c.1700C>T	NM_001048166.1	NP_001041631.1:p.(Pro567Leu)	NC_000001.10:g.47746430G>A	VUS	2 labs	f7bcabcaaf
X:49067862 CACNA1F C>T	X	49067862	49067862	C	T	CACNA1F	c.4213G>A	NM_005183.4	NP_005174.2:p.(Gly1405Ser)	NC_000023.10:g.49067862C>T	(Likely) benign	2 labs	f7bf6692e5
1:22222455 HSPG2 G>T	1	22222455	22222455	G	T	HSPG2	c.204C>A	NM_001291860.1	NP_001278789.1:p.(Asp68Glu)	NC_000001.10:g.22222455G>T	(Likely) benign	2 labs	f7cab172ba
1:183532666 NCF2 T>A	1	183532666	183532666	T	A	NCF2	c.1081A>T	NM_000433.3	NP_000424.2:p.(Thr361Ser)	NC_000001.10:g.183532666T>A	VUS	2 labs	f7d090d899
17:78164674 CARD14 C>T	17	78164674	78164674	C	T	CARD14	c.1065C>T	NM_024110.4	NP_077015.2:p.(Cys355=)	NC_000017.10:g.78164674C>T	(Likely) benign	2 labs	f7d315e74a
X:153418491 OPN1LW G>T	X	153418491	153418491	G	T	OPN1LW	c.488G>T	NM_020061.5	NP_064445.2:p.(Arg163Ile)	NC_000023.10:g.153418491G>T	VUS	2 labs	f7dd824652
9:139326912 INPP5E G>A	9	139326912	139326912	G	A	INPP5E	c.1387+19C>T	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139326912G>A	(Likely) benign	2 labs	f7e01aac1c
19:54395791 PRKCG C>T	19	54395791	54395791	C	T	PRKCG	c.715C>T	NM_002739.5	NP_002730.1:p.(Arg239Trp)	NC_000019.9:g.54395791C>T	VUS	3 labs	f7f2140be2
2:48018081 MSH6 A>G	2	48018081	48018081	A	G	MSH6	c.276A>G	NM_000179.3	NP_000170.1:p.(Pro92=)	NC_000002.11:g.48018081A>G	(Likely) benign	4 labs	f7f263bb24
X:62944573 ARHGEF9 T>C	X	62944573	62944573	T	C	ARHGEF9	c.28A>G	NM_015185.2	NP_056000.1:p.(Ile10Val)	NC_000023.10:g.62944573T>C	(Likely) benign	2 labs	f7f2a5ac4d
X:129270098 AIFM1 A>C	X	129270098	129270098	A	C	AIFM1	c.1227T>G	NM_004208.4	NP_004199.1:p.(Thr409=)	NC_000023.10:g.129270098A>C	(Likely) benign	2 labs	f7f7709dea
2:98994192 CNGA3 G>A	2	98994192	98994192	G	A	CNGA3	c.144G>A	NM_001298.3	NP_001289.1:p.(Pro48=)	NC_000002.11:g.98994192G>A	(Likely) benign	2 labs	f7f9a9b8e8
X:15339662 PIGA C>A	X	15339662	15339662	C	A	PIGA	c.1421G>T	NM_002641.3	NP_002632.1:p.(Gly474Val)	NC_000023.10:g.15339662C>A	(Likely) benign	2 labs	f805f63e30
1:45797534 MUTYH A>C	1	45797534	45797534	A	C	MUTYH	c.998-13T>G	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45797534A>C	(Likely) pathogenic	2 labs	f80a68c4a3
X:135754221 ARHGEF6 A>G	X	135754221	135754221	A	G	ARHGEF6	c.2093T>C	NM_004840.2	NP_004831.1:p.(Ile698Thr)	NC_000023.10:g.135754221A>G	VUS	2 labs	f80b1ff30c
17:41267740 BRCA1 T>G	17	41267740	41267740	T	G	BRCA1	c.-8+8294A>C	NM_007297.4	NP_009228.2:p.?	NC_000017.10:g.41267740T>G	(Likely) pathogenic	2 labs	f8109f1ee8
21:47841989 PCNT C>T	21	47841989	47841989	C	T	PCNT	c.7130C>T	NM_006031.5	NP_006022.3:p.(Pro2377Leu)	NC_000021.8:g.47841989C>T	(Likely) benign	2 labs	f815d2be88
2:179437928 TTN T>C	2	179437928	179437928	T	C	TTN	c.72931A>G	NM_001267550.2	NP_001254479.2:p.(Thr24311Ala)	NC_000002.11:g.179437928T>C	(Likely) benign	5 labs	f821777174
13:32918739 BRCA2 A>C	13	32918739	32918739	A	C	BRCA2	c.6886A>C	NM_000059.4	NP_000050.3:p.(Ile2296Leu)	NC_000013.10:g.32918739A>C	(Likely) benign	3 labs	f8357bcaa5
14:23853697 MYH6 T>C	14	23853697	23853697	T	C	MYH6	c.5519A>G	NM_002471.4	NP_002462.2:p.(Lys1840Arg)	NC_000014.8:g.23853697T>C	VUS	4 labs	f83c0e8ea9
15:48787697 FBN1 A>T	15	48787697	48787697	A	T	FBN1	c.2508T>A	NM_000138.5	NP_000129.3:p.(Ser836Arg)	NC_000015.9:g.48787697A>T	VUS	5 labs	f8507fa05d
10:101483828 COX15 G>A	10	101483828	101483828	G	A	COX15	c.635C>T	NM_078470.4	NP_510870.1:p.(Ser212Phe)	NC_000010.10:g.101483828G>A	VUS	2 labs	f8511bff4a
X:89177276 TGIF2LX C>A	X	89177276	89177276	C	A	TGIF2LX	c.192C>A	NM_138960.3	NP_620410.3:p.(Ile64=)	NC_000023.10:g.89177276C>A	(Likely) benign	2 labs	f8565b0623
6:152749540 SYNE1 C>T	6	152749540	152749540	C	T	SYNE1	c.4789-13G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152749540C>T	(Likely) benign	2 labs	f8576e354f
5:90074281 ADGRV1 A>G	5	90074281	90074281	A	G	ADGRV1	c.12704A>G	NM_032119.4	NP_115495.3:p.(Tyr4235Cys)	NC_000005.9:g.90074281A>G	VUS	2 labs	f858d80693
6:31918943 CFB G>A	6	31918943	31918943	G	A	CFB	c.1878G>A	NM_001710.5	NP_001701.2:p.(Gln626=)	NC_000006.11:g.31918943G>A	(Likely) benign	2 labs	f862c0ba37
12:32908274 YARS2 T>G	12	32908274	32908274	T	G	YARS2	c.535A>C	NM_001040436.2	NP_001035526.1:p.(Lys179Gln)	NC_000012.11:g.32908274T>G	(Likely) benign	2 labs	f86b40a893
15:48780628 FBN1 C>T	15	48780628	48780628	C	T	FBN1	c.3145G>A	NM_000138.4	NP_000129.3:p.(Gly1049Ser)	NC_000015.9:g.48780628C>T	VUS	3 labs	f876e2e96a
15:48559858 SLC12A1 C>T	15	48559858	48559858	C	T	SLC12A1	c.2255C>T	NM_000338.2	NP_000329.2:p.(Ala752Val)	NC_000015.9:g.48559858C>T	(Likely) benign	2 labs	f87973a3ab
2:179438866 TTN C>T	2	179438866	179438866	C	T	TTN	c.71993G>A	NM_001267550.2	NP_001254479.2:p.(Arg23998His)	NC_000002.11:g.179438866C>T	(Likely) benign	4 labs	f88245ecad
11:17464281 ABCC8 T>C	11	17464281	17464281	T	C	ABCC8	c.1616A>G	NM_001351295.1	NP_001338224.1:p.(Tyr539Cys)	NC_000011.9:g.17464281T>C	VUS	2 labs	f88ab943d6
8:48882351 MCM4 C>T	8	48882351	48882351	C	T	MCM4	c.1175-7C>T	NM_005914.4	NP_005905.2:p.?	NC_000008.10:g.48882351C>T	(Likely) benign	2 labs	f88c51a0dc
15:43895586 STRC C>T	15	43895586	43895586	C	T	STRC	c.4399G>A	NM_153700.2	NP_714544.1:p.(Val1467Ile)	NC_000015.9:g.43895586C>T	(Likely) benign	2 labs	f88daa82e0
7:107302088 SLC26A4 T>C	7	107302088	107302088	T	C	SLC26A4	c.2T>C	NM_000441.1	NP_000432.1:p.(Met1?)	NC_000007.13:g.107302088T>C	(Likely) pathogenic	2 labs	f88f942edf
13:32900222 BRCA2 CTTTGT>C	13	32900222	32900230	CTTTGT	C	BRCA2	c.426-12_426-8del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900226_32900230del	VUS	2 labs	f89330cd79
16:81965178 PLCG2 G>A	16	81965178	81965178	G	A	PLCG2	c.2658G>A	NM_002661.3	NP_002652.2:p.(Val886=)	NC_000016.9:g.81965178G>A	(Likely) benign	2 labs	f89e8a76bb
16:56545120 BBS2 T>C	16	56545120	56545120	T	C	BBS2	c.422A>G	NM_031885.3	NP_114091.3:p.(Asn141Ser)	NC_000016.9:g.56545120T>C	VUS	2 labs	f8a1f6a894
7:151878109 KMT2C G>A	7	151878109	151878109	G	A	KMT2C	c.6836C>T	NM_170606.2	NP_733751.2:p.(Pro2279Leu)	NC_000007.13:g.151878109G>A	(Likely) benign	2 labs	f8a48425b4
7:107350627 SLC26A4 G>A	7	107350627	107350627	G	A	SLC26A4	c.2218G>A	NM_000441.2	NP_000432.1:p.(Gly740Ser)	NC_000007.13:g.107350627G>A	(Likely) benign	2 labs	f8a58f3a23
7:128486356 FLNC C>T	7	128486356	128486356	C	T	FLNC	c.3966C>T	NM_001458.5	NP_001449.3:p.(Gly1322=)	NC_000007.13:g.128486356C>T	(Likely) benign	4 labs	f8a9bf021c
2:179545788 TTN G>A	2	179545788	179545788	G	A	TTN	c.33340+18C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179545788G>A	(Likely) benign	2 labs	f8b020c9ac
17:78087041 GAA G>A	17	78087041	78087041	G	A	GAA	c.2065G>A	NM_000152.3	NP_000143.2:p.(Glu689Lys)	NC_000017.10:g.78087041G>A	(Likely) benign	3 labs	f8b9562fc0
17:78185927 SGSH A>G	17	78185927	78185927	A	G	SGSH	c.892T>C	NM_000199.5	NP_000190.1:p.(Ser298Pro)	NC_000017.10:g.78185927A>G	(Likely) pathogenic	4 labs	f8bd33f253
4:6302855 WFS1 C>G	4	6302855	6302855	C	G	WFS1	c.1333C>G	NM_006005.3	NP_005996.2:p.(Leu445Val)	NC_000004.11:g.6302855C>G	(Likely) benign	2 labs	f8c83e1152
7:4825315 AP5Z1 G>A	7	4825315	4825315	G	A	AP5Z1	c.1132G>A	NM_014855.3	NP_055670.1:p.(Gly378Arg)	NC_000007.13:g.4825315G>A	VUS	2 labs	f8cc93db6d
2:166770120 TTC21B A>G	2	166770120	166770120	A	G	TTC21B	c.2175T>C	NM_024753.5	NP_079029.3:p.(Phe725=)	NC_000002.11:g.166770120A>G	(Likely) benign	2 labs	f8d4d69cd3
X:71876073 PHKA1 T>G	X	71876073	71876073	T	G	PHKA1	c.938A>C	NM_002637.3	NP_002628.2:p.(Tyr313Ser)	NC_000023.10:g.71876073T>G	VUS	2 labs	f8d24ea26b
9:75387449 TMC1 AG>A	9	75387449	75387450	AG	A	TMC1	c.863del	NM_138691.3	NP_619636.2:p.(Ser288ThrfsTer9)	NC_000009.11:g.75387450del	(Likely) pathogenic	2 labs	f8d5c2311b
17:48072281 DLX3 C>A	17	48072281	48072281	C	A	DLX3	c.82G>T	NM_005220.2	NP_005211.1:p.(Asp28Tyr)	NC_000017.10:g.48072281C>A	(Likely) benign	2 labs	f8d5f3886e
16:8895747 PMM2 A>AG	16	8895747	8895749	A	AG	PMM2	c.160dup	NM_000303.2	NP_000294.1:p.(Glu54GlyfsTer6)	NC_000016.9:g.8895749dup	(Likely) pathogenic	2 labs	f8d89edf07
17:7918019 GUCY2D G>A	17	7918019	7918019	G	A	GUCY2D	c.2513G>A	NM_000180.3	NP_000171.1:p.(Arg838His)	NC_000017.10:g.7918019G>A	(Likely) pathogenic	2 labs	f8dfe36443
1:22181903 HSPG2 C>T	1	22181903	22181903	C	T	HSPG2	c.5894G>A	NM_001291860.1	NP_001278789.1:p.(Arg1965Lys)	NC_000001.10:g.22181903C>T	(Likely) benign	2 labs	f8e54ce23a
9:139399905 NOTCH1 G>A	9	139399905	139399905	G	A	NOTCH1	c.4443C>T	NM_017617.5	NP_060087.3:p.(Leu1481=)	NC_000009.11:g.139399905G>A	(Likely) benign	2 labs	f8e97c8fc2
11:46897434 LRP4 T>C	11	46897434	46897434	T	C	LRP4	c.3620A>G	NM_002334.3	NP_002325.2:p.(Asn1207Ser)	NC_000011.9:g.46897434T>C	(Likely) benign	3 labs	f8eacb21e5
8:27327344 CHRNA2 C>T	8	27327344	27327344	C	T	CHRNA2	c.228G>A	NM_000742.3	NP_000733.2:p.(Pro76=)	NC_000008.10:g.27327344C>T	(Likely) benign	2 labs	f8ed6e11ec
11:121023647 TECTA G>A	11	121023647	121023647	G	A	TECTA	c.4163G>A	NM_005422.2	NP_005413.2:p.(Arg1388His)	NC_000011.9:g.121023647G>A	VUS	2 labs	f8f43f59cf
6:32800429 TAP2 C>T	6	32800429	32800429	C	T	TAP2	c.1118G>A	NM_001290043.1	NP_001276972.1:p.(Arg373His)	NC_000006.11:g.32800429C>T	(Likely) benign	2 labs	f8fd4964ab
13:32930747 BRCA2 G>T	13	32930747	32930747	G	T	BRCA2	c.7617+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930747G>T	(Likely) pathogenic	6 labs	f9095e4204
4:56841022 CEP135 C>G	4	56841022	56841022	C	G	CEP135	c.1360C>G	NM_025009.4	NP_079285.2:p.(Arg454Gly)	NC_000004.11:g.56841022C>G	VUS	2 labs	f90b72ee06
11:76915186 MYO7A C>T	11	76915186	76915186	C	T	MYO7A	c.5392C>T	NM_000260.3	NP_000251.3:p.(Gln1798Ter)	NC_000011.9:g.76915186C>T	(Likely) pathogenic	2 labs	f90d5015b0
11:64508413 RASGRP2 C>A	11	64508413	64508413	C	A	RASGRP2	c.371+7G>T	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64508413C>A	(Likely) benign	2 labs	f90f472414
7:117232231 CFTR AT>A	7	117232231	117232233	AT	A	CFTR	c.2012del	NM_000492.4	NP_000483.3:p.(Leu671Ter)	NC_000007.13:g.117232233del	(Likely) pathogenic	3 labs	f91b107816
15:52611515 MYO5A G>A	15	52611515	52611515	G	A	MYO5A	c.4901C>T	NM_000259.3	NP_000250.3:p.(Thr1634Met)	NC_000015.9:g.52611515G>A	VUS	2 labs	f91a3158f4
20:44750464 CD40 T>A	20	44750464	44750464	T	A	CD40	c.57T>A	NM_001302753.1	NP_001289682.1:p.(His19Gln)	NC_000020.10:g.44750464T>A	(Likely) benign	2 labs	f9215f5bb3
4:187542356 FAT1 C>T	4	187542356	187542356	C	T	FAT1	c.5384G>A	NM_005245.3	NP_005236.2:p.(Arg1795Gln)	NC_000004.11:g.187542356C>T	(Likely) benign	2 labs	f92525d4d8
5:13701536 DNAH5 T>C	5	13701536	13701536	T	C	DNAH5	c.13348A>G	NM_001369.3	NP_001360.1:p.(Ile4450Val)	NC_000005.9:g.13701536T>C	(Likely) benign	2 labs	f928cbac80
X:73961170 NEXMIF C>T	X	73961170	73961170	C	T	NEXMIF	c.3222G>A	NM_001008537.2	NP_001008537.1:p.(Pro1074=)	NC_000023.10:g.73961170C>T	(Likely) benign	2 labs	f930034a6e
16:89816278 FANCA G>T	16	89816278	89816278	G	T	FANCA	c.3099C>A	NM_001286167.2	NP_001273096.1:p.(Asp1033Glu)	NC_000016.9:g.89816278G>T	(Likely) benign	3 labs	f939f682c3
7:103202406 RELN C>CAA	7	103202406	103202425	C	CAA	RELN	c.5211-8_5211-7dup	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103202424_103202425dup	(Likely) benign	2 labs	f942d1ca19
19:6702184 C3 G>A	19	6702184	6702184	G	A	C3	c.2394C>T	NM_000064.2	NP_000055.2:p.(Ser798=)	NC_000019.9:g.6702184G>A	(Likely) benign	2 labs	f94ac56bfb
9:107665886 ABCA1 C>A	9	107665886	107665886	C	A	ABCA1	c.66+9G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665886C>A	(Likely) benign	2 labs	f94dc09426
19:55670825 DNAAF3 T>C	19	55670825	55670825	T	C	DNAAF3	c.1077-8A>G	NM_001256716.2	NP_001243645.1:p.?	NC_000019.9:g.55670825T>C	(Likely) benign	2 labs	f955d5fd66
6:161160094 PLG T>C	6	161160094	161160094	T	C	PLG	c.1878-6T>C	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161160094T>C	(Likely) benign	2 labs	f96035184d
12:49426950 KMT2D G>A	12	49426950	49426950	G	A	KMT2D	c.11538C>T	NM_003482.3	NP_003473.3:p.(Gly3846=)	NC_000012.11:g.49426950G>A	(Likely) benign	2 labs	f9654dd4c2
6:109787476 ZBTB24 C>T	6	109787476	109787476	C	T	ZBTB24	c.1672G>A	NM_014797.2	NP_055612.2:p.(Asp558Asn)	NC_000006.11:g.109787476C>T	(Likely) benign	2 labs	f970bfd993
22:21350074 LZTR1 G>A	22	21350074	21350074	G	A	LZTR1	c.1982G>A	NM_006767.4	NP_006758.2:p.(Gly661Glu)	NC_000022.10:g.21350074G>A	VUS	3 labs	f9754cf6e1
X:1413250 CSF2RA G>A	X	1413250	1413250	G	A	CSF2RA	c.676G>A	NM_001161529.1	NP_001155001.1:p.(Val226Ile)	NC_000023.10:g.1413250G>A	(Likely) benign	2 labs	f98a9c7533
16:2160622 PKD1 C>T	16	2160622	2160622	C	T	PKD1	c.4546G>A	NM_001009944.2	NP_001009944.2:p.(Ala1516Thr)	NC_000016.9:g.2160622C>T	(Likely) benign	3 labs	f999b11d48
X:100653950 GLA T>C	X	100653950	100653950	T	C	GLA	c.640-16A>G	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100653950T>C	(Likely) benign	4 labs	f9a2e8cf3d
16:30735961 SRCAP C>T	16	30735961	30735961	C	T	SRCAP	c.5216C>T	NM_006662.2	NP_006653.2:p.(Pro1739Leu)	NC_000016.9:g.30735961C>T	VUS	2 labs	f9b9e71ec1
3:47162559 SETD2 G>A	3	47162559	47162559	G	A	SETD2	c.3567C>T	NM_014159.7	NP_054878.5:p.(Thr1189=)	NC_000003.11:g.47162559G>A	(Likely) benign	3 labs	f9b32dd1c0
19:11558380 PRKCSH G>A	19	11558380	11558380	G	A	PRKCSH	c.976G>A	NM_001289103.1	NP_001276032.1:p.(Ala326Thr)	NC_000019.9:g.11558380G>A	(Likely) benign	3 labs	f9bee7d4da
1:47882321 FOXE3 C>T	1	47882321	47882321	C	T	FOXE3	c.334C>T	NM_012186.2	NP_036318.1:p.(Pro112Ser)	NC_000001.10:g.47882321C>T	(Likely) benign	2 labs	f9bf7b115d
19:54395035 PRKCG C>T	19	54395035	54395035	C	T	PRKCG	c.637C>T	NM_002739.5	NP_002730.1:p.(Arg213Ter)	NC_000019.9:g.54395035C>T	VUS	2 labs	f9c4b5bc17
5:89947426 ADGRV1 A>G	5	89947426	89947426	A	G	ADGRV1	c.3295A>G	NM_032119.4	NP_115495.3:p.(Thr1099Ala)	NC_000005.9:g.89947426A>G	(Likely) benign	2 labs	f9c875d9c6
21:46924428 COL18A1 CCCCCCAGGCCCCCCA>C	21	46924428	46924443	CCCCCCAGGCCCCCCA	C	COL18A1	c.2827_2841del	NM_001379500.1	NP_001366429.1:p.(Pro943_Pro947del)	NC_000021.8:g.46924429_46924443del	(Likely) benign	2 labs	f9c9c36ef3
16:89611153 SPG7 C>A	16	89611153	89611153	C	A	SPG7	c.1422C>A	NM_001363850.1	NP_001350779.1:p.(His474Gln)	NC_000016.9:g.89611153C>A	VUS	2 labs	f9cd57278f
3:184039221 EIF4G1 C>G	3	184039221	184039221	C	G	EIF4G1	c.849C>G	NM_182917.4	NP_886553.3:p.(Leu283=)	NC_000003.11:g.184039221C>G	(Likely) benign	2 labs	f9d1de4746
8:145740372 RECQL4 C>G	8	145740372	145740372	C	G	RECQL4	c.1568G>C	NM_004260.3	NP_004251.3:p.(Ser523Thr)	NC_000008.10:g.145740372C>G	VUS	2 labs	f9d8d6d177
12:57501508 STAT6 G>A	12	57501508	57501508	G	A	STAT6	c.135C>T	NM_001178078.1	NP_001171549.1:p.(Ser45=)	NC_000012.11:g.57501508G>A	(Likely) benign	2 labs	f9dbb3df96
3:49866894 TRAIP C>A	3	49866894	49866894	C	A	TRAIP	c.1284G>T	NM_005879.3	NP_005870.2:p.(Gln428His)	NC_000003.11:g.49866894C>A	VUS	2 labs	f9dccc8f42
20:33077683 ITCH C>T	20	33077683	33077683	C	T	ITCH	c.2394C>T	NM_001324197.1	NP_001311126.1:p.(Ile798=)	NC_000020.10:g.33077683C>T	(Likely) benign	2 labs	f9de5a9e72
1:94471075 ABCA4 A>G	1	94471075	94471075	A	G	ABCA4	c.6069T>C	NM_000350.3	NP_000341.2:p.(Ile2023=)	NC_000001.10:g.94471075A>G	(Likely) benign	3 labs	f9f1578ea9
1:12378274 VPS13D C>T	1	12378274	12378274	C	T	VPS13D	c.7294C>T	NM_015378.4	NP_056193.2:p.(Arg2432Cys)	NC_000001.10:g.12378274C>T	(Likely) benign	2 labs	fa026fce19
10:73472494 CDH23 A>G	10	73472494	73472494	A	G	CDH23	c.3293A>G	NM_022124.5	NP_071407.4:p.(Asn1098Ser)	NC_000010.10:g.73472494A>G	(Likely) benign	3 labs	fa001a3735
3:123457869 MYLK T>C	3	123457869	123457869	T	C	MYLK	c.463A>G	NM_053025.4	NP_444253.3:p.(Ile155Val)	NC_000003.11:g.123457869T>C	VUS	2 labs	fa0754e2d8
5:169509815 DOCK2 G>T	5	169509815	169509815	G	T	DOCK2	c.5446G>T	NM_004946.3	NP_004937.1:p.(Ala1816Ser)	NC_000005.9:g.169509815G>T	(Likely) benign	2 labs	fa08034ae2
2:227958939 COL4A4 A>G	2	227958939	227958939	A	G	COL4A4	c.1271T>C	NM_000092.4	NP_000083.3:p.(Ile424Thr)	NC_000002.11:g.227958939A>G	(Likely) benign	3 labs	fa0f61a8e3
6:152665261 SYNE1 C>A	6	152665261	152665261	C	A	SYNE1	c.12180G>T	NM_182961.4	NP_892006.3:p.(Glu4060Asp)	NC_000006.11:g.152665261C>A	(Likely) benign	3 labs	fa0988d540
17:57762475 CLTC G>A	17	57762475	57762475	G	A	CLTC	c.4505G>A	NM_001288653.2	NP_001275582.1:p.(Arg1502His)	NC_000017.10:g.57762475G>A	(Likely) benign	2 labs	fa137319d8
8:90970935 NBN G>A	8	90970935	90970935	G	A	NBN	c.1124+18C>T	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90970935G>A	(Likely) benign	3 labs	fa17055494
5:127597510 FBN2 G>A	5	127597510	127597510	G	A	FBN2	c.8282C>T	NM_001999.3	NP_001990.2:p.(Ala2761Val)	NC_000005.9:g.127597510G>A	(Likely) benign	2 labs	fa22084816
11:62396763 GANAB G>C	11	62396763	62396763	G	C	GANAB	c.1116C>G	NM_001329224.1	NP_001316153.1:p.(Ala372=)	NC_000011.9:g.62396763G>C	(Likely) benign	2 labs	fa26d413f8
2:98354490 ZAP70 C>T	2	98354490	98354490	C	T	ZAP70	c.1656C>T	NM_001079.3	NP_001070.2:p.(Ile552=)	NC_000002.11:g.98354490C>T	(Likely) benign	2 labs	fa27cac569
11:118353218 KMT2A G>C	11	118353218	118353218	G	C	KMT2A	c.4086+8G>C	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118353218G>C	(Likely) benign	2 labs	fa2d616c32
16:2152574 PKD1 C>T	16	2152574	2152574	C	T	PKD1	c.9009G>A	NM_001009944.2	NP_001009944.2:p.(Ala3003=)	NC_000016.9:g.2152574C>T	(Likely) benign	2 labs	fa33104b32
21:47614450 LSS T>A	21	47614450	47614450	T	A	LSS	c.1703A>T	NM_001145437.1	NP_001138909.1:p.(Gln568Leu)	NC_000021.8:g.47614450T>A	VUS	2 labs	fa5d42ad71
1:11082521 TARDBP A>G	1	11082521	11082521	A	G	TARDBP	c.1055A>G	NM_007375.4	NP_031401.1:p.(Asn352Ser)	NC_000001.10:g.11082521A>G	(Likely) pathogenic	4 labs	fa2c582e9e
12:112892400 PTPN11 G>T	12	112892400	112892400	G	T	PTPN11	c.558G>T	NM_002834.3	NP_002825.3:p.(Arg186=)	NC_000012.11:g.112892400G>T	(Likely) benign	3 labs	fa3dae2d2a
11:17552978 USH1C C>T	11	17552978	17552978	C	T	USH1C	c.216G>A	NM_153676.3	NP_710142.1:p.(Val72=)	NC_000011.9:g.17552978C>T	(Likely) pathogenic	2 labs	fa470e6b12
6:49407969 MMUT T>C	6	49407969	49407969	T	C	MMUT	c.1906A>G	NM_000255.3	NP_000246.2:p.(Thr636Ala)	NC_000006.11:g.49407969T>C	VUS	2 labs	fa4db4e1ec
3:132400806 NPHP3 C>G	3	132400806	132400806	C	G	NPHP3	c.3941G>C	NM_153240.5	NP_694972.3:p.(Ser1314Thr)	NC_000003.11:g.132400806C>G	(Likely) benign	4 labs	fa46fa7b04
7:21893993 DNAH11 G>T	7	21893993	21893993	G	T	DNAH11	c.11122G>T	NM_001277115.2	NP_001264044.1:p.(Val3708Leu)	NC_000007.13:g.21893993G>T	(Likely) benign	2 labs	fa538f0ce7
16:731318 STUB1 G>A	16	731318	731318	G	A	STUB1	c.326G>A	NM_005861.3	NP_005852.2:p.(Ser109Asn)	NC_000016.9:g.731318G>A	(Likely) benign	3 labs	fa5611bb50
22:38370180 SOX10 A>T	22	38370180	38370180	A	T	SOX10	c.723T>A	NM_006941.3	NP_008872.1:p.(Pro241=)	NC_000022.10:g.38370180A>T	(Likely) benign	2 labs	fa632094b0
2:28999810 PPP1CB C>G	2	28999810	28999810	C	G	PPP1CB	c.146C>G	NM_206876.2	NP_996759.1:p.(Pro49Arg)	NC_000002.11:g.28999810C>G	(Likely) pathogenic	4 labs	fa6c8f34b5
1:160094176 ATP1A2 C>T	1	160094176	160094176	C	T	ATP1A2				NC_000001.10:g.160094176C>T	VUS	2 labs	fa67193adf
19:45856059 ERCC2 C>G	19	45856059	45856059	C	G	ERCC2	c.1847G>C	NM_000400.4	NP_000391.1:p.(Arg616Pro)	NC_000019.9:g.45856059C>G	(Likely) pathogenic	2 labs	fa78442d12
3:45780084 SACM1L C>G	3	45780084	45780084	C	G	SACM1L	c.1088C>G	NM_001319073.1	NP_001306002.1:p.(Thr363Ser)	NC_000003.11:g.45780084C>G	VUS	2 labs	fa788a83c4
7:6022626 PMS2 C>T	7	6022626	6022626	C	T	PMS2	c.2007-4G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022626C>T	(Likely) benign	4 labs	fa7ec0d1a2
3:148916235 CP T>A	3	148916235	148916235	T	A	CP	c.1632A>T	NM_000096.4	NP_000087.2:p.(Glu544Asp)	NC_000003.11:g.148916235T>A	(Likely) benign	3 labs	fa84603337
4:151773363 LRBA T>C	4	151773363	151773363	T	C	LRBA	c.3499A>G	NM_001199282.2	NP_001186211.2:p.(Thr1167Ala)	NC_000004.11:g.151773363T>C	(Likely) benign	2 labs	fa81e5b6a7
2:51253510 NRXN1 TTC>T	2	51253510	51253513	TTC	T	NRXN1	c.868_869del	NM_001135659.3	NP_001129131.1:p.(Glu290LysfsTer18)	NC_000002.11:g.51253512_51253513del	(Likely) pathogenic	2 labs	fa8bccfc05
1:40539750 PPT1 T>C	1	40539750	40539750	T	C	PPT1	c.904A>G	NM_000310.4	NP_000301.1:p.(Ile302Val)	NC_000001.10:g.40539750T>C	(Likely) benign	3 labs	fa9196f68e
21:47766113 PCNT T>G	21	47766113	47766113	T	G	PCNT	c.711T>G	NM_006031.5	NP_006022.3:p.(His237Gln)	NC_000021.8:g.47766113T>G	(Likely) benign	2 labs	faa4f65486
2:179400360 TTN C>T	2	179400360	179400360	C	T	TTN	c.100982G>A	NM_001267550.2	NP_001254479.2:p.(Arg33661Lys)	NC_000002.11:g.179400360C>T	(Likely) benign	3 labs	fa9c4a1f85
1:2235850 SKI T>C	1	2235850	2235850	T	C	SKI	c.1593T>C	NM_003036.4	NP_003027.1:p.(Pro531=)	NC_000001.10:g.2235850T>C	(Likely) benign	2 labs	faa15e62a8
3:8787298 CAV3 C>A	3	8787298	8787298	C	A	CAV3	c.201C>A	NM_033337.2	NP_203123.1:p.(Val67=)	NC_000003.11:g.8787298C>A	(Likely) benign	3 labs	faaad6f271
1:20977000 PINK1 A>C	1	20977000	20977000	A	C	PINK1	c.1562A>C	NM_032409.3	NP_115785.1:p.(Asn521Thr)	NC_000001.10:g.20977000A>C	(Likely) benign	4 labs	faafa200f4
15:49044538 CEP152 C>G	15	49044538	49044538	C	G	CEP152	c.3466+8G>C	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49044538C>G	(Likely) benign	2 labs	fab4d5a89a
8:55542638 RP1 G>A	8	55542638	55542638	G	A	RP1	c.6196G>A	NM_006269.1	NP_006260.1:p.(Asp2066Asn)	NC_000008.10:g.55542638G>A	VUS	2 labs	fab7d56227
11:6653747 DCHS1 C>T	11	6653747	6653747	C	T	DCHS1				NC_000011.9:g.6653747C>T	(Likely) benign	2 labs	face4274c3
6:152555112 SYNE1 C>T	6	152555112	152555112	C	T	SYNE1	c.20530-14G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152555112C>T	(Likely) benign	4 labs	fad3705181
16:2156190 PKD1 G>A	16	2156190	2156190	G	A	PKD1	c.7605C>T	NM_001009944.2	NP_001009944.2:p.(Tyr2535=)	NC_000016.9:g.2156190G>A	(Likely) benign	3 labs	fade641d9d
7:21737740 DNAH11 T>C	7	21737740	21737740	T	C	DNAH11				NC_000007.13:g.21737740T>C	VUS	2 labs	fae4e49ad8
14:105174052 INF2 C>T	14	105174052	105174052	C	T	INF2	c.1448C>T	NM_022489.3	NP_071934.3:p.(Ser483Phe)	NC_000014.8:g.105174052C>T	(Likely) benign	2 labs	fae676eec8
6:146755140 GRM1 G>A	6	146755140	146755140	G	A	GRM1	c.2793G>A	NM_001278064.2	NP_001264993.1:p.(Lys931=)	NC_000006.11:g.146755140G>A	(Likely) benign	2 labs	fb00317943
11:47365206 MYBPC3 C>T	11	47365206	47365206	C	T	MYBPC3	c.1091-31G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365206C>T	(Likely) benign	2 labs	fb08cbb028
19:13409472 CACNA1A T>A	19	13409472	13409472	T	A	CACNA1A	c.2987A>T	NM_023035.3	NP_075461.2:p.(Glu996Val)	NC_000019.9:g.13409472T>A	(Likely) benign	4 labs	fb0dbedf8f
3:14174059 TMEM43 G>A	3	14174059	14174059	G	A	TMEM43	c.406G>A	NM_024334.3	NP_077310.1:p.(Asp136Asn)	NC_000003.11:g.14174059G>A	(Likely) benign	2 labs	fb0d461de1
15:48802279 FBN1 G>A	15	48802279	48802279	G	A	FBN1	c.1676C>T	NM_000138.4	NP_000129.3:p.(Ala559Val)	NC_000015.9:g.48802279G>A	VUS	2 labs	fb2412a959
18:29126653 DSG2 A>G	18	29126653	29126653	A	G	DSG2	c.3304A>G	NM_001943.3	NP_001934.2:p.(Thr1102Ala)	NC_000018.9:g.29126653A>G	(Likely) benign	2 labs	fb2b7829bb
16:50750810 NOD2 A>G	16	50750810	50750810	A	G	NOD2	c.2555A>G	NM_022162.1	NP_071445.1:p.(Asn852Ser)	NC_000016.9:g.50750810A>G	(Likely) benign	2 labs	fb2b99255d
1:43395622 SLC2A1 A>C	1	43395622	43395622	A	C	SLC2A1	c.601T>G	NM_006516.3	NP_006507.2:p.(Cys201Gly)	NC_000001.10:g.43395622A>C	VUS	2 labs	fb2f5f0aa1
22:24133967 SMARCB1 C>T	22	24133967	24133967	C	T	SMARCB1	c.118C>T	NM_003073.3	NP_003064.2:p.(Arg40Ter)	NC_000022.10:g.24133967C>T	(Likely) pathogenic	2 labs	fb30fa4544
11:6631386 ILK G>C	11	6631386	6631386	G	C	ILK	c.1086G>C	NM_004517.2	NP_004508.1:p.(Gln362His)	NC_000011.9:g.6631386G>C	VUS	2 labs	fb355cb2b3
8:6302971 MCPH1 C>T	8	6302971	6302971	C	T	MCPH1	c.1728C>T	NM_024596.4	NP_078872.2:p.(Gly576=)	NC_000008.10:g.6302971C>T	(Likely) benign	2 labs	fb4755c469
17:29556079 NF1 C>T	17	29556079	29556079	C	T	NF1	c.2446C>T	NM_000267.3	NP_000258.1:p.(Arg816Ter)	NC_000017.10:g.29556079C>T	(Likely) pathogenic	3 labs	fb4a1ada90
12:64174881 RXYLT1 C>T	12	64174881	64174881	C	T	RXYLT1	c.252C>T	NM_014254.2	NP_055069.1:p.(Ser84=)	NC_000012.11:g.64174881C>T	(Likely) benign	2 labs	fb4f2a7077
10:102768383 PDZD7 A>G	10	102768383	102768383	A	G	PDZD7	c.2943T>C	NM_001195263.2	NP_001182192.1:p.(Asp981=)	NC_000010.10:g.102768383A>G	(Likely) benign	2 labs	fb52fe16d3
12:49689009 PRPH G>A	12	49689009	49689009	G	A	PRPH	c.26G>A	NM_006262.3	NP_006253.2:p.(Arg9Gln)	NC_000012.11:g.49689009G>A	(Likely) benign	2 labs	fb569e775f
3:167510472 SERPINI1 G>A	3	167510472	167510472	G	A	SERPINI1	c.576G>A	NM_005025.5	NP_005016.1:p.(Ser192=)	NC_000003.11:g.167510472G>A	(Likely) benign	2 labs	fb5515e7d1
3:38524058 ACVR2B G>T	3	38524058	38524058	G	T	ACVR2B	c.1344+7G>T	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38524058G>T	(Likely) benign	2 labs	fb5bac6526
14:77493647 IRF2BPL A>AGCGGCG	14	77493647	77493676	A	AGCGGCG	IRF2BPL	c.483_488dup	NM_024496.4	NP_078772.1:p.(Ala163_Ala164dup)	NC_000014.8:g.77493671_77493676dup	(Likely) benign	3 labs	fb666d82cd
5:112116528 APC T>C	5	112116528	112116528	T	C	APC				NC_000005.9:g.112116528T>C	(Likely) benign	2 labs	fb5f354ceb
7:781078 DNAAF5 A>C	7	781078	781078	A	C	DNAAF5	c.1000A>C	NM_017802.3	NP_060272.3:p.(Thr334Pro)	NC_000007.13:g.781078A>C	(Likely) benign	2 labs	fb65853f6a
8:43047593 HGSNAT G>A	8	43047593	43047593	G	A	HGSNAT	c.1377+20G>A	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43047593G>A	(Likely) benign	3 labs	fb5c78f969
17:41251811 BRCA1 C>T	17	41251811	41251811	C	T	BRCA1	c.528G>A	NM_007294.3	NP_009225.1:p.(Thr176=)	NC_000017.10:g.41251811C>T	(Likely) benign	4 labs	fb6773a363
10:6061407 IL2RA T>C	10	6061407	6061407	T	C	IL2RA	c.711A>G	NM_000417.2	NP_000408.1:p.(Thr237=)	NC_000010.10:g.6061407T>C	(Likely) benign	2 labs	fb6f466230
1:235937250 LYST C>T	1	235937250	235937250	C	T	LYST	c.5676G>A	NM_001301365.1	NP_001288294.1:p.(Met1892Ile)	NC_000001.10:g.235937250C>T	(Likely) benign	2 labs	fb74134e3e
4:79254418 FRAS1 T>TC	4	79254418	79254423	T	TC	FRAS1	c.2138-3dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79254423dup	(Likely) benign	2 labs	fb79b40020
7:138400635 ATP6V0A4 C>T	7	138400635	138400635	C	T	ATP6V0A4	c.2140-9G>A	NM_020632.2	NP_065683.2:p.?	NC_000007.13:g.138400635C>T	(Likely) benign	2 labs	fb7bf3bc3c
9:136521738 DBH G>A	9	136521738	136521738	G	A	DBH	c.1528G>A	NM_000787.4	NP_000778.3:p.(Gly510Ser)	NC_000009.11:g.136521738G>A	VUS	2 labs	fb853b7a69
20:3209734 SLC4A11 T>C	20	3209734	3209734	T	C	SLC4A11	c.2147+7A>G	NM_001174090.1	NP_001167561.1:p.?	NC_000020.10:g.3209734T>C	(Likely) benign	2 labs	fb7e8c088c
1:247587681 NLRP3 C>T	1	247587681	247587681	C	T	NLRP3	c.930C>T	NM_001243133.1	NP_001230062.1:p.(Asp310=)	NC_000001.10:g.247587681C>T	(Likely) benign	2 labs	fb897b550f
2:26507807 HADHB C>T	2	26507807	26507807	C	T	HADHB	c.1140C>T	NM_001281513.1	NP_001268442.1:p.(Tyr380=)	NC_000002.11:g.26507807C>T	(Likely) benign	2 labs	fb965483b5
17:17131206 FLCN G>A	17	17131206	17131206	G	A	FLCN	c.246C>T	NM_144997.5	NP_659434.2:p.(Cys82=)	NC_000017.10:g.17131206G>A	(Likely) benign	2 labs	fb9abeddfd
12:32875454 DNM1L C>T	12	32875454	32875454	C	T	DNM1L	c.1005C>T	NM_001278464.2	NP_001265393.1:p.(Tyr335=)	NC_000012.11:g.32875454C>T	(Likely) benign	2 labs	fb9738a3fa
3:38645241 SCN5A G>A	3	38645241	38645241	G	A	SCN5A	c.1852C>T	NM_001099404.2	NP_001092874.1:p.(Leu618Phe)	NC_000003.11:g.38645241G>A	(Likely) benign	3 labs	fba7ec20eb
2:179427580 TTN T>A	2	179427580	179427580	T	A	TTN	c.83279A>T	NM_001267550.1	NP_001254479.1:p.(Asn27760Ile)	NC_000002.11:g.179427580T>A	VUS	2 labs	fba40971b0
18:6950925 LAMA1 C>T	18	6950925	6950925	C	T	LAMA1	c.8253G>A	NM_005559.4	NP_005550.2:p.(Leu2751=)	NC_000018.9:g.6950925C>T	(Likely) benign	2 labs	fbb4a329e5
1:2234480 SKI G>A	1	2234480	2234480	G	A	SKI	c.1033G>A	NM_003036.4	NP_003027.1:p.(Ala345Thr)	NC_000001.10:g.2234480G>A	(Likely) benign	2 labs	fbbb37e709
1:120548100 NOTCH2 C>T	1	120548100	120548100	C	T	NOTCH2	c.267G>A	NM_024408.3	NP_077719.2:p.(Thr89=)	NC_000001.10:g.120548100C>T	(Likely) benign	2 labs	fbd359be89
6:33141678 COL11A2 C>T	6	33141678	33141678	C	T	COL11A2	c.2555G>A	NM_080680.3	NP_542411.2:p.(Arg852Gln)	NC_000006.11:g.33141678C>T	VUS	4 labs	fbd3f147bd
17:48736714 ABCC3 A>G	17	48736714	48736714	A	G	ABCC3	c.791A>G	NM_003786.4	NP_003777.2:p.(Glu264Gly)	NC_000017.10:g.48736714A>G	(Likely) benign	2 labs	fbd80b5659
7:92733727 SAMD9 C>T	7	92733727	92733727	C	T	SAMD9	c.1684G>A	NM_017654.3	NP_060124.2:p.(Ala562Thr)	NC_000007.13:g.92733727C>T	(Likely) benign	2 labs	fbd90aaac8
11:71155265 DHCR7 C>T	11	71155265	71155265	C	T	DHCR7	c.99-4G>A	NM_001360.2	NP_001351.2:p.?	NC_000011.9:g.71155265C>T	(Likely) benign	3 labs	fbda77c4fb
2:170112698 LRP2 G>C	2	170112698	170112698	G	C	LRP2	c.2688C>G	NM_004525.3	NP_004516.2:p.(His896Gln)	NC_000002.11:g.170112698G>C	VUS	3 labs	fbdefbc39b
10:73767555 CHST3 A>T	10	73767555	73767555	A	T	CHST3	c.766A>T	NM_004273.4	NP_004264.2:p.(Asn256Tyr)	NC_000010.10:g.73767555A>T	VUS	2 labs	fbe71dc9f9
7:74197326 NCF1 A>G	7	74197326	74197326	A	G	NCF1	c.496A>G	NM_000265.5	NP_000256.4:p.(Asn166Asp)	NC_000007.13:g.74197326A>G	(Likely) benign	2 labs	fbeffb06d4
17:4849268 PFN1 T>C	17	4849268	4849268	T	C	PFN1	c.350A>G	NM_005022.4	NP_005013.1:p.(Glu117Gly)	NC_000017.10:g.4849268T>C	VUS	2 labs	fbf04d66ea
1:235969667 LYST T>G	1	235969667	235969667	T	G	LYST	c.2769A>C	NM_001301365.1	NP_001288294.1:p.(Ser923=)	NC_000001.10:g.235969667T>G	(Likely) benign	2 labs	fbf4c66cf8
16:3823935 CREBBP C>G	16	3823935	3823935	C	G	CREBBP	c.2284-4G>C	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3823935C>G	(Likely) benign	2 labs	fc02337a28
2:179454355 TTN T>C	2	179454355	179454355	T	C	TTN	c.62097A>G	NM_001267550.2	NP_001254479.2:p.(Pro20699=)	NC_000002.11:g.179454355T>C	(Likely) benign	2 labs	fc2840aecf
4:187530349 FAT1 G>A	4	187530349	187530349	G	A	FAT1	c.10194C>T	NM_005245.3	NP_005236.2:p.(Leu3398=)	NC_000004.11:g.187530349G>A	(Likely) benign	2 labs	fc2495d093
13:32906817 BRCA2 C>G	13	32906817	32906817	C	G	BRCA2	c.1202C>G	NM_000059.4	NP_000050.3:p.(Ser401Ter)	NC_000013.10:g.32906817C>G	(Likely) pathogenic	3 labs	fc38779d4a
18:47788367 CFAP53 G>A	18	47788367	47788367	G	A	CFAP53	c.292C>T	NM_145020.4	NP_659457.2:p.(Arg98Ter)	NC_000018.9:g.47788367G>A	(Likely) pathogenic	2 labs	fc38d08da5
6:76576335 MYO6 A>G	6	76576335	76576335	A	G	MYO6	c.1767A>G	NM_004999.3	NP_004990.3:p.(Glu589=)	NC_000006.11:g.76576335A>G	(Likely) benign	2 labs	fc3b4e0b64
3:142284987 ATR G>A	3	142284987	142284987	G	A	ATR	c.268C>T	NM_001184.3	NP_001175.2:p.(His90Tyr)	NC_000003.11:g.142284987G>A	(Likely) benign	2 labs	fc3dcc8926
2:110959026 NPHP1 G>T	2	110959026	110959026	G	T	NPHP1	c.115C>A	NM_000272.3	NP_000263.2:p.(Pro39Thr)	NC_000002.11:g.110959026G>T	(Likely) benign	3 labs	fc429b2924
4:187629836 FAT1 G>T	4	187629836	187629836	G	T	FAT1	c.1146C>A	NM_005245.3	NP_005236.2:p.(Pro382=)	NC_000004.11:g.187629836G>T	(Likely) benign	2 labs	fc431e6237
1:237001869 MTR G>A	1	237001869	237001869	G	A	MTR	c.1485G>A	NM_000254.2	NP_000245.2:p.(Met495Ile)	NC_000001.10:g.237001869G>A	(Likely) benign	2 labs	fc4d0bc02b
8:133142193 KCNQ3 T>C	8	133142193	133142193	T	C	KCNQ3	c.1935A>G	NM_004519.3	NP_004510.1:p.(Gln645=)	NC_000008.10:g.133142193T>C	(Likely) benign	2 labs	fc5073be69
7:151257695 PRKAG2 C>T	7	151257695	151257695	C	T	PRKAG2	c.1593G>A	NM_016203.4	NP_057287.2:p.(Arg531=)	NC_000007.13:g.151257695C>T	(Likely) benign	4 labs	fc577b69ed
6:152777063 SYNE1 C>T	6	152777063	152777063	C	T	SYNE1	c.2685G>A	NM_182961.3	NP_892006.3:p.(Thr895=)	NC_000006.11:g.152777063C>T	(Likely) benign	2 labs	fc54462bb6
2:202569251 ALS2 C>T	2	202569251	202569251	C	T	ALS2	c.4764G>A	NM_020919.3	NP_065970.2:p.(Ala1588=)	NC_000002.11:g.202569251C>T	(Likely) benign	2 labs	fc5a457f93
17:17122327 FLCN G>A	17	17122327	17122327	G	A	FLCN	c.1062+6C>T	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17122327G>A	(Likely) benign	3 labs	fc5b14afcf
10:123325014 FGFR2 T>C	10	123325014	123325014	T	C	FGFR2	c.314A>G	NM_000141.4	NP_000132.3:p.(Tyr105Cys)	NC_000010.10:g.123325014T>C	(Likely) pathogenic	2 labs	fc5dddd744
6:10770421 MAK A>G	6	10770421	10770421	A	G	MAK	c.1715T>C	NM_001242957.3	NP_001229886.1:p.(Ile572Thr)	NC_000006.11:g.10770421A>G	(Likely) benign	2 labs	fc5a5b35ff
3:178937533 PIK3CA T>C	3	178937533	178937533	T	C	PIK3CA	c.1911+10T>C	NM_006218.2	NP_006209.2:p.?	NC_000003.11:g.178937533T>C	(Likely) benign	2 labs	fc5fb6cf1b
X:100653109 GLA G>A	X	100653109	100653109	G	A	GLA	c.1000-22C>T	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653109G>A	(Likely) benign	2 labs	fc65bb7ec5
2:62066830 FAM161A T>A	2	62066830	62066830	T	A	FAM161A	c.1309A>T	NM_001201543.2	NP_001188472.1:p.(Arg437Ter)	NC_000002.11:g.62066830T>A	(Likely) pathogenic	3 labs	fc6a181ad3
16:2138670 TSC2 TAA>T	16	2138670	2138673	TAA	T	TSC2	c.*61_*62del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138672_2138673del	(Likely) benign	2 labs	fc75e6b4f5
15:90172035 KIF7 G>A	15	90172035	90172035	G	A	KIF7	c.3665-18C>T	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90172035G>A	(Likely) benign	2 labs	fc7637ff70
13:20763380 GJB2 T>C	13	20763380	20763380	T	C	GJB2	c.341A>G	NM_004004.6	NP_003995.2:p.(Glu114Gly)	NC_000013.10:g.20763380T>C	(Likely) benign	3 labs	fc86031d68
18:77211722 NFATC1 G>A	18	77211722	77211722	G	A	NFATC1	c.1809G>A	NM_001278669.1	NP_001265598.1:p.(Thr603=)	NC_000018.9:g.77211722G>A	(Likely) benign	2 labs	fc81ddc1ae
14:77493646 IRF2BPL CAGCG>C	14	77493646	77493650	CAGCG	C	IRF2BPL	c.486_489del	NM_024496.4	NP_078772.1:p.(Ala163ArgfsTer15)	NC_000014.8:g.77493647_77493650del	(Likely) benign	2 labs	fc852cecf0
15:31197015 FAN1 T>G	15	31197015	31197015	T	G	FAN1	c.149T>G	NM_014967.5	NP_055782.3:p.(Met50Arg)	NC_000015.9:g.31197015T>G	VUS	2 labs	fc7c2efe45
14:51206070 NIN T>C	14	51206070	51206070	T	C	NIN	c.5584A>G	NM_020921.3	NP_065972.3:p.(Met1862Val)	NC_000014.8:g.51206070T>C	(Likely) benign	2 labs	fc8bff73d3
2:179581835 TTN C>A	2	179581835	179581835	C	A	TTN	c.25626G>T	NM_001267550.2	NP_001254479.2:p.(Gln8542His)	NC_000002.11:g.179581835C>A	(Likely) benign	3 labs	fc89971372
X:69637732 KIF4A T>C	X	69637732	69637732	T	C	KIF4A	c.3256-6T>C	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69637732T>C	(Likely) benign	2 labs	fc9a6baee6
13:32954142 BRCA2 A>G	13	32954142	32954142	A	G	BRCA2	c.9118-2A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32954142A>G	(Likely) pathogenic	2 labs	fc9de5ce5d
4:90743487 SNCA C>T	4	90743487	90743487	C	T	SNCA	c.216G>A	NM_000345.4	NP_000336.1:p.(Thr72=)	NC_000004.11:g.90743487C>T	(Likely) benign	2 labs	fca82a5c69
10:56077174 PCDH15 G>A	10	56077174	56077174	G	A	PCDH15				NC_000010.10:g.56077174G>A	(Likely) pathogenic	2 labs	fcab9be214
17:29556109 NF1 A>C	17	29556109	29556109	A	C	NF1	c.2476A>C	NM_000267.3	NP_000258.1:p.(Ile826Leu)	NC_000017.10:g.29556109A>C	VUS	2 labs	fcac716247
X:17653697 NHS C>T	X	17653697	17653697	C	T	NHS	c.11C>T	NM_001136024.3	NP_001129496.1:p.(Ala4Val)	NC_000023.10:g.17653697C>T	(Likely) benign	2 labs	fcafd1f80b
14:30108088 PRKD1 A>C	14	30108088	30108088	A	C	PRKD1	c.743T>G	NM_001330069.1	NP_001316998.1:p.(Phe248Cys)	NC_000014.8:g.30108088A>C	(Likely) benign	2 labs	fcb1c5901c
4:79460455 FRAS1 A>G	4	79460455	79460455	A	G	FRAS1	c.11306A>G	NM_025074.7	NP_079350.5:p.(Asn3769Ser)	NC_000004.11:g.79460455A>G	(Likely) benign	2 labs	fcb8aa3585
16:15814807 MYH11 G>A	16	15814807	15814807	G	A	MYH11	c.4701C>T	NM_001040113.2	NP_001035202.1:p.(Asp1567=)	NC_000016.9:g.15814807G>A	(Likely) benign	2 labs	fcc51606cf
X:49065081 CACNA1F C>G	X	49065081	49065081	C	G	CACNA1F	c.5050G>C	NM_005183.3	NP_005174.2:p.(Gly1684Arg)	NC_000023.10:g.49065081C>G	(Likely) benign	2 labs	fcd1c4c745
11:62396248 GANAB C>T	11	62396248	62396248	C	T	GANAB	c.1450G>A	NM_001329224.1	NP_001316153.1:p.(Val484Ile)	NC_000011.9:g.62396248C>T	(Likely) benign	2 labs	fcd2af5fe3
11:70338541 SHANK2 T>G	11	70338541	70338541	T	G	SHANK2	c.574A>C	NM_133266.3	NP_573573.2:p.(Lys192Gln)	NC_000011.9:g.70338541T>G	VUS	2 labs	fcda643c7e
13:20766921 GJB2 C>T	13	20766921	20766921	C	T	GJB2	c.-23+1G>A	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20766921C>T	(Likely) pathogenic	2 labs	fce630c370
15:89876827 POLG T>TTGCTGCTGC	15	89876827	89876860	T	TTGCTGCTGC	POLG	c.150_158dup	NM_002693.3	NP_002684.1:p.(Gln53_Gln55dup)	NC_000015.9:g.89876852_89876860dup	(Likely) benign	3 labs	fced6875d9
19:13409492 CACNA1A C>G	19	13409492	13409492	C	G	CACNA1A	c.2967G>C	NM_023035.2	NP_075461.2:p.(Pro989=)	NC_000019.9:g.13409492C>G	(Likely) benign	3 labs	fcf089da9d
1:7798367 CAMTA1 C>T	1	7798367	7798367	C	T	CAMTA1	c.4007C>T	NM_015215.4	NP_056030.1:p.(Thr1336Ile)	NC_000001.10:g.7798367C>T	(Likely) benign	2 labs	fcf0f6438c
1:237947219 RYR2 T>C	1	237947219	237947219	T	C	RYR2	c.12207T>C	NM_001035.3	NP_001026.2:p.(Cys4069=)	NC_000001.10:g.237947219T>C	(Likely) benign	5 labs	fd02cea011
11:67816674 TCIRG1 C>T	11	67816674	67816674	C	T	TCIRG1				NC_000011.9:g.67816674C>T	(Likely) benign	2 labs	fd10957f3b
17:18060374 MYO15A G>A	17	18060374	18060374	G	A	MYO15A	c.8708G>A	NM_016239.3	NP_057323.3:p.(Arg2903Gln)	NC_000017.10:g.18060374G>A	VUS	2 labs	fd1668fd4e
9:2646492 VLDLR A>G	9	2646492	2646492	A	G	VLDLR	c.1643A>G	NM_003383.4	NP_003374.3:p.(Lys548Arg)	NC_000009.11:g.2646492A>G	VUS	2 labs	fd1787af3e
1:152277100 FLG C>T	1	152277100	152277100	C	T	FLG	c.10262G>A	NM_002016.1	NP_002007.1:p.(Ser3421Asn)	NC_000001.10:g.152277100C>T	(Likely) benign	3 labs	fd1b052c1a
X:132888149 GPC3 T>C	X	132888149	132888149	T	C	GPC3	c.392A>G	NM_001164617.1	NP_001158089.1:p.(Lys131Arg)	NC_000023.10:g.132888149T>C	VUS	2 labs	fd1ef2c165
6:32011825 TNXB C>A	6	32011825	32011825	C	A	TNXB	c.11339G>T	NM_019105.6	NP_061978.6:p.(Arg3780Leu)	NC_000006.11:g.32011825C>A	(Likely) benign	2 labs	fd1efbc8ac
11:65638719 EFEMP2 G>A	11	65638719	65638719	G	A	EFEMP2	c.276C>T	NM_016938.5	NP_058634.4:p.(His92=)	NC_000011.9:g.65638719G>A	(Likely) benign	3 labs	fd1dcac419
3:154832893 MME C>T	3	154832893	154832893	C	T	MME	c.307C>T	NM_007289.4	NP_009220.2:p.(Arg103Cys)	NC_000003.11:g.154832893C>T	VUS	2 labs	fd1ef33592
19:36594369 WDR62 C>T	19	36594369	36594369	C	T	WDR62	c.3639C>T	NM_001083961.1	NP_001077430.1:p.(Ser1213=)	NC_000019.9:g.36594369C>T	(Likely) benign	2 labs	fd232447c4
14:94770808 SERPINA6 C>T	14	94770808	94770808	C	T	SERPINA6	c.1165G>A	NM_001756.3	NP_001747.2:p.(Asp389Asn)	NC_000014.8:g.94770808C>T	(Likely) pathogenic	2 labs	fd31f63c09
21:43162155 RIPK4 G>C	21	43162155	43162155	G	C	RIPK4	c.1198C>G	NM_020639.2	NP_065690.2:p.(Leu400Val)	NC_000021.8:g.43162155G>C	(Likely) benign	2 labs	fd39be8659
3:193336676 OPA1 C>T	3	193336676	193336676	C	T	OPA1	c.629C>T	NM_130837.2	NP_570850.2:p.(Ala210Val)	NC_000003.11:g.193336676C>T	(Likely) benign	3 labs	fd431f3df7
14:58730455 PSMA3 G>A	14	58730455	58730455	G	A	PSMA3	c.510G>A	NM_002788.4	NP_002779.1:p.(Arg170=)	NC_000014.8:g.58730455G>A	(Likely) benign	2 labs	fd496e5bf2
9:135782188 TSC1 TAG>T	9	135782188	135782192	TAG	T	TSC1	c.1366_1367del	NM_000368.5	NP_000359.1:p.(Leu456LysfsTer2)	NC_000009.11:g.135782191_135782192del	(Likely) pathogenic	2 labs	fd4b61c96a
2:202617965 ALS2 C>T	2	202617965	202617965	C	T	ALS2	c.1641G>A	NM_020919.3	NP_065970.2:p.(Arg547=)	NC_000002.11:g.202617965C>T	(Likely) benign	2 labs	fd611ae8d4
1:76226846 ACADM A>G	1	76226846	76226846	A	G	ACADM	c.985A>G	NM_000016.6	NP_000007.1:p.(Lys329Glu)	NC_000001.10:g.76226846A>G	(Likely) pathogenic	3 labs	fd7095c807
1:147380823 GJA8 T>G	1	147380823	147380823	T	G	GJA8	c.741T>G	NM_005267.4	NP_005258.2:p.(Ile247Met)	NC_000001.10:g.147380823T>G	(Likely) benign	3 labs	fd6b50c57b
13:23949252 SACS G>A	13	23949252	23949252	G	A	SACS	c.171+6C>T	NM_014363.5	NP_055178.3:p.?	NC_000013.10:g.23949252G>A	(Likely) benign	2 labs	fd6b88e505
13:32937463 BRCA2 T>G	13	32937463	32937463	T	G	BRCA2	c.8124T>G	NM_000059.4	NP_000050.3:p.(Thr2708=)	NC_000013.10:g.32937463T>G	(Likely) benign	3 labs	fd663d5fd1
X:32481546 DMD T>C	X	32481546	32481546	T	C	DMD	c.3432+10A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32481546T>C	(Likely) benign	2 labs	fd73ac60e7
8:17822137 PCM1 C>T	8	17822137	17822137	C	T	PCM1	c.2715C>T	NM_006197.3	NP_006188.3:p.(Asp905=)	NC_000008.10:g.17822137C>T	(Likely) benign	2 labs	fd721e6a22
2:179600262 TTN A>C	2	179600262	179600262	A	C	TTN	c.14911T>G	NM_001267550.2	NP_001254479.2:p.(Cys4971Gly)	NC_000002.11:g.179600262A>C	(Likely) benign	2 labs	fd71a6a431
5:89989752 ADGRV1 C>T	5	89989752	89989752	C	T	ADGRV1	c.7179C>T	NM_032119.4	NP_115495.3:p.(Asp2393=)	NC_000005.9:g.89989752C>T	(Likely) benign	4 labs	fd842c2902
14:23853809 MYH6 C>G	14	23853809	23853809	C	G	MYH6	c.5407G>C	NM_002471.3	NP_002462.2:p.(Glu1803Gln)	NC_000014.8:g.23853809C>G	VUS	2 labs	fd88114dc4
21:34799244 IFNGR2 A>C	21	34799244	34799244	A	C	IFNGR2	c.523A>C	NM_001329128.1	NP_001316057.1:p.(Ile175Leu)	NC_000021.8:g.34799244A>C	(Likely) benign	2 labs	fd8a1af33c
16:2126499 TSC2 G>A	16	2126499	2126499	G	A	TSC2	c.2750G>A	NM_000548.5	NP_000539.2:p.(Arg917Gln)	NC_000016.9:g.2126499G>A	(Likely) benign	2 labs	fd7fb85c0b
19:18979634 GDF1 C>G	19	18979634	18979634	C	G	GDF1	c.891G>C	NM_001492.5	NP_001483.3:p.(Gln297His)	NC_000019.9:g.18979634C>G	VUS	3 labs	fd8db02583
4:126372272 FAT4 A>G	4	126372272	126372272	A	G	FAT4	c.10107A>G	NM_001291303.1	NP_001278232.1:p.(Glu3369=)	NC_000004.11:g.126372272A>G	(Likely) benign	2 labs	fd960f9b8b
11:125769731 HYLS1 A>G	11	125769731	125769731	A	G	HYLS1	c.468A>G	NM_001134793.1	NP_001128265.1:p.(Leu156=)	NC_000011.9:g.125769731A>G	(Likely) benign	2 labs	fd9af58a18
5:56177843 MAP3K1 C>G	5	56177843	56177843	C	G	MAP3K1	c.2816C>G	NM_005921.1	NP_005912.1:p.(Ser939Cys)	NC_000005.9:g.56177843C>G	(Likely) benign	2 labs	fda44309c4
19:39009954 RYR1 G>A	19	39009954	39009954	G	A	RYR1	c.10119G>A	NM_000540.2	NP_000531.2:p.(Val3373=)	NC_000019.9:g.39009954G>A	(Likely) benign	3 labs	fdac1b7498
2:179582769 TTN C>A	2	179582769	179582769	C	A	TTN	c.24964G>T	NM_001267550.2	NP_001254479.2:p.(Val8322Leu)	NC_000002.11:g.179582769C>A	(Likely) benign	5 labs	fdb008e929
8:32611970 NRG1 G>T	8	32611970	32611970	G	T	NRG1	c.796G>T	NM_013956.4	NP_039250.2:p.(Val266Leu)	NC_000008.10:g.32611970G>T	(Likely) benign	2 labs	fdb9d4ab64
4:151771932 LRBA T>C	4	151771932	151771932	T	C	LRBA	c.3948A>G	NM_001199282.2	NP_001186211.2:p.(Gln1316=)	NC_000004.11:g.151771932T>C	(Likely) benign	2 labs	fdba6402ef
15:48766468 FBN1 A>G	15	48766468	48766468	A	G	FBN1	c.4194T>C	NM_000138.5	NP_000129.3:p.(Asp1398=)	NC_000015.9:g.48766468A>G	(Likely) benign	2 labs	fdbe7ffeaa
11:47362756 MYBPC3 G>A	11	47362756	47362756	G	A	MYBPC3	c.1830C>T	NM_000256.3	NP_000247.2:p.(Asp610=)	NC_000011.9:g.47362756G>A	(Likely) benign	2 labs	fdc5cccb69
2:179632515 TTN G>A	2	179632515	179632515	G	A	TTN	c.9442C>T	NM_001267550.2	NP_001254479.2:p.(Arg3148Cys)	NC_000002.11:g.179632515G>A	VUS	2 labs	fdcffcc572
1:116280971 CASQ2 G>C	1	116280971	116280971	G	C	CASQ2	c.421-15C>G	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116280971G>C	(Likely) benign	3 labs	fdd674c90b
17:76122651 TMC6 C>T	17	76122651	76122651	C	T	TMC6	c.135G>A	NM_001127198.2	NP_001120670.1:p.(Thr45=)	NC_000017.10:g.76122651C>T	(Likely) benign	2 labs	fddc62c8a6
4:6303551 WFS1 G>A	4	6303551	6303551	G	A	WFS1	c.2029G>A	NM_006005.3	NP_005996.2:p.(Ala677Thr)	NC_000004.11:g.6303551G>A	VUS	2 labs	fdf4b68aab
2:96943635 SNRNP200 G>A	2	96943635	96943635	G	A	SNRNP200	c.5664C>T	NM_014014.5	NP_054733.2:p.(His1888=)	NC_000002.11:g.96943635G>A	(Likely) benign	2 labs	fdec2f54e1
7:1515602 INTS1 G>A	7	1515602	1515602	G	A	INTS1	c.5484C>T	NM_001080453.3	NP_001073922.2:p.(Ala1828=)	NC_000007.13:g.1515602G>A	(Likely) benign	2 labs	fdefe5c014
X:49855335 CLCN5 C>T	X	49855335	49855335	C	T	CLCN5	c.2152C>T	NM_001127899.3	NP_001121371.1:p.(Arg718Ter)	NC_000023.10:g.49855335C>T	(Likely) pathogenic	2 labs	fe02899b1a
3:148896430 CP A>G	3	148896430	148896430	A	G	CP	c.2662-12T>C	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148896430A>G	(Likely) benign	3 labs	fdfa310f74
X:24382750 SUPT20HL1 A>T	X	24382750	24382750	A	T	SUPT20HL1	c.1951A>T	NM_001136234.2	NP_001129706.2:p.(Ser651Cys)	NC_000023.10:g.24382750A>T	(Likely) benign	2 labs	fe0c6bd014
6:133789728 EYA4 G>A	6	133789728	133789728	G	A	EYA4	c.829G>A	NM_004100.5	NP_004091.3:p.(Gly277Ser)	NC_000006.11:g.133789728G>A	(Likely) benign	3 labs	fe138bcc38
X:118221318 KIAA1210 A>G	X	118221318	118221318	A	G	KIAA1210	c.3875T>C	NM_020721.1	NP_065772.1:p.(Leu1292Pro)	NC_000023.10:g.118221318A>G	(Likely) benign	2 labs	fe11f59bb5
X:12632966 FRMPD4 G>A	X	12632966	12632966	G	A	FRMPD4	c.388G>A	NM_014728.3	NP_055543.2:p.(Ala130Thr)	NC_000023.10:g.12632966G>A	(Likely) benign	2 labs	fe17b23fc7
12:56749911 STAT2 A>G	12	56749911	56749911	A	G	STAT2	c.285+5T>C	NM_198332.1	NP_938146.1:p.?	NC_000012.11:g.56749911A>G	(Likely) benign	2 labs	fe24754743
X:153595772 FLNA G>A	X	153595772	153595772	G	A	FLNA	c.861C>T	NM_001110556.2	NP_001104026.1:p.(Tyr287=)	NC_000023.10:g.153595772G>A	(Likely) benign	2 labs	fe233f58d0
6:3259296 PSMG4 C>G	6	3259296	3259296	C	G	PSMG4	c.40C>G	NM_001128592.1	NP_001122064.1:p.(Leu14Val)	NC_000006.11:g.3259296C>G	(Likely) benign	2 labs	fe3f70d17e
1:12025582 PLOD1 C>T	1	12025582	12025582	C	T	PLOD1	c.1516C>T	NM_000302.3	NP_000293.2:p.(Leu506Phe)	NC_000001.10:g.12025582C>T	VUS	2 labs	fe436df54c
3:25775422 NGLY1 T>A	3	25775422	25775422	T	A	NGLY1	c.1201A>T	NM_018297.4	NP_060767.2:p.(Arg401Ter)	NC_000003.11:g.25775422T>A	(Likely) pathogenic	4 labs	fe47036225
16:15812190 MYH11 G>A	16	15812190	15812190	G	A	MYH11	c.5298C>T	NM_001040113.1	NP_001035202.1:p.(Val1766=)	NC_000016.9:g.15812190G>A	(Likely) benign	2 labs	fe4e9c9bda
X:3030328 ARSF A>C	X	3030328	3030328	A	C	ARSF	c.1504A>C	NM_001201539.1	NP_001188468.1:p.(Asn502His)	NC_000023.10:g.3030328A>C	VUS	2 labs	fe5085cb63
20:9438055 PLCB4 T>C	20	9438055	9438055	T	C	PLCB4	c.2997-6T>C	NM_001172646.1	NP_001166117.1:p.?	NC_000020.10:g.9438055T>C	(Likely) benign	2 labs	fe52ca2ed8
X:39932564 BCOR C>T	X	39932564	39932564	C	T	BCOR	c.2035G>A	NM_017745.6	NP_060215.4:p.(Val679Ile)	NC_000023.10:g.39932564C>T	(Likely) benign	5 labs	fe5ad9293b
5:13841872 DNAH5 G>A	5	13841872	13841872	G	A	DNAH5	c.5413C>T	NM_001369.2	NP_001360.1:p.(Arg1805Cys)	NC_000005.9:g.13841872G>A	VUS	2 labs	fe63ddf2a4
22:40746046 ADSL G>T	22	40746046	40746046	G	T	ADSL	c.357+7G>T	NM_000026.3	NP_000017.1:p.?	NC_000022.10:g.40746046G>T	(Likely) benign	2 labs	fe64981faa
22:19885574 TXNRD2 G>A	22	19885574	19885574	G	A	TXNRD2	c.762C>T	NM_006440.5	NP_006431.2:p.(Arg254=)	NC_000022.10:g.19885574G>A	(Likely) benign	2 labs	fe69333db8
1:216166454 USH2A T>G	1	216166454	216166454	T	G	USH2A	c.6713A>C	NM_206933.2	NP_996816.2:p.(Glu2238Ala)	NC_000001.10:g.216166454T>G	(Likely) benign	2 labs	fe6bfa26ee
14:105239894 AKT1 C>T	14	105239894	105239894	C	T	AKT1	c.726G>A	NM_001014431.2	NP_001014431.1:p.(Glu242=)	NC_000014.8:g.105239894C>T	(Likely) benign	2 labs	fe65b61127
8:96059304 NDUFAF6 A>G	8	96059304	96059304	A	G	NDUFAF6	c.663A>G	NM_152416.4	NP_689629.2:p.(Pro221=)	NC_000008.10:g.96059304A>G	(Likely) benign	2 labs	fe6c140d0e
16:23641567 PALB2 C>CT	16	23641567	23641568	C	CT	PALB2	c.1907dup	NM_024675.3	NP_078951.2:p.(Pro637AlafsTer3)	NC_000016.9:g.23641568dup	(Likely) pathogenic	2 labs	fe8a685b08
1:68912553 RPE65 A>T	1	68912553	68912553	A	T	RPE65	c.95-10T>A	NM_000329.3	NP_000320.1:p.?	NC_000001.10:g.68912553A>T	(Likely) benign	2 labs	fe828a3e8d
11:64519958 PYGM T>C	11	64519958	64519958	T	C	PYGM	c.1273A>G	NM_001164716.1	NP_001158188.1:p.(Ile425Val)	NC_000011.9:g.64519958T>C	(Likely) benign	3 labs	fe8e6d9619
8:144997849 PLEC G>A	8	144997849	144997849	G	A	PLEC	c.6659C>T	NM_201380.4	NP_958782.1:p.(Ala2220Val)	NC_000008.10:g.144997849G>A	(Likely) benign	2 labs	fe957cbdbe
13:111142038 COL4A2 G>A	13	111142038	111142038	G	A	COL4A2	c.3272-20G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111142038G>A	(Likely) benign	2 labs	fea6329727
19:45209054 CEACAM16 GC>G	19	45209054	45209057	GC	G	CEACAM16	c.859del	NM_001039213.4	NP_001034302.2:p.(Gln287ArgfsTer34)	NC_000019.9:g.45209057del	(Likely) pathogenic	2 labs	fe996a0924
X:55033719 APEX2 G>A	X	55033719	55033719	G	A	APEX2	c.1408G>A	NM_014481.3	NP_055296.2:p.(Gly470Arg)	NC_000023.10:g.55033719G>A	(Likely) benign	2 labs	fea819fe12
2:48952827 LHCGR C>T	2	48952827	48952827	C	T	LHCGR	c.371G>A	NM_000233.3	NP_000224.2:p.(Arg124Gln)	NC_000002.11:g.48952827C>T	VUS	2 labs	fead063d52
8:100791204 VPS13B A>T	8	100791204	100791204	A	T	VPS13B	c.7799A>T	NM_017890.4	NP_060360.3:p.(Asn2600Ile)	NC_000008.10:g.100791204A>T	VUS	3 labs	feb2359321
X:152969507 BCAP31 C>T	X	152969507	152969507	C	T	BCAP31	c.384G>A	NM_001139441.1	NP_001132913.1:p.(Thr128=)	NC_000023.10:g.152969507C>T	(Likely) benign	2 labs	feb44887f2
9:712110 KANK1 G>C	9	712110	712110	G	C	KANK1	c.1344G>C	NM_001256877.2	NP_001243806.1:p.(Met448Ile)	NC_000009.11:g.712110G>C	(Likely) benign	2 labs	feb9b419d1
4:6303022 WFS1 C>T	4	6303022	6303022	C	T	WFS1	c.1500C>T	NM_006005.3	NP_005996.2:p.(Asn500=)	NC_000004.11:g.6303022C>T	(Likely) benign	3 labs	febe2e3d41
15:89392845 ACAN G>A	15	89392845	89392845	G	A	ACAN	c.1909G>A	NM_013227.3	NP_037359.3:p.(Val637Ile)	NC_000015.9:g.89392845G>A	(Likely) benign	2 labs	fecd689ff7
15:89844664 FANCI C>T	15	89844664	89844664	C	T	FANCI	c.2997C>T	NM_001113378.2	NP_001106849.1:p.(Ser999=)	NC_000015.9:g.89844664C>T	(Likely) benign	2 labs	fec3aef145
1:17314702 ATP13A2 C>T	1	17314702	17314702	C	T	ATP13A2	c.2790G>A	NM_022089.4	NP_071372.1:p.(Ser930=)	NC_000001.10:g.17314702C>T	(Likely) benign	4 labs	fed756b0ba
22:36745275 MYH9 G>C	22	36745275	36745275	G	C	MYH9	c.7C>G	NM_002473.5	NP_002464.1:p.(Gln3Glu)	NC_000022.10:g.36745275G>C	(Likely) benign	3 labs	fed6a8f80b
7:103138569 RELN G>A	7	103138569	103138569	G	A	RELN	c.8798C>T	NM_005045.4	NP_005036.2:p.(Thr2933Ile)	NC_000007.13:g.103138569G>A	VUS	2 labs	fedf927b7b
7:103251161 RELN G>C	7	103251161	103251161	G	C	RELN	c.2989C>G	NM_005045.4	NP_005036.2:p.(Leu997Val)	NC_000007.13:g.103251161G>C	(Likely) benign	2 labs	fee410ab95
1:197070594 ASPM A>G	1	197070594	197070594	A	G	ASPM	c.7787T>C	NM_018136.4	NP_060606.3:p.(Val2596Ala)	NC_000001.10:g.197070594A>G	(Likely) benign	2 labs	fee48e1c09
15:49076311 CEP152 T>C	15	49076311	49076311	T	C	CEP152	c.1180A>G	NM_001194998.2	NP_001181927.1:p.(Ile394Val)	NC_000015.9:g.49076311T>C	(Likely) benign	3 labs	fef0ebc65c
20:30818823 POFUT1 G>A	20	30818823	30818823	G	A	POFUT1	c.937G>A	NM_015352.2	NP_056167.1:p.(Glu313Lys)	NC_000020.10:g.30818823G>A	(Likely) benign	2 labs	fef1cb2d18
1:114442672 AP4B1 G>A	1	114442672	114442672	G	A	AP4B1	c.968C>T	NM_006594.4	NP_006585.2:p.(Ser323Leu)	NC_000001.10:g.114442672G>A	VUS	2 labs	fef51751e8
15:80450501 FAH G>T	15	80450501	80450501	G	T	FAH	c.181G>T	NM_000137.2	NP_000128.1:p.(Val61Phe)	NC_000015.9:g.80450501G>T	(Likely) benign	2 labs	ff0429042c
11:57367578 SERPING1 A>AG	11	57367578	57367579	A	AG	SERPING1	c.279dup	NM_000062.2	NP_000053.2:p.(Pro94AlafsTer39)	NC_000011.9:g.57367579dup	(Likely) benign	2 labs	ff0a48ea13
X:153641586 TAFAZZIN G>A	X	153641586	153641586	G	A	TAFAZZIN	c.281G>A	NM_000116.3	NP_000107.1:p.(Arg94His)	NC_000023.10:g.153641586G>A	(Likely) pathogenic	2 labs	ff0a8516f8
4:126337736 FAT4 C>T	4	126337736	126337736	C	T	FAT4	c.6977C>T	NM_001291303.1	NP_001278232.1:p.(Thr2326Ile)	NC_000004.11:g.126337736C>T	(Likely) benign	2 labs	ff0d8f5049
2:228162468 COL4A3 G>A	2	228162468	228162468	G	A	COL4A3	c.3644G>A	NM_000091.4	NP_000082.2:p.(Arg1215Gln)	NC_000002.11:g.228162468G>A	(Likely) benign	2 labs	ff157f0580
2:189864023 COL3A1 G>A	2	189864023	189864023	G	A	COL3A1	c.2035G>A	NM_000090.4	NP_000081.2:p.(Ala679Thr)	NC_000002.11:g.189864023G>A	(Likely) benign	3 labs	ff1f1de9c7
5:41160430 C6 C>A	5	41160430	41160430	C	A	C6	c.1498G>T	NM_001115131.4	NP_001108603.2:p.(Ala500Ser)	NC_000005.9:g.41160430C>A	VUS	2 labs	ff27e76783
17:29586097 NF1 T>TA	17	29586097	29586098	T	TA	NF1	c.4318dup	NM_000267.3	NP_000258.1:p.(Met1440AsnfsTer6)	NC_000017.10:g.29586098dup	(Likely) pathogenic	2 labs	ff27f4db80
19:17943490 JAK3 G>A	19	17943490	17943490	G	A	JAK3	c.2518C>T	NM_000215.3	NP_000206.2:p.(Arg840Cys)	NC_000019.9:g.17943490G>A	VUS	2 labs	ff31832bd2
18:55247336 FECH C>A	18	55247336	55247336	C	A	FECH	c.163G>T	NM_001012515.4	NP_001012533.1:p.(Gly55Cys)	NC_000018.9:g.55247336C>A	(Likely) benign	3 labs	ff342a8a49
2:25457243 DNMT3A G>A	2	25457243	25457243	G	A	DNMT3A	c.2644C>T	NM_175629.2	NP_783328.1:p.(Arg882Cys)	NC_000002.11:g.25457243G>A	(Likely) pathogenic	2 labs	ff3347385a
10:79769273 POLR3A C>T	10	79769273	79769273	C	T	POLR3A	c.1909+22G>A	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769273C>T	(Likely) pathogenic	5 labs	ff3fd69207
12:111350926 MYL2 G>A	12	111350926	111350926	G	A	MYL2	c.376C>T	NM_000432.3	NP_000423.2:p.(Gln126Ter)	NC_000012.11:g.111350926G>A	(Likely) pathogenic	2 labs	ff45a6877a
X:48762415 SLC35A2 G>A	X	48762415	48762415	G	A	SLC35A2	c.855C>T	NM_001282651.1	NP_001269580.1:p.(Ala285=)	NC_000023.10:g.48762415G>A	(Likely) benign	2 labs	ff4f031486
2:191862937 STAT1 A>T	2	191862937	191862937	A	T	STAT1	c.633+6T>A	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191862937A>T	(Likely) benign	3 labs	ff52fc78dd
11:60230588 MS4A1 C>A	11	60230588	60230588	C	A	MS4A1	c.273C>A	NM_152866.3	NP_690605.1:p.(Gly91=)	NC_000011.9:g.60230588C>A	(Likely) benign	2 labs	ff6063b39a
6:3104474 RIPK1 G>A	6	3104474	3104474	G	A	RIPK1	c.442G>A	NM_001317061.2	NP_001303990.1:p.(Glu148Lys)	NC_000006.11:g.3104474G>A	(Likely) benign	2 labs	ff67c5a8a8
2:179458339 TTN C>T	2	179458339	179458339	C	T	TTN	c.58688G>A	NM_001267550.2	NP_001254479.2:p.(Ser19563Asn)	NC_000002.11:g.179458339C>T	VUS	3 labs	ff7827e2ac
10:50701183 ERCC6 C>T	10	50701183	50701183	C	T	ERCC6	c.1801G>A	NM_000124.2	NP_000115.1:p.(Gly601Ser)	NC_000010.10:g.50701183C>T	VUS	2 labs	ff9630e9f0
7:128481026 FLNC T>C	7	128481026	128481026	T	C	FLNC	c.1813+2T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481026T>C	(Likely) pathogenic	2 labs	ffa2bb55d2
7:4830318 AP5Z1 C>T	7	4830318	4830318	C	T	AP5Z1	c.1953C>T	NM_014855.3	NP_055670.1:p.(Gly651=)	NC_000007.13:g.4830318C>T	(Likely) benign	2 labs	ffa666b991
9:2039799 SMARCA2 A>C	9	2039799	2039799	A	C	SMARCA2	c.689A>C	NM_003070.4	NP_003061.3:p.(Gln230Pro)	NC_000009.11:g.2039799A>C	(Likely) benign	2 labs	ffaa9aa1e7
2:32460584 NLRC4 A>G	2	32460584	32460584	A	G	NLRC4	c.2668T>C	NM_021209.4	NP_067032.3:p.(Cys890Arg)	NC_000002.11:g.32460584A>G	(Likely) benign	2 labs	ffb3257d01
19:38976659 RYR1 T>G	19	38976659	38976659	T	G	RYR1	c.5364T>G	NM_000540.2	NP_000531.2:p.(Ala1788=)	NC_000019.9:g.38976659T>G	(Likely) benign	2 labs	ffbf8117e5
18:29178513 TTR G>C	18	29178513	29178513	G	C	TTR	c.337-18G>C	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29178513G>C	(Likely) benign	4 labs	ffbd9c7781
7:117232466 CFTR C>T	7	117232466	117232466	C	T	CFTR	c.2245C>T	NM_000492.3	NP_000483.3:p.(Leu749=)	NC_000007.13:g.117232466C>T	(Likely) benign	2 labs	ffc41adb91
19:6495736 TUBB4A A>G	19	6495736	6495736	A	G	TUBB4A	c.774T>C	NM_006087.4	NP_006078.2:p.(Val258=)	NC_000019.9:g.6495736A>G	(Likely) benign	2 labs	ffc514c05d
5:127668723 FBN2 A>G	5	127668723	127668723	A	G	FBN2	c.4103T>C	NM_001999.3	NP_001990.2:p.(Val1368Ala)	NC_000005.9:g.127668723A>G	VUS	2 labs	ffc6dda421
21:45706907 AIRE C>G	21	45706907	45706907	C	G	AIRE				NC_000021.8:g.45706907C>G	(Likely) benign	2 labs	ffc9054723
15:89868793 POLG G>A	15	89868793	89868793	G	A	POLG	c.1837C>T	NM_002693.3	NP_002684.1:p.(His613Tyr)	NC_000015.9:g.89868793G>A	VUS	2 labs	ffd11c5e57
X:106888449 PRPS1 G>A	X	106888449	106888449	G	A	PRPS1	c.573G>A	NM_002764.4	NP_002755.1:p.(Leu191=)	NC_000023.10:g.106888449G>A	(Likely) benign	3 labs	ffdfa2037b
14:68252852 ZFYVE26 A>T	14	68252852	68252852	A	T	ZFYVE26	c.3118T>A	NM_015346.3	NP_056161.2:p.(Ser1040Thr)	NC_000014.8:g.68252852A>T	(Likely) benign	4 labs	ffda65d8d5
14:89319310 TTC8 C>T	14	89319310	89319310	C	T	TTC8	c.31-5C>T	NM_001288782.1	NP_001275711.1:p.?	NC_000014.8:g.89319310C>T	(Likely) benign	4 labs	ffd6a53829
8:100861146 VPS13B G>A	8	100861146	100861146	G	A	VPS13B	c.10136+24G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100861146G>A	(Likely) benign	2 labs	ffe85bd17b
5:121411172 LOX C>T	5	121411172	121411172	C	T	LOX	c.805G>A	NM_002317.6	NP_002308.2:p.(Val269Met)	NC_000005.9:g.121411172C>T	VUS	2 labs	ffeba56697
5:41161953 C6 T>C	5	41161953	41161953	T	C	C6	c.1300A>G	NM_001115131.2	NP_001108603.2:p.(Ile434Val)	NC_000005.9:g.41161953T>C	(Likely) benign	2 labs	fff797b6c0
2:179410767 TTN C>T	2	179410767	179410767	C	T	TTN	c.95196G>A	NM_001267550.1	NP_001254479.1:p.(Pro31732=)	NC_000002.11:g.179410767C>T	(Likely) benign	2 labs	fff7c61495
9:124088928 GSN G>A	9	124088928	124088928	G	A	GSN	c.1555G>A	NM_001353053.1	NP_001339982.1:p.(Ala519Thr)	NC_000009.11:g.124088928G>A	(Likely) benign	2 labs	fffa30c495
2:179497018 TTN G>A	2	179497018	179497018	G	A	TTN	c.43603C>T	NM_001267550.2	NP_001254479.2:p.(Arg14535Cys)	NC_000002.11:g.179497018G>A	(Likely) benign	4 labs	fffb1a8115
9:102988437 INVS C>T	9	102988437	102988437	C	T	INVS	c.367C>T	NM_014425.5	NP_055240.2:p.(Arg123Trp)	NC_000009.11:g.102988437C>T	VUS	2 labs	fffd8ebad8
14:89336407 TTC8 TG>T	14	89336407	89336408	TG	T	TTC8	c.915del	NM_144596.4	NP_653197.2:p.(Met305IlefsTer15)	NC_000014.8:g.89336408del	(Likely) pathogenic	2 labs	000f3eba73
17:33433507 RAD51D C>T	17	33433507	33433507	C	T	RAD51D	c.481-7G>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33433507C>T	(Likely) benign	2 labs	1100f24123
16:23641231 PALB2 T>C	16	23641231	23641231	T	C	PALB2	c.2244A>G	NM_024675.4	NP_078951.2:p.(Thr748=)	NC_000016.9:g.23641231T>C	(Likely) benign	2 labs	002bdc6b82
X:141291562 MAGEC2 ACCT>A	X	141291562	141291575	ACCT	A	MAGEC2	c.209_211del	NM_016249.4	NP_057333.1:p.(Glu70del)	NC_000023.10:g.141291573_141291575del	(Likely) benign	2 labs	002a8a3a4f
15:48902987 FBN1 G>A	15	48902987	48902987	G	A	FBN1	c.284C>T	NM_000138.5	NP_000129.3:p.(Ser95Leu)	NC_000015.9:g.48902987G>A	VUS	3 labs	0050e8a7ff
2:48026250 MSH6 AAAGAG>A	2	48026250	48026261	AAAGAG	A	MSH6	c.1135_1139del	NM_000179.3	NP_000170.1:p.(Arg379Ter)	NC_000002.11:g.48026257_48026261del	(Likely) pathogenic	3 labs	2f8a5a1b2b
5:74670023 CERT1 GA>G	5	74670023	74670041	GA	G	CERT1	c.*10-8del	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74670041del	(Likely) benign	2 labs	9af9cb25e2
4:186337011 UFSP2 A>T	4	186337011	186337011	A	T	UFSP2	c.344T>A	NM_018359.5	NP_060829.2:p.(Val115Glu)	NC_000004.11:g.186337011A>T	(Likely) pathogenic	2 labs	006a926fa2
13:110838819 COL4A1 CA>C	13	110838819	110838820	CA	C	COL4A1	c.1809del	NM_001845.6	NP_001836.3:p.(Pro605LeufsTer197)	NC_000013.10:g.110838820del	(Likely) pathogenic	2 labs	008003873a
17:62049204 SCN4A G>C	17	62049204	62049204	G	C	SCN4A	c.489C>G	NM_000334.4	NP_000325.4:p.(Thr163=)	NC_000017.10:g.62049204G>C	(Likely) benign	2 labs	008b9a5c7b
X:41390265 CASK G>A	X	41390265	41390265	G	A	CASK	c.2515C>T	NM_001367721.1	NP_001354650.1:p.(Pro839Ser)	NC_000023.10:g.41390265G>A	VUS	2 labs	009458dbed
8:17942196 ASAH1 CAGCAAAG>C	8	17942196	17942203	CAGCAAAG	C	ASAH1	c.108_114del	NM_001127505.3	NP_001120977.1:p.(Ser36ArgfsTer2)	NC_000008.10:g.17942197_17942203del	VUS	2 labs	c4b7dcf179
1:152277575 FLG C>T	1	152277575	152277575	C	T	FLG	c.9787G>A	NM_002016.2	NP_002007.1:p.(Gly3263Ser)	NC_000001.10:g.152277575C>T	(Likely) benign	2 labs	00a394b6bb
2:179550244 TTN C>T	2	179550244	179550244	C	T	TTN	c.32392+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179550244C>T	VUS	2 labs	011003c29e
13:32911909 BRCA2 G>A	13	32911909	32911909	G	A	BRCA2	c.3417G>A	NM_000059.4	NP_000050.3:p.(Lys1139=)	NC_000013.10:g.32911909G>A	(Likely) benign	2 labs	712ba5a4f4
5:138260245 CTNNA1 A>G	5	138260245	138260245	A	G	CTNNA1	c.1593A>G	NM_001903.5	NP_001894.2:p.(Gln531=)	NC_000005.9:g.138260245A>G	(Likely) benign	2 labs	7bc5f29e3c
2:15555780 NBAS C>A	2	15555780	15555780	C	A	NBAS	c.2827G>T	NM_015909.4	NP_056993.2:p.(Glu943Ter)	NC_000002.11:g.15555780C>A	(Likely) pathogenic	2 labs	01966dcc34
20:57430117 GNAS C>T	20	57430117	57430117	C	T	GNAS	c.1610C>T	NM_001077490.3	NP_001070958.1:p.(Ala537Val)	NC_000020.10:g.57430117C>T	(Likely) benign	2 labs	145e26d370
12:112884189 PTPN11 A>G	12	112884189	112884189	A	G	PTPN11	c.124A>G	NM_002834.5	NP_002825.3:p.(Thr42Ala)	NC_000012.11:g.112884189A>G	(Likely) pathogenic	2 labs	01f8f2a76e
19:7126638 INSR C>T	19	7126638	7126638	C	T	INSR	c.2970G>A	NM_000208.4	NP_000199.2:p.(Pro990=)	NC_000019.9:g.7126638C>T	(Likely) benign	2 labs	01f2c683a8
2:47600591 EPCAM T>A	2	47600591	47600591	T	A	EPCAM	c.77-11T>A	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47600591T>A	(Likely) benign	2 labs	b24539d92a
13:32907535 BRCA2 C>CT	13	32907535	32907546	C	CT	BRCA2	c.1909+22dup	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907546dup	(Likely) benign	2 labs	b7df79f549
4:111554117 PITX2 A>C	4	111554117	111554117	A	C	PITX2	c.38T>G	NM_001204397.1	NP_001191326.1:p.(Val13Gly)	NC_000004.11:g.111554117A>C	VUS	2 labs	170063f9c8
3:37067093 MLH1 ATATATATTT>A	3	37067093	37067103	ATATATATTT	A	MLH1	c.1039-33_1039-25del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067103del	(Likely) benign	2 labs	bc7e10e963
3:37090021 MLH1 T>TTGGATTACCCCTTC	3	37090021	37090037	T	TTGGATTACCCCTTC	MLH1	c.1913_1926dup	NM_000249.4	NP_000240.1:p.(Ile643AspfsTer5)	NC_000003.11:g.37090024_37090037dup	(Likely) pathogenic	2 labs	be7cde0584
11:108117703 ATM C>T	11	108117703	108117703	C	T	ATM	c.914C>T	NM_000051.4	NP_000042.3:p.(Ser305Leu)	NC_000011.9:g.108117703C>T	(Likely) benign	2 labs	bdc5aafa48
17:41276061 BRCA1 A>G	17	41276061	41276061	A	G	BRCA1	c.53T>C	NM_007294.4	NP_009225.1:p.(Met18Thr)	NC_000017.10:g.41276061A>G	(Likely) pathogenic	3 labs	4470b10863
17:3560089 CTNS G>A	17	3560089	3560089	G	A	CTNS	c.681G>A	NM_004937.3	NP_004928.2:p.(Glu227=)	NC_000017.10:g.3560089G>A	(Likely) pathogenic	2 labs	0278f34567
8:61768586 CHD7 G>C	8	61768586	61768586	G	C	CHD7	c.6989G>C	NM_017780.4	NP_060250.2:p.(Gly2330Ala)	NC_000008.10:g.61768586G>C	(Likely) benign	2 labs	029067bd55
9:94488869 ROR2 G>A	9	94488869	94488869	G	A	ROR2	c.1340C>T	NM_004560.4	NP_004551.2:p.(Ser447Leu)	NC_000009.11:g.94488869G>A	VUS	2 labs	1e6ddc62a1
2:227954599 COL4A4 G>A	2	227954599	227954599	G	A	COL4A4	c.1444C>T	NM_000092.5	NP_000083.3:p.(Pro482Ser)	NC_000002.11:g.227954599G>A	(Likely) benign	2 labs	463869306d
11:108192151 ATM T>C	11	108192151	108192151	T	C	ATM	c.6572+4T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108192151T>C	(Likely) benign	2 labs	02c0788afc
13:32915096 BRCA2 G>A	13	32915096	32915096	G	A	BRCA2	c.6604G>A	NM_000059.4	NP_000050.3:p.(Asp2202Asn)	NC_000013.10:g.32915096G>A	(Likely) benign	2 labs	ea8dcfd3c3
12:110024541 MVK A>G	12	110024541	110024541	A	G	MVK	c.632-18A>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110024541A>G	(Likely) benign	2 labs	37d144ae9f
17:41277393 BRCA1 G>A	17	41277393	41277393	G	A	BRCA1				NC_000017.10:g.41277393G>A	(Likely) benign	2 labs	00725f05ec
2:48023108 MSH6 G>A	2	48023108	48023108	G	A	MSH6	c.533G>A	NM_000179.3	NP_000170.1:p.(Arg178His)	NC_000002.11:g.48023108G>A	VUS	2 labs	00a70eccdf
2:215634055 BARD1 C>T	2	215634055	215634055	C	T	BARD1				NC_000002.11:g.215634055C>T	(Likely) benign	2 labs	01bda25da8
17:41247863 BRCA1 C>G	17	41247863	41247863	C	G	BRCA1	c.670G>C	NM_007294.4	NP_009225.1:p.(Ala224Pro)	NC_000017.10:g.41247863C>G	VUS	2 labs	75a8fa0e08
7:75689741 MDH2 G>A	7	75689741	75689741	G	A	MDH2	c.480G>A	NM_005918.3	NP_005909.2:p.(Val160=)	NC_000007.13:g.75689741G>A	(Likely) benign	2 labs	031e1e97c6
7:91726960 AKAP9 G>A	7	91726960	91726960	G	A	AKAP9	c.10459G>A	NM_005751.5	NP_005742.4:p.(Glu3487Lys)	NC_000007.13:g.91726960G>A	(Likely) benign	2 labs	03481afb4c
19:54621952 PRPF31 G>A	19	54621952	54621952	G	A	PRPF31	c.178-1G>A	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54621952G>A	(Likely) pathogenic	2 labs	048a399fa0
12:24521495 SOX5 AC>A	12	24521495	24521499	AC	A	SOX5	c.-174+1del	NM_001261414.3	NP_001248343.1:p.?	NC_000012.11:g.24521499del	(Likely) benign	3 labs	3a832a861b
17:41215954 BRCA1 A>G	17	41215954	41215954	A	G	BRCA1	c.5089T>C	NM_007294.4	NP_009225.1:p.(Cys1697Arg)	NC_000017.10:g.41215954A>G	(Likely) pathogenic	2 labs	ae98e4a904
10:75834617 VCL G>A	10	75834617	75834617	G	A	VCL	c.739G>A	NM_003373.4	NP_003364.1:p.(Val247Met)	NC_000010.10:g.75834617G>A	VUS	2 labs	05c83bde33
10:89717695 PTEN C>T	10	89717695	89717695	C	T	PTEN	c.720C>T	NM_000314.8	NP_000305.3:p.(Tyr240=)	NC_000010.10:g.89717695C>T	(Likely) benign	2 labs	05cb7368f7
13:32944528 BRCA2 A>G	13	32944528	32944528	A	G	BRCA2	c.8332-11A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32944528A>G	(Likely) benign	2 labs	05e6e75a71
3:12626379 RAF1 C>G	3	12626379	12626379	C	G	RAF1	c.1770G>C	NM_002880.4	NP_002871.1:p.(Lys590Asn)	NC_000003.11:g.12626379C>G	VUS	2 labs	0665f39595
7:128482440 FLNC C>G	7	128482440	128482440	C	G	FLNC	c.2265+12C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482440C>G	(Likely) benign	2 labs	0697888ed0
10:89720617 PTEN C>A	10	89720617	89720617	C	A	PTEN	c.802-34C>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720617C>A	(Likely) benign	2 labs	06a6115e46
3:130716575 ATP2C1 CTTTG>C	3	130716575	130716584	CTTTG	C	ATP2C1	c.2375_2378del	NM_001199179.3	NP_001186108.1:p.(Phe792SerfsTer10)	NC_000003.11:g.130716581_130716584del	(Likely) pathogenic	2 labs	0798ad0cae
12:111746274 CUX2 CCTT>C	12	111746274	111746281	CCTT	C	CUX2	c.1207_1209del	NM_015267.4	NP_056082.2:p.(Phe403del)	NC_000012.11:g.111746279_111746281del	(Likely) benign	2 labs	34b689beb2
9:27212708 TEK A>G	9	27212708	27212708	A	G	TEK	c.2690A>G	NM_000459.5	NP_000450.3:p.(Tyr897Cys)	NC_000009.11:g.27212708A>G	(Likely) pathogenic	2 labs	08b54e9b4d
X:49083552 CACNA1F C>T	X	49083552	49083552	C	T	CACNA1F	c.1156G>A	NM_005183.4	NP_005174.2:p.(Gly386Arg)	NC_000023.10:g.49083552C>T	(Likely) benign	2 labs	08c0659f9e
22:19750806 TBX1 T>A	22	19750806	19750806	T	A	TBX1	c.453T>A	NM_080647.1	NP_542378.1:p.(Asp151Glu)	NC_000022.10:g.19750806T>A	VUS	2 labs	090db37684
1:112319678 KCND3 T>C	1	112319678	112319678	T	C	KCND3	c.1736A>G	NM_004980.5	NP_004971.2:p.(Gln579Arg)	NC_000001.10:g.112319678T>C	VUS	2 labs	0904d323e0
15:27018790 GABRB3 A>G	15	27018790	27018790	A	G	GABRB3	c.80+2T>C	NM_021912.5	NP_068712.1:p.?	NC_000015.9:g.27018790A>G	VUS	2 labs	ea8a4fecc7
11:108199881 ATM C>T	11	108199881	108199881	C	T	ATM	c.7223C>T	NM_000051.4	NP_000042.3:p.(Ser2408Leu)	NC_000011.9:g.108199881C>T	VUS	2 labs	0949e49cda
10:121432031 BAG3 C>T	10	121432031	121432031	C	T	BAG3	c.772C>T	NM_004281.4	NP_004272.2:p.(Arg258Trp)	NC_000010.10:g.121432031C>T	(Likely) benign	2 labs	099ddf60d8
13:32893374 BRCA2 A>G	13	32893374	32893374	A	G	BRCA2	c.228A>G	NM_000059.4	NP_000050.3:p.(Ser76=)	NC_000013.10:g.32893374A>G	(Likely) benign	2 labs	09afae4a3d
17:33444046 RAD51D G>A	17	33444046	33444046	G	A	RAD51D	c.263+1474C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33444046G>A	(Likely) benign	2 labs	09ec133240
5:112043282 APC C>G	5	112043282	112043282	C	G	APC	c.-133C>G	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043282C>G	(Likely) benign	2 labs	fd675fee32
2:227919337 COL4A4 C>A	2	227919337	227919337	C	A	COL4A4	c.2833G>T	NM_000092.4	NP_000083.3:p.(Gly945Ter)	NC_000002.11:g.227919337C>A	(Likely) pathogenic	2 labs	0a2fae6951
1:45798155 MUTYH G>A	1	45798155	45798155	G	A	MUTYH	c.696C>T	NM_001128425.1	NP_001121897.1:p.(Thr232=)	NC_000001.10:g.45798155G>A	(Likely) benign	2 labs	0a6c350eb8
11:108142000 ATM C>T	11	108142000	108142000	C	T	ATM	c.2944C>T	NM_000051.4	NP_000042.3:p.(Arg982Cys)	NC_000011.9:g.108142000C>T	VUS	2 labs	0a770d3f4b
1:10381887 KIF1B A>G	1	10381887	10381887	A	G	KIF1B	c.2330A>G	NM_001365951.3	NP_001352880.1:p.(Asn777Ser)	NC_000001.10:g.10381887A>G	(Likely) benign	2 labs	00083cf2d0
11:2161430 IGF2 G>A	11	2161430	2161430	G	A	IGF2	c.97C>T	NM_001127598.3	NP_001121070.1:p.(Gln33Ter)	NC_000011.9:g.2161430G>A	VUS	2 labs	6663242227
3:37035133 MLH1 T>G	3	37035133	37035133	T	G	MLH1	c.95T>G	NM_000249.4	NP_000240.1:p.(Ile32Ser)	NC_000003.11:g.37035133T>G	VUS	2 labs	0bb8ee582a
11:108115778 ATM T>G	11	108115778	108115778	T	G	ATM	c.901+25T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115778T>G	(Likely) benign	2 labs	0bf193c5ad
5:112043533 APC G>C	5	112043533	112043533	G	C	APC	c.119G>C	NM_001127511.2	NP_001120983.2:p.(Ser40Thr)	NC_000005.9:g.112043533G>C	(Likely) benign	2 labs	6c80a46b30
16:2161117 PKD1 G>A	16	2161117	2161117	G	A	PKD1	c.4051C>T	NM_001009944.2	NP_001009944.2:p.(Arg1351Trp)	NC_000016.9:g.2161117G>A	(Likely) benign	2 labs	002d3de663
17:56801452 RAD51C G>A	17	56801452	56801452	G	A	RAD51C	c.956G>A	NM_058216.2	NP_478123.1:p.(Arg319Gln)	NC_000017.10:g.56801452G>A	(Likely) benign	2 labs	0c99d6577a
12:103237523 PAH A>AG	12	103237523	103237528	A	AG	PAH	c.1099dup	NM_000277.3	NP_000268.1:p.(Leu367ProfsTer27)	NC_000012.11:g.103237528dup	(Likely) pathogenic	2 labs	0c9a169a90
21:45717550 PFKL T>C	21	45717550	45717550	T	C	PFKL				NC_000021.8:g.45717550T>C	(Likely) benign	2 labs	0ca3f2eba6
2:73800270 ALMS1 G>A	2	73800270	73800270	G	A	ALMS1	c.11269G>A	NM_015120.4	NP_055935.4:p.(Gly3757Ser)	NC_000002.11:g.73800270G>A	(Likely) benign	3 labs	004b243eb2
16:15814752 MYH11 C>T	16	15814752	15814752	C	T	MYH11	c.4756G>A	NM_001040113.2	NP_001035202.1:p.(Asp1586Asn)	NC_000016.9:g.15814752C>T	VUS	2 labs	0d52439974
16:68867456 CDH1 C>T	16	68867456	68867456	C	T	CDH1	c.*54C>T	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68867456C>T	(Likely) benign	2 labs	0d709a1bde
16:1264974 CACNA1H G>A	16	1264974	1264974	G	A	CACNA1H	c.4932G>A	NM_021098.3	NP_066921.2:p.(Ser1644=)	NC_000016.9:g.1264974G>A	(Likely) benign	2 labs	006410c9b1
6:116756773 DSE T>C	6	116756773	116756773	T	C	DSE	c.1142T>C	NM_013352.4	NP_037484.1:p.(Val381Ala)	NC_000006.11:g.116756773T>C	(Likely) benign	2 labs	0d9a417a6f
2:189873778 COL3A1 G>T	2	189873778	189873778	G	T	COL3A1	c.3654G>T	NM_000090.4	NP_000081.2:p.(Pro1218=)	NC_000002.11:g.189873778G>T	(Likely) benign	2 labs	006c26debf
8:144999573 PLEC C>T	8	144999573	144999573	C	T	PLEC	c.4935G>A	NM_201380.4	NP_958782.1:p.(Gln1645=)	NC_000008.10:g.144999573C>T	(Likely) benign	2 labs	00799df570
2:215657032 BARD1 T>C	2	215657032	215657032	T	C	BARD1	c.353A>G	NM_000465.4	NP_000456.2:p.(Asn118Ser)	NC_000002.11:g.215657032T>C	(Likely) benign	3 labs	009229c4f7
16:23640467 PALB2 G>A	16	23640467	23640467	G	A	PALB2	c.2586+58C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640467G>A	(Likely) benign	2 labs	0ebf702a52
17:7578146 TP53 T>C	17	7578146	7578146	T	C	TP53	c.672+31A>G	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7578146T>C	(Likely) benign	2 labs	0edad3f55d
16:56920278 SLC12A3 C>T	16	56920278	56920278	C	T	SLC12A3	c.1928C>T	NM_000339.3	NP_000330.3:p.(Pro643Leu)	NC_000016.9:g.56920278C>T	(Likely) pathogenic	2 labs	00a5a0d319
11:65427240 RELA G>A	11	65427240	65427240	G	A	RELA	c.456C>T	NM_021975.4	NP_068810.3:p.(Tyr152=)	NC_000011.9:g.65427240G>A	(Likely) benign	2 labs	00b0dabce9
11:129817269 PRDM10 G>A	11	129817269	129817269	G	A	PRDM10	c.295-4C>T	NM_020228.3	NP_064613.2:p.?	NC_000011.9:g.129817269G>A	(Likely) benign	2 labs	0f9cc6494c
6:112462655 LAMA4 G>A	6	112462655	112462655	G	A	LAMA4	c.2697C>T	NM_002290.5	NP_002281.3:p.(Tyr899=)	NC_000006.11:g.112462655G>A	(Likely) benign	2 labs	0fa0e6921e
2:179404425 TTN C>T	2	179404425	179404425	C	T	TTN	c.98367G>A	NM_001267550.2	NP_001254479.2:p.(Lys32789=)	NC_000002.11:g.179404425C>T	(Likely) benign	2 labs	0fb2afca09
18:29115344 DSG2 A>G	18	29115344	29115344	A	G	DSG2	c.1392A>G	NM_001943.5	NP_001934.2:p.(Thr464=)	NC_000018.9:g.29115344A>G	(Likely) benign	2 labs	0fc943b584
6:31964785 C4A T>G	6	31964785	31964785	T	G	C4A	c.3856T>G	NM_007293.3	NP_009224.2:p.(Ser1286Ala)	NC_000006.11:g.31964785T>G	(Likely) benign	2 labs	1081113f6b
17:41258495 BRCA1 A>G	17	41258495	41258495	A	G	BRCA1	c.190T>C	NM_007294.4	NP_009225.1:p.(Cys64Arg)	NC_000017.10:g.41258495A>G	(Likely) pathogenic	2 labs	10db4b620b
1:11333941 UBIAD1 A>T	1	11333941	11333941	A	T	UBIAD1	c.353A>T	NM_013319.3	NP_037451.1:p.(Asp118Val)	NC_000001.10:g.11333941A>T	VUS	2 labs	10f29cf41d
2:48032810 MSH6 GCAA>G	2	48032810	48032815	GCAA	G	MSH6	c.3613_3615del	NM_000179.3	NP_000170.1:p.(Thr1205del)	NC_000002.11:g.48032813_48032815del	(Likely) pathogenic	2 labs	11f115ea27
2:238253065 COL6A3 C>T	2	238253065	238253065	C	T	COL6A3	c.7596G>A	NM_004369.4	NP_004360.2:p.(Lys2532=)	NC_000002.11:g.238253065C>T	(Likely) benign	2 labs	12c17613e1
10:72195347 NODAL G>A	10	72195347	72195347	G	A	NODAL	c.586C>T	NM_018055.5	NP_060525.3:p.(Leu196Phe)	NC_000010.10:g.72195347G>A	(Likely) benign	3 labs	010d0b07d8
1:94576974 ABCA4 G>A	1	94576974	94576974	G	A	ABCA4	c.302+20C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94576974G>A	(Likely) benign	2 labs	138599c936
22:17662793 ADA2 A>G	22	17662793	17662793	A	G	ADA2	c.1359T>C	NM_001282225.2	NP_001269154.1:p.(Tyr453=)	NC_000022.10:g.17662793A>G	(Likely) benign	3 labs	012b380145
11:108170680 ATM A>G	11	108170680	108170680	A	G	ATM	c.5177+68A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108170680A>G	(Likely) benign	2 labs	1452035b3c
11:34938038 PDHX G>A	11	34938038	34938038	G	A	PDHX				NC_000011.9:g.34938038G>A	(Likely) benign	2 labs	99e510477f
17:33428167 RAD51D G>A	17	33428167	33428167	G	A	RAD51D	c.903+53C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33428167G>A	(Likely) benign	2 labs	14b742cd24
2:228110643 COL4A3 C>T	2	228110643	228110643	C	T	COL4A3	c.325-27C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228110643C>T	(Likely) benign	2 labs	013eb3887a
4:110687723 CFI T>A	4	110687723	110687723	T	A	CFI	c.315A>T	NM_000204.3	NP_000195.2:p.(Thr105=)	NC_000004.11:g.110687723T>A	(Likely) benign	2 labs	013f0d8549
2:47614017 EPCAM A>T	2	47614017	47614017	A	T	EPCAM	c.*265A>T	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47614017A>T	(Likely) benign	2 labs	14f7eeeefe
16:2161738 PKD1 C>T	16	2161738	2161738	C	T	PKD1	c.3430G>A	NM_001009944.2	NP_001009944.2:p.(Val1144Ile)	NC_000016.9:g.2161738C>T	(Likely) benign	2 labs	0147e1876c
4:981744 IDUA G>A	4	981744	981744	G	A	IDUA	c.299+7G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.981744G>A	(Likely) benign	2 labs	1bdf4a454e
11:108122729 ATM T>C	11	108122729	108122729	T	C	ATM	c.1773T>C	NM_000051.4	NP_000042.3:p.(Asn591=)	NC_000011.9:g.108122729T>C	(Likely) benign	3 labs	15fba01c2a
7:30634548 GARS1 C>T	7	30634548	30634548	C	T	GARS1	c.11C>T	NM_002047.4	NP_002038.2:p.(Pro4Leu)	NC_000007.13:g.30634548C>T	(Likely) benign	2 labs	161131a8f5
8:75272419 GDAP1 C>T	8	75272419	75272419	C	T	GDAP1	c.358C>T	NM_018972.4	NP_061845.2:p.(Arg120Trp)	NC_000008.10:g.75272419C>T	(Likely) pathogenic	2 labs	1641f644fe
11:123513228 SCN3B C>T	11	123513228	123513228	C	T	SCN3B	c.371G>A	NM_018400.3	NP_060870.1:p.(Arg124Gln)	NC_000011.9:g.123513228C>T	VUS	2 labs	017f90cdca
18:43458977 EPG5 C>T	18	43458977	43458977	C	T	EPG5	c.5869+1G>A	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43458977C>T	(Likely) pathogenic	2 labs	171fddb8f7
15:35084476 ACTC1 C>T	15	35084476	35084476	C	T	ACTC1	c.623G>A	NM_005159.5	NP_005150.1:p.(Arg208His)	NC_000015.9:g.35084476C>T	VUS	3 labs	174fe71149
2:191841759 STAT1 G>A	2	191841759	191841759	G	A	STAT1	c.1874-8C>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191841759G>A	(Likely) benign	2 labs	17c03da996
2:47613870 EPCAM T>C	2	47613870	47613870	T	C	EPCAM	c.*118T>C	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613870T>C	(Likely) benign	2 labs	17fa653a5b
20:744415 SLC52A3 G>A	20	744415	744415	G	A	SLC52A3	c.800C>T	NM_033409.4	NP_212134.3:p.(Pro267Leu)	NC_000020.10:g.744415G>A	(Likely) benign	2 labs	17f8d2ca44
20:62076675 KCNQ2 G>A	20	62076675	62076675	G	A	KCNQ2	c.430C>T	NM_172107.4	NP_742105.1:p.(Arg144Trp)	NC_000020.10:g.62076675G>A	(Likely) pathogenic	2 labs	0199076c64
11:46911956 LRP4 T>C	11	46911956	46911956	T	C	LRP4	c.1787A>G	NM_002334.3	NP_002325.2:p.(His596Arg)	NC_000011.9:g.46911956T>C	(Likely) benign	2 labs	019a04a759
7:128478103 FLNC C>T	7	128478103	128478103	C	T	FLNC	c.1032C>T	NM_001458.5	NP_001449.3:p.(Val344=)	NC_000007.13:g.128478103C>T	(Likely) benign	2 labs	187f0c07c2
19:48342749 CRX A>G	19	48342749	48342749	A	G	CRX	c.425A>G	NM_000554.6	NP_000545.1:p.(Tyr142Cys)	NC_000019.9:g.48342749A>G	(Likely) benign	2 labs	18a5391940
11:88924382 TYR C>T	11	88924382	88924382	C	T	TYR	c.832C>T	NM_000372.5	NP_000363.1:p.(Arg278Ter)	NC_000011.9:g.88924382C>T	(Likely) pathogenic	2 labs	18cca29651
7:2552881 LFNG AGATG>A	7	2552881	2552909	AGATG	A	LFNG	c.163_166del	NM_001166355.1	NP_001159827.1:p.(Asp55SerfsTer141)	NC_000007.13:g.2552906_2552909del	(Likely) benign	2 labs	afba097e6b
2:179581972 TTN G>A	2	179581972	179581972	G	A	TTN	c.24538C>T	NM_001256850.1	NP_001243779.1:p.(Arg8180Cys)	NC_000002.11:g.179581972G>A	VUS	2 labs	19b0d5bf0c
7:91726470 AKAP9 T>C	7	91726470	91726470	T	C	AKAP9	c.10197T>C	NM_005751.5	NP_005742.4:p.(Thr3399=)	NC_000007.13:g.91726470T>C	(Likely) benign	2 labs	1a4560750c
16:53656191 RPGRIP1L G>A	16	53656191	53656191	G	A	RPGRIP1L	c.3372C>T	NM_015272.5	NP_056087.2:p.(Ser1124=)	NC_000016.9:g.53656191G>A	(Likely) benign	2 labs	021ae1dbac
20:57429663 GNAS A>C	20	57429663	57429663	A	C	GNAS	c.1156A>C	NM_001077490.3	NP_001070958.1:p.(Thr386Pro)	NC_000020.10:g.57429663A>C	(Likely) benign	2 labs	bb23cea738
7:128478661 FLNC C>T	7	128478661	128478661	C	T	FLNC	c.1215C>T	NM_001458.5	NP_001449.3:p.(Ala405=)	NC_000007.13:g.128478661C>T	(Likely) benign	2 labs	1cd0c02040
2:48027332 MSH6 C>A	2	48027332	48027332	C	A	MSH6	c.2210C>A	NM_000179.2	NP_000170.1:p.(Ala737Glu)	NC_000002.11:g.48027332C>A	(Likely) benign	2 labs	1cdb0625ed
12:56091709 ITGA7 C>T	12	56091709	56091709	C	T	ITGA7	c.1293+13G>A	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56091709C>T	(Likely) benign	2 labs	023daa2324
12:110222146 TRPV4 C>G	12	110222146	110222146	C	G	TRPV4	c.2433G>C	NM_021625.5	NP_067638.3:p.(Ser811=)	NC_000012.11:g.110222146C>G	(Likely) benign	2 labs	1d8e036b00
9:124073142 GSN T>C	9	124073142	124073142	T	C	GSN	c.666+19T>C	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124073142T>C	(Likely) benign	2 labs	024e3b2507
9:98229550 PTCH1 ATGT>A	9	98229550	98229556	ATGT	A	PTCH1	c.2405_2407del	NM_000264.5	NP_000255.2:p.(Asn802del)	NC_000009.11:g.98229554_98229556del	(Likely) pathogenic	2 labs	1e417fa682
3:37083782 MLH1 T>G	3	37083782	37083782	T	G	MLH1	c.1691T>G	NM_000249.3	NP_000240.1:p.(Leu564Arg)	NC_000003.11:g.37083782T>G	(Likely) pathogenic	2 labs	1ec53a1343
17:41258546 BRCA1 A>G	17	41258546	41258546	A	G	BRCA1	c.139T>C	NM_007299.4	NP_009230.2:p.(Cys47Arg)	NC_000017.10:g.41258546A>G	(Likely) pathogenic	2 labs	1fc264c1de
2:179591954 TTN T>G	2	179591954	179591954	T	G	TTN	c.20138A>C	NM_001267550.2	NP_001254479.2:p.(Lys6713Thr)	NC_000002.11:g.179591954T>G	VUS	2 labs	1fc03a510a
5:138253446 CTNNA1 C>T	5	138253446	138253446	C	T	CTNNA1	c.1405C>T	NM_001903.5	NP_001894.2:p.(Leu469=)	NC_000005.9:g.138253446C>T	(Likely) benign	2 labs	2001c46a35
13:32907259 BRCA2 G>A	13	32907259	32907259	G	A	BRCA2	c.1644G>A	NM_000059.3	NP_000050.2:p.(Gln548=)	NC_000013.10:g.32907259G>A	(Likely) benign	2 labs	202c47d25c
11:2608823 KCNQ1 C>T	11	2608823	2608823	C	T	KCNQ1	c.1152C>T	NM_000218.3	NP_000209.2:p.(Ala384=)	NC_000011.9:g.2608823C>T	(Likely) benign	2 labs	028720a09d
6:31919018 CFB T>G	6	31919018	31919018	T	G	CFB	c.1953T>G	NM_001710.5	NP_001701.2:p.(Asp651Glu)	NC_000006.11:g.31919018T>G	(Likely) benign	2 labs	02883d4cfc
15:71507719 THSD4 G>C	15	71507719	71507719	G	C	THSD4	c.445G>C	NM_024817.2	NP_079093.2:p.(Glu149Gln)	NC_000015.9:g.71507719G>C	(Likely) benign	2 labs	02902fd94c
11:108098563 ATM C>T	11	108098563	108098563	C	T	ATM	c.133C>T	NM_000051.4	NP_000042.3:p.(Arg45Trp)	NC_000011.9:g.108098563C>T	(Likely) benign	2 labs	21d5de5d13
7:128488921 FLNC G>A	7	128488921	128488921	G	A	FLNC	c.4812G>A	NM_001458.5	NP_001449.3:p.(Pro1604=)	NC_000007.13:g.128488921G>A	(Likely) benign	2 labs	21e70a3b1f
2:48026566 MSH6 C>T	2	48026566	48026566	C	T	MSH6	c.1444C>T	NM_000179.2	NP_000170.1:p.(Arg482Ter)	NC_000002.11:g.48026566C>T	(Likely) pathogenic	2 labs	2211df26a0
4:110670680 CFI A>G	4	110670680	110670680	A	G	CFI	c.1019T>C	NM_000204.5	NP_000195.3:p.(Ile340Thr)	NC_000004.11:g.110670680A>G	(Likely) pathogenic	2 labs	1bf91c6cdf
6:108243000 SEC63 C>T	6	108243000	108243000	C	T	SEC63	c.452+1G>A	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243000C>T	(Likely) pathogenic	2 labs	02c40beb24
1:17371255 SDHB C>T	1	17371255	17371255	C	T	SDHB	c.200+1G>A	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17371255C>T	(Likely) pathogenic	2 labs	02c60c9322
4:120107298 MYOZ2 A>G	4	120107298	120107298	A	G	MYOZ2	c.738A>G	NM_016599.5	NP_057683.1:p.(Ile246Met)	NC_000004.11:g.120107298A>G	(Likely) benign	2 labs	234b98d351
16:2160973 PKD1 A>G	16	2160973	2160973	A	G	PKD1	c.4195T>C	NM_000296.4	NP_000287.4:p.(Trp1399Arg)	NC_000016.9:g.2160973A>G	(Likely) benign	3 labs	02d630ffe1
11:108186970 ATM G>A	11	108186970	108186970	G	A	ATM	c.6198+130G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186970G>A	(Likely) benign	2 labs	23b3105655
2:179434290 TTN C>CCTT	2	179434290	179434293	C	CCTT	TTN	c.76566_76568dup	NM_001267550.2	NP_001254479.2:p.(Arg25523dup)	NC_000002.11:g.179434291_179434293dup	VUS	3 labs	02e9272e7e
1:196876434 CFHR4 A>C	1	196876434	196876434	A	C	CFHR4	c.617-12A>C	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196876434A>C	(Likely) benign	2 labs	02ea86fc83
7:151372686 PRKAG2 T>G	7	151372686	151372686	T	G	PRKAG2	c.504A>C	NM_016203.4	NP_057287.2:p.(Gln168His)	NC_000007.13:g.151372686T>G	VUS	3 labs	02fdbe8361
13:32914830 BRCA2 A>G	13	32914830	32914830	A	G	BRCA2	c.6338A>G	NM_000059.3	NP_000050.2:p.(Asn2113Ser)	NC_000013.10:g.32914830A>G	(Likely) benign	2 labs	2499ec7076
11:108190627 ATM T>C	11	108190627	108190627	T	C	ATM	c.6348-54T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190627T>C	(Likely) benign	2 labs	24f390bf98
1:92737097 GLMN GCTAA>G	1	92737097	92737103	GCTAA	G	GLMN	c.844_847del	NM_053274.3	NP_444504.1:p.(Leu282GlnfsTer10)	NC_000001.10:g.92737100_92737103del	(Likely) pathogenic	2 labs	2516fcc582
11:108205791 ATM A>G	11	108205791	108205791	A	G	ATM	c.8106A>G	NM_000051.4	NP_000042.3:p.(Ile2702Met)	NC_000011.9:g.108205791A>G	VUS	3 labs	25986d893d
2:86479195 REEP1 T>G	2	86479195	86479195	T	G	REEP1	c.304-2A>C	NM_022912.3	NP_075063.1:p.?	NC_000002.11:g.86479195T>G	(Likely) pathogenic	2 labs	25d0ef02e8
1:179544941 NPHS2 G>A	1	179544941	179544941	G	A	NPHS2	c.59C>T	NM_014625.3	NP_055440.1:p.(Pro20Leu)	NC_000001.10:g.179544941G>A	(Likely) benign	2 labs	032540a038
2:48026648 MSH6 T>C	2	48026648	48026648	T	C	MSH6	c.1526T>C	NM_000179.3	NP_000170.1:p.(Val509Ala)	NC_000002.11:g.48026648T>C	(Likely) benign	2 labs	280dbef204
1:201333484 TNNT2 C>T	1	201333484	201333484	C	T	TNNT2	c.401G>A	NM_001001430.3	NP_001001430.1:p.(Arg134Gln)	NC_000001.10:g.201333484C>T	VUS	3 labs	0394f2e23e
2:48030691 MSH6 C>CT	2	48030691	48030698	C	CT	MSH6	c.3312dup	NM_000179.3	NP_000170.1:p.(Gly1105TrpfsTer3)	NC_000002.11:g.48030698dup	(Likely) pathogenic	2 labs	2a1810c947
11:17663742 OTOG G>C	11	17663742	17663742	G	C	OTOG	c.8400G>C	NM_001277269.2	NP_001264198.1:p.(Leu2800=)	NC_000011.9:g.17663742G>C	(Likely) benign	2 labs	0031ab28a7
19:54327440 NLRP12 G>A	19	54327440	54327440	G	A	NLRP12	c.-12C>T	NM_001277126.2	NP_001264055.1:p.?	NC_000019.9:g.54327440G>A	(Likely) benign	2 labs	0042700c06
20:62319905 RTEL1 G>C	20	62319905	62319905	G	C	RTEL1	c.1819G>C	NM_032957.5	NP_116575.3:p.(Glu607Gln)	NC_000020.10:g.62319905G>C	VUS	2 labs	004e577055
19:36340187 NPHS1 G>C	19	36340187	36340187	G	C	NPHS1	c.791C>G	NM_004646.4	NP_004637.1:p.(Pro264Arg)	NC_000019.9:g.36340187G>C	(Likely) benign	2 labs	0057147b68
X:17743940 NHS C>T	X	17743940	17743940	C	T	NHS	c.1651C>T	NM_198270.4	NP_938011.1:p.(Pro551Ser)	NC_000023.10:g.17743940C>T	(Likely) benign	2 labs	03c922e907
16:3293447 MEFV C>T	16	3293447	3293447	C	T	MEFV	c.2040G>A	NM_000243.2	NP_000234.1:p.(Met680Ile)	NC_000016.9:g.3293447C>T	(Likely) pathogenic	2 labs	03ec1ed03c
7:103214642 RELN C>T	7	103214642	103214642	C	T	RELN	c.4408G>A	NM_005045.4	NP_005036.2:p.(Val1470Ile)	NC_000007.13:g.103214642C>T	(Likely) benign	3 labs	03eb1c13ec
7:6031680 PMS2 TCTGCAGAC>T	7	6031680	6031693	TCTGCAGAC	T	PMS2	c.904_911del	NM_000535.7	NP_000526.2:p.(Val302ThrfsTer4)	NC_000007.13:g.6031686_6031693del	(Likely) pathogenic	2 labs	2e90c6dc82
17:41197762 BRCA1 A>T	17	41197762	41197762	A	T	BRCA1	c.5525T>A	NM_007294.4	NP_009225.1:p.(Val1842Glu)	NC_000017.10:g.41197762A>T	(Likely) pathogenic	2 labs	00ae468b8a
17:56801451 RAD51C C>T	17	56801451	56801451	C	T	RAD51C	c.955C>T	NM_058216.2	NP_478123.1:p.(Arg319Ter)	NC_000017.10:g.56801451C>T	(Likely) pathogenic	2 labs	2d860af207
11:46744925 F2 G>C	11	46744925	46744925	G	C	F2	c.423-7G>C	NM_000506.5	NP_000497.1:p.?	NC_000011.9:g.46744925G>C	(Likely) benign	2 labs	00d4dc34ba
2:26699126 OTOF C>G	2	26699126	26699126	C	G	OTOF	c.2736G>C	NM_194248.3	NP_919224.1:p.(Leu912=)	NC_000002.11:g.26699126C>G	(Likely) benign	2 labs	00e14822dd
17:41247973 BRCA1 A>G	17	41247973	41247973	A	G	BRCA1	c.594-34T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41247973A>G	(Likely) benign	2 labs	2e2a4def52
13:40229957 COG6 T>A	13	40229957	40229957	T	A	COG6	c.94T>A	NM_001145079.2	NP_001138551.1:p.(Cys32Ser)	NC_000013.10:g.40229957T>A	(Likely) benign	2 labs	00e426391e
18:29104657 DSG2 GT>G	18	29104657	29104661	GT	G	DSG2	c.829-5del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29104661del	(Likely) benign	2 labs	2e67581572
3:38622532 SCN5A C>T	3	38622532	38622532	C	T	SCN5A	c.3118G>A	NM_001099404.1	NP_001092874.1:p.(Gly1040Arg)	NC_000003.11:g.38622532C>T	(Likely) benign	2 labs	0450ff2ba9
5:127697481 FBN2 G>A	5	127697481	127697481	G	A	FBN2	c.2489C>T	NM_001999.4	NP_001990.2:p.(Pro830Leu)	NC_000005.9:g.127697481G>A	VUS	2 labs	01039cf508
12:22012551 ABCC9 G>A	12	22012551	22012551	G	A	ABCC9	c.2474C>T	NM_005691.4	NP_005682.2:p.(Ala825Val)	NC_000012.11:g.22012551G>A	VUS	2 labs	010e39d2f5
17:7577094 TP53 G>A	17	7577094	7577094	G	A	TP53	c.844C>T	NM_000546.6	NP_000537.3:p.(Arg282Trp)	NC_000017.10:g.7577094G>A	(Likely) pathogenic	2 labs	3039c6e048
15:74635472 CYP11A1 AT>A	15	74635472	74635473	AT	A	CYP11A1	c.835del	NM_000781.3	NP_000772.2:p.(Ile279TyrfsTer10)	NC_000015.9:g.74635473del	(Likely) pathogenic	2 labs	3092bafdae
17:39925295 JUP G>T	17	39925295	39925295	G	T	JUP	c.633C>A	NM_002230.2	NP_002221.1:p.(Asn211Lys)	NC_000017.10:g.39925295G>T	VUS	2 labs	30a3cf35d5
2:179595389 TTN T>A	2	179595389	179595389	T	A	TTN	c.17871A>T	NM_001267550.2	NP_001254479.2:p.(Gln5957His)	NC_000002.11:g.179595389T>A	VUS	2 labs	30f1e2baa3
8:96281261 CFAP418 A>G	8	96281261	96281261	A	G	CFAP418	c.155+2T>C	NM_177965.4	NP_808880.1:p.?	NC_000008.10:g.96281261A>G	(Likely) pathogenic	2 labs	3120c014e9
17:41258474 BRCA1 T>C	17	41258474	41258474	T	C	BRCA1	c.211A>G	NM_007294.3	NP_009225.1:p.(Arg71Gly)	NC_000017.10:g.41258474T>C	(Likely) pathogenic	2 labs	04757b710c
11:108163362 ATM G>T	11	108163362	108163362	G	T	ATM	c.4453G>T	NM_000051.4	NP_000042.3:p.(Asp1485Tyr)	NC_000011.9:g.108163362G>T	VUS	2 labs	0145edfeea
6:123696766 TRDN G>T	6	123696766	123696766	G	T	TRDN	c.1257C>A	NM_006073.4	NP_006064.2:p.(Asp419Glu)	NC_000006.11:g.123696766G>T	(Likely) benign	2 labs	3284d4bbf1
22:23917192 IGLL1 G>T	22	23917192	23917192	G	T	IGLL1				NC_000022.10:g.23917192G>T	(Likely) benign	3 labs	0496e799b6
2:228173750 COL4A3 T>C	2	228173750	228173750	T	C	COL4A3	c.4598T>C	NM_000091.4	NP_000082.2:p.(Met1533Thr)	NC_000002.11:g.228173750T>C	VUS	2 labs	049b257774
6:91228271 MAP3K7 G>A	6	91228271	91228271	G	A	MAP3K7	c.1535C>T	NM_145331.3	NP_663304.1:p.(Pro512Leu)	NC_000006.11:g.91228271G>A	(Likely) pathogenic	2 labs	01874661ca
16:15917227 MYH11 T>C	16	15917227	15917227	T	C	MYH11	c.387A>G	NM_001040113.2	NP_001035202.1:p.(Lys129=)	NC_000016.9:g.15917227T>C	(Likely) benign	2 labs	049ece4b92
9:94486863 ROR2 C>T	9	94486863	94486863	C	T	ROR2	c.1913G>A	NM_004560.4	NP_004551.2:p.(Arg638Gln)	NC_000009.11:g.94486863C>T	VUS	2 labs	018a2846d5
16:56912074 SLC12A3 G>T	16	56912074	56912074	G	T	SLC12A3	c.1180+1G>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56912074G>T	(Likely) pathogenic	2 labs	04af34bc05
9:35658020 CCDC107 C>T	9	35658020	35658020	C	T	CCDC107				NC_000009.11:g.35658020C>T	(Likely) benign	2 labs	018a8559d9
11:76872106 MYO7A C>T	11	76872106	76872106	C	T	MYO7A	c.1288C>T	NM_000260.4	NP_000251.3:p.(Arg430Cys)	NC_000011.9:g.76872106C>T	VUS	2 labs	0190a76cbb
13:32915005 BRCA2 G>T	13	32915005	32915005	G	T	BRCA2	c.6513G>T	NM_000059.3	NP_000050.2:p.(Val2171=)	NC_000013.10:g.32915005G>T	(Likely) benign	2 labs	34052752ca
7:6048703 PMS2 C>T	7	6048703	6048703	C	T	PMS2	c.-53G>A	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6048703C>T	(Likely) benign	2 labs	341afcb9de
14:23887583 MYH7 C>T	14	23887583	23887583	C	T	MYH7	c.4005G>A	NM_000257.4	NP_000248.2:p.(Ser1335=)	NC_000014.8:g.23887583C>T	(Likely) benign	2 labs	342dfb1ebf
9:138683625 KCNT1 C>T	9	138683625	138683625	C	T	KCNT1	c.3503-18C>T	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138683625C>T	(Likely) benign	2 labs	01a8d1ef17
17:41215970 BRCA1 T>G	17	41215970	41215970	T	G	BRCA1	c.5075-2A>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215970T>G	(Likely) pathogenic	2 labs	34ae9e7e06
11:77817941 ALG8 G>A	11	77817941	77817941	G	A	ALG8	c.1090C>T	NM_024079.5	NP_076984.2:p.(Arg364Ter)	NC_000011.9:g.77817941G>A	(Likely) pathogenic	4 labs	04be2d2813
16:81298254 BCO1 C>T	16	81298254	81298254	C	T	BCO1	c.481C>T	NM_017429.3	NP_059125.2:p.(Arg161Cys)	NC_000016.9:g.81298254C>T	(Likely) benign	2 labs	01b20d8bc9
2:215632255 BARD1 CA>TG	2	215632255	215632256	CA	TG	BARD1				NC_000002.11:g.215632255_215632256inv	(Likely) benign	2 labs	34fbd1311b
11:108186506 ATM G>A	11	108186506	108186506	G	A	ATM	c.6007-44G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186506G>A	(Likely) benign	2 labs	3561f3c461
16:2156891 PKD1 G>A	16	2156891	2156891	G	A	PKD1	c.7124C>T	NM_001009944.2	NP_001009944.2:p.(Ala2375Val)	NC_000016.9:g.2156891G>A	(Likely) benign	2 labs	04d52ceb82
17:7578265 TP53 A>G	17	7578265	7578265	A	G	TP53	c.584T>C	NM_000546.5	NP_000537.3:p.(Ile195Thr)	NC_000017.10:g.7578265A>G	(Likely) pathogenic	2 labs	35d48d3077
11:108178702 ATM G>C	11	108178702	108178702	G	C	ATM	c.5753G>C	NM_001351834.2	NP_001338763.1:p.(Arg1918Thr)	NC_000011.9:g.108178702G>C	VUS	2 labs	01d2b607bd
19:41117869 LTBP4 A>G	19	41117869	41117869	A	G	LTBP4	c.2359A>G	NM_001042544.1	NP_001036009.1:p.(Thr787Ala)	NC_000019.9:g.41117869A>G	(Likely) benign	2 labs	01defbfc94
14:23889361 MYH7 G>A	14	23889361	23889361	G	A	MYH7	c.3419C>T	NM_000257.4	NP_000248.2:p.(Ser1140Phe)	NC_000014.8:g.23889361G>A	VUS	2 labs	01e0c4d6db
1:100318245 AGL T>G	1	100318245	100318245	T	G	AGL	c.20T>G	NM_000646.2	NP_000637.2:p.(Ile7Ser)	NC_000001.10:g.100318245T>G	(Likely) benign	2 labs	0513dac7ad
1:1735935 GNB1 T>C	1	1735935	1735935	T	C	GNB1	c.353A>G	NM_002074.5	NP_002065.1:p.(Asp118Gly)	NC_000001.10:g.1735935T>C	(Likely) pathogenic	2 labs	051479a05c
2:136575199 LCT G>T	2	136575199	136575199	G	T	LCT	c.1419C>A	NM_002299.4	NP_002290.2:p.(Gly473=)	NC_000002.11:g.136575199G>T	(Likely) benign	2 labs	0211aa22f0
1:94473277 ABCA4 AC>A	1	94473277	94473278	AC	A	ABCA4	c.5917del	NM_000350.3	NP_000341.2:p.(Val1973Ter)	NC_000001.10:g.94473278del	(Likely) pathogenic	2 labs	387a78a7ea
11:108124486 ATM T>G	11	108124486	108124486	T	G	ATM	c.1899-55T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108124486T>G	(Likely) benign	2 labs	3895fb547b
14:23872634 MYH6 AC>A	14	23872634	23872637	AC	A	MYH6	c.820del	NM_002471.4	NP_002462.2:p.(Val274Ter)	NC_000014.8:g.23872637del	VUS	2 labs	38c5382f3f
11:108128377 ATM T>G	11	108128377	108128377	T	G	ATM	c.2376+44T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108128377T>G	(Likely) benign	2 labs	38e3693710
19:50771635 MYH14 T>C	19	50771635	50771635	T	C	MYH14	c.3033+11T>C	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50771635T>C	(Likely) benign	2 labs	38f728d0f4
11:108126874 ATM T>C	11	108126874	108126874	T	C	ATM	c.2125-68T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108126874T>C	(Likely) benign	2 labs	39bd300415
2:198362018 HSPD1 T>C	2	198362018	198362018	T	C	HSPD1	c.273A>G	NM_002156.5	NP_002147.2:p.(Lys91=)	NC_000002.11:g.198362018T>C	(Likely) benign	2 labs	0232ab14c5
6:31995139 C4B A>G	6	31995139	31995139	A	G	C4B	c.2719A>G	NM_001002029.4	NP_001002029.3:p.(Thr907Ala)	NC_000006.11:g.31995139A>G	(Likely) benign	2 labs	055a940454
2:48028028 MSH6 A>C	2	48028028	48028028	A	C	MSH6	c.2906A>C	NM_000179.3	NP_000170.1:p.(Tyr969Ser)	NC_000002.11:g.48028028A>C	VUS	2 labs	39fee2b7e2
7:128484891 FLNC G>A	7	128484891	128484891	G	A	FLNC	c.3372G>A	NM_001458.5	NP_001449.3:p.(Thr1124=)	NC_000007.13:g.128484891G>A	(Likely) benign	3 labs	055aa53c34
11:108128226 ATM G>A	11	108128226	108128226	G	A	ATM	c.2269G>A	NM_000051.4	NP_000042.3:p.(Gly757Arg)	NC_000011.9:g.108128226G>A	VUS	2 labs	3a103d1c2c
1:24194788 FUCA1 A>G	1	24194788	24194788	A	G	FUCA1				NC_000001.10:g.24194788A>G	(Likely) benign	2 labs	3a1c243610
8:126056215 WASHC5 G>GC	8	126056215	126056216	G	GC	WASHC5	c.2770+18_2770+19insG	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126056215_126056216insC	(Likely) benign	2 labs	3a4d9004f8
1:68910276 RPE65 C>T	1	68910276	68910276	C	T	RPE65	c.433G>A	NM_000329.3	NP_000320.1:p.(Ala145Thr)	NC_000001.10:g.68910276C>T	VUS	2 labs	3a39ecb55e
2:179454383 TTN C>T	2	179454383	179454383	C	T	TTN	c.62069G>A	NM_001267550.2	NP_001254479.2:p.(Arg20690Gln)	NC_000002.11:g.179454383C>T	VUS	2 labs	025571539c
14:50649223 SOS2 A>G	14	50649223	50649223	A	G	SOS2	c.816T>C	NM_006939.4	NP_008870.2:p.(Ser272=)	NC_000014.8:g.50649223A>G	(Likely) benign	2 labs	3a6d5a0378
10:73550170 CDH23 G>A	10	73550170	73550170	G	A	CDH23	c.6049G>A	NM_022124.6	NP_071407.4:p.(Gly2017Ser)	NC_000010.10:g.73550170G>A	(Likely) pathogenic	2 labs	3a954dc95d
2:179434611 TTN G>T	2	179434611	179434611	G	T	TTN	c.76248C>A	NM_001267550.2	NP_001254479.2:p.(Asp25416Glu)	NC_000002.11:g.179434611G>T	VUS	2 labs	025afe5a94
21:47410740 COL6A1 C>T	21	47410740	47410740	C	T	COL6A1	c.1056C>T	NM_001848.2	NP_001839.2:p.(Asp352=)	NC_000021.8:g.47410740C>T	(Likely) benign	2 labs	0579d579d1
9:441358 DOCK8 C>T	9	441358	441358	C	T	DOCK8	c.5296C>T	NM_203447.4	NP_982272.2:p.(Arg1766Trp)	NC_000009.11:g.441358C>T	(Likely) benign	2 labs	026c58bbe7
16:15829444 MYH11 GA>G	16	15829444	15829445	GA	G	MYH11	c.3315-10del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15829445del	(Likely) benign	2 labs	05a12b4094
12:48377499 COL2A1 G>A	12	48377499	48377499	G	A	COL2A1	c.1962C>T	NM_001844.5	NP_001835.3:p.(Gly654=)	NC_000012.11:g.48377499G>A	(Likely) pathogenic	2 labs	3bf01426cb
11:108201135 ATM A>G	11	108201135	108201135	A	G	ATM	c.7502A>G	NM_000051.4	NP_000042.3:p.(Asn2501Ser)	NC_000011.9:g.108201135A>G	VUS	2 labs	3c802e8e02
19:11333460 DOCK6 A>G	19	11333460	11333460	A	G	DOCK6	c.3296T>C	NM_001367830.1	NP_001354759.1:p.(Leu1099Pro)	NC_000019.9:g.11333460A>G	VUS	2 labs	3c6da3f015
10:73472431 CDH23 C>T	10	73472431	73472431	C	T	CDH23	c.3230C>T	NM_022124.6	NP_071407.4:p.(Pro1077Leu)	NC_000010.10:g.73472431C>T	VUS	2 labs	3d36848f04
7:150649531 KCNH2 G>A	7	150649531	150649531	G	A	KCNH2	c.1539C>T	NM_000238.4	NP_000229.1:p.(Phe513=)	NC_000007.13:g.150649531G>A	(Likely) benign	2 labs	3d462cde19
2:157185947 NR4A2 G>A	2	157185947	157185947	G	A	NR4A2	c.752C>T	NM_006186.4	NP_006177.1:p.(Pro251Leu)	NC_000002.11:g.157185947G>A	VUS	2 labs	02ae9b9916
12:6204619 VWF C>T	12	6204619	6204619	C	T	VWF	c.657+7G>A	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6204619C>T	(Likely) benign	2 labs	05da9fc1bf
8:10468172 RP1L1 G>A	8	10468172	10468172	G	A	RP1L1	c.3436C>T	NM_178857.6	NP_849188.4:p.(Arg1146Trp)	NC_000008.10:g.10468172G>A	(Likely) benign	2 labs	02b4d360b4
X:153608326 EMD C>T	X	153608326	153608326	C	T	EMD	c.212C>T	NM_000117.2	NP_000108.1:p.(Ala71Val)	NC_000023.10:g.153608326C>T	(Likely) benign	2 labs	05dedcfdfe
15:72103859 NR2E3 A>G	15	72103859	72103859	A	G	NR2E3	c.155A>G	NM_016346.4	NP_057430.1:p.(Asp52Gly)	NC_000015.9:g.72103859A>G	VUS	2 labs	3e466d03dd
9:140127675 SLC34A3 C>T	9	140127675	140127675	C	T	SLC34A3	c.575C>T	NM_080877.2	NP_543153.1:p.(Ser192Leu)	NC_000009.11:g.140127675C>T	(Likely) pathogenic	3 labs	05e7527a44
1:241675301 FH G>C	1	241675301	241675301	G	C	FH	c.521C>G	NM_000143.4	NP_000134.2:p.(Pro174Arg)	NC_000001.10:g.241675301G>C	(Likely) pathogenic	2 labs	02d24f78be
6:7585889 DSP T>A	6	7585889	7585889	T	A	DSP	c.8394T>A	NM_004415.2	NP_004406.2:p.(Thr2798=)	NC_000006.11:g.7585889T>A	(Likely) benign	2 labs	05f219b6a2
3:132402290 NPHP3 T>G	3	132402290	132402290	T	G	NPHP3	c.3649A>C	NM_153240.5	NP_694972.3:p.(Ser1217Arg)	NC_000003.11:g.132402290T>G	VUS	2 labs	02ddf8eb1f
6:7585772 DSP C>T	6	7585772	7585772	C	T	DSP	c.8277C>T	NM_004415.4	NP_004406.2:p.(Arg2759=)	NC_000006.11:g.7585772C>T	(Likely) benign	2 labs	3f885179fd
11:108159700 ATM T>C	11	108159700	108159700	T	C	ATM	c.4110-4T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108159700T>C	(Likely) benign	2 labs	3fc9392137
6:7568840 DSP A>C	6	7568840	7568840	A	C	DSP	c.1419+18A>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568840A>C	(Likely) benign	2 labs	3fe6f85097
2:179588257 TTN A>C	2	179588257	179588257	A	C	TTN	c.21570T>G	NM_001267550.2	NP_001254479.2:p.(Thr7190=)	NC_000002.11:g.179588257A>C	(Likely) benign	2 labs	02ed56f2c4
3:14172405 TMEM43 G>A	3	14172405	14172405	G	A	TMEM43	c.246G>A	NM_024334.3	NP_077310.1:p.(Pro82=)	NC_000003.11:g.14172405G>A	(Likely) benign	2 labs	40c8c75d14
3:48622343 COL7A1 C>T	3	48622343	48622343	C	T	COL7A1	c.4011G>A	NM_000094.4	NP_000085.1:p.(Pro1337=)	NC_000003.11:g.48622343C>T	(Likely) pathogenic	2 labs	0326f0de10
1:78401620 NEXN T>C	1	78401620	78401620	T	C	NEXN	c.1364T>C	NM_144573.4	NP_653174.3:p.(Ile455Thr)	NC_000001.10:g.78401620T>C	VUS	3 labs	03bd7f56a2
16:21730449 OTOA C>T	16	21730449	21730449	C	T	OTOA	c.1630-5C>T	NM_144672.4	NP_653273.3:p.?	NC_000016.9:g.21730449C>T	(Likely) benign	2 labs	032f082dfc
17:41246926 BRCA1 A>T	17	41246926	41246926	A	T	BRCA1	c.671-49T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41246926A>T	(Likely) benign	2 labs	42f89e2215
17:41256966 BRCA1 G>A	17	41256966	41256966	G	A	BRCA1	c.220C>T	NM_007294.3	NP_009225.1:p.(Gln74Ter)	NC_000017.10:g.41256966G>A	(Likely) pathogenic	2 labs	431fa87042
2:109393703 RANBP2 G>A	2	109393703	109393703	G	A	RANBP2	c.8599+16G>A	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109393703G>A	(Likely) benign	2 labs	03576d5ace
1:26392824 TRIM63 C>A	1	26392824	26392824	C	A	TRIM63	c.267G>T	NM_032588.4	NP_115977.2:p.(Val89=)	NC_000001.10:g.26392824C>A	(Likely) benign	2 labs	43613ce19e
6:7575506 DSP CT>C	6	7575506	7575517	CT	C	DSP	c.2437-11del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575517del	(Likely) benign	2 labs	437db96615
13:52509759 ATP7B GAC>G	13	52509759	52509764	GAC	G	ATP7B	c.4092_4093del	NM_000053.4	NP_000044.2:p.(Ser1365CysfsTer12)	NC_000013.10:g.52509763_52509764del	(Likely) pathogenic	2 labs	068e2c439b
12:125434692 DHX37 T>C	12	125434692	125434692	T	C	DHX37	c.3216+3A>G	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125434692T>C	(Likely) benign	2 labs	035d659fd9
11:45935384 PEX16 A>G	11	45935384	45935384	A	G	PEX16	c.873T>C	NM_004813.4	NP_004804.2:p.(Tyr291=)	NC_000011.9:g.45935384A>G	(Likely) benign	2 labs	036ab7522f
6:35477025 TULP1 C>G	6	35477025	35477025	C	G	TULP1	c.783G>C	NM_003322.6	NP_003313.3:p.(Lys261Asn)	NC_000006.11:g.35477025C>G	(Likely) benign	2 labs	036d1bfa6a
13:23898664 SGCG A>G	13	23898664	23898664	A	G	SGCG	c.860A>G	NM_000231.3	NP_000222.2:p.(Asn287Ser)	NC_000013.10:g.23898664A>G	(Likely) benign	2 labs	03790a92be
19:6713511 C3 G>A	19	6713511	6713511	G	A	C3	c.783C>T	NM_000064.2	NP_000055.2:p.(Tyr261=)	NC_000019.9:g.6713511G>A	(Likely) benign	2 labs	069f856f0d
10:89717756 PTEN C>T	10	89717756	89717756	C	T	PTEN	c.781C>T	NM_000314.8	NP_000305.3:p.(Gln261Ter)	NC_000010.10:g.89717756C>T	(Likely) pathogenic	2 labs	03947f1b53
14:23883068 MYH7 C>T	14	23883068	23883068	C	T	MYH7	c.5690G>A	NM_000257.4	NP_000248.2:p.(Arg1897His)	NC_000014.8:g.23883068C>T	VUS	2 labs	462979f3de
2:48026255 MSH6 G>A	2	48026255	48026255	G	A	MSH6	c.1133G>A	NM_000179.2	NP_000170.1:p.(Arg378Lys)	NC_000002.11:g.48026255G>A	(Likely) benign	2 labs	466e84855f
3:10088343 FANCD2 A>G	3	10088343	10088343	A	G	FANCD2	c.1214A>G	NM_033084.6	NP_149075.2:p.(Asn405Ser)	NC_000003.11:g.10088343A>G	(Likely) benign	2 labs	03ad8ab8de
1:26142090 SELENON G>A	1	26142090	26142090	G	A	SELENON	c.1654G>A	NM_020451.3	NP_065184.2:p.(Glu552Lys)	NC_000001.10:g.26142090G>A	VUS	2 labs	03c34f834a
2:166894419 SCN1A A>T	2	166894419	166894419	A	T	SCN1A	c.2813T>A	NM_001165963.4	NP_001159435.1:p.(Phe938Tyr)	NC_000002.11:g.166894419A>T	VUS	2 labs	47ca9a94ad
2:166166916 SCN2A G>A	2	166166916	166166916	G	A	SCN2A	c.781G>A	NM_021007.3	NP_066287.2:p.(Val261Met)	NC_000002.11:g.166166916G>A	(Likely) pathogenic	3 labs	06f131bf62
8:145742879 RECQL4 T>C	8	145742879	145742879	T	C	RECQL4	c.132A>G	NM_004260.4	NP_004251.4:p.(Glu44=)	NC_000008.10:g.145742879T>C	(Likely) benign	2 labs	03dc536126
11:111959625 SDHD C>T	11	111959625	111959625	C	T	SDHD	c.204C>T	NM_001276506.2	NP_001263435.1:p.(Ser68=)	NC_000011.9:g.111959625C>T	(Likely) benign	4 labs	070106467b
11:108216546 ATM G>A	11	108216546	108216546	G	A	ATM	c.8495G>A	NM_000051.4	NP_000042.3:p.(Arg2832His)	NC_000011.9:g.108216546G>A	VUS	2 labs	03e477d6c5
19:36322260 NPHS1 G>A	19	36322260	36322260	G	A	NPHS1	c.3325C>T	NM_004646.3	NP_004637.1:p.(Arg1109Ter)	NC_000019.9:g.36322260G>A	(Likely) pathogenic	2 labs	03eb562968
16:23641778 PALB2 C>T	16	23641778	23641778	C	T	PALB2	c.1697G>A	NM_024675.3	NP_078951.2:p.(Arg566His)	NC_000016.9:g.23641778C>T	(Likely) benign	3 labs	070d377146
13:32932079 BRCA2 A>G	13	32932079	32932079	A	G	BRCA2	c.7805+13A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32932079A>G	(Likely) benign	2 labs	48e4e2d0cc
16:56906371 SLC12A3 C>T	16	56906371	56906371	C	T	SLC12A3	c.961C>T	NM_000339.3	NP_000330.3:p.(Arg321Trp)	NC_000016.9:g.56906371C>T	(Likely) pathogenic	2 labs	072a86b86b
4:55593464 KIT A>C	4	55593464	55593464	A	C	KIT	c.1621A>C	NM_000222.3	NP_000213.1:p.(Met541Leu)	NC_000004.11:g.55593464A>C	(Likely) benign	4 labs	072f8545c8
19:13395956 CACNA1A T>C	19	13395956	13395956	T	C	CACNA1A	c.3630A>G	NM_023035.3	NP_075461.2:p.(Glu1210=)	NC_000019.9:g.13395956T>C	(Likely) benign	2 labs	0732556c12
17:59853887 BRIP1 G>A	17	59853887	59853887	G	A	BRIP1	c.1972C>T	NM_032043.3	NP_114432.2:p.(Arg658Trp)	NC_000017.10:g.59853887G>A	VUS	2 labs	4a996b26cc
1:78381724 NEXN T>C	1	78381724	78381724	T	C	NEXN	c.-52-16T>C	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78381724T>C	(Likely) benign	2 labs	073d692e13
16:2134692 TSC2 A>G	16	2134692	2134692	A	G	TSC2	c.4469A>G	NM_000548.5	NP_000539.2:p.(Glu1490Gly)	NC_000016.9:g.2134692A>G	(Likely) benign	2 labs	0456fea428
9:123780005 C5 G>A	9	123780005	123780005	G	A	C5	c.1632C>T	NM_001735.3	NP_001726.2:p.(Tyr544=)	NC_000009.11:g.123780005G>A	(Likely) benign	2 labs	045fb3d1c0
1:3319545 PRDM16 G>A	1	3319545	3319545	G	A	PRDM16	c.867G>A	NM_022114.4	NP_071397.3:p.(Met289Ile)	NC_000001.10:g.3319545G>A	(Likely) benign	2 labs	4c0620c447
22:51012854 CPT1B G>A	22	51012854	51012854	G	A	CPT1B	c.886-6C>T	NM_152245.3	NP_689451.1:p.?	NC_000022.10:g.51012854G>A	(Likely) benign	2 labs	075ff66495
3:14183233 TMEM43 G>A	3	14183233	14183233	G	A	TMEM43	c.1141G>A	NM_024334.3	NP_077310.1:p.(Gly381Ser)	NC_000003.11:g.14183233G>A	(Likely) benign	2 labs	37e6ad387f
11:46897180 LRP4 G>A	11	46897180	46897180	G	A	LRP4	c.3752C>T	NM_002334.4	NP_002325.2:p.(Pro1251Leu)	NC_000011.9:g.46897180G>A	VUS	2 labs	0471dff151
3:39431961 SLC25A38 C>G	3	39431961	39431961	C	G	SLC25A38	c.239C>G	NM_017875.4	NP_060345.2:p.(Thr80Arg)	NC_000003.11:g.39431961C>G	(Likely) benign	2 labs	0775164f5b
7:142460313 PRSS1 T>C	7	142460313	142460313	T	C	PRSS1	c.486T>C	NM_002769.5	NP_002760.1:p.(Asp162=)	NC_000007.13:g.142460313T>C	(Likely) benign	4 labs	048b269177
20:5935329 MCM8 A>T	20	5935329	5935329	A	T	MCM8	c.329A>T	NM_032485.5	NP_115874.3:p.(Tyr110Phe)	NC_000020.10:g.5935329A>T	(Likely) benign	2 labs	0780f9d6de
12:116457069 MED13L C>T	12	116457069	116457069	C	T	MED13L	c.969G>A	NM_015335.5	NP_056150.1:p.(Met323Ile)	NC_000012.11:g.116457069C>T	(Likely) benign	2 labs	04a6663b3d
2:241725861 KIF1A G>A	2	241725861	241725861	G	A	KIF1A	c.499C>T	NM_001244008.2	NP_001230937.1:p.(Arg167Cys)	NC_000002.11:g.241725861G>A	(Likely) pathogenic	2 labs	4e0b0881e6
17:60140614 MED13 T>C	17	60140614	60140614	T	C	MED13	c.115A>G	NM_005121.3	NP_005112.2:p.(Thr39Ala)	NC_000017.10:g.60140614T>C	(Likely) benign	2 labs	04b1b885f3
2:39285799 SOS1 G>A	2	39285799	39285799	G	A	SOS1	c.345+15C>T	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39285799G>A	(Likely) benign	2 labs	4e2a1bc4fd
2:179638315 TTN G>A	2	179638315	179638315	G	A	TTN	c.7468C>T	NM_001267550.2	NP_001254479.2:p.(Arg2490Cys)	NC_000002.11:g.179638315G>A	VUS	2 labs	04b3a15978
15:43910440 STRC A>G	15	43910440	43910440	A	G	STRC	c.179T>C	NM_153700.2	NP_714544.1:p.(Phe60Ser)	NC_000015.9:g.43910440A>G	(Likely) benign	2 labs	04b9aaea82
19:46268902 SIX5 C>T	19	46268902	46268902	C	T	SIX5	c.2077G>A	NM_175875.5	NP_787071.3:p.(Val693Met)	NC_000019.9:g.46268902C>T	(Likely) benign	3 labs	04bd9be4e6
2:169783827 ABCB11 G>A	2	169783827	169783827	G	A	ABCB11	c.3457C>T	NM_003742.4	NP_003733.2:p.(Arg1153Cys)	NC_000002.11:g.169783827G>A	(Likely) pathogenic	2 labs	0797dcb4c2
19:46269719 SIX5 C>T	19	46269719	46269719	C	T	SIX5	c.1498G>A	NM_175875.4	NP_787071.2:p.(Gly500Arg)	NC_000019.9:g.46269719C>T	(Likely) benign	2 labs	07bbdb5fc4
19:49699866 TRPM4 C>T	19	49699866	49699866	C	T	TRPM4	c.2380C>T	NM_017636.4	NP_060106.2:p.(Leu794=)	NC_000019.9:g.49699866C>T	(Likely) benign	2 labs	5056f3e899
19:17945696 JAK3 C>T	19	17945696	17945696	C	T	JAK3	c.2164G>A	NM_000215.3	NP_000206.2:p.(Val722Ile)	NC_000019.9:g.17945696C>T	(Likely) benign	2 labs	07c2c19e03
1:247588053 NLRP3 C>T	1	247588053	247588053	C	T	NLRP3	c.1302C>T	NM_001243133.2	NP_001230062.1:p.(Ser434=)	NC_000001.10:g.247588053C>T	(Likely) benign	3 labs	04f9c4331d
3:41280636 CTNNB1 C>T	3	41280636	41280636	C	T	CTNNB1	c.2149C>T	NM_001904.4	NP_001895.1:p.(Arg717Cys)	NC_000003.11:g.41280636C>T	VUS	2 labs	04fe479ee6
2:170053505 LRP2 C>T	2	170053505	170053505	C	T	LRP2	c.8614G>A	NM_004525.3	NP_004516.2:p.(Ala2872Thr)	NC_000002.11:g.170053505C>T	(Likely) benign	2 labs	051888188e
1:216498841 USH2A G>T	1	216498841	216498841	G	T	USH2A	c.949C>A	NM_206933.4	NP_996816.3:p.(Arg317=)	NC_000001.10:g.216498841G>T	(Likely) pathogenic	2 labs	511e26ff2f
10:121429633 BAG3 T>C	10	121429633	121429633	T	C	BAG3	c.451T>C	NM_004281.4	NP_004272.2:p.(Cys151Arg)	NC_000010.10:g.121429633T>C	(Likely) benign	3 labs	1c1b47c9c4
15:28228616 OCA2 G>A	15	28228616	28228616	G	A	OCA2	c.1378C>T	NM_000275.3	NP_000266.2:p.(Leu460Phe)	NC_000015.9:g.28228616G>A	VUS	2 labs	5199d9ca06
3:37067296 MLH1 C>T	3	37067296	37067296	C	T	MLH1	c.1207C>T	NM_000249.4	NP_000240.1:p.(Pro403Ser)	NC_000003.11:g.37067296C>T	VUS	2 labs	05470adab6
19:38780855 SPINT2 A>G	19	38780855	38780855	A	G	SPINT2	c.488A>G	NM_021102.4	NP_066925.1:p.(Tyr163Cys)	NC_000019.9:g.38780855A>G	(Likely) pathogenic	2 labs	07ff127c8d
11:108218101 ATM T>G	11	108218101	108218101	T	G	ATM	c.8671+9T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108218101T>G	(Likely) benign	2 labs	52bc89c730
4:5624727 EVC2 T>A	4	5624727	5624727	T	A	EVC2	c.2047-9A>T	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5624727T>A	(Likely) benign	2 labs	080eb8d53d
13:32905237 BRCA2 G>A	13	32905237	32905237	G	A	BRCA2	c.793+70G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905237G>A	(Likely) benign	2 labs	080ec73b2e
1:63881552 ALG6 C>T	1	63881552	63881552	C	T	ALG6	c.911C>T	NM_013339.4	NP_037471.2:p.(Ser304Phe)	NC_000001.10:g.63881552C>T	(Likely) benign	2 labs	0567b9cdd9
17:10539089 MYH3 G>A	17	10539089	10539089	G	A	MYH3	c.3938C>T	NM_002470.4	NP_002461.2:p.(Thr1313Ile)	NC_000017.10:g.10539089G>A	(Likely) benign	2 labs	533925566d
8:144995359 PLEC G>A	8	144995359	144995359	G	A	PLEC	c.8711C>T	NM_000445.5	NP_000436.2:p.(Thr2904Met)	NC_000008.10:g.144995359G>A	VUS	2 labs	056c5aa4f4
11:108158312 ATM T>C	11	108158312	108158312	T	C	ATM	c.3994-15T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158312T>C	(Likely) benign	2 labs	54039d28d5
9:87285689 NTRK2 G>T	9	87285689	87285689	G	T	NTRK2	c.26G>T	NM_006180.6	NP_006171.2:p.(Gly9Val)	NC_000009.11:g.87285689G>T	VUS	2 labs	54603dff35
8:77617828 ZFHX4 T>C	8	77617828	77617828	T	C	ZFHX4	c.1505T>C	NM_024721.5	NP_078997.4:p.(Leu502Pro)	NC_000008.10:g.77617828T>C	VUS	2 labs	05a6566dcb
8:145024570 PLEC C>T	8	145024570	145024570	C	T	PLEC	c.305G>A	NM_201380.4	NP_958782.1:p.(Arg102His)	NC_000008.10:g.145024570C>T	(Likely) benign	2 labs	08392d9e07
1:11300546 MTOR C>T	1	11300546	11300546	C	T	MTOR	c.1600G>A	NM_004958.4	NP_004949.1:p.(Asp534Asn)	NC_000001.10:g.11300546C>T	(Likely) benign	2 labs	05ab130d0d
X:32563265 DMD G>C	X	32563265	32563265	G	C	DMD	c.2168+11C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32563265G>C	(Likely) benign	2 labs	05b5c60bc0
17:41215937 BRCA1 TTTCAGTGTCCG>T	17	41215937	41215952	TTTCAGTGTCCG	T	BRCA1	c.5095_5105del	NM_007294.4	NP_009225.1:p.(Arg1699IlefsTer13)	NC_000017.10:g.41215942_41215952del	(Likely) pathogenic	2 labs	557b60baca
19:55450746 NLRP7 C>T	19	55450746	55450746	C	T	NLRP7	c.1441G>A	NM_001127255.1	NP_001120727.1:p.(Ala481Thr)	NC_000019.9:g.55450746C>T	(Likely) benign	2 labs	05b9dcadf3
11:108098266 ATM T>C	11	108098266	108098266	T	C	ATM	c.-30-56T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098266T>C	(Likely) benign	2 labs	5601254ae4
5:95768847 PCSK1 A>G	5	95768847	95768847	A	G	PCSK1	c.-101T>C	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95768847A>G	(Likely) benign	2 labs	0855fa0321
10:121436286 BAG3 C>T	10	121436286	121436286	C	T	BAG3	c.1220C>T	NM_004281.4	NP_004272.2:p.(Pro407Leu)	NC_000010.10:g.121436286C>T	(Likely) benign	2 labs	571454919b
11:108126894 ATM T>C	11	108126894	108126894	T	C	ATM	c.2125-48T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108126894T>C	(Likely) benign	2 labs	573910d168
2:208989037 CRYGD A>G	2	208989037	208989037	A	G	CRYGD	c.51T>C	NM_006891.4	NP_008822.2:p.(Tyr17=)	NC_000002.11:g.208989037A>G	(Likely) benign	2 labs	05e67fe99c
20:52774635 CYP24A1 A>G	20	52774635	52774635	A	G	CYP24A1	c.1226T>C	NM_000782.5	NP_000773.2:p.(Leu409Ser)	NC_000020.10:g.52774635A>G	(Likely) pathogenic	3 labs	086603f3a0
17:48267240 COL1A1 G>A	17	48267240	48267240	G	A	COL1A1	c.2593C>T	NM_000088.3	NP_000079.2:p.(Arg865Cys)	NC_000017.10:g.48267240G>A	VUS	2 labs	086ac4d789
7:30638425 GARS1 G>A	7	30638425	30638425	G	A	GARS1	c.74G>A	NM_001316772.1	NP_001303701.1:p.(Arg25Gln)	NC_000007.13:g.30638425G>A	VUS	2 labs	584115be56
6:161143608 PLG T>C	6	161143608	161143608	T	C	PLG	c.1256+9T>C	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161143608T>C	(Likely) benign	2 labs	06169fa713
2:179631092 TTN A>G	2	179631092	179631092	A	G	TTN	c.9703+16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179631092A>G	(Likely) benign	2 labs	062cec9b5e
12:121416622 HNF1A C>G	12	121416622	121416622	C	G	HNF1A	c.51C>G	NM_000545.8	NP_000536.6:p.(Leu17=)	NC_000012.11:g.121416622C>G	(Likely) benign	2 labs	088bcc7202
1:155874285 RIT1 A>C	1	155874285	155874285	A	C	RIT1	c.246T>G	NM_006912.6	NP_008843.1:p.(Phe82Leu)	NC_000001.10:g.155874285A>C	(Likely) pathogenic	2 labs	064fe1ae3b
7:128490103 FLNC G>A	7	128490103	128490103	G	A	FLNC	c.5273G>A	NM_001458.4	NP_001449.3:p.(Arg1758Gln)	NC_000007.13:g.128490103G>A	(Likely) benign	2 labs	0896c2865f
3:128622922 ACAD9 G>A	3	128622922	128622922	G	A	ACAD9	c.976G>A	NM_014049.5	NP_054768.2:p.(Ala326Thr)	NC_000003.11:g.128622922G>A	(Likely) benign	3 labs	34bb53ec18
2:48030462 MSH6 T>C	2	48030462	48030462	T	C	MSH6	c.3173-97T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030462T>C	(Likely) benign	2 labs	5b3d36cb02
9:141016155 CACNA1B G>C	9	141016155	141016155	G	C	CACNA1B	c.6724G>C	NM_000718.4	NP_000709.1:p.(Asp2242His)	NC_000009.11:g.141016155G>C	(Likely) benign	2 labs	34be9b4e6b
15:58853079 LIPC C>A	15	58853079	58853079	C	A	LIPC	c.1068C>A	NM_000236.3	NP_000227.2:p.(Phe356Leu)	NC_000015.9:g.58853079C>A	(Likely) benign	2 labs	06874ed3f9
7:6043425 PMS2 T>G	7	6043425	6043425	T	G	PMS2	c.251-2A>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043425T>G	(Likely) pathogenic	2 labs	068b71c0a9
2:73717921 ALMS1 C>G	2	73717921	73717921	C	G	ALMS1	c.8838C>G	NM_015120.4	NP_055935.4:p.(Asn2946Lys)	NC_000002.11:g.73717921C>G	(Likely) benign	3 labs	08ba516044
17:33434132 RAD51D A>G	17	33434132	33434132	A	G	RAD51D	c.355T>C	NM_002878.4	NP_002869.3:p.(Cys119Arg)	NC_000017.10:g.33434132A>G	VUS	2 labs	5c167aa155
10:86004873 RGR T>C	10	86004873	86004873	T	C	RGR	c.27T>C	NM_002921.4	NP_002912.2:p.(Thr9=)	NC_000010.10:g.86004873T>C	(Likely) benign	2 labs	069305e5b9
16:89813299 FANCA C>G	16	89813299	89813299	C	G	FANCA	c.3349-1G>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89813299C>G	(Likely) pathogenic	2 labs	06966ada3c
1:197398590 CRB1 T>A	1	197398590	197398590	T	A	CRB1	c.2616T>A	NM_001257965.2	NP_001244894.1:p.(Cys872Ter)	NC_000001.10:g.197398590T>A	(Likely) pathogenic	2 labs	5c64702107
17:41209009 BRCA1 G>GGGAGTGGAATAC	17	41209009	41209021	G	GGGAGTGGAATAC	BRCA1	c.5277+48_5277+59dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41209010_41209021dup	(Likely) benign	2 labs	08d36504ee
12:6690297 CHD4 C>T	12	6690297	6690297	C	T	CHD4	c.4822G>A	NM_001273.5	NP_001264.2:p.(Val1608Ile)	NC_000012.11:g.6690297C>T	VUS	2 labs	069f7c6c8f
13:32929232 BRCA2 A>T	13	32929232	32929232	A	T	BRCA2	c.7242A>T	NM_000059.3	NP_000050.2:p.(Ser2414=)	NC_000013.10:g.32929232A>T	(Likely) benign	2 labs	5caaa3655f
16:81819768 PLCG2 T>C	16	81819768	81819768	T	C	PLCG2	c.174T>C	NM_002661.5	NP_002652.2:p.(Ala58=)	NC_000016.9:g.81819768T>C	(Likely) benign	2 labs	5cb30a49b3
13:32890523 BRCA2 C>G	13	32890523	32890523	C	G	BRCA2	c.-39-36C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890523C>G	(Likely) benign	2 labs	5cdb7c52f0
11:27695731 BDNF CAT>C	11	27695731	27695733	CAT	C	BDNF	c.99_100del	NM_001143810.2	NP_001137282.1:p.(Cys34PhefsTer12)	NC_000011.9:g.27695732_27695733del	(Likely) benign	2 labs	08d9b8cb88
6:65655759 EYS G>A	6	65655759	65655759	G	A	EYS	c.2308C>T	NM_001292009.2	NP_001278938.1:p.(Gln770Ter)	NC_000006.11:g.65655759G>A	(Likely) pathogenic	2 labs	5d0e9f37dc
21:47406441 COL6A1 G>A	21	47406441	47406441	G	A	COL6A1	c.430G>A	NM_001848.3	NP_001839.2:p.(Gly144Ser)	NC_000021.8:g.47406441G>A	VUS	2 labs	1d1e74936c
6:51747943 PKHD1 T>A	6	51747943	51747943	T	A	PKHD1	c.7298A>T	NM_138694.4	NP_619639.3:p.(Asp2433Val)	NC_000006.11:g.51747943T>A	(Likely) benign	2 labs	08e63d482e
4:5785408 EVC GC>G	4	5785408	5785409	GC	G	EVC	c.1694del	NM_153717.3	NP_714928.1:p.(Ala565ValfsTer23)	NC_000004.11:g.5785409del	(Likely) pathogenic	2 labs	5db71fd2d6
16:23637756 PALB2 G>C	16	23637756	23637756	G	C	PALB2	c.2587-38C>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23637756G>C	(Likely) benign	2 labs	5de9bdb325
11:119077232 CBL GCAC>G	11	119077232	119077254	GCAC	G	CBL	c.125_127del	NM_005188.4	NP_005179.2:p.(His42del)	NC_000011.9:g.119077252_119077254del	(Likely) benign	2 labs	08fb13676a
14:105179344 INF2 C>T	14	105179344	105179344	C	T	INF2	c.2775+15C>T	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105179344C>T	(Likely) benign	2 labs	5e0d52532c
17:41277308 BRCA1 G>A	17	41277308	41277308	G	A	BRCA1	c.-40C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277308G>A	(Likely) benign	2 labs	5e58de639a
1:215933171 USH2A G>A	1	215933171	215933171	G	A	USH2A	c.11062C>T	NM_206933.4	NP_996816.3:p.(Pro3688Ser)	NC_000001.10:g.215933171G>A	VUS	2 labs	5e5cd16afe
2:179393818 TTN C>T	2	179393818	179393818	C	T	TTN	c.98956G>A	NM_133378.4	NP_596869.4:p.(Glu32986Lys)	NC_000002.11:g.179393818C>T	VUS	2 labs	5e846c05de
12:8988238 A2ML1 G>C	12	8988238	8988238	G	C	A2ML1	c.619G>C	NM_144670.6	NP_653271.3:p.(Gly207Arg)	NC_000012.11:g.8988238G>C	(Likely) benign	2 labs	5ec191ee9e
12:103240705 PAH C>T	12	103240705	103240705	C	T	PAH	c.937G>A	NM_000277.3	NP_000268.1:p.(Ala313Thr)	NC_000012.11:g.103240705C>T	(Likely) pathogenic	3 labs	0918001585
16:23652525 PALB2 C>T	16	23652525	23652525	C	T	PALB2	c.-47G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23652525C>T	(Likely) benign	2 labs	5f172deacd
1:16375063 CLCNKB C>G	1	16375063	16375063	C	G	CLCNKB	c.641C>G	NM_000085.5	NP_000076.2:p.(Ala214Gly)	NC_000001.10:g.16375063C>G	(Likely) benign	2 labs	06e6ff4b9a
11:108178738 ATM G>A	11	108178738	108178738	G	A	ATM	c.5762+27G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108178738G>A	(Likely) benign	2 labs	5f3c6d0d83
6:52343941 EFHC1 T>C	6	52343941	52343941	T	C	EFHC1	c.1385T>C	NM_018100.4	NP_060570.2:p.(Ile462Thr)	NC_000006.11:g.52343941T>C	(Likely) benign	2 labs	09224131e4
2:47657131 MSH2 C>A	2	47657131	47657131	C	A	MSH2	c.1276+51C>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47657131C>A	(Likely) benign	2 labs	5f8ebf5507
14:23859571 MYH6 G>A	14	23859571	23859571	G	A	MYH6	c.3427C>T	NM_002471.4	NP_002462.2:p.(Arg1143Trp)	NC_000014.8:g.23859571G>A	VUS	3 labs	07008eb969
1:147230978 GJA5 G>A	1	147230978	147230978	G	A	GJA5	c.369C>T	NM_005266.7	NP_005257.2:p.(Tyr123=)	NC_000001.10:g.147230978G>A	(Likely) benign	2 labs	606ec7627f
4:114277309 ANK2 A>T	4	114277309	114277309	A	T	ANK2	c.7535A>T	NM_001148.6	NP_001139.3:p.(Asp2512Val)	NC_000004.11:g.114277309A>T	VUS	2 labs	60d5c80028
6:129762042 LAMA2 C>A	6	129762042	129762042	C	A	LAMA2	c.6167C>A	NM_000426.4	NP_000417.3:p.(Thr2056Lys)	NC_000006.11:g.129762042C>A	(Likely) benign	2 labs	60cd9c931a
19:4816688 TICAM1 C>T	19	4816688	4816688	C	T	TICAM1	c.1702G>A	NM_182919.4	NP_891549.1:p.(Ala568Thr)	NC_000019.9:g.4816688C>T	(Likely) benign	2 labs	071c7f0727
10:79581028 DLG5 G>A	10	79581028	79581028	G	A	DLG5	c.3214C>T	NM_004747.4	NP_004738.3:p.(Arg1072Cys)	NC_000010.10:g.79581028G>A	(Likely) benign	2 labs	0947e771b4
3:148917664 CP A>G	3	148917664	148917664	A	G	CP	c.1349-13T>C	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148917664A>G	(Likely) benign	2 labs	616f3345d5
21:45709568 AIRE C>T	21	45709568	45709568	C	T	AIRE	c.681C>T	NM_000383.4	NP_000374.1:p.(Gly227=)	NC_000021.8:g.45709568C>T	(Likely) benign	3 labs	814297b357
2:240016771 HDAC4 C>T	2	240016771	240016771	C	T	HDAC4	c.2219-19G>A	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240016771C>T	(Likely) benign	2 labs	073e9f9afb
11:108202139 ATM T>G	11	108202139	108202139	T	G	ATM	c.7516-32T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202139T>G	(Likely) benign	2 labs	621cd19466
11:118362611 KMT2A C>G	11	118362611	118362611	C	G	KMT2A	c.4972C>G	NM_001197104.2	NP_001184033.1:p.(Arg1658Gly)	NC_000011.9:g.118362611C>G	VUS	2 labs	074b122f62
17:10535806 MYH3 T>G	17	10535806	10535806	T	G	MYH3	c.4943A>C	NM_002470.4	NP_002461.2:p.(Gln1648Pro)	NC_000017.10:g.10535806T>G	VUS	2 labs	07553b525c
4:55972029 KDR C>T	4	55972029	55972029	C	T	KDR	c.1615G>A	NM_002253.3	NP_002244.1:p.(Gly539Arg)	NC_000004.11:g.55972029C>T	(Likely) benign	2 labs	07635f6bf9
16:23614847 PALB2 G>A	16	23614847	23614847	G	A	PALB2	c.3494C>T	NM_024675.4	NP_078951.2:p.(Ser1165Leu)	NC_000016.9:g.23614847G>A	(Likely) benign	2 labs	0768e7330c
1:94508322 ABCA4 C>A	1	94508322	94508322	C	A	ABCA4	c.3323G>T	NM_000350.3	NP_000341.2:p.(Arg1108Leu)	NC_000001.10:g.94508322C>A	(Likely) pathogenic	2 labs	6350ebec85
X:110644383 DCX C>A	X	110644383	110644383	C	A	DCX	c.783G>T	NM_000555.3	NP_000546.2:p.(Lys261Asn)	NC_000023.10:g.110644383C>A	(Likely) pathogenic	2 labs	097d9ea907
11:108168130 ATM G>GGC	11	108168130	108168131	G	GGC	ATM	c.5005+21_5005+22insGC	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108168130_108168131insGC	(Likely) benign	2 labs	63d1fd3e3a
2:71190384 ATP6V1B1 C>T	2	71190384	71190384	C	T	ATP6V1B1	c.1002C>T	NM_001692.4	NP_001683.2:p.(Arg334=)	NC_000002.11:g.71190384C>T	(Likely) benign	2 labs	078e74d235
11:108192112 ATM T>G	11	108192112	108192112	T	G	ATM	c.6537T>G	NM_000051.4	NP_000042.3:p.(Ile2179Met)	NC_000011.9:g.108192112T>G	VUS	2 labs	645fa64985
10:102568893 PAX2 G>C	10	102568893	102568893	G	C	PAX2	c.819G>C	NM_003988.5	NP_003979.2:p.(Leu273=)	NC_000010.10:g.102568893G>C	(Likely) benign	2 labs	64957aef80
1:216051206 USH2A G>A	1	216051206	216051206	G	A	USH2A	c.8575C>T	NM_206933.4	NP_996816.3:p.(Arg2859Cys)	NC_000001.10:g.216051206G>A	VUS	2 labs	64badca35e
2:44528165 SLC3A1 G>A	2	44528165	44528165	G	A	SLC3A1	c.1035G>A	NM_000341.4	NP_000332.2:p.(Glu345=)	NC_000002.11:g.44528165G>A	(Likely) benign	2 labs	099991558a
X:49049888 SYP C>T	X	49049888	49049888	C	T	SYP	c.456G>A	NM_003179.3	NP_003170.1:p.(Met152Ile)	NC_000023.10:g.49049888C>T	VUS	2 labs	65840a8988
4:995586 IDUA C>T	4	995586	995586	C	T	IDUA	c.709C>T	NM_000203.5	NP_000194.2:p.(Leu237Phe)	NC_000004.11:g.995586C>T	(Likely) benign	2 labs	0000177d23
17:29676104 NF1 CTTGT>C	17	29676104	29676130	CTTGT	C	NF1	c.7190-11_7190-8del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676127_29676130del	(Likely) benign	3 labs	0006fefb95
4:106320294 PPA2 G>A	4	106320294	106320294	G	A	PPA2	c.683C>T	NM_176869.3	NP_789845.1:p.(Pro228Leu)	NC_000004.11:g.106320294G>A	(Likely) pathogenic	5 labs	0008a92382
8:145738093 RECQL4 C>T	8	145738093	145738093	C	T	RECQL4	c.2817G>A	NM_004260.4	NP_004251.4:p.(Ala939=)	NC_000008.10:g.145738093C>T	(Likely) benign	4 labs	0009c3f535
2:179610906 TTN C>T	2	179610906	179610906	C	T	TTN	c.16221G>A	NM_133379.5	NP_596870.2:p.(Pro5407=)	NC_000002.11:g.179610906C>T	(Likely) benign	2 labs	000c6ff00d
2:220285576 DES C>T	2	220285576	220285576	C	T	DES	c.924C>T	NM_001927.4	NP_001918.3:p.(Asn308=)	NC_000002.11:g.220285576C>T	(Likely) benign	2 labs	00177cc3e0
19:38946182 RYR1 G>A	19	38946182	38946182	G	A	RYR1	c.1668G>A	NM_000540.3	NP_000531.2:p.(Ser556=)	NC_000019.9:g.38946182G>A	(Likely) benign	3 labs	001db581bb
16:2103467 TSC2 C>T	16	2103467	2103467	C	T	TSC2	c.336+14C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2103467C>T	(Likely) benign	2 labs	0029da8567
1:3732008 CEP104 G>A	1	3732008	3732008	G	A	CEP104	c.2736C>T	NM_014704.4	NP_055519.1:p.(Gly912=)	NC_000001.10:g.3732008G>A	(Likely) benign	3 labs	002a3f3390
11:68157526 LRP5 G>C	11	68157526	68157526	G	C	LRP5	c.-354+3346G>C	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68157526G>C	(Likely) benign	2 labs	002b2298f5
2:74087290 STAMBP T>C	2	74087290	74087290	T	C	STAMBP	c.1218+12T>C	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74087290T>C	(Likely) benign	2 labs	00474bd5cd
11:108196189 ATM C>CA	11	108196189	108196190	C	CA	ATM	c.6726dup	NM_000051.4	NP_000042.3:p.(Gln2243ThrfsTer6)	NC_000011.9:g.108196190dup	(Likely) pathogenic	2 labs	0061913309
11:68671419 IGHMBP2 C>T	11	68671419	68671419	C	T	IGHMBP2	c.-2C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68671419C>T	(Likely) benign	2 labs	006bb2521c
5:112173877 APC C>G	5	112173877	112173877	C	G	APC	c.2586C>G	NM_000038.6	NP_000029.2:p.(Asn862Lys)	NC_000005.9:g.112173877C>G	(Likely) benign	3 labs	007ec55409
9:134381487 POMT1 G>GTT	9	134381487	134381496	G	GTT	POMT1	c.123-6_123-5dup	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134381495_134381496dup	(Likely) benign	2 labs	0073975dc0
10:90974672 LIPA T>C	10	90974672	90974672	T	C	LIPA	c.1113A>G	NM_000235.4	NP_000226.2:p.(Glu371=)	NC_000010.10:g.90974672T>C	(Likely) benign	2 labs	0088f7949c
6:100841364 SIM1 A>G	6	100841364	100841364	A	G	SIM1	c.1569T>C	NM_005068.3	NP_005059.2:p.(His523=)	NC_000006.11:g.100841364A>G	(Likely) benign	2 labs	008e94de56
19:36219702 KMT2B C>T	19	36219702	36219702	C	T	KMT2B	c.4599C>T	NM_014727.3	NP_055542.1:p.(Pro1533=)	NC_000019.9:g.36219702C>T	(Likely) benign	2 labs	0091be156d
16:88494335 ZNF469 C>G	16	88494335	88494335	C	G	ZNF469	c.457C>G	NM_001367624.2	NP_001354553.1:p.(Pro153Ala)	NC_000016.9:g.88494335C>G	(Likely) benign	2 labs	00a4dfc411
2:170115537 LRP2 G>A	2	170115537	170115537	G	A	LRP2	c.2511C>T	NM_004525.3	NP_004516.2:p.(Ala837=)	NC_000002.11:g.170115537G>A	(Likely) benign	3 labs	00a74afcd6
2:179516828 TTN G>C	2	179516828	179516828	G	C	TTN	c.39290C>G	NM_001267550.2	NP_001254479.2:p.(Pro13097Arg)	NC_000002.11:g.179516828G>C	VUS	2 labs	00b8082ce5
15:48782039 FBN1 AC>A	15	48782039	48782040	AC	A	FBN1	c.3082+8del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48782040del	(Likely) benign	2 labs	00b8ffbdd9
X:90690586 PABPC5 G>A	X	90690586	90690586	G	A	PABPC5	c.10G>A	NM_080832.3	NP_543022.1:p.(Gly4Arg)	NC_000023.10:g.90690586G>A	(Likely) benign	2 labs	00bae0e886
10:112404343 RBM20 C>A	10	112404343	112404343	C	A	RBM20	c.131C>A	NM_001134363.3	NP_001127835.2:p.(Pro44Gln)	NC_000010.10:g.112404343C>A	(Likely) benign	2 labs	00bafb48df
6:7583702 DSP C>T	6	7583702	7583702	C	T	DSP	c.6207C>T	NM_004415.4	NP_004406.2:p.(Val2069=)	NC_000006.11:g.7583702C>T	(Likely) benign	2 labs	00bb715ee0
10:104678841 CNNM2 G>A	10	104678841	104678841	G	A	CNNM2	c.604G>A	NM_199076.3	NP_951058.1:p.(Ala202Thr)	NC_000010.10:g.104678841G>A	(Likely) benign	2 labs	00c6b8ddc1
2:152424933 NEB T>TA	2	152424933	152424946	T	TA	NEB	c.17635-3dup	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152424946dup	(Likely) benign	4 labs	00c2860417
16:88496148 ZNF469 T>G	16	88496148	88496148	T	G	ZNF469	c.2270T>G	NM_001367624.2	NP_001354553.1:p.(Leu757Arg)	NC_000016.9:g.88496148T>G	(Likely) benign	2 labs	00dbb6d3a8
17:41244964 BRCA1 T>C	17	41244964	41244964	T	C	BRCA1	c.2584A>G	NM_007294.4	NP_009225.1:p.(Lys862Glu)	NC_000017.10:g.41244964T>C	(Likely) benign	4 labs	00e4506cb7
1:3329269 PRDM16 C>T	1	3329269	3329269	C	T	PRDM16	c.2508C>T	NM_022114.4	NP_071397.3:p.(Gly836=)	NC_000001.10:g.3329269C>T	(Likely) benign	4 labs	00e8499a12
2:179628899 TTN C>T	2	179628899	179628899	C	T	TTN	c.10114+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179628899C>T	(Likely) benign	4 labs	0100f79933
X:32536244 DMD C>A	X	32536244	32536244	C	A	DMD	c.2173G>T	NM_004006.3	NP_003997.2:p.(Asp725Tyr)	NC_000023.10:g.32536244C>A	(Likely) benign	2 labs	00fbcf7d50
22:50885628 SBF1 G>A	22	50885628	50885628	G	A	SBF1	c.5625C>T	NM_002972.4	NP_002963.2:p.(Asp1875=)	NC_000022.10:g.50885628G>A	(Likely) benign	2 labs	0102f9ef64
11:19206535 CSRP3 T>C	11	19206535	19206535	T	C	CSRP3	c.472A>G	NM_003476.5	NP_003467.1:p.(Asn158Asp)	NC_000011.9:g.19206535T>C	VUS	2 labs	01031f3a54
8:19822810 LPL C>T	8	19822810	19822810	C	T	LPL	c.1428-11C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822810C>T	(Likely) benign	2 labs	0106250050
4:88537306 DSPP T>C	4	88537306	88537306	T	C	DSPP	c.3492T>C	NM_014208.3	NP_055023.2:p.(Asp1164=)	NC_000004.11:g.88537306T>C	(Likely) benign	3 labs	010680bed0
10:12111065 DHTKD1 G>A	10	12111065	12111065	G	A	DHTKD1	c.33G>A	NM_018706.7	NP_061176.4:p.(Arg11=)	NC_000010.10:g.12111065G>A	(Likely) benign	2 labs	010779114d
18:29102037 DSG2 T>A	18	29102037	29102037	T	A	DSG2	c.524-9T>A	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29102037T>A	(Likely) benign	4 labs	0110bcfdc9
6:119136759 MCM9 A>C	6	119136759	119136759	A	C	MCM9	c.2660T>G	NM_017696.3	NP_060166.2:p.(Met887Arg)	NC_000006.11:g.119136759A>C	(Likely) benign	2 labs	011ab3f921
10:55912942 PCDH15 C>T	10	55912942	55912942	C	T	PCDH15	c.1717G>A	NM_001142771.2	NP_001136243.1:p.(Ala573Thr)	NC_000010.10:g.55912942C>T	(Likely) benign	2 labs	012d11b3c6
22:50903253 SBF1 T>C	22	50903253	50903253	T	C	SBF1	c.1426A>G	NM_002972.4	NP_002963.2:p.(Lys476Glu)	NC_000022.10:g.50903253T>C	VUS	2 labs	0141f7c955
2:179398728 TTN C>T	2	179398728	179398728	C	T	TTN	c.102614G>A	NM_001267550.2	NP_001254479.2:p.(Gly34205Asp)	NC_000002.11:g.179398728C>T	VUS	2 labs	0149bdd347
22:29085112 CHEK2 A>T	22	29085112	29085112	A	T	CHEK2	c.1542+11T>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085112A>T	(Likely) benign	4 labs	014a617a12
14:105180607 INF2 T>C	14	105180607	105180607	T	C	INF2	c.3108T>C	NM_022489.4	NP_071934.3:p.(Leu1036=)	NC_000014.8:g.105180607T>C	(Likely) benign	3 labs	014fd9e85a
10:69281701 CTNNA3 A>T	10	69281701	69281701	A	T	CTNNA3	c.478T>A	NM_013266.4	NP_037398.2:p.(Ser160Thr)	NC_000010.10:g.69281701A>T	(Likely) benign	5 labs	0155838d5f
17:41059631 G6PC1 G>A	17	41059631	41059631	G	A	G6PC1	c.355G>A	NM_001270397.2	NP_001257326.1:p.(Asp119Asn)	NC_000017.10:g.41059631G>A	(Likely) benign	2 labs	016aa25489
7:91667736 AKAP9 A>G	7	91667736	91667736	A	G	AKAP9	c.4342A>G	NM_005751.5	NP_005742.4:p.(Ile1448Val)	NC_000007.13:g.91667736A>G	(Likely) benign	3 labs	0176bd9c0c
6:137187814 PEX7 C>T	6	137187814	137187814	C	T	PEX7	c.576C>T	NM_000288.4	NP_000279.1:p.(Ile192=)	NC_000006.11:g.137187814C>T	(Likely) benign	2 labs	01843d633e
X:73811648 RLIM G>A	X	73811648	73811648	G	A	RLIM	c.1502C>T	NM_183353.3	NP_899196.1:p.(Ser501Leu)	NC_000023.10:g.73811648G>A	(Likely) benign	2 labs	01943eaa62
16:1252152 CACNA1H G>A	16	1252152	1252152	G	A	CACNA1H	c.1702G>A	NM_021098.3	NP_066921.2:p.(Asp568Asn)	NC_000016.9:g.1252152G>A	(Likely) benign	2 labs	0197578fdd
19:1219421 STK11 G>A	19	1219421	1219421	G	A	STK11	c.464+9G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1219421G>A	(Likely) benign	2 labs	019d3cde26
17:48265975 COL1A1 G>A	17	48265975	48265975	G	A	COL1A1	c.3123C>T	NM_000088.4	NP_000079.2:p.(Pro1041=)	NC_000017.10:g.48265975G>A	(Likely) benign	2 labs	01ad30b48d
11:68204445 LRP5 C>T	11	68204445	68204445	C	T	LRP5	c.2346C>T	NM_001291902.2	NP_001278831.1:p.(Asp782=)	NC_000011.9:g.68204445C>T	(Likely) benign	2 labs	01ad7453d9
9:98211588 PTCH1 G>A	9	98211588	98211588	G	A	PTCH1	c.3567C>T	NM_000264.5	NP_000255.2:p.(Gly1189=)	NC_000009.11:g.98211588G>A	(Likely) benign	2 labs	01b513204b
1:156105741 LMNA G>A	1	156105741	156105741	G	A	LMNA	c.986G>A	NM_170707.4	NP_733821.1:p.(Arg329His)	NC_000001.10:g.156105741G>A	VUS	3 labs	01b87879f4
15:48800870 FBN1 G>A	15	48800870	48800870	G	A	FBN1	c.1746C>T	NM_000138.5	NP_000129.3:p.(Cys582=)	NC_000015.9:g.48800870G>A	(Likely) benign	2 labs	01c1b7faa8
2:241660387 KIF1A G>T	2	241660387	241660387	G	T	KIF1A	c.4812C>A	NM_001244008.2	NP_001230937.1:p.(Thr1604=)	NC_000002.11:g.241660387G>T	(Likely) benign	3 labs	01c2764fd4
6:1611569 FOXC1 C>T	6	1611569	1611569	C	T	FOXC1	c.889C>T	NM_001453.3	NP_001444.2:p.(Pro297Ser)	NC_000006.11:g.1611569C>T	(Likely) benign	3 labs	01e40e8fe0
2:179424396 TTN T>C	2	179424396	179424396	T	C	TTN	c.86463A>G	NM_001267550.2	NP_001254479.2:p.(Gly28821=)	NC_000002.11:g.179424396T>C	(Likely) benign	6 labs	01e83df3b1
20:744168 SLC52A3 C>T	20	744168	744168	C	T	SLC52A3	c.1047G>A	NM_033409.4	NP_212134.3:p.(Ser349=)	NC_000020.10:g.744168C>T	(Likely) benign	2 labs	01f865bc68
2:241728663 KIF1A G>A	2	241728663	241728663	G	A	KIF1A	c.173C>T	NM_001244008.2	NP_001230937.1:p.(Ser58Leu)	NC_000002.11:g.241728663G>A	(Likely) pathogenic	2 labs	01f9fd2886
1:22902827 EPHA8 G>A	1	22902827	22902827	G	A	EPHA8	c.277G>A	NM_020526.5	NP_065387.1:p.(Gly93Ser)	NC_000001.10:g.22902827G>A	VUS	2 labs	01fa840572
2:179644160 TTN T>C	2	179644160	179644160	T	C	TTN	c.3759A>G	NM_001267550.2	NP_001254479.2:p.(Arg1253=)	NC_000002.11:g.179644160T>C	(Likely) benign	3 labs	01fee71c03
10:67726402 CTNNA3 G>C	10	67726402	67726402	G	C	CTNNA3	c.2368C>G	NM_013266.4	NP_037398.2:p.(Gln790Glu)	NC_000010.10:g.67726402G>C	VUS	2 labs	0204b6efd7
1:3329370 PRDM16 C>T	1	3329370	3329370	C	T	PRDM16	c.2603+6C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3329370C>T	(Likely) benign	5 labs	021520882d
15:48805804 FBN1 C>T	15	48805804	48805804	C	T	FBN1	c.1530G>A	NM_000138.5	NP_000129.3:p.(Ser510=)	NC_000015.9:g.48805804C>T	(Likely) benign	2 labs	0212240722
19:615791 HCN2 G>T	19	615791	615791	G	T	HCN2	c.1991-4G>T	NM_001194.4	NP_001185.3:p.?	NC_000019.9:g.615791G>T	(Likely) benign	2 labs	021729e9a8
7:151432987 PRKAG2 G>A	7	151432987	151432987	G	A	PRKAG2	c.93C>T	NM_001304527.2	NP_001291456.1:p.(Phe31=)	NC_000007.13:g.151432987G>A	(Likely) benign	2 labs	022b21e3e5
16:70299456 AARS1 C>T	16	70299456	70299456	C	T	AARS1	c.1332G>A	NM_001605.3	NP_001596.2:p.(Glu444=)	NC_000016.9:g.70299456C>T	(Likely) benign	3 labs	022d9040c3
15:89761790 RLBP1 C>T	15	89761790	89761790	C	T	RLBP1	c.141+6G>A	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89761790C>T	(Likely) benign	2 labs	02320eba20
12:110236432 TRPV4 G>A	12	110236432	110236432	G	A	TRPV4	c.1139C>T	NM_021625.5	NP_067638.3:p.(Thr380Met)	NC_000012.11:g.110236432G>A	VUS	2 labs	0233f4664b
2:238451308 MLPH TGGGGGGCAGTGGTGAGTGGAGACAGTGCTGAGTG>T	2	238451308	238451361	TGGGGGGCAGTGGTGAGTGGAGACAGTGCTGAGTG	T	MLPH	c.1539+26_1539+59del	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238451328_238451361del	(Likely) benign	2 labs	02349e45b0
11:117209381 CEP164 C>A	11	117209381	117209381	C	A	CEP164	c.79C>A	NM_014956.5	NP_055771.4:p.(Gln27Lys)	NC_000011.9:g.117209381C>A	(Likely) benign	2 labs	0237d5f2d0
17:41246567 BRCA1 T>C	17	41246567	41246567	T	C	BRCA1	c.981A>G	NM_007294.4	NP_009225.1:p.(Thr327=)	NC_000017.10:g.41246567T>C	(Likely) benign	5 labs	0243e2e9e4
10:88458996 LDB3 TTCTCTC>T	10	88458996	88459025	TTCTCTC	T	LDB3	c.1100+6692_1100+6697del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88459020_88459025del	(Likely) benign	3 labs	02434df771
4:79410108 FRAS1 C>T	4	79410108	79410108	C	T	FRAS1	c.8832C>T	NM_025074.7	NP_079350.5:p.(Ser2944=)	NC_000004.11:g.79410108C>T	(Likely) benign	3 labs	0247c7d8f2
6:79655901 PHIP G>A	6	79655901	79655901	G	A	PHIP	c.4447C>T	NM_017934.7	NP_060404.4:p.(Arg1483Ter)	NC_000006.11:g.79655901G>A	(Likely) pathogenic	2 labs	024b975814
16:31202354 FUS C>T	16	31202354	31202354	C	T	FUS	c.1464C>T	NM_004960.4	NP_004951.1:p.(Gly488=)	NC_000016.9:g.31202354C>T	(Likely) benign	3 labs	02547213d5
12:21995312 ABCC9 C>T	12	21995312	21995312	C	T	ABCC9	c.3409G>A	NM_020297.4	NP_064693.2:p.(Val1137Ile)	NC_000012.11:g.21995312C>T	(Likely) benign	4 labs	02602dd25e
4:120085468 MYOZ2 C>T	4	120085468	120085468	C	T	MYOZ2	c.479C>T	NM_016599.5	NP_057683.1:p.(Pro160Leu)	NC_000004.11:g.120085468C>T	VUS	3 labs	0260c776f8
4:68606400 GNRHR C>T	4	68606400	68606400	C	T	GNRHR	c.785G>A	NM_000406.3	NP_000397.1:p.(Arg262Gln)	NC_000004.11:g.68606400C>T	(Likely) pathogenic	3 labs	026338b406
19:11314763 DOCK6 G>T	19	11314763	11314763	G	T	DOCK6	c.5229C>A	NM_020812.4	NP_065863.2:p.(Gly1743=)	NC_000019.9:g.11314763G>T	(Likely) benign	2 labs	026923160d
14:88459413 GALC C>A	14	88459413	88459413	C	A	GALC	c.96G>T	NM_000153.4	NP_000144.2:p.(Leu32=)	NC_000014.8:g.88459413C>A	(Likely) benign	2 labs	0273304a20
11:88960984 TYR T>A	11	88960984	88960984	T	A	TYR	c.1037-7T>A	NM_000372.5	NP_000363.1:p.?	NC_000011.9:g.88960984T>A	(Likely) pathogenic	5 labs	02775cdb9d
X:129272596 AIFM1 G>A	X	129272596	129272596	G	A	AIFM1	c.939C>T	NM_001130847.4	NP_001124319.1:p.(Ser313=)	NC_000023.10:g.129272596G>A	(Likely) benign	2 labs	027b85816d
X:76855053 ATRX AAAAC>A	X	76855053	76855076	AAAAC	A	ATRX	c.5787-8_5787-5del	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76855073_76855076del	(Likely) benign	3 labs	027d8bc8f1
1:196642979 CFH C>T	1	196642979	196642979	C	T	CFH	c.245-8C>T	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642979C>T	(Likely) benign	3 labs	027ecfe0c8
2:179440203 TTN T>C	2	179440203	179440203	T	C	TTN	c.70656A>G	NM_001267550.2	NP_001254479.2:p.(Ala23552=)	NC_000002.11:g.179440203T>C	(Likely) benign	2 labs	02849e9230
11:116703671 APOC3 G>T	11	116703671	116703671	G	T	APOC3	c.*71G>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703671G>T	(Likely) benign	2 labs	02949328f3
15:23892083 MAGEL2 G>T	15	23892083	23892083	G	T	MAGEL2	c.807C>A	NM_019066.5	NP_061939.3:p.(Thr269=)	NC_000015.9:g.23892083G>T	(Likely) benign	2 labs	029c4de921
2:179445129 TTN T>C	2	179445129	179445129	T	C	TTN	c.66977A>G	NM_001267550.2	NP_001254479.2:p.(Lys22326Arg)	NC_000002.11:g.179445129T>C	(Likely) benign	3 labs	029ccc203d
4:57797037 REST G>T	4	57797037	57797037	G	T	REST	c.2013G>T	NM_001363453.2	NP_001350382.1:p.(Glu671Asp)	NC_000004.11:g.57797037G>T	(Likely) benign	2 labs	029e25bc17
21:44473980 CBS G>T	21	44473980	44473980	G	T	CBS	c.*10C>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44473980G>T	(Likely) benign	2 labs	02a3382854
2:179442757 TTN GC>G	2	179442757	179442758	GC	G	TTN	c.68484del	NM_001267550.2	NP_001254479.2:p.(Lys22828AsnfsTer26)	NC_000002.11:g.179442758del	(Likely) pathogenic	5 labs	02b0fbd12c
12:88484613 CEP290 C>T	12	88484613	88484613	C	T	CEP290	c.3465G>A	NM_025114.4	NP_079390.3:p.(Leu1155=)	NC_000012.11:g.88484613C>T	(Likely) benign	2 labs	02a7125ec4
9:111692143 ELP1 C>T	9	111692143	111692143	C	T	ELP1	c.209G>A	NM_003640.5	NP_003631.2:p.(Arg70His)	NC_000009.11:g.111692143C>T	(Likely) benign	2 labs	02b99724e7
20:45358092 SLC2A10 G>A	20	45358092	45358092	G	A	SLC2A10	c.1512G>A	NM_030777.4	NP_110404.1:p.(Ser504=)	NC_000020.10:g.45358092G>A	(Likely) benign	3 labs	02ba63cac2
16:49823390 ZNF423 G>A	16	49823390	49823390	G	A	ZNF423	c.-105+8C>T	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49823390G>A	(Likely) benign	3 labs	02bad6f7c2
17:40696233 NAGLU C>G	17	40696233	40696233	C	G	NAGLU	c.2209C>G	NM_000263.4	NP_000254.2:p.(Arg737Gly)	NC_000017.10:g.40696233C>G	(Likely) benign	3 labs	02bc73e054
6:32017143 TNXB C>T	6	32017143	32017143	C	T	TNXB	c.9655G>A	NM_019105.8	NP_061978.6:p.(Val3219Met)	NC_000006.11:g.32017143C>T	(Likely) benign	2 labs	02c4ade49c
4:126412106 FAT4 C>G	4	126412106	126412106	C	G	FAT4	c.14135C>G	NM_001291303.3	NP_001278232.1:p.(Ser4712Cys)	NC_000004.11:g.126412106C>G	(Likely) benign	3 labs	02d2f98db5
10:121431871 BAG3 G>A	10	121431871	121431871	G	A	BAG3	c.612G>A	NM_004281.4	NP_004272.2:p.(Gly204=)	NC_000010.10:g.121431871G>A	(Likely) benign	2 labs	02e9bcd76d
4:120072098 MYOZ2 C>T	4	120072098	120072098	C	T	MYOZ2	c.148C>T	NM_016599.5	NP_057683.1:p.(Leu50Phe)	NC_000004.11:g.120072098C>T	VUS	2 labs	0306071f03
22:19753444 TBX1 G>A	22	19753444	19753444	G	A	TBX1	c.928G>A	NM_080647.1	NP_542378.1:p.(Gly310Ser)	NC_000022.10:g.19753444G>A	(Likely) benign	3 labs	0307bdaa35
6:110012665 FIG4 C>T	6	110012665	110012665	C	T	FIG4	c.27C>T	NM_014845.6	NP_055660.1:p.(Ile9=)	NC_000006.11:g.110012665C>T	(Likely) benign	2 labs	030b07f1c1
11:6651945 DCHS1 C>T	11	6651945	6651945	C	T	DCHS1	c.4080G>A	NM_003737.4	NP_003728.1:p.(Ala1360=)	NC_000011.9:g.6651945C>T	(Likely) benign	3 labs	030ea1c6b4
2:238283605 COL6A3 G>A	2	238283605	238283605	G	A	COL6A3	c.3129C>T	NM_004369.4	NP_004360.2:p.(Gly1043=)	NC_000002.11:g.238283605G>A	(Likely) benign	3 labs	0319ad9ea7
6:135621622 AHI1 TGAA>T	6	135621622	135621629	TGAA	T	AHI1	c.3485+13_3485+15del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135621627_135621629del	(Likely) benign	2 labs	031c4a43ac
10:119014023 SLC18A2 C>T	10	119014023	119014023	C	T	SLC18A2	c.700+15C>T	NM_003054.6	NP_003045.2:p.?	NC_000010.10:g.119014023C>T	(Likely) benign	2 labs	0325acdff4
7:128490958 FLNC C>T	7	128490958	128490958	C	T	FLNC	c.5500C>T	NM_001458.5	NP_001449.3:p.(His1834Tyr)	NC_000007.13:g.128490958C>T	VUS	2 labs	0336cec98d
5:156665109 ITK A>T	5	156665109	156665109	A	T	ITK	c.769-10A>T	NM_005546.4	NP_005537.3:p.?	NC_000005.9:g.156665109A>T	(Likely) benign	2 labs	0344c028cc
10:68138951 CTNNA3 G>A	10	68138951	68138951	G	A	CTNNA3	c.1691C>T	NM_013266.4	NP_037398.2:p.(Thr564Met)	NC_000010.10:g.68138951G>A	VUS	2 labs	034a2112e8
11:116707001 APOA1 C>T	11	116707001	116707001	C	T	APOA1	c.327G>A	NM_000039.3	NP_000030.1:p.(Glu109=)	NC_000011.9:g.116707001C>T	(Likely) benign	2 labs	034ea83be7
1:225707033 ENAH ATCCAGGCGTTCCTGCCGC>A	1	225707033	225707104	ATCCAGGCGTTCCTGCCGC	A	ENAH	c.651_668del	NM_001008493.3	NP_001008493.1:p.(Glu217_Leu222del)	NC_000001.10:g.225707087_225707104del	(Likely) benign	2 labs	034f265ff1
17:7915650 GUCY2D C>T	17	7915650	7915650	C	T	GUCY2D	c.1938C>T	NM_000180.4	NP_000171.1:p.(Leu646=)	NC_000017.10:g.7915650C>T	(Likely) benign	2 labs	03666e8f55
4:110772701 LRIT3 C>T	4	110772701	110772701	C	T	LRIT3	c.158C>T	NM_198506.5	NP_940908.3:p.(Thr53Met)	NC_000004.11:g.110772701C>T	(Likely) benign	2 labs	03674716ae
14:89343626 TTC8 T>C	14	89343626	89343626	T	C	TTC8	c.838-12T>C	NM_001288782.1	NP_001275711.1:p.?	NC_000014.8:g.89343626T>C	(Likely) benign	3 labs	036ad9d633
11:17531320 USH1C G>A	11	17531320	17531320	G	A	USH1C	c.1596C>T	NM_153676.4	NP_710142.1:p.(Phe532=)	NC_000011.9:g.17531320G>A	(Likely) benign	2 labs	0373b69bf5
X:154743712 TMLHE G>A	X	154743712	154743712	G	A	TMLHE	c.573C>T	NM_018196.4	NP_060666.1:p.(Phe191=)	NC_000023.10:g.154743712G>A	(Likely) benign	3 labs	03775a5417
18:12344255 AFG3L2 A>G	18	12344255	12344255	A	G	AFG3L2	c.1664-9T>C	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12344255A>G	(Likely) benign	3 labs	038f700e5b
X:130419111 IGSF1 G>C	X	130419111	130419111	G	C	IGSF1	c.709C>G	NM_205833.4	NP_991402.1:p.(Pro237Ala)	NC_000023.10:g.130419111G>C	(Likely) benign	3 labs	03949364e8
12:22089534 ABCC9 A>G	12	22089534	22089534	A	G	ABCC9	c.75T>C	NM_020297.4	NP_064693.2:p.(Phe25=)	NC_000012.11:g.22089534A>G	(Likely) benign	2 labs	0394ca5fe3
3:38593010 SCN5A GAGA>G	3	38593010	38593018	GAGA	G	SCN5A	c.4850_4852del	NM_198056.3	NP_932173.1:p.(Phe1617del)	NC_000003.11:g.38593016_38593018del	(Likely) pathogenic	2 labs	0397b66766
16:89603231 SPG7 C>T	16	89603231	89603231	C	T	SPG7	c.1383C>T	NM_199367.3	NP_955399.1:p.(Thr461=)	NC_000016.9:g.89603231C>T	(Likely) benign	2 labs	039b92c7cf
19:50412687 NUP62 C>T	19	50412687	50412687	C	T	NUP62	c.378G>A	NM_016553.5	NP_057637.2:p.(Ser126=)	NC_000019.9:g.50412687C>T	(Likely) benign	2 labs	03a379d75f
7:91700199 AKAP9 A>T	7	91700199	91700199	A	T	AKAP9	c.6508-20A>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91700199A>T	(Likely) benign	2 labs	03a44606d8
7:128490840 FLNC C>T	7	128490840	128490840	C	T	FLNC	c.5399-17C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490840C>T	(Likely) benign	2 labs	03a9d3dc74
9:108536246 TMEM38B G>C	9	108536246	108536246	G	C	TMEM38B	c.761G>C	NM_018112.3	NP_060582.1:p.(Cys254Ser)	NC_000009.11:g.108536246G>C	(Likely) benign	2 labs	03af6d4c74
12:1965235 CACNA2D4 G>A	12	1965235	1965235	G	A	CACNA2D4	c.2095C>T	NM_172364.5	NP_758952.4:p.(Leu699Phe)	NC_000012.11:g.1965235G>A	(Likely) benign	2 labs	03b131447f
5:112175023 APC A>G	5	112175023	112175023	A	G	APC	c.3732A>G	NM_000038.6	NP_000029.2:p.(Gln1244=)	NC_000005.9:g.112175023A>G	(Likely) benign	2 labs	03b5b1505d
21:47685317 MCM3AP G>A	21	47685317	47685317	G	A	MCM3AP	c.3152C>T	NM_003906.5	NP_003897.2:p.(Pro1051Leu)	NC_000021.8:g.47685317G>A	(Likely) benign	2 labs	03bba9ec18
2:179645857 TTN G>T	2	179645857	179645857	G	T	TTN	c.3514C>A	NM_001267550.2	NP_001254479.2:p.(Leu1172Ile)	NC_000002.11:g.179645857G>T	VUS	4 labs	03bdc163a1
2:179642590 TTN G>A	2	179642590	179642590	G	A	TTN	c.4321C>T	NM_001267550.2	NP_001254479.2:p.(Arg1441Cys)	NC_000002.11:g.179642590G>A	VUS	3 labs	03c7c97c28
2:15432775 NBAS C>T	2	15432775	15432775	C	T	NBAS	c.4913G>A	NM_015909.4	NP_056993.2:p.(Arg1638His)	NC_000002.11:g.15432775C>T	(Likely) benign	4 labs	03c963a7c3
1:12061532 MFN2 C>T	1	12061532	12061532	C	T	MFN2	c.891C>T	NM_014874.4	NP_055689.1:p.(Ala297=)	NC_000001.10:g.12061532C>T	(Likely) benign	2 labs	03cca311cf
10:88466436 LDB3 T>A	10	88466436	88466436	T	A	LDB3	c.1045T>A	NM_007078.3	NP_009009.1:p.(Ser349Thr)	NC_000010.10:g.88466436T>A	(Likely) benign	2 labs	03cdc81562
3:38591907 SCN5A C>T	3	38591907	38591907	C	T	SCN5A	c.5953G>A	NM_000335.5	NP_000326.2:p.(Asp1985Asn)	NC_000003.11:g.38591907C>T	VUS	2 labs	03d0885e66
14:23899072 MYH7 A>G	14	23899072	23899072	A	G	MYH7	c.1050T>C	NM_000257.4	NP_000248.2:p.(Tyr350=)	NC_000014.8:g.23899072A>G	(Likely) benign	3 labs	03d9e4be39
12:6458377 SCNN1A AG>A	12	6458377	6458378	AG	A	SCNN1A	c.1626del	NM_001159576.2	NP_001153048.1:p.(Tyr543ThrfsTer13)	NC_000012.11:g.6458378del	(Likely) pathogenic	2 labs	03dbd2ed55
18:47095866 LIPG C>T	18	47095866	47095866	C	T	LIPG	c.519C>T	NM_006033.4	NP_006024.1:p.(His173=)	NC_000018.9:g.47095866C>T	(Likely) benign	2 labs	03df2bd84b
17:41256124 BRCA1 A>G	17	41256124	41256124	A	G	BRCA1	c.441+15T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256124A>G	(Likely) benign	2 labs	03e79ffba7
2:21229032 APOB G>A	2	21229032	21229032	G	A	APOB	c.10708C>T	NM_000384.3	NP_000375.3:p.(His3570Tyr)	NC_000002.11:g.21229032G>A	VUS	2 labs	03e7cb19b8
1:17313283 ATP13A2 C>T	1	17313283	17313283	C	T	ATP13A2	c.3235+17G>A	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17313283C>T	(Likely) benign	2 labs	03e93a4f3a
2:179454763 TTN G>A	2	179454763	179454763	G	A	TTN	c.61689C>T	NM_001267550.2	NP_001254479.2:p.(Ile20563=)	NC_000002.11:g.179454763G>A	(Likely) benign	2 labs	03eadb4fec
11:76919484 MYO7A G>A	11	76919484	76919484	G	A	MYO7A	c.5866G>A	NM_000260.4	NP_000251.3:p.(Val1956Ile)	NC_000011.9:g.76919484G>A	(Likely) benign	4 labs	03ed0bfabb
7:128475627 FLNC C>T	7	128475627	128475627	C	T	FLNC	c.600C>T	NM_001458.5	NP_001449.3:p.(Pro200=)	NC_000007.13:g.128475627C>T	(Likely) benign	4 labs	03ee20342e
14:23866385 MYH6 C>T	14	23866385	23866385	C	T	MYH6	c.2044G>A	NM_002471.4	NP_002462.2:p.(Ala682Thr)	NC_000014.8:g.23866385C>T	VUS	2 labs	03fe986dd8
5:89938766 ADGRV1 G>T	5	89938766	89938766	G	T	ADGRV1	c.2461G>T	NM_032119.4	NP_115495.3:p.(Glu821Ter)	NC_000005.9:g.89938766G>T	(Likely) pathogenic	2 labs	03ffd10d0c
5:73163831 ARHGEF28 C>T	5	73163831	73163831	C	T	ARHGEF28	c.2283C>T	NM_001080479.3	NP_001073948.2:p.(Gly761=)	NC_000005.9:g.73163831C>T	(Likely) benign	2 labs	0404cd5ce6
15:48703571 FBN1 C>T	15	48703571	48703571	C	T	FBN1	c.8232G>A	NM_000138.5	NP_000129.3:p.(Gln2744=)	NC_000015.9:g.48703571C>T	(Likely) benign	4 labs	04051d1834
10:69299446 CTNNA3 T>A	10	69299446	69299446	T	A	CTNNA3	c.293-19A>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69299446T>A	(Likely) benign	2 labs	040c0ef5cb
2:21266774 APOB GGCAGCGCCA>G	2	21266774	21266799	GGCAGCGCCA	G	APOB	c.35_43del	NM_000384.3	NP_000375.3:p.(Leu12_Leu14del)	NC_000002.11:g.21266791_21266799del	(Likely) benign	2 labs	041f4bc4c3
X:153363099 MECP2 C>CGCGGCG	X	153363099	153363119	C	CGCGGCG	MECP2	c.18_23dup	NM_001110792.2	NP_001104262.1:p.(Ala7_Ala8dup)	NC_000023.10:g.153363114_153363119dup	(Likely) benign	2 labs	042dbf3433
12:56737251 STAT2 C>A	12	56737251	56737251	C	A	STAT2	c.2478G>T	NM_005419.4	NP_005410.1:p.(Gln826His)	NC_000012.11:g.56737251C>A	(Likely) benign	2 labs	042f0df00b
10:88441480 LDB3 G>A	10	88441480	88441480	G	A	LDB3	c.609G>A	NM_001171610.2	NP_001165081.1:p.(Ser203=)	NC_000010.10:g.88441480G>A	(Likely) benign	5 labs	04301be359
8:55541007 RP1 G>A	8	55541007	55541007	G	A	RP1	c.4565G>A	NM_006269.2	NP_006260.1:p.(Gly1522Asp)	NC_000008.10:g.55541007G>A	(Likely) benign	2 labs	04350bd1a2
13:32968844 BRCA2 A>G	13	32968844	32968844	A	G	BRCA2	c.9275A>G	NM_000059.4	NP_000050.3:p.(Tyr3092Cys)	NC_000013.10:g.32968844A>G	(Likely) benign	3 labs	0436ffa5e4
17:41063346 G6PC1 CCTT>C	17	41063346	41063351	CCTT	C	G6PC1	c.980_982del	NM_000151.4	NP_000142.2:p.(Phe327del)	NC_000017.10:g.41063349_41063351del	(Likely) pathogenic	3 labs	044ae6b6d3
X:102192261 RAB40AL C>T	X	102192261	102192261	C	T	RAB40AL	c.15C>T	NM_001031834.1	NP_001027004.1:p.(Gly5=)	NC_000023.10:g.102192261C>T	(Likely) benign	2 labs	043b41a2d9
3:167506992 SERPINI1 A>G	3	167506992	167506992	A	G	SERPINI1	c.76A>G	NM_005025.5	NP_005016.1:p.(Ile26Val)	NC_000003.11:g.167506992A>G	(Likely) benign	2 labs	0448e6dbba
4:126336105 FAT4 A>G	4	126336105	126336105	A	G	FAT4	c.5987A>G	NM_001291303.3	NP_001278232.1:p.(Lys1996Arg)	NC_000004.11:g.126336105A>G	(Likely) benign	4 labs	044ecc238d
2:179598098 TTN G>A	2	179598098	179598098	G	A	TTN	c.15922C>T	NM_001267550.2	NP_001254479.2:p.(Arg5308Ter)	NC_000002.11:g.179598098G>A	VUS	2 labs	045866c4aa
3:123457853 MYLK G>C	3	123457853	123457853	G	C	MYLK	c.479C>G	NM_053025.4	NP_444253.3:p.(Pro160Arg)	NC_000003.11:g.123457853G>C	(Likely) benign	3 labs	0461b4a902
X:152960526 SLC6A8 C>T	X	152960526	152960526	C	T	SLC6A8	c.1738-3C>T	NM_001142805.2	NP_001136277.1:p.?	NC_000023.10:g.152960526C>T	(Likely) benign	3 labs	04633cb200
12:33031100 PKP2 C>T	12	33031100	33031100	C	T	PKP2	c.714G>A	NM_004572.4	NP_004563.2:p.(Pro238=)	NC_000012.11:g.33031100C>T	(Likely) benign	4 labs	04654dd36f
17:63159202 RGS9 G>A	17	63159202	63159202	G	A	RGS9	c.495G>A	NM_003835.4	NP_003826.2:p.(Gln165=)	NC_000017.10:g.63159202G>A	(Likely) benign	2 labs	046f37bc7f
8:100287418 VPS13B A>G	8	100287418	100287418	A	G	VPS13B	c.2760A>G	NM_017890.5	NP_060360.3:p.(Leu920=)	NC_000008.10:g.100287418A>G	(Likely) benign	4 labs	0476701eb9
19:45411093 APOE C>T	19	45411093	45411093	C	T	APOE	c.198C>T	NM_001302688.2	NP_001289617.1:p.(Ser66=)	NC_000019.9:g.45411093C>T	(Likely) benign	2 labs	0489daecf3
11:46722685 ZNF408 G>C	11	46722685	46722685	G	C	ZNF408	c.22G>C	NM_001184751.2	NP_001171680.1:p.(Gly8Arg)	NC_000011.9:g.46722685G>C	(Likely) benign	3 labs	048f1b130e
11:62459850 BSCL2 G>A	11	62459850	62459850	G	A	BSCL2	c.861C>T	NM_001122955.4	NP_001116427.1:p.(Leu287=)	NC_000011.9:g.62459850G>A	(Likely) benign	2 labs	0495ae9daf
20:10644614 JAG1 C>T	20	10644614	10644614	C	T	JAG1	c.436G>A	NM_000214.3	NP_000205.1:p.(Val146Ile)	NC_000020.10:g.10644614C>T	(Likely) benign	4 labs	04a693d5fd
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln296_Gln305dup)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	2 labs	04ab6c2de5
6:56328426 DST A>G	6	56328426	56328426	A	G	DST	c.16467T>C	NM_001144769.5	NP_001138241.1:p.(Thr5489=)	NC_000006.11:g.56328426A>G	(Likely) benign	2 labs	04a7527fdb
7:128478820 FLNC C>T	7	128478820	128478820	C	T	FLNC	c.1374C>T	NM_001458.5	NP_001449.3:p.(Pro458=)	NC_000007.13:g.128478820C>T	(Likely) benign	4 labs	04af213afc
X:56591689 UBQLN2 G>A	X	56591689	56591689	G	A	UBQLN2	c.1383G>A	NM_013444.4	NP_038472.2:p.(Gly461=)	NC_000023.10:g.56591689G>A	(Likely) benign	3 labs	04bd5383a0
1:237774133 RYR2 C>T	1	237774133	237774133	C	T	RYR2	c.4755C>T	NM_001035.3	NP_001026.2:p.(Arg1585=)	NC_000001.10:g.237774133C>T	(Likely) benign	3 labs	04c0712f56
20:10625804 JAG1 T>G	20	10625804	10625804	T	G	JAG1	c.2214A>C	NM_000214.3	NP_000205.1:p.(Thr738=)	NC_000020.10:g.10625804T>G	(Likely) benign	3 labs	04c80ea33f
1:11298631 MTOR G>A	1	11298631	11298631	G	A	MTOR	c.1830C>T	NM_004958.4	NP_004949.1:p.(Phe610=)	NC_000001.10:g.11298631G>A	(Likely) benign	4 labs	04c9158e31
6:71010101 COL9A1 A>G	6	71010101	71010101	A	G	COL9A1	c.89-12T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71010101A>G	(Likely) benign	3 labs	04cae66806
12:25362854 KRAS C>T	12	25362854	25362854	C	T	KRAS	c.*5-9G>A	NM_033360.4	NP_203524.1:p.?	NC_000012.11:g.25362854C>T	(Likely) benign	2 labs	04cfc0f737
X:32235149 DMD G>A	X	32235149	32235149	G	A	DMD	c.6322C>T	NM_004006.3	NP_003997.2:p.(Arg2108Cys)	NC_000023.10:g.32235149G>A	(Likely) benign	2 labs	04cfeeafec
13:32911172 BRCA2 G>A	13	32911172	32911172	G	A	BRCA2	c.2680G>A	NM_000059.4	NP_000050.3:p.(Val894Ile)	NC_000013.10:g.32911172G>A	(Likely) benign	6 labs	04edd6dbb9
7:128492868 FLNC C>T	7	128492868	128492868	C	T	FLNC	c.6005-14C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492868C>T	(Likely) benign	2 labs	04f3ca9503
19:30193732 C19orf12 C>T	19	30193732	30193732	C	T	C19orf12	c.346G>A	NM_001031726.3	NP_001026896.2:p.(Val116Met)	NC_000019.9:g.30193732C>T	(Likely) benign	3 labs	04f64f05d9
X:77244235 ATP7A G>A	X	77244235	77244235	G	A	ATP7A	c.610+8G>A	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77244235G>A	(Likely) benign	2 labs	0513772979
19:10283754 DNMT1 A>T	19	10283754	10283754	A	T	DNMT1	c.768+12T>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10283754A>T	(Likely) benign	2 labs	052010dc2b
11:118366482 KMT2A C>T	11	118366482	118366482	C	T	KMT2A	c.5431C>T	NM_001197104.2	NP_001184033.1:p.(Arg1811Ter)	NC_000011.9:g.118366482C>T	(Likely) pathogenic	2 labs	052481a14c
12:987482 WNK1 G>A	12	987482	987482	G	A	WNK1	c.3567G>A	NM_001184985.2	NP_001171914.1:p.(Gln1189=)	NC_000012.11:g.987482G>A	(Likely) benign	3 labs	052cf7de40
7:153750096 DPP6 G>A	7	153750096	153750096	G	A	DPP6	c.191G>A	NM_130797.4	NP_570629.2:p.(Gly64Asp)	NC_000007.13:g.153750096G>A	(Likely) benign	2 labs	05320e365f
6:7576527 DSP G>A	6	7576527	7576527	G	A	DSP	c.2631G>A	NM_004415.4	NP_004406.2:p.(Arg877=)	NC_000006.11:g.7576527G>A	(Likely) benign	4 labs	0550c032b4
3:193335608 OPA1 G>A	3	193335608	193335608	G	A	OPA1	c.592G>A	NM_130837.3	NP_570850.2:p.(Asp198Asn)	NC_000003.11:g.193335608G>A	VUS	3 labs	055077861a
18:29126255 DSG2 C>T	18	29126255	29126255	C	T	DSG2	c.2906C>T	NM_001943.5	NP_001934.2:p.(Ala969Val)	NC_000018.9:g.29126255C>T	(Likely) benign	2 labs	05514e2bd1
8:55540268 RP1 C>T	8	55540268	55540268	C	T	RP1	c.3826C>T	NM_006269.2	NP_006260.1:p.(Pro1276Ser)	NC_000008.10:g.55540268C>T	(Likely) benign	2 labs	055f40e4e5
7:82584704 PCLO A>G	7	82584704	82584704	A	G	PCLO	c.5565T>C	NM_033026.6	NP_149015.2:p.(Ser1855=)	NC_000007.13:g.82584704A>G	(Likely) benign	2 labs	055f5a49cb
1:109441559 GPSM2 AC>A	1	109441559	109441561	AC	A	GPSM2	c.742del	NM_013296.5	NP_037428.3:p.(Gly249GlufsTer32)	NC_000001.10:g.109441561del	(Likely) pathogenic	3 labs	05622599eb
2:179486663 TTN G>A	2	179486663	179486663	G	A	TTN	c.44986C>T	NM_001267550.2	NP_001254479.2:p.(Arg14996Cys)	NC_000002.11:g.179486663G>A	VUS	3 labs	05685cdfe2
1:94497412 ABCA4 C>G	1	94497412	94497412	C	G	ABCA4	c.4050G>C	NM_000350.3	NP_000341.2:p.(Leu1350=)	NC_000001.10:g.94497412C>G	(Likely) benign	3 labs	056e13e5d5
14:95566089 DICER1 ACACACACACACACACACAC>A	14	95566089	95566108	ACACACACACACACACACAC	A	DICER1	c.4206+9_4206+27del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566090_95566108del	(Likely) benign	2 labs	0570e32b03
14:23897840 MYH7 C>T	14	23897840	23897840	C	T	MYH7	c.1447G>A	NM_000257.4	NP_000248.2:p.(Glu483Lys)	NC_000014.8:g.23897840C>T	(Likely) pathogenic	2 labs	0593229552
10:112579949 RBM20 A>G	10	112579949	112579949	A	G	RBM20	c.2655+15A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112579949A>G	(Likely) benign	4 labs	0583f66b7c
10:90984991 LIPA A>G	10	90984991	90984991	A	G	LIPA	c.539-6T>C	NM_001127605.3	NP_001121077.1:p.?	NC_000010.10:g.90984991A>G	(Likely) benign	2 labs	0587552f8b
17:41244006 BRCA1 AC>A	17	41244006	41244007	AC	A	BRCA1	c.3541del	NM_007294.4	NP_009225.1:p.(Val1181SerfsTer29)	NC_000017.10:g.41244007del	(Likely) pathogenic	2 labs	0597f707af
11:108196092 ATM CA>C	11	108196092	108196093	CA	C	ATM	c.6629del	NM_000051.4	NP_000042.3:p.(Gln2210ArgfsTer25)	NC_000011.9:g.108196093del	(Likely) pathogenic	2 labs	05985cadb0
20:10389403 MKKS C>T	20	10389403	10389403	C	T	MKKS	c.1034G>A	NM_018848.3	NP_061336.1:p.(Gly345Glu)	NC_000020.10:g.10389403C>T	(Likely) pathogenic	2 labs	059d29bb32
22:31329517 MORC2 G>C	22	31329517	31329517	G	C	MORC2	c.2140-10C>G	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31329517G>C	(Likely) benign	2 labs	059fd09505
11:18318379 HPS5 C>T	11	18318379	18318379	C	T	HPS5	c.1476G>A	NM_181507.2	NP_852608.1:p.(Leu492=)	NC_000011.9:g.18318379C>T	(Likely) benign	2 labs	05a58b8df6
10:69934277 MYPN C>T	10	69934277	69934277	C	T	MYPN	c.2428C>T	NM_032578.4	NP_115967.2:p.(Arg810Cys)	NC_000010.10:g.69934277C>T	VUS	2 labs	05a7c7bfd1
10:43613867 RET C>T	10	43613867	43613867	C	T	RET	c.2331C>T	NM_020975.6	NP_066124.1:p.(Asn777=)	NC_000010.10:g.43613867C>T	(Likely) benign	4 labs	05ae747849
1:35250720 GJB3 C>T	1	35250720	35250720	C	T	GJB3	c.357C>T	NM_024009.3	NP_076872.1:p.(Asn119=)	NC_000001.10:g.35250720C>T	(Likely) benign	2 labs	05ac76c566
11:47256343 DDB2 G>A	11	47256343	47256343	G	A	DDB2	c.738G>A	NM_000107.3	NP_000098.1:p.(Thr246=)	NC_000011.9:g.47256343G>A	(Likely) benign	2 labs	05ad1ef5c5
18:28654748 DSC2 C>A	18	28654748	28654748	C	A	DSC2	c.1789G>T	NM_004949.5	NP_004940.1:p.(Val597Phe)	NC_000018.9:g.28654748C>A	(Likely) benign	2 labs	05b5360a52
9:26984494 IFT74 C>T	9	26984494	26984494	C	T	IFT74	c.405-3C>T	NM_001349928.2	NP_001336857.1:p.?	NC_000009.11:g.26984494C>T	(Likely) benign	2 labs	05ba2cb0b4
16:88499292 ZNF469 C>A	16	88499292	88499292	C	A	ZNF469	c.5414C>A	NM_001367624.2	NP_001354553.1:p.(Pro1805His)	NC_000016.9:g.88499292C>A	(Likely) benign	2 labs	05c9ff5d2c
16:23619181 PALB2 T>C	16	23619181	23619181	T	C	PALB2	c.3350+4A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23619181T>C	(Likely) pathogenic	3 labs	05cf11a26a
11:47371449 MYBPC3 C>T	11	47371449	47371449	C	T	MYBPC3	c.530G>A	NM_000256.3	NP_000247.2:p.(Arg177His)	NC_000011.9:g.47371449C>T	(Likely) benign	3 labs	05d69446e0
X:135292085 FHL1 C>T	X	135292085	135292085	C	T	FHL1	c.944C>T	NM_001159702.3	NP_001153174.1:p.(Thr315Ile)	NC_000023.10:g.135292085C>T	VUS	2 labs	05ef67d247
X:100662901 GLA G>A	X	100662901	100662901	G	A	GLA	c.-10C>T	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100662901G>A	(Likely) benign	4 labs	05f1d8d48f
1:168074130 GPR161 C>T	1	168074130	168074130	C	T	GPR161	c.19G>A	NM_001267609.1	NP_001254538.1:p.(Val7Ile)	NC_000001.10:g.168074130C>T	(Likely) benign	2 labs	05f4e9b6d8
4:114274518 ANK2 C>T	4	114274518	114274518	C	T	ANK2	c.4744C>T	NM_001148.6	NP_001139.3:p.(Arg1582Trp)	NC_000004.11:g.114274518C>T	(Likely) benign	2 labs	05f8d15fc6
1:237038008 MTR T>TA	1	237038008	237038022	T	TA	MTR	c.2474-4dup	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038022dup	(Likely) benign	2 labs	06112bc27d
2:27677277 IFT172 G>A	2	27677277	27677277	G	A	IFT172	c.3474C>T	NM_015662.3	NP_056477.1:p.(Phe1158=)	NC_000002.11:g.27677277G>A	(Likely) benign	2 labs	0616890e2a
9:27548276 C9orf72 G>A	9	27548276	27548276	G	A	C9orf72	c.1404C>T	NM_001256054.3	NP_001242983.1:p.(Phe468=)	NC_000009.11:g.27548276G>A	(Likely) benign	2 labs	06396bba0f
2:179599471 TTN G>A	2	179599471	179599471	G	A	TTN	c.15180C>T	NM_001267550.2	NP_001254479.2:p.(Val5060=)	NC_000002.11:g.179599471G>A	(Likely) benign	2 labs	064daf1176
17:78064175 CCDC40 A>G	17	78064175	78064175	A	G	CCDC40	c.3070A>G	NM_001243342.2	NP_001230271.1:p.(Arg1024Gly)	NC_000017.10:g.78064175A>G	(Likely) benign	2 labs	0650ae446b
3:121516059 IQCB1 A>C	3	121516059	121516059	A	C	IQCB1	c.782T>G	NM_001023570.4	NP_001018864.2:p.(Leu261Arg)	NC_000003.11:g.121516059A>C	(Likely) benign	2 labs	065a801b23
3:46902318 MYL3 GC>G	3	46902318	46902320	GC	G	MYL3	c.158-4del	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902320del	(Likely) benign	2 labs	0661e6bd5c
1:12066657 MFN2 G>A	1	12066657	12066657	G	A	MFN2	c.1779G>A	NM_014874.4	NP_055689.1:p.(Ser593=)	NC_000001.10:g.12066657G>A	(Likely) benign	2 labs	066a3d6f4c
15:23890816 MAGEL2 C>T	15	23890816	23890816	C	T	MAGEL2	c.2074G>A	NM_019066.5	NP_061939.3:p.(Val692Ile)	NC_000015.9:g.23890816C>T	(Likely) benign	3 labs	06767d1dd9
8:24813391 NEFL G>C	8	24813391	24813391	G	C	NEFL	c.639C>G	NM_006158.5	NP_006149.2:p.(Ile213Met)	NC_000008.10:g.24813391G>C	(Likely) benign	3 labs	0678bd4859
9:137622315 COL5A1 C>T	9	137622315	137622315	C	T	COL5A1	c.1158C>T	NM_000093.5	NP_000084.3:p.(Ser386=)	NC_000009.11:g.137622315C>T	(Likely) benign	2 labs	06824b35dc
2:179411521 TTN C>T	2	179411521	179411521	C	T	TTN	c.94634G>A	NM_001267550.2	NP_001254479.2:p.(Arg31545His)	NC_000002.11:g.179411521C>T	VUS	2 labs	06922cf5c1
12:8757522 AICDA C>CA	12	8757522	8757535	C	CA	AICDA	c.428-5dup	NM_020661.4	NP_065712.1:p.?	NC_000012.11:g.8757535dup	(Likely) benign	3 labs	06870e6751
10:88466432 LDB3 C>A	10	88466432	88466432	C	A	LDB3	c.1041C>A	NM_007078.3	NP_009009.1:p.(Ser347=)	NC_000010.10:g.88466432C>A	(Likely) benign	3 labs	069e4c232c
9:21971156 CDKN2A C>G	9	21971156	21971156	C	G	CDKN2A	c.202G>C	NM_000077.5	NP_000068.1:p.(Ala68Pro)	NC_000009.11:g.21971156C>G	(Likely) pathogenic	2 labs	069f253a26
22:37906308 CARD10 G>GCTCCTT	22	37906308	37906343	G	GCTCCTT	CARD10	c.814_819dup	NM_014550.4	NP_055365.2:p.(Lys272_Glu273dup)	NC_000022.10:g.37906338_37906343dup	(Likely) benign	2 labs	06a209f003
16:3639676 SLX4 C>T	16	3639676	3639676	C	T	SLX4	c.3963G>A	NM_032444.4	NP_115820.2:p.(Pro1321=)	NC_000016.9:g.3639676C>T	(Likely) benign	2 labs	06abe8bcd2
3:52486180 TNNC1 C>A	3	52486180	52486180	C	A	TNNC1	c.144G>T	NM_003280.3	NP_003271.1:p.(Leu48=)	NC_000003.11:g.52486180C>A	(Likely) benign	2 labs	06ae82e77b
17:48271548 COL1A1 G>T	17	48271548	48271548	G	T	COL1A1	c.1615-4C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271548G>T	(Likely) benign	3 labs	06b2aa0681
21:44483201 CBS C>T	21	44483201	44483201	C	T	CBS	c.829-13G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44483201C>T	(Likely) benign	2 labs	06b7e5bc5f
14:51057784 ATL1 T>C	14	51057784	51057784	T	C	ATL1	c.408T>C	NM_001127713.1	NP_001121185.1:p.(Asp136=)	NC_000014.8:g.51057784T>C	(Likely) benign	2 labs	06b8c569c2
12:22063251 ABCC9 CA>C	12	22063251	22063265	CA	C	ABCC9	c.1165-6del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063265del	(Likely) benign	5 labs	06cabad09e
7:140477894 BRAF T>C	7	140477894	140477894	T	C	BRAF	c.1433-19A>G	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140477894T>C	(Likely) benign	2 labs	06dc76dfee
3:38591857 SCN5A G>A	3	38591857	38591857	G	A	SCN5A	c.6006C>T	NM_198056.3	NP_932173.1:p.(Ala2002=)	NC_000003.11:g.38591857G>A	(Likely) benign	3 labs	06e1834b52
3:78663949 ROBO1 G>A	3	78663949	78663949	G	A	ROBO1	c.4149C>T	NM_133631.4	NP_598334.2:p.(Gly1383=)	NC_000003.11:g.78663949G>A	(Likely) benign	2 labs	06e3acef6d
X:20227436 RPS6KA3 T>C	X	20227436	20227436	T	C	RPS6KA3	c.213A>G	NM_004586.3	NP_004577.1:p.(Leu71=)	NC_000023.10:g.20227436T>C	(Likely) benign	2 labs	06e5d07493
8:134260136 NDRG1 C>T	8	134260136	134260136	C	T	NDRG1	c.789G>A	NM_001135242.2	NP_001128714.1:p.(Ser263=)	NC_000008.10:g.134260136C>T	(Likely) benign	2 labs	06ea130251
7:92733975 SAMD9 G>A	7	92733975	92733975	G	A	SAMD9	c.1436C>T	NM_017654.4	NP_060124.2:p.(Thr479Met)	NC_000007.13:g.92733975G>A	(Likely) benign	2 labs	06f13578c2
6:72962529 RIMS1 C>A	6	72962529	72962529	C	A	RIMS1	c.2764C>A	NM_014989.6	NP_055804.2:p.(Pro922Thr)	NC_000006.11:g.72962529C>A	VUS	2 labs	07090eebd1
3:123357037 MYLK A>G	3	123357037	123357037	A	G	MYLK	c.4842T>C	NM_053025.4	NP_444253.3:p.(Asn1614=)	NC_000003.11:g.123357037A>G	(Likely) benign	3 labs	0713491553
20:57415602 GNAS G>A	20	57415602	57415602	G	A	GNAS	c.441G>A	NM_016592.5	NP_057676.1:p.(Pro147=)	NC_000020.10:g.57415602G>A	(Likely) benign	2 labs	0719fc597b
4:1795553 FGFR3 C>T	4	1795553	1795553	C	T	FGFR3	c.-102-7C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795553C>T	(Likely) benign	2 labs	07228ba0c0
7:127894621 LEP C>T	7	127894621	127894621	C	T	LEP	c.309C>T	NM_000230.3	NP_000221.1:p.(Asn103=)	NC_000007.13:g.127894621C>T	(Likely) benign	2 labs	0724a005e8
2:27677214 IFT172 A>G	2	27677214	27677214	A	G	IFT172	c.3530+7T>C	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27677214A>G	(Likely) benign	4 labs	072ca6736a
9:98220550 PTCH1 A>G	9	98220550	98220550	A	G	PTCH1	c.2913T>C	NM_000264.5	NP_000255.2:p.(Tyr971=)	NC_000009.11:g.98220550A>G	(Likely) benign	2 labs	07341f6075
2:63631343 WDPCP A>C	2	63631343	63631343	A	C	WDPCP	c.1275T>G	NM_015910.7	NP_056994.3:p.(Thr425=)	NC_000002.11:g.63631343A>C	(Likely) benign	2 labs	073be40890
8:10480225 RP1L1 G>C	8	10480225	10480225	G	C	RP1L1	c.487C>G	NM_178857.6	NP_849188.4:p.(Arg163Gly)	NC_000008.10:g.10480225G>C	(Likely) benign	2 labs	073c2bcf20
3:30686270 TGFBR2 C>T	3	30686270	30686270	C	T	TGFBR2	c.201C>T	NM_001024847.2	NP_001020018.1:p.(Asn67=)	NC_000003.11:g.30686270C>T	(Likely) benign	2 labs	074f2622aa
14:64460536 SYNE2 A>AT	14	64460536	64460550	A	AT	SYNE2	c.2647-3dup	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64460550dup	(Likely) benign	3 labs	074aea7f4e
14:23857393 MYH6 G>A	14	23857393	23857393	G	A	MYH6	c.4330C>T	NM_002471.4	NP_002462.2:p.(Leu1444=)	NC_000014.8:g.23857393G>A	(Likely) benign	2 labs	07596e60c8
9:2718901 KCNV2 C>G	9	2718901	2718901	C	G	KCNV2	c.1162C>G	NM_133497.4	NP_598004.1:p.(Leu388Val)	NC_000009.11:g.2718901C>G	VUS	2 labs	076d707d5f
9:135777102 TSC1 T>C	9	135777102	135777102	T	C	TSC1	c.2392-16A>G	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135777102T>C	(Likely) benign	2 labs	0773ace307
2:179463991 TTN C>T	2	179463991	179463991	C	T	TTN	c.56529G>A	NM_001267550.2	NP_001254479.2:p.(Thr18843=)	NC_000002.11:g.179463991C>T	(Likely) benign	5 labs	077eda3f9f
8:42294592 SLC20A2 C>T	8	42294592	42294592	C	T	SLC20A2	c.1438G>A	NM_001257180.2	NP_001244109.1:p.(Ala480Thr)	NC_000008.10:g.42294592C>T	(Likely) benign	2 labs	0783f5a49e
7:128484218 FLNC C>T	7	128484218	128484218	C	T	FLNC	c.3090C>T	NM_001458.5	NP_001449.3:p.(Pro1030=)	NC_000007.13:g.128484218C>T	(Likely) benign	2 labs	078999215b
11:17414581 ABCC8 C>T	11	17414581	17414581	C	T	ABCC8	c.4769G>A	NM_001351295.2	NP_001338224.1:p.(Arg1590Gln)	NC_000011.9:g.17414581C>T	(Likely) benign	2 labs	07955591ad
22:29090053 CHEK2 C>T	22	29090053	29090053	C	T	CHEK2	c.1428G>A	NM_007194.4	NP_009125.1:p.(Thr476=)	NC_000022.10:g.29090053C>T	(Likely) benign	2 labs	079e54cbcf
4:39271588 WDR19 T>G	4	39271588	39271588	T	G	WDR19	c.3359-8T>G	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39271588T>G	(Likely) benign	3 labs	079f470011
4:106317429 PPA2 C>G	4	106317429	106317429	C	G	PPA2	c.846G>C	NM_176869.3	NP_789845.1:p.(Lys282Asn)	NC_000004.11:g.106317429C>G	(Likely) benign	2 labs	07a099b7ab
12:110032871 MVK C>T	12	110032871	110032871	C	T	MVK	c.924C>T	NM_001114185.3	NP_001107657.1:p.(Leu308=)	NC_000012.11:g.110032871C>T	(Likely) benign	3 labs	07a8bce702
15:89876954 POLG C>T	15	89876954	89876954	C	T	POLG	c.32G>A	NM_002693.3	NP_002684.1:p.(Gly11Asp)	NC_000015.9:g.89876954C>T	VUS	2 labs	07ae042c8f
16:74750237 FA2H A>G	16	74750237	74750237	A	G	FA2H	c.1039+8T>C	NM_024306.5	NP_077282.3:p.?	NC_000016.9:g.74750237A>G	(Likely) benign	3 labs	07aea0f6b8
12:106763456 POLR3B C>T	12	106763456	106763456	C	T	POLR3B	c.399C>T	NM_018082.6	NP_060552.4:p.(Ile133=)	NC_000012.11:g.106763456C>T	(Likely) benign	2 labs	07b5836556
6:152453291 SYNE1 G>A	6	152453291	152453291	G	A	SYNE1	c.26060C>T	NM_182961.4	NP_892006.3:p.(Thr8687Ile)	NC_000006.11:g.152453291G>A	(Likely) benign	2 labs	07b5dd9297
7:128498229 FLNC G>A	7	128498229	128498229	G	A	FLNC	c.7948G>A	NM_001458.5	NP_001449.3:p.(Val2650Met)	NC_000007.13:g.128498229G>A	VUS	2 labs	07b6f35347
2:179486108 TTN A>G	2	179486108	179486108	A	G	TTN	c.45350-13T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179486108A>G	(Likely) benign	5 labs	07b78c84cd
8:100791158 VPS13B G>A	8	100791158	100791158	G	A	VPS13B	c.7753G>A	NM_017890.5	NP_060360.3:p.(Glu2585Lys)	NC_000008.10:g.100791158G>A	(Likely) benign	3 labs	07b7b64a9e
2:27677498 IFT172 C>A	2	27677498	27677498	C	A	IFT172	c.3401G>T	NM_015662.3	NP_056477.1:p.(Arg1134Leu)	NC_000002.11:g.27677498C>A	(Likely) benign	3 labs	07b7c6b818
1:91406110 ZNF644 T>C	1	91406110	91406110	T	C	ZNF644	c.801A>G	NM_201269.3	NP_958357.1:p.(Gln267=)	NC_000001.10:g.91406110T>C	(Likely) benign	2 labs	07d8c65ac6
12:32949083 PKP2 C>T	12	32949083	32949083	C	T	PKP2	c.2449G>A	NM_004572.4	NP_004563.2:p.(Gly817Arg)	NC_000012.11:g.32949083C>T	VUS	2 labs	07ddf8e3ea
6:152765726 SYNE1 G>GA	6	152765726	152765737	G	GA	SYNE1	c.3670-14dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152765737dup	(Likely) benign	2 labs	07e215b0da
1:216172296 USH2A G>A	1	216172296	216172296	G	A	USH2A	c.6590C>T	NM_206933.4	NP_996816.3:p.(Thr2197Ile)	NC_000001.10:g.216172296G>A	VUS	3 labs	07eac56152
11:88911172 TYR T>C	11	88911172	88911172	T	C	TYR	c.51T>C	NM_000372.5	NP_000363.1:p.(Ala17=)	NC_000011.9:g.88911172T>C	(Likely) benign	2 labs	07f024c3b6
1:155657936 YY1AP1 C>T	1	155657936	155657936	C	T	YY1AP1	c.320G>A	NM_001198903.1	NP_001185832.1:p.(Gly107Glu)	NC_000001.10:g.155657936C>T	(Likely) benign	2 labs	07f392d273
X:27765399 DCAF8L2 AGAGGAGGAGGAGGAG>A	X	27765399	27765446	AGAGGAGGAGGAGGAG	A	DCAF8L2	c.420_434del	NM_001353448.2	NP_001340377.1:p.(Glu143_Glu147del)	NC_000023.10:g.27765432_27765446del	(Likely) benign	2 labs	07f6307bfa
8:144998301 PLEC C>T	8	144998301	144998301	C	T	PLEC	c.6207G>A	NM_201380.4	NP_958782.1:p.(Ala2069=)	NC_000008.10:g.144998301C>T	(Likely) benign	2 labs	07fc7d28b8
19:15298707 NOTCH3 A>C	19	15298707	15298707	A	C	NOTCH3	c.1591T>G	NM_000435.3	NP_000426.2:p.(Cys531Gly)	NC_000019.9:g.15298707A>C	(Likely) pathogenic	2 labs	07fe4dcc18
15:48787360 FBN1 G>A	15	48787360	48787360	G	A	FBN1	c.2637C>T	NM_000138.5	NP_000129.3:p.(Leu879=)	NC_000015.9:g.48787360G>A	(Likely) benign	2 labs	080196d310
11:66333598 CTSF C>T	11	66333598	66333598	C	T	CTSF	c.762G>A	NM_003793.4	NP_003784.2:p.(Arg254=)	NC_000011.9:g.66333598C>T	(Likely) benign	2 labs	08043a6c0a
2:179599702 TTN G>A	2	179599702	179599702	G	A	TTN	c.14949C>T	NM_001267550.2	NP_001254479.2:p.(Phe4983=)	NC_000002.11:g.179599702G>A	(Likely) benign	2 labs	0806bf5c65
19:11213461 LDLR TCG>T	19	11213461	11213463	TCG	T	LDLR	c.313_313+1del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213462_11213463del	(Likely) pathogenic	2 labs	080518a5c2
16:2133679 TSC2 C>G	16	2133679	2133679	C	G	TSC2	c.3884-17C>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2133679C>G	(Likely) benign	2 labs	081ad7f4ad
X:130417174 IGSF1 C>T	X	130417174	130417174	C	T	IGSF1	c.732G>A	NM_001170961.2	NP_001164432.1:p.(Leu244=)	NC_000023.10:g.130417174C>T	(Likely) benign	2 labs	081af40797
1:160322763 NCSTN A>G	1	160322763	160322763	A	G	NCSTN	c.1083A>G	NM_015331.3	NP_056146.1:p.(Ser361=)	NC_000001.10:g.160322763A>G	(Likely) benign	2 labs	08232f849a
16:89345967 ANKRD11 C>CG	16	89345967	89345973	C	CG	ANKRD11	c.6982dup	NM_001256182.2	NP_001243111.1:p.(Arg2328ProfsTer204)	NC_000016.9:g.89345973dup	(Likely) pathogenic	2 labs	08384010c2
9:98011497 FANCC G>A	9	98011497	98011497	G	A	FANCC	c.77C>T	NM_000136.3	NP_000127.2:p.(Ser26Phe)	NC_000009.11:g.98011497G>A	(Likely) benign	3 labs	083f6b5d12
18:10761048 PIEZO2 T>C	18	10761048	10761048	T	C	PIEZO2	c.3236A>G	NM_022068.4	NP_071351.2:p.(Tyr1079Cys)	NC_000018.9:g.10761048T>C	VUS	2 labs	084b183ef3
1:2235513 SKI G>A	1	2235513	2235513	G	A	SKI	c.1446G>A	NM_003036.4	NP_003027.1:p.(Ala482=)	NC_000001.10:g.2235513G>A	(Likely) benign	2 labs	084beb5d96
19:3119365 GNA11 G>C	19	3119365	3119365	G	C	GNA11	c.889+8G>C	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3119365G>C	(Likely) benign	3 labs	08577a759d
22:51154141 SHANK3 G>A	22	51154141	51154141	G	A	SHANK3	c.2535G>A	NM_001372044.2	NP_001358973.1:p.(Pro845=)	NC_000022.10:g.51154141G>A	(Likely) benign	2 labs	085b76ee0b
5:89954009 ADGRV1 G>A	5	89954009	89954009	G	A	ADGRV1	c.4666G>A	NM_032119.4	NP_115495.3:p.(Glu1556Lys)	NC_000005.9:g.89954009G>A	VUS	3 labs	085fd18b76
16:49672376 ZNF423 G>A	16	49672376	49672376	G	A	ZNF423	c.507C>T	NM_001271620.2	NP_001258549.1:p.(Arg169=)	NC_000016.9:g.49672376G>A	(Likely) benign	3 labs	086288d839
6:32046862 TNXB G>A	6	32046862	32046862	G	A	TNXB	c.4323C>T	NM_019105.8	NP_061978.6:p.(Tyr1441=)	NC_000006.11:g.32046862G>A	(Likely) benign	2 labs	0865a72ac6
5:180046274 FLT4 C>G	5	180046274	180046274	C	G	FLT4	c.2740G>C	NM_182925.5	NP_891555.2:p.(Gly914Arg)	NC_000005.9:g.180046274C>G	(Likely) pathogenic	2 labs	0868f59f64
6:75893706 COL12A1 A>G	6	75893706	75893706	A	G	COL12A1	c.1152T>C	NM_004370.6	NP_004361.3:p.(Pro384=)	NC_000006.11:g.75893706A>G	(Likely) benign	2 labs	0870cda502
2:179473220 TTN C>T	2	179473220	179473220	C	T	TTN	c.52406-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179473220C>T	(Likely) benign	2 labs	08736c5f0c
1:197403836 CRB1 G>A	1	197403836	197403836	G	A	CRB1	c.2843G>A	NM_201253.3	NP_957705.1:p.(Cys948Tyr)	NC_000001.10:g.197403836G>A	(Likely) pathogenic	4 labs	08868ac4f8
X:119589224 LAMP2 C>T	X	119589224	119589224	C	T	LAMP2	c.385G>A	NM_002294.3	NP_002285.1:p.(Ala129Thr)	NC_000023.10:g.119589224C>T	(Likely) benign	3 labs	087ca56460
6:152443744 SYNE1 G>T	6	152443744	152443744	G	T	SYNE1	c.26221C>A	NM_182961.4	NP_892006.3:p.(Leu8741Met)	NC_000006.11:g.152443744G>T	(Likely) benign	3 labs	0881d0e5c0
17:1563804 PRPF8 C>T	17	1563804	1563804	C	T	PRPF8	c.4707G>A	NM_006445.4	NP_006436.3:p.(Leu1569=)	NC_000017.10:g.1563804C>T	(Likely) benign	2 labs	0884b21e94
17:41258568 BRCA1 A>C	17	41258568	41258568	A	C	BRCA1	c.135-18T>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258568A>C	VUS	2 labs	089ecaa0cd
10:88466432 LDB3 C>T	10	88466432	88466432	C	T	LDB3	c.1041C>T	NM_007078.3	NP_009009.1:p.(Ser347=)	NC_000010.10:g.88466432C>T	(Likely) benign	2 labs	08ac99fc2e
X:153599549 FLNA T>TCGA	X	153599549	153599554	T	TCGA	FLNA	c.62_64dup	NM_001110556.2	NP_001104026.1:p.(Val21dup)	NC_000023.10:g.153599552_153599554dup	(Likely) benign	3 labs	08b4c05690
3:167506967 SERPINI1 A>G	3	167506967	167506967	A	G	SERPINI1	c.51A>G	NM_005025.5	NP_005016.1:p.(Thr17=)	NC_000003.11:g.167506967A>G	(Likely) benign	2 labs	08b949465d
12:40681142 LRRK2 C>CT	12	40681142	40681144	C	CT	LRRK2	c.2501-9dup	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40681144dup	(Likely) benign	3 labs	08bc265e69
16:2127724 TSC2 G>C	16	2127724	2127724	G	C	TSC2	c.2963G>C	NM_000548.5	NP_000539.2:p.(Arg988Pro)	NC_000016.9:g.2127724G>C	(Likely) benign	3 labs	08c38b8801
9:133901856 LAMC3 C>T	9	133901856	133901856	C	T	LAMC3	c.558C>T	NM_006059.4	NP_006050.3:p.(Arg186=)	NC_000009.11:g.133901856C>T	(Likely) benign	2 labs	08c8d453a7
11:68192630 LRP5 C>T	11	68192630	68192630	C	T	LRP5	c.3297C>T	NM_002335.4	NP_002326.2:p.(Asp1099=)	NC_000011.9:g.68192630C>T	(Likely) benign	3 labs	08c9c8f336
7:128486832 FLNC C>T	7	128486832	128486832	C	T	FLNC	c.4161C>T	NM_001458.5	NP_001449.3:p.(Ile1387=)	NC_000007.13:g.128486832C>T	(Likely) benign	2 labs	08caa21445
6:88240570 RARS2 C>T	6	88240570	88240570	C	T	RARS2	c.703G>A	NM_020320.5	NP_064716.2:p.(Val235Met)	NC_000006.11:g.88240570C>T	(Likely) benign	2 labs	08d7143f0f
11:3069136 CARS1 A>AC	11	3069136	3069140	A	AC	CARS1	c.120dup	NM_001194997.2	NP_001181926.1:p.(Tyr41ValfsTer20)	NC_000011.9:g.3069140dup	VUS	2 labs	08d7db7883
2:207014657 NDUFS1 TA>T	2	207014657	207014682	TA	T	NDUFS1	c.154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014682del	(Likely) benign	3 labs	08da46a1cb
6:32052343 TNXB CTT>C	6	32052343	32052346	CTT	C	TNXB	c.3290_3291del	NM_019105.8	NP_061978.6:p.(Lys1097ArgfsTer48)	NC_000006.11:g.32052345_32052346del	(Likely) pathogenic	4 labs	08dd4b5ab1
11:68673601 IGHMBP2 C>G	11	68673601	68673601	C	G	IGHMBP2	c.151C>G	NM_002180.3	NP_002171.2:p.(Gln51Glu)	NC_000011.9:g.68673601C>G	(Likely) benign	2 labs	08e1ef241b
15:90190048 KIF7 A>G	15	90190048	90190048	A	G	KIF7	c.1788+13T>C	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90190048A>G	(Likely) benign	3 labs	08e82ed21e
1:156830948 NTRK1 C>T	1	156830948	156830948	C	T	NTRK1	c.212+10C>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156830948C>T	(Likely) benign	2 labs	08eaa6ccef
1:215821091 USH2A C>T	1	215821091	215821091	C	T	USH2A	c.14583-19G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215821091C>T	(Likely) benign	2 labs	08eb5ff716
11:47371421 MYBPC3 C>A	11	47371421	47371421	C	A	MYBPC3	c.558G>T	NM_000256.3	NP_000247.2:p.(Pro186=)	NC_000011.9:g.47371421C>A	(Likely) benign	3 labs	08f8217b36
7:6036994 PMS2 C>T	7	6036994	6036994	C	T	PMS2	c.766G>A	NM_000535.7	NP_000526.2:p.(Gly256Ser)	NC_000007.13:g.6036994C>T	VUS	2 labs	09006cb2a3
11:108214035 ATM T>C	11	108214035	108214035	T	C	ATM	c.8355T>C	NM_000051.4	NP_000042.3:p.(Asp2785=)	NC_000011.9:g.108214035T>C	(Likely) benign	3 labs	0900b44581
15:28326839 OCA2 C>T	15	28326839	28326839	C	T	OCA2	c.182G>A	NM_000275.3	NP_000266.2:p.(Trp61Ter)	NC_000015.9:g.28326839C>T	(Likely) pathogenic	2 labs	09091429ab
7:112102355 IFRD1 T>G	7	112102355	112102355	T	G	IFRD1	c.828T>G	NM_001007245.3	NP_001007246.1:p.(Ser276=)	NC_000007.13:g.112102355T>G	(Likely) benign	2 labs	0930c87301
18:29125854 DSG2 A>G	18	29125854	29125854	A	G	DSG2	c.2505A>G	NM_001943.5	NP_001934.2:p.(Thr835=)	NC_000018.9:g.29125854A>G	(Likely) benign	5 labs	0930cfba89
12:32996177 PKP2 A>G	12	32996177	32996177	A	G	PKP2	c.1449T>C	NM_004572.4	NP_004563.2:p.(Thr483=)	NC_000012.11:g.32996177A>G	(Likely) benign	2 labs	093b9b30dc
15:91354640 BLM T>G	15	91354640	91354640	T	G	BLM	c.4076+4T>G	NM_000057.4	NP_000048.1:p.?	NC_000015.9:g.91354640T>G	(Likely) benign	3 labs	093fcedb4c
19:36211008 KMT2B A>G	19	36211008	36211008	A	G	KMT2B	c.759A>G	NM_014727.3	NP_055542.1:p.(Pro253=)	NC_000019.9:g.36211008A>G	(Likely) benign	2 labs	0944a8cd5f
22:36715610 MYH9 G>A	22	36715610	36715610	G	A	MYH9	c.1083C>T	NM_002473.6	NP_002464.1:p.(Asp361=)	NC_000022.10:g.36715610G>A	(Likely) benign	3 labs	09459a40ba
7:30673401 GARS1 A>G	7	30673401	30673401	A	G	GARS1	c.2145A>G	NM_002047.4	NP_002038.2:p.(Thr715=)	NC_000007.13:g.30673401A>G	(Likely) benign	2 labs	09489a0eca
1:40782848 COL9A2 G>C	1	40782848	40782848	G	C	COL9A2	c.22C>G	NM_001852.4	NP_001843.1:p.(Pro8Ala)	NC_000001.10:g.40782848G>C	VUS	2 labs	094af27e90
5:73091228 ARHGEF28 C>T	5	73091228	73091228	C	T	ARHGEF28	c.1024+12C>T	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73091228C>T	(Likely) benign	2 labs	094f52e2cb
11:534285 HRAS C>A	11	534285	534285	C	A	HRAS	c.38G>T	NM_176795.5	NP_789765.1:p.(Gly13Val)	NC_000011.9:g.534285C>A	(Likely) pathogenic	3 labs	0954c39947
21:44485715 CBS C>T	21	44485715	44485715	C	T	CBS	c.531+11G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44485715C>T	(Likely) benign	2 labs	0956d98c49
2:220149542 DNAJB2 G>C	2	220149542	220149542	G	C	DNAJB2	c.808G>C	NM_006736.6	NP_006727.2:p.(Gly270Arg)	NC_000002.11:g.220149542G>C	(Likely) benign	2 labs	0959a77409
2:179430918 TTN T>C	2	179430918	179430918	T	C	TTN	c.79941A>G	NM_001267550.2	NP_001254479.2:p.(Gln26647=)	NC_000002.11:g.179430918T>C	(Likely) benign	3 labs	096a8c1c81
18:29126057 DSG2 C>T	18	29126057	29126057	C	T	DSG2	c.2708C>T	NM_001943.5	NP_001934.2:p.(Thr903Ile)	NC_000018.9:g.29126057C>T	(Likely) benign	4 labs	097076728a
16:81946299 PLCG2 G>A	16	81946299	81946299	G	A	PLCG2	c.2032G>A	NM_002661.5	NP_002652.2:p.(Asp678Asn)	NC_000016.9:g.81946299G>A	(Likely) benign	2 labs	0971ccaf2a
12:987490 WNK1 C>T	12	987490	987490	C	T	WNK1	c.3575C>T	NM_001184985.2	NP_001171914.1:p.(Ala1192Val)	NC_000012.11:g.987490C>T	(Likely) benign	2 labs	0984f6dc32
2:179659844 TTN G>A	2	179659844	179659844	G	A	TTN	c.1050C>T	NM_001267550.2	NP_001254479.2:p.(Tyr350=)	NC_000002.11:g.179659844G>A	(Likely) benign	5 labs	09856b8674
22:29090026 CHEK2 C>A	22	29090026	29090026	C	A	CHEK2	c.1455G>T	NM_007194.4	NP_009125.1:p.(Trp485Cys)	NC_000022.10:g.29090026C>A	VUS	2 labs	098586b621
2:179412385 TTN G>A	2	179412385	179412385	G	A	TTN	c.93968C>T	NM_001267550.2	NP_001254479.2:p.(Ala31323Val)	NC_000002.11:g.179412385G>A	VUS	3 labs	0989f8ed64
16:74750351 FA2H A>G	16	74750351	74750351	A	G	FA2H	c.933T>C	NM_024306.5	NP_077282.3:p.(Tyr311=)	NC_000016.9:g.74750351A>G	(Likely) benign	3 labs	099526a060
4:126411177 FAT4 C>A	4	126411177	126411177	C	A	FAT4	c.13206C>A	NM_001291303.3	NP_001278232.1:p.(Gly4402=)	NC_000004.11:g.126411177C>A	(Likely) benign	3 labs	0999029333
7:94039813 COL1A2 G>A	7	94039813	94039813	G	A	COL1A2	c.1171G>A	NM_000089.4	NP_000080.2:p.(Gly391Ser)	NC_000007.13:g.94039813G>A	(Likely) pathogenic	2 labs	099d7ce980
1:201334762 TNNT2 G>C	1	201334762	201334762	G	C	TNNT2	c.240C>G	NM_001276347.2	NP_001263276.1:p.(Pro80=)	NC_000001.10:g.201334762G>C	(Likely) benign	2 labs	09a7f5f896
19:49669486 TRPM4 C>G	19	49669486	49669486	C	G	TRPM4	c.267+14C>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49669486C>G	(Likely) benign	2 labs	09aaf886b7
14:20940626 PNP C>T	14	20940626	20940626	C	T	PNP	c.171C>T	NM_000270.4	NP_000261.2:p.(Pro57=)	NC_000014.8:g.20940626C>T	(Likely) benign	2 labs	09bb1e1074
16:1574615 IFT140 C>T	16	1574615	1574615	C	T	IFT140	c.3079G>A	NM_014714.4	NP_055529.2:p.(Gly1027Arg)	NC_000016.9:g.1574615C>T	(Likely) benign	3 labs	09ba6e1838
9:135139826 SETX T>C	9	135139826	135139826	T	C	SETX	c.7834A>G	NM_015046.7	NP_055861.3:p.(Ser2612Gly)	NC_000009.11:g.135139826T>C	(Likely) benign	4 labs	09bad7e7b0
14:23885196 MYH7 C>T	14	23885196	23885196	C	T	MYH7	c.4953+17G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885196C>T	(Likely) benign	4 labs	09bf36a8c2
6:112440501 LAMA4 C>T	6	112440501	112440501	C	T	LAMA4	c.4658G>A	NM_002290.5	NP_002281.3:p.(Arg1553Gln)	NC_000006.11:g.112440501C>T	VUS	2 labs	09c27521c2
2:179613376 TTN T>C	2	179613376	179613376	T	C	TTN	c.13751A>G	NM_133379.5	NP_596870.2:p.(Lys4584Arg)	NC_000002.11:g.179613376T>C	(Likely) benign	2 labs	09d0a6051f
4:25160732 SEPSECS T>TA	4	25160732	25160747	T	TA	SEPSECS	c.115-4dup	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25160747dup	(Likely) benign	2 labs	09d4eb887d
2:179444137 TTN A>G	2	179444137	179444137	A	G	TTN	c.67637-17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179444137A>G	(Likely) benign	3 labs	09edee4662
7:117306991 CFTR C>T	7	117306991	117306991	C	T	CFTR	c.4272C>T	NM_000492.4	NP_000483.3:p.(Tyr1424=)	NC_000007.13:g.117306991C>T	(Likely) benign	4 labs	09ee787bc6
17:39923763 JUP G>A	17	39923763	39923763	G	A	JUP	c.777C>T	NM_002230.4	NP_002221.1:p.(Gly259=)	NC_000017.10:g.39923763G>A	(Likely) benign	3 labs	09ef796b4e
11:2187855 TH G>C	11	2187855	2187855	G	C	TH	c.1070+8C>G	NM_199292.3	NP_954986.2:p.?	NC_000011.9:g.2187855G>C	(Likely) benign	3 labs	09ff3b2b56
19:45411891 APOE A>AG	19	45411891	45411893	A	AG	APOE	c.340dup	NM_000041.4	NP_000032.1:p.(Glu114GlyfsTer51)	NC_000019.9:g.45411893dup	VUS	2 labs	0a0494b9ea
3:100962651 IMPG2 G>T	3	100962651	100962651	G	T	IMPG2	c.2524C>A	NM_016247.4	NP_057331.2:p.(Leu842Met)	NC_000003.11:g.100962651G>T	VUS	3 labs	0a10eedd58
11:534197 HRAS C>T	11	534197	534197	C	T	HRAS	c.111+15G>A	NM_176795.5	NP_789765.1:p.?	NC_000011.9:g.534197C>T	(Likely) benign	3 labs	0a1bd3ce6e
9:135139846 SETX C>T	9	135139846	135139846	C	T	SETX	c.7814G>A	NM_015046.7	NP_055861.3:p.(Arg2605Gln)	NC_000009.11:g.135139846C>T	(Likely) benign	2 labs	0a20ac86b6
2:16082389 MYCN CGG>C	2	16082389	16082391	CGG	C	MYCN	c.204_205del	NM_001293228.2	NP_001280157.1:p.(Glu69AlafsTer15)	NC_000002.11:g.16082390_16082391del	(Likely) pathogenic	2 labs	0a2c3f3074
5:90002053 ADGRV1 A>G	5	90002053	90002053	A	G	ADGRV1	c.8572A>G	NM_032119.4	NP_115495.3:p.(Ile2858Val)	NC_000005.9:g.90002053A>G	(Likely) benign	3 labs	0a2cf53887
7:112096070 IFRD1 T>A	7	112096070	112096070	T	A	IFRD1	c.213T>A	NM_001007245.3	NP_001007246.1:p.(Leu71=)	NC_000007.13:g.112096070T>A	(Likely) benign	2 labs	0a2dce9198
6:7585796 DSP C>G	6	7585796	7585796	C	G	DSP	c.8301C>G	NM_004415.4	NP_004406.2:p.(Thr2767=)	NC_000006.11:g.7585796C>G	(Likely) benign	3 labs	0a321c5191
2:179429577 TTN A>C	2	179429577	179429577	A	C	TTN	c.73578T>G	NM_133378.4	NP_596869.4:p.(His24526Gln)	NC_000002.11:g.179429577A>C	VUS	2 labs	0a36b37d96
12:32735056 FGD4 A>T	12	32735056	32735056	A	T	FGD4	c.255A>T	NM_139241.3	NP_640334.2:p.(Ala85=)	NC_000012.11:g.32735056A>T	(Likely) benign	2 labs	0a453ede07
16:88798869 PIEZO1 C>T	16	88798869	88798869	C	T	PIEZO1	c.2865G>A	NM_001142864.4	NP_001136336.2:p.(Gln955=)	NC_000016.9:g.88798869C>T	(Likely) benign	2 labs	0a52c9e218
1:92944314 GFI1 C>CAGAGAGAGAGAGAG	1	92944314	92944351	C	CAGAGAGAGAGAGAG	GFI1	c.925-18_925-5dup	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944338_92944351dup	(Likely) benign	3 labs	0a59ae4519
12:88510905 CEP290 G>A	12	88510905	88510905	G	A	CEP290	c.1729C>T	NM_025114.4	NP_079390.3:p.(Leu577=)	NC_000012.11:g.88510905G>A	(Likely) benign	3 labs	0a5c04d9ea
10:123247644 FGFR2 A>C	10	123247644	123247644	A	C	FGFR2	c.1864-17T>G	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123247644A>C	(Likely) benign	3 labs	0a7f1d1647
18:29110986 DSG2 A>G	18	29110986	29110986	A	G	DSG2	c.1051A>G	NM_001943.5	NP_001934.2:p.(Ser351Gly)	NC_000018.9:g.29110986A>G	(Likely) benign	4 labs	0a8327e752
15:73624540 HCN4 G>A	15	73624540	73624540	G	A	HCN4	c.1303C>T	NM_005477.3	NP_005468.1:p.(Leu435=)	NC_000015.9:g.73624540G>A	(Likely) benign	3 labs	0a859677dc
1:5965823 NPHP4 G>A	1	5965823	5965823	G	A	NPHP4	c.1632C>T	NM_015102.5	NP_055917.1:p.(Ala544=)	NC_000001.10:g.5965823G>A	(Likely) benign	2 labs	0a85ff9eb6
2:179453918 TTN G>A	2	179453918	179453918	G	A	TTN	c.54830C>T	NM_133378.4	NP_596869.4:p.(Thr18277Met)	NC_000002.11:g.179453918G>A	VUS	2 labs	0a97dd0633
6:7572292 DSP C>T	6	7572292	7572292	C	T	DSP	c.2121C>T	NM_004415.4	NP_004406.2:p.(Asn707=)	NC_000006.11:g.7572292C>T	(Likely) benign	2 labs	0aa642f2ad
14:23887594 MYH7 C>T	14	23887594	23887594	C	T	MYH7	c.3994G>A	NM_000257.4	NP_000248.2:p.(Ala1332Thr)	NC_000014.8:g.23887594C>T	VUS	2 labs	0aaaaaa1a7
16:88494601 ZNF469 T>C	16	88494601	88494601	T	C	ZNF469	c.723T>C	NM_001367624.2	NP_001354553.1:p.(Asn241=)	NC_000016.9:g.88494601T>C	(Likely) benign	2 labs	0ab940f047
2:215657132 BARD1 C>A	2	215657132	215657132	C	A	BARD1	c.253G>T	NM_000465.4	NP_000456.2:p.(Val85Leu)	NC_000002.11:g.215657132C>A	(Likely) benign	3 labs	0abcc9060c
17:56448297 RNF43 C>T	17	56448297	56448297	C	T	RNF43	c.350G>A	NM_017763.6	NP_060233.3:p.(Arg117His)	NC_000017.10:g.56448297C>T	(Likely) benign	2 labs	0ac4756240
16:15851690 MYH11 C>T	16	15851690	15851690	C	T	MYH11	c.1590G>A	NM_001040113.2	NP_001035202.1:p.(Glu530=)	NC_000016.9:g.15851690C>T	(Likely) benign	2 labs	0acd98e328
3:148904439 CP C>T	3	148904439	148904439	C	T	CP	c.1945G>A	NM_000096.4	NP_000087.2:p.(Ala649Thr)	NC_000003.11:g.148904439C>T	(Likely) benign	2 labs	0ace076d4c
7:91712808 AKAP9 G>A	7	91712808	91712808	G	A	AKAP9	c.8485G>A	NM_005751.5	NP_005742.4:p.(Glu2829Lys)	NC_000007.13:g.91712808G>A	(Likely) benign	2 labs	0ace3a033f
16:16259497 ABCC6 G>T	16	16259497	16259497	G	T	ABCC6	c.3289C>A	NM_001171.6	NP_001162.5:p.(Leu1097Ile)	NC_000016.9:g.16259497G>T	(Likely) benign	2 labs	0ad108f409
21:46902703 COL18A1 G>A	21	46902703	46902703	G	A	COL18A1	c.2920-6G>A	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46902703G>A	(Likely) benign	2 labs	0ad23b4b49
4:6303196 WFS1 C>T	4	6303196	6303196	C	T	WFS1	c.1674C>T	NM_006005.3	NP_005996.2:p.(Arg558=)	NC_000004.11:g.6303196C>T	(Likely) benign	2 labs	0ad578d61a
1:78408296 NEXN A>G	1	78408296	78408296	A	G	NEXN	c.1810A>G	NM_144573.4	NP_653174.3:p.(Lys604Glu)	NC_000001.10:g.78408296A>G	VUS	2 labs	0ae93a52ea
2:145156551 ZEB2 G>A	2	145156551	145156551	G	A	ZEB2	c.2203C>T	NM_014795.4	NP_055610.1:p.(Pro735Ser)	NC_000002.11:g.145156551G>A	(Likely) benign	2 labs	0aebed5edd
12:88471554 CEP290 T>C	12	88471554	88471554	T	C	CEP290	c.5506A>G	NM_025114.4	NP_079390.3:p.(Ile1836Val)	NC_000012.11:g.88471554T>C	(Likely) benign	3 labs	0aedadfbeb
6:123594486 TRDN T>C	6	123594486	123594486	T	C	TRDN	c.1620A>G	NM_006073.4	NP_006064.2:p.(Ile540Met)	NC_000006.11:g.123594486T>C	(Likely) benign	3 labs	0af423477f
15:23890279 MAGEL2 C>A	15	23890279	23890279	C	A	MAGEL2	c.2611G>T	NM_019066.5	NP_061939.3:p.(Ala871Ser)	NC_000015.9:g.23890279C>A	(Likely) benign	2 labs	0b0c865f75
5:77473181 AP3B1 C>T	5	77473181	77473181	C	T	AP3B1	c.875G>A	NM_001271769.2	NP_001258698.1:p.(Arg292His)	NC_000005.9:g.77473181C>T	VUS	3 labs	0b0f4a0bce
19:40903043 PRX C>T	19	40903043	40903043	C	T	PRX	c.1216G>A	NM_181882.3	NP_870998.2:p.(Ala406Thr)	NC_000019.9:g.40903043C>T	(Likely) benign	2 labs	0b120e3a84
19:50789930 MYH14 C>T	19	50789930	50789930	C	T	MYH14	c.4731C>T	NM_001145809.2	NP_001139281.1:p.(Ser1577=)	NC_000019.9:g.50789930C>T	(Likely) benign	3 labs	0b1a7df064
2:48030604 MSH6 CTA>C	2	48030604	48030607	CTA	C	MSH6	c.3220_3221del	NM_000179.3	NP_000170.1:p.(Met1074ValfsTer18)	NC_000002.11:g.48030606_48030607del	(Likely) pathogenic	2 labs	0b1c7e769d
21:35743131 KCNE2 G>A	21	35743131	35743131	G	A	KCNE2	c.354G>A	NM_172201.2	NP_751951.1:p.(Gly118=)	NC_000021.8:g.35743131G>A	(Likely) benign	2 labs	0b22a12a6a
17:36483116 GPR179 C>T	17	36483116	36483116	C	T	GPR179	c.6336G>A	NM_001004334.4	NP_001004334.3:p.(Ala2112=)	NC_000017.10:g.36483116C>T	(Likely) benign	2 labs	0b22a65d38
4:9270413 USP17L22 T>G	4	9270413	9270413	T	G	USP17L22	c.1069T>G	NM_001256863.1	NP_001243792.1:p.(Ser357Ala)	NC_000004.11:g.9270413T>G	(Likely) benign	2 labs	0b2352e292
7:81591314 CACNA2D1 C>T	7	81591314	81591314	C	T	CACNA2D1	c.2862G>A	NM_000722.4	NP_000713.2:p.(Thr954=)	NC_000007.13:g.81591314C>T	(Likely) benign	2 labs	0b244967a3
10:18795389 CACNB2 C>T	10	18795389	18795389	C	T	CACNB2	c.429-11C>T	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18795389C>T	(Likely) benign	2 labs	0b2c6ce93c
13:103514939 ERCC5 C>T	13	103514939	103514939	C	T	ERCC5	c.1440C>T	NM_000123.4	NP_000114.3:p.(His480=)	NC_000013.10:g.103514939C>T	(Likely) benign	2 labs	0b377b8266
20:10624502 JAG1 G>A	20	10624502	10624502	G	A	JAG1	c.2382C>T	NM_000214.3	NP_000205.1:p.(Ser794=)	NC_000020.10:g.10624502G>A	(Likely) benign	2 labs	0b40fae1b5
15:89824510 FANCI A>G	15	89824510	89824510	A	G	FANCI	c.1491A>G	NM_001113378.2	NP_001106849.1:p.(Gln497=)	NC_000015.9:g.89824510A>G	(Likely) benign	2 labs	0b4285fba9
13:32950868 BRCA2 G>A	13	32950868	32950868	G	A	BRCA2	c.8694G>A	NM_000059.4	NP_000050.3:p.(Leu2898=)	NC_000013.10:g.32950868G>A	(Likely) benign	6 labs	0b472c7a56
11:123516441 SCN3B C>A	11	123516441	123516441	C	A	SCN3B	c.73G>T	NM_018400.4	NP_060870.1:p.(Val25Leu)	NC_000011.9:g.123516441C>A	VUS	2 labs	0b4f6c1bca
X:153421981 OPN1LW C>T	X	153421981	153421981	C	T	OPN1LW	c.957C>T	NM_020061.6	NP_064445.2:p.(Pro319=)	NC_000023.10:g.153421981C>T	(Likely) benign	2 labs	0b560ef10b
1:156107028 LMNA G>C	1	156107028	156107028	G	C	LMNA	c.1608+5G>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156107028G>C	(Likely) pathogenic	4 labs	0b5f7fa619
6:100868779 SIM1 G>A	6	100868779	100868779	G	A	SIM1	c.1054C>T	NM_005068.3	NP_005059.2:p.(Pro352Ser)	NC_000006.11:g.100868779G>A	(Likely) benign	2 labs	0b6f2ba971
1:1470752 TMEM240 G>A	1	1470752	1470752	G	A	TMEM240	c.509C>T	NM_001114748.2	NP_001108220.1:p.(Pro170Leu)	NC_000001.10:g.1470752G>A	(Likely) pathogenic	3 labs	0b62d06a9a
1:35250842 GJB3 G>A	1	35250842	35250842	G	A	GJB3	c.479G>A	NM_024009.3	NP_076872.1:p.(Arg160His)	NC_000001.10:g.35250842G>A	(Likely) benign	2 labs	0b6f49f51d
5:112824039 MCC T>TGCTGCTGCC	5	112824039	112824045	T	TGCTGCTGCC	MCC	c.72_73insGGCAGCAGC	NM_001085377.2	NP_001078846.2:p.(Ser24_Ser25insGlySerSer)	NC_000005.9:g.112824044_112824045insTGCCGCTGC	(Likely) benign	3 labs	0b86ee39da
1:3342726 PRDM16 C>T	1	3342726	3342726	C	T	PRDM16	c.3221C>T	NM_022114.4	NP_071397.3:p.(Ser1074Leu)	NC_000001.10:g.3342726C>T	VUS	2 labs	0b885c5997
6:129762112 LAMA2 G>A	6	129762112	129762112	G	A	LAMA2	c.6237G>A	NM_000426.4	NP_000417.3:p.(Thr2079=)	NC_000006.11:g.129762112G>A	(Likely) benign	2 labs	0b8a6165ae
6:112508755 LAMA4 G>C	6	112508755	112508755	G	C	LAMA4	c.863C>G	NM_001105206.3	NP_001098676.2:p.(Ala288Gly)	NC_000006.11:g.112508755G>C	(Likely) benign	5 labs	0b8b954155
2:27427681 SLC5A6 G>A	2	27427681	27427681	G	A	SLC5A6	c.853C>T	NM_021095.4	NP_066918.2:p.(Arg285Cys)	NC_000002.11:g.27427681G>A	VUS	2 labs	0b95698026
2:86115992 ST3GAL5 G>A	2	86115992	86115992	G	A	ST3GAL5	c.37C>T	NM_003896.4	NP_003887.3:p.(Pro13Ser)	NC_000002.11:g.86115992G>A	(Likely) benign	2 labs	0b9cb589b5
16:51171083 SALL1 G>A	16	51171083	51171083	G	A	SALL1	c.3624C>T	NM_001127892.2	NP_001121364.1:p.(Asn1208=)	NC_000016.9:g.51171083G>A	(Likely) benign	2 labs	0b9d268587
5:1443199 SLC6A3 G>A	5	1443199	1443199	G	A	SLC6A3	c.114C>T	NM_001044.5	NP_001035.1:p.(Asn38=)	NC_000005.9:g.1443199G>A	(Likely) benign	3 labs	0ba36f232f
6:66044994 EYS CCTGA>C	6	66044994	66045001	CCTGA	C	EYS	c.1641_1644del	NM_001292009.2	NP_001278938.1:p.(Ser547ArgfsTer62)	NC_000006.11:g.66044998_66045001del	(Likely) pathogenic	2 labs	0ba73480da
11:87847209 RAB38 G>T	11	87847209	87847209	G	T	RAB38	c.583C>A	NM_022337.3	NP_071732.1:p.(Pro195Thr)	NC_000011.9:g.87847209G>T	(Likely) benign	2 labs	0ba8741396
11:108183233 ATM T>C	11	108183233	108183233	T	C	ATM	c.6006+8T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108183233T>C	(Likely) benign	2 labs	0bb6cdf457
19:49675038 TRPM4 G>GGGGC	19	49675038	49675042	G	GGGGC	TRPM4	c.1050+13_1050+16dup	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49675039_49675042dup	(Likely) benign	2 labs	0bc56c1188
15:80872845 ARNT2 G>T	15	80872845	80872845	G	T	ARNT2	c.1707G>T	NM_014862.4	NP_055677.3:p.(Gln569His)	NC_000015.9:g.80872845G>T	VUS	2 labs	0bcf36423c
16:68842668 CDH1 G>A	16	68842668	68842668	G	A	CDH1	c.604G>A	NM_004360.5	NP_004351.1:p.(Val202Ile)	NC_000016.9:g.68842668G>A	(Likely) benign	2 labs	0bd1c2c1b6
8:61769195 CHD7 A>G	8	61769195	61769195	A	G	CHD7	c.7356A>G	NM_017780.4	NP_060250.2:p.(Thr2452=)	NC_000008.10:g.61769195A>G	(Likely) benign	3 labs	0bd9143fb8
17:44051743 MAPT G>A	17	44051743	44051743	G	A	MAPT	c.221-8G>A	NM_001123066.4	NP_001116538.2:p.?	NC_000017.10:g.44051743G>A	(Likely) benign	2 labs	0bd92a5d5c
18:57134005 CCBE1 T>C	18	57134005	57134005	T	C	CCBE1	c.519A>G	NM_133459.4	NP_597716.1:p.(Thr173=)	NC_000018.9:g.57134005T>C	(Likely) benign	4 labs	0bdbb45d97
12:56748273 STAT2 G>A	12	56748273	56748273	G	A	STAT2	c.759C>T	NM_005419.4	NP_005410.1:p.(His253=)	NC_000012.11:g.56748273G>A	(Likely) benign	3 labs	0beaadc00c
X:133548000 PHF6 A>G	X	133548000	133548000	A	G	PHF6	c.729+4A>G	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133548000A>G	(Likely) benign	3 labs	0bfac7d6bf
6:26091185 HFE A>T	6	26091185	26091185	A	T	HFE	c.193A>T	NM_000410.3	NP_000401.1:p.(Ser65Cys)	NC_000006.11:g.26091185A>T	(Likely) benign	3 labs	0c022c14f4
19:55665525 TNNI3 C>T	19	55665525	55665525	C	T	TNNI3	c.422G>A	NM_000363.5	NP_000354.4:p.(Arg141Gln)	NC_000019.9:g.55665525C>T	(Likely) pathogenic	2 labs	0c0b30e72a
16:3658631 SLX4 G>A	16	3658631	3658631	G	A	SLX4	c.335C>T	NM_032444.4	NP_115820.2:p.(Pro112Leu)	NC_000016.9:g.3658631G>A	(Likely) benign	2 labs	0c0dd09834
8:1830812 ARHGEF10 C>T	8	1830812	1830812	C	T	ARHGEF10	c.1047C>T	NM_001308153.2	NP_001295082.1:p.(Leu349=)	NC_000008.10:g.1830812C>T	(Likely) benign	2 labs	0c15b1da0e
2:189859434 COL3A1 CT>C	2	189859434	189859446	CT	C	COL3A1	c.1348-4del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859446del	(Likely) benign	2 labs	0c16d2a4c4
3:129247620 RHO A>G	3	129247620	129247620	A	G	RHO	c.44A>G	NM_000539.3	NP_000530.1:p.(Asn15Ser)	NC_000003.11:g.129247620A>G	(Likely) pathogenic	3 labs	0c18c8d47b
4:114279300 ANK2 G>T	4	114279300	114279300	G	T	ANK2	c.9667G>T	NM_001386174.1	NP_001373103.1:p.(Asp3223Tyr)	NC_000004.11:g.114279300G>T	(Likely) benign	3 labs	0c20a0b7ef
10:73767986 CHST3 C>T	10	73767986	73767986	C	T	CHST3	c.1197C>T	NM_004273.5	NP_004264.2:p.(Asp399=)	NC_000010.10:g.73767986C>T	(Likely) benign	2 labs	0c218518de
10:121436502 BAG3 C>T	10	121436502	121436502	C	T	BAG3	c.1436C>T	NM_004281.4	NP_004272.2:p.(Ala479Val)	NC_000010.10:g.121436502C>T	(Likely) benign	3 labs	0c3395ed28
8:94792984 TMEM67 A>G	8	94792984	94792984	A	G	TMEM67	c.869+9A>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94792984A>G	(Likely) benign	2 labs	0c3a545766
16:920007 LMF1 G>T	16	920007	920007	G	T	LMF1	c.1292C>A	NM_022773.4	NP_073610.2:p.(Ala431Asp)	NC_000016.9:g.920007G>T	(Likely) benign	2 labs	0c3ce7c6bd
5:37182862 CPLANE1 C>T	5	37182862	37182862	C	T	CPLANE1	c.5421G>A	NM_023073.4	NP_075561.3:p.(Lys1807=)	NC_000005.9:g.37182862C>T	(Likely) benign	3 labs	0c3f05c134
11:68177423 LRP5 C>T	11	68177423	68177423	C	T	LRP5	c.2133C>T	NM_002335.4	NP_002326.2:p.(His711=)	NC_000011.9:g.68177423C>T	(Likely) benign	2 labs	0c47ef16f6
3:123401060 MYLK C>T	3	123401060	123401060	C	T	MYLK	c.3652+11G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123401060C>T	(Likely) benign	3 labs	0c48bc21e3
12:862989 WNK1 T>C	12	862989	862989	T	C	WNK1	c.258T>C	NM_001184985.2	NP_001171914.1:p.(Cys86=)	NC_000012.11:g.862989T>C	(Likely) benign	3 labs	0c4eb91160
16:68771371 CDH1 C>G	16	68771371	68771371	C	G	CDH1	c.48+5C>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68771371C>G	(Likely) benign	2 labs	0c54b4fbc7
11:66288759 BBS1 C>A	11	66288759	66288759	C	A	BBS1	c.742C>A	NM_024649.5	NP_078925.3:p.(Pro248Thr)	NC_000011.9:g.66288759C>A	VUS	2 labs	0c54efd6be
16:49823385 ZNF423 C>T	16	49823385	49823385	C	T	ZNF423	c.-105+13G>A	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49823385C>T	(Likely) benign	2 labs	0c59dd635f
15:67477177 SMAD3 G>A	15	67477177	67477177	G	A	SMAD3	c.984G>A	NM_005902.4	NP_005893.1:p.(Pro328=)	NC_000015.9:g.67477177G>A	(Likely) benign	3 labs	0c5b021c15
2:121712970 GLI2 G>A	2	121712970	121712970	G	A	GLI2	c.607G>A	NM_001371271.1	NP_001358200.1:p.(Ala203Thr)	NC_000002.11:g.121712970G>A	(Likely) benign	2 labs	0c5c74ec0b
2:166797621 TTC21B G>A	2	166797621	166797621	G	A	TTC21B	c.626C>T	NM_024753.5	NP_079029.3:p.(Pro209Leu)	NC_000002.11:g.166797621G>A	(Likely) pathogenic	4 labs	0c6206479b
19:45452018 APOC2 AG>A	19	45452018	45452020	AG	A	APOC2	c.118del	NM_000483.5	NP_000474.2:p.(Val40Ter)	NC_000019.9:g.45452020del	(Likely) pathogenic	2 labs	0c6459c331
13:32937349 BRCA2 G>A	13	32937349	32937349	G	A	BRCA2	c.8010G>A	NM_000059.4	NP_000050.3:p.(Ser2670=)	NC_000013.10:g.32937349G>A	(Likely) benign	4 labs	0c790b3b35
22:50518815 MLC1 C>T	22	50518815	50518815	C	T	MLC1	c.279G>A	NM_015166.4	NP_055981.1:p.(Ser93=)	NC_000022.10:g.50518815C>T	(Likely) benign	3 labs	0c79c19a1a
17:6331720 AIPL1 G>A	17	6331720	6331720	G	A	AIPL1	c.383C>T	NM_014336.5	NP_055151.3:p.(Ala128Val)	NC_000017.10:g.6331720G>A	VUS	2 labs	0c7b7d4d15
4:79351561 FRAS1 G>A	4	79351561	79351561	G	A	FRAS1	c.4959G>A	NM_025074.7	NP_079350.5:p.(Pro1653=)	NC_000004.11:g.79351561G>A	(Likely) benign	2 labs	0c7d3e8373
7:128491606 FLNC G>A	7	128491606	128491606	G	A	FLNC	c.5766G>A	NM_001458.5	NP_001449.3:p.(Ala1922=)	NC_000007.13:g.128491606G>A	(Likely) benign	5 labs	0c835a06bd
2:179440609 TTN A>G	2	179440609	179440609	A	G	TTN	c.70250T>C	NM_001267550.2	NP_001254479.2:p.(Ile23417Thr)	NC_000002.11:g.179440609A>G	(Likely) benign	5 labs	0c88e40c85
2:179407226 TTN A>G	2	179407226	179407226	A	G	TTN	c.97257T>C	NM_001267550.2	NP_001254479.2:p.(Ile32419=)	NC_000002.11:g.179407226A>G	(Likely) benign	4 labs	0c89aa2ab9
10:48390035 RBP3 G>A	10	48390035	48390035	G	A	RBP3	c.843C>T	NM_002900.3	NP_002891.1:p.(Pro281=)	NC_000010.10:g.48390035G>A	(Likely) benign	2 labs	0c8ab9906f
9:130242109 LRSAM1 C>T	9	130242109	130242109	C	T	LRSAM1	c.904-9C>T	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130242109C>T	(Likely) benign	2 labs	0caccb3de9
20:62322152 RTEL1 C>T	20	62322152	62322152	C	T	RTEL1	c.2414-6C>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62322152C>T	(Likely) benign	2 labs	0ca8e94b90
2:179604742 TTN G>A	2	179604742	179604742	G	A	TTN	c.13218C>T	NM_001267550.2	NP_001254479.2:p.(Ala4406=)	NC_000002.11:g.179604742G>A	(Likely) benign	3 labs	0cc3f42014
10:86008759 RGR T>C	10	86008759	86008759	T	C	RGR	c.330T>C	NM_002921.4	NP_002912.2:p.(Ser110=)	NC_000010.10:g.86008759T>C	(Likely) benign	2 labs	0cc72f66bb
14:23858232 MYH6 C>T	14	23858232	23858232	C	T	MYH6	c.4011G>A	NM_002471.4	NP_002462.2:p.(Ser1337=)	NC_000014.8:g.23858232C>T	(Likely) benign	4 labs	0cc9fe7ef3
2:219677092 CYP27A1 G>A	2	219677092	219677092	G	A	CYP27A1	c.594G>A	NM_000784.4	NP_000775.1:p.(Ser198=)	NC_000002.11:g.219677092G>A	(Likely) benign	2 labs	0ccf972f3d
5:1293863 TERT G>A	5	1293863	1293863	G	A	TERT	c.1138C>T	NM_198253.3	NP_937983.2:p.(Pro380Ser)	NC_000005.9:g.1293863G>A	(Likely) benign	3 labs	0cd4b4fb09
X:64753510 LAS1L G>C	X	64753510	64753510	G	C	LAS1L	c.342C>G	NM_031206.7	NP_112483.1:p.(Leu114=)	NC_000023.10:g.64753510G>C	(Likely) benign	2 labs	0cde5db061
16:70928377 HYDIN G>A	16	70928377	70928377	G	A	HYDIN	c.9223C>T	NM_001270974.2	NP_001257903.1:p.(Arg3075Cys)	NC_000016.9:g.70928377G>A	VUS	3 labs	0cecbf5d66
10:104353395 SUFU C>T	10	104353395	104353395	C	T	SUFU	c.600C>T	NM_016169.4	NP_057253.2:p.(Ile200=)	NC_000010.10:g.104353395C>T	(Likely) benign	3 labs	0cfa5dd12c
15:63353998 TPM1 AG>A	15	63353998	63354000	AG	A	TPM1	c.639+13del	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63354000del	(Likely) benign	2 labs	0d06df5b18
11:18309568 HPS5 A>G	11	18309568	18309568	A	G	HPS5	c.2441-8T>C	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18309568A>G	(Likely) benign	2 labs	0d0d0110e5
1:169511465 F5 TA>T	1	169511465	169511466	TA	T	F5	c.2862del	NM_000130.5	NP_000121.2:p.(Ser955AlafsTer4)	NC_000001.10:g.169511466del	(Likely) pathogenic	2 labs	0d0e3be372
10:79769437 POLR3A AG>A	10	79769437	79769444	AG	A	POLR3A	c.1771-5del	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769444del	(Likely) benign	2 labs	0d125af6de
2:179462427 TTN T>C	2	179462427	179462427	T	C	TTN	c.49678A>G	NM_133378.4	NP_596869.4:p.(Met16560Val)	NC_000002.11:g.179462427T>C	VUS	2 labs	0d168c25d8
6:152777095 SYNE1 A>C	6	152777095	152777095	A	C	SYNE1	c.2653T>G	NM_182961.4	NP_892006.3:p.(Leu885Val)	NC_000006.11:g.152777095A>C	(Likely) benign	2 labs	0d1e717dfa
2:179453673 TTN G>A	2	179453673	179453673	G	A	TTN	c.62779C>T	NM_001267550.2	NP_001254479.2:p.(Arg20927Cys)	NC_000002.11:g.179453673G>A	VUS	2 labs	0d1ed8abef
8:22037322 BMP1 G>A	8	22037322	22037322	G	A	BMP1	c.941G>A	NM_006129.5	NP_006120.1:p.(Arg314His)	NC_000008.10:g.22037322G>A	(Likely) benign	2 labs	0d2ccbfa61
16:83932780 MLYCD A>G	16	83932780	83932780	A	G	MLYCD	c.31A>G	NM_012213.3	NP_036345.2:p.(Arg11Gly)	NC_000016.9:g.83932780A>G	(Likely) benign	2 labs	0d2eda4c11
2:179623886 TTN C>T	2	179623886	179623886	C	T	TTN	c.10128G>A	NM_001267550.2	NP_001254479.2:p.(Ser3376=)	NC_000002.11:g.179623886C>T	(Likely) benign	2 labs	0d3ca636fe
2:48030834 MSH6 TCTTA>T	2	48030834	48030838	TCTTA	T	MSH6	c.3438+11_3438+14del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030835_48030838del	(Likely) benign	2 labs	0d3f88b47e
2:179417003 TTN A>G	2	179417003	179417003	A	G	TTN	c.90624T>C	NM_001267550.2	NP_001254479.2:p.(Asn30208=)	NC_000002.11:g.179417003A>G	(Likely) benign	3 labs	0d4107e71b
16:23641119 PALB2 G>A	16	23641119	23641119	G	A	PALB2	c.2356C>T	NM_024675.4	NP_078951.2:p.(His786Tyr)	NC_000016.9:g.23641119G>A	(Likely) benign	2 labs	0d51e3c47d
20:744167 SLC52A3 A>T	20	744167	744167	A	T	SLC52A3	c.1048T>A	NM_033409.4	NP_212134.3:p.(Leu350Met)	NC_000020.10:g.744167A>T	(Likely) benign	3 labs	0d5354fb73
8:62577831 ASPH A>G	8	62577831	62577831	A	G	ASPH	c.657T>C	NM_020164.5	NP_064549.1:p.(Asn219=)	NC_000008.10:g.62577831A>G	(Likely) benign	2 labs	0d57565bb2
14:23871665 MYH6 C>A	14	23871665	23871665	C	A	MYH6	c.1141+8G>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23871665C>A	(Likely) benign	2 labs	0d5bde5e3c
12:2774833 CACNA1C T>C	12	2774833	2774833	T	C	CACNA1C	c.4629T>C	NM_199460.4	NP_955630.3:p.(Asp1543=)	NC_000012.11:g.2774833T>C	(Likely) benign	2 labs	0d76e684d5
22:24108412 CHCHD10 G>A	22	24108412	24108412	G	A	CHCHD10	c.333C>T	NM_001301339.2	NP_001288268.1:p.(Tyr111=)	NC_000022.10:g.24108412G>A	(Likely) benign	2 labs	0d7e0b42a2
17:36495412 GPR179 C>T	17	36495412	36495412	C	T	GPR179	c.795-4G>A	NM_001004334.4	NP_001004334.3:p.?	NC_000017.10:g.36495412C>T	(Likely) benign	2 labs	0d80eb6526
2:179427126 TTN G>A	2	179427126	179427126	G	A	TTN	c.83733C>T	NM_001267550.2	NP_001254479.2:p.(Ser27911=)	NC_000002.11:g.179427126G>A	(Likely) benign	2 labs	0d8a777027
19:10908077 DNM2 C>T	19	10908077	10908077	C	T	DNM2	c.1218C>T	NM_001005361.3	NP_001005361.1:p.(Asp406=)	NC_000019.9:g.10908077C>T	(Likely) benign	2 labs	0d8c191657
17:40481529 STAT3 G>C	17	40481529	40481529	G	C	STAT3	c.1233+43C>G	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40481529G>C	(Likely) benign	2 labs	0d9026a1a0
21:47546060 COL6A2 C>T	21	47546060	47546060	C	T	COL6A2	c.2331C>T	NM_058175.3	NP_478055.2:p.(Cys777=)	NC_000021.8:g.47546060C>T	(Likely) benign	4 labs	0d98ff1ce1
1:156849796 NTRK1 A>G	1	156849796	156849796	A	G	NTRK1	c.2052A>G	NM_002529.4	NP_002520.2:p.(Gly684=)	NC_000001.10:g.156849796A>G	(Likely) benign	2 labs	0d9df0b86f
1:17313244 ATP13A2 CCCCAGGGCTCCT>C	1	17313244	17313259	CCCCAGGGCTCCT	C	ATP13A2	c.3235+44_3235+55del	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17313248_17313259del	(Likely) benign	2 labs	0d9437a687
20:25319977 ABHD12 C>T	20	25319977	25319977	C	T	ABHD12	c.202G>A	NM_001042472.3	NP_001035937.1:p.(Val68Met)	NC_000020.10:g.25319977C>T	(Likely) benign	2 labs	0dba0da7d1
19:10290855 DNMT1 G>A	19	10290855	10290855	G	A	DNMT1	c.493+8C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10290855G>A	(Likely) benign	4 labs	0da3d452eb
11:1780304 CTSD C>T	11	1780304	1780304	C	T	CTSD	c.366G>A	NM_001909.5	NP_001900.1:p.(Lys122=)	NC_000011.9:g.1780304C>T	(Likely) benign	2 labs	0db6a2e9e0
15:44862709 SPG11 AG>A	15	44862709	44862714	AG	A	SPG11	c.6477+13del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44862714del	(Likely) benign	3 labs	0dc4c24a71
14:105175085 INF2 A>G	14	105175085	105175085	A	G	INF2	c.1949+16A>G	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105175085A>G	(Likely) benign	2 labs	0dc2899c88
X:15349740 PIGA T>G	X	15349740	15349740	T	G	PIGA	c.313A>C	NM_002641.4	NP_002632.1:p.(Thr105Pro)	NC_000023.10:g.15349740T>G	VUS	2 labs	0dc8b937a5
X:100653379 GLA C>T	X	100653379	100653379	C	T	GLA	c.978G>A	NM_000169.3	NP_000160.1:p.(Lys326=)	NC_000023.10:g.100653379C>T	(Likely) benign	4 labs	0dd2a7a0d1
12:32975421 PKP2 G>A	12	32975421	32975421	G	A	PKP2	c.1951C>T	NM_004572.4	NP_004563.2:p.(Arg651Ter)	NC_000012.11:g.32975421G>A	(Likely) pathogenic	2 labs	0ded50bc23
14:64580075 SYNE2 T>C	14	64580075	64580075	T	C	SYNE2	c.12626T>C	NM_182914.3	NP_878918.2:p.(Ile4209Thr)	NC_000014.8:g.64580075T>C	(Likely) benign	2 labs	0de66defe1
18:28651795 DSC2 C>T	18	28651795	28651795	C	T	DSC2	c.1901G>A	NM_004949.5	NP_004940.1:p.(Arg634His)	NC_000018.9:g.28651795C>T	(Likely) benign	2 labs	0de7764e53
3:52486216 TNNC1 G>T	3	52486216	52486216	G	T	TNNC1	c.108C>A	NM_003280.3	NP_003271.1:p.(Ile36=)	NC_000003.11:g.52486216G>T	(Likely) benign	3 labs	0de79db2b5
14:23855844 MYH6 T>G	14	23855844	23855844	T	G	MYH6	c.4651-12A>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855844T>G	(Likely) benign	4 labs	0ded036fa1
2:179515497 TTN C>T	2	179515497	179515497	C	T	TTN	c.39690G>A	NM_001267550.2	NP_001254479.2:p.(Ala13230=)	NC_000002.11:g.179515497C>T	(Likely) benign	2 labs	0df6cde955
12:110231773 TRPV4 T>C	12	110231773	110231773	T	C	TRPV4	c.1546A>G	NM_021625.5	NP_067638.3:p.(Ile516Val)	NC_000012.11:g.110231773T>C	(Likely) benign	3 labs	0dfc8152d9
16:15865545 MYH11 T>C	16	15865545	15865545	T	C	MYH11	c.935A>G	NM_001040113.2	NP_001035202.1:p.(Asn312Ser)	NC_000016.9:g.15865545T>C	(Likely) benign	4 labs	0dff295d72
11:31625373 ELP4 C>A	11	31625373	31625373	C	A	ELP4	c.572C>A	NM_001288726.2	NP_001275655.1:p.(Pro191Gln)	NC_000011.9:g.31625373C>A	(Likely) benign	2 labs	0e07434f60
8:94777801 TMEM67 CAG>C	8	94777801	94777803	CAG	C	TMEM67	c.579_580del	NM_153704.6	NP_714915.3:p.(Gly195IlefsTer13)	NC_000008.10:g.94777802_94777803del	(Likely) pathogenic	2 labs	0e0751430b
12:22089451 ABCC9 A>AT	12	22089451	22089452	A	AT	ABCC9	c.142+15dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22089452dup	(Likely) benign	2 labs	0e0a0b519e
17:73513289 TSEN54 C>G	17	73513289	73513289	C	G	TSEN54	c.333C>G	NM_207346.3	NP_997229.2:p.(Arg111=)	NC_000017.10:g.73513289C>G	(Likely) benign	2 labs	0e0ae7a024
14:23854155 MYH6 G>A	14	23854155	23854155	G	A	MYH6	c.5259C>T	NM_002471.4	NP_002462.2:p.(Ala1753=)	NC_000014.8:g.23854155G>A	(Likely) benign	3 labs	0e0d51907a
15:63335910 TPM1 G>A	15	63335910	63335910	G	A	TPM1	c.120G>A	NM_001018007.2	NP_001018007.1:p.(Glu40=)	NC_000015.9:g.63335910G>A	(Likely) benign	4 labs	0e37064ba5
5:14143875 TRIO C>T	5	14143875	14143875	C	T	TRIO	c.41C>T	NM_007118.4	NP_009049.2:p.(Ser14Phe)	NC_000005.9:g.14143875C>T	(Likely) benign	2 labs	0e4d942de7
X:48214185 SSX3 C>CA	X	48214185	48214199	C	CA	SSX3	c.70-5dup	NM_021014.4	NP_066294.1:p.?	NC_000023.10:g.48214199dup	(Likely) benign	2 labs	0e51869780
11:47355195 MYBPC3 C>T	11	47355195	47355195	C	T	MYBPC3	c.3103G>A	NM_000256.3	NP_000247.2:p.(Ala1035Thr)	NC_000011.9:g.47355195C>T	VUS	3 labs	0e5d89ef92
15:65917660 SLC24A1 C>G	15	65917660	65917660	C	G	SLC24A1	c.1242C>G	NM_004727.3	NP_004718.1:p.(Ala414=)	NC_000015.9:g.65917660C>G	(Likely) benign	2 labs	0e64c9f719
2:179499107 TTN C>T	2	179499107	179499107	C	T	TTN	c.42401G>A	NM_001267550.2	NP_001254479.2:p.(Arg14134Gln)	NC_000002.11:g.179499107C>T	VUS	2 labs	0e6c162d8a
X:10535513 MID1 G>A	X	10535513	10535513	G	A	MID1	c.75C>T	NM_000381.4	NP_000372.1:p.(Cys25=)	NC_000023.10:g.10535513G>A	(Likely) benign	2 labs	0e7872b410
18:21120381 NPC1 TA>T	18	21120381	21120397	TA	T	NPC1	c.2604+30del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21120397del	(Likely) benign	2 labs	0e7e84bf0e
4:123663402 BBS12 G>A	4	123663402	123663402	G	A	BBS12	c.355G>A	NM_152618.3	NP_689831.2:p.(Gly119Ser)	NC_000004.11:g.123663402G>A	(Likely) benign	2 labs	0e810411d0
19:4117399 MAP2K2 C>T	19	4117399	4117399	C	T	MAP2K2	c.303+18G>A	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4117399C>T	(Likely) benign	2 labs	0e87a1dfd0
1:94493000 ABCA4 C>T	1	94493000	94493000	C	T	ABCA4	c.4539+2001G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94493000C>T	(Likely) pathogenic	3 labs	0e8c0d8655
1:237620048 RYR2 A>G	1	237620048	237620048	A	G	RYR2	c.1612+13A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237620048A>G	(Likely) benign	2 labs	0e92fa466e
10:68526127 CTNNA3 C>T	10	68526127	68526127	C	T	CTNNA3	c.1176G>A	NM_013266.4	NP_037398.2:p.(Thr392=)	NC_000010.10:g.68526127C>T	(Likely) benign	2 labs	0e99c2a592
1:103400661 COL11A1 G>A	1	103400661	103400661	G	A	COL11A1	c.3483C>T	NM_080629.3	NP_542196.2:p.(Pro1161=)	NC_000001.10:g.103400661G>A	(Likely) benign	2 labs	0e99e8ed67
14:23859394 MYH6 C>T	14	23859394	23859394	C	T	MYH6	c.3604G>A	NM_002471.4	NP_002462.2:p.(Val1202Met)	NC_000014.8:g.23859394C>T	VUS	2 labs	0e9a07cecc
12:133263825 POLE G>A	12	133263825	133263825	G	A	POLE	c.62+15C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133263825G>A	(Likely) benign	2 labs	0e9e61ab4b
5:112111407 APC AATAG>A	5	112111407	112111415	AATAG	A	APC	c.509_512del	NM_000038.6	NP_000029.2:p.(Asp170ValfsTer4)	NC_000005.9:g.112111412_112111415del	(Likely) pathogenic	2 labs	0eb3820384
16:89805495 FANCA G>A	16	89805495	89805495	G	A	FANCA	c.4167+46C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805495G>A	(Likely) benign	2 labs	0ec356fdcd
3:38651303 SCN5A C>A	3	38651303	38651303	C	A	SCN5A	c.856G>T	NM_198056.3	NP_932173.1:p.(Ala286Ser)	NC_000003.11:g.38651303C>A	(Likely) benign	3 labs	0eca5b7404
14:92336574 FBLN5 T>C	14	92336574	92336574	T	C	FBLN5	c.1341A>G	NM_006329.4	NP_006320.2:p.(Pro447=)	NC_000014.8:g.92336574T>C	(Likely) benign	2 labs	0ed39b02ac
13:23910488 SACS A>G	13	23910488	23910488	A	G	SACS	c.7527T>C	NM_014363.6	NP_055178.3:p.(Tyr2509=)	NC_000013.10:g.23910488A>G	(Likely) benign	2 labs	0ed9c19c4f
3:148919880 CP A>G	3	148919880	148919880	A	G	CP	c.1348+9T>C	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148919880A>G	(Likely) benign	2 labs	0ee88260c6
6:32015793 TNXB G>A	6	32015793	32015793	G	A	TNXB	c.10040-4C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32015793G>A	(Likely) benign	2 labs	0eef29e528
7:30634630 GARS1 G>C	7	30634630	30634630	G	C	GARS1	c.93G>C	NM_002047.4	NP_002038.2:p.(Leu31=)	NC_000007.13:g.30634630G>C	(Likely) benign	2 labs	0eefb86446
7:150648928 KCNH2 G>A	7	150648928	150648928	G	A	KCNH2	c.1558-5C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150648928G>A	(Likely) benign	2 labs	0ef1b60643
5:148427425 SH3TC2 C>T	5	148427425	148427425	C	T	SH3TC2	c.279G>A	NM_024577.4	NP_078853.2:p.(Lys93=)	NC_000005.9:g.148427425C>T	(Likely) pathogenic	2 labs	0ef1d24aca
14:23898488 MYH7 G>A	14	23898488	23898488	G	A	MYH7	c.1207C>T	NM_000257.4	NP_000248.2:p.(Arg403Trp)	NC_000014.8:g.23898488G>A	(Likely) pathogenic	4 labs	0ef5751edc
2:179634465 TTN G>A	2	179634465	179634465	G	A	TTN	c.8843C>T	NM_001267550.2	NP_001254479.2:p.(Ser2948Leu)	NC_000002.11:g.179634465G>A	VUS	2 labs	0efc6c856d
2:44079559 ABCG8 G>A	2	44079559	44079559	G	A	ABCG8	c.628G>A	NM_022437.3	NP_071882.1:p.(Val210Met)	NC_000002.11:g.44079559G>A	(Likely) benign	2 labs	0f04fbc8c9
13:21729952 SKA3 T>TA	13	21729952	21729964	T	TA	SKA3	c.1120-3dup	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729964dup	(Likely) benign	2 labs	0f0637ad50
15:85383450 ALPK3 G>A	15	85383450	85383450	G	A	ALPK3	c.940G>A	NM_020778.5	NP_065829.4:p.(Ala314Thr)	NC_000015.9:g.85383450G>A	(Likely) benign	3 labs	0f095492b8
16:88500367 ZNF469 G>A	16	88500367	88500367	G	A	ZNF469	c.6489G>A	NM_001367624.2	NP_001354553.1:p.(Gln2163=)	NC_000016.9:g.88500367G>A	(Likely) benign	2 labs	0f0f944d29
2:38301996 CYP1B1 GC>G	2	38301996	38301998	GC	G	CYP1B1	c.535del	NM_000104.4	NP_000095.2:p.(Ala179ArgfsTer18)	NC_000002.11:g.38301998del	(Likely) pathogenic	2 labs	0f154fd105
12:32777902 FGD4 T>C	12	32777902	32777902	T	C	FGD4	c.511-8T>C	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32777902T>C	(Likely) benign	2 labs	0f267b7df1
X:41333904 NYX G>A	X	41333904	41333904	G	A	NYX	c.1198G>A	NM_022567.2	NP_072089.1:p.(Gly400Ser)	NC_000023.10:g.41333904G>A	(Likely) benign	2 labs	0f2dfc18b8
6:5187217 LYRM4 T>TA	6	5187217	5187232	T	TA	LYRM4	c.207+29633dup	NM_001164841.3	NP_001158313.1:p.?	NC_000006.11:g.5187232dup	(Likely) benign	2 labs	0f43dea717
16:3632347 SLX4 T>C	16	3632347	3632347	T	C	SLX4	c.5501A>G	NM_032444.4	NP_115820.2:p.(Asn1834Ser)	NC_000016.9:g.3632347T>C	(Likely) benign	3 labs	0f45beb2d7
11:47355281 MYBPC3 G>T	11	47355281	47355281	G	T	MYBPC3	c.3017C>A	NM_000256.3	NP_000247.2:p.(Thr1006Asn)	NC_000011.9:g.47355281G>T	VUS	2 labs	0f47b2fa36
8:48841708 PRKDC G>A	8	48841708	48841708	G	A	PRKDC	c.2083C>T	NM_006904.7	NP_008835.5:p.(Pro695Ser)	NC_000008.10:g.48841708G>A	(Likely) benign	2 labs	0f4ad71700
1:3319461 PRDM16 C>T	1	3319461	3319461	C	T	PRDM16	c.783C>T	NM_022114.4	NP_071397.3:p.(Tyr261=)	NC_000001.10:g.3319461C>T	(Likely) benign	2 labs	0f4d755620
1:112525028 KCND3 G>T	1	112525028	112525028	G	T	KCND3	c.321C>A	NM_004980.5	NP_004971.2:p.(Arg107=)	NC_000001.10:g.112525028G>T	(Likely) benign	2 labs	0f5227fefd
15:45403700 DUOX2 C>G	15	45403700	45403700	C	G	DUOX2	c.597G>C	NM_014080.5	NP_054799.4:p.(Ser199=)	NC_000015.9:g.45403700C>G	(Likely) benign	2 labs	0f57329f37
11:76918340 MYO7A G>A	11	76918340	76918340	G	A	MYO7A	c.5749G>A	NM_000260.4	NP_000251.3:p.(Glu1917Lys)	NC_000011.9:g.76918340G>A	VUS	3 labs	0f5b0c4197
3:14176703 TMEM43 G>A	3	14176703	14176703	G	A	TMEM43	c.751G>A	NM_024334.3	NP_077310.1:p.(Asp251Asn)	NC_000003.11:g.14176703G>A	VUS	2 labs	0f5deb73f3
6:7577293 DSP A>C	6	7577293	7577293	A	C	DSP	c.2877+18A>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577293A>C	(Likely) benign	3 labs	0f5e3120b7
7:590148 PRKAR1B G>A	7	590148	590148	G	A	PRKAR1B	c.1065C>T	NM_001164761.2	NP_001158233.1:p.(Phe355=)	NC_000007.13:g.590148G>A	(Likely) benign	2 labs	0f6e6d1961
12:1902879 CACNA2D4 G>A	12	1902879	1902879	G	A	CACNA2D4	c.3356C>T	NM_172364.5	NP_758952.4:p.(Pro1119Leu)	NC_000012.11:g.1902879G>A	(Likely) benign	2 labs	0f6f02a195
11:61724901 BEST1 T>A	11	61724901	61724901	T	A	BEST1	c.499T>A	NM_001139443.2	NP_001132915.1:p.(Tyr167Asn)	NC_000011.9:g.61724901T>A	(Likely) pathogenic	4 labs	0f77d394ef
19:17746940 UNC13A C>T	19	17746940	17746940	C	T	UNC13A	c.3108G>A	NM_001080421.3	NP_001073890.2:p.(Glu1036=)	NC_000019.9:g.17746940C>T	(Likely) benign	2 labs	0f792d2456
8:68062182 CSPP1 CTT>C	8	68062182	68062206	CTT	C	CSPP1	c.1079-4054_1079-4053del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062205_68062206del	(Likely) benign	2 labs	0f7a13133d
2:179436963 TTN A>G	2	179436963	179436963	A	G	TTN	c.73896T>C	NM_001267550.2	NP_001254479.2:p.(Ser24632=)	NC_000002.11:g.179436963A>G	(Likely) benign	2 labs	0f8970b444
2:238271882 COL6A3 T>TA	2	238271882	238271890	T	TA	COL6A3	c.6063+13dup	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238271890dup	(Likely) benign	2 labs	0f8ee36c84
6:71010040 COL9A1 C>T	6	71010040	71010040	C	T	COL9A1	c.138G>A	NM_001851.6	NP_001842.3:p.(Lys46=)	NC_000006.11:g.71010040C>T	(Likely) benign	2 labs	0f901b60d7
14:88452953 GALC AGAG>A	14	88452953	88452959	AGAG	A	GALC	c.329-10_329-8del	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88452957_88452959del	(Likely) benign	2 labs	0f90e05217
7:128034957 IMPDH1 C>T	7	128034957	128034957	C	T	IMPDH1	c.1536G>A	NM_000883.4	NP_000874.2:p.(Gln512=)	NC_000007.13:g.128034957C>T	(Likely) benign	2 labs	0f939199a6
1:2237525 SKI C>T	1	2237525	2237525	C	T	SKI	c.1834C>T	NM_003036.4	NP_003027.1:p.(Leu612=)	NC_000001.10:g.2237525C>T	(Likely) benign	2 labs	0f9e7e063f
1:235611650 TBCE T>C	1	235611650	235611650	T	C	TBCE	c.1553-14T>C	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235611650T>C	(Likely) benign	2 labs	0f9f5a0ee1
2:179528782 TTN C>T	2	179528782	179528782	C	T	TTN	c.36324G>A	NM_001267550.2	NP_001254479.2:p.(Ser12108=)	NC_000002.11:g.179528782C>T	(Likely) benign	2 labs	0fa3e74011
X:153648447 TAFAZZIN C>T	X	153648447	153648447	C	T	TAFAZZIN	c.646+14C>T	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153648447C>T	(Likely) benign	2 labs	0fa86a16be
3:38592952 SCN5A G>A	3	38592952	38592952	G	A	SCN5A	c.4911C>T	NM_198056.3	NP_932173.1:p.(Ile1637=)	NC_000003.11:g.38592952G>A	(Likely) benign	2 labs	0fbc6c7bea
1:156105059 LMNA C>T	1	156105059	156105059	C	T	LMNA	c.892C>T	NM_170707.4	NP_733821.1:p.(Arg298Cys)	NC_000001.10:g.156105059C>T	(Likely) pathogenic	3 labs	0fc47d4cdb
4:55155179 PDGFRA C>T	4	55155179	55155179	C	T	PDGFRA	c.2778C>T	NM_006206.6	NP_006197.1:p.(Tyr926=)	NC_000004.11:g.55155179C>T	(Likely) benign	2 labs	0fd1a1c153
13:32910762 BRCA2 A>G	13	32910762	32910762	A	G	BRCA2	c.2270A>G	NM_000059.4	NP_000050.3:p.(Lys757Arg)	NC_000013.10:g.32910762A>G	(Likely) benign	2 labs	0fd93f9dab
1:5947504 NPHP4 G>A	1	5947504	5947504	G	A	NPHP4	c.2327C>T	NM_015102.5	NP_055917.1:p.(Pro776Leu)	NC_000001.10:g.5947504G>A	VUS	2 labs	0fdddefe70
21:34011412 SYNJ1 G>A	21	34011412	34011412	G	A	SYNJ1	c.3838C>T	NM_003895.3	NP_003886.3:p.(Leu1280=)	NC_000021.8:g.34011412G>A	(Likely) benign	2 labs	0ff424103e
3:46900970 MYL3 G>A	3	46900970	46900970	G	A	MYL3	c.476C>T	NM_000258.3	NP_000249.1:p.(Thr159Met)	NC_000003.11:g.46900970G>A	VUS	2 labs	0ffda0d015
11:6653768 DCHS1 C>T	11	6653768	6653768	C	T	DCHS1	c.2975G>A	NM_003737.4	NP_003728.1:p.(Gly992Glu)	NC_000011.9:g.6653768C>T	(Likely) benign	4 labs	1005e1f0db
14:23859657 MYH6 TG>T	14	23859657	23859660	TG	T	MYH6	c.3343-3del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23859660del	(Likely) benign	5 labs	0ffcb6cfe6
8:61765797 CHD7 C>T	8	61765797	61765797	C	T	CHD7	c.6513C>T	NM_017780.4	NP_060250.2:p.(Ala2171=)	NC_000008.10:g.61765797C>T	(Likely) benign	2 labs	100da09ac7
16:2138219 TSC2 C>T	16	2138219	2138219	C	T	TSC2				NC_000016.9:g.2138219C>T	(Likely) benign	2 labs	1015a5f49c
13:32912408 BRCA2 G>A	13	32912408	32912408	G	A	BRCA2	c.3916G>A	NM_000059.4	NP_000050.3:p.(Val1306Ile)	NC_000013.10:g.32912408G>A	(Likely) benign	2 labs	1015ba135e
15:23889502 MAGEL2 C>T	15	23889502	23889502	C	T	MAGEL2	c.3388G>A	NM_019066.5	NP_061939.3:p.(Asp1130Asn)	NC_000015.9:g.23889502C>T	(Likely) benign	2 labs	101b0e2b7b
1:94463565 ABCA4 GGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCA>G	1	94463565	94463603	GGGAAGTTCCCCTGGAAGAACTGCTCCACAGGGTTCA	G	ABCA4	c.6545_6580del	NM_000350.3	NP_000341.2:p.(Leu2182_Phe2193del)	NC_000001.10:g.94463568_94463603del	(Likely) pathogenic	2 labs	101bf9f726
21:46323456 ITGB2 G>A	21	46323456	46323456	G	A	ITGB2	c.329-6C>T	NM_000211.5	NP_000202.3:p.?	NC_000021.8:g.46323456G>A	(Likely) benign	2 labs	1025af9f96
14:102516487 DYNC1H1 G>A	14	102516487	102516487	G	A	DYNC1H1	c.13764G>A	NM_001376.5	NP_001367.2:p.(Thr4588=)	NC_000014.8:g.102516487G>A	(Likely) benign	2 labs	102bc43515
10:18787276 CACNB2 C>T	10	18787276	18787276	C	T	CACNB2	c.169-8C>T	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18787276C>T	(Likely) benign	3 labs	1031a85123
9:135152543 SETX T>TA	9	135152543	135152555	T	TA	SETX	c.6843-5dup	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135152555dup	(Likely) benign	5 labs	104b732fe1
1:11073982 TARDBP T>C	1	11073982	11073982	T	C	TARDBP	c.198T>C	NM_007375.4	NP_031401.1:p.(Ala66=)	NC_000001.10:g.11073982T>C	(Likely) benign	3 labs	103bd776c4
2:179431938 TTN T>C	2	179431938	179431938	T	C	TTN	c.78921A>G	NM_001267550.2	NP_001254479.2:p.(Thr26307=)	NC_000002.11:g.179431938T>C	(Likely) benign	2 labs	104151030a
19:38987106 RYR1 C>T	19	38987106	38987106	C	T	RYR1	c.6721C>T	NM_000540.3	NP_000531.2:p.(Arg2241Ter)	NC_000019.9:g.38987106C>T	(Likely) pathogenic	3 labs	104b7e9111
20:10625543 JAG1 T>C	20	10625543	10625543	T	C	JAG1	c.2312A>G	NM_000214.3	NP_000205.1:p.(Lys771Arg)	NC_000020.10:g.10625543T>C	VUS	2 labs	104c740593
5:1411412 SLC6A3 T>C	5	1411412	1411412	T	C	SLC6A3	c.1215A>G	NM_001044.5	NP_001035.1:p.(Ser405=)	NC_000005.9:g.1411412T>C	(Likely) benign	3 labs	1059ead9a6
2:73828453 ALMS1 C>T	2	73828453	73828453	C	T	ALMS1	c.12007C>T	NM_015120.4	NP_055935.4:p.(Arg4003Trp)	NC_000002.11:g.73828453C>T	VUS	3 labs	105c7e8a33
2:179412022 TTN G>A	2	179412022	179412022	G	A	TTN	c.94230C>T	NM_001267550.2	NP_001254479.2:p.(Ser31410=)	NC_000002.11:g.179412022G>A	(Likely) benign	2 labs	105fd38783
13:52513298 ATP7B G>A	13	52513298	52513298	G	A	ATP7B	c.3588C>T	NM_000053.4	NP_000044.2:p.(Asp1196=)	NC_000013.10:g.52513298G>A	(Likely) benign	2 labs	106cf8f618
1:156105772 LMNA G>A	1	156105772	156105772	G	A	LMNA	c.1017G>A	NM_170707.4	NP_733821.1:p.(Ala339=)	NC_000001.10:g.156105772G>A	(Likely) benign	5 labs	106e9ba38d
17:75494731 SEPTIN9 G>A	17	75494731	75494731	G	A	SEPTIN9	c.1698G>A	NM_006640.5	NP_006631.2:p.(Pro566=)	NC_000017.10:g.75494731G>A	(Likely) benign	4 labs	106f66ba1f
19:13318208 CACNA1A G>C	19	13318208	13318208	G	C	CACNA1A	c.7458C>G	NM_023035.3	NP_075461.2:p.(His2486Gln)	NC_000019.9:g.13318208G>C	(Likely) benign	4 labs	106fab57fd
7:30634582 GARS1 TCTG>T	7	30634582	30634598	TCTG	T	GARS1	c.59_61del	NM_002047.4	NP_002038.2:p.(Leu20del)	NC_000007.13:g.30634596_30634598del	(Likely) benign	3 labs	108615d8fb
9:139402584 NOTCH1 G>A	9	139402584	139402584	G	A	NOTCH1	c.3333C>T	NM_017617.5	NP_060087.3:p.(Asp1111=)	NC_000009.11:g.139402584G>A	(Likely) benign	3 labs	108df98bfc
10:73377172 CDH23 C>T	10	73377172	73377172	C	T	CDH23	c.1156C>T	NM_001171932.2	NP_001165403.1:p.(Pro386Ser)	NC_000010.10:g.73377172C>T	(Likely) benign	2 labs	10926ca360
17:78083813 GAA G>T	17	78083813	78083813	G	T	GAA	c.1396G>T	NM_000152.5	NP_000143.2:p.(Val466Phe)	NC_000017.10:g.78083813G>T	(Likely) pathogenic	2 labs	109bb194db
2:25468174 DNMT3A T>C	2	25468174	25468174	T	C	DNMT3A	c.1502A>G	NM_022552.5	NP_072046.2:p.(Asn501Ser)	NC_000002.11:g.25468174T>C	(Likely) benign	2 labs	10a469b8b8
19:49714497 TRPM4 C>T	19	49714497	49714497	C	T	TRPM4	c.3611C>T	NM_017636.4	NP_060106.2:p.(Pro1204Leu)	NC_000019.9:g.49714497C>T	(Likely) benign	2 labs	10a6c71e8f
9:35057110 VCP C>A	9	35057110	35057110	C	A	VCP	c.*4G>T	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35057110C>A	(Likely) benign	2 labs	10c3a676ba
9:14842588 FREM1 G>A	9	14842588	14842588	G	A	FREM1	c.1464C>T	NM_144966.7	NP_659403.4:p.(Ser488=)	NC_000009.11:g.14842588G>A	(Likely) benign	2 labs	10c3e3cd2e
19:11333459 DOCK6 CAG>C	19	11333459	11333461	CAG	C	DOCK6	c.3190_3191del	NM_020812.4	NP_065863.2:p.(Leu1064ValfsTer60)	NC_000019.9:g.11333460_11333461del	(Likely) pathogenic	2 labs	10cd891fd2
4:170482883 NEK1 A>G	4	170482883	170482883	A	G	NEK1	c.1146T>C	NM_001199397.3	NP_001186326.1:p.(Ile382=)	NC_000004.11:g.170482883A>G	(Likely) benign	2 labs	10d767cfa3
1:237765311 RYR2 TA>T	1	237765311	237765314	TA	T	RYR2	c.4597-11del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237765314del	(Likely) benign	4 labs	10dc2c0eab
14:23896927 MYH7 G>T	14	23896927	23896927	G	T	MYH7	c.1755C>A	NM_000257.4	NP_000248.2:p.(Ile585=)	NC_000014.8:g.23896927G>T	(Likely) benign	2 labs	10e3c4b4b0
3:43607224 ANO10 CA>C	3	43607224	43607242	CA	C	ANO10	c.1219-6del	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607242del	(Likely) benign	2 labs	10e775024a
3:93762085 ARL13B G>A	3	93762085	93762085	G	A	ARL13B	c.979+1G>A	NM_001321328.2	NP_001308257.1:p.?	NC_000003.11:g.93762085G>A	(Likely) pathogenic	2 labs	10e9f4ea95
18:59739962 PIGN TA>T	18	59739962	59739975	TA	T	PIGN	c.2620-5del	NM_012327.6	NP_036459.1:p.?	NC_000018.9:g.59739975del	(Likely) benign	3 labs	10f3647e8e
2:179485946 TTN C>T	2	179485946	179485946	C	T	TTN	c.45499G>A	NM_001267550.2	NP_001254479.2:p.(Val15167Ile)	NC_000002.11:g.179485946C>T	(Likely) benign	3 labs	10f37bf115
6:33408605 SYNGAP1 A>G	6	33408605	33408605	A	G	SYNGAP1	c.1776A>G	NM_006772.3	NP_006763.2:p.(Ser592=)	NC_000006.11:g.33408605A>G	(Likely) benign	2 labs	10fc83db40
20:61451332 COL9A3 C>T	20	61451332	61451332	C	T	COL9A3	c.307C>T	NM_001853.4	NP_001844.3:p.(Arg103Trp)	NC_000020.10:g.61451332C>T	(Likely) benign	3 labs	10fd80ff31
17:10432735 MYH2 G>C	17	10432735	10432735	G	C	MYH2	c.3181C>G	NM_001100112.2	NP_001093582.1:p.(Leu1061Val)	NC_000017.10:g.10432735G>C	(Likely) benign	3 labs	10fe4a928e
16:2130325 TSC2 A>G	16	2130325	2130325	A	G	TSC2	c.3557A>G	NM_000548.5	NP_000539.2:p.(Tyr1186Cys)	NC_000016.9:g.2130325A>G	(Likely) benign	2 labs	110c8d135d
4:6293740 WFS1 G>A	4	6293740	6293740	G	A	WFS1	c.712+16G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293740G>A	(Likely) benign	4 labs	111cc03c12
15:48782151 FBN1 G>A	15	48782151	48782151	G	A	FBN1	c.2979C>T	NM_000138.5	NP_000129.3:p.(Cys993=)	NC_000015.9:g.48782151G>A	VUS	2 labs	111fe9739a
16:15818225 MYH11 G>A	16	15818225	15818225	G	A	MYH11	c.4179C>T	NM_001040113.2	NP_001035202.1:p.(Thr1393=)	NC_000016.9:g.15818225G>A	(Likely) benign	4 labs	1127306271
11:95568531 MTMR2 A>G	11	95568531	95568531	A	G	MTMR2	c.1639T>C	NM_001243571.2	NP_001230500.1:p.(Ser547Pro)	NC_000011.9:g.95568531A>G	(Likely) benign	2 labs	112a24cb75
1:150048297 VPS45 C>T	1	150048297	150048297	C	T	VPS45	c.290-14C>T	NM_007259.5	NP_009190.2:p.?	NC_000001.10:g.150048297C>T	(Likely) benign	2 labs	112dab941f
3:136002681 PCCB G>A	3	136002681	136002681	G	A	PCCB	c.606G>A	NM_001178014.2	NP_001171485.1:p.(Arg202=)	NC_000003.11:g.136002681G>A	(Likely) benign	2 labs	112f86bdde
10:112595700 RBM20 C>T	10	112595700	112595700	C	T	RBM20	c.3648C>T	NM_001134363.3	NP_001127835.2:p.(Ser1216=)	NC_000010.10:g.112595700C>T	(Likely) benign	3 labs	115108b6da
1:68915573 RPE65 C>T	1	68915573	68915573	C	T	RPE65	c.11+5G>A	NM_000329.3	NP_000320.1:p.?	NC_000001.10:g.68915573C>T	(Likely) pathogenic	2 labs	1151d2d0af
16:49671761 ZNF423 C>T	16	49671761	49671761	C	T	ZNF423	c.1122G>A	NM_001271620.2	NP_001258549.1:p.(Ala374=)	NC_000016.9:g.49671761C>T	(Likely) benign	2 labs	11520b1dde
2:179442793 TTN G>A	2	179442793	179442793	G	A	TTN	c.60745C>T	NM_133378.4	NP_596869.4:p.(Arg20249Ter)	NC_000002.11:g.179442793G>A	(Likely) pathogenic	2 labs	11525596a0
7:116165162 CAV1 G>A	7	116165162	116165162	G	A	CAV1	c.-761G>A	NM_001172895.1	NP_001166366.1:p.?	NC_000007.13:g.116165162G>A	(Likely) benign	2 labs	115cc75bf1
3:167402161 PDCD10 C>T	3	167402161	167402161	C	T	PDCD10	c.574G>A	NM_007217.4	NP_009148.2:p.(Val192Ile)	NC_000003.11:g.167402161C>T	(Likely) benign	2 labs	116491474a
X:128699795 OCRL G>A	X	128699795	128699795	G	A	OCRL	c.1291G>A	NM_000276.4	NP_000267.2:p.(Asp431Asn)	NC_000023.10:g.128699795G>A	(Likely) benign	2 labs	11685aeedb
2:189872603 COL3A1 C>T	2	189872603	189872603	C	T	COL3A1	c.3364-8C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872603C>T	(Likely) benign	2 labs	1195d05d1c
2:179606288 TTN G>A	2	179606288	179606288	G	A	TTN	c.11672C>T	NM_001267550.2	NP_001254479.2:p.(Thr3891Ile)	NC_000002.11:g.179606288G>A	(Likely) benign	4 labs	119985f10d
5:37183564 CPLANE1 G>A	5	37183564	37183564	G	A	CPLANE1	c.4719C>T	NM_023073.4	NP_075561.3:p.(Asp1573=)	NC_000005.9:g.37183564G>A	(Likely) benign	2 labs	11b5f7bdf3
2:179428546 TTN T>TTACC	2	179428546	179428550	T	TTACC	TTN	c.82309_82312dup	NM_001267550.2	NP_001254479.2:p.(Asn27438ArgfsTer2)	NC_000002.11:g.179428547_179428550dup	(Likely) pathogenic	3 labs	11a5b86fb9
6:49403282 MMUT T>C	6	49403282	49403282	T	C	MMUT	c.2011A>G	NM_000255.4	NP_000246.2:p.(Ile671Val)	NC_000006.11:g.49403282T>C	(Likely) benign	4 labs	11b196f106
3:132407920 NPHP3 G>C	3	132407920	132407920	G	C	NPHP3	c.2881C>G	NM_153240.5	NP_694972.3:p.(Gln961Glu)	NC_000003.11:g.132407920G>C	(Likely) benign	2 labs	11b519c0d7
11:47372932 MYBPC3 G>A	11	47372932	47372932	G	A	MYBPC3	c.150C>T	NM_000256.3	NP_000247.2:p.(Ser50=)	NC_000011.9:g.47372932G>A	(Likely) benign	3 labs	11b608e9ad
3:38988401 SCN11A G>A	3	38988401	38988401	G	A	SCN11A	c.268-3C>T	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38988401G>A	(Likely) benign	5 labs	11bf5d8047
2:179447145 TTN G>A	2	179447145	179447145	G	A	TTN	c.58334C>T	NM_133378.4	NP_596869.4:p.(Thr19445Ile)	NC_000002.11:g.179447145G>A	VUS	2 labs	11c242fb7a
2:179542423 TTN G>T	2	179542423	179542423	G	T	TTN	c.34216C>A	NM_001267550.2	NP_001254479.2:p.(Pro11406Thr)	NC_000002.11:g.179542423G>T	(Likely) benign	3 labs	11e7bec7ae
1:227152778 COQ8A T>G	1	227152778	227152778	T	G	COQ8A	c.255T>G	NM_020247.5	NP_064632.2:p.(His85Gln)	NC_000001.10:g.227152778T>G	(Likely) benign	3 labs	11f8520bcb
8:24813363 NEFL G>A	8	24813363	24813363	G	A	NEFL	c.667C>T	NM_006158.5	NP_006149.2:p.(Leu223=)	NC_000008.10:g.24813363G>A	(Likely) benign	2 labs	11fd9d7e30
18:21124910 NPC1 C>A	18	21124910	21124910	C	A	NPC1	c.1947+14G>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124910C>A	(Likely) benign	2 labs	11ff9c4add
18:29116219 DSG2 A>G	18	29116219	29116219	A	G	DSG2	c.1478A>G	NM_001943.5	NP_001934.2:p.(Asn493Ser)	NC_000018.9:g.29116219A>G	VUS	2 labs	1200e9b610
14:45642287 FANCM A>G	14	45642287	45642287	A	G	FANCM	c.2190A>G	NM_020937.4	NP_065988.1:p.(Gln730=)	NC_000014.8:g.45642287A>G	(Likely) benign	2 labs	1207562236
16:23647238 PALB2 G>A	16	23647238	23647238	G	A	PALB2	c.629C>T	NM_024675.4	NP_078951.2:p.(Pro210Leu)	NC_000016.9:g.23647238G>A	(Likely) benign	4 labs	1208bbe6c4
1:215808051 USH2A A>G	1	215808051	215808051	A	G	USH2A	c.15053-6T>C	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215808051A>G	(Likely) benign	2 labs	120d03a86b
14:102504838 DYNC1H1 C>T	14	102504838	102504838	C	T	DYNC1H1	c.10950C>T	NM_001376.5	NP_001367.2:p.(Asn3650=)	NC_000014.8:g.102504838C>T	(Likely) benign	4 labs	120fdaa434
20:32031298 SNTA1 G>A	20	32031298	32031298	G	A	SNTA1	c.129C>T	NM_003098.3	NP_003089.1:p.(Ser43=)	NC_000020.10:g.32031298G>A	(Likely) benign	2 labs	1210306408
12:33031395 PKP2 G>A	12	33031395	33031395	G	A	PKP2	c.419C>T	NM_004572.4	NP_004563.2:p.(Ser140Phe)	NC_000012.11:g.33031395G>A	(Likely) benign	6 labs	1218badf22
4:628612 PDE6B C>T	4	628612	628612	C	T	PDE6B	c.615C>T	NM_000283.4	NP_000274.3:p.(Asp205=)	NC_000004.11:g.628612C>T	(Likely) benign	2 labs	1220627531
19:35530094 SCN1B C>A	19	35530094	35530094	C	A	SCN1B	c.522C>A	NM_001037.5	NP_001028.1:p.(Leu174=)	NC_000019.9:g.35530094C>A	(Likely) benign	3 labs	123e6cd98a
2:112786034 MERTK C>T	2	112786034	112786034	C	T	MERTK	c.2593C>T	NM_006343.3	NP_006334.2:p.(Arg865Trp)	NC_000002.11:g.112786034C>T	(Likely) benign	2 labs	124b5aeeb3
6:75848261 COL12A1 G>A	6	75848261	75848261	G	A	COL12A1	c.5133C>T	NM_004370.6	NP_004361.3:p.(Phe1711=)	NC_000006.11:g.75848261G>A	(Likely) benign	2 labs	125731c331
7:128488786 FLNC A>G	7	128488786	128488786	A	G	FLNC	c.4737+15A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488786A>G	(Likely) benign	3 labs	12686bfb5a
X:53254071 KDM5C T>C	X	53254071	53254071	T	C	KDM5C	n.319A>G	NR_148672.2		NC_000023.10:g.53254071T>C	(Likely) pathogenic	2 labs	126e37138a
17:36483846 GPR179 T>G	17	36483846	36483846	T	G	GPR179	c.5606A>C	NM_001004334.4	NP_001004334.3:p.(Gln1869Pro)	NC_000017.10:g.36483846T>G	(Likely) benign	2 labs	126e413165
2:227661726 IRS1 C>T	2	227661726	227661726	C	T	IRS1	c.1729G>A	NM_005544.3	NP_005535.1:p.(Val577Met)	NC_000002.11:g.227661726C>T	(Likely) benign	2 labs	127dc4cbd5
2:179596191 TTN C>T	2	179596191	179596191	C	T	TTN	c.17302G>A	NM_001267550.2	NP_001254479.2:p.(Asp5768Asn)	NC_000002.11:g.179596191C>T	VUS	2 labs	127fdd7bca
1:65339122 JAK1 G>A	1	65339122	65339122	G	A	JAK1	c.414C>T	NM_002227.4	NP_002218.2:p.(Tyr138=)	NC_000001.10:g.65339122G>A	(Likely) benign	3 labs	128147be5f
1:100696395 DBT G>A	1	100696395	100696395	G	A	DBT	c.327C>T	NM_001918.5	NP_001909.4:p.(Thr109=)	NC_000001.10:g.100696395G>A	(Likely) benign	3 labs	1284dd9b18
6:152473181 SYNE1 T>C	6	152473181	152473181	T	C	SYNE1	c.24225A>G	NM_182961.4	NP_892006.3:p.(Ala8075=)	NC_000006.11:g.152473181T>C	(Likely) benign	3 labs	12889a1cd1
1:215802319 USH2A C>T	1	215802319	215802319	C	T	USH2A	c.15356G>A	NM_206933.4	NP_996816.3:p.(Arg5119Gln)	NC_000001.10:g.215802319C>T	(Likely) benign	2 labs	1294a929c9
7:128480123 FLNC C>A	7	128480123	128480123	C	A	FLNC	c.1458C>A	NM_001458.5	NP_001449.3:p.(Pro486=)	NC_000007.13:g.128480123C>A	(Likely) benign	3 labs	12aa7a9d5c
19:45855530 ERCC2 G>A	19	45855530	45855530	G	A	ERCC2	c.2127C>T	NM_000400.4	NP_000391.1:p.(Thr709=)	NC_000019.9:g.45855530G>A	(Likely) benign	2 labs	12ad0500de
2:179413951 TTN G>A	2	179413951	179413951	G	A	TTN	c.92402C>T	NM_001267550.2	NP_001254479.2:p.(Ala30801Val)	NC_000002.11:g.179413951G>A	VUS	2 labs	12b468534c
16:1613994 IFT140 G>A	16	1613994	1613994	G	A	IFT140	c.2067+4C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1613994G>A	(Likely) benign	2 labs	12b5c303cd
X:48385586 EBP C>T	X	48385586	48385586	C	T	EBP	c.382C>T	NM_006579.3	NP_006570.1:p.(Leu128=)	NC_000023.10:g.48385586C>T	(Likely) benign	3 labs	12b7401c0d
7:116340086 MET A>G	7	116340086	116340086	A	G	MET	c.948A>G	NM_001127500.3	NP_001120972.1:p.(Ile316Met)	NC_000007.13:g.116340086A>G	(Likely) benign	3 labs	12b938cedc
3:38591914 SCN5A G>A	3	38591914	38591914	G	A	SCN5A	c.5949C>T	NM_001099404.2	NP_001092874.1:p.(Ala1983=)	NC_000003.11:g.38591914G>A	(Likely) benign	2 labs	12ba09466d
16:72139172 DHX38 G>A	16	72139172	72139172	G	A	DHX38	c.2304G>A	NM_014003.4	NP_054722.2:p.(Glu768=)	NC_000016.9:g.72139172G>A	(Likely) benign	2 labs	12c695667e
11:6647481 DCHS1 G>A	11	6647481	6647481	G	A	DCHS1	c.6495C>T	NM_003737.4	NP_003728.1:p.(Asn2165=)	NC_000011.9:g.6647481G>A	(Likely) benign	2 labs	12d99c4b4a
20:10620516 JAG1 C>T	20	10620516	10620516	C	T	JAG1	c.3287G>A	NM_000214.3	NP_000205.1:p.(Arg1096Gln)	NC_000020.10:g.10620516C>T	VUS	2 labs	12dff8a622
4:114209630 ANK2 C>T	4	114209630	114209630	C	T	ANK2	c.2265C>T	NM_001148.6	NP_001139.3:p.(Asn755=)	NC_000004.11:g.114209630C>T	(Likely) benign	2 labs	12e434e0e1
16:15834012 MYH11 C>A	16	15834012	15834012	C	A	MYH11	c.2914G>T	NM_001040113.2	NP_001035202.1:p.(Ala972Ser)	NC_000016.9:g.15834012C>A	(Likely) benign	2 labs	12ed2e0435
1:40769584 COL9A2 T>C	1	40769584	40769584	T	C	COL9A2	c.1368+16A>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769584T>C	(Likely) benign	2 labs	12f71905f2
14:50655338 SOS2 T>C	14	50655338	50655338	T	C	SOS2	c.591A>G	NM_006939.4	NP_008870.2:p.(Leu197=)	NC_000014.8:g.50655338T>C	(Likely) benign	2 labs	1308487930
3:38962702 SCN11A G>A	3	38962702	38962702	G	A	SCN11A	c.757C>T	NM_014139.3	NP_054858.2:p.(Leu253=)	NC_000003.11:g.38962702G>A	(Likely) benign	2 labs	1314fec0bd
8:7829539 USP17L8 G>A	8	7829539	7829539	G	A	USP17L8	c.1237C>T	NM_001256872.1	NP_001243801.1:p.(Pro413Ser)	NC_000008.10:g.7829539G>A	(Likely) benign	2 labs	131870629c
2:179408940 TTN C>T	2	179408940	179408940	C	T	TTN	c.96016G>A	NM_001267550.2	NP_001254479.2:p.(Val32006Met)	NC_000002.11:g.179408940C>T	(Likely) benign	4 labs	132a297ac4
19:49703574 TRPM4 AC>A	19	49703574	49703576	AC	A	TRPM4	c.2665del	NM_017636.4	NP_060106.2:p.(His889ThrfsTer35)	NC_000019.9:g.49703576del	VUS	2 labs	132d7df5f3
9:107546681 ABCA1 G>A	9	107546681	107546681	G	A	ABCA1	c.6701C>T	NM_005502.4	NP_005493.2:p.(Ser2234Leu)	NC_000009.11:g.107546681G>A	VUS	2 labs	133a3dc5ea
11:108163323 ATM G>GT	11	108163323	108163332	G	GT	ATM	c.4437-14dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108163332dup	(Likely) benign	4 labs	133bab30bd
1:235922671 LYST T>G	1	235922671	235922671	T	G	LYST	c.6482A>C	NM_001301365.1	NP_001288294.1:p.(Glu2161Ala)	NC_000001.10:g.235922671T>G	(Likely) benign	4 labs	134b6de9b1
6:75899415 COL12A1 C>G	6	75899415	75899415	C	G	COL12A1	c.511G>C	NM_004370.6	NP_004361.3:p.(Asp171His)	NC_000006.11:g.75899415C>G	VUS	2 labs	1356a986b2
11:108106435 ATM A>G	11	108106435	108106435	A	G	ATM	c.370A>G	NM_000051.4	NP_000042.3:p.(Ile124Val)	NC_000011.9:g.108106435A>G	(Likely) benign	4 labs	135e4129b4
11:123516316 SCN3B G>A	11	123516316	123516316	G	A	SCN3B	c.198C>T	NM_018400.4	NP_060870.1:p.(Pro66=)	NC_000011.9:g.123516316G>A	(Likely) benign	2 labs	13603e5d41
6:36262166 PNPLA1 C>T	6	36262166	36262166	C	T	PNPLA1	c.704C>T	NM_001145717.1	NP_001139189.2:p.(Pro235Leu)	NC_000006.11:g.36262166C>T	(Likely) pathogenic	2 labs	13622b7ed8
20:25275621 ABHD12 T>C	20	25275621	25275621	T	C	ABHD12	c.1203A>G	NM_015600.5	NP_056415.1:p.(Ser401=)	NC_000020.10:g.25275621T>C	(Likely) benign	2 labs	1366b16ad0
1:176679311 PAPPA2 T>C	1	176679311	176679311	T	C	PAPPA2	c.3650T>C	NM_020318.3	NP_064714.2:p.(Leu1217Pro)	NC_000001.10:g.176679311T>C	(Likely) benign	2 labs	1367efa19d
5:131931451 RAD50 T>TA	5	131931451	131931460	T	TA	RAD50	c.2165dup	NM_005732.4	NP_005723.2:p.(Glu723GlyfsTer5)	NC_000005.9:g.131931460dup	(Likely) pathogenic	2 labs	13635059d3
1:26140412 SELENON G>A	1	26140412	26140412	G	A	SELENON	c.1428G>A	NM_020451.3	NP_065184.2:p.(Ser476=)	NC_000001.10:g.26140412G>A	(Likely) benign	2 labs	1368d1e68a
3:38889104 SCN11A A>G	3	38889104	38889104	A	G	SCN11A	c.4457T>C	NM_001349253.2	NP_001336182.1:p.(Leu1486Pro)	NC_000003.11:g.38889104A>G	VUS	3 labs	1375a48f38
2:47202234 TTC7A T>C	2	47202234	47202234	T	C	TTC7A	c.640T>C	NM_020458.4	NP_065191.2:p.(Leu214=)	NC_000002.11:g.47202234T>C	(Likely) benign	2 labs	13771f4fa7
3:129249849 RHO G>A	3	129249849	129249849	G	A	RHO	c.492G>A	NM_000539.3	NP_000530.1:p.(Ala164=)	NC_000003.11:g.129249849G>A	(Likely) benign	2 labs	137da070e8
16:23652456 PALB2 G>A	16	23652456	23652456	G	A	PALB2	c.23C>T	NM_024675.4	NP_078951.2:p.(Pro8Leu)	NC_000016.9:g.23652456G>A	(Likely) benign	2 labs	138cb82c60
2:179474668 TTN G>A	2	179474668	179474668	G	A	TTN	c.51482C>T	NM_001267550.2	NP_001254479.2:p.(Ala17161Val)	NC_000002.11:g.179474668G>A	(Likely) benign	3 labs	13920d91f3
3:38739163 SCN10A G>A	3	38739163	38739163	G	A	SCN10A	c.5548C>T	NM_006514.4	NP_006505.4:p.(Gln1850Ter)	NC_000003.11:g.38739163G>A	VUS	2 labs	1395b56e2f
14:23883233 MYH7 G>A	14	23883233	23883233	G	A	MYH7	c.5638C>T	NM_000257.4	NP_000248.2:p.(Arg1880Cys)	NC_000014.8:g.23883233G>A	VUS	2 labs	13a6e5963b
16:89346103 ANKRD11 G>A	16	89346103	89346103	G	A	ANKRD11	c.6847C>T	NM_001256182.2	NP_001243111.1:p.(Gln2283Ter)	NC_000016.9:g.89346103G>A	(Likely) pathogenic	2 labs	13b34a712a
2:202580514 ALS2 C>T	2	202580514	202580514	C	T	ALS2	c.3885G>A	NM_020919.4	NP_065970.2:p.(Ala1295=)	NC_000002.11:g.202580514C>T	(Likely) benign	4 labs	13c2a271a0
2:179467330 TTN GA>G	2	179467330	179467340	GA	G	TTN	c.54812-14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467340del	(Likely) benign	2 labs	13c6e99701
8:59409493 CYP7A1 G>A	8	59409493	59409493	G	A	CYP7A1	c.578C>T	NM_000780.4	NP_000771.2:p.(Thr193Ile)	NC_000008.10:g.59409493G>A	(Likely) benign	2 labs	13c0ad20fb
12:33003706 PKP2 T>C	12	33003706	33003706	T	C	PKP2	c.1372A>G	NM_004572.4	NP_004563.2:p.(Ile458Val)	NC_000012.11:g.33003706T>C	(Likely) benign	5 labs	13c8497fa3
11:116708095 APOA1 A>G	11	116708095	116708095	A	G	APOA1	c.9T>C	NM_001318017.2	NP_001304946.1:p.(Ala3=)	NC_000011.9:g.116708095A>G	(Likely) benign	2 labs	13d33f1510
10:88446811 LDB3 G>A	10	88446811	88446811	G	A	LDB3	c.690-15G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88446811G>A	(Likely) benign	3 labs	13dcb4db3e
X:119581846 LAMP2 C>T	X	119581846	119581846	C	T	LAMP2	c.591G>A	NM_002294.3	NP_002285.1:p.(Val197=)	NC_000023.10:g.119581846C>T	(Likely) benign	3 labs	13deef0d01
11:47368587 MYBPC3 C>A	11	47368587	47368587	C	A	MYBPC3	c.906-7G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368587C>A	(Likely) benign	4 labs	13dffff628
7:112101907 IFRD1 ATT>A	7	112101907	112101918	ATT	A	IFRD1	c.568-4_568-3del	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101917_112101918del	(Likely) benign	2 labs	13e7ead999
6:112460365 LAMA4 C>T	6	112460365	112460365	C	T	LAMA4	c.3239G>A	NM_001105206.3	NP_001098676.2:p.(Arg1080Gln)	NC_000006.11:g.112460365C>T	(Likely) benign	5 labs	13f6315290
7:16317859 CRPPA T>TA	7	16317859	16317870	T	TA	CRPPA	c.836-9dup	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16317870dup	(Likely) benign	2 labs	140c6ac8c8
18:10705481 PIEZO2 T>C	18	10705481	10705481	T	C	PIEZO2	c.5513A>G	NM_022068.4	NP_071351.2:p.(Glu1838Gly)	NC_000018.9:g.10705481T>C	VUS	2 labs	140f668697
16:2138546 TSC2 G>A	16	2138546	2138546	G	A	TSC2				NC_000016.9:g.2138546G>A	(Likely) benign	2 labs	1412a640e2
1:103469989 COL11A1 A>G	1	103469989	103469989	A	G	COL11A1	c.1980+11T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103469989A>G	(Likely) benign	3 labs	141df8e436
2:179434376 TTN C>T	2	179434376	179434376	C	T	TTN	c.76483G>A	NM_001267550.2	NP_001254479.2:p.(Val25495Ile)	NC_000002.11:g.179434376C>T	(Likely) benign	2 labs	1420ec9a98
11:76903245 MYO7A C>A	11	76903245	76903245	C	A	MYO7A	c.4074C>A	NM_000260.4	NP_000251.3:p.(Ser1358=)	NC_000011.9:g.76903245C>A	(Likely) benign	2 labs	142182e4fa
5:94826735 SKIC3 G>C	5	94826735	94826735	G	C	SKIC3	c.3808C>G	NM_014639.4	NP_055454.1:p.(Pro1270Ala)	NC_000005.9:g.94826735G>C	VUS	3 labs	1429d20c01
3:52485879 TNNC1 G>A	3	52485879	52485879	G	A	TNNC1	c.203-5C>T	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52485879G>A	(Likely) benign	2 labs	142ddfd519
8:100568663 VPS13B T>C	8	100568663	100568663	T	C	VPS13B	c.4821-15T>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100568663T>C	(Likely) benign	2 labs	142ebd6106
X:13769452 OFD1 G>A	X	13769452	13769452	G	A	OFD1	c.600G>A	NM_001330210.2	NP_001317139.1:p.(Glu200=)	NC_000023.10:g.13769452G>A	(Likely) benign	2 labs	142f70e07f
19:50909471 POLD1 C>T	19	50909471	50909471	C	T	POLD1	c.1275C>T	NM_001256849.1	NP_001243778.1:p.(Ala425=)	NC_000019.9:g.50909471C>T	(Likely) benign	4 labs	143031290a
X:47062057 UBA1 A>C	X	47062057	47062057	A	C	UBA1	c.1077A>C	NM_003334.4	NP_003325.2:p.(Val359=)	NC_000023.10:g.47062057A>C	(Likely) benign	2 labs	143ad67d95
X:48935284 WDR45 C>A	X	48935284	48935284	C	A	WDR45	c.235+18G>T	NM_007075.4	NP_009006.2:p.?	NC_000023.10:g.48935284C>A	(Likely) benign	3 labs	1446479b9e
3:78655877 ROBO1 G>A	3	78655877	78655877	G	A	ROBO1	c.4609+6C>T	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78655877G>A	(Likely) benign	3 labs	1446806229
19:38955363 RYR1 G>T	19	38955363	38955363	G	T	RYR1	c.2870+1G>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38955363G>T	(Likely) pathogenic	3 labs	1459307df9
2:21230828 APOB T>G	2	21230828	21230828	T	G	APOB	c.8912A>C	NM_000384.3	NP_000375.3:p.(Asn2971Thr)	NC_000002.11:g.21230828T>G	(Likely) benign	2 labs	14505ab1da
5:112175995 APC T>C	5	112175995	112175995	T	C	APC	c.4704T>C	NM_000038.6	NP_000029.2:p.(Asp1568=)	NC_000005.9:g.112175995T>C	(Likely) benign	2 labs	145a0b638f
11:2906090 CDKN1C GGGGGCCGGGGCC>G	11	2906090	2906119	GGGGGCCGGGGCC	G	CDKN1C	c.618_629del	NM_000076.2	NP_000067.1:p.(Ala213_Pro216del)	NC_000011.9:g.2906108_2906119del	(Likely) benign	4 labs	146c4fd4a6
12:2614070 CACNA1C G>T	12	2614070	2614070	G	T	CACNA1C	c.1176G>T	NM_199460.4	NP_955630.3:p.(Gly392=)	NC_000012.11:g.2614070G>T	(Likely) benign	2 labs	14710c76f7
1:2160390 SKI C>G	1	2160390	2160390	C	G	SKI	c.185C>G	NM_003036.4	NP_003027.1:p.(Ala62Gly)	NC_000001.10:g.2160390C>G	(Likely) benign	3 labs	1474b41ff2
5:127647083 FBN2 G>A	5	127647083	127647083	G	A	FBN2	c.4983C>T	NM_001999.4	NP_001990.2:p.(Cys1661=)	NC_000005.9:g.127647083G>A	(Likely) benign	4 labs	147eede1f4
15:52609229 MYO5A G>A	15	52609229	52609229	G	A	MYO5A	c.5334+16C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52609229G>A	(Likely) benign	2 labs	1483e53034
10:69299327 CTNNA3 C>T	10	69299327	69299327	C	T	CTNNA3	c.393G>A	NM_013266.4	NP_037398.2:p.(Ala131=)	NC_000010.10:g.69299327C>T	(Likely) benign	3 labs	148e3b1014
1:112329551 KCND3 G>T	1	112329551	112329551	G	T	KCND3	c.1269+15C>A	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112329551G>T	(Likely) benign	2 labs	148fd5c9c5
2:189898846 COL5A2 C>T	2	189898846	189898846	C	T	COL5A2	c.4450G>A	NM_000393.5	NP_000384.2:p.(Gly1484Ser)	NC_000002.11:g.189898846C>T	(Likely) benign	3 labs	14975b45ec
1:53676924 CPT2 T>C	1	53676924	53676924	T	C	CPT2	c.1576+2T>C	NM_001330589.2	NP_001317518.1:p.?	NC_000001.10:g.53676924T>C	(Likely) benign	3 labs	149789a554
11:121489563 SORL1 G>A	11	121489563	121489563	G	A	SORL1	c.5685G>A	NM_003105.6	NP_003096.2:p.(Lys1895=)	NC_000011.9:g.121489563G>A	(Likely) benign	2 labs	14b6996a93
1:22186350 HSPG2 G>A	1	22186350	22186350	G	A	HSPG2	c.5163C>T	NM_001291860.2	NP_001278789.1:p.(Ser1721=)	NC_000001.10:g.22186350G>A	(Likely) benign	2 labs	14b97b0c2e
11:6651975 DCHS1 C>G	11	6651975	6651975	C	G	DCHS1	c.4050G>C	NM_003737.4	NP_003728.1:p.(Leu1350=)	NC_000011.9:g.6651975C>G	(Likely) benign	2 labs	14bce014aa
5:150946613 FAT2 T>C	5	150946613	150946613	T	C	FAT2	c.1880A>G	NM_001447.3	NP_001438.1:p.(Asn627Ser)	NC_000005.9:g.150946613T>C	(Likely) benign	2 labs	14bd80bc68
12:110232271 TRPV4 C>T	12	110232271	110232271	C	T	TRPV4	c.1354G>A	NM_021625.5	NP_067638.3:p.(Val452Met)	NC_000012.11:g.110232271C>T	VUS	2 labs	14bf979a95
5:254489 SDHA A>G	5	254489	254489	A	G	SDHA	c.1795-19A>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.254489A>G	(Likely) benign	2 labs	14c8f406ee
17:17118517 FLCN G>C	17	17118517	17118517	G	C	FLCN	c.1414C>G	NM_144997.7	NP_659434.2:p.(Pro472Ala)	NC_000017.10:g.17118517G>C	(Likely) benign	2 labs	14cf533894
14:23874459 MYH6 C>T	14	23874459	23874459	C	T	MYH6	c.475G>A	NM_002471.4	NP_002462.2:p.(Asp159Asn)	NC_000014.8:g.23874459C>T	VUS	2 labs	14d09a818f
4:120107248 MYOZ2 C>T	4	120107248	120107248	C	T	MYOZ2	c.688C>T	NM_016599.5	NP_057683.1:p.(Arg230Trp)	NC_000004.11:g.120107248C>T	(Likely) benign	3 labs	14d09fd61b
2:99012734 CNGA3 T>C	2	99012734	99012734	T	C	CNGA3	c.1101T>C	NM_001298.3	NP_001289.1:p.(Gly367=)	NC_000002.11:g.99012734T>C	(Likely) benign	2 labs	14d49131cb
1:240371139 FMN2 C>T	1	240371139	240371139	C	T	FMN2	c.3039C>T	NM_001305424.2	NP_001292353.1:p.(Pro1013=)	NC_000001.10:g.240371139C>T	(Likely) benign	2 labs	14d5c6d129
15:48782196 FBN1 G>C	15	48782196	48782196	G	C	FBN1	c.2934C>G	NM_000138.5	NP_000129.3:p.(Asp978Glu)	NC_000015.9:g.48782196G>C	(Likely) benign	2 labs	14d7555244
6:7567630 DSP A>C	6	7567630	7567630	A	C	DSP	c.1088A>C	NM_004415.4	NP_004406.2:p.(Gln363Pro)	NC_000006.11:g.7567630A>C	VUS	2 labs	14daf20f38
2:167145106 SCN9A C>A	2	167145106	167145106	C	A	SCN9A	c.1155G>T	NM_002977.3	NP_002968.1:p.(Val385=)	NC_000002.11:g.167145106C>A	(Likely) benign	3 labs	14ddc01813
3:78688958 ROBO1 G>A	3	78688958	78688958	G	A	ROBO1	c.2838C>T	NM_133631.4	NP_598334.2:p.(Ser946=)	NC_000003.11:g.78688958G>A	(Likely) benign	2 labs	14e0590196
11:47357427 MYBPC3 C>T	11	47357427	47357427	C	T	MYBPC3	c.2737+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357427C>T	(Likely) pathogenic	3 labs	14e73fcb45
10:13340195 PHYH T>C	10	13340195	13340195	T	C	PHYH	c.126A>G	NM_006214.4	NP_006205.1:p.(Gln42=)	NC_000010.10:g.13340195T>C	(Likely) benign	2 labs	14e8491fce
8:133953676 TG A>G	8	133953676	133953676	A	G	TG	c.5122A>G	NM_003235.5	NP_003226.4:p.(Ile1708Val)	NC_000008.10:g.133953676A>G	(Likely) benign	2 labs	14efb80dac
16:88902199 GALNS G>C	16	88902199	88902199	G	C	GALNS	c.710C>G	NM_001323544.2	NP_001310473.1:p.(Ala237Gly)	NC_000016.9:g.88902199G>C	(Likely) benign	2 labs	14f0b2c97e
6:10557409 GCNT2 T>TC	6	10557409	10557416	T	TC	GCNT2	c.760dup	NM_001491.3	NP_001482.1:p.(His254ProfsTer2)	NC_000006.11:g.10557416dup	(Likely) pathogenic	2 labs	14f34603a5
1:201330453 TNNT2 G>A	1	201330453	201330453	G	A	TNNT2	c.734C>T	NM_001276347.2	NP_001263276.1:p.(Ala245Val)	NC_000001.10:g.201330453G>A	VUS	2 labs	14fb34a94f
20:42744711 JPH2 G>A	20	42744711	42744711	G	A	JPH2	c.1604C>T	NM_020433.5	NP_065166.2:p.(Pro535Leu)	NC_000020.10:g.42744711G>A	VUS	2 labs	15128cc2e2
20:21196268 KIZ G>T	20	21196268	21196268	G	T	KIZ	c.1660G>T	NM_018474.6	NP_060944.3:p.(Ala554Ser)	NC_000020.10:g.21196268G>T	VUS	2 labs	151753126e
7:128480232 FLNC G>C	7	128480232	128480232	G	C	FLNC	c.1549+18G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480232G>C	(Likely) benign	2 labs	15187842fa
11:124766421 ROBO4 G>A	11	124766421	124766421	G	A	ROBO4	c.546C>T	NM_019055.6	NP_061928.4:p.(Pro182=)	NC_000011.9:g.124766421G>A	(Likely) benign	4 labs	151b462f60
18:66348328 TMX3 C>T	18	66348328	66348328	C	T	TMX3	c.925G>A	NM_019022.5	NP_061895.3:p.(Val309Ile)	NC_000018.9:g.66348328C>T	(Likely) benign	2 labs	15230f1e39
12:6954779 GNB3 G>A	12	6954779	6954779	G	A	GNB3	c.729G>A	NM_002075.4	NP_002066.1:p.(Thr243=)	NC_000012.11:g.6954779G>A	(Likely) benign	2 labs	1524de9f6a
13:32911411 BRCA2 G>A	13	32911411	32911411	G	A	BRCA2	c.2919G>A	NM_000059.4	NP_000050.3:p.(Ser973=)	NC_000013.10:g.32911411G>A	(Likely) benign	4 labs	1533d36333
11:66331458 CTSF A>G	11	66331458	66331458	A	G	CTSF	c.1401T>C	NM_003793.4	NP_003784.2:p.(Arg467=)	NC_000011.9:g.66331458A>G	(Likely) benign	2 labs	153e3753f1
4:106359122 PPA2 G>A	4	106359122	106359122	G	A	PPA2	c.513C>T	NM_176869.3	NP_789845.1:p.(Cys171=)	NC_000004.11:g.106359122G>A	(Likely) benign	2 labs	1545b30e35
6:31918080 CFB C>T	6	31918080	31918080	C	T	CFB	c.1524C>T	NM_001710.6	NP_001701.2:p.(His508=)	NC_000006.11:g.31918080C>T	(Likely) benign	4 labs	154a38ace3
6:7579726 DSP C>T	6	7579726	7579726	C	T	DSP	c.3303C>T	NM_004415.4	NP_004406.2:p.(Tyr1101=)	NC_000006.11:g.7579726C>T	(Likely) benign	4 labs	1560404c55
10:88439193 LDB3 G>A	10	88439193	88439193	G	A	LDB3	c.163G>A	NM_001171610.2	NP_001165081.1:p.(Val55Ile)	NC_000010.10:g.88439193G>A	(Likely) benign	5 labs	15674858bf
18:19321724 MIB1 C>T	18	19321724	19321724	C	T	MIB1	c.180C>T	NM_020774.4	NP_065825.1:p.(Tyr60=)	NC_000018.9:g.19321724C>T	(Likely) benign	2 labs	15722d7fc4
1:211843629 NEK2 G>A	1	211843629	211843629	G	A	NEK2	c.759C>T	NM_002497.4	NP_002488.1:p.(Asn253=)	NC_000001.10:g.211843629G>A	(Likely) benign	2 labs	157388f52a
16:56544843 BBS2 A>G	16	56544843	56544843	A	G	BBS2	c.472-10T>C	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56544843A>G	(Likely) benign	3 labs	157cc502da
8:10470757 RP1L1 G>A	8	10470757	10470757	G	A	RP1L1	c.851C>T	NM_178857.6	NP_849188.4:p.(Pro284Leu)	NC_000008.10:g.10470757G>A	(Likely) benign	2 labs	1583a804a5
1:43228001 P3H1 G>T	1	43228001	43228001	G	T	P3H1	c.611C>A	NM_022356.4	NP_071751.3:p.(Pro204His)	NC_000001.10:g.43228001G>T	(Likely) benign	2 labs	15876bb81b
2:167055904 SCN9A G>A	2	167055904	167055904	G	A	SCN9A	c.5212C>T	NM_002977.3	NP_002968.1:p.(Leu1738=)	NC_000002.11:g.167055904G>A	(Likely) benign	2 labs	1588cc2b73
5:178772187 ADAMTS2 C>T	5	178772187	178772187	C	T	ADAMTS2	c.139+4G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178772187C>T	(Likely) benign	2 labs	1588cdb128
17:41244127 BRCA1 GACT>G	17	41244127	41244133	GACT	G	BRCA1	c.3418_3420del	NM_007294.4	NP_009225.1:p.(Ser1140del)	NC_000017.10:g.41244131_41244133del	(Likely) benign	2 labs	158ff30f4e
2:172330393 DCAF17 A>G	2	172330393	172330393	A	G	DCAF17	c.999A>G	NM_025000.4	NP_079276.2:p.(Gln333=)	NC_000002.11:g.172330393A>G	(Likely) benign	3 labs	15a56593f7
18:28647999 DSC2 T>TTC	18	28647999	28648002	T	TTC	DSC2	c.2686_2687dup	NM_024422.6	NP_077740.1:p.(Ala897LysfsTer4)	NC_000018.9:g.28648001_28648002dup	(Likely) benign	6 labs	15ac189bdd
13:110804809 COL4A1 G>A	13	110804809	110804809	G	A	COL4A1	c.4800C>T	NM_001845.6	NP_001836.3:p.(Ser1600=)	NC_000013.10:g.110804809G>A	(Likely) benign	3 labs	15a39e581f
2:179447783 TTN C>T	2	179447783	179447783	C	T	TTN	c.65747G>A	NM_001267550.2	NP_001254479.2:p.(Arg21916Gln)	NC_000002.11:g.179447783C>T	(Likely) benign	3 labs	15a980c4b5
9:135145098 SETX T>TA	9	135145098	135145105	T	TA	SETX	c.7200-10dup	NM_001351527.2	NP_001338456.1:p.?	NC_000009.11:g.135145105dup	(Likely) benign	3 labs	15b454d846
13:23914588 SACS G>T	13	23914588	23914588	G	T	SACS	c.3427C>A	NM_014363.6	NP_055178.3:p.(Gln1143Lys)	NC_000013.10:g.23914588G>T	(Likely) benign	2 labs	15b5237ab5
10:71055389 HK1 G>T	10	71055389	71055389	G	T	HK1	c.28G>T	NM_001358263.1	NP_001345192.1:p.(Ala10Ser)	NC_000010.10:g.71055389G>T	(Likely) benign	2 labs	15b8e7eec8
7:44153474 AEBP1 G>A	7	44153474	44153474	G	A	AEBP1	c.3091G>A	NM_001129.5	NP_001120.3:p.(Ala1031Thr)	NC_000007.13:g.44153474G>A	(Likely) benign	2 labs	15c0ad00d4
10:121436728 BAG3 C>CACAG	10	121436728	121436732	C	CACAG	BAG3	c.1663_1666dup	NM_004281.4	NP_004272.2:p.(Ala556AspfsTer17)	NC_000010.10:g.121436729_121436732dup	VUS	2 labs	15e33eeaae
8:10466811 RP1L1 C>A	8	10466811	10466811	C	A	RP1L1	c.4797G>T	NM_178857.6	NP_849188.4:p.(Leu1599=)	NC_000008.10:g.10466811C>A	(Likely) benign	2 labs	15e79ad514
X:135292012 FHL1 CT>C	X	135292012	135292021	CT	C	FHL1	c.689-9del	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292021del	(Likely) benign	2 labs	15f0ae9530
12:2719802 CACNA1C C>T	12	2719802	2719802	C	T	CACNA1C	c.3714C>T	NM_199460.4	NP_955630.3:p.(Ser1238=)	NC_000012.11:g.2719802C>T	(Likely) benign	2 labs	15f753e791
21:47551964 COL6A2 G>A	21	47551964	47551964	G	A	COL6A2	c.2558G>A	NM_001849.4	NP_001840.3:p.(Arg853Gln)	NC_000021.8:g.47551964G>A	(Likely) benign	2 labs	16062d9390
2:179453426 TTN C>T	2	179453426	179453426	C	T	TTN	c.63026G>A	NM_001267550.2	NP_001254479.2:p.(Arg21009Gln)	NC_000002.11:g.179453426C>T	(Likely) benign	5 labs	160706ffc4
1:12056309 MFN2 A>T	1	12056309	12056309	A	T	MFN2	c.408A>T	NM_014874.4	NP_055689.1:p.(Val136=)	NC_000001.10:g.12056309A>T	(Likely) benign	2 labs	1607ee7c81
1:185704025 HMCN1 G>T	1	185704025	185704025	G	T	HMCN1	c.114G>T	NM_031935.3	NP_114141.2:p.(Gly38=)	NC_000001.10:g.185704025G>T	(Likely) benign	2 labs	160f56d34a
11:121367626 SORL1 T>C	11	121367626	121367626	T	C	SORL1	c.807T>C	NM_003105.6	NP_003096.2:p.(His269=)	NC_000011.9:g.121367626T>C	(Likely) benign	2 labs	161ac69da2
15:73617542 HCN4 G>A	15	73617542	73617542	G	A	HCN4	c.1738-6C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617542G>A	(Likely) benign	3 labs	161c2b8520
17:7576911 TP53 G>C	17	7576911	7576911	G	C	TP53	c.935C>G	NM_000546.6	NP_000537.3:p.(Thr312Ser)	NC_000017.10:g.7576911G>C	(Likely) benign	2 labs	1627fa7036
X:100653895 GLA G>A	X	100653895	100653895	G	A	GLA	c.679C>T	NM_000169.3	NP_000160.1:p.(Arg227Ter)	NC_000023.10:g.100653895G>A	(Likely) pathogenic	2 labs	162991321b
11:76834887 CAPN5 C>A	11	76834887	76834887	C	A	CAPN5	c.1894C>A	NM_004055.5	NP_004046.2:p.(Leu632Ile)	NC_000011.9:g.76834887C>A	(Likely) benign	2 labs	162f0fec75
11:121495940 SORL1 G>A	11	121495940	121495940	G	A	SORL1	c.6318G>A	NM_003105.6	NP_003096.2:p.(Gln2106=)	NC_000011.9:g.121495940G>A	(Likely) benign	2 labs	1635e6a6d0
5:127597460 FBN2 T>G	5	127597460	127597460	T	G	FBN2	c.8332A>C	NM_001999.4	NP_001990.2:p.(Lys2778Gln)	NC_000005.9:g.127597460T>G	(Likely) benign	2 labs	1637b5deb9
3:48613128 COL7A1 G>A	3	48613128	48613128	G	A	COL7A1	c.5910C>T	NM_000094.4	NP_000085.1:p.(Phe1970=)	NC_000003.11:g.48613128G>A	(Likely) benign	2 labs	163a15ee7b
17:39919360 JUP C>T	17	39919360	39919360	C	T	JUP	c.1372G>A	NM_001352773.2	NP_001339702.1:p.(Ala458Thr)	NC_000017.10:g.39919360C>T	VUS	2 labs	163a85bf6b
2:179582467 TTN T>C	2	179582467	179582467	T	C	TTN	c.25134A>G	NM_001267550.2	NP_001254479.2:p.(Ala8378=)	NC_000002.11:g.179582467T>C	(Likely) benign	2 labs	163e975223
5:33963788 SLC45A2 A>G	5	33963788	33963788	A	G	SLC45A2	c.888+8T>C	NM_001012509.4	NP_001012527.2:p.?	NC_000005.9:g.33963788A>G	(Likely) benign	2 labs	1649b5f480
20:31996343 SNTA1 G>T	20	31996343	31996343	G	T	SNTA1	c.1488C>A	NM_003098.3	NP_003089.1:p.(Ala496=)	NC_000020.10:g.31996343G>T	(Likely) benign	2 labs	1652bfbf7c
6:112450108 LAMA4 C>T	6	112450108	112450108	C	T	LAMA4	c.4287+16G>A	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112450108C>T	(Likely) benign	2 labs	1665e939e6
14:23902377 MYH7 G>A	14	23902377	23902377	G	A	MYH7	c.261C>T	NM_000257.4	NP_000248.2:p.(Ile87=)	NC_000014.8:g.23902377G>A	(Likely) benign	3 labs	166744c279
2:136872715 CXCR4 G>A	2	136872715	136872715	G	A	CXCR4	c.783C>T	NM_003467.3	NP_003458.1:p.(Ile261=)	NC_000002.11:g.136872715G>A	(Likely) benign	4 labs	166f603171
5:73181913 ARHGEF28 T>C	5	73181913	73181913	T	C	ARHGEF28	c.3294T>C	NM_001080479.3	NP_001073948.2:p.(Ala1098=)	NC_000005.9:g.73181913T>C	(Likely) benign	2 labs	1674cdfbaa
3:45870062 LZTFL1 C>T	3	45870062	45870062	C	T	LZTFL1	c.646G>A	NM_020347.4	NP_065080.1:p.(Ala216Thr)	NC_000003.11:g.45870062C>T	(Likely) benign	2 labs	167a865b08
2:179647603 TTN G>A	2	179647603	179647603	G	A	TTN	c.3030C>T	NM_001267550.2	NP_001254479.2:p.(Ser1010=)	NC_000002.11:g.179647603G>A	(Likely) benign	2 labs	168950dcd6
17:40695951 NAGLU C>T	17	40695951	40695951	C	T	NAGLU	c.1927C>T	NM_000263.4	NP_000254.2:p.(Arg643Cys)	NC_000017.10:g.40695951C>T	(Likely) pathogenic	4 labs	168cc5455c
8:43052825 HGSNAT C>T	8	43052825	43052825	C	T	HGSNAT	c.1553C>T	NM_152419.3	NP_689632.2:p.(Ser518Phe)	NC_000008.10:g.43052825C>T	(Likely) pathogenic	3 labs	168f0d111d
7:100850997 PLOD3 C>T	7	100850997	100850997	C	T	PLOD3	c.1797G>A	NM_001084.5	NP_001075.1:p.(Arg599=)	NC_000007.13:g.100850997C>T	(Likely) benign	2 labs	169810dcfa
2:179498792 TTN A>G	2	179498792	179498792	A	G	TTN	c.42434T>C	NM_001267550.2	NP_001254479.2:p.(Met14145Thr)	NC_000002.11:g.179498792A>G	VUS	2 labs	169f512766
11:76867749 MYO7A C>T	11	76867749	76867749	C	T	MYO7A	c.514C>T	NM_000260.4	NP_000251.3:p.(Leu172=)	NC_000011.9:g.76867749C>T	(Likely) benign	2 labs	16b3042e43
11:118347654 KMT2A A>G	11	118347654	118347654	A	G	KMT2A	c.3291A>G	NM_001197104.2	NP_001184033.1:p.(Pro1097=)	NC_000011.9:g.118347654A>G	(Likely) benign	3 labs	16b7e78bf3
12:57908852 MARS1 G>A	12	57908852	57908852	G	A	MARS1	c.2204+11G>A	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57908852G>A	(Likely) benign	2 labs	16d40d4a1d
1:94526212 ABCA4 G>A	1	94526212	94526212	G	A	ABCA4	c.2041C>T	NM_000350.3	NP_000341.2:p.(Arg681Ter)	NC_000001.10:g.94526212G>A	(Likely) pathogenic	2 labs	16bd96b0b7
15:23892425 MAGEL2 C>T	15	23892425	23892425	C	T	MAGEL2	c.465G>A	NM_019066.5	NP_061939.3:p.(Pro155=)	NC_000015.9:g.23892425C>T	(Likely) benign	2 labs	16c245b193
2:179465822 TTN C>T	2	179465822	179465822	C	T	TTN	c.55809G>A	NM_001267550.2	NP_001254479.2:p.(Pro18603=)	NC_000002.11:g.179465822C>T	(Likely) benign	2 labs	16c5bc0435
11:68201295 LRP5 C>T	11	68201295	68201295	C	T	LRP5	c.3989C>T	NM_002335.4	NP_002326.2:p.(Ala1330Val)	NC_000011.9:g.68201295C>T	(Likely) benign	2 labs	16d559d501
6:75899319 COL12A1 G>T	6	75899319	75899319	G	T	COL12A1	c.607C>A	NM_004370.6	NP_004361.3:p.(Leu203Ile)	NC_000006.11:g.75899319G>T	VUS	2 labs	16df24bfe3
9:136219448 SURF1 C>G	9	136219448	136219448	C	G	SURF1	c.604G>C	NM_003172.4	NP_003163.1:p.(Asp202His)	NC_000009.11:g.136219448C>G	(Likely) benign	2 labs	16e58d59dd
6:32037475 TNXB G>A	6	32037475	32037475	G	A	TNXB	c.5442C>T	NM_019105.8	NP_061978.6:p.(Asp1814=)	NC_000006.11:g.32037475G>A	(Likely) benign	2 labs	16ef404579
2:179596193 TTN C>T	2	179596193	179596193	C	T	TTN	c.17300G>A	NM_001267550.2	NP_001254479.2:p.(Ser5767Asn)	NC_000002.11:g.179596193C>T	(Likely) benign	2 labs	16f551a065
7:143965881 CTAGE8 C>G	7	143965881	143965881	C	G	CTAGE8	c.463G>C	NM_001278507.1	NP_001265436.1:p.(Glu155Gln)	NC_000007.13:g.143965881C>G	(Likely) benign	2 labs	16fde6e346
2:27601160 ZNF513 C>T	2	27601160	27601160	C	T	ZNF513	c.878G>A	NM_144631.6	NP_653232.3:p.(Arg293Gln)	NC_000002.11:g.27601160C>T	(Likely) benign	2 labs	1708ee32a1
2:179647298 TTN G>A	2	179647298	179647298	G	A	TTN	c.3132C>T	NM_001267550.2	NP_001254479.2:p.(Ala1044=)	NC_000002.11:g.179647298G>A	(Likely) benign	2 labs	170efcba05
17:48653409 CACNA1G G>C	17	48653409	48653409	G	C	CACNA1G	c.1646G>C	NM_198377.3	NP_938191.2:p.(Gly549Ala)	NC_000017.10:g.48653409G>C	(Likely) benign	4 labs	1717487125
11:77817997 ALG8 A>G	11	77817997	77817997	A	G	ALG8	c.1039-5T>C	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77817997A>G	(Likely) benign	2 labs	1717b123e3
14:23855584 MYH6 G>A	14	23855584	23855584	G	A	MYH6	c.4899C>T	NM_002471.4	NP_002462.2:p.(His1633=)	NC_000014.8:g.23855584G>A	(Likely) benign	3 labs	1727d4535b
17:59876631 BRIP1 G>A	17	59876631	59876631	G	A	BRIP1	c.1170C>T	NM_032043.3	NP_114432.2:p.(Val390=)	NC_000017.10:g.59876631G>A	(Likely) benign	2 labs	1728d9878b
10:71139822 HK1 C>T	10	71139822	71139822	C	T	HK1	c.1248C>T	NM_001358263.1	NP_001345192.1:p.(Val416=)	NC_000010.10:g.71139822C>T	(Likely) benign	2 labs	173b4c90c6
2:179495573 TTN G>A	2	179495573	179495573	G	A	TTN	c.36408C>T	NM_133378.4	NP_596869.4:p.(His12136=)	NC_000002.11:g.179495573G>A	(Likely) benign	2 labs	175061e288
11:47369211 MYBPC3 C>T	11	47369211	47369211	C	T	MYBPC3	c.842G>A	NM_000256.3	NP_000247.2:p.(Arg281Gln)	NC_000011.9:g.47369211C>T	VUS	2 labs	175187237f
10:68979376 CTNNA3 C>T	10	68979376	68979376	C	T	CTNNA3	c.832G>A	NM_013266.4	NP_037398.2:p.(Asp278Asn)	NC_000010.10:g.68979376C>T	VUS	2 labs	175980e6e6
6:84563879 RIPPLY2 A>T	6	84563879	84563879	A	T	RIPPLY2	c.238A>T	NM_001009994.2	NP_001009994.1:p.(Arg80Ter)	NC_000006.11:g.84563879A>T	(Likely) pathogenic	2 labs	176177549c
7:128477547 FLNC T>C	7	128477547	128477547	T	C	FLNC	c.795T>C	NM_001458.5	NP_001449.3:p.(Gly265=)	NC_000007.13:g.128477547T>C	(Likely) benign	2 labs	176d8250ff
7:91726527 AKAP9 G>C	7	91726527	91726527	G	C	AKAP9	c.10254G>C	NM_005751.5	NP_005742.4:p.(Gln3418His)	NC_000007.13:g.91726527G>C	(Likely) benign	2 labs	17719b837b
3:37067099 MLH1 A>T	3	37067099	37067099	A	T	MLH1	c.1039-29A>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067099A>T	(Likely) benign	2 labs	1771f6455d
2:96952155 SNRNP200 G>C	2	96952155	96952155	G	C	SNRNP200	c.3897C>G	NM_014014.5	NP_054733.2:p.(Thr1299=)	NC_000002.11:g.96952155G>C	(Likely) benign	2 labs	177b5a9783
X:85128186 CHM C>A	X	85128186	85128186	C	A	CHM	c.1197G>T	NM_001362517.1	NP_001349446.1:p.(Leu399=)	NC_000023.10:g.85128186C>A	(Likely) benign	2 labs	177c504051
8:10480439 RP1L1 G>A	8	10480439	10480439	G	A	RP1L1	c.273C>T	NM_178857.6	NP_849188.4:p.(Ser91=)	NC_000008.10:g.10480439G>A	(Likely) benign	2 labs	177c801b41
2:179605062 TTN C>CT	2	179605062	179605064	C	CT	TTN	c.12897dup	NM_001267550.2	NP_001254479.2:p.(Gly4300ArgfsTer3)	NC_000002.11:g.179605064dup	(Likely) pathogenic	2 labs	177d9f2577
1:5927943 NPHP4 G>A	1	5927943	5927943	G	A	NPHP4	c.3329C>T	NM_015102.5	NP_055917.1:p.(Ala1110Val)	NC_000001.10:g.5927943G>A	(Likely) benign	4 labs	1785f4b4b6
10:69908157 MYPN T>C	10	69908157	69908157	T	C	MYPN	c.296T>C	NM_001256268.2	NP_001243197.1:p.(Val99Ala)	NC_000010.10:g.69908157T>C	(Likely) benign	2 labs	1790bcfa81
8:11666218 FDFT1 GTCCCAC>G	8	11666218	11666257	GTCCCAC	G	FDFT1	c.226_231del	NM_001287750.2	NP_001274679.1:p.(His76_Ser77del)	NC_000008.10:g.11666252_11666257del	(Likely) benign	2 labs	179c35d5bb
11:6652618 DCHS1 C>T	11	6652618	6652618	C	T	DCHS1	c.3696G>A	NM_003737.4	NP_003728.1:p.(Pro1232=)	NC_000011.9:g.6652618C>T	(Likely) benign	2 labs	17a1728b4e
5:180046737 FLT4 C>G	5	180046737	180046737	C	G	FLT4	c.2575G>C	NM_182925.5	NP_891555.2:p.(Val859Leu)	NC_000005.9:g.180046737C>G	(Likely) pathogenic	2 labs	17a825f816
X:107976863 IRS4 T>C	X	107976863	107976863	T	C	IRS4	c.2712A>G	NM_003604.2	NP_003595.1:p.(Lys904=)	NC_000023.10:g.107976863T>C	(Likely) benign	2 labs	17ba2d6ce1
5:157159971 THG1L A>T	5	157159971	157159971	A	T	THG1L	c.101A>T	NM_001317826.2	NP_001304755.1:p.(Asp34Val)	NC_000005.9:g.157159971A>T	VUS	2 labs	17bdb5b781
12:33049514 PKP2 ACTGT>A	12	33049514	33049521	ACTGT	A	PKP2	c.148_151del	NM_004572.4	NP_004563.2:p.(Thr50SerfsTer61)	NC_000012.11:g.33049518_33049521del	(Likely) pathogenic	3 labs	17d5ab1138
1:94508432 ABCA4 C>T	1	94508432	94508432	C	T	ABCA4	c.3213G>A	NM_000350.3	NP_000341.2:p.(Ser1071=)	NC_000001.10:g.94508432C>T	(Likely) benign	2 labs	17eb8202bd
2:179449091 TTN C>T	2	179449091	179449091	C	T	TTN	c.65187G>A	NM_001267550.2	NP_001254479.2:p.(Glu21729=)	NC_000002.11:g.179449091C>T	(Likely) benign	2 labs	17ec991609
10:92678748 ANKRD1 A>AAT	10	92678748	92678773	A	AAT	ANKRD1	c.346-21_346-20dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678772_92678773dup	(Likely) benign	2 labs	17f287826a
10:112540591 RBM20 C>T	10	112540591	112540591	C	T	RBM20	c.224C>T	NM_001134363.3	NP_001127835.2:p.(Ser75Leu)	NC_000010.10:g.112540591C>T	VUS	2 labs	17f31eff77
20:42747186 JPH2 C>T	20	42747186	42747186	C	T	JPH2	c.1247G>A	NM_020433.5	NP_065166.2:p.(Arg416His)	NC_000020.10:g.42747186C>T	VUS	2 labs	18023c6b11
12:2675758 CACNA1C G>A	12	2675758	2675758	G	A	CACNA1C	c.1669+10G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2675758G>A	(Likely) benign	2 labs	181fd01d94
18:34191909 FHOD3 T>C	18	34191909	34191909	T	C	FHOD3	c.814-6T>C	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34191909T>C	(Likely) benign	2 labs	1820eb9308
2:170151227 LRP2 TAA>T	2	170151227	170151250	TAA	T	LRP2	c.428-9_428-8del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170151249_170151250del	(Likely) benign	2 labs	18298637bd
1:235938388 LYST T>TAA	1	235938388	235938399	T	TAA	LYST	c.5461-4_5461-3dup	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235938398_235938399dup	(Likely) benign	2 labs	182f5f88b9
1:168105496 GPR161 T>A	1	168105496	168105496	T	A	GPR161	c.139A>T	NM_001267613.1	NP_001254542.1:p.(Ser47Cys)	NC_000001.10:g.168105496T>A	(Likely) benign	2 labs	183518273d
15:44955670 SPG11 G>A	15	44955670	44955670	G	A	SPG11	c.176C>T	NM_025137.4	NP_079413.3:p.(Ala59Val)	NC_000015.9:g.44955670G>A	(Likely) benign	2 labs	183b18fdfd
2:179614947 TTN T>C	2	179614947	179614947	T	C	TTN	c.12180A>G	NM_133379.5	NP_596870.2:p.(Ala4060=)	NC_000002.11:g.179614947T>C	(Likely) benign	2 labs	184333331a
2:179585257 TTN G>C	2	179585257	179585257	G	C	TTN	c.23232C>G	NM_001267550.2	NP_001254479.2:p.(Asn7744Lys)	NC_000002.11:g.179585257G>C	(Likely) benign	5 labs	184379c8fa
2:241679524 KIF1A A>G	2	241679524	241679524	A	G	KIF1A	c.3852T>C	NM_001244008.2	NP_001230937.1:p.(His1284=)	NC_000002.11:g.241679524A>G	(Likely) benign	3 labs	1859267502
20:10625774 JAG1 G>A	20	10625774	10625774	G	A	JAG1	c.2227+17C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625774G>A	(Likely) benign	3 labs	18684e5a79
1:186072727 HMCN1 G>A	1	186072727	186072727	G	A	HMCN1	c.10697G>A	NM_031935.3	NP_114141.2:p.(Gly3566Asp)	NC_000001.10:g.186072727G>A	(Likely) benign	2 labs	18777fbd1c
3:12650270 RAF1 T>C	3	12650270	12650270	T	C	RAF1	c.576A>G	NM_002880.4	NP_002871.1:p.(Gln192=)	NC_000003.11:g.12650270T>C	(Likely) benign	3 labs	187df2b104
13:111156202 COL4A2 G>A	13	111156202	111156202	G	A	COL4A2	c.4147G>A	NM_001846.4	NP_001837.2:p.(Gly1383Arg)	NC_000013.10:g.111156202G>A	(Likely) pathogenic	2 labs	1897b1d3bd
X:2871204 ARSL C>A	X	2871204	2871204	C	A	ARSL	c.410G>T	NM_000047.3	NP_000038.2:p.(Gly137Val)	NC_000023.10:g.2871204C>A	(Likely) pathogenic	2 labs	18a39b7fba
3:38739494 SCN10A G>A	3	38739494	38739494	G	A	SCN10A	c.5217C>T	NM_006514.4	NP_006505.4:p.(Asp1739=)	NC_000003.11:g.38739494G>A	(Likely) benign	2 labs	18aaaa7590
6:56462574 DST A>C	6	56462574	56462574	A	C	DST	c.5802T>G	NM_001144769.5	NP_001138241.1:p.(Thr1934=)	NC_000006.11:g.56462574A>C	(Likely) benign	2 labs	18cd30c4b5
14:64588825 SYNE2 C>A	14	64588825	64588825	C	A	SYNE2	c.13254C>A	NM_182914.3	NP_878918.2:p.(Asn4418Lys)	NC_000014.8:g.64588825C>A	(Likely) benign	2 labs	18d10d6991
X:153608600 EMD A>G	X	153608600	153608600	A	G	EMD	c.272A>G	NM_000117.3	NP_000108.1:p.(Asn91Ser)	NC_000023.10:g.153608600A>G	(Likely) benign	2 labs	18d610df51
17:10541251 MYH3 G>A	17	10541251	10541251	G	A	MYH3	c.3731C>T	NM_002470.4	NP_002461.2:p.(Ala1244Val)	NC_000017.10:g.10541251G>A	(Likely) benign	3 labs	18d78262fe
8:10467628 RP1L1 G>A	8	10467628	10467628	G	A	RP1L1	c.3980C>T	NM_178857.6	NP_849188.4:p.(Thr1327Ile)	NC_000008.10:g.10467628G>A	(Likely) benign	2 labs	18d8f6d344
16:70937808 HYDIN CT>C	16	70937808	70937809	CT	C	HYDIN	c.8675del	NM_001270974.2	NP_001257903.1:p.(Gln2892ArgfsTer3)	NC_000016.9:g.70937809del	(Likely) pathogenic	2 labs	18da527c4b
6:32017959 TNXB G>C	6	32017959	32017959	G	C	TNXB	c.9249C>G	NM_019105.8	NP_061978.6:p.(Gly3083=)	NC_000006.11:g.32017959G>C	(Likely) benign	2 labs	18e59c3a3e
9:135203649 SETX A>G	9	135203649	135203649	A	G	SETX	c.3336T>C	NM_015046.7	NP_055861.3:p.(Ala1112=)	NC_000009.11:g.135203649A>G	(Likely) benign	3 labs	18e621296c
16:1412748 GNPTG C>T	16	1412748	1412748	C	T	GNPTG	c.741+5C>T	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1412748C>T	(Likely) benign	2 labs	18f8c1af47
11:8016013 EIF3F T>G	11	8016013	8016013	T	G	EIF3F	c.694T>G	NM_003754.3	NP_003745.1:p.(Phe232Val)	NC_000011.9:g.8016013T>G	(Likely) pathogenic	4 labs	18fbd5ef08
11:76890930 MYO7A T>C	11	76890930	76890930	T	C	MYO7A	c.2517T>C	NM_000260.4	NP_000251.3:p.(Ala839=)	NC_000011.9:g.76890930T>C	(Likely) benign	2 labs	18ffcad6bb
2:179495027 TTN G>A	2	179495027	179495027	G	A	TTN	c.44222C>T	NM_001267550.2	NP_001254479.2:p.(Thr14741Met)	NC_000002.11:g.179495027G>A	VUS	3 labs	190291d0b9
6:88224164 RARS2 T>C	6	88224164	88224164	T	C	RARS2	c.1704A>G	NM_020320.5	NP_064716.2:p.(Lys568=)	NC_000006.11:g.88224164T>C	(Likely) benign	2 labs	190cc421c9
2:233660846 GIGYF2 G>A	2	233660846	233660846	G	A	GIGYF2	c.1617G>A	NM_001103147.2	NP_001096617.1:p.(Glu539=)	NC_000002.11:g.233660846G>A	(Likely) benign	2 labs	190e4aac7f
18:21148863 NPC1 A>G	18	21148863	21148863	A	G	NPC1	c.387T>C	NM_000271.5	NP_000262.2:p.(Tyr129=)	NC_000018.9:g.21148863A>G	(Likely) benign	3 labs	19150f55d4
X:135292011 FHL1 TC>T	X	135292011	135292012	TC	T	FHL1	c.689-18del	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292012del	(Likely) benign	2 labs	191643558c
11:62383716 B3GAT3 A>C	11	62383716	62383716	A	C	B3GAT3	c.910-4T>G	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383716A>C	(Likely) benign	2 labs	19200367c6
14:76446913 TGFB3 G>A	14	76446913	76446913	G	A	TGFB3	c.324C>T	NM_003239.5	NP_003230.1:p.(Phe108=)	NC_000014.8:g.76446913G>A	(Likely) benign	3 labs	19263ddd3a
X:118603818 SLC25A5 T>G	X	118603818	118603818	T	G	SLC25A5	c.306T>G	NM_001152.5	NP_001143.2:p.(Gly102=)	NC_000023.10:g.118603818T>G	(Likely) benign	2 labs	193d6977f9
19:41123093 LTBP4 A>AG	19	41123093	41123095	A	AG	LTBP4	c.3233_3235=	NM_001042544.1	NP_001036009.1:p.(Gln1078_Gly1079=)	NC_000019.9:g.41123095dup	(Likely) benign	2 labs	1935524fa0
11:117282575 CEP164 C>T	11	117282575	117282575	C	T	CEP164	c.4228C>T	NM_014956.5	NP_055771.4:p.(Gln1410Ter)	NC_000011.9:g.117282575C>T	VUS	4 labs	1947e4b9e7
8:145737863 RECQL4 C>T	8	145737863	145737863	C	T	RECQL4	c.2967G>A	NM_004260.4	NP_004251.4:p.(Met989Ile)	NC_000008.10:g.145737863C>T	(Likely) benign	3 labs	195efef5c8
17:48273737 COL1A1 C>A	17	48273737	48273737	C	A	COL1A1	c.904-9G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273737C>A	(Likely) benign	2 labs	19600909dc
3:123427560 MYLK C>T	3	123427560	123427560	C	T	MYLK	c.2125G>A	NM_053025.4	NP_444253.3:p.(Val709Met)	NC_000003.11:g.123427560C>T	(Likely) benign	2 labs	197a5eebab
5:73218954 ARHGEF28 C>T	5	73218954	73218954	C	T	ARHGEF28	c.4991C>T	NM_001080479.3	NP_001073948.2:p.(Pro1664Leu)	NC_000005.9:g.73218954C>T	(Likely) benign	2 labs	1985c7296e
1:21900146 ALPL C>G	1	21900146	21900146	C	G	ALPL	c.863-12C>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21900146C>G	(Likely) benign	2 labs	1987602d96
1:147380635 GJA8 C>T	1	147380635	147380635	C	T	GJA8	c.553C>T	NM_005267.5	NP_005258.2:p.(Arg185Trp)	NC_000001.10:g.147380635C>T	VUS	2 labs	19a90a42e7
6:112469462 LAMA4 C>T	6	112469462	112469462	C	T	LAMA4	c.2250G>A	NM_001105206.3	NP_001098676.2:p.(Gln750=)	NC_000006.11:g.112469462C>T	(Likely) benign	2 labs	198d5ac1a6
17:41209079 BRCA1 T>TG	17	41209079	41209082	T	TG	BRCA1	c.5266dup	NM_007294.4	NP_009225.1:p.(Gln1756ProfsTer74)	NC_000017.10:g.41209082dup	(Likely) pathogenic	6 labs	198b49ecd9
1:215990450 USH2A G>A	1	215990450	215990450	G	A	USH2A	c.9459C>T	NM_206933.4	NP_996816.3:p.(Cys3153=)	NC_000001.10:g.215990450G>A	(Likely) benign	2 labs	19bab04800
5:110073950 SLC25A46 T>C	5	110073950	110073950	T	C	SLC25A46	c.10+2T>C	NM_001303250.3	NP_001290179.1:p.?	NC_000005.9:g.110073950T>C	VUS	3 labs	19bbe93b43
2:167089976 SCN9A T>C	2	167089976	167089976	T	C	SCN9A	c.3769-4A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089976T>C	(Likely) benign	2 labs	19bd9ca2fa
1:17355094 SDHB C>T	1	17355094	17355094	C	T	SDHB	c.423+1G>A	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17355094C>T	(Likely) pathogenic	3 labs	19cc053903
6:119234579 MCM9 T>C	6	119234579	119234579	T	C	MCM9	c.911A>G	NM_017696.3	NP_060166.2:p.(Asn304Ser)	NC_000006.11:g.119234579T>C	(Likely) benign	2 labs	19cc0be7c9
17:42429444 GRN G>T	17	42429444	42429444	G	T	GRN	c.1241G>T	NM_002087.4	NP_002078.1:p.(Gly414Val)	NC_000017.10:g.42429444G>T	(Likely) benign	2 labs	19cd974118
16:23619331 PALB2 C>T	16	23619331	23619331	C	T	PALB2	c.3204G>A	NM_024675.4	NP_078951.2:p.(Gly1068=)	NC_000016.9:g.23619331C>T	(Likely) benign	2 labs	19d1d1be43
5:112177900 APC T>C	5	112177900	112177900	T	C	APC	c.6609T>C	NM_000038.6	NP_000029.2:p.(Val2203=)	NC_000005.9:g.112177900T>C	(Likely) benign	2 labs	19d54684ce
15:35083378 ACTC1 A>G	15	35083378	35083378	A	G	ACTC1	c.927T>C	NM_005159.5	NP_005150.1:p.(Pro309=)	NC_000015.9:g.35083378A>G	(Likely) benign	4 labs	19d93bb73e
8:10467126 RP1L1 T>C	8	10467126	10467126	T	C	RP1L1	c.4482A>G	NM_178857.6	NP_849188.4:p.(Gln1494=)	NC_000008.10:g.10467126T>C	(Likely) benign	2 labs	19dc381081
15:85360745 ALPK3 G>T	15	85360745	85360745	G	T	ALPK3	c.62G>T	NM_020778.5	NP_065829.4:p.(Gly21Val)	NC_000015.9:g.85360745G>T	VUS	3 labs	19e828e424
19:55668505 TNNI3 G>A	19	55668505	55668505	G	A	TNNI3	c.25-4C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668505G>A	(Likely) benign	3 labs	19e87ce442
4:126398331 FAT4 T>C	4	126398331	126398331	T	C	FAT4	c.12321T>C	NM_001291303.3	NP_001278232.1:p.(Asn4107=)	NC_000004.11:g.126398331T>C	(Likely) benign	2 labs	19e909415d
20:62127325 EEF1A2 C>T	20	62127325	62127325	C	T	EEF1A2	c.208G>A	NM_001958.5	NP_001949.1:p.(Gly70Ser)	NC_000020.10:g.62127325C>T	(Likely) pathogenic	3 labs	19ea334519
22:17669265 ADA2 C>T	22	17669265	17669265	C	T	ADA2	c.1045G>A	NM_001282225.2	NP_001269154.1:p.(Val349Ile)	NC_000022.10:g.17669265C>T	(Likely) benign	4 labs	19ecf6bcad
11:2593279 KCNQ1 C>T	11	2593279	2593279	C	T	KCNQ1	c.720C>T	NM_000218.3	NP_000209.2:p.(His240=)	NC_000011.9:g.2593279C>T	(Likely) benign	3 labs	19ee6ea5ca
X:32404572 DMD T>C	X	32404572	32404572	T	C	DMD	c.4529A>G	NM_004006.3	NP_003997.2:p.(Lys1510Arg)	NC_000023.10:g.32404572T>C	(Likely) benign	2 labs	19f12a7076
11:62469929 BSCL2 C>A	11	62469929	62469929	C	A	BSCL2	c.486+11G>T	NM_001122955.4	NP_001116427.1:p.?	NC_000011.9:g.62469929C>A	(Likely) benign	2 labs	19f79029de
6:135732649 AHI1 T>C	6	135732649	135732649	T	C	AHI1	c.2798A>G	NM_001134831.2	NP_001128303.1:p.(Tyr933Cys)	NC_000006.11:g.135732649T>C	(Likely) benign	2 labs	19fbcdeaaf
2:47703520 MSH2 G>C	2	47703520	47703520	G	C	MSH2	c.2020G>C	NM_000251.3	NP_000242.1:p.(Gly674Arg)	NC_000002.11:g.47703520G>C	(Likely) pathogenic	3 labs	1a0565d4be
5:172660522 NKX2-5 AT>A	5	172660522	172660523	AT	A	NKX2-5	c.335-19del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523del	(Likely) benign	2 labs	1a0f3cdf44
18:28651658 DSC2 G>T	18	28651658	28651658	G	T	DSC2	c.2038C>A	NM_024422.6	NP_077740.1:p.(Arg680Ser)	NC_000018.9:g.28651658G>T	VUS	2 labs	1a10a4bff0
2:21233722 APOB G>A	2	21233722	21233722	G	A	APOB	c.6018C>T	NM_000384.3	NP_000375.3:p.(Gly2006=)	NC_000002.11:g.21233722G>A	(Likely) benign	2 labs	1a10da0dfb
12:133250152 POLE C>T	12	133250152	133250152	C	T	POLE	c.1359+9G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133250152C>T	(Likely) benign	2 labs	1a17c0c49c
7:128482343 FLNC G>A	7	128482343	128482343	G	A	FLNC	c.2180G>A	NM_001458.5	NP_001449.3:p.(Arg727His)	NC_000007.13:g.128482343G>A	(Likely) benign	2 labs	1a1825ce1a
5:149460544 CSF1R G>A	5	149460544	149460544	G	A	CSF1R	c.93C>T	NM_005211.4	NP_005202.2:p.(Val31=)	NC_000005.9:g.149460544G>A	(Likely) benign	2 labs	1a1afec820
17:56294075 MKS1 G>C	17	56294075	56294075	G	C	MKS1	c.213C>G	NM_017777.4	NP_060247.2:p.(Asp71Glu)	NC_000017.10:g.56294075G>C	(Likely) benign	4 labs	1a1ecaef10
11:118374296 KMT2A A>G	11	118374296	118374296	A	G	KMT2A	c.7689A>G	NM_001197104.2	NP_001184033.1:p.(Ser2563=)	NC_000011.9:g.118374296A>G	(Likely) benign	2 labs	1a2912ffb6
14:23888768 MYH7 G>A	14	23888768	23888768	G	A	MYH7	c.3777C>T	NM_000257.4	NP_000248.2:p.(His1259=)	NC_000014.8:g.23888768G>A	(Likely) benign	2 labs	1a2998fb0b
14:23863536 MYH6 G>T	14	23863536	23863536	G	T	MYH6	c.2430-4C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863536G>T	(Likely) benign	2 labs	1a2bfcfd35
8:145622455 CPSF1 C>G	8	145622455	145622455	C	G	CPSF1	c.2559G>C	NM_013291.3	NP_037423.2:p.(Ala853=)	NC_000008.10:g.145622455C>G	(Likely) benign	2 labs	1a43d2de67
20:5283316 PROKR2 G>C	20	5283316	5283316	G	C	PROKR2	c.525C>G	NM_144773.4	NP_658986.1:p.(Ala175=)	NC_000020.10:g.5283316G>C	(Likely) benign	2 labs	1a46ca4fb2
14:23894104 MYH7 G>T	14	23894104	23894104	G	T	MYH7	c.2553C>A	NM_000257.4	NP_000248.2:p.(Ser851=)	NC_000014.8:g.23894104G>T	(Likely) benign	2 labs	1a4a78918f
20:56136474 PCK1 C>T	20	56136474	56136474	C	T	PCK1	c.7C>T	NM_002591.4	NP_002582.3:p.(Pro3Ser)	NC_000020.10:g.56136474C>T	(Likely) benign	2 labs	1a6f249165
X:8503715 ANOS1 C>A	X	8503715	8503715	C	A	ANOS1	c.1759G>T	NM_000216.4	NP_000207.2:p.(Val587Leu)	NC_000023.10:g.8503715C>A	(Likely) benign	4 labs	1a779d51e5
X:123538902 TENM1 C>T	X	123538902	123538902	C	T	TENM1	c.5370G>A	NM_001163278.1	NP_001156750.1:p.(Ser1790=)	NC_000023.10:g.123538902C>T	(Likely) benign	2 labs	1a77e690bd
3:30733044 TGFBR2 T>A	3	30733044	30733044	T	A	TGFBR2	c.1657T>A	NM_003242.6	NP_003233.4:p.(Ser553Thr)	NC_000003.11:g.30733044T>A	(Likely) benign	2 labs	1a802ffb14
11:1774757 CTSD G>T	11	1774757	1774757	G	T	CTSD	c.1215C>A	NM_001909.5	NP_001900.1:p.(Gly405=)	NC_000011.9:g.1774757G>T	(Likely) benign	2 labs	1a8227cfe6
7:128489557 FLNC G>A	7	128489557	128489557	G	A	FLNC	c.5124G>A	NM_001458.5	NP_001449.3:p.(Ala1708=)	NC_000007.13:g.128489557G>A	(Likely) benign	2 labs	1a893a1f8a
14:23861816 MYH6 C>T	14	23861816	23861816	C	T	MYH6	c.3297G>A	NM_002471.4	NP_002462.2:p.(Glu1099=)	NC_000014.8:g.23861816C>T	(Likely) benign	2 labs	1a9adc4d71
9:32542963 TOPORS T>C	9	32542963	32542963	T	C	TOPORS	c.1560A>G	NM_005802.5	NP_005793.2:p.(Gln520=)	NC_000009.11:g.32542963T>C	(Likely) benign	2 labs	1aaf07321a
8:10469289 RP1L1 C>T	8	10469289	10469289	C	T	RP1L1	c.2319G>A	NM_178857.6	NP_849188.4:p.(Pro773=)	NC_000008.10:g.10469289C>T	(Likely) benign	2 labs	1a9eef2be6
18:77475086 CTDP1 C>T	18	77475086	77475086	C	T	CTDP1	c.1626C>T	NM_048368.4	NP_430255.2:p.(Cys542=)	NC_000018.9:g.77475086C>T	(Likely) benign	2 labs	1aa5d30a93
8:100871565 VPS13B GC>G	8	100871565	100871568	GC	G	VPS13B	c.10979del	NM_017890.5	NP_060360.3:p.(Pro3660LeufsTer5)	NC_000008.10:g.100871568del	(Likely) pathogenic	2 labs	1aa8347c75
X:122387282 GRIA3 G>A	X	122387282	122387282	G	A	GRIA3	c.397G>A	NM_000828.5	NP_000819.4:p.(Ala133Thr)	NC_000023.10:g.122387282G>A	(Likely) benign	2 labs	1ab57ff845
8:61765395 CHD7 C>T	8	61765395	61765395	C	T	CHD7	c.6111C>T	NM_017780.4	NP_060250.2:p.(Pro2037=)	NC_000008.10:g.61765395C>T	(Likely) benign	3 labs	1ac3169552
1:216369924 USH2A G>A	1	216369924	216369924	G	A	USH2A	c.4222C>T	NM_206933.4	NP_996816.3:p.(Gln1408Ter)	NC_000001.10:g.216369924G>A	(Likely) pathogenic	2 labs	1ac4ef120b
17:40695462 NAGLU G>A	17	40695462	40695462	G	A	NAGLU	c.1438G>A	NM_000263.4	NP_000254.2:p.(Ala480Thr)	NC_000017.10:g.40695462G>A	(Likely) benign	2 labs	1ad259c0d0
13:32912945 BRCA2 ATAGT>A	13	32912945	32912951	ATAGT	A	BRCA2	c.4456_4459del	NM_000059.4	NP_000050.3:p.(Val1486AsnfsTer5)	NC_000013.10:g.32912948_32912951del	(Likely) pathogenic	2 labs	1ad638a77f
2:73677596 ALMS1 A>C	2	73677596	73677596	A	C	ALMS1	c.3945A>C	NM_015120.4	NP_055935.4:p.(Ser1315=)	NC_000002.11:g.73677596A>C	(Likely) benign	2 labs	1ada444494
2:44066247 ABCG8 G>C	2	44066247	44066247	G	C	ABCG8	c.55G>C	NM_022437.3	NP_071882.1:p.(Asp19His)	NC_000002.11:g.44066247G>C	(Likely) benign	2 labs	1ae4d619dc
2:170344546 BBS5 G>A	2	170344546	170344546	G	A	BBS5	c.308G>A	NM_152384.3	NP_689597.1:p.(Ser103Asn)	NC_000002.11:g.170344546G>A	(Likely) benign	2 labs	1ae5d963f6
4:100512875 MTTP C>G	4	100512875	100512875	C	G	MTTP	c.686C>G	NM_000253.4	NP_000244.2:p.(Ala229Gly)	NC_000004.11:g.100512875C>G	VUS	2 labs	1ae9bdbd2f
19:49661112 TRPM4 G>A	19	49661112	49661112	G	A	TRPM4	c.-12G>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49661112G>A	(Likely) benign	2 labs	1af8cec8b9
12:110252547 TRPV4 G>A	12	110252547	110252547	G	A	TRPV4	c.55C>T	NM_021625.5	NP_067638.3:p.(Pro19Ser)	NC_000012.11:g.110252547G>A	(Likely) benign	4 labs	1b06366dbb
22:50657803 TUBGCP6 G>A	22	50657803	50657803	G	A	TUBGCP6	c.4398C>T	NM_020461.4	NP_065194.3:p.(Ala1466=)	NC_000022.10:g.50657803G>A	(Likely) benign	2 labs	1b0e29b2af
22:36712700 MYH9 G>A	22	36712700	36712700	G	A	MYH9	c.1242C>T	NM_002473.6	NP_002464.1:p.(Ile414=)	NC_000022.10:g.36712700G>A	(Likely) benign	3 labs	1b1b55253f
1:156105043 LMNA G>A	1	156105043	156105043	G	A	LMNA	c.876G>A	NM_170707.4	NP_733821.1:p.(Leu292=)	NC_000001.10:g.156105043G>A	(Likely) benign	3 labs	1b2158a0f8
20:42747247 JPH2 C>T	20	42747247	42747247	C	T	JPH2	c.1186G>A	NM_020433.5	NP_065166.2:p.(Ala396Thr)	NC_000020.10:g.42747247C>T	(Likely) benign	2 labs	1b2249dd07
9:139391762 NOTCH1 G>A	9	139391762	139391762	G	A	NOTCH1	c.6429C>T	NM_017617.5	NP_060087.3:p.(Asn2143=)	NC_000009.11:g.139391762G>A	(Likely) benign	2 labs	1b22f26517
10:69281585 CTNNA3 A>C	10	69281585	69281585	A	C	CTNNA3	c.579+15T>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69281585A>C	(Likely) benign	2 labs	1b2be04071
7:128491390 FLNC A>G	7	128491390	128491390	A	G	FLNC	c.5644A>G	NM_001458.5	NP_001449.3:p.(Ile1882Val)	NC_000007.13:g.128491390A>G	(Likely) benign	4 labs	1b34224c82
22:38373997 SOX10 C>T	22	38373997	38373997	C	T	SOX10	c.574G>A	NM_006941.4	NP_008872.1:p.(Gly192Ser)	NC_000022.10:g.38373997C>T	(Likely) benign	2 labs	1b344d992c
7:87082273 ABCB4 T>C	7	87082273	87082273	T	C	ABCB4	c.523A>G	NM_018849.3	NP_061337.1:p.(Thr175Ala)	NC_000007.13:g.87082273T>C	(Likely) benign	2 labs	1b35f00619
8:145740622 RECQL4 C>T	8	145740622	145740622	C	T	RECQL4	c.1395G>A	NM_004260.4	NP_004251.4:p.(Thr465=)	NC_000008.10:g.145740622C>T	(Likely) benign	2 labs	1b3b432298
3:132408032 NPHP3 G>A	3	132408032	132408032	G	A	NPHP3	c.2769C>T	NM_153240.5	NP_694972.3:p.(Phe923=)	NC_000003.11:g.132408032G>A	(Likely) benign	3 labs	1b40ab5113
13:48807577 ITM2B C>T	13	48807577	48807577	C	T	ITM2B	c.81C>T	NM_021999.5	NP_068839.1:p.(Leu27=)	NC_000013.10:g.48807577C>T	(Likely) benign	3 labs	1b44553789
13:52542680 ATP7B A>G	13	52542680	52542680	A	G	ATP7B	c.1607T>C	NM_000053.4	NP_000044.2:p.(Val536Ala)	NC_000013.10:g.52542680A>G	(Likely) benign	4 labs	1b4f83ef37
17:80050420 FASN C>T	17	80050420	80050420	C	T	FASN	c.940G>A	NM_004104.5	NP_004095.4:p.(Ala314Thr)	NC_000017.10:g.80050420C>T	(Likely) benign	3 labs	1b515a9a6e
X:123480540 SH2D1A C>T	X	123480540	123480540	C	T	SH2D1A	c.48C>T	NM_002351.5	NP_002342.1:p.(Gly16=)	NC_000023.10:g.123480540C>T	(Likely) benign	4 labs	1b57f67ffe
3:132242012 DNAJC13 A>C	3	132242012	132242012	A	C	DNAJC13	c.5855A>C	NM_015268.4	NP_056083.3:p.(Asn1952Thr)	NC_000003.11:g.132242012A>C	(Likely) benign	2 labs	1b5ba6f138
20:57245561 STX16 G>C	20	57245561	57245561	G	C	STX16	c.557-7G>C	NM_001001433.3	NP_001001433.1:p.?	NC_000020.10:g.57245561G>C	(Likely) benign	2 labs	1b65498da8
1:112524974 KCND3 C>T	1	112524974	112524974	C	T	KCND3	c.375G>A	NM_004980.5	NP_004971.2:p.(Pro125=)	NC_000001.10:g.112524974C>T	(Likely) benign	2 labs	1b683fdf80
10:112581692 RBM20 G>A	10	112581692	112581692	G	A	RBM20	c.3315G>A	NM_001134363.3	NP_001127835.2:p.(Pro1105=)	NC_000010.10:g.112581692G>A	(Likely) benign	2 labs	1b6e16bfd1
10:54053546 PRKG1 T>G	10	54053546	54053546	T	G	PRKG1	c.1918-16T>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54053546T>G	(Likely) benign	2 labs	1b72a4abc6
1:43217942 P3H1 T>C	1	43217942	43217942	T	C	P3H1	c.1569+3A>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43217942T>C	(Likely) benign	2 labs	1b73f51318
15:45404774 DUOX2 G>T	15	45404774	45404774	G	T	DUOX2	c.303C>A	NM_014080.5	NP_054799.4:p.(Arg101=)	NC_000015.9:g.45404774G>T	(Likely) benign	2 labs	1b86bd8355
2:179616510 TTN A>G	2	179616510	179616510	A	G	TTN	c.10617T>C	NM_133379.5	NP_596870.2:p.(His3539=)	NC_000002.11:g.179616510A>G	(Likely) benign	2 labs	1b8caf5eb9
3:38793940 SCN10A A>G	3	38793940	38793940	A	G	SCN10A	c.1525T>C	NM_006514.4	NP_006505.4:p.(Ser509Pro)	NC_000003.11:g.38793940A>G	(Likely) benign	2 labs	1ba0203d96
7:91603030 AKAP9 C>A	7	91603030	91603030	C	A	AKAP9	c.54C>A	NM_005751.5	NP_005742.4:p.(Ala18=)	NC_000007.13:g.91603030C>A	(Likely) benign	2 labs	1ba84e4e9f
2:179579092 TTN A>G	2	179579092	179579092	A	G	TTN	c.22677T>C	NM_133378.4	NP_596869.4:p.(Asn7559=)	NC_000002.11:g.179579092A>G	(Likely) benign	3 labs	1baa19767a
5:178580519 ADAMTS2 G>A	5	178580519	178580519	G	A	ADAMTS2	c.1488C>T	NM_014244.5	NP_055059.2:p.(Phe496=)	NC_000005.9:g.178580519G>A	(Likely) benign	2 labs	1baaa434af
19:49705349 TRPM4 C>T	19	49705349	49705349	C	T	TRPM4	c.3082C>T	NM_017636.4	NP_060106.2:p.(Leu1028=)	NC_000019.9:g.49705349C>T	(Likely) benign	2 labs	1bab8b830a
3:172165593 GHSR G>T	3	172165593	172165593	G	T	GHSR	c.611C>A	NM_198407.2	NP_940799.1:p.(Ala204Glu)	NC_000003.11:g.172165593G>T	(Likely) pathogenic	3 labs	1bac420ef5
9:35806544 NPR2 T>C	9	35806544	35806544	T	C	NPR2	c.2519+9T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35806544T>C	(Likely) benign	2 labs	1bae06acfa
7:150645525 KCNH2 G>C	7	150645525	150645525	G	C	KCNH2	c.2692+7C>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645525G>C	(Likely) benign	2 labs	1bb60b2a14
5:178413380 GRM6 G>A	5	178413380	178413380	G	A	GRM6	c.1875C>T	NM_000843.4	NP_000834.2:p.(Tyr625=)	NC_000005.9:g.178413380G>A	(Likely) benign	2 labs	1bbca143f3
14:76437556 TGFB3 C>T	14	76437556	76437556	C	T	TGFB3	c.559G>A	NM_003239.5	NP_003230.1:p.(Gly187Ser)	NC_000014.8:g.76437556C>T	VUS	2 labs	1bc0dbb4dd
12:117691500 NOS1 C>T	12	117691500	117691500	C	T	NOS1	c.2693G>A	NM_001204218.2	NP_001191147.1:p.(Gly898Asp)	NC_000012.11:g.117691500C>T	(Likely) benign	2 labs	1bc52e1d63
2:202593280 ALS2 G>A	2	202593280	202593280	G	A	ALS2	c.2796C>T	NM_020919.4	NP_065970.2:p.(Ser932=)	NC_000002.11:g.202593280G>A	(Likely) benign	3 labs	1bccf788f7
2:179430001 TTN G>A	2	179430001	179430001	G	A	TTN	c.80858C>T	NM_001267550.2	NP_001254479.2:p.(Thr26953Met)	NC_000002.11:g.179430001G>A	(Likely) benign	4 labs	1bd6720238
2:96966788 SNRNP200 T>C	2	96966788	96966788	T	C	SNRNP200	c.578A>G	NM_014014.5	NP_054733.2:p.(Asp193Gly)	NC_000002.11:g.96966788T>C	(Likely) benign	2 labs	1bdda25e5d
9:137622209 COL5A1 C>A	9	137622209	137622209	C	A	COL5A1	c.1052C>A	NM_000093.5	NP_000084.3:p.(Pro351Gln)	NC_000009.11:g.137622209C>A	VUS	2 labs	1be158ff1b
16:89805672 FANCA C>T	16	89805672	89805672	C	T	FANCA	c.4036G>A	NM_000135.4	NP_000126.2:p.(Ala1346Thr)	NC_000016.9:g.89805672C>T	(Likely) benign	4 labs	1beb4b1c43
11:73753268 C2CD3 CAA>C	11	73753268	73753287	CAA	C	C2CD3	c.5496-7_5496-6del	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73753286_73753287del	(Likely) benign	4 labs	1bec6dfaf8
2:179593297 TTN G>A	2	179593297	179593297	G	A	TTN	c.19356C>T	NM_001267550.2	NP_001254479.2:p.(Ser6452=)	NC_000002.11:g.179593297G>A	(Likely) benign	2 labs	1bf845f489
12:2676818 CACNA1C G>A	12	2676818	2676818	G	A	CACNA1C	c.1753G>A	NM_001167623.2	NP_001161095.1:p.(Val585Met)	NC_000012.11:g.2676818G>A	VUS	2 labs	1bf9fd11ac
2:73718040 ALMS1 T>C	2	73718040	73718040	T	C	ALMS1	c.8957T>C	NM_015120.4	NP_055935.4:p.(Phe2986Ser)	NC_000002.11:g.73718040T>C	(Likely) benign	2 labs	1c04249e6a
15:48712949 FBN1 A>G	15	48712949	48712949	A	G	FBN1	c.7754T>C	NM_000138.5	NP_000129.3:p.(Ile2585Thr)	NC_000015.9:g.48712949A>G	(Likely) pathogenic	5 labs	1c0509c8a7
7:73449760 ELN C>A	7	73449760	73449760	C	A	ELN	c.133+16C>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73449760C>A	(Likely) benign	3 labs	1c175b19eb
14:68157137 RDH11 A>C	14	68157137	68157137	A	C	RDH11	c.456T>G	NM_016026.4	NP_057110.3:p.(Gly152=)	NC_000014.8:g.68157137A>C	(Likely) benign	2 labs	1c23025ea0
11:792955 SLC25A22 C>T	11	792955	792955	C	T	SLC25A22	c.327G>A	NM_001191060.2	NP_001177989.1:p.(Ala109=)	NC_000011.9:g.792955C>T	(Likely) benign	2 labs	1c300a58bc
2:179605969 TTN A>G	2	179605969	179605969	A	G	TTN	c.11991T>C	NM_001267550.2	NP_001254479.2:p.(Ile3997=)	NC_000002.11:g.179605969A>G	(Likely) benign	2 labs	1c33eadc29
3:38765064 SCN10A G>A	3	38765064	38765064	G	A	SCN10A	c.3229-20C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38765064G>A	(Likely) benign	2 labs	1c3518b483
7:73457506 ELN C>T	7	73457506	73457506	C	T	ELN	c.427+8C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73457506C>T	(Likely) benign	3 labs	1c37cd92e9
17:10435032 MYH2 G>C	17	10435032	10435032	G	C	MYH2	c.2615C>G	NM_001100112.2	NP_001093582.1:p.(Ser872Ter)	NC_000017.10:g.10435032G>C	(Likely) pathogenic	3 labs	1c475a9c5d
2:179416677 TTN A>G	2	179416677	179416677	A	G	TTN	c.90950T>C	NM_001267550.2	NP_001254479.2:p.(Val30317Ala)	NC_000002.11:g.179416677A>G	VUS	2 labs	1c59344a4d
2:179583254 TTN T>C	2	179583254	179583254	T	C	TTN	c.24579A>G	NM_001267550.2	NP_001254479.2:p.(Thr8193=)	NC_000002.11:g.179583254T>C	(Likely) benign	3 labs	1c72a70ac8
17:44101427 MAPT C>T	17	44101427	44101427	C	T	MAPT	c.1216C>T	NM_005910.6	NP_005901.2:p.(Arg406Trp)	NC_000017.10:g.44101427C>T	(Likely) pathogenic	2 labs	1c77cbbb81
12:89891052 POC1B A>G	12	89891052	89891052	A	G	POC1B	c.168T>C	NM_172240.3	NP_758440.1:p.(Tyr56=)	NC_000012.11:g.89891052A>G	(Likely) benign	2 labs	1c79edea7f
14:64498016 SYNE2 G>A	14	64498016	64498016	G	A	SYNE2	c.7162G>A	NM_182914.3	NP_878918.2:p.(Glu2388Lys)	NC_000014.8:g.64498016G>A	(Likely) benign	3 labs	1c811bab46
14:77493788 IRF2BPL CTGCTGT>C	14	77493788	77493799	CTGCTGT	C	IRF2BPL	c.342_347del	NM_024496.4	NP_078772.1:p.(Gln126_Gln127del)	NC_000014.8:g.77493794_77493799del	(Likely) benign	2 labs	1c8b5f885e
1:6534230 PLEKHG5 T>C	1	6534230	6534230	T	C	PLEKHG5	c.440-6A>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6534230T>C	(Likely) benign	2 labs	1c983fda5d
2:179397368 TTN G>A	2	179397368	179397368	G	A	TTN	c.103974C>T	NM_001267550.2	NP_001254479.2:p.(Ile34658=)	NC_000002.11:g.179397368G>A	(Likely) benign	6 labs	1c994ebd58
5:112179674 APC G>A	5	112179674	112179674	G	A	APC	c.8383G>A	NM_000038.6	NP_000029.2:p.(Ala2795Thr)	NC_000005.9:g.112179674G>A	(Likely) benign	2 labs	1c9c5a55e5
6:110036274 FIG4 T>C	6	110036274	110036274	T	C	FIG4	c.67-7T>C	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110036274T>C	(Likely) benign	3 labs	1ca543c877
12:112036776 ATXN2 C>CTGT	12	112036776	112036779	C	CTGT	ATXN2	c.62_63insACA	NM_002973.4	NP_002964.4:p.(Gln28dup)	NC_000012.11:g.112036778_112036779insTTG	(Likely) benign	2 labs	1cb03dd305
20:32000514 SNTA1 G>A	20	32000514	32000514	G	A	SNTA1	c.776C>T	NM_003098.3	NP_003089.1:p.(Ser259Leu)	NC_000020.10:g.32000514G>A	VUS	2 labs	1cb10bb4d8
3:3186395 TRNT1 G>T	3	3186395	3186395	G	T	TRNT1	c.608+1G>T	NM_001367321.1	NP_001354250.1:p.?	NC_000003.11:g.3186395G>T	(Likely) pathogenic	2 labs	1cb57def3a
19:11224281 LDLR G>A	19	11224281	11224281	G	A	LDLR	c.1429G>A	NM_000527.5	NP_000518.1:p.(Asp477Asn)	NC_000019.9:g.11224281G>A	VUS	2 labs	1cbc170283
4:128878744 MFSD8 T>A	4	128878744	128878744	T	A	MFSD8	c.66A>T	NM_152778.3	NP_689991.1:p.(Glu22Asp)	NC_000004.11:g.128878744T>A	(Likely) benign	3 labs	1cc0ba45f8
2:179604366 TTN T>G	2	179604366	179604366	T	G	TTN	c.13594A>C	NM_001267550.2	NP_001254479.2:p.(Thr4532Pro)	NC_000002.11:g.179604366T>G	(Likely) benign	2 labs	1cc3285ba8
3:38740001 SCN10A C>T	3	38740001	38740001	C	T	SCN10A	c.4710G>A	NM_006514.4	NP_006505.4:p.(Thr1570=)	NC_000003.11:g.38740001C>T	(Likely) benign	2 labs	1ccc5cc15f
15:31330025 TRPM1 G>C	15	31330025	31330025	G	C	TRPM1	c.2511C>G	NM_001252020.2	NP_001238949.1:p.(Gly837=)	NC_000015.9:g.31330025G>C	(Likely) benign	2 labs	1ccf0f8eff
9:130438189 STXBP1 G>A	9	130438189	130438189	G	A	STXBP1	c.1217G>A	NM_001032221.6	NP_001027392.1:p.(Arg406His)	NC_000009.11:g.130438189G>A	(Likely) pathogenic	2 labs	1ce6001b1f
5:179260231 SQSTM1 C>T	5	179260231	179260231	C	T	SQSTM1	c.954C>T	NM_003900.5	NP_003891.1:p.(Ser318=)	NC_000005.9:g.179260231C>T	(Likely) benign	2 labs	1ce9ca8081
13:41373414 SLC25A15 C>T	13	41373414	41373414	C	T	SLC25A15	c.277C>T	NM_014252.4	NP_055067.1:p.(Arg93Trp)	NC_000013.10:g.41373414C>T	VUS	2 labs	1cea8161f5
10:55626587 PCDH15 C>T	10	55626587	55626587	C	T	PCDH15	c.3547G>A	NM_001142771.2	NP_001136243.1:p.(Val1183Ile)	NC_000010.10:g.55626587C>T	(Likely) benign	2 labs	1cf0c6e7bd
11:6651103 DCHS1 C>T	11	6651103	6651103	C	T	DCHS1	c.4835G>A	NM_003737.4	NP_003728.1:p.(Arg1612Gln)	NC_000011.9:g.6651103C>T	(Likely) benign	2 labs	1cf6892d4f
12:992925 WNK1 T>A	12	992925	992925	T	A	WNK1	c.4444-15T>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.992925T>A	(Likely) benign	2 labs	1cf6f9b621
4:106377834 PPA2 A>T	4	106377834	106377834	A	T	PPA2	c.222+4T>A	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106377834A>T	(Likely) benign	4 labs	1d007b25d9
15:85411660 ALPK3 G>A	15	85411660	85411660	G	A	ALPK3	c.5091G>A	NM_020778.5	NP_065829.4:p.(Glu1697=)	NC_000015.9:g.85411660G>A	(Likely) benign	2 labs	1d07eb8ec3
9:101894975 TGFBR1 G>A	9	101894975	101894975	G	A	TGFBR1	c.528G>A	NM_004612.4	NP_004603.1:p.(Thr176=)	NC_000009.11:g.101894975G>A	(Likely) benign	3 labs	1d0e29d1f4
16:15809068 MYH11 G>A	16	15809068	15809068	G	A	MYH11	c.5587C>T	NM_001040113.2	NP_001035202.1:p.(Leu1863=)	NC_000016.9:g.15809068G>A	(Likely) benign	3 labs	1d1adf4e3b
9:4118287 GLIS3 C>G	9	4118287	4118287	C	G	GLIS3	c.1191G>C	NM_001042413.2	NP_001035878.1:p.(Gln397His)	NC_000009.11:g.4118287C>G	(Likely) benign	2 labs	1d36933ff2
2:179535861 TTN T>G	2	179535861	179535861	T	G	TTN	c.35264A>C	NM_001267550.2	NP_001254479.2:p.(Lys11755Thr)	NC_000002.11:g.179535861T>G	(Likely) benign	2 labs	1d3d08f6f0
2:179513971 TTN G>A	2	179513971	179513971	G	A	TTN	c.40057+4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179513971G>A	(Likely) benign	2 labs	1d6fa54ea6
16:66545982 TK2 C>T	16	66545982	66545982	C	T	TK2	c.553-13G>A	NM_001271934.2	NP_001258863.1:p.?	NC_000016.9:g.66545982C>T	(Likely) benign	2 labs	1d4b287f53
17:41226471 BRCA1 G>T	17	41226471	41226471	G	T	BRCA1	c.4552C>A	NM_007294.4	NP_009225.1:p.(Gln1518Lys)	NC_000017.10:g.41226471G>T	(Likely) benign	2 labs	1d4b9b8d62
2:179433127 TTN G>T	2	179433127	179433127	G	T	TTN	c.77732C>A	NM_001267550.2	NP_001254479.2:p.(Ser25911Tyr)	NC_000002.11:g.179433127G>T	VUS	3 labs	1d4e686de3
4:6303907 WFS1 G>GGAC	4	6303907	6303914	G	GGAC	WFS1	c.2390_2392dup	NM_006005.3	NP_005996.2:p.(Asp797dup)	NC_000004.11:g.6303912_6303914dup	(Likely) benign	3 labs	1d5edc6edb
13:103513951 ERCC5 A>G	13	103513951	103513951	A	G	ERCC5	c.767A>G	NM_000123.4	NP_000114.3:p.(Gln256Arg)	NC_000013.10:g.103513951A>G	(Likely) benign	2 labs	1d5f6636c8
X:73641358 SLC16A2 A>AGGCAGC	X	73641358	73641376	A	AGGCAGC	SLC16A2	c.-102_-97dup	NM_006517.5	NP_006508.2:p.?	NC_000023.10:g.73641371_73641376dup	(Likely) benign	3 labs	1d5211a6fd
1:237804238 RYR2 A>G	1	237804238	237804238	A	G	RYR2	c.7157A>G	NM_001035.3	NP_001026.2:p.(Asn2386Ser)	NC_000001.10:g.237804238A>G	VUS	2 labs	1d70428cd7
X:85220593 CHM T>C	X	85220593	85220593	T	C	CHM	c.315-1536A>G	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85220593T>C	(Likely) pathogenic	2 labs	1d771698cf
2:179515989 TTN T>C	2	179515989	179515989	T	C	TTN	c.39606A>G	NM_001267550.2	NP_001254479.2:p.(Pro13202=)	NC_000002.11:g.179515989T>C	(Likely) benign	2 labs	1d7bc3fe12
14:24550448 NRL G>C	14	24550448	24550448	G	C	NRL	c.711C>G	NM_006177.5	NP_006168.1:p.(Leu237=)	NC_000014.8:g.24550448G>C	(Likely) benign	2 labs	1d7ea2f0cc
2:179435333 TTN G>A	2	179435333	179435333	G	A	TTN	c.75526C>T	NM_001267550.2	NP_001254479.2:p.(Arg25176Cys)	NC_000002.11:g.179435333G>A	VUS	3 labs	1d846eec02
1:45795027 MUTYH C>T	1	45795027	45795027	C	T	MUTYH	c.1601G>A	NM_001128425.2	NP_001121897.1:p.(Arg534Gln)	NC_000001.10:g.45795027C>T	(Likely) benign	3 labs	1d90a8f940
15:73614928 HCN4 CCAAA>C	15	73614928	73614936	CCAAA	C	HCN4	c.3502_3505del	NM_005477.3	NP_005468.1:p.(Phe1168GlyfsTer12)	NC_000015.9:g.73614933_73614936del	VUS	3 labs	1d8bdc7a8e
2:21230635 APOB A>G	2	21230635	21230635	A	G	APOB	c.9105T>C	NM_000384.3	NP_000375.3:p.(Asn3035=)	NC_000002.11:g.21230635A>G	(Likely) benign	3 labs	1d91d15ca2
1:112524233 KCND3 G>A	1	112524233	112524233	G	A	KCND3	c.1106+10C>T	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112524233G>A	(Likely) benign	3 labs	1d9454406b
12:32884296 DNM1L C>T	12	32884296	32884296	C	T	DNM1L	c.1246C>T	NM_001278464.2	NP_001265393.1:p.(Arg416Cys)	NC_000012.11:g.32884296C>T	(Likely) pathogenic	2 labs	1d94b8d28d
11:108183299 ATM A>G	11	108183299	108183299	A	G	ATM	c.6006+74A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108183299A>G	(Likely) benign	2 labs	1d9dfff444
8:133900252 TG T>G	8	133900252	133900252	T	G	TG	c.2200T>G	NM_003235.5	NP_003226.4:p.(Ser734Ala)	NC_000008.10:g.133900252T>G	(Likely) benign	2 labs	1da0e77349
4:8869642 HMX1 C>T	4	8869642	8869642	C	T	HMX1	c.824G>A	NM_018942.3	NP_061815.2:p.(Gly275Glu)	NC_000004.11:g.8869642C>T	VUS	2 labs	1da944c6a6
7:130080803 CEP41 G>A	7	130080803	130080803	G	A	CEP41	c.5C>T	NM_018718.3	NP_061188.1:p.(Ser2Phe)	NC_000007.13:g.130080803G>A	VUS	2 labs	1dabbbc822
1:112319899 KCND3 C>A	1	112319899	112319899	C	A	KCND3	c.1519-4G>T	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112319899C>A	(Likely) benign	2 labs	1db5cfdf0a
2:8877136 KIDINS220 A>G	2	8877136	8877136	A	G	KIDINS220	c.3586-7T>C	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8877136A>G	(Likely) benign	4 labs	1db6e6b502
2:73613031 ALMS1 T>TGGAGGAGGAGGA	2	73613031	73613070	T	TGGAGGAGGAGGA	ALMS1	c.69_77dup	NM_015120.4	NP_055935.4:p.(Glu27_Glu29dup)	NC_000002.11:g.73613059_73613070dup	(Likely) benign	4 labs	1dbc44c13f
14:64066367 WDR89 A>T	14	64066367	64066367	A	T	WDR89	c.294T>A	NM_001258272.2	NP_001245201.1:p.(Asp98Glu)	NC_000014.8:g.64066367A>T	(Likely) benign	2 labs	1dc197fae5
15:65369341 KBTBD13 A>T	15	65369341	65369341	A	T	KBTBD13	c.188A>T	NM_001101362.3	NP_001094832.1:p.(Gln63Leu)	NC_000015.9:g.65369341A>T	(Likely) benign	2 labs	1dcbb81fe5
8:55539433 RP1 T>C	8	55539433	55539433	T	C	RP1	c.2991T>C	NM_006269.2	NP_006260.1:p.(Asn997=)	NC_000008.10:g.55539433T>C	(Likely) benign	2 labs	1dd0efdad8
12:2788810 CACNA1C C>T	12	2788810	2788810	C	T	CACNA1C	c.5436C>T	NM_199460.4	NP_955630.3:p.(Asn1812=)	NC_000012.11:g.2788810C>T	(Likely) benign	2 labs	1dd3f905c2
1:3328480 PRDM16 G>A	1	3328480	3328480	G	A	PRDM16	c.1719G>A	NM_022114.4	NP_071397.3:p.(Ala573=)	NC_000001.10:g.3328480G>A	(Likely) benign	4 labs	1dd9968eaa
11:119145667 CBL A>G	11	119145667	119145667	A	G	CBL	c.869+4A>G	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119145667A>G	(Likely) benign	2 labs	1dde925adc
1:240371541 FMN2 A>T	1	240371541	240371541	A	T	FMN2	c.3441A>T	NM_001305424.2	NP_001292353.1:p.(Pro1147=)	NC_000001.10:g.240371541A>T	(Likely) benign	2 labs	1de67afaa1
17:68172409 KCNJ2 A>G	17	68172409	68172409	A	G	KCNJ2	c.1229A>G	NM_000891.3	NP_000882.1:p.(Asn410Ser)	NC_000017.10:g.68172409A>G	(Likely) benign	2 labs	1debc6593e
8:10480499 RP1L1 G>A	8	10480499	10480499	G	A	RP1L1	c.213C>T	NM_178857.6	NP_849188.4:p.(Arg71=)	NC_000008.10:g.10480499G>A	(Likely) benign	2 labs	1ded5cf48b
2:179664562 TTN C>T	2	179664562	179664562	C	T	TTN	c.659G>A	NM_001267550.2	NP_001254479.2:p.(Arg220Gln)	NC_000002.11:g.179664562C>T	VUS	3 labs	1defb7994c
3:195968820 PCYT1A T>C	3	195968820	195968820	T	C	PCYT1A	c.707A>G	NM_005017.4	NP_005008.2:p.(Asn236Ser)	NC_000003.11:g.195968820T>C	(Likely) benign	2 labs	1df59c2c78
17:7751858 KDM6B T>TCAC	17	7751858	7751891	T	TCAC	KDM6B	c.2283_2285dup	NM_001080424.2	NP_001073893.1:p.(Thr762dup)	NC_000017.10:g.7751889_7751891dup	(Likely) benign	2 labs	1e04c35003
8:10480292 RP1L1 G>T	8	10480292	10480292	G	T	RP1L1	c.420C>A	NM_178857.6	NP_849188.4:p.(Gly140=)	NC_000008.10:g.10480292G>T	(Likely) benign	2 labs	1dfb9be8d3
5:178413350 GRM6 G>A	5	178413350	178413350	G	A	GRM6	c.1905C>T	NM_000843.4	NP_000834.2:p.(Tyr635=)	NC_000005.9:g.178413350G>A	(Likely) benign	2 labs	1dfffc343f
3:97499441 ARL6 T>C	3	97499441	97499441	T	C	ARL6	c.186-18T>C	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97499441T>C	(Likely) benign	2 labs	1e085fdc6a
10:73326681 CDH23 G>A	10	73326681	73326681	G	A	CDH23	c.612G>A	NM_022124.6	NP_071407.4:p.(Thr204=)	NC_000010.10:g.73326681G>A	(Likely) benign	2 labs	1e0fdead71
16:15838969 MYH11 T>C	16	15838969	15838969	T	C	MYH11	c.2541+17A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15838969T>C	(Likely) benign	2 labs	1e16e265a6
X:43817823 NDP G>C	X	43817823	43817823	G	C	NDP	c.69C>G	NM_000266.4	NP_000257.1:p.(Asp23Glu)	NC_000023.10:g.43817823G>C	(Likely) benign	2 labs	1e1a0f2b2e
2:241685258 KIF1A C>G	2	241685258	241685258	C	G	KIF1A	c.3271G>C	NM_001244008.2	NP_001230937.1:p.(Ala1091Pro)	NC_000002.11:g.241685258C>G	VUS	2 labs	1e1c0bff59
14:23885339 MYH7 G>A	14	23885339	23885339	G	A	MYH7	c.4827C>T	NM_000257.4	NP_000248.2:p.(Asn1609=)	NC_000014.8:g.23885339G>A	(Likely) benign	2 labs	1e207c80e5
1:26384907 TRIM63 C>T	1	26384907	26384907	C	T	TRIM63	c.805G>A	NM_032588.4	NP_115977.2:p.(Glu269Lys)	NC_000001.10:g.26384907C>T	(Likely) benign	3 labs	1e2367b40b
3:87295049 CHMP2B T>C	3	87295049	87295049	T	C	CHMP2B	c.312T>C	NM_014043.4	NP_054762.2:p.(Thr104=)	NC_000003.11:g.87295049T>C	(Likely) benign	3 labs	1e2e462af4
5:32712410 NPR3 C>G	5	32712410	32712410	C	G	NPR3	c.528C>G	NM_001204375.2	NP_001191304.1:p.(Arg176=)	NC_000005.9:g.32712410C>G	(Likely) benign	2 labs	1e2ae33f3b
2:179404550 TTN G>A	2	179404550	179404550	G	A	TTN	c.98242C>T	NM_001267550.2	NP_001254479.2:p.(Arg32748Cys)	NC_000002.11:g.179404550G>A	(Likely) benign	5 labs	1e396c3bbb
7:151877154 KMT2C G>A	7	151877154	151877154	G	A	KMT2C	c.7207C>T	NM_170606.3	NP_733751.2:p.(Arg2403Ter)	NC_000007.13:g.151877154G>A	(Likely) pathogenic	2 labs	1e351ccd88
18:56056382 NEDD4L C>T	18	56056382	56056382	C	T	NEDD4L	c.2553C>T	NM_015277.6	NP_056092.2:p.(Asn851=)	NC_000018.9:g.56056382C>T	(Likely) benign	3 labs	1e37a8f5c2
5:90103525 ADGRV1 G>C	5	90103525	90103525	G	C	ADGRV1	c.14943G>C	NM_032119.4	NP_115495.3:p.(Gln4981His)	NC_000005.9:g.90103525G>C	(Likely) benign	2 labs	1e3c8265f8
11:61730145 BEST1 T>C	11	61730145	61730145	T	C	BEST1	c.547T>C	NM_001363593.2	NP_001350522.1:p.(Ser183Pro)	NC_000011.9:g.61730145T>C	(Likely) benign	2 labs	1e497c20b6
14:23884366 MYH7 T>C	14	23884366	23884366	T	C	MYH7	c.5397A>G	NM_000257.4	NP_000248.2:p.(Glu1799=)	NC_000014.8:g.23884366T>C	(Likely) benign	2 labs	1e512a17c4
16:15818143 MYH11 C>T	16	15818143	15818143	C	T	MYH11	c.4240G>A	NM_002474.3	NP_002465.1:p.(Ala1414Thr)	NC_000016.9:g.15818143C>T	(Likely) benign	2 labs	1e534de58d
15:91304325 BLM A>G	15	91304325	91304325	A	G	BLM	c.1722A>G	NM_000057.4	NP_000048.1:p.(Leu574=)	NC_000015.9:g.91304325A>G	(Likely) benign	3 labs	1e5b5cf475
1:156146640 SEMA4A G>A	1	156146640	156146640	G	A	SEMA4A	c.2138G>A	NM_022367.4	NP_071762.2:p.(Arg713Gln)	NC_000001.10:g.156146640G>A	(Likely) benign	2 labs	1e7af794e5
2:179595427 TTN A>G	2	179595427	179595427	A	G	TTN	c.17833T>C	NM_001267550.2	NP_001254479.2:p.(Ser5945Pro)	NC_000002.11:g.179595427A>G	VUS	2 labs	1e7db6092e
17:39921168 JUP T>A	17	39921168	39921168	T	A	JUP	c.1054+7A>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39921168T>A	(Likely) benign	2 labs	1e88cf8100
3:4730181 ITPR1 C>T	3	4730181	4730181	C	T	ITPR1	c.3660C>T	NM_001168272.2	NP_001161744.1:p.(Ala1220=)	NC_000003.11:g.4730181C>T	(Likely) benign	2 labs	1e948fc479
3:184049807 EIF4G1 C>T	3	184049807	184049807	C	T	EIF4G1	c.4554C>T	NM_182917.4	NP_886553.3:p.(Asp1518=)	NC_000003.11:g.184049807C>T	(Likely) benign	2 labs	1e98379c32
2:21226042 APOB A>G	2	21226042	21226042	A	G	APOB	c.12252T>C	NM_000384.3	NP_000375.3:p.(Tyr4084=)	NC_000002.11:g.21226042A>G	(Likely) benign	2 labs	1ea35beee6
15:23891486 MAGEL2 G>T	15	23891486	23891486	G	T	MAGEL2	c.1404C>A	NM_019066.5	NP_061939.3:p.(Ala468=)	NC_000015.9:g.23891486G>T	(Likely) benign	2 labs	1ea9c49f32
20:746179 SLC52A3 G>A	20	746179	746179	G	A	SLC52A3	c.240C>T	NM_033409.4	NP_212134.3:p.(Gly80=)	NC_000020.10:g.746179G>A	(Likely) benign	2 labs	1eb3f8dc5e
X:73812617 RLIM T>G	X	73812617	73812617	T	G	RLIM	c.533A>C	NM_183353.3	NP_899196.1:p.(Asn178Thr)	NC_000023.10:g.73812617T>G	(Likely) benign	2 labs	1ebc191686
4:122750140 BBS7 T>TA	4	122750140	122750143	T	TA	BBS7	c.1677-258dup	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122750143dup	(Likely) benign	2 labs	1ec136fe0c
18:29102115 DSG2 A>G	18	29102115	29102115	A	G	DSG2	c.593A>G	NM_001943.5	NP_001934.2:p.(Tyr198Cys)	NC_000018.9:g.29102115A>G	VUS	2 labs	1ec31f3747
7:128481565 FLNC G>A	7	128481565	128481565	G	A	FLNC	c.2065G>A	NM_001458.5	NP_001449.3:p.(Glu689Lys)	NC_000007.13:g.128481565G>A	VUS	2 labs	1ec8f50ad5
1:156108459 LMNA C>T	1	156108459	156108459	C	T	LMNA	c.1879C>T	NM_170707.4	NP_733821.1:p.(Arg627Cys)	NC_000001.10:g.156108459C>T	VUS	6 labs	1eca439204
16:88783440 PIEZO1 G>T	16	88783440	88783440	G	T	PIEZO1	c.6651C>A	NM_001142864.4	NP_001136336.2:p.(Gly2217=)	NC_000016.9:g.88783440G>T	(Likely) benign	2 labs	1ececd2c30
2:179534380 TTN A>C	2	179534380	179534380	A	C	TTN	c.35409T>G	NM_001267550.2	NP_001254479.2:p.(Ile11803Met)	NC_000002.11:g.179534380A>C	(Likely) benign	2 labs	1eda337723
7:81588616 CACNA2D1 T>G	7	81588616	81588616	T	G	CACNA2D1	c.3134A>C	NM_000722.4	NP_000713.2:p.(Asp1045Ala)	NC_000007.13:g.81588616T>G	(Likely) benign	4 labs	1ee898d7fe
1:237802424 RYR2 A>C	1	237802424	237802424	A	C	RYR2	c.7038A>C	NM_001035.3	NP_001026.2:p.(Ala2346=)	NC_000001.10:g.237802424A>C	(Likely) benign	2 labs	1ef8526de3
X:100749038 ARMCX4 C>T	X	100749038	100749038	C	T	ARMCX4	c.5462C>T	NM_001256155.2	NP_001243084.2:p.(Ala1821Val)	NC_000023.10:g.100749038C>T	(Likely) benign	2 labs	1efc52f82f
10:89623142 KLLN C>T	10	89623142	89623142	C	T	KLLN	c.-898G>A	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623142C>T	(Likely) benign	2 labs	1efe5fd570
X:153296071 MECP2 GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT>G	X	153296071	153296121	GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGT	G	MECP2	c.885_928del	NM_001369391.2	NP_001356320.1:p.(Pro296Ter)	NC_000023.10:g.153296078_153296121del	(Likely) pathogenic	3 labs	1f0f242fe5
8:100831065 VPS13B C>T	8	100831065	100831065	C	T	VPS13B	c.8645C>T	NM_017890.5	NP_060360.3:p.(Pro2882Leu)	NC_000008.10:g.100831065C>T	(Likely) benign	2 labs	1f164fa2ff
8:1844621 ARHGEF10 C>T	8	1844621	1844621	C	T	ARHGEF10	c.1632+6C>T	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1844621C>T	(Likely) benign	2 labs	1f1889a1d9
15:31359284 TRPM1 T>C	15	31359284	31359284	T	C	TRPM1	c.651A>G	NM_001252020.2	NP_001238949.1:p.(Glu217=)	NC_000015.9:g.31359284T>C	(Likely) benign	2 labs	1f21477ea3
10:55782743 PCDH15 A>G	10	55782743	55782743	A	G	PCDH15	c.2435T>C	NM_001354429.2	NP_001341358.1:p.(Ile812Thr)	NC_000010.10:g.55782743A>G	(Likely) benign	2 labs	1f293ed470
5:37176061 CPLANE1 C>T	5	37176061	37176061	C	T	CPLANE1	c.5928G>A	NM_001384732.1	NP_001371661.1:p.(Gly1976=)	NC_000005.9:g.37176061C>T	(Likely) benign	3 labs	1f296e7eae
7:128489023 FLNC G>A	7	128489023	128489023	G	A	FLNC	c.4914G>A	NM_001458.5	NP_001449.3:p.(Lys1638=)	NC_000007.13:g.128489023G>A	(Likely) benign	3 labs	1f38621e6d
7:128480183 FLNC C>T	7	128480183	128480183	C	T	FLNC	c.1518C>T	NM_001458.5	NP_001449.3:p.(Ser506=)	NC_000007.13:g.128480183C>T	(Likely) benign	2 labs	1f4e8df0e2
17:41234436 BRCA1 T>C	17	41234436	41234436	T	C	BRCA1	c.4342A>G	NM_007294.4	NP_009225.1:p.(Ser1448Gly)	NC_000017.10:g.41234436T>C	(Likely) benign	3 labs	1f584f3ea8
13:32950836 BRCA2 C>T	13	32950836	32950836	C	T	BRCA2	c.8662C>T	NM_000059.4	NP_000050.3:p.(Arg2888Cys)	NC_000013.10:g.32950836C>T	(Likely) benign	6 labs	1f589f5be4
2:63720089 WDPCP A>T	2	63720089	63720089	A	T	WDPCP	c.76-15T>A	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63720089A>T	(Likely) benign	3 labs	1f5c16f4ae
3:37056045 MLH1 A>G	3	37056045	37056045	A	G	MLH1	c.790+10A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37056045A>G	(Likely) benign	6 labs	1f5e46b50d
14:21769356 RPGRIP1 C>G	14	21769356	21769356	C	G	RPGRIP1	c.450C>G	NM_020366.4	NP_065099.3:p.(Leu150=)	NC_000014.8:g.21769356C>G	(Likely) benign	2 labs	1f5f8d38d2
14:23858271 MYH6 AGG>A	14	23858271	23858281	AGG	A	MYH6	c.3979-9_3979-8del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858280_23858281del	(Likely) benign	5 labs	1f6dd5fd28
1:17350567 SDHB G>A	1	17350567	17350567	G	A	SDHB	c.543C>T	NM_003000.3	NP_002991.2:p.(Asp181=)	NC_000001.10:g.17350567G>A	(Likely) benign	2 labs	1f767779a5
16:53705453 RPGRIP1L A>G	16	53705453	53705453	A	G	RPGRIP1L	c.1072T>C	NM_001308334.3	NP_001295263.1:p.(Leu358=)	NC_000016.9:g.53705453A>G	(Likely) benign	3 labs	1f79a48091
2:189849520 COL3A1 C>G	2	189849520	189849520	C	G	COL3A1	c.114C>G	NM_000090.4	NP_000081.2:p.(Ser38=)	NC_000002.11:g.189849520C>G	(Likely) benign	3 labs	1f7a32203d
11:31832367 PAX6 C>T	11	31832367	31832367	C	T	PAX6	c.-910+9G>A	NM_001368905.2	NP_001355834.1:p.?	NC_000011.9:g.31832367C>T	(Likely) benign	2 labs	1f7d3cf7bf
5:147818056 FBXO38 C>A	5	147818056	147818056	C	A	FBXO38	c.2794C>A	NM_030793.5	NP_110420.3:p.(Gln932Lys)	NC_000005.9:g.147818056C>A	(Likely) benign	2 labs	1f86156773
22:38528949 PLA2G6 G>A	22	38528949	38528949	G	A	PLA2G6	c.966C>T	NM_003560.4	NP_003551.2:p.(His322=)	NC_000022.10:g.38528949G>A	(Likely) benign	2 labs	1f8ae46c98
6:123868506 TRDN C>T	6	123868506	123868506	C	T	TRDN	c.403G>A	NM_006073.4	NP_006064.2:p.(Glu135Lys)	NC_000006.11:g.123868506C>T	(Likely) benign	2 labs	1f8de3e585
12:103352171 ASCL1 C>CGCAGCAGCA	12	103352171	103352208	C	CGCAGCAGCA	ASCL1	c.178_186dup	NM_004316.4	NP_004307.2:p.(Gln60_Gln62dup)	NC_000012.11:g.103352200_103352208dup	(Likely) benign	2 labs	1fa0a6c963
12:57884116 MARS1 C>T	12	57884116	57884116	C	T	MARS1	c.617C>T	NM_004990.4	NP_004981.2:p.(Pro206Leu)	NC_000012.11:g.57884116C>T	(Likely) benign	2 labs	1fa5031c03
9:111678508 ELP1 C>T	9	111678508	111678508	C	T	ELP1	c.934G>A	NM_003640.5	NP_003631.2:p.(Glu312Lys)	NC_000009.11:g.111678508C>T	(Likely) benign	2 labs	1facd61731
2:179610695 TTN C>T	2	179610695	179610695	C	T	TTN	c.16432G>A	NM_133379.5	NP_596870.2:p.(Val5478Met)	NC_000002.11:g.179610695C>T	(Likely) benign	3 labs	1fb0ee97e0
21:38302543 HLCS CA>C	21	38302543	38302545	CA	C	HLCS	c.1179+7del	NM_001242784.3	NP_001229713.1:p.?	NC_000021.8:g.38302545del	(Likely) benign	2 labs	1fbd367e63
1:40782839 COL9A2 G>A	1	40782839	40782839	G	A	COL9A2	c.31C>T	NM_001852.4	NP_001843.1:p.(Leu11Phe)	NC_000001.10:g.40782839G>A	(Likely) benign	2 labs	1fb5b314ec
16:23640970 PALB2 G>A	16	23640970	23640970	G	A	PALB2	c.2505C>T	NM_024675.4	NP_078951.2:p.(Ser835=)	NC_000016.9:g.23640970G>A	(Likely) benign	3 labs	1fb5eceb6f
3:38739353 SCN10A G>A	3	38739353	38739353	G	A	SCN10A	c.5358C>T	NM_006514.4	NP_006505.4:p.(Ile1786=)	NC_000003.11:g.38739353G>A	(Likely) benign	2 labs	1fc4b06b23
15:66729107 MAP2K1 C>T	15	66729107	66729107	C	T	MAP2K1	c.315C>T	NM_002755.4	NP_002746.1:p.(Pro105=)	NC_000015.9:g.66729107C>T	(Likely) benign	3 labs	1fcd6f53e2
12:76740879 BBS10 C>T	12	76740879	76740879	C	T	BBS10	c.886G>A	NM_024685.4	NP_078961.3:p.(Ala296Thr)	NC_000012.11:g.76740879C>T	(Likely) benign	3 labs	1fd95e3371
2:32340779 SPAST G>A	2	32340779	32340779	G	A	SPAST	c.879G>A	NM_014946.4	NP_055761.2:p.(Pro293=)	NC_000002.11:g.32340779G>A	(Likely) benign	3 labs	1fddeec272
2:21227177 APOB G>A	2	21227177	21227177	G	A	APOB	c.12051C>T	NM_000384.3	NP_000375.3:p.(Asp4017=)	NC_000002.11:g.21227177G>A	(Likely) benign	2 labs	1fe5a25d64
1:237060288 MTR C>T	1	237060288	237060288	C	T	MTR	c.3599-18C>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060288C>T	(Likely) benign	2 labs	1fe6afb9b6
7:91670167 AKAP9 A>G	7	91670167	91670167	A	G	AKAP9	c.4872A>G	NM_005751.5	NP_005742.4:p.(Glu1624=)	NC_000007.13:g.91670167A>G	(Likely) benign	3 labs	1fe7650d9a
16:70295047 AARS1 G>A	16	70295047	70295047	G	A	AARS1	c.1685C>T	NM_001605.3	NP_001596.2:p.(Thr562Ile)	NC_000016.9:g.70295047G>A	(Likely) benign	4 labs	1febe1a4d3
16:31195692 FUS TGGTGGA>T	16	31195692	31195720	TGGTGGA	T	FUS	c.521_523+3del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31195715_31195720del	(Likely) benign	4 labs	1ff08c4697
6:152660451 SYNE1 G>A	6	152660451	152660451	G	A	SYNE1	c.12276C>T	NM_182961.4	NP_892006.3:p.(Leu4092=)	NC_000006.11:g.152660451G>A	(Likely) benign	2 labs	1ff9ae4206
6:42689559 PRPH2 G>A	6	42689559	42689559	G	A	PRPH2	c.514C>T	NM_000322.5	NP_000313.2:p.(Arg172Trp)	NC_000006.11:g.42689559G>A	(Likely) pathogenic	2 labs	20009b7e5b
18:77477840 CTDP1 G>C	18	77477840	77477840	G	C	CTDP1	c.2241G>C	NM_048368.4	NP_430255.2:p.(Arg747=)	NC_000018.9:g.77477840G>C	(Likely) benign	2 labs	2001ae3d4d
7:94027043 COL1A2 C>CT	7	94027043	94027053	C	CT	COL1A2	c.71-7dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027053dup	(Likely) benign	2 labs	200df3dd07
16:3646323 SLX4 G>A	16	3646323	3646323	G	A	SLX4	c.1755C>T	NM_032444.4	NP_115820.2:p.(Pro585=)	NC_000016.9:g.3646323G>A	(Likely) benign	2 labs	2019ff5915
2:113984717 PAX8 C>T	2	113984717	113984717	C	T	PAX8	c.1189+15G>A	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113984717C>T	(Likely) benign	2 labs	201a1c948f
15:85383458 ALPK3 G>A	15	85383458	85383458	G	A	ALPK3	c.948G>A	NM_020778.5	NP_065829.4:p.(Lys316=)	NC_000015.9:g.85383458G>A	(Likely) benign	2 labs	201f8bba34
X:153609287 EMD G>A	X	153609287	153609287	G	A	EMD	c.495G>A	NM_000117.3	NP_000108.1:p.(Thr165=)	NC_000023.10:g.153609287G>A	(Likely) benign	6 labs	202926759a
10:69926097 MYPN T>C	10	69926097	69926097	T	C	MYPN	c.1647T>C	NM_032578.4	NP_115967.2:p.(Ser549=)	NC_000010.10:g.69926097T>C	(Likely) benign	2 labs	202e7d7cd4
7:128415071 OPN1SW C>T	7	128415071	128415071	C	T	OPN1SW	c.481G>A	NM_001385125.1	NP_001372054.1:p.(Val161Ile)	NC_000007.13:g.128415071C>T	(Likely) benign	2 labs	2029b2c0f6
17:6364828 PITPNM3 C>T	17	6364828	6364828	C	T	PITPNM3	c.2355G>A	NM_031220.4	NP_112497.2:p.(Pro785=)	NC_000017.10:g.6364828C>T	(Likely) benign	2 labs	20387acf10
2:179641975 TTN C>T	2	179641975	179641975	C	T	TTN	c.4715G>A	NM_001267550.2	NP_001254479.2:p.(Arg1572Gln)	NC_000002.11:g.179641975C>T	(Likely) benign	2 labs	2038d304cf
2:73675227 ALMS1 T>TCTC	2	73675227	73675230	T	TCTC	ALMS1	c.1573_1579=	NM_015120.4	NP_055935.4:p.(Ser525_Leu527=)	NC_000002.11:g.73675228_73675230dup	(Likely) benign	2 labs	203755df48
1:197404115 CRB1 T>C	1	197404115	197404115	T	C	CRB1	c.3050T>C	NM_001257965.2	NP_001244894.1:p.(Met1017Thr)	NC_000001.10:g.197404115T>C	(Likely) pathogenic	2 labs	20410e0161
2:44547574 SLC3A1 G>A	2	44547574	44547574	G	A	SLC3A1	c.1854G>A	NM_000341.4	NP_000332.2:p.(Met618Ile)	NC_000002.11:g.44547574G>A	(Likely) benign	3 labs	20414c9ae6
7:73474693 ELN C>T	7	73474693	73474693	C	T	ELN	c.1622-13C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73474693C>T	(Likely) benign	3 labs	2045b4215e
14:50585574 SOS2 C>CA	14	50585574	50585584	C	CA	SOS2	c.3490-4dup	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50585584dup	(Likely) benign	2 labs	204a66b737
15:67473722 SMAD3 C>T	15	67473722	67473722	C	T	SMAD3	c.802C>T	NM_005902.4	NP_005893.1:p.(Arg268Cys)	NC_000015.9:g.67473722C>T	(Likely) pathogenic	2 labs	204cd29be6
6:7581029 DSP ACACGC>A	6	7581029	7581035	ACACGC	A	DSP	c.4608_4612del	NM_004415.4	NP_004406.2:p.(Arg1537GlufsTer5)	NC_000006.11:g.7581031_7581035del	(Likely) pathogenic	4 labs	2074a7e6fa
15:73007700 BBS4 A>C	15	73007700	73007700	A	C	BBS4	c.289A>C	NM_033028.5	NP_149017.2:p.(Ser97Arg)	NC_000015.9:g.73007700A>C	VUS	2 labs	206c404a64
1:211836799 NEK2 A>G	1	211836799	211836799	A	G	NEK2	c.1307T>C	NM_002497.4	NP_002488.1:p.(Leu436Pro)	NC_000001.10:g.211836799A>G	VUS	2 labs	2090d6b037
9:130263350 LRSAM1 T>C	9	130263350	130263350	T	C	LRSAM1	c.1974T>C	NM_138361.5	NP_612370.3:p.(Ser658=)	NC_000009.11:g.130263350T>C	(Likely) benign	2 labs	2097968c80
10:55566702 PCDH15 C>T	10	55566702	55566702	C	T	PCDH15	c.4794G>A	NM_001354429.2	NP_001341358.1:p.(Thr1598=)	NC_000010.10:g.55566702C>T	(Likely) benign	2 labs	20996ca219
6:7570655 DSP C>G	6	7570655	7570655	C	G	DSP	c.1575-15C>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7570655C>G	(Likely) benign	2 labs	2099717efd
X:100662763 GLA G>A	X	100662763	100662763	G	A	GLA	c.129C>T	NM_000169.3	NP_000160.1:p.(Gly43=)	NC_000023.10:g.100662763G>A	(Likely) benign	5 labs	20a0cb6f58
21:34003928 SYNJ1 A>AAGTATT	21	34003928	34003930	A	AAGTATT	SYNJ1	c.4215_4216insAATACT	NM_003895.3	NP_003886.3:p.(Val1405_Leu1406insAsnThr)	NC_000021.8:g.34003929_34003930insGTATTA	(Likely) benign	2 labs	20a1b8d53e
11:47369443 MYBPC3 G>A	11	47369443	47369443	G	A	MYBPC3	c.786C>T	NM_000256.3	NP_000247.2:p.(Thr262=)	NC_000011.9:g.47369443G>A	(Likely) benign	5 labs	20c4e3582b
X:70444246 GJB1 G>T	X	70444246	70444246	G	T	GJB1	c.689G>T	NM_000166.6	NP_000157.1:p.(Arg230Leu)	NC_000023.10:g.70444246G>T	VUS	2 labs	20d3622294
9:135864513 GFI1B C>T	9	135864513	135864513	C	T	GFI1B	c.576C>T	NM_004188.8	NP_004179.3:p.(Phe192=)	NC_000009.11:g.135864513C>T	(Likely) benign	2 labs	20e0e1783c
5:58285753 PDE4D G>GA	5	58285753	58285761	G	GA	PDE4D	c.1288-8dup	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58285761dup	(Likely) benign	2 labs	20e59166a0
1:156106049 LMNA G>A	1	156106049	156106049	G	A	LMNA	c.1202G>A	NM_170707.4	NP_733821.1:p.(Arg401His)	NC_000001.10:g.156106049G>A	VUS	4 labs	20e9c7ae74
18:29172850 TTR T>C	18	29172850	29172850	T	C	TTR	c.70-9T>C	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29172850T>C	(Likely) benign	2 labs	20fe089658
2:179455278 TTN A>C	2	179455278	179455278	A	C	TTN	c.61174T>G	NM_001267550.2	NP_001254479.2:p.(Trp20392Gly)	NC_000002.11:g.179455278A>C	VUS	2 labs	2108de2c9a
2:179396293 TTN T>C	2	179396293	179396293	T	C	TTN	c.105049A>G	NM_001267550.2	NP_001254479.2:p.(Thr35017Ala)	NC_000002.11:g.179396293T>C	VUS	2 labs	210d9ef50f
11:95591684 MTMR2 A>G	11	95591684	95591684	A	G	MTMR2	c.354+11T>C	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95591684A>G	(Likely) benign	2 labs	210dd0b460
7:91729054 AKAP9 G>A	7	91729054	91729054	G	A	AKAP9	c.10767G>A	NM_005751.5	NP_005742.4:p.(Leu3589=)	NC_000007.13:g.91729054G>A	(Likely) benign	3 labs	21179c0f12
14:23891478 MYH7 C>T	14	23891478	23891478	C	T	MYH7	c.3156G>A	NM_000257.4	NP_000248.2:p.(Lys1052=)	NC_000014.8:g.23891478C>T	(Likely) benign	2 labs	2119ef70f3
2:179589066 TTN C>A	2	179589066	179589066	C	A	TTN	c.21036G>T	NM_001267550.2	NP_001254479.2:p.(Arg7012Ser)	NC_000002.11:g.179589066C>A	VUS	2 labs	21271af949
1:216061854 USH2A C>A	1	216061854	216061854	C	A	USH2A	c.8137G>T	NM_206933.4	NP_996816.3:p.(Ala2713Ser)	NC_000001.10:g.216061854C>A	VUS	2 labs	2127f5aef6
1:237675041 RYR2 G>A	1	237675041	237675041	G	A	RYR2	c.2772G>A	NM_001035.3	NP_001026.2:p.(Leu924=)	NC_000001.10:g.237675041G>A	(Likely) benign	3 labs	213b9d0ff0
1:10364139 KIF1B C>T	1	10364139	10364139	C	T	KIF1B	c.2896C>T	NM_183416.4	NP_904325.2:p.(Pro966Ser)	NC_000001.10:g.10364139C>T	(Likely) benign	3 labs	214eddf1e2
2:179440956 TTN G>T	2	179440956	179440956	G	T	TTN	c.69903C>A	NM_001267550.2	NP_001254479.2:p.(Phe23301Leu)	NC_000002.11:g.179440956G>T	(Likely) benign	2 labs	2157534ba2
16:1506174 CLCN7 G>A	16	1506174	1506174	G	A	CLCN7	c.856C>T	NM_001287.6	NP_001278.1:p.(Arg286Trp)	NC_000016.9:g.1506174G>A	(Likely) pathogenic	2 labs	21592134fa
14:21162053 ANG T>G	14	21162053	21162053	T	G	ANG	c.330T>G	NM_001145.4	NP_001136.1:p.(Gly110=)	NC_000014.8:g.21162053T>G	(Likely) benign	3 labs	2159edc149
14:23866189 MYH6 G>A	14	23866189	23866189	G	A	MYH6	c.2151C>T	NM_002471.4	NP_002462.2:p.(Tyr717=)	NC_000014.8:g.23866189G>A	(Likely) benign	4 labs	215f2f13d8
8:11614575 GATA4 A>G	8	11614575	11614575	A	G	GATA4	c.1132A>G	NM_001308093.3	NP_001295022.1:p.(Ser378Gly)	NC_000008.10:g.11614575A>G	(Likely) benign	4 labs	21605cd62f
11:1263750 MUC5B C>T	11	1263750	1263750	C	T	MUC5B	c.5640C>T	NM_002458.3	NP_002449.2:p.(Asp1880=)	NC_000011.9:g.1263750C>T	(Likely) benign	2 labs	2165068498
17:48275344 COL1A1 C>A	17	48275344	48275344	C	A	COL1A1	c.608G>T	NM_000088.4	NP_000079.2:p.(Gly203Val)	NC_000017.10:g.48275344C>A	(Likely) pathogenic	2 labs	216ce90af1
18:29122722 DSG2 C>T	18	29122722	29122722	C	T	DSG2	c.2241C>T	NM_001943.5	NP_001934.2:p.(Thr747=)	NC_000018.9:g.29122722C>T	(Likely) benign	3 labs	21736c06cc
2:189929400 COL5A2 G>C	2	189929400	189929400	G	C	COL5A2	c.1618-19C>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189929400G>C	(Likely) benign	2 labs	218492c120
7:107342294 SLC26A4 T>G	7	107342294	107342294	T	G	SLC26A4	c.1826T>G	NM_000441.2	NP_000432.1:p.(Val609Gly)	NC_000007.13:g.107342294T>G	(Likely) benign	3 labs	218ac7785e
8:97172666 GDF6 C>A	8	97172666	97172666	C	A	GDF6	c.255G>T	NM_001001557.4	NP_001001557.1:p.(Pro85=)	NC_000008.10:g.97172666C>A	(Likely) benign	2 labs	218bbcad2f
2:179407583 TTN C>T	2	179407583	179407583	C	T	TTN	c.96998G>A	NM_001267550.2	NP_001254479.2:p.(Arg32333His)	NC_000002.11:g.179407583C>T	(Likely) benign	4 labs	2193126a10
2:152424933 NEB TA>T	2	152424933	152424946	TA	T	NEB	c.17635-3del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152424946del	(Likely) benign	2 labs	21972796fe
1:89524657 GBP1 C>G	1	89524657	89524657	C	G	GBP1	c.498G>C	NM_002053.3	NP_002044.2:p.(Glu166Asp)	NC_000001.10:g.89524657C>G	(Likely) benign	2 labs	2198a9ef94
7:91630330 AKAP9 G>A	7	91630330	91630330	G	A	AKAP9	c.1099G>A	NM_005751.5	NP_005742.4:p.(Val367Met)	NC_000007.13:g.91630330G>A	(Likely) benign	2 labs	21ae2e787f
10:69935169 MYPN G>A	10	69935169	69935169	G	A	MYPN	c.2654G>A	NM_032578.4	NP_115967.2:p.(Arg885Gln)	NC_000010.10:g.69935169G>A	VUS	2 labs	21aed24975
2:179432576 TTN G>C	2	179432576	179432576	G	C	TTN	c.70579C>G	NM_133378.4	NP_596869.4:p.(Pro23527Ala)	NC_000002.11:g.179432576G>C	VUS	2 labs	21b8ac9e3b
3:38645337 SCN5A C>T	3	38645337	38645337	C	T	SCN5A	c.1756G>A	NM_001099404.2	NP_001092874.1:p.(Ala586Thr)	NC_000003.11:g.38645337C>T	VUS	2 labs	21bcf985fe
16:88495963 ZNF469 C>T	16	88495963	88495963	C	T	ZNF469	c.2085C>T	NM_001367624.2	NP_001354553.1:p.(Pro695=)	NC_000016.9:g.88495963C>T	(Likely) benign	2 labs	21c717fd88
12:107126776 RFX4 G>C	12	107126776	107126776	G	C	RFX4	c.1546G>C	NM_213594.3	NP_998759.1:p.(Ala516Pro)	NC_000012.11:g.107126776G>C	VUS	2 labs	21d0c8923a
18:28648096 DSC2 G>A	18	28648096	28648096	G	A	DSC2	c.2591C>T	NM_024422.6	NP_077740.1:p.(Ser864Leu)	NC_000018.9:g.28648096G>A	VUS	2 labs	21dc48e0fa
16:89986144 MC1R C>T	16	89986144	89986144	C	T	MC1R	c.478C>T	NM_002386.4	NP_002377.4:p.(Arg160Trp)	NC_000016.9:g.89986144C>T	(Likely) benign	2 labs	21dec77805
17:59857759 BRIP1 A>G	17	59857759	59857759	A	G	BRIP1	c.1798T>C	NM_032043.3	NP_114432.2:p.(Phe600Leu)	NC_000017.10:g.59857759A>G	VUS	3 labs	21e24b6d55
10:95418651 PDE6C T>C	10	95418651	95418651	T	C	PDE6C	c.2037-7T>C	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95418651T>C	(Likely) benign	2 labs	21e9b8573d
17:41244465 BRCA1 C>T	17	41244465	41244465	C	T	BRCA1	c.3083G>A	NM_007294.4	NP_009225.1:p.(Arg1028His)	NC_000017.10:g.41244465C>T	(Likely) benign	2 labs	21ec3a1314
11:8119251 TUB A>C	11	8119251	8119251	A	C	TUB	c.1051-10A>C	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8119251A>C	(Likely) benign	2 labs	21ee2d9638
3:87311353 POU1F1 C>G	3	87311353	87311353	C	G	POU1F1	c.550G>C	NM_001122757.3	NP_001116229.1:p.(Ala184Pro)	NC_000003.11:g.87311353C>G	(Likely) pathogenic	3 labs	21f33c4c23
2:179452017 TTN C>T	2	179452017	179452017	C	T	TTN	c.63921G>A	NM_001267550.2	NP_001254479.2:p.(Glu21307=)	NC_000002.11:g.179452017C>T	(Likely) benign	2 labs	21f6f495f1
6:32029288 TNXB C>T	6	32029288	32029288	C	T	TNXB	c.7378G>A	NM_019105.8	NP_061978.6:p.(Glu2460Lys)	NC_000006.11:g.32029288C>T	(Likely) benign	2 labs	21f86063ab
7:151372659 PRKAG2 C>A	7	151372659	151372659	C	A	PRKAG2	c.531G>T	NM_016203.4	NP_057287.2:p.(Leu177=)	NC_000007.13:g.151372659C>A	(Likely) benign	3 labs	21fc4c8a90
17:48680475 CACNA1G C>T	17	48680475	48680475	C	T	CACNA1G	c.4084C>T	NM_018896.5	NP_061496.2:p.(Leu1362=)	NC_000017.10:g.48680475C>T	(Likely) benign	2 labs	22156a8fed
2:1642736 PXDN C>T	2	1642736	1642736	C	T	PXDN	c.4088G>A	NM_012293.3	NP_036425.1:p.(Gly1363Glu)	NC_000002.11:g.1642736C>T	(Likely) benign	2 labs	2219950a40
X:152771533 BGN C>T	X	152771533	152771533	C	T	BGN	c.564C>T	NM_001711.6	NP_001702.1:p.(Ile188=)	NC_000023.10:g.152771533C>T	(Likely) benign	2 labs	221e72d5c4
16:68846049 CDH1 G>A	16	68846049	68846049	G	A	CDH1	c.1020G>A	NM_004360.5	NP_004351.1:p.(Thr340=)	NC_000016.9:g.68846049G>A	(Likely) benign	3 labs	2227f480ae
7:81689792 CACNA2D1 G>A	7	81689792	81689792	G	A	CACNA2D1	c.831C>T	NM_000722.4	NP_000713.2:p.(Ser277=)	NC_000007.13:g.81689792G>A	(Likely) benign	2 labs	222acbc458
2:179473988 TTN T>C	2	179473988	179473988	T	C	TTN	c.52049A>G	NM_001267550.2	NP_001254479.2:p.(Lys17350Arg)	NC_000002.11:g.179473988T>C	VUS	2 labs	222fa4c5b6
2:179426398 TTN G>A	2	179426398	179426398	G	A	TTN	c.84461C>T	NM_001267550.2	NP_001254479.2:p.(Pro28154Leu)	NC_000002.11:g.179426398G>A	(Likely) benign	4 labs	2232232533
X:153587684 FLNA C>T	X	153587684	153587684	C	T	FLNA	c.4233G>A	NM_001110556.2	NP_001104026.1:p.(Ser1411=)	NC_000023.10:g.153587684C>T	(Likely) benign	3 labs	2234c4d6e8
19:11223961 LDLR C>T	19	11223961	11223961	C	T	LDLR	c.1194C>T	NM_000527.5	NP_000518.1:p.(Ile398=)	NC_000019.9:g.11223961C>T	(Likely) benign	2 labs	2236ac4a38
2:48030632 MSH6 G>A	2	48030632	48030632	G	A	MSH6	c.3246G>A	NM_000179.3	NP_000170.1:p.(Pro1082=)	NC_000002.11:g.48030632G>A	(Likely) benign	2 labs	2239bd8c9c
9:140611424 EHMT1 C>T	9	140611424	140611424	C	T	EHMT1	c.432C>T	NM_024757.5	NP_079033.4:p.(Ala144=)	NC_000009.11:g.140611424C>T	(Likely) benign	3 labs	22428c6d16
1:236914812 ACTN2 G>A	1	236914812	236914812	G	A	ACTN2	c.1075G>A	NM_001278344.2	NP_001265273.1:p.(Glu359Lys)	NC_000001.10:g.236914812G>A	VUS	3 labs	225542bf03
X:41530655 CASK AT>A	X	41530655	41530667	AT	A	CASK	c.532+25del	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41530667del	(Likely) benign	2 labs	225ecda845
2:179546434 TTN G>A	2	179546434	179546434	G	A	TTN	c.29394C>T	NM_133378.4	NP_596869.4:p.(Val9798=)	NC_000002.11:g.179546434G>A	(Likely) benign	3 labs	22605ae3a5
2:179664253 TTN G>A	2	179664253	179664253	G	A	TTN	c.875C>T	NM_001267550.2	NP_001254479.2:p.(Pro292Leu)	NC_000002.11:g.179664253G>A	VUS	2 labs	2262ecc540
19:16593331 CALR3 G>A	19	16593331	16593331	G	A	CALR3	c.848C>T	NM_145046.5	NP_659483.2:p.(Thr283Ile)	NC_000019.9:g.16593331G>A	(Likely) benign	3 labs	227de054f5
11:65307562 LTBP3 A>C	11	65307562	65307562	A	C	LTBP3	c.3307T>G	NM_001130144.3	NP_001123616.1:p.(Ser1103Ala)	NC_000011.9:g.65307562A>C	VUS	2 labs	227e94c3af
X:44935924 KDM6A CT>C	X	44935924	44935937	CT	C	KDM6A	c.2703-5del	NM_021140.4	NP_066963.2:p.?	NC_000023.10:g.44935937del	(Likely) benign	4 labs	228478712b
2:1488386 TPO T>G	2	1488386	1488386	T	G	TPO	c.1357T>G	NM_001206744.2	NP_001193673.1:p.(Tyr453Asp)	NC_000002.11:g.1488386T>G	(Likely) pathogenic	2 labs	228a3d82e1
5:149447775 CSF1R C>T	5	149447775	149447775	C	T	CSF1R	c.1626+3G>A	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149447775C>T	(Likely) benign	3 labs	228a9eed0d
18:28651782 DSC2 C>G	18	28651782	28651782	C	G	DSC2	c.1914G>C	NM_004949.5	NP_004940.1:p.(Gln638His)	NC_000018.9:g.28651782C>G	(Likely) benign	3 labs	2291b5ef19
13:32914372 BRCA2 T>C	13	32914372	32914372	T	C	BRCA2	c.5880T>C	NM_000059.4	NP_000050.3:p.(Cys1960=)	NC_000013.10:g.32914372T>C	(Likely) benign	3 labs	22a886e938
6:167343204 RNASET2 C>T	6	167343204	167343204	C	T	RNASET2	c.643G>A	NM_003730.6	NP_003721.2:p.(Glu215Lys)	NC_000006.11:g.167343204C>T	(Likely) benign	3 labs	22aa44636f
11:118372559 KMT2A G>A	11	118372559	118372559	G	A	KMT2A	c.6492G>A	NM_001197104.2	NP_001184033.1:p.(Pro2164=)	NC_000011.9:g.118372559G>A	(Likely) benign	2 labs	22af78e847
10:68280484 CTNNA3 C>T	10	68280484	68280484	C	T	CTNNA3	c.1422G>A	NM_013266.4	NP_037398.2:p.(Ala474=)	NC_000010.10:g.68280484C>T	(Likely) benign	2 labs	22bd4358bb
9:139327598 INPP5E C>CGCGCCCACCCCTCCAGCT	9	139327598	139327608	C	CGCGCCCACCCCTCCAGCT	INPP5E	c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327607_139327608insCCTCCAGCTGCGCCCACC	(Likely) benign	3 labs	22be7f92b2
16:69143500 HAS3 C>T	16	69143500	69143500	C	T	HAS3	c.202C>T	NM_001199280.2	NP_001186209.1:p.(Arg68Trp)	NC_000016.9:g.69143500C>T	VUS	2 labs	22be9d1e87
2:73676312 ALMS1 A>G	2	73676312	73676312	A	G	ALMS1	c.2661A>G	NM_015120.4	NP_055935.4:p.(Lys887=)	NC_000002.11:g.73676312A>G	(Likely) benign	2 labs	22c507435b
2:233348851 ECEL1 C>G	2	233348851	233348851	C	G	ECEL1	c.1267G>C	NM_004826.4	NP_004817.2:p.(Glu423Gln)	NC_000002.11:g.233348851C>G	(Likely) benign	2 labs	22cbb83bee
19:1395487 NDUFS7 G>GCGC	19	1395487	1395507	G	GCGC	NDUFS7	c.*18_*20dup	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1395505_1395507dup	(Likely) benign	3 labs	22eb544506
2:189875538 COL3A1 G>A	2	189875538	189875538	G	A	COL3A1	c.4176G>A	NM_000090.4	NP_000081.2:p.(Leu1392=)	NC_000002.11:g.189875538G>A	(Likely) benign	2 labs	22d60fc861
6:135786977 AHI1 G>A	6	135786977	135786977	G	A	AHI1	c.724C>T	NM_001350503.2	NP_001337432.1:p.(Pro242Ser)	NC_000006.11:g.135786977G>A	(Likely) benign	3 labs	22effad816
10:73499446 CDH23 A>G	10	73499446	73499446	A	G	CDH23	c.4405A>G	NM_022124.6	NP_071407.4:p.(Ile1469Val)	NC_000010.10:g.73499446A>G	VUS	3 labs	22f0086672
2:64139470 VPS54 A>T	2	64139470	64139470	A	T	VPS54	c.2625+9T>A	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64139470A>T	(Likely) benign	2 labs	22f43b38fb
15:77046287 SCAPER C>T	15	77046287	77046287	C	T	SCAPER	c.1746G>A	NM_001353009.2	NP_001339938.1:p.(Glu582=)	NC_000015.9:g.77046287C>T	(Likely) benign	2 labs	23091e3d49
2:179458600 TTN GA>G	2	179458600	179458610	GA	G	TTN	c.58433-7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458610del	(Likely) benign	2 labs	2321d84d53
17:10543385 MYH3 T>C	17	10543385	10543385	T	C	MYH3	c.2610A>G	NM_002470.4	NP_002461.2:p.(Lys870=)	NC_000017.10:g.10543385T>C	(Likely) benign	2 labs	2327e686e1
11:68154016 LRP5 C>T	11	68154016	68154016	C	T	LRP5	c.1248C>T	NM_002335.4	NP_002326.2:p.(Asn416=)	NC_000011.9:g.68154016C>T	(Likely) benign	2 labs	232eb10c6e
12:2764342 CACNA1C C>T	12	2764342	2764342	C	T	CACNA1C	c.4170C>T	NM_001167623.2	NP_001161095.1:p.(Thr1390=)	NC_000012.11:g.2764342C>T	(Likely) benign	2 labs	234b93c9a6
10:92675597 ANKRD1 TG>T	10	92675597	92675599	TG	T	ANKRD1	c.691del	NM_014391.3	NP_055206.2:p.(His231ThrfsTer30)	NC_000010.10:g.92675599del	VUS	2 labs	235a484013
11:108121599 ATM G>A	11	108121599	108121599	G	A	ATM	c.1407G>A	NM_000051.4	NP_000042.3:p.(Arg469=)	NC_000011.9:g.108121599G>A	(Likely) benign	2 labs	236459bb1e
1:3328903 PRDM16 G>A	1	3328903	3328903	G	A	PRDM16	c.2142G>A	NM_022114.4	NP_071397.3:p.(Lys714=)	NC_000001.10:g.3328903G>A	(Likely) benign	5 labs	2361bf39df
11:47367887 MYBPC3 C>T	11	47367887	47367887	C	T	MYBPC3	c.961G>A	NM_000256.3	NP_000247.2:p.(Val321Met)	NC_000011.9:g.47367887C>T	(Likely) benign	4 labs	2364cb7957
1:196646760 CFH C>T	1	196646760	196646760	C	T	CFH	c.582C>T	NM_000186.4	NP_000177.2:p.(Asp194=)	NC_000001.10:g.196646760C>T	(Likely) benign	2 labs	2370d6b96d
14:102484914 DYNC1H1 G>A	14	102484914	102484914	G	A	DYNC1H1	c.8304G>A	NM_001376.5	NP_001367.2:p.(Pro2768=)	NC_000014.8:g.102484914G>A	(Likely) benign	2 labs	2377871732
2:15694164 NBAS T>TA	2	15694164	15694165	T	TA	NBAS	c.287+20_287+21insT	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15694164_15694165insA	(Likely) benign	2 labs	2389beb689
18:29125935 DSG2 T>C	18	29125935	29125935	T	C	DSG2	c.2586T>C	NM_001943.5	NP_001934.2:p.(Ser862=)	NC_000018.9:g.29125935T>C	(Likely) benign	3 labs	2394557477
13:111137240 COL4A2 A>G	13	111137240	111137240	A	G	COL4A2	c.2903-12A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111137240A>G	(Likely) benign	2 labs	2394fba5e5
1:3328279 PRDM16 G>A	1	3328279	3328279	G	A	PRDM16	c.1518G>A	NM_022114.4	NP_071397.3:p.(Thr506=)	NC_000001.10:g.3328279G>A	(Likely) benign	3 labs	239988a8c8
16:88802586 PIEZO1 G>T	16	88802586	88802586	G	T	PIEZO1	c.1527C>A	NM_001142864.4	NP_001136336.2:p.(Thr509=)	NC_000016.9:g.88802586G>T	(Likely) benign	2 labs	2399a29524
5:89979833 ADGRV1 C>T	5	89979833	89979833	C	T	ADGRV1	c.6095C>T	NM_032119.4	NP_115495.3:p.(Ala2032Val)	NC_000005.9:g.89979833C>T	(Likely) benign	2 labs	239b1949ee
14:74991855 LTBP2 A>G	14	74991855	74991855	A	G	LTBP2	c.2502T>C	NM_000428.3	NP_000419.1:p.(Thr834=)	NC_000014.8:g.74991855A>G	(Likely) benign	2 labs	23a5408ae9
2:8873731 KIDINS220 G>C	2	8873731	8873731	G	C	KIDINS220	c.3896C>G	NM_020738.4	NP_065789.1:p.(Ala1299Gly)	NC_000002.11:g.8873731G>C	(Likely) benign	2 labs	23bcce7d24
15:23891909 MAGEL2 AGCCATCGGCTGTGCAGGTGGG>A	15	23891909	23891954	AGCCATCGGCTGTGCAGGTGGG	A	MAGEL2	c.960_980del	NM_019066.5	NP_061939.3:p.(Pro321_Ala327del)	NC_000015.9:g.23891934_23891954del	(Likely) benign	3 labs	23bd9ca225
17:7750177 KDM6B T>TACC	17	7750177	7750216	T	TACC	KDM6B	c.789_791dup	NM_001080424.2	NP_001073893.1:p.(Pro264dup)	NC_000017.10:g.7750214_7750216dup	(Likely) benign	3 labs	23c49cdd4e
2:179605227 TTN T>G	2	179605227	179605227	T	G	TTN	c.12733A>C	NM_001267550.2	NP_001254479.2:p.(Asn4245His)	NC_000002.11:g.179605227T>G	(Likely) benign	2 labs	23c6c8e33a
4:126241335 FAT4 C>G	4	126241335	126241335	C	G	FAT4	c.3769C>G	NM_001291303.3	NP_001278232.1:p.(Gln1257Glu)	NC_000004.11:g.126241335C>G	(Likely) benign	2 labs	23cdbe9ca2
1:74808620 TNNI3K G>C	1	74808620	74808620	G	C	TNNI3K	c.777G>C	NM_015978.3	NP_057062.1:p.(Leu259Phe)	NC_000001.10:g.74808620G>C	(Likely) benign	4 labs	23d3ae712b
2:73676757 ALMS1 C>G	2	73676757	73676757	C	G	ALMS1	c.3106C>G	NM_015120.4	NP_055935.4:p.(Pro1036Ala)	NC_000002.11:g.73676757C>G	(Likely) benign	2 labs	23e22fc13c
20:56137758 PCK1 C>T	20	56137758	56137758	C	T	PCK1	c.413C>T	NM_002591.4	NP_002582.3:p.(Thr138Ile)	NC_000020.10:g.56137758C>T	(Likely) benign	3 labs	23ecfa8984
3:58124076 FLNB C>T	3	58124076	58124076	C	T	FLNB	c.5022C>T	NM_001164317.2	NP_001157789.1:p.(Ala1674=)	NC_000003.11:g.58124076C>T	(Likely) benign	2 labs	23f0995f38
9:2039776 SMARCA2 A>ACAG	9	2039776	2039817	A	ACAG	SMARCA2	c.705_707dup	NM_003070.5	NP_003061.3:p.(Gln238dup)	NC_000009.11:g.2039815_2039817dup	(Likely) benign	4 labs	23f2331878
11:47360059 MYBPC3 G>A	11	47360059	47360059	G	A	MYBPC3	c.2308+12C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360059G>A	(Likely) benign	3 labs	23f6e3dba7
1:9781304 PIK3CD G>C	1	9781304	9781304	G	C	PIK3CD	c.1809G>C	NM_005026.5	NP_005017.3:p.(Leu603=)	NC_000001.10:g.9781304G>C	(Likely) benign	4 labs	2406fedd4a
12:57963954 KIF5A G>A	12	57963954	57963954	G	A	KIF5A	c.1293+9G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57963954G>A	(Likely) benign	3 labs	24077e5a31
13:32945108 BRCA2 T>C	13	32945108	32945108	T	C	BRCA2	c.8503T>C	NM_000059.4	NP_000050.3:p.(Ser2835Pro)	NC_000013.10:g.32945108T>C	(Likely) benign	6 labs	2408f49cb7
11:31811557 PAX6 G>A	11	31811557	31811557	G	A	PAX6	c.635C>T	NM_001368929.2	NP_001355858.1:p.(Pro212Leu)	NC_000011.9:g.31811557G>A	(Likely) benign	2 labs	2412f5e5ef
9:137698027 COL5A1 C>T	9	137698027	137698027	C	T	COL5A1	c.3259-8C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137698027C>T	(Likely) benign	2 labs	241866bb32
X:64737944 LAS1L G>T	X	64737944	64737944	G	T	LAS1L	c.1850C>A	NM_031206.7	NP_112483.1:p.(Ser617Tyr)	NC_000023.10:g.64737944G>T	(Likely) benign	3 labs	241f35fedc
14:92403446 FBLN5 A>G	14	92403446	92403446	A	G	FBLN5	c.224T>C	NM_006329.4	NP_006320.2:p.(Val75Ala)	NC_000014.8:g.92403446A>G	VUS	2 labs	2420cffd8a
10:74236931 MICU1 C>T	10	74236931	74236931	C	T	MICU1	c.741+1G>A	NM_006077.4	NP_006068.2:p.?	NC_000010.10:g.74236931C>T	(Likely) pathogenic	4 labs	242310840f
14:90450886 TDP1 G>A	14	90450886	90450886	G	A	TDP1	c.911G>A	NM_018319.4	NP_060789.2:p.(Arg304Gln)	NC_000014.8:g.90450886G>A	(Likely) benign	3 labs	2445f3a4af
17:41245280 BRCA1 C>G	17	41245280	41245280	C	G	BRCA1	c.2268G>C	NM_007294.4	NP_009225.1:p.(Arg756Ser)	NC_000017.10:g.41245280C>G	(Likely) benign	3 labs	24560dc719
X:99551442 PCDH19 G>C	X	99551442	99551442	G	C	PCDH19	c.3280C>G	NM_001184880.2	NP_001171809.1:p.(Leu1094Val)	NC_000023.10:g.99551442G>C	(Likely) benign	5 labs	2482d90244
2:21224992 APOB G>A	2	21224992	21224992	G	A	APOB	c.13302C>T	NM_000384.3	NP_000375.3:p.(Ser4434=)	NC_000002.11:g.21224992G>A	(Likely) benign	2 labs	247eb24d3b
2:21249716 APOB C>T	2	21249716	21249716	C	T	APOB	c.2188G>A	NM_000384.3	NP_000375.3:p.(Val730Ile)	NC_000002.11:g.21249716C>T	(Likely) benign	2 labs	248c2105b4
1:3327938 PRDM16 G>C	1	3327938	3327938	G	C	PRDM16	c.1187-10G>C	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3327938G>C	(Likely) benign	2 labs	24865e287c
8:30998956 WRN G>A	8	30998956	30998956	G	A	WRN	c.2978G>A	NM_000553.6	NP_000544.2:p.(Arg993His)	NC_000008.10:g.30998956G>A	VUS	2 labs	24885634c0
4:6303769 WFS1 G>A	4	6303769	6303769	G	A	WFS1	c.2247G>A	NM_006005.3	NP_005996.2:p.(Thr749=)	NC_000004.11:g.6303769G>A	(Likely) benign	2 labs	248dbac770
X:38145411 RPGR C>T	X	38145411	38145411	C	T	RPGR	c.2841G>A	NM_001034853.2	NP_001030025.1:p.(Glu947=)	NC_000023.10:g.38145411C>T	(Likely) benign	2 labs	2490102788
5:138269550 CTNNA1 G>C	5	138269550	138269550	G	C	CTNNA1	c.2493G>C	NM_001903.5	NP_001894.2:p.(Gln831His)	NC_000005.9:g.138269550G>C	VUS	2 labs	2492067a0b
10:88441447 LDB3 G>T	10	88441447	88441447	G	T	LDB3	c.576G>T	NM_001171610.2	NP_001165081.1:p.(Pro192=)	NC_000010.10:g.88441447G>T	(Likely) benign	3 labs	24985a9d37
12:57569339 LRP1 G>A	12	57569339	57569339	G	A	LRP1	c.3644G>A	NM_002332.3	NP_002323.2:p.(Gly1215Glu)	NC_000012.11:g.57569339G>A	(Likely) benign	2 labs	249905872f
11:76909562 MYO7A C>T	11	76909562	76909562	C	T	MYO7A	c.4464C>T	NM_000260.4	NP_000251.3:p.(Asp1488=)	NC_000011.9:g.76909562C>T	(Likely) benign	2 labs	249ba9f361
6:135778861 AHI1 T>C	6	135778861	135778861	T	C	AHI1	c.932-10A>G	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135778861T>C	(Likely) benign	2 labs	249cb2d351
X:153594713 FLNA G>A	X	153594713	153594713	G	A	FLNA	c.1191C>T	NM_001110556.2	NP_001104026.1:p.(Ile397=)	NC_000023.10:g.153594713G>A	(Likely) benign	4 labs	249d5fe7fc
2:73613031 ALMS1 TGGAGGAGGAGGA>T	2	73613031	73613070	TGGAGGAGGAGGA	T	ALMS1	c.63_77del	NM_015120.4	NP_055935.4:p.(Glu25_Glu29del)	NC_000002.11:g.73613059_73613070del	(Likely) benign	3 labs	24a168e0cb
16:88504578 ZNF469 G>A	16	88504578	88504578	G	A	ZNF469	c.10700G>A	NM_001367624.2	NP_001354553.1:p.(Gly3567Glu)	NC_000016.9:g.88504578G>A	(Likely) benign	2 labs	24b697cd50
14:90455445 TDP1 G>A	14	90455445	90455445	G	A	TDP1	c.1317+11G>A	NM_018319.4	NP_060789.2:p.?	NC_000014.8:g.90455445G>A	(Likely) benign	2 labs	24b69b9bca
2:179422531 TTN C>T	2	179422531	179422531	C	T	TTN	c.79846G>A	NM_133378.4	NP_596869.4:p.(Val26616Met)	NC_000002.11:g.179422531C>T	VUS	3 labs	24c0c2e6b8
16:88500687 ZNF469 C>A	16	88500687	88500687	C	A	ZNF469	c.6809C>A	NM_001367624.2	NP_001354553.1:p.(Ser2270Tyr)	NC_000016.9:g.88500687C>A	VUS	2 labs	24cf8cc355
7:73474825 ELN G>C	7	73474825	73474825	G	C	ELN	c.1741G>C	NM_000501.4	NP_000492.2:p.(Gly581Arg)	NC_000007.13:g.73474825G>C	(Likely) benign	2 labs	24cfd69a52
10:73270927 CDH23 G>A	10	73270927	73270927	G	A	CDH23	c.387G>A	NM_022124.6	NP_071407.4:p.(Ala129=)	NC_000010.10:g.73270927G>A	(Likely) benign	2 labs	24d3d071d3
2:179469985 TTN TC>T	2	179469985	179469987	TC	T	TTN	c.53918del	NM_001267550.2	NP_001254479.2:p.(Gly17973GlufsTer18)	NC_000002.11:g.179469987del	(Likely) pathogenic	4 labs	24d6fbe1af
16:28499966 CLN3 C>T	16	28499966	28499966	C	T	CLN3	c.20G>A	NM_001286105.2	NP_001273034.1:p.(Arg7His)	NC_000016.9:g.28499966C>T	(Likely) benign	3 labs	24e278bd72
7:21840853 DNAH11 C>G	7	21840853	21840853	C	G	DNAH11	c.10125C>G	NM_001277115.2	NP_001264044.1:p.(Thr3375=)	NC_000007.13:g.21840853C>G	(Likely) benign	2 labs	24e2f2115c
19:55670784 DNAAF3 C>CT	19	55670784	55670785	C	CT	DNAAF3	c.1109dup	NM_001256716.2	NP_001243645.1:p.(Phe372IlefsTer52)	NC_000019.9:g.55670785dup	(Likely) pathogenic	2 labs	24e3ebee52
4:170345893 NEK1 C>T	4	170345893	170345893	C	T	NEK1	c.3033G>A	NM_001199397.3	NP_001186326.1:p.(Pro1011=)	NC_000004.11:g.170345893C>T	(Likely) benign	2 labs	24e4bd88d3
8:68089904 CSPP1 A>G	8	68089904	68089904	A	G	CSPP1	c.2060-11A>G	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68089904A>G	(Likely) benign	2 labs	24e7750dc3
1:61872228 NFIA C>CT	1	61872228	61872229	C	CT	NFIA	c.1255-6_1255-5insT	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872228_61872229insT	(Likely) benign	3 labs	24ecdec28a
3:97503683 ARL6 T>C	3	97503683	97503683	T	C	ARL6	c.255-116T>C	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97503683T>C	(Likely) benign	2 labs	24fa2a903a
1:235969259 LYST A>G	1	235969259	235969259	A	G	LYST	c.3177T>C	NM_001301365.1	NP_001288294.1:p.(Ala1059=)	NC_000001.10:g.235969259A>G	(Likely) benign	2 labs	24fbdf6da6
7:140449165 BRAF A>C	7	140449165	140449165	A	C	BRAF	c.1914T>G	NM_004333.6	NP_004324.2:p.(Asp638Glu)	NC_000007.13:g.140449165A>C	(Likely) pathogenic	3 labs	250b0d7f51
4:996888 IDUA C>T	4	996888	996888	C	T	IDUA	c.1467C>T	NM_000203.5	NP_000194.2:p.(Arg489=)	NC_000004.11:g.996888C>T	(Likely) benign	4 labs	251b373c1a
6:32017776 TNXB C>T	6	32017776	32017776	C	T	TNXB	c.9432G>A	NM_019105.8	NP_061978.6:p.(Thr3144=)	NC_000006.11:g.32017776C>T	(Likely) benign	2 labs	2520bb5d2c
2:227663346 IRS1 C>T	2	227663346	227663346	C	T	IRS1	c.109G>A	NM_005544.3	NP_005535.1:p.(Glu37Lys)	NC_000002.11:g.227663346C>T	(Likely) benign	2 labs	2531751244
10:73558133 CDH23 G>C	10	73558133	73558133	G	C	CDH23	c.6852G>C	NM_022124.6	NP_071407.4:p.(Leu2284=)	NC_000010.10:g.73558133G>C	(Likely) benign	3 labs	2531a65578
7:42066026 GLI3 T>TA	7	42066026	42066033	T	TA	GLI3	c.1029-16dup	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42066033dup	(Likely) benign	2 labs	253fff9a32
14:102486364 DYNC1H1 A>G	14	102486364	102486364	A	G	DYNC1H1	c.8478A>G	NM_001376.5	NP_001367.2:p.(Ala2826=)	NC_000014.8:g.102486364A>G	(Likely) benign	2 labs	2543dd2dfd
2:179398591 TTN T>C	2	179398591	179398591	T	C	TTN	c.102751A>G	NM_001267550.2	NP_001254479.2:p.(Met34251Val)	NC_000002.11:g.179398591T>C	(Likely) benign	4 labs	2549c22b8f
11:47364128 MYBPC3 C>T	11	47364128	47364128	C	T	MYBPC3	c.1624+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364128C>T	(Likely) pathogenic	2 labs	25665a7afc
2:44051519 ABCG5 G>A	2	44051519	44051519	G	A	ABCG5	c.957C>T	NM_022436.3	NP_071881.1:p.(Ser319=)	NC_000002.11:g.44051519G>A	(Likely) benign	3 labs	254ecab548
2:220285295 DES G>GC	2	220285295	220285297	G	GC	DES	c.816dup	NM_001927.4	NP_001918.3:p.(Ala273ArgfsTer10)	NC_000002.11:g.220285297dup	(Likely) pathogenic	2 labs	255cc716de
17:56772341 RAD51C A>G	17	56772341	56772341	A	G	RAD51C	c.195A>G	NM_058216.3	NP_478123.1:p.(Arg65=)	NC_000017.10:g.56772341A>G	(Likely) benign	6 labs	256abb5aa0
15:73615531 HCN4 G>A	15	73615531	73615531	G	A	HCN4	c.2903C>T	NM_005477.3	NP_005468.1:p.(Pro968Leu)	NC_000015.9:g.73615531G>A	VUS	2 labs	256c483c6c
11:108121572 ATM G>C	11	108121572	108121572	G	C	ATM	c.1380G>C	NM_000051.4	NP_000042.3:p.(Thr460=)	NC_000011.9:g.108121572G>C	(Likely) benign	5 labs	2571388193
2:179594617 TTN C>T	2	179594617	179594617	C	T	TTN	c.18363G>A	NM_001267550.2	NP_001254479.2:p.(Gln6121=)	NC_000002.11:g.179594617C>T	(Likely) benign	3 labs	25714426e3
16:15802695 MYH11 C>G	16	15802695	15802695	C	G	MYH11	c.5811G>C	NM_001040113.2	NP_001035202.1:p.(Gly1937=)	NC_000016.9:g.15802695C>G	(Likely) benign	2 labs	2575433f42
1:110153101 GNAT2 G>A	1	110153101	110153101	G	A	GNAT2	c.147C>T	NM_005272.5	NP_005263.1:p.(Ile49=)	NC_000001.10:g.110153101G>A	(Likely) benign	3 labs	25780d51f3
16:15802687 MYH11 G>C	16	15802687	15802687	G	C	MYH11	c.5819C>G	NM_001040113.2	NP_001035202.1:p.(Pro1940Arg)	NC_000016.9:g.15802687G>C	(Likely) benign	3 labs	257e6e43e0
8:96281243 CFAP418 A>C	8	96281243	96281243	A	C	CFAP418	c.155+20T>G	NM_177965.4	NP_808880.1:p.?	NC_000008.10:g.96281243A>C	(Likely) benign	2 labs	25925243bd
1:43392895 SLC2A1 G>A	1	43392895	43392895	G	A	SLC2A1	c.1296C>T	NM_006516.4	NP_006507.2:p.(Tyr432=)	NC_000001.10:g.43392895G>A	(Likely) benign	3 labs	2598093f87
10:112581639 RBM20 C>G	10	112581639	112581639	C	G	RBM20	c.3262C>G	NM_001134363.3	NP_001127835.2:p.(Pro1088Ala)	NC_000010.10:g.112581639C>G	VUS	2 labs	259e16195b
6:42689558 PRPH2 C>T	6	42689558	42689558	C	T	PRPH2	c.515G>A	NM_000322.5	NP_000313.2:p.(Arg172Gln)	NC_000006.11:g.42689558C>T	(Likely) pathogenic	2 labs	25a1293817
4:47939480 CNGA1 C>T	4	47939480	47939480	C	T	CNGA1	c.1019G>A	NM_001142564.2	NP_001136036.2:p.(Arg340His)	NC_000004.11:g.47939480C>T	(Likely) benign	2 labs	25a923f426
10:75855427 VCL C>A	10	75855427	75855427	C	A	VCL	c.1557C>A	NM_014000.3	NP_054706.1:p.(Ile519=)	NC_000010.10:g.75855427C>A	(Likely) benign	4 labs	25ada7006e
9:107620797 ABCA1 A>G	9	107620797	107620797	A	G	ABCA1	c.720+6T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620797A>G	(Likely) benign	2 labs	25b19d7c4f
2:241660428 KIF1A G>A	2	241660428	241660428	G	A	KIF1A	c.4771C>T	NM_001244008.2	NP_001230937.1:p.(Arg1591Trp)	NC_000002.11:g.241660428G>A	VUS	2 labs	25bbc223f4
3:38949428 SCN11A G>A	3	38949428	38949428	G	A	SCN11A	c.1473+12C>T	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38949428G>A	(Likely) benign	2 labs	25bde54c6e
16:68867187 CDH1 C>G	16	68867187	68867187	C	G	CDH1	c.2440-6C>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68867187C>G	(Likely) benign	4 labs	25c0513a57
2:179597258 TTN A>G	2	179597258	179597258	A	G	TTN	c.16530T>C	NM_001267550.2	NP_001254479.2:p.(Tyr5510=)	NC_000002.11:g.179597258A>G	(Likely) benign	2 labs	25d6eb0fb1
17:59876531 BRIP1 T>C	17	59876531	59876531	T	C	BRIP1	c.1270A>G	NM_032043.3	NP_114432.2:p.(Ser424Gly)	NC_000017.10:g.59876531T>C	VUS	2 labs	25de7c781b
X:66765158 AR T>TGCAGCAGCA	X	66765158	66765227	T	TGCAGCAGCA	AR	c.231_239dup	NM_000044.6	NP_000035.2:p.(Gln78_Gln80dup)	NC_000023.10:g.66765219_66765227dup	(Likely) benign	4 labs	25e596ac02
7:92147359 PEX1 G>A	7	92147359	92147359	G	A	PEX1	c.-152-3C>T	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92147359G>A	(Likely) benign	3 labs	25eb8193e7
7:151257665 PRKAG2 A>G	7	151257665	151257665	A	G	PRKAG2	c.1623T>C	NM_016203.4	NP_057287.2:p.(Ile541=)	NC_000007.13:g.151257665A>G	(Likely) benign	3 labs	25ec33e9ab
3:38798317 SCN10A C>T	3	38798317	38798317	C	T	SCN10A	c.1138G>A	NM_006514.4	NP_006505.4:p.(Val380Ile)	NC_000003.11:g.38798317C>T	VUS	2 labs	25f1bb6255
8:145001512 PLEC T>C	8	145001512	145001512	T	C	PLEC	c.4168-9A>G	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145001512T>C	(Likely) benign	2 labs	25f5f735e3
3:38622602 SCN5A C>T	3	38622602	38622602	C	T	SCN5A	c.3048G>A	NM_198056.3	NP_932173.1:p.(Thr1016=)	NC_000003.11:g.38622602C>T	(Likely) benign	2 labs	2608da0a78
X:153580977 FLNA C>T	X	153580977	153580977	C	T	FLNA	c.6446G>A	NM_001110556.2	NP_001104026.1:p.(Arg2149Gln)	NC_000023.10:g.153580977C>T	(Likely) benign	2 labs	2609ea4998
1:12009955 PLOD1 C>T	1	12009955	12009955	C	T	PLOD1	c.294C>T	NM_000302.4	NP_000293.2:p.(Phe98=)	NC_000001.10:g.12009955C>T	(Likely) benign	2 labs	260b35b2c5
13:32944621 BRCA2 T>C	13	32944621	32944621	T	C	BRCA2	c.8414T>C	NM_000059.4	NP_000050.3:p.(Leu2805Ser)	NC_000013.10:g.32944621T>C	VUS	6 labs	2615d8d965
1:227071475 PSEN2 C>T	1	227071475	227071475	C	T	PSEN2	c.211C>T	NM_000447.3	NP_000438.2:p.(Arg71Trp)	NC_000001.10:g.227071475C>T	(Likely) benign	2 labs	26118477bf
10:55568878 PCDH15 T>G	10	55568878	55568878	T	G	PCDH15	c.4947A>C	NM_001142769.3	NP_001136241.1:p.(Glu1649Asp)	NC_000010.10:g.55568878T>G	(Likely) benign	2 labs	26161da87d
7:73469098 ELN C>T	7	73469098	73469098	C	T	ELN	c.1149C>T	NM_000501.4	NP_000492.2:p.(Tyr383=)	NC_000007.13:g.73469098C>T	(Likely) benign	5 labs	2622ba3861
X:153608745 EMD C>T	X	153608745	153608745	C	T	EMD	c.399+18C>T	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608745C>T	(Likely) benign	3 labs	2629fbdeec
2:73613031 ALMS1 TGGAGGAGGA>T	2	73613031	73613070	TGGAGGAGGA	T	ALMS1	c.66_77del	NM_015120.4	NP_055935.4:p.(Glu26_Glu29del)	NC_000002.11:g.73613062_73613070del	(Likely) benign	5 labs	262ba9caee
6:70991138 COL9A1 G>T	6	70991138	70991138	G	T	COL9A1	c.831C>A	NM_001851.6	NP_001842.3:p.(Pro277=)	NC_000006.11:g.70991138G>T	(Likely) benign	2 labs	262bea2cd1
8:62557195 ASPH GA>G	8	62557195	62557206	GA	G	ASPH	c.620-5del	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62557206del	(Likely) benign	2 labs	2630a0f5fa
16:2129192 TSC2 G>C	16	2129192	2129192	G	C	TSC2	c.3126G>C	NM_000548.5	NP_000539.2:p.(Pro1042=)	NC_000016.9:g.2129192G>C	(Likely) benign	3 labs	2637391cdd
6:137187853 PEX7 C>T	6	137187853	137187853	C	T	PEX7	c.615C>T	NM_000288.4	NP_000279.1:p.(Asp205=)	NC_000006.11:g.137187853C>T	(Likely) benign	2 labs	264beca554
4:126241871 FAT4 C>T	4	126241871	126241871	C	T	FAT4	c.4305C>T	NM_001291303.3	NP_001278232.1:p.(Ile1435=)	NC_000004.11:g.126241871C>T	(Likely) benign	2 labs	264eb10eac
2:179433908 TTN C>A	2	179433908	179433908	C	A	TTN	c.76951G>T	NM_001267550.2	NP_001254479.2:p.(Val25651Phe)	NC_000002.11:g.179433908C>A	VUS	2 labs	2653399d7d
14:105173288 INF2 G>A	14	105173288	105173288	G	A	INF2	c.885G>A	NM_022489.4	NP_071934.3:p.(Leu295=)	NC_000014.8:g.105173288G>A	(Likely) benign	2 labs	266d4bc8b2
14:95574342 DICER1 AT>A	14	95574342	95574345	AT	A	DICER1	c.2524del	NM_177438.3	NP_803187.1:p.(Met842CysfsTer4)	NC_000014.8:g.95574345del	(Likely) pathogenic	2 labs	266da6cc68
7:42116475 GLI3 C>T	7	42116475	42116475	C	T	GLI3	c.368-19G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42116475C>T	(Likely) benign	2 labs	2672288fce
X:47435581 SYN1 G>A	X	47435581	47435581	G	A	SYN1	c.1107C>T	NM_006950.3	NP_008881.2:p.(Ile369=)	NC_000023.10:g.47435581G>A	(Likely) benign	3 labs	26753e3c71
2:179410758 TTN G>A	2	179410758	179410758	G	A	TTN	c.95205C>T	NM_001267550.2	NP_001254479.2:p.(Asp31735=)	NC_000002.11:g.179410758G>A	(Likely) benign	2 labs	2678f47670
8:94772165 TMEM67 C>T	8	94772165	94772165	C	T	TMEM67	c.107C>T	NM_001142301.1	NP_001135773.1:p.(Pro36Leu)	NC_000008.10:g.94772165C>T	(Likely) benign	3 labs	2693f55e3e
17:41245196 BRCA1 C>T	17	41245196	41245196	C	T	BRCA1	c.2352G>A	NM_007294.4	NP_009225.1:p.(Ser784=)	NC_000017.10:g.41245196C>T	(Likely) benign	5 labs	2696677157
8:10467627 RP1L1 T>C	8	10467627	10467627	T	C	RP1L1	c.3981A>G	NM_178857.6	NP_849188.4:p.(Thr1327=)	NC_000008.10:g.10467627T>C	(Likely) benign	2 labs	26991220eb
11:6415491 SMPD1 A>T	11	6415491	6415491	A	T	SMPD1	c.1550A>T	NM_000543.5	NP_000534.3:p.(Glu517Val)	NC_000011.9:g.6415491A>T	VUS	3 labs	269bc2028c
3:52488009 TNNC1 G>A	3	52488009	52488009	G	A	TNNC1	c.23C>T	NM_003280.3	NP_003271.1:p.(Ala8Val)	NC_000003.11:g.52488009G>A	(Likely) pathogenic	2 labs	26a815912b
15:40457337 BUB1B C>T	15	40457337	40457337	C	T	BUB1B	c.119C>T	NM_001211.6	NP_001202.5:p.(Thr40Met)	NC_000015.9:g.40457337C>T	(Likely) benign	3 labs	26b8dcdf80
8:117864952 RAD21 T>TA	8	117864952	117864966	T	TA	RAD21	c.1162-6dup	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117864966dup	(Likely) benign	2 labs	26bfcc4330
1:66058513 LEPR A>G	1	66058513	66058513	A	G	LEPR	c.668A>G	NM_001003679.3	NP_001003679.1:p.(Gln223Arg)	NC_000001.10:g.66058513A>G	(Likely) benign	2 labs	26c4eb4c8e
1:2235477 SKI C>T	1	2235477	2235477	C	T	SKI	c.1410C>T	NM_003036.4	NP_003027.1:p.(Pro470=)	NC_000001.10:g.2235477C>T	(Likely) benign	2 labs	26c9ed833d
20:57415881 GNAS C>A	20	57415881	57415881	C	A	GNAS	c.720C>A	NM_016592.5	NP_057676.1:p.(Ile240=)	NC_000020.10:g.57415881C>A	(Likely) benign	2 labs	26d2929e7c
17:42882973 GJC1 G>A	17	42882973	42882973	G	A	GJC1	c.213C>T	NM_005497.4	NP_005488.2:p.(Leu71=)	NC_000017.10:g.42882973G>A	(Likely) benign	2 labs	26d8117e30
5:89943504 ADGRV1 G>A	5	89943504	89943504	G	A	ADGRV1	c.3212G>A	NM_032119.4	NP_115495.3:p.(Ser1071Asn)	NC_000005.9:g.89943504G>A	VUS	2 labs	26d88ca297
7:21939006 DNAH11 CTT>C	7	21939006	21939008	CTT	C	DNAH11	c.13103_13104del	NM_001277115.2	NP_001264044.1:p.(Leu4368HisfsTer30)	NC_000007.13:g.21939007_21939008del	(Likely) pathogenic	3 labs	26d9e1b0c3
2:167108385 SCN9A C>T	2	167108385	167108385	C	T	SCN9A	c.3329G>A	NM_002977.3	NP_002968.1:p.(Arg1110Gln)	NC_000002.11:g.167108385C>T	(Likely) benign	3 labs	26dbf039c4
19:16594854 CALR3 GA>G	19	16594854	16594855	GA	G	CALR3	c.564del	NM_145046.5	NP_659483.2:p.(Gln189SerfsTer8)	NC_000019.9:g.16594855del	VUS	5 labs	26d9331757
10:94353214 KIF11 G>C	10	94353214	94353214	G	C	KIF11	c.77+5G>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94353214G>C	(Likely) benign	3 labs	26e1efc356
1:40778463 COL9A2 A>G	1	40778463	40778463	A	G	COL9A2	c.250-7T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40778463A>G	(Likely) benign	3 labs	26e27e9af7
2:179395559 TTN C>T	2	179395559	179395559	C	T	TTN	c.105783G>A	NM_001267550.2	NP_001254479.2:p.(Pro35261=)	NC_000002.11:g.179395559C>T	(Likely) benign	2 labs	26e4897595
1:2234737 SKI T>C	1	2234737	2234737	T	C	SKI	c.1109T>C	NM_003036.4	NP_003027.1:p.(Val370Ala)	NC_000001.10:g.2234737T>C	(Likely) benign	2 labs	26e56edfaa
2:63401820 WDPCP T>C	2	63401820	63401820	T	C	WDPCP	c.2063A>G	NM_015910.7	NP_056994.3:p.(Asn688Ser)	NC_000002.11:g.63401820T>C	(Likely) benign	4 labs	26ec0c921e
11:47360231 MYBPC3 CT>C	11	47360231	47360232	CT	C	MYBPC3	c.2149-2del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360232del	(Likely) pathogenic	3 labs	26f10be2aa
19:30199183 C19orf12 G>A	19	30199183	30199183	G	A	C19orf12	c.171C>T	NM_001031726.3	NP_001026896.2:p.(Gly57=)	NC_000019.9:g.30199183G>A	(Likely) benign	2 labs	26f13e0d96
7:81620579 CACNA2D1 C>T	7	81620579	81620579	C	T	CACNA2D1	c.1735-17G>A	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81620579C>T	(Likely) benign	2 labs	26fcfcd2e1
19:33892731 PEPD A>G	19	33892731	33892731	A	G	PEPD	c.863T>C	NM_000285.4	NP_000276.2:p.(Ile288Thr)	NC_000019.9:g.33892731A>G	(Likely) benign	2 labs	26fdd1099e
17:59857686 BRIP1 G>T	17	59857686	59857686	G	T	BRIP1	c.1871C>A	NM_032043.3	NP_114432.2:p.(Ser624Ter)	NC_000017.10:g.59857686G>T	(Likely) pathogenic	5 labs	271973aed8
2:179614349 TTN C>T	2	179614349	179614349	C	T	TTN	c.12778G>A	NM_133379.5	NP_596870.2:p.(Glu4260Lys)	NC_000002.11:g.179614349C>T	(Likely) benign	2 labs	27146bb4b3
11:68193582 LRP5 G>A	11	68193582	68193582	G	A	LRP5	c.3564G>A	NM_002335.4	NP_002326.2:p.(Arg1188=)	NC_000011.9:g.68193582G>A	(Likely) benign	2 labs	271519d826
20:54824556 MC3R G>C	20	54824556	54824556	G	C	MC3R	c.657G>C	NM_019888.3	NP_063941.3:p.(Lys219Asn)	NC_000020.10:g.54824556G>C	VUS	2 labs	2718b433e4
2:220082505 ABCB6 G>A	2	220082505	220082505	G	A	ABCB6	c.574C>T	NM_005689.4	NP_005680.1:p.(Arg192Trp)	NC_000002.11:g.220082505G>A	VUS	2 labs	271dabe03a
1:235850245 LYST C>A	1	235850245	235850245	C	A	LYST	c.10800+4G>T	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235850245C>A	(Likely) benign	3 labs	2720949e44
17:78175608 CARD14 C>T	17	78175608	78175608	C	T	CARD14	c.1917C>T	NM_024110.4	NP_077015.2:p.(Ala639=)	NC_000017.10:g.78175608C>T	(Likely) benign	2 labs	272496b1fa
1:214557998 PTPN14 C>T	1	214557998	214557998	C	T	PTPN14	c.1200G>A	NM_005401.5	NP_005392.2:p.(Ser400=)	NC_000001.10:g.214557998C>T	(Likely) benign	2 labs	272bce82d8
12:8995966 A2ML1 G>A	12	8995966	8995966	G	A	A2ML1	c.1476+9G>A	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8995966G>A	(Likely) benign	2 labs	272cc15eec
15:48786451 FBN1 T>C	15	48786451	48786451	T	C	FBN1	c.2678A>G	NM_000138.5	NP_000129.3:p.(Asp893Gly)	NC_000015.9:g.48786451T>C	VUS	2 labs	272de64d88
8:145740619 RECQL4 C>T	8	145740619	145740619	C	T	RECQL4	c.1398G>A	NM_004260.4	NP_004251.4:p.(Pro466=)	NC_000008.10:g.145740619C>T	(Likely) benign	3 labs	273e50f96f
10:92678744 ANKRD1 A>T	10	92678744	92678744	A	T	ANKRD1	c.346-15T>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744A>T	(Likely) benign	2 labs	273e5cb3fc
1:237947000 RYR2 C>T	1	237947000	237947000	C	T	RYR2	c.11988C>T	NM_001035.3	NP_001026.2:p.(Gly3996=)	NC_000001.10:g.237947000C>T	(Likely) benign	4 labs	2741fb3df6
1:45479709 UROD A>G	1	45479709	45479709	A	G	UROD	c.603A>G	NM_000374.5	NP_000365.3:p.(Pro201=)	NC_000001.10:g.45479709A>G	(Likely) benign	2 labs	274bbaf245
3:81698130 GBE1 T>C	3	81698130	81698130	T	C	GBE1	c.568A>G	NM_000158.4	NP_000149.4:p.(Arg190Gly)	NC_000003.11:g.81698130T>C	(Likely) benign	4 labs	275916d5bf
17:74536272 PRCD C>T	17	74536272	74536272	C	T	PRCD	c.49C>T	NM_001077620.3	NP_001071088.1:p.(Arg17Cys)	NC_000017.10:g.74536272C>T	(Likely) benign	2 labs	278c0b0ae7
15:45398750 DUOX2 C>T	15	45398750	45398750	C	T	DUOX2	c.1921G>A	NM_001363711.2	NP_001350640.1:p.(Glu641Lys)	NC_000015.9:g.45398750C>T	(Likely) benign	2 labs	278d5b2021
10:69961759 MYPN A>G	10	69961759	69961759	A	G	MYPN	c.3659+8A>G	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69961759A>G	(Likely) benign	4 labs	279018453a
5:149515219 PDGFRB G>A	5	149515219	149515219	G	A	PDGFRB	c.263C>T	NM_002609.4	NP_002600.1:p.(Thr88Ile)	NC_000005.9:g.149515219G>A	(Likely) benign	2 labs	2793a163cf
7:128475596 FLNC C>T	7	128475596	128475596	C	T	FLNC	c.569C>T	NM_001458.5	NP_001449.3:p.(Ala190Val)	NC_000007.13:g.128475596C>T	VUS	2 labs	27986223c2
14:105179184 INF2 G>A	14	105179184	105179184	G	A	INF2	c.2630G>A	NM_022489.4	NP_071934.3:p.(Arg877Gln)	NC_000014.8:g.105179184G>A	(Likely) benign	2 labs	279c0b40f6
16:53679547 RPGRIP1L C>T	16	53679547	53679547	C	T	RPGRIP1L	c.2673G>A	NM_001330538.2	NP_001317467.1:p.(Arg891=)	NC_000016.9:g.53679547C>T	(Likely) benign	2 labs	279f038d79
17:41245188 BRCA1 T>TC	17	41245188	41245190	T	TC	BRCA1	c.2359dup	NM_007294.4	NP_009225.1:p.(Glu787GlyfsTer3)	NC_000017.10:g.41245190dup	(Likely) pathogenic	3 labs	27acb221eb
13:32900272 BRCA2 CAA>C	13	32900272	32900275	CAA	C	BRCA2	c.462_463del	NM_000059.4	NP_000050.3:p.(Asp156Ter)	NC_000013.10:g.32900274_32900275del	(Likely) pathogenic	4 labs	27a9086874
4:114213561 ANK2 G>A	4	114213561	114213561	G	A	ANK2	c.2278-11G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114213561G>A	(Likely) benign	3 labs	27b438aca9
6:65098735 EYS T>C	6	65098735	65098735	T	C	EYS	c.5928-2A>G	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65098735T>C	(Likely) pathogenic	3 labs	27bb6d86fa
16:3646180 SLX4 C>T	16	3646180	3646180	C	T	SLX4	c.1898G>A	NM_032444.4	NP_115820.2:p.(Gly633Asp)	NC_000016.9:g.3646180C>T	(Likely) benign	2 labs	27c224d585
8:144991428 PLEC G>A	8	144991428	144991428	G	A	PLEC	c.12972C>T	NM_201380.4	NP_958782.1:p.(Asp4324=)	NC_000008.10:g.144991428G>A	(Likely) benign	2 labs	27c55ec8a4
11:1651228 KRTAP5-5 C>CTGTGGGGGCTGTGGCTCCGGCTGTGG	11	1651228	1651229	C	CTGTGGGGGCTGTGGCTCCGGCTGTGG	KRTAP5-5	c.158_159insTGTGGGGGCTGTGGCTCCGGCTGTGG	NM_001001480.2	NP_001001480.2:p.(Gly54ValfsTer206)	NC_000011.9:g.1651228_1651229insTGTGGGGGCTGTGGCTCCGGCTGTGG	(Likely) benign	2 labs	27c90f6ba3
19:10930668 DNM2 A>G	19	10930668	10930668	A	G	DNM2	c.1684A>G	NM_001005360.3	NP_001005360.1:p.(Lys562Glu)	NC_000019.9:g.10930668A>G	(Likely) pathogenic	2 labs	27c9bfc7d5
7:107533650 DLD C>G	7	107533650	107533650	C	G	DLD	c.45C>G	NM_000108.5	NP_000099.2:p.(Gly15=)	NC_000007.13:g.107533650C>G	(Likely) benign	2 labs	27d4d2950b
19:40909664 PRX G>C	19	40909664	40909664	G	C	PRX	c.133C>G	NM_020956.2	NP_066007.1:p.(Arg45Gly)	NC_000019.9:g.40909664G>C	(Likely) benign	2 labs	27da85c0a9
5:89969880 ADGRV1 A>G	5	89969880	89969880	A	G	ADGRV1	c.4939A>G	NM_032119.4	NP_115495.3:p.(Ile1647Val)	NC_000005.9:g.89969880A>G	(Likely) benign	3 labs	27db147d81
11:66294277 BBS1 C>T	11	66294277	66294277	C	T	BBS1	c.1338C>T	NM_024649.5	NP_078925.3:p.(Thr446=)	NC_000011.9:g.66294277C>T	(Likely) benign	3 labs	27de85c12a
18:67692025 RTTN C>T	18	67692025	67692025	C	T	RTTN	c.5883G>A	NM_173630.4	NP_775901.3:p.(Leu1961=)	NC_000018.9:g.67692025C>T	(Likely) benign	2 labs	27e24d241b
2:189863449 COL3A1 T>C	2	189863449	189863449	T	C	COL3A1	c.2022+5T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863449T>C	(Likely) benign	2 labs	27f43a5b8b
20:10630198 JAG1 G>A	20	10630198	10630198	G	A	JAG1	c.1320C>T	NM_000214.3	NP_000205.1:p.(Pro440=)	NC_000020.10:g.10630198G>A	(Likely) benign	2 labs	27f85c0ea6
11:47371484 MYBPC3 AG>A	11	47371484	47371488	AG	A	MYBPC3	c.506-12del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371488del	(Likely) benign	4 labs	28023f4951
11:65639799 EFEMP2 G>C	11	65639799	65639799	G	C	EFEMP2	c.27C>G	NM_016938.5	NP_058634.4:p.(Pro9=)	NC_000011.9:g.65639799G>C	(Likely) benign	2 labs	280d55317e
17:4802593 CHRNE C>A	17	4802593	4802593	C	A	CHRNE	c.1119G>T	NM_000080.4	NP_000071.1:p.(Ser373=)	NC_000017.10:g.4802593C>A	(Likely) benign	2 labs	280fdcb6f8
12:110232284 TRPV4 G>A	12	110232284	110232284	G	A	TRPV4	c.1341C>T	NM_021625.5	NP_067638.3:p.(His447=)	NC_000012.11:g.110232284G>A	(Likely) benign	2 labs	2810cf7b46
15:48725078 FBN1 G>A	15	48725078	48725078	G	A	FBN1	c.6724C>T	NM_000138.5	NP_000129.3:p.(Arg2242Cys)	NC_000015.9:g.48725078G>A	VUS	3 labs	28271b0244
12:56631012 SLC39A5 G>C	12	56631012	56631012	G	C	SLC39A5	c.1367G>C	NM_173596.3	NP_775867.2:p.(Gly456Ala)	NC_000012.11:g.56631012G>C	(Likely) benign	2 labs	28276d04cf
19:13249098 NACC1 G>A	19	13249098	13249098	G	A	NACC1	c.1462G>A	NM_052876.4	NP_443108.1:p.(Ala488Thr)	NC_000019.9:g.13249098G>A	(Likely) benign	2 labs	282bae26bb
X:38145354 RPGR C>T	X	38145354	38145354	C	T	RPGR	c.2898G>A	NM_001034853.2	NP_001030025.1:p.(Gly966=)	NC_000023.10:g.38145354C>T	(Likely) benign	2 labs	283022d7c2
12:32778611 FGD4 C>G	12	32778611	32778611	C	G	FGD4	c.627C>G	NM_001304484.2	NP_001291413.1:p.(Ala209=)	NC_000012.11:g.32778611C>G	(Likely) benign	2 labs	283490ec07
17:7906529 GUCY2D C>T	17	7906529	7906529	C	T	GUCY2D	c.164C>T	NM_000180.4	NP_000171.1:p.(Thr55Met)	NC_000017.10:g.7906529C>T	(Likely) benign	2 labs	283dd04949
8:68102949 CSPP1 C>T	8	68102949	68102949	C	T	CSPP1	c.2235C>T	NM_001291339.2	NP_001278268.1:p.(Pro745=)	NC_000008.10:g.68102949C>T	(Likely) benign	2 labs	284c860f12
X:39923742 BCOR C>T	X	39923742	39923742	C	T	BCOR	c.3349G>A	NM_001123385.2	NP_001116857.1:p.(Ala1117Thr)	NC_000023.10:g.39923742C>T	(Likely) benign	2 labs	2865632f15
18:29178509 TTR ATCTG>A	18	29178509	29178520	ATCTG	A	TTR	c.337-14_337-11del	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29178517_29178520del	(Likely) benign	2 labs	28671f4505
X:31854852 DMD C>T	X	31854852	31854852	C	T	DMD	c.7183G>A	NM_004006.3	NP_003997.2:p.(Ala2395Thr)	NC_000023.10:g.31854852C>T	(Likely) benign	4 labs	286e4e0870
19:11101993 SMARCA4 G>A	19	11101993	11101993	G	A	SMARCA4	c.1413G>A	NM_001128844.3	NP_001122316.1:p.(Lys471=)	NC_000019.9:g.11101993G>A	(Likely) benign	2 labs	287af7482c
1:235909802 LYST T>C	1	235909802	235909802	T	C	LYST	c.7806A>G	NM_001301365.1	NP_001288294.1:p.(Gln2602=)	NC_000001.10:g.235909802T>C	VUS	2 labs	287ce0ded6
16:57282555 ARL2BP C>T	16	57282555	57282555	C	T	ARL2BP	c.207C>T	NM_012106.4	NP_036238.1:p.(Tyr69=)	NC_000016.9:g.57282555C>T	(Likely) benign	2 labs	287f71a30b
9:4118719 GLIS3 G>A	9	4118719	4118719	G	A	GLIS3	c.759C>T	NM_001042413.2	NP_001035878.1:p.(Ser253=)	NC_000009.11:g.4118719G>A	(Likely) benign	2 labs	2880754f65
1:237774125 RYR2 C>T	1	237774125	237774125	C	T	RYR2	c.4747C>T	NM_001035.3	NP_001026.2:p.(Pro1583Ser)	NC_000001.10:g.237774125C>T	VUS	3 labs	2882538538
8:100836215 VPS13B A>G	8	100836215	100836215	A	G	VPS13B	c.9405+9A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100836215A>G	(Likely) benign	3 labs	288cb9b2c3
X:119590616 LAMP2 G>A	X	119590616	119590616	G	A	LAMP2	c.73C>T	NM_002294.3	NP_002285.1:p.(Arg25Trp)	NC_000023.10:g.119590616G>A	VUS	2 labs	2892449b37
17:44067400 MAPT T>C	17	44067400	44067400	T	C	MAPT	c.1339T>C	NM_001123066.4	NP_001116538.2:p.(Ser447Pro)	NC_000017.10:g.44067400T>C	(Likely) benign	2 labs	289bd6c5b1
2:202498081 TMEM237 C>T	2	202498081	202498081	C	T	TMEM237	c.324G>A	NM_152388.4	NP_689601.2:p.(Ala108=)	NC_000002.11:g.202498081C>T	(Likely) benign	3 labs	28a7657dc6
7:128494257 FLNC C>T	7	128494257	128494257	C	T	FLNC	c.6714C>T	NM_001458.5	NP_001449.3:p.(Thr2238=)	NC_000007.13:g.128494257C>T	(Likely) benign	2 labs	28c6656fbf
19:10870493 DNM2 A>G	19	10870493	10870493	A	G	DNM2	c.235+6A>G	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10870493A>G	(Likely) benign	3 labs	28c75fc66e
11:76890940 MYO7A G>A	11	76890940	76890940	G	A	MYO7A	c.2527G>A	NM_000260.4	NP_000251.3:p.(Val843Met)	NC_000011.9:g.76890940G>A	VUS	3 labs	28c76069cd
8:55541738 RP1 A>C	8	55541738	55541738	A	C	RP1	c.5296A>C	NM_006269.2	NP_006260.1:p.(Asn1766His)	NC_000008.10:g.55541738A>C	(Likely) benign	2 labs	28c9da1714
8:61654298 CHD7 T>A	8	61654298	61654298	T	A	CHD7	c.307T>A	NM_017780.4	NP_060250.2:p.(Ser103Thr)	NC_000008.10:g.61654298T>A	(Likely) benign	4 labs	28cc82a1ff
9:139405093 NOTCH1 G>A	9	139405093	139405093	G	A	NOTCH1	c.2740+12C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405093G>A	(Likely) benign	2 labs	28ccb02c8d
2:212587119 ERBB4 T>C	2	212587119	212587119	T	C	ERBB4	c.882A>G	NM_005235.3	NP_005226.1:p.(Pro294=)	NC_000002.11:g.212587119T>C	(Likely) benign	2 labs	28e4fc5d34
15:91347451 BLM G>A	15	91347451	91347451	G	A	BLM	c.3613G>A	NM_000057.4	NP_000048.1:p.(Val1205Ile)	NC_000015.9:g.91347451G>A	(Likely) benign	2 labs	28f3ecc501
15:48762962 FBN1 G>A	15	48762962	48762962	G	A	FBN1	c.4337-9C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48762962G>A	(Likely) benign	2 labs	28f7ba7d15
16:23641681 PALB2 C>T	16	23641681	23641681	C	T	PALB2	c.1794G>A	NM_024675.4	NP_078951.2:p.(Leu598=)	NC_000016.9:g.23641681C>T	(Likely) benign	2 labs	28fcd87d79
3:49692659 BSN C>T	3	49692659	49692659	C	T	BSN	c.5670C>T	NM_003458.4	NP_003449.2:p.(Thr1890=)	NC_000003.11:g.49692659C>T	(Likely) benign	2 labs	28ff606fda
7:150644428 KCNH2 C>A	7	150644428	150644428	C	A	KCNH2	c.3140G>T	NM_000238.4	NP_000229.1:p.(Arg1047Leu)	NC_000007.13:g.150644428C>A	(Likely) benign	4 labs	2902cc7309
13:100888122 PCCA A>G	13	100888122	100888122	A	G	PCCA	c.627A>G	NM_000282.4	NP_000273.2:p.(Ala209=)	NC_000013.10:g.100888122A>G	(Likely) benign	2 labs	2905e2ec2b
4:6302439 WFS1 T>C	4	6302439	6302439	T	C	WFS1	c.917T>C	NM_006005.3	NP_005996.2:p.(Met306Thr)	NC_000004.11:g.6302439T>C	(Likely) benign	2 labs	290bc9223b
20:56140726 PCK1 A>C	20	56140726	56140726	A	C	PCK1	c.1735A>C	NM_002591.4	NP_002582.3:p.(Ser579Arg)	NC_000020.10:g.56140726A>C	(Likely) benign	2 labs	2918981ccd
7:153750071 DPP6 CGCG>C	7	153750071	153750092	CGCG	C	DPP6	c.185_187del	NM_130797.4	NP_570629.2:p.(Gly62del)	NC_000007.13:g.153750090_153750092del	(Likely) benign	2 labs	291fc8aa1b
11:88924445 TYR C>T	11	88924445	88924445	C	T	TYR	c.895C>T	NM_000372.5	NP_000363.1:p.(Arg299Cys)	NC_000011.9:g.88924445C>T	(Likely) pathogenic	2 labs	2923f3bebd
2:48010654 MSH6 C>G	2	48010654	48010654	C	G	MSH6	c.260+22C>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48010654C>G	(Likely) benign	3 labs	292a999dee
8:145003360 PLEC C>T	8	145003360	145003360	C	T	PLEC	c.3582G>A	NM_201380.4	NP_958782.1:p.(Ser1194=)	NC_000008.10:g.145003360C>T	(Likely) benign	3 labs	292dffdafb
5:121413205 LOX G>T	5	121413205	121413205	G	T	LOX	c.476C>A	NM_002317.7	NP_002308.2:p.(Pro159Gln)	NC_000005.9:g.121413205G>T	(Likely) benign	2 labs	2931f4e8e1
9:133884891 LAMC3 A>G	9	133884891	133884891	A	G	LAMC3	c.290A>G	NM_006059.4	NP_006050.3:p.(Gln97Arg)	NC_000009.11:g.133884891A>G	(Likely) benign	4 labs	2933bcbfd7
2:182521668 CERKL G>C	2	182521668	182521668	G	C	CERKL	c.66C>G	NM_001030311.3	NP_001025482.1:p.(Pro22=)	NC_000002.11:g.182521668G>C	(Likely) benign	2 labs	2944f9977d
9:137710863 COL5A1 C>T	9	137710863	137710863	C	T	COL5A1	c.4410C>T	NM_000093.5	NP_000084.3:p.(Pro1470=)	NC_000009.11:g.137710863C>T	(Likely) benign	3 labs	294b3fbbe6
17:7910798 GUCY2D C>T	17	7910798	7910798	C	T	GUCY2D	c.1518C>T	NM_000180.4	NP_000171.1:p.(Thr506=)	NC_000017.10:g.7910798C>T	(Likely) benign	2 labs	2956ef6dcc
1:22211118 HSPG2 C>T	1	22211118	22211118	C	T	HSPG2	c.1560G>A	NM_001291860.2	NP_001278789.1:p.(Leu520=)	NC_000001.10:g.22211118C>T	(Likely) benign	3 labs	295b14aaa5
2:179477717 TTN A>G	2	179477717	179477717	A	G	TTN	c.49731T>C	NM_001267550.2	NP_001254479.2:p.(His16577=)	NC_000002.11:g.179477717A>G	(Likely) benign	3 labs	295f2b13a6
7:128480184 FLNC G>A	7	128480184	128480184	G	A	FLNC	c.1519G>A	NM_001458.5	NP_001449.3:p.(Gly507Arg)	NC_000007.13:g.128480184G>A	(Likely) benign	4 labs	296951ee23
5:138261042 CTNNA1 C>T	5	138261042	138261042	C	T	CTNNA1	c.1845C>T	NM_001903.5	NP_001894.2:p.(Ser615=)	NC_000005.9:g.138261042C>T	(Likely) benign	3 labs	297526ecd6
12:2775936 CACNA1C C>T	12	2775936	2775936	C	T	CACNA1C	c.4611C>T	NM_001167623.2	NP_001161095.1:p.(Arg1537=)	NC_000012.11:g.2775936C>T	(Likely) benign	3 labs	29771e7ef5
15:34544565 SLC12A6 C>T	15	34544565	34544565	C	T	SLC12A6	c.1112G>A	NM_001042496.2	NP_001035961.1:p.(Arg371His)	NC_000015.9:g.34544565C>T	VUS	2 labs	298eda314e
1:66067385 LEPR G>A	1	66067385	66067385	G	A	LEPR	c.1285+20G>A	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66067385G>A	(Likely) benign	2 labs	299624dc84
3:154859862 MME A>G	3	154859862	154859862	A	G	MME	c.1040A>G	NM_007289.4	NP_009220.2:p.(Tyr347Cys)	NC_000003.11:g.154859862A>G	VUS	5 labs	299a9e907b
12:57963802 KIF5A G>C	12	57963802	57963802	G	C	KIF5A	c.1150G>C	NM_004984.4	NP_004975.2:p.(Gly384Arg)	NC_000012.11:g.57963802G>C	(Likely) benign	2 labs	299e0a495a
6:66044874 EYS T>C	6	66044874	66044874	T	C	EYS	c.1765A>G	NM_001292009.2	NP_001278938.1:p.(Arg589Gly)	NC_000006.11:g.66044874T>C	VUS	2 labs	29a3ba9ab4
1:55523127 PCSK9 G>A	1	55523127	55523127	G	A	PCSK9	c.1120G>A	NM_174936.4	NP_777596.2:p.(Asp374Asn)	NC_000001.10:g.55523127G>A	VUS	2 labs	29c05c3e57
13:20763366 GJB2 C>T	13	20763366	20763366	C	T	GJB2	c.355G>A	NM_004004.6	NP_003995.2:p.(Glu119Lys)	NC_000013.10:g.20763366C>T	VUS	3 labs	29c483c5d9
17:62018409 SCN4A G>A	17	62018409	62018409	G	A	SCN4A	c.5233C>T	NM_000334.4	NP_000325.4:p.(Arg1745Cys)	NC_000017.10:g.62018409G>A	VUS	2 labs	29db834207
10:73537617 CDH23 G>A	10	73537617	73537617	G	A	CDH23	c.5026G>A	NM_022124.6	NP_071407.4:p.(Ala1676Thr)	NC_000010.10:g.73537617G>A	(Likely) benign	2 labs	29f9bbdc91
16:15826409 MYH11 AAAAAG>A	16	15826409	15826414	AAAAAG	A	MYH11	c.3672+7_3672+11del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15826410_15826414del	(Likely) benign	2 labs	29eaf88611
17:79503213 FSCN2 G>A	17	79503213	79503213	G	A	FSCN2	c.1025G>A	NM_001077182.3	NP_001070650.1:p.(Arg342Gln)	NC_000017.10:g.79503213G>A	VUS	2 labs	29ef1b3256
11:65321729 LTBP3 C>T	11	65321729	65321729	C	T	LTBP3	c.454G>A	NM_001130144.3	NP_001123616.1:p.(Gly152Ser)	NC_000011.9:g.65321729C>T	(Likely) benign	2 labs	29fd197fba
3:148919962 CP A>G	3	148919962	148919962	A	G	CP	c.1275T>C	NM_000096.4	NP_000087.2:p.(Tyr425=)	NC_000003.11:g.148919962A>G	(Likely) benign	3 labs	29ffe2048b
14:76232659 TTLL5 C>T	14	76232659	76232659	C	T	TTLL5	c.1963C>T	NM_015072.5	NP_055887.3:p.(Leu655=)	NC_000014.8:g.76232659C>T	(Likely) benign	2 labs	2a054473a0
7:33138995 RP9 G>A	7	33138995	33138995	G	A	RP9	c.237C>T	NM_203288.2	NP_976033.1:p.(His79=)	NC_000007.13:g.33138995G>A	(Likely) benign	2 labs	2a07b1f91d
5:89949519 ADGRV1 C>T	5	89949519	89949519	C	T	ADGRV1	c.4128C>T	NM_032119.4	NP_115495.3:p.(Asp1376=)	NC_000005.9:g.89949519C>T	(Likely) benign	2 labs	2a080b61fa
9:94991314 IARS1 A>AT	9	94991314	94991319	A	AT	IARS1	c.3377dup	NM_013417.4	NP_038203.2:p.(Asn1126LysfsTer9)	NC_000009.11:g.94991319dup	(Likely) pathogenic	2 labs	2a0a05ef10
15:89754015 RLBP1 G>A	15	89754015	89754015	G	A	RLBP1	c.710C>T	NM_000326.5	NP_000317.1:p.(Ala237Val)	NC_000015.9:g.89754015G>A	VUS	2 labs	2a0f09c579
3:38946711 SCN11A A>G	3	38946711	38946711	A	G	SCN11A	c.1575T>C	NM_001349253.2	NP_001336182.1:p.(Ala525=)	NC_000003.11:g.38946711A>G	(Likely) benign	2 labs	2a21dc67e8
11:2591970 KCNQ1 C>T	11	2591970	2591970	C	T	KCNQ1	c.590C>T	NM_000218.3	NP_000209.2:p.(Pro197Leu)	NC_000011.9:g.2591970C>T	VUS	2 labs	2a23e59df3
19:39025402 RYR1 C>T	19	39025402	39025402	C	T	RYR1	c.11302C>T	NM_000540.3	NP_000531.2:p.(Arg3768Trp)	NC_000019.9:g.39025402C>T	VUS	4 labs	2a247300d2
19:40903528 PRX G>A	19	40903528	40903528	G	A	PRX	c.731C>T	NM_181882.3	NP_870998.2:p.(Ala244Val)	NC_000019.9:g.40903528G>A	(Likely) benign	2 labs	2a5ae14fdf
1:43394612 SLC2A1 T>C	1	43394612	43394612	T	C	SLC2A1	c.1065A>G	NM_006516.4	NP_006507.2:p.(Leu355=)	NC_000001.10:g.43394612T>C	(Likely) benign	3 labs	2a68b79e5c
2:74589841 DCTN1 G>A	2	74589841	74589841	G	A	DCTN1	c.3545C>T	NM_004082.5	NP_004073.2:p.(Ser1182Leu)	NC_000002.11:g.74589841G>A	VUS	2 labs	2a6ae10675
12:88532979 CEP290 A>T	12	88532979	88532979	A	T	CEP290	c.251-11T>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88532979A>T	(Likely) benign	2 labs	2a6d8b12bb
5:77473154 AP3B1 A>T	5	77473154	77473154	A	T	AP3B1	c.893+9T>A	NM_001271769.2	NP_001258698.1:p.?	NC_000005.9:g.77473154A>T	(Likely) benign	3 labs	2a716c4c20
11:47371334 MYBPC3 G>A	11	47371334	47371334	G	A	MYBPC3	c.645C>T	NM_000256.3	NP_000247.2:p.(Arg215=)	NC_000011.9:g.47371334G>A	(Likely) benign	3 labs	2a79a3fff8
7:128494259 FLNC G>A	7	128494259	128494259	G	A	FLNC	c.6716G>A	NM_001458.5	NP_001449.3:p.(Arg2239Gln)	NC_000007.13:g.128494259G>A	VUS	3 labs	2a7f828f67
12:998365 WNK1 G>T	12	998365	998365	G	T	WNK1	c.6204G>T	NM_001184985.2	NP_001171914.1:p.(Met2068Ile)	NC_000012.11:g.998365G>T	(Likely) benign	2 labs	2a80e75059
9:35076517 FANCG G>A	9	35076517	35076517	G	A	FANCG	c.988C>T	NM_004629.2	NP_004620.1:p.(Pro330Ser)	NC_000009.11:g.35076517G>A	(Likely) benign	2 labs	2aa00399da
12:111348926 MYL2 G>A	12	111348926	111348926	G	A	MYL2	c.456C>T	NM_000432.4	NP_000423.2:p.(Tyr152=)	NC_000012.11:g.111348926G>A	(Likely) benign	2 labs	2aa0266e2f
6:56489351 DST A>G	6	56489351	56489351	A	G	DST	c.4807T>C	NM_001144769.5	NP_001138241.1:p.(Leu1603=)	NC_000006.11:g.56489351A>G	(Likely) benign	2 labs	2aa0287070
4:3076603 HTT C>CCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAG	HTT	c.114_116dup	NM_002111.8	NP_002102.4:p.(Gln40dup)	NC_000004.11:g.3076654_3076662dup	(Likely) benign	2 labs	2aa52b23fd
X:56591767 UBQLN2 C>A	X	56591767	56591767	C	A	UBQLN2	c.1461C>A	NM_013444.4	NP_038472.2:p.(Thr487=)	NC_000023.10:g.56591767C>A	(Likely) benign	3 labs	2aa65f4e2c
10:89624267 PTEN G>A	10	89624267	89624267	G	A	PTEN	c.41G>A	NM_000314.8	NP_000305.3:p.(Arg14Lys)	NC_000010.10:g.89624267G>A	VUS	2 labs	2ab079ddd4
1:21902436 ALPL G>T	1	21902436	21902436	G	T	ALPL	c.1189+19G>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21902436G>T	(Likely) benign	2 labs	2ab0e18842
5:180038336 FLT4 G>A	5	180038336	180038336	G	A	FLT4	c.3681C>T	NM_182925.5	NP_891555.2:p.(Ala1227=)	NC_000005.9:g.180038336G>A	(Likely) benign	2 labs	2ab2e790f2
4:1959707 NSD2 G>C	4	1959707	1959707	G	C	NSD2	c.2929G>C	NM_133330.3	NP_579877.1:p.(Glu977Gln)	NC_000004.11:g.1959707G>C	VUS	2 labs	2ab886910e
17:78188509 SGSH C>T	17	78188509	78188509	C	T	SGSH	c.411G>A	NM_000199.5	NP_000190.1:p.(Ala137=)	NC_000017.10:g.78188509C>T	(Likely) benign	2 labs	2abd60bac9
11:47354513 MYBPC3 G>A	11	47354513	47354513	G	A	MYBPC3	c.3342C>T	NM_000256.3	NP_000247.2:p.(Thr1114=)	NC_000011.9:g.47354513G>A	(Likely) benign	2 labs	2ac4956527
20:25282936 ABHD12 AC>A	20	25282936	25282937	AC	A	ABHD12	c.1075del	NM_001042472.3	NP_001035937.1:p.(Val359PhefsTer27)	NC_000020.10:g.25282937del	(Likely) pathogenic	3 labs	2ac6f00a76
1:150530497 ADAMTSL4 C>T	1	150530497	150530497	C	T	ADAMTSL4	c.2254C>T	NM_019032.6	NP_061905.2:p.(Gln752Ter)	NC_000001.10:g.150530497C>T	(Likely) pathogenic	3 labs	2ae3527ed2
3:46902151 MYL3 G>A	3	46902151	46902151	G	A	MYL3	c.307+15C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902151G>A	(Likely) benign	5 labs	2ae4795f52
10:75867074 VCL G>C	10	75867074	75867074	G	C	VCL	c.2521G>C	NM_014000.3	NP_054706.1:p.(Asp841His)	NC_000010.10:g.75867074G>C	(Likely) benign	4 labs	2aebdfecdc
18:25593691 CDH2 C>T	18	25593691	25593691	C	T	CDH2	c.355G>A	NM_001792.5	NP_001783.2:p.(Val119Ile)	NC_000018.9:g.25593691C>T	VUS	2 labs	2aec5fc2b2
11:108159740 ATM A>G	11	108159740	108159740	A	G	ATM	c.4146A>G	NM_000051.4	NP_000042.3:p.(Pro1382=)	NC_000011.9:g.108159740A>G	(Likely) benign	2 labs	2af25c3e35
15:73023709 BBS4 TAC>T	15	73023709	73023712	TAC	T	BBS4	c.777_778del	NM_033028.5	NP_149017.2:p.(Tyr259Ter)	NC_000015.9:g.73023711_73023712del	(Likely) pathogenic	3 labs	2afb1d4717
20:45355497 SLC2A10 C>T	20	45355497	45355497	C	T	SLC2A10	c.1289-6C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45355497C>T	(Likely) benign	2 labs	2b02c64a24
11:2606505 KCNQ1 C>T	11	2606505	2606505	C	T	KCNQ1	c.1096C>T	NM_000218.3	NP_000209.2:p.(Arg366Trp)	NC_000011.9:g.2606505C>T	(Likely) pathogenic	2 labs	2b04547834
5:37227868 CPLANE1 A>C	5	37227868	37227868	A	C	CPLANE1	c.1173T>G	NM_023073.4	NP_075561.3:p.(Ala391=)	NC_000005.9:g.37227868A>C	(Likely) benign	2 labs	2b16320d69
3:14174055 TMEM43 C>T	3	14174055	14174055	C	T	TMEM43	c.402C>T	NM_024334.3	NP_077310.1:p.(Thr134=)	NC_000003.11:g.14174055C>T	(Likely) benign	2 labs	2b2174f940
8:38314899 FGFR1 C>G	8	38314899	38314899	C	G	FGFR1	c.66G>C	NM_023110.3	NP_075598.2:p.(Arg22Ser)	NC_000008.10:g.38314899C>G	(Likely) benign	2 labs	2b21a84d56
X:132826530 GPC3 A>G	X	132826530	132826530	A	G	GPC3	c.1167-8T>C	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132826530A>G	(Likely) benign	4 labs	2b2590b28b
4:100510793 MTTP C>T	4	100510793	100510793	C	T	MTTP	c.394-7C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510793C>T	(Likely) benign	2 labs	2b295cb38d
12:49415905 KMT2D CAGTT>C	12	49415905	49415911	CAGTT	C	KMT2D	c.16438_16441del	NM_003482.4	NP_003473.3:p.(Asn5480ValfsTer6)	NC_000012.11:g.49415908_49415911del	(Likely) pathogenic	2 labs	2b33c23247
18:43496508 EPG5 G>A	18	43496508	43496508	G	A	EPG5	c.3279C>T	NM_020964.3	NP_066015.2:p.(Ser1093=)	NC_000018.9:g.43496508G>A	(Likely) benign	2 labs	2b3d7c82b6
X:152991421 ABCD1 C>T	X	152991421	152991421	C	T	ABCD1	c.700C>T	NM_000033.4	NP_000024.2:p.(Arg234Cys)	NC_000023.10:g.152991421C>T	(Likely) pathogenic	2 labs	2b40d418ba
6:56483052 DST T>C	6	56483052	56483052	T	C	DST	c.5780A>G	NM_001723.7	NP_001714.1:p.(His1927Arg)	NC_000006.11:g.56483052T>C	(Likely) benign	3 labs	2b456b4e70
16:1569872 IFT140 G>A	16	1569872	1569872	G	A	IFT140	c.4040+10C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1569872G>A	(Likely) benign	3 labs	2b50283b1c
5:82836403 VCAN C>T	5	82836403	82836403	C	T	VCAN	c.7581C>T	NM_004385.5	NP_004376.2:p.(Phe2527=)	NC_000005.9:g.82836403C>T	(Likely) benign	2 labs	2b514ff370
3:10128965 FANCD2 C>CTT	3	10128965	10128984	C	CTT	FANCD2	c.3466+35_3466+36dup	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10128983_10128984dup	(Likely) benign	3 labs	2b531100d4
15:90188392 KIF7 A>T	15	90188392	90188392	A	T	KIF7	c.2043T>A	NM_198525.3	NP_940927.2:p.(Val681=)	NC_000015.9:g.90188392A>T	(Likely) benign	4 labs	2b59e5644a
2:179581892 TTN G>A	2	179581892	179581892	G	A	TTN	c.25569C>T	NM_001267550.2	NP_001254479.2:p.(Ala8523=)	NC_000002.11:g.179581892G>A	(Likely) benign	4 labs	2b6464615c
14:64066352 WDR89 T>A	14	64066352	64066352	T	A	WDR89	c.309A>T	NM_001258272.2	NP_001245201.1:p.(Arg103Ser)	NC_000014.8:g.64066352T>A	(Likely) benign	2 labs	2b66fdcdc0
15:89876827 POLG TTGC>T	15	89876827	89876860	TTGC	T	POLG	c.156_158del	NM_002693.3	NP_002684.1:p.(Gln55del)	NC_000015.9:g.89876858_89876860del	(Likely) benign	2 labs	2b76e34454
3:38755500 SCN10A G>T	3	38755500	38755500	G	T	SCN10A	c.3753C>A	NM_006514.4	NP_006505.4:p.(Thr1251=)	NC_000003.11:g.38755500G>T	(Likely) benign	3 labs	2b79e5e17e
11:63398617 ATL3 T>C	11	63398617	63398617	T	C	ATL3	c.1434A>G	NM_015459.5	NP_056274.3:p.(Gly478=)	NC_000011.9:g.63398617T>C	(Likely) benign	2 labs	2b7e8fafbe
17:56434857 RNF43 C>T	17	56434857	56434857	C	T	RNF43	c.2280G>A	NM_017763.6	NP_060233.3:p.(Pro760=)	NC_000017.10:g.56434857C>T	(Likely) benign	2 labs	2b8613d8d0
11:108119849 ATM T>G	11	108119849	108119849	T	G	ATM	c.1235+20T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108119849T>G	(Likely) benign	2 labs	2b8b1b7008
4:126373570 FAT4 C>T	4	126373570	126373570	C	T	FAT4	c.11405C>T	NM_001291303.3	NP_001278232.1:p.(Ser3802Phe)	NC_000004.11:g.126373570C>T	(Likely) benign	2 labs	2b8f201d1e
9:98231061 PTCH1 G>A	9	98231061	98231061	G	A	PTCH1	c.2024C>T	NM_001083602.3	NP_001077071.1:p.(Ala675Val)	NC_000009.11:g.98231061G>A	(Likely) benign	2 labs	2b8fd7dbaa
17:57141768 TRIM37 TA>T	17	57141768	57141779	TA	T	TRIM37	c.810-3del	NM_001005207.5	NP_001005207.1:p.?	NC_000017.10:g.57141779del	(Likely) benign	3 labs	2b90b5f6de
14:23893120 MYH7 T>C	14	23893120	23893120	T	C	MYH7	c.2918A>G	NM_000257.4	NP_000248.2:p.(Asn973Ser)	NC_000014.8:g.23893120T>C	VUS	2 labs	2b95401905
2:179412982 TTN T>G	2	179412982	179412982	T	G	TTN	c.93371A>C	NM_001267550.2	NP_001254479.2:p.(Asp31124Ala)	NC_000002.11:g.179412982T>G	VUS	2 labs	2ba104b09e
1:248059603 OR2W3 G>A	1	248059603	248059603	G	A	OR2W3	c.715G>A	NM_001001957.2	NP_001001957.2:p.(Gly239Ser)	NC_000001.10:g.248059603G>A	(Likely) benign	2 labs	2ba295230c
7:21640728 DNAH11 G>A	7	21640728	21640728	G	A	DNAH11	c.3356G>A	NM_001277115.2	NP_001264044.1:p.(Ser1119Asn)	NC_000007.13:g.21640728G>A	VUS	2 labs	2ba59540d7
1:201334750 TNNT2 T>C	1	201334750	201334750	T	C	TNNT2	c.252A>G	NM_001276347.2	NP_001263276.1:p.(Arg84=)	NC_000001.10:g.201334750T>C	(Likely) benign	2 labs	2bacfd367d
11:22283860 ANO5 A>G	11	22283860	22283860	A	G	ANO5	c.1800+16A>G	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22283860A>G	(Likely) benign	2 labs	2bb0331cb1
2:238262021 COL6A3 G>A	2	238262021	238262021	G	A	COL6A3	c.6653C>T	NM_004369.4	NP_004360.2:p.(Pro2218Leu)	NC_000002.11:g.238262021G>A	(Likely) benign	3 labs	2bb4027723
1:179545050 NPHS2 C>A	1	179545050	179545050	C	A	NPHS2	c.-51G>T	NM_014625.4	NP_055440.1:p.?	NC_000001.10:g.179545050C>A	(Likely) benign	3 labs	2bb4dad4ad
14:23888756 MYH7 C>A	14	23888756	23888756	C	A	MYH7	c.3789G>T	NM_000257.4	NP_000248.2:p.(Ala1263=)	NC_000014.8:g.23888756C>A	(Likely) benign	2 labs	2bc3cfff52
20:45354349 SLC2A10 G>A	20	45354349	45354349	G	A	SLC2A10	c.674G>A	NM_030777.4	NP_110404.1:p.(Arg225His)	NC_000020.10:g.45354349G>A	(Likely) benign	2 labs	2bc54a918b
11:48149572 PTPRJ C>T	11	48149572	48149572	C	T	PTPRJ	c.1334C>T	NM_002843.4	NP_002834.3:p.(Pro445Leu)	NC_000011.9:g.48149572C>T	(Likely) benign	2 labs	2bc996b9be
9:103054586 INVS ATTT>A	9	103054586	103054592	ATTT	A	INVS	c.2069-18_2069-16del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103054590_103054592del	(Likely) benign	2 labs	2bcd6735bc
16:77359816 ADAMTS18 C>T	16	77359816	77359816	C	T	ADAMTS18	c.1979G>A	NM_199355.4	NP_955387.1:p.(Ser660Asn)	NC_000016.9:g.77359816C>T	(Likely) benign	3 labs	2bd7033782
5:149515380 PDGFRB G>A	5	149515380	149515380	G	A	PDGFRB	c.102C>T	NM_002609.4	NP_002600.1:p.(Val34=)	NC_000005.9:g.149515380G>A	(Likely) benign	2 labs	2bd78b5321
15:72996815 BBS4 A>G	15	72996815	72996815	A	G	BBS4	c.77-5226A>G	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72996815A>G	(Likely) benign	2 labs	2be15367c3
1:3347520 PRDM16 C>T	1	3347520	3347520	C	T	PRDM16	c.3369C>T	NM_022114.4	NP_071397.3:p.(Asp1123=)	NC_000001.10:g.3347520C>T	(Likely) benign	2 labs	2be2b95304
13:32907535 BRCA2 CT>C	13	32907535	32907546	CT	C	BRCA2	c.1909+22del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907546del	(Likely) benign	2 labs	2be9f834a3
1:3319569 PRDM16 C>T	1	3319569	3319569	C	T	PRDM16	c.884+7C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319569C>T	(Likely) benign	3 labs	2bec0a26e1
2:238303450 COL6A3 C>T	2	238303450	238303450	C	T	COL6A3	c.489G>A	NM_004369.4	NP_004360.2:p.(Ala163=)	NC_000002.11:g.238303450C>T	(Likely) benign	3 labs	2bef6786dd
14:97319160 VRK1 G>C	14	97319160	97319160	G	C	VRK1	c.375-8G>C	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97319160G>C	(Likely) benign	4 labs	2bfed57d84
6:152765579 SYNE1 C>T	6	152765579	152765579	C	T	SYNE1	c.3804G>A	NM_182961.4	NP_892006.3:p.(Leu1268=)	NC_000006.11:g.152765579C>T	(Likely) benign	2 labs	2c020fdd68
2:179633486 TTN T>A	2	179633486	179633486	T	A	TTN	c.9077A>T	NM_001267550.2	NP_001254479.2:p.(Asn3026Ile)	NC_000002.11:g.179633486T>A	(Likely) benign	3 labs	2c0a5bcff4
10:75758142 VCL G>T	10	75758142	75758142	G	T	VCL	c.168+9G>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75758142G>T	(Likely) benign	2 labs	2c0b5dba9b
4:88533255 DSPP A>G	4	88533255	88533255	A	G	DSPP	c.52-2A>G	NM_014208.3	NP_055023.2:p.?	NC_000004.11:g.88533255A>G	(Likely) pathogenic	2 labs	2c0d401c42
15:48755450 FBN1 T>TA	15	48755450	48755458	T	TA	FBN1	c.5066-14dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48755458dup	(Likely) benign	2 labs	2c165e9779
12:32977103 PKP2 G>GA	12	32977103	32977109	G	GA	PKP2	c.1689-8dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32977109dup	(Likely) benign	5 labs	2c16e7e702
10:88451695 LDB3 C>T	10	88451695	88451695	C	T	LDB3	c.936C>T	NM_001171610.2	NP_001165081.1:p.(Pro312=)	NC_000010.10:g.88451695C>T	(Likely) benign	2 labs	2c1ae8dd71
5:149324060 PDE6A T>C	5	149324060	149324060	T	C	PDE6A	c.177A>G	NM_000440.3	NP_000431.2:p.(Glu59=)	NC_000005.9:g.149324060T>C	(Likely) benign	2 labs	2c280d3901
1:21890673 ALPL C>T	1	21890673	21890673	C	T	ALPL	c.612C>T	NM_000478.6	NP_000469.3:p.(Ile204=)	NC_000001.10:g.21890673C>T	(Likely) benign	2 labs	2c28ac2125
17:41249290 BRCA1 T>C	17	41249290	41249290	T	C	BRCA1	c.564A>G	NM_007294.4	NP_009225.1:p.(Glu188=)	NC_000017.10:g.41249290T>C	(Likely) benign	3 labs	2c3f83c7bc
10:73464812 CDH23 G>A	10	73464812	73464812	G	A	CDH23	c.2878G>A	NM_022124.6	NP_071407.4:p.(Glu960Lys)	NC_000010.10:g.73464812G>A	(Likely) benign	2 labs	2c46a47b54
11:108128185 ATM A>AT	11	108128185	108128190	A	AT	ATM	c.2251-18dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128190dup	(Likely) benign	2 labs	2c4efdb51c
13:32972871 BRCA2 T>C	13	32972871	32972871	T	C	BRCA2	c.10221T>C	NM_000059.4	NP_000050.3:p.(Asn3407=)	NC_000013.10:g.32972871T>C	(Likely) benign	2 labs	2c52feed06
15:48719912 FBN1 G>A	15	48719912	48719912	G	A	FBN1	c.7056C>T	NM_000138.5	NP_000129.3:p.(Ser2352=)	NC_000015.9:g.48719912G>A	(Likely) benign	3 labs	2c737a6e48
3:37067097 MLH1 ATATTTT>A	3	37067097	37067104	ATATTTT	A	MLH1	c.1039-29_1039-24del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067099_37067104del	(Likely) benign	2 labs	2c7589a26f
13:32910828 BRCA2 T>G	13	32910828	32910828	T	G	BRCA2	c.2336T>G	NM_000059.4	NP_000050.3:p.(Leu779Arg)	NC_000013.10:g.32910828T>G	(Likely) benign	3 labs	2c77c6430e
18:19383857 MIB1 A>T	18	19383857	19383857	A	T	MIB1	c.1372-11A>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19383857A>T	(Likely) benign	2 labs	2c78c83178
10:102587428 PAX2 C>G	10	102587428	102587428	C	G	PAX2	c.1218C>G	NM_003989.5	NP_003980.3:p.(Ile406Met)	NC_000010.10:g.102587428C>G	(Likely) benign	2 labs	2c89fb2da1
2:179432958 TTN G>A	2	179432958	179432958	G	A	TTN	c.77901C>T	NM_001267550.2	NP_001254479.2:p.(Ala25967=)	NC_000002.11:g.179432958G>A	(Likely) benign	3 labs	2c8c540855
6:32017900 TNXB C>T	6	32017900	32017900	C	T	TNXB	c.9308G>A	NM_019105.8	NP_061978.6:p.(Arg3103Gln)	NC_000006.11:g.32017900C>T	(Likely) benign	2 labs	2c918d12e6
16:88502381 ZNF469 G>C	16	88502381	88502381	G	C	ZNF469	c.8503G>C	NM_001367624.2	NP_001354553.1:p.(Glu2835Gln)	NC_000016.9:g.88502381G>C	(Likely) benign	3 labs	2c925fb6d7
6:35479951 TULP1 G>A	6	35479951	35479951	G	A	TULP1	c.190+6C>T	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35479951G>A	(Likely) benign	2 labs	2c9f1a67fc
7:128494510 FLNC A>G	7	128494510	128494510	A	G	FLNC	c.6771A>G	NM_001458.5	NP_001449.3:p.(Pro2257=)	NC_000007.13:g.128494510A>G	(Likely) benign	5 labs	2cab666115
10:90524335 LIPN C>T	10	90524335	90524335	C	T	LIPN	c.395C>T	NM_001102469.2	NP_001095939.1:p.(Ser132Leu)	NC_000010.10:g.90524335C>T	(Likely) benign	2 labs	2cae5502d6
1:12061574 MFN2 C>T	1	12061574	12061574	C	T	MFN2	c.933C>T	NM_014874.4	NP_055689.1:p.(Asn311=)	NC_000001.10:g.12061574C>T	(Likely) benign	2 labs	2cb2ea0afa
12:6180514 VWF T>TG	12	6180514	6180516	T	TG	VWF	c.1110-6dup	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6180516dup	(Likely) benign	3 labs	2cb8474cbe
17:56284465 MKS1 C>T	17	56284465	56284465	C	T	MKS1	c.1388G>A	NM_017777.4	NP_060247.2:p.(Arg463Gln)	NC_000017.10:g.56284465C>T	(Likely) benign	4 labs	2cc2958827
2:238287288 COL6A3 C>A	2	238287288	238287288	C	A	COL6A3	c.2488G>T	NM_004369.4	NP_004360.2:p.(Ala830Ser)	NC_000002.11:g.238287288C>A	(Likely) benign	3 labs	2cc3351d79
4:1803544 FGFR3 C>T	4	1803544	1803544	C	T	FGFR3	c.740-18C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803544C>T	(Likely) benign	2 labs	2cdb591cc2
2:179434462 TTN A>G	2	179434462	179434462	A	G	TTN	c.76397T>C	NM_001267550.2	NP_001254479.2:p.(Ile25466Thr)	NC_000002.11:g.179434462A>G	VUS	2 labs	2ce162e01f
2:73717828 ALMS1 A>G	2	73717828	73717828	A	G	ALMS1	c.8745A>G	NM_015120.4	NP_055935.4:p.(Val2915=)	NC_000002.11:g.73717828A>G	(Likely) benign	2 labs	2ce1b42d28
19:18266849 PIK3R2 G>A	19	18266849	18266849	G	A	PIK3R2	c.160G>A	NM_005027.4	NP_005018.2:p.(Val54Met)	NC_000019.9:g.18266849G>A	(Likely) benign	2 labs	2ce85e9e10
7:81695842 CACNA2D1 T>TA	7	81695842	81695858	T	TA	CACNA2D1	c.659-3dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695858dup	(Likely) benign	3 labs	2ce8c292f5
6:72892633 RIMS1 G>A	6	72892633	72892633	G	A	RIMS1	c.1459G>A	NM_014989.6	NP_055804.2:p.(Ala487Thr)	NC_000006.11:g.72892633G>A	(Likely) benign	2 labs	2cf2d86b8c
10:121429647 BAG3 A>AGCG	10	121429647	121429658	A	AGCG	BAG3	c.474_476dup	NM_004281.4	NP_004272.2:p.(Ala160dup)	NC_000010.10:g.121429656_121429658dup	(Likely) benign	3 labs	2ceef57156
4:47938560 CNGA1 T>C	4	47938560	47938560	T	C	CNGA1	c.1939A>G	NM_001142564.2	NP_001136036.2:p.(Met647Val)	NC_000004.11:g.47938560T>C	VUS	2 labs	2d06f2fc51
9:97897655 FANCC G>A	9	97897655	97897655	G	A	FANCC	c.816C>T	NM_000136.3	NP_000127.2:p.(Ile272=)	NC_000009.11:g.97897655G>A	(Likely) benign	2 labs	2d1f230cba
22:50885871 SBF1 G>A	22	50885871	50885871	G	A	SBF1	c.5463C>T	NM_002972.4	NP_002963.2:p.(Tyr1821=)	NC_000022.10:g.50885871G>A	(Likely) benign	4 labs	2d219626d0
X:38182775 RPGR AATCT>A	X	38182775	38182779	AATCT	A	RPGR	c.29-2_30del	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38182776_38182779del	(Likely) pathogenic	2 labs	2d254aefc0
6:31324528 HLA-B G>GTT	6	31324528	31324529	G	GTT	HLA-B	c.279_280insAA	NM_005514.8	NP_005505.2:p.(Gln94AsnfsTer58)	NC_000006.11:g.31324528_31324529insTT	(Likely) benign	2 labs	2d270edc21
7:94027085 COL1A2 T>C	7	94027085	94027085	T	C	COL1A2	c.81+15T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027085T>C	(Likely) benign	2 labs	2d271f8d2d
22:37904528 CARD10 C>A	22	37904528	37904528	C	A	CARD10	c.1065+6G>T	NM_014550.4	NP_055365.2:p.?	NC_000022.10:g.37904528C>A	(Likely) benign	2 labs	2d28655326
9:27202870 TEK A>G	9	27202870	27202870	A	G	TEK	c.1962A>G	NM_000459.5	NP_000450.3:p.(Ser654=)	NC_000009.11:g.27202870A>G	(Likely) benign	2 labs	2d29dee132
15:44889073 SPG11 A>G	15	44889073	44889073	A	G	SPG11	c.4070T>C	NM_025137.4	NP_079413.3:p.(Leu1357Pro)	NC_000015.9:g.44889073A>G	(Likely) benign	2 labs	2d2b4fc28a
12:133252693 POLE T>C	12	133252693	133252693	T	C	POLE	c.1007A>G	NM_006231.4	NP_006222.2:p.(Asn336Ser)	NC_000012.11:g.133252693T>C	(Likely) benign	3 labs	2d329adc65
11:46342283 CREB3L1 T>G	11	46342283	46342283	T	G	CREB3L1	c.1547T>G	NM_052854.4	NP_443086.1:p.(Ile516Ser)	NC_000011.9:g.46342283T>G	(Likely) benign	2 labs	2d350fce2b
5:73205697 ARHGEF28 C>G	5	73205697	73205697	C	G	ARHGEF28	c.4622C>G	NM_001080479.3	NP_001073948.2:p.(Ala1541Gly)	NC_000005.9:g.73205697C>G	(Likely) benign	2 labs	2d43cf9715
X:129267407 AIFM1 G>A	X	129267407	129267407	G	A	AIFM1	c.1329C>T	NM_004208.4	NP_004199.1:p.(Tyr443=)	NC_000023.10:g.129267407G>A	(Likely) benign	3 labs	2d5a93430b
11:65487769 RNASEH2C G>C	11	65487769	65487769	G	C	RNASEH2C	c.292C>G	NM_032193.4	NP_115569.2:p.(Pro98Ala)	NC_000011.9:g.65487769G>C	VUS	2 labs	2d5c4a61d0
7:92120598 PEX1 G>A	7	92120598	92120598	G	A	PEX1	c.2802C>T	NM_001282678.2	NP_001269607.1:p.(Thr934=)	NC_000007.13:g.92120598G>A	(Likely) benign	2 labs	2d5d4b4942
2:179574305 TTN T>C	2	179574305	179574305	T	C	TTN	c.28741A>G	NM_001267550.2	NP_001254479.2:p.(Ile9581Val)	NC_000002.11:g.179574305T>C	VUS	2 labs	2d5e9e32ae
X:71838594 PHKA1 G>T	X	71838594	71838594	G	T	PHKA1	c.2335C>A	NM_002637.4	NP_002628.2:p.(Gln779Lys)	NC_000023.10:g.71838594G>T	VUS	2 labs	2d69b2563e
10:69921492 MYPN G>A	10	69921492	69921492	G	A	MYPN	c.1466G>A	NM_032578.4	NP_115967.2:p.(Arg489Gln)	NC_000010.10:g.69921492G>A	VUS	3 labs	2d725fd069
2:108614331 SLC5A7 C>T	2	108614331	108614331	C	T	SLC5A7	c.486C>T	NM_021815.5	NP_068587.1:p.(His162=)	NC_000002.11:g.108614331C>T	(Likely) benign	2 labs	2d75154c23
11:76916624 MYO7A C>A	11	76916624	76916624	C	A	MYO7A	c.5598C>A	NM_000260.4	NP_000251.3:p.(Leu1866=)	NC_000011.9:g.76916624C>A	(Likely) benign	2 labs	2d78a21e28
4:119745768 SEC24D A>G	4	119745768	119745768	A	G	SEC24D	c.248+7T>C	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119745768A>G	(Likely) benign	2 labs	2d9fcbc484
4:126372742 FAT4 G>A	4	126372742	126372742	G	A	FAT4	c.10577G>A	NM_001291303.3	NP_001278232.1:p.(Gly3526Asp)	NC_000004.11:g.126372742G>A	(Likely) benign	2 labs	2d7bb2dabf
16:57494029 COQ9 C>T	16	57494029	57494029	C	T	COQ9	c.921+13C>T	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57494029C>T	(Likely) benign	2 labs	2d7ffe5eec
13:111111173 COL4A2 G>A	13	111111173	111111173	G	A	COL4A2	c.1488G>A	NM_001846.4	NP_001837.2:p.(Pro496=)	NC_000013.10:g.111111173G>A	(Likely) benign	3 labs	2d89cfeb71
6:161519350 MAP3K4 CCTGCTG>C	6	161519350	161519383	CCTGCTG	C	MAP3K4	c.1952_1957del	NM_001291958.2	NP_001278887.1:p.(Ala651_Ala652del)	NC_000006.11:g.161519378_161519383del	(Likely) benign	2 labs	2d89df3791
15:89838176 FANCI T>G	15	89838176	89838176	T	G	FANCI	c.2487T>G	NM_001113378.2	NP_001106849.1:p.(Leu829=)	NC_000015.9:g.89838176T>G	(Likely) benign	3 labs	2d8bf6d930
7:73467650 ELN CTGTG>C	7	73467650	73467689	CTGTG	C	ELN	c.1096+47_1096+50del	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467686_73467689del	(Likely) benign	2 labs	2d8c92388f
13:110863974 COL4A1 CAAAAT>C	13	110863974	110863989	CAAAAT	C	COL4A1	c.468+15_468+19del	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110863985_110863989del	(Likely) benign	3 labs	2d8d21a4ac
13:32910891 BRCA2 G>A	13	32910891	32910891	G	A	BRCA2	c.2399G>A	NM_000059.4	NP_000050.3:p.(Gly800Asp)	NC_000013.10:g.32910891G>A	(Likely) benign	5 labs	2d8d4e3d98
13:32914196 BRCA2 G>A	13	32914196	32914196	G	A	BRCA2	c.5704G>A	NM_000059.4	NP_000050.3:p.(Asp1902Asn)	NC_000013.10:g.32914196G>A	(Likely) benign	6 labs	2d9026fc80
X:153296118 MECP2 G>A	X	153296118	153296118	G	A	MECP2	c.1161C>T	NM_004992.4	NP_004983.1:p.(Pro387=)	NC_000023.10:g.153296118G>A	(Likely) benign	3 labs	2d90e05904
2:238244923 COL6A3 C>T	2	238244923	238244923	C	T	COL6A3	c.8820G>A	NM_004369.4	NP_004360.2:p.(Thr2940=)	NC_000002.11:g.238244923C>T	(Likely) benign	2 labs	2da841385f
17:1630389 WDR81 G>A	17	1630389	1630389	G	A	WDR81	c.2136G>A	NM_001163809.2	NP_001157281.1:p.(Gly712=)	NC_000017.10:g.1630389G>A	(Likely) benign	2 labs	2dac1122c8
3:123367884 MYLK C>T	3	123367884	123367884	C	T	MYLK	c.4349G>A	NM_053025.4	NP_444253.3:p.(Arg1450Gln)	NC_000003.11:g.123367884C>T	(Likely) benign	2 labs	2db634ac54
1:241676972 FH G>A	1	241676972	241676972	G	A	FH	c.309C>T	NM_000143.4	NP_000134.2:p.(Ala103=)	NC_000001.10:g.241676972G>A	(Likely) benign	3 labs	2dc37faaa8
4:6303727 WFS1 C>T	4	6303727	6303727	C	T	WFS1	c.2205C>T	NM_006005.3	NP_005996.2:p.(Tyr735=)	NC_000004.11:g.6303727C>T	(Likely) benign	3 labs	2dcd76c5c6
7:106888946 COG5 T>TA	7	106888946	106888958	T	TA	COG5	c.1750-3dup	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.106888958dup	(Likely) benign	2 labs	2dd15c7790
17:29559061 NF1 ATT>A	17	29559061	29559087	ATT	A	NF1	c.3198-5_3198-4del	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559086_29559087del	(Likely) benign	2 labs	2dcd9eafa7
4:184614874 TRAPPC11 C>T	4	184614874	184614874	C	T	TRAPPC11	c.2370C>T	NM_021942.6	NP_068761.4:p.(Thr790=)	NC_000004.11:g.184614874C>T	(Likely) benign	2 labs	2ddee6b6c0
9:80879173 CEP78 C>T	9	80879173	80879173	C	T	CEP78	c.1569C>T	NM_001098802.3	NP_001092272.1:p.(Gly523=)	NC_000009.11:g.80879173C>T	(Likely) benign	2 labs	2df3e1819a
13:32914957 BRCA2 C>T	13	32914957	32914957	C	T	BRCA2	c.6465C>T	NM_000059.4	NP_000050.3:p.(Leu2155=)	NC_000013.10:g.32914957C>T	(Likely) benign	4 labs	2de7780557
16:2106725 TSC2 C>G	16	2106725	2106725	C	G	TSC2	c.729C>G	NM_000548.5	NP_000539.2:p.(Leu243=)	NC_000016.9:g.2106725C>G	(Likely) benign	2 labs	2deefba80d
14:102515015 DYNC1H1 G>A	14	102515015	102515015	G	A	DYNC1H1	c.13372+9G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102515015G>A	(Likely) benign	4 labs	2def293c81
5:112116562 APC C>G	5	112116562	112116562	C	G	APC	c.607C>G	NM_000038.6	NP_000029.2:p.(Gln203Glu)	NC_000005.9:g.112116562C>G	(Likely) benign	2 labs	2df1138ee0
3:132217957 DNAJC13 T>G	3	132217957	132217957	T	G	DNAJC13	c.4157-13T>G	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132217957T>G	(Likely) benign	2 labs	2df2b6a73d
19:38997459 RYR1 G>C	19	38997459	38997459	G	C	RYR1	c.8693-10G>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38997459G>C	(Likely) benign	2 labs	2df307b895
2:170042208 LRP2 T>C	2	170042208	170042208	T	C	LRP2	c.9650A>G	NM_004525.3	NP_004516.2:p.(Tyr3217Cys)	NC_000002.11:g.170042208T>C	(Likely) benign	3 labs	2dfde8f871
22:37163362 IFT27 C>T	22	37163362	37163362	C	T	IFT27	c.162G>A	NM_001177701.3	NP_001171172.1:p.(Thr54=)	NC_000022.10:g.37163362C>T	(Likely) benign	2 labs	2dfef6f7e3
3:63898390 ATXN7 A>AGCAGCAGCC	3	63898390	63898393	A	AGCAGCAGCC	ATXN7	c.118_119insAGCAGCCGC	NM_000333.4	NP_000324.1:p.(Gln39_Pro40insGlnGlnPro)	NC_000003.11:g.63898392_63898393insAGCAGCCGC	(Likely) benign	2 labs	2e02e17234
3:30713246 TGFBR2 G>A	3	30713246	30713246	G	A	TGFBR2	c.646G>A	NM_001024847.2	NP_001020018.1:p.(Val216Ile)	NC_000003.11:g.30713246G>A	(Likely) benign	3 labs	2e0551981e
5:149459839 CSF1R G>C	5	149459839	149459839	G	C	CSF1R	c.368C>G	NM_001349736.2	NP_001336665.1:p.(Ala123Gly)	NC_000005.9:g.149459839G>C	(Likely) benign	3 labs	2e05b7f9db
2:179606395 TTN A>T	2	179606395	179606395	A	T	TTN	c.11565T>A	NM_001267550.2	NP_001254479.2:p.(Phe3855Leu)	NC_000002.11:g.179606395A>T	VUS	2 labs	2e1042da09
13:77566320 CLN5 C>G	13	77566320	77566320	C	G	CLN5	c.87C>G	NM_001366624.2	NP_001353553.1:p.(Ala29=)	NC_000013.10:g.77566320C>G	(Likely) benign	2 labs	2e1980cb6f
15:90171684 KIF7 G>T	15	90171684	90171684	G	T	KIF7	c.3998C>A	NM_198525.3	NP_940927.2:p.(Pro1333Gln)	NC_000015.9:g.90171684G>T	(Likely) benign	2 labs	2e24827bc6
14:97322892 VRK1 G>T	14	97322892	97322892	G	T	VRK1	c.858G>T	NM_003384.3	NP_003375.1:p.(Met286Ile)	NC_000014.8:g.97322892G>T	VUS	2 labs	2e28f77892
15:35085735 ACTC1 G>A	15	35085735	35085735	G	A	ACTC1	c.165C>T	NM_005159.5	NP_005150.1:p.(Tyr55=)	NC_000015.9:g.35085735G>A	(Likely) benign	5 labs	2e2e5f8bfb
3:132441011 NPHP3 C>G	3	132441011	132441011	C	G	NPHP3	c.189G>C	NM_153240.5	NP_694972.3:p.(Gly63=)	NC_000003.11:g.132441011C>G	(Likely) benign	2 labs	2e35ec131f
12:133225607 POLE T>C	12	133225607	133225607	T	C	POLE	c.4057A>G	NM_006231.4	NP_006222.2:p.(Ser1353Gly)	NC_000012.11:g.133225607T>C	(Likely) benign	5 labs	2e36bffe8c
19:50912772 POLD1 G>A	19	50912772	50912772	G	A	POLD1	c.2007-4G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50912772G>A	(Likely) benign	2 labs	2e4eea9fb7
1:236917271 ACTN2 G>A	1	236917271	236917271	G	A	ACTN2	c.1240G>A	NM_001278344.2	NP_001265273.1:p.(Asp414Asn)	NC_000001.10:g.236917271G>A	(Likely) benign	5 labs	2e56e27c7b
6:7584691 DSP A>G	6	7584691	7584691	A	G	DSP	c.7196A>G	NM_004415.4	NP_004406.2:p.(Glu2399Gly)	NC_000006.11:g.7584691A>G	VUS	2 labs	2e5c6bedaf
2:179563643 TTN T>TA	2	179563643	179563658	T	TA	TTN	c.30683-3dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563658dup	(Likely) benign	5 labs	2e6d89248c
6:119150218 MCM9 T>A	6	119150218	119150218	T	A	MCM9	c.1521A>T	NM_017696.3	NP_060166.2:p.(Glu507Asp)	NC_000006.11:g.119150218T>A	(Likely) benign	2 labs	2e6f451f08
17:59820467 BRIP1 A>G	17	59820467	59820467	A	G	BRIP1	c.2286T>C	NM_032043.3	NP_114432.2:p.(Arg762=)	NC_000017.10:g.59820467A>G	(Likely) benign	3 labs	2e734b3714
3:148895654 CP A>G	3	148895654	148895654	A	G	CP	c.2991T>C	NM_000096.4	NP_000087.2:p.(His997=)	NC_000003.11:g.148895654A>G	(Likely) benign	3 labs	2e835ae366
2:179628914 TTN A>C	2	179628914	179628914	A	C	TTN	c.10104T>G	NM_001267550.2	NP_001254479.2:p.(Val3368=)	NC_000002.11:g.179628914A>C	(Likely) benign	3 labs	2e85869bc2
10:112541032 RBM20 C>T	10	112541032	112541032	C	T	RBM20	c.665C>T	NM_001134363.3	NP_001127835.2:p.(Ala222Val)	NC_000010.10:g.112541032C>T	VUS	2 labs	2e8c129920
X:47069314 UBA1 C>T	X	47069314	47069314	C	T	UBA1	c.2004-13C>T	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47069314C>T	(Likely) benign	2 labs	2e93d2de1f
11:88911351 TYR G>A	11	88911351	88911351	G	A	TYR	c.230G>A	NM_000372.5	NP_000363.1:p.(Arg77Gln)	NC_000011.9:g.88911351G>A	(Likely) pathogenic	2 labs	2e95aedcf6
2:71742892 DYSF T>C	2	71742892	71742892	T	C	DYSF	c.885+11T>C	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71742892T>C	(Likely) benign	2 labs	2e95e51f02
2:179638721 TTN C>T	2	179638721	179638721	C	T	TTN	c.7174G>A	NM_001267550.2	NP_001254479.2:p.(Gly2392Ser)	NC_000002.11:g.179638721C>T	(Likely) benign	2 labs	2e971a345c
16:58577315 CNOT1 GA>G	16	58577315	58577328	GA	G	CNOT1	c.4629del	NM_206999.3	NP_996882.1:p.(Leu1544CysfsTer11)	NC_000016.9:g.58577328del	(Likely) benign	2 labs	2e97efdd22
2:179399585 TTN A>G	2	179399585	179399585	A	G	TTN	c.94053T>C	NM_133378.4	NP_596869.4:p.(Tyr31351=)	NC_000002.11:g.179399585A>G	(Likely) benign	2 labs	2e9dec6d89
17:57126712 TRIM37 A>T	17	57126712	57126712	A	T	TRIM37	c.1357T>A	NM_001005207.5	NP_001005207.1:p.(Leu453Met)	NC_000017.10:g.57126712A>T	(Likely) benign	2 labs	2ea4c748d7
2:24980914 NCOA1 C>T	2	24980914	24980914	C	T	NCOA1	c.3954C>T	NM_003743.5	NP_003734.3:p.(Thr1318=)	NC_000002.11:g.24980914C>T	(Likely) benign	2 labs	2ea6fbc87c
11:73753265 C2CD3 T>C	11	73753265	73753265	T	C	C2CD3	c.5496-2A>G	NM_015531.6	NP_056346.3:p.?	NC_000011.9:g.73753265T>C	VUS	2 labs	2eab148011
20:57428478 GNAS C>G	20	57428478	57428478	C	G	GNAS	c.158C>G	NM_080425.4	NP_536350.2:p.(Pro53Arg)	NC_000020.10:g.57428478C>G	(Likely) benign	2 labs	2eb2b3eb92
18:19418475 MIB1 A>G	18	19418475	19418475	A	G	MIB1	c.1962+17A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19418475A>G	(Likely) benign	3 labs	2eb40f23d2
22:51065600 ARSA G>A	22	51065600	51065600	G	A	ARSA	c.459C>T	NM_000487.6	NP_000478.3:p.(His153=)	NC_000022.10:g.51065600G>A	(Likely) benign	4 labs	2ec6ac7fb5
1:3328852 PRDM16 A>T	1	3328852	3328852	A	T	PRDM16	c.2091A>T	NM_022114.4	NP_071397.3:p.(Ala697=)	NC_000001.10:g.3328852A>T	(Likely) benign	2 labs	2eda909911
9:135201714 SETX T>C	9	135201714	135201714	T	C	SETX	c.5271A>G	NM_001351527.2	NP_001338456.1:p.(Glu1757=)	NC_000009.11:g.135201714T>C	(Likely) benign	2 labs	2edc710e1c
9:111651598 ELP1 G>A	9	111651598	111651598	G	A	ELP1	c.3222+14C>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111651598G>A	(Likely) benign	2 labs	2edfb7a6e5
6:152652034 SYNE1 A>T	6	152652034	152652034	A	T	SYNE1	c.13786T>A	NM_182961.4	NP_892006.3:p.(Ser4596Thr)	NC_000006.11:g.152652034A>T	(Likely) benign	4 labs	2ee6826724
6:152629772 SYNE1 GA>G	6	152629772	152629786	GA	G	SYNE1	c.17203-6del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629786del	(Likely) benign	5 labs	2ee9261bd3
2:219679423 CYP27A1 C>T	2	219679423	219679423	C	T	CYP27A1	c.1419C>T	NM_000784.4	NP_000775.1:p.(Val473=)	NC_000002.11:g.219679423C>T	(Likely) benign	2 labs	2eec1a1662
4:110670693 CFI G>A	4	110670693	110670693	G	A	CFI	c.1006C>T	NM_000204.5	NP_000195.3:p.(Arg336Ter)	NC_000004.11:g.110670693G>A	(Likely) pathogenic	2 labs	2ef295f61d
17:73513619 TSEN54 C>A	17	73513619	73513619	C	A	TSEN54	c.370-19C>A	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73513619C>A	(Likely) benign	3 labs	2ee99eccea
11:71153322 DHCR7 G>A	11	71153322	71153322	G	A	DHCR7	c.399C>T	NM_001360.3	NP_001351.2:p.(Ala133=)	NC_000011.9:g.71153322G>A	(Likely) benign	3 labs	2ef9944f72
9:133729620 ABL1 T>G	9	133729620	133729620	T	G	ABL1	c.249T>G	NM_005157.6	NP_005148.2:p.(Thr83=)	NC_000009.11:g.133729620T>G	(Likely) benign	2 labs	2f03f0ce99
X:38147259 RPGR T>A	X	38147259	38147259	T	A	RPGR	c.1608A>T	NM_001034853.2	NP_001030025.1:p.(Thr536=)	NC_000023.10:g.38147259T>A	(Likely) benign	3 labs	2f06018323
9:137657550 COL5A1 G>A	9	137657550	137657550	G	A	COL5A1	c.2058G>A	NM_000093.5	NP_000084.3:p.(Pro686=)	NC_000009.11:g.137657550G>A	(Likely) benign	3 labs	2f1fcb09a3
9:137734039 COL5A1 G>A	9	137734039	137734039	G	A	COL5A1	c.5407G>A	NM_000093.5	NP_000084.3:p.(Asp1803Asn)	NC_000009.11:g.137734039G>A	(Likely) benign	2 labs	2f38c33f0a
2:179315734 PRKRA GGC>G	2	179315734	179315739	GGC	G	PRKRA	c.22_23del	NM_003690.5	NP_003681.1:p.(Ala8ArgfsTer22)	NC_000002.11:g.179315738_179315739del	(Likely) benign	2 labs	2f43918cd1
10:102778932 PDZD7 C>T	10	102778932	102778932	C	T	PDZD7	c.971G>A	NM_001195263.2	NP_001182192.1:p.(Ser324Asn)	NC_000010.10:g.102778932C>T	VUS	3 labs	2f3d31a764
2:179472548 TTN C>T	2	179472548	179472548	C	T	TTN	c.52966G>A	NM_001267550.2	NP_001254479.2:p.(Gly17656Arg)	NC_000002.11:g.179472548C>T	VUS	3 labs	2f45ad4299
19:55668509 TNNI3 A>T	19	55668509	55668509	A	T	TNNI3	c.25-8T>A	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668509A>T	(Likely) benign	4 labs	2f4dcec61c
6:75822972 COL12A1 A>G	6	75822972	75822972	A	G	COL12A1	c.7898T>C	NM_004370.6	NP_004361.3:p.(Val2633Ala)	NC_000006.11:g.75822972A>G	(Likely) benign	2 labs	2f517aa086
2:179548028 TTN A>T	2	179548028	179548028	A	T	TTN	c.32807-10T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179548028A>T	(Likely) benign	4 labs	2f5a4262c9
7:82581488 PCLO T>TTCA	7	82581488	82581493	T	TTCA	PCLO	c.8778_8780dup	NM_033026.6	NP_149015.2:p.(Asp2926dup)	NC_000007.13:g.82581491_82581493dup	(Likely) benign	2 labs	2f6a3016b4
10:88446937 LDB3 G>A	10	88446937	88446937	G	A	LDB3	c.801G>A	NM_001171610.2	NP_001165081.1:p.(Ala267=)	NC_000010.10:g.88446937G>A	(Likely) benign	2 labs	2f669a2643
1:78407852 NEXN A>G	1	78407852	78407852	A	G	NEXN	c.1618A>G	NM_144573.4	NP_653174.3:p.(Met540Val)	NC_000001.10:g.78407852A>G	(Likely) benign	2 labs	2f82985c30
6:100868751 SIM1 G>A	6	100868751	100868751	G	A	SIM1	c.1082C>T	NM_005068.3	NP_005059.2:p.(Thr361Ile)	NC_000006.11:g.100868751G>A	(Likely) benign	2 labs	2f89b5fc9e
1:35250457 GJB3 C>T	1	35250457	35250457	C	T	GJB3	c.94C>T	NM_024009.3	NP_076872.1:p.(Arg32Trp)	NC_000001.10:g.35250457C>T	(Likely) benign	2 labs	2f983faa4b
16:68867387 CDH1 C>T	16	68867387	68867387	C	T	CDH1	c.2634C>T	NM_004360.5	NP_004351.1:p.(Gly878=)	NC_000016.9:g.68867387C>T	(Likely) benign	2 labs	2f9b301492
1:211280724 KCNH1 TAA>T	1	211280724	211280738	TAA	T	KCNH1	c.80-7_80-6del	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211280737_211280738del	(Likely) benign	4 labs	2fad17873d
X:8504901 ANOS1 G>T	X	8504901	8504901	G	T	ANOS1	c.1532C>A	NM_000216.4	NP_000207.2:p.(Ser511Tyr)	NC_000023.10:g.8504901G>T	(Likely) benign	4 labs	2fbb939c6b
9:135202230 SETX A>C	9	135202230	135202230	A	C	SETX	c.4755T>G	NM_015046.7	NP_055861.3:p.(Pro1585=)	NC_000009.11:g.135202230A>C	(Likely) benign	3 labs	2fc57f2ed6
12:124297903 DNAH10 C>T	12	124297903	124297903	C	T	DNAH10	c.2983C>T	NM_207437.3	NP_997320.2:p.(Arg995Trp)	NC_000012.11:g.124297903C>T	(Likely) benign	2 labs	2fccff4d50
11:66283413 BBS1 C>G	11	66283413	66283413	C	G	BBS1	c.591+9C>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283413C>G	(Likely) benign	2 labs	2fdef54bc5
3:24164510 THRB A>G	3	24164510	24164510	A	G	THRB	c.1251T>C	NM_001252634.2	NP_001239563.1:p.(Phe417=)	NC_000003.11:g.24164510A>G	(Likely) benign	2 labs	2fe695a981
5:149772280 TCOF1 C>G	5	149772280	149772280	C	G	TCOF1	c.3527C>G	NM_001135243.2	NP_001128715.1:p.(Pro1176Arg)	NC_000005.9:g.149772280C>G	(Likely) benign	2 labs	2feecfdf2e
10:89725121 PTEN T>C	10	89725121	89725121	T	C	PTEN	c.1104T>C	NM_000314.8	NP_000305.3:p.(Asp368=)	NC_000010.10:g.89725121T>C	(Likely) benign	2 labs	2ff3b12c66
8:100155318 VPS13B G>A	8	100155318	100155318	G	A	VPS13B	c.1768G>A	NM_017890.5	NP_060360.3:p.(Ala590Thr)	NC_000008.10:g.100155318G>A	(Likely) benign	3 labs	2ff93a29fc
21:47423015 COL6A1 C>T	21	47423015	47423015	C	T	COL6A1	c.2435-19C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47423015C>T	(Likely) benign	3 labs	2ff970d177
19:10883157 DNM2 C>T	19	10883157	10883157	C	T	DNM2	c.238C>T	NM_001005360.3	NP_001005360.1:p.(His80Tyr)	NC_000019.9:g.10883157C>T	(Likely) benign	2 labs	2ffac4ea28
19:38976275 RYR1 C>T	19	38976275	38976275	C	T	RYR1	c.4980C>T	NM_000540.3	NP_000531.2:p.(Arg1660=)	NC_000019.9:g.38976275C>T	(Likely) benign	2 labs	300bd3a7f0
22:50682728 TUBGCP6 G>C	22	50682728	50682728	G	C	TUBGCP6	c.161C>G	NM_020461.4	NP_065194.3:p.(Thr54Ser)	NC_000022.10:g.50682728G>C	(Likely) benign	2 labs	3016a4a002
2:47135008 MCFD2 CA>C	2	47135008	47135009	CA	C	MCFD2	c.249del	NM_001171508.2	NP_001164979.1:p.(Asp83GlufsTer9)	NC_000002.11:g.47135009del	(Likely) pathogenic	2 labs	301f4daa9a
5:127597488 FBN2 G>A	5	127597488	127597488	G	A	FBN2	c.8304C>T	NM_001999.4	NP_001990.2:p.(Asn2768=)	NC_000005.9:g.127597488G>A	(Likely) benign	3 labs	303725595d
15:73617456 HCN4 G>A	15	73617456	73617456	G	A	HCN4	c.1818C>T	NM_005477.3	NP_005468.1:p.(Ser606=)	NC_000015.9:g.73617456G>A	(Likely) benign	3 labs	303bfeac65
10:112572513 RBM20 C>T	10	112572513	112572513	C	T	RBM20	c.2358C>T	NM_001134363.3	NP_001127835.2:p.(Asp786=)	NC_000010.10:g.112572513C>T	(Likely) benign	2 labs	304058d456
11:17526184 USH1C A>G	11	17526184	17526184	A	G	USH1C	c.2184+10T>C	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17526184A>G	(Likely) benign	2 labs	30429897be
16:17232391 XYLT1 G>A	16	17232391	17232391	G	A	XYLT1	c.1588-3C>T	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17232391G>A	(Likely) benign	3 labs	3049f9202f
2:47703678 MSH2 G>C	2	47703678	47703678	G	C	MSH2	c.2178G>C	NM_000251.3	NP_000242.1:p.(Met726Ile)	NC_000002.11:g.47703678G>C	VUS	2 labs	3053fbbe71
14:90429749 TDP1 A>G	14	90429749	90429749	A	G	TDP1	c.291A>G	NM_018319.4	NP_060789.2:p.(Gln97=)	NC_000014.8:g.90429749A>G	(Likely) benign	3 labs	3055c118e7
17:40690394 NAGLU A>G	17	40690394	40690394	A	G	NAGLU	c.569A>G	NM_000263.4	NP_000254.2:p.(Asn190Ser)	NC_000017.10:g.40690394A>G	VUS	2 labs	3059e8c59a
2:179664625 TTN ACTT>A	2	179664625	179664635	ACTT	A	TTN	c.593_595del	NM_001267550.2	NP_001254479.2:p.(Glu198del)	NC_000002.11:g.179664633_179664635del	VUS	4 labs	3060fd46f9
14:102446038 DYNC1H1 T>C	14	102446038	102446038	T	C	DYNC1H1	c.519-18T>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102446038T>C	(Likely) benign	2 labs	3063d9e585
20:57478780 GNAS C>T	20	57478780	57478780	C	T	GNAS	c.366C>T	NM_000516.7	NP_000507.1:p.(Pro122=)	NC_000020.10:g.57478780C>T	(Likely) benign	3 labs	30659a2f1a
16:88799005 PIEZO1 T>C	16	88799005	88799005	T	C	PIEZO1	c.2790+10A>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799005T>C	(Likely) benign	2 labs	3074fdeb0b
19:50774730 MYH14 C>T	19	50774730	50774730	C	T	MYH14	c.3098C>T	NM_001145809.2	NP_001139281.1:p.(Thr1033Met)	NC_000019.9:g.50774730C>T	VUS	3 labs	307bf9b6fe
15:72103957 NR2E3 C>T	15	72103957	72103957	C	T	NR2E3	c.245+8C>T	NM_016346.4	NP_057430.1:p.?	NC_000015.9:g.72103957C>T	(Likely) benign	2 labs	3087c2e667
1:45293709 PTCH2 G>T	1	45293709	45293709	G	T	PTCH2	c.1864C>A	NM_003738.5	NP_003729.3:p.(His622Asn)	NC_000001.10:g.45293709G>T	(Likely) benign	3 labs	308c6a0a67
13:52524520 ATP7B G>A	13	52524520	52524520	G	A	ATP7B	c.2463C>T	NM_000053.4	NP_000044.2:p.(Pro821=)	NC_000013.10:g.52524520G>A	(Likely) benign	2 labs	308c9fdb8a
15:48734026 FBN1 C>T	15	48734026	48734026	C	T	FBN1	c.6055G>A	NM_000138.5	NP_000129.3:p.(Glu2019Lys)	NC_000015.9:g.48734026C>T	VUS	4 labs	30916f234c
9:98221982 PTCH1 G>A	9	98221982	98221982	G	A	PTCH1	c.2787C>T	NM_000264.5	NP_000255.2:p.(Asn929=)	NC_000009.11:g.98221982G>A	(Likely) benign	3 labs	3092f8247f
6:1611574 FOXC1 C>T	6	1611574	1611574	C	T	FOXC1	c.894C>T	NM_001453.3	NP_001444.2:p.(Ser298=)	NC_000006.11:g.1611574C>T	(Likely) benign	2 labs	309bf62b23
9:133556992 PRDM12 TCGCCGCCGCCGCCGCCGC>T	9	133556992	133557028	TCGCCGCCGCCGCCGCCGC	T	PRDM12	c.1059_1076del	NM_021619.3	NP_067632.2:p.(Ala354_Ala359del)	NC_000009.11:g.133557011_133557028del	(Likely) benign	3 labs	309f80e7cc
19:55665589 TNNI3 G>C	19	55665589	55665589	G	C	TNNI3	c.373-15C>G	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55665589G>C	(Likely) benign	3 labs	30a46b75dd
11:34969109 PDHX G>GTTA	11	34969109	34969112	G	GTTA	PDHX	c.299_301dup	NM_003477.3	NP_003468.2:p.(Val100_Thr101insIle)	NC_000011.9:g.34969110_34969112dup	VUS	2 labs	30ab5f7885
19:7032665 MBD3L5 A>G	19	7032665	7032665	A	G	MBD3L5	c.387A>G	NM_001136507.2	NP_001129979.1:p.(Arg129=)	NC_000019.9:g.7032665A>G	(Likely) benign	2 labs	30e5bfd90a
1:116243874 CASQ2 ATCG>A	1	116243874	116243879	ATCG	A	CASQ2	c.1185_1187del	NM_001232.4	NP_001223.2:p.(Asp398del)	NC_000001.10:g.116243877_116243879del	(Likely) benign	4 labs	30ad13f51b
17:44039691 MAPT A>G	17	44039691	44039691	A	G	MAPT	c.-13A>G	NM_001123066.4	NP_001116538.2:p.?	NC_000017.10:g.44039691A>G	(Likely) benign	3 labs	30b5b920d0
16:17292204 XYLT1 G>A	16	17292204	17292204	G	A	XYLT1	c.1154C>T	NM_022166.4	NP_071449.1:p.(Pro385Leu)	NC_000016.9:g.17292204G>A	(Likely) benign	3 labs	30b73af401
5:127686594 FBN2 G>A	5	127686594	127686594	G	A	FBN2	c.2778C>T	NM_001999.4	NP_001990.2:p.(Ala926=)	NC_000005.9:g.127686594G>A	(Likely) benign	2 labs	30ca70ee3b
14:76249702 TTLL5 G>A	14	76249702	76249702	G	A	TTLL5	c.2815G>A	NM_015072.5	NP_055887.3:p.(Val939Ile)	NC_000014.8:g.76249702G>A	(Likely) benign	2 labs	30cb7dd138
21:47424187 COL6A1 A>G	21	47424187	47424187	A	G	COL6A1	c.*260A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47424187A>G	(Likely) benign	2 labs	30cec393ba
14:23885313 MYH7 A>G	14	23885313	23885313	A	G	MYH7	c.4853T>C	NM_000257.4	NP_000248.2:p.(Met1618Thr)	NC_000014.8:g.23885313A>G	VUS	3 labs	30d402ce72
7:112102051 IFRD1 A>G	7	112102051	112102051	A	G	IFRD1	c.619-5A>G	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112102051A>G	(Likely) benign	3 labs	30db6c4885
10:112595630 RBM20 A>G	10	112595630	112595630	A	G	RBM20	c.3578A>G	NM_001134363.3	NP_001127835.2:p.(Tyr1193Cys)	NC_000010.10:g.112595630A>G	VUS	4 labs	30eb8ff354
2:48030686 MSH6 G>A	2	48030686	48030686	G	A	MSH6	c.3300G>A	NM_000179.3	NP_000170.1:p.(Thr1100=)	NC_000002.11:g.48030686G>A	(Likely) benign	2 labs	30f8089127
15:48756220 FBN1 T>C	15	48756220	48756220	T	C	FBN1	c.4943-2A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756220T>C	(Likely) pathogenic	2 labs	30fa6b045f
16:67693536 ACD A>AG	16	67693536	67693543	A	AG	ACD	c.337-21dup	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67693543dup	(Likely) benign	2 labs	30fb6b49a1
19:12767448 MAN2B1 C>T	19	12767448	12767448	C	T	MAN2B1	c.1581G>A	NM_000528.4	NP_000519.2:p.(Arg527=)	NC_000019.9:g.12767448C>T	(Likely) benign	2 labs	30fe9c6d42
2:179473603 TTN C>G	2	179473603	179473603	C	G	TTN	c.52135G>C	NM_001267550.2	NP_001254479.2:p.(Glu17379Gln)	NC_000002.11:g.179473603C>G	VUS	2 labs	312f4c1de2
19:3110349 GNA11 T>G	19	3110349	3110349	T	G	GNA11	c.321+18T>G	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3110349T>G	(Likely) benign	2 labs	3110b26a85
1:216061912 USH2A C>T	1	216061912	216061912	C	T	USH2A	c.8079G>A	NM_206933.4	NP_996816.3:p.(Trp2693Ter)	NC_000001.10:g.216061912C>T	(Likely) pathogenic	3 labs	31175b8ced
17:41245987 BRCA1 C>T	17	41245987	41245987	C	T	BRCA1	c.1561G>A	NM_007294.4	NP_009225.1:p.(Ala521Thr)	NC_000017.10:g.41245987C>T	(Likely) benign	2 labs	311d989158
8:55540692 RP1 T>C	8	55540692	55540692	T	C	RP1	c.4250T>C	NM_006269.2	NP_006260.1:p.(Leu1417Pro)	NC_000008.10:g.55540692T>C	(Likely) benign	2 labs	31209fa5a1
2:179435734 TTN A>G	2	179435734	179435734	A	G	TTN	c.75125T>C	NM_001267550.2	NP_001254479.2:p.(Ile25042Thr)	NC_000002.11:g.179435734A>G	VUS	2 labs	31267cf797
16:23647575 PALB2 T>C	16	23647575	23647575	T	C	PALB2	c.292A>G	NM_024675.4	NP_078951.2:p.(Ile98Val)	NC_000016.9:g.23647575T>C	(Likely) benign	2 labs	312b607a33
17:59857660 BRIP1 T>G	17	59857660	59857660	T	G	BRIP1	c.1897A>C	NM_032043.3	NP_114432.2:p.(Ile633Leu)	NC_000017.10:g.59857660T>G	VUS	2 labs	312e9ee9b5
4:106395181 PPA2 G>GCGCAGCAGC	4	106395181	106395199	G	GCGCAGCAGC	PPA2	c.18_26dup	NM_176869.3	NP_789845.1:p.(Leu7_Arg9dup)	NC_000004.11:g.106395191_106395199dup	VUS	2 labs	3131aab5dd
10:89717712 PTEN C>T	10	89717712	89717712	C	T	PTEN	c.737C>T	NM_000314.8	NP_000305.3:p.(Pro246Leu)	NC_000010.10:g.89717712C>T	(Likely) pathogenic	4 labs	313a98a59d
15:35083508 ACTC1 TCA>T	15	35083508	35083554	TCA	T	ACTC1	c.809-14_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083553_35083554del	(Likely) benign	3 labs	31485b59ac
11:1776123 CTSD A>G	11	1776123	1776123	A	G	CTSD	c.827+13T>C	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1776123A>G	(Likely) benign	2 labs	314e61d183
14:88450770 GALC G>A	14	88450770	88450770	G	A	GALC	c.550C>T	NM_000153.4	NP_000144.2:p.(Arg184Cys)	NC_000014.8:g.88450770G>A	(Likely) benign	3 labs	31569d7af2
16:89999855 TUBB3 C>G	16	89999855	89999855	C	G	TUBB3	c.-50-21C>G	NM_001197181.2	NP_001184110.1:p.?	NC_000016.9:g.89999855C>G	(Likely) benign	2 labs	315a0794e9
1:91404792 ZNF644 T>C	1	91404792	91404792	T	C	ZNF644	c.2119A>G	NM_201269.3	NP_958357.1:p.(Lys707Glu)	NC_000001.10:g.91404792T>C	(Likely) benign	2 labs	315b355c65
10:121436068 BAG3 T>G	10	121436068	121436068	T	G	BAG3	c.1002T>G	NM_004281.4	NP_004272.2:p.(Pro334=)	NC_000010.10:g.121436068T>G	(Likely) benign	2 labs	315e7e0563
6:33138109 COL11A2 G>A	6	33138109	33138109	G	A	COL11A2	c.3576C>T	NM_080680.3	NP_542411.2:p.(Gly1192=)	NC_000006.11:g.33138109G>A	(Likely) benign	2 labs	3161cf38fe
2:179566333 TTN T>C	2	179566333	179566333	T	C	TTN	c.30539-19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566333T>C	(Likely) benign	2 labs	316e8129b5
12:971317 WNK1 A>G	12	971317	971317	A	G	WNK1	c.2020A>G	NM_001184985.2	NP_001171914.1:p.(Thr674Ala)	NC_000012.11:g.971317A>G	(Likely) benign	2 labs	3169b6d672
12:33031108 PKP2 C>A	12	33031108	33031108	C	A	PKP2	c.706G>T	NM_004572.4	NP_004563.2:p.(Ala236Ser)	NC_000012.11:g.33031108C>A	(Likely) benign	4 labs	316c90e413
1:156106999 LMNA G>A	1	156106999	156106999	G	A	LMNA	c.1584G>A	NM_170707.4	NP_733821.1:p.(Thr528=)	NC_000001.10:g.156106999G>A	(Likely) benign	3 labs	31806c3390
14:23871760 MYH6 T>C	14	23871760	23871760	T	C	MYH6	c.1054A>G	NM_002471.4	NP_002462.2:p.(Lys352Glu)	NC_000014.8:g.23871760T>C	VUS	2 labs	3185dca26e
10:69955253 MYPN T>A	10	69955253	69955253	T	A	MYPN	c.3122T>A	NM_032578.4	NP_115967.2:p.(Ile1041Asn)	NC_000010.10:g.69955253T>A	(Likely) benign	2 labs	3184d3f86b
9:139404341 NOTCH1 C>T	9	139404341	139404341	C	T	NOTCH1	c.2813G>A	NM_017617.5	NP_060087.3:p.(Arg938Gln)	NC_000009.11:g.139404341C>T	(Likely) benign	2 labs	3185adf218
5:127624841 FBN2 G>A	5	127624841	127624841	G	A	FBN2	c.6615C>T	NM_001999.4	NP_001990.2:p.(Asp2205=)	NC_000005.9:g.127624841G>A	(Likely) benign	2 labs	318d1416a9
2:179650794 TTN G>A	2	179650794	179650794	G	A	TTN	c.2151C>T	NM_001267550.2	NP_001254479.2:p.(Pro717=)	NC_000002.11:g.179650794G>A	(Likely) benign	2 labs	319115c77b
1:3347643 PRDM16 C>T	1	3347643	3347643	C	T	PRDM16	c.3492C>T	NM_022114.4	NP_071397.3:p.(Ser1164=)	NC_000001.10:g.3347643C>T	(Likely) benign	3 labs	319aa40686
10:55626394 PCDH15 C>G	10	55626394	55626394	C	G	PCDH15	c.3732+8G>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55626394C>G	(Likely) benign	2 labs	319ecc5f9d
8:10480223 RP1L1 G>T	8	10480223	10480223	G	T	RP1L1	c.489C>A	NM_178857.6	NP_849188.4:p.(Arg163=)	NC_000008.10:g.10480223G>T	(Likely) benign	2 labs	31a35d18e2
16:53721875 RPGRIP1L T>C	16	53721875	53721875	T	C	RPGRIP1L	c.532A>G	NM_015272.5	NP_056087.2:p.(Ile178Val)	NC_000016.9:g.53721875T>C	(Likely) benign	2 labs	31a40fe5f5
6:7584425 DSP A>G	6	7584425	7584425	A	G	DSP	c.6930A>G	NM_004415.4	NP_004406.2:p.(Leu2310=)	NC_000006.11:g.7584425A>G	(Likely) benign	3 labs	31a5072089
14:77493791 IRF2BPL C>T	14	77493791	77493791	C	T	IRF2BPL	c.345G>A	NM_024496.4	NP_078772.1:p.(Gln115=)	NC_000014.8:g.77493791C>T	(Likely) benign	2 labs	31a5caded9
14:45628478 FANCM C>G	14	45628478	45628478	C	G	FANCM	c.1576C>G	NM_020937.4	NP_065988.1:p.(Leu526Val)	NC_000014.8:g.45628478C>G	(Likely) benign	2 labs	31b0f46b9e
7:151875100 KMT2C TAA>T	7	151875100	151875127	TAA	T	KMT2C	c.7443-7_7443-6del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875126_151875127del	(Likely) benign	3 labs	31b39624eb
20:45354491 SLC2A10 C>G	20	45354491	45354491	C	G	SLC2A10	c.816C>G	NM_030777.4	NP_110404.1:p.(Ala272=)	NC_000020.10:g.45354491C>G	(Likely) benign	3 labs	31b45cd084
1:237841339 RYR2 A>C	1	237841339	237841339	A	C	RYR2	c.8831-9A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237841339A>C	(Likely) benign	2 labs	31c1a293bf
2:179650681 TTN G>A	2	179650681	179650681	G	A	TTN	c.2264C>T	NM_001267550.2	NP_001254479.2:p.(Ser755Leu)	NC_000002.11:g.179650681G>A	(Likely) benign	2 labs	31c1e6920a
2:179412750 TTN G>A	2	179412750	179412750	G	A	TTN	c.93603C>T	NM_001267550.2	NP_001254479.2:p.(Phe31201=)	NC_000002.11:g.179412750G>A	(Likely) benign	2 labs	31c6625a7f
15:44858173 SPG11 C>T	15	44858173	44858173	C	T	SPG11	c.6878G>A	NM_025137.4	NP_079413.3:p.(Arg2293Gln)	NC_000015.9:g.44858173C>T	VUS	3 labs	31de1aa0d4
8:10480144 RP1L1 G>A	8	10480144	10480144	G	A	RP1L1	c.568C>T	NM_178857.6	NP_849188.4:p.(Arg190Cys)	NC_000008.10:g.10480144G>A	(Likely) benign	3 labs	31e13a0d60
14:21793459 RPGRIP1 C>T	14	21793459	21793459	C	T	RPGRIP1	c.2284C>T	NM_020366.4	NP_065099.3:p.(Leu762=)	NC_000014.8:g.21793459C>T	(Likely) benign	3 labs	31ec3b1bee
14:105173862 INF2 ACCCCAC>A	14	105173862	105173889	ACCCCAC	A	INF2	c.1280_1285del	NM_022489.4	NP_071934.3:p.(Pro427_Pro428del)	NC_000014.8:g.105173884_105173889del	(Likely) benign	2 labs	31ecff78f4
16:88782463 PIEZO1 G>A	16	88782463	88782463	G	A	PIEZO1	c.7194C>T	NM_001142864.4	NP_001136336.2:p.(Thr2398=)	NC_000016.9:g.88782463G>A	(Likely) benign	2 labs	31f335f867
2:96950323 SNRNP200 C>T	2	96950323	96950323	C	T	SNRNP200	c.4165G>A	NM_014014.5	NP_054733.2:p.(Val1389Ile)	NC_000002.11:g.96950323C>T	(Likely) benign	2 labs	3204681997
8:145739404 RECQL4 G>A	8	145739404	145739404	G	A	RECQL4	c.1966C>T	NM_004260.4	NP_004251.4:p.(Leu656=)	NC_000008.10:g.145739404G>A	(Likely) benign	2 labs	320fa76dee
4:15570997 CC2D2A G>T	4	15570997	15570997	G	T	CC2D2A	c.3480G>T	NM_001080522.2	NP_001073991.2:p.(Leu1160=)	NC_000004.11:g.15570997G>T	(Likely) benign	3 labs	3214145e6b
3:148904434 CP T>G	3	148904434	148904434	T	G	CP	c.1950A>C	NM_000096.4	NP_000087.2:p.(Gly650=)	NC_000003.11:g.148904434T>G	(Likely) benign	3 labs	32172e53d4
16:3639039 SLX4 C>T	16	3639039	3639039	C	T	SLX4	c.4600G>A	NM_032444.4	NP_115820.2:p.(Gly1534Ser)	NC_000016.9:g.3639039C>T	(Likely) benign	2 labs	32225f5de7
15:44855508 SPG11 A>AGAAAC	15	44855508	44855513	A	AGAAAC	SPG11	c.7152-14_7152-10dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44855509_44855513dup	(Likely) benign	2 labs	32341bb6e3
20:25371237 ABHD12 G>A	20	25371237	25371237	G	A	ABHD12	c.103C>T	NM_001042472.3	NP_001035937.1:p.(Arg35Cys)	NC_000020.10:g.25371237G>A	VUS	2 labs	324392ee40
X:40450585 ATP6AP2 C>G	X	40450585	40450585	C	G	ATP6AP2	c.268C>G	NM_005765.3	NP_005756.2:p.(Pro90Ala)	NC_000023.10:g.40450585C>G	(Likely) benign	3 labs	324a9c46fe
17:7750177 KDM6B TACC>T	17	7750177	7750216	TACC	T	KDM6B	c.789_791del	NM_001080424.2	NP_001073893.1:p.(Pro264del)	NC_000017.10:g.7750214_7750216del	(Likely) benign	3 labs	325415648d
2:165946711 SCN3A G>A	2	165946711	165946711	G	A	SCN3A	c.5952C>T	NM_006922.4	NP_008853.3:p.(Asp1984=)	NC_000002.11:g.165946711G>A	(Likely) benign	2 labs	3256ee9a6f
4:114277907 ANK2 G>A	4	114277907	114277907	G	A	ANK2	c.8274G>A	NM_001386174.1	NP_001373103.1:p.(Gln2758=)	NC_000004.11:g.114277907G>A	(Likely) benign	2 labs	326aa58471
6:32009641 TNXB G>A	6	32009641	32009641	G	A	TNXB	c.12534C>T	NM_019105.8	NP_061978.6:p.(Ile4178=)	NC_000006.11:g.32009641G>A	(Likely) benign	2 labs	3270db8bbf
4:1801542 FGFR3 A>G	4	1801542	1801542	A	G	FGFR3	c.445+3A>G	NM_001163213.2	NP_001156685.1:p.?	NC_000004.11:g.1801542A>G	(Likely) benign	4 labs	3278dee775
11:123508896 SCN3B G>A	11	123508896	123508896	G	A	SCN3B	c.582C>T	NM_018400.4	NP_060870.1:p.(Asn194=)	NC_000011.9:g.123508896G>A	(Likely) benign	2 labs	327e532c27
19:4090577 MAP2K2 G>A	19	4090577	4090577	G	A	MAP2K2	c.*19C>T	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4090577G>A	(Likely) benign	2 labs	3284d3bbf4
22:50885649 SBF1 A>G	22	50885649	50885649	A	G	SBF1	c.5604T>C	NM_002972.4	NP_002963.2:p.(Val1868=)	NC_000022.10:g.50885649A>G	(Likely) benign	2 labs	3287896982
6:66005880 EYS T>C	6	66005880	66005880	T	C	EYS	c.1899A>G	NM_001292009.2	NP_001278938.1:p.(Gln633=)	NC_000006.11:g.66005880T>C	(Likely) benign	2 labs	3293359ec3
11:67809268 TCIRG1 C>T	11	67809268	67809268	C	T	TCIRG1	c.166C>T	NM_006019.4	NP_006010.2:p.(Arg56Trp)	NC_000011.9:g.67809268C>T	(Likely) benign	3 labs	329a3ecea2
2:166903479 SCN1A C>T	2	166903479	166903479	C	T	SCN1A	c.1178G>A	NM_001202435.3	NP_001189364.1:p.(Arg393His)	NC_000002.11:g.166903479C>T	(Likely) pathogenic	2 labs	329d03f4fd
11:108203468 ATM T>G	11	108203468	108203468	T	G	ATM	c.7789-21T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108203468T>G	(Likely) benign	3 labs	32a14408d9
15:72103931 NR2E3 G>A	15	72103931	72103931	G	A	NR2E3	c.227G>A	NM_016346.4	NP_057430.1:p.(Arg76Gln)	NC_000015.9:g.72103931G>A	(Likely) pathogenic	2 labs	32a26fe3c0
18:21114440 NPC1 C>A	18	21114440	21114440	C	A	NPC1	c.3561G>T	NM_000271.5	NP_000262.2:p.(Ala1187=)	NC_000018.9:g.21114440C>A	(Likely) benign	4 labs	32a7bcd83a
X:153596477 FLNA C>T	X	153596477	153596477	C	T	FLNA	c.374-19G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153596477C>T	(Likely) benign	2 labs	32b5f4e3b3
X:139586617 SOX3 A>G	X	139586617	139586617	A	G	SOX3	c.609T>C	NM_005634.3	NP_005625.2:p.(Tyr203=)	NC_000023.10:g.139586617A>G	(Likely) benign	2 labs	32c8a54653
2:179499273 TTN G>A	2	179499273	179499273	G	A	TTN	c.42235C>T	NM_001267550.2	NP_001254479.2:p.(Arg14079Ter)	NC_000002.11:g.179499273G>A	(Likely) pathogenic	4 labs	32d16b6823
17:42428393 GRN G>C	17	42428393	42428393	G	C	GRN	c.709-12G>C	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42428393G>C	(Likely) benign	2 labs	32d1117d38
18:31323203 ASXL3 C>T	18	31323203	31323203	C	T	ASXL3	c.3391C>T	NM_030632.3	NP_085135.1:p.(Pro1131Ser)	NC_000018.9:g.31323203C>T	(Likely) benign	3 labs	32ec4b6a36
10:78651385 KCNMA1 G>A	10	78651385	78651385	G	A	KCNMA1	c.3168C>T	NM_001322830.2	NP_001309759.1:p.(Asn1056=)	NC_000010.10:g.78651385G>A	(Likely) benign	3 labs	32fb400f59
6:152717896 SYNE1 T>C	6	152717896	152717896	T	C	SYNE1	c.7556+14A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152717896T>C	(Likely) benign	3 labs	32fecf09a7
6:129371205 LAMA2 C>T	6	129371205	129371205	C	T	LAMA2	c.255C>T	NM_000426.4	NP_000417.3:p.(Ile85=)	NC_000006.11:g.129371205C>T	(Likely) benign	3 labs	32ff42bf93
12:110029039 MVK T>G	12	110029039	110029039	T	G	MVK	c.769-7T>G	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110029039T>G	(Likely) benign	4 labs	3302631c9b
10:88459059 LDB3 C>T	10	88459059	88459059	C	T	LDB3	c.1125C>T	NM_001171611.2	NP_001165082.1:p.(Asn375=)	NC_000010.10:g.88459059C>T	(Likely) benign	3 labs	3305f484a5
2:44066174 ABCG8 T>G	2	44066174	44066174	T	G	ABCG8	c.-19T>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066174T>G	(Likely) benign	2 labs	3314737078
10:121431952 BAG3 G>A	10	121431952	121431952	G	A	BAG3	c.693G>A	NM_004281.4	NP_004272.2:p.(Thr231=)	NC_000010.10:g.121431952G>A	(Likely) benign	3 labs	331bb32105
3:184037533 EIF4G1 A>G	3	184037533	184037533	A	G	EIF4G1	c.481=	NM_182917.4	NP_886553.3:p.(Ala161=)	NC_000003.11:g.184037533A>G	(Likely) benign	3 labs	33201a6d1c
3:123451743 MYLK T>C	3	123451743	123451743	T	C	MYLK	c.1516A>G	NM_053025.4	NP_444253.3:p.(Arg506Gly)	NC_000003.11:g.123451743T>C	(Likely) benign	3 labs	332d4984ad
11:62159582 ASRGL1 G>A	11	62159582	62159582	G	A	ASRGL1	c.753G>A	NM_001083926.2	NP_001077395.1:p.(Ser251=)	NC_000011.9:g.62159582G>A	(Likely) benign	2 labs	3331d66052
11:65305450 SCYL1 G>A	11	65305450	65305450	G	A	SCYL1	c.2044G>A	NM_020680.4	NP_065731.3:p.(Asp682Asn)	NC_000011.9:g.65305450G>A	(Likely) benign	2 labs	333408d64c
5:149513184 PDGFRB T>C	5	149513184	149513184	T	C	PDGFRB	c.899A>G	NM_002609.4	NP_002600.1:p.(His300Arg)	NC_000005.9:g.149513184T>C	(Likely) benign	2 labs	333d0a12c2
3:71830676 PROK2 AT>A	3	71830676	71830677	AT	A	PROK2	c.163del	NM_001126128.2	NP_001119600.1:p.(Ile55Ter)	NC_000003.11:g.71830677del	(Likely) pathogenic	4 labs	334abfbce6
6:76728583 IMPG1 T>TA	6	76728583	76728597	T	TA	IMPG1	c.667-9dup	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76728597dup	(Likely) benign	2 labs	334eccdcea
3:114069675 ZBTB20 G>C	3	114069675	114069675	G	C	ZBTB20	c.1250C>G	NM_001348803.3	NP_001335732.1:p.(Ala417Gly)	NC_000003.11:g.114069675G>C	(Likely) benign	3 labs	3356536993
1:215847644 USH2A G>A	1	215847644	215847644	G	A	USH2A	c.13609C>T	NM_206933.4	NP_996816.3:p.(Pro4537Ser)	NC_000001.10:g.215847644G>A	VUS	2 labs	33595e00d9
4:15981529 PROM1 T>C	4	15981529	15981529	T	C	PROM1	c.2463-2A>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15981529T>C	(Likely) pathogenic	2 labs	335aa54156
X:9714172 GPR143 G>A	X	9714172	9714172	G	A	GPR143	c.570C>T	NM_000273.3	NP_000264.2:p.(His190=)	NC_000023.10:g.9714172G>A	(Likely) benign	2 labs	3361808402
17:39912414 JUP G>A	17	39912414	39912414	G	A	JUP	c.2086+13C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39912414G>A	(Likely) benign	2 labs	337443a9aa
1:237946964 RYR2 T>C	1	237946964	237946964	T	C	RYR2	c.11963-11T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237946964T>C	(Likely) benign	2 labs	3375df2b56
2:21229160 APOB C>T	2	21229160	21229160	C	T	APOB	c.10580G>A	NM_000384.3	NP_000375.3:p.(Arg3527Gln)	NC_000002.11:g.21229160C>T	(Likely) pathogenic	2 labs	337f63ec4b
12:2797598 CACNA1C C>A	12	2797598	2797598	C	A	CACNA1C	c.6034-15C>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2797598C>A	(Likely) benign	2 labs	337f234a54
2:179578783 TTN T>G	2	179578783	179578783	T	G	TTN	c.22870A>C	NM_133378.4	NP_596869.4:p.(Lys7624Gln)	NC_000002.11:g.179578783T>G	VUS	2 labs	3381d75024
6:56569113 DST T>C	6	56569113	56569113	T	C	DST	c.742A>G	NM_001144769.5	NP_001138241.1:p.(Ile248Val)	NC_000006.11:g.56569113T>C	VUS	2 labs	33880c5a18
11:121456962 SORL1 C>T	11	121456962	121456962	C	T	SORL1	c.3738C>T	NM_003105.6	NP_003096.2:p.(Asn1246=)	NC_000011.9:g.121456962C>T	(Likely) benign	2 labs	338a98a630
14:23874971 MYH6 A>G	14	23874971	23874971	A	G	MYH6	c.210T>C	NM_002471.4	NP_002462.2:p.(Thr70=)	NC_000014.8:g.23874971A>G	(Likely) benign	2 labs	3391c4a556
12:76740088 BBS10 G>A	12	76740088	76740088	G	A	BBS10	c.1677C>T	NM_024685.4	NP_078961.3:p.(Tyr559=)	NC_000012.11:g.76740088G>A	(Likely) benign	2 labs	33a13df2ae
12:6572006 VAMP1 G>A	12	6572006	6572006	G	A	VAMP1	c.343C>T	NM_016830.4	NP_058439.1:p.(Arg115Trp)	NC_000012.11:g.6572006G>A	(Likely) benign	3 labs	33aaf97cd3
1:12064993 MFN2 C>T	1	12064993	12064993	C	T	MFN2	c.1495+9C>T	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12064993C>T	(Likely) benign	3 labs	33b0701449
10:69299333 CTNNA3 C>T	10	69299333	69299333	C	T	CTNNA3	c.387G>A	NM_013266.4	NP_037398.2:p.(Leu129=)	NC_000010.10:g.69299333C>T	(Likely) benign	3 labs	33b4089f40
2:242681922 D2HGDH C>T	2	242681922	242681922	C	T	D2HGDH	c.423C>T	NM_152783.5	NP_689996.4:p.(Pro141=)	NC_000002.11:g.242681922C>T	(Likely) benign	2 labs	33b5a58a09
17:29483047 NF1 C>G	17	29483047	29483047	C	G	NF1	c.107C>G	NM_001042492.3	NP_001035957.1:p.(Thr36Ser)	NC_000017.10:g.29483047C>G	(Likely) benign	2 labs	33b99e17c4
5:59189057 PDE4D G>A	5	59189057	59189057	G	A	PDE4D	c.393C>T	NM_001104631.2	NP_001098101.1:p.(Gly131=)	NC_000005.9:g.59189057G>A	(Likely) benign	2 labs	33bfa61c9d
19:16593359 CALR3 C>T	19	16593359	16593359	C	T	CALR3	c.820G>A	NM_145046.5	NP_659483.2:p.(Val274Ile)	NC_000019.9:g.16593359C>T	(Likely) benign	4 labs	33cdfaf79d
3:38603961 SCN5A C>T	3	38603961	38603961	C	T	SCN5A	c.3908G>A	NM_198056.3	NP_932173.1:p.(Arg1303Gln)	NC_000003.11:g.38603961C>T	VUS	2 labs	33db56b7dd
1:12009911 PLOD1 G>A	1	12009911	12009911	G	A	PLOD1	c.250G>A	NM_000302.4	NP_000293.2:p.(Ala84Thr)	NC_000001.10:g.12009911G>A	(Likely) benign	2 labs	33e1fbd498
2:175624069 CHRNA1 C>T	2	175624069	175624069	C	T	CHRNA1	c.224G>A	NM_001039523.3	NP_001034612.1:p.(Arg75His)	NC_000002.11:g.175624069C>T	VUS	2 labs	33eb3c25b4
18:21115567 NPC1 C>A	18	21115567	21115567	C	A	NPC1	c.3343G>T	NM_000271.5	NP_000262.2:p.(Val1115Phe)	NC_000018.9:g.21115567C>A	VUS	2 labs	33ee171e7f
7:47870811 PKD1L1 TCA>T	7	47870811	47870814	TCA	T	PKD1L1	c.6473+2_6473+3del	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47870813_47870814del	(Likely) pathogenic	2 labs	33f7f8e056
17:48695584 CACNA1G G>A	17	48695584	48695584	G	A	CACNA1G	c.5307G>A	NM_018896.5	NP_061496.2:p.(Glu1769=)	NC_000017.10:g.48695584G>A	(Likely) benign	2 labs	33f906464d
21:46924384 COL18A1 G>C	21	46924384	46924384	G	C	COL18A1	c.4027G>C	NM_130444.3	NP_569711.2:p.(Gly1343Arg)	NC_000021.8:g.46924384G>C	(Likely) benign	3 labs	340416fbce
17:1554166 PRPF8 T>C	17	1554166	1554166	T	C	PRPF8	c.6938A>G	NM_006445.4	NP_006436.3:p.(His2313Arg)	NC_000017.10:g.1554166T>C	VUS	2 labs	340a332196
19:38956839 RYR1 C>T	19	38956839	38956839	C	T	RYR1	c.2979C>T	NM_000540.3	NP_000531.2:p.(Asn993=)	NC_000019.9:g.38956839C>T	(Likely) benign	3 labs	3423ca7fed
1:26386794 TRIM63 A>G	1	26386794	26386794	A	G	TRIM63	c.560T>C	NM_032588.4	NP_115977.2:p.(Ile187Thr)	NC_000001.10:g.26386794A>G	VUS	2 labs	342a4a3b1a
15:73616518 HCN4 G>A	15	73616518	73616518	G	A	HCN4	c.2055C>T	NM_005477.3	NP_005468.1:p.(Ser685=)	NC_000015.9:g.73616518G>A	(Likely) benign	2 labs	342d1ae7d7
5:94814015 SKIC3 T>C	5	94814015	94814015	T	C	SKIC3	c.4344A>G	NM_014639.4	NP_055454.1:p.(Leu1448=)	NC_000005.9:g.94814015T>C	(Likely) benign	3 labs	34391e4c83
4:57777078 REST G>A	4	57777078	57777078	G	A	REST	c.274G>A	NM_005612.5	NP_005603.3:p.(Gly92Arg)	NC_000004.11:g.57777078G>A	(Likely) benign	2 labs	3442ce8616
2:179456491 TTN C>T	2	179456491	179456491	C	T	TTN	c.60055G>A	NM_001267550.2	NP_001254479.2:p.(Glu20019Lys)	NC_000002.11:g.179456491C>T	(Likely) benign	4 labs	3445b7365d
1:193205402 CDC73 G>A	1	193205402	193205402	G	A	CDC73	c.1333G>A	NM_024529.5	NP_078805.3:p.(Val445Ile)	NC_000001.10:g.193205402G>A	VUS	2 labs	344a0f1d21
7:94039107 COL1A2 G>A	7	94039107	94039107	G	A	COL1A2	c.1009G>A	NM_000089.4	NP_000080.2:p.(Gly337Ser)	NC_000007.13:g.94039107G>A	(Likely) pathogenic	2 labs	344b9e4eaa
20:34085870 CEP250 C>T	20	34085870	34085870	C	T	CEP250	c.3629C>T	NM_007186.6	NP_009117.2:p.(Ala1210Val)	NC_000020.10:g.34085870C>T	(Likely) benign	2 labs	344bb5e597
5:179260099 SQSTM1 G>C	5	179260099	179260099	G	C	SQSTM1	c.822G>C	NM_003900.5	NP_003891.1:p.(Glu274Asp)	NC_000005.9:g.179260099G>C	(Likely) benign	2 labs	344da81c4d
X:69898742 TEX11 GA>G	X	69898742	69898755	GA	G	TEX11	c.1202-4del	NM_001003811.2	NP_001003811.1:p.?	NC_000023.10:g.69898755del	(Likely) benign	2 labs	3452fa13e6
16:15931975 MYH11 G>A	16	15931975	15931975	G	A	MYH11	c.135C>T	NM_001040113.2	NP_001035202.1:p.(Phe45=)	NC_000016.9:g.15931975G>A	(Likely) benign	3 labs	3460d2cc90
5:127597518 FBN2 G>A	5	127597518	127597518	G	A	FBN2	c.8274C>T	NM_001999.4	NP_001990.2:p.(Ser2758=)	NC_000005.9:g.127597518G>A	(Likely) benign	2 labs	3478987608
22:19766782 TBX1 C>T	22	19766782	19766782	C	T	TBX1	c.1049C>T	NM_080646.2	NP_542377.1:p.(Thr350Met)	NC_000022.10:g.19766782C>T	(Likely) benign	2 labs	34812f4490
11:68201149 LRP5 C>T	11	68201149	68201149	C	T	LRP5	c.3843C>T	NM_002335.4	NP_002326.2:p.(Asp1281=)	NC_000011.9:g.68201149C>T	(Likely) benign	2 labs	34857fcdc1
5:156021908 SGCD CCTCTCTAT>C	5	156021908	156021932	CCTCTCTAT	C	SGCD	c.383-17_383-10del	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.156021925_156021932del	(Likely) benign	2 labs	348c9d5233
21:47406421 COL6A1 G>A	21	47406421	47406421	G	A	COL6A1	c.429-19G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47406421G>A	(Likely) benign	2 labs	348c26aa58
9:107599376 ABCA1 A>G	9	107599376	107599376	A	G	ABCA1	c.1196T>C	NM_005502.4	NP_005493.2:p.(Val399Ala)	NC_000009.11:g.107599376A>G	(Likely) benign	2 labs	3491119625
15:73007751 BBS4 T>C	15	73007751	73007751	T	C	BBS4	c.332+8T>C	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73007751T>C	(Likely) benign	2 labs	349a3bc67f
7:30634764 GARS1 C>T	7	30634764	30634764	C	T	GARS1	c.222+5C>T	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30634764C>T	(Likely) benign	2 labs	349aaf69c0
3:38739416 SCN10A C>T	3	38739416	38739416	C	T	SCN10A	c.5295G>A	NM_006514.4	NP_006505.4:p.(Ser1765=)	NC_000003.11:g.38739416C>T	(Likely) benign	2 labs	349b2271a4
2:179441640 TTN C>G	2	179441640	179441640	C	G	TTN	c.69412+10G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179441640C>G	(Likely) benign	2 labs	349d8fe133
12:8993993 A2ML1 T>C	12	8993993	8993993	T	C	A2ML1	c.1109T>C	NM_144670.6	NP_653271.3:p.(Phe370Ser)	NC_000012.11:g.8993993T>C	(Likely) benign	2 labs	34a598cd27
3:38740031 SCN10A A>C	3	38740031	38740031	A	C	SCN10A	c.4680T>G	NM_006514.4	NP_006505.4:p.(Leu1560=)	NC_000003.11:g.38740031A>C	(Likely) benign	2 labs	34ab32c96d
9:119460500 TRIM32 T>C	9	119460500	119460500	T	C	TRIM32	c.479T>C	NM_012210.4	NP_036342.2:p.(Met160Thr)	NC_000009.11:g.119460500T>C	(Likely) benign	2 labs	34aeec4948
2:179584753 TTN G>A	2	179584753	179584753	G	A	TTN	c.23616C>T	NM_001267550.2	NP_001254479.2:p.(Asn7872=)	NC_000002.11:g.179584753G>A	(Likely) benign	2 labs	34afefd64f
19:49693461 TRPM4 A>C	19	49693461	49693461	A	C	TRPM4	c.2020-4A>C	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49693461A>C	(Likely) benign	2 labs	34b02566df
7:128486363 FLNC C>T	7	128486363	128486363	C	T	FLNC	c.3973C>T	NM_001458.5	NP_001449.3:p.(Leu1325=)	NC_000007.13:g.128486363C>T	(Likely) benign	2 labs	34ba6b2aef
19:8651438 ADAMTS10 T>C	19	8651438	8651438	T	C	ADAMTS10	c.2403+4A>G	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8651438T>C	(Likely) benign	3 labs	34be21e52b
7:151949678 KMT2C A>G	7	151949678	151949678	A	G	KMT2C	c.1422T>C	NM_170606.3	NP_733751.2:p.(Tyr474=)	NC_000007.13:g.151949678A>G	(Likely) benign	2 labs	34c617bf40
22:50885975 SBF1 G>A	22	50885975	50885975	G	A	SBF1	c.5427C>T	NM_002972.4	NP_002963.2:p.(Phe1809=)	NC_000022.10:g.50885975G>A	(Likely) benign	2 labs	34c623ff01
4:126240510 FAT4 T>C	4	126240510	126240510	T	C	FAT4	c.2944T>C	NM_001291303.3	NP_001278232.1:p.(Leu982=)	NC_000004.11:g.126240510T>C	(Likely) benign	2 labs	34d0db5e4f
19:45867701 ERCC2 G>A	19	45867701	45867701	G	A	ERCC2	c.699C>T	NM_000400.4	NP_000391.1:p.(Phe233=)	NC_000019.9:g.45867701G>A	(Likely) benign	2 labs	34d346e050
X:153594951 FLNA G>A	X	153594951	153594951	G	A	FLNA	c.1044C>T	NM_001110556.2	NP_001104026.1:p.(Pro348=)	NC_000023.10:g.153594951G>A	(Likely) benign	3 labs	34daef5893
8:24814007 NEFL G>A	8	24814007	24814007	G	A	NEFL	c.23C>T	NM_006158.5	NP_006149.2:p.(Pro8Leu)	NC_000008.10:g.24814007G>A	(Likely) pathogenic	2 labs	34db7d99ed
13:111121620 COL4A2 C>T	13	111121620	111121620	C	T	COL4A2	c.2152C>T	NM_001846.4	NP_001837.2:p.(Pro718Ser)	NC_000013.10:g.111121620C>T	(Likely) benign	2 labs	34de99bf79
9:133759576 ABL1 C>T	9	133759576	133759576	C	T	ABL1	c.1899C>T	NM_005157.6	NP_005148.2:p.(Ala633=)	NC_000009.11:g.133759576C>T	(Likely) benign	2 labs	34e2e4f0f6
1:45797255 MUTYH G>A	1	45797255	45797255	G	A	MUTYH	c.1187-27C>T	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45797255G>A	(Likely) benign	2 labs	34e34cbaca
4:55139771 PDGFRA T>C	4	55139771	55139771	T	C	PDGFRA	c.1432T>C	NM_006206.6	NP_006197.1:p.(Ser478Pro)	NC_000004.11:g.55139771T>C	(Likely) benign	3 labs	34e8ce0295
14:23863086 MYH6 C>T	14	23863086	23863086	C	T	MYH6	c.2717G>A	NM_002471.4	NP_002462.2:p.(Arg906His)	NC_000014.8:g.23863086C>T	VUS	2 labs	34eda93d32
16:16281007 ABCC6 A>G	16	16281007	16281007	A	G	ABCC6	c.1841T>C	NM_001171.6	NP_001162.5:p.(Val614Ala)	NC_000016.9:g.16281007A>G	(Likely) benign	2 labs	34ef2658b2
19:49675017 TRPM4 G>T	19	49675017	49675017	G	T	TRPM4	c.1041G>T	NM_017636.4	NP_060106.2:p.(Leu347=)	NC_000019.9:g.49675017G>T	(Likely) benign	3 labs	34efea15bc
16:1569934 IFT140 C>T	16	1569934	1569934	C	T	IFT140	c.3988G>A	NM_014714.4	NP_055529.2:p.(Ala1330Thr)	NC_000016.9:g.1569934C>T	(Likely) benign	3 labs	34f355ca67
1:216243517 USH2A T>C	1	216243517	216243517	T	C	USH2A	c.5975A>G	NM_206933.3	NP_996816.2:p.(Tyr1992Cys)	NC_000001.10:g.216243517T>C	(Likely) benign	3 labs	34f43a14c7
16:2122391 TSC2 TG>T	16	2122391	2122396	TG	T	TSC2	c.2220+32del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2122396del	(Likely) benign	2 labs	34fc9c8a23
5:127622474 FBN2 G>T	5	127622474	127622474	G	T	FBN2	c.6948C>A	NM_001999.4	NP_001990.2:p.(Ile2316=)	NC_000005.9:g.127622474G>T	(Likely) benign	3 labs	34fd541da4
2:73678616 ALMS1 G>T	2	73678616	73678616	G	T	ALMS1	c.4965G>T	NM_015120.4	NP_055935.4:p.(Lys1655Asn)	NC_000002.11:g.73678616G>T	(Likely) benign	2 labs	350012bbf9
2:189870199 COL3A1 T>G	2	189870199	189870199	T	G	COL3A1	c.3039+16T>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189870199T>G	(Likely) benign	2 labs	3505ab2f36
9:135205359 SETX G>A	9	135205359	135205359	G	A	SETX	c.1626C>T	NM_001351527.2	NP_001338456.1:p.(Leu542=)	NC_000009.11:g.135205359G>A	(Likely) benign	2 labs	35078bcdeb
2:179393040 TTN G>A	2	179393040	179393040	G	A	TTN	c.107338C>T	NM_001267550.2	NP_001254479.2:p.(Arg35780Cys)	NC_000002.11:g.179393040G>A	VUS	2 labs	350b7fd546
22:50656647 TUBGCP6 G>A	22	50656647	50656647	G	A	TUBGCP6	c.5139C>T	NM_020461.4	NP_065194.3:p.(His1713=)	NC_000022.10:g.50656647G>A	(Likely) benign	2 labs	350e106e08
15:73615761 HCN4 C>T	15	73615761	73615761	C	T	HCN4	c.2673G>A	NM_005477.3	NP_005468.1:p.(Ser891=)	NC_000015.9:g.73615761C>T	(Likely) benign	2 labs	35150005c5
17:73517536 TSEN54 G>A	17	73517536	73517536	G	A	TSEN54	c.568G>A	NM_207346.3	NP_997229.2:p.(Val190Met)	NC_000017.10:g.73517536G>A	(Likely) benign	3 labs	351affcf8d
2:182521632 CERKL C>A	2	182521632	182521632	C	A	CERKL	c.102G>T	NM_001030311.3	NP_001025482.1:p.(Thr34=)	NC_000002.11:g.182521632C>A	(Likely) benign	2 labs	3523c0689f
17:61995733 GH1 C>G	17	61995733	61995733	C	G	GH1	c.144G>C	NM_000515.5	NP_000506.2:p.(Gln48His)	NC_000017.10:g.61995733C>G	VUS	2 labs	352d200723
2:179545818 TTN G>A	2	179545818	179545818	G	A	TTN	c.33328C>T	NM_001267550.2	NP_001254479.2:p.(Pro11110Ser)	NC_000002.11:g.179545818G>A	VUS	2 labs	352e5b5e3a
5:89989749 ADGRV1 C>T	5	89989749	89989749	C	T	ADGRV1	c.7176C>T	NM_032119.4	NP_115495.3:p.(Ser2392=)	NC_000005.9:g.89989749C>T	(Likely) benign	3 labs	3532c655e2
5:149323933 PDE6A G>T	5	149323933	149323933	G	T	PDE6A	c.304C>A	NM_000440.3	NP_000431.2:p.(Arg102Ser)	NC_000005.9:g.149323933G>T	(Likely) pathogenic	2 labs	3533ef9406
X:53240975 KDM5C G>A	X	53240975	53240975	G	A	KDM5C	c.1236C>T	NM_004187.5	NP_004178.2:p.(Pro412=)	NC_000023.10:g.53240975G>A	(Likely) benign	2 labs	353a7afbca
5:90136482 ADGRV1 G>A	5	90136482	90136482	G	A	ADGRV1	c.16699G>A	NM_032119.4	NP_115495.3:p.(Val5567Ile)	NC_000005.9:g.90136482G>A	(Likely) benign	2 labs	353da1b1db
3:81627173 GBE1 A>G	3	81627173	81627173	A	G	GBE1	c.1521T>C	NM_000158.4	NP_000149.4:p.(Thr507=)	NC_000003.11:g.81627173A>G	(Likely) benign	3 labs	353e256ea6
X:133527688 PHF6 GT>G	X	133527688	133527698	GT	G	PHF6	c.374+34del	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133527698del	(Likely) benign	2 labs	35429f8aa4
7:128495338 FLNC C>T	7	128495338	128495338	C	T	FLNC	c.7221C>T	NM_001458.5	NP_001449.3:p.(Asp2407=)	NC_000007.13:g.128495338C>T	(Likely) benign	2 labs	3555be525c
15:48704910 FBN1 T>G	15	48704910	48704910	T	G	FBN1	c.8082A>C	NM_000138.5	NP_000129.3:p.(Arg2694=)	NC_000015.9:g.48704910T>G	(Likely) benign	3 labs	355bf8a335
15:91292893 BLM G>A	15	91292893	91292893	G	A	BLM	c.395G>A	NM_000057.4	NP_000048.1:p.(Arg132Gln)	NC_000015.9:g.91292893G>A	(Likely) benign	2 labs	357731d74b
1:94528138 ABCA4 G>A	1	94528138	94528138	G	A	ABCA4	c.1932C>T	NM_000350.3	NP_000341.2:p.(Asp644=)	NC_000001.10:g.94528138G>A	(Likely) benign	2 labs	3577abc04c
12:48372481 COL2A1 G>A	12	48372481	48372481	G	A	COL2A1	c.2794C>T	NM_001844.5	NP_001835.3:p.(Arg932Ter)	NC_000012.11:g.48372481G>A	(Likely) pathogenic	2 labs	35831a0d1d
2:220420922 OBSL1 C>T	2	220420922	220420922	C	T	OBSL1	c.4429G>A	NM_015311.3	NP_056126.1:p.(Ala1477Thr)	NC_000002.11:g.220420922C>T	(Likely) benign	3 labs	358e298da2
1:10316297 KIF1B T>A	1	10316297	10316297	T	A	KIF1B	c.107-8T>A	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10316297T>A	(Likely) benign	3 labs	358f457be4
1:11854896 MTHFR G>A	1	11854896	11854896	G	A	MTHFR	c.1056C>T	NM_005957.5	NP_005948.3:p.(Ser352=)	NC_000001.10:g.11854896G>A	(Likely) benign	3 labs	35907bc960
6:16327864 ATXN1 GTGCTGC>G	6	16327864	16327908	GTGCTGC	G	ATXN1	c.672_677del	NM_000332.3	NP_000323.2:p.(Gln224_Gln225del)	NC_000006.11:g.16327903_16327908del	(Likely) benign	3 labs	35978b9899
X:64744027 LAS1L G>C	X	64744027	64744027	G	C	LAS1L	c.1209C>G	NM_001375335.1	NP_001362264.1:p.(Leu403=)	NC_000023.10:g.64744027G>C	(Likely) benign	2 labs	359b73aa0c
5:112676297 MCC C>T	5	112676297	112676297	C	T	MCC	c.546G>A	NM_001085377.2	NP_001078846.2:p.(Gln182=)	NC_000005.9:g.112676297C>T	(Likely) benign	2 labs	35a186fef3
7:103629803 RELN T>TGCCGCC	7	103629803	103629829	T	TGCCGCC	RELN	c.-6_-1dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629824_103629829dup	(Likely) benign	2 labs	35a205e9f6
3:63981668 ATXN7 T>A	3	63981668	63981668	T	A	ATXN7	c.2170T>A	NM_000333.4	NP_000324.1:p.(Ser724Thr)	NC_000003.11:g.63981668T>A	(Likely) benign	2 labs	35aa52a1e6
8:87616370 CNGB3 T>A	8	87616370	87616370	T	A	CNGB3	c.1732A>T	NM_019098.5	NP_061971.3:p.(Thr578Ser)	NC_000008.10:g.87616370T>A	(Likely) benign	2 labs	35abebb27a
1:197411409 CRB1 G>A	1	197411409	197411409	G	A	CRB1	c.3920G>A	NM_001257965.2	NP_001244894.1:p.(Arg1307His)	NC_000001.10:g.197411409G>A	(Likely) benign	3 labs	35aeb1bc23
4:114120284 ANK2 C>T	4	114120284	114120284	C	T	ANK2	c.384+19C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114120284C>T	(Likely) benign	2 labs	35b05a3ada
12:56398531 SUOX G>A	12	56398531	56398531	G	A	SUOX	c.1358G>A	NM_000456.3	NP_000447.2:p.(Gly453Asp)	NC_000012.11:g.56398531G>A	(Likely) benign	2 labs	35bcdf20d8
1:215821030 USH2A G>A	1	215821030	215821030	G	A	USH2A	c.14625C>T	NM_206933.4	NP_996816.3:p.(Ala4875=)	NC_000001.10:g.215821030G>A	(Likely) benign	2 labs	35cbae83ca
16:2124416 TSC2 G>A	16	2124416	2124416	G	A	TSC2	c.2545+26G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2124416G>A	(Likely) benign	2 labs	35de9417bd
1:150531882 ADAMTSL4 C>G	1	150531882	150531882	C	G	ADAMTSL4	c.2883C>G	NM_019032.6	NP_061905.2:p.(Ala961=)	NC_000001.10:g.150531882C>G	(Likely) benign	2 labs	35e034bbc8
3:133670073 SLCO2A1 T>C	3	133670073	133670073	T	C	SLCO2A1	c.840A>G	NM_005630.3	NP_005621.2:p.(Arg280=)	NC_000003.11:g.133670073T>C	(Likely) benign	2 labs	35e1b4cbae
19:16593573 CALR3 G>A	19	16593573	16593573	G	A	CALR3	c.702C>T	NM_145046.5	NP_659483.2:p.(Asp234=)	NC_000019.9:g.16593573G>A	(Likely) benign	2 labs	35ea925df1
1:202571620 SYT2 G>A	1	202571620	202571620	G	A	SYT2	c.519C>T	NM_001136504.1	NP_001129976.1:p.(Gly173=)	NC_000001.10:g.202571620G>A	(Likely) benign	2 labs	35f6e8e8a9
1:45798510 MUTYH T>C	1	45798510	45798510	T	C	MUTYH	c.505-4A>G	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45798510T>C	(Likely) benign	2 labs	360227d5ec
9:88356820 AGTPBP1 A>AGGCGGC	9	88356820	88356835	A	AGGCGGC	AGTPBP1	c.52_57dup	NM_001286715.1	NP_001273644.1:p.(Ala18_Ala19dup)	NC_000009.11:g.88356830_88356835dup	(Likely) benign	3 labs	361306ac36
2:179419416 TTN A>C	2	179419416	179419416	A	C	TTN	c.88658T>G	NM_001267550.2	NP_001254479.2:p.(Leu29553Arg)	NC_000002.11:g.179419416A>C	VUS	2 labs	361afd583f
7:128494627 FLNC C>T	7	128494627	128494627	C	T	FLNC	c.6888C>T	NM_001458.5	NP_001449.3:p.(His2296=)	NC_000007.13:g.128494627C>T	(Likely) benign	3 labs	361ca850c9
7:103629803 RELN T>TGCCGCCGCC	7	103629803	103629829	T	TGCCGCCGCC	RELN	c.-9_-1dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629821_103629829dup	(Likely) benign	2 labs	361ef4e780
6:32023954 TNXB G>A	6	32023954	32023954	G	A	TNXB	c.8144-3C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32023954G>A	(Likely) benign	2 labs	3622d42642
6:112575268 LAMA4 C>G	6	112575268	112575268	C	G	LAMA4	c.85G>C	NM_001105206.3	NP_001098676.2:p.(Asp29His)	NC_000006.11:g.112575268C>G	(Likely) benign	2 labs	362718ddd2
16:15917185 MYH11 C>T	16	15917185	15917185	C	T	MYH11	c.429G>A	NM_001040113.2	NP_001035202.1:p.(Lys143=)	NC_000016.9:g.15917185C>T	(Likely) benign	3 labs	362b8cd823
8:68062019 CSPP1 T>C	8	68062019	68062019	T	C	CSPP1	c.1962T>C	NM_024790.6	NP_079066.5:p.(Thr654=)	NC_000008.10:g.68062019T>C	(Likely) benign	3 labs	362f194c60
17:78184601 SGSH C>T	17	78184601	78184601	C	T	SGSH	c.1159G>A	NM_000199.5	NP_000190.1:p.(Val387Met)	NC_000017.10:g.78184601C>T	(Likely) benign	2 labs	362fa8178e
2:128038065 ERCC3 C>T	2	128038065	128038065	C	T	ERCC3	c.1485G>A	NM_000122.2	NP_000113.1:p.(Glu495=)	NC_000002.11:g.128038065C>T	(Likely) benign	2 labs	363bd91b3b
11:17491730 ABCC8 G>A	11	17491730	17491730	G	A	ABCC8	c.330C>T	NM_001287174.2	NP_001274103.1:p.(Ala110=)	NC_000011.9:g.17491730G>A	(Likely) benign	2 labs	3655dde45b
2:179540737 TTN T>C	2	179540737	179540737	T	C	TTN	c.34379-15A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179540737T>C	(Likely) benign	3 labs	3658c9d6d9
7:91630767 AKAP9 C>T	7	91630767	91630767	C	T	AKAP9	c.1536C>T	NM_005751.5	NP_005742.4:p.(Leu512=)	NC_000007.13:g.91630767C>T	(Likely) benign	3 labs	365d84c3e0
4:126373789 FAT4 G>A	4	126373789	126373789	G	A	FAT4	c.11624G>A	NM_001291303.3	NP_001278232.1:p.(Ser3875Asn)	NC_000004.11:g.126373789G>A	(Likely) benign	3 labs	3660fdb404
16:68835573 CDH1 T>G	16	68835573	68835573	T	G	CDH1	c.164T>G	NM_004360.5	NP_004351.1:p.(Val55Gly)	NC_000016.9:g.68835573T>G	(Likely) benign	2 labs	366dc13e1b
16:15892555 MYH11 AAAG>A	16	15892555	15892563	AAAG	A	MYH11	c.503-14_503-12del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15892561_15892563del	(Likely) benign	2 labs	3672d4dbde
6:100061221 PRDM13 C>T	6	100061221	100061221	C	T	PRDM13	c.710C>T	NM_021620.4	NP_067633.2:p.(Ala237Val)	NC_000006.11:g.100061221C>T	(Likely) benign	2 labs	368fef53ea
2:179419452 TTN A>G	2	179419452	179419452	A	G	TTN	c.88622T>C	NM_001267550.2	NP_001254479.2:p.(Ile29541Thr)	NC_000002.11:g.179419452A>G	VUS	3 labs	36bb9e0a91
1:215901563 USH2A G>A	1	215901563	215901563	G	A	USH2A	c.11875C>T	NM_206933.4	NP_996816.3:p.(Gln3959Ter)	NC_000001.10:g.215901563G>A	(Likely) pathogenic	3 labs	36b0ef07ad
1:237774057 RYR2 G>C	1	237774057	237774057	G	C	RYR2	c.4684-5G>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237774057G>C	(Likely) benign	3 labs	36bbb6001e
1:94564462 ABCA4 C>G	1	94564462	94564462	C	G	ABCA4	c.656G>C	NM_000350.3	NP_000341.2:p.(Arg219Thr)	NC_000001.10:g.94564462C>G	VUS	3 labs	36c71e7d88
2:179583456 TTN G>A	2	179583456	179583456	G	A	TTN	c.24471C>T	NM_001267550.2	NP_001254479.2:p.(Gly8157=)	NC_000002.11:g.179583456G>A	(Likely) benign	4 labs	36d194640c
11:47367923 MYBPC3 T>C	11	47367923	47367923	T	C	MYBPC3	c.927-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367923T>C	(Likely) pathogenic	5 labs	36e32c661f
19:15297974 NOTCH3 G>A	19	15297974	15297974	G	A	NOTCH3	c.1782C>T	NM_000435.3	NP_000426.2:p.(Gly594=)	NC_000019.9:g.15297974G>A	(Likely) benign	2 labs	36dc845e5a
5:149502662 PDGFRB C>T	5	149502662	149502662	C	T	PDGFRB	c.2126G>A	NM_002609.4	NP_002600.1:p.(Arg709His)	NC_000005.9:g.149502662C>T	(Likely) benign	3 labs	36e82e4dab
7:151372719 PRKAG2 G>A	7	151372719	151372719	G	A	PRKAG2	c.471C>T	NM_016203.4	NP_057287.2:p.(Ser157=)	NC_000007.13:g.151372719G>A	(Likely) benign	3 labs	36e520a5db
8:10465434 RP1L1 C>T	8	10465434	10465434	C	T	RP1L1	c.6174G>A	NM_178857.6	NP_849188.4:p.(Pro2058=)	NC_000008.10:g.10465434C>T	(Likely) benign	2 labs	36ee605389
12:48383582 COL2A1 G>A	12	48383582	48383582	G	A	COL2A1	c.1030C>T	NM_001844.5	NP_001835.3:p.(Arg344Ter)	NC_000012.11:g.48383582G>A	(Likely) pathogenic	2 labs	36f00d3967
12:7045891 ATN1 ACAGCAGCAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAGCAGCAG	A	ATN1	c.1494_1508del	NM_001007026.2	NP_001007027.1:p.(Gln498_Gln502del)	NC_000012.11:g.7045924_7045938del	(Likely) benign	2 labs	36f440c549
20:61472073 COL9A3 C>A	20	61472073	61472073	C	A	COL9A3	c.2044C>A	NM_001853.4	NP_001844.3:p.(Arg682=)	NC_000020.10:g.61472073C>A	(Likely) benign	3 labs	36f531fc00
10:100193810 HPS1 C>T	10	100193810	100193810	C	T	HPS1	c.437G>A	NM_001322477.2	NP_001309406.1:p.(Trp146Ter)	NC_000010.10:g.100193810C>T	(Likely) pathogenic	2 labs	36fb47ce62
20:60897707 LAMA5 GC>G	20	60897707	60897710	GC	G	LAMA5	c.6165+6del	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60897710del	(Likely) benign	3 labs	370651bf5f
5:148408101 SH3TC2 A>G	5	148408101	148408101	A	G	SH3TC2	c.1194T>C	NM_024577.4	NP_078853.2:p.(Gly398=)	NC_000005.9:g.148408101A>G	(Likely) benign	3 labs	3709e028f1
9:98270531 PTCH1 C>A	9	98270531	98270531	C	A	PTCH1	c.113G>T	NM_000264.5	NP_000255.2:p.(Gly38Val)	NC_000009.11:g.98270531C>A	(Likely) benign	2 labs	370b7632db
16:88503039 ZNF469 A>C	16	88503039	88503039	A	C	ZNF469	c.9161A>C	NM_001367624.2	NP_001354553.1:p.(Glu3054Ala)	NC_000016.9:g.88503039A>C	(Likely) benign	2 labs	370c647545
12:110238466 TRPV4 C>T	12	110238466	110238466	C	T	TRPV4	c.810G>A	NM_021625.5	NP_067638.3:p.(Gly270=)	NC_000012.11:g.110238466C>T	(Likely) benign	3 labs	370e5c7e2e
2:179410275 TTN C>G	2	179410275	179410275	C	G	TTN	c.95562G>C	NM_001267550.2	NP_001254479.2:p.(Trp31854Cys)	NC_000002.11:g.179410275C>G	VUS	4 labs	370fa8e9d8
2:179427796 TTN C>T	2	179427796	179427796	C	T	TTN	c.83063G>A	NM_001267550.2	NP_001254479.2:p.(Arg27688His)	NC_000002.11:g.179427796C>T	(Likely) benign	3 labs	371dbb1107
17:39911994 JUP G>A	17	39911994	39911994	G	A	JUP	c.*2C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39911994G>A	(Likely) benign	2 labs	371e016739
3:38743570 SCN10A C>T	3	38743570	38743570	C	T	SCN10A	c.4417G>A	NM_006514.4	NP_006505.4:p.(Val1473Met)	NC_000003.11:g.38743570C>T	VUS	2 labs	3725d5c2b3
2:179499886 TTN A>G	2	179499886	179499886	A	G	TTN	c.42024+6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179499886A>G	(Likely) benign	4 labs	37273b256a
4:658734 PDE6B G>A	4	658734	658734	G	A	PDE6B	c.2193+1G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.658734G>A	(Likely) pathogenic	3 labs	37299942f3
10:73553333 CDH23 C>T	10	73553333	73553333	C	T	CDH23	c.6648C>T	NM_022124.6	NP_071407.4:p.(Ala2216=)	NC_000010.10:g.73553333C>T	(Likely) benign	2 labs	37321e9f7a
7:33644596 BBS9 C>A	7	33644596	33644596	C	A	BBS9	c.2632+9C>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33644596C>A	(Likely) benign	3 labs	3736baaf16
11:108196259 ATM C>T	11	108196259	108196259	C	T	ATM	c.6795C>T	NM_000051.4	NP_000042.3:p.(Phe2265=)	NC_000011.9:g.108196259C>T	(Likely) benign	2 labs	373a35ccb4
2:215634012 BARD1 G>C	2	215634012	215634012	G	C	BARD1	c.1339C>G	NM_000465.4	NP_000456.2:p.(Leu447Val)	NC_000002.11:g.215634012G>C	VUS	2 labs	3741356a25
2:74087298 STAMBP A>G	2	74087298	74087298	A	G	STAMBP	c.1218+20A>G	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74087298A>G	(Likely) benign	2 labs	374308f6c7
19:15302326 NOTCH3 G>A	19	15302326	15302326	G	A	NOTCH3	c.945C>T	NM_000435.3	NP_000426.2:p.(Ile315=)	NC_000019.9:g.15302326G>A	(Likely) benign	2 labs	374bacc2c4
X:132092607 HS6ST2 GA>G	X	132092607	132092608	GA	G	HS6ST2	c.23del	NM_001077188.2	NP_001070656.1:p.(Val8AlafsTer27)	NC_000023.10:g.132092608del	(Likely) benign	2 labs	374cdcdf8a
9:139309031 PMPCA C>T	9	139309031	139309031	C	T	PMPCA	c.464C>T	NM_015160.3	NP_055975.1:p.(Ala155Val)	NC_000009.11:g.139309031C>T	(Likely) benign	2 labs	3750afb7e9
12:22001124 ABCC9 A>G	12	22001124	22001124	A	G	ABCC9	c.2826T>C	NM_005691.4	NP_005682.2:p.(Tyr942=)	NC_000012.11:g.22001124A>G	(Likely) benign	2 labs	37531218e3
15:48797337 FBN1 G>A	15	48797337	48797337	G	A	FBN1	c.1845C>T	NM_000138.5	NP_000129.3:p.(Asn615=)	NC_000015.9:g.48797337G>A	(Likely) benign	2 labs	375f820345
4:6293040 WFS1 A>C	4	6293040	6293040	A	C	WFS1	c.577A>C	NM_006005.3	NP_005996.2:p.(Lys193Gln)	NC_000004.11:g.6293040A>C	(Likely) benign	4 labs	376010e8da
12:50501897 GPD1 A>G	12	50501897	50501897	A	G	GPD1	c.937A>G	NM_005276.4	NP_005267.2:p.(Lys313Glu)	NC_000012.11:g.50501897A>G	VUS	2 labs	376170e386
3:123348356 MYLK C>T	3	123348356	123348356	C	T	MYLK	c.5079G>A	NM_053025.4	NP_444253.3:p.(Lys1693=)	NC_000003.11:g.123348356C>T	(Likely) benign	2 labs	376b19f41e
7:128412618 OPN1SW C>A	7	128412618	128412618	C	A	OPN1SW	c.1014G>T	NM_001385125.1	NP_001372054.1:p.(Ser338=)	NC_000007.13:g.128412618C>A	(Likely) benign	2 labs	3771ba7f6a
15:85370811 ALPK3 C>T	15	85370811	85370811	C	T	ALPK3	c.279C>T	NM_020778.5	NP_065829.4:p.(Asp93=)	NC_000015.9:g.85370811C>T	(Likely) benign	2 labs	3776ca7f09
9:139393401 NOTCH1 C>T	9	139393401	139393401	C	T	NOTCH1	c.6130G>A	NM_017617.5	NP_060087.3:p.(Ala2044Thr)	NC_000009.11:g.139393401C>T	VUS	2 labs	377c5e83de
2:179589241 TTN G>A	2	179589241	179589241	G	A	TTN	c.20861C>T	NM_001267550.2	NP_001254479.2:p.(Ala6954Val)	NC_000002.11:g.179589241G>A	(Likely) benign	3 labs	378811ecf0
21:47423509 COL6A1 C>T	21	47423509	47423509	C	T	COL6A1	c.2669C>T	NM_001848.3	NP_001839.2:p.(Ser890Leu)	NC_000021.8:g.47423509C>T	(Likely) benign	2 labs	3793021a8d
17:41242979 BRCA1 ACT>A	17	41242979	41242983	ACT	A	BRCA1	c.4165_4166del	NM_007294.4	NP_009225.1:p.(Ser1389Ter)	NC_000017.10:g.41242982_41242983del	(Likely) pathogenic	3 labs	3788fdf162
10:73544663 CDH23 C>T	10	73544663	73544663	C	T	CDH23	c.5518C>T	NM_022124.6	NP_071407.4:p.(Arg1840Trp)	NC_000010.10:g.73544663C>T	VUS	3 labs	37a619fb82
22:26849247 HPS4 G>A	22	26849247	26849247	G	A	HPS4	c.1837C>T	NM_001349903.2	NP_001336832.1:p.(Arg613Trp)	NC_000022.10:g.26849247G>A	(Likely) benign	2 labs	37b1039f89
17:38802106 SMARCE1 TA>T	17	38802106	38802116	TA	T	SMARCE1	c.-45-8del	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38802116del	(Likely) benign	2 labs	37b2568001
1:156851285 NTRK1 C>T	1	156851285	156851285	C	T	NTRK1	c.2242C>T	NM_002529.4	NP_002520.2:p.(Arg748Trp)	NC_000001.10:g.156851285C>T	VUS	2 labs	37b6fdffaf
2:167089980 SCN9A A>G	2	167089980	167089980	A	G	SCN9A	c.3769-8T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089980A>G	(Likely) benign	3 labs	37d2003bf5
7:91694604 AKAP9 G>A	7	91694604	91694604	G	A	AKAP9	c.6037G>A	NM_005751.5	NP_005742.4:p.(Glu2013Lys)	NC_000007.13:g.91694604G>A	(Likely) benign	3 labs	37d2640b49
8:1817367 ARHGEF10 G>A	8	1817367	1817367	G	A	ARHGEF10	c.630G>A	NM_014629.4	NP_055444.2:p.(Glu210=)	NC_000008.10:g.1817367G>A	(Likely) benign	2 labs	37db5ae28d
7:624221 PRKAR1B T>G	7	624221	624221	T	G	PRKAR1B	c.709-16A>C	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.624221T>G	(Likely) benign	2 labs	37db8be35c
X:41469284 CASK G>A	X	41469284	41469284	G	A	CASK	c.1034-6C>T	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41469284G>A	(Likely) benign	3 labs	37df65b541
5:37182954 CPLANE1 C>T	5	37182954	37182954	C	T	CPLANE1	c.5329G>A	NM_023073.4	NP_075561.3:p.(Val1777Ile)	NC_000005.9:g.37182954C>T	(Likely) benign	3 labs	37e113a3d6
18:77475183 CTDP1 A>G	18	77475183	77475183	A	G	CTDP1	c.1723A>G	NM_048368.4	NP_430255.2:p.(Ser575Gly)	NC_000018.9:g.77475183A>G	VUS	2 labs	37e3b2b3de
2:189861933 COL3A1 C>A	2	189861933	189861933	C	A	COL3A1	c.1804C>A	NM_000090.4	NP_000081.2:p.(Pro602Thr)	NC_000002.11:g.189861933C>A	(Likely) benign	3 labs	37e68220b0
2:29543736 ALK A>G	2	29543736	29543736	A	G	ALK	c.1427T>C	NM_004304.5	NP_004295.2:p.(Val476Ala)	NC_000002.11:g.29543736A>G	(Likely) benign	2 labs	37ed37e40a
2:179583194 TTN T>G	2	179583194	179583194	T	G	TTN	c.23688A>C	NM_001256850.1	NP_001243779.1:p.(Gln7896His)	NC_000002.11:g.179583194T>G	VUS	3 labs	37f5a64e70
8:134030229 TG G>A	8	134030229	134030229	G	A	TG	c.6769G>A	NM_003235.5	NP_003226.4:p.(Ala2257Thr)	NC_000008.10:g.134030229G>A	VUS	2 labs	37f5f60ff6
5:121413462 LOX G>T	5	121413462	121413462	G	T	LOX	c.219C>A	NM_002317.7	NP_002308.2:p.(Gly73=)	NC_000005.9:g.121413462G>T	(Likely) benign	2 labs	37f846ac46
17:48266096 COL1A1 A>G	17	48266096	48266096	A	G	COL1A1	c.3099+7T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266096A>G	(Likely) benign	3 labs	37fcbf6ac6
19:1220597 STK11 G>A	19	1220597	1220597	G	A	STK11	c.615G>A	NM_000455.5	NP_000446.1:p.(Ala205=)	NC_000019.9:g.1220597G>A	(Likely) benign	2 labs	380049495b
5:127744434 FBN2 G>A	5	127744434	127744434	G	A	FBN2	c.1011C>T	NM_001999.4	NP_001990.2:p.(Thr337=)	NC_000005.9:g.127744434G>A	(Likely) benign	3 labs	3808dd059a
2:179419216 TTN G>A	2	179419216	179419216	G	A	TTN	c.88858C>T	NM_001267550.2	NP_001254479.2:p.(Leu29620=)	NC_000002.11:g.179419216G>A	(Likely) benign	5 labs	381e9ce7d3
1:5934588 NPHP4 G>A	1	5934588	5934588	G	A	NPHP4	c.3174C>T	NM_015102.5	NP_055917.1:p.(Thr1058=)	NC_000001.10:g.5934588G>A	(Likely) benign	2 labs	3825e68ea6
9:135202325 SETX A>C	9	135202325	135202325	A	C	SETX	c.4660T>G	NM_015046.7	NP_055861.3:p.(Cys1554Gly)	NC_000009.11:g.135202325A>C	(Likely) benign	4 labs	3828ae688d
2:48033890 MSH6 CT>C	2	48033890	48033908	CT	C	MSH6	c.4002-10del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033908del	(Likely) benign	5 labs	382a38ae37
2:179599098 TTN A>G	2	179599098	179599098	A	G	TTN	c.15453T>C	NM_001267550.2	NP_001254479.2:p.(Asn5151=)	NC_000002.11:g.179599098A>G	(Likely) benign	2 labs	382bceac23
6:112496546 LAMA4 G>A	6	112496546	112496546	G	A	LAMA4	c.1305C>T	NM_002290.5	NP_002281.3:p.(Leu435=)	NC_000006.11:g.112496546G>A	(Likely) benign	2 labs	382beffe87
1:10032249 NMNAT1 A>G	1	10032249	10032249	A	G	NMNAT1	c.115+3A>G	NM_001297778.1	NP_001284707.1:p.?	NC_000001.10:g.10032249A>G	(Likely) benign	3 labs	382e801ac1
17:56283901 MKS1 C>T	17	56283901	56283901	C	T	MKS1	c.1415G>A	NM_017777.4	NP_060247.2:p.(Arg472His)	NC_000017.10:g.56283901C>T	(Likely) benign	2 labs	3833dc5f2c
3:8787262 CAV3 C>T	3	8787262	8787262	C	T	CAV3	c.165C>T	NM_033337.3	NP_203123.1:p.(Asp55=)	NC_000003.11:g.8787262C>T	(Likely) benign	4 labs	38497f8dc6
10:73544689 CDH23 C>T	10	73544689	73544689	C	T	CDH23	c.5544C>T	NM_022124.6	NP_071407.4:p.(Asp1848=)	NC_000010.10:g.73544689C>T	(Likely) benign	2 labs	384a0b6d7a
14:23884431 MYH7 G>A	14	23884431	23884431	G	A	MYH7	c.5332C>T	NM_000257.4	NP_000248.2:p.(His1778Tyr)	NC_000014.8:g.23884431G>A	VUS	2 labs	384befceae
6:135732476 AHI1 AT>A	6	135732476	135732477	AT	A	AHI1	c.2961+9del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135732477del	(Likely) benign	2 labs	3854affeab
4:647765 PDE6B AC>A	4	647765	647766	AC	A	PDE6B	c.837del	NM_000283.4	NP_000274.3:p.(Asp279GlufsTer2)	NC_000004.11:g.647766del	(Likely) pathogenic	3 labs	386a78af29
11:119169085 CBL G>A	11	119169085	119169085	G	A	CBL	c.2269G>A	NM_005188.4	NP_005179.2:p.(Ala757Thr)	NC_000011.9:g.119169085G>A	(Likely) benign	4 labs	386f7d6b8a
7:128486412 FLNC G>A	7	128486412	128486412	G	A	FLNC	c.4022G>A	NM_001458.5	NP_001449.3:p.(Arg1341Gln)	NC_000007.13:g.128486412G>A	(Likely) benign	4 labs	387b30dd5d
2:189923630 COL5A2 A>AT	2	189923630	189923642	A	AT	COL5A2	c.2086-12dup	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189923642dup	(Likely) benign	2 labs	387e62922f
11:2549206 KCNQ1 C>T	11	2549206	2549206	C	T	KCNQ1	c.435C>T	NM_000218.3	NP_000209.2:p.(Ile145=)	NC_000011.9:g.2549206C>T	(Likely) benign	2 labs	387eb52499
6:7559443 DSP G>GC	6	7559443	7559444	G	GC	DSP	c.423-16_423-15insC	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559443_7559444insC	(Likely) benign	4 labs	3885cfe708
1:237794708 RYR2 C>T	1	237794708	237794708	C	T	RYR2	c.6441-19C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237794708C>T	(Likely) benign	5 labs	38861a528c
2:63714613 WDPCP A>T	2	63714613	63714613	A	T	WDPCP	c.176T>A	NM_015910.7	NP_056994.3:p.(Ile59Asn)	NC_000002.11:g.63714613A>T	(Likely) benign	3 labs	3888b476d3
2:179418820 TTN C>T	2	179418820	179418820	C	T	TTN	c.89018G>A	NM_001267550.2	NP_001254479.2:p.(Arg29673Gln)	NC_000002.11:g.179418820C>T	VUS	3 labs	388f7122c3
16:16313545 ABCC6 C>T	16	16313545	16313545	C	T	ABCC6	c.346-6G>A	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16313545C>T	(Likely) benign	3 labs	389a7fd72e
15:48737629 FBN1 A>G	15	48737629	48737629	A	G	FBN1	c.5861T>C	NM_000138.5	NP_000129.3:p.(Phe1954Ser)	NC_000015.9:g.48737629A>G	VUS	2 labs	389b330598
11:76831893 CAPN5 C>T	11	76831893	76831893	C	T	CAPN5	c.1425C>T	NM_004055.5	NP_004046.2:p.(Phe475=)	NC_000011.9:g.76831893C>T	(Likely) benign	2 labs	38a62f05b1
6:42689937 PRPH2 G>A	6	42689937	42689937	G	A	PRPH2	c.136C>T	NM_000322.5	NP_000313.2:p.(Arg46Ter)	NC_000006.11:g.42689937G>A	(Likely) pathogenic	2 labs	38b54f059e
16:15814100 MYH11 T>G	16	15814100	15814100	T	G	MYH11	c.4882A>C	NM_001040113.2	NP_001035202.1:p.(Lys1628Gln)	NC_000016.9:g.15814100T>G	VUS	3 labs	38c5782124
3:53756425 CACNA1D C>T	3	53756425	53756425	C	T	CACNA1D	c.1650C>T	NM_000720.4	NP_000711.1:p.(Ile550=)	NC_000003.11:g.53756425C>T	(Likely) benign	2 labs	38d1315fe3
4:128863180 MFSD8 G>A	4	128863180	128863180	G	A	MFSD8	c.553+20C>T	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128863180G>A	(Likely) benign	2 labs	38d14df6cc
20:60912761 LAMA5 G>C	20	60912761	60912761	G	C	LAMA5	c.2049C>G	NM_005560.6	NP_005551.3:p.(Gly683=)	NC_000020.10:g.60912761G>C	(Likely) benign	2 labs	38d6bc3622
15:85384032 ALPK3 T>G	15	85384032	85384032	T	G	ALPK3	c.1522T>G	NM_020778.5	NP_065829.4:p.(Cys508Gly)	NC_000015.9:g.85384032T>G	(Likely) benign	3 labs	38d90d5f71
11:68177483 LRP5 C>T	11	68177483	68177483	C	T	LRP5	c.2193C>T	NM_002335.4	NP_002326.2:p.(Asn731=)	NC_000011.9:g.68177483C>T	(Likely) benign	2 labs	38e219369b
17:1561844 PRPF8 G>A	17	1561844	1561844	G	A	PRPF8	c.5352C>T	NM_006445.4	NP_006436.3:p.(Asn1784=)	NC_000017.10:g.1561844G>A	(Likely) benign	2 labs	38eb0832a6
12:52309902 ACVRL1 A>G	12	52309902	52309902	A	G	ACVRL1	c.1131A>G	NM_000020.3	NP_000011.2:p.(Ala377=)	NC_000012.11:g.52309902A>G	(Likely) benign	2 labs	38f7b9fe27
5:127624232 FBN2 T>C	5	127624232	127624232	T	C	FBN2	c.6655A>G	NM_001999.4	NP_001990.2:p.(Ile2219Val)	NC_000005.9:g.127624232T>C	(Likely) benign	3 labs	3919a40dc5
7:103197446 RELN T>C	7	103197446	103197446	T	C	RELN	c.5775A>G	NM_005045.4	NP_005036.2:p.(Arg1925=)	NC_000007.13:g.103197446T>C	(Likely) benign	2 labs	391cc97624
15:89868732 POLG T>G	15	89868732	89868732	T	G	POLG	c.1898A>C	NM_002693.3	NP_002684.1:p.(Lys633Thr)	NC_000015.9:g.89868732T>G	(Likely) benign	2 labs	3922bf1615
20:57478771 GNAS G>A	20	57478771	57478771	G	A	GNAS	c.2286G>A	NM_080425.4	NP_536350.2:p.(Leu762=)	NC_000020.10:g.57478771G>A	(Likely) benign	2 labs	3925307d50
11:119149026 CBL A>AC	11	119149026	119149027	A	AC	CBL	c.1227+20dup	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119149027dup	(Likely) benign	2 labs	39267dceaa
5:127670412 FBN2 T>G	5	127670412	127670412	T	G	FBN2	c.4098A>C	NM_001999.4	NP_001990.2:p.(Thr1366=)	NC_000005.9:g.127670412T>G	(Likely) benign	2 labs	3939d2b340
13:100635007 ZIC2 CCCA>C	13	100635007	100635036	CCCA	C	ZIC2	c.716_718del	NM_007129.5	NP_009060.2:p.(His239del)	NC_000013.10:g.100635034_100635036del	(Likely) benign	2 labs	394d5daa7f
20:45362376 SLC2A10 C>T	20	45362376	45362376	C	T	SLC2A10	c.1548-19C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45362376C>T	(Likely) benign	2 labs	39495cd7d1
7:33573737 BBS9 C>T	7	33573737	33573737	C	T	BBS9	c.2470C>T	NM_198428.3	NP_940820.1:p.(Arg824Cys)	NC_000007.13:g.33573737C>T	(Likely) benign	2 labs	3953323391
12:76741570 BBS10 G>A	12	76741570	76741570	G	A	BBS10	c.198-3C>T	NM_024685.4	NP_078961.3:p.?	NC_000012.11:g.76741570G>A	(Likely) benign	2 labs	39535b0804
1:159897681 IGSF9 TA>T	1	159897681	159897696	TA	T	IGSF9	c.3231-5del	NM_001135050.2	NP_001128522.1:p.?	NC_000001.10:g.159897696del	(Likely) benign	3 labs	395b0b46aa
2:44099233 ABCG8 G>A	2	44099233	44099233	G	A	ABCG8	c.1083G>A	NM_022437.3	NP_071882.1:p.(Trp361Ter)	NC_000002.11:g.44099233G>A	(Likely) pathogenic	2 labs	3960f6e70b
12:9007412 A2ML1 T>C	12	9007412	9007412	T	C	A2ML1	c.2749T>C	NM_144670.6	NP_653271.3:p.(Leu917=)	NC_000012.11:g.9007412T>C	(Likely) benign	2 labs	3963914515
9:135204010 SETX T>C	9	135204010	135204010	T	C	SETX	c.2975A>G	NM_015046.7	NP_055861.3:p.(Lys992Arg)	NC_000009.11:g.135204010T>C	(Likely) benign	3 labs	39689acb0e
2:179431525 TTN C>T	2	179431525	179431525	C	T	TTN	c.79334G>A	NM_001267550.2	NP_001254479.2:p.(Arg26445His)	NC_000002.11:g.179431525C>T	VUS	3 labs	3973b41b8d
16:68845646 CDH1 G>A	16	68845646	68845646	G	A	CDH1	c.892G>A	NM_004360.5	NP_004351.1:p.(Ala298Thr)	NC_000016.9:g.68845646G>A	(Likely) benign	3 labs	3976856a98
2:233671277 GIGYF2 G>T	2	233671277	233671277	G	T	GIGYF2	c.1716G>T	NM_001103146.3	NP_001096616.1:p.(Ala572=)	NC_000002.11:g.233671277G>T	(Likely) benign	2 labs	39905e96e7
4:126412575 FAT4 A>G	4	126412575	126412575	A	G	FAT4	c.14604A>G	NM_001291303.3	NP_001278232.1:p.(Arg4868=)	NC_000004.11:g.126412575A>G	(Likely) benign	3 labs	39907087bb
16:15851840 MYH11 C>T	16	15851840	15851840	C	T	MYH11	c.1440G>A	NM_001040113.2	NP_001035202.1:p.(Gln480=)	NC_000016.9:g.15851840C>T	(Likely) benign	3 labs	399414aa77
11:88961066 TYR A>C	11	88961066	88961066	A	C	TYR	c.1112A>C	NM_000372.5	NP_000363.1:p.(Asn371Thr)	NC_000011.9:g.88961066A>C	(Likely) pathogenic	2 labs	399522f5d5
17:10550749 MYH3 T>C	17	10550749	10550749	T	C	MYH3	c.736-6A>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10550749T>C	(Likely) benign	2 labs	3996ee827a
18:29101128 DSG2 G>A	18	29101128	29101128	G	A	DSG2	c.445G>A	NM_001943.5	NP_001934.2:p.(Val149Ile)	NC_000018.9:g.29101128G>A	VUS	3 labs	3997871182
13:32911030 BRCA2 A>C	13	32911030	32911030	A	C	BRCA2	c.2538A>C	NM_000059.4	NP_000050.3:p.(Ser846=)	NC_000013.10:g.32911030A>C	(Likely) benign	6 labs	399af02329
2:166789500 TTC21B C>A	2	166789500	166789500	C	A	TTC21B	c.778G>T	NM_024753.5	NP_079029.3:p.(Glu260Ter)	NC_000002.11:g.166789500C>A	(Likely) pathogenic	2 labs	39a8b1ce28
2:241715348 KIF1A G>T	2	241715348	241715348	G	T	KIF1A	c.883-5C>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241715348G>T	(Likely) benign	2 labs	39b35d64df
1:94517266 ABCA4 G>C	1	94517266	94517266	G	C	ABCA4	c.2588-12C>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94517266G>C	(Likely) benign	2 labs	39bb6c95ea
2:179472208 TTN C>T	2	179472208	179472208	C	T	TTN	c.53207G>A	NM_001267550.2	NP_001254479.2:p.(Arg17736Gln)	NC_000002.11:g.179472208C>T	VUS	2 labs	39bfca0c0e
16:88789488 PIEZO1 C>CCCGGG	16	88789488	88789495	C	CCCGGG	PIEZO1	c.4495+10_4495+14dup	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88789491_88789495dup	(Likely) benign	2 labs	39cd60c858
2:179406087 TTN G>A	2	179406087	179406087	G	A	TTN	c.97717C>T	NM_001267550.2	NP_001254479.2:p.(Arg32573Cys)	NC_000002.11:g.179406087G>A	VUS	2 labs	39d437e83d
3:12626609 RAF1 GCA>G	3	12626609	12626613	GCA	G	RAF1	c.1668+10_1668+11del	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12626612_12626613del	(Likely) benign	2 labs	39d212a797
14:102469273 DYNC1H1 T>C	14	102469273	102469273	T	C	DYNC1H1	c.4854T>C	NM_001376.5	NP_001367.2:p.(Tyr1618=)	NC_000014.8:g.102469273T>C	(Likely) benign	2 labs	39d816b2b0
7:82453708 PCLO A>C	7	82453708	82453708	A	C	PCLO	c.14440T>G	NM_033026.6	NP_149015.2:p.(Ser4814Ala)	NC_000007.13:g.82453708A>C	(Likely) benign	2 labs	39e67c5e7b
17:10542919 MYH3 G>T	17	10542919	10542919	G	T	MYH3	c.2883C>A	NM_002470.4	NP_002461.2:p.(Thr961=)	NC_000017.10:g.10542919G>T	(Likely) benign	2 labs	39e6d92757
18:28669394 DSC2 G>A	18	28669394	28669394	G	A	DSC2	c.630+8C>T	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28669394G>A	(Likely) benign	2 labs	39f8178a4c
5:52376433 ITGA2 T>G	5	52376433	52376433	T	G	ITGA2	c.3021T>G	NM_002203.4	NP_002194.2:p.(Thr1007=)	NC_000005.9:g.52376433T>G	(Likely) benign	2 labs	39f97ff410
6:129419332 LAMA2 G>A	6	129419332	129419332	G	A	LAMA2	c.411G>A	NM_000426.4	NP_000417.3:p.(Ala137=)	NC_000006.11:g.129419332G>A	(Likely) benign	3 labs	39fce42533
1:45974808 MMACHC C>T	1	45974808	45974808	C	T	MMACHC	c.770C>T	NM_015506.3	NP_056321.2:p.(Pro257Leu)	NC_000001.10:g.45974808C>T	VUS	2 labs	39fea2e57c
11:47361280 MYBPC3 A>T	11	47361280	47361280	A	T	MYBPC3	c.1989T>A	NM_000256.3	NP_000247.2:p.(Ala663=)	NC_000011.9:g.47361280A>T	(Likely) benign	3 labs	3a07b0c670
2:189932953 COL5A2 G>A	2	189932953	189932953	G	A	COL5A2	c.1301C>T	NM_000393.5	NP_000384.2:p.(Thr434Met)	NC_000002.11:g.189932953G>A	(Likely) benign	4 labs	3a0982ef31
2:179474667 TTN C>T	2	179474667	179474667	C	T	TTN	c.51483G>A	NM_001267550.2	NP_001254479.2:p.(Ala17161=)	NC_000002.11:g.179474667C>T	(Likely) benign	3 labs	3a2ccf829e
16:81927314 PLCG2 G>A	16	81927314	81927314	G	A	PLCG2	c.987G>A	NM_002661.5	NP_002652.2:p.(Thr329=)	NC_000016.9:g.81927314G>A	(Likely) benign	4 labs	3a2d36220d
10:68040325 CTNNA3 C>T	10	68040325	68040325	C	T	CTNNA3	c.1787G>A	NM_013266.4	NP_037398.2:p.(Ser596Asn)	NC_000010.10:g.68040325C>T	(Likely) benign	3 labs	3a2d389062
9:35706007 TLN1 A>G	9	35706007	35706007	A	G	TLN1	c.5463T>C	NM_006289.4	NP_006280.3:p.(Ala1821=)	NC_000009.11:g.35706007A>G	(Likely) benign	3 labs	3a3237b2fa
16:70897087 HYDIN T>C	16	70897087	70897087	T	C	HYDIN	c.11472-2A>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70897087T>C	VUS	2 labs	3a32680162
6:112508745 LAMA4 G>A	6	112508745	112508745	G	A	LAMA4	c.852C>T	NM_002290.5	NP_002281.3:p.(Ile284=)	NC_000006.11:g.112508745G>A	(Likely) benign	2 labs	3a63bee161
22:21340198 LZTR1 C>T	22	21340198	21340198	C	T	LZTR1	c.320+12C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21340198C>T	(Likely) benign	2 labs	3a66f9b53e
22:40042617 CACNA1I C>T	22	40042617	40042617	C	T	CACNA1I	c.1193C>T	NM_021096.4	NP_066919.2:p.(Ala398Val)	NC_000022.10:g.40042617C>T	VUS	2 labs	3a71145c56
2:48030541 MSH6 T>A	2	48030541	48030541	T	A	MSH6	c.3173-18T>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030541T>A	(Likely) benign	2 labs	3a74f59c32
11:47355529 MYBPC3 G>A	11	47355529	47355529	G	A	MYBPC3	c.2938C>T	NM_000256.3	NP_000247.2:p.(Arg980Cys)	NC_000011.9:g.47355529G>A	VUS	2 labs	3a7789645f
7:103292112 RELN T>G	7	103292112	103292112	T	G	RELN	c.1888A>C	NM_005045.4	NP_005036.2:p.(Ser630Arg)	NC_000007.13:g.103292112T>G	(Likely) benign	3 labs	3a82f719a8
2:179479607 TTN G>A	2	179479607	179479607	G	A	TTN	c.48727C>T	NM_001267550.2	NP_001254479.2:p.(Pro16243Ser)	NC_000002.11:g.179479607G>A	(Likely) benign	5 labs	3a9a4aa5c0
1:201337321 TNNT2 T>C	1	201337321	201337321	T	C	TNNT2	c.102A>G	NM_001276347.2	NP_001263276.1:p.(Ala34=)	NC_000001.10:g.201337321T>C	(Likely) benign	2 labs	3aa9ceedeb
9:137650127 COL5A1 C>T	9	137650127	137650127	C	T	COL5A1	c.1920C>T	NM_000093.5	NP_000084.3:p.(Gly640=)	NC_000009.11:g.137650127C>T	VUS	2 labs	3aaa1fcada
2:241685199 KIF1A C>T	2	241685199	241685199	C	T	KIF1A	c.3330G>A	NM_001244008.2	NP_001230937.1:p.(Ala1110=)	NC_000002.11:g.241685199C>T	(Likely) benign	3 labs	3aac362872
2:219646909 CYP27A1 G>GC	2	219646909	219646910	G	GC	CYP27A1	c.5dup	NM_000784.4	NP_000775.1:p.(Ala3CysfsTer178)	NC_000002.11:g.219646910dup	(Likely) pathogenic	2 labs	3aac5f9ffd
2:179579857 TTN C>T	2	179579857	179579857	C	T	TTN	c.22324G>A	NM_133378.4	NP_596869.4:p.(Gly7442Ser)	NC_000002.11:g.179579857C>T	VUS	2 labs	3aadde4c5a
10:75871781 VCL CTGT>C	10	75871781	75871785	CTGT	C	VCL	c.2862_2864del	NM_014000.3	NP_054706.1:p.(Leu955del)	NC_000010.10:g.75871783_75871785del	(Likely) benign	3 labs	3aae0fdddf
9:136221525 SURF1 A>AT	9	136221525	136221526	A	AT	SURF1	c.311_312insA	NM_003172.4	NP_003163.1:p.(Leu105SerfsTer14)	NC_000009.11:g.136221525_136221526insT	(Likely) pathogenic	4 labs	3ab128af9b
14:57268903 OTX2 C>G	14	57268903	57268903	C	G	OTX2	c.420G>C	NM_001270524.2	NP_001257453.1:p.(Pro140=)	NC_000014.8:g.57268903C>G	(Likely) benign	2 labs	3ac9ec86bd
X:51149956 EZHIP T>A	X	51149956	51149956	T	A	EZHIP	c.88T>A	NM_203407.3	NP_981952.1:p.(Ser30Thr)	NC_000023.10:g.51149956T>A	(Likely) benign	2 labs	3acc56013e
15:23892633 MAGEL2 C>G	15	23892633	23892633	C	G	MAGEL2	c.257G>C	NM_019066.5	NP_061939.3:p.(Gly86Ala)	NC_000015.9:g.23892633C>G	VUS	2 labs	3acea9d52b
2:234240356 SAG G>T	2	234240356	234240356	G	T	SAG	c.804G>T	NM_000541.5	NP_000532.2:p.(Ala268=)	NC_000002.11:g.234240356G>T	(Likely) benign	2 labs	3ad932031b
1:40776916 COL9A2 G>T	1	40776916	40776916	G	T	COL9A2	c.562C>A	NM_001852.4	NP_001843.1:p.(Leu188Met)	NC_000001.10:g.40776916G>T	(Likely) benign	2 labs	3adb991918
3:53781440 CACNA1D G>A	3	53781440	53781440	G	A	CACNA1D	c.3279G>A	NM_001128840.3	NP_001122312.1:p.(Ala1093=)	NC_000003.11:g.53781440G>A	(Likely) benign	3 labs	3ae03a8a08
20:10628720 JAG1 G>A	20	10628720	10628720	G	A	JAG1	c.1608C>T	NM_000214.3	NP_000205.1:p.(Asn536=)	NC_000020.10:g.10628720G>A	(Likely) benign	3 labs	3ae657dea1
2:179528378 TTN C>T	2	179528378	179528378	C	T	TTN	c.36508G>A	NM_001267550.2	NP_001254479.2:p.(Glu12170Lys)	NC_000002.11:g.179528378C>T	(Likely) benign	2 labs	3aed1fa088
10:100183505 HPS1 C>T	10	100183505	100183505	C	T	HPS1	c.1532+5G>A	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100183505C>T	(Likely) benign	2 labs	3aedc6ab88
2:179433110 TTN A>G	2	179433110	179433110	A	G	TTN	c.70045T>C	NM_133378.4	NP_596869.4:p.(Tyr23349His)	NC_000002.11:g.179433110A>G	VUS	3 labs	3afa2fee17
9:80343587 GNAQ GA>G	9	80343587	80343601	GA	G	GNAQ	c.736-5del	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80343601del	(Likely) benign	2 labs	3afda82022
9:133760380 ABL1 C>G	9	133760380	133760380	C	G	ABL1	c.2703C>G	NM_005157.6	NP_005148.2:p.(Pro901=)	NC_000009.11:g.133760380C>G	(Likely) benign	2 labs	3b080eaf53
2:179440955 TTN C>T	2	179440955	179440955	C	T	TTN	c.69904G>A	NM_001267550.2	NP_001254479.2:p.(Val23302Ile)	NC_000002.11:g.179440955C>T	(Likely) benign	2 labs	3b122d7ae4
19:10939792 DNM2 T>C	19	10939792	10939792	T	C	DNM2	c.2139T>C	NM_001005360.3	NP_001005360.1:p.(Ala713=)	NC_000019.9:g.10939792T>C	(Likely) benign	2 labs	3b14d981a6
1:240371484 FMN2 A>T	1	240371484	240371484	A	T	FMN2	c.3384A>T	NM_001305424.2	NP_001292353.1:p.(Leu1128=)	NC_000001.10:g.240371484A>T	(Likely) benign	2 labs	3b26676f72
4:126372555 FAT4 A>G	4	126372555	126372555	A	G	FAT4	c.10390A>G	NM_001291303.3	NP_001278232.1:p.(Ile3464Val)	NC_000004.11:g.126372555A>G	(Likely) benign	2 labs	3b282e3fc9
12:6559330 CD27 T>C	12	6559330	6559330	T	C	CD27	c.269-9T>C	NM_001242.5	NP_001233.2:p.?	NC_000012.11:g.6559330T>C	(Likely) benign	2 labs	3b2d34e75a
14:21795769 RPGRIP1 G>T	14	21795769	21795769	G	T	RPGRIP1	c.2711-13G>T	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21795769G>T	(Likely) benign	2 labs	3b3bff9d1b
11:119142514 CBL T>C	11	119142514	119142514	T	C	CBL	c.513T>C	NM_005188.4	NP_005179.2:p.(Ser171=)	NC_000011.9:g.119142514T>C	(Likely) benign	3 labs	3b4420e4ba
2:21230263 APOB C>T	2	21230263	21230263	C	T	APOB	c.9477G>A	NM_000384.3	NP_000375.3:p.(Lys3159=)	NC_000002.11:g.21230263C>T	(Likely) benign	2 labs	3b5213296f
6:7580323 DSP G>A	6	7580323	7580323	G	A	DSP	c.3900G>A	NM_004415.4	NP_004406.2:p.(Gln1300=)	NC_000006.11:g.7580323G>A	(Likely) benign	2 labs	3b5b87c741
9:130258380 LRSAM1 C>T	9	130258380	130258380	C	T	LRSAM1	c.1830+6C>T	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130258380C>T	(Likely) benign	2 labs	3b653a6035
15:23890996 MAGEL2 C>T	15	23890996	23890996	C	T	MAGEL2	c.1894G>A	NM_019066.5	NP_061939.3:p.(Ala632Thr)	NC_000015.9:g.23890996C>T	(Likely) benign	3 labs	3b6802fe38
17:17119761 FLCN C>T	17	17119761	17119761	C	T	FLCN	c.1233G>A	NM_144997.7	NP_659434.2:p.(Glu411=)	NC_000017.10:g.17119761C>T	(Likely) benign	3 labs	3b6df97f70
X:100655636 GLA C>T	X	100655636	100655636	C	T	GLA	c.639+18G>A	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100655636C>T	(Likely) benign	2 labs	3b71716b12
17:48263208 COL1A1 G>A	17	48263208	48263208	G	A	COL1A1	c.4179C>T	NM_000088.4	NP_000079.2:p.(Ser1393=)	NC_000017.10:g.48263208G>A	(Likely) benign	3 labs	3b79d1c846
6:42689615 PRPH2 T>C	6	42689615	42689615	T	C	PRPH2	c.458A>G	NM_000322.5	NP_000313.2:p.(Lys153Arg)	NC_000006.11:g.42689615T>C	(Likely) pathogenic	2 labs	3b7cb7ee9a
10:71152072 HK1 C>T	10	71152072	71152072	C	T	HK1	c.2183+8C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71152072C>T	(Likely) benign	2 labs	3b7ef9ac11
1:3102700 PRDM16 G>A	1	3102700	3102700	G	A	PRDM16	c.49G>A	NM_022114.4	NP_071397.3:p.(Val17Ile)	NC_000001.10:g.3102700G>A	(Likely) benign	3 labs	3b8a78b419
2:179464527 TTN T>C	2	179464527	179464527	T	C	TTN	c.56101A>G	NM_001267550.2	NP_001254479.2:p.(Asn18701Asp)	NC_000002.11:g.179464527T>C	(Likely) benign	2 labs	3b968fc878
12:110574598 IFT81 A>C	12	110574598	110574598	A	C	IFT81	c.714A>C	NM_014055.4	NP_054774.2:p.(Gln238His)	NC_000012.11:g.110574598A>C	(Likely) benign	2 labs	3ba399c0db
6:135811799 AHI1 G>GT	6	135811799	135811805	G	GT	AHI1	c.96dup	NM_017651.5	NP_060121.3:p.(Leu33ThrfsTer9)	NC_000006.11:g.135811805dup	(Likely) pathogenic	2 labs	3ba8139a61
14:23885391 MYH7 C>T	14	23885391	23885391	C	T	MYH7	c.4775G>A	NM_000257.4	NP_000248.2:p.(Arg1592Gln)	NC_000014.8:g.23885391C>T	VUS	2 labs	3bbc63e4d3
11:22242729 ANO5 T>C	11	22242729	22242729	T	C	ANO5	c.267T>C	NM_213599.3	NP_998764.1:p.(Asp89=)	NC_000011.9:g.22242729T>C	(Likely) benign	4 labs	3bc2042f95
10:75871722 VCL C>T	10	75871722	75871722	C	T	VCL	c.2801C>T	NM_014000.3	NP_054706.1:p.(Ala934Val)	NC_000010.10:g.75871722C>T	(Likely) benign	4 labs	3bc93222bb
1:66067326 LEPR C>T	1	66067326	66067326	C	T	LEPR	c.1246C>T	NM_001003679.3	NP_001003679.1:p.(His416Tyr)	NC_000001.10:g.66067326C>T	(Likely) benign	3 labs	3bca3c2984
17:26875710 UNC119 G>A	17	26875710	26875710	G	A	UNC119	c.234C>T	NM_054035.2	NP_473376.1:p.(Ser78=)	NC_000017.10:g.26875710G>A	(Likely) benign	2 labs	3bcc40bb34
2:179605163 TTN C>A	2	179605163	179605163	C	A	TTN	c.12797G>T	NM_001267550.2	NP_001254479.2:p.(Ser4266Ile)	NC_000002.11:g.179605163C>A	VUS	2 labs	3bc2ffe02f
7:66459197 SBDS A>G	7	66459197	66459197	A	G	SBDS	c.258+2T>C	NM_016038.4	NP_057122.2:p.?	NC_000007.13:g.66459197A>G	(Likely) pathogenic	6 labs	3bcf69c92f
7:128477620 FLNC G>A	7	128477620	128477620	G	A	FLNC	c.850+18G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477620G>A	(Likely) benign	2 labs	3be85f52e3
1:243329211 CEP170 G>T	1	243329211	243329211	G	T	CEP170	c.2051C>A	NM_014812.3	NP_055627.2:p.(Thr684Lys)	NC_000001.10:g.243329211G>T	(Likely) benign	2 labs	3beaec7c03
3:63898547 ATXN7 G>C	3	63898547	63898547	G	C	ATXN7	c.273G>C	NM_000333.4	NP_000324.1:p.(Leu91=)	NC_000003.11:g.63898547G>C	(Likely) benign	2 labs	3bededbf20
5:149514363 PDGFRB A>G	5	149514363	149514363	A	G	PDGFRB	c.581T>C	NM_002609.4	NP_002600.1:p.(Ile194Thr)	NC_000005.9:g.149514363A>G	(Likely) benign	3 labs	3beff03364
2:47672679 MSH2 T>C	2	47672679	47672679	T	C	MSH2	c.1277-8T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47672679T>C	(Likely) benign	2 labs	3bf45ef29d
2:73829500 ALMS1 G>A	2	73829500	73829500	G	A	ALMS1	c.12301+5G>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73829500G>A	(Likely) benign	3 labs	3bf83d8205
4:88536898 DSPP CAACAGCAGT>C	4	88536898	88536907	CAACAGCAGT	C	DSPP	c.3085_3093del	NM_014208.3	NP_055023.2:p.(Asn1029_Ser1031del)	NC_000004.11:g.88536899_88536907del	(Likely) benign	3 labs	3c0023567b
3:132411531 NPHP3 A>G	3	132411531	132411531	A	G	NPHP3	c.2442T>C	NM_153240.5	NP_694972.3:p.(Tyr814=)	NC_000003.11:g.132411531A>G	(Likely) benign	3 labs	3c00a5e2f1
10:75843119 VCL T>C	10	75843119	75843119	T	C	VCL	c.875-5T>C	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75843119T>C	(Likely) benign	2 labs	3c023bcec4
12:57906653 MARS1 C>T	12	57906653	57906653	C	T	MARS1	c.1873C>T	NM_004990.4	NP_004981.2:p.(Arg625Trp)	NC_000012.11:g.57906653C>T	VUS	3 labs	3c04692313
5:127644920 FBN2 G>A	5	127644920	127644920	G	A	FBN2	c.5353+19C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644920G>A	(Likely) benign	2 labs	3c172cd784
17:41243920 BRCA1 C>CT	17	41243920	41243921	C	CT	BRCA1	c.3627dup	NM_007294.4	NP_009225.1:p.(Glu1210ArgfsTer9)	NC_000017.10:g.41243921dup	(Likely) pathogenic	2 labs	3c1ec60ec1
16:15820747 MYH11 C>T	16	15820747	15820747	C	T	MYH11	c.3816G>A	NM_002474.3	NP_002465.1:p.(Glu1272=)	NC_000016.9:g.15820747C>T	(Likely) benign	3 labs	3c26445839
2:239237846 TRAF3IP1 G>A	2	239237846	239237846	G	A	TRAF3IP1	c.778G>A	NM_015650.4	NP_056465.2:p.(Glu260Lys)	NC_000002.11:g.239237846G>A	(Likely) benign	2 labs	3c295e1d93
10:71139870 HK1 A>G	10	71139870	71139870	A	G	HK1	c.1229+19A>G	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71139870A>G	(Likely) benign	2 labs	3c46632eec
2:21229000 APOB G>A	2	21229000	21229000	G	A	APOB	c.10740C>T	NM_000384.3	NP_000375.3:p.(Asn3580=)	NC_000002.11:g.21229000G>A	(Likely) benign	2 labs	3c4b1351ed
14:23871909 MYH6 G>A	14	23871909	23871909	G	A	MYH6	c.999C>T	NM_002471.4	NP_002462.2:p.(Thr333=)	NC_000014.8:g.23871909G>A	(Likely) benign	5 labs	3c4f2a944e
2:179397081 TTN G>A	2	179397081	179397081	G	A	TTN	c.104261C>T	NM_001267550.2	NP_001254479.2:p.(Ala34754Val)	NC_000002.11:g.179397081G>A	VUS	2 labs	3c5858de73
7:150652568 KCNH2 C>T	7	150652568	150652568	C	T	KCNH2	c.24G>A	NM_172057.3	NP_742054.1:p.(Ala8=)	NC_000007.13:g.150652568C>T	(Likely) benign	2 labs	3c58853b51
2:179654828 TTN A>G	2	179654828	179654828	A	G	TTN	c.1815T>C	NM_001267550.2	NP_001254479.2:p.(Thr605=)	NC_000002.11:g.179654828A>G	(Likely) benign	2 labs	3c5d5b618a
11:68179030 LRP5 C>T	11	68179030	68179030	C	T	LRP5	c.702C>T	NM_001291902.2	NP_001278831.1:p.(Asp234=)	NC_000011.9:g.68179030C>T	(Likely) benign	2 labs	3c6343451c
1:168262522 TBX19 A>AGT	1	168262522	168262564	A	AGT	TBX19	c.603+47_603+48dup	NM_005149.3	NP_005140.1:p.?	NC_000001.10:g.168262563_168262564dup	(Likely) benign	2 labs	3c79176f87
11:44129781 EXT2 G>C	11	44129781	44129781	G	C	EXT2	c.618G>C	NM_000401.3	NP_000392.3:p.(Ala206=)	NC_000011.9:g.44129781G>C	(Likely) benign	2 labs	3c83c90bd6
15:85411692 ALPK3 C>T	15	85411692	85411692	C	T	ALPK3	c.*5C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85411692C>T	(Likely) benign	2 labs	3c8966190f
5:95728974 PCSK1 G>C	5	95728974	95728974	G	C	PCSK1	c.1993C>G	NM_000439.5	NP_000430.3:p.(Gln665Glu)	NC_000005.9:g.95728974G>C	(Likely) benign	2 labs	3c99480ded
17:10533595 MYH3 C>CT	17	10533595	10533596	C	CT	MYH3	c.5457+9dup	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10533596dup	(Likely) benign	2 labs	3ca05c7592
2:179438878 TTN G>A	2	179438878	179438878	G	A	TTN	c.71981C>T	NM_001267550.2	NP_001254479.2:p.(Ala23994Val)	NC_000002.11:g.179438878G>A	VUS	2 labs	3ca7187c5c
5:89947434 ADGRV1 A>G	5	89947434	89947434	A	G	ADGRV1	c.3303A>G	NM_032119.4	NP_115495.3:p.(Val1101=)	NC_000005.9:g.89947434A>G	(Likely) benign	2 labs	3cae7b5ea3
6:7584620 DSP G>A	6	7584620	7584620	G	A	DSP	c.7125G>A	NM_004415.4	NP_004406.2:p.(Gly2375=)	NC_000006.11:g.7584620G>A	(Likely) benign	4 labs	3caee664e4
14:23889159 MYH7 G>T	14	23889159	23889159	G	T	MYH7	c.3621C>A	NM_000257.4	NP_000248.2:p.(Ile1207=)	NC_000014.8:g.23889159G>T	(Likely) benign	3 labs	3cb8243b31
15:48786466 FBN1 G>A	15	48786466	48786466	G	A	FBN1	c.2678-15C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48786466G>A	(Likely) benign	2 labs	3cbd8d547f
22:32211195 DEPDC5 C>T	22	32211195	32211195	C	T	DEPDC5	c.1663C>T	NM_001242896.3	NP_001229825.1:p.(Arg555Ter)	NC_000022.10:g.32211195C>T	(Likely) pathogenic	2 labs	3cbff8ceeb
6:32037938 TNXB C>A	6	32037938	32037938	C	A	TNXB	c.5244G>T	NM_019105.8	NP_061978.6:p.(Lys1748Asn)	NC_000006.11:g.32037938C>A	VUS	2 labs	3cc57c8367
2:179648507 TTN T>G	2	179648507	179648507	T	G	TTN	c.2781A>C	NM_001267550.2	NP_001254479.2:p.(Thr927=)	NC_000002.11:g.179648507T>G	(Likely) benign	3 labs	3cc72f6a61
7:55268949 EGFR A>G	7	55268949	55268949	A	G	EGFR	c.3015A>G	NM_005228.5	NP_005219.2:p.(Glu1005=)	NC_000007.13:g.55268949A>G	(Likely) benign	3 labs	3cca990191
17:41243921 BRCA1 T>C	17	41243921	41243921	T	C	BRCA1	c.3627A>G	NM_007294.4	NP_009225.1:p.(Leu1209=)	NC_000017.10:g.41243921T>C	(Likely) benign	2 labs	3ccda26019
17:72916175 USH1G G>A	17	72916175	72916175	G	A	USH1G	c.756C>T	NM_173477.5	NP_775748.2:p.(Asp252=)	NC_000017.10:g.72916175G>A	(Likely) benign	2 labs	3cd5841577
17:41256164 BRCA1 T>C	17	41256164	41256164	T	C	BRCA1	c.416A>G	NM_007294.4	NP_009225.1:p.(Gln139Arg)	NC_000017.10:g.41256164T>C	(Likely) benign	2 labs	3cd7ba7ce3
2:179414976 TTN G>A	2	179414976	179414976	G	A	TTN	c.91589C>T	NM_001267550.2	NP_001254479.2:p.(Pro30530Leu)	NC_000002.11:g.179414976G>A	(Likely) benign	3 labs	3ce630ea24
1:227149149 COQ8A G>A	1	227149149	227149149	G	A	COQ8A	c.63G>A	NM_020247.5	NP_064632.2:p.(Ala21=)	NC_000001.10:g.227149149G>A	(Likely) benign	2 labs	3cf7ad574e
13:23911234 SACS G>T	13	23911234	23911234	G	T	SACS	c.6781C>A	NM_014363.6	NP_055178.3:p.(Leu2261Ile)	NC_000013.10:g.23911234G>T	(Likely) benign	4 labs	3d00e3ee12
1:94568581 ABCA4 C>T	1	94568581	94568581	C	T	ABCA4	c.560G>A	NM_000350.3	NP_000341.2:p.(Arg187His)	NC_000001.10:g.94568581C>T	VUS	2 labs	3d18eecd25
7:151949800 KMT2C T>G	7	151949800	151949800	T	G	KMT2C	c.1300A>C	NM_170606.3	NP_733751.2:p.(Asn434His)	NC_000007.13:g.151949800T>G	VUS	2 labs	3d1cac71af
2:112751871 MERTK G>A	2	112751871	112751871	G	A	MERTK	c.1340G>A	NM_006343.3	NP_006334.2:p.(Arg447Gln)	NC_000002.11:g.112751871G>A	(Likely) benign	2 labs	3d24b9156b
11:1861691 TNNI2 G>C	11	1861691	1861691	G	C	TNNI2	c.57+17G>C	NM_001145829.2	NP_001139301.1:p.?	NC_000011.9:g.1861691G>C	(Likely) benign	2 labs	3d3bcfd3d2
14:76429686 TGFB3 C>T	14	76429686	76429686	C	T	TGFB3	c.899G>A	NM_003239.5	NP_003230.1:p.(Arg300Gln)	NC_000014.8:g.76429686C>T	(Likely) pathogenic	2 labs	3d42474946
11:108183151 ATM G>T	11	108183151	108183151	G	T	ATM	c.5932G>T	NM_000051.4	NP_000042.3:p.(Glu1978Ter)	NC_000011.9:g.108183151G>T	(Likely) pathogenic	3 labs	3d443142a4
1:5969202 NPHP4 C>T	1	5969202	5969202	C	T	NPHP4	c.1503+10G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5969202C>T	(Likely) benign	2 labs	3d47142c45
2:189873901 COL3A1 T>C	2	189873901	189873901	T	C	COL3A1	c.3777T>C	NM_000090.4	NP_000081.2:p.(Ala1259=)	NC_000002.11:g.189873901T>C	(Likely) benign	2 labs	3d5bb5abc5
2:179544995 TTN G>T	2	179544995	179544995	G	T	TTN	c.33404C>A	NM_001267550.2	NP_001254479.2:p.(Ala11135Glu)	NC_000002.11:g.179544995G>T	VUS	2 labs	3d685c45af
16:2137899 TSC2 G>A	16	2137899	2137899	G	A	TSC2	c.5025G>A	NM_000548.5	NP_000539.2:p.(Pro1675=)	NC_000016.9:g.2137899G>A	(Likely) benign	2 labs	3d6ebc235f
4:6304167 WFS1 TTTTC>T	4	6304167	6304173	TTTTC	T	WFS1	c.2648_2651del	NM_006005.3	NP_005996.2:p.(Phe883SerfsTer68)	NC_000004.11:g.6304170_6304173del	(Likely) pathogenic	3 labs	3d7aa936f3
X:100662844 GLA A>C	X	100662844	100662844	A	C	GLA	c.48T>G	NM_000169.3	NP_000160.1:p.(Leu16=)	NC_000023.10:g.100662844A>C	(Likely) benign	5 labs	3d83ba2957
18:21124907 NPC1 AC>A	18	21124907	21124916	AC	A	NPC1	c.1947+16del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916del	(Likely) benign	2 labs	3d8ce8fc75
10:61829134 ANK3 T>C	10	61829134	61829134	T	C	ANK3	c.11505A>G	NM_020987.5	NP_066267.2:p.(Leu3835=)	NC_000010.10:g.61829134T>C	(Likely) benign	2 labs	3d9411a90a
10:73563027 CDH23 C>T	10	73563027	73563027	C	T	CDH23	c.7722C>T	NM_022124.6	NP_071407.4:p.(Tyr2574=)	NC_000010.10:g.73563027C>T	(Likely) benign	2 labs	3d97ea171b
6:56342155 DST C>T	6	56342155	56342155	C	T	DST	c.21663G>A	NM_001374736.1	NP_001361665.1:p.(Ala7221=)	NC_000006.11:g.56342155C>T	(Likely) benign	2 labs	3d9c72e7b5
4:106395144 PPA2 T>C	4	106395144	106395144	T	C	PPA2	c.64A>G	NM_176869.3	NP_789845.1:p.(Thr22Ala)	NC_000004.11:g.106395144T>C	(Likely) benign	2 labs	3da005af95
X:114868401 PLS3 T>G	X	114868401	114868401	T	G	PLS3	c.582+8T>G	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114868401T>G	(Likely) benign	2 labs	3da5f8296d
6:152529122 SYNE1 G>A	6	152529122	152529122	G	A	SYNE1	c.22809C>T	NM_182961.4	NP_892006.3:p.(Leu7603=)	NC_000006.11:g.152529122G>A	(Likely) benign	2 labs	3daf5413ce
1:168105581 GPR161 A>AG	1	168105581	168105586	A	AG	GPR161	c.53dup	NM_001267613.1	NP_001254542.1:p.(Gly19TrpfsTer76)	NC_000001.10:g.168105586dup	(Likely) benign	2 labs	3db2da80b2
2:179465691 TTN T>C	2	179465691	179465691	T	C	TTN	c.55940A>G	NM_001267550.2	NP_001254479.2:p.(Glu18647Gly)	NC_000002.11:g.179465691T>C	VUS	2 labs	3db37c42d4
6:33146121 COL11A2 G>A	6	33146121	33146121	G	A	COL11A2	c.1782C>T	NM_080680.3	NP_542411.2:p.(Asp594=)	NC_000006.11:g.33146121G>A	(Likely) benign	3 labs	3db83c6caa
2:220502366 SLC4A3 G>C	2	220502366	220502366	G	C	SLC4A3	c.2680G>C	NM_001326559.2	NP_001313488.2:p.(Asp894His)	NC_000002.11:g.220502366G>C	(Likely) benign	2 labs	3dc96b126a
17:78078636 GAA T>TC	17	78078636	78078643	T	TC	GAA	c.258dup	NM_000152.5	NP_000143.2:p.(Asn87GlnfsTer9)	NC_000017.10:g.78078643dup	(Likely) pathogenic	2 labs	3dc9b4c4f4
2:179644855 TTN T>C	2	179644855	179644855	T	C	TTN	c.3601A>G	NM_001267550.2	NP_001254479.2:p.(Lys1201Glu)	NC_000002.11:g.179644855T>C	(Likely) benign	4 labs	3dcb48cd46
2:179411527 TTN A>G	2	179411527	179411527	A	G	TTN	c.94628T>C	NM_001267550.2	NP_001254479.2:p.(Ile31543Thr)	NC_000002.11:g.179411527A>G	VUS	2 labs	3dce491aa6
10:90703524 ACTA2 C>G	10	90703524	90703524	C	G	ACTA2	c.369+30G>C	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90703524C>G	(Likely) benign	2 labs	3dcf2a60bf
X:49087008 CACNA1F T>C	X	49087008	49087008	T	C	CACNA1F	c.585A>G	NM_005183.4	NP_005174.2:p.(Gly195=)	NC_000023.10:g.49087008T>C	(Likely) benign	2 labs	3dcffca913
16:88501553 ZNF469 A>G	16	88501553	88501553	A	G	ZNF469	c.7675A>G	NM_001367624.2	NP_001354553.1:p.(Lys2559Glu)	NC_000016.9:g.88501553A>G	(Likely) benign	2 labs	3ddbbe5981
6:126072990 HEY2 A>T	6	126072990	126072990	A	T	HEY2	c.127A>T	NM_012259.3	NP_036391.1:p.(Thr43Ser)	NC_000006.11:g.126072990A>T	(Likely) benign	2 labs	3de047caa9
10:54011333 PRKG1 T>C	10	54011333	54011333	T	C	PRKG1	c.1035T>C	NM_001098512.3	NP_001091982.1:p.(Tyr345=)	NC_000010.10:g.54011333T>C	(Likely) benign	2 labs	3df54966d5
12:21329813 SLCO1B1 C>A	12	21329813	21329813	C	A	SLCO1B1	c.463C>A	NM_006446.5	NP_006437.3:p.(Pro155Thr)	NC_000012.11:g.21329813C>A	(Likely) benign	2 labs	3df67facca
9:27213580 TEK T>C	9	27213580	27213580	T	C	TEK	c.2976T>C	NM_000459.5	NP_000450.3:p.(Tyr992=)	NC_000009.11:g.27213580T>C	(Likely) benign	2 labs	3dfb1424c1
13:32912434 BRCA2 G>A	13	32912434	32912434	G	A	BRCA2	c.3942G>A	NM_000059.4	NP_000050.3:p.(Lys1314=)	NC_000013.10:g.32912434G>A	(Likely) benign	3 labs	3e2427e584
2:21230384 APOB C>T	2	21230384	21230384	C	T	APOB	c.9356G>A	NM_000384.3	NP_000375.3:p.(Gly3119Glu)	NC_000002.11:g.21230384C>T	VUS	2 labs	3e31915674
2:200193611 SATB2 C>T	2	200193611	200193611	C	T	SATB2	c.1196G>A	NM_001172509.2	NP_001165980.1:p.(Arg399His)	NC_000002.11:g.200193611C>T	(Likely) pathogenic	2 labs	3e350ce557
5:33951733 SLC45A2 A>G	5	33951733	33951733	A	G	SLC45A2	c.1082T>C	NM_001012509.4	NP_001012527.2:p.(Leu361Pro)	NC_000005.9:g.33951733A>G	(Likely) pathogenic	2 labs	3e3dd03f87
2:182543459 NEUROD1 G>T	2	182543459	182543459	G	T	NEUROD1	c.129C>A	NM_002500.5	NP_002491.3:p.(Leu43=)	NC_000002.11:g.182543459G>T	(Likely) benign	2 labs	3e41e5d8d4
12:88522936 CEP290 C>CTTA	12	88522936	88522940	C	CTTA	CEP290	c.853-127_853-125dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88522938_88522940dup	(Likely) benign	2 labs	3e44a9479a
9:100616481 FOXE1 A>G	9	100616481	100616481	A	G	FOXE1	c.285A>G	NM_004473.4	NP_004464.2:p.(Lys95=)	NC_000009.11:g.100616481A>G	(Likely) benign	2 labs	3e49c7a2e1
14:23889413 MYH7 C>T	14	23889413	23889413	C	T	MYH7	c.3367G>A	NM_000257.4	NP_000248.2:p.(Glu1123Lys)	NC_000014.8:g.23889413C>T	VUS	3 labs	3e4bc21ad7
11:47355505 MYBPC3 C>T	11	47355505	47355505	C	T	MYBPC3	c.2962G>A	NM_000256.3	NP_000247.2:p.(Gly988Arg)	NC_000011.9:g.47355505C>T	VUS	2 labs	3e53b142f6
19:38991640 RYR1 C>G	19	38991640	38991640	C	G	RYR1	c.7614+10C>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38991640C>G	(Likely) benign	2 labs	3e5595b912
14:21794172 RPGRIP1 G>A	14	21794172	21794172	G	A	RPGRIP1	c.2550G>A	NM_020366.4	NP_065099.3:p.(Gln850=)	NC_000014.8:g.21794172G>A	(Likely) benign	2 labs	3e6657353d
13:32911644 BRCA2 T>C	13	32911644	32911644	T	C	BRCA2	c.3152T>C	NM_000059.4	NP_000050.3:p.(Leu1051Ser)	NC_000013.10:g.32911644T>C	(Likely) benign	3 labs	3e69fd8ee4
5:89923486 ADGRV1 T>G	5	89923486	89923486	T	G	ADGRV1	c.1131T>G	NM_032119.4	NP_115495.3:p.(Ser377=)	NC_000005.9:g.89923486T>G	(Likely) benign	2 labs	3e783e0aa7
14:89310195 TTC8 G>A	14	89310195	89310195	G	A	TTC8	c.594+1G>A	NM_001288781.1	NP_001275710.1:p.?	NC_000014.8:g.89310195G>A	(Likely) pathogenic	2 labs	3e7ced7a61
11:119156193 CBL C>T	11	119156193	119156193	C	T	CBL	c.1858C>T	NM_005188.4	NP_005179.2:p.(Leu620Phe)	NC_000011.9:g.119156193C>T	(Likely) benign	4 labs	3e7f182f5f
2:189873737 COL3A1 A>G	2	189873737	189873737	A	G	COL3A1	c.3613A>G	NM_000090.4	NP_000081.2:p.(Ile1205Val)	NC_000002.11:g.189873737A>G	(Likely) benign	2 labs	3e7fec5a5a
2:21232155 APOB G>T	2	21232155	21232155	G	T	APOB	c.7585C>A	NM_000384.3	NP_000375.3:p.(Gln2529Lys)	NC_000002.11:g.21232155G>T	(Likely) benign	2 labs	3e848e2fe2
X:152034468 NSDHL G>A	X	152034468	152034468	G	A	NSDHL	c.649G>A	NM_001129765.2	NP_001123237.1:p.(Glu217Lys)	NC_000023.10:g.152034468G>A	(Likely) benign	2 labs	3e8e17c497
3:63968134 ATXN7 T>A	3	63968134	63968134	T	A	ATXN7	c.1012+13T>A	NM_000333.4	NP_000324.1:p.?	NC_000003.11:g.63968134T>A	(Likely) benign	2 labs	3e905b1f83
4:114264202 ANK2 T>C	4	114264202	114264202	T	C	ANK2	c.4152T>C	NM_001148.6	NP_001139.3:p.(Asp1384=)	NC_000004.11:g.114264202T>C	(Likely) benign	3 labs	3e90a70518
2:44101100 ABCG8 C>T	2	44101100	44101100	C	T	ABCG8	c.1386C>T	NM_022437.3	NP_071882.1:p.(Asn462=)	NC_000002.11:g.44101100C>T	(Likely) benign	2 labs	3e9525bfb0
X:71801001 PHKA1 T>C	X	71801001	71801001	T	C	PHKA1	c.3523A>G	NM_002637.4	NP_002628.2:p.(Met1175Val)	NC_000023.10:g.71801001T>C	(Likely) benign	4 labs	3e95541350
7:33407373 BBS9 T>C	7	33407373	33407373	T	C	BBS9	c.1694-6T>C	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33407373T>C	(Likely) benign	2 labs	3e99b2d6e8
8:87656008 CNGB3 AG>A	8	87656008	87656009	AG	A	CNGB3	c.1148del	NM_019098.4	NP_061971.3:p.(Thr383IlefsTer13)	NC_000008.10:g.87656009del	(Likely) pathogenic	4 labs	3e9db7bd30
10:69961656 MYPN C>T	10	69961656	69961656	C	T	MYPN	c.2682C>T	NM_001256268.2	NP_001243197.1:p.(Pro894=)	NC_000010.10:g.69961656C>T	(Likely) benign	2 labs	3eab5c918c
6:56481397 DST T>C	6	56481397	56481397	T	C	DST	c.6868A>G	NM_001723.7	NP_001714.1:p.(Arg2290Gly)	NC_000006.11:g.56481397T>C	VUS	2 labs	3ec03f63b7
2:74605383 DCTN1 C>A	2	74605383	74605383	C	A	DCTN1	c.34-11G>T	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74605383C>A	(Likely) benign	2 labs	3ecae48e6a
17:41244982 BRCA1 A>G	17	41244982	41244982	A	G	BRCA1	c.2566T>C	NM_007294.4	NP_009225.1:p.(Tyr856His)	NC_000017.10:g.41244982A>G	(Likely) benign	4 labs	3ecd2bdd6a
7:140481476 BRAF C>T	7	140481476	140481476	C	T	BRAF	c.1332G>A	NM_004333.6	NP_004324.2:p.(Arg444=)	NC_000007.13:g.140481476C>T	(Likely) benign	2 labs	3ed17e20d8
1:94493272 ABCA4 C>A	1	94493272	94493272	C	A	ABCA4	c.4539+1729G>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94493272C>A	(Likely) pathogenic	2 labs	3edef17530
2:179666930 TTN C>T	2	179666930	179666930	C	T	TTN	c.230G>A	NM_133378.4	NP_596869.4:p.(Arg77Gln)	NC_000002.11:g.179666930C>T	VUS	2 labs	3ee660cbaa
12:49374999 WNT1 G>A	12	49374999	49374999	G	A	WNT1	c.689G>A	NM_005430.4	NP_005421.1:p.(Arg230His)	NC_000012.11:g.49374999G>A	VUS	2 labs	3ef6995c2d
2:238243292 COL6A3 G>A	2	238243292	238243292	G	A	COL6A3	c.9206C>T	NM_004369.4	NP_004360.2:p.(Thr3069Ile)	NC_000002.11:g.238243292G>A	(Likely) benign	4 labs	3efc88cc60
10:88672153 BMPR1A G>A	10	88672153	88672153	G	A	BMPR1A	c.675+12G>A	NM_004329.3	NP_004320.2:p.?	NC_000010.10:g.88672153G>A	(Likely) benign	3 labs	3effbe552c
7:30662087 GARS1 T>C	7	30662087	30662087	T	C	GARS1	c.1613+9T>C	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30662087T>C	(Likely) benign	2 labs	3f06f0d6a0
10:18439808 CACNB2 T>TTTG	10	18439808	18439810	T	TTTG	CACNB2	c.37-3_37-2insTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTGT	(Likely) benign	2 labs	3f0cfa8a36
2:51255190 NRXN1 G>A	2	51255190	51255190	G	A	NRXN1	c.222C>T	NM_001135659.3	NP_001129131.1:p.(Gly74=)	NC_000002.11:g.51255190G>A	(Likely) benign	2 labs	3f0d247216
2:179430146 TTN C>T	2	179430146	179430146	C	T	TTN	c.80713G>A	NM_001267550.2	NP_001254479.2:p.(Gly26905Ser)	NC_000002.11:g.179430146C>T	VUS	2 labs	3f146b120f
2:179587270 TTN C>T	2	179587270	179587270	C	T	TTN	c.22244G>A	NM_001267550.2	NP_001254479.2:p.(Arg7415His)	NC_000002.11:g.179587270C>T	VUS	2 labs	3f194deee7
3:38639443 SCN5A C>T	3	38639443	38639443	C	T	SCN5A	c.2039G>A	NM_001099404.2	NP_001092874.1:p.(Arg680His)	NC_000003.11:g.38639443C>T	(Likely) benign	3 labs	3f3175584c
1:237777582 RYR2 G>A	1	237777582	237777582	G	A	RYR2	c.5154G>A	NM_001035.3	NP_001026.2:p.(Arg1718=)	NC_000001.10:g.237777582G>A	(Likely) benign	2 labs	3f31a46990
16:2138584 TSC2 G>C	16	2138584	2138584	G	C	TSC2				NC_000016.9:g.2138584G>C	(Likely) benign	2 labs	3f42af8b91
3:121507231 IQCB1 A>T	3	121507231	121507231	A	T	IQCB1	c.1178T>A	NM_001023570.4	NP_001018864.2:p.(Ile393Asn)	NC_000003.11:g.121507231A>T	(Likely) benign	3 labs	3f43e818f5
8:133913747 TG G>A	8	133913747	133913747	G	A	TG	c.3583G>A	NM_003235.5	NP_003226.4:p.(Gly1195Arg)	NC_000008.10:g.133913747G>A	(Likely) benign	2 labs	3f4416e4d6
1:197391014 CRB1 C>T	1	197391014	197391014	C	T	CRB1	c.1849C>T	NM_001257965.2	NP_001244894.1:p.(Arg617Cys)	NC_000001.10:g.197391014C>T	VUS	2 labs	3f44c7b976
19:45867713 ERCC2 G>A	19	45867713	45867713	G	A	ERCC2	c.687C>T	NM_000400.4	NP_000391.1:p.(Ala229=)	NC_000019.9:g.45867713G>A	(Likely) benign	3 labs	3f4a0d59b8
11:108190700 ATM A>G	11	108190700	108190700	A	G	ATM	c.6367A>G	NM_000051.4	NP_000042.3:p.(Ser2123Gly)	NC_000011.9:g.108190700A>G	VUS	2 labs	3f50a59f0e
8:100493997 VPS13B C>T	8	100493997	100493997	C	T	VPS13B	c.3837C>T	NM_017890.5	NP_060360.3:p.(Cys1279=)	NC_000008.10:g.100493997C>T	(Likely) benign	2 labs	3f58c9d6d8
2:179598574 TTN C>G	2	179598574	179598574	C	G	TTN	c.15542G>C	NM_001267550.2	NP_001254479.2:p.(Gly5181Ala)	NC_000002.11:g.179598574C>G	(Likely) benign	2 labs	3f5c913896
11:108186836 ATM T>C	11	108186836	108186836	T	C	ATM	c.6194T>C	NM_000051.4	NP_000042.3:p.(Ile2065Thr)	NC_000011.9:g.108186836T>C	VUS	2 labs	3f63d71f43
17:29652884 NF1 T>C	17	29652884	29652884	T	C	NF1	c.4882T>C	NM_001042492.3	NP_001035957.1:p.(Leu1628=)	NC_000017.10:g.29652884T>C	(Likely) benign	2 labs	3f6a8cd2b8
9:107602666 ABCA1 C>T	9	107602666	107602666	C	T	ABCA1	c.948G>A	NM_005502.4	NP_005493.2:p.(Gly316=)	NC_000009.11:g.107602666C>T	(Likely) benign	2 labs	3f6b8e43bf
17:4802111 CHRNE C>G	17	4802111	4802111	C	G	CHRNE	c.1402G>C	NM_000080.4	NP_000071.1:p.(Val468Leu)	NC_000017.10:g.4802111C>G	(Likely) benign	3 labs	3f7e5a545d
8:1830794 ARHGEF10 G>A	8	1830794	1830794	G	A	ARHGEF10	c.1036-7G>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1830794G>A	(Likely) benign	2 labs	3f83c36362
9:22006043 CDKN2B G>A	9	22006043	22006043	G	A	CDKN2B	c.360C>T	NM_004936.4	NP_004927.2:p.(Ala120=)	NC_000009.11:g.22006043G>A	(Likely) benign	2 labs	3f8c54add0
5:58273033 PDE4D T>C	5	58273033	58273033	T	C	PDE4D	c.1692A>G	NM_001104631.2	NP_001098101.1:p.(Lys564=)	NC_000005.9:g.58273033T>C	(Likely) benign	2 labs	3f93cfad74
15:80873642 ARNT2 C>G	15	80873642	80873642	C	G	ARNT2	c.1815C>G	NM_014862.4	NP_055677.3:p.(Thr605=)	NC_000015.9:g.80873642C>G	(Likely) benign	2 labs	3f9712ba87
11:111958686 SDHD C>T	11	111958686	111958686	C	T	SDHD	c.158C>T	NM_003002.4	NP_002993.1:p.(Pro53Leu)	NC_000011.9:g.111958686C>T	VUS	2 labs	3fa09e9f7f
X:100653916 GLA G>A	X	100653916	100653916	G	A	GLA	c.658C>T	NM_000169.3	NP_000160.1:p.(Arg220Ter)	NC_000023.10:g.100653916G>A	(Likely) pathogenic	2 labs	3fa37190d7
11:68678947 IGHMBP2 A>G	11	68678947	68678947	A	G	IGHMBP2	c.587A>G	NM_002180.3	NP_002171.2:p.(Gln196Arg)	NC_000011.9:g.68678947A>G	(Likely) pathogenic	2 labs	3faa839f95
10:78317029 LRMDA C>T	10	78317029	78317029	C	T	LRMDA	c.580C>T	NM_032024.5	NP_114413.1:p.(Arg194Ter)	NC_000010.10:g.78317029C>T	(Likely) pathogenic	2 labs	3fb169a2d4
3:87325586 POU1F1 A>G	3	87325586	87325586	A	G	POU1F1	c.27T>C	NM_000306.4	NP_000297.1:p.(Ala9=)	NC_000003.11:g.87325586A>G	(Likely) benign	2 labs	3fb6c9c782
14:95566105 DICER1 AC>A	14	95566105	95566106	AC	A	DICER1	c.4206+11del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566106del	(Likely) benign	3 labs	3fbda9ff1d
2:1500456 TPO C>T	2	1500456	1500456	C	T	TPO	c.2305C>T	NM_000547.6	NP_000538.3:p.(Arg769Trp)	NC_000002.11:g.1500456C>T	(Likely) benign	2 labs	3fc7a5f142
12:32949242 PKP2 GA>G	12	32949242	32949252	GA	G	PKP2	c.2300-11del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949252del	(Likely) benign	2 labs	3fd72ce2ab
2:86565130 REEP1 C>A	2	86565130	86565130	C	A	REEP1	c.53+17G>T	NM_001164730.2	NP_001158202.1:p.?	NC_000002.11:g.86565130C>A	(Likely) benign	2 labs	3fdcdc7ff5
17:42428538 GRN G>A	17	42428538	42428538	G	A	GRN	c.835+7G>A	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42428538G>A	(Likely) benign	3 labs	3fdeb4a658
2:179411023 TTN C>T	2	179411023	179411023	C	T	TTN	c.95035G>A	NM_001267550.2	NP_001254479.2:p.(Asp31679Asn)	NC_000002.11:g.179411023C>T	(Likely) benign	5 labs	3feca64d03
12:32949171 PKP2 A>C	12	32949171	32949171	A	C	PKP2	c.2361T>G	NM_004572.4	NP_004563.2:p.(Leu787=)	NC_000012.11:g.32949171A>C	(Likely) benign	2 labs	3fef9b051c
4:3495220 DOK7 C>A	4	3495220	3495220	C	A	DOK7	c.1507C>A	NM_173660.5	NP_775931.3:p.(Pro503Thr)	NC_000004.11:g.3495220C>A	(Likely) benign	2 labs	3ff4ce2c6d
11:62388013 B3GAT3 G>A	11	62388013	62388013	G	A	B3GAT3	c.213C>T	NM_012200.4	NP_036332.2:p.(Pro71=)	NC_000011.9:g.62388013G>A	(Likely) benign	2 labs	3ff7a9aa02
8:10480680 RP1L1 G>A	8	10480680	10480680	G	A	RP1L1	c.32C>T	NM_178857.6	NP_849188.4:p.(Pro11Leu)	NC_000008.10:g.10480680G>A	(Likely) benign	2 labs	3ffca74e43
18:21124907 NPC1 A>C	18	21124907	21124907	A	C	NPC1	c.1947+17T>G	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124907A>C	(Likely) benign	2 labs	3ffd19ed07
3:132440789 NPHP3 G>A	3	132440789	132440789	G	A	NPHP3	c.393+18C>T	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132440789G>A	(Likely) benign	2 labs	400d386cce
22:29881828 NEFH C>T	22	29881828	29881828	C	T	NEFH	c.1200C>T	NM_021076.4	NP_066554.2:p.(Ala400=)	NC_000022.10:g.29881828C>T	(Likely) benign	2 labs	4024eeb183
7:128496959 FLNC C>T	7	128496959	128496959	C	T	FLNC	c.7545C>T	NM_001458.5	NP_001449.3:p.(Leu2515=)	NC_000007.13:g.128496959C>T	(Likely) benign	2 labs	402ba0480e
10:112590809 RBM20 C>T	10	112590809	112590809	C	T	RBM20	c.3452-10C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112590809C>T	(Likely) benign	3 labs	4032f2fe2c
2:39281905 SOS1 G>A	2	39281905	39281905	G	A	SOS1	c.570C>T	NM_005633.4	NP_005624.2:p.(Asp190=)	NC_000002.11:g.39281905G>A	(Likely) benign	2 labs	40431084aa
9:79954463 VPS13A A>G	9	79954463	79954463	A	G	VPS13A	c.6410A>G	NM_033305.3	NP_150648.2:p.(Glu2137Gly)	NC_000009.11:g.79954463A>G	(Likely) benign	2 labs	404fd94dd1
15:35084642 ACTC1 G>A	15	35084642	35084642	G	A	ACTC1	c.583C>T	NM_005159.5	NP_005150.1:p.(Leu195Phe)	NC_000015.9:g.35084642G>A	VUS	2 labs	406a6334e8
3:38755466 SCN10A G>A	3	38755466	38755466	G	A	SCN10A	c.3787C>T	NM_006514.4	NP_006505.4:p.(Arg1263Ter)	NC_000003.11:g.38755466G>A	VUS	2 labs	407405c70b
X:70351950 MED12 G>A	X	70351950	70351950	G	A	MED12	c.4147G>A	NM_005120.3	NP_005111.2:p.(Ala1383Thr)	NC_000023.10:g.70351950G>A	(Likely) pathogenic	2 labs	408389aa22
7:33185898 BBS9 A>G	7	33185898	33185898	A	G	BBS9	c.34A>G	NM_198428.3	NP_940820.1:p.(Thr12Ala)	NC_000007.13:g.33185898A>G	(Likely) benign	2 labs	4087d15bd3
14:105246407 AKT1 G>A	14	105246407	105246407	G	A	AKT1	c.175+18C>T	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105246407G>A	(Likely) benign	2 labs	408cd35823
6:152697675 SYNE1 G>T	6	152697675	152697675	G	T	SYNE1	c.9165C>A	NM_182961.4	NP_892006.3:p.(Ser3055=)	NC_000006.11:g.152697675G>T	(Likely) benign	3 labs	40905f71e4
11:47368170 MYBPC3 G>A	11	47368170	47368170	G	A	MYBPC3	c.926+8C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368170G>A	(Likely) benign	4 labs	4097812c6d
2:238249630 COL6A3 C>T	2	238249630	238249630	C	T	COL6A3	c.7929G>A	NM_004369.4	NP_004360.2:p.(Ala2643=)	NC_000002.11:g.238249630C>T	(Likely) benign	3 labs	40b6a4b979
2:220079136 ABCB6 A>G	2	220079136	220079136	A	G	ABCB6	c.1361T>C	NM_005689.4	NP_005680.1:p.(Val454Ala)	NC_000002.11:g.220079136A>G	(Likely) benign	2 labs	40b12b1611
13:32914132 BRCA2 T>G	13	32914132	32914132	T	G	BRCA2	c.5640T>G	NM_000059.4	NP_000050.3:p.(Asn1880Lys)	NC_000013.10:g.32914132T>G	(Likely) benign	4 labs	40bc9a698f
4:100534205 MTTP G>A	4	100534205	100534205	G	A	MTTP	c.2125G>A	NM_000253.4	NP_000244.2:p.(Gly709Arg)	NC_000004.11:g.100534205G>A	VUS	2 labs	40bd3a21c2
2:179587536 TTN G>A	2	179587536	179587536	G	A	TTN	c.22090C>T	NM_001267550.2	NP_001254479.2:p.(Arg7364Trp)	NC_000002.11:g.179587536G>A	VUS	3 labs	40bf1de94e
16:2112516 TSC2 C>T	16	2112516	2112516	C	T	TSC2	c.1276C>T	NM_000548.5	NP_000539.2:p.(Leu426=)	NC_000016.9:g.2112516C>T	(Likely) benign	3 labs	40c3b4259c
4:128841981 MFSD8 A>G	4	128841981	128841981	A	G	MFSD8	c.1361T>C	NM_152778.3	NP_689991.1:p.(Met454Thr)	NC_000004.11:g.128841981A>G	(Likely) pathogenic	2 labs	40cc4d9000
2:27704032 IFT172 A>G	2	27704032	27704032	A	G	IFT172	c.666T>C	NM_015662.3	NP_056477.1:p.(Tyr222=)	NC_000002.11:g.27704032A>G	(Likely) benign	2 labs	40d1d3a4d9
3:30713794 TGFBR2 G>A	3	30713794	30713794	G	A	TGFBR2	c.1194G>A	NM_001024847.2	NP_001020018.1:p.(Met398Ile)	NC_000003.11:g.30713794G>A	(Likely) benign	5 labs	40ded50a0f
20:10623149 JAG1 G>A	20	10623149	10623149	G	A	JAG1	c.2559C>T	NM_000214.3	NP_000205.1:p.(Ala853=)	NC_000020.10:g.10623149G>A	(Likely) benign	2 labs	40e13cefb9
8:134296524 NDRG1 C>T	8	134296524	134296524	C	T	NDRG1	c.31G>A	NM_001135242.2	NP_001128714.1:p.(Ala11Thr)	NC_000008.10:g.134296524C>T	(Likely) benign	2 labs	40ee8b1858
13:32913422 BRCA2 GA>G	13	32913422	32913427	GA	G	BRCA2	c.4935del	NM_000059.4	NP_000050.3:p.(Glu1646LysfsTer24)	NC_000013.10:g.32913427del	(Likely) pathogenic	3 labs	40eb085345
10:102584448 PAX2 C>T	10	102584448	102584448	C	T	PAX2	c.963C>T	NM_003988.5	NP_003979.2:p.(His321=)	NC_000010.10:g.102584448C>T	(Likely) benign	2 labs	40f550f79a
20:45354185 SLC2A10 G>A	20	45354185	45354185	G	A	SLC2A10	c.510G>A	NM_030777.4	NP_110404.1:p.(Trp170Ter)	NC_000020.10:g.45354185G>A	(Likely) pathogenic	3 labs	40f5d993cc
12:2602441 CACNA1C C>T	12	2602441	2602441	C	T	CACNA1C	c.1002C>T	NM_199460.4	NP_955630.3:p.(Pro334=)	NC_000012.11:g.2602441C>T	(Likely) benign	2 labs	40f62241ae
2:179639799 TTN C>A	2	179639799	179639799	C	A	TTN	c.6639G>T	NM_001267550.2	NP_001254479.2:p.(Glu2213Asp)	NC_000002.11:g.179639799C>A	VUS	2 labs	40f90ee204
4:114257165 ANK2 C>T	4	114257165	114257165	C	T	ANK2	c.3543C>T	NM_001148.6	NP_001139.3:p.(Ala1181=)	NC_000004.11:g.114257165C>T	(Likely) benign	3 labs	4107267a63
7:150649959 KCNH2 G>A	7	150649959	150649959	G	A	KCNH2	c.1129-18C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150649959G>A	(Likely) benign	3 labs	4109aa5ed2
1:120458004 NOTCH2 A>T	1	120458004	120458004	A	T	NOTCH2	c.7341T>A	NM_024408.4	NP_077719.2:p.(Gly2447=)	NC_000001.10:g.120458004A>T	(Likely) benign	2 labs	4123c57da3
18:31319825 ASXL3 T>C	18	31319825	31319825	T	C	ASXL3	c.2457T>C	NM_030632.3	NP_085135.1:p.(Ala819=)	NC_000018.9:g.31319825T>C	(Likely) benign	2 labs	4126c683b6
1:43394887 SLC2A1 G>A	1	43394887	43394887	G	A	SLC2A1	c.966C>T	NM_006516.4	NP_006507.2:p.(Val322=)	NC_000001.10:g.43394887G>A	(Likely) benign	4 labs	41275d5929
5:90004736 ADGRV1 G>A	5	90004736	90004736	G	A	ADGRV1	c.8824+10G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90004736G>A	(Likely) benign	2 labs	412fe26bd0
1:3328219 PRDM16 C>T	1	3328219	3328219	C	T	PRDM16	c.1458C>T	NM_022114.4	NP_071397.3:p.(Asn486=)	NC_000001.10:g.3328219C>T	(Likely) benign	2 labs	41348d53da
13:32900437 BRCA2 T>C	13	32900437	32900437	T	C	BRCA2	c.516+18T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900437T>C	(Likely) benign	4 labs	413c557568
13:41367423 SLC25A15 G>C	13	41367423	41367423	G	C	SLC25A15	c.55+6G>C	NM_014252.4	NP_055067.1:p.?	NC_000013.10:g.41367423G>C	(Likely) benign	2 labs	4148d1695e
19:42490376 ATP1A3 G>A	19	42490376	42490376	G	A	ATP1A3	c.402C>T	NM_001256214.2	NP_001243143.1:p.(Tyr134=)	NC_000019.9:g.42490376G>A	(Likely) benign	3 labs	415eecb250
5:180048214 FLT4 G>C	5	180048214	180048214	G	C	FLT4	c.2059C>G	NM_182925.5	NP_891555.2:p.(Leu687Val)	NC_000005.9:g.180048214G>C	(Likely) benign	2 labs	416b3b0d1a
19:38981284 RYR1 A>G	19	38981284	38981284	A	G	RYR1	c.6039A>G	NM_000540.3	NP_000531.2:p.(Lys2013=)	NC_000019.9:g.38981284A>G	(Likely) benign	2 labs	416d3ec1a2
16:1270554 CACNA1H G>A	16	1270554	1270554	G	A	CACNA1H	c.6622G>A	NM_021098.3	NP_066921.2:p.(Ala2208Thr)	NC_000016.9:g.1270554G>A	(Likely) benign	3 labs	4170144891
2:189940142 COL5A2 T>G	2	189940142	189940142	T	G	COL5A2	c.1081A>C	NM_000393.5	NP_000384.2:p.(Met361Leu)	NC_000002.11:g.189940142T>G	(Likely) benign	3 labs	4177d81ae5
X:9728866 GPR143 C>T	X	9728866	9728866	C	T	GPR143	c.251G>A	NM_000273.3	NP_000264.2:p.(Gly84Asp)	NC_000023.10:g.9728866C>T	(Likely) pathogenic	2 labs	4178910d77
2:179604974 TTN C>T	2	179604974	179604974	C	T	TTN	c.12986G>A	NM_001267550.2	NP_001254479.2:p.(Arg4329Lys)	NC_000002.11:g.179604974C>T	(Likely) benign	2 labs	4188193db0
17:41246531 BRCA1 C>CT	17	41246531	41246538	C	CT	BRCA1	c.1016dup	NM_007294.4	NP_009225.1:p.(Val340GlyfsTer6)	NC_000017.10:g.41246538dup	(Likely) pathogenic	2 labs	418bee3d50
15:48780650 FBN1 G>A	15	48780650	48780650	G	A	FBN1	c.3123C>T	NM_000138.5	NP_000129.3:p.(His1041=)	NC_000015.9:g.48780650G>A	(Likely) benign	2 labs	418d9955c8
9:139396338 NOTCH1 G>A	9	139396338	139396338	G	A	NOTCH1	c.5500C>T	NM_017617.5	NP_060087.3:p.(Leu1834=)	NC_000009.11:g.139396338G>A	(Likely) benign	2 labs	41920227e7
3:123427662 MYLK C>T	3	123427662	123427662	C	T	MYLK	c.2023G>A	NM_053025.4	NP_444253.3:p.(Gly675Arg)	NC_000003.11:g.123427662C>T	VUS	2 labs	419efe01b1
1:235922565 LYST T>C	1	235922565	235922565	T	C	LYST	c.6588A>G	NM_001301365.1	NP_001288294.1:p.(Gly2196=)	NC_000001.10:g.235922565T>C	(Likely) benign	3 labs	41ba7c75e5
1:235826382 LYST T>TA	1	235826382	235826395	T	TA	LYST	c.11268-5dup	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235826395dup	(Likely) benign	2 labs	41bffe51d8
10:112543156 RBM20 C>T	10	112543156	112543156	C	T	RBM20	c.1308C>T	NM_001134363.3	NP_001127835.2:p.(His436=)	NC_000010.10:g.112543156C>T	(Likely) benign	2 labs	41d07a4ce2
5:127653911 FBN2 G>A	5	127653911	127653911	G	A	FBN2	c.4647C>T	NM_001999.4	NP_001990.2:p.(Asn1549=)	NC_000005.9:g.127653911G>A	(Likely) benign	2 labs	41d1faf01f
2:179544685 TTN CTCT>C	2	179544685	179544700	CTCT	C	TTN	c.33513_33515del	NM_001267550.2	NP_001254479.2:p.(Glu11172del)	NC_000002.11:g.179544698_179544700del	VUS	2 labs	41ddf3dc9e
10:68139039 CTNNA3 G>A	10	68139039	68139039	G	A	CTNNA3	c.1603C>T	NM_013266.4	NP_037398.2:p.(Arg535Cys)	NC_000010.10:g.68139039G>A	(Likely) benign	4 labs	41de6cb28e
18:19345720 MIB1 C>T	18	19345720	19345720	C	T	MIB1	c.230-13C>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19345720C>T	(Likely) benign	2 labs	41e6da979b
19:10260243 DNMT1 C>T	19	10260243	10260243	C	T	DNMT1	c.2472G>A	NM_001130823.3	NP_001124295.1:p.(Thr824=)	NC_000019.9:g.10260243C>T	(Likely) benign	3 labs	41f3565a57
14:74992800 LTBP2 A>G	14	74992800	74992800	A	G	LTBP2	c.2406T>C	NM_000428.3	NP_000419.1:p.(Thr802=)	NC_000014.8:g.74992800A>G	(Likely) benign	2 labs	41f36d2414
3:123444785 MYLK A>T	3	123444785	123444785	A	T	MYLK	c.1651+6T>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123444785A>T	(Likely) benign	2 labs	41fa082631
15:42681199 CAPN3 G>A	15	42681199	42681199	G	A	CAPN3	c.706G>A	NM_000070.3	NP_000061.1:p.(Ala236Thr)	NC_000015.9:g.42681199G>A	(Likely) benign	2 labs	4205ecefbc
2:179486241 TTN G>A	2	179486241	179486241	G	A	TTN	c.45310C>T	NM_001267550.2	NP_001254479.2:p.(Leu15104Phe)	NC_000002.11:g.179486241G>A	VUS	3 labs	420bc9f461
15:89867380 POLG C>T	15	89867380	89867380	C	T	POLG	c.2028G>A	NM_001126131.2	NP_001119603.1:p.(Ala676=)	NC_000015.9:g.89867380C>T	(Likely) benign	2 labs	421570bc10
3:179119066 GNB4 C>T	3	179119066	179119066	C	T	GNB4	c.958G>A	NM_021629.4	NP_067642.1:p.(Val320Ile)	NC_000003.11:g.179119066C>T	(Likely) benign	2 labs	42210986b8
11:1782594 CTSD G>A	11	1782594	1782594	G	A	CTSD	c.173C>T	NM_001909.5	NP_001900.1:p.(Ala58Val)	NC_000011.9:g.1782594G>A	(Likely) benign	2 labs	42224bb211
2:179428175 TTN A>G	2	179428175	179428175	A	G	TTN	c.74980T>C	NM_133378.4	NP_596869.4:p.(Tyr24994His)	NC_000002.11:g.179428175A>G	VUS	2 labs	42256ccad6
6:32191658 NOTCH4 T>TAGC	6	32191658	32191690	T	TAGC	NOTCH4	c.45_47dup	NM_004557.4	NP_004548.3:p.(Leu16dup)	NC_000006.11:g.32191688_32191690dup	(Likely) benign	2 labs	422fc977a8
10:112356199 SMC3 T>C	10	112356199	112356199	T	C	SMC3	c.2007T>C	NM_005445.4	NP_005436.1:p.(Tyr669=)	NC_000010.10:g.112356199T>C	(Likely) benign	2 labs	423666eec4
1:12026355 PLOD1 A>C	1	12026355	12026355	A	C	PLOD1	c.1632A>C	NM_000302.4	NP_000293.2:p.(Ala544=)	NC_000001.10:g.12026355A>C	(Likely) benign	2 labs	4238e41bac
3:197431446 RUBCN C>T	3	197431446	197431446	C	T	RUBCN	c.250G>A	NM_001145642.4	NP_001139114.1:p.(Gly84Arg)	NC_000003.11:g.197431446C>T	(Likely) benign	3 labs	42397d67fd
11:118023371 SCN4B G>T	11	118023371	118023371	G	T	SCN4B	c.18C>A	NM_174934.4	NP_777594.1:p.(Asp6Glu)	NC_000011.9:g.118023371G>T	(Likely) benign	3 labs	424edba34f
10:112541650 RBM20 G>T	10	112541650	112541650	G	T	RBM20	c.1275+8G>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112541650G>T	(Likely) benign	5 labs	42514188ba
4:494258 PIGG G>T	4	494258	494258	G	T	PIGG	c.228G>T	NM_001127178.3	NP_001120650.1:p.(Leu76Phe)	NC_000004.11:g.494258G>T	VUS	2 labs	42584a91fe
5:90368384 ADGRV1 A>G	5	90368384	90368384	A	G	ADGRV1	c.18273A>G	NM_032119.4	NP_115495.3:p.(Ala6091=)	NC_000005.9:g.90368384A>G	(Likely) benign	3 labs	42598aa1b1
2:179483597 TTN CAT>C	2	179483597	179483599	CAT	C	TTN	c.46697-19_46697-18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483598_179483599del	(Likely) benign	3 labs	426aaa4b64
18:43432551 EPG5 A>G	18	43432551	43432551	A	G	EPG5	c.7621T>C	NM_020964.3	NP_066015.2:p.(Leu2541=)	NC_000018.9:g.43432551A>G	(Likely) benign	2 labs	426926f2c1
2:179648965 TTN A>G	2	179648965	179648965	A	G	TTN	c.2607T>C	NM_001267550.2	NP_001254479.2:p.(Thr869=)	NC_000002.11:g.179648965A>G	(Likely) benign	2 labs	4273decd17
22:37158985 IFT27 G>A	22	37158985	37158985	G	A	IFT27	c.425C>T	NM_001177701.3	NP_001171172.1:p.(Ala142Val)	NC_000022.10:g.37158985G>A	(Likely) benign	2 labs	427c05c5a9
7:81641570 CACNA2D1 G>GAAAA	7	81641570	81641583	G	GAAAA	CACNA2D1	c.1273-15_1273-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641580_81641583dup	(Likely) benign	3 labs	428bf36941
7:128493011 FLNC G>A	7	128493011	128493011	G	A	FLNC	c.6134G>A	NM_001458.5	NP_001449.3:p.(Arg2045Gln)	NC_000007.13:g.128493011G>A	VUS	2 labs	428f900267
7:128493794 FLNC C>T	7	128493794	128493794	C	T	FLNC	c.6387C>T	NM_001458.5	NP_001449.3:p.(Thr2129=)	NC_000007.13:g.128493794C>T	(Likely) benign	3 labs	428fd97bb8
3:132401603 NPHP3 G>C	3	132401603	132401603	G	C	NPHP3	c.3756C>G	NM_153240.5	NP_694972.3:p.(Ser1252Arg)	NC_000003.11:g.132401603G>C	VUS	2 labs	429008fd14
2:212248660 ERBB4 C>A	2	212248660	212248660	C	A	ERBB4	c.3607G>T	NM_005235.3	NP_005226.1:p.(Val1203Leu)	NC_000002.11:g.212248660C>A	(Likely) benign	3 labs	4293216252
13:32900433 BRCA2 C>T	13	32900433	32900433	C	T	BRCA2	c.516+14C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900433C>T	(Likely) benign	4 labs	429b8c640c
17:37822049 TCAP C>T	17	37822049	37822049	C	T	TCAP	c.191C>T	NM_003673.4	NP_003664.1:p.(Ser64Leu)	NC_000017.10:g.37822049C>T	(Likely) benign	3 labs	42b445080d
2:47641559 MSH2 TAAA>T	2	47641559	47641586	TAAA	T	MSH2	c.942+27_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641584_47641586del	(Likely) benign	3 labs	42c7c474c9
11:47370110 MYBPC3 C>T	11	47370110	47370110	C	T	MYBPC3	c.655-18G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370110C>T	(Likely) benign	5 labs	42ca33cf3f
11:119155732 CBL G>A	11	119155732	119155732	G	A	CBL	c.1485G>A	NM_005188.4	NP_005179.2:p.(Pro495=)	NC_000011.9:g.119155732G>A	(Likely) benign	4 labs	42cc13ba11
14:90429760 TDP1 C>T	14	90429760	90429760	C	T	TDP1	c.302C>T	NM_018319.4	NP_060789.2:p.(Pro101Leu)	NC_000014.8:g.90429760C>T	(Likely) benign	2 labs	42ce451179
1:175365732 TNR G>A	1	175365732	175365732	G	A	TNR	c.1188C>T	NM_003285.3	NP_003276.3:p.(Tyr396=)	NC_000001.10:g.175365732G>A	(Likely) benign	2 labs	42cea08291
2:238274402 COL6A3 G>A	2	238274402	238274402	G	A	COL6A3	c.5777C>T	NM_004369.4	NP_004360.2:p.(Thr1926Met)	NC_000002.11:g.238274402G>A	VUS	2 labs	42d2871389
7:30651830 GARS1 A>T	7	30651830	30651830	A	T	GARS1	c.1000A>T	NM_002047.4	NP_002038.2:p.(Ile334Phe)	NC_000007.13:g.30651830A>T	(Likely) pathogenic	2 labs	42d55159a8
2:179592535 TTN T>C	2	179592535	179592535	T	C	TTN	c.19770A>G	NM_001267550.2	NP_001254479.2:p.(Thr6590=)	NC_000002.11:g.179592535T>C	(Likely) benign	2 labs	42e98ac264
X:47003868 NDUFB11 T>C	X	47003868	47003868	T	C	NDUFB11	c.207+4A>G	NM_019056.7	NP_061929.2:p.?	NC_000023.10:g.47003868T>C	(Likely) benign	2 labs	42eed37d5e
2:179458015 TTN C>T	2	179458015	179458015	C	T	TTN	c.58920G>A	NM_001267550.2	NP_001254479.2:p.(Arg19640=)	NC_000002.11:g.179458015C>T	(Likely) benign	2 labs	42fa49aaf2
2:179427880 TTN A>G	2	179427880	179427880	A	G	TTN	c.82979T>C	NM_001267550.2	NP_001254479.2:p.(Leu27660Pro)	NC_000002.11:g.179427880A>G	VUS	2 labs	4302e104ab
17:29663625 NF1 T>TA	17	29663625	29663636	T	TA	NF1	c.6085-17dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663636dup	(Likely) benign	2 labs	43252e460a
17:6329030 AIPL1 C>A	17	6329030	6329030	C	A	AIPL1	c.905G>T	NM_014336.5	NP_055151.3:p.(Arg302Leu)	NC_000017.10:g.6329030C>A	(Likely) benign	3 labs	431490c272
19:39013689 RYR1 G>A	19	39013689	39013689	G	A	RYR1	c.10281G>A	NM_000540.3	NP_000531.2:p.(Pro3427=)	NC_000019.9:g.39013689G>A	(Likely) benign	2 labs	43193b3f9d
10:94369247 KIF11 C>T	10	94369247	94369247	C	T	KIF11	c.679C>T	NM_004523.4	NP_004514.2:p.(Leu227=)	NC_000010.10:g.94369247C>T	(Likely) benign	2 labs	4319d69c29
8:144996462 PLEC G>A	8	144996462	144996462	G	A	PLEC	c.7938C>T	NM_201380.4	NP_958782.1:p.(Ile2646=)	NC_000008.10:g.144996462G>A	(Likely) benign	2 labs	4325a3c41e
21:46908340 COL18A1 C>T	21	46908340	46908340	C	T	COL18A1	c.3150C>T	NM_130444.3	NP_569711.2:p.(Pro1050=)	NC_000021.8:g.46908340C>T	(Likely) benign	2 labs	433f1b8d77
12:111352091 MYL2 C>T	12	111352091	111352091	C	T	MYL2	c.173G>A	NM_000432.4	NP_000423.2:p.(Arg58Gln)	NC_000012.11:g.111352091C>T	(Likely) pathogenic	2 labs	4329e3b0ac
16:72132856 DHX38 G>A	16	72132856	72132856	G	A	DHX38	c.795G>A	NM_014003.4	NP_054722.2:p.(Thr265=)	NC_000016.9:g.72132856G>A	(Likely) benign	2 labs	433095a06e
16:3778604 CREBBP G>A	16	3778604	3778604	G	A	CREBBP	c.6444C>T	NM_004380.3	NP_004371.2:p.(Gly2148=)	NC_000016.9:g.3778604G>A	(Likely) benign	2 labs	4334f3519a
2:189849470 COL3A1 C>T	2	189849470	189849470	C	T	COL3A1	c.80-16C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189849470C>T	(Likely) benign	2 labs	4342b54478
11:108224471 ATM T>G	11	108224471	108224471	T	G	ATM	c.8672-22T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224471T>G	(Likely) benign	2 labs	4346c978bf
1:161276667 MPZ C>T	1	161276667	161276667	C	T	MPZ	c.279G>A	NM_000530.8	NP_000521.2:p.(Gly93=)	NC_000001.10:g.161276667C>T	(Likely) benign	2 labs	4349064e71
4:100532290 MTTP T>C	4	100532290	100532290	T	C	MTTP	c.1770-10T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532290T>C	(Likely) benign	2 labs	434fde1bf9
3:184045799 EIF4G1 A>G	3	184045799	184045799	A	G	EIF4G1	c.3956+9A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184045799A>G	(Likely) benign	3 labs	435d57ceb8
2:234229395 SAG G>A	2	234229395	234229395	G	A	SAG	c.301G>A	NM_000541.5	NP_000532.2:p.(Ala101Thr)	NC_000002.11:g.234229395G>A	(Likely) benign	2 labs	436682f320
19:49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT>C	19	49686028	49686065	CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT	C	TRPM4	c.1459_1494del	NM_017636.4	NP_060106.2:p.(Lys487_Leu498del)	NC_000019.9:g.49686030_49686065del	(Likely) benign	4 labs	4367b0e814
6:32548522 HLA-DRB1 C>G	6	32548522	32548522	C	G	HLA-DRB1	c.763+1G>C	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32548522C>G	(Likely) benign	2 labs	436887b088
2:179455423 TTN A>G	2	179455423	179455423	A	G	TTN	c.61029T>C	NM_001267550.2	NP_001254479.2:p.(Phe20343=)	NC_000002.11:g.179455423A>G	(Likely) benign	3 labs	436af715b4
1:3160720 PRDM16 C>T	1	3160720	3160720	C	T	PRDM16	c.438+19C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3160720C>T	(Likely) benign	2 labs	4371d33ea5
11:108114684 ATM G>T	11	108114684	108114684	G	T	ATM	c.501G>T	NM_000051.4	NP_000042.3:p.(Leu167Phe)	NC_000011.9:g.108114684G>T	VUS	2 labs	437d421e96
4:39226631 WDR19 G>C	4	39226631	39226631	G	C	WDR19	c.1607G>C	NM_025132.4	NP_079408.3:p.(Ser536Thr)	NC_000004.11:g.39226631G>C	(Likely) benign	2 labs	437ff97400
16:23637587 PALB2 C>T	16	23637587	23637587	C	T	PALB2	c.2718G>A	NM_024675.4	NP_078951.2:p.(Trp906Ter)	NC_000016.9:g.23637587C>T	(Likely) pathogenic	3 labs	438162f32d
2:44104954 ABCG8 G>A	2	44104954	44104954	G	A	ABCG8	c.1924G>A	NM_022437.3	NP_071882.1:p.(Ala642Thr)	NC_000002.11:g.44104954G>A	(Likely) benign	2 labs	43970fc6e2
6:123714764 TRDN C>T	6	123714764	123714764	C	T	TRDN	c.1105+5G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123714764C>T	(Likely) benign	3 labs	4397714964
5:77335063 AP3B1 G>A	5	77335063	77335063	G	A	AP3B1	c.2466C>T	NM_001271769.2	NP_001258698.1:p.(His822=)	NC_000005.9:g.77335063G>A	(Likely) benign	3 labs	43983046f2
13:32937429 BRCA2 G>A	13	32937429	32937429	G	A	BRCA2	c.8090G>A	NM_000059.4	NP_000050.3:p.(Ser2697Asn)	NC_000013.10:g.32937429G>A	(Likely) benign	4 labs	43a2d0d351
15:73614996 HCN4 G>A	15	73614996	73614996	G	A	HCN4	c.3438C>T	NM_005477.3	NP_005468.1:p.(Pro1146=)	NC_000015.9:g.73614996G>A	(Likely) benign	2 labs	43a56ec1fb
11:57373548 SERPING1 C>T	11	57373548	57373548	C	T	SERPING1	c.751C>T	NM_000062.3	NP_000053.2:p.(Leu251=)	NC_000011.9:g.57373548C>T	(Likely) benign	4 labs	43a7e9ef9b
19:45868291 ERCC2 T>G	19	45868291	45868291	T	G	ERCC2	c.477+9A>C	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45868291T>G	(Likely) benign	2 labs	43ad79f740
17:41244577 BRCA1 T>C	17	41244577	41244577	T	C	BRCA1	c.2971A>G	NM_007294.4	NP_009225.1:p.(Lys991Glu)	NC_000017.10:g.41244577T>C	(Likely) benign	2 labs	43b7902bf2
2:179404525 TTN G>A	2	179404525	179404525	G	A	TTN	c.98267C>T	NM_001267550.2	NP_001254479.2:p.(Thr32756Ile)	NC_000002.11:g.179404525G>A	(Likely) benign	3 labs	43ba6a3256
9:137707472 COL5A1 C>T	9	137707472	137707472	C	T	COL5A1	c.4065C>T	NM_000093.5	NP_000084.3:p.(Pro1355=)	NC_000009.11:g.137707472C>T	(Likely) benign	2 labs	43ba73944c
11:108106565 ATM T>C	11	108106565	108106565	T	C	ATM	c.496+4T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108106565T>C	(Likely) benign	3 labs	43c95360cb
12:2760928 CACNA1C C>T	12	2760928	2760928	C	T	CACNA1C	c.4212C>T	NM_199460.4	NP_955630.3:p.(Ser1404=)	NC_000012.11:g.2760928C>T	(Likely) benign	2 labs	43d1303fbc
7:91670132 AKAP9 A>G	7	91670132	91670132	A	G	AKAP9	c.4837A>G	NM_005751.5	NP_005742.4:p.(Met1613Val)	NC_000007.13:g.91670132A>G	VUS	2 labs	43d2cfe6f7
16:70304215 AARS1 G>A	16	70304215	70304215	G	A	AARS1	c.700C>T	NM_001605.3	NP_001596.2:p.(Pro234Ser)	NC_000016.9:g.70304215G>A	(Likely) benign	3 labs	43dba4ebce
9:101908841 TGFBR1 A>G	9	101908841	101908841	A	G	TGFBR1	c.1205A>G	NM_004612.4	NP_004603.1:p.(Tyr402Cys)	NC_000009.11:g.101908841A>G	VUS	3 labs	43dc081a5d
2:96963419 SNRNP200 T>C	2	96963419	96963419	T	C	SNRNP200	c.1159A>G	NM_014014.5	NP_054733.2:p.(Met387Val)	NC_000002.11:g.96963419T>C	(Likely) benign	2 labs	43e4faef90
12:48372065 COL2A1 C>T	12	48372065	48372065	C	T	COL2A1	c.3003+9G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48372065C>T	(Likely) benign	2 labs	43ecd7dd26
2:219679671 CYP27A1 C>T	2	219679671	219679671	C	T	CYP27A1	c.1514C>T	NM_000784.4	NP_000775.1:p.(Thr505Met)	NC_000002.11:g.219679671C>T	(Likely) benign	2 labs	43f5d0ba6e
15:45879733 BLOC1S6 A>G	15	45879733	45879733	A	G	BLOC1S6	c.82+10A>G	NM_012388.4	NP_036520.1:p.?	NC_000015.9:g.45879733A>G	(Likely) benign	2 labs	441983ca8e
X:118975168 UPF3B TTTTC>T	X	118975168	118975177	TTTTC	T	UPF3B	c.674_677del	NM_080632.3	NP_542199.1:p.(Arg225LysfsTer22)	NC_000023.10:g.118975174_118975177del	(Likely) pathogenic	3 labs	44098d616c
16:23647356 PALB2 ATC>A	16	23647356	23647359	ATC	A	PALB2	c.509_510del	NM_024675.4	NP_078951.2:p.(Arg170IlefsTer14)	NC_000016.9:g.23647358_23647359del	(Likely) pathogenic	5 labs	440ca1cab1
17:41256904 BRCA1 CTGAAAAGCACAAA>C	17	41256904	41256920	CTGAAAAGCACAAA	C	BRCA1	c.269_281del	NM_007294.4	NP_009225.1:p.(Ile90SerfsTer25)	NC_000017.10:g.41256908_41256920del	(Likely) pathogenic	2 labs	4422423649
2:110920625 NPHP1 C>T	2	110920625	110920625	C	T	NPHP1	c.1024G>A	NM_207181.4	NP_997064.2:p.(Gly342Arg)	NC_000002.11:g.110920625C>T	(Likely) pathogenic	4 labs	444cbf8822
2:220494859 SLC4A3 T>C	2	220494859	220494859	T	C	SLC4A3	c.677T>C	NM_001326559.2	NP_001313488.2:p.(Leu226Pro)	NC_000002.11:g.220494859T>C	(Likely) benign	2 labs	444d74e15e
7:6017308 PMS2 G>T	7	6017308	6017308	G	T	PMS2	c.2356C>A	NM_000535.7	NP_000526.2:p.(Leu786Met)	NC_000007.13:g.6017308G>T	(Likely) benign	2 labs	44544d9af7
3:100951820 IMPG2 G>A	3	100951820	100951820	G	A	IMPG2	c.3038C>T	NM_016247.4	NP_057331.2:p.(Pro1013Leu)	NC_000003.11:g.100951820G>A	(Likely) benign	2 labs	4468f37e9a
11:6651633 DCHS1 G>A	11	6651633	6651633	G	A	DCHS1	c.4392C>T	NM_003737.4	NP_003728.1:p.(Asp1464=)	NC_000011.9:g.6651633G>A	(Likely) benign	2 labs	446b3bc8d7
1:237540615 RYR2 A>T	1	237540615	237540615	A	T	RYR2	c.464-8A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237540615A>T	(Likely) benign	2 labs	4470707ba1
11:94201045 MRE11 A>C	11	94201045	94201045	A	C	MRE11	c.1032T>G	NM_005591.4	NP_005582.1:p.(Leu344=)	NC_000011.9:g.94201045A>C	(Likely) benign	2 labs	4478c8e974
15:28202840 OCA2 G>A	15	28202840	28202840	G	A	OCA2	c.1678C>T	NM_000275.3	NP_000266.2:p.(Arg560Cys)	NC_000015.9:g.28202840G>A	VUS	2 labs	447d8a7e4a
16:3819294 CREBBP C>T	16	3819294	3819294	C	T	CREBBP	c.2941G>A	NM_004380.3	NP_004371.2:p.(Ala981Thr)	NC_000016.9:g.3819294C>T	(Likely) benign	5 labs	44840f9fb0
X:130412510 IGSF1 C>T	X	130412510	130412510	C	T	IGSF1	c.1981G>A	NM_001170961.2	NP_001164432.1:p.(Gly661Arg)	NC_000023.10:g.130412510C>T	(Likely) pathogenic	2 labs	4485f968c1
6:7581727 DSP G>C	6	7581727	7581727	G	C	DSP	c.5304G>C	NM_004415.4	NP_004406.2:p.(Gly1768=)	NC_000006.11:g.7581727G>C	(Likely) benign	2 labs	448e551f19
14:77493760 IRF2BPL G>A	14	77493760	77493760	G	A	IRF2BPL	c.376C>T	NM_024496.4	NP_078772.1:p.(Gln126Ter)	NC_000014.8:g.77493760G>A	(Likely) pathogenic	2 labs	448efaf323
1:116268178 CASQ2 GAAAAAAAA>G	1	116268178	116268201	GAAAAAAAA	G	CASQ2	c.738-12_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268194_116268201del	(Likely) benign	2 labs	4497fd06dc
2:179489421 TTN C>G	2	179489421	179489421	C	G	TTN	c.44586G>C	NM_001267550.2	NP_001254479.2:p.(Gln14862His)	NC_000002.11:g.179489421C>G	VUS	2 labs	449f46caab
19:45412056 APOE G>A	19	45412056	45412056	G	A	APOE	c.581G>A	NM_001302688.2	NP_001289617.1:p.(Arg194His)	NC_000019.9:g.45412056G>A	VUS	2 labs	44ad89b66f
20:61467586 COL9A3 C>T	20	61467586	61467586	C	T	COL9A3	c.1449C>T	NM_001853.4	NP_001844.3:p.(Asn483=)	NC_000020.10:g.61467586C>T	(Likely) benign	2 labs	44b50c3b36
12:1003804 WNK1 A>G	12	1003804	1003804	A	G	WNK1	c.6363+3A>G	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.1003804A>G	(Likely) benign	2 labs	44ba8177c2
21:46924383 COL18A1 C>T	21	46924383	46924383	C	T	COL18A1	c.4026C>T	NM_130444.3	NP_569711.2:p.(Pro1342=)	NC_000021.8:g.46924383C>T	(Likely) benign	2 labs	44c092a89f
X:100653456 GLA G>A	X	100653456	100653456	G	A	GLA	c.901C>T	NM_000169.3	NP_000160.1:p.(Arg301Ter)	NC_000023.10:g.100653456G>A	(Likely) pathogenic	2 labs	44c17c0e6c
21:27254091 APP CAA>C	21	27254091	27254093	CAA	C	APP	c.2212-11_2212-10del	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27254092_27254093del	(Likely) benign	3 labs	44c1d74f34
17:40475650 STAT3 G>GA	17	40475650	40475653	G	GA	STAT3	c.1601-8dup	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40475653dup	(Likely) benign	2 labs	44c2c358a4
3:9034594 SRGAP3 C>T	3	9034594	9034594	C	T	SRGAP3	c.2554G>A	NM_014850.4	NP_055665.1:p.(Gly852Ser)	NC_000003.11:g.9034594C>T	VUS	3 labs	44d890b360
3:38924811 SCN11A G>C	3	38924811	38924811	G	C	SCN11A	c.3132C>G	NM_014139.3	NP_054858.2:p.(Asn1044Lys)	NC_000003.11:g.38924811G>C	(Likely) benign	2 labs	44df7aa156
5:179260601 SQSTM1 G>A	5	179260601	179260601	G	A	SQSTM1	c.984G>A	NM_003900.5	NP_003891.1:p.(Ser328=)	NC_000005.9:g.179260601G>A	(Likely) benign	3 labs	44f300657f
8:145738581 RECQL4 TG>T	8	145738581	145738593	TG	T	RECQL4	c.2463+19del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738593del	(Likely) benign	2 labs	450481bb4f
3:38592369 SCN5A G>C	3	38592369	38592369	G	C	SCN5A	c.5494C>G	NM_198056.3	NP_932173.1:p.(Gln1832Glu)	NC_000003.11:g.38592369G>C	VUS	3 labs	451af1f6a1
11:17436191 ABCC8 A>G	11	17436191	17436191	A	G	ABCC8	c.2295-34T>C	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17436191A>G	(Likely) benign	2 labs	451e707685
3:43607224 ANO10 C>A	3	43607224	43607224	C	A	ANO10	c.1219-5G>T	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607224C>A	(Likely) benign	2 labs	4523f1903b
1:40775926 COL9A2 A>G	1	40775926	40775926	A	G	COL9A2	c.738+10T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40775926A>G	(Likely) benign	2 labs	4532ae7d1c
2:1507754 TPO CT>C	2	1507754	1507755	CT	C	TPO	c.2422del	NM_000547.6	NP_000538.3:p.(Cys808AlafsTer24)	NC_000002.11:g.1507755del	(Likely) pathogenic	2 labs	453a92d9f7
2:179424719 TTN C>T	2	179424719	179424719	C	T	TTN	c.86140G>A	NM_001267550.2	NP_001254479.2:p.(Gly28714Arg)	NC_000002.11:g.179424719C>T	VUS	2 labs	454471bf75
16:2134208 TSC2 C>T	16	2134208	2134208	C	T	TSC2	c.4006-21C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134208C>T	(Likely) benign	2 labs	45568322f6
1:236902672 ACTN2 T>C	1	236902672	236902672	T	C	ACTN2	c.323T>C	NM_001278344.2	NP_001265273.1:p.(Met108Thr)	NC_000001.10:g.236902672T>C	(Likely) benign	2 labs	45680e6cdb
10:13336521 PHYH C>T	10	13336521	13336521	C	T	PHYH	c.21G>A	NM_001037537.2	NP_001032626.1:p.(Ser7=)	NC_000010.10:g.13336521C>T	(Likely) benign	3 labs	4566909cdc
12:2714835 CACNA1C C>T	12	2714835	2714835	C	T	CACNA1C	c.3109-10C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2714835C>T	(Likely) benign	2 labs	456ff21828
2:179584366 TTN G>T	2	179584366	179584366	G	T	TTN	c.23853C>A	NM_001267550.2	NP_001254479.2:p.(Ala7951=)	NC_000002.11:g.179584366G>T	(Likely) benign	4 labs	4571389650
11:108150275 ATM G>A	11	108150275	108150275	G	A	ATM	c.3342G>A	NM_000051.4	NP_000042.3:p.(Lys1114=)	NC_000011.9:g.108150275G>A	(Likely) benign	4 labs	45717fc635
14:23855705 MYH6 T>A	14	23855705	23855705	T	A	MYH6	c.4778A>T	NM_002471.4	NP_002462.2:p.(Gln1593Leu)	NC_000014.8:g.23855705T>A	(Likely) benign	4 labs	4571828bf7
11:108151830 ATM C>T	11	108151830	108151830	C	T	ATM	c.3511C>T	NM_000051.4	NP_000042.3:p.(Gln1171Ter)	NC_000011.9:g.108151830C>T	(Likely) pathogenic	2 labs	45736aabce
7:91700267 AKAP9 T>C	7	91700267	91700267	T	C	AKAP9	c.6556T>C	NM_005751.5	NP_005742.4:p.(Ser2186Pro)	NC_000007.13:g.91700267T>C	(Likely) benign	3 labs	457d7dc85c
16:1570294 IFT140 G>A	16	1570294	1570294	G	A	IFT140	c.3711C>T	NM_014714.4	NP_055529.2:p.(Phe1237=)	NC_000016.9:g.1570294G>A	(Likely) benign	2 labs	458341ddb2
6:42141500 GUCA1A C>T	6	42141500	42141500	C	T	GUCA1A	c.149C>T	NM_001384910.1	NP_001371839.1:p.(Pro50Leu)	NC_000006.11:g.42141500C>T	(Likely) benign	2 labs	45907e0587
5:149457678 CSF1R G>A	5	149457678	149457678	G	A	CSF1R	c.726C>T	NM_001375320.1	NP_001362249.1:p.(Thr242=)	NC_000005.9:g.149457678G>A	(Likely) benign	2 labs	4590bebc77
1:17313654 ATP13A2 C>T	1	17313654	17313654	C	T	ATP13A2	c.2955G>A	NM_001141973.3	NP_001135445.1:p.(Val985=)	NC_000001.10:g.17313654C>T	(Likely) benign	3 labs	45912f5b91
1:17313021 ATP13A2 G>A	1	17313021	17313021	G	A	ATP13A2	c.3327C>T	NM_001141973.3	NP_001135445.1:p.(Thr1109=)	NC_000001.10:g.17313021G>A	(Likely) benign	2 labs	4593de3760
12:110013940 MVK A>G	12	110013940	110013940	A	G	MVK	c.216A>G	NM_000431.4	NP_000422.1:p.(Thr72=)	NC_000012.11:g.110013940A>G	(Likely) benign	2 labs	4596194ea2
16:72132832 DHX38 G>A	16	72132832	72132832	G	A	DHX38	c.771G>A	NM_014003.4	NP_054722.2:p.(Val257=)	NC_000016.9:g.72132832G>A	(Likely) benign	2 labs	4596b07041
20:62659078 PRPF6 C>T	20	62659078	62659078	C	T	PRPF6	c.2328C>T	NM_012469.4	NP_036601.2:p.(Asn776=)	NC_000020.10:g.62659078C>T	(Likely) benign	2 labs	459e5f6ef3
8:144995169 PLEC G>C	8	144995169	144995169	G	C	PLEC	c.9231C>G	NM_201380.4	NP_958782.1:p.(Asp3077Glu)	NC_000008.10:g.144995169G>C	(Likely) benign	2 labs	45a6d169a9
11:108181043 ATM G>T	11	108181043	108181043	G	T	ATM	c.5918+1G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108181043G>T	(Likely) pathogenic	2 labs	45b181a83c
2:179596174 TTN G>A	2	179596174	179596174	G	A	TTN	c.17319C>T	NM_001267550.2	NP_001254479.2:p.(Asp5773=)	NC_000002.11:g.179596174G>A	(Likely) benign	2 labs	45ba5ff5cc
3:78766544 ROBO1 C>T	3	78766544	78766544	C	T	ROBO1	c.681G>A	NM_133631.4	NP_598334.2:p.(Lys227=)	NC_000003.11:g.78766544C>T	(Likely) benign	2 labs	45d3217a38
6:129371186 LAMA2 G>A	6	129371186	129371186	G	A	LAMA2	c.236G>A	NM_000426.4	NP_000417.3:p.(Arg79Lys)	NC_000006.11:g.129371186G>A	VUS	2 labs	45e32bf17a
2:179654102 TTN T>C	2	179654102	179654102	T	C	TTN	c.2061A>G	NM_001267550.2	NP_001254479.2:p.(Gln687=)	NC_000002.11:g.179654102T>C	(Likely) benign	3 labs	45eede29ff
15:35085437 ACTC1 C>T	15	35085437	35085437	C	T	ACTC1	c.454+9G>A	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35085437C>T	(Likely) benign	2 labs	45f6b77d05
8:43014192 HGSNAT G>A	8	43014192	43014192	G	A	HGSNAT	c.493+5G>A	NM_001363227.2	NP_001350156.1:p.?	NC_000008.10:g.43014192G>A	(Likely) pathogenic	2 labs	45f870f163
14:23857124 MYH6 G>A	14	23857124	23857124	G	A	MYH6	c.4368C>T	NM_002471.4	NP_002462.2:p.(Ala1456=)	NC_000014.8:g.23857124G>A	(Likely) benign	2 labs	45fd836252
2:179600239 TTN T>A	2	179600239	179600239	T	A	TTN	c.14934A>T	NM_001267550.2	NP_001254479.2:p.(Arg4978Ser)	NC_000002.11:g.179600239T>A	VUS	2 labs	45fea2f95a
2:48026286 MSH6 C>T	2	48026286	48026286	C	T	MSH6	c.1164C>T	NM_000179.3	NP_000170.1:p.(His388=)	NC_000002.11:g.48026286C>T	(Likely) benign	3 labs	460185883b
11:2466553 KCNQ1 T>C	11	2466553	2466553	T	C	KCNQ1	c.225T>C	NM_000218.3	NP_000209.2:p.(Val75=)	NC_000011.9:g.2466553T>C	(Likely) benign	2 labs	460c9187f7
8:100205221 VPS13B T>C	8	100205221	100205221	T	C	VPS13B	c.2451T>C	NM_017890.5	NP_060360.3:p.(His817=)	NC_000008.10:g.100205221T>C	(Likely) benign	3 labs	4619ddfef1
3:53757924 CACNA1D G>A	3	53757924	53757924	G	A	CACNA1D	c.2058G>A	NM_000720.4	NP_000711.1:p.(Leu686=)	NC_000003.11:g.53757924G>A	(Likely) benign	3 labs	461affb3ec
12:7521563 CD163L1 T>TGAGA	12	7521563	7521587	T	TGAGA	CD163L1	c.4070-6_4070-3dup	NM_001297650.2	NP_001284579.2:p.?	NC_000012.11:g.7521584_7521587dup	(Likely) benign	2 labs	461e3d368e
20:10629721 JAG1 G>A	20	10629721	10629721	G	A	JAG1	c.1383C>T	NM_000214.3	NP_000205.1:p.(Asp461=)	NC_000020.10:g.10629721G>A	(Likely) benign	2 labs	462b83810b
2:179534980 TTN C>T	2	179534980	179534980	C	T	TTN	c.35351G>A	NM_001267550.2	NP_001254479.2:p.(Arg11784His)	NC_000002.11:g.179534980C>T	VUS	3 labs	462da81292
18:19379791 MIB1 A>T	18	19379791	19379791	A	T	MIB1	c.1238-11A>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19379791A>T	(Likely) benign	2 labs	4633c07780
15:23892505 MAGEL2 T>C	15	23892505	23892505	T	C	MAGEL2	c.385A>G	NM_019066.5	NP_061939.3:p.(Met129Val)	NC_000015.9:g.23892505T>C	(Likely) benign	2 labs	4635d55c78
22:50656534 TUBGCP6 C>T	22	50656534	50656534	C	T	TUBGCP6	c.5181G>A	NM_020461.4	NP_065194.3:p.(Thr1727=)	NC_000022.10:g.50656534C>T	(Likely) benign	2 labs	4636d763bd
16:78149000 WWOX C>T	16	78149000	78149000	C	T	WWOX	c.358C>T	NM_016373.4	NP_057457.1:p.(Arg120Trp)	NC_000016.9:g.78149000C>T	(Likely) benign	2 labs	463a0aa52a
5:73148481 ARHGEF28 G>A	5	73148481	73148481	G	A	ARHGEF28	c.1754G>A	NM_001080479.3	NP_001073948.2:p.(Arg585Lys)	NC_000005.9:g.73148481G>A	(Likely) benign	2 labs	4641718db5
17:41246411 BRCA1 A>C	17	41246411	41246411	A	C	BRCA1	c.1137T>G	NM_007294.4	NP_009225.1:p.(Ile379Met)	NC_000017.10:g.41246411A>C	(Likely) benign	4 labs	46557504e1
8:145739817 RECQL4 G>A	8	145739817	145739817	G	A	RECQL4	c.1704+9C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145739817G>A	(Likely) benign	3 labs	465b29ad91
16:15808945 MYH11 C>T	16	15808945	15808945	C	T	MYH11	c.5635-7G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15808945C>T	(Likely) benign	4 labs	46606176c2
16:57484957 COQ9 C>G	16	57484957	57484957	C	G	COQ9	c.79C>G	NM_020312.4	NP_064708.1:p.(Arg27Gly)	NC_000016.9:g.57484957C>G	(Likely) benign	2 labs	4661fdea12
6:112496595 LAMA4 A>G	6	112496595	112496595	A	G	LAMA4	c.1277T>C	NM_001105206.3	NP_001098676.2:p.(Met426Thr)	NC_000006.11:g.112496595A>G	VUS	3 labs	4667215d9e
12:32949030 PKP2 C>CG	12	32949030	32949031	C	CG	PKP2	c.2489+12_2489+13insC	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949030_32949031insG	(Likely) benign	2 labs	4668c7f7c0
10:55582674 PCDH15 C>A	10	55582674	55582674	C	A	PCDH15	c.4812G>T	NM_033056.4	NP_149045.3:p.(Arg1604Ser)	NC_000010.10:g.55582674C>A	(Likely) benign	2 labs	4669b68ffb
13:32911375 BRCA2 G>A	13	32911375	32911375	G	A	BRCA2	c.2883G>A	NM_000059.4	NP_000050.3:p.(Gln961=)	NC_000013.10:g.32911375G>A	(Likely) benign	7 labs	468edb4a5c
13:32969079 BRCA2 A>C	13	32969079	32969079	A	C	BRCA2	c.9501+9A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32969079A>C	(Likely) benign	2 labs	46825e9d4e
16:89354918 ANKRD11 G>C	16	89354918	89354918	G	C	ANKRD11	c.744+18C>G	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89354918G>C	(Likely) benign	2 labs	469455c980
2:179462796 TTN A>G	2	179462796	179462796	A	G	TTN	c.57112-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179462796A>G	(Likely) benign	2 labs	469812e3da
10:13325839 PHYH C>A	10	13325839	13325839	C	A	PHYH	c.379G>T	NM_001323080.2	NP_001310009.1:p.(Gly127Trp)	NC_000010.10:g.13325839C>A	VUS	2 labs	469c068dd6
2:238280358 COL6A3 C>T	2	238280358	238280358	C	T	COL6A3	c.3684G>A	NM_057165.5	NP_476506.3:p.(Ser1228=)	NC_000002.11:g.238280358C>T	(Likely) benign	2 labs	46a2063d55
9:79835312 VPS13A A>AT	9	79835312	79835327	A	AT	VPS13A	c.989+28dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79835327dup	(Likely) benign	2 labs	46a4a52218
2:1648381 PXDN C>T	2	1648381	1648381	C	T	PXDN	c.3743+9G>A	NM_012293.3	NP_036425.1:p.?	NC_000002.11:g.1648381C>T	(Likely) benign	2 labs	46adea9214
X:153588164 FLNA C>T	X	153588164	153588164	C	T	FLNA	c.3915G>A	NM_001110556.2	NP_001104026.1:p.(Thr1305=)	NC_000023.10:g.153588164C>T	(Likely) benign	3 labs	46c3d712da
16:77353929 ADAMTS18 C>T	16	77353929	77353929	C	T	ADAMTS18	c.2349G>A	NM_199355.4	NP_955387.1:p.(Gln783=)	NC_000016.9:g.77353929C>T	(Likely) benign	2 labs	46e8f53b9e
5:127641615 FBN2 T>C	5	127641615	127641615	T	C	FBN2	c.5448A>G	NM_001999.4	NP_001990.2:p.(Pro1816=)	NC_000005.9:g.127641615T>C	(Likely) benign	3 labs	46e9f18510
13:32903685 BRCA2 C>T	13	32903685	32903685	C	T	BRCA2	c.681+56C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32903685C>T	(Likely) benign	3 labs	46eb1bf514
8:100133508 VPS13B A>G	8	100133508	100133508	A	G	VPS13B	c.1041A>G	NM_017890.5	NP_060360.3:p.(Ser347=)	NC_000008.10:g.100133508A>G	(Likely) benign	2 labs	471c43ec3b
2:179396859 TTN T>C	2	179396859	179396859	T	C	TTN	c.104483A>G	NM_001267550.2	NP_001254479.2:p.(Glu34828Gly)	NC_000002.11:g.179396859T>C	VUS	3 labs	472668f40d
3:38830536 SCN10A C>T	3	38830536	38830536	C	T	SCN10A	c.390-9G>A	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38830536C>T	(Likely) benign	2 labs	472c02171b
5:178772259 ADAMTS2 GGCA>G	5	178772259	178772285	GGCA	G	ADAMTS2	c.68_70del	NM_014244.5	NP_055059.2:p.(Leu23del)	NC_000005.9:g.178772283_178772285del	(Likely) benign	2 labs	472d1761de
7:81695842 CACNA2D1 TA>T	7	81695842	81695858	TA	T	CACNA2D1	c.659-3del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695858del	(Likely) benign	2 labs	472d28f2c9
8:134146933 TG C>T	8	134146933	134146933	C	T	TG	c.8202C>T	NM_003235.5	NP_003226.4:p.(Gly2734=)	NC_000008.10:g.134146933C>T	(Likely) benign	2 labs	47346ef152
2:234237199 SAG G>A	2	234237199	234237199	G	A	SAG	c.588G>A	NM_000541.5	NP_000532.2:p.(Ala196=)	NC_000002.11:g.234237199G>A	(Likely) benign	2 labs	4738ce5e13
7:66459316 SBDS G>A	7	66459316	66459316	G	A	SBDS	c.141C>T	NM_016038.4	NP_057122.2:p.(Leu47=)	NC_000007.13:g.66459316G>A	(Likely) benign	3 labs	4746aa9fe1
22:29130584 CHEK2 AGAG>A	22	29130584	29130590	AGAG	A	CHEK2	c.123_125del	NM_007194.4	NP_009125.1:p.(Ser42del)	NC_000022.10:g.29130588_29130590del	VUS	2 labs	474c61c5b8
12:122248329 SETD1B A>G	12	122248329	122248329	A	G	SETD1B	c.1478A>G	NM_001353345.2	NP_001340274.1:p.(Glu493Gly)	NC_000012.11:g.122248329A>G	(Likely) benign	2 labs	474dfe0057
1:237794822 RYR2 T>C	1	237794822	237794822	T	C	RYR2	c.6536T>C	NM_001035.3	NP_001026.2:p.(Leu2179Pro)	NC_000001.10:g.237794822T>C	VUS	2 labs	475ae9fd15
1:3342307 PRDM16 C>T	1	3342307	3342307	C	T	PRDM16	c.3102C>T	NM_022114.4	NP_071397.3:p.(Asn1034=)	NC_000001.10:g.3342307C>T	(Likely) benign	5 labs	475c0e7980
4:100529984 MTTP G>A	4	100529984	100529984	G	A	MTTP	c.1619G>A	NM_000253.3	NP_000244.2:p.(Arg540His)	NC_000004.11:g.100529984G>A	(Likely) pathogenic	2 labs	475f818a32
1:215972336 USH2A C>T	1	215972336	215972336	C	T	USH2A	c.9871G>A	NM_206933.4	NP_996816.3:p.(Gly3291Ser)	NC_000001.10:g.215972336C>T	VUS	2 labs	476afb269d
2:189914122 COL5A2 G>A	2	189914122	189914122	G	A	COL5A2	c.3098C>T	NM_000393.5	NP_000384.2:p.(Pro1033Leu)	NC_000002.11:g.189914122G>A	(Likely) benign	2 labs	476fac1ad6
2:73675223 ALMS1 AAGTTCTC>AAGTTCTC	2	73675223	73675230	AAGTTCTC	AAGTTCTC	ALMS1	c.1577_1579del	NM_015120.4	NP_055935.4:p.(Pro526del)	NC_000002.11:g.73675223_73675230=	(Likely) benign	2 labs	477423df4d
1:40776752 COL9A2 C>A	1	40776752	40776752	C	A	COL9A2	c.630+13G>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40776752C>A	(Likely) benign	3 labs	47867d6ffa
7:128493082 FLNC G>A	7	128493082	128493082	G	A	FLNC	c.6205G>A	NM_001458.5	NP_001449.3:p.(Ala2069Thr)	NC_000007.13:g.128493082G>A	VUS	3 labs	4787ef6006
13:32929007 BRCA2 G>C	13	32929007	32929007	G	C	BRCA2	c.7017G>C	NM_000059.4	NP_000050.3:p.(Lys2339Asn)	NC_000013.10:g.32929007G>C	(Likely) benign	6 labs	479005021b
2:238296306 COL6A3 G>C	2	238296306	238296306	G	C	COL6A3	c.1231C>G	NM_004369.4	NP_004360.2:p.(Leu411Val)	NC_000002.11:g.238296306G>C	(Likely) benign	4 labs	4797732ebd
4:126329912 FAT4 T>C	4	126329912	126329912	T	C	FAT4	c.5883T>C	NM_001291303.3	NP_001278232.1:p.(Ser1961=)	NC_000004.11:g.126329912T>C	(Likely) benign	2 labs	4799e19f27
3:14170944 TMEM43 C>G	3	14170944	14170944	C	G	TMEM43	c.45C>G	NM_024334.3	NP_077310.1:p.(Val15=)	NC_000003.11:g.14170944C>G	(Likely) benign	2 labs	479ad7c131
1:237994795 RYR2 A>G	1	237994795	237994795	A	G	RYR2	c.14757-19A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237994795A>G	(Likely) benign	3 labs	479d1293d2
14:57942425 CCDC198 T>TA	14	57942425	57942441	T	TA	CCDC198	c.653-4dup	NM_001283056.2	NP_001269985.1:p.?	NC_000014.8:g.57942441dup	(Likely) benign	2 labs	47a3624298
10:75867082 VCL G>A	10	75867082	75867082	G	A	VCL	c.2529G>A	NM_003373.4	NP_003364.1:p.(Pro843=)	NC_000010.10:g.75867082G>A	(Likely) benign	2 labs	47a6e0fe83
18:58039090 MC4R G>A	18	58039090	58039090	G	A	MC4R	c.493C>T	NM_005912.3	NP_005903.2:p.(Arg165Trp)	NC_000018.9:g.58039090G>A	(Likely) pathogenic	2 labs	47a80bf64f
10:69281696 CTNNA3 G>A	10	69281696	69281696	G	A	CTNNA3	c.483C>T	NM_013266.4	NP_037398.2:p.(Leu161=)	NC_000010.10:g.69281696G>A	(Likely) benign	2 labs	47a8a0cf3d
9:135152439 SETX A>G	9	135152439	135152439	A	G	SETX	c.6935+8T>C	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135152439A>G	(Likely) benign	4 labs	47a9b63465
2:212576875 ERBB4 A>G	2	212576875	212576875	A	G	ERBB4	c.1024T>C	NM_005235.3	NP_005226.1:p.(Leu342=)	NC_000002.11:g.212576875A>G	(Likely) benign	3 labs	47b745385f
13:32910637 BRCA2 A>G	13	32910637	32910637	A	G	BRCA2	c.2145A>G	NM_000059.4	NP_000050.3:p.(Gly715=)	NC_000013.10:g.32910637A>G	(Likely) benign	3 labs	47c14264de
5:176675166 NSD1 AT>A	5	176675166	176675172	AT	A	NSD1	c.4498-10del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176675172del	(Likely) benign	3 labs	47c31b5d5d
12:110221524 TRPV4 C>T	12	110221524	110221524	C	T	TRPV4	c.2518G>A	NM_021625.5	NP_067638.3:p.(Glu840Lys)	NC_000012.11:g.110221524C>T	(Likely) benign	3 labs	47c65288b1
3:37088991 MLH1 T>A	3	37088991	37088991	T	A	MLH1	c.1732-19T>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37088991T>A	(Likely) benign	3 labs	47cb5dc9d0
8:31014939 WRN C>A	8	31014939	31014939	C	A	WRN	c.3875C>A	NM_000553.6	NP_000544.2:p.(Ser1292Tyr)	NC_000008.10:g.31014939C>A	(Likely) benign	3 labs	47d0339ea4
17:41245683 BRCA1 G>A	17	41245683	41245683	G	A	BRCA1	c.1865C>T	NM_007294.4	NP_009225.1:p.(Ala622Val)	NC_000017.10:g.41245683G>A	(Likely) benign	3 labs	47d1186bfe
16:75669880 KARS1 G>A	16	75669880	75669880	G	A	KARS1	c.683C>T	NM_001130089.2	NP_001123561.1:p.(Pro228Leu)	NC_000016.9:g.75669880G>A	(Likely) pathogenic	2 labs	47d4a27bcc
3:38616915 SCN5A G>A	3	38616915	38616915	G	A	SCN5A	c.3539C>T	NM_198056.3	NP_932173.1:p.(Ala1180Val)	NC_000003.11:g.38616915G>A	VUS	2 labs	47e86ae1a0
3:123427584 MYLK C>T	3	123427584	123427584	C	T	MYLK	c.2101G>A	NM_053025.4	NP_444253.3:p.(Ala701Thr)	NC_000003.11:g.123427584C>T	(Likely) benign	3 labs	47ed9db2d1
3:70008542 MITF G>A	3	70008542	70008542	G	A	MITF	c.1132G>A	NM_198159.3	NP_937802.1:p.(Ala378Thr)	NC_000003.11:g.70008542G>A	(Likely) benign	2 labs	47f59015a1
18:19433180 MIB1 G>C	18	19433180	19433180	G	C	MIB1	c.2665+1G>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19433180G>C	VUS	2 labs	47f7a0e31f
19:45412062 APOE C>A	19	45412062	45412062	C	A	APOE	c.587C>A	NM_001302688.2	NP_001289617.1:p.(Ala196Asp)	NC_000019.9:g.45412062C>A	(Likely) pathogenic	2 labs	4810d1255d
7:91632454 AKAP9 T>C	7	91632454	91632454	T	C	AKAP9	c.3223T>C	NM_005751.5	NP_005742.4:p.(Leu1075=)	NC_000007.13:g.91632454T>C	(Likely) benign	3 labs	4818bf42fd
1:66036441 LEPR A>G	1	66036441	66036441	A	G	LEPR	c.326A>G	NM_001003679.3	NP_001003679.1:p.(Lys109Arg)	NC_000001.10:g.66036441A>G	(Likely) benign	2 labs	4820917394
19:38948185 RYR1 C>T	19	38948185	38948185	C	T	RYR1	c.1840C>T	NM_000540.3	NP_000531.2:p.(Arg614Cys)	NC_000019.9:g.38948185C>T	(Likely) pathogenic	4 labs	4828444b20
6:112455720 LAMA4 G>A	6	112455720	112455720	G	A	LAMA4	c.3506C>T	NM_001105206.3	NP_001098676.2:p.(Pro1169Leu)	NC_000006.11:g.112455720G>A	VUS	4 labs	48341a238b
16:89576879 SPG7 G>GT	16	89576879	89576894	G	GT	SPG7	c.184-4dup	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89576894dup	(Likely) benign	2 labs	4846b33072
3:49699472 BSN C>T	3	49699472	49699472	C	T	BSN	c.10194C>T	NM_003458.4	NP_003449.2:p.(Val3398=)	NC_000003.11:g.49699472C>T	(Likely) benign	2 labs	486eed2779
2:179427455 TTN T>C	2	179427455	179427455	T	C	TTN	c.83404A>G	NM_001267550.2	NP_001254479.2:p.(Ile27802Val)	NC_000002.11:g.179427455T>C	VUS	2 labs	4875bbb53b
2:179418702 TTN G>A	2	179418702	179418702	G	A	TTN	c.84213C>T	NM_001256850.1	NP_001243779.1:p.(Asn28071=)	NC_000002.11:g.179418702G>A	(Likely) benign	3 labs	488167d517
2:27308020 EMILIN1 C>A	2	27308020	27308020	C	A	EMILIN1	c.2576-8C>A	NM_007046.4	NP_008977.1:p.?	NC_000002.11:g.27308020C>A	(Likely) benign	2 labs	487e48b2a9
10:102783716 PDZD7 G>A	10	102783716	102783716	G	A	PDZD7	c.336C>T	NM_001195263.2	NP_001182192.1:p.(Phe112=)	NC_000010.10:g.102783716G>A	(Likely) benign	2 labs	489226ab99
2:63815338 WDPCP G>T	2	63815338	63815338	G	T	WDPCP	c.68C>A	NM_015910.7	NP_056994.3:p.(Pro23Gln)	NC_000002.11:g.63815338G>T	(Likely) benign	3 labs	489977d448
9:137650150 COL5A1 T>G	9	137650150	137650150	T	G	COL5A1	c.1935+8T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137650150T>G	(Likely) benign	2 labs	489f2e2248
2:179598399 TTN C>T	2	179598399	179598399	C	T	TTN	c.15717G>A	NM_001267550.2	NP_001254479.2:p.(Thr5239=)	NC_000002.11:g.179598399C>T	(Likely) benign	5 labs	48adc13f83
10:27009268 PDSS1 A>G	10	27009268	27009268	A	G	PDSS1	c.589A>G	NM_014317.5	NP_055132.2:p.(Lys197Glu)	NC_000010.10:g.27009268A>G	(Likely) benign	3 labs	48a8fd0067
17:19241062 B9D1 C>G	17	19241062	19241062	C	G	B9D1	c.473-1G>C	NM_001321218.2	NP_001308147.1:p.?	NC_000017.10:g.19241062C>G	(Likely) benign	2 labs	48aa6e47d7
11:2549229 KCNQ1 C>T	11	2549229	2549229	C	T	KCNQ1	c.458C>T	NM_000218.3	NP_000209.2:p.(Thr153Met)	NC_000011.9:g.2549229C>T	VUS	2 labs	48bdb5d5eb
2:179479460 TTN C>T	2	179479460	179479460	C	T	TTN	c.48781G>A	NM_001267550.2	NP_001254479.2:p.(Asp16261Asn)	NC_000002.11:g.179479460C>T	VUS	2 labs	48cb4e4d69
9:131367308 SPTAN1 T>G	9	131367308	131367308	T	G	SPTAN1	c.3720-5T>G	NM_001363759.2	NP_001350688.1:p.?	NC_000009.11:g.131367308T>G	(Likely) benign	3 labs	48cbe29eec
1:45805880 MUTYH G>A	1	45805880	45805880	G	A	MUTYH	c.36+11C>T	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45805880G>A	(Likely) benign	4 labs	48d4b756b1
7:154379742 DPP6 G>T	7	154379742	154379742	G	T	DPP6	c.1010G>T	NM_001290253.2	NP_001277182.1:p.(Gly337Val)	NC_000007.13:g.154379742G>T	(Likely) benign	2 labs	48d5d8d06b
10:88466345 LDB3 C>T	10	88466345	88466345	C	T	LDB3	c.954C>T	NM_007078.3	NP_009009.1:p.(Pro318=)	NC_000010.10:g.88466345C>T	(Likely) benign	4 labs	48d7e61536
6:107780479 PDSS2 C>G	6	107780479	107780479	C	G	PDSS2	c.11G>C	NM_020381.4	NP_065114.3:p.(Arg4Pro)	NC_000006.11:g.107780479C>G	(Likely) benign	2 labs	48de8df6c5
21:46932082 COL18A1 C>T	21	46932082	46932082	C	T	COL18A1	c.4341-20C>T	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46932082C>T	(Likely) benign	2 labs	48df46bb00
11:47355117 MYBPC3 G>A	11	47355117	47355117	G	A	MYBPC3	c.3181C>T	NM_000256.3	NP_000247.2:p.(Gln1061Ter)	NC_000011.9:g.47355117G>A	(Likely) pathogenic	2 labs	48f9e6705b
9:133333936 ASS1 G>T	9	133333936	133333936	G	T	ASS1	c.323G>T	NM_000050.4	NP_000041.2:p.(Arg108Leu)	NC_000009.11:g.133333936G>T	(Likely) benign	3 labs	48fee46ef6
4:126370709 FAT4 C>T	4	126370709	126370709	C	T	FAT4	c.8544C>T	NM_001291303.3	NP_001278232.1:p.(Ser2848=)	NC_000004.11:g.126370709C>T	(Likely) benign	3 labs	4903223bc0
11:62383714 B3GAT3 TG>T	11	62383714	62383715	TG	T	B3GAT3	c.910-3del	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383715del	(Likely) benign	3 labs	49042e235e
10:88441337 LDB3 G>A	10	88441337	88441337	G	A	LDB3	c.466G>A	NM_001171610.2	NP_001165081.1:p.(Ala156Thr)	NC_000010.10:g.88441337G>A	(Likely) benign	5 labs	49130644bf
5:177036621 B4GALT7 C>T	5	177036621	177036621	C	T	B4GALT7	c.909C>T	NM_007255.3	NP_009186.1:p.(Gly303=)	NC_000005.9:g.177036621C>T	(Likely) benign	2 labs	4917a88603
2:179411379 TTN T>C	2	179411379	179411379	T	C	TTN	c.94776A>G	NM_001267550.2	NP_001254479.2:p.(Val31592=)	NC_000002.11:g.179411379T>C	(Likely) benign	2 labs	491f213d04
7:94035614 COL1A2 A>G	7	94035614	94035614	A	G	COL1A2	c.593A>G	NM_000089.4	NP_000080.2:p.(Lys198Arg)	NC_000007.13:g.94035614A>G	VUS	2 labs	4929ffe0d6
22:33198038 TIMP3 G>T	22	33198038	33198038	G	T	TIMP3	c.51G>T	NM_000362.5	NP_000353.1:p.(Gly17=)	NC_000022.10:g.33198038G>T	(Likely) benign	2 labs	492e572236
10:105819438 COL17A1 CT>C	10	105819438	105819440	CT	C	COL17A1	c.1179del	NM_000494.4	NP_000485.3:p.(Ala394LeufsTer9)	NC_000010.10:g.105819440del	(Likely) pathogenic	2 labs	493b385fc2
17:41243765 BRCA1 T>C	17	41243765	41243765	T	C	BRCA1	c.3783A>G	NM_007294.4	NP_009225.1:p.(Leu1261=)	NC_000017.10:g.41243765T>C	(Likely) benign	2 labs	4938a99bb0
8:42323380 SLC20A2 C>T	8	42323380	42323380	C	T	SLC20A2	c.345G>A	NM_001257180.2	NP_001244109.1:p.(Thr115=)	NC_000008.10:g.42323380C>T	(Likely) benign	2 labs	493bdfcfd2
3:38674699 SCN5A G>A	3	38674699	38674699	G	A	SCN5A	c.100C>T	NM_001099404.2	NP_001092874.1:p.(Arg34Cys)	NC_000003.11:g.38674699G>A	(Likely) benign	4 labs	493d10dc2a
1:12023655 PLOD1 C>T	1	12023655	12023655	C	T	PLOD1	c.1164C>T	NM_000302.4	NP_000293.2:p.(Thr388=)	NC_000001.10:g.12023655C>T	(Likely) benign	2 labs	494b91ed0a
18:29099821 DSG2 G>A	18	29099821	29099821	G	A	DSG2	c.137G>A	NM_001943.5	NP_001934.2:p.(Arg46Gln)	NC_000018.9:g.29099821G>A	(Likely) pathogenic	3 labs	49504bc49f
7:140534556 BRAF G>A	7	140534556	140534556	G	A	BRAF	c.357C>T	NM_004333.6	NP_004324.2:p.(Thr119=)	NC_000007.13:g.140534556G>A	(Likely) benign	2 labs	4964084b4f
16:49671893 ZNF423 C>T	16	49671893	49671893	C	T	ZNF423	c.1194G>A	NM_001379286.1	NP_001366215.1:p.(Pro398=)	NC_000016.9:g.49671893C>T	(Likely) benign	2 labs	4968f5b39c
X:64137746 ZC4H2 G>A	X	64137746	64137746	G	A	ZC4H2	c.523C>T	NM_001178032.3	NP_001171503.1:p.(Arg175Trp)	NC_000023.10:g.64137746G>A	(Likely) pathogenic	2 labs	497bb1484c
11:2604727 KCNQ1 C>T	11	2604727	2604727	C	T	KCNQ1	c.984C>T	NM_000218.3	NP_000209.2:p.(Ile328=)	NC_000011.9:g.2604727C>T	(Likely) benign	3 labs	498b336172
19:13409407 CACNA1A C>T	19	13409407	13409407	C	T	CACNA1A	c.3052G>A	NM_023035.3	NP_075461.2:p.(Glu1018Lys)	NC_000019.9:g.13409407C>T	(Likely) benign	5 labs	498bc96dd9
1:10363487 KIF1B T>C	1	10363487	10363487	T	C	KIF1B	c.2244T>C	NM_183416.4	NP_904325.2:p.(Ala748=)	NC_000001.10:g.10363487T>C	(Likely) benign	3 labs	498c875ee3
2:73826581 ALMS1 C>T	2	73826581	73826581	C	T	ALMS1	c.11604C>T	NM_015120.4	NP_055935.4:p.(Phe3868=)	NC_000002.11:g.73826581C>T	(Likely) benign	2 labs	49a49df10c
13:32905082 BRCA2 T>C	13	32905082	32905082	T	C	BRCA2	c.708T>C	NM_000059.4	NP_000050.3:p.(His236=)	NC_000013.10:g.32905082T>C	(Likely) benign	4 labs	49a5839cfd
18:60021667 TNFRSF11A C>T	18	60021667	60021667	C	T	TNFRSF11A	c.327C>T	NM_003839.4	NP_003830.1:p.(Pro109=)	NC_000018.9:g.60021667C>T	(Likely) benign	3 labs	49b1ce9b73
7:635777 PRKAR1B A>G	7	635777	635777	A	G	PRKAR1B	c.708+6T>C	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.635777A>G	(Likely) benign	2 labs	49b576a0d6
2:97464972 CNNM4 G>A	2	97464972	97464972	G	A	CNNM4	c.1851+9G>A	NM_020184.4	NP_064569.3:p.?	NC_000002.11:g.97464972G>A	(Likely) benign	2 labs	49bc5a1728
5:11385201 CTNND2 CGCG>C	5	11385201	11385220	CGCG	C	CTNND2	c.750_752del	NM_001332.4	NP_001323.1:p.(Ala251del)	NC_000005.9:g.11385218_11385220del	(Likely) benign	2 labs	49c8b39691
13:32912080 BRCA2 GA>G	13	32912080	32912085	GA	G	BRCA2	c.3593del	NM_000059.4	NP_000050.3:p.(Asn1198MetfsTer11)	NC_000013.10:g.32912085del	(Likely) pathogenic	3 labs	49c696db82
16:50745655 NOD2 C>T	16	50745655	50745655	C	T	NOD2	c.1833C>T	NM_022162.3	NP_071445.1:p.(Ala611=)	NC_000016.9:g.50745655C>T	(Likely) benign	4 labs	49d0c283a4
2:179636108 TTN T>C	2	179636108	179636108	T	C	TTN	c.7946A>G	NM_133378.4	NP_596869.4:p.(Lys2649Arg)	NC_000002.11:g.179636108T>C	VUS	2 labs	49d415ab84
5:131915763 RAD50 CT>C	5	131915763	131915765	CT	C	RAD50	c.756+7del	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131915765del	(Likely) benign	2 labs	49df5946f1
7:128495264 FLNC G>GTC	7	128495264	128495268	G	GTC	FLNC	c.7150_7151dup	NM_001458.5	NP_001449.3:p.(Ile2385ProfsTer40)	NC_000007.13:g.128495267_128495268dup	(Likely) pathogenic	2 labs	49e141db71
9:135772681 TSC1 G>A	9	135772681	135772681	G	A	TSC1	c.2865C>T	NM_000368.5	NP_000359.1:p.(Thr955=)	NC_000009.11:g.135772681G>A	(Likely) benign	3 labs	49e6287c5e
6:123760152 TRDN G>C	6	123760152	123760152	G	C	TRDN	c.932-4C>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123760152G>C	(Likely) benign	2 labs	49e644866c
9:108380355 FKTN C>A	9	108380355	108380355	C	A	FKTN	c.1026C>A	NM_001079802.2	NP_001073270.1:p.(Leu342=)	NC_000009.11:g.108380355C>A	(Likely) benign	4 labs	49f9668236
9:134384277 POMT1 T>C	9	134384277	134384277	T	C	POMT1	c.428-21T>C	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134384277T>C	(Likely) benign	2 labs	4a0353a700
9:135782214 TSC1 G>A	9	135782214	135782214	G	A	TSC1	c.1342C>T	NM_000368.5	NP_000359.1:p.(Pro448Ser)	NC_000009.11:g.135782214G>A	(Likely) benign	2 labs	4a03e42b21
2:196762491 DNAH7 T>TA	2	196762491	196762508	T	TA	DNAH7	c.4549-3dup	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196762508dup	(Likely) benign	2 labs	4a08e800c7
19:17737486 UNC13A G>A	19	17737486	17737486	G	A	UNC13A	c.4029C>T	NM_001080421.3	NP_001073890.2:p.(Asp1343=)	NC_000019.9:g.17737486G>A	(Likely) benign	2 labs	4a0cf01634
6:32057054 TNXB G>A	6	32057054	32057054	G	A	TNXB	c.2461C>T	NM_019105.8	NP_061978.6:p.(Arg821Ter)	NC_000006.11:g.32057054G>A	(Likely) pathogenic	2 labs	4a10f63f8d
7:82997128 SEMA3E C>A	7	82997128	82997128	C	A	SEMA3E	c.2102G>T	NM_012431.3	NP_036563.1:p.(Ser701Ile)	NC_000007.13:g.82997128C>A	(Likely) benign	3 labs	4a13bf46cd
18:3452222 TGIF1 CT>C	18	3452222	3452223	CT	C	TGIF1	c.-202del	NM_170695.5	NP_733796.3:p.?	NC_000018.9:g.3452223del	(Likely) benign	3 labs	4a208d162c
22:41075523 MCHR1 C>T	22	41075523	41075523	C	T	MCHR1	c.-134C>T	NM_005297.4	NP_005288.4:p.?	NC_000022.10:g.41075523C>T	(Likely) benign	2 labs	4a17e1afba
15:23891971 MAGEL2 G>A	15	23891971	23891971	G	A	MAGEL2	c.919C>T	NM_019066.5	NP_061939.3:p.(Pro307Ser)	NC_000015.9:g.23891971G>A	(Likely) benign	3 labs	4a1893c1a7
16:88504205 ZNF469 G>C	16	88504205	88504205	G	C	ZNF469	c.10327G>C	NM_001367624.2	NP_001354553.1:p.(Gly3443Arg)	NC_000016.9:g.88504205G>C	(Likely) benign	2 labs	4a2a44e0cb
9:2718384 KCNV2 G>C	9	2718384	2718384	G	C	KCNV2	c.645G>C	NM_133497.4	NP_598004.1:p.(Lys215Asn)	NC_000009.11:g.2718384G>C	VUS	2 labs	4a2a51e617
1:120611960 NOTCH2 C>T	1	120611960	120611960	C	T	NOTCH2	c.61G>A	NM_024408.4	NP_077719.2:p.(Ala21Thr)	NC_000001.10:g.120611960C>T	(Likely) benign	2 labs	4a2d29cb8c
2:25536772 DNMT3A C>T	2	25536772	25536772	C	T	DNMT3A	c.72+10G>A	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25536772C>T	(Likely) benign	2 labs	4a2e446de4
1:161192845 APOA2 C>CCA	1	161192845	161192884	C	CCA	APOA2	c.53-7_53-6dup	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192883_161192884dup	(Likely) benign	4 labs	4a36f3dcbe
17:41228641 BRCA1 G>A	17	41228641	41228641	G	A	BRCA1	c.4358-10C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41228641G>A	(Likely) benign	5 labs	4a38db42e4
17:1580947 PRPF8 G>A	17	1580947	1580947	G	A	PRPF8	c.1896C>T	NM_006445.4	NP_006436.3:p.(Ala632=)	NC_000017.10:g.1580947G>A	(Likely) benign	2 labs	4a3a3da646
11:111897028 DLAT GT>G	11	111897028	111897045	GT	G	DLAT	c.381+22del	NM_001931.5	NP_001922.2:p.?	NC_000011.9:g.111897045del	(Likely) benign	3 labs	4a3a48b761
10:135180449 ECHS1 G>A	10	135180449	135180449	G	A	ECHS1	c.563C>T	NM_004092.4	NP_004083.3:p.(Ala188Val)	NC_000010.10:g.135180449G>A	VUS	2 labs	4a499c3055
6:56346985 DST T>TCA	6	56346985	56347000	T	TCA	DST	c.15046-11_15046-10dup	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56346999_56347000dup	(Likely) benign	2 labs	4a54e83b20
6:7586100 DSP A>G	6	7586100	7586100	A	G	DSP	c.8605A>G	NM_004415.4	NP_004406.2:p.(Ile2869Val)	NC_000006.11:g.7586100A>G	(Likely) benign	2 labs	4a577785c8
2:238253149 COL6A3 G>A	2	238253149	238253149	G	A	COL6A3	c.7512C>T	NM_004369.4	NP_004360.2:p.(Asn2504=)	NC_000002.11:g.238253149G>A	(Likely) benign	2 labs	4a5793f588
1:235964212 LYST T>C	1	235964212	235964212	T	C	LYST	c.3898A>G	NM_001301365.1	NP_001288294.1:p.(Ile1300Val)	NC_000001.10:g.235964212T>C	(Likely) benign	2 labs	4a5ce8f16c
5:52942174 NDUFS4 TG>T	5	52942174	52942176	TG	T	NDUFS4	c.291del	NM_002495.4	NP_002486.1:p.(Trp97Ter)	NC_000005.9:g.52942176del	(Likely) pathogenic	2 labs	4a7057064a
3:148920043 CP A>T	3	148920043	148920043	A	T	CP	c.1209-15T>A	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148920043A>T	(Likely) benign	2 labs	4a72e4f8b1
16:89347723 ANKRD11 G>A	16	89347723	89347723	G	A	ANKRD11	c.5227C>T	NM_013275.6	NP_037407.4:p.(Gln1743Ter)	NC_000016.9:g.89347723G>A	(Likely) pathogenic	2 labs	4a73c46375
16:68842306 CDH1 C>A	16	68842306	68842306	C	A	CDH1	c.388-21C>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842306C>A	(Likely) benign	2 labs	4a76fd281d
20:19970705 RIN2 C>T	20	19970705	19970705	C	T	RIN2	c.1965C>T	NM_001242581.2	NP_001229510.1:p.(His655=)	NC_000020.10:g.19970705C>T	(Likely) benign	2 labs	4a78123f91
11:121367571 SORL1 C>T	11	121367571	121367571	C	T	SORL1	c.759-7C>T	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121367571C>T	(Likely) benign	2 labs	4a7cb6db20
2:219679425 CYP27A1 G>A	2	219679425	219679425	G	A	CYP27A1	c.1421G>A	NM_000784.4	NP_000775.1:p.(Arg474Gln)	NC_000002.11:g.219679425G>A	(Likely) pathogenic	2 labs	4a7cfa9193
1:100681587 DBT A>G	1	100681587	100681587	A	G	DBT	c.724T>C	NM_001918.5	NP_001909.4:p.(Ser242Pro)	NC_000001.10:g.100681587A>G	(Likely) benign	2 labs	4a8008020d
19:35524607 SCN1B G>A	19	35524607	35524607	G	A	SCN1B	c.412G>A	NM_001037.5	NP_001028.1:p.(Val138Ile)	NC_000019.9:g.35524607G>A	(Likely) benign	4 labs	4a82cb2b26
3:14183188 TMEM43 G>A	3	14183188	14183188	G	A	TMEM43	c.1096G>A	NM_024334.3	NP_077310.1:p.(Ala366Thr)	NC_000003.11:g.14183188G>A	(Likely) benign	4 labs	4a83a30fab
3:69998328 MITF C>G	3	69998328	69998328	C	G	MITF	c.880+9C>G	NM_198159.3	NP_937802.1:p.?	NC_000003.11:g.69998328C>G	(Likely) benign	3 labs	4a84f11408
6:41126655 TREM2 A>G	6	41126655	41126655	A	G	TREM2	c.632T>C	NM_018965.4	NP_061838.1:p.(Leu211Pro)	NC_000006.11:g.41126655A>G	(Likely) benign	2 labs	4a957209ba
15:31197300 FAN1 G>A	15	31197300	31197300	G	A	FAN1	c.434G>A	NM_014967.5	NP_055782.3:p.(Arg145His)	NC_000015.9:g.31197300G>A	(Likely) benign	2 labs	4aa6ea7797
8:10468407 RP1L1 G>A	8	10468407	10468407	G	A	RP1L1	c.3201C>T	NM_178857.6	NP_849188.4:p.(Gly1067=)	NC_000008.10:g.10468407G>A	(Likely) benign	2 labs	4aa8908598
19:50139932 RRAS C>T	19	50139932	50139932	C	T	RRAS	c.397G>A	NM_006270.5	NP_006261.1:p.(Asp133Asn)	NC_000019.9:g.50139932C>T	(Likely) benign	2 labs	4aae565a56
12:2602423 CACNA1C C>T	12	2602423	2602423	C	T	CACNA1C	c.984C>T	NM_199460.4	NP_955630.3:p.(Asn328=)	NC_000012.11:g.2602423C>T	(Likely) benign	2 labs	4ab1d72173
17:44049329 MAPT C>T	17	44049329	44049329	C	T	MAPT	c.220+18C>T	NM_001123066.4	NP_001116538.2:p.?	NC_000017.10:g.44049329C>T	(Likely) benign	2 labs	4abbd05f31
4:110791087 LRIT3 A>G	4	110791087	110791087	A	G	LRIT3	c.1182A>G	NM_198506.5	NP_940908.3:p.(Thr394=)	NC_000004.11:g.110791087A>G	(Likely) benign	2 labs	4acb041267
14:23876272 MYH6 C>T	14	23876272	23876272	C	T	MYH6	c.161G>A	NM_002471.4	NP_002462.2:p.(Arg54Gln)	NC_000014.8:g.23876272C>T	VUS	3 labs	4ad25d9b05
3:184043285 EIF4G1 C>T	3	184043285	184043285	C	T	EIF4G1	c.2982C>T	NM_182917.4	NP_886553.3:p.(Arg994=)	NC_000003.11:g.184043285C>T	(Likely) benign	2 labs	4ae9186515
1:26393872 TRIM63 C>T	1	26393872	26393872	C	T	TRIM63	c.114G>A	NM_032588.4	NP_115977.2:p.(Pro38=)	NC_000001.10:g.26393872C>T	(Likely) benign	2 labs	4b0bcd4251
18:45375075 SMAD2 T>G	18	45375075	45375075	T	G	SMAD2	c.785-17A>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375075T>G	(Likely) benign	2 labs	4b0e70cd9b
11:68179098 LRP5 G>A	11	68179098	68179098	G	A	LRP5	c.2503+10G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68179098G>A	(Likely) benign	2 labs	4b106c959e
1:236918313 ACTN2 C>G	1	236918313	236918313	C	G	ACTN2	c.1351-6C>G	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236918313C>G	(Likely) benign	3 labs	4b12792dbf
17:29585351 NF1 CTTG>C	17	29585351	29585356	CTTG	C	NF1	c.4174-8_4174-6del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29585354_29585356del	(Likely) benign	2 labs	4b208e4a63
6:112430669 LAMA4 C>T	6	112430669	112430669	C	T	LAMA4	c.5443G>A	NM_001105206.3	NP_001098676.2:p.(Val1815Ile)	NC_000006.11:g.112430669C>T	(Likely) benign	3 labs	4b27123dab
9:3898730 GLIS3 C>T	9	3898730	3898730	C	T	GLIS3	c.2089G>A	NM_001042413.2	NP_001035878.1:p.(Val697Met)	NC_000009.11:g.3898730C>T	(Likely) benign	2 labs	4b28c52d7b
9:139390982 NOTCH1 C>T	9	139390982	139390982	C	T	NOTCH1	c.7209G>A	NM_017617.5	NP_060087.3:p.(Gln2403=)	NC_000009.11:g.139390982C>T	(Likely) benign	2 labs	4b2ade2982
1:241663902 FH T>TGAGAGA	1	241663902	241663940	T	TGAGAGA	FH	c.1237-18_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663935_241663940dup	(Likely) benign	2 labs	4b2e72617f
19:50747534 MYH14 G>T	19	50747534	50747534	G	T	MYH14	c.1150G>T	NM_001145809.2	NP_001139281.1:p.(Gly384Cys)	NC_000019.9:g.50747534G>T	(Likely) benign	2 labs	4b307c8a9a
5:148407893 SH3TC2 C>A	5	148407893	148407893	C	A	SH3TC2	c.1402G>T	NM_024577.4	NP_078853.2:p.(Ala468Ser)	NC_000005.9:g.148407893C>A	(Likely) benign	2 labs	4b32e0bbd5
17:56434876 RNF43 C>G	17	56434876	56434876	C	G	RNF43	c.2261G>C	NM_017763.6	NP_060233.3:p.(Gly754Ala)	NC_000017.10:g.56434876C>G	(Likely) benign	2 labs	4b424ab8cc
3:78711125 ROBO1 A>G	3	78711125	78711125	A	G	ROBO1	c.1980+18T>C	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78711125A>G	(Likely) benign	2 labs	4b45d679b6
19:50338784 MED25 C>T	19	50338784	50338784	C	T	MED25	c.1675-7C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50338784C>T	(Likely) benign	2 labs	4b4c90218f
12:9016573 A2ML1 A>G	12	9016573	9016573	A	G	A2ML1	c.3686A>G	NM_144670.6	NP_653271.3:p.(His1229Arg)	NC_000012.11:g.9016573A>G	(Likely) benign	2 labs	4b57d97544
11:19213987 CSRP3 G>C	11	19213987	19213987	G	C	CSRP3	c.9C>G	NM_003476.5	NP_003467.1:p.(Asn3Lys)	NC_000011.9:g.19213987G>C	VUS	2 labs	4b5592a7a2
1:6038476 NPHP4 AG>A	1	6038476	6038478	AG	A	NPHP4	c.136-4del	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6038478del	(Likely) benign	3 labs	4b5c7ef028
2:179622503 TTN CTGTCTCCCCGT>C	2	179622503	179622517	CTGTCTCCCCGT	C	TTN	c.10433_10443del	NM_001267550.2	NP_001254479.2:p.(Asn3478SerfsTer20)	NC_000002.11:g.179622507_179622517del	VUS	2 labs	4b61cfe9fd
16:11647433 LITAF G>A	16	11647433	11647433	G	A	LITAF	c.333C>T	NM_004862.4	NP_004853.2:p.(Ala111=)	NC_000016.9:g.11647433G>A	(Likely) benign	2 labs	4b66d692b0
1:12062205 MFN2 A>G	1	12062205	12062205	A	G	MFN2	c.1160+45A>G	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12062205A>G	(Likely) benign	2 labs	4b78544c6f
6:44278069 AARS2 G>T	6	44278069	44278069	G	T	AARS2	c.861C>A	NM_020745.4	NP_065796.2:p.(Asp287Glu)	NC_000006.11:g.44278069G>T	(Likely) benign	2 labs	4b79fe41c9
4:126372975 FAT4 A>C	4	126372975	126372975	A	C	FAT4	c.10810A>C	NM_001291303.3	NP_001278232.1:p.(Ile3604Leu)	NC_000004.11:g.126372975A>C	(Likely) benign	2 labs	4b7a85aacc
4:126411576 FAT4 G>A	4	126411576	126411576	G	A	FAT4	c.13605G>A	NM_001291303.3	NP_001278232.1:p.(Lys4535=)	NC_000004.11:g.126411576G>A	(Likely) benign	2 labs	4b7b863b79
6:152629617 SYNE1 C>T	6	152629617	152629617	C	T	SYNE1	c.17346+7G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629617C>T	(Likely) benign	3 labs	4b82a9fc10
5:138147939 CTNNA1 C>T	5	138147939	138147939	C	T	CTNNA1	c.536C>T	NM_001903.5	NP_001894.2:p.(Ala179Val)	NC_000005.9:g.138147939C>T	(Likely) benign	3 labs	4b83b408e6
1:5925348 NPHP4 G>A	1	5925348	5925348	G	A	NPHP4	c.3645-15C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5925348G>A	(Likely) benign	3 labs	4b9520f897
11:88911350 TYR C>T	11	88911350	88911350	C	T	TYR	c.229C>T	NM_000372.5	NP_000363.1:p.(Arg77Trp)	NC_000011.9:g.88911350C>T	(Likely) pathogenic	3 labs	4b975fec21
17:75478411 SEPTIN9 G>A	17	75478411	75478411	G	A	SEPTIN9	c.853G>A	NM_006640.5	NP_006631.2:p.(Val285Met)	NC_000017.10:g.75478411G>A	(Likely) benign	2 labs	4b97c07441
1:53676101 CPT2 A>G	1	53676101	53676101	A	G	CPT2	c.755A>G	NM_000098.3	NP_000089.1:p.(Tyr252Cys)	NC_000001.10:g.53676101A>G	VUS	2 labs	4b987dfc12
3:123368013 MYLK A>G	3	123368013	123368013	A	G	MYLK	c.4317T>C	NM_053025.4	NP_444253.3:p.(Asp1439=)	NC_000003.11:g.123368013A>G	(Likely) benign	3 labs	4ba2be45fe
12:2795382 CACNA1C G>C	12	2795382	2795382	G	C	CACNA1C	c.5731G>C	NM_001167623.2	NP_001161095.1:p.(Gly1911Arg)	NC_000012.11:g.2795382G>C	VUS	2 labs	4ba6d52838
2:238287313 COL6A3 A>G	2	238287313	238287313	A	G	COL6A3	c.2463T>C	NM_004369.4	NP_004360.2:p.(Ser821=)	NC_000002.11:g.238287313A>G	(Likely) benign	3 labs	4ba75471e6
5:140953563 DIAPH1 T>TGGA	5	140953563	140953597	T	TGGA	DIAPH1	c.1851_1853dup	NM_005219.5	NP_005210.3:p.(Pro620dup)	NC_000005.9:g.140953595_140953597dup	(Likely) benign	2 labs	4bb9e53d07
4:114254351 ANK2 C>T	4	114254351	114254351	C	T	ANK2	c.3366C>T	NM_001148.6	NP_001139.3:p.(Asn1122=)	NC_000004.11:g.114254351C>T	(Likely) benign	3 labs	4bbaf07fbf
1:33282806 YARS1 T>A	1	33282806	33282806	T	A	YARS1	c.40A>T	NM_003680.4	NP_003671.1:p.(Ile14Phe)	NC_000001.10:g.33282806T>A	VUS	2 labs	4bc61e3f98
12:133214619 POLE C>T	12	133214619	133214619	C	T	POLE	c.5659G>A	NM_006231.4	NP_006222.2:p.(Val1887Met)	NC_000012.11:g.133214619C>T	(Likely) benign	3 labs	4bc975cf5d
6:15524866 DTNBP1 G>A	6	15524866	15524866	G	A	DTNBP1	c.702C>T	NM_183040.2	NP_898861.1:p.(Asn234=)	NC_000006.11:g.15524866G>A	(Likely) benign	3 labs	4bc9a03bce
20:57599402 TUBB1 G>A	20	57599402	57599402	G	A	TUBB1	c.920G>A	NM_030773.4	NP_110400.1:p.(Arg307His)	NC_000020.10:g.57599402G>A	(Likely) benign	2 labs	4bd33320b2
2:166245960 SCN2A C>G	2	166245960	166245960	C	G	SCN2A	c.5644C>G	NM_021007.3	NP_066287.2:p.(Arg1882Gly)	NC_000002.11:g.166245960C>G	(Likely) pathogenic	2 labs	4bd428c970
17:41216021 BRCA1 G>A	17	41216021	41216021	G	A	BRCA1	c.5075-53C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41216021G>A	(Likely) benign	5 labs	4bd9a2e20a
22:29095838 CHEK2 G>A	22	29095838	29095838	G	A	CHEK2	c.996C>T	NM_007194.4	NP_009125.1:p.(Leu332=)	NC_000022.10:g.29095838G>A	(Likely) benign	3 labs	4bdb744e38
15:28447587 HERC2 C>T	15	28447587	28447587	C	T	HERC2	c.7386G>A	NM_004667.6	NP_004658.3:p.(Val2462=)	NC_000015.9:g.28447587C>T	(Likely) benign	2 labs	4be656a882
14:23888775 MYH7 T>C	14	23888775	23888775	T	C	MYH7	c.3770A>G	NM_000257.4	NP_000248.2:p.(Asn1257Ser)	NC_000014.8:g.23888775T>C	(Likely) benign	3 labs	4bf573f66a
19:11230842 LDLR C>T	19	11230842	11230842	C	T	LDLR	c.1920C>T	NM_000527.5	NP_000518.1:p.(Asn640=)	NC_000019.9:g.11230842C>T	(Likely) benign	2 labs	4bfaad1a8b
7:128490553 FLNC T>C	7	128490553	128490553	T	C	FLNC	c.5398+16T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490553T>C	(Likely) benign	2 labs	4c0ff2a282
3:129252445 RHO T>A	3	129252445	129252445	T	A	RHO	c.937-6T>A	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129252445T>A	VUS	2 labs	4c27b87afd
11:118365118 KMT2A A>G	11	118365118	118365118	A	G	KMT2A	c.5289+5A>G	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118365118A>G	(Likely) benign	2 labs	4c33b21acd
11:47365122 MYBPC3 G>A	11	47365122	47365122	G	A	MYBPC3	c.1144C>T	NM_000256.3	NP_000247.2:p.(Arg382Trp)	NC_000011.9:g.47365122G>A	(Likely) benign	3 labs	4c351e5056
9:139391543 NOTCH1 C>T	9	139391543	139391543	C	T	NOTCH1	c.6648G>A	NM_017617.5	NP_060087.3:p.(Pro2216=)	NC_000009.11:g.139391543C>T	(Likely) benign	2 labs	4c3781395d
12:88478636 CEP290 T>C	12	88478636	88478636	T	C	CEP290	c.4438-7A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88478636T>C	(Likely) benign	2 labs	4c49146486
10:112544139 RBM20 T>C	10	112544139	112544139	T	C	RBM20	c.1378T>C	NM_001134363.3	NP_001127835.2:p.(Leu460=)	NC_000010.10:g.112544139T>C	(Likely) benign	2 labs	4c56c04e67
9:135205006 SETX G>C	9	135205006	135205006	G	C	SETX	c.1979C>G	NM_015046.7	NP_055861.3:p.(Ala660Gly)	NC_000009.11:g.135205006G>C	(Likely) benign	4 labs	4c62e89c2d
22:29886043 NEFH A>C	22	29886043	29886043	A	C	NEFH	c.2414A>C	NM_021076.4	NP_066554.2:p.(Glu805Ala)	NC_000022.10:g.29886043A>C	(Likely) benign	2 labs	4c65c74f11
2:179604160 TTN T>G	2	179604160	179604160	T	G	TTN	c.13800A>C	NM_001267550.2	NP_001254479.2:p.(Leu4600Phe)	NC_000002.11:g.179604160T>G	(Likely) benign	2 labs	4c73175b3e
15:52446144 GNB5 G>A	15	52446144	52446144	G	A	GNB5	c.368C>T	NM_016194.4	NP_057278.2:p.(Ser123Leu)	NC_000015.9:g.52446144G>A	(Likely) pathogenic	2 labs	4c77733a5b
14:23857403 MYH6 A>T	14	23857403	23857403	A	T	MYH6	c.4320T>A	NM_002471.4	NP_002462.2:p.(Ala1440=)	NC_000014.8:g.23857403A>T	(Likely) benign	2 labs	4c81a752e1
13:52516610 ATP7B G>A	13	52516610	52516610	G	A	ATP7B	c.3324C>T	NM_000053.4	NP_000044.2:p.(Asn1108=)	NC_000013.10:g.52516610G>A	(Likely) benign	2 labs	4c94d814ad
11:108224551 ATM C>G	11	108224551	108224551	C	G	ATM	c.8730C>G	NM_000051.4	NP_000042.3:p.(Leu2910=)	NC_000011.9:g.108224551C>G	(Likely) benign	4 labs	4c952354fc
2:48026006 MSH6 A>G	2	48026006	48026006	A	G	MSH6	c.884A>G	NM_000179.3	NP_000170.1:p.(Lys295Arg)	NC_000002.11:g.48026006A>G	VUS	2 labs	4ca23289ba
11:47371339 MYBPC3 C>T	11	47371339	47371339	C	T	MYBPC3	c.640G>A	NM_000256.3	NP_000247.2:p.(Asp214Asn)	NC_000011.9:g.47371339C>T	VUS	2 labs	4ca4866140
1:237540615 RYR2 A>C	1	237540615	237540615	A	C	RYR2	c.464-8A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237540615A>C	(Likely) benign	2 labs	4ca7c16bb4
12:974355 WNK1 T>TC	12	974355	974356	T	TC	WNK1	c.2220dup	NM_213655.5	NP_998820.3:p.(Phe741LeufsTer30)	NC_000012.11:g.974356dup	(Likely) benign	3 labs	4ca87c9c59
X:53349845 IQSEC2 C>T	X	53349845	53349845	C	T	IQSEC2	c.477G>A	NM_001111125.3	NP_001104595.1:p.(Leu159=)	NC_000023.10:g.53349845C>T	(Likely) benign	2 labs	4cb585f66a
18:25563053 CDH2 T>C	18	25563053	25563053	T	C	CDH2	c.2210-6A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25563053T>C	(Likely) benign	2 labs	4cc61e3047
2:179436817 TTN T>C	2	179436817	179436817	T	C	TTN	c.74042A>G	NM_001267550.2	NP_001254479.2:p.(Gln24681Arg)	NC_000002.11:g.179436817T>C	(Likely) benign	4 labs	4cc688b623
1:66083694 LEPR G>A	1	66083694	66083694	G	A	LEPR	c.2260G>A	NM_001003679.3	NP_001003679.1:p.(Val754Met)	NC_000001.10:g.66083694G>A	(Likely) benign	2 labs	4ccc462501
11:2190951 TH C>T	11	2190951	2190951	C	T	TH	c.334G>A	NM_199292.3	NP_954986.2:p.(Val112Met)	NC_000011.9:g.2190951C>T	(Likely) benign	3 labs	4ccc8f8588
16:920720 LMF1 G>C	16	920720	920720	G	C	LMF1	c.1232+9C>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.920720G>C	(Likely) benign	2 labs	4cea13cf25
5:149460343 CSF1R G>A	5	149460343	149460343	G	A	CSF1R	c.294C>T	NM_001375320.1	NP_001362249.1:p.(His98=)	NC_000005.9:g.149460343G>A	(Likely) benign	2 labs	4cf191cbe3
11:74168361 KCNE3 C>T	11	74168361	74168361	C	T	KCNE3	c.248G>A	NM_005472.5	NP_005463.1:p.(Arg83His)	NC_000011.9:g.74168361C>T	(Likely) benign	3 labs	4cf4302ce3
11:47353163 MYBPC3 A>G	11	47353163	47353163	A	G	MYBPC3	c.*131T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353163A>G	(Likely) benign	2 labs	4d077bf541
2:179400895 TTN C>T	2	179400895	179400895	C	T	TTN	c.100579G>A	NM_001267550.2	NP_001254479.2:p.(Val33527Ile)	NC_000002.11:g.179400895C>T	(Likely) benign	2 labs	4d10af6f59
1:6531575 PLEKHG5 G>C	1	6531575	6531575	G	C	PLEKHG5	c.1254C>G	NM_198681.4	NP_941374.3:p.(Pro418=)	NC_000001.10:g.6531575G>C	(Likely) benign	2 labs	4d156a2713
9:34637689 SIGMAR1 C>T	9	34637689	34637689	C	T	SIGMAR1	c.6G>A	NM_001282208.2	NP_001269137.1:p.(Gln2=)	NC_000009.11:g.34637689C>T	(Likely) benign	3 labs	4d165f6860
1:156107548 LMNA G>A	1	156107548	156107548	G	A	LMNA	c.1712G>A	NM_001282625.2	NP_001269554.1:p.(Arg571His)	NC_000001.10:g.156107548G>A	(Likely) benign	4 labs	4d193ac7de
15:89862341 POLG A>G	15	89862341	89862341	A	G	POLG	c.3105-11T>C	NM_001126131.2	NP_001119603.1:p.?	NC_000015.9:g.89862341A>G	(Likely) benign	2 labs	4d281c4709
2:167134700 SCN9A G>C	2	167134700	167134700	G	C	SCN9A	c.2434C>G	NM_002977.3	NP_002968.1:p.(Leu812Val)	NC_000002.11:g.167134700G>C	VUS	3 labs	4d2e0c577b
16:15820689 MYH11 C>G	16	15820689	15820689	C	G	MYH11	c.3879+16G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15820689C>G	(Likely) benign	2 labs	4d2fcce0c6
22:51064022 ARSA G>A	22	51064022	51064022	G	A	ARSA	c.1195C>T	NM_000487.6	NP_000478.3:p.(His399Tyr)	NC_000022.10:g.51064022G>A	(Likely) pathogenic	2 labs	4d34f52ef2
13:32911297 BRCA2 TAAAC>T	13	32911297	32911303	TAAAC	T	BRCA2	c.2808_2811del	NM_000059.4	NP_000050.3:p.(Ala938ProfsTer21)	NC_000013.10:g.32911300_32911303del	(Likely) pathogenic	4 labs	4d4288b2d2
2:179658218 TTN G>A	2	179658218	179658218	G	A	TTN	c.1449C>T	NM_001267550.2	NP_001254479.2:p.(Ala483=)	NC_000002.11:g.179658218G>A	(Likely) benign	3 labs	4d50089154
18:21115579 NPC1 G>A	18	21115579	21115579	G	A	NPC1	c.3331C>T	NM_000271.5	NP_000262.2:p.(Leu1111=)	NC_000018.9:g.21115579G>A	(Likely) benign	3 labs	4d59a876ce
17:41243033 BRCA1 C>T	17	41243033	41243033	C	T	BRCA1	c.4113G>A	NM_007294.4	NP_009225.1:p.(Gly1371=)	NC_000017.10:g.41243033C>T	(Likely) benign	5 labs	4d5a75cec2
6:32064721 TNXB G>C	6	32064721	32064721	G	C	TNXB	c.909C>G	NM_019105.8	NP_061978.6:p.(Gly303=)	NC_000006.11:g.32064721G>C	(Likely) benign	2 labs	4d61548f67
2:179655526 TTN G>A	2	179655526	179655526	G	A	TTN	c.1709C>T	NM_001267550.2	NP_001254479.2:p.(Ala570Val)	NC_000002.11:g.179655526G>A	(Likely) benign	2 labs	4d618de0e8
9:137726950 COL5A1 C>T	9	137726950	137726950	C	T	COL5A1	c.5270C>T	NM_000093.5	NP_000084.3:p.(Thr1757Met)	NC_000009.11:g.137726950C>T	(Likely) benign	4 labs	4d688af141
1:216251486 USH2A C>T	1	216251486	216251486	C	T	USH2A	c.5517G>A	NM_206933.4	NP_996816.3:p.(Val1839=)	NC_000001.10:g.216251486C>T	(Likely) benign	2 labs	4d70233d38
1:3328891 PRDM16 G>A	1	3328891	3328891	G	A	PRDM16	c.2130G>A	NM_022114.4	NP_071397.3:p.(Gly710=)	NC_000001.10:g.3328891G>A	(Likely) benign	2 labs	4d716358f4
21:35742802 KCNE2 C>G	21	35742802	35742802	C	G	KCNE2	c.25C>G	NM_172201.2	NP_751951.1:p.(Gln9Glu)	NC_000021.8:g.35742802C>G	(Likely) benign	2 labs	4d7585f3c5
6:135811824 AHI1 A>G	6	135811824	135811824	A	G	AHI1	c.72T>C	NM_001134831.2	NP_001128303.1:p.(Ser24=)	NC_000006.11:g.135811824A>G	(Likely) benign	2 labs	4d781fae66
16:11650441 LITAF G>A	16	11650441	11650441	G	A	LITAF	c.146C>T	NM_001136473.1	NP_001129945.1:p.(Thr49Met)	NC_000016.9:g.11650441G>A	(Likely) benign	3 labs	4d7948d8cd
2:179465700 TTN A>T	2	179465700	179465700	A	T	TTN	c.48227T>A	NM_133378.4	NP_596869.4:p.(Phe16076Tyr)	NC_000002.11:g.179465700A>T	VUS	2 labs	4d7e1a926e
2:179422112 TTN G>A	2	179422112	179422112	G	A	TTN	c.87877C>T	NM_001267550.2	NP_001254479.2:p.(Arg29293Cys)	NC_000002.11:g.179422112G>A	(Likely) benign	5 labs	4d7fe52703
6:116752290 DSE A>G	6	116752290	116752290	A	G	DSE	c.844A>G	NM_013352.4	NP_037484.1:p.(Ile282Val)	NC_000006.11:g.116752290A>G	(Likely) benign	2 labs	4d9228f495
6:1611802 FOXC1 G>GGGC	6	1611802	1611821	G	GGGC	FOXC1	c.1139_1141dup	NM_001453.3	NP_001444.2:p.(Gly380dup)	NC_000006.11:g.1611819_1611821dup	(Likely) benign	2 labs	4d92e39b0a
1:1737942 GNB1 A>G	1	1737942	1737942	A	G	GNB1	c.239T>C	NM_002074.5	NP_002065.1:p.(Ile80Thr)	NC_000001.10:g.1737942A>G	(Likely) pathogenic	2 labs	4d93efcbda
11:6662745 DCHS1 C>CCAG	11	6662745	6662771	C	CCAG	DCHS1	c.97_99dup	NM_003737.4	NP_003728.1:p.(Leu33dup)	NC_000011.9:g.6662769_6662771dup	(Likely) benign	2 labs	4d98bf5c52
14:23858677 MYH6 C>T	14	23858677	23858677	C	T	MYH6	c.3903G>A	NM_002471.4	NP_002462.2:p.(Ser1301=)	NC_000014.8:g.23858677C>T	(Likely) benign	5 labs	4da0ba9b74
1:216243499 USH2A C>T	1	216243499	216243499	C	T	USH2A	c.5993G>A	NM_206933.4	NP_996816.3:p.(Arg1998His)	NC_000001.10:g.216243499C>T	(Likely) benign	2 labs	4d9eadc04a
1:236912449 ACTN2 T>C	1	236912449	236912449	T	C	ACTN2	c.917T>C	NM_001278344.2	NP_001265273.1:p.(Ile306Thr)	NC_000001.10:g.236912449T>C	VUS	2 labs	4da04c3fed
10:67680392 CTNNA3 G>GA	10	67680392	67680398	G	GA	CTNNA3	c.2401-18dup	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67680398dup	(Likely) benign	3 labs	4da078deee
16:1004558 LMF1 C>G	16	1004558	1004558	C	G	LMF1	c.302G>C	NM_022773.4	NP_073610.2:p.(Arg101Thr)	NC_000016.9:g.1004558C>G	(Likely) benign	2 labs	4da0a561f5
5:140054717 HARS1 G>A	5	140054717	140054717	G	A	HARS1	c.1136C>T	NM_001258041.3	NP_001244970.1:p.(Ala379Val)	NC_000005.9:g.140054717G>A	(Likely) benign	2 labs	4da204bea3
16:1570058 IFT140 T>G	16	1570058	1570058	T	G	IFT140	c.3874-10A>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1570058T>G	(Likely) benign	2 labs	4db4165bd0
6:15615548 DTNBP1 T>C	6	15615548	15615548	T	C	DTNBP1	c.438A>G	NM_183040.2	NP_898861.1:p.(Arg146=)	NC_000006.11:g.15615548T>C	(Likely) benign	2 labs	4db4eb5ea5
1:10431329 KIF1B C>T	1	10431329	10431329	C	T	KIF1B	c.4808+9C>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10431329C>T	(Likely) benign	2 labs	4db765004b
12:111357010 MYL2 AG>A	12	111357010	111357011	AG	A	MYL2	c.4-14del	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111357011del	(Likely) benign	2 labs	4db984aa2c
2:179597083 TTN G>A	2	179597083	179597083	G	A	TTN	c.16622-9C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597083G>A	(Likely) benign	2 labs	4dcdffdbcb
5:121412582 LOX C>T	5	121412582	121412582	C	T	LOX	c.740+6G>A	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121412582C>T	(Likely) benign	3 labs	4dcf953be1
2:109380406 RANBP2 A>C	2	109380406	109380406	A	C	RANBP2	c.3411A>C	NM_006267.5	NP_006258.3:p.(Pro1137=)	NC_000002.11:g.109380406A>C	(Likely) benign	4 labs	4def4ee479
13:111118344 COL4A2 C>T	13	111118344	111118344	C	T	COL4A2	c.1979-6C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111118344C>T	(Likely) benign	3 labs	4df0a077f0
20:10653442 JAG1 G>A	20	10653442	10653442	G	A	JAG1	c.294C>T	NM_000214.3	NP_000205.1:p.(Ser98=)	NC_000020.10:g.10653442G>A	(Likely) benign	3 labs	4df5c5e70f
X:32536265 DMD T>G	X	32536265	32536265	T	G	DMD	c.1800-17A>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32536265T>G	(Likely) benign	2 labs	4df96c491a
15:23892351 MAGEL2 ACCATCGGGGTCCCCGGAGGAGGAGGATGGG>A	15	23892351	23892415	ACCATCGGGGTCCCCGGAGGAGGAGGATGGG	A	MAGEL2	c.509_538del	NM_019066.5	NP_061939.3:p.(Ala170_Met179del)	NC_000015.9:g.23892386_23892415del	(Likely) benign	3 labs	4dfcdfee8c
11:65306655 LTBP3 T>A	11	65306655	65306655	T	A	LTBP3	c.3808A>T	NM_001130144.3	NP_001123616.1:p.(Ser1270Cys)	NC_000011.9:g.65306655T>A	VUS	2 labs	4e06062d2c
14:23871682 MYH6 C>T	14	23871682	23871682	C	T	MYH6	c.1132G>A	NM_002471.4	NP_002462.2:p.(Gly378Ser)	NC_000014.8:g.23871682C>T	(Likely) benign	3 labs	4e09ffd8f9
19:38956779 RYR1 C>T	19	38956779	38956779	C	T	RYR1	c.2919C>T	NM_000540.3	NP_000531.2:p.(His973=)	NC_000019.9:g.38956779C>T	(Likely) benign	5 labs	4e0b6e82e8
6:76657145 IMPG1 A>C	6	76657145	76657145	A	C	IMPG1	c.1930T>G	NM_001563.4	NP_001554.2:p.(Ser644Ala)	NC_000006.11:g.76657145A>C	(Likely) benign	2 labs	4e1420c8dc
2:179469764 TTN G>A	2	179469764	179469764	G	A	TTN	c.54140C>T	NM_001267550.2	NP_001254479.2:p.(Ala18047Val)	NC_000002.11:g.179469764G>A	VUS	3 labs	4e23414609
8:145618947 CPSF1 C>T	8	145618947	145618947	C	T	CPSF1	c.4080G>A	NM_013291.3	NP_037423.2:p.(Leu1360=)	NC_000008.10:g.145618947C>T	(Likely) benign	2 labs	4e386c87a4
12:133201381 POLE T>A	12	133201381	133201381	T	A	POLE	c.6763A>T	NM_006231.4	NP_006222.2:p.(Ile2255Phe)	NC_000012.11:g.133201381T>A	(Likely) benign	3 labs	4e4bc2350a
3:48508191 TREX1 G>GC	3	48508191	48508198	G	GC	TREX1	c.114dup	NM_007248.5	NP_009179.2:p.(Thr39HisfsTer53)	NC_000003.11:g.48508198dup	(Likely) pathogenic	2 labs	4e5322b5c3
2:170338584 BBS5 C>CA	2	170338584	170338585	C	CA	BBS5	c.60-176dup	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170338585dup	(Likely) benign	2 labs	4e5e892de2
2:29294253 PCARE C>T	2	29294253	29294253	C	T	PCARE	c.2875G>A	NM_001029883.3	NP_001025054.1:p.(Ala959Thr)	NC_000002.11:g.29294253C>T	(Likely) benign	2 labs	4e6e0e1e50
19:49714734 TRPM4 T>G	19	49714734	49714734	T	G	TRPM4	c.3641-17T>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49714734T>G	(Likely) benign	2 labs	4e7cb5b978
X:49087087 CACNA1F C>T	X	49087087	49087087	C	T	CACNA1F	c.522-16G>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49087087C>T	(Likely) pathogenic	2 labs	4e86713b1f
14:88407785 GALC G>A	14	88407785	88407785	G	A	GALC	c.1710C>T	NM_001201402.2	NP_001188331.1:p.(Phe570=)	NC_000014.8:g.88407785G>A	(Likely) benign	2 labs	4e86a06d9c
16:89871703 FANCA T>G	16	89871703	89871703	T	G	FANCA	c.694A>C	NM_000135.4	NP_000126.2:p.(Arg232=)	NC_000016.9:g.89871703T>G	(Likely) benign	2 labs	4e8a31a77e
X:76939902 ATRX G>A	X	76939902	76939902	G	A	ATRX	c.846C>T	NM_000489.6	NP_000480.3:p.(Ser282=)	NC_000023.10:g.76939902G>A	(Likely) benign	4 labs	4e9b5fa6d6
6:3225580 TUBB2B G>A	6	3225580	3225580	G	A	TUBB2B	c.743C>T	NM_178012.5	NP_821080.1:p.(Ala248Val)	NC_000006.11:g.3225580G>A	(Likely) benign	2 labs	4ea008b96d
7:44191900 GCK G>A	7	44191900	44191900	G	A	GCK	c.333C>T	NM_001354800.1	NP_001341729.1:p.(Pro111=)	NC_000007.13:g.44191900G>A	(Likely) benign	2 labs	4ea2447a52
10:88439911 LDB3 G>A	10	88439911	88439911	G	A	LDB3	c.318G>A	NM_001171610.2	NP_001165081.1:p.(Gln106=)	NC_000010.10:g.88439911G>A	(Likely) benign	2 labs	4ea7a010aa
1:196712655 CFH T>C	1	196712655	196712655	T	C	CFH	c.3207T>C	NM_000186.4	NP_000177.2:p.(Ser1069=)	NC_000001.10:g.196712655T>C	(Likely) benign	3 labs	4ea9e0ef69
5:16478200 RETREG1 G>A	5	16478200	16478200	G	A	RETREG1	c.816C>T	NM_001034850.3	NP_001030022.1:p.(Asp272=)	NC_000005.9:g.16478200G>A	(Likely) benign	2 labs	4eac28163f
8:11615888 GATA4 G>A	8	11615888	11615888	G	A	GATA4	c.1236G>A	NM_001308093.3	NP_001295022.1:p.(Ala412=)	NC_000008.10:g.11615888G>A	(Likely) benign	2 labs	4eba3fa4c1
22:32269302 DEPDC5 G>A	22	32269302	32269302	G	A	DEPDC5	c.3547G>A	NM_001242896.3	NP_001229825.1:p.(Ala1183Thr)	NC_000022.10:g.32269302G>A	VUS	2 labs	4ebf30cec0
4:79343055 FRAS1 C>T	4	79343055	79343055	C	T	FRAS1	c.4579C>T	NM_025074.7	NP_079350.5:p.(Arg1527Trp)	NC_000004.11:g.79343055C>T	(Likely) benign	4 labs	4ebf989e57
9:98244242 PTCH1 T>C	9	98244242	98244242	T	C	PTCH1	c.735A>G	NM_000264.5	NP_000255.2:p.(Thr245=)	NC_000009.11:g.98244242T>C	(Likely) benign	3 labs	4ec436a1a4
2:179569400 TTN C>T	2	179569400	179569400	C	T	TTN	c.29799G>A	NM_001267550.2	NP_001254479.2:p.(Ser9933=)	NC_000002.11:g.179569400C>T	(Likely) benign	3 labs	4edfc5ac29
3:178928079 PIK3CA G>A	3	178928079	178928079	G	A	PIK3CA	c.1357G>A	NM_006218.4	NP_006209.2:p.(Glu453Lys)	NC_000003.11:g.178928079G>A	(Likely) pathogenic	2 labs	4ee8278875
22:41923324 ACO2 C>T	22	41923324	41923324	C	T	ACO2	c.1986C>T	NM_001098.3	NP_001089.1:p.(Asp662=)	NC_000022.10:g.41923324C>T	(Likely) benign	2 labs	4ef5f2e9d7
3:37092025 MLH1 C>T	3	37092025	37092025	C	T	MLH1	c.2152C>T	NM_000249.4	NP_000240.1:p.(His718Tyr)	NC_000003.11:g.37092025C>T	(Likely) benign	3 labs	4f00d08bb2
14:105169524 INF2 C>T	14	105169524	105169524	C	T	INF2	c.474C>T	NM_001031714.4	NP_001026884.3:p.(His158=)	NC_000014.8:g.105169524C>T	(Likely) benign	2 labs	4f013d6777
17:39919560 JUP C>T	17	39919560	39919560	C	T	JUP	c.1172G>A	NM_001352773.2	NP_001339702.1:p.(Ser391Asn)	NC_000017.10:g.39919560C>T	(Likely) benign	3 labs	4f04f26496
11:6651000 DCHS1 C>A	11	6651000	6651000	C	A	DCHS1	c.4938G>T	NM_003737.4	NP_003728.1:p.(Ala1646=)	NC_000011.9:g.6651000C>A	(Likely) benign	3 labs	4f12dad935
9:35060421 VCP G>A	9	35060421	35060421	G	A	VCP	c.1584C>T	NM_007126.5	NP_009057.1:p.(Ala528=)	NC_000009.11:g.35060421G>A	(Likely) benign	3 labs	4f1cc4b479
16:88798731 PIEZO1 T>C	16	88798731	88798731	T	C	PIEZO1	c.2991+12A>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798731T>C	(Likely) benign	2 labs	4f2636da73
13:32910630 BRCA2 A>T	13	32910630	32910630	A	T	BRCA2	c.2138A>T	NM_000059.4	NP_000050.3:p.(Gln713Leu)	NC_000013.10:g.32910630A>T	(Likely) benign	5 labs	4f2a4591d9
3:38798369 SCN10A G>T	3	38798369	38798369	G	T	SCN10A	c.1093-7C>A	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38798369G>T	(Likely) benign	3 labs	4f2c8af4db
7:73470682 ELN T>G	7	73470682	73470682	T	G	ELN	c.1232T>G	NM_000501.4	NP_000492.2:p.(Val411Gly)	NC_000007.13:g.73470682T>G	(Likely) benign	2 labs	4f3b42390f
2:15674702 NBAS A>G	2	15674702	15674702	A	G	NBAS	c.711T>C	NM_015909.4	NP_056993.2:p.(His237=)	NC_000002.11:g.15674702A>G	(Likely) benign	2 labs	4f3ecd1afd
20:42744802 JPH2 C>T	20	42744802	42744802	C	T	JPH2	c.1513G>A	NM_020433.5	NP_065166.2:p.(Gly505Ser)	NC_000020.10:g.42744802C>T	(Likely) benign	5 labs	4f568218f9
2:233347590 ECEL1 C>T	2	233347590	233347590	C	T	ECEL1	c.1656G>A	NM_004826.4	NP_004817.2:p.(Lys552=)	NC_000002.11:g.233347590C>T	(Likely) benign	2 labs	4f8b9e773f
X:153297825 MECP2 G>A	X	153297825	153297825	G	A	MECP2	c.210C>T	NM_004992.4	NP_004983.1:p.(Ser70=)	NC_000023.10:g.153297825G>A	(Likely) benign	2 labs	4f8bb89ef8
X:48768884 SLC35A2 G>C	X	48768884	48768884	G	C	SLC35A2	c.30C>G	NM_001282651.2	NP_001269580.1:p.(Thr10=)	NC_000023.10:g.48768884G>C	(Likely) benign	3 labs	4f8eed101e
1:6505817 ESPN C>T	1	6505817	6505817	C	T	ESPN	c.1286C>T	NM_031475.3	NP_113663.2:p.(Thr429Ile)	NC_000001.10:g.6505817C>T	(Likely) benign	3 labs	4f94abb96e
8:62626862 ASPH C>A	8	62626862	62626862	C	A	ASPH	c.69G>T	NM_004318.4	NP_004309.2:p.(Thr23=)	NC_000008.10:g.62626862C>A	(Likely) benign	2 labs	4fa2de5830
11:88068256 CTSC G>GA	11	88068256	88068269	G	GA	CTSC	c.173-7dup	NM_148170.5	NP_680475.1:p.?	NC_000011.9:g.88068269dup	(Likely) benign	3 labs	4fa4499eb5
10:121429431 BAG3 C>A	10	121429431	121429431	C	A	BAG3	c.249C>A	NM_004281.4	NP_004272.2:p.(His83Gln)	NC_000010.10:g.121429431C>A	(Likely) benign	2 labs	4fa96df955
4:128843076 MFSD8 T>C	4	128843076	128843076	T	C	MFSD8	c.1041A>G	NM_152778.3	NP_689991.1:p.(Val347=)	NC_000004.11:g.128843076T>C	(Likely) benign	3 labs	4faeffbc77
4:114186063 ANK2 C>T	4	114186063	114186063	C	T	ANK2	c.1397C>T	NM_001148.6	NP_001139.3:p.(Thr466Met)	NC_000004.11:g.114186063C>T	VUS	2 labs	4fb5155014
19:1219315 STK11 C>T	19	1219315	1219315	C	T	STK11	c.375-8C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1219315C>T	(Likely) benign	2 labs	4fc8cc70ac
15:85382912 ALPK3 AC>A	15	85382912	85382914	AC	A	ALPK3	c.423-19del	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85382914del	(Likely) benign	2 labs	4fbe1da12d
3:38607972 SCN5A G>A	3	38607972	38607972	G	A	SCN5A	c.3768C>T	NM_001099404.2	NP_001092874.1:p.(Leu1256=)	NC_000003.11:g.38607972G>A	(Likely) benign	2 labs	4fbfcc8f48
4:6304085 WFS1 T>C	4	6304085	6304085	T	C	WFS1	c.2563T>C	NM_006005.3	NP_005996.2:p.(Ser855Pro)	NC_000004.11:g.6304085T>C	(Likely) benign	3 labs	4fc2149d02
2:179458591 TTN C>T	2	179458591	179458591	C	T	TTN	c.58436G>A	NM_001267550.2	NP_001254479.2:p.(Arg19479His)	NC_000002.11:g.179458591C>T	(Likely) benign	2 labs	4fc42dfd0f
5:127609564 FBN2 A>G	5	127609564	127609564	A	G	FBN2	c.7808T>C	NM_001999.4	NP_001990.2:p.(Phe2603Ser)	NC_000005.9:g.127609564A>G	VUS	2 labs	4fcf87c263
5:90459675 ADGRV1 C>T	5	90459675	90459675	C	T	ADGRV1	c.18879C>T	NM_032119.4	NP_115495.3:p.(Ile6293=)	NC_000005.9:g.90459675C>T	(Likely) benign	2 labs	4fd13ee0da
5:90103513 ADGRV1 A>G	5	90103513	90103513	A	G	ADGRV1	c.14931A>G	NM_032119.4	NP_115495.3:p.(Leu4977=)	NC_000005.9:g.90103513A>G	(Likely) benign	2 labs	4fdf3378b2
2:179634520 TTN C>T	2	179634520	179634520	C	T	TTN	c.8788G>A	NM_001267550.2	NP_001254479.2:p.(Val2930Ile)	NC_000002.11:g.179634520C>T	(Likely) benign	2 labs	4fe0fa01d7
2:179438185 TTN G>A	2	179438185	179438185	G	A	TTN	c.72674C>T	NM_001267550.2	NP_001254479.2:p.(Pro24225Leu)	NC_000002.11:g.179438185G>A	VUS	2 labs	4ff35ad4c9
2:215661765 BARD1 A>T	2	215661765	215661765	A	T	BARD1	c.215+20T>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661765A>T	(Likely) benign	2 labs	4ff3f1b4ce
2:179593389 TTN C>T	2	179593389	179593389	C	T	TTN	c.18313G>A	NM_001256850.1	NP_001243779.1:p.(Gly6105Arg)	NC_000002.11:g.179593389C>T	VUS	2 labs	4ff592fb8c
13:110435756 IRS2 C>G	13	110435756	110435756	C	G	IRS2	c.2645G>C	NM_003749.3	NP_003740.2:p.(Gly882Ala)	NC_000013.10:g.110435756C>G	(Likely) benign	2 labs	4ffa0fcb52
3:170198181 SLC7A14 A>C	3	170198181	170198181	A	C	SLC7A14	c.1890T>G	NM_020949.3	NP_066000.2:p.(Pro630=)	NC_000003.11:g.170198181A>C	(Likely) benign	2 labs	4ffe2481f1
10:55581936 PCDH15 G>T	10	55581936	55581936	G	T	PCDH15	c.5550C>A	NM_033056.4	NP_149045.3:p.(Thr1850=)	NC_000010.10:g.55581936G>T	(Likely) benign	2 labs	4ffe9399bb
10:13154572 OPTN A>G	10	13154572	13154572	A	G	OPTN	c.489A>G	NM_001008211.1	NP_001008212.1:p.(Glu163=)	NC_000010.10:g.13154572A>G	(Likely) benign	3 labs	501d3e730b
17:4849284 PFN1 G>A	17	4849284	4849284	G	A	PFN1	c.334C>T	NM_005022.4	NP_005013.1:p.(Leu112=)	NC_000017.10:g.4849284G>A	(Likely) benign	2 labs	501f1db08b
9:2718415 KCNV2 G>A	9	2718415	2718415	G	A	KCNV2	c.676G>A	NM_133497.4	NP_598004.1:p.(Val226Ile)	NC_000009.11:g.2718415G>A	(Likely) benign	2 labs	502214d9ca
6:7581784 DSP C>T	6	7581784	7581784	C	T	DSP	c.5361C>T	NM_004415.4	NP_004406.2:p.(Phe1787=)	NC_000006.11:g.7581784C>T	(Likely) benign	2 labs	50295d0da0
9:107556793 ABCA1 T>TAA	9	107556793	107556811	T	TAA	ABCA1	c.5383-4_5383-3dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556810_107556811dup	(Likely) benign	2 labs	502bbb817d
12:25368366 KRAS C>T	12	25368366	25368366	C	T	KRAS	c.*4+5G>A	NM_033360.4	NP_203524.1:p.?	NC_000012.11:g.25368366C>T	(Likely) benign	3 labs	5030f1c280
3:71823582 PROK2 C>T	3	71823582	71823582	C	T	PROK2	c.285+14G>A	NM_001126128.2	NP_001119600.1:p.?	NC_000003.11:g.71823582C>T	(Likely) benign	2 labs	5032f4adb5
6:112480088 LAMA4 G>C	6	112480088	112480088	G	C	LAMA4	c.1669-6C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112480088G>C	(Likely) benign	4 labs	5033458ae7
9:27183463 TEK A>C	9	27183463	27183463	A	C	TEK	c.1037A>C	NM_000459.5	NP_000450.3:p.(Gln346Pro)	NC_000009.11:g.27183463A>C	(Likely) benign	2 labs	50405e2d11
3:38647465 SCN5A C>T	3	38647465	38647465	C	T	SCN5A	c.1315G>A	NM_001099404.2	NP_001092874.1:p.(Glu439Lys)	NC_000003.11:g.38647465C>T	VUS	2 labs	503bab28fe
1:2160304 SKI C>G	1	2160304	2160304	C	G	SKI	c.99C>G	NM_003036.4	NP_003027.1:p.(Gly33=)	NC_000001.10:g.2160304C>G	(Likely) benign	2 labs	50418c42b1
11:73768459 C2CD3 C>A	11	73768459	73768459	C	A	C2CD3	c.5082G>T	NM_001286577.2	NP_001273506.1:p.(Gln1694His)	NC_000011.9:g.73768459C>A	(Likely) benign	4 labs	5044bd893b
8:145000022 PLEC G>A	8	145000022	145000022	G	A	PLEC	c.4156C>T	NM_000445.5	NP_000436.2:p.(Arg1386Cys)	NC_000008.10:g.145000022G>A	VUS	2 labs	505a34c8e0
8:22064860 BMP1 C>T	8	22064860	22064860	C	T	BMP1	c.2406C>T	NM_006129.5	NP_006120.1:p.(Tyr802=)	NC_000008.10:g.22064860C>T	(Likely) benign	2 labs	505e9fe03e
1:78392446 NEXN G>A	1	78392446	78392446	G	A	NEXN	c.733G>A	NM_144573.4	NP_653174.3:p.(Gly245Arg)	NC_000001.10:g.78392446G>A	(Likely) benign	3 labs	5060dc72c4
11:47355294 MYBPC3 G>A	11	47355294	47355294	G	A	MYBPC3	c.3004C>T	NM_000256.3	NP_000247.2:p.(Arg1002Trp)	NC_000011.9:g.47355294G>A	(Likely) benign	4 labs	5066ac3e06
11:1775385 CTSD C>T	11	1775385	1775385	C	T	CTSD	c.828-17G>A	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1775385C>T	(Likely) benign	2 labs	506b9fc495
17:40716056 COASY C>T	17	40716056	40716056	C	T	COASY	c.778C>T	NM_025233.7	NP_079509.5:p.(Pro260Ser)	NC_000017.10:g.40716056C>T	VUS	2 labs	50890b1d88
17:41234463 BRCA1 G>A	17	41234463	41234463	G	A	BRCA1	c.4315C>T	NM_007294.4	NP_009225.1:p.(Leu1439Phe)	NC_000017.10:g.41234463G>A	(Likely) benign	2 labs	508e3c439f
7:91670095 AKAP9 A>G	7	91670095	91670095	A	G	AKAP9	c.4800A>G	NM_005751.5	NP_005742.4:p.(Glu1600=)	NC_000007.13:g.91670095A>G	(Likely) benign	2 labs	5091d194ed
1:237608841 RYR2 G>A	1	237608841	237608841	G	A	RYR2	c.1292+19G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237608841G>A	(Likely) benign	2 labs	509768642d
6:76751738 IMPG1 C>T	6	76751738	76751738	C	T	IMPG1	c.173G>A	NM_001563.4	NP_001554.2:p.(Arg58Lys)	NC_000006.11:g.76751738C>T	(Likely) benign	2 labs	509ca17601
6:112451146 LAMA4 G>A	6	112451146	112451146	G	A	LAMA4	c.4065C>T	NM_001105206.3	NP_001098676.2:p.(Phe1355=)	NC_000006.11:g.112451146G>A	(Likely) benign	4 labs	509dc75440
2:179548789 TTN C>G	2	179548789	179548789	C	G	TTN	c.32743G>C	NM_001267550.2	NP_001254479.2:p.(Ala10915Pro)	NC_000002.11:g.179548789C>G	(Likely) benign	2 labs	50a24170b5
10:69959320 MYPN C>A	10	69959320	69959320	C	A	MYPN	c.3481C>A	NM_032578.4	NP_115967.2:p.(Leu1161Ile)	NC_000010.10:g.69959320C>A	(Likely) benign	4 labs	50aebacf4c
17:41244914 BRCA1 T>C	17	41244914	41244914	T	C	BRCA1	c.2634A>G	NM_007294.4	NP_009225.1:p.(Ala878=)	NC_000017.10:g.41244914T>C	(Likely) benign	4 labs	50b13b5f1e
20:42744341 JPH2 G>A	20	42744341	42744341	G	A	JPH2	c.1974C>T	NM_020433.5	NP_065166.2:p.(Ala658=)	NC_000020.10:g.42744341G>A	(Likely) benign	3 labs	50b3ba3bd2
3:12458436 PPARG C>T	3	12458436	12458436	C	T	PPARG	c.963C>T	NM_138711.6	NP_619725.3:p.(His321=)	NC_000003.11:g.12458436C>T	(Likely) benign	2 labs	50b557bc8f
2:15449283 NBAS G>C	2	15449283	15449283	G	C	NBAS	c.4659+12C>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15449283G>C	(Likely) benign	2 labs	50c66f7e73
2:220283349 DES G>A	2	220283349	220283349	G	A	DES	c.165G>A	NM_001927.4	NP_001918.3:p.(Gln55=)	NC_000002.11:g.220283349G>A	(Likely) benign	2 labs	50c9ecc633
13:52548126 ATP7B T>C	13	52548126	52548126	T	C	ATP7B	c.1230A>G	NM_000053.4	NP_000044.2:p.(Pro410=)	NC_000013.10:g.52548126T>C	(Likely) benign	2 labs	50ccd50def
16:84050259 SLC38A8 C>G	16	84050259	84050259	C	G	SLC38A8	c.1027G>C	NM_001080442.3	NP_001073911.1:p.(Gly343Arg)	NC_000016.9:g.84050259C>G	(Likely) benign	2 labs	50d3fc3700
1:156830779 NTRK1 G>A	1	156830779	156830779	G	A	NTRK1	c.53G>A	NM_002529.4	NP_002520.2:p.(Gly18Glu)	NC_000001.10:g.156830779G>A	(Likely) benign	3 labs	50d86304f1
16:23641665 PALB2 G>A	16	23641665	23641665	G	A	PALB2	c.1810C>T	NM_024675.4	NP_078951.2:p.(Leu604=)	NC_000016.9:g.23641665G>A	(Likely) benign	3 labs	50e24b9085
21:46896303 COL18A1 C>G	21	46896303	46896303	C	G	COL18A1	c.837C>G	NM_001379500.1	NP_001366429.1:p.(Pro279=)	NC_000021.8:g.46896303C>G	(Likely) benign	2 labs	5100c976b5
9:135139755 SETX G>A	9	135139755	135139755	G	A	SETX	c.7905C>T	NM_001351527.2	NP_001338456.1:p.(Ala2635=)	NC_000009.11:g.135139755G>A	(Likely) benign	2 labs	5104366c36
16:72135391 DHX38 C>A	16	72135391	72135391	C	A	DHX38	c.1387-8C>A	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72135391C>A	(Likely) benign	2 labs	5107546c56
X:54496874 FGD1 C>T	X	54496874	54496874	C	T	FGD1	c.676G>A	NM_004463.3	NP_004454.2:p.(Ala226Thr)	NC_000023.10:g.54496874C>T	(Likely) benign	4 labs	510aa180bc
15:28096573 OCA2 C>T	15	28096573	28096573	C	T	OCA2	c.2293G>A	NM_000275.3	NP_000266.2:p.(Ala765Thr)	NC_000015.9:g.28096573C>T	VUS	2 labs	510d91b341
13:32913271 BRCA2 A>C	13	32913271	32913271	A	C	BRCA2	c.4779A>C	NM_000059.4	NP_000050.3:p.(Glu1593Asp)	NC_000013.10:g.32913271A>C	(Likely) benign	2 labs	51104c24f5
14:65242067 SPTB T>G	14	65242067	65242067	T	G	SPTB	c.4618A>C	NM_001024858.4	NP_001020029.1:p.(Arg1540=)	NC_000014.8:g.65242067T>G	(Likely) benign	3 labs	51169876d0
4:114279770 ANK2 T>C	4	114279770	114279770	T	C	ANK2	c.9996T>C	NM_001148.6	NP_001139.3:p.(Ser3332=)	NC_000004.11:g.114279770T>C	(Likely) benign	2 labs	5119fde80c
9:107556793 ABCA1 T>TAAAA	9	107556793	107556811	T	TAAAA	ABCA1	c.5383-6_5383-3dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556808_107556811dup	(Likely) benign	2 labs	51200e51f0
10:75834573 VCL T>A	10	75834573	75834573	T	A	VCL	c.695T>A	NM_003373.4	NP_003364.1:p.(Phe232Tyr)	NC_000010.10:g.75834573T>A	VUS	3 labs	51224189da
X:153581932 FLNA A>G	X	153581932	153581932	A	G	FLNA	c.5850T>C	NM_001110556.2	NP_001104026.1:p.(Ala1950=)	NC_000023.10:g.153581932A>G	(Likely) benign	2 labs	512be7cd0a
3:38739172 SCN10A G>A	3	38739172	38739172	G	A	SCN10A	c.5539C>T	NM_006514.4	NP_006505.4:p.(Arg1847Ter)	NC_000003.11:g.38739172G>A	VUS	2 labs	512ced40c2
13:32900655 BRCA2 A>G	13	32900655	32900655	A	G	BRCA2	c.536A>G	NM_000059.4	NP_000050.3:p.(His179Arg)	NC_000013.10:g.32900655A>G	(Likely) benign	2 labs	5146e6041d
13:20763748 GJB2 A>G	13	20763748	20763748	A	G	GJB2	c.-22-6T>C	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20763748A>G	(Likely) benign	3 labs	51492ac5c2
9:111693404 ELP1 C>T	9	111693404	111693404	C	T	ELP1	c.23G>A	NM_003640.5	NP_003631.2:p.(Arg8Gln)	NC_000009.11:g.111693404C>T	VUS	2 labs	514d394aff
13:77566135 CLN5 G>C	13	77566135	77566135	G	C	CLN5				NC_000013.10:g.77566135G>C	(Likely) benign	2 labs	5153bc75f7
16:23619279 PALB2 G>A	16	23619279	23619279	G	A	PALB2	c.3256C>T	NM_024675.4	NP_078951.2:p.(Arg1086Ter)	NC_000016.9:g.23619279G>A	(Likely) pathogenic	3 labs	515e3fecae
18:28660054 DSC2 G>C	18	28660054	28660054	G	C	DSC2	c.1520+8C>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28660054G>C	(Likely) benign	2 labs	5169b7c47b
9:135203640 SETX G>C	9	135203640	135203640	G	C	SETX	c.3345C>G	NM_001351527.2	NP_001338456.1:p.(Ala1115=)	NC_000009.11:g.135203640G>C	(Likely) benign	3 labs	516ef8bc4a
1:237666615 RYR2 A>G	1	237666615	237666615	A	G	RYR2	c.2423A>G	NM_001035.3	NP_001026.2:p.(His808Arg)	NC_000001.10:g.237666615A>G	VUS	2 labs	5170271e7e
4:6293098 WFS1 C>T	4	6293098	6293098	C	T	WFS1	c.631+4C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293098C>T	VUS	3 labs	51763797cd
7:26232178 HNRNPA2B1 G>T	7	26232178	26232178	G	T	HNRNPA2B1	c.1020C>A	NM_031243.3	NP_112533.1:p.(Gly340=)	NC_000007.13:g.26232178G>T	(Likely) benign	2 labs	517c0ffc04
8:10469906 RP1L1 C>G	8	10469906	10469906	C	G	RP1L1	c.1702G>C	NM_178857.6	NP_849188.4:p.(Ala568Pro)	NC_000008.10:g.10469906C>G	(Likely) benign	2 labs	5182c135a8
16:15853476 MYH11 G>C	16	15853476	15853476	G	C	MYH11	c.1379C>G	NM_001040113.2	NP_001035202.1:p.(Ser460Cys)	NC_000016.9:g.15853476G>C	VUS	3 labs	5185d6e53f
13:32911939 BRCA2 G>A	13	32911939	32911939	G	A	BRCA2	c.3447G>A	NM_000059.4	NP_000050.3:p.(Met1149Ile)	NC_000013.10:g.32911939G>A	(Likely) benign	2 labs	518624679e
19:35524874 SCN1B G>A	19	35524874	35524874	G	A	SCN1B	c.679G>A	NM_199037.5	NP_950238.1:p.(Gly227Arg)	NC_000019.9:g.35524874G>A	VUS	2 labs	51868b75ec
7:128482615 FLNC G>C	7	128482615	128482615	G	C	FLNC	c.2266-14G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482615G>C	(Likely) benign	2 labs	518c08573b
2:179669299 TTN G>A	2	179669299	179669299	G	A	TTN	c.71C>T	NM_001267550.2	NP_001254479.2:p.(Thr24Ile)	NC_000002.11:g.179669299G>A	VUS	2 labs	518c10cbbc
6:152694184 SYNE1 T>C	6	152694184	152694184	T	C	SYNE1	c.9495A>G	NM_182961.4	NP_892006.3:p.(Glu3165=)	NC_000006.11:g.152694184T>C	(Likely) benign	3 labs	5195b12996
6:112462563 LAMA4 T>C	6	112462563	112462563	T	C	LAMA4	c.2810A>G	NM_001105206.3	NP_001098676.2:p.(Glu937Gly)	NC_000006.11:g.112462563T>C	(Likely) benign	2 labs	51a61565ba
7:128484122 FLNC A>G	7	128484122	128484122	A	G	FLNC	c.2994A>G	NM_001458.5	NP_001449.3:p.(Gln998=)	NC_000007.13:g.128484122A>G	(Likely) benign	2 labs	51afe74eff
14:95562149 DICER1 G>A	14	95562149	95562149	G	A	DICER1	c.5095+13C>T	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95562149G>A	(Likely) benign	2 labs	51b35a9043
8:145138022 GPAA1 C>T	8	145138022	145138022	C	T	GPAA1	c.75-5C>T	NM_003801.4	NP_003792.1:p.?	NC_000008.10:g.145138022C>T	(Likely) benign	2 labs	51b608d5c7
3:3189140 TRNT1 C>CTAAACT	3	3189140	3189142	C	CTAAACT	TRNT1	c.810_811insAAACTT	NM_182916.3	NP_886552.3:p.(Pro270_Ala271insLysLeu)	NC_000003.11:g.3189141_3189142insAAACTT	(Likely) benign	3 labs	51b79ad89e
1:47882815 FOXE3 C>G	1	47882815	47882815	C	G	FOXE3	c.828C>G	NM_012186.3	NP_036318.1:p.(Pro276=)	NC_000001.10:g.47882815C>G	(Likely) benign	2 labs	51b8c35711
2:179430304 TTN C>T	2	179430304	179430304	C	T	TTN	c.80555G>A	NM_001267550.2	NP_001254479.2:p.(Arg26852His)	NC_000002.11:g.179430304C>T	VUS	3 labs	51bb4c9139
6:7581025 DSP A>G	6	7581025	7581025	A	G	DSP	c.4602A>G	NM_004415.4	NP_004406.2:p.(Glu1534=)	NC_000006.11:g.7581025A>G	(Likely) benign	2 labs	51d153dd18
5:138160214 CTNNA1 T>C	5	138160214	138160214	T	C	CTNNA1	c.589-5T>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138160214T>C	(Likely) benign	4 labs	51d579ad58
1:47882410 FOXE3 G>A	1	47882410	47882410	G	A	FOXE3	c.423G>A	NM_012186.3	NP_036318.1:p.(Lys141=)	NC_000001.10:g.47882410G>A	(Likely) benign	3 labs	51d4b26850
7:117251704 CFTR G>A	7	117251704	117251704	G	A	CFTR	c.3209G>A	NM_000492.4	NP_000483.3:p.(Arg1070Gln)	NC_000007.13:g.117251704G>A	(Likely) pathogenic	2 labs	51d8d9bc5e
11:45957292 PHF21A TAA>T	11	45957292	45957315	TAA	T	PHF21A	c.1682-4_1682-3del	NM_001101802.3	NP_001095272.1:p.?	NC_000011.9:g.45957314_45957315del	(Likely) benign	3 labs	51dc4b5699
6:152792820 SYNE1 A>T	6	152792820	152792820	A	T	SYNE1	c.1544T>A	NM_182961.4	NP_892006.3:p.(Leu515Gln)	NC_000006.11:g.152792820A>T	VUS	2 labs	51eaf5dc19
17:56288502 MKS1 C>T	17	56288502	56288502	C	T	MKS1	c.916-119G>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56288502C>T	(Likely) benign	2 labs	51eee45bd1
X:32613922 DMD A>T	X	32613922	32613922	A	T	DMD	c.1185T>A	NM_004010.3	NP_004001.1:p.(Asp395Glu)	NC_000023.10:g.32613922A>T	(Likely) benign	4 labs	51f5045e9f
4:88537072 DSPP TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGC>T	4	88537072	88537132	TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGACAGC	T	DSPP	c.3262_3318del	NM_014208.3	NP_055023.2:p.(Ser1088_Ser1106del)	NC_000004.11:g.88537076_88537132del	(Likely) benign	2 labs	51fcf569d4
14:23852434 MYH6 C>T	14	23852434	23852434	C	T	MYH6	c.5661G>A	NM_002471.4	NP_002462.2:p.(Ala1887=)	NC_000014.8:g.23852434C>T	VUS	3 labs	52079528e5
9:140637826 EHMT1 G>T	9	140637826	140637826	G	T	EHMT1	c.827G>T	NM_024757.5	NP_079033.4:p.(Cys276Phe)	NC_000009.11:g.140637826G>T	(Likely) benign	2 labs	520b382cbf
22:29115403 CHEK2 G>C	22	29115403	29115403	G	C	CHEK2	c.663C>G	NM_007194.4	NP_009125.1:p.(Ile221Met)	NC_000022.10:g.29115403G>C	VUS	2 labs	521372a5d7
9:133556992 PRDM12 T>TCGC	9	133556992	133557028	T	TCGC	PRDM12	c.1074_1076dup	NM_021619.3	NP_067632.2:p.(Ala359dup)	NC_000009.11:g.133557026_133557028dup	(Likely) benign	3 labs	5217121984
9:101867502 TGFBR1 C>T	9	101867502	101867502	C	T	TGFBR1	c.15C>T	NM_004612.4	NP_004603.1:p.(Val5=)	NC_000009.11:g.101867502C>T	(Likely) benign	2 labs	522047663d
12:7177425 C1S G>T	12	7177425	7177425	G	T	C1S	c.1537G>T	NM_201442.4	NP_958850.1:p.(Gly513Ter)	NC_000012.11:g.7177425G>T	(Likely) pathogenic	2 labs	5223eb6e0e
19:10941061 DNM2 C>G	19	10941061	10941061	C	G	DNM2	c.2543+7C>G	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10941061C>G	(Likely) benign	2 labs	52275583e0
1:237942025 RYR2 C>T	1	237942025	237942025	C	T	RYR2	c.11835C>T	NM_001035.3	NP_001026.2:p.(Val3945=)	NC_000001.10:g.237942025C>T	(Likely) benign	3 labs	522771660c
17:41223240 BRCA1 A>G	17	41223240	41223240	A	G	BRCA1	c.4691T>C	NM_007294.4	NP_009225.1:p.(Leu1564Pro)	NC_000017.10:g.41223240A>G	(Likely) benign	3 labs	52468b597e
19:50919694 POLD1 G>C	19	50919694	50919694	G	C	POLD1	c.2862G>C	NM_001256849.1	NP_001243778.1:p.(Thr954=)	NC_000019.9:g.50919694G>C	(Likely) benign	3 labs	524ca3686f
4:140307328 NAA15 C>T	4	140307328	140307328	C	T	NAA15	c.2344C>T	NM_057175.5	NP_476516.1:p.(Arg782Ter)	NC_000004.11:g.140307328C>T	(Likely) pathogenic	2 labs	5251aba5f3
14:100803422 WARS1 C>T	14	100803422	100803422	C	T	WARS1	c.1231G>A	NM_173701.2	NP_776049.1:p.(Asp411Asn)	NC_000014.8:g.100803422C>T	(Likely) benign	2 labs	5257366f00
13:32910951 BRCA2 A>G	13	32910951	32910951	A	G	BRCA2	c.2459A>G	NM_000059.4	NP_000050.3:p.(Asp820Gly)	NC_000013.10:g.32910951A>G	(Likely) benign	3 labs	525906bd1a
2:233712226 GIGYF2 CACA>C	2	233712226	233712229	CACA	C	GIGYF2	c.3630_3632del	NM_015575.4	NP_056390.2:p.(Gln1216del)	NC_000002.11:g.233712227_233712229del	(Likely) benign	3 labs	5261330957
21:44485756 CBS G>A	21	44485756	44485756	G	A	CBS	c.501C>T	NM_000071.3	NP_000062.1:p.(Ile167=)	NC_000021.8:g.44485756G>A	(Likely) benign	2 labs	52628d72fa
9:137710489 COL5A1 C>T	9	137710489	137710489	C	T	COL5A1	c.4231-13C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710489C>T	(Likely) benign	2 labs	526bb1090d
2:112732963 MERTK C>T	2	112732963	112732963	C	T	MERTK	c.1058C>T	NM_006343.3	NP_006334.2:p.(Ala353Val)	NC_000002.11:g.112732963C>T	VUS	2 labs	526ed69198
15:23891444 MAGEL2 AGCCTGGCGGATCACAGGTGGG>A	15	23891444	23891502	AGCCTGGCGGATCACAGGTGGG	A	MAGEL2	c.1425_1445del	NM_019066.5	NP_061939.3:p.(Val485_Pro491del)	NC_000015.9:g.23891482_23891502del	(Likely) benign	2 labs	5271c04f2f
2:179569436 TTN A>G	2	179569436	179569436	A	G	TTN	c.29763T>C	NM_001267550.2	NP_001254479.2:p.(Ile9921=)	NC_000002.11:g.179569436A>G	(Likely) benign	2 labs	527d51f6fb
9:135173685 SETX T>C	9	135173685	135173685	T	C	SETX	c.5563A>G	NM_015046.7	NP_055861.3:p.(Thr1855Ala)	NC_000009.11:g.135173685T>C	(Likely) benign	5 labs	527f317be0
14:23852453 MYH6 T>C	14	23852453	23852453	T	C	MYH6	c.5642A>G	NM_002471.4	NP_002462.2:p.(Lys1881Arg)	NC_000014.8:g.23852453T>C	VUS	2 labs	52854207a2
2:21225281 APOB C>T	2	21225281	21225281	C	T	APOB	c.13013G>A	NM_000384.3	NP_000375.3:p.(Ser4338Asn)	NC_000002.11:g.21225281C>T	(Likely) benign	2 labs	529017f18d
10:92675647 ANKRD1 T>A	10	92675647	92675647	T	A	ANKRD1	c.652-10A>T	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675647T>A	(Likely) benign	3 labs	5290a3c568
2:71906278 DYSF A>C	2	71906278	71906278	A	C	DYSF	c.5973A>C	NM_001130981.2	NP_001124453.1:p.(Pro1991=)	NC_000002.11:g.71906278A>C	(Likely) benign	2 labs	5292eae4e8
9:289590 DOCK8 CT>C	9	289590	289597	CT	C	DOCK8	c.404+16del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.289597del	(Likely) benign	2 labs	5296f3c705
10:92678914 ANKRD1 C>A	10	92678914	92678914	C	A	ANKRD1	c.319G>T	NM_014391.3	NP_055206.2:p.(Val107Leu)	NC_000010.10:g.92678914C>A	(Likely) benign	4 labs	52a65e14d7
6:7571598 DSP C>T	6	7571598	7571598	C	T	DSP	c.1702-18C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571598C>T	(Likely) benign	2 labs	52b51cf7bc
10:55600206 PCDH15 A>T	10	55600206	55600206	A	T	PCDH15	c.3872T>A	NM_001142771.2	NP_001136243.1:p.(Val1291Glu)	NC_000010.10:g.55600206A>T	VUS	2 labs	52b61969a4
2:189899798 COL5A2 C>T	2	189899798	189899798	C	T	COL5A2	c.4197G>A	NM_000393.5	NP_000384.2:p.(Gln1399=)	NC_000002.11:g.189899798C>T	(Likely) benign	2 labs	52b6a2e972
17:36892378 PCGF2 G>C	17	36892378	36892378	G	C	PCGF2	c.622C>G	NM_007144.3	NP_009075.1:p.(Leu208Val)	NC_000017.10:g.36892378G>C	VUS	2 labs	52b8eb0763
2:69553299 GFPT1 G>T	2	69553299	69553299	G	T	GFPT1	c.*22C>A	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553299G>T	(Likely) pathogenic	2 labs	52c2492f57
16:57786984 KATNB1 T>G	16	57786984	57786984	T	G	KATNB1	c.856-5T>G	NM_005886.3	NP_005877.2:p.?	NC_000016.9:g.57786984T>G	(Likely) benign	2 labs	52ca7deb0a
7:153750049 DPP6 G>A	7	153750049	153750049	G	A	DPP6	c.144G>A	NM_130797.4	NP_570629.2:p.(Ala48=)	NC_000007.13:g.153750049G>A	(Likely) benign	2 labs	52d630a031
3:100992404 IMPG2 GT>G	3	100992404	100992414	GT	G	IMPG2	c.828+20del	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100992414del	(Likely) benign	2 labs	52d7009808
2:121747823 GLI2 C>T	2	121747823	121747823	C	T	GLI2	c.4333C>T	NM_001371271.1	NP_001358200.1:p.(Leu1445Phe)	NC_000002.11:g.121747823C>T	(Likely) benign	2 labs	52db746949
16:31193948 FUS C>T	16	31193948	31193948	C	T	FUS	c.153C>T	NM_004960.4	NP_004951.1:p.(Gly51=)	NC_000016.9:g.31193948C>T	(Likely) benign	2 labs	5307ce6fe0
17:8133900 CTC1 C>T	17	8133900	8133900	C	T	CTC1	c.2739G>A	NM_025099.6	NP_079375.3:p.(Ala913=)	NC_000017.10:g.8133900C>T	(Likely) benign	2 labs	53118fc704
17:7907369 GUCY2D C>T	17	7907369	7907369	C	T	GUCY2D	c.921C>T	NM_000180.4	NP_000171.1:p.(Ala307=)	NC_000017.10:g.7907369C>T	(Likely) benign	2 labs	531ab8523f
16:2121870 TSC2 G>A	16	2121870	2121870	G	A	TSC2	c.2032G>A	NM_000548.5	NP_000539.2:p.(Ala678Thr)	NC_000016.9:g.2121870G>A	(Likely) benign	3 labs	532e2785a6
1:120480583 NOTCH2 G>A	1	120480583	120480583	G	A	NOTCH2	c.3234C>T	NM_024408.4	NP_077719.2:p.(Cys1078=)	NC_000001.10:g.120480583G>A	(Likely) benign	3 labs	5335713cc3
1:3329229 PRDM16 G>A	1	3329229	3329229	G	A	PRDM16	c.2468G>A	NM_022114.4	NP_071397.3:p.(Arg823His)	NC_000001.10:g.3329229G>A	(Likely) benign	2 labs	53405d8c66
2:198363546 HSPD1 G>C	2	198363546	198363546	G	C	HSPD1	c.27C>G	NM_002156.5	NP_002147.2:p.(Arg9=)	NC_000002.11:g.198363546G>C	(Likely) benign	4 labs	535cf674f2
2:179422458 TTN T>A	2	179422458	179422458	T	A	TTN	c.87623A>T	NM_001267550.2	NP_001254479.2:p.(Tyr29208Phe)	NC_000002.11:g.179422458T>A	VUS	2 labs	536f2fe3ba
9:137674572 COL5A1 C>T	9	137674572	137674572	C	T	COL5A1	c.2484+6C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674572C>T	(Likely) benign	2 labs	5372cdafbb
7:130044564 CEP41 T>A	7	130044564	130044564	T	A	CEP41	c.278-15A>T	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130044564T>A	(Likely) benign	3 labs	538a41165d
11:6652416 DCHS1 C>T	11	6652416	6652416	C	T	DCHS1	c.3798G>A	NM_003737.4	NP_003728.1:p.(Leu1266=)	NC_000011.9:g.6652416C>T	(Likely) benign	3 labs	538de88816
16:15818780 MYH11 C>T	16	15818780	15818780	C	T	MYH11	c.3949G>A	NM_001040113.2	NP_001035202.1:p.(Val1317Met)	NC_000016.9:g.15818780C>T	(Likely) benign	4 labs	539c83cd15
21:47409043 COL6A1 G>A	21	47409043	47409043	G	A	COL6A1	c.850G>A	NM_001848.3	NP_001839.2:p.(Gly284Arg)	NC_000021.8:g.47409043G>A	(Likely) pathogenic	2 labs	53a17d84d9
2:166172013 SCN2A A>G	2	166172013	166172013	A	G	SCN2A	c.1416A>G	NM_001040143.2	NP_001035233.1:p.(Arg472=)	NC_000002.11:g.166172013A>G	(Likely) benign	3 labs	53afb5c0ef
11:116661511 APOA5 T>C	11	116661511	116661511	T	C	APOA5	c.434A>G	NM_052968.5	NP_443200.2:p.(Gln145Arg)	NC_000011.9:g.116661511T>C	(Likely) benign	2 labs	53b0deeefa
8:10468017 RP1L1 G>A	8	10468017	10468017	G	A	RP1L1	c.3591C>T	NM_178857.6	NP_849188.4:p.(Ser1197=)	NC_000008.10:g.10468017G>A	(Likely) benign	2 labs	53b1a84a02
16:1612095 IFT140 A>G	16	1612095	1612095	A	G	IFT140	c.2090T>C	NM_014714.4	NP_055529.2:p.(Phe697Ser)	NC_000016.9:g.1612095A>G	VUS	3 labs	53b703c17a
8:94808039 TMEM67 CA>C	8	94808039	94808048	CA	C	TMEM67	c.1774-81del	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94808048del	(Likely) benign	2 labs	53b93c8fe2
X:38178081 RPGR C>A	X	38178081	38178081	C	A	RPGR	c.469+1G>T	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38178081C>A	(Likely) pathogenic	2 labs	53bb653e21
21:34014192 SYNJ1 G>A	21	34014192	34014192	G	A	SYNJ1	c.3705+14C>T	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34014192G>A	(Likely) benign	2 labs	53c3bf6044
X:49075803 CACNA1F G>A	X	49075803	49075803	G	A	CACNA1F	c.2683C>T	NM_005183.4	NP_005174.2:p.(Arg895Ter)	NC_000023.10:g.49075803G>A	(Likely) pathogenic	2 labs	53c59eac2b
18:19348657 MIB1 C>T	18	19348657	19348657	C	T	MIB1	c.475C>T	NM_020774.4	NP_065825.1:p.(Arg159Ter)	NC_000018.9:g.19348657C>T	VUS	2 labs	53cd0eec58
11:68125304 LRP5 C>T	11	68125304	68125304	C	T	LRP5	c.675C>T	NM_002335.4	NP_002326.2:p.(Asp225=)	NC_000011.9:g.68125304C>T	(Likely) benign	3 labs	53d1811873
5:172659941 NKX2-5 C>G	5	172659941	172659941	C	G	NKX2-5	c.606G>C	NM_004387.4	NP_004378.1:p.(Leu202=)	NC_000005.9:g.172659941C>G	(Likely) benign	2 labs	53d1cfbcb7
15:25602030 UBE3A G>A	15	25602030	25602030	G	A	UBE3A	c.1707C>T	NM_001354543.2	NP_001341472.1:p.(Tyr569=)	NC_000015.9:g.25602030G>A	(Likely) benign	3 labs	53d33a24fb
11:65635855 EFEMP2 G>A	11	65635855	65635855	G	A	EFEMP2	c.885C>T	NM_016938.5	NP_058634.4:p.(Ser295=)	NC_000011.9:g.65635855G>A	(Likely) benign	3 labs	53da8d6898
14:50616952 SOS2 G>T	14	50616952	50616952	G	T	SOS2	c.2162-4C>A	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50616952G>T	(Likely) benign	2 labs	53dc9c85f1
10:27323995 ANKRD26 C>T	10	27323995	27323995	C	T	ANKRD26	c.3384G>A	NM_014915.3	NP_055730.2:p.(Lys1128=)	NC_000010.10:g.27323995C>T	(Likely) benign	2 labs	53dd4e942c
2:179407603 TTN C>T	2	179407603	179407603	C	T	TTN	c.96978G>A	NM_001267550.2	NP_001254479.2:p.(Leu32326=)	NC_000002.11:g.179407603C>T	(Likely) benign	2 labs	53e7a73072
12:8801085 MFAP5 A>G	12	8801085	8801085	A	G	MFAP5	c.410-286T>C	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8801085A>G	(Likely) benign	2 labs	53ec1fa6b7
20:57484262 GNAS G>T	20	57484262	57484262	G	T	GNAS	c.2505G>T	NM_080425.4	NP_536350.2:p.(Pro835=)	NC_000020.10:g.57484262G>T	(Likely) benign	2 labs	53eea66982
20:62324292 RTEL1 C>T	20	62324292	62324292	C	T	RTEL1	c.2787C>T	NM_001283009.2	NP_001269938.1:p.(Ala929=)	NC_000020.10:g.62324292C>T	(Likely) benign	3 labs	53f9c53216
9:129377658 LMX1B A>G	9	129377658	129377658	A	G	LMX1B	c.140-4A>G	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129377658A>G	(Likely) benign	2 labs	53fa6c8961
17:37822084 TCAP C>T	17	37822084	37822084	C	T	TCAP	c.226C>T	NM_003673.4	NP_003664.1:p.(Arg76Cys)	NC_000017.10:g.37822084C>T	VUS	2 labs	53ffe88997
6:32041431 TNXB G>A	6	32041431	32041431	G	A	TNXB	c.4674C>T	NM_019105.8	NP_061978.6:p.(Ile1558=)	NC_000006.11:g.32041431G>A	(Likely) benign	2 labs	5400d391c0
1:12008130 PLOD1 G>C	1	12008130	12008130	G	C	PLOD1	c.168+6G>C	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12008130G>C	(Likely) benign	2 labs	5409a5afbb
16:23646689 PALB2 T>C	16	23646689	23646689	T	C	PALB2	c.1178A>G	NM_024675.4	NP_078951.2:p.(Lys393Arg)	NC_000016.9:g.23646689T>C	(Likely) benign	2 labs	541dff1807
7:6043659 PMS2 A>C	7	6043659	6043659	A	C	PMS2	c.194T>G	NM_000535.7	NP_000526.2:p.(Leu65Arg)	NC_000007.13:g.6043659A>C	VUS	2 labs	5421143c07
2:96920582 TMEM127 T>C	2	96920582	96920582	T	C	TMEM127	c.398A>G	NM_017849.4	NP_060319.1:p.(His133Arg)	NC_000002.11:g.96920582T>C	(Likely) pathogenic	3 labs	543ee436f0
1:94496666 ABCA4 G>A	1	94496666	94496666	G	A	ABCA4	c.4139C>T	NM_000350.3	NP_000341.2:p.(Pro1380Leu)	NC_000001.10:g.94496666G>A	(Likely) pathogenic	3 labs	544e804283
3:100438797 TFG C>CT	3	100438797	100438809	C	CT	TFG	c.185-10dup	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100438809dup	(Likely) benign	2 labs	54859a6389
12:968400 WNK1 C>A	12	968400	968400	C	A	WNK1	c.1401-11C>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.968400C>A	(Likely) benign	2 labs	548d863b96
14:95562577 DICER1 C>T	14	95562577	95562577	C	T	DICER1	c.4680G>A	NM_177438.3	NP_803187.1:p.(Ala1560=)	NC_000014.8:g.95562577C>T	(Likely) benign	3 labs	548edf6b2a
6:152590337 SYNE1 G>T	6	152590337	152590337	G	T	SYNE1	c.18658C>A	NM_182961.4	NP_892006.3:p.(Arg6220Ser)	NC_000006.11:g.152590337G>T	VUS	2 labs	54958f5136
1:47882221 FOXE3 G>A	1	47882221	47882221	G	A	FOXE3	c.234G>A	NM_012186.3	NP_036318.1:p.(Ala78=)	NC_000001.10:g.47882221G>A	(Likely) benign	2 labs	549f19e2bb
5:149509325 PDGFRB G>A	5	149509325	149509325	G	A	PDGFRB	c.1091C>T	NM_001355017.2	NP_001341946.1:p.(Pro364Leu)	NC_000005.9:g.149509325G>A	VUS	2 labs	54addad695
8:145738441 RECQL4 G>A	8	145738441	145738441	G	A	RECQL4	c.2544C>T	NM_004260.4	NP_004251.4:p.(Arg848=)	NC_000008.10:g.145738441G>A	(Likely) benign	3 labs	54b334b87f
X:77270204 ATP7A A>G	X	77270204	77270204	A	G	ATP7A	c.2452A>G	NM_000052.7	NP_000043.4:p.(Thr818Ala)	NC_000023.10:g.77270204A>G	(Likely) benign	2 labs	54b4a2e268
4:6303301 WFS1 G>C	4	6303301	6303301	G	C	WFS1	c.1779G>C	NM_006005.3	NP_005996.2:p.(Glu593Asp)	NC_000004.11:g.6303301G>C	(Likely) benign	2 labs	54ba6d912b
2:179413098 TTN C>T	2	179413098	179413098	C	T	TTN	c.93255G>A	NM_001267550.2	NP_001254479.2:p.(Pro31085=)	NC_000002.11:g.179413098C>T	(Likely) benign	3 labs	54c13ee405
2:44066221 ABCG8 G>C	2	44066221	44066221	G	C	ABCG8	c.29G>C	NM_022437.3	NP_071882.1:p.(Gly10Ala)	NC_000002.11:g.44066221G>C	(Likely) benign	2 labs	54c1a1f361
1:115236057 AMPD1 G>A	1	115236057	115236057	G	A	AMPD1	c.34C>T	NM_000036.3	NP_000027.3:p.(Gln12Ter)	NC_000001.10:g.115236057G>A	(Likely) benign	3 labs	54c4c40b25
7:73470719 ELN C>T	7	73470719	73470719	C	T	ELN	c.1269C>T	NM_000501.4	NP_000492.2:p.(Val423=)	NC_000007.13:g.73470719C>T	(Likely) benign	2 labs	54d6438d16
4:100515985 MTTP C>T	4	100515985	100515985	C	T	MTTP	c.854C>T	NM_000253.4	NP_000244.2:p.(Thr285Met)	NC_000004.11:g.100515985C>T	(Likely) benign	2 labs	54ebe74491
15:85400336 ALPK3 T>C	15	85400336	85400336	T	C	ALPK3	c.2367T>C	NM_020778.5	NP_065829.4:p.(Thr789=)	NC_000015.9:g.85400336T>C	(Likely) benign	3 labs	54ee4df23d
2:179393389 TTN C>G	2	179393389	179393389	C	G	TTN	c.107089G>C	NM_001267550.2	NP_001254479.2:p.(Glu35697Gln)	NC_000002.11:g.179393389C>G	(Likely) benign	2 labs	54ef611c88
9:137534094 COL5A1 C>T	9	137534094	137534094	C	T	COL5A1	c.61C>T	NM_000093.5	NP_000084.3:p.(Pro21Ser)	NC_000009.11:g.137534094C>T	(Likely) benign	3 labs	54f1f474ee
9:133945051 LAMC3 C>T	9	133945051	133945051	C	T	LAMC3	c.2891-8C>T	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133945051C>T	(Likely) benign	3 labs	550111dafc
11:47369191 MYBPC3 G>A	11	47369191	47369191	G	A	MYBPC3	c.851+11C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369191G>A	(Likely) benign	2 labs	551223eade
17:41244246 BRCA1 C>T	17	41244246	41244246	C	T	BRCA1	c.3302G>A	NM_007294.4	NP_009225.1:p.(Ser1101Asn)	NC_000017.10:g.41244246C>T	(Likely) benign	5 labs	5521d60158
15:89807836 FANCI C>T	15	89807836	89807836	C	T	FANCI	c.753C>T	NM_001113378.2	NP_001106849.1:p.(Asp251=)	NC_000015.9:g.89807836C>T	(Likely) benign	3 labs	55228c3778
5:148431777 SH3TC2 T>C	5	148431777	148431777	T	C	SH3TC2	c.79A>G	NM_024577.4	NP_078853.2:p.(Thr27Ala)	NC_000005.9:g.148431777T>C	(Likely) benign	2 labs	55294a7016
8:87680407 CNGB3 A>G	8	87680407	87680407	A	G	CNGB3	c.494-11T>C	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87680407A>G	(Likely) benign	2 labs	552a309832
3:58080583 FLNB A>G	3	58080583	58080583	A	G	FLNB	c.808A>G	NM_001164317.2	NP_001157789.1:p.(Met270Val)	NC_000003.11:g.58080583A>G	(Likely) benign	3 labs	55321afa1b
17:7358597 CHRNB1 C>G	17	7358597	7358597	C	G	CHRNB1	c.1045-6C>G	NM_000747.3	NP_000738.2:p.?	NC_000017.10:g.7358597C>G	(Likely) benign	2 labs	55336be0a6
10:75834615 VCL G>A	10	75834615	75834615	G	A	VCL	c.737G>A	NM_014000.3	NP_054706.1:p.(Arg246His)	NC_000010.10:g.75834615G>A	VUS	2 labs	554405ccb3
13:114434205 GRK1 C>T	13	114434205	114434205	C	T	GRK1	c.1083C>T	NM_002929.3	NP_002920.1:p.(Pro361=)	NC_000013.10:g.114434205C>T	(Likely) benign	2 labs	55376f1b36
17:7578407 TP53 G>A	17	7578407	7578407	G	A	TP53	c.523C>T	NM_000546.6	NP_000537.3:p.(Arg175Cys)	NC_000017.10:g.7578407G>A	VUS	2 labs	5549e51e07
2:179594214 TTN C>T	2	179594214	179594214	C	T	TTN	c.18669G>A	NM_001267550.2	NP_001254479.2:p.(Thr6223=)	NC_000002.11:g.179594214C>T	(Likely) benign	3 labs	5551fb73c0
19:39009878 RYR1 G>A	19	39009878	39009878	G	A	RYR1	c.10043G>A	NM_000540.3	NP_000531.2:p.(Arg3348His)	NC_000019.9:g.39009878G>A	VUS	2 labs	55527b6427
8:61707572 CHD7 T>C	8	61707572	61707572	T	C	CHD7	c.2124T>C	NM_017780.4	NP_060250.2:p.(Ser708=)	NC_000008.10:g.61707572T>C	(Likely) benign	3 labs	55540dc027
17:29556177 NF1 G>A	17	29556177	29556177	G	A	NF1	c.2544G>A	NM_001042492.3	NP_001035957.1:p.(Gly848=)	NC_000017.10:g.29556177G>A	(Likely) benign	2 labs	5556f030d1
19:40901011 PRX G>C	19	40901011	40901011	G	C	PRX	c.3248C>G	NM_181882.3	NP_870998.2:p.(Pro1083Arg)	NC_000019.9:g.40901011G>C	(Likely) benign	2 labs	5567a3c8b7
16:15814921 MYH11 C>T	16	15814921	15814921	C	T	MYH11	c.4600-13G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15814921C>T	(Likely) benign	2 labs	5568aca27d
1:11076886 TARDBP G>A	1	11076886	11076886	G	A	TARDBP	c.239-15G>A	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11076886G>A	(Likely) benign	2 labs	556a14efbc
2:179476359 TTN C>T	2	179476359	179476359	C	T	TTN	c.50597G>A	NM_001267550.2	NP_001254479.2:p.(Arg16866Lys)	NC_000002.11:g.179476359C>T	VUS	3 labs	55704517d3
14:74988601 LTBP2 G>A	14	74988601	74988601	G	A	LTBP2	c.2788+13C>T	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74988601G>A	(Likely) benign	2 labs	55802fc512
3:123427615 MYLK C>T	3	123427615	123427615	C	T	MYLK	c.2070G>A	NM_053025.4	NP_444253.3:p.(Thr690=)	NC_000003.11:g.123427615C>T	(Likely) benign	2 labs	55807a1984
3:148858987 HPS3 CT>C	3	148858987	148859000	CT	C	HPS3	c.884+25del	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148859000del	(Likely) benign	2 labs	5584ee1fd2
1:43223508 P3H1 G>A	1	43223508	43223508	G	A	P3H1	c.1026C>T	NM_022356.4	NP_071751.3:p.(Ala342=)	NC_000001.10:g.43223508G>A	(Likely) benign	2 labs	5587830766
7:91646372 AKAP9 G>A	7	91646372	91646372	G	A	AKAP9	c.3793G>A	NM_005751.5	NP_005742.4:p.(Glu1265Lys)	NC_000007.13:g.91646372G>A	VUS	2 labs	558ca20743
8:10470654 RP1L1 G>A	8	10470654	10470654	G	A	RP1L1	c.954C>T	NM_178857.6	NP_849188.4:p.(Asp318=)	NC_000008.10:g.10470654G>A	(Likely) benign	2 labs	559021b12e
19:13318672 CACNA1A CCTGCTG>C	19	13318672	13318712	CCTGCTG	C	CACNA1A	c.6988_6993del	NM_023035.3	NP_075461.2:p.(Gln2330_Gln2331del)	NC_000019.9:g.13318707_13318712del	(Likely) benign	5 labs	55a5d78cb6
8:100844603 VPS13B C>T	8	100844603	100844603	C	T	VPS13B	c.9412C>T	NM_017890.5	NP_060360.3:p.(Arg3138Cys)	NC_000008.10:g.100844603C>T	(Likely) benign	2 labs	55a2d4b1cf
1:196659255 CFH C>T	1	196659255	196659255	C	T	CFH	c.1222C>T	NM_000186.4	NP_000177.2:p.(Gln408Ter)	NC_000001.10:g.196659255C>T	(Likely) pathogenic	2 labs	55a7ad3cd4
2:215617175 BARD1 G>A	2	215617175	215617175	G	A	BARD1	c.1673C>T	NM_000465.4	NP_000456.2:p.(Ser558Leu)	NC_000002.11:g.215617175G>A	VUS	2 labs	55b8073aa7
10:94390010 KIF11 T>G	10	94390010	94390010	T	G	KIF11	c.1383T>G	NM_004523.4	NP_004514.2:p.(Leu461=)	NC_000010.10:g.94390010T>G	(Likely) benign	2 labs	55bc84408e
15:73635773 HCN4 G>A	15	73635773	73635773	G	A	HCN4	c.1162C>T	NM_005477.3	NP_005468.1:p.(Leu388=)	NC_000015.9:g.73635773G>A	(Likely) benign	2 labs	55bd22c38d
8:10470310 RP1L1 C>T	8	10470310	10470310	C	T	RP1L1	c.1298G>A	NM_178857.6	NP_849188.4:p.(Arg433His)	NC_000008.10:g.10470310C>T	VUS	2 labs	55bf0cbf4f
15:48729261 FBN1 G>A	15	48729261	48729261	G	A	FBN1	c.6393C>T	NM_000138.5	NP_000129.3:p.(Cys2131=)	NC_000015.9:g.48729261G>A	(Likely) benign	3 labs	55c2673f47
12:33030887 PKP2 G>A	12	33030887	33030887	G	A	PKP2	c.927C>T	NM_004572.4	NP_004563.2:p.(Ala309=)	NC_000012.11:g.33030887G>A	(Likely) benign	2 labs	55c277ed15
8:42717011 RNF170 G>GA	8	42717011	42717020	G	GA	RNF170	c.397-14dup	NM_001160223.2	NP_001153695.1:p.?	NC_000008.10:g.42717020dup	(Likely) benign	2 labs	55c50f6d3c
20:10639385 JAG1 A>G	20	10639385	10639385	A	G	JAG1	c.440-15T>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639385A>G	(Likely) benign	2 labs	55c7534c8c
11:9817415 SBF2 T>C	11	9817415	9817415	T	C	SBF2	c.4533A>G	NM_030962.4	NP_112224.1:p.(Thr1511=)	NC_000011.9:g.9817415T>C	(Likely) benign	2 labs	55ca9109c9
1:237948286 RYR2 A>G	1	237948286	237948286	A	G	RYR2	c.13260+14A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237948286A>G	(Likely) benign	4 labs	55cb76cf0d
9:135782112 TSC1 C>T	9	135782112	135782112	C	T	TSC1	c.1438+6G>A	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135782112C>T	(Likely) benign	3 labs	55d380b27c
11:62383714 B3GAT3 T>TC	11	62383714	62383715	T	TC	B3GAT3	c.910-3_910-2insG	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383714_62383715insC	(Likely) benign	2 labs	55d7d6cc87
19:55665578 TNNI3 G>A	19	55665578	55665578	G	A	TNNI3	c.373-4C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55665578G>A	(Likely) benign	4 labs	55dd159632
9:12702386 TYRP1 C>T	9	12702386	12702386	C	T	TYRP1	c.1029C>T	NM_000550.3	NP_000541.1:p.(Asp343=)	NC_000009.11:g.12702386C>T	(Likely) benign	2 labs	55ea2a1b40
20:34057799 CEP250 A>G	20	34057799	34057799	A	G	CEP250	c.936A>G	NM_007186.6	NP_009117.2:p.(Thr312=)	NC_000020.10:g.34057799A>G	(Likely) benign	2 labs	55f2c598d5
17:39977902 FKBP10 C>G	17	39977902	39977902	C	G	FKBP10	c.1400-4C>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39977902C>G	(Likely) benign	2 labs	55f45d1900
5:110092412 SLC25A46 G>A	5	110092412	110092412	G	A	SLC25A46	c.631G>A	NM_138773.4	NP_620128.1:p.(Val211Met)	NC_000005.9:g.110092412G>A	(Likely) benign	2 labs	55f921854a
1:160318835 NCSTN G>A	1	160318835	160318835	G	A	NCSTN	c.237G>A	NM_015331.3	NP_056146.1:p.(Glu79=)	NC_000001.10:g.160318835G>A	(Likely) benign	2 labs	560c6de98f
9:108536204 TMEM38B T>C	9	108536204	108536204	T	C	TMEM38B	c.719T>C	NM_018112.3	NP_060582.1:p.(Leu240Ser)	NC_000009.11:g.108536204T>C	VUS	2 labs	561281aeac
12:110231722 TRPV4 G>A	12	110231722	110231722	G	A	TRPV4	c.1584+13C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110231722G>A	(Likely) benign	3 labs	5614687491
9:396771 DOCK8 A>G	9	396771	396771	A	G	DOCK8	c.2971-14A>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.396771A>G	(Likely) benign	2 labs	561d7f3071
7:21827060 DNAH11 G>C	7	21827060	21827060	G	C	DNAH11	c.9783G>C	NM_001277115.2	NP_001264044.1:p.(Glu3261Asp)	NC_000007.13:g.21827060G>C	VUS	2 labs	562e6973cd
6:100988266 ASCC3 G>GA	6	100988266	100988279	G	GA	ASCC3	c.5551-4dup	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.100988279dup	(Likely) benign	2 labs	562f571902
5:73207339 ARHGEF28 C>G	5	73207339	73207339	C	G	ARHGEF28	c.4887C>G	NM_001080479.3	NP_001073948.2:p.(Ala1629=)	NC_000005.9:g.73207339C>G	(Likely) benign	2 labs	56331258a2
21:35742947 KCNE2 T>C	21	35742947	35742947	T	C	KCNE2	c.170T>C	NM_172201.2	NP_751951.1:p.(Ile57Thr)	NC_000021.8:g.35742947T>C	(Likely) benign	3 labs	563fd32f44
5:1214063 SLC6A19 C>T	5	1214063	1214063	C	T	SLC6A19	c.775-5C>T	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1214063C>T	(Likely) benign	3 labs	5656beb625
2:202582914 ALS2 T>C	2	202582914	202582914	T	C	ALS2	c.3722A>G	NM_020919.4	NP_065970.2:p.(Asn1241Ser)	NC_000002.11:g.202582914T>C	(Likely) benign	2 labs	564e28c1db
19:2110185 AP3D1 T>G	19	2110185	2110185	T	G	AP3D1	c.3214A>C	NM_001261826.3	NP_001248755.1:p.(Ser1072Arg)	NC_000019.9:g.2110185T>G	VUS	2 labs	5653a5effa
X:77268390 ATP7A G>C	X	77268390	77268390	G	C	ATP7A	c.2187G>C	NM_000052.7	NP_000043.4:p.(Trp729Cys)	NC_000023.10:g.77268390G>C	VUS	2 labs	565e58d8aa
16:81390486 GAN A>G	16	81390486	81390486	A	G	GAN	c.730A>G	NM_022041.4	NP_071324.1:p.(Ile244Val)	NC_000016.9:g.81390486A>G	(Likely) benign	2 labs	565fbeb336
17:78157740 CARD14 G>A	17	78157740	78157740	G	A	CARD14	c.378G>A	NM_024110.4	NP_077015.2:p.(Glu126=)	NC_000017.10:g.78157740G>A	(Likely) benign	3 labs	566bbc8ccc
16:81922781 PLCG2 A>T	16	81922781	81922781	A	T	PLCG2	c.770A>T	NM_002661.5	NP_002652.2:p.(His257Leu)	NC_000016.9:g.81922781A>T	(Likely) benign	3 labs	566f096bf6
1:114443859 AP4B1 G>A	1	114443859	114443859	G	A	AP4B1	c.616C>T	NM_006594.5	NP_006585.2:p.(Arg206Ter)	NC_000001.10:g.114443859G>A	(Likely) pathogenic	2 labs	567e174c65
17:40489892 STAT3 AACTCCTTGACCTGAGGGAAT>A	17	40489892	40489958	AACTCCTTGACCTGAGGGAAT	A	STAT3	c.551-37_551-18del	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40489939_40489958del	(Likely) benign	2 labs	5680053c53
4:184585165 TRAPPC11 G>C	4	184585165	184585165	G	C	TRAPPC11	c.145G>C	NM_021942.6	NP_068761.4:p.(Val49Leu)	NC_000004.11:g.184585165G>C	(Likely) benign	2 labs	56a036a0e5
10:75830566 VCL C>T	10	75830566	75830566	C	T	VCL	c.378C>T	NM_014000.3	NP_054706.1:p.(Phe126=)	NC_000010.10:g.75830566C>T	(Likely) benign	2 labs	56a5b87294
2:179585790 TTN A>G	2	179585790	179585790	A	G	TTN	c.22956T>C	NM_001267550.2	NP_001254479.2:p.(Ser7652=)	NC_000002.11:g.179585790A>G	(Likely) benign	2 labs	56ad3695c9
6:123577062 TRDN C>T	6	123577062	123577062	C	T	TRDN	c.1871-15G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123577062C>T	(Likely) benign	2 labs	56b0b2896f
3:30664768 TGFBR2 A>C	3	30664768	30664768	A	C	TGFBR2	c.169+3A>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30664768A>C	(Likely) benign	2 labs	56b269f23e
3:38739845 SCN10A A>G	3	38739845	38739845	A	G	SCN10A	c.4866T>C	NM_006514.4	NP_006505.4:p.(Ser1622=)	NC_000003.11:g.38739845A>G	(Likely) benign	2 labs	56b2ec9f5c
9:111656228 ELP1 T>A	9	111656228	111656228	T	A	ELP1	c.2855A>T	NM_003640.5	NP_003631.2:p.(Lys952Ile)	NC_000009.11:g.111656228T>A	(Likely) benign	2 labs	56b3ca41fa
5:180043439 FLT4 G>A	5	180043439	180043439	G	A	FLT4	c.3147C>T	NM_182925.5	NP_891555.2:p.(Asp1049=)	NC_000005.9:g.180043439G>A	(Likely) benign	2 labs	56beec83e0
16:16276345 ABCC6 C>T	16	16276345	16276345	C	T	ABCC6	c.2171G>A	NM_001171.6	NP_001162.5:p.(Arg724Lys)	NC_000016.9:g.16276345C>T	(Likely) benign	3 labs	56c036428a
7:103202406 RELN CAAA>C	7	103202406	103202425	CAAA	C	RELN	c.5211-9_5211-7del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202423_103202425del	(Likely) benign	3 labs	56c77da119
4:88929173 PKD2 CGAG>C	4	88929173	88929192	CGAG	C	PKD2	c.305_307del	NM_000297.4	NP_000288.1:p.(Glu102del)	NC_000004.11:g.88929190_88929192del	(Likely) benign	3 labs	56c89904ac
4:187131663 CYP4V2 G>A	4	187131663	187131663	G	A	CYP4V2	c.1446G>A	NM_207352.4	NP_997235.3:p.(Ser482=)	NC_000004.11:g.187131663G>A	(Likely) benign	2 labs	56ce9dda9b
2:179456220 TTN C>T	2	179456220	179456220	C	T	TTN	c.60232G>A	NM_001267550.2	NP_001254479.2:p.(Val20078Met)	NC_000002.11:g.179456220C>T	(Likely) benign	5 labs	56d05cfc49
3:8775589 CAV3 C>T	3	8775589	8775589	C	T	CAV3	c.27C>T	NM_033337.3	NP_203123.1:p.(Leu9=)	NC_000003.11:g.8775589C>T	(Likely) benign	2 labs	56d1461b5f
15:85400499 ALPK3 C>T	15	85400499	85400499	C	T	ALPK3	c.2530C>T	NM_020778.5	NP_065829.4:p.(Pro844Ser)	NC_000015.9:g.85400499C>T	(Likely) benign	3 labs	56d2774cc4
1:94514475 ABCA4 C>T	1	94514475	94514475	C	T	ABCA4	c.2692G>A	NM_000350.3	NP_000341.2:p.(Glu898Lys)	NC_000001.10:g.94514475C>T	VUS	2 labs	56e033522c
1:173797451 DARS2 T>C	1	173797451	173797451	T	C	DARS2	c.228-20T>C	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797451T>C	(Likely) benign	2 labs	56e3f0be81
5:37227905 CPLANE1 G>A	5	37227905	37227905	G	A	CPLANE1	c.1136C>T	NM_023073.4	NP_075561.3:p.(Thr379Met)	NC_000005.9:g.37227905G>A	(Likely) benign	2 labs	56e70b9ca1
2:170338758 BBS5 T>C	2	170338758	170338758	T	C	BBS5	c.60-3T>C	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170338758T>C	(Likely) benign	2 labs	5701021732
7:33296960 BBS9 C>T	7	33296960	33296960	C	T	BBS9	c.555C>T	NM_198428.3	NP_940820.1:p.(Ala185=)	NC_000007.13:g.33296960C>T	(Likely) benign	3 labs	5702905739
11:31822408 PAX6 CAAATCAAACCA>C	11	31822408	31822432	CAAATCAAACCA	C	PAX6	c.351-15_351-5del	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31822422_31822432del	(Likely) benign	3 labs	5704b6b171
4:3494559 DOK7 C>T	4	3494559	3494559	C	T	DOK7	c.846C>T	NM_173660.5	NP_775931.3:p.(Thr282=)	NC_000004.11:g.3494559C>T	(Likely) benign	2 labs	5705ae188c
10:68526055 CTNNA3 C>T	10	68526055	68526055	C	T	CTNNA3	c.1248G>A	NM_013266.4	NP_037398.2:p.(Ala416=)	NC_000010.10:g.68526055C>T	(Likely) benign	3 labs	5714540bc4
7:103292176 RELN G>A	7	103292176	103292176	G	A	RELN	c.1824C>T	NM_005045.4	NP_005036.2:p.(Cys608=)	NC_000007.13:g.103292176G>A	(Likely) benign	2 labs	5715169c52
2:179393690 TTN T>A	2	179393690	179393690	T	A	TTN	c.106788A>T	NM_001267550.2	NP_001254479.2:p.(Thr35596=)	NC_000002.11:g.179393690T>A	(Likely) benign	2 labs	571c98b978
14:88892932 SPATA7 C>T	14	88892932	88892932	C	T	SPATA7	c.729C>T	NM_018418.5	NP_060888.2:p.(Arg243=)	NC_000014.8:g.88892932C>T	(Likely) benign	2 labs	57232b5a08
14:64591790 SYNE2 C>G	14	64591790	64591790	C	G	SYNE2	c.13423-7C>G	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64591790C>G	(Likely) benign	2 labs	57239e26ee
5:37022190 NIPBL G>A	5	37022190	37022190	G	A	NIPBL	c.5366G>A	NM_015384.5	NP_056199.2:p.(Arg1789Gln)	NC_000005.9:g.37022190G>A	(Likely) pathogenic	2 labs	5725822826
6:135763844 AHI1 A>G	6	135763844	135763844	A	G	AHI1	c.1788T>C	NM_001350503.2	NP_001337432.1:p.(Arg596=)	NC_000006.11:g.135763844A>G	(Likely) benign	2 labs	572ef39011
1:201333408 TNNT2 G>A	1	201333408	201333408	G	A	TNNT2	c.459+18C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201333408G>A	(Likely) benign	2 labs	57380ec1d6
3:123419062 MYLK T>C	3	123419062	123419062	T	C	MYLK	c.3253A>G	NM_053025.4	NP_444253.3:p.(Thr1085Ala)	NC_000003.11:g.123419062T>C	(Likely) benign	2 labs	573b82639e
X:153588150 FLNA T>C	X	153588150	153588150	T	C	FLNA	c.3929A>G	NM_001110556.2	NP_001104026.1:p.(Gln1310Arg)	NC_000023.10:g.153588150T>C	VUS	2 labs	575a6cb0b4
5:149456964 CSF1R T>A	5	149456964	149456964	T	A	CSF1R	c.764A>T	NM_005211.4	NP_005202.2:p.(Asn255Ile)	NC_000005.9:g.149456964T>A	(Likely) benign	2 labs	573e3883a1
2:15679410 NBAS G>A	2	15679410	15679410	G	A	NBAS	c.450C>T	NM_015909.4	NP_056993.2:p.(Ala150=)	NC_000002.11:g.15679410G>A	(Likely) benign	3 labs	573f910b08
5:138253420 CTNNA1 A>G	5	138253420	138253420	A	G	CTNNA1	c.1390-11A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138253420A>G	(Likely) benign	2 labs	57473e7b64
11:103091449 DYNC2H1 A>G	11	103091449	103091449	A	G	DYNC2H1	c.9044A>G	NM_001080463.2	NP_001073932.1:p.(Asp3015Gly)	NC_000011.9:g.103091449A>G	(Likely) pathogenic	3 labs	574d4c98e9
15:85383342 ALPK3 G>A	15	85383342	85383342	G	A	ALPK3	c.832G>A	NM_020778.5	NP_065829.4:p.(Gly278Arg)	NC_000015.9:g.85383342G>A	VUS	2 labs	5750beeb9d
2:179401217 TTN A>G	2	179401217	179401217	A	G	TTN	c.100257T>C	NM_001267550.2	NP_001254479.2:p.(Asp33419=)	NC_000002.11:g.179401217A>G	(Likely) benign	2 labs	5757df2e15
X:77245127 ATP7A G>A	X	77245127	77245127	G	A	ATP7A	c.1009G>A	NM_000052.7	NP_000043.4:p.(Ala337Thr)	NC_000023.10:g.77245127G>A	(Likely) benign	4 labs	575866f2cf
9:79853080 VPS13A T>C	9	79853080	79853080	T	C	VPS13A	c.1758T>C	NM_033305.3	NP_150648.2:p.(Ala586=)	NC_000009.11:g.79853080T>C	(Likely) benign	3 labs	575ae3a14e
8:11614769 GATA4 C>T	8	11614769	11614769	C	T	GATA4	c.1149+177C>T	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11614769C>T	(Likely) benign	4 labs	576a68544d
16:23637607 PALB2 C>G	16	23637607	23637607	C	G	PALB2	c.2698G>C	NM_024675.4	NP_078951.2:p.(Ala900Pro)	NC_000016.9:g.23637607C>G	(Likely) benign	2 labs	5772ef862e
19:34003597 PEPD G>A	19	34003597	34003597	G	A	PEPD	c.103C>T	NM_000285.4	NP_000276.2:p.(Arg35Trp)	NC_000019.9:g.34003597G>A	VUS	2 labs	577c7c94a6
2:179422624 TTN C>T	2	179422624	179422624	C	T	TTN	c.79753G>A	NM_133378.4	NP_596869.4:p.(Glu26585Lys)	NC_000002.11:g.179422624C>T	VUS	2 labs	578176592f
3:38768300 SCN10A T>C	3	38768300	38768300	T	C	SCN10A	c.2884A>G	NM_006514.4	NP_006505.4:p.(Ile962Val)	NC_000003.11:g.38768300T>C	(Likely) benign	2 labs	57826fd2c6
17:41244781 BRCA1 CT>C	17	41244781	41244782	CT	C	BRCA1	c.2766del	NM_007294.4	NP_009225.1:p.(Val923LeufsTer77)	NC_000017.10:g.41244782del	(Likely) pathogenic	3 labs	5794d47571
2:179566802 TTN T>TAA	2	179566802	179566812	T	TAA	TTN	c.30512-11_30512-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566811_179566812dup	(Likely) benign	2 labs	5792e17749
11:2610011 KCNQ1 C>G	11	2610011	2610011	C	G	KCNQ1	c.1320C>G	NM_000218.3	NP_000209.2:p.(Val440=)	NC_000011.9:g.2610011C>G	(Likely) benign	3 labs	579aa03833
X:108638614 GUCY2F C>T	X	108638614	108638614	C	T	GUCY2F	c.2380G>A	NM_001522.3	NP_001513.2:p.(Glu794Lys)	NC_000023.10:g.108638614C>T	(Likely) benign	3 labs	57a5d844c2
1:5969225 NPHP4 G>C	1	5969225	5969225	G	C	NPHP4	c.1490C>G	NM_015102.5	NP_055917.1:p.(Pro497Arg)	NC_000001.10:g.5969225G>C	(Likely) benign	2 labs	57ae77f4ea
8:61761619 CHD7 T>C	8	61761619	61761619	T	C	CHD7	c.5310T>C	NM_017780.4	NP_060250.2:p.(Asp1770=)	NC_000008.10:g.61761619T>C	(Likely) benign	2 labs	57b1db72f8
5:127613566 FBN2 C>T	5	127613566	127613566	C	T	FBN2	c.7471+6G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127613566C>T	(Likely) benign	2 labs	57b4e6e194
10:88478582 LDB3 C>T	10	88478582	88478582	C	T	LDB3	c.1971C>T	NM_001171610.2	NP_001165081.1:p.(Asp657=)	NC_000010.10:g.88478582C>T	(Likely) benign	3 labs	57b8dbd79f
2:179633644 TTN G>C	2	179633644	179633644	G	C	TTN	c.8919C>G	NM_001267550.2	NP_001254479.2:p.(Ser2973=)	NC_000002.11:g.179633644G>C	(Likely) benign	4 labs	57c7d95c22
4:114208877 ANK2 C>T	4	114208877	114208877	C	T	ANK2	c.2178+18C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114208877C>T	(Likely) benign	2 labs	57cacf890e
3:30713659 TGFBR2 C>T	3	30713659	30713659	C	T	TGFBR2	c.1059C>T	NM_001024847.2	NP_001020018.1:p.(His353=)	NC_000003.11:g.30713659C>T	(Likely) benign	2 labs	57cf97a583
6:149700388 TAB2 ACT>A	6	149700388	149700392	ACT	A	TAB2	c.1340_1341del	NM_015093.6	NP_055908.1:p.(Ser447CysfsTer25)	NC_000006.11:g.149700391_149700392del	(Likely) pathogenic	2 labs	57d9372984
3:38798632 SCN10A A>G	3	38798632	38798632	A	G	SCN10A	c.969T>C	NM_006514.4	NP_006505.4:p.(Tyr323=)	NC_000003.11:g.38798632A>G	(Likely) benign	2 labs	57dd889dbd
X:12736882 FRMPD4 C>A	X	12736882	12736882	C	A	FRMPD4	c.3937C>A	NM_014728.3	NP_055543.2:p.(Arg1313=)	NC_000023.10:g.12736882C>A	(Likely) benign	2 labs	57de754599
2:179432024 TTN C>A	2	179432024	179432024	C	A	TTN	c.78835G>T	NM_001267550.2	NP_001254479.2:p.(Val26279Leu)	NC_000002.11:g.179432024C>A	VUS	2 labs	57df6d12aa
7:6027130 PMS2 C>T	7	6027130	6027130	C	T	PMS2	c.1266G>A	NM_000535.7	NP_000526.2:p.(Glu422=)	NC_000007.13:g.6027130C>T	(Likely) benign	4 labs	57e57427b9
16:919894 LMF1 C>T	16	919894	919894	C	T	LMF1	c.1405G>A	NM_022773.4	NP_073610.2:p.(Ala469Thr)	NC_000016.9:g.919894C>T	VUS	3 labs	57e6869495
9:134386781 POMT1 G>A	9	134386781	134386781	G	A	POMT1	c.913G>A	NM_001136113.2	NP_001129585.1:p.(Val305Ile)	NC_000009.11:g.134386781G>A	(Likely) benign	3 labs	57ed910f9e
16:23641218 PALB2 G>A	16	23641218	23641218	G	A	PALB2	c.2257C>T	NM_024675.4	NP_078951.2:p.(Arg753Ter)	NC_000016.9:g.23641218G>A	(Likely) pathogenic	3 labs	57ee8ebbfa
11:108165730 ATM G>T	11	108165730	108165730	G	T	ATM	c.4853G>T	NM_000051.4	NP_000042.3:p.(Arg1618Leu)	NC_000011.9:g.108165730G>T	VUS	2 labs	57f23c1b52
15:28457699 HERC2 G>C	15	28457699	28457699	G	C	HERC2	c.6817C>G	NM_004667.6	NP_004658.3:p.(Leu2273Val)	NC_000015.9:g.28457699G>C	VUS	2 labs	57f95bc7f6
7:73467650 ELN C>CTG	7	73467650	73467689	C	CTG	ELN	c.1096+49_1096+50dup	NM_001278939.2	NP_001265868.1:p.?	NC_000007.13:g.73467688_73467689dup	(Likely) benign	3 labs	57faa0c8b7
1:237936939 RYR2 G>A	1	237936939	237936939	G	A	RYR2	c.11766G>A	NM_001035.3	NP_001026.2:p.(Glu3922=)	NC_000001.10:g.237936939G>A	(Likely) benign	3 labs	58149e3970
17:37822128 TCAP G>A	17	37822128	37822128	G	A	TCAP	c.270G>A	NM_003673.4	NP_003664.1:p.(Pro90=)	NC_000017.10:g.37822128G>A	(Likely) benign	2 labs	5822d673a3
2:47388990 CALM2 T>C	2	47388990	47388990	T	C	CALM2	c.293A>G	NM_001743.6	NP_001734.1:p.(Asn98Ser)	NC_000002.11:g.47388990T>C	(Likely) pathogenic	2 labs	582983343c
1:33245085 YARS1 C>T	1	33245085	33245085	C	T	YARS1	c.1374G>A	NM_003680.4	NP_003671.1:p.(Pro458=)	NC_000001.10:g.33245085C>T	(Likely) benign	2 labs	58435e7976
22:29877150 NEFH G>A	22	29877150	29877150	G	A	NEFH	c.883+16G>A	NM_021076.4	NP_066554.2:p.?	NC_000022.10:g.29877150G>A	(Likely) benign	2 labs	58460b4b9b
14:51080039 ATL1 T>C	14	51080039	51080039	T	C	ATL1	c.693T>C	NM_001127713.1	NP_001121185.1:p.(Gly231=)	NC_000014.8:g.51080039T>C	(Likely) benign	2 labs	5848a044b9
1:220101133 SLC30A10 C>T	1	220101133	220101133	C	T	SLC30A10	c.640+10G>A	NM_018713.3	NP_061183.2:p.?	NC_000001.10:g.220101133C>T	(Likely) benign	2 labs	584f0dbc58
6:31916713 CFB C>T	6	31916713	31916713	C	T	CFB	c.1143C>T	NM_001710.6	NP_001701.2:p.(Arg381=)	NC_000006.11:g.31916713C>T	(Likely) benign	4 labs	5851313221
7:91671477 AKAP9 C>T	7	91671477	91671477	C	T	AKAP9	c.5035C>T	NM_005751.5	NP_005742.4:p.(Arg1679Cys)	NC_000007.13:g.91671477C>T	(Likely) benign	2 labs	585a435e2c
11:108192111 ATM T>C	11	108192111	108192111	T	C	ATM	c.6536T>C	NM_000051.4	NP_000042.3:p.(Ile2179Thr)	NC_000011.9:g.108192111T>C	VUS	2 labs	585ba788e0
6:33141526 COL11A2 TG>T	6	33141526	33141532	TG	T	COL11A2	c.2584-5del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33141532del	(Likely) benign	2 labs	585f738909
12:936349 WNK1 C>T	12	936349	936349	C	T	WNK1	c.1074C>T	NM_001184985.2	NP_001171914.1:p.(Thr358=)	NC_000012.11:g.936349C>T	(Likely) benign	3 labs	58624f6a4d
7:94056930 COL1A2 C>T	7	94056930	94056930	C	T	COL1A2	c.3268-9C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94056930C>T	(Likely) benign	2 labs	586a1d367b
12:32993979 PKP2 G>A	12	32993979	32993979	G	A	PKP2	c.1671C>T	NM_004572.4	NP_004563.2:p.(Asn557=)	NC_000012.11:g.32993979G>A	(Likely) benign	3 labs	5875c17089
5:176942945 DDX41 T>TCATC	5	176942945	176942949	T	TCATC	DDX41	c.415_418dup	NM_016222.4	NP_057306.2:p.(Asp140GlyfsTer2)	NC_000005.9:g.176942946_176942949dup	(Likely) pathogenic	4 labs	588540212f
19:46032673 OPA3 C>T	19	46032673	46032673	C	T	OPA3	c.184G>A	NM_001017989.3	NP_001017989.2:p.(Gly62Ser)	NC_000019.9:g.46032673C>T	(Likely) benign	2 labs	588b39a3da
15:44914544 SPG11 A>C	15	44914544	44914544	A	C	SPG11	c.2318T>G	NM_025137.4	NP_079413.3:p.(Val773Gly)	NC_000015.9:g.44914544A>C	VUS	3 labs	588d5e3b79
7:116409675 MET CT>C	7	116409675	116409690	CT	C	MET	c.2638-9del	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116409690del	(Likely) benign	3 labs	588f53c27e
2:71825782 DYSF C>T	2	71825782	71825782	C	T	DYSF	c.3660C>T	NM_001130981.2	NP_001124453.1:p.(Leu1220=)	NC_000002.11:g.71825782C>T	(Likely) benign	2 labs	58a0b70bd9
1:235944245 LYST T>C	1	235944245	235944245	T	C	LYST	c.5134A>G	NM_001301365.1	NP_001288294.1:p.(Ile1712Val)	NC_000001.10:g.235944245T>C	(Likely) benign	2 labs	58a49f53f0
6:88258318 RARS2 T>C	6	88258318	88258318	T	C	RARS2	c.442A>G	NM_020320.5	NP_064716.2:p.(Thr148Ala)	NC_000006.11:g.88258318T>C	VUS	4 labs	58adbd27bb
11:68216478 LRP5 C>T	11	68216478	68216478	C	T	LRP5	c.4788C>T	NM_002335.4	NP_002326.2:p.(Thr1596=)	NC_000011.9:g.68216478C>T	(Likely) benign	2 labs	58a901c3fc
5:32724942 NPR3 C>A	5	32724942	32724942	C	A	NPR3	c.892+16C>A	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32724942C>A	(Likely) benign	2 labs	58ab0e59c5
18:58038804 MC4R G>T	18	58038804	58038804	G	T	MC4R	c.779C>A	NM_005912.3	NP_005903.2:p.(Pro260Gln)	NC_000018.9:g.58038804G>T	(Likely) pathogenic	3 labs	58c1342d95
18:57106987 CCBE1 G>A	18	57106987	57106987	G	A	CCBE1	c.837C>T	NM_133459.4	NP_597716.1:p.(Pro279=)	NC_000018.9:g.57106987G>A	(Likely) benign	2 labs	58db39ff77
2:32289053 SPAST C>G	2	32289053	32289053	C	G	SPAST	c.153C>G	NM_014946.4	NP_055761.2:p.(Tyr51Ter)	NC_000002.11:g.32289053C>G	(Likely) pathogenic	2 labs	58e329f220
15:42680000 CAPN3 CA>C	15	42680000	42680002	CA	C	CAPN3	c.550del	NM_000070.3	NP_000061.1:p.(Thr184ArgfsTer36)	NC_000015.9:g.42680002del	(Likely) pathogenic	2 labs	58e633bd2a
10:69955209 MYPN G>A	10	69955209	69955209	G	A	MYPN	c.3078G>A	NM_032578.4	NP_115967.2:p.(Gly1026=)	NC_000010.10:g.69955209G>A	(Likely) benign	3 labs	58ee8787ce
1:94495034 ABCA4 G>T	1	94495034	94495034	G	T	ABCA4	c.4506C>A	NM_000350.3	NP_000341.2:p.(Cys1502Ter)	NC_000001.10:g.94495034G>T	(Likely) pathogenic	4 labs	58efcadf75
13:77570078 CLN5 T>G	13	77570078	77570078	T	G	CLN5	c.381T>G	NM_001366624.2	NP_001353553.1:p.(Thr127=)	NC_000013.10:g.77570078T>G	(Likely) benign	2 labs	58f1984d17
11:108122659 ATM G>T	11	108122659	108122659	G	T	ATM	c.1703G>T	NM_000051.4	NP_000042.3:p.(Arg568Ile)	NC_000011.9:g.108122659G>T	(Likely) benign	3 labs	58f4c63640
11:46726894 ZNF408 G>A	11	46726894	46726894	G	A	ZNF408	c.1620G>A	NM_001184751.2	NP_001171680.1:p.(Gly540=)	NC_000011.9:g.46726894G>A	(Likely) benign	2 labs	59012ead3b
2:63631285 WDPCP C>G	2	63631285	63631285	C	G	WDPCP	c.1333G>C	NM_015910.7	NP_056994.3:p.(Ala445Pro)	NC_000002.11:g.63631285C>G	(Likely) benign	2 labs	5910ab2f23
2:179473074 TTN G>C	2	179473074	179473074	G	C	TTN	c.52536C>G	NM_001267550.2	NP_001254479.2:p.(Asn17512Lys)	NC_000002.11:g.179473074G>C	(Likely) benign	6 labs	5918754c47
22:29115468 CHEK2 CA>C	22	29115468	29115473	CA	C	CHEK2	c.597del	NM_007194.4	NP_009125.1:p.(Phe199LeufsTer6)	NC_000022.10:g.29115473del	(Likely) pathogenic	4 labs	5919712ea1
12:124333367 DNAH10 G>A	12	124333367	124333367	G	A	DNAH10	c.5686G>A	NM_207437.3	NP_997320.2:p.(Val1896Met)	NC_000012.11:g.124333367G>A	(Likely) benign	2 labs	591a25fc08
2:73716906 ALMS1 C>G	2	73716906	73716906	C	G	ALMS1	c.7823C>G	NM_015120.4	NP_055935.4:p.(Ala2608Gly)	NC_000002.11:g.73716906C>G	(Likely) benign	2 labs	591c917d40
10:12155047 DHTKD1 T>C	10	12155047	12155047	T	C	DHTKD1	c.2303T>C	NM_018706.7	NP_061176.4:p.(Met768Thr)	NC_000010.10:g.12155047T>C	VUS	2 labs	592ac3fc85
15:48714159 FBN1 C>T	15	48714159	48714159	C	T	FBN1	c.7560G>A	NM_000138.5	NP_000129.3:p.(Thr2520=)	NC_000015.9:g.48714159C>T	(Likely) benign	2 labs	592b77cb7a
7:33397473 BBS9 C>T	7	33397473	33397473	C	T	BBS9	c.1559C>T	NM_198428.3	NP_940820.1:p.(Pro520Leu)	NC_000007.13:g.33397473C>T	VUS	2 labs	592e5cced8
11:65319712 LTBP3 G>A	11	65319712	65319712	G	A	LTBP3	c.1345+7C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65319712G>A	(Likely) benign	2 labs	595a4e062b
4:114276408 ANK2 G>A	4	114276408	114276408	G	A	ANK2	c.6634G>A	NM_001148.6	NP_001139.3:p.(Gly2212Ser)	NC_000004.11:g.114276408G>A	(Likely) benign	3 labs	595b9eaf5c
15:43044259 TTBK2 G>A	15	43044259	43044259	G	A	TTBK2	c.3185C>T	NM_173500.4	NP_775771.3:p.(Thr1062Ile)	NC_000015.9:g.43044259G>A	(Likely) benign	2 labs	597690a6f3
12:7170336 C1S G>A	12	7170336	7170336	G	A	C1S	c.356G>A	NM_201442.4	NP_958850.1:p.(Arg119His)	NC_000012.11:g.7170336G>A	(Likely) benign	2 labs	5982aeed35
X:139586494 SOX3 TGCGGCCGCGGCAGCGGCGGCG>T	X	139586494	139586527	TGCGGCCGCGGCAGCGGCGGCG	T	SOX3	c.711_731del	NM_005634.3	NP_005625.2:p.(Ala242_Ala248del)	NC_000023.10:g.139586507_139586527del	(Likely) benign	3 labs	59805a1117
2:219674482 CYP27A1 G>A	2	219674482	219674482	G	A	CYP27A1	c.438G>A	NM_000784.4	NP_000775.1:p.(Pro146=)	NC_000002.11:g.219674482G>A	(Likely) benign	3 labs	598f91e6ea
1:235599877 TBCE T>C	1	235599877	235599877	T	C	TBCE	c.1070T>C	NM_001287801.2	NP_001274730.1:p.(Phe357Ser)	NC_000001.10:g.235599877T>C	VUS	2 labs	59950c9ded
12:57961409 KIF5A G>A	12	57961409	57961409	G	A	KIF5A	c.714+8G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57961409G>A	(Likely) benign	2 labs	599e37d8bf
11:47360174 MYBPC3 G>T	11	47360174	47360174	G	T	MYBPC3	c.2205C>A	NM_000256.3	NP_000247.2:p.(Ile735=)	NC_000011.9:g.47360174G>T	(Likely) benign	2 labs	59a697ab6c
17:7579472 TP53 G>C	17	7579472	7579472	G	C	TP53	c.215C>G	NM_001126114.3	NP_001119586.1:p.(Pro72Arg)	NC_000017.10:g.7579472G>C	(Likely) benign	7 labs	59b1faf043
17:39975704 FKBP10 G>T	17	39975704	39975704	G	T	FKBP10	c.917+53G>T	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39975704G>T	(Likely) benign	2 labs	59b1b1990d
6:112435865 LAMA4 C>T	6	112435865	112435865	C	T	LAMA4	c.5185+1G>A	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112435865C>T	VUS	2 labs	59c1d140d4
13:32936853 BRCA2 C>T	13	32936853	32936853	C	T	BRCA2	c.7976+23C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32936853C>T	(Likely) benign	5 labs	59c3d80192
2:152354228 NEB A>T	2	152354228	152354228	A	T	NEB	c.24317T>A	NM_001271208.2	NP_001258137.2:p.(Leu8106Ter)	NC_000002.11:g.152354228A>T	(Likely) pathogenic	2 labs	59c9f18500
13:32913173 BRCA2 C>A	13	32913173	32913173	C	A	BRCA2	c.4681C>A	NM_000059.4	NP_000050.3:p.(His1561Asn)	NC_000013.10:g.32913173C>A	(Likely) benign	6 labs	59d7c6a9b1
14:45642365 FANCM C>A	14	45642365	45642365	C	A	FANCM	c.2268C>A	NM_020937.4	NP_065988.1:p.(Arg756=)	NC_000014.8:g.45642365C>A	(Likely) benign	2 labs	59d869bba0
10:92678748 ANKRD1 A>T	10	92678748	92678748	A	T	ANKRD1	c.346-19T>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678748A>T	(Likely) benign	2 labs	59d9c454fe
3:52437754 BAP1 G>A	3	52437754	52437754	G	A	BAP1	c.1407C>T	NM_004656.4	NP_004647.1:p.(Ser469=)	NC_000003.11:g.52437754G>A	(Likely) benign	3 labs	59e722b038
7:103234202 RELN C>T	7	103234202	103234202	C	T	RELN	c.3839G>A	NM_005045.4	NP_005036.2:p.(Gly1280Glu)	NC_000007.13:g.103234202C>T	(Likely) benign	2 labs	59ec0c5e51
16:15815335 MYH11 T>C	16	15815335	15815335	T	C	MYH11	c.4543A>G	NM_001040113.2	NP_001035202.1:p.(Met1515Val)	NC_000016.9:g.15815335T>C	(Likely) benign	3 labs	59f0dcef85
7:35289736 TBX20 T>C	7	35289736	35289736	T	C	TBX20	c.207A>G	NM_001077653.2	NP_001071121.1:p.(Gly69=)	NC_000007.13:g.35289736T>C	(Likely) benign	2 labs	59f117d766
10:112404398 RBM20 C>A	10	112404398	112404398	C	A	RBM20	c.186C>A	NM_001134363.3	NP_001127835.2:p.(Ile62=)	NC_000010.10:g.112404398C>A	(Likely) benign	2 labs	59f36dcae8
10:95552986 LGI1 A>C	10	95552986	95552986	A	C	LGI1	c.717A>C	NM_005097.4	NP_005088.1:p.(Ile239=)	NC_000010.10:g.95552986A>C	(Likely) benign	2 labs	59f7e77c99
2:179442524 TTN T>C	2	179442524	179442524	T	C	TTN	c.68629A>G	NM_001267550.2	NP_001254479.2:p.(Ile22877Val)	NC_000002.11:g.179442524T>C	VUS	2 labs	59f8a026ec
19:1627422 TCF3 T>C	19	1627422	1627422	T	C	TCF3	c.302A>G	NM_003200.5	NP_003191.1:p.(Lys101Arg)	NC_000019.9:g.1627422T>C	(Likely) benign	2 labs	59fbfc4312
16:16248476 ABCC6 C>T	16	16248476	16248476	C	T	ABCC6	c.4208+9G>A	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16248476C>T	(Likely) benign	3 labs	5a0f249dd9
1:112524698 KCND3 C>T	1	112524698	112524698	C	T	KCND3	c.651G>A	NM_004980.5	NP_004971.2:p.(Pro217=)	NC_000001.10:g.112524698C>T	(Likely) benign	2 labs	5a0f4e7deb
12:21623284 RECQL C>CAAAAAAA	12	21623284	21623300	C	CAAAAAAA	RECQL	c.1798-11_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623294_21623300dup	(Likely) benign	2 labs	5a148103f4
16:15808876 MYH11 C>G	16	15808876	15808876	C	G	MYH11	c.5697G>C	NM_001040113.2	NP_001035202.1:p.(Glu1899Asp)	NC_000016.9:g.15808876C>G	(Likely) benign	5 labs	5a1aad5fde
2:179453287 TTN C>T	2	179453287	179453287	C	T	TTN	c.63165G>A	NM_001267550.2	NP_001254479.2:p.(Pro21055=)	NC_000002.11:g.179453287C>T	(Likely) benign	5 labs	5a1c6cc48d
7:33136109 RP9 C>T	7	33136109	33136109	C	T	RP9	c.463G>A	NM_203288.2	NP_976033.1:p.(Val155Ile)	NC_000007.13:g.33136109C>T	(Likely) benign	2 labs	5a2050cbbd
21:47406610 COL6A1 G>GC	21	47406610	47406618	G	GC	COL6A1	c.588+19dup	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47406618dup	(Likely) benign	2 labs	5a290c2500
15:58840701 LIPC C>T	15	58840701	58840701	C	T	LIPC	c.981C>T	NM_000236.3	NP_000227.2:p.(His327=)	NC_000015.9:g.58840701C>T	(Likely) benign	2 labs	5a361f3823
2:227659840 IRS1 T>G	2	227659840	227659840	T	G	IRS1	c.3615A>C	NM_005544.3	NP_005535.1:p.(Pro1205=)	NC_000002.11:g.227659840T>G	(Likely) benign	2 labs	5a38921366
13:32915105 BRCA2 G>A	13	32915105	32915105	G	A	BRCA2	c.6613G>A	NM_000059.4	NP_000050.3:p.(Val2205Met)	NC_000013.10:g.32915105G>A	(Likely) benign	3 labs	5a3dea48d6
14:105173282 INF2 G>A	14	105173282	105173282	G	A	INF2	c.879G>A	NM_022489.4	NP_071934.3:p.(Ser293=)	NC_000014.8:g.105173282G>A	(Likely) benign	2 labs	5a49859d85
14:23859615 MYH6 C>T	14	23859615	23859615	C	T	MYH6	c.3383G>A	NM_002471.4	NP_002462.2:p.(Arg1128His)	NC_000014.8:g.23859615C>T	VUS	2 labs	5a5055edc9
5:37108520 CPLANE1 C>T	5	37108520	37108520	C	T	CPLANE1	c.9292G>A	NM_023073.4	NP_075561.3:p.(Gly3098Arg)	NC_000005.9:g.37108520C>T	VUS	3 labs	5a524fc509
14:23886826 MYH7 C>T	14	23886826	23886826	C	T	MYH7	c.4239G>A	NM_000257.4	NP_000248.2:p.(Ser1413=)	NC_000014.8:g.23886826C>T	(Likely) benign	5 labs	5a57f14e23
2:179440812 TTN C>G	2	179440812	179440812	C	G	TTN	c.70047G>C	NM_001267550.2	NP_001254479.2:p.(Glu23349Asp)	NC_000002.11:g.179440812C>G	VUS	2 labs	5a5b30e9ce
2:179418492 TTN G>C	2	179418492	179418492	G	C	TTN	c.81536C>G	NM_133378.4	NP_596869.4:p.(Thr27179Ser)	NC_000002.11:g.179418492G>C	(Likely) benign	2 labs	5a5fde8e28
1:236902618 ACTN2 G>A	1	236902618	236902618	G	A	ACTN2	c.269G>A	NM_001278344.2	NP_001265273.1:p.(Arg90His)	NC_000001.10:g.236902618G>A	(Likely) benign	3 labs	5a6b88d996
5:149262996 PDE6A C>T	5	149262996	149262996	C	T	PDE6A	c.2131G>A	NM_000440.3	NP_000431.2:p.(Val711Ile)	NC_000005.9:g.149262996C>T	VUS	2 labs	5a7db6b466
10:112540897 RBM20 C>T	10	112540897	112540897	C	T	RBM20	c.530C>T	NM_001134363.3	NP_001127835.2:p.(Thr177Ile)	NC_000010.10:g.112540897C>T	(Likely) benign	3 labs	5a83f4c758
13:110435406 IRS2 C>T	13	110435406	110435406	C	T	IRS2	c.2995G>A	NM_003749.3	NP_003740.2:p.(Val999Met)	NC_000013.10:g.110435406C>T	(Likely) benign	2 labs	5a8acfa0f5
12:7244382 C1R C>A	12	7244382	7244382	C	A	C1R	c.31G>T	NM_001354346.2	NP_001341275.1:p.(Glu11Ter)	NC_000012.11:g.7244382C>A	(Likely) benign	2 labs	5a94066fd2
19:11327626 DOCK6 A>G	19	11327626	11327626	A	G	DOCK6	c.3858T>C	NM_020812.4	NP_065863.2:p.(Asp1286=)	NC_000019.9:g.11327626A>G	(Likely) benign	2 labs	5a9dfb86a6
2:179647078 TTN C>T	2	179647078	179647078	C	T	TTN	c.3241G>A	NM_001267550.2	NP_001254479.2:p.(Ala1081Thr)	NC_000002.11:g.179647078C>T	(Likely) benign	4 labs	5a9fc6a035
4:113353409 ALPK1 C>T	4	113353409	113353409	C	T	ALPK1	c.2706C>T	NM_025144.4	NP_079420.3:p.(Ser902=)	NC_000004.11:g.113353409C>T	(Likely) benign	2 labs	5aa02bdcd8
1:21894694 ALPL G>T	1	21894694	21894694	G	T	ALPL	c.746G>T	NM_000478.6	NP_000469.3:p.(Gly249Val)	NC_000001.10:g.21894694G>T	(Likely) pathogenic	2 labs	5aae0d6435
5:149460553 CSF1R A>G	5	149460553	149460553	A	G	CSF1R	c.84T>C	NM_001375320.1	NP_001362249.1:p.(Pro28=)	NC_000005.9:g.149460553A>G	(Likely) benign	2 labs	5ab03e9e28
1:243471348 SDCCAG8 T>C	1	243471348	243471348	T	C	SDCCAG8	c.894T>C	NM_001350248.2	NP_001337177.1:p.(His298=)	NC_000001.10:g.243471348T>C	(Likely) benign	2 labs	5ab0de5786
7:128485276 FLNC G>A	7	128485276	128485276	G	A	FLNC	c.3757G>A	NM_001458.5	NP_001449.3:p.(Val1253Ile)	NC_000007.13:g.128485276G>A	(Likely) benign	3 labs	5ab3e922f8
16:23647039 PALB2 G>A	16	23647039	23647039	G	A	PALB2	c.828C>T	NM_024675.4	NP_078951.2:p.(His276=)	NC_000016.9:g.23647039G>A	(Likely) benign	2 labs	5ab93ae85c
4:114276906 ANK2 G>A	4	114276906	114276906	G	A	ANK2	c.7132G>A	NM_001148.6	NP_001139.3:p.(Glu2378Lys)	NC_000004.11:g.114276906G>A	(Likely) benign	3 labs	5aedf818e8
2:21242771 APOB T>C	2	21242771	21242771	T	C	APOB	c.2823A>G	NM_000384.3	NP_000375.3:p.(Thr941=)	NC_000002.11:g.21242771T>C	(Likely) benign	2 labs	5b06ac51ef
19:10904480 DNM2 C>T	19	10904480	10904480	C	T	DNM2	c.1077C>T	NM_001005360.3	NP_001005360.1:p.(Gly359=)	NC_000019.9:g.10904480C>T	(Likely) benign	2 labs	5b1083dfdc
16:88497199 ZNF469 G>A	16	88497199	88497199	G	A	ZNF469	c.3321G>A	NM_001367624.2	NP_001354553.1:p.(Arg1107=)	NC_000016.9:g.88497199G>A	(Likely) benign	2 labs	5b114823a3
14:45605327 FANCM A>G	14	45605327	45605327	A	G	FANCM	c.93A>G	NM_020937.4	NP_065988.1:p.(Arg31=)	NC_000014.8:g.45605327A>G	(Likely) benign	2 labs	5b1d0adeea
2:152473986 NEB CA>C	2	152473986	152474002	CA	C	NEB	c.11077-5del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152474002del	(Likely) benign	3 labs	5b1d3d0d90
2:21236085 APOB C>T	2	21236085	21236085	C	T	APOB	c.4163G>A	NM_000384.3	NP_000375.3:p.(Arg1388His)	NC_000002.11:g.21236085C>T	(Likely) benign	2 labs	5b232a411c
11:2591949 KCNQ1 G>A	11	2591949	2591949	G	A	KCNQ1	c.569G>A	NM_000218.3	NP_000209.2:p.(Arg190Gln)	NC_000011.9:g.2591949G>A	(Likely) pathogenic	3 labs	5b273d0a47
5:179260201 SQSTM1 G>A	5	179260201	179260201	G	A	SQSTM1	c.924G>A	NM_003900.5	NP_003891.1:p.(Ala308=)	NC_000005.9:g.179260201G>A	(Likely) benign	4 labs	5b33ef1aeb
13:32913091 BRCA2 A>C	13	32913091	32913091	A	C	BRCA2	c.4599A>C	NM_000059.4	NP_000050.3:p.(Lys1533Asn)	NC_000013.10:g.32913091A>C	(Likely) benign	2 labs	5b4719b878
9:107549295 ABCA1 GA>G	9	107549295	107549303	GA	G	ABCA1	c.6205-39del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549303del	(Likely) benign	2 labs	5b48050b28
3:30664742 TGFBR2 G>A	3	30664742	30664742	G	A	TGFBR2	c.146G>A	NM_001024847.2	NP_001020018.1:p.(Arg49Lys)	NC_000003.11:g.30664742G>A	VUS	2 labs	5b4846a1e6
16:15839103 MYH11 G>T	16	15839103	15839103	G	T	MYH11	c.2433-9C>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15839103G>T	(Likely) benign	4 labs	5b4919c48b
21:46931109 COL18A1 G>A	21	46931109	46931109	G	A	COL18A1	c.4309G>A	NM_030582.4	NP_085059.2:p.(Asp1437Asn)	NC_000021.8:g.46931109G>A	(Likely) benign	3 labs	5b508b6ae4
1:180241046 LHX4 A>G	1	180241046	180241046	A	G	LHX4	c.683A>G	NM_033343.4	NP_203129.1:p.(Tyr228Cys)	NC_000001.10:g.180241046A>G	VUS	2 labs	5b5859d8f7
14:23901920 MYH7 C>T	14	23901920	23901920	C	T	MYH7	c.430G>A	NM_000257.4	NP_000248.2:p.(Gly144Ser)	NC_000014.8:g.23901920C>T	(Likely) pathogenic	2 labs	5b5d82dad1
11:61723229 BEST1 A>G	11	61723229	61723229	A	G	BEST1	c.287A>G	NM_004183.4	NP_004174.1:p.(Gln96Arg)	NC_000011.9:g.61723229A>G	(Likely) pathogenic	2 labs	5b660c5b52
9:130242179 LRSAM1 A>G	9	130242179	130242179	A	G	LRSAM1	c.965A>G	NM_138361.5	NP_612370.3:p.(Gln322Arg)	NC_000009.11:g.130242179A>G	(Likely) benign	2 labs	5b69f0409e
5:79950727 MSH3 G>GCAGCGCCCC	5	79950727	79950749	G	GCAGCGCCCC	MSH3	c.195_203dup	NM_002439.5	NP_002430.3:p.(Pro67_Pro69dup)	NC_000005.9:g.79950741_79950749dup	(Likely) benign	2 labs	5b6f9c12d9
2:1748209 PXDN C>A	2	1748209	1748209	C	A	PXDN	c.19G>T	NM_012293.3	NP_036425.1:p.(Gly7Cys)	NC_000002.11:g.1748209C>A	(Likely) benign	2 labs	5b6fed8129
11:6646898 DCHS1 C>T	11	6646898	6646898	C	T	DCHS1	c.6792G>A	NM_003737.4	NP_003728.1:p.(Thr2264=)	NC_000011.9:g.6646898C>T	(Likely) benign	3 labs	5b71789177
2:179433258 TTN T>C	2	179433258	179433258	T	C	TTN	c.77601A>G	NM_001267550.2	NP_001254479.2:p.(Gln25867=)	NC_000002.11:g.179433258T>C	(Likely) benign	2 labs	5b79de6c47
19:38991516 RYR1 G>A	19	38991516	38991516	G	A	RYR1	c.7500G>A	NM_000540.3	NP_000531.2:p.(Ala2500=)	NC_000019.9:g.38991516G>A	(Likely) benign	2 labs	5b7a654844
13:110843994 COL4A1 C>G	13	110843994	110843994	C	G	COL4A1	c.1539G>C	NM_001303110.2	NP_001290039.1:p.(Leu513Phe)	NC_000013.10:g.110843994C>G	(Likely) benign	3 labs	5b927d16aa
19:45412204 APOE C>T	19	45412204	45412204	C	T	APOE	c.729C>T	NM_001302688.2	NP_001289617.1:p.(Ala243=)	NC_000019.9:g.45412204C>T	(Likely) benign	2 labs	5b9a332479
19:50760657 MYH14 A>C	19	50760657	50760657	A	C	MYH14	c.2146A>C	NM_001145809.2	NP_001139281.1:p.(Lys716Gln)	NC_000019.9:g.50760657A>C	VUS	2 labs	5b9ecc2678
X:153593497 FLNA G>T	X	153593497	153593497	G	T	FLNA	c.1691+7C>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153593497G>T	(Likely) benign	3 labs	5ba0928385
11:533435 HRAS G>A	11	533435	533435	G	A	HRAS	c.450+18C>T	NM_005343.4	NP_005334.1:p.?	NC_000011.9:g.533435G>A	(Likely) benign	2 labs	5ba4e54a5c
5:125911132 ALDH7A1 G>A	5	125911132	125911132	G	A	ALDH7A1	c.675C>T	NM_001182.5	NP_001173.2:p.(Leu225=)	NC_000005.9:g.125911132G>A	(Likely) benign	2 labs	5bab78965e
1:243456443 SDCCAG8 C>A	1	243456443	243456443	C	A	SDCCAG8	c.597C>A	NM_001350248.2	NP_001337177.1:p.(Gly199=)	NC_000001.10:g.243456443C>A	(Likely) benign	2 labs	5bb8089f31
3:184045397 EIF4G1 C>G	3	184045397	184045397	C	G	EIF4G1	c.3688C>G	NM_182917.4	NP_886553.3:p.(Pro1230Ala)	NC_000003.11:g.184045397C>G	(Likely) benign	2 labs	5bb8716bf2
2:74589288 DCTN1 G>C	2	74589288	74589288	G	C	DCTN1	c.3610-20C>G	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74589288G>C	(Likely) benign	2 labs	5bbf2e748c
8:144998286 PLEC C>T	8	144998286	144998286	C	T	PLEC	c.6222G>A	NM_201380.4	NP_958782.1:p.(Ala2074=)	NC_000008.10:g.144998286C>T	(Likely) benign	2 labs	5bc01150f4
3:123512627 MYLK G>T	3	123512627	123512627	G	T	MYLK	c.62C>A	NM_053025.4	NP_444253.3:p.(Pro21His)	NC_000003.11:g.123512627G>T	(Likely) benign	2 labs	5bc96a0a2f
13:32929057 BRCA2 TTC>T	13	32929057	32929060	TTC	T	BRCA2	c.7069_7070del	NM_000059.4	NP_000050.3:p.(Leu2357ValfsTer2)	NC_000013.10:g.32929059_32929060del	(Likely) pathogenic	4 labs	5bedc7533a
22:38528958 PLA2G6 C>T	22	38528958	38528958	C	T	PLA2G6	c.957G>A	NM_003560.4	NP_003551.2:p.(Thr319=)	NC_000022.10:g.38528958C>T	(Likely) benign	2 labs	5be9aa44e6
10:88476312 LDB3 G>A	10	88476312	88476312	G	A	LDB3	c.1475G>A	NM_001171610.2	NP_001165081.1:p.(Arg492His)	NC_000010.10:g.88476312G>A	(Likely) benign	2 labs	5bebfb9677
10:69957110 MYPN G>A	10	69957110	69957110	G	A	MYPN	c.3160G>A	NM_032578.4	NP_115967.2:p.(Gly1054Arg)	NC_000010.10:g.69957110G>A	VUS	2 labs	5bee259a8d
2:179414440 TTN A>G	2	179414440	179414440	A	G	TTN	c.92009T>C	NM_001267550.2	NP_001254479.2:p.(Ile30670Thr)	NC_000002.11:g.179414440A>G	(Likely) benign	2 labs	5bf37dd923
11:48166641 PTPRJ G>A	11	48166641	48166641	G	A	PTPRJ	c.2876G>A	NM_002843.4	NP_002834.3:p.(Arg959His)	NC_000011.9:g.48166641G>A	(Likely) benign	2 labs	5bfef97a1b
2:170009391 LRP2 G>T	2	170009391	170009391	G	T	LRP2	c.12379C>A	NM_004525.3	NP_004516.2:p.(Arg4127Ser)	NC_000002.11:g.170009391G>T	(Likely) benign	3 labs	5c08597325
7:95751221 SLC25A13 G>A	7	95751221	95751221	G	A	SLC25A13	c.1680C>T	NM_014251.3	NP_055066.1:p.(Ser560=)	NC_000007.13:g.95751221G>A	(Likely) benign	2 labs	5c0d90a912
19:50779342 MYH14 G>C	19	50779342	50779342	G	C	MYH14	c.3562G>C	NM_001145809.2	NP_001139281.1:p.(Glu1188Gln)	NC_000019.9:g.50779342G>C	VUS	2 labs	5c14e0eea4
7:91712609 AKAP9 A>C	7	91712609	91712609	A	C	AKAP9	c.8286A>C	NM_005751.5	NP_005742.4:p.(Lys2762Asn)	NC_000007.13:g.91712609A>C	(Likely) benign	3 labs	5c21cadf29
16:81902879 PLCG2 C>G	16	81902879	81902879	C	G	PLCG2	c.540C>G	NM_002661.5	NP_002652.2:p.(Ala180=)	NC_000016.9:g.81902879C>G	(Likely) benign	2 labs	5c27bc518f
11:2683177 KCNQ1 C>T	11	2683177	2683177	C	T	KCNQ1	c.1394-14C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683177C>T	(Likely) benign	3 labs	5c2aba034a
8:117869630 RAD21 A>C	8	117869630	117869630	A	C	RAD21	c.564T>G	NM_006265.3	NP_006256.1:p.(Thr188=)	NC_000008.10:g.117869630A>C	(Likely) benign	3 labs	5c300e6ed1
5:127622474 FBN2 G>A	5	127622474	127622474	G	A	FBN2	c.6948C>T	NM_001999.4	NP_001990.2:p.(Ile2316=)	NC_000005.9:g.127622474G>A	(Likely) benign	2 labs	5c31eb502a
7:131241029 PODXL G>GGGCGAC	7	131241029	131241054	G	GGGCGAC	PODXL	c.84_89dup	NM_001018111.3	NP_001018121.1:p.(Pro30_Ser31dup)	NC_000007.13:g.131241049_131241054dup	(Likely) benign	4 labs	5c3785cf75
10:102770502 PDZD7 G>A	10	102770502	102770502	G	A	PDZD7	c.2144C>T	NM_001195263.2	NP_001182192.1:p.(Pro715Leu)	NC_000010.10:g.102770502G>A	(Likely) benign	2 labs	5c487a1be4
X:129149349 BCORL1 G>A	X	129149349	129149349	G	A	BCORL1	c.2601G>A	NM_001184772.3	NP_001171701.1:p.(Ser867=)	NC_000023.10:g.129149349G>A	(Likely) benign	2 labs	5c5077f7cd
19:2109157 AP3D1 T>G	19	2109157	2109157	T	G	AP3D1	c.3400A>C	NM_001261826.3	NP_001248755.1:p.(Ile1134Leu)	NC_000019.9:g.2109157T>G	(Likely) benign	2 labs	5c55bb328f
9:107556793 ABCA1 T>TA	9	107556793	107556811	T	TA	ABCA1	c.5383-3dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556811dup	(Likely) benign	2 labs	5c57d87e96
12:132426432 PUS1 C>T	12	132426432	132426432	C	T	PUS1	c.1140C>T	NM_025215.6	NP_079491.2:p.(Thr380=)	NC_000012.11:g.132426432C>T	(Likely) benign	3 labs	5c5b90526b
7:128484128 FLNC T>C	7	128484128	128484128	T	C	FLNC	c.3000T>C	NM_001458.5	NP_001449.3:p.(Asp1000=)	NC_000007.13:g.128484128T>C	(Likely) benign	5 labs	5c6abe8f7c
19:5844672 FUT3 C>G	19	5844672	5844672	C	G	FUT3	c.179G>C	NM_000149.4	NP_000140.1:p.(Arg60Pro)	NC_000019.9:g.5844672C>G	(Likely) benign	2 labs	5c7c628620
2:166003301 SCN3A G>A	2	166003301	166003301	G	A	SCN3A	c.1619C>T	NM_006922.4	NP_008853.3:p.(Ser540Phe)	NC_000002.11:g.166003301G>A	(Likely) benign	3 labs	5c7fe6da6c
3:14174407 TMEM43 G>A	3	14174407	14174407	G	A	TMEM43	c.484G>A	NM_024334.3	NP_077310.1:p.(Asp162Asn)	NC_000003.11:g.14174407G>A	VUS	2 labs	5c874833e1
2:48027375 MSH6 T>C	2	48027375	48027375	T	C	MSH6	c.2253T>C	NM_000179.3	NP_000170.1:p.(Asn751=)	NC_000002.11:g.48027375T>C	(Likely) benign	3 labs	5c891fdcf4
13:32928977 BRCA2 T>C	13	32928977	32928977	T	C	BRCA2	c.7008-21T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928977T>C	(Likely) benign	2 labs	5c93800889
2:179407087 TTN C>T	2	179407087	179407087	C	T	TTN	c.97396G>A	NM_001267550.2	NP_001254479.2:p.(Glu32466Lys)	NC_000002.11:g.179407087C>T	VUS	2 labs	5c938909d2
8:90955583 NBN A>C	8	90955583	90955583	A	C	NBN	c.2082T>G	NM_002485.5	NP_002476.2:p.(Pro694=)	NC_000008.10:g.90955583A>C	(Likely) benign	2 labs	5c9918cfff
19:1622372 TCF3 T>C	19	1622372	1622372	T	C	TCF3	c.592A>G	NM_003200.5	NP_003191.1:p.(Thr198Ala)	NC_000019.9:g.1622372T>C	(Likely) benign	2 labs	5c997cb017
21:47545926 COL6A2 G>A	21	47545926	47545926	G	A	COL6A2	c.2197G>A	NM_058175.3	NP_478055.2:p.(Gly733Arg)	NC_000021.8:g.47545926G>A	VUS	2 labs	5c9cc89d1c
17:79618706 PDE6G G>A	17	79618706	79618706	G	A	PDE6G	c.156C>T	NM_002602.4	NP_002593.1:p.(Asp52=)	NC_000017.10:g.79618706G>A	(Likely) benign	2 labs	5c9e1a2ea1
15:48414197 SLC24A5 G>T	15	48414197	48414197	G	T	SLC24A5	c.265G>T	NM_205850.3	NP_995322.1:p.(Glu89Ter)	NC_000015.9:g.48414197G>T	(Likely) pathogenic	2 labs	5ca35eef59
10:18807333 CACNB2 G>A	10	18807333	18807333	G	A	CACNB2	c.708G>A	NM_000724.4	NP_000715.2:p.(Leu236=)	NC_000010.10:g.18807333G>A	(Likely) benign	2 labs	5ca8c8eeed
18:10677880 PIEZO2 GA>G	18	10677880	10677891	GA	G	PIEZO2	c.7614-9del	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10677891del	(Likely) benign	3 labs	5cb2a8c770
2:179472611 TTN G>A	2	179472611	179472611	G	A	TTN	c.52903C>T	NM_001267550.2	NP_001254479.2:p.(Arg17635Ter)	NC_000002.11:g.179472611G>A	(Likely) pathogenic	2 labs	5cb887c7cd
17:78188112 SGSH G>A	17	78188112	78188112	G	A	SGSH	c.522C>T	NM_001352921.3	NP_001339850.1:p.(Tyr174=)	NC_000017.10:g.78188112G>A	(Likely) benign	2 labs	5cbdfb79b6
7:151927016 KMT2C T>C	7	151927016	151927016	T	C	KMT2C	c.2968A>G	NM_170606.3	NP_733751.2:p.(Ser990Gly)	NC_000007.13:g.151927016T>C	(Likely) benign	2 labs	5cc06bb874
3:195965667 PCYT1A G>C	3	195965667	195965667	G	C	PCYT1A	c.996C>G	NM_005017.4	NP_005008.2:p.(Pro332=)	NC_000003.11:g.195965667G>C	(Likely) benign	2 labs	5cc8e6f90b
15:48773880 FBN1 G>A	15	48773880	48773880	G	A	FBN1	c.3936C>T	NM_000138.5	NP_000129.3:p.(Ser1312=)	NC_000015.9:g.48773880G>A	(Likely) benign	2 labs	5cd60aa1ad
19:39055662 RYR1 A>T	19	39055662	39055662	A	T	RYR1	c.12688A>T	NM_000540.3	NP_000531.2:p.(Met4230Leu)	NC_000019.9:g.39055662A>T	VUS	2 labs	5cd7caee94
17:10436860 MYH2 A>G	17	10436860	10436860	A	G	MYH2	c.2270T>C	NM_001100112.2	NP_001093582.1:p.(Ile757Thr)	NC_000017.10:g.10436860A>G	VUS	2 labs	5ce13f35f0
9:2718078 KCNV2 C>A	9	2718078	2718078	C	A	KCNV2	c.339C>A	NM_133497.4	NP_598004.1:p.(Cys113Ter)	NC_000009.11:g.2718078C>A	(Likely) pathogenic	2 labs	5ce7ffe90e
16:2164808 PKD1 C>T	16	2164808	2164808	C	T	PKD1	c.2216G>A	NM_001009944.3	NP_001009944.3:p.(Arg739Gln)	NC_000016.9:g.2164808C>T	(Likely) benign	3 labs	5cf720ee9f
17:56293449 MKS1 C>T	17	56293449	56293449	C	T	MKS1	c.417G>A	NM_017777.4	NP_060247.2:p.(Glu139=)	NC_000017.10:g.56293449C>T	(Likely) pathogenic	4 labs	5cfc0f634b
10:85973986 CDHR1 C>T	10	85973986	85973986	C	T	CDHR1	c.2189C>T	NM_033100.4	NP_149091.1:p.(Ser730Phe)	NC_000010.10:g.85973986C>T	VUS	2 labs	5cfde15833
15:72996605 BBS4 G>A	15	72996605	72996605	G	A	BBS4	c.77-5436G>A	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72996605G>A	(Likely) benign	2 labs	5d0f487d74
16:88499218 ZNF469 C>G	16	88499218	88499218	C	G	ZNF469	c.5340C>G	NM_001367624.2	NP_001354553.1:p.(Pro1780=)	NC_000016.9:g.88499218C>G	(Likely) benign	2 labs	5d10bab07b
9:107556793 ABCA1 TA>T	9	107556793	107556811	TA	T	ABCA1	c.5383-3del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556811del	(Likely) benign	2 labs	5d1f2433e4
1:236908084 ACTN2 C>T	1	236908084	236908084	C	T	ACTN2	c.782+8C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236908084C>T	(Likely) benign	2 labs	5d1f95f0f7
8:62496539 ASPH T>C	8	62496539	62496539	T	C	ASPH	c.1026A>G	NM_004318.4	NP_004309.2:p.(Lys342=)	NC_000008.10:g.62496539T>C	(Likely) benign	2 labs	5d219d1a62
2:238269763 COL6A3 C>T	2	238269763	238269763	C	T	COL6A3	c.6210+1G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238269763C>T	(Likely) pathogenic	2 labs	5d2a33854c
2:179472763 TTN G>A	2	179472763	179472763	G	A	TTN	c.45047C>T	NM_133378.4	NP_596869.4:p.(Thr15016Ile)	NC_000002.11:g.179472763G>A	VUS	3 labs	5d2e6f6c3f
2:112751884 MERTK A>G	2	112751884	112751884	A	G	MERTK	c.1353A>G	NM_006343.3	NP_006334.2:p.(Gln451=)	NC_000002.11:g.112751884A>G	(Likely) benign	2 labs	5d35081336
8:144995483 PLEC C>T	8	144995483	144995483	C	T	PLEC	c.8587G>A	NM_000445.5	NP_000436.2:p.(Asp2863Asn)	NC_000008.10:g.144995483C>T	(Likely) benign	3 labs	5d35c6b044
1:215987094 USH2A G>A	1	215987094	215987094	G	A	USH2A	c.9723C>T	NM_206933.4	NP_996816.3:p.(Tyr3241=)	NC_000001.10:g.215987094G>A	(Likely) benign	2 labs	5d3bbb7403
6:146755583 GRM1 C>T	6	146755583	146755583	C	T	GRM1	c.3236C>T	NM_001278064.2	NP_001264993.1:p.(Pro1079Leu)	NC_000006.11:g.146755583C>T	VUS	2 labs	5d3e2670fa
6:56466279 DST T>C	6	56466279	56466279	T	C	DST	c.11503A>G	NM_001374736.1	NP_001361665.1:p.(Thr3835Ala)	NC_000006.11:g.56466279T>C	(Likely) benign	2 labs	5d4a0637a8
17:40717672 COASY C>G	17	40717672	40717672	C	G	COASY	c.1486-5C>G	NM_025233.7	NP_079509.5:p.?	NC_000017.10:g.40717672C>G	(Likely) benign	3 labs	5d5a9c452b
19:47259533 FKRP C>A	19	47259533	47259533	C	A	FKRP	c.826C>A	NM_001039885.3	NP_001034974.1:p.(Leu276Ile)	NC_000019.9:g.47259533C>A	(Likely) pathogenic	4 labs	5d67ff81fc
16:89985918 MC1R C>A	16	89985918	89985918	C	A	MC1R	c.252C>A	NM_002386.4	NP_002377.4:p.(Asp84Glu)	NC_000016.9:g.89985918C>A	(Likely) benign	2 labs	5d6f8d4bcd
X:77380351 PGK1 C>CT	X	77380351	77380354	C	CT	PGK1	c.937-17dup	NM_000291.4	NP_000282.1:p.?	NC_000023.10:g.77380354dup	(Likely) benign	2 labs	5d734f32c7
5:149433710 CSF1R A>G	5	149433710	149433710	A	G	CSF1R	c.2841T>C	NM_005211.4	NP_005202.2:p.(Ser947=)	NC_000005.9:g.149433710A>G	(Likely) benign	2 labs	5d948945e9
11:20668480 SLC6A5 C>T	11	20668480	20668480	C	T	SLC6A5	c.2070C>T	NM_004211.5	NP_004202.4:p.(Thr690=)	NC_000011.9:g.20668480C>T	(Likely) benign	3 labs	5d97b1d283
2:179641203 TTN A>G	2	179641203	179641203	A	G	TTN	c.5388T>C	NM_001267550.2	NP_001254479.2:p.(Asp1796=)	NC_000002.11:g.179641203A>G	(Likely) benign	2 labs	5da0f687bc
2:179447134 TTN C>T	2	179447134	179447134	C	T	TTN	c.66049G>A	NM_001267550.2	NP_001254479.2:p.(Val22017Met)	NC_000002.11:g.179447134C>T	VUS	2 labs	5da19fbac0
19:38610444 SIPA1L3 T>C	19	38610444	38610444	T	C	SIPA1L3	c.2790T>C	NM_015073.3	NP_055888.1:p.(Tyr930=)	NC_000019.9:g.38610444T>C	(Likely) benign	2 labs	5db3bdb107
3:38618275 SCN5A A>G	3	38618275	38618275	A	G	SCN5A	c.3391-3T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38618275A>G	(Likely) benign	2 labs	5db6962416
7:81695857 CACNA2D1 A>G	7	81695857	81695857	A	G	CACNA2D1	c.659-17T>C	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695857A>G	(Likely) benign	3 labs	5dc71f408e
11:68682402 IGHMBP2 A>G	11	68682402	68682402	A	G	IGHMBP2	c.823A>G	NM_002180.3	NP_002171.2:p.(Ile275Val)	NC_000011.9:g.68682402A>G	(Likely) benign	2 labs	5dc8acf26d
2:179399966 TTN A>G	2	179399966	179399966	A	G	TTN	c.101376T>C	NM_001267550.2	NP_001254479.2:p.(Tyr33792=)	NC_000002.11:g.179399966A>G	(Likely) benign	4 labs	5dc99e3a48
14:105177351 INF2 CA>C	14	105177351	105177352	CA	C	INF2	c.2310+8del	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105177352del	(Likely) benign	2 labs	5dd1a8ad46
2:234250961 SAG C>T	2	234250961	234250961	C	T	SAG	c.1091C>T	NM_000541.5	NP_000532.2:p.(Pro364Leu)	NC_000002.11:g.234250961C>T	(Likely) benign	2 labs	5ddd25e280
2:167143050 SCN9A G>A	2	167143050	167143050	G	A	SCN9A	c.1398C>T	NM_002977.3	NP_002968.1:p.(Ser466=)	NC_000002.11:g.167143050G>A	(Likely) benign	4 labs	5dddde813c
1:243542017 SDCCAG8 C>T	1	243542017	243542017	C	T	SDCCAG8	c.1474-6C>T	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243542017C>T	(Likely) benign	2 labs	5dea4e563f
2:179476842 TTN G>A	2	179476842	179476842	G	A	TTN	c.42592C>T	NM_133378.4	NP_596869.4:p.(Arg14198Ter)	NC_000002.11:g.179476842G>A	(Likely) pathogenic	2 labs	5dfbbfd995
14:51058323 ATL1 T>C	14	51058323	51058323	T	C	ATL1	c.488T>C	NM_001127713.1	NP_001121185.1:p.(Val163Ala)	NC_000014.8:g.51058323T>C	(Likely) pathogenic	2 labs	5e01dff555
2:152373047 NEB G>A	2	152373047	152373047	G	A	NEB	c.22936C>T	NM_001271208.2	NP_001258137.2:p.(Arg7646Ter)	NC_000002.11:g.152373047G>A	(Likely) pathogenic	2 labs	5e1c01efac
21:46929255 COL18A1 G>A	21	46929255	46929255	G	A	COL18A1	c.4486-15G>A	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46929255G>A	(Likely) benign	2 labs	5e4032c515
9:137582774 COL5A1 C>T	9	137582774	137582774	C	T	COL5A1	c.126C>T	NM_000093.5	NP_000084.3:p.(Leu42=)	NC_000009.11:g.137582774C>T	(Likely) benign	3 labs	5e241e9639
3:53757599 CACNA1D C>T	3	53757599	53757599	C	T	CACNA1D	c.1865C>T	NM_000720.4	NP_000711.1:p.(Thr622Met)	NC_000003.11:g.53757599C>T	VUS	3 labs	5e2691ab58
5:156186209 SGCD T>C	5	156186209	156186209	T	C	SGCD	c.700-19T>C	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.156186209T>C	(Likely) benign	3 labs	5e376b1708
2:15506766 NBAS G>T	2	15506766	15506766	G	T	NBAS	c.3755C>A	NM_015909.4	NP_056993.2:p.(Ser1252Tyr)	NC_000002.11:g.15506766G>T	(Likely) benign	2 labs	5e4b45798d
14:81574959 TSHR A>G	14	81574959	81574959	A	G	TSHR	c.759A>G	NM_001142626.3	NP_001136098.1:p.(Leu253=)	NC_000014.8:g.81574959A>G	(Likely) benign	2 labs	5e50530fb1
22:29885016 NEFH G>A	22	29885016	29885016	G	A	NEFH	c.1387G>A	NM_021076.4	NP_066554.2:p.(Glu463Lys)	NC_000022.10:g.29885016G>A	(Likely) benign	2 labs	5e52817fb9
1:40770204 COL9A2 G>A	1	40770204	40770204	G	A	COL9A2	c.1162-3C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40770204G>A	(Likely) benign	2 labs	5e5c679797
4:79350352 FRAS1 G>A	4	79350352	79350352	G	A	FRAS1	c.4815G>A	NM_025074.7	NP_079350.5:p.(Ala1605=)	NC_000004.11:g.79350352G>A	(Likely) benign	2 labs	5e60b835ae
11:47355138 MYBPC3 C>T	11	47355138	47355138	C	T	MYBPC3	c.3160G>A	NM_000256.3	NP_000247.2:p.(Asp1054Asn)	NC_000011.9:g.47355138C>T	VUS	2 labs	5e64b89fd4
15:23890609 MAGEL2 C>G	15	23890609	23890609	C	G	MAGEL2	c.2281G>C	NM_019066.5	NP_061939.3:p.(Ala761Pro)	NC_000015.9:g.23890609C>G	(Likely) benign	4 labs	5e712e0c2a
2:179587546 TTN A>G	2	179587546	179587546	A	G	TTN	c.22080T>C	NM_001267550.2	NP_001254479.2:p.(Asp7360=)	NC_000002.11:g.179587546A>G	(Likely) benign	2 labs	5e714496d4
1:235602230 TBCE C>G	1	235602230	235602230	C	G	TBCE	c.1416C>G	NM_001287801.2	NP_001274730.1:p.(Leu472=)	NC_000001.10:g.235602230C>G	(Likely) benign	2 labs	5e7b6968ee
8:145738604 RECQL4 G>A	8	145738604	145738604	G	A	RECQL4	c.2460C>T	NM_004260.4	NP_004251.4:p.(Pro820=)	NC_000008.10:g.145738604G>A	(Likely) benign	4 labs	5e88413363
1:235922583 LYST G>A	1	235922583	235922583	G	A	LYST	c.6570C>T	NM_001301365.1	NP_001288294.1:p.(Val2190=)	NC_000001.10:g.235922583G>A	(Likely) benign	2 labs	5e91d04518
13:32893377 BRCA2 T>G	13	32893377	32893377	T	G	BRCA2	c.231T>G	NM_000059.4	NP_000050.3:p.(Thr77=)	NC_000013.10:g.32893377T>G	(Likely) benign	5 labs	5ea1ac7939
1:152277415 FLG G>C	1	152277415	152277415	G	C	FLG	c.9947C>G	NM_002016.2	NP_002007.1:p.(Ser3316Ter)	NC_000001.10:g.152277415G>C	(Likely) pathogenic	4 labs	5eab7280ce
5:58334716 PDE4D C>T	5	58334716	58334716	C	T	PDE4D	c.123G>A	NM_001364604.1	NP_001351533.1:p.(Arg41=)	NC_000005.9:g.58334716C>T	(Likely) benign	2 labs	5eadd9e057
16:70302226 AARS1 T>C	16	70302226	70302226	T	C	AARS1	c.1019A>G	NM_001605.3	NP_001596.2:p.(Asn340Ser)	NC_000016.9:g.70302226T>C	VUS	3 labs	5eb35e4427
9:139405584 NOTCH1 C>T	9	139405584	139405584	C	T	NOTCH1	c.2587+20G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405584C>T	(Likely) benign	2 labs	5eb7cfd334
3:48508441 TREX1 C>T	3	48508441	48508441	C	T	TREX1	c.357C>T	NM_007248.5	NP_009179.2:p.(Tyr119=)	NC_000003.11:g.48508441C>T	(Likely) benign	2 labs	5ebbe568bd
6:137519297 IFNGR1 G>A	6	137519297	137519297	G	A	IFNGR1	c.1341C>T	NM_000416.3	NP_000407.1:p.(Thr447=)	NC_000006.11:g.137519297G>A	(Likely) benign	3 labs	5ec1db44e7
1:216420190 USH2A C>T	1	216420190	216420190	C	T	USH2A	c.2546G>A	NM_206933.4	NP_996816.3:p.(Cys849Tyr)	NC_000001.10:g.216420190C>T	(Likely) benign	2 labs	5ec200c011
16:2135260 TSC2 C>T	16	2135260	2135260	C	T	TSC2	c.4599C>T	NM_000548.5	NP_000539.2:p.(Leu1533=)	NC_000016.9:g.2135260C>T	(Likely) benign	2 labs	5ec77c3af4
21:34030141 SYNJ1 C>T	21	34030141	34030141	C	T	SYNJ1	c.2346G>A	NM_203446.3	NP_982271.3:p.(Pro782=)	NC_000021.8:g.34030141C>T	(Likely) benign	3 labs	5edfa0bb99
X:31284928 DMD C>T	X	31284928	31284928	C	T	DMD	c.19G>A	NM_004015.3	NP_004006.1:p.(Gly7Ser)	NC_000023.10:g.31284928C>T	(Likely) benign	5 labs	5ee263102e
15:68504005 CLN6 G>A	15	68504005	68504005	G	A	CLN6	c.486+8C>T	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68504005G>A	(Likely) benign	2 labs	5ef4be0428
4:140255325 NAA15 CA>C	4	140255325	140255326	CA	C	NAA15	c.55-2del	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140255326del	(Likely) pathogenic	2 labs	5ef8d0c8b8
6:56480500 DST T>C	6	56480500	56480500	T	C	DST	c.7765A>G	NM_001723.7	NP_001714.1:p.(Ile2589Val)	NC_000006.11:g.56480500T>C	(Likely) benign	2 labs	5efb0834b1
6:7585081 DSP A>G	6	7585081	7585081	A	G	DSP	c.7586A>G	NM_004415.4	NP_004406.2:p.(Asp2529Gly)	NC_000006.11:g.7585081A>G	VUS	2 labs	5efb13116e
3:123456327 MYLK G>A	3	123456327	123456327	G	A	MYLK	c.652C>T	NM_053025.4	NP_444253.3:p.(Leu218=)	NC_000003.11:g.123456327G>A	(Likely) benign	3 labs	5efe688576
11:47367930 MYBPC3 C>T	11	47367930	47367930	C	T	MYBPC3	c.927-9G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367930C>T	(Likely) pathogenic	4 labs	5f0b1e2ee8
2:152402515 NEB TA>T	2	152402515	152402532	TA	T	NEB	c.20467-4del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402532del	(Likely) benign	3 labs	5f13d97d45
11:6650717 DCHS1 C>T	11	6650717	6650717	C	T	DCHS1	c.5127G>A	NM_003737.4	NP_003728.1:p.(Leu1709=)	NC_000011.9:g.6650717C>T	(Likely) benign	2 labs	5f1782f982
19:12759091 MAN2B1 G>C	19	12759091	12759091	G	C	MAN2B1	c.2562C>G	NM_000528.4	NP_000519.2:p.(Ala854=)	NC_000019.9:g.12759091G>C	(Likely) benign	2 labs	5f26a5ac30
22:38370168 SOX10 C>T	22	38370168	38370168	C	T	SOX10	c.735G>A	NM_006941.4	NP_008872.1:p.(Pro245=)	NC_000022.10:g.38370168C>T	(Likely) benign	2 labs	5f289b08b1
2:73678259 ALMS1 A>G	2	73678259	73678259	A	G	ALMS1	c.4608A>G	NM_015120.4	NP_055935.4:p.(Gln1536=)	NC_000002.11:g.73678259A>G	(Likely) benign	2 labs	5f32cff5e1
8:30938648 WRN C>T	8	30938648	30938648	C	T	WRN	c.1105C>T	NM_000553.6	NP_000544.2:p.(Arg369Ter)	NC_000008.10:g.30938648C>T	(Likely) pathogenic	3 labs	5f3bc10412
5:148389845 SH3TC2 C>T	5	148389845	148389845	C	T	SH3TC2	c.3315G>A	NM_024577.4	NP_078853.2:p.(Val1105=)	NC_000005.9:g.148389845C>T	(Likely) benign	2 labs	5f5be73bd4
1:196712626 CFH G>C	1	196712626	196712626	G	C	CFH	c.3178G>C	NM_000186.4	NP_000177.2:p.(Val1060Leu)	NC_000001.10:g.196712626G>C	(Likely) benign	4 labs	5f59aecd1a
17:29508819 NF1 AT>A	17	29508819	29508835	AT	A	NF1	c.730+32del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508835del	(Likely) benign	2 labs	5f5bd55ea8
5:176718976 NSD1 G>C	5	176718976	176718976	G	C	NSD1	c.6280G>C	NM_022455.5	NP_071900.2:p.(Glu2094Gln)	NC_000005.9:g.176718976G>C	VUS	2 labs	5f68c74031
16:75663379 KARS1 T>C	16	75663379	75663379	T	C	KARS1	c.1569A>G	NM_001130089.2	NP_001123561.1:p.(Ile523Met)	NC_000016.9:g.75663379T>C	VUS	2 labs	5f6d4da8b0
11:2868977 KCNQ1 G>A	11	2868977	2868977	G	A	KCNQ1	c.1795-20G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2868977G>A	(Likely) benign	2 labs	5f720a74eb
9:136403562 ADAMTSL2 G>T	9	136403562	136403562	G	T	ADAMTSL2	c.309+16G>T	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136403562G>T	(Likely) benign	2 labs	5f7f0fcbd6
X:73641569 SLC16A2 T>C	X	73641569	73641569	T	C	SLC16A2	c.97T>C	NM_006517.5	NP_006508.2:p.(Ser33Pro)	NC_000023.10:g.73641569T>C	(Likely) benign	2 labs	5f81472c26
19:1615796 TCF3 G>A	19	1615796	1615796	G	A	TCF3	c.1475C>T	NM_003200.5	NP_003191.1:p.(Ala492Val)	NC_000019.9:g.1615796G>A	(Likely) benign	2 labs	5f8352437c
3:38597867 SCN5A C>T	3	38597867	38597867	C	T	SCN5A	c.4437+65G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597867C>T	(Likely) benign	2 labs	5f8a752846
2:145154073 ZEB2 G>A	2	145154073	145154073	G	A	ZEB2	c.2973C>T	NM_014795.4	NP_055610.1:p.(Ile991=)	NC_000002.11:g.145154073G>A	(Likely) benign	2 labs	5f8f7b93af
2:1677464 PXDN G>A	2	1677464	1677464	G	A	PXDN	c.969C>T	NM_012293.3	NP_036425.1:p.(Ala323=)	NC_000002.11:g.1677464G>A	(Likely) benign	2 labs	5f92652117
18:34205520 FHOD3 C>G	18	34205520	34205520	C	G	FHOD3	c.1004C>G	NM_025135.5	NP_079411.2:p.(Pro335Arg)	NC_000018.9:g.34205520C>G	(Likely) benign	2 labs	5f96de5025
6:110113765 FIG4 T>TC	6	110113765	110113766	T	TC	FIG4	c.2377-20_2377-19insC	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113765_110113766insC	(Likely) benign	2 labs	5f9e337b1d
15:89868894 POLG C>T	15	89868894	89868894	C	T	POLG	c.1736G>A	NM_002693.3	NP_002684.1:p.(Arg579Gln)	NC_000015.9:g.89868894C>T	VUS	2 labs	5faad811f5
17:40714804 COASY C>A	17	40714804	40714804	C	A	COASY	c.164C>A	NM_025233.7	NP_079509.5:p.(Ser55Tyr)	NC_000017.10:g.40714804C>A	(Likely) benign	2 labs	5fbafbc62e
2:29295582 PCARE A>AT	2	29295582	29295584	A	AT	PCARE	c.1545dup	NM_001029883.3	NP_001025054.1:p.(Ser516IlefsTer5)	NC_000002.11:g.29295584dup	(Likely) pathogenic	2 labs	5fc91f4cfa
11:8118874 TUB A>G	11	8118874	8118874	A	G	TUB	c.952A>G	NM_003320.5	NP_003311.2:p.(Ile318Val)	NC_000011.9:g.8118874A>G	(Likely) benign	3 labs	5fcbfe724b
18:6997810 LAMA1 G>A	18	6997810	6997810	G	A	LAMA1	c.4737C>T	NM_005559.4	NP_005550.2:p.(Asn1579=)	NC_000018.9:g.6997810G>A	(Likely) benign	2 labs	5fdab13f78
7:91630179 AKAP9 A>G	7	91630179	91630179	A	G	AKAP9	c.948A>G	NM_005751.5	NP_005742.4:p.(Val316=)	NC_000007.13:g.91630179A>G	(Likely) benign	3 labs	5fdb9517d3
17:78064145 CCDC40 A>ACAC	17	78064145	78064146	A	ACAC	CCDC40	c.3040_3041insCAC	NM_001243342.2	NP_001230271.1:p.(Thr1013dup)	NC_000017.10:g.78064145_78064146insCAC	(Likely) benign	3 labs	5fe7a6dd05
2:189852832 COL3A1 CT>C	2	189852832	189852833	CT	C	COL3A1	c.555del	NM_000090.4	NP_000081.2:p.(Gly186ValfsTer36)	NC_000002.11:g.189852833del	(Likely) pathogenic	2 labs	5fe40460cd
6:112460442 LAMA4 G>A	6	112460442	112460442	G	A	LAMA4	c.3162C>T	NM_001105206.3	NP_001098676.2:p.(Gly1054=)	NC_000006.11:g.112460442G>A	(Likely) benign	2 labs	5ff64f8730
2:179593761 TTN T>C	2	179593761	179593761	T	C	TTN	c.19004A>G	NM_001267550.2	NP_001254479.2:p.(Asp6335Gly)	NC_000002.11:g.179593761T>C	(Likely) benign	4 labs	5ffd4aab86
5:149495360 PDGFRB G>A	5	149495360	149495360	G	A	PDGFRB	c.3287C>T	NM_002609.4	NP_002600.1:p.(Ala1096Val)	NC_000005.9:g.149495360G>A	(Likely) benign	3 labs	5ffe5616a2
2:196762491 DNAH7 TA>T	2	196762491	196762508	TA	T	DNAH7	c.4549-3del	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196762508del	(Likely) benign	2 labs	600370b3df
17:46022065 PNPO G>A	17	46022065	46022065	G	A	PNPO	c.347G>A	NM_018129.4	NP_060599.1:p.(Arg116Gln)	NC_000017.10:g.46022065G>A	(Likely) benign	2 labs	6012efd1b6
11:68115489 LRP5 A>G	11	68115489	68115489	A	G	LRP5	c.266A>G	NM_002335.4	NP_002326.2:p.(Gln89Arg)	NC_000011.9:g.68115489A>G	(Likely) benign	2 labs	6013d1dc70
16:16276292 ABCC6 T>C	16	16276292	16276292	T	C	ABCC6	c.2224A>G	NM_001171.6	NP_001162.5:p.(Ile742Val)	NC_000016.9:g.16276292T>C	(Likely) benign	3 labs	60176b880f
3:123426738 MYLK G>A	3	123426738	123426738	G	A	MYLK	c.2253C>T	NM_053025.4	NP_444253.3:p.(Thr751=)	NC_000003.11:g.123426738G>A	(Likely) benign	3 labs	602301ff33
16:77401515 ADAMTS18 C>T	16	77401515	77401515	C	T	ADAMTS18	c.601G>A	NM_199355.4	NP_955387.1:p.(Val201Ile)	NC_000016.9:g.77401515C>T	(Likely) benign	2 labs	6024b5f2ff
14:76427388 TGFB3 G>A	14	76427388	76427388	G	A	TGFB3	c.958C>T	NM_003239.5	NP_003230.1:p.(Leu320Phe)	NC_000014.8:g.76427388G>A	VUS	2 labs	602aa40751
12:2760794 CACNA1C G>A	12	2760794	2760794	G	A	CACNA1C	c.4000G>A	NM_001129829.2	NP_001123301.1:p.(Asp1334Asn)	NC_000012.11:g.2760794G>A	(Likely) benign	2 labs	603503b3f7
6:131948816 MED23 T>TAAA	6	131948816	131948830	T	TAAA	MED23	c.40-7_40-5dup	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131948828_131948830dup	(Likely) benign	2 labs	60372c38e5
X:32509526 DMD G>A	X	32509526	32509526	G	A	DMD	c.2490C>T	NM_004006.3	NP_003997.2:p.(Asn830=)	NC_000023.10:g.32509526G>A	(Likely) benign	5 labs	60436fc9ae
14:64644205 SYNE2 T>C	14	64644205	64644205	T	C	SYNE2	c.17556+4T>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64644205T>C	(Likely) benign	3 labs	6047307da7
X:49087013 CACNA1F CG>C	X	49087013	49087015	CG	C	CACNA1F	c.579del	NM_005183.4	NP_005174.2:p.(Gly195GlufsTer8)	NC_000023.10:g.49087015del	(Likely) pathogenic	2 labs	605b808162
14:50616878 SOS2 G>A	14	50616878	50616878	G	A	SOS2	c.2232C>T	NM_006939.4	NP_008870.2:p.(Asn744=)	NC_000014.8:g.50616878G>A	(Likely) benign	2 labs	60647d35e3
X:119562407 LAMP2 T>C	X	119562407	119562407	T	C	LAMP2	c.1168A>G	NM_001122606.1	NP_001116078.1:p.(Ile390Val)	NC_000023.10:g.119562407T>C	(Likely) benign	3 labs	606b2aa0fd
9:139418407 NOTCH1 C>T	9	139418407	139418407	C	T	NOTCH1	c.165G>A	NM_017617.5	NP_060087.3:p.(Pro55=)	NC_000009.11:g.139418407C>T	(Likely) benign	2 labs	607d38e3e6
6:87966773 ZNF292 T>A	6	87966773	87966773	T	A	ZNF292	c.3426T>A	NM_015021.3	NP_055836.1:p.(Ala1142=)	NC_000006.11:g.87966773T>A	(Likely) benign	2 labs	607dfc7aba
16:23637541 PALB2 C>T	16	23637541	23637541	C	T	PALB2	c.2748+16G>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23637541C>T	(Likely) benign	3 labs	607ec5f19d
14:76425631 TGFB3 G>A	14	76425631	76425631	G	A	TGFB3	c.1138C>T	NM_003239.5	NP_003230.1:p.(Pro380Ser)	NC_000014.8:g.76425631G>A	VUS	3 labs	60832cdb8c
14:105174186 INF2 C>T	14	105174186	105174186	C	T	INF2	c.1582C>T	NM_022489.4	NP_071934.3:p.(Pro528Ser)	NC_000014.8:g.105174186C>T	(Likely) benign	2 labs	60891b9a98
1:40780067 COL9A2 A>G	1	40780067	40780067	A	G	COL9A2	c.151-8T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40780067A>G	(Likely) benign	2 labs	608b181296
10:73572093 CDH23 C>A	10	73572093	73572093	C	A	CDH23	c.45C>A	NM_001171935.1	NP_001165406.1:p.(Thr15=)	NC_000010.10:g.73572093C>A	(Likely) benign	2 labs	608baa75dc
11:108138041 ATM C>T	11	108138041	108138041	C	T	ATM	c.2610C>T	NM_000051.4	NP_000042.3:p.(Asn870=)	NC_000011.9:g.108138041C>T	(Likely) benign	4 labs	6098048d7b
X:70389354 NLGN3 A>G	X	70389354	70389354	A	G	NLGN3	c.1954A>G	NM_181303.2	NP_851820.1:p.(Thr652Ala)	NC_000023.10:g.70389354A>G	(Likely) benign	3 labs	609ba3923a
9:135780988 TSC1 C>T	9	135780988	135780988	C	T	TSC1	c.1977G>A	NM_000368.5	NP_000359.1:p.(Ala659=)	NC_000009.11:g.135780988C>T	(Likely) benign	2 labs	60a1a88694
5:95757592 PCSK1 G>A	5	95757592	95757592	G	A	PCSK1	c.612C>T	NM_000439.5	NP_000430.3:p.(Asn204=)	NC_000005.9:g.95757592G>A	(Likely) benign	2 labs	60a362c3ba
10:77807027 LRMDA T>C	10	77807027	77807027	T	C	LRMDA	c.280T>C	NM_032024.5	NP_114413.1:p.(Leu94=)	NC_000010.10:g.77807027T>C	(Likely) benign	2 labs	60a55c9c6e
9:139410000 NOTCH1 C>T	9	139410000	139410000	C	T	NOTCH1	c.1838G>A	NM_017617.5	NP_060087.3:p.(Arg613His)	NC_000009.11:g.139410000C>T	VUS	2 labs	60a5e50166
7:91729127 AKAP9 A>G	7	91729127	91729127	A	G	AKAP9	c.10840A>G	NM_005751.5	NP_005742.4:p.(Met3614Val)	NC_000007.13:g.91729127A>G	(Likely) benign	3 labs	60aadd8ade
17:40557035 CAVIN1 C>T	17	40557035	40557035	C	T	CAVIN1	c.843G>A	NM_012232.6	NP_036364.2:p.(Leu281=)	NC_000017.10:g.40557035C>T	(Likely) benign	2 labs	60af2303d1
3:38592527 SCN5A G>A	3	38592527	38592527	G	A	SCN5A	c.5336C>T	NM_001099404.2	NP_001092874.1:p.(Thr1779Met)	NC_000003.11:g.38592527G>A	VUS	4 labs	60b363e668
3:123451727 MYLK G>A	3	123451727	123451727	G	A	MYLK	c.1516+16C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123451727G>A	(Likely) benign	3 labs	60b4141b31
10:55568589 PCDH15 C>T	10	55568589	55568589	C	T	PCDH15	c.5236G>A	NM_001142769.3	NP_001136241.1:p.(Gly1746Ser)	NC_000010.10:g.55568589C>T	(Likely) benign	2 labs	60b7746aaa
6:152671919 SYNE1 G>GA	6	152671919	152671928	G	GA	SYNE1	c.11581-15dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152671928dup	(Likely) benign	4 labs	60b568784f
2:29296388 PCARE A>T	2	29296388	29296388	A	T	PCARE	c.740T>A	NM_001029883.3	NP_001025054.1:p.(Val247Asp)	NC_000002.11:g.29296388A>T	VUS	3 labs	60d24a3b17
19:33167295 RGS9BP G>C	19	33167295	33167295	G	C	RGS9BP	c.126G>C	NM_207391.3	NP_997274.2:p.(Lys42Asn)	NC_000019.9:g.33167295G>C	VUS	2 labs	60d4ebc5c9
6:123837327 TRDN CCTTTTT>C	6	123837327	123837343	CCTTTTT	C	TRDN	c.503_508del	NM_006073.4	NP_006064.2:p.(Glu168_Lys169del)	NC_000006.11:g.123837338_123837343del	(Likely) benign	3 labs	60e64ec155
1:154580458 ADAR C>A	1	154580458	154580458	C	A	ADAR	c.15+10G>T	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154580458C>A	(Likely) benign	2 labs	60f661b45d
14:81562998 TSHR T>C	14	81562998	81562998	T	C	TSHR	c.561T>C	NM_000369.5	NP_000360.2:p.(Asn187=)	NC_000014.8:g.81562998T>C	(Likely) benign	2 labs	610d20446c
15:77087785 SCAPER T>C	15	77087785	77087785	T	C	SCAPER	c.-286-4A>G	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.77087785T>C	(Likely) benign	2 labs	611790fa12
2:48033890 MSH6 C>CTTCT	2	48033890	48033893	C	CTTCT	MSH6	c.4002-26_4002-25insCTTT	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033892_48033893insCTTT	(Likely) benign	2 labs	611389b3fe
3:10183876 VHL G>C	3	10183876	10183876	G	C	VHL	c.340+5G>C	NM_000551.4	NP_000542.1:p.?	NC_000003.11:g.10183876G>C	(Likely) benign	4 labs	611779c32a
1:114439059 AP4B1 C>A	1	114439059	114439059	C	A	AP4B1	c.1331G>T	NM_006594.5	NP_006585.2:p.(Gly444Val)	NC_000001.10:g.114439059C>A	VUS	3 labs	612601cbdc
1:216348691 USH2A T>G	1	216348691	216348691	T	G	USH2A	c.4530A>C	NM_206933.4	NP_996816.3:p.(Pro1510=)	NC_000001.10:g.216348691T>G	(Likely) benign	2 labs	61262ae594
6:152470752 SYNE1 C>A	6	152470752	152470752	C	A	SYNE1	c.24502G>T	NM_182961.4	NP_892006.3:p.(Ala8168Ser)	NC_000006.11:g.152470752C>A	(Likely) benign	2 labs	6127d841ec
17:63154436 RGS9 G>A	17	63154436	63154436	G	A	RGS9	c.178G>A	NM_003835.4	NP_003826.2:p.(Val60Ile)	NC_000017.10:g.63154436G>A	(Likely) benign	2 labs	6130669595
X:152990970 ABCD1 C>T	X	152990970	152990970	C	T	ABCD1	c.249C>T	NM_000033.4	NP_000024.2:p.(Phe83=)	NC_000023.10:g.152990970C>T	(Likely) benign	2 labs	613b09437b
6:7565754 DSP G>A	6	7565754	7565754	G	A	DSP	c.939+1G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565754G>A	(Likely) pathogenic	2 labs	6142aed856
20:10394147 MKKS C>T	20	10394147	10394147	C	T	MKKS	c.16G>A	NM_018848.3	NP_061336.1:p.(Ala6Thr)	NC_000020.10:g.10394147C>T	(Likely) benign	2 labs	6161e26f12
X:106885637 PRPS1 G>A	X	106885637	106885637	G	A	PRPS1	c.447G>A	NM_002764.4	NP_002755.1:p.(Pro149=)	NC_000023.10:g.106885637G>A	(Likely) benign	2 labs	6165aa80d7
8:62430094 ASPH CG>C	8	62430094	62430095	CG	C	ASPH	c.2118del	NM_004318.4	NP_004309.2:p.(Asn706LysfsTer31)	NC_000008.10:g.62430095del	(Likely) pathogenic	2 labs	6166fa8c63
12:44172041 IRAK4 C>T	12	44172041	44172041	C	T	IRAK4	c.505C>T	NM_001351338.2	NP_001338267.1:p.(Gln169Ter)	NC_000012.11:g.44172041C>T	(Likely) pathogenic	3 labs	6167d0bbe6
7:81593529 CACNA2D1 T>A	7	81593529	81593529	T	A	CACNA2D1	c.2721A>T	NM_000722.4	NP_000713.2:p.(Ala907=)	NC_000007.13:g.81593529T>A	(Likely) benign	2 labs	616a068f58
10:55582512 PCDH15 T>G	10	55582512	55582512	T	G	PCDH15	c.4995A>C	NM_001142763.2	NP_001136235.1:p.(Ser1665=)	NC_000010.10:g.55582512T>G	(Likely) benign	2 labs	6178781d8e
1:218578497 TGFB2 C>G	1	218578497	218578497	C	G	TGFB2	c.347-14C>G	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218578497C>G	(Likely) benign	2 labs	617aeac989
16:15829201 MYH11 G>T	16	15829201	15829201	G	T	MYH11	c.3527+22C>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15829201G>T	(Likely) benign	2 labs	61818d7a6a
6:99936163 USP45 T>C	6	99936163	99936163	T	C	USP45	c.627A>G	NM_001346021.3	NP_001332950.1:p.(Ala209=)	NC_000006.11:g.99936163T>C	(Likely) benign	2 labs	6185e06011
6:135749885 AHI1 C>T	6	135749885	135749885	C	T	AHI1	c.2505G>A	NM_001134831.2	NP_001128303.1:p.(Arg835=)	NC_000006.11:g.135749885C>T	(Likely) benign	3 labs	61958dd689
2:179528840 TTN G>C	2	179528840	179528840	G	C	TTN	c.36281-15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528840G>C	(Likely) benign	2 labs	619624fd83
14:23869561 MYH6 G>A	14	23869561	23869561	G	A	MYH6	c.1485C>T	NM_002471.4	NP_002462.2:p.(Phe495=)	NC_000014.8:g.23869561G>A	(Likely) benign	3 labs	61a4b30e12
2:179501491 TTN C>T	2	179501491	179501491	C	T	TTN	c.40963G>A	NM_001267550.2	NP_001254479.2:p.(Glu13655Lys)	NC_000002.11:g.179501491C>T	VUS	2 labs	61a6fbff27
X:39913225 BCOR G>A	X	39913225	39913225	G	A	BCOR	c.4788C>T	NM_017745.6	NP_060215.4:p.(Asp1596=)	NC_000023.10:g.39913225G>A	(Likely) benign	2 labs	61aaa30ac1
9:100617077 FOXE1 G>A	9	100617077	100617077	G	A	FOXE1	c.881G>A	NM_004473.4	NP_004464.2:p.(Ser294Asn)	NC_000009.11:g.100617077G>A	VUS	2 labs	61f85e9477
19:42799307 CIC A>C	19	42799307	42799307	A	C	CIC	c.7518A>C	NM_001304815.2	NP_001291744.1:p.(Pro2506=)	NC_000019.9:g.42799307A>C	(Likely) benign	2 labs	61ac0e0545
5:149457683 CSF1R T>C	5	149457683	149457683	T	C	CSF1R	c.721A>G	NM_005211.4	NP_005202.2:p.(Asn241Asp)	NC_000005.9:g.149457683T>C	(Likely) benign	3 labs	61bdef80f6
8:145741783 RECQL4 T>G	8	145741783	145741783	T	G	RECQL4	c.720A>C	NM_004260.4	NP_004251.4:p.(Ser240=)	NC_000008.10:g.145741783T>G	(Likely) benign	2 labs	61d00f9ef7
1:10364260 KIF1B A>G	1	10364260	10364260	A	G	KIF1B	c.3017A>G	NM_183416.4	NP_904325.2:p.(Glu1006Gly)	NC_000001.10:g.10364260A>G	(Likely) benign	2 labs	61d59906a5
2:179413676 TTN T>C	2	179413676	179413676	T	C	TTN	c.84973A>G	NM_133378.4	NP_596869.4:p.(Lys28325Glu)	NC_000002.11:g.179413676T>C	VUS	2 labs	61e750cb85
10:61956386 ANK3 G>GA	10	61956386	61956398	G	GA	ANK3	c.1690-4dup	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956398dup	(Likely) benign	2 labs	61f04266bd
3:148901406 CP AC>A	3	148901406	148901407	AC	A	CP	c.2286-15del	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901407del	(Likely) benign	3 labs	62036a331f
8:10480463 RP1L1 T>C	8	10480463	10480463	T	C	RP1L1	c.249A>G	NM_178857.6	NP_849188.4:p.(Thr83=)	NC_000008.10:g.10480463T>C	(Likely) benign	2 labs	6207730246
6:56482940 DST G>A	6	56482940	56482940	G	A	DST	c.5892C>T	NM_001723.7	NP_001714.1:p.(Thr1964=)	NC_000006.11:g.56482940G>A	(Likely) benign	3 labs	620ab76f0c
17:10543122 MYH3 T>TA	17	10543122	10543132	T	TA	MYH3	c.2683-4dup	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543132dup	(Likely) benign	2 labs	6214f01851
2:179659629 TTN C>A	2	179659629	179659629	C	A	TTN	c.1245+20G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659629C>A	(Likely) benign	4 labs	6238be3ce9
6:33141161 COL11A2 A>G	6	33141161	33141161	A	G	COL11A2	c.2700T>C	NM_080680.3	NP_542411.2:p.(Asp900=)	NC_000006.11:g.33141161A>G	(Likely) benign	4 labs	6244dafd8d
11:121485599 SORL1 T>A	11	121485599	121485599	T	A	SORL1	c.5439T>A	NM_003105.6	NP_003096.2:p.(His1813Gln)	NC_000011.9:g.121485599T>A	(Likely) benign	2 labs	624d0b4bc5
5:33982368 SLC45A2 C>CCT	5	33982368	33982370	C	CCT	SLC45A2	c.533_534dup	NM_001012509.4	NP_001012527.2:p.(Gly179ArgfsTer23)	NC_000005.9:g.33982369_33982370dup	(Likely) pathogenic	2 labs	625a24e5f8
5:112151320 APC A>G	5	112151320	112151320	A	G	APC	c.933+30A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112151320A>G	(Likely) benign	4 labs	6273be4da6
7:618938 PRKAR1B A>G	7	618938	618938	A	G	PRKAR1B	c.846T>C	NM_001164761.2	NP_001158233.1:p.(Ile282=)	NC_000007.13:g.618938A>G	(Likely) benign	2 labs	627c49cda8
2:179647562 TTN A>C	2	179647562	179647562	A	C	TTN	c.3071T>G	NM_001267550.2	NP_001254479.2:p.(Val1024Gly)	NC_000002.11:g.179647562A>C	VUS	3 labs	628355b0fc
12:65110530 GNS A>G	12	65110530	65110530	A	G	GNS	c.1650T>C	NM_002076.4	NP_002067.1:p.(His550=)	NC_000012.11:g.65110530A>G	(Likely) benign	2 labs	62945d73fc
16:15818647 MYH11 G>C	16	15818647	15818647	G	C	MYH11	c.3994C>G	NM_001040113.2	NP_001035202.1:p.(Gln1332Glu)	NC_000016.9:g.15818647G>C	(Likely) benign	3 labs	629aaff0b0
18:29126431 DSG2 G>A	18	29126431	29126431	G	A	DSG2	c.3082G>A	NM_001943.5	NP_001934.2:p.(Gly1028Ser)	NC_000018.9:g.29126431G>A	(Likely) benign	2 labs	62a7359cfe
11:6655433 DCHS1 G>A	11	6655433	6655433	G	A	DCHS1	c.1902C>T	NM_003737.4	NP_003728.1:p.(His634=)	NC_000011.9:g.6655433G>A	(Likely) benign	2 labs	62be68c8d6
2:179582760 TTN T>C	2	179582760	179582760	T	C	TTN	c.24973A>G	NM_001267550.2	NP_001254479.2:p.(Lys8325Glu)	NC_000002.11:g.179582760T>C	(Likely) benign	5 labs	62d0d268da
17:6428686 PITPNM3 G>A	17	6428686	6428686	G	A	PITPNM3	c.216C>T	NM_031220.4	NP_112497.2:p.(Asp72=)	NC_000017.10:g.6428686G>A	(Likely) benign	2 labs	62cdaf7288
22:24109774 CHCHD10 T>G	22	24109774	24109774	T	G	CHCHD10	c.48A>C	NM_001301339.2	NP_001288268.1:p.(Pro16=)	NC_000022.10:g.24109774T>G	(Likely) benign	2 labs	62e2bec224
19:47111722 CALM3 CT>C	19	47111722	47111725	CT	C	CALM3	c.179-14del	NM_005184.4	NP_005175.2:p.?	NC_000019.9:g.47111725del	(Likely) benign	2 labs	6302dcbeb2
9:137674521 COL5A1 C>T	9	137674521	137674521	C	T	COL5A1	c.2439C>T	NM_000093.5	NP_000084.3:p.(Asp813=)	NC_000009.11:g.137674521C>T	(Likely) benign	3 labs	6311d78042
9:95237024 ASPN C>CTCA	9	95237024	95237068	C	CTCA	ASPN	c.147_152dup	NM_017680.5	NP_060150.4:p.(Asp49_Asp50dup)	NC_000009.11:g.95237066_95237068dup	(Likely) benign	2 labs	63196ddeee
2:121742222 GLI2 C>T	2	121742222	121742222	C	T	GLI2	c.1859C>T	NM_001371271.1	NP_001358200.1:p.(Thr620Met)	NC_000002.11:g.121742222C>T	(Likely) benign	3 labs	631e8bac77
5:73072504 ARHGEF28 A>C	5	73072504	73072504	A	C	ARHGEF28	c.823A>C	NM_001080479.3	NP_001073948.2:p.(Arg275=)	NC_000005.9:g.73072504A>C	(Likely) benign	2 labs	631ed484fe
2:179412259 TTN C>T	2	179412259	179412259	C	T	TTN	c.94094G>A	NM_001267550.2	NP_001254479.2:p.(Arg31365His)	NC_000002.11:g.179412259C>T	VUS	2 labs	6321fc82b8
1:5951013 NPHP4 C>T	1	5951013	5951013	C	T	NPHP4	c.2219G>A	NM_015102.5	NP_055917.1:p.(Arg740His)	NC_000001.10:g.5951013C>T	(Likely) benign	3 labs	6327d8e762
19:13370455 CACNA1A C>T	19	13370455	13370455	C	T	CACNA1A	c.4323G>A	NM_023035.3	NP_075461.2:p.(Lys1441=)	NC_000019.9:g.13370455C>T	(Likely) benign	3 labs	6331bec91b
15:89864125 POLG G>A	15	89864125	89864125	G	A	POLG	c.2853C>T	NM_002693.3	NP_002684.1:p.(Tyr951=)	NC_000015.9:g.89864125G>A	(Likely) benign	4 labs	63393c0ce2
2:15319147 NBAS C>T	2	15319147	15319147	C	T	NBAS	c.6805G>A	NM_015909.4	NP_056993.2:p.(Glu2269Lys)	NC_000002.11:g.15319147C>T	(Likely) benign	3 labs	634700b38f
17:41246725 BRCA1 C>T	17	41246725	41246725	C	T	BRCA1	c.823G>A	NM_007294.4	NP_009225.1:p.(Gly275Ser)	NC_000017.10:g.41246725C>T	(Likely) benign	4 labs	6348b8ca10
2:179512140 TTN A>G	2	179512140	179512140	A	G	TTN	c.32594-1383T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179512140A>G	(Likely) benign	2 labs	63567b4fa9
22:19752609 TBX1 C>T	22	19752609	19752609	C	T	TBX1	c.813C>T	NM_080647.1	NP_542378.1:p.(Thr271=)	NC_000022.10:g.19752609C>T	(Likely) benign	2 labs	635f75a69d
2:179640532 TTN G>A	2	179640532	179640532	G	A	TTN	c.6059C>T	NM_001267550.2	NP_001254479.2:p.(Ser2020Phe)	NC_000002.11:g.179640532G>A	VUS	2 labs	636ecc28a2
10:94409586 KIF11 T>A	10	94409586	94409586	T	A	KIF11	c.2771-6T>A	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94409586T>A	(Likely) benign	2 labs	63739111d3
6:112471715 LAMA4 C>T	6	112471715	112471715	C	T	LAMA4	c.2171G>A	NM_001105206.3	NP_001098676.2:p.(Arg724Lys)	NC_000006.11:g.112471715C>T	(Likely) benign	5 labs	6384a53ae0
8:55541222 RP1 T>C	8	55541222	55541222	T	C	RP1	c.4780T>C	NM_006269.2	NP_006260.1:p.(Tyr1594His)	NC_000008.10:g.55541222T>C	VUS	2 labs	638236c8b9
12:1003757 WNK1 GCAACTAGTT>G	12	1003757	1003768	GCAACTAGTT	G	WNK1	c.6322_6330del	NM_001184985.2	NP_001171914.1:p.(Thr2108_Ser2110del)	NC_000012.11:g.1003760_1003768del	(Likely) benign	3 labs	63904b6390
18:44057516 LOXHD1 G>A	18	44057516	44057516	G	A	LOXHD1	c.6555C>T	NM_144612.7	NP_653213.6:p.(Ala2185=)	NC_000018.9:g.44057516G>A	(Likely) benign	2 labs	63938eb9f9
6:152686105 SYNE1 A>G	6	152686105	152686105	A	G	SYNE1	c.10022T>C	NM_182961.4	NP_892006.3:p.(Val3341Ala)	NC_000006.11:g.152686105A>G	(Likely) benign	3 labs	6396a66268
2:15601827 NBAS G>T	2	15601827	15601827	G	T	NBAS	c.2186C>A	NM_015909.4	NP_056993.2:p.(Ala729Glu)	NC_000002.11:g.15601827G>T	VUS	2 labs	639a658623
2:179429320 TTN A>G	2	179429320	179429320	A	G	TTN	c.81539T>C	NM_001267550.2	NP_001254479.2:p.(Ile27180Thr)	NC_000002.11:g.179429320A>G	(Likely) benign	3 labs	639e38e4e8
15:63358135 TPM1 G>A	15	63358135	63358135	G	A	TPM1	c.813G>A	NM_001365777.1	NP_001352706.1:p.(Ser271=)	NC_000015.9:g.63358135G>A	(Likely) benign	4 labs	63a1ce3813
7:116409690 MET TC>T	7	116409690	116409692	TC	T	MET	c.2638-7del	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116409692del	(Likely) benign	2 labs	63b055cb13
3:58140567 FLNB C>T	3	58140567	58140567	C	T	FLNB	c.6777C>T	NM_001164317.2	NP_001157789.1:p.(Ile2259=)	NC_000003.11:g.58140567C>T	(Likely) benign	2 labs	63b0c5f155
17:41219780 BRCA1 T>C	17	41219780	41219780	T	C	BRCA1	c.4987-68A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219780T>C	(Likely) benign	4 labs	63b443921d
2:44078891 ABCG8 G>A	2	44078891	44078891	G	A	ABCG8	c.491G>A	NM_022437.3	NP_071882.1:p.(Arg164Gln)	NC_000002.11:g.44078891G>A	VUS	2 labs	63b84d6c4c
15:34528323 SLC12A6 G>C	15	34528323	34528323	G	C	SLC12A6	c.3120C>G	NM_001365088.1	NP_001352017.1:p.(Thr1040=)	NC_000015.9:g.34528323G>C	(Likely) benign	2 labs	63bb376727
1:235971805 LYST C>T	1	235971805	235971805	C	T	LYST	c.2313G>A	NM_001301365.1	NP_001288294.1:p.(Gln771=)	NC_000001.10:g.235971805C>T	(Likely) benign	3 labs	63d0feb802
5:172660004 NKX2-5 C>T	5	172660004	172660004	C	T	NKX2-5	c.543G>A	NM_004387.4	NP_004378.1:p.(Gln181=)	NC_000005.9:g.172660004C>T	(Likely) benign	4 labs	63d7e250ef
6:75834860 COL12A1 G>A	6	75834860	75834860	G	A	COL12A1	c.6590C>T	NM_004370.6	NP_004361.3:p.(Thr2197Ile)	NC_000006.11:g.75834860G>A	(Likely) benign	2 labs	63d982953c
1:3342804 PRDM16 G>T	1	3342804	3342804	G	T	PRDM16	c.3284+15G>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342804G>T	(Likely) benign	3 labs	63da6cd2c1
7:92140324 PEX1 C>G	7	92140324	92140324	C	G	PEX1	c.897G>C	NM_001282678.2	NP_001269607.1:p.(Trp299Cys)	NC_000007.13:g.92140324C>G	(Likely) benign	2 labs	63dd744797
3:123366125 MYLK A>G	3	123366125	123366125	A	G	MYLK	c.4565T>C	NM_053025.4	NP_444253.3:p.(Val1522Ala)	NC_000003.11:g.123366125A>G	VUS	4 labs	63f001f124
16:21272591 CRYM G>C	16	21272591	21272591	G	C	CRYM	c.864C>G	NM_001888.5	NP_001879.1:p.(Thr288=)	NC_000016.9:g.21272591G>C	(Likely) benign	2 labs	63fd4fdac4
4:88537513 DSPP A>C	4	88537513	88537513	A	C	DSPP	c.3699A>C	NM_014208.3	NP_055023.2:p.(Glu1233Asp)	NC_000004.11:g.88537513A>C	(Likely) benign	3 labs	63ff1d1a22
12:33049501 PKP2 C>A	12	33049501	33049501	C	A	PKP2	c.165G>T	NM_004572.4	NP_004563.2:p.(Arg55=)	NC_000012.11:g.33049501C>A	(Likely) benign	2 labs	6409ddb72d
X:152770714 BGN A>G	X	152770714	152770714	A	G	BGN	c.257A>G	NM_001711.6	NP_001702.1:p.(Lys86Arg)	NC_000023.10:g.152770714A>G	(Likely) benign	2 labs	64188a9be1
14:23862218 MYH6 G>A	14	23862218	23862218	G	A	MYH6	c.3154C>T	NM_002471.4	NP_002462.2:p.(Arg1052Ter)	NC_000014.8:g.23862218G>A	VUS	2 labs	6426e586fd
17:48272469 COL1A1 G>A	17	48272469	48272469	G	A	COL1A1	c.1300-8C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272469G>A	(Likely) benign	2 labs	642f0525c6
14:23898504 MYH7 C>T	14	23898504	23898504	C	T	MYH7	c.1191G>A	NM_000257.4	NP_000248.2:p.(Lys397=)	NC_000014.8:g.23898504C>T	(Likely) benign	3 labs	643187b01a
5:150948328 FAT2 G>A	5	150948328	150948328	G	A	FAT2	c.165C>T	NM_001447.3	NP_001438.1:p.(Phe55=)	NC_000005.9:g.150948328G>A	(Likely) benign	2 labs	643c4a257d
2:238461014 MLPH G>A	2	238461014	238461014	G	A	MLPH	c.1710G>A	NM_024101.7	NP_077006.1:p.(Val570=)	NC_000002.11:g.238461014G>A	(Likely) benign	2 labs	643ed4d35d
12:32996207 PKP2 G>A	12	32996207	32996207	G	A	PKP2	c.1419C>T	NM_004572.4	NP_004563.2:p.(Gly473=)	NC_000012.11:g.32996207G>A	(Likely) benign	2 labs	64471cad0c
12:88512304 CEP290 AT>A	12	88512304	88512314	AT	A	CEP290	c.1666del	NM_025114.4	NP_079390.3:p.(Ile556PhefsTer17)	NC_000012.11:g.88512314del	(Likely) pathogenic	2 labs	644a1e45af
11:10064541 SBF2 G>GA	11	10064541	10064550	G	GA	SBF2	c.142-14dup	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.10064550dup	(Likely) benign	2 labs	644f78fa3b
1:161139738 PPOX G>A	1	161139738	161139738	G	A	PPOX	c.911G>A	NM_001122764.3	NP_001116236.1:p.(Arg304His)	NC_000001.10:g.161139738G>A	(Likely) benign	2 labs	6455d1605f
1:237659899 RYR2 C>A	1	237659899	237659899	C	A	RYR2	c.2050C>A	NM_001035.3	NP_001026.2:p.(Pro684Thr)	NC_000001.10:g.237659899C>A	VUS	2 labs	64583c48e4
3:30715720 TGFBR2 C>T	3	30715720	30715720	C	T	TGFBR2	c.1453C>T	NM_001024847.2	NP_001020018.1:p.(Arg485Cys)	NC_000003.11:g.30715720C>T	(Likely) pathogenic	2 labs	645ea27475
8:68074034 CSPP1 T>A	8	68074034	68074034	T	A	CSPP1	c.1489-12T>A	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68074034T>A	(Likely) benign	2 labs	64705811e2
12:53823970 AMHR2 ACTGGGCAATACCCCTACCTCTGATGAG>A	12	53823970	53823999	ACTGGGCAATACCCCTACCTCTGATGAG	A	AMHR2	c.1332_1358del	NM_020547.3	NP_065434.1:p.(Gly445_Leu453del)	NC_000012.11:g.53823973_53823999del	(Likely) pathogenic	2 labs	647749dea3
17:59760726 BRIP1 A>G	17	59760726	59760726	A	G	BRIP1	c.3681T>C	NM_032043.3	NP_114432.2:p.(His1227=)	NC_000017.10:g.59760726A>G	(Likely) benign	4 labs	64846939cc
10:102584647 PAX2 C>A	10	102584647	102584647	C	A	PAX2	c.1022-12C>A	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102584647C>A	(Likely) benign	2 labs	648731af55
3:129150385 MBD4 C>G	3	129150385	129150385	C	G	MBD4	c.1702G>C	NM_003925.3	NP_003916.1:p.(Asp568His)	NC_000003.11:g.129150385C>G	(Likely) benign	2 labs	648d647b99
X:38182131 RPGR G>A	X	38182131	38182131	G	A	RPGR	c.222C>T	NM_001034853.2	NP_001030025.1:p.(Ala74=)	NC_000023.10:g.38182131G>A	(Likely) benign	2 labs	649a703a2d
1:66031214 LEPR A>T	1	66031214	66031214	A	T	LEPR	c.-20-15A>T	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66031214A>T	(Likely) benign	2 labs	649d921c40
14:102495938 DYNC1H1 G>A	14	102495938	102495938	G	A	DYNC1H1	c.9531G>A	NM_001376.5	NP_001367.2:p.(Leu3177=)	NC_000014.8:g.102495938G>A	(Likely) benign	3 labs	64a0e7ddc2
3:123383111 MYLK G>A	3	123383111	123383111	G	A	MYLK	c.3832-6C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123383111G>A	(Likely) benign	4 labs	64a87ff611
17:41246565 BRCA1 CAT>C	17	41246565	41246567	CAT	C	BRCA1	c.981_982del	NM_007294.4	NP_009225.1:p.(Cys328Ter)	NC_000017.10:g.41246566_41246567del	(Likely) pathogenic	3 labs	64abd4e5f5
2:39240595 SOS1 A>C	2	39240595	39240595	A	C	SOS1	c.2167+6T>G	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39240595A>C	(Likely) benign	2 labs	64adb84658
X:153585827 FLNA C>T	X	153585827	153585827	C	T	FLNA	c.4920G>A	NM_001110556.2	NP_001104026.1:p.(Gly1640=)	NC_000023.10:g.153585827C>T	(Likely) benign	3 labs	64b157aeb0
19:38933039 RYR1 G>T	19	38933039	38933039	G	T	RYR1	c.216G>T	NM_000540.3	NP_000531.2:p.(Leu72=)	NC_000019.9:g.38933039G>T	(Likely) benign	2 labs	64b615ba65
2:189925516 COL5A2 C>T	2	189925516	189925516	C	T	COL5A2	c.2032-7G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189925516C>T	(Likely) benign	3 labs	64c55e8058
2:179613513 TTN T>G	2	179613513	179613513	T	G	TTN	c.13614A>C	NM_133379.5	NP_596870.2:p.(Gln4538His)	NC_000002.11:g.179613513T>G	(Likely) benign	3 labs	64cf4c1ea0
1:100681558 DBT G>A	1	100681558	100681558	G	A	DBT	c.753C>T	NM_001918.5	NP_001909.4:p.(Asp251=)	NC_000001.10:g.100681558G>A	(Likely) benign	2 labs	64e6f98b23
7:42065790 GLI3 C>T	7	42065790	42065790	C	T	GLI3	c.1242+8G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42065790C>T	(Likely) benign	2 labs	64ec99e026
19:36216448 KMT2B G>A	19	36216448	36216448	G	A	KMT2B	c.3711G>A	NM_014727.3	NP_055542.1:p.(Leu1237=)	NC_000019.9:g.36216448G>A	(Likely) benign	2 labs	64fd3ca8e1
3:123411622 MYLK G>A	3	123411622	123411622	G	A	MYLK	c.3525C>T	NM_053025.4	NP_444253.3:p.(Asp1175=)	NC_000003.11:g.123411622G>A	(Likely) benign	2 labs	64ff716ca1
4:114179262 ANK2 A>G	4	114179262	114179262	A	G	ANK2	c.1245A>G	NM_001148.6	NP_001139.3:p.(Glu415=)	NC_000004.11:g.114179262A>G	(Likely) benign	2 labs	6514a46fda
5:137507104 BRD8 TA>T	5	137507104	137507120	TA	T	BRD8	c.187-6del	NM_139199.2	NP_631938.2:p.?	NC_000005.9:g.137507120del	(Likely) benign	2 labs	6517c9e80b
3:38768334 SCN10A T>C	3	38768334	38768334	T	C	SCN10A	c.2850A>G	NM_006514.4	NP_006505.4:p.(Lys950=)	NC_000003.11:g.38768334T>C	(Likely) benign	2 labs	65254b9ba2
14:45606290 FANCM C>T	14	45606290	45606290	C	T	FANCM	c.527C>T	NM_020937.4	NP_065988.1:p.(Thr176Ile)	NC_000014.8:g.45606290C>T	(Likely) benign	3 labs	652809a030
2:179640616 TTN T>C	2	179640616	179640616	T	C	TTN	c.5975A>G	NM_133378.4	NP_596869.4:p.(Glu1992Gly)	NC_000002.11:g.179640616T>C	VUS	2 labs	6529abb4f0
2:179549626 TTN AAT>A	2	179549626	179549631	AAT	A	TTN	c.32554+5_32554+6del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179549630_179549631del	(Likely) benign	3 labs	6529e8c9dc
6:42932564 PEX6 C>A	6	42932564	42932564	C	A	PEX6	c.2770G>T	NM_000287.4	NP_000278.3:p.(Ala924Ser)	NC_000006.11:g.42932564C>A	(Likely) benign	2 labs	653207fa3e
3:123348434 MYLK G>A	3	123348434	123348434	G	A	MYLK	c.5001C>T	NM_053025.4	NP_444253.3:p.(Asn1667=)	NC_000003.11:g.123348434G>A	(Likely) benign	3 labs	6532c5299b
17:39925254 JUP G>A	17	39925254	39925254	G	A	JUP	c.674C>T	NM_001352773.2	NP_001339702.1:p.(Ser225Leu)	NC_000017.10:g.39925254G>A	VUS	2 labs	65570a7424
14:23857076 MYH6 T>C	14	23857076	23857076	T	C	MYH6	c.4416A>G	NM_002471.4	NP_002462.2:p.(Ser1472=)	NC_000014.8:g.23857076T>C	(Likely) benign	2 labs	655c304927
6:7569480 DSP A>T	6	7569480	7569480	A	T	DSP	c.1481A>T	NM_004415.4	NP_004406.2:p.(Tyr494Phe)	NC_000006.11:g.7569480A>T	(Likely) benign	4 labs	655fc3d342
X:70444194 GJB1 A>G	X	70444194	70444194	A	G	GJB1	c.637A>G	NM_000166.6	NP_000157.1:p.(Ile213Val)	NC_000023.10:g.70444194A>G	VUS	2 labs	656013c036
13:36026239 NBEA AG>A	13	36026239	36026240	AG	A	NBEA	c.6316del	NM_001385012.1	NP_001371941.1:p.(Asp2106MetfsTer2)	NC_000013.10:g.36026240del	(Likely) pathogenic	2 labs	6569204a36
10:112544602 RBM20 C>T	10	112544602	112544602	C	T	RBM20	c.1482C>T	NM_001134363.3	NP_001127835.2:p.(Phe494=)	NC_000010.10:g.112544602C>T	(Likely) benign	2 labs	656b2b3a6c
7:70236574 AUTS2 C>G	7	70236574	70236574	C	G	AUTS2	c.1774C>G	NM_001127231.3	NP_001120703.1:p.(Pro592Ala)	NC_000007.13:g.70236574C>G	(Likely) benign	2 labs	656eff0122
10:53822344 PRKG1 T>C	10	53822344	53822344	T	C	PRKG1	c.843T>C	NM_001098512.3	NP_001091982.1:p.(Leu281=)	NC_000010.10:g.53822344T>C	(Likely) benign	2 labs	65801f7a71
18:7011464 LAMA1 G>A	18	7011464	7011464	G	A	LAMA1	c.3522C>T	NM_005559.4	NP_005550.2:p.(Ser1174=)	NC_000018.9:g.7011464G>A	(Likely) benign	2 labs	658afeb58b
21:45194178 CSTB G>A	21	45194178	45194178	G	A	CSTB	c.202C>T	NM_000100.4	NP_000091.1:p.(Arg68Ter)	NC_000021.8:g.45194178G>A	(Likely) pathogenic	2 labs	658ecead2f
19:856015 ELANE G>A	19	856015	856015	G	A	ELANE	c.655G>A	NM_001972.4	NP_001963.1:p.(Val219Ile)	NC_000019.9:g.856015G>A	(Likely) benign	2 labs	6590463193
15:90172609 KIF7 G>T	15	90172609	90172609	G	T	KIF7	c.3514C>A	NM_198525.3	NP_940927.2:p.(Arg1172=)	NC_000015.9:g.90172609G>T	(Likely) benign	4 labs	6595b3ba26
5:112173553 APC T>G	5	112173553	112173553	T	G	APC	c.2262T>G	NM_000038.6	NP_000029.2:p.(Val754=)	NC_000005.9:g.112173553T>G	(Likely) benign	2 labs	6597364193
16:68847351 CDH1 G>A	16	68847351	68847351	G	A	CDH1	c.1273G>A	NM_004360.5	NP_004351.1:p.(Val425Ile)	NC_000016.9:g.68847351G>A	(Likely) benign	2 labs	659bdd61d9
11:47353660 MYBPC3 CT>C	11	47353660	47353661	CT	C	MYBPC3	c.3776del	NM_000256.3	NP_000247.2:p.(Gln1259ArgfsTer72)	NC_000011.9:g.47353661del	(Likely) pathogenic	6 labs	65bc76817d
1:94508323 ABCA4 G>A	1	94508323	94508323	G	A	ABCA4	c.3322C>T	NM_000350.3	NP_000341.2:p.(Arg1108Cys)	NC_000001.10:g.94508323G>A	(Likely) pathogenic	2 labs	65b6179c41
8:144991995 PLEC G>A	8	144991995	144991995	G	A	PLEC	c.12405C>T	NM_201380.4	NP_958782.1:p.(Pro4135=)	NC_000008.10:g.144991995G>A	(Likely) benign	4 labs	65b72e25ca
2:179659826 TTN C>T	2	179659826	179659826	C	T	TTN	c.1068G>A	NM_001267550.2	NP_001254479.2:p.(Glu356=)	NC_000002.11:g.179659826C>T	(Likely) benign	2 labs	65b7579809
X:48932930 WDR45 C>T	X	48932930	48932930	C	T	WDR45	c.841G>A	NM_007075.4	NP_009006.2:p.(Val281Met)	NC_000023.10:g.48932930C>T	(Likely) benign	3 labs	65bddb0547
17:68171388 KCNJ2 G>T	17	68171388	68171388	G	T	KCNJ2	c.208G>T	NM_000891.3	NP_000882.1:p.(Ala70Ser)	NC_000017.10:g.68171388G>T	VUS	2 labs	65bdfff30f
2:73800287 ALMS1 C>T	2	73800287	73800287	C	T	ALMS1	c.11286C>T	NM_015120.4	NP_055935.4:p.(Val3762=)	NC_000002.11:g.73800287C>T	(Likely) benign	2 labs	65c75bd316
6:32017233 TNXB C>T	6	32017233	32017233	C	T	TNXB	c.9565G>A	NM_019105.8	NP_061978.6:p.(Gly3189Ser)	NC_000006.11:g.32017233C>T	(Likely) benign	2 labs	65cb151eb1
13:36220482 NBEA C>T	13	36220482	36220482	C	T	NBEA	c.7704C>T	NM_015678.5	NP_056493.3:p.(His2568=)	NC_000013.10:g.36220482C>T	(Likely) benign	3 labs	65d0b51665
21:35821681 KCNE1 G>A	21	35821681	35821681	G	A	KCNE1	c.252C>T	NM_001127670.4	NP_001121142.1:p.(Ser84=)	NC_000021.8:g.35821681G>A	(Likely) benign	2 labs	65d21034d9
11:61723364 BEST1 G>A	11	61723364	61723364	G	A	BEST1	c.242G>A	NM_001139443.2	NP_001132915.1:p.(Arg81His)	NC_000011.9:g.61723364G>A	(Likely) pathogenic	4 labs	65d5538bab
7:92120808 PEX1 A>G	7	92120808	92120808	A	G	PEX1	c.2592T>C	NM_001282678.2	NP_001269607.1:p.(Ser864=)	NC_000007.13:g.92120808A>G	(Likely) benign	2 labs	65d70c1d68
11:116708092 APOA1 C>T	11	116708092	116708092	C	T	APOA1	c.12G>A	NM_001318017.2	NP_001304946.1:p.(Ala4=)	NC_000011.9:g.116708092C>T	(Likely) benign	2 labs	65d8e8115a
1:240255940 FMN2 G>A	1	240255940	240255940	G	A	FMN2	c.531G>A	NM_001305424.2	NP_001292353.1:p.(Ser177=)	NC_000001.10:g.240255940G>A	(Likely) benign	2 labs	65dc8fa8a6
1:5935092 NPHP4 C>T	1	5935092	5935092	C	T	NPHP4	c.2886G>A	NM_015102.5	NP_055917.1:p.(Thr962=)	NC_000001.10:g.5935092C>T	(Likely) benign	2 labs	65e1f95256
15:85401680 ALPK3 C>T	15	85401680	85401680	C	T	ALPK3	c.3711C>T	NM_020778.5	NP_065829.4:p.(Asp1237=)	NC_000015.9:g.85401680C>T	(Likely) benign	2 labs	65e3a4e935
18:21116665 NPC1 C>T	18	21116665	21116665	C	T	NPC1	c.3217G>A	NM_000271.5	NP_000262.2:p.(Gly1073Ser)	NC_000018.9:g.21116665C>T	(Likely) benign	2 labs	65ecc69bed
14:64497929 SYNE2 A>G	14	64497929	64497929	A	G	SYNE2	c.7075A>G	NM_182914.3	NP_878918.2:p.(Ser2359Gly)	NC_000014.8:g.64497929A>G	(Likely) benign	2 labs	65f27558bb
17:44051849 MAPT C>G	17	44051849	44051849	C	G	MAPT	c.307+12C>G	NM_005910.6	NP_005901.2:p.?	NC_000017.10:g.44051849C>G	(Likely) benign	2 labs	65f548a2d3
2:234217866 SAG G>A	2	234217866	234217866	G	A	SAG	c.31G>A	NM_000541.5	NP_000532.2:p.(Glu11Lys)	NC_000002.11:g.234217866G>A	VUS	2 labs	660042660a
16:88872229 CDT1 A>G	16	88872229	88872229	A	G	CDT1	c.784A>G	NM_030928.4	NP_112190.2:p.(Thr262Ala)	NC_000016.9:g.88872229A>G	(Likely) benign	2 labs	660f6c56ee
13:103527869 ERCC5 C>T	13	103527869	103527869	C	T	ERCC5	c.3177C>T	NM_000123.4	NP_000114.3:p.(Gly1059=)	NC_000013.10:g.103527869C>T	(Likely) benign	2 labs	662e990955
3:37048579 MLH1 A>G	3	37048579	37048579	A	G	MLH1	c.453+25A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37048579A>G	(Likely) benign	4 labs	66376ccccc
2:179427587 TTN A>G	2	179427587	179427587	A	G	TTN	c.83272T>C	NM_001267550.2	NP_001254479.2:p.(Phe27758Leu)	NC_000002.11:g.179427587A>G	(Likely) benign	2 labs	66378ba7b7
10:74322676 MICU1 G>A	10	74322676	74322676	G	A	MICU1	c.307C>T	NM_006077.4	NP_006068.2:p.(Arg103Cys)	NC_000010.10:g.74322676G>A	(Likely) benign	2 labs	663ce4403b
16:23647146 PALB2 T>C	16	23647146	23647146	T	C	PALB2	c.721A>G	NM_024675.4	NP_078951.2:p.(Asn241Asp)	NC_000016.9:g.23647146T>C	(Likely) benign	4 labs	6643d25cf4
5:60628540 ZSWIM6 GGGCGGC>G	5	60628540	60628561	GGGCGGC	G	ZSWIM6	c.457_462del	NM_020928.2	NP_065979.1:p.(Gly153_Gly154del)	NC_000005.9:g.60628556_60628561del	VUS	2 labs	664c48391e
16:87638018 JPH3 C>T	16	87638018	87638018	C	T	JPH3	c.555C>T	NM_001271604.4	NP_001258533.1:p.(Cys185=)	NC_000016.9:g.87638018C>T	(Likely) benign	2 labs	664fcff27d
2:215657182 BARD1 TA>T	2	215657182	215657198	TA	T	BARD1	c.216-14del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657198del	(Likely) benign	2 labs	665635991b
3:53766930 CACNA1D G>A	3	53766930	53766930	G	A	CACNA1D	c.2622G>A	NM_000720.4	NP_000711.1:p.(Lys874=)	NC_000003.11:g.53766930G>A	(Likely) benign	2 labs	6657ef10de
2:179528335 TTN T>C	2	179528335	179528335	T	C	TTN	c.36532+19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528335T>C	(Likely) benign	2 labs	6658e1a84b
3:184043282 EIF4G1 A>G	3	184043282	184043282	A	G	EIF4G1	c.2979A>G	NM_182917.4	NP_886553.3:p.(Pro993=)	NC_000003.11:g.184043282A>G	(Likely) benign	2 labs	665b87e9bd
8:145737373 RECQL4 C>T	8	145737373	145737373	C	T	RECQL4	c.3314G>A	NM_004260.4	NP_004251.4:p.(Gly1105Asp)	NC_000008.10:g.145737373C>T	(Likely) benign	4 labs	665ed58c72
X:153588446 FLNA G>A	X	153588446	153588446	G	A	FLNA	c.3717C>T	NM_001110556.2	NP_001104026.1:p.(Pro1239=)	NC_000023.10:g.153588446G>A	(Likely) benign	2 labs	66703b7297
2:179400585 TTN G>GA	2	179400585	179400600	G	GA	TTN	c.100766-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400600dup	(Likely) benign	3 labs	667407aebe
7:91718854 AKAP9 T>C	7	91718854	91718854	T	C	AKAP9	c.9358+11T>C	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91718854T>C	(Likely) benign	2 labs	667b60dd11
5:112151189 APC T>C	5	112151189	112151189	T	C	APC	c.835-3T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112151189T>C	(Likely) benign	2 labs	6683e8d370
7:1511201 INTS1 G>A	7	1511201	1511201	G	A	INTS1	c.6255+6C>T	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1511201G>A	(Likely) benign	2 labs	6688441f15
19:15289925 NOTCH3 C>T	19	15289925	15289925	C	T	NOTCH3	c.3629G>A	NM_000435.3	NP_000426.2:p.(Arg1210His)	NC_000019.9:g.15289925C>T	(Likely) benign	2 labs	66891bd796
11:68201296 LRP5 G>A	11	68201296	68201296	G	A	LRP5	c.2247G>A	NM_001291902.2	NP_001278831.1:p.(Ala749=)	NC_000011.9:g.68201296G>A	(Likely) benign	2 labs	668945383c
17:40695470 NAGLU G>A	17	40695470	40695470	G	A	NAGLU	c.1446G>A	NM_000263.4	NP_000254.2:p.(Arg482=)	NC_000017.10:g.40695470G>A	(Likely) benign	2 labs	668d546af6
2:179465561 TTN G>A	2	179465561	179465561	G	A	TTN	c.56050+20C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179465561G>A	(Likely) benign	2 labs	669648b8d8
10:105796340 COL17A1 GA>G	10	105796340	105796341	GA	G	COL17A1	c.3327del	NM_000494.4	NP_000485.3:p.(Pro1110ArgfsTer21)	NC_000010.10:g.105796341del	(Likely) pathogenic	3 labs	669803dba7
13:32937450 BRCA2 C>T	13	32937450	32937450	C	T	BRCA2	c.8111C>T	NM_000059.4	NP_000050.3:p.(Ser2704Phe)	NC_000013.10:g.32937450C>T	(Likely) benign	4 labs	669888d406
3:52485419 TNNC1 T>C	3	52485419	52485419	T	C	TNNC1	c.442A>G	NM_003280.3	NP_003271.1:p.(Ile148Val)	NC_000003.11:g.52485419T>C	VUS	2 labs	669d84ac09
7:112112880 IFRD1 A>G	7	112112880	112112880	A	G	IFRD1	c.1230A>G	NM_001007245.3	NP_001007246.1:p.(Ala410=)	NC_000007.13:g.112112880A>G	(Likely) benign	2 labs	66a9cbdff2
16:88782049 PIEZO1 C>T	16	88782049	88782049	C	T	PIEZO1	c.7530G>A	NM_001142864.4	NP_001136336.2:p.(Pro2510=)	NC_000016.9:g.88782049C>T	(Likely) benign	2 labs	66adba25be
1:12066705 MFN2 C>T	1	12066705	12066705	C	T	MFN2	c.1827C>T	NM_014874.4	NP_055689.1:p.(Ser609=)	NC_000001.10:g.12066705C>T	(Likely) benign	2 labs	66bf1272e5
12:13715861 GRIN2B G>A	12	13715861	13715861	G	A	GRIN2B	c.4311C>T	NM_000834.5	NP_000825.2:p.(Ala1437=)	NC_000012.11:g.13715861G>A	(Likely) benign	2 labs	66d18c8947
1:216219828 USH2A T>C	1	216219828	216219828	T	C	USH2A	c.6270A>G	NM_206933.4	NP_996816.3:p.(Leu2090=)	NC_000001.10:g.216219828T>C	(Likely) benign	3 labs	66df17919b
X:50350728 SHROOM4 T>TCC	X	50350728	50350729	T	TCC	SHROOM4	c.3413_3414insGG	NM_020717.4	NP_065768.2:p.(Glu1140LysfsTer42)	NC_000023.10:g.50350728_50350729insCC	(Likely) benign	3 labs	66e41c23d7
5:149500514 PDGFRB C>T	5	149500514	149500514	C	T	PDGFRB	c.2523G>A	NM_002609.4	NP_002600.1:p.(Lys841=)	NC_000005.9:g.149500514C>T	(Likely) benign	3 labs	66e5fd1f08
12:132547093 EP400 A>ACAG	12	132547093	132547137	A	ACAG	EP400	c.8223_8225dup	NM_015409.5	NP_056224.3:p.(Gln2748dup)	NC_000012.11:g.132547135_132547137dup	(Likely) benign	2 labs	66f1f7e5cf
3:46904800 MYL3 A>G	3	46904800	46904800	A	G	MYL3	c.81T>C	NM_000258.3	NP_000249.1:p.(Pro27=)	NC_000003.11:g.46904800A>G	(Likely) benign	4 labs	66f5394481
12:133226407 POLE G>A	12	133226407	133226407	G	A	POLE	c.3651C>T	NM_006231.4	NP_006222.2:p.(Leu1217=)	NC_000012.11:g.133226407G>A	(Likely) benign	2 labs	67094495dc
19:42489247 ATP1A3 C>T	19	42489247	42489247	C	T	ATP1A3	c.855G>A	NM_001256214.2	NP_001243143.1:p.(Thr285=)	NC_000019.9:g.42489247C>T	(Likely) benign	3 labs	671146ecb7
11:47361256 MYBPC3 G>A	11	47361256	47361256	G	A	MYBPC3	c.2013C>T	NM_000256.3	NP_000247.2:p.(Val671=)	NC_000011.9:g.47361256G>A	(Likely) benign	2 labs	67134f0227
15:48720553 FBN1 G>C	15	48720553	48720553	G	C	FBN1	c.6987C>G	NM_000138.5	NP_000129.3:p.(Asp2329Glu)	NC_000015.9:g.48720553G>C	(Likely) benign	4 labs	67139e79f4
14:23887457 MYH7 C>T	14	23887457	23887457	C	T	MYH7	c.4131G>A	NM_000257.4	NP_000248.2:p.(Thr1377=)	NC_000014.8:g.23887457C>T	(Likely) benign	2 labs	6714a8d836
3:100432597 TFG G>A	3	100432597	100432597	G	A	TFG	c.68G>A	NM_006070.6	NP_006061.2:p.(Arg23Gln)	NC_000003.11:g.100432597G>A	VUS	2 labs	6716daa7fc
10:85964280 CDHR1 G>A	10	85964280	85964280	G	A	CDHR1	c.784-3G>A	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85964280G>A	(Likely) benign	2 labs	672d10d355
19:50795617 MYH14 C>T	19	50795617	50795617	C	T	MYH14	c.5227C>T	NM_001145809.2	NP_001139281.1:p.(Leu1743=)	NC_000019.9:g.50795617C>T	(Likely) benign	2 labs	673a9d9150
1:197396917 CRB1 C>T	1	197396917	197396917	C	T	CRB1	c.2255C>T	NM_001257965.2	NP_001244894.1:p.(Thr752Met)	NC_000001.10:g.197396917C>T	VUS	2 labs	673fd27247
2:179596487 TTN G>A	2	179596487	179596487	G	A	TTN	c.17115C>T	NM_001267550.2	NP_001254479.2:p.(Gly5705=)	NC_000002.11:g.179596487G>A	(Likely) benign	2 labs	67562381de
13:32969002 BRCA2 G>C	13	32969002	32969002	G	C	BRCA2	c.9433G>C	NM_000059.4	NP_000050.3:p.(Val3145Leu)	NC_000013.10:g.32969002G>C	(Likely) benign	2 labs	676aaf8303
9:2104159 SMARCA2 A>G	9	2104159	2104159	A	G	SMARCA2	c.3282A>G	NM_003070.5	NP_003061.3:p.(Leu1094=)	NC_000009.11:g.2104159A>G	(Likely) benign	2 labs	67700b7f23
11:68177405 LRP5 C>T	11	68177405	68177405	C	T	LRP5	c.372C>T	NM_001291902.2	NP_001278831.1:p.(Asn124=)	NC_000011.9:g.68177405C>T	(Likely) benign	2 labs	67771653d8
7:128493623 FLNC C>T	7	128493623	128493623	C	T	FLNC	c.6309C>T	NM_001458.5	NP_001449.3:p.(Thr2103=)	NC_000007.13:g.128493623C>T	(Likely) benign	5 labs	6778219881
X:129265776 AIFM1 TAAG>T	X	129265776	129265783	TAAG	T	AIFM1	c.1449-5_1449-3del	NM_004208.4	NP_004199.1:p.?	NC_000023.10:g.129265781_129265783del	(Likely) benign	2 labs	6781a1d6bb
12:22070051 ABCC9 G>T	12	22070051	22070051	G	T	ABCC9	c.407-14C>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22070051G>T	(Likely) benign	5 labs	678db8ca74
1:3342197 PRDM16 G>A	1	3342197	3342197	G	A	PRDM16	c.2992G>A	NM_022114.4	NP_071397.3:p.(Val998Ile)	NC_000001.10:g.3342197G>A	VUS	2 labs	67941af661
13:32930551 BRCA2 T>G	13	32930551	32930551	T	G	BRCA2	c.7436-14T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930551T>G	(Likely) benign	3 labs	679d0a4d0f
8:42294776 SLC20A2 G>A	8	42294776	42294776	G	A	SLC20A2	c.1254C>T	NM_001257180.2	NP_001244109.1:p.(Gly418=)	NC_000008.10:g.42294776G>A	(Likely) benign	2 labs	67a1fd2512
4:100530148 MTTP C>T	4	100530148	100530148	C	T	MTTP	c.1769+14C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530148C>T	(Likely) benign	2 labs	67a5e92a6c
15:45392382 DUOX2 T>C	15	45392382	45392382	T	C	DUOX2	c.3050A>G	NM_014080.5	NP_054799.4:p.(Glu1017Gly)	NC_000015.9:g.45392382T>C	(Likely) benign	2 labs	67b5a43e8d
3:48508774 TREX1 G>A	3	48508774	48508774	G	A	TREX1	c.690G>A	NM_007248.5	NP_009179.2:p.(Arg230=)	NC_000003.11:g.48508774G>A	(Likely) benign	3 labs	67bd5c6eba
9:137619210 COL5A1 C>T	9	137619210	137619210	C	T	COL5A1	c.753C>T	NM_000093.5	NP_000084.3:p.(Thr251=)	NC_000009.11:g.137619210C>T	(Likely) benign	2 labs	67c34715de
20:32026826 SNTA1 C>T	20	32026826	32026826	C	T	SNTA1	c.317G>A	NM_003098.3	NP_003089.1:p.(Arg106Gln)	NC_000020.10:g.32026826C>T	(Likely) benign	2 labs	67c91040fb
12:862641 WNK1 T>G	12	862641	862641	T	G	WNK1	c.-91T>G	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.862641T>G	(Likely) benign	2 labs	67cb03af8c
2:220283773 DES G>A	2	220283773	220283773	G	A	DES	c.578+11G>A	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220283773G>A	(Likely) benign	4 labs	67d25278a5
2:179426716 TTN A>AT	2	179426716	179426717	A	AT	TTN	c.84142dup	NM_001267550.2	NP_001254479.2:p.(Ile28048AsnfsTer7)	NC_000002.11:g.179426717dup	(Likely) pathogenic	2 labs	67d2a97192
14:54418596 BMP4 G>A	14	54418596	54418596	G	A	BMP4	c.345C>T	NM_001202.6	NP_001193.2:p.(Asn115=)	NC_000014.8:g.54418596G>A	(Likely) benign	2 labs	67f26c913a
8:1876821 ARHGEF10 G>C	8	1876821	1876821	G	C	ARHGEF10	c.2993+5G>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1876821G>C	(Likely) benign	3 labs	6801c08ecd
1:12012722 PLOD1 A>T	1	12012722	12012722	A	T	PLOD1	c.509A>T	NM_000302.4	NP_000293.2:p.(Glu170Val)	NC_000001.10:g.12012722A>T	(Likely) benign	2 labs	68287746c7
5:149460355 CSF1R G>A	5	149460355	149460355	G	A	CSF1R	c.282C>T	NM_001375320.1	NP_001362249.1:p.(Ser94=)	NC_000005.9:g.149460355G>A	(Likely) benign	3 labs	682b170971
18:6949253 LAMA1 C>T	18	6949253	6949253	C	T	LAMA1	c.8403G>A	NM_005559.4	NP_005550.2:p.(Lys2801=)	NC_000018.9:g.6949253C>T	(Likely) benign	2 labs	682ebf878e
3:148901368 CP C>T	3	148901368	148901368	C	T	CP	c.2310G>A	NM_000096.4	NP_000087.2:p.(Lys770=)	NC_000003.11:g.148901368C>T	(Likely) benign	2 labs	683ed44d53
7:138591675 KIAA1549 C>G	7	138591675	138591675	C	G	KIAA1549	c.3450G>C	NM_001164665.2	NP_001158137.1:p.(Gln1150His)	NC_000007.13:g.138591675C>G	VUS	2 labs	6843d3f2f4
17:7577538 TP53 C>T	17	7577538	7577538	C	T	TP53	c.743G>A	NM_000546.6	NP_000537.3:p.(Arg248Gln)	NC_000017.10:g.7577538C>T	(Likely) pathogenic	3 labs	685022e65b
5:73076511 ARHGEF28 C>A	5	73076511	73076511	C	A	ARHGEF28	c.851C>A	NM_001080479.3	NP_001073948.2:p.(Pro284Gln)	NC_000005.9:g.73076511C>A	(Likely) benign	2 labs	6871b15c04
2:179582327 TTN C>T	2	179582327	179582327	C	T	TTN	c.25274G>A	NM_001267550.2	NP_001254479.2:p.(Ser8425Asn)	NC_000002.11:g.179582327C>T	(Likely) benign	2 labs	687631a6c2
12:110618313 IFT81 C>T	12	110618313	110618313	C	T	IFT81	c.1275C>T	NM_014055.4	NP_054774.2:p.(Phe425=)	NC_000012.11:g.110618313C>T	(Likely) benign	2 labs	6879997dac
8:22054188 BMP1 C>T	8	22054188	22054188	C	T	BMP1	c.1766-5C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22054188C>T	(Likely) benign	2 labs	687b87c820
21:35821559 KCNE1 G>A	21	35821559	35821559	G	A	KCNE1	c.374C>T	NM_001127670.4	NP_001121142.1:p.(Thr125Met)	NC_000021.8:g.35821559G>A	(Likely) benign	3 labs	688abce15c
12:2800290 CACNA1C G>A	12	2800290	2800290	G	A	CACNA1C	c.6591G>A	NM_199460.4	NP_955630.3:p.(Ala2197=)	NC_000012.11:g.2800290G>A	(Likely) benign	2 labs	689418a9e3
2:202626437 ALS2 T>C	2	202626437	202626437	T	C	ALS2	c.280A>G	NM_020919.4	NP_065970.2:p.(Ile94Val)	NC_000002.11:g.202626437T>C	(Likely) benign	3 labs	68943a90f4
9:35712931 TLN1 C>T	9	35712931	35712931	C	T	TLN1	c.3462G>A	NM_006289.4	NP_006280.3:p.(Thr1154=)	NC_000009.11:g.35712931C>T	(Likely) benign	2 labs	68ae897a60
2:189975012 COL5A2 C>T	2	189975012	189975012	C	T	COL5A2	c.261G>A	NM_000393.5	NP_000384.2:p.(Thr87=)	NC_000002.11:g.189975012C>T	(Likely) benign	3 labs	68b562edc7
13:23929842 SACS T>C	13	23929842	23929842	T	C	SACS	c.909A>G	NM_014363.6	NP_055178.3:p.(Ala303=)	NC_000013.10:g.23929842T>C	(Likely) benign	3 labs	68c0b79605
21:46910740 COL18A1 G>A	21	46910740	46910740	G	A	COL18A1	c.2032-10G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46910740G>A	(Likely) benign	2 labs	68c48fd214
1:237060295 MTR G>A	1	237060295	237060295	G	A	MTR	c.3599-11G>A	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060295G>A	(Likely) benign	2 labs	68caff6f4f
2:179665161 TTN C>T	2	179665161	179665161	C	T	TTN	c.544G>A	NM_001267550.2	NP_001254479.2:p.(Val182Ile)	NC_000002.11:g.179665161C>T	VUS	3 labs	68cc5d5d7c
5:179248075 SQSTM1 C>G	5	179248075	179248075	C	G	SQSTM1	c.139C>G	NM_003900.5	NP_003891.1:p.(Leu47Val)	NC_000005.9:g.179248075C>G	VUS	2 labs	68d1c767d0
4:128811117 PLK4 G>C	4	128811117	128811117	G	C	PLK4	c.1556G>C	NM_014264.5	NP_055079.3:p.(Trp519Ser)	NC_000004.11:g.128811117G>C	(Likely) benign	2 labs	68d2493daa
2:167094730 SCN9A G>T	2	167094730	167094730	G	T	SCN9A	c.3642C>A	NM_002977.3	NP_002968.1:p.(Ile1214=)	NC_000002.11:g.167094730G>T	(Likely) benign	2 labs	68dedc8e55
7:128478671 FLNC G>A	7	128478671	128478671	G	A	FLNC	c.1225G>A	NM_001458.5	NP_001449.3:p.(Asp409Asn)	NC_000007.13:g.128478671G>A	VUS	3 labs	68f1104617
14:23898516 MYH7 G>A	14	23898516	23898516	G	A	MYH7	c.1179C>T	NM_000257.4	NP_000248.2:p.(Ala393=)	NC_000014.8:g.23898516G>A	(Likely) benign	2 labs	68f3c4da36
21:47545690 COL6A2 G>A	21	47545690	47545690	G	A	COL6A2	c.1970-9G>A	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47545690G>A	(Likely) pathogenic	4 labs	6904bae5b6
1:55505732 PCSK9 A>G	1	55505732	55505732	A	G	PCSK9	c.207+15A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505732A>G	(Likely) benign	2 labs	69134ecea7
14:77786863 POMT2 C>A	14	77786863	77786863	C	A	POMT2	c.162G>T	NM_013382.7	NP_037514.2:p.(Ala54=)	NC_000014.8:g.77786863C>A	(Likely) benign	3 labs	691df66ea2
7:81641500 CACNA2D1 G>A	7	81641500	81641500	G	A	CACNA2D1	c.1332C>T	NM_000722.4	NP_000713.2:p.(Val444=)	NC_000007.13:g.81641500G>A	(Likely) benign	2 labs	693142a0a0
8:43046725 HGSNAT C>T	8	43046725	43046725	C	T	HGSNAT	c.1237C>T	NM_152419.3	NP_689632.2:p.(Pro413Ser)	NC_000008.10:g.43046725C>T	VUS	2 labs	693e8dea60
4:114276628 ANK2 T>C	4	114276628	114276628	T	C	ANK2	c.6995T>C	NM_001386174.1	NP_001373103.1:p.(Ile2332Thr)	NC_000004.11:g.114276628T>C	(Likely) benign	2 labs	693f719ffd
12:133241947 POLE C>T	12	133241947	133241947	C	T	POLE	c.2409G>A	NM_006231.4	NP_006222.2:p.(Ser803=)	NC_000012.11:g.133241947C>T	(Likely) benign	2 labs	69505941b3
17:41197783 BRCA1 CG>C	17	41197783	41197786	CG	C	BRCA1	c.5503del	NM_007294.4	NP_009225.1:p.(Arg1835GlufsTer8)	NC_000017.10:g.41197786del	(Likely) pathogenic	3 labs	69633c8a0a
X:153588342 FLNA C>T	X	153588342	153588342	C	T	FLNA	c.3805+16G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153588342C>T	(Likely) benign	3 labs	6966b292bd
X:153577951 FLNA T>C	X	153577951	153577951	T	C	FLNA	c.7553-18A>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153577951T>C	(Likely) benign	2 labs	696dffaf97
10:78850172 KCNMA1 G>A	10	78850172	78850172	G	A	KCNMA1	c.1320C>T	NM_001322830.2	NP_001309759.1:p.(Ile440=)	NC_000010.10:g.78850172G>A	(Likely) benign	3 labs	696fc409fc
1:156108976 LMNA G>C	1	156108976	156108976	G	C	LMNA	c.*79G>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156108976G>C	(Likely) benign	2 labs	6972ca836f
12:32993953 PKP2 T>C	12	32993953	32993953	T	C	PKP2	c.1688+9A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32993953T>C	(Likely) benign	2 labs	697677d943
20:10653603 JAG1 C>A	20	10653603	10653603	C	A	JAG1	c.133G>T	NM_000214.3	NP_000205.1:p.(Val45Leu)	NC_000020.10:g.10653603C>A	(Likely) benign	3 labs	697b7df802
17:41245026 BRCA1 C>T	17	41245026	41245026	C	T	BRCA1	c.2522G>A	NM_007294.4	NP_009225.1:p.(Arg841Gln)	NC_000017.10:g.41245026C>T	(Likely) benign	5 labs	697bade6e2
4:123664554 BBS12 G>T	4	123664554	123664554	G	T	BBS12	c.1507G>T	NM_001178007.2	NP_001171478.1:p.(Val503Leu)	NC_000004.11:g.123664554G>T	VUS	2 labs	697eb49a63
9:79930346 VPS13A T>G	9	79930346	79930346	T	G	VPS13A	c.4590T>G	NM_033305.3	NP_150648.2:p.(Ala1530=)	NC_000009.11:g.79930346T>G	(Likely) benign	2 labs	6987b1c3fd
12:25362777 KRAS A>G	12	25362777	25362777	A	G	KRAS	c.519T>C	NM_004985.5	NP_004976.2:p.(Asp173=)	NC_000012.11:g.25362777A>G	(Likely) benign	3 labs	699e207211
15:23892846 MAGEL2 G>A	15	23892846	23892846	G	A	MAGEL2	c.44C>T	NM_019066.5	NP_061939.3:p.(Ala15Val)	NC_000015.9:g.23892846G>A	(Likely) benign	2 labs	699a35da3e
13:50123688 RCBTB1 G>A	13	50123688	50123688	G	A	RCBTB1	c.951C>T	NM_018191.4	NP_060661.3:p.(Ser317=)	NC_000013.10:g.50123688G>A	(Likely) benign	2 labs	699c97d0cc
20:57415675 GNAS G>A	20	57415675	57415675	G	A	GNAS	c.514G>A	NM_016592.5	NP_057676.1:p.(Asp172Asn)	NC_000020.10:g.57415675G>A	(Likely) benign	2 labs	69a5b4f9b2
10:112541502 RBM20 G>A	10	112541502	112541502	G	A	RBM20	c.1135G>A	NM_001134363.3	NP_001127835.2:p.(Gly379Arg)	NC_000010.10:g.112541502G>A	(Likely) benign	3 labs	69a71bd559
1:78383379 NEXN C>T	1	78383379	78383379	C	T	NEXN	c.156C>T	NM_144573.4	NP_653174.3:p.(Asp52=)	NC_000001.10:g.78383379C>T	(Likely) benign	2 labs	69af41d907
1:215847544 USH2A C>T	1	215847544	215847544	C	T	USH2A	c.13709G>A	NM_206933.4	NP_996816.3:p.(Arg4570His)	NC_000001.10:g.215847544C>T	(Likely) benign	2 labs	69b31ad007
7:130044564 CEP41 T>G	7	130044564	130044564	T	G	CEP41	c.278-15A>C	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130044564T>G	(Likely) benign	2 labs	69b8b086dc
1:94577059 ABCA4 A>G	1	94577059	94577059	A	G	ABCA4	c.237T>C	NM_000350.3	NP_000341.2:p.(Asn79=)	NC_000001.10:g.94577059A>G	(Likely) benign	2 labs	69bac78779
21:34923617 SON A>G	21	34923617	34923617	A	G	SON	c.2080A>G	NM_138927.4	NP_620305.3:p.(Thr694Ala)	NC_000021.8:g.34923617A>G	(Likely) benign	2 labs	69c5884092
16:84050212 SLC38A8 C>T	16	84050212	84050212	C	T	SLC38A8	c.1074G>A	NM_001080442.3	NP_001073911.1:p.(Thr358=)	NC_000016.9:g.84050212C>T	(Likely) benign	2 labs	69ccdc5bac
1:240371373 FMN2 A>T	1	240371373	240371373	A	T	FMN2	c.3273A>T	NM_001305424.2	NP_001292353.1:p.(Pro1091=)	NC_000001.10:g.240371373A>T	(Likely) benign	2 labs	69cf1862e3
1:196646592 CFH T>C	1	196646592	196646592	T	C	CFH	c.428-14T>C	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196646592T>C	(Likely) benign	3 labs	69cfe55f6c
2:179518638 TTN A>G	2	179518638	179518638	A	G	TTN	c.31742-1370T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179518638A>G	(Likely) benign	3 labs	69d2e0ce79
16:15820735 MYH11 C>T	16	15820735	15820735	C	T	MYH11	c.3849G>A	NM_001040113.2	NP_001035202.1:p.(Ala1283=)	NC_000016.9:g.15820735C>T	(Likely) benign	4 labs	69d37acf93
15:35083508 ACTC1 TCACACACACACACACA>T	15	35083508	35083554	TCACACACACACACACA	T	ACTC1	c.809-28_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083539_35083554del	(Likely) benign	4 labs	69e9e69779
2:179485558 TTN A>G	2	179485558	179485558	A	G	TTN	c.45779T>C	NM_001267550.2	NP_001254479.2:p.(Leu15260Pro)	NC_000002.11:g.179485558A>G	(Likely) benign	3 labs	69e5278d5d
2:29001691 PPP1CB A>G	2	29001691	29001691	A	G	PPP1CB	c.201A>G	NM_206876.2	NP_996759.1:p.(Gln67=)	NC_000002.11:g.29001691A>G	(Likely) benign	2 labs	69ee6b12a7
1:3328445 PRDM16 G>A	1	3328445	3328445	G	A	PRDM16	c.1684G>A	NM_022114.4	NP_071397.3:p.(Val562Ile)	NC_000001.10:g.3328445G>A	(Likely) benign	2 labs	69eefcb49d
20:61981411 CHRNA4 G>A	20	61981411	61981411	G	A	CHRNA4	c.1352C>T	NM_000744.7	NP_000735.1:p.(Pro451Leu)	NC_000020.10:g.61981411G>A	(Likely) benign	3 labs	69fcae6289
5:95759019 PCSK1 A>G	5	95759019	95759019	A	G	PCSK1	c.541T>C	NM_000439.5	NP_000430.3:p.(Tyr181His)	NC_000005.9:g.95759019A>G	VUS	2 labs	6a00ddf6f9
5:127800505 FBN2 C>T	5	127800505	127800505	C	T	FBN2	c.738G>A	NM_001999.4	NP_001990.2:p.(Ala246=)	NC_000005.9:g.127800505C>T	(Likely) benign	4 labs	6a011581d8
7:103126724 RELN G>A	7	103126724	103126724	G	A	RELN	c.9903C>T	NM_005045.4	NP_005036.2:p.(Tyr3301=)	NC_000007.13:g.103126724G>A	(Likely) benign	2 labs	6a01708294
1:243434338 SDCCAG8 G>A	1	243434338	243434338	G	A	SDCCAG8	c.279G>A	NM_006642.5	NP_006633.1:p.(Pro93=)	NC_000001.10:g.243434338G>A	(Likely) benign	3 labs	6a08696b17
13:103515288 ERCC5 G>C	13	103515288	103515288	G	C	ERCC5	c.1789G>C	NM_000123.4	NP_000114.3:p.(Val597Leu)	NC_000013.10:g.103515288G>C	(Likely) benign	2 labs	6a0b54f169
1:228346034 GJC2 C>G	1	228346034	228346034	C	G	GJC2	c.575C>G	NM_020435.4	NP_065168.2:p.(Pro192Arg)	NC_000001.10:g.228346034C>G	(Likely) benign	4 labs	6a0ea73e85
6:75797391 COL12A1 C>T	6	75797391	75797391	C	T	COL12A1	c.9083G>A	NM_004370.6	NP_004361.3:p.(Arg3028His)	NC_000006.11:g.75797391C>T	(Likely) benign	3 labs	6a151d80be
2:179604951 TTN TTTC>T	2	179604951	179604957	TTTC	T	TTN	c.13006_13008del	NM_001267550.2	NP_001254479.2:p.(Glu4336del)	NC_000002.11:g.179604955_179604957del	VUS	4 labs	6a1ea370e1
2:179472661 TTN C>T	2	179472661	179472661	C	T	TTN	c.52853G>A	NM_001267550.2	NP_001254479.2:p.(Arg17618His)	NC_000002.11:g.179472661C>T	(Likely) benign	2 labs	6a20026b23
12:88513885 CEP290 G>A	12	88513885	88513885	G	A	CEP290	c.1522+6C>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88513885G>A	(Likely) benign	3 labs	6a253ec614
14:23867968 MYH6 A>C	14	23867968	23867968	A	C	MYH6	c.1860T>G	NM_002471.4	NP_002462.2:p.(Thr620=)	NC_000014.8:g.23867968A>C	(Likely) benign	2 labs	6a34d4f02b
14:102508438 DYNC1H1 C>T	14	102508438	102508438	C	T	DYNC1H1	c.12191C>T	NM_001376.5	NP_001367.2:p.(Thr4064Met)	NC_000014.8:g.102508438C>T	VUS	2 labs	6a3593d7d7
5:112043441 APC G>C	5	112043441	112043441	G	C	APC	c.-157G>C	NM_001354895.2	NP_001341824.1:p.?	NC_000005.9:g.112043441G>C	(Likely) benign	2 labs	6a3e22df60
21:44488631 CBS T>G	21	44488631	44488631	T	G	CBS	c.304A>C	NM_000071.3	NP_000062.1:p.(Lys102Gln)	NC_000021.8:g.44488631T>G	(Likely) benign	3 labs	6a48535262
6:152469188 SYNE1 C>G	6	152469188	152469188	C	G	SYNE1	c.24968G>C	NM_182961.4	NP_892006.3:p.(Gly8323Ala)	NC_000006.11:g.152469188C>G	(Likely) benign	4 labs	6a52e54ca0
2:179516828 TTN G>T	2	179516828	179516828	G	T	TTN	c.31988C>A	NM_133378.4	NP_596869.4:p.(Pro10663His)	NC_000002.11:g.179516828G>T	VUS	2 labs	6a4e666042
16:49670954 ZNF423 C>T	16	49670954	49670954	C	T	ZNF423	c.1929G>A	NM_001271620.2	NP_001258549.1:p.(Ser643=)	NC_000016.9:g.49670954C>T	(Likely) benign	2 labs	6a519a360b
15:23891852 MAGEL2 C>G	15	23891852	23891852	C	G	MAGEL2	c.1038G>C	NM_019066.5	NP_061939.3:p.(Arg346Ser)	NC_000015.9:g.23891852C>G	(Likely) benign	3 labs	6a5375e821
3:38645359 SCN5A G>T	3	38645359	38645359	G	T	SCN5A	c.1734C>A	NM_001099404.2	NP_001092874.1:p.(Pro578=)	NC_000003.11:g.38645359G>T	(Likely) benign	2 labs	6a572e736b
3:178922274 PIK3CA C>A	3	178922274	178922274	C	A	PIK3CA	c.1060-17C>A	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178922274C>A	(Likely) benign	3 labs	6a60bb2d68
X:14863136 FANCB A>G	X	14863136	14863136	A	G	FANCB	c.1769T>C	NM_001018113.3	NP_001018123.1:p.(Phe590Ser)	NC_000023.10:g.14863136A>G	(Likely) benign	2 labs	6a614260a7
17:33433413 RAD51D C>T	17	33433413	33433413	C	T	RAD51D	c.568G>A	NM_002878.4	NP_002869.3:p.(Ala190Thr)	NC_000017.10:g.33433413C>T	(Likely) benign	2 labs	6a61f48aee
1:21900151 ALPL T>C	1	21900151	21900151	T	C	ALPL	c.863-7T>C	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21900151T>C	(Likely) benign	2 labs	6a75fd7046
11:121323277 SORL1 G>A	11	121323277	121323277	G	A	SORL1	c.237G>A	NM_003105.6	NP_003096.2:p.(Arg79=)	NC_000011.9:g.121323277G>A	(Likely) benign	2 labs	6a7f611c2d
16:2130190 TSC2 C>T	16	2130190	2130190	C	T	TSC2	c.3422C>T	NM_000548.5	NP_000539.2:p.(Ala1141Val)	NC_000016.9:g.2130190C>T	(Likely) benign	2 labs	6a85c89215
5:95751785 PCSK1 T>C	5	95751785	95751785	T	C	PCSK1	c.661A>G	NM_000439.5	NP_000430.3:p.(Asn221Asp)	NC_000005.9:g.95751785T>C	(Likely) benign	2 labs	6a88f738c1
3:148901395 CP T>TA	3	148901395	148901406	T	TA	CP	c.2286-4dup	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901406dup	(Likely) benign	3 labs	6a959f502f
5:172659915 NKX2-5 G>A	5	172659915	172659915	G	A	NKX2-5	c.632C>T	NM_004387.4	NP_004378.1:p.(Pro211Leu)	NC_000005.9:g.172659915G>A	(Likely) benign	3 labs	6a8f16a158
X:49079494 CACNA1F G>C	X	49079494	49079494	G	C	CACNA1F	c.2012C>G	NM_005183.4	NP_005174.2:p.(Ser671Cys)	NC_000023.10:g.49079494G>C	(Likely) benign	2 labs	6a9001b46d
X:46713161 RP2 G>A	X	46713161	46713161	G	A	RP2	c.353G>A	NM_006915.3	NP_008846.2:p.(Arg118His)	NC_000023.10:g.46713161G>A	(Likely) pathogenic	2 labs	6a97c30d39
9:139412256 NOTCH1 G>A	9	139412256	139412256	G	A	NOTCH1	c.1389C>T	NM_017617.5	NP_060087.3:p.(Asn463=)	NC_000009.11:g.139412256G>A	(Likely) benign	2 labs	6a99240011
2:241658532 KIF1A C>T	2	241658532	241658532	C	T	KIF1A	c.5180G>A	NM_001379631.1	NP_001366560.1:p.(Arg1727His)	NC_000002.11:g.241658532C>T	VUS	2 labs	6aa8434f96
6:112528348 LAMA4 T>C	6	112528348	112528348	T	C	LAMA4	c.298-2A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112528348T>C	VUS	2 labs	6aaced7824
7:150642497 KCNH2 T>A	7	150642497	150642497	T	A	KCNH2	c.3436A>T	NM_000238.4	NP_000229.1:p.(Thr1146Ser)	NC_000007.13:g.150642497T>A	(Likely) benign	2 labs	6ab8e8e2eb
2:179580210 TTN G>A	2	179580210	179580210	G	A	TTN	c.25921+10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179580210G>A	(Likely) benign	2 labs	6ac6d5ef49
3:38805039 SCN10A T>G	3	38805039	38805039	T	G	SCN10A	c.648A>C	NM_006514.4	NP_006505.4:p.(Thr216=)	NC_000003.11:g.38805039T>G	(Likely) benign	3 labs	6aed582b69
15:34610786 SLC12A6 G>A	15	34610786	34610786	G	A	SLC12A6	c.94C>T	NM_005135.2	NP_005126.1:p.(Arg32Trp)	NC_000015.9:g.34610786G>A	(Likely) benign	2 labs	6aedf57f39
9:107556793 ABCA1 TAA>T	9	107556793	107556811	TAA	T	ABCA1	c.5383-4_5383-3del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556810_107556811del	(Likely) benign	2 labs	6af5f74f3c
17:44051846 MAPT A>G	17	44051846	44051846	A	G	MAPT	c.307+9A>G	NM_001123066.4	NP_001116538.2:p.?	NC_000017.10:g.44051846A>G	(Likely) benign	3 labs	6af8d3fc1e
X:153691996 PLXNA3 G>A	X	153691996	153691996	G	A	PLXNA3	c.1510G>A	NM_017514.5	NP_059984.3:p.(Gly504Arg)	NC_000023.10:g.153691996G>A	(Likely) benign	2 labs	6b0b20c879
18:21123536 NPC1 TAA>T	18	21123536	21123554	TAA	T	NPC1	c.2131-5_2131-4del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21123553_21123554del	(Likely) benign	3 labs	6b108c6497
21:38868535 DYRK1A TAAAG>T	21	38868535	38868541	TAAAG	T	DYRK1A	c.1217_1220del	NM_001396.5	NP_001387.2:p.(Lys406ArgfsTer44)	NC_000021.8:g.38868538_38868541del	(Likely) pathogenic	2 labs	6b13d0e92c
16:23637698 PALB2 G>A	16	23637698	23637698	G	A	PALB2	c.2607C>T	NM_024675.4	NP_078951.2:p.(Ser869=)	NC_000016.9:g.23637698G>A	(Likely) benign	5 labs	6b165b7916
3:101023112 IMPG2 G>A	3	101023112	101023112	G	A	IMPG2	c.379C>T	NM_016247.4	NP_057331.2:p.(Arg127Ter)	NC_000003.11:g.101023112G>A	(Likely) pathogenic	3 labs	6b173549df
1:40781317 COL9A2 C>T	1	40781317	40781317	C	T	COL9A2	c.95G>A	NM_001852.4	NP_001843.1:p.(Arg32Gln)	NC_000001.10:g.40781317C>T	(Likely) benign	3 labs	6b19c6b114
7:128494824 FLNC C>T	7	128494824	128494824	C	T	FLNC	c.6998-5C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128494824C>T	(Likely) benign	2 labs	6b1dc30a6a
3:38791574 SCN10A G>A	3	38791574	38791574	G	A	SCN10A	c.1857C>T	NM_006514.4	NP_006505.4:p.(Ser619=)	NC_000003.11:g.38791574G>A	(Likely) benign	2 labs	6b2228646f
2:179584900 TTN T>C	2	179584900	179584900	T	C	TTN	c.23469A>G	NM_001267550.2	NP_001254479.2:p.(Pro7823=)	NC_000002.11:g.179584900T>C	(Likely) benign	3 labs	6b224beee0
1:45973216 MMACHC T>TA	1	45973216	45973217	T	TA	MMACHC	c.271dup	NM_015506.3	NP_056321.2:p.(Arg91LysfsTer14)	NC_000001.10:g.45973217dup	(Likely) pathogenic	5 labs	6b227e1142
11:118007790 SCN4B G>A	11	118007790	118007790	G	A	SCN4B	c.639C>T	NM_174934.4	NP_777594.1:p.(Asn213=)	NC_000011.9:g.118007790G>A	(Likely) benign	3 labs	6b2684f910
20:42744463 JPH2 T>C	20	42744463	42744463	T	C	JPH2	c.1852A>G	NM_020433.5	NP_065166.2:p.(Thr618Ala)	NC_000020.10:g.42744463T>C	(Likely) benign	3 labs	6b275f9257
8:10466937 RP1L1 C>T	8	10466937	10466937	C	T	RP1L1	c.4671G>A	NM_178857.6	NP_849188.4:p.(Ala1557=)	NC_000008.10:g.10466937C>T	(Likely) benign	2 labs	6b29cd7371
22:19751829 TBX1 C>T	22	19751829	19751829	C	T	TBX1	c.664C>T	NM_080647.1	NP_542378.1:p.(Leu222=)	NC_000022.10:g.19751829C>T	(Likely) benign	3 labs	6b2dda147b
15:48888476 FBN1 T>C	15	48888476	48888476	T	C	FBN1	c.538+4A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48888476T>C	(Likely) benign	3 labs	6b3a3b2ba8
11:47362774 MYBPC3 G>A	11	47362774	47362774	G	A	MYBPC3	c.1812C>T	NM_000256.3	NP_000247.2:p.(Asp604=)	NC_000011.9:g.47362774G>A	(Likely) benign	2 labs	6b3a5f632f
1:196711150 CFH T>C	1	196711150	196711150	T	C	CFH	c.3102T>C	NM_000186.4	NP_000177.2:p.(Asn1034=)	NC_000001.10:g.196711150T>C	(Likely) benign	3 labs	6b3ce1cf8a
7:128413726 OPN1SW T>C	7	128413726	128413726	T	C	OPN1SW	c.895A>G	NM_001385125.1	NP_001372054.1:p.(Ile299Val)	NC_000007.13:g.128413726T>C	(Likely) benign	2 labs	6b3f29a3f7
7:151478456 PRKAG2 G>A	7	151478456	151478456	G	A	PRKAG2	c.248C>T	NM_016203.4	NP_057287.2:p.(Pro83Leu)	NC_000007.13:g.151478456G>A	(Likely) benign	2 labs	6b3f3a48ac
2:29287863 PCARE C>T	2	29287863	29287863	C	T	PCARE	c.3739G>A	NM_001029883.3	NP_001025054.1:p.(Gly1247Ser)	NC_000002.11:g.29287863C>T	(Likely) benign	3 labs	6b428d06d6
1:3328426 PRDM16 C>A	1	3328426	3328426	C	A	PRDM16	c.1665C>A	NM_022114.4	NP_071397.3:p.(Ala555=)	NC_000001.10:g.3328426C>A	(Likely) benign	3 labs	6b48a7e98d
10:69948838 MYPN T>G	10	69948838	69948838	T	G	MYPN	c.1998T>G	NM_001256268.2	NP_001243197.1:p.(Ser666=)	NC_000010.10:g.69948838T>G	(Likely) benign	4 labs	6b600dee97
2:219677412 CYP27A1 C>T	2	219677412	219677412	C	T	CYP27A1	c.784C>T	NM_000784.4	NP_000775.1:p.(Arg262Cys)	NC_000002.11:g.219677412C>T	VUS	3 labs	6b6a259303
2:220432785 OBSL1 G>GT	2	220432785	220432786	G	GT	OBSL1	c.1273dup	NM_015311.3	NP_056126.1:p.(Thr425AsnfsTer40)	NC_000002.11:g.220432786dup	(Likely) pathogenic	2 labs	6b6a4ebb3f
17:7750177 KDM6B TACCACC>T	17	7750177	7750216	TACCACC	T	KDM6B	c.786_791del	NM_001080424.2	NP_001073893.1:p.(Pro263_Pro264del)	NC_000017.10:g.7750211_7750216del	(Likely) benign	3 labs	6b725ce3ba
17:29683485 NF1 G>A	17	29683485	29683485	G	A	NF1	c.7623G>A	NM_001042492.3	NP_001035957.1:p.(Arg2541=)	NC_000017.10:g.29683485G>A	(Likely) benign	4 labs	6b7337b2e3
3:132196816 DNAJC13 A>T	3	132196816	132196816	A	T	DNAJC13	c.2550-9A>T	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132196816A>T	(Likely) benign	2 labs	6b78a09f8b
10:104263973 SUFU GC>G	10	104263973	104263980	GC	G	SUFU	c.71del	NM_016169.4	NP_057253.2:p.(Pro24ArgfsTer72)	NC_000010.10:g.104263980del	(Likely) pathogenic	2 labs	6b7d9ea969
5:125930950 ALDH7A1 C>T	5	125930950	125930950	C	T	ALDH7A1	c.-60G>A	NM_001202404.1	NP_001189333.2:p.?	NC_000005.9:g.125930950C>T	(Likely) benign	2 labs	6b8166e1b0
1:236907913 ACTN2 A>T	1	236907913	236907913	A	T	ACTN2	c.632-13A>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236907913A>T	(Likely) benign	3 labs	6b8ec20b3c
14:23884269 MYH7 G>A	14	23884269	23884269	G	A	MYH7	c.5494C>T	NM_000257.4	NP_000248.2:p.(Arg1832Cys)	NC_000014.8:g.23884269G>A	VUS	5 labs	6b90e7ed40
1:236924359 ACTN2 C>T	1	236924359	236924359	C	T	ACTN2	c.1788C>T	NM_001278344.2	NP_001265273.1:p.(Asn596=)	NC_000001.10:g.236924359C>T	(Likely) benign	2 labs	6ba6ec5a30
4:16014922 PROM1 G>A	4	16014922	16014922	G	A	PROM1	c.1090C>T	NM_001145847.2	NP_001139319.1:p.(Arg364Cys)	NC_000004.11:g.16014922G>A	(Likely) pathogenic	3 labs	6bad1fb640
X:66766356 AR TGGCGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGCGGC	T	AR	c.1409_1420del	NM_000044.6	NP_000035.2:p.(Gly470_Gly473del)	NC_000023.10:g.66766397_66766408del	(Likely) benign	3 labs	6baf8876e5
7:42005845 GLI3 C>G	7	42005845	42005845	C	G	GLI3	c.2826G>C	NM_000168.6	NP_000159.3:p.(Pro942=)	NC_000007.13:g.42005845C>G	(Likely) benign	3 labs	6bb0671676
7:138601602 KIAA1549 C>T	7	138601602	138601602	C	T	KIAA1549	c.2770G>A	NM_001164665.2	NP_001158137.1:p.(Val924Met)	NC_000007.13:g.138601602C>T	(Likely) benign	2 labs	6bb84dbcf9
10:17127603 CUBN T>C	10	17127603	17127603	T	C	CUBN	c.2103A>G	NM_001081.4	NP_001072.2:p.(Thr701=)	NC_000010.10:g.17127603T>C	(Likely) benign	2 labs	6bba67ee80
20:60893637 LAMA5 C>T	20	60893637	60893637	C	T	LAMA5	c.7112G>A	NM_005560.6	NP_005551.3:p.(Arg2371His)	NC_000020.10:g.60893637C>T	(Likely) benign	3 labs	6bbcd93087
3:32169631 GPD1L A>C	3	32169631	32169631	A	C	GPD1L	c.111A>C	NM_015141.4	NP_055956.1:p.(Thr37=)	NC_000003.11:g.32169631A>C	(Likely) benign	2 labs	6bbee5d83f
5:149515227 PDGFRB G>A	5	149515227	149515227	G	A	PDGFRB	c.255C>T	NM_002609.4	NP_002600.1:p.(Leu85=)	NC_000005.9:g.149515227G>A	(Likely) benign	2 labs	6bce97ff74
3:170184933 SLC7A14 C>T	3	170184933	170184933	C	T	SLC7A14	c.2226G>A	NM_020949.3	NP_066000.2:p.(Arg742=)	NC_000003.11:g.170184933C>T	(Likely) benign	2 labs	6bdd78ab5f
10:69299269 CTNNA3 C>A	10	69299269	69299269	C	A	CTNNA3	c.451G>T	NM_013266.4	NP_037398.2:p.(Val151Leu)	NC_000010.10:g.69299269C>A	VUS	2 labs	6be4e65d88
16:920728 LMF1 C>T	16	920728	920728	C	T	LMF1	c.833+1G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920728C>T	VUS	2 labs	6bf74daf3d
2:179571697 TTN C>T	2	179571697	179571697	C	T	TTN	c.29042-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179571697C>T	(Likely) benign	2 labs	6c094f6d31
14:23855357 MYH6 T>A	14	23855357	23855357	T	A	MYH6	c.4960-17A>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855357T>A	(Likely) benign	3 labs	6c0e848eed
4:100485244 MTTP G>C	4	100485244	100485244	G	C	MTTP				NC_000004.11:g.100485244G>C	(Likely) benign	2 labs	6c1d971fa4
3:38601619 SCN5A C>T	3	38601619	38601619	C	T	SCN5A	c.4245+19G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38601619C>T	(Likely) benign	2 labs	6c25a545fa
2:179485106 TTN A>G	2	179485106	179485106	A	G	TTN	c.46142T>C	NM_001267550.2	NP_001254479.2:p.(Val15381Ala)	NC_000002.11:g.179485106A>G	(Likely) benign	2 labs	6c286fc7be
1:216465694 USH2A G>C	1	216465694	216465694	G	C	USH2A	c.1663C>G	NM_206933.4	NP_996816.3:p.(Leu555Val)	NC_000001.10:g.216465694G>C	(Likely) benign	3 labs	6c3348c115
7:150648918 KCNH2 G>A	7	150648918	150648918	G	A	KCNH2	c.1563C>T	NM_000238.4	NP_000229.1:p.(Ile521=)	NC_000007.13:g.150648918G>A	(Likely) benign	4 labs	6c53ec8fd6
1:17319011 ATP13A2 G>A	1	17319011	17319011	G	A	ATP13A2	c.1800C>T	NM_001141973.3	NP_001135445.1:p.(Pro600=)	NC_000001.10:g.17319011G>A	(Likely) benign	3 labs	6c573c1994
2:71742846 DYSF C>T	2	71742846	71742846	C	T	DYSF	c.850C>T	NM_001130981.2	NP_001124453.1:p.(Arg284Trp)	NC_000002.11:g.71742846C>T	(Likely) pathogenic	2 labs	6c59188c19
2:207014657 NDUFS1 TAA>T	2	207014657	207014682	TAA	T	NDUFS1	c.154-10_154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014681_207014682del	(Likely) benign	2 labs	6c5b6d2790
12:57972039 KIF5A G>A	12	57972039	57972039	G	A	KIF5A	c.2452G>A	NM_004984.4	NP_004975.2:p.(Glu818Lys)	NC_000012.11:g.57972039G>A	VUS	2 labs	6c5b949dcb
13:32915249 BRCA2 C>G	13	32915249	32915249	C	G	BRCA2	c.6757C>G	NM_000059.4	NP_000050.3:p.(Leu2253Val)	NC_000013.10:g.32915249C>G	(Likely) benign	5 labs	6c62b3897d
14:23888759 MYH7 C>T	14	23888759	23888759	C	T	MYH7	c.3786G>A	NM_000257.4	NP_000248.2:p.(Lys1262=)	NC_000014.8:g.23888759C>T	(Likely) benign	2 labs	6c705e8b6f
1:215901561 USH2A TTG>T	1	215901561	215901566	TTG	T	USH2A	c.11875_11876del	NM_206933.4	NP_996816.3:p.(Gln3959AsnfsTer53)	NC_000001.10:g.215901565_215901566del	(Likely) pathogenic	2 labs	6c7359bb4b
11:85365174 TMEM126A A>G	11	85365174	85365174	A	G	TMEM126A	c.154A>G	NM_032273.4	NP_115649.1:p.(Ser52Gly)	NC_000011.9:g.85365174A>G	(Likely) benign	2 labs	6c7910ee3f
1:12071680 MFN2 A>G	1	12071680	12071680	A	G	MFN2	c.*58A>G	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12071680A>G	(Likely) benign	2 labs	6c7e747a26
19:7615942 PNPLA6 G>A	19	7615942	7615942	G	A	PNPLA6	c.2160G>A	NM_001166111.2	NP_001159583.1:p.(Leu720=)	NC_000019.9:g.7615942G>A	(Likely) benign	3 labs	6c82511bd0
X:153608604 EMD C>T	X	153608604	153608604	C	T	EMD	c.276C>T	NM_000117.3	NP_000108.1:p.(Asp92=)	NC_000023.10:g.153608604C>T	(Likely) benign	2 labs	6c834bb33b
18:25583088 CDH2 T>C	18	25583088	25583088	T	C	CDH2	c.893A>G	NM_001792.5	NP_001783.2:p.(Asn298Ser)	NC_000018.9:g.25583088T>C	VUS	2 labs	6c8dfab915
12:76741975 BBS10 A>G	12	76741975	76741975	A	G	BBS10	c.164T>C	NM_024685.4	NP_078961.3:p.(Leu55Pro)	NC_000012.11:g.76741975A>G	(Likely) pathogenic	3 labs	6c8833618f
1:17312558 ATP13A2 A>G	1	17312558	17312558	A	G	ATP13A2	c.3399T>C	NM_001141974.3	NP_001135446.1:p.(Val1133=)	NC_000001.10:g.17312558A>G	(Likely) benign	2 labs	6c8c23aa38
10:68139055 CTNNA3 A>T	10	68139055	68139055	A	T	CTNNA3	c.1587T>A	NM_013266.4	NP_037398.2:p.(Asp529Glu)	NC_000010.10:g.68139055A>T	(Likely) benign	2 labs	6ca99f6c8c
16:28906179 ATP2A1 G>A	16	28906179	28906179	G	A	ATP2A1	c.1324G>A	NM_004320.6	NP_004311.1:p.(Glu442Lys)	NC_000016.9:g.28906179G>A	VUS	2 labs	6c9dcad849
1:103548505 COL11A1 C>T	1	103548505	103548505	C	T	COL11A1	c.130G>A	NM_080629.3	NP_542196.2:p.(Ala44Thr)	NC_000001.10:g.103548505C>T	(Likely) benign	2 labs	6c9e6f9d22
6:7585514 DSP C>T	6	7585514	7585514	C	T	DSP	c.8019C>T	NM_004415.4	NP_004406.2:p.(Asp2673=)	NC_000006.11:g.7585514C>T	(Likely) benign	2 labs	6ca10543a9
7:150644505 KCNH2 G>A	7	150644505	150644505	G	A	KCNH2	c.3063C>T	NM_000238.4	NP_000229.1:p.(Ser1021=)	NC_000007.13:g.150644505G>A	(Likely) benign	2 labs	6cabfd52a1
6:70976444 COL9A1 A>G	6	70976444	70976444	A	G	COL9A1	c.1317T>C	NM_001851.6	NP_001842.3:p.(Gly439=)	NC_000006.11:g.70976444A>G	(Likely) benign	2 labs	6cb7703ac7
19:38990449 RYR1 G>A	19	38990449	38990449	G	A	RYR1	c.7202G>A	NM_000540.3	NP_000531.2:p.(Arg2401Gln)	NC_000019.9:g.38990449G>A	VUS	2 labs	6cbbddab4d
12:996383 WNK1 G>A	12	996383	996383	G	A	WNK1	c.6061-4G>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.996383G>A	(Likely) benign	2 labs	6cc2ec8a4b
8:10468709 RP1L1 C>T	8	10468709	10468709	C	T	RP1L1	c.2899G>A	NM_178857.6	NP_849188.4:p.(Glu967Lys)	NC_000008.10:g.10468709C>T	(Likely) benign	3 labs	6ce28d83f7
21:47552262 COL6A2 G>A	21	47552262	47552262	G	A	COL6A2	c.2856G>A	NM_001849.4	NP_001840.3:p.(Thr952=)	NC_000021.8:g.47552262G>A	(Likely) benign	2 labs	6cf131cd14
12:49437728 KMT2D C>T	12	49437728	49437728	C	T	KMT2D	c.5242G>A	NM_003482.4	NP_003473.3:p.(Gly1748Arg)	NC_000012.11:g.49437728C>T	VUS	2 labs	6cf172ebf1
9:130588080 ENG C>T	9	130588080	130588080	C	T	ENG	c.583G>A	NM_000118.3	NP_000109.1:p.(Glu195Lys)	NC_000009.11:g.130588080C>T	VUS	2 labs	6cf4bb7e95
1:236899899 ACTN2 TC>T	1	236899899	236899904	TC	T	ACTN2	c.95del	NM_001278344.2	NP_001265273.1:p.(Pro32LeufsTer12)	NC_000001.10:g.236899904del	(Likely) benign	3 labs	6cf07a27fe
14:23872551 MYH6 G>T	14	23872551	23872551	G	T	MYH6	c.898+6C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872551G>T	(Likely) benign	2 labs	6d040e008f
11:4112541 STIM1 C>T	11	4112541	4112541	C	T	STIM1	c.1889C>T	NM_001277961.3	NP_001264890.1:p.(Ser630Phe)	NC_000011.9:g.4112541C>T	(Likely) benign	4 labs	6d0ac8c517
12:40757330 LRRK2 A>G	12	40757330	40757330	A	G	LRRK2	c.7155A>G	NM_198578.4	NP_940980.4:p.(Gly2385=)	NC_000012.11:g.40757330A>G	(Likely) benign	2 labs	6d21addfa6
17:48267382 COL1A1 C>T	17	48267382	48267382	C	T	COL1A1	c.2539G>A	NM_000088.4	NP_000079.2:p.(Ala847Thr)	NC_000017.10:g.48267382C>T	(Likely) benign	2 labs	6d25560c0d
1:236898942 ACTN2 G>C	1	236898942	236898942	G	C	ACTN2	c.705G>C	NM_001103.4	NP_001094.1:p.(Val235=)	NC_000001.10:g.236898942G>C	(Likely) benign	2 labs	6d27cd1225
6:65596611 EYS G>A	6	65596611	65596611	G	A	EYS	c.2971C>T	NM_001292009.2	NP_001278938.1:p.(Leu991Phe)	NC_000006.11:g.65596611G>A	VUS	2 labs	6d28cb3ad2
8:87638255 CNGB3 T>C	8	87638255	87638255	T	C	CNGB3	c.1534A>G	NM_019098.5	NP_061971.3:p.(Ile512Val)	NC_000008.10:g.87638255T>C	(Likely) benign	2 labs	6d2b13966b
6:112513042 LAMA4 C>T	6	112513042	112513042	C	T	LAMA4	c.514G>A	NM_001105206.3	NP_001098676.2:p.(Gly172Ser)	NC_000006.11:g.112513042C>T	(Likely) benign	4 labs	6d342926b2
2:73675520 ALMS1 C>T	2	73675520	73675520	C	T	ALMS1	c.1869C>T	NM_015120.4	NP_055935.4:p.(Tyr623=)	NC_000002.11:g.73675520C>T	(Likely) benign	2 labs	6d416b534a
15:45409271 DUOXA2 C>T	15	45409271	45409271	C	T	DUOXA2	c.555-18C>T	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45409271C>T	(Likely) benign	2 labs	6d538a37c0
13:32972380 BRCA2 G>A	13	32972380	32972380	G	A	BRCA2	c.9730G>A	NM_000059.4	NP_000050.3:p.(Val3244Ile)	NC_000013.10:g.32972380G>A	(Likely) benign	6 labs	6d4b77f1d0
3:38662459 SCN5A G>A	3	38662459	38662459	G	A	SCN5A	c.486C>T	NM_198056.3	NP_932173.1:p.(Tyr162=)	NC_000003.11:g.38662459G>A	(Likely) benign	4 labs	6d53a756d2
12:7177214 C1S C>T	12	7177214	7177214	C	T	C1S	c.1326C>T	NM_001734.5	NP_001725.1:p.(Ser442=)	NC_000012.11:g.7177214C>T	(Likely) benign	3 labs	6d57a3173b
5:127855015 FBN2 G>C	5	127855015	127855015	G	C	FBN2	c.579C>G	NM_001999.4	NP_001990.2:p.(Pro193=)	NC_000005.9:g.127855015G>C	(Likely) benign	2 labs	6d70250c8e
15:34529710 SLC12A6 T>C	15	34529710	34529710	T	C	SLC12A6	c.2844A>G	NM_133647.2	NP_598408.1:p.(Gln948=)	NC_000015.9:g.34529710T>C	(Likely) benign	2 labs	6d78b6001e
1:196711098 CFH C>T	1	196711098	196711098	C	T	CFH	c.3050C>T	NM_000186.4	NP_000177.2:p.(Thr1017Ile)	NC_000001.10:g.196711098C>T	(Likely) benign	3 labs	6dafda1d67
10:73562833 CDH23 G>T	10	73562833	73562833	G	T	CDH23	c.7660+1G>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73562833G>T	(Likely) pathogenic	2 labs	6db2997ce8
X:130412664 IGSF1 C>T	X	130412664	130412664	C	T	IGSF1	c.1827G>A	NM_001170961.2	NP_001164432.1:p.(Pro609=)	NC_000023.10:g.130412664C>T	(Likely) benign	2 labs	6db4308139
2:179633625 TTN C>T	2	179633625	179633625	C	T	TTN	c.8938G>A	NM_001267550.2	NP_001254479.2:p.(Ala2980Thr)	NC_000002.11:g.179633625C>T	(Likely) benign	2 labs	6db9a63fd4
7:128480620 FLNC T>C	7	128480620	128480620	T	C	FLNC	c.1568T>C	NM_001458.5	NP_001449.3:p.(Val523Ala)	NC_000007.13:g.128480620T>C	VUS	2 labs	6dbc310dfc
5:90040920 ADGRV1 G>A	5	90040920	90040920	G	A	ADGRV1	c.10607G>A	NM_032119.4	NP_115495.3:p.(Arg3536His)	NC_000005.9:g.90040920G>A	(Likely) benign	2 labs	6dcba0c499
16:89620902 SPG7 ACTGCTGGTGGCCAAGGC>A	16	89620902	89620921	ACTGCTGGTGGCCAAGGC	A	SPG7	c.2115_2131del	NM_003119.4	NP_003110.1:p.(Leu706GlnfsTer30)	NC_000016.9:g.89620905_89620921del	(Likely) pathogenic	3 labs	6dd1e343c0
7:66103309 KCTD7 G>A	7	66103309	66103309	G	A	KCTD7	c.384G>A	NM_153033.5	NP_694578.1:p.(Glu128=)	NC_000007.13:g.66103309G>A	(Likely) benign	3 labs	6ddd69ef27
21:44589270 CRYAA C>T	21	44589270	44589270	C	T	CRYAA	c.61C>T	NM_000394.4	NP_000385.1:p.(Arg21Trp)	NC_000021.8:g.44589270C>T	(Likely) pathogenic	2 labs	6de5c52003
17:40766978 TUBG1 G>A	17	40766978	40766978	G	A	TUBG1	c.1275G>A	NM_001070.5	NP_001061.2:p.(Arg425=)	NC_000017.10:g.40766978G>A	(Likely) benign	2 labs	6de6441946
6:42933454 PEX6 C>T	6	42933454	42933454	C	T	PEX6	c.2436G>A	NM_000287.4	NP_000278.3:p.(Arg812=)	NC_000006.11:g.42933454C>T	(Likely) benign	2 labs	6dea4b33b7
13:32950791 BRCA2 C>G	13	32950791	32950791	C	G	BRCA2	c.8633-16C>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950791C>G	(Likely) benign	2 labs	6df3f7d012
15:52611545 MYO5A G>A	15	52611545	52611545	G	A	MYO5A	c.4877-6C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52611545G>A	(Likely) benign	2 labs	6df583dd7b
9:111656280 ELP1 T>A	9	111656280	111656280	T	A	ELP1	c.2803A>T	NM_003640.5	NP_003631.2:p.(Thr935Ser)	NC_000009.11:g.111656280T>A	VUS	2 labs	6df7bd4d2c
17:36482628 GPR179 A>G	17	36482628	36482628	A	G	GPR179	c.6824T>C	NM_001004334.4	NP_001004334.3:p.(Leu2275Pro)	NC_000017.10:g.36482628A>G	(Likely) benign	2 labs	6dff1fc5ce
12:57971848 KIF5A G>A	12	57971848	57971848	G	A	KIF5A	c.2418G>A	NM_004984.4	NP_004975.2:p.(Thr806=)	NC_000012.11:g.57971848G>A	(Likely) benign	2 labs	6e14eb8438
11:88924446 TYR G>A	11	88924446	88924446	G	A	TYR	c.896G>A	NM_000372.5	NP_000363.1:p.(Arg299His)	NC_000011.9:g.88924446G>A	(Likely) pathogenic	2 labs	6e281492e9
10:73472450 CDH23 G>A	10	73472450	73472450	G	A	CDH23	c.3249G>A	NM_022124.6	NP_071407.4:p.(Thr1083=)	NC_000010.10:g.73472450G>A	(Likely) benign	2 labs	6e3a433a40
19:16593329 CALR3 C>T	19	16593329	16593329	C	T	CALR3	c.850G>A	NM_145046.5	NP_659483.2:p.(Asp284Asn)	NC_000019.9:g.16593329C>T	(Likely) benign	4 labs	6e3fdeaae6
19:49671207 TRPM4 G>A	19	49671207	49671207	G	A	TRPM4	c.301G>A	NM_017636.4	NP_060106.2:p.(Ala101Thr)	NC_000019.9:g.49671207G>A	(Likely) benign	3 labs	6e53099c77
14:105180652 INF2 C>T	14	105180652	105180652	C	T	INF2	c.3153C>T	NM_022489.4	NP_071934.3:p.(Asp1051=)	NC_000014.8:g.105180652C>T	(Likely) benign	2 labs	6e57622038
11:5248173 HBB C>T	11	5248173	5248173	C	T	HBB	c.79G>A	NM_000518.5	NP_000509.1:p.(Glu27Lys)	NC_000011.9:g.5248173C>T	(Likely) pathogenic	2 labs	6e5ce3eae0
18:48604676 SMAD4 A>G	18	48604676	48604676	A	G	SMAD4	c.1498A>G	NM_005359.6	NP_005350.1:p.(Ile500Val)	NC_000018.9:g.48604676A>G	(Likely) pathogenic	4 labs	6e5f390f48
2:179558419 TTN TA>T	2	179558419	179558426	TA	T	TTN	c.31514-4del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179558426del	(Likely) benign	3 labs	6e61684d44
21:46931004 COL18A1 T>TAC	21	46931004	46931010	T	TAC	COL18A1	c.4930-16_4930-15dup	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46931009_46931010dup	(Likely) benign	2 labs	6e6c462830
6:66112448 EYS G>A	6	66112448	66112448	G	A	EYS	c.1107C>T	NM_001292009.2	NP_001278938.1:p.(Ser369=)	NC_000006.11:g.66112448G>A	(Likely) benign	2 labs	6e70dcbfe2
7:153750071 DPP6 C>CGCGGCG	7	153750071	153750092	C	CGCGGCG	DPP6	c.182_187dup	NM_130797.4	NP_570629.2:p.(Gly61_Gly62dup)	NC_000007.13:g.153750087_153750092dup	(Likely) benign	2 labs	6e834a1f25
7:112101909 IFRD1 T>A	7	112101909	112101909	T	A	IFRD1	c.568-12T>A	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101909T>A	(Likely) benign	2 labs	6e903b8f10
7:151483595 PRKAG2 G>A	7	151483595	151483595	G	A	PRKAG2	c.147C>T	NM_016203.4	NP_057287.2:p.(Asp49=)	NC_000007.13:g.151483595G>A	(Likely) benign	3 labs	6e9178474d
1:47882227 FOXE3 C>T	1	47882227	47882227	C	T	FOXE3	c.240C>T	NM_012186.3	NP_036318.1:p.(Ile80=)	NC_000001.10:g.47882227C>T	(Likely) benign	2 labs	6eac80527c
6:7585976 DSP C>T	6	7585976	7585976	C	T	DSP	c.8481C>T	NM_004415.4	NP_004406.2:p.(Ser2827=)	NC_000006.11:g.7585976C>T	(Likely) benign	3 labs	6eb25ccd6a
2:179554294 TTN T>G	2	179554294	179554294	T	G	TTN	c.31875A>C	NM_001267550.2	NP_001254479.2:p.(Thr10625=)	NC_000002.11:g.179554294T>G	(Likely) benign	2 labs	6eb45343db
1:26385003 TRIM63 T>C	1	26385003	26385003	T	C	TRIM63	c.709A>G	NM_032588.4	NP_115977.2:p.(Lys237Glu)	NC_000001.10:g.26385003T>C	(Likely) benign	2 labs	6eb527df46
2:179527075 TTN T>C	2	179527075	179527075	T	C	TTN	c.37029A>G	NM_001267550.2	NP_001254479.2:p.(Pro12343=)	NC_000002.11:g.179527075T>C	(Likely) benign	4 labs	6ec5861dbe
7:128475604 FLNC G>A	7	128475604	128475604	G	A	FLNC	c.577G>A	NM_001458.5	NP_001449.3:p.(Ala193Thr)	NC_000007.13:g.128475604G>A	(Likely) pathogenic	2 labs	6ed64a362d
8:55533805 RP1 G>T	8	55533805	55533805	G	T	RP1	c.279G>T	NM_006269.2	NP_006260.1:p.(Thr93=)	NC_000008.10:g.55533805G>T	(Likely) benign	2 labs	6ed950e9f3
14:23857507 MYH6 C>T	14	23857507	23857507	C	T	MYH6	c.4216G>A	NM_002471.4	NP_002462.2:p.(Val1406Met)	NC_000014.8:g.23857507C>T	VUS	4 labs	6edc1b8c9f
5:7875375 MTRR C>T	5	7875375	7875375	C	T	MTRR	c.288C>T	NM_002454.3	NP_002445.2:p.(Leu96=)	NC_000005.9:g.7875375C>T	(Likely) benign	2 labs	6ede8a7ae8
10:92675645 ANKRD1 A>G	10	92675645	92675645	A	G	ANKRD1	c.652-8T>C	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675645A>G	(Likely) benign	2 labs	6ee19294e3
2:179423203 TTN C>T	2	179423203	179423203	C	T	TTN	c.86983G>A	NM_001267550.2	NP_001254479.2:p.(Ala28995Thr)	NC_000002.11:g.179423203C>T	VUS	2 labs	6eebb6cb33
19:2121823 AP3D1 G>A	19	2121823	2121823	G	A	AP3D1	c.1011C>T	NM_001261826.3	NP_001248755.1:p.(Ser337=)	NC_000019.9:g.2121823G>A	(Likely) benign	2 labs	6ef3c6e18b
4:36345220 DTHD1 CCATTCAGCT>C	4	36345220	36345232	CCATTCAGCT	C	DTHD1	c.2499_2507del	NM_001170700.3	NP_001164171.2:p.(Gln834_Ile836del)	NC_000004.11:g.36345224_36345232del	(Likely) benign	2 labs	6ef5ad1591
7:128487764 FLNC C>T	7	128487764	128487764	C	T	FLNC	c.4302C>T	NM_001458.5	NP_001449.3:p.(Arg1434=)	NC_000007.13:g.128487764C>T	(Likely) benign	3 labs	6ef8ed2369
1:168074131 GPR161 G>A	1	168074131	168074131	G	A	GPR161	c.18C>T	NM_001267609.1	NP_001254538.1:p.(Val6=)	NC_000001.10:g.168074131G>A	(Likely) benign	2 labs	6efc5c4b0b
16:15865472 MYH11 G>A	16	15865472	15865472	G	A	MYH11	c.1008C>T	NM_001040113.2	NP_001035202.1:p.(Thr336=)	NC_000016.9:g.15865472G>A	(Likely) benign	2 labs	6f1a52026c
2:179456154 TTN C>T	2	179456154	179456154	C	T	TTN	c.60298G>A	NM_001267550.2	NP_001254479.2:p.(Ala20100Thr)	NC_000002.11:g.179456154C>T	VUS	2 labs	6f2370408c
13:32912680 BRCA2 A>G	13	32912680	32912680	A	G	BRCA2	c.4188A>G	NM_000059.4	NP_000050.3:p.(Gln1396=)	NC_000013.10:g.32912680A>G	(Likely) benign	2 labs	6f25835085
5:77458689 AP3B1 A>C	5	77458689	77458689	A	C	AP3B1	c.1170T>G	NM_001271769.2	NP_001258698.1:p.(Thr390=)	NC_000005.9:g.77458689A>C	(Likely) benign	3 labs	6f2ae1b28e
6:32029249 TNXB G>A	6	32029249	32029249	G	A	TNXB	c.7417C>T	NM_019105.8	NP_061978.6:p.(Arg2473Cys)	NC_000006.11:g.32029249G>A	(Likely) benign	2 labs	6f332735d3
22:29121212 CHEK2 A>G	22	29121212	29121212	A	G	CHEK2	c.444+19T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121212A>G	(Likely) benign	3 labs	6f40c3a3de
2:47710314 MSH2 A>G	2	47710314	47710314	A	G	MSH2	c.*226A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47710314A>G	(Likely) benign	3 labs	6f44f6e155
11:108114678 ATM A>C	11	108114678	108114678	A	C	ATM	c.497-2A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114678A>C	(Likely) pathogenic	2 labs	6f4b631fde
11:6654043 DCHS1 C>T	11	6654043	6654043	C	T	DCHS1	c.2700G>A	NM_003737.4	NP_003728.1:p.(Thr900=)	NC_000011.9:g.6654043C>T	(Likely) benign	3 labs	6f4b688956
5:179252184 SQSTM1 A>G	5	179252184	179252184	A	G	SQSTM1	c.712A>G	NM_003900.5	NP_003891.1:p.(Lys238Glu)	NC_000005.9:g.179252184A>G	(Likely) benign	3 labs	6f632ded32
5:127668685 FBN2 G>T	5	127668685	127668685	G	T	FBN2	c.4141C>A	NM_001999.4	NP_001990.2:p.(His1381Asn)	NC_000005.9:g.127668685G>T	(Likely) benign	3 labs	6f6d1769a9
1:150531828 ADAMTSL4 G>A	1	150531828	150531828	G	A	ADAMTSL4	c.2829G>A	NM_019032.6	NP_061905.2:p.(Thr943=)	NC_000001.10:g.150531828G>A	(Likely) benign	2 labs	6f6eec149d
5:37179551 CPLANE1 G>A	5	37179551	37179551	G	A	CPLANE1	c.5738-6C>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37179551G>A	(Likely) benign	2 labs	6f6f29bfe1
3:132226070 DNAJC13 CTT>C	3	132226070	132226074	CTT	C	DNAJC13	c.4999-8_4999-7del	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132226073_132226074del	(Likely) benign	2 labs	6f72b6cc19
2:112686737 MERTK A>G	2	112686737	112686737	A	G	MERTK	c.102A>G	NM_006343.3	NP_006334.2:p.(Leu34=)	NC_000002.11:g.112686737A>G	(Likely) benign	2 labs	6f73294324
11:68177429 LRP5 G>A	11	68177429	68177429	G	A	LRP5	c.396G>A	NM_001291902.2	NP_001278831.1:p.(Val132=)	NC_000011.9:g.68177429G>A	(Likely) benign	2 labs	6f74faf7d2
13:114321861 GRK1 C>T	13	114321861	114321861	C	T	GRK1	c.160C>T	NM_002929.3	NP_002920.1:p.(Leu54Phe)	NC_000013.10:g.114321861C>T	(Likely) benign	2 labs	6f7bcc593a
2:179466400 TTN T>C	2	179466400	179466400	T	C	TTN	c.55417A>G	NM_001267550.2	NP_001254479.2:p.(Arg18473Gly)	NC_000002.11:g.179466400T>C	(Likely) benign	2 labs	6f7c2289ec
2:179416989 TTN A>G	2	179416989	179416989	A	G	TTN	c.90638T>C	NM_001267550.2	NP_001254479.2:p.(Ile30213Thr)	NC_000002.11:g.179416989A>G	(Likely) benign	5 labs	6f829a422a
X:152771326 BGN C>T	X	152771326	152771326	C	T	BGN	c.357C>T	NM_001711.6	NP_001702.1:p.(Leu119=)	NC_000023.10:g.152771326C>T	(Likely) benign	3 labs	6f82f17984
16:8941568 PMM2 C>T	16	8941568	8941568	C	T	PMM2	c.640-13C>T	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8941568C>T	(Likely) benign	2 labs	6f98085dc1
14:75516351 MLH3 T>C	14	75516351	75516351	T	C	MLH3	c.8A>G	NM_001040108.2	NP_001035197.1:p.(Lys3Arg)	NC_000014.8:g.75516351T>C	(Likely) benign	3 labs	6fa780f00c
16:88497219 ZNF469 G>T	16	88497219	88497219	G	T	ZNF469	c.3341G>T	NM_001367624.2	NP_001354553.1:p.(Arg1114Leu)	NC_000016.9:g.88497219G>T	(Likely) benign	2 labs	6fa99b0fc2
11:18318354 HPS5 C>T	11	18318354	18318354	C	T	HPS5	c.1501G>A	NM_181507.2	NP_852608.1:p.(Gly501Arg)	NC_000011.9:g.18318354C>T	(Likely) benign	3 labs	6faa8ace42
3:53765178 CACNA1D G>A	3	53765178	53765178	G	A	CACNA1D	c.2466+5G>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53765178G>A	(Likely) benign	2 labs	6faf3a60ea
10:69925568 MYPN C>T	10	69925568	69925568	C	T	MYPN	c.1593C>T	NM_032578.4	NP_115967.2:p.(His531=)	NC_000010.10:g.69925568C>T	(Likely) benign	2 labs	6fbb5a6c7d
3:127788409 SEC61A1 C>T	3	127788409	127788409	C	T	SEC61A1	c.1335C>T	NM_013336.4	NP_037468.1:p.(Thr445=)	NC_000003.11:g.127788409C>T	(Likely) benign	2 labs	6fc136da92
6:152690150 SYNE1 G>A	6	152690150	152690150	G	A	SYNE1	c.9785C>T	NM_033071.4	NP_149062.2:p.(Ser3262Leu)	NC_000006.11:g.152690150G>A	(Likely) benign	2 labs	6fca1ca5f1
1:3328819 PRDM16 G>A	1	3328819	3328819	G	A	PRDM16	c.2058G>A	NM_022114.4	NP_071397.3:p.(Thr686=)	NC_000001.10:g.3328819G>A	(Likely) benign	2 labs	6fce5c2f00
2:219679182 CYP27A1 G>A	2	219679182	219679182	G	A	CYP27A1	c.1263+1G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219679182G>A	(Likely) pathogenic	2 labs	6fd0400373
2:189855064 COL3A1 T>C	2	189855064	189855064	T	C	COL3A1	c.776T>C	NM_000090.4	NP_000081.2:p.(Phe259Ser)	NC_000002.11:g.189855064T>C	VUS	3 labs	6fd25bfc26
6:112486416 LAMA4 C>T	6	112486416	112486416	C	T	LAMA4	c.1614G>A	NM_001105206.3	NP_001098676.2:p.(Ala538=)	NC_000006.11:g.112486416C>T	(Likely) benign	4 labs	6fe66cd59b
14:23887537 MYH7 TCTC>T	14	23887537	23887546	TCTC	T	MYH7	c.4048_4050del	NM_000257.4	NP_000248.2:p.(Glu1350del)	NC_000014.8:g.23887544_23887546del	VUS	3 labs	70025583cb
2:179659892 TTN G>A	2	179659892	179659892	G	A	TTN	c.1002C>T	NM_001267550.2	NP_001254479.2:p.(Thr334=)	NC_000002.11:g.179659892G>A	(Likely) benign	4 labs	7005af823b
7:151372608 PRKAG2 C>T	7	151372608	151372608	C	T	PRKAG2	c.582G>A	NM_016203.4	NP_057287.2:p.(Ser194=)	NC_000007.13:g.151372608C>T	(Likely) benign	2 labs	7008d8728f
1:156108360 LMNA CCTGCCGACAAGGCAT>C	1	156108360	156108380	CCTGCCGACAAGGCAT	C	LMNA	c.1786_1800del	NM_170707.4	NP_733821.1:p.(Asp596_Ala600del)	NC_000001.10:g.156108366_156108380del	VUS	2 labs	700bca65ff
8:10467503 RP1L1 C>T	8	10467503	10467503	C	T	RP1L1	c.4105G>A	NM_178857.6	NP_849188.4:p.(Glu1369Lys)	NC_000008.10:g.10467503C>T	(Likely) benign	2 labs	700c213297
8:55542115 RP1 G>T	8	55542115	55542115	G	T	RP1	c.5673G>T	NM_006269.2	NP_006260.1:p.(Leu1891Phe)	NC_000008.10:g.55542115G>T	VUS	2 labs	70134bb215
19:15285055 NOTCH3 C>A	19	15285055	15285055	C	A	NOTCH3	c.4560G>T	NM_000435.3	NP_000426.2:p.(Pro1520=)	NC_000019.9:g.15285055C>A	(Likely) benign	3 labs	70142f18f1
3:38601797 SCN5A C>T	3	38601797	38601797	C	T	SCN5A	c.4086G>A	NM_198056.3	NP_932173.1:p.(Arg1362=)	NC_000003.11:g.38601797C>T	(Likely) benign	3 labs	702392c1e1
16:1576647 IFT140 G>A	16	1576647	1576647	G	A	IFT140	c.2550C>T	NM_014714.4	NP_055529.2:p.(Ala850=)	NC_000016.9:g.1576647G>A	(Likely) benign	2 labs	7027cee6fc
2:238277795 COL6A3 A>G	2	238277795	238277795	A	G	COL6A3	c.4311T>C	NM_004369.4	NP_004360.2:p.(Ile1437=)	NC_000002.11:g.238277795A>G	(Likely) benign	3 labs	7029e1765f
1:3350336 PRDM16 G>A	1	3350336	3350336	G	A	PRDM16	c.3792G>A	NM_022114.4	NP_071397.3:p.(Thr1264=)	NC_000001.10:g.3350336G>A	(Likely) benign	2 labs	703033c1b3
1:237551436 RYR2 C>T	1	237551436	237551436	C	T	RYR2	c.726C>T	NM_001035.3	NP_001026.2:p.(Asp242=)	NC_000001.10:g.237551436C>T	(Likely) benign	2 labs	7031ebc2ca
7:94038679 COL1A2 G>A	7	94038679	94038679	G	A	COL1A2	c.838G>A	NM_000089.4	NP_000080.2:p.(Gly280Ser)	NC_000007.13:g.94038679G>A	(Likely) pathogenic	2 labs	7039f15e3e
10:88466405 LDB3 A>G	10	88466405	88466405	A	G	LDB3	c.1014A>G	NM_007078.3	NP_009009.1:p.(Thr338=)	NC_000010.10:g.88466405A>G	(Likely) benign	2 labs	703c388303
2:15613369 NBAS C>T	2	15613369	15613369	C	T	NBAS	c.1702G>A	NM_015909.4	NP_056993.2:p.(Val568Ile)	NC_000002.11:g.15613369C>T	(Likely) benign	2 labs	703cfe99c4
5:127671227 FBN2 T>C	5	127671227	127671227	T	C	FBN2	c.3767A>G	NM_001999.4	NP_001990.2:p.(Gln1256Arg)	NC_000005.9:g.127671227T>C	(Likely) benign	3 labs	70408083c2
2:179393482 TTN G>T	2	179393482	179393482	G	T	TTN	c.106996C>A	NM_001267550.2	NP_001254479.2:p.(Gln35666Lys)	NC_000002.11:g.179393482G>T	VUS	2 labs	704a435f0c
2:44079507 ABCG8 C>T	2	44079507	44079507	C	T	ABCG8	c.576C>T	NM_022437.3	NP_071882.1:p.(Ile192=)	NC_000002.11:g.44079507C>T	(Likely) benign	2 labs	704e1cc3b5
16:15808776 MYH11 T>C	16	15808776	15808776	T	C	MYH11	c.5797A>G	NM_001040113.2	NP_001035202.1:p.(Ser1933Gly)	NC_000016.9:g.15808776T>C	VUS	2 labs	7054422ef9
15:44878053 SPG11 G>A	15	44878053	44878053	G	A	SPG11	c.4907-5C>T	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44878053G>A	(Likely) benign	2 labs	705dd678e4
10:88441546 LDB3 C>T	10	88441546	88441546	C	T	LDB3	c.675C>T	NM_001171610.2	NP_001165081.1:p.(Val225=)	NC_000010.10:g.88441546C>T	(Likely) benign	2 labs	7070841d60
2:179577440 TTN T>C	2	179577440	179577440	T	C	TTN	c.27312A>G	NM_001267550.2	NP_001254479.2:p.(Thr9104=)	NC_000002.11:g.179577440T>C	(Likely) benign	2 labs	70753c7fed
2:179397930 TTN C>T	2	179397930	179397930	C	T	TTN	c.103412G>A	NM_001267550.2	NP_001254479.2:p.(Arg34471Gln)	NC_000002.11:g.179397930C>T	(Likely) benign	3 labs	70780bf57c
18:29175237 TTR G>A	18	29175237	29175237	G	A	TTR	c.336+19G>A	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29175237G>A	(Likely) benign	4 labs	70b1a3e060
4:88536886 DSPP CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT>C	4	88536886	88536921	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C	DSPP	c.3075_3107del	NM_014208.3	NP_055023.2:p.(Asp1026_Ser1036del)	NC_000004.11:g.88536889_88536921del	(Likely) benign	2 labs	70b7cf0ef9
16:31201355 FUS C>T	16	31201355	31201355	C	T	FUS	c.1067-6C>T	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31201355C>T	(Likely) benign	3 labs	70c0d2c252
18:2769780 SMCHD1 C>T	18	2769780	2769780	C	T	SMCHD1	c.4808C>T	NM_015295.3	NP_056110.2:p.(Thr1603Ile)	NC_000018.9:g.2769780C>T	(Likely) benign	2 labs	70cc5542e7
15:31294258 TRPM1 C>G	15	31294258	31294258	C	G	TRPM1	c.4696G>C	NM_001252020.2	NP_001238949.1:p.(Asp1566His)	NC_000015.9:g.31294258C>G	VUS	2 labs	70ceca60b3
20:45354005 SLC2A10 C>T	20	45354005	45354005	C	T	SLC2A10	c.330C>T	NM_030777.4	NP_110404.1:p.(Phe110=)	NC_000020.10:g.45354005C>T	(Likely) benign	2 labs	70cfa4e20c
4:126402890 FAT4 G>A	4	126402890	126402890	G	A	FAT4	c.12819G>A	NM_001291303.3	NP_001278232.1:p.(Val4273=)	NC_000004.11:g.126402890G>A	(Likely) benign	3 labs	70d7af3a16
9:32986040 APTX A>C	9	32986040	32986040	A	C	APTX	c.484-12T>G	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986040A>C	(Likely) benign	2 labs	70d7ed7860
7:94040345 COL1A2 GT>G	7	94040345	94040361	GT	G	COL1A2	c.1252-7del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040361del	(Likely) benign	4 labs	70dda4c1d8
1:236894572 ACTN2 G>A	1	236894572	236894572	G	A	ACTN2	c.655G>A	NM_001103.4	NP_001094.1:p.(Ala219Thr)	NC_000001.10:g.236894572G>A	VUS	2 labs	70e7093a91
X:153582311 FLNA G>A	X	153582311	153582311	G	A	FLNA	c.5658C>T	NM_001110556.2	NP_001104026.1:p.(Phe1886=)	NC_000023.10:g.153582311G>A	(Likely) benign	2 labs	70eeebc9c6
1:111660846 DRAM2 A>G	1	111660846	111660846	A	G	DRAM2	c.737T>C	NM_178454.6	NP_848549.3:p.(Leu246Pro)	NC_000001.10:g.111660846A>G	VUS	2 labs	70f37ef2b4
11:128781360 KCNJ5 C>T	11	128781360	128781360	C	T	KCNJ5	c.192C>T	NM_000890.5	NP_000881.3:p.(His64=)	NC_000011.9:g.128781360C>T	(Likely) benign	2 labs	70f9560a90
X:70597567 TAF1 C>CAGG	X	70597567	70597573	C	CAGG	TAF1	c.833_835dup	NM_004606.5	NP_004597.3:p.(Glu278dup)	NC_000023.10:g.70597571_70597573dup	(Likely) benign	3 labs	70f6afe7c7
16:67977925 LCAT A>G	16	67977925	67977925	A	G	LCAT	c.80T>C	NM_000229.2	NP_000220.1:p.(Leu27Pro)	NC_000016.9:g.67977925A>G	VUS	2 labs	7101984f06
11:65319750 LTBP3 C>T	11	65319750	65319750	C	T	LTBP3	c.1314G>A	NM_001130144.3	NP_001123616.1:p.(Ala438=)	NC_000011.9:g.65319750C>T	(Likely) benign	3 labs	7101d58b3a
6:32014190 TNXB G>A	6	32014190	32014190	G	A	TNXB	c.10362C>T	NM_019105.8	NP_061978.6:p.(Thr3454=)	NC_000006.11:g.32014190G>A	(Likely) benign	2 labs	71068eddeb
11:108188234 ATM T>C	11	108188234	108188234	T	C	ATM	c.6333T>C	NM_000051.4	NP_000042.3:p.(His2111=)	NC_000011.9:g.108188234T>C	(Likely) benign	2 labs	7118a06e88
16:88499218 ZNF469 C>T	16	88499218	88499218	C	T	ZNF469	c.5340C>T	NM_001367624.2	NP_001354553.1:p.(Pro1780=)	NC_000016.9:g.88499218C>T	(Likely) benign	2 labs	7118a0a5d0
2:202593775 ALS2 C>T	2	202593775	202593775	C	T	ALS2	c.2712G>A	NM_020919.4	NP_065970.2:p.(Thr904=)	NC_000002.11:g.202593775C>T	VUS	2 labs	712045ce3a
5:89943547 ADGRV1 T>C	5	89943547	89943547	T	C	ADGRV1	c.3255T>C	NM_032119.4	NP_115495.3:p.(Asp1085=)	NC_000005.9:g.89943547T>C	(Likely) benign	3 labs	7128ba2100
16:88494603 ZNF469 G>T	16	88494603	88494603	G	T	ZNF469	c.725G>T	NM_001367624.2	NP_001354553.1:p.(Ser242Ile)	NC_000016.9:g.88494603G>T	(Likely) benign	2 labs	71291e704b
2:179439514 TTN A>G	2	179439514	179439514	A	G	TTN	c.71345T>C	NM_001267550.2	NP_001254479.2:p.(Ile23782Thr)	NC_000002.11:g.179439514A>G	VUS	2 labs	712cdc82b6
2:179398832 TTN C>T	2	179398832	179398832	C	T	TTN	c.102510G>A	NM_001267550.2	NP_001254479.2:p.(Trp34170Ter)	NC_000002.11:g.179398832C>T	(Likely) pathogenic	2 labs	7130d0aa6b
13:32969073 BRCA2 A>T	13	32969073	32969073	A	T	BRCA2	c.9501+3A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32969073A>T	(Likely) benign	7 labs	713e862497
9:139407830 NOTCH1 C>T	9	139407830	139407830	C	T	NOTCH1	c.2353+14G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407830C>T	(Likely) benign	2 labs	713d1119a9
10:18795447 CACNB2 G>C	10	18795447	18795447	G	C	CACNB2	c.476G>C	NM_000724.4	NP_000715.2:p.(Ser159Thr)	NC_000010.10:g.18795447G>C	(Likely) benign	2 labs	713df06e09
4:123664333 BBS12 G>C	4	123664333	123664333	G	C	BBS12	c.1286G>C	NM_001178007.2	NP_001171478.1:p.(Ser429Thr)	NC_000004.11:g.123664333G>C	(Likely) benign	3 labs	7148b70362
21:47545241 COL6A2 CG>C	21	47545241	47545243	CG	C	COL6A2	c.1816+18del	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47545243del	(Likely) benign	2 labs	715a013f7a
12:48376306 COL2A1 G>A	12	48376306	48376306	G	A	COL2A1	c.2280C>T	NM_001844.5	NP_001835.3:p.(Ile760=)	NC_000012.11:g.48376306G>A	(Likely) benign	2 labs	715baf23cc
19:41209674 COQ8B C>T	19	41209674	41209674	C	T	COQ8B	c.663G>A	NM_024876.4	NP_079152.3:p.(Gly221=)	NC_000019.9:g.41209674C>T	(Likely) benign	2 labs	715f6e0b41
X:153296516 MECP2 G>A	X	153296516	153296516	G	A	MECP2	c.484C>T	NM_001369391.2	NP_001356320.1:p.(Arg162Ter)	NC_000023.10:g.153296516G>A	(Likely) pathogenic	3 labs	7164c7b0d6
2:179414949 TTN TTAA>T	2	179414949	179414956	TTAA	T	TTN	c.91613_91615del	NM_001267550.2	NP_001254479.2:p.(Ile30538del)	NC_000002.11:g.179414954_179414956del	VUS	2 labs	716d43d535
19:11224355 LDLR G>A	19	11224355	11224355	G	A	LDLR	c.1503G>A	NM_000527.5	NP_000518.1:p.(Ala501=)	NC_000019.9:g.11224355G>A	(Likely) benign	2 labs	71755d2411
4:126412891 FAT4 C>T	4	126412891	126412891	C	T	FAT4	c.14920C>T	NM_001291303.3	NP_001278232.1:p.(Pro4974Ser)	NC_000004.11:g.126412891C>T	(Likely) benign	2 labs	717694ae30
9:134387488 POMT1 T>C	9	134387488	134387488	T	C	POMT1	c.1047T>C	NM_001136113.2	NP_001129585.1:p.(Asp349=)	NC_000009.11:g.134387488T>C	(Likely) benign	3 labs	71771b5643
14:23899073 MYH7 T>C	14	23899073	23899073	T	C	MYH7	c.1049A>G	NM_000257.4	NP_000248.2:p.(Tyr350Cys)	NC_000014.8:g.23899073T>C	VUS	2 labs	717ed244c2
11:66335832 CTSF G>A	11	66335832	66335832	G	A	CTSF	c.126C>T	NM_003793.4	NP_003784.2:p.(Pro42=)	NC_000011.9:g.66335832G>A	(Likely) benign	2 labs	71837e71cf
9:101891159 TGFBR1 C>T	9	101891159	101891159	C	T	TGFBR1	c.120C>T	NM_004612.4	NP_004603.1:p.(Leu40=)	NC_000009.11:g.101891159C>T	(Likely) benign	4 labs	71858c4298
2:179430198 TTN G>A	2	179430198	179430198	G	A	TTN	c.80661C>T	NM_001267550.2	NP_001254479.2:p.(Asn26887=)	NC_000002.11:g.179430198G>A	(Likely) benign	2 labs	71898bcc81
5:127609633 FBN2 G>A	5	127609633	127609633	G	A	FBN2	c.7739C>T	NM_001999.4	NP_001990.2:p.(Ser2580Leu)	NC_000005.9:g.127609633G>A	(Likely) benign	2 labs	7192f04f01
2:179647537 TTN C>A	2	179647537	179647537	C	A	TTN	c.3096G>T	NM_001267550.2	NP_001254479.2:p.(Val1032=)	NC_000002.11:g.179647537C>A	(Likely) benign	3 labs	7194d6f776
20:10394096 MKKS T>C	20	10394096	10394096	T	C	MKKS	c.67A>G	NM_018848.3	NP_061336.1:p.(Arg23Gly)	NC_000020.10:g.10394096T>C	(Likely) benign	3 labs	7199f40edc
5:127597535 FBN2 C>T	5	127597535	127597535	C	T	FBN2	c.8257G>A	NM_001999.4	NP_001990.2:p.(Glu2753Lys)	NC_000005.9:g.127597535C>T	(Likely) benign	3 labs	71a0ff2e43
X:32503094 DMD T>G	X	32503094	32503094	T	G	DMD	c.2376A>C	NM_004010.3	NP_004001.1:p.(Thr792=)	NC_000023.10:g.32503094T>G	(Likely) benign	2 labs	71aa81ff21
14:88442712 GALC C>T	14	88442712	88442712	C	T	GALC	c.742G>A	NM_000153.4	NP_000144.2:p.(Asp248Asn)	NC_000014.8:g.88442712C>T	(Likely) benign	2 labs	71abfb97db
12:121176971 ACADS C>T	12	121176971	121176971	C	T	ACADS	c.1058C>T	NM_000017.4	NP_000008.1:p.(Ser353Leu)	NC_000012.11:g.121176971C>T	(Likely) pathogenic	2 labs	71b1cf4d54
2:189871110 COL3A1 G>A	2	189871110	189871110	G	A	COL3A1	c.3133G>A	NM_000090.4	NP_000081.2:p.(Ala1045Thr)	NC_000002.11:g.189871110G>A	(Likely) benign	3 labs	71b25fb742
17:42426587 GRN C>T	17	42426587	42426587	C	T	GRN	c.55C>T	NM_002087.4	NP_002078.1:p.(Arg19Trp)	NC_000017.10:g.42426587C>T	(Likely) benign	3 labs	71ca7884f4
11:88961065 TYR A>T	11	88961065	88961065	A	T	TYR	c.1111A>T	NM_000372.5	NP_000363.1:p.(Asn371Tyr)	NC_000011.9:g.88961065A>T	(Likely) pathogenic	2 labs	71ddbd0b84
6:152671475 SYNE1 A>C	6	152671475	152671475	A	C	SYNE1	c.11734-5T>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152671475A>C	(Likely) benign	3 labs	71e8269a3c
11:110150486 RDX TA>T	11	110150486	110150498	TA	T	RDX	c.-64-6del	NM_002906.4	NP_002897.1:p.?	NC_000011.9:g.110150498del	(Likely) benign	2 labs	71efdde539
1:235907279 LYST A>G	1	235907279	235907279	A	G	LYST	c.8151T>C	NM_001301365.1	NP_001288294.1:p.(Ile2717=)	NC_000001.10:g.235907279A>G	(Likely) benign	2 labs	71f10fba88
11:47368582 MYBPC3 T>C	11	47368582	47368582	T	C	MYBPC3	c.906-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368582T>C	VUS	2 labs	71f3512e39
20:57016076 VAPB G>A	20	57016076	57016076	G	A	VAPB	c.510G>A	NM_004738.5	NP_004729.1:p.(Met170Ile)	NC_000020.10:g.57016076G>A	(Likely) benign	4 labs	7203dfc428
16:57945674 CNGB1 G>A	16	57945674	57945674	G	A	CNGB1	c.2475C>T	NM_001297.5	NP_001288.3:p.(Tyr825=)	NC_000016.9:g.57945674G>A	(Likely) benign	2 labs	720484c7a4
14:102515026 DYNC1H1 C>T	14	102515026	102515026	C	T	DYNC1H1	c.13372+20C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102515026C>T	(Likely) benign	2 labs	720553f866
13:32913420 BRCA2 T>C	13	32913420	32913420	T	C	BRCA2	c.4928T>C	NM_000059.4	NP_000050.3:p.(Val1643Ala)	NC_000013.10:g.32913420T>C	(Likely) benign	2 labs	720641c90c
2:47205921 TTC7A C>T	2	47205921	47205921	C	T	TTC7A	c.649-10C>T	NM_020458.4	NP_065191.2:p.?	NC_000002.11:g.47205921C>T	(Likely) benign	3 labs	72083c2dfd
2:179435964 TTN T>G	2	179435964	179435964	T	G	TTN	c.74895A>C	NM_001267550.2	NP_001254479.2:p.(Gln24965His)	NC_000002.11:g.179435964T>G	(Likely) benign	5 labs	720a950d1b
11:12785818 TEAD1 C>T	11	12785818	12785818	C	T	TEAD1	c.39C>T	NM_021961.6	NP_068780.2:p.(Ala13=)	NC_000011.9:g.12785818C>T	(Likely) benign	2 labs	72223e69b1
3:30713737 TGFBR2 C>T	3	30713737	30713737	C	T	TGFBR2	c.1137C>T	NM_001024847.2	NP_001020018.1:p.(Leu379=)	NC_000003.11:g.30713737C>T	(Likely) benign	3 labs	7223f9c7da
6:56341148 DST CAG>C	6	56341148	56341151	CAG	C	DST	c.15319-15_15319-14del	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56341150_56341151del	(Likely) benign	2 labs	72254510e0
10:13164492 OPTN G>C	10	13164492	13164492	G	C	OPTN	c.882+5G>C	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13164492G>C	VUS	2 labs	7229893cf4
9:27047373 IFT74 A>G	9	27047373	27047373	A	G	IFT74	c.1206+4A>G	NM_001349928.2	NP_001336857.1:p.?	NC_000009.11:g.27047373A>G	VUS	2 labs	7229a3263c
20:10389259 MKKS CA>C	20	10389259	10389262	CA	C	MKKS	c.1161+16del	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10389262del	(Likely) benign	2 labs	7231ceba7e
5:79950708 MSH3 T>C	5	79950708	79950708	T	C	MSH3	c.162T>C	NM_002439.5	NP_002430.3:p.(Ala54=)	NC_000005.9:g.79950708T>C	(Likely) benign	3 labs	7241b3107e
17:41245577 BRCA1 T>C	17	41245577	41245577	T	C	BRCA1	c.1971A>G	NM_007294.4	NP_009225.1:p.(Gln657=)	NC_000017.10:g.41245577T>C	(Likely) benign	6 labs	7247b50220
3:53769521 CACNA1D C>T	3	53769521	53769521	C	T	CACNA1D	c.2802C>T	NM_000720.4	NP_000711.1:p.(Phe934=)	NC_000003.11:g.53769521C>T	(Likely) benign	2 labs	72518016b6
6:32049423 TNXB C>T	6	32049423	32049423	C	T	TNXB	c.3764G>A	NM_019105.8	NP_061978.6:p.(Arg1255His)	NC_000006.11:g.32049423C>T	(Likely) benign	2 labs	726cd2ea6c
11:77813997 ALG8 CAA>C	11	77813997	77814015	CAA	C	ALG8	c.1350-5_1350-4del	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77814014_77814015del	(Likely) benign	2 labs	726d176e0a
12:33031837 PKP2 A>C	12	33031837	33031837	A	C	PKP2	c.336+17T>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031837A>C	(Likely) benign	2 labs	726e4165d2
X:153587375 FLNA T>C	X	153587375	153587375	T	C	FLNA	c.4451A>G	NM_001110556.2	NP_001104026.1:p.(Gln1484Arg)	NC_000023.10:g.153587375T>C	(Likely) benign	5 labs	728002bf5d
6:49423956 MMUT TA>T	6	49423956	49423967	TA	T	MMUT	c.754-7del	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49423967del	(Likely) benign	2 labs	72835bfde3
11:108150207 ATM CT>C	11	108150207	108150209	CT	C	ATM	c.3285-9del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150209del	(Likely) benign	4 labs	72888ae762
15:34528920 SLC12A6 G>A	15	34528920	34528920	G	A	SLC12A6	c.3031C>T	NM_133647.1	NP_598408.1:p.(Arg1011Ter)	NC_000015.9:g.34528920G>A	(Likely) pathogenic	2 labs	728f64c262
10:48382205 RBP3 G>A	10	48382205	48382205	G	A	RBP3	c.3444C>T	NM_002900.3	NP_002891.1:p.(Ala1148=)	NC_000010.10:g.48382205G>A	(Likely) benign	2 labs	728fac5359
1:237791400 RYR2 C>T	1	237791400	237791400	C	T	RYR2	c.6440+20C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237791400C>T	(Likely) benign	3 labs	729a63c345
4:13462337 RAB28 A>C	4	13462337	13462337	A	C	RAB28	c.377T>G	NM_004249.4	NP_004240.2:p.(Leu126Trp)	NC_000004.11:g.13462337A>C	VUS	2 labs	72a07413f4
5:149301223 PDE6A G>C	5	149301223	149301223	G	C	PDE6A	c.908C>G	NM_000440.3	NP_000431.2:p.(Ser303Cys)	NC_000005.9:g.149301223G>C	(Likely) benign	2 labs	72a254c638
20:57428948 GNAS G>C	20	57428948	57428948	G	C	GNAS	c.441G>C	NM_001077490.3	NP_001070958.1:p.(Arg147Ser)	NC_000020.10:g.57428948G>C	(Likely) benign	2 labs	72b14df226
3:38647422 SCN5A C>T	3	38647422	38647422	C	T	SCN5A	c.1338+20G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647422C>T	(Likely) benign	4 labs	72b860f72a
5:89948305 ADGRV1 A>G	5	89948305	89948305	A	G	ADGRV1	c.3559A>G	NM_032119.4	NP_115495.3:p.(Ile1187Val)	NC_000005.9:g.89948305A>G	(Likely) benign	4 labs	72bc0c2715
11:76910816 MYO7A G>A	11	76910816	76910816	G	A	MYO7A	c.4805G>A	NM_000260.4	NP_000251.3:p.(Arg1602Gln)	NC_000011.9:g.76910816G>A	(Likely) benign	3 labs	72be87cfbc
2:212293119 ERBB4 G>A	2	212293119	212293119	G	A	ERBB4	c.2719+14C>T	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212293119G>A	(Likely) benign	2 labs	72d0975090
14:79454391 NRXN3 T>G	14	79454391	79454391	T	G	NRXN3	c.2050T>G	NM_004796.6	NP_004787.2:p.(Ser684Ala)	NC_000014.8:g.79454391T>G	(Likely) benign	2 labs	72d181a1bc
8:42174380 IKBKB G>A	8	42174380	42174380	G	A	IKBKB	c.1083G>A	NM_001556.3	NP_001547.1:p.(Leu361=)	NC_000008.10:g.42174380G>A	(Likely) benign	2 labs	72e37bd093
16:15818260 MYH11 C>T	16	15818260	15818260	C	T	MYH11	c.4123G>A	NM_002474.3	NP_002465.1:p.(Asp1375Asn)	NC_000016.9:g.15818260C>T	VUS	2 labs	72f1549e99
12:88510918 CEP290 T>C	12	88510918	88510918	T	C	CEP290	c.1716A>G	NM_025114.4	NP_079390.3:p.(Leu572=)	NC_000012.11:g.88510918T>C	(Likely) benign	2 labs	72f60957c8
10:73437234 CDH23 G>A	10	73437234	73437234	G	A	CDH23	c.1536G>A	NM_022124.6	NP_071407.4:p.(Thr512=)	NC_000010.10:g.73437234G>A	(Likely) benign	2 labs	72fd8494f6
9:94830232 SPTLC1 C>G	9	94830232	94830232	C	G	SPTLC1	c.560+16G>C	NM_006415.4	NP_006406.1:p.?	NC_000009.11:g.94830232C>G	(Likely) benign	2 labs	73229a0ea9
18:25564970 CDH2 G>GGAT	18	25564970	25564980	G	GGAT	CDH2	c.2200_2202dup	NM_001792.5	NP_001783.2:p.(Ile734dup)	NC_000018.9:g.25564978_25564980dup	VUS	2 labs	7325a9f4e8
8:145741787 RECQL4 G>A	8	145741787	145741787	G	A	RECQL4	c.716C>T	NM_004260.4	NP_004251.4:p.(Ala239Val)	NC_000008.10:g.145741787G>A	(Likely) benign	3 labs	7314a9b167
19:50771409 MYH14 A>C	19	50771409	50771409	A	C	MYH14	c.2827-9A>C	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50771409A>C	(Likely) benign	2 labs	73246e403d
8:10480544 RP1L1 G>A	8	10480544	10480544	G	A	RP1L1	c.168C>T	NM_178857.6	NP_849188.4:p.(Arg56=)	NC_000008.10:g.10480544G>A	(Likely) benign	2 labs	733a536029
17:39923739 JUP G>A	17	39923739	39923739	G	A	JUP	c.801C>T	NM_002230.4	NP_002221.1:p.(Ala267=)	NC_000017.10:g.39923739G>A	(Likely) benign	2 labs	733b15e88d
7:140624426 BRAF C>A	7	140624426	140624426	C	A	BRAF	c.78G>T	NM_004333.6	NP_004324.2:p.(Glu26Asp)	NC_000007.13:g.140624426C>A	(Likely) benign	3 labs	734425eee2
16:1570624 IFT140 C>T	16	1570624	1570624	C	T	IFT140	c.3639G>A	NM_014714.4	NP_055529.2:p.(Thr1213=)	NC_000016.9:g.1570624C>T	(Likely) benign	2 labs	7349a4c322
3:38743472 SCN10A C>T	3	38743472	38743472	C	T	SCN10A	c.4515G>A	NM_006514.4	NP_006505.4:p.(Thr1505=)	NC_000003.11:g.38743472C>T	(Likely) benign	2 labs	7349fc86fb
10:69366668 CTNNA3 G>A	10	69366668	69366668	G	A	CTNNA3	c.239C>T	NM_013266.4	NP_037398.2:p.(Ala80Val)	NC_000010.10:g.69366668G>A	VUS	2 labs	735271217d
9:130221297 LRSAM1 G>A	9	130221297	130221297	G	A	LRSAM1	c.268G>A	NM_138361.5	NP_612370.3:p.(Asp90Asn)	NC_000009.11:g.130221297G>A	(Likely) benign	2 labs	735ad3757c
9:137715300 COL5A1 A>C	9	137715300	137715300	A	C	COL5A1	c.4683A>C	NM_000093.5	NP_000084.3:p.(Gly1561=)	NC_000009.11:g.137715300A>C	(Likely) benign	3 labs	736fabb865
13:32910842 BRCA2 A>G	13	32910842	32910842	A	G	BRCA2	c.2350A>G	NM_000059.4	NP_000050.3:p.(Met784Val)	NC_000013.10:g.32910842A>G	(Likely) benign	3 labs	7371b25010
14:105241304 AKT1 G>A	14	105241304	105241304	G	A	AKT1	c.604C>T	NM_005163.2	NP_005154.2:p.(Leu202=)	NC_000014.8:g.105241304G>A	(Likely) benign	2 labs	737e027bb4
3:45875738 LZTFL1 T>G	3	45875738	45875738	T	G	LZTFL1	c.325A>C	NM_001276378.2	NP_001263307.1:p.(Asn109His)	NC_000003.11:g.45875738T>G	(Likely) benign	2 labs	737e85e4e6
2:220502516 SLC4A3 C>T	2	220502516	220502516	C	T	SLC4A3	c.2830C>T	NM_001326559.2	NP_001313488.2:p.(Arg944Cys)	NC_000002.11:g.220502516C>T	VUS	2 labs	7388e312ef
6:41126773 TREM2 G>A	6	41126773	41126773	G	A	TREM2	c.514C>T	NM_018965.4	NP_061838.1:p.(Pro172Ser)	NC_000006.11:g.41126773G>A	(Likely) benign	2 labs	739dd54fcf
2:202633670 ALS2 T>C	2	202633670	202633670	T	C	ALS2	c.-60-2A>G	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202633670T>C	(Likely) pathogenic	3 labs	739f9fdff8
14:23889098 MYH7 G>A	14	23889098	23889098	G	A	MYH7	c.3682C>T	NM_000257.4	NP_000248.2:p.(Leu1228=)	NC_000014.8:g.23889098G>A	(Likely) benign	4 labs	73a2afd612
1:74801807 TNNI3K T>C	1	74801807	74801807	T	C	TNNI3K	c.656T>C	NM_015978.3	NP_057062.1:p.(Leu219Ser)	NC_000001.10:g.74801807T>C	(Likely) benign	2 labs	73a45e13a2
6:112382301 CCN6 C>A	6	112382301	112382301	C	A	CCN6	c.156C>A	NM_198239.2	NP_937882.2:p.(Cys52Ter)	NC_000006.11:g.112382301C>A	(Likely) pathogenic	2 labs	73adf48251
6:73001685 RIMS1 G>A	6	73001685	73001685	G	A	RIMS1	c.3786G>A	NM_014989.6	NP_055804.2:p.(Ser1262=)	NC_000006.11:g.73001685G>A	(Likely) benign	2 labs	73bc6815a5
2:179566962 TTN C>T	2	179566962	179566962	C	T	TTN	c.30444G>A	NM_001267550.2	NP_001254479.2:p.(Ser10148=)	NC_000002.11:g.179566962C>T	(Likely) benign	4 labs	73c349fc79
5:138286956 SIL1 C>T	5	138286956	138286956	C	T	SIL1	c.933G>A	NM_001037633.2	NP_001032722.1:p.(Gly311=)	NC_000005.9:g.138286956C>T	(Likely) benign	2 labs	73c3fa9755
8:10466946 RP1L1 G>C	8	10466946	10466946	G	C	RP1L1	c.4662C>G	NM_178857.6	NP_849188.4:p.(Asp1554Glu)	NC_000008.10:g.10466946G>C	(Likely) benign	2 labs	73c462a775
4:114278258 ANK2 T>C	4	114278258	114278258	T	C	ANK2	c.8625T>C	NM_001386174.1	NP_001373103.1:p.(Asp2875=)	NC_000004.11:g.114278258T>C	(Likely) benign	2 labs	73ceaa526d
7:33192288 BBS9 CT>C	7	33192288	33192299	CT	C	BBS9	c.113-14del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33192299del	(Likely) benign	2 labs	73ed4f39e1
17:4910568 KIF1C A>G	17	4910568	4910568	A	G	KIF1C	c.1346A>G	NM_006612.6	NP_006603.2:p.(Lys449Arg)	NC_000017.10:g.4910568A>G	VUS	2 labs	73fe3a5f89
2:152473986 NEB C>A	2	152473986	152473986	C	A	NEB	c.11077-4G>T	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152473986C>A	(Likely) benign	3 labs	7402561a6e
1:201341303 TNNT2 C>T	1	201341303	201341303	C	T	TNNT2	c.42-20G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201341303C>T	(Likely) benign	4 labs	740796553e
18:47405425 MYO5B T>TGAG	18	47405425	47405428	T	TGAG	MYO5B	c.3163_3165dup	NM_001080467.3	NP_001073936.1:p.(Leu1055dup)	NC_000018.9:g.47405426_47405428dup	(Likely) benign	2 labs	74093e07b9
2:48027169 MSH6 G>GCT	2	48027169	48027173	G	GCT	MSH6	c.2050_2051dup	NM_000179.3	NP_000170.1:p.(Gly685Ter)	NC_000002.11:g.48027172_48027173dup	(Likely) pathogenic	3 labs	7419faf60d
13:32912060 BRCA2 C>T	13	32912060	32912060	C	T	BRCA2	c.3568C>T	NM_000059.4	NP_000050.3:p.(Arg1190Trp)	NC_000013.10:g.32912060C>T	(Likely) benign	3 labs	741a9da73f
X:18622376 CDKL5 C>T	X	18622376	18622376	C	T	CDKL5	c.1332C>T	NM_003159.3	NP_003150.1:p.(Arg444=)	NC_000023.10:g.18622376C>T	(Likely) benign	3 labs	741b9e2b38
19:10265593 DNMT1 G>T	19	10265593	10265593	G	T	DNMT1	c.1632C>A	NM_001130823.3	NP_001124295.1:p.(Ile544=)	NC_000019.9:g.10265593G>T	(Likely) benign	3 labs	742640eff7
19:38997609 RYR1 T>A	19	38997609	38997609	T	A	RYR1	c.8816+17T>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38997609T>A	(Likely) benign	2 labs	7430c78263
1:116311022 CASQ2 C>G	1	116311022	116311022	C	G	CASQ2	c.141G>C	NM_001232.4	NP_001223.2:p.(Lys47Asn)	NC_000001.10:g.116311022C>G	VUS	3 labs	7438f8d617
15:44865888 SPG11 C>T	15	44865888	44865888	C	T	SPG11	c.6062G>A	NM_025137.4	NP_079413.3:p.(Arg2021Gln)	NC_000015.9:g.44865888C>T	VUS	2 labs	743e41674b
8:30989995 WRN G>C	8	30989995	30989995	G	C	WRN	c.2940G>C	NM_000553.6	NP_000544.2:p.(Gly980=)	NC_000008.10:g.30989995G>C	(Likely) benign	2 labs	744541ce42
16:16263594 ABCC6 C>T	16	16263594	16263594	C	T	ABCC6	c.2904G>A	NM_001171.6	NP_001162.5:p.(Leu968=)	NC_000016.9:g.16263594C>T	(Likely) benign	2 labs	7452b8b3a0
14:23902311 MYH7 G>A	14	23902311	23902311	G	A	MYH7	c.327C>T	NM_000257.4	NP_000248.2:p.(Tyr109=)	NC_000014.8:g.23902311G>A	(Likely) benign	2 labs	745ff8241b
2:169820760 ABCB11 A>G	2	169820760	169820760	A	G	ABCB11	c.2134T>C	NM_003742.4	NP_003733.2:p.(Leu712=)	NC_000002.11:g.169820760A>G	(Likely) benign	3 labs	7463abdfe3
3:38962699 SCN11A C>A	3	38962699	38962699	C	A	SCN11A	c.760G>T	NM_001349253.2	NP_001336182.1:p.(Val254Phe)	NC_000003.11:g.38962699C>A	(Likely) benign	2 labs	746653b372
1:193091363 CDC73 C>T	1	193091363	193091363	C	T	CDC73	c.33C>T	NM_024529.5	NP_078805.3:p.(Tyr11=)	NC_000001.10:g.193091363C>T	(Likely) benign	3 labs	746abf1c98
4:151505135 MAB21L2 C>T	4	151505135	151505135	C	T	MAB21L2	c.954C>T	NM_006439.5	NP_006430.1:p.(His318=)	NC_000004.11:g.151505135C>T	(Likely) benign	3 labs	746c02fb10
10:75834538 VCL C>T	10	75834538	75834538	C	T	VCL	c.660C>T	NM_014000.3	NP_054706.1:p.(Asn220=)	NC_000010.10:g.75834538C>T	(Likely) benign	3 labs	746cc9fe6d
6:7578691 DSP T>A	6	7578691	7578691	T	A	DSP	c.2986-6T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578691T>A	(Likely) benign	2 labs	747a719a7b
2:179499352 TTN G>A	2	179499352	179499352	G	A	TTN	c.42156C>T	NM_001267550.2	NP_001254479.2:p.(Ile14052=)	NC_000002.11:g.179499352G>A	(Likely) benign	3 labs	74886b31d9
15:48779402 FBN1 C>T	15	48779402	48779402	C	T	FBN1	c.3464-5G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779402C>T	(Likely) benign	2 labs	748aa7fbf2
3:38766701 SCN10A C>T	3	38766701	38766701	C	T	SCN10A	c.3192G>A	NM_006514.4	NP_006505.4:p.(Thr1064=)	NC_000003.11:g.38766701C>T	(Likely) benign	2 labs	74911bfc57
2:48028282 MSH6 A>T	2	48028282	48028282	A	T	MSH6	c.3160A>T	NM_000179.3	NP_000170.1:p.(Ile1054Phe)	NC_000002.11:g.48028282A>T	(Likely) benign	2 labs	7491a574b1
1:215824023 USH2A C>G	1	215824023	215824023	C	G	USH2A	c.14254G>C	NM_206933.4	NP_996816.3:p.(Val4752Leu)	NC_000001.10:g.215824023C>G	VUS	2 labs	749a9ff2f6
3:101370529 ZBTB11 T>TA	3	101370529	101370547	T	TA	ZBTB11	c.2645-3dup	NM_014415.4	NP_055230.2:p.?	NC_000003.11:g.101370547dup	(Likely) benign	2 labs	74a931d736
8:24810345 NEFL T>C	8	24810345	24810345	T	C	NEFL	c.1610A>G	NM_006158.5	NP_006149.2:p.(Gln537Arg)	NC_000008.10:g.24810345T>C	(Likely) benign	2 labs	74a46b39c7
X:133620474 HPRT1 GT>G	X	133620474	133620488	GT	G	HPRT1	c.319-7del	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133620488del	(Likely) benign	2 labs	74b7f2a0d7
1:201333441 TNNT2 C>G	1	201333441	201333441	C	G	TNNT2	c.444G>C	NM_001276347.2	NP_001263276.1:p.(Arg148=)	NC_000001.10:g.201333441C>G	(Likely) benign	4 labs	74afc8fe01
15:85370708 ALPK3 C>T	15	85370708	85370708	C	T	ALPK3	c.183-7C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85370708C>T	(Likely) benign	2 labs	74be89a57d
2:179605180 TTN C>T	2	179605180	179605180	C	T	TTN	c.12780G>A	NM_001267550.2	NP_001254479.2:p.(Ala4260=)	NC_000002.11:g.179605180C>T	(Likely) benign	4 labs	74c2f94015
15:44858098 SPG11 C>T	15	44858098	44858098	C	T	SPG11	c.6953G>A	NM_025137.4	NP_079413.3:p.(Arg2318His)	NC_000015.9:g.44858098C>T	(Likely) benign	2 labs	74c5bc9108
2:179567188 TTN G>A	2	179567188	179567188	G	A	TTN	c.30426C>T	NM_001267550.2	NP_001254479.2:p.(Asp10142=)	NC_000002.11:g.179567188G>A	(Likely) benign	3 labs	74d51574e7
11:47364259 MYBPC3 G>C	11	47364259	47364259	G	C	MYBPC3	c.1494C>G	NM_000256.3	NP_000247.2:p.(Thr498=)	NC_000011.9:g.47364259G>C	(Likely) benign	3 labs	74d77402d4
5:89953772 ADGRV1 A>G	5	89953772	89953772	A	G	ADGRV1	c.4429A>G	NM_032119.4	NP_115495.3:p.(Thr1477Ala)	NC_000005.9:g.89953772A>G	VUS	2 labs	74d91bffcd
8:42995747 HGSNAT G>A	8	42995747	42995747	G	A	HGSNAT	c.108G>A	NM_152419.3	NP_689632.2:p.(Ala36=)	NC_000008.10:g.42995747G>A	(Likely) benign	2 labs	74dba1ddee
X:32663135 DMD T>G	X	32663135	32663135	T	G	DMD	c.726A>C	NM_004010.3	NP_004001.1:p.(Gln242His)	NC_000023.10:g.32663135T>G	(Likely) benign	3 labs	74dbc587a8
17:78179408 CARD14 G>A	17	78179408	78179408	G	A	CARD14	c.2648G>A	NM_024110.4	NP_077015.2:p.(Arg883His)	NC_000017.10:g.78179408G>A	(Likely) benign	3 labs	74e4c56bb0
7:91674405 AKAP9 T>C	7	91674405	91674405	T	C	AKAP9	c.5246T>C	NM_005751.5	NP_005742.4:p.(Ile1749Thr)	NC_000007.13:g.91674405T>C	(Likely) benign	3 labs	74f7d46057
12:124402341 DNAH10 C>T	12	124402341	124402341	C	T	DNAH10	c.10859C>T	NM_207437.3	NP_997320.2:p.(Thr3620Ile)	NC_000012.11:g.124402341C>T	(Likely) benign	2 labs	75009a2a2d
6:70981786 COL9A1 A>G	6	70981786	70981786	A	G	COL9A1	c.1071T>C	NM_001851.6	NP_001842.3:p.(Arg357=)	NC_000006.11:g.70981786A>G	(Likely) benign	3 labs	750a50e1b5
14:105241399 AKT1 C>T	14	105241399	105241399	C	T	AKT1	c.567+14G>A	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105241399C>T	(Likely) benign	2 labs	751573d687
19:35530525 SCN1B C>A	19	35530525	35530525	C	A	SCN1B	c.591-14C>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530525C>A	(Likely) benign	3 labs	751cbaf489
5:90119358 ADGRV1 C>T	5	90119358	90119358	C	T	ADGRV1	c.16313C>T	NM_032119.4	NP_115495.3:p.(Thr5438Ile)	NC_000005.9:g.90119358C>T	(Likely) benign	2 labs	75283c1f29
2:73678183 ALMS1 G>A	2	73678183	73678183	G	A	ALMS1	c.4532G>A	NM_015120.4	NP_055935.4:p.(Gly1511Asp)	NC_000002.11:g.73678183G>A	(Likely) benign	2 labs	752a801e30
16:15811131 MYH11 G>A	16	15811131	15811131	G	A	MYH11	c.5391C>T	NM_001040113.2	NP_001035202.1:p.(Leu1797=)	NC_000016.9:g.15811131G>A	(Likely) benign	2 labs	7531b60ff6
1:94495104 ABCA4 C>T	1	94495104	94495104	C	T	ABCA4	c.4436G>A	NM_000350.3	NP_000341.2:p.(Trp1479Ter)	NC_000001.10:g.94495104C>T	(Likely) pathogenic	2 labs	7550d44e76
20:57599527 TUBB1 G>A	20	57599527	57599527	G	A	TUBB1	c.1045G>A	NM_030773.4	NP_110400.1:p.(Val349Ile)	NC_000020.10:g.57599527G>A	(Likely) benign	2 labs	75519fae9f
2:179427962 TTN CTG>C	2	179427962	179427966	CTG	C	TTN	c.82895_82896del	NM_001267550.2	NP_001254479.2:p.(Thr27632SerfsTer5)	NC_000002.11:g.179427965_179427966del	(Likely) pathogenic	2 labs	755ce81a1e
11:108099898 ATM C>T	11	108099898	108099898	C	T	ATM	c.186-7C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108099898C>T	(Likely) benign	6 labs	75535e4fdc
1:45294084 PTCH2 C>T	1	45294084	45294084	C	T	PTCH2	c.1593G>A	NM_003738.5	NP_003729.3:p.(Ala531=)	NC_000001.10:g.45294084C>T	(Likely) benign	2 labs	75536da703
7:81601108 CACNA2D1 C>T	7	81601108	81601108	C	T	CACNA2D1	c.2126G>A	NM_000722.4	NP_000713.2:p.(Ser709Asn)	NC_000007.13:g.81601108C>T	(Likely) benign	4 labs	7559e83016
7:128486446 FLNC C>T	7	128486446	128486446	C	T	FLNC	c.4056C>T	NM_001458.5	NP_001449.3:p.(Arg1352=)	NC_000007.13:g.128486446C>T	(Likely) benign	2 labs	75612d4c94
2:179579212 TTN T>C	2	179579212	179579212	T	C	TTN	c.26289A>G	NM_001267550.2	NP_001254479.2:p.(Glu8763=)	NC_000002.11:g.179579212T>C	(Likely) benign	2 labs	7588374de6
1:227152907 COQ8A C>T	1	227152907	227152907	C	T	COQ8A	c.384C>T	NM_020247.5	NP_064632.2:p.(Ala128=)	NC_000001.10:g.227152907C>T	(Likely) benign	4 labs	7593bb032c
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537378	C	CCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.892_915dup	NM_004993.6	NP_004984.2:p.(Gln298_Gln305dup)	NC_000014.8:g.92537355_92537378dup	(Likely) benign	3 labs	75963733fe
15:48826356 FBN1 A>G	15	48826356	48826356	A	G	FBN1	c.783T>C	NM_000138.5	NP_000129.3:p.(Asn261=)	NC_000015.9:g.48826356A>G	(Likely) benign	2 labs	75ab0157e1
19:33167534 RGS9BP C>G	19	33167534	33167534	C	G	RGS9BP	c.365C>G	NM_207391.3	NP_997274.2:p.(Ser122Cys)	NC_000019.9:g.33167534C>G	VUS	2 labs	75c052c5fc
2:176802236 LNPK C>G	2	176802236	176802236	C	G	LNPK	c.983G>C	NM_001305009.1	NP_001291938.1:p.(Arg328Pro)	NC_000002.11:g.176802236C>G	VUS	2 labs	75c2b7fff2
4:120107108 MYOZ2 T>A	4	120107108	120107108	T	A	MYOZ2	c.561-13T>A	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120107108T>A	(Likely) benign	2 labs	75d5d7f235
15:34546766 SLC12A6 T>C	15	34546766	34546766	T	C	SLC12A6	c.874A>G	NM_001042496.2	NP_001035961.1:p.(Ile292Val)	NC_000015.9:g.34546766T>C	VUS	3 labs	75d7737c2d
16:15931991 MYH11 G>A	16	15931991	15931991	G	A	MYH11	c.119C>T	NM_002474.3	NP_002465.1:p.(Ser40Leu)	NC_000016.9:g.15931991G>A	VUS	2 labs	75f39735bd
8:145737770 RECQL4 C>T	8	145737770	145737770	C	T	RECQL4	c.3055+5G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737770C>T	VUS	2 labs	760323078a
12:48375616 COL2A1 C>T	12	48375616	48375616	C	T	COL2A1	c.2356-4G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375616C>T	(Likely) benign	2 labs	7604358e66
9:134382804 POMT1 C>G	9	134382804	134382804	C	G	POMT1	c.330C>G	NM_001136113.2	NP_001129585.1:p.(Leu110=)	NC_000009.11:g.134382804C>G	(Likely) benign	3 labs	761c0932f4
2:179481436 TTN AT>A	2	179481436	179481437	AT	A	TTN	c.48160+19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481437del	(Likely) benign	2 labs	7620f6cf86
6:7585686 DSP T>C	6	7585686	7585686	T	C	DSP	c.8191T>C	NM_004415.4	NP_004406.2:p.(Tyr2731His)	NC_000006.11:g.7585686T>C	(Likely) benign	4 labs	762f72986f
X:118604030 SLC25A5 T>C	X	118604030	118604030	T	C	SLC25A5	c.518T>C	NM_001152.5	NP_001143.2:p.(Leu173Pro)	NC_000023.10:g.118604030T>C	(Likely) benign	2 labs	76306a60a1
14:88459467 GALC C>G	14	88459467	88459467	C	G	GALC	c.42G>C	NM_000153.4	NP_000144.2:p.(Ala14=)	NC_000014.8:g.88459467C>G	(Likely) benign	2 labs	763fa5ed84
9:137711997 COL5A1 G>A	9	137711997	137711997	G	A	COL5A1	c.4482G>A	NM_000093.5	NP_000084.3:p.(Pro1494=)	NC_000009.11:g.137711997G>A	(Likely) benign	3 labs	76478c7f95
16:2096384 NTHL1 G>A	16	2096384	2096384	G	A	NTHL1	c.116-17C>T	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2096384G>A	(Likely) benign	2 labs	764b55282e
2:44100948 ABCG8 C>T	2	44100948	44100948	C	T	ABCG8	c.1234C>T	NM_022437.3	NP_071882.1:p.(Arg412Ter)	NC_000002.11:g.44100948C>T	(Likely) pathogenic	2 labs	764e642c40
14:23855655 MYH6 G>A	14	23855655	23855655	G	A	MYH6	c.4828C>T	NM_002471.4	NP_002462.2:p.(Arg1610Cys)	NC_000014.8:g.23855655G>A	VUS	2 labs	7652874ab1
22:29099495 CHEK2 T>G	22	29099495	29099495	T	G	CHEK2	c.906A>C	NM_007194.4	NP_009125.1:p.(Glu302Asp)	NC_000022.10:g.29099495T>G	VUS	3 labs	76538a2d8a
17:79503165 FSCN2 C>T	17	79503165	79503165	C	T	FSCN2	c.984-7C>T	NM_001077182.3	NP_001070650.1:p.?	NC_000017.10:g.79503165C>T	(Likely) benign	2 labs	765f7596fe
7:91708470 AKAP9 G>A	7	91708470	91708470	G	A	AKAP9	c.7023G>A	NM_005751.5	NP_005742.4:p.(Val2341=)	NC_000007.13:g.91708470G>A	(Likely) benign	2 labs	76761a1d0e
5:149449420 CSF1R G>A	5	149449420	149449420	G	A	CSF1R	c.1510+16C>T	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149449420G>A	(Likely) benign	2 labs	7690c5765b
19:47111743 CALM3 C>T	19	47111743	47111743	C	T	CALM3	c.183C>T	NM_005184.4	NP_005175.2:p.(Asn61=)	NC_000019.9:g.47111743C>T	(Likely) benign	3 labs	76a3b3f0ad
15:45895367 BLOC1S6 G>T	15	45895367	45895367	G	T	BLOC1S6	c.294G>T	NM_012388.4	NP_036520.1:p.(Met98Ile)	NC_000015.9:g.45895367G>T	(Likely) benign	2 labs	76a57efd0c
2:179632879 TTN C>T	2	179632879	179632879	C	T	TTN	c.9167G>A	NM_133378.4	NP_596869.4:p.(Arg3056His)	NC_000002.11:g.179632879C>T	VUS	2 labs	76aae338f6
14:39784004 MIA2 GTA>G	14	39784004	39784015	GTA	G	MIA2	c.1371+11_1371+12del	NM_001247989.2	NP_001234918.1:p.?	NC_000014.8:g.39784014_39784015del	(Likely) benign	2 labs	76abc551c5
1:1414038 ATAD3B C>T	1	1414038	1414038	C	T	ATAD3B	c.297C>T	NM_031921.6	NP_114127.3:p.(Ala99=)	NC_000001.10:g.1414038C>T	(Likely) benign	2 labs	76c65303e4
5:82838056 VCAN G>A	5	82838056	82838056	G	A	VCAN	c.9234G>A	NM_004385.5	NP_004376.2:p.(Glu3078=)	NC_000005.9:g.82838056G>A	(Likely) benign	2 labs	76d5041a33
16:1570721 IFT140 G>A	16	1570721	1570721	G	A	IFT140	c.3542C>T	NM_014714.4	NP_055529.2:p.(Ser1181Leu)	NC_000016.9:g.1570721G>A	VUS	3 labs	76da89c4ea
8:68092106 CSPP1 T>C	8	68092106	68092106	T	C	CSPP1	c.3165T>C	NM_001382391.1	NP_001369320.1:p.(Asp1055=)	NC_000008.10:g.68092106T>C	(Likely) benign	3 labs	76e18d834f
4:123663425 BBS12 G>T	4	123663425	123663425	G	T	BBS12	c.378G>T	NM_152618.3	NP_689831.2:p.(Glu126Asp)	NC_000004.11:g.123663425G>T	(Likely) benign	2 labs	76e432bbb2
2:179540636 TTN G>T	2	179540636	179540636	G	T	TTN	c.34453+12C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179540636G>T	(Likely) benign	2 labs	76e6aff904
5:77396767 AP3B1 C>G	5	77396767	77396767	C	G	AP3B1	c.2323+10G>C	NM_001271769.2	NP_001258698.1:p.?	NC_000005.9:g.77396767C>G	(Likely) benign	2 labs	76e89950bf
17:41223165 BRCA1 C>T	17	41223165	41223165	C	T	BRCA1	c.4766G>A	NM_007294.4	NP_009225.1:p.(Arg1589His)	NC_000017.10:g.41223165C>T	(Likely) benign	2 labs	76eb1cde73
11:47364536 MYBPC3 TC>T	11	47364536	47364540	TC	T	MYBPC3	c.1351+35del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364540del	(Likely) benign	2 labs	76ef723994
10:100183430 HPS1 C>G	10	100183430	100183430	C	G	HPS1	c.1533-5G>C	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100183430C>G	(Likely) benign	2 labs	76f05e75e0
17:78184393 SGSH C>T	17	78184393	78184393	C	T	SGSH	c.1367G>A	NM_000199.5	NP_000190.1:p.(Arg456His)	NC_000017.10:g.78184393C>T	(Likely) benign	3 labs	76f1a83304
16:23646594 PALB2 C>T	16	23646594	23646594	C	T	PALB2	c.1273G>A	NM_024675.4	NP_078951.2:p.(Val425Met)	NC_000016.9:g.23646594C>T	(Likely) benign	2 labs	76fae7fb9a
10:112570222 RBM20 T>TGAG	10	112570222	112570226	T	TGAG	RBM20	c.1880+4_1880+6dup	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112570224_112570226dup	(Likely) benign	5 labs	76fbbc8818
3:123419782 MYLK G>A	3	123419782	123419782	G	A	MYLK	c.2533C>T	NM_053025.4	NP_444253.3:p.(Arg845Cys)	NC_000003.11:g.123419782G>A	(Likely) benign	3 labs	7704868467
3:87276714 CHMP2B C>T	3	87276714	87276714	C	T	CHMP2B	c.34+8C>T	NM_014043.4	NP_054762.2:p.?	NC_000003.11:g.87276714C>T	(Likely) benign	3 labs	770aad2f4c
16:2548270 TBC1D24 A>G	16	2548270	2548270	A	G	TBC1D24	c.1015A>G	NM_001199107.2	NP_001186036.1:p.(Asn339Asp)	NC_000016.9:g.2548270A>G	VUS	2 labs	770d77f4bf
7:590247 PRKAR1B T>G	7	590247	590247	T	G	PRKAR1B	c.974-8A>C	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.590247T>G	(Likely) benign	2 labs	770e213d77
11:108186756 ATM C>T	11	108186756	108186756	C	T	ATM	c.6114C>T	NM_000051.4	NP_000042.3:p.(His2038=)	NC_000011.9:g.108186756C>T	(Likely) benign	2 labs	77151a899e
9:740787 KANK1 T>A	9	740787	740787	T	A	KANK1	c.3554-5T>A	NM_001256877.3	NP_001243806.1:p.?	NC_000009.11:g.740787T>A	(Likely) benign	3 labs	7717f4ab81
12:49375343 WNT1 T>G	12	49375343	49375343	T	G	WNT1	c.1033T>G	NM_005430.4	NP_005421.1:p.(Cys345Gly)	NC_000012.11:g.49375343T>G	(Likely) pathogenic	2 labs	771a381607
1:236925794 ACTN2 C>T	1	236925794	236925794	C	T	ACTN2	c.1936C>T	NM_001278344.2	NP_001265273.1:p.(Leu646=)	NC_000001.10:g.236925794C>T	(Likely) benign	3 labs	771e95a335
21:45717534 AIRE C>T	21	45717534	45717534	C	T	AIRE	c.1567-5C>T	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45717534C>T	(Likely) benign	2 labs	7741433e3f
2:179566802 TTN T>TA	2	179566802	179566812	T	TA	TTN	c.30512-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566812dup	(Likely) benign	4 labs	7752a25eb5
5:134364518 PITX1 C>G	5	134364518	134364518	C	G	PITX1	c.896G>C	NM_002653.5	NP_002644.4:p.(Gly299Ala)	NC_000005.9:g.134364518C>G	(Likely) benign	2 labs	775d830149
5:73190312 ARHGEF28 C>T	5	73190312	73190312	C	T	ARHGEF28	c.3753C>T	NM_001080479.3	NP_001073948.2:p.(Asp1251=)	NC_000005.9:g.73190312C>T	(Likely) benign	2 labs	77693726cf
19:47249351 FKRP AGGCCG>A	19	47249351	47249373	AGGCCG	A	FKRP	c.-305+22_-305+26del	NM_001039885.3	NP_001034974.1:p.?	NC_000019.9:g.47249369_47249373del	(Likely) benign	2 labs	7769e26a90
2:73651811 ALMS1 G>C	2	73651811	73651811	G	C	ALMS1	c.1021G>C	NM_015120.4	NP_055935.4:p.(Asp341His)	NC_000002.11:g.73651811G>C	(Likely) benign	2 labs	777ff3807f
12:103310787 PAH G>A	12	103310787	103310787	G	A	PAH	c.60+62C>T	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103310787G>A	(Likely) benign	3 labs	778a0ac2c3
5:89989708 ADGRV1 G>A	5	89989708	89989708	G	A	ADGRV1	c.7135G>A	NM_032119.4	NP_115495.3:p.(Gly2379Arg)	NC_000005.9:g.89989708G>A	VUS	2 labs	77aac9a045
20:42788608 JPH2 G>T	20	42788608	42788608	G	T	JPH2	c.819C>A	NM_020433.5	NP_065166.2:p.(Ala273=)	NC_000020.10:g.42788608G>T	(Likely) benign	2 labs	77ad4538af
X:24073761 EIF2S3 C>T	X	24073761	24073761	C	T	EIF2S3	c.99C>T	NM_001415.4	NP_001406.1:p.(His33=)	NC_000023.10:g.24073761C>T	(Likely) benign	2 labs	77adb760a6
1:156106833 LMNA C>T	1	156106833	156106833	C	T	LMNA	c.1488+14C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106833C>T	(Likely) benign	2 labs	77b08ff2e5
1:216221962 USH2A T>C	1	216221962	216221962	T	C	USH2A	c.6077A>G	NM_206933.4	NP_996816.3:p.(Lys2026Arg)	NC_000001.10:g.216221962T>C	(Likely) benign	2 labs	77b2c4552e
18:19427000 MIB1 A>G	18	19427000	19427000	A	G	MIB1	c.2307A>G	NM_020774.4	NP_065825.1:p.(Arg769=)	NC_000018.9:g.19427000A>G	(Likely) benign	3 labs	77b8b40276
19:38993607 RYR1 C>G	19	38993607	38993607	C	G	RYR1	c.7923C>G	NM_000540.3	NP_000531.2:p.(Leu2641=)	NC_000019.9:g.38993607C>G	(Likely) benign	2 labs	77cff3b69c
3:81548296 GBE1 C>T	3	81548296	81548296	C	T	GBE1	c.2017G>A	NM_000158.4	NP_000149.4:p.(Ala673Thr)	NC_000003.11:g.81548296C>T	(Likely) benign	3 labs	77f461f114
17:6337427 AIPL1 C>T	17	6337427	6337427	C	T	AIPL1	c.97-9G>A	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6337427C>T	(Likely) benign	2 labs	77f758fe94
12:88513989 CEP290 CTTATT>C	12	88513989	88513997	CTTATT	C	CEP290	c.1419_1423del	NM_025114.4	NP_079390.3:p.(Ile474ArgfsTer5)	NC_000012.11:g.88513993_88513997del	(Likely) pathogenic	2 labs	77fd204651
1:236882295 ACTN2 G>C	1	236882295	236882295	G	C	ACTN2	c.343G>C	NM_001103.4	NP_001094.1:p.(Val115Leu)	NC_000001.10:g.236882295G>C	VUS	2 labs	78053b15df
12:21623284 RECQL C>CAAAAAAAA	12	21623284	21623300	C	CAAAAAAAA	RECQL	c.1798-12_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623293_21623300dup	(Likely) benign	2 labs	7808a8e232
11:108175420 ATM C>T	11	108175420	108175420	C	T	ATM	c.5515C>T	NM_000051.4	NP_000042.3:p.(Gln1839Ter)	NC_000011.9:g.108175420C>T	(Likely) pathogenic	3 labs	780e963ac4
15:48703301 FBN1 A>G	15	48703301	48703301	A	G	FBN1	c.8502T>C	NM_000138.5	NP_000129.3:p.(Thr2834=)	NC_000015.9:g.48703301A>G	(Likely) benign	4 labs	781f700186
17:40695200 NAGLU C>T	17	40695200	40695200	C	T	NAGLU	c.1176C>T	NM_000263.4	NP_000254.2:p.(Thr392=)	NC_000017.10:g.40695200C>T	(Likely) benign	2 labs	782f8001c0
8:10467625 RP1L1 T>A	8	10467625	10467625	T	A	RP1L1	c.3983A>T	NM_178857.6	NP_849188.4:p.(Glu1328Val)	NC_000008.10:g.10467625T>A	(Likely) benign	2 labs	78353f6bb9
8:100871569 VPS13B T>C	8	100871569	100871569	T	C	VPS13B	c.10980T>C	NM_017890.5	NP_060360.3:p.(Pro3660=)	NC_000008.10:g.100871569T>C	(Likely) benign	3 labs	7835c7c0a8
4:16008313 PROM1 C>T	4	16008313	16008313	C	T	PROM1	c.1302G>A	NM_006017.3	NP_006008.1:p.(Trp434Ter)	NC_000004.11:g.16008313C>T	(Likely) pathogenic	2 labs	783b86c41a
17:29560021 NF1 C>T	17	29560021	29560021	C	T	NF1	c.3498C>T	NM_001042492.3	NP_001035957.1:p.(Gly1166=)	NC_000017.10:g.29560021C>T	(Likely) benign	3 labs	783fbcedef
22:41903852 ACO2 C>T	22	41903852	41903852	C	T	ACO2	c.231C>T	NM_001098.3	NP_001089.1:p.(Pro77=)	NC_000022.10:g.41903852C>T	(Likely) benign	2 labs	7849ca5d1e
8:144995292 PLEC G>A	8	144995292	144995292	G	A	PLEC	c.9108C>T	NM_201380.4	NP_958782.1:p.(Ser3036=)	NC_000008.10:g.144995292G>A	(Likely) benign	2 labs	784adf021a
1:8418896 RERE C>T	1	8418896	8418896	C	T	RERE	c.3699G>A	NM_012102.4	NP_036234.3:p.(Glu1233=)	NC_000001.10:g.8418896C>T	(Likely) benign	2 labs	7850cc7d67
15:48752493 FBN1 CCA>C	15	48752493	48752497	CCA	C	FBN1	c.5244_5245del	NM_000138.5	NP_000129.3:p.(Cys1748TrpfsTer18)	NC_000015.9:g.48752496_48752497del	(Likely) pathogenic	2 labs	7858a07956
11:61205157 SDHAF2 C>T	11	61205157	61205157	C	T	SDHAF2	c.97C>T	NM_017841.4	NP_060311.1:p.(Arg33Cys)	NC_000011.9:g.61205157C>T	(Likely) benign	2 labs	7859108198
11:47357554 MYBPC3 TG>T	11	47357554	47357560	TG	T	MYBPC3	c.2610del	NM_000256.3	NP_000247.2:p.(Ser871AlafsTer8)	NC_000011.9:g.47357560del	(Likely) pathogenic	2 labs	785b3eb7d6
11:121425955 SORL1 A>T	11	121425955	121425955	A	T	SORL1	c.2499A>T	NM_003105.6	NP_003096.2:p.(Thr833=)	NC_000011.9:g.121425955A>T	(Likely) benign	2 labs	7874e25395
7:92147017 PEX1 T>C	7	92147017	92147017	T	C	PEX1	c.188A>G	NM_001282678.2	NP_001269607.1:p.(Asn63Ser)	NC_000007.13:g.92147017T>C	(Likely) benign	3 labs	78848e1b14
3:46899968 MYL3 G>A	3	46899968	46899968	G	A	MYL3	c.482-17C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899968G>A	(Likely) benign	3 labs	789571e7a0
1:94495123 ABCA4 G>T	1	94495123	94495123	G	T	ABCA4	c.4417C>A	NM_000350.3	NP_000341.2:p.(Leu1473Met)	NC_000001.10:g.94495123G>T	VUS	2 labs	789b33f78b
1:215821998 USH2A C>T	1	215821998	215821998	C	T	USH2A	c.14454G>A	NM_206933.4	NP_996816.3:p.(Pro4818=)	NC_000001.10:g.215821998C>T	(Likely) benign	2 labs	78aaf2c2ea
1:197411404 CRB1 CG>C	1	197411404	197411405	CG	C	CRB1	c.3916del	NM_001257965.2	NP_001244894.1:p.(Glu1306SerfsTer11)	NC_000001.10:g.197411405del	(Likely) pathogenic	3 labs	78acaf1626
6:100838544 SIM1 C>T	6	100838544	100838544	C	T	SIM1	c.1994G>A	NM_005068.3	NP_005059.2:p.(Arg665His)	NC_000006.11:g.100838544C>T	(Likely) benign	2 labs	78c2d9bec2
6:56471086 DST G>A	6	56471086	56471086	G	A	DST	c.8340C>T	NM_001374736.1	NP_001361665.1:p.(Ser2780=)	NC_000006.11:g.56471086G>A	(Likely) benign	2 labs	78ca60256f
7:30668299 GARS1 T>C	7	30668299	30668299	T	C	GARS1	c.1809+14T>C	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30668299T>C	(Likely) benign	2 labs	78cd33f7e5
9:113562599 MUSK C>T	9	113562599	113562599	C	T	MUSK	c.1941C>T	NM_005592.4	NP_005583.1:p.(Val647=)	NC_000009.11:g.113562599C>T	(Likely) benign	2 labs	78d47eb0a8
2:21230239 APOB T>C	2	21230239	21230239	T	C	APOB	c.9501A>G	NM_000384.3	NP_000375.3:p.(Gln3167=)	NC_000002.11:g.21230239T>C	(Likely) benign	2 labs	78d8de40fd
2:179435121 TTN T>C	2	179435121	179435121	T	C	TTN	c.75738A>G	NM_001267550.2	NP_001254479.2:p.(Glu25246=)	NC_000002.11:g.179435121T>C	(Likely) benign	2 labs	78efc173d6
5:90445884 ADGRV1 A>G	5	90445884	90445884	A	G	ADGRV1	c.18470A>G	NM_032119.4	NP_115495.3:p.(Asn6157Ser)	NC_000005.9:g.90445884A>G	(Likely) benign	2 labs	78f845297f
16:72828304 ZFHX3 C>A	16	72828304	72828304	C	A	ZFHX3	c.8277G>T	NM_001386735.1	NP_001373664.1:p.(Gln2759His)	NC_000016.9:g.72828304C>A	(Likely) benign	2 labs	791a1ae1d5
X:64722366 ZC3H12B C>G	X	64722366	64722366	C	G	ZC3H12B	c.1788C>G	NM_001010888.3	NP_001010888.3:p.(Ser596=)	NC_000023.10:g.64722366C>G	(Likely) benign	2 labs	79207b9f99
11:66297398 BBS1 G>A	11	66297398	66297398	G	A	BBS1	c.1448G>A	NM_024649.5	NP_078925.3:p.(Arg483Gln)	NC_000011.9:g.66297398G>A	(Likely) benign	2 labs	792c1cba98
2:74594895 DCTN1 T>C	2	74594895	74594895	T	C	DCTN1	c.2112A>G	NM_004082.5	NP_004073.2:p.(Glu704=)	NC_000002.11:g.74594895T>C	(Likely) benign	2 labs	793488004f
3:87276699 CHMP2B C>T	3	87276699	87276699	C	T	CHMP2B	c.27C>T	NM_014043.4	NP_054762.2:p.(Thr9=)	NC_000003.11:g.87276699C>T	(Likely) benign	2 labs	793fa0ce34
7:107350539 SLC26A4 C>T	7	107350539	107350539	C	T	SLC26A4	c.2130C>T	NM_000441.2	NP_000432.1:p.(Asp710=)	NC_000007.13:g.107350539C>T	(Likely) benign	2 labs	7956a7e471
13:110826879 COL4A1 G>GA	13	110826879	110826886	G	GA	COL4A1	c.3326-7dup	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110826886dup	(Likely) benign	3 labs	795bfd1c56
6:121768773 GJA1 T>G	6	121768773	121768773	T	G	GJA1	c.780T>G	NM_000165.5	NP_000156.1:p.(Cys260Trp)	NC_000006.11:g.121768773T>G	VUS	2 labs	7961f310ee
2:179542499 TTN T>TTCAGGTAGAACTTCCTCTTCC	2	179542499	179542561	T	TTCAGGTAGAACTTCCTCTTCC	TTN	c.34119_34139dup	NM_001267550.2	NP_001254479.2:p.(Val11384_Glu11390dup)	NC_000002.11:g.179542541_179542561dup	(Likely) benign	4 labs	7973374c05
7:33380556 BBS9 G>A	7	33380556	33380556	G	A	BBS9	c.1246G>A	NM_198428.3	NP_940820.1:p.(Val416Met)	NC_000007.13:g.33380556G>A	(Likely) benign	3 labs	796eacf162
3:81627175 GBE1 T>C	3	81627175	81627175	T	C	GBE1	c.1519A>G	NM_000158.4	NP_000149.4:p.(Thr507Ala)	NC_000003.11:g.81627175T>C	(Likely) benign	3 labs	797722a43b
12:32949029 PKP2 A>AG	12	32949029	32949030	A	AG	PKP2	c.2489+13_2489+14insC	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949029_32949030insG	(Likely) benign	4 labs	79799ab4a8
2:220285583 DES A>G	2	220285583	220285583	A	G	DES	c.931A>G	NM_001927.4	NP_001918.3:p.(Asn311Asp)	NC_000002.11:g.220285583A>G	VUS	2 labs	797b300ed5
15:42652099 CAPN3 T>C	15	42652099	42652099	T	C	CAPN3	c.96T>C	NM_000070.3	NP_000061.1:p.(Thr32=)	NC_000015.9:g.42652099T>C	(Likely) benign	2 labs	797bdb44d4
2:47702337 MSH2 C>G	2	47702337	47702337	C	G	MSH2	c.1933C>G	NM_000251.3	NP_000242.1:p.(Gln645Glu)	NC_000002.11:g.47702337C>G	(Likely) benign	3 labs	79818f5080
15:85411633 ALPK3 G>A	15	85411633	85411633	G	A	ALPK3	c.5064G>A	NM_020778.5	NP_065829.4:p.(Leu1688=)	NC_000015.9:g.85411633G>A	(Likely) benign	3 labs	79885df05d
4:100510896 MTTP A>G	4	100510896	100510896	A	G	MTTP	c.490A>G	NM_000253.4	NP_000244.2:p.(Thr164Ala)	NC_000004.11:g.100510896A>G	(Likely) benign	2 labs	79925d40f9
15:44864894 SPG11 C>T	15	44864894	44864894	C	T	SPG11	c.6330G>A	NM_025137.4	NP_079413.3:p.(Gly2110=)	NC_000015.9:g.44864894C>T	(Likely) benign	2 labs	7995c288f5
5:127666298 FBN2 C>T	5	127666298	127666298	C	T	FBN2	c.4312G>A	NM_001999.4	NP_001990.2:p.(Glu1438Lys)	NC_000005.9:g.127666298C>T	(Likely) benign	4 labs	799e890305
3:123419116 MYLK GTTC>G	3	123419116	123419124	GTTC	G	MYLK	c.3196_3198del	NM_053025.4	NP_444253.3:p.(Glu1066del)	NC_000003.11:g.123419122_123419124del	(Likely) benign	2 labs	799f39bd84
2:44049973 ABCG5 C>T	2	44049973	44049973	C	T	ABCG5	c.1426G>A	NM_022436.3	NP_071881.1:p.(Val476Ile)	NC_000002.11:g.44049973C>T	(Likely) benign	2 labs	79abb928ba
X:73751364 SLC16A2 C>T	X	73751364	73751364	C	T	SLC16A2	c.1596C>T	NM_006517.5	NP_006508.2:p.(Ser532=)	NC_000023.10:g.73751364C>T	(Likely) benign	2 labs	79ad936f38
17:41201156 BRCA1 T>C	17	41201156	41201156	T	C	BRCA1	c.5388A>G	NM_007294.4	NP_009225.1:p.(Ser1796=)	NC_000017.10:g.41201156T>C	(Likely) benign	2 labs	79aea620c3
4:170398454 NEK1 T>C	4	170398454	170398454	T	C	NEK1	c.2255A>G	NM_001199397.3	NP_001186326.1:p.(Glu752Gly)	NC_000004.11:g.170398454T>C	(Likely) benign	2 labs	79b129a7cd
1:214571353 PTPN14 G>A	1	214571353	214571353	G	A	PTPN14	c.670-9C>T	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214571353G>A	(Likely) benign	2 labs	79b86bac59
6:135788730 AHI1 T>C	6	135788730	135788730	T	C	AHI1	c.178A>G	NM_001350503.2	NP_001337432.1:p.(Thr60Ala)	NC_000006.11:g.135788730T>C	(Likely) benign	2 labs	79bf99def7
4:84185511 COQ2 G>A	4	84185511	84185511	G	A	COQ2	c.1107C>T	NM_015697.9	NP_056512.5:p.(Tyr369=)	NC_000004.11:g.84185511G>A	(Likely) benign	3 labs	79c7bb3a8a
3:46902226 MYL3 G>A	3	46902226	46902226	G	A	MYL3	c.247C>T	NM_000258.3	NP_000249.1:p.(Leu83=)	NC_000003.11:g.46902226G>A	(Likely) benign	3 labs	79d015ab9c
1:78392139 NEXN A>T	1	78392139	78392139	A	T	NEXN	c.530A>T	NM_144573.4	NP_653174.3:p.(Lys177Ile)	NC_000001.10:g.78392139A>T	VUS	4 labs	79d8f9f4fb
2:189922092 COL5A2 G>C	2	189922092	189922092	G	C	COL5A2	c.2291C>G	NM_000393.5	NP_000384.2:p.(Pro764Arg)	NC_000002.11:g.189922092G>C	(Likely) benign	2 labs	79d34465d8
2:48025772 MSH6 A>AT	2	48025772	48025773	A	AT	MSH6	c.651dup	NM_000179.3	NP_000170.1:p.(Lys218Ter)	NC_000002.11:g.48025773dup	(Likely) pathogenic	6 labs	79da024b56
2:179664594 TTN C>T	2	179664594	179664594	C	T	TTN	c.627G>A	NM_133378.4	NP_596869.4:p.(Ser209=)	NC_000002.11:g.179664594C>T	(Likely) benign	2 labs	79dc8d9bdc
2:15307412 NBAS G>C	2	15307412	15307412	G	C	NBAS	c.6876C>G	NM_015909.4	NP_056993.2:p.(Ser2292=)	NC_000002.11:g.15307412G>C	(Likely) benign	2 labs	79e3de0b31
12:125302104 SCARB1 G>A	12	125302104	125302104	G	A	SCARB1	c.276C>T	NM_005505.5	NP_005496.4:p.(Tyr92=)	NC_000012.11:g.125302104G>A	(Likely) benign	2 labs	79ed458323
1:116280970 CASQ2 C>T	1	116280970	116280970	C	T	CASQ2	c.421-14G>A	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116280970C>T	(Likely) benign	2 labs	79ef854f9f
5:178552137 ADAMTS2 C>T	5	178552137	178552137	C	T	ADAMTS2	c.2795G>A	NM_014244.5	NP_055059.2:p.(Arg932Gln)	NC_000005.9:g.178552137C>T	(Likely) benign	2 labs	79f35cb0de
5:7889387 MTRR C>T	5	7889387	7889387	C	T	MTRR	c.1326C>T	NM_002454.3	NP_002445.2:p.(Leu442=)	NC_000005.9:g.7889387C>T	(Likely) benign	2 labs	79f58d0275
2:44099394 ABCG8 C>T	2	44099394	44099394	C	T	ABCG8	c.1160C>T	NM_022437.3	NP_071882.1:p.(Pro387Leu)	NC_000002.11:g.44099394C>T	(Likely) benign	2 labs	79f84cea81
5:82816909 VCAN A>G	5	82816909	82816909	A	G	VCAN	c.2784A>G	NM_004385.5	NP_004376.2:p.(Val928=)	NC_000005.9:g.82816909A>G	(Likely) benign	2 labs	79f89cfd62
3:38802217 SCN10A C>T	3	38802217	38802217	C	T	SCN10A	c.905G>A	NM_006514.4	NP_006505.4:p.(Arg302Gln)	NC_000003.11:g.38802217C>T	(Likely) benign	2 labs	79fbdb9314
12:21331625 SLCO1B1 C>T	12	21331625	21331625	C	T	SLCO1B1	c.597C>T	NM_006446.5	NP_006437.3:p.(Phe199=)	NC_000012.11:g.21331625C>T	(Likely) benign	2 labs	79fdd42f77
15:65369404 KBTBD13 G>C	15	65369404	65369404	G	C	KBTBD13	c.251G>C	NM_001101362.3	NP_001094832.1:p.(Cys84Ser)	NC_000015.9:g.65369404G>C	VUS	2 labs	7a039ad2ae
9:79852900 VPS13A C>CT	9	79852900	79852910	C	CT	VPS13A	c.1596-8dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79852910dup	(Likely) benign	2 labs	7a0e691105
22:24143292 SMARCB1 C>G	22	24143292	24143292	C	G	SMARCB1	c.500+24C>G	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24143292C>G	(Likely) benign	3 labs	7a0555e491
2:179435609 TTN G>A	2	179435609	179435609	G	A	TTN	c.75250C>T	NM_001267550.2	NP_001254479.2:p.(Arg25084Ter)	NC_000002.11:g.179435609G>A	(Likely) pathogenic	2 labs	7a06d259b9
3:123426603 MYLK G>A	3	123426603	123426603	G	A	MYLK	c.2388C>T	NM_053025.4	NP_444253.3:p.(Leu796=)	NC_000003.11:g.123426603G>A	(Likely) benign	3 labs	7a091a5c1b
14:23899811 MYH7 G>A	14	23899811	23899811	G	A	MYH7	c.957C>T	NM_000257.4	NP_000248.2:p.(Thr319=)	NC_000014.8:g.23899811G>A	(Likely) benign	2 labs	7a26c73b61
11:47360239 MYBPC3 G>T	11	47360239	47360239	G	T	MYBPC3	c.2149-9C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360239G>T	(Likely) benign	2 labs	7a2b861532
11:19206481 CSRP3 G>A	11	19206481	19206481	G	A	CSRP3	c.508+18C>T	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19206481G>A	(Likely) benign	3 labs	7a2d2b9f3b
18:6974990 LAMA1 G>A	18	6974990	6974990	G	A	LAMA1	c.6535C>T	NM_005559.4	NP_005550.2:p.(Leu2179=)	NC_000018.9:g.6974990G>A	(Likely) benign	2 labs	7a35a8a0ce
15:23891420 MAGEL2 C>T	15	23891420	23891420	C	T	MAGEL2	c.1470G>A	NM_019066.5	NP_061939.3:p.(Pro490=)	NC_000015.9:g.23891420C>T	(Likely) benign	2 labs	7a38be4f79
9:130592004 ENG G>A	9	130592004	130592004	G	A	ENG	c.322C>T	NM_000118.3	NP_000109.1:p.(His108Tyr)	NC_000009.11:g.130592004G>A	(Likely) benign	3 labs	7a3a659ad4
13:111102042 COL4A2 G>A	13	111102042	111102042	G	A	COL4A2	c.1095G>A	NM_001846.4	NP_001837.2:p.(Pro365=)	NC_000013.10:g.111102042G>A	(Likely) benign	2 labs	7a42580fcc
22:38121872 TRIOBP C>T	22	38121872	38121872	C	T	TRIOBP	c.3309C>T	NM_001039141.3	NP_001034230.1:p.(His1103=)	NC_000022.10:g.38121872C>T	(Likely) benign	2 labs	7a44bd3c9c
2:73675263 ALMS1 C>G	2	73675263	73675263	C	G	ALMS1	c.1612C>G	NM_015120.4	NP_055935.4:p.(Leu538Val)	NC_000002.11:g.73675263C>G	(Likely) benign	2 labs	7a4c9baf82
11:65306818 LTBP3 G>A	11	65306818	65306818	G	A	LTBP3	c.3741C>T	NM_001130144.3	NP_001123616.1:p.(Ala1247=)	NC_000011.9:g.65306818G>A	(Likely) benign	3 labs	7a500ccdb9
17:48247606 SGCA C>T	17	48247606	48247606	C	T	SGCA	c.850C>T	NM_000023.4	NP_000014.1:p.(Arg284Cys)	NC_000017.10:g.48247606C>T	(Likely) pathogenic	3 labs	7a57de90f2
17:75398265 SEPTIN9 C>T	17	75398265	75398265	C	T	SEPTIN9	c.147C>T	NM_006640.5	NP_006631.2:p.(Gly49=)	NC_000017.10:g.75398265C>T	(Likely) benign	2 labs	7a63dc585a
8:24810441 NEFL G>A	8	24810441	24810441	G	A	NEFL	c.1514C>T	NM_006158.5	NP_006149.2:p.(Ala505Val)	NC_000008.10:g.24810441G>A	VUS	2 labs	7a64cad53c
14:102482736 DYNC1H1 A>G	14	102482736	102482736	A	G	DYNC1H1	c.7524A>G	NM_001376.5	NP_001367.2:p.(Leu2508=)	NC_000014.8:g.102482736A>G	(Likely) benign	2 labs	7a76c055d5
14:51080015 ATL1 C>T	14	51080015	51080015	C	T	ATL1	c.669C>T	NM_001127713.1	NP_001121185.1:p.(Tyr223=)	NC_000014.8:g.51080015C>T	(Likely) benign	2 labs	7a76d01b24
9:139409975 NOTCH1 G>A	9	139409975	139409975	G	A	NOTCH1	c.1863C>T	NM_017617.5	NP_060087.3:p.(Arg621=)	NC_000009.11:g.139409975G>A	(Likely) benign	3 labs	7a7d34fb7d
14:23897696 MYH7 G>A	14	23897696	23897696	G	A	MYH7	c.1578+13C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23897696G>A	(Likely) benign	2 labs	7a7f87741f
15:35083508 ACTC1 TCACACACA>T	15	35083508	35083554	TCACACACA	T	ACTC1	c.809-20_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083547_35083554del	(Likely) benign	2 labs	7a88947a07
14:23884342 MYH7 G>A	14	23884342	23884342	G	A	MYH7	c.5421C>T	NM_000257.4	NP_000248.2:p.(Gly1807=)	NC_000014.8:g.23884342G>A	(Likely) benign	2 labs	7a8a8b535a
12:32996205 PKP2 G>A	12	32996205	32996205	G	A	PKP2	c.1421C>T	NM_004572.4	NP_004563.2:p.(Ala474Val)	NC_000012.11:g.32996205G>A	(Likely) benign	3 labs	7a8e08dbf9
4:114290816 ANK2 G>C	4	114290816	114290816	G	C	ANK2	c.11465G>C	NM_001148.6	NP_001139.3:p.(Gly3822Ala)	NC_000004.11:g.114290816G>C	(Likely) benign	2 labs	7a8fd80eb9
14:102510737 DYNC1H1 C>T	14	102510737	102510737	C	T	DYNC1H1	c.12811C>T	NM_001376.5	NP_001367.2:p.(Arg4271Cys)	NC_000014.8:g.102510737C>T	VUS	2 labs	7a9faebe94
1:78408441 NEXN A>G	1	78408441	78408441	A	G	NEXN	c.1955A>G	NM_144573.4	NP_653174.3:p.(Tyr652Cys)	NC_000001.10:g.78408441A>G	VUS	3 labs	7aa4ab4128
19:45868360 ERCC2 G>C	19	45868360	45868360	G	C	ERCC2	c.417C>G	NM_000400.4	NP_000391.1:p.(Ala139=)	NC_000019.9:g.45868360G>C	(Likely) benign	2 labs	7aa99f72df
11:117234153 CEP164 C>T	11	117234153	117234153	C	T	CEP164	c.696C>T	NM_014956.5	NP_055771.4:p.(His232=)	NC_000011.9:g.117234153C>T	(Likely) benign	2 labs	7aae1afced
11:6638938 TPP1 T>C	11	6638938	6638938	T	C	TPP1	c.299A>G	NM_000391.4	NP_000382.3:p.(Gln100Arg)	NC_000011.9:g.6638938T>C	(Likely) benign	4 labs	7aca1f81b2
21:46932115 COL18A1 G>T	21	46932115	46932115	G	T	COL18A1	c.4354G>T	NM_030582.4	NP_085059.2:p.(Val1452Leu)	NC_000021.8:g.46932115G>T	(Likely) benign	3 labs	7acd4605b2
1:224588736 WDR26 A>G	1	224588736	224588736	A	G	WDR26	c.1287T>C	NM_001115113.3	NP_001108585.2:p.(His429=)	NC_000001.10:g.224588736A>G	(Likely) benign	2 labs	7ad6a96741
5:38528951 LIFR G>GACAC	5	38528951	38528980	G	GACAC	LIFR	c.143-13_143-10dup	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38528977_38528980dup	(Likely) benign	2 labs	7ad8de5766
11:108128232 ATM A>G	11	108128232	108128232	A	G	ATM	c.2275A>G	NM_000051.4	NP_000042.3:p.(Ser759Gly)	NC_000011.9:g.108128232A>G	VUS	3 labs	7adc036c48
3:38739106 SCN10A G>A	3	38739106	38739106	G	A	SCN10A	c.5605C>T	NM_006514.4	NP_006505.4:p.(Arg1869Cys)	NC_000003.11:g.38739106G>A	(Likely) benign	2 labs	7af582d78b
3:193360769 OPA1 A>G	3	193360769	193360769	A	G	OPA1	c.1236A>G	NM_130837.3	NP_570850.2:p.(Ala412=)	NC_000003.11:g.193360769A>G	(Likely) benign	2 labs	7af76adec8
7:107336428 SLC26A4 C>T	7	107336428	107336428	C	T	SLC26A4	c.1488C>T	NM_000441.2	NP_000432.1:p.(Leu496=)	NC_000007.13:g.107336428C>T	(Likely) benign	2 labs	7af7e5d0de
6:32046976 TNXB G>A	6	32046976	32046976	G	A	TNXB	c.4209C>T	NM_019105.8	NP_061978.6:p.(Thr1403=)	NC_000006.11:g.32046976G>A	(Likely) benign	2 labs	7afa141c11
2:215674197 BARD1 C>G	2	215674197	215674197	C	G	BARD1	c.97G>C	NM_000465.4	NP_000456.2:p.(Ala33Pro)	NC_000002.11:g.215674197C>G	VUS	2 labs	7aff783664
5:131008584 FNIP1 C>T	5	131008584	131008584	C	T	FNIP1	c.1553G>A	NM_133372.3	NP_588613.3:p.(Arg518Gln)	NC_000005.9:g.131008584C>T	VUS	2 labs	7b0a058d06
X:50053738 CCNB3 A>C	X	50053738	50053738	A	C	CCNB3	c.2569A>C	NM_033031.3	NP_149020.2:p.(Lys857Gln)	NC_000023.10:g.50053738A>C	(Likely) benign	2 labs	7b1697c571
10:94368954 KIF11 C>T	10	94368954	94368954	C	T	KIF11	c.565C>T	NM_004523.4	NP_004514.2:p.(Arg189Cys)	NC_000010.10:g.94368954C>T	VUS	2 labs	7b19413c2a
11:76916607 MYO7A C>T	11	76916607	76916607	C	T	MYO7A	c.5581C>T	NM_000260.4	NP_000251.3:p.(Arg1861Ter)	NC_000011.9:g.76916607C>T	(Likely) pathogenic	2 labs	7b1c00f463
19:11240210 LDLR T>TG	19	11240210	11240215	T	TG	LDLR	c.2416dup	NM_000527.5	NP_000518.1:p.(Val806GlyfsTer11)	NC_000019.9:g.11240215dup	(Likely) pathogenic	2 labs	7b1c1183bd
3:48626745 COL7A1 C>T	3	48626745	48626745	C	T	COL7A1	c.2314+15G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48626745C>T	(Likely) benign	2 labs	7b2632491e
20:32005736 SNTA1 G>A	20	32005736	32005736	G	A	SNTA1	c.497-7C>T	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32005736G>A	(Likely) benign	2 labs	7b2812dc1c
2:179444972 TTN G>A	2	179444972	179444972	G	A	TTN	c.67058-16C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179444972G>A	(Likely) benign	2 labs	7b375ba49f
8:38271547 FGFR1 G>A	8	38271547	38271547	G	A	FGFR1	c.2157-6C>T	NM_001174064.2	NP_001167535.1:p.?	NC_000008.10:g.38271547G>A	(Likely) benign	3 labs	7b3a3f77e6
14:95599776 DICER1 T>C	14	95599776	95599776	T	C	DICER1	c.20A>G	NM_177438.3	NP_803187.1:p.(Gln7Arg)	NC_000014.8:g.95599776T>C	(Likely) benign	4 labs	7b3e8c5540
17:78071150 CCDC40 AC>A	17	78071150	78071151	AC	A	CCDC40	c.3129del	NM_017950.4	NP_060420.2:p.(Phe1044SerfsTer35)	NC_000017.10:g.78071151del	(Likely) pathogenic	2 labs	7b4866fb38
1:74835080 TNNI3K G>A	1	74835080	74835080	G	A	TNNI3K	c.1478G>A	NM_015978.3	NP_057062.1:p.(Arg493Gln)	NC_000001.10:g.74835080G>A	VUS	2 labs	7b4d3e3fed
1:235600741 TBCE A>G	1	235600741	235600741	A	G	TBCE	c.1221A>G	NM_001287801.2	NP_001274730.1:p.(Leu407=)	NC_000001.10:g.235600741A>G	(Likely) benign	2 labs	7b5c84d35e
5:37226795 CPLANE1 A>C	5	37226795	37226795	A	C	CPLANE1	c.1902T>G	NM_023073.4	NP_075561.3:p.(Leu634=)	NC_000005.9:g.37226795A>C	(Likely) benign	2 labs	7b5d463426
15:44898289 SPG11 A>C	15	44898289	44898289	A	C	SPG11	c.3454T>G	NM_025137.4	NP_079413.3:p.(Ser1152Ala)	NC_000015.9:g.44898289A>C	VUS	2 labs	7b5e6b53de
X:119602983 LAMP2 G>A	X	119602983	119602983	G	A	LAMP2	c.42C>T	NM_002294.3	NP_002285.1:p.(Leu14=)	NC_000023.10:g.119602983G>A	(Likely) benign	3 labs	7b70cd10dc
2:179422916 TTN A>T	2	179422916	179422916	A	T	TTN	c.87165T>A	NM_001267550.2	NP_001254479.2:p.(Tyr29055Ter)	NC_000002.11:g.179422916A>T	(Likely) pathogenic	2 labs	7b7113f465
18:43438000 EPG5 C>A	18	43438000	43438000	C	A	EPG5	c.7260G>T	NM_020964.3	NP_066015.2:p.(Trp2420Cys)	NC_000018.9:g.43438000C>A	VUS	2 labs	7b7bed5bc2
12:1949940 CACNA2D4 G>A	12	1949940	1949940	G	A	CACNA2D4	c.2516C>T	NM_172364.5	NP_758952.4:p.(Ala839Val)	NC_000012.11:g.1949940G>A	VUS	2 labs	7b7f6fb83c
6:167369650 RNASET2 G>A	6	167369650	167369650	G	A	RNASET2	c.21C>T	NM_003730.6	NP_003721.2:p.(Arg7=)	NC_000006.11:g.167369650G>A	(Likely) benign	3 labs	7b8c670983
17:59876564 BRIP1 CT>C	17	59876564	59876566	CT	C	BRIP1	c.1236del	NM_032043.3	NP_114432.2:p.(Val413PhefsTer10)	NC_000017.10:g.59876566del	(Likely) pathogenic	5 labs	7b9b9f1773
18:19429208 MIB1 C>G	18	19429208	19429208	C	G	MIB1	c.2445C>G	NM_020774.4	NP_065825.1:p.(Thr815=)	NC_000018.9:g.19429208C>G	(Likely) benign	3 labs	7ba323b554
19:50714016 MYH14 G>A	19	50714016	50714016	G	A	MYH14	c.394G>A	NM_001145809.2	NP_001139281.1:p.(Gly132Ser)	NC_000019.9:g.50714016G>A	(Likely) benign	2 labs	7ba85cbd3f
15:73615878 HCN4 C>T	15	73615878	73615878	C	T	HCN4	c.2556G>A	NM_005477.3	NP_005468.1:p.(Pro852=)	NC_000015.9:g.73615878C>T	(Likely) benign	4 labs	7baaa1b5a6
7:91630603 AKAP9 G>C	7	91630603	91630603	G	C	AKAP9	c.1372G>C	NM_005751.5	NP_005742.4:p.(Ala458Pro)	NC_000007.13:g.91630603G>C	(Likely) benign	2 labs	7bc6f745f6
X:17394393 NHS C>T	X	17394393	17394393	C	T	NHS	c.513C>T	NM_001291867.2	NP_001278796.1:p.(Leu171=)	NC_000023.10:g.17394393C>T	(Likely) benign	2 labs	7bc96635de
2:179399645 TTN G>A	2	179399645	179399645	G	A	TTN	c.101697C>T	NM_001267550.2	NP_001254479.2:p.(Asp33899=)	NC_000002.11:g.179399645G>A	(Likely) benign	3 labs	7bcf2ff64d
2:179440677 TTN C>T	2	179440677	179440677	C	T	TTN	c.70182G>A	NM_001267550.2	NP_001254479.2:p.(Thr23394=)	NC_000002.11:g.179440677C>T	(Likely) benign	2 labs	7bd558ae23
20:10626068 JAG1 G>A	20	10626068	10626068	G	A	JAG1	c.2049C>T	NM_000214.3	NP_000205.1:p.(Arg683=)	NC_000020.10:g.10626068G>A	(Likely) benign	3 labs	7bd6d2fdfa
13:100622667 ZIC5 TGGC>T	13	100622667	100622703	TGGC	T	ZIC5	c.1188_1190del	NM_033132.5	NP_149123.3:p.(Pro400del)	NC_000013.10:g.100622701_100622703del	(Likely) benign	2 labs	7be1e984aa
7:150644881 KCNH2 C>T	7	150644881	150644881	C	T	KCNH2	c.2778G>A	NM_000238.4	NP_000229.1:p.(Pro926=)	NC_000007.13:g.150644881C>T	(Likely) benign	2 labs	7be23a97a7
X:110439098 PAK3 C>G	X	110439098	110439098	C	G	PAK3	c.1139C>G	NM_002578.5	NP_002569.1:p.(Ser380Ter)	NC_000023.10:g.110439098C>G	(Likely) pathogenic	2 labs	7be60786a9
15:42694944 CAPN3 T>C	15	42694944	42694944	T	C	CAPN3	c.1537-48T>C	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42694944T>C	(Likely) benign	2 labs	7bf202a6c7
3:52485416 TNNC1 C>T	3	52485416	52485416	C	T	TNNC1	c.445G>A	NM_003280.3	NP_003271.1:p.(Asp149Asn)	NC_000003.11:g.52485416C>T	VUS	2 labs	7bf6067bca
7:128482871 FLNC T>TGC	7	128482871	128482875	T	TGC	FLNC	c.2416_2417dup	NM_001458.5	NP_001449.3:p.(Gly808GlnfsTer71)	NC_000007.13:g.128482874_128482875dup	(Likely) pathogenic	2 labs	7c10d9fffd
13:32913881 BRCA2 G>A	13	32913881	32913881	G	A	BRCA2	c.5389G>A	NM_000059.4	NP_000050.3:p.(Ala1797Thr)	NC_000013.10:g.32913881G>A	(Likely) benign	2 labs	7c0b03d62b
21:46929500 COL18A1 C>T	21	46929500	46929500	C	T	COL18A1	c.4716C>T	NM_130444.3	NP_569711.2:p.(Arg1572=)	NC_000021.8:g.46929500C>T	(Likely) benign	2 labs	7c1027eff2
1:201328406 TNNT2 T>C	1	201328406	201328406	T	C	TNNT2	c.822-23A>G	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201328406T>C	(Likely) benign	3 labs	7c12973137
9:139402694 NOTCH1 C>A	9	139402694	139402694	C	A	NOTCH1	c.3315G>T	NM_017617.5	NP_060087.3:p.(Ala1105=)	NC_000009.11:g.139402694C>A	(Likely) benign	3 labs	7c15889f0f
2:179406294 TTN C>T	2	179406294	179406294	C	T	TTN	c.97510G>A	NM_001267550.2	NP_001254479.2:p.(Glu32504Lys)	NC_000002.11:g.179406294C>T	(Likely) benign	2 labs	7c1923391c
8:10470291 RP1L1 G>T	8	10470291	10470291	G	T	RP1L1	c.1317C>A	NM_178857.6	NP_849188.4:p.(Gly439=)	NC_000008.10:g.10470291G>T	(Likely) benign	2 labs	7c19cc59fc
2:179641382 TTN C>A	2	179641382	179641382	C	A	TTN	c.5209G>T	NM_001267550.2	NP_001254479.2:p.(Glu1737Ter)	NC_000002.11:g.179641382C>A	(Likely) pathogenic	2 labs	7c208ad48a
14:21811196 RPGRIP1 A>G	14	21811196	21811196	A	G	RPGRIP1	c.3341A>G	NM_020366.4	NP_065099.3:p.(Asp1114Gly)	NC_000014.8:g.21811196A>G	(Likely) benign	3 labs	7c2927d83e
4:47954680 CNGA1 C>T	4	47954680	47954680	C	T	CNGA1	c.27G>A	NM_001142564.2	NP_001136036.2:p.(Gln9=)	NC_000004.11:g.47954680C>T	(Likely) benign	2 labs	7c2cb8f270
10:73562802 CDH23 T>C	10	73562802	73562802	T	C	CDH23	c.7630T>C	NM_022124.6	NP_071407.4:p.(Leu2544=)	NC_000010.10:g.73562802T>C	(Likely) benign	2 labs	7c3a6bec02
18:34298359 FHOD3 C>T	18	34298359	34298359	C	T	FHOD3	c.3098C>T	NM_001281740.3	NP_001268669.1:p.(Pro1033Leu)	NC_000018.9:g.34298359C>T	VUS	2 labs	7c46b4e827
10:92679983 ANKRD1 G>C	10	92679983	92679983	G	C	ANKRD1	c.150C>G	NM_014391.3	NP_055206.2:p.(Ala50=)	NC_000010.10:g.92679983G>C	(Likely) benign	4 labs	7c540654da
20:10393333 MKKS A>G	20	10393333	10393333	A	G	MKKS	c.830T>C	NM_018848.3	NP_061336.1:p.(Leu277Pro)	NC_000020.10:g.10393333A>G	(Likely) pathogenic	4 labs	7c6f96a608
10:55568971 PCDH15 C>G	10	55568971	55568971	C	G	PCDH15	c.4854G>C	NM_001142769.3	NP_001136241.1:p.(Glu1618Asp)	NC_000010.10:g.55568971C>G	(Likely) benign	2 labs	7c795db902
15:44912566 SPG11 A>G	15	44912566	44912566	A	G	SPG11	c.2656T>C	NM_025137.4	NP_079413.3:p.(Tyr886His)	NC_000015.9:g.44912566A>G	(Likely) benign	3 labs	7c7f8894f9
X:153595225 FLNA G>A	X	153595225	153595225	G	A	FLNA	c.869-7C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153595225G>A	(Likely) benign	2 labs	7c83431e99
X:123504173 SH2D1A A>G	X	123504173	123504173	A	G	SH2D1A	c.346+3A>G	NM_002351.5	NP_002342.1:p.?	NC_000023.10:g.123504173A>G	(Likely) benign	5 labs	7c91b7d610
16:81929488 PLCG2 C>T	16	81929488	81929488	C	T	PLCG2	c.1149C>T	NM_002661.5	NP_002652.2:p.(Asp383=)	NC_000016.9:g.81929488C>T	(Likely) benign	3 labs	7c9bdde28a
2:179402661 TTN A>G	2	179402661	179402661	A	G	TTN	c.99290-17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179402661A>G	(Likely) benign	2 labs	7c9f9541a1
1:3322160 PRDM16 C>G	1	3322160	3322160	C	G	PRDM16	c.1134C>G	NM_022114.4	NP_071397.3:p.(Ser378=)	NC_000001.10:g.3322160C>G	(Likely) benign	2 labs	7ca33d929f
3:58140624 FLNB G>A	3	58140624	58140624	G	A	FLNB	c.6834G>A	NM_001164317.2	NP_001157789.1:p.(Ser2278=)	NC_000003.11:g.58140624G>A	(Likely) benign	3 labs	7ca8d7af00
3:52027853 RPL29 TCCTTGG>T	3	52027853	52027881	TCCTTGG	T	RPL29	c.386_391del	NM_000992.3	NP_000983.1:p.(Ala129_Lys130del)	NC_000003.11:g.52027876_52027881del	(Likely) benign	2 labs	7cb26caa05
7:26236003 HNRNPA2B1 G>A	7	26236003	26236003	G	A	HNRNPA2B1	c.694+18C>T	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26236003G>A	(Likely) benign	2 labs	7cb61ecf7f
14:76429712 TGFB3 C>T	14	76429712	76429712	C	T	TGFB3	c.873G>A	NM_003239.5	NP_003230.1:p.(Pro291=)	NC_000014.8:g.76429712C>T	VUS	2 labs	7cb873f069
5:149515151 PDGFRB C>T	5	149515151	149515151	C	T	PDGFRB	c.331G>A	NM_002609.4	NP_002600.1:p.(Asp111Asn)	NC_000005.9:g.149515151C>T	(Likely) benign	3 labs	7cc227cd59
10:112404362 RBM20 A>T	10	112404362	112404362	A	T	RBM20	c.150A>T	NM_001134363.3	NP_001127835.2:p.(Pro50=)	NC_000010.10:g.112404362A>T	(Likely) benign	4 labs	7cc5cd28ff
16:31202744 FUS G>A	16	31202744	31202744	G	A	FUS	c.1566G>A	NM_004960.4	NP_004951.1:p.(Arg522=)	NC_000016.9:g.31202744G>A	(Likely) benign	3 labs	7cc62ca646
6:129807714 LAMA2 G>A	6	129807714	129807714	G	A	LAMA2	c.7845G>A	NM_000426.4	NP_000417.3:p.(Pro2615=)	NC_000006.11:g.129807714G>A	(Likely) benign	3 labs	7cc8010113
11:108188266 ATM A>AT	11	108188266	108188279	A	AT	ATM	c.6347+31dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108188279dup	(Likely) benign	3 labs	7cd6afe7bf
16:1616232 IFT140 C>T	16	1616232	1616232	C	T	IFT140	c.1831G>A	NM_014714.4	NP_055529.2:p.(Val611Ile)	NC_000016.9:g.1616232C>T	(Likely) benign	4 labs	7ce1f23f2a
8:100883895 VPS13B C>A	8	100883895	100883895	C	A	VPS13B	c.11790C>A	NM_017890.5	NP_060360.3:p.(Leu3930=)	NC_000008.10:g.100883895C>A	(Likely) benign	2 labs	7ce4462c10
19:40902685 PRX A>G	19	40902685	40902685	A	G	PRX	c.1574T>C	NM_181882.3	NP_870998.2:p.(Val525Ala)	NC_000019.9:g.40902685A>G	(Likely) benign	2 labs	7ced9af216
8:145740375 RECQL4 C>T	8	145740375	145740375	C	T	RECQL4	c.1565G>A	NM_004260.4	NP_004251.4:p.(Arg522His)	NC_000008.10:g.145740375C>T	(Likely) benign	3 labs	7cee3f5da3
18:34238062 FHOD3 T>C	18	34238062	34238062	T	C	FHOD3	c.1746T>C	NM_001281740.3	NP_001268669.1:p.(Ser582=)	NC_000018.9:g.34238062T>C	(Likely) benign	2 labs	7cf0c0d879
11:108205825 ATM C>T	11	108205825	108205825	C	T	ATM	c.8140C>T	NM_000051.4	NP_000042.3:p.(Gln2714Ter)	NC_000011.9:g.108205825C>T	(Likely) pathogenic	3 labs	7cfb378843
X:21857882 MBTPS2 G>C	X	21857882	21857882	G	C	MBTPS2	c.30G>C	NM_015884.4	NP_056968.1:p.(Val10=)	NC_000023.10:g.21857882G>C	(Likely) benign	2 labs	7cfd3a8da3
1:97981343 DPYD A>C	1	97981343	97981343	A	C	DPYD	c.1679T>G	NM_000110.4	NP_000101.2:p.(Ile560Ser)	NC_000001.10:g.97981343A>C	(Likely) pathogenic	3 labs	7d0512860b
11:6647622 DCHS1 T>C	11	6647622	6647622	T	C	DCHS1	c.6365-11A>G	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6647622T>C	(Likely) benign	2 labs	7d2a88f605
1:94578618 ABCA4 C>T	1	94578618	94578618	C	T	ABCA4	c.71G>A	NM_000350.3	NP_000341.2:p.(Arg24His)	NC_000001.10:g.94578618C>T	(Likely) pathogenic	3 labs	7d3a05b6a7
7:107749668 LAMB4 C>G	7	107749668	107749668	C	G	LAMB4	c.350G>C	NM_007356.3	NP_031382.2:p.(Arg117Thr)	NC_000007.13:g.107749668C>G	(Likely) benign	2 labs	7d4191c170
14:23868214 MYH6 C>T	14	23868214	23868214	C	T	MYH6	c.1614G>A	NM_002471.4	NP_002462.2:p.(Glu538=)	NC_000014.8:g.23868214C>T	(Likely) benign	3 labs	7d4258d90b
2:179456110 TTN G>A	2	179456110	179456110	G	A	TTN	c.60342C>T	NM_001267550.2	NP_001254479.2:p.(Thr20114=)	NC_000002.11:g.179456110G>A	(Likely) benign	2 labs	7d46cdbedf
1:78383874 NEXN G>A	1	78383874	78383874	G	A	NEXN	c.363G>A	NM_144573.4	NP_653174.3:p.(Thr121=)	NC_000001.10:g.78383874G>A	(Likely) benign	4 labs	7d489a30af
1:237982383 RYR2 C>A	1	237982383	237982383	C	A	RYR2	c.14481C>A	NM_001035.3	NP_001026.2:p.(Ile4827=)	NC_000001.10:g.237982383C>A	(Likely) benign	3 labs	7d4d8e7732
2:170092439 LRP2 G>A	2	170092439	170092439	G	A	LRP2	c.4831C>T	NM_004525.3	NP_004516.2:p.(Leu1611=)	NC_000002.11:g.170092439G>A	(Likely) benign	2 labs	7d4ef09e45
2:179481248 TTN G>A	2	179481248	179481248	G	A	TTN	c.48270C>T	NM_001267550.2	NP_001254479.2:p.(Tyr16090=)	NC_000002.11:g.179481248G>A	(Likely) benign	2 labs	7d5b454ee2
11:65321726 LTBP3 C>T	11	65321726	65321726	C	T	LTBP3	c.457G>A	NM_001130144.3	NP_001123616.1:p.(Gly153Ser)	NC_000011.9:g.65321726C>T	(Likely) benign	2 labs	7d5c707c70
17:41243702 BRCA1 T>C	17	41243702	41243702	T	C	BRCA1	c.3846A>G	NM_007294.4	NP_009225.1:p.(Glu1282=)	NC_000017.10:g.41243702T>C	(Likely) benign	2 labs	7d5e6da312
17:63534429 AXIN2 G>A	17	63534429	63534429	G	A	AXIN2	c.1092C>T	NM_004655.4	NP_004646.3:p.(Pro364=)	NC_000017.10:g.63534429G>A	(Likely) benign	2 labs	7d62f4dfd3
10:103826314 HPS6 C>T	10	103826314	103826314	C	T	HPS6	c.1083C>T	NM_024747.6	NP_079023.2:p.(Pro361=)	NC_000010.10:g.103826314C>T	(Likely) benign	2 labs	7d6af0b6a9
1:3347452 PRDM16 G>A	1	3347452	3347452	G	A	PRDM16	c.3301G>A	NM_022114.4	NP_071397.3:p.(Val1101Met)	NC_000001.10:g.3347452G>A	(Likely) benign	4 labs	7d6c468a39
8:61743153 CHD7 C>T	8	61743153	61743153	C	T	CHD7	c.3778+17C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61743153C>T	(Likely) benign	3 labs	7d6df018fe
15:91354520 BLM C>T	15	91354520	91354520	C	T	BLM	c.3960C>T	NM_000057.4	NP_000048.1:p.(Pro1320=)	NC_000015.9:g.91354520C>T	(Likely) benign	2 labs	7d746f3abf
6:32010227 TNXB C>T	6	32010227	32010227	C	T	TNXB	c.12204+5G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010227C>T	VUS	2 labs	7d76141584
19:35524939 SCN1B C>A	19	35524939	35524939	C	A	SCN1B	c.744C>A	NM_199037.5	NP_950238.1:p.(Ser248Arg)	NC_000019.9:g.35524939C>A	(Likely) benign	3 labs	7d7d734dc0
19:50783355 MYH14 G>A	19	50783355	50783355	G	A	MYH14	c.4094G>A	NM_001145809.2	NP_001139281.1:p.(Ser1365Asn)	NC_000019.9:g.50783355G>A	(Likely) benign	2 labs	7d85aeea62
4:123844298 NUDT6 A>C	4	123844298	123844298	A	C	NUDT6				NC_000004.11:g.123844298A>C	(Likely) pathogenic	2 labs	b04e3517be
19:49671212 TRPM4 T>G	19	49671212	49671212	T	G	TRPM4	c.306T>G	NM_017636.4	NP_060106.2:p.(Val102=)	NC_000019.9:g.49671212T>G	(Likely) benign	2 labs	7d961ebe9e
1:226924196 ITPKB C>T	1	226924196	226924196	C	T	ITPKB	c.964G>A	NM_002221.4	NP_002212.3:p.(Ala322Thr)	NC_000001.10:g.226924196C>T	(Likely) benign	2 labs	7da867074d
X:153069577 PDZD4 G>C	X	153069577	153069577	G	C	PDZD4	c.1253C>G	NM_001303513.3	NP_001290442.1:p.(Pro418Arg)	NC_000023.10:g.153069577G>C	(Likely) benign	2 labs	7dae1ec78a
1:55505180 PCSK9 C>A	1	55505180	55505180	C	A	PCSK9				NC_000001.10:g.55505180C>A	VUS	2 labs	7dbcbd2d84
12:12870797 CDKN1B C>T	12	12870797	12870797	C	T	CDKN1B	c.24C>T	NM_004064.5	NP_004055.1:p.(Asn8=)	NC_000012.11:g.12870797C>T	(Likely) benign	2 labs	7db4111630
X:153455671 OPN1MW G>T	X	153455671	153455671	G	T	OPN1MW	c.538G>T	NM_000513.2	NP_000504.1:p.(Ala180Ser)	NC_000023.10:g.153455671G>T	(Likely) benign	2 labs	7dbefccd87
14:23855160 MYH6 G>T	14	23855160	23855160	G	T	MYH6	c.5140C>A	NM_002471.4	NP_002462.2:p.(Arg1714=)	NC_000014.8:g.23855160G>T	(Likely) benign	2 labs	7dc25f04f8
16:75669867 KARS1 T>C	16	75669867	75669867	T	C	KARS1	c.696A>G	NM_001130089.2	NP_001123561.1:p.(Thr232=)	NC_000016.9:g.75669867T>C	(Likely) benign	3 labs	7dc35e1b82
9:80866948 CEP78 A>G	9	80866948	80866948	A	G	CEP78	c.1197A>G	NM_001098802.3	NP_001092272.1:p.(Ala399=)	NC_000009.11:g.80866948A>G	(Likely) benign	2 labs	7dc663fdde
19:47259313 FKRP G>A	19	47259313	47259313	G	A	FKRP	c.606G>A	NM_001039885.3	NP_001034974.1:p.(Leu202=)	NC_000019.9:g.47259313G>A	(Likely) benign	2 labs	7dcf299a22
3:38640384 SCN5A G>A	3	38640384	38640384	G	A	SCN5A	c.2023+25C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38640384G>A	(Likely) benign	2 labs	7dd2cae2b1
20:5282850 PROKR2 C>T	20	5282850	5282850	C	T	PROKR2	c.991G>A	NM_144773.4	NP_658986.1:p.(Val331Met)	NC_000020.10:g.5282850C>T	(Likely) benign	2 labs	7de098cc28
10:112572062 RBM20 G>A	10	112572062	112572062	G	A	RBM20	c.1907G>A	NM_001134363.3	NP_001127835.2:p.(Arg636His)	NC_000010.10:g.112572062G>A	(Likely) pathogenic	2 labs	7de1422bef
2:15378822 NBAS G>GAATT	2	15378822	15378826	G	GAATT	NBAS	c.5725-13_5725-12insAATT	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15378825_15378826insTAAT	(Likely) benign	2 labs	7de3f2770a
5:127702120 FBN2 T>G	5	127702120	127702120	T	G	FBN2	c.2252A>C	NM_001999.4	NP_001990.2:p.(Glu751Ala)	NC_000005.9:g.127702120T>G	VUS	3 labs	7de84de123
11:2906090 CDKN1C GGGGGCC>G	11	2906090	2906119	GGGGGCC	G	CDKN1C	c.624_629del	NM_000076.2	NP_000067.1:p.(Ala215_Pro216del)	NC_000011.9:g.2906114_2906119del	(Likely) benign	2 labs	7dec29be2a
22:19753961 TBX1 A>G	22	19753961	19753961	A	G	TBX1	c.1059A>G	NM_080647.1	NP_542378.1:p.(Ala353=)	NC_000022.10:g.19753961A>G	(Likely) benign	3 labs	7df630e466
14:102466430 DYNC1H1 G>A	14	102466430	102466430	G	A	DYNC1H1	c.3909G>A	NM_001376.5	NP_001367.2:p.(Ala1303=)	NC_000014.8:g.102466430G>A	(Likely) benign	3 labs	7e0113ac4c
17:56774155 RAD51C T>C	17	56774155	56774155	T	C	RAD51C	c.506T>C	NM_058216.3	NP_478123.1:p.(Val169Ala)	NC_000017.10:g.56774155T>C	(Likely) benign	5 labs	7e09e47e52
3:57232504 HESX1 T>C	3	57232504	57232504	T	C	HESX1	c.374A>G	NM_003865.3	NP_003856.1:p.(Asn125Ser)	NC_000003.11:g.57232504T>C	(Likely) benign	3 labs	7e0ec243f0
14:68196053 RDH12 CGCCCT>C	14	68196053	68196059	CGCCCT	C	RDH12	c.806_810del	NM_152443.3	NP_689656.2:p.(Ala269GlyfsTer2)	NC_000014.8:g.68196055_68196059del	(Likely) pathogenic	2 labs	7e0ed5cafb
2:167134644 SCN9A G>A	2	167134644	167134644	G	A	SCN9A	c.2484+6C>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167134644G>A	(Likely) benign	2 labs	7e0f60e79d
16:920009 LMF1 G>A	16	920009	920009	G	A	LMF1	c.1290C>T	NM_022773.4	NP_073610.2:p.(Ser430=)	NC_000016.9:g.920009G>A	(Likely) benign	2 labs	7e1f1cdee5
17:63221579 RGS9 C>T	17	63221579	63221579	C	T	RGS9	c.1867C>T	NM_003835.4	NP_003826.2:p.(Arg623Ter)	NC_000017.10:g.63221579C>T	VUS	2 labs	7e1f945e88
4:110791526 LRIT3 A>G	4	110791526	110791526	A	G	LRIT3	c.1621A>G	NM_198506.5	NP_940908.3:p.(Ile541Val)	NC_000004.11:g.110791526A>G	(Likely) benign	2 labs	7e27cba255
2:179577870 TTN T>C	2	179577870	179577870	T	C	TTN	c.26991A>G	NM_001267550.2	NP_001254479.2:p.(Thr8997=)	NC_000002.11:g.179577870T>C	(Likely) benign	3 labs	7e2a075ebe
15:73635803 HCN4 G>A	15	73635803	73635803	G	A	HCN4	c.1132C>T	NM_005477.3	NP_005468.1:p.(Arg378Cys)	NC_000015.9:g.73635803G>A	VUS	2 labs	7e30bbe033
1:236883484 ACTN2 G>A	1	236883484	236883484	G	A	ACTN2	c.441G>A	NM_001103.4	NP_001094.1:p.(Ser147=)	NC_000001.10:g.236883484G>A	(Likely) benign	2 labs	7e3640858f
13:100764074 PCCA ATG>A	13	100764074	100764079	ATG	A	PCCA	c.184-17_184-16del	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100764078_100764079del	(Likely) benign	3 labs	7e39082c16
4:79285084 FRAS1 C>T	4	79285084	79285084	C	T	FRAS1	c.2598C>T	NM_025074.7	NP_079350.5:p.(Thr866=)	NC_000004.11:g.79285084C>T	(Likely) benign	3 labs	7e4944f495
1:2161003 SKI C>T	1	2161003	2161003	C	T	SKI	c.798C>T	NM_003036.4	NP_003027.1:p.(Ala266=)	NC_000001.10:g.2161003C>T	(Likely) benign	2 labs	7e4d21c5c0
X:49179739 GAGE12J A>G	X	49179739	49179739	A	G	GAGE12J	c.67A>G	NM_001098406.2	NP_001091876.2:p.(Met23Val)	NC_000023.10:g.49179739A>G	(Likely) benign	2 labs	7e55996457
16:1263819 CACNA1H C>T	16	1263819	1263819	C	T	CACNA1H	c.4817C>T	NM_021098.3	NP_066921.2:p.(Thr1606Met)	NC_000016.9:g.1263819C>T	(Likely) benign	2 labs	7e575637fe
9:107568705 ABCA1 C>T	9	107568705	107568705	C	T	ABCA1	c.4281G>A	NM_005502.4	NP_005493.2:p.(Thr1427=)	NC_000009.11:g.107568705C>T	(Likely) benign	2 labs	7e6181a0d1
10:71128327 HK1 G>A	10	71128327	71128327	G	A	HK1	c.495G>A	NM_033500.2	NP_277035.2:p.(Ala165=)	NC_000010.10:g.71128327G>A	(Likely) benign	2 labs	7e69d04277
8:38271433 FGFR1 T>C	8	38271433	38271433	T	C	FGFR1	c.2292+3A>G	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38271433T>C	(Likely) benign	2 labs	7e6d2ccc83
1:237806763 RYR2 A>G	1	237806763	237806763	A	G	RYR2	c.7342+16A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237806763A>G	(Likely) benign	2 labs	7e6fecae3f
9:14737460 FREM1 C>T	9	14737460	14737460	C	T	FREM1	c.6474G>A	NM_144966.7	NP_659403.4:p.(Gly2158=)	NC_000009.11:g.14737460C>T	(Likely) benign	2 labs	7e7426f8a8
16:27455886 IL21R A>G	16	27455886	27455886	A	G	IL21R	c.531A>G	NM_021798.4	NP_068570.1:p.(Ser177=)	NC_000016.9:g.27455886A>G	(Likely) benign	2 labs	7e7a2622fb
2:21242796 APOB A>C	2	21242796	21242796	A	C	APOB	c.2817-19T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242796A>C	(Likely) benign	2 labs	7e81142341
11:22248832 ANO5 CT>C	11	22248832	22248840	CT	C	ANO5	c.364-8del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22248840del	(Likely) benign	2 labs	7e936d8edc
7:33391173 BBS9 T>C	7	33391173	33391173	T	C	BBS9	c.1537+238T>C	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33391173T>C	(Likely) benign	2 labs	7e895b6e8e
X:47755278 ZNF81 G>A	X	47755278	47755278	G	A	ZNF81	c.216G>A	NM_007137.5	NP_009068.2:p.(Lys72=)	NC_000023.10:g.47755278G>A	(Likely) benign	2 labs	7e91c51e05
16:51171175 SALL1 C>T	16	51171175	51171175	C	T	SALL1	c.3532G>A	NM_001127892.2	NP_001121364.1:p.(Val1178Ile)	NC_000016.9:g.51171175C>T	(Likely) benign	4 labs	7e9b762d3b
11:108122700 ATM T>C	11	108122700	108122700	T	C	ATM	c.1744T>C	NM_000051.4	NP_000042.3:p.(Phe582Leu)	NC_000011.9:g.108122700T>C	(Likely) benign	6 labs	7e9db7d944
11:76918415 MYO7A G>T	11	76918415	76918415	G	T	MYO7A	c.5824G>T	NM_000260.4	NP_000251.3:p.(Gly1942Ter)	NC_000011.9:g.76918415G>T	(Likely) pathogenic	2 labs	7ea2a202ce
12:32949242 PKP2 G>GA	12	32949242	32949252	G	GA	PKP2	c.2300-11dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949252dup	(Likely) benign	4 labs	7ea92f31b3
2:179517458 TTN C>T	2	179517458	179517458	C	T	TTN	c.38965G>A	NM_001267550.2	NP_001254479.2:p.(Glu12989Lys)	NC_000002.11:g.179517458C>T	VUS	2 labs	7eae1c660e
12:112892360 PTPN11 C>A	12	112892360	112892360	C	A	PTPN11	c.526-8C>A	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112892360C>A	(Likely) benign	4 labs	7eae26601c
12:125298855 SCARB1 T>C	12	125298855	125298855	T	C	SCARB1	c.523A>G	NM_005505.5	NP_005496.4:p.(Thr175Ala)	NC_000012.11:g.125298855T>C	VUS	2 labs	7eb2f564a0
13:32913106 BRCA2 T>C	13	32913106	32913106	T	C	BRCA2	c.4614T>C	NM_000059.4	NP_000050.3:p.(Ser1538=)	NC_000013.10:g.32913106T>C	(Likely) benign	4 labs	7eb7d5a5ec
1:46657799 POMGNT1 C>T	1	46657799	46657799	C	T	POMGNT1	c.1510G>A	NM_001243766.2	NP_001230695.2:p.(Val504Ile)	NC_000001.10:g.46657799C>T	(Likely) benign	2 labs	7ec55df07d
9:108366734 FKTN G>A	9	108366734	108366734	G	A	FKTN	c.608G>A	NM_001079802.2	NP_001073270.1:p.(Arg203Gln)	NC_000009.11:g.108366734G>A	(Likely) benign	4 labs	7ed56eb907
1:43394873 SLC2A1 AG>A	1	43394873	43394874	AG	A	SLC2A1	c.972+7del	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43394874del	(Likely) benign	3 labs	7ed427f65b
17:78055723 CCDC40 C>T	17	78055723	78055723	C	T	CCDC40	c.1855C>T	NM_017950.4	NP_060420.2:p.(Gln619Ter)	NC_000017.10:g.78055723C>T	(Likely) pathogenic	2 labs	7ed8ca206f
15:72104825 NR2E3 TTC>T	15	72104825	72104829	TTC	T	NR2E3	c.724_725del	NM_016346.4	NP_057430.1:p.(Ser242GlnfsTer17)	NC_000015.9:g.72104828_72104829del	(Likely) pathogenic	2 labs	7edacbe749
X:32591647 DMD G>A	X	32591647	32591647	G	A	DMD	c.1812C>T	NM_004006.3	NP_003997.2:p.(Ala604=)	NC_000023.10:g.32591647G>A	(Likely) benign	2 labs	7edcedc6b7
16:15818653 MYH11 G>A	16	15818653	15818653	G	A	MYH11	c.3988C>T	NM_001040113.2	NP_001035202.1:p.(Leu1330=)	NC_000016.9:g.15818653G>A	(Likely) benign	2 labs	7ede79b9e3
9:133760106 ABL1 C>T	9	133760106	133760106	C	T	ABL1	c.2429C>T	NM_005157.6	NP_005148.2:p.(Pro810Leu)	NC_000009.11:g.133760106C>T	(Likely) benign	2 labs	7edec8fb7f
4:6303052 WFS1 C>T	4	6303052	6303052	C	T	WFS1	c.1530C>T	NM_006005.3	NP_005996.2:p.(Tyr510=)	NC_000004.11:g.6303052C>T	(Likely) benign	2 labs	7eeb9292db
10:52913038 PRKG1 C>T	10	52913038	52913038	C	T	PRKG1	c.381C>T	NM_001098512.3	NP_001091982.1:p.(Asp127=)	NC_000010.10:g.52913038C>T	(Likely) benign	3 labs	7ef46b343c
17:41244935 BRCA1 C>T	17	41244935	41244935	C	T	BRCA1	c.2613G>A	NM_007294.4	NP_009225.1:p.(Pro871=)	NC_000017.10:g.41244935C>T	(Likely) benign	3 labs	7ef82310a1
13:32937302 BRCA2 G>A	13	32937302	32937302	G	A	BRCA2	c.7977-14G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937302G>A	(Likely) benign	5 labs	7eff706560
2:179640850 TTN G>A	2	179640850	179640850	G	A	TTN	c.5741C>T	NM_001267550.2	NP_001254479.2:p.(Ala1914Val)	NC_000002.11:g.179640850G>A	VUS	3 labs	7f0be02848
12:22040886 ABCC9 C>T	12	22040886	22040886	C	T	ABCC9	c.1803-18G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22040886C>T	(Likely) benign	2 labs	7f0f9f8475
14:21899347 CHD8 T>C	14	21899347	21899347	T	C	CHD8	c.456A>G	NM_001170629.2	NP_001164100.1:p.(Pro152=)	NC_000014.8:g.21899347T>C	(Likely) benign	3 labs	7f19558c39
16:57996738 CNGB1 G>T	16	57996738	57996738	G	T	CNGB1	c.412+8C>A	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57996738G>T	(Likely) benign	2 labs	7f1a8434c8
16:68732050 CDH3 G>T	16	68732050	68732050	G	T	CDH3	c.2335G>T	NM_001317195.3	NP_001304124.1:p.(Gly779Cys)	NC_000016.9:g.68732050G>T	(Likely) benign	2 labs	7f1c044404
3:38639186 SCN5A GC>G	3	38639186	38639189	GC	G	SCN5A	c.2262+33del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38639189del	(Likely) benign	2 labs	7f243b7d16
17:39914699 JUP C>A	17	39914699	39914699	C	A	JUP	c.1725G>T	NM_001352773.2	NP_001339702.1:p.(Met575Ile)	NC_000017.10:g.39914699C>A	VUS	2 labs	7f29a4a2f3
7:103629803 RELN T>TGCCGCCGCCGCC	7	103629803	103629829	T	TGCCGCCGCCGCC	RELN	c.-12_-1dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629818_103629829dup	(Likely) benign	2 labs	7f43ffeada
2:179575470 TTN C>G	2	179575470	179575470	C	G	TTN	c.28354G>C	NM_001267550.2	NP_001254479.2:p.(Ala9452Pro)	NC_000002.11:g.179575470C>G	VUS	2 labs	7f45909df4
2:217279554 SMARCAL1 G>A	2	217279554	217279554	G	A	SMARCAL1	c.127G>A	NM_014140.4	NP_054859.2:p.(Ala43Thr)	NC_000002.11:g.217279554G>A	(Likely) benign	3 labs	7f4d394ed7
11:108196959 ATM T>A	11	108196959	108196959	T	A	ATM	c.6975+7T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196959T>A	(Likely) benign	2 labs	7f50216867
5:60628153 ZSWIM6 GGGCGGC>G	5	60628153	60628173	GGGCGGC	G	ZSWIM6	c.69_74del	NM_020928.2	NP_065979.1:p.(Gly25_Gly26del)	NC_000005.9:g.60628168_60628173del	(Likely) benign	2 labs	7f53c7e74a
6:7542236 DSP G>A	6	7542236	7542236	G	A	DSP	c.88G>A	NM_004415.4	NP_004406.2:p.(Val30Met)	NC_000006.11:g.7542236G>A	(Likely) benign	6 labs	7f6c69c1cb
6:100061120 PRDM13 C>T	6	100061120	100061120	C	T	PRDM13	c.609C>T	NM_021620.4	NP_067633.2:p.(Ser203=)	NC_000006.11:g.100061120C>T	(Likely) benign	2 labs	7f617ab231
7:6018249 PMS2 A>G	7	6018249	6018249	A	G	PMS2	c.2253T>C	NM_000535.7	NP_000526.2:p.(Phe751=)	NC_000007.13:g.6018249A>G	(Likely) benign	5 labs	7f6a09e6d7
17:59821818 BRIP1 G>A	17	59821818	59821818	G	A	BRIP1	c.2232C>T	NM_032043.3	NP_114432.2:p.(Asp744=)	NC_000017.10:g.59821818G>A	(Likely) benign	2 labs	7f6d4ae2ad
15:23889739 MAGEL2 G>T	15	23889739	23889739	G	T	MAGEL2	c.3151C>A	NM_019066.5	NP_061939.3:p.(Leu1051Ile)	NC_000015.9:g.23889739G>T	(Likely) benign	3 labs	7f78988ff8
15:48722902 FBN1 C>T	15	48722902	48722902	C	T	FBN1	c.6837G>A	NM_000138.5	NP_000129.3:p.(Gly2279=)	NC_000015.9:g.48722902C>T	(Likely) benign	2 labs	7f7957ca6a
7:124503610 POT1 T>C	7	124503610	124503610	T	C	POT1	c.340A>G	NM_015450.3	NP_056265.2:p.(Ile114Val)	NC_000007.13:g.124503610T>C	(Likely) benign	2 labs	7f82b6d9ff
17:48270355 COL1A1 G>A	17	48270355	48270355	G	A	COL1A1	c.1821C>T	NM_000088.4	NP_000079.2:p.(Val607=)	NC_000017.10:g.48270355G>A	(Likely) benign	2 labs	7f83e5aa98
2:179654792 TTN T>G	2	179654792	179654792	T	G	TTN	c.1851A>C	NM_001267550.2	NP_001254479.2:p.(Thr617=)	NC_000002.11:g.179654792T>G	(Likely) benign	2 labs	7f93e8a259
8:42295019 SLC20A2 G>T	8	42295019	42295019	G	T	SLC20A2	c.1011C>A	NM_001257180.2	NP_001244109.1:p.(Thr337=)	NC_000008.10:g.42295019G>T	(Likely) benign	2 labs	7f98618868
5:148384346 SH3TC2 C>G	5	148384346	148384346	C	G	SH3TC2	c.3795G>C	NM_024577.4	NP_078853.2:p.(Leu1265=)	NC_000005.9:g.148384346C>G	(Likely) benign	2 labs	7fa6a5c5f1
11:68682483 IGHMBP2 C>T	11	68682483	68682483	C	T	IGHMBP2	c.904C>T	NM_002180.3	NP_002171.2:p.(Gln302Ter)	NC_000011.9:g.68682483C>T	(Likely) pathogenic	2 labs	7fae293868
18:19429343 MIB1 G>A	18	19429343	19429343	G	A	MIB1	c.2580G>A	NM_020774.4	NP_065825.1:p.(Arg860=)	NC_000018.9:g.19429343G>A	(Likely) benign	2 labs	7fb22a5700
2:62066637 FAM161A CA>C	2	62066637	62066638	CA	C	FAM161A	c.1501del	NM_001201543.2	NP_001188472.1:p.(Cys501ValfsTer4)	NC_000002.11:g.62066638del	(Likely) pathogenic	2 labs	7fbb82c90e
5:68692375 RAD17 T>TA	5	68692375	68692392	T	TA	RAD17	c.1572+19dup	NM_002873.1	NP_002864.1:p.?	NC_000005.9:g.68692392dup	(Likely) benign	2 labs	7fbd39182d
17:63221563 RGS9 G>C	17	63221563	63221563	G	C	RGS9	c.1851G>C	NM_003835.4	NP_003826.2:p.(Val617=)	NC_000017.10:g.63221563G>C	(Likely) benign	2 labs	7fc64a6d4c
21:38309459 HLCS C>T	21	38309459	38309459	C	T	HLCS	c.286G>A	NM_001242784.3	NP_001229713.1:p.(Val96Ile)	NC_000021.8:g.38309459C>T	(Likely) benign	2 labs	7fc6a5503f
3:48603767 COL7A1 A>G	3	48603767	48603767	A	G	COL7A1	c.8359-19T>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48603767A>G	(Likely) benign	2 labs	7fc6f0bda3
1:11190730 MTOR G>A	1	11190730	11190730	G	A	MTOR	c.5469C>T	NM_004958.4	NP_004949.1:p.(Ala1823=)	NC_000001.10:g.11190730G>A	(Likely) benign	2 labs	7fda438f53
9:107580974 ABCA1 G>A	9	107580974	107580974	G	A	ABCA1	c.3432C>T	NM_005502.4	NP_005493.2:p.(Asn1144=)	NC_000009.11:g.107580974G>A	(Likely) benign	2 labs	7feff7bb34
4:15569298 CC2D2A AG>A	4	15569298	15569300	AG	A	CC2D2A	c.3289del	NM_001080522.2	NP_001073991.2:p.(Val1097PhefsTer2)	NC_000004.11:g.15569300del	(Likely) pathogenic	5 labs	7ff4fe65ed
6:123786032 TRDN GA>G	6	123786032	123786042	GA	G	TRDN	c.889del	NM_001256020.2	NP_001242949.1:p.(Ser297LeufsTer8)	NC_000006.11:g.123786042del	(Likely) benign	2 labs	7ff2ecda5d
2:47672671 MSH2 T>C	2	47672671	47672671	T	C	MSH2	c.1277-16T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47672671T>C	(Likely) benign	2 labs	7ff37f885e
6:157099402 ARID1B C>CCAGCAGCAGCAGCAGCAGCAGCAA	6	157099402	157099455	C	CCAGCAGCAGCAGCAGCAGCAGCAA	ARID1B	c.618_641dup	NM_001371656.1	NP_001358585.1:p.(Gln207_Gln214dup)	NC_000006.11:g.157099432_157099455dup	(Likely) benign	2 labs	800a56b25d
2:179522874 TTN A>G	2	179522874	179522874	A	G	TTN	c.31741+858T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179522874A>G	(Likely) benign	2 labs	800c13972a
1:11298038 MTOR C>T	1	11298038	11298038	C	T	MTOR	c.2070G>A	NM_004958.4	NP_004949.1:p.(Ala690=)	NC_000001.10:g.11298038C>T	(Likely) benign	2 labs	8024ed450c
1:237829804 RYR2 T>TG	1	237829804	237829805	T	TG	RYR2	c.8437-7dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237829805dup	(Likely) benign	3 labs	8027c27dad
17:78090891 GAA T>C	17	78090891	78090891	T	C	GAA	c.2314T>C	NM_000152.5	NP_000143.2:p.(Trp772Arg)	NC_000017.10:g.78090891T>C	(Likely) pathogenic	2 labs	802d8ee3f5
10:102777931 PDZD7 C>T	10	102777931	102777931	C	T	PDZD7	c.1447G>A	NM_001195263.2	NP_001182192.1:p.(Asp483Asn)	NC_000010.10:g.102777931C>T	(Likely) benign	2 labs	803afdccb7
11:6643664 DCHS1 G>A	11	6643664	6643664	G	A	DCHS1	c.9243C>T	NM_003737.4	NP_003728.1:p.(Cys3081=)	NC_000011.9:g.6643664G>A	(Likely) benign	2 labs	803c56b2ec
7:91727487 AKAP9 A>G	7	91727487	91727487	A	G	AKAP9	c.10672A>G	NM_005751.5	NP_005742.4:p.(Ile3558Val)	NC_000007.13:g.91727487A>G	(Likely) benign	2 labs	804396ffbb
1:59139251 MYSM1 C>T	1	59139251	59139251	C	T	MYSM1	c.1566G>A	NM_001085487.3	NP_001078956.1:p.(Thr522=)	NC_000001.10:g.59139251C>T	(Likely) benign	2 labs	8044d5bd38
12:64878200 TBK1 C>T	12	64878200	64878200	C	T	TBK1	c.1110C>T	NM_013254.4	NP_037386.1:p.(Phe370=)	NC_000012.11:g.64878200C>T	(Likely) benign	3 labs	8046196848
12:9004397 A2ML1 C>T	12	9004397	9004397	C	T	A2ML1	c.2252C>T	NM_144670.6	NP_653271.3:p.(Ala751Val)	NC_000012.11:g.9004397C>T	(Likely) benign	2 labs	804ab144fb
2:73959834 TPRKB CA>C	2	73959834	73959848	CA	C	TPRKB	c.142-423del	NM_016058.5	NP_057142.1:p.?	NC_000002.11:g.73959848del	(Likely) benign	2 labs	80469fe4f6
13:32929140 BRCA2 C>A	13	32929140	32929140	C	A	BRCA2	c.7150C>A	NM_000059.4	NP_000050.3:p.(Gln2384Lys)	NC_000013.10:g.32929140C>A	(Likely) benign	5 labs	80566d927e
17:1674431 SERPINF1 C>A	17	1674431	1674431	C	A	SERPINF1	c.392C>A	NM_002615.7	NP_002606.3:p.(Ala131Asp)	NC_000017.10:g.1674431C>A	(Likely) benign	2 labs	8063ee738f
20:10626044 JAG1 A>G	20	10626044	10626044	A	G	JAG1	c.2073T>C	NM_000214.3	NP_000205.1:p.(Cys691=)	NC_000020.10:g.10626044A>G	(Likely) benign	2 labs	8065136ab8
15:38641715 SPRED1 C>T	15	38641715	38641715	C	T	SPRED1	c.675C>T	NM_152594.3	NP_689807.1:p.(Ser225=)	NC_000015.9:g.38641715C>T	(Likely) benign	4 labs	8065959e3c
1:94495071 ABCA4 C>T	1	94495071	94495071	C	T	ABCA4	c.4469G>A	NM_000350.3	NP_000341.2:p.(Cys1490Tyr)	NC_000001.10:g.94495071C>T	(Likely) pathogenic	3 labs	80838bd4c6
6:135679271 AHI1 G>A	6	135679271	135679271	G	A	AHI1	c.3164C>T	NM_001134831.2	NP_001128303.1:p.(Thr1055Met)	NC_000006.11:g.135679271G>A	(Likely) benign	2 labs	8083d33664
1:66067306 LEPR C>A	1	66067306	66067306	C	A	LEPR	c.1226C>A	NM_001003679.3	NP_001003679.1:p.(Ala409Glu)	NC_000001.10:g.66067306C>A	(Likely) pathogenic	2 labs	808abf1740
19:2109937 AP3D1 G>A	19	2109937	2109937	G	A	AP3D1	c.3285C>T	NM_001261826.3	NP_001248755.1:p.(His1095=)	NC_000019.9:g.2109937G>A	(Likely) benign	3 labs	8091388b89
3:178916937 PIK3CA TGAA>T	3	178916937	178916943	TGAA	T	PIK3CA	c.328_330del	NM_006218.4	NP_006209.2:p.(Glu110del)	NC_000003.11:g.178916941_178916943del	(Likely) pathogenic	2 labs	80afd6dad1
2:121747571 GLI2 G>T	2	121747571	121747571	G	T	GLI2	c.4081G>T	NM_005270.5	NP_005261.2:p.(Val1361Leu)	NC_000002.11:g.121747571G>T	(Likely) benign	2 labs	80ca566a79
1:156104965 LMNA T>A	1	156104965	156104965	T	A	LMNA	c.811-13T>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104965T>A	(Likely) benign	6 labs	80bf79b2cb
7:42018336 GLI3 G>A	7	42018336	42018336	G	A	GLI3	c.1509C>T	NM_000168.6	NP_000159.3:p.(Asn503=)	NC_000007.13:g.42018336G>A	(Likely) benign	3 labs	80c34500bf
6:16327915 ATXN1 A>ATGCTGC	6	16327915	16327955	A	ATGCTGC	ATXN1	c.621_626dup	NM_000332.3	NP_000323.2:p.(Gln207_Gln208dup)	NC_000006.11:g.16327950_16327955dup	(Likely) benign	2 labs	80c3e8a926
X:135095545 SLC9A6 A>C	X	135095545	135095545	A	C	SLC9A6	c.1185A>C	NM_001042537.2	NP_001036002.1:p.(Ala395=)	NC_000023.10:g.135095545A>C	(Likely) benign	2 labs	80c44056a9
9:133760593 ABL1 G>A	9	133760593	133760593	G	A	ABL1	c.2916G>A	NM_005157.6	NP_005148.2:p.(Ser972=)	NC_000009.11:g.133760593G>A	(Likely) benign	2 labs	80df439faa
9:113547944 MUSK T>C	9	113547944	113547944	T	C	MUSK	c.1724T>C	NM_005592.4	NP_005583.1:p.(Ile575Thr)	NC_000009.11:g.113547944T>C	(Likely) pathogenic	2 labs	80e917b26b
2:238234285 COL6A3 A>G	2	238234285	238234285	A	G	COL6A3	c.9411T>C	NM_004369.4	NP_004360.2:p.(Cys3137=)	NC_000002.11:g.238234285A>G	(Likely) benign	3 labs	80ea4457bc
6:119136710 MCM9 T>C	6	119136710	119136710	T	C	MCM9	c.2709A>G	NM_017696.3	NP_060166.2:p.(Glu903=)	NC_000006.11:g.119136710T>C	(Likely) benign	2 labs	80eb391fa0
X:71681927 HDAC8 G>A	X	71681927	71681927	G	A	HDAC8	c.932C>T	NM_018486.3	NP_060956.1:p.(Thr311Met)	NC_000023.10:g.71681927G>A	(Likely) pathogenic	2 labs	80ed9493a2
11:68704310 IGHMBP2 C>T	11	68704310	68704310	C	T	IGHMBP2	c.2362C>T	NM_002180.3	NP_002171.2:p.(Arg788Ter)	NC_000011.9:g.68704310C>T	(Likely) pathogenic	2 labs	80f633be69
X:9728823 GPR143 A>G	X	9728823	9728823	A	G	GPR143	c.294T>C	NM_000273.3	NP_000264.2:p.(Phe98=)	NC_000023.10:g.9728823A>G	(Likely) benign	2 labs	80fdc8eb72
1:237870340 RYR2 C>T	1	237870340	237870340	C	T	RYR2	c.9672C>T	NM_001035.3	NP_001026.2:p.(Ser3224=)	NC_000001.10:g.237870340C>T	(Likely) benign	4 labs	8103c1e464
18:25727631 CDH2 T>G	18	25727631	25727631	T	G	CDH2	c.172+6A>C	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25727631T>G	(Likely) benign	2 labs	81050a9749
1:35250627 GJB3 G>A	1	35250627	35250627	G	A	GJB3	c.264G>A	NM_024009.3	NP_076872.1:p.(Ser88=)	NC_000001.10:g.35250627G>A	(Likely) benign	2 labs	811b4b0ac6
2:238277573 COL6A3 C>A	2	238277573	238277573	C	A	COL6A3	c.4533G>T	NM_004369.4	NP_004360.2:p.(Gly1511=)	NC_000002.11:g.238277573C>A	(Likely) benign	3 labs	811c1a9f38
8:100568664 VPS13B C>T	8	100568664	100568664	C	T	VPS13B	c.4821-14C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100568664C>T	(Likely) benign	3 labs	8122968242
7:151573580 PRKAG2 G>A	7	151573580	151573580	G	A	PRKAG2	c.114+12C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151573580G>A	(Likely) benign	2 labs	812df632d2
16:83940584 MLYCD C>T	16	83940584	83940584	C	T	MLYCD	c.529-8C>T	NM_012213.3	NP_036345.2:p.?	NC_000016.9:g.83940584C>T	(Likely) benign	2 labs	813050e361
5:149450038 CSF1R C>T	5	149450038	149450038	C	T	CSF1R	c.1179G>A	NM_005211.4	NP_005202.2:p.(Thr393=)	NC_000005.9:g.149450038C>T	(Likely) benign	3 labs	81369f3bde
6:129691132 LAMA2 C>G	6	129691132	129691132	C	G	LAMA2	c.4956C>G	NM_000426.4	NP_000417.3:p.(Thr1652=)	NC_000006.11:g.129691132C>G	(Likely) benign	2 labs	813a1fc6dc
3:154832779 MME G>C	3	154832779	154832779	G	C	MME	c.197-4G>C	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154832779G>C	(Likely) benign	2 labs	813c474e62
13:32900712 BRCA2 T>TAGCTA	13	32900712	32900717	T	TAGCTA	BRCA2	c.594_598dup	NM_000059.4	NP_000050.3:p.(Thr200LysfsTer13)	NC_000013.10:g.32900713_32900717dup	(Likely) pathogenic	2 labs	813e12f991
2:179462367 TTN T>C	2	179462367	179462367	T	C	TTN	c.57442A>G	NM_001267550.2	NP_001254479.2:p.(Met19148Val)	NC_000002.11:g.179462367T>C	(Likely) benign	6 labs	8148a66368
17:4804109 CHRNE A>G	17	4804109	4804109	A	G	CHRNE	c.896T>C	NM_000080.4	NP_000071.1:p.(Leu299Pro)	NC_000017.10:g.4804109A>G	VUS	2 labs	81436ceebc
4:39226486 WDR19 AT>A	4	39226486	39226501	AT	A	WDR19	c.1480-3del	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39226501del	(Likely) benign	3 labs	814fa1c2f5
7:91690582 AKAP9 T>C	7	91690582	91690582	T	C	AKAP9	c.5610T>C	NM_005751.5	NP_005742.4:p.(His1870=)	NC_000007.13:g.91690582T>C	(Likely) benign	2 labs	814ff2bc24
1:38173983 CDCA8 TTTC>T	1	38173983	38173988	TTTC	T	CDCA8	c.799-8_799-6del	NM_001256875.2	NP_001243804.1:p.?	NC_000001.10:g.38173986_38173988del	(Likely) benign	2 labs	8150644abd
12:110017618 MVK G>A	12	110017618	110017618	G	A	MVK	c.238G>A	NM_000431.4	NP_000422.1:p.(Val80Ile)	NC_000012.11:g.110017618G>A	(Likely) benign	3 labs	8151549100
14:23863430 MYH6 G>A	14	23863430	23863430	G	A	MYH6	c.2532C>T	NM_002471.4	NP_002462.2:p.(Ser844=)	NC_000014.8:g.23863430G>A	(Likely) benign	2 labs	816246c925
11:1780867 CTSD G>A	11	1780867	1780867	G	A	CTSD	c.231C>T	NM_001909.5	NP_001900.1:p.(Ala77=)	NC_000011.9:g.1780867G>A	(Likely) benign	2 labs	8165b8a7a2
1:180794046 XPR1 G>A	1	180794046	180794046	G	A	XPR1	c.921G>A	NM_004736.4	NP_004727.2:p.(Pro307=)	NC_000001.10:g.180794046G>A	(Likely) benign	2 labs	816e8f333d
2:182413580 CERKL A>G	2	182413580	182413580	A	G	CERKL	c.978T>C	NM_001030311.3	NP_001025482.1:p.(His326=)	NC_000002.11:g.182413580A>G	(Likely) benign	2 labs	816fe970bb
11:5248050 HBB C>T	11	5248050	5248050	C	T	HBB	c.93-21G>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5248050C>T	(Likely) pathogenic	2 labs	8171408c8f
16:88799674 PIEZO1 G>C	16	88799674	88799674	G	C	PIEZO1	c.2664+12C>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799674G>C	(Likely) benign	2 labs	817929c1e0
4:1806633 FGFR3 C>T	4	1806633	1806633	C	T	FGFR3	c.1349C>T	NM_000142.5	NP_000133.1:p.(Thr450Met)	NC_000004.11:g.1806633C>T	(Likely) benign	3 labs	81799a7e48
13:32972493 BRCA2 A>G	13	32972493	32972493	A	G	BRCA2	c.9843A>G	NM_000059.4	NP_000050.3:p.(Pro3281=)	NC_000013.10:g.32972493A>G	(Likely) benign	2 labs	817d7461aa
2:179596980 TTN T>C	2	179596980	179596980	T	C	TTN	c.12984A>G	NM_133378.4	NP_596869.4:p.(Pro4328=)	NC_000002.11:g.179596980T>C	(Likely) benign	2 labs	817ec00e5d
14:23282336 SLC7A7 G>A	14	23282336	23282336	G	A	SLC7A7	c.272C>T	NM_001126106.4	NP_001119578.1:p.(Ala91Val)	NC_000014.8:g.23282336G>A	(Likely) benign	2 labs	817fc15064
2:179443923 TTN C>T	2	179443923	179443923	C	T	TTN	c.67834G>A	NM_001267550.2	NP_001254479.2:p.(Asp22612Asn)	NC_000002.11:g.179443923C>T	VUS	2 labs	81828bb98f
15:62207911 VPS13C A>G	15	62207911	62207911	A	G	VPS13C	c.8366T>C	NM_020821.3	NP_065872.1:p.(Ile2789Thr)	NC_000015.9:g.62207911A>G	(Likely) benign	2 labs	818398169e
1:5969280 NPHP4 G>A	1	5969280	5969280	G	A	NPHP4	c.1442-7C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5969280G>A	(Likely) benign	2 labs	81876ce46e
7:81591353 CACNA2D1 G>C	7	81591353	81591353	G	C	CACNA2D1	c.2873-14C>G	NM_001366867.1	NP_001353796.1:p.?	NC_000007.13:g.81591353G>C	(Likely) benign	2 labs	8191779926
2:179419595 TTN G>A	2	179419595	179419595	G	A	TTN	c.88591C>T	NM_001267550.2	NP_001254479.2:p.(Leu29531Phe)	NC_000002.11:g.179419595G>A	VUS	2 labs	8197486054
7:107545910 DLD A>T	7	107545910	107545910	A	T	DLD	c.543A>T	NM_000108.5	NP_000099.2:p.(Ile181=)	NC_000007.13:g.107545910A>T	(Likely) benign	3 labs	81ac19d99f
9:80851301 CEP78 C>T	9	80851301	80851301	C	T	CEP78	c.35C>T	NM_001349839.2	NP_001336768.1:p.(Ala12Val)	NC_000009.11:g.80851301C>T	(Likely) benign	2 labs	81ae002222
7:150655174 KCNH2 G>A	7	150655174	150655174	G	A	KCNH2	c.889C>T	NM_000238.4	NP_000229.1:p.(Pro297Ser)	NC_000007.13:g.150655174G>A	VUS	2 labs	81aefcab2b
1:11906068 NPPA A>G	1	11906068	11906068	A	G	NPPA				NC_000001.10:g.11906068A>G	(Likely) benign	2 labs	cc8bca8017
15:28326863 OCA2 CT>C	15	28326863	28326864	CT	C	OCA2	c.157del	NM_000275.3	NP_000266.2:p.(Arg53GlyfsTer49)	NC_000015.9:g.28326864del	(Likely) pathogenic	2 labs	81c313b229
11:61724458 BEST1 G>A	11	61724458	61724458	G	A	BEST1	c.444G>A	NM_001139443.2	NP_001132915.1:p.(Gln148=)	NC_000011.9:g.61724458G>A	(Likely) benign	2 labs	81ca6fa175
10:75834646 VCL T>C	10	75834646	75834646	T	C	VCL	c.768T>C	NM_014000.3	NP_054706.1:p.(Asp256=)	NC_000010.10:g.75834646T>C	(Likely) benign	4 labs	81ccbffb13
4:126370100 FAT4 C>T	4	126370100	126370100	C	T	FAT4	c.7935C>T	NM_001291303.3	NP_001278232.1:p.(Asp2645=)	NC_000004.11:g.126370100C>T	(Likely) benign	4 labs	81ce10dbb4
13:32914912 BRCA2 T>TA	13	32914912	32914913	T	TA	BRCA2	c.6420_6421insA	NM_000059.4	NP_000050.3:p.(Gly2141ArgfsTer6)	NC_000013.10:g.32914912_32914913insA	(Likely) pathogenic	5 labs	81d456e57e
10:75830746 VCL T>C	10	75830746	75830746	T	C	VCL	c.404T>C	NM_003373.4	NP_003364.1:p.(Ile135Thr)	NC_000010.10:g.75830746T>C	(Likely) benign	2 labs	81d5b6f8f7
3:193364951 OPA1 C>T	3	193364951	193364951	C	T	OPA1	c.1852C>T	NM_130837.3	NP_570850.2:p.(Gln618Ter)	NC_000003.11:g.193364951C>T	(Likely) pathogenic	2 labs	81e44c798a
7:81624232 CACNA2D1 C>G	7	81624232	81624232	C	G	CACNA2D1	c.1686G>C	NM_000722.4	NP_000713.2:p.(Gly562=)	NC_000007.13:g.81624232C>G	(Likely) benign	2 labs	81e70141ca
1:116936329 ATP1A1 C>T	1	116936329	116936329	C	T	ATP1A1	c.1644C>T	NM_001160233.2	NP_001153705.1:p.(Leu548=)	NC_000001.10:g.116936329C>T	(Likely) benign	2 labs	81e7023a8e
1:216462658 USH2A T>A	1	216462658	216462658	T	A	USH2A	c.1935A>T	NM_206933.4	NP_996816.3:p.(Thr645=)	NC_000001.10:g.216462658T>A	(Likely) benign	2 labs	81e8f0411f
3:38651274 SCN5A C>T	3	38651274	38651274	C	T	SCN5A	c.885G>A	NM_001099404.2	NP_001092874.1:p.(Glu295=)	NC_000003.11:g.38651274C>T	(Likely) benign	3 labs	81f572af20
5:112174750 APC TGAA>T	5	112174750	112174761	TGAA	T	APC	c.3468_3470del	NM_000038.6	NP_000029.2:p.(Glu1157del)	NC_000005.9:g.112174759_112174761del	(Likely) benign	3 labs	8200c73469
20:54824557 MC3R C>A	20	54824557	54824557	C	A	MC3R	c.658C>A	NM_019888.3	NP_063941.3:p.(Arg220Ser)	NC_000020.10:g.54824557C>A	(Likely) benign	2 labs	82061d5d9f
2:179638834 TTN C>T	2	179638834	179638834	C	T	TTN	c.7061G>A	NM_001267550.2	NP_001254479.2:p.(Arg2354His)	NC_000002.11:g.179638834C>T	(Likely) benign	4 labs	821b6f9839
22:29121266 CHEK2 G>A	22	29121266	29121266	G	A	CHEK2	c.409C>T	NM_007194.4	NP_009125.1:p.(Arg137Ter)	NC_000022.10:g.29121266G>A	(Likely) pathogenic	3 labs	821d4153b2
3:38674589 SCN5A A>C	3	38674589	38674589	A	C	SCN5A	c.210T>G	NM_001099404.2	NP_001092874.1:p.(Asn70Lys)	NC_000003.11:g.38674589A>C	VUS	2 labs	822d4afb93
14:90499510 TDP1 A>G	14	90499510	90499510	A	G	TDP1	c.1705A>G	NM_018319.4	NP_060789.2:p.(Thr569Ala)	NC_000014.8:g.90499510A>G	(Likely) benign	3 labs	8236d65691
17:48272623 COL1A1 G>A	17	48272623	48272623	G	A	COL1A1	c.1269C>T	NM_000088.4	NP_000079.2:p.(Pro423=)	NC_000017.10:g.48272623G>A	(Likely) benign	3 labs	823dba1e1f
3:38768082 SCN10A G>A	3	38768082	38768082	G	A	SCN10A	c.3087+15C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38768082G>A	(Likely) benign	2 labs	8247f16fdf
21:38137321 HLCS C>T	21	38137321	38137321	C	T	HLCS	c.1672G>A	NM_001242784.3	NP_001229713.1:p.(Glu558Lys)	NC_000021.8:g.38137321C>T	(Likely) benign	3 labs	824f63c040
14:23876397 MYH6 C>T	14	23876397	23876397	C	T	MYH6	c.36G>A	NM_002471.4	NP_002462.2:p.(Ala12=)	NC_000014.8:g.23876397C>T	(Likely) benign	2 labs	825264be2b
16:72130140 DHX38 G>A	16	72130140	72130140	G	A	DHX38	c.84G>A	NM_014003.4	NP_054722.2:p.(Lys28=)	NC_000016.9:g.72130140G>A	(Likely) benign	2 labs	82580a87db
10:92678740 ANKRD1 AATAAATAAATATATATATATAT>A	10	92678740	92678765	AATAAATAAATATATATATATAT	A	ANKRD1	c.346-33_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678765del	(Likely) benign	3 labs	825ef2606b
2:179443948 TTN C>T	2	179443948	179443948	C	T	TTN	c.67809G>A	NM_001267550.2	NP_001254479.2:p.(Ala22603=)	NC_000002.11:g.179443948C>T	(Likely) benign	2 labs	826bbd077e
3:52485464 TNNC1 TGTC>T	3	52485464	52485470	TGTC	T	TNNC1	c.394_396del	NM_003280.3	NP_003271.1:p.(Asp132del)	NC_000003.11:g.52485468_52485470del	VUS	2 labs	82876d24ff
14:23889372 MYH7 G>A	14	23889372	23889372	G	A	MYH7	c.3408C>T	NM_000257.4	NP_000248.2:p.(Arg1136=)	NC_000014.8:g.23889372G>A	(Likely) benign	2 labs	82816c25a5
22:40746046 ADSL G>A	22	40746046	40746046	G	A	ADSL	c.357+7G>A	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40746046G>A	(Likely) benign	3 labs	8283aa99bf
14:24550504 NRL AG>A	14	24550504	24550505	AG	A	NRL	c.654del	NM_006177.5	NP_006168.1:p.(Cys219ValfsTer4)	NC_000014.8:g.24550505del	(Likely) pathogenic	4 labs	82976f234d
20:49509094 ADNP G>GT	20	49509094	49509095	G	GT	ADNP	c.2156dup	NM_001282531.3	NP_001269460.1:p.(Tyr719Ter)	NC_000020.10:g.49509095dup	(Likely) pathogenic	3 labs	829b024eea
15:100794340 ADAMTS17 C>A	15	100794340	100794340	C	A	ADAMTS17	c.1075+1G>T	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100794340C>A	(Likely) pathogenic	2 labs	829bc53ce7
X:3239828 MXRA5 T>C	X	3239828	3239828	T	C	MXRA5	c.3898A>G	NM_015419.4	NP_056234.2:p.(Arg1300Gly)	NC_000023.10:g.3239828T>C	(Likely) benign	2 labs	829e8eeefb
19:11363475 DOCK6 C>T	19	11363475	11363475	C	T	DOCK6	c.292G>A	NM_020812.4	NP_065863.2:p.(Gly98Arg)	NC_000019.9:g.11363475C>T	(Likely) benign	2 labs	82a104ed12
19:10267077 DNMT1 T>C	19	10267077	10267077	T	C	DNMT1	c.1389A>G	NM_001130823.3	NP_001124295.1:p.(Pro463=)	NC_000019.9:g.10267077T>C	(Likely) benign	3 labs	82aff486e6
11:47371308 MYBPC3 G>A	11	47371308	47371308	G	A	MYBPC3	c.654+17C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371308G>A	(Likely) benign	2 labs	82bc91ff7d
2:212251864 ERBB4 T>C	2	212251864	212251864	T	C	ERBB4	c.3195A>G	NM_005235.3	NP_005226.1:p.(Val1065=)	NC_000002.11:g.212251864T>C	(Likely) benign	2 labs	82c823d289
2:179560973 TTN A>C	2	179560973	179560973	A	C	TTN	c.30826T>G	NM_001267550.2	NP_001254479.2:p.(Ser10276Ala)	NC_000002.11:g.179560973A>C	VUS	3 labs	82dc0246b9
6:7583876 DSP C>T	6	7583876	7583876	C	T	DSP	c.6381C>T	NM_004415.4	NP_004406.2:p.(Ala2127=)	NC_000006.11:g.7583876C>T	(Likely) benign	2 labs	82efd3d2fc
19:11098463 SMARCA4 A>C	19	11098463	11098463	A	C	SMARCA4	c.981A>C	NM_001128844.3	NP_001122316.1:p.(Pro327=)	NC_000019.9:g.11098463A>C	(Likely) benign	3 labs	82f7860927
14:95572075 DICER1 C>T	14	95572075	95572075	C	T	DICER1	c.3033G>A	NM_177438.3	NP_803187.1:p.(Ala1011=)	NC_000014.8:g.95572075C>T	(Likely) benign	3 labs	82fd7808d1
6:112460511 LAMA4 C>T	6	112460511	112460511	C	T	LAMA4	c.3111-18G>A	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112460511C>T	(Likely) benign	2 labs	8304370522
3:154884801 MME G>A	3	154884801	154884801	G	A	MME	c.1771G>A	NM_007289.4	NP_009220.2:p.(Asp591Asn)	NC_000003.11:g.154884801G>A	VUS	2 labs	8304b74864
1:46657847 POMGNT1 G>A	1	46657847	46657847	G	A	POMGNT1	c.1462C>T	NM_017739.4	NP_060209.4:p.(Arg488Ter)	NC_000001.10:g.46657847G>A	(Likely) pathogenic	2 labs	8305d8b5d2
2:233201302 DIS3L2 G>T	2	233201302	233201302	G	T	DIS3L2	c.2620G>T	NM_152383.5	NP_689596.4:p.(Glu874Ter)	NC_000002.11:g.233201302G>T	VUS	2 labs	83065063a6
17:17698254 RAI1 G>A	17	17698254	17698254	G	A	RAI1	c.1992G>A	NM_030665.4	NP_109590.3:p.(Pro664=)	NC_000017.10:g.17698254G>A	(Likely) benign	3 labs	832a857093
7:94038649 COL1A2 G>A	7	94038649	94038649	G	A	COL1A2	c.808G>A	NM_000089.4	NP_000080.2:p.(Val270Ile)	NC_000007.13:g.94038649G>A	(Likely) benign	3 labs	83294ad82c
21:47552385 COL6A2 C>T	21	47552385	47552385	C	T	COL6A2	c.2979C>T	NM_001849.4	NP_001840.3:p.(Arg993=)	NC_000021.8:g.47552385C>T	(Likely) benign	2 labs	832e688ca5
3:38592772 SCN5A G>A	3	38592772	38592772	G	A	SCN5A	c.5091C>T	NM_198056.3	NP_932173.1:p.(Phe1697=)	NC_000003.11:g.38592772G>A	(Likely) benign	3 labs	8330f92036
16:15844048 MYH11 G>A	16	15844048	15844048	G	A	MYH11	c.2026C>T	NM_001040113.2	NP_001035202.1:p.(Arg676Cys)	NC_000016.9:g.15844048G>A	(Likely) benign	4 labs	83343507a4
11:118895980 SLC37A4 CAG>C	11	118895980	118895982	CAG	C	SLC37A4	c.1042_1043del	NM_001164277.1	NP_001157749.1:p.(Leu348ValfsTer53)	NC_000011.9:g.118895981_118895982del	(Likely) pathogenic	3 labs	8339604732
1:78395010 NEXN G>A	1	78395010	78395010	G	A	NEXN	c.874G>A	NM_144573.4	NP_653174.3:p.(Asp292Asn)	NC_000001.10:g.78395010G>A	VUS	2 labs	834896d43f
2:179583317 TTN G>A	2	179583317	179583317	G	A	TTN	c.24516C>T	NM_001267550.2	NP_001254479.2:p.(Thr8172=)	NC_000002.11:g.179583317G>A	(Likely) benign	2 labs	834af30243
3:37067481 MLH1 T>C	3	37067481	37067481	T	C	MLH1	c.1392T>C	NM_000249.4	NP_000240.1:p.(Pro464=)	NC_000003.11:g.37067481T>C	(Likely) benign	2 labs	834d10abcf
8:145742850 RECQL4 T>C	8	145742850	145742850	T	C	RECQL4	c.161A>G	NM_004260.4	NP_004251.4:p.(Gln54Arg)	NC_000008.10:g.145742850T>C	(Likely) benign	4 labs	834e875b83
5:149247313 PDE6A C>T	5	149247313	149247313	C	T	PDE6A	c.2249G>A	NM_000440.3	NP_000431.2:p.(Arg750His)	NC_000005.9:g.149247313C>T	VUS	2 labs	834f8b46f2
6:56426265 DST C>T	6	56426265	56426265	C	T	DST	c.7794G>A	NM_001144769.5	NP_001138241.1:p.(Ala2598=)	NC_000006.11:g.56426265C>T	(Likely) benign	2 labs	834fbd0dea
2:238283464 COL6A3 G>A	2	238283464	238283464	G	A	COL6A3	c.3270C>T	NM_004369.4	NP_004360.2:p.(Asp1090=)	NC_000002.11:g.238283464G>A	(Likely) benign	2 labs	834fefc8e4
16:23619341 PALB2 C>T	16	23619341	23619341	C	T	PALB2	c.3202-8G>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23619341C>T	(Likely) benign	2 labs	83546ad564
2:170082936 LRP2 T>C	2	170082936	170082936	T	C	LRP2	c.5390A>G	NM_004525.3	NP_004516.2:p.(Asn1797Ser)	NC_000002.11:g.170082936T>C	(Likely) benign	3 labs	835b21472b
10:121411212 BAG3 A>G	10	121411212	121411212	A	G	BAG3	c.25A>G	NM_004281.4	NP_004272.2:p.(Met9Val)	NC_000010.10:g.121411212A>G	(Likely) benign	3 labs	835b2bf245
10:68526108 CTNNA3 G>T	10	68526108	68526108	G	T	CTNNA3	c.1195C>A	NM_013266.4	NP_037398.2:p.(Leu399Ile)	NC_000010.10:g.68526108G>T	(Likely) benign	3 labs	835d077204
9:32974493 APTX C>T	9	32974493	32974493	C	T	APTX	c.837G>A	NM_001368999.1	NP_001355928.1:p.(Trp279Ter)	NC_000009.11:g.32974493C>T	(Likely) pathogenic	3 labs	8365cbce9c
2:179463400 TTN C>A	2	179463400	179463400	C	A	TTN	c.56963-19G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463400C>A	(Likely) benign	2 labs	837a3096d1
5:95748189 PCSK1 TTATGCCTGA>T	5	95748189	95748198	TTATGCCTGA	T	PCSK1	c.710-4_714del	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95748190_95748198del	VUS	2 labs	8391247dc0
15:73659809 HCN4 A>T	15	73659809	73659809	A	T	HCN4	c.785+18T>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73659809A>T	(Likely) benign	2 labs	838a624a22
10:73405674 CDH23 G>A	10	73405674	73405674	G	A	CDH23	c.1227G>A	NM_022124.6	NP_071407.4:p.(Ala409=)	NC_000010.10:g.73405674G>A	(Likely) benign	2 labs	838b79a194
5:1258754 TERT C>T	5	1258754	1258754	C	T	TERT	c.2991G>A	NM_198253.3	NP_937983.2:p.(Val997=)	NC_000005.9:g.1258754C>T	(Likely) benign	4 labs	838be47fd2
2:179405007 TTN C>G	2	179405007	179405007	C	G	TTN	c.90182G>C	NM_133378.4	NP_596869.4:p.(Gly30061Ala)	NC_000002.11:g.179405007C>G	VUS	2 labs	838eb5212a
3:123359369 MYLK C>T	3	123359369	123359369	C	T	MYLK	c.4620-18G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123359369C>T	(Likely) benign	3 labs	8398381afe
7:103141351 RELN G>A	7	103141351	103141351	G	A	RELN	c.8508C>T	NM_005045.4	NP_005036.2:p.(Phe2836=)	NC_000007.13:g.103141351G>A	(Likely) benign	2 labs	8398963fb3
20:57429499 GNAS G>GGCAGCCCCT	20	57429499	57429516	G	GGCAGCCCCT	GNAS	c.1001_1009dup	NM_001077490.3	NP_001070958.1:p.(Leu334_Pro336dup)	NC_000020.10:g.57429508_57429516dup	(Likely) benign	3 labs	8398d82963
3:38622757 SCN5A G>A	3	38622757	38622757	G	A	SCN5A	c.2893C>T	NM_198056.3	NP_932173.1:p.(Arg965Cys)	NC_000003.11:g.38622757G>A	(Likely) pathogenic	2 labs	839c84819c
6:112508769 LAMA4 T>G	6	112508769	112508769	T	G	LAMA4	c.849=	NM_001105206.3	NP_001098676.2:p.(Asp283=)	NC_000006.11:g.112508769T>G	(Likely) benign	3 labs	839d157db9
11:75509352 DGAT2 G>A	11	75509352	75509352	G	A	DGAT2	c.890G>A	NM_032564.5	NP_115953.2:p.(Arg297Gln)	NC_000011.9:g.75509352G>A	(Likely) benign	2 labs	83b763467c
11:46727140 ZNF408 G>A	11	46727140	46727140	G	A	ZNF408	c.1890G>A	NM_024741.3	NP_079017.1:p.(Arg630=)	NC_000011.9:g.46727140G>A	(Likely) benign	2 labs	83ca6cd7d9
4:73156678 ADAMTS3 T>C	4	73156678	73156678	T	C	ADAMTS3	c.2825A>G	NM_014243.3	NP_055058.2:p.(Asn942Ser)	NC_000004.11:g.73156678T>C	(Likely) benign	3 labs	83cc2dbcbe
11:6635816 TPP1 G>C	11	6635816	6635816	G	C	TPP1	c.1653C>G	NM_000391.4	NP_000382.3:p.(Pro551=)	NC_000011.9:g.6635816G>C	(Likely) benign	2 labs	83d93fd952
13:32971139 BRCA2 G>C	13	32971139	32971139	G	C	BRCA2	c.9606G>C	NM_000059.4	NP_000050.3:p.(Pro3202=)	NC_000013.10:g.32971139G>C	(Likely) benign	2 labs	83d9ea6f78
2:179589103 TTN T>C	2	179589103	179589103	T	C	TTN	c.20999A>G	NM_001267550.2	NP_001254479.2:p.(Asn7000Ser)	NC_000002.11:g.179589103T>C	VUS	3 labs	83e37f5e6b
19:49671281 TRPM4 G>A	19	49671281	49671281	G	A	TRPM4	c.375G>A	NM_017636.4	NP_060106.2:p.(Ser125=)	NC_000019.9:g.49671281G>A	(Likely) benign	2 labs	83e9042ee6
17:6329101 AIPL1 C>T	17	6329101	6329101	C	T	AIPL1	c.834G>A	NM_014336.5	NP_055151.3:p.(Trp278Ter)	NC_000017.10:g.6329101C>T	(Likely) pathogenic	2 labs	83f59ad408
6:152832169 SYNE1 A>T	6	152832169	152832169	A	T	SYNE1	c.400T>A	NM_033071.5	NP_149062.2:p.(Trp134Arg)	NC_000006.11:g.152832169A>T	VUS	2 labs	840ab4e773
2:179446827 TTN T>C	2	179446827	179446827	T	C	TTN	c.66269A>G	NM_001267550.2	NP_001254479.2:p.(Tyr22090Cys)	NC_000002.11:g.179446827T>C	VUS	2 labs	840f8e8b7d
14:76286442 TTLL5 G>A	14	76286442	76286442	G	A	TTLL5	c.3264G>A	NM_015072.5	NP_055887.3:p.(Pro1088=)	NC_000014.8:g.76286442G>A	(Likely) benign	2 labs	840fd52aef
6:112457364 LAMA4 C>T	6	112457364	112457364	C	T	LAMA4	c.3375G>A	NM_001105206.3	NP_001098676.2:p.(Thr1125=)	NC_000006.11:g.112457364C>T	(Likely) benign	3 labs	8415251035
1:68897242 RPE65 C>T	1	68897242	68897242	C	T	RPE65	c.1155G>A	NM_000329.3	NP_000320.1:p.(Thr385=)	NC_000001.10:g.68897242C>T	(Likely) benign	2 labs	84176f0b29
12:88478545 CEP290 G>A	12	88478545	88478545	G	A	CEP290	c.4522C>T	NM_025114.4	NP_079390.3:p.(Arg1508Ter)	NC_000012.11:g.88478545G>A	(Likely) pathogenic	3 labs	841954b03b
16:79245687 WWOX C>T	16	79245687	79245687	C	T	WWOX	c.1239C>T	NM_016373.4	NP_057457.1:p.(Ser413=)	NC_000016.9:g.79245687C>T	(Likely) benign	2 labs	843560ff34
17:56772284 RAD51C A>G	17	56772284	56772284	A	G	RAD51C	c.146-8A>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56772284A>G	(Likely) benign	5 labs	843f5acaeb
2:179448641 TTN A>G	2	179448641	179448641	A	G	TTN	c.57572-8T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179448641A>G	(Likely) benign	2 labs	84484c2ccd
15:48737605 FBN1 T>C	15	48737605	48737605	T	C	FBN1	c.5885A>G	NM_000138.5	NP_000129.3:p.(Tyr1962Cys)	NC_000015.9:g.48737605T>C	(Likely) pathogenic	2 labs	846d4fab59
9:32481500 RIGI TA>T	9	32481500	32481516	TA	T	RIGI	c.1481-6del	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32481516del	(Likely) benign	2 labs	8473d8f4b5
6:7581739 DSP T>C	6	7581739	7581739	T	C	DSP	c.5316T>C	NM_004415.4	NP_004406.2:p.(Asp1772=)	NC_000006.11:g.7581739T>C	(Likely) benign	2 labs	8475e06dce
5:131039748 FNIP1 C>T	5	131039748	131039748	C	T	FNIP1	c.1116+10G>A	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.131039748C>T	(Likely) benign	2 labs	84771efb40
2:179499272 TTN C>T	2	179499272	179499272	C	T	TTN	c.42236G>A	NM_001267550.2	NP_001254479.2:p.(Arg14079Gln)	NC_000002.11:g.179499272C>T	VUS	2 labs	84778b11a1
6:152650903 SYNE1 G>A	6	152650903	152650903	G	A	SYNE1	c.14917C>T	NM_182961.4	NP_892006.3:p.(Leu4973=)	NC_000006.11:g.152650903G>A	(Likely) benign	2 labs	847c90052c
5:126140449 LMNB1 C>T	5	126140449	126140449	C	T	LMNB1	c.360-19C>T	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126140449C>T	(Likely) benign	2 labs	848983605d
11:71943961 INPPL1 C>A	11	71943961	71943961	C	A	INPPL1	c.1894C>A	NM_001567.4	NP_001558.3:p.(Leu632Ile)	NC_000011.9:g.71943961C>A	(Likely) benign	2 labs	848ee0922c
11:65638718 EFEMP2 C>T	11	65638718	65638718	C	T	EFEMP2	c.277G>A	NM_016938.5	NP_058634.4:p.(Gly93Ser)	NC_000011.9:g.65638718C>T	(Likely) benign	3 labs	8490210139
1:78401682 NEXN G>C	1	78401682	78401682	G	C	NEXN	c.1426G>C	NM_144573.4	NP_653174.3:p.(Ala476Pro)	NC_000001.10:g.78401682G>C	VUS	2 labs	849341b161
19:39071043 RYR1 G>A	19	39071043	39071043	G	A	RYR1	c.14545G>A	NM_000540.3	NP_000531.2:p.(Val4849Ile)	NC_000019.9:g.39071043G>A	(Likely) pathogenic	3 labs	8499341df2
2:15616013 NBAS C>G	2	15616013	15616013	C	G	NBAS	c.1148-9G>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15616013C>G	(Likely) benign	2 labs	84ace8fa4a
X:66765158 AR TGCAGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCAGCA	T	AR	c.225_239del	NM_000044.6	NP_000035.2:p.(Gln76_Gln80del)	NC_000023.10:g.66765213_66765227del	(Likely) benign	2 labs	84ab347809
21:45709642 AIRE C>T	21	45709642	45709642	C	T	AIRE	c.755C>T	NM_000383.4	NP_000374.1:p.(Pro252Leu)	NC_000021.8:g.45709642C>T	(Likely) benign	2 labs	84b23d00c7
2:179614901 TTN C>T	2	179614901	179614901	C	T	TTN	c.12226G>A	NM_133379.5	NP_596870.2:p.(Glu4076Lys)	NC_000002.11:g.179614901C>T	(Likely) benign	2 labs	84b9b3e69f
1:237001821 MTR C>T	1	237001821	237001821	C	T	MTR	c.1437C>T	NM_000254.3	NP_000245.2:p.(Asp479=)	NC_000001.10:g.237001821C>T	(Likely) benign	2 labs	84c0939a4b
13:32915307 BRCA2 GAA>G	13	32915307	32915309	GAA	G	BRCA2	c.6816_6817del	NM_000059.4	NP_000050.3:p.(Gly2274ArgfsTer18)	NC_000013.10:g.32915308_32915309del	(Likely) pathogenic	4 labs	84bed2f3ba
9:27203134 TEK A>G	9	27203134	27203134	A	G	TEK	c.2209+17A>G	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27203134A>G	(Likely) benign	2 labs	84d957181e
4:6303281 WFS1 C>T	4	6303281	6303281	C	T	WFS1	c.1759C>T	NM_006005.3	NP_005996.2:p.(Arg587Trp)	NC_000004.11:g.6303281C>T	VUS	2 labs	84d1ff54b9
2:224642495 AP1S3 G>A	2	224642495	224642495	G	A	AP1S3	c.95C>T	NM_001039569.2	NP_001034658.1:p.(Thr32Ile)	NC_000002.11:g.224642495G>A	(Likely) benign	5 labs	84e02c4d35
7:128488610 FLNC T>A	7	128488610	128488610	T	A	FLNC	c.4581-5T>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488610T>A	(Likely) benign	3 labs	84e0afcca8
3:38607989 SCN5A C>T	3	38607989	38607989	C	T	SCN5A	c.3751G>A	NM_198056.3	NP_932173.1:p.(Val1251Met)	NC_000003.11:g.38607989C>T	(Likely) benign	2 labs	84e61bd8fd
20:57485102 GNAS T>C	20	57485102	57485102	T	C	GNAS	c.2865T>C	NM_080425.4	NP_536350.2:p.(Phe955=)	NC_000020.10:g.57485102T>C	(Likely) benign	2 labs	84e8de9a9a
2:179589210 TTN C>T	2	179589210	179589210	C	T	TTN	c.17160G>A	NM_133378.4	NP_596869.4:p.(Thr5720=)	NC_000002.11:g.179589210C>T	(Likely) benign	2 labs	84ed743299
16:2108724 TSC2 C>T	16	2108724	2108724	C	T	TSC2	c.849-24C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2108724C>T	(Likely) benign	2 labs	84f0cacbb4
19:2137055 AP3D1 G>A	19	2137055	2137055	G	A	AP3D1	c.309C>T	NM_001261826.3	NP_001248755.1:p.(His103=)	NC_000019.9:g.2137055G>A	(Likely) benign	2 labs	84fbbf1057
11:6647461 DCHS1 A>T	11	6647461	6647461	A	T	DCHS1	c.6515T>A	NM_003737.4	NP_003728.1:p.(Leu2172Gln)	NC_000011.9:g.6647461A>T	(Likely) benign	3 labs	84ff74c3b9
16:16276391 ABCC6 C>T	16	16276391	16276391	C	T	ABCC6	c.2125G>A	NM_001171.6	NP_001162.5:p.(Glu709Lys)	NC_000016.9:g.16276391C>T	VUS	2 labs	850544ba02
2:29293681 PCARE C>T	2	29293681	29293681	C	T	PCARE	c.3447G>A	NM_001029883.3	NP_001025054.1:p.(Pro1149=)	NC_000002.11:g.29293681C>T	(Likely) benign	2 labs	85090307ed
6:7585177 DSP TCTC>T	6	7585177	7585182	TCTC	T	DSP	c.7685_7687del	NM_004415.4	NP_004406.2:p.(Ser2562del)	NC_000006.11:g.7585180_7585182del	VUS	2 labs	8509dcc1d8
4:22425837 ADGRA3 C>T	4	22425837	22425837	C	T	ADGRA3	c.1582G>A	NM_145290.4	NP_660333.2:p.(Gly528Ser)	NC_000004.11:g.22425837C>T	(Likely) benign	2 labs	8512fea72f
21:46912464 COL18A1 G>A	21	46912464	46912464	G	A	COL18A1	c.3418G>A	NM_130444.3	NP_569711.2:p.(Val1140Met)	NC_000021.8:g.46912464G>A	(Likely) benign	2 labs	851deb05ce
8:10469370 RP1L1 C>T	8	10469370	10469370	C	T	RP1L1	c.2238G>A	NM_178857.6	NP_849188.4:p.(Ser746=)	NC_000008.10:g.10469370C>T	(Likely) benign	2 labs	852a67e601
X:77294443 ATP7A G>A	X	77294443	77294443	G	A	ATP7A	c.3621G>A	NM_000052.7	NP_000043.4:p.(Glu1207=)	NC_000023.10:g.77294443G>A	(Likely) benign	2 labs	85368f1d15
10:88459021 LDB3 TC>T	10	88459021	88459022	TC	T	LDB3	c.1100+6694del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88459022del	(Likely) benign	2 labs	852e350a26
6:76728489 IMPG1 G>A	6	76728489	76728489	G	A	IMPG1	c.753C>T	NM_001563.4	NP_001554.2:p.(Leu251=)	NC_000006.11:g.76728489G>A	(Likely) benign	2 labs	854f5e8245
6:152646279 SYNE1 G>C	6	152646279	152646279	G	C	SYNE1	c.15597C>G	NM_182961.4	NP_892006.3:p.(Ala5199=)	NC_000006.11:g.152646279G>C	(Likely) benign	3 labs	855210390a
2:179477286 TTN G>T	2	179477286	179477286	G	T	TTN	c.49966C>A	NM_001267550.2	NP_001254479.2:p.(Arg16656Ser)	NC_000002.11:g.179477286G>T	VUS	2 labs	8552543d3b
16:67876823 THAP11 A>ACAG	16	67876823	67876853	A	ACAG	THAP11	c.394_396dup	NM_020457.3	NP_065190.2:p.(Gln132dup)	NC_000016.9:g.67876851_67876853dup	(Likely) benign	2 labs	8568a30391
1:235875478 LYST T>C	1	235875478	235875478	T	C	LYST	c.9804A>G	NM_001301365.1	NP_001288294.1:p.(Pro3268=)	NC_000001.10:g.235875478T>C	(Likely) benign	3 labs	856fa116d0
3:14176729 TMEM43 C>T	3	14176729	14176729	C	T	TMEM43	c.777C>T	NM_024334.3	NP_077310.1:p.(His259=)	NC_000003.11:g.14176729C>T	(Likely) benign	2 labs	858a1371ce
8:145584354 SLC52A2 C>T	8	145584354	145584354	C	T	SLC52A2	c.1106C>T	NM_024531.5	NP_078807.1:p.(Ser369Leu)	NC_000008.10:g.145584354C>T	VUS	2 labs	859825d4c2
12:110231717 TRPV4 C>G	12	110231717	110231717	C	G	TRPV4	c.1584+18G>C	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110231717C>G	(Likely) benign	2 labs	859efaa8a8
15:73617693 HCN4 G>T	15	73617693	73617693	G	T	HCN4	c.1683C>A	NM_005477.3	NP_005468.1:p.(Gly561=)	NC_000015.9:g.73617693G>T	(Likely) benign	3 labs	85a0c6495f
9:100616706 FOXE1 C>CGCTGCCGCA	9	100616706	100616709	C	CGCTGCCGCA	FOXE1	c.512_513insTGCCGCAGC	NM_004473.4	NP_004464.2:p.(Ala177_Ala179dup)	NC_000009.11:g.100616708_100616709insTGCCGCAGC	(Likely) benign	2 labs	85a3d8d7cb
10:73537995 CDH23 G>A	10	73537995	73537995	G	A	CDH23	c.5117G>A	NM_022124.6	NP_071407.4:p.(Arg1706His)	NC_000010.10:g.73537995G>A	VUS	2 labs	85a84b0d11
1:201915330 LMOD1 C>A	1	201915330	201915330	C	A	LMOD1	c.139G>T	NM_012134.3	NP_036266.2:p.(Val47Leu)	NC_000001.10:g.201915330C>A	(Likely) benign	2 labs	85ab0fbe63
17:44067382 MAPT T>C	17	44067382	44067382	T	C	MAPT	c.1321T>C	NM_001123066.4	NP_001116538.2:p.(Tyr441His)	NC_000017.10:g.44067382T>C	(Likely) benign	3 labs	85bb4ed82f
21:47421864 COL6A1 C>T	21	47421864	47421864	C	T	COL6A1	c.1957-11C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421864C>T	(Likely) benign	2 labs	85bf693a70
1:201338951 TNNT2 G>A	1	201338951	201338951	G	A	TNNT2	c.90C>T	NM_001276345.2	NP_001263274.1:p.(Asp30=)	NC_000001.10:g.201338951G>A	(Likely) benign	2 labs	85c33ef255
10:112540911 RBM20 C>A	10	112540911	112540911	C	A	RBM20	c.544C>A	NM_001134363.3	NP_001127835.2:p.(Pro182Thr)	NC_000010.10:g.112540911C>A	VUS	3 labs	85c561983b
1:216246487 USH2A G>A	1	216246487	216246487	G	A	USH2A	c.5728C>T	NM_206933.4	NP_996816.3:p.(Gln1910Ter)	NC_000001.10:g.216246487G>A	(Likely) pathogenic	2 labs	85cad4ae4a
12:9027549 A2ML1 A>T	12	9027549	9027549	A	T	A2ML1	c.4325-18A>T	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9027549A>T	(Likely) benign	2 labs	85cd93bf71
12:5153694 KCNA5 C>T	12	5153694	5153694	C	T	KCNA5	c.381C>T	NM_002234.4	NP_002225.2:p.(Ser127=)	NC_000012.11:g.5153694C>T	(Likely) benign	3 labs	85cf9d99a4
17:75489167 SEPTIN9 C>T	17	75489167	75489167	C	T	SEPTIN9	c.1519+9C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489167C>T	(Likely) benign	2 labs	85dff4e3de
2:99013153 CNGA3 A>T	2	99013153	99013153	A	T	CNGA3	c.1520A>T	NM_001298.3	NP_001289.1:p.(Asp507Val)	NC_000002.11:g.99013153A>T	VUS	2 labs	85ee0aa119
7:154379570 DPP6 C>T	7	154379570	154379570	C	T	DPP6	c.838C>T	NM_001290253.2	NP_001277182.1:p.(Pro280Ser)	NC_000007.13:g.154379570C>T	(Likely) benign	2 labs	85f09e4d0c
16:70288653 AARS1 G>A	16	70288653	70288653	G	A	AARS1	c.2287-16C>T	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70288653G>A	(Likely) benign	2 labs	85f8ab49b0
2:179593804 TTN T>C	2	179593804	179593804	T	C	TTN	c.18961A>G	NM_001267550.2	NP_001254479.2:p.(Ile6321Val)	NC_000002.11:g.179593804T>C	(Likely) benign	2 labs	8602b9d297
20:45355615 SLC2A10 C>T	20	45355615	45355615	C	T	SLC2A10	c.1401C>T	NM_030777.4	NP_110404.1:p.(Leu467=)	NC_000020.10:g.45355615C>T	(Likely) benign	2 labs	86073b0a73
3:38798171 SCN10A C>T	3	38798171	38798171	C	T	SCN10A	c.1284G>A	NM_006514.4	NP_006505.4:p.(Glu428=)	NC_000003.11:g.38798171C>T	(Likely) benign	2 labs	8608663861
3:100995561 IMPG2 G>GA	3	100995561	100995570	G	GA	IMPG2	c.534-5dup	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100995570dup	(Likely) benign	2 labs	860e0c629a
18:34289305 FHOD3 G>A	18	34289305	34289305	G	A	FHOD3	c.2484G>A	NM_001281740.3	NP_001268669.1:p.(Thr828=)	NC_000018.9:g.34289305G>A	(Likely) benign	2 labs	8624c0485e
16:15818186 MYH11 C>T	16	15818186	15818186	C	T	MYH11	c.4218G>A	NM_001040113.2	NP_001035202.1:p.(Lys1406=)	NC_000016.9:g.15818186C>T	(Likely) benign	2 labs	8627973644
4:40245516 RHOH C>G	4	40245516	40245516	C	G	RHOH	c.510C>G	NM_004310.5	NP_004301.1:p.(Ala170=)	NC_000004.11:g.40245516C>G	(Likely) benign	2 labs	8629236af9
12:52307468 ACVRL1 C>T	12	52307468	52307468	C	T	ACVRL1	c.439C>T	NM_000020.3	NP_000011.2:p.(Gln147Ter)	NC_000012.11:g.52307468C>T	(Likely) pathogenic	2 labs	863212dcfb
17:41215385 BRCA1 T>C	17	41215385	41215385	T	C	BRCA1	c.5158A>G	NM_007294.4	NP_009225.1:p.(Thr1720Ala)	NC_000017.10:g.41215385T>C	(Likely) benign	5 labs	864778bf9b
1:32669918 CCDC28B G>A	1	32669918	32669918	G	A	CCDC28B	c.463G>A	NM_024296.5	NP_077272.2:p.(Gly155Arg)	NC_000001.10:g.32669918G>A	(Likely) benign	2 labs	864c55a417
2:219525915 BCS1L C>T	2	219525915	219525915	C	T	BCS1L	c.205C>T	NM_004328.5	NP_004319.1:p.(Arg69Cys)	NC_000002.11:g.219525915C>T	(Likely) pathogenic	2 labs	8677005fbe
13:32912679 BRCA2 A>G	13	32912679	32912679	A	G	BRCA2	c.4187A>G	NM_000059.4	NP_000050.3:p.(Gln1396Arg)	NC_000013.10:g.32912679A>G	(Likely) benign	5 labs	8677df62be
17:41244252 BRCA1 G>A	17	41244252	41244252	G	A	BRCA1	c.3296C>T	NM_007294.4	NP_009225.1:p.(Pro1099Leu)	NC_000017.10:g.41244252G>A	(Likely) benign	5 labs	86786d0d0c
9:12702410 TYRP1 TACAA>T	9	12702410	12702417	TACAA	T	TYRP1	c.1057_1060del	NM_000550.3	NP_000541.1:p.(Asn353ValfsTer31)	NC_000009.11:g.12702414_12702417del	(Likely) pathogenic	2 labs	8678feb122
14:102481564 DYNC1H1 G>A	14	102481564	102481564	G	A	DYNC1H1	c.7137G>A	NM_001376.5	NP_001367.2:p.(Leu2379=)	NC_000014.8:g.102481564G>A	(Likely) benign	2 labs	867e951ac7
2:113976146 PAX8 T>C	2	113976146	113976146	T	C	PAX8	c.1317A>G	NM_003466.4	NP_003457.1:p.(Ala439=)	NC_000002.11:g.113976146T>C	(Likely) benign	2 labs	8685a4319b
6:7584729 DSP A>G	6	7584729	7584729	A	G	DSP	c.7234A>G	NM_004415.4	NP_004406.2:p.(Thr2412Ala)	NC_000006.11:g.7584729A>G	VUS	2 labs	86875d8981
16:88495493 ZNF469 A>T	16	88495493	88495493	A	T	ZNF469	c.1615A>T	NM_001367624.2	NP_001354553.1:p.(Ser539Cys)	NC_000016.9:g.88495493A>T	(Likely) benign	2 labs	868ec2e385
1:215853488 USH2A T>C	1	215853488	215853488	T	C	USH2A	c.12294+3A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215853488T>C	VUS	2 labs	869e0f2a3b
2:167129256 SCN9A C>A	2	167129256	167129256	C	A	SCN9A	c.2971G>T	NM_002977.3	NP_002968.1:p.(Val991Leu)	NC_000002.11:g.167129256C>A	(Likely) benign	2 labs	86a80415f6
12:2694651 CACNA1C C>T	12	2694651	2694651	C	T	CACNA1C	c.2449C>T	NM_001167623.2	NP_001161095.1:p.(Pro817Ser)	NC_000012.11:g.2694651C>T	(Likely) benign	4 labs	86b20a97bc
X:63409759 AMER1 C>T	X	63409759	63409759	C	T	AMER1	c.3408G>A	NM_152424.4	NP_689637.3:p.(Ter1136=)	NC_000023.10:g.63409759C>T	(Likely) benign	3 labs	86b73e695a
3:33138544 GLB1 A>G	3	33138544	33138544	A	G	GLB1	c.34T>C	NM_000404.4	NP_000395.3:p.(Leu12=)	NC_000003.11:g.33138544A>G	(Likely) benign	4 labs	86bc295e61
1:94528248 ABCA4 A>T	1	94528248	94528248	A	T	ABCA4	c.1822T>A	NM_000350.3	NP_000341.2:p.(Phe608Ile)	NC_000001.10:g.94528248A>T	(Likely) pathogenic	3 labs	86bd84a73e
9:101073443 GABBR2 C>T	9	101073443	101073443	C	T	GABBR2	c.1938G>A	NM_005458.8	NP_005449.5:p.(Glu646=)	NC_000009.11:g.101073443C>T	(Likely) benign	2 labs	86ccc309ee
14:102912150 TECPR2 C>A	14	102912150	102912150	C	A	TECPR2	c.2941C>A	NM_014844.5	NP_055659.2:p.(Gln981Lys)	NC_000014.8:g.102912150C>A	(Likely) benign	2 labs	86cfabd2ea
1:216496836 USH2A G>A	1	216496836	216496836	G	A	USH2A	c.1530C>T	NM_206933.4	NP_996816.3:p.(Asp510=)	NC_000001.10:g.216496836G>A	(Likely) benign	2 labs	86d4b8ac08
9:4118026 GLIS3 C>T	9	4118026	4118026	C	T	GLIS3	c.1452G>A	NM_001042413.2	NP_001035878.1:p.(Gln484=)	NC_000009.11:g.4118026C>T	(Likely) benign	2 labs	86d58f501a
12:2705033 CACNA1C C>T	12	2705033	2705033	C	T	CACNA1C	c.2664-7C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2705033C>T	(Likely) benign	2 labs	86e2e24330
X:23398013 PTCHD1 C>T	X	23398013	23398013	C	T	PTCHD1	c.657C>T	NM_173495.3	NP_775766.2:p.(Asn219=)	NC_000023.10:g.23398013C>T	(Likely) benign	2 labs	86e40a90f9
13:32913076 BRCA2 C>T	13	32913076	32913076	C	T	BRCA2	c.4584C>T	NM_000059.4	NP_000050.3:p.(Ser1528=)	NC_000013.10:g.32913076C>T	(Likely) benign	5 labs	86e93cf3ce
17:33445587 RAD51D C>T	17	33445587	33445587	C	T	RAD51D	c.196G>A	NM_002878.4	NP_002869.3:p.(Val66Met)	NC_000017.10:g.33445587C>T	(Likely) benign	3 labs	86f9af8a73
18:21118574 NPC1 C>T	18	21118574	21118574	C	T	NPC1	c.2973G>A	NM_000271.5	NP_000262.2:p.(Gln991=)	NC_000018.9:g.21118574C>T	(Likely) benign	2 labs	86ff38abc4
1:228526653 OBSCN C>A	1	228526653	228526653	C	A	OBSCN	c.17184C>A	NM_052843.4	NP_443075.3:p.(His5728Gln)	NC_000001.10:g.228526653C>A	(Likely) benign	2 labs	87041e43a7
7:103202406 RELN C>CA	7	103202406	103202425	C	CA	RELN	c.5211-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202425dup	(Likely) benign	3 labs	8714af1f2d
X:152773819 BGN C>G	X	152773819	152773819	C	G	BGN	c.1023C>G	NM_001711.6	NP_001702.1:p.(Pro341=)	NC_000023.10:g.152773819C>G	(Likely) benign	3 labs	8717a8d443
5:82816791 VCAN C>T	5	82816791	82816791	C	T	VCAN	c.2666C>T	NM_004385.5	NP_004376.2:p.(Thr889Ile)	NC_000005.9:g.82816791C>T	(Likely) benign	2 labs	871d907fc4
8:61765273 CHD7 C>T	8	61765273	61765273	C	T	CHD7	c.6103+8C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61765273C>T	(Likely) benign	4 labs	8729a6f331
2:179544621 TTN C>T	2	179544621	179544621	C	T	TTN	c.33580G>A	NM_001267550.2	NP_001254479.2:p.(Val11194Met)	NC_000002.11:g.179544621C>T	VUS	2 labs	872d99c756
10:101964847 CHUK T>C	10	101964847	101964847	T	C	CHUK	c.1341A>G	NM_001278.5	NP_001269.3:p.(Gly447=)	NC_000010.10:g.101964847T>C	(Likely) benign	2 labs	873556af8f
X:51639813 MAGED1 G>A	X	51639813	51639813	G	A	MAGED1	c.1230G>A	NM_001005333.2	NP_001005333.1:p.(Val410=)	NC_000023.10:g.51639813G>A	(Likely) benign	2 labs	873edd5a51
3:81810516 GBE1 C>A	3	81810516	81810516	C	A	GBE1	c.143+10G>T	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81810516C>A	(Likely) benign	4 labs	8754e050a3
2:45171731 SIX3 G>A	2	45171731	45171731	G	A	SIX3	c.831G>A	NM_005413.4	NP_005404.1:p.(Pro277=)	NC_000002.11:g.45171731G>A	(Likely) benign	2 labs	8766cdaf6d
3:48622458 COL7A1 G>A	3	48622458	48622458	G	A	COL7A1	c.3975+11C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48622458G>A	(Likely) benign	2 labs	87760ff430
16:1576073 IFT140 G>A	16	1576073	1576073	G	A	IFT140	c.2583C>T	NM_014714.4	NP_055529.2:p.(Asp861=)	NC_000016.9:g.1576073G>A	(Likely) benign	2 labs	877b14cfd4
2:113993073 PAX8 A>G	2	113993073	113993073	A	G	PAX8	c.985T>C	NM_003466.4	NP_003457.1:p.(Phe329Leu)	NC_000002.11:g.113993073A>G	(Likely) benign	2 labs	877d1c5080
3:48612964 COL7A1 G>A	3	48612964	48612964	G	A	COL7A1	c.5988C>T	NM_000094.4	NP_000085.1:p.(Ile1996=)	NC_000003.11:g.48612964G>A	(Likely) benign	2 labs	87838ee7ce
2:38298420 CYP1B1 TTCTGCCTGCACTC>T	2	38298420	38298433	TTCTGCCTGCACTC	T	CYP1B1	c.1064_1076del	NM_000104.4	NP_000095.2:p.(Arg355HisfsTer69)	NC_000002.11:g.38298421_38298433del	(Likely) pathogenic	2 labs	878d22d6cb
3:38592427 SCN5A C>T	3	38592427	38592427	C	T	SCN5A	c.5436G>A	NM_198056.3	NP_932173.1:p.(Ser1812=)	NC_000003.11:g.38592427C>T	(Likely) benign	2 labs	87948bd3a8
11:534289 HRAS C>T	11	534289	534289	C	T	HRAS	c.34G>A	NM_176795.5	NP_789765.1:p.(Gly12Ser)	NC_000011.9:g.534289C>T	(Likely) pathogenic	3 labs	87970e00ce
12:48238837 VDR C>A	12	48238837	48238837	C	A	VDR	c.1025-49G>T	NM_001374661.1	NP_001361590.1:p.?	NC_000012.11:g.48238837C>A	(Likely) benign	3 labs	879b69f482
2:220285309 DES C>T	2	220285309	220285309	C	T	DES	c.828C>T	NM_001927.4	NP_001918.3:p.(Asp276=)	NC_000002.11:g.220285309C>T	(Likely) benign	5 labs	87a66a6353
1:215963626 USH2A T>C	1	215963626	215963626	T	C	USH2A	c.9959-2A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215963626T>C	(Likely) pathogenic	2 labs	87aafbf38c
3:32207327 GPD1L G>A	3	32207327	32207327	G	A	GPD1L	c.981G>A	NM_015141.4	NP_055956.1:p.(Val327=)	NC_000003.11:g.32207327G>A	(Likely) benign	2 labs	87ab8cfe97
1:66067109 LEPR T>C	1	66067109	66067109	T	C	LEPR	c.1029T>C	NM_001003679.3	NP_001003679.1:p.(Ser343=)	NC_000001.10:g.66067109T>C	(Likely) benign	2 labs	87b2bae262
16:83933296 MLYCD T>C	16	83933296	83933296	T	C	MLYCD	c.528+19T>C	NM_012213.3	NP_036345.2:p.?	NC_000016.9:g.83933296T>C	(Likely) benign	2 labs	87c46ec51f
13:32907413 BRCA2 T>C	13	32907413	32907413	T	C	BRCA2	c.1798T>C	NM_000059.4	NP_000050.3:p.(Tyr600His)	NC_000013.10:g.32907413T>C	(Likely) benign	6 labs	87b69f11e8
9:139408947 NOTCH1 G>A	9	139408947	139408947	G	A	NOTCH1	c.2207+15C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139408947G>A	(Likely) benign	2 labs	87ca9c3665
20:42788290 JPH2 G>T	20	42788290	42788290	G	T	JPH2	c.1137C>A	NM_020433.5	NP_065166.2:p.(Ile379=)	NC_000020.10:g.42788290G>T	(Likely) benign	2 labs	87d0c02e03
7:128488776 FLNC GTC>G	7	128488776	128488781	GTC	G	FLNC	c.4737+9_4737+10del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488780_128488781del	(Likely) benign	4 labs	87d84c7720
X:73641583 SLC16A2 T>TGAGCCC	X	73641583	73641602	T	TGAGCCC	SLC16A2	c.125_130dup	NM_006517.5	NP_006508.2:p.(Glu42_Pro43dup)	NC_000023.10:g.73641597_73641602dup	VUS	2 labs	87d8d73fe4
2:179605559 TTN A>T	2	179605559	179605559	A	T	TTN	c.12401T>A	NM_001267550.2	NP_001254479.2:p.(Ile4134Asn)	NC_000002.11:g.179605559A>T	(Likely) benign	2 labs	87d99c27ba
12:89853398 POC1B A>AC	12	89853398	89853399	A	AC	POC1B	c.1113+16_1113+17insG	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89853398_89853399insC	(Likely) benign	2 labs	87f48db152
15:67473648 SMAD3 G>C	15	67473648	67473648	G	C	SMAD3	c.728G>C	NM_005902.4	NP_005893.1:p.(Arg243Pro)	NC_000015.9:g.67473648G>C	VUS	2 labs	87f77d20e5
8:1728651 CLN8 C>T	8	1728651	1728651	C	T	CLN8	c.779C>T	NM_018941.4	NP_061764.2:p.(Pro260Leu)	NC_000008.10:g.1728651C>T	VUS	2 labs	87f8a55f71
6:144508563 STX11 G>A	6	144508563	144508563	G	A	STX11	c.799G>A	NM_003764.4	NP_003755.2:p.(Val267Met)	NC_000006.11:g.144508563G>A	(Likely) benign	2 labs	87fd1aa4f3
11:47354786 MYBPC3 GC>G	11	47354786	47354787	GC	G	MYBPC3	c.3288del	NM_000256.3	NP_000247.2:p.(Glu1096AspfsTer93)	NC_000011.9:g.47354787del	(Likely) pathogenic	2 labs	880c743c8b
9:98270535 PTCH1 C>G	9	98270535	98270535	C	G	PTCH1	c.109G>C	NM_000264.5	NP_000255.2:p.(Gly37Arg)	NC_000009.11:g.98270535C>G	(Likely) benign	2 labs	8804ffa203
7:81603841 CACNA2D1 C>T	7	81603841	81603841	C	T	CACNA2D1	c.1983G>A	NM_000722.4	NP_000713.2:p.(Ser661=)	NC_000007.13:g.81603841C>T	(Likely) benign	2 labs	881d0500f9
16:70925789 HYDIN T>C	16	70925789	70925789	T	C	HYDIN	c.9418-2A>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70925789T>C	VUS	2 labs	8821039a82
11:68675722 IGHMBP2 C>T	11	68675722	68675722	C	T	IGHMBP2	c.366C>T	NM_002180.3	NP_002171.2:p.(His122=)	NC_000011.9:g.68675722C>T	(Likely) benign	2 labs	88270a5307
19:16601197 CALR3 C>T	19	16601197	16601197	C	T	CALR3	c.378G>A	NM_145046.5	NP_659483.2:p.(Ser126=)	NC_000019.9:g.16601197C>T	(Likely) benign	2 labs	882bddfcdc
2:179504466 TTN G>A	2	179504466	179504466	G	A	TTN	c.40836C>T	NM_001267550.2	NP_001254479.2:p.(Ile13612=)	NC_000002.11:g.179504466G>A	(Likely) benign	2 labs	8842ed5448
1:154842199 KCNN3 GGCT>G	1	154842199	154842242	GGCT	G	KCNN3	c.239_241del	NM_002249.6	NP_002240.3:p.(Gln80del)	NC_000001.10:g.154842240_154842242del	(Likely) benign	2 labs	885f41e2f1
3:171417570 PLD1 G>A	3	171417570	171417570	G	A	PLD1	c.1192C>T	NM_002662.5	NP_002653.1:p.(Arg398Cys)	NC_000003.11:g.171417570G>A	(Likely) benign	2 labs	88656cd50b
15:90176239 KIF7 T>TAGGGAGGGAGGGAGGG	15	90176239	90176256	T	TAGGGAGGGAGGGAGGG	KIF7	c.2719-28_2719-13dup	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176241_90176256dup	(Likely) benign	2 labs	886c32a77c
8:63973988 TTPA A>C	8	63973988	63973988	A	C	TTPA	c.664-4T>G	NM_000370.3	NP_000361.1:p.?	NC_000008.10:g.63973988A>C	(Likely) benign	2 labs	8884760ab0
11:22296109 ANO5 C>T	11	22296109	22296109	C	T	ANO5	c.2236-6C>T	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22296109C>T	(Likely) benign	2 labs	88868b5e66
2:215610566 BARD1 G>A	2	215610566	215610566	G	A	BARD1	c.1690C>T	NM_000465.4	NP_000456.2:p.(Gln564Ter)	NC_000002.11:g.215610566G>A	(Likely) pathogenic	3 labs	889598eea7
2:169787256 ABCB11 C>T	2	169787256	169787256	C	T	ABCB11	c.3330G>A	NM_003742.4	NP_003733.2:p.(Ala1110=)	NC_000002.11:g.169787256C>T	(Likely) benign	2 labs	88a0d1a50b
16:2138432 TSC2 C>T	16	2138432	2138432	C	T	TSC2	c.5260-15C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138432C>T	(Likely) benign	2 labs	88ac01f696
3:148924031 CP C>T	3	148924031	148924031	C	T	CP	c.1132G>A	NM_000096.4	NP_000087.2:p.(Ala378Thr)	NC_000003.11:g.148924031C>T	VUS	2 labs	88b78d8719
5:112175211 APC T>A	5	112175211	112175211	T	A	APC	c.3920T>A	NM_000038.6	NP_000029.2:p.(Ile1307Lys)	NC_000005.9:g.112175211T>A	VUS	5 labs	88b93aa302
X:20187572 RPS6KA3 A>T	X	20187572	20187572	A	T	RPS6KA3	c.1391T>A	NM_004586.3	NP_004577.1:p.(Ile464Asn)	NC_000023.10:g.20187572A>T	VUS	2 labs	88c137e2d4
X:32834575 DMD ATCT>A	X	32834575	32834582	ATCT	A	DMD	c.530+7_530+9del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32834580_32834582del	(Likely) benign	2 labs	88c6242b24
17:78090815 GAA G>C	17	78090815	78090815	G	C	GAA	c.2238G>C	NM_000152.5	NP_000143.2:p.(Trp746Cys)	NC_000017.10:g.78090815G>C	(Likely) pathogenic	4 labs	88cb621aeb
14:76249487 TTLL5 T>C	14	76249487	76249487	T	C	TTLL5	c.2603-3T>C	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76249487T>C	(Likely) benign	3 labs	88cdcd0354
16:88801457 PIEZO1 G>A	16	88801457	88801457	G	A	PIEZO1	c.1674C>T	NM_001142864.4	NP_001136336.2:p.(Pro558=)	NC_000016.9:g.88801457G>A	(Likely) benign	2 labs	88cf76d807
17:41234602 BRCA1 C>T	17	41234602	41234602	C	T	BRCA1	c.4186-10G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41234602C>T	(Likely) benign	2 labs	88cf84da9e
8:1857591 ARHGEF10 G>A	8	1857591	1857591	G	A	ARHGEF10	c.2098G>A	NM_014629.4	NP_055444.2:p.(Val700Ile)	NC_000008.10:g.1857591G>A	(Likely) benign	3 labs	88d01a1f51
5:127680140 FBN2 C>T	5	127680140	127680140	C	T	FBN2	c.3280G>A	NM_001999.4	NP_001990.2:p.(Gly1094Arg)	NC_000005.9:g.127680140C>T	VUS	2 labs	88d4b2cb22
16:89805970 FANCA C>T	16	89805970	89805970	C	T	FANCA	c.3935-9G>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805970C>T	(Likely) benign	2 labs	88da9885c8
10:121431865 BAG3 G>T	10	121431865	121431865	G	T	BAG3	c.606G>T	NM_004281.4	NP_004272.2:p.(Pro202=)	NC_000010.10:g.121431865G>T	(Likely) benign	4 labs	88de7ac9cf
X:119672060 CUL4B G>A	X	119672060	119672060	G	A	CUL4B	c.1911C>T	NM_003588.4	NP_003579.3:p.(Cys637=)	NC_000023.10:g.119672060G>A	(Likely) benign	3 labs	88e02e26d8
2:220290449 DES C>G	2	220290449	220290449	C	G	DES	c.1353C>G	NM_001927.4	NP_001918.3:p.(Ile451Met)	NC_000002.11:g.220290449C>G	(Likely) pathogenic	2 labs	88e5f12a6a
15:90185649 KIF7 G>A	15	90185649	90185649	G	A	KIF7	c.2192-13C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90185649G>A	(Likely) benign	3 labs	88e5070ac4
15:40703736 IVD C>T	15	40703736	40703736	C	T	IVD	c.551-18C>T	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40703736C>T	(Likely) benign	2 labs	88e6db4283
2:204732740 CTLA4 G>C	2	204732740	204732740	G	C	CTLA4	c.75G>C	NM_005214.5	NP_005205.2:p.(Leu25=)	NC_000002.11:g.204732740G>C	(Likely) benign	4 labs	88f12c603d
2:167136911 SCN9A G>T	2	167136911	167136911	G	T	SCN9A	c.2266C>A	NM_002977.3	NP_002968.1:p.(Pro756Thr)	NC_000002.11:g.167136911G>T	VUS	4 labs	88f6660436
9:136438985 ADAMTSL2 G>A	9	136438985	136438985	G	A	ADAMTSL2	c.2613G>A	NM_001145320.2	NP_001138792.1:p.(Val871=)	NC_000009.11:g.136438985G>A	(Likely) benign	2 labs	8902e3566c
17:48272469 COL1A1 G>C	17	48272469	48272469	G	C	COL1A1	c.1300-8C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272469G>C	(Likely) benign	2 labs	88fa0e5bab
2:200193432 SATB2 G>A	2	200193432	200193432	G	A	SATB2	c.1375C>T	NM_001172509.2	NP_001165980.1:p.(Arg459Ter)	NC_000002.11:g.200193432G>A	(Likely) pathogenic	4 labs	89030f002e
5:149447765 CSF1R C>T	5	149447765	149447765	C	T	CSF1R	c.1626+13G>A	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149447765C>T	(Likely) benign	2 labs	890b6ca50f
2:179519004 TTN T>C	2	179519004	179519004	T	C	TTN	c.38311A>G	NM_001267550.2	NP_001254479.2:p.(Lys12771Glu)	NC_000002.11:g.179519004T>C	(Likely) benign	2 labs	89163df8b2
6:65622405 EYS G>A	6	65622405	65622405	G	A	EYS	c.2613C>T	NM_001292009.2	NP_001278938.1:p.(Asp871=)	NC_000006.11:g.65622405G>A	(Likely) benign	2 labs	8923af48d2
5:141051555 ARAP3 GGTGTGAGGGT>G	5	141051555	141051588	GGTGTGAGGGT	G	ARAP3	c.1586-18_1586-9del	NM_022481.6	NP_071926.4:p.?	NC_000005.9:g.141051579_141051588del	(Likely) benign	2 labs	892d4bf84f
7:94045725 COL1A2 C>T	7	94045725	94045725	C	T	COL1A2	c.1773C>T	NM_000089.4	NP_000080.2:p.(Arg591=)	NC_000007.13:g.94045725C>T	(Likely) benign	2 labs	894b9eb03d
X:38145100 RPGR TCC>T	X	38145100	38145105	TCC	T	RPGR	c.3150_3151del	NM_001034853.2	NP_001030025.1:p.(Glu1051ArgfsTer27)	NC_000023.10:g.38145104_38145105del	(Likely) pathogenic	2 labs	895b751829
4:114267094 ANK2 A>G	4	114267094	114267094	A	G	ANK2	c.4287A>G	NM_001148.6	NP_001139.3:p.(Ser1429=)	NC_000004.11:g.114267094A>G	(Likely) benign	2 labs	895efb7cac
6:7583802 DSP A>G	6	7583802	7583802	A	G	DSP	c.6307A>G	NM_004415.4	NP_004406.2:p.(Lys2103Glu)	NC_000006.11:g.7583802A>G	VUS	3 labs	896d34fd79
2:179419701 TTN G>A	2	179419701	179419701	G	A	TTN	c.88485C>T	NM_001267550.2	NP_001254479.2:p.(Leu29495=)	NC_000002.11:g.179419701G>A	(Likely) benign	2 labs	896e3782dd
16:1575995 IFT140 C>T	16	1575995	1575995	C	T	IFT140	c.2661G>A	NM_014714.4	NP_055529.2:p.(Glu887=)	NC_000016.9:g.1575995C>T	(Likely) benign	2 labs	896eead881
10:27702633 PTCHD3 G>A	10	27702633	27702633	G	A	PTCHD3	c.547C>T	NM_001034842.4	NP_001030014.2:p.(Arg183Cys)	NC_000010.10:g.27702633G>A	(Likely) benign	2 labs	896f351b50
21:38309619 HLCS C>A	21	38309619	38309619	C	A	HLCS	c.126G>T	NM_001242784.3	NP_001229713.1:p.(Glu42Asp)	NC_000021.8:g.38309619C>A	(Likely) benign	2 labs	8984f335dd
9:136221678 SURF1 C>A	9	136221678	136221678	C	A	SURF1	c.240+1G>T	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136221678C>A	(Likely) pathogenic	2 labs	898a444943
17:56432362 RNF43 C>G	17	56432362	56432362	C	G	RNF43	c.2309-15G>C	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56432362C>G	(Likely) benign	2 labs	898cd64123
12:57906072 MARS1 C>T	12	57906072	57906072	C	T	MARS1	c.1689C>T	NM_004990.4	NP_004981.2:p.(Val563=)	NC_000012.11:g.57906072C>T	(Likely) benign	2 labs	89a1b4a172
3:38603957 SCN5A C>T	3	38603957	38603957	C	T	SCN5A	c.3912G>A	NM_198056.3	NP_932173.1:p.(Thr1304=)	NC_000003.11:g.38603957C>T	(Likely) benign	2 labs	89a8f62a2b
3:9807587 OGG1 G>A	3	9807587	9807587	G	A	OGG1	c.1043G>A	NM_016821.3	NP_058214.1:p.(Gly348Glu)	NC_000003.11:g.9807587G>A	(Likely) benign	2 labs	89afa4182a
21:47544838 COL6A2 G>A	21	47544838	47544838	G	A	COL6A2	c.1770+4G>A	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47544838G>A	(Likely) benign	2 labs	89b0df8335
7:91714911 AKAP9 C>T	7	91714911	91714911	C	T	AKAP9	c.8935C>T	NM_005751.5	NP_005742.4:p.(Pro2979Ser)	NC_000007.13:g.91714911C>T	(Likely) benign	2 labs	8a14c87d10
7:128489593 FLNC C>T	7	128489593	128489593	C	T	FLNC	c.5160C>T	NM_001458.5	NP_001449.3:p.(Phe1720=)	NC_000007.13:g.128489593C>T	(Likely) benign	2 labs	8a102fb9fe
1:216497582 USH2A C>A	1	216497582	216497582	C	A	USH2A	c.1256G>T	NM_206933.4	NP_996816.3:p.(Cys419Phe)	NC_000001.10:g.216497582C>A	(Likely) pathogenic	3 labs	8a115432b9
8:1871253 ARHGEF10 T>C	8	1871253	1871253	T	C	ARHGEF10	c.2331+8T>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1871253T>C	(Likely) benign	2 labs	8a19878240
20:57016039 VAPB GTTC>G	20	57016039	57016047	GTTC	G	VAPB	c.479_481del	NM_004738.5	NP_004729.1:p.(Ser160del)	NC_000020.10:g.57016045_57016047del	(Likely) benign	3 labs	8a1e02974a
9:116153066 ALAD G>A	9	116153066	116153066	G	A	ALAD	c.397+12C>T	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116153066G>A	(Likely) benign	2 labs	8a270917cd
10:88478529 LDB3 G>A	10	88478529	88478529	G	A	LDB3	c.1918G>A	NM_001171610.2	NP_001165081.1:p.(Val640Ile)	NC_000010.10:g.88478529G>A	(Likely) benign	5 labs	8a2cfb0f75
19:33882222 PEPD G>A	19	33882222	33882222	G	A	PEPD	c.1131C>T	NM_000285.4	NP_000276.2:p.(His377=)	NC_000019.9:g.33882222G>A	(Likely) benign	2 labs	8a33993477
19:30193721 C19orf12 G>A	19	30193721	30193721	G	A	C19orf12	c.324C>T	NM_031448.6	NP_113636.2:p.(Thr108=)	NC_000019.9:g.30193721G>A	(Likely) benign	3 labs	8a44ada988
2:69583684 GFPT1 A>G	2	69583684	69583684	A	G	GFPT1	c.549T>C	NM_001244710.2	NP_001231639.1:p.(Gly183=)	NC_000002.11:g.69583684A>G	(Likely) benign	2 labs	8a3429a56e
20:62044909 KCNQ2 G>A	20	62044909	62044909	G	A	KCNQ2	c.1603C>T	NM_001382235.1	NP_001369164.1:p.(Arg535Trp)	NC_000020.10:g.62044909G>A	(Likely) pathogenic	3 labs	8a35dce818
18:29121187 DSG2 C>T	18	29121187	29121187	C	T	DSG2	c.1911C>T	NM_001943.5	NP_001934.2:p.(Cys637=)	NC_000018.9:g.29121187C>T	(Likely) benign	4 labs	8a473f0ef8
7:150652514 KCNH2 G>A	7	150652514	150652514	G	A	KCNH2	c.78C>T	NM_172057.3	NP_742054.1:p.(Ala26=)	NC_000007.13:g.150652514G>A	(Likely) benign	4 labs	8a4782c591
12:122260728 SETD1B C>A	12	122260728	122260728	C	A	SETD1B	c.4243C>A	NM_001353345.2	NP_001340274.1:p.(Pro1415Thr)	NC_000012.11:g.122260728C>A	(Likely) benign	2 labs	8a4a574867
12:7175782 C1S C>T	12	7175782	7175782	C	T	C1S	c.1218C>T	NM_001734.5	NP_001725.1:p.(Asn406=)	NC_000012.11:g.7175782C>T	(Likely) benign	2 labs	8a4cde3dce
20:62560898 DNAJC5 C>T	20	62560898	62560898	C	T	DNAJC5	c.321+20C>T	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62560898C>T	(Likely) benign	2 labs	8a569fab05
19:50909558 POLD1 C>T	19	50909558	50909558	C	T	POLD1	c.1362C>T	NM_001256849.1	NP_001243778.1:p.(Arg454=)	NC_000019.9:g.50909558C>T	(Likely) benign	2 labs	8a56f4a51d
2:179594601 TTN A>C	2	179594601	179594601	A	C	TTN	c.18379T>G	NM_001267550.2	NP_001254479.2:p.(Cys6127Gly)	NC_000002.11:g.179594601A>C	(Likely) benign	3 labs	8a59b77679
7:112096043 IFRD1 A>C	7	112096043	112096043	A	C	IFRD1	c.200-14A>C	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112096043A>C	(Likely) benign	3 labs	8a5c8682f5
8:100791127 VPS13B C>T	8	100791127	100791127	C	T	VPS13B	c.7722C>T	NM_017890.5	NP_060360.3:p.(Phe2574=)	NC_000008.10:g.100791127C>T	(Likely) benign	2 labs	8a6c3c64fd
20:61452556 COL9A3 G>A	20	61452556	61452556	G	A	COL9A3	c.333G>A	NM_001853.4	NP_001844.3:p.(Pro111=)	NC_000020.10:g.61452556G>A	(Likely) benign	2 labs	8a7f95ae87
11:68080282 LRP5 G>C	11	68080282	68080282	G	C	LRP5	c.91+9G>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68080282G>C	(Likely) benign	3 labs	8a87313ecf
4:1806099 FGFR3 A>G	4	1806099	1806099	A	G	FGFR3	c.1118A>G	NM_000142.5	NP_000133.1:p.(Tyr373Cys)	NC_000004.11:g.1806099A>G	(Likely) pathogenic	4 labs	8a8970c350
15:48812974 FBN1 C>T	15	48812974	48812974	C	T	FBN1	c.1029G>A	NM_000138.5	NP_000129.3:p.(Gly343=)	NC_000015.9:g.48812974C>T	(Likely) benign	2 labs	8a9f6c3366
16:81411091 GAN C>G	16	81411091	81411091	C	G	GAN	c.1684C>G	NM_022041.4	NP_071324.1:p.(Pro562Ala)	NC_000016.9:g.81411091C>G	(Likely) benign	4 labs	8aa75171a8
2:189873700 COL3A1 C>T	2	189873700	189873700	C	T	COL3A1	c.3576C>T	NM_000090.4	NP_000081.2:p.(Ala1192=)	NC_000002.11:g.189873700C>T	(Likely) benign	3 labs	8ab0cb0740
8:10468964 RP1L1 G>A	8	10468964	10468964	G	A	RP1L1	c.2644C>T	NM_178857.6	NP_849188.4:p.(Arg882Trp)	NC_000008.10:g.10468964G>A	(Likely) benign	2 labs	8ab3f057d0
10:112581554 RBM20 A>G	10	112581554	112581554	A	G	RBM20	c.3177A>G	NM_001134363.3	NP_001127835.2:p.(Pro1059=)	NC_000010.10:g.112581554A>G	(Likely) benign	2 labs	8ab6df2809
16:16291968 ABCC6 G>A	16	16291968	16291968	G	A	ABCC6	c.1248C>T	NM_001171.6	NP_001162.5:p.(Asp416=)	NC_000016.9:g.16291968G>A	(Likely) benign	2 labs	8ab8bfdb2f
X:119581685 LAMP2 G>A	X	119581685	119581685	G	A	LAMP2	c.741+11C>T	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119581685G>A	(Likely) benign	2 labs	8abd46321d
7:128475624 FLNC C>T	7	128475624	128475624	C	T	FLNC	c.597C>T	NM_001458.5	NP_001449.3:p.(Ala199=)	NC_000007.13:g.128475624C>T	(Likely) benign	5 labs	8ac28417b1
20:42747274 JPH2 A>G	20	42747274	42747274	A	G	JPH2	c.1170-11T>C	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42747274A>G	(Likely) benign	3 labs	8ac56f11dc
16:29825024 PRRT2 C>T	16	29825024	29825024	C	T	PRRT2	c.649C>T	NM_145239.3	NP_660282.2:p.(Arg217Ter)	NC_000016.9:g.29825024C>T	(Likely) pathogenic	2 labs	8ac709f2fa
6:152534789 SYNE1 T>C	6	152534789	152534789	T	C	SYNE1	c.22452A>G	NM_182961.4	NP_892006.3:p.(Ser7484=)	NC_000006.11:g.152534789T>C	(Likely) benign	3 labs	8acabf8c4e
1:33248032 YARS1 C>T	1	33248032	33248032	C	T	YARS1	c.1015G>A	NM_003680.4	NP_003671.1:p.(Ala339Thr)	NC_000001.10:g.33248032C>T	(Likely) benign	2 labs	8acf530696
8:94775175 TMEM67 CAG>C	8	94775175	94775177	CAG	C	TMEM67	c.407-894_407-893del	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94775176_94775177del	(Likely) benign	2 labs	8ad4df65b3
18:28669444 DSC2 A>G	18	28669444	28669444	A	G	DSC2	c.588T>C	NM_004949.5	NP_004940.1:p.(Tyr196=)	NC_000018.9:g.28669444A>G	(Likely) benign	2 labs	8ad6b1def4
1:201869257 LMOD1 G>A	1	201869257	201869257	G	A	LMOD1	c.884C>T	NM_012134.3	NP_036266.2:p.(Thr295Met)	NC_000001.10:g.201869257G>A	(Likely) benign	2 labs	8af8bee904
9:35720827 TLN1 G>A	9	35720827	35720827	G	A	TLN1	c.1188C>T	NM_006289.4	NP_006280.3:p.(Ile396=)	NC_000009.11:g.35720827G>A	(Likely) benign	3 labs	8afafd1f5d
6:100841613 SIM1 C>T	6	100841613	100841613	C	T	SIM1	c.1320G>A	NM_005068.3	NP_005059.2:p.(Ser440=)	NC_000006.11:g.100841613C>T	(Likely) benign	2 labs	8b04628bcd
1:3102674 PRDM16 C>T	1	3102674	3102674	C	T	PRDM16	c.38-15C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3102674C>T	(Likely) benign	3 labs	8b05da2808
17:40695586 NAGLU C>T	17	40695586	40695586	C	T	NAGLU	c.1562C>T	NM_000263.4	NP_000254.2:p.(Pro521Leu)	NC_000017.10:g.40695586C>T	(Likely) pathogenic	2 labs	8b18ae7f34
11:65634533 EFEMP2 G>A	11	65634533	65634533	G	A	EFEMP2	c.1188C>T	NM_016938.5	NP_058634.4:p.(Ser396=)	NC_000011.9:g.65634533G>A	(Likely) benign	3 labs	8b23ddcfee
3:97506827 ARL6 C>T	3	97506827	97506827	C	T	ARL6	c.350-7C>T	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97506827C>T	(Likely) benign	2 labs	8b27c4e405
12:971349 WNK1 A>G	12	971349	971349	A	G	WNK1	c.2052A>G	NM_001184985.2	NP_001171914.1:p.(Ala684=)	NC_000012.11:g.971349A>G	(Likely) benign	2 labs	8b28eab643
16:2136751 TSC2 C>T	16	2136751	2136751	C	T	TSC2	c.4868C>T	NM_000548.5	NP_000539.2:p.(Thr1623Ile)	NC_000016.9:g.2136751C>T	(Likely) pathogenic	2 labs	8b33859197
16:15892497 MYH11 G>A	16	15892497	15892497	G	A	MYH11	c.530+20C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15892497G>A	(Likely) benign	2 labs	8b34e9de4e
12:863415 WNK1 C>T	12	863415	863415	C	T	WNK1	c.684C>T	NM_001184985.2	NP_001171914.1:p.(Gly228=)	NC_000012.11:g.863415C>T	(Likely) benign	2 labs	8b34f970c2
2:202598100 ALS2 T>A	2	202598100	202598100	T	A	ALS2	c.2479A>T	NM_020919.4	NP_065970.2:p.(Thr827Ser)	NC_000002.11:g.202598100T>A	(Likely) benign	3 labs	8b3b407a64
2:215646193 BARD1 A>G	2	215646193	215646193	A	G	BARD1	c.405T>C	NM_000465.4	NP_000456.2:p.(Asp135=)	NC_000002.11:g.215646193A>G	(Likely) benign	3 labs	8b4499be85
14:57271054 OTX2 G>T	14	57271054	57271054	G	T	OTX2	c.101C>A	NM_001270524.2	NP_001257453.1:p.(Thr34Asn)	NC_000014.8:g.57271054G>T	VUS	2 labs	8b4be79de5
7:128470838 FLNC C>T	7	128470838	128470838	C	T	FLNC	c.147C>T	NM_001458.5	NP_001449.3:p.(His49=)	NC_000007.13:g.128470838C>T	(Likely) benign	2 labs	8b4ddbde65
1:156105051 LMNA C>T	1	156105051	156105051	C	T	LMNA	c.884C>T	NM_170707.4	NP_733821.1:p.(Ser295Leu)	NC_000001.10:g.156105051C>T	VUS	2 labs	8b6313d796
2:179580434 TTN A>G	2	179580434	179580434	A	G	TTN	c.25707T>C	NM_001267550.2	NP_001254479.2:p.(Tyr8569=)	NC_000002.11:g.179580434A>G	(Likely) benign	3 labs	8b7483d00e
14:73664755 PSEN1 G>C	14	73664755	73664755	G	C	PSEN1	c.786G>C	NM_000021.4	NP_000012.1:p.(Leu262Phe)	NC_000014.8:g.73664755G>C	(Likely) pathogenic	2 labs	8b7fd19704
2:179428624 TTN G>T	2	179428624	179428624	G	T	TTN	c.82235C>A	NM_001267550.2	NP_001254479.2:p.(Thr27412Lys)	NC_000002.11:g.179428624G>T	(Likely) benign	2 labs	8b8791dc95
2:179665117 TTN C>T	2	179665117	179665117	C	T	TTN	c.583+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179665117C>T	(Likely) benign	3 labs	8b8e575f66
1:68910315 RPE65 C>T	1	68910315	68910315	C	T	RPE65	c.394G>A	NM_000329.3	NP_000320.1:p.(Ala132Thr)	NC_000001.10:g.68910315C>T	(Likely) benign	2 labs	8b9a532fb8
12:2702421 CACNA1C G>A	12	2702421	2702421	G	A	CACNA1C	c.2573G>A	NM_199460.4	NP_955630.3:p.(Arg858His)	NC_000012.11:g.2702421G>A	(Likely) pathogenic	3 labs	8ba2eee20c
12:119631488 HSPB8 C>T	12	119631488	119631488	C	T	HSPB8	c.432-16C>T	NM_014365.3	NP_055180.1:p.?	NC_000012.11:g.119631488C>T	(Likely) benign	2 labs	8ba312ded4
16:72137513 DHX38 C>T	16	72137513	72137513	C	T	DHX38	c.1650C>T	NM_014003.4	NP_054722.2:p.(Ile550=)	NC_000016.9:g.72137513C>T	(Likely) benign	2 labs	8ba6b09ae1
3:38647478 SCN5A G>A	3	38647478	38647478	G	A	SCN5A	c.1302C>T	NM_001099404.2	NP_001092874.1:p.(Phe434=)	NC_000003.11:g.38647478G>A	(Likely) benign	4 labs	8ba732b137
1:12009838 PLOD1 C>T	1	12009838	12009838	C	T	PLOD1	c.177C>T	NM_000302.4	NP_000293.2:p.(Gly59=)	NC_000001.10:g.12009838C>T	(Likely) benign	2 labs	8bb209b2f9
20:485826 CSNK2A1 T>C	20	485826	485826	T	C	CSNK2A1	c.149A>G	NM_177559.3	NP_808227.1:p.(Tyr50Cys)	NC_000020.10:g.485826T>C	(Likely) pathogenic	2 labs	8bb71bcc08
15:28261272 OCA2 T>C	15	28261272	28261272	T	C	OCA2	c.868A>G	NM_000275.3	NP_000266.2:p.(Arg290Gly)	NC_000015.9:g.28261272T>C	(Likely) pathogenic	2 labs	8bbb6c0b58
3:123419417 MYLK G>A	3	123419417	123419417	G	A	MYLK	c.2898C>T	NM_053025.4	NP_444253.3:p.(Pro966=)	NC_000003.11:g.123419417G>A	(Likely) benign	2 labs	8bc7cd4a30
2:179527269 TTN C>T	2	179527269	179527269	C	T	TTN	c.36949G>A	NM_001267550.2	NP_001254479.2:p.(Ala12317Thr)	NC_000002.11:g.179527269C>T	(Likely) benign	4 labs	8bd40a282c
11:108168084 ATM C>T	11	108168084	108168084	C	T	ATM	c.4980C>T	NM_000051.4	NP_000042.3:p.(Asn1660=)	NC_000011.9:g.108168084C>T	(Likely) benign	6 labs	8bd6fcd397
6:76734933 IMPG1 A>C	6	76734933	76734933	A	C	IMPG1	c.540T>G	NM_001563.4	NP_001554.2:p.(Gly180=)	NC_000006.11:g.76734933A>C	(Likely) benign	2 labs	8be0c24e74
16:70287706 AARS1 G>A	16	70287706	70287706	G	A	AARS1	c.2521-3C>T	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70287706G>A	(Likely) benign	4 labs	8bf277a3bb
12:2797829 CACNA1C G>A	12	2797829	2797829	G	A	CACNA1C	c.6250G>A	NM_199460.4	NP_955630.3:p.(Gly2084Ser)	NC_000012.11:g.2797829G>A	VUS	3 labs	8bf4fc6470
3:123359207 MYLK C>T	3	123359207	123359207	C	T	MYLK	c.4764G>A	NM_053025.4	NP_444253.3:p.(Pro1588=)	NC_000003.11:g.123359207C>T	(Likely) benign	4 labs	8bf7cfd2ab
14:54417117 BMP4 C>T	14	54417117	54417117	C	T	BMP4	c.860G>A	NM_001202.6	NP_001193.2:p.(Arg287His)	NC_000014.8:g.54417117C>T	(Likely) benign	3 labs	8bf833a930
14:23902893 MYH7 G>A	14	23902893	23902893	G	A	MYH7	c.49C>T	NM_000257.4	NP_000248.2:p.(Arg17Cys)	NC_000014.8:g.23902893G>A	VUS	3 labs	8bfae1a35c
19:11216204 LDLR G>A	19	11216204	11216204	G	A	LDLR	c.622G>A	NM_000527.5	NP_000518.1:p.(Glu208Lys)	NC_000019.9:g.11216204G>A	(Likely) pathogenic	2 labs	8bff619723
17:41243725 BRCA1 T>C	17	41243725	41243725	T	C	BRCA1	c.3823A>G	NM_007294.4	NP_009225.1:p.(Ile1275Val)	NC_000017.10:g.41243725T>C	(Likely) benign	4 labs	8c07e3ce8e
3:58110105 FLNB G>A	3	58110105	58110105	G	A	FLNB	c.3771G>A	NM_001164317.2	NP_001157789.1:p.(Pro1257=)	NC_000003.11:g.58110105G>A	(Likely) benign	2 labs	8c226939e9
16:49671074 ZNF423 C>T	16	49671074	49671074	C	T	ZNF423	c.1809G>A	NM_001271620.2	NP_001258549.1:p.(Ala603=)	NC_000016.9:g.49671074C>T	(Likely) benign	2 labs	8c31cd1b78
7:75933133 HSPB1 C>T	7	75933133	75933133	C	T	HSPB1	c.379C>T	NM_001540.5	NP_001531.1:p.(Arg127Trp)	NC_000007.13:g.75933133C>T	(Likely) pathogenic	2 labs	8c399146c4
3:58131638 FLNB G>A	3	58131638	58131638	G	A	FLNB	c.5519-10G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58131638G>A	(Likely) benign	2 labs	8c3c40ea5f
18:29101149 DSG2 G>A	18	29101149	29101149	G	A	DSG2	c.466G>A	NM_001943.5	NP_001934.2:p.(Glu156Lys)	NC_000018.9:g.29101149G>A	VUS	3 labs	8c3ecceaed
14:64580297 SYNE2 T>C	14	64580297	64580297	T	C	SYNE2	c.12840+8T>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64580297T>C	(Likely) benign	2 labs	8c4717b785
1:201009011 CACNA1S C>T	1	201009011	201009011	C	T	CACNA1S	c.5570G>A	NM_000069.3	NP_000060.2:p.(Ser1857Asn)	NC_000001.10:g.201009011C>T	(Likely) benign	4 labs	8c553d885e
11:46342259 CREB3L1 A>AG	11	46342259	46342261	A	AG	CREB3L1	c.1525dup	NM_052854.4	NP_443086.1:p.(Asp509GlyfsTer156)	NC_000011.9:g.46342261dup	(Likely) benign	2 labs	8c60fe82a6
X:8433535 VCX3B A>C	X	8433535	8433535	A	C	VCX3B	c.44A>C	NM_001001888.4	NP_001001888.3:p.(Lys15Thr)	NC_000023.10:g.8433535A>C	(Likely) benign	2 labs	8c673e9f30
14:105168099 INF2 C>T	14	105168099	105168099	C	T	INF2	c.391+6C>T	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105168099C>T	(Likely) benign	3 labs	8c6d5e69fa
11:118014633 SCN4B C>T	11	118014633	118014633	C	T	SCN4B	c.378G>A	NM_174934.4	NP_777594.1:p.(Thr126=)	NC_000011.9:g.118014633C>T	(Likely) benign	2 labs	8c6d71e31e
10:95389047 PDE6C A>G	10	95389047	95389047	A	G	PDE6C	c.1104A>G	NM_006204.4	NP_006195.3:p.(Glu368=)	NC_000010.10:g.95389047A>G	(Likely) benign	2 labs	8c6e6d966a
15:85360787 ALPK3 C>T	15	85360787	85360787	C	T	ALPK3	c.104C>T	NM_020778.5	NP_065829.4:p.(Ala35Val)	NC_000015.9:g.85360787C>T	(Likely) benign	2 labs	8c86255bfd
8:94809608 TMEM67 A>G	8	94809608	94809608	A	G	TMEM67	c.2010A>G	NM_153704.6	NP_714915.3:p.(Thr670=)	NC_000008.10:g.94809608A>G	(Likely) benign	2 labs	8c79a13a24
4:651252 PDE6B A>G	4	651252	651252	A	G	PDE6B	c.1370A>G	NM_000283.4	NP_000274.3:p.(Lys457Arg)	NC_000004.11:g.651252A>G	VUS	2 labs	8c816db253
1:145299792 NBPF10 A>G	1	145299792	145299792	A	G	NBPF10	c.841A>G	NM_001039703.6	NP_001034792.4:p.(Ser281Gly)	NC_000001.10:g.145299792A>G	(Likely) benign	2 labs	8c81989eaa
11:68682305 IGHMBP2 C>G	11	68682305	68682305	C	G	IGHMBP2	c.726C>G	NM_002180.3	NP_002171.2:p.(Ala242=)	NC_000011.9:g.68682305C>G	(Likely) benign	2 labs	8c84a43502
10:85964332 CDHR1 C>T	10	85964332	85964332	C	T	CDHR1	c.833C>T	NM_033100.4	NP_149091.1:p.(Pro278Leu)	NC_000010.10:g.85964332C>T	VUS	2 labs	8c93bf45b8
1:237774130 RYR2 G>A	1	237774130	237774130	G	A	RYR2	c.4752G>A	NM_001035.3	NP_001026.2:p.(Pro1584=)	NC_000001.10:g.237774130G>A	(Likely) benign	2 labs	8c9b0af0d1
2:179482100 TTN A>G	2	179482100	179482100	A	G	TTN	c.47712T>C	NM_001267550.2	NP_001254479.2:p.(Asp15904=)	NC_000002.11:g.179482100A>G	(Likely) benign	3 labs	8c9bbb9b12
12:9009779 A2ML1 C>T	12	9009779	9009779	C	T	A2ML1	c.2868C>T	NM_144670.6	NP_653271.3:p.(Ala956=)	NC_000012.11:g.9009779C>T	(Likely) benign	3 labs	8ca194f4fc
16:53698860 RPGRIP1L T>C	16	53698860	53698860	T	C	RPGRIP1L	c.1165A>G	NM_001308334.3	NP_001295263.1:p.(Ile389Val)	NC_000016.9:g.53698860T>C	(Likely) benign	3 labs	8ca1db7a0b
7:33545055 BBS9 G>A	7	33545055	33545055	G	A	BBS9	c.2116-20G>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33545055G>A	(Likely) benign	2 labs	8ca456ab93
16:15814692 MYH11 G>A	16	15814692	15814692	G	A	MYH11	c.4812+4C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15814692G>A	(Likely) benign	2 labs	8cadd30564
9:451975 DOCK8 ATATTTTTTTTTTTT>A	9	451975	451990	ATATTTTTTTTTTTT	A	DOCK8	c.5962-34_5962-21del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451977_451990del	(Likely) benign	2 labs	8cb0f83d19
18:72997836 TSHZ1 CACA>C	18	72997836	72997839	CACA	C	TSHZ1	c.340_342del	NM_005786.6	NP_005777.3:p.(Thr114del)	NC_000018.9:g.72997837_72997839del	(Likely) benign	2 labs	8cb486af04
3:123454275 MYLK G>A	3	123454275	123454275	G	A	MYLK	c.755-12C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123454275G>A	(Likely) benign	3 labs	8cbe72e52b
19:12769110 MAN2B1 C>T	19	12769110	12769110	C	T	MAN2B1	c.1158G>A	NM_000528.4	NP_000519.2:p.(Gln386=)	NC_000019.9:g.12769110C>T	(Likely) benign	2 labs	8cd686c7da
18:21124909 NPC1 C>CG	18	21124909	21124910	C	CG	NPC1	c.1947+14_1947+15insC	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124909_21124910insG	(Likely) benign	2 labs	8cd823ce24
11:108167998 ATM A>T	11	108167998	108167998	A	T	ATM	c.4910-16A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108167998A>T	(Likely) benign	4 labs	8cd9cfa0f8
2:179396257 TTN A>G	2	179396257	179396257	A	G	TTN	c.105085T>C	NM_001267550.2	NP_001254479.2:p.(Leu35029=)	NC_000002.11:g.179396257A>G	(Likely) benign	3 labs	8cee7d01c0
1:237755076 RYR2 A>G	1	237755076	237755076	A	G	RYR2	c.4198A>G	NM_001035.3	NP_001026.2:p.(Ser1400Gly)	NC_000001.10:g.237755076A>G	(Likely) benign	6 labs	8cf5b0f2ec
1:12065913 MFN2 C>T	1	12065913	12065913	C	T	MFN2	c.1641C>T	NM_014874.4	NP_055689.1:p.(Leu547=)	NC_000001.10:g.12065913C>T	(Likely) benign	2 labs	8d08c5512a
1:12004663 PLOD1 G>A	1	12004663	12004663	G	A	PLOD1	c.161G>A	NM_001316320.2	NP_001303249.1:p.(Arg54Gln)	NC_000001.10:g.12004663G>A	(Likely) benign	2 labs	8d0d04b47c
13:32907051 BRCA2 A>C	13	32907051	32907051	A	C	BRCA2	c.1436A>C	NM_000059.4	NP_000050.3:p.(Asp479Ala)	NC_000013.10:g.32907051A>C	(Likely) benign	2 labs	8d20e7532a
6:32010461 TNXB C>T	6	32010461	32010461	C	T	TNXB	c.12052+15G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010461C>T	(Likely) benign	2 labs	8d278d8392
1:26772797 DHDDS C>T	1	26772797	26772797	C	T	DHDDS	c.324-10C>T	NM_024887.4	NP_079163.2:p.?	NC_000001.10:g.26772797C>T	(Likely) benign	2 labs	8d340a4015
11:19207800 CSRP3 G>A	11	19207800	19207800	G	A	CSRP3	c.377C>T	NM_003476.5	NP_003467.1:p.(Ser126Leu)	NC_000011.9:g.19207800G>A	VUS	2 labs	8d3db9ebae
13:32937526 BRCA2 G>T	13	32937526	32937526	G	T	BRCA2	c.8187G>T	NM_000059.4	NP_000050.3:p.(Lys2729Asn)	NC_000013.10:g.32937526G>T	(Likely) benign	4 labs	8d4d0d0806
8:17137901 VPS37A G>A	8	17137901	17137901	G	A	VPS37A	c.918G>A	NM_152415.3	NP_689628.2:p.(Gln306=)	NC_000008.10:g.17137901G>A	(Likely) benign	2 labs	8d4fcadd38
9:136221515 SURF1 CGGCTGGCAG>C	9	136221515	136221524	CGGCTGGCAG	C	SURF1	c.313_321del	NM_003172.4	NP_003163.1:p.(Leu105_Ala107del)	NC_000009.11:g.136221516_136221524del	(Likely) pathogenic	4 labs	8d629e635a
1:43395537 SLC2A1 C>G	1	43395537	43395537	C	G	SLC2A1	c.679+7G>C	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43395537C>G	(Likely) benign	3 labs	8d69fe564e
10:97380947 ALDH18A1 C>T	10	97380947	97380947	C	T	ALDH18A1	c.1308G>A	NM_002860.4	NP_002851.2:p.(Leu436=)	NC_000010.10:g.97380947C>T	(Likely) benign	2 labs	8d714e0408
11:76909559 MYO7A C>T	11	76909559	76909559	C	T	MYO7A	c.4461C>T	NM_000260.4	NP_000251.3:p.(Asn1487=)	NC_000011.9:g.76909559C>T	(Likely) benign	2 labs	8d7e078f71
8:61765419 CHD7 G>A	8	61765419	61765419	G	A	CHD7	c.6135G>A	NM_017780.4	NP_060250.2:p.(Pro2045=)	NC_000008.10:g.61765419G>A	(Likely) benign	4 labs	8d813cfca5
5:110082001 SLC25A46 C>A	5	110082001	110082001	C	A	SLC25A46	c.416C>A	NM_138773.4	NP_620128.1:p.(Thr139Asn)	NC_000005.9:g.110082001C>A	VUS	2 labs	8d95488358
22:39627810 PDGFB C>T	22	39627810	39627810	C	T	PDGFB	c.273G>A	NM_002608.4	NP_002599.1:p.(Pro91=)	NC_000022.10:g.39627810C>T	(Likely) benign	2 labs	8d9788cfaa
3:53796121 CACNA1D C>G	3	53796121	53796121	C	G	CACNA1D	c.3930+13C>G	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53796121C>G	(Likely) benign	2 labs	8d99832f61
7:103180917 RELN C>T	7	103180917	103180917	C	T	RELN	c.6672-15G>A	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103180917C>T	(Likely) benign	2 labs	8da51dc351
2:179541999 TTN T>C	2	179541999	179541999	T	C	TTN	c.34307A>G	NM_001267550.2	NP_001254479.2:p.(Lys11436Arg)	NC_000002.11:g.179541999T>C	(Likely) benign	2 labs	8db0af2443
17:48263877 COL1A1 G>A	17	48263877	48263877	G	A	COL1A1	c.3815-9C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48263877G>A	(Likely) benign	2 labs	8db7a17818
7:91871373 KRIT1 C>T	7	91871373	91871373	C	T	KRIT1	c.77G>A	NM_194455.1	NP_919437.1:p.(Arg26Gln)	NC_000007.13:g.91871373C>T	(Likely) benign	3 labs	8db9c9b02c
1:3350309 PRDM16 C>T	1	3350309	3350309	C	T	PRDM16	c.3765C>T	NM_022114.4	NP_071397.3:p.(Asp1255=)	NC_000001.10:g.3350309C>T	(Likely) benign	2 labs	8dbb460b26
22:24158969 SMARCB1 C>T	22	24158969	24158969	C	T	SMARCB1	c.641C>T	NM_003073.5	NP_003064.2:p.(Thr214Met)	NC_000022.10:g.24158969C>T	VUS	2 labs	8dcdd2a754
5:178413255 GRM6 G>A	5	178413255	178413255	G	A	GRM6	c.2000C>T	NM_000843.4	NP_000834.2:p.(Ala667Val)	NC_000005.9:g.178413255G>A	VUS	2 labs	8dd2ef451d
4:126411594 FAT4 G>A	4	126411594	126411594	G	A	FAT4	c.13623G>A	NM_001291303.3	NP_001278232.1:p.(Glu4541=)	NC_000004.11:g.126411594G>A	(Likely) benign	2 labs	8dd4a305c9
5:36962273 NIPBL G>T	5	36962273	36962273	G	T	NIPBL	c.507G>T	NM_015384.5	NP_056199.2:p.(Gln169His)	NC_000005.9:g.36962273G>T	VUS	2 labs	8de11c33ee
11:108175509 ATM A>AT	11	108175509	108175514	A	AT	ATM	c.5609dup	NM_000051.4	NP_000042.3:p.(Thr1871HisfsTer33)	NC_000011.9:g.108175514dup	(Likely) pathogenic	2 labs	8de5ed1ff2
2:158655962 ACVR1 G>C	2	158655962	158655962	G	C	ACVR1	c.44C>G	NM_001105.5	NP_001096.1:p.(Ala15Gly)	NC_000002.11:g.158655962G>C	(Likely) benign	2 labs	8dee5eb954
2:48027394 MSH6 C>T	2	48027394	48027394	C	T	MSH6	c.2272C>T	NM_000179.3	NP_000170.1:p.(Leu758=)	NC_000002.11:g.48027394C>T	(Likely) benign	3 labs	8def10917f
2:189943819 COL5A2 G>A	2	189943819	189943819	G	A	COL5A2	c.975C>T	NM_000393.5	NP_000384.2:p.(Pro325=)	NC_000002.11:g.189943819G>A	(Likely) benign	2 labs	8df4ab8769
16:79632694 MAF G>C	16	79632694	79632694	G	C	MAF	c.1106C>G	NM_005360.5	NP_005351.2:p.(Pro369Arg)	NC_000016.9:g.79632694G>C	VUS	2 labs	8e006ade4f
2:179582781 TTN C>T	2	179582781	179582781	C	T	TTN	c.24952G>A	NM_001267550.2	NP_001254479.2:p.(Val8318Ile)	NC_000002.11:g.179582781C>T	(Likely) benign	5 labs	8e1165f933
16:89347612 ANKRD11 C>T	16	89347612	89347612	C	T	ANKRD11	c.5338G>A	NM_001256182.2	NP_001243111.1:p.(Ala1780Thr)	NC_000016.9:g.89347612C>T	(Likely) benign	2 labs	8e1a24109a
7:44146451 AEBP1 C>G	7	44146451	44146451	C	G	AEBP1	c.560C>G	NM_001129.5	NP_001120.3:p.(Pro187Arg)	NC_000007.13:g.44146451C>G	(Likely) benign	2 labs	8e38ecab69
3:132405181 NPHP3 T>C	3	132405181	132405181	T	C	NPHP3	c.3252A>G	NM_153240.5	NP_694972.3:p.(Thr1084=)	NC_000003.11:g.132405181T>C	(Likely) benign	4 labs	8e4f8ae22e
2:179584184 TTN TG>T	2	179584184	179584188	TG	T	TTN	c.20207-7del	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179584188del	(Likely) benign	3 labs	8e540c2d5c
13:52515357 ATP7B G>C	13	52515357	52515357	G	C	ATP7B	c.3416C>G	NM_000053.4	NP_000044.2:p.(Ala1139Gly)	NC_000013.10:g.52515357G>C	(Likely) benign	2 labs	8e5e14866b
19:16606821 CALR3 C>T	19	16606821	16606821	C	T	CALR3	c.91+29G>A	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606821C>T	(Likely) benign	2 labs	8e5fdc58a6
10:88676992 BMPR1A G>A	10	88676992	88676992	G	A	BMPR1A	c.777G>A	NM_004329.3	NP_004320.2:p.(Ala259=)	NC_000010.10:g.88676992G>A	(Likely) benign	2 labs	8e687c8f0c
11:68115514 LRP5 C>T	11	68115514	68115514	C	T	LRP5	c.291C>T	NM_002335.4	NP_002326.2:p.(Ala97=)	NC_000011.9:g.68115514C>T	(Likely) benign	3 labs	8e6deb5637
12:50500678 GPD1 T>C	12	50500678	50500678	T	C	GPD1	c.590T>C	NM_005276.4	NP_005267.2:p.(Val197Ala)	NC_000012.11:g.50500678T>C	VUS	2 labs	8e72361398
2:179518979 TTN A>G	2	179518979	179518979	A	G	TTN	c.38336T>C	NM_001267550.2	NP_001254479.2:p.(Val12779Ala)	NC_000002.11:g.179518979A>G	(Likely) benign	4 labs	8e762e17bd
2:179400832 TTN A>G	2	179400832	179400832	A	G	TTN	c.100642T>C	NM_001267550.2	NP_001254479.2:p.(Phe33548Leu)	NC_000002.11:g.179400832A>G	VUS	2 labs	8e770fa22f
2:44051345 ABCG5 G>C	2	44051345	44051345	G	C	ABCG5	c.1118+13C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051345G>C	(Likely) benign	2 labs	8e7800d5f4
10:92678742 ANKRD1 TAAATAA>T	10	92678742	92678749	TAAATAA	T	ANKRD1	c.346-19_346-14del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678749del	(Likely) benign	2 labs	8e977b57f6
16:89986091 MC1R G>A	16	89986091	89986091	G	A	MC1R	c.425G>A	NM_002386.4	NP_002377.4:p.(Arg142His)	NC_000016.9:g.89986091G>A	(Likely) benign	3 labs	8eac066ee8
17:41246483 BRCA1 C>T	17	41246483	41246483	C	T	BRCA1	c.1065G>A	NM_007294.4	NP_009225.1:p.(Lys355=)	NC_000017.10:g.41246483C>T	(Likely) benign	6 labs	8eb28e736b
10:68280359 CTNNA3 A>G	10	68280359	68280359	A	G	CTNNA3	c.1531+16T>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68280359A>G	(Likely) benign	2 labs	8eb8a2d18e
10:67680223 CTNNA3 C>T	10	67680223	67680223	C	T	CTNNA3	c.2553G>A	NM_013266.4	NP_037398.2:p.(Lys851=)	NC_000010.10:g.67680223C>T	(Likely) benign	3 labs	8eb987b16f
8:145741888 RECQL4 G>C	8	145741888	145741888	G	C	RECQL4	c.615C>G	NM_004260.4	NP_004251.4:p.(Pro205=)	NC_000008.10:g.145741888G>C	(Likely) benign	2 labs	8ebcce280e
9:35061695 VCP C>A	9	35061695	35061695	C	A	VCP	c.947-9G>T	NM_001354928.2	NP_001341857.1:p.?	NC_000009.11:g.35061695C>A	(Likely) benign	3 labs	8ebfecc97b
2:212488647 ERBB4 T>C	2	212488647	212488647	T	C	ERBB4	c.2202A>G	NM_005235.3	NP_005226.1:p.(Lys734=)	NC_000002.11:g.212488647T>C	(Likely) benign	2 labs	8ec64fbc01
7:81695842 CACNA2D1 T>TAA	7	81695842	81695858	T	TAA	CACNA2D1	c.659-4_659-3dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695857_81695858dup	(Likely) benign	2 labs	8ec99bc973
9:107589246 ABCA1 T>G	9	107589246	107589246	T	G	ABCA1	c.2320A>C	NM_005502.4	NP_005493.2:p.(Thr774Pro)	NC_000009.11:g.107589246T>G	(Likely) benign	2 labs	8ecbfb90a2
19:35530073 SCN1B T>C	19	35530073	35530073	T	C	SCN1B	c.501T>C	NM_001037.5	NP_001028.1:p.(Ile167=)	NC_000019.9:g.35530073T>C	(Likely) benign	3 labs	8ed3f9bfa6
19:50905096 POLD1 C>T	19	50905096	50905096	C	T	POLD1	c.378C>T	NM_001256849.1	NP_001243778.1:p.(Arg126=)	NC_000019.9:g.50905096C>T	(Likely) benign	4 labs	8ed5acba2a
12:32977004 PKP2 A>G	12	32977004	32977004	A	G	PKP2	c.1781T>C	NM_004572.4	NP_004563.2:p.(Ile594Thr)	NC_000012.11:g.32977004A>G	VUS	2 labs	8ed7ff5dae
11:121367573 SORL1 G>T	11	121367573	121367573	G	T	SORL1	c.759-5G>T	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121367573G>T	(Likely) benign	2 labs	8edcfdfd22
8:100883793 VPS13B C>T	8	100883793	100883793	C	T	VPS13B	c.11688C>T	NM_017890.5	NP_060360.3:p.(Phe3896=)	NC_000008.10:g.100883793C>T	(Likely) benign	3 labs	8ee0ef4fbc
2:179466785 TTN G>A	2	179466785	179466785	G	A	TTN	c.55213C>T	NM_001267550.2	NP_001254479.2:p.(Arg18405Cys)	NC_000002.11:g.179466785G>A	VUS	3 labs	8eeaf49b12
18:55247454 FECH G>A	18	55247454	55247454	G	A	FECH	c.-149-23C>T	NM_001371095.1	NP_001358024.1:p.?	NC_000018.9:g.55247454G>A	(Likely) benign	2 labs	8efb7071c7
18:29122618 DSG2 G>A	18	29122618	29122618	G	A	DSG2	c.2137G>A	NM_001943.5	NP_001934.2:p.(Glu713Lys)	NC_000018.9:g.29122618G>A	(Likely) benign	4 labs	8eff8e1395
1:236924323 ACTN2 C>T	1	236924323	236924323	C	T	ACTN2	c.1752C>T	NM_001278344.2	NP_001265273.1:p.(Ala584=)	NC_000001.10:g.236924323C>T	(Likely) benign	2 labs	8f14b850b6
2:179605940 TTN C>CCACT	2	179605940	179605944	C	CCACT	TTN	c.12016_12019dup	NM_001267550.2	NP_001254479.2:p.(Gly4007GlufsTer7)	NC_000002.11:g.179605941_179605944dup	(Likely) pathogenic	4 labs	8f1225c6d9
7:42063066 GLI3 C>T	7	42063066	42063066	C	T	GLI3	c.1497+1G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42063066C>T	(Likely) pathogenic	2 labs	8f1d23f6d3
10:75830554 VCL G>A	10	75830554	75830554	G	A	VCL	c.366G>A	NM_014000.3	NP_054706.1:p.(Leu122=)	NC_000010.10:g.75830554G>A	(Likely) benign	3 labs	8f21ea524a
3:38739755 SCN10A C>T	3	38739755	38739755	C	T	SCN10A	c.4956G>A	NM_006514.4	NP_006505.4:p.(Leu1652=)	NC_000003.11:g.38739755C>T	(Likely) benign	2 labs	8f23c35ece
14:105180977 INF2 G>A	14	105180977	105180977	G	A	INF2	c.3478G>A	NM_022489.4	NP_071934.3:p.(Gly1160Ser)	NC_000014.8:g.105180977G>A	(Likely) benign	2 labs	8f2a171ee1
2:179398414 TTN C>T	2	179398414	179398414	C	T	TTN	c.102928G>A	NM_001267550.2	NP_001254479.2:p.(Glu34310Lys)	NC_000002.11:g.179398414C>T	VUS	2 labs	8f2e9ee01f
X:50089734 CCNB3 C>T	X	50089734	50089734	C	T	CCNB3	c.3738C>T	NM_033031.3	NP_149020.2:p.(Ile1246=)	NC_000023.10:g.50089734C>T	(Likely) benign	2 labs	8f35f4c084
17:41244865 BRCA1 GTT>G	17	41244865	41244868	GTT	G	BRCA1	c.2681_2682del	NM_007294.4	NP_009225.1:p.(Lys894ThrfsTer8)	NC_000017.10:g.41244867_41244868del	(Likely) pathogenic	2 labs	8f3f111ffc
2:121728086 GLI2 C>G	2	121728086	121728086	C	G	GLI2	c.963C>G	NM_005270.5	NP_005261.2:p.(Pro321=)	NC_000002.11:g.121728086C>G	(Likely) benign	2 labs	8f43405a53
2:212576777 ERBB4 A>C	2	212576777	212576777	A	C	ERBB4	c.1122T>G	NM_005235.3	NP_005226.1:p.(His374Gln)	NC_000002.11:g.212576777A>C	(Likely) benign	3 labs	8f46c1912f
15:65942932 SLC24A1 C>T	15	65942932	65942932	C	T	SLC24A1	c.2445C>T	NM_004727.3	NP_004718.1:p.(His815=)	NC_000015.9:g.65942932C>T	(Likely) benign	2 labs	8f47b994f1
6:135787184 AHI1 C>T	6	135787184	135787184	C	T	AHI1	c.517G>A	NM_001134831.2	NP_001128303.1:p.(Ala173Thr)	NC_000006.11:g.135787184C>T	(Likely) benign	2 labs	8f53b070bc
13:52532627 ATP7B C>T	13	52532627	52532627	C	T	ATP7B	c.2175G>A	NM_000053.4	NP_000044.2:p.(Arg725=)	NC_000013.10:g.52532627C>T	(Likely) benign	3 labs	8f587fad18
11:17552707 USH1C C>A	11	17552707	17552707	C	A	USH1C	c.381G>T	NM_153676.4	NP_710142.1:p.(Gly127=)	NC_000011.9:g.17552707C>A	(Likely) benign	2 labs	8f5c26e8da
12:89864185 POC1B G>A	12	89864185	89864185	G	A	POC1B	c.763C>T	NM_172240.3	NP_758440.1:p.(Leu255=)	NC_000012.11:g.89864185G>A	(Likely) benign	2 labs	8f5da531c3
16:15815351 MYH11 G>A	16	15815351	15815351	G	A	MYH11	c.4506C>T	NM_002474.3	NP_002465.1:p.(Leu1502=)	NC_000016.9:g.15815351G>A	(Likely) benign	3 labs	8f61b57478
9:139404349 NOTCH1 G>A	9	139404349	139404349	G	A	NOTCH1	c.2805C>T	NM_017617.5	NP_060087.3:p.(Pro935=)	NC_000009.11:g.139404349G>A	(Likely) benign	4 labs	8f6230e0d2
11:108098334 ATM G>A	11	108098334	108098334	G	A	ATM	c.-18G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098334G>A	(Likely) benign	2 labs	8f713b1131
13:32903581 BRCA2 CAG>C	13	32903581	32903584	CAG	C	BRCA2	c.635_636del	NM_000059.4	NP_000050.3:p.(Arg212LysfsTer2)	NC_000013.10:g.32903583_32903584del	(Likely) pathogenic	5 labs	8f703756de
19:38948856 RYR1 C>T	19	38948856	38948856	C	T	RYR1	c.2091C>T	NM_000540.3	NP_000531.2:p.(Ala697=)	NC_000019.9:g.38948856C>T	(Likely) benign	4 labs	8f75fe2ad7
10:112559642 RBM20 G>T	10	112559642	112559642	G	T	RBM20	c.1766G>T	NM_001134363.3	NP_001127835.2:p.(Arg589Leu)	NC_000010.10:g.112559642G>T	VUS	2 labs	8f7fa2c2bd
8:133192492 KCNQ3 C>T	8	133192492	133192492	C	T	KCNQ3	c.689G>A	NM_004519.4	NP_004510.1:p.(Arg230His)	NC_000008.10:g.133192492C>T	(Likely) pathogenic	2 labs	8f7ddd8f9a
9:133759882 ABL1 G>A	9	133759882	133759882	G	A	ABL1	c.2205G>A	NM_005157.6	NP_005148.2:p.(Thr735=)	NC_000009.11:g.133759882G>A	(Likely) benign	2 labs	8f82784a09
5:16617063 RETREG1 A>C	5	16617063	16617063	A	C	RETREG1	c.18T>G	NM_001034850.3	NP_001030022.1:p.(Pro6=)	NC_000005.9:g.16617063A>C	(Likely) benign	2 labs	8f92a23b93
1:216495263 USH2A A>G	1	216495263	216495263	A	G	USH2A	c.1606T>C	NM_206933.4	NP_996816.3:p.(Cys536Arg)	NC_000001.10:g.216495263A>G	(Likely) pathogenic	2 labs	8f95d43acb
2:179474397 TTN G>T	2	179474397	179474397	G	T	TTN	c.51739+14C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179474397G>T	(Likely) benign	2 labs	8fa5094a5d
6:119137423 MCM9 G>A	6	119137423	119137423	G	A	MCM9	c.1996C>T	NM_017696.3	NP_060166.2:p.(Arg666Trp)	NC_000006.11:g.119137423G>A	(Likely) benign	3 labs	8fa8dab8f0
15:73009208 BBS4 C>T	15	73009208	73009208	C	T	BBS4	c.405+17C>T	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73009208C>T	(Likely) benign	2 labs	8fb7c8f260
2:179468605 TTN A>G	2	179468605	179468605	A	G	TTN	c.47105T>C	NM_133378.4	NP_596869.4:p.(Ile15702Thr)	NC_000002.11:g.179468605A>G	VUS	2 labs	8fb8bef371
11:73753268 C2CD3 CAAA>C	11	73753268	73753287	CAAA	C	C2CD3	c.5496-8_5496-6del	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73753285_73753287del	(Likely) benign	2 labs	8fbf7b360d
7:103205827 RELN G>C	7	103205827	103205827	G	C	RELN	c.5108C>G	NM_005045.4	NP_005036.2:p.(Pro1703Arg)	NC_000007.13:g.103205827G>C	(Likely) benign	2 labs	8fc0120125
3:193333531 OPA1 G>T	3	193333531	193333531	G	T	OPA1	c.420G>T	NM_130837.3	NP_570850.2:p.(Val140=)	NC_000003.11:g.193333531G>T	(Likely) benign	3 labs	8fcb18b4f3
12:2675637 CACNA1C G>A	12	2675637	2675637	G	A	CACNA1C	c.1558G>A	NM_199460.4	NP_955630.3:p.(Ala520Thr)	NC_000012.11:g.2675637G>A	VUS	2 labs	8fe05eeb06
3:148925398 CP T>C	3	148925398	148925398	T	C	CP	c.788A>G	NM_000096.4	NP_000087.2:p.(Asn263Ser)	NC_000003.11:g.148925398T>C	VUS	3 labs	8feeeef4aa
5:112178706 APC C>T	5	112178706	112178706	C	T	APC	c.7415C>T	NM_000038.6	NP_000029.2:p.(Ala2472Val)	NC_000005.9:g.112178706C>T	(Likely) benign	2 labs	8ff48e89ab
1:94495000 ABCA4 C>A	1	94495000	94495000	C	A	ABCA4	c.4539+1G>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94495000C>A	(Likely) pathogenic	2 labs	8ffafba391
9:113496568 MUSK T>C	9	113496568	113496568	T	C	MUSK	c.666T>C	NM_005592.4	NP_005583.1:p.(Asn222=)	NC_000009.11:g.113496568T>C	(Likely) benign	3 labs	8ffd6908cb
2:179418112 TTN T>C	2	179418112	179418112	T	C	TTN	c.89515A>G	NM_001267550.2	NP_001254479.2:p.(Ile29839Val)	NC_000002.11:g.179418112T>C	VUS	2 labs	8ffec04695
11:68673715 IGHMBP2 G>A	11	68673715	68673715	G	A	IGHMBP2	c.256+9G>A	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68673715G>A	(Likely) benign	2 labs	900437408f
2:179473421 TTN T>C	2	179473421	179473421	T	C	TTN	c.52317A>G	NM_001267550.2	NP_001254479.2:p.(Lys17439=)	NC_000002.11:g.179473421T>C	(Likely) benign	2 labs	900836a18f
6:7583892 DSP G>A	6	7583892	7583892	G	A	DSP	c.6397G>A	NM_004415.4	NP_004406.2:p.(Gly2133Ser)	NC_000006.11:g.7583892G>A	VUS	3 labs	90111d5213
4:100543993 MTTP C>T	4	100543993	100543993	C	T	MTTP	c.2673C>T	NM_000253.4	NP_000244.2:p.(Ser891=)	NC_000004.11:g.100543993C>T	(Likely) benign	2 labs	9018c18a5d
2:179447926 TTN A>G	2	179447926	179447926	A	G	TTN	c.65604T>C	NM_001267550.2	NP_001254479.2:p.(Ala21868=)	NC_000002.11:g.179447926A>G	(Likely) benign	2 labs	9020f48c80
12:2794965 CACNA1C C>A	12	2794965	2794965	C	A	CACNA1C	c.5886C>A	NM_199460.4	NP_955630.3:p.(Ile1962=)	NC_000012.11:g.2794965C>A	(Likely) benign	2 labs	902140fdea
6:110012714 FIG4 C>T	6	110012714	110012714	C	T	FIG4	c.66+10C>T	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110012714C>T	(Likely) benign	3 labs	902b475906
17:41245586 BRCA1 CT>C	17	41245586	41245594	CT	C	BRCA1	c.1961del	NM_007294.4	NP_009225.1:p.(Lys654SerfsTer47)	NC_000017.10:g.41245594del	(Likely) pathogenic	5 labs	9027d1156a
3:38766755 SCN10A C>T	3	38766755	38766755	C	T	SCN10A	c.3138G>A	NM_006514.4	NP_006505.4:p.(Arg1046=)	NC_000003.11:g.38766755C>T	(Likely) benign	2 labs	903c5b463e
14:73683960 PSEN1 T>C	14	73683960	73683960	T	C	PSEN1	c.1248+8T>C	NM_000021.4	NP_000012.1:p.?	NC_000014.8:g.73683960T>C	(Likely) benign	2 labs	9042bad45f
5:127686650 FBN2 C>T	5	127686650	127686650	C	T	FBN2	c.2722G>A	NM_001999.4	NP_001990.2:p.(Glu908Lys)	NC_000005.9:g.127686650C>T	VUS	3 labs	904fbe64d1
2:44079755 ABCG8 G>A	2	44079755	44079755	G	A	ABCG8	c.712G>A	NM_022437.3	NP_071882.1:p.(Glu238Lys)	NC_000002.11:g.44079755G>A	VUS	2 labs	9062031756
12:112888199 PTPN11 C>G	12	112888199	112888199	C	G	PTPN11	c.215C>G	NM_002834.5	NP_002825.3:p.(Ala72Gly)	NC_000012.11:g.112888199C>G	(Likely) pathogenic	2 labs	90698b61b4
16:16259762 ABCC6 C>T	16	16259762	16259762	C	T	ABCC6	c.3024G>A	NM_001171.6	NP_001162.5:p.(Ala1008=)	NC_000016.9:g.16259762C>T	(Likely) benign	2 labs	906e4dfbad
4:88537509 DSPP A>G	4	88537509	88537509	A	G	DSPP	c.3695A>G	NM_014208.3	NP_055023.2:p.(Asn1232Ser)	NC_000004.11:g.88537509A>G	(Likely) benign	3 labs	90968d95dd
19:50905877 POLD1 G>T	19	50905877	50905877	G	T	POLD1	c.849G>T	NM_001256849.1	NP_001243778.1:p.(Gln283His)	NC_000019.9:g.50905877G>T	(Likely) benign	3 labs	909bc8373a
11:108202764 ATM G>A	11	108202764	108202764	G	A	ATM	c.7788G>A	NM_000051.4	NP_000042.3:p.(Glu2596=)	NC_000011.9:g.108202764G>A	(Likely) pathogenic	3 labs	909c3097ed
8:117866718 RAD21 A>G	8	117866718	117866718	A	G	RAD21	c.938-11T>C	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117866718A>G	(Likely) benign	2 labs	909e9fe4ab
10:95422842 PDE6C A>C	10	95422842	95422842	A	C	PDE6C	c.2425A>C	NM_006204.4	NP_006195.3:p.(Arg809=)	NC_000010.10:g.95422842A>C	(Likely) benign	2 labs	909f58dd18
2:74590516 DCTN1 G>A	2	74590516	74590516	G	A	DCTN1	c.3250C>T	NM_004082.5	NP_004073.2:p.(Pro1084Ser)	NC_000002.11:g.74590516G>A	VUS	2 labs	90a38de77d
3:10115033 FANCD2 G>T	3	10115033	10115033	G	T	FANCD2	c.2702G>T	NM_033084.6	NP_149075.2:p.(Gly901Val)	NC_000003.11:g.10115033G>T	(Likely) benign	2 labs	90a57b46fe
17:62034787 SCN4A G>A	17	62034787	62034787	G	A	SCN4A	c.2111C>T	NM_000334.4	NP_000325.4:p.(Thr704Met)	NC_000017.10:g.62034787G>A	(Likely) pathogenic	2 labs	90a7d1d389
7:128492997 FLNC C>T	7	128492997	128492997	C	T	FLNC	c.6120C>T	NM_001458.5	NP_001449.3:p.(Asp2040=)	NC_000007.13:g.128492997C>T	(Likely) benign	2 labs	90ac5575be
12:133256100 POLE G>A	12	133256100	133256100	G	A	POLE	c.561C>T	NM_006231.4	NP_006222.2:p.(Tyr187=)	NC_000012.11:g.133256100G>A	(Likely) benign	2 labs	90bb2956a3
10:68940075 CTNNA3 G>A	10	68940075	68940075	G	A	CTNNA3	c.1047C>T	NM_013266.4	NP_037398.2:p.(Asn349=)	NC_000010.10:g.68940075G>A	(Likely) benign	4 labs	90c186f971
2:179641961 TTN CTTTCA>C	2	179641961	179641971	CTTTCA	C	TTN	c.4724_4728del	NM_001267550.2	NP_001254479.2:p.(Met1575SerfsTer6)	NC_000002.11:g.179641967_179641971del	(Likely) pathogenic	2 labs	90c892ce1e
9:111659277 ELP1 G>T	9	111659277	111659277	G	T	ELP1	c.2543C>A	NM_003640.5	NP_003631.2:p.(Thr848Asn)	NC_000009.11:g.111659277G>T	(Likely) benign	2 labs	90ca960746
5:127595153 FBN2 G>C	5	127595153	127595153	G	C	FBN2	c.8733C>G	NM_001999.4	NP_001990.2:p.(Leu2911=)	NC_000005.9:g.127595153G>C	(Likely) benign	2 labs	90d1f45682
18:6942195 LAMA1 G>A	18	6942195	6942195	G	A	LAMA1	c.9111C>T	NM_005559.4	NP_005550.2:p.(Arg3037=)	NC_000018.9:g.6942195G>A	(Likely) benign	2 labs	90daac19ac
11:103036734 DYNC2H1 A>G	11	103036734	103036734	A	G	DYNC2H1	c.4719A>G	NM_001080463.2	NP_001073932.1:p.(Gln1573=)	NC_000011.9:g.103036734A>G	(Likely) benign	3 labs	90deb4e67e
12:21968727 ABCC9 G>A	12	21968727	21968727	G	A	ABCC9	c.3993C>T	NM_020297.4	NP_064693.2:p.(His1331=)	NC_000012.11:g.21968727G>A	(Likely) benign	2 labs	90e102cd96
16:23649446 PALB2 T>C	16	23649446	23649446	T	C	PALB2	c.53A>G	NM_024675.4	NP_078951.2:p.(Lys18Arg)	NC_000016.9:g.23649446T>C	(Likely) benign	5 labs	90e27a9bcf
15:73004566 BBS4 A>G	15	73004566	73004566	A	G	BBS4	c.157-19A>G	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73004566A>G	(Likely) benign	2 labs	90e5688be6
5:140998351 DIAPH1 G>A	5	140998351	140998351	G	A	DIAPH1	c.117+14C>T	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140998351G>A	(Likely) benign	2 labs	90f38e0ff9
11:47356632 MYBPC3 CAG>C	11	47356632	47356634	CAG	C	MYBPC3	c.2864_2865del	NM_000256.3	NP_000247.2:p.(Pro955ArgfsTer95)	NC_000011.9:g.47356633_47356634del	(Likely) pathogenic	5 labs	910e8f25a1
9:137619218 COL5A1 C>T	9	137619218	137619218	C	T	COL5A1	c.761C>T	NM_000093.5	NP_000084.3:p.(Ser254Leu)	NC_000009.11:g.137619218C>T	(Likely) benign	2 labs	910cf023d7
16:28503036 CLN3 C>T	16	28503036	28503036	C	T	CLN3	c.45G>A	NM_001042432.2	NP_001035897.1:p.(Glu15=)	NC_000016.9:g.28503036C>T	(Likely) benign	2 labs	910e92515f
11:108114741 ATM A>G	11	108114741	108114741	A	G	ATM	c.558A>G	NM_000051.4	NP_000042.3:p.(Leu186=)	NC_000011.9:g.108114741A>G	(Likely) benign	2 labs	9118a370ae
2:152381033 NEB C>G	2	152381033	152381033	C	G	NEB	c.22475G>C	NM_001271208.2	NP_001258137.2:p.(Ser7492Thr)	NC_000002.11:g.152381033C>G	VUS	2 labs	9119189ba5
19:11348463 DOCK6 A>T	19	11348463	11348463	A	T	DOCK6	c.1833-8T>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11348463A>T	(Likely) benign	2 labs	911ad73dc0
6:7559558 DSP T>C	6	7559558	7559558	T	C	DSP	c.522T>C	NM_004415.4	NP_004406.2:p.(Cys174=)	NC_000006.11:g.7559558T>C	(Likely) benign	2 labs	912f120626
2:179425416 TTN T>C	2	179425416	179425416	T	C	TTN	c.85443A>G	NM_001267550.2	NP_001254479.2:p.(Ala28481=)	NC_000002.11:g.179425416T>C	(Likely) benign	2 labs	9123f6a0af
2:219677301 CYP27A1 C>T	2	219677301	219677301	C	T	CYP27A1	c.673C>T	NM_000784.4	NP_000775.1:p.(Arg225Cys)	NC_000002.11:g.219677301C>T	(Likely) benign	2 labs	91323af6a5
17:8140757 CTC1 GCTTT>G	17	8140757	8140763	GCTTT	G	CTC1	c.724_727del	NM_025099.6	NP_079375.3:p.(Lys242LeufsTer41)	NC_000017.10:g.8140760_8140763del	(Likely) pathogenic	2 labs	91345f27ef
1:180849412 XPR1 G>A	1	180849412	180849412	G	A	XPR1	c.2009G>A	NM_004736.4	NP_004727.2:p.(Arg670His)	NC_000001.10:g.180849412G>A	(Likely) benign	2 labs	91466ad671
1:6008224 NPHP4 T>C	1	6008224	6008224	T	C	NPHP4	c.898A>G	NM_015102.5	NP_055917.1:p.(Arg300Gly)	NC_000001.10:g.6008224T>C	VUS	2 labs	914673e766
1:237604607 RYR2 C>T	1	237604607	237604607	C	T	RYR2	c.1006-12C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237604607C>T	(Likely) benign	3 labs	9147c855fa
2:179434516 TTN C>T	2	179434516	179434516	C	T	TTN	c.76343G>A	NM_001267550.2	NP_001254479.2:p.(Ser25448Asn)	NC_000002.11:g.179434516C>T	(Likely) benign	3 labs	915f8391d3
8:1806214 ARHGEF10 G>A	8	1806214	1806214	G	A	ARHGEF10	c.198G>A	NM_001308153.2	NP_001295082.1:p.(Ala66=)	NC_000008.10:g.1806214G>A	(Likely) benign	2 labs	916161ff6b
3:38888524 SCN11A G>A	3	38888524	38888524	G	A	SCN11A	c.5037C>T	NM_014139.3	NP_054858.2:p.(Arg1679=)	NC_000003.11:g.38888524G>A	(Likely) benign	2 labs	9163260009
5:73207372 ARHGEF28 T>A	5	73207372	73207372	T	A	ARHGEF28	c.4920T>A	NM_001080479.3	NP_001073948.2:p.(His1640Gln)	NC_000005.9:g.73207372T>A	(Likely) benign	2 labs	916bb6e148
X:13776576 OFD1 C>T	X	13776576	13776576	C	T	OFD1	c.1234+9C>T	NM_001330210.2	NP_001317139.1:p.?	NC_000023.10:g.13776576C>T	(Likely) benign	2 labs	9171a45bc6
7:128478090 FLNC A>G	7	128478090	128478090	A	G	FLNC	c.1019A>G	NM_001458.5	NP_001449.3:p.(Tyr340Cys)	NC_000007.13:g.128478090A>G	VUS	2 labs	9172c27b40
3:32181812 GPD1L C>T	3	32181812	32181812	C	T	GPD1L	c.459C>T	NM_015141.4	NP_055956.1:p.(Asn153=)	NC_000003.11:g.32181812C>T	(Likely) benign	3 labs	91801d76f2
13:20763582 GJB2 C>A	13	20763582	20763582	C	A	GJB2	c.139G>T	NM_004004.6	NP_003995.2:p.(Glu47Ter)	NC_000013.10:g.20763582C>A	(Likely) pathogenic	2 labs	918d5687c6
17:6330216 AIPL1 C>T	17	6330216	6330216	C	T	AIPL1	c.627G>A	NM_014336.5	NP_055151.3:p.(Arg209=)	NC_000017.10:g.6330216C>T	(Likely) benign	2 labs	9195a22739
9:34649029 GALT G>T	9	34649029	34649029	G	T	GALT	c.855G>T	NM_000155.4	NP_000146.2:p.(Lys285Asn)	NC_000009.11:g.34649029G>T	(Likely) pathogenic	4 labs	9196218d17
X:27765399 DCAF8L2 AGAGGAGGAGGAG>A	X	27765399	27765446	AGAGGAGGAGGAG	A	DCAF8L2	c.423_434del	NM_001353448.2	NP_001340377.1:p.(Glu144_Glu147del)	NC_000023.10:g.27765435_27765446del	(Likely) benign	2 labs	919886db50
13:32912563 BRCA2 A>C	13	32912563	32912563	A	C	BRCA2	c.4071A>C	NM_000059.4	NP_000050.3:p.(Leu1357=)	NC_000013.10:g.32912563A>C	(Likely) benign	3 labs	919bd0b692
17:41258486 BRCA1 C>A	17	41258486	41258486	C	A	BRCA1	c.199G>T	NM_007294.4	NP_009225.1:p.(Asp67Tyr)	NC_000017.10:g.41258486C>A	(Likely) benign	5 labs	91a0428940
16:86601049 FOXC2 C>T	16	86601049	86601049	C	T	FOXC2	c.108C>T	NM_005251.3	NP_005242.1:p.(Ser36=)	NC_000016.9:g.86601049C>T	(Likely) benign	2 labs	91a300e0f2
17:7909890 GUCY2D C>T	17	7909890	7909890	C	T	GUCY2D	c.1236C>T	NM_000180.4	NP_000171.1:p.(Asp412=)	NC_000017.10:g.7909890C>T	(Likely) benign	2 labs	91ab72b660
2:136148394 ZRANB3 GA>G	2	136148394	136148413	GA	G	ZRANB3	c.-1296-5del	NM_001286569.1	NP_001273498.1:p.?	NC_000002.11:g.136148413del	(Likely) benign	2 labs	91ac109899
12:110019209 MVK G>A	12	110019209	110019209	G	A	MVK	c.381G>A	NM_000431.4	NP_000422.1:p.(Pro127=)	NC_000012.11:g.110019209G>A	(Likely) benign	2 labs	91afa54535
10:18823073 CACNB2 G>A	10	18823073	18823073	G	A	CACNB2	c.1039G>A	NM_201571.4	NP_963865.2:p.(Ala347Thr)	NC_000010.10:g.18823073G>A	VUS	3 labs	91b2d722c6
2:179476303 TTN T>C	2	179476303	179476303	T	C	TTN	c.50653A>G	NM_001267550.2	NP_001254479.2:p.(Ile16885Val)	NC_000002.11:g.179476303T>C	VUS	2 labs	91b4307360
1:237550567 RYR2 G>A	1	237550567	237550567	G	A	RYR2	c.577-14G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237550567G>A	(Likely) benign	2 labs	91c8b8ae6e
5:94803618 SKIC3 C>T	5	94803618	94803618	C	T	SKIC3	c.4572G>A	NM_014639.4	NP_055454.1:p.(Trp1524Ter)	NC_000005.9:g.94803618C>T	(Likely) pathogenic	2 labs	91d91acdc1
1:74957853 TNNI3K C>T	1	74957853	74957853	C	T	TNNI3K	c.2254C>T	NM_015978.3	NP_057062.1:p.(Arg752Trp)	NC_000001.10:g.74957853C>T	VUS	3 labs	91d5bdc775
X:49083151 CACNA1F G>A	X	49083151	49083151	G	A	CACNA1F	c.1323C>T	NM_005183.4	NP_005174.2:p.(Ala441=)	NC_000023.10:g.49083151G>A	(Likely) benign	2 labs	91e33834b8
16:53675264 RPGRIP1L A>C	16	53675264	53675264	A	C	RPGRIP1L	c.2807T>G	NM_015272.5	NP_056087.2:p.(Ile936Ser)	NC_000016.9:g.53675264A>C	(Likely) benign	2 labs	91ea73fc79
19:35524461 SCN1B G>A	19	35524461	35524461	G	A	SCN1B	c.266G>A	NM_001037.5	NP_001028.1:p.(Arg89His)	NC_000019.9:g.35524461G>A	VUS	2 labs	91f43cb4b6
15:67473790 SMAD3 C>T	15	67473790	67473790	C	T	SMAD3	c.870C>T	NM_005902.4	NP_005893.1:p.(Ile290=)	NC_000015.9:g.67473790C>T	(Likely) benign	4 labs	920556c72b
4:126336212 FAT4 A>G	4	126336212	126336212	A	G	FAT4	c.6094A>G	NM_001291303.3	NP_001278232.1:p.(Thr2032Ala)	NC_000004.11:g.126336212A>G	VUS	2 labs	9205e36164
6:42626564 UBR2 TAA>T	6	42626564	42626584	TAA	T	UBR2	c.3242+21_3242+22del	NM_015255.3	NP_056070.1:p.?	NC_000006.11:g.42626583_42626584del	(Likely) benign	2 labs	920fdfb5f1
6:65301640 EYS G>A	6	65301640	65301640	G	A	EYS	c.4120C>T	NM_001292009.1	NP_001278938.1:p.(Arg1374Ter)	NC_000006.11:g.65301640G>A	(Likely) pathogenic	2 labs	9212678d31
11:118375998 KMT2A G>A	11	118375998	118375998	G	A	KMT2A	c.9391G>A	NM_001197104.2	NP_001184033.1:p.(Gly3131Ser)	NC_000011.9:g.118375998G>A	(Likely) benign	2 labs	921960bc1b
9:27566831 C9orf72 T>C	9	27566831	27566831	T	C	C9orf72	c.288A>G	NM_001256054.3	NP_001242983.1:p.(Ser96=)	NC_000009.11:g.27566831T>C	(Likely) benign	2 labs	921b18ae43
5:149460369 CSF1R G>T	5	149460369	149460369	G	T	CSF1R	c.268C>A	NM_005211.4	NP_005202.2:p.(Pro90Thr)	NC_000005.9:g.149460369G>T	(Likely) benign	3 labs	92213408a9
2:190044298 COL5A2 G>A	2	190044298	190044298	G	A	COL5A2	c.33C>T	NM_000393.5	NP_000384.2:p.(Leu11=)	NC_000002.11:g.190044298G>A	(Likely) benign	2 labs	9228126814
5:147774426 FBXO38 T>C	5	147774426	147774426	T	C	FBXO38	c.87T>C	NM_030793.5	NP_110420.3:p.(Tyr29=)	NC_000005.9:g.147774426T>C	(Likely) benign	2 labs	922c70b5f6
19:12921120 RNASEH2A T>C	19	12921120	12921120	T	C	RNASEH2A	c.550-11T>C	NM_006397.3	NP_006388.2:p.?	NC_000019.9:g.12921120T>C	(Likely) benign	2 labs	922cef4e43
19:15289763 NOTCH3 G>A	19	15289763	15289763	G	A	NOTCH3	c.3719-11C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15289763G>A	(Likely) benign	2 labs	922f6c5fcd
11:45959759 PHF21A A>AG	11	45959759	45959765	A	AG	PHF21A	c.1553dup	NM_001101802.3	NP_001095272.1:p.(Leu519SerfsTer53)	NC_000011.9:g.45959765dup	(Likely) pathogenic	2 labs	923cfcc053
2:179451362 TTN T>G	2	179451362	179451362	T	G	TTN	c.64266A>C	NM_001267550.2	NP_001254479.2:p.(Lys21422Asn)	NC_000002.11:g.179451362T>G	VUS	2 labs	9242c604c0
1:120468128 NOTCH2 G>A	1	120468128	120468128	G	A	NOTCH2	c.4311C>T	NM_024408.4	NP_077719.2:p.(Gly1437=)	NC_000001.10:g.120468128G>A	(Likely) benign	2 labs	9251442a8c
6:33139529 COL11A2 C>A	6	33139529	33139529	C	A	COL11A2	c.3111G>T	NM_080680.3	NP_542411.2:p.(Pro1037=)	NC_000006.11:g.33139529C>A	(Likely) benign	3 labs	925fd134c8
20:4680238 PRNP C>G	20	4680238	4680238	C	G	PRNP	c.372C>G	NM_000311.5	NP_000302.1:p.(Gly124=)	NC_000020.10:g.4680238C>G	(Likely) benign	2 labs	9266fece23
11:67810474 TCIRG1 G>A	11	67810474	67810474	G	A	TCIRG1	c.479G>A	NM_006019.4	NP_006010.2:p.(Gly160Glu)	NC_000011.9:g.67810474G>A	(Likely) benign	2 labs	9268c9af2d
10:73569677 CDH23 C>T	10	73569677	73569677	C	T	CDH23	c.8823C>T	NM_022124.6	NP_071407.4:p.(Asn2941=)	NC_000010.10:g.73569677C>T	(Likely) benign	2 labs	926adda370
2:179613494 TTN C>T	2	179613494	179613494	C	T	TTN	c.13633G>A	NM_133379.5	NP_596870.2:p.(Ala4545Thr)	NC_000002.11:g.179613494C>T	(Likely) benign	3 labs	926bda40b4
10:73406448 CDH23 G>T	10	73406448	73406448	G	T	CDH23	c.1523G>T	NM_052836.4	NP_443068.1:p.(Cys508Phe)	NC_000010.10:g.73406448G>T	(Likely) benign	3 labs	9273bc7e23
16:68845687 CDH1 C>G	16	68845687	68845687	C	G	CDH1	c.933C>G	NM_004360.5	NP_004351.1:p.(Leu311=)	NC_000016.9:g.68845687C>G	(Likely) benign	2 labs	927859c586
11:47371331 MYBPC3 G>A	11	47371331	47371331	G	A	MYBPC3	c.648C>T	NM_000256.3	NP_000247.2:p.(Ala216=)	NC_000011.9:g.47371331G>A	(Likely) benign	2 labs	9280f35134
X:39923713 BCOR G>A	X	39923713	39923713	G	A	BCOR	c.3378C>T	NM_001123385.2	NP_001116857.1:p.(His1126=)	NC_000023.10:g.39923713G>A	(Likely) benign	2 labs	928488f4da
13:39338612 FREM2 T>C	13	39338612	39338612	T	C	FREM2	c.5410+25T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39338612T>C	(Likely) benign	2 labs	928756e3a2
2:179498042 TTN T>C	2	179498042	179498042	T	C	TTN	c.42958A>G	NM_001267550.2	NP_001254479.2:p.(Lys14320Glu)	NC_000002.11:g.179498042T>C	(Likely) benign	4 labs	929510ce54
17:41215926 BRCA1 C>G	17	41215926	41215926	C	G	BRCA1	c.5117G>C	NM_007294.4	NP_009225.1:p.(Gly1706Ala)	NC_000017.10:g.41215926C>G	(Likely) benign	5 labs	9296497355
17:40690792 NAGLU C>G	17	40690792	40690792	C	G	NAGLU	c.764+19C>G	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40690792C>G	(Likely) benign	2 labs	9299f4155d
2:179455207 TTN T>C	2	179455207	179455207	T	C	TTN	c.61245A>G	NM_001267550.2	NP_001254479.2:p.(Thr20415=)	NC_000002.11:g.179455207T>C	(Likely) benign	4 labs	92afdd9a47
6:42672285 PRPH2 G>A	6	42672285	42672285	G	A	PRPH2	c.646C>T	NM_000322.5	NP_000313.2:p.(Pro216Ser)	NC_000006.11:g.42672285G>A	(Likely) pathogenic	2 labs	92ae54e6d5
13:110845222 COL4A1 C>T	13	110845222	110845222	C	T	COL4A1	c.1420G>A	NM_001845.6	NP_001836.3:p.(Gly474Arg)	NC_000013.10:g.110845222C>T	VUS	3 labs	92baf28542
6:152779933 SYNE1 G>A	6	152779933	152779933	G	A	SYNE1	c.2527C>T	NM_182961.4	NP_892006.3:p.(Arg843Cys)	NC_000006.11:g.152779933G>A	(Likely) benign	4 labs	92c857800d
11:2594106 KCNQ1 C>T	11	2594106	2594106	C	T	KCNQ1	c.811C>T	NM_000218.3	NP_000209.2:p.(Leu271=)	NC_000011.9:g.2594106C>T	(Likely) benign	3 labs	92cb67f8e1
21:47409502 COL6A1 C>T	21	47409502	47409502	C	T	COL6A1	c.859-20C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47409502C>T	(Likely) benign	2 labs	92d55e2953
12:7244286 C1R C>T	12	7244286	7244286	C	T	C1R	c.3-10G>A	NM_001733.7	NP_001724.4:p.?	NC_000012.11:g.7244286C>T	(Likely) benign	2 labs	92de05c02b
5:90151630 ADGRV1 CAT>C	5	90151630	90151632	CAT	C	ADGRV1	c.17668_17669del	NM_032119.4	NP_115495.3:p.(Met5890ValfsTer10)	NC_000005.9:g.90151631_90151632del	(Likely) pathogenic	4 labs	92f6b80d31
13:32900279 BRCA2 A>C	13	32900279	32900279	A	C	BRCA2	c.467A>C	NM_000059.4	NP_000050.3:p.(Asp156Ala)	NC_000013.10:g.32900279A>C	(Likely) benign	3 labs	93040c1e24
1:161830017 ATF6 A>G	1	161830017	161830017	A	G	ATF6	c.1554A>G	NM_007348.4	NP_031374.2:p.(Ser518=)	NC_000001.10:g.161830017A>G	(Likely) benign	2 labs	93049c97d0
8:11612698 GATA4 C>A	8	11612698	11612698	C	A	GATA4	c.1000+56C>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11612698C>A	(Likely) benign	3 labs	9310a098da
5:127712555 FBN2 G>A	5	127712555	127712555	G	A	FBN2	c.1850-9C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127712555G>A	(Likely) benign	4 labs	932a31decc
13:32905126 BRCA2 CAG>C	13	32905126	32905129	CAG	C	BRCA2	c.754_755del	NM_000059.4	NP_000050.3:p.(Asp252GlnfsTer2)	NC_000013.10:g.32905128_32905129del	(Likely) pathogenic	3 labs	934136bcdf
16:28495340 CLN3 C>T	16	28495340	28495340	C	T	CLN3	c.777G>A	NM_001042432.2	NP_001035897.1:p.(Pro259=)	NC_000016.9:g.28495340C>T	(Likely) benign	3 labs	9343a49761
4:55575669 KIT G>A	4	55575669	55575669	G	A	KIT	c.1195G>A	NM_000222.3	NP_000213.1:p.(Val399Ile)	NC_000004.11:g.55575669G>A	(Likely) benign	3 labs	934b624ef5
9:116152940 ALAD G>A	9	116152940	116152940	G	A	ALAD	c.414C>T	NM_000031.6	NP_000022.3:p.(Asn138=)	NC_000009.11:g.116152940G>A	(Likely) benign	2 labs	93523322f5
22:32880006 FBXO7 A>G	22	32880006	32880006	A	G	FBXO7	c.540A>G	NM_012179.4	NP_036311.3:p.(Pro180=)	NC_000022.10:g.32880006A>G	(Likely) benign	2 labs	9352ee34bf
5:76627248 PDE8B G>A	5	76627248	76627248	G	A	PDE8B	c.735G>A	NM_001349749.3	NP_001336678.1:p.(Ala245=)	NC_000005.9:g.76627248G>A	(Likely) benign	2 labs	9358d70ac9
11:118343378 KMT2A G>A	11	118343378	118343378	G	A	KMT2A	c.1504G>A	NM_001197104.2	NP_001184033.1:p.(Glu502Lys)	NC_000011.9:g.118343378G>A	(Likely) benign	3 labs	935b4f30f3
8:17919816 ASAH1 T>A	8	17919816	17919816	T	A	ASAH1	c.620A>T	NM_177924.5	NP_808592.2:p.(Tyr207Phe)	NC_000008.10:g.17919816T>A	VUS	4 labs	937f618bb7
21:44483202 CBS G>A	21	44483202	44483202	G	A	CBS	c.829-14C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44483202G>A	(Likely) benign	2 labs	93770cabbc
2:179433937 TTN C>T	2	179433937	179433937	C	T	TTN	c.76922G>A	NM_001267550.2	NP_001254479.2:p.(Arg25641His)	NC_000002.11:g.179433937C>T	(Likely) benign	2 labs	937ce1ac6e
1:12069692 MFN2 G>A	1	12069692	12069692	G	A	MFN2	c.2113G>A	NM_014874.4	NP_055689.1:p.(Val705Ile)	NC_000001.10:g.12069692G>A	(Likely) benign	3 labs	938559f5f3
6:99924048 USP45 G>A	6	99924048	99924048	G	A	USP45	c.904C>T	NM_001346021.3	NP_001332950.1:p.(Leu302=)	NC_000006.11:g.99924048G>A	(Likely) benign	2 labs	9388a3b6c2
4:146567161 MMAA C>T	4	146567161	146567161	C	T	MMAA	c.586C>T	NM_172250.3	NP_758454.1:p.(Arg196Ter)	NC_000004.11:g.146567161C>T	(Likely) pathogenic	2 labs	938ce270d2
1:237872219 RYR2 G>A	1	237872219	237872219	G	A	RYR2	c.9963G>A	NM_001035.3	NP_001026.2:p.(Pro3321=)	NC_000001.10:g.237872219G>A	(Likely) benign	3 labs	9395ac406f
3:58084493 FLNB C>T	3	58084493	58084493	C	T	FLNB	c.1203C>T	NM_001164317.2	NP_001157789.1:p.(Thr401=)	NC_000003.11:g.58084493C>T	(Likely) benign	2 labs	939ab61596
4:3122989 HTT A>C	4	3122989	3122989	A	C	HTT	c.1109A>C	NM_002111.8	NP_002102.4:p.(Gln370Pro)	NC_000004.11:g.3122989A>C	VUS	2 labs	93abb757cc
1:215847979 USH2A G>A	1	215847979	215847979	G	A	USH2A	c.13274C>T	NM_206933.4	NP_996816.3:p.(Thr4425Met)	NC_000001.10:g.215847979G>A	(Likely) pathogenic	4 labs	93cb05b1c8
22:39621819 PDGFB G>A	22	39621819	39621819	G	A	PDGFB	c.635C>T	NM_002608.4	NP_002599.1:p.(Thr212Met)	NC_000022.10:g.39621819G>A	(Likely) benign	2 labs	93c5e16bef
10:17032483 CUBN G>A	10	17032483	17032483	G	A	CUBN	c.4200C>T	NM_001081.4	NP_001072.2:p.(Gly1400=)	NC_000010.10:g.17032483G>A	(Likely) benign	3 labs	93dad3e488
16:15870032 MYH11 A>G	16	15870032	15870032	A	G	MYH11	c.813T>C	NM_001040113.2	NP_001035202.1:p.(Tyr271=)	NC_000016.9:g.15870032A>G	(Likely) benign	4 labs	93dc39f03b
1:156126368 SEMA4A G>A	1	156126368	156126368	G	A	SEMA4A	c.-225+3G>A	NM_001370571.1	NP_001357500.1:p.?	NC_000001.10:g.156126368G>A	(Likely) benign	2 labs	93e0a7523f
9:137709683 COL5A1 G>A	9	137709683	137709683	G	A	COL5A1	c.4230+6G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709683G>A	(Likely) benign	2 labs	93e13e1106
X:2876398 ARSL G>A	X	2876398	2876398	G	A	ARSL	c.177C>T	NM_001282628.2	NP_001269557.1:p.(Ser59=)	NC_000023.10:g.2876398G>A	(Likely) benign	3 labs	93f46c7137
6:32017881 TNXB G>A	6	32017881	32017881	G	A	TNXB	c.9327C>T	NM_019105.8	NP_061978.6:p.(Asp3109=)	NC_000006.11:g.32017881G>A	(Likely) benign	2 labs	93f9c627be
15:40512901 BUB1B A>C	15	40512901	40512901	A	C	BUB1B	c.3094A>C	NM_001211.6	NP_001202.5:p.(Asn1032His)	NC_000015.9:g.40512901A>C	(Likely) benign	3 labs	93fb6bad82
13:35517125 NBEA C>T	13	35517125	35517125	C	T	NBEA	c.168C>T	NM_015678.5	NP_056493.3:p.(Leu56=)	NC_000013.10:g.35517125C>T	(Likely) benign	2 labs	9400a54831
17:41242960 BRCA1 C>T	17	41242960	41242960	C	T	BRCA1	c.4185+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242960C>T	(Likely) pathogenic	3 labs	940704093a
11:6652976 DCHS1 C>T	11	6652976	6652976	C	T	DCHS1	c.3546G>A	NM_003737.4	NP_003728.1:p.(Gln1182=)	NC_000011.9:g.6652976C>T	(Likely) benign	3 labs	94129de9f1
3:10183714 VHL C>G	3	10183714	10183714	C	G	VHL	c.183C>G	NM_000551.4	NP_000542.1:p.(Pro61=)	NC_000003.11:g.10183714C>G	(Likely) benign	4 labs	941aa0bf7a
2:179552895 TTN C>T	2	179552895	179552895	C	T	TTN	c.32254G>A	NM_001267550.2	NP_001254479.2:p.(Val10752Ile)	NC_000002.11:g.179552895C>T	(Likely) benign	4 labs	941d13f410
7:143029583 CLCN1 T>G	7	143029583	143029583	T	G	CLCN1	c.1238T>G	NM_000083.3	NP_000074.3:p.(Phe413Cys)	NC_000007.13:g.143029583T>G	(Likely) pathogenic	2 labs	9429d95659
11:118015832 SCN4B G>A	11	118015832	118015832	G	A	SCN4B	c.174C>T	NM_174934.4	NP_777594.1:p.(Cys58=)	NC_000011.9:g.118015832G>A	(Likely) benign	2 labs	942ac445b9
9:79933486 VPS13A G>T	9	79933486	79933486	G	T	VPS13A	c.5292G>T	NM_033305.3	NP_150648.2:p.(Leu1764=)	NC_000009.11:g.79933486G>T	(Likely) benign	2 labs	9431fef6b1
2:219677760 CYP27A1 C>T	2	219677760	219677760	C	T	CYP27A1	c.958C>T	NM_000784.4	NP_000775.1:p.(Leu320Phe)	NC_000002.11:g.219677760C>T	VUS	2 labs	9436782d61
2:179495608 TTN G>A	2	179495608	179495608	G	A	TTN	c.44077C>T	NM_001267550.2	NP_001254479.2:p.(Arg14693Cys)	NC_000002.11:g.179495608G>A	(Likely) benign	2 labs	94451db9ff
2:215595159 BARD1 T>C	2	215595159	215595159	T	C	BARD1	c.1977A>G	NM_000465.4	NP_000456.2:p.(Arg659=)	NC_000002.11:g.215595159T>C	(Likely) benign	6 labs	944c651781
6:32029369 TNXB C>T	6	32029369	32029369	C	T	TNXB	c.7297G>A	NM_019105.8	NP_061978.6:p.(Val2433Ile)	NC_000006.11:g.32029369C>T	(Likely) benign	2 labs	945c0e3618
16:23634411 PALB2 C>T	16	23634411	23634411	C	T	PALB2	c.2875G>A	NM_024675.4	NP_078951.2:p.(Val959Ile)	NC_000016.9:g.23634411C>T	(Likely) benign	3 labs	9469818ab4
2:179595893 TTN A>G	2	179595893	179595893	A	G	TTN	c.17499T>C	NM_001267550.2	NP_001254479.2:p.(Asp5833=)	NC_000002.11:g.179595893A>G	(Likely) benign	2 labs	9469a2e9ca
5:80109432 MSH3 C>T	5	80109432	80109432	C	T	MSH3	c.2685C>T	NM_002439.5	NP_002430.3:p.(Thr895=)	NC_000005.9:g.80109432C>T	(Likely) benign	2 labs	948ea5e0ec
19:1440068 RPS15 G>C	19	1440068	1440068	G	C	RPS15	c.161G>C	NM_001308226.2	NP_001295155.1:p.(Arg54Pro)	NC_000019.9:g.1440068G>C	(Likely) benign	2 labs	9493ee5156
6:32012771 TNXB G>A	6	32012771	32012771	G	A	TNXB	c.10921+12C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012771G>A	(Likely) benign	2 labs	9493f141f8
15:73615422 HCN4 C>T	15	73615422	73615422	C	T	HCN4	c.3012G>A	NM_005477.3	NP_005468.1:p.(Pro1004=)	NC_000015.9:g.73615422C>T	(Likely) benign	2 labs	94a1e0c30a
X:73815708 RLIM A>G	X	73815708	73815708	A	G	RLIM	c.105T>C	NM_183353.3	NP_899196.1:p.(Phe35=)	NC_000023.10:g.73815708A>G	(Likely) benign	2 labs	94a2509537
1:235967852 LYST G>A	1	235967852	235967852	G	A	LYST	c.3507C>T	NM_001301365.1	NP_001288294.1:p.(Leu1169=)	NC_000001.10:g.235967852G>A	(Likely) benign	3 labs	94a646c2a1
2:74057995 STAMBP T>C	2	74057995	74057995	T	C	STAMBP	c.12T>C	NM_213622.4	NP_998787.1:p.(His4=)	NC_000002.11:g.74057995T>C	(Likely) benign	2 labs	94abe503e2
16:81410945 GAN A>G	16	81410945	81410945	A	G	GAN	c.1612+12A>G	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81410945A>G	(Likely) benign	2 labs	94acc6416d
4:39206811 WDR19 T>A	4	39206811	39206811	T	A	WDR19	c.641T>A	NM_025132.4	NP_079408.3:p.(Leu214Ter)	NC_000004.11:g.39206811T>A	(Likely) pathogenic	2 labs	94afa24900
12:32977097 PKP2 C>G	12	32977097	32977097	C	G	PKP2	c.1689-1G>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32977097C>G	(Likely) pathogenic	2 labs	94c1d49896
1:68904660 RPE65 A>C	1	68904660	68904660	A	C	RPE65	c.963T>G	NM_000329.3	NP_000320.1:p.(Asn321Lys)	NC_000001.10:g.68904660A>C	(Likely) benign	3 labs	94d5609e36
13:110833751 COL4A1 CA>C	13	110833751	110833763	CA	C	COL4A1	c.2096-16del	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110833763del	(Likely) benign	3 labs	94d5690d97
10:112541506 RBM20 G>A	10	112541506	112541506	G	A	RBM20	c.1139G>A	NM_001134363.3	NP_001127835.2:p.(Arg380Gln)	NC_000010.10:g.112541506G>A	VUS	2 labs	94da0273f9
2:58387258 FANCL A>G	2	58387258	58387258	A	G	FANCL	c.1092T>C	NM_001114636.1	NP_001108108.1:p.(Cys364=)	NC_000002.11:g.58387258A>G	(Likely) benign	2 labs	94e54af64c
13:32944667 BRCA2 A>C	13	32944667	32944667	A	C	BRCA2	c.8460A>C	NM_000059.4	NP_000050.3:p.(Val2820=)	NC_000013.10:g.32944667A>C	(Likely) benign	6 labs	94f1e7b5a3
16:2138269 TSC2 T>C	16	2138269	2138269	T	C	TSC2				NC_000016.9:g.2138269T>C	(Likely) benign	3 labs	94fbe928b6
22:41076970 MCHR1 G>A	22	41076970	41076970	G	A	MCHR1	c.100G>A	NM_005297.4	NP_005288.4:p.(Gly34Arg)	NC_000022.10:g.41076970G>A	(Likely) benign	2 labs	9501539b71
3:53845391 CACNA1D G>A	3	53845391	53845391	G	A	CACNA1D	c.6504G>A	NM_000720.4	NP_000711.1:p.(Glu2168=)	NC_000003.11:g.53845391G>A	(Likely) benign	2 labs	950263bb50
20:54824551 MC3R G>A	20	54824551	54824551	G	A	MC3R	c.652G>A	NM_019888.3	NP_063941.3:p.(Val218Ile)	NC_000020.10:g.54824551G>A	(Likely) benign	2 labs	950ede7b5d
22:20780296 SCARF2 G>A	22	20780296	20780296	G	A	SCARF2	c.1982C>T	NM_153334.7	NP_699165.3:p.(Pro661Leu)	NC_000022.10:g.20780296G>A	(Likely) benign	3 labs	95105ae616
2:44040401 ABCG5 G>C	2	44040401	44040401	G	C	ABCG5	c.1810C>G	NM_022436.3	NP_071881.1:p.(Gln604Glu)	NC_000002.11:g.44040401G>C	(Likely) benign	2 labs	95154c4155
10:112557340 RBM20 C>T	10	112557340	112557340	C	T	RBM20	c.1602C>T	NM_001134363.3	NP_001127835.2:p.(Asp534=)	NC_000010.10:g.112557340C>T	(Likely) benign	3 labs	951566a03b
3:132441095 NPHP3 C>T	3	132441095	132441095	C	T	NPHP3	c.105G>A	NM_153240.5	NP_694972.3:p.(Lys35=)	NC_000003.11:g.132441095C>T	(Likely) benign	3 labs	9516618b59
15:85383709 ALPK3 A>G	15	85383709	85383709	A	G	ALPK3	c.1199A>G	NM_020778.5	NP_065829.4:p.(Gln400Arg)	NC_000015.9:g.85383709A>G	(Likely) benign	3 labs	95216484f4
2:179431439 TTN G>C	2	179431439	179431439	G	C	TTN	c.79420C>G	NM_001267550.2	NP_001254479.2:p.(Pro26474Ala)	NC_000002.11:g.179431439G>C	VUS	3 labs	9530914fde
5:140054257 HARS1 C>T	5	140054257	140054257	C	T	HARS1	c.1458+7G>A	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140054257C>T	(Likely) benign	2 labs	9535b7afb7
4:113353481 ALPK1 A>G	4	113353481	113353481	A	G	ALPK1	c.2778A>G	NM_025144.4	NP_079420.3:p.(Ser926=)	NC_000004.11:g.113353481A>G	(Likely) benign	2 labs	953781e12f
20:10629327 JAG1 G>A	20	10629327	10629327	G	A	JAG1	c.1439C>T	NM_000214.3	NP_000205.1:p.(Ala480Val)	NC_000020.10:g.10629327G>A	(Likely) benign	2 labs	953da34411
6:112450203 LAMA4 G>A	6	112450203	112450203	G	A	LAMA4	c.4208C>T	NM_001105206.3	NP_001098676.2:p.(Pro1403Leu)	NC_000006.11:g.112450203G>A	VUS	2 labs	954a57cf8e
2:73676315 ALMS1 A>G	2	73676315	73676315	A	G	ALMS1	c.2664A>G	NM_015120.4	NP_055935.4:p.(Val888=)	NC_000002.11:g.73676315A>G	(Likely) benign	2 labs	954fbc0ca5
16:15842005 MYH11 G>A	16	15842005	15842005	G	A	MYH11	c.2100C>T	NM_001040113.2	NP_001035202.1:p.(Phe700=)	NC_000016.9:g.15842005G>A	(Likely) benign	2 labs	95503791fa
10:75856943 VCL T>G	10	75856943	75856943	T	G	VCL	c.1744-19T>G	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75856943T>G	(Likely) benign	2 labs	95559de0ef
X:32563301 DMD T>A	X	32563301	32563301	T	A	DMD	c.1774A>T	NM_004010.3	NP_004001.1:p.(Thr592Ser)	NC_000023.10:g.32563301T>A	(Likely) benign	3 labs	9578e0d594
10:68979490 CTNNA3 T>C	10	68979490	68979490	T	C	CTNNA3	c.718A>G	NM_013266.4	NP_037398.2:p.(Thr240Ala)	NC_000010.10:g.68979490T>C	(Likely) benign	2 labs	957b0f1533
2:179511767 TTN GTA>G	2	179511767	179511789	GTA	G	TTN	c.40222+22_40222+23del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511788_179511789del	(Likely) benign	3 labs	958b7b9384
10:18430151 CACNB2 C>G	10	18430151	18430151	C	G	CACNB2	c.36+7C>G	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18430151C>G	(Likely) benign	2 labs	957f22ac59
7:91690652 AKAP9 A>G	7	91690652	91690652	A	G	AKAP9	c.5680A>G	NM_005751.5	NP_005742.4:p.(Lys1894Glu)	NC_000007.13:g.91690652A>G	(Likely) benign	2 labs	9585fd968b
1:237666766 RYR2 G>A	1	237666766	237666766	G	A	RYR2	c.2574G>A	NM_001035.3	NP_001026.2:p.(Thr858=)	NC_000001.10:g.237666766G>A	(Likely) benign	3 labs	958637b45a
12:133219592 POLE C>A	12	133219592	133219592	C	A	POLE	c.4552-10G>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133219592C>A	(Likely) benign	3 labs	9587fb8b29
13:32911119 BRCA2 A>G	13	32911119	32911119	A	G	BRCA2	c.2627A>G	NM_000059.4	NP_000050.3:p.(Asn876Ser)	NC_000013.10:g.32911119A>G	(Likely) benign	2 labs	9589886493
17:41256165 BRCA1 G>A	17	41256165	41256165	G	A	BRCA1	c.415C>T	NM_007294.4	NP_009225.1:p.(Gln139Ter)	NC_000017.10:g.41256165G>A	(Likely) pathogenic	2 labs	958a0fb7e7
14:88450795 GALC G>A	14	88450795	88450795	G	A	GALC	c.525C>T	NM_000153.4	NP_000144.2:p.(Val175=)	NC_000014.8:g.88450795G>A	(Likely) benign	3 labs	959e5dbb84
9:139395311 NOTCH1 G>A	9	139395311	139395311	G	A	NOTCH1	c.5639-12C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139395311G>A	(Likely) benign	2 labs	95a0774602
2:25384356 POMC C>G	2	25384356	25384356	C	G	POMC	c.398G>C	NM_001035256.3	NP_001030333.1:p.(Arg133Pro)	NC_000002.11:g.25384356C>G	VUS	2 labs	95a1356d50
2:99012462 CNGA3 C>T	2	99012462	99012462	C	T	CNGA3	c.829C>T	NM_001298.3	NP_001289.1:p.(Arg277Cys)	NC_000002.11:g.99012462C>T	(Likely) pathogenic	2 labs	95ac02be43
10:126094071 OAT G>A	10	126094071	126094071	G	A	OAT	c.582C>T	NM_001322966.2	NP_001309895.1:p.(Tyr194=)	NC_000010.10:g.126094071G>A	(Likely) benign	2 labs	95b3e3a62d
1:91406272 ZNF644 C>T	1	91406272	91406272	C	T	ZNF644	c.639G>A	NM_201269.3	NP_958357.1:p.(Lys213=)	NC_000001.10:g.91406272C>T	(Likely) benign	2 labs	95b65c7cc9
14:23858853 MYH6 G>A	14	23858853	23858853	G	A	MYH6	c.3808C>T	NM_002471.4	NP_002462.2:p.(Arg1270Cys)	NC_000014.8:g.23858853G>A	VUS	4 labs	95b8c04c37
4:647921 PDE6B G>A	4	647921	647921	G	A	PDE6B	c.905G>A	NM_000283.4	NP_000274.3:p.(Gly302Asp)	NC_000004.11:g.647921G>A	(Likely) benign	2 labs	95bf0e1512
11:36615697 RAG2 C>T	11	36615697	36615697	C	T	RAG2	c.22G>A	NM_000536.4	NP_000527.2:p.(Val8Ile)	NC_000011.9:g.36615697C>T	(Likely) benign	3 labs	95c350f390
2:63815318 WDPCP G>A	2	63815318	63815318	G	A	WDPCP	c.75+13C>T	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63815318G>A	(Likely) benign	2 labs	95c5509546
19:2108740 AP3D1 G>A	19	2108740	2108740	G	A	AP3D1	c.3498C>T	NM_001261826.3	NP_001248755.1:p.(Ala1166=)	NC_000019.9:g.2108740G>A	(Likely) benign	2 labs	95cc64a781
9:6589267 GLDC T>G	9	6589267	6589267	T	G	GLDC	c.1508A>C	NM_000170.3	NP_000161.2:p.(Glu503Ala)	NC_000009.11:g.6589267T>G	(Likely) benign	3 labs	95dca23e73
10:73558944 CDH23 C>T	10	73558944	73558944	C	T	CDH23	c.7131C>T	NM_022124.6	NP_071407.4:p.(Asn2377=)	NC_000010.10:g.73558944C>T	(Likely) benign	2 labs	95eaa75c05
10:97976495 BLNK C>G	10	97976495	97976495	C	G	BLNK	c.526-5G>C	NM_013314.4	NP_037446.1:p.?	NC_000010.10:g.97976495C>G	(Likely) benign	3 labs	95f5933d62
6:152469331 SYNE1 C>T	6	152469331	152469331	C	T	SYNE1	c.24825G>A	NM_182961.4	NP_892006.3:p.(Pro8275=)	NC_000006.11:g.152469331C>T	(Likely) benign	4 labs	95f718c075
8:145737285 RECQL4 T>C	8	145737285	145737285	T	C	RECQL4	c.3393+9A>G	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737285T>C	(Likely) benign	2 labs	95f822e94d
19:15289759 NOTCH3 G>A	19	15289759	15289759	G	A	NOTCH3	c.3719-7C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15289759G>A	(Likely) benign	3 labs	9600753945
19:15298154 NOTCH3 G>T	19	15298154	15298154	G	T	NOTCH3	c.1607-5C>A	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15298154G>T	(Likely) benign	2 labs	9603f96695
7:73467650 ELN C>CTGTGTGTG	7	73467650	73467689	C	CTGTGTGTG	ELN	c.1096+43_1096+50dup	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467682_73467689dup	(Likely) benign	2 labs	960aa78ac1
10:48389072 RBP3 G>A	10	48389072	48389072	G	A	RBP3	c.1806C>T	NM_002900.3	NP_002891.1:p.(His602=)	NC_000010.10:g.48389072G>A	(Likely) benign	2 labs	9621243b6a
2:179404967 TTN T>A	2	179404967	179404967	T	A	TTN	c.97926A>T	NM_001267550.2	NP_001254479.2:p.(Val32642=)	NC_000002.11:g.179404967T>A	(Likely) benign	2 labs	9629a0d297
X:53231138 KDM5C C>T	X	53231138	53231138	C	T	KDM5C	c.1764G>A	NM_004187.5	NP_004178.2:p.(Gln588=)	NC_000023.10:g.53231138C>T	(Likely) benign	3 labs	9633c7034b
1:236908003 ACTN2 G>A	1	236908003	236908003	G	A	ACTN2	c.709G>A	NM_001278344.2	NP_001265273.1:p.(Glu237Lys)	NC_000001.10:g.236908003G>A	VUS	2 labs	9638709b8b
10:75871827 VCL C>T	10	75871827	75871827	C	T	VCL	c.2906C>T	NM_014000.3	NP_054706.1:p.(Ala969Val)	NC_000010.10:g.75871827C>T	VUS	2 labs	963b4e97fb
7:128034396 IMPDH1 C>G	7	128034396	128034396	C	G	IMPDH1	c.1714G>C	NM_000883.4	NP_000874.2:p.(Glu572Gln)	NC_000007.13:g.128034396C>G	(Likely) benign	3 labs	963fce90bd
14:23868166 MYH6 G>A	14	23868166	23868166	G	A	MYH6	c.1662C>T	NM_002471.4	NP_002462.2:p.(Tyr554=)	NC_000014.8:g.23868166G>A	(Likely) benign	2 labs	96592c2b56
1:877978 SAMD11 G>A	1	877978	877978	G	A	SAMD11	c.1596G>A	NM_001385640.1	NP_001372569.1:p.(Leu532=)	NC_000001.10:g.877978G>A	(Likely) benign	2 labs	965f669350
2:179583922 TTN G>A	2	179583922	179583922	G	A	TTN	c.24195C>T	NM_001267550.2	NP_001254479.2:p.(Ser8065=)	NC_000002.11:g.179583922G>A	(Likely) benign	5 labs	966b3cd7a2
15:93518140 CHD2 G>A	15	93518140	93518140	G	A	CHD2	c.2537G>A	NM_001271.4	NP_001262.3:p.(Arg846Gln)	NC_000015.9:g.93518140G>A	(Likely) pathogenic	2 labs	9672ad9141
10:88681458 BMPR1A A>G	10	88681458	88681458	A	G	BMPR1A	c.1342+6A>G	NM_004329.3	NP_004320.2:p.?	NC_000010.10:g.88681458A>G	(Likely) benign	3 labs	9687885419
5:179260613 SQSTM1 A>G	5	179260613	179260613	A	G	SQSTM1	c.996A>G	NM_003900.5	NP_003891.1:p.(Ser332=)	NC_000005.9:g.179260613A>G	(Likely) benign	2 labs	9689eb8abf
5:148407708 SH3TC2 A>C	5	148407708	148407708	A	C	SH3TC2	c.1587T>G	NM_024577.4	NP_078853.2:p.(Arg529=)	NC_000005.9:g.148407708A>C	(Likely) benign	4 labs	969d136210
1:235866027 LYST T>C	1	235866027	235866027	T	C	LYST	c.10374+20A>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235866027T>C	(Likely) benign	2 labs	9693eff852
14:23858272 MYH6 G>A	14	23858272	23858272	G	A	MYH6	c.3979-8C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858272G>A	(Likely) benign	3 labs	96a0a0d30d
10:100202971 HPS1 C>G	10	100202971	100202971	C	G	HPS1	c.27G>C	NM_000195.5	NP_000186.2:p.(Glu9Asp)	NC_000010.10:g.100202971C>G	(Likely) benign	2 labs	96a94fbadf
17:7578420 TP53 C>T	17	7578420	7578420	C	T	TP53	c.510G>A	NM_000546.6	NP_000537.3:p.(Thr170=)	NC_000017.10:g.7578420C>T	(Likely) benign	2 labs	96aaa46ac8
10:90701579 ACTA2 C>T	10	90701579	90701579	C	T	ACTA2	c.417G>A	NM_001141945.2	NP_001135417.1:p.(Gln139=)	NC_000010.10:g.90701579C>T	(Likely) benign	2 labs	96ae3a5bd4
10:27328937 ANKRD26 C>G	10	27328937	27328937	C	G	ANKRD26	c.2332G>C	NM_014915.3	NP_055730.2:p.(Glu778Gln)	NC_000010.10:g.27328937C>G	(Likely) benign	4 labs	96bc988c31
7:92148336 PEX1 G>C	7	92148336	92148336	G	C	PEX1	c.330C>G	NM_000466.3	NP_000457.1:p.(Pro110=)	NC_000007.13:g.92148336G>C	(Likely) benign	2 labs	96c81cb070
5:149459891 CSF1R G>A	5	149459891	149459891	G	A	CSF1R	c.316C>T	NM_005211.4	NP_005202.2:p.(Arg106Trp)	NC_000005.9:g.149459891G>A	(Likely) benign	2 labs	96d84fd6c8
12:85674229 ALX1 C>T	12	85674229	85674229	C	T	ALX1	c.190C>T	NM_006982.3	NP_008913.2:p.(Arg64Cys)	NC_000012.11:g.85674229C>T	(Likely) benign	2 labs	96df32c5ef
1:11190646 MTOR G>A	1	11190646	11190646	G	A	MTOR	c.5553C>T	NM_004958.4	NP_004949.1:p.(Ser1851=)	NC_000001.10:g.11190646G>A	(Likely) benign	2 labs	96e16999c2
7:128482655 FLNC C>T	7	128482655	128482655	C	T	FLNC	c.2292C>T	NM_001458.5	NP_001449.3:p.(Pro764=)	NC_000007.13:g.128482655C>T	(Likely) benign	3 labs	96e7197168
2:48030588 MSH6 C>T	2	48030588	48030588	C	T	MSH6	c.3202C>T	NM_000179.3	NP_000170.1:p.(Arg1068Ter)	NC_000002.11:g.48030588C>T	(Likely) pathogenic	6 labs	96e9db0ce9
2:179406192 TTN G>A	2	179406192	179406192	G	A	TTN	c.97612C>T	NM_001267550.2	NP_001254479.2:p.(Arg32538Cys)	NC_000002.11:g.179406192G>A	VUS	2 labs	96f9815618
19:11323999 DOCK6 C>T	19	11323999	11323999	C	T	DOCK6	c.4449G>A	NM_001367830.1	NP_001354759.1:p.(Pro1483=)	NC_000019.9:g.11323999C>T	(Likely) benign	2 labs	97040bffa9
15:23060820 NIPA1 C>T	15	23060820	23060820	C	T	NIPA1	c.312G>A	NM_144599.5	NP_653200.2:p.(Pro104=)	NC_000015.9:g.23060820C>T	(Likely) benign	3 labs	971be73bd2
8:38285460 FGFR1 G>A	8	38285460	38285460	G	A	FGFR1	c.600C>T	NM_023110.3	NP_075598.2:p.(Asp200=)	NC_000008.10:g.38285460G>A	(Likely) benign	3 labs	971e700a9e
1:78392121 NEXN T>C	1	78392121	78392121	T	C	NEXN	c.512T>C	NM_144573.4	NP_653174.3:p.(Ile171Thr)	NC_000001.10:g.78392121T>C	(Likely) benign	3 labs	97262c6cdf
6:75848630 COL12A1 C>G	6	75848630	75848630	C	G	COL12A1	c.5005G>C	NM_004370.6	NP_004361.3:p.(Glu1669Gln)	NC_000006.11:g.75848630C>G	(Likely) benign	2 labs	9733abc554
15:48722907 FBN1 G>A	15	48722907	48722907	G	A	FBN1	c.6832C>T	NM_000138.5	NP_000129.3:p.(Pro2278Ser)	NC_000015.9:g.48722907G>A	(Likely) benign	3 labs	97379226d6
10:32320002 KIF5B G>A	10	32320002	32320002	G	A	KIF5B	c.1580C>T	NM_004521.3	NP_004512.1:p.(Ser527Leu)	NC_000010.10:g.32320002G>A	(Likely) benign	2 labs	973d812199
12:25362838 KRAS T>A	12	25362838	25362838	T	A	KRAS	c.458A>T	NM_004985.5	NP_004976.2:p.(Asp153Val)	NC_000012.11:g.25362838T>A	(Likely) pathogenic	2 labs	9742654302
3:10106539 FANCD2 C>G	3	10106539	10106539	C	G	FANCD2	c.2148C>G	NM_033084.6	NP_149075.2:p.(Thr716=)	NC_000003.11:g.10106539C>G	(Likely) benign	2 labs	97450fd9ca
12:21971126 ABCC9 C>T	12	21971126	21971126	C	T	ABCC9	c.3729G>A	NM_020297.4	NP_064693.2:p.(Ser1243=)	NC_000012.11:g.21971126C>T	(Likely) benign	2 labs	9745f33c33
X:21896786 MBTPS2 C>T	X	21896786	21896786	C	T	MBTPS2	c.1237C>T	NM_015884.4	NP_056968.1:p.(His413Tyr)	NC_000023.10:g.21896786C>T	(Likely) benign	3 labs	97477c24d8
2:128412453 LIMS2 G>A	2	128412453	128412453	G	A	LIMS2	c.174C>T	NM_001161404.2	NP_001154876.1:p.(Tyr58=)	NC_000002.11:g.128412453G>A	(Likely) benign	2 labs	975eea0825
4:170477125 NEK1 G>A	4	170477125	170477125	G	A	NEK1	c.1388C>T	NM_001199397.3	NP_001186326.1:p.(Ala463Val)	NC_000004.11:g.170477125G>A	(Likely) benign	4 labs	9762157cd1
17:10544461 MYH3 G>A	17	10544461	10544461	G	A	MYH3	c.2106C>T	NM_002470.4	NP_002461.2:p.(Gly702=)	NC_000017.10:g.10544461G>A	(Likely) benign	2 labs	977b7dcaba
4:114280169 ANK2 G>A	4	114280169	114280169	G	A	ANK2	c.10395G>A	NM_001148.6	NP_001139.3:p.(Glu3465=)	NC_000004.11:g.114280169G>A	(Likely) benign	3 labs	978283570e
6:112469480 LAMA4 C>T	6	112469480	112469480	C	T	LAMA4	c.2232G>A	NM_001105206.3	NP_001098676.2:p.(Thr744=)	NC_000006.11:g.112469480C>T	(Likely) benign	4 labs	97854f16db
10:13325801 PHYH G>A	10	13325801	13325801	G	A	PHYH	c.417C>T	NM_001037537.2	NP_001032626.1:p.(Tyr139=)	NC_000010.10:g.13325801G>A	(Likely) benign	2 labs	9786977717
15:73615424 HCN4 G>A	15	73615424	73615424	G	A	HCN4	c.3010C>T	NM_005477.3	NP_005468.1:p.(Pro1004Ser)	NC_000015.9:g.73615424G>A	(Likely) benign	2 labs	978b692aa7
2:219677770 CYP27A1 G>A	2	219677770	219677770	G	A	CYP27A1	c.968G>A	NM_000784.4	NP_000775.1:p.(Arg323Gln)	NC_000002.11:g.219677770G>A	(Likely) benign	2 labs	97902539a3
5:38482057 LIFR C>T	5	38482057	38482057	C	T	LIFR	c.2934G>A	NM_001127671.2	NP_001121143.1:p.(Gln978=)	NC_000005.9:g.38482057C>T	(Likely) benign	2 labs	97993abbe4
2:179617861 TTN C>A	2	179617861	179617861	C	A	TTN	c.10350G>T	NM_133378.4	NP_596869.4:p.(Met3450Ile)	NC_000002.11:g.179617861C>A	VUS	2 labs	97a2ef3438
1:874734 SAMD11 C>T	1	874734	874734	C	T	SAMD11	c.600C>T	NM_152486.4	NP_689699.3:p.(Ser200=)	NC_000001.10:g.874734C>T	(Likely) benign	2 labs	97a6f0013e
X:148579705 IDS G>A	X	148579705	148579705	G	A	IDS	c.641C>T	NM_000202.8	NP_000193.1:p.(Thr214Met)	NC_000023.10:g.148579705G>A	(Likely) benign	4 labs	97a9adaf93
15:85400566 ALPK3 C>T	15	85400566	85400566	C	T	ALPK3	c.2597C>T	NM_020778.5	NP_065829.4:p.(Thr866Met)	NC_000015.9:g.85400566C>T	(Likely) benign	2 labs	97c9cfb8c0
8:1842748 ARHGEF10 C>T	8	1842748	1842748	C	T	ARHGEF10	c.1515+10C>T	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1842748C>T	(Likely) benign	2 labs	97d49e8486
8:72211295 EYA1 T>C	8	72211295	72211295	T	C	EYA1	c.813A>G	NM_001370335.1	NP_001357264.1:p.(Thr271=)	NC_000008.10:g.72211295T>C	(Likely) benign	2 labs	97d80ad545
11:111782389 CRYAB G>A	11	111782389	111782389	G	A	CRYAB	c.60C>T	NM_001885.3	NP_001876.1:p.(Pro20=)	NC_000011.9:g.111782389G>A	(Likely) benign	4 labs	97d8dad43a
7:151433073 PRKAG2 G>A	7	151433073	151433073	G	A	PRKAG2	c.7C>T	NM_001363698.2	NP_001350627.1:p.(Arg3Cys)	NC_000007.13:g.151433073G>A	VUS	2 labs	97e310f6d3
9:101904822 TGFBR1 T>C	9	101904822	101904822	T	C	TGFBR1	c.810T>C	NM_004612.4	NP_004603.1:p.(Asn270=)	NC_000009.11:g.101904822T>C	(Likely) benign	2 labs	97e3e32c42
1:23189648 EPHB2 C>T	1	23189648	23189648	C	T	EPHB2	c.930C>T	NM_017449.5	NP_059145.2:p.(Tyr310=)	NC_000001.10:g.23189648C>T	(Likely) benign	2 labs	97e8abb44c
7:128481295 FLNC C>T	7	128481295	128481295	C	T	FLNC	c.1885C>T	NM_001458.5	NP_001449.3:p.(Arg629Trp)	NC_000007.13:g.128481295C>T	VUS	4 labs	97f0bd3676
7:138434066 ATP6V0A4 GA>G	7	138434066	138434080	GA	G	ATP6V0A4	c.1030-5del	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138434080del	(Likely) benign	4 labs	97f23dc316
9:133884747 LAMC3 A>G	9	133884747	133884747	A	G	LAMC3	c.146A>G	NM_006059.4	NP_006050.3:p.(Gln49Arg)	NC_000009.11:g.133884747A>G	(Likely) benign	3 labs	97f271b294
1:237982383 RYR2 C>T	1	237982383	237982383	C	T	RYR2	c.14481C>T	NM_001035.3	NP_001026.2:p.(Ile4827=)	NC_000001.10:g.237982383C>T	(Likely) benign	2 labs	97faf7f536
2:179576855 TTN A>G	2	179576855	179576855	A	G	TTN	c.27702T>C	NM_001267550.2	NP_001254479.2:p.(Ile9234=)	NC_000002.11:g.179576855A>G	(Likely) benign	4 labs	980339b261
6:32052444 TNXB C>T	6	32052444	32052444	C	T	TNXB	c.3191G>A	NM_019105.8	NP_061978.6:p.(Arg1064His)	NC_000006.11:g.32052444C>T	(Likely) benign	2 labs	980503d715
8:133883643 TG A>G	8	133883643	133883643	A	G	TG	c.325A>G	NM_003235.5	NP_003226.4:p.(Ile109Val)	NC_000008.10:g.133883643A>G	(Likely) benign	2 labs	980e5ec284
14:23859652 MYH6 G>A	14	23859652	23859652	G	A	MYH6	c.3346C>T	NM_002471.4	NP_002462.2:p.(Arg1116Cys)	NC_000014.8:g.23859652G>A	VUS	2 labs	9813826fb7
15:31294401 TRPM1 C>T	15	31294401	31294401	C	T	TRPM1	c.4553G>A	NM_001252020.2	NP_001238949.1:p.(Arg1518His)	NC_000015.9:g.31294401C>T	(Likely) benign	2 labs	9816c91420
4:55127448 PDGFRA G>A	4	55127448	55127448	G	A	PDGFRA	c.236G>A	NM_006206.6	NP_006197.1:p.(Gly79Asp)	NC_000004.11:g.55127448G>A	(Likely) benign	2 labs	981dd85b0f
2:179621040 TTN A>G	2	179621040	179621040	A	G	TTN	c.11163T>C	NM_001267550.2	NP_001254479.2:p.(Asn3721=)	NC_000002.11:g.179621040A>G	(Likely) benign	2 labs	981f667102
1:211654523 RD3 A>G	1	211654523	211654523	A	G	RD3	c.235T>C	NM_183059.3	NP_898882.1:p.(Leu79=)	NC_000001.10:g.211654523A>G	(Likely) benign	2 labs	98260e787f
14:102453876 DYNC1H1 G>A	14	102453876	102453876	G	A	DYNC1H1	c.2625G>A	NM_001376.5	NP_001367.2:p.(Ser875=)	NC_000014.8:g.102453876G>A	(Likely) benign	2 labs	9826697f61
X:119576524 LAMP2 GA>G	X	119576524	119576529	GA	G	LAMP2	c.865-8del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119576529del	(Likely) benign	2 labs	983930f3db
20:57428516 GNAS G>A	20	57428516	57428516	G	A	GNAS	c.196G>A	NM_080425.4	NP_536350.2:p.(Glu66Lys)	NC_000020.10:g.57428516G>A	(Likely) benign	3 labs	9831e0c827
5:149505054 PDGFRB C>T	5	149505054	149505054	C	T	PDGFRB	c.1761G>A	NM_002609.4	NP_002600.1:p.(Leu587=)	NC_000005.9:g.149505054C>T	(Likely) benign	2 labs	983845e319
4:72120971 SLC4A4 G>A	4	72120971	72120971	G	A	SLC4A4	c.108G>A	NM_001098484.3	NP_001091954.1:p.(Pro36=)	NC_000004.11:g.72120971G>A	(Likely) benign	2 labs	983a207564
19:45867676 ERCC2 C>A	19	45867676	45867676	C	A	ERCC2	c.718+6G>T	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45867676C>A	(Likely) benign	2 labs	983babfdd8
1:55524116 PCSK9 C>T	1	55524116	55524116	C	T	PCSK9	c.1355-56C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524116C>T	(Likely) benign	2 labs	98431c8a7f
18:28659928 DSC2 C>A	18	28659928	28659928	C	A	DSC2	c.1548G>T	NM_004949.5	NP_004940.1:p.(Gly516=)	NC_000018.9:g.28659928C>A	(Likely) benign	2 labs	9844a25951
2:189864044 COL3A1 C>G	2	189864044	189864044	C	G	COL3A1	c.2056C>G	NM_000090.4	NP_000081.2:p.(Pro686Ala)	NC_000002.11:g.189864044C>G	(Likely) benign	2 labs	9848bb80d1
6:135778793 AHI1 A>G	6	135778793	135778793	A	G	AHI1	c.990T>C	NM_001134831.2	NP_001128303.1:p.(Asp330=)	NC_000006.11:g.135778793A>G	(Likely) benign	2 labs	984ba71d5c
6:66204849 EYS A>AT	6	66204849	66204850	A	AT	EYS	c.454dup	NM_001292009.2	NP_001278938.1:p.(Met152AsnfsTer37)	NC_000006.11:g.66204850dup	(Likely) pathogenic	3 labs	985224b7a1
17:7574035 TP53 T>C	17	7574035	7574035	T	C	TP53	c.994-2A>G	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7574035T>C	(Likely) pathogenic	2 labs	9852417715
1:12017959 PLOD1 A>G	1	12017959	12017959	A	G	PLOD1	c.802A>G	NM_000302.4	NP_000293.2:p.(Thr268Ala)	NC_000001.10:g.12017959A>G	(Likely) benign	2 labs	985467d838
4:100542323 MTTP A>G	4	100542323	100542323	A	G	MTTP	c.2448A>G	NM_000253.4	NP_000244.2:p.(Thr816=)	NC_000004.11:g.100542323A>G	(Likely) benign	2 labs	985c456307
12:110029080 MVK T>C	12	110029080	110029080	T	C	MVK	c.803T>C	NM_000431.4	NP_000422.1:p.(Ile268Thr)	NC_000012.11:g.110029080T>C	(Likely) pathogenic	5 labs	9860a7f8de
14:88454482 GALC T>C	14	88454482	88454482	T	C	GALC	c.328+6A>G	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88454482T>C	(Likely) benign	2 labs	9866033d53
2:179595073 TTN T>G	2	179595073	179595073	T	G	TTN	c.18054A>C	NM_001267550.2	NP_001254479.2:p.(Pro6018=)	NC_000002.11:g.179595073T>G	(Likely) benign	2 labs	98670ab2de
11:64522962 PYGM G>A	11	64522962	64522962	G	A	PYGM	c.729C>T	NM_005609.4	NP_005600.1:p.(Arg243=)	NC_000011.9:g.64522962G>A	(Likely) benign	3 labs	98701cebb0
11:116706851 APOA1 G>C	11	116706851	116706851	G	C	APOA1	c.477C>G	NM_000039.3	NP_000030.1:p.(His159Gln)	NC_000011.9:g.116706851G>C	(Likely) benign	2 labs	987a097963
13:32931953 BRCA2 T>C	13	32931953	32931953	T	C	BRCA2	c.7692T>C	NM_000059.4	NP_000050.3:p.(Thr2564=)	NC_000013.10:g.32931953T>C	(Likely) benign	5 labs	987ae8d940
11:47371569 MYBPC3 G>A	11	47371569	47371569	G	A	MYBPC3	c.501C>T	NM_000256.3	NP_000247.2:p.(Thr167=)	NC_000011.9:g.47371569G>A	(Likely) benign	4 labs	98800ff2a6
9:135203575 SETX C>T	9	135203575	135203575	C	T	SETX	c.3410G>A	NM_015046.7	NP_055861.3:p.(Gly1137Asp)	NC_000009.11:g.135203575C>T	(Likely) benign	2 labs	988041eafa
9:133738171 ABL1 C>T	9	133738171	133738171	C	T	ABL1	c.571C>T	NM_005157.6	NP_005148.2:p.(Arg191Cys)	NC_000009.11:g.133738171C>T	VUS	2 labs	98842658f4
14:23869501 MYH6 G>A	14	23869501	23869501	G	A	MYH6	c.1545C>T	NM_002471.4	NP_002462.2:p.(Gly515=)	NC_000014.8:g.23869501G>A	VUS	2 labs	988b159efb
16:3777766 CREBBP C>G	16	3777766	3777766	C	G	CREBBP	c.7282G>C	NM_004380.3	NP_004371.2:p.(Gly2428Arg)	NC_000016.9:g.3777766C>G	VUS	3 labs	989d26e5b6
3:46902286 MYL3 G>A	3	46902286	46902286	G	A	MYL3	c.187C>T	NM_000258.3	NP_000249.1:p.(Arg63Cys)	NC_000003.11:g.46902286G>A	VUS	4 labs	989fe15983
8:100205126 VPS13B A>G	8	100205126	100205126	A	G	VPS13B	c.2356A>G	NM_017890.5	NP_060360.3:p.(Ile786Val)	NC_000008.10:g.100205126A>G	(Likely) benign	2 labs	98ad88b053
X:53223557 KDM5C G>A	X	53223557	53223557	G	A	KDM5C	c.3802C>T	NM_004187.5	NP_004178.2:p.(Leu1268=)	NC_000023.10:g.53223557G>A	(Likely) benign	2 labs	98b167fa51
20:10620233 JAG1 C>T	20	10620233	10620233	C	T	JAG1	c.3570G>A	NM_000214.3	NP_000205.1:p.(Pro1190=)	NC_000020.10:g.10620233C>T	(Likely) benign	3 labs	98b7a7ced3
17:59924502 BRIP1 T>C	17	59924502	59924502	T	C	BRIP1	c.587A>G	NM_032043.3	NP_114432.2:p.(Asn196Ser)	NC_000017.10:g.59924502T>C	(Likely) benign	3 labs	98bfe3675a
8:10466743 RP1L1 C>T	8	10466743	10466743	C	T	RP1L1	c.4865G>A	NM_178857.6	NP_849188.4:p.(Arg1622Gln)	NC_000008.10:g.10466743C>T	(Likely) benign	2 labs	98c5dd5828
2:219679301 CYP27A1 C>T	2	219679301	219679301	C	T	CYP27A1	c.1297C>T	NM_000784.4	NP_000775.1:p.(Arg433Trp)	NC_000002.11:g.219679301C>T	VUS	2 labs	98daffca3e
5:90087078 ADGRV1 C>A	5	90087078	90087078	C	A	ADGRV1	c.14432C>A	NM_032119.4	NP_115495.3:p.(Pro4811Gln)	NC_000005.9:g.90087078C>A	(Likely) benign	2 labs	98c7423ced
17:56283913 MKS1 GGCATGCCATTGGGACAGCCTCAGGTTTCT>G	17	56283913	56283944	GGCATGCCATTGGGACAGCCTCAGGTTTCT	G	MKS1	c.1408-34_1408-6del	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56283916_56283944del	(Likely) pathogenic	6 labs	98d0253808
1:11850927 MTHFR C>T	1	11850927	11850927	C	T	MTHFR	c.1781G>A	NM_005957.5	NP_005948.3:p.(Arg594Gln)	NC_000001.10:g.11850927C>T	(Likely) benign	2 labs	98d578e557
17:42992449 GFAP G>A	17	42992449	42992449	G	A	GFAP	c.406C>T	NM_002055.5	NP_002046.1:p.(Arg136Trp)	NC_000017.10:g.42992449G>A	VUS	2 labs	98d57b44eb
12:992725 WNK1 A>G	12	992725	992725	A	G	WNK1	c.4434A>G	NM_001184985.2	NP_001171914.1:p.(Ser1478=)	NC_000012.11:g.992725A>G	(Likely) benign	2 labs	98e241727e
3:38592475 SCN5A C>CTCA	3	38592475	38592479	C	CTCA	SCN5A	c.5385_5387dup	NM_001099404.2	NP_001092874.1:p.(Tyr1795_Glu1796insAsp)	NC_000003.11:g.38592477_38592479dup	(Likely) pathogenic	2 labs	98f5e6939e
6:33419613 SYNGAP1 CAG>C	6	33419613	33419615	CAG	C	SYNGAP1	c.3963_3964del	NM_006772.3	NP_006763.2:p.(Ala1322ProfsTer40)	NC_000006.11:g.33419614_33419615del	(Likely) benign	2 labs	98f720d1f8
9:135203322 SETX C>G	9	135203322	135203322	C	G	SETX	c.3663G>C	NM_015046.7	NP_055861.3:p.(Lys1221Asn)	NC_000009.11:g.135203322C>G	(Likely) benign	3 labs	99079e986c
16:68862204 CDH1 C>T	16	68862204	68862204	C	T	CDH1	c.2292C>T	NM_004360.5	NP_004351.1:p.(Asp764=)	NC_000016.9:g.68862204C>T	(Likely) benign	3 labs	99184c0300
14:64443258 SYNE2 CT>C	14	64443258	64443277	CT	C	SYNE2	c.1129-4del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64443277del	(Likely) benign	2 labs	9910aedafe
16:15818842 MYH11 A>G	16	15818842	15818842	A	G	MYH11	c.3887T>C	NM_001040113.2	NP_001035202.1:p.(Val1296Ala)	NC_000016.9:g.15818842A>G	(Likely) benign	4 labs	9932366243
1:46659302 POMGNT1 G>C	1	46659302	46659302	G	C	POMGNT1	c.960C>G	NM_001243766.2	NP_001230695.2:p.(Arg320=)	NC_000001.10:g.46659302G>C	(Likely) benign	2 labs	993629f334
9:139326319 INPP5E C>T	9	139326319	139326319	C	T	INPP5E	c.1503G>A	NM_001318502.2	NP_001305431.1:p.(Pro501=)	NC_000009.11:g.139326319C>T	(Likely) benign	2 labs	9937b9de3f
11:62458275 BSCL2 T>C	11	62458275	62458275	T	C	BSCL2	c.803A>G	NM_001130702.2	NP_001124174.2:p.(Lys268Arg)	NC_000011.9:g.62458275T>C	(Likely) benign	3 labs	99435ab3fa
2:29917700 ALK G>A	2	29917700	29917700	G	A	ALK	c.952+16C>T	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29917700G>A	(Likely) benign	2 labs	9944093238
12:9020600 A2ML1 G>A	12	9020600	9020600	G	A	A2ML1	c.3880G>A	NM_144670.6	NP_653271.3:p.(Val1294Ile)	NC_000012.11:g.9020600G>A	(Likely) benign	2 labs	994479da73
18:28669405 DSC2 A>G	18	28669405	28669405	A	G	DSC2	c.627T>C	NM_004949.5	NP_004940.1:p.(Phe209=)	NC_000018.9:g.28669405A>G	(Likely) benign	2 labs	9944a62229
18:28660323 DSC2 G>A	18	28660323	28660323	G	A	DSC2	c.1264-5C>T	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28660323G>A	(Likely) benign	4 labs	995ba3249e
10:89692800 PTEN C>T	10	89692800	89692800	C	T	PTEN	c.284C>T	NM_000314.8	NP_000305.3:p.(Pro95Leu)	NC_000010.10:g.89692800C>T	(Likely) pathogenic	2 labs	995bbbc234
11:47364237 MYBPC3 CCTT>C	11	47364237	47364243	CCTT	C	MYBPC3	c.1513_1515del	NM_000256.3	NP_000247.2:p.(Lys505del)	NC_000011.9:g.47364241_47364243del	VUS	2 labs	99609a578c
11:47364187 MYBPC3 C>T	11	47364187	47364187	C	T	MYBPC3	c.1566G>A	NM_000256.3	NP_000247.2:p.(Ala522=)	NC_000011.9:g.47364187C>T	(Likely) benign	4 labs	996ecf1f4d
8:11607770 GATA4 G>A	8	11607770	11607770	G	A	GATA4	c.912+25G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11607770G>A	(Likely) benign	3 labs	9977389b75
7:107315373 SLC26A4 C>T	7	107315373	107315373	C	T	SLC26A4	c.601-17C>T	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107315373C>T	(Likely) benign	2 labs	9985553c97
11:47353737 MYBPC3 C>T	11	47353737	47353737	C	T	MYBPC3	c.3700G>A	NM_000256.3	NP_000247.2:p.(Gly1234Arg)	NC_000011.9:g.47353737C>T	VUS	2 labs	9988323bdd
9:139399213 NOTCH1 G>A	9	139399213	139399213	G	A	NOTCH1	c.4930C>T	NM_017617.5	NP_060087.3:p.(Leu1644=)	NC_000009.11:g.139399213G>A	(Likely) benign	4 labs	9990035f49
15:23890278 MAGEL2 G>A	15	23890278	23890278	G	A	MAGEL2	c.2612C>T	NM_019066.5	NP_061939.3:p.(Ala871Val)	NC_000015.9:g.23890278G>A	(Likely) benign	2 labs	9993103be8
3:14212047 XPC G>A	3	14212047	14212047	G	A	XPC	c.303C>T	NM_004628.5	NP_004619.3:p.(Asp101=)	NC_000003.11:g.14212047G>A	(Likely) benign	2 labs	999f67c890
5:112177096 APC G>A	5	112177096	112177096	G	A	APC	c.5805G>A	NM_000038.6	NP_000029.2:p.(Gln1935=)	NC_000005.9:g.112177096G>A	(Likely) benign	3 labs	99acd6a7d2
6:84765171 MRAP2 T>G	6	84765171	84765171	T	G	MRAP2	c.127+7T>G	NM_138409.4	NP_612418.2:p.?	NC_000006.11:g.84765171T>G	(Likely) benign	2 labs	99ad20884d
18:29111129 DSG2 C>T	18	29111129	29111129	C	T	DSG2	c.1194C>T	NM_001943.5	NP_001934.2:p.(Ser398=)	NC_000018.9:g.29111129C>T	(Likely) benign	2 labs	99b7f4ff59
19:5720229 LONP1 C>T	19	5720229	5720229	C	T	LONP1				NC_000019.9:g.5720229C>T	(Likely) benign	2 labs	99b8763de4
16:90001189 TUBB3 G>A	16	90001189	90001189	G	A	TUBB3	c.114G>A	NM_001197181.2	NP_001184110.1:p.(Ala38=)	NC_000016.9:g.90001189G>A	(Likely) benign	2 labs	99bae68c24
10:73565744 CDH23 C>T	10	73565744	73565744	C	T	CDH23	c.8054C>T	NM_022124.6	NP_071407.4:p.(Ala2685Val)	NC_000010.10:g.73565744C>T	VUS	2 labs	99c239e778
12:33049453 PKP2 G>A	12	33049453	33049453	G	A	PKP2	c.213C>T	NM_004572.4	NP_004563.2:p.(Ser71=)	NC_000012.11:g.33049453G>A	(Likely) benign	2 labs	99c93304e6
2:179582725 TTN G>A	2	179582725	179582725	G	A	TTN	c.25008C>T	NM_001267550.2	NP_001254479.2:p.(Cys8336=)	NC_000002.11:g.179582725G>A	(Likely) benign	3 labs	99cccc5437
12:121435441 HNF1A A>G	12	121435441	121435441	A	G	HNF1A	c.1474A>G	NM_001306179.2	NP_001293108.2:p.(Thr492Ala)	NC_000012.11:g.121435441A>G	VUS	2 labs	99cd80c663
4:6303772 WFS1 C>T	4	6303772	6303772	C	T	WFS1	c.2250C>T	NM_006005.3	NP_005996.2:p.(Ala750=)	NC_000004.11:g.6303772C>T	(Likely) benign	4 labs	99dc08b11d
16:49669922 ZNF423 C>T	16	49669922	49669922	C	T	ZNF423	c.2961G>A	NM_001271620.2	NP_001258549.1:p.(Ala987=)	NC_000016.9:g.49669922C>T	(Likely) benign	2 labs	99e9551d9a
19:42489516 ATP1A3 A>C	19	42489516	42489516	A	C	ATP1A3	c.705T>G	NM_001256214.2	NP_001243143.1:p.(Thr235=)	NC_000019.9:g.42489516A>C	(Likely) benign	4 labs	99f3280677
16:3658876 SLX4 G>A	16	3658876	3658876	G	A	SLX4	c.90C>T	NM_032444.4	NP_115820.2:p.(Ser30=)	NC_000016.9:g.3658876G>A	(Likely) benign	2 labs	99fb93681c
3:52437748 BAP1 A>C	3	52437748	52437748	A	C	BAP1	c.1413T>G	NM_004656.4	NP_004647.1:p.(Ala471=)	NC_000003.11:g.52437748A>C	(Likely) benign	2 labs	9a0c1bb747
10:89621904 KLLN CCT>C	10	89621904	89621906	CCT	C	KLLN	c.339_340del	NM_001126049.2	NP_001119521.1:p.(Ala115SerfsTer58)	NC_000010.10:g.89621905_89621906del	VUS	3 labs	9a0d7e682d
4:1803162 FGFR3 G>A	4	1803162	1803162	G	A	FGFR3	c.514G>A	NM_000142.5	NP_000133.1:p.(Val172Ile)	NC_000004.11:g.1803162G>A	(Likely) benign	3 labs	9a2dca12ed
5:82816056 VCAN C>T	5	82816056	82816056	C	T	VCAN	c.1931C>T	NM_004385.5	NP_004376.2:p.(Pro644Leu)	NC_000005.9:g.82816056C>T	VUS	2 labs	9a4abcd00a
1:201331530 TNNT2 G>A	1	201331530	201331530	G	A	TNNT2	c.571-8C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331530G>A	(Likely) benign	3 labs	9a4f4c8479
12:7170286 C1S A>G	12	7170286	7170286	A	G	C1S	c.306A>G	NM_001734.5	NP_001725.1:p.(Pro102=)	NC_000012.11:g.7170286A>G	(Likely) benign	3 labs	9a687c19df
X:38178178 RPGR C>T	X	38178178	38178178	C	T	RPGR	c.373G>A	NM_001034853.2	NP_001030025.1:p.(Glu125Lys)	NC_000023.10:g.38178178C>T	VUS	2 labs	9a7508aa6b
X:153421876 OPN1LW C>A	X	153421876	153421876	C	A	OPN1LW	c.852C>A	NM_020061.6	NP_064445.2:p.(Tyr284Ter)	NC_000023.10:g.153421876C>A	(Likely) pathogenic	2 labs	9a827c73dd
1:215956113 USH2A C>T	1	215956113	215956113	C	T	USH2A	c.10552G>A	NM_206933.4	NP_996816.3:p.(Val3518Ile)	NC_000001.10:g.215956113C>T	(Likely) benign	3 labs	9a8b59c25c
9:139391506 NOTCH1 C>T	9	139391506	139391506	C	T	NOTCH1	c.6685G>A	NM_017617.5	NP_060087.3:p.(Val2229Met)	NC_000009.11:g.139391506C>T	(Likely) benign	3 labs	9a8e74a086
19:50779469 MYH14 C>T	19	50779469	50779469	C	T	MYH14	c.3680+9C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50779469C>T	(Likely) benign	2 labs	9a8e79be75
6:112463507 LAMA4 A>G	6	112463507	112463507	A	G	LAMA4	c.2494-13T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112463507A>G	(Likely) benign	2 labs	9a928607d3
X:148582573 IDS G>GA	X	148582573	148582584	G	GA	IDS	c.419-6dup	NM_000202.8	NP_000193.1:p.?	NC_000023.10:g.148582584dup	(Likely) benign	2 labs	9a952261f3
2:179432048 TTN C>T	2	179432048	179432048	C	T	TTN	c.78811G>A	NM_001267550.2	NP_001254479.2:p.(Val26271Ile)	NC_000002.11:g.179432048C>T	VUS	2 labs	9a968243c7
11:78449568 TENM4 G>C	11	78449568	78449568	G	C	TENM4	c.2804C>G	NM_001098816.3	NP_001092286.2:p.(Pro935Arg)	NC_000011.9:g.78449568G>C	(Likely) benign	3 labs	9a97903eea
15:73621946 HCN4 G>A	15	73621946	73621946	G	A	HCN4	c.1558C>T	NM_005477.3	NP_005468.1:p.(Leu520=)	NC_000015.9:g.73621946G>A	(Likely) benign	2 labs	9a9b0f9ddf
17:79495914 FSCN2 C>T	17	79495914	79495914	C	T	FSCN2	c.357C>T	NM_001077182.3	NP_001070650.1:p.(Ser119=)	NC_000017.10:g.79495914C>T	(Likely) benign	2 labs	9a9b236db1
9:377066 DOCK8 C>T	9	377066	377066	C	T	DOCK8	c.2295C>T	NM_203447.4	NP_982272.2:p.(Ser765=)	NC_000009.11:g.377066C>T	(Likely) benign	2 labs	9a9ee64abc
5:172660508 NKX2-5 CA>C	5	172660508	172660522	CA	C	NKX2-5	c.335-5del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660522del	(Likely) benign	3 labs	9aa41c0223
3:123419240 MYLK G>A	3	123419240	123419240	G	A	MYLK	c.3075C>T	NM_053025.4	NP_444253.3:p.(Pro1025=)	NC_000003.11:g.123419240G>A	(Likely) benign	2 labs	9ab3cd5258
11:62159729 ASRGL1 C>T	11	62159729	62159729	C	T	ASRGL1	c.900C>T	NM_001083926.2	NP_001077395.1:p.(Asp300=)	NC_000011.9:g.62159729C>T	(Likely) benign	2 labs	9ac44d3835
5:127727852 FBN2 C>T	5	127727852	127727852	C	T	FBN2	c.1466-4G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127727852C>T	(Likely) benign	4 labs	9aca5bf56e
9:133961026 LAMC3 G>C	9	133961026	133961026	G	C	LAMC3	c.4146G>C	NM_006059.4	NP_006050.3:p.(Arg1382Ser)	NC_000009.11:g.133961026G>C	(Likely) benign	2 labs	9acd039579
10:55721636 PCDH15 C>T	10	55721636	55721636	C	T	PCDH15	c.2900G>A	NM_001142771.2	NP_001136243.1:p.(Arg967His)	NC_000010.10:g.55721636C>T	(Likely) benign	2 labs	9ace16e26f
2:85769750 MAT2A T>C	2	85769750	85769750	T	C	MAT2A	c.831T>C	NM_005911.6	NP_005902.1:p.(His277=)	NC_000002.11:g.85769750T>C	(Likely) benign	3 labs	9ad1526f4a
6:32009965 TNXB C>T	6	32009965	32009965	C	T	TNXB	c.12302-15G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009965C>T	(Likely) benign	2 labs	9ae2d343a1
6:123673692 TRDN A>G	6	123673692	123673692	A	G	TRDN	c.1361T>C	NM_006073.4	NP_006064.2:p.(Val454Ala)	NC_000006.11:g.123673692A>G	(Likely) benign	2 labs	9ae59dd12b
15:73617478 HCN4 G>A	15	73617478	73617478	G	A	HCN4	c.1796C>T	NM_005477.3	NP_005468.1:p.(Ala599Val)	NC_000015.9:g.73617478G>A	VUS	2 labs	9ae82b9e2b
2:109371509 RANBP2 G>A	2	109371509	109371509	G	A	RANBP2	c.2351G>A	NM_006267.5	NP_006258.3:p.(Arg784Lys)	NC_000002.11:g.109371509G>A	(Likely) benign	3 labs	9ae694ba53
2:179429197 TTN CT>C	2	179429197	179429198	CT	C	TTN	c.81661del	NM_001267550.2	NP_001254479.2:p.(Ser27221AlafsTer6)	NC_000002.11:g.179429198del	(Likely) pathogenic	2 labs	9af429e037
17:39925679 JUP G>A	17	39925679	39925679	G	A	JUP	c.459C>T	NM_002230.4	NP_002221.1:p.(Asp153=)	NC_000017.10:g.39925679G>A	(Likely) benign	3 labs	9b00d93d3e
16:88494280 ZNF469 C>T	16	88494280	88494280	C	T	ZNF469	c.402C>T	NM_001367624.2	NP_001354553.1:p.(Asp134=)	NC_000016.9:g.88494280C>T	(Likely) benign	2 labs	9b02e1c4dd
11:2683246 KCNQ1 C>A	11	2683246	2683246	C	A	KCNQ1	c.1449C>A	NM_000218.3	NP_000209.2:p.(Asn483Lys)	NC_000011.9:g.2683246C>A	VUS	2 labs	9b0774b957
2:179536733 TTN ACTT>A	2	179536733	179536740	ACTT	A	TTN	c.35189_35191del	NM_001267550.2	NP_001254479.2:p.(Glu11730del)	NC_000002.11:g.179536738_179536740del	VUS	4 labs	9b0d1ce78b
20:57429321 GNAS G>A	20	57429321	57429321	G	A	GNAS	c.814G>A	NM_001077490.3	NP_001070958.1:p.(Ala272Thr)	NC_000020.10:g.57429321G>A	(Likely) benign	2 labs	9b0b706b93
11:95825374 MAML2 TTGCTGCTGC>T	11	95825374	95825415	TTGCTGCTGC	T	MAML2	c.1812_1820del	NM_032427.4	NP_115803.1:p.(Gln619_Gln621del)	NC_000011.9:g.95825407_95825415del	(Likely) benign	2 labs	9b13f81f8a
10:67829083 CTNNA3 C>T	10	67829083	67829083	C	T	CTNNA3	c.2142G>A	NM_013266.4	NP_037398.2:p.(Glu714=)	NC_000010.10:g.67829083C>T	(Likely) benign	3 labs	9b15bfcae3
2:179634389 TTN TA>T	2	179634389	179634390	TA	T	TTN	c.8902+16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634390del	(Likely) benign	4 labs	9b1ceb04b2
7:91682236 AKAP9 A>G	7	91682236	91682236	A	G	AKAP9	c.5565A>G	NM_005751.5	NP_005742.4:p.(Glu1855=)	NC_000007.13:g.91682236A>G	(Likely) benign	3 labs	9b1e8966e0
6:32030131 TNXB G>T	6	32030131	32030131	G	T	TNXB	c.6971C>A	NM_019105.8	NP_061978.6:p.(Thr2324Lys)	NC_000006.11:g.32030131G>T	(Likely) benign	2 labs	9b24855488
6:112575027 LAMA4 G>C	6	112575027	112575027	G	C	LAMA4	c.326C>G	NM_001105209.3	NP_001098679.1:p.(Ser109Ter)	NC_000006.11:g.112575027G>C	(Likely) benign	2 labs	9b3f4c0cad
1:78392229 NEXN A>G	1	78392229	78392229	A	G	NEXN	c.620A>G	NM_144573.4	NP_653174.3:p.(Asp207Gly)	NC_000001.10:g.78392229A>G	VUS	3 labs	9b2b2e2d3f
16:89985950 MC1R C>T	16	89985950	89985950	C	T	MC1R	c.284C>T	NM_002386.4	NP_002377.4:p.(Thr95Met)	NC_000016.9:g.89985950C>T	(Likely) benign	3 labs	9b2d9cd3db
7:128484110 FLNC C>T	7	128484110	128484110	C	T	FLNC	c.2982C>T	NM_001458.5	NP_001449.3:p.(Gly994=)	NC_000007.13:g.128484110C>T	(Likely) benign	2 labs	9b353a1678
16:2114422 TSC2 C>T	16	2114422	2114422	C	T	TSC2	c.1593C>T	NM_000548.5	NP_000539.2:p.(Ile531=)	NC_000016.9:g.2114422C>T	(Likely) benign	2 labs	9b39750956
2:179593104 TTN A>G	2	179593104	179593104	A	G	TTN	c.19447T>C	NM_001267550.2	NP_001254479.2:p.(Phe6483Leu)	NC_000002.11:g.179593104A>G	VUS	3 labs	9b4678a782
11:2906192 CDKN1C C>G	11	2906192	2906192	C	G	CDKN1C	c.528G>C	NM_000076.2	NP_000067.1:p.(Ala176=)	NC_000011.9:g.2906192C>G	(Likely) benign	5 labs	9b4dd23ca9
16:88494505 ZNF469 G>T	16	88494505	88494505	G	T	ZNF469	c.627G>T	NM_001367624.2	NP_001354553.1:p.(Gly209=)	NC_000016.9:g.88494505G>T	(Likely) benign	2 labs	9b4ff3df08
2:48026175 MSH6 C>T	2	48026175	48026175	C	T	MSH6	c.1053C>T	NM_000179.3	NP_000170.1:p.(His351=)	NC_000002.11:g.48026175C>T	(Likely) benign	4 labs	9b5bb62247
1:215847937 USH2A G>A	1	215847937	215847937	G	A	USH2A	c.13316C>T	NM_206933.4	NP_996816.3:p.(Thr4439Ile)	NC_000001.10:g.215847937G>A	(Likely) pathogenic	3 labs	9b6508b9e8
16:3634861 SLX4 G>A	16	3634861	3634861	G	A	SLX4	c.4648C>T	NM_032444.4	NP_115820.2:p.(Arg1550Trp)	NC_000016.9:g.3634861G>A	(Likely) benign	3 labs	9b77f3d7ea
11:32414263 WT1 G>A	11	32414263	32414263	G	A	WT1	c.1303C>T	NM_024426.6	NP_077744.4:p.(Arg435Ter)	NC_000011.9:g.32414263G>A	(Likely) pathogenic	2 labs	9b7cbda564
9:12695586 TYRP1 C>T	9	12695586	12695586	C	T	TYRP1	c.457C>T	NM_000550.3	NP_000541.1:p.(Arg153Cys)	NC_000009.11:g.12695586C>T	VUS	4 labs	9b7d42adc1
6:7572302 DSP G>A	6	7572302	7572302	G	A	DSP	c.2130+1G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572302G>A	(Likely) pathogenic	2 labs	9b80aeb002
7:140482908 BRAF T>C	7	140482908	140482908	T	C	BRAF	c.1227A>G	NM_004333.6	NP_004324.2:p.(Ser409=)	NC_000007.13:g.140482908T>C	(Likely) benign	3 labs	9b81836663
7:128490876 FLNC G>A	7	128490876	128490876	G	A	FLNC	c.5418G>A	NM_001458.5	NP_001449.3:p.(Ser1806=)	NC_000007.13:g.128490876G>A	(Likely) benign	4 labs	9b82bd0e04
1:10713997 CASZ1 G>A	1	10713997	10713997	G	A	CASZ1	c.2117C>T	NM_001079843.3	NP_001073312.1:p.(Pro706Leu)	NC_000001.10:g.10713997G>A	(Likely) benign	2 labs	9b84061d54
11:534288 HRAS C>T	11	534288	534288	C	T	HRAS	c.35G>A	NM_176795.5	NP_789765.1:p.(Gly12Asp)	NC_000011.9:g.534288C>T	(Likely) pathogenic	3 labs	9b862cb7a4
1:116926662 ATP1A1 A>G	1	116926662	116926662	A	G	ATP1A1	c.39A>G	NM_001160233.2	NP_001153705.1:p.(Ala13=)	NC_000001.10:g.116926662A>G	(Likely) benign	2 labs	9b990051a3
20:3897559 PANK2 T>TTTCCCC	20	3897559	3897565	T	TTTCCCC	PANK2	c.1413-14_1413-9dup	NM_153638.4	NP_705902.2:p.?	NC_000020.10:g.3897560_3897565dup	(Likely) benign	2 labs	9b8f7037c6
11:19207891 CSRP3 GGGACCTGTT>G	11	19207891	19207903	GGGACCTGTT	G	CSRP3	c.282-5_285del	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19207895_19207903del	VUS	3 labs	9b9d5d24c4
2:179396977 TTN C>T	2	179396977	179396977	C	T	TTN	c.104365G>A	NM_001267550.2	NP_001254479.2:p.(Glu34789Lys)	NC_000002.11:g.179396977C>T	(Likely) benign	2 labs	9baa1016ee
17:41243190 BRCA1 T>G	17	41243190	41243190	T	G	BRCA1	c.4097-141A>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243190T>G	(Likely) benign	3 labs	9bab3e014e
1:6533338 PLEKHG5 G>A	1	6533338	6533338	G	A	PLEKHG5	c.768C>T	NM_198681.4	NP_941374.3:p.(Ser256=)	NC_000001.10:g.6533338G>A	(Likely) benign	2 labs	9bac233f43
X:135292012 FHL1 C>CT	X	135292012	135292021	C	CT	FHL1	c.689-9dup	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292021dup	(Likely) benign	2 labs	9baebb9e22
8:11606510 GATA4 G>A	8	11606510	11606510	G	A	GATA4	c.699G>A	NM_002052.5	NP_002043.2:p.(Thr233=)	NC_000008.10:g.11606510G>A	(Likely) benign	3 labs	9bb6dab8e5
1:241663825 FH G>A	1	241663825	241663825	G	A	FH	c.1302C>T	NM_000143.4	NP_000134.2:p.(Cys434=)	NC_000001.10:g.241663825G>A	(Likely) benign	3 labs	9bb6f8cdf6
22:21348506 LZTR1 C>T	22	21348506	21348506	C	T	LZTR1	c.1563C>T	NM_006767.4	NP_006758.2:p.(Phe521=)	NC_000022.10:g.21348506C>T	(Likely) benign	2 labs	9bbd79587e
2:21238243 APOB A>G	2	21238243	21238243	A	G	APOB	c.3507T>C	NM_000384.3	NP_000375.3:p.(Tyr1169=)	NC_000002.11:g.21238243A>G	(Likely) benign	2 labs	9bc312aa27
4:79461782 FRAS1 TC>T	4	79461782	79461783	TC	T	FRAS1	c.11544del	NM_025074.7	NP_079350.5:p.(Arg3849AspfsTer8)	NC_000004.11:g.79461783del	(Likely) pathogenic	3 labs	9bc3ae2a9c
7:128484281 FLNC G>A	7	128484281	128484281	G	A	FLNC	c.3153G>A	NM_001458.5	NP_001449.3:p.(Pro1051=)	NC_000007.13:g.128484281G>A	(Likely) benign	4 labs	9bc5e48b36
21:44483184 CBS A>ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	21	44483184	44483218	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAG	CBS	c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	NM_000071.3	NP_000062.1:p.(Ile278ThrfsTer16)	NC_000021.8:g.44483217_44483218insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	(Likely) benign	2 labs	9bc608b762
11:108141874 ATM G>A	11	108141874	108141874	G	A	ATM	c.2921+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141874G>A	(Likely) pathogenic	2 labs	9bce8d83e4
17:59870998 BRIP1 T>C	17	59870998	59870998	T	C	BRIP1	c.1433A>G	NM_032043.3	NP_114432.2:p.(His478Arg)	NC_000017.10:g.59870998T>C	(Likely) benign	5 labs	9bd019b86c
19:50338236 MED25 C>T	19	50338236	50338236	C	T	MED25	c.1483-7C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50338236C>T	(Likely) benign	2 labs	9bdaa97019
9:136412296 ADAMTSL2 C>T	9	136412296	136412296	C	T	ADAMTSL2	c.900C>T	NM_001145320.2	NP_001138792.1:p.(Ile300=)	NC_000009.11:g.136412296C>T	(Likely) benign	2 labs	9be194e5bd
1:94476351 ABCA4 C>T	1	94476351	94476351	C	T	ABCA4	c.5714+5G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476351C>T	(Likely) pathogenic	4 labs	9bf064c755
14:23885060 MYH7 G>A	14	23885060	23885060	G	A	MYH7	c.4954-19C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885060G>A	(Likely) benign	2 labs	9bfc01f094
16:56545188 BBS2 A>G	16	56545188	56545188	A	G	BBS2	c.354T>C	NM_031885.5	NP_114091.4:p.(Asp118=)	NC_000016.9:g.56545188A>G	(Likely) benign	3 labs	9c0f1c6081
1:237942082 RYR2 AACTG>A	1	237942082	237942086	AACTG	A	RYR2	c.11880+13_11880+16del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237942083_237942086del	(Likely) benign	2 labs	9c1b94f71f
1:6528159 PLEKHG5 C>G	1	6528159	6528159	C	G	PLEKHG5	c.2737G>C	NM_198681.4	NP_941374.3:p.(Gly913Arg)	NC_000001.10:g.6528159C>G	VUS	2 labs	9c1ddc4cac
1:11854498 MTHFR C>T	1	11854498	11854498	C	T	MTHFR	c.1264G>A	NM_005957.5	NP_005948.3:p.(Gly422Arg)	NC_000001.10:g.11854498C>T	(Likely) benign	2 labs	9c1ec560d9
18:21115684 NPC1 C>T	18	21115684	21115684	C	T	NPC1	c.3246-20G>A	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21115684C>T	(Likely) benign	2 labs	9c286f2cf5
3:38655272 SCN5A C>T	3	38655272	38655272	C	T	SCN5A	c.665G>A	NM_198056.3	NP_932173.1:p.(Arg222Gln)	NC_000003.11:g.38655272C>T	(Likely) pathogenic	2 labs	9c2b55e449
2:179645902 TTN C>T	2	179645902	179645902	C	T	TTN	c.3469G>A	NM_001267550.2	NP_001254479.2:p.(Val1157Ile)	NC_000002.11:g.179645902C>T	VUS	3 labs	9c33501628
10:112541212 RBM20 TTTACGGAC>T	10	112541212	112541220	TTTACGGAC	T	RBM20	c.846_853del	NM_001134363.3	NP_001127835.2:p.(Tyr283GlnfsTer14)	NC_000010.10:g.112541213_112541220del	(Likely) pathogenic	2 labs	9c340a55d3
X:5821872 NLGN4X C>T	X	5821872	5821872	C	T	NLGN4X	c.847G>A	NM_001282145.2	NP_001269074.1:p.(Ala283Thr)	NC_000023.10:g.5821872C>T	VUS	3 labs	9c385b92a0
19:36339285 NPHS1 A>G	19	36339285	36339285	A	G	NPHS1	c.1185T>C	NM_004646.4	NP_004637.1:p.(Gly395=)	NC_000019.9:g.36339285A>G	(Likely) benign	2 labs	9c38e623fa
17:1673263 SERPINF1 G>C	17	1673263	1673263	G	C	SERPINF1	c.202G>C	NM_002615.7	NP_002606.3:p.(Val68Leu)	NC_000017.10:g.1673263G>C	(Likely) benign	2 labs	9c3be299f9
17:41258504 BRCA1 A>G	17	41258504	41258504	A	G	BRCA1	c.181T>C	NM_007294.4	NP_009225.1:p.(Cys61Arg)	NC_000017.10:g.41258504A>G	(Likely) pathogenic	2 labs	9c3ef867f2
10:112557265 RBM20 G>C	10	112557265	112557265	G	C	RBM20	c.1528-1G>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112557265G>C	VUS	4 labs	9c45905c89
2:149247043 MBD5 C>T	2	149247043	149247043	C	T	MBD5	c.3842C>T	NM_001378120.1	NP_001365049.1:p.(Thr1281Ile)	NC_000002.11:g.149247043C>T	(Likely) benign	3 labs	9c45a996e5
15:48787793 FBN1 A>G	15	48787793	48787793	A	G	FBN1	c.2420-8T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48787793A>G	(Likely) benign	3 labs	9c47684a80
2:189868735 COL3A1 G>A	2	189868735	189868735	G	A	COL3A1	c.2689G>A	NM_000090.4	NP_000081.2:p.(Gly897Ser)	NC_000002.11:g.189868735G>A	(Likely) pathogenic	2 labs	9c48adbdd6
1:216363583 USH2A C>T	1	216363583	216363583	C	T	USH2A	c.4378G>A	NM_206933.4	NP_996816.3:p.(Gly1460Arg)	NC_000001.10:g.216363583C>T	VUS	2 labs	9c4a3a0421
10:100190359 HPS1 G>A	10	100190359	100190359	G	A	HPS1	c.737C>T	NM_000195.5	NP_000186.2:p.(Pro246Leu)	NC_000010.10:g.100190359G>A	VUS	2 labs	9c4e3e1a0c
12:102069077 MYBPC1 A>G	12	102069077	102069077	A	G	MYBPC1	c.2817A>G	NM_002465.4	NP_002456.2:p.(Pro939=)	NC_000012.11:g.102069077A>G	(Likely) benign	2 labs	9c525ab320
6:157099981 ARID1B GGGCGGCGGC>G	6	157099981	157100007	GGGCGGCGGC	G	ARID1B	c.1185_1193del	NM_001371656.1	NP_001358585.1:p.(Gly400_Gly402del)	NC_000006.11:g.157099999_157100007del	(Likely) benign	2 labs	9c4cab68b7
10:89690827 PTEN C>T	10	89690827	89690827	C	T	PTEN	c.234C>T	NM_000314.8	NP_000305.3:p.(Thr78=)	NC_000010.10:g.89690827C>T	(Likely) benign	2 labs	9c59778b63
X:133549035 PHF6 T>G	X	133549035	133549035	T	G	PHF6	c.730-11T>G	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133549035T>G	(Likely) benign	2 labs	9c59a3092e
1:156846364 NTRK1 G>A	1	156846364	156846364	G	A	NTRK1	c.1805G>A	NM_002529.4	NP_002520.2:p.(Arg602Gln)	NC_000001.10:g.156846364G>A	(Likely) pathogenic	2 labs	9c5f391998
16:1570312 IFT140 C>T	16	1570312	1570312	C	T	IFT140	c.3693G>A	NM_014714.4	NP_055529.2:p.(Thr1231=)	NC_000016.9:g.1570312C>T	(Likely) benign	4 labs	9c621a0114
9:137688202 COL5A1 C>A	9	137688202	137688202	C	A	COL5A1	c.2800-18C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688202C>A	(Likely) benign	2 labs	9c6794830e
7:157208704 DNAJB6 C>T	7	157208704	157208704	C	T	DNAJB6	c.899-6C>T	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157208704C>T	(Likely) benign	2 labs	9c6e1cbc2d
4:114257132 ANK2 A>G	4	114257132	114257132	A	G	ANK2	c.3510A>G	NM_001148.6	NP_001139.3:p.(Val1170=)	NC_000004.11:g.114257132A>G	(Likely) benign	2 labs	9c775e1e2e
13:32906475 BRCA2 T>C	13	32906475	32906475	T	C	BRCA2	c.860T>C	NM_000059.4	NP_000050.3:p.(Met287Thr)	NC_000013.10:g.32906475T>C	(Likely) benign	2 labs	9c79b6db82
2:216946353 PECR G>C	2	216946353	216946353	G	C	PECR	c.112C>G	NM_018441.6	NP_060911.2:p.(Leu38Val)	NC_000002.11:g.216946353G>C	VUS	2 labs	9c80cb9192
8:10480305 RP1L1 C>T	8	10480305	10480305	C	T	RP1L1	c.407G>A	NM_178857.6	NP_849188.4:p.(Arg136His)	NC_000008.10:g.10480305C>T	(Likely) benign	2 labs	9c8d249e46
15:66782108 MAP2K1 CTATT>C	15	66782108	66782116	CTATT	C	MAP2K1	c.1068+12_1068+15del	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66782113_66782116del	(Likely) benign	2 labs	9c8de8c3ce
11:108100002 ATM C>A	11	108100002	108100002	C	A	ATM	c.283C>A	NM_000051.4	NP_000042.3:p.(Gln95Lys)	NC_000011.9:g.108100002C>A	VUS	2 labs	9c9483ed67
22:21347142 LZTR1 C>T	22	21347142	21347142	C	T	LZTR1	c.1209C>T	NM_006767.4	NP_006758.2:p.(Phe403=)	NC_000022.10:g.21347142C>T	(Likely) benign	3 labs	9c9e01de77
6:53363725 GCLC G>A	6	53363725	53363725	G	A	GCLC	c.1743C>T	NM_001498.4	NP_001489.1:p.(Ile581=)	NC_000006.11:g.53363725G>A	(Likely) benign	3 labs	9cab4f3160
2:73959834 TPRKB C>CA	2	73959834	73959848	C	CA	TPRKB	c.142-423dup	NM_016058.5	NP_057142.1:p.?	NC_000002.11:g.73959848dup	(Likely) benign	3 labs	9cb4ae41a4
X:99551784 PCDH19 G>A	X	99551784	99551784	G	A	PCDH19	c.2938C>T	NM_001184880.2	NP_001171809.1:p.(Arg980Cys)	NC_000023.10:g.99551784G>A	(Likely) benign	2 labs	9cbaf5380c
9:130259561 LRSAM1 C>T	9	130259561	130259561	C	T	LRSAM1	c.1860C>T	NM_138361.5	NP_612370.3:p.(His620=)	NC_000009.11:g.130259561C>T	(Likely) benign	2 labs	9cc5268c4e
8:145742479 RECQL4 C>T	8	145742479	145742479	C	T	RECQL4	c.309G>A	NM_004260.4	NP_004251.4:p.(Pro103=)	NC_000008.10:g.145742479C>T	(Likely) benign	2 labs	9cd7d411ae
4:100503130 MTTP C>G	4	100503130	100503130	C	G	MTTP	c.130C>G	NM_000253.4	NP_000244.2:p.(Leu44Val)	NC_000004.11:g.100503130C>G	(Likely) benign	2 labs	9cec1379e7
2:98996775 CNGA3 A>G	2	98996775	98996775	A	G	CNGA3	c.353A>G	NM_001298.3	NP_001289.1:p.(Gln118Arg)	NC_000002.11:g.98996775A>G	(Likely) benign	2 labs	9cf91715e2
X:10491233 MID1 C>A	X	10491233	10491233	C	A	MID1	c.661-6G>T	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10491233C>A	(Likely) benign	4 labs	9cfac6efa3
13:32906542 BRCA2 A>G	13	32906542	32906542	A	G	BRCA2	c.927A>G	NM_000059.4	NP_000050.3:p.(Ser309=)	NC_000013.10:g.32906542A>G	(Likely) benign	6 labs	9cfe1eddc4
X:77286939 ATP7A C>T	X	77286939	77286939	C	T	ATP7A	c.3153C>T	NM_000052.7	NP_000043.4:p.(His1051=)	NC_000023.10:g.77286939C>T	(Likely) benign	2 labs	9d001a796f
8:100128062 VPS13B CCTTA>C	8	100128062	100128069	CCTTA	C	VPS13B	c.901_904del	NM_017890.5	NP_060360.3:p.(Thr301ValfsTer7)	NC_000008.10:g.100128066_100128069del	(Likely) pathogenic	2 labs	9d0bc72708
22:50897745 SBF1 G>A	22	50897745	50897745	G	A	SBF1	c.3765C>T	NM_002972.4	NP_002963.2:p.(Tyr1255=)	NC_000022.10:g.50897745G>A	(Likely) benign	2 labs	9d1ba7306e
2:238455241 MLPH C>T	2	238455241	238455241	C	T	MLPH	c.1540-8C>T	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238455241C>T	(Likely) benign	3 labs	9d1bc4c90c
1:183212412 LAMC2 G>A	1	183212412	183212412	G	A	LAMC2	c.3459G>A	NM_005562.3	NP_005553.2:p.(Arg1153=)	NC_000001.10:g.183212412G>A	(Likely) benign	2 labs	9d41f90160
2:62067006 FAM161A A>C	2	62067006	62067006	A	C	FAM161A	c.1133T>G	NM_001201543.2	NP_001188472.1:p.(Leu378Arg)	NC_000002.11:g.62067006A>C	(Likely) benign	3 labs	9d45ce0257
7:91646406 AKAP9 G>A	7	91646406	91646406	G	A	AKAP9	c.3827G>A	NM_005751.5	NP_005742.4:p.(Arg1276Gln)	NC_000007.13:g.91646406G>A	(Likely) benign	3 labs	9d52dfdf42
7:155596413 SHH C>T	7	155596413	155596413	C	T	SHH	c.570G>A	NM_000193.4	NP_000184.1:p.(Ser190=)	NC_000007.13:g.155596413C>T	(Likely) benign	2 labs	9d58ae9621
7:81695793 CACNA2D1 A>G	7	81695793	81695793	A	G	CACNA2D1	c.706T>C	NM_000722.4	NP_000713.2:p.(Tyr236His)	NC_000007.13:g.81695793A>G	VUS	2 labs	9d627066ef
11:45931647 PEX16 T>G	11	45931647	45931647	T	G	PEX16	c.1034A>C	NM_057174.3	NP_476515.2:p.(His345Pro)	NC_000011.9:g.45931647T>G	(Likely) benign	2 labs	9d5c52dec7
19:4099272 MAP2K2 G>A	19	4099272	4099272	G	A	MAP2K2	c.846C>T	NM_030662.4	NP_109587.1:p.(Pro282=)	NC_000019.9:g.4099272G>A	(Likely) benign	3 labs	9d630b8189
3:49701910 BSN C>T	3	49701910	49701910	C	T	BSN	c.11663C>T	NM_003458.4	NP_003449.2:p.(Pro3888Leu)	NC_000003.11:g.49701910C>T	(Likely) benign	2 labs	9d6547c2ab
10:112544125 RBM20 C>T	10	112544125	112544125	C	T	RBM20	c.1364C>T	NM_001134363.3	NP_001127835.2:p.(Ser455Leu)	NC_000010.10:g.112544125C>T	(Likely) benign	4 labs	9d692c994a
8:62580820 ASPH C>CTGGGA	8	62580820	62580821	C	CTGGGA	ASPH	c.294_295insTCCCA	NM_020164.5	NP_064549.1:p.(Val99SerfsTer3)	NC_000008.10:g.62580820_62580821insTGGGA	(Likely) benign	2 labs	9d72a87a34
17:63533087 AXIN2 C>G	17	63533087	63533087	C	G	AXIN2	c.1807G>C	NM_004655.4	NP_004646.3:p.(Ala603Pro)	NC_000017.10:g.63533087C>G	(Likely) benign	3 labs	9d779cccfb
12:2694668 CACNA1C G>A	12	2694668	2694668	G	A	CACNA1C	c.2460+6G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2694668G>A	(Likely) benign	2 labs	9d7bb4b2ab
1:116268178 CASQ2 GAA>G	1	116268178	116268201	GAA	G	CASQ2	c.738-6_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268200_116268201del	(Likely) benign	4 labs	9d84373763
9:79888264 VPS13A A>T	9	79888264	79888264	A	T	VPS13A	c.2496A>T	NM_033305.3	NP_150648.2:p.(Pro832=)	NC_000009.11:g.79888264A>T	(Likely) benign	2 labs	9d850b609e
6:152675854 SYNE1 A>G	6	152675854	152675854	A	G	SYNE1	c.10866T>C	NM_182961.4	NP_892006.3:p.(Ser3622=)	NC_000006.11:g.152675854A>G	(Likely) benign	3 labs	9d852bed1e
9:111665962 ELP1 A>G	9	111665962	111665962	A	G	ELP1	c.1644-13T>C	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111665962A>G	(Likely) benign	2 labs	9d8c16f210
2:179544076 TTN C>T	2	179544076	179544076	C	T	TTN	c.33732G>A	NM_001267550.2	NP_001254479.2:p.(Pro11244=)	NC_000002.11:g.179544076C>T	(Likely) benign	3 labs	9d93233d0e
16:23647467 PALB2 C>T	16	23647467	23647467	C	T	PALB2	c.400G>A	NM_024675.4	NP_078951.2:p.(Asp134Asn)	NC_000016.9:g.23647467C>T	(Likely) benign	3 labs	9d9977a2e4
13:103514459 ERCC5 C>T	13	103514459	103514459	C	T	ERCC5	c.960C>T	NM_000123.4	NP_000114.3:p.(Asp320=)	NC_000013.10:g.103514459C>T	(Likely) benign	2 labs	9d9dafeb5b
X:135292018 FHL1 TTTTC>T	X	135292018	135292022	TTTTC	T	FHL1	c.689-11_689-8del	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292019_135292022del	(Likely) benign	2 labs	9da2287b4e
2:179480377 TTN T>C	2	179480377	179480377	T	C	TTN	c.48451A>G	NM_001267550.2	NP_001254479.2:p.(Thr16151Ala)	NC_000002.11:g.179480377T>C	(Likely) benign	2 labs	9da7d98251
16:23635315 PALB2 T>C	16	23635315	23635315	T	C	PALB2	c.2834+15A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635315T>C	(Likely) benign	2 labs	9da9cd9888
2:241685283 KIF1A G>A	2	241685283	241685283	G	A	KIF1A	c.3246C>T	NM_001244008.2	NP_001230937.1:p.(Ala1082=)	NC_000002.11:g.241685283G>A	(Likely) benign	3 labs	9dad93428c
4:120107310 MYOZ2 C>T	4	120107310	120107310	C	T	MYOZ2	c.750C>T	NM_016599.5	NP_057683.1:p.(Thr250=)	NC_000004.11:g.120107310C>T	(Likely) benign	3 labs	9db078695a
1:235940600 LYST A>G	1	235940600	235940600	A	G	LYST	c.5223T>C	NM_001301365.1	NP_001288294.1:p.(Leu1741=)	NC_000001.10:g.235940600A>G	(Likely) benign	3 labs	9db5435d06
2:21230447 APOB T>C	2	21230447	21230447	T	C	APOB	c.9293A>G	NM_000384.3	NP_000375.3:p.(Tyr3098Cys)	NC_000002.11:g.21230447T>C	VUS	2 labs	9db7a17d19
2:179584031 TTN G>A	2	179584031	179584031	G	A	TTN	c.24086C>T	NM_001267550.2	NP_001254479.2:p.(Pro8029Leu)	NC_000002.11:g.179584031G>A	VUS	3 labs	9db7ab42fb
12:88510928 CEP290 T>C	12	88510928	88510928	T	C	CEP290	c.1712-6A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88510928T>C	(Likely) benign	4 labs	9db85c3b38
1:103364487 COL11A1 T>A	1	103364487	103364487	T	A	COL11A1	c.4176+10A>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103364487T>A	(Likely) benign	2 labs	9db8b0c8d3
6:112476767 LAMA4 A>G	6	112476767	112476767	A	G	LAMA4	c.1959T>C	NM_001105206.3	NP_001098676.2:p.(Asp653=)	NC_000006.11:g.112476767A>G	(Likely) benign	4 labs	9dc18fdebb
19:54626948 PRPF31 G>T	19	54626948	54626948	G	T	PRPF31	c.527+9G>T	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54626948G>T	(Likely) benign	2 labs	9dc3ab2e93
4:119666217 SEC24D T>TA	4	119666217	119666232	T	TA	SEC24D	c.1711-3dup	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119666232dup	(Likely) benign	2 labs	9dda4e83eb
11:62384066 B3GAT3 G>T	11	62384066	62384066	G	T	B3GAT3	c.821C>A	NM_012200.4	NP_036332.2:p.(Thr274Asn)	NC_000011.9:g.62384066G>T	(Likely) benign	2 labs	9ddaae0771
1:12058890 MFN2 T>C	1	12058890	12058890	T	C	MFN2	c.663T>C	NM_014874.4	NP_055689.1:p.(Asp221=)	NC_000001.10:g.12058890T>C	(Likely) benign	2 labs	9ddeafd4e2
2:179543232 TTN G>A	2	179543232	179543232	G	A	TTN	c.33827-8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179543232G>A	(Likely) benign	2 labs	9de035525d
5:148406713 SH3TC2 C>T	5	148406713	148406713	C	T	SH3TC2	c.2582G>A	NM_024577.4	NP_078853.2:p.(Arg861Gln)	NC_000005.9:g.148406713C>T	VUS	2 labs	9de64a7eca
16:23647188 PALB2 C>T	16	23647188	23647188	C	T	PALB2	c.679G>A	NM_024675.4	NP_078951.2:p.(Ala227Thr)	NC_000016.9:g.23647188C>T	(Likely) benign	2 labs	9de6848d37
14:23901830 MYH7 C>T	14	23901830	23901830	C	T	MYH7	c.502+18G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23901830C>T	(Likely) benign	2 labs	9de9982e12
5:112162779 APC T>G	5	112162779	112162779	T	G	APC	c.1409-26T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162779T>G	(Likely) benign	2 labs	9df7667921
14:89307838 TTC8 C>T	14	89307838	89307838	C	T	TTC8	c.529C>T	NM_001366535.2	NP_001353464.1:p.(Gln177Ter)	NC_000014.8:g.89307838C>T	(Likely) pathogenic	2 labs	9e0313ff0d
19:49704023 TRPM4 T>C	19	49704023	49704023	T	C	TRPM4	c.2934T>C	NM_017636.4	NP_060106.2:p.(Ile978=)	NC_000019.9:g.49704023T>C	(Likely) benign	2 labs	9e06f95619
5:147784367 FBXO38 G>A	5	147784367	147784367	G	A	FBXO38	c.712G>A	NM_205836.3	NP_995308.1:p.(Val238Ile)	NC_000005.9:g.147784367G>A	VUS	2 labs	9e15e13671
2:172305175 DCAF17 C>CT	2	172305175	172305176	C	CT	DCAF17	c.322-15dup	NM_025000.4	NP_079276.2:p.?	NC_000002.11:g.172305176dup	(Likely) benign	2 labs	9e25e26877
3:38627421 SCN5A C>T	3	38627421	38627421	C	T	SCN5A	c.2548G>A	NM_198056.3	NP_932173.1:p.(Val850Met)	NC_000003.11:g.38627421C>T	VUS	2 labs	9e1af1d8b3
2:179560784 TTN CATA>C	2	179560784	179560791	CATA	C	TTN	c.31012_31014del	NM_001267550.2	NP_001254479.2:p.(Tyr10338del)	NC_000002.11:g.179560789_179560791del	VUS	2 labs	9e4c1a08f6
1:196711189 CFH G>T	1	196711189	196711189	G	T	CFH	c.3133+8G>T	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196711189G>T	(Likely) benign	2 labs	9e4b2e6a1d
22:38379774 SOX10 G>A	22	38379774	38379774	G	A	SOX10	c.18C>T	NM_006941.4	NP_008872.1:p.(Asp6=)	NC_000022.10:g.38379774G>A	(Likely) benign	2 labs	9e4bc39758
15:35085681 ACTC1 G>A	15	35085681	35085681	G	A	ACTC1	c.219C>T	NM_005159.5	NP_005150.1:p.(Ile73=)	NC_000015.9:g.35085681G>A	(Likely) benign	2 labs	9e4cf5220a
9:138594163 KCNT1 G>C	9	138594163	138594163	G	C	KCNT1	c.59G>C	NM_001272003.2	NP_001258932.1:p.(Gly20Ala)	NC_000009.11:g.138594163G>C	(Likely) benign	2 labs	9e4f2d55bd
16:68867388 CDH1 G>A	16	68867388	68867388	G	A	CDH1	c.2635G>A	NM_004360.5	NP_004351.1:p.(Gly879Ser)	NC_000016.9:g.68867388G>A	(Likely) benign	3 labs	9e535da1c7
22:33255244 TIMP3 C>T	22	33255244	33255244	C	T	TIMP3	c.516C>T	NM_000362.5	NP_000353.1:p.(Phe172=)	NC_000022.10:g.33255244C>T	(Likely) benign	3 labs	9e555617b4
11:65638133 EFEMP2 C>T	11	65638133	65638133	C	T	EFEMP2	c.368-4G>A	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65638133C>T	(Likely) benign	4 labs	9e586641f5
19:6679512 C3 G>A	19	6679512	6679512	G	A	C3	c.4457-5C>T	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6679512G>A	(Likely) benign	4 labs	9e61f03eaf
11:31822369 PAX6 A>G	11	31822369	31822369	A	G	PAX6	c.636T>C	NM_001368910.2	NP_001355839.1:p.(Ala212=)	NC_000011.9:g.31822369A>G	(Likely) benign	2 labs	9e62a0734a
2:48026467 MSH6 C>T	2	48026467	48026467	C	T	MSH6	c.1345C>T	NM_000179.3	NP_000170.1:p.(Leu449=)	NC_000002.11:g.48026467C>T	(Likely) benign	4 labs	9e662891f4
3:38941574 SCN11A G>T	3	38941574	38941574	G	T	SCN11A	c.1843-10C>A	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38941574G>T	(Likely) benign	4 labs	9e6ba912f3
4:1807118 FGFR3 C>T	4	1807118	1807118	C	T	FGFR3	c.1455C>T	NM_001163213.2	NP_001156685.1:p.(Phe485=)	NC_000004.11:g.1807118C>T	(Likely) benign	2 labs	9e7362a751
10:112572141 RBM20 G>A	10	112572141	112572141	G	A	RBM20	c.1986G>A	NM_001134363.3	NP_001127835.2:p.(Pro662=)	NC_000010.10:g.112572141G>A	(Likely) benign	5 labs	9e78e96b99
2:73613224 ALMS1 C>G	2	73613224	73613224	C	G	ALMS1	c.231C>G	NM_015120.4	NP_055935.4:p.(Ala77=)	NC_000002.11:g.73613224C>G	(Likely) benign	2 labs	9e7a20c889
5:64097126 CWC27 T>C	5	64097126	64097126	T	C	CWC27	c.750-3T>C	NM_001297645.2	NP_001284574.1:p.?	NC_000005.9:g.64097126T>C	(Likely) benign	2 labs	9e7ae26caf
18:12367130 AFG3L2 G>C	18	12367130	12367130	G	C	AFG3L2	c.400-14C>G	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12367130G>C	(Likely) benign	2 labs	9e7b7471d9
7:73470719 ELN C>G	7	73470719	73470719	C	G	ELN	c.1269C>G	NM_000501.4	NP_000492.2:p.(Val423=)	NC_000007.13:g.73470719C>G	(Likely) benign	4 labs	9e98632ba2
19:11144459 SMARCA4 C>T	19	11144459	11144459	C	T	SMARCA4	c.3791C>T	NM_001128844.3	NP_001122316.1:p.(Thr1264Met)	NC_000019.9:g.11144459C>T	(Likely) benign	2 labs	9e9ee313c7
12:110252569 TRPV4 C>A	12	110252569	110252569	C	A	TRPV4	c.33G>T	NM_021625.5	NP_067638.3:p.(Gly11=)	NC_000012.11:g.110252569C>A	(Likely) benign	3 labs	9eb890b8b8
18:21124914 NPC1 C>T	18	21124914	21124914	C	T	NPC1	c.1947+10G>A	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124914C>T	(Likely) benign	3 labs	9eb8a4dc56
12:57908817 MARS1 G>A	12	57908817	57908817	G	A	MARS1	c.2180G>A	NM_004990.4	NP_004981.2:p.(Arg727Gln)	NC_000012.11:g.57908817G>A	(Likely) benign	2 labs	9ebd6b2eda
10:112581424 RBM20 G>C	10	112581424	112581424	G	C	RBM20	c.3047G>C	NM_001134363.3	NP_001127835.2:p.(Gly1016Ala)	NC_000010.10:g.112581424G>C	(Likely) benign	2 labs	9ebe5fa342
10:69959343 MYPN C>T	10	69959343	69959343	C	T	MYPN	c.3493+11C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69959343C>T	(Likely) benign	2 labs	9ebf646485
3:139097902 COPB2 A>G	3	139097902	139097902	A	G	COPB2	c.342T>C	NM_004766.3	NP_004757.1:p.(Ile114=)	NC_000003.11:g.139097902A>G	(Likely) benign	2 labs	9eca82f5c6
12:57975742 KIF5A G>GA	12	57975742	57975747	G	GA	KIF5A	c.2992+12dup	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57975747dup	(Likely) benign	2 labs	9ecb37f6ab
11:76919522 MYO7A C>T	11	76919522	76919522	C	T	MYO7A	c.5904C>T	NM_000260.4	NP_000251.3:p.(His1968=)	NC_000011.9:g.76919522C>T	(Likely) benign	2 labs	9ed186fe0f
2:179554525 TTN C>T	2	179554525	179554525	C	T	TTN	c.31846+15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554525C>T	(Likely) benign	2 labs	9ed4956557
16:88804364 PIEZO1 C>T	16	88804364	88804364	C	T	PIEZO1	c.998G>A	NM_001142864.4	NP_001136336.2:p.(Arg333His)	NC_000016.9:g.88804364C>T	(Likely) benign	3 labs	9ed67d6978
X:14861942 FANCB G>A	X	14861942	14861942	G	A	FANCB	c.2327C>T	NM_001018113.3	NP_001018123.1:p.(Ala776Val)	NC_000023.10:g.14861942G>A	(Likely) benign	3 labs	9ee9f96b14
3:30732905 TGFBR2 G>A	3	30732905	30732905	G	A	TGFBR2	c.1600-7G>A	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30732905G>A	(Likely) benign	2 labs	9eea71cc95
7:140453987 BRAF T>C	7	140453987	140453987	T	C	BRAF	c.1741A>G	NM_004333.6	NP_004324.2:p.(Asn581Asp)	NC_000007.13:g.140453987T>C	(Likely) pathogenic	2 labs	9f09b1eb51
2:179528558 TTN G>T	2	179528558	179528558	G	T	TTN	c.36436C>A	NM_001267550.2	NP_001254479.2:p.(Pro12146Thr)	NC_000002.11:g.179528558G>T	VUS	2 labs	9f16982a53
12:57884125 MARS1 G>A	12	57884125	57884125	G	A	MARS1	c.626G>A	NM_004990.4	NP_004981.2:p.(Ser209Asn)	NC_000012.11:g.57884125G>A	(Likely) benign	2 labs	9f1f55c41c
2:179638238 TTN G>A	2	179638238	179638238	G	A	TTN	c.7545C>T	NM_001267550.2	NP_001254479.2:p.(Tyr2515=)	NC_000002.11:g.179638238G>A	(Likely) benign	2 labs	9f20b422e8
3:50230941 GNAT1 C>T	3	50230941	50230941	C	T	GNAT1	c.294C>T	NM_144499.3	NP_653082.1:p.(Asp98=)	NC_000003.11:g.50230941C>T	(Likely) benign	2 labs	9f21b5b8df
3:52676065 PBRM1 CA>C	3	52676065	52676078	CA	C	PBRM1	c.1050-5del	NM_001350077.2	NP_001337006.1:p.?	NC_000003.11:g.52676078del	(Likely) benign	2 labs	9f238ca5a0
8:42296992 SLC20A2 C>T	8	42296992	42296992	C	T	SLC20A2	c.910G>A	NM_001257180.2	NP_001244109.1:p.(Gly304Ser)	NC_000008.10:g.42296992C>T	(Likely) benign	2 labs	9f37c17b65
7:42065944 GLI3 G>A	7	42065944	42065944	G	A	GLI3	c.1096C>T	NM_000168.6	NP_000159.3:p.(Arg366Ter)	NC_000007.13:g.42065944G>A	(Likely) pathogenic	2 labs	9f38fd5fa0
5:77471634 AP3B1 T>C	5	77471634	77471634	T	C	AP3B1	c.922A>G	NM_001271769.2	NP_001258698.1:p.(Ile308Val)	NC_000005.9:g.77471634T>C	(Likely) benign	3 labs	9f41f956f4
11:108202611 ATM CTCTAGAATT>C	11	108202611	108202622	CTCTAGAATT	C	ATM	c.7638_7646del	NM_000051.4	NP_000042.3:p.(Arg2547_Ser2549del)	NC_000011.9:g.108202614_108202622del	(Likely) pathogenic	2 labs	9f4e636abd
6:112528202 LAMA4 C>A	6	112528202	112528202	C	A	LAMA4	c.422+20G>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112528202C>A	(Likely) benign	2 labs	9f55277fde
14:89337920 TTC8 C>T	14	89337920	89337920	C	T	TTC8	c.483C>T	NM_001288782.1	NP_001275711.1:p.(Asn161=)	NC_000014.8:g.89337920C>T	(Likely) benign	3 labs	9f59ef8438
6:70965044 COL9A1 T>A	6	70965044	70965044	T	A	COL9A1	c.1553A>T	NM_001851.6	NP_001842.3:p.(Asp518Val)	NC_000006.11:g.70965044T>A	VUS	2 labs	9f62bfab9e
7:112090782 IFRD1 T>C	7	112090782	112090782	T	C	IFRD1	c.39T>C	NM_001007245.3	NP_001007246.1:p.(Gly13=)	NC_000007.13:g.112090782T>C	(Likely) benign	2 labs	9f6eefb0ff
5:82816153 VCAN A>G	5	82816153	82816153	A	G	VCAN	c.2028A>G	NM_004385.5	NP_004376.2:p.(Leu676=)	NC_000005.9:g.82816153A>G	(Likely) benign	2 labs	9f7053a151
21:47417695 COL6A1 G>C	21	47417695	47417695	G	C	COL6A1	c.1524+19G>C	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47417695G>C	(Likely) benign	2 labs	9f741c39f7
12:32687352 FGD4 A>G	12	32687352	32687352	A	G	FGD4	c.-326A>G	NM_001385118.1	NP_001372047.1:p.?	NC_000012.11:g.32687352A>G	(Likely) benign	2 labs	9f750d3793
14:88459449 GALC G>A	14	88459449	88459449	G	A	GALC	c.60C>T	NM_000153.4	NP_000144.2:p.(Ala20=)	NC_000014.8:g.88459449G>A	(Likely) benign	2 labs	9f7e0f9b2b
14:51228577 NIN C>G	14	51228577	51228577	C	G	NIN	c.1827G>C	NM_020921.4	NP_065972.4:p.(Leu609=)	NC_000014.8:g.51228577C>G	(Likely) benign	2 labs	9f94acc2cd
1:237863770 RYR2 A>G	1	237863770	237863770	A	G	RYR2	c.9367+3A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237863770A>G	VUS	2 labs	9f9ab14862
1:115252280 NRAS C>T	1	115252280	115252280	C	T	NRAS	c.360G>A	NM_002524.5	NP_002515.1:p.(Leu120=)	NC_000001.10:g.115252280C>T	(Likely) benign	3 labs	9fa154d033
X:49074994 CACNA1F C>T	X	49074994	49074994	C	T	CACNA1F	c.2881G>A	NM_005183.4	NP_005174.2:p.(Ala961Thr)	NC_000023.10:g.49074994C>T	VUS	3 labs	9fa15c1c87
2:179469609 TTN T>C	2	179469609	179469609	T	C	TTN	c.54207A>G	NM_001267550.2	NP_001254479.2:p.(Pro18069=)	NC_000002.11:g.179469609T>C	(Likely) benign	2 labs	9fa1d912fa
4:126367606 FAT4 G>T	4	126367606	126367606	G	T	FAT4	c.7358G>T	NM_001291303.3	NP_001278232.1:p.(Ser2453Ile)	NC_000004.11:g.126367606G>T	(Likely) benign	3 labs	9fa26aab34
9:139438552 NOTCH1 G>A	9	139438552	139438552	G	A	NOTCH1	c.64C>T	NM_017617.5	NP_060087.3:p.(Pro22Ser)	NC_000009.11:g.139438552G>A	(Likely) benign	3 labs	9fb8584aeb
19:47260147 FKRP C>T	19	47260147	47260147	C	T	FKRP	c.1440C>T	NM_001039885.3	NP_001034974.1:p.(Asn480=)	NC_000019.9:g.47260147C>T	(Likely) benign	2 labs	9fbe44c5b1
7:33427698 BBS9 A>T	7	33427698	33427698	A	T	BBS9	c.2057A>T	NM_198428.3	NP_940820.1:p.(Asp686Val)	NC_000007.13:g.33427698A>T	VUS	2 labs	9fc00a7809
16:70286740 AARS1 C>T	16	70286740	70286740	C	T	AARS1	c.2791G>A	NM_001605.3	NP_001596.2:p.(Gly931Ser)	NC_000016.9:g.70286740C>T	(Likely) benign	2 labs	9fc332b0c6
2:74076622 STAMBP G>GA	2	74076622	74076632	G	GA	STAMBP	c.867+18dup	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74076632dup	(Likely) benign	2 labs	9fcf1f7a6c
19:17735631 UNC13A G>A	19	17735631	17735631	G	A	UNC13A	c.4197+7C>T	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17735631G>A	(Likely) benign	2 labs	9fe9e4d2a6
3:4714949 ITPR1 C>T	3	4714949	4714949	C	T	ITPR1	c.2289C>T	NM_001168272.2	NP_001161744.1:p.(Leu763=)	NC_000003.11:g.4714949C>T	(Likely) benign	2 labs	9fea0e3530
11:65321801 LTBP3 G>A	11	65321801	65321801	G	A	LTBP3	c.382C>T	NM_001130144.3	NP_001123616.1:p.(Gln128Ter)	NC_000011.9:g.65321801G>A	(Likely) pathogenic	2 labs	9fec756791
X:153583250 FLNA G>A	X	153583250	153583250	G	A	FLNA	c.5160C>T	NM_001110556.2	NP_001104026.1:p.(Tyr1720=)	NC_000023.10:g.153583250G>A	(Likely) benign	2 labs	9fef964137
2:179556735 TTN TGGC>T	2	179556735	179556739	TGGC	T	TTN	c.31762+5_31762+7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179556737_179556739del	(Likely) benign	4 labs	9ff338c77a
6:157454308 ARID1B T>TA	6	157454308	157454309	T	TA	ARID1B	c.2768dup	NM_001371656.1	NP_001358585.1:p.(Tyr923Ter)	NC_000006.11:g.157454309dup	(Likely) pathogenic	2 labs	9fefee8a2c
1:45973072 MMACHC G>A	1	45973072	45973072	G	A	MMACHC	c.126G>A	NM_015506.3	NP_056321.2:p.(Pro42=)	NC_000001.10:g.45973072G>A	(Likely) benign	4 labs	9ff3f7bef6
6:149700179 TAB2 G>A	6	149700179	149700179	G	A	TAB2	c.1128G>A	NM_015093.6	NP_055908.1:p.(Thr376=)	NC_000006.11:g.149700179G>A	(Likely) benign	4 labs	9ff6623eeb
2:179656865 TTN G>C	2	179656865	179656865	G	C	TTN	c.1596C>G	NM_001267550.2	NP_001254479.2:p.(Ala532=)	NC_000002.11:g.179656865G>C	(Likely) benign	2 labs	9ffc5db628
14:76438002 TGFB3 A>C	14	76438002	76438002	A	C	TGFB3	c.412T>G	NM_003239.5	NP_003230.1:p.(Ser138Ala)	NC_000014.8:g.76438002A>C	VUS	3 labs	9ffe3e6c9b
14:21811213 RPGRIP1 A>G	14	21811213	21811213	A	G	RPGRIP1	c.3358A>G	NM_020366.4	NP_065099.3:p.(Ile1120Val)	NC_000014.8:g.21811213A>G	VUS	2 labs	a005e172b1
2:179428149 TTN T>C	2	179428149	179428149	T	C	TTN	c.75006A>G	NM_133378.4	NP_596869.4:p.(Pro25002=)	NC_000002.11:g.179428149T>C	(Likely) benign	2 labs	a00efdffca
2:220344809 SPEG T>C	2	220344809	220344809	T	C	SPEG	c.5289T>C	NM_005876.5	NP_005867.3:p.(Phe1763=)	NC_000002.11:g.220344809T>C	(Likely) benign	3 labs	a0124dfbc5
22:50901284 SBF1 C>T	22	50901284	50901284	C	T	SBF1	c.1968+15G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50901284C>T	(Likely) benign	2 labs	a019804ec5
10:75849891 VCL T>A	10	75849891	75849891	T	A	VCL	c.1287T>A	NM_014000.3	NP_054706.1:p.(Asp429Glu)	NC_000010.10:g.75849891T>A	VUS	2 labs	a01ab071f8
1:156104248 LMNA C>T	1	156104248	156104248	C	T	LMNA	c.568C>T	NM_170707.4	NP_733821.1:p.(Arg190Trp)	NC_000001.10:g.156104248C>T	(Likely) pathogenic	2 labs	a021a9687a
13:32912805 BRCA2 TC>T	13	32912805	32912806	TC	T	BRCA2	c.4314del	NM_000059.4	NP_000050.3:p.(Ala1439ProfsTer9)	NC_000013.10:g.32912806del	(Likely) pathogenic	3 labs	a02ff87937
1:227170708 COQ8A C>T	1	227170708	227170708	C	T	COQ8A	c.1053C>T	NM_020247.5	NP_064632.2:p.(Gly351=)	NC_000001.10:g.227170708C>T	(Likely) benign	2 labs	a02703a127
9:35060934 VCP G>C	9	35060934	35060934	G	C	VCP	c.1360-14C>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35060934G>C	(Likely) benign	3 labs	a03d4f8c53
2:179641360 TTN G>A	2	179641360	179641360	G	A	TTN	c.5231C>T	NM_001267550.2	NP_001254479.2:p.(Pro1744Leu)	NC_000002.11:g.179641360G>A	(Likely) benign	3 labs	a03d611a4f
2:73827957 ALMS1 G>A	2	73827957	73827957	G	A	ALMS1	c.11824G>A	NM_015120.4	NP_055935.4:p.(Gly3942Ser)	NC_000002.11:g.73827957G>A	(Likely) benign	4 labs	a0464b2552
12:21958188 ABCC9 A>ATTT	12	21958188	21958189	A	ATTT	ABCC9	c.4569_4570insAAA	NM_005691.4	NP_005682.2:p.(Ile1523_Leu1524insLys)	NC_000012.11:g.21958188_21958189insTTT	VUS	4 labs	a04b6a9658
22:29092893 CHEK2 A>G	22	29092893	29092893	A	G	CHEK2	c.1091T>C	NM_007194.4	NP_009125.1:p.(Ile364Thr)	NC_000022.10:g.29092893A>G	VUS	2 labs	a04ac3620d
9:12695565 TYRP1 C>T	9	12695565	12695565	C	T	TYRP1	c.436C>T	NM_000550.3	NP_000541.1:p.(Arg146Trp)	NC_000009.11:g.12695565C>T	VUS	2 labs	a0572d0266
6:7583855 DSP C>T	6	7583855	7583855	C	T	DSP	c.6360C>T	NM_004415.4	NP_004406.2:p.(Thr2120=)	NC_000006.11:g.7583855C>T	(Likely) benign	2 labs	a06523d9fd
1:216497611 USH2A C>T	1	216497611	216497611	C	T	USH2A	c.1227G>A	NM_206933.4	NP_996816.3:p.(Trp409Ter)	NC_000001.10:g.216497611C>T	(Likely) pathogenic	3 labs	a070ee4d02
9:138664648 KCNT1 C>T	9	138664648	138664648	C	T	KCNT1	c.2096C>T	NM_020822.3	NP_065873.2:p.(Thr699Met)	NC_000009.11:g.138664648C>T	(Likely) benign	2 labs	a070fb1171
7:6013096 PMS2 C>T	7	6013096	6013096	C	T	PMS2	c.2523G>A	NM_000535.7	NP_000526.2:p.(Trp841Ter)	NC_000007.13:g.6013096C>T	VUS	3 labs	a073c4e57f
14:23902821 MYH7 C>T	14	23902821	23902821	C	T	MYH7	c.121G>A	NM_000257.4	NP_000248.2:p.(Asp41Asn)	NC_000014.8:g.23902821C>T	VUS	2 labs	a07c1c6d04
12:33031023 PKP2 G>A	12	33031023	33031023	G	A	PKP2	c.791C>T	NM_004572.4	NP_004563.2:p.(Ala264Val)	NC_000012.11:g.33031023G>A	(Likely) benign	2 labs	a07f34f9d4
15:23049282 NIPA1 G>A	15	23049282	23049282	G	A	NIPA1	c.537C>T	NM_144599.5	NP_653200.2:p.(Ile179=)	NC_000015.9:g.23049282G>A	(Likely) benign	2 labs	a08585ca16
2:47596649 EPCAM C>T	2	47596649	47596649	C	T	EPCAM	c.5C>T	NM_002354.3	NP_002345.2:p.(Ala2Val)	NC_000002.11:g.47596649C>T	(Likely) benign	3 labs	a08df9efb1
14:89343670 TTC8 G>C	14	89343670	89343670	G	C	TTC8	c.870G>C	NM_001288782.1	NP_001275711.1:p.(Ala290=)	NC_000014.8:g.89343670G>C	(Likely) benign	2 labs	a09018d945
20:19951534 RIN2 T>A	20	19951534	19951534	T	A	RIN2	c.736T>A	NM_001242581.2	NP_001229510.1:p.(Ser246Thr)	NC_000020.10:g.19951534T>A	(Likely) benign	2 labs	a092e72002
11:108214007 ATM T>C	11	108214007	108214007	T	C	ATM	c.8327T>C	NM_000051.4	NP_000042.3:p.(Ile2776Thr)	NC_000011.9:g.108214007T>C	VUS	2 labs	a0a8b85830
9:135778098 TSC1 T>C	9	135778098	135778098	T	C	TSC1	c.2285A>G	NM_000368.5	NP_000359.1:p.(Asn762Ser)	NC_000009.11:g.135778098T>C	(Likely) benign	3 labs	a0ad126e26
20:10644602 JAG1 G>A	20	10644602	10644602	G	A	JAG1	c.439+9C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10644602G>A	(Likely) benign	2 labs	a0b4b439a5
13:103519015 ERCC5 C>T	13	103519015	103519015	C	T	ERCC5	c.2353C>T	NM_000123.4	NP_000114.3:p.(Gln785Ter)	NC_000013.10:g.103519015C>T	(Likely) pathogenic	2 labs	a0b7fc7043
1:94484001 ABCA4 C>A	1	94484001	94484001	C	A	ABCA4	c.5196+1137G>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94484001C>A	(Likely) pathogenic	2 labs	a0ba008ac1
12:76741994 BBS10 G>A	12	76741994	76741994	G	A	BBS10	c.145C>T	NM_024685.4	NP_078961.3:p.(Arg49Trp)	NC_000012.11:g.76741994G>A	(Likely) pathogenic	5 labs	a0bb7361bb
11:108153424 ATM T>C	11	108153424	108153424	T	C	ATM	c.3577-13T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108153424T>C	VUS	3 labs	a0bed0c5b3
4:121738070 PRDM5 C>T	4	121738070	121738070	C	T	PRDM5	c.660G>A	NM_018699.4	NP_061169.2:p.(Gln220=)	NC_000004.11:g.121738070C>T	(Likely) benign	2 labs	a0c4714c77
X:44923001 KDM6A G>A	X	44923001	44923001	G	A	KDM6A	c.2018G>A	NM_001291415.2	NP_001278344.1:p.(Arg673His)	NC_000023.10:g.44923001G>A	VUS	2 labs	a0d643fd15
17:36093863 HNF1B G>GCAGA	17	36093863	36093885	G	GCAGA	HNF1B	c.545-53_545-50dup	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36093882_36093885dup	(Likely) benign	2 labs	a0d9ca0ede
2:179642683 TTN C>G	2	179642683	179642683	C	G	TTN	c.4228G>C	NM_133378.4	NP_596869.4:p.(Val1410Leu)	NC_000002.11:g.179642683C>G	VUS	2 labs	a0dc3360bf
19:38973933 RYR1 A>G	19	38973933	38973933	A	G	RYR1	c.4711A>G	NM_000540.3	NP_000531.2:p.(Ile1571Val)	NC_000019.9:g.38973933A>G	VUS	3 labs	a0dd20dcc5
12:25398295 KRAS T>C	12	25398295	25398295	T	C	KRAS	c.24A>G	NM_033360.4	NP_203524.1:p.(Val8=)	NC_000012.11:g.25398295T>C	(Likely) benign	5 labs	a0e31096b0
2:220077134 ABCB6 C>T	2	220077134	220077134	C	T	ABCB6	c.1943G>A	NM_005689.4	NP_005680.1:p.(Arg648Gln)	NC_000002.11:g.220077134C>T	(Likely) benign	2 labs	a0f929cd08
9:139413877 NOTCH1 G>A	9	139413877	139413877	G	A	NOTCH1	c.865+18C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139413877G>A	(Likely) benign	2 labs	a11e762142
7:1535185 INTS1 C>T	7	1535185	1535185	C	T	INTS1	c.1716G>A	NM_001080453.3	NP_001073922.2:p.(Leu572=)	NC_000007.13:g.1535185C>T	(Likely) benign	2 labs	a12330f957
10:81928766 ANXA11 G>A	10	81928766	81928766	G	A	ANXA11	c.520C>T	NM_001278408.2	NP_001265337.1:p.(Pro174Ser)	NC_000010.10:g.81928766G>A	(Likely) benign	3 labs	a127d549fb
18:34232735 FHOD3 C>T	18	34232735	34232735	C	T	FHOD3	c.1489C>T	NM_001281740.3	NP_001268669.1:p.(Arg497Trp)	NC_000018.9:g.34232735C>T	(Likely) benign	2 labs	a12b8109e8
16:23641110 PALB2 G>A	16	23641110	23641110	G	A	PALB2	c.2365C>T	NM_024675.4	NP_078951.2:p.(Leu789=)	NC_000016.9:g.23641110G>A	(Likely) benign	3 labs	a132adb3a2
12:49580195 TUBA1A T>C	12	49580195	49580195	T	C	TUBA1A	c.273A>G	NM_001270399.2	NP_001257328.1:p.(Gln91=)	NC_000012.11:g.49580195T>C	(Likely) benign	2 labs	a133e9b3c4
6:26157043 H1-4 C>CG	6	26157043	26157048	C	CG	H1-4	c.430dup	NM_005321.3	NP_005312.1:p.(Ala144GlyfsTer52)	NC_000006.11:g.26157048dup	(Likely) pathogenic	2 labs	a13702dcfb
8:55539174 RP1 C>G	8	55539174	55539174	C	G	RP1	c.2732C>G	NM_006269.2	NP_006260.1:p.(Ser911Ter)	NC_000008.10:g.55539174C>G	(Likely) pathogenic	2 labs	a13ac86e05
1:10363664 KIF1B G>T	1	10363664	10363664	G	T	KIF1B	c.2421G>T	NM_183416.4	NP_904325.2:p.(Met807Ile)	NC_000001.10:g.10363664G>T	(Likely) benign	3 labs	a13cbdf9ed
18:31324147 ASXL3 CAG>C	18	31324147	31324149	CAG	C	ASXL3	c.4336_4337del	NM_030632.3	NP_085135.1:p.(Arg1446GlyfsTer3)	NC_000018.9:g.31324148_31324149del	(Likely) pathogenic	2 labs	a15e49e38b
16:88503797 ZNF469 A>G	16	88503797	88503797	A	G	ZNF469	c.9919A>G	NM_001367624.2	NP_001354553.1:p.(Thr3307Ala)	NC_000016.9:g.88503797A>G	VUS	2 labs	a16b2b105d
4:126373018 FAT4 C>T	4	126373018	126373018	C	T	FAT4	c.10853C>T	NM_001291303.3	NP_001278232.1:p.(Thr3618Met)	NC_000004.11:g.126373018C>T	(Likely) benign	2 labs	a17a952bb8
2:47705600 MSH2 A>G	2	47705600	47705600	A	G	MSH2	c.2400A>G	NM_000251.3	NP_000242.1:p.(Leu800=)	NC_000002.11:g.47705600A>G	(Likely) benign	2 labs	a17b35c999
10:53564427 PRKG1 C>T	10	53564427	53564427	C	T	PRKG1	c.630C>T	NM_001098512.3	NP_001091982.1:p.(Thr210=)	NC_000010.10:g.53564427C>T	(Likely) benign	2 labs	a1848970de
2:238253332 COL6A3 G>A	2	238253332	238253332	G	A	COL6A3	c.7329C>T	NM_004369.4	NP_004360.2:p.(Ala2443=)	NC_000002.11:g.238253332G>A	(Likely) benign	3 labs	a18636ddc9
X:70601663 TAF1 A>G	X	70601663	70601663	A	G	TAF1	c.1431A>G	NM_001286074.2	NP_001273003.2:p.(Val477=)	NC_000023.10:g.70601663A>G	(Likely) benign	2 labs	a18f0db88a
10:100177309 HPS1 G>A	10	100177309	100177309	G	A	HPS1	c.*12C>T	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100177309G>A	(Likely) benign	2 labs	a199cf1102
9:2717997 KCNV2 C>G	9	2717997	2717997	C	G	KCNV2	c.258C>G	NM_133497.4	NP_598004.1:p.(Pro86=)	NC_000009.11:g.2717997C>G	(Likely) benign	2 labs	a19eef7c58
12:102025926 MYBPC1 C>G	12	102025926	102025926	C	G	MYBPC1	c.556+10C>G	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102025926C>G	(Likely) benign	2 labs	a1a09d12ad
6:152605135 SYNE1 G>A	6	152605135	152605135	G	A	SYNE1	c.18185C>T	NM_182961.4	NP_892006.3:p.(Ser6062Leu)	NC_000006.11:g.152605135G>A	(Likely) benign	4 labs	a1b63ef63e
2:47604176 EPCAM C>T	2	47604176	47604176	C	T	EPCAM	c.515C>T	NM_002354.3	NP_002345.2:p.(Thr172Met)	NC_000002.11:g.47604176C>T	(Likely) benign	3 labs	a1c4dc62c4
1:237814783 RYR2 C>T	1	237814783	237814783	C	T	RYR2	c.7806C>T	NM_001035.3	NP_001026.2:p.(His2602=)	NC_000001.10:g.237814783C>T	(Likely) benign	2 labs	a1d51758b6
11:63400483 ATL3 G>A	11	63400483	63400483	G	A	ATL3	c.1107+15C>T	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63400483G>A	(Likely) benign	2 labs	a1d2f661ab
10:75830527 VCL G>A	10	75830527	75830527	G	A	VCL	c.339G>A	NM_014000.3	NP_054706.1:p.(Arg113=)	NC_000010.10:g.75830527G>A	(Likely) benign	3 labs	a1e0354e5a
2:179587130 TTN C>G	2	179587130	179587130	C	G	TTN	c.22384G>C	NM_001267550.2	NP_001254479.2:p.(Asp7462His)	NC_000002.11:g.179587130C>G	(Likely) benign	2 labs	a1e453e78f
1:237580357 RYR2 A>G	1	237580357	237580357	A	G	RYR2	c.782A>G	NM_001035.3	NP_001026.2:p.(His261Arg)	NC_000001.10:g.237580357A>G	VUS	2 labs	a1ea087cef
X:153220358 HCFC1 G>A	X	153220358	153220358	G	A	HCFC1	c.3492C>T	NM_005334.3	NP_005325.2:p.(Ser1164=)	NC_000023.10:g.153220358G>A	(Likely) benign	3 labs	a1f31b1daa
17:73826673 UNC13D G>A	17	73826673	73826673	G	A	UNC13D	c.2695C>T	NM_199242.3	NP_954712.1:p.(Arg899Ter)	NC_000017.10:g.73826673G>A	(Likely) pathogenic	4 labs	a1ff477dfc
8:42179427 IKBKB A>C	8	42179427	42179427	A	C	IKBKB	c.1702A>C	NM_001556.3	NP_001547.1:p.(Arg568=)	NC_000008.10:g.42179427A>C	(Likely) benign	4 labs	a200e09ed0
X:132887881 GPC3 G>A	X	132887881	132887881	G	A	GPC3	c.660C>T	NM_004484.4	NP_004475.1:p.(Ser220=)	NC_000023.10:g.132887881G>A	(Likely) benign	3 labs	a207484c19
7:128492639 FLNC C>G	7	128492639	128492639	C	G	FLNC	c.5843-6C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492639C>G	(Likely) benign	2 labs	a20ce5ea10
11:68191161 LRP5 C>G	11	68191161	68191161	C	G	LRP5	c.3232C>G	NM_002335.4	NP_002326.2:p.(Arg1078Gly)	NC_000011.9:g.68191161C>G	VUS	2 labs	a21045f2b9
3:53814136 CACNA1D T>C	3	53814136	53814136	T	C	CACNA1D	c.4731T>C	NM_000720.4	NP_000711.1:p.(Ala1577=)	NC_000003.11:g.53814136T>C	(Likely) benign	2 labs	a22f48cab8
2:152448563 NEB A>G	2	152448563	152448563	A	G	NEB	c.14811T>C	NM_001271208.2	NP_001258137.2:p.(Ala4937=)	NC_000002.11:g.152448563A>G	(Likely) benign	2 labs	a23b813495
X:153219691 HCFC1 C>T	X	153219691	153219691	C	T	HCFC1	c.4159G>A	NM_005334.3	NP_005325.2:p.(Val1387Met)	NC_000023.10:g.153219691C>T	(Likely) benign	3 labs	a23d57eb2d
16:88788060 PIEZO1 G>A	16	88788060	88788060	G	A	PIEZO1	c.5289C>T	NM_001142864.4	NP_001136336.2:p.(Tyr1763=)	NC_000016.9:g.88788060G>A	(Likely) benign	2 labs	a23e286dd4
2:121742043 GLI2 C>G	2	121742043	121742043	C	G	GLI2	c.1684-4C>G	NM_001371271.1	NP_001358200.1:p.?	NC_000002.11:g.121742043C>G	(Likely) benign	3 labs	a249987b18
14:88407875 GALC T>A	14	88407875	88407875	T	A	GALC	c.1698A>T	NM_000153.4	NP_000144.2:p.(Val566=)	NC_000014.8:g.88407875T>A	(Likely) benign	2 labs	a2513839d6
2:215657182 BARD1 T>TA	2	215657182	215657198	T	TA	BARD1	c.216-14dup	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657198dup	(Likely) benign	2 labs	a251f34b04
15:48725102 FBN1 C>T	15	48725102	48725102	C	T	FBN1	c.6700G>A	NM_000138.5	NP_000129.3:p.(Val2234Met)	NC_000015.9:g.48725102C>T	(Likely) benign	3 labs	a255ea098c
17:1657516 SERPINF2 G>A	17	1657516	1657516	G	A	SERPINF2	c.1164G>A	NM_000934.4	NP_000925.2:p.(Glu388=)	NC_000017.10:g.1657516G>A	(Likely) benign	2 labs	a25a197cf4
16:2127620 TSC2 C>T	16	2127620	2127620	C	T	TSC2	c.2859C>T	NM_000548.5	NP_000539.2:p.(Pro953=)	NC_000016.9:g.2127620C>T	(Likely) benign	2 labs	a26006d001
19:50770231 MYH14 G>A	19	50770231	50770231	G	A	MYH14	c.2792G>A	NM_001145809.2	NP_001139281.1:p.(Arg931His)	NC_000019.9:g.50770231G>A	(Likely) benign	2 labs	a260b275dd
2:179505366 TTN T>A	2	179505366	179505366	T	A	TTN	c.40634-9A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179505366T>A	(Likely) benign	2 labs	a287bc0aee
2:62066572 FAM161A G>A	2	62066572	62066572	G	A	FAM161A	c.1567C>T	NM_001201543.2	NP_001188472.1:p.(Arg523Ter)	NC_000002.11:g.62066572G>A	(Likely) pathogenic	3 labs	a2923b39a2
11:65320463 LTBP3 G>A	11	65320463	65320463	G	A	LTBP3	c.1064-10C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65320463G>A	(Likely) benign	3 labs	a2969f7eb3
2:241686737 KIF1A G>A	2	241686737	241686737	G	A	KIF1A	c.2979C>T	NM_001244008.2	NP_001230937.1:p.(Ala993=)	NC_000002.11:g.241686737G>A	(Likely) benign	2 labs	a29d8c0421
5:140057022 HARS1 C>T	5	140057022	140057022	C	T	HARS1	c.670-17G>A	NM_001258041.3	NP_001244970.1:p.?	NC_000005.9:g.140057022C>T	(Likely) benign	2 labs	a2a81b7b36
11:75480108 DGAT2 G>A	11	75480108	75480108	G	A	DGAT2	c.72G>A	NM_032564.5	NP_115953.2:p.(Gln24=)	NC_000011.9:g.75480108G>A	(Likely) benign	2 labs	a2b692c3ba
2:189898826 COL5A2 G>A	2	189898826	189898826	G	A	COL5A2	c.4470C>T	NM_000393.5	NP_000384.2:p.(Gly1490=)	NC_000002.11:g.189898826G>A	(Likely) benign	2 labs	a2baad2bc1
11:108117812 ATM CAAAG>C	11	108117812	108117819	CAAAG	C	ATM	c.1027_1030del	NM_000051.4	NP_000042.3:p.(Glu343IlefsTer2)	NC_000011.9:g.108117816_108117819del	(Likely) pathogenic	3 labs	a2bde193fe
X:72433774 NAP1L2 C>T	X	72433774	72433774	C	T	NAP1L2	c.555G>A	NM_021963.4	NP_068798.1:p.(Met185Ile)	NC_000023.10:g.72433774C>T	(Likely) benign	2 labs	a2be486038
15:85382307 ALPK3 G>A	15	85382307	85382307	G	A	ALPK3	c.401G>A	NM_020778.5	NP_065829.4:p.(Arg134His)	NC_000015.9:g.85382307G>A	(Likely) benign	4 labs	a2cc5d331f
2:73680112 ALMS1 A>G	2	73680112	73680112	A	G	ALMS1	c.6461A>G	NM_015120.4	NP_055935.4:p.(Gln2154Arg)	NC_000002.11:g.73680112A>G	(Likely) benign	3 labs	a2d3b83eb0
13:32971069 BRCA2 A>AG	13	32971069	32971070	A	AG	BRCA2	c.9537dup	NM_000059.4	NP_000050.3:p.(Leu3180AlafsTer9)	NC_000013.10:g.32971070dup	(Likely) pathogenic	3 labs	a2e4f4943b
6:56479215 DST T>A	6	56479215	56479215	T	A	DST	c.4898A>T	NM_001144769.5	NP_001138241.1:p.(Asn1633Ile)	NC_000006.11:g.56479215T>A	(Likely) benign	3 labs	a2f798a6f7
X:118603706 SLC25A5 A>AG	X	118603706	118603709	A	AG	SLC25A5	c.197dup	NM_001152.5	NP_001143.2:p.(Val67SerfsTer8)	NC_000023.10:g.118603709dup	(Likely) benign	2 labs	a31bea1d3c
7:103205779 RELN G>A	7	103205779	103205779	G	A	RELN	c.5156C>T	NM_005045.4	NP_005036.2:p.(Ser1719Leu)	NC_000007.13:g.103205779G>A	(Likely) benign	3 labs	a3260fce24
9:137591855 COL5A1 G>T	9	137591855	137591855	G	T	COL5A1	c.378G>T	NM_000093.5	NP_000084.3:p.(Gln126His)	NC_000009.11:g.137591855G>T	(Likely) benign	2 labs	a32770c376
11:46900530 LRP4 T>C	11	46900530	46900530	T	C	LRP4	c.3064A>G	NM_002334.4	NP_002325.2:p.(Asn1022Asp)	NC_000011.9:g.46900530T>C	(Likely) benign	3 labs	a32bee0dfc
7:33397365 BBS9 G>A	7	33397365	33397365	G	A	BBS9	c.1553-102G>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33397365G>A	(Likely) benign	2 labs	a32c04bb59
15:65917906 SLC24A1 C>T	15	65917906	65917906	C	T	SLC24A1	c.1488C>T	NM_004727.3	NP_004718.1:p.(Gly496=)	NC_000015.9:g.65917906C>T	(Likely) benign	2 labs	a32ca8a93c
8:100479712 VPS13B A>G	8	100479712	100479712	A	G	VPS13B	c.3516A>G	NM_017890.5	NP_060360.3:p.(Thr1172=)	NC_000008.10:g.100479712A>G	(Likely) benign	2 labs	a32d776ea8
9:2039776 SMARCA2 ACAGCAG>A	9	2039776	2039817	ACAGCAG	A	SMARCA2	c.702_707del	NM_003070.5	NP_003061.3:p.(Gln237_Gln238del)	NC_000009.11:g.2039812_2039817del	(Likely) benign	3 labs	a325234f01
9:34372252 MYORG T>C	9	34372252	34372252	T	C	MYORG	c.690A>G	NM_020702.5	NP_065753.2:p.(Leu230=)	NC_000009.11:g.34372252T>C	(Likely) benign	2 labs	a337ebde7f
19:55663295 TNNI3 G>A	19	55663295	55663295	G	A	TNNI3	c.550-10C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55663295G>A	(Likely) benign	3 labs	a339c22f47
3:3189778 TRNT1 G>GA	3	3189778	3189785	G	GA	TRNT1	c.1252dup	NM_001367321.1	NP_001354250.1:p.(Ser418LysfsTer9)	NC_000003.11:g.3189785dup	(Likely) pathogenic	2 labs	a34c75c64f
22:50902839 SBF1 A>G	22	50902839	50902839	A	G	SBF1	c.1668T>C	NM_002972.4	NP_002963.2:p.(His556=)	NC_000022.10:g.50902839A>G	(Likely) benign	2 labs	a35088a5f0
8:100182333 VPS13B G>C	8	100182333	100182333	G	C	VPS13B	c.2275G>C	NM_017890.5	NP_060360.3:p.(Val759Leu)	NC_000008.10:g.100182333G>C	(Likely) benign	3 labs	a35298dfef
4:88533540 DSPP A>T	4	88533540	88533540	A	T	DSPP	c.202A>T	NM_014208.3	NP_055023.2:p.(Arg68Trp)	NC_000004.11:g.88533540A>T	(Likely) benign	2 labs	a352b49876
15:27018841 GABRB3 G>A	15	27018841	27018841	G	A	GABRB3	c.31C>T	NM_021912.5	NP_068712.1:p.(Pro11Ser)	NC_000015.9:g.27018841G>A	(Likely) benign	4 labs	a3548fc141
19:50119139 PRR12 G>A	19	50119139	50119139	G	A	PRR12	c.5160G>A	NM_020719.3	NP_065770.1:p.(Glu1720=)	NC_000019.9:g.50119139G>A	(Likely) benign	2 labs	a355a3239e
14:102514296 DYNC1H1 C>T	14	102514296	102514296	C	T	DYNC1H1	c.13149C>T	NM_001376.5	NP_001367.2:p.(Thr4383=)	NC_000014.8:g.102514296C>T	(Likely) benign	2 labs	a3598a1f56
3:71021818 FOXP1 G>A	3	71021818	71021818	G	A	FOXP1	c.1537C>T	NM_001244808.3	NP_001231737.1:p.(Arg513Cys)	NC_000003.11:g.71021818G>A	(Likely) pathogenic	2 labs	a35f0a40af
9:4117933 GLIS3 C>G	9	4117933	4117933	C	G	GLIS3	c.1545G>C	NM_001042413.2	NP_001035878.1:p.(Glu515Asp)	NC_000009.11:g.4117933C>G	(Likely) benign	3 labs	a3607d6e44
9:35794057 NPR2 A>G	9	35794057	35794057	A	G	NPR2	c.830A>G	NM_003995.4	NP_003986.2:p.(Asn277Ser)	NC_000009.11:g.35794057A>G	VUS	2 labs	a3610f2eb6
15:55731780 DNAAF4 C>T	15	55731780	55731780	C	T	DNAAF4	c.784-1G>A	NM_130810.4	NP_570722.2:p.?	NC_000015.9:g.55731780C>T	(Likely) pathogenic	2 labs	a36a18a510
2:15615856 NBAS T>C	2	15615856	15615856	T	C	NBAS	c.1296A>G	NM_015909.4	NP_056993.2:p.(Ser432=)	NC_000002.11:g.15615856T>C	(Likely) benign	2 labs	a3782b5732
11:2594153 KCNQ1 C>T	11	2594153	2594153	C	T	KCNQ1	c.858C>T	NM_000218.3	NP_000209.2:p.(Asp286=)	NC_000011.9:g.2594153C>T	(Likely) benign	2 labs	a396c39457
19:15291576 NOTCH3 C>G	19	15291576	15291576	C	G	NOTCH3	c.3058G>C	NM_000435.3	NP_000426.2:p.(Ala1020Pro)	NC_000019.9:g.15291576C>G	(Likely) benign	3 labs	a39ebfe28d
1:196716372 CFH T>A	1	196716372	196716372	T	A	CFH	c.3625T>A	NM_000186.4	NP_000177.2:p.(Ser1209Thr)	NC_000001.10:g.196716372T>A	(Likely) benign	2 labs	a3afd330f0
9:136223221 SURF1 GCCCCGCACCCCGCACCCCGCA>G	9	136223221	136223266	GCCCCGCACCCCGCACCCCGCA	G	SURF1	c.54+34_55-47del	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136223246_136223266del	(Likely) benign	2 labs	a3c72010ea
X:84510654 ZNF711 A>G	X	84510654	84510654	A	G	ZNF711	c.469A>G	NM_001330574.2	NP_001317503.1:p.(Met157Val)	NC_000023.10:g.84510654A>G	(Likely) benign	2 labs	a3cd5c721d
9:139399812 NOTCH1 G>A	9	139399812	139399812	G	A	NOTCH1	c.4536C>T	NM_017617.5	NP_060087.3:p.(Ala1512=)	NC_000009.11:g.139399812G>A	(Likely) benign	3 labs	a3d4ffec22
1:237955407 RYR2 C>T	1	237955407	237955407	C	T	RYR2	c.13566C>T	NM_001035.3	NP_001026.2:p.(Val4522=)	NC_000001.10:g.237955407C>T	(Likely) benign	3 labs	a3d958b8d0
3:128205845 GATA2 C>A	3	128205845	128205845	C	A	GATA2	c.30G>T	NM_032638.5	NP_116027.2:p.(Trp10Cys)	NC_000003.11:g.128205845C>A	VUS	3 labs	a3dbef50fd
3:38802155 SCN10A A>G	3	38802155	38802155	A	G	SCN10A	c.950+17T>C	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38802155A>G	(Likely) benign	3 labs	a3e02bcc8d
8:10466757 RP1L1 C>G	8	10466757	10466757	C	G	RP1L1	c.4851G>C	NM_178857.6	NP_849188.4:p.(Ser1617=)	NC_000008.10:g.10466757C>G	(Likely) benign	2 labs	a3f34f7520
12:124349236 DNAH10 G>C	12	124349236	124349236	G	C	DNAH10	c.6649G>C	NM_207437.3	NP_997320.2:p.(Glu2217Gln)	NC_000012.11:g.124349236G>C	(Likely) benign	2 labs	a3f4d15e50
2:179613264 TTN C>T	2	179613264	179613264	C	T	TTN	c.13863G>A	NM_133379.5	NP_596870.2:p.(Met4621Ile)	NC_000002.11:g.179613264C>T	(Likely) benign	2 labs	a3fc7717af
10:112572069 RBM20 G>A	10	112572069	112572069	G	A	RBM20	c.1914G>A	NM_001134363.3	NP_001127835.2:p.(Pro638=)	NC_000010.10:g.112572069G>A	(Likely) benign	3 labs	a400c272f2
9:131285955 GLE1 A>G	9	131285955	131285955	A	G	GLE1	c.727A>G	NM_001003722.2	NP_001003722.1:p.(Ile243Val)	NC_000009.11:g.131285955A>G	(Likely) benign	3 labs	a401c3bd61
21:44482416 CBS C>G	21	44482416	44482416	C	G	CBS	c.724+5G>C	NM_001321072.1	NP_001308001.1:p.?	NC_000021.8:g.44482416C>G	(Likely) pathogenic	2 labs	a40224a305
19:35524462 SCN1B C>T	19	35524462	35524462	C	T	SCN1B	c.267C>T	NM_001037.5	NP_001028.1:p.(Arg89=)	NC_000019.9:g.35524462C>T	(Likely) benign	2 labs	a40c1ce72a
2:74154041 DGUOK G>T	2	74154041	74154041	G	T	DGUOK	c.4G>T	NM_080916.3	NP_550438.1:p.(Ala2Ser)	NC_000002.11:g.74154041G>T	VUS	3 labs	a41871af4a
13:52516531 ATP7B CG>C	13	52516531	52516534	CG	C	ATP7B	c.3402del	NM_000053.4	NP_000044.2:p.(Ala1135GlnfsTer13)	NC_000013.10:g.52516534del	(Likely) pathogenic	2 labs	a4149e3b5f
2:99013496 CNGA3 G>A	2	99013496	99013496	G	A	CNGA3	c.1863G>A	NM_001298.3	NP_001289.1:p.(Ala621=)	NC_000002.11:g.99013496G>A	(Likely) benign	2 labs	a41d430854
11:76916624 MYO7A C>T	11	76916624	76916624	C	T	MYO7A	c.5598C>T	NM_000260.4	NP_000251.3:p.(Leu1866=)	NC_000011.9:g.76916624C>T	(Likely) benign	2 labs	a4224a8361
21:47786702 PCNT A>AG	21	47786702	47786707	A	AG	PCNT	c.2818dup	NM_006031.6	NP_006022.3:p.(Ala940GlyfsTer30)	NC_000021.8:g.47786707dup	(Likely) pathogenic	2 labs	a41bc5499f
15:90171683 KIF7 C>G	15	90171683	90171683	C	G	KIF7	c.3999G>C	NM_198525.3	NP_940927.2:p.(Pro1333=)	NC_000015.9:g.90171683C>G	(Likely) benign	3 labs	a42d6cfe16
2:179480173 TTN G>A	2	179480173	179480173	G	A	TTN	c.48499C>T	NM_001267550.2	NP_001254479.2:p.(Arg16167Ter)	NC_000002.11:g.179480173G>A	(Likely) pathogenic	2 labs	a42f702e71
6:135732639 AHI1 T>C	6	135732639	135732639	T	C	AHI1	c.2808A>G	NM_001134831.2	NP_001128303.1:p.(Thr936=)	NC_000006.11:g.135732639T>C	(Likely) benign	3 labs	a437d3e625
7:128484099 FLNC C>T	7	128484099	128484099	C	T	FLNC	c.2971C>T	NM_001458.5	NP_001449.3:p.(Arg991Ter)	NC_000007.13:g.128484099C>T	(Likely) pathogenic	2 labs	a44aae8d41
1:94568675 ABCA4 T>C	1	94568675	94568675	T	C	ABCA4	c.466A>G	NM_000350.3	NP_000341.2:p.(Ile156Val)	NC_000001.10:g.94568675T>C	(Likely) benign	3 labs	a45a8736fa
13:103515267 ERCC5 G>A	13	103515267	103515267	G	A	ERCC5	c.1768G>A	NM_000123.4	NP_000114.3:p.(Val590Ile)	NC_000013.10:g.103515267G>A	(Likely) benign	2 labs	a45e95b69e
5:176638730 NSD1 C>T	5	176638730	176638730	C	T	NSD1	c.3330C>T	NM_022455.5	NP_071900.2:p.(Phe1110=)	NC_000005.9:g.176638730C>T	(Likely) benign	3 labs	a461b86e41
22:29091162 CHEK2 C>T	22	29091162	29091162	C	T	CHEK2	c.1328G>A	NM_007194.4	NP_009125.1:p.(Gly443Glu)	NC_000022.10:g.29091162C>T	VUS	2 labs	a463da0cbd
1:216595238 USH2A T>A	1	216595238	216595238	T	A	USH2A	c.441A>T	NM_206933.4	NP_996816.3:p.(Ser147=)	NC_000001.10:g.216595238T>A	(Likely) benign	2 labs	a46995af8e
22:32889277 FBXO7 C>T	22	32889277	32889277	C	T	FBXO7	c.1144+9C>T	NM_012179.4	NP_036311.3:p.?	NC_000022.10:g.32889277C>T	(Likely) benign	2 labs	a46f87b3e4
14:23871743 MYH6 G>A	14	23871743	23871743	G	A	MYH6	c.1071C>T	NM_002471.4	NP_002462.2:p.(Ile357=)	NC_000014.8:g.23871743G>A	(Likely) benign	2 labs	a472e8c40e
11:85347169 TMEM126B A>G	11	85347169	85347169	A	G	TMEM126B	c.499A>G	NM_001193538.3	NP_001180467.1:p.(Met167Val)	NC_000011.9:g.85347169A>G	VUS	3 labs	a47ceb15ef
9:97897766 FANCC G>A	9	97897766	97897766	G	A	FANCC	c.705C>T	NM_000136.3	NP_000127.2:p.(Pro235=)	NC_000009.11:g.97897766G>A	(Likely) benign	2 labs	a4812aefc5
3:129249837 RHO C>A	3	129249837	129249837	C	A	RHO	c.480C>A	NM_000539.3	NP_000530.1:p.(Thr160=)	NC_000003.11:g.129249837C>A	(Likely) benign	2 labs	a4846155d4
7:75932207 HSPB1 C>T	7	75932207	75932207	C	T	HSPB1	c.178C>T	NM_001540.5	NP_001531.1:p.(Pro60Ser)	NC_000007.13:g.75932207C>T	(Likely) benign	2 labs	a487170024
14:102431074 DYNC1H1 T>C	14	102431074	102431074	T	C	DYNC1H1	c.46T>C	NM_001376.5	NP_001367.2:p.(Leu16=)	NC_000014.8:g.102431074T>C	(Likely) benign	2 labs	a48ac586b7
1:215848436 USH2A A>G	1	215848436	215848436	A	G	USH2A	c.12817T>C	NM_206933.4	NP_996816.3:p.(Tyr4273His)	NC_000001.10:g.215848436A>G	(Likely) benign	2 labs	a48db479ab
15:73615897 HCN4 G>A	15	73615897	73615897	G	A	HCN4	c.2537C>T	NM_005477.3	NP_005468.1:p.(Pro846Leu)	NC_000015.9:g.73615897G>A	VUS	2 labs	a4a7973d35
19:7534013 ARHGEF18 C>T	19	7534013	7534013	C	T	ARHGEF18	c.3783C>T	NM_001367823.1	NP_001354752.1:p.(Ser1261=)	NC_000019.9:g.7534013C>T	(Likely) benign	2 labs	a4a741b987
5:90041458 ADGRV1 T>C	5	90041458	90041458	T	C	ADGRV1	c.10820T>C	NM_032119.4	NP_115495.3:p.(Val3607Ala)	NC_000005.9:g.90041458T>C	VUS	2 labs	a4ac6d0a03
5:127622403 FBN2 C>T	5	127622403	127622403	C	T	FBN2	c.7012+7G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127622403C>T	(Likely) benign	5 labs	a4ae22a933
10:75868824 VCL C>T	10	75868824	75868824	C	T	VCL	c.2655C>T	NM_003373.4	NP_003364.1:p.(Phe885=)	NC_000010.10:g.75868824C>T	(Likely) benign	2 labs	a4c00c4d89
11:68707196 IGHMBP2 G>A	11	68707196	68707196	G	A	IGHMBP2	c.2979G>A	NM_002180.3	NP_002171.2:p.(Thr993=)	NC_000011.9:g.68707196G>A	(Likely) benign	2 labs	a4c30d6e98
19:11218108 LDLR C>T	19	11218108	11218108	C	T	LDLR	c.858C>T	NM_000527.5	NP_000518.1:p.(Ser286=)	NC_000019.9:g.11218108C>T	(Likely) benign	2 labs	a4c7da796f
17:10542639 MYH3 G>A	17	10542639	10542639	G	A	MYH3	c.3078C>T	NM_002470.4	NP_002461.2:p.(Ser1026=)	NC_000017.10:g.10542639G>A	(Likely) benign	2 labs	a4d88dc5d2
14:102916165 TECPR2 C>T	14	102916165	102916165	C	T	TECPR2	c.3275C>T	NM_014844.5	NP_055659.2:p.(Ser1092Leu)	NC_000014.8:g.102916165C>T	(Likely) benign	2 labs	a4dac4a922
15:73028295 BBS4 A>T	15	73028295	73028295	A	T	BBS4	c.1236A>T	NM_033028.5	NP_149017.2:p.(Glu412Asp)	NC_000015.9:g.73028295A>T	(Likely) benign	3 labs	a4dfc64d5b
5:178413722 GRM6 G>A	5	178413722	178413722	G	A	GRM6	c.1533C>T	NM_000843.4	NP_000834.2:p.(His511=)	NC_000005.9:g.178413722G>A	(Likely) benign	2 labs	a4f5a365ba
7:16348262 CRPPA A>AAAC	7	16348262	16348279	A	AAAC	CRPPA	c.685-13_685-11dup	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16348277_16348279dup	(Likely) benign	3 labs	a506205db5
2:44104728 ABCG8 C>T	2	44104728	44104728	C	T	ABCG8	c.1785C>T	NM_022437.3	NP_071882.1:p.(Phe595=)	NC_000002.11:g.44104728C>T	(Likely) benign	2 labs	a5067c7a92
7:128498280 FLNC C>T	7	128498280	128498280	C	T	FLNC	c.7990+9C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498280C>T	(Likely) benign	4 labs	a50be4beff
11:76910750 MYO7A A>G	11	76910750	76910750	A	G	MYO7A	c.4739A>G	NM_000260.4	NP_000251.3:p.(Tyr1580Cys)	NC_000011.9:g.76910750A>G	VUS	4 labs	a50f20096b
8:145740707 RECQL4 C>T	8	145740707	145740707	C	T	RECQL4	c.1390+3G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145740707C>T	(Likely) benign	4 labs	a510ccc966
19:47259529 FKRP C>G	19	47259529	47259529	C	G	FKRP	c.822C>G	NM_001039885.3	NP_001034974.1:p.(Ile274Met)	NC_000019.9:g.47259529C>G	(Likely) benign	2 labs	a516686b58
16:8941651 PMM2 C>G	16	8941651	8941651	C	G	PMM2	c.710C>G	NM_000303.3	NP_000294.1:p.(Thr237Arg)	NC_000016.9:g.8941651C>G	(Likely) pathogenic	2 labs	a51c7d3fcd
19:36398622 TYROBP C>G	19	36398622	36398622	C	G	TYROBP	c.94+10G>C	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36398622C>G	(Likely) benign	3 labs	a51dff8001
10:55582769 PCDH15 G>C	10	55582769	55582769	G	C	PCDH15	c.4738C>G	NM_001142763.2	NP_001136235.1:p.(Leu1580Val)	NC_000010.10:g.55582769G>C	(Likely) benign	2 labs	a51e075d70
15:85403105 ALPK3 C>A	15	85403105	85403105	C	A	ALPK3	c.4064C>A	NM_020778.5	NP_065829.4:p.(Ala1355Asp)	NC_000015.9:g.85403105C>A	(Likely) benign	4 labs	a523fd732d
5:148407945 SH3TC2 C>T	5	148407945	148407945	C	T	SH3TC2	c.1350G>A	NM_024577.4	NP_078853.2:p.(Pro450=)	NC_000005.9:g.148407945C>T	(Likely) benign	2 labs	a52cfd34ed
3:52439282 BAP1 G>A	3	52439282	52439282	G	A	BAP1	c.960C>T	NM_004656.4	NP_004647.1:p.(Cys320=)	NC_000003.11:g.52439282G>A	(Likely) benign	2 labs	a54a9265e8
7:154002240 DPP6 C>T	7	154002240	154002240	C	T	DPP6	c.52-141059C>T	NM_001039350.3	NP_001034439.1:p.?	NC_000007.13:g.154002240C>T	(Likely) pathogenic	4 labs	a556a85c22
2:179589083 TTN T>A	2	179589083	179589083	T	A	TTN	c.21019A>T	NM_001267550.2	NP_001254479.2:p.(Ile7007Phe)	NC_000002.11:g.179589083T>A	(Likely) benign	5 labs	a55ab9d820
7:128486226 FLNC C>T	7	128486226	128486226	C	T	FLNC	c.3964+9C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486226C>T	(Likely) benign	3 labs	a55d6f58b5
5:86564564 RASA1 C>T	5	86564564	86564564	C	T	RASA1	c.296C>T	NM_002890.3	NP_002881.1:p.(Ala99Val)	NC_000005.9:g.86564564C>T	(Likely) benign	2 labs	a56325d6a2
18:21136522 NPC1 C>A	18	21136522	21136522	C	A	NPC1	c.1011G>T	NM_000271.5	NP_000262.2:p.(Arg337=)	NC_000018.9:g.21136522C>A	(Likely) benign	2 labs	a5685d08e0
3:46902253 MYL3 C>T	3	46902253	46902253	C	T	MYL3	c.220G>A	NM_000258.3	NP_000249.1:p.(Gly74Arg)	NC_000003.11:g.46902253C>T	VUS	4 labs	a5745ec321
7:42079825 GLI3 G>C	7	42079825	42079825	G	C	GLI3	c.840C>G	NM_000168.6	NP_000159.3:p.(Ser280=)	NC_000007.13:g.42079825G>C	(Likely) benign	2 labs	a56f381e89
11:124739422 ROBO3 G>GC	11	124739422	124739429	G	GC	ROBO3	c.571dup	NM_022370.4	NP_071765.2:p.(Arg191ProfsTer61)	NC_000011.9:g.124739429dup	(Likely) pathogenic	2 labs	a57000bb1b
15:48729237 FBN1 A>G	15	48729237	48729237	A	G	FBN1	c.6417T>C	NM_000138.5	NP_000129.3:p.(His2139=)	NC_000015.9:g.48729237A>G	(Likely) benign	2 labs	a5748adbee
9:98209213 PTCH1 C>T	9	98209213	98209213	C	T	PTCH1	c.4325G>A	NM_000264.5	NP_000255.2:p.(Arg1442Gln)	NC_000009.11:g.98209213C>T	(Likely) benign	4 labs	a585e6d422
9:135773000 TSC1 G>GAA	9	135773000	135773018	G	GAA	TSC1	c.2626-5_2626-4dup	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773017_135773018dup	(Likely) benign	3 labs	a5a4037c05
13:23914886 SACS T>C	13	23914886	23914886	T	C	SACS	c.3129A>G	NM_014363.6	NP_055178.3:p.(Ser1043=)	NC_000013.10:g.23914886T>C	(Likely) benign	4 labs	a5aeadd4f9
3:123458823 MYLK C>A	3	123458823	123458823	C	A	MYLK	c.399G>T	NM_053025.4	NP_444253.3:p.(Gln133His)	NC_000003.11:g.123458823C>A	(Likely) benign	3 labs	a5af27f031
15:90173734 KIF7 C>CAG	15	90173734	90173735	C	CAG	KIF7	c.3112-11_3112-10insCT	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90173734_90173735insAG	(Likely) benign	2 labs	a5b03691fd
10:18439808 CACNB2 T>TG	10	18439808	18439809	T	TG	CACNB2	c.37-4_37-3insG	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439808_18439809insG	(Likely) benign	3 labs	a5b067aab2
17:73517777 TSEN54 G>A	17	73517777	73517777	G	A	TSEN54	c.624-9G>A	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73517777G>A	(Likely) benign	2 labs	a5b2ba9f88
18:53131210 TCF4 A>T	18	53131210	53131210	A	T	TCF4	c.207+97T>A	NM_001243228.2	NP_001230157.1:p.?	NC_000018.9:g.53131210A>T	(Likely) benign	2 labs	a5bb1ea40e
6:80636102 ELOVL4 T>C	6	80636102	80636102	T	C	ELOVL4	c.101-4A>G	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80636102T>C	(Likely) benign	2 labs	a5bd22f773
11:47373032 MYBPC3 C>T	11	47373032	47373032	C	T	MYBPC3	c.50G>A	NM_000256.3	NP_000247.2:p.(Arg17Gln)	NC_000011.9:g.47373032C>T	VUS	2 labs	a5cb0a751d
5:112151168 APC A>T	5	112151168	112151168	A	T	APC	c.835-24A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112151168A>T	(Likely) benign	3 labs	a5d6e942dd
2:1680774 PXDN G>A	2	1680774	1680774	G	A	PXDN	c.773C>T	NM_012293.3	NP_036425.1:p.(Thr258Ile)	NC_000002.11:g.1680774G>A	VUS	2 labs	a5d9347a88
2:179427139 TTN C>T	2	179427139	179427139	C	T	TTN	c.83720G>A	NM_001267550.2	NP_001254479.2:p.(Ser27907Asn)	NC_000002.11:g.179427139C>T	VUS	2 labs	a5dd48bc39
2:202590095 ALS2 C>T	2	202590095	202590095	C	T	ALS2	c.3331G>A	NM_020919.4	NP_065970.2:p.(Gly1111Ser)	NC_000002.11:g.202590095C>T	VUS	3 labs	a5de58ad1a
X:13764958 OFD1 T>C	X	13764958	13764958	T	C	OFD1	c.714T>C	NM_003611.3	NP_003602.1:p.(Tyr238=)	NC_000023.10:g.13764958T>C	(Likely) benign	3 labs	a5df81198d
3:129251131 RHO G>T	3	129251131	129251131	G	T	RHO	c.568G>T	NM_000539.3	NP_000530.1:p.(Asp190Tyr)	NC_000003.11:g.129251131G>T	(Likely) pathogenic	2 labs	a5e229e161
12:52310036 ACVRL1 C>T	12	52310036	52310036	C	T	ACVRL1	c.1246+19C>T	NM_000020.3	NP_000011.2:p.?	NC_000012.11:g.52310036C>T	(Likely) benign	2 labs	a5e34eee2a
7:91694743 AKAP9 A>G	7	91694743	91694743	A	G	AKAP9	c.6176A>G	NM_005751.5	NP_005742.4:p.(Glu2059Gly)	NC_000007.13:g.91694743A>G	(Likely) benign	3 labs	a5e7b5d636
15:63356340 TPM1 A>G	15	63356340	63356340	A	G	TPM1	c.850A>G	NM_000366.6	NP_000357.3:p.(Met284Val)	NC_000015.9:g.63356340A>G	VUS	2 labs	a5e9ee9680
5:180030313 FLT4 C>G	5	180030313	180030313	C	G	FLT4	c.3971G>C	NM_182925.5	NP_891555.2:p.(Arg1324Pro)	NC_000005.9:g.180030313C>G	(Likely) benign	3 labs	a5ee7a09d5
18:7036022 LAMA1 G>A	18	7036022	7036022	G	A	LAMA1	c.1803C>T	NM_005559.4	NP_005550.2:p.(Asp601=)	NC_000018.9:g.7036022G>A	(Likely) benign	2 labs	a5f1bdfb3b
X:119603016 LAMP2 G>A	X	119603016	119603016	G	A	LAMP2	c.9C>T	NM_002294.3	NP_002285.1:p.(Cys3=)	NC_000023.10:g.119603016G>A	(Likely) benign	2 labs	a604d459d8
2:47630331 MSH2 A>G	2	47630331	47630331	A	G	MSH2	c.-31+17A>G	NM_001258281.1	NP_001245210.1:p.?	NC_000002.11:g.47630331A>G	VUS	2 labs	a6075a69c9
4:6303911 WFS1 G>A	4	6303911	6303911	G	A	WFS1	c.2389G>A	NM_006005.3	NP_005996.2:p.(Asp797Asn)	NC_000004.11:g.6303911G>A	(Likely) pathogenic	2 labs	a6097809ad
18:19444613 MIB1 A>G	18	19444613	19444613	A	G	MIB1	c.3007A>G	NM_020774.4	NP_065825.1:p.(Ile1003Val)	NC_000018.9:g.19444613A>G	(Likely) benign	2 labs	a60dce4403
17:10543876 MYH3 T>C	17	10543876	10543876	T	C	MYH3	c.2289+4A>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543876T>C	(Likely) benign	2 labs	a61b0d220e
17:29508819 NF1 A>ATT	17	29508819	29508835	A	ATT	NF1	c.730+31_730+32dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508834_29508835dup	(Likely) benign	2 labs	a61cb5f336
10:69948903 MYPN A>C	10	69948903	69948903	A	C	MYPN	c.2925+20A>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69948903A>C	(Likely) benign	2 labs	a61e6f9d26
4:121702463 PRDM5 G>A	4	121702463	121702463	G	A	PRDM5	c.1283-5C>T	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121702463G>A	(Likely) benign	2 labs	a6228fe885
7:128481035 FLNC G>T	7	128481035	128481035	G	T	FLNC	c.1813+11G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481035G>T	(Likely) benign	3 labs	a626a4e114
6:76720940 IMPG1 A>C	6	76720940	76720940	A	C	IMPG1	c.809T>G	NM_001563.4	NP_001554.2:p.(Met270Arg)	NC_000006.11:g.76720940A>C	VUS	3 labs	a63394b473
6:135644432 AHI1 G>A	6	135644432	135644432	G	A	AHI1	c.3196C>T	NM_001350503.2	NP_001337432.1:p.(Arg1066Ter)	NC_000006.11:g.135644432G>A	VUS	2 labs	a63aaad31d
2:47635523 MSH2 C>CT	2	47635523	47635536	C	CT	MSH2	c.212-4dup	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635536dup	(Likely) benign	2 labs	a63dd9e9d4
X:3019267 ARSF G>A	X	3019267	3019267	G	A	ARSF	c.1102+5G>A	NM_001201539.2	NP_001188468.1:p.?	NC_000023.10:g.3019267G>A	(Likely) benign	2 labs	a640314c82
2:167168247 SCN9A G>A	2	167168247	167168247	G	A	SCN9A	c.20C>T	NM_002977.3	NP_002968.1:p.(Pro7Leu)	NC_000002.11:g.167168247G>A	VUS	2 labs	a64074bf8f
17:41244094 BRCA1 C>T	17	41244094	41244094	C	T	BRCA1	c.3454G>A	NM_007294.4	NP_009225.1:p.(Asp1152Asn)	NC_000017.10:g.41244094C>T	(Likely) benign	2 labs	a64fc0d366
X:47063006 UBA1 G>A	X	47063006	47063006	G	A	UBA1	c.1486G>A	NM_003334.4	NP_003325.2:p.(Glu496Lys)	NC_000023.10:g.47063006G>A	(Likely) benign	2 labs	a655814e6d
20:10644636 JAG1 C>T	20	10644636	10644636	C	T	JAG1	c.414G>A	NM_000214.3	NP_000205.1:p.(Ala138=)	NC_000020.10:g.10644636C>T	(Likely) benign	2 labs	a655c67f40
11:47367809 MYBPC3 C>T	11	47367809	47367809	C	T	MYBPC3	c.1039G>A	NM_000256.3	NP_000247.2:p.(Gly347Ser)	NC_000011.9:g.47367809C>T	VUS	2 labs	a65798e127
5:131977996 RAD50 C>T	5	131977996	131977996	C	T	RAD50	c.3879C>T	NM_005732.4	NP_005723.2:p.(Ile1293=)	NC_000005.9:g.131977996C>T	(Likely) benign	2 labs	a657de7ac3
5:37183766 CPLANE1 T>C	5	37183766	37183766	T	C	CPLANE1	c.4517A>G	NM_023073.4	NP_075561.3:p.(His1506Arg)	NC_000005.9:g.37183766T>C	(Likely) benign	4 labs	a65a151626
5:73048867 ARHGEF28 G>T	5	73048867	73048867	G	T	ARHGEF28	c.315G>T	NM_001080479.3	NP_001073948.2:p.(Thr105=)	NC_000005.9:g.73048867G>T	(Likely) benign	2 labs	a65b6a37ee
X:38182665 RPGR A>C	X	38182665	38182665	A	C	RPGR	c.141T>G	NM_001034853.2	NP_001030025.1:p.(Ser47=)	NC_000023.10:g.38182665A>C	(Likely) benign	2 labs	a66a72b892
19:47258899 FKRP C>T	19	47258899	47258899	C	T	FKRP	c.192C>T	NM_001039885.3	NP_001034974.1:p.(Pro64=)	NC_000019.9:g.47258899C>T	(Likely) benign	2 labs	a66b463b0e
17:29687711 NF1 G>A	17	29687711	29687711	G	A	NF1	c.8367G>A	NM_001042492.3	NP_001035957.1:p.(Gln2789=)	NC_000017.10:g.29687711G>A	(Likely) benign	2 labs	a66cf6bb7e
1:26387820 TRIM63 G>A	1	26387820	26387820	G	A	TRIM63	c.338C>T	NM_032588.4	NP_115977.2:p.(Pro113Leu)	NC_000001.10:g.26387820G>A	VUS	2 labs	a6743c16ac
15:66996232 SMAD6 C>T	15	66996232	66996232	C	T	SMAD6	c.636C>T	NM_005585.5	NP_005576.3:p.(Asp212=)	NC_000015.9:g.66996232C>T	(Likely) benign	2 labs	a67683ecfe
2:211527827 CPS1 GTT>G	2	211527827	211527839	GTT	G	CPS1	c.3928-9_3928-8del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211527838_211527839del	(Likely) benign	2 labs	a6793b688d
1:155209737 GBA1 G>A	1	155209737	155209737	G	A	GBA1	c.247C>T	NM_001005741.3	NP_001005741.1:p.(Arg83Cys)	NC_000001.10:g.155209737G>A	VUS	2 labs	a67b9e3157
4:47939092 CNGA1 T>C	4	47939092	47939092	T	C	CNGA1	c.1407A>G	NM_001142564.2	NP_001136036.2:p.(Thr469=)	NC_000004.11:g.47939092T>C	(Likely) benign	2 labs	a684e3f5f0
9:4118262 GLIS3 C>A	9	4118262	4118262	C	A	GLIS3	c.1216G>T	NM_001042413.2	NP_001035878.1:p.(Gly406Cys)	NC_000009.11:g.4118262C>A	(Likely) benign	2 labs	a693b1b291
13:111155711 COL4A2 C>T	13	111155711	111155711	C	T	COL4A2	c.4040-19C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111155711C>T	(Likely) benign	2 labs	a696dd1410
2:179616770 TTN GA>G	2	179616770	179616785	GA	G	TTN	c.11311+1080del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616785del	(Likely) benign	4 labs	a6a0873e90
14:23900793 MYH7 C>T	14	23900793	23900793	C	T	MYH7	c.732+1G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900793C>T	(Likely) pathogenic	2 labs	a6a6610671
3:37067093 MLH1 ATATATATT>A	3	37067093	37067102	ATATATATT	A	MLH1	c.1039-33_1039-26del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067102del	(Likely) benign	2 labs	a6aa014d0d
5:127744500 FBN2 A>C	5	127744500	127744500	A	C	FBN2	c.953-8T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127744500A>C	(Likely) benign	4 labs	a6b2665eb0
7:107341528 SLC26A4 T>A	7	107341528	107341528	T	A	SLC26A4	c.1708-18T>A	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107341528T>A	(Likely) benign	3 labs	a6bd677c71
3:49690811 BSN C>G	3	49690811	49690811	C	G	BSN	c.3822C>G	NM_003458.4	NP_003449.2:p.(Ser1274=)	NC_000003.11:g.49690811C>G	(Likely) benign	2 labs	a6be9752c2
4:39233790 WDR19 G>A	4	39233790	39233790	G	A	WDR19	c.2151G>A	NM_025132.4	NP_079408.3:p.(Glu717=)	NC_000004.11:g.39233790G>A	(Likely) benign	2 labs	a6c3f3e6ee
7:128481333 FLNC C>T	7	128481333	128481333	C	T	FLNC	c.1923C>T	NM_001458.5	NP_001449.3:p.(His641=)	NC_000007.13:g.128481333C>T	(Likely) benign	4 labs	a6c5d72163
1:40768483 COL9A2 T>TGGAG	1	40768483	40768507	T	TGGAG	COL9A2	c.1604-6_1604-3dup	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40768504_40768507dup	(Likely) benign	2 labs	a6cb4b0214
16:14042177 ERCC4 C>T	16	14042177	14042177	C	T	ERCC4	c.2724C>T	NM_005236.3	NP_005227.1:p.(Val908=)	NC_000016.9:g.14042177C>T	(Likely) benign	3 labs	a6dd9f129e
2:63609217 WDPCP C>T	2	63609217	63609217	C	T	WDPCP	c.1448G>A	NM_015910.7	NP_056994.3:p.(Arg483Gln)	NC_000002.11:g.63609217C>T	(Likely) benign	3 labs	a6e84eb743
9:35805678 NPR2 C>T	9	35805678	35805678	C	T	NPR2	c.2047+11C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35805678C>T	(Likely) benign	2 labs	a6ef6a17c7
7:128491324 FLNC C>T	7	128491324	128491324	C	T	FLNC	c.5578C>T	NM_001458.5	NP_001449.3:p.(Arg1860Cys)	NC_000007.13:g.128491324C>T	(Likely) benign	5 labs	a6ef80d8d5
2:179587496 TTN A>G	2	179587496	179587496	A	G	TTN	c.22130T>C	NM_001267550.2	NP_001254479.2:p.(Val7377Ala)	NC_000002.11:g.179587496A>G	VUS	2 labs	a6efae8d16
X:153578159 FLNA G>T	X	153578159	153578159	G	T	FLNA	c.7410C>A	NM_001110556.2	NP_001104026.1:p.(Ser2470=)	NC_000023.10:g.153578159G>T	(Likely) benign	2 labs	a6f301e870
21:35821849 KCNE1 C>T	21	35821849	35821849	C	T	KCNE1	c.84G>A	NM_000219.6	NP_000210.2:p.(Ser28=)	NC_000021.8:g.35821849C>T	(Likely) benign	4 labs	a709fefc9e
17:10439900 MYH2 TC>T	17	10439900	10439901	TC	T	MYH2	c.1920del	NM_001100112.2	NP_001093582.1:p.(Gly642ValfsTer20)	NC_000017.10:g.10439901del	(Likely) pathogenic	2 labs	a70b25360e
8:97157676 GDF6 C>A	8	97157676	97157676	C	A	GDF6	c.483G>T	NM_001001557.4	NP_001001557.1:p.(Leu161=)	NC_000008.10:g.97157676C>A	(Likely) benign	2 labs	a70ddc76e3
2:105979730 FHL2 C>A	2	105979730	105979730	C	A	FHL2	c.688+12G>T	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105979730C>A	(Likely) benign	2 labs	a716bb6243
4:122756305 BBS7 T>C	4	122756305	122756305	T	C	BBS7	c.1505A>G	NM_176824.3	NP_789794.1:p.(His502Arg)	NC_000004.11:g.122756305T>C	(Likely) benign	2 labs	a71aecfa50
16:29706379 QPRT C>T	16	29706379	29706379	C	T	QPRT	c.408C>T	NM_014298.6	NP_055113.3:p.(Gly136=)	NC_000016.9:g.29706379C>T	(Likely) benign	2 labs	a729ddbfde
14:50585317 SOS2 C>A	14	50585317	50585317	C	A	SOS2	c.3744G>T	NM_006939.4	NP_008870.2:p.(Trp1248Cys)	NC_000014.8:g.50585317C>A	(Likely) benign	3 labs	a742455f7d
11:31815285 PAX6 C>T	11	31815285	31815285	C	T	PAX6	c.824G>A	NM_000280.5	NP_000271.1:p.(Arg275Lys)	NC_000011.9:g.31815285C>T	(Likely) benign	3 labs	a73254cf97
6:135732479 AHI1 A>AGTC	6	135732479	135732480	A	AGTC	AHI1	c.2961+6_2961+7insGAC	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135732479_135732480insGTC	(Likely) benign	2 labs	a73688f222
10:75849829 VCL C>G	10	75849829	75849829	C	G	VCL	c.1225C>G	NM_003373.4	NP_003364.1:p.(Arg409Gly)	NC_000010.10:g.75849829C>G	VUS	2 labs	a73a90e216
2:179549705 TTN G>A	2	179549705	179549705	G	A	TTN	c.32482C>T	NM_001267550.2	NP_001254479.2:p.(Pro10828Ser)	NC_000002.11:g.179549705G>A	VUS	2 labs	a73d3fedf7
19:10935741 DNM2 C>T	19	10935741	10935741	C	T	DNM2	c.1902C>T	NM_001005360.3	NP_001005360.1:p.(Asn634=)	NC_000019.9:g.10935741C>T	(Likely) benign	3 labs	a754471eaf
21:47542779 COL6A2 C>T	21	47542779	47542779	C	T	COL6A2	c.1609-10C>T	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47542779C>T	(Likely) benign	2 labs	a7563d3955
15:44855454 SPG11 C>T	15	44855454	44855454	C	T	SPG11	c.7197G>A	NM_025137.4	NP_079413.3:p.(Lys2399=)	NC_000015.9:g.44855454C>T	(Likely) benign	3 labs	a76062d3bf
15:85411669 ALPK3 G>A	15	85411669	85411669	G	A	ALPK3	c.5100G>A	NM_020778.5	NP_065829.4:p.(Lys1700=)	NC_000015.9:g.85411669G>A	(Likely) benign	2 labs	a7667f0df1
2:179515469 TTN C>G	2	179515469	179515469	C	G	TTN	c.39709+9G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179515469C>G	(Likely) benign	3 labs	a767d8c9a4
Y:16952335 NLGN4Y T>C	Y	16952335	16952335	T	C	NLGN4Y	c.1644T>C	NM_001365590.1	NP_001352519.1:p.(His548=)	NC_000024.9:g.16952335T>C	(Likely) benign	2 labs	a773debfb9
9:117185765 WHRN C>T	9	117185765	117185765	C	T	WHRN	c.1455G>A	NM_001173425.2	NP_001166896.1:p.(Pro485=)	NC_000009.11:g.117185765C>T	(Likely) benign	2 labs	a7749beb25
19:49671815 TRPM4 G>A	19	49671815	49671815	G	A	TRPM4	c.618G>A	NM_017636.4	NP_060106.2:p.(Ser206=)	NC_000019.9:g.49671815G>A	(Likely) benign	2 labs	a7781bc4d0
13:39343822 FREM2 C>T	13	39343822	39343822	C	T	FREM2	c.5518C>T	NM_207361.6	NP_997244.4:p.(Arg1840Trp)	NC_000013.10:g.39343822C>T	(Likely) benign	2 labs	a77852226f
12:57883193 MARS1 C>T	12	57883193	57883193	C	T	MARS1	c.280-14C>T	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57883193C>T	(Likely) benign	2 labs	a786098cc1
2:179638687 TTN A>G	2	179638687	179638687	A	G	TTN	c.7208T>C	NM_001267550.2	NP_001254479.2:p.(Ile2403Thr)	NC_000002.11:g.179638687A>G	VUS	3 labs	a787e25b67
6:88258368 RARS2 C>CA	6	88258368	88258376	C	CA	RARS2	c.396-5dup	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88258376dup	(Likely) benign	2 labs	a78b83cf33
16:15812221 MYH11 TGCTCCTCCTCCA>T	16	15812221	15812248	TGCTCCTCCTCCA	T	MYH11	c.5255_5266del	NM_001040113.2	NP_001035202.1:p.(Leu1752_Glu1755del)	NC_000016.9:g.15812237_15812248del	VUS	2 labs	a78f64b28a
1:103540213 COL11A1 C>A	1	103540213	103540213	C	A	COL11A1	c.612G>T	NM_080629.3	NP_542196.2:p.(Thr204=)	NC_000001.10:g.103540213C>A	(Likely) benign	2 labs	a7993407b0
5:55237432 IL6ST A>C	5	55237432	55237432	A	C	IL6ST	c.2235T>G	NM_002184.4	NP_002175.2:p.(Asp745Glu)	NC_000005.9:g.55237432A>C	(Likely) benign	2 labs	a79bcd920f
3:38607883 SCN5A C>T	3	38607883	38607883	C	T	SCN5A	c.3840+17G>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38607883C>T	(Likely) benign	2 labs	a79dbd9d80
15:48797307 FBN1 A>G	15	48797307	48797307	A	G	FBN1	c.1875T>C	NM_000138.5	NP_000129.3:p.(Asn625=)	NC_000015.9:g.48797307A>G	(Likely) benign	2 labs	a7a4b0b7bc
1:3327973 PRDM16 G>A	1	3327973	3327973	G	A	PRDM16	c.1212G>A	NM_022114.4	NP_071397.3:p.(Thr404=)	NC_000001.10:g.3327973G>A	(Likely) benign	3 labs	a7ade9a86c
2:152236045 TNFAIP6 TAA>T	2	152236045	152236059	TAA	T	TNFAIP6	c.*11_*12del	NM_007115.4	NP_009046.2:p.?	NC_000002.11:g.152236058_152236059del	(Likely) benign	2 labs	a7ae68fad6
X:153792158 IKBKG G>C	X	153792158	153792158	G	C	IKBKG	c.1056-16G>C	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153792158G>C	(Likely) benign	2 labs	a7af847098
3:132224128 DNAJC13 G>A	3	132224128	132224128	G	A	DNAJC13	c.4885-18G>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132224128G>A	(Likely) benign	2 labs	a7bca1ad2c
14:51054598 ATL1 A>G	14	51054598	51054598	A	G	ATL1	c.84A>G	NM_001127713.1	NP_001121185.1:p.(Pro28=)	NC_000014.8:g.51054598A>G	(Likely) benign	2 labs	a7c106e301
14:102489099 DYNC1H1 A>G	14	102489099	102489099	A	G	DYNC1H1	c.8519A>G	NM_001376.5	NP_001367.2:p.(Asp2840Gly)	NC_000014.8:g.102489099A>G	VUS	2 labs	a7cb814821
22:50895458 SBF1 G>C	22	50895458	50895458	G	C	SBF1	c.3904+5C>G	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50895458G>C	(Likely) benign	3 labs	a7d644fd34
2:44573442 PREPL G>A	2	44573442	44573442	G	A	PREPL	c.307C>T	NM_006036.4	NP_006027.2:p.(Gln103Ter)	NC_000002.11:g.44573442G>A	(Likely) pathogenic	2 labs	a7dc7a7960
2:109384469 RANBP2 A>C	2	109384469	109384469	A	C	RANBP2	c.7474A>C	NM_006267.5	NP_006258.3:p.(Thr2492Pro)	NC_000002.11:g.109384469A>C	(Likely) benign	2 labs	a7df17e349
22:50901081 SBF1 C>T	22	50901081	50901081	C	T	SBF1	c.2034G>A	NM_002972.4	NP_002963.2:p.(Thr678=)	NC_000022.10:g.50901081C>T	(Likely) benign	2 labs	a7e5e732fa
2:179472059 TTN C>A	2	179472059	179472059	C	A	TTN	c.53288-18G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472059C>A	(Likely) benign	4 labs	a7ece1d765
15:85406846 ALPK3 G>A	15	85406846	85406846	G	A	ALPK3	c.4474G>A	NM_020778.5	NP_065829.4:p.(Ala1492Thr)	NC_000015.9:g.85406846G>A	(Likely) benign	2 labs	a7ecef030c
1:94577008 ABCA4 G>T	1	94577008	94577008	G	T	ABCA4	c.288C>A	NM_000350.3	NP_000341.2:p.(Asn96Lys)	NC_000001.10:g.94577008G>T	VUS	2 labs	a7ed229c44
11:19204205 CSRP3 C>T	11	19204205	19204205	C	T	CSRP3	c.428G>A	NM_001369404.1	NP_001356333.1:p.(Arg143His)	NC_000011.9:g.19204205C>T	(Likely) benign	2 labs	a7f0f4b687
6:152671865 SYNE1 T>G	6	152671865	152671865	T	G	SYNE1	c.11621A>C	NM_182961.4	NP_892006.3:p.(Lys3874Thr)	NC_000006.11:g.152671865T>G	(Likely) benign	3 labs	a7f7ffdf16
9:79996990 VPS13A A>G	9	79996990	79996990	A	G	VPS13A	c.9176A>G	NM_033305.3	NP_150648.2:p.(Asn3059Ser)	NC_000009.11:g.79996990A>G	(Likely) benign	2 labs	a8041fbedd
3:38646259 SCN5A C>T	3	38646259	38646259	C	T	SCN5A	c.1479G>A	NM_198056.3	NP_932173.1:p.(Arg493=)	NC_000003.11:g.38646259C>T	(Likely) benign	2 labs	a816752a61
15:89870432 POLG C>T	15	89870432	89870432	C	T	POLG	c.1399G>A	NM_002693.2	NP_002684.1:p.(Ala467Thr)	NC_000015.9:g.89870432C>T	(Likely) pathogenic	5 labs	a817badb54
2:21228339 APOB A>T	2	21228339	21228339	A	T	APOB	c.11401T>A	NM_000384.3	NP_000375.3:p.(Ser3801Thr)	NC_000002.11:g.21228339A>T	(Likely) benign	2 labs	a81ab2bcbb
10:123325158 FGFR2 G>A	10	123325158	123325158	G	A	FGFR2	c.170C>T	NM_000141.5	NP_000132.3:p.(Ser57Leu)	NC_000010.10:g.123325158G>A	(Likely) benign	3 labs	a8259dc184
16:49671722 ZNF423 C>G	16	49671722	49671722	C	G	ZNF423	c.1161G>C	NM_001271620.2	NP_001258549.1:p.(Leu387=)	NC_000016.9:g.49671722C>G	(Likely) benign	2 labs	a82b941c0f
16:3779045 CREBBP A>G	16	3779045	3779045	A	G	CREBBP	c.6003T>C	NM_004380.3	NP_004371.2:p.(Asn2001=)	NC_000016.9:g.3779045A>G	(Likely) benign	2 labs	a838c5f11e
4:126241785 FAT4 G>A	4	126241785	126241785	G	A	FAT4	c.4219G>A	NM_001291303.3	NP_001278232.1:p.(Val1407Ile)	NC_000004.11:g.126241785G>A	(Likely) benign	2 labs	a83c659178
15:23890106 MAGEL2 G>A	15	23890106	23890106	G	A	MAGEL2	c.2784C>T	NM_019066.5	NP_061939.3:p.(Ile928=)	NC_000015.9:g.23890106G>A	(Likely) benign	2 labs	a84f14da0c
7:6017189 PMS2 T>C	7	6017189	6017189	T	C	PMS2	c.2445+30A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6017189T>C	(Likely) benign	3 labs	a856886555
21:46930163 COL18A1 C>T	21	46930163	46930163	C	T	COL18A1	c.4917C>T	NM_130444.3	NP_569711.2:p.(Ile1639=)	NC_000021.8:g.46930163C>T	(Likely) benign	2 labs	a857b0e766
9:139410178 NOTCH1 G>A	9	139410178	139410178	G	A	NOTCH1	c.1670-10C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410178G>A	(Likely) benign	3 labs	a85c610c82
17:41215825 BRCA1 C>T	17	41215825	41215825	C	T	BRCA1	c.5152+66G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215825C>T	(Likely) benign	5 labs	a862caa53f
17:41228532 BRCA1 C>T	17	41228532	41228532	C	T	BRCA1	c.4457G>A	NM_007294.4	NP_009225.1:p.(Ser1486Asn)	NC_000017.10:g.41228532C>T	(Likely) benign	3 labs	a86b49f04c
2:73677983 ALMS1 G>T	2	73677983	73677983	G	T	ALMS1	c.4332G>T	NM_015120.4	NP_055935.4:p.(Leu1444Phe)	NC_000002.11:g.73677983G>T	(Likely) benign	4 labs	a872e97e23
2:189923630 COL5A2 ATT>A	2	189923630	189923642	ATT	A	COL5A2	c.2086-13_2086-12del	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189923641_189923642del	(Likely) benign	2 labs	a884b9a705
12:110641728 IFT81 C>T	12	110641728	110641728	C	T	IFT81	c.1617C>T	NM_014055.4	NP_054774.2:p.(Leu539=)	NC_000012.11:g.110641728C>T	(Likely) benign	2 labs	a88568152e
18:29118854 DSG2 G>A	18	29118854	29118854	G	A	DSG2	c.1792G>A	NM_001943.5	NP_001934.2:p.(Gly598Ser)	NC_000018.9:g.29118854G>A	VUS	2 labs	a891813fce
7:91695779 AKAP9 C>T	7	91695779	91695779	C	T	AKAP9	c.6249C>T	NM_005751.5	NP_005742.4:p.(Phe2083=)	NC_000007.13:g.91695779C>T	(Likely) benign	4 labs	a8968d20e7
X:153589890 FLNA G>C	X	153589890	153589890	G	C	FLNA	c.2993C>G	NM_001110556.2	NP_001104026.1:p.(Ala998Gly)	NC_000023.10:g.153589890G>C	VUS	2 labs	a89ae0a3d0
2:202617929 ALS2 T>C	2	202617929	202617929	T	C	ALS2	c.1677A>G	NM_020919.4	NP_065970.2:p.(Lys559=)	NC_000002.11:g.202617929T>C	(Likely) benign	3 labs	a89ce8db87
19:11332560 DOCK6 G>A	19	11332560	11332560	G	A	DOCK6	c.3517C>T	NM_020812.4	NP_065863.2:p.(Arg1173Trp)	NC_000019.9:g.11332560G>A	(Likely) benign	4 labs	a89f82eb5f
3:129249876 RHO C>T	3	129249876	129249876	C	T	RHO	c.519C>T	NM_000539.3	NP_000530.1:p.(Ala173=)	NC_000003.11:g.129249876C>T	(Likely) benign	2 labs	a8a4eeb0b2
4:15517532 CC2D2A T>C	4	15517532	15517532	T	C	CC2D2A	c.922T>C	NM_001080522.2	NP_001073991.2:p.(Phe308Leu)	NC_000004.11:g.15517532T>C	(Likely) benign	3 labs	a8a60d991d
2:179408134 TTN T>A	2	179408134	179408134	T	A	TTN	c.88862A>T	NM_133378.4	NP_596869.4:p.(Glu29621Val)	NC_000002.11:g.179408134T>A	VUS	3 labs	a8a8edae73
14:23853741 MYH6 C>T	14	23853741	23853741	C	T	MYH6	c.5475G>A	NM_002471.4	NP_002462.2:p.(Glu1825=)	NC_000014.8:g.23853741C>T	(Likely) benign	3 labs	a8aeb2c61b
2:189872608 COL3A1 C>T	2	189872608	189872608	C	T	COL3A1	c.3364-3C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872608C>T	(Likely) benign	3 labs	a8b3abdb32
X:77243944 ATP7A G>A	X	77243944	77243944	G	A	ATP7A	c.327G>A	NM_000052.7	NP_000043.4:p.(Lys109=)	NC_000023.10:g.77243944G>A	(Likely) benign	2 labs	a8b49ec962
1:197053561 ASPM T>TA	1	197053561	197053576	T	TA	ASPM	c.10332-6dup	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197053576dup	(Likely) benign	2 labs	a8bc9f0beb
2:56103885 EFEMP1 A>G	2	56103885	56103885	A	G	EFEMP1	c.761-8T>C	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56103885A>G	(Likely) benign	2 labs	a8bf2046c4
12:56078872 ITGA7 G>A	12	56078872	56078872	G	A	ITGA7	c.3396C>T	NM_001144996.2	NP_001138468.1:p.(Pro1132=)	NC_000012.11:g.56078872G>A	(Likely) benign	2 labs	a8c1595ef6
X:9707521 GPR143 T>C	X	9707521	9707521	T	C	GPR143	c.1120+4A>G	NM_000273.3	NP_000264.2:p.?	NC_000023.10:g.9707521T>C	(Likely) benign	3 labs	a8c3226089
6:100061003 PRDM13 C>T	6	100061003	100061003	C	T	PRDM13	c.492C>T	NM_021620.4	NP_067633.2:p.(Gly164=)	NC_000006.11:g.100061003C>T	(Likely) benign	2 labs	a8c4425772
7:128487758 FLNC G>A	7	128487758	128487758	G	A	FLNC	c.4296G>A	NM_001458.5	NP_001449.3:p.(Pro1432=)	NC_000007.13:g.128487758G>A	(Likely) benign	2 labs	a8c46f66be
2:179581893 TTN G>A	2	179581893	179581893	G	A	TTN	c.25568C>T	NM_001267550.2	NP_001254479.2:p.(Ala8523Val)	NC_000002.11:g.179581893G>A	VUS	2 labs	a8ced8a46e
10:88478597 LDB3 C>T	10	88478597	88478597	C	T	LDB3	c.1986C>T	NM_001171610.2	NP_001165081.1:p.(Cys662=)	NC_000010.10:g.88478597C>T	(Likely) benign	3 labs	a8c94dbcc0
9:126132568 CRB2 C>T	9	126132568	126132568	C	T	CRB2	c.1236C>T	NM_173689.7	NP_775960.4:p.(Ile412=)	NC_000009.11:g.126132568C>T	(Likely) benign	3 labs	a8ccf6adbf
12:9013771 A2ML1 C>T	12	9013771	9013771	C	T	A2ML1	c.3380C>T	NM_144670.6	NP_653271.3:p.(Ser1127Leu)	NC_000012.11:g.9013771C>T	(Likely) benign	2 labs	a8cf8b5b96
11:46726153 ZNF408 G>T	11	46726153	46726153	G	T	ZNF408	c.903G>T	NM_024741.3	NP_079017.1:p.(Pro301=)	NC_000011.9:g.46726153G>T	(Likely) benign	2 labs	a8d413ed4b
16:57921823 CNGB1 C>T	16	57921823	57921823	C	T	CNGB1	c.3398G>A	NM_001297.5	NP_001288.3:p.(Arg1133Gln)	NC_000016.9:g.57921823C>T	VUS	2 labs	a8d41d43cd
14:23887595 MYH7 G>A	14	23887595	23887595	G	A	MYH7	c.3993C>T	NM_000257.4	NP_000248.2:p.(His1331=)	NC_000014.8:g.23887595G>A	(Likely) benign	3 labs	a8e3152415
4:88535832 DSPP A>ATAGCAGTGACAGCAGCAG	4	88535832	88535867	A	ATAGCAGTGACAGCAGCAG	DSPP	c.2036_2053dup	NM_014208.3	NP_055023.2:p.(Ser679_Ser684dup)	NC_000004.11:g.88535850_88535867dup	(Likely) benign	3 labs	a8e57511ba
X:153577800 FLNA G>A	X	153577800	153577800	G	A	FLNA	c.7686C>T	NM_001110556.2	NP_001104026.1:p.(Ala2562=)	NC_000023.10:g.153577800G>A	(Likely) benign	3 labs	a8e6351705
2:238289694 COL6A3 G>A	2	238289694	238289694	G	A	COL6A3	c.1761C>T	NM_004369.4	NP_004360.2:p.(Ala587=)	NC_000002.11:g.238289694G>A	(Likely) benign	3 labs	a8e85a7a60
20:42788785 JPH2 C>T	20	42788785	42788785	C	T	JPH2	c.642G>A	NM_020433.5	NP_065166.2:p.(Ala214=)	NC_000020.10:g.42788785C>T	(Likely) benign	2 labs	a8ec29cd68
9:27029105 IFT74 A>T	9	27029105	27029105	A	T	IFT74	c.1054+3A>T	NM_001349928.2	NP_001336857.1:p.?	NC_000009.11:g.27029105A>T	(Likely) benign	2 labs	a8ee408cbc
15:85403024 ALPK3 C>T	15	85403024	85403024	C	T	ALPK3	c.3983C>T	NM_020778.5	NP_065829.4:p.(Pro1328Leu)	NC_000015.9:g.85403024C>T	VUS	2 labs	a8ffffd0c3
4:126369872 FAT4 G>C	4	126369872	126369872	G	C	FAT4	c.7707G>C	NM_001291303.3	NP_001278232.1:p.(Val2569=)	NC_000004.11:g.126369872G>C	(Likely) benign	3 labs	a8f93a3a98
1:216424331 USH2A C>T	1	216424331	216424331	C	T	USH2A	c.2081G>A	NM_206933.4	NP_996816.3:p.(Cys694Tyr)	NC_000001.10:g.216424331C>T	VUS	2 labs	a90094ba0f
2:179477578 TTN G>A	2	179477578	179477578	G	A	TTN	c.49870C>T	NM_001267550.2	NP_001254479.2:p.(Arg16624Ter)	NC_000002.11:g.179477578G>A	(Likely) pathogenic	2 labs	a90d330369
3:123368043 MYLK T>TG	3	123368043	123368051	T	TG	MYLK	c.4289-3dup	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123368051dup	(Likely) benign	3 labs	a90f13590f
1:154570903 ADAR T>C	1	154570903	154570903	T	C	ADAR	c.1760A>G	NM_001111.5	NP_001102.3:p.(Tyr587Cys)	NC_000001.10:g.154570903T>C	(Likely) benign	3 labs	a90f3996a2
10:55569263 PCDH15 T>G	10	55569263	55569263	T	G	PCDH15	c.4597A>C	NM_001142770.3	NP_001136242.1:p.(Ser1533Arg)	NC_000010.10:g.55569263T>G	(Likely) benign	2 labs	a914a81eca
12:7244252 C1R C>T	12	7244252	7244252	C	T	C1R	c.27G>A	NM_001733.7	NP_001724.4:p.(Pro9=)	NC_000012.11:g.7244252C>T	(Likely) benign	2 labs	a918aae232
8:144295173 GPIHBP1 C>T	8	144295173	144295173	C	T	GPIHBP1	c.31C>T	NM_178172.6	NP_835466.2:p.(Leu11Phe)	NC_000008.10:g.144295173C>T	VUS	2 labs	a91dc2bf19
8:145584159 SLC52A2 C>T	8	145584159	145584159	C	T	SLC52A2	c.1001+6C>T	NM_001363118.2	NP_001350047.1:p.?	NC_000008.10:g.145584159C>T	(Likely) benign	2 labs	a92963d9cb
6:32064726 TNXB T>C	6	32064726	32064726	T	C	TNXB	c.904A>G	NM_019105.8	NP_061978.6:p.(Thr302Ala)	NC_000006.11:g.32064726T>C	(Likely) benign	2 labs	a93043ceef
17:15930734 TTC19 A>G	17	15930734	15930734	A	G	TTC19	c.720A>G	NM_001271420.2	NP_001258349.1:p.(Gln240=)	NC_000017.10:g.15930734A>G	(Likely) benign	2 labs	a938c39c39
22:19754091 TBX1 A>C	22	19754091	19754091	A	C	TBX1	c.1189A>C	NM_080647.1	NP_542378.1:p.(Asn397His)	NC_000022.10:g.19754091A>C	(Likely) benign	3 labs	a967b0e6ee
10:55721636 PCDH15 C>A	10	55721636	55721636	C	A	PCDH15	c.2900G>T	NM_001142771.2	NP_001136243.1:p.(Arg967Leu)	NC_000010.10:g.55721636C>A	(Likely) benign	3 labs	a94715f2b4
6:123658776 TRDN G>T	6	123658776	123658776	G	T	TRDN	c.1408C>A	NM_006073.4	NP_006064.2:p.(Leu470Met)	NC_000006.11:g.123658776G>T	(Likely) benign	2 labs	a95f2b8dbb
4:15560806 CC2D2A C>T	4	15560806	15560806	C	T	CC2D2A	c.2848C>T	NM_001080522.2	NP_001073991.2:p.(Arg950Ter)	NC_000004.11:g.15560806C>T	(Likely) pathogenic	2 labs	a96ee277ba
4:6303857 WFS1 G>A	4	6303857	6303857	G	A	WFS1	c.2335G>A	NM_006005.3	NP_005996.2:p.(Val779Met)	NC_000004.11:g.6303857G>A	(Likely) benign	3 labs	a9819251b3
X:119590532 LAMP2 G>A	X	119590532	119590532	G	A	LAMP2	c.157C>T	NM_002294.3	NP_002285.1:p.(Arg53Cys)	NC_000023.10:g.119590532G>A	(Likely) benign	3 labs	a983d88f30
2:48030639 MSH6 A>AC	2	48030639	48030647	A	AC	MSH6	c.3261dup	NM_000179.3	NP_000170.1:p.(Phe1088LeufsTer5)	NC_000002.11:g.48030647dup	(Likely) pathogenic	4 labs	a99af7d668
2:203384788 BMPR2 T>TC	2	203384788	203384789	T	TC	BMPR2	c.853-21dup	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203384789dup	(Likely) benign	2 labs	a988652988
9:133942558 LAMC3 C>T	9	133942558	133942558	C	T	LAMC3	c.2559C>T	NM_006059.4	NP_006050.3:p.(Ser853=)	NC_000009.11:g.133942558C>T	(Likely) benign	2 labs	a99e91278e
X:114864250 PLS3 C>T	X	114864250	114864250	C	T	PLS3	c.471C>T	NM_005032.7	NP_005023.2:p.(Phe157=)	NC_000023.10:g.114864250C>T	(Likely) benign	2 labs	a9a531eb69
6:152542604 SYNE1 C>T	6	152542604	152542604	C	T	SYNE1	c.21613G>A	NM_182961.4	NP_892006.3:p.(Val7205Met)	NC_000006.11:g.152542604C>T	VUS	2 labs	a9a9808393
11:17470058 ABCC8 AG>A	11	17470058	17470059	AG	A	ABCC8	c.1332+4del	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17470059del	(Likely) benign	3 labs	a9b3625d6b
15:38631920 SPRED1 G>A	15	38631920	38631920	G	A	SPRED1	c.424-18G>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38631920G>A	(Likely) benign	4 labs	a9cdebe6dd
X:100524197 TAF7L C>T	X	100524197	100524197	C	T	TAF7L	c.1373G>A	NM_024885.4	NP_079161.3:p.(Arg458His)	NC_000023.10:g.100524197C>T	(Likely) benign	3 labs	a9dbdc70dd
13:20763438 GJB2 C>T	13	20763438	20763438	C	T	GJB2	c.283G>A	NM_004004.6	NP_003995.2:p.(Val95Met)	NC_000013.10:g.20763438C>T	(Likely) pathogenic	2 labs	a9dd95e1c4
5:33988445 AMACR A>C	5	33988445	33988445	A	C	AMACR	c.1153T>G	NM_001167595.2	NP_001161067.1:p.(Leu385Val)	NC_000005.9:g.33988445A>C	(Likely) benign	2 labs	a9e50b5cc1
11:17408666 KCNJ11 G>T	11	17408666	17408666	G	T	KCNJ11	c.973C>A	NM_000525.4	NP_000516.3:p.(Arg325Ser)	NC_000011.9:g.17408666G>T	VUS	2 labs	a9ea7b274d
8:61707678 CHD7 G>A	8	61707678	61707678	G	A	CHD7	c.2230G>A	NM_017780.4	NP_060250.2:p.(Gly744Ser)	NC_000008.10:g.61707678G>A	(Likely) benign	4 labs	a9eee11b9b
10:55582229 PCDH15 TAGG>T	10	55582229	55582241	TAGG	T	PCDH15	c.5275_5277del	NM_001142763.2	NP_001136235.1:p.(Pro1759del)	NC_000010.10:g.55582239_55582241del	(Likely) benign	2 labs	a9ef1a0519
3:42251577 TRAK1 CGGA>C	3	42251577	42251609	CGGA	C	TRAK1	c.2093_2095del	NM_001265608.2	NP_001252537.1:p.(Glu698del)	NC_000003.11:g.42251607_42251609del	(Likely) benign	2 labs	a9f93dfcec
4:55976947 KDR T>TA	4	55976947	55976960	T	TA	KDR	c.977-13dup	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976960dup	(Likely) benign	2 labs	aa01f5e091
15:35083508 ACTC1 TCACACA>T	15	35083508	35083554	TCACACA	T	ACTC1	c.809-18_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083549_35083554del	(Likely) benign	3 labs	aa0a626c06
6:3113492 RIPK1 G>A	6	3113492	3113492	G	A	RIPK1	c.1935G>A	NM_003804.6	NP_003795.2:p.(Thr645=)	NC_000006.11:g.3113492G>A	(Likely) benign	3 labs	aa0f506645
3:37045863 MLH1 C>A	3	37045863	37045863	C	A	MLH1	c.307-29C>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37045863C>A	(Likely) benign	4 labs	aa1e75c8c3
1:100661987 DBT GAAAAA>G	1	100661987	100662015	GAAAAA	G	DBT	c.1282-14_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662011_100662015del	(Likely) benign	2 labs	aa28fa4603
1:156105759 LMNA G>A	1	156105759	156105759	G	A	LMNA	c.1004G>A	NM_170707.4	NP_733821.1:p.(Arg335Gln)	NC_000001.10:g.156105759G>A	VUS	3 labs	aa2972c53b
16:88495361 ZNF469 C>T	16	88495361	88495361	C	T	ZNF469	c.1483C>T	NM_001367624.2	NP_001354553.1:p.(Pro495Ser)	NC_000016.9:g.88495361C>T	(Likely) benign	2 labs	aa2d164606
21:47545889 COL6A2 C>G	21	47545889	47545889	C	G	COL6A2	c.2160C>G	NM_058175.3	NP_478055.2:p.(Arg720=)	NC_000021.8:g.47545889C>G	(Likely) benign	2 labs	aa2d8e7e39
7:128494726 FLNC C>T	7	128494726	128494726	C	T	FLNC	c.6987C>T	NM_001458.5	NP_001449.3:p.(Ala2329=)	NC_000007.13:g.128494726C>T	(Likely) benign	2 labs	aa33c02428
1:235564813 TBCE G>A	1	235564813	235564813	G	A	TBCE	c.101-5G>A	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235564813G>A	(Likely) benign	2 labs	aa36269fbf
2:179464457 TTN T>C	2	179464457	179464457	T	C	TTN	c.56171A>G	NM_001267550.2	NP_001254479.2:p.(Lys18724Arg)	NC_000002.11:g.179464457T>C	VUS	2 labs	aa3c68bcae
14:23902733 MYH7 A>T	14	23902733	23902733	A	T	MYH7	c.201+8T>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23902733A>T	(Likely) benign	5 labs	aa3f07bde9
4:15539523 CC2D2A G>A	4	15539523	15539523	G	A	CC2D2A	c.1766G>A	NM_001080522.2	NP_001073991.2:p.(Arg589Lys)	NC_000004.11:g.15539523G>A	(Likely) benign	2 labs	aa451bf6f3
12:994572 WNK1 TAGC>T	12	994572	994577	TAGC	T	WNK1	c.5385_5387del	NM_001184985.2	NP_001171914.1:p.(Ser1796del)	NC_000012.11:g.994575_994577del	(Likely) benign	2 labs	aa482e9365
17:41243512 BRCA1 C>T	17	41243512	41243512	C	T	BRCA1	c.4036G>A	NM_007294.4	NP_009225.1:p.(Glu1346Lys)	NC_000017.10:g.41243512C>T	(Likely) benign	4 labs	aa4a73db33
4:15482861 CC2D2A G>A	4	15482861	15482861	G	A	CC2D2A	c.288G>A	NM_001164720.3	NP_001158192.1:p.(Thr96=)	NC_000004.11:g.15482861G>A	(Likely) benign	2 labs	aa4a9080bd
1:236924393 ACTN2 G>A	1	236924393	236924393	G	A	ACTN2	c.1822G>A	NM_001278344.2	NP_001265273.1:p.(Asp608Asn)	NC_000001.10:g.236924393G>A	VUS	3 labs	aa4d92c0e2
11:47362759 MYBPC3 G>C	11	47362759	47362759	G	C	MYBPC3	c.1827C>G	NM_000256.3	NP_000247.2:p.(Ala609=)	NC_000011.9:g.47362759G>C	(Likely) benign	3 labs	aa5c4f995e
15:75183935 MPI G>A	15	75183935	75183935	G	A	MPI	c.345+15G>A	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75183935G>A	(Likely) benign	2 labs	aa6ac93331
17:42987509 GFAP C>T	17	42987509	42987509	C	T	GFAP	c.1291G>A	NM_001131019.3	NP_001124491.1:p.(Gly431Ser)	NC_000017.10:g.42987509C>T	VUS	2 labs	aa6bdf3cbe
6:123687288 TRDN A>T	6	123687288	123687288	A	T	TRDN	c.1313T>A	NM_006073.4	NP_006064.2:p.(Ile438Asn)	NC_000006.11:g.123687288A>T	(Likely) benign	2 labs	aa70b059da
1:94497500 ABCA4 G>A	1	94497500	94497500	G	A	ABCA4	c.3962C>T	NM_000350.3	NP_000341.2:p.(Ser1321Phe)	NC_000001.10:g.94497500G>A	VUS	2 labs	aa70efe9c7
1:213061308 FLVCR1 T>C	1	213061308	213061308	T	C	FLVCR1	c.1272T>C	NM_014053.4	NP_054772.1:p.(Tyr424=)	NC_000001.10:g.213061308T>C	(Likely) benign	2 labs	aa846bb5c1
3:53814151 CACNA1D C>T	3	53814151	53814151	C	T	CACNA1D	c.4746C>T	NM_000720.4	NP_000711.1:p.(Thr1582=)	NC_000003.11:g.53814151C>T	(Likely) benign	2 labs	aa849d0579
2:86459761 REEP1 G>A	2	86459761	86459761	G	A	REEP1	c.347C>T	NM_001164732.2	NP_001158204.1:p.(Ala116Val)	NC_000002.11:g.86459761G>A	(Likely) benign	2 labs	aa85cbd1d7
7:150671830 KCNH2 G>A	7	150671830	150671830	G	A	KCNH2	c.276C>T	NM_000238.4	NP_000229.1:p.(Arg92=)	NC_000007.13:g.150671830G>A	(Likely) benign	2 labs	aa867fc007
X:66765158 AR TGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCA	T	AR	c.231_239del	NM_000044.6	NP_000035.2:p.(Gln78_Gln80del)	NC_000023.10:g.66765219_66765227del	(Likely) benign	3 labs	aa94bf7392
3:123383039 MYLK C>T	3	123383039	123383039	C	T	MYLK	c.3898G>A	NM_053025.4	NP_444253.3:p.(Ala1300Thr)	NC_000003.11:g.123383039C>T	(Likely) benign	2 labs	aa94c83be0
16:2134508 TSC2 G>T	16	2134508	2134508	G	T	TSC2	c.4285G>T	NM_000548.5	NP_000539.2:p.(Ala1429Ser)	NC_000016.9:g.2134508G>T	(Likely) benign	4 labs	aa9826a789
19:11343874 DOCK6 C>G	19	11343874	11343874	C	G	DOCK6	c.2718+5G>C	NM_001367830.1	NP_001354759.1:p.?	NC_000019.9:g.11343874C>G	VUS	2 labs	aa9f56d741
1:22170712 HSPG2 C>A	1	22170712	22170712	C	A	HSPG2	c.8548G>T	NM_001291860.2	NP_001278789.1:p.(Val2850Leu)	NC_000001.10:g.22170712C>A	(Likely) benign	4 labs	aaa5473945
1:3329140 PRDM16 G>A	1	3329140	3329140	G	A	PRDM16	c.2379G>A	NM_022114.4	NP_071397.3:p.(Ser793=)	NC_000001.10:g.3329140G>A	(Likely) benign	2 labs	aaa5f75a06
2:179494176 TTN C>T	2	179494176	179494176	C	T	TTN	c.44282-6G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179494176C>T	(Likely) benign	2 labs	aaa9e3e9f9
19:54625878 PRPF31 A>G	19	54625878	54625878	A	G	PRPF31	c.325A>G	NM_015629.4	NP_056444.3:p.(Ile109Val)	NC_000019.9:g.54625878A>G	VUS	2 labs	aab598cd82
9:135204483 SETX T>C	9	135204483	135204483	T	C	SETX	c.2502A>G	NM_001351527.2	NP_001338456.1:p.(Gly834=)	NC_000009.11:g.135204483T>C	(Likely) benign	2 labs	aabb92d34a
7:128481592 FLNC G>A	7	128481592	128481592	G	A	FLNC	c.2092G>A	NM_001458.5	NP_001449.3:p.(Gly698Ser)	NC_000007.13:g.128481592G>A	VUS	2 labs	aac5c2ec6f
2:179578691 TTN C>A	2	179578691	179578691	C	A	TTN	c.26694G>T	NM_001267550.2	NP_001254479.2:p.(Gly8898=)	NC_000002.11:g.179578691C>A	(Likely) benign	3 labs	aac751fb42
11:5247914 HBB C>T	11	5247914	5247914	C	T	HBB	c.208G>A	NM_000518.5	NP_000509.1:p.(Gly70Ser)	NC_000011.9:g.5247914C>T	(Likely) pathogenic	2 labs	aac5141978
1:116310965 CASQ2 C>T	1	116310965	116310965	C	T	CASQ2	c.198G>A	NM_001232.4	NP_001223.2:p.(Thr66=)	NC_000001.10:g.116310965C>T	(Likely) benign	2 labs	aac8b89059
7:299881 FAM20C A>C	7	299881	299881	A	C	FAM20C	c.1690A>C	NM_020223.4	NP_064608.2:p.(Asn564His)	NC_000007.13:g.299881A>C	VUS	2 labs	aace3b58fb
17:8139451 CTC1 G>A	17	8139451	8139451	G	A	CTC1	c.1002C>T	NM_025099.6	NP_079375.3:p.(Leu334=)	NC_000017.10:g.8139451G>A	(Likely) benign	4 labs	aad37d942e
11:108196763 ATM C>G	11	108196763	108196763	C	G	ATM	c.6808-22C>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196763C>G	(Likely) benign	2 labs	aadb18c062
13:32913760 BRCA2 A>G	13	32913760	32913760	A	G	BRCA2	c.5268A>G	NM_000059.4	NP_000050.3:p.(Val1756=)	NC_000013.10:g.32913760A>G	(Likely) benign	4 labs	aadb891044
7:128498402 FLNC T>C	7	128498402	128498402	T	C	FLNC	c.8003T>C	NM_001458.5	NP_001449.3:p.(Met2668Thr)	NC_000007.13:g.128498402T>C	(Likely) benign	2 labs	aaee906200
1:216040469 USH2A CCA>C	1	216040469	216040474	CCA	C	USH2A	c.8723_8724del	NM_206933.4	NP_996816.3:p.(Val2908GlyfsTer29)	NC_000001.10:g.216040473_216040474del	(Likely) pathogenic	2 labs	ab018c1cd5
14:64443258 SYNE2 CTTT>C	14	64443258	64443277	CTTT	C	SYNE2	c.1129-6_1129-4del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64443275_64443277del	(Likely) benign	2 labs	ab0415a21e
11:6636668 TPP1 C>T	11	6636668	6636668	C	T	TPP1	c.1266+5G>A	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6636668C>T	(Likely) benign	3 labs	ab0ac022d8
2:152236045 TNFAIP6 TA>T	2	152236045	152236059	TA	T	TNFAIP6	c.*12del	NM_007115.4	NP_009046.2:p.?	NC_000002.11:g.152236059del	(Likely) benign	2 labs	ab0b8a5105
1:3753068 CEP104 T>A	1	3753068	3753068	T	A	CEP104	c.1308A>T	NM_014704.4	NP_055519.1:p.(Gly436=)	NC_000001.10:g.3753068T>A	(Likely) benign	2 labs	ab126870cb
4:6304118 WFS1 G>A	4	6304118	6304118	G	A	WFS1	c.2596G>A	NM_006005.3	NP_005996.2:p.(Asp866Asn)	NC_000004.11:g.6304118G>A	(Likely) benign	2 labs	ab1b31d0c9
1:237965133 RYR2 A>AT	1	237965133	237965145	A	AT	RYR2	c.14091-11dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237965145dup	(Likely) benign	2 labs	ab24580220
19:47258942 FKRP G>A	19	47258942	47258942	G	A	FKRP	c.235G>A	NM_001039885.3	NP_001034974.1:p.(Val79Met)	NC_000019.9:g.47258942G>A	(Likely) benign	2 labs	ab2d22ac51
12:21331860 SLCO1B1 A>G	12	21331860	21331860	A	G	SLCO1B1	c.633A>G	NM_006446.5	NP_006437.3:p.(Ile211Met)	NC_000012.11:g.21331860A>G	(Likely) benign	2 labs	ab32e3fe69
5:90012552 ADGRV1 G>A	5	90012552	90012552	G	A	ADGRV1	c.9447+6G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90012552G>A	(Likely) benign	2 labs	ab3604cb78
3:14197840 XPC G>A	3	14197840	14197840	G	A	XPC	c.2028C>T	NM_004628.5	NP_004619.3:p.(Tyr676=)	NC_000003.11:g.14197840G>A	(Likely) benign	2 labs	ab3898a420
10:18789874 CACNB2 C>T	10	18789874	18789874	C	T	CACNB2	c.425C>T	NM_000724.4	NP_000715.2:p.(Ser142Phe)	NC_000010.10:g.18789874C>T	(Likely) benign	2 labs	ab3b958345
19:41916721 BCKDHA C>T	19	41916721	41916721	C	T	BCKDHA	c.288C>T	NM_000709.4	NP_000700.1:p.(His96=)	NC_000019.9:g.41916721C>T	(Likely) benign	2 labs	ab3c9bc818
11:77813997 ALG8 CA>C	11	77813997	77814015	CA	C	ALG8	c.1350-4del	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77814015del	(Likely) benign	2 labs	ab3d8176f3
2:73786157 ALMS1 G>C	2	73786157	73786157	G	C	ALMS1	c.10275G>C	NM_015120.4	NP_055935.4:p.(Lys3425Asn)	NC_000002.11:g.73786157G>C	(Likely) benign	4 labs	ab4463835b
15:31342764 TRPM1 G>T	15	31342764	31342764	G	T	TRPM1	c.1336C>A	NM_001252020.2	NP_001238949.1:p.(Pro446Thr)	NC_000015.9:g.31342764G>T	VUS	2 labs	ab4d7c2e5b
19:38939015 RYR1 G>C	19	38939015	38939015	G	C	RYR1	c.821G>C	NM_000540.3	NP_000531.2:p.(Arg274Pro)	NC_000019.9:g.38939015G>C	VUS	2 labs	ab4fc4f1b1
6:7568079 DSP G>A	6	7568079	7568079	G	A	DSP	c.1206G>A	NM_004415.4	NP_004406.2:p.(Lys402=)	NC_000006.11:g.7568079G>A	(Likely) benign	4 labs	ab5ea7dc35
1:237881837 RYR2 T>C	1	237881837	237881837	T	C	RYR2	c.10554+16T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237881837T>C	(Likely) benign	2 labs	ab564efb77
1:235916490 LYST T>C	1	235916490	235916490	T	C	LYST	c.7314A>G	NM_001301365.1	NP_001288294.1:p.(Leu2438=)	NC_000001.10:g.235916490T>C	(Likely) benign	2 labs	ab580b6397
5:112164621 APC A>G	5	112164621	112164621	A	G	APC	c.1695A>G	NM_000038.6	NP_000029.2:p.(Glu565=)	NC_000005.9:g.112164621A>G	(Likely) benign	2 labs	ab5ce23f0b
17:48273335 COL1A1 A>T	17	48273335	48273335	A	T	COL1A1	c.1005T>A	NM_000088.4	NP_000079.2:p.(Gly335=)	NC_000017.10:g.48273335A>T	(Likely) benign	2 labs	ab67198ed0
12:32949045 PKP2 A>G	12	32949045	32949045	A	G	PKP2	c.2487T>C	NM_004572.4	NP_004563.2:p.(Asp829=)	NC_000012.11:g.32949045A>G	(Likely) benign	2 labs	ab6de6dc17
1:161192845 APOA2 CCACACACACACA>C	1	161192845	161192884	CCACACACACACA	C	APOA2	c.53-17_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192873_161192884del	(Likely) benign	3 labs	ab73db54fb
7:42004062 GLI3 G>A	7	42004062	42004062	G	A	GLI3	c.4609C>T	NM_000168.6	NP_000159.3:p.(Arg1537Cys)	NC_000007.13:g.42004062G>A	(Likely) benign	3 labs	ab7576706b
12:88477713 CEP290 T>A	12	88477713	88477713	T	A	CEP290	c.4723A>T	NM_025114.4	NP_079390.3:p.(Lys1575Ter)	NC_000012.11:g.88477713T>A	(Likely) pathogenic	4 labs	ab7ca5e7f0
19:45856503 ERCC2 C>T	19	45856503	45856503	C	T	ERCC2	c.1755G>A	NM_000400.4	NP_000391.1:p.(Gln585=)	NC_000019.9:g.45856503C>T	(Likely) benign	2 labs	ab7ed5ddfd
X:31697652 DMD C>T	X	31697652	31697652	C	T	DMD	c.7712G>A	NM_004006.3	NP_003997.2:p.(Arg2571Gln)	NC_000023.10:g.31697652C>T	VUS	2 labs	abecddb396
17:41197784 BRCA1 G>A	17	41197784	41197784	G	A	BRCA1	c.5503C>T	NM_007294.4	NP_009225.1:p.(Arg1835Ter)	NC_000017.10:g.41197784G>A	(Likely) pathogenic	7 labs	ab9726c30f
3:38793798 SCN10A T>A	3	38793798	38793798	T	A	SCN10A	c.1667A>T	NM_006514.4	NP_006505.4:p.(Gln556Leu)	NC_000003.11:g.38793798T>A	(Likely) benign	2 labs	ab943c397d
1:112525232 KCND3 A>G	1	112525232	112525232	A	G	KCND3	c.117T>C	NM_004980.5	NP_004971.2:p.(Asp39=)	NC_000001.10:g.112525232A>G	(Likely) benign	2 labs	ab94a7ecea
3:53804021 CACNA1D C>T	3	53804021	53804021	C	T	CACNA1D	c.3952C>T	NM_000720.4	NP_000711.1:p.(Pro1318Ser)	NC_000003.11:g.53804021C>T	(Likely) benign	2 labs	ab987f9cd1
11:76883850 MYO7A G>A	11	76883850	76883850	G	A	MYO7A	c.1854G>A	NM_000260.4	NP_000251.3:p.(Leu618=)	NC_000011.9:g.76883850G>A	(Likely) benign	2 labs	ab9bd3568b
3:38593039 SCN5A G>A	3	38593039	38593039	G	A	SCN5A	c.4824C>T	NM_198056.3	NP_932173.1:p.(Leu1608=)	NC_000003.11:g.38593039G>A	(Likely) benign	2 labs	aba58fa5e4
16:3650990 SLX4 G>T	16	3650990	3650990	G	T	SLX4	c.1153C>A	NM_032444.4	NP_115820.2:p.(Pro385Thr)	NC_000016.9:g.3650990G>T	(Likely) benign	3 labs	abaa306798
11:108123628 ATM C>T	11	108123628	108123628	C	T	ATM	c.1887C>T	NM_000051.4	NP_000042.3:p.(Ser629=)	NC_000011.9:g.108123628C>T	(Likely) benign	3 labs	abb6a8c80e
17:41256155 BRCA1 G>T	17	41256155	41256155	G	T	BRCA1	c.425C>A	NM_007294.4	NP_009225.1:p.(Pro142His)	NC_000017.10:g.41256155G>T	(Likely) benign	4 labs	abb8873806
6:152686090 SYNE1 G>T	6	152686090	152686090	G	T	SYNE1	c.10037C>A	NM_182961.4	NP_892006.3:p.(Ser3346Tyr)	NC_000006.11:g.152686090G>T	(Likely) benign	3 labs	abbbf4d815
2:179395067 TTN C>G	2	179395067	179395067	C	G	TTN	c.106275G>C	NM_001267550.2	NP_001254479.2:p.(Gly35425=)	NC_000002.11:g.179395067C>G	(Likely) benign	4 labs	abc8e1dc93
2:179421853 TTN C>T	2	179421853	179421853	C	T	TTN	c.80324G>A	NM_133378.4	NP_596869.4:p.(Arg26775His)	NC_000002.11:g.179421853C>T	VUS	2 labs	abc916b6ce
2:179637861 TTN C>G	2	179637861	179637861	C	G	TTN	c.7830G>C	NM_001267550.2	NP_001254479.2:p.(Met2610Ile)	NC_000002.11:g.179637861C>G	(Likely) benign	2 labs	abd4ac5152
10:76781905 KAT6B GGAA>G	10	76781905	76781929	GGAA	G	KAT6B	c.3310_3312del	NM_012330.4	NP_036462.2:p.(Glu1104del)	NC_000010.10:g.76781927_76781929del	(Likely) benign	3 labs	abe814b6f7
5:148386525 SH3TC2 T>G	5	148386525	148386525	T	G	SH3TC2	c.3594A>C	NM_024577.4	NP_078853.2:p.(Pro1198=)	NC_000005.9:g.148386525T>G	(Likely) benign	3 labs	abdb093640
15:65916538 SLC24A1 C>T	15	65916538	65916538	C	T	SLC24A1	c.120C>T	NM_004727.3	NP_004718.1:p.(His40=)	NC_000015.9:g.65916538C>T	(Likely) benign	2 labs	abe02db688
11:108117809 ATM C>A	11	108117809	108117809	C	A	ATM	c.1020C>A	NM_000051.4	NP_000042.3:p.(Ala340=)	NC_000011.9:g.108117809C>A	(Likely) benign	3 labs	abebb71916
2:167138313 SCN9A C>T	2	167138313	167138313	C	T	SCN9A	c.1947G>A	NM_002977.3	NP_002968.1:p.(Thr649=)	NC_000002.11:g.167138313C>T	(Likely) benign	2 labs	abf0a6bc6f
1:240370967 FMN2 C>G	1	240370967	240370967	C	G	FMN2	c.2867C>G	NM_001305424.2	NP_001292353.1:p.(Ala956Gly)	NC_000001.10:g.240370967C>G	(Likely) benign	2 labs	abf15530a6
17:42085150 NAGS T>C	17	42085150	42085150	T	C	NAGS	c.1451+9T>C	NM_153006.3	NP_694551.1:p.?	NC_000017.10:g.42085150T>C	(Likely) benign	2 labs	abf6e9a585
8:96259941 CFAP418 T>C	8	96259941	96259941	T	C	CFAP418	c.528A>G	NM_177965.4	NP_808880.1:p.(Thr176=)	NC_000008.10:g.96259941T>C	(Likely) benign	3 labs	abfbd00d34
8:11612842 GATA4 G>A	8	11612842	11612842	G	A	GATA4	c.1000+200G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11612842G>A	(Likely) benign	3 labs	ac1647b5f3
17:56296565 MKS1 G>A	17	56296565	56296565	G	A	MKS1	c.27C>T	NM_017777.4	NP_060247.2:p.(Asp9=)	NC_000017.10:g.56296565G>A	(Likely) benign	3 labs	ac1c930adb
2:179428581 TTN G>T	2	179428581	179428581	G	T	TTN	c.82278C>A	NM_001267550.2	NP_001254479.2:p.(Ala27426=)	NC_000002.11:g.179428581G>T	(Likely) benign	2 labs	ac26588905
11:108180885 ATM A>T	11	108180885	108180885	A	T	ATM	c.5763-2A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108180885A>T	(Likely) pathogenic	2 labs	ac2aa86f8e
6:80228475 LCA5 A>T	6	80228475	80228475	A	T	LCA5	c.137T>A	NM_181714.4	NP_859065.2:p.(Val46Asp)	NC_000006.11:g.80228475A>T	VUS	2 labs	ac4be8ddf9
X:71838564 PHKA1 T>C	X	71838564	71838564	T	C	PHKA1	c.2365A>G	NM_002637.4	NP_002628.2:p.(Met789Val)	NC_000023.10:g.71838564T>C	(Likely) benign	2 labs	ac335f3a38
11:47364865 MYBPC3 C>T	11	47364865	47364865	C	T	MYBPC3	c.1224-52G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364865C>T	(Likely) pathogenic	3 labs	ac51096874
17:41201130 BRCA1 A>G	17	41201130	41201130	A	G	BRCA1	c.5406+8T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41201130A>G	(Likely) benign	6 labs	ac3aca5bc9
11:1775021 CTSD T>C	11	1775021	1775021	T	C	CTSD	c.1071+12A>G	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1775021T>C	(Likely) benign	2 labs	ac4601f366
11:8123023 TUB T>G	11	8123023	8123023	T	G	TUB	c.1553-10T>G	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8123023T>G	(Likely) benign	2 labs	ac5187a4fd
3:8787220 CAV3 T>C	3	8787220	8787220	T	C	CAV3	c.123T>C	NM_033337.3	NP_203123.1:p.(Phe41=)	NC_000003.11:g.8787220T>C	(Likely) benign	3 labs	ac59750710
2:29443584 ALK G>T	2	29443584	29443584	G	T	ALK	c.3633C>A	NM_004304.5	NP_004295.2:p.(Thr1211=)	NC_000002.11:g.29443584G>T	(Likely) benign	2 labs	ac6313bf68
14:23855565 MYH6 C>T	14	23855565	23855565	C	T	MYH6	c.4918G>A	NM_002471.4	NP_002462.2:p.(Glu1640Lys)	NC_000014.8:g.23855565C>T	VUS	2 labs	ac668facd8
15:90176239 KIF7 T>TAGGGAGGG	15	90176239	90176256	T	TAGGGAGGG	KIF7	c.2719-20_2719-13dup	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176249_90176256dup	(Likely) benign	2 labs	ac6ced4b90
2:179650665 TTN G>A	2	179650665	179650665	G	A	TTN	c.2280C>T	NM_001267550.2	NP_001254479.2:p.(Val760=)	NC_000002.11:g.179650665G>A	(Likely) benign	2 labs	ac6f93045a
11:121491904 SORL1 A>G	11	121491904	121491904	A	G	SORL1	c.6021A>G	NM_003105.6	NP_003096.2:p.(Gln2007=)	NC_000011.9:g.121491904A>G	(Likely) benign	2 labs	ac7fb9af16
2:179598532 TTN T>C	2	179598532	179598532	T	C	TTN	c.15584A>G	NM_001267550.2	NP_001254479.2:p.(Glu5195Gly)	NC_000002.11:g.179598532T>C	(Likely) benign	4 labs	ac8f937bc8
2:179479245 TTN C>T	2	179479245	179479245	C	T	TTN	c.48996G>A	NM_001267550.2	NP_001254479.2:p.(Glu16332=)	NC_000002.11:g.179479245C>T	(Likely) benign	3 labs	ac91a12064
12:22063115 ABCC9 A>G	12	22063115	22063115	A	G	ABCC9	c.1296=	NM_005691.4	NP_005682.2:p.(Pro432=)	NC_000012.11:g.22063115A>G	(Likely) benign	5 labs	ac91a88b24
13:32911419 BRCA2 C>T	13	32911419	32911419	C	T	BRCA2	c.2927C>T	NM_000059.4	NP_000050.3:p.(Ser976Phe)	NC_000013.10:g.32911419C>T	(Likely) benign	3 labs	ac93631c6e
16:77355073 ADAMTS18 G>A	16	77355073	77355073	G	A	ADAMTS18	c.2190C>T	NM_199355.4	NP_955387.1:p.(Gly730=)	NC_000016.9:g.77355073G>A	(Likely) benign	2 labs	aca3a8a148
6:129371106 LAMA2 C>T	6	129371106	129371106	C	T	LAMA2	c.156C>T	NM_000426.4	NP_000417.3:p.(Ile52=)	NC_000006.11:g.129371106C>T	(Likely) benign	2 labs	aca49fa507
7:92123826 PEX1 C>T	7	92123826	92123826	C	T	PEX1	c.2277G>A	NM_001282678.2	NP_001269607.1:p.(Gln759=)	NC_000007.13:g.92123826C>T	(Likely) benign	2 labs	aca4eab402
4:1807889 FGFR3 A>G	4	1807889	1807889	A	G	FGFR3	c.1948A>G	NM_000142.5	NP_000133.1:p.(Lys650Glu)	NC_000004.11:g.1807889A>G	(Likely) pathogenic	4 labs	acab5a8a56
X:32662328 DMD T>A	X	32662328	32662328	T	A	DMD	c.883A>T	NM_004010.3	NP_004001.1:p.(Thr295Ser)	NC_000023.10:g.32662328T>A	(Likely) benign	4 labs	acab26a3c2
5:7885907 MTRR C>G	5	7885907	7885907	C	G	MTRR	c.997C>G	NM_002454.3	NP_002445.2:p.(Leu333Val)	NC_000005.9:g.7885907C>G	(Likely) benign	2 labs	acb7264b92
15:35084688 ACTC1 A>T	15	35084688	35084688	A	T	ACTC1	c.537T>A	NM_005159.5	NP_005150.1:p.(Arg179=)	NC_000015.9:g.35084688A>T	(Likely) benign	3 labs	acc4a430b5
4:103790293 CISD2 C>T	4	103790293	103790293	C	T	CISD2	c.52C>T	NM_001008388.5	NP_001008389.1:p.(Leu18=)	NC_000004.11:g.103790293C>T	(Likely) benign	3 labs	accc105f02
16:88498297 ZNF469 T>G	16	88498297	88498297	T	G	ZNF469	c.4419T>G	NM_001367624.2	NP_001354553.1:p.(Ser1473=)	NC_000016.9:g.88498297T>G	(Likely) benign	2 labs	accf66bf45
19:49705291 TRPM4 G>A	19	49705291	49705291	G	A	TRPM4	c.3024G>A	NM_017636.4	NP_060106.2:p.(Ala1008=)	NC_000019.9:g.49705291G>A	(Likely) benign	2 labs	acd3d7e130
2:179540430 TTN C>A	2	179540430	179540430	C	A	TTN	c.34505G>T	NM_001267550.2	NP_001254479.2:p.(Gly11502Val)	NC_000002.11:g.179540430C>A	(Likely) benign	2 labs	acd7c3ccdc
12:52306991 ACVRL1 G>A	12	52306991	52306991	G	A	ACVRL1	c.170G>A	NM_000020.3	NP_000011.2:p.(Arg57Gln)	NC_000012.11:g.52306991G>A	VUS	2 labs	ace65621aa
11:68206095 LRP5 G>A	11	68206095	68206095	G	A	LRP5	c.4293G>A	NM_002335.4	NP_002326.2:p.(Pro1431=)	NC_000011.9:g.68206095G>A	(Likely) benign	2 labs	ace0a7af3a
11:6638271 TPP1 G>A	11	6638271	6638271	G	A	TPP1	c.622C>T	NM_000391.4	NP_000382.3:p.(Arg208Ter)	NC_000011.9:g.6638271G>A	(Likely) pathogenic	4 labs	aceb211614
3:38921487 SCN11A T>C	3	38921487	38921487	T	C	SCN11A	c.3347A>G	NM_014139.3	NP_054858.2:p.(Lys1116Arg)	NC_000003.11:g.38921487T>C	VUS	2 labs	ace6abe5ac
11:68115364 LRP5 C>T	11	68115364	68115364	C	T	LRP5	c.141C>T	NM_002335.4	NP_002326.2:p.(Asp47=)	NC_000011.9:g.68115364C>T	(Likely) benign	2 labs	acee19fe8f
19:11230786 LDLR GAT>G	19	11230786	11230790	GAT	G	LDLR	c.1867_1868del	NM_000527.5	NP_000518.1:p.(Ile623HisfsTer21)	NC_000019.9:g.11230789_11230790del	(Likely) pathogenic	3 labs	acf2f34873
13:32910583 BRCA2 A>G	13	32910583	32910583	A	G	BRCA2	c.2091A>G	NM_000059.4	NP_000050.3:p.(Lys697=)	NC_000013.10:g.32910583A>G	(Likely) benign	5 labs	ad00a4bc11
3:38592019 SCN5A G>A	3	38592019	38592019	G	A	SCN5A	c.5844C>T	NM_001099404.2	NP_001092874.1:p.(Ile1948=)	NC_000003.11:g.38592019G>A	(Likely) benign	3 labs	ad054bb73f
2:179424807 TTN A>G	2	179424807	179424807	A	G	TTN	c.86052T>C	NM_001267550.2	NP_001254479.2:p.(Thr28684=)	NC_000002.11:g.179424807A>G	(Likely) benign	4 labs	ad18527633
6:64498113 EYS G>A	6	64498113	64498113	G	A	EYS	c.7608C>T	NM_001292009.2	NP_001278938.1:p.(Ile2536=)	NC_000006.11:g.64498113G>A	(Likely) benign	2 labs	ad1351a20c
10:94353216 KIF11 AGAG>A	10	94353216	94353220	AGAG	A	KIF11	c.77+9_77+11del	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94353218_94353220del	(Likely) benign	2 labs	ad254bf2f8
13:39264690 FREM2 T>C	13	39264690	39264690	T	C	FREM2	c.3209T>C	NM_207361.6	NP_997244.4:p.(Phe1070Ser)	NC_000013.10:g.39264690T>C	(Likely) benign	2 labs	ad294b3775
5:79950724 MSH3 G>GCCGCAGCGGCCGCAGCGC	5	79950724	79950733	G	GCCGCAGCGGCCGCAGCGC	MSH3	c.186_187insGCCGCAGCGCCCGCAGCG	NM_002439.5	NP_002430.3:p.(Ala62_Pro63insAlaAlaAlaProAlaAla)	NC_000005.9:g.79950732_79950733insGCCGCAGCGCCCGCAGCG	(Likely) benign	3 labs	ad2c75ed5a
3:58124019 FLNB C>T	3	58124019	58124019	C	T	FLNB	c.4965C>T	NM_001164317.2	NP_001157789.1:p.(Ile1655=)	NC_000003.11:g.58124019C>T	(Likely) benign	3 labs	ad2d23b90f
15:31318422 TRPM1 C>G	15	31318422	31318422	C	G	TRPM1	c.3600G>C	NM_001252020.2	NP_001238949.1:p.(Gln1200His)	NC_000015.9:g.31318422C>G	(Likely) benign	2 labs	ad38b56d7d
17:39919367 JUP G>A	17	39919367	39919367	G	A	JUP	c.1365C>T	NM_001352773.2	NP_001339702.1:p.(Ala455=)	NC_000017.10:g.39919367G>A	(Likely) benign	2 labs	ad3ff85d3c
5:127681122 FBN2 G>A	5	127681122	127681122	G	A	FBN2	c.3144C>T	NM_001999.4	NP_001990.2:p.(Tyr1048=)	NC_000005.9:g.127681122G>A	(Likely) benign	2 labs	ad42ee4bbe
4:184615071 TRAPPC11 A>C	4	184615071	184615071	A	C	TRAPPC11	c.2388A>C	NM_021942.6	NP_068761.4:p.(Gly796=)	NC_000004.11:g.184615071A>C	(Likely) benign	2 labs	ad4b07bc09
5:127613625 FBN2 C>A	5	127613625	127613625	C	A	FBN2	c.7418G>T	NM_001999.4	NP_001990.2:p.(Arg2473Leu)	NC_000005.9:g.127613625C>A	(Likely) benign	2 labs	ad4f231339
16:88800169 PIEZO1 G>A	16	88800169	88800169	G	A	PIEZO1	c.2330-16C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88800169G>A	(Likely) benign	2 labs	ad548835c6
16:2130387 TSC2 C>T	16	2130387	2130387	C	T	TSC2	c.3610+9C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2130387C>T	(Likely) benign	2 labs	ad54a26ba9
13:32906571 BRCA2 A>C	13	32906571	32906571	A	C	BRCA2	c.956A>C	NM_000059.4	NP_000050.3:p.(Asn319Thr)	NC_000013.10:g.32906571A>C	(Likely) benign	3 labs	ad554d62b6
16:88874632 CDT1 C>G	16	88874632	88874632	C	G	CDT1	c.1587C>G	NM_030928.4	NP_112190.2:p.(Leu529=)	NC_000016.9:g.88874632C>G	(Likely) benign	2 labs	ad6078e7bd
5:90106906 ADGRV1 C>T	5	90106906	90106906	C	T	ADGRV1	c.15829C>T	NM_032119.4	NP_115495.3:p.(Arg5277Cys)	NC_000005.9:g.90106906C>T	(Likely) benign	2 labs	ad6b839d25
1:26392929 TRIM63 A>C	1	26392929	26392929	A	C	TRIM63	c.162T>G	NM_032588.4	NP_115977.2:p.(Ala54=)	NC_000001.10:g.26392929A>C	(Likely) benign	2 labs	ad6db12656
16:16315546 ABCC6 C>T	16	16315546	16315546	C	T	ABCC6	c.179G>A	NM_001171.6	NP_001162.5:p.(Arg60Gln)	NC_000016.9:g.16315546C>T	(Likely) benign	2 labs	ad740f476a
1:202568484 SYT2 G>A	1	202568484	202568484	G	A	SYT2	c.920-5C>T	NM_001136504.1	NP_001129976.1:p.?	NC_000001.10:g.202568484G>A	(Likely) benign	2 labs	ad78f6d890
6:112522899 LAMA4 G>A	6	112522899	112522899	G	A	LAMA4	c.423-10C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112522899G>A	(Likely) benign	4 labs	ad7cda31bf
10:121429563 BAG3 A>T	10	121429563	121429563	A	T	BAG3	c.381A>T	NM_004281.4	NP_004272.2:p.(Ala127=)	NC_000010.10:g.121429563A>T	(Likely) benign	2 labs	ad7d20410c
17:56439930 RNF43 C>T	17	56439930	56439930	C	T	RNF43	c.662G>A	NM_017763.6	NP_060233.3:p.(Arg221Gln)	NC_000017.10:g.56439930C>T	(Likely) benign	3 labs	ad8b455a23
3:193384956 OPA1 CAGTT>C	3	193384956	193384962	CAGTT	C	OPA1	c.2873_2876del	NM_130837.3	NP_570850.2:p.(Val958GlyfsTer3)	NC_000003.11:g.193384959_193384962del	(Likely) pathogenic	2 labs	ad8f03025d
2:179471884 TTN T>C	2	179471884	179471884	T	C	TTN	c.53445A>G	NM_001267550.2	NP_001254479.2:p.(Ile17815Met)	NC_000002.11:g.179471884T>C	VUS	3 labs	ad9056a6ab
7:128480981 FLNC C>T	7	128480981	128480981	C	T	FLNC	c.1770C>T	NM_001458.5	NP_001449.3:p.(Ala590=)	NC_000007.13:g.128480981C>T	(Likely) benign	2 labs	ad956009d4
1:216243451 USH2A T>G	1	216243451	216243451	T	G	USH2A	c.6041A>C	NM_206933.4	NP_996816.3:p.(Asn2014Thr)	NC_000001.10:g.216243451T>G	(Likely) benign	2 labs	ad96d08edf
14:23894565 MYH7 G>A	14	23894565	23894565	G	A	MYH7	c.2349C>T	NM_000257.4	NP_000248.2:p.(Arg783=)	NC_000014.8:g.23894565G>A	(Likely) benign	3 labs	ada1fa77ea
7:91660873 AKAP9 G>A	7	91660873	91660873	G	A	AKAP9	c.4293G>A	NM_005751.5	NP_005742.4:p.(Leu1431=)	NC_000007.13:g.91660873G>A	(Likely) benign	4 labs	ada3b3e21c
5:45695972 HCN1 TCGCCGC>T	5	45695972	45695994	TCGCCGC	T	HCN1	c.218_223del	NM_021072.4	NP_066550.2:p.(Gly73_Gly74del)	NC_000005.9:g.45695989_45695994del	(Likely) benign	4 labs	ada660df64
3:57232493 HESX1 C>T	3	57232493	57232493	C	T	HESX1	c.385G>A	NM_001376061.1	NP_001362990.1:p.(Val129Ile)	NC_000003.11:g.57232493C>T	(Likely) benign	2 labs	adae5500f1
X:152770200 BGN C>T	X	152770200	152770200	C	T	BGN	c.111C>T	NM_001711.6	NP_001702.1:p.(Asn37=)	NC_000023.10:g.152770200C>T	(Likely) benign	3 labs	adb2bb9306
9:139405091 NOTCH1 G>A	9	139405091	139405091	G	A	NOTCH1	c.2740+14C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405091G>A	(Likely) benign	2 labs	adb30dd04c
8:94770767 TMEM67 C>T	8	94770767	94770767	C	T	TMEM67	c.369C>T	NM_153704.6	NP_714915.3:p.(Ala123=)	NC_000008.10:g.94770767C>T	(Likely) benign	2 labs	adb50d1f43
7:117232642 CFTR A>G	7	117232642	117232642	A	G	CFTR	c.2421A>G	NM_000492.4	NP_000483.3:p.(Ile807Met)	NC_000007.13:g.117232642A>G	(Likely) benign	3 labs	adba72d0ff
15:52688546 MYO5A A>G	15	52688546	52688546	A	G	MYO5A	c.1440T>C	NM_001382348.1	NP_001369277.1:p.(Tyr480=)	NC_000015.9:g.52688546A>G	(Likely) benign	2 labs	adc863d56c
12:8995756 A2ML1 A>G	12	8995756	8995756	A	G	A2ML1	c.1275A>G	NM_144670.6	NP_653271.3:p.(Val425=)	NC_000012.11:g.8995756A>G	(Likely) benign	2 labs	add4a9c692
2:15470769 NBAS C>T	2	15470769	15470769	C	T	NBAS	c.4300G>A	NM_015909.4	NP_056993.2:p.(Asp1434Asn)	NC_000002.11:g.15470769C>T	VUS	2 labs	ade10ec090
2:179579038 TTN G>A	2	179579038	179579038	G	A	TTN	c.26463C>T	NM_001267550.2	NP_001254479.2:p.(Phe8821=)	NC_000002.11:g.179579038G>A	(Likely) benign	2 labs	ade3a7f147
11:34978999 PDHX T>C	11	34978999	34978999	T	C	PDHX	c.411T>C	NM_003477.3	NP_003468.2:p.(Asp137=)	NC_000011.9:g.34978999T>C	(Likely) benign	2 labs	ade3dcc26d
20:32031267 SNTA1 C>G	20	32031267	32031267	C	G	SNTA1	c.160G>C	NM_003098.3	NP_003089.1:p.(Gly54Arg)	NC_000020.10:g.32031267C>G	VUS	2 labs	ade6d90767
5:1266590 TERT T>C	5	1266590	1266590	T	C	TERT	c.2643A>G	NM_198253.3	NP_937983.2:p.(Lys881=)	NC_000005.9:g.1266590T>C	(Likely) benign	2 labs	adf73c40a3
17:7577577 TP53 T>C	17	7577577	7577577	T	C	TP53	c.704A>G	NM_000546.6	NP_000537.3:p.(Asn235Ser)	NC_000017.10:g.7577577T>C	(Likely) benign	2 labs	adf9578646
1:103470191 COL11A1 T>C	1	103470191	103470191	T	C	COL11A1	c.1908A>G	NM_080629.3	NP_542196.2:p.(Pro636=)	NC_000001.10:g.103470191T>C	(Likely) benign	2 labs	adfeb5a8e7
X:152773821 BGN T>A	X	152773821	152773821	T	A	BGN	c.1025T>A	NM_001711.6	NP_001702.1:p.(Val342Glu)	NC_000023.10:g.152773821T>A	VUS	2 labs	ae04814ab3
16:56536740 BBS2 T>C	16	56536740	56536740	T	C	BBS2	c.805-20A>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56536740T>C	(Likely) benign	3 labs	ae0eceb760
15:48779599 FBN1 G>A	15	48779599	48779599	G	A	FBN1	c.3373C>T	NM_000138.5	NP_000129.3:p.(Arg1125Ter)	NC_000015.9:g.48779599G>A	(Likely) pathogenic	2 labs	ae389eec6a
10:73406450 CDH23 C>A	10	73406450	73406450	C	A	CDH23	c.1525C>A	NM_052836.4	NP_443068.1:p.(Pro509Thr)	NC_000010.10:g.73406450C>A	(Likely) benign	2 labs	ae3a7ca0f4
18:29104717 DSG2 A>G	18	29104717	29104717	A	G	DSG2	c.880A>G	NM_001943.5	NP_001934.2:p.(Lys294Glu)	NC_000018.9:g.29104717A>G	VUS	5 labs	ae45d1d4be
7:91652178 AKAP9 A>AAAC	7	91652178	91652181	A	AAAC	AKAP9	c.4004_4006dup	NM_005751.5	NP_005742.4:p.(Lys1335_Leu1336insGln)	NC_000007.13:g.91652179_91652181dup	(Likely) benign	2 labs	ae50dac5d7
2:47637337 MSH2 C>A	2	47637337	47637337	C	A	MSH2	c.471C>A	NM_000251.3	NP_000242.1:p.(Gly157=)	NC_000002.11:g.47637337C>A	(Likely) benign	3 labs	ae4c1d909c
7:138524956 KIAA1549 G>T	7	138524956	138524956	G	T	KIAA1549	c.5520C>A	NM_001164665.2	NP_001158137.1:p.(Ile1840=)	NC_000007.13:g.138524956G>T	(Likely) benign	2 labs	ae5057314c
13:32907081 BRCA2 C>G	13	32907081	32907081	C	G	BRCA2	c.1466C>G	NM_000059.4	NP_000050.3:p.(Ser489Cys)	NC_000013.10:g.32907081C>G	(Likely) benign	2 labs	ae53179ef6
6:152615200 SYNE1 G>A	6	152615200	152615200	G	A	SYNE1	c.17745C>T	NM_182961.4	NP_892006.3:p.(His5915=)	NC_000006.11:g.152615200G>A	(Likely) benign	3 labs	ae5528454a
9:135204769 SETX C>T	9	135204769	135204769	C	T	SETX	c.2216G>A	NM_015046.7	NP_055861.3:p.(Gly739Glu)	NC_000009.11:g.135204769C>T	(Likely) benign	3 labs	ae6d20cee4
4:114254240 ANK2 G>T	4	114254240	114254240	G	T	ANK2	c.3255G>T	NM_001148.6	NP_001139.3:p.(Ala1085=)	NC_000004.11:g.114254240G>T	(Likely) benign	2 labs	ae6f16c043
19:39071080 RYR1 G>A	19	39071080	39071080	G	A	RYR1	c.14582G>A	NM_000540.3	NP_000531.2:p.(Arg4861His)	NC_000019.9:g.39071080G>A	(Likely) pathogenic	2 labs	ae877a79a8
X:66765158 AR TGCAGCA>T	X	66765158	66765227	TGCAGCA	T	AR	c.234_239del	NM_000044.6	NP_000035.2:p.(Gln79_Gln80del)	NC_000023.10:g.66765222_66765227del	(Likely) benign	3 labs	ae6faf84b5
16:88495913 ZNF469 G>A	16	88495913	88495913	G	A	ZNF469	c.2035G>A	NM_001367624.2	NP_001354553.1:p.(Glu679Lys)	NC_000016.9:g.88495913G>A	(Likely) benign	2 labs	ae807d5850
2:179396184 TTN A>G	2	179396184	179396184	A	G	TTN	c.105158T>C	NM_001267550.2	NP_001254479.2:p.(Phe35053Ser)	NC_000002.11:g.179396184A>G	VUS	3 labs	ae8501b185
2:96943442 SNRNP200 G>A	2	96943442	96943442	G	A	SNRNP200	c.5766C>T	NM_014014.5	NP_054733.2:p.(Leu1922=)	NC_000002.11:g.96943442G>A	(Likely) benign	2 labs	ae88e8482c
16:16291953 ABCC6 G>A	16	16291953	16291953	G	A	ABCC6	c.1263C>T	NM_001171.6	NP_001162.5:p.(Thr421=)	NC_000016.9:g.16291953G>A	(Likely) benign	2 labs	ae89223d40
5:89854743 ADGRV1 T>C	5	89854743	89854743	T	C	ADGRV1	c.22+9T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89854743T>C	(Likely) benign	3 labs	ae9adee720
17:41234404 BRCA1 T>C	17	41234404	41234404	T	C	BRCA1	c.4357+17A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41234404T>C	(Likely) benign	4 labs	aea7041487
2:179435894 TTN C>T	2	179435894	179435894	C	T	TTN	c.74965G>A	NM_001267550.2	NP_001254479.2:p.(Val24989Met)	NC_000002.11:g.179435894C>T	(Likely) benign	2 labs	aeabf24079
14:74976452 LTBP2 C>T	14	74976452	74976452	C	T	LTBP2	c.3262G>A	NM_000428.3	NP_000419.1:p.(Gly1088Ser)	NC_000014.8:g.74976452C>T	(Likely) benign	2 labs	aead88e1ac
19:13318672 CACNA1A CCTGCTGCTGCTG>C	19	13318672	13318712	CCTGCTGCTGCTG	C	CACNA1A	c.6964_6975del	NM_001127222.2	NP_001120694.1:p.(Gln2322_Gln2325del)	NC_000019.9:g.13318701_13318712del	(Likely) benign	3 labs	aeb2478ec9
12:987533 WNK1 CT>C	12	987533	987548	CT	C	WNK1	c.3612+21del	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.987548del	(Likely) benign	2 labs	aeb3bce5ed
6:41129295 TREM2 G>A	6	41129295	41129295	G	A	TREM2	c.97C>T	NM_018965.4	NP_061838.1:p.(Gln33Ter)	NC_000006.11:g.41129295G>A	(Likely) pathogenic	2 labs	aeb5eaedc0
9:107573101 ABCA1 G>A	9	107573101	107573101	G	A	ABCA1	c.4155C>T	NM_005502.4	NP_005493.2:p.(Asn1385=)	NC_000009.11:g.107573101G>A	(Likely) benign	2 labs	aebb333e65
8:10468483 RP1L1 A>T	8	10468483	10468483	A	T	RP1L1	c.3125T>A	NM_178857.6	NP_849188.4:p.(Val1042Asp)	NC_000008.10:g.10468483A>T	(Likely) benign	2 labs	aebba9cfec
1:186008856 HMCN1 T>C	1	186008856	186008856	T	C	HMCN1	c.6029-4T>C	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186008856T>C	(Likely) benign	3 labs	aec1c6a525
3:123368050 MYLK G>C	3	123368050	123368050	G	C	MYLK	c.4289-9C>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123368050G>C	(Likely) benign	2 labs	aec62381c2
3:38770198 SCN10A T>G	3	38770198	38770198	T	G	SCN10A	c.2475A>C	NM_006514.4	NP_006505.4:p.(Glu825Asp)	NC_000003.11:g.38770198T>G	(Likely) benign	3 labs	aece63f337
X:153593041 FLNA G>A	X	153593041	153593041	G	A	FLNA	c.1875C>T	NM_001110556.2	NP_001104026.1:p.(Asp625=)	NC_000023.10:g.153593041G>A	(Likely) benign	3 labs	aee5e85fdb
4:126238305 FAT4 C>A	4	126238305	126238305	C	A	FAT4	c.739C>A	NM_001291303.3	NP_001278232.1:p.(Pro247Thr)	NC_000004.11:g.126238305C>A	(Likely) benign	4 labs	aeecb10989
2:202619413 ALS2 TG>T	2	202619413	202619417	TG	T	ALS2	c.1472-20del	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202619417del	(Likely) benign	2 labs	aefe0a000c
2:179495607 TTN CG>C	2	179495607	179495608	CG	C	TTN	c.44077del	NM_001267550.2	NP_001254479.2:p.(Arg14693AlafsTer71)	NC_000002.11:g.179495608del	(Likely) pathogenic	3 labs	af01db3f7b
2:179409071 TTN T>A	2	179409071	179409071	T	A	TTN	c.95885A>T	NM_001267550.2	NP_001254479.2:p.(Asn31962Ile)	NC_000002.11:g.179409071T>A	VUS	3 labs	af090b5633
2:73761991 ALMS1 C>G	2	73761991	73761991	C	G	ALMS1	c.9825C>G	NM_015120.4	NP_055935.4:p.(Thr3275=)	NC_000002.11:g.73761991C>G	(Likely) benign	3 labs	af1092c63e
9:135176199 SETX CAAG>C	9	135176199	135176208	CAAG	C	SETX	c.5375-12_5375-10del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135176206_135176208del	(Likely) benign	2 labs	af13981e6a
16:15826415 MYH11 CA>C	16	15826415	15826416	CA	C	MYH11	c.3672+5del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15826416del	(Likely) benign	2 labs	af187e6bd1
7:6029429 PMS2 A>T	7	6029429	6029429	A	T	PMS2	c.1144+2T>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6029429A>T	(Likely) pathogenic	2 labs	af1a6db88a
19:10870499 DNM2 C>A	19	10870499	10870499	C	A	DNM2	c.235+12C>A	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10870499C>A	(Likely) benign	3 labs	af27c68142
2:179588159 TTN C>T	2	179588159	179588159	C	T	TTN	c.21668G>A	NM_001267550.2	NP_001254479.2:p.(Arg7223His)	NC_000002.11:g.179588159C>T	(Likely) benign	5 labs	af371a01af
9:139391414 NOTCH1 A>G	9	139391414	139391414	A	G	NOTCH1	c.6777T>C	NM_017617.5	NP_060087.3:p.(Gly2259=)	NC_000009.11:g.139391414A>G	(Likely) benign	2 labs	af30592a78
10:75854219 VCL G>A	10	75854219	75854219	G	A	VCL	c.1543G>A	NM_014000.3	NP_054706.1:p.(Gly515Ser)	NC_000010.10:g.75854219G>A	VUS	2 labs	af38bd6285
1:173825898 DARS2 T>G	1	173825898	173825898	T	G	DARS2	c.1750+19T>G	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173825898T>G	(Likely) benign	2 labs	af3caf9db3
X:77301080 ATP7A T>C	X	77301080	77301080	T	C	ATP7A	c.4226+11T>C	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77301080T>C	(Likely) benign	2 labs	af41950f03
17:29663898 NF1 C>T	17	29663898	29663898	C	T	NF1	c.6393C>T	NM_001042492.3	NP_001035957.1:p.(His2131=)	NC_000017.10:g.29663898C>T	(Likely) benign	2 labs	af456864fa
10:71158441 HK1 G>T	10	71158441	71158441	G	T	HK1	c.2430G>T	NM_033500.2	NP_277035.2:p.(Val810=)	NC_000010.10:g.71158441G>T	(Likely) benign	2 labs	af4e7fb0fc
15:44881546 SPG11 A>G	15	44881546	44881546	A	G	SPG11	c.4810T>C	NM_025137.4	NP_079413.3:p.(Phe1604Leu)	NC_000015.9:g.44881546A>G	(Likely) benign	4 labs	af5170eb14
11:73753268 C2CD3 CA>C	11	73753268	73753287	CA	C	C2CD3	c.5496-6del	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73753287del	(Likely) benign	2 labs	af564503fe
11:18303609 HPS5 T>C	11	18303609	18303609	T	C	HPS5	c.3217A>G	NM_181507.2	NP_852608.1:p.(Met1073Val)	NC_000011.9:g.18303609T>C	(Likely) benign	2 labs	af597c6fc9
X:110987996 ALG13 A>ACCT	X	110987996	110988035	A	ACCT	ALG13	c.2599_2601dup	NM_001257231.2	NP_001244160.1:p.(Pro867dup)	NC_000023.10:g.110988033_110988035dup	(Likely) benign	3 labs	af75be5a27
16:31195186 FUS T>C	16	31195186	31195186	T	C	FUS	c.198T>C	NM_004960.4	NP_004951.1:p.(Tyr66=)	NC_000016.9:g.31195186T>C	(Likely) benign	2 labs	af7b2d750d
11:108115673 ATM CT>C	11	108115673	108115676	CT	C	ATM	c.824del	NM_000051.4	NP_000042.3:p.(Leu275Ter)	NC_000011.9:g.108115676del	(Likely) pathogenic	3 labs	af7c17140b
19:12917520 RNASEH2A A>G	19	12917520	12917520	A	G	RNASEH2A	c.33A>G	NM_006397.3	NP_006388.2:p.(Thr11=)	NC_000019.9:g.12917520A>G	(Likely) benign	4 labs	af7cbd7f54
2:47641559 MSH2 TAAAAAAAAAA>T	2	47641559	47641586	TAAAAAAAAAA	T	MSH2	c.942+20_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641577_47641586del	(Likely) benign	2 labs	af8434b0af
3:30713674 TGFBR2 A>G	3	30713674	30713674	A	G	TGFBR2	c.1074A>G	NM_001024847.2	NP_001020018.1:p.(Leu358=)	NC_000003.11:g.30713674A>G	(Likely) benign	3 labs	af8a2f0898
19:55667578 TNNI3 C>T	19	55667578	55667578	C	T	TNNI3	c.273G>A	NM_000363.5	NP_000354.4:p.(Ala91=)	NC_000019.9:g.55667578C>T	(Likely) benign	3 labs	af8be0960d
X:70613911 TAF1 T>C	X	70613911	70613911	T	C	TAF1	c.3228-6T>C	NM_001286074.2	NP_001273003.2:p.?	NC_000023.10:g.70613911T>C	(Likely) benign	3 labs	af8f9cf834
3:14183232 TMEM43 C>T	3	14183232	14183232	C	T	TMEM43	c.1140C>T	NM_024334.3	NP_077310.1:p.(Ala380=)	NC_000003.11:g.14183232C>T	(Likely) benign	3 labs	afa2eb1670
2:179485851 TTN T>A	2	179485851	179485851	T	A	TTN	c.45594A>T	NM_001267550.2	NP_001254479.2:p.(Ala15198=)	NC_000002.11:g.179485851T>A	(Likely) benign	4 labs	afa546de6b
7:95751230 SLC25A13 G>A	7	95751230	95751230	G	A	SLC25A13	c.1671C>T	NM_014251.3	NP_055066.1:p.(Thr557=)	NC_000007.13:g.95751230G>A	(Likely) benign	2 labs	afb8fc2b19
9:139405261 NOTCH1 C>T	9	139405261	139405261	C	T	NOTCH1	c.2588-4G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405261C>T	(Likely) benign	3 labs	afbd9abd99
X:39934191 BCOR G>A	X	39934191	39934191	G	A	BCOR	c.408C>T	NM_001123385.2	NP_001116857.1:p.(Ala136=)	NC_000023.10:g.39934191G>A	(Likely) benign	2 labs	afc9fabd3b
16:49669787 ZNF423 G>A	16	49669787	49669787	G	A	ZNF423	c.3096C>T	NM_001271620.2	NP_001258549.1:p.(Cys1032=)	NC_000016.9:g.49669787G>A	(Likely) benign	3 labs	afcf0fb71a
3:133692497 SLCO2A1 A>G	3	133692497	133692497	A	G	SLCO2A1	c.397+10T>C	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133692497A>G	(Likely) benign	3 labs	afe9c23848
2:96955677 SNRNP200 T>C	2	96955677	96955677	T	C	SNRNP200	c.2800A>G	NM_014014.5	NP_054733.2:p.(Thr934Ala)	NC_000002.11:g.96955677T>C	(Likely) benign	2 labs	afeb5a8d78
18:21153469 NPC1 C>T	18	21153469	21153469	C	T	NPC1	c.127G>A	NM_000271.5	NP_000262.2:p.(Glu43Lys)	NC_000018.9:g.21153469C>T	(Likely) benign	2 labs	afee825cf1
3:38936426 SCN11A G>C	3	38936426	38936426	G	C	SCN11A	c.2433C>G	NM_014139.3	NP_054858.2:p.(Leu811=)	NC_000003.11:g.38936426G>C	(Likely) benign	2 labs	aff3a5845b
2:179579093 TTN T>C	2	179579093	179579093	T	C	TTN	c.26408A>G	NM_001267550.2	NP_001254479.2:p.(Asn8803Ser)	NC_000002.11:g.179579093T>C	(Likely) benign	2 labs	aff54d1807
16:56518760 BBS2 C>T	16	56518760	56518760	C	T	BBS2	c.2079G>A	NM_031885.5	NP_114091.4:p.(Gln693=)	NC_000016.9:g.56518760C>T	(Likely) benign	2 labs	aff699abd0
2:179430844 TTN T>C	2	179430844	179430844	T	C	TTN	c.72311A>G	NM_133378.4	NP_596869.4:p.(Lys24104Arg)	NC_000002.11:g.179430844T>C	VUS	2 labs	b003a6c94b
2:179458002 TTN G>A	2	179458002	179458002	G	A	TTN	c.58933C>T	NM_001267550.2	NP_001254479.2:p.(Leu19645=)	NC_000002.11:g.179458002G>A	(Likely) benign	4 labs	b004219983
19:50771609 MYH14 G>A	19	50771609	50771609	G	A	MYH14	c.3018G>A	NM_001145809.2	NP_001139281.1:p.(Leu1006=)	NC_000019.9:g.50771609G>A	(Likely) benign	2 labs	b013cfa8ce
14:23855711 MYH6 T>C	14	23855711	23855711	T	C	MYH6	c.4772A>G	NM_002471.4	NP_002462.2:p.(Asn1591Ser)	NC_000014.8:g.23855711T>C	VUS	2 labs	b0147d93a8
7:81746495 CACNA2D1 T>C	7	81746495	81746495	T	C	CACNA2D1	c.397-6A>G	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81746495T>C	(Likely) benign	2 labs	b015f14554
X:41333950 NYX G>A	X	41333950	41333950	G	A	NYX	c.1244G>A	NM_022567.2	NP_072089.1:p.(Ser415Asn)	NC_000023.10:g.41333950G>A	(Likely) benign	2 labs	b02e620b90
11:68207354 LRP5 G>T	11	68207354	68207354	G	T	LRP5	c.4458G>T	NM_002335.4	NP_002326.2:p.(Ser1486=)	NC_000011.9:g.68207354G>T	(Likely) benign	2 labs	b0326903a9
2:179482699 TTN G>A	2	179482699	179482699	G	A	TTN	c.47379C>T	NM_001267550.2	NP_001254479.2:p.(Tyr15793=)	NC_000002.11:g.179482699G>A	(Likely) benign	2 labs	b045bc3569
17:72916094 USH1G G>C	17	72916094	72916094	G	C	USH1G	c.837C>G	NM_173477.5	NP_775748.2:p.(Asp279Glu)	NC_000017.10:g.72916094G>C	VUS	2 labs	b0463f6b07
4:15504463 CC2D2A T>C	4	15504463	15504463	T	C	CC2D2A	c.355T>C	NM_001080522.2	NP_001073991.2:p.(Leu119=)	NC_000004.11:g.15504463T>C	(Likely) benign	3 labs	b04fa45211
1:201009066 CACNA1S G>A	1	201009066	201009066	G	A	CACNA1S	c.5515C>T	NM_000069.3	NP_000060.2:p.(Pro1839Ser)	NC_000001.10:g.201009066G>A	(Likely) benign	4 labs	b05199146d
2:179446292 TTN C>T	2	179446292	179446292	C	T	TTN	c.66703G>A	NM_001267550.2	NP_001254479.2:p.(Val22235Ile)	NC_000002.11:g.179446292C>T	VUS	2 labs	b051a21da2
13:32912164 BRCA2 C>T	13	32912164	32912164	C	T	BRCA2	c.3672C>T	NM_000059.4	NP_000050.3:p.(Gly1224=)	NC_000013.10:g.32912164C>T	(Likely) benign	2 labs	b054ae148c
9:34637690 SIGMAR1 T>G	9	34637690	34637690	T	G	SIGMAR1	c.5A>C	NM_001282208.2	NP_001269137.1:p.(Gln2Pro)	NC_000009.11:g.34637690T>G	(Likely) benign	2 labs	b0586ee4e9
16:15931810 MYH11 G>A	16	15931810	15931810	G	A	MYH11	c.300C>T	NM_001040113.2	NP_001035202.1:p.(Ser100=)	NC_000016.9:g.15931810G>A	(Likely) benign	3 labs	b05b8231ee
2:74598723 DCTN1 T>C	2	74598723	74598723	T	C	DCTN1	c.586A>G	NM_004082.5	NP_004073.2:p.(Ile196Val)	NC_000002.11:g.74598723T>C	(Likely) benign	3 labs	b05bd1f038
16:89999994 TUBB3 C>T	16	89999994	89999994	C	T	TUBB3	c.61+8C>T	NM_001197181.2	NP_001184110.1:p.?	NC_000016.9:g.89999994C>T	(Likely) benign	2 labs	b05c26b7b3
19:45412241 APOE G>A	19	45412241	45412241	G	A	APOE	c.766G>A	NM_001302688.2	NP_001289617.1:p.(Glu256Lys)	NC_000019.9:g.45412241G>A	VUS	2 labs	b064c91484
15:48782174 FBN1 C>T	15	48782174	48782174	C	T	FBN1	c.2956G>A	NM_000138.5	NP_000129.3:p.(Ala986Thr)	NC_000015.9:g.48782174C>T	(Likely) benign	3 labs	b066f10583
2:219677282 CYP27A1 C>T	2	219677282	219677282	C	T	CYP27A1	c.654C>T	NM_000784.4	NP_000775.1:p.(Cys218=)	NC_000002.11:g.219677282C>T	(Likely) benign	2 labs	b06dfd12be
10:112404334 RBM20 T>TGCA	10	112404334	112404342	T	TGCA	RBM20	c.128_130dup	NM_001134363.3	NP_001127835.2:p.(Gln43dup)	NC_000010.10:g.112404340_112404342dup	(Likely) benign	3 labs	b0751199cb
5:58453162 PDE4D G>A	5	58453162	58453162	G	A	PDE4D	c.644C>T	NM_001364602.2	NP_001351531.1:p.(Thr215Met)	NC_000005.9:g.58453162G>A	(Likely) benign	2 labs	b08f0688fb
17:41249323 BRCA1 C>A	17	41249323	41249323	C	A	BRCA1	c.548-17G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249323C>A	(Likely) benign	6 labs	b07b0dfea4
1:156096691 LMNA A>G	1	156096691	156096691	A	G	LMNA	c.98A>G	NM_001282624.2	NP_001269553.1:p.(Lys33Arg)	NC_000001.10:g.156096691A>G	(Likely) benign	3 labs	b0847e66da
10:92678727 ANKRD1 C>T	10	92678727	92678727	C	T	ANKRD1	c.348G>A	NM_014391.3	NP_055206.2:p.(Thr116=)	NC_000010.10:g.92678727C>T	(Likely) benign	3 labs	b09150daba
17:48267207 COL1A1 G>A	17	48267207	48267207	G	A	COL1A1	c.2613+13C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267207G>A	(Likely) benign	2 labs	b093142dfe
1:19549251 EMC1 G>A	1	19549251	19549251	G	A	EMC1	c.2454C>T	NM_015047.3	NP_055862.1:p.(Asn818=)	NC_000001.10:g.19549251G>A	(Likely) benign	2 labs	b0939da250
15:85401331 ALPK3 A>G	15	85401331	85401331	A	G	ALPK3	c.3362A>G	NM_020778.5	NP_065829.4:p.(Gln1121Arg)	NC_000015.9:g.85401331A>G	(Likely) benign	2 labs	b096749657
9:79825586 VPS13A A>G	9	79825586	79825586	A	G	VPS13A	c.550A>G	NM_033305.3	NP_150648.2:p.(Met184Val)	NC_000009.11:g.79825586A>G	(Likely) benign	2 labs	b09d805ac6
6:16327903 ATXN1 C>CTGA	6	16327903	16327906	C	CTGA	ATXN1	c.638_639insTCA	NM_000332.3	NP_000323.2:p.(Gln212_Gln213insHis)	NC_000006.11:g.16327905_16327906insATG	(Likely) benign	2 labs	b0a00e377d
15:35083508 ACTC1 TCACA>T	15	35083508	35083554	TCACA	T	ACTC1	c.809-16_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083551_35083554del	(Likely) benign	2 labs	b0a5c4d35a
15:73615603 HCN4 G>A	15	73615603	73615603	G	A	HCN4	c.2831C>T	NM_005477.3	NP_005468.1:p.(Ala944Val)	NC_000015.9:g.73615603G>A	(Likely) benign	2 labs	b0a9922334
2:179640716 TTN A>T	2	179640716	179640716	A	T	TTN	c.5875T>A	NM_001267550.2	NP_001254479.2:p.(Phe1959Ile)	NC_000002.11:g.179640716A>T	(Likely) benign	3 labs	b0a9a4b469
2:179578108 TTN T>TACAATACAAA	2	179578108	179578113	T	TACAATACAAA	TTN	c.26762-10_26762-9insTTTGTATTGT	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578112_179578113insTACAAAACAA	(Likely) benign	3 labs	b0c5a8fe8b
1:78395146 NEXN T>C	1	78395146	78395146	T	C	NEXN	c.1010T>C	NM_144573.4	NP_653174.3:p.(Ile337Thr)	NC_000001.10:g.78395146T>C	VUS	2 labs	b0c8f5d85d
12:110246277 TRPV4 G>A	12	110246277	110246277	G	A	TRPV4	c.387-4C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110246277G>A	(Likely) benign	2 labs	b0cccfecbd
2:179474034 TTN G>A	2	179474034	179474034	G	A	TTN	c.52003C>T	NM_001267550.2	NP_001254479.2:p.(Arg17335Cys)	NC_000002.11:g.179474034G>A	VUS	2 labs	b0ce701a1d
1:94546152 ABCA4 G>A	1	94546152	94546152	G	A	ABCA4	c.981C>T	NM_000350.3	NP_000341.2:p.(Pro327=)	NC_000001.10:g.94546152G>A	(Likely) benign	2 labs	b0cf779b38
6:35474045 TULP1 A>G	6	35474045	35474045	A	G	TULP1	c.828+6T>C	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35474045A>G	VUS	2 labs	b0d10dfc17
2:179438139 TTN A>G	2	179438139	179438139	A	G	TTN	c.72720T>C	NM_001267550.2	NP_001254479.2:p.(Val24240=)	NC_000002.11:g.179438139A>G	(Likely) benign	3 labs	b0d700225c
7:128478704 FLNC C>T	7	128478704	128478704	C	T	FLNC	c.1258C>T	NM_001458.5	NP_001449.3:p.(Arg420Trp)	NC_000007.13:g.128478704C>T	VUS	2 labs	b0da5ce79c
16:89347184 ANKRD11 G>A	16	89347184	89347184	G	A	ANKRD11	c.5766C>T	NM_001256182.2	NP_001243111.1:p.(Ala1922=)	NC_000016.9:g.89347184G>A	(Likely) benign	2 labs	b0dd51aca1
3:38766675 SCN10A A>G	3	38766675	38766675	A	G	SCN10A	c.3218T>C	NM_006514.4	NP_006505.4:p.(Val1073Ala)	NC_000003.11:g.38766675A>G	(Likely) benign	2 labs	b0edff7eeb
5:150897290 FAT2 C>T	5	150897290	150897290	C	T	FAT2	c.11354G>A	NM_001447.3	NP_001438.1:p.(Arg3785Gln)	NC_000005.9:g.150897290C>T	(Likely) benign	2 labs	b0faea1eaa
2:239237368 TRAF3IP1 G>C	2	239237368	239237368	G	C	TRAF3IP1	c.396G>C	NM_015650.4	NP_056465.2:p.(Glu132Asp)	NC_000002.11:g.239237368G>C	(Likely) benign	2 labs	b0fb6cfa6f
2:44053599 ABCG5 G>A	2	44053599	44053599	G	A	ABCG5	c.696C>T	NM_022436.3	NP_071881.1:p.(Val232=)	NC_000002.11:g.44053599G>A	(Likely) benign	3 labs	b102f92226
9:32481500 RIGI T>TA	9	32481500	32481516	T	TA	RIGI	c.1481-6dup	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32481516dup	(Likely) benign	3 labs	b1104f77d5
1:156105685 LMNA C>G	1	156105685	156105685	C	G	LMNA	c.937-7C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105685C>G	(Likely) benign	2 labs	b1107e98d2
6:32024600 TNXB T>C	6	32024600	32024600	T	C	TNXB	c.7906A>G	NM_019105.8	NP_061978.6:p.(Met2636Val)	NC_000006.11:g.32024600T>C	(Likely) benign	2 labs	b11d29486a
15:23932102 NDN G>A	15	23932102	23932102	G	A	NDN	c.263C>T	NM_002487.3	NP_002478.1:p.(Pro88Leu)	NC_000015.9:g.23932102G>A	(Likely) benign	2 labs	b11f8bcbc1
16:28493428 CLN3 G>A	16	28493428	28493428	G	A	CLN3	c.1054C>T	NM_001042432.2	NP_001035897.1:p.(Gln352Ter)	NC_000016.9:g.28493428G>A	(Likely) pathogenic	3 labs	b1264bb5b7
13:32907183 BRCA2 A>G	13	32907183	32907183	A	G	BRCA2	c.1568A>G	NM_000059.4	NP_000050.3:p.(His523Arg)	NC_000013.10:g.32907183A>G	(Likely) benign	2 labs	b12efbc61e
2:179403542 TTN A>G	2	179403542	179403542	A	G	TTN	c.99014T>C	NM_001267550.2	NP_001254479.2:p.(Leu33005Pro)	NC_000002.11:g.179403542A>G	VUS	2 labs	b13ae96e1a
21:44482453 CBS C>T	21	44482453	44482453	C	T	CBS	c.1007G>A	NM_000071.3	NP_000062.1:p.(Arg336His)	NC_000021.8:g.44482453C>T	(Likely) pathogenic	3 labs	b13de9536e
3:38592635 SCN5A C>T	3	38592635	38592635	C	T	SCN5A	c.5228G>A	NM_001099404.2	NP_001092874.1:p.(Gly1743Glu)	NC_000003.11:g.38592635C>T	(Likely) pathogenic	3 labs	b13e179cdb
13:32913587 BRCA2 G>A	13	32913587	32913587	G	A	BRCA2	c.5095G>A	NM_000059.4	NP_000050.3:p.(Asp1699Asn)	NC_000013.10:g.32913587G>A	(Likely) benign	3 labs	b14755810d
13:23910733 SACS T>C	13	23910733	23910733	T	C	SACS	c.7282A>G	NM_014363.6	NP_055178.3:p.(Ile2428Val)	NC_000013.10:g.23910733T>C	VUS	2 labs	b149cb1e48
10:69926349 MYPN C>T	10	69926349	69926349	C	T	MYPN	c.1899C>T	NM_032578.4	NP_115967.2:p.(Asn633=)	NC_000010.10:g.69926349C>T	(Likely) benign	3 labs	b14a7514a1
8:10467626 RP1L1 C>T	8	10467626	10467626	C	T	RP1L1	c.3982G>A	NM_178857.6	NP_849188.4:p.(Glu1328Lys)	NC_000008.10:g.10467626C>T	(Likely) benign	2 labs	b152bb8872
6:66115146 EYS C>T	6	66115146	66115146	C	T	EYS	c.977G>A	NM_001142800.2	NP_001136272.1:p.(Ser326Asn)	NC_000006.11:g.66115146C>T	(Likely) benign	2 labs	b155eda1c5
2:179640269 TTN C>T	2	179640269	179640269	C	T	TTN	c.6322G>A	NM_001267550.2	NP_001254479.2:p.(Glu2108Lys)	NC_000002.11:g.179640269C>T	VUS	2 labs	b155f0bf42
13:52532497 ATP7B T>TG	13	52532497	52532503	T	TG	ATP7B	c.2304dup	NM_000053.4	NP_000044.2:p.(Met769HisfsTer26)	NC_000013.10:g.52532503dup	(Likely) pathogenic	3 labs	b162387278
12:1902887 CACNA2D4 T>A	12	1902887	1902887	T	A	CACNA2D4	c.3348A>T	NM_172364.5	NP_758952.4:p.(Ser1116=)	NC_000012.11:g.1902887T>A	(Likely) benign	2 labs	b157cee93f
5:149433752 CSF1R A>G	5	149433752	149433752	A	G	CSF1R	c.2799T>C	NM_001349736.2	NP_001336665.1:p.(Gly933=)	NC_000005.9:g.149433752A>G	(Likely) benign	3 labs	b167196533
11:108186662 ATM C>T	11	108186662	108186662	C	T	ATM	c.6095+24C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108186662C>T	(Likely) benign	3 labs	b16be461f2
2:179582232 TTN G>T	2	179582232	179582232	G	T	TTN	c.25351+18C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179582232G>T	(Likely) benign	2 labs	b175cd358b
19:47258842 FKRP C>T	19	47258842	47258842	C	T	FKRP	c.135C>T	NM_001039885.3	NP_001034974.1:p.(Ala45=)	NC_000019.9:g.47258842C>T	(Likely) benign	3 labs	b17eaaf8e3
9:139402798 NOTCH1 C>T	9	139402798	139402798	C	T	NOTCH1	c.3211G>A	NM_017617.5	NP_060087.3:p.(Gly1071Ser)	NC_000009.11:g.139402798C>T	VUS	2 labs	b18fa6683f
6:112430768 LAMA4 G>A	6	112430768	112430768	G	A	LAMA4	c.5344C>T	NM_001105206.3	NP_001098676.2:p.(Arg1782Cys)	NC_000006.11:g.112430768G>A	(Likely) benign	3 labs	b182993b6d
1:201333465 TNNT2 G>A	1	201333465	201333465	G	A	TNNT2	c.420C>T	NM_001276347.2	NP_001263276.1:p.(Ile140=)	NC_000001.10:g.201333465G>A	(Likely) benign	3 labs	b18476aef1
18:25593644 CDH2 T>C	18	25593644	25593644	T	C	CDH2	c.399+3A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25593644T>C	(Likely) benign	3 labs	b18c9f5793
7:150671806 KCNH2 C>A	7	150671806	150671806	C	A	KCNH2	c.300G>T	NM_000238.4	NP_000229.1:p.(Arg100=)	NC_000007.13:g.150671806C>A	(Likely) benign	2 labs	b188cc4f70
2:179498022 TTN G>A	2	179498022	179498022	G	A	TTN	c.42978C>T	NM_001267550.2	NP_001254479.2:p.(Tyr14326=)	NC_000002.11:g.179498022G>A	(Likely) benign	2 labs	b189d3edf7
14:88416255 GALC C>T	14	88416255	88416255	C	T	GALC	c.1272G>A	NM_000153.4	NP_000144.2:p.(Gln424=)	NC_000014.8:g.88416255C>T	(Likely) benign	2 labs	b18c80d90b
2:179587128 TTN A>T	2	179587128	179587128	A	T	TTN	c.22386T>A	NM_001267550.2	NP_001254479.2:p.(Asp7462Glu)	NC_000002.11:g.179587128A>T	VUS	2 labs	b190117f38
17:39925361 JUP G>A	17	39925361	39925361	G	A	JUP	c.567C>T	NM_002230.4	NP_002221.1:p.(Val189=)	NC_000017.10:g.39925361G>A	(Likely) benign	2 labs	b1906a66c0
19:10265248 DNMT1 T>C	19	10265248	10265248	T	C	DNMT1	c.1832+14A>G	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10265248T>C	(Likely) benign	3 labs	b1a377b587
X:41204563 DDX3X C>T	X	41204563	41204563	C	T	DDX3X	c.1156C>T	NM_001356.5	NP_001347.3:p.(Pro386Ser)	NC_000023.10:g.41204563C>T	(Likely) pathogenic	2 labs	b1a3f86e27
5:7873533 MTRR C>G	5	7873533	7873533	C	G	MTRR	c.177C>G	NM_002454.3	NP_002445.2:p.(Thr59=)	NC_000005.9:g.7873533C>G	(Likely) benign	2 labs	b1a5ea8438
2:179447858 TTN G>A	2	179447858	179447858	G	A	TTN	c.57968C>T	NM_133378.4	NP_596869.4:p.(Pro19323Leu)	NC_000002.11:g.179447858G>A	VUS	3 labs	b1b21e2544
6:33145018 COL11A2 G>A	6	33145018	33145018	G	A	COL11A2	c.1972-16C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33145018G>A	(Likely) benign	2 labs	b1ce2502bf
2:179428167 TTN C>T	2	179428167	179428167	C	T	TTN	c.82692G>A	NM_001267550.2	NP_001254479.2:p.(Ala27564=)	NC_000002.11:g.179428167C>T	(Likely) benign	5 labs	b1bc3ad8dc
6:152673147 SYNE1 G>A	6	152673147	152673147	G	A	SYNE1	c.11580+15C>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152673147G>A	(Likely) benign	3 labs	b1bbd00a79
1:154562348 ADAR G>A	1	154562348	154562348	G	A	ADAR	c.1668C>T	NM_001193495.2	NP_001180424.1:p.(Cys556=)	NC_000001.10:g.154562348G>A	(Likely) benign	4 labs	b1c469e2c9
2:175618354 CHRNA1 G>A	2	175618354	175618354	G	A	CHRNA1	c.730C>T	NM_001039523.3	NP_001034612.1:p.(Leu244=)	NC_000002.11:g.175618354G>A	(Likely) benign	2 labs	b1c3ba16f4
4:114275980 ANK2 G>A	4	114275980	114275980	G	A	ANK2	c.6206G>A	NM_001148.6	NP_001139.3:p.(Arg2069His)	NC_000004.11:g.114275980G>A	(Likely) benign	2 labs	b1c994a995
19:39006718 RYR1 G>A	19	39006718	39006718	G	A	RYR1	c.9555-9G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39006718G>A	(Likely) benign	5 labs	b1ca0039bb
2:179447754 TTN C>T	2	179447754	179447754	C	T	TTN	c.65776G>A	NM_001267550.2	NP_001254479.2:p.(Val21926Met)	NC_000002.11:g.179447754C>T	(Likely) benign	3 labs	b1cdb036e5
20:62127262 EEF1A2 C>T	20	62127262	62127262	C	T	EEF1A2	c.271G>A	NM_001958.5	NP_001949.1:p.(Asp91Asn)	NC_000020.10:g.62127262C>T	(Likely) pathogenic	2 labs	b1d4476df6
11:67254509 AIP C>T	11	67254509	67254509	C	T	AIP	c.132C>T	NM_003977.4	NP_003968.3:p.(Asp44=)	NC_000011.9:g.67254509C>T	(Likely) benign	3 labs	b1d985af38
2:238243464 COL6A3 C>G	2	238243464	238243464	C	G	COL6A3	c.9034G>C	NM_004369.4	NP_004360.2:p.(Ala3012Pro)	NC_000002.11:g.238243464C>G	(Likely) benign	4 labs	b1e3578080
11:47356716 MYBPC3 ATG>A	11	47356716	47356722	ATG	A	MYBPC3	c.2780_2781del	NM_000256.3	NP_000247.2:p.(Thr927IlefsTer123)	NC_000011.9:g.47356721_47356722del	(Likely) pathogenic	3 labs	b1e986ce28
19:50781525 MYH14 T>G	19	50781525	50781525	T	G	MYH14	c.4011T>G	NM_001145809.2	NP_001139281.1:p.(Ala1337=)	NC_000019.9:g.50781525T>G	(Likely) benign	2 labs	b1eefbdd85
2:233350938 ECEL1 G>T	2	233350938	233350938	G	T	ECEL1	c.426C>A	NM_004826.4	NP_004817.2:p.(Asp142Glu)	NC_000002.11:g.233350938G>T	(Likely) benign	2 labs	b1ff24e99a
9:449770 DOCK8 C>T	9	449770	449770	C	T	DOCK8	c.5818-14C>T	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.449770C>T	(Likely) benign	2 labs	b20d601779
16:1020805 LMF1 G>A	16	1020805	1020805	G	A	LMF1	c.176C>T	NM_022773.4	NP_073610.2:p.(Ala59Val)	NC_000016.9:g.1020805G>A	VUS	2 labs	b21278f564
3:184040371 EIF4G1 G>C	3	184040371	184040371	G	C	EIF4G1	c.1648G>C	NM_182917.4	NP_886553.3:p.(Ala550Pro)	NC_000003.11:g.184040371G>C	(Likely) benign	2 labs	b219e34845
10:69934151 MYPN C>T	10	69934151	69934151	C	T	MYPN	c.2302C>T	NM_032578.4	NP_115967.2:p.(Pro768Ser)	NC_000010.10:g.69934151C>T	VUS	2 labs	b21cab6375
18:29178578 TTR C>T	18	29178578	29178578	C	T	TTR	c.384C>T	NM_000371.4	NP_000362.1:p.(Ala128=)	NC_000018.9:g.29178578C>T	(Likely) benign	4 labs	b223aab7fb
6:64574212 EYS A>C	6	64574212	64574212	A	C	EYS	c.7095T>G	NM_001292009.1	NP_001278938.1:p.(Tyr2365Ter)	NC_000006.11:g.64574212A>C	(Likely) pathogenic	3 labs	b22533f04e
2:179430537 TTN G>A	2	179430537	179430537	G	A	TTN	c.80322C>T	NM_001267550.2	NP_001254479.2:p.(Ala26774=)	NC_000002.11:g.179430537G>A	(Likely) benign	4 labs	b22ef538d4
21:46929973 COL18A1 C>T	21	46929973	46929973	C	T	COL18A1	c.4732-5C>T	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46929973C>T	(Likely) benign	2 labs	b235fe8d6c
6:123851705 TRDN G>A	6	123851705	123851705	G	A	TRDN	c.430C>T	NM_006073.4	NP_006064.2:p.(His144Tyr)	NC_000006.11:g.123851705G>A	(Likely) benign	3 labs	b23c3a4eb5
11:2591948 KCNQ1 C>T	11	2591948	2591948	C	T	KCNQ1	c.568C>T	NM_000218.3	NP_000209.2:p.(Arg190Trp)	NC_000011.9:g.2591948C>T	(Likely) pathogenic	2 labs	b23dc83664
16:1575309 IFT140 C>T	16	1575309	1575309	C	T	IFT140	c.2787G>A	NM_014714.4	NP_055529.2:p.(Thr929=)	NC_000016.9:g.1575309C>T	(Likely) benign	2 labs	b23ec7d166
1:237870535 RYR2 G>A	1	237870535	237870535	G	A	RYR2	c.9867G>A	NM_001035.3	NP_001026.2:p.(Gly3289=)	NC_000001.10:g.237870535G>A	(Likely) benign	2 labs	b24809d630
7:128475588 FLNC C>T	7	128475588	128475588	C	T	FLNC	c.561C>T	NM_001458.5	NP_001449.3:p.(Asp187=)	NC_000007.13:g.128475588C>T	(Likely) benign	4 labs	b250547eaa
2:27587724 EIF2B4 G>A	2	27587724	27587724	G	A	EIF2B4	c.1188C>T	NM_001318966.2	NP_001305895.1:p.(Asn396=)	NC_000002.11:g.27587724G>A	(Likely) benign	2 labs	b25af37781
8:100147861 VPS13B C>T	8	100147861	100147861	C	T	VPS13B	c.1463C>T	NM_017890.5	NP_060360.3:p.(Thr488Met)	NC_000008.10:g.100147861C>T	(Likely) benign	2 labs	b25e53dc4a
1:3328624 PRDM16 G>A	1	3328624	3328624	G	A	PRDM16	c.1863G>A	NM_022114.4	NP_071397.3:p.(Thr621=)	NC_000001.10:g.3328624G>A	(Likely) benign	2 labs	b26767679e
2:179437368 TTN A>G	2	179437368	179437368	A	G	TTN	c.73491T>C	NM_001267550.2	NP_001254479.2:p.(Tyr24497=)	NC_000002.11:g.179437368A>G	(Likely) benign	4 labs	b26dd754ca
6:112537561 LAMA4 C>T	6	112537561	112537561	C	T	LAMA4	c.297+8G>A	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112537561C>T	(Likely) benign	3 labs	b26e9e1b58
11:47363612 MYBPC3 G>A	11	47363612	47363612	G	A	MYBPC3	c.1720C>T	NM_000256.3	NP_000247.2:p.(Arg574Trp)	NC_000011.9:g.47363612G>A	VUS	2 labs	b272e7621d
12:8990937 A2ML1 C>A	12	8990937	8990937	C	A	A2ML1	c.861C>A	NM_144670.6	NP_653271.3:p.(Asp287Glu)	NC_000012.11:g.8990937C>A	(Likely) benign	2 labs	b27b57a41f
19:49674846 TRPM4 C>T	19	49674846	49674846	C	T	TRPM4	c.870C>T	NM_017636.4	NP_060106.2:p.(Asn290=)	NC_000019.9:g.49674846C>T	(Likely) benign	3 labs	b2812d28f6
10:121429369 BAG3 C>G	10	121429369	121429369	C	G	BAG3	c.187C>G	NM_004281.4	NP_004272.2:p.(Pro63Ala)	NC_000010.10:g.121429369C>G	(Likely) benign	4 labs	b283129782
4:123663163 BBS12 T>C	4	123663163	123663163	T	C	BBS12	c.116T>C	NM_152618.3	NP_689831.2:p.(Ile39Thr)	NC_000004.11:g.123663163T>C	(Likely) benign	2 labs	b29322cb55
2:179638314 TTN C>T	2	179638314	179638314	C	T	TTN	c.7469G>A	NM_001267550.2	NP_001254479.2:p.(Arg2490His)	NC_000002.11:g.179638314C>T	VUS	2 labs	b298361841
19:11218079 LDLR G>A	19	11218079	11218079	G	A	LDLR	c.829G>A	NM_000527.5	NP_000518.1:p.(Glu277Lys)	NC_000019.9:g.11218079G>A	(Likely) benign	2 labs	b29bb5ebc1
2:179621433 TTN C>G	2	179621433	179621433	C	G	TTN	c.10770G>C	NM_001267550.2	NP_001254479.2:p.(Glu3590Asp)	NC_000002.11:g.179621433C>G	VUS	2 labs	b2ae113d64
2:179622339 TTN C>T	2	179622339	179622339	C	T	TTN	c.10608G>A	NM_001267550.2	NP_001254479.2:p.(Gln3536=)	NC_000002.11:g.179622339C>T	(Likely) benign	4 labs	b2b9e507cd
18:28648051 DSC2 T>C	18	28648051	28648051	T	C	DSC2	c.2636A>G	NM_024422.6	NP_077740.1:p.(Asp879Gly)	NC_000018.9:g.28648051T>C	(Likely) benign	3 labs	b2c06f7090
11:108168127 ATM G>A	11	108168127	108168127	G	A	ATM	c.5005+18G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108168127G>A	(Likely) benign	4 labs	b2c4f4387b
17:29587544 NF1 C>G	17	29587544	29587544	C	G	NF1	c.4577+11C>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29587544C>G	(Likely) benign	2 labs	b2c4faafd6
9:116053909 PRPF4 A>G	9	116053909	116053909	A	G	PRPF4	c.809A>G	NM_001322267.2	NP_001309196.1:p.(Asp270Gly)	NC_000009.11:g.116053909A>G	VUS	2 labs	b2c80b8da6
14:90451521 TDP1 A>G	14	90451521	90451521	A	G	TDP1	c.1098A>G	NM_018319.4	NP_060789.2:p.(Gln366=)	NC_000014.8:g.90451521A>G	(Likely) benign	3 labs	b2d2ac3ffd
7:127892086 LEP C>G	7	127892086	127892086	C	G	LEP	c.15C>G	NM_000230.3	NP_000221.1:p.(Thr5=)	NC_000007.13:g.127892086C>G	(Likely) benign	2 labs	b2d69a2922
8:108509631 ANGPT1 G>T	8	108509631	108509631	G	T	ANGPT1	c.156C>A	NM_001146.5	NP_001137.2:p.(Gly52=)	NC_000008.10:g.108509631G>T	(Likely) benign	2 labs	b2dbab60c9
6:82461727 TENT5A ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG>A	6	82461727	82461789	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	A	TENT5A	c.102_131del	NM_017633.3	NP_060103.2:p.(Asp36_Gly45del)	NC_000006.11:g.82461760_82461789del	(Likely) benign	3 labs	b2eb433727
6:167344583 RNASET2 A>G	6	167344583	167344583	A	G	RNASET2	c.516T>C	NM_003730.6	NP_003721.2:p.(Leu172=)	NC_000006.11:g.167344583A>G	(Likely) benign	3 labs	b2ed4daf6d
11:119168130 CBL G>C	11	119168130	119168130	G	C	CBL	c.2190G>C	NM_005188.4	NP_005179.2:p.(Thr730=)	NC_000011.9:g.119168130G>C	(Likely) benign	4 labs	b2f1e11671
3:38645338 SCN5A G>A	3	38645338	38645338	G	A	SCN5A	c.1755C>T	NM_198056.3	NP_932173.1:p.(His585=)	NC_000003.11:g.38645338G>A	(Likely) benign	3 labs	b2f48841f0
4:6279278 WFS1 G>A	4	6279278	6279278	G	A	WFS1	c.96G>A	NM_006005.3	NP_005996.2:p.(Ser32=)	NC_000004.11:g.6279278G>A	(Likely) benign	3 labs	b2f9828fb0
16:23614846 PALB2 C>T	16	23614846	23614846	C	T	PALB2	c.3495G>A	NM_024675.4	NP_078951.2:p.(Ser1165=)	NC_000016.9:g.23614846C>T	(Likely) benign	6 labs	b2fdb39c9a
6:152647681 SYNE1 A>T	6	152647681	152647681	A	T	SYNE1	c.15043T>A	NM_182961.4	NP_892006.3:p.(Leu5015Met)	NC_000006.11:g.152647681A>T	(Likely) benign	3 labs	b30508f98e
16:2112969 TSC2 G>A	16	2112969	2112969	G	A	TSC2	c.1362-4G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112969G>A	(Likely) benign	2 labs	b311aeb373
2:189898907 COL5A2 T>C	2	189898907	189898907	T	C	COL5A2	c.4389A>G	NM_000393.5	NP_000384.2:p.(Glu1463=)	NC_000002.11:g.189898907T>C	(Likely) benign	3 labs	b315369419
6:42946559 PEX6 G>C	6	42946559	42946559	G	C	PEX6	c.330C>G	NM_000287.4	NP_000278.3:p.(Thr110=)	NC_000006.11:g.42946559G>C	(Likely) benign	2 labs	b31b718ad9
10:26986729 PDSS1 G>T	10	26986729	26986729	G	T	PDSS1	c.89G>T	NM_014317.5	NP_055132.2:p.(Gly30Val)	NC_000010.10:g.26986729G>T	(Likely) benign	2 labs	b31e1877aa
19:12758407 MAN2B1 T>C	19	12758407	12758407	T	C	MAN2B1	c.2670A>G	NM_000528.4	NP_000519.2:p.(Ser890=)	NC_000019.9:g.12758407T>C	(Likely) benign	3 labs	b3201a5274
9:95477559 BICD2 C>T	9	95477559	95477559	C	T	BICD2	c.2445G>A	NM_001003800.2	NP_001003800.1:p.(Pro815=)	NC_000009.11:g.95477559C>T	(Likely) benign	3 labs	b32569493a
16:2090008 NTHL1 C>T	16	2090008	2090008	C	T	NTHL1	c.832G>A	NM_002528.7	NP_002519.2:p.(Gly278Ser)	NC_000016.9:g.2090008C>T	VUS	2 labs	b326738f3d
6:152629772 SYNE1 G>GA	6	152629772	152629786	G	GA	SYNE1	c.17203-6dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629786dup	(Likely) benign	3 labs	b328f209af
7:151267237 PRKAG2 GA>G	7	151267237	151267247	GA	G	PRKAG2	c.1106+19del	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151267247del	(Likely) benign	3 labs	b32bfff135
7:26235536 HNRNPA2B1 G>C	7	26235536	26235536	G	C	HNRNPA2B1	c.695-7C>G	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26235536G>C	(Likely) benign	2 labs	b3465a6508
17:33445579 RAD51D G>A	17	33445579	33445579	G	A	RAD51D	c.204C>T	NM_002878.4	NP_002869.3:p.(Gly68=)	NC_000017.10:g.33445579G>A	(Likely) benign	2 labs	b338595444
2:179594027 TTN C>T	2	179594027	179594027	C	T	TTN	c.18856G>A	NM_001267550.2	NP_001254479.2:p.(Val6286Ile)	NC_000002.11:g.179594027C>T	(Likely) benign	3 labs	b33bc937b9
19:10277266 DNMT1 G>A	19	10277266	10277266	G	A	DNMT1	c.891+8C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10277266G>A	(Likely) benign	3 labs	b3403dfa85
2:179496930 TTN G>C	2	179496930	179496930	G	C	TTN	c.43691C>G	NM_001267550.2	NP_001254479.2:p.(Ser14564Cys)	NC_000002.11:g.179496930G>C	VUS	2 labs	b348012839
5:95730688 PCSK1 C>T	5	95730688	95730688	C	T	PCSK1	c.1764G>A	NM_000439.5	NP_000430.3:p.(Lys588=)	NC_000005.9:g.95730688C>T	(Likely) benign	2 labs	b34d087a78
19:41928130 BCKDHA C>T	19	41928130	41928130	C	T	BCKDHA	c.708C>T	NM_000709.4	NP_000700.1:p.(Phe236=)	NC_000019.9:g.41928130C>T	(Likely) benign	3 labs	b35655776f
2:233712248 GIGYF2 G>A	2	233712248	233712248	G	A	GIGYF2	c.3651G>A	NM_015575.4	NP_056390.2:p.(Pro1217=)	NC_000002.11:g.233712248G>A	(Likely) benign	3 labs	b367d1ab89
19:7533891 ARHGEF18 G>A	19	7533891	7533891	G	A	ARHGEF18	c.3661G>A	NM_001367823.1	NP_001354752.1:p.(Ala1221Thr)	NC_000019.9:g.7533891G>A	(Likely) benign	2 labs	b35f5fe16f
17:41245136 BRCA1 C>G	17	41245136	41245136	C	G	BRCA1	c.2412G>C	NM_007294.4	NP_009225.1:p.(Gln804His)	NC_000017.10:g.41245136C>G	(Likely) benign	4 labs	b361050b9d
14:64560091 SYNE2 T>C	14	64560091	64560091	T	C	SYNE2	c.12001T>C	NM_182914.3	NP_878918.2:p.(Trp4001Arg)	NC_000014.8:g.64560091T>C	(Likely) benign	2 labs	b36cd201c5
5:127873139 FBN2 C>T	5	127873139	127873139	C	T	FBN2	c.158G>A	NM_001999.4	NP_001990.2:p.(Gly53Asp)	NC_000005.9:g.127873139C>T	VUS	3 labs	b3716dd90b
16:75674252 KARS1 TAA>T	16	75674252	75674270	TAA	T	KARS1	c.307-7_307-6del	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75674269_75674270del	(Likely) benign	2 labs	b37489fc6e
2:179466859 TTN A>G	2	179466859	179466859	A	G	TTN	c.55139T>C	NM_001267550.2	NP_001254479.2:p.(Ile18380Thr)	NC_000002.11:g.179466859A>G	VUS	2 labs	b38074be45
15:44949329 SPG11 T>C	15	44949329	44949329	T	C	SPG11	c.833A>G	NM_025137.4	NP_079413.3:p.(Asn278Ser)	NC_000015.9:g.44949329T>C	(Likely) benign	3 labs	b38580241d
18:29101215 DSG2 CTT>C	18	29101215	29101230	CTT	C	DSG2	c.523+23_523+24del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101229_29101230del	(Likely) benign	4 labs	b3ab051d57
1:1421484 ATAD3B C>T	1	1421484	1421484	C	T	ATAD3B	c.964-6C>T	NM_031921.6	NP_114127.3:p.?	NC_000001.10:g.1421484C>T	(Likely) benign	2 labs	b3b16fa259
2:220286218 DES G>A	2	220286218	220286218	G	A	DES	c.1180G>A	NM_001927.4	NP_001918.3:p.(Val394Met)	NC_000002.11:g.220286218G>A	(Likely) benign	2 labs	b3b903d705
9:139400320 NOTCH1 G>A	9	139400320	139400320	G	A	NOTCH1	c.4028C>T	NM_017617.5	NP_060087.3:p.(Ala1343Val)	NC_000009.11:g.139400320G>A	(Likely) benign	5 labs	b3bffc73d4
9:137688741 COL5A1 C>T	9	137688741	137688741	C	T	COL5A1	c.2892C>T	NM_000093.5	NP_000084.3:p.(Gly964=)	NC_000009.11:g.137688741C>T	(Likely) benign	2 labs	b3e258f500
5:90000195 ADGRV1 G>C	5	90000195	90000195	G	C	ADGRV1	c.8287-11G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90000195G>C	(Likely) benign	2 labs	b3e9433234
19:2129176 AP3D1 AGGGCCTCGGTCACCCGCAGGGAATGCCCCACGCAGGGTGAGGGACAGGGG>A	19	2129176	2129257	AGGGCCTCGGTCACCCGCAGGGAATGCCCCACGCAGGGTGAGGGACAGGGG	A	AP3D1	c.733-64_733-15del	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2129208_2129257del	(Likely) benign	2 labs	b3f741b3c7
4:6292945 WFS1 G>A	4	6292945	6292945	G	A	WFS1	c.482G>A	NM_006005.3	NP_005996.2:p.(Arg161Gln)	NC_000004.11:g.6292945G>A	(Likely) benign	3 labs	b3f8467d5d
16:773163 CCDC78 T>C	16	773163	773163	T	C	CCDC78	c.1134-2A>G	NM_001378030.1	NP_001364959.1:p.?	NC_000016.9:g.773163T>C	VUS	2 labs	b4039650fd
3:132213932 DNAJC13 G>A	3	132213932	132213932	G	A	DNAJC13	c.3942G>A	NM_015268.4	NP_056083.3:p.(Pro1314=)	NC_000003.11:g.132213932G>A	(Likely) benign	2 labs	b41c4e1746
1:26393893 TRIM63 G>A	1	26393893	26393893	G	A	TRIM63	c.93C>T	NM_032588.4	NP_115977.2:p.(Thr31=)	NC_000001.10:g.26393893G>A	(Likely) benign	2 labs	b41dd36686
6:152655373 SYNE1 G>A	6	152655373	152655373	G	A	SYNE1	c.12564C>T	NM_182961.4	NP_892006.3:p.(Ser4188=)	NC_000006.11:g.152655373G>A	(Likely) benign	2 labs	b42041e8ff
12:88525005 CEP290 TA>T	12	88525005	88525017	TA	T	CEP290	c.442-11del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88525017del	(Likely) benign	2 labs	b425d06933
9:111674789 ELP1 G>A	9	111674789	111674789	G	A	ELP1	c.959-15C>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111674789G>A	(Likely) benign	2 labs	b42db0979a
2:219677076 CYP27A1 G>A	2	219677076	219677076	G	A	CYP27A1	c.578G>A	NM_000784.4	NP_000775.1:p.(Arg193Gln)	NC_000002.11:g.219677076G>A	VUS	2 labs	b42fae1698
7:128486105 FLNC C>T	7	128486105	128486105	C	T	FLNC	c.3852C>T	NM_001458.5	NP_001449.3:p.(Gly1284=)	NC_000007.13:g.128486105C>T	(Likely) benign	2 labs	b43fd925e4
3:38608053 SCN5A T>C	3	38608053	38608053	T	C	SCN5A	c.3687A>G	NM_198056.3	NP_932173.1:p.(Leu1229=)	NC_000003.11:g.38608053T>C	(Likely) benign	2 labs	b442026275
7:94056353 COL1A2 G>A	7	94056353	94056353	G	A	COL1A2	c.3139G>A	NM_000089.4	NP_000080.2:p.(Val1047Met)	NC_000007.13:g.94056353G>A	(Likely) benign	3 labs	b4494510db
7:66459180 SBDS T>C	7	66459180	66459180	T	C	SBDS	c.258+19A>G	NM_016038.4	NP_057122.2:p.?	NC_000007.13:g.66459180T>C	(Likely) benign	2 labs	b44c80db46
3:57232525 HESX1 G>GA	3	57232525	57232534	G	GA	HESX1	c.358-6dup	NM_003865.3	NP_003856.1:p.?	NC_000003.11:g.57232534dup	(Likely) benign	2 labs	b452f4d1b2
4:47954625 CNGA1 G>A	4	47954625	47954625	G	A	CNGA1	c.82C>T	NM_001142564.2	NP_001136036.2:p.(Arg28Ter)	NC_000004.11:g.47954625G>A	(Likely) pathogenic	2 labs	b45d1e1581
2:48026190 MSH6 T>C	2	48026190	48026190	T	C	MSH6	c.1068T>C	NM_000179.3	NP_000170.1:p.(Gly356=)	NC_000002.11:g.48026190T>C	(Likely) benign	2 labs	b4613fa374
1:12020798 PLOD1 G>A	1	12020798	12020798	G	A	PLOD1	c.1071G>A	NM_000302.4	NP_000293.2:p.(Ala357=)	NC_000001.10:g.12020798G>A	(Likely) benign	2 labs	b461d47fa0
2:64124722 VPS54 C>A	2	64124722	64124722	C	A	VPS54	c.2736G>T	NM_016516.3	NP_057600.2:p.(Met912Ile)	NC_000002.11:g.64124722C>A	(Likely) benign	2 labs	b47070e7a8
12:22065975 ABCC9 C>T	12	22065975	22065975	C	T	ABCC9	c.842G>A	NM_020297.4	NP_064693.2:p.(Arg281Gln)	NC_000012.11:g.22065975C>T	(Likely) benign	3 labs	b470da07a7
7:130056798 CEP41 A>G	7	130056798	130056798	A	G	CEP41	c.107T>C	NM_018718.3	NP_061188.1:p.(Met36Thr)	NC_000007.13:g.130056798A>G	VUS	2 labs	b47229c290
2:179542468 TTN TTTCCTCTTCTTCAGGTAGAAC>T	2	179542468	179542519	TTTCCTCTTCTTCAGGTAGAAC	T	TTN	c.34150_34170del	NM_001267550.2	NP_001254479.2:p.(Val11384_Glu11390del)	NC_000002.11:g.179542499_179542519del	(Likely) benign	4 labs	b473296304
7:128498228 FLNC C>T	7	128498228	128498228	C	T	FLNC	c.7947C>T	NM_001458.5	NP_001449.3:p.(Phe2649=)	NC_000007.13:g.128498228C>T	(Likely) benign	4 labs	b4770b0cef
12:52310026 ACVRL1 C>T	12	52310026	52310026	C	T	ACVRL1	c.1246+9C>T	NM_000020.3	NP_000011.2:p.?	NC_000012.11:g.52310026C>T	(Likely) benign	2 labs	b47c539272
17:44068924 MAPT G>A	17	44068924	44068924	G	A	MAPT	c.1479G>A	NM_001123066.4	NP_001116538.2:p.(Pro493=)	NC_000017.10:g.44068924G>A	(Likely) benign	3 labs	b4808c86e2
7:151254293 PRKAG2 C>T	7	151254293	151254293	C	T	PRKAG2	c.1704G>A	NM_016203.4	NP_057287.2:p.(Thr568=)	NC_000007.13:g.151254293C>T	(Likely) benign	2 labs	b487428be3
2:179550035 TTN TTTC>T	2	179550035	179550042	TTTC	T	TTN	c.32412_32414del	NM_001267550.2	NP_001254479.2:p.(Lys10805del)	NC_000002.11:g.179550040_179550042del	VUS	4 labs	b4895d3d76
6:33133732 COL11A2 A>T	6	33133732	33133732	A	T	COL11A2	c.4458T>A	NM_080680.3	NP_542411.2:p.(Gly1486=)	NC_000006.11:g.33133732A>T	(Likely) benign	2 labs	b491bcb911
15:23890004 MAGEL2 G>A	15	23890004	23890004	G	A	MAGEL2	c.2886C>T	NM_019066.5	NP_061939.3:p.(Ser962=)	NC_000015.9:g.23890004G>A	(Likely) benign	2 labs	b4945e7ca5
14:23865559 MYH6 G>A	14	23865559	23865559	G	A	MYH6	c.2363C>T	NM_002471.4	NP_002462.2:p.(Thr788Met)	NC_000014.8:g.23865559G>A	VUS	3 labs	b494b92a3b
14:23871692 MYH6 C>T	14	23871692	23871692	C	T	MYH6	c.1122G>A	NM_002471.4	NP_002462.2:p.(Ala374=)	NC_000014.8:g.23871692C>T	(Likely) benign	5 labs	b4a3e0b1e3
21:47417415 COL6A1 C>A	21	47417415	47417415	C	A	COL6A1	c.1461+18C>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47417415C>A	(Likely) benign	2 labs	b49e461ce7
8:30916058 WRN A>G	8	30916058	30916058	A	G	WRN	c.95A>G	NM_000553.6	NP_000544.2:p.(Lys32Arg)	NC_000008.10:g.30916058A>G	(Likely) benign	3 labs	b4a2dadac1
X:31224780 DMD G>A	X	31224780	31224780	G	A	DMD	c.9568C>T	NM_004006.2	NP_003997.1:p.(Arg3190Ter)	NC_000023.10:g.31224780G>A	(Likely) pathogenic	2 labs	b4a898db98
11:76901924 MYO7A GCCCGGAAGCACCTCCT>G	11	76901924	76901961	GCCCGGAAGCACCTCCT	G	MYO7A	c.3924+31_3924+46del	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76901946_76901961del	(Likely) benign	2 labs	b4b54b8d5c
X:70598871 TAF1 T>C	X	70598871	70598871	T	C	TAF1	c.1350T>C	NM_001286074.2	NP_001273003.2:p.(Asn450=)	NC_000023.10:g.70598871T>C	(Likely) benign	2 labs	b4b6f9dd7e
13:32907403 BRCA2 T>C	13	32907403	32907403	T	C	BRCA2	c.1788T>C	NM_000059.4	NP_000050.3:p.(Asp596=)	NC_000013.10:g.32907403T>C	(Likely) benign	6 labs	b4b9ab286c
3:132166302 DNAJC13 T>G	3	132166302	132166302	T	G	DNAJC13	c.282T>G	NM_015268.4	NP_056083.3:p.(Leu94=)	NC_000003.11:g.132166302T>G	(Likely) benign	2 labs	b4bb2aea7a
1:11316244 MTOR C>G	1	11316244	11316244	C	G	MTOR	c.510G>C	NM_004958.4	NP_004949.1:p.(Leu170=)	NC_000001.10:g.11316244C>G	(Likely) benign	3 labs	b4c4e5f9cb
16:77327005 ADAMTS18 G>A	16	77327005	77327005	G	A	ADAMTS18	c.3157C>T	NM_199355.4	NP_955387.1:p.(Arg1053Trp)	NC_000016.9:g.77327005G>A	VUS	2 labs	b4d8090af8
1:66102187 LEPR G>A	1	66102187	66102187	G	A	LEPR	c.2987G>A	NM_002303.6	NP_002294.2:p.(Ser996Asn)	NC_000001.10:g.66102187G>A	(Likely) benign	2 labs	b4e1f8d1f6
16:81953155 PLCG2 C>T	16	81953155	81953155	C	T	PLCG2	c.2121C>T	NM_002661.5	NP_002652.2:p.(Ser707=)	NC_000016.9:g.81953155C>T	(Likely) benign	2 labs	b4ef945bf2
2:73646401 ALMS1 C>G	2	73646401	73646401	C	G	ALMS1	c.604C>G	NM_015120.4	NP_055935.4:p.(Gln202Glu)	NC_000002.11:g.73646401C>G	(Likely) benign	2 labs	b4fcc9c537
8:100160206 VPS13B G>A	8	100160206	100160206	G	A	VPS13B	c.1981G>A	NM_017890.5	NP_060360.3:p.(Asp661Asn)	NC_000008.10:g.100160206G>A	(Likely) benign	2 labs	b50495d59f
8:100654425 VPS13B G>A	8	100654425	100654425	G	A	VPS13B	c.5682G>A	NM_017890.5	NP_060360.3:p.(Thr1894=)	NC_000008.10:g.100654425G>A	(Likely) benign	2 labs	b5063ebda5
X:48317041 SLC38A5 GCCT>G	X	48317041	48317081	GCCT	G	SLC38A5	c.*273_*275=	NM_033518.4	NP_277053.2:p.?	NC_000023.10:g.48317079_48317081del	(Likely) benign	2 labs	b50718b274
1:5993402 NPHP4 C>A	1	5993402	5993402	C	A	NPHP4	c.1120-13G>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5993402C>A	(Likely) benign	2 labs	b5099c7328
1:215824051 USH2A C>T	1	215824051	215824051	C	T	USH2A	c.14226G>A	NM_206933.4	NP_996816.3:p.(Thr4742=)	NC_000001.10:g.215824051C>T	(Likely) benign	3 labs	b50a9c8103
13:32918788 BRCA2 A>T	13	32918788	32918788	A	T	BRCA2	c.6935A>T	NM_000059.4	NP_000050.3:p.(Asp2312Val)	NC_000013.10:g.32918788A>T	(Likely) benign	3 labs	b50b2cb786
2:152419155 NEB G>A	2	152419155	152419155	G	A	NEB	c.18861C>T	NM_001271208.2	NP_001258137.2:p.(Arg6287=)	NC_000002.11:g.152419155G>A	(Likely) benign	3 labs	b50b41020d
X:85166258 CHM A>T	X	85166258	85166258	A	T	CHM	c.1244+8T>A	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85166258A>T	(Likely) benign	3 labs	b520a6962f
10:71055448 HK1 AT>A	10	71055448	71055459	AT	A	HK1	c.-67+23del	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71055459del	(Likely) benign	2 labs	b525c7395f
8:1871759 ARHGEF10 C>T	8	1871759	1871759	C	T	ARHGEF10	c.2457C>T	NM_001308153.2	NP_001295082.1:p.(Asp819=)	NC_000008.10:g.1871759C>T	(Likely) benign	3 labs	b526528f6e
16:2100511 TSC2 TAG>T	16	2100511	2100519	TAG	T	TSC2	c.225+31_225+32del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2100518_2100519del	(Likely) benign	2 labs	b52a5b7175
5:127636618 FBN2 C>T	5	127636618	127636618	C	T	FBN2	c.6057G>A	NM_001999.4	NP_001990.2:p.(Glu2019=)	NC_000005.9:g.127636618C>T	(Likely) benign	2 labs	b5305cbe9d
10:71160734 HK1 T>A	10	71160734	71160734	T	A	HK1	c.2574-13T>A	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71160734T>A	(Likely) benign	2 labs	b542ede8fe
2:73651738 ALMS1 T>C	2	73651738	73651738	T	C	ALMS1	c.948T>C	NM_015120.4	NP_055935.4:p.(Ser316=)	NC_000002.11:g.73651738T>C	(Likely) benign	3 labs	b548d8d4fe
3:14189402 XPC G>A	3	14189402	14189402	G	A	XPC	c.2514+6C>T	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14189402G>A	(Likely) benign	2 labs	b54b47e9a8
X:53231109 KDM5C G>A	X	53231109	53231109	G	A	KDM5C	c.1793C>T	NM_004187.5	NP_004178.2:p.(Pro598Leu)	NC_000023.10:g.53231109G>A	(Likely) pathogenic	2 labs	b55284a1d8
6:70952359 COL9A1 A>C	6	70952359	70952359	A	C	COL9A1	c.1926+6T>G	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70952359A>C	(Likely) benign	3 labs	b558afc8e9
19:11097098 SMARCA4 C>T	19	11097098	11097098	C	T	SMARCA4	c.589C>T	NM_001128844.3	NP_001122316.1:p.(Pro197Ser)	NC_000019.9:g.11097098C>T	(Likely) benign	2 labs	b55b499abe
3:53699666 CACNA1D A>AT	3	53699666	53699675	A	AT	CACNA1D	c.767-12dup	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53699675dup	(Likely) benign	2 labs	b569193db0
10:92678744 ANKRD1 A>ATAT	10	92678744	92678745	A	ATAT	ANKRD1	c.346-16_346-15insATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTAT	(Likely) benign	2 labs	b56aa54e87
22:50904521 SBF1 C>T	22	50904521	50904521	C	T	SBF1	c.898-18G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50904521C>T	(Likely) benign	2 labs	b56e4ea63d
19:16606659 CALR3 A>G	19	16606659	16606659	A	G	CALR3	c.96T>C	NM_145046.5	NP_659483.2:p.(His32=)	NC_000019.9:g.16606659A>G	(Likely) benign	2 labs	b5720bb354
2:179631169 TTN A>T	2	179631169	179631169	A	T	TTN	c.9642T>A	NM_001267550.2	NP_001254479.2:p.(Asp3214Glu)	NC_000002.11:g.179631169A>T	VUS	2 labs	b57db91524
14:23886738 MYH7 C>T	14	23886738	23886738	C	T	MYH7	c.4327G>A	NM_000257.4	NP_000248.2:p.(Asp1443Asn)	NC_000014.8:g.23886738C>T	VUS	3 labs	b5804e9732
3:58097526 FLNB C>T	3	58097526	58097526	C	T	FLNB	c.2493C>T	NM_001164317.2	NP_001157789.1:p.(Pro831=)	NC_000003.11:g.58097526C>T	(Likely) benign	3 labs	b5857c466d
19:50758523 MYH14 G>A	19	50758523	50758523	G	A	MYH14	c.1992G>A	NM_001145809.2	NP_001139281.1:p.(Pro664=)	NC_000019.9:g.50758523G>A	(Likely) benign	2 labs	b5890f6a30
8:97172809 GDF6 C>G	8	97172809	97172809	C	G	GDF6	c.112G>C	NM_001001557.4	NP_001001557.1:p.(Gly38Arg)	NC_000008.10:g.97172809C>G	(Likely) benign	2 labs	b58ed05fc8
15:63358166 TPM1 A>G	15	63358166	63358166	A	G	TPM1	c.844A>G	NM_001365777.1	NP_001352706.1:p.(Ile282Val)	NC_000015.9:g.63358166A>G	(Likely) benign	4 labs	b594ca2e21
11:108216611 ATM C>T	11	108216611	108216611	C	T	ATM	c.8560C>T	NM_000051.4	NP_000042.3:p.(Arg2854Cys)	NC_000011.9:g.108216611C>T	VUS	6 labs	b595ec4d10
X:13778273 OFD1 T>C	X	13778273	13778273	T	C	OFD1	c.1274T>C	NM_001330210.2	NP_001317139.1:p.(Val425Ala)	NC_000023.10:g.13778273T>C	(Likely) benign	3 labs	b5994ad72f
3:38743571 SCN10A G>A	3	38743571	38743571	G	A	SCN10A	c.4416C>T	NM_006514.4	NP_006505.4:p.(Ile1472=)	NC_000003.11:g.38743571G>A	(Likely) benign	2 labs	b59d726b8b
14:50655307 SOS2 C>T	14	50655307	50655307	C	T	SOS2	c.622G>A	NM_006939.4	NP_008870.2:p.(Ala208Thr)	NC_000014.8:g.50655307C>T	(Likely) benign	2 labs	b5a64e376a
2:21230446 APOB G>A	2	21230446	21230446	G	A	APOB	c.9294C>T	NM_000384.3	NP_000375.3:p.(Tyr3098=)	NC_000002.11:g.21230446G>A	(Likely) benign	2 labs	b5abde54e6
7:128484778 FLNC A>C	7	128484778	128484778	A	C	FLNC	c.3259A>C	NM_001458.5	NP_001449.3:p.(Thr1087Pro)	NC_000007.13:g.128484778A>C	VUS	2 labs	b5b14b75bd
16:57935275 CNGB1 T>A	16	57935275	57935275	T	A	CNGB1	c.2957A>T	NM_001297.5	NP_001288.3:p.(Asn986Ile)	NC_000016.9:g.57935275T>A	(Likely) pathogenic	2 labs	b5b35b73b5
8:10464796 RP1L1 G>C	8	10464796	10464796	G	C	RP1L1	c.6812C>G	NM_178857.6	NP_849188.4:p.(Pro2271Arg)	NC_000008.10:g.10464796G>C	(Likely) benign	3 labs	b5c4016390
19:47259592 FKRP C>T	19	47259592	47259592	C	T	FKRP	c.885C>T	NM_001039885.3	NP_001034974.1:p.(Arg295=)	NC_000019.9:g.47259592C>T	(Likely) benign	2 labs	b5c8080db0
15:48720652 FBN1 C>T	15	48720652	48720652	C	T	FBN1	c.6888G>A	NM_000138.5	NP_000129.3:p.(Gln2296=)	NC_000015.9:g.48720652C>T	(Likely) benign	2 labs	b5c8c211be
2:241710381 KIF1A C>A	2	241710381	241710381	C	A	KIF1A	c.1341+7G>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241710381C>A	(Likely) benign	2 labs	b5d30469a5
15:76673808 SCAPER C>T	15	76673808	76673808	C	T	SCAPER	c.3634G>A	NM_001353009.2	NP_001339938.1:p.(Glu1212Lys)	NC_000015.9:g.76673808C>T	(Likely) benign	2 labs	b5d3f8ecdd
11:108199822 ATM CT>C	11	108199822	108199823	CT	C	ATM	c.7165del	NM_000051.4	NP_000042.3:p.(Ser2389HisfsTer2)	NC_000011.9:g.108199823del	(Likely) pathogenic	2 labs	b5d483c4d1
19:10291078 DNMT1 G>A	19	10291078	10291078	G	A	DNMT1	c.393C>T	NM_001130823.3	NP_001124295.1:p.(Pro131=)	NC_000019.9:g.10291078G>A	(Likely) benign	2 labs	b5d938f41a
14:103440419 CDC42BPB C>T	14	103440419	103440419	C	T	CDC42BPB	c.1575G>A	NM_006035.4	NP_006026.3:p.(Thr525=)	NC_000014.8:g.103440419C>T	(Likely) benign	2 labs	b5e26cf1c0
10:94393383 KIF11 A>G	10	94393383	94393383	A	G	KIF11	c.1706A>G	NM_004523.4	NP_004514.2:p.(Asn569Ser)	NC_000010.10:g.94393383A>G	(Likely) benign	2 labs	b5e35c42fc
12:88443125 CEP290 C>T	12	88443125	88443125	C	T	CEP290	c.7276G>A	NM_025114.4	NP_079390.3:p.(Asp2426Asn)	NC_000012.11:g.88443125C>T	(Likely) benign	2 labs	b5e6d26677
2:179443678 TTN C>T	2	179443678	179443678	C	T	TTN	c.68079G>A	NM_001267550.2	NP_001254479.2:p.(Thr22693=)	NC_000002.11:g.179443678C>T	(Likely) benign	5 labs	b5eb2aa09b
13:32906398 BRCA2 T>C	13	32906398	32906398	T	C	BRCA2	c.794-11T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32906398T>C	(Likely) benign	5 labs	b5f3e817f2
5:176707684 NSD1 G>T	5	176707684	176707684	G	T	NSD1	c.5741G>T	NM_022455.5	NP_071900.2:p.(Arg1914Leu)	NC_000005.9:g.176707684G>T	(Likely) pathogenic	2 labs	b5f3e93698
15:85383640 ALPK3 G>A	15	85383640	85383640	G	A	ALPK3	c.1130G>A	NM_020778.5	NP_065829.4:p.(Gly377Glu)	NC_000015.9:g.85383640G>A	(Likely) benign	3 labs	b5f47bb869
X:153667108 GDI1 C>T	X	153667108	153667108	C	T	GDI1	c.154-3C>T	NM_001493.3	NP_001484.1:p.?	NC_000023.10:g.153667108C>T	(Likely) benign	3 labs	b5f6758727
X:48542816 WAS A>ACC	X	48542816	48542823	A	ACC	WAS	c.273+10_273+11dup	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48542822_48542823dup	(Likely) benign	4 labs	b5fa755cc6
9:3932462 GLIS3 A>G	9	3932462	3932462	A	G	GLIS3	c.1881T>C	NM_001042413.2	NP_001035878.1:p.(Tyr627=)	NC_000009.11:g.3932462A>G	(Likely) benign	2 labs	b60051513b
1:3329213 PRDM16 G>A	1	3329213	3329213	G	A	PRDM16	c.2452G>A	NM_022114.4	NP_071397.3:p.(Gly818Ser)	NC_000001.10:g.3329213G>A	(Likely) benign	6 labs	b60bbcb253
5:73205463 ARHGEF28 G>A	5	73205463	73205463	G	A	ARHGEF28	c.4388G>A	NM_001080479.3	NP_001073948.2:p.(Arg1463Gln)	NC_000005.9:g.73205463G>A	(Likely) benign	2 labs	b604880cb2
14:23900794 MYH7 G>A	14	23900794	23900794	G	A	MYH7	c.732C>T	NM_000257.4	NP_000248.2:p.(Phe244=)	NC_000014.8:g.23900794G>A	(Likely) benign	5 labs	b60c1484c9
16:15844004 MYH11 G>A	16	15844004	15844004	G	A	MYH11	c.2070C>T	NM_001040113.2	NP_001035202.1:p.(His690=)	NC_000016.9:g.15844004G>A	(Likely) benign	4 labs	b629ae68a2
2:179392987 TTN G>A	2	179392987	179392987	G	A	TTN	c.107377+14C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179392987G>A	(Likely) benign	2 labs	b6375eed8f
12:52314610 ACVRL1 C>T	12	52314610	52314610	C	T	ACVRL1	c.1445C>T	NM_000020.3	NP_000011.2:p.(Ala482Val)	NC_000012.11:g.52314610C>T	(Likely) benign	3 labs	b63998dc3c
8:119122312 EXT1 CCAGA>C	8	119122312	119122318	CCAGA	C	EXT1	c.962+8_962+11del	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.119122315_119122318del	(Likely) benign	2 labs	b64bd5933d
2:179659912 TTN G>A	2	179659912	179659912	G	A	TTN	c.982C>T	NM_001267550.2	NP_001254479.2:p.(Arg328Cys)	NC_000002.11:g.179659912G>A	(Likely) benign	2 labs	b6500d8bf6
8:42296993 SLC20A2 C>T	8	42296993	42296993	C	T	SLC20A2	c.909G>A	NM_001257180.2	NP_001244109.1:p.(Ala303=)	NC_000008.10:g.42296993C>T	(Likely) benign	2 labs	b652ef3cf6
2:219674476 CYP27A1 T>C	2	219674476	219674476	T	C	CYP27A1	c.432T>C	NM_000784.4	NP_000775.1:p.(Tyr144=)	NC_000002.11:g.219674476T>C	(Likely) benign	2 labs	b659d8c834
10:112764351 SHOC2 AT>A	10	112764351	112764359	AT	A	SHOC2	c.973-5del	NM_001324337.2	NP_001311266.1:p.?	NC_000010.10:g.112764359del	(Likely) benign	2 labs	b65bcc8925
9:35711344 TLN1 G>A	9	35711344	35711344	G	A	TLN1	c.3927C>T	NM_006289.4	NP_006280.3:p.(Ser1309=)	NC_000009.11:g.35711344G>A	(Likely) benign	2 labs	b665c13b8d
21:46914784 COL18A1 C>T	21	46914784	46914784	C	T	COL18A1	c.3633C>T	NM_130444.3	NP_569711.2:p.(Tyr1211=)	NC_000021.8:g.46914784C>T	(Likely) benign	2 labs	b669e1e2b1
9:139390676 NOTCH1 A>C	9	139390676	139390676	A	C	NOTCH1	c.7515T>G	NM_017617.5	NP_060087.3:p.(Pro2505=)	NC_000009.11:g.139390676A>C	(Likely) benign	2 labs	b66a5afd95
1:215848343 USH2A C>T	1	215848343	215848343	C	T	USH2A	c.12910G>A	NM_206933.4	NP_996816.3:p.(Glu4304Lys)	NC_000001.10:g.215848343C>T	VUS	2 labs	b688193b20
1:216219841 USH2A G>T	1	216219841	216219841	G	T	USH2A	c.6257C>A	NM_206933.4	NP_996816.3:p.(Thr2086Asn)	NC_000001.10:g.216219841G>T	(Likely) benign	3 labs	b689410517
9:139405649 NOTCH1 C>T	9	139405649	139405649	C	T	NOTCH1	c.2542G>A	NM_017617.5	NP_060087.3:p.(Glu848Lys)	NC_000009.11:g.139405649C>T	(Likely) benign	4 labs	b68af4efd7
3:123401084 MYLK C>T	3	123401084	123401084	C	T	MYLK	c.3639G>A	NM_053025.4	NP_444253.3:p.(Val1213=)	NC_000003.11:g.123401084C>T	(Likely) benign	2 labs	b68b8df3ff
17:39912106 JUP G>A	17	39912106	39912106	G	A	JUP	c.2128C>T	NM_002230.4	NP_002221.1:p.(Pro710Ser)	NC_000017.10:g.39912106G>A	VUS	2 labs	b69650b887
17:56289786 MKS1 G>A	17	56289786	56289786	G	A	MKS1	c.868C>T	NM_017777.4	NP_060247.2:p.(Arg290Trp)	NC_000017.10:g.56289786G>A	VUS	2 labs	b699fedd6e
2:73635857 ALMS1 G>A	2	73635857	73635857	G	A	ALMS1	c.435G>A	NM_015120.4	NP_055935.4:p.(Arg145=)	NC_000002.11:g.73635857G>A	(Likely) benign	2 labs	b6a6f57c1a
5:148406427 SH3TC2 T>C	5	148406427	148406427	T	C	SH3TC2	c.2868A>G	NM_024577.4	NP_078853.2:p.(Leu956=)	NC_000005.9:g.148406427T>C	(Likely) benign	2 labs	b6b1495561
X:70443744 GJB1 G>A	X	70443744	70443744	G	A	GJB1	c.187G>A	NM_000166.6	NP_000157.1:p.(Val63Ile)	NC_000023.10:g.70443744G>A	(Likely) pathogenic	2 labs	b6bacc0df9
13:103514609 ERCC5 T>A	13	103514609	103514609	T	A	ERCC5	c.1110T>A	NM_000123.4	NP_000114.3:p.(Arg370=)	NC_000013.10:g.103514609T>A	(Likely) benign	2 labs	b6bd8e986a
16:3778424 CREBBP T>G	16	3778424	3778424	T	G	CREBBP	c.6624A>C	NM_004380.3	NP_004371.2:p.(Gln2208His)	NC_000016.9:g.3778424T>G	(Likely) benign	3 labs	b6bdc1a15b
16:14041570 ERCC4 T>C	16	14041570	14041570	T	C	ERCC4	c.2117T>C	NM_005236.3	NP_005227.1:p.(Ile706Thr)	NC_000016.9:g.14041570T>C	VUS	2 labs	b6c64ad805
3:38763863 SCN10A G>C	3	38763863	38763863	G	C	SCN10A	c.3393C>G	NM_006514.4	NP_006505.4:p.(Thr1131=)	NC_000003.11:g.38763863G>C	(Likely) benign	2 labs	b6c8a16b50
6:7583453 DSP C>T	6	7583453	7583453	C	T	DSP	c.5958C>T	NM_004415.4	NP_004406.2:p.(Ile1986=)	NC_000006.11:g.7583453C>T	(Likely) benign	2 labs	b6cdcba84c
2:179514335 TTN C>A	2	179514335	179514335	C	A	TTN	c.39919G>T	NM_001267550.2	NP_001254479.2:p.(Val13307Phe)	NC_000002.11:g.179514335C>A	(Likely) benign	3 labs	b6ce9d7382
16:72138399 DHX38 C>T	16	72138399	72138399	C	T	DHX38	c.2025C>T	NM_014003.4	NP_054722.2:p.(Arg675=)	NC_000016.9:g.72138399C>T	(Likely) benign	2 labs	b6d3f6cbe0
13:52542667 ATP7B G>A	13	52542667	52542667	G	A	ATP7B	c.1620C>T	NM_000053.4	NP_000044.2:p.(Leu540=)	NC_000013.10:g.52542667G>A	(Likely) benign	3 labs	b6d8bce680
14:64574312 SYNE2 A>G	14	64574312	64574312	A	G	SYNE2	c.12596A>G	NM_182914.3	NP_878918.2:p.(Asn4199Ser)	NC_000014.8:g.64574312A>G	(Likely) benign	2 labs	b6d8c77b55
6:32036678 TNXB G>A	6	32036678	32036678	G	A	TNXB	c.5823C>T	NM_019105.8	NP_061978.6:p.(Ser1941=)	NC_000006.11:g.32036678G>A	(Likely) benign	2 labs	b6e4654968
2:179393111 TTN A>G	2	179393111	179393111	A	G	TTN	c.107267T>C	NM_001267550.2	NP_001254479.2:p.(Val35756Ala)	NC_000002.11:g.179393111A>G	(Likely) benign	3 labs	b6e59dd46b
7:103155864 RELN A>G	7	103155864	103155864	A	G	RELN	c.7887T>C	NM_005045.4	NP_005036.2:p.(Pro2629=)	NC_000007.13:g.103155864A>G	(Likely) benign	3 labs	b6f2340848
9:137726805 COL5A1 C>T	9	137726805	137726805	C	T	COL5A1	c.5137-12C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137726805C>T	(Likely) benign	2 labs	b6f31d3767
7:103251218 RELN T>C	7	103251218	103251218	T	C	RELN	c.2932A>G	NM_005045.4	NP_005036.2:p.(Thr978Ala)	NC_000007.13:g.103251218T>C	(Likely) benign	4 labs	b6fa603d6c
7:35280539 TBX20 G>T	7	35280539	35280539	G	T	TBX20	c.765C>A	NM_001077653.2	NP_001071121.1:p.(Ile255=)	NC_000007.13:g.35280539G>T	(Likely) benign	3 labs	b6f8691c66
12:22063868 ABCC9 G>A	12	22063868	22063868	G	A	ABCC9	c.1056C>T	NM_020297.4	NP_064693.2:p.(Tyr352=)	NC_000012.11:g.22063868G>A	(Likely) benign	2 labs	b704d80754
X:31986599 DMD A>T	X	31986599	31986599	A	T	DMD	c.6102T>A	NM_004010.3	NP_004001.1:p.(Thr2034=)	NC_000023.10:g.31986599A>T	(Likely) benign	2 labs	b7172b331b
9:91965577 SECISBP2 G>A	9	91965577	91965577	G	A	SECISBP2	c.1719G>A	NM_001282690.1	NP_001269619.1:p.(Val573=)	NC_000009.11:g.91965577G>A	(Likely) benign	2 labs	b720e281f1
11:47353765 MYBPC3 G>A	11	47353765	47353765	G	A	MYBPC3	c.3672C>T	NM_000256.3	NP_000247.2:p.(Asp1224=)	NC_000011.9:g.47353765G>A	(Likely) benign	3 labs	b721cac797
10:27333121 ANKRD26 TA>T	10	27333121	27333133	TA	T	ANKRD26	c.1986-3del	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27333133del	(Likely) benign	2 labs	b72a9d8ab0
11:299504 IFITM5 G>A	11	299504	299504	G	A	IFITM5	c.-14C>T	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.299504G>A	(Likely) pathogenic	2 labs	b72c20de48
7:128470938 FLNC T>TACCGCAAGTTCCATCCGC	7	128470938	128470956	T	TACCGCAAGTTCCATCCGC	FLNC	c.248_265dup	NM_001458.5	NP_001449.3:p.(Pro88_Arg89insHisArgLysPheHisPro)	NC_000007.13:g.128470939_128470956dup	VUS	3 labs	b73168d1db
7:91708637 AKAP9 C>G	7	91708637	91708637	C	G	AKAP9	c.7190C>G	NM_005751.5	NP_005742.4:p.(Ala2397Gly)	NC_000007.13:g.91708637C>G	(Likely) benign	2 labs	b73554060c
5:73072530 ARHGEF28 A>G	5	73072530	73072530	A	G	ARHGEF28	c.840+9A>G	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73072530A>G	(Likely) benign	2 labs	b74921c156
16:15808795 MYH11 G>A	16	15808795	15808795	G	A	MYH11	c.5778C>T	NM_001040113.2	NP_001035202.1:p.(Arg1926=)	NC_000016.9:g.15808795G>A	(Likely) benign	2 labs	b75b069bba
12:31250875 DDX11 G>C	12	31250875	31250875	G	C	DDX11	c.1819G>C	NM_030653.4	NP_085911.2:p.(Ala607Pro)	NC_000012.11:g.31250875G>C	(Likely) benign	2 labs	b75d589e85
17:75483502 SEPTIN9 C>T	17	75483502	75483502	C	T	SEPTIN9	c.860-4C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75483502C>T	(Likely) benign	2 labs	b7627a4e1c
3:58139172 FLNB G>A	3	58139172	58139172	G	A	FLNB	c.6531G>A	NM_001164317.2	NP_001157789.1:p.(Val2177=)	NC_000003.11:g.58139172G>A	(Likely) benign	2 labs	b7637115a9
21:46929522 COL18A1 GC>G	21	46929522	46929529	GC	G	COL18A1	c.4026+14del	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46929529del	(Likely) benign	3 labs	b7667cc632
14:76447141 TGFB3 G>A	14	76447141	76447141	G	A	TGFB3	c.96C>T	NM_003239.5	NP_003230.1:p.(Phe32=)	NC_000014.8:g.76447141G>A	(Likely) benign	2 labs	b76e52471f
6:112508708 LAMA4 C>T	6	112508708	112508708	C	T	LAMA4	c.910G>A	NM_001105206.3	NP_001098676.2:p.(Gly304Arg)	NC_000006.11:g.112508708C>T	VUS	2 labs	b77e7cd7cd
16:3632567 SLX4 G>A	16	3632567	3632567	G	A	SLX4	c.5281C>T	NM_032444.4	NP_115820.2:p.(Arg1761Cys)	NC_000016.9:g.3632567G>A	(Likely) benign	2 labs	b77ec979fe
19:4110492 MAP2K2 C>A	19	4110492	4110492	C	A	MAP2K2	c.450+15G>T	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4110492C>A	(Likely) benign	2 labs	b781a19632
10:75849961 VCL G>A	10	75849961	75849961	G	A	VCL	c.1352+5G>A	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75849961G>A	VUS	2 labs	b784a62b57
9:32542363 TOPORS G>A	9	32542363	32542363	G	A	TOPORS	c.2160C>T	NM_005802.5	NP_005793.2:p.(Tyr720=)	NC_000009.11:g.32542363G>A	(Likely) benign	2 labs	b785e70de3
11:76905391 MYO7A C>T	11	76905391	76905391	C	T	MYO7A	c.4153-8C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76905391C>T	(Likely) benign	2 labs	b78c1b4544
12:33049471 PKP2 G>A	12	33049471	33049471	G	A	PKP2	c.195C>T	NM_004572.4	NP_004563.2:p.(Ala65=)	NC_000012.11:g.33049471G>A	(Likely) benign	2 labs	b78d8710d7
7:103206001 RELN G>GA	7	103206001	103206012	G	GA	RELN	c.4937-4dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206012dup	(Likely) benign	2 labs	b7972a4acb
5:82815525 VCAN C>T	5	82815525	82815525	C	T	VCAN	c.1400C>T	NM_004385.5	NP_004376.2:p.(Ser467Phe)	NC_000005.9:g.82815525C>T	(Likely) benign	2 labs	b79c2fff49
2:179656928 TTN C>T	2	179656928	179656928	C	T	TTN	c.1537-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179656928C>T	(Likely) benign	3 labs	b7a7de3ea0
7:92734983 SAMD9 A>G	7	92734983	92734983	A	G	SAMD9	c.428T>C	NM_017654.4	NP_060124.2:p.(Ile143Thr)	NC_000007.13:g.92734983A>G	(Likely) benign	2 labs	b7a55243e4
8:55533754 RP1 C>T	8	55533754	55533754	C	T	RP1	c.228C>T	NM_006269.2	NP_006260.1:p.(Leu76=)	NC_000008.10:g.55533754C>T	(Likely) benign	2 labs	b7a9d6841a
7:154379727 DPP6 A>G	7	154379727	154379727	A	G	DPP6	c.995A>G	NM_001290253.2	NP_001277182.1:p.(His332Arg)	NC_000007.13:g.154379727A>G	(Likely) benign	2 labs	b7b02d31cf
17:48263274 COL1A1 C>T	17	48263274	48263274	C	T	COL1A1	c.4113G>A	NM_000088.4	NP_000079.2:p.(Lys1371=)	NC_000017.10:g.48263274C>T	(Likely) benign	2 labs	b7b40a9702
6:41129133 TREM2 C>T	6	41129133	41129133	C	T	TREM2	c.259G>A	NM_018965.4	NP_061838.1:p.(Asp87Asn)	NC_000006.11:g.41129133C>T	(Likely) benign	2 labs	b7c4c5975a
9:138676431 KCNT1 G>A	9	138676431	138676431	G	A	KCNT1	c.2859G>A	NM_001272003.2	NP_001258932.1:p.(Leu953=)	NC_000009.11:g.138676431G>A	(Likely) benign	3 labs	b7c608b7dc
X:32472771 DMD T>C	X	32472771	32472771	T	C	DMD	c.3234+8A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32472771T>C	(Likely) benign	4 labs	b7cec3e0b5
15:44900675 SPG11 C>T	15	44900675	44900675	C	T	SPG11	c.3420G>A	NM_025137.4	NP_079413.3:p.(Leu1140=)	NC_000015.9:g.44900675C>T	(Likely) benign	3 labs	b7cc9b1e27
1:3102675 PRDM16 G>A	1	3102675	3102675	G	A	PRDM16	c.38-14G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3102675G>A	(Likely) benign	2 labs	b7d3536370
12:8993985 A2ML1 T>C	12	8993985	8993985	T	C	A2ML1	c.1101T>C	NM_144670.6	NP_653271.3:p.(Asp367=)	NC_000012.11:g.8993985T>C	(Likely) benign	2 labs	b7d4359040
1:237617793 RYR2 C>A	1	237617793	237617793	C	A	RYR2	c.1395C>A	NM_001035.3	NP_001026.2:p.(Pro465=)	NC_000001.10:g.237617793C>A	(Likely) benign	4 labs	b7e59820e2
9:137694796 COL5A1 C>T	9	137694796	137694796	C	T	COL5A1	c.3069C>T	NM_000093.5	NP_000084.3:p.(Pro1023=)	NC_000009.11:g.137694796C>T	(Likely) benign	3 labs	b7f6358c16
7:75933445 HSPB1 T>C	7	75933445	75933445	T	C	HSPB1	c.573T>C	NM_001540.5	NP_001531.1:p.(Leu191=)	NC_000007.13:g.75933445T>C	(Likely) benign	2 labs	b7feadc1af
2:241662027 KIF1A G>A	2	241662027	241662027	G	A	KIF1A	c.4511C>T	NM_001244008.2	NP_001230937.1:p.(Thr1504Ile)	NC_000002.11:g.241662027G>A	VUS	2 labs	b804328d40
4:154216710 TRIM2 G>A	4	154216710	154216710	G	A	TRIM2	c.951G>A	NM_001130067.2	NP_001123539.1:p.(Thr317=)	NC_000004.11:g.154216710G>A	(Likely) benign	2 labs	b8060704c1
14:54418865 BMP4 A>G	14	54418865	54418865	A	G	BMP4	c.76T>C	NM_001202.6	NP_001193.2:p.(Leu26=)	NC_000014.8:g.54418865A>G	(Likely) benign	4 labs	b80787edb7
13:32912005 BRCA2 A>G	13	32912005	32912005	A	G	BRCA2	c.3513A>G	NM_000059.4	NP_000050.3:p.(Pro1171=)	NC_000013.10:g.32912005A>G	(Likely) benign	2 labs	b80e62b1b5
19:50713814 MYH14 G>T	19	50713814	50713814	G	T	MYH14	c.192G>T	NM_001145809.2	NP_001139281.1:p.(Gly64=)	NC_000019.9:g.50713814G>T	(Likely) benign	2 labs	b818b8b0e7
17:61391977 TANC2 A>G	17	61391977	61391977	A	G	TANC2	c.1166A>G	NM_025185.4	NP_079461.2:p.(His389Arg)	NC_000017.10:g.61391977A>G	VUS	2 labs	b8229f81d2
2:241722445 KIF1A G>A	2	241722445	241722445	G	A	KIF1A	c.864+16C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241722445G>A	(Likely) benign	2 labs	b824193ed5
2:238274359 COL6A3 G>A	2	238274359	238274359	G	A	COL6A3	c.5820C>T	NM_004369.4	NP_004360.2:p.(Ser1940=)	NC_000002.11:g.238274359G>A	(Likely) benign	2 labs	b82a89c6c1
11:2790163 KCNQ1 T>C	11	2790163	2790163	T	C	KCNQ1	c.1590+14T>C	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2790163T>C	(Likely) benign	3 labs	b82e5ef10a
1:216424360 USH2A T>C	1	216424360	216424360	T	C	USH2A	c.2052A>G	NM_206933.4	NP_996816.3:p.(Gln684=)	NC_000001.10:g.216424360T>C	VUS	2 labs	b83dd00c47
18:28673616 DSC2 GA>G	18	28673616	28673624	GA	G	DSC2	c.70-11del	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28673624del	(Likely) benign	2 labs	b848671aee
2:179598188 TTN C>T	2	179598188	179598188	C	T	TTN	c.15832G>A	NM_001267550.2	NP_001254479.2:p.(Ala5278Thr)	NC_000002.11:g.179598188C>T	VUS	2 labs	b84bcd1d72
1:45796890 MUTYH TTCC>T	1	45796890	45796897	TTCC	T	MUTYH	c.1437_1439del	NM_001128425.2	NP_001121897.1:p.(Glu480del)	NC_000001.10:g.45796895_45796897del	(Likely) pathogenic	4 labs	b8660fa583
18:19427030 MIB1 C>T	18	19427030	19427030	C	T	MIB1	c.2337C>T	NM_020774.4	NP_065825.1:p.(Leu779=)	NC_000018.9:g.19427030C>T	(Likely) benign	3 labs	b85a6fb2a2
17:17118285 FLCN A>C	17	17118285	17118285	A	C	FLCN	c.1538+14T>G	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17118285A>C	(Likely) benign	3 labs	b85c93ee5c
X:11133070 HCCS G>C	X	11133070	11133070	G	C	HCCS	c.216G>C	NM_005333.5	NP_005324.3:p.(Ala72=)	NC_000023.10:g.11133070G>C	(Likely) benign	2 labs	b87043d55b
7:6026787 PMS2 C>T	7	6026787	6026787	C	T	PMS2	c.1609G>A	NM_000535.7	NP_000526.2:p.(Glu537Lys)	NC_000007.13:g.6026787C>T	(Likely) benign	2 labs	b881d5d6c3
6:15533476 DTNBP1 C>T	6	15533476	15533476	C	T	DTNBP1	c.662G>A	NM_183040.2	NP_898861.1:p.(Arg221Gln)	NC_000006.11:g.15533476C>T	VUS	2 labs	b883decc1a
2:179578108 TTN TACAAA>T	2	179578108	179578139	TACAAA	T	TTN	c.26762-14_26762-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578135_179578139del	(Likely) benign	3 labs	b88e7198cc
9:135797254 TSC1 A>G	9	135797254	135797254	A	G	TSC1	c.615T>C	NM_000368.5	NP_000359.1:p.(Ser205=)	NC_000009.11:g.135797254A>G	(Likely) benign	2 labs	b88d924654
1:12059085 MFN2 G>A	1	12059085	12059085	G	A	MFN2	c.749G>A	NM_014874.4	NP_055689.1:p.(Arg250Gln)	NC_000001.10:g.12059085G>A	VUS	2 labs	b898cd600e
5:149439258 CSF1R G>A	5	149439258	149439258	G	A	CSF1R	c.2132+5C>T	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149439258G>A	(Likely) benign	2 labs	b899bb2cff
6:118880119 PLN TAAG>T	6	118880119	118880126	TAAG	T	PLN	c.40_42del	NM_002667.5	NP_002658.1:p.(Arg14del)	NC_000006.11:g.118880124_118880126del	(Likely) pathogenic	2 labs	b8932a3660
3:38888392 SCN11A G>A	3	38888392	38888392	G	A	SCN11A	c.5169C>T	NM_001349253.2	NP_001336182.1:p.(Pro1723=)	NC_000003.11:g.38888392G>A	(Likely) benign	2 labs	b89b301e34
12:32975561 PKP2 G>A	12	32975561	32975561	G	A	PKP2	c.1811C>T	NM_004572.4	NP_004563.2:p.(Thr604Met)	NC_000012.11:g.32975561G>A	VUS	2 labs	b8b3d2ca42
X:38260639 OTC G>T	X	38260639	38260639	G	T	OTC	c.498G>T	NM_000531.6	NP_000522.3:p.(Leu166Phe)	NC_000023.10:g.38260639G>T	(Likely) benign	2 labs	b8abd92c71
X:48896816 TFE3 C>T	X	48896816	48896816	C	T	TFE3	c.350G>A	NM_006521.6	NP_006512.2:p.(Arg117Gln)	NC_000023.10:g.48896816C>T	(Likely) pathogenic	3 labs	b8b5b37220
12:9004892 A2ML1 C>A	12	9004892	9004892	C	A	A2ML1	c.2550C>A	NM_144670.6	NP_653271.3:p.(Asp850Glu)	NC_000012.11:g.9004892C>A	(Likely) benign	2 labs	b8c05c2fcc
1:237813361 RYR2 G>C	1	237813361	237813361	G	C	RYR2	c.7697G>C	NM_001035.3	NP_001026.2:p.(Arg2566Pro)	NC_000001.10:g.237813361G>C	VUS	2 labs	b8d02baa33
2:179435027 TTN G>A	2	179435027	179435027	G	A	TTN	c.75832C>T	NM_001267550.2	NP_001254479.2:p.(Arg25278Cys)	NC_000002.11:g.179435027G>A	VUS	2 labs	b8e50454cc
13:32929431 BRCA2 G>A	13	32929431	32929431	G	A	BRCA2	c.7435+6G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32929431G>A	(Likely) benign	4 labs	b8f67d1c36
14:23902827 MYH7 C>T	14	23902827	23902827	C	T	MYH7	c.115G>A	NM_000257.4	NP_000248.2:p.(Val39Met)	NC_000014.8:g.23902827C>T	VUS	3 labs	b8fee43216
10:89623323 KLLN G>A	10	89623323	89623323	G	A	KLLN				NC_000010.10:g.89623323G>A	(Likely) benign	2 labs	b9049c27ce
3:38739622 SCN10A C>T	3	38739622	38739622	C	T	SCN10A	c.5089G>A	NM_006514.4	NP_006505.4:p.(Val1697Ile)	NC_000003.11:g.38739622C>T	(Likely) benign	2 labs	b904e9873a
15:85400716 ALPK3 T>C	15	85400716	85400716	T	C	ALPK3	c.2747T>C	NM_020778.5	NP_065829.4:p.(Leu916Pro)	NC_000015.9:g.85400716T>C	(Likely) benign	2 labs	b908a45592
2:179396668 TTN T>C	2	179396668	179396668	T	C	TTN	c.104674A>G	NM_001267550.2	NP_001254479.2:p.(Ser34892Gly)	NC_000002.11:g.179396668T>C	VUS	2 labs	b90b4d7357
5:134364996 PITX1 G>T	5	134364996	134364996	G	T	PITX1	c.418C>A	NM_002653.5	NP_002644.4:p.(Arg140=)	NC_000005.9:g.134364996G>T	(Likely) benign	2 labs	b910671a6f
17:56770084 RAD51C T>C	17	56770084	56770084	T	C	RAD51C	c.80T>C	NM_058216.3	NP_478123.1:p.(Leu27Pro)	NC_000017.10:g.56770084T>C	VUS	2 labs	b91def7671
4:90647794 SNCA G>A	4	90647794	90647794	G	A	SNCA	c.408C>T	NM_000345.4	NP_000336.1:p.(Tyr136=)	NC_000004.11:g.90647794G>A	(Likely) benign	2 labs	b92477ff03
16:2160312 PKD1 G>A	16	2160312	2160312	G	A	PKD1	c.4856C>T	NM_001009944.3	NP_001009944.3:p.(Ser1619Phe)	NC_000016.9:g.2160312G>A	(Likely) benign	2 labs	b92903dbf8
9:79999547 VPS13A G>GTGA	9	79999547	79999580	G	GTGA	VPS13A	c.9267_9269dup	NM_015186.4	NP_056001.1:p.(Asp3089dup)	NC_000009.11:g.79999578_79999580dup	(Likely) benign	3 labs	b92b713a31
2:179641951 TTN G>A	2	179641951	179641951	G	A	TTN	c.4739C>T	NM_001267550.2	NP_001254479.2:p.(Thr1580Met)	NC_000002.11:g.179641951G>A	(Likely) benign	4 labs	b93050d5ba
13:32929042 BRCA2 C>G	13	32929042	32929042	C	G	BRCA2	c.7052C>G	NM_000059.4	NP_000050.3:p.(Ala2351Gly)	NC_000013.10:g.32929042C>G	(Likely) benign	6 labs	b9342e76c7
7:26236034 HNRNPA2B1 A>G	7	26236034	26236034	A	G	HNRNPA2B1	c.681T>C	NM_031243.3	NP_112533.1:p.(Phe227=)	NC_000007.13:g.26236034A>G	(Likely) benign	2 labs	b93edfe959
2:179517088 TTN A>G	2	179517088	179517088	A	G	TTN	c.39128-14T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179517088A>G	(Likely) benign	2 labs	b946789abd
1:160305044 COPA C>T	1	160305044	160305044	C	T	COPA	c.297G>A	NM_004371.4	NP_004362.2:p.(Thr99=)	NC_000001.10:g.160305044C>T	(Likely) benign	3 labs	b946eb8c87
2:179605373 TTN G>T	2	179605373	179605373	G	T	TTN	c.12587C>A	NM_001267550.2	NP_001254479.2:p.(Ser4196Ter)	NC_000002.11:g.179605373G>T	(Likely) pathogenic	3 labs	b948532053
17:41245316 BRCA1 A>G	17	41245316	41245316	A	G	BRCA1	c.2232T>C	NM_007294.4	NP_009225.1:p.(Ala744=)	NC_000017.10:g.41245316A>G	(Likely) benign	3 labs	b949af09a9
16:15818090 MYH11 G>A	16	15818090	15818090	G	A	MYH11	c.4314C>T	NM_001040113.2	NP_001035202.1:p.(Asp1438=)	NC_000016.9:g.15818090G>A	(Likely) benign	3 labs	b953705820
14:105173748 INF2 A>G	14	105173748	105173748	A	G	INF2	c.1144A>G	NM_022489.4	NP_071934.3:p.(Ser382Gly)	NC_000014.8:g.105173748A>G	(Likely) benign	2 labs	b95b90c93b
17:42426926 GRN G>A	17	42426926	42426926	G	A	GRN	c.264+7G>A	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42426926G>A	(Likely) benign	3 labs	b96d69d147
17:74729211 METTL23 TA>T	17	74729211	74729213	TA	T	METTL23	c.37del	NM_001206987.3	NP_001193916.1:p.(Thr13HisfsTer40)	NC_000017.10:g.74729213del	(Likely) pathogenic	2 labs	b98e3f0546
22:46772949 CELSR1 T>A	22	46772949	46772949	T	A	CELSR1	c.7584+9A>T	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46772949T>A	(Likely) benign	2 labs	b991a5a124
17:39914957 JUP G>T	17	39914957	39914957	G	T	JUP	c.1653+10C>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914957G>T	(Likely) benign	4 labs	b99a6d7dde
11:19204313 CSRP3 G>T	11	19204313	19204313	G	T	CSRP3	c.509-20C>A	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19204313G>T	(Likely) benign	2 labs	b9a5cd9ef4
13:110438316 IRS2 GGTT>G	13	110438316	110438341	GGTT	G	IRS2	c.82_84del	NM_003749.3	NP_003740.2:p.(Asn28del)	NC_000013.10:g.110438339_110438341del	(Likely) benign	2 labs	b9a68d260a
18:43445730 EPG5 CA>C	18	43445730	43445747	CA	C	EPG5	c.6622-7del	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43445747del	(Likely) benign	4 labs	b9b66d24fd
3:123458811 MYLK G>C	3	123458811	123458811	G	C	MYLK	c.411C>G	NM_053025.4	NP_444253.3:p.(Ser137=)	NC_000003.11:g.123458811G>C	(Likely) benign	2 labs	b9c26dccdf
16:23647038 PALB2 C>T	16	23647038	23647038	C	T	PALB2	c.829G>A	NM_024675.4	NP_078951.2:p.(Asp277Asn)	NC_000016.9:g.23647038C>T	(Likely) benign	2 labs	b9c3e3a8b4
3:63898390 ATXN7 A>AGCC	3	63898390	63898399	A	AGCC	ATXN7	c.123_125dup	NM_000333.4	NP_000324.1:p.(Pro43dup)	NC_000003.11:g.63898397_63898399dup	(Likely) benign	2 labs	b9c814f215
13:32972735 BRCA2 T>C	13	32972735	32972735	T	C	BRCA2	c.10085T>C	NM_000059.4	NP_000050.3:p.(Phe3362Ser)	NC_000013.10:g.32972735T>C	(Likely) benign	3 labs	b9d37561e7
17:79892987 PYCR1 G>A	17	79892987	79892987	G	A	PYCR1	c.355C>T	NM_006907.4	NP_008838.2:p.(Arg119Cys)	NC_000017.10:g.79892987G>A	(Likely) pathogenic	2 labs	ba05456810
11:76916599 MYO7A T>C	11	76916599	76916599	T	C	MYO7A	c.5573T>C	NM_000260.4	NP_000251.3:p.(Leu1858Pro)	NC_000011.9:g.76916599T>C	(Likely) pathogenic	3 labs	b9d8116d83
14:23858594 MYH6 G>A	14	23858594	23858594	G	A	MYH6	c.3978+8C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858594G>A	(Likely) benign	2 labs	b9dc94fc62
19:12918023 RNASEH2A C>CA	19	12918023	12918026	C	CA	RNASEH2A	c.206dup	NM_006397.3	NP_006388.2:p.(Thr70AspfsTer50)	NC_000019.9:g.12918026dup	(Likely) pathogenic	2 labs	b9e210684d
2:179459296 TTN T>C	2	179459296	179459296	T	C	TTN	c.57925A>G	NM_001267550.2	NP_001254479.2:p.(Lys19309Glu)	NC_000002.11:g.179459296T>C	VUS	2 labs	b9e3322854
11:76914189 MYO7A G>T	11	76914189	76914189	G	T	MYO7A	c.5253G>T	NM_000260.4	NP_000251.3:p.(Pro1751=)	NC_000011.9:g.76914189G>T	(Likely) benign	2 labs	b9e5a927fb
22:21348473 LZTR1 C>T	22	21348473	21348473	C	T	LZTR1	c.1530C>T	NM_006767.4	NP_006758.2:p.(His510=)	NC_000022.10:g.21348473C>T	(Likely) benign	3 labs	b9ea840361
7:81695857 CACNA2D1 AAG>A	7	81695857	81695864	AAG	A	CACNA2D1	c.659-19_659-18del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695863_81695864del	(Likely) benign	2 labs	b9f962b2b9
5:138268311 CTNNA1 A>G	5	138268311	138268311	A	G	CTNNA1	c.2343A>G	NM_001903.5	NP_001894.2:p.(Gln781=)	NC_000005.9:g.138268311A>G	(Likely) benign	2 labs	ba090c9d2c
15:44881618 SPG11 A>G	15	44881618	44881618	A	G	SPG11	c.4744-6T>C	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44881618A>G	(Likely) benign	3 labs	ba0a4dbb02
12:2659186 CACNA1C G>A	12	2659186	2659186	G	A	CACNA1C	c.1468G>A	NM_199460.4	NP_955630.3:p.(Gly490Arg)	NC_000012.11:g.2659186G>A	VUS	2 labs	ba14c7f7e4
11:6651810 DCHS1 A>G	11	6651810	6651810	A	G	DCHS1	c.4215T>C	NM_003737.4	NP_003728.1:p.(Leu1405=)	NC_000011.9:g.6651810A>G	(Likely) benign	2 labs	ba17f14404
14:23872662 MYH6 T>G	14	23872662	23872662	T	G	MYH6	c.800-7A>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872662T>G	(Likely) benign	2 labs	ba18e4e53c
2:179413091 TTN A>C	2	179413091	179413091	A	C	TTN	c.93262T>G	NM_001267550.2	NP_001254479.2:p.(Phe31088Val)	NC_000002.11:g.179413091A>C	VUS	3 labs	ba289b6ec4
2:27308159 EMILIN1 G>A	2	27308159	27308159	G	A	EMILIN1	c.2707G>A	NM_007046.4	NP_008977.1:p.(Glu903Lys)	NC_000002.11:g.27308159G>A	(Likely) benign	2 labs	ba2fda0a86
1:40767578 COL9A2 A>G	1	40767578	40767578	A	G	COL9A2	c.1793-17T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40767578A>G	(Likely) benign	2 labs	ba30ce1ffc
7:107314596 SLC26A4 T>C	7	107314596	107314596	T	C	SLC26A4	c.416-13T>C	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107314596T>C	(Likely) benign	2 labs	ba31721652
13:32907531 BRCA2 CTG>C	13	32907531	32907534	CTG	C	BRCA2	c.1909+9_1909+10del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907533_32907534del	(Likely) benign	2 labs	ba3596e723
16:81929485 PLCG2 T>C	16	81929485	81929485	T	C	PLCG2	c.1146T>C	NM_002661.5	NP_002652.2:p.(Phe382=)	NC_000016.9:g.81929485T>C	(Likely) benign	3 labs	ba3d99119c
9:134387539 POMT1 G>A	9	134387539	134387539	G	A	POMT1	c.1082+16G>A	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134387539G>A	(Likely) benign	3 labs	ba3da667b8
X:119590604 LAMP2 A>G	X	119590604	119590604	A	G	LAMP2	c.85T>C	NM_002294.3	NP_002285.1:p.(Leu29=)	NC_000023.10:g.119590604A>G	(Likely) benign	2 labs	ba40c69f47
10:61835057 ANK3 G>A	10	61835057	61835057	G	A	ANK3	c.5582C>T	NM_020987.5	NP_066267.2:p.(Thr1861Met)	NC_000010.10:g.61835057G>A	VUS	2 labs	ba47d32465
2:179455228 TTN C>T	2	179455228	179455228	C	T	TTN	c.61224G>A	NM_001267550.2	NP_001254479.2:p.(Val20408=)	NC_000002.11:g.179455228C>T	(Likely) benign	2 labs	ba4d18f5d3
19:11135078 SMARCA4 C>T	19	11135078	11135078	C	T	SMARCA4	c.3045C>T	NM_001128844.3	NP_001122316.1:p.(Gly1015=)	NC_000019.9:g.11135078C>T	(Likely) benign	4 labs	ba5db9fda3
5:10254964 CCT5 A>T	5	10254964	10254964	A	T	CCT5	c.166+647A>T	NM_001306154.2	NP_001293083.1:p.?	NC_000005.9:g.10254964A>T	(Likely) benign	2 labs	ba60130dc2
4:120057775 MYOZ2 C>T	4	120057775	120057775	C	T	MYOZ2	c.76+19C>T	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057775C>T	(Likely) benign	3 labs	ba6368856f
5:161522557 GABRG2 G>A	5	161522557	161522557	G	A	GABRG2	c.316G>A	NM_198903.2	NP_944493.2:p.(Ala106Thr)	NC_000005.9:g.161522557G>A	(Likely) pathogenic	2 labs	ba6f931054
20:57227168 STX16 C>A	20	57227168	57227168	C	A	STX16	c.106C>A	NM_001001433.3	NP_001001433.1:p.(Pro36Thr)	NC_000020.10:g.57227168C>A	(Likely) benign	2 labs	ba7db0e060
2:179395813 TTN C>T	2	179395813	179395813	C	T	TTN	c.105529G>A	NM_001267550.2	NP_001254479.2:p.(Val35177Met)	NC_000002.11:g.179395813C>T	(Likely) benign	6 labs	ba7f6e1080
18:19383993 MIB1 A>G	18	19383993	19383993	A	G	MIB1	c.1479+18A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19383993A>G	(Likely) benign	2 labs	ba81c3775e
8:38947588 ADAM9 C>T	8	38947588	38947588	C	T	ADAM9	c.2091C>T	NM_003816.3	NP_003807.1:p.(Asp697=)	NC_000008.10:g.38947588C>T	(Likely) benign	2 labs	baadd64aff
6:170871054 TBP AGCAG>A	6	170871054	170871058	AGCAG	A	TBP	c.231_234del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer66)	NC_000006.11:g.170871055_170871058del	(Likely) benign	3 labs	bab08e2a99
5:89923388 ADGRV1 C>A	5	89923388	89923388	C	A	ADGRV1	c.1033C>A	NM_032119.4	NP_115495.3:p.(Gln345Lys)	NC_000005.9:g.89923388C>A	(Likely) benign	2 labs	bab76fae52
14:23865556 MYH6 C>T	14	23865556	23865556	C	T	MYH6	c.2366G>A	NM_002471.4	NP_002462.2:p.(Arg789His)	NC_000014.8:g.23865556C>T	VUS	2 labs	babe5b65cf
2:85768984 MAT2A T>C	2	85768984	85768984	T	C	MAT2A	c.438T>C	NM_005911.6	NP_005902.1:p.(Thr146=)	NC_000002.11:g.85768984T>C	(Likely) benign	2 labs	bac291a2c1
10:69881855 MYPN G>A	10	69881855	69881855	G	A	MYPN	c.660G>A	NM_032578.4	NP_115967.2:p.(Arg220=)	NC_000010.10:g.69881855G>A	(Likely) benign	3 labs	bac79853bc
11:108204717 ATM A>AT	11	108204717	108204725	A	AT	ATM	c.8010+30dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108204725dup	(Likely) benign	2 labs	bac8bd9340
16:16244584 ABCC6 C>T	16	16244584	16244584	C	T	ABCC6	c.4254G>A	NM_001171.6	NP_001162.5:p.(Arg1418=)	NC_000016.9:g.16244584C>T	(Likely) benign	4 labs	bacc90b239
3:38748833 SCN10A T>C	3	38748833	38748833	T	C	SCN10A	c.4323A>G	NM_006514.4	NP_006505.4:p.(Lys1441=)	NC_000003.11:g.38748833T>C	(Likely) benign	2 labs	badd86bb59
5:94842718 SKIC3 T>TA	5	94842718	94842729	T	TA	SKIC3	c.3015-4dup	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94842729dup	(Likely) benign	2 labs	badf2641a5
1:12012768 PLOD1 G>T	1	12012768	12012768	G	T	PLOD1	c.555G>T	NM_000302.4	NP_000293.2:p.(Lys185Asn)	NC_000001.10:g.12012768G>T	(Likely) benign	3 labs	bae651b845
16:23647558 PALB2 C>A	16	23647558	23647558	C	A	PALB2	c.309G>T	NM_024675.4	NP_078951.2:p.(Gly103=)	NC_000016.9:g.23647558C>A	(Likely) benign	2 labs	bafd1ca270
3:48630252 COL7A1 G>A	3	48630252	48630252	G	A	COL7A1	c.802C>T	NM_000094.4	NP_000085.1:p.(Pro268Ser)	NC_000003.11:g.48630252G>A	(Likely) benign	3 labs	bb015e51a6
9:2729696 KCNV2 A>G	9	2729696	2729696	A	G	KCNV2	c.1607A>G	NM_133497.4	NP_598004.1:p.(Asn536Ser)	NC_000009.11:g.2729696A>G	(Likely) benign	2 labs	bb07d1f09c
19:50339605 MED25 G>A	19	50339605	50339605	G	A	MED25	c.2088G>A	NM_030973.4	NP_112235.2:p.(Leu696=)	NC_000019.9:g.50339605G>A	(Likely) benign	2 labs	bb0bb1d1a5
16:30748691 SRCAP C>T	16	30748691	30748691	C	T	SRCAP	c.7330C>T	NM_006662.3	NP_006653.2:p.(Arg2444Ter)	NC_000016.9:g.30748691C>T	(Likely) pathogenic	3 labs	bb0f2d7c8f
8:10480295 RP1L1 T>TG	8	10480295	10480299	T	TG	RP1L1	c.416dup	NM_178857.6	NP_849188.4:p.(Gly140ArgfsTer10)	NC_000008.10:g.10480299dup	(Likely) benign	2 labs	bb1726a19f
9:133932472 LAMC3 G>A	9	133932472	133932472	G	A	LAMC3	c.2096G>A	NM_006059.4	NP_006050.3:p.(Gly699Asp)	NC_000009.11:g.133932472G>A	(Likely) benign	2 labs	bb1d02401e
6:110064928 FIG4 A>T	6	110064928	110064928	A	T	FIG4	c.1090A>T	NM_014845.6	NP_055660.1:p.(Met364Leu)	NC_000006.11:g.110064928A>T	(Likely) benign	3 labs	bb2b2698cf
2:179592035 TTN C>T	2	179592035	179592035	C	T	TTN	c.20057G>A	NM_001267550.2	NP_001254479.2:p.(Arg6686Gln)	NC_000002.11:g.179592035C>T	VUS	2 labs	bb309690fe
7:150644605 KCNH2 G>C	7	150644605	150644605	G	C	KCNH2	c.2966-3C>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150644605G>C	(Likely) pathogenic	2 labs	bb3a85fa50
6:112461988 LAMA4 C>T	6	112461988	112461988	C	T	LAMA4	c.2950G>A	NM_001105206.3	NP_001098676.2:p.(Val984Ile)	NC_000006.11:g.112461988C>T	(Likely) benign	3 labs	bb3ff2aace
8:90955525 NBN G>A	8	90955525	90955525	G	A	NBN	c.2140C>T	NM_002485.5	NP_002476.2:p.(Arg714Ter)	NC_000008.10:g.90955525G>A	(Likely) pathogenic	2 labs	bb4df9e799
5:178413163 GRM6 G>C	5	178413163	178413163	G	C	GRM6	c.2092C>G	NM_000843.4	NP_000834.2:p.(Leu698Val)	NC_000005.9:g.178413163G>C	(Likely) benign	2 labs	bb54188de1
19:1223094 STK11 T>C	19	1223094	1223094	T	C	STK11	c.1031T>C	NM_000455.5	NP_000446.1:p.(Leu344Pro)	NC_000019.9:g.1223094T>C	VUS	3 labs	bb5456af0c
2:179638253 TTN T>C	2	179638253	179638253	T	C	TTN	c.7530A>G	NM_001267550.2	NP_001254479.2:p.(Ser2510=)	NC_000002.11:g.179638253T>C	(Likely) benign	3 labs	bb5cdeefe0
13:32906850 BRCA2 C>A	13	32906850	32906850	C	A	BRCA2	c.1235C>A	NM_000059.4	NP_000050.3:p.(Pro412His)	NC_000013.10:g.32906850C>A	(Likely) benign	2 labs	bb612048e8
11:19209814 CSRP3 C>T	11	19209814	19209814	C	T	CSRP3	c.150G>A	NM_003476.5	NP_003467.1:p.(Ala50=)	NC_000011.9:g.19209814C>T	(Likely) benign	4 labs	bb65ce526c
10:73461953 CDH23 G>A	10	73461953	73461953	G	A	CDH23	c.2572G>A	NM_022124.6	NP_071407.4:p.(Val858Ile)	NC_000010.10:g.73461953G>A	(Likely) benign	3 labs	bb6a144366
18:58038989 MC4R G>A	18	58038989	58038989	G	A	MC4R	c.594C>T	NM_005912.3	NP_005903.2:p.(Ile198=)	NC_000018.9:g.58038989G>A	(Likely) benign	2 labs	bb74e9c3aa
5:89992842 ADGRV1 T>G	5	89992842	89992842	T	G	ADGRV1	c.8034T>G	NM_032119.4	NP_115495.3:p.(Thr2678=)	NC_000005.9:g.89992842T>G	(Likely) benign	2 labs	bb7c51bb78
16:15818604 MYH11 C>T	16	15818604	15818604	C	T	MYH11	c.4016G>A	NM_002474.3	NP_002465.1:p.(Arg1339His)	NC_000016.9:g.15818604C>T	VUS	2 labs	bb9a01cab0
7:30655643 GARS1 G>A	7	30655643	30655643	G	A	GARS1	c.1001G>A	NM_001316772.1	NP_001303701.1:p.(Arg334Gln)	NC_000007.13:g.30655643G>A	(Likely) benign	3 labs	bba1fa8f28
2:179427544 TTN T>A	2	179427544	179427544	T	A	TTN	c.83315A>T	NM_001267550.2	NP_001254479.2:p.(Asn27772Ile)	NC_000002.11:g.179427544T>A	(Likely) benign	4 labs	bba9f43176
1:12033062 PLOD1 G>T	1	12033062	12033062	G	T	PLOD1	c.2028+8G>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12033062G>T	(Likely) benign	2 labs	bbad50521d
19:7623833 PNPLA6 C>T	19	7623833	7623833	C	T	PNPLA6	c.3525C>T	NM_001166111.2	NP_001159583.1:p.(Ser1175=)	NC_000019.9:g.7623833C>T	(Likely) benign	3 labs	bbb5bcffb8
12:76740799 BBS10 A>G	12	76740799	76740799	A	G	BBS10	c.966T>C	NM_024685.4	NP_078961.3:p.(Tyr322=)	NC_000012.11:g.76740799A>G	(Likely) benign	2 labs	bbc4f0a1d0
14:23858279 MYH6 G>T	14	23858279	23858279	G	T	MYH6	c.3979-15C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858279G>T	(Likely) benign	3 labs	bbc6c1c0f9
7:6038830 PMS2 T>G	7	6038830	6038830	T	G	PMS2	c.614A>C	NM_000535.7	NP_000526.2:p.(Gln205Pro)	NC_000007.13:g.6038830T>G	VUS	2 labs	bbc797b685
8:100887784 VPS13B C>G	8	100887784	100887784	C	G	VPS13B	c.11959C>G	NM_017890.5	NP_060360.3:p.(Pro3987Ala)	NC_000008.10:g.100887784C>G	(Likely) benign	4 labs	bbc9ad331e
X:139587099 SOX3 C>T	X	139587099	139587099	C	T	SOX3	c.127G>A	NM_005634.3	NP_005625.2:p.(Ala43Thr)	NC_000023.10:g.139587099C>T	(Likely) benign	2 labs	bbdcb328f6
10:13330345 PHYH G>A	10	13330345	13330345	G	A	PHYH	c.378+15C>T	NM_001037537.2	NP_001032626.1:p.?	NC_000010.10:g.13330345G>A	(Likely) benign	3 labs	bbe223615c
5:127873186 FBN2 C>T	5	127873186	127873186	C	T	FBN2	c.111G>A	NM_001999.4	NP_001990.2:p.(Pro37=)	NC_000005.9:g.127873186C>T	(Likely) benign	2 labs	bbe68d6458
8:59409234 CYP7A1 G>T	8	59409234	59409234	G	T	CYP7A1	c.837C>A	NM_000780.4	NP_000771.2:p.(His279Gln)	NC_000008.10:g.59409234G>T	VUS	2 labs	bbe6adf5e8
2:179454233 TTN T>A	2	179454233	179454233	T	A	TTN	c.62219A>T	NM_001267550.2	NP_001254479.2:p.(Glu20740Val)	NC_000002.11:g.179454233T>A	VUS	3 labs	bbeb6c3a5b
16:46727099 ORC6 G>A	16	46727099	46727099	G	A	ORC6	c.449+5G>A	NM_014321.4	NP_055136.1:p.?	NC_000016.9:g.46727099G>A	(Likely) pathogenic	2 labs	bbff0c3aea
2:234969066 SPP2 C>T	2	234969066	234969066	C	T	SPP2	c.387C>T	NM_006944.3	NP_008875.1:p.(Gly129=)	NC_000002.11:g.234969066C>T	(Likely) benign	2 labs	bbff1f4312
2:227912190 COL4A4 C>A	2	227912190	227912190	C	A	COL4A4	c.3289+1G>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227912190C>A	(Likely) pathogenic	3 labs	bc01706885
7:128037009 IMPDH1 T>C	7	128037009	128037009	T	C	IMPDH1	c.1142A>G	NM_000883.4	NP_000874.2:p.(His381Arg)	NC_000007.13:g.128037009T>C	(Likely) benign	3 labs	bc04679816
17:56809918 RAD51C T>C	17	56809918	56809918	T	C	RAD51C	c.1026+13T>C	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56809918T>C	(Likely) benign	2 labs	bc0773be78
16:23652461 PALB2 C>A	16	23652461	23652461	C	A	PALB2	c.18G>T	NM_024675.4	NP_078951.2:p.(Gly6=)	NC_000016.9:g.23652461C>A	(Likely) pathogenic	2 labs	bc0ac8932a
14:23855320 MYH6 G>A	14	23855320	23855320	G	A	MYH6	c.4980C>T	NM_002471.4	NP_002462.2:p.(Asp1660=)	NC_000014.8:g.23855320G>A	(Likely) benign	3 labs	bc168ba877
16:53720481 RPGRIP1L C>T	16	53720481	53720481	C	T	RPGRIP1L	c.640G>A	NM_001308334.3	NP_001295263.1:p.(Val214Ile)	NC_000016.9:g.53720481C>T	(Likely) benign	2 labs	bc245e0b0e
1:236908089 ACTN2 GC>G	1	236908089	236908092	GC	G	ACTN2	c.782+16del	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236908092del	(Likely) benign	2 labs	bc24ac4d5b
2:179424388 TTN G>A	2	179424388	179424388	G	A	TTN	c.78767C>T	NM_133378.4	NP_596869.4:p.(Thr26256Ile)	NC_000002.11:g.179424388G>A	VUS	3 labs	bc31503f6f
12:33030995 PKP2 C>T	12	33030995	33030995	C	T	PKP2	c.819G>A	NM_004572.4	NP_004563.2:p.(Pro273=)	NC_000012.11:g.33030995C>T	(Likely) benign	3 labs	bc3b3bea2c
22:37154436 IFT27 G>A	22	37154436	37154436	G	A	IFT27	c.480C>T	NM_001177701.3	NP_001171172.1:p.(Phe160=)	NC_000022.10:g.37154436G>A	(Likely) benign	2 labs	bc43248c51
7:112101911 IFRD1 T>A	7	112101911	112101911	T	A	IFRD1	c.568-10T>A	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101911T>A	(Likely) benign	2 labs	bc470f4e06
4:15516374 CC2D2A A>G	4	15516374	15516374	A	G	CC2D2A	c.762A>G	NM_001080522.2	NP_001073991.2:p.(Leu254=)	NC_000004.11:g.15516374A>G	(Likely) benign	2 labs	bc6ba7a1e7
1:235993740 LYST T>C	1	235993740	235993740	T	C	LYST	c.-7-16A>G	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235993740T>C	(Likely) benign	2 labs	bc6dded85e
10:67829067 CTNNA3 T>G	10	67829067	67829067	T	G	CTNNA3	c.2158A>C	NM_013266.4	NP_037398.2:p.(Arg720=)	NC_000010.10:g.67829067T>G	(Likely) benign	2 labs	bc70290727
5:13850914 DNAH5 C>T	5	13850914	13850914	C	T	DNAH5	c.4961G>A	NM_001369.3	NP_001360.1:p.(Arg1654Gln)	NC_000005.9:g.13850914C>T	VUS	4 labs	bc74cb9c74
1:12049209 MFN2 G>T	1	12049209	12049209	G	T	MFN2	c.-4-13G>T	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12049209G>T	(Likely) benign	2 labs	bc7bf1d0ba
2:179466366 TTN C>T	2	179466366	179466366	C	T	TTN	c.55432+19G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179466366C>T	(Likely) benign	4 labs	bc858274c3
9:103060213 INVS T>G	9	103060213	103060213	T	G	INVS	c.3017-5T>G	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103060213T>G	(Likely) benign	4 labs	bc8970c98b
10:75842257 VCL C>A	10	75842257	75842257	C	A	VCL	c.829C>A	NM_003373.4	NP_003364.1:p.(Leu277Met)	NC_000010.10:g.75842257C>A	VUS	2 labs	bc8c937534
4:184600601 TRAPPC11 A>G	4	184600601	184600601	A	G	TRAPPC11	c.927A>G	NM_021942.6	NP_068761.4:p.(Ala309=)	NC_000004.11:g.184600601A>G	(Likely) benign	2 labs	bc93021709
6:110113766 FIG4 T>C	6	110113766	110113766	T	C	FIG4	c.2377-19T>C	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113766T>C	(Likely) benign	3 labs	bc97ce8259
2:71187104 ATP6V1B1 G>A	2	71187104	71187104	G	A	ATP6V1B1	c.481G>A	NM_001692.4	NP_001683.2:p.(Glu161Lys)	NC_000002.11:g.71187104G>A	(Likely) benign	3 labs	bc9d14a024
19:11123615 SMARCA4 G>A	19	11123615	11123615	G	A	SMARCA4	c.2275-10G>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11123615G>A	(Likely) benign	2 labs	bca15fd8d2
2:189940104 COL5A2 A>G	2	189940104	189940104	A	G	COL5A2	c.1104+15T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189940104A>G	(Likely) benign	2 labs	bca5b45890
16:23652466 PALB2 G>A	16	23652466	23652466	G	A	PALB2	c.13C>T	NM_024675.4	NP_078951.2:p.(Pro5Ser)	NC_000016.9:g.23652466G>A	(Likely) benign	2 labs	bca5f7ba1c
4:3494634 DOK7 C>T	4	3494634	3494634	C	T	DOK7	c.921C>T	NM_173660.5	NP_775931.3:p.(Ala307=)	NC_000004.11:g.3494634C>T	(Likely) benign	2 labs	bcac0fdcc1
9:135139790 SETX C>A	9	135139790	135139790	C	A	SETX	c.7870G>T	NM_001351527.2	NP_001338456.1:p.(Asp2624Tyr)	NC_000009.11:g.135139790C>A	VUS	2 labs	bcadb34367
6:170871052 TBP G>A	6	170871052	170871052	G	A	TBP	c.228G>A	NM_003194.5	NP_003185.1:p.(Gln76=)	NC_000006.11:g.170871052G>A	(Likely) benign	2 labs	bcb4be8d97
2:48026120 MSH6 C>T	2	48026120	48026120	C	T	MSH6	c.998C>T	NM_000179.3	NP_000170.1:p.(Thr333Ile)	NC_000002.11:g.48026120C>T	VUS	2 labs	bcb5d66933
16:88495774 ZNF469 G>A	16	88495774	88495774	G	A	ZNF469	c.1896G>A	NM_001367624.2	NP_001354553.1:p.(Ser632=)	NC_000016.9:g.88495774G>A	(Likely) benign	2 labs	bcc50342ba
7:128482834 FLNC C>T	7	128482834	128482834	C	T	FLNC	c.2390-14C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482834C>T	(Likely) benign	4 labs	bcd2c85198
20:4680025 PRNP CGGTGGTGGCTGGGGGCAGCCTCAT>C	20	4680025	4680093	CGGTGGTGGCTGGGGGCAGCCTCAT	C	PRNP	c.204_227del	NM_000311.5	NP_000302.1:p.(Pro84_Gln91del)	NC_000020.10:g.4680070_4680093del	(Likely) benign	2 labs	bcf3d2c1f4
14:23858274 MYH6 G>T	14	23858274	23858274	G	T	MYH6	c.3979-10C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858274G>T	(Likely) benign	3 labs	bcf5538766
X:153220978 HCFC1 T>C	X	153220978	153220978	T	C	HCFC1	c.2872A>G	NM_005334.3	NP_005325.2:p.(Thr958Ala)	NC_000023.10:g.153220978T>C	(Likely) benign	4 labs	bcfe36d164
1:22408212 CDC42 T>C	1	22408212	22408212	T	C	CDC42	c.106-3T>C	NM_001039802.2	NP_001034891.1:p.?	NC_000001.10:g.22408212T>C	(Likely) benign	2 labs	bd0196f488
4:123664894 BBS12 G>A	4	123664894	123664894	G	A	BBS12	c.1847G>A	NM_001178007.2	NP_001171478.1:p.(Ser616Asn)	NC_000004.11:g.123664894G>A	(Likely) benign	3 labs	bd147d09f1
12:45771901 ANO6 GT>G	12	45771901	45771917	GT	G	ANO6	c.1228+21del	NM_001204803.2	NP_001191732.1:p.?	NC_000012.11:g.45771917del	(Likely) benign	2 labs	bd1e4005d9
11:118352769 KMT2A G>A	11	118352769	118352769	G	A	KMT2A	c.3974G>A	NM_001197104.2	NP_001184033.1:p.(Ser1325Asn)	NC_000011.9:g.118352769G>A	(Likely) benign	3 labs	bd3096be24
12:21926260 KCNJ8 G>C	12	21926260	21926260	G	C	KCNJ8	c.291C>G	NM_004982.4	NP_004973.1:p.(Ala97=)	NC_000012.11:g.21926260G>C	(Likely) benign	2 labs	bd314dd61d
7:45104131 CCM2 G>A	7	45104131	45104131	G	A	CCM2	c.358G>A	NM_031443.4	NP_113631.1:p.(Val120Ile)	NC_000007.13:g.45104131G>A	(Likely) benign	3 labs	bd35b5697d
2:1652387 PXDN G>A	2	1652387	1652387	G	A	PXDN	c.3165C>T	NM_012293.3	NP_036425.1:p.(Pro1055=)	NC_000002.11:g.1652387G>A	(Likely) benign	2 labs	bd3d589961
12:2783764 CACNA1C G>A	12	2783764	2783764	G	A	CACNA1C	c.4928G>A	NM_199460.4	NP_955630.3:p.(Arg1643Gln)	NC_000012.11:g.2783764G>A	VUS	2 labs	bd43c3563f
2:179592424 TTN C>T	2	179592424	179592424	C	T	TTN	c.19881G>A	NM_001267550.2	NP_001254479.2:p.(Ser6627=)	NC_000002.11:g.179592424C>T	(Likely) benign	2 labs	bd5435d233
15:73029154 BBS4 C>A	15	73029154	73029154	C	A	BBS4	c.1300C>A	NM_033028.5	NP_149017.2:p.(Leu434Met)	NC_000015.9:g.73029154C>A	VUS	3 labs	bd4e853431
2:179647024 TTN C>T	2	179647024	179647024	C	T	TTN	c.3295G>A	NM_001267550.2	NP_001254479.2:p.(Val1099Met)	NC_000002.11:g.179647024C>T	VUS	3 labs	bd583cd958
3:38627385 SCN5A CAA>C	3	38627385	38627388	CAA	C	SCN5A	c.2582_2583del	NM_001099404.2	NP_001092874.1:p.(Phe861TrpfsTer90)	NC_000003.11:g.38627387_38627388del	(Likely) pathogenic	3 labs	bd5d8748a4
18:28654762 DSC2 G>A	18	28654762	28654762	G	A	DSC2	c.1775C>T	NM_004949.5	NP_004940.1:p.(Ala592Val)	NC_000018.9:g.28654762G>A	(Likely) benign	2 labs	bd5fd459f3
12:33003705 PKP2 ATTTG>A	12	33003705	33003712	ATTTG	A	PKP2	c.1369_1372del	NM_004572.4	NP_004563.2:p.(Gln457Ter)	NC_000012.11:g.33003709_33003712del	(Likely) pathogenic	3 labs	bd641f50c9
3:14175305 TMEM43 G>A	3	14175305	14175305	G	A	TMEM43	c.579G>A	NM_024334.3	NP_077310.1:p.(Ser193=)	NC_000003.11:g.14175305G>A	(Likely) benign	2 labs	bd61f39a60
8:75274121 GDAP1 C>T	8	75274121	75274121	C	T	GDAP1	c.487C>T	NM_018972.4	NP_061845.2:p.(Gln163Ter)	NC_000008.10:g.75274121C>T	(Likely) pathogenic	2 labs	bd6d2789b5
9:131348076 SPTAN1 A>G	9	131348076	131348076	A	G	SPTAN1	c.2646A>G	NM_001375318.1	NP_001362247.1:p.(Gln882=)	NC_000009.11:g.131348076A>G	(Likely) benign	2 labs	bd72feeb7d
11:2466464 KCNQ1 G>A	11	2466464	2466464	G	A	KCNQ1	c.136G>A	NM_000218.3	NP_000209.2:p.(Ala46Thr)	NC_000011.9:g.2466464G>A	VUS	3 labs	bd79410e87
7:6026808 PMS2 G>A	7	6026808	6026808	G	A	PMS2	c.1588C>T	NM_000535.7	NP_000526.2:p.(Gln530Ter)	NC_000007.13:g.6026808G>A	(Likely) pathogenic	2 labs	bd7a2c19bd
2:179474317 TTN T>C	2	179474317	179474317	T	C	TTN	c.51740-20A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179474317T>C	(Likely) benign	2 labs	bd8041087e
2:179455477 TTN G>A	2	179455477	179455477	G	A	TTN	c.60975C>T	NM_001267550.2	NP_001254479.2:p.(Ile20325=)	NC_000002.11:g.179455477G>A	(Likely) benign	2 labs	bd889860e3
1:155204994 GBA1 C>G	1	155204994	155204994	C	G	GBA1	c.1497G>C	NM_001005741.3	NP_001005741.1:p.(Val499=)	NC_000001.10:g.155204994C>G	(Likely) benign	2 labs	bd8916918f
13:32914286 BRCA2 CAT>C	13	32914286	32914289	CAT	C	BRCA2	c.5796_5797del	NM_000059.4	NP_000050.3:p.(His1932GlnfsTer12)	NC_000013.10:g.32914288_32914289del	(Likely) pathogenic	3 labs	bd929e50e3
6:32012246 TNXB G>A	6	32012246	32012246	G	A	TNXB	c.11169C>T	NM_019105.8	NP_061978.6:p.(Ser3723=)	NC_000006.11:g.32012246G>A	(Likely) benign	2 labs	bda95e67cb
X:107978993 IRS4 G>T	X	107978993	107978993	G	T	IRS4	c.582C>A	NM_003604.2	NP_003595.1:p.(Leu194=)	NC_000023.10:g.107978993G>T	(Likely) benign	2 labs	bdb4780529
2:47657020 MSH2 C>T	2	47657020	47657020	C	T	MSH2	c.1216C>T	NM_000251.3	NP_000242.1:p.(Arg406Ter)	NC_000002.11:g.47657020C>T	(Likely) pathogenic	4 labs	bdb7b0281d
10:18828446 CACNB2 C>A	10	18828446	18828446	C	A	CACNB2	c.1611C>A	NM_000724.4	NP_000715.2:p.(Asp537Glu)	NC_000010.10:g.18828446C>A	(Likely) benign	2 labs	bdd0868a4f
16:88793377 PIEZO1 G>A	16	88793377	88793377	G	A	PIEZO1	c.3456-11C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793377G>A	(Likely) benign	2 labs	bddfaa8ba6
1:5964799 NPHP4 C>A	1	5964799	5964799	C	A	NPHP4	c.2021G>T	NM_015102.5	NP_055917.1:p.(Arg674Leu)	NC_000001.10:g.5964799C>A	(Likely) benign	2 labs	bdecc4b3f5
7:128483879 FLNC C>T	7	128483879	128483879	C	T	FLNC	c.2841C>T	NM_001458.5	NP_001449.3:p.(Gly947=)	NC_000007.13:g.128483879C>T	(Likely) benign	2 labs	bdf5adbb65
10:124221227 HTRA1 C>T	10	124221227	124221227	C	T	HTRA1	c.59C>T	NM_002775.5	NP_002766.1:p.(Ala20Val)	NC_000010.10:g.124221227C>T	(Likely) benign	2 labs	bdf62d0459
3:123419073 MYLK T>C	3	123419073	123419073	T	C	MYLK	c.3242A>G	NM_053025.4	NP_444253.3:p.(His1081Arg)	NC_000003.11:g.123419073T>C	(Likely) benign	2 labs	be0e1dc167
2:207014657 NDUFS1 TAAAAA>T	2	207014657	207014682	TAAAAA	T	NDUFS1	c.154-13_154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014678_207014682del	(Likely) benign	2 labs	be0e980fb9
1:235543476 TBCE TTG>T	1	235543476	235543529	TTG	T	TBCE	c.100+64_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543528_235543529del	(Likely) benign	2 labs	be0f0827ce
4:656978 PDE6B T>C	4	656978	656978	T	C	PDE6B	c.1920+2T>C	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.656978T>C	(Likely) pathogenic	2 labs	be195d1838
1:65858151 DNAJC6 C>T	1	65858151	65858151	C	T	DNAJC6	c.1506C>T	NM_001256864.2	NP_001243793.1:p.(His502=)	NC_000001.10:g.65858151C>T	(Likely) benign	2 labs	be19da8c27
2:73717194 ALMS1 C>T	2	73717194	73717194	C	T	ALMS1	c.8111C>T	NM_015120.4	NP_055935.4:p.(Pro2704Leu)	NC_000002.11:g.73717194C>T	(Likely) benign	2 labs	be1d120f54
9:34372783 MYORG G>C	9	34372783	34372783	G	C	MYORG	c.159C>G	NM_020702.5	NP_065753.2:p.(Asp53Glu)	NC_000009.11:g.34372783G>C	(Likely) benign	2 labs	be27cbd432
1:227077809 PSEN2 C>T	1	227077809	227077809	C	T	PSEN2	c.861C>T	NM_000447.3	NP_000438.2:p.(Pro287=)	NC_000001.10:g.227077809C>T	(Likely) benign	2 labs	be2fffaca7
16:81969847 PLCG2 C>T	16	81969847	81969847	C	T	PLCG2	c.2916C>T	NM_002661.5	NP_002652.2:p.(Val972=)	NC_000016.9:g.81969847C>T	(Likely) benign	2 labs	be309c4875
9:108467871 TMEM38B A>G	9	108467871	108467871	A	G	TMEM38B	c.113-7A>G	NM_018112.3	NP_060582.1:p.?	NC_000009.11:g.108467871A>G	(Likely) benign	2 labs	be4ff8d8be
1:12030714 PLOD1 C>T	1	12030714	12030714	C	T	PLOD1	c.1756-13C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12030714C>T	(Likely) benign	2 labs	be53bf5ca6
20:42744891 JPH2 C>T	20	42744891	42744891	C	T	JPH2	c.1424G>A	NM_020433.5	NP_065166.2:p.(Arg475His)	NC_000020.10:g.42744891C>T	(Likely) benign	2 labs	be5ad5ebb7
15:29561415 NSMCE3 G>C	15	29561415	29561415	G	C	NSMCE3	c.495C>G	NM_138704.4	NP_619649.1:p.(Ala165=)	NC_000015.9:g.29561415G>C	(Likely) benign	2 labs	be5c94e14c
3:45542003 LARS2 C>T	3	45542003	45542003	C	T	LARS2	c.1692C>T	NM_015340.4	NP_056155.1:p.(Ala564=)	NC_000003.11:g.45542003C>T	(Likely) benign	2 labs	be5ed430e7
2:238283647 COL6A3 G>A	2	238283647	238283647	G	A	COL6A3	c.3087C>T	NM_004369.4	NP_004360.2:p.(Asp1029=)	NC_000002.11:g.238283647G>A	(Likely) benign	3 labs	be608cd403
14:23863387 MYH6 C>A	14	23863387	23863387	C	A	MYH6	c.2575G>T	NM_002471.4	NP_002462.2:p.(Gly859Trp)	NC_000014.8:g.23863387C>A	VUS	3 labs	be701f241e
1:10364335 KIF1B T>C	1	10364335	10364335	T	C	KIF1B	c.3092T>C	NM_183416.4	NP_904325.2:p.(Ile1031Thr)	NC_000001.10:g.10364335T>C	(Likely) benign	2 labs	be7afaa84b
15:45396354 DUOX2 C>G	15	45396354	45396354	C	G	DUOX2	c.2544G>C	NM_001363711.2	NP_001350640.1:p.(Leu848=)	NC_000015.9:g.45396354C>G	(Likely) benign	2 labs	be8c026bd4
15:85383236 ALPK3 T>C	15	85383236	85383236	T	C	ALPK3	c.726T>C	NM_020778.5	NP_065829.4:p.(Pro242=)	NC_000015.9:g.85383236T>C	(Likely) benign	2 labs	be90de4812
16:23647108 PALB2 T>TA	16	23647108	23647109	T	TA	PALB2	c.758dup	NM_024675.4	NP_078951.2:p.(Ser254IlefsTer3)	NC_000016.9:g.23647109dup	(Likely) pathogenic	3 labs	bea3a6709b
9:137694853 COL5A1 G>C	9	137694853	137694853	G	C	COL5A1	c.3114+12G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137694853G>C	(Likely) benign	2 labs	bea278d699
2:29443617 ALK C>G	2	29443617	29443617	C	G	ALK	c.3600G>C	NM_004304.5	NP_004295.2:p.(Ala1200=)	NC_000002.11:g.29443617C>G	(Likely) benign	2 labs	bea5150e5c
13:32914260 BRCA2 A>C	13	32914260	32914260	A	C	BRCA2	c.5768A>C	NM_000059.4	NP_000050.3:p.(Asp1923Ala)	NC_000013.10:g.32914260A>C	(Likely) benign	6 labs	beb289206a
13:52520507 ATP7B C>T	13	52520507	52520507	C	T	ATP7B	c.2973G>A	NM_000053.4	NP_000044.2:p.(Thr991=)	NC_000013.10:g.52520507C>T	(Likely) benign	2 labs	beb67cc418
17:6328907 AIPL1 G>A	17	6328907	6328907	G	A	AIPL1	c.1028C>T	NM_014336.5	NP_055151.3:p.(Pro343Leu)	NC_000017.10:g.6328907G>A	VUS	3 labs	beb986ea69
2:179460228 TTN A>T	2	179460228	179460228	A	T	TTN	c.57847+6T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460228A>T	(Likely) benign	3 labs	bebb95209c
5:177422823 PROP1 C>T	5	177422823	177422823	C	T	PROP1	c.109+3G>A	NM_006261.5	NP_006252.4:p.?	NC_000005.9:g.177422823C>T	(Likely) benign	2 labs	bec4207292
16:68857382 CDH1 C>T	16	68857382	68857382	C	T	CDH1	c.2017C>T	NM_004360.5	NP_004351.1:p.(Gln673Ter)	NC_000016.9:g.68857382C>T	(Likely) pathogenic	2 labs	bed3e30fca
2:179300971 PRKRA G>A	2	179300971	179300971	G	A	PRKRA	c.652C>T	NM_001139517.1	NP_001132989.1:p.(Leu218=)	NC_000002.11:g.179300971G>A	(Likely) benign	2 labs	bed6ed1620
7:150644952 KCNH2 C>T	7	150644952	150644952	C	T	KCNH2	c.2707G>A	NM_000238.4	NP_000229.1:p.(Gly903Arg)	NC_000007.13:g.150644952C>T	VUS	2 labs	bedd93e866
4:114277094 ANK2 C>T	4	114277094	114277094	C	T	ANK2	c.7320C>T	NM_001148.6	NP_001139.3:p.(Ser2440=)	NC_000004.11:g.114277094C>T	(Likely) benign	2 labs	bee26ffb0b
1:237850816 RYR2 C>T	1	237850816	237850816	C	T	RYR2	c.9067+12C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850816C>T	(Likely) benign	5 labs	beee43b742
2:179579997 TTN A>C	2	179579997	179579997	A	C	TTN	c.25922-6T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179579997A>C	VUS	3 labs	befe1ea62d
1:211844535 NEK2 C>G	1	211844535	211844535	C	G	NEK2	c.638+9G>C	NM_002497.4	NP_002488.1:p.?	NC_000001.10:g.211844535C>G	(Likely) benign	2 labs	bef7a32ccd
2:179423237 TTN T>C	2	179423237	179423237	T	C	TTN	c.79245A>G	NM_133378.4	NP_596869.4:p.(Glu26415=)	NC_000002.11:g.179423237T>C	(Likely) benign	4 labs	bf010940b2
1:3329267 PRDM16 G>A	1	3329267	3329267	G	A	PRDM16	c.2506G>A	NM_022114.4	NP_071397.3:p.(Gly836Ser)	NC_000001.10:g.3329267G>A	(Likely) benign	3 labs	bf17bd7887
17:63534420 AXIN2 G>A	17	63534420	63534420	G	A	AXIN2	c.1101C>T	NM_004655.4	NP_004646.3:p.(Pro367=)	NC_000017.10:g.63534420G>A	(Likely) benign	4 labs	bf0d3a9f96
12:32974348 PKP2 T>C	12	32974348	32974348	T	C	PKP2	c.2087A>G	NM_004572.4	NP_004563.2:p.(Asn696Ser)	NC_000012.11:g.32974348T>C	(Likely) benign	2 labs	bf184ae4c7
4:6302978 WFS1 C>T	4	6302978	6302978	C	T	WFS1	c.1456C>T	NM_006005.3	NP_005996.2:p.(Gln486Ter)	NC_000004.11:g.6302978C>T	(Likely) pathogenic	2 labs	bf1f479dec
1:237656289 RYR2 C>T	1	237656289	237656289	C	T	RYR2	c.1863C>T	NM_001035.3	NP_001026.2:p.(His621=)	NC_000001.10:g.237656289C>T	(Likely) benign	4 labs	bf2773ba79
16:15932098 MYH11 C>T	16	15932098	15932098	C	T	MYH11	c.12G>A	NM_001040113.2	NP_001035202.1:p.(Lys4=)	NC_000016.9:g.15932098C>T	(Likely) benign	4 labs	bf3093d825
2:179470006 TTN CTTAATAG>C	2	179470006	179470015	CTTAATAG	C	TTN	c.53891_53897del	NM_001267550.2	NP_001254479.2:p.(Thr17964SerfsTer4)	NC_000002.11:g.179470009_179470015del	(Likely) pathogenic	2 labs	bf328bb13b
11:121421299 SORL1 G>A	11	121421299	121421299	G	A	SORL1	c.2186G>A	NM_003105.6	NP_003096.2:p.(Arg729Gln)	NC_000011.9:g.121421299G>A	VUS	2 labs	bf4051095c
3:123440967 MYLK G>A	3	123440967	123440967	G	A	MYLK	c.1804+8C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123440967G>A	(Likely) benign	3 labs	bf417c3fb1
2:179393148 TTN T>C	2	179393148	179393148	T	C	TTN	c.99526A>G	NM_133378.4	NP_596869.4:p.(Ile33176Val)	NC_000002.11:g.179393148T>C	VUS	2 labs	bf59cf0fd0
11:2188238 TH C>T	11	2188238	2188238	C	T	TH	c.813G>A	NM_199292.3	NP_954986.2:p.(Lys271=)	NC_000011.9:g.2188238C>T	(Likely) benign	3 labs	bf6529f111
2:179404491 TTN CCT>C	2	179404491	179404493	CCT	C	TTN	c.98299_98300del	NM_001267550.2	NP_001254479.2:p.(Arg32767GlyfsTer2)	NC_000002.11:g.179404492_179404493del	(Likely) pathogenic	2 labs	bf65e04f2a
15:43038400 TTBK2 G>A	15	43038400	43038400	G	A	TTBK2	c.3328C>T	NM_173500.4	NP_775771.3:p.(Arg1110Cys)	NC_000015.9:g.43038400G>A	VUS	2 labs	bf674131fb
7:26237238 HNRNPA2B1 A>G	7	26237238	26237238	A	G	HNRNPA2B1	c.153+4T>C	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26237238A>G	(Likely) benign	3 labs	bf6a7b1672
11:6661600 DCHS1 G>T	11	6661600	6661600	G	T	DCHS1	c.1245C>A	NM_003737.4	NP_003728.1:p.(Ser415Arg)	NC_000011.9:g.6661600G>T	(Likely) benign	2 labs	bf6e27c81c
X:148582573 IDS GA>G	X	148582573	148582584	GA	G	IDS	c.419-6del	NM_000202.8	NP_000193.1:p.?	NC_000023.10:g.148582584del	(Likely) benign	2 labs	bf765b44e5
2:179413576 TTN T>G	2	179413576	179413576	T	G	TTN	c.92777A>C	NM_001267550.2	NP_001254479.2:p.(Asp30926Ala)	NC_000002.11:g.179413576T>G	VUS	2 labs	bf80d5181b
2:220493861 SLC4A3 C>T	2	220493861	220493861	C	T	SLC4A3	c.218-5C>T	NM_001326559.2	NP_001313488.2:p.?	NC_000002.11:g.220493861C>T	(Likely) benign	2 labs	bf85b1f240
2:179477254 TTN A>G	2	179477254	179477254	A	G	TTN	c.49998T>C	NM_001267550.2	NP_001254479.2:p.(Asn16666=)	NC_000002.11:g.179477254A>G	(Likely) benign	2 labs	bf8970db8d
12:110019269 MVK C>T	12	110019269	110019269	C	T	MVK	c.441C>T	NM_000431.4	NP_000422.1:p.(Ala147=)	NC_000012.11:g.110019269C>T	(Likely) benign	3 labs	bf8f55146a
12:48374328 COL2A1 G>A	12	48374328	48374328	G	A	COL2A1	c.2625+9C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48374328G>A	(Likely) benign	3 labs	bf90b64561
12:21991019 ABCC9 C>A	12	21991019	21991019	C	A	ABCC9	c.3559G>T	NM_020297.4	NP_064693.2:p.(Ala1187Ser)	NC_000012.11:g.21991019C>A	VUS	2 labs	bf951fe7c8
14:51080051 ATL1 C>T	14	51080051	51080051	C	T	ATL1	c.705C>T	NM_001127713.1	NP_001121185.1:p.(Phe235=)	NC_000014.8:g.51080051C>T	(Likely) benign	2 labs	bfa00f37e6
9:134397427 POMT1 C>A	9	134397427	134397427	C	A	POMT1	c.1826-7C>A	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134397427C>A	(Likely) benign	3 labs	bfa4ef02f0
6:51695657 PKHD1 A>G	6	51695657	51695657	A	G	PKHD1	c.8302+2T>C	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51695657A>G	(Likely) pathogenic	2 labs	bfa9f44daa
4:122782814 BBS7 G>A	4	122782814	122782814	G	A	BBS7	c.186C>T	NM_176824.3	NP_789794.1:p.(Pro62=)	NC_000004.11:g.122782814G>A	(Likely) benign	3 labs	bfad9d5a79
13:32911756 BRCA2 T>C	13	32911756	32911756	T	C	BRCA2	c.3264T>C	NM_000059.4	NP_000050.3:p.(Pro1088=)	NC_000013.10:g.32911756T>C	(Likely) benign	6 labs	bfbc5f6636
13:32893474 BRCA2 A>G	13	32893474	32893474	A	G	BRCA2	c.316+12A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893474A>G	(Likely) benign	4 labs	bfc0f01c13
15:73616121 HCN4 G>A	15	73616121	73616121	G	A	HCN4	c.2313C>T	NM_005477.3	NP_005468.1:p.(Pro771=)	NC_000015.9:g.73616121G>A	(Likely) benign	2 labs	bfc60dac83
1:116268178 CASQ2 GAAAAAAA>G	1	116268178	116268201	GAAAAAAA	G	CASQ2	c.738-11_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268195_116268201del	(Likely) benign	2 labs	bfd06e4a96
16:16295926 ABCC6 T>C	16	16295926	16295926	T	C	ABCC6	c.766A>G	NM_001351800.1	NP_001338729.1:p.(Asn256Asp)	NC_000016.9:g.16295926T>C	VUS	4 labs	bfdcbdf357
22:38370081 SOX10 G>A	22	38370081	38370081	G	A	SOX10	c.822C>T	NM_006941.4	NP_008872.1:p.(Gly274=)	NC_000022.10:g.38370081G>A	(Likely) benign	2 labs	bfe31023c1
1:74957824 TNNI3K C>T	1	74957824	74957824	C	T	TNNI3K	c.2225C>T	NM_015978.3	NP_057062.1:p.(Pro742Leu)	NC_000001.10:g.74957824C>T	VUS	3 labs	bfe3de43e0
10:85970897 CDHR1 G>A	10	85970897	85970897	G	A	CDHR1	c.1461G>A	NM_033100.4	NP_149091.1:p.(Gly487=)	NC_000010.10:g.85970897G>A	(Likely) benign	2 labs	bff4a77c76
14:64519038 SYNE2 G>A	14	64519038	64519038	G	A	SYNE2	c.8407G>A	NM_182914.3	NP_878918.2:p.(Asp2803Asn)	NC_000014.8:g.64519038G>A	(Likely) benign	2 labs	bffe14361e
X:128691863 OCRL G>T	X	128691863	128691863	G	T	OCRL	c.375G>T	NM_000276.4	NP_000267.2:p.(Glu125Asp)	NC_000023.10:g.128691863G>T	(Likely) benign	2 labs	bfff6b1ea5
16:88503433 ZNF469 C>G	16	88503433	88503433	C	G	ZNF469	c.9555C>G	NM_001367624.2	NP_001354553.1:p.(Ala3185=)	NC_000016.9:g.88503433C>G	(Likely) benign	2 labs	c006210d37
4:170506703 NEK1 A>G	4	170506703	170506703	A	G	NEK1	c.607-3T>C	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170506703A>G	(Likely) benign	2 labs	c007d7f397
1:94463648 ABCA4 G>A	1	94463648	94463648	G	A	ABCA4	c.6498C>T	NM_000350.3	NP_000341.2:p.(Ile2166=)	NC_000001.10:g.94463648G>A	(Likely) benign	2 labs	c01e92e210
11:1954967 TNNT3 G>A	11	1954967	1954967	G	A	TNNT3	c.164G>A	NM_001297646.2	NP_001284575.1:p.(Arg55His)	NC_000011.9:g.1954967G>A	(Likely) pathogenic	2 labs	c02787a359
11:117266827 CEP164 G>A	11	117266827	117266827	G	A	CEP164	c.3147G>A	NM_014956.5	NP_055771.4:p.(Glu1049=)	NC_000011.9:g.117266827G>A	(Likely) benign	2 labs	c0308bd300
2:179417175 TTN A>G	2	179417175	179417175	A	G	TTN	c.90452T>C	NM_001267550.2	NP_001254479.2:p.(Leu30151Pro)	NC_000002.11:g.179417175A>G	VUS	2 labs	c03a76e581
20:4680290 PRNP G>A	20	4680290	4680290	G	A	PRNP	c.424G>A	NM_000311.5	NP_000302.1:p.(Gly142Ser)	NC_000020.10:g.4680290G>A	(Likely) benign	2 labs	c040b88a8b
1:1168141 B3GALT6 G>A	1	1168141	1168141	G	A	B3GALT6	c.483G>A	NM_080605.4	NP_542172.2:p.(Ala161=)	NC_000001.10:g.1168141G>A	(Likely) benign	2 labs	c043f21d62
X:53223819 KDM5C C>T	X	53223819	53223819	C	T	KDM5C	c.3540G>A	NM_004187.5	NP_004178.2:p.(Thr1180=)	NC_000023.10:g.53223819C>T	(Likely) benign	2 labs	c0528c1d6e
9:139396480 NOTCH1 G>A	9	139396480	139396480	G	A	NOTCH1	c.5445C>T	NM_017617.5	NP_060087.3:p.(Asp1815=)	NC_000009.11:g.139396480G>A	(Likely) benign	2 labs	c05662bdc8
2:47707956 MSH2 G>A	2	47707956	47707956	G	A	MSH2	c.2580G>A	NM_000251.3	NP_000242.1:p.(Ser860=)	NC_000002.11:g.47707956G>A	(Likely) benign	2 labs	c05c4606d5
2:48033707 MSH6 T>TAATCTCCC	2	48033707	48033716	T	TAATCTCCC	MSH6	c.3920_3927dup	NM_000179.3	NP_000170.1:p.(Glu1310IlefsTer20)	NC_000002.11:g.48033709_48033716dup	(Likely) pathogenic	2 labs	c05d1d2930
16:57938746 CNGB1 G>A	16	57938746	57938746	G	A	CNGB1	c.2526C>T	NM_001297.5	NP_001288.3:p.(Thr842=)	NC_000016.9:g.57938746G>A	(Likely) benign	2 labs	c0616a6c78
12:33003917 PKP2 A>G	12	33003917	33003917	A	G	PKP2	c.1171-10T>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003917A>G	(Likely) benign	4 labs	c06e519c5b
1:156108431 LMNA C>T	1	156108431	156108431	C	T	LMNA	c.1851C>T	NM_170707.4	NP_733821.1:p.(Ala617=)	NC_000001.10:g.156108431C>T	(Likely) benign	3 labs	c083162747
14:23865641 MYH6 G>C	14	23865641	23865641	G	C	MYH6	c.2293-12C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23865641G>C	(Likely) benign	2 labs	c08520bf78
2:21225141 APOB G>A	2	21225141	21225141	G	A	APOB	c.13153C>T	NM_000384.3	NP_000375.3:p.(Arg4385Cys)	NC_000002.11:g.21225141G>A	VUS	2 labs	c087895f17
1:26384890 TRIM63 G>A	1	26384890	26384890	G	A	TRIM63	c.822C>T	NM_032588.4	NP_115977.2:p.(Thr274=)	NC_000001.10:g.26384890G>A	(Likely) benign	2 labs	c087c481fd
9:100616700 FOXE1 AGCCGCCGCCGCC>A	9	100616700	100616733	AGCCGCCGCCGCC	A	FOXE1	c.526_537del	NM_004473.4	NP_004464.2:p.(Ala176_Ala179del)	NC_000009.11:g.100616722_100616733del	(Likely) benign	3 labs	c090179a78
20:10393747 MKKS C>T	20	10393747	10393747	C	T	MKKS	c.416G>A	NM_018848.3	NP_061336.1:p.(Arg139Gln)	NC_000020.10:g.10393747C>T	(Likely) benign	2 labs	c09223b193
12:88494960 CEP290 T>C	12	88494960	88494960	T	C	CEP290	c.2991+1655A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88494960T>C	(Likely) pathogenic	3 labs	c0959edce0
1:74797201 TNNI3K T>C	1	74797201	74797201	T	C	TNNI3K	c.512T>C	NM_015978.3	NP_057062.1:p.(Leu171Ser)	NC_000001.10:g.74797201T>C	(Likely) benign	3 labs	c098a2bff8
19:10273372 DNMT1 T>C	19	10273372	10273372	T	C	DNMT1	c.979A>G	NM_001130823.3	NP_001124295.1:p.(Ile327Val)	NC_000019.9:g.10273372T>C	(Likely) benign	3 labs	c09a9e70bc
19:36398458 TYROBP G>A	19	36398458	36398458	G	A	TYROBP	c.119C>T	NM_003332.4	NP_003323.1:p.(Pro40Leu)	NC_000019.9:g.36398458G>A	VUS	2 labs	c0a961a556
17:56296580 MKS1 G>A	17	56296580	56296580	G	A	MKS1	c.12C>T	NM_017777.4	NP_060247.2:p.(Thr4=)	NC_000017.10:g.56296580G>A	(Likely) benign	2 labs	c0af5ea6a6
9:2718181 KCNV2 G>T	9	2718181	2718181	G	T	KCNV2	c.442G>T	NM_133497.4	NP_598004.1:p.(Glu148Ter)	NC_000009.11:g.2718181G>T	(Likely) pathogenic	3 labs	c0b5acc6d3
14:23851241 MYH6 A>G	14	23851241	23851241	A	G	MYH6	c.*8T>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23851241A>G	(Likely) benign	2 labs	c0b8eeae4c
6:7583703 DSP G>A	6	7583703	7583703	G	A	DSP	c.6208G>A	NM_004415.4	NP_004406.2:p.(Asp2070Asn)	NC_000006.11:g.7583703G>A	(Likely) benign	4 labs	c0c0adcc6f
18:34261475 FHOD3 C>T	18	34261475	34261475	C	T	FHOD3	c.1912C>T	NM_001281740.3	NP_001268669.1:p.(Arg638Trp)	NC_000018.9:g.34261475C>T	(Likely) benign	4 labs	c0ce0396b8
3:135975431 PCCB G>A	3	135975431	135975431	G	A	PCCB	c.338G>A	NM_001178014.2	NP_001171485.1:p.(Arg113Gln)	NC_000003.11:g.135975431G>A	VUS	2 labs	c0d4f59ac4
11:47371620 MYBPC3 G>A	11	47371620	47371620	G	A	MYBPC3	c.450C>T	NM_000256.3	NP_000247.2:p.(Pro150=)	NC_000011.9:g.47371620G>A	(Likely) benign	3 labs	c0dca81568
14:64593207 SYNE2 T>C	14	64593207	64593207	T	C	SYNE2	c.13707+10T>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64593207T>C	(Likely) benign	2 labs	c0dd00a816
9:79891127 VPS13A A>G	9	79891127	79891127	A	G	VPS13A	c.2814A>G	NM_033305.3	NP_150648.2:p.(Pro938=)	NC_000009.11:g.79891127A>G	(Likely) benign	2 labs	c0e070ff55
19:55667958 TNNI3 C>T	19	55667958	55667958	C	T	TNNI3	c.150+13G>A	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667958C>T	(Likely) benign	3 labs	c0e15a9b06
13:114321863 GRK1 C>T	13	114321863	114321863	C	T	GRK1	c.162C>T	NM_002929.3	NP_002920.1:p.(Leu54=)	NC_000013.10:g.114321863C>T	(Likely) benign	2 labs	c0f0fa71aa
6:152631802 SYNE1 C>CT	6	152631802	152631812	C	CT	SYNE1	c.16896+20dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152631812dup	(Likely) benign	2 labs	c0e5a2333e
12:40734202 LRRK2 G>A	12	40734202	40734202	G	A	LRRK2	c.6055G>A	NM_198578.4	NP_940980.4:p.(Gly2019Ser)	NC_000012.11:g.40734202G>A	(Likely) pathogenic	4 labs	c0f61d3ab1
1:215823962 USH2A G>A	1	215823962	215823962	G	A	USH2A	c.14315C>T	NM_206933.4	NP_996816.3:p.(Ser4772Phe)	NC_000001.10:g.215823962G>A	(Likely) benign	2 labs	c100b2dbca
1:3347592 PRDM16 C>T	1	3347592	3347592	C	T	PRDM16	c.3441C>T	NM_022114.4	NP_071397.3:p.(Pro1147=)	NC_000001.10:g.3347592C>T	(Likely) benign	2 labs	c102b8d430
1:5950975 NPHP4 C>T	1	5950975	5950975	C	T	NPHP4	c.2257G>A	NM_015102.5	NP_055917.1:p.(Asp753Asn)	NC_000001.10:g.5950975C>T	(Likely) benign	4 labs	c115fd9cf1
5:90012465 ADGRV1 A>G	5	90012465	90012465	A	G	ADGRV1	c.9366A>G	NM_032119.4	NP_115495.3:p.(Thr3122=)	NC_000005.9:g.90012465A>G	(Likely) benign	2 labs	c137f841f8
5:33989510 AMACR C>T	5	33989510	33989510	C	T	AMACR	c.837G>A	NM_014324.6	NP_055139.4:p.(Thr279=)	NC_000005.9:g.33989510C>T	(Likely) benign	3 labs	c13fad7b50
2:29293606 PCARE G>A	2	29293606	29293606	G	A	PCARE	c.3522C>T	NM_001029883.3	NP_001025054.1:p.(Asp1174=)	NC_000002.11:g.29293606G>A	(Likely) benign	2 labs	c148325a99
2:44064963 ABCG5 C>T	2	44064963	44064963	C	T	ABCG5	c.265+10G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44064963C>T	(Likely) benign	2 labs	c14a073b62
18:29099832 DSG2 G>A	18	29099832	29099832	G	A	DSG2	c.148G>A	NM_001943.5	NP_001934.2:p.(Ala50Thr)	NC_000018.9:g.29099832G>A	(Likely) benign	2 labs	c15b98d85c
8:30938513 WRN A>G	8	30938513	30938513	A	G	WRN	c.970A>G	NM_000553.6	NP_000544.2:p.(Thr324Ala)	NC_000008.10:g.30938513A>G	(Likely) benign	2 labs	c15be6e5e9
17:39923673 JUP G>A	17	39923673	39923673	G	A	JUP	c.867C>T	NM_002230.4	NP_002221.1:p.(Thr289=)	NC_000017.10:g.39923673G>A	(Likely) benign	4 labs	c167bc9e5b
4:88537492 DSPP C>T	4	88537492	88537492	C	T	DSPP	c.3678C>T	NM_014208.3	NP_055023.2:p.(Ser1226=)	NC_000004.11:g.88537492C>T	(Likely) benign	2 labs	c1680aeb28
1:3328339 PRDM16 G>A	1	3328339	3328339	G	A	PRDM16	c.1578G>A	NM_022114.4	NP_071397.3:p.(Pro526=)	NC_000001.10:g.3328339G>A	(Likely) benign	2 labs	c168b2d017
16:15809105 MYH11 C>T	16	15809105	15809105	C	T	MYH11	c.5550G>A	NM_001040113.2	NP_001035202.1:p.(Ser1850=)	NC_000016.9:g.15809105C>T	(Likely) benign	3 labs	c16a5305c9
3:63898360 ATXN7 GGCA>G	3	63898360	63898392	GGCA	G	ATXN7	c.116_118del	NM_000333.4	NP_000324.1:p.(Gln39del)	NC_000003.11:g.63898390_63898392del	(Likely) benign	2 labs	c17b112370
7:128480629 FLNC G>A	7	128480629	128480629	G	A	FLNC	c.1577G>A	NM_001458.5	NP_001449.3:p.(Arg526Gln)	NC_000007.13:g.128480629G>A	(Likely) benign	5 labs	c17ea1215c
2:189907869 COL5A2 T>A	2	189907869	189907869	T	A	COL5A2	c.3471+8A>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189907869T>A	(Likely) benign	3 labs	c18237dc63
8:42706014 RNF170 C>T	8	42706014	42706014	C	T	RNF170	c.523G>A	NM_001160224.2	NP_001153696.1:p.(Asp175Asn)	NC_000008.10:g.42706014C>T	(Likely) benign	2 labs	c18a077d0f
8:10468911 RP1L1 C>T	8	10468911	10468911	C	T	RP1L1	c.2697G>A	NM_178857.6	NP_849188.4:p.(Pro899=)	NC_000008.10:g.10468911C>T	(Likely) benign	2 labs	c18d4931f8
7:91630628 AKAP9 G>A	7	91630628	91630628	G	A	AKAP9	c.1397G>A	NM_005751.5	NP_005742.4:p.(Arg466Gln)	NC_000007.13:g.91630628G>A	(Likely) benign	2 labs	c18d627904
1:197403976 CRB1 G>T	1	197403976	197403976	G	T	CRB1	c.2911G>T	NM_001257965.2	NP_001244894.1:p.(Glu971Ter)	NC_000001.10:g.197403976G>T	(Likely) pathogenic	2 labs	c1973e840f
1:11907603 NPPA G>A	1	11907603	11907603	G	A	NPPA	c.123+16C>T	NM_006172.4	NP_006163.1:p.?	NC_000001.10:g.11907603G>A	(Likely) benign	2 labs	c19759cb32
17:29683994 NF1 C>T	17	29683994	29683994	C	T	NF1	c.7755C>T	NM_001042492.3	NP_001035957.1:p.(Ser2585=)	NC_000017.10:g.29683994C>T	(Likely) benign	2 labs	c198278a07
12:994324 WNK1 A>G	12	994324	994324	A	G	WNK1	c.5134A>G	NM_001184985.2	NP_001171914.1:p.(Thr1712Ala)	NC_000012.11:g.994324A>G	(Likely) benign	4 labs	c1985e1428
7:79082418 MAGI2 G>A	7	79082418	79082418	G	A	MAGI2	c.219C>T	NM_012301.4	NP_036433.2:p.(Pro73=)	NC_000007.13:g.79082418G>A	(Likely) benign	2 labs	c19dd91864
13:37581147 EXOSC8 C>T	13	37581147	37581147	C	T	EXOSC8	c.426C>T	NM_181503.3	NP_852480.1:p.(Leu142=)	NC_000013.10:g.37581147C>T	(Likely) benign	2 labs	c1a0fa992b
17:29679401 NF1 A>G	17	29679401	29679401	A	G	NF1	c.7584A>G	NM_001042492.3	NP_001035957.1:p.(Gln2528=)	NC_000017.10:g.29679401A>G	(Likely) benign	3 labs	c1a1c99113
10:90694994 ACTA2 G>A	10	90694994	90694994	G	A	ACTA2	c.1120C>T	NM_001141945.2	NP_001135417.1:p.(Arg374Cys)	NC_000010.10:g.90694994G>A	VUS	2 labs	c1a6f35d11
11:22296094 ANO5 CT>C	11	22296094	22296105	CT	C	ANO5	c.2236-10del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22296105del	(Likely) benign	3 labs	c1a8bfab52
7:128485143 FLNC G>A	7	128485143	128485143	G	A	FLNC	c.3624G>A	NM_001458.5	NP_001449.3:p.(Ala1208=)	NC_000007.13:g.128485143G>A	(Likely) benign	2 labs	c1b6227cb6
12:2622102 CACNA1C G>A	12	2622102	2622102	G	A	CACNA1C	c.1342G>A	NM_000719.7	NP_000710.5:p.(Asp448Asn)	NC_000012.11:g.2622102G>A	VUS	2 labs	c1c7706207
22:51064469 ARSA G>A	22	51064469	51064469	G	A	ARSA	c.1002C>T	NM_000487.6	NP_000478.3:p.(Ser334=)	NC_000022.10:g.51064469G>A	(Likely) benign	2 labs	c1d0c470d8
6:152674455 SYNE1 A>G	6	152674455	152674455	A	G	SYNE1	c.11196T>C	NM_182961.4	NP_892006.3:p.(Ala3732=)	NC_000006.11:g.152674455A>G	(Likely) benign	2 labs	c1d80486bf
4:114302634 ANK2 C>T	4	114302634	114302634	C	T	ANK2	c.*7C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114302634C>T	(Likely) benign	3 labs	c1d9af3a26
19:45409113 APOE C>T	19	45409113	45409113	C	T	APOE	c.-13C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409113C>T	(Likely) benign	2 labs	c1e5e8f39a
3:133667737 SLCO2A1 G>A	3	133667737	133667737	G	A	SLCO2A1	c.940C>T	NM_005630.3	NP_005621.2:p.(Arg314Trp)	NC_000003.11:g.133667737G>A	VUS	2 labs	c1ede10905
2:179427504 TTN C>T	2	179427504	179427504	C	T	TTN	c.75651G>A	NM_133378.4	NP_596869.4:p.(Leu25217=)	NC_000002.11:g.179427504C>T	(Likely) benign	2 labs	c1f43d985d
16:81922813 PLCG2 C>T	16	81922813	81922813	C	T	PLCG2	c.802C>T	NM_002661.5	NP_002652.2:p.(Arg268Trp)	NC_000016.9:g.81922813C>T	(Likely) benign	3 labs	c1f46f0eaf
9:35061191 VCP C>G	9	35061191	35061191	C	G	VCP	c.1195-15G>C	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061191C>G	(Likely) benign	2 labs	c1f85f68ee
15:73615630 HCN4 G>T	15	73615630	73615630	G	T	HCN4	c.2804C>A	NM_005477.3	NP_005468.1:p.(Ser935Tyr)	NC_000015.9:g.73615630G>T	VUS	2 labs	c1fd24708c
10:123279674 FGFR2 G>C	10	123279674	123279674	G	C	FGFR2	c.758C>G	NM_022970.3	NP_075259.4:p.(Pro253Arg)	NC_000010.10:g.123279674G>C	(Likely) pathogenic	5 labs	c201923cc6
15:85383212 ALPK3 C>A	15	85383212	85383212	C	A	ALPK3	c.702C>A	NM_020778.5	NP_065829.4:p.(Gly234=)	NC_000015.9:g.85383212C>A	(Likely) benign	2 labs	c209933330
20:2644614 IDH3B C>T	20	2644614	2644614	C	T	IDH3B	c.74G>A	NM_006899.5	NP_008830.2:p.(Gly25Asp)	NC_000020.10:g.2644614C>T	(Likely) benign	2 labs	c214c05e54
15:91306241 BLM G>A	15	91306241	91306241	G	A	BLM	c.1928G>A	NM_000057.4	NP_000048.1:p.(Arg643His)	NC_000015.9:g.91306241G>A	(Likely) benign	4 labs	c21c948f89
16:15809117 MYH11 C>T	16	15809117	15809117	C	T	MYH11	c.5538G>A	NM_001040113.2	NP_001035202.1:p.(Ala1846=)	NC_000016.9:g.15809117C>T	(Likely) benign	2 labs	c21d379ed7
13:32911794 BRCA2 A>G	13	32911794	32911794	A	G	BRCA2	c.3302A>G	NM_000059.4	NP_000050.3:p.(His1101Arg)	NC_000013.10:g.32911794A>G	(Likely) benign	2 labs	c2260a0ed5
1:5935026 NPHP4 C>T	1	5935026	5935026	C	T	NPHP4	c.2952G>A	NM_015102.5	NP_055917.1:p.(Thr984=)	NC_000001.10:g.5935026C>T	(Likely) benign	2 labs	c22ed4dc97
16:16308294 ABCC6 C>T	16	16308294	16308294	C	T	ABCC6	c.487G>A	NM_001171.6	NP_001162.5:p.(Asp163Asn)	NC_000016.9:g.16308294C>T	(Likely) benign	2 labs	c22f58615b
2:179438371 TTN C>A	2	179438371	179438371	C	A	TTN	c.72488G>T	NM_001267550.2	NP_001254479.2:p.(Arg24163Leu)	NC_000002.11:g.179438371C>A	VUS	2 labs	c23556484b
4:15602845 CC2D2A G>A	4	15602845	15602845	G	A	CC2D2A	c.4675-15G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15602845G>A	(Likely) benign	2 labs	c248bb1834
17:41246783 BRCA1 C>T	17	41246783	41246783	C	T	BRCA1	c.765G>A	NM_007294.4	NP_009225.1:p.(Glu255=)	NC_000017.10:g.41246783C>T	(Likely) benign	4 labs	c256dba399
13:52520471 ATP7B C>T	13	52520471	52520471	C	T	ATP7B	c.3009G>A	NM_000053.4	NP_000044.2:p.(Ala1003=)	NC_000013.10:g.52520471C>T	(Likely) benign	2 labs	c257dc15a7
3:38620907 SCN5A G>T	3	38620907	38620907	G	T	SCN5A	c.3308C>A	NM_001099404.2	NP_001092874.1:p.(Ser1103Tyr)	NC_000003.11:g.38620907G>T	(Likely) benign	5 labs	c25c16ca7f
20:45354440 SLC2A10 C>T	20	45354440	45354440	C	T	SLC2A10	c.765C>T	NM_030777.4	NP_110404.1:p.(Ser255=)	NC_000020.10:g.45354440C>T	(Likely) benign	4 labs	c260b425d3
18:47518759 MYO5B G>A	18	47518759	47518759	G	A	MYO5B	c.655C>T	NM_001080467.3	NP_001073936.1:p.(Arg219Cys)	NC_000018.9:g.47518759G>A	VUS	3 labs	c2638bac79
17:48685305 CACNA1G C>A	17	48685305	48685305	C	A	CACNA1G	c.4630C>A	NM_198377.3	NP_938191.2:p.(Arg1544=)	NC_000017.10:g.48685305C>A	(Likely) benign	2 labs	c266fcc3c4
7:151573647 PRKAG2 C>A	7	151573647	151573647	C	A	PRKAG2	c.59G>T	NM_016203.4	NP_057287.2:p.(Ser20Ile)	NC_000007.13:g.151573647C>A	(Likely) benign	5 labs	c2746d66b0
11:62384178 B3GAT3 C>T	11	62384178	62384178	C	T	B3GAT3	c.709G>A	NM_012200.4	NP_036332.2:p.(Val237Met)	NC_000011.9:g.62384178C>T	(Likely) benign	2 labs	c26f670a98
17:41276039 BRCA1 G>A	17	41276039	41276039	G	A	BRCA1	c.75C>T	NM_007294.4	NP_009225.1:p.(Pro25=)	NC_000017.10:g.41276039G>A	(Likely) benign	5 labs	c2703b6097
12:22028666 ABCC9 A>G	12	22028666	22028666	A	G	ABCC9	c.2020-6T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22028666A>G	(Likely) benign	2 labs	c270738f23
5:127641567 FBN2 G>A	5	127641567	127641567	G	A	FBN2	c.5496C>T	NM_001999.4	NP_001990.2:p.(Arg1832=)	NC_000005.9:g.127641567G>A	(Likely) benign	3 labs	c2737c7294
17:72916226 USH1G C>T	17	72916226	72916226	C	T	USH1G	c.705G>A	NM_173477.5	NP_775748.2:p.(Glu235=)	NC_000017.10:g.72916226C>T	(Likely) benign	2 labs	c27a4619af
4:114280145 ANK2 G>A	4	114280145	114280145	G	A	ANK2	c.10371G>A	NM_001148.6	NP_001139.3:p.(Thr3457=)	NC_000004.11:g.114280145G>A	(Likely) benign	3 labs	c284dd94ff
1:197446848 CRB1 G>A	1	197446848	197446848	G	A	CRB1	c.3988G>A	NM_001257965.2	NP_001244894.1:p.(Ala1330Thr)	NC_000001.10:g.197446848G>A	VUS	2 labs	c298f87d66
14:76211482 TTLL5 C>T	14	76211482	76211482	C	T	TTLL5	c.1326C>T	NM_015072.5	NP_055887.3:p.(Leu442=)	NC_000014.8:g.76211482C>T	(Likely) benign	2 labs	c2a4b70e96
6:119245200 MCM9 T>C	6	119245200	119245200	T	C	MCM9	c.397A>G	NM_017696.3	NP_060166.2:p.(Thr133Ala)	NC_000006.11:g.119245200T>C	(Likely) benign	2 labs	c2a4f64f1f
9:139405181 NOTCH1 G>A	9	139405181	139405181	G	A	NOTCH1	c.2664C>T	NM_017617.5	NP_060087.3:p.(His888=)	NC_000009.11:g.139405181G>A	(Likely) benign	4 labs	c2b2cc5c52
2:179610619 TTN C>G	2	179610619	179610619	C	G	TTN	c.16508G>C	NM_133379.5	NP_596870.2:p.(Ser5503Thr)	NC_000002.11:g.179610619C>G	(Likely) benign	4 labs	c2b33ece88
1:57347259 C8A T>C	1	57347259	57347259	T	C	C8A	c.606T>C	NM_000562.3	NP_000553.1:p.(Asp202=)	NC_000001.10:g.57347259T>C	(Likely) benign	3 labs	c2bae4a816
18:7015748 LAMA1 C>T	18	7015748	7015748	C	T	LAMA1	c.3099G>A	NM_005559.4	NP_005550.2:p.(Trp1033Ter)	NC_000018.9:g.7015748C>T	(Likely) pathogenic	2 labs	c2bc528f5b
12:1908868 CACNA2D4 G>A	12	1908868	1908868	G	A	CACNA2D4	c.2975-7C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1908868G>A	(Likely) benign	2 labs	c2c04bb668
7:91843242 KRIT1 T>C	7	91843242	91843242	T	C	KRIT1	c.1782A>G	NM_194456.1	NP_919438.1:p.(Ala594=)	NC_000007.13:g.91843242T>C	(Likely) benign	2 labs	c2d07745f4
5:156021961 SGCD T>C	5	156021961	156021961	T	C	SGCD	c.402T>C	NM_000337.6	NP_000328.2:p.(Ala134=)	NC_000005.9:g.156021961T>C	(Likely) benign	2 labs	c2d5bb018a
5:179250906 SQSTM1 C>T	5	179250906	179250906	C	T	SQSTM1	c.350C>T	NM_003900.5	NP_003891.1:p.(Ala117Val)	NC_000005.9:g.179250906C>T	(Likely) benign	3 labs	c2d8510ab8
6:17633077 NUP153 T>TAA	6	17633077	17633094	T	TAA	NUP153	c.2558-4_2558-3dup	NM_001278209.2	NP_001265138.1:p.?	NC_000006.11:g.17633093_17633094dup	(Likely) benign	2 labs	c2e732334f
2:21224850 APOB T>C	2	21224850	21224850	T	C	APOB	c.13444A>G	NM_000384.3	NP_000375.3:p.(Ile4482Val)	NC_000002.11:g.21224850T>C	(Likely) benign	2 labs	c2e814f41c
20:61981716 CHRNA4 C>T	20	61981716	61981716	C	T	CHRNA4	c.1047G>A	NM_000744.7	NP_000735.1:p.(Leu349=)	NC_000020.10:g.61981716C>T	(Likely) benign	2 labs	c2eb0e6701
6:33271780 TAPBP T>C	6	33271780	33271780	T	C	TAPBP	c.1301-14A>G	NM_003190.5	NP_003181.3:p.?	NC_000006.11:g.33271780T>C	(Likely) benign	2 labs	c2feaab18a
11:116706766 APOA1 C>A	11	116706766	116706766	C	A	APOA1	c.562G>T	NM_000039.3	NP_000030.1:p.(Ala188Ser)	NC_000011.9:g.116706766C>A	(Likely) benign	2 labs	c304a9f2af
15:73660281 HCN4 C>T	15	73660281	73660281	C	T	HCN4	c.331G>A	NM_005477.3	NP_005468.1:p.(Gly111Ser)	NC_000015.9:g.73660281C>T	VUS	2 labs	c3098bfa61
2:179497690 TTN A>G	2	179497690	179497690	A	G	TTN	c.43168T>C	NM_001267550.2	NP_001254479.2:p.(Phe14390Leu)	NC_000002.11:g.179497690A>G	VUS	2 labs	c314a8b288
22:37906308 CARD10 GCTCCTT>G	22	37906308	37906343	GCTCCTT	G	CARD10	c.814_819del	NM_014550.4	NP_055365.2:p.(Lys272_Glu273del)	NC_000022.10:g.37906338_37906343del	(Likely) benign	2 labs	c31e4e1c67
17:41226423 BRCA1 C>T	17	41226423	41226423	C	T	BRCA1	c.4600G>A	NM_007294.4	NP_009225.1:p.(Val1534Met)	NC_000017.10:g.41226423C>T	(Likely) benign	4 labs	c31fc49676
2:179549076 TTN C>T	2	179549076	179549076	C	T	TTN	c.32703G>A	NM_001267550.2	NP_001254479.2:p.(Glu10901=)	NC_000002.11:g.179549076C>T	(Likely) benign	2 labs	c32f7430d3
10:67829121 CTNNA3 T>C	10	67829121	67829121	T	C	CTNNA3	c.2104A>G	NM_013266.4	NP_037398.2:p.(Ile702Val)	NC_000010.10:g.67829121T>C	VUS	3 labs	c334c7a389
10:85961556 CDHR1 C>G	10	85961556	85961556	C	G	CDHR1	c.526-7C>G	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85961556C>G	(Likely) benign	2 labs	c34196da60
16:88501145 ZNF469 C>A	16	88501145	88501145	C	A	ZNF469	c.7267C>A	NM_001367624.2	NP_001354553.1:p.(Pro2423Thr)	NC_000016.9:g.88501145C>A	(Likely) benign	2 labs	c343ec32c5
4:36286160 DTHD1 T>C	4	36286160	36286160	T	C	DTHD1	c.834T>C	NM_001170700.3	NP_001164171.2:p.(Thr278=)	NC_000004.11:g.36286160T>C	(Likely) benign	2 labs	c358310ec6
15:31294965 TRPM1 G>A	15	31294965	31294965	G	A	TRPM1	c.3989C>T	NM_001252020.2	NP_001238949.1:p.(Thr1330Met)	NC_000015.9:g.31294965G>A	(Likely) benign	2 labs	c35fbd06ec
7:128478371 FLNC G>C	7	128478371	128478371	G	C	FLNC	c.1098G>C	NM_001458.5	NP_001449.3:p.(Val366=)	NC_000007.13:g.128478371G>C	(Likely) benign	2 labs	c35fcd3a32
15:65943265 SLC24A1 C>T	15	65943265	65943265	C	T	SLC24A1	c.2778C>T	NM_004727.3	NP_004718.1:p.(Pro926=)	NC_000015.9:g.65943265C>T	(Likely) benign	2 labs	c371949f2a
14:20920216 OSGEP A>G	14	20920216	20920216	A	G	OSGEP	c.328T>C	NM_017807.4	NP_060277.1:p.(Cys110Arg)	NC_000014.8:g.20920216A>G	(Likely) pathogenic	3 labs	c373f3840b
2:179457379 TTN CAG>C	2	179457379	179457381	CAG	C	TTN	c.59351_59352del	NM_001267550.2	NP_001254479.2:p.(Pro19784ArgfsTer5)	NC_000002.11:g.179457380_179457381del	(Likely) pathogenic	4 labs	c37edddd75
15:48748978 FBN1 T>C	15	48748978	48748978	T	C	FBN1	c.5297-19A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48748978T>C	(Likely) benign	2 labs	c37be9ebb3
8:10469025 RP1L1 G>A	8	10469025	10469025	G	A	RP1L1	c.2583C>T	NM_178857.6	NP_849188.4:p.(Pro861=)	NC_000008.10:g.10469025G>A	(Likely) benign	2 labs	c37e58ea58
12:40688695 LRRK2 T>C	12	40688695	40688695	T	C	LRRK2	c.2857T>C	NM_198578.4	NP_940980.4:p.(Leu953=)	NC_000012.11:g.40688695T>C	(Likely) benign	2 labs	c388774245
17:48272643 COL1A1 G>C	17	48272643	48272643	G	C	COL1A1	c.1249C>G	NM_000088.4	NP_000079.2:p.(Pro417Ala)	NC_000017.10:g.48272643G>C	(Likely) benign	3 labs	c38b18879a
2:202633582 ALS2 A>G	2	202633582	202633582	A	G	ALS2	c.20+7T>C	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202633582A>G	(Likely) benign	3 labs	c38db3c7ef
2:179574384 TTN C>T	2	179574384	179574384	C	T	TTN	c.28662G>A	NM_001267550.2	NP_001254479.2:p.(Arg9554=)	NC_000002.11:g.179574384C>T	(Likely) benign	3 labs	c39067e0a0
7:94027718 COL1A2 C>T	7	94027718	94027718	C	T	COL1A2	c.96+10C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027718C>T	(Likely) benign	2 labs	c3922e1fe0
13:32968861 BRCA2 T>C	13	32968861	32968861	T	C	BRCA2	c.9292T>C	NM_000059.4	NP_000050.3:p.(Tyr3098His)	NC_000013.10:g.32968861T>C	(Likely) benign	6 labs	c39bcdf39f
2:179398781 TTN G>A	2	179398781	179398781	G	A	TTN	c.102561C>T	NM_001267550.2	NP_001254479.2:p.(Tyr34187=)	NC_000002.11:g.179398781G>A	(Likely) benign	2 labs	c3a39d2f09
13:32906980 BRCA2 A>G	13	32906980	32906980	A	G	BRCA2	c.1365A>G	NM_000059.4	NP_000050.3:p.(Ser455=)	NC_000013.10:g.32906980A>G	(Likely) benign	7 labs	c3b7a8a04e
11:117222691 CEP164 C>A	11	117222691	117222691	C	A	CEP164	c.380C>A	NM_014956.5	NP_055771.4:p.(Pro127His)	NC_000011.9:g.117222691C>A	(Likely) benign	3 labs	c3afd19df5
4:114288787 ANK2 T>G	4	114288787	114288787	T	G	ANK2	c.11098T>G	NM_001148.6	NP_001139.3:p.(Ser3700Ala)	NC_000004.11:g.114288787T>G	VUS	3 labs	c3b6c82130
11:67250665 AIP G>A	11	67250665	67250665	G	A	AIP	c.36G>A	NM_003977.4	NP_003968.3:p.(Gly12=)	NC_000011.9:g.67250665G>A	(Likely) benign	2 labs	c3ba192cc7
6:56476411 DST G>C	6	56476411	56476411	G	C	DST	c.4960-17C>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56476411G>C	(Likely) benign	2 labs	c3c1ac6ee6
2:179439952 TTN C>T	2	179439952	179439952	C	T	TTN	c.70907G>A	NM_001267550.2	NP_001254479.2:p.(Arg23636His)	NC_000002.11:g.179439952C>T	(Likely) benign	3 labs	c3c2beaf32
12:88523642 CEP290 TTC>T	12	88523642	88523645	TTC	T	CEP290	c.679_680del	NM_025114.4	NP_079390.3:p.(Glu227SerfsTer2)	NC_000012.11:g.88523644_88523645del	(Likely) pathogenic	2 labs	c3c418089b
X:132888207 GPC3 TAA>T	X	132888207	132888223	TAA	T	GPC3	c.338-6_338-5del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132888222_132888223del	(Likely) benign	2 labs	c3c4804698
11:68171013 LRP5 T>C	11	68171013	68171013	T	C	LRP5	c.1647T>C	NM_002335.4	NP_002326.2:p.(Phe549=)	NC_000011.9:g.68171013T>C	(Likely) benign	4 labs	c3d06765ba
11:70644655 SHANK2 C>T	11	70644655	70644655	C	T	SHANK2	c.1670G>A	NM_012309.5	NP_036441.2:p.(Ser557Asn)	NC_000011.9:g.70644655C>T	(Likely) benign	2 labs	c3d204432f
X:39932311 BCOR C>A	X	39932311	39932311	C	A	BCOR	c.2288G>T	NM_001123385.2	NP_001116857.1:p.(Arg763Leu)	NC_000023.10:g.39932311C>A	(Likely) benign	3 labs	c3d7ca4730
7:128482288 FLNC G>A	7	128482288	128482288	G	A	FLNC	c.2125G>A	NM_001458.5	NP_001449.3:p.(Ala709Thr)	NC_000007.13:g.128482288G>A	(Likely) benign	4 labs	c3dd40cba6
16:74750229 FA2H A>C	16	74750229	74750229	A	C	FA2H	c.1039+16T>G	NM_024306.5	NP_077282.3:p.?	NC_000016.9:g.74750229A>C	(Likely) benign	2 labs	c3dd9d98c2
12:8814695 MFAP5 C>T	12	8814695	8814695	C	T	MFAP5	c.6G>A	NM_003480.4	NP_003471.1:p.(Ser2=)	NC_000012.11:g.8814695C>T	(Likely) benign	3 labs	c3e4c70f1f
13:32971114 BRCA2 C>A	13	32971114	32971114	C	A	BRCA2	c.9581C>A	NM_000059.4	NP_000050.3:p.(Pro3194Gln)	NC_000013.10:g.32971114C>A	(Likely) benign	2 labs	c3feabe01b
1:152277615 FLG G>A	1	152277615	152277615	G	A	FLG	c.9747C>T	NM_002016.2	NP_002007.1:p.(His3249=)	NC_000001.10:g.152277615G>A	(Likely) benign	2 labs	c4044c1647
1:982783 AGRN T>C	1	982783	982783	T	C	AGRN	c.3465T>C	NM_001305275.2	NP_001292204.1:p.(Ala1155=)	NC_000001.10:g.982783T>C	(Likely) benign	2 labs	c4088ce35f
2:39216404 SOS1 T>C	2	39216404	39216404	T	C	SOS1	c.3391+7A>G	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39216404T>C	(Likely) benign	4 labs	c40a27f4eb
8:38287238 FGFR1 G>A	8	38287238	38287238	G	A	FGFR1	c.296C>T	NM_001174064.2	NP_001167535.1:p.(Ser99Leu)	NC_000008.10:g.38287238G>A	(Likely) benign	2 labs	c4162c33a2
14:23851653 MYH6 C>T	14	23851653	23851653	C	T	MYH6	c.5780G>A	NM_002471.4	NP_002462.2:p.(Arg1927His)	NC_000014.8:g.23851653C>T	VUS	2 labs	c4172d4b77
X:153688602 PLXNA3 G>A	X	153688602	153688602	G	A	PLXNA3	c.79G>A	NM_017514.5	NP_059984.3:p.(Val27Met)	NC_000023.10:g.153688602G>A	(Likely) benign	2 labs	c4251c77fb
14:102514227 DYNC1H1 T>C	14	102514227	102514227	T	C	DYNC1H1	c.13080T>C	NM_001376.5	NP_001367.2:p.(Thr4360=)	NC_000014.8:g.102514227T>C	(Likely) benign	4 labs	c42af0998b
6:129635800 LAMA2 G>A	6	129635800	129635800	G	A	LAMA2	c.3412G>A	NM_000426.4	NP_000417.3:p.(Val1138Met)	NC_000006.11:g.129635800G>A	(Likely) benign	4 labs	c4344371f5
15:63349193 TPM1 G>A	15	63349193	63349193	G	A	TPM1	c.250G>A	NM_001018004.2	NP_001018004.1:p.(Asp84Asn)	NC_000015.9:g.63349193G>A	(Likely) pathogenic	3 labs	c43684a5a7
2:21229107 APOB C>A	2	21229107	21229107	C	A	APOB	c.10633G>T	NM_000384.3	NP_000375.3:p.(Glu3545Ter)	NC_000002.11:g.21229107C>A	(Likely) pathogenic	2 labs	c448cfb8f8
2:179560685 TTN C>G	2	179560685	179560685	C	G	TTN	c.31114G>C	NM_001267550.2	NP_001254479.2:p.(Glu10372Gln)	NC_000002.11:g.179560685C>G	VUS	2 labs	c46a3b0a1e
9:138671257 KCNT1 C>T	9	138671257	138671257	C	T	KCNT1	c.2782C>T	NM_020822.3	NP_065873.2:p.(Arg928Cys)	NC_000009.11:g.138671257C>T	(Likely) pathogenic	3 labs	c47ae63b4b
9:135158690 SETX C>T	9	135158690	135158690	C	T	SETX	c.6507G>A	NM_015046.7	NP_055861.3:p.(Gly2169=)	NC_000009.11:g.135158690C>T	(Likely) benign	4 labs	c480c2010e
3:123419733 MYLK A>G	3	123419733	123419733	A	G	MYLK	c.2582T>C	NM_053025.4	NP_444253.3:p.(Leu861Pro)	NC_000003.11:g.123419733A>G	(Likely) benign	2 labs	c48753cd68
5:149456909 CSF1R G>A	5	149456909	149456909	G	A	CSF1R	c.819C>T	NM_005211.4	NP_005202.2:p.(Ala273=)	NC_000005.9:g.149456909G>A	(Likely) benign	2 labs	c488cc222d
12:110238481 TRPV4 G>A	12	110238481	110238481	G	A	TRPV4	c.795C>T	NM_021625.5	NP_067638.3:p.(His265=)	NC_000012.11:g.110238481G>A	(Likely) benign	2 labs	c489a7643a
1:5951029 NPHP4 G>A	1	5951029	5951029	G	A	NPHP4	c.2203C>T	NM_015102.5	NP_055917.1:p.(Arg735Trp)	NC_000001.10:g.5951029G>A	VUS	2 labs	c48fd3c86e
6:32009589 TNXB C>T	6	32009589	32009589	C	T	TNXB	c.12586G>A	NM_019105.8	NP_061978.6:p.(Ala4196Thr)	NC_000006.11:g.32009589C>T	VUS	2 labs	c49216b2f8
X:153490458 OPN1MW2 T>C	X	153490458	153490458	T	C	OPN1MW2	c.194T>C	NM_001048181.2	NP_001041646.1:p.(Ile65Thr)	NC_000023.10:g.153490458T>C	(Likely) benign	2 labs	c4922febd8
11:108121464 ATM T>C	11	108121464	108121464	T	C	ATM	c.1272T>C	NM_000051.4	NP_000042.3:p.(Pro424=)	NC_000011.9:g.108121464T>C	(Likely) benign	6 labs	c4a446f8ae
17:68171833 KCNJ2 G>A	17	68171833	68171833	G	A	KCNJ2	c.653G>A	NM_000891.3	NP_000882.1:p.(Arg218Gln)	NC_000017.10:g.68171833G>A	(Likely) pathogenic	2 labs	c4c3117dbb
17:79620285 PDE6G G>A	17	79620285	79620285	G	A	PDE6G	c.51C>T	NM_002602.4	NP_002593.1:p.(Ala17=)	NC_000017.10:g.79620285G>A	(Likely) benign	2 labs	c4cab292ff
1:235594028 TBCE A>C	1	235594028	235594028	A	C	TBCE	c.569A>C	NM_001287801.2	NP_001274730.1:p.(Lys190Thr)	NC_000001.10:g.235594028A>C	VUS	2 labs	c4d24f9bbb
2:73651967 ALMS1 C>T	2	73651967	73651967	C	T	ALMS1	c.1177C>T	NM_015120.4	NP_055935.4:p.(Arg393Cys)	NC_000002.11:g.73651967C>T	(Likely) benign	2 labs	c4d543c0a5
3:38647592 SCN5A G>A	3	38647592	38647592	G	A	SCN5A	c.1188C>T	NM_198056.3	NP_932173.1:p.(Val396=)	NC_000003.11:g.38647592G>A	(Likely) benign	3 labs	c4e07e7aa1
6:33410987 SYNGAP1 G>A	6	33410987	33410987	G	A	SYNGAP1	c.2658G>A	NM_006772.3	NP_006763.2:p.(Ala886=)	NC_000006.11:g.33410987G>A	(Likely) benign	3 labs	c4e59bdc04
21:33032173 SOD1 G>A	21	33032173	33032173	G	A	SOD1	c.72+19G>A	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33032173G>A	(Likely) benign	2 labs	c4e85c2ad5
7:128040404 IMPDH1 T>C	7	128040404	128040404	T	C	IMPDH1	c.769A>G	NM_000883.4	NP_000874.2:p.(Thr257Ala)	NC_000007.13:g.128040404T>C	(Likely) benign	2 labs	c4f2ae8608
5:180030376 FLT4 C>G	5	180030376	180030376	C	G	FLT4	c.3908G>C	NM_182925.5	NP_891555.2:p.(Gly1303Ala)	NC_000005.9:g.180030376C>G	(Likely) benign	2 labs	c4fd53535c
6:33411093 SYNGAP1 C>T	6	33411093	33411093	C	T	SYNGAP1	c.2764C>T	NM_006772.3	NP_006763.2:p.(Arg922Ter)	NC_000006.11:g.33411093C>T	(Likely) pathogenic	2 labs	c5024b71c2
1:3342324 PRDM16 G>A	1	3342324	3342324	G	A	PRDM16	c.3109+10G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342324G>A	(Likely) benign	3 labs	c507763b78
14:95560348 DICER1 C>T	14	95560348	95560348	C	T	DICER1	c.5241G>A	NM_177438.3	NP_803187.1:p.(Ser1747=)	NC_000014.8:g.95560348C>T	(Likely) benign	3 labs	c50869b453
X:148577931 IDS G>A	X	148577931	148577931	G	A	IDS	c.825C>T	NM_000202.8	NP_000193.1:p.(Asp275=)	NC_000023.10:g.148577931G>A	(Likely) benign	2 labs	c50b411064
16:78466409 WWOX G>T	16	78466409	78466409	G	T	WWOX	c.816G>T	NM_016373.4	NP_057457.1:p.(Leu272Phe)	NC_000016.9:g.78466409G>T	(Likely) benign	3 labs	c50fd6d39e
4:114214588 ANK2 C>T	4	114214588	114214588	C	T	ANK2	c.2377-8C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114214588C>T	(Likely) benign	2 labs	c51ca25634
1:74834948 TNNI3K G>A	1	74834948	74834948	G	A	TNNI3K	c.1472G>A	NM_015978.3	NP_057062.1:p.(Arg491His)	NC_000001.10:g.74834948G>A	VUS	2 labs	c52040f39f
9:134385435 POMT1 C>T	9	134385435	134385435	C	T	POMT1	c.751C>T	NM_007171.4	NP_009102.4:p.(Gln251Ter)	NC_000009.11:g.134385435C>T	(Likely) benign	3 labs	c52349ed85
4:88536910 DSPP CAGCAGCGAT>C	4	88536910	88536924	CAGCAGCGAT	C	DSPP	c.3102_3110del	NM_014208.3	NP_055023.2:p.(Asp1053_Ser1055del)	NC_000004.11:g.88536916_88536924del	(Likely) benign	3 labs	c52738bec7
2:241689833 KIF1A G>A	2	241689833	241689833	G	A	KIF1A	c.2977+13C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241689833G>A	(Likely) benign	3 labs	c53cee78f7
2:113992967 PAX8 G>A	2	113992967	113992967	G	A	PAX8	c.1087+4C>T	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113992967G>A	(Likely) benign	2 labs	c54ddbbe45
5:89925354 ADGRV1 C>A	5	89925354	89925354	C	A	ADGRV1	c.1837C>A	NM_032119.4	NP_115495.3:p.(Gln613Lys)	NC_000005.9:g.89925354C>A	(Likely) benign	3 labs	c5595c5bcf
20:10653469 JAG1 C>T	20	10653469	10653469	C	T	JAG1	c.267G>A	NM_000214.3	NP_000205.1:p.(Gly89=)	NC_000020.10:g.10653469C>T	(Likely) benign	3 labs	c55c8cc319
7:91708521 AKAP9 A>G	7	91708521	91708521	A	G	AKAP9	c.7074A>G	NM_005751.5	NP_005742.4:p.(Lys2358=)	NC_000007.13:g.91708521A>G	(Likely) benign	2 labs	c55cff76c9
20:62078122 KCNQ2 G>A	20	62078122	62078122	G	A	KCNQ2	c.365C>T	NM_172107.4	NP_742105.1:p.(Ser122Leu)	NC_000020.10:g.62078122G>A	(Likely) pathogenic	2 labs	c55d132d80
15:31453136 TRPM1 G>A	15	31453136	31453136	G	A	TRPM1	c.27C>T	NM_001252020.2	NP_001238949.1:p.(Leu9=)	NC_000015.9:g.31453136G>A	(Likely) benign	2 labs	c56503346f
11:31815068 PAX6 C>T	11	31815068	31815068	C	T	PAX6	c.542G>A	NM_001310160.2	NP_001297089.1:p.(Arg181Gln)	NC_000011.9:g.31815068C>T	VUS	2 labs	c567b500e5
7:5567816 ACTB C>T	7	5567816	5567816	C	T	ACTB	c.803G>A	NM_001101.5	NP_001092.1:p.(Gly268Asp)	NC_000007.13:g.5567816C>T	(Likely) pathogenic	2 labs	c56c76937a
20:42744601 JPH2 G>A	20	42744601	42744601	G	A	JPH2	c.1714C>T	NM_020433.5	NP_065166.2:p.(Arg572Cys)	NC_000020.10:g.42744601G>A	VUS	3 labs	c56e13914b
X:110574222 DCX C>A	X	110574222	110574222	C	A	DCX	c.1099G>T	NM_000555.3	NP_000546.2:p.(Ala367Ser)	NC_000023.10:g.110574222C>A	(Likely) benign	2 labs	c576a494d1
17:40695459 NAGLU G>A	17	40695459	40695459	G	A	NAGLU	c.1435G>A	NM_000263.4	NP_000254.2:p.(Ala479Thr)	NC_000017.10:g.40695459G>A	VUS	3 labs	c586b68fc0
2:179659911 TTN C>T	2	179659911	179659911	C	T	TTN	c.983G>A	NM_001267550.2	NP_001254479.2:p.(Arg328His)	NC_000002.11:g.179659911C>T	VUS	2 labs	c59ca5b608
2:241702576 KIF1A G>A	2	241702576	241702576	G	A	KIF1A	c.1949+7C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241702576G>A	(Likely) benign	3 labs	c59f2e43ba
1:237993942 RYR2 C>T	1	237993942	237993942	C	T	RYR2	c.14756+12C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237993942C>T	(Likely) benign	3 labs	c5ad59cd0d
2:179594655 TTN T>C	2	179594655	179594655	T	C	TTN	c.18325A>G	NM_001267550.2	NP_001254479.2:p.(Lys6109Glu)	NC_000002.11:g.179594655T>C	VUS	2 labs	c5b2cdb99a
20:56140090 PCK1 C>A	20	56140090	56140090	C	A	PCK1	c.1319-6C>A	NM_002591.4	NP_002582.3:p.?	NC_000020.10:g.56140090C>A	(Likely) benign	2 labs	c5b991e6aa
14:97299853 VRK1 A>G	14	97299853	97299853	A	G	VRK1	c.45A>G	NM_003384.3	NP_003375.1:p.(Ala15=)	NC_000014.8:g.97299853A>G	(Likely) benign	2 labs	c5bbe223e3
13:52539170 ATP7B C>G	13	52539170	52539170	C	G	ATP7B	c.1708-1G>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52539170C>G	(Likely) pathogenic	2 labs	c5bf1acde8
9:139410187 NOTCH1 G>A	9	139410187	139410187	G	A	NOTCH1	c.1670-19C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410187G>A	(Likely) benign	2 labs	c5c0d37bb9
17:39914679 JUP C>T	17	39914679	39914679	C	T	JUP	c.1745G>A	NM_002230.4	NP_002221.1:p.(Arg582Gln)	NC_000017.10:g.39914679C>T	VUS	2 labs	c5c9a4a481
2:238243285 COL6A3 G>A	2	238243285	238243285	G	A	COL6A3	c.9213C>T	NM_004369.4	NP_004360.2:p.(His3071=)	NC_000002.11:g.238243285G>A	(Likely) benign	2 labs	c5cda71b01
14:31346846 COCH C>T	14	31346846	31346846	C	T	COCH	c.151C>T	NM_001135058.2	NP_001128530.1:p.(Pro51Ser)	NC_000014.8:g.31346846C>T	(Likely) pathogenic	3 labs	c5d5bcab54
3:129155463 MBD4 A>G	3	129155463	129155463	A	G	MBD4	c.1024T>C	NM_003925.3	NP_003916.1:p.(Ser342Pro)	NC_000003.11:g.129155463A>G	(Likely) benign	2 labs	c5e639ebd7
3:123376067 MYLK G>A	3	123376067	123376067	G	A	MYLK	c.4194C>T	NM_053025.4	NP_444253.3:p.(His1398=)	NC_000003.11:g.123376067G>A	(Likely) benign	4 labs	c5f9eed71d
7:128484968 FLNC G>A	7	128484968	128484968	G	A	FLNC	c.3449G>A	NM_001458.5	NP_001449.3:p.(Arg1150Gln)	NC_000007.13:g.128484968G>A	(Likely) benign	3 labs	c5fba126e9
1:3334493 PRDM16 C>T	1	3334493	3334493	C	T	PRDM16	c.2793C>T	NM_022114.4	NP_071397.3:p.(Asn931=)	NC_000001.10:g.3334493C>T	(Likely) benign	4 labs	c60a30d956
2:170349422 BBS5 T>G	2	170349422	170349422	T	G	BBS5	c.425T>G	NM_152384.3	NP_689597.1:p.(Leu142Ter)	NC_000002.11:g.170349422T>G	(Likely) pathogenic	2 labs	c61745fdec
16:15808861 MYH11 G>A	16	15808861	15808861	G	A	MYH11	c.5712C>T	NM_001040113.2	NP_001035202.1:p.(Asn1904=)	NC_000016.9:g.15808861G>A	(Likely) benign	3 labs	c62b540a24
8:144998129 PLEC C>T	8	144998129	144998129	C	T	PLEC	c.6379G>A	NM_201380.4	NP_958782.1:p.(Val2127Met)	NC_000008.10:g.144998129C>T	VUS	2 labs	c62d2793f9
1:237947123 RYR2 C>T	1	237947123	237947123	C	T	RYR2	c.12111C>T	NM_001035.3	NP_001026.2:p.(Pro4037=)	NC_000001.10:g.237947123C>T	(Likely) benign	2 labs	c62d700186
X:53658558 HUWE1 A>G	X	53658558	53658558	A	G	HUWE1	c.654T>C	NM_031407.7	NP_113584.3:p.(Ser218=)	NC_000023.10:g.53658558A>G	(Likely) benign	2 labs	c62de1e59d
1:237872273 RYR2 C>T	1	237872273	237872273	C	T	RYR2	c.10017C>T	NM_001035.3	NP_001026.2:p.(His3339=)	NC_000001.10:g.237872273C>T	(Likely) benign	4 labs	c62fe13b59
19:16590027 CALR3 TCG>T	19	16590027	16590031	TCG	T	CALR3	c.1068_1069del	NM_145046.5	NP_659483.2:p.(Glu357GlyfsTer12)	NC_000019.9:g.16590030_16590031del	VUS	2 labs	c63e018c38
12:88483184 CEP290 A>G	12	88483184	88483184	A	G	CEP290	c.3654T>C	NM_025114.4	NP_079390.3:p.(Leu1218=)	NC_000012.11:g.88483184A>G	(Likely) benign	3 labs	c6407d5a9b
18:19378195 MIB1 T>C	18	19378195	19378195	T	C	MIB1	c.1237+6T>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19378195T>C	(Likely) benign	2 labs	c64bc18f3c
22:51169731 SHANK3 C>T	22	51169731	51169731	C	T	SHANK3	c.5412C>T	NM_001372044.2	NP_001358973.1:p.(Asp1804=)	NC_000022.10:g.51169731C>T	(Likely) benign	2 labs	c64edceea8
10:90768680 FAS G>A	10	90768680	90768680	G	A	FAS	c.369G>A	NM_000043.6	NP_000034.1:p.(Gln123=)	NC_000010.10:g.90768680G>A	(Likely) benign	3 labs	c654df6356
12:40757186 LRRK2 AT>A	12	40757186	40757195	AT	A	LRRK2	c.7029-9del	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40757195del	(Likely) benign	3 labs	c65cbe5533
4:650057 PDE6B C>T	4	650057	650057	C	T	PDE6B	c.1083C>T	NM_000283.4	NP_000274.3:p.(Ser361=)	NC_000004.11:g.650057C>T	(Likely) benign	2 labs	c663fa7887
3:49694412 BSN G>C	3	49694412	49694412	G	C	BSN	c.7423G>C	NM_003458.4	NP_003449.2:p.(Ala2475Pro)	NC_000003.11:g.49694412G>C	(Likely) benign	2 labs	c6646fee1d
17:41234565 BRCA1 T>C	17	41234565	41234565	T	C	BRCA1	c.4213A>G	NM_007294.4	NP_009225.1:p.(Ile1405Val)	NC_000017.10:g.41234565T>C	(Likely) benign	2 labs	c666711ced
14:23874929 MYH6 G>A	14	23874929	23874929	G	A	MYH6	c.252C>T	NM_002471.4	NP_002462.2:p.(Phe84=)	NC_000014.8:g.23874929G>A	(Likely) benign	2 labs	c67300b5b9
5:37052573 NIPBL G>A	5	37052573	37052573	G	A	NIPBL	c.7168G>A	NM_015384.5	NP_056199.2:p.(Ala2390Thr)	NC_000005.9:g.37052573G>A	(Likely) pathogenic	2 labs	c679b9bf97
1:45809180 TOE1 A>T	1	45809180	45809180	A	T	TOE1	c.1339A>T	NM_025077.4	NP_079353.3:p.(Thr447Ser)	NC_000001.10:g.45809180A>T	VUS	2 labs	c67fc1497f
15:73635846 HCN4 G>A	15	73635846	73635846	G	A	HCN4	c.1089C>T	NM_005477.3	NP_005468.1:p.(Ile363=)	NC_000015.9:g.73635846G>A	(Likely) benign	2 labs	c6862d9dd6
12:32949167 PKP2 T>C	12	32949167	32949167	T	C	PKP2	c.2365A>G	NM_004572.4	NP_004563.2:p.(Ile789Val)	NC_000012.11:g.32949167T>C	(Likely) benign	3 labs	c6862e4479
1:116280963 CASQ2 T>A	1	116280963	116280963	T	A	CASQ2	c.421-7A>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116280963T>A	(Likely) benign	2 labs	c6891aec53
22:51065322 ARSA A>G	22	51065322	51065322	A	G	ARSA	c.624T>C	NM_000487.6	NP_000478.3:p.(His208=)	NC_000022.10:g.51065322A>G	(Likely) benign	3 labs	c68a7c2d51
20:10389422 MKKS T>C	20	10389422	10389422	T	C	MKKS	c.1015A>G	NM_018848.3	NP_061336.1:p.(Ile339Val)	NC_000020.10:g.10389422T>C	(Likely) benign	5 labs	c69535e33d
2:179482698 TTN C>T	2	179482698	179482698	C	T	TTN	c.39676G>A	NM_133378.4	NP_596869.4:p.(Val13226Ile)	NC_000002.11:g.179482698C>T	(Likely) benign	2 labs	c695a0cf2d
6:7585750 DSP G>A	6	7585750	7585750	G	A	DSP	c.8255G>A	NM_004415.4	NP_004406.2:p.(Arg2752Gln)	NC_000006.11:g.7585750G>A	VUS	2 labs	c698e8234d
18:28648084 DSC2 G>A	18	28648084	28648084	G	A	DSC2	c.2603C>T	NM_024422.6	NP_077740.1:p.(Ser868Phe)	NC_000018.9:g.28648084G>A	VUS	2 labs	c6a0610f61
18:34298061 FHOD3 C>G	18	34298061	34298061	C	G	FHOD3	c.2275C>G	NM_025135.5	NP_079411.2:p.(Arg759Gly)	NC_000018.9:g.34298061C>G	VUS	2 labs	c6ac1323ad
2:21231742 APOB T>C	2	21231742	21231742	T	C	APOB	c.7998A>G	NM_000384.3	NP_000375.3:p.(Val2666=)	NC_000002.11:g.21231742T>C	(Likely) benign	2 labs	c6a739a285
3:53844244 CACNA1D A>G	3	53844244	53844244	A	G	CACNA1D	c.6171A>G	NM_000720.4	NP_000711.1:p.(Thr2057=)	NC_000003.11:g.53844244A>G	(Likely) benign	2 labs	c6abba5235
19:14034243 CC2D1A C>T	19	14034243	14034243	C	T	CC2D1A	c.1739C>T	NM_017721.5	NP_060191.3:p.(Thr580Ile)	NC_000019.9:g.14034243C>T	(Likely) benign	3 labs	c6b55be84a
10:92679040 ANKRD1 C>T	10	92679040	92679040	C	T	ANKRD1	c.208-15G>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92679040C>T	(Likely) benign	2 labs	c6ae1fce8a
7:81641570 CACNA2D1 G>GA	7	81641570	81641583	G	GA	CACNA2D1	c.1273-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641583dup	(Likely) benign	2 labs	c6c65d95ab
1:156846300 NTRK1 G>A	1	156846300	156846300	G	A	NTRK1	c.1741G>A	NM_002529.4	NP_002520.2:p.(Glu581Lys)	NC_000001.10:g.156846300G>A	VUS	3 labs	c6c7325e71
2:179475081 TTN C>T	2	179475081	179475081	C	T	TTN	c.51172G>A	NM_001267550.2	NP_001254479.2:p.(Asp17058Asn)	NC_000002.11:g.179475081C>T	VUS	2 labs	c6d44f45ae
11:117215013 CEP164 G>A	11	117215013	117215013	G	A	CEP164	c.194+20G>A	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117215013G>A	(Likely) benign	2 labs	c6dd4b0066
10:75758046 VCL C>T	10	75758046	75758046	C	T	VCL	c.81C>T	NM_014000.3	NP_054706.1:p.(His27=)	NC_000010.10:g.75758046C>T	(Likely) benign	4 labs	c6e0db4181
2:179598228 TTN A>G	2	179598228	179598228	A	G	TTN	c.15792T>C	NM_001267550.2	NP_001254479.2:p.(Ile5264=)	NC_000002.11:g.179598228A>G	(Likely) benign	2 labs	c6ef5d28db
11:68201315 LRP5 C>T	11	68201315	68201315	C	T	LRP5	c.4000+9C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68201315C>T	(Likely) benign	3 labs	c6f1494bf5
11:121454149 SORL1 C>G	11	121454149	121454149	C	G	SORL1	c.3581-18C>G	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121454149C>G	(Likely) benign	2 labs	c6f2fb5c72
9:135139746 SETX G>A	9	135139746	135139746	G	A	SETX	c.7914C>T	NM_015046.7	NP_055861.3:p.(Phe2638=)	NC_000009.11:g.135139746G>A	(Likely) benign	3 labs	c6f6586c47
X:152818636 ATP2B3 G>A	X	152818636	152818636	G	A	ATP2B3	c.1967G>A	NM_021949.4	NP_068768.2:p.(Gly656Asp)	NC_000023.10:g.152818636G>A	(Likely) benign	2 labs	c6f8201d29
22:50893151 SBF1 G>A	22	50893151	50893151	G	A	SBF1	c.4833C>T	NM_002972.4	NP_002963.2:p.(Asn1611=)	NC_000022.10:g.50893151G>A	(Likely) benign	2 labs	c704b6d4c9
X:40588602 MED14 G>A	X	40588602	40588602	G	A	MED14	c.216-5C>T	NM_004229.4	NP_004220.2:p.?	NC_000023.10:g.40588602G>A	(Likely) benign	2 labs	c7082b8a4c
13:32912935 BRCA2 G>GGAAACA	13	32912935	32912943	G	GGAAACA	BRCA2	c.4446_4451dup	NM_000059.4	NP_000050.3:p.(Glu1482_Thr1483dup)	NC_000013.10:g.32912938_32912943dup	(Likely) benign	2 labs	c702623bb2
12:999638 WNK1 C>T	12	999638	999638	C	T	WNK1	c.6248C>T	NM_001184985.2	NP_001171914.1:p.(Pro2083Leu)	NC_000012.11:g.999638C>T	(Likely) benign	2 labs	c715a54cbe
7:150648846 KCNH2 G>A	7	150648846	150648846	G	A	KCNH2	c.1635C>T	NM_000238.4	NP_000229.1:p.(Tyr545=)	NC_000007.13:g.150648846G>A	(Likely) benign	2 labs	c71f47385a
2:179406044 TTN C>G	2	179406044	179406044	C	G	TTN	c.97760G>C	NM_001267550.2	NP_001254479.2:p.(Arg32587Pro)	NC_000002.11:g.179406044C>G	(Likely) benign	3 labs	c739938329
3:46904812 MYL3 G>A	3	46904812	46904812	G	A	MYL3	c.69C>T	NM_000258.3	NP_000249.1:p.(Pro23=)	NC_000003.11:g.46904812G>A	(Likely) benign	3 labs	c740650e5a
6:112455816 LAMA4 G>A	6	112455816	112455816	G	A	LAMA4	c.3394-5C>T	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112455816G>A	(Likely) benign	2 labs	c74475eb61
19:40903512 PRX G>A	19	40903512	40903512	G	A	PRX	c.747C>T	NM_181882.3	NP_870998.2:p.(Pro249=)	NC_000019.9:g.40903512G>A	(Likely) benign	2 labs	c745f41b8f
9:131344110 SPTAN1 C>T	9	131344110	131344110	C	T	SPTAN1	c.1511C>T	NM_001363759.2	NP_001350688.1:p.(Ala504Val)	NC_000009.11:g.131344110C>T	(Likely) benign	2 labs	c76b576048
3:53842691 CACNA1D CCTT>C	3	53842691	53842695	CCTT	C	CACNA1D	c.5767_5769del	NM_001128840.3	NP_001122312.1:p.(Phe1923del)	NC_000003.11:g.53842693_53842695del	(Likely) benign	3 labs	c7789e88a0
4:39216246 WDR19 T>C	4	39216246	39216246	T	C	WDR19	c.916T>C	NM_025132.4	NP_079408.3:p.(Leu306=)	NC_000004.11:g.39216246T>C	(Likely) benign	2 labs	c784073b1b
22:29121071 CHEK2 ATCT>A	22	29121071	29121077	ATCT	A	CHEK2	c.483_485del	NM_007194.4	NP_009125.1:p.(Glu161del)	NC_000022.10:g.29121075_29121077del	(Likely) pathogenic	3 labs	c78b8bb02b
19:38993547 RYR1 C>T	19	38993547	38993547	C	T	RYR1	c.7863C>T	NM_000540.3	NP_000531.2:p.(His2621=)	NC_000019.9:g.38993547C>T	(Likely) benign	2 labs	c79703b773
2:179457021 TTN A>G	2	179457021	179457021	A	G	TTN	c.59627-17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179457021A>G	(Likely) benign	2 labs	c7986fb5c3
13:20763264 GJB2 C>T	13	20763264	20763264	C	T	GJB2	c.457G>A	NM_004004.6	NP_003995.2:p.(Val153Ile)	NC_000013.10:g.20763264C>T	(Likely) benign	3 labs	c7a4a15f52
1:1168173 B3GALT6 C>T	1	1168173	1168173	C	T	B3GALT6	c.515C>T	NM_080605.4	NP_542172.2:p.(Ala172Val)	NC_000001.10:g.1168173C>T	(Likely) benign	2 labs	c7aae13efd
11:2466545 KCNQ1 C>A	11	2466545	2466545	C	A	KCNQ1	c.217C>A	NM_000218.3	NP_000209.2:p.(Pro73Thr)	NC_000011.9:g.2466545C>A	VUS	2 labs	c7ac897c88
2:189860434 COL3A1 G>A	2	189860434	189860434	G	A	COL3A1	c.1526G>A	NM_000090.4	NP_000081.2:p.(Arg509His)	NC_000002.11:g.189860434G>A	VUS	2 labs	c7b21768e0
2:44059122 ABCG5 C>G	2	44059122	44059122	C	G	ABCG5	c.366G>C	NM_022436.3	NP_071881.1:p.(Arg122=)	NC_000002.11:g.44059122C>G	(Likely) benign	2 labs	c7b387d4fe
X:119565200 LAMP2 T>A	X	119565200	119565200	T	A	LAMP2	c.1211A>T	NM_002294.3	NP_002285.1:p.(His404Leu)	NC_000023.10:g.119565200T>A	VUS	2 labs	c7bb377649
19:35524824 SCN1B T>C	19	35524824	35524824	T	C	SCN1B	c.629T>C	NM_199037.5	NP_950238.1:p.(Leu210Pro)	NC_000019.9:g.35524824T>C	(Likely) benign	3 labs	c7c552fc8d
4:6302816 WFS1 C>G	4	6302816	6302816	C	G	WFS1	c.1294C>G	NM_006005.3	NP_005996.2:p.(Leu432Val)	NC_000004.11:g.6302816C>G	(Likely) benign	3 labs	c7c7829ccb
9:130586621 ENG C>G	9	130586621	130586621	C	G	ENG	c.1096G>C	NM_001114753.3	NP_001108225.1:p.(Asp366His)	NC_000009.11:g.130586621C>G	(Likely) benign	3 labs	c7d36a69d6
10:55779943 PCDH15 A>G	10	55779943	55779943	A	G	PCDH15	c.2766+9T>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55779943A>G	(Likely) benign	3 labs	c7e0a42799
5:14487651 TRIO G>A	5	14487651	14487651	G	A	TRIO	c.6914G>A	NM_007118.4	NP_009049.2:p.(Gly2305Asp)	NC_000005.9:g.14487651G>A	(Likely) benign	3 labs	c7e4819eb5
2:11853913 LPIN1 G>A	2	11853913	11853913	G	A	LPIN1	c.113G>A	NM_001261428.3	NP_001248357.1:p.(Arg38Gln)	NC_000002.11:g.11853913G>A	(Likely) benign	3 labs	c7eb5343e5
2:233390199 PRSS56 C>G	2	233390199	233390199	C	G	PRSS56	c.1798C>G	NM_001369848.1	NP_001356777.1:p.(Pro600Ala)	NC_000002.11:g.233390199C>G	(Likely) benign	2 labs	c7f6f0f5a7
14:102516480 DYNC1H1 C>T	14	102516480	102516480	C	T	DYNC1H1	c.13757C>T	NM_001376.5	NP_001367.2:p.(Pro4586Leu)	NC_000014.8:g.102516480C>T	VUS	2 labs	c7fe6ef4bb
2:179604254 TTN C>T	2	179604254	179604254	C	T	TTN	c.13706G>A	NM_001267550.2	NP_001254479.2:p.(Ser4569Asn)	NC_000002.11:g.179604254C>T	(Likely) benign	3 labs	c80fc07e82
14:21798479 RPGRIP1 C>T	14	21798479	21798479	C	T	RPGRIP1	c.3171C>T	NM_020366.4	NP_065099.3:p.(His1057=)	NC_000014.8:g.21798479C>T	(Likely) benign	3 labs	c8123da994
2:179595528 TTN T>C	2	179595528	179595528	T	C	TTN	c.17741-9A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595528T>C	(Likely) benign	4 labs	c81b9d1525
11:6661813 DCHS1 G>A	11	6661813	6661813	G	A	DCHS1	c.1032C>T	NM_003737.4	NP_003728.1:p.(Gly344=)	NC_000011.9:g.6661813G>A	(Likely) benign	2 labs	c81d3cb145
17:74468761 RHBDF2 T>C	17	74468761	74468761	T	C	RHBDF2	c.2151+7A>G	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74468761T>C	(Likely) benign	2 labs	c824bc0d87
1:3313031 PRDM16 TTCTC>T	1	3313031	3313038	TTCTC	T	PRDM16	c.574-20_574-17del	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3313035_3313038del	(Likely) benign	4 labs	c82a759e91
1:40769783 COL9A2 G>A	1	40769783	40769783	G	A	COL9A2	c.1288-12C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769783G>A	(Likely) benign	2 labs	c82c51bce3
6:33137882 COL11A2 A>G	6	33137882	33137882	A	G	COL11A2	c.3583-5T>C	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33137882A>G	(Likely) benign	3 labs	c83e14c7ae
6:56819326 DST G>C	6	56819326	56819326	G	C	DST	c.60C>G	NM_001144769.5	NP_001138241.1:p.(Phe20Leu)	NC_000006.11:g.56819326G>C	(Likely) benign	2 labs	c843fb76c4
1:156106818 LMNA C>T	1	156106818	156106818	C	T	LMNA	c.1487C>T	NM_170707.4	NP_733821.1:p.(Thr496Met)	NC_000001.10:g.156106818C>T	VUS	3 labs	c84625e3a0
1:156106699 LMNA A>G	1	156106699	156106699	A	G	LMNA	c.1381-13A>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106699A>G	(Likely) benign	2 labs	c84ecb6537
7:75932038 HSPB1 G>A	7	75932038	75932038	G	A	HSPB1	c.9G>A	NM_001540.5	NP_001531.1:p.(Glu3=)	NC_000007.13:g.75932038G>A	(Likely) benign	3 labs	c84fe64066
4:123663761 BBS12 T>G	4	123663761	123663761	T	G	BBS12	c.714T>G	NM_001178007.2	NP_001171478.1:p.(Asn238Lys)	NC_000004.11:g.123663761T>G	(Likely) benign	3 labs	c862dd2b98
2:179443447 TTN A>G	2	179443447	179443447	A	G	TTN	c.68225-5T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179443447A>G	(Likely) benign	2 labs	c87d8cb562
15:35086861 ACTC1 G>GA	15	35086861	35086862	G	GA	ACTC1	c.129+19_129+20insT	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35086861_35086862insA	(Likely) benign	2 labs	c89d4b436d
2:233348162 ECEL1 C>T	2	233348162	233348162	C	T	ECEL1	c.1470G>A	NM_004826.4	NP_004817.2:p.(Trp490Ter)	NC_000002.11:g.233348162C>T	(Likely) pathogenic	2 labs	c89dbb5236
7:128488734 FLNC G>A	7	128488734	128488734	G	A	FLNC	c.4700G>A	NM_001458.5	NP_001449.3:p.(Arg1567Gln)	NC_000007.13:g.128488734G>A	(Likely) benign	2 labs	c8b2e8b252
2:179578108 TTN T>TACAAAACAAAACAAAACAAAACAAAACAAA	2	179578108	179578139	T	TACAAAACAAAACAAAACAAAACAAAACAAA	TTN	c.26762-39_26762-10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578110_179578139dup	(Likely) benign	2 labs	c8b75927bc
22:29885369 NEFH C>T	22	29885369	29885369	C	T	NEFH	c.1740C>T	NM_021076.4	NP_066554.2:p.(Ser580=)	NC_000022.10:g.29885369C>T	(Likely) benign	2 labs	c8ba560399
11:68181438 LRP5 G>A	11	68181438	68181438	G	A	LRP5	c.1042G>A	NM_001291902.2	NP_001278831.1:p.(Ala348Thr)	NC_000011.9:g.68181438G>A	VUS	2 labs	c8bc04006e
5:149511636 PDGFRB C>G	5	149511636	149511636	C	G	PDGFRB	c.1149G>C	NM_002609.4	NP_002600.1:p.(Leu383=)	NC_000005.9:g.149511636C>G	(Likely) benign	3 labs	c8c06be38f
17:39974642 FKBP10 A>G	17	39974642	39974642	A	G	FKBP10	c.590A>G	NM_021939.4	NP_068758.3:p.(Lys197Arg)	NC_000017.10:g.39974642A>G	(Likely) benign	2 labs	c8c0c8c1b7
15:48722884 FBN1 A>G	15	48722884	48722884	A	G	FBN1	c.6855T>C	NM_000138.5	NP_000129.3:p.(Asp2285=)	NC_000015.9:g.48722884A>G	(Likely) benign	2 labs	c8c1e2a328
17:73512853 TSEN54 C>T	17	73512853	73512853	C	T	TSEN54	c.83C>T	NM_207346.3	NP_997229.2:p.(Ser28Leu)	NC_000017.10:g.73512853C>T	VUS	2 labs	c8cbdd148f
2:169985338 LRP2 C>T	2	169985338	169985338	C	T	LRP2	c.13803G>A	NM_004525.3	NP_004516.2:p.(Met4601Ile)	NC_000002.11:g.169985338C>T	(Likely) benign	3 labs	c8efd15db1
17:2237938 TSR1 CCCA>C	17	2237938	2237944	CCCA	C	TSR1	c.806_808del	NM_018128.5	NP_060598.3:p.(Val269del)	NC_000017.10:g.2237942_2237944del	(Likely) benign	2 labs	c8f660998a
1:241663902 FH T>TGAGAGAGA	1	241663902	241663940	T	TGAGAGAGA	FH	c.1237-20_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663933_241663940dup	(Likely) benign	3 labs	c8ff101c7c
16:3820605 CREBBP G>A	16	3820605	3820605	G	A	CREBBP	c.2846C>T	NM_004380.3	NP_004371.2:p.(Pro949Leu)	NC_000016.9:g.3820605G>A	VUS	2 labs	c92007888f
15:44903029 SPG11 T>C	15	44903029	44903029	T	C	SPG11	c.3291+9A>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44903029T>C	(Likely) benign	3 labs	c90ed41f94
15:52646049 MYO5A G>A	15	52646049	52646049	G	A	MYO5A	c.3567+19C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52646049G>A	(Likely) benign	2 labs	c9148d8b24
15:44955803 SPG11 C>T	15	44955803	44955803	C	T	SPG11	c.43G>A	NM_025137.4	NP_079413.3:p.(Gly15Ser)	NC_000015.9:g.44955803C>T	(Likely) benign	2 labs	c91e474c9f
7:107330665 SLC26A4 A>C	7	107330665	107330665	A	C	SLC26A4	c.1246A>C	NM_000441.2	NP_000432.1:p.(Thr416Pro)	NC_000007.13:g.107330665A>C	(Likely) pathogenic	2 labs	c91e4fccfb
17:74470194 RHBDF2 C>A	17	74470194	74470194	C	A	RHBDF2	c.1582G>T	NM_024599.5	NP_078875.4:p.(Asp528Tyr)	NC_000017.10:g.74470194C>A	(Likely) benign	4 labs	c92ad0020c
9:100616700 FOXE1 A>AGCC	9	100616700	100616733	A	AGCC	FOXE1	c.535_537dup	NM_004473.4	NP_004464.2:p.(Ala179dup)	NC_000009.11:g.100616731_100616733dup	(Likely) benign	2 labs	c931012cc9
2:179435114 TTN G>A	2	179435114	179435114	G	A	TTN	c.75745C>T	NM_001267550.2	NP_001254479.2:p.(Arg25249Cys)	NC_000002.11:g.179435114G>A	(Likely) benign	3 labs	c93b036b57
X:41206602 DDX3X C>T	X	41206602	41206602	C	T	DDX3X	c.1807C>T	NM_001356.5	NP_001347.3:p.(Arg603Ter)	NC_000023.10:g.41206602C>T	(Likely) pathogenic	2 labs	c93e665091
X:130410965 IGSF1 A>G	X	130410965	130410965	A	G	IGSF1	c.2571T>C	NM_001170961.2	NP_001164432.1:p.(Tyr857=)	NC_000023.10:g.130410965A>G	(Likely) benign	2 labs	c956b2825d
14:76429706 TGFB3 CT>C	14	76429706	76429707	CT	C	TGFB3	c.878del	NM_003239.5	NP_003230.1:p.(Gln293ArgfsTer76)	NC_000014.8:g.76429707del	(Likely) pathogenic	2 labs	c956581ca9
15:78913067 CHRNA3 ACAGCAG>A	15	78913067	78913089	ACAGCAG	A	CHRNA3	c.64_69del	NM_000743.5	NP_000734.2:p.(Leu22_Leu23del)	NC_000015.9:g.78913084_78913089del	(Likely) benign	2 labs	c95cc23d98
13:32912806 BRCA2 C>T	13	32912806	32912806	C	T	BRCA2	c.4314C>T	NM_000059.4	NP_000050.3:p.(Val1438=)	NC_000013.10:g.32912806C>T	(Likely) benign	2 labs	c961d040bc
13:32911912 BRCA2 T>C	13	32911912	32911912	T	C	BRCA2	c.3420T>C	NM_000059.4	NP_000050.3:p.(Ser1140=)	NC_000013.10:g.32911912T>C	(Likely) benign	4 labs	c961f0fd7c
15:85400141 ALPK3 T>G	15	85400141	85400141	T	G	ALPK3	c.2172T>G	NM_020778.5	NP_065829.4:p.(Ser724=)	NC_000015.9:g.85400141T>G	(Likely) benign	2 labs	c968b227b9
12:2788637 CACNA1C G>A	12	2788637	2788637	G	A	CACNA1C	c.5263G>A	NM_199460.4	NP_955630.3:p.(Val1755Ile)	NC_000012.11:g.2788637G>A	(Likely) benign	3 labs	c9804959b6
6:100897541 SIM1 A>G	6	100897541	100897541	A	G	SIM1	c.383T>C	NM_005068.3	NP_005059.2:p.(Ile128Thr)	NC_000006.11:g.100897541A>G	(Likely) benign	2 labs	c980788a35
17:42427049 GRN G>A	17	42427049	42427049	G	A	GRN	c.279G>A	NM_002087.4	NP_002078.1:p.(Gly93=)	NC_000017.10:g.42427049G>A	(Likely) benign	2 labs	c98474717a
12:49420493 KMT2D G>A	12	49420493	49420493	G	A	KMT2D	c.15256C>T	NM_003482.4	NP_003473.3:p.(Arg5086Ter)	NC_000012.11:g.49420493G>A	(Likely) pathogenic	2 labs	c98d653712
8:68334816 CPA6 G>A	8	68334816	68334816	G	A	CPA6	c.1237C>T	NM_020361.5	NP_065094.3:p.(Leu413Phe)	NC_000008.10:g.68334816G>A	(Likely) benign	2 labs	c991b00f5a
2:163133952 IFIH1 C>T	2	163133952	163133952	C	T	IFIH1	c.2017G>A	NM_022168.4	NP_071451.2:p.(Asp673Asn)	NC_000002.11:g.163133952C>T	VUS	2 labs	c994792881
20:31023899 ASXL1 C>T	20	31023899	31023899	C	T	ASXL1	c.3384C>T	NM_015338.6	NP_056153.2:p.(Asp1128=)	NC_000020.10:g.31023899C>T	(Likely) benign	3 labs	c9991a5deb
15:23889873 MAGEL2 G>C	15	23889873	23889873	G	C	MAGEL2	c.3017C>G	NM_019066.5	NP_061939.3:p.(Thr1006Ser)	NC_000015.9:g.23889873G>C	(Likely) benign	4 labs	c99b899088
19:40902005 PRX C>T	19	40902005	40902005	C	T	PRX	c.2254G>A	NM_181882.3	NP_870998.2:p.(Glu752Lys)	NC_000019.9:g.40902005C>T	(Likely) benign	2 labs	c9aa0bacc5
12:2786404 CACNA1C G>A	12	2786404	2786404	G	A	CACNA1C	c.5100+17G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2786404G>A	(Likely) benign	2 labs	c9abaee1cb
X:49081230 CACNA1F C>T	X	49081230	49081230	C	T	CACNA1F	c.1903G>A	NM_005183.4	NP_005174.2:p.(Val635Ile)	NC_000023.10:g.49081230C>T	(Likely) benign	4 labs	c9b67eabed
8:100874140 VPS13B A>G	8	100874140	100874140	A	G	VPS13B	c.11256A>G	NM_017890.5	NP_060360.3:p.(Arg3752=)	NC_000008.10:g.100874140A>G	(Likely) benign	3 labs	c9bc231649
2:48028314 MSH6 T>C	2	48028314	48028314	T	C	MSH6	c.3172+20T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48028314T>C	(Likely) benign	3 labs	c9c17c5aba
2:238249370 COL6A3 G>T	2	238249370	238249370	G	T	COL6A3	c.8189C>A	NM_004369.4	NP_004360.2:p.(Ala2730Asp)	NC_000002.11:g.238249370G>T	VUS	3 labs	c9c5dc1122
7:42088232 GLI3 G>A	7	42088232	42088232	G	A	GLI3	c.537C>T	NM_000168.6	NP_000159.3:p.(His179=)	NC_000007.13:g.42088232G>A	(Likely) benign	2 labs	c9c8b91f89
12:40702987 LRRK2 G>A	12	40702987	40702987	G	A	LRRK2	c.4269G>A	NM_198578.4	NP_940980.4:p.(Lys1423=)	NC_000012.11:g.40702987G>A	(Likely) benign	2 labs	c9cb6b14b2
10:121411253 BAG3 GC>G	10	121411253	121411259	GC	G	BAG3	c.72del	NM_004281.4	NP_004272.2:p.(Gly25AspfsTer186)	NC_000010.10:g.121411259del	(Likely) pathogenic	2 labs	c9cc857e63
22:19748468 TBX1 G>T	22	19748468	19748468	G	T	TBX1	c.75G>T	NM_080647.1	NP_542378.1:p.(Gly25=)	NC_000022.10:g.19748468G>T	(Likely) benign	2 labs	c9d98f76f1
19:35524944 SCN1B G>C	19	35524944	35524944	G	C	SCN1B	c.749G>C	NM_199037.5	NP_950238.1:p.(Arg250Thr)	NC_000019.9:g.35524944G>C	(Likely) benign	3 labs	c9da15bf4d
13:32911564 BRCA2 T>TAAG	13	32911564	32911571	T	TAAG	BRCA2	c.3077_3079dup	NM_000059.4	NP_000050.3:p.(Lys1026dup)	NC_000013.10:g.32911569_32911571dup	VUS	4 labs	c9e7438aa9
1:984669 AGRN C>T	1	984669	984669	C	T	AGRN	c.4037C>T	NM_001364727.2	NP_001351656.1:p.(Pro1346Leu)	NC_000001.10:g.984669C>T	(Likely) benign	3 labs	c9feb66d8c
2:179606454 TTN C>T	2	179606454	179606454	C	T	TTN	c.11506G>A	NM_001267550.2	NP_001254479.2:p.(Val3836Met)	NC_000002.11:g.179606454C>T	(Likely) benign	2 labs	ca03e70be4
11:48149590 PTPRJ A>G	11	48149590	48149590	A	G	PTPRJ	c.1352A>G	NM_002843.4	NP_002834.3:p.(His451Arg)	NC_000011.9:g.48149590A>G	(Likely) benign	2 labs	ca391150cb
11:65308406 LTBP3 G>A	11	65308406	65308406	G	A	LTBP3	c.2913C>T	NM_001130144.3	NP_001123616.1:p.(Cys971=)	NC_000011.9:g.65308406G>A	(Likely) benign	3 labs	ca070024df
8:38285620 FGFR1 G>C	8	38285620	38285620	G	C	FGFR1	c.425-9C>G	NM_001174064.2	NP_001167535.1:p.?	NC_000008.10:g.38285620G>C	(Likely) benign	4 labs	ca1160c42a
3:145822093 PLOD2 T>C	3	145822093	145822093	T	C	PLOD2	c.652A>G	NM_182943.3	NP_891988.1:p.(Ile218Val)	NC_000003.11:g.145822093T>C	(Likely) benign	2 labs	ca13460cde
19:47111761 CALM3 G>A	19	47111761	47111761	G	A	CALM3	c.201G>A	NM_005184.4	NP_005175.2:p.(Pro67=)	NC_000019.9:g.47111761G>A	(Likely) benign	3 labs	ca234d215f
22:50895511 SBF1 G>A	22	50895511	50895511	G	A	SBF1	c.3856C>T	NM_002972.4	NP_002963.2:p.(Leu1286=)	NC_000022.10:g.50895511G>A	(Likely) benign	2 labs	ca24cb7da9
10:73544686 CDH23 C>T	10	73544686	73544686	C	T	CDH23	c.5541C>T	NM_022124.6	NP_071407.4:p.(Asn1847=)	NC_000010.10:g.73544686C>T	(Likely) benign	2 labs	ca28c31a44
13:32914202 BRCA2 C>G	13	32914202	32914202	C	G	BRCA2	c.5710C>G	NM_000059.4	NP_000050.3:p.(Leu1904Val)	NC_000013.10:g.32914202C>G	(Likely) benign	4 labs	ca29a0bb1c
11:76888643 MYO7A G>A	11	76888643	76888643	G	A	MYO7A	c.2236G>A	NM_000260.4	NP_000251.3:p.(Asp746Asn)	NC_000011.9:g.76888643G>A	(Likely) benign	2 labs	ca2d33f359
14:91755603 CCDC88C G>A	14	91755603	91755603	G	A	CCDC88C	c.4287C>T	NM_001080414.4	NP_001073883.2:p.(Thr1429=)	NC_000014.8:g.91755603G>A	(Likely) benign	3 labs	ca3980a6f1
X:123518206 TENM1 T>A	X	123518206	123518206	T	A	TENM1	c.6575A>T	NM_001163278.1	NP_001156750.1:p.(His2192Leu)	NC_000023.10:g.123518206T>A	(Likely) benign	2 labs	ca3f3613da
2:179639636 TTN G>A	2	179639636	179639636	G	A	TTN	c.6790+12C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179639636G>A	(Likely) benign	3 labs	ca3f7de4c4
17:10427924 MYH2 G>A	17	10427924	10427924	G	A	MYH2	c.5034C>T	NM_001100112.2	NP_001093582.1:p.(Ala1678=)	NC_000017.10:g.10427924G>A	(Likely) benign	2 labs	ca4d5be41b
6:152470609 SYNE1 T>C	6	152470609	152470609	T	C	SYNE1	c.24429+3A>G	NM_033071.4	NP_149062.2:p.?	NC_000006.11:g.152470609T>C	(Likely) benign	2 labs	ca52b67dee
9:135204872 SETX T>G	9	135204872	135204872	T	G	SETX	c.2113A>C	NM_015046.7	NP_055861.3:p.(Ile705Leu)	NC_000009.11:g.135204872T>G	(Likely) benign	2 labs	ca59897fef
13:32907408 BRCA2 CATCTT>C	13	32907408	32907415	CATCTT	C	BRCA2	c.1796_1800del	NM_000059.4	NP_000050.3:p.(Ser599Ter)	NC_000013.10:g.32907411_32907415del	(Likely) pathogenic	3 labs	ca562f6122
19:10270390 DNMT1 G>A	19	10270390	10270390	G	A	DNMT1	c.1224C>T	NM_001130823.3	NP_001124295.1:p.(Asn408=)	NC_000019.9:g.10270390G>A	(Likely) benign	3 labs	ca64cf8fd3
20:57415698 GNAS G>A	20	57415698	57415698	G	A	GNAS	c.537G>A	NM_016592.5	NP_057676.1:p.(Pro179=)	NC_000020.10:g.57415698G>A	(Likely) benign	2 labs	ca6793d7df
10:94408207 KIF11 A>G	10	94408207	94408207	A	G	KIF11	c.2770+16A>G	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94408207A>G	(Likely) benign	2 labs	ca78b567e3
17:41245528 BRCA1 GT>G	17	41245528	41245530	GT	G	BRCA1	c.2019del	NM_007294.4	NP_009225.1:p.(Glu673AspfsTer28)	NC_000017.10:g.41245530del	(Likely) pathogenic	3 labs	ca74609872
7:150646143 KCNH2 G>A	7	150646143	150646143	G	A	KCNH2	c.2399-6C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150646143G>A	(Likely) benign	2 labs	ca8f61b66b
22:38565347 PLA2G6 C>T	22	38565347	38565347	C	T	PLA2G6	c.87G>A	NM_003560.4	NP_003551.2:p.(Val29=)	NC_000022.10:g.38565347C>T	(Likely) benign	2 labs	ca91e7dc6b
X:129299577 AIFM1 G>C	X	129299577	129299577	G	C	AIFM1	c.54C>G	NM_001130847.4	NP_001124319.1:p.(Pro18=)	NC_000023.10:g.129299577G>C	(Likely) benign	2 labs	caa669b426
2:32366975 SPAST G>A	2	32366975	32366975	G	A	SPAST	c.1496G>A	NM_014946.4	NP_055761.2:p.(Arg499His)	NC_000002.11:g.32366975G>A	(Likely) pathogenic	2 labs	caad851a91
3:38662393 SCN5A G>A	3	38662393	38662393	G	A	SCN5A	c.552C>T	NM_198056.3	NP_932173.1:p.(His184=)	NC_000003.11:g.38662393G>A	(Likely) benign	2 labs	cab125d78a
1:3319339 PRDM16 G>A	1	3319339	3319339	G	A	PRDM16	c.677-16G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319339G>A	(Likely) benign	2 labs	cab2702898
11:46332586 CREB3L1 A>T	11	46332586	46332586	A	T	CREB3L1	c.599A>T	NM_052854.4	NP_443086.1:p.(Asp200Val)	NC_000011.9:g.46332586A>T	(Likely) benign	2 labs	cab618d577
11:116707736 APOA1 C>T	11	116707736	116707736	C	T	APOA1	c.181G>A	NM_001318017.2	NP_001304946.1:p.(Ala61Thr)	NC_000011.9:g.116707736C>T	(Likely) benign	2 labs	cab7571476
1:12016957 PLOD1 T>G	1	12016957	12016957	T	G	PLOD1	c.644-17T>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12016957T>G	(Likely) benign	2 labs	cab7e98582
4:17488876 QDPR A>G	4	17488876	17488876	A	G	QDPR	c.630-17T>C	NM_000320.3	NP_000311.2:p.?	NC_000004.11:g.17488876A>G	(Likely) benign	2 labs	cab8a53570
X:131214290 FRMD7 G>A	X	131214290	131214290	G	A	FRMD7	c.910C>T	NM_194277.3	NP_919253.1:p.(Arg304Ter)	NC_000023.10:g.131214290G>A	(Likely) pathogenic	3 labs	cabd796f90
X:32490293 DMD G>A	X	32490293	32490293	G	A	DMD	c.2937C>T	NM_004006.3	NP_003997.2:p.(Leu979=)	NC_000023.10:g.32490293G>A	(Likely) benign	2 labs	cac51c05d6
3:38908944 SCN11A T>C	3	38908944	38908944	T	C	SCN11A	c.3819A>G	NM_014139.3	NP_054858.2:p.(Glu1273=)	NC_000003.11:g.38908944T>C	(Likely) benign	2 labs	cacfe86d82
21:47685939 MCM3AP A>G	21	47685939	47685939	A	G	MCM3AP	c.2931T>C	NM_003906.5	NP_003897.2:p.(His977=)	NC_000021.8:g.47685939A>G	(Likely) benign	2 labs	cadc725587
9:340229 DOCK8 C>G	9	340229	340229	C	G	DOCK8	c.1587C>G	NM_203447.4	NP_982272.2:p.(Pro529=)	NC_000009.11:g.340229C>G	(Likely) benign	2 labs	cadda28eed
9:134381560 POMT1 TG>T	9	134381560	134381562	TG	T	POMT1	c.184del	NM_001077365.2	NP_001070833.1:p.(Asp62MetfsTer18)	NC_000009.11:g.134381562del	(Likely) pathogenic	2 labs	cae5a8c286
X:38240577 OTC CT>C	X	38240577	38240587	CT	C	OTC	c.299-8del	NM_000531.6	NP_000522.3:p.?	NC_000023.10:g.38240587del	(Likely) benign	3 labs	caf1e9baf8
2:179419341 TTN C>T	2	179419341	179419341	C	T	TTN	c.88733G>A	NM_001267550.2	NP_001254479.2:p.(Arg29578His)	NC_000002.11:g.179419341C>T	VUS	2 labs	cb0491d398
2:38298338 CYP1B1 C>T	2	38298338	38298338	C	T	CYP1B1	c.1159G>A	NM_000104.4	NP_000095.2:p.(Glu387Lys)	NC_000002.11:g.38298338C>T	(Likely) pathogenic	2 labs	cb0665fd19
17:4802185 CHRNE TC>T	17	4802185	4802187	TC	T	CHRNE	c.1327del	NM_000080.4	NP_000071.1:p.(Glu443LysfsTer64)	NC_000017.10:g.4802187del	(Likely) pathogenic	2 labs	cb092cc18f
5:77406088 AP3B1 G>A	5	77406088	77406088	G	A	AP3B1	c.2193C>T	NM_001271769.2	NP_001258698.1:p.(Ser731=)	NC_000005.9:g.77406088G>A	(Likely) benign	2 labs	cb16944c5b
1:156104220 LMNA G>A	1	156104220	156104220	G	A	LMNA	c.540G>A	NM_170707.4	NP_733821.1:p.(Lys180=)	NC_000001.10:g.156104220G>A	(Likely) benign	2 labs	cb1a06f1a6
2:189917758 COL5A2 T>C	2	189917758	189917758	T	C	COL5A2	c.2554-14A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917758T>C	(Likely) benign	2 labs	cb1d1c0abf
11:68192725 LRP5 C>T	11	68192725	68192725	C	T	LRP5	c.1649C>T	NM_001291902.2	NP_001278831.1:p.(Ala550Val)	NC_000011.9:g.68192725C>T	VUS	2 labs	cb1d833a72
12:122260635 SETD1B G>C	12	122260635	122260635	G	C	SETD1B	c.4150G>C	NM_001353345.2	NP_001340274.1:p.(Gly1384Arg)	NC_000012.11:g.122260635G>C	(Likely) benign	2 labs	cb25feb751
22:21212960 PI4KA GCCGCCGCCGCCT>G	22	21212960	21212977	GCCGCCGCCGCCT	G	PI4KA	c.42_53del	NM_058004.4	NP_477352.3:p.(Gly15_Gly18del)	NC_000022.10:g.21212966_21212977del	(Likely) benign	2 labs	cb280b3401
14:23855785 MYH6 C>T	14	23855785	23855785	C	T	MYH6	c.4698G>A	NM_002471.4	NP_002462.2:p.(Glu1566=)	NC_000014.8:g.23855785C>T	(Likely) benign	2 labs	cb392e80e9
12:5154232 KCNA5 C>T	12	5154232	5154232	C	T	KCNA5	c.919C>T	NM_002234.4	NP_002225.2:p.(Pro307Ser)	NC_000012.11:g.5154232C>T	(Likely) benign	3 labs	cb42314599
X:129299528 AIFM1 G>A	X	129299528	129299528	G	A	AIFM1	c.103C>T	NM_001130847.4	NP_001124319.1:p.(Pro35Ser)	NC_000023.10:g.129299528G>A	(Likely) benign	3 labs	cb467c5da7
16:15892553 MYH11 A>G	16	15892553	15892553	A	G	MYH11	c.503-9T>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15892553A>G	(Likely) benign	3 labs	cb4e72c09e
1:5937189 NPHP4 G>A	1	5937189	5937189	G	A	NPHP4	c.2781C>T	NM_015102.5	NP_055917.1:p.(Ala927=)	NC_000001.10:g.5937189G>A	(Likely) benign	2 labs	cb5435b255
5:90459586 ADGRV1 A>G	5	90459586	90459586	A	G	ADGRV1	c.18803-13A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90459586A>G	(Likely) benign	2 labs	cb54c4d315
2:166909392 SCN1A G>A	2	166909392	166909392	G	A	SCN1A	c.664C>T	NM_001165963.4	NP_001159435.1:p.(Arg222Ter)	NC_000002.11:g.166909392G>A	(Likely) pathogenic	2 labs	cb5ad18e8d
9:35062327 VCP A>G	9	35062327	35062327	A	G	VCP	c.832T>C	NM_007126.5	NP_009057.1:p.(Leu278=)	NC_000009.11:g.35062327A>G	(Likely) benign	2 labs	cb63e5a036
4:47973078 CNGA1 C>T	4	47973078	47973078	C	T	CNGA1	c.-180G>A	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47973078C>T	VUS	2 labs	cb73f4b1da
6:64430522 EYS A>T	6	64430522	64430522	A	T	EYS	c.9468T>A	NM_001292009.1	NP_001278938.1:p.(Tyr3156Ter)	NC_000006.11:g.64430522A>T	(Likely) pathogenic	3 labs	cb73f7e07d
10:88466426 LDB3 C>T	10	88466426	88466426	C	T	LDB3	c.1035C>T	NM_007078.3	NP_009009.1:p.(Ile345=)	NC_000010.10:g.88466426C>T	(Likely) benign	6 labs	cb85875f9f
16:88496531 ZNF469 C>G	16	88496531	88496531	C	G	ZNF469	c.2653C>G	NM_001367624.2	NP_001354553.1:p.(Leu885Val)	NC_000016.9:g.88496531C>G	(Likely) benign	2 labs	cb864d0986
2:167145151 SCN9A C>T	2	167145151	167145151	C	T	SCN9A	c.1110G>A	NM_002977.3	NP_002968.1:p.(Thr370=)	NC_000002.11:g.167145151C>T	(Likely) benign	2 labs	cba9b912a7
6:41126619 TREM2 G>A	6	41126619	41126619	G	A	TREM2	c.668C>T	NM_018965.4	NP_061838.1:p.(Thr223Ile)	NC_000006.11:g.41126619G>A	(Likely) benign	3 labs	cbac71dfc3
11:95657026 MTMR2 G>A	11	95657026	95657026	G	A	MTMR2	c.-404+13C>T	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95657026G>A	(Likely) benign	2 labs	cbb42b7029
19:8668721 ADAMTS10 C>T	19	8668721	8668721	C	T	ADAMTS10	c.483G>A	NM_030957.4	NP_112219.3:p.(Leu161=)	NC_000019.9:g.8668721C>T	(Likely) benign	2 labs	cbc87ded94
2:179446620 TTN C>A	2	179446620	179446620	C	A	TTN	c.66463+13G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179446620C>A	(Likely) benign	2 labs	cbce682d5e
2:179412909 TTN G>A	2	179412909	179412909	G	A	TTN	c.93444C>T	NM_001267550.2	NP_001254479.2:p.(Tyr31148=)	NC_000002.11:g.179412909G>A	(Likely) benign	4 labs	cbd0fac739
3:148891521 CP T>C	3	148891521	148891521	T	C	CP	c.3182-4A>G	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148891521T>C	(Likely) benign	2 labs	cbd343f898
14:102500646 DYNC1H1 C>T	14	102500646	102500646	C	T	DYNC1H1	c.10627-16C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102500646C>T	(Likely) benign	2 labs	cbda73caed
1:3342635 PRDM16 C>T	1	3342635	3342635	C	T	PRDM16	c.3130C>T	NM_022114.4	NP_071397.3:p.(Leu1044Phe)	NC_000001.10:g.3342635C>T	(Likely) benign	3 labs	cbe7cc7030
13:111160304 COL4A2 G>A	13	111160304	111160304	G	A	COL4A2	c.4617G>A	NM_001846.4	NP_001837.2:p.(Ala1539=)	NC_000013.10:g.111160304G>A	(Likely) benign	2 labs	cbea065923
22:21341882 LZTR1 C>T	22	21341882	21341882	C	T	LZTR1	c.400+10C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21341882C>T	(Likely) benign	2 labs	cbfb4455ef
19:45411858 APOE C>G	19	45411858	45411858	C	G	APOE	c.383C>G	NM_001302688.2	NP_001289617.1:p.(Pro128Arg)	NC_000019.9:g.45411858C>G	VUS	2 labs	cc1d12ff9c
2:179529170 TTN GACAGTTAAGAATGTACCTTTGACAGGTACA>G	2	179529170	179529202	GACAGTTAAGAATGTACCTTTGACAGGTACA	G	TTN	c.36267_36280+16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529173_179529202del	(Likely) benign	2 labs	cc03ab5537
18:47109955 LIPG A>G	18	47109955	47109955	A	G	LIPG	c.1187A>G	NM_006033.4	NP_006024.1:p.(Asn396Ser)	NC_000018.9:g.47109955A>G	(Likely) benign	2 labs	cc1f1feff4
2:73799792 ALMS1 G>C	2	73799792	73799792	G	C	ALMS1	c.10791G>C	NM_015120.4	NP_055935.4:p.(Val3597=)	NC_000002.11:g.73799792G>C	(Likely) benign	3 labs	cc1f842823
11:116707834 APOA1 G>C	11	116707834	116707834	G	C	APOA1	c.83C>G	NM_000039.3	NP_000030.1:p.(Pro28Arg)	NC_000011.9:g.116707834G>C	VUS	2 labs	cc21cd8262
22:29121058 CHEK2 C>T	22	29121058	29121058	C	T	CHEK2	c.499G>A	NM_007194.4	NP_009125.1:p.(Gly167Arg)	NC_000022.10:g.29121058C>T	(Likely) pathogenic	5 labs	cc2f746676
11:2591882 KCNQ1 G>A	11	2591882	2591882	G	A	KCNQ1	c.502G>A	NM_000218.3	NP_000209.2:p.(Gly168Arg)	NC_000011.9:g.2591882G>A	(Likely) pathogenic	2 labs	cc2f0ef15f
15:48888508 FBN1 G>A	15	48888508	48888508	G	A	FBN1	c.510C>T	NM_000138.5	NP_000129.3:p.(Tyr170=)	NC_000015.9:g.48888508G>A	(Likely) benign	3 labs	cc3182b4e5
7:151478497 PRKAG2 C>T	7	151478497	151478497	C	T	PRKAG2	c.207G>A	NM_016203.4	NP_057287.2:p.(Pro69=)	NC_000007.13:g.151478497C>T	(Likely) benign	3 labs	cc3c515ee7
3:58090803 FLNB G>A	3	58090803	58090803	G	A	FLNB	c.1611-4G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58090803G>A	(Likely) benign	2 labs	cc548ac445
2:179578704 TTN G>A	2	179578704	179578704	G	A	TTN	c.26681C>T	NM_001267550.2	NP_001254479.2:p.(Pro8894Leu)	NC_000002.11:g.179578704G>A	(Likely) benign	2 labs	cc41ac5a0f
6:7575687 DSP C>T	6	7575687	7575687	C	T	DSP	c.2596C>T	NM_004415.4	NP_004406.2:p.(Arg866Cys)	NC_000006.11:g.7575687C>T	(Likely) benign	2 labs	cc47ce01ca
19:2112844 AP3D1 G>T	19	2112844	2112844	G	T	AP3D1	c.2787+15C>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2112844G>T	(Likely) benign	2 labs	cc49b61176
8:94772225 TMEM67 A>G	8	94772225	94772225	A	G	TMEM67	c.406+1421A>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94772225A>G	VUS	2 labs	cc55d81ed3
19:42486278 ATP1A3 A>C	19	42486278	42486278	A	C	ATP1A3	c.994-20T>G	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42486278A>C	(Likely) benign	4 labs	cc57add8ff
1:228346425 GJC2 G>C	1	228346425	228346425	G	C	GJC2	c.966G>C	NM_020435.4	NP_065168.2:p.(Ala322=)	NC_000001.10:g.228346425G>C	(Likely) benign	2 labs	cc5a828933
20:10386055 MKKS C>T	20	10386055	10386055	C	T	MKKS	c.1553G>A	NM_018848.3	NP_061336.1:p.(Arg518His)	NC_000020.10:g.10386055C>T	(Likely) benign	3 labs	cc6d297c20
10:67829246 CTNNA3 G>A	10	67829246	67829246	G	A	CTNNA3	c.1979C>T	NM_013266.4	NP_037398.2:p.(Ala660Val)	NC_000010.10:g.67829246G>A	VUS	2 labs	cc6e52646d
15:49089570 CEP152 A>AC	15	49089570	49089572	A	AC	CEP152	c.467dup	NM_001194998.2	NP_001181927.1:p.(Gln157SerfsTer6)	NC_000015.9:g.49089572dup	(Likely) pathogenic	2 labs	cc6f591e70
17:58235128 CA4 G>A	17	58235128	58235128	G	A	CA4	c.492G>A	NM_000717.5	NP_000708.1:p.(Ala164=)	NC_000017.10:g.58235128G>A	(Likely) benign	2 labs	cc7eef0912
2:74779683 LOXL3 G>C	2	74779683	74779683	G	C	LOXL3	c.79C>G	NM_032603.5	NP_115992.1:p.(Pro27Ala)	NC_000002.11:g.74779683G>C	(Likely) benign	2 labs	cc89c26bbf
1:116310937 CASQ2 C>T	1	116310937	116310937	C	T	CASQ2	c.226G>A	NM_001232.4	NP_001223.2:p.(Val76Met)	NC_000001.10:g.116310937C>T	(Likely) benign	4 labs	cc8a025b20
6:82461465 TENT5A C>G	6	82461465	82461465	C	G	TENT5A	c.394G>C	NM_017633.3	NP_060103.2:p.(Asp132His)	NC_000006.11:g.82461465C>G	(Likely) benign	2 labs	cc8a8acd02
1:201331098 TNNT2 ATCT>A	1	201331098	201331111	ATCT	A	TNNT2	c.629_631del	NM_001001430.3	NP_001001430.1:p.(Lys210del)	NC_000001.10:g.201331109_201331111del	(Likely) pathogenic	3 labs	cc9af6bfea
10:69925539 MYPN G>A	10	69925539	69925539	G	A	MYPN	c.1564G>A	NM_032578.4	NP_115967.2:p.(Gly522Ser)	NC_000010.10:g.69925539G>A	VUS	2 labs	ccb2dee6de
11:47355475 MYBPC3 G>C	11	47355475	47355475	G	C	MYBPC3	c.2992C>G	NM_000256.3	NP_000247.2:p.(Gln998Glu)	NC_000011.9:g.47355475G>C	(Likely) benign	3 labs	ccc45f7920
11:19207841 CSRP3 C>T	11	19207841	19207841	C	T	CSRP3	c.336G>A	NM_003476.5	NP_003467.1:p.(Ala112=)	NC_000011.9:g.19207841C>T	(Likely) benign	6 labs	cccf884bb4
5:118850709 HSD17B4 G>A	5	118850709	118850709	G	A	HSD17B4	c.1546G>A	NM_001199291.3	NP_001186220.1:p.(Ala516Thr)	NC_000005.9:g.118850709G>A	(Likely) benign	3 labs	cce35b5ecd
2:179445326 TTN C>G	2	179445326	179445326	C	G	TTN	c.66780G>C	NM_001267550.2	NP_001254479.2:p.(Glu22260Asp)	NC_000002.11:g.179445326C>G	VUS	2 labs	cce8925e9b
14:23883055 MYH7 G>A	14	23883055	23883055	G	A	MYH7	c.5703C>T	NM_000257.4	NP_000248.2:p.(His1901=)	NC_000014.8:g.23883055G>A	(Likely) benign	2 labs	ccfc046423
1:94485118 ABCA4 C>T	1	94485118	94485118	C	T	ABCA4	c.5196+20G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94485118C>T	(Likely) benign	2 labs	cd03ce9cdc
5:156184725 SGCD GAGA>G	5	156184725	156184730	GAGA	G	SGCD	c.712_714del	NM_172244.3	NP_758447.1:p.(Lys238del)	NC_000005.9:g.156184728_156184730del	(Likely) benign	6 labs	cd10296f32
15:31218072 FAN1 C>T	15	31218072	31218072	C	T	FAN1	c.2418C>T	NM_014967.5	NP_055782.3:p.(Asp806=)	NC_000015.9:g.31218072C>T	(Likely) benign	4 labs	cd08dd19b7
12:102036305 MYBPC1 C>T	12	102036305	102036305	C	T	MYBPC1	c.774C>T	NM_002465.4	NP_002456.2:p.(Asp258=)	NC_000012.11:g.102036305C>T	(Likely) benign	2 labs	cd0af109a1
8:145737620 RECQL4 T>C	8	145737620	145737620	T	C	RECQL4	c.3143A>G	NM_004260.4	NP_004251.4:p.(Lys1048Arg)	NC_000008.10:g.145737620T>C	(Likely) benign	2 labs	cd105f5934
6:7581627 DSP GGA>G	6	7581627	7581632	GGA	G	DSP	c.5208_5209del	NM_004415.4	NP_004406.2:p.(Gly1737ThrfsTer7)	NC_000006.11:g.7581631_7581632del	(Likely) pathogenic	2 labs	cd15063037
10:55780078 PCDH15 C>T	10	55780078	55780078	C	T	PCDH15	c.2640G>A	NM_001142771.2	NP_001136243.1:p.(Ser880=)	NC_000010.10:g.55780078C>T	(Likely) benign	2 labs	cd16beb766
3:100962459 IMPG2 G>A	3	100962459	100962459	G	A	IMPG2	c.2716C>T	NM_016247.4	NP_057331.2:p.(Arg906Ter)	NC_000003.11:g.100962459G>A	(Likely) pathogenic	3 labs	cd1dae98c9
14:77746759 POMT2 G>C	14	77746759	77746759	G	C	POMT2	c.1701C>G	NM_013382.7	NP_037514.2:p.(Pro567=)	NC_000014.8:g.77746759G>C	(Likely) benign	3 labs	cd210f4fe0
19:11358799 DOCK6 G>A	19	11358799	11358799	G	A	DOCK6	c.749C>T	NM_020812.4	NP_065863.2:p.(Pro250Leu)	NC_000019.9:g.11358799G>A	(Likely) benign	2 labs	cd284fef1e
3:123457727 MYLK GCAGA>G	3	123457727	123457735	GCAGA	G	MYLK	c.588+13_588+16del	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123457732_123457735del	(Likely) benign	2 labs	cd3291efcd
1:68903896 RPE65 A>G	1	68903896	68903896	A	G	RPE65	c.1102T>C	NM_000329.3	NP_000320.1:p.(Tyr368His)	NC_000001.10:g.68903896A>G	(Likely) pathogenic	2 labs	cd43b56151
15:80469886 FAH A>G	15	80469886	80469886	A	G	FAH	c.921A>G	NM_000137.4	NP_000128.1:p.(Gly307=)	NC_000015.9:g.80469886A>G	(Likely) benign	2 labs	cd4b945a63
1:78395029 NEXN C>G	1	78395029	78395029	C	G	NEXN	c.893C>G	NM_144573.4	NP_653174.3:p.(Thr298Arg)	NC_000001.10:g.78395029C>G	(Likely) benign	3 labs	cd4d6a314e
X:32614000 DMD G>C	X	32614000	32614000	G	C	DMD	c.1483-7C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32614000G>C	(Likely) benign	4 labs	cd51d353c0
17:37822311 TCAP A>C	17	37822311	37822311	A	C	TCAP	c.453A>C	NM_003673.4	NP_003664.1:p.(Ala151=)	NC_000017.10:g.37822311A>C	(Likely) benign	5 labs	cd577cb036
11:47364893 MYBPC3 C>T	11	47364893	47364893	C	T	MYBPC3	c.1224-80G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364893C>T	(Likely) pathogenic	3 labs	cd75c5fe24
2:179632534 TTN A>G	2	179632534	179632534	A	G	TTN	c.9423T>C	NM_001267550.2	NP_001254479.2:p.(Phe3141=)	NC_000002.11:g.179632534A>G	(Likely) benign	3 labs	cd7c892225
13:32911991 BRCA2 A>G	13	32911991	32911991	A	G	BRCA2	c.3499A>G	NM_000059.4	NP_000050.3:p.(Ile1167Val)	NC_000013.10:g.32911991A>G	(Likely) benign	3 labs	cd85845b2a
4:114276422 ANK2 C>G	4	114276422	114276422	C	G	ANK2	c.6648C>G	NM_001148.6	NP_001139.3:p.(Gly2216=)	NC_000004.11:g.114276422C>G	(Likely) benign	3 labs	cd87c263a3
12:133242049 POLE T>C	12	133242049	133242049	T	C	POLE	c.2320-13A>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133242049T>C	(Likely) benign	3 labs	cd924ff0dd
7:140481511 BRAF A>C	7	140481511	140481511	A	C	BRAF	c.1315-18T>G	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140481511A>C	(Likely) benign	2 labs	cd9517cd16
10:69959144 MYPN C>T	10	69959144	69959144	C	T	MYPN	c.3305C>T	NM_032578.4	NP_115967.2:p.(Pro1102Leu)	NC_000010.10:g.69959144C>T	VUS	2 labs	cda759d823
2:15674772 NBAS T>A	2	15674772	15674772	T	A	NBAS	c.648-7A>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15674772T>A	(Likely) benign	2 labs	cdb8e3b41d
X:10181902 CLCN4 G>A	X	10181902	10181902	G	A	CLCN4	c.1758G>A	NM_001830.4	NP_001821.2:p.(Val586=)	NC_000023.10:g.10181902G>A	(Likely) benign	2 labs	cdc22233ce
14:23874507 MYH6 G>T	14	23874507	23874507	G	T	MYH6	c.427C>A	NM_002471.4	NP_002462.2:p.(Arg143=)	NC_000014.8:g.23874507G>T	(Likely) benign	3 labs	cdc2636f82
16:67974251 LCAT G>A	16	67974251	67974251	G	A	LCAT	c.879C>T	NM_000229.2	NP_000220.1:p.(Pro293=)	NC_000016.9:g.67974251G>A	(Likely) benign	2 labs	cdc2ebb88e
5:80021325 MSH3 A>G	5	80021325	80021325	A	G	MSH3	c.1394A>G	NM_002439.5	NP_002430.3:p.(Tyr465Cys)	NC_000005.9:g.80021325A>G	VUS	3 labs	cdcadace0a
6:56426931 DST C>T	6	56426931	56426931	C	T	DST	c.7711+5G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56426931C>T	(Likely) benign	2 labs	cdcee52670
3:184071063 CLCN2 G>C	3	184071063	184071063	G	C	CLCN2	c.2003C>G	NM_004366.6	NP_004357.3:p.(Thr668Ser)	NC_000003.11:g.184071063G>C	(Likely) benign	2 labs	cdcee8c64a
21:44483043 CBS G>A	21	44483043	44483043	G	A	CBS	c.954+20C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44483043G>A	(Likely) benign	3 labs	cdd2326dcf
13:111114751 COL4A2 G>A	13	111114751	111114751	G	A	COL4A2	c.1776+20G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111114751G>A	(Likely) benign	2 labs	cdd3c0aa59
X:49455976 PAGE1 C>T	X	49455976	49455976	C	T	PAGE1	c.168G>A	NM_003785.4	NP_003776.2:p.(Gly56=)	NC_000023.10:g.49455976C>T	(Likely) benign	2 labs	cdd4f6e70b
15:48717596 FBN1 T>C	15	48717596	48717596	T	C	FBN1	c.7423A>G	NM_000138.5	NP_000129.3:p.(Ile2475Val)	NC_000015.9:g.48717596T>C	VUS	2 labs	cddbaca6e0
12:110234519 TRPV4 G>A	12	110234519	110234519	G	A	TRPV4	c.1153-10C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110234519G>A	(Likely) benign	2 labs	cddd599725
17:15162516 PMP22 G>A	17	15162516	15162516	G	A	PMP22	c.79-6C>T	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15162516G>A	(Likely) benign	3 labs	cddf132e9f
5:73200168 ARHGEF28 A>G	5	73200168	73200168	A	G	ARHGEF28	c.4114-15A>G	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73200168A>G	(Likely) benign	2 labs	cde15ace42
15:44855395 SPG11 T>C	15	44855395	44855395	T	C	SPG11	c.7256A>G	NM_025137.4	NP_079413.3:p.(Lys2419Arg)	NC_000015.9:g.44855395T>C	(Likely) benign	4 labs	cde9250f89
4:16002140 PROM1 G>T	4	16002140	16002140	G	T	PROM1	c.1557C>A	NM_006017.3	NP_006008.1:p.(Tyr519Ter)	NC_000004.11:g.16002140G>T	(Likely) pathogenic	2 labs	cded75bce8
16:67976888 LCAT CG>C	16	67976888	67976893	CG	C	LCAT	c.312-10del	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976893del	(Likely) benign	2 labs	cdf189bff5
17:6387557 PITPNM3 G>A	17	6387557	6387557	G	A	PITPNM3	c.330C>T	NM_031220.4	NP_112497.2:p.(Ile110=)	NC_000017.10:g.6387557G>A	(Likely) benign	2 labs	cdf7e37a24
11:19207865 CSRP3 G>C	11	19207865	19207865	G	C	CSRP3	c.312C>G	NM_003476.5	NP_003467.1:p.(Thr104=)	NC_000011.9:g.19207865G>C	(Likely) benign	4 labs	cdfc2e563b
11:10022545 SBF2 C>T	11	10022545	10022545	C	T	SBF2	c.777G>A	NM_030962.4	NP_112224.1:p.(Pro259=)	NC_000011.9:g.10022545C>T	VUS	2 labs	ce06514aed
3:53700400 CACNA1D G>A	3	53700400	53700400	G	A	CACNA1D	c.954G>A	NM_000720.4	NP_000711.1:p.(Ala318=)	NC_000003.11:g.53700400G>A	(Likely) benign	2 labs	ce06d75544
7:151483571 PRKAG2 C>T	7	151483571	151483571	C	T	PRKAG2	c.171G>A	NM_016203.4	NP_057287.2:p.(Lys57=)	NC_000007.13:g.151483571C>T	(Likely) benign	2 labs	ce09b4cfc5
18:28660313 DSC2 C>T	18	28660313	28660313	C	T	DSC2	c.1269G>A	NM_004949.5	NP_004940.1:p.(Leu423=)	NC_000018.9:g.28660313C>T	(Likely) benign	2 labs	ce0bd21122
10:95422883 PDE6C G>A	10	95422883	95422883	G	A	PDE6C	c.2466G>A	NM_006204.4	NP_006195.3:p.(Lys822=)	NC_000010.10:g.95422883G>A	(Likely) benign	2 labs	ce1718ecad
9:133759864 ABL1 G>A	9	133759864	133759864	G	A	ABL1	c.2187G>A	NM_005157.6	NP_005148.2:p.(Thr729=)	NC_000009.11:g.133759864G>A	(Likely) benign	2 labs	ce1c855fed
6:152621930 SYNE1 T>C	6	152621930	152621930	T	C	SYNE1	c.17542-14A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152621930T>C	(Likely) benign	2 labs	ce250b7938
12:25398211 KRAS T>C	12	25398211	25398211	T	C	KRAS	c.108A>G	NM_033360.4	NP_203524.1:p.(Ile36Met)	NC_000012.11:g.25398211T>C	(Likely) pathogenic	2 labs	ce30a065d8
10:69935231 MYPN G>A	10	69935231	69935231	G	A	MYPN	c.2703+13G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69935231G>A	(Likely) benign	2 labs	ce34aadccc
8:94817177 TMEM67 TA>T	8	94817177	94817187	TA	T	TMEM67	c.2439+81del	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94817187del	(Likely) benign	2 labs	ce36115e52
16:88782505 PIEZO1 G>A	16	88782505	88782505	G	A	PIEZO1	c.7152C>T	NM_001142864.4	NP_001136336.2:p.(Gly2384=)	NC_000016.9:g.88782505G>A	(Likely) benign	2 labs	ce3c32e476
12:21967618 ABCC9 C>T	12	21967618	21967618	C	T	ABCC9	c.4062G>A	NM_020297.4	NP_064693.2:p.(Ser1354=)	NC_000012.11:g.21967618C>T	(Likely) benign	4 labs	ce3eeb87f0
2:220494008 SLC4A3 C>T	2	220494008	220494008	C	T	SLC4A3	c.360C>T	NM_201574.3	NP_963868.3:p.(Ser120=)	NC_000002.11:g.220494008C>T	(Likely) benign	2 labs	ce48b629f9
16:23614911 PALB2 GAAGT>G	16	23614911	23614919	GAAGT	G	PALB2	c.3426_3429del	NM_024675.4	NP_078951.2:p.(Leu1142PhefsTer20)	NC_000016.9:g.23614916_23614919del	(Likely) pathogenic	3 labs	ce4f8a635a
11:108188266 ATM AT>A	11	108188266	108188279	AT	A	ATM	c.6347+31del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108188279del	(Likely) benign	2 labs	ce5be8a278
4:128842718 MFSD8 G>C	4	128842718	128842718	G	C	MFSD8	c.1311C>G	NM_152778.3	NP_689991.1:p.(Ser437=)	NC_000004.11:g.128842718G>C	(Likely) benign	2 labs	ce71bae521
2:179610845 TTN C>T	2	179610845	179610845	C	T	TTN	c.16282G>A	NM_133379.5	NP_596870.2:p.(Val5428Met)	NC_000002.11:g.179610845C>T	(Likely) benign	2 labs	ce771e6cbe
5:77330199 AP3B1 G>A	5	77330199	77330199	G	A	AP3B1	c.2733C>T	NM_001271769.2	NP_001258698.1:p.(Ala911=)	NC_000005.9:g.77330199G>A	(Likely) benign	3 labs	ce82c28d1c
X:66766497 AR G>A	X	66766497	66766497	G	A	AR	c.1509G>A	NM_000044.6	NP_000035.2:p.(Trp503Ter)	NC_000023.10:g.66766497G>A	(Likely) pathogenic	2 labs	ce861e40f9
10:71712697 COL13A1 G>A	10	71712697	71712697	G	A	COL13A1	c.2085G>A	NM_001130103.2	NP_001123575.1:p.(Ala695=)	NC_000010.10:g.71712697G>A	(Likely) benign	2 labs	ce899631c7
2:233349610 ECEL1 G>C	2	233349610	233349610	G	C	ECEL1	c.967-7C>G	NM_004826.4	NP_004817.2:p.?	NC_000002.11:g.233349610G>C	(Likely) benign	2 labs	ce8db56d86
8:61654847 CHD7 A>G	8	61654847	61654847	A	G	CHD7	c.856A>G	NM_017780.4	NP_060250.2:p.(Arg286Gly)	NC_000008.10:g.61654847A>G	(Likely) benign	3 labs	ce93213d2e
3:52486252 TNNC1 G>A	3	52486252	52486252	G	A	TNNC1	c.72C>T	NM_003280.3	NP_003271.1:p.(Phe24=)	NC_000003.11:g.52486252G>A	(Likely) benign	2 labs	ce96f4909d
12:122255537 SETD1B CGGAGGA>C	12	122255537	122255558	CGGAGGA	C	SETD1B	c.3255_3260del	NM_001353345.2	NP_001340274.1:p.(Glu1086_Glu1087del)	NC_000012.11:g.122255553_122255558del	(Likely) benign	2 labs	ce95b1f715
22:39627630 PDGFB G>C	22	39627630	39627630	G	C	PDGFB	c.453C>G	NM_002608.4	NP_002599.1:p.(Val151=)	NC_000022.10:g.39627630G>C	(Likely) benign	2 labs	ce9961d842
2:179469799 TTN C>T	2	179469799	179469799	C	T	TTN	c.54105G>A	NM_001267550.2	NP_001254479.2:p.(Ala18035=)	NC_000002.11:g.179469799C>T	(Likely) benign	3 labs	ceb5c962dd
16:57991285 CNGB1 C>A	16	57991285	57991285	C	A	CNGB1	c.838-4G>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57991285C>A	(Likely) benign	2 labs	ceb87cd859
1:156104736 LMNA G>C	1	156104736	156104736	G	C	LMNA	c.780G>C	NM_170707.4	NP_733821.1:p.(Lys260Asn)	NC_000001.10:g.156104736G>C	VUS	2 labs	cec4127ffc
18:6976071 LAMA1 G>A	18	6976071	6976071	G	A	LAMA1	c.6354C>T	NM_005559.4	NP_005550.2:p.(Val2118=)	NC_000018.9:g.6976071G>A	(Likely) benign	2 labs	cec5689ffb
16:15818141 MYH11 A>C	16	15818141	15818141	A	C	MYH11	c.4263T>G	NM_001040113.2	NP_001035202.1:p.(Ala1421=)	NC_000016.9:g.15818141A>C	(Likely) benign	3 labs	cedd3dee75
3:100447718 TFG A>G	3	100447718	100447718	A	G	TFG	c.415+16A>G	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100447718A>G	(Likely) benign	2 labs	cec841f879
1:94512602 ABCA4 C>T	1	94512602	94512602	C	T	ABCA4	c.2791G>A	NM_000350.3	NP_000341.2:p.(Val931Met)	NC_000001.10:g.94512602C>T	VUS	2 labs	cee66c569a
20:10622258 JAG1 G>A	20	10622258	10622258	G	A	JAG1	c.2766C>T	NM_000214.3	NP_000205.1:p.(Asp922=)	NC_000020.10:g.10622258G>A	(Likely) benign	3 labs	cef28b38ab
1:10292406 KIF1B A>T	1	10292406	10292406	A	T	KIF1B	c.20A>T	NM_015074.3	NP_055889.2:p.(Lys7Met)	NC_000001.10:g.10292406A>T	VUS	3 labs	cefa5916dc
3:38651301 SCN5A C>T	3	38651301	38651301	C	T	SCN5A	c.858G>A	NM_198056.3	NP_932173.1:p.(Ala286=)	NC_000003.11:g.38651301C>T	(Likely) benign	2 labs	cf008297fb
5:127873214 FBN2 C>T	5	127873214	127873214	C	T	FBN2	c.83G>A	NM_001999.4	NP_001990.2:p.(Gly28Asp)	NC_000005.9:g.127873214C>T	VUS	2 labs	cf02262471
2:73786084 ALMS1 A>AT	2	73786084	73786087	A	AT	ALMS1	c.10217-12dup	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73786087dup	(Likely) benign	2 labs	cf0b04dc35
3:53796092 CACNA1D C>T	3	53796092	53796092	C	T	CACNA1D	c.3914C>T	NM_000720.4	NP_000711.1:p.(Ala1305Val)	NC_000003.11:g.53796092C>T	(Likely) benign	2 labs	cf0eca8fb1
12:1009854 WNK1 A>G	12	1009854	1009854	A	G	WNK1	c.7423+18A>G	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.1009854A>G	(Likely) benign	2 labs	cf1f28b13a
3:183493743 YEATS2 CGGA>C	3	183493743	183493772	CGGA	C	YEATS2	c.2436_2438del	NM_018023.5	NP_060493.3:p.(Gly814del)	NC_000003.11:g.183493770_183493772del	(Likely) benign	2 labs	cf219945a3
13:32913469 BRCA2 C>T	13	32913469	32913469	C	T	BRCA2	c.4977C>T	NM_000059.4	NP_000050.3:p.(Ser1659=)	NC_000013.10:g.32913469C>T	(Likely) benign	4 labs	cf2254b3a2
5:95728898 PCSK1 C>G	5	95728898	95728898	C	G	PCSK1	c.2069G>C	NM_000439.5	NP_000430.3:p.(Ser690Thr)	NC_000005.9:g.95728898C>G	(Likely) benign	2 labs	cf27367006
1:3319570 PRDM16 GCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTA>G	1	3319570	3319631	GCCCTCCTCTGAGTCTTCCTCCCCTTCCCGTA	G	PRDM16	c.884+39_884+69del	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319601_3319631del	(Likely) benign	2 labs	cf2b6680a7
X:153296244 MECP2 T>C	X	153296244	153296244	T	C	MECP2	c.756A>G	NM_001369391.2	NP_001356320.1:p.(Lys252=)	NC_000023.10:g.153296244T>C	(Likely) benign	4 labs	cf350c2332
14:23898214 MYH7 G>A	14	23898214	23898214	G	A	MYH7	c.1357C>T	NM_000257.4	NP_000248.2:p.(Arg453Cys)	NC_000014.8:g.23898214G>A	(Likely) pathogenic	4 labs	cf433402d2
21:47409531 COL6A1 G>A	21	47409531	47409531	G	A	COL6A1	c.868G>A	NM_001848.3	NP_001839.2:p.(Gly290Arg)	NC_000021.8:g.47409531G>A	(Likely) pathogenic	2 labs	cf4729e0cf
13:32913910 BRCA2 A>G	13	32913910	32913910	A	G	BRCA2	c.5418A>G	NM_000059.4	NP_000050.3:p.(Glu1806=)	NC_000013.10:g.32913910A>G	(Likely) benign	6 labs	cf520e1965
2:16080813 MYCN A>C	2	16080813	16080813	A	C	MYCN	c.105A>C	NM_001293233.2	NP_001280162.1:p.(Pro35=)	NC_000002.11:g.16080813A>C	(Likely) benign	2 labs	cf57848394
14:23902341 MYH7 G>A	14	23902341	23902341	G	A	MYH7	c.297C>T	NM_000257.4	NP_000248.2:p.(Pro99=)	NC_000014.8:g.23902341G>A	(Likely) benign	3 labs	cf743edc60
19:15295806 NOTCH3 G>C	19	15295806	15295806	G	C	NOTCH3	c.2321C>G	NM_000435.3	NP_000426.2:p.(Pro774Arg)	NC_000019.9:g.15295806G>C	(Likely) benign	2 labs	cf7821a08e
7:33217071 BBS9 CT>C	7	33217071	33217083	CT	C	BBS9	c.329-7del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217083del	(Likely) benign	3 labs	cf7c88fa85
8:133910461 TG C>A	8	133910461	133910461	C	A	TG	c.3187C>A	NM_003235.5	NP_003226.4:p.(Leu1063Met)	NC_000008.10:g.133910461C>A	(Likely) benign	2 labs	cf7e51c201
1:65845076 DNAJC6 C>T	1	65845076	65845076	C	T	DNAJC6	c.544-9C>T	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65845076C>T	(Likely) benign	2 labs	cf7f50ed52
3:38938538 SCN11A T>C	3	38938538	38938538	T	C	SCN11A	c.2201A>G	NM_001349253.2	NP_001336182.1:p.(Lys734Arg)	NC_000003.11:g.38938538T>C	(Likely) benign	2 labs	cf80990284
3:38649686 SCN5A G>A	3	38649686	38649686	G	A	SCN5A	c.954C>T	NM_001099404.2	NP_001092874.1:p.(Asn318=)	NC_000003.11:g.38649686G>A	(Likely) benign	3 labs	cf831ae73b
2:189916190 COL5A2 C>T	2	189916190	189916190	C	T	COL5A2	c.2787G>A	NM_000393.5	NP_000384.2:p.(Ala929=)	NC_000002.11:g.189916190C>T	(Likely) benign	2 labs	cf84c216fa
9:139417612 NOTCH1 G>A	9	139417612	139417612	G	A	NOTCH1	c.432C>T	NM_017617.5	NP_060087.3:p.(Cys144=)	NC_000009.11:g.139417612G>A	(Likely) benign	2 labs	cf84d67208
5:179263548 SQSTM1 G>A	5	179263548	179263548	G	A	SQSTM1	c.1278G>A	NM_003900.5	NP_003891.1:p.(Ala426=)	NC_000005.9:g.179263548G>A	(Likely) benign	2 labs	cf87e35cfc
11:47434984 SLC39A13 G>A	11	47434984	47434984	G	A	SLC39A13	c.571G>A	NM_001128225.3	NP_001121697.2:p.(Ala191Thr)	NC_000011.9:g.47434984G>A	(Likely) benign	2 labs	cf93a588e4
1:201334772 TNNT2 G>A	1	201334772	201334772	G	A	TNNT2	c.230C>T	NM_001276347.2	NP_001263276.1:p.(Pro77Leu)	NC_000001.10:g.201334772G>A	VUS	2 labs	cfa0abfbb4
15:63356318 TPM1 C>T	15	63356318	63356318	C	T	TPM1	c.720C>T	NM_001365781.2	NP_001352710.1:p.(His240=)	NC_000015.9:g.63356318C>T	(Likely) benign	2 labs	cfb0870057
1:17380497 SDHB G>T	1	17380497	17380497	G	T	SDHB	c.18C>A	NM_003000.3	NP_002991.2:p.(Ala6=)	NC_000001.10:g.17380497G>T	(Likely) benign	4 labs	cfc4fda178
2:179398605 TTN C>T	2	179398605	179398605	C	T	TTN	c.102737G>A	NM_001267550.2	NP_001254479.2:p.(Arg34246His)	NC_000002.11:g.179398605C>T	(Likely) benign	3 labs	cfcbca3a2e
19:38996990 RYR1 T>C	19	38996990	38996990	T	C	RYR1	c.8589T>C	NM_000540.3	NP_000531.2:p.(Ser2863=)	NC_000019.9:g.38996990T>C	(Likely) benign	2 labs	cfd1ffb177
X:32459402 DMD C>G	X	32459402	32459402	C	G	DMD	c.3447G>C	NM_004010.3	NP_004001.1:p.(Leu1149Phe)	NC_000023.10:g.32459402C>G	(Likely) benign	3 labs	cfd7bb9a72
2:179462290 TTN C>A	2	179462290	179462290	C	A	TTN	c.49815G>T	NM_133378.4	NP_596869.4:p.(Lys16605Asn)	NC_000002.11:g.179462290C>A	VUS	2 labs	cfdf2d2651
16:86601376 FOXC2 C>T	16	86601376	86601376	C	T	FOXC2	c.435C>T	NM_005251.3	NP_005242.1:p.(Tyr145=)	NC_000016.9:g.86601376C>T	(Likely) benign	2 labs	cfed33c38e
6:123599505 TRDN A>C	6	123599505	123599505	A	C	TRDN	c.1538-13T>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123599505A>C	(Likely) benign	2 labs	cff01028ef
2:238258814 COL6A3 C>G	2	238258814	238258814	C	G	COL6A3	c.6855G>C	NM_004369.4	NP_004360.2:p.(Gly2285=)	NC_000002.11:g.238258814C>G	(Likely) benign	4 labs	cff359e0d4
16:67976673 LCAT T>C	16	67976673	67976673	T	C	LCAT	c.428-4A>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976673T>C	(Likely) benign	2 labs	d0081a728d
19:2115313 AP3D1 T>C	19	2115313	2115313	T	C	AP3D1	c.2254A>G	NM_001261826.3	NP_001248755.1:p.(Lys752Glu)	NC_000019.9:g.2115313T>C	(Likely) benign	2 labs	d00bc0063e
9:135203530 SETX A>C	9	135203530	135203530	A	C	SETX	c.3455T>G	NM_015046.7	NP_055861.3:p.(Phe1152Cys)	NC_000009.11:g.135203530A>C	(Likely) benign	4 labs	d01655d6a0
3:48508793 TREX1 G>C	3	48508793	48508793	G	C	TREX1	c.739G>C	NM_033629.6	NP_338599.1:p.(Ala247Pro)	NC_000003.11:g.48508793G>C	VUS	4 labs	d0191e7ebb
2:238243369 COL6A3 G>A	2	238243369	238243369	G	A	COL6A3	c.9129C>T	NM_004369.4	NP_004360.2:p.(Arg3043=)	NC_000002.11:g.238243369G>A	(Likely) benign	3 labs	d01a715827
2:179474046 TTN C>G	2	179474046	179474046	C	G	TTN	c.51991G>C	NM_001267550.2	NP_001254479.2:p.(Glu17331Gln)	NC_000002.11:g.179474046C>G	(Likely) benign	2 labs	d01be85151
1:3745857 CEP104 T>C	1	3745857	3745857	T	C	CEP104	c.2124A>G	NM_014704.4	NP_055519.1:p.(Ala708=)	NC_000001.10:g.3745857T>C	(Likely) benign	3 labs	d01bef7338
8:10469559 RP1L1 G>A	8	10469559	10469559	G	A	RP1L1	c.2049C>T	NM_178857.6	NP_849188.4:p.(Thr683=)	NC_000008.10:g.10469559G>A	(Likely) benign	2 labs	d01c16e3f2
13:52539149 ATP7B C>T	13	52539149	52539149	C	T	ATP7B	c.1728G>A	NM_000053.4	NP_000044.2:p.(Ala576=)	NC_000013.10:g.52539149C>T	(Likely) benign	2 labs	d027a4e47f
7:153750140 DPP6 G>A	7	153750140	153750140	G	A	DPP6	c.235G>A	NM_130797.4	NP_570629.2:p.(Glu79Lys)	NC_000007.13:g.153750140G>A	(Likely) benign	2 labs	d02d170102
10:90771765 FAS A>G	10	90771765	90771765	A	G	FAS	c.578A>G	NM_000043.6	NP_000034.1:p.(Lys193Arg)	NC_000010.10:g.90771765A>G	(Likely) benign	3 labs	d02d7cda79
6:64488060 EYS A>G	6	64488060	64488060	A	G	EYS	c.7737T>C	NM_001292009.2	NP_001278938.1:p.(Thr2579=)	NC_000006.11:g.64488060A>G	(Likely) benign	2 labs	d02ff95016
1:12064941 MFN2 G>A	1	12064941	12064941	G	A	MFN2	c.1452G>A	NM_014874.4	NP_055689.1:p.(Thr484=)	NC_000001.10:g.12064941G>A	(Likely) benign	3 labs	d038e17a82
2:74593944 DCTN1 G>C	2	74593944	74593944	G	C	DCTN1	c.2432C>G	NM_004082.5	NP_004073.2:p.(Pro811Arg)	NC_000002.11:g.74593944G>C	(Likely) benign	2 labs	d039e921f4
11:22646398 FANCF G>A	11	22646398	22646398	G	A	FANCF	c.959C>T	NM_022725.4	NP_073562.1:p.(Pro320Leu)	NC_000011.9:g.22646398G>A	(Likely) benign	2 labs	d045112e78
2:179489418 TTN C>T	2	179489418	179489418	C	T	TTN	c.44589G>A	NM_001267550.2	NP_001254479.2:p.(Thr14863=)	NC_000002.11:g.179489418C>T	(Likely) benign	2 labs	d04827d6aa
1:10421089 KIF1B G>A	1	10421089	10421089	G	A	KIF1B	c.4158G>A	NM_001365951.3	NP_001352880.1:p.(Ser1386=)	NC_000001.10:g.10421089G>A	(Likely) benign	3 labs	d04ecc51b9
11:108151836 ATM T>C	11	108151836	108151836	T	C	ATM	c.3517T>C	NM_000051.4	NP_000042.3:p.(Leu1173=)	NC_000011.9:g.108151836T>C	(Likely) benign	5 labs	d0604c7e29
4:185340725 IRF2 GAAA>G	4	185340725	185340745	GAAA	G	IRF2	c.88-6_88-4del	NM_002199.4	NP_002190.2:p.?	NC_000004.11:g.185340743_185340745del	(Likely) benign	2 labs	d0643b0ce1
10:112581293 RBM20 G>A	10	112581293	112581293	G	A	RBM20	c.2916G>A	NM_001134363.3	NP_001127835.2:p.(Gly972=)	NC_000010.10:g.112581293G>A	(Likely) benign	4 labs	d068e503cd
22:29130630 CHEK2 TGG>T	22	29130630	29130633	TGG	T	CHEK2	c.78_79del	NM_007194.4	NP_009125.1:p.(Gln27ValfsTer49)	NC_000022.10:g.29130632_29130633del	(Likely) pathogenic	2 labs	d06bd3ef16
9:137642654 COL5A1 G>A	9	137642654	137642654	G	A	COL5A1	c.1588G>A	NM_000093.5	NP_000084.3:p.(Gly530Ser)	NC_000009.11:g.137642654G>A	(Likely) benign	3 labs	d073bff383
5:149450132 CSF1R T>C	5	149450132	149450132	T	C	CSF1R	c.1085A>G	NM_001375320.1	NP_001362249.1:p.(His362Arg)	NC_000005.9:g.149450132T>C	(Likely) benign	2 labs	d07463f1a0
14:100801384 WARS1 G>A	14	100801384	100801384	G	A	WARS1	c.1255-11C>T	NM_004184.4	NP_004175.2:p.?	NC_000014.8:g.100801384G>A	(Likely) benign	2 labs	d076cd06a9
11:117278695 CEP164 C>T	11	117278695	117278695	C	T	CEP164	c.3556C>T	NM_014956.5	NP_055771.4:p.(Leu1186=)	NC_000011.9:g.117278695C>T	(Likely) benign	2 labs	d07896ec6a
14:102508056 DYNC1H1 C>A	14	102508056	102508056	C	A	DYNC1H1	c.12087C>A	NM_001376.5	NP_001367.2:p.(His4029Gln)	NC_000014.8:g.102508056C>A	(Likely) benign	3 labs	d08547ee4f
11:27695785 BDNF A>G	11	27695785	27695785	A	G	BDNF	c.47T>C	NM_001143810.2	NP_001137282.1:p.(Leu16Pro)	NC_000011.9:g.27695785A>G	(Likely) benign	2 labs	d085fbe9d7
9:135801087 TSC1 C>T	9	135801087	135801087	C	T	TSC1	c.250G>A	NM_000368.5	NP_000359.1:p.(Ala84Thr)	NC_000009.11:g.135801087C>T	(Likely) benign	2 labs	d09d0a4707
12:121176083 ACADS G>A	12	121176083	121176083	G	A	ACADS	c.625G>A	NM_000017.4	NP_000008.1:p.(Gly209Ser)	NC_000012.11:g.121176083G>A	(Likely) benign	2 labs	d0976000de
1:216243634 USH2A G>C	1	216243634	216243634	G	C	USH2A	c.5858C>G	NM_206933.4	NP_996816.3:p.(Ala1953Gly)	NC_000001.10:g.216243634G>C	VUS	4 labs	d09905cbfc
13:32893387 BRCA2 T>A	13	32893387	32893387	T	A	BRCA2	c.241T>A	NM_000059.4	NP_000050.3:p.(Phe81Ile)	NC_000013.10:g.32893387T>A	(Likely) benign	3 labs	d09f42d133
10:121432053 BAG3 C>T	10	121432053	121432053	C	T	BAG3	c.794C>T	NM_004281.4	NP_004272.2:p.(Pro265Leu)	NC_000010.10:g.121432053C>T	VUS	2 labs	d0aaf56900
11:66297299 BBS1 G>A	11	66297299	66297299	G	A	BBS1	c.1349G>A	NM_024649.5	NP_078925.3:p.(Arg450Gln)	NC_000011.9:g.66297299G>A	(Likely) benign	2 labs	d0ad905cca
10:71149024 HK1 G>A	10	71149024	71149024	G	A	HK1	c.1971G>A	NM_033500.2	NP_277035.2:p.(Glu657=)	NC_000010.10:g.71149024G>A	(Likely) benign	3 labs	d0b9ca20e8
9:135140020 SETX A>G	9	135140020	135140020	A	G	SETX	c.7640T>C	NM_015046.7	NP_055861.3:p.(Ile2547Thr)	NC_000009.11:g.135140020A>G	(Likely) benign	3 labs	d0c80e1278
X:130416480 IGSF1 A>C	X	130416480	130416480	A	C	IGSF1	c.1184T>G	NM_001170961.2	NP_001164432.1:p.(Leu395Arg)	NC_000023.10:g.130416480A>C	(Likely) benign	2 labs	d0dbd7fd35
1:156085038 LMNA G>A	1	156085038	156085038	G	A	LMNA	c.329G>A	NM_170707.4	NP_733821.1:p.(Arg110His)	NC_000001.10:g.156085038G>A	VUS	2 labs	d0d3294d87
2:74592261 DCTN1 T>C	2	74592261	74592261	T	C	DCTN1	c.3137A>G	NM_004082.5	NP_004073.2:p.(Glu1046Gly)	NC_000002.11:g.74592261T>C	VUS	2 labs	d0d9fe62d1
16:1411903 GNPTG C>T	16	1411903	1411903	C	T	GNPTG	c.264C>T	NM_032520.5	NP_115909.1:p.(Asn88=)	NC_000016.9:g.1411903C>T	(Likely) benign	2 labs	d0ddb148f5
4:120057709 MYOZ2 A>C	4	120057709	120057709	A	C	MYOZ2	c.29A>C	NM_016599.5	NP_057683.1:p.(Gln10Pro)	NC_000004.11:g.120057709A>C	(Likely) benign	3 labs	d0e088c874
6:7581172 DSP C>T	6	7581172	7581172	C	T	DSP	c.4749C>T	NM_004415.4	NP_004406.2:p.(Thr1583=)	NC_000006.11:g.7581172C>T	(Likely) benign	2 labs	d0eb0e59d2
3:38647544 SCN5A G>A	3	38647544	38647544	G	A	SCN5A	c.1236C>T	NM_198056.3	NP_932173.1:p.(Val412=)	NC_000003.11:g.38647544G>A	(Likely) benign	3 labs	d0eba477f9
1:213031948 FLVCR1 G>C	1	213031948	213031948	G	C	FLVCR1	c.154G>C	NM_014053.4	NP_054772.1:p.(Ala52Pro)	NC_000001.10:g.213031948G>C	(Likely) benign	4 labs	d0f383942e
7:92147192 PEX1 G>A	7	92147192	92147192	G	A	PEX1	c.13C>T	NM_001282678.2	NP_001269607.1:p.(Leu5Phe)	NC_000007.13:g.92147192G>A	(Likely) benign	3 labs	d0fc76bdf7
6:161781225 PRKN C>T	6	161781225	161781225	C	T	PRKN	c.1180G>A	NM_004562.3	NP_004553.2:p.(Asp394Asn)	NC_000006.11:g.161781225C>T	(Likely) benign	2 labs	d1092c6a96
14:23902753 MYH7 G>A	14	23902753	23902753	G	A	MYH7	c.189C>T	NM_000257.4	NP_000248.2:p.(Thr63=)	NC_000014.8:g.23902753G>A	(Likely) benign	5 labs	d11d155e41
15:44912616 SPG11 A>C	15	44912616	44912616	A	C	SPG11	c.2621-15T>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44912616A>C	(Likely) benign	2 labs	d12fc6c36d
13:32914973 BRCA2 GACAA>G	13	32914973	32914981	GACAA	G	BRCA2	c.6486_6489del	NM_000059.4	NP_000050.3:p.(Lys2162AsnfsTer5)	NC_000013.10:g.32914978_32914981del	(Likely) pathogenic	2 labs	d131a7e32e
3:38663875 SCN5A C>G	3	38663875	38663875	C	G	SCN5A	c.482+16G>C	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38663875C>G	(Likely) benign	3 labs	d1321805ff
10:61994479 ANK3 G>A	10	61994479	61994479	G	A	ANK3	c.864C>T	NM_020987.5	NP_066267.2:p.(Leu288=)	NC_000010.10:g.61994479G>A	(Likely) benign	2 labs	d134c2dada
2:238280823 COL6A3 G>T	2	238280823	238280823	G	T	COL6A3	c.3837C>A	NM_004369.4	NP_004360.2:p.(Asp1279Glu)	NC_000002.11:g.238280823G>T	VUS	3 labs	d13e9272c5
12:48369809 COL2A1 A>G	12	48369809	48369809	A	G	COL2A1	c.3534T>C	NM_001844.5	NP_001835.3:p.(Asn1178=)	NC_000012.11:g.48369809A>G	(Likely) benign	2 labs	d158a3daf6
1:237038008 MTR T>A	1	237038008	237038008	T	A	MTR	c.2474-18T>A	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038008T>A	(Likely) benign	2 labs	d164f6255e
19:12920935 RNASEH2A G>A	19	12920935	12920935	G	A	RNASEH2A	c.462G>A	NM_006397.3	NP_006388.2:p.(Gln154=)	NC_000019.9:g.12920935G>A	(Likely) benign	3 labs	d169c67a51
17:33443915 RAD51D C>T	17	33443915	33443915	C	T	RAD51D	c.286G>A	NM_001142571.2	NP_001136043.1:p.(Ala96Thr)	NC_000017.10:g.33443915C>T	(Likely) benign	5 labs	d1748f6e34
X:139586623 SOX3 C>T	X	139586623	139586623	C	T	SOX3	c.603G>A	NM_005634.3	NP_005625.2:p.(Lys201=)	NC_000023.10:g.139586623C>T	(Likely) benign	2 labs	d1732cc54f
18:45395686 SMAD2 C>T	18	45395686	45395686	C	T	SMAD2	c.448G>A	NM_005901.6	NP_005892.1:p.(Glu150Lys)	NC_000018.9:g.45395686C>T	VUS	2 labs	d19857106b
11:89017960 TYR C>T	11	89017960	89017960	C	T	TYR	c.1204C>T	NM_000372.5	NP_000363.1:p.(Arg402Ter)	NC_000011.9:g.89017960C>T	(Likely) pathogenic	2 labs	d18bf73b70
6:16327864 ATXN1 G>GTGCTGC	6	16327864	16327908	G	GTGCTGC	ATXN1	c.672_677dup	NM_000332.3	NP_000323.2:p.(Gln224_Gln225dup)	NC_000006.11:g.16327903_16327908dup	(Likely) benign	3 labs	d193daaabe
X:25022961 ARX T>C	X	25022961	25022961	T	C	ARX	c.1515A>G	NM_139058.3	NP_620689.1:p.(Thr505=)	NC_000023.10:g.25022961T>C	(Likely) benign	3 labs	d19a64b58d
12:109604776 ACACB G>T	12	109604776	109604776	G	T	ACACB	c.764G>T	NM_001093.4	NP_001084.3:p.(Gly255Val)	NC_000012.11:g.109604776G>T	VUS	2 labs	d1a1537f6c
17:6377882 PITPNM3 C>T	17	6377882	6377882	C	T	PITPNM3	c.1128G>A	NM_031220.4	NP_112497.2:p.(Ala376=)	NC_000017.10:g.6377882C>T	(Likely) benign	2 labs	d1ae2e3ee7
1:94495021 ABCA4 C>A	1	94495021	94495021	C	A	ABCA4	c.4519G>T	NM_000350.3	NP_000341.2:p.(Gly1507Trp)	NC_000001.10:g.94495021C>A	VUS	2 labs	d1af169c26
9:139397728 NOTCH1 C>T	9	139397728	139397728	C	T	NOTCH1	c.5073G>A	NM_017617.5	NP_060087.3:p.(Gln1691=)	NC_000009.11:g.139397728C>T	(Likely) benign	3 labs	d1b2cdac91
17:41256275 BRCA1 G>C	17	41256275	41256275	G	C	BRCA1	c.305C>G	NM_007294.4	NP_009225.1:p.(Ala102Gly)	NC_000017.10:g.41256275G>C	(Likely) benign	2 labs	d1baabe6f1
11:31815619 PAX6 T>C	11	31815619	31815619	T	C	PAX6	c.719=	NM_000280.5	NP_000271.1:p.(Arg240=)	NC_000011.9:g.31815619T>C	(Likely) benign	2 labs	d1c232d774
6:7559443 DSP G>GT	6	7559443	7559450	G	GT	DSP	c.423-9dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559450dup	(Likely) benign	2 labs	d1c7a545d3
1:237934087 RYR2 T>A	1	237934087	237934087	T	A	RYR2	c.11477-20T>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237934087T>A	(Likely) benign	2 labs	d1cfee9be9
2:179430876 TTN G>A	2	179430876	179430876	G	A	TTN	c.72279C>T	NM_133378.4	NP_596869.4:p.(Tyr24093=)	NC_000002.11:g.179430876G>A	(Likely) benign	2 labs	d1d64715bf
14:23853924 MYH6 G>A	14	23853924	23853924	G	A	MYH6	c.5292C>T	NM_002471.4	NP_002462.2:p.(Ala1764=)	NC_000014.8:g.23853924G>A	(Likely) benign	4 labs	d1d6faa3af
12:33031089 PKP2 G>A	12	33031089	33031089	G	A	PKP2	c.725C>T	NM_004572.4	NP_004563.2:p.(Thr242Met)	NC_000012.11:g.33031089G>A	(Likely) benign	2 labs	d1e3b5b779
17:45822633 TBX21 C>T	17	45822633	45822633	C	T	TBX21	c.1509C>T	NM_013351.2	NP_037483.1:p.(Ser503=)	NC_000017.10:g.45822633C>T	(Likely) benign	2 labs	d1e59333fb
5:127666299 FBN2 G>A	5	127666299	127666299	G	A	FBN2	c.4311C>T	NM_001999.4	NP_001990.2:p.(Ser1437=)	NC_000005.9:g.127666299G>A	(Likely) benign	2 labs	d1e5fa6492
9:137713948 COL5A1 C>T	9	137713948	137713948	C	T	COL5A1	c.4560C>T	NM_000093.5	NP_000084.3:p.(Ile1520=)	NC_000009.11:g.137713948C>T	(Likely) benign	3 labs	d1ec65e666
14:23855701 MYH6 C>T	14	23855701	23855701	C	T	MYH6	c.4782G>A	NM_002471.4	NP_002462.2:p.(Arg1594=)	NC_000014.8:g.23855701C>T	(Likely) benign	3 labs	d1fa3d00e6
2:179423252 TTN G>A	2	179423252	179423252	G	A	TTN	c.86934C>T	NM_001267550.2	NP_001254479.2:p.(Val28978=)	NC_000002.11:g.179423252G>A	(Likely) benign	5 labs	d1fdafe791
6:110048477 FIG4 G>A	6	110048477	110048477	G	A	FIG4	c.446+9G>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110048477G>A	(Likely) benign	3 labs	d207c9f4da
17:39911975 JUP G>T	17	39911975	39911975	G	T	JUP	c.*14+7C>A	NM_001352774.2	NP_001339703.1:p.?	NC_000017.10:g.39911975G>T	(Likely) benign	4 labs	d21d29d8e7
17:41244686 BRCA1 T>C	17	41244686	41244686	T	C	BRCA1	c.2862A>G	NM_007294.4	NP_009225.1:p.(Leu954=)	NC_000017.10:g.41244686T>C	(Likely) benign	2 labs	d224e4ee04
19:1912671 ADAT3 CGGGCCGTGG>C	19	1912671	1912689	CGGGCCGTGG	C	ADAT3	c.635_643del	NM_138422.4	NP_612431.2:p.(Gly212_Val214del)	NC_000019.9:g.1912681_1912689del	VUS	2 labs	d223a8af43
5:38527236 LIFR AGTTT>A	5	38527236	38527244	AGTTT	A	LIFR	c.397+17_397+20del	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38527241_38527244del	(Likely) benign	2 labs	d22d2f606c
4:15972698 PROM1 G>A	4	15972698	15972698	G	A	PROM1	c.2563C>T	NM_001145847.2	NP_001139319.1:p.(Gln855Ter)	NC_000004.11:g.15972698G>A	VUS	2 labs	d2344853a8
5:7892937 MTRR A>G	5	7892937	7892937	A	G	MTRR	c.1468A>G	NM_002454.3	NP_002445.2:p.(Thr490Ala)	NC_000005.9:g.7892937A>G	(Likely) benign	2 labs	d24ff187d1
9:103009002 INVS C>T	9	103009002	103009002	C	T	INVS	c.723C>T	NM_001318381.2	NP_001305310.1:p.(Val241=)	NC_000009.11:g.103009002C>T	(Likely) benign	2 labs	d259dc6f87
10:12123525 DHTKD1 C>G	10	12123525	12123525	C	G	DHTKD1	c.209C>G	NM_018706.7	NP_061176.4:p.(Ala70Gly)	NC_000010.10:g.12123525C>G	(Likely) benign	2 labs	d25c6443d8
2:189855040 COL3A1 A>G	2	189855040	189855040	A	G	COL3A1	c.752A>G	NM_000090.4	NP_000081.2:p.(Lys251Arg)	NC_000002.11:g.189855040A>G	VUS	2 labs	d26b963891
6:112441505 LAMA4 T>C	6	112441505	112441505	T	C	LAMA4	c.4646A>G	NM_001105206.3	NP_001098676.2:p.(Asn1549Ser)	NC_000006.11:g.112441505T>C	(Likely) benign	4 labs	d26f170b9f
16:8941654 PMM2 G>A	16	8941654	8941654	G	A	PMM2	c.713G>A	NM_000303.3	NP_000294.1:p.(Arg238His)	NC_000016.9:g.8941654G>A	VUS	4 labs	d26feeaf1b
20:61981410 CHRNA4 C>T	20	61981410	61981410	C	T	CHRNA4	c.1353G>A	NM_000744.7	NP_000735.1:p.(Pro451=)	NC_000020.10:g.61981410C>T	(Likely) benign	2 labs	d273ed4bab
16:88498350 ZNF469 C>T	16	88498350	88498350	C	T	ZNF469	c.4472C>T	NM_001367624.2	NP_001354553.1:p.(Thr1491Met)	NC_000016.9:g.88498350C>T	(Likely) benign	2 labs	d27548e941
6:66054051 EYS G>A	6	66054051	66054051	G	A	EYS	c.1479C>T	NM_001292009.2	NP_001278938.1:p.(Cys493=)	NC_000006.11:g.66054051G>A	(Likely) benign	3 labs	d27f35e036
2:179582536 TTN C>T	2	179582536	179582536	C	T	TTN	c.25065G>A	NM_001267550.2	NP_001254479.2:p.(Ala8355=)	NC_000002.11:g.179582536C>T	(Likely) benign	2 labs	d2818d3575
3:53781458 CACNA1D G>A	3	53781458	53781458	G	A	CACNA1D	c.3357G>A	NM_000720.4	NP_000711.1:p.(Thr1119=)	NC_000003.11:g.53781458G>A	(Likely) benign	2 labs	d2871a42ad
2:44051125 ABCG5 C>T	2	44051125	44051125	C	T	ABCG5	c.1251G>A	NM_022436.3	NP_071881.1:p.(Gln417=)	NC_000002.11:g.44051125C>T	(Likely) benign	2 labs	d288ca885a
2:179447848 TTN T>C	2	179447848	179447848	T	C	TTN	c.65682A>G	NM_001267550.2	NP_001254479.2:p.(Thr21894=)	NC_000002.11:g.179447848T>C	(Likely) benign	2 labs	d29ad88f8d
2:179632496 TTN T>C	2	179632496	179632496	T	C	TTN	c.9461A>G	NM_001267550.2	NP_001254479.2:p.(Lys3154Arg)	NC_000002.11:g.179632496T>C	(Likely) benign	4 labs	d29be0afd8
10:88439866 LDB3 G>A	10	88439866	88439866	G	A	LDB3	c.273G>A	NM_001171610.2	NP_001165081.1:p.(Thr91=)	NC_000010.10:g.88439866G>A	(Likely) benign	2 labs	d2a5a6244c
16:72137681 DHX38 C>T	16	72137681	72137681	C	T	DHX38	c.1818C>T	NM_014003.4	NP_054722.2:p.(Gly606=)	NC_000016.9:g.72137681C>T	(Likely) benign	2 labs	d2ad2df2f2
6:100061375 PRDM13 C>T	6	100061375	100061375	C	T	PRDM13	c.864C>T	NM_021620.4	NP_067633.2:p.(Tyr288=)	NC_000006.11:g.100061375C>T	(Likely) benign	2 labs	d2c2068521
12:48391968 COL2A1 G>C	12	48391968	48391968	G	C	COL2A1	c.326C>G	NM_001844.5	NP_001835.3:p.(Pro109Arg)	NC_000012.11:g.48391968G>C	(Likely) benign	2 labs	d2ade03ebd
1:235915426 LYST T>C	1	235915426	235915426	T	C	LYST	c.7506A>G	NM_001301365.1	NP_001288294.1:p.(Gln2502=)	NC_000001.10:g.235915426T>C	(Likely) benign	3 labs	d2ae6638cf
5:112177694 APC A>G	5	112177694	112177694	A	G	APC	c.6403A>G	NM_000038.6	NP_000029.2:p.(Ile2135Val)	NC_000005.9:g.112177694A>G	(Likely) benign	5 labs	d2c8865f98
4:114279806 ANK2 A>G	4	114279806	114279806	A	G	ANK2	c.10032A>G	NM_001148.6	NP_001139.3:p.(Pro3344=)	NC_000004.11:g.114279806A>G	(Likely) benign	2 labs	d2ceca0f03
7:81603871 CACNA2D1 G>GA	7	81603871	81603880	G	GA	CACNA2D1	c.1956-4dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81603880dup	(Likely) benign	2 labs	d2cf262700
15:63351757 TPM1 T>C	15	63351757	63351757	T	C	TPM1	c.375-5T>C	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63351757T>C	(Likely) benign	2 labs	d2cfde9bef
1:5934657 NPHP4 C>T	1	5934657	5934657	C	T	NPHP4	c.3105G>A	NM_015102.5	NP_055917.1:p.(Pro1035=)	NC_000001.10:g.5934657C>T	(Likely) benign	2 labs	d2d18ed16a
11:66291278 BBS1 C>T	11	66291278	66291278	C	T	BBS1	c.1035C>T	NM_024649.5	NP_078925.3:p.(Ala345=)	NC_000011.9:g.66291278C>T	(Likely) benign	2 labs	d2d3d27e70
1:12058853 MFN2 T>A	1	12058853	12058853	T	A	MFN2	c.626T>A	NM_014874.4	NP_055689.1:p.(Leu209Gln)	NC_000001.10:g.12058853T>A	VUS	2 labs	d346629783
5:138658658 MATR3 T>TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	5	138658658	138658659	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	MATR3	c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	NM_199189.3	NP_954659.1:p.?	NC_000005.9:g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGA	(Likely) benign	2 labs	d2de0a86b2
1:216219912 USH2A T>G	1	216219912	216219912	T	G	USH2A	c.6186A>C	NM_206933.4	NP_996816.3:p.(Pro2062=)	NC_000001.10:g.216219912T>G	(Likely) benign	2 labs	d2e2bd73ef
8:1719690 CLN8 A>G	8	1719690	1719690	A	G	CLN8	c.470A>G	NM_018941.4	NP_061764.2:p.(His157Arg)	NC_000008.10:g.1719690A>G	(Likely) pathogenic	2 labs	d2e5a02cd0
10:71129359 HK1 C>T	10	71129359	71129359	C	T	HK1	c.959C>T	NM_001322365.2	NP_001309294.1:p.(Ser320Phe)	NC_000010.10:g.71129359C>T	VUS	2 labs	d2efc3bbf7
14:90451500 TDP1 A>G	14	90451500	90451500	A	G	TDP1	c.1077A>G	NM_018319.4	NP_060789.2:p.(Pro359=)	NC_000014.8:g.90451500A>G	(Likely) benign	2 labs	d2f01e2d33
1:17313313 ATP13A2 C>T	1	17313313	17313313	C	T	ATP13A2	c.3207G>A	NM_001141973.3	NP_001135445.1:p.(Pro1069=)	NC_000001.10:g.17313313C>T	(Likely) benign	2 labs	d31515345e
13:95243122 TGDS C>A	13	95243122	95243122	C	A	TGDS	c.298G>T	NM_014305.4	NP_055120.1:p.(Ala100Ser)	NC_000013.10:g.95243122C>A	(Likely) pathogenic	2 labs	d3190684fa
2:44073367 ABCG8 G>A	2	44073367	44073367	G	A	ABCG8	c.239G>A	NM_022437.3	NP_071882.1:p.(Cys80Tyr)	NC_000002.11:g.44073367G>A	(Likely) benign	2 labs	d31b139a49
13:32899314 BRCA2 A>C	13	32899314	32899314	A	C	BRCA2	c.418A>C	NM_000059.4	NP_000050.3:p.(Ser140Arg)	NC_000013.10:g.32899314A>C	(Likely) benign	2 labs	d332bce9f3
12:49579183 TUBA1A G>A	12	49579183	49579183	G	A	TUBA1A	c.966C>T	NM_001270399.2	NP_001257328.1:p.(Asp322=)	NC_000012.11:g.49579183G>A	(Likely) benign	2 labs	d332fb8b49
1:226924875 ITPKB ACTGCCGCTG>A	1	226924875	226924894	ACTGCCGCTG	A	ITPKB	c.276_284del	NM_002221.4	NP_002212.3:p.(Gly94_Ser96del)	NC_000001.10:g.226924886_226924894del	(Likely) benign	2 labs	d33d4d36d9
X:53246446 KDM5C C>T	X	53246446	53246446	C	T	KDM5C	c.536G>A	NM_004187.5	NP_004178.2:p.(Arg179His)	NC_000023.10:g.53246446C>T	(Likely) benign	2 labs	d33ff1ffca
15:48779530 FBN1 G>C	15	48779530	48779530	G	C	FBN1	c.3442C>G	NM_000138.5	NP_000129.3:p.(Pro1148Ala)	NC_000015.9:g.48779530G>C	(Likely) benign	3 labs	d34341660d
9:80343587 GNAQ G>GA	9	80343587	80343601	G	GA	GNAQ	c.736-5dup	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80343601dup	(Likely) benign	2 labs	d352d66701
2:179549632 TTN C>A	2	179549632	179549632	C	A	TTN	c.32554+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179549632C>A	VUS	3 labs	d3548cd42b
2:179466177 TTN A>G	2	179466177	179466177	A	G	TTN	c.55547T>C	NM_001267550.2	NP_001254479.2:p.(Ile18516Thr)	NC_000002.11:g.179466177A>G	(Likely) benign	2 labs	d354c8a51f
7:128485140 FLNC C>T	7	128485140	128485140	C	T	FLNC	c.3621C>T	NM_001458.5	NP_001449.3:p.(Asn1207=)	NC_000007.13:g.128485140C>T	(Likely) benign	3 labs	d35a40612c
4:6303573 WFS1 C>T	4	6303573	6303573	C	T	WFS1	c.2051C>T	NM_006005.3	NP_005996.2:p.(Ala684Val)	NC_000004.11:g.6303573C>T	(Likely) pathogenic	3 labs	d35db5ed5c
1:218578685 TGFB2 T>TTTGTTG	1	218578685	218578717	T	TTTGTTG	TGFB2	c.594+38_594+43dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578712_218578717dup	(Likely) benign	2 labs	d35e5cb424
5:127873187 FBN2 G>T	5	127873187	127873187	G	T	FBN2	c.110C>A	NM_001999.4	NP_001990.2:p.(Pro37Gln)	NC_000005.9:g.127873187G>T	(Likely) benign	3 labs	d36a99a653
8:42329778 SLC20A2 AAGGTCACCACACC>A	8	42329778	42329793	AAGGTCACCACACC	A	SLC20A2	c.118_130del	NM_006749.5	NP_006740.1:p.(Gly40Ter)	NC_000008.10:g.42329781_42329793del	(Likely) pathogenic	3 labs	d36e58de39
22:29115479 CHEK2 GAAGAA>G	22	29115479	29115488	GAAGAA	G	CHEK2	c.593-11_593-7del	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115484_29115488del	VUS	3 labs	d36f0f17e3
3:38768190 SCN10A G>A	3	38768190	38768190	G	A	SCN10A	c.2994C>T	NM_006514.4	NP_006505.4:p.(Pro998=)	NC_000003.11:g.38768190G>A	(Likely) benign	2 labs	d37dc5670a
16:88902111 GALNS G>A	16	88902111	88902111	G	A	GALNS	c.776+22C>T	NM_001323544.2	NP_001310473.1:p.?	NC_000016.9:g.88902111G>A	(Likely) benign	2 labs	d3809c37f0
16:57918264 CNGB1 C>T	16	57918264	57918264	C	T	CNGB1	c.3560G>A	NM_001297.5	NP_001288.3:p.(Arg1187Gln)	NC_000016.9:g.57918264C>T	(Likely) benign	2 labs	d383827f83
X:107978260 IRS4 T>A	X	107978260	107978260	T	A	IRS4	c.1315A>T	NM_003604.2	NP_003595.1:p.(Ser439Cys)	NC_000023.10:g.107978260T>A	(Likely) benign	2 labs	d383e8ad25
1:156108467 LMNA G>A	1	156108467	156108467	G	A	LMNA	c.1887G>A	NM_170707.4	NP_733821.1:p.(Val629=)	NC_000001.10:g.156108467G>A	(Likely) benign	2 labs	d39148200f
5:138268296 CTNNA1 G>A	5	138268296	138268296	G	A	CTNNA1	c.2328G>A	NM_001903.5	NP_001894.2:p.(Leu776=)	NC_000005.9:g.138268296G>A	(Likely) benign	2 labs	d394691c0b
3:167507022 SERPINI1 C>A	3	167507022	167507022	C	A	SERPINI1	c.106C>A	NM_005025.5	NP_005016.1:p.(Arg36Ser)	NC_000003.11:g.167507022C>A	(Likely) benign	2 labs	d39b713ad5
5:73072354 ARHGEF28 T>C	5	73072354	73072354	T	C	ARHGEF28	c.673T>C	NM_001080479.3	NP_001073948.2:p.(Trp225Arg)	NC_000005.9:g.73072354T>C	(Likely) benign	3 labs	d39c6022e1
15:67479818 SMAD3 C>T	15	67479818	67479818	C	T	SMAD3	c.1125C>T	NM_005902.4	NP_005893.1:p.(Ser375=)	NC_000015.9:g.67479818C>T	(Likely) benign	2 labs	d39e5c6127
X:153296596 MECP2 G>C	X	153296596	153296596	G	C	MECP2	c.404C>G	NM_001369391.2	NP_001356320.1:p.(Thr135Ser)	NC_000023.10:g.153296596G>C	(Likely) benign	2 labs	d3aaa0d087
18:21120395 NPC1 AAAG>A	18	21120395	21120398	AAAG	A	NPC1	c.2604+14_2604+16del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21120396_21120398del	(Likely) benign	2 labs	d3b67a2cb3
7:81359076 HGF G>A	7	81359076	81359076	G	A	HGF	c.885C>T	NM_000601.6	NP_000592.3:p.(Asp295=)	NC_000007.13:g.81359076G>A	(Likely) benign	2 labs	d3ad9a8a75
18:29121190 DSG2 A>G	18	29121190	29121190	A	G	DSG2	c.1914A>G	NM_001943.5	NP_001934.2:p.(Gly638=)	NC_000018.9:g.29121190A>G	(Likely) benign	4 labs	d3af996819
2:179437691 TTN T>C	2	179437691	179437691	T	C	TTN	c.73168A>G	NM_001267550.2	NP_001254479.2:p.(Thr24390Ala)	NC_000002.11:g.179437691T>C	(Likely) benign	3 labs	d3b6d239ce
19:18979917 GDF1 C>T	19	18979917	18979917	C	T	GDF1	c.608G>A	NM_001492.6	NP_001483.3:p.(Trp203Ter)	NC_000019.9:g.18979917C>T	(Likely) pathogenic	3 labs	d3b7c8724e
1:17314942 ATP13A2 G>A	1	17314942	17314942	G	A	ATP13A2	c.2622C>T	NM_001141973.3	NP_001135445.1:p.(Gly874=)	NC_000001.10:g.17314942G>A	(Likely) benign	3 labs	d3bb851320
12:111351144 MYL2 G>C	12	111351144	111351144	G	C	MYL2	c.275-16C>G	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351144G>C	(Likely) benign	2 labs	d3bd872958
19:45452335 APOC2 T>C	19	45452335	45452335	T	C	APOC2	c.216-81T>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452335T>C	(Likely) benign	2 labs	d3c06de551
15:85401006 ALPK3 C>T	15	85401006	85401006	C	T	ALPK3	c.3037C>T	NM_020778.5	NP_065829.4:p.(Arg1013Cys)	NC_000015.9:g.85401006C>T	VUS	3 labs	d3c12c716a
12:111350921 MYL2 C>T	12	111350921	111350921	C	T	MYL2	c.381G>A	NM_000432.4	NP_000423.2:p.(Ala127=)	NC_000012.11:g.111350921C>T	(Likely) benign	4 labs	d3c1ddd871
2:179398646 TTN G>A	2	179398646	179398646	G	A	TTN	c.102696C>T	NM_001267550.2	NP_001254479.2:p.(Val34232=)	NC_000002.11:g.179398646G>A	(Likely) benign	2 labs	d3c6044e1a
8:10466470 RP1L1 G>T	8	10466470	10466470	G	T	RP1L1	c.5138C>A	NM_178857.6	NP_849188.4:p.(Thr1713Asn)	NC_000008.10:g.10466470G>T	(Likely) benign	2 labs	d3d1ba580c
6:102337509 GRIK2 C>T	6	102337509	102337509	C	T	GRIK2	c.1525-6C>T	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102337509C>T	(Likely) benign	2 labs	d3d3221bfd
X:153137611 L1CAM G>A	X	153137611	153137611	G	A	L1CAM	c.396C>T	NM_001278116.2	NP_001265045.1:p.(Ala132=)	NC_000023.10:g.153137611G>A	(Likely) benign	2 labs	d3d5a65c6a
11:47364302 MYBPC3 G>A	11	47364302	47364302	G	A	MYBPC3	c.1458-7C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364302G>A	(Likely) benign	2 labs	d3ece74c75
17:29685479 NF1 G>T	17	29685479	29685479	G	T	NF1	c.7971-19G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685479G>T	(Likely) benign	2 labs	d3f45e5e3c
10:89624075 PTEN A>G	10	89624075	89624075	A	G	PTEN	c.-152A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624075A>G	(Likely) benign	3 labs	d40610b151
16:89351098 ANKRD11 C>T	16	89351098	89351098	C	T	ANKRD11	c.1852G>A	NM_013275.6	NP_037407.4:p.(Ala618Thr)	NC_000016.9:g.89351098C>T	(Likely) benign	2 labs	d407a4501a
16:15835390 MYH11 C>T	16	15835390	15835390	C	T	MYH11	c.2789G>A	NM_002474.3	NP_002465.1:p.(Arg930His)	NC_000016.9:g.15835390C>T	VUS	2 labs	d40a70a85d
4:106367535 PPA2 G>C	4	106367535	106367535	G	C	PPA2	c.441+5C>G	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106367535G>C	(Likely) benign	2 labs	d4128d158e
10:123274815 FGFR2 T>A	10	123274815	123274815	T	A	FGFR2	c.1106A>T	NM_022970.3	NP_075259.4:p.(Glu369Val)	NC_000010.10:g.123274815T>A	VUS	2 labs	d4262f222f
7:45113937 CCM2 G>A	7	45113937	45113937	G	A	CCM2	c.1107G>A	NM_001363458.2	NP_001350387.1:p.(Gly369=)	NC_000007.13:g.45113937G>A	(Likely) benign	2 labs	d42ca39f04
7:40132656 CDK13 G>A	7	40132656	40132656	G	A	CDK13	c.3508G>A	NM_003718.5	NP_003709.3:p.(Val1170Met)	NC_000007.13:g.40132656G>A	(Likely) benign	2 labs	d42e852507
9:137593039 COL5A1 G>T	9	137593039	137593039	G	T	COL5A1	c.514G>T	NM_000093.5	NP_000084.3:p.(Val172Phe)	NC_000009.11:g.137593039G>T	(Likely) benign	2 labs	d44c41d199
9:32986031 APTX AAAAAAAAAACAAAAAAAAAAAC>A	9	32986031	32986062	AAAAAAAAAACAAAAAAAAAAAC	A	APTX	c.484-25_484-4del	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986041_32986062del	(Likely) benign	4 labs	d4417127d1
1:215987076 USH2A A>G	1	215987076	215987076	A	G	USH2A	c.9739+2T>C	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215987076A>G	(Likely) pathogenic	2 labs	d468f18dca
10:88439174 LDB3 C>T	10	88439174	88439174	C	T	LDB3	c.144C>T	NM_001171610.2	NP_001165081.1:p.(Leu48=)	NC_000010.10:g.88439174C>T	(Likely) benign	2 labs	d46b270927
19:855574 ELANE C>T	19	855574	855574	C	T	ELANE	c.377C>T	NM_001972.4	NP_001963.1:p.(Ser126Leu)	NC_000019.9:g.855574C>T	(Likely) pathogenic	2 labs	d474a20f61
9:35061693 VCP G>GACAGTACACAA	9	35061693	35061707	G	GACAGTACACAA	VCP	c.1082-18_1082-8dup	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061697_35061707dup	(Likely) benign	3 labs	d46b54f761
16:15810990 MYH11 C>A	16	15810990	15810990	C	A	MYH11	c.5525+7G>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15810990C>A	(Likely) benign	3 labs	d47ef66a4a
7:33312753 BBS9 C>T	7	33312753	33312753	C	T	BBS9	c.832C>T	NM_198428.3	NP_940820.1:p.(Arg278Ter)	NC_000007.13:g.33312753C>T	(Likely) pathogenic	3 labs	d482254814
12:32994157 PKP2 T>C	12	32994157	32994157	T	C	PKP2	c.1511-18A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32994157T>C	(Likely) benign	2 labs	d4838fbc45
2:179577224 TTN G>A	2	179577224	179577224	G	A	TTN	c.27425C>T	NM_001267550.2	NP_001254479.2:p.(Ser9142Leu)	NC_000002.11:g.179577224G>A	VUS	2 labs	d4a2e9e55a
16:70289700 AARS1 G>A	16	70289700	70289700	G	A	AARS1	c.2217C>T	NM_001605.3	NP_001596.2:p.(Ile739=)	NC_000016.9:g.70289700G>A	(Likely) benign	3 labs	d4c4aeb2d9
8:145738827 RECQL4 C>T	8	145738827	145738827	C	T	RECQL4	c.2238G>A	NM_004260.4	NP_004251.4:p.(Ala746=)	NC_000008.10:g.145738827C>T	(Likely) benign	2 labs	d4c76db354
17:41223048 BRCA1 A>G	17	41223048	41223048	A	G	BRCA1	c.4883T>C	NM_007294.4	NP_009225.1:p.(Met1628Thr)	NC_000017.10:g.41223048A>G	(Likely) benign	6 labs	d4dccad043
1:22413335 CDC42 T>C	1	22413335	22413335	T	C	CDC42	c.462T>C	NM_001039802.2	NP_001034891.1:p.(Tyr154=)	NC_000001.10:g.22413335T>C	(Likely) benign	2 labs	d4ded4763c
20:62070990 KCNQ2 G>A	20	62070990	62070990	G	A	KCNQ2	c.888C>T	NM_172107.4	NP_742105.1:p.(Thr296=)	NC_000020.10:g.62070990G>A	(Likely) benign	2 labs	d4dfe2528e
3:184075047 CLCN2 A>G	3	184075047	184075047	A	G	CLCN2	c.906T>C	NM_004366.6	NP_004357.3:p.(Ile302=)	NC_000003.11:g.184075047A>G	(Likely) benign	2 labs	d4fb3cfa2a
7:116399498 MET C>T	7	116399498	116399498	C	T	MET	c.2372C>T	NM_001127500.3	NP_001120972.1:p.(Pro791Leu)	NC_000007.13:g.116399498C>T	(Likely) benign	2 labs	d4fdef2c2e
10:69905300 MYPN G>A	10	69905300	69905300	G	A	MYPN	c.1130+17G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69905300G>A	(Likely) benign	4 labs	d50736ec9f
3:178936082 PIK3CA G>A	3	178936082	178936082	G	A	PIK3CA	c.1624G>A	NM_006218.4	NP_006209.2:p.(Glu542Lys)	NC_000003.11:g.178936082G>A	(Likely) pathogenic	2 labs	d500bff8d3
20:42788855 JPH2 G>C	20	42788855	42788855	G	C	JPH2	c.572C>G	NM_020433.5	NP_065166.2:p.(Pro191Arg)	NC_000020.10:g.42788855G>C	(Likely) benign	4 labs	d50c171fa0
X:32383285 DMD A>T	X	32383285	32383285	A	T	DMD	c.4508T>A	NM_004010.3	NP_004001.1:p.(Val1503Glu)	NC_000023.10:g.32383285A>T	(Likely) benign	4 labs	d50f9bdf56
1:94467441 ABCA4 G>A	1	94467441	94467441	G	A	ABCA4	c.6255C>T	NM_000350.3	NP_000341.2:p.(Leu2085=)	NC_000001.10:g.94467441G>A	(Likely) benign	2 labs	d51f457831
15:72104798 NR2E3 G>A	15	72104798	72104798	G	A	NR2E3	c.694G>A	NM_016346.4	NP_057430.1:p.(Val232Ile)	NC_000015.9:g.72104798G>A	(Likely) benign	2 labs	d5208d2bbd
18:28666611 DSC2 T>C	18	28666611	28666611	T	C	DSC2	c.870A>G	NM_004949.5	NP_004940.1:p.(Pro290=)	NC_000018.9:g.28666611T>C	(Likely) benign	5 labs	d5269f2132
3:38622688 SCN5A G>A	3	38622688	38622688	G	A	SCN5A	c.2962C>T	NM_001099404.2	NP_001092874.1:p.(Arg988Trp)	NC_000003.11:g.38622688G>A	VUS	2 labs	d52cb59e04
2:27670413 IFT172 G>A	2	27670413	27670413	G	A	IFT172	c.4628C>T	NM_015662.3	NP_056477.1:p.(Thr1543Met)	NC_000002.11:g.27670413G>A	(Likely) benign	2 labs	d53309d252
4:122782808 BBS7 C>T	4	122782808	122782808	C	T	BBS7	c.192G>A	NM_176824.3	NP_789794.1:p.(Pro64=)	NC_000004.11:g.122782808C>T	(Likely) benign	2 labs	d536d926e3
1:236918492 ACTN2 G>A	1	236918492	236918492	G	A	ACTN2	c.1524G>A	NM_001278344.2	NP_001265273.1:p.(Thr508=)	NC_000001.10:g.236918492G>A	(Likely) benign	3 labs	d538c78b47
7:138603049 KIAA1549 G>A	7	138603049	138603049	G	A	KIAA1549	c.1323C>T	NM_001164665.2	NP_001158137.1:p.(Asp441=)	NC_000007.13:g.138603049G>A	(Likely) benign	2 labs	d53edc75b4
18:48603091 SMAD4 C>T	18	48603091	48603091	C	T	SMAD4	c.1392C>T	NM_005359.6	NP_005350.1:p.(Ala464=)	NC_000018.9:g.48603091C>T	(Likely) benign	3 labs	d54cd8796a
10:102775470 PDZD7 G>A	10	102775470	102775470	G	A	PDZD7	c.1672C>T	NM_001195263.2	NP_001182192.1:p.(Arg558Trp)	NC_000010.10:g.102775470G>A	VUS	2 labs	d554076eb0
4:185587097 PRIMPOL A>T	4	185587097	185587097	A	T	PRIMPOL	c.435A>T	NM_001345891.2	NP_001332820.1:p.(Leu145Phe)	NC_000004.11:g.185587097A>T	(Likely) benign	2 labs	d556da0225
X:129055401 UTP14A C>A	X	129055401	129055401	C	A	UTP14A	c.1186C>A	NM_006649.4	NP_006640.2:p.(Leu396Met)	NC_000023.10:g.129055401C>A	(Likely) benign	3 labs	d55a9b067c
17:41245637 BRCA1 A>G	17	41245637	41245637	A	G	BRCA1	c.1911T>C	NM_007294.4	NP_009225.1:p.(Thr637=)	NC_000017.10:g.41245637A>G	(Likely) benign	4 labs	d57739868f
13:103514758 ERCC5 G>A	13	103514758	103514758	G	A	ERCC5	c.1259G>A	NM_000123.4	NP_000114.3:p.(Arg420His)	NC_000013.10:g.103514758G>A	(Likely) benign	2 labs	d57dc2384d
7:82785271 PCLO G>A	7	82785271	82785271	G	A	PCLO	c.686C>T	NM_033026.6	NP_149015.2:p.(Pro229Leu)	NC_000007.13:g.82785271G>A	(Likely) benign	2 labs	d58342f963
18:58038832 MC4R T>G	18	58038832	58038832	T	G	MC4R	c.751A>C	NM_005912.3	NP_005903.2:p.(Ile251Leu)	NC_000018.9:g.58038832T>G	(Likely) benign	3 labs	d58742231e
18:77470825 CTDP1 C>T	18	77470825	77470825	C	T	CTDP1	c.863+389C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77470825C>T	(Likely) pathogenic	2 labs	d598aff1d6
16:56543857 BBS2 G>T	16	56543857	56543857	G	T	BBS2	c.612+12C>A	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56543857G>T	(Likely) benign	3 labs	d59b68cdd4
8:62550551 ASPH G>A	8	62550551	62550551	G	A	ASPH	c.844C>T	NM_004318.4	NP_004309.2:p.(Pro282Ser)	NC_000008.10:g.62550551G>A	(Likely) benign	3 labs	d5a366a355
10:70210007 DNA2 G>GA	10	70210007	70210019	G	GA	DNA2	c.720-4dup	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70210019dup	(Likely) benign	3 labs	d5a5854408
7:42004897 GLI3 G>C	7	42004897	42004897	G	C	GLI3	c.3774C>G	NM_000168.6	NP_000159.3:p.(Leu1258=)	NC_000007.13:g.42004897G>C	(Likely) benign	2 labs	d5aa186a91
7:128490903 FLNC C>T	7	128490903	128490903	C	T	FLNC	c.5445C>T	NM_001458.5	NP_001449.3:p.(Thr1815=)	NC_000007.13:g.128490903C>T	(Likely) benign	2 labs	d5aae3f251
9:139417423 NOTCH1 G>A	9	139417423	139417423	G	A	NOTCH1	c.621C>T	NM_017617.5	NP_060087.3:p.(Arg207=)	NC_000009.11:g.139417423G>A	(Likely) benign	2 labs	d5b88e79f0
1:243433432 SDCCAG8 A>G	1	243433432	243433432	A	G	SDCCAG8	c.93A>G	NM_006642.5	NP_006633.1:p.(Gln31=)	NC_000001.10:g.243433432A>G	(Likely) benign	3 labs	d5b8943c72
8:94767266 TMEM67 C>G	8	94767266	94767266	C	G	TMEM67	c.124C>G	NM_153704.6	NP_714915.3:p.(Pro42Ala)	NC_000008.10:g.94767266C>G	VUS	2 labs	d5b8da31fa
1:196712598 CFH T>C	1	196712598	196712598	T	C	CFH	c.3150T>C	NM_000186.4	NP_000177.2:p.(Asn1050=)	NC_000001.10:g.196712598T>C	(Likely) benign	3 labs	d5bbd6078b
4:6290751 WFS1 A>C	4	6290751	6290751	A	C	WFS1	c.353A>C	NM_006005.3	NP_005996.2:p.(Asp118Ala)	NC_000004.11:g.6290751A>C	(Likely) benign	2 labs	d5bdfa151e
16:3639301 SLX4 G>A	16	3639301	3639301	G	A	SLX4	c.4338C>T	NM_032444.4	NP_115820.2:p.(Thr1446=)	NC_000016.9:g.3639301G>A	(Likely) benign	2 labs	d5d54bced5
11:6651417 DCHS1 G>A	11	6651417	6651417	G	A	DCHS1	c.4608C>T	NM_003737.4	NP_003728.1:p.(Val1536=)	NC_000011.9:g.6651417G>A	(Likely) benign	3 labs	d5c465c2fe
22:20920813 MED15 A>ACAG	22	20920813	20920849	A	ACAG	MED15	c.706_708dup	NM_001293237.2	NP_001280166.1:p.(Gln236dup)	NC_000022.10:g.20920847_20920849dup	(Likely) benign	2 labs	d5c6e3e8c8
9:139418204 NOTCH1 G>A	9	139418204	139418204	G	A	NOTCH1	c.368C>T	NM_017617.5	NP_060087.3:p.(Thr123Met)	NC_000009.11:g.139418204G>A	(Likely) benign	3 labs	d5c8c82c5f
4:128804452 PLK4 A>G	4	128804452	128804452	A	G	PLK4	c.162A>G	NM_014264.5	NP_055079.3:p.(Val54=)	NC_000004.11:g.128804452A>G	(Likely) benign	2 labs	d5cfd133a3
17:48266141 COL1A1 C>G	17	48266141	48266141	C	G	COL1A1	c.3061G>C	NM_000088.4	NP_000079.2:p.(Glu1021Gln)	NC_000017.10:g.48266141C>G	(Likely) benign	2 labs	d5dbce143d
17:41244665 BRCA1 G>A	17	41244665	41244665	G	A	BRCA1	c.2883C>T	NM_007294.4	NP_009225.1:p.(Asn961=)	NC_000017.10:g.41244665G>A	(Likely) benign	2 labs	d5ddb2caf3
2:179448324 TTN A>G	2	179448324	179448324	A	G	TTN	c.65575+10T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448324A>G	(Likely) benign	4 labs	d5e942d720
15:67457420 SMAD3 A>G	15	67457420	67457420	A	G	SMAD3	c.394A>G	NM_005902.4	NP_005893.1:p.(Thr132Ala)	NC_000015.9:g.67457420A>G	VUS	3 labs	d5f615816f
3:12660192 RAF1 G>A	3	12660192	12660192	G	A	RAF1	c.29C>T	NM_002880.4	NP_002871.1:p.(Thr10Met)	NC_000003.11:g.12660192G>A	VUS	2 labs	d5f9f32825
18:7013883 LAMA1 C>T	18	7013883	7013883	C	T	LAMA1	c.3294G>A	NM_005559.4	NP_005550.2:p.(Ser1098=)	NC_000018.9:g.7013883C>T	(Likely) benign	2 labs	d6024d1313
19:55665404 TNNI3 G>A	19	55665404	55665404	G	A	TNNI3	c.543C>T	NM_000363.5	NP_000354.4:p.(Thr181=)	NC_000019.9:g.55665404G>A	(Likely) benign	3 labs	d60971fbc0
16:16297310 ABCC6 T>C	16	16297310	16297310	T	C	ABCC6	c.955A>G	NM_001171.6	NP_001162.5:p.(Ile319Val)	NC_000016.9:g.16297310T>C	(Likely) benign	2 labs	d6160cfe55
14:23869597 MYH6 G>A	14	23869597	23869597	G	A	MYH6	c.1449C>T	NM_002471.4	NP_002462.2:p.(Asn483=)	NC_000014.8:g.23869597G>A	(Likely) benign	3 labs	d61a25e5c8
11:6662302 DCHS1 C>T	11	6662302	6662302	C	T	DCHS1	c.543G>A	NM_003737.4	NP_003728.1:p.(Ala181=)	NC_000011.9:g.6662302C>T	(Likely) benign	2 labs	d624318356
2:62053677 FAM161A A>G	2	62053677	62053677	A	G	FAM161A	c.2064T>C	NM_001201543.2	NP_001188472.1:p.(Ile688=)	NC_000002.11:g.62053677A>G	(Likely) benign	2 labs	d6420f5ab8
10:75849902 VCL G>A	10	75849902	75849902	G	A	VCL	c.1298G>A	NM_014000.3	NP_054706.1:p.(Arg433His)	NC_000010.10:g.75849902G>A	VUS	2 labs	d6449165d8
9:139409089 NOTCH1 C>T	9	139409089	139409089	C	T	NOTCH1	c.2080G>A	NM_017617.5	NP_060087.3:p.(Glu694Lys)	NC_000009.11:g.139409089C>T	(Likely) benign	3 labs	d667c9cf0b
6:56465027 DST G>A	6	56465027	56465027	G	A	DST	c.5185-8C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56465027G>A	(Likely) benign	3 labs	d66ac6554d
15:65369514 KBTBD13 G>A	15	65369514	65369514	G	A	KBTBD13	c.361G>A	NM_001101362.3	NP_001094832.1:p.(Val121Met)	NC_000015.9:g.65369514G>A	(Likely) benign	2 labs	d66fb64d14
22:37160095 IFT27 C>T	22	37160095	37160095	C	T	IFT27	c.235-15G>A	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37160095C>T	(Likely) benign	2 labs	d676496a59
1:215956267 USH2A G>C	1	215956267	215956267	G	C	USH2A	c.10398C>G	NM_206933.4	NP_996816.3:p.(Leu3466=)	NC_000001.10:g.215956267G>C	(Likely) benign	2 labs	d676a26242
15:58840688 LIPC C>T	15	58840688	58840688	C	T	LIPC	c.968C>T	NM_000236.3	NP_000227.2:p.(Thr323Met)	NC_000015.9:g.58840688C>T	VUS	2 labs	d67b2d88a4
7:117250646 CFTR CAGTGAT>C	7	117250646	117250656	CAGTGAT	C	CFTR	c.3067_3072del	NM_000492.4	NP_000483.3:p.(Ile1023_Val1024del)	NC_000007.13:g.117250651_117250656del	(Likely) pathogenic	2 labs	d67eb9a1ee
17:41243630 BRCA1 C>A	17	41243630	41243630	C	A	BRCA1	c.3918G>T	NM_007294.4	NP_009225.1:p.(Leu1306Phe)	NC_000017.10:g.41243630C>A	(Likely) benign	3 labs	d67f8e0485
11:47355558 MYBPC3 C>T	11	47355558	47355558	C	T	MYBPC3	c.2909G>A	NM_000256.3	NP_000247.2:p.(Arg970Gln)	NC_000011.9:g.47355558C>T	VUS	3 labs	d681053be9
3:132193853 DNAJC13 C>A	3	132193853	132193853	C	A	DNAJC13	c.2369C>A	NM_015268.4	NP_056083.3:p.(Ser790Tyr)	NC_000003.11:g.132193853C>A	(Likely) benign	2 labs	d68348e1fd
3:37055947 MLH1 G>A	3	37055947	37055947	G	A	MLH1	c.702G>A	NM_000249.4	NP_000240.1:p.(Glu234=)	NC_000003.11:g.37055947G>A	(Likely) benign	3 labs	d688b48dfc
7:128038612 IMPDH1 G>A	7	128038612	128038612	G	A	IMPDH1	c.930C>T	NM_000883.4	NP_000874.2:p.(Thr310=)	NC_000007.13:g.128038612G>A	(Likely) benign	2 labs	d68cbc84ea
2:113888645 IL1RN G>T	2	113888645	113888645	G	T	IL1RN	c.127G>T	NM_001318914.2	NP_001305843.1:p.(Glu43Ter)	NC_000002.11:g.113888645G>T	(Likely) pathogenic	3 labs	d69c9269ef
19:15290007 NOTCH3 C>T	19	15290007	15290007	C	T	NOTCH3	c.3547G>A	NM_000435.3	NP_000426.2:p.(Val1183Met)	NC_000019.9:g.15290007C>T	(Likely) benign	2 labs	d69d3c2b0f
22:27019197 CRYBA4 G>C	22	27019197	27019197	G	C	CRYBA4	c.40-1G>C	NM_001886.3	NP_001877.1:p.?	NC_000022.10:g.27019197G>C	(Likely) benign	2 labs	d6a5c75293
11:2869129 KCNQ1 G>A	11	2869129	2869129	G	A	KCNQ1	c.1927G>A	NM_000218.3	NP_000209.2:p.(Gly643Ser)	NC_000011.9:g.2869129G>A	(Likely) benign	4 labs	d6a94333e6
2:179516042 TTN C>T	2	179516042	179516042	C	T	TTN	c.39553G>A	NM_001267550.2	NP_001254479.2:p.(Glu13185Lys)	NC_000002.11:g.179516042C>T	VUS	2 labs	d6a9feecd6
7:128486824 FLNC C>T	7	128486824	128486824	C	T	FLNC	c.4153C>T	NM_001458.5	NP_001449.3:p.(Leu1385=)	NC_000007.13:g.128486824C>T	(Likely) benign	3 labs	d6af700672
X:85213886 CHM G>A	X	85213886	85213886	G	A	CHM	c.799C>T	NM_000390.4	NP_000381.1:p.(Arg267Ter)	NC_000023.10:g.85213886G>A	(Likely) pathogenic	3 labs	d6b66a0ba5
7:112108114 IFRD1 A>G	7	112108114	112108114	A	G	IFRD1	c.985A>G	NM_001007245.3	NP_001007246.1:p.(Lys329Glu)	NC_000007.13:g.112108114A>G	VUS	2 labs	d6bc89fedd
14:105167744 INF2 G>A	14	105167744	105167744	G	A	INF2	c.42G>A	NM_022489.4	NP_071934.3:p.(Leu14=)	NC_000014.8:g.105167744G>A	(Likely) benign	2 labs	d6c74ba805
4:110904639 EGF G>A	4	110904639	110904639	G	A	EGF	c.2433G>A	NM_001963.6	NP_001954.2:p.(Val811=)	NC_000004.11:g.110904639G>A	(Likely) benign	3 labs	d6cc1780de
1:158613314 SPTA1 G>A	1	158613314	158613314	G	A	SPTA1	c.4339-99C>T	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158613314G>A	(Likely) pathogenic	3 labs	d6d48fb232
11:116706596 APOA1 G>C	11	116706596	116706596	G	C	APOA1	c.732C>G	NM_000039.3	NP_000030.1:p.(Pro244=)	NC_000011.9:g.116706596G>C	(Likely) benign	2 labs	d6d6747bb6
19:39018277 RYR1 C>T	19	39018277	39018277	C	T	RYR1	c.10687-10C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39018277C>T	(Likely) benign	2 labs	d6d7543be7
6:129824406 LAMA2 A>G	6	129824406	129824406	A	G	LAMA2	c.8528A>G	NM_000426.4	NP_000417.3:p.(Asn2843Ser)	NC_000006.11:g.129824406A>G	(Likely) benign	2 labs	d6dbb17946
21:47423696 COL6A1 C>T	21	47423696	47423696	C	T	COL6A1	c.2856C>T	NM_001848.3	NP_001839.2:p.(Pro952=)	NC_000021.8:g.47423696C>T	(Likely) benign	2 labs	d76418e4c7
13:32972695 BRCA2 A>G	13	32972695	32972695	A	G	BRCA2	c.10045A>G	NM_000059.4	NP_000050.3:p.(Thr3349Ala)	NC_000013.10:g.32972695A>G	(Likely) benign	4 labs	d6f2ef7a76
19:12769283 MAN2B1 G>C	19	12769283	12769283	G	C	MAN2B1	c.1068C>G	NM_000528.4	NP_000519.2:p.(Pro356=)	NC_000019.9:g.12769283G>C	(Likely) benign	2 labs	d6f8c19fdb
10:62023781 ANK3 G>A	10	62023781	62023781	G	A	ANK3	c.514-3C>T	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.62023781G>A	(Likely) benign	2 labs	d6fef65b7e
15:73615734 HCN4 G>T	15	73615734	73615734	G	T	HCN4	c.2700C>A	NM_005477.3	NP_005468.1:p.(Ala900=)	NC_000015.9:g.73615734G>T	(Likely) benign	3 labs	d70326bc7e
3:38655290 SCN5A G>A	3	38655290	38655290	G	A	SCN5A	c.647C>T	NM_198056.3	NP_932173.1:p.(Ser216Leu)	NC_000003.11:g.38655290G>A	(Likely) benign	6 labs	d70f2981b0
7:128483300 FLNC C>T	7	128483300	128483300	C	T	FLNC	c.2568C>T	NM_001458.5	NP_001449.3:p.(Pro856=)	NC_000007.13:g.128483300C>T	(Likely) benign	2 labs	d712fa1252
8:144995670 PLEC G>A	8	144995670	144995670	G	A	PLEC	c.8730C>T	NM_201380.4	NP_958782.1:p.(Ala2910=)	NC_000008.10:g.144995670G>A	(Likely) benign	2 labs	d715909a8d
2:220283202 DES G>A	2	220283202	220283202	G	A	DES	c.18G>A	NM_001927.4	NP_001918.3:p.(Ser6=)	NC_000002.11:g.220283202G>A	(Likely) benign	2 labs	d717bff393
14:105239436 AKT1 G>A	14	105239436	105239436	G	A	AKT1	c.958-7C>T	NM_001382433.1	NP_001369362.1:p.?	NC_000014.8:g.105239436G>A	(Likely) benign	2 labs	d7239779eb
14:24550718 NRL C>T	14	24550718	24550718	C	T	NRL	c.441G>A	NM_006177.5	NP_006168.1:p.(Arg147=)	NC_000014.8:g.24550718C>T	(Likely) benign	2 labs	d724b0b837
17:40688498 NAGLU G>GGCGGC	17	40688498	40688511	G	GGCGGC	NAGLU	c.217_221dup	NM_000263.4	NP_000254.2:p.(Val75ArgfsTer49)	NC_000017.10:g.40688507_40688511dup	(Likely) pathogenic	2 labs	d724f64db8
14:76548999 IFT43 C>T	14	76548999	76548999	C	T	IFT43	c.423C>T	NM_052873.3	NP_443105.2:p.(Asp141=)	NC_000014.8:g.76548999C>T	(Likely) benign	2 labs	d73003bd58
2:179579694 TTN T>A	2	179579694	179579694	T	A	TTN	c.26200+19A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179579694T>A	(Likely) benign	3 labs	d736469b6b
3:78695321 ROBO1 G>A	3	78695321	78695321	G	A	ROBO1	c.2724C>T	NM_133631.4	NP_598334.2:p.(Gly908=)	NC_000003.11:g.78695321G>A	(Likely) benign	2 labs	d737593140
6:146007341 EPM2A C>T	6	146007341	146007341	C	T	EPM2A	c.393G>A	NM_005670.4	NP_005661.1:p.(Glu131=)	NC_000006.11:g.146007341C>T	(Likely) benign	2 labs	d740678fe8
17:48272857 COL1A1 G>A	17	48272857	48272857	G	A	COL1A1	c.1156-18C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272857G>A	(Likely) benign	2 labs	d746d3f88c
1:160252904 PEX19 G>A	1	160252904	160252904	G	A	PEX19	c.181-5C>T	NM_002857.4	NP_002848.1:p.?	NC_000001.10:g.160252904G>A	(Likely) benign	2 labs	d748e7df1f
6:152694190 SYNE1 T>C	6	152694190	152694190	T	C	SYNE1	c.9489A>G	NM_182961.4	NP_892006.3:p.(Gln3163=)	NC_000006.11:g.152694190T>C	(Likely) benign	3 labs	d76676dfd1
4:6302799 WFS1 G>A	4	6302799	6302799	G	A	WFS1	c.1277G>A	NM_006005.3	NP_005996.2:p.(Cys426Tyr)	NC_000004.11:g.6302799G>A	(Likely) benign	3 labs	d76c73228c
11:6648573 DCHS1 T>C	11	6648573	6648573	T	C	DCHS1	c.5697A>G	NM_003737.4	NP_003728.1:p.(Ala1899=)	NC_000011.9:g.6648573T>C	(Likely) benign	3 labs	d76e1c936c
17:73518328 TSEN54 A>C	17	73518328	73518328	A	C	TSEN54	c.1166A>C	NM_207346.3	NP_997229.2:p.(Gln389Pro)	NC_000017.10:g.73518328A>C	(Likely) benign	2 labs	d76fac9d9f
1:245018909 HNRNPU G>A	1	245018909	245018909	G	A	HNRNPU	c.2169C>T	NM_031844.3	NP_114032.2:p.(Ala723=)	NC_000001.10:g.245018909G>A	(Likely) benign	2 labs	d771683f5e
1:161275752 MPZ C>T	1	161275752	161275752	C	T	MPZ	c.661G>A	NM_000530.8	NP_000521.2:p.(Ala221Thr)	NC_000001.10:g.161275752C>T	(Likely) pathogenic	2 labs	d771bd6b03
9:32541476 TOPORS A>G	9	32541476	32541476	A	G	TOPORS	c.3047T>C	NM_005802.5	NP_005793.2:p.(Val1016Ala)	NC_000009.11:g.32541476A>G	VUS	2 labs	d7787e86b7
6:56346956 DST C>T	6	56346956	56346956	C	T	DST	c.15066G>A	NM_001144769.5	NP_001138241.1:p.(Val5022=)	NC_000006.11:g.56346956C>T	(Likely) benign	2 labs	d785fd64e1
X:21869647 MBTPS2 C>T	X	21869647	21869647	C	T	MBTPS2	c.459C>T	NM_015884.4	NP_056968.1:p.(Pro153=)	NC_000023.10:g.21869647C>T	(Likely) benign	2 labs	d78dcd2cee
10:55582088 PCDH15 C>T	10	55582088	55582088	C	T	PCDH15	c.5419G>A	NM_001142763.2	NP_001136235.1:p.(Val1807Ile)	NC_000010.10:g.55582088C>T	(Likely) benign	2 labs	d7903e0508
2:121743982 GLI2 G>A	2	121743982	121743982	G	A	GLI2	c.2085G>A	NM_001371271.1	NP_001358200.1:p.(Thr695=)	NC_000002.11:g.121743982G>A	(Likely) benign	3 labs	d793aabd13
5:127610320 FBN2 G>C	5	127610320	127610320	G	C	FBN2	c.7650C>G	NM_001999.4	NP_001990.2:p.(Thr2550=)	NC_000005.9:g.127610320G>C	(Likely) benign	2 labs	d794e956e1
9:98209699 PTCH1 G>A	9	98209699	98209699	G	A	PTCH1	c.3839C>T	NM_000264.5	NP_000255.2:p.(Ser1280Leu)	NC_000009.11:g.98209699G>A	(Likely) benign	3 labs	d7974b6d53
11:68171892 LRP5 G>A	11	68171892	68171892	G	A	LRP5	c.58+8G>A	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68171892G>A	(Likely) benign	2 labs	d79896b22f
2:179421635 TTN C>A	2	179421635	179421635	C	A	TTN	c.80542G>T	NM_133378.4	NP_596869.4:p.(Val26848Phe)	NC_000002.11:g.179421635C>A	VUS	2 labs	d79b7c2e00
7:6026564 PMS2 A>AT	7	6026564	6026568	A	AT	PMS2	c.1831dup	NM_000535.7	NP_000526.2:p.(Ile611AsnfsTer2)	NC_000007.13:g.6026568dup	(Likely) pathogenic	3 labs	d7abf8f28b
15:52611245 MYO5A G>A	15	52611245	52611245	G	A	MYO5A	c.5159+12C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52611245G>A	(Likely) benign	2 labs	d7a71b87ac
X:153282020 IRAK1 G>A	X	153282020	153282020	G	A	IRAK1	c.1104C>T	NM_001569.4	NP_001560.2:p.(Ala368=)	NC_000023.10:g.153282020G>A	(Likely) benign	3 labs	d7ad558de7
1:43220563 P3H1 T>C	1	43220563	43220563	T	C	P3H1	c.1322A>G	NM_022356.4	NP_071751.3:p.(Asp441Gly)	NC_000001.10:g.43220563T>C	(Likely) benign	2 labs	d7b30b3d81
17:17122536 FLCN T>C	17	17122536	17122536	T	C	FLCN	c.872-13A>G	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17122536T>C	(Likely) benign	2 labs	d7b56beaa6
2:73718624 ALMS1 C>G	2	73718624	73718624	C	G	ALMS1	c.9541C>G	NM_015120.4	NP_055935.4:p.(Arg3181Gly)	NC_000002.11:g.73718624C>G	(Likely) benign	2 labs	d7baf8113e
5:127654704 FBN2 TA>T	5	127654704	127654712	TA	T	FBN2	c.4472-12del	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654712del	(Likely) benign	2 labs	d7cbe5d28a
8:10467754 RP1L1 G>A	8	10467754	10467754	G	A	RP1L1	c.3854C>T	NM_178857.6	NP_849188.4:p.(Ala1285Val)	NC_000008.10:g.10467754G>A	(Likely) benign	2 labs	d7cd5de227
17:48431214 XYLT2 G>A	17	48431214	48431214	G	A	XYLT2	c.359G>A	NM_022167.4	NP_071450.2:p.(Arg120His)	NC_000017.10:g.48431214G>A	(Likely) benign	2 labs	d7d3b14faf
13:36888478 SPART G>A	13	36888478	36888478	G	A	SPART	c.1369C>T	NM_001142295.2	NP_001135767.1:p.(Arg457Ter)	NC_000013.10:g.36888478G>A	(Likely) pathogenic	2 labs	d7de342b17
X:8536395 ANOS1 T>C	X	8536395	8536395	T	C	ANOS1	c.1085A>G	NM_000216.4	NP_000207.2:p.(Glu362Gly)	NC_000023.10:g.8536395T>C	VUS	2 labs	d7df10a283
14:23855528 MYH6 A>G	14	23855528	23855528	A	G	MYH6	c.4955T>C	NM_002471.4	NP_002462.2:p.(Leu1652Pro)	NC_000014.8:g.23855528A>G	VUS	2 labs	d7f5e70d9e
6:32020717 TNXB G>T	6	32020717	32020717	G	T	TNXB	c.8839C>A	NM_019105.8	NP_061978.6:p.(Pro2947Thr)	NC_000006.11:g.32020717G>T	(Likely) benign	2 labs	d7f7f3d6db
2:96920712 TMEM127 C>T	2	96920712	96920712	C	T	TMEM127	c.268G>A	NM_017849.4	NP_060319.1:p.(Val90Met)	NC_000002.11:g.96920712C>T	(Likely) benign	2 labs	d7f967dfd8
1:3328687 PRDM16 C>T	1	3328687	3328687	C	T	PRDM16	c.1926C>T	NM_022114.4	NP_071397.3:p.(Ser642=)	NC_000001.10:g.3328687C>T	(Likely) benign	2 labs	d806eea073
10:123310871 FGFR2 A>G	10	123310871	123310871	A	G	FGFR2	c.557T>C	NM_022970.3	NP_075259.4:p.(Met186Thr)	NC_000010.10:g.123310871A>G	(Likely) benign	4 labs	d80b76367b
2:25471002 DNMT3A G>A	2	25471002	25471002	G	A	DNMT3A	c.759C>T	NM_022552.5	NP_072046.2:p.(Pro253=)	NC_000002.11:g.25471002G>A	(Likely) benign	2 labs	d80e8eee8d
5:161300202 GABRA1 G>A	5	161300202	161300202	G	A	GABRA1	c.335G>A	NM_001127644.2	NP_001121116.1:p.(Arg112Gln)	NC_000005.9:g.161300202G>A	(Likely) pathogenic	2 labs	d811488239
2:179429298 TTN G>T	2	179429298	179429298	G	T	TTN	c.81561C>A	NM_001267550.2	NP_001254479.2:p.(Val27187=)	NC_000002.11:g.179429298G>T	(Likely) benign	2 labs	d81291628e
15:23889617 MAGEL2 G>A	15	23889617	23889617	G	A	MAGEL2	c.3273C>T	NM_019066.5	NP_061939.3:p.(Asn1091=)	NC_000015.9:g.23889617G>A	(Likely) benign	2 labs	d826d3d358
10:102510598 PAX2 C>T	10	102510598	102510598	C	T	PAX2	c.360C>T	NM_003988.5	NP_003979.2:p.(Ala120=)	NC_000010.10:g.102510598C>T	(Likely) benign	3 labs	d82aeda8c5
13:32920979 BRCA2 G>A	13	32920979	32920979	G	A	BRCA2	c.6953G>A	NM_000059.4	NP_000050.3:p.(Arg2318Gln)	NC_000013.10:g.32920979G>A	(Likely) benign	2 labs	d83f82a102
9:27218802 TEK G>A	9	27218802	27218802	G	A	TEK	c.3090G>A	NM_000459.5	NP_000450.3:p.(Glu1030=)	NC_000009.11:g.27218802G>A	(Likely) benign	2 labs	d848b30660
6:56426182 DST T>C	6	56426182	56426182	T	C	DST	c.7877A>G	NM_001144769.5	NP_001138241.1:p.(Lys2626Arg)	NC_000006.11:g.56426182T>C	VUS	2 labs	d84cfee8b3
2:163124637 IFIH1 T>C	2	163124637	163124637	T	C	IFIH1	c.2767A>G	NM_022168.4	NP_071451.2:p.(Ile923Val)	NC_000002.11:g.163124637T>C	(Likely) benign	2 labs	d856d51aaf
1:12034805 PLOD1 T>C	1	12034805	12034805	T	C	PLOD1	c.2124T>C	NM_000302.4	NP_000293.2:p.(His708=)	NC_000001.10:g.12034805T>C	(Likely) benign	2 labs	d85d10b50d
8:144999731 PLEC C>T	8	144999731	144999731	C	T	PLEC	c.4447G>A	NM_000445.5	NP_000436.2:p.(Val1483Met)	NC_000008.10:g.144999731C>T	(Likely) benign	4 labs	d85eda0746
19:39068655 RYR1 G>A	19	39068655	39068655	G	A	RYR1	c.14270G>A	NM_000540.3	NP_000531.2:p.(Arg4757His)	NC_000019.9:g.39068655G>A	VUS	2 labs	d873396065
16:67670682 CTCF C>T	16	67670682	67670682	C	T	CTCF	c.1927C>T	NM_006565.4	NP_006556.1:p.(Pro643Ser)	NC_000016.9:g.67670682C>T	(Likely) benign	3 labs	d88bb3eaeb
10:55569099 PCDH15 G>A	10	55569099	55569099	G	A	PCDH15	c.4726C>T	NM_001142769.3	NP_001136241.1:p.(Gln1576Ter)	NC_000010.10:g.55569099G>A	(Likely) pathogenic	2 labs	d87eb71f6a
2:238322579 COL6A3 A>G	2	238322579	238322579	A	G	COL6A3	c.-31+17T>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238322579A>G	(Likely) benign	2 labs	d8887b5f17
1:116268155 CASQ2 G>A	1	116268155	116268155	G	A	CASQ2	c.757C>T	NM_001232.4	NP_001223.2:p.(Arg253Cys)	NC_000001.10:g.116268155G>A	VUS	2 labs	d894ee5265
2:1684047 PXDN C>T	2	1684047	1684047	C	T	PXDN	c.648G>A	NM_012293.3	NP_036425.1:p.(Ala216=)	NC_000002.11:g.1684047C>T	(Likely) benign	2 labs	d898b6658f
8:100844606 VPS13B G>T	8	100844606	100844606	G	T	VPS13B	c.9415G>T	NM_017890.5	NP_060360.3:p.(Val3139Phe)	NC_000008.10:g.100844606G>T	(Likely) benign	2 labs	d89f771449
2:189917736 COL5A2 G>A	2	189917736	189917736	G	A	COL5A2	c.2562C>T	NM_000393.5	NP_000384.2:p.(Asp854=)	NC_000002.11:g.189917736G>A	(Likely) benign	3 labs	d8a23cd26a
19:50334047 MED25 C>T	19	50334047	50334047	C	T	MED25	c.1004C>T	NM_030973.4	NP_112235.2:p.(Ala335Val)	NC_000019.9:g.50334047C>T	(Likely) benign	5 labs	d8bce03302
7:103198514 RELN T>C	7	103198514	103198514	T	C	RELN	c.5530-18A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103198514T>C	(Likely) benign	2 labs	d8baf2268c
6:7570791 DSP G>A	6	7570791	7570791	G	A	DSP	c.1696G>A	NM_004415.4	NP_004406.2:p.(Ala566Thr)	NC_000006.11:g.7570791G>A	(Likely) benign	4 labs	d8c2e77c19
13:60485919 DIAPH3 A>G	13	60485919	60485919	A	G	DIAPH3	c.2317T>C	NM_001042517.2	NP_001035982.1:p.(Phe773Leu)	NC_000013.10:g.60485919A>G	(Likely) benign	3 labs	d8c3cc3355
8:100147234 VPS13B G>A	8	100147234	100147234	G	A	VPS13B	c.1303-9G>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100147234G>A	(Likely) benign	3 labs	d8ccd25596
7:45103558 CCM2 C>T	7	45103558	45103558	C	T	CCM2	c.246C>T	NM_001363458.2	NP_001350387.1:p.(Pro82=)	NC_000007.13:g.45103558C>T	(Likely) benign	4 labs	d8e4efc166
3:154856031 MME A>T	3	154856031	154856031	A	T	MME	c.855+6A>T	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154856031A>T	(Likely) benign	3 labs	d8fce02c11
13:32944628 BRCA2 G>A	13	32944628	32944628	G	A	BRCA2	c.8421G>A	NM_000059.4	NP_000050.3:p.(Ser2807=)	NC_000013.10:g.32944628G>A	(Likely) benign	3 labs	d907469f6c
11:62381825 ROM1 G>A	11	62381825	62381825	G	A	ROM1	c.686G>A	NM_000327.4	NP_000318.2:p.(Arg229His)	NC_000011.9:g.62381825G>A	(Likely) benign	2 labs	d91053d275
3:48629677 COL7A1 C>T	3	48629677	48629677	C	T	COL7A1	c.1098G>A	NM_000094.4	NP_000085.1:p.(Gly366=)	NC_000003.11:g.48629677C>T	(Likely) benign	2 labs	d910f63aa3
11:108119667 ATM A>G	11	108119667	108119667	A	G	ATM	c.1073A>G	NM_000051.4	NP_000042.3:p.(Asn358Ser)	NC_000011.9:g.108119667A>G	(Likely) benign	6 labs	d9307ae42d
10:85970780 CDHR1 C>T	10	85970780	85970780	C	T	CDHR1	c.1344C>T	NM_033100.4	NP_149091.1:p.(Thr448=)	NC_000010.10:g.85970780C>T	(Likely) benign	2 labs	d9316026e3
8:61765560 CHD7 G>A	8	61765560	61765560	G	A	CHD7	c.6276G>A	NM_017780.4	NP_060250.2:p.(Glu2092=)	NC_000008.10:g.61765560G>A	(Likely) benign	3 labs	d9399485d7
11:19207889 CSRP3 TGG>T	11	19207889	19207893	TGG	T	CSRP3	c.286_287del	NM_003476.5	NP_003467.1:p.(Pro96LysfsTer35)	NC_000011.9:g.19207892_19207893del	VUS	2 labs	d93b461564
16:77353770 ADAMTS18 G>A	16	77353770	77353770	G	A	ADAMTS18	c.2508C>T	NM_199355.4	NP_955387.1:p.(Pro836=)	NC_000016.9:g.77353770G>A	(Likely) benign	2 labs	d93c3699d4
3:129252495 RHO A>T	3	129252495	129252495	A	T	RHO	c.981A>T	NM_000539.3	NP_000530.1:p.(Pro327=)	NC_000003.11:g.129252495A>T	(Likely) benign	2 labs	d93c46d3e9
6:32010286 TNXB G>C	6	32010286	32010286	G	C	TNXB	c.12150C>G	NM_019105.8	NP_061978.6:p.(Arg4050=)	NC_000006.11:g.32010286G>C	(Likely) benign	2 labs	d93e2c2a84
7:138545975 KIAA1549 G>A	7	138545975	138545975	G	A	KIAA1549	c.5157C>T	NM_001164665.2	NP_001158137.1:p.(Pro1719=)	NC_000007.13:g.138545975G>A	(Likely) benign	2 labs	d940a633ab
5:37169472 CPLANE1 T>C	5	37169472	37169472	T	C	CPLANE1	c.6654A>G	NM_023073.4	NP_075561.3:p.(Thr2218=)	NC_000005.9:g.37169472T>C	(Likely) benign	2 labs	d949f61f0f
21:47662710 MCM3AP C>T	21	47662710	47662710	C	T	MCM3AP	c.5426+6G>A	NM_003906.5	NP_003897.2:p.?	NC_000021.8:g.47662710C>T	(Likely) benign	2 labs	d94db00cd6
8:27319168 CHRNA2 G>T	8	27319168	27319168	G	T	CHRNA2	c.1568C>A	NM_000742.4	NP_000733.2:p.(Pro523Gln)	NC_000008.10:g.27319168G>T	VUS	3 labs	d9595b23aa
2:179546374 TTN T>C	2	179546374	179546374	T	C	TTN	c.33172+14A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179546374T>C	(Likely) benign	2 labs	d95d36de05
4:88537072 DSPP TAGCAGTGAC>T	4	88537072	88537086	TAGCAGTGAC	T	DSPP	c.3264_3272del	NM_014208.3	NP_055023.2:p.(Asp1089_Ser1091del)	NC_000004.11:g.88537078_88537086del	(Likely) benign	3 labs	d95e263602
11:47364167 MYBPC3 G>T	11	47364167	47364167	G	T	MYBPC3	c.1586C>A	NM_000256.3	NP_000247.2:p.(Thr529Asn)	NC_000011.9:g.47364167G>T	VUS	2 labs	d95fdeb0cf
4:16204188 TAPT1 T>G	4	16204188	16204188	T	G	TAPT1	c.346A>C	NM_153365.3	NP_699196.2:p.(Ile116Leu)	NC_000004.11:g.16204188T>G	(Likely) benign	2 labs	d967aa9d0c
19:50713655 MYH14 G>C	19	50713655	50713655	G	C	MYH14	c.33G>C	NM_001145809.2	NP_001139281.1:p.(Arg11=)	NC_000019.9:g.50713655G>C	(Likely) benign	2 labs	d96850b9b8
2:44065003 ABCG5 C>T	2	44065003	44065003	C	T	ABCG5	c.235G>A	NM_022436.3	NP_071881.1:p.(Gly79Arg)	NC_000002.11:g.44065003C>T	VUS	3 labs	d977ebc21b
2:179611359 TTN A>T	2	179611359	179611359	A	T	TTN	c.15768T>A	NM_133379.5	NP_596870.2:p.(His5256Gln)	NC_000002.11:g.179611359A>T	(Likely) benign	2 labs	d979b6e4d3
7:107703333 LAMB4 G>A	7	107703333	107703333	G	A	LAMB4	c.3168C>T	NM_007356.3	NP_031382.2:p.(Val1056=)	NC_000007.13:g.107703333G>A	(Likely) benign	2 labs	d97ad03126
7:116423383 MET G>A	7	116423383	116423383	G	A	MET	c.3712G>A	NM_001127500.3	NP_001120972.1:p.(Val1238Ile)	NC_000007.13:g.116423383G>A	(Likely) pathogenic	2 labs	d97ef50f8f
5:127685088 FBN2 G>A	5	127685088	127685088	G	A	FBN2	c.2940C>T	NM_001999.4	NP_001990.2:p.(Cys980=)	NC_000005.9:g.127685088G>A	(Likely) benign	3 labs	d984e0320b
20:61448466 COL9A3 G>A	20	61448466	61448466	G	A	COL9A3	c.50G>A	NM_001853.4	NP_001844.3:p.(Gly17Glu)	NC_000020.10:g.61448466G>A	(Likely) benign	3 labs	d9889fad3d
11:47363612 MYBPC3 G>T	11	47363612	47363612	G	T	MYBPC3	c.1720C>A	NM_000256.3	NP_000247.2:p.(Arg574=)	NC_000011.9:g.47363612G>T	(Likely) benign	3 labs	d99a83b63a
13:52520404 ATP7B C>A	13	52520404	52520404	C	A	ATP7B	c.3060+16G>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52520404C>A	(Likely) benign	2 labs	d9a0c05a33
17:10312861 MYH8 A>G	17	10312861	10312861	A	G	MYH8	c.1632T>C	NM_002472.3	NP_002463.2:p.(Pro544=)	NC_000017.10:g.10312861A>G	(Likely) benign	3 labs	d9b99608d4
19:36210765 KMT2B C>A	19	36210765	36210765	C	A	KMT2B	c.516C>A	NM_014727.3	NP_055542.1:p.(Thr172=)	NC_000019.9:g.36210765C>A	(Likely) benign	2 labs	d9d4410cf7
17:7906734 GUCY2D C>T	17	7906734	7906734	C	T	GUCY2D	c.369C>T	NM_000180.4	NP_000171.1:p.(Gly123=)	NC_000017.10:g.7906734C>T	(Likely) benign	3 labs	d9d6bb4c28
17:78178931 CARD14 C>T	17	78178931	78178931	C	T	CARD14	c.2496C>T	NM_024110.4	NP_077015.2:p.(Leu832=)	NC_000017.10:g.78178931C>T	(Likely) benign	3 labs	d9e3b4cd25
X:153608348 EMD G>A	X	153608348	153608348	G	A	EMD	c.234G>A	NM_000117.3	NP_000108.1:p.(Lys78=)	NC_000023.10:g.153608348G>A	(Likely) benign	2 labs	d9e64e79b6
21:47409540 COL6A1 G>A	21	47409540	47409540	G	A	COL6A1	c.877G>A	NM_001848.3	NP_001839.2:p.(Gly293Arg)	NC_000021.8:g.47409540G>A	(Likely) pathogenic	2 labs	d9e7e77898
1:40770456 COL9A2 A>T	1	40770456	40770456	A	T	COL9A2	c.1161+10T>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40770456A>T	(Likely) benign	2 labs	d9ecdce949
14:102499611 DYNC1H1 C>T	14	102499611	102499611	C	T	DYNC1H1	c.10203C>T	NM_001376.5	NP_001367.2:p.(Asn3401=)	NC_000014.8:g.102499611C>T	(Likely) benign	3 labs	d9f72f832f
2:238262020 COL6A3 C>T	2	238262020	238262020	C	T	COL6A3	c.6654G>A	NM_004369.4	NP_004360.2:p.(Pro2218=)	NC_000002.11:g.238262020C>T	(Likely) benign	2 labs	da00ccba58
15:73614955 HCN4 G>C	15	73614955	73614955	G	C	HCN4	c.3479C>G	NM_005477.3	NP_005468.1:p.(Ser1160Cys)	NC_000015.9:g.73614955G>C	VUS	2 labs	da0f02cc7c
1:12061511 MFN2 C>T	1	12061511	12061511	C	T	MFN2	c.870C>T	NM_014874.4	NP_055689.1:p.(Gly290=)	NC_000001.10:g.12061511C>T	(Likely) benign	2 labs	da17274b66
16:17202776 XYLT1 C>A	16	17202776	17202776	C	A	XYLT1	c.2656G>T	NM_022166.4	NP_071449.1:p.(Ala886Ser)	NC_000016.9:g.17202776C>A	(Likely) benign	2 labs	da29bb8708
2:219925039 IHH G>T	2	219925039	219925039	G	T	IHH	c.151C>A	NM_002181.4	NP_002172.2:p.(Gln51Lys)	NC_000002.11:g.219925039G>T	VUS	2 labs	da2f2e8c6a
10:112590917 RBM20 G>A	10	112590917	112590917	G	A	RBM20	c.3550G>A	NM_001134363.3	NP_001127835.2:p.(Ala1184Thr)	NC_000010.10:g.112590917G>A	VUS	2 labs	da49eb2b1c
4:119673889 SEC24D G>A	4	119673889	119673889	G	A	SEC24D	c.1579C>T	NM_001318066.2	NP_001304995.1:p.(Leu527Phe)	NC_000004.11:g.119673889G>A	(Likely) benign	2 labs	da4d4f4682
13:32900775 BRCA2 C>T	13	32900775	32900775	C	T	BRCA2	c.631+25C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900775C>T	(Likely) benign	5 labs	da547b69d8
17:78186077 SGSH T>C	17	78186077	78186077	T	C	SGSH	c.746-4A>G	NM_001352921.3	NP_001339850.1:p.?	NC_000017.10:g.78186077T>C	(Likely) benign	2 labs	da5f0fbf7a
17:42084097 NAGS C>G	17	42084097	42084097	C	G	NAGS	c.1096+20C>G	NM_153006.3	NP_694551.1:p.?	NC_000017.10:g.42084097C>G	(Likely) benign	3 labs	da679376b9
2:179632576 TTN G>T	2	179632576	179632576	G	T	TTN	c.9381C>A	NM_001267550.2	NP_001254479.2:p.(Tyr3127Ter)	NC_000002.11:g.179632576G>T	(Likely) pathogenic	2 labs	da6a862498
1:215916663 USH2A C>T	1	215916663	215916663	C	T	USH2A	c.11404G>A	NM_206933.4	NP_996816.3:p.(Glu3802Lys)	NC_000001.10:g.215916663C>T	(Likely) benign	3 labs	da6b3e9c14
2:219678828 CYP27A1 G>T	2	219678828	219678828	G	T	CYP27A1	c.1102G>T	NM_000784.4	NP_000775.1:p.(Val368Leu)	NC_000002.11:g.219678828G>T	VUS	2 labs	da6d43a83c
7:55266456 EGFR C>T	7	55266456	55266456	C	T	EGFR	c.2748C>T	NM_005228.5	NP_005219.2:p.(Asp916=)	NC_000007.13:g.55266456C>T	(Likely) benign	2 labs	da810de616
14:23890233 MYH7 G>A	14	23890233	23890233	G	A	MYH7	c.3270C>T	NM_000257.4	NP_000248.2:p.(Leu1090=)	NC_000014.8:g.23890233G>A	(Likely) benign	2 labs	da8453248c
2:179315143 PRKRA A>ACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAG	2	179315143	179315144	A	ACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAG	PRKRA	c.27_28insCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAG	NM_001139517.1	NP_001132989.1:p.(Phe9_Cys10insLeuAlaLeuSerGlnSerArgHisArgArgGlyProAlaAlaGlyAlaArgGlyGln)	NC_000002.11:g.179315143_179315144insCTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAG	(Likely) benign	2 labs	da9674b41e
14:74951189 NPC2 T>G	14	74951189	74951189	T	G	NPC2	c.292A>C	NM_006432.5	NP_006423.1:p.(Asn98His)	NC_000014.8:g.74951189T>G	(Likely) benign	2 labs	da98e6c0d0
8:144999996 PLEC G>A	8	144999996	144999996	G	A	PLEC	c.4512C>T	NM_201380.4	NP_958782.1:p.(Ala1504=)	NC_000008.10:g.144999996G>A	(Likely) benign	2 labs	da9bb6eea6
2:179472155 TTN AT>A	2	179472155	179472158	AT	A	TTN	c.53259del	NM_001267550.2	NP_001254479.2:p.(Lys17753AsnfsTer7)	NC_000002.11:g.179472158del	(Likely) pathogenic	3 labs	daad51d6b8
11:6655111 DCHS1 G>T	11	6655111	6655111	G	T	DCHS1	c.2127C>A	NM_003737.4	NP_003728.1:p.(Ala709=)	NC_000011.9:g.6655111G>T	(Likely) benign	2 labs	daa28b29ef
4:15539578 CC2D2A T>C	4	15539578	15539578	T	C	CC2D2A	c.1821T>C	NM_001080522.2	NP_001073991.2:p.(Ile607=)	NC_000004.11:g.15539578T>C	(Likely) benign	2 labs	dab14f1eed
22:29885570 NEFH G>C	22	29885570	29885570	G	C	NEFH	c.1941G>C	NM_021076.4	NP_066554.2:p.(Lys647Asn)	NC_000022.10:g.29885570G>C	(Likely) benign	2 labs	dac8c970ac
2:8934091 KIDINS220 A>G	2	8934091	8934091	A	G	KIDINS220	c.1125T>C	NM_020738.4	NP_065789.1:p.(Ala375=)	NC_000002.11:g.8934091A>G	(Likely) benign	2 labs	dae41c8f03
2:27684314 IFT172 C>T	2	27684314	27684314	C	T	IFT172	c.2264G>A	NM_015662.3	NP_056477.1:p.(Arg755Gln)	NC_000002.11:g.27684314C>T	(Likely) benign	2 labs	daeeddd337
22:50893326 SBF1 T>C	22	50893326	50893326	T	C	SBF1	c.4729A>G	NM_002972.4	NP_002963.2:p.(Arg1577Gly)	NC_000022.10:g.50893326T>C	VUS	2 labs	dafda540b4
10:68139014 CTNNA3 C>T	10	68139014	68139014	C	T	CTNNA3	c.1628G>A	NM_013266.4	NP_037398.2:p.(Arg543Gln)	NC_000010.10:g.68139014C>T	VUS	2 labs	db10d375f3
1:216348661 USH2A G>A	1	216348661	216348661	G	A	USH2A	c.4560C>T	NM_206933.4	NP_996816.3:p.(Ile1520=)	NC_000001.10:g.216348661G>A	(Likely) benign	3 labs	db1673445c
12:65146532 GNS C>T	12	65146532	65146532	C	T	GNS	c.198G>A	NM_002076.4	NP_002067.1:p.(Pro66=)	NC_000012.11:g.65146532C>T	(Likely) benign	3 labs	db22b895ea
14:21792962 RPGRIP1 C>T	14	21792962	21792962	C	T	RPGRIP1	c.1948C>T	NM_020366.4	NP_065099.3:p.(Pro650Ser)	NC_000014.8:g.21792962C>T	(Likely) pathogenic	2 labs	db1dfbf385
20:57429844 GNAS C>T	20	57429844	57429844	C	T	GNAS	c.1337C>T	NM_001077490.3	NP_001070958.1:p.(Pro446Leu)	NC_000020.10:g.57429844C>T	(Likely) benign	3 labs	db2b246f92
1:12008026 PLOD1 T>C	1	12008026	12008026	T	C	PLOD1	c.77-7T>C	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12008026T>C	(Likely) benign	3 labs	db3f740925
3:38753732 SCN10A A>T	3	38753732	38753732	A	T	SCN10A	c.4009T>A	NM_006514.4	NP_006505.4:p.(Ser1337Thr)	NC_000003.11:g.38753732A>T	(Likely) benign	3 labs	db3fcd929f
14:23859530 MYH6 G>A	14	23859530	23859530	G	A	MYH6	c.3468C>T	NM_002471.4	NP_002462.2:p.(Gly1156=)	NC_000014.8:g.23859530G>A	VUS	2 labs	db402feb67
19:17740115 UNC13A G>A	19	17740115	17740115	G	A	UNC13A	c.3687C>T	NM_001080421.3	NP_001073890.2:p.(Leu1229=)	NC_000019.9:g.17740115G>A	(Likely) benign	2 labs	db4c8261a7
3:30664714 TGFBR2 G>A	3	30664714	30664714	G	A	TGFBR2	c.118G>A	NM_001024847.2	NP_001020018.1:p.(Asp40Asn)	NC_000003.11:g.30664714G>A	(Likely) benign	4 labs	db5893c9b0
2:179658220 TTN C>T	2	179658220	179658220	C	T	TTN	c.1447G>A	NM_001267550.2	NP_001254479.2:p.(Ala483Thr)	NC_000002.11:g.179658220C>T	VUS	2 labs	db662e0264
1:12009904 PLOD1 G>A	1	12009904	12009904	G	A	PLOD1	c.243G>A	NM_000302.4	NP_000293.2:p.(Leu81=)	NC_000001.10:g.12009904G>A	(Likely) benign	2 labs	db693e38dd
5:37183585 CPLANE1 T>C	5	37183585	37183585	T	C	CPLANE1	c.4698A>G	NM_023073.4	NP_075561.3:p.(Leu1566=)	NC_000005.9:g.37183585T>C	(Likely) benign	3 labs	db74bd401c
17:41246603 BRCA1 C>T	17	41246603	41246603	C	T	BRCA1	c.945G>A	NM_007294.4	NP_009225.1:p.(Arg315=)	NC_000017.10:g.41246603C>T	(Likely) benign	2 labs	db7df40a6b
20:25290105 ABHD12 G>A	20	25290105	25290105	G	A	ABHD12	c.726C>T	NM_001042472.3	NP_001035937.1:p.(Ile242=)	NC_000020.10:g.25290105G>A	(Likely) benign	2 labs	db8a207aba
4:6302452 WFS1 A>G	4	6302452	6302452	A	G	WFS1	c.930A>G	NM_006005.3	NP_005996.2:p.(Ala310=)	NC_000004.11:g.6302452A>G	(Likely) benign	3 labs	db9c985049
X:119562432 LAMP2 T>C	X	119562432	119562432	T	C	LAMP2	c.1143A>G	NM_001122606.1	NP_001116078.1:p.(Ala381=)	NC_000023.10:g.119562432T>C	(Likely) benign	3 labs	db9e01e186
1:201047168 CACNA1S C>T	1	201047168	201047168	C	T	CACNA1S	c.1458G>A	NM_000069.3	NP_000060.2:p.(Leu486=)	NC_000001.10:g.201047168C>T	(Likely) benign	2 labs	db9fdfb0c5
3:38805069 SCN10A T>C	3	38805069	38805069	T	C	SCN10A	c.618A>G	NM_006514.4	NP_006505.4:p.(Ile206Met)	NC_000003.11:g.38805069T>C	(Likely) benign	2 labs	dba2383157
14:23861810 MYH6 C>T	14	23861810	23861810	C	T	MYH6	c.3303G>A	NM_002471.4	NP_002462.2:p.(Val1101=)	NC_000014.8:g.23861810C>T	(Likely) benign	2 labs	dba8537ef1
1:47882836 FOXE3 T>C	1	47882836	47882836	T	C	FOXE3	c.849T>C	NM_012186.3	NP_036318.1:p.(Ala283=)	NC_000001.10:g.47882836T>C	(Likely) benign	2 labs	dbab710a00
3:128526409 RAB7A C>G	3	128526409	128526409	C	G	RAB7A	c.423C>G	NM_004637.6	NP_004628.4:p.(Ala141=)	NC_000003.11:g.128526409C>G	(Likely) benign	2 labs	dbaded3139
X:129147028 BCORL1 G>A	X	129147028	129147028	G	A	BCORL1	c.280G>A	NM_001379450.1	NP_001366379.1:p.(Asp94Asn)	NC_000023.10:g.129147028G>A	(Likely) benign	3 labs	dbb0ca125a
11:121393684 SORL1 G>A	11	121393684	121393684	G	A	SORL1	c.1582G>A	NM_003105.6	NP_003096.2:p.(Ala528Thr)	NC_000011.9:g.121393684G>A	(Likely) benign	2 labs	dbb14692f9
20:2644177 IDH3B G>A	20	2644177	2644177	G	A	IDH3B	c.252C>T	NM_006899.5	NP_008830.2:p.(His84=)	NC_000020.10:g.2644177G>A	(Likely) benign	2 labs	dbb19e8da9
19:15276739 NOTCH3 A>G	19	15276739	15276739	A	G	NOTCH3	c.5526T>C	NM_000435.3	NP_000426.2:p.(Ala1842=)	NC_000019.9:g.15276739A>G	(Likely) benign	2 labs	dbb246447f
3:178927410 PIK3CA A>G	3	178927410	178927410	A	G	PIK3CA	c.1173A>G	NM_006218.4	NP_006209.2:p.(Ile391Met)	NC_000003.11:g.178927410A>G	(Likely) benign	3 labs	dbb8e3c445
12:89864137 POC1B C>A	12	89864137	89864137	C	A	POC1B	c.810+1G>T	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89864137C>A	(Likely) pathogenic	3 labs	dbc54c26f0
15:48714189 FBN1 T>C	15	48714189	48714189	T	C	FBN1	c.7530A>G	NM_000138.5	NP_000129.3:p.(Lys2510=)	NC_000015.9:g.48714189T>C	(Likely) benign	2 labs	dbccba492a
11:108138061 ATM G>C	11	108138061	108138061	G	C	ATM	c.2630G>C	NM_000051.4	NP_000042.3:p.(Ser877Thr)	NC_000011.9:g.108138061G>C	(Likely) benign	4 labs	dbcf39ff01
10:55582602 PCDH15 A>G	10	55582602	55582602	A	G	PCDH15	c.4905T>C	NM_001142763.2	NP_001136235.1:p.(Thr1635=)	NC_000010.10:g.55582602A>G	(Likely) benign	2 labs	dbd2d40ea6
16:88800372 PIEZO1 GTCC>G	16	88800372	88800397	GTCC	G	PIEZO1	c.2268_2270del	NM_001142864.4	NP_001136336.2:p.(Glu756del)	NC_000016.9:g.88800395_88800397del	(Likely) benign	3 labs	dbdb58cebe
2:179430344 TTN CT>C	2	179430344	179430345	CT	C	TTN	c.80514del	NM_001267550.2	NP_001254479.2:p.(Val26839LeufsTer5)	NC_000002.11:g.179430345del	(Likely) pathogenic	3 labs	dbdaf973cf
1:10425550 KIF1B C>T	1	10425550	10425550	C	T	KIF1B	c.4458C>T	NM_015074.3	NP_055889.2:p.(Pro1486=)	NC_000001.10:g.10425550C>T	(Likely) benign	3 labs	dbe3f5d756
18:21136462 NPC1 C>T	18	21136462	21136462	C	T	NPC1	c.1071G>A	NM_000271.5	NP_000262.2:p.(Ser357=)	NC_000018.9:g.21136462C>T	(Likely) benign	3 labs	dbe8a439db
9:139391321 NOTCH1 G>A	9	139391321	139391321	G	A	NOTCH1	c.6870C>T	NM_017617.5	NP_060087.3:p.(Ser2290=)	NC_000009.11:g.139391321G>A	(Likely) benign	4 labs	dbea312cec
4:114276686 ANK2 T>C	4	114276686	114276686	T	C	ANK2	c.6912T>C	NM_001148.6	NP_001139.3:p.(Thr2304=)	NC_000004.11:g.114276686T>C	(Likely) benign	2 labs	dbed02d5e7
12:2788732 CACNA1C C>T	12	2788732	2788732	C	T	CACNA1C	c.5358C>T	NM_199460.4	NP_955630.3:p.(Gly1786=)	NC_000012.11:g.2788732C>T	(Likely) benign	2 labs	dbf10abcf3
20:45358145 SLC2A10 T>G	20	45358145	45358145	T	G	SLC2A10	c.1547+18T>G	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45358145T>G	(Likely) benign	2 labs	dc02f23334
1:116245533 CASQ2 G>A	1	116245533	116245533	G	A	CASQ2	c.1014+9C>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116245533G>A	(Likely) benign	3 labs	dc0af2f29e
1:216247485 USH2A T>C	1	216247485	216247485	T	C	USH2A	c.5573-843A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216247485T>C	(Likely) pathogenic	2 labs	dc14eb13f1
20:10620275 JAG1 G>A	20	10620275	10620275	G	A	JAG1	c.3528C>T	NM_000214.3	NP_000205.1:p.(Tyr1176=)	NC_000020.10:g.10620275G>A	(Likely) benign	2 labs	dc26c92f0c
12:40645257 LRRK2 C>A	12	40645257	40645257	C	A	LRRK2	c.1102-10C>A	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40645257C>A	(Likely) benign	3 labs	dc353aee61
15:23889169 MAGEL2 C>T	15	23889169	23889169	C	T	MAGEL2	c.3721G>A	NM_019066.5	NP_061939.3:p.(Gly1241Ser)	NC_000015.9:g.23889169C>T	(Likely) benign	2 labs	dc355f60d5
19:49692210 TRPM4 T>C	19	49692210	49692210	T	C	TRPM4	c.1881T>C	NM_017636.4	NP_060106.2:p.(Phe627=)	NC_000019.9:g.49692210T>C	(Likely) benign	2 labs	dc40593431
2:21231387 APOB T>G	2	21231387	21231387	T	G	APOB	c.8353A>C	NM_000384.3	NP_000375.3:p.(Asn2785His)	NC_000002.11:g.21231387T>G	(Likely) benign	2 labs	dc492e8cff
6:112513025 LAMA4 G>A	6	112513025	112513025	G	A	LAMA4	c.531C>T	NM_001105206.3	NP_001098676.2:p.(Pro177=)	NC_000006.11:g.112513025G>A	(Likely) benign	2 labs	dc5b3f78c5
15:48718036 FBN1 G>A	15	48718036	48718036	G	A	FBN1	c.7230C>T	NM_000138.5	NP_000129.3:p.(His2410=)	NC_000015.9:g.48718036G>A	(Likely) benign	2 labs	dc5eee4f5e
2:220283750 DES G>A	2	220283750	220283750	G	A	DES	c.566G>A	NM_001927.4	NP_001918.3:p.(Arg189Gln)	NC_000002.11:g.220283750G>A	VUS	3 labs	dc6babd6ea
11:108150352 ATM T>C	11	108150352	108150352	T	C	ATM	c.3402+17T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150352T>C	(Likely) benign	4 labs	dc6e02030c
3:37053364 MLH1 G>C	3	37053364	37053364	G	C	MLH1	c.588+11G>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053364G>C	(Likely) benign	3 labs	dc740d3cdf
5:86564528 RASA1 CAG>C	5	86564528	86564530	CAG	C	RASA1	c.261_262del	NM_002890.3	NP_002881.1:p.(Gly89ArgfsTer22)	NC_000005.9:g.86564529_86564530del	(Likely) pathogenic	2 labs	dc7c6598eb
2:179612307 TTN C>T	2	179612307	179612307	C	T	TTN	c.14820G>A	NM_133379.5	NP_596870.2:p.(Val4940=)	NC_000002.11:g.179612307C>T	(Likely) benign	2 labs	dc85b75d91
1:103381186 COL11A1 C>G	1	103381186	103381186	C	G	COL11A1	c.3852+1G>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103381186C>G	(Likely) pathogenic	2 labs	dc9337fc8d
6:152702177 SYNE1 C>T	6	152702177	152702177	C	T	SYNE1	c.8973G>A	NM_182961.4	NP_892006.3:p.(Thr2991=)	NC_000006.11:g.152702177C>T	(Likely) benign	2 labs	dc94a2f5bb
10:88683437 BMPR1A G>A	10	88683437	88683437	G	A	BMPR1A	c.1560G>A	NM_004329.3	NP_004320.2:p.(Thr520=)	NC_000010.10:g.88683437G>A	(Likely) benign	2 labs	dc99929c3f
7:112112892 IFRD1 G>A	7	112112892	112112892	G	A	IFRD1	c.1242G>A	NM_001007245.3	NP_001007246.1:p.(Thr414=)	NC_000007.13:g.112112892G>A	(Likely) benign	2 labs	dc9ade091b
X:49074374 CACNA1F C>T	X	49074374	49074374	C	T	CACNA1F	c.3052G>A	NM_005183.4	NP_005174.2:p.(Gly1018Arg)	NC_000023.10:g.49074374C>T	(Likely) pathogenic	3 labs	dca0843627
9:35076755 FANCG G>A	9	35076755	35076755	G	A	FANCG	c.890C>T	NM_004629.2	NP_004620.1:p.(Thr297Ile)	NC_000009.11:g.35076755G>A	(Likely) benign	2 labs	dca09e41b2
11:68201224 LRP5 G>A	11	68201224	68201224	G	A	LRP5	c.3918G>A	NM_002335.4	NP_002326.2:p.(Ala1306=)	NC_000011.9:g.68201224G>A	(Likely) benign	2 labs	dca1c79ddb
18:29125992 DSG2 C>T	18	29125992	29125992	C	T	DSG2	c.2643C>T	NM_001943.5	NP_001934.2:p.(Thr881=)	NC_000018.9:g.29125992C>T	(Likely) benign	4 labs	dca2e7f259
9:35065395 VCP T>C	9	35065395	35065395	T	C	VCP	c.446-17A>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35065395T>C	(Likely) benign	2 labs	dca32555c0
2:233351031 ECEL1 GA>G	2	233351031	233351033	GA	G	ECEL1	c.332del	NM_004826.4	NP_004817.2:p.(Phe111SerfsTer92)	NC_000002.11:g.233351033del	(Likely) pathogenic	2 labs	dcaa3d7032
5:90281183 ADGRV1 T>C	5	90281183	90281183	T	C	ADGRV1	c.17996T>C	NM_032119.4	NP_115495.3:p.(Leu5999Pro)	NC_000005.9:g.90281183T>C	VUS	2 labs	dca5f54db0
4:55593431 KIT G>A	4	55593431	55593431	G	A	KIT	c.1588G>A	NM_000222.3	NP_000213.1:p.(Val530Ile)	NC_000004.11:g.55593431G>A	(Likely) benign	2 labs	dca60222cb
11:6646108 DCHS1 T>C	11	6646108	6646108	T	C	DCHS1	c.7147-9A>G	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6646108T>C	(Likely) benign	2 labs	dca6298002
17:59937176 BRIP1 T>C	17	59937176	59937176	T	C	BRIP1	c.186A>G	NM_032043.3	NP_114432.2:p.(Ala62=)	NC_000017.10:g.59937176T>C	(Likely) benign	2 labs	dcadb5d145
6:152652248 SYNE1 G>A	6	152652248	152652248	G	A	SYNE1	c.13572C>T	NM_182961.4	NP_892006.3:p.(Val4524=)	NC_000006.11:g.152652248G>A	(Likely) benign	2 labs	dcba945859
2:179397684 TTN A>G	2	179397684	179397684	A	G	TTN	c.103658T>C	NM_001267550.2	NP_001254479.2:p.(Ile34553Thr)	NC_000002.11:g.179397684A>G	VUS	2 labs	dcbca466df
15:85406055 ALPK3 G>A	15	85406055	85406055	G	A	ALPK3	c.4319G>A	NM_020778.5	NP_065829.4:p.(Arg1440His)	NC_000015.9:g.85406055G>A	VUS	2 labs	dcbca695c9
4:6303542 WFS1 G>A	4	6303542	6303542	G	A	WFS1	c.2020G>A	NM_006005.3	NP_005996.2:p.(Gly674Arg)	NC_000004.11:g.6303542G>A	VUS	2 labs	dcbd638643
1:201334748 TNNT2 ACT>A	1	201334748	201334757	ACT	A	TNNT2	c.252_253del	NM_001001430.3	NP_001001430.1:p.(Arg84SerfsTer4)	NC_000001.10:g.201334756_201334757del	VUS	3 labs	dcd736ebec
1:91406734 ZNF644 T>C	1	91406734	91406734	T	C	ZNF644	c.177A>G	NM_201269.3	NP_958357.1:p.(Pro59=)	NC_000001.10:g.91406734T>C	(Likely) benign	2 labs	dcc767572d
14:23884395 MYH7 T>C	14	23884395	23884395	T	C	MYH7	c.5368A>G	NM_000257.4	NP_000248.2:p.(Ile1790Val)	NC_000014.8:g.23884395T>C	VUS	2 labs	dcd69d5694
6:110110787 FIG4 C>G	6	110110787	110110787	C	G	FIG4	c.2097-10C>G	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110110787C>G	(Likely) benign	3 labs	dcd82e112e
10:18828340 CACNB2 C>T	10	18828340	18828340	C	T	CACNB2	c.1505C>T	NM_000724.4	NP_000715.2:p.(Ser502Leu)	NC_000010.10:g.18828340C>T	(Likely) benign	2 labs	dcdb86cb46
2:179527527 TTN G>C	2	179527527	179527527	G	C	TTN	c.36803C>G	NM_001267550.2	NP_001254479.2:p.(Pro12268Arg)	NC_000002.11:g.179527527G>C	VUS	2 labs	dce829761c
7:91670121 AKAP9 G>A	7	91670121	91670121	G	A	AKAP9	c.4826G>A	NM_005751.5	NP_005742.4:p.(Arg1609Lys)	NC_000007.13:g.91670121G>A	VUS	2 labs	dcec0e6d99
12:112924286 PTPN11 C>T	12	112924286	112924286	C	T	PTPN11	c.1232C>T	NM_002834.5	NP_002825.3:p.(Thr411Met)	NC_000012.11:g.112924286C>T	VUS	2 labs	dcf4d40162
19:13386697 CACNA1A A>C	19	13386697	13386697	A	C	CACNA1A	c.3968T>G	NM_023035.3	NP_075461.2:p.(Val1323Gly)	NC_000019.9:g.13386697A>C	VUS	2 labs	dd0b41f7f1
4:114209614 ANK2 A>G	4	114209614	114209614	A	G	ANK2	c.2249A>G	NM_001148.6	NP_001139.3:p.(Gln750Arg)	NC_000004.11:g.114209614A>G	(Likely) benign	3 labs	dd1f19de80
16:11349186 SOCS1 GGGGGCC>G	16	11349186	11349201	GGGGGCC	G	SOCS1	c.144_149del	NM_003745.1	NP_003736.1:p.(Ala49_Pro50del)	NC_000016.9:g.11349196_11349201del	VUS	2 labs	dd18fb1c72
18:34191978 FHOD3 G>A	18	34191978	34191978	G	A	FHOD3	c.877G>A	NM_025135.5	NP_079411.2:p.(Gly293Ser)	NC_000018.9:g.34191978G>A	VUS	3 labs	dd39cfd1a7
1:218578685 TGFB2 TTTGTTG>T	1	218578685	218578717	TTTGTTG	T	TGFB2	c.594+38_594+43del	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578712_218578717del	(Likely) benign	2 labs	dd435b91e4
17:59853754 BRIP1 T>G	17	59853754	59853754	T	G	BRIP1	c.2097+8A>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853754T>G	(Likely) benign	2 labs	dd51c53338
6:73001657 RIMS1 C>T	6	73001657	73001657	C	T	RIMS1	c.3758C>T	NM_014989.6	NP_055804.2:p.(Pro1253Leu)	NC_000006.11:g.73001657C>T	(Likely) benign	2 labs	dd52aedfe3
12:49446342 KMT2D C>T	12	49446342	49446342	C	T	KMT2D	c.1258+5G>A	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49446342C>T	(Likely) pathogenic	2 labs	dd6719c2b9
17:15162389 PMP22 T>C	17	15162389	15162389	T	C	PMP22	c.178+22A>G	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15162389T>C	(Likely) benign	2 labs	dd7d93920d
13:111144412 COL4A2 C>G	13	111144412	111144412	C	G	COL4A2	c.3455-5C>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111144412C>G	(Likely) benign	2 labs	dd825f474f
8:42275468 SLC20A2 G>A	8	42275468	42275468	G	A	SLC20A2	c.1812C>T	NM_001257180.2	NP_001244109.1:p.(Ala604=)	NC_000008.10:g.42275468G>A	(Likely) benign	2 labs	dd85a7b326
2:179614401 TTN A>T	2	179614401	179614401	A	T	TTN	c.12726T>A	NM_133379.5	NP_596870.2:p.(Ser4242Arg)	NC_000002.11:g.179614401A>T	(Likely) benign	2 labs	dd87eccc84
19:8651562 ADAMTS10 A>G	19	8651562	8651562	A	G	ADAMTS10	c.2283T>C	NM_030957.4	NP_112219.3:p.(Pro761=)	NC_000019.9:g.8651562A>G	(Likely) benign	2 labs	dd932a0f7d
12:110221592 TRPV4 A>C	12	110221592	110221592	A	C	TRPV4	c.2459-9T>G	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110221592A>C	(Likely) benign	3 labs	dd973184b8
8:10468094 RP1L1 G>T	8	10468094	10468094	G	T	RP1L1	c.3514C>A	NM_178857.6	NP_849188.4:p.(Leu1172Ile)	NC_000008.10:g.10468094G>T	(Likely) benign	3 labs	dd9bd404fa
2:179637951 TTN A>C	2	179637951	179637951	A	C	TTN	c.7740T>G	NM_001267550.2	NP_001254479.2:p.(Ile2580Met)	NC_000002.11:g.179637951A>C	(Likely) benign	3 labs	dd9c29dd2c
15:63351873 TPM1 T>C	15	63351873	63351873	T	C	TPM1	c.486T>C	NM_001018004.2	NP_001018004.1:p.(Tyr162=)	NC_000015.9:g.63351873T>C	(Likely) benign	3 labs	dda0733687
5:89943581 ADGRV1 G>A	5	89943581	89943581	G	A	ADGRV1	c.3289G>A	NM_032119.4	NP_115495.3:p.(Gly1097Ser)	NC_000005.9:g.89943581G>A	(Likely) benign	3 labs	dda1cfd986
13:32912372 BRCA2 T>C	13	32912372	32912372	T	C	BRCA2	c.3880T>C	NM_000059.4	NP_000050.3:p.(Leu1294=)	NC_000013.10:g.32912372T>C	(Likely) benign	5 labs	ddb700cf40
8:1877605 ARHGEF10 C>G	8	1877605	1877605	C	G	ARHGEF10	c.3147C>G	NM_001308153.2	NP_001295082.1:p.(Ala1049=)	NC_000008.10:g.1877605C>G	(Likely) benign	2 labs	ddb9707080
3:178916931 PIK3CA C>A	3	178916931	178916931	C	A	PIK3CA	c.318C>A	NM_006218.4	NP_006209.2:p.(Gly106=)	NC_000003.11:g.178916931C>A	(Likely) benign	2 labs	ddb9ccfd4d
16:28493953 CLN3 C>T	16	28493953	28493953	C	T	CLN3	c.831G>A	NM_001042432.2	NP_001035897.1:p.(Val277=)	NC_000016.9:g.28493953C>T	(Likely) benign	3 labs	ddb9de0ef8
15:75189930 MPI A>G	15	75189930	75189930	A	G	MPI	c.1131A>G	NM_002435.3	NP_002426.1:p.(Val377=)	NC_000015.9:g.75189930A>G	(Likely) benign	3 labs	ddba68091c
17:3397702 ASPA C>T	17	3397702	3397702	C	T	ASPA	c.693C>T	NM_000049.4	NP_000040.1:p.(Tyr231=)	NC_000017.10:g.3397702C>T	(Likely) benign	3 labs	ddcb08dafe
17:39921283 JUP C>T	17	39921283	39921283	C	T	JUP	c.946G>A	NM_001352773.2	NP_001339702.1:p.(Val316Met)	NC_000017.10:g.39921283C>T	VUS	2 labs	ddcbd8f704
17:56798139 RAD51C T>A	17	56798139	56798139	T	A	RAD51C	c.870T>A	NM_058216.3	NP_478123.1:p.(Ile290=)	NC_000017.10:g.56798139T>A	(Likely) benign	2 labs	ddf393e39d
15:74473283 STRA6 G>C	15	74473283	74473283	G	C	STRA6	c.1685-5C>G	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74473283G>C	(Likely) benign	3 labs	ddf484a5ae
10:69881929 MYPN C>G	10	69881929	69881929	C	G	MYPN	c.734C>G	NM_032578.4	NP_115967.2:p.(Ala245Gly)	NC_000010.10:g.69881929C>G	(Likely) benign	3 labs	ddf6d68d03
14:50671133 SOS2 A>G	14	50671133	50671133	A	G	SOS2	c.88-6T>C	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50671133A>G	(Likely) benign	2 labs	de01b8e2da
7:91641928 AKAP9 A>G	7	91641928	91641928	A	G	AKAP9	c.3504A>G	NM_005751.5	NP_005742.4:p.(Glu1168=)	NC_000007.13:g.91641928A>G	(Likely) benign	2 labs	de0a26d389
11:47355192 MYBPC3 G>A	11	47355192	47355192	G	A	MYBPC3	c.3106C>T	NM_000256.3	NP_000247.2:p.(Arg1036Cys)	NC_000011.9:g.47355192G>A	(Likely) benign	4 labs	de1339ac9c
12:974291 WNK1 A>G	12	974291	974291	A	G	WNK1	c.2155A>G	NM_213655.5	NP_998820.3:p.(Ser719Gly)	NC_000012.11:g.974291A>G	(Likely) benign	2 labs	de14d2ec15
4:114209651 ANK2 C>T	4	114209651	114209651	C	T	ANK2	c.2277+9C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114209651C>T	(Likely) benign	3 labs	de1b4e6cb6
15:23891585 MAGEL2 C>T	15	23891585	23891585	C	T	MAGEL2	c.1305G>A	NM_019066.5	NP_061939.3:p.(Pro435=)	NC_000015.9:g.23891585C>T	(Likely) benign	2 labs	de2be741b7
11:47369415 MYBPC3 G>A	11	47369415	47369415	G	A	MYBPC3	c.814C>T	NM_000256.3	NP_000247.2:p.(Arg272Cys)	NC_000011.9:g.47369415G>A	VUS	3 labs	de34bbd308
1:215847849 USH2A T>C	1	215847849	215847849	T	C	USH2A	c.13404A>G	NM_206933.4	NP_996816.3:p.(Arg4468=)	NC_000001.10:g.215847849T>C	(Likely) benign	2 labs	de2d154707
1:236992526 MTR G>A	1	236992526	236992526	G	A	MTR	c.1033G>A	NM_000254.3	NP_000245.2:p.(Val345Ile)	NC_000001.10:g.236992526G>A	(Likely) benign	2 labs	de5112db86
11:27679665 BDNF C>T	11	27679665	27679665	C	T	BDNF	c.447G>A	NM_170735.6	NP_733931.1:p.(Thr149=)	NC_000011.9:g.27679665C>T	(Likely) benign	2 labs	de57db8a4e
1:236914854 ACTN2 G>A	1	236914854	236914854	G	A	ACTN2	c.1117G>A	NM_001278344.2	NP_001265273.1:p.(Glu373Lys)	NC_000001.10:g.236914854G>A	VUS	2 labs	de583d6262
2:179650408 TTN G>A	2	179650408	179650408	G	A	TTN	c.2432C>T	NM_001267550.2	NP_001254479.2:p.(Thr811Ile)	NC_000002.11:g.179650408G>A	(Likely) benign	3 labs	de619cf518
6:152658142 SYNE1 T>C	6	152658142	152658142	T	C	SYNE1	c.12362A>G	NM_182961.4	NP_892006.3:p.(Lys4121Arg)	NC_000006.11:g.152658142T>C	(Likely) benign	3 labs	de629bd891
4:88537151 DSPP GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA>G	4	88537151	88537233	GATAGCAGTGACAGCAGTGACAGCAGCAATAGCAGTGACAGCAGTGACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGCA	G	DSPP	c.3339_3419del	NM_014208.3	NP_055023.2:p.(Asn1122_Ser1148del)	NC_000004.11:g.88537153_88537233del	(Likely) benign	2 labs	de707109fa
1:94546115 ABCA4 A>G	1	94546115	94546115	A	G	ABCA4	c.1018T>C	NM_000350.3	NP_000341.2:p.(Tyr340His)	NC_000001.10:g.94546115A>G	VUS	2 labs	de7192e540
8:55537278 RP1 C>T	8	55537278	55537278	C	T	RP1	c.836C>T	NM_006269.2	NP_006260.1:p.(Ser279Phe)	NC_000008.10:g.55537278C>T	VUS	2 labs	de8a9ead3a
2:179403525 TTN A>T	2	179403525	179403525	A	T	TTN	c.99031T>A	NM_001267550.2	NP_001254479.2:p.(Ser33011Thr)	NC_000002.11:g.179403525A>T	(Likely) benign	4 labs	de94a60d7a
19:35524546 SCN1B C>T	19	35524546	35524546	C	T	SCN1B	c.351C>T	NM_001037.5	NP_001028.1:p.(Gly117=)	NC_000019.9:g.35524546C>T	(Likely) benign	3 labs	de9b07a25c
2:29295546 PCARE G>A	2	29295546	29295546	G	A	PCARE	c.1582C>T	NM_001029883.3	NP_001025054.1:p.(Arg528Cys)	NC_000002.11:g.29295546G>A	(Likely) benign	2 labs	dea0a2919e
13:32918774 BRCA2 A>G	13	32918774	32918774	A	G	BRCA2	c.6921A>G	NM_000059.4	NP_000050.3:p.(Ser2307=)	NC_000013.10:g.32918774A>G	(Likely) benign	3 labs	dea84c4742
12:5154909 KCNA5 G>A	12	5154909	5154909	G	A	KCNA5	c.1596G>A	NM_002234.4	NP_002225.2:p.(Pro532=)	NC_000012.11:g.5154909G>A	(Likely) benign	2 labs	debbb03440
11:68685361 IGHMBP2 C>T	11	68685361	68685361	C	T	IGHMBP2	c.1060+10C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68685361C>T	(Likely) benign	2 labs	debf34377c
8:145000056 PLEC T>C	8	145000056	145000056	T	C	PLEC	c.4456-4A>G	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145000056T>C	(Likely) benign	2 labs	dec5812390
2:215593743 BARD1 G>A	2	215593743	215593743	G	A	BARD1	c.2002-11C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215593743G>A	(Likely) benign	2 labs	dee241f90d
13:32953668 BRCA2 C>T	13	32953668	32953668	C	T	BRCA2	c.8953+16C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953668C>T	(Likely) benign	3 labs	ded0f82d3f
6:72960774 RIMS1 A>G	6	72960774	72960774	A	G	RIMS1	c.2523A>G	NM_014989.6	NP_055804.2:p.(Glu841=)	NC_000006.11:g.72960774A>G	(Likely) benign	2 labs	ded220eab6
X:153608075 EMD G>A	X	153608075	153608075	G	A	EMD	c.108G>A	NM_000117.3	NP_000108.1:p.(Lys36=)	NC_000023.10:g.153608075G>A	(Likely) benign	3 labs	ded5786adf
X:118603830 SLC25A5 A>G	X	118603830	118603830	A	G	SLC25A5	c.318A>G	NM_001152.5	NP_001143.2:p.(Arg106=)	NC_000023.10:g.118603830A>G	(Likely) benign	2 labs	dedc853198
22:41895813 ACO2 C>T	22	41895813	41895813	C	T	ACO2	c.120C>T	NM_001098.3	NP_001089.1:p.(Asn40=)	NC_000022.10:g.41895813C>T	(Likely) benign	2 labs	dee0cbccc8
20:44523442 CTSA TC>T	20	44523442	44523447	TC	T	CTSA	c.870-15del	NM_001127695.2	NP_001121167.1:p.?	NC_000020.10:g.44523447del	(Likely) benign	2 labs	def0d048ca
5:179248119 SQSTM1 C>T	5	179248119	179248119	C	T	SQSTM1	c.183C>T	NM_003900.5	NP_003891.1:p.(Gly61=)	NC_000005.9:g.179248119C>T	(Likely) benign	2 labs	def48a4cb9
6:152555057 SYNE1 T>A	6	152555057	152555057	T	A	SYNE1	c.20571A>T	NM_182961.4	NP_892006.3:p.(Ser6857=)	NC_000006.11:g.152555057T>A	(Likely) benign	2 labs	def86a5bd8
11:108196957 ATM G>GT	11	108196957	108196965	G	GT	ATM	c.6975+13dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196965dup	(Likely) benign	2 labs	df07ab1a76
8:38880852 ADAM9 T>A	8	38880852	38880852	T	A	ADAM9	c.914+8T>A	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38880852T>A	(Likely) benign	2 labs	df137b4b9e
9:139407872 NOTCH1 G>A	9	139407872	139407872	G	A	NOTCH1	c.2325C>T	NM_017617.5	NP_060087.3:p.(Tyr775=)	NC_000009.11:g.139407872G>A	(Likely) benign	4 labs	df14688a24
5:147207605 SPINK1 G>A	5	147207605	147207605	G	A	SPINK1	c.174C>T	NM_003122.5	NP_003113.2:p.(Cys58=)	NC_000005.9:g.147207605G>A	(Likely) benign	2 labs	df15870887
14:68193779 RDH12 C>T	14	68193779	68193779	C	T	RDH12	c.530C>T	NM_152443.3	NP_689656.2:p.(Ala177Val)	NC_000014.8:g.68193779C>T	(Likely) benign	2 labs	df1902285a
7:151478469 PRKAG2 T>C	7	151478469	151478469	T	C	PRKAG2	c.235A>G	NM_016203.4	NP_057287.2:p.(Arg79Gly)	NC_000007.13:g.151478469T>C	VUS	2 labs	df24d4e0f8
3:12626493 RAF1 A>G	3	12626493	12626493	A	G	RAF1	c.1669-13T>C	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12626493A>G	(Likely) benign	2 labs	df1ee2a5ea
9:4118634 GLIS3 G>C	9	4118634	4118634	G	C	GLIS3	c.844C>G	NM_001042413.2	NP_001035878.1:p.(Pro282Ala)	NC_000009.11:g.4118634G>C	(Likely) benign	3 labs	df387c98b1
5:90024584 ADGRV1 C>T	5	90024584	90024584	C	T	ADGRV1	c.10260C>T	NM_032119.4	NP_115495.3:p.(Phe3420=)	NC_000005.9:g.90024584C>T	(Likely) benign	3 labs	df3dc91bf0
14:21790154 RPGRIP1 C>T	14	21790154	21790154	C	T	RPGRIP1	c.1753C>T	NM_020366.4	NP_065099.3:p.(Pro585Ser)	NC_000014.8:g.21790154C>T	(Likely) benign	2 labs	df5504fcd1
4:100512919 MTTP C>G	4	100512919	100512919	C	G	MTTP	c.730C>G	NM_000253.4	NP_000244.2:p.(Gln244Glu)	NC_000004.11:g.100512919C>G	(Likely) benign	2 labs	df65e54ba5
2:71825707 DYSF C>T	2	71825707	71825707	C	T	DYSF	c.3585C>T	NM_001130981.2	NP_001124453.1:p.(Ile1195=)	NC_000002.11:g.71825707C>T	(Likely) benign	2 labs	df667c5cb7
4:41259633 UCHL1 C>A	4	41259633	41259633	C	A	UCHL1	c.53C>A	NM_004181.5	NP_004172.2:p.(Ser18Tyr)	NC_000004.11:g.41259633C>A	(Likely) benign	2 labs	df6b40fea1
16:81929431 PLCG2 C>T	16	81929431	81929431	C	T	PLCG2	c.1092C>T	NM_002661.5	NP_002652.2:p.(Pro364=)	NC_000016.9:g.81929431C>T	(Likely) benign	2 labs	df6b95a281
3:38743331 SCN10A C>T	3	38743331	38743331	C	T	SCN10A	c.4656G>A	NM_006514.4	NP_006505.4:p.(Ala1552=)	NC_000003.11:g.38743331C>T	(Likely) benign	2 labs	df71b2d055
15:48717640 FBN1 T>C	15	48717640	48717640	T	C	FBN1	c.7379A>G	NM_000138.5	NP_000129.3:p.(Lys2460Arg)	NC_000015.9:g.48717640T>C	VUS	4 labs	df822085a1
20:42747254 JPH2 G>A	20	42747254	42747254	G	A	JPH2	c.1179C>T	NM_020433.5	NP_065166.2:p.(His393=)	NC_000020.10:g.42747254G>A	(Likely) benign	2 labs	df83106705
11:108141891 ATM T>TA	11	108141891	108141892	T	TA	ATM	c.2921+19dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141892dup	(Likely) benign	4 labs	df9425279b
2:179588838 TTN G>A	2	179588838	179588838	G	A	TTN	c.21148C>T	NM_001267550.2	NP_001254479.2:p.(Leu7050=)	NC_000002.11:g.179588838G>A	(Likely) benign	4 labs	df98e98ac5
15:48757802 FBN1 G>C	15	48757802	48757802	G	C	FBN1	c.4905C>G	NM_000138.5	NP_000129.3:p.(Thr1635=)	NC_000015.9:g.48757802G>C	(Likely) benign	3 labs	df993196de
5:121413465 LOX C>G	5	121413465	121413465	C	G	LOX	c.216G>C	NM_002317.7	NP_002308.2:p.(Pro72=)	NC_000005.9:g.121413465C>G	(Likely) benign	2 labs	df9a418c7b
18:19321620 MIB1 TG>T	18	19321620	19321625	TG	T	MIB1	c.81del	NM_020774.4	NP_065825.1:p.(Lys28SerfsTer23)	NC_000018.9:g.19321625del	VUS	2 labs	dfaf700c6a
12:994290 WNK1 C>T	12	994290	994290	C	T	WNK1	c.5100C>T	NM_001184985.2	NP_001171914.1:p.(Ile1700=)	NC_000012.11:g.994290C>T	(Likely) benign	2 labs	dfb0778695
6:35480057 TULP1 G>A	6	35480057	35480057	G	A	TULP1	c.100-10C>T	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35480057G>A	(Likely) benign	2 labs	dfb31f8125
7:117182116 CFTR C>T	7	117182116	117182116	C	T	CFTR	c.1163C>T	NM_000492.4	NP_000483.3:p.(Thr388Met)	NC_000007.13:g.117182116C>T	VUS	3 labs	dfc1ebad26
17:36047417 HNF1B A>G	17	36047417	36047417	A	G	HNF1B	c.1654-22T>C	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047417A>G	(Likely) benign	2 labs	dfc621af9f
4:39247058 WDR19 G>A	4	39247058	39247058	G	A	WDR19	c.2715G>A	NM_025132.4	NP_079408.3:p.(Lys905=)	NC_000004.11:g.39247058G>A	(Likely) benign	2 labs	dfca100686
11:76892635 MYO7A G>T	11	76892635	76892635	G	T	MYO7A	c.2904G>T	NM_000260.4	NP_000251.3:p.(Glu968Asp)	NC_000011.9:g.76892635G>T	(Likely) pathogenic	2 labs	dfd838e22f
1:215813908 USH2A G>A	1	215813908	215813908	G	A	USH2A	c.14960C>T	NM_206933.4	NP_996816.3:p.(Ala4987Val)	NC_000001.10:g.215813908G>A	(Likely) benign	2 labs	dfd8a7f9de
7:94033892 COL1A2 C>T	7	94033892	94033892	C	T	COL1A2	c.304C>T	NM_000089.4	NP_000080.2:p.(Pro102Ser)	NC_000007.13:g.94033892C>T	(Likely) benign	2 labs	dfeb132d3a
2:179403567 TTN C>A	2	179403567	179403567	C	A	TTN	c.98990-1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179403567C>A	(Likely) pathogenic	4 labs	dffa990ca7
2:73717573 ALMS1 T>C	2	73717573	73717573	T	C	ALMS1	c.8490T>C	NM_015120.4	NP_055935.4:p.(Asn2830=)	NC_000002.11:g.73717573T>C	(Likely) benign	2 labs	dff2bea016
18:29115255 DSG2 G>A	18	29115255	29115255	G	A	DSG2	c.1303G>A	NM_001943.5	NP_001934.2:p.(Asp435Asn)	NC_000018.9:g.29115255G>A	(Likely) benign	4 labs	dff72a8390
8:144993786 PLEC G>A	8	144993786	144993786	G	A	PLEC	c.10614C>T	NM_201380.4	NP_958782.1:p.(Pro3538=)	NC_000008.10:g.144993786G>A	(Likely) benign	2 labs	dffb1d178e
11:6648666 DCHS1 C>T	11	6648666	6648666	C	T	DCHS1	c.5604G>A	NM_003737.4	NP_003728.1:p.(Val1868=)	NC_000011.9:g.6648666C>T	(Likely) benign	2 labs	dffcdbaa83
22:50657884 TUBGCP6 G>T	22	50657884	50657884	G	T	TUBGCP6	c.4317C>A	NM_020461.4	NP_065194.3:p.(Ser1439=)	NC_000022.10:g.50657884G>T	(Likely) benign	2 labs	e01407b663
10:72360131 PRF1 G>A	10	72360131	72360131	G	A	PRF1	c.528C>T	NM_001083116.3	NP_001076585.1:p.(Cys176=)	NC_000010.10:g.72360131G>A	(Likely) benign	3 labs	e01cb2381d
X:152959900 SLC6A8 C>T	X	152959900	152959900	C	T	SLC6A8	c.1464C>T	NM_001142805.2	NP_001136277.1:p.(Tyr488=)	NC_000023.10:g.152959900C>T	(Likely) benign	4 labs	e021cae4ae
X:32430012 DMD A>G	X	32430012	32430012	A	G	DMD	c.4090T>C	NM_004006.3	NP_003997.2:p.(Leu1364=)	NC_000023.10:g.32430012A>G	(Likely) benign	2 labs	e0231dda7e
2:179583957 TTN T>A	2	179583957	179583957	T	A	TTN	c.24160A>T	NM_001267550.2	NP_001254479.2:p.(Ile8054Leu)	NC_000002.11:g.179583957T>A	(Likely) benign	4 labs	e02776d523
2:21228349 APOB T>C	2	21228349	21228349	T	C	APOB	c.11391A>G	NM_000384.3	NP_000375.3:p.(Leu3797=)	NC_000002.11:g.21228349T>C	(Likely) benign	2 labs	e028193fc4
9:135203664 SETX C>T	9	135203664	135203664	C	T	SETX	c.3321G>A	NM_015046.7	NP_055861.3:p.(Glu1107=)	NC_000009.11:g.135203664C>T	(Likely) benign	2 labs	e0283a97dc
14:23862997 MYH6 C>A	14	23862997	23862997	C	A	MYH6	c.2806G>T	NM_002471.4	NP_002462.2:p.(Ala936Ser)	NC_000014.8:g.23862997C>A	(Likely) benign	5 labs	e0346daf39
3:24270412 THRB TA>T	3	24270412	24270423	TA	T	THRB	c.22+16del	NM_001252634.2	NP_001239563.1:p.?	NC_000003.11:g.24270423del	(Likely) benign	2 labs	e03b64f122
19:10270746 DNMT1 GAA>G	19	10270746	10270757	GAA	G	DNMT1	c.1044-9_1044-8del	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10270756_10270757del	(Likely) benign	4 labs	e03ebf5dfd
1:235543476 TBCE TTGTGTGTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTGTGTGTG	T	TBCE	c.100+44_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543508_235543529del	(Likely) benign	2 labs	e04fd87f1e
22:37900286 CARD10 T>C	22	37900286	37900286	T	C	CARD10	c.1541A>G	NM_014550.4	NP_055365.2:p.(Lys514Arg)	NC_000022.10:g.37900286T>C	(Likely) benign	2 labs	e060207ce6
3:100949961 IMPG2 G>A	3	100949961	100949961	G	A	IMPG2	c.3262C>T	NM_016247.4	NP_057331.2:p.(Arg1088Ter)	NC_000003.11:g.100949961G>A	(Likely) pathogenic	4 labs	e072960b9d
15:89760391 RLBP1 T>G	15	89760391	89760391	T	G	RLBP1	c.306A>C	NM_000326.5	NP_000317.1:p.(Ala102=)	NC_000015.9:g.89760391T>G	(Likely) benign	2 labs	e06734100f
16:88495487 ZNF469 G>A	16	88495487	88495487	G	A	ZNF469	c.1609G>A	NM_001367624.2	NP_001354553.1:p.(Val537Met)	NC_000016.9:g.88495487G>A	(Likely) benign	3 labs	e06f908b21
8:90960043 NBN G>A	8	90960043	90960043	G	A	NBN	c.1914+9C>T	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90960043G>A	(Likely) benign	2 labs	e076c0dcf3
2:179665268 TTN C>T	2	179665268	179665268	C	T	TTN	c.437G>A	NM_001267550.2	NP_001254479.2:p.(Ser146Asn)	NC_000002.11:g.179665268C>T	VUS	2 labs	e07f1eaad9
10:92678746 ANKRD1 TAA>T	10	92678746	92678749	TAA	T	ANKRD1	c.346-19_346-18del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678748_92678749del	(Likely) benign	2 labs	e090f72efb
7:128484901 FLNC G>A	7	128484901	128484901	G	A	FLNC	c.3382G>A	NM_001458.5	NP_001449.3:p.(Glu1128Lys)	NC_000007.13:g.128484901G>A	VUS	2 labs	e095fa287c
11:108121708 ATM G>T	11	108121708	108121708	G	T	ATM	c.1516G>T	NM_000051.4	NP_000042.3:p.(Gly506Cys)	NC_000011.9:g.108121708G>T	VUS	4 labs	e0a523b5a7
1:112323360 KCND3 G>A	1	112323360	112323360	G	A	KCND3	c.1323C>T	NM_004980.5	NP_004971.2:p.(Tyr441=)	NC_000001.10:g.112323360G>A	(Likely) benign	2 labs	e0985e89da
11:64514745 PYGM GT>G	11	64514745	64514748	GT	G	PYGM	c.1998del	NM_001164716.1	NP_001158188.1:p.(Lys666AsnfsTer49)	NC_000011.9:g.64514748del	(Likely) pathogenic	2 labs	e0a6fe776a
2:211444452 CPS1 T>C	2	211444452	211444452	T	C	CPS1	c.486T>C	NM_001875.5	NP_001866.2:p.(Tyr162=)	NC_000002.11:g.211444452T>C	(Likely) benign	2 labs	e0af71e02d
1:237798264 RYR2 T>A	1	237798264	237798264	T	A	RYR2	c.6764T>A	NM_001035.3	NP_001026.2:p.(Leu2255Ter)	NC_000001.10:g.237798264T>A	VUS	2 labs	e0b9862f61
15:23892456 MAGEL2 G>A	15	23892456	23892456	G	A	MAGEL2	c.434C>T	NM_019066.5	NP_061939.3:p.(Pro145Leu)	NC_000015.9:g.23892456G>A	(Likely) benign	3 labs	e0c74e2b90
2:179576049 TTN C>T	2	179576049	179576049	C	T	TTN	c.27914G>A	NM_001267550.2	NP_001254479.2:p.(Arg9305Gln)	NC_000002.11:g.179576049C>T	(Likely) benign	2 labs	e0c0746de8
11:117265647 CEP164 C>G	11	117265647	117265647	C	G	CEP164	c.2772C>G	NM_014956.5	NP_055771.4:p.(Leu924=)	NC_000011.9:g.117265647C>G	(Likely) benign	3 labs	e0c48d2952
X:132838305 GPC3 G>GA	X	132838305	132838318	G	GA	GPC3	c.1033-5dup	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132838318dup	(Likely) benign	3 labs	e0cb39baec
9:32986030 APTX TA>T	9	32986030	32986040	TA	T	APTX	c.484-3del	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986040del	(Likely) benign	3 labs	e0cfbbe562
5:127693093 FBN2 A>G	5	127693093	127693093	A	G	FBN2	c.2555-6T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127693093A>G	(Likely) benign	2 labs	e0d1c0b38b
12:48377898 COL2A1 G>A	12	48377898	48377898	G	A	COL2A1	c.1913C>T	NM_001844.5	NP_001835.3:p.(Thr638Ile)	NC_000012.11:g.48377898G>A	(Likely) benign	3 labs	e0e3b31ffa
2:152501045 NEB G>A	2	152501045	152501045	G	A	NEB	c.7581C>T	NM_001271208.2	NP_001258137.2:p.(Tyr2527=)	NC_000002.11:g.152501045G>A	(Likely) benign	4 labs	e0f02eb4b4
19:38955289 RYR1 G>A	19	38955289	38955289	G	A	RYR1	c.2797G>A	NM_000540.3	NP_000531.2:p.(Ala933Thr)	NC_000019.9:g.38955289G>A	VUS	2 labs	e0fa0d8db2
12:88457911 CEP290 A>C	12	88457911	88457911	A	C	CEP290	c.6136-19T>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88457911A>C	(Likely) benign	2 labs	e124d5bacd
17:17122436 FLCN C>T	17	17122436	17122436	C	T	FLCN	c.959G>A	NM_144997.7	NP_659434.2:p.(Arg320Gln)	NC_000017.10:g.17122436C>T	(Likely) benign	2 labs	e1020a11b2
10:89720633 PTEN C>CT	10	89720633	89720648	C	CT	PTEN	c.802-3dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720648dup	(Likely) benign	5 labs	e1204828cf
5:13737496 DNAH5 A>G	5	13737496	13737496	A	G	DNAH5	c.11320T>C	NM_001369.3	NP_001360.1:p.(Ser3774Pro)	NC_000005.9:g.13737496A>G	VUS	2 labs	e10537f5c9
6:32018110 TNXB C>T	6	32018110	32018110	C	T	TNXB	c.9110-12G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32018110C>T	(Likely) benign	2 labs	e10765c9e9
7:94048862 COL1A2 G>A	7	94048862	94048862	G	A	COL1A2	c.2078G>A	NM_000089.4	NP_000080.2:p.(Arg693Gln)	NC_000007.13:g.94048862G>A	(Likely) benign	4 labs	e11019c5e2
22:29886413 NEFH A>G	22	29886413	29886413	A	G	NEFH	c.2784A>G	NM_021076.4	NP_066554.2:p.(Val928=)	NC_000022.10:g.29886413A>G	(Likely) benign	2 labs	e11a3be9c4
2:189863424 COL3A1 C>T	2	189863424	189863424	C	T	COL3A1	c.2002C>T	NM_000090.4	NP_000081.2:p.(Pro668Ser)	NC_000002.11:g.189863424C>T	(Likely) benign	2 labs	e128fffa39
13:23894778 SGCG T>C	13	23894778	23894778	T	C	SGCG	c.581T>C	NM_000231.3	NP_000222.2:p.(Leu194Ser)	NC_000013.10:g.23894778T>C	(Likely) pathogenic	4 labs	e1317ffba8
14:23890217 MYH7 C>A	14	23890217	23890217	C	A	MYH7	c.3286G>T	NM_000257.4	NP_000248.2:p.(Asp1096Tyr)	NC_000014.8:g.23890217C>A	VUS	3 labs	e13f1e57f8
9:139397791 NOTCH1 ACAAT>A	9	139397791	139397797	ACAAT	A	NOTCH1	c.5019-13_5019-10del	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139397794_139397797del	(Likely) benign	2 labs	e1498584da
10:77795827 LRMDA C>T	10	77795827	77795827	C	T	LRMDA	c.109C>T	NM_032024.5	NP_114413.1:p.(Leu37=)	NC_000010.10:g.77795827C>T	(Likely) benign	2 labs	e14f79f417
2:1748063 PXDN C>T	2	1748063	1748063	C	T	PXDN	c.165G>A	NM_012293.3	NP_036425.1:p.(Glu55=)	NC_000002.11:g.1748063C>T	(Likely) benign	2 labs	e1595c9f2b
2:182521707 CERKL C>T	2	182521707	182521707	C	T	CERKL	c.27G>A	NM_001030311.3	NP_001025482.1:p.(Arg9=)	NC_000002.11:g.182521707C>T	(Likely) benign	2 labs	e16492bccd
X:41333517 NYX C>T	X	41333517	41333517	C	T	NYX	c.811C>T	NM_022567.2	NP_072089.1:p.(Arg271Cys)	NC_000023.10:g.41333517C>T	(Likely) benign	3 labs	e16858e50f
22:39631884 PDGFB C>T	22	39631884	39631884	C	T	PDGFB	c.64-5G>A	NM_002608.4	NP_002599.1:p.?	NC_000022.10:g.39631884C>T	VUS	2 labs	e1720c44c4
15:73615146 HCN4 G>A	15	73615146	73615146	G	A	HCN4	c.3288C>T	NM_005477.3	NP_005468.1:p.(Asp1096=)	NC_000015.9:g.73615146G>A	(Likely) benign	2 labs	e172d24d42
X:44732885 KDM6A G>A	X	44732885	44732885	G	A	KDM6A	c.88G>A	NM_001291415.2	NP_001278344.1:p.(Ala30Thr)	NC_000023.10:g.44732885G>A	(Likely) benign	2 labs	e178bea892
13:32912964 BRCA2 TGAAA>T	13	32912964	32912973	TGAAA	T	BRCA2	c.4478_4481del	NM_000059.4	NP_000050.3:p.(Glu1493ValfsTer10)	NC_000013.10:g.32912970_32912973del	(Likely) pathogenic	2 labs	e17cf9d351
8:118847782 EXT1 G>A	8	118847782	118847782	G	A	EXT1	c.1065C>T	NM_000127.3	NP_000118.2:p.(Cys355=)	NC_000008.10:g.118847782G>A	(Likely) benign	2 labs	e181865fd4
12:112910844 PTPN11 T>C	12	112910844	112910844	T	C	PTPN11	c.853T>C	NM_002834.5	NP_002825.3:p.(Phe285Leu)	NC_000012.11:g.112910844T>C	(Likely) pathogenic	3 labs	e18f3773a8
4:6290741 WFS1 G>A	4	6290741	6290741	G	A	WFS1	c.343G>A	NM_006005.3	NP_005996.2:p.(Gly115Ser)	NC_000004.11:g.6290741G>A	(Likely) benign	2 labs	e19b6d1131
1:12023707 PLOD1 G>A	1	12023707	12023707	G	A	PLOD1	c.1202+14G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12023707G>A	(Likely) benign	2 labs	e19e2cd8a9
15:73617711 HCN4 G>A	15	73617711	73617711	G	A	HCN4	c.1665C>T	NM_005477.3	NP_005468.1:p.(Tyr555=)	NC_000015.9:g.73617711G>A	(Likely) benign	2 labs	e19fddbbe1
16:74750396 FA2H T>C	16	74750396	74750396	T	C	FA2H	c.888A>G	NM_024306.5	NP_077282.3:p.(Val296=)	NC_000016.9:g.74750396T>C	(Likely) benign	3 labs	e1a4a74052
17:39913682 JUP C>T	17	39913682	39913682	C	T	JUP	c.2031G>A	NM_002230.4	NP_002221.1:p.(Pro677=)	NC_000017.10:g.39913682C>T	(Likely) benign	3 labs	e1a88ab6ad
3:132235344 DNAJC13 A>T	3	132235344	132235344	A	T	DNAJC13	c.5560+4A>T	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132235344A>T	(Likely) benign	2 labs	e1a8fcc26d
17:33428327 RAD51D G>A	17	33428327	33428327	G	A	RAD51D	c.796C>T	NM_002878.4	NP_002869.3:p.(Arg266Cys)	NC_000017.10:g.33428327G>A	VUS	2 labs	e1abbccbc7
1:3327949 PRDM16 T>C	1	3327949	3327949	T	C	PRDM16	c.1188T>C	NM_022114.4	NP_071397.3:p.(Cys396=)	NC_000001.10:g.3327949T>C	(Likely) benign	2 labs	e1b02fc9e3
19:15298024 NOTCH3 G>A	19	15298024	15298024	G	A	NOTCH3	c.1732C>T	NM_000435.3	NP_000426.2:p.(Arg578Cys)	NC_000019.9:g.15298024G>A	(Likely) pathogenic	2 labs	e1b84de7e1
3:38646357 SCN5A A>C	3	38646357	38646357	A	C	SCN5A	c.1381T>G	NM_001099404.2	NP_001092874.1:p.(Leu461Val)	NC_000003.11:g.38646357A>C	(Likely) benign	4 labs	e1ba9ad07a
16:88800122 PIEZO1 C>G	16	88800122	88800122	C	G	PIEZO1	c.2361G>C	NM_001142864.4	NP_001136336.2:p.(Arg787=)	NC_000016.9:g.88800122C>G	(Likely) benign	2 labs	e1ccf191c7
7:140481425 BRAF T>C	7	140481425	140481425	T	C	BRAF	c.1503A>G	NM_001374258.1	NP_001361187.1:p.(Gln501=)	NC_000007.13:g.140481425T>C	(Likely) benign	2 labs	e1d2b32028
8:145584361 SLC52A2 G>A	8	145584361	145584361	G	A	SLC52A2	c.1113G>A	NM_001363118.2	NP_001350047.1:p.(Gly371=)	NC_000008.10:g.145584361G>A	(Likely) benign	4 labs	e1d53b1408
9:32987594 APTX G>T	9	32987594	32987594	G	T	APTX	c.431C>A	NM_001195249.2	NP_001182178.1:p.(Ser144Tyr)	NC_000009.11:g.32987594G>T	(Likely) benign	3 labs	e1d9ce9d37
8:38271546 FGFR1 G>A	8	38271546	38271546	G	A	FGFR1	c.2187-5C>T	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38271546G>A	(Likely) benign	2 labs	e1dbf0a859
17:74477579 RHBDF2 T>G	17	74477579	74477579	T	G	RHBDF2	c.28A>C	NM_024599.5	NP_078875.4:p.(Ser10Arg)	NC_000017.10:g.74477579T>G	(Likely) benign	2 labs	e1ecd7b502
5:172661963 NKX2-5 C>G	5	172661963	172661963	C	G	NKX2-5	c.124G>C	NM_001166175.2	NP_001159647.1:p.(Ala42Pro)	NC_000005.9:g.172661963C>G	(Likely) benign	3 labs	e205ae0d65
2:179481724 TTN A>C	2	179481724	179481724	A	C	TTN	c.47892T>G	NM_001267550.2	NP_001254479.2:p.(Asp15964Glu)	NC_000002.11:g.179481724A>C	VUS	2 labs	e20936f3d3
19:46057071 OPA3 C>T	19	46057071	46057071	C	T	OPA3	c.241G>A	NM_025136.4	NP_079412.1:p.(Ala81Thr)	NC_000019.9:g.46057071C>T	VUS	2 labs	e20b8f6223
15:45403694 DUOX2 T>TC	15	45403694	45403700	T	TC	DUOX2	c.602dup	NM_014080.5	NP_054799.4:p.(Gln202ThrfsTer99)	NC_000015.9:g.45403700dup	(Likely) pathogenic	3 labs	e20fa3d997
X:70443780 GJB1 C>T	X	70443780	70443780	C	T	GJB1	c.223C>T	NM_000166.6	NP_000157.1:p.(Arg75Trp)	NC_000023.10:g.70443780C>T	(Likely) pathogenic	2 labs	e220620a1a
9:111659219 ELP1 G>A	9	111659219	111659219	G	A	ELP1	c.2587+14C>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111659219G>A	(Likely) benign	2 labs	e22ecd5a5c
12:48391427 COL2A1 CA>C	12	48391427	48391428	CA	C	COL2A1	c.492del	NM_001844.5	NP_001835.3:p.(Gly165ValfsTer34)	NC_000012.11:g.48391428del	(Likely) pathogenic	2 labs	e230e81176
5:149756031 TCOF1 C>T	5	149756031	149756031	C	T	TCOF1	c.2188C>T	NM_001135243.2	NP_001128715.1:p.(Pro730Ser)	NC_000005.9:g.149756031C>T	(Likely) benign	3 labs	e2364977a7
7:618974 PRKAR1B C>T	7	618974	618974	C	T	PRKAR1B	c.810G>A	NM_001164761.2	NP_001158233.1:p.(Ala270=)	NC_000007.13:g.618974C>T	(Likely) benign	2 labs	e23cdfb102
17:39921279 JUP T>G	17	39921279	39921279	T	G	JUP	c.950A>C	NM_001352773.2	NP_001339702.1:p.(Gln317Pro)	NC_000017.10:g.39921279T>G	VUS	2 labs	e24b4857c5
12:994014 WNK1 C>T	12	994014	994014	C	T	WNK1	c.4824C>T	NM_001184985.2	NP_001171914.1:p.(Thr1608=)	NC_000012.11:g.994014C>T	(Likely) benign	2 labs	e24c958f56
8:10465815 RP1L1 G>A	8	10465815	10465815	G	A	RP1L1	c.5793C>T	NM_178857.6	NP_849188.4:p.(Asp1931=)	NC_000008.10:g.10465815G>A	(Likely) benign	2 labs	e2522044db
2:220285266 DES A>T	2	220285266	220285266	A	T	DES	c.785A>T	NM_001927.4	NP_001918.3:p.(Glu262Val)	NC_000002.11:g.220285266A>T	(Likely) benign	2 labs	e26dcc5811
10:71060634 HK1 G>A	10	71060634	71060634	G	A	HK1	c.27+17G>A	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71060634G>A	(Likely) benign	2 labs	e276701f7a
5:1409127 SLC6A3 T>C	5	1409127	1409127	T	C	SLC6A3	c.1498+14A>G	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1409127T>C	(Likely) benign	3 labs	e278e01989
6:75890933 COL12A1 T>TAA	6	75890933	75890946	T	TAA	COL12A1	c.1892-8_1892-7dup	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890945_75890946dup	(Likely) benign	4 labs	e27ba0c691
9:139324740 INPP5E C>G	9	139324740	139324740	C	G	INPP5E	c.1791G>C	NM_019892.6	NP_063945.2:p.(Pro597=)	NC_000009.11:g.139324740C>G	(Likely) benign	4 labs	e2915ad2e5
6:135611570 AHI1 A>G	6	135611570	135611570	A	G	AHI1	c.3579T>C	NM_001350503.2	NP_001337432.1:p.(Thr1193=)	NC_000006.11:g.135611570A>G	(Likely) benign	2 labs	e2924c6c6f
17:41276047 BRCA1 C>CT	17	41276047	41276048	C	CT	BRCA1	c.66dup	NM_007294.4	NP_009225.1:p.(Glu23ArgfsTer18)	NC_000017.10:g.41276048dup	(Likely) pathogenic	7 labs	e29cccad31
14:51094961 ATL1 A>C	14	51094961	51094961	A	C	ATL1	c.1332A>C	NM_001127713.1	NP_001121185.1:p.(Ala444=)	NC_000014.8:g.51094961A>C	(Likely) benign	3 labs	e29c26d635
2:179594603 TTN T>C	2	179594603	179594603	T	C	TTN	c.18377A>G	NM_001267550.2	NP_001254479.2:p.(Glu6126Gly)	NC_000002.11:g.179594603T>C	VUS	2 labs	e2a6216f60
8:17924739 ASAH1 A>T	8	17924739	17924739	A	T	ASAH1	c.372T>A	NM_177924.5	NP_808592.2:p.(Asp124Glu)	NC_000008.10:g.17924739A>T	(Likely) benign	2 labs	e2a6cc14d7
21:46875982 COL18A1 G>A	21	46875982	46875982	G	A	COL18A1	c.538G>A	NM_030582.4	NP_085059.2:p.(Ala180Thr)	NC_000021.8:g.46875982G>A	(Likely) benign	2 labs	e2adfdc983
8:145583396 SLC52A2 C>T	8	145583396	145583396	C	T	SLC52A2	c.244C>T	NM_024531.5	NP_078807.1:p.(Arg82Trp)	NC_000008.10:g.145583396C>T	VUS	2 labs	e2ae7b9579
1:103488342 COL11A1 A>T	1	103488342	103488342	A	T	COL11A1	c.1237T>A	NM_080629.3	NP_542196.2:p.(Phe413Ile)	NC_000001.10:g.103488342A>T	VUS	2 labs	e2b681e8f9
2:179558721 TTN T>C	2	179558721	179558721	T	C	TTN	c.27709A>G	NM_133378.4	NP_596869.4:p.(Thr9237Ala)	NC_000002.11:g.179558721T>C	VUS	2 labs	e2c4771849
7:91622303 AKAP9 G>C	7	91622303	91622303	G	C	AKAP9	c.510G>C	NM_005751.5	NP_005742.4:p.(Glu170Asp)	NC_000007.13:g.91622303G>C	(Likely) benign	4 labs	e2c8245dd8
19:15299051 NOTCH3 G>A	19	15299051	15299051	G	A	NOTCH3	c.1487C>T	NM_000435.3	NP_000426.2:p.(Pro496Leu)	NC_000019.9:g.15299051G>A	(Likely) benign	2 labs	e2cd9439a4
X:129149931 BCORL1 T>C	X	129149931	129149931	T	C	BCORL1	c.3183T>C	NM_001184772.3	NP_001171701.1:p.(Asn1061=)	NC_000023.10:g.129149931T>C	(Likely) benign	2 labs	e2ce4e6182
1:94471056 ABCA4 G>A	1	94471056	94471056	G	A	ABCA4	c.6088C>T	NM_000350.3	NP_000341.2:p.(Arg2030Ter)	NC_000001.10:g.94471056G>A	(Likely) pathogenic	2 labs	e2d0943557
17:44061271 MAPT C>T	17	44061271	44061271	C	T	MAPT	c.1101C>T	NM_001123066.4	NP_001116538.2:p.(Pro367=)	NC_000017.10:g.44061271C>T	(Likely) benign	2 labs	e2d3ce6007
17:33430316 RAD51D C>T	17	33430316	33430316	C	T	RAD51D	c.695G>A	NM_002878.4	NP_002869.3:p.(Arg232Gln)	NC_000017.10:g.33430316C>T	(Likely) benign	5 labs	e2d579ef8e
10:88451759 LDB3 C>T	10	88451759	88451759	C	T	LDB3	c.1000C>T	NM_001171610.2	NP_001165081.1:p.(Arg334Cys)	NC_000010.10:g.88451759C>T	VUS	2 labs	e2e59a6150
9:107566930 ABCA1 C>T	9	107566930	107566930	C	T	ABCA1	c.4536G>A	NM_005502.4	NP_005493.2:p.(Thr1512=)	NC_000009.11:g.107566930C>T	(Likely) benign	2 labs	e2e71bb5a5
11:1775284 CTSD C>T	11	1775284	1775284	C	T	CTSD	c.912G>A	NM_001909.5	NP_001900.1:p.(Pro304=)	NC_000011.9:g.1775284C>T	(Likely) benign	2 labs	e2ec7f9918
2:179444875 TTN A>G	2	179444875	179444875	A	G	TTN	c.67139T>C	NM_001267550.2	NP_001254479.2:p.(Ile22380Thr)	NC_000002.11:g.179444875A>G	VUS	5 labs	e2f16fd61a
19:13319574 CACNA1A C>T	19	13319574	13319574	C	T	CACNA1A	c.6794G>A	NM_023035.3	NP_075461.2:p.(Arg2265Gln)	NC_000019.9:g.13319574C>T	VUS	2 labs	e302dfda2d
2:179404950 TTN G>T	2	179404950	179404950	G	T	TTN	c.97943C>A	NM_001267550.2	NP_001254479.2:p.(Thr32648Asn)	NC_000002.11:g.179404950G>T	VUS	2 labs	e3030a68ae
8:1857556 ARHGEF10 G>A	8	1857556	1857556	G	A	ARHGEF10	c.2135G>A	NM_001308153.2	NP_001295082.1:p.(Ser712Asn)	NC_000008.10:g.1857556G>A	(Likely) benign	3 labs	e304885bf7
1:161276555 MPZ T>G	1	161276555	161276555	T	G	MPZ	c.391A>C	NM_000530.8	NP_000521.2:p.(Asn131His)	NC_000001.10:g.161276555T>G	(Likely) pathogenic	2 labs	e312331419
19:15281462 NOTCH3 T>C	19	15281462	15281462	T	C	NOTCH3	c.4891+20A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15281462T>C	(Likely) benign	2 labs	e31543d5bd
1:92728419 GLMN CTTGA>C	1	92728419	92728426	CTTGA	C	GLMN	c.1470_1473del	NM_053274.3	NP_444504.1:p.(Asn490LysfsTer16)	NC_000001.10:g.92728423_92728426del	(Likely) pathogenic	2 labs	e3235818a7
10:123247569 FGFR2 T>C	10	123247569	123247569	T	C	FGFR2	c.1925A>G	NM_022970.3	NP_075259.4:p.(Lys642Arg)	NC_000010.10:g.123247569T>C	(Likely) pathogenic	2 labs	e3250743fe
10:123258109 FGFR2 T>C	10	123258109	123258109	T	C	FGFR2	c.1575A>G	NM_022970.3	NP_075259.4:p.(Thr525=)	NC_000010.10:g.123258109T>C	(Likely) benign	3 labs	e32dd9cea7
7:151262909 PRKAG2 C>T	7	151262909	151262909	C	T	PRKAG2	c.1296G>A	NM_016203.4	NP_057287.2:p.(Thr432=)	NC_000007.13:g.151262909C>T	(Likely) benign	3 labs	e34ab36822
12:91449510 KERA A>G	12	91449510	91449510	A	G	KERA	c.549T>C	NM_007035.4	NP_008966.1:p.(Phe183=)	NC_000012.11:g.91449510A>G	(Likely) benign	2 labs	e34ad930c7
20:746204 SLC52A3 A>T	20	746204	746204	A	T	SLC52A3	c.215T>A	NM_001370086.1	NP_001357015.1:p.(Val72Glu)	NC_000020.10:g.746204A>T	VUS	2 labs	e3571e8e2e
10:13330464 PHYH C>A	10	13330464	13330464	C	A	PHYH	c.274G>T	NM_001037537.2	NP_001032626.1:p.(Ala92Ser)	NC_000010.10:g.13330464C>A	VUS	2 labs	e35b501250
2:200193522 SATB2 G>A	2	200193522	200193522	G	A	SATB2	c.1285C>T	NM_001172509.2	NP_001165980.1:p.(Arg429Ter)	NC_000002.11:g.200193522G>A	(Likely) pathogenic	2 labs	e3658be22d
2:47710081 MSH2 C>T	2	47710081	47710081	C	T	MSH2	c.2798C>T	NM_000251.3	NP_000242.1:p.(Thr933Ile)	NC_000002.11:g.47710081C>T	VUS	2 labs	e369f74729
2:238257013 COL6A3 G>A	2	238257013	238257013	G	A	COL6A3	c.6945C>T	NM_004369.4	NP_004360.2:p.(Phe2315=)	NC_000002.11:g.238257013G>A	(Likely) benign	2 labs	e370022d83
13:110818604 COL4A1 G>A	13	110818604	110818604	G	A	COL4A1	c.3996C>T	NM_001845.6	NP_001836.3:p.(Gly1332=)	NC_000013.10:g.110818604G>A	(Likely) benign	3 labs	e371252233
1:55523855 PCSK9 G>T	1	55523855	55523855	G	T	PCSK9	c.1327G>T	NM_174936.4	NP_777596.2:p.(Ala443Ser)	NC_000001.10:g.55523855G>T	VUS	2 labs	e378d75f52
17:41244280 BRCA1 G>A	17	41244280	41244280	G	A	BRCA1	c.3268C>T	NM_007294.4	NP_009225.1:p.(Gln1090Ter)	NC_000017.10:g.41244280G>A	(Likely) pathogenic	2 labs	e37be50a4c
15:73616504 HCN4 T>C	15	73616504	73616504	T	C	HCN4	c.2069A>G	NM_005477.3	NP_005468.1:p.(Asn690Ser)	NC_000015.9:g.73616504T>C	VUS	2 labs	e37c428f12
17:7917905 GUCY2D C>T	17	7917905	7917905	C	T	GUCY2D	c.2413-14C>T	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7917905C>T	(Likely) benign	2 labs	e387db28b8
2:179560984 TTN A>G	2	179560984	179560984	A	G	TTN	c.30815T>C	NM_001267550.2	NP_001254479.2:p.(Ile10272Thr)	NC_000002.11:g.179560984A>G	VUS	2 labs	e38e278818
2:109380358 RANBP2 G>T	2	109380358	109380358	G	T	RANBP2	c.3363G>T	NM_006267.5	NP_006258.3:p.(Lys1121Asn)	NC_000002.11:g.109380358G>T	(Likely) benign	3 labs	e390e0cf5c
7:128484134 FLNC G>A	7	128484134	128484134	G	A	FLNC	c.3006G>A	NM_001458.5	NP_001449.3:p.(Arg1002=)	NC_000007.13:g.128484134G>A	(Likely) benign	2 labs	e394b752ad
12:133201563 POLE G>A	12	133201563	133201563	G	A	POLE	c.6675C>T	NM_006231.4	NP_006222.2:p.(Arg2225=)	NC_000012.11:g.133201563G>A	(Likely) benign	3 labs	e39510a5e0
5:148407892 SH3TC2 G>A	5	148407892	148407892	G	A	SH3TC2	c.1403C>T	NM_024577.4	NP_078853.2:p.(Ala468Val)	NC_000005.9:g.148407892G>A	(Likely) benign	3 labs	e39638a618
9:34249965 UBAP1 C>T	9	34249965	34249965	C	T	UBAP1	c.1266+6C>T	NM_001171203.3	NP_001164674.1:p.?	NC_000009.11:g.34249965C>T	(Likely) benign	3 labs	e3983f2990
20:10394053 MKKS T>C	20	10394053	10394053	T	C	MKKS	c.110A>G	NM_018848.3	NP_061336.1:p.(Tyr37Cys)	NC_000020.10:g.10394053T>C	(Likely) pathogenic	3 labs	e398614fbe
15:63363291 TPM1 A>G	15	63363291	63363291	A	G	TPM1	c.775A>G	NM_001018004.2	NP_001018004.1:p.(Lys259Glu)	NC_000015.9:g.63363291A>G	(Likely) benign	3 labs	e3aedb6928
7:81643813 CACNA2D1 T>C	7	81643813	81643813	T	C	CACNA2D1	c.1144-18A>G	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81643813T>C	(Likely) benign	2 labs	e3b3fc8c5e
2:179596181 TTN G>C	2	179596181	179596181	G	C	TTN	c.17312C>G	NM_001267550.2	NP_001254479.2:p.(Thr5771Ser)	NC_000002.11:g.179596181G>C	(Likely) benign	4 labs	e3b428c3ae
5:37224707 CPLANE1 T>C	5	37224707	37224707	T	C	CPLANE1	c.2427A>G	NM_023073.4	NP_075561.3:p.(Leu809=)	NC_000005.9:g.37224707T>C	(Likely) benign	2 labs	e3bf4105a9
19:38983180 RYR1 G>T	19	38983180	38983180	G	T	RYR1	c.6178G>T	NM_000540.3	NP_000531.2:p.(Gly2060Cys)	NC_000019.9:g.38983180G>T	(Likely) benign	2 labs	e3d46045fc
7:99704138 AP4M1 G>T	7	99704138	99704138	G	T	AP4M1	c.1137+1G>T	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99704138G>T	(Likely) pathogenic	5 labs	e3e3242071
3:38752407 SCN10A G>A	3	38752407	38752407	G	A	SCN10A	c.4090-19C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38752407G>A	(Likely) benign	2 labs	e3eee616a9
5:90111425 ADGRV1 C>G	5	90111425	90111425	C	G	ADGRV1	c.16079-11C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111425C>G	(Likely) benign	2 labs	e3efb7babb
6:56366402 DST C>G	6	56366402	56366402	C	G	DST	c.13299G>C	NM_001144769.5	NP_001138241.1:p.(Glu4433Asp)	NC_000006.11:g.56366402C>G	VUS	2 labs	e3f3ba0932
2:179528603 TTN G>A	2	179528603	179528603	G	A	TTN	c.36391C>T	NM_001267550.2	NP_001254479.2:p.(Arg12131Cys)	NC_000002.11:g.179528603G>A	VUS	2 labs	e3eb9fa534
2:25384360 POMC G>C	2	25384360	25384360	G	C	POMC	c.394C>G	NM_001035256.3	NP_001030333.1:p.(Pro132Ala)	NC_000002.11:g.25384360G>C	(Likely) benign	2 labs	e408d48567
7:107335087 SLC26A4 A>T	7	107335087	107335087	A	T	SLC26A4	c.1363A>T	NM_000441.2	NP_000432.1:p.(Ile455Phe)	NC_000007.13:g.107335087A>T	(Likely) benign	3 labs	e40ad16abc
1:3342668 PRDM16 C>G	1	3342668	3342668	C	G	PRDM16	c.3163C>G	NM_022114.4	NP_071397.3:p.(Pro1055Ala)	NC_000001.10:g.3342668C>G	VUS	2 labs	e40e82e8e6
4:39233588 WDR19 G>A	4	39233588	39233588	G	A	WDR19	c.2142+12G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39233588G>A	(Likely) benign	2 labs	e41295023f
12:49578980 TUBA1A C>T	12	49578980	49578980	C	T	TUBA1A	c.1169G>A	NM_001270399.2	NP_001257328.1:p.(Arg390His)	NC_000012.11:g.49578980C>T	(Likely) pathogenic	2 labs	e41dda1780
7:117243835 CFTR A>G	7	117243835	117243835	A	G	CFTR	c.2907A>G	NM_000492.4	NP_000483.3:p.(Ala969=)	NC_000007.13:g.117243835A>G	VUS	2 labs	e41ee00890
7:30058726 FKBP14 T>TG	7	30058726	30058731	T	TG	FKBP14	c.362dup	NM_017946.4	NP_060416.1:p.(Glu122ArgfsTer7)	NC_000007.13:g.30058731dup	(Likely) pathogenic	3 labs	e427fd5e83
1:156108336 LMNA G>A	1	156108336	156108336	G	A	LMNA	c.1756G>A	NM_170707.4	NP_733821.1:p.(Val586Met)	NC_000001.10:g.156108336G>A	VUS	2 labs	e431f5bf2d
16:81129800 GCSH C>T	16	81129800	81129800	C	T	GCSH	c.84G>A	NM_004483.5	NP_004474.2:p.(Pro28=)	NC_000016.9:g.81129800C>T	(Likely) benign	3 labs	e4403f83c7
X:110980084 ALG13 C>T	X	110980084	110980084	C	T	ALG13	c.2672C>T	NM_001099922.3	NP_001093392.1:p.(Ser891Phe)	NC_000023.10:g.110980084C>T	(Likely) benign	4 labs	e443913b0b
6:41126472 TREM2 C>T	6	41126472	41126472	C	T	TREM2	c.529G>A	NM_001271821.2	NP_001258750.1:p.(Glu177Lys)	NC_000006.11:g.41126472C>T	(Likely) benign	2 labs	e443e598a4
X:153608111 EMD C>T	X	153608111	153608111	C	T	EMD	c.144C>T	NM_000117.3	NP_000108.1:p.(Leu48=)	NC_000023.10:g.153608111C>T	(Likely) benign	2 labs	e444760b99
5:127624221 FBN2 C>T	5	127624221	127624221	C	T	FBN2	c.6666G>A	NM_001999.4	NP_001990.2:p.(Pro2222=)	NC_000005.9:g.127624221C>T	(Likely) benign	3 labs	e44b3cd85c
2:179592874 TTN T>G	2	179592874	179592874	T	G	TTN	c.19677A>C	NM_001267550.2	NP_001254479.2:p.(Ala6559=)	NC_000002.11:g.179592874T>G	(Likely) benign	5 labs	e4518de037
2:179458924 TTN C>T	2	179458924	179458924	C	T	TTN	c.53273G>A	NM_001256850.1	NP_001243779.1:p.(Arg17758Gln)	NC_000002.11:g.179458924C>T	VUS	2 labs	e45d81aaba
18:28648071 DSC2 G>A	18	28648071	28648071	G	A	DSC2	c.2616C>T	NM_024422.6	NP_077740.1:p.(Cys872=)	NC_000018.9:g.28648071G>A	(Likely) benign	4 labs	e471c5a099
4:6303724 WFS1 C>T	4	6303724	6303724	C	T	WFS1	c.2202C>T	NM_006005.3	NP_005996.2:p.(Leu734=)	NC_000004.11:g.6303724C>T	(Likely) benign	3 labs	e464236147
16:88804349 PIEZO1 G>T	16	88804349	88804349	G	T	PIEZO1	c.1013C>A	NM_001142864.4	NP_001136336.2:p.(Ser338Tyr)	NC_000016.9:g.88804349G>T	(Likely) benign	2 labs	e4655c3c60
1:235827875 LYST G>A	1	235827875	235827875	G	A	LYST	c.11085C>T	NM_001301365.1	NP_001288294.1:p.(Leu3695=)	NC_000001.10:g.235827875G>A	(Likely) benign	2 labs	e47790c7ff
3:170198367 SLC7A14 G>A	3	170198367	170198367	G	A	SLC7A14	c.1704C>T	NM_020949.3	NP_066000.2:p.(Cys568=)	NC_000003.11:g.170198367G>A	(Likely) benign	2 labs	e478ae2da9
10:69934317 MYPN T>C	10	69934317	69934317	T	C	MYPN	c.2468T>C	NM_032578.4	NP_115967.2:p.(Ile823Thr)	NC_000010.10:g.69934317T>C	VUS	2 labs	e47b278a8b
1:20417080 PLA2G5 T>C	1	20417080	20417080	T	C	PLA2G5	c.312T>C	NM_000929.3	NP_000920.1:p.(His104=)	NC_000001.10:g.20417080T>C	(Likely) benign	2 labs	e486cedee9
17:41276247 BRCA1 A>G	17	41276247	41276247	A	G	BRCA1	c.-19-115T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276247A>G	(Likely) benign	3 labs	e48a8048e1
22:29876272 NEFH G>A	22	29876272	29876272	G	A	NEFH	c.21G>A	NM_021076.4	NP_066554.2:p.(Ala7=)	NC_000022.10:g.29876272G>A	(Likely) benign	2 labs	e48ce4cb49
10:72358333 PRF1 G>A	10	72358333	72358333	G	A	PRF1	c.1144C>T	NM_001083116.3	NP_001076585.1:p.(Pro382Ser)	NC_000010.10:g.72358333G>A	VUS	2 labs	e493e68540
12:122242660 SETD1B C>A	12	122242660	122242660	C	A	SETD1B	c.17C>A	NM_001353345.2	NP_001340274.1:p.(Pro6His)	NC_000012.11:g.122242660C>A	(Likely) benign	2 labs	e4a058dc2d
1:6534519 PLEKHG5 C>A	1	6534519	6534519	C	A	PLEKHG5	c.431G>T	NM_198681.4	NP_941374.3:p.(Arg144Leu)	NC_000001.10:g.6534519C>A	VUS	2 labs	e4a14f207c
12:110226379 TRPV4 G>A	12	110226379	110226379	G	A	TRPV4	c.2034C>T	NM_021625.5	NP_067638.3:p.(Ile678=)	NC_000012.11:g.110226379G>A	(Likely) benign	3 labs	e4a3484400
1:103471456 COL11A1 CCAT>C	1	103471456	103471488	CCAT	C	COL11A1	c.1828-12_1828-10del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103471486_103471488del	(Likely) benign	2 labs	e4b3b29af3
7:128487893 FLNC G>A	7	128487893	128487893	G	A	FLNC	c.4431G>A	NM_001458.5	NP_001449.3:p.(Leu1477=)	NC_000007.13:g.128487893G>A	(Likely) benign	2 labs	e4ba0c2cb9
5:178418946 GRM6 A>G	5	178418946	178418946	A	G	GRM6	c.643T>C	NM_000843.4	NP_000834.2:p.(Tyr215His)	NC_000005.9:g.178418946A>G	VUS	2 labs	e4bc27d036
16:57938630 CNGB1 C>T	16	57938630	57938630	C	T	CNGB1	c.2634+8G>A	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57938630C>T	(Likely) benign	2 labs	e4c3a6ae39
2:219679475 CYP27A1 G>T	2	219679475	219679475	G	T	CYP27A1	c.1471G>T	NM_000784.4	NP_000775.1:p.(Ala491Ser)	NC_000002.11:g.219679475G>T	(Likely) benign	5 labs	e4d40ec2a1
14:73673178 PSEN1 A>G	14	73673178	73673178	A	G	PSEN1	c.953A>G	NM_000021.4	NP_000012.1:p.(Glu318Gly)	NC_000014.8:g.73673178A>G	(Likely) benign	2 labs	e4c884def7
12:52308344 ACVRL1 G>A	12	52308344	52308344	G	A	ACVRL1	c.747G>A	NM_000020.3	NP_000011.2:p.(Val249=)	NC_000012.11:g.52308344G>A	(Likely) benign	2 labs	e4cffdefa7
1:237868510 RYR2 T>C	1	237868510	237868510	T	C	RYR2	c.9450-3T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237868510T>C	(Likely) benign	3 labs	e4e6ae37f8
7:81679904 CACNA2D1 T>A	7	81679904	81679904	T	A	CACNA2D1	c.920A>T	NM_001302890.2	NP_001289819.1:p.(Asn307Ile)	NC_000007.13:g.81679904T>A	(Likely) benign	2 labs	e4e7412bd9
7:44104754 PGAM2 C>T	7	44104754	44104754	C	T	PGAM2	c.375G>A	NM_000290.4	NP_000281.2:p.(Pro125=)	NC_000007.13:g.44104754C>T	(Likely) benign	2 labs	e4ea310d23
18:21166329 NPC1 T>G	18	21166329	21166329	T	G	NPC1	c.-22A>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21166329T>G	(Likely) benign	2 labs	e4efe37d21
14:23858271 MYH6 A>C	14	23858271	23858271	A	C	MYH6	c.3979-7T>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271A>C	(Likely) benign	2 labs	e500b7e6dd
16:23647102 PALB2 A>G	16	23647102	23647102	A	G	PALB2	c.765T>C	NM_024675.4	NP_078951.2:p.(Asp255=)	NC_000016.9:g.23647102A>G	(Likely) benign	4 labs	e50c084c46
X:32381049 DMD T>A	X	32381049	32381049	T	A	DMD	c.4812A>T	NM_004010.3	NP_004001.1:p.(Ile1604=)	NC_000023.10:g.32381049T>A	(Likely) benign	3 labs	e5136d3ce3
8:134108614 TG G>A	8	134108614	134108614	G	A	TG	c.7569G>A	NM_003235.5	NP_003226.4:p.(Val2523=)	NC_000008.10:g.134108614G>A	(Likely) benign	2 labs	e521c8fb25
14:102458028 DYNC1H1 C>T	14	102458028	102458028	C	T	DYNC1H1	c.3015+18C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102458028C>T	(Likely) benign	3 labs	e5168e6ccd
6:7571821 DSP G>A	6	7571821	7571821	G	A	DSP	c.1903+4G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571821G>A	(Likely) benign	2 labs	e529e2a030
6:32063959 TNXB G>A	6	32063959	32063959	G	A	TNXB	c.1671C>T	NM_019105.8	NP_061978.6:p.(Arg557=)	NC_000006.11:g.32063959G>A	(Likely) benign	2 labs	e530701d59
19:55665477 TNNI3 G>A	19	55665477	55665477	G	A	TNNI3	c.470C>T	NM_000363.5	NP_000354.4:p.(Ala157Val)	NC_000019.9:g.55665477G>A	(Likely) pathogenic	3 labs	e53bac830b
2:179476673 TTN A>G	2	179476673	179476673	A	G	TTN	c.50363T>C	NM_001267550.2	NP_001254479.2:p.(Ile16788Thr)	NC_000002.11:g.179476673A>G	(Likely) benign	2 labs	e53c58c3ee
1:40773149 COL9A2 T>C	1	40773149	40773149	T	C	COL9A2	c.977A>G	NM_001852.4	NP_001843.1:p.(Gln326Arg)	NC_000001.10:g.40773149T>C	(Likely) benign	3 labs	e53e43b546
10:73570333 CDH23 C>T	10	73570333	73570333	C	T	CDH23	c.9077+7C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73570333C>T	(Likely) benign	2 labs	e54d818121
8:22067106 BMP1 C>T	8	22067106	22067106	C	T	BMP1	c.2724C>T	NM_006129.5	NP_006120.1:p.(Thr908=)	NC_000008.10:g.22067106C>T	(Likely) benign	2 labs	e556a2c2a5
1:236914817 ACTN2 G>A	1	236914817	236914817	G	A	ACTN2	c.1080G>A	NM_001278344.2	NP_001265273.1:p.(Ala360=)	NC_000001.10:g.236914817G>A	(Likely) benign	2 labs	e558f707e2
16:84065476 SLC38A8 G>C	16	84065476	84065476	G	C	SLC38A8	c.628C>G	NM_001080442.3	NP_001073911.1:p.(Leu210Val)	NC_000016.9:g.84065476G>C	(Likely) benign	2 labs	e5590dcde0
1:236881155 ACTN2 C>A	1	236881155	236881155	C	A	ACTN2	c.-695-3C>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236881155C>A	(Likely) benign	2 labs	e55aa92668
6:42946076 PEX6 C>A	6	42946076	42946076	C	A	PEX6	c.813G>T	NM_000287.4	NP_000278.3:p.(Ala271=)	NC_000006.11:g.42946076C>A	(Likely) benign	2 labs	e5627904cf
1:94486896 ABCA4 G>A	1	94486896	94486896	G	A	ABCA4	c.4918C>T	NM_000350.3	NP_000341.2:p.(Arg1640Trp)	NC_000001.10:g.94486896G>A	(Likely) pathogenic	2 labs	e569055574
18:50589751 DCC C>T	18	50589751	50589751	C	T	DCC	c.1062C>T	NM_005215.4	NP_005206.2:p.(Val354=)	NC_000018.9:g.50589751C>T	(Likely) benign	2 labs	e5713bb958
6:6318921 F13A1 G>GA	6	6318921	6318935	G	GA	F13A1	c.-18-7dup	NM_000129.4	NP_000120.2:p.?	NC_000006.11:g.6318935dup	(Likely) benign	2 labs	e579810c37
9:95526955 BICD2 G>C	9	95526955	95526955	G	C	BICD2	c.72C>G	NM_001003800.2	NP_001003800.1:p.(Ala24=)	NC_000009.11:g.95526955G>C	(Likely) benign	2 labs	e579d37342
2:179393558 TTN C>T	2	179393558	179393558	C	T	TTN	c.106920G>A	NM_001267550.2	NP_001254479.2:p.(Leu35640=)	NC_000002.11:g.179393558C>T	(Likely) benign	3 labs	e57c71be70
19:10250361 DNMT1 G>A	19	10250361	10250361	G	A	DNMT1	c.3939C>T	NM_001130823.3	NP_001124295.1:p.(Gly1313=)	NC_000019.9:g.10250361G>A	(Likely) benign	2 labs	e57faa7a0e
3:132226100 DNAJC13 A>G	3	132226100	132226100	A	G	DNAJC13	c.5018A>G	NM_015268.4	NP_056083.3:p.(Tyr1673Cys)	NC_000003.11:g.132226100A>G	(Likely) benign	2 labs	e581116c34
17:41197829 BRCA1 G>T	17	41197829	41197829	G	T	BRCA1	c.5468-10C>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197829G>T	(Likely) benign	6 labs	e591d96922
2:179402104 TTN C>T	2	179402104	179402104	C	T	TTN	c.99830G>A	NM_001267550.2	NP_001254479.2:p.(Gly33277Glu)	NC_000002.11:g.179402104C>T	(Likely) benign	3 labs	e593cfa94b
1:94476991 ABCA4 CT>C	1	94476991	94476992	CT	C	ABCA4	c.5461-51del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476992del	(Likely) benign	2 labs	e59db91dae
2:215661812 BARD1 A>T	2	215661812	215661812	A	T	BARD1	c.188T>A	NM_000465.4	NP_000456.2:p.(Leu63Ter)	NC_000002.11:g.215661812A>T	(Likely) pathogenic	2 labs	e5a386f435
1:92763018 GLMN G>T	1	92763018	92763018	G	T	GLMN	c.108C>A	NM_053274.3	NP_444504.1:p.(Cys36Ter)	NC_000001.10:g.92763018G>T	(Likely) pathogenic	2 labs	e5a553a533
9:135205327 SETX G>A	9	135205327	135205327	G	A	SETX	c.1658C>T	NM_015046.7	NP_055861.3:p.(Ser553Phe)	NC_000009.11:g.135205327G>A	VUS	2 labs	e5add8d125
15:31334454 TRPM1 G>C	15	31334454	31334454	G	C	TRPM1	c.1846-8C>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31334454G>C	(Likely) benign	2 labs	e5b5a1da08
16:74808425 FA2H G>A	16	74808425	74808425	G	A	FA2H	c.229C>T	NM_024306.5	NP_077282.3:p.(Leu77=)	NC_000016.9:g.74808425G>A	(Likely) benign	3 labs	e5bbdf3b48
10:68138987 CTNNA3 G>A	10	68138987	68138987	G	A	CTNNA3	c.1655C>T	NM_013266.4	NP_037398.2:p.(Thr552Met)	NC_000010.10:g.68138987G>A	(Likely) benign	4 labs	e5bd7eac04
X:153648063 TAFAZZIN C>T	X	153648063	153648063	C	T	TAFAZZIN	c.561C>T	NM_000116.5	NP_000107.1:p.(Ser187=)	NC_000023.10:g.153648063C>T	(Likely) benign	2 labs	e5bf9205c4
7:91708935 AKAP9 T>G	7	91708935	91708935	T	G	AKAP9	c.7488T>G	NM_005751.5	NP_005742.4:p.(Asn2496Lys)	NC_000007.13:g.91708935T>G	(Likely) benign	3 labs	e5c538e64c
1:161332203 SDHC A>T	1	161332203	161332203	A	T	SDHC	c.490A>T	NM_003001.5	NP_002992.1:p.(Met164Leu)	NC_000001.10:g.161332203A>T	(Likely) benign	2 labs	e5da257608
14:68244906 ZFYVE26 G>A	14	68244906	68244906	G	A	ZFYVE26	c.4734C>T	NM_015346.4	NP_056161.2:p.(Ile1578=)	NC_000014.8:g.68244906G>A	(Likely) benign	3 labs	e5dbb456d4
3:123419288 MYLK C>T	3	123419288	123419288	C	T	MYLK	c.3027G>A	NM_053025.4	NP_444253.3:p.(Glu1009=)	NC_000003.11:g.123419288C>T	(Likely) benign	2 labs	e5e189aebc
2:179644788 TTN G>A	2	179644788	179644788	G	A	TTN	c.3668C>T	NM_001267550.2	NP_001254479.2:p.(Ala1223Val)	NC_000002.11:g.179644788G>A	(Likely) benign	3 labs	e5e4c84f11
17:7751858 KDM6B TCAC>T	17	7751858	7751891	TCAC	T	KDM6B	c.2283_2285del	NM_001080424.2	NP_001073893.1:p.(Thr762del)	NC_000017.10:g.7751889_7751891del	(Likely) benign	3 labs	e5e90e8514
3:38597959 SCN5A A>T	3	38597959	38597959	A	T	SCN5A	c.4410T>A	NM_198056.3	NP_932173.1:p.(Ile1470=)	NC_000003.11:g.38597959A>T	VUS	2 labs	e5f811a289
5:73142296 ARHGEF28 C>T	5	73142296	73142296	C	T	ARHGEF28	c.1631C>T	NM_001080479.3	NP_001073948.2:p.(Ser544Leu)	NC_000005.9:g.73142296C>T	(Likely) benign	2 labs	e5f9e0dcd2
10:69959259 MYPN C>T	10	69959259	69959259	C	T	MYPN	c.2538C>T	NM_001256268.2	NP_001243197.1:p.(Asp846=)	NC_000010.10:g.69959259C>T	(Likely) benign	2 labs	e5fabf2c7e
9:137701143 COL5A1 C>T	9	137701143	137701143	C	T	COL5A1	c.3474+7C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137701143C>T	(Likely) benign	3 labs	e60d8b18ce
4:126336337 FAT4 A>G	4	126336337	126336337	A	G	FAT4	c.6219A>G	NM_001291303.3	NP_001278232.1:p.(Gln2073=)	NC_000004.11:g.126336337A>G	(Likely) benign	3 labs	e60ddf5e0b
10:96081690 PLCE1 CAA>C	10	96081690	96081693	CAA	C	PLCE1	c.6377_6378del	NM_016341.4	NP_057425.3:p.(Lys2126ArgfsTer17)	NC_000010.10:g.96081692_96081693del	(Likely) pathogenic	2 labs	e614fa66de
5:138223174 CTNNA1 A>G	5	138223174	138223174	A	G	CTNNA1	c.1144-5A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138223174A>G	(Likely) benign	2 labs	e6152caf21
13:32931931 BRCA2 CAG>C	13	32931931	32931935	CAG	C	BRCA2	c.7673_7674del	NM_000059.4	NP_000050.3:p.(Glu2558ValfsTer7)	NC_000013.10:g.32931934_32931935del	(Likely) pathogenic	2 labs	e61e95520d
12:133201524 POLE G>A	12	133201524	133201524	G	A	POLE	c.6714C>T	NM_006231.4	NP_006222.2:p.(Cys2238=)	NC_000012.11:g.133201524G>A	(Likely) benign	2 labs	e627496d33
2:179642583 TTN A>G	2	179642583	179642583	A	G	TTN	c.4328T>C	NM_001267550.2	NP_001254479.2:p.(Leu1443Pro)	NC_000002.11:g.179642583A>G	(Likely) benign	2 labs	e62f46d4ff
1:213058700 FLVCR1 T>G	1	213058700	213058700	T	G	FLVCR1	c.1158T>G	NM_014053.4	NP_054772.1:p.(Ile386Met)	NC_000001.10:g.213058700T>G	VUS	2 labs	e62f77ccbd
6:56716410 DST G>T	6	56716410	56716410	G	T	DST	c.418-8C>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56716410G>T	(Likely) benign	2 labs	e64ad7a7f0
3:14175290 TMEM43 C>T	3	14175290	14175290	C	T	TMEM43	c.564C>T	NM_024334.3	NP_077310.1:p.(Gly188=)	NC_000003.11:g.14175290C>T	(Likely) benign	2 labs	e65d407f27
19:2116280 AP3D1 G>A	19	2116280	2116280	G	A	AP3D1	c.2002-3C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2116280G>A	(Likely) benign	2 labs	e66905a66c
2:220285326 DES A>G	2	220285326	220285326	A	G	DES	c.845A>G	NM_001927.4	NP_001918.3:p.(Glu282Gly)	NC_000002.11:g.220285326A>G	VUS	2 labs	e66b228016
1:78392490 NEXN A>G	1	78392490	78392490	A	G	NEXN	c.777A>G	NM_144573.4	NP_653174.3:p.(Gln259=)	NC_000001.10:g.78392490A>G	(Likely) benign	2 labs	e677d67128
1:237957309 RYR2 A>C	1	237957309	237957309	A	C	RYR2	c.13913+12A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237957309A>C	(Likely) benign	3 labs	e67d47df11
11:44129526 EXT2 C>T	11	44129526	44129526	C	T	EXT2	c.363C>T	NM_000401.3	NP_000392.3:p.(His121=)	NC_000011.9:g.44129526C>T	(Likely) benign	3 labs	e67fff8fa4
14:76349049 TTLL5 C>T	14	76349049	76349049	C	T	TTLL5	c.3544C>T	NM_015072.5	NP_055887.3:p.(Leu1182=)	NC_000014.8:g.76349049C>T	(Likely) benign	2 labs	e6894385de
3:38655296 SCN5A T>C	3	38655296	38655296	T	C	SCN5A	c.641A>G	NM_198056.3	NP_932173.1:p.(Asn214Ser)	NC_000003.11:g.38655296T>C	VUS	2 labs	e68bd0b589
16:2134723 TSC2 C>A	16	2134723	2134723	C	A	TSC2	c.4493+7C>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134723C>A	(Likely) benign	2 labs	e6922dc8f2
1:3342611 PRDM16 G>A	1	3342611	3342611	G	A	PRDM16	c.3110-4G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342611G>A	(Likely) benign	3 labs	e69f9c108e
1:20960230 PINK1 C>T	1	20960230	20960230	C	T	PINK1	c.189C>T	NM_032409.3	NP_115785.1:p.(Leu63=)	NC_000001.10:g.20960230C>T	(Likely) benign	2 labs	e6a525185e
11:61730325 BEST1 C>T	11	61730325	61730325	C	T	BEST1	c.1699C>T	NM_004183.4	NP_004174.1:p.(Leu567Phe)	NC_000011.9:g.61730325C>T	(Likely) benign	2 labs	e6a88a48e6
9:98220583 PTCH1 G>A	9	98220583	98220583	G	A	PTCH1	c.2888-8C>T	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98220583G>A	(Likely) benign	2 labs	e6b218fb2f
15:91352443 BLM G>A	15	91352443	91352443	G	A	BLM	c.3828G>A	NM_000057.4	NP_000048.1:p.(Ala1276=)	NC_000015.9:g.91352443G>A	(Likely) benign	2 labs	e6c643747c
13:39262057 FREM2 G>A	13	39262057	39262057	G	A	FREM2	c.576G>A	NM_207361.6	NP_997244.4:p.(Glu192=)	NC_000013.10:g.39262057G>A	(Likely) benign	3 labs	e6d97c9780
12:21919139 KCNJ8 A>G	12	21919139	21919139	A	G	KCNJ8	c.793T>C	NM_004982.4	NP_004973.1:p.(Leu265=)	NC_000012.11:g.21919139A>G	(Likely) benign	2 labs	e6ec24102e
13:32914904 BRCA2 G>T	13	32914904	32914904	G	T	BRCA2	c.6412G>T	NM_000059.4	NP_000050.3:p.(Val2138Phe)	NC_000013.10:g.32914904G>T	(Likely) benign	6 labs	e6f3388fee
5:131944889 RAD50 C>T	5	131944889	131944889	C	T	RAD50	c.2910C>T	NM_005732.4	NP_005723.2:p.(Asp970=)	NC_000005.9:g.131944889C>T	(Likely) benign	2 labs	e702c8a2c9
14:50626657 SOS2 C>T	14	50626657	50626657	C	T	SOS2	c.1344G>A	NM_006939.4	NP_008870.2:p.(Leu448=)	NC_000014.8:g.50626657C>T	(Likely) benign	2 labs	e705828f7c
16:88786314 PIEZO1 G>A	16	88786314	88786314	G	A	PIEZO1	c.6219C>T	NM_001142864.4	NP_001136336.2:p.(Tyr2073=)	NC_000016.9:g.88786314G>A	(Likely) benign	2 labs	e70850ee98
20:3869884 PANK2 A>T	20	3869884	3869884	A	T	PANK2	c.137A>T	NM_153638.4	NP_705902.2:p.(Asp46Val)	NC_000020.10:g.3869884A>T	(Likely) benign	2 labs	e710e8356a
2:112740535 MERTK C>T	2	112740535	112740535	C	T	MERTK	c.1261C>T	NM_006343.3	NP_006334.2:p.(Arg421Trp)	NC_000002.11:g.112740535C>T	VUS	2 labs	e71de348c7
1:22183650 HSPG2 G>A	1	22183650	22183650	G	A	HSPG2	c.5436C>T	NM_001291860.2	NP_001278789.1:p.(Asn1812=)	NC_000001.10:g.22183650G>A	(Likely) benign	3 labs	e71ec3772b
10:94399556 KIF11 T>G	10	94399556	94399556	T	G	KIF11	c.2166T>G	NM_004523.4	NP_004514.2:p.(Leu722=)	NC_000010.10:g.94399556T>G	(Likely) benign	2 labs	e726dc8c87
15:31218067 FAN1 G>A	15	31218067	31218067	G	A	FAN1	c.2413G>A	NM_014967.5	NP_055782.3:p.(Ala805Thr)	NC_000015.9:g.31218067G>A	(Likely) benign	2 labs	e73138adea
22:50885795 SBF1 T>C	22	50885795	50885795	T	C	SBF1	c.5539A>G	NM_002972.4	NP_002963.2:p.(Thr1847Ala)	NC_000022.10:g.50885795T>C	(Likely) benign	2 labs	e73b5aa7cb
3:148885779 HPS3 A>AT	3	148885779	148885789	A	AT	HPS3	c.2887+19dup	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148885789dup	(Likely) benign	2 labs	e73f1e1eb6
11:121457048 SORL1 T>G	11	121457048	121457048	T	G	SORL1	c.3814+10T>G	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121457048T>G	(Likely) benign	2 labs	e741e68f8b
19:1037856 CNN2 T>C	19	1037856	1037856	T	C	CNN2	c.887T>C	NM_004368.4	NP_004359.1:p.(Val296Ala)	NC_000019.9:g.1037856T>C	(Likely) benign	2 labs	e7515e1625
10:55566671 PCDH15 G>A	10	55566671	55566671	G	A	PCDH15	c.4717C>T	NM_001142771.2	NP_001136243.1:p.(Leu1573=)	NC_000010.10:g.55566671G>A	(Likely) benign	2 labs	e757e3e062
16:88800139 PIEZO1 C>T	16	88800139	88800139	C	T	PIEZO1	c.2344G>A	NM_001142864.4	NP_001136336.2:p.(Gly782Ser)	NC_000016.9:g.88800139C>T	(Likely) benign	3 labs	e7593d4e13
8:27321471 CHRNA2 G>A	8	27321471	27321471	G	A	CHRNA2	c.489C>T	NM_000742.4	NP_000733.2:p.(Ala163=)	NC_000008.10:g.27321471G>A	(Likely) benign	2 labs	e75dd13284
10:73768040 CHST3 G>C	10	73768040	73768040	G	C	CHST3	c.1251G>C	NM_004273.5	NP_004264.2:p.(Thr417=)	NC_000010.10:g.73768040G>C	(Likely) benign	2 labs	e75fd1b273
2:179442078 TTN T>G	2	179442078	179442078	T	G	TTN	c.68984A>C	NM_001267550.2	NP_001254479.2:p.(Gln22995Pro)	NC_000002.11:g.179442078T>G	VUS	2 labs	e7740e75ee
16:16276664 ABCC6 G>A	16	16276664	16276664	G	A	ABCC6	c.2067C>T	NM_001171.6	NP_001162.5:p.(Ile689=)	NC_000016.9:g.16276664G>A	(Likely) benign	2 labs	e77e2bd2d5
1:237729922 RYR2 C>T	1	237729922	237729922	C	T	RYR2	c.3270C>T	NM_001035.3	NP_001026.2:p.(Ala1090=)	NC_000001.10:g.237729922C>T	(Likely) benign	2 labs	e782b7ab68
X:153609158 EMD G>C	X	153609158	153609158	G	C	EMD	c.445G>C	NM_000117.3	NP_000108.1:p.(Asp149His)	NC_000023.10:g.153609158G>C	(Likely) benign	3 labs	e78eb31d16
9:135802570 TSC1 T>C	9	135802570	135802570	T	C	TSC1	c.210+18A>G	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135802570T>C	(Likely) benign	3 labs	e79831c27f
16:2110805 TSC2 G>A	16	2110805	2110805	G	A	TSC2	c.1110G>A	NM_000548.5	NP_000539.2:p.(Gln370=)	NC_000016.9:g.2110805G>A	(Likely) benign	2 labs	e79c54d4db
4:6279407 WFS1 C>T	4	6279407	6279407	C	T	WFS1	c.225C>T	NM_006005.3	NP_005996.2:p.(Asp75=)	NC_000004.11:g.6279407C>T	(Likely) benign	2 labs	e79d3db987
19:12772165 MAN2B1 G>T	19	12772165	12772165	G	T	MAN2B1	c.935C>A	NM_000528.4	NP_000519.2:p.(Thr312Asn)	NC_000019.9:g.12772165G>T	(Likely) benign	2 labs	e7a5c14baa
14:68157971 RDH11 C>T	14	68157971	68157971	C	T	RDH11	c.350-10G>A	NM_016026.4	NP_057110.3:p.?	NC_000014.8:g.68157971C>T	(Likely) benign	2 labs	e7a844cf76
11:68157454 LRP5 C>T	11	68157454	68157454	C	T	LRP5	c.1518C>T	NM_002335.4	NP_002326.2:p.(Asn506=)	NC_000011.9:g.68157454C>T	(Likely) benign	3 labs	e7b477f3ca
6:42689824 PRPH2 G>A	6	42689824	42689824	G	A	PRPH2	c.249C>T	NM_000322.5	NP_000313.2:p.(Tyr83=)	NC_000006.11:g.42689824G>A	(Likely) benign	2 labs	e7b98b62ca
5:127863579 FBN2 G>A	5	127863579	127863579	G	A	FBN2	c.518C>T	NM_001999.4	NP_001990.2:p.(Thr173Ile)	NC_000005.9:g.127863579G>A	(Likely) benign	3 labs	e7bc925bb7
12:48369754 COL2A1 C>T	12	48369754	48369754	C	T	COL2A1	c.3589G>A	NM_001844.5	NP_001835.3:p.(Gly1197Ser)	NC_000012.11:g.48369754C>T	(Likely) pathogenic	2 labs	e7c68b522c
16:88504206 ZNF469 G>C	16	88504206	88504206	G	C	ZNF469	c.10328G>C	NM_001367624.2	NP_001354553.1:p.(Gly3443Ala)	NC_000016.9:g.88504206G>C	(Likely) benign	2 labs	e7d9891e27
16:15815456 MYH11 G>A	16	15815456	15815456	G	A	MYH11	c.4422C>T	NM_001040113.2	NP_001035202.1:p.(Tyr1474=)	NC_000016.9:g.15815456G>A	(Likely) benign	2 labs	e7e6924eb3
7:103230280 RELN T>TA	7	103230280	103230284	T	TA	RELN	c.3913-6dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103230284dup	(Likely) benign	2 labs	e7e85a7dd6
5:38528951 LIFR GACAC>G	5	38528951	38528980	GACAC	G	LIFR	c.143-13_143-10del	NM_001364297.2	NP_001351226.1:p.?	NC_000005.9:g.38528977_38528980del	(Likely) benign	3 labs	e7ea770c7b
13:32890572 BRCA2 G>A	13	32890572	32890572	G	A	BRCA2	c.-26G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890572G>A	(Likely) benign	5 labs	e7eff03eed
17:6328998 AIPL1 C>A	17	6328998	6328998	C	A	AIPL1	c.937G>T	NM_014336.5	NP_055151.3:p.(Ala313Ser)	NC_000017.10:g.6328998C>A	(Likely) benign	2 labs	e7fd74b903
1:46657769 POMGNT1 C>T	1	46657769	46657769	C	T	POMGNT1	c.1539+1G>A	NM_001243766.1	NP_001230695.1:p.?	NC_000001.10:g.46657769C>T	(Likely) pathogenic	4 labs	e80a84f909
11:108098445 ATM A>T	11	108098445	108098445	A	T	ATM	c.72+22A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098445A>T	(Likely) benign	3 labs	e8174968d2
5:127744469 FBN2 G>A	5	127744469	127744469	G	A	FBN2	c.976C>T	NM_001999.4	NP_001990.2:p.(Pro326Ser)	NC_000005.9:g.127744469G>A	(Likely) benign	4 labs	e8194b2bf9
1:103400077 COL11A1 C>T	1	103400077	103400077	C	T	COL11A1	c.3564G>A	NM_080629.3	NP_542196.2:p.(Gln1188=)	NC_000001.10:g.103400077C>T	(Likely) benign	2 labs	e81a3175b4
17:65907914 BPTF A>G	17	65907914	65907914	A	G	BPTF	c.4292A>G	NM_004459.7	NP_004450.3:p.(Asp1431Gly)	NC_000017.10:g.65907914A>G	(Likely) benign	3 labs	e81dcaadd3
8:100880701 VPS13B G>A	8	100880701	100880701	G	A	VPS13B	c.11467+8G>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100880701G>A	(Likely) benign	3 labs	e8240cbe7e
2:1670102 PXDN G>A	2	1670102	1670102	G	A	PXDN	c.1175C>T	NM_012293.3	NP_036425.1:p.(Thr392Met)	NC_000002.11:g.1670102G>A	VUS	2 labs	e824252cc9
16:81934281 PLCG2 G>A	16	81934281	81934281	G	A	PLCG2	c.1258G>A	NM_002661.5	NP_002652.2:p.(Ala420Thr)	NC_000016.9:g.81934281G>A	(Likely) benign	2 labs	e829af218e
9:136404884 ADAMTSL2 G>A	9	136404884	136404884	G	A	ADAMTSL2	c.310-9G>A	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136404884G>A	(Likely) benign	3 labs	e82dbbf024
22:38539226 PLA2G6 C>G	22	38539226	38539226	C	G	PLA2G6	c.495G>C	NM_003560.4	NP_003551.2:p.(Gly165=)	NC_000022.10:g.38539226C>G	(Likely) benign	2 labs	e82e6b6d2d
11:119169078 CBL T>G	11	119169078	119169078	T	G	CBL	c.2262T>G	NM_005188.4	NP_005179.2:p.(Asn754Lys)	NC_000011.9:g.119169078T>G	(Likely) benign	3 labs	e839dd1475
15:89761811 RLBP1 G>A	15	89761811	89761811	G	A	RLBP1	c.126C>T	NM_000326.5	NP_000317.1:p.(Arg42=)	NC_000015.9:g.89761811G>A	(Likely) benign	2 labs	e83ea70d44
4:36345345 DTHD1 C>T	4	36345345	36345345	C	T	DTHD1	c.2620C>T	NM_001170700.3	NP_001164171.2:p.(Arg874Cys)	NC_000004.11:g.36345345C>T	VUS	2 labs	e841ace759
X:153609141 EMD C>T	X	153609141	153609141	C	T	EMD	c.428C>T	NM_000117.3	NP_000108.1:p.(Ser143Phe)	NC_000023.10:g.153609141C>T	(Likely) benign	3 labs	e845e3b8cb
5:76722343 PDE8B A>G	5	76722343	76722343	A	G	PDE8B	c.2622A>G	NM_003719.5	NP_003710.1:p.(Leu874=)	NC_000005.9:g.76722343A>G	(Likely) benign	2 labs	e84a245342
X:148584830 IDS A>G	X	148584830	148584830	A	G	IDS	c.418+12T>C	NM_000202.8	NP_000193.1:p.?	NC_000023.10:g.148584830A>G	(Likely) benign	3 labs	e8506eb394
3:189690823 P3H2 A>C	3	189690823	189690823	A	C	P3H2	c.1549-10T>G	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189690823A>C	(Likely) benign	2 labs	e855cb07d5
18:77474797 CTDP1 C>T	18	77474797	77474797	C	T	CTDP1	c.1337C>T	NM_048368.4	NP_430255.2:p.(Thr446Met)	NC_000018.9:g.77474797C>T	VUS	2 labs	e85b17fd0c
15:48725097 FBN1 T>G	15	48725097	48725097	T	G	FBN1	c.6705A>C	NM_000138.5	NP_000129.3:p.(Gly2235=)	NC_000015.9:g.48725097T>G	(Likely) benign	3 labs	e8675a86d8
5:89949171 ADGRV1 A>G	5	89949171	89949171	A	G	ADGRV1	c.3780A>G	NM_032119.4	NP_115495.3:p.(Glu1260=)	NC_000005.9:g.89949171A>G	(Likely) benign	2 labs	e86a706594
15:48722905 FBN1 G>A	15	48722905	48722905	G	A	FBN1	c.6834C>T	NM_000138.5	NP_000129.3:p.(Pro2278=)	NC_000015.9:g.48722905G>A	(Likely) benign	2 labs	e86ae93fa2
10:75863558 VCL A>G	10	75863558	75863558	A	G	VCL	c.2023-20A>G	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75863558A>G	(Likely) benign	4 labs	e86fc0f6a5
19:2123881 AP3D1 G>A	19	2123881	2123881	G	A	AP3D1	c.857-3C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2123881G>A	(Likely) benign	2 labs	e87230056c
1:215848119 USH2A C>A	1	215848119	215848119	C	A	USH2A	c.13134G>T	NM_206933.4	NP_996816.3:p.(Pro4378=)	NC_000001.10:g.215848119C>A	(Likely) benign	2 labs	e88619b31a
21:34927287 SON CAGTT>C	21	34927287	34927293	CAGTT	C	SON	c.5753_5756del	NM_138927.4	NP_620305.3:p.(Val1918GlufsTer87)	NC_000021.8:g.34927290_34927293del	(Likely) pathogenic	3 labs	e89cc571fb
X:49088292 CACNA1F C>T	X	49088292	49088292	C	T	CACNA1F	c.123G>A	NM_005183.4	NP_005174.2:p.(Gly41=)	NC_000023.10:g.49088292C>T	(Likely) benign	3 labs	e8a1d0d860
8:94809185 TMEM67 C>T	8	94809185	94809185	C	T	TMEM67	c.1861-177C>T	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94809185C>T	(Likely) benign	2 labs	e8ac395272
4:79236793 FRAS1 G>A	4	79236793	79236793	G	A	FRAS1	c.1724G>A	NM_025074.7	NP_079350.5:p.(Cys575Tyr)	NC_000004.11:g.79236793G>A	(Likely) pathogenic	2 labs	e8ae83bd79
11:68207276 LRP5 C>T	11	68207276	68207276	C	T	LRP5	c.4380C>T	NM_002335.4	NP_002326.2:p.(Ser1460=)	NC_000011.9:g.68207276C>T	(Likely) benign	3 labs	e8b7101fc5
13:32929403 BRCA2 A>G	13	32929403	32929403	A	G	BRCA2	c.7413A>G	NM_000059.4	NP_000050.3:p.(Thr2471=)	NC_000013.10:g.32929403A>G	(Likely) benign	6 labs	e8b97211e4
15:31319170 TRPM1 G>A	15	31319170	31319170	G	A	TRPM1	c.3495C>T	NM_001252020.2	NP_001238949.1:p.(Gly1165=)	NC_000015.9:g.31319170G>A	(Likely) benign	2 labs	e8c09f9d5f
14:23858233 MYH6 G>A	14	23858233	23858233	G	A	MYH6	c.4010C>T	NM_002471.4	NP_002462.2:p.(Ser1337Leu)	NC_000014.8:g.23858233G>A	VUS	3 labs	e8c8d368ad
16:15812309 MYH11 G>A	16	15812309	15812309	G	A	MYH11	c.5193-14C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15812309G>A	(Likely) benign	2 labs	e8cc8fd4fa
10:69905214 MYPN T>C	10	69905214	69905214	T	C	MYPN	c.1079-18T>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69905214T>C	(Likely) benign	2 labs	e8ccb58752
19:10250487 DNMT1 G>A	19	10250487	10250487	G	A	DNMT1	c.3813C>T	NM_001130823.3	NP_001124295.1:p.(Cys1271=)	NC_000019.9:g.10250487G>A	(Likely) benign	3 labs	e8d2d38ed5
1:21889784 ALPL CG>C	1	21889784	21889789	CG	C	ALPL	c.472+12del	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21889789del	(Likely) benign	4 labs	e8d01bbf19
7:6043656 PMS2 A>G	7	6043656	6043656	A	G	PMS2	c.197T>C	NM_000535.7	NP_000526.2:p.(Ile66Thr)	NC_000007.13:g.6043656A>G	VUS	3 labs	e8d42104b8
1:46655048 POMGNT1 A>G	1	46655048	46655048	A	G	POMGNT1	c.1870-19T>C	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46655048A>G	(Likely) benign	2 labs	e8da813295
15:48782061 FBN1 C>T	15	48782061	48782061	C	T	FBN1	c.3069G>A	NM_000138.5	NP_000129.3:p.(Lys1023=)	NC_000015.9:g.48782061C>T	(Likely) benign	3 labs	e8dbbcd388
X:48629445 GLOD5 G>A	X	48629445	48629445	G	A	GLOD5	c.304G>A	NM_001080489.3	NP_001073958.2:p.(Asp102Asn)	NC_000023.10:g.48629445G>A	(Likely) benign	2 labs	e8e05bf15a
19:13346516 CACNA1A C>T	19	13346516	13346516	C	T	CACNA1A	c.4997G>A	NM_023035.3	NP_075461.2:p.(Arg1666His)	NC_000019.9:g.13346516C>T	(Likely) pathogenic	3 labs	e8ece18922
3:129695538 TRH C>T	3	129695538	129695538	C	T	TRH	c.212-4C>T	NM_007117.5	NP_009048.1:p.?	NC_000003.11:g.129695538C>T	(Likely) benign	2 labs	e8f022646a
1:3331205 PRDM16 C>T	1	3331205	3331205	C	T	PRDM16	c.2685C>T	NM_022114.4	NP_071397.3:p.(His895=)	NC_000001.10:g.3331205C>T	(Likely) benign	2 labs	e8f11e7f67
11:85365211 TMEM126A G>A	11	85365211	85365211	G	A	TMEM126A	c.191G>A	NM_032273.4	NP_115649.1:p.(Arg64His)	NC_000011.9:g.85365211G>A	(Likely) benign	2 labs	e8fb1e517e
20:10629715 JAG1 G>A	20	10629715	10629715	G	A	JAG1	c.1389C>T	NM_000214.3	NP_000205.1:p.(Ser463=)	NC_000020.10:g.10629715G>A	(Likely) benign	2 labs	e900ad646f
7:6042144 PMS2 C>T	7	6042144	6042144	C	T	PMS2	c.477G>A	NM_000535.7	NP_000526.2:p.(Val159=)	NC_000007.13:g.6042144C>T	(Likely) benign	2 labs	e909df4f16
2:73680645 ALMS1 T>C	2	73680645	73680645	T	C	ALMS1	c.6994T>C	NM_015120.4	NP_055935.4:p.(Cys2332Arg)	NC_000002.11:g.73680645T>C	(Likely) benign	2 labs	e90be4d8a5
7:128494137 FLNC C>T	7	128494137	128494137	C	T	FLNC	c.6594C>T	NM_001458.5	NP_001449.3:p.(Gly2198=)	NC_000007.13:g.128494137C>T	(Likely) benign	3 labs	e90d575c78
10:88446985 LDB3 T>C	10	88446985	88446985	T	C	LDB3	c.849T>C	NM_001171610.2	NP_001165081.1:p.(Asp283=)	NC_000010.10:g.88446985T>C	(Likely) benign	3 labs	e9113f5b01
6:32025966 TNXB G>A	6	32025966	32025966	G	A	TNXB	c.7694C>T	NM_019105.8	NP_061978.6:p.(Ala2565Val)	NC_000006.11:g.32025966G>A	(Likely) benign	2 labs	e91991850a
11:94224032 MRE11 G>A	11	94224032	94224032	G	A	MRE11	c.120C>T	NM_005591.4	NP_005582.1:p.(Leu40=)	NC_000011.9:g.94224032G>A	(Likely) benign	3 labs	e9214ee3d7
3:123348368 MYLK G>A	3	123348368	123348368	G	A	MYLK	c.5067C>T	NM_053025.4	NP_444253.3:p.(Ser1689=)	NC_000003.11:g.123348368G>A	(Likely) benign	2 labs	e92f45f113
10:73537466 CDH23 G>A	10	73537466	73537466	G	A	CDH23	c.4875G>A	NM_022124.6	NP_071407.4:p.(Val1625=)	NC_000010.10:g.73537466G>A	(Likely) benign	2 labs	e933057267
1:156104601 LMNA G>C	1	156104601	156104601	G	C	LMNA	c.645G>C	NM_170707.4	NP_733821.1:p.(Leu215=)	NC_000001.10:g.156104601G>C	(Likely) benign	2 labs	e94030d9df
17:58236653 CA4 T>C	17	58236653	58236653	T	C	CA4	c.807T>C	NM_000717.5	NP_000708.1:p.(Asn269=)	NC_000017.10:g.58236653T>C	(Likely) benign	2 labs	e94492808c
16:77398282 ADAMTS18 C>T	16	77398282	77398282	C	T	ADAMTS18	c.263-4G>A	NM_001326358.2	NP_001313287.1:p.?	NC_000016.9:g.77398282C>T	(Likely) benign	2 labs	e952f13d5c
11:2869188 KCNQ1 C>T	11	2869188	2869188	C	T	KCNQ1	c.1986C>T	NM_000218.3	NP_000209.2:p.(Tyr662=)	NC_000011.9:g.2869188C>T	(Likely) benign	4 labs	e9536e7428
18:19321649 MIB1 T>C	18	19321649	19321649	T	C	MIB1	c.105T>C	NM_020774.4	NP_065825.1:p.(His35=)	NC_000018.9:g.19321649T>C	(Likely) benign	2 labs	e954a19912
3:121491422 IQCB1 T>A	3	121491422	121491422	T	A	IQCB1	c.1549A>T	NM_001023570.4	NP_001018864.2:p.(Asn517Tyr)	NC_000003.11:g.121491422T>A	(Likely) benign	3 labs	e95f984edc
20:60887343 LAMA5 G>A	20	60887343	60887343	G	A	LAMA5	c.9390C>T	NM_005560.6	NP_005551.3:p.(His3130=)	NC_000020.10:g.60887343G>A	(Likely) benign	2 labs	e95ff74a4c
9:26978168 IFT74 A>T	9	26978168	26978168	A	T	IFT74	c.163A>T	NM_001349928.2	NP_001336857.1:p.(Ile55Leu)	NC_000009.11:g.26978168A>T	(Likely) benign	3 labs	e969d430cf
7:2578924 BRAT1 G>A	7	2578924	2578924	G	A	BRAT1	c.1659C>T	NM_152743.4	NP_689956.2:p.(Leu553=)	NC_000007.13:g.2578924G>A	(Likely) benign	2 labs	e974b706fd
8:145584337 SLC52A2 G>A	8	145584337	145584337	G	A	SLC52A2	c.1089G>A	NM_001363118.2	NP_001350047.1:p.(Pro363=)	NC_000008.10:g.145584337G>A	(Likely) benign	2 labs	e97572595d
7:92129161 PEX1 CAA>C	7	92129161	92129173	CAA	C	PEX1	c.1960-11_1960-10del	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129172_92129173del	(Likely) benign	2 labs	e97ebfed87
10:55973755 PCDH15 G>A	10	55973755	55973755	G	A	PCDH15	c.1054C>T	NM_001142771.2	NP_001136243.1:p.(Leu352Phe)	NC_000010.10:g.55973755G>A	(Likely) benign	2 labs	e98b20d0f4
1:201328765 TNNT2 G>A	1	201328765	201328765	G	A	TNNT2	c.807C>T	NM_001276347.2	NP_001263276.1:p.(Asn269=)	NC_000001.10:g.201328765G>A	(Likely) benign	2 labs	e98b82e187
1:3102793 PRDM16 G>A	1	3102793	3102793	G	A	PRDM16	c.142G>A	NM_022114.4	NP_071397.3:p.(Val48Met)	NC_000001.10:g.3102793G>A	(Likely) benign	4 labs	e98d97ae6e
7:33217071 BBS9 C>CT	7	33217071	33217083	C	CT	BBS9	c.329-7dup	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217083dup	(Likely) benign	2 labs	e99bb7b4bb
1:94467540 ABCA4 GT>G	1	94467540	94467543	GT	G	ABCA4	c.6155del	NM_000350.3	NP_000341.2:p.(Asn2052ThrfsTer9)	NC_000001.10:g.94467543del	(Likely) pathogenic	2 labs	e99ce7b8e4
12:103245479 PAH C>A	12	103245479	103245479	C	A	PAH	c.898G>T	NM_000277.3	NP_000268.1:p.(Ala300Ser)	NC_000012.11:g.103245479C>A	(Likely) pathogenic	5 labs	e9a6f065c7
2:179482078 TTN T>G	2	179482078	179482078	T	G	TTN	c.47734A>C	NM_001267550.2	NP_001254479.2:p.(Lys15912Gln)	NC_000002.11:g.179482078T>G	VUS	2 labs	e9ac54e006
6:56483528 DST A>G	6	56483528	56483528	A	G	DST	c.5304T>C	NM_001723.7	NP_001714.1:p.(Thr1768=)	NC_000006.11:g.56483528A>G	(Likely) benign	2 labs	e9afc57b30
2:74594523 DCTN1 C>T	2	74594523	74594523	C	T	DCTN1	c.2209G>A	NM_004082.5	NP_004073.2:p.(Glu737Lys)	NC_000002.11:g.74594523C>T	VUS	3 labs	e9bd04297b
15:63358174 TPM1 A>G	15	63358174	63358174	A	G	TPM1	c.852A>G	NM_001365777.1	NP_001352706.1:p.(Leu284=)	NC_000015.9:g.63358174A>G	(Likely) benign	3 labs	e9c01eb1fa
17:41243014 BRCA1 C>T	17	41243014	41243014	C	T	BRCA1	c.4132G>A	NM_007294.4	NP_009225.1:p.(Val1378Ile)	NC_000017.10:g.41243014C>T	(Likely) benign	3 labs	e9c3f7259c
22:51066183 ARSA G>T	22	51066183	51066183	G	T	ARSA	c.25C>A	NM_000487.6	NP_000478.3:p.(Leu9Ile)	NC_000022.10:g.51066183G>T	VUS	2 labs	e9d668fe29
3:87309259 POU1F1 C>T	3	87309259	87309259	C	T	POU1F1	c.744-5G>A	NM_001122757.3	NP_001116229.1:p.?	NC_000003.11:g.87309259C>T	(Likely) benign	2 labs	e9da5c47ff
1:237620034 RYR2 G>A	1	237620034	237620034	G	A	RYR2	c.1611G>A	NM_001035.3	NP_001026.2:p.(Leu537=)	NC_000001.10:g.237620034G>A	(Likely) benign	2 labs	e9dcba1f0e
8:100654720 VPS13B T>C	8	100654720	100654720	T	C	VPS13B	c.5977T>C	NM_017890.5	NP_060360.3:p.(Cys1993Arg)	NC_000008.10:g.100654720T>C	VUS	2 labs	e9dd904c40
1:11182063 MTOR G>A	1	11182063	11182063	G	A	MTOR	c.6783C>T	NM_004958.4	NP_004949.1:p.(Leu2261=)	NC_000001.10:g.11182063G>A	(Likely) benign	2 labs	e9df77713d
16:23646397 PALB2 G>A	16	23646397	23646397	G	A	PALB2	c.1470C>T	NM_024675.4	NP_078951.2:p.(Pro490=)	NC_000016.9:g.23646397G>A	(Likely) benign	5 labs	e9e409b6eb
18:58039276 MC4R C>T	18	58039276	58039276	C	T	MC4R	c.307G>A	NM_005912.3	NP_005903.2:p.(Val103Ile)	NC_000018.9:g.58039276C>T	(Likely) benign	3 labs	e9e6041b8c
11:47364507 MYBPC3 T>G	11	47364507	47364507	T	G	MYBPC3	c.1352-21A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364507T>G	(Likely) benign	2 labs	e9ea98f960
6:79735759 PHIP T>C	6	79735759	79735759	T	C	PHIP	c.723A>G	NM_017934.7	NP_060404.4:p.(Ala241=)	NC_000006.11:g.79735759T>C	(Likely) benign	2 labs	e9f8728e50
1:2238024 SKI C>G	1	2238024	2238024	C	G	SKI	c.2007C>G	NM_003036.4	NP_003027.1:p.(Asp669Glu)	NC_000001.10:g.2238024C>G	(Likely) benign	2 labs	e9fa2720db
10:123325034 FGFR2 C>T	10	123325034	123325034	C	T	FGFR2	c.294G>A	NM_000141.5	NP_000132.3:p.(Thr98=)	NC_000010.10:g.123325034C>T	(Likely) benign	4 labs	e9fc219931
8:100883847 VPS13B C>T	8	100883847	100883847	C	T	VPS13B	c.11742C>T	NM_017890.5	NP_060360.3:p.(Ile3914=)	NC_000008.10:g.100883847C>T	(Likely) benign	2 labs	e9fdbbfd58
22:38508249 PLA2G6 G>A	22	38508249	38508249	G	A	PLA2G6	c.2340C>T	NM_003560.4	NP_003551.2:p.(Asn780=)	NC_000022.10:g.38508249G>A	(Likely) benign	2 labs	ea02c6b344
1:237872762 RYR2 A>G	1	237872762	237872762	A	G	RYR2	c.10143-18A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237872762A>G	(Likely) benign	3 labs	ea0a09e4eb
X:153218182 HCFC1 G>A	X	153218182	153218182	G	A	HCFC1	c.4725C>T	NM_005334.3	NP_005325.2:p.(Pro1575=)	NC_000023.10:g.153218182G>A	(Likely) benign	3 labs	ea172451d9
19:16590094 CALR3 A>G	19	16590094	16590094	A	G	CALR3	c.1012-9T>C	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16590094A>G	(Likely) benign	3 labs	ea2015feaf
2:179439018 TTN C>G	2	179439018	179439018	C	G	TTN	c.71841G>C	NM_001267550.2	NP_001254479.2:p.(Lys23947Asn)	NC_000002.11:g.179439018C>G	(Likely) benign	2 labs	ea25b715c4
21:47410741 COL6A1 G>A	21	47410741	47410741	G	A	COL6A1	c.1056+1G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410741G>A	(Likely) pathogenic	3 labs	ea286f5d3b
9:139402721 NOTCH1 C>G	9	139402721	139402721	C	G	NOTCH1	c.3288G>C	NM_017617.5	NP_060087.3:p.(Val1096=)	NC_000009.11:g.139402721C>G	(Likely) benign	4 labs	ea37c6a4ba
16:46694534 VPS35 G>A	16	46694534	46694534	G	A	VPS35	c.2241C>T	NM_018206.6	NP_060676.2:p.(Ile747=)	NC_000016.9:g.46694534G>A	(Likely) benign	2 labs	ea39ac2c26
6:112496511 LAMA4 C>A	6	112496511	112496511	C	A	LAMA4	c.1357+4G>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112496511C>A	(Likely) benign	3 labs	ea3b5332c2
3:129247660 RHO G>T	3	129247660	129247660	G	T	RHO	c.84G>T	NM_000539.3	NP_000530.1:p.(Gln28His)	NC_000003.11:g.129247660G>T	(Likely) pathogenic	3 labs	ea53fcafac
11:68080214 LRP5 CGCT>C	11	68080214	68080242	CGCT	C	LRP5	c.58_60del	NM_002335.4	NP_002326.2:p.(Leu20del)	NC_000011.9:g.68080240_68080242del	(Likely) benign	3 labs	ea5c323bcb
12:76740096 BBS10 T>C	12	76740096	76740096	T	C	BBS10	c.1669A>G	NM_024685.4	NP_078961.3:p.(Ile557Val)	NC_000012.11:g.76740096T>C	(Likely) benign	2 labs	ea642fc17f
14:105174055 INF2 G>A	14	105174055	105174055	G	A	INF2	c.1451G>A	NM_022489.4	NP_071934.3:p.(Cys484Tyr)	NC_000014.8:g.105174055G>A	(Likely) benign	3 labs	ea6d556a8c
2:74597124 DCTN1 C>G	2	74597124	74597124	C	G	DCTN1	c.1360G>C	NM_004082.5	NP_004073.2:p.(Val454Leu)	NC_000002.11:g.74597124C>G	VUS	2 labs	ea799d4259
17:33428224 RAD51D C>T	17	33428224	33428224	C	T	RAD51D	c.899G>A	NM_002878.4	NP_002869.3:p.(Arg300Gln)	NC_000017.10:g.33428224C>T	VUS	3 labs	ea86dd6e6d
1:3322097 PRDM16 C>T	1	3322097	3322097	C	T	PRDM16	c.1071C>T	NM_022114.4	NP_071397.3:p.(Arg357=)	NC_000001.10:g.3322097C>T	(Likely) benign	4 labs	ea8abc529a
6:64431498 EYS G>A	6	64431498	64431498	G	A	EYS	c.8492C>T	NM_001292009.2	NP_001278938.1:p.(Thr2831Ile)	NC_000006.11:g.64431498G>A	(Likely) benign	3 labs	ea8b2cb454
15:45400358 DUOX2 C>G	15	45400358	45400358	C	G	DUOX2	c.1461G>C	NM_014080.5	NP_054799.4:p.(Gly487=)	NC_000015.9:g.45400358C>G	(Likely) benign	3 labs	ea8d74ef58
7:94053651 COL1A2 C>T	7	94053651	94053651	C	T	COL1A2	c.2569C>T	NM_000089.4	NP_000080.2:p.(Pro857Ser)	NC_000007.13:g.94053651C>T	VUS	3 labs	ea8eee2dcc
14:21794019 RPGRIP1 C>T	14	21794019	21794019	C	T	RPGRIP1	c.2397C>T	NM_020366.4	NP_065099.3:p.(Asn799=)	NC_000014.8:g.21794019C>T	(Likely) benign	2 labs	ea915eb76a
16:16278863 ABCC6 G>T	16	16278863	16278863	G	T	ABCC6	c.1896C>A	NM_001171.6	NP_001162.5:p.(His632Gln)	NC_000016.9:g.16278863G>T	(Likely) benign	2 labs	ea9f8a9216
9:139393452 NOTCH1 C>T	9	139393452	139393452	C	T	NOTCH1	c.6083-4G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139393452C>T	(Likely) benign	2 labs	ea9e24171c
16:2131708 TSC2 C>T	16	2131708	2131708	C	T	TSC2	c.3723C>T	NM_000548.5	NP_000539.2:p.(Phe1241=)	NC_000016.9:g.2131708C>T	(Likely) benign	2 labs	eaa0b5a953
3:123453061 MYLK A>G	3	123453061	123453061	A	G	MYLK	c.782T>C	NM_053025.4	NP_444253.3:p.(Val261Ala)	NC_000003.11:g.123453061A>G	(Likely) benign	3 labs	eaa227aa3c
11:117252487 CEP164 C>A	11	117252487	117252487	C	A	CEP164	c.1480C>A	NM_014956.5	NP_055771.4:p.(Pro494Thr)	NC_000011.9:g.117252487C>A	(Likely) benign	2 labs	eaa7680b51
1:215953361 USH2A C>G	1	215953361	215953361	C	G	USH2A	c.10763G>C	NM_206933.4	NP_996816.3:p.(Gly3588Ala)	NC_000001.10:g.215953361C>G	VUS	2 labs	eaade0ee19
1:3329300 PRDM16 A>T	1	3329300	3329300	A	T	PRDM16	c.2539A>T	NM_022114.4	NP_071397.3:p.(Met847Leu)	NC_000001.10:g.3329300A>T	(Likely) benign	2 labs	ead1d2d947
8:42977849 POMK G>A	8	42977849	42977849	G	A	POMK	c.882G>A	NM_032237.5	NP_115613.1:p.(Gly294=)	NC_000008.10:g.42977849G>A	(Likely) benign	2 labs	ead3fd77f7
6:7576569 DSP T>C	6	7576569	7576569	T	C	DSP	c.2673T>C	NM_004415.4	NP_004406.2:p.(Tyr891=)	NC_000006.11:g.7576569T>C	(Likely) benign	4 labs	ead4b65e18
8:42720581 RNF170 C>T	8	42720581	42720581	C	T	RNF170	c.374G>A	NM_001160223.2	NP_001153695.1:p.(Ser125Asn)	NC_000008.10:g.42720581C>T	(Likely) benign	2 labs	ead647afb6
2:15534481 NBAS T>C	2	15534481	15534481	T	C	NBAS	c.3135-8A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15534481T>C	(Likely) benign	2 labs	eae85f8a3b
X:31525480 DMD C>T	X	31525480	31525480	C	T	DMD	c.8308G>A	NM_004006.3	NP_003997.2:p.(Asp2770Asn)	NC_000023.10:g.31525480C>T	(Likely) benign	2 labs	eae88eff44
2:121747406 GLI2 G>A	2	121747406	121747406	G	A	GLI2	c.3916G>A	NM_005270.5	NP_005261.2:p.(Asp1306Asn)	NC_000002.11:g.121747406G>A	(Likely) benign	2 labs	eae8edad46
3:14183203 TMEM43 T>C	3	14183203	14183203	T	C	TMEM43	c.1111T>C	NM_024334.3	NP_077310.1:p.(Tyr371His)	NC_000003.11:g.14183203T>C	(Likely) benign	3 labs	eaeb02555b
8:134108453 SLA C>T	8	134108453	134108453	C	T	SLA	c.-319+6344G>A	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134108453C>T	(Likely) benign	2 labs	eb027bced6
6:75828856 COL12A1 G>A	6	75828856	75828856	G	A	COL12A1	c.7257C>T	NM_004370.6	NP_004361.3:p.(Ser2419=)	NC_000006.11:g.75828856G>A	(Likely) benign	2 labs	eaf4857d40
9:35059112 VCP G>A	9	35059112	35059112	G	A	VCP	c.2109C>T	NM_007126.5	NP_009057.1:p.(Ile703=)	NC_000009.11:g.35059112G>A	(Likely) benign	2 labs	eaffb38881
8:145005688 PLEC A>AC	8	145005688	145005693	A	AC	PLEC	c.2715+13dup	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145005693dup	(Likely) benign	2 labs	eb0ef6155e
11:108114840 ATM T>C	11	108114840	108114840	T	C	ATM	c.657T>C	NM_000051.4	NP_000042.3:p.(Cys219=)	NC_000011.9:g.108114840T>C	(Likely) benign	4 labs	eb0430f5f8
5:148407852 SH3TC2 G>A	5	148407852	148407852	G	A	SH3TC2	c.1443C>T	NM_024577.4	NP_078853.2:p.(Asp481=)	NC_000005.9:g.148407852G>A	(Likely) benign	2 labs	eb1b56bf81
17:62021206 SCN4A C>A	17	62021206	62021206	C	A	SCN4A	c.3917G>T	NM_000334.4	NP_000325.4:p.(Gly1306Val)	NC_000017.10:g.62021206C>A	(Likely) pathogenic	2 labs	eb1eb60ce1
22:40757657 ADSL A>G	22	40757657	40757657	A	G	ADSL	c.1010+18A>G	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40757657A>G	(Likely) benign	2 labs	eb24c844df
1:2160421 SKI C>T	1	2160421	2160421	C	T	SKI	c.216C>T	NM_003036.4	NP_003027.1:p.(Pro72=)	NC_000001.10:g.2160421C>T	(Likely) benign	4 labs	eb28ff550e
5:74722305 CERT1 T>TA	5	74722305	74722315	T	TA	CERT1	c.733-3dup	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74722315dup	(Likely) benign	2 labs	eb33b56d14
10:75871681 VCL C>T	10	75871681	75871681	C	T	VCL	c.2760C>T	NM_014000.3	NP_054706.1:p.(Ala920=)	NC_000010.10:g.75871681C>T	(Likely) benign	3 labs	eb412d2119
9:98209214 PTCH1 G>A	9	98209214	98209214	G	A	PTCH1	c.4324C>T	NM_000264.5	NP_000255.2:p.(Arg1442Trp)	NC_000009.11:g.98209214G>A	(Likely) benign	3 labs	eb49cab1d3
9:117266754 WHRN T>C	9	117266754	117266754	T	C	WHRN	c.328A>G	NM_015404.4	NP_056219.3:p.(Thr110Ala)	NC_000009.11:g.117266754T>C	VUS	2 labs	eb4f9e65bf
7:103206870 RELN A>G	7	103206870	103206870	A	G	RELN	c.4748-11T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206870A>G	(Likely) benign	3 labs	eb5221eaa6
21:47545823 COL6A2 G>A	21	47545823	47545823	G	A	COL6A2	c.2094G>A	NM_058175.3	NP_478055.2:p.(Ala698=)	NC_000021.8:g.47545823G>A	(Likely) benign	3 labs	eb5467c5b4
10:51863872 WASHC2A T>C	10	51863872	51863872	T	C	WASHC2A	c.1706T>C	NM_001005751.3	NP_001005751.1:p.(Leu569Ser)	NC_000010.10:g.51863872T>C	(Likely) benign	2 labs	eb702a7871
X:31525378 DMD T>G	X	31525378	31525378	T	G	DMD	c.8021+20A>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31525378T>G	(Likely) benign	2 labs	eb85790ca1
2:108618468 SLC5A7 A>G	2	108618468	108618468	A	G	SLC5A7	c.713A>G	NM_021815.5	NP_068587.1:p.(Tyr238Cys)	NC_000002.11:g.108618468A>G	(Likely) benign	2 labs	eb8589a813
17:62019033 SCN4A C>T	17	62019033	62019033	C	T	SCN4A	c.4609G>A	NM_000334.4	NP_000325.4:p.(Gly1537Ser)	NC_000017.10:g.62019033C>T	VUS	2 labs	eb8d10215f
16:67876823 THAP11 ACAG>A	16	67876823	67876853	ACAG	A	THAP11	c.394_396del	NM_020457.3	NP_065190.2:p.(Gln132del)	NC_000016.9:g.67876851_67876853del	(Likely) benign	2 labs	eba3cb7d10
8:55541508 RP1 G>A	8	55541508	55541508	G	A	RP1	c.5066G>A	NM_006269.2	NP_006260.1:p.(Ser1689Asn)	NC_000008.10:g.55541508G>A	(Likely) benign	2 labs	eba64c593d
14:76249778 TTLL5 G>A	14	76249778	76249778	G	A	TTLL5	c.2891G>A	NM_015072.5	NP_055887.3:p.(Arg964Gln)	NC_000014.8:g.76249778G>A	(Likely) benign	2 labs	ebb2659cfe
12:33031884 PKP2 G>T	12	33031884	33031884	G	T	PKP2	c.306C>A	NM_004572.4	NP_004563.2:p.(Ser102=)	NC_000012.11:g.33031884G>T	(Likely) benign	2 labs	ebbcd2f599
3:37050416 MLH1 A>T	3	37050416	37050416	A	T	MLH1	c.545+20A>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37050416A>T	(Likely) benign	3 labs	ebc89c451c
19:10930782 DNM2 C>A	19	10930782	10930782	C	A	DNM2	c.1781+17C>A	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10930782C>A	(Likely) benign	2 labs	ebcb63c3f6
15:85405865 ALPK3 G>A	15	85405865	85405865	G	A	ALPK3	c.4130-1G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85405865G>A	(Likely) pathogenic	4 labs	ebd5a53621
18:19395627 MIB1 C>T	18	19395627	19395627	C	T	MIB1	c.1530C>T	NM_020774.4	NP_065825.1:p.(Gly510=)	NC_000018.9:g.19395627C>T	(Likely) benign	2 labs	ebd7fb3387
19:50366979 PNKP C>T	19	50366979	50366979	C	T	PNKP	c.783G>A	NM_007254.4	NP_009185.2:p.(Pro261=)	NC_000019.9:g.50366979C>T	(Likely) benign	3 labs	ebd818eee5
13:32913655 BRCA2 CAG>C	13	32913655	32913657	CAG	C	BRCA2	c.5164_5165del	NM_000059.4	NP_000050.3:p.(Ser1722TyrfsTer4)	NC_000013.10:g.32913656_32913657del	(Likely) pathogenic	2 labs	ebe9e99057
12:88472911 CEP290 G>A	12	88472911	88472911	G	A	CEP290	c.5322C>T	NM_025114.4	NP_079390.3:p.(Leu1774=)	NC_000012.11:g.88472911G>A	(Likely) benign	5 labs	ebeb10bde5
19:47258956 FKRP C>T	19	47258956	47258956	C	T	FKRP	c.249C>T	NM_001039885.3	NP_001034974.1:p.(Ala83=)	NC_000019.9:g.47258956C>T	(Likely) benign	3 labs	ebf062ba34
19:35524944 SCN1B G>A	19	35524944	35524944	G	A	SCN1B	c.749G>A	NM_199037.5	NP_950238.1:p.(Arg250Lys)	NC_000019.9:g.35524944G>A	(Likely) benign	2 labs	ebfebddcbd
4:123855728 AFG2A TCAA>T	4	123855728	123855737	TCAA	T	AFG2A	c.989_991del	NM_145207.3	NP_660208.2:p.(Thr330del)	NC_000004.11:g.123855735_123855737del	(Likely) pathogenic	5 labs	ec0d832de8
1:47882885 FOXE3 A>G	1	47882885	47882885	A	G	FOXE3	c.898A>G	NM_012186.3	NP_036318.1:p.(Ser300Gly)	NC_000001.10:g.47882885A>G	(Likely) benign	2 labs	ec11da05e8
X:107978377 IRS4 C>T	X	107978377	107978377	C	T	IRS4	c.1198G>A	NM_003604.2	NP_003595.1:p.(Val400Ile)	NC_000023.10:g.107978377C>T	(Likely) benign	2 labs	ec17b2363c
17:41267809 BRCA1 G>C	17	41267809	41267809	G	C	BRCA1	c.81-13C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267809G>C	(Likely) benign	5 labs	ec2119c7c6
5:151045923 SPARC C>T	5	151045923	151045923	C	T	SPARC	c.733G>A	NM_003118.4	NP_003109.1:p.(Gly245Arg)	NC_000005.9:g.151045923C>T	(Likely) benign	2 labs	ec2318e7c7
9:135781205 TSC1 T>C	9	135781205	135781205	T	C	TSC1	c.1760A>G	NM_000368.5	NP_000359.1:p.(Lys587Arg)	NC_000009.11:g.135781205T>C	(Likely) benign	2 labs	ec2fe6b59f
7:128488095 FLNC A>G	7	128488095	128488095	A	G	FLNC	c.4553A>G	NM_001458.5	NP_001449.3:p.(Lys1518Arg)	NC_000007.13:g.128488095A>G	(Likely) benign	2 labs	ec300537e7
2:21231190 APOB A>C	2	21231190	21231190	A	C	APOB	c.8550T>G	NM_000384.3	NP_000375.3:p.(Ile2850Met)	NC_000002.11:g.21231190A>C	(Likely) benign	2 labs	ec34a6f425
18:34229330 FHOD3 A>G	18	34229330	34229330	A	G	FHOD3	c.1248A>G	NM_001281740.3	NP_001268669.1:p.(Glu416=)	NC_000018.9:g.34229330A>G	(Likely) benign	2 labs	ec3bc022be
12:110236722 TRPV4 G>A	12	110236722	110236722	G	A	TRPV4	c.854-5C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110236722G>A	(Likely) benign	2 labs	ec44681d6b
4:123663259 BBS12 A>G	4	123663259	123663259	A	G	BBS12	c.212A>G	NM_152618.3	NP_689831.2:p.(Asn71Ser)	NC_000004.11:g.123663259A>G	(Likely) benign	3 labs	ec4701a708
1:45797887 MUTYH G>A	1	45797887	45797887	G	A	MUTYH	c.884C>T	NM_001128425.2	NP_001121897.1:p.(Pro295Leu)	NC_000001.10:g.45797887G>A	(Likely) pathogenic	4 labs	ec4f6bac3a
3:129252483 RHO C>T	3	129252483	129252483	C	T	RHO	c.969C>T	NM_000539.3	NP_000530.1:p.(Cys323=)	NC_000003.11:g.129252483C>T	(Likely) benign	2 labs	ec4fb48f27
1:215847892 USH2A A>T	1	215847892	215847892	A	T	USH2A	c.13361T>A	NM_206933.4	NP_996816.3:p.(Val4454Asp)	NC_000001.10:g.215847892A>T	VUS	2 labs	ec5093b5ba
5:140059387 HARS1 G>A	5	140059387	140059387	G	A	HARS1	c.382C>T	NM_002109.6	NP_002100.2:p.(Arg128Cys)	NC_000005.9:g.140059387G>A	VUS	2 labs	ec52cab63a
10:27326133 ANKRD26 T>C	10	27326133	27326133	T	C	ANKRD26	c.2679A>G	NM_014915.3	NP_055730.2:p.(Gln893=)	NC_000010.10:g.27326133T>C	(Likely) benign	2 labs	ec53864962
2:73613031 ALMS1 T>TGGAGGAGGA	2	73613031	73613070	T	TGGAGGAGGA	ALMS1	c.72_77dup	NM_015120.4	NP_055935.4:p.(Glu28_Glu29dup)	NC_000002.11:g.73613062_73613070dup	(Likely) benign	4 labs	ec693d628a
3:37090074 MLH1 A>G	3	37090074	37090074	A	G	MLH1	c.1963A>G	NM_000249.4	NP_000240.1:p.(Ile655Val)	NC_000003.11:g.37090074A>G	(Likely) benign	2 labs	ec768bf2f5
4:114275950 ANK2 C>T	4	114275950	114275950	C	T	ANK2	c.6317C>T	NM_001386174.1	NP_001373103.1:p.(Thr2106Met)	NC_000004.11:g.114275950C>T	(Likely) benign	4 labs	ec782840b5
X:100662769 GLA G>A	X	100662769	100662769	G	A	GLA	c.123C>T	NM_000169.3	NP_000160.1:p.(Thr41=)	NC_000023.10:g.100662769G>A	(Likely) benign	4 labs	ec78f704da
9:137727030 COL5A1 G>A	9	137727030	137727030	G	A	COL5A1	c.5350G>A	NM_000093.5	NP_000084.3:p.(Ala1784Thr)	NC_000009.11:g.137727030G>A	(Likely) benign	3 labs	ec7d505431
2:179536955 TTN C>T	2	179536955	179536955	C	T	TTN	c.34970G>A	NM_001267550.2	NP_001254479.2:p.(Arg11657His)	NC_000002.11:g.179536955C>T	(Likely) benign	5 labs	ec80c3eed6
X:10491233 MID1 C>CA	X	10491233	10491249	C	CA	MID1	c.661-7dup	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10491249dup	(Likely) benign	4 labs	ec8651bc50
3:154834478 MME AC>A	3	154834478	154834480	AC	A	MME	c.467del	NM_007288.3	NP_009219.2:p.(Pro156LeufsTer14)	NC_000003.11:g.154834480del	(Likely) pathogenic	3 labs	ec87300c7a
2:145156524 ZEB2 T>C	2	145156524	145156524	T	C	ZEB2	c.2230A>G	NM_014795.4	NP_055610.1:p.(Ile744Val)	NC_000002.11:g.145156524T>C	(Likely) benign	2 labs	ec90ba5906
14:60977843 SIX6 T>G	14	60977843	60977843	T	G	SIX6	c.614T>G	NM_007374.3	NP_031400.2:p.(Leu205Arg)	NC_000014.8:g.60977843T>G	(Likely) benign	2 labs	ec914dabeb
10:61956386 ANK3 G>GAA	10	61956386	61956398	G	GAA	ANK3	c.1690-5_1690-4dup	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956397_61956398dup	(Likely) benign	2 labs	ec91f100a9
10:75854010 VCL G>A	10	75854010	75854010	G	A	VCL	c.1353-19G>A	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75854010G>A	(Likely) benign	2 labs	ecbdf3c6e8
12:40753044 LRRK2 C>CT	12	40753044	40753054	C	CT	LRRK2	c.6844-8dup	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40753054dup	(Likely) benign	3 labs	ecc00dd137
10:73548747 CDH23 C>G	10	73548747	73548747	C	G	CDH23	c.5871C>G	NM_022124.6	NP_071407.4:p.(Pro1957=)	NC_000010.10:g.73548747C>G	(Likely) benign	2 labs	ecc8424cb1
8:96047806 NDUFAF6 T>TA	8	96047806	96047819	T	TA	NDUFAF6	c.420+15dup	NM_152416.4	NP_689629.2:p.?	NC_000008.10:g.96047819dup	(Likely) benign	2 labs	ed1def3804
X:77301044 ATP7A G>C	X	77301044	77301044	G	C	ATP7A	c.4201G>C	NM_000052.7	NP_000043.4:p.(Val1401Leu)	NC_000023.10:g.77301044G>C	(Likely) benign	3 labs	ecdce02406
11:18332456 HPS5 T>C	11	18332456	18332456	T	C	HPS5	c.309A>G	NM_181507.2	NP_852608.1:p.(Glu103=)	NC_000011.9:g.18332456T>C	(Likely) benign	2 labs	ece82a5844
11:108127089 ATM A>C	11	108127089	108127089	A	C	ATM	c.2250+22A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108127089A>C	(Likely) benign	4 labs	ecf183d83c
11:108202589 ATM T>C	11	108202589	108202589	T	C	ATM	c.7630-17T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202589T>C	(Likely) benign	2 labs	ecf36ca395
13:32912940 BRCA2 CA>C	13	32912940	32912941	CA	C	BRCA2	c.4449del	NM_000059.4	NP_000050.3:p.(Asp1484ThrfsTer2)	NC_000013.10:g.32912941del	(Likely) pathogenic	5 labs	ed002586b4
1:169446561 SLC19A2 C>T	1	169446561	169446561	C	T	SLC19A2	c.639G>A	NM_006996.3	NP_008927.1:p.(Lys213=)	NC_000001.10:g.169446561C>T	(Likely) benign	3 labs	ed0c6764bb
10:73550880 CDH23 G>A	10	73550880	73550880	G	A	CDH23	c.6050-9G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73550880G>A	(Likely) pathogenic	4 labs	ed0dc9f3bb
4:184605212 TRAPPC11 G>A	4	184605212	184605212	G	A	TRAPPC11	c.1287+5G>A	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184605212G>A	(Likely) pathogenic	2 labs	ed0df94a8e
1:216496927 USH2A A>G	1	216496927	216496927	A	G	USH2A	c.1439T>C	NM_206933.4	NP_996816.3:p.(Val480Ala)	NC_000001.10:g.216496927A>G	VUS	3 labs	ed2933415f
12:2788732 CACNA1C C>A	12	2788732	2788732	C	A	CACNA1C	c.5358C>A	NM_199460.4	NP_955630.3:p.(Gly1786=)	NC_000012.11:g.2788732C>A	(Likely) benign	2 labs	ed327e8163
2:179451978 TTN A>T	2	179451978	179451978	A	T	TTN	c.63960T>A	NM_001267550.2	NP_001254479.2:p.(Val21320=)	NC_000002.11:g.179451978A>T	(Likely) benign	3 labs	ed34703687
18:21121072 NPC1 T>C	18	21121072	21121072	T	C	NPC1	c.2474A>G	NM_000271.5	NP_000262.2:p.(Tyr825Cys)	NC_000018.9:g.21121072T>C	(Likely) pathogenic	3 labs	ed348960bc
1:147230322 GJA5 C>T	1	147230322	147230322	C	T	GJA5	c.1025G>A	NM_005266.7	NP_005257.2:p.(Arg342Gln)	NC_000001.10:g.147230322C>T	VUS	2 labs	ed35b4f44f
5:82837443 VCAN C>T	5	82837443	82837443	C	T	VCAN	c.8621C>T	NM_004385.5	NP_004376.2:p.(Ala2874Val)	NC_000005.9:g.82837443C>T	(Likely) benign	2 labs	ed466f2152
2:99013190 CNGA3 G>A	2	99013190	99013190	G	A	CNGA3	c.1557G>A	NM_001298.3	NP_001289.1:p.(Met519Ile)	NC_000002.11:g.99013190G>A	(Likely) pathogenic	3 labs	ed59386612
1:236883462 ACTN2 G>A	1	236883462	236883462	G	A	ACTN2	c.419G>A	NM_001103.4	NP_001094.1:p.(Arg140His)	NC_000001.10:g.236883462G>A	VUS	2 labs	ed5abc0f22
2:241658594 KIF1A C>T	2	241658594	241658594	C	T	KIF1A	c.5043G>A	NM_001244008.2	NP_001230937.1:p.(Gly1681=)	NC_000002.11:g.241658594C>T	(Likely) benign	2 labs	ed68872656
10:85970867 CDHR1 C>T	10	85970867	85970867	C	T	CDHR1	c.1431C>T	NM_033100.4	NP_149091.1:p.(Tyr477=)	NC_000010.10:g.85970867C>T	(Likely) benign	2 labs	ed75636140
17:56809908 RAD51C CAGT>C	17	56809908	56809912	CAGT	C	RAD51C	c.1026+5_1026+7del	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56809910_56809912del	(Likely) pathogenic	4 labs	ed7a1317ba
3:50232211 GNAT1 C>T	3	50232211	50232211	C	T	GNAT1	c.876C>T	NM_144499.3	NP_653082.1:p.(Tyr292=)	NC_000003.11:g.50232211C>T	(Likely) benign	2 labs	ed7f229e42
2:189904086 COL5A2 A>G	2	189904086	189904086	A	G	COL5A2	c.3837T>C	NM_000393.5	NP_000384.2:p.(Ile1279=)	NC_000002.11:g.189904086A>G	(Likely) benign	4 labs	ed84534317
2:179540634 TTN C>T	2	179540634	179540634	C	T	TTN	c.34453+14G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179540634C>T	(Likely) benign	3 labs	ed87b7be9b
1:228346048 GJC2 C>CA	1	228346048	228346050	C	CA	GJC2	c.591dup	NM_020435.4	NP_065168.2:p.(His198ThrfsTer66)	NC_000001.10:g.228346050dup	(Likely) pathogenic	2 labs	ed88b4b19a
11:62380834 ROM1 G>T	11	62380834	62380834	G	T	ROM1	c.81G>T	NM_000327.4	NP_000318.2:p.(Leu27=)	NC_000011.9:g.62380834G>T	(Likely) benign	2 labs	ed8dc9edbf
17:40695884 NAGLU C>T	17	40695884	40695884	C	T	NAGLU	c.1860C>T	NM_000263.4	NP_000254.2:p.(Ser620=)	NC_000017.10:g.40695884C>T	(Likely) benign	2 labs	ed8feb343b
6:32056751 TNXB G>A	6	32056751	32056751	G	A	TNXB	c.2590C>T	NM_019105.8	NP_061978.6:p.(Gln864Ter)	NC_000006.11:g.32056751G>A	(Likely) pathogenic	3 labs	ed923fe980
17:41245381 BRCA1 T>C	17	41245381	41245381	T	C	BRCA1	c.2167A>G	NM_007294.4	NP_009225.1:p.(Asn723Asp)	NC_000017.10:g.41245381T>C	(Likely) benign	4 labs	ed94c7f669
9:137706696 COL5A1 C>T	9	137706696	137706696	C	T	COL5A1	c.3960C>T	NM_000093.5	NP_000084.3:p.(Ala1320=)	NC_000009.11:g.137706696C>T	(Likely) benign	2 labs	ed9decdb05
19:10291084 DNMT1 G>A	19	10291084	10291084	G	A	DNMT1	c.387C>T	NM_001130823.3	NP_001124295.1:p.(Pro129=)	NC_000019.9:g.10291084G>A	(Likely) benign	2 labs	edb0f645a2
14:23871999 MYH6 C>T	14	23871999	23871999	C	T	MYH6	c.909G>A	NM_002471.4	NP_002462.2:p.(Leu303=)	NC_000014.8:g.23871999C>T	(Likely) benign	3 labs	edb10fc813
2:179641210 TTN A>G	2	179641210	179641210	A	G	TTN	c.5381T>C	NM_001267550.2	NP_001254479.2:p.(Val1794Ala)	NC_000002.11:g.179641210A>G	VUS	2 labs	edbfcf9ca1
20:35579970 SAMHD1 G>A	20	35579970	35579970	G	A	SAMHD1	c.77C>T	NM_015474.4	NP_056289.2:p.(Pro26Leu)	NC_000020.10:g.35579970G>A	(Likely) benign	2 labs	edc760f490
22:21212966 PI4KA G>GCCGCCTCCGCCT	22	21212966	21212992	G	GCCGCCTCCGCCT	PI4KA	c.36_47dup	NM_058004.4	NP_477352.3:p.(Gly15_Gly18dup)	NC_000022.10:g.21212981_21212992dup	(Likely) benign	3 labs	edce6489fb
14:102515010 DYNC1H1 C>T	14	102515010	102515010	C	T	DYNC1H1	c.13372+4C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102515010C>T	(Likely) benign	3 labs	edd8fa18ad
8:144993831 PLEC C>T	8	144993831	144993831	C	T	PLEC	c.10569G>A	NM_201380.4	NP_958782.1:p.(Ala3523=)	NC_000008.10:g.144993831C>T	(Likely) benign	2 labs	edfe5c5d4d
2:170338821 BBS5 CA>C	2	170338821	170338824	CA	C	BBS5	c.123del	NM_152384.3	NP_689597.1:p.(Gly42GlufsTer11)	NC_000002.11:g.170338824del	(Likely) pathogenic	2 labs	ee00a4580b
9:137655580 COL5A1 G>A	9	137655580	137655580	G	A	COL5A1	c.2031G>A	NM_000093.5	NP_000084.3:p.(Glu677=)	NC_000009.11:g.137655580G>A	(Likely) benign	2 labs	ee11935527
10:121436740 BAG3 G>A	10	121436740	121436740	G	A	BAG3	c.1674G>A	NM_004281.4	NP_004272.2:p.(Ala558=)	NC_000010.10:g.121436740G>A	(Likely) benign	2 labs	ee17de4441
11:66278154 BBS1 T>C	11	66278154	66278154	T	C	BBS1	c.24T>C	NM_024649.5	NP_078925.3:p.(Asp8=)	NC_000011.9:g.66278154T>C	(Likely) benign	2 labs	ee19820c32
19:15303029 NOTCH3 G>A	19	15303029	15303029	G	A	NOTCH3	c.421C>T	NM_000435.3	NP_000426.2:p.(Arg141Cys)	NC_000019.9:g.15303029G>A	(Likely) pathogenic	2 labs	ee2deba011
12:110226403 TRPV4 G>A	12	110226403	110226403	G	A	TRPV4	c.2010C>T	NM_021625.5	NP_067638.3:p.(Leu670=)	NC_000012.11:g.110226403G>A	(Likely) benign	2 labs	ee31633036
1:3329058 PRDM16 G>A	1	3329058	3329058	G	A	PRDM16	c.2297G>A	NM_022114.4	NP_071397.3:p.(Gly766Asp)	NC_000001.10:g.3329058G>A	VUS	3 labs	ee327e1206
11:2591848 KCNQ1 G>A	11	2591848	2591848	G	A	KCNQ1	c.478-10G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2591848G>A	(Likely) benign	2 labs	ee3bdc10b7
2:74590116 DCTN1 C>T	2	74590116	74590116	C	T	DCTN1	c.3529+5G>A	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74590116C>T	(Likely) benign	2 labs	ee5bf971cc
14:105180785 INF2 C>T	14	105180785	105180785	C	T	INF2	c.3286C>T	NM_022489.4	NP_071934.3:p.(Pro1096Ser)	NC_000014.8:g.105180785C>T	(Likely) benign	2 labs	ee6337f4cb
17:7916486 GUCY2D G>A	17	7916486	7916486	G	A	GUCY2D	c.2179G>A	NM_000180.4	NP_000171.1:p.(Gly727Ser)	NC_000017.10:g.7916486G>A	VUS	4 labs	ee6f6176b6
22:29121054 CHEK2 G>A	22	29121054	29121054	G	A	CHEK2	c.503C>T	NM_007194.4	NP_009125.1:p.(Thr168Ile)	NC_000022.10:g.29121054G>A	VUS	2 labs	ee6fdd7ea7
18:77477521 CTDP1 C>T	18	77477521	77477521	C	T	CTDP1	c.2069-14C>T	NM_048368.4	NP_430255.2:p.?	NC_000018.9:g.77477521C>T	(Likely) benign	2 labs	ee713bee0f
9:94830356 SPTLC1 C>A	9	94830356	94830356	C	A	SPTLC1	c.452G>T	NM_001281303.2	NP_001268232.1:p.(Arg151Leu)	NC_000009.11:g.94830356C>A	(Likely) benign	2 labs	ee85ea7b66
4:119736626 SEC24D G>C	4	119736626	119736626	G	C	SEC24D	c.653C>G	NM_001318066.2	NP_001304995.1:p.(Ala218Gly)	NC_000004.11:g.119736626G>C	(Likely) benign	2 labs	ee8702878a
2:47657096 MSH2 GT>G	2	47657096	47657103	GT	G	MSH2	c.1276+23del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47657103del	(Likely) benign	3 labs	ee8ecb0de4
X:130409697 IGSF1 A>G	X	130409697	130409697	A	G	IGSF1	c.2954T>C	NM_001170961.2	NP_001164432.1:p.(Val985Ala)	NC_000023.10:g.130409697A>G	(Likely) benign	2 labs	ee9bdc319f
19:50752333 MYH14 C>T	19	50752333	50752333	C	T	MYH14	c.1419C>T	NM_001145809.2	NP_001139281.1:p.(Arg473=)	NC_000019.9:g.50752333C>T	(Likely) benign	2 labs	ee9c10a515
X:153453566 OPN1MW C>T	X	153453566	153453566	C	T	OPN1MW	c.409+11C>T	NM_000513.2	NP_000504.1:p.?	NC_000023.10:g.153453566C>T	(Likely) benign	2 labs	eea5a56fc5
4:147560457 POU4F2 T>TGGC	4	147560457	147560492	T	TGGC	POU4F2	c.198_200dup	NM_004575.3	NP_004566.2:p.(Gly68dup)	NC_000004.11:g.147560490_147560492dup	(Likely) benign	2 labs	eeafaa406f
1:63067475 ANGPTL3 G>T	1	63067475	63067475	G	T	ANGPTL3	c.757G>T	NM_014495.4	NP_055310.1:p.(Gly253Cys)	NC_000001.10:g.63067475G>T	VUS	2 labs	eec547a648
9:139404385 NOTCH1 T>C	9	139404385	139404385	T	C	NOTCH1	c.2769A>G	NM_017617.5	NP_060087.3:p.(Thr923=)	NC_000009.11:g.139404385T>C	(Likely) benign	2 labs	eec2dcfbbf
15:67457591 SMAD3 T>C	15	67457591	67457591	T	C	SMAD3	c.401T>C	NM_005902.4	NP_005893.1:p.(Val134Ala)	NC_000015.9:g.67457591T>C	VUS	2 labs	eecc7e3157
1:215901644 USH2A G>A	1	215901644	215901644	G	A	USH2A	c.11794C>T	NM_206933.4	NP_996816.3:p.(Leu3932=)	NC_000001.10:g.215901644G>A	(Likely) benign	2 labs	eed048d4dc
X:55028863 APEX2 C>T	X	55028863	55028863	C	T	APEX2	c.421C>T	NM_014481.4	NP_055296.2:p.(Arg141Cys)	NC_000023.10:g.55028863C>T	(Likely) benign	2 labs	eed1a86972
15:89392959 ACAN C>T	15	89392959	89392959	C	T	ACAN	c.2023C>T	NM_013227.4	NP_037359.3:p.(Arg675Ter)	NC_000015.9:g.89392959C>T	(Likely) pathogenic	2 labs	eedcdd551d
2:179600303 TTN G>C	2	179600303	179600303	G	C	TTN	c.14870C>G	NM_001267550.2	NP_001254479.2:p.(Thr4957Ser)	NC_000002.11:g.179600303G>C	(Likely) benign	4 labs	eef99ef753
1:216497659 USH2A T>C	1	216497659	216497659	T	C	USH2A	c.1179A>G	NM_206933.4	NP_996816.3:p.(Gln393=)	NC_000001.10:g.216497659T>C	(Likely) benign	3 labs	ef00638383
4:114276407 ANK2 C>T	4	114276407	114276407	C	T	ANK2	c.6633C>T	NM_001148.6	NP_001139.3:p.(Ala2211=)	NC_000004.11:g.114276407C>T	(Likely) benign	3 labs	ef00c5cbb8
11:6661300 DCHS1 G>A	11	6661300	6661300	G	A	DCHS1	c.1545C>T	NM_003737.4	NP_003728.1:p.(Gly515=)	NC_000011.9:g.6661300G>A	(Likely) benign	3 labs	ef016f0908
10:69881997 MYPN C>T	10	69881997	69881997	C	T	MYPN	c.802C>T	NM_032578.4	NP_115967.2:p.(Pro268Ser)	NC_000010.10:g.69881997C>T	(Likely) benign	2 labs	ef07409cef
11:47360183 MYBPC3 G>A	11	47360183	47360183	G	A	MYBPC3	c.2196C>T	NM_000256.3	NP_000247.2:p.(Asp732=)	NC_000011.9:g.47360183G>A	(Likely) benign	3 labs	ef0dc8682c
6:7569516 DSP C>T	6	7569516	7569516	C	T	DSP	c.1517C>T	NM_004415.4	NP_004406.2:p.(Pro506Leu)	NC_000006.11:g.7569516C>T	VUS	2 labs	ef0ef186d6
X:153698919 PLXNA3 C>T	X	153698919	153698919	C	T	PLXNA3	c.5121C>T	NM_017514.5	NP_059984.3:p.(Ser1707=)	NC_000023.10:g.153698919C>T	(Likely) benign	2 labs	ef1796352f
5:58652640 PDE4D C>T	5	58652640	58652640	C	T	PDE4D	c.33G>A	NM_001197219.2	NP_001184148.1:p.(Thr11=)	NC_000005.9:g.58652640C>T	(Likely) benign	2 labs	ef18efddca
17:40574902 CAVIN1 G>A	17	40574902	40574902	G	A	CAVIN1	c.214C>T	NM_012232.6	NP_036364.2:p.(Gln72Ter)	NC_000017.10:g.40574902G>A	(Likely) pathogenic	2 labs	ef31c1eeb0
4:73178175 ADAMTS3 T>C	4	73178175	73178175	T	C	ADAMTS3	c.1754A>G	NM_014243.3	NP_055058.2:p.(Asn585Ser)	NC_000004.11:g.73178175T>C	(Likely) benign	2 labs	ef38cc3e97
3:14172339 TMEM43 G>A	3	14172339	14172339	G	A	TMEM43	c.180G>A	NM_024334.3	NP_077310.1:p.(Thr60=)	NC_000003.11:g.14172339G>A	(Likely) benign	2 labs	ef41bc204f
10:69925569 MYPN G>A	10	69925569	69925569	G	A	MYPN	c.1594G>A	NM_032578.4	NP_115967.2:p.(Val532Met)	NC_000010.10:g.69925569G>A	VUS	2 labs	ef44c55c55
1:235600671 TBCE G>C	1	235600671	235600671	G	C	TBCE	c.1151G>C	NM_001287801.2	NP_001274730.1:p.(Ser384Thr)	NC_000001.10:g.235600671G>C	(Likely) benign	3 labs	ef5483d5c7
7:91708722 AKAP9 G>A	7	91708722	91708722	G	A	AKAP9	c.7275G>A	NM_005751.5	NP_005742.4:p.(Gln2425=)	NC_000007.13:g.91708722G>A	(Likely) benign	3 labs	ef59cd2fef
1:3322139 PRDM16 C>T	1	3322139	3322139	C	T	PRDM16	c.1113C>T	NM_022114.4	NP_071397.3:p.(Cys371=)	NC_000001.10:g.3322139C>T	(Likely) benign	3 labs	ef5ef9e9ef
11:117232552 CEP164 C>G	11	117232552	117232552	C	G	CEP164	c.395C>G	NM_014956.5	NP_055771.4:p.(Ala132Gly)	NC_000011.9:g.117232552C>G	(Likely) benign	2 labs	ef5fea66bd
7:590229 PRKAR1B T>C	7	590229	590229	T	C	PRKAR1B	c.984A>G	NM_001164761.2	NP_001158233.1:p.(Ala328=)	NC_000007.13:g.590229T>C	(Likely) benign	2 labs	ef624ab307
1:237058726 MTR G>A	1	237058726	237058726	G	A	MTR	c.3474G>A	NM_000254.3	NP_000245.2:p.(Leu1158=)	NC_000001.10:g.237058726G>A	(Likely) benign	2 labs	ef62cce9a3
3:132438619 NPHP3 G>A	3	132438619	132438619	G	A	NPHP3	c.449C>T	NM_153240.5	NP_694972.3:p.(Ala150Val)	NC_000003.11:g.132438619G>A	(Likely) benign	3 labs	ef68ed016a
11:125871721 CDON G>C	11	125871721	125871721	G	C	CDON	c.2051C>G	NM_001243597.2	NP_001230526.1:p.(Thr684Ser)	NC_000011.9:g.125871721G>C	(Likely) benign	2 labs	ef6a546a31
8:100729386 VPS13B AT>A	8	100729386	100729395	AT	A	VPS13B	c.6530-4del	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100729395del	(Likely) benign	2 labs	ef7231d599
2:179391835 TTN G>A	2	179391835	179391835	G	A	TTN	c.100176C>T	NM_133378.4	NP_596869.4:p.(Asp33392=)	NC_000002.11:g.179391835G>A	(Likely) benign	2 labs	ef7263f4aa
13:52549234 ATP7B T>C	13	52549234	52549234	T	C	ATP7B	c.122A>G	NM_000053.4	NP_000044.2:p.(Asn41Ser)	NC_000013.10:g.52549234T>C	(Likely) pathogenic	3 labs	ef8faef114
11:45931646 PEX16 G>A	11	45931646	45931646	G	A	PEX16	c.1035C>T	NM_057174.3	NP_476515.2:p.(His345=)	NC_000011.9:g.45931646G>A	(Likely) benign	2 labs	ef92cc9cb7
2:21237970 APOB C>T	2	21237970	21237970	C	T	APOB	c.3671G>A	NM_000384.3	NP_000375.3:p.(Arg1224Gln)	NC_000002.11:g.21237970C>T	VUS	2 labs	ef96bf6a39
X:85213877 CHM G>A	X	85213877	85213877	G	A	CHM	c.364C>T	NM_001362517.1	NP_001349446.1:p.(Arg122Ter)	NC_000023.10:g.85213877G>A	(Likely) pathogenic	2 labs	ef9b4b38a9
10:73553017 CDH23 G>A	10	73553017	73553017	G	A	CDH23	c.6332G>A	NM_022124.6	NP_071407.4:p.(Gly2111Glu)	NC_000010.10:g.73553017G>A	VUS	2 labs	ef9b58d0a0
18:77477873 CTDP1 G>A	18	77477873	77477873	G	A	CTDP1	c.2274G>A	NM_048368.4	NP_430255.2:p.(Pro758=)	NC_000018.9:g.77477873G>A	(Likely) benign	3 labs	efaa83178e
6:152712715 SYNE1 G>GAAAAAAA	6	152712715	152712729	G	GAAAAAAA	SYNE1	c.7713-19_7713-13dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712723_152712729dup	(Likely) benign	2 labs	efab7d4513
5:80063744 MSH3 A>G	5	80063744	80063744	A	G	MSH3	c.1897-8A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80063744A>G	(Likely) benign	3 labs	efacd1d5cf
2:219677672 CYP27A1 C>T	2	219677672	219677672	C	T	CYP27A1	c.870C>T	NM_000784.4	NP_000775.1:p.(Leu290=)	NC_000002.11:g.219677672C>T	(Likely) benign	2 labs	eface3dc7d
12:53701835 AAAS C>T	12	53701835	53701835	C	T	AAAS	c.1331+1G>A	NM_015665.6	NP_056480.1:p.?	NC_000012.11:g.53701835C>T	(Likely) pathogenic	4 labs	efb2525365
1:11301714 MTOR A>G	1	11301714	11301714	A	G	MTOR	c.1437T>C	NM_004958.4	NP_004949.1:p.(Asp479=)	NC_000001.10:g.11301714A>G	(Likely) benign	2 labs	efba837a53
6:65655779 EYS C>A	6	65655779	65655779	C	A	EYS	c.2288G>T	NM_001292009.2	NP_001278938.1:p.(Trp763Leu)	NC_000006.11:g.65655779C>A	VUS	2 labs	efbc73587d
2:85768222 MAT2A A>G	2	85768222	85768222	A	G	MAT2A	c.108A>G	NM_005911.6	NP_005902.1:p.(Gln36=)	NC_000002.11:g.85768222A>G	(Likely) benign	2 labs	efbd9c3482
18:29126484 DSG2 A>C	18	29126484	29126484	A	C	DSG2	c.3135A>C	NM_001943.5	NP_001934.2:p.(Thr1045=)	NC_000018.9:g.29126484A>C	(Likely) benign	3 labs	efc2f4a2c7
9:139327599 INPP5E G>GCGCCCACCCCTCCAGCCA	9	139327599	139327608	G	GCGCCCACCCCTCCAGCCA	INPP5E	c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327607_139327608insCCTCCAGCCACGCCCACC	(Likely) benign	3 labs	efce47e4b3
15:73615097 HCN4 T>C	15	73615097	73615097	T	C	HCN4	c.3337A>G	NM_005477.3	NP_005468.1:p.(Met1113Val)	NC_000015.9:g.73615097T>C	(Likely) benign	3 labs	efce9e3172
16:57938643 CNGB1 C>T	16	57938643	57938643	C	T	CNGB1	c.2629G>A	NM_001297.5	NP_001288.3:p.(Gly877Arg)	NC_000016.9:g.57938643C>T	VUS	2 labs	efdd39f417
15:72105883 NR2E3 G>A	15	72105883	72105883	G	A	NR2E3	c.902G>A	NM_016346.4	NP_057430.1:p.(Arg301His)	NC_000015.9:g.72105883G>A	VUS	2 labs	efddc6c1f8
X:149783169 MTM1 T>C	X	149783169	149783169	T	C	MTM1	c.339T>C	NM_000252.3	NP_000243.1:p.(Cys113=)	NC_000023.10:g.149783169T>C	(Likely) benign	2 labs	efe114ec5e
1:40771432 COL9A2 C>T	1	40771432	40771432	C	T	COL9A2	c.1062G>A	NM_001852.4	NP_001843.1:p.(Pro354=)	NC_000001.10:g.40771432C>T	(Likely) benign	2 labs	efeba04800
2:179577515 TTN G>A	2	179577515	179577515	G	A	TTN	c.27237C>T	NM_001267550.2	NP_001254479.2:p.(Phe9079=)	NC_000002.11:g.179577515G>A	(Likely) benign	2 labs	efed1e3633
6:7563983 DSP T>G	6	7563983	7563983	T	G	DSP	c.741=	NM_004415.4	NP_004406.2:p.(Ala247=)	NC_000006.11:g.7563983T>G	(Likely) benign	3 labs	f00781bf26
10:85968037 CDHR1 C>T	10	85968037	85968037	C	T	CDHR1	c.1071C>T	NM_033100.4	NP_149091.1:p.(Ser357=)	NC_000010.10:g.85968037C>T	(Likely) benign	2 labs	eff69d6548
2:47612299 EPCAM A>G	2	47612299	47612299	A	G	EPCAM	c.859-6A>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47612299A>G	(Likely) benign	2 labs	f00ac3fa0a
11:108121669 ATM C>T	11	108121669	108121669	C	T	ATM	c.1477C>T	NM_000051.4	NP_000042.3:p.(Arg493Cys)	NC_000011.9:g.108121669C>T	VUS	2 labs	f015588c0d
X:153219947 HCFC1 G>A	X	153219947	153219947	G	A	HCFC1	c.3903C>T	NM_005334.3	NP_005325.2:p.(Thr1301=)	NC_000023.10:g.153219947G>A	(Likely) benign	2 labs	f016c010fc
X:47315839 ZNF41 T>G	X	47315839	47315839	T	G	ZNF41	c.73-42A>C	NM_153380.3	NP_700359.1:p.?	NC_000023.10:g.47315839T>G	(Likely) benign	2 labs	f01c45292c
14:23858270 MYH6 GA>G	14	23858270	23858271	GA	G	MYH6	c.3979-7del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271del	(Likely) benign	2 labs	f024e0ccaf
10:102539321 PAX2 C>T	10	102539321	102539321	C	T	PAX2	c.477C>T	NM_003988.5	NP_003979.2:p.(Thr159=)	NC_000010.10:g.102539321C>T	(Likely) benign	2 labs	f0258b6c72
10:112724573 SHOC2 C>T	10	112724573	112724573	C	T	SHOC2	c.457C>T	NM_007373.4	NP_031399.2:p.(Leu153=)	NC_000010.10:g.112724573C>T	(Likely) benign	2 labs	f03a3c6f12
3:14176384 TMEM43 A>G	3	14176384	14176384	A	G	TMEM43	c.698A>G	NM_024334.3	NP_077310.1:p.(Tyr233Cys)	NC_000003.11:g.14176384A>G	(Likely) benign	4 labs	f03c0e4599
8:10467164 RP1L1 C>T	8	10467164	10467164	C	T	RP1L1	c.4444G>A	NM_178857.6	NP_849188.4:p.(Gly1482Arg)	NC_000008.10:g.10467164C>T	(Likely) benign	2 labs	f03c14de3e
8:1806229 ARHGEF10 A>C	8	1806229	1806229	A	C	ARHGEF10	c.213A>C	NM_001308153.2	NP_001295082.1:p.(Pro71=)	NC_000008.10:g.1806229A>C	(Likely) benign	2 labs	f03d465ab3
14:89341423 TTC8 G>A	14	89341423	89341423	G	A	TTC8	c.1449G>A	NM_001288781.1	NP_001275710.1:p.(Pro483=)	NC_000014.8:g.89341423G>A	(Likely) benign	2 labs	f0438c160d
2:25384456 POMC C>CGCCGCTGCT	2	25384456	25384476	C	CGCCGCTGCT	POMC	c.289_297dup	NM_001035256.3	NP_001030333.1:p.(Ser97_Gly99dup)	NC_000002.11:g.25384468_25384476dup	(Likely) benign	2 labs	f0502ba441
5:218487 SDHA G>A	5	218487	218487	G	A	SDHA	c.17G>A	NM_004168.4	NP_004159.2:p.(Gly6Asp)	NC_000005.9:g.218487G>A	(Likely) benign	2 labs	f055d6c3e6
14:23855315 MYH6 G>A	14	23855315	23855315	G	A	MYH6	c.4985C>T	NM_002471.4	NP_002462.2:p.(Ala1662Val)	NC_000014.8:g.23855315G>A	VUS	2 labs	f057337e27
10:73570316 CDH23 G>C	10	73570316	73570316	G	C	CDH23	c.9067G>C	NM_022124.6	NP_071407.4:p.(Asp3023His)	NC_000010.10:g.73570316G>C	VUS	2 labs	f05d729b04
20:10386146 MKKS C>T	20	10386146	10386146	C	T	MKKS	c.1462G>A	NM_018848.3	NP_061336.1:p.(Ala488Thr)	NC_000020.10:g.10386146C>T	(Likely) benign	2 labs	f077fa0ce5
4:126238667 FAT4 A>G	4	126238667	126238667	A	G	FAT4	c.1101A>G	NM_001291303.3	NP_001278232.1:p.(Val367=)	NC_000004.11:g.126238667A>G	(Likely) benign	3 labs	f078983b24
10:73550052 CDH23 T>C	10	73550052	73550052	T	C	CDH23	c.5931T>C	NM_022124.6	NP_071407.4:p.(Pro1977=)	NC_000010.10:g.73550052T>C	(Likely) benign	2 labs	f07bcce091
12:40740686 LRRK2 A>G	12	40740686	40740686	A	G	LRRK2	c.6241A>G	NM_198578.4	NP_940980.4:p.(Asn2081Asp)	NC_000012.11:g.40740686A>G	(Likely) benign	3 labs	f07beb7a4d
X:31200941 DMD G>A	X	31200941	31200941	G	A	DMD	c.9888C>T	NM_004006.3	NP_003997.2:p.(Pro3296=)	NC_000023.10:g.31200941G>A	(Likely) benign	2 labs	f07eb4e896
2:73651975 ALMS1 T>C	2	73651975	73651975	T	C	ALMS1	c.1185T>C	NM_015120.4	NP_055935.4:p.(Tyr395=)	NC_000002.11:g.73651975T>C	(Likely) benign	3 labs	f0962af7c2
13:110838814 COL4A1 A>G	13	110838814	110838814	A	G	COL4A1	c.1815T>C	NM_001845.6	NP_001836.3:p.(Pro605=)	NC_000013.10:g.110838814A>G	(Likely) benign	3 labs	f09f4f63b0
6:7575044 DSP A>G	6	7575044	7575044	A	G	DSP	c.2436+16A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575044A>G	(Likely) benign	3 labs	f09fb5b28e
6:32012254 TNXB G>A	6	32012254	32012254	G	A	TNXB	c.11161C>T	NM_019105.8	NP_061978.6:p.(Leu3721=)	NC_000006.11:g.32012254G>A	(Likely) benign	2 labs	f0accee56e
17:48272069 COL1A1 C>A	17	48272069	48272069	C	A	COL1A1	c.1461+13G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272069C>A	(Likely) benign	2 labs	f0b93587a4
4:114277676 ANK2 G>A	4	114277676	114277676	G	A	ANK2	c.7902G>A	NM_001148.6	NP_001139.3:p.(Val2634=)	NC_000004.11:g.114277676G>A	(Likely) benign	2 labs	f0bc05c8c8
10:100185443 HPS1 TG>T	10	100185443	100185446	TG	T	HPS1	c.1189del	NM_000195.5	NP_000186.2:p.(Gln397SerfsTer2)	NC_000010.10:g.100185446del	(Likely) pathogenic	3 labs	f0c8218f97
4:13371584 RAB28 A>G	4	13371584	13371584	A	G	RAB28	c.579T>C	NM_004249.4	NP_004240.2:p.(Ile193=)	NC_000004.11:g.13371584A>G	(Likely) benign	2 labs	f0c9e3871c
1:11316112 MTOR A>T	1	11316112	11316112	A	T	MTOR	c.642T>A	NM_004958.4	NP_004949.1:p.(Arg214=)	NC_000001.10:g.11316112A>T	(Likely) benign	2 labs	f0cab851c4
16:57974168 CNGB1 G>A	16	57974168	57974168	G	A	CNGB1	c.1179C>T	NM_001297.5	NP_001288.3:p.(Asp393=)	NC_000016.9:g.57974168G>A	(Likely) benign	2 labs	f0deb1ba9d
13:32930673 BRCA2 C>T	13	32930673	32930673	C	T	BRCA2	c.7544C>T	NM_000059.4	NP_000050.3:p.(Thr2515Ile)	NC_000013.10:g.32930673C>T	(Likely) benign	7 labs	f0ff301e2a
15:48725143 FBN1 C>T	15	48725143	48725143	C	T	FBN1	c.6659G>A	NM_000138.5	NP_000129.3:p.(Arg2220Gln)	NC_000015.9:g.48725143C>T	VUS	4 labs	f0fdb74c7e
2:179484939 TTN C>T	2	179484939	179484939	C	T	TTN	c.46304+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484939C>T	VUS	2 labs	f10917f6a4
X:31165654 DMD TAAAAAAGAAA>T	X	31165654	31165674	TAAAAAAGAAA	T	DMD	c.10185-29_10185-20del	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31165665_31165674del	(Likely) benign	2 labs	f1116cd8f2
3:30729961 TGFBR2 T>C	3	30729961	30729961	T	C	TGFBR2	c.1557T>C	NM_001024847.2	NP_001020018.1:p.(Asp519=)	NC_000003.11:g.30729961T>C	(Likely) benign	2 labs	f11380659d
12:48375911 COL2A1 G>A	12	48375911	48375911	G	A	COL2A1	c.2334C>T	NM_001844.5	NP_001835.3:p.(Ala778=)	NC_000012.11:g.48375911G>A	(Likely) benign	4 labs	f11b58c18e
18:21134772 NPC1 G>A	18	21134772	21134772	G	A	NPC1	c.1503C>T	NM_000271.5	NP_000262.2:p.(Asp501=)	NC_000018.9:g.21134772G>A	(Likely) benign	2 labs	f11c836646
18:77440160 CTDP1 G>C	18	77440160	77440160	G	C	CTDP1	c.213G>C	NM_001318511.2	NP_001305440.1:p.(Gly71=)	NC_000018.9:g.77440160G>C	(Likely) benign	2 labs	f121db1fcd
6:72962456 RIMS1 T>C	6	72962456	72962456	T	C	RIMS1	c.2699-8T>C	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72962456T>C	(Likely) benign	2 labs	f1238106cb
2:167168138 SCN9A A>G	2	167168138	167168138	A	G	SCN9A	c.129T>C	NM_002977.3	NP_002968.1:p.(Asp43=)	NC_000002.11:g.167168138A>G	(Likely) benign	3 labs	f12697917a
18:42531070 SETBP1 C>T	18	42531070	42531070	C	T	SETBP1	c.1765C>T	NM_015559.3	NP_056374.2:p.(Arg589Ter)	NC_000018.9:g.42531070C>T	(Likely) pathogenic	2 labs	f12ed2d748
12:49691250 PRPH A>G	12	49691250	49691250	A	G	PRPH	c.1107A>G	NM_006262.4	NP_006253.2:p.(Lys369=)	NC_000012.11:g.49691250A>G	(Likely) benign	2 labs	f12e3b73d7
11:47364189 MYBPC3 C>T	11	47364189	47364189	C	T	MYBPC3	c.1564G>A	NM_000256.3	NP_000247.2:p.(Ala522Thr)	NC_000011.9:g.47364189C>T	(Likely) benign	4 labs	f13552704f
2:179439486 TTN A>C	2	179439486	179439486	A	C	TTN	c.71373T>G	NM_001267550.2	NP_001254479.2:p.(Leu23791=)	NC_000002.11:g.179439486A>C	(Likely) benign	3 labs	f137d0af8c
3:37067240 MLH1 T>A	3	37067240	37067240	T	A	MLH1	c.1151T>A	NM_000249.4	NP_000240.1:p.(Val384Asp)	NC_000003.11:g.37067240T>A	(Likely) benign	3 labs	f13c67edca
19:30193878 C19orf12 GCCC>G	19	30193878	30193885	GCCC	G	C19orf12	c.197_199del	NM_001031726.3	NP_001026896.2:p.(Gly66del)	NC_000019.9:g.30193883_30193885del	(Likely) pathogenic	2 labs	f1421f7dff
17:42985433 GFAP T>C	17	42985433	42985433	T	C	GFAP	c.1376A>G	NM_001363846.2	NP_001350775.1:p.(Glu459Gly)	NC_000017.10:g.42985433T>C	VUS	2 labs	f145460c68
10:61830381 ANK3 G>A	10	61830381	61830381	G	A	ANK3	c.10258C>T	NM_020987.5	NP_066267.2:p.(Leu3420=)	NC_000010.10:g.61830381G>A	(Likely) benign	2 labs	f149941f2b
1:216595247 USH2A C>T	1	216595247	216595247	C	T	USH2A	c.432G>A	NM_206933.4	NP_996816.3:p.(Leu144=)	NC_000001.10:g.216595247C>T	(Likely) benign	2 labs	f1506c0418
10:121432157 BAG3 G>A	10	121432157	121432157	G	A	BAG3	c.898G>A	NM_004281.4	NP_004272.2:p.(Asp300Asn)	NC_000010.10:g.121432157G>A	(Likely) benign	3 labs	f1536f8a97
16:23634308 PALB2 G>A	16	23634308	23634308	G	A	PALB2	c.2978C>T	NM_024675.4	NP_078951.2:p.(Thr993Met)	NC_000016.9:g.23634308G>A	(Likely) benign	2 labs	f154375f2a
15:93482864 CHD2 A>G	15	93482864	93482864	A	G	CHD2	c.608A>G	NM_001271.4	NP_001262.3:p.(Lys203Arg)	NC_000015.9:g.93482864A>G	(Likely) benign	4 labs	f158846d30
3:38646297 SCN5A G>A	3	38646297	38646297	G	A	SCN5A	c.1441C>T	NM_198056.3	NP_932173.1:p.(Arg481Trp)	NC_000003.11:g.38646297G>A	(Likely) benign	4 labs	f15a0efd4c
11:6647875 DCHS1 C>G	11	6647875	6647875	C	G	DCHS1	c.6272G>C	NM_003737.4	NP_003728.1:p.(Arg2091Thr)	NC_000011.9:g.6647875C>G	(Likely) benign	2 labs	f1614babbe
2:170089934 LRP2 C>T	2	170089934	170089934	C	T	LRP2	c.5085G>A	NM_004525.3	NP_004516.2:p.(Ser1695=)	NC_000002.11:g.170089934C>T	(Likely) benign	2 labs	f161b46d07
2:179484561 TTN C>T	2	179484561	179484561	C	T	TTN	c.46483G>A	NM_001267550.2	NP_001254479.2:p.(Ala15495Thr)	NC_000002.11:g.179484561C>T	VUS	2 labs	f16475b889
11:108137891 ATM C>T	11	108137891	108137891	C	T	ATM	c.2467-7C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108137891C>T	(Likely) benign	2 labs	f1693f3a8f
17:33446621 RAD51D G>C	17	33446621	33446621	G	C	RAD51D	c.12C>G	NM_002878.4	NP_002869.3:p.(Leu4=)	NC_000017.10:g.33446621G>C	(Likely) benign	2 labs	f16dceb9fa
6:152577752 SYNE1 T>C	6	152577752	152577752	T	C	SYNE1	c.19104+17A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152577752T>C	(Likely) benign	2 labs	f16f78370c
2:238244781 COL6A3 T>C	2	238244781	238244781	T	C	COL6A3	c.8962A>G	NM_004369.4	NP_004360.2:p.(Met2988Val)	NC_000002.11:g.238244781T>C	(Likely) benign	2 labs	f17368fd75
11:47369050 MYBPC3 G>T	11	47369050	47369050	G	T	MYBPC3	c.852-20C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369050G>T	(Likely) benign	4 labs	f174b2c0a6
17:59793412 BRIP1 G>A	17	59793412	59793412	G	A	BRIP1	c.2392C>T	NM_032043.3	NP_114432.2:p.(Arg798Ter)	NC_000017.10:g.59793412G>A	(Likely) pathogenic	3 labs	f17916689d
1:235969490 LYST A>G	1	235969490	235969490	A	G	LYST	c.2946T>C	NM_001301365.1	NP_001288294.1:p.(Tyr982=)	NC_000001.10:g.235969490A>G	(Likely) benign	2 labs	f18bde68a8
3:38622533 SCN5A G>A	3	38622533	38622533	G	A	SCN5A	c.3117C>T	NM_198056.3	NP_932173.1:p.(Pro1039=)	NC_000003.11:g.38622533G>A	(Likely) benign	2 labs	f18e3f0bb1
16:88788309 PIEZO1 C>G	16	88788309	88788309	C	G	PIEZO1	c.5121G>C	NM_001142864.4	NP_001136336.2:p.(Ser1707=)	NC_000016.9:g.88788309C>G	(Likely) benign	2 labs	f18f9788f0
10:18690965 CACNB2 A>G	10	18690965	18690965	A	G	CACNB2	c.161A>G	NM_000724.4	NP_000715.2:p.(Lys54Arg)	NC_000010.10:g.18690965A>G	VUS	2 labs	f19210db64
9:117165114 WHRN G>T	9	117165114	117165114	G	T	WHRN	c.2644C>A	NM_015404.4	NP_056219.3:p.(Arg882Ser)	NC_000009.11:g.117165114G>T	VUS	3 labs	f1963cb360
5:180052946 FLT4 G>A	5	180052946	180052946	G	A	FLT4	c.1344C>T	NM_182925.5	NP_891555.2:p.(Tyr448=)	NC_000005.9:g.180052946G>A	(Likely) benign	2 labs	f196b63a8c
13:39433531 FREM2 G>A	13	39433531	39433531	G	A	FREM2	c.7323G>A	NM_207361.6	NP_997244.4:p.(Ala2441=)	NC_000013.10:g.39433531G>A	(Likely) benign	3 labs	f1a97d2d10
9:139401289 NOTCH1 C>G	9	139401289	139401289	C	G	NOTCH1	c.3780G>C	NM_017617.5	NP_060087.3:p.(Val1260=)	NC_000009.11:g.139401289C>G	(Likely) benign	4 labs	f1afa9233f
6:56328360 DST T>C	6	56328360	56328360	T	C	DST	c.16530+3A>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56328360T>C	(Likely) benign	2 labs	f1b7197d06
1:68912536 RPE65 G>T	1	68912536	68912536	G	T	RPE65	c.102C>A	NM_000329.3	NP_000320.1:p.(Ile34=)	NC_000001.10:g.68912536G>T	(Likely) benign	2 labs	f1b9ddd13e
8:145011426 PLEC G>C	8	145011426	145011426	G	C	PLEC	c.676-16C>G	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145011426G>C	(Likely) benign	2 labs	f1bc958528
5:137221871 MYOT G>A	5	137221871	137221871	G	A	MYOT	c.1159G>A	NM_006790.3	NP_006781.1:p.(Glu387Lys)	NC_000005.9:g.137221871G>A	VUS	2 labs	f1be79476e
18:29099916 DSG2 G>A	18	29099916	29099916	G	A	DSG2	c.216+16G>A	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29099916G>A	(Likely) benign	2 labs	f1c239f2bc
8:100829841 VPS13B A>G	8	100829841	100829841	A	G	VPS13B	c.8246A>G	NM_017890.5	NP_060360.3:p.(Tyr2749Cys)	NC_000008.10:g.100829841A>G	(Likely) benign	2 labs	f1c59e5e65
3:38835415 SCN10A A>G	3	38835415	38835415	A	G	SCN10A	c.87T>C	NM_006514.4	NP_006505.4:p.(Ala29=)	NC_000003.11:g.38835415A>G	(Likely) benign	2 labs	f1c780a8ba
15:73617804 HCN4 G>T	15	73617804	73617804	G	T	HCN4	c.1591-19C>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617804G>T	(Likely) benign	2 labs	f1c95460a4
16:1574794 IFT140 A>G	16	1574794	1574794	A	G	IFT140	c.2988T>C	NM_014714.4	NP_055529.2:p.(Asn996=)	NC_000016.9:g.1574794A>G	(Likely) benign	2 labs	f1d1d630e8
14:23858275 MYH6 G>A	14	23858275	23858275	G	A	MYH6	c.3979-11C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858275G>A	(Likely) benign	2 labs	f1d8cccdb3
15:23892707 MAGEL2 A>G	15	23892707	23892707	A	G	MAGEL2	c.183T>C	NM_019066.5	NP_061939.3:p.(Pro61=)	NC_000015.9:g.23892707A>G	(Likely) benign	2 labs	f1e17c1fe1
20:10394156 MKKS G>A	20	10394156	10394156	G	A	MKKS	c.7C>T	NM_018848.3	NP_061336.1:p.(Arg3Cys)	NC_000020.10:g.10394156G>A	VUS	2 labs	f1ec051cf0
17:78078762 GAA GGT>G	17	78078762	78078765	GGT	G	GAA	c.379_380del	NM_000152.5	NP_000143.2:p.(Cys127LeufsTer18)	NC_000017.10:g.78078764_78078765del	(Likely) pathogenic	2 labs	f1f01939f0
15:80465358 FAH C>T	15	80465358	80465358	C	T	FAH	c.709C>T	NM_000137.4	NP_000128.1:p.(Arg237Ter)	NC_000015.9:g.80465358C>T	(Likely) pathogenic	2 labs	f1f040d633
8:134144113 TG C>T	8	134144113	134144113	C	T	TG	c.7920C>T	NM_003235.5	NP_003226.4:p.(Tyr2640=)	NC_000008.10:g.134144113C>T	(Likely) benign	2 labs	f1f630cdd4
2:179574499 TTN C>T	2	179574499	179574499	C	T	TTN	c.28547G>A	NM_001267550.2	NP_001254479.2:p.(Arg9516His)	NC_000002.11:g.179574499C>T	(Likely) benign	3 labs	f206646bbd
6:7585795 DSP C>A	6	7585795	7585795	C	A	DSP	c.8300C>A	NM_004415.4	NP_004406.2:p.(Thr2767Asn)	NC_000006.11:g.7585795C>A	(Likely) benign	4 labs	f20835456a
12:110234351 TRPV4 C>G	12	110234351	110234351	C	G	TRPV4	c.1311G>C	NM_021625.5	NP_067638.3:p.(Leu437=)	NC_000012.11:g.110234351C>G	(Likely) benign	2 labs	f209fb6cee
1:201333464 TNNT2 G>A	1	201333464	201333464	G	A	TNNT2	c.421C>T	NM_001276347.2	NP_001263276.1:p.(Arg141Trp)	NC_000001.10:g.201333464G>A	(Likely) pathogenic	3 labs	f20b3291c0
5:60194149 ERCC8 T>C	5	60194149	60194149	T	C	ERCC8	c.623A>G	NM_001007233.3	NP_001007234.1:p.(Asp208Gly)	NC_000005.9:g.60194149T>C	(Likely) pathogenic	3 labs	f21489efcb
1:16901021 NBPF1 A>G	1	16901021	16901021	A	G	NBPF1	c.2359T>C	NM_017940.6	NP_060410.3:p.(Ser787Pro)	NC_000001.10:g.16901021A>G	(Likely) benign	2 labs	f234af7ef7
7:128485284 FLNC C>A	7	128485284	128485284	C	A	FLNC	c.3765C>A	NM_001458.5	NP_001449.3:p.(Val1255=)	NC_000007.13:g.128485284C>A	(Likely) benign	3 labs	f238394114
7:150649603 KCNH2 G>A	7	150649603	150649603	G	A	KCNH2	c.1467C>T	NM_000238.4	NP_000229.1:p.(Ile489=)	NC_000007.13:g.150649603G>A	(Likely) benign	2 labs	f23ec0b76c
1:237955581 RYR2 G>A	1	237955581	237955581	G	A	RYR2	c.13740G>A	NM_001035.3	NP_001026.2:p.(Thr4580=)	NC_000001.10:g.237955581G>A	(Likely) benign	3 labs	f2459b8b96
17:41249363 BRCA1 TA>T	17	41249363	41249370	TA	T	BRCA1	c.548-58del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249370del	(Likely) benign	4 labs	f24a25327a
7:138602716 KIAA1549 G>A	7	138602716	138602716	G	A	KIAA1549	c.1656C>T	NM_020910.3	NP_065961.2:p.(Ser552=)	NC_000007.13:g.138602716G>A	(Likely) benign	2 labs	f24ea207a3
19:54621735 PRPF31 A>AC	19	54621735	54621736	A	AC	PRPF31	c.77_78insC	NM_015629.4	NP_056444.3:p.(Glu26AspfsTer32)	NC_000019.9:g.54621735_54621736insC	(Likely) pathogenic	2 labs	f24f35d48b
2:179594224 TTN C>G	2	179594224	179594224	C	G	TTN	c.18659G>C	NM_001267550.2	NP_001254479.2:p.(Cys6220Ser)	NC_000002.11:g.179594224C>G	(Likely) benign	4 labs	f2504bea1e
2:241689865 KIF1A C>G	2	241689865	241689865	C	G	KIF1A	c.2958G>C	NM_001244008.2	NP_001230937.1:p.(Val986=)	NC_000002.11:g.241689865C>G	(Likely) benign	3 labs	f258bd0fa0
10:89717608 PTEN A>G	10	89717608	89717608	A	G	PTEN	c.635-2A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89717608A>G	(Likely) pathogenic	2 labs	f25a704d7a
9:139401375 NOTCH1 C>T	9	139401375	139401375	C	T	NOTCH1	c.3694G>A	NM_017617.5	NP_060087.3:p.(Val1232Met)	NC_000009.11:g.139401375C>T	(Likely) benign	2 labs	f25abca8b4
9:137671954 COL5A1 G>A	9	137671954	137671954	G	A	COL5A1	c.2392G>A	NM_000093.5	NP_000084.3:p.(Asp798Asn)	NC_000009.11:g.137671954G>A	VUS	2 labs	f2601bc4b4
2:39241107 SOS1 G>A	2	39241107	39241107	G	A	SOS1	c.1964C>T	NM_005633.4	NP_005624.2:p.(Pro655Leu)	NC_000002.11:g.39241107G>A	(Likely) benign	3 labs	f2618bfe12
13:32899218 BRCA2 A>C	13	32899218	32899218	A	C	BRCA2	c.322A>C	NM_000059.4	NP_000050.3:p.(Asn108His)	NC_000013.10:g.32899218A>C	(Likely) benign	3 labs	f2657a5abc
16:2129192 TSC2 G>T	16	2129192	2129192	G	T	TSC2	c.3126G>T	NM_000548.5	NP_000539.2:p.(Pro1042=)	NC_000016.9:g.2129192G>T	(Likely) benign	2 labs	f2671d12ad
15:45403730 DUOX2 G>A	15	45403730	45403730	G	A	DUOX2	c.567C>T	NM_014080.5	NP_054799.4:p.(His189=)	NC_000015.9:g.45403730G>A	(Likely) benign	2 labs	f26cb4a357
3:128971751 COPG1 C>T	3	128971751	128971751	C	T	COPG1	c.276C>T	NM_016128.4	NP_057212.1:p.(Ile92=)	NC_000003.11:g.128971751C>T	(Likely) benign	2 labs	f26d06589e
2:179436734 TTN C>T	2	179436734	179436734	C	T	TTN	c.74125G>A	NM_001267550.2	NP_001254479.2:p.(Ala24709Thr)	NC_000002.11:g.179436734C>T	VUS	2 labs	f28042f76e
2:179565931 TTN C>T	2	179565931	179565931	C	T	TTN	c.30599-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179565931C>T	VUS	2 labs	f2a3519e74
3:58109430 FLNB TA>T	3	58109430	58109453	TA	T	FLNB	c.3724+36del	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58109453del	(Likely) benign	2 labs	f2a3d40187
7:42066022 GLI3 G>A	7	42066022	42066022	G	A	GLI3	c.1029-11C>T	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42066022G>A	(Likely) benign	2 labs	f2a73cda50
20:49508508 ADNP C>T	20	49508508	49508508	C	T	ADNP	c.2743G>A	NM_015339.5	NP_056154.1:p.(Val915Ile)	NC_000020.10:g.49508508C>T	(Likely) benign	3 labs	f2aab8c973
12:88505073 CEP290 A>G	12	88505073	88505073	A	G	CEP290	c.2273T>C	NM_025114.4	NP_079390.3:p.(Val758Ala)	NC_000012.11:g.88505073A>G	VUS	2 labs	f2b4bc97d7
11:68700821 IGHMBP2 C>T	11	68700821	68700821	C	T	IGHMBP2	c.1290C>T	NM_002180.3	NP_002171.2:p.(Tyr430=)	NC_000011.9:g.68700821C>T	(Likely) benign	2 labs	f2b57b52a0
10:53921640 PRKG1 G>A	10	53921640	53921640	G	A	PRKG1	c.957-9G>A	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53921640G>A	(Likely) benign	3 labs	f2bd77f651
2:220283409 DES G>A	2	220283409	220283409	G	A	DES	c.225G>A	NM_001927.4	NP_001918.3:p.(Gly75=)	NC_000002.11:g.220283409G>A	(Likely) benign	2 labs	f2bde2de5c
2:179505998 TTN T>A	2	179505998	179505998	T	A	TTN	c.40603A>T	NM_001267550.2	NP_001254479.2:p.(Lys13535Ter)	NC_000002.11:g.179505998T>A	(Likely) pathogenic	3 labs	f2cd83a934
2:21224843 APOB G>A	2	21224843	21224843	G	A	APOB	c.13451C>T	NM_000384.3	NP_000375.3:p.(Thr4484Met)	NC_000002.11:g.21224843G>A	(Likely) benign	2 labs	f2cd8e5234
13:52518419 ATP7B A>G	13	52518419	52518419	A	G	ATP7B	c.3069T>C	NM_000053.4	NP_000044.2:p.(Thr1023=)	NC_000013.10:g.52518419A>G	(Likely) benign	2 labs	f2d5add1ac
6:70992607 COL9A1 G>C	6	70992607	70992607	G	C	COL9A1	c.795C>G	NM_001851.6	NP_001842.3:p.(Thr265=)	NC_000006.11:g.70992607G>C	(Likely) benign	2 labs	f2e2ed26fa
2:27672200 IFT172 C>T	2	27672200	27672200	C	T	IFT172	c.4272G>A	NM_015662.3	NP_056477.1:p.(Gln1424=)	NC_000002.11:g.27672200C>T	(Likely) benign	2 labs	f2e3f2690f
5:1268700 TERT C>T	5	1268700	1268700	C	T	TERT	c.2517G>A	NM_198253.3	NP_937983.2:p.(Thr839=)	NC_000005.9:g.1268700C>T	(Likely) benign	3 labs	f2e42c2dfc
8:67988704 CSPP1 A>G	8	67988704	67988704	A	G	CSPP1	c.100-13A>G	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.67988704A>G	(Likely) benign	2 labs	f2e49074c9
15:72643444 HEXA A>C	15	72643444	72643444	A	C	HEXA	c.672+30T>G	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72643444A>C	(Likely) benign	2 labs	f2e9f05ac5
2:238249717 COL6A3 G>A	2	238249717	238249717	G	A	COL6A3	c.7842C>T	NM_004369.4	NP_004360.2:p.(Ser2614=)	NC_000002.11:g.238249717G>A	(Likely) benign	2 labs	f2f49c954a
X:153594384 FLNA G>A	X	153594384	153594384	G	A	FLNA	c.1429+8C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153594384G>A	(Likely) benign	4 labs	f2f56a119c
2:179401819 TTN C>T	2	179401819	179401819	C	T	TTN	c.100017G>A	NM_001267550.2	NP_001254479.2:p.(Trp33339Ter)	NC_000002.11:g.179401819C>T	(Likely) pathogenic	2 labs	f2f59222d6
8:61765566 CHD7 A>G	8	61765566	61765566	A	G	CHD7	c.6282A>G	NM_017780.4	NP_060250.2:p.(Gly2094=)	NC_000008.10:g.61765566A>G	(Likely) benign	3 labs	f2fe6bf55a
16:16248868 ABCC6 G>A	16	16248868	16248868	G	A	ABCC6	c.3561C>T	NM_001351800.1	NP_001338729.1:p.(Thr1187=)	NC_000016.9:g.16248868G>A	(Likely) benign	3 labs	f30414d583
5:149310734 PDE6A G>GA	5	149310734	149310740	G	GA	PDE6A	c.718-4dup	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149310740dup	(Likely) benign	2 labs	f30958cd1f
3:129251104 RHO G>A	3	129251104	129251104	G	A	RHO	c.541G>A	NM_000539.3	NP_000530.1:p.(Glu181Lys)	NC_000003.11:g.129251104G>A	(Likely) pathogenic	2 labs	f30f7c0be4
2:179530527 TTN A>G	2	179530527	179530527	A	G	TTN	c.35876-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179530527A>G	(Likely) benign	2 labs	f3160c932a
13:110830248 COL4A1 G>A	13	110830248	110830248	G	A	COL4A1	c.2657C>T	NM_001845.6	NP_001836.3:p.(Thr886Ile)	NC_000013.10:g.110830248G>A	VUS	2 labs	f3204abc3c
2:179523737 TTN G>A	2	179523737	179523737	G	A	TTN	c.37448C>T	NM_001267550.2	NP_001254479.2:p.(Pro12483Leu)	NC_000002.11:g.179523737G>A	VUS	3 labs	f320c858fd
7:150644404 KCNH2 G>T	7	150644404	150644404	G	T	KCNH2	c.3152+12C>A	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150644404G>T	(Likely) benign	3 labs	f328a666ae
2:189858791 COL3A1 G>C	2	189858791	189858791	G	C	COL3A1	c.1177G>C	NM_000090.4	NP_000081.2:p.(Gly393Arg)	NC_000002.11:g.189858791G>C	(Likely) pathogenic	2 labs	f32a9f0884
7:140434574 BRAF CA>C	7	140434574	140434585	CA	C	BRAF	c.2128-5del	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434585del	(Likely) benign	4 labs	f339bb2e5e
13:77566238 CLN5 C>T	13	77566238	77566238	C	T	CLN5	c.5C>T	NM_006493.4	NP_006484.2:p.(Ala2Val)	NC_000013.10:g.77566238C>T	(Likely) benign	2 labs	f3414030d7
8:61693960 CHD7 G>A	8	61693960	61693960	G	A	CHD7	c.2067G>A	NM_017780.4	NP_060250.2:p.(Thr689=)	NC_000008.10:g.61693960G>A	(Likely) benign	3 labs	f343ac903c
16:81942175 PLCG2 A>G	16	81942175	81942175	A	G	PLCG2	c.1712A>G	NM_002661.5	NP_002652.2:p.(Asn571Ser)	NC_000016.9:g.81942175A>G	(Likely) benign	4 labs	f34bfb91d9
16:3646275 SLX4 C>T	16	3646275	3646275	C	T	SLX4	c.1803G>A	NM_032444.4	NP_115820.2:p.(Ser601=)	NC_000016.9:g.3646275C>T	(Likely) benign	2 labs	f35248e50c
12:48374388 COL2A1 G>A	12	48374388	48374388	G	A	COL2A1	c.2574C>T	NM_001844.5	NP_001835.3:p.(Gly858=)	NC_000012.11:g.48374388G>A	(Likely) benign	3 labs	f353c3ab57
12:133252704 POLE A>G	12	133252704	133252704	A	G	POLE	c.996T>C	NM_006231.4	NP_006222.2:p.(Phe332=)	NC_000012.11:g.133252704A>G	(Likely) benign	2 labs	f358f052e1
2:179417400 TTN G>A	2	179417400	179417400	G	A	TTN	c.82523C>T	NM_133378.4	NP_596869.4:p.(Thr27508Met)	NC_000002.11:g.179417400G>A	VUS	2 labs	f359f666d4
7:103293165 RELN C>T	7	103293165	103293165	C	T	RELN	c.1596G>A	NM_005045.4	NP_005036.2:p.(Gln532=)	NC_000007.13:g.103293165C>T	(Likely) benign	2 labs	f36a62e4c1
9:137710837 COL5A1 C>T	9	137710837	137710837	C	T	COL5A1	c.4393-9C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710837C>T	(Likely) benign	3 labs	f373d62c01
16:88497528 ZNF469 C>T	16	88497528	88497528	C	T	ZNF469	c.3650C>T	NM_001367624.2	NP_001354553.1:p.(Pro1217Leu)	NC_000016.9:g.88497528C>T	(Likely) benign	2 labs	f37f88b6af
12:49431962 KMT2D A>G	12	49431962	49431962	A	G	KMT2D	c.9177T>C	NM_003482.4	NP_003473.3:p.(Thr3059=)	NC_000012.11:g.49431962A>G	(Likely) benign	2 labs	f3832680c4
12:8802179 MFAP5 G>A	12	8802179	8802179	G	A	MFAP5	c.336-9C>T	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8802179G>A	(Likely) benign	2 labs	f3857447c7
14:102467991 DYNC1H1 G>A	14	102467991	102467991	G	A	DYNC1H1	c.4515G>A	NM_001376.5	NP_001367.2:p.(Ser1505=)	NC_000014.8:g.102467991G>A	(Likely) benign	2 labs	f38e56d578
11:76890919 MYO7A C>T	11	76890919	76890919	C	T	MYO7A	c.2506C>T	NM_000260.4	NP_000251.3:p.(Arg836Cys)	NC_000011.9:g.76890919C>T	VUS	3 labs	f39346120a
9:4118208 GLIS3 A>G	9	4118208	4118208	A	G	GLIS3	c.1270T>C	NM_001042413.2	NP_001035878.1:p.(Ser424Pro)	NC_000009.11:g.4118208A>G	(Likely) benign	2 labs	f3b93be06c
11:47364270 MYBPC3 G>C	11	47364270	47364270	G	C	MYBPC3	c.1483C>G	NM_000256.3	NP_000247.2:p.(Arg495Gly)	NC_000011.9:g.47364270G>C	(Likely) pathogenic	2 labs	f3d1406832
1:3342157 PRDM16 C>T	1	3342157	3342157	C	T	PRDM16	c.2952C>T	NM_022114.4	NP_071397.3:p.(Cys984=)	NC_000001.10:g.3342157C>T	(Likely) benign	2 labs	f3bdcbb47b
1:6533387 PLEKHG5 T>C	1	6533387	6533387	T	C	PLEKHG5	c.719A>G	NM_198681.4	NP_941374.3:p.(Asp240Gly)	NC_000001.10:g.6533387T>C	VUS	2 labs	f3c8714d35
3:37090392 MLH1 C>G	3	37090392	37090392	C	G	MLH1	c.1990-3C>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37090392C>G	(Likely) pathogenic	2 labs	f3ceb97125
1:215963635 USH2A A>C	1	215963635	215963635	A	C	USH2A	c.9959-11T>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215963635A>C	(Likely) benign	2 labs	f3d3059c83
2:179648808 TTN G>A	2	179648808	179648808	G	A	TTN	c.2764C>T	NM_001267550.2	NP_001254479.2:p.(Arg922Cys)	NC_000002.11:g.179648808G>A	(Likely) benign	2 labs	f3d7f10350
16:68729213 CDH3 C>T	16	68729213	68729213	C	T	CDH3	c.2058C>T	NM_001793.6	NP_001784.2:p.(Pro686=)	NC_000016.9:g.68729213C>T	(Likely) benign	2 labs	f3dcc5a161
7:128470985 FLNC G>A	7	128470985	128470985	G	A	FLNC	c.294G>A	NM_001458.5	NP_001449.3:p.(Glu98=)	NC_000007.13:g.128470985G>A	(Likely) benign	2 labs	f3dfc2c05a
2:179458827 TTN A>G	2	179458827	179458827	A	G	TTN	c.58293T>C	NM_001267550.2	NP_001254479.2:p.(Asp19431=)	NC_000002.11:g.179458827A>G	(Likely) benign	2 labs	f3e34f9caa
11:108151707 ATM T>TTA	11	108151707	108151708	T	TTA	ATM	c.3403-15_3403-14insTA	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151707_108151708insTA	(Likely) benign	4 labs	f3edec51e5
11:76901855 MYO7A C>T	11	76901855	76901855	C	T	MYO7A	c.3864C>T	NM_000260.4	NP_000251.3:p.(Ala1288=)	NC_000011.9:g.76901855C>T	(Likely) benign	2 labs	f3ff32b54f
19:16606596 CALR3 C>T	19	16606596	16606596	C	T	CALR3	c.159G>A	NM_145046.5	NP_659483.2:p.(Ser53=)	NC_000019.9:g.16606596C>T	(Likely) benign	2 labs	f409988d05
2:179396159 TTN C>T	2	179396159	179396159	C	T	TTN	c.105183G>A	NM_001267550.2	NP_001254479.2:p.(Ala35061=)	NC_000002.11:g.179396159C>T	(Likely) benign	3 labs	f414719903
11:17539012 USH1C C>T	11	17539012	17539012	C	T	USH1C	c.1220G>A	NM_005709.4	NP_005700.2:p.(Gly407Glu)	NC_000011.9:g.17539012C>T	(Likely) benign	2 labs	f412074510
15:44943798 SPG11 G>A	15	44943798	44943798	G	A	SPG11	c.1347C>T	NM_025137.4	NP_079413.3:p.(Thr449=)	NC_000015.9:g.44943798G>A	(Likely) benign	2 labs	f419c6eb40
7:92136447 PEX1 A>G	7	92136447	92136447	A	G	PEX1	c.1047-7T>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92136447A>G	(Likely) benign	2 labs	f41a48c9f1
4:122754409 BBS7 A>T	4	122754409	122754409	A	T	BBS7	c.1653T>A	NM_176824.3	NP_789794.1:p.(Asp551Glu)	NC_000004.11:g.122754409A>T	(Likely) benign	2 labs	f41e68d443
2:29294938 PCARE G>A	2	29294938	29294938	G	A	PCARE	c.2190C>T	NM_001029883.3	NP_001025054.1:p.(Ser730=)	NC_000002.11:g.29294938G>A	(Likely) benign	2 labs	f42af0c142
1:196658763 CFH T>G	1	196658763	196658763	T	G	CFH	c.1159+19T>G	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196658763T>G	(Likely) benign	3 labs	f4512719a1
13:32890668 BRCA2 T>C	13	32890668	32890668	T	C	BRCA2	c.67+4T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890668T>C	(Likely) benign	4 labs	f4582999de
15:31294451 TRPM1 C>G	15	31294451	31294451	C	G	TRPM1	c.4503G>C	NM_001252020.2	NP_001238949.1:p.(Thr1501=)	NC_000015.9:g.31294451C>G	(Likely) benign	2 labs	f46d684f95
2:179410718 TTN C>T	2	179410718	179410718	C	T	TTN	c.95245G>A	NM_001267550.2	NP_001254479.2:p.(Glu31749Lys)	NC_000002.11:g.179410718C>T	VUS	4 labs	f46e16211f
10:55581883 PCDH15 G>A	10	55581883	55581883	G	A	PCDH15	c.5624C>T	NM_001142763.2	NP_001136235.1:p.(Thr1875Met)	NC_000010.10:g.55581883G>A	(Likely) benign	2 labs	f4725cd677
16:15802687 MYH11 G>T	16	15802687	15802687	G	T	MYH11	c.5819C>A	NM_001040113.2	NP_001035202.1:p.(Pro1940Gln)	NC_000016.9:g.15802687G>T	(Likely) benign	4 labs	f47295d416
1:111146149 KCNA2 C>T	1	111146149	111146149	C	T	KCNA2	c.1256G>A	NM_004974.4	NP_004965.1:p.(Arg419Gln)	NC_000001.10:g.111146149C>T	VUS	2 labs	f48a023d46
17:41244997 BRCA1 C>T	17	41244997	41244997	C	T	BRCA1	c.2551G>A	NM_007294.4	NP_009225.1:p.(Glu851Lys)	NC_000017.10:g.41244997C>T	VUS	2 labs	f492d27bb1
7:6043632 PMS2 C>CCA	7	6043632	6043636	C	CCA	PMS2	c.219_220dup	NM_000535.7	NP_000526.2:p.(Gly74ValfsTer3)	NC_000007.13:g.6043635_6043636dup	(Likely) pathogenic	3 labs	f49f410f9e
11:1782578 CTSD G>A	11	1782578	1782578	G	A	CTSD	c.189C>T	NM_001909.5	NP_001900.1:p.(Thr63=)	NC_000011.9:g.1782578G>A	(Likely) benign	2 labs	f4a23867b8
1:228285328 ARF1 G>A	1	228285328	228285328	G	A	ARF1	c.296G>A	NM_001024227.1	NP_001019398.1:p.(Arg99His)	NC_000001.10:g.228285328G>A	VUS	2 labs	f4b64679c8
1:116247825 CASQ2 G>A	1	116247825	116247825	G	A	CASQ2	c.927C>T	NM_001232.4	NP_001223.2:p.(Asp309=)	NC_000001.10:g.116247825G>A	(Likely) benign	2 labs	f4c36985df
9:111673420 ELP1 C>T	9	111673420	111673420	C	T	ELP1	c.1230G>A	NM_003640.5	NP_003631.2:p.(Pro410=)	NC_000009.11:g.111673420C>T	(Likely) benign	2 labs	f4c3fef425
6:126073140 HEY2 T>C	6	126073140	126073140	T	C	HEY2	c.163-13T>C	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126073140T>C	(Likely) benign	2 labs	f4c44b38fc
2:215645539 BARD1 G>C	2	215645539	215645539	G	C	BARD1	c.1059C>G	NM_000465.4	NP_000456.2:p.(Pro353=)	NC_000002.11:g.215645539G>C	(Likely) benign	2 labs	f4cf0d4f54
2:96963366 SNRNP200 G>A	2	96963366	96963366	G	A	SNRNP200	c.1203+9C>T	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96963366G>A	(Likely) benign	2 labs	f4d2b9feae
20:4680378 PRNP A>G	20	4680378	4680378	A	G	PRNP	c.512A>G	NM_000311.5	NP_000302.1:p.(Asn171Ser)	NC_000020.10:g.4680378A>G	(Likely) benign	2 labs	f4d2e2334b
6:7581102 DSP A>G	6	7581102	7581102	A	G	DSP	c.4679A>G	NM_004415.4	NP_004406.2:p.(Gln1560Arg)	NC_000006.11:g.7581102A>G	VUS	2 labs	f4e6cc9f83
X:84363716 SATL1 G>C	X	84363716	84363716	G	C	SATL1	c.259C>G	NM_001012980.2	NP_001012998.2:p.(Pro87Ala)	NC_000023.10:g.84363716G>C	(Likely) benign	2 labs	f502548b7a
2:179416704 TTN C>T	2	179416704	179416704	C	T	TTN	c.90923G>A	NM_001267550.2	NP_001254479.2:p.(Ser30308Asn)	NC_000002.11:g.179416704C>T	VUS	2 labs	f50859faeb
5:37226961 CPLANE1 G>A	5	37226961	37226961	G	A	CPLANE1	c.1736C>T	NM_023073.4	NP_075561.3:p.(Ala579Val)	NC_000005.9:g.37226961G>A	(Likely) benign	3 labs	f51ce9414e
7:127894592 LEP G>A	7	127894592	127894592	G	A	LEP	c.280G>A	NM_000230.3	NP_000221.1:p.(Val94Met)	NC_000007.13:g.127894592G>A	(Likely) benign	2 labs	f526461f02
16:16315601 ABCC6 TG>T	16	16315601	16315607	TG	T	ABCC6	c.123del	NM_001171.6	NP_001162.5:p.(Met42CysfsTer39)	NC_000016.9:g.16315607del	(Likely) pathogenic	2 labs	f5264e866b
9:32986041 APTX C>A	9	32986041	32986041	C	A	APTX	c.484-13G>T	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986041C>A	(Likely) benign	3 labs	f52b3a0f5e
14:77493809 IRF2BPL C>T	14	77493809	77493809	C	T	IRF2BPL	c.327G>A	NM_024496.4	NP_078772.1:p.(Gln109=)	NC_000014.8:g.77493809C>T	(Likely) benign	2 labs	f532ba79d8
11:47359308 MYBPC3 G>A	11	47359308	47359308	G	A	MYBPC3	c.2346C>T	NM_000256.3	NP_000247.2:p.(Asn782=)	NC_000011.9:g.47359308G>A	(Likely) benign	3 labs	f537562ae6
1:10435065 KIF1B A>G	1	10435065	10435065	A	G	KIF1B	c.5112A>G	NM_015074.3	NP_055889.2:p.(Ala1704=)	NC_000001.10:g.10435065A>G	(Likely) benign	2 labs	f53aec1978
9:414824 DOCK8 C>T	9	414824	414824	C	T	DOCK8	c.3573C>T	NM_203447.4	NP_982272.2:p.(Ser1191=)	NC_000009.11:g.414824C>T	(Likely) benign	2 labs	f55694e269
3:38640440 SCN5A G>A	3	38640440	38640440	G	A	SCN5A	c.1992C>T	NM_198056.3	NP_932173.1:p.(Ser664=)	NC_000003.11:g.38640440G>A	(Likely) benign	2 labs	f556adbd5a
6:118879979 PLN A>G	6	118879979	118879979	A	G	PLN	c.-97-9A>G	NM_002667.5	NP_002658.1:p.?	NC_000006.11:g.118879979A>G	(Likely) benign	2 labs	f566e1fd6f
7:45077978 CCM2 G>A	7	45077978	45077978	G	A	CCM2	c.157G>A	NM_031443.4	NP_113631.1:p.(Val53Ile)	NC_000007.13:g.45077978G>A	(Likely) benign	3 labs	f569a6bcc0
11:61724863 BEST1 T>C	11	61724863	61724863	T	C	BEST1	c.461T>C	NM_001139443.2	NP_001132915.1:p.(Met154Thr)	NC_000011.9:g.61724863T>C	VUS	2 labs	f56ddae0e3
12:50501444 GPD1 T>C	12	50501444	50501444	T	C	GPD1	c.707T>C	NM_005276.4	NP_005267.2:p.(Ile236Thr)	NC_000012.11:g.50501444T>C	VUS	2 labs	f57cef7e7c
1:47882574 FOXE3 G>C	1	47882574	47882574	G	C	FOXE3	c.587G>C	NM_012186.3	NP_036318.1:p.(Gly196Ala)	NC_000001.10:g.47882574G>C	(Likely) benign	3 labs	f57c5b4437
12:115112218 TBX3 C>T	12	115112218	115112218	C	T	TBX3	c.1522G>A	NM_016569.4	NP_057653.3:p.(Ala508Thr)	NC_000012.11:g.115112218C>T	(Likely) benign	2 labs	f5851b6444
2:47278952 TTC7A C>G	2	47278952	47278952	C	G	TTC7A	c.2085C>G	NM_020458.4	NP_065191.2:p.(Pro695=)	NC_000002.11:g.47278952C>G	(Likely) benign	3 labs	f59410c138
17:75493387 SEPTIN9 C>T	17	75493387	75493387	C	T	SEPTIN9	c.1520-10C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75493387C>T	(Likely) benign	3 labs	f5970e4209
9:139393658 NOTCH1 C>T	9	139393658	139393658	C	T	NOTCH1	c.5988G>A	NM_017617.5	NP_060087.3:p.(Thr1996=)	NC_000009.11:g.139393658C>T	(Likely) benign	3 labs	f59b0a5cef
11:66282033 BBS1 C>G	11	66282033	66282033	C	G	BBS1	c.316C>G	NM_024649.5	NP_078925.3:p.(Leu106Val)	NC_000011.9:g.66282033C>G	(Likely) benign	3 labs	f59de87886
2:179604584 TTN A>G	2	179604584	179604584	A	G	TTN	c.13376T>C	NM_001267550.2	NP_001254479.2:p.(Ile4459Thr)	NC_000002.11:g.179604584A>G	VUS	2 labs	f59f612628
22:39631768 PDGFB G>T	22	39631768	39631768	G	T	PDGFB	c.160+15C>A	NM_002608.4	NP_002599.1:p.?	NC_000022.10:g.39631768G>T	(Likely) benign	2 labs	f5ab7138f5
11:76825363 CAPN5 T>C	11	76825363	76825363	T	C	CAPN5	c.582T>C	NM_004055.5	NP_004046.2:p.(Ser194=)	NC_000011.9:g.76825363T>C	(Likely) benign	2 labs	f5b9715661
2:189898904 COL5A2 A>G	2	189898904	189898904	A	G	COL5A2	c.4392T>C	NM_000393.5	NP_000384.2:p.(Tyr1464=)	NC_000002.11:g.189898904A>G	(Likely) benign	2 labs	f5bec9c656
6:121769144 GJA1 T>TA	6	121769144	121769145	T	TA	GJA1	c.*3dup	NM_000165.5	NP_000156.1:p.?	NC_000006.11:g.121769145dup	(Likely) benign	2 labs	f5bfca0adf
6:79725402 PHIP T>C	6	79725402	79725402	T	C	PHIP	c.1334A>G	NM_017934.7	NP_060404.4:p.(Asn445Ser)	NC_000006.11:g.79725402T>C	VUS	2 labs	f5c53756d5
3:38592171 SCN5A G>A	3	38592171	38592171	G	A	SCN5A	c.5692C>T	NM_198056.3	NP_932173.1:p.(Arg1898Cys)	NC_000003.11:g.38592171G>A	VUS	2 labs	f5c690cc35
2:74597797 DCTN1 G>C	2	74597797	74597797	G	C	DCTN1	c.999C>G	NM_004082.5	NP_004073.2:p.(Asp333Glu)	NC_000002.11:g.74597797G>C	(Likely) benign	2 labs	f5c91385d5
2:179424267 TTN T>C	2	179424267	179424267	T	C	TTN	c.86592A>G	NM_001267550.2	NP_001254479.2:p.(Leu28864=)	NC_000002.11:g.179424267T>C	(Likely) benign	2 labs	f5cc493071
17:41056067 G6PC1 C>A	17	41056067	41056067	C	A	G6PC1	c.340+10C>A	NM_000151.4	NP_000142.2:p.?	NC_000017.10:g.41056067C>A	(Likely) benign	2 labs	f5d18ce7a0
11:76893134 MYO7A G>T	11	76893134	76893134	G	T	MYO7A	c.3042G>T	NM_000260.4	NP_000251.3:p.(Thr1014=)	NC_000011.9:g.76893134G>T	(Likely) benign	2 labs	f5dc728bd4
X:38535032 TSPAN7 C>A	X	38535032	38535032	C	A	TSPAN7	c.515C>A	NM_004615.4	NP_004606.2:p.(Pro172His)	NC_000023.10:g.38535032C>A	(Likely) benign	3 labs	f5e42261b4
14:23900820 MYH7 C>T	14	23900820	23900820	C	T	MYH7	c.706G>A	NM_000257.4	NP_000248.2:p.(Val236Ile)	NC_000014.8:g.23900820C>T	(Likely) pathogenic	2 labs	f5f263b6b1
2:220283298 DES G>A	2	220283298	220283298	G	A	DES	c.114G>A	NM_001927.4	NP_001918.3:p.(Ala38=)	NC_000002.11:g.220283298G>A	(Likely) benign	3 labs	f5ede9fe9a
17:10429052 MYH2 G>A	17	10429052	10429052	G	A	MYH2	c.4329C>T	NM_001100112.2	NP_001093582.1:p.(Ala1443=)	NC_000017.10:g.10429052G>A	(Likely) benign	2 labs	f5ee9b87f2
2:179395760 TTN G>A	2	179395760	179395760	G	A	TTN	c.105582C>T	NM_001267550.2	NP_001254479.2:p.(Ser35194=)	NC_000002.11:g.179395760G>A	(Likely) benign	3 labs	f5f1fe491c
7:128489453 FLNC G>A	7	128489453	128489453	G	A	FLNC	c.5020G>A	NM_001458.5	NP_001449.3:p.(Gly1674Ser)	NC_000007.13:g.128489453G>A	VUS	3 labs	f5f759a23e
2:179665145 TTN G>A	2	179665145	179665145	G	A	TTN	c.560C>T	NM_001267550.2	NP_001254479.2:p.(Ser187Leu)	NC_000002.11:g.179665145G>A	VUS	2 labs	f5fe2fb8ed
17:39913692 JUP T>C	17	39913692	39913692	T	C	JUP	c.2021A>G	NM_002230.4	NP_002221.1:p.(Lys674Arg)	NC_000017.10:g.39913692T>C	VUS	2 labs	f61ce87bcc
15:73616510 HCN4 T>C	15	73616510	73616510	T	C	HCN4	c.2063A>G	NM_005477.3	NP_005468.1:p.(Asn688Ser)	NC_000015.9:g.73616510T>C	VUS	2 labs	f6354e5857
2:179419846 TTN G>C	2	179419846	179419846	G	C	TTN	c.88340C>G	NM_001267550.2	NP_001254479.2:p.(Thr29447Arg)	NC_000002.11:g.179419846G>C	(Likely) benign	2 labs	f63946fca0
11:6413108 SMPD1 T>C	11	6413108	6413108	T	C	SMPD1	c.813T>C	NM_000543.5	NP_000534.3:p.(Pro271=)	NC_000011.9:g.6413108T>C	(Likely) benign	3 labs	f63977b747
18:29126145 DSG2 T>C	18	29126145	29126145	T	C	DSG2	c.2796T>C	NM_001943.5	NP_001934.2:p.(Asn932=)	NC_000018.9:g.29126145T>C	(Likely) benign	2 labs	f647a7b58f
2:179616481 TTN C>T	2	179616481	179616481	C	T	TTN	c.10646G>A	NM_133379.5	NP_596870.2:p.(Arg3549His)	NC_000002.11:g.179616481C>T	(Likely) benign	3 labs	f6571bd9a3
4:647908 PDE6B C>T	4	647908	647908	C	T	PDE6B	c.892C>T	NM_000283.4	NP_000274.3:p.(Gln298Ter)	NC_000004.11:g.647908C>T	(Likely) pathogenic	2 labs	f65b048e69
13:32893197 BRCA2 A>G	13	32893197	32893197	A	G	BRCA2	c.68-17A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893197A>G	(Likely) benign	4 labs	f65e522d39
19:49705259 TRPM4 G>A	19	49705259	49705259	G	A	TRPM4	c.2992G>A	NM_017636.4	NP_060106.2:p.(Gly998Ser)	NC_000019.9:g.49705259G>A	VUS	2 labs	f663040125
12:102045031 MYBPC1 A>T	12	102045031	102045031	A	T	MYBPC1	c.1386A>T	NM_002465.4	NP_002456.2:p.(Thr462=)	NC_000012.11:g.102045031A>T	(Likely) benign	2 labs	f668233dd3
6:170871046 TBP A>ACAG	6	170871046	170871105	A	ACAG	TBP	c.279_281dup	NM_003194.5	NP_003185.1:p.(Gln95dup)	NC_000006.11:g.170871103_170871105dup	(Likely) benign	2 labs	f673a7eb37
19:55665456 TNNI3 T>G	19	55665456	55665456	T	G	TNNI3	c.491A>C	NM_000363.5	NP_000354.4:p.(Lys164Thr)	NC_000019.9:g.55665456T>G	VUS	3 labs	f67b846532
9:101908915 TGFBR1 G>A	9	101908915	101908915	G	A	TGFBR1	c.1255+24G>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101908915G>A	(Likely) benign	2 labs	f680c1d9dd
5:127800432 FBN2 T>G	5	127800432	127800432	T	G	FBN2	c.811A>C	NM_001999.4	NP_001990.2:p.(Thr271Pro)	NC_000005.9:g.127800432T>G	VUS	5 labs	f68d778f5d
3:38763816 SCN10A C>T	3	38763816	38763816	C	T	SCN10A	c.3440G>A	NM_006514.4	NP_006505.4:p.(Arg1147His)	NC_000003.11:g.38763816C>T	(Likely) benign	2 labs	f690f49629
2:179583181 TTN T>C	2	179583181	179583181	T	C	TTN	c.24652A>G	NM_001267550.2	NP_001254479.2:p.(Ser8218Gly)	NC_000002.11:g.179583181T>C	(Likely) benign	3 labs	f69a0d31fa
2:179398169 TTN T>TG	2	179398169	179398175	T	TG	TTN	c.103172dup	NM_001267550.2	NP_001254479.2:p.(Pro34392ThrfsTer17)	NC_000002.11:g.179398175dup	(Likely) pathogenic	3 labs	f69da33712
7:635849 PRKAR1B G>A	7	635849	635849	G	A	PRKAR1B	c.642C>T	NM_001164761.2	NP_001158233.1:p.(Thr214=)	NC_000007.13:g.635849G>A	(Likely) benign	2 labs	f69ed2993d
2:62067126 FAM161A C>T	2	62067126	62067126	C	T	FAM161A	c.1013G>A	NM_001201543.2	NP_001188472.1:p.(Arg338Gln)	NC_000002.11:g.62067126C>T	(Likely) benign	2 labs	f6a21c182d
2:121726323 GLI2 G>A	2	121726323	121726323	G	A	GLI2	c.677G>A	NM_001371271.1	NP_001358200.1:p.(Arg226His)	NC_000002.11:g.121726323G>A	VUS	2 labs	f6a7636f65
1:78408154 NEXN AGAGGAG>A	1	78408154	78408168	AGAGGAG	A	NEXN	c.1677_1682del	NM_144573.4	NP_653174.3:p.(Glu561_Glu562del)	NC_000001.10:g.78408163_78408168del	(Likely) benign	3 labs	f6afb1ecc6
14:78043235 SPTLC2 C>G	14	78043235	78043235	C	G	SPTLC2	c.506G>C	NM_004863.4	NP_004854.1:p.(Gly169Ala)	NC_000014.8:g.78043235C>G	(Likely) benign	2 labs	f6bd636d75
10:16990490 CUBN G>A	10	16990490	16990490	G	A	CUBN	c.5196C>T	NM_001081.4	NP_001072.2:p.(Thr1732=)	NC_000010.10:g.16990490G>A	(Likely) benign	3 labs	f6c0c17a8c
9:94812335 SPTLC1 G>A	9	94812335	94812335	G	A	SPTLC1	c.795C>T	NM_001281303.2	NP_001268232.1:p.(Tyr265=)	NC_000009.11:g.94812335G>A	(Likely) benign	2 labs	f6c8e56cb4
8:62580816 ASPH G>GGTC	8	62580816	62580817	G	GGTC	ASPH	c.298_299insGAC	NM_020164.5	NP_064549.1:p.(Ala100delinsGlyPro)	NC_000008.10:g.62580816_62580817insGTC	(Likely) benign	2 labs	f6c982ae6c
1:235929555 LYST G>A	1	235929555	235929555	G	A	LYST	c.5945C>T	NM_000081.4	NP_000072.2:p.(Thr1982Ile)	NC_000001.10:g.235929555G>A	(Likely) benign	3 labs	f6cd36ed7b
3:38888500 SCN11A G>A	3	38888500	38888500	G	A	SCN11A	c.5061C>T	NM_001349253.2	NP_001336182.1:p.(Phe1687=)	NC_000003.11:g.38888500G>A	(Likely) benign	2 labs	f6ced47460
6:65301403 EYS CAGCTATA>C	6	65301403	65301413	CAGCTATA	C	EYS	c.4350_4356del	NM_001292009.1	NP_001278938.1:p.(Ile1451ProfsTer3)	NC_000006.11:g.65301407_65301413del	(Likely) pathogenic	2 labs	f6d33a65fa
5:95748103 PCSK1 G>A	5	95748103	95748103	G	A	PCSK1	c.801C>T	NM_000439.5	NP_000430.3:p.(Ser267=)	NC_000005.9:g.95748103G>A	VUS	2 labs	f6d414f06f
15:45391566 DUOX2 A>T	15	45391566	45391566	A	T	DUOX2	c.3515+15T>A	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45391566A>T	(Likely) benign	3 labs	f6dc9cc489
12:88482779 CEP290 TA>T	12	88482779	88482790	TA	T	CEP290	c.4029+29del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88482790del	(Likely) benign	2 labs	f6e3a49fb7
15:23891444 MAGEL2 A>G	15	23891444	23891444	A	G	MAGEL2	c.1446T>C	NM_019066.5	NP_061939.3:p.(Ala482=)	NC_000015.9:g.23891444A>G	(Likely) benign	2 labs	f6e65de999
1:235543476 TBCE TTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTG	T	TBCE	c.100+54_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543518_235543529del	(Likely) benign	2 labs	f6e933e973
1:243471294 SDCCAG8 C>T	1	243471294	243471294	C	T	SDCCAG8	c.840C>T	NM_001350248.2	NP_001337177.1:p.(Asn280=)	NC_000001.10:g.243471294C>T	(Likely) benign	2 labs	f6ea5d106a
3:148901404 CP A>C	3	148901404	148901404	A	C	CP	c.2286-12T>G	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901404A>C	(Likely) benign	2 labs	f6eae1f6ae
9:135218057 SETX C>T	9	135218057	135218057	C	T	SETX	c.498+20G>A	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135218057C>T	(Likely) benign	3 labs	f6f371ead4
5:90087019 ADGRV1 T>A	5	90087019	90087019	T	A	ADGRV1	c.14373T>A	NM_032119.4	NP_115495.3:p.(Ala4791=)	NC_000005.9:g.90087019T>A	(Likely) benign	2 labs	f6fa05a363
8:10470439 RP1L1 C>T	8	10470439	10470439	C	T	RP1L1	c.1169G>A	NM_178857.6	NP_849188.4:p.(Gly390Glu)	NC_000008.10:g.10470439C>T	VUS	2 labs	f6fc7ffcbd
9:107620867 ABCA1 C>T	9	107620867	107620867	C	T	ABCA1	c.656G>A	NM_005502.4	NP_005493.2:p.(Arg219Lys)	NC_000009.11:g.107620867C>T	(Likely) benign	2 labs	f71365d9b3
14:23857091 MYH6 A>C	14	23857091	23857091	A	C	MYH6	c.4401T>G	NM_002471.4	NP_002462.2:p.(Ser1467=)	NC_000014.8:g.23857091A>C	(Likely) benign	2 labs	f7146f78e6
2:241700814 KIF1A G>A	2	241700814	241700814	G	A	KIF1A	c.2117-20C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241700814G>A	(Likely) benign	2 labs	f7151e01e8
9:135202353 SETX CAA>C	9	135202353	135202356	CAA	C	SETX	c.4630_4631del	NM_015046.7	NP_055861.3:p.(Leu1544GlufsTer6)	NC_000009.11:g.135202355_135202356del	(Likely) pathogenic	2 labs	f71c5fc819
16:15813088 MYH11 G>A	16	15813088	15813088	G	A	MYH11	c.5160C>T	NM_002474.3	NP_002465.1:p.(Ser1720=)	NC_000016.9:g.15813088G>A	(Likely) benign	2 labs	f71e178bc3
16:15865524 MYH11 T>C	16	15865524	15865524	T	C	MYH11	c.935A>G	NM_002474.3	NP_002465.1:p.(Asn312Ser)	NC_000016.9:g.15865524T>C	VUS	2 labs	f721d189c9
15:40764353 CHST14 G>A	15	40764353	40764353	G	A	CHST14	c.941G>A	NM_130468.4	NP_569735.1:p.(Arg314Gln)	NC_000015.9:g.40764353G>A	(Likely) benign	2 labs	f734bfc25b
4:527658 PIGG TTA>T	4	527658	527660	TTA	T	PIGG	c.1526_1527del	NM_001345994.2	NP_001332923.1:p.(Leu509Ter)	NC_000004.11:g.527659_527660del	(Likely) pathogenic	2 labs	f737ce0c92
7:138406746 ATP6V0A4 C>A	7	138406746	138406746	C	A	ATP6V0A4	c.2035G>T	NM_020632.3	NP_065683.2:p.(Asp679Tyr)	NC_000007.13:g.138406746C>A	(Likely) benign	2 labs	f740f137a3
10:112595620 RBM20 C>G	10	112595620	112595620	C	G	RBM20	c.3574-6C>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112595620C>G	(Likely) benign	3 labs	f744c9d94a
4:126239986 FAT4 C>T	4	126239986	126239986	C	T	FAT4	c.2420C>T	NM_001291303.3	NP_001278232.1:p.(Ala807Val)	NC_000004.11:g.126239986C>T	(Likely) benign	2 labs	f746f04350
12:2613717 CACNA1C G>A	12	2613717	2613717	G	A	CACNA1C	c.1114-291G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2613717G>A	(Likely) benign	2 labs	f76dd4b8ec
1:74902171 TNNI3K A>G	1	74902171	74902171	A	G	TNNI3K	c.1839A>G	NM_015978.3	NP_057062.1:p.(Leu613=)	NC_000001.10:g.74902171A>G	(Likely) benign	2 labs	f787dc4e80
8:106431420 ZFPM2 A>G	8	106431420	106431420	A	G	ZFPM2	c.89A>G	NM_012082.4	NP_036214.2:p.(Glu30Gly)	NC_000008.10:g.106431420A>G	(Likely) benign	5 labs	f78e85bfbc
7:94040345 COL1A2 GTT>G	7	94040345	94040361	GTT	G	COL1A2	c.1252-8_1252-7del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040360_94040361del	(Likely) benign	2 labs	f790a7535a
12:1005644 WNK1 G>A	12	1005644	1005644	G	A	WNK1	c.6771G>A	NM_001184985.2	NP_001171914.1:p.(Glu2257=)	NC_000012.11:g.1005644G>A	(Likely) benign	2 labs	f7985d2fc2
7:103202257 RELN T>C	7	103202257	103202257	T	C	RELN	c.5351+3A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202257T>C	(Likely) benign	2 labs	f79e98c0c9
2:179426423 TTN C>T	2	179426423	179426423	C	T	TTN	c.84436G>A	NM_001267550.2	NP_001254479.2:p.(Val28146Ile)	NC_000002.11:g.179426423C>T	VUS	2 labs	f7a0b18913
2:179611899 TTN G>T	2	179611899	179611899	G	T	TTN	c.15228C>A	NM_133379.5	NP_596870.2:p.(Pro5076=)	NC_000002.11:g.179611899G>T	(Likely) benign	3 labs	f7a3cd228d
5:147778631 FBXO38 A>G	5	147778631	147778631	A	G	FBXO38	c.198A>G	NM_030793.5	NP_110420.3:p.(Leu66=)	NC_000005.9:g.147778631A>G	(Likely) benign	2 labs	f7a97b241b
15:44877834 SPG11 C>A	15	44877834	44877834	C	A	SPG11	c.5121G>T	NM_025137.4	NP_079413.3:p.(Glu1707Asp)	NC_000015.9:g.44877834C>A	VUS	4 labs	f7ae96d532
6:64574078 EYS C>T	6	64574078	64574078	C	T	EYS	c.7228+1G>A	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64574078C>T	(Likely) pathogenic	2 labs	f7b6d8bc00
3:193377319 OPA1 G>A	3	193377319	193377319	G	A	OPA1	c.2489G>A	NM_130837.3	NP_570850.2:p.(Trp830Ter)	NC_000003.11:g.193377319G>A	(Likely) pathogenic	2 labs	f7bdddaae1
5:149433902 CSF1R C>T	5	149433902	149433902	C	T	CSF1R	c.2746G>A	NM_005211.4	NP_005202.2:p.(Glu916Lys)	NC_000005.9:g.149433902C>T	(Likely) benign	2 labs	f7beab3bf3
9:117166344 WHRN G>A	9	117166344	117166344	G	A	WHRN	c.2247C>T	NM_001173425.2	NP_001166896.1:p.(Leu749=)	NC_000009.11:g.117166344G>A	(Likely) benign	2 labs	f7c36a6ba9
14:57268684 OTX2 G>A	14	57268684	57268684	G	A	OTX2	c.639C>T	NM_001270524.2	NP_001257453.1:p.(Pro213=)	NC_000014.8:g.57268684G>A	(Likely) benign	2 labs	f7c5269560
3:46899716 MYL3 C>G	3	46899716	46899716	C	G	MYL3	c.*13+5G>C	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899716C>G	(Likely) benign	3 labs	f7c5e63888
3:184045410 EIF4G1 T>C	3	184045410	184045410	T	C	EIF4G1	c.3701T>C	NM_182917.4	NP_886553.3:p.(Leu1234Pro)	NC_000003.11:g.184045410T>C	(Likely) benign	2 labs	f7ce38453a
10:18430123 CACNB2 T>C	10	18430123	18430123	T	C	CACNB2	c.15T>C	NM_201571.4	NP_963865.2:p.(Ser5=)	NC_000010.10:g.18430123T>C	(Likely) benign	2 labs	f7cf14bf21
X:70356208 MED12 T>C	X	70356208	70356208	T	C	MED12	c.5103T>C	NM_005120.3	NP_005111.2:p.(Ser1701=)	NC_000023.10:g.70356208T>C	(Likely) benign	2 labs	f7cfc837ab
18:19427096 MIB1 A>G	18	19427096	19427096	A	G	MIB1	c.2393+10A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19427096A>G	(Likely) benign	2 labs	f7d0e76db9
6:129813063 LAMA2 T>C	6	129813063	129813063	T	C	LAMA2	c.7916T>C	NM_000426.4	NP_000417.3:p.(Val2639Ala)	NC_000006.11:g.129813063T>C	VUS	2 labs	f7eb1879e7
13:52508989 ATP7B G>A	13	52508989	52508989	G	A	ATP7B	c.4301C>T	NM_000053.4	NP_000044.2:p.(Thr1434Met)	NC_000013.10:g.52508989G>A	(Likely) benign	5 labs	f7f685769d
1:235596323 TBCE C>T	1	235596323	235596323	C	T	TBCE	c.723C>T	NM_001287801.2	NP_001274730.1:p.(Phe241=)	NC_000001.10:g.235596323C>T	(Likely) benign	2 labs	f7ff4e35dd
X:21899039 MBTPS2 G>A	X	21899039	21899039	G	A	MBTPS2	c.1286G>A	NM_015884.4	NP_056968.1:p.(Arg429His)	NC_000023.10:g.21899039G>A	(Likely) pathogenic	2 labs	f80c144617
18:48604810 SMAD4 G>A	18	48604810	48604810	G	A	SMAD4	c.1632G>A	NM_005359.6	NP_005350.1:p.(Pro544=)	NC_000018.9:g.48604810G>A	(Likely) benign	2 labs	f814cb2e7d
17:41246228 BRCA1 TA>T	17	41246228	41246231	TA	T	BRCA1	c.1319del	NM_007294.4	NP_009225.1:p.(Leu440Ter)	NC_000017.10:g.41246231del	(Likely) pathogenic	3 labs	f8224ca3bd
22:51065451 ARSA C>T	22	51065451	51065451	C	T	ARSA	c.495G>A	NM_000487.6	NP_000478.3:p.(Pro165=)	NC_000022.10:g.51065451C>T	(Likely) benign	2 labs	f82218a182
16:68842770 CDH1 CT>C	16	68842770	68842772	CT	C	CDH1	c.687+21del	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842772del	(Likely) benign	2 labs	f82e4d3cca
17:29553473 NF1 C>T	17	29553473	29553473	C	T	NF1	c.2022C>T	NM_001042492.3	NP_001035957.1:p.(Ser674=)	NC_000017.10:g.29553473C>T	(Likely) benign	2 labs	f833b7c03f
22:34046583 LARGE1 G>A	22	34046583	34046583	G	A	LARGE1	c.178C>T	NM_004737.7	NP_004728.1:p.(Arg60Trp)	NC_000022.10:g.34046583G>A	VUS	3 labs	f83c17993b
2:98128139 ANKRD36B C>T	2	98128139	98128139	C	T	ANKRD36B	c.3182G>A	NM_025190.4	NP_079466.3:p.(Arg1061Lys)	NC_000002.11:g.98128139C>T	(Likely) benign	2 labs	f83e4ede58
11:66335548 CTSF A>G	11	66335548	66335548	A	G	CTSF	c.219T>C	NM_003793.4	NP_003784.2:p.(Gly73=)	NC_000011.9:g.66335548A>G	(Likely) benign	2 labs	f847dce6bf
15:85360806 ALPK3 C>T	15	85360806	85360806	C	T	ALPK3	c.123C>T	NM_020778.5	NP_065829.4:p.(Leu41=)	NC_000015.9:g.85360806C>T	(Likely) benign	2 labs	f8481ad4dc
8:10465965 RP1L1 TCCTTCTGCCTCTGGGGCCTCTACATCTTCTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC>T	8	10465965	10466058	TCCTTCTGCCTCTGGGGCCTCTACATCTTCTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC	T	RP1L1	c.5574_5642del	NM_178857.6	NP_849188.4:p.(Asp1859_Gly1881del)	NC_000008.10:g.10465990_10466058del	(Likely) benign	2 labs	f84f06226a
11:47364269 MYBPC3 C>T	11	47364269	47364269	C	T	MYBPC3	c.1484G>A	NM_000256.3	NP_000247.2:p.(Arg495Gln)	NC_000011.9:g.47364269C>T	(Likely) pathogenic	4 labs	f851d4f98e
16:87637893 JPH3 C>CCTG	16	87637893	87637935	C	CCTG	JPH3	c.470_472dup	NM_001271604.4	NP_001258533.1:p.(Ala157dup)	NC_000016.9:g.87637933_87637935dup	(Likely) benign	2 labs	f85a96169c
2:73675110 ALMS1 A>G	2	73675110	73675110	A	G	ALMS1	c.1456A>G	NM_015120.4	NP_055935.4:p.(Ile486Val)	NC_000002.11:g.73675110A>G	(Likely) benign	4 labs	f85b8e830d
11:64526165 PYGM G>T	11	64526165	64526165	G	T	PYGM	c.255C>A	NM_005609.4	NP_005600.1:p.(Tyr85Ter)	NC_000011.9:g.64526165G>T	(Likely) pathogenic	2 labs	f869c654ba
11:108155132 ATM G>A	11	108155132	108155132	G	A	ATM	c.3925G>A	NM_000051.4	NP_000042.3:p.(Ala1309Thr)	NC_000011.9:g.108155132G>A	(Likely) benign	6 labs	f86c3f13e5
2:179483585 TTN T>C	2	179483585	179483585	T	C	TTN	c.46697-5A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483585T>C	(Likely) benign	2 labs	f8837dd0d6
11:118352479 KMT2A C>T	11	118352479	118352479	C	T	KMT2A	c.3684C>T	NM_001197104.2	NP_001184033.1:p.(Ser1228=)	NC_000011.9:g.118352479C>T	(Likely) benign	2 labs	f8893d2f89
2:219679347 CYP27A1 G>A	2	219679347	219679347	G	A	CYP27A1	c.1343G>A	NM_000784.4	NP_000775.1:p.(Arg448His)	NC_000002.11:g.219679347G>A	VUS	2 labs	f88e6482f9
1:43212750 P3H1 C>T	1	43212750	43212750	C	T	P3H1	c.2055+193G>A	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43212750C>T	(Likely) benign	2 labs	f88ee900ca
1:218520083 TGFB2 C>T	1	218520083	218520083	C	T	TGFB2	c.40C>T	NM_001135599.4	NP_001129071.1:p.(Leu14=)	NC_000001.10:g.218520083C>T	(Likely) benign	2 labs	f8a5ee5aac
19:47249351 FKRP A>AGGCCG	19	47249351	47249373	A	AGGCCG	FKRP	c.-305+22_-305+26dup	NM_001039885.3	NP_001034974.1:p.?	NC_000019.9:g.47249369_47249373dup	(Likely) benign	2 labs	f8a641cf82
5:90072399 ADGRV1 G>T	5	90072399	90072399	G	T	ADGRV1	c.12527+6G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90072399G>T	(Likely) benign	3 labs	f8abf2a9c8
1:236911072 ACTN2 A>G	1	236911072	236911072	A	G	ACTN2	c.888A>G	NM_001278344.2	NP_001265273.1:p.(Leu296=)	NC_000001.10:g.236911072A>G	(Likely) benign	2 labs	f8ae3b9d8d
10:112544575 RBM20 A>G	10	112544575	112544575	A	G	RBM20	c.1455A>G	NM_001134363.3	NP_001127835.2:p.(Ser485=)	NC_000010.10:g.112544575A>G	VUS	3 labs	f8ae4eea5d
1:116269619 CASQ2 T>C	1	116269619	116269619	T	C	CASQ2	c.731A>G	NM_001232.4	NP_001223.2:p.(His244Arg)	NC_000001.10:g.116269619T>C	(Likely) benign	5 labs	f8bdde99de
9:139329320 INPP5E G>C	9	139329320	139329320	G	C	INPP5E	c.813-5C>G	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139329320G>C	(Likely) benign	2 labs	f8c089f810
7:81641570 CACNA2D1 GA>G	7	81641570	81641583	GA	G	CACNA2D1	c.1273-12del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641583del	(Likely) benign	2 labs	f8c593e9b2
10:97370017 ALDH18A1 C>G	10	97370017	97370017	C	G	ALDH18A1	c.2143G>C	NM_002860.4	NP_002851.2:p.(Asp715His)	NC_000010.10:g.97370017C>G	(Likely) pathogenic	2 labs	f8c7719d11
2:152553963 NEB A>T	2	152553963	152553963	A	T	NEB	c.1266T>A	NM_001271208.2	NP_001258137.2:p.(Tyr422Ter)	NC_000002.11:g.152553963A>T	(Likely) pathogenic	4 labs	f8d1a336d6
6:16327864 ATXN1 GTGC>G	6	16327864	16327908	GTGC	G	ATXN1	c.675_677del	NM_000332.3	NP_000323.2:p.(Gln225del)	NC_000006.11:g.16327906_16327908del	(Likely) benign	2 labs	f8d20f51a3
2:39234158 SOS1 A>G	2	39234158	39234158	A	G	SOS1	c.2673+14T>C	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39234158A>G	(Likely) benign	3 labs	f8da343fd9
13:36220461 NBEA G>A	13	36220461	36220461	G	A	NBEA	c.7683G>A	NM_015678.5	NP_056493.3:p.(Pro2561=)	NC_000013.10:g.36220461G>A	(Likely) benign	3 labs	f8fe80722a
8:11606312 GATA4 T>C	8	11606312	11606312	T	C	GATA4	c.617-113T>C	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11606312T>C	(Likely) benign	3 labs	f8de5c5312
9:137593098 COL5A1 C>T	9	137593098	137593098	C	T	COL5A1	c.573C>T	NM_000093.5	NP_000084.3:p.(Leu191=)	NC_000009.11:g.137593098C>T	(Likely) benign	2 labs	f8e2463347
10:135368906 SYCE1 G>C	10	135368906	135368906	G	C	SYCE1	c.867C>G	NM_001143763.2	NP_001137235.1:p.(Val289=)	NC_000010.10:g.135368906G>C	(Likely) benign	2 labs	f8e63bebd8
6:65301206 EYS T>G	6	65301206	65301206	T	G	EYS	c.4554A>C	NM_001292009.2	NP_001278938.1:p.(Thr1518=)	NC_000006.11:g.65301206T>G	(Likely) benign	2 labs	f8e9b6f8be
7:128478405 FLNC G>A	7	128478405	128478405	G	A	FLNC	c.1132G>A	NM_001458.5	NP_001449.3:p.(Val378Met)	NC_000007.13:g.128478405G>A	VUS	3 labs	f9044334ef
12:112888166 PTPN11 A>G	12	112888166	112888166	A	G	PTPN11	c.182A>G	NM_002834.5	NP_002825.3:p.(Asp61Gly)	NC_000012.11:g.112888166A>G	(Likely) pathogenic	2 labs	f9050508dc
2:110904416 NPHP1 G>A	2	110904416	110904416	G	A	NPHP1	c.1438-4C>T	NM_000272.5	NP_000263.2:p.?	NC_000002.11:g.110904416G>A	(Likely) benign	3 labs	f908be7a29
11:111958677 SDHD A>G	11	111958677	111958677	A	G	SDHD	c.149A>G	NM_003002.4	NP_002993.1:p.(His50Arg)	NC_000011.9:g.111958677A>G	(Likely) benign	3 labs	f90a2c7ee3
19:38991543 RYR1 G>A	19	38991543	38991543	G	A	RYR1	c.7527G>A	NM_000540.3	NP_000531.2:p.(Val2509=)	NC_000019.9:g.38991543G>A	(Likely) benign	2 labs	f9186d4dc4
11:68705674 IGHMBP2 C>A	11	68705674	68705674	C	A	IGHMBP2	c.2636C>A	NM_002180.3	NP_002171.2:p.(Thr879Lys)	NC_000011.9:g.68705674C>A	(Likely) benign	2 labs	f918cdb73f
X:11139820 HCCS G>A	X	11139820	11139820	G	A	HCCS	c.697G>A	NM_005333.5	NP_005324.3:p.(Glu233Lys)	NC_000023.10:g.11139820G>A	(Likely) benign	2 labs	f92a71a4a0
8:30954274 WRN G>T	8	30954274	30954274	G	T	WRN	c.1899-10G>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954274G>T	(Likely) benign	2 labs	f92c224892
1:197396762 CRB1 C>T	1	197396762	197396762	C	T	CRB1	c.2100C>T	NM_001257965.2	NP_001244894.1:p.(Arg700=)	NC_000001.10:g.197396762C>T	(Likely) benign	2 labs	f92f329410
6:112522893 LAMA4 A>C	6	112522893	112522893	A	C	LAMA4	c.423-4T>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112522893A>C	(Likely) benign	4 labs	f938bd2a51
14:23863546 MYH6 G>A	14	23863546	23863546	G	A	MYH6	c.2430-14C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863546G>A	(Likely) benign	3 labs	f94629dddc
16:2124321 TSC2 C>A	16	2124321	2124321	C	A	TSC2	c.2476C>A	NM_000548.5	NP_000539.2:p.(Leu826Met)	NC_000016.9:g.2124321C>A	(Likely) benign	3 labs	f949c3561e
1:215967783 USH2A T>C	1	215967783	215967783	T	C	USH2A	c.9959-4159A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215967783T>C	(Likely) pathogenic	2 labs	f951f55249
7:128490844 FLNC G>T	7	128490844	128490844	G	T	FLNC	c.5399-13G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490844G>T	(Likely) benign	2 labs	f9570526ff
17:41244952 BRCA1 G>A	17	41244952	41244952	G	A	BRCA1	c.2596C>T	NM_007294.4	NP_009225.1:p.(Arg866Cys)	NC_000017.10:g.41244952G>A	(Likely) benign	5 labs	f95a12b0af
2:179485273 TTN C>G	2	179485273	179485273	C	G	TTN	c.45975G>C	NM_001267550.2	NP_001254479.2:p.(Val15325=)	NC_000002.11:g.179485273C>G	(Likely) benign	2 labs	f95ac8b043
13:32944713 BRCA2 A>G	13	32944713	32944713	A	G	BRCA2	c.8487+19A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32944713A>G	(Likely) benign	6 labs	f97a04144d
5:112177817 APC T>C	5	112177817	112177817	T	C	APC	c.6526T>C	NM_000038.6	NP_000029.2:p.(Leu2176=)	NC_000005.9:g.112177817T>C	(Likely) benign	2 labs	f9917d39ea
10:121436653 BAG3 C>T	10	121436653	121436653	C	T	BAG3	c.1587C>T	NM_004281.4	NP_004272.2:p.(Ala529=)	NC_000010.10:g.121436653C>T	(Likely) benign	3 labs	f997d51695
7:117199640 CFTR TATC>T	7	117199640	117199646	TATC	T	CFTR	c.1519_1521del	NM_000492.4	NP_000483.3:p.(Ile507del)	NC_000007.13:g.117199644_117199646del	(Likely) pathogenic	4 labs	f9a44115ca
1:237659895 RYR2 A>G	1	237659895	237659895	A	G	RYR2	c.2046A>G	NM_001035.3	NP_001026.2:p.(Thr682=)	NC_000001.10:g.237659895A>G	(Likely) benign	2 labs	f9a98d99c3
17:41234451 BRCA1 G>C	17	41234451	41234451	G	C	BRCA1	c.4327C>G	NM_007294.4	NP_009225.1:p.(Arg1443Gly)	NC_000017.10:g.41234451G>C	(Likely) benign	3 labs	f9aee21a4c
1:216420480 USH2A A>G	1	216420480	216420480	A	G	USH2A	c.2256T>C	NM_206933.4	NP_996816.3:p.(His752=)	NC_000001.10:g.216420480A>G	(Likely) benign	3 labs	f9b52c5ad3
6:44273426 AARS2 G>A	6	44273426	44273426	G	A	AARS2	c.1398C>T	NM_020745.4	NP_065796.2:p.(Ser466=)	NC_000006.11:g.44273426G>A	(Likely) benign	2 labs	f9bccd14d2
22:51160140 SHANK3 C>T	22	51160140	51160140	C	T	SHANK3	c.4104C>T	NM_001372044.2	NP_001358973.1:p.(Ser1368=)	NC_000022.10:g.51160140C>T	(Likely) benign	2 labs	f9c914e4c8
14:105175608 INF2 C>T	14	105175608	105175608	C	T	INF2	c.1950-10C>T	NM_001031714.4	NP_001026884.3:p.?	NC_000014.8:g.105175608C>T	(Likely) benign	2 labs	f9c9341635
21:46925127 COL18A1 G>A	21	46925127	46925127	G	A	COL18A1	c.2948G>A	NM_001379500.1	NP_001366429.1:p.(Arg983His)	NC_000021.8:g.46925127G>A	VUS	3 labs	f9cc7d96a9
18:28739495 DSC1 C>CAAA	18	28739495	28739508	C	CAAA	DSC1	c.64-6_64-4dup	NM_004948.3	NP_004939.1:p.?	NC_000018.9:g.28739506_28739508dup	(Likely) benign	2 labs	f9d70e50bd
4:114294536 ANK2 C>T	4	114294536	114294536	C	T	ANK2	c.11790C>T	NM_001148.6	NP_001139.3:p.(Ile3930=)	NC_000004.11:g.114294536C>T	(Likely) benign	2 labs	f9dd9d5603
7:65557564 ASL C>T	7	65557564	65557564	C	T	ASL	c.1164C>T	NM_001024943.2	NP_001020114.1:p.(His388=)	NC_000007.13:g.65557564C>T	(Likely) benign	2 labs	f9dde2776e
16:81129851 GCSH G>A	16	81129851	81129851	G	A	GCSH	c.33C>T	NM_004483.5	NP_004474.2:p.(Ala11=)	NC_000016.9:g.81129851G>A	(Likely) benign	2 labs	f9e0c03480
2:179474483 TTN G>A	2	179474483	179474483	G	A	TTN	c.51667C>T	NM_001267550.2	NP_001254479.2:p.(Arg17223Ter)	NC_000002.11:g.179474483G>A	(Likely) pathogenic	2 labs	f9ecfe3f23
8:10480268 RP1L1 A>C	8	10480268	10480268	A	C	RP1L1	c.444T>G	NM_178857.6	NP_849188.4:p.(Leu148=)	NC_000008.10:g.10480268A>C	(Likely) benign	3 labs	f9f416ff07
18:19423086 MIB1 G>A	18	19423086	19423086	G	A	MIB1	c.1963-6G>A	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19423086G>A	(Likely) benign	4 labs	f9f516354d
8:61654648 CHD7 C>T	8	61654648	61654648	C	T	CHD7	c.657C>T	NM_017780.4	NP_060250.2:p.(Gly219=)	NC_000008.10:g.61654648C>T	(Likely) benign	4 labs	f9f59c58a3
1:20960385 PINK1 A>T	1	20960385	20960385	A	T	PINK1	c.344A>T	NM_032409.3	NP_115785.1:p.(Gln115Leu)	NC_000001.10:g.20960385A>T	(Likely) benign	2 labs	f9fe1cbd01
17:41244790 BRCA1 C>T	17	41244790	41244790	C	T	BRCA1	c.2758G>A	NM_007294.4	NP_009225.1:p.(Val920Ile)	NC_000017.10:g.41244790C>T	(Likely) benign	3 labs	fa2561f584
2:217315788 SMARCAL1 G>GT	2	217315788	217315789	G	GT	SMARCAL1	c.2070+2dup	NM_014140.4	NP_054859.2:p.?	NC_000002.11:g.217315789dup	(Likely) pathogenic	3 labs	fa2eae4082
13:32893211 BRCA2 T>G	13	32893211	32893211	T	G	BRCA2	c.68-3T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893211T>G	(Likely) benign	2 labs	fa338e3044
2:179558320 TTN A>G	2	179558320	179558320	A	G	TTN	c.31594+16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179558320A>G	(Likely) benign	2 labs	fa314684bb
11:47354790 MYBPC3 C>T	11	47354790	47354790	C	T	MYBPC3	c.3285G>A	NM_000256.3	NP_000247.2:p.(Thr1095=)	NC_000011.9:g.47354790C>T	(Likely) benign	2 labs	fa3c692d2b
2:31754383 SRD5A2 T>C	2	31754383	31754383	T	C	SRD5A2	c.692A>G	NM_000348.4	NP_000339.2:p.(His231Arg)	NC_000002.11:g.31754383T>C	(Likely) pathogenic	2 labs	fa40841013
4:126397321 FAT4 C>T	4	126397321	126397321	C	T	FAT4	c.12214-5C>T	NM_001291303.3	NP_001278232.1:p.?	NC_000004.11:g.126397321C>T	(Likely) benign	3 labs	fa43bb672c
X:10096036 WWC3 T>C	X	10096036	10096036	T	C	WWC3	c.2115T>C	NM_015691.4	NP_056506.2:p.(Ala705=)	NC_000023.10:g.10096036T>C	(Likely) benign	2 labs	fa54a9d5d3
17:4806353 CHRNE T>C	17	4806353	4806353	T	C	CHRNE	c.6A>G	NM_000080.4	NP_000071.1:p.(Ala2=)	NC_000017.10:g.4806353T>C	(Likely) benign	2 labs	fa55f56652
11:76914142 MYO7A T>TC	11	76914142	76914144	T	TC	MYO7A	c.5208dup	NM_000260.4	NP_000251.3:p.(Lys1737GlnfsTer28)	NC_000011.9:g.76914144dup	(Likely) pathogenic	3 labs	fa56b9f51c
X:77369596 PGK1 T>C	X	77369596	77369596	T	C	PGK1	c.356T>C	NM_000291.4	NP_000282.1:p.(Leu119Pro)	NC_000023.10:g.77369596T>C	(Likely) benign	2 labs	fa5ded9fa6
10:75864819 VCL C>T	10	75864819	75864819	C	T	VCL	c.2142C>T	NM_014000.3	NP_054706.1:p.(Asp714=)	NC_000010.10:g.75864819C>T	(Likely) benign	2 labs	fa65910adb
18:29125996 DSG2 T>C	18	29125996	29125996	T	C	DSG2	c.2647T>C	NM_001943.5	NP_001934.2:p.(Ser883Pro)	NC_000018.9:g.29125996T>C	(Likely) benign	4 labs	fa6c6702c3
22:29107962 CHEK2 A>G	22	29107962	29107962	A	G	CHEK2	c.727T>C	NM_007194.4	NP_009125.1:p.(Cys243Arg)	NC_000022.10:g.29107962A>G	VUS	2 labs	fa6c6fbf94
1:94512574 ABCA4 G>C	1	94512574	94512574	G	C	ABCA4	c.2819C>G	NM_000350.3	NP_000341.2:p.(Pro940Arg)	NC_000001.10:g.94512574G>C	VUS	2 labs	fa6ca78d0b
10:75830766 VCL T>C	10	75830766	75830766	T	C	VCL	c.424T>C	NM_014000.3	NP_054706.1:p.(Leu142=)	NC_000010.10:g.75830766T>C	(Likely) benign	2 labs	fa74a8e2ee
12:110246282 TRPV4 G>A	12	110246282	110246282	G	A	TRPV4	c.387-9C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110246282G>A	(Likely) benign	2 labs	fa7668fb09
15:23889200 MAGEL2 C>G	15	23889200	23889200	C	G	MAGEL2	c.3690G>C	NM_019066.5	NP_061939.3:p.(Glu1230Asp)	NC_000015.9:g.23889200C>G	(Likely) benign	2 labs	fa7edf80b2
17:59853819 BRIP1 C>CAA	17	59853819	59853823	C	CAA	BRIP1	c.2038_2039dup	NM_032043.3	NP_114432.2:p.(Leu680PhefsTer9)	NC_000017.10:g.59853822_59853823dup	(Likely) pathogenic	4 labs	fa80e9391e
9:139410437 NOTCH1 C>T	9	139410437	139410437	C	T	NOTCH1	c.1665G>A	NM_017617.5	NP_060087.3:p.(Thr555=)	NC_000009.11:g.139410437C>T	(Likely) benign	3 labs	fa81733cea
3:38592356 SCN5A A>G	3	38592356	38592356	A	G	SCN5A	c.5507T>C	NM_198056.3	NP_932173.1:p.(Ile1836Thr)	NC_000003.11:g.38592356A>G	(Likely) benign	2 labs	fa9f4827ef
5:127599260 FBN2 C>T	5	127599260	127599260	C	T	FBN2	c.8049G>A	NM_001999.4	NP_001990.2:p.(Gly2683=)	NC_000005.9:g.127599260C>T	(Likely) benign	2 labs	fa9f9f3a54
1:201338978 TNNT2 G>A	1	201338978	201338978	G	A	TNNT2	c.68-1623C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201338978G>A	(Likely) benign	2 labs	fac7a5b387
2:179577151 TTN C>T	2	179577151	179577151	C	T	TTN	c.27498G>A	NM_001267550.2	NP_001254479.2:p.(Ser9166=)	NC_000002.11:g.179577151C>T	(Likely) benign	4 labs	faad3e902e
1:3313108 PRDM16 C>T	1	3313108	3313108	C	T	PRDM16	c.627C>T	NM_022114.4	NP_071397.3:p.(His209=)	NC_000001.10:g.3313108C>T	(Likely) benign	3 labs	fab0a67d5f
18:28672246 DSC2 A>C	18	28672246	28672246	A	C	DSC2	c.172T>G	NM_004949.5	NP_004940.1:p.(Phe58Val)	NC_000018.9:g.28672246A>C	(Likely) benign	2 labs	fab0ff74aa
15:73617740 HCN4 C>T	15	73617740	73617740	C	T	HCN4	c.1636G>A	NM_005477.3	NP_005468.1:p.(Asp546Asn)	NC_000015.9:g.73617740C>T	VUS	2 labs	fab7349e4a
X:153296472 MECP2 GC>G	X	153296472	153296476	GC	G	MECP2	c.806del	NM_004992.3	NP_004983.1:p.(Gly269AlafsTer20)	NC_000023.10:g.153296476del	(Likely) pathogenic	3 labs	fabff28ca6
10:68040364 CTNNA3 A>G	10	68040364	68040364	A	G	CTNNA3	c.1748T>C	NM_013266.4	NP_037398.2:p.(Val583Ala)	NC_000010.10:g.68040364A>G	VUS	2 labs	fac0568035
16:68835754 CDH1 G>A	16	68835754	68835754	G	A	CDH1	c.345G>A	NM_004360.5	NP_004351.1:p.(Thr115=)	NC_000016.9:g.68835754G>A	(Likely) benign	4 labs	fac19e849f
9:116153891 ALAD C>G	9	116153891	116153891	C	G	ALAD	c.177G>C	NM_000031.6	NP_000022.3:p.(Lys59Asn)	NC_000009.11:g.116153891C>G	(Likely) benign	2 labs	fac551bde4
4:16165070 TAPT1 T>C	4	16165070	16165070	T	C	TAPT1	c.1565A>G	NM_153365.3	NP_699196.2:p.(Asn522Ser)	NC_000004.11:g.16165070T>C	(Likely) benign	2 labs	facc118151
3:38941466 SCN11A A>T	3	38941466	38941466	A	T	SCN11A	c.1941T>A	NM_014139.3	NP_054858.2:p.(Ile647=)	NC_000003.11:g.38941466A>T	(Likely) benign	2 labs	fad341d20c
22:24109722 CHCHD10 G>A	22	24109722	24109722	G	A	CHCHD10	c.100C>T	NM_001301339.2	NP_001288268.1:p.(Pro34Ser)	NC_000022.10:g.24109722G>A	(Likely) benign	3 labs	fad3fb91c5
17:38230800 THRA G>A	17	38230800	38230800	G	A	THRA	c.53+6G>A	NM_003250.6	NP_003241.2:p.?	NC_000017.10:g.38230800G>A	(Likely) benign	2 labs	fad7e5474c
22:50886032 SBF1 G>A	22	50886032	50886032	G	A	SBF1	c.5370C>T	NM_002972.4	NP_002963.2:p.(Tyr1790=)	NC_000022.10:g.50886032G>A	(Likely) benign	3 labs	fae4ae2f35
13:32910865 BRCA2 A>G	13	32910865	32910865	A	G	BRCA2	c.2373A>G	NM_000059.4	NP_000050.3:p.(Ser791=)	NC_000013.10:g.32910865A>G	(Likely) benign	2 labs	fae4d0c036
9:79955413 VPS13A A>G	9	79955413	79955413	A	G	VPS13A	c.6973A>G	NM_033305.3	NP_150648.2:p.(Ile2325Val)	NC_000009.11:g.79955413A>G	(Likely) benign	2 labs	fae9323689
1:161276653 MPZ C>T	1	161276653	161276653	C	T	MPZ	c.293G>A	NM_000530.8	NP_000521.2:p.(Arg98His)	NC_000001.10:g.161276653C>T	(Likely) pathogenic	2 labs	fae9d36385
20:57484198 GNAS GTCTT>G	20	57484198	57484207	GTCTT	G	GNAS	c.*392-13_*392-10del	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57484204_57484207del	(Likely) benign	2 labs	faf1e6712c
X:119580289 LAMP2 GAGA>G	X	119580289	119580299	GAGA	G	LAMP2	c.742-10_742-8del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119580297_119580299del	(Likely) benign	2 labs	faf7806f9a
17:41219619 BRCA1 G>C	17	41219619	41219619	G	C	BRCA1	c.5074+6C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219619G>C	(Likely) benign	5 labs	faf90d603b
11:47364815 MYBPC3 T>C	11	47364815	47364815	T	C	MYBPC3	c.1224-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364815T>C	(Likely) pathogenic	3 labs	fafc7fa5d7
X:153762634 G6PD G>A	X	153762634	153762634	G	A	G6PD	c.653C>T	NM_000402.4	NP_000393.4:p.(Ser218Phe)	NC_000023.10:g.153762634G>A	(Likely) pathogenic	6 labs	fafe5f8f8c
3:132166266 DNAJC13 T>G	3	132166266	132166266	T	G	DNAJC13	c.246T>G	NM_015268.4	NP_056083.3:p.(Thr82=)	NC_000003.11:g.132166266T>G	(Likely) benign	2 labs	faff996e9c
6:126075709 HEY2 A>AT	6	126075709	126075724	A	AT	HEY2	c.328+32dup	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075724dup	(Likely) benign	2 labs	fb08b3cd60
3:123458840 MYLK C>T	3	123458840	123458840	C	T	MYLK	c.382G>A	NM_053025.4	NP_444253.3:p.(Ala128Thr)	NC_000003.11:g.123458840C>T	(Likely) benign	2 labs	fb08baeb90
11:2799219 KCNQ1 T>C	11	2799219	2799219	T	C	KCNQ1	c.1746T>C	NM_000218.3	NP_000209.2:p.(Asp582=)	NC_000011.9:g.2799219T>C	(Likely) benign	2 labs	fb15078731
19:35530118 SCN1B C>T	19	35530118	35530118	C	T	SCN1B	c.447C>T	NM_001321605.2	NP_001308534.1:p.(Tyr149=)	NC_000019.9:g.35530118C>T	(Likely) benign	3 labs	fb1d750ad2
11:61724418 BEST1 C>T	11	61724418	61724418	C	T	BEST1	c.404C>T	NM_001139443.2	NP_001132915.1:p.(Ala135Val)	NC_000011.9:g.61724418C>T	(Likely) pathogenic	2 labs	fb1f79064e
2:71743376 DYSF T>C	2	71743376	71743376	T	C	DYSF	c.948+4T>C	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71743376T>C	(Likely) benign	2 labs	fb21919e73
2:241685270 KIF1A G>A	2	241685270	241685270	G	A	KIF1A	c.3259C>T	NM_001244008.2	NP_001230937.1:p.(Pro1087Ser)	NC_000002.11:g.241685270G>A	(Likely) benign	4 labs	fb3b6d861d
3:11070426 SLC6A1 G>A	3	11070426	11070426	G	A	SLC6A1	c.1084G>A	NM_003042.4	NP_003033.3:p.(Gly362Arg)	NC_000003.11:g.11070426G>A	(Likely) pathogenic	2 labs	fb43ca77df
2:179501483 TTN T>C	2	179501483	179501483	T	C	TTN	c.40971A>G	NM_001267550.2	NP_001254479.2:p.(Arg13657=)	NC_000002.11:g.179501483T>C	(Likely) benign	2 labs	fb4818ad49
10:90762858 FAS T>C	10	90762858	90762858	T	C	FAS	c.103T>C	NM_000043.6	NP_000034.1:p.(Leu35=)	NC_000010.10:g.90762858T>C	(Likely) benign	2 labs	fb49ab460d
2:15415892 NBAS A>G	2	15415892	15415892	A	G	NBAS	c.5440T>C	NM_015909.4	NP_056993.2:p.(Leu1814=)	NC_000002.11:g.15415892A>G	(Likely) benign	3 labs	fb4b7bd127
16:88502583 ZNF469 C>T	16	88502583	88502583	C	T	ZNF469	c.8705C>T	NM_001367624.2	NP_001354553.1:p.(Thr2902Met)	NC_000016.9:g.88502583C>T	(Likely) benign	3 labs	fb4bc9be9a
16:15832561 MYH11 GAA>G	16	15832561	15832564	GAA	G	MYH11	c.3019-18_3019-17del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15832563_15832564del	(Likely) benign	2 labs	fb52aeb377
15:83332640 AP3B2 G>A	15	83332640	83332640	G	A	AP3B2	c.2349C>T	NM_001278512.2	NP_001265441.1:p.(Ser783=)	NC_000015.9:g.83332640G>A	(Likely) benign	3 labs	fb54d67bfe
22:21350342 LZTR1 C>T	22	21350342	21350342	C	T	LZTR1	c.2160C>T	NM_006767.4	NP_006758.2:p.(Phe720=)	NC_000022.10:g.21350342C>T	(Likely) benign	2 labs	fb56a8d0ef
1:12023631 PLOD1 C>T	1	12023631	12023631	C	T	PLOD1	c.1140C>T	NM_000302.4	NP_000293.2:p.(Ser380=)	NC_000001.10:g.12023631C>T	(Likely) benign	2 labs	fb5bb6ca22
16:90001561 TUBB3 C>T	16	90001561	90001561	C	T	TUBB3	c.486C>T	NM_001197181.2	NP_001184110.1:p.(Ser162=)	NC_000016.9:g.90001561C>T	(Likely) benign	2 labs	fb5c7d1f13
6:64776241 EYS TA>T	6	64776241	64776242	TA	T	EYS	c.6714del	NM_001292009.2	NP_001278938.1:p.(Ile2239SerfsTer17)	NC_000006.11:g.64776242del	(Likely) pathogenic	2 labs	fb6240eea0
15:80762757 ARNT2 C>T	15	80762757	80762757	C	T	ARNT2	c.393C>T	NM_014862.4	NP_055677.3:p.(Ser131=)	NC_000015.9:g.80762757C>T	(Likely) benign	2 labs	fb6f75ef1d
16:2134328 TSC2 C>T	16	2134328	2134328	C	T	TSC2	c.4105C>T	NM_000548.5	NP_000539.2:p.(Arg1369Trp)	NC_000016.9:g.2134328C>T	(Likely) benign	2 labs	fb727ab074
7:150644680 KCNH2 G>A	7	150644680	150644680	G	A	KCNH2	c.2965+14C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150644680G>A	(Likely) benign	2 labs	fb88863345
10:69299321 CTNNA3 C>T	10	69299321	69299321	C	T	CTNNA3	c.399G>A	NM_013266.4	NP_037398.2:p.(Thr133=)	NC_000010.10:g.69299321C>T	(Likely) benign	3 labs	fb8cfa1aff
3:193409848 OPA1 A>G	3	193409848	193409848	A	G	OPA1	c.2984-4A>G	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193409848A>G	(Likely) benign	3 labs	fb97babb3e
3:123451969 MYLK A>G	3	123451969	123451969	A	G	MYLK	c.1310-20T>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123451969A>G	(Likely) benign	3 labs	fb987868a8
4:15992851 PROM1 G>A	4	15992851	15992851	G	A	PROM1	c.1977C>T	NM_006017.3	NP_006008.1:p.(Asn659=)	NC_000004.11:g.15992851G>A	(Likely) benign	2 labs	fba2dd7ed3
1:12010469 PLOD1 G>T	1	12010469	12010469	G	T	PLOD1	c.358G>T	NM_000302.4	NP_000293.2:p.(Ala120Ser)	NC_000001.10:g.12010469G>T	(Likely) benign	3 labs	fba5cfe028
11:31824197 PAX6 C>T	11	31824197	31824197	C	T	PAX6	c.196G>A	NM_001368918.2	NP_001355847.1:p.(Ala66Thr)	NC_000011.9:g.31824197C>T	(Likely) benign	2 labs	fba6a9b1ac
7:12271530 TMEM106B G>A	7	12271530	12271530	G	A	TMEM106B	c.754G>A	NM_018374.4	NP_060844.2:p.(Asp252Asn)	NC_000007.13:g.12271530G>A	(Likely) pathogenic	2 labs	fba89c43f7
19:15276919 NOTCH3 G>A	19	15276919	15276919	G	A	NOTCH3	c.5363-17C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15276919G>A	(Likely) benign	3 labs	fbb2640182
6:7577260 DSP C>T	6	7577260	7577260	C	T	DSP	c.2862C>T	NM_004415.4	NP_004406.2:p.(Cys954=)	NC_000006.11:g.7577260C>T	(Likely) benign	5 labs	fbb46c5a83
3:38622868 SCN5A G>A	3	38622868	38622868	G	A	SCN5A	c.2788-6C>T	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38622868G>A	(Likely) benign	5 labs	fbb6687ece
2:227892720 COL4A4 C>T	2	227892720	227892720	C	T	COL4A4	c.3979G>A	NM_000092.5	NP_000083.3:p.(Val1327Met)	NC_000002.11:g.227892720C>T	(Likely) benign	3 labs	fbb7150005
2:179540435 TTN A>AG	2	179540435	179540437	A	AG	TTN	c.34499dup	NM_001267550.2	NP_001254479.2:p.(Pro11501SerfsTer4)	NC_000002.11:g.179540437dup	VUS	3 labs	fbc1500aff
16:23637563 PALB2 G>A	16	23637563	23637563	G	A	PALB2	c.2742C>T	NM_024675.4	NP_078951.2:p.(Phe914=)	NC_000016.9:g.23637563G>A	(Likely) benign	4 labs	fbc40838e2
16:89805914 FANCA T>C	16	89805914	89805914	T	C	FANCA	c.3982A>G	NM_000135.4	NP_000126.2:p.(Thr1328Ala)	NC_000016.9:g.89805914T>C	(Likely) benign	2 labs	fbdcc22cdf
5:73197089 ARHGEF28 G>A	5	73197089	73197089	G	A	ARHGEF28	c.4054G>A	NM_001080479.3	NP_001073948.2:p.(Val1352Ile)	NC_000005.9:g.73197089G>A	(Likely) benign	2 labs	fbe3e8b781
14:64625344 SYNE2 T>C	14	64625344	64625344	T	C	SYNE2	c.15794T>C	NM_182914.3	NP_878918.2:p.(Val5265Ala)	NC_000014.8:g.64625344T>C	(Likely) benign	3 labs	fbe936c01f
1:22190708 HSPG2 TA>T	1	22190708	22190709	TA	T	HSPG2	c.4630-3del	NM_001291860.2	NP_001278789.1:p.?	NC_000001.10:g.22190709del	(Likely) benign	3 labs	fbeeeafa0f
2:179611635 TTN G>A	2	179611635	179611635	G	A	TTN	c.15492C>T	NM_133379.5	NP_596870.2:p.(Ser5164=)	NC_000002.11:g.179611635G>A	(Likely) benign	2 labs	fbfb590ad4
16:3569909 CLUAP1 G>T	16	3569909	3569909	G	T	CLUAP1	c.586G>T	NM_015041.3	NP_055856.1:p.(Val196Phe)	NC_000016.9:g.3569909G>T	(Likely) benign	2 labs	fc008f6bd2
2:179633590 TTN T>C	2	179633590	179633590	T	C	TTN	c.8973A>G	NM_001267550.2	NP_001254479.2:p.(Thr2991=)	NC_000002.11:g.179633590T>C	(Likely) benign	4 labs	fc01d0eb00
2:64144020 VPS54 A>T	2	64144020	64144020	A	T	VPS54	c.2228+14T>A	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64144020A>T	(Likely) benign	2 labs	fc02840091
2:74596527 DCTN1 C>T	2	74596527	74596527	C	T	DCTN1	c.1484G>A	NM_004082.5	NP_004073.2:p.(Arg495Gln)	NC_000002.11:g.74596527C>T	(Likely) benign	2 labs	fc059bb595
14:23874590 MYH6 T>C	14	23874590	23874590	T	C	MYH6	c.346-2A>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23874590T>C	VUS	2 labs	fc0c1ec893
5:89940547 ADGRV1 G>A	5	89940547	89940547	G	A	ADGRV1	c.2759G>A	NM_032119.4	NP_115495.3:p.(Arg920Gln)	NC_000005.9:g.89940547G>A	(Likely) benign	2 labs	fc1720f19a
2:98986401 CNGA3 G>C	2	98986401	98986401	G	C	CNGA3	c.-37-1G>C	NM_001298.3	NP_001289.1:p.?	NC_000002.11:g.98986401G>C	(Likely) pathogenic	2 labs	fc1915e679
2:21257692 APOB A>G	2	21257692	21257692	A	G	APOB	c.900T>C	NM_000384.3	NP_000375.3:p.(Gly300=)	NC_000002.11:g.21257692A>G	(Likely) benign	2 labs	fc1be613aa
1:201330440 TNNT2 G>A	1	201330440	201330440	G	A	TNNT2	c.747C>T	NM_001276347.2	NP_001263276.1:p.(Asp249=)	NC_000001.10:g.201330440G>A	(Likely) benign	2 labs	fc1e7a74e8
17:59924512 BRIP1 C>T	17	59924512	59924512	C	T	BRIP1	c.577G>A	NM_032043.3	NP_114432.2:p.(Val193Ile)	NC_000017.10:g.59924512C>T	(Likely) benign	6 labs	fc2a686233
7:128494727 FLNC G>A	7	128494727	128494727	G	A	FLNC	c.6988G>A	NM_001458.5	NP_001449.3:p.(Gly2330Ser)	NC_000007.13:g.128494727G>A	(Likely) benign	4 labs	fc3507d980
3:30732935 TGFBR2 G>A	3	30732935	30732935	G	A	TGFBR2	c.1548G>A	NM_003242.6	NP_003233.4:p.(Thr516=)	NC_000003.11:g.30732935G>A	(Likely) benign	2 labs	fc3cfce144
19:7527105 ARHGEF18 G>A	19	7527105	7527105	G	A	ARHGEF18	c.1794G>A	NM_001130955.2	NP_001124427.2:p.(Glu598=)	NC_000019.9:g.7527105G>A	(Likely) benign	2 labs	fc46eec1df
1:120263920 PHGDH CAAGG>C	1	120263920	120263928	CAAGG	C	PHGDH	c.271_274del	NM_006623.4	NP_006614.2:p.(Lys91AlafsTer5)	NC_000001.10:g.120263925_120263928del	(Likely) pathogenic	2 labs	fc475f0e8e
2:189904234 COL5A2 G>C	2	189904234	189904234	G	C	COL5A2	c.3689C>G	NM_000393.5	NP_000384.2:p.(Thr1230Arg)	NC_000002.11:g.189904234G>C	(Likely) benign	2 labs	fc4b6ca4df
20:32031206 SNTA1 G>A	20	32031206	32031206	G	A	SNTA1	c.221C>T	NM_003098.3	NP_003089.1:p.(Pro74Leu)	NC_000020.10:g.32031206G>A	(Likely) benign	3 labs	fc4e7ada88
6:7585229 DSP C>T	6	7585229	7585229	C	T	DSP	c.7734C>T	NM_004415.4	NP_004406.2:p.(Ser2578=)	NC_000006.11:g.7585229C>T	(Likely) benign	3 labs	fc53586a47
2:202625615 ALS2 C>T	2	202625615	202625615	C	T	ALS2	c.1102G>A	NM_020919.4	NP_065970.2:p.(Val368Met)	NC_000002.11:g.202625615C>T	(Likely) benign	5 labs	fc552be57b
14:88459826 GALC A>G	14	88459826	88459826	A	G	GALC	c.18T>C	NM_001201402.2	NP_001188331.1:p.(His6=)	NC_000014.8:g.88459826A>G	(Likely) benign	4 labs	fc6291febe
10:53921673 PRKG1 G>A	10	53921673	53921673	G	A	PRKG1	c.981G>A	NM_001098512.3	NP_001091982.1:p.(Gly327=)	NC_000010.10:g.53921673G>A	(Likely) benign	2 labs	fc69b45b5e
X:153642450 TAFAZZIN T>C	X	153642450	153642450	T	C	TAFAZZIN	c.383T>C	NM_000116.5	NP_000107.1:p.(Phe128Ser)	NC_000023.10:g.153642450T>C	(Likely) benign	4 labs	fc6c4c52c2
4:57897508 IGFBP7 T>TA	4	57897508	57897521	T	TA	IGFBP7	c.830-7dup	NM_001553.3	NP_001544.1:p.?	NC_000004.11:g.57897521dup	(Likely) benign	2 labs	fc785169f2
16:57938782 CNGB1 GGA>G	16	57938782	57938791	GGA	G	CNGB1	c.2493-5_2493-4del	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57938790_57938791del	(Likely) benign	2 labs	fc8444d9b8
6:3225993 TUBB2B G>A	6	3225993	3225993	G	A	TUBB2B	c.330C>T	NM_178012.5	NP_821080.1:p.(Ala110=)	NC_000006.11:g.3225993G>A	(Likely) benign	2 labs	fc8bd1d5ea
2:189923630 COL5A2 AT>A	2	189923630	189923642	AT	A	COL5A2	c.2086-12del	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189923642del	(Likely) benign	2 labs	fc8cfa3ec7
13:20763234 GJB2 T>C	13	20763234	20763234	T	C	GJB2	c.487A>G	NM_004004.6	NP_003995.2:p.(Met163Val)	NC_000013.10:g.20763234T>C	VUS	2 labs	fc913da42d
11:44146513 EXT2 C>T	11	44146513	44146513	C	T	EXT2	c.1017C>T	NM_000401.3	NP_000392.3:p.(Phe339=)	NC_000011.9:g.44146513C>T	(Likely) benign	2 labs	fc9d1f971e
6:44270870 AARS2 C>T	6	44270870	44270870	C	T	AARS2	c.2188G>A	NM_020745.4	NP_065796.2:p.(Val730Met)	NC_000006.11:g.44270870C>T	(Likely) benign	2 labs	fc9e4dace8
19:10283748 DNMT1 G>T	19	10283748	10283748	G	T	DNMT1	c.768+18C>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10283748G>T	(Likely) benign	2 labs	fca6fc73b8
17:75398380 SEPTIN9 C>T	17	75398380	75398380	C	T	SEPTIN9	c.262C>T	NM_006640.5	NP_006631.2:p.(Arg88Trp)	NC_000017.10:g.75398380C>T	(Likely) pathogenic	2 labs	fca769c887
12:8800767 MFAP5 G>A	12	8800767	8800767	G	A	MFAP5	c.442C>T	NM_003480.4	NP_003471.1:p.(Pro148Ser)	NC_000012.11:g.8800767G>A	(Likely) benign	2 labs	fcb700e287
6:116951680 RSPH4A C>A	6	116951680	116951680	C	A	RSPH4A	c.1881C>A	NM_001010892.3	NP_001010892.1:p.(Asn627Lys)	NC_000006.11:g.116951680C>A	VUS	2 labs	fcb7613cef
19:12760718 MAN2B1 A>AC	19	12760718	12760724	A	AC	MAN2B1	c.2267+8dup	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12760724dup	(Likely) benign	2 labs	fcbb58f7ca
10:69299372 CTNNA3 T>G	10	69299372	69299372	T	G	CTNNA3	c.348A>C	NM_013266.4	NP_037398.2:p.(Pro116=)	NC_000010.10:g.69299372T>G	(Likely) benign	4 labs	fcd25afb11
14:68193773 RDH12 C>T	14	68193773	68193773	C	T	RDH12	c.524C>T	NM_152443.3	NP_689656.2:p.(Ser175Leu)	NC_000014.8:g.68193773C>T	(Likely) pathogenic	3 labs	fcdb083592
2:48033890 MSH6 C>CT	2	48033890	48033908	C	CT	MSH6	c.4002-10dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033908dup	(Likely) benign	4 labs	fcdf159aac
2:175612933 CHRNA1 G>A	2	175612933	175612933	G	A	CHRNA1	c.1368C>T	NM_001039523.3	NP_001034612.1:p.(Leu456=)	NC_000002.11:g.175612933G>A	(Likely) benign	2 labs	fcf4b6c3a6
1:220369745 RAB3GAP2 TA>T	1	220369745	220369757	TA	T	RAB3GAP2	c.812-6del	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220369757del	(Likely) benign	2 labs	fcf7f5f2d9
13:110862494 COL4A1 G>A	13	110862494	110862494	G	A	COL4A1	c.534C>T	NM_001845.6	NP_001836.3:p.(Pro178=)	NC_000013.10:g.110862494G>A	(Likely) benign	2 labs	fcf9e29797
11:47364571 MYBPC3 C>T	11	47364571	47364571	C	T	MYBPC3	c.1351+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364571C>T	(Likely) pathogenic	2 labs	fd0507c535
1:235967979 LYST A>G	1	235967979	235967979	A	G	LYST	c.3394-14T>C	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235967979A>G	(Likely) benign	2 labs	fd090942ca
5:180047976 FLT4 C>T	5	180047976	180047976	C	T	FLT4	c.2199G>A	NM_182925.5	NP_891555.2:p.(Leu733=)	NC_000005.9:g.180047976C>T	(Likely) benign	2 labs	fd1111c5cf
9:139409726 NOTCH1 G>A	9	139409726	139409726	G	A	NOTCH1	c.2014+16C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139409726G>A	(Likely) benign	2 labs	fd21897ba2
22:50886736 SBF1 G>A	22	50886736	50886736	G	A	SBF1	c.5289C>T	NM_002972.4	NP_002963.2:p.(Ser1763=)	NC_000022.10:g.50886736G>A	(Likely) benign	2 labs	fd2495eab5
2:215645450 BARD1 A>T	2	215645450	215645450	A	T	BARD1	c.1148T>A	NM_000465.4	NP_000456.2:p.(Met383Lys)	NC_000002.11:g.215645450A>T	VUS	2 labs	fd2cca5612
7:128470660 FLNC T>TAGCCCCGGCCGCACCCCC	7	128470660	128470683	T	TAGCCCCGGCCGCACCCCC	FLNC	c.-26_-9dup	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128470666_128470683dup	(Likely) benign	2 labs	fd3692cf3e
2:189849592 COL3A1 C>T	2	189849592	189849592	C	T	COL3A1	c.186C>T	NM_000090.4	NP_000081.2:p.(Cys62=)	NC_000002.11:g.189849592C>T	(Likely) benign	2 labs	fd486b0490
2:179611552 TTN C>T	2	179611552	179611552	C	T	TTN	c.15575G>A	NM_133379.5	NP_596870.2:p.(Arg5192Lys)	NC_000002.11:g.179611552C>T	(Likely) benign	3 labs	fd6053a2f9
2:179453556 TTN G>A	2	179453556	179453556	G	A	TTN	c.62896C>T	NM_001267550.2	NP_001254479.2:p.(Arg20966Cys)	NC_000002.11:g.179453556G>A	VUS	2 labs	fd61d2da5b
10:104465136 ARL3 T>C	10	104465136	104465136	T	C	ARL3	c.114A>G	NM_004311.4	NP_004302.1:p.(Ala38=)	NC_000010.10:g.104465136T>C	(Likely) benign	2 labs	fd79314428
9:32541880 TOPORS G>C	9	32541880	32541880	G	C	TOPORS	c.2643C>G	NM_005802.5	NP_005793.2:p.(His881Gln)	NC_000009.11:g.32541880G>C	(Likely) benign	2 labs	fd7b3edff6
19:13319691 CACNA1A GGAT>G	19	13319691	13319695	GGAT	G	CACNA1A	c.6674_6676del	NM_023035.3	NP_075461.2:p.(His2225del)	NC_000019.9:g.13319693_13319695del	(Likely) benign	2 labs	fd9c1b6d6a
4:114279628 ANK2 T>C	4	114279628	114279628	T	C	ANK2	c.9854T>C	NM_001148.6	NP_001139.3:p.(Ile3285Thr)	NC_000004.11:g.114279628T>C	(Likely) benign	4 labs	fd988549b3
18:29098254 DSG2 A>G	18	29098254	29098254	A	G	DSG2	c.81+17A>G	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29098254A>G	(Likely) benign	2 labs	fda53fe10a
2:219676989 CYP27A1 G>C	2	219676989	219676989	G	C	CYP27A1	c.491G>C	NM_000784.4	NP_000775.1:p.(Arg164Pro)	NC_000002.11:g.219676989G>C	VUS	3 labs	fda5bc1459
15:90294306 MESP1 C>CACGGGGCTCGG	15	90294306	90294307	C	CACGGGGCTCGG	MESP1	c.156_157insCCGAGCCCCGT	NM_018670.3	NP_061140.1:p.(Ala53ProfsTer21)	NC_000015.9:g.90294306_90294307insACGGGGCTCGG	(Likely) benign	4 labs	fda7f48b80
1:216221905 USH2A T>C	1	216221905	216221905	T	C	USH2A	c.6134A>G	NM_206933.4	NP_996816.3:p.(His2045Arg)	NC_000001.10:g.216221905T>C	(Likely) benign	3 labs	fdb2ecd005
3:123419573 MYLK G>T	3	123419573	123419573	G	T	MYLK	c.2742C>A	NM_053025.4	NP_444253.3:p.(Asp914Glu)	NC_000003.11:g.123419573G>T	(Likely) benign	2 labs	fdb5e12a6e
2:179395860 TTN G>T	2	179395860	179395860	G	T	TTN	c.105482C>A	NM_001267550.2	NP_001254479.2:p.(Thr35161Asn)	NC_000002.11:g.179395860G>T	VUS	2 labs	fdb9dda3d4
7:42005587 GLI3 G>A	7	42005587	42005587	G	A	GLI3	c.3084C>T	NM_000168.6	NP_000159.3:p.(Ser1028=)	NC_000007.13:g.42005587G>A	(Likely) benign	2 labs	fdc72709f3
13:73409508 PIBF1 T>TA	13	73409508	73409521	T	TA	PIBF1	c.1223+15dup	NM_006346.4	NP_006337.2:p.?	NC_000013.10:g.73409521dup	(Likely) benign	2 labs	fdca0fe63e
9:32542209 TOPORS G>A	9	32542209	32542209	G	A	TOPORS	c.2314C>T	NM_005802.5	NP_005793.2:p.(Leu772=)	NC_000009.11:g.32542209G>A	(Likely) benign	2 labs	fdd83cec1d
2:211540507 CPS1 C>A	2	211540507	211540507	C	A	CPS1	c.4217C>A	NM_001875.5	NP_001866.2:p.(Thr1406Asn)	NC_000002.11:g.211540507C>A	(Likely) benign	3 labs	fddd412d5c
12:111908545 ATXN2 T>C	12	111908545	111908545	T	C	ATXN2	c.2520A>G	NM_002973.4	NP_002964.4:p.(Val840=)	NC_000012.11:g.111908545T>C	(Likely) benign	2 labs	fde276b952
X:39935709 BCOR C>T	X	39935709	39935709	C	T	BCOR	c.163G>A	NM_001123385.2	NP_001116857.1:p.(Val55Met)	NC_000023.10:g.39935709C>T	VUS	2 labs	fdea026ccd
1:196643027 CFH T>C	1	196643027	196643027	T	C	CFH	c.285T>C	NM_000186.4	NP_000177.2:p.(Thr95=)	NC_000001.10:g.196643027T>C	(Likely) benign	4 labs	fdebb1aeaa
11:47359084 MYBPC3 C>T	11	47359084	47359084	C	T	MYBPC3	c.2460G>A	NM_000256.3	NP_000247.2:p.(Arg820=)	NC_000011.9:g.47359084C>T	(Likely) benign	2 labs	fdf097f435
2:179426335 TTN C>T	2	179426335	179426335	C	T	TTN	c.84524G>A	NM_001267550.2	NP_001254479.2:p.(Trp28175Ter)	NC_000002.11:g.179426335C>T	(Likely) pathogenic	2 labs	fdf4abcf04
2:179595117 TTN C>G	2	179595117	179595117	C	G	TTN	c.18029-19G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595117C>G	(Likely) benign	2 labs	fe06fd1412
1:5935076 NPHP4 C>T	1	5935076	5935076	C	T	NPHP4	c.2902G>A	NM_015102.5	NP_055917.1:p.(Ala968Thr)	NC_000001.10:g.5935076C>T	(Likely) benign	3 labs	fe0e3ae162
10:69281732 CTNNA3 A>G	10	69281732	69281732	A	G	CTNNA3	c.460-13T>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69281732A>G	(Likely) benign	2 labs	fe12432e14
16:69725697 NFAT5 T>G	16	69725697	69725697	T	G	NFAT5	c.1687T>G	NM_138714.4	NP_619728.2:p.(Ser563Ala)	NC_000016.9:g.69725697T>G	(Likely) benign	3 labs	fe15eee611
X:132888222 GPC3 A>G	X	132888222	132888222	A	G	GPC3	c.338-19T>C	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132888222A>G	(Likely) benign	2 labs	fe17b563e2
14:23889296 MYH7 C>G	14	23889296	23889296	C	G	MYH7	c.3484G>C	NM_000257.4	NP_000248.2:p.(Glu1162Gln)	NC_000014.8:g.23889296C>G	VUS	2 labs	fe1a2b4231
1:201336010 TNNT2 T>C	1	201336010	201336010	T	C	TNNT2	c.200-11A>G	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201336010T>C	(Likely) benign	5 labs	fe1ea44355
2:167141109 SCN9A G>T	2	167141109	167141109	G	T	SCN9A	c.1828C>A	NM_002977.3	NP_002968.1:p.(Pro610Thr)	NC_000002.11:g.167141109G>T	(Likely) benign	3 labs	fe1fdc40a1
2:241682385 KIF1A G>A	2	241682385	241682385	G	A	KIF1A	c.3676C>T	NM_001379631.1	NP_001366560.1:p.(Arg1226Cys)	NC_000002.11:g.241682385G>A	VUS	2 labs	fe28585fe1
13:32913070 BRCA2 A>G	13	32913070	32913070	A	G	BRCA2	c.4578A>G	NM_000059.4	NP_000050.3:p.(Thr1526=)	NC_000013.10:g.32913070A>G	(Likely) benign	2 labs	fe35e66ff3
12:2716174 CACNA1C C>T	12	2716174	2716174	C	T	CACNA1C	c.3294C>T	NM_199460.4	NP_955630.3:p.(Asp1098=)	NC_000012.11:g.2716174C>T	(Likely) benign	2 labs	fe37d9c1c9
6:75834971 COL12A1 T>A	6	75834971	75834971	T	A	COL12A1	c.6479A>T	NM_004370.6	NP_004361.3:p.(Glu2160Val)	NC_000006.11:g.75834971T>A	(Likely) benign	2 labs	fe401c6e95
1:237811895 RYR2 G>A	1	237811895	237811895	G	A	RYR2	c.7494G>A	NM_001035.3	NP_001026.2:p.(Ala2498=)	NC_000001.10:g.237811895G>A	(Likely) benign	2 labs	fe445b40b2
6:33147589 COL11A2 T>G	6	33147589	33147589	T	G	COL11A2	c.1360-7A>C	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33147589T>G	(Likely) benign	4 labs	fe46508b96
1:3331193 PRDM16 G>A	1	3331193	3331193	G	A	PRDM16	c.2673G>A	NM_022114.4	NP_071397.3:p.(Pro891=)	NC_000001.10:g.3331193G>A	(Likely) benign	3 labs	fe4d40fc5b
15:85400628 ALPK3 C>T	15	85400628	85400628	C	T	ALPK3	c.2659C>T	NM_020778.5	NP_065829.4:p.(Pro887Ser)	NC_000015.9:g.85400628C>T	VUS	2 labs	fe4d6ebdbb
17:36485887 GPR179 C>A	17	36485887	36485887	C	A	GPR179	c.3565G>T	NM_001004334.4	NP_001004334.3:p.(Glu1189Ter)	NC_000017.10:g.36485887C>A	VUS	2 labs	fe53532810
1:22178111 HSPG2 G>A	1	22178111	22178111	G	A	HSPG2	c.7089C>T	NM_001291860.2	NP_001278789.1:p.(Cys2363=)	NC_000001.10:g.22178111G>A	(Likely) benign	2 labs	fe5b7d3e1e
5:90041434 ADGRV1 G>C	5	90041434	90041434	G	C	ADGRV1	c.10796G>C	NM_032119.4	NP_115495.3:p.(Gly3599Ala)	NC_000005.9:g.90041434G>C	(Likely) benign	2 labs	fe5db49bd7
18:28666574 DSC2 C>T	18	28666574	28666574	C	T	DSC2	c.907G>A	NM_004949.5	NP_004940.1:p.(Val303Met)	NC_000018.9:g.28666574C>T	(Likely) benign	4 labs	fe5e61ad74
16:15878545 MYH11 A>G	16	15878545	15878545	A	G	MYH11	c.654+10T>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15878545A>G	(Likely) benign	3 labs	fe64c2183f
7:128477472 FLNC T>C	7	128477472	128477472	T	C	FLNC	c.720T>C	NM_001458.5	NP_001449.3:p.(Ile240=)	NC_000007.13:g.128477472T>C	(Likely) benign	2 labs	fe674d9782
10:18828486 CACNB2 C>G	10	18828486	18828486	C	G	CACNB2	c.1651C>G	NM_000724.4	NP_000715.2:p.(Arg551Gly)	NC_000010.10:g.18828486C>G	(Likely) benign	2 labs	fe7300aa8a
17:41215376 BRCA1 T>C	17	41215376	41215376	T	C	BRCA1	c.5167A>G	NM_007294.4	NP_009225.1:p.(Ile1723Val)	NC_000017.10:g.41215376T>C	(Likely) benign	3 labs	fe7fc4bb9c
X:110987996 ALG13 A>T	X	110987996	110987996	A	T	ALG13	c.2562A>T	NM_001257231.2	NP_001244160.1:p.(Pro854=)	NC_000023.10:g.110987996A>T	(Likely) benign	3 labs	fe8feadf0a
16:75674252 KARS1 T>TA	16	75674252	75674270	T	TA	KARS1	c.307-6dup	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75674270dup	(Likely) benign	3 labs	fea945151d
9:139396886 NOTCH1 G>A	9	139396886	139396886	G	A	NOTCH1	c.5222C>T	NM_017617.5	NP_060087.3:p.(Ala1741Val)	NC_000009.11:g.139396886G>A	(Likely) benign	2 labs	feaae2f64f
18:19427018 MIB1 G>A	18	19427018	19427018	G	A	MIB1	c.2325G>A	NM_020774.4	NP_065825.1:p.(Ser775=)	NC_000018.9:g.19427018G>A	(Likely) benign	2 labs	feab9d9d7e
7:116340262 MET A>G	7	116340262	116340262	A	G	MET	c.1124A>G	NM_001127500.3	NP_001120972.1:p.(Asn375Ser)	NC_000007.13:g.116340262A>G	(Likely) benign	2 labs	feb4263f04
16:28488943 CLN3 T>C	16	28488943	28488943	T	C	CLN3	c.1211A>G	NM_001042432.2	NP_001035897.1:p.(His404Arg)	NC_000016.9:g.28488943T>C	(Likely) benign	3 labs	feb4383018
15:91292908 BLM A>G	15	91292908	91292908	A	G	BLM	c.410A>G	NM_000057.4	NP_000048.1:p.(Lys137Arg)	NC_000015.9:g.91292908A>G	(Likely) benign	2 labs	fec886ac7a
17:73512653 TSEN54 G>T	17	73512653	73512653	G	T	TSEN54	c.12G>T	NM_207346.3	NP_997229.2:p.(Glu4Asp)	NC_000017.10:g.73512653G>T	(Likely) benign	3 labs	fecb9845cc
20:5283376 PROKR2 G>A	20	5283376	5283376	G	A	PROKR2	c.465C>T	NM_144773.4	NP_658986.1:p.(Leu155=)	NC_000020.10:g.5283376G>A	(Likely) benign	2 labs	fecd627d61
4:126237971 FAT4 C>T	4	126237971	126237971	C	T	FAT4	c.405C>T	NM_001291303.3	NP_001278232.1:p.(Phe135=)	NC_000004.11:g.126237971C>T	(Likely) benign	2 labs	fece35d881
6:123714778 TRDN C>T	6	123714778	123714778	C	T	TRDN	c.1096G>A	NM_006073.4	NP_006064.2:p.(Ala366Thr)	NC_000006.11:g.123714778C>T	(Likely) benign	2 labs	fed2c9e302
2:179478959 TTN C>T	2	179478959	179478959	C	T	TTN	c.49165G>A	NM_001267550.2	NP_001254479.2:p.(Glu16389Lys)	NC_000002.11:g.179478959C>T	VUS	3 labs	fedd214b27
2:8938440 KIDINS220 T>TA	2	8938440	8938448	T	TA	KIDINS220	c.901-11dup	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8938448dup	(Likely) benign	2 labs	feeb85c79a
2:179579822 TTN T>A	2	179579822	179579822	T	A	TTN	c.26091A>T	NM_001267550.2	NP_001254479.2:p.(Leu8697=)	NC_000002.11:g.179579822T>A	(Likely) benign	2 labs	feed16fe42
16:15857760 MYH11 A>C	16	15857760	15857760	A	C	MYH11	c.1034-12T>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15857760A>C	(Likely) benign	3 labs	fef3241416
1:196642969 CFH C>CTT	1	196642969	196642978	C	CTT	CFH	c.245-10_245-9dup	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642977_196642978dup	(Likely) benign	3 labs	fef4b9a97e
1:5926536 NPHP4 AG>A	1	5926536	5926537	AG	A	NPHP4	c.3559-19del	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5926537del	(Likely) benign	2 labs	fef6aa125e
X:119575754 LAMP2 A>G	X	119575754	119575754	A	G	LAMP2	c.929-5T>C	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119575754A>G	(Likely) benign	3 labs	ff04a9dc27
20:42743514 JPH2 G>C	20	42743514	42743514	G	C	JPH2	c.2013C>G	NM_020433.5	NP_065166.2:p.(Val671=)	NC_000020.10:g.42743514G>C	(Likely) benign	2 labs	ff0759f7dc
18:21141415 NPC1 G>A	18	21141415	21141415	G	A	NPC1	c.540C>T	NM_000271.5	NP_000262.2:p.(Asp180=)	NC_000018.9:g.21141415G>A	(Likely) benign	2 labs	ff0ecde537
10:61834876 ANK3 T>C	10	61834876	61834876	T	C	ANK3	c.5763A>G	NM_020987.5	NP_066267.2:p.(Thr1921=)	NC_000010.10:g.61834876T>C	(Likely) benign	2 labs	ff186ca6f3
12:22066017 ABCC9 G>GA	12	22066017	22066027	G	GA	ABCC9	c.817-18dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066027dup	(Likely) benign	3 labs	ff1b12651e
10:67726514 CTNNA3 A>C	10	67726514	67726514	A	C	CTNNA3	c.2266-10T>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67726514A>C	(Likely) benign	3 labs	ff1b29fa86
17:39923722 JUP A>G	17	39923722	39923722	A	G	JUP	c.818T>C	NM_001352773.2	NP_001339702.1:p.(Met273Thr)	NC_000017.10:g.39923722A>G	VUS	2 labs	ff23a4c6cf
15:58855748 LIPC C>T	15	58855748	58855748	C	T	LIPC	c.1214C>T	NM_000236.3	NP_000227.2:p.(Thr405Met)	NC_000015.9:g.58855748C>T	VUS	2 labs	ff332f312f
2:109380157 RANBP2 G>T	2	109380157	109380157	G	T	RANBP2	c.3162G>T	NM_006267.5	NP_006258.3:p.(Gln1054His)	NC_000002.11:g.109380157G>T	(Likely) benign	4 labs	ff382686b4
17:6381346 PITPNM3 T>C	17	6381346	6381346	T	C	PITPNM3	c.849A>G	NM_031220.4	NP_112497.2:p.(Ser283=)	NC_000017.10:g.6381346T>C	(Likely) benign	2 labs	ff3e9265c6
19:55668682 TNNI3 AG>A	19	55668682	55668684	AG	A	TNNI3	c.12-7del	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668684del	(Likely) benign	3 labs	ff496ac7f4
6:30709991 FLOT1 G>A	6	30709991	30709991	G	A	FLOT1	c.-14-11C>T	NM_005803.4	NP_005794.1:p.?	NC_000006.11:g.30709991G>A	(Likely) benign	2 labs	ff4a02a79c
17:36489149 GPR179 G>A	17	36489149	36489149	G	A	GPR179	c.2022C>T	NM_001004334.4	NP_001004334.3:p.(Asp674=)	NC_000017.10:g.36489149G>A	(Likely) benign	2 labs	ff4c11ed54
2:179593893 TTN G>A	2	179593893	179593893	G	A	TTN	c.18872C>T	NM_001267550.2	NP_001254479.2:p.(Pro6291Leu)	NC_000002.11:g.179593893G>A	VUS	3 labs	ff50dd5e5f
X:153609431 EMD T>C	X	153609431	153609431	T	C	EMD	c.639T>C	NM_000117.3	NP_000108.1:p.(Pro213=)	NC_000023.10:g.153609431T>C	(Likely) benign	2 labs	ff5016c2c0
6:56481130 DST C>T	6	56481130	56481130	C	T	DST	c.7135G>A	NM_001723.7	NP_001714.1:p.(Ala2379Thr)	NC_000006.11:g.56481130C>T	(Likely) benign	3 labs	ff59422e15
15:89859994 POLG C>A	15	89859994	89859994	C	A	POLG	c.3708G>T	NM_002693.3	NP_002684.1:p.(Gln1236His)	NC_000015.9:g.89859994C>A	(Likely) benign	5 labs	ff6b82a458
17:63554028 AXIN2 G>A	17	63554028	63554028	G	A	AXIN2	c.711C>T	NM_004655.4	NP_004646.3:p.(Ala237=)	NC_000017.10:g.63554028G>A	(Likely) benign	3 labs	ff67fc66a0
5:77423965 AP3B1 A>C	5	77423965	77423965	A	C	AP3B1	c.1710T>G	NM_001271769.2	NP_001258698.1:p.(Leu570=)	NC_000005.9:g.77423965A>C	(Likely) benign	3 labs	ff6baf98f5
X:49067106 CACNA1F G>A	X	49067106	49067106	G	A	CACNA1F	c.4462C>T	NM_005183.4	NP_005174.2:p.(Arg1488Cys)	NC_000023.10:g.49067106G>A	VUS	2 labs	ff8db5d4fb
X:148037363 AFF2 C>A	X	148037363	148037363	C	A	AFF2	c.1788C>A	NM_002025.4	NP_002016.2:p.(Ala596=)	NC_000023.10:g.148037363C>A	(Likely) benign	2 labs	ff84d8c7cf
2:179603991 TTN T>G	2	179603991	179603991	T	G	TTN	c.13969A>C	NM_001267550.2	NP_001254479.2:p.(Asn4657His)	NC_000002.11:g.179603991T>G	(Likely) benign	5 labs	ff8693e058
18:21136233 NPC1 G>A	18	21136233	21136233	G	A	NPC1	c.1300C>T	NM_000271.5	NP_000262.2:p.(Pro434Ser)	NC_000018.9:g.21136233G>A	(Likely) benign	2 labs	ff930cbafb
12:33022006 PKP2 CA>C	12	33022006	33022007	CA	C	PKP2	c.1035-11del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33022007del	(Likely) benign	2 labs	ffa1ae59ba
17:10555877 MYH3 G>A	17	10555877	10555877	G	A	MYH3	c.208C>T	NM_002470.4	NP_002461.2:p.(Leu70=)	NC_000017.10:g.10555877G>A	(Likely) benign	2 labs	ffa28e485c
6:56346985 DST T>TCACACACACACACACACACACA	6	56346985	56347001	T	TCACACACACACACACACACACA	DST	c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTG	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56347000_56347001insACACACACACACACACACACAC	(Likely) benign	2 labs	ffa4b28336
19:11285231 KANK2 G>A	19	11285231	11285231	G	A	KANK2	c.1986C>T	NM_001136191.3	NP_001129663.1:p.(Ile662=)	NC_000019.9:g.11285231G>A	(Likely) benign	2 labs	ffab5daf9e
17:41251931 BRCA1 G>A	17	41251931	41251931	G	A	BRCA1	c.442-34C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251931G>A	(Likely) benign	4 labs	ffae4beed5
10:112541546 RBM20 C>T	10	112541546	112541546	C	T	RBM20	c.1179C>T	NM_001134363.3	NP_001127835.2:p.(Pro393=)	NC_000010.10:g.112541546C>T	(Likely) benign	4 labs	ffc094980e
1:26139137 SELENON C>T	1	26139137	26139137	C	T	SELENON	c.1282-41C>T	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139137C>T	(Likely) benign	2 labs	ffc614f023
13:111091024 COL4A2 C>T	13	111091024	111091024	C	T	COL4A2	c.912+9C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111091024C>T	(Likely) benign	2 labs	ffca701947
2:179458694 TTN C>T	2	179458694	179458694	C	T	TTN	c.58426G>A	NM_001267550.2	NP_001254479.2:p.(Val19476Ile)	NC_000002.11:g.179458694C>T	(Likely) benign	4 labs	ffcd9a3e99
12:111992031 ATXN2 T>TA	12	111992031	111992045	T	TA	ATXN2	c.289-11dup	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.111992045dup	(Likely) benign	2 labs	ffe7edd64d
7:103212617 RELN A>G	7	103212617	103212617	A	G	RELN	c.4588+14T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103212617A>G	(Likely) benign	2 labs	fffc4f271a
14:23898176 MYH7 G>A	14	23898176	23898176	G	A	MYH7	c.1395C>T	NM_000257.4	NP_000248.2:p.(Phe465=)	NC_000014.8:g.23898176G>A	(Likely) benign	3 labs	ffff3b5424
3:129156717 MBD4 A>G	3	129156717	129156717	A	G	MBD4	c.181T>C	NM_003925.3	NP_003916.1:p.(Cys61Arg)	NC_000003.11:g.129156717A>G	(Likely) benign	2 labs	000460d490
19:49684586 TRPM4 T>A	19	49684586	49684586	T	A	TRPM4	c.1151-20T>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49684586T>A	(Likely) benign	2 labs	006eb11c2b
19:18899718 COMP C>A	19	18899718	18899718	C	A	COMP	c.533G>T	NM_000095.3	NP_000086.2:p.(Cys178Phe)	NC_000019.9:g.18899718C>A	VUS	2 labs	007933e2d2
7:70231263 AUTS2 G>A	7	70231263	70231263	G	A	AUTS2	c.1632G>A	NM_001127231.3	NP_001120703.1:p.(Thr544=)	NC_000007.13:g.70231263G>A	(Likely) benign	2 labs	007990a80a
14:64467358 SYNE2 A>C	14	64467358	64467358	A	C	SYNE2	c.3559A>C	NM_182914.3	NP_878918.2:p.(Ile1187Leu)	NC_000014.8:g.64467358A>C	(Likely) benign	2 labs	007f9ae28f
14:23896043 MYH7 G>A	14	23896043	23896043	G	A	MYH7	c.1987C>T	NM_000257.4	NP_000248.2:p.(Arg663Cys)	NC_000014.8:g.23896043G>A	(Likely) pathogenic	3 labs	0098d0743d
19:39002725 RYR1 A>G	19	39002725	39002725	A	G	RYR1	c.9186A>G	NM_000540.3	NP_000531.2:p.(Pro3062=)	NC_000019.9:g.39002725A>G	(Likely) benign	2 labs	00c6606763
13:52542571 ATP7B A>G	13	52542571	52542571	A	G	ATP7B	c.1707+9T>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542571A>G	(Likely) benign	2 labs	00d12b4a46
11:47354816 MYBPC3 T>TCC	11	47354816	47354818	T	TCC	MYBPC3	c.3257_3258dup	NM_000256.3	NP_000247.2:p.(Lys1087GlyfsTer103)	NC_000011.9:g.47354817_47354818dup	(Likely) pathogenic	3 labs	00f680da6a
16:21272648 CRYM A>G	16	21272648	21272648	A	G	CRYM	c.807T>C	NM_001888.5	NP_001879.1:p.(Phe269=)	NC_000016.9:g.21272648A>G	(Likely) benign	2 labs	0120407e36
8:96272735 CFAP418 T>C	8	96272735	96272735	T	C	CFAP418	c.269A>G	NM_177965.4	NP_808880.1:p.(Asn90Ser)	NC_000008.10:g.96272735T>C	VUS	2 labs	0125569af5
21:34926130 SON T>C	21	34926130	34926130	T	C	SON	c.4593T>C	NM_138927.4	NP_620305.3:p.(Asn1531=)	NC_000021.8:g.34926130T>C	(Likely) benign	2 labs	01287902b3
2:179501248 TTN C>A	2	179501248	179501248	C	A	TTN	c.41206G>T	NM_001267550.2	NP_001254479.2:p.(Ala13736Ser)	NC_000002.11:g.179501248C>A	VUS	2 labs	012b533f36
11:8122059 TUB G>A	11	8122059	8122059	G	A	TUB	c.1291G>A	NM_003320.5	NP_003311.2:p.(Val431Ile)	NC_000011.9:g.8122059G>A	(Likely) benign	2 labs	01374e7acc
7:94050334 COL1A2 C>T	7	94050334	94050334	C	T	COL1A2	c.2309C>T	NM_000089.4	NP_000080.2:p.(Pro770Leu)	NC_000007.13:g.94050334C>T	(Likely) benign	2 labs	01438c12aa
10:112541430 RBM20 C>T	10	112541430	112541430	C	T	RBM20	c.1063C>T	NM_001134363.3	NP_001127835.2:p.(Pro355Ser)	NC_000010.10:g.112541430C>T	VUS	2 labs	01471baf7e
6:123869769 TRDN TA>T	6	123869769	123869784	TA	T	TRDN	c.233-13del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123869784del	(Likely) benign	2 labs	017c12bbc2
10:48388259 RBP3 G>A	10	48388259	48388259	G	A	RBP3	c.2619C>T	NM_002900.3	NP_002891.1:p.(Ala873=)	NC_000010.10:g.48388259G>A	(Likely) benign	2 labs	01aea72d2b
16:68867268 CDH1 G>A	16	68867268	68867268	G	A	CDH1	c.2515G>A	NM_004360.5	NP_004351.1:p.(Gly839Ser)	NC_000016.9:g.68867268G>A	VUS	2 labs	01e3960932
18:25593713 CDH2 G>C	18	25593713	25593713	G	C	CDH2	c.333C>G	NM_001792.5	NP_001783.2:p.(Thr111=)	NC_000018.9:g.25593713G>C	(Likely) benign	2 labs	01f1738c04
2:15432841 NBAS T>C	2	15432841	15432841	T	C	NBAS	c.4847A>G	NM_015909.4	NP_056993.2:p.(His1616Arg)	NC_000002.11:g.15432841T>C	(Likely) benign	2 labs	023c0f71b8
17:40689453 NAGLU T>A	17	40689453	40689453	T	A	NAGLU	c.421T>A	NM_000263.4	NP_000254.2:p.(Ser141Thr)	NC_000017.10:g.40689453T>A	(Likely) benign	2 labs	0255212401
22:24135882 SMARCB1 C>T	22	24135882	24135882	C	T	SMARCB1	c.362+7C>T	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24135882C>T	(Likely) benign	2 labs	0257f7aaf0
15:48766855 FBN1 A>G	15	48766855	48766855	A	G	FBN1	c.3965-8T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48766855A>G	(Likely) benign	2 labs	0258539ff2
2:166852531 SCN1A G>A	2	166852531	166852531	G	A	SCN1A	c.4573C>T	NM_001165963.4	NP_001159435.1:p.(Arg1525Ter)	NC_000002.11:g.166852531G>A	(Likely) pathogenic	2 labs	025fb4b5f9
6:112466014 LAMA4 G>C	6	112466014	112466014	G	C	LAMA4	c.2475C>G	NM_001105206.3	NP_001098676.2:p.(Thr825=)	NC_000006.11:g.112466014G>C	(Likely) benign	2 labs	028d619337
3:123456268 MYLK G>A	3	123456268	123456268	G	A	MYLK	c.711C>T	NM_053025.4	NP_444253.3:p.(Asn237=)	NC_000003.11:g.123456268G>A	(Likely) benign	2 labs	02a7bb87c2
3:78685024 ROBO1 C>T	3	78685024	78685024	C	T	ROBO1	c.3137G>A	NM_133631.4	NP_598334.2:p.(Ser1046Asn)	NC_000003.11:g.78685024C>T	(Likely) benign	2 labs	02dd36e7c7
14:23886775 MYH7 C>A	14	23886775	23886775	C	A	MYH7	c.4290G>T	NM_000257.4	NP_000248.2:p.(Val1430=)	NC_000014.8:g.23886775C>A	(Likely) benign	2 labs	030e3588b8
21:46932129 COL18A1 G>A	21	46932129	46932129	G	A	COL18A1	c.5073G>A	NM_130444.3	NP_569711.2:p.(Ser1691=)	NC_000021.8:g.46932129G>A	(Likely) benign	2 labs	0383e5e11c
9:137630301 COL5A1 CCT>C	9	137630301	137630309	CCT	C	COL5A1	c.1390-12_1390-11del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630308_137630309del	(Likely) benign	2 labs	03979d6338
2:179560064 TTN T>G	2	179560064	179560064	T	G	TTN	c.31270+11A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179560064T>G	(Likely) benign	2 labs	0397c52bbe
17:59937167 BRIP1 T>C	17	59937167	59937167	T	C	BRIP1	c.195A>G	NM_032043.3	NP_114432.2:p.(Gln65=)	NC_000017.10:g.59937167T>C	(Likely) benign	2 labs	03c7f11243
5:149436965 CSF1R G>A	5	149436965	149436965	G	A	CSF1R	c.2222-18C>T	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149436965G>A	(Likely) benign	2 labs	03d85973ed
19:45452429 APOC2 A>C	19	45452429	45452429	A	C	APOC2	c.229A>C	NM_000483.5	NP_000474.2:p.(Lys77Gln)	NC_000019.9:g.45452429A>C	(Likely) benign	3 labs	03dbca91d0
X:38145159 RPGR CT>C	X	38145159	38145160	CT	C	RPGR	c.3092del	NM_001034853.2	NP_001030025.1:p.(Glu1031GlyfsTer58)	NC_000023.10:g.38145160del	(Likely) pathogenic	2 labs	03f03277e8
7:33397476 BBS9 G>A	7	33397476	33397476	G	A	BBS9	c.1562G>A	NM_198428.3	NP_940820.1:p.(Arg521Gln)	NC_000007.13:g.33397476G>A	(Likely) benign	3 labs	0406b3ecb7
15:45408933 DUOXA2 T>C	15	45408933	45408933	T	C	DUOXA2	c.554+6T>C	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45408933T>C	(Likely) benign	2 labs	04114bae08
X:139586494 SOX3 T>G	X	139586494	139586494	T	G	SOX3	c.732A>C	NM_005634.3	NP_005625.2:p.(Ala244=)	NC_000023.10:g.139586494T>G	(Likely) benign	3 labs	041ecc0122
18:19751831 GATA6 T>C	18	19751831	19751831	T	C	GATA6	c.726T>C	NM_005257.6	NP_005248.2:p.(Ala242=)	NC_000018.9:g.19751831T>C	(Likely) benign	2 labs	0431fca7a3
11:62457940 BSCL2 G>A	11	62457940	62457940	G	A	BSCL2	c.1096C>T	NM_032667.6	NP_116056.3:p.(Pro366Ser)	NC_000011.9:g.62457940G>A	(Likely) benign	2 labs	045e1a7e4e
15:38643469 SPRED1 G>A	15	38643469	38643469	G	A	SPRED1	c.939G>A	NM_152594.3	NP_689807.1:p.(Thr313=)	NC_000015.9:g.38643469G>A	(Likely) benign	2 labs	04647459aa
X:149767095 MTM1 T>C	X	149767095	149767095	T	C	MTM1	c.176T>C	NM_001376908.1	NP_001363837.1:p.(Ile59Thr)	NC_000023.10:g.149767095T>C	(Likely) benign	3 labs	04975fccea
16:15851869 MYH11 G>C	16	15851869	15851869	G	C	MYH11	c.1402-12C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15851869G>C	VUS	3 labs	04977467d7
X:118250487 KIAA1210 C>T	X	118250487	118250487	C	T	KIAA1210	c.622G>A	NM_020721.1	NP_065772.1:p.(Val208Ile)	NC_000023.10:g.118250487C>T	(Likely) benign	2 labs	04add29613
11:73753268 C2CD3 C>CA	11	73753268	73753287	C	CA	C2CD3	c.5496-6dup	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73753287dup	(Likely) benign	2 labs	04e7427cf5
22:41916255 ACO2 A>G	22	41916255	41916255	A	G	ACO2	c.1113A>G	NM_001098.3	NP_001089.1:p.(Glu371=)	NC_000022.10:g.41916255A>G	(Likely) benign	2 labs	04edfd4a34
17:7604965 WRAP53 C>T	17	7604965	7604965	C	T	WRAP53	c.823-10C>T	NM_018081.2	NP_060551.2:p.?	NC_000017.10:g.7604965C>T	(Likely) benign	3 labs	05045f821f
1:2160517 SKI A>T	1	2160517	2160517	A	T	SKI	c.312A>T	NM_003036.4	NP_003027.1:p.(Val104=)	NC_000001.10:g.2160517A>T	(Likely) benign	2 labs	0541a8d19c
X:32456459 DMD G>A	X	32456459	32456459	G	A	DMD	c.3970C>T	NM_004006.3	NP_003997.2:p.(Arg1324Cys)	NC_000023.10:g.32456459G>A	(Likely) benign	5 labs	051c17f07f
20:10653466 JAG1 C>A	20	10653466	10653466	C	A	JAG1	c.270G>T	NM_000214.3	NP_000205.1:p.(Gly90=)	NC_000020.10:g.10653466C>A	(Likely) benign	3 labs	05436392cd
3:38766825 SCN10A A>G	3	38766825	38766825	A	G	SCN10A	c.3088-20T>C	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38766825A>G	(Likely) benign	2 labs	054a047d7e
2:63631800 WDPCP G>T	2	63631800	63631800	G	T	WDPCP	c.826-8C>A	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63631800G>T	(Likely) benign	2 labs	054e0f9607
21:44478372 CBS C>T	21	44478372	44478372	C	T	CBS	c.1359-9G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44478372C>T	(Likely) benign	2 labs	0557aebaa7
7:153750045 DPP6 G>T	7	153750045	153750045	G	T	DPP6	c.140G>T	NM_130797.4	NP_570629.2:p.(Arg47Leu)	NC_000007.13:g.153750045G>T	(Likely) benign	3 labs	0572f8b7a0
12:7177172 C1S C>G	12	7177172	7177172	C	G	C1S	c.1284C>G	NM_001734.5	NP_001725.1:p.(Pro428=)	NC_000012.11:g.7177172C>G	(Likely) benign	3 labs	05790e22da
2:189899755 COL5A2 C>T	2	189899755	189899755	C	T	COL5A2	c.4240G>A	NM_000393.5	NP_000384.2:p.(Asp1414Asn)	NC_000002.11:g.189899755C>T	(Likely) benign	3 labs	05b2964557
1:152278775 FLG T>A	1	152278775	152278775	T	A	FLG	c.8587A>T	NM_002016.2	NP_002007.1:p.(Thr2863Ser)	NC_000001.10:g.152278775T>A	(Likely) benign	2 labs	05e60b0444
10:69959260 MYPN G>A	10	69959260	69959260	G	A	MYPN	c.3421G>A	NM_032578.4	NP_115967.2:p.(Ala1141Thr)	NC_000010.10:g.69959260G>A	(Likely) benign	2 labs	05ef856c4e
11:47361343 MYBPC3 T>C	11	47361343	47361343	T	C	MYBPC3	c.1928-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361343T>C	(Likely) pathogenic	2 labs	05fe9ddf9a
3:148899900 CP C>T	3	148899900	148899900	C	T	CP	c.2446G>A	NM_000096.4	NP_000087.2:p.(Val816Ile)	NC_000003.11:g.148899900C>T	(Likely) benign	2 labs	0604f6b292
12:49484933 DHH G>A	12	49484933	49484933	G	A	DHH	c.543C>T	NM_021044.4	NP_066382.1:p.(His181=)	NC_000012.11:g.49484933G>A	(Likely) benign	2 labs	061309caac
8:61654081 CHD7 G>A	8	61654081	61654081	G	A	CHD7	c.90G>A	NM_017780.4	NP_060250.2:p.(Pro30=)	NC_000008.10:g.61654081G>A	(Likely) benign	2 labs	064d556f21
3:184040606 EIF4G1 C>T	3	184040606	184040606	C	T	EIF4G1	c.1796-3C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184040606C>T	(Likely) benign	2 labs	0657a3d7f8
17:40695143 NAGLU G>T	17	40695143	40695143	G	T	NAGLU	c.1119G>T	NM_000263.4	NP_000254.2:p.(Val373=)	NC_000017.10:g.40695143G>T	(Likely) benign	2 labs	0666ac01a6
2:179640686 TTN C>A	2	179640686	179640686	C	A	TTN	c.5905G>T	NM_001267550.2	NP_001254479.2:p.(Asp1969Tyr)	NC_000002.11:g.179640686C>A	VUS	2 labs	068152dfd2
7:81346685 HGF T>C	7	81346685	81346685	T	C	HGF	c.1272-4A>G	NM_000601.6	NP_000592.3:p.?	NC_000007.13:g.81346685T>C	(Likely) benign	3 labs	06784ab1f0
2:121747822 GLI2 G>A	2	121747822	121747822	G	A	GLI2	c.4332G>A	NM_001371271.1	NP_001358200.1:p.(Met1444Ile)	NC_000002.11:g.121747822G>A	(Likely) benign	3 labs	06866b97cc
5:127597421 FBN2 T>A	5	127597421	127597421	T	A	FBN2	c.8364+7A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127597421T>A	(Likely) benign	4 labs	069bc6ae6c
15:66777315 MAP2K1 G>GTC	15	66777315	66777321	G	GTC	MAP2K1	c.694-8_694-7dup	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66777320_66777321dup	(Likely) benign	2 labs	06a028f25b
17:48263369 COL1A1 C>T	17	48263369	48263369	C	T	COL1A1	c.4018G>A	NM_000088.4	NP_000079.2:p.(Gly1340Ser)	NC_000017.10:g.48263369C>T	(Likely) benign	3 labs	06a53a4708
1:196709736 CFH CT>C	1	196709736	196709746	CT	C	CFH	c.2783-3del	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196709746del	(Likely) benign	2 labs	06ab62e404
15:63353098 TPM1 G>A	15	63353098	63353098	G	A	TPM1	c.523G>A	NM_001018004.2	NP_001018004.1:p.(Asp175Asn)	NC_000015.9:g.63353098G>A	(Likely) pathogenic	3 labs	06b72d3c05
11:68192736 LRP5 C>T	11	68192736	68192736	C	T	LRP5	c.3403C>T	NM_002335.4	NP_002326.2:p.(Arg1135Cys)	NC_000011.9:g.68192736C>T	VUS	3 labs	06b85c3496
2:202625831 ALS2 C>T	2	202625831	202625831	C	T	ALS2	c.886G>A	NM_020919.4	NP_065970.2:p.(Ala296Thr)	NC_000002.11:g.202625831C>T	(Likely) benign	3 labs	06ba2c2f01
1:159174683 ACKR1 T>C	1	159174683	159174683	T	C	ACKR1	c.-111T>C	NM_001122951.3	NP_001116423.1:p.?	NC_000001.10:g.159174683T>C	(Likely) benign	2 labs	06c463f9c4
9:98220308 PTCH1 G>A	9	98220308	98220308	G	A	PTCH1	c.2957C>T	NM_001083602.3	NP_001077071.1:p.(Thr986Met)	NC_000009.11:g.98220308G>A	(Likely) benign	4 labs	06e081cb2f
10:73326579 CDH23 C>T	10	73326579	73326579	C	T	CDH23	c.510C>T	NM_022124.6	NP_071407.4:p.(Ser170=)	NC_000010.10:g.73326579C>T	(Likely) benign	2 labs	06dc04e853
14:24550760 NRL G>A	14	24550760	24550760	G	A	NRL	c.399C>T	NM_006177.5	NP_006168.1:p.(Ser133=)	NC_000014.8:g.24550760G>A	(Likely) benign	2 labs	06ef2e8bbc
3:184049382 EIF4G1 C>T	3	184049382	184049382	C	T	EIF4G1	c.4386C>T	NM_182917.4	NP_886553.3:p.(Phe1462=)	NC_000003.11:g.184049382C>T	(Likely) benign	2 labs	06f38e1f95
1:100661987 DBT GAAAAAA>G	1	100661987	100662015	GAAAAAA	G	DBT	c.1282-15_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662010_100662015del	(Likely) benign	2 labs	06f3aac594
9:107624029 ABCA1 C>T	9	107624029	107624029	C	T	ABCA1	c.474G>A	NM_005502.4	NP_005493.2:p.(Leu158=)	NC_000009.11:g.107624029C>T	(Likely) benign	2 labs	07368567ac
1:226923505 ITPKB G>T	1	226923505	226923505	G	T	ITPKB	c.1655C>A	NM_002221.4	NP_002212.3:p.(Pro552Gln)	NC_000001.10:g.226923505G>T	(Likely) benign	3 labs	07407ac3eb
10:69934078 MYPN G>A	10	69934078	69934078	G	A	MYPN	c.2229G>A	NM_032578.4	NP_115967.2:p.(Pro743=)	NC_000010.10:g.69934078G>A	(Likely) benign	2 labs	075f78bcd9
X:153220876 HCFC1 C>T	X	153220876	153220876	C	T	HCFC1	c.2974G>A	NM_005334.3	NP_005325.2:p.(Ala992Thr)	NC_000023.10:g.153220876C>T	(Likely) benign	2 labs	07643e75eb
1:201341260 TNNT2 C>T	1	201341260	201341260	C	T	TNNT2	c.52+13G>A	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201341260C>T	(Likely) benign	2 labs	0783b6f416
5:90002220 ADGRV1 CT>C	5	90002220	90002232	CT	C	ADGRV1	c.8730+21del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002232del	(Likely) benign	2 labs	078692e6c7
16:15917142 MYH11 C>T	16	15917142	15917142	C	T	MYH11	c.472G>A	NM_002474.3	NP_002465.1:p.(Ala158Thr)	NC_000016.9:g.15917142C>T	(Likely) benign	4 labs	0789a39833
20:61981620 CHRNA4 G>A	20	61981620	61981620	G	A	CHRNA4	c.1143C>T	NM_000744.7	NP_000735.1:p.(Ala381=)	NC_000020.10:g.61981620G>A	(Likely) benign	2 labs	079c94fffe
4:120057766 MYOZ2 A>G	4	120057766	120057766	A	G	MYOZ2	c.76+10A>G	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057766A>G	(Likely) benign	2 labs	07c52a8264
12:57884337 MARS1 C>T	12	57884337	57884337	C	T	MARS1	c.680C>T	NM_004990.4	NP_004981.2:p.(Thr227Ile)	NC_000012.11:g.57884337C>T	(Likely) benign	2 labs	07e62c2ca5
7:128488899 FLNC C>T	7	128488899	128488899	C	T	FLNC	c.4790C>T	NM_001458.5	NP_001449.3:p.(Thr1597Met)	NC_000007.13:g.128488899C>T	VUS	2 labs	07fae8e6b6
16:77401554 ADAMTS18 C>T	16	77401554	77401554	C	T	ADAMTS18	c.562G>A	NM_199355.4	NP_955387.1:p.(Glu188Lys)	NC_000016.9:g.77401554C>T	(Likely) benign	2 labs	080cf5bd18
9:80881589 CEP78 A>C	9	80881589	80881589	A	C	CEP78	c.2080A>C	NM_001349839.2	NP_001336768.1:p.(Arg694=)	NC_000009.11:g.80881589A>C	(Likely) benign	2 labs	0811010bdb
8:6389889 ANGPT2 C>G	8	6389889	6389889	C	G	ANGPT2	c.408G>C	NM_001147.3	NP_001138.1:p.(Ala136=)	NC_000008.10:g.6389889C>G	(Likely) benign	2 labs	0813bc550e
7:128492747 FLNC G>A	7	128492747	128492747	G	A	FLNC	c.5945G>A	NM_001458.5	NP_001449.3:p.(Arg1982His)	NC_000007.13:g.128492747G>A	VUS	2 labs	0814765f28
9:136221557 SURF1 A>G	9	136221557	136221557	A	G	SURF1	c.280T>C	NM_003172.4	NP_003163.1:p.(Leu94=)	NC_000009.11:g.136221557A>G	(Likely) benign	2 labs	0819408c29
8:10468408 RP1L1 C>G	8	10468408	10468408	C	G	RP1L1	c.3200G>C	NM_178857.6	NP_849188.4:p.(Gly1067Ala)	NC_000008.10:g.10468408C>G	(Likely) benign	2 labs	082af60759
17:3563574 CTNS G>A	17	3563574	3563574	G	A	CTNS	c.1015G>A	NM_004937.3	NP_004928.2:p.(Gly339Arg)	NC_000017.10:g.3563574G>A	(Likely) pathogenic	3 labs	083eba7624
6:129786444 LAMA2 T>A	6	129786444	129786444	T	A	LAMA2	c.7300+10T>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129786444T>A	(Likely) benign	2 labs	087fbabe76
10:12149981 DHTKD1 C>A	10	12149981	12149981	C	A	DHTKD1	c.2121C>A	NM_018706.7	NP_061176.4:p.(Asp707Glu)	NC_000010.10:g.12149981C>A	(Likely) benign	2 labs	088e17d0e5
6:26087718 HFE C>T	6	26087718	26087718	C	T	HFE	c.50C>T	NM_000410.4	NP_000401.1:p.(Thr17Ile)	NC_000006.11:g.26087718C>T	(Likely) benign	2 labs	08a0fff128
3:38784029 SCN10A T>C	3	38784029	38784029	T	C	SCN10A	c.1868-9A>G	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38784029T>C	(Likely) benign	2 labs	08a34d12c9
15:48760739 FBN1 C>T	15	48760739	48760739	C	T	FBN1	c.4460-8G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760739C>T	(Likely) pathogenic	2 labs	08a816a718
15:90189161 KIF7 C>T	15	90189161	90189161	C	T	KIF7	c.1885G>A	NM_198525.3	NP_940927.2:p.(Glu629Lys)	NC_000015.9:g.90189161C>T	(Likely) benign	4 labs	08af00fceb
7:107323951 SLC26A4 A>T	7	107323951	107323951	A	T	SLC26A4	c.970A>T	NM_000441.2	NP_000432.1:p.(Asn324Tyr)	NC_000007.13:g.107323951A>T	(Likely) benign	2 labs	08c2ab558c
8:55538471 RP1 C>T	8	55538471	55538471	C	T	RP1	c.2029C>T	NM_006269.2	NP_006260.1:p.(Arg677Ter)	NC_000008.10:g.55538471C>T	(Likely) pathogenic	2 labs	08c4be9b53
7:42004651 GLI3 G>A	7	42004651	42004651	G	A	GLI3	c.4020C>T	NM_000168.6	NP_000159.3:p.(Pro1340=)	NC_000007.13:g.42004651G>A	(Likely) benign	3 labs	08cd257846
7:150649750 KCNH2 C>A	7	150649750	150649750	C	A	KCNH2	c.1320G>T	NM_000238.4	NP_000229.1:p.(Pro440=)	NC_000007.13:g.150649750C>A	(Likely) benign	2 labs	08ef0cd0c5
2:32460624 NLRC4 G>A	2	32460624	32460624	G	A	NLRC4	c.2628C>T	NM_021209.4	NP_067032.3:p.(Asn876=)	NC_000002.11:g.32460624G>A	(Likely) benign	2 labs	08f3624749
19:7607769 PNPLA6 C>T	19	7607769	7607769	C	T	PNPLA6	c.1512C>T	NM_001166111.2	NP_001159583.1:p.(Ile504=)	NC_000019.9:g.7607769C>T	(Likely) benign	2 labs	0905c1255a
2:179424883 TTN T>G	2	179424883	179424883	T	G	TTN	c.85976A>C	NM_001267550.2	NP_001254479.2:p.(Lys28659Thr)	NC_000002.11:g.179424883T>G	VUS	2 labs	091dee140d
16:68856041 CDH1 G>A	16	68856041	68856041	G	A	CDH1	c.1849G>A	NM_004360.5	NP_004351.1:p.(Ala617Thr)	NC_000016.9:g.68856041G>A	(Likely) benign	2 labs	0949ebf288
1:197390850 CRB1 A>G	1	197390850	197390850	A	G	CRB1	c.1685A>G	NM_001257965.2	NP_001244894.1:p.(Tyr562Cys)	NC_000001.10:g.197390850A>G	(Likely) pathogenic	2 labs	094f12bd8a
19:39008003 RYR1 G>A	19	39008003	39008003	G	A	RYR1	c.9690G>A	NM_000540.3	NP_000531.2:p.(Leu3230=)	NC_000019.9:g.39008003G>A	(Likely) benign	2 labs	0955a6323e
21:47545398 COL6A2 C>T	21	47545398	47545398	C	T	COL6A2	c.1836C>T	NM_058175.3	NP_478055.2:p.(Gly612=)	NC_000021.8:g.47545398C>T	(Likely) benign	2 labs	095dcb39fb
1:186151390 HMCN1 A>G	1	186151390	186151390	A	G	HMCN1	c.16385A>G	NM_031935.3	NP_114141.2:p.(Gln5462Arg)	NC_000001.10:g.186151390A>G	(Likely) benign	2 labs	0979f89b8d
2:179415833 TTN G>A	2	179415833	179415833	G	A	TTN	c.91425C>T	NM_001267550.2	NP_001254479.2:p.(Asp30475=)	NC_000002.11:g.179415833G>A	(Likely) benign	3 labs	0984808ef1
19:11102006 SMARCA4 T>C	19	11102006	11102006	T	C	SMARCA4	c.1419+7T>C	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11102006T>C	(Likely) benign	2 labs	09a963cf49
2:179469476 TTN AT>A	2	179469476	179469478	AT	A	TTN	c.54339del	NM_001267550.2	NP_001254479.2:p.(Glu18113AspfsTer10)	NC_000002.11:g.179469478del	(Likely) pathogenic	2 labs	099cb4fa55
4:6302709 WFS1 A>G	4	6302709	6302709	A	G	WFS1	c.1187A>G	NM_006005.3	NP_005996.2:p.(Asn396Ser)	NC_000004.11:g.6302709A>G	VUS	3 labs	09b05f0b61
1:92944314 GFI1 C>CAGAGAG	1	92944314	92944351	C	CAGAGAG	GFI1	c.925-10_925-5dup	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944346_92944351dup	(Likely) benign	4 labs	09b419230c
2:179428948 TTN A>G	2	179428948	179428948	A	G	TTN	c.81911T>C	NM_001267550.2	NP_001254479.2:p.(Ile27304Thr)	NC_000002.11:g.179428948A>G	VUS	2 labs	09e2943957
19:55665563 TNNI3 C>T	19	55665563	55665563	C	T	TNNI3	c.384G>A	NM_000363.5	NP_000354.4:p.(Leu128=)	NC_000019.9:g.55665563C>T	(Likely) benign	2 labs	09ecfef4f8
11:62159696 ASRGL1 G>A	11	62159696	62159696	G	A	ASRGL1	c.867G>A	NM_001083926.2	NP_001077395.1:p.(Lys289=)	NC_000011.9:g.62159696G>A	(Likely) benign	2 labs	09f48fd7e9
9:4118585 GLIS3 G>T	9	4118585	4118585	G	T	GLIS3	c.893C>A	NM_001042413.2	NP_001035878.1:p.(Ser298Tyr)	NC_000009.11:g.4118585G>T	(Likely) benign	3 labs	09fc69f314
2:179587155 TTN A>G	2	179587155	179587155	A	G	TTN	c.18627T>C	NM_133378.4	NP_596869.4:p.(Tyr6209=)	NC_000002.11:g.179587155A>G	(Likely) benign	2 labs	0a3e1c93d5
17:41223091 BRCA1 G>A	17	41223091	41223091	G	A	BRCA1	c.4840C>T	NM_007294.4	NP_009225.1:p.(Pro1614Ser)	NC_000017.10:g.41223091G>A	(Likely) benign	3 labs	0a4a237cf0
12:111351124 MYL2 C>T	12	111351124	111351124	C	T	MYL2	c.279G>A	NM_000432.4	NP_000423.2:p.(Ala93=)	NC_000012.11:g.111351124C>T	(Likely) benign	3 labs	0a5306e61d
12:33021915 PKP2 A>G	12	33021915	33021915	A	G	PKP2	c.1116T>C	NM_004572.4	NP_004563.2:p.(Ala372=)	NC_000012.11:g.33021915A>G	(Likely) benign	2 labs	0a6f42db7e
3:38892069 SCN11A C>T	3	38892069	38892069	C	T	SCN11A	c.4230G>A	NM_014139.3	NP_054858.2:p.(Thr1410=)	NC_000003.11:g.38892069C>T	(Likely) benign	2 labs	0a7da054e0
4:1807278 FGFR3 G>T	4	1807278	1807278	G	T	FGFR3	c.1535-8G>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807278G>T	(Likely) benign	2 labs	0a8baa18a7
16:2159486 PKD1 G>A	16	2159486	2159486	G	A	PKD1	c.5682C>T	NM_001009944.3	NP_001009944.3:p.(Ala1894=)	NC_000016.9:g.2159486G>A	(Likely) benign	3 labs	0a9539b798
11:76901193 MYO7A G>A	11	76901193	76901193	G	A	MYO7A	c.3750+9G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76901193G>A	(Likely) benign	2 labs	0aa459887b
10:73539199 CDH23 C>T	10	73539199	73539199	C	T	CDH23	c.5363C>T	NM_022124.6	NP_071407.4:p.(Pro1788Leu)	NC_000010.10:g.73539199C>T	VUS	3 labs	0ab063d4ee
4:114203944 ANK2 A>G	4	114203944	114203944	A	G	ANK2	c.1995A>G	NM_001148.6	NP_001139.3:p.(Pro665=)	NC_000004.11:g.114203944A>G	(Likely) benign	2 labs	0ab26ef69e
14:45658449 FANCM A>G	14	45658449	45658449	A	G	FANCM	c.5224A>G	NM_020937.4	NP_065988.1:p.(Ile1742Val)	NC_000014.8:g.45658449A>G	(Likely) benign	2 labs	0aea53a6e0
14:102471438 DYNC1H1 G>T	14	102471438	102471438	G	T	DYNC1H1	c.5298G>T	NM_001376.5	NP_001367.2:p.(Leu1766=)	NC_000014.8:g.102471438G>T	(Likely) benign	2 labs	0b19667872
12:56094894 ITGA7 G>C	12	56094894	56094894	G	C	ITGA7	c.459C>G	NM_002206.3	NP_002197.2:p.(Ile153Met)	NC_000012.11:g.56094894G>C	(Likely) benign	3 labs	0b389a3884
1:12023643 PLOD1 C>T	1	12023643	12023643	C	T	PLOD1	c.1152C>T	NM_000302.4	NP_000293.2:p.(Asp384=)	NC_000001.10:g.12023643C>T	(Likely) benign	2 labs	0b69e81953
16:89805301 FANCA G>C	16	89805301	89805301	G	C	FANCA	c.4249C>G	NM_000135.4	NP_000126.2:p.(His1417Asp)	NC_000016.9:g.89805301G>C	(Likely) benign	4 labs	0b6f519ba6
5:121413500 LOX C>G	5	121413500	121413500	C	G	LOX	c.181G>C	NM_002317.7	NP_002308.2:p.(Gly61Arg)	NC_000005.9:g.121413500C>G	VUS	2 labs	0b933b19fd
10:73468927 CDH23 G>A	10	73468927	73468927	G	A	CDH23	c.3179G>A	NM_022124.6	NP_071407.4:p.(Arg1060Gln)	NC_000010.10:g.73468927G>A	VUS	2 labs	0b9708c2e6
3:132213034 DNAJC13 A>G	3	132213034	132213034	A	G	DNAJC13	c.3872A>G	NM_015268.4	NP_056083.3:p.(Glu1291Gly)	NC_000003.11:g.132213034A>G	(Likely) benign	2 labs	0bc1aba517
11:22276946 ANO5 C>T	11	22276946	22276946	C	T	ANO5	c.1210C>T	NM_213599.3	NP_998764.1:p.(Arg404Ter)	NC_000011.9:g.22276946C>T	(Likely) pathogenic	2 labs	0bd7e8e383
17:41245337 BRCA1 TG>T	17	41245337	41245338	TG	T	BRCA1	c.2210del	NM_007294.4	NP_009225.1:p.(Thr737LysfsTer16)	NC_000017.10:g.41245338del	(Likely) pathogenic	2 labs	0bd2d30887
3:123368045 MYLK G>C	3	123368045	123368045	G	C	MYLK	c.4289-4C>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123368045G>C	(Likely) benign	2 labs	0bda81b6eb
2:8919276 KIDINS220 C>T	2	8919276	8919276	C	T	KIDINS220	c.2371-7G>A	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8919276C>T	(Likely) benign	2 labs	0bdb08e8e4
11:47360235 MYBPC3 G>A	11	47360235	47360235	G	A	MYBPC3	c.2149-5C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360235G>A	(Likely) benign	5 labs	0bf4172001
7:117267766 CFTR C>T	7	117267766	117267766	C	T	CFTR	c.3659C>T	NM_000492.4	NP_000483.3:p.(Thr1220Ile)	NC_000007.13:g.117267766C>T	VUS	2 labs	0bf9802b0d
14:51095112 ATL1 C>T	14	51095112	51095112	C	T	ATL1	c.1483C>T	NM_001127713.1	NP_001121185.1:p.(Arg495Trp)	NC_000014.8:g.51095112C>T	(Likely) pathogenic	2 labs	0c08fd633f
1:43394913 SLC2A1 C>T	1	43394913	43394913	C	T	SLC2A1	c.940G>A	NM_006516.4	NP_006507.2:p.(Gly314Ser)	NC_000001.10:g.43394913C>T	(Likely) pathogenic	2 labs	0c24c2c01f
10:18828464 CACNB2 T>C	10	18828464	18828464	T	C	CACNB2	c.1629T>C	NM_000724.4	NP_000715.2:p.(Ser543=)	NC_000010.10:g.18828464T>C	(Likely) benign	2 labs	0c51d9d5d2
11:6411935 SMPD1 TGCTGGC>T	11	6411935	6411971	TGCTGGC	T	SMPD1	c.138_143del	NM_000543.5	NP_000534.3:p.(Ala48_Leu49del)	NC_000011.9:g.6411966_6411971del	(Likely) benign	3 labs	0c57b54bb6
8:145542365 DGAT1 C>T	8	145542365	145542365	C	T	DGAT1	c.465G>A	NM_012079.6	NP_036211.2:p.(Ala155=)	NC_000008.10:g.145542365C>T	(Likely) benign	2 labs	0c53f3b589
2:179553393 TTN C>T	2	179553393	179553393	C	T	TTN	c.32197+11G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179553393C>T	(Likely) benign	2 labs	0c68f78429
4:22439975 ADGRA3 C>T	4	22439975	22439975	C	T	ADGRA3	c.989G>A	NM_145290.4	NP_660333.2:p.(Arg330His)	NC_000004.11:g.22439975C>T	VUS	2 labs	0c9fdc6670
2:179615321 TTN G>T	2	179615321	179615321	G	T	TTN	c.11806C>A	NM_133379.5	NP_596870.2:p.(Arg3936=)	NC_000002.11:g.179615321G>T	(Likely) benign	2 labs	0cb5a26557
17:61492917 TANC2 G>A	17	61492917	61492917	G	A	TANC2	c.3797G>A	NM_025185.4	NP_079461.2:p.(Arg1266His)	NC_000017.10:g.61492917G>A	VUS	2 labs	0cb819c02d
7:91632013 AKAP9 T>C	7	91632013	91632013	T	C	AKAP9	c.2782T>C	NM_005751.5	NP_005742.4:p.(Leu928=)	NC_000007.13:g.91632013T>C	(Likely) benign	2 labs	0cbe27f3d2
1:115829178 NGF C>T	1	115829178	115829178	C	T	NGF	c.239G>A	NM_002506.3	NP_002497.2:p.(Arg80Gln)	NC_000001.10:g.115829178C>T	(Likely) benign	2 labs	0cc89d501a
13:52544805 ATP7B C>G	13	52544805	52544805	C	G	ATP7B	c.1366G>C	NM_000053.4	NP_000044.2:p.(Val456Leu)	NC_000013.10:g.52544805C>G	(Likely) benign	4 labs	0cede2209c
17:42428798 GRN G>A	17	42428798	42428798	G	A	GRN	c.903G>A	NM_002087.4	NP_002078.1:p.(Ser301=)	NC_000017.10:g.42428798G>A	(Likely) benign	4 labs	0cf61d1342
2:179418375 TTN G>A	2	179418375	179418375	G	A	TTN	c.89357C>T	NM_001267550.2	NP_001254479.2:p.(Thr29786Ile)	NC_000002.11:g.179418375G>A	VUS	2 labs	0d0c1ab47b
19:38934252 RYR1 C>T	19	38934252	38934252	C	T	RYR1	c.325C>T	NM_000540.3	NP_000531.2:p.(Arg109Trp)	NC_000019.9:g.38934252C>T	(Likely) pathogenic	2 labs	0d0d8e98de
2:179569401 TTN G>A	2	179569401	179569401	G	A	TTN	c.29798C>T	NM_001267550.2	NP_001254479.2:p.(Ser9933Leu)	NC_000002.11:g.179569401G>A	VUS	2 labs	0d2e733f0e
2:48010614 MSH6 C>T	2	48010614	48010614	C	T	MSH6	c.242C>T	NM_000179.3	NP_000170.1:p.(Ala81Val)	NC_000002.11:g.48010614C>T	VUS	2 labs	0d41ffc0a7
17:79478243 ACTG1 G>A	17	79478243	79478243	G	A	ACTG1	c.773C>T	NM_001199954.3	NP_001186883.1:p.(Pro258Leu)	NC_000017.10:g.79478243G>A	(Likely) pathogenic	2 labs	0d5b9654bb
9:35683241 TPM2 G>GT	9	35683241	35683242	G	GT	TPM2	c.773-4_773-3insA	NM_001301227.2	NP_001288156.1:p.?	NC_000009.11:g.35683241_35683242insT	(Likely) benign	2 labs	0d5dc92573
20:10620474 JAG1 T>G	20	10620474	10620474	T	G	JAG1	c.3329A>C	NM_000214.3	NP_000205.1:p.(Asn1110Thr)	NC_000020.10:g.10620474T>G	(Likely) benign	3 labs	0d653204ed
1:235840495 LYST G>T	1	235840495	235840495	G	T	LYST	c.10941-7C>A	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235840495G>T	(Likely) benign	4 labs	0d894942b4
7:103202406 RELN CAA>C	7	103202406	103202425	CAA	C	RELN	c.5211-8_5211-7del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202424_103202425del	(Likely) benign	5 labs	0de3e37065
9:137653755 COL5A1 C>G	9	137653755	137653755	C	G	COL5A1	c.1936-16C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137653755C>G	(Likely) benign	2 labs	0defbebe94
3:123359357 MYLK G>A	3	123359357	123359357	G	A	MYLK	c.4620-6C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123359357G>A	(Likely) benign	3 labs	0e11b32013
1:156106981 LMNA C>T	1	156106981	156106981	C	T	LMNA	c.1566C>T	NM_170707.4	NP_733821.1:p.(Cys522=)	NC_000001.10:g.156106981C>T	(Likely) benign	4 labs	0e1d3f914e
20:10632861 JAG1 G>A	20	10632861	10632861	G	A	JAG1	c.924C>T	NM_000214.3	NP_000205.1:p.(Asn308=)	NC_000020.10:g.10632861G>A	(Likely) benign	3 labs	0e2fcd90c0
5:127727830 FBN2 A>G	5	127727830	127727830	A	G	FBN2	c.1484T>C	NM_001999.4	NP_001990.2:p.(Ile495Thr)	NC_000005.9:g.127727830A>G	VUS	2 labs	0e742f8626
2:48027522 MSH6 T>C	2	48027522	48027522	T	C	MSH6	c.2400T>C	NM_000179.3	NP_000170.1:p.(Val800=)	NC_000002.11:g.48027522T>C	(Likely) benign	2 labs	0e73693e43
13:23912304 SACS G>C	13	23912304	23912304	G	C	SACS	c.5711C>G	NM_014363.6	NP_055178.3:p.(Thr1904Arg)	NC_000013.10:g.23912304G>C	VUS	2 labs	0e7b7d0f36
5:138147949 CTNNA1 T>G	5	138147949	138147949	T	G	CTNNA1	c.546T>G	NM_001903.5	NP_001894.2:p.(Pro182=)	NC_000005.9:g.138147949T>G	(Likely) benign	2 labs	0e7daaccc8
3:148930218 CP G>A	3	148930218	148930218	G	A	CP	c.394+20C>T	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148930218G>A	(Likely) benign	3 labs	0ebb5bfe54
7:73466141 ELN G>A	7	73466141	73466141	G	A	ELN	c.861G>A	NM_000501.4	NP_000492.2:p.(Gly287=)	NC_000007.13:g.73466141G>A	(Likely) benign	2 labs	0ebefd7962
3:38629006 SCN5A TA>T	3	38629006	38629007	TA	T	SCN5A	c.2320del	NM_198056.3	NP_932173.1:p.(Tyr774ThrfsTer28)	NC_000003.11:g.38629007del	(Likely) pathogenic	3 labs	0ed135ea33
7:91727408 AKAP9 G>C	7	91727408	91727408	G	C	AKAP9	c.10608-15G>C	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91727408G>C	(Likely) benign	2 labs	0eebfc1f32
11:108216583 ATM T>C	11	108216583	108216583	T	C	ATM	c.8532T>C	NM_000051.4	NP_000042.3:p.(Ile2844=)	NC_000011.9:g.108216583T>C	(Likely) benign	3 labs	0efa111ca6
17:39925248 JUP C>T	17	39925248	39925248	C	T	JUP	c.680G>A	NM_001352773.2	NP_001339702.1:p.(Gly227Asp)	NC_000017.10:g.39925248C>T	VUS	2 labs	0f2bf99880
11:47355103 MYBPC3 C>T	11	47355103	47355103	C	T	MYBPC3	c.3190+5G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355103C>T	(Likely) pathogenic	2 labs	0f2cd08b73
4:119745884 SEC24D G>A	4	119745884	119745884	G	A	SEC24D	c.139C>T	NM_001318066.2	NP_001304995.1:p.(Pro47Ser)	NC_000004.11:g.119745884G>A	(Likely) benign	2 labs	0f32708a72
21:27254077 APP G>A	21	27254077	27254077	G	A	APP	c.2217C>T	NM_000484.4	NP_000475.1:p.(Asp739=)	NC_000021.8:g.27254077G>A	(Likely) benign	2 labs	0f34a6839d
9:135202788 SETX T>C	9	135202788	135202788	T	C	SETX	c.4197A>G	NM_001351527.2	NP_001338456.1:p.(Thr1399=)	NC_000009.11:g.135202788T>C	(Likely) benign	3 labs	0f43a41fc6
14:102455034 DYNC1H1 C>T	14	102455034	102455034	C	T	DYNC1H1	c.2719-6C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102455034C>T	(Likely) benign	3 labs	0f43dd5ff4
2:85766473 MAT2A C>T	2	85766473	85766473	C	T	MAT2A	c.63C>T	NM_005911.6	NP_005902.1:p.(Thr21=)	NC_000002.11:g.85766473C>T	(Likely) benign	2 labs	0f4c1a77e1
11:534242 HRAS A>G	11	534242	534242	A	G	HRAS	c.81T>C	NM_176795.5	NP_789765.1:p.(His27=)	NC_000011.9:g.534242A>G	(Likely) benign	2 labs	0f65bee7ef
21:47552388 COL6A2 C>T	21	47552388	47552388	C	T	COL6A2	c.2982C>T	NM_001849.4	NP_001840.3:p.(Ala994=)	NC_000021.8:g.47552388C>T	(Likely) benign	2 labs	0f77204265
17:7579470 TP53 C>CG	17	7579470	7579476	C	CG	TP53	c.216dup	NM_000546.6	NP_000537.3:p.(Val73ArgfsTer76)	NC_000017.10:g.7579476dup	(Likely) pathogenic	2 labs	0f9687ac5b
8:61761616 CHD7 C>T	8	61761616	61761616	C	T	CHD7	c.5307C>T	NM_017780.4	NP_060250.2:p.(Ala1769=)	NC_000008.10:g.61761616C>T	(Likely) benign	3 labs	100065dfbc
X:135405024 ADGRG4 G>A	X	135405024	135405024	G	A	ADGRG4	c.158G>A	NM_153834.4	NP_722576.3:p.(Ser53Asn)	NC_000023.10:g.135405024G>A	(Likely) benign	2 labs	10400ef2b0
15:48758017 FBN1 G>A	15	48758017	48758017	G	A	FBN1	c.4786C>T	NM_000138.5	NP_000129.3:p.(Arg1596Ter)	NC_000015.9:g.48758017G>A	(Likely) pathogenic	2 labs	1040bd07cf
17:36483477 GPR179 C>T	17	36483477	36483477	C	T	GPR179	c.5975G>A	NM_001004334.4	NP_001004334.3:p.(Gly1992Asp)	NC_000017.10:g.36483477C>T	(Likely) benign	2 labs	106258753a
6:56500447 DST C>T	6	56500447	56500447	C	T	DST	c.3027G>A	NM_001144769.5	NP_001138241.1:p.(Lys1009=)	NC_000006.11:g.56500447C>T	(Likely) benign	2 labs	1074c66701
1:40777804 COL9A2 T>C	1	40777804	40777804	T	C	COL9A2	c.364-20A>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40777804T>C	(Likely) benign	2 labs	107c14eaf6
14:23852497 MYH6 T>C	14	23852497	23852497	T	C	MYH6	c.5598A>G	NM_002471.4	NP_002462.2:p.(Leu1866=)	NC_000014.8:g.23852497T>C	(Likely) benign	4 labs	108a1f56d6
6:7583830 DSP AG>A	6	7583830	7583831	AG	A	DSP	c.6336del	NM_004415.4	NP_004406.2:p.(Asn2114IlefsTer2)	NC_000006.11:g.7583831del	(Likely) pathogenic	2 labs	10a0d57a75
12:22068629 ABCC9 G>A	12	22068629	22068629	G	A	ABCC9	c.789C>T	NM_020297.4	NP_064693.2:p.(Cys263=)	NC_000012.11:g.22068629G>A	(Likely) benign	4 labs	10cb658090
13:32921032 BRCA2 C>T	13	32921032	32921032	C	T	BRCA2	c.7006C>T	NM_000059.4	NP_000050.3:p.(Arg2336Cys)	NC_000013.10:g.32921032C>T	(Likely) benign	2 labs	10e5f0d13f
6:123581789 TRDN G>GA	6	123581789	123581804	G	GA	TRDN	c.1805-7dup	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581804dup	(Likely) benign	4 labs	1117418a5a
2:27603361 ZNF513 G>A	2	27603361	27603361	G	A	ZNF513	c.33C>T	NM_144631.6	NP_653232.3:p.(Pro11=)	NC_000002.11:g.27603361G>A	(Likely) benign	2 labs	112ee2342a
1:17326540 ATP13A2 G>A	1	17326540	17326540	G	A	ATP13A2	c.990C>T	NM_001141973.3	NP_001135445.1:p.(Ala330=)	NC_000001.10:g.17326540G>A	(Likely) benign	2 labs	11335fced8
9:101867537 TGFBR1 TGGC>T	9	101867537	101867565	TGGC	T	TGFBR1	c.76_78del	NM_004612.4	NP_004603.1:p.(Ala26del)	NC_000009.11:g.101867563_101867565del	(Likely) benign	3 labs	11853c4911
15:48779352 FBN1 C>T	15	48779352	48779352	C	T	FBN1	c.3509G>A	NM_000138.5	NP_000129.3:p.(Arg1170His)	NC_000015.9:g.48779352C>T	(Likely) benign	5 labs	119de68fd2
6:76633385 IMPG1 C>T	6	76633385	76633385	C	T	IMPG1	c.2282G>A	NM_001563.4	NP_001554.2:p.(Ser761Asn)	NC_000006.11:g.76633385C>T	(Likely) benign	2 labs	11a418099f
6:35477011 TULP1 C>A	6	35477011	35477011	C	A	TULP1	c.797G>T	NM_003322.6	NP_003313.3:p.(Gly266Val)	NC_000006.11:g.35477011C>A	VUS	4 labs	11ae0678d1
2:179583522 TTN C>T	2	179583522	179583522	C	T	TTN	c.23454G>A	NM_001256850.1	NP_001243779.1:p.(Leu7818=)	NC_000002.11:g.179583522C>T	(Likely) benign	3 labs	11b6953eb0
17:29685481 NF1 CT>C	17	29685481	29685490	CT	C	NF1	c.7971-8del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685490del	(Likely) benign	2 labs	11bb959273
2:179600275 TTN A>G	2	179600275	179600275	A	G	TTN	c.14898T>C	NM_001267550.2	NP_001254479.2:p.(Ala4966=)	NC_000002.11:g.179600275A>G	(Likely) benign	2 labs	11ce5a8a5d
12:32945435 PKP2 T>TA	12	32945435	32945437	T	TA	PKP2	c.2578-10dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32945437dup	(Likely) benign	2 labs	11e5400e25
22:29099571 CHEK2 A>G	22	29099571	29099571	A	G	CHEK2	c.847-17T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29099571A>G	(Likely) benign	5 labs	120086e78f
12:32974401 PKP2 C>T	12	32974401	32974401	C	T	PKP2	c.2034G>A	NM_004572.4	NP_004563.2:p.(Trp678Ter)	NC_000012.11:g.32974401C>T	(Likely) pathogenic	2 labs	1211728dde
3:38647549 SCN5A C>T	3	38647549	38647549	C	T	SCN5A	c.1231G>A	NM_001099404.2	NP_001092874.1:p.(Val411Met)	NC_000003.11:g.38647549C>T	(Likely) pathogenic	2 labs	1219d7ceb2
11:17449950 ABCC8 G>C	11	17449950	17449950	G	C	ABCC8	c.1926C>G	NM_000352.6	NP_000343.2:p.(Pro642=)	NC_000011.9:g.17449950G>C	(Likely) benign	2 labs	1245aa1f0c
6:32056708 TNXB C>T	6	32056708	32056708	C	T	TNXB	c.2633G>A	NM_019105.8	NP_061978.6:p.(Gly878Asp)	NC_000006.11:g.32056708C>T	VUS	3 labs	125ca754fe
X:24759542 POLA1 A>G	X	24759542	24759542	A	G	POLA1	c.2249A>G	NM_016937.4	NP_058633.2:p.(Lys750Arg)	NC_000023.10:g.24759542A>G	(Likely) benign	3 labs	126c2670da
11:47368984 MYBPC3 TC>T	11	47368984	47368985	TC	T	MYBPC3	c.897del	NM_000256.3	NP_000247.2:p.(Lys301ArgfsTer49)	NC_000011.9:g.47368985del	(Likely) pathogenic	4 labs	1275b939f8
2:179405034 TTN G>A	2	179405034	179405034	G	A	TTN	c.97859C>T	NM_001267550.2	NP_001254479.2:p.(Ala32620Val)	NC_000002.11:g.179405034G>A	(Likely) benign	2 labs	12c27274c7
2:238296775 COL6A3 TC>T	2	238296775	238296777	TC	T	COL6A3	c.761del	NM_004369.4	NP_004360.2:p.(Gly254GlufsTer13)	NC_000002.11:g.238296777del	(Likely) pathogenic	3 labs	12b16e8fc9
2:58459232 FANCL G>A	2	58459232	58459232	G	A	FANCL	c.112C>T	NM_001114636.1	NP_001108108.1:p.(Leu38Phe)	NC_000002.11:g.58459232G>A	(Likely) benign	2 labs	12f22669a3
7:91726391 AKAP9 C>A	7	91726391	91726391	C	A	AKAP9	c.10118C>A	NM_005751.5	NP_005742.4:p.(Ser3373Tyr)	NC_000007.13:g.91726391C>A	(Likely) benign	5 labs	12f7652f38
7:138591808 KIAA1549 C>T	7	138591808	138591808	C	T	KIAA1549	c.3317G>A	NM_001164665.2	NP_001158137.1:p.(Arg1106Gln)	NC_000007.13:g.138591808C>T	VUS	2 labs	1308a95c0b
9:97912307 FANCC T>A	9	97912307	97912307	T	A	FANCC	c.584A>T	NM_000136.3	NP_000127.2:p.(Asp195Val)	NC_000009.11:g.97912307T>A	(Likely) benign	4 labs	136ccdb175
5:177036001 B4GALT7 G>A	5	177036001	177036001	G	A	B4GALT7	c.814G>A	NM_007255.3	NP_009186.1:p.(Ala272Thr)	NC_000005.9:g.177036001G>A	(Likely) benign	3 labs	13c22777b7
9:101894898 TGFBR1 C>T	9	101894898	101894898	C	T	TGFBR1	c.451C>T	NM_004612.4	NP_004603.1:p.(Arg151Cys)	NC_000009.11:g.101894898C>T	VUS	3 labs	13d17abfc4
13:32906565 BRCA2 C>CA	13	32906565	32906571	C	CA	BRCA2	c.956dup	NM_000059.4	NP_000050.3:p.(Asn319LysfsTer8)	NC_000013.10:g.32906571dup	(Likely) pathogenic	2 labs	13dff54785
13:103524687 ERCC5 G>A	13	103524687	103524687	G	A	ERCC5	c.2818G>A	NM_000123.4	NP_000114.3:p.(Val940Met)	NC_000013.10:g.103524687G>A	VUS	2 labs	13f2af6684
5:37186443 CPLANE1 A>G	5	37186443	37186443	A	G	CPLANE1	c.4134T>C	NM_023073.4	NP_075561.3:p.(Pro1378=)	NC_000005.9:g.37186443A>G	(Likely) benign	3 labs	1404e3da8a
11:112101357 PTS T>C	11	112101357	112101357	T	C	PTS	c.195T>C	NM_000317.3	NP_000308.1:p.(Pro65=)	NC_000011.9:g.112101357T>C	(Likely) benign	2 labs	1405d00130
12:56090761 ITGA7 G>C	12	56090761	56090761	G	C	ITGA7	c.1671C>G	NM_001144996.2	NP_001138468.1:p.(Pro557=)	NC_000012.11:g.56090761G>C	(Likely) benign	2 labs	141070d1ae
4:15560843 CC2D2A A>G	4	15560843	15560843	A	G	CC2D2A	c.2885A>G	NM_001080522.2	NP_001073991.2:p.(Asp962Gly)	NC_000004.11:g.15560843A>G	VUS	3 labs	1437eaff49
15:73020272 BBS4 A>G	15	73020272	73020272	A	G	BBS4	c.588-9A>G	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73020272A>G	(Likely) benign	2 labs	1438b16726
12:2690927 CACNA1C C>T	12	2690927	2690927	C	T	CACNA1C	c.2067C>T	NM_199460.4	NP_955630.3:p.(Phe689=)	NC_000012.11:g.2690927C>T	(Likely) benign	2 labs	143959993b
17:42429430 GRN G>A	17	42429430	42429430	G	A	GRN	c.1227G>A	NM_002087.4	NP_002078.1:p.(Thr409=)	NC_000017.10:g.42429430G>A	(Likely) benign	2 labs	143e4ac529
17:36499046 GPR179 G>A	17	36499046	36499046	G	A	GPR179	c.627C>T	NM_001004334.4	NP_001004334.3:p.(Leu209=)	NC_000017.10:g.36499046G>A	(Likely) benign	2 labs	1473227285
16:1642339 IFT140 G>A	16	1642339	1642339	G	A	IFT140	c.492-20C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1642339G>A	(Likely) benign	2 labs	1488138530
16:88782777 PIEZO1 G>A	16	88782777	88782777	G	A	PIEZO1	c.7041C>T	NM_001142864.4	NP_001136336.2:p.(Asp2347=)	NC_000016.9:g.88782777G>A	(Likely) benign	2 labs	149d5c2bd5
X:53631678 HUWE1 G>T	X	53631678	53631678	G	T	HUWE1	c.2614C>A	NM_031407.7	NP_113584.3:p.(Arg872=)	NC_000023.10:g.53631678G>T	(Likely) benign	3 labs	14a8930789
12:76741493 BBS10 C>CA	12	76741493	76741496	C	CA	BBS10	c.271dup	NM_024685.4	NP_078961.3:p.(Cys91LeufsTer5)	NC_000012.11:g.76741496dup	(Likely) pathogenic	5 labs	14b4dfc27e
1:12071540 MFN2 C>A	1	12071540	12071540	C	A	MFN2	c.2205-13C>A	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12071540C>A	(Likely) benign	2 labs	14e5b602b6
15:34543180 SLC12A6 C>G	15	34543180	34543180	C	G	SLC12A6	c.1412G>C	NM_133647.2	NP_598408.1:p.(Ser471Thr)	NC_000015.9:g.34543180C>G	(Likely) benign	3 labs	14f8460193
13:32929224 BRCA2 A>AG	13	32929224	32929225	A	AG	BRCA2	c.7234_7235insG	NM_000059.4	NP_000050.3:p.(Thr2412SerfsTer2)	NC_000013.10:g.32929224_32929225insG	(Likely) pathogenic	4 labs	154fd692ba
1:103388907 COL11A1 C>T	1	103388907	103388907	C	T	COL11A1	c.3675G>A	NM_080629.3	NP_542196.2:p.(Gly1225=)	NC_000001.10:g.103388907C>T	(Likely) benign	2 labs	156255aa5f
7:66459145 SBDS A>C	7	66459145	66459145	A	C	SBDS	c.258+54T>G	NM_016038.4	NP_057122.2:p.?	NC_000007.13:g.66459145A>C	(Likely) benign	2 labs	158295d169
6:66005740 EYS G>GA	6	66005740	66005750	G	GA	EYS	c.2023+15dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.66005750dup	(Likely) benign	2 labs	1582917c76
7:6026864 PMS2 G>A	7	6026864	6026864	G	A	PMS2	c.1532C>T	NM_000535.7	NP_000526.2:p.(Thr511Met)	NC_000007.13:g.6026864G>A	(Likely) benign	4 labs	159c8ebe51
2:202494585 TMEM237 C>T	2	202494585	202494585	C	T	TMEM237	c.530-10G>A	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202494585C>T	(Likely) benign	2 labs	15b6c5db94
20:57466761 GNAS CCCGCCG>C	20	57466761	57466781	CCCGCCG	C	GNAS	c.-6_-1del	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466776_57466781del	(Likely) benign	2 labs	1626104d92
20:10632876 JAG1 A>G	20	10632876	10632876	A	G	JAG1	c.909T>C	NM_000214.3	NP_000205.1:p.(His303=)	NC_000020.10:g.10632876A>G	(Likely) benign	3 labs	164145edca
21:47421315 COL6A1 C>T	21	47421315	47421315	C	T	COL6A1	c.1956+15C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421315C>T	(Likely) benign	2 labs	1645e9af7b
18:29116199 DSG2 T>C	18	29116199	29116199	T	C	DSG2	c.1458T>C	NM_001943.5	NP_001934.2:p.(Leu486=)	NC_000018.9:g.29116199T>C	(Likely) benign	2 labs	164a70207d
2:98128143 ANKRD36B T>C	2	98128143	98128143	T	C	ANKRD36B	c.3178A>G	NM_025190.4	NP_079466.3:p.(Lys1060Glu)	NC_000002.11:g.98128143T>C	(Likely) benign	2 labs	16519bfd54
17:68172326 KCNJ2 C>T	17	68172326	68172326	C	T	KCNJ2	c.1146C>T	NM_000891.3	NP_000882.1:p.(Leu382=)	NC_000017.10:g.68172326C>T	(Likely) benign	3 labs	16ba217d06
2:202503704 TMEM237 C>T	2	202503704	202503704	C	T	TMEM237	c.112+8G>A	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202503704C>T	(Likely) benign	3 labs	16c93dc16d
2:179558732 TTN G>GTAA	2	179558732	179558733	G	GTAA	TTN	c.31429_31430insTTA	NM_001267550.2	NP_001254479.2:p.(Pro10477delinsLeuThr)	NC_000002.11:g.179558732_179558733insTAA	VUS	2 labs	16b7cf509e
15:89816703 FANCI A>AT	15	89816703	89816710	A	AT	FANCI	c.975+10dup	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89816710dup	(Likely) benign	2 labs	16cd77b5cb
X:13762658 OFD1 T>C	X	13762658	13762658	T	C	OFD1	c.517+20T>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13762658T>C	(Likely) benign	2 labs	16e9daefaf
2:145156613 ZEB2 G>A	2	145156613	145156613	G	A	ZEB2	c.2141C>T	NM_014795.4	NP_055610.1:p.(Pro714Leu)	NC_000002.11:g.145156613G>A	(Likely) benign	4 labs	170232ddcc
12:110224603 TRPV4 C>T	12	110224603	110224603	C	T	TRPV4	c.2248G>A	NM_021625.5	NP_067638.3:p.(Val750Ile)	NC_000012.11:g.110224603C>T	(Likely) benign	3 labs	170273b434
1:218520157 TGFB2 G>A	1	218520157	218520157	G	A	TGFB2	c.114G>A	NM_001135599.4	NP_001129071.1:p.(Glu38=)	NC_000001.10:g.218520157G>A	(Likely) benign	2 labs	1728d81fda
22:32239092 DEPDC5 C>T	22	32239092	32239092	C	T	DEPDC5	c.2527C>T	NM_001242896.3	NP_001229825.1:p.(Arg843Ter)	NC_000022.10:g.32239092C>T	(Likely) pathogenic	2 labs	1729acdaa7
20:10653631 JAG1 G>A	20	10653631	10653631	G	A	JAG1	c.105C>T	NM_000214.3	NP_000205.1:p.(Phe35=)	NC_000020.10:g.10653631G>A	(Likely) benign	2 labs	172d87a3d6
22:29090106 CHEK2 C>G	22	29090106	29090106	C	G	CHEK2	c.1376-1G>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29090106C>G	(Likely) pathogenic	2 labs	173f632043
11:17542491 USH1C C>T	11	17542491	17542491	C	T	USH1C	c.1136G>A	NM_153676.4	NP_710142.1:p.(Gly379Asp)	NC_000011.9:g.17542491C>T	VUS	2 labs	1740618439
2:44102567 ABCG8 C>T	2	44102567	44102567	C	T	ABCG8	c.1756+15C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102567C>T	(Likely) benign	2 labs	175c6f132d
10:61905727 ANK3 T>C	10	61905727	61905727	T	C	ANK3	c.2616A>G	NM_001204404.2	NP_001191333.1:p.(Lys872=)	NC_000010.10:g.61905727T>C	(Likely) benign	2 labs	175f62cd7c
2:179596197 TTN CT>C	2	179596197	179596201	CT	C	TTN	c.17295del	NM_001267550.2	NP_001254479.2:p.(Asp5766ThrfsTer11)	NC_000002.11:g.179596201del	VUS	2 labs	1781340759
1:94481294 ABCA4 C>T	1	94481294	94481294	C	T	ABCA4	c.5312+1G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94481294C>T	(Likely) pathogenic	2 labs	1782826c28
2:74593928 DCTN1 T>C	2	74593928	74593928	T	C	DCTN1	c.2448A>G	NM_004082.5	NP_004073.2:p.(Ala816=)	NC_000002.11:g.74593928T>C	(Likely) benign	2 labs	17915f03da
1:26387783 TRIM63 G>A	1	26387783	26387783	G	A	TRIM63	c.375C>T	NM_032588.4	NP_115977.2:p.(His125=)	NC_000001.10:g.26387783G>A	(Likely) benign	3 labs	17a4a407a8
16:68719126 CDH3 C>T	16	68719126	68719126	C	T	CDH3	c.1443C>T	NM_001793.6	NP_001784.2:p.(Asp481=)	NC_000016.9:g.68719126C>T	(Likely) benign	2 labs	17aa842b99
1:215853640 USH2A C>T	1	215853640	215853640	C	T	USH2A	c.12145G>A	NM_206933.4	NP_996816.3:p.(Ala4049Thr)	NC_000001.10:g.215853640C>T	VUS	2 labs	17b92eba5a
15:66679684 MAP2K1 A>G	15	66679684	66679684	A	G	MAP2K1	c.-2A>G	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66679684A>G	(Likely) benign	2 labs	17d9fcf4c0
13:32914549 BRCA2 C>T	13	32914549	32914549	C	T	BRCA2	c.6057C>T	NM_000059.4	NP_000050.3:p.(Asn2019=)	NC_000013.10:g.32914549C>T	(Likely) benign	5 labs	18238cc77f
17:41243843 BRCA1 GTTTAC>G	17	41243843	41243853	GTTTAC	G	BRCA1	c.3700_3704del	NM_007294.4	NP_009225.1:p.(Val1234GlnfsTer8)	NC_000017.10:g.41243849_41243853del	(Likely) pathogenic	3 labs	18262e832e
2:179414512 TTN T>C	2	179414512	179414512	T	C	TTN	c.91937A>G	NM_001267550.2	NP_001254479.2:p.(Asn30646Ser)	NC_000002.11:g.179414512T>C	(Likely) benign	3 labs	18299780ad
13:96361560 DNAJC3 T>G	13	96361560	96361560	T	G	DNAJC3	c.162T>G	NM_006260.5	NP_006251.1:p.(Ala54=)	NC_000013.10:g.96361560T>G	(Likely) benign	2 labs	182ce49dab
14:88904178 SPATA7 C>T	14	88904178	88904178	C	T	SPATA7	c.1216-4C>T	NM_018418.5	NP_060888.2:p.?	NC_000014.8:g.88904178C>T	(Likely) benign	2 labs	1830a4726b
20:32005671 SNTA1 G>A	20	32005671	32005671	G	A	SNTA1	c.555C>T	NM_003098.3	NP_003089.1:p.(Val185=)	NC_000020.10:g.32005671G>A	(Likely) benign	2 labs	183ef043ee
7:128490885 FLNC G>C	7	128490885	128490885	G	C	FLNC	c.5427G>C	NM_001458.5	NP_001449.3:p.(Thr1809=)	NC_000007.13:g.128490885G>C	(Likely) benign	2 labs	186137b5fd
19:10291113 DNMT1 C>G	19	10291113	10291113	C	G	DNMT1	c.358G>C	NM_001130823.3	NP_001124295.1:p.(Val120Leu)	NC_000019.9:g.10291113C>G	(Likely) benign	2 labs	1874fa043e
18:29121240 DSG2 A>T	18	29121240	29121240	A	T	DSG2	c.1964A>T	NM_001943.5	NP_001934.2:p.(His655Leu)	NC_000018.9:g.29121240A>T	VUS	2 labs	18796f26db
14:23886855 MYH7 C>T	14	23886855	23886855	C	T	MYH7	c.4210G>A	NM_000257.4	NP_000248.2:p.(Val1404Met)	NC_000014.8:g.23886855C>T	VUS	4 labs	188d85faa0
11:123508895 SCN3B C>T	11	123508895	123508895	C	T	SCN3B	c.583G>A	NM_018400.4	NP_060870.1:p.(Ala195Thr)	NC_000011.9:g.123508895C>T	VUS	3 labs	189f0ebf32
19:35524543 SCN1B G>A	19	35524543	35524543	G	A	SCN1B	c.348G>A	NM_001037.5	NP_001028.1:p.(Ser116=)	NC_000019.9:g.35524543G>A	(Likely) benign	2 labs	18a2ca3039
X:47426318 ARAF C>A	X	47426318	47426318	C	A	ARAF	c.727+8C>A	NM_001654.5	NP_001645.1:p.?	NC_000023.10:g.47426318C>A	(Likely) benign	2 labs	18b9c50a44
3:38766760 SCN10A G>T	3	38766760	38766760	G	T	SCN10A	c.3133C>A	NM_006514.4	NP_006505.4:p.(Pro1045Thr)	NC_000003.11:g.38766760G>T	(Likely) benign	2 labs	18ff12bb38
7:128480090 FLNC C>T	7	128480090	128480090	C	T	FLNC	c.1425C>T	NM_001458.5	NP_001449.3:p.(Asn475=)	NC_000007.13:g.128480090C>T	(Likely) benign	4 labs	1906c6cb0a
17:59886044 BRIP1 C>T	17	59886044	59886044	C	T	BRIP1	c.702G>A	NM_032043.3	NP_114432.2:p.(Lys234=)	NC_000017.10:g.59886044C>T	(Likely) benign	2 labs	191d55af8a
16:50745143 NOD2 G>A	16	50745143	50745143	G	A	NOD2	c.1321G>A	NM_022162.3	NP_071445.1:p.(Glu441Lys)	NC_000016.9:g.50745143G>A	VUS	2 labs	193cfcb84c
6:56391241 DST T>C	6	56391241	56391241	T	C	DST	c.11690A>G	NM_001144769.5	NP_001138241.1:p.(Asp3897Gly)	NC_000006.11:g.56391241T>C	VUS	2 labs	1942e8f57e
20:42788430 JPH2 C>T	20	42788430	42788430	C	T	JPH2	c.997G>A	NM_020433.5	NP_065166.2:p.(Asp333Asn)	NC_000020.10:g.42788430C>T	VUS	2 labs	1950a70041
2:179440299 TTN T>C	2	179440299	179440299	T	C	TTN	c.70560A>G	NM_001267550.2	NP_001254479.2:p.(Pro23520=)	NC_000002.11:g.179440299T>C	(Likely) benign	3 labs	195a3dc189
X:130415926 IGSF1 C>G	X	130415926	130415926	C	G	IGSF1	c.1247-8G>C	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130415926C>G	(Likely) benign	2 labs	196466f0e9
3:129158646 MBD4 G>A	3	129158646	129158646	G	A	MBD4	c.31C>T	NM_003925.3	NP_003916.1:p.(Leu11=)	NC_000003.11:g.129158646G>A	(Likely) benign	2 labs	196902fac7
20:32000483 SNTA1 A>G	20	32000483	32000483	A	G	SNTA1	c.807T>C	NM_003098.3	NP_003089.1:p.(Asn269=)	NC_000020.10:g.32000483A>G	(Likely) benign	2 labs	197aee28f4
7:92119237 PEX1 ATT>A	7	92119237	92119239	ATT	A	PEX1	c.2815-14_2815-13del	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92119238_92119239del	(Likely) benign	2 labs	1986e628c1
2:179429294 TTN G>C	2	179429294	179429294	G	C	TTN	c.81565C>G	NM_001267550.2	NP_001254479.2:p.(Leu27189Val)	NC_000002.11:g.179429294G>C	VUS	2 labs	19996ba3c8
1:237819218 RYR2 T>A	1	237819218	237819218	T	A	RYR2	c.8063T>A	NM_001035.3	NP_001026.2:p.(Met2688Lys)	NC_000001.10:g.237819218T>A	VUS	4 labs	19a6012f13
2:179650329 TTN T>C	2	179650329	179650329	T	C	TTN	c.2493+18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179650329T>C	(Likely) benign	2 labs	19b9d71d16
2:179587901 TTN A>T	2	179587901	179587901	A	T	TTN	c.21833T>A	NM_001267550.2	NP_001254479.2:p.(Ile7278Lys)	NC_000002.11:g.179587901A>T	VUS	2 labs	19b9f3f56d
1:19566408 EMC1 A>C	1	19566408	19566408	A	C	EMC1	c.858T>G	NM_015047.3	NP_055862.1:p.(Ala286=)	NC_000001.10:g.19566408A>C	(Likely) benign	2 labs	19caa40ec6
9:136421044 ADAMTSL2 C>T	9	136421044	136421044	C	T	ADAMTSL2	c.1641C>T	NM_001145320.2	NP_001138792.1:p.(His547=)	NC_000009.11:g.136421044C>T	(Likely) benign	3 labs	19d2127504
18:58038977 MC4R G>T	18	58038977	58038977	G	T	MC4R	c.606C>A	NM_005912.3	NP_005903.2:p.(Phe202Leu)	NC_000018.9:g.58038977G>T	(Likely) benign	3 labs	19d29b4795
3:30686267 TGFBR2 C>T	3	30686267	30686267	C	T	TGFBR2	c.198C>T	NM_001024847.2	NP_001020018.1:p.(Asn66=)	NC_000003.11:g.30686267C>T	(Likely) benign	2 labs	19f056f1fd
7:107329489 SLC26A4 A>C	7	107329489	107329489	A	C	SLC26A4	c.1002-9A>C	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107329489A>C	(Likely) benign	2 labs	1a0703ff85
1:74737379 TNNI3K C>T	1	74737379	74737379	C	T	TNNI3K	c.431C>T	NM_015978.3	NP_057062.1:p.(Ala144Val)	NC_000001.10:g.74737379C>T	VUS	2 labs	1a133c3073
2:220333340 SPEG G>T	2	220333340	220333340	G	T	SPEG	c.3183G>T	NM_005876.5	NP_005867.3:p.(Ser1061=)	NC_000002.11:g.220333340G>T	(Likely) benign	2 labs	1a2b116107
9:111688842 ELP1 T>C	9	111688842	111688842	T	C	ELP1	c.427A>G	NM_003640.5	NP_003631.2:p.(Ile143Val)	NC_000009.11:g.111688842T>C	VUS	2 labs	1a3a18f780
15:63356335 TPM1 C>G	15	63356335	63356335	C	G	TPM1	c.737C>G	NM_001365781.2	NP_001352710.1:p.(Thr246Ser)	NC_000015.9:g.63356335C>G	(Likely) benign	3 labs	1a6b37ed41
6:32018046 TNXB C>T	6	32018046	32018046	C	T	TNXB	c.9162G>A	NM_019105.8	NP_061978.6:p.(Glu3054=)	NC_000006.11:g.32018046C>T	(Likely) benign	2 labs	1a77c1db61
1:237666821 RYR2 C>T	1	237666821	237666821	C	T	RYR2	c.2613+16C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237666821C>T	(Likely) benign	2 labs	1a84f91a41
17:6328971 AIPL1 G>A	17	6328971	6328971	G	A	AIPL1	c.964C>T	NM_014336.5	NP_055151.3:p.(Arg322Cys)	NC_000017.10:g.6328971G>A	VUS	2 labs	1ac1b8c3ea
17:41223118 BRCA1 A>G	17	41223118	41223118	A	G	BRCA1	c.4813T>C	NM_007294.4	NP_009225.1:p.(Leu1605=)	NC_000017.10:g.41223118A>G	(Likely) benign	4 labs	1ad06e1276
15:90174824 KIF7 C>T	15	90174824	90174824	C	T	KIF7	c.3013G>A	NM_198525.3	NP_940927.2:p.(Gly1005Arg)	NC_000015.9:g.90174824C>T	(Likely) benign	5 labs	1aded97d58
6:152652052 SYNE1 T>C	6	152652052	152652052	T	C	SYNE1	c.13768A>G	NM_182961.4	NP_892006.3:p.(Asn4590Asp)	NC_000006.11:g.152652052T>C	VUS	2 labs	1af0cbe66c
17:76117124 TMC6 G>A	17	76117124	76117124	G	A	TMC6	c.1505C>T	NM_007267.7	NP_009198.4:p.(Pro502Leu)	NC_000017.10:g.76117124G>A	(Likely) benign	2 labs	1b0d8e55e5
2:179477690 TTN A>G	2	179477690	179477690	A	G	TTN	c.49758T>C	NM_001267550.2	NP_001254479.2:p.(Tyr16586=)	NC_000002.11:g.179477690A>G	(Likely) benign	2 labs	1b8269548f
14:102516531 DYNC1H1 G>T	14	102516531	102516531	G	T	DYNC1H1	c.13808G>T	NM_001376.5	NP_001367.2:p.(Ser4603Ile)	NC_000014.8:g.102516531G>T	(Likely) benign	3 labs	1b837ba1c9
1:3102753 PRDM16 G>A	1	3102753	3102753	G	A	PRDM16	c.102G>A	NM_022114.4	NP_071397.3:p.(Ala34=)	NC_000001.10:g.3102753G>A	(Likely) benign	2 labs	1b9a634b57
18:58039343 MC4R G>T	18	58039343	58039343	G	T	MC4R	c.240C>A	NM_005912.3	NP_005903.2:p.(Tyr80Ter)	NC_000018.9:g.58039343G>T	(Likely) pathogenic	2 labs	1bc907b390
2:179616394 TTN T>C	2	179616394	179616394	T	C	TTN	c.10733A>G	NM_133379.5	NP_596870.2:p.(Tyr3578Cys)	NC_000002.11:g.179616394T>C	(Likely) benign	2 labs	1bf2267b81
1:11184593 MTOR A>G	1	11184593	11184593	A	G	MTOR	c.6624T>C	NM_004958.4	NP_004949.1:p.(Leu2208=)	NC_000001.10:g.11184593A>G	(Likely) benign	3 labs	1c28f34542
4:123664256 BBS12 G>A	4	123664256	123664256	G	A	BBS12	c.1209G>A	NM_001178007.2	NP_001171478.1:p.(Val403=)	NC_000004.11:g.123664256G>A	(Likely) benign	3 labs	1c3c1745b4
19:7604786 PNPLA6 C>T	19	7604786	7604786	C	T	PNPLA6	c.441-18C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7604786C>T	(Likely) benign	2 labs	1c51e9e7b9
7:81765996 CACNA2D1 C>CA	7	81765996	81766006	C	CA	CACNA2D1	c.355-5dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81766006dup	(Likely) benign	2 labs	1c824d4dea
19:7615304 PNPLA6 C>G	19	7615304	7615304	C	G	PNPLA6	c.1962C>G	NM_001166111.2	NP_001159583.1:p.(Arg654=)	NC_000019.9:g.7615304C>G	(Likely) benign	2 labs	1cc9ca7e81
13:32912986 BRCA2 T>A	13	32912986	32912986	T	A	BRCA2	c.4494T>A	NM_000059.4	NP_000050.3:p.(Gly1498=)	NC_000013.10:g.32912986T>A	(Likely) benign	5 labs	1cd5a6fe94
2:97851082 ANKRD36 GTAAT>G	2	97851082	97851089	GTAAT	G	ANKRD36	c.1968+5_1968+8del	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97851086_97851089del	(Likely) benign	2 labs	1ce7d20530
9:117228577 WHRN T>G	9	117228577	117228577	T	G	WHRN	c.933A>C	NM_001173425.2	NP_001166896.1:p.(Pro311=)	NC_000009.11:g.117228577T>G	(Likely) benign	2 labs	1cee2c2c85
2:219678830 CYP27A1 G>A	2	219678830	219678830	G	A	CYP27A1	c.1104G>A	NM_000784.4	NP_000775.1:p.(Val368=)	NC_000002.11:g.219678830G>A	(Likely) benign	2 labs	1cf1ab043a
8:1876804 ARHGEF10 C>T	8	1876804	1876804	C	T	ARHGEF10	c.2981C>T	NM_001308153.2	NP_001295082.1:p.(Thr994Met)	NC_000008.10:g.1876804C>T	(Likely) benign	2 labs	1cfccc4317
17:79496076 FSCN2 C>T	17	79496076	79496076	C	T	FSCN2	c.519C>T	NM_001077182.3	NP_001070650.1:p.(Ala173=)	NC_000017.10:g.79496076C>T	(Likely) benign	2 labs	1cff75b2bf
15:85366575 ALPK3 G>A	15	85366575	85366575	G	A	ALPK3	c.158G>A	NM_020778.5	NP_065829.4:p.(Arg53Gln)	NC_000015.9:g.85366575G>A	(Likely) benign	4 labs	1d38f8ab64
1:40768344 COL9A2 C>T	1	40768344	40768344	C	T	COL9A2	c.1741G>A	NM_001852.4	NP_001843.1:p.(Val581Ile)	NC_000001.10:g.40768344C>T	(Likely) benign	3 labs	1d3c8e00fb
6:66045049 EYS C>T	6	66045049	66045049	C	T	EYS	c.1600-10G>A	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.66045049C>T	(Likely) benign	2 labs	1d75a9197f
15:91310214 BLM A>G	15	91310214	91310214	A	G	BLM	c.2268A>G	NM_000057.4	NP_000048.1:p.(Lys756=)	NC_000015.9:g.91310214A>G	(Likely) benign	3 labs	1d80fa4d56
4:3502033 DOK7 G>A	4	3502033	3502033	G	A	DOK7	c.1596G>A	NM_001301071.2	NP_001288000.1:p.(Glu532=)	NC_000004.11:g.3502033G>A	(Likely) benign	2 labs	1da6363c1c
2:179647602 TTN C>T	2	179647602	179647602	C	T	TTN	c.3031G>A	NM_001267550.2	NP_001254479.2:p.(Gly1011Arg)	NC_000002.11:g.179647602C>T	VUS	3 labs	1da714760d
12:110236613 TRPV4 G>A	12	110236613	110236613	G	A	TRPV4	c.958C>T	NM_021625.5	NP_067638.3:p.(Arg320Ter)	NC_000012.11:g.110236613G>A	VUS	3 labs	1da8c11655
8:100454831 VPS13B C>T	8	100454831	100454831	C	T	VPS13B	c.3413C>T	NM_017890.5	NP_060360.3:p.(Pro1138Leu)	NC_000008.10:g.100454831C>T	(Likely) benign	2 labs	1db0fd3fcb
7:81641570 CACNA2D1 G>GAA	7	81641570	81641583	G	GAA	CACNA2D1	c.1273-13_1273-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641582_81641583dup	(Likely) benign	2 labs	1dd1305a1b
15:73015172 BBS4 T>A	15	73015172	73015172	T	A	BBS4	c.443T>A	NM_033028.5	NP_149017.2:p.(Leu148Gln)	NC_000015.9:g.73015172T>A	VUS	2 labs	1dd4753068
21:45751891 CFAP410 G>A	21	45751891	45751891	G	A	CFAP410	c.380C>T	NM_001271441.2	NP_001258370.1:p.(Thr127Met)	NC_000021.8:g.45751891G>A	VUS	2 labs	1de62be90d
2:179518992 TTN G>A	2	179518992	179518992	G	A	TTN	c.38323C>T	NM_001267550.2	NP_001254479.2:p.(Leu12775Phe)	NC_000002.11:g.179518992G>A	(Likely) benign	4 labs	1e017cfdcd
1:201331028 TNNT2 T>G	1	201331028	201331028	T	G	TNNT2	c.689+13A>C	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331028T>G	(Likely) benign	2 labs	1e01c30618
4:6296909 WFS1 G>A	4	6296909	6296909	G	A	WFS1	c.854G>A	NM_006005.3	NP_005996.2:p.(Arg285His)	NC_000004.11:g.6296909G>A	(Likely) benign	2 labs	1e07e242bf
16:31202739 FUS C>T	16	31202739	31202739	C	T	FUS	c.1561C>T	NM_004960.4	NP_004951.1:p.(Arg521Cys)	NC_000016.9:g.31202739C>T	(Likely) pathogenic	3 labs	1e099e3d0e
22:29885412 NEFH C>T	22	29885412	29885412	C	T	NEFH	c.1783C>T	NM_021076.4	NP_066554.2:p.(Pro595Ser)	NC_000022.10:g.29885412C>T	(Likely) benign	2 labs	1e189bc9c4
13:32913702 BRCA2 ATACT>A	13	32913702	32913708	ATACT	A	BRCA2	c.5213_5216del	NM_000059.4	NP_000050.3:p.(Thr1738IlefsTer2)	NC_000013.10:g.32913705_32913708del	(Likely) pathogenic	4 labs	1e27b80cdd
5:1432825 SLC6A3 G>T	5	1432825	1432825	G	T	SLC6A3	c.419-12C>A	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1432825G>T	(Likely) benign	2 labs	1e704dd42f
14:64676751 SYNE2 C>T	14	64676751	64676751	C	T	SYNE2	c.18632C>T	NM_182914.3	NP_878918.2:p.(Thr6211Met)	NC_000014.8:g.64676751C>T	(Likely) benign	2 labs	1e7e7d7c68
2:48033791 MSH6 GTAAC>G	2	48033791	48033805	GTAAC	G	MSH6	c.4001+12_4001+15del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033802_48033805del	(Likely) benign	4 labs	1e9b0ba0db
2:179434470 TTN TTTA>T	2	179434470	179434476	TTTA	T	TTN	c.76386_76388del	NM_001267550.2	NP_001254479.2:p.(Asn25462del)	NC_000002.11:g.179434474_179434476del	VUS	2 labs	1e9dccb5c5
8:61766022 CHD7 G>A	8	61766022	61766022	G	A	CHD7	c.6738G>A	NM_017780.4	NP_060250.2:p.(Glu2246=)	NC_000008.10:g.61766022G>A	(Likely) benign	3 labs	1ee017aea9
17:41244056 BRCA1 ACTAGTATCTTC>A	17	41244056	41244069	ACTAGTATCTTC	A	BRCA1	c.3481_3491del	NM_007294.4	NP_009225.1:p.(Glu1161PhefsTer3)	NC_000017.10:g.41244059_41244069del	(Likely) pathogenic	2 labs	1f03aaff44
12:33049652 PKP2 C>T	12	33049652	33049652	C	T	PKP2	c.14G>A	NM_004572.4	NP_004563.2:p.(Gly5Asp)	NC_000012.11:g.33049652C>T	VUS	2 labs	1f13a6257c
7:150654468 KCNH2 G>A	7	150654468	150654468	G	A	KCNH2	c.1039C>T	NM_000238.4	NP_000229.1:p.(Pro347Ser)	NC_000007.13:g.150654468G>A	(Likely) benign	3 labs	1f321885fd
1:237777828 RYR2 A>G	1	237777828	237777828	A	G	RYR2	c.5400A>G	NM_001035.3	NP_001026.2:p.(Lys1800=)	NC_000001.10:g.237777828A>G	(Likely) benign	2 labs	1f64e19db1
9:137701127 COL5A1 C>T	9	137701127	137701127	C	T	COL5A1	c.3465C>T	NM_000093.5	NP_000084.3:p.(Asp1155=)	NC_000009.11:g.137701127C>T	(Likely) benign	2 labs	1f703f7b55
7:150656690 KCNH2 G>A	7	150656690	150656690	G	A	KCNH2	c.442C>T	NM_000238.4	NP_000229.1:p.(Arg148Trp)	NC_000007.13:g.150656690G>A	(Likely) benign	4 labs	1f77fbd096
X:13778639 OFD1 C>T	X	13778639	13778639	C	T	OFD1	c.1640C>T	NM_001330210.2	NP_001317139.1:p.(Pro547Leu)	NC_000023.10:g.13778639C>T	(Likely) benign	2 labs	1f780a3682
2:163128887 IFIH1 C>T	2	163128887	163128887	C	T	IFIH1	c.2465G>A	NM_022168.4	NP_071451.2:p.(Arg822Gln)	NC_000002.11:g.163128887C>T	(Likely) pathogenic	2 labs	1f781f61bc
14:23897029 MYH7 C>G	14	23897029	23897029	C	G	MYH7	c.1653G>C	NM_000257.4	NP_000248.2:p.(Lys551Asn)	NC_000014.8:g.23897029C>G	VUS	2 labs	1fb5fb434a
X:14875962 FANCB AAAG>A	X	14875962	14875968	AAAG	A	FANCB	c.1197+19_1197+21del	NM_001018113.3	NP_001018123.1:p.?	NC_000023.10:g.14875966_14875968del	(Likely) benign	2 labs	1fdb8dfc36
14:23874513 MYH6 C>T	14	23874513	23874513	C	T	MYH6	c.421G>A	NM_002471.4	NP_002462.2:p.(Ala141Thr)	NC_000014.8:g.23874513C>T	VUS	2 labs	1ff196b7a2
10:18828669 CACNB2 GTT>G	10	18828669	18828688	GTT	G	CACNB2	c.*34_*35del	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828687_18828688del	(Likely) benign	2 labs	1ff7c3b84a
17:62018424 SCN4A G>A	17	62018424	62018424	G	A	SCN4A	c.5218C>T	NM_000334.4	NP_000325.4:p.(Arg1740Trp)	NC_000017.10:g.62018424G>A	VUS	2 labs	2011591f15
3:38783774 SCN10A G>A	3	38783774	38783774	G	A	SCN10A	c.2106+8C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38783774G>A	(Likely) benign	2 labs	202c4f7c56
17:36493522 GPR179 AG>A	17	36493522	36493526	AG	A	GPR179	c.984del	NM_001004334.4	NP_001004334.3:p.(Ser329LeufsTer4)	NC_000017.10:g.36493526del	(Likely) pathogenic	2 labs	204c988e41
15:73616253 HCN4 G>A	15	73616253	73616253	G	A	HCN4	c.2181C>T	NM_005477.3	NP_005468.1:p.(His727=)	NC_000015.9:g.73616253G>A	(Likely) benign	3 labs	209446027d
5:32710867 NPR3 G>A	5	32710867	32710867	G	A	NPR3	c.99G>A	NM_001204376.2	NP_001191305.1:p.(Arg33=)	NC_000005.9:g.32710867G>A	(Likely) benign	2 labs	20c4ff867c
16:90001622 TUBB3 G>A	16	90001622	90001622	G	A	TUBB3	c.547G>A	NM_001197181.2	NP_001184110.1:p.(Val183Ile)	NC_000016.9:g.90001622G>A	(Likely) pathogenic	2 labs	20d7a71345
X:154005088 DKC1 CAAG>C	X	154005088	154005111	CAAG	C	DKC1	c.1512_1514del	NM_001363.5	NP_001354.1:p.(Lys505del)	NC_000023.10:g.154005109_154005111del	(Likely) benign	4 labs	20dbbb31c9
1:26386750 TRIM63 C>T	1	26386750	26386750	C	T	TRIM63	c.597+7G>A	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26386750C>T	(Likely) benign	4 labs	20e2c15fb9
7:42004666 GLI3 C>T	7	42004666	42004666	C	T	GLI3	c.4005G>A	NM_000168.6	NP_000159.3:p.(Pro1335=)	NC_000007.13:g.42004666C>T	(Likely) benign	2 labs	20e7755e12
5:178415983 GRM6 G>A	5	178415983	178415983	G	A	GRM6	c.1307C>T	NM_000843.4	NP_000834.2:p.(Thr436Ile)	NC_000005.9:g.178415983G>A	(Likely) benign	2 labs	20eb15156f
15:73616464 HCN4 G>A	15	73616464	73616464	G	A	HCN4	c.2109C>T	NM_005477.3	NP_005468.1:p.(Phe703=)	NC_000015.9:g.73616464G>A	(Likely) benign	2 labs	20ec1fc340
17:44051788 MAPT C>G	17	44051788	44051788	C	G	MAPT	c.258C>G	NM_005910.6	NP_005901.2:p.(Gly86=)	NC_000017.10:g.44051788C>G	(Likely) benign	2 labs	20ef270aa8
8:10467122 RP1L1 T>G	8	10467122	10467122	T	G	RP1L1	c.4486A>C	NM_178857.6	NP_849188.4:p.(Thr1496Pro)	NC_000008.10:g.10467122T>G	(Likely) benign	2 labs	20f395a8b0
17:7906488 GUCY2D CCTGCTT>C	17	7906488	7906499	CCTGCTT	C	GUCY2D	c.129_134del	NM_000180.4	NP_000171.1:p.(Leu44_Leu45del)	NC_000017.10:g.7906494_7906499del	VUS	3 labs	211d4701a2
8:133953740 TG A>C	8	133953740	133953740	A	C	TG	c.5186A>C	NM_003235.5	NP_003226.4:p.(Asp1729Ala)	NC_000008.10:g.133953740A>C	(Likely) benign	2 labs	214dbe9164
17:78082327 GAA A>T	17	78082327	78082327	A	T	GAA	c.1115A>T	NM_000152.5	NP_000143.2:p.(His372Leu)	NC_000017.10:g.78082327A>T	(Likely) pathogenic	3 labs	2184e61afa
12:112926908 PTPN11 C>G	12	112926908	112926908	C	G	PTPN11	c.1528C>G	NM_002834.5	NP_002825.3:p.(Gln510Glu)	NC_000012.11:g.112926908C>G	(Likely) pathogenic	2 labs	21aa38e6a8
7:92151542 PEX1 C>T	7	92151542	92151542	C	T	PEX1	c.147G>A	NM_000466.3	NP_000457.1:p.(Val49=)	NC_000007.13:g.92151542C>T	(Likely) benign	2 labs	220c46f5f9
1:94505604 ABCA4 A>C	1	94505604	94505604	A	C	ABCA4	c.3602T>G	NM_000350.3	NP_000341.2:p.(Leu1201Arg)	NC_000001.10:g.94505604A>C	(Likely) benign	2 labs	221381cc98
1:235938388 LYST TA>T	1	235938388	235938399	TA	T	LYST	c.5461-3del	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235938399del	(Likely) benign	2 labs	223bd3c647
11:124761326 ROBO4 C>T	11	124761326	124761326	C	T	ROBO4	c.1382G>A	NM_001301088.2	NP_001288017.1:p.(Arg461His)	NC_000011.9:g.124761326C>T	(Likely) benign	4 labs	22458279ee
6:107655385 PDSS2 G>A	6	107655385	107655385	G	A	PDSS2	c.431+17C>T	NM_020381.4	NP_065114.3:p.?	NC_000006.11:g.107655385G>A	(Likely) benign	2 labs	227866e1eb
2:220290404 DES G>C	2	220290404	220290404	G	C	DES	c.1308G>C	NM_001927.4	NP_001918.3:p.(Arg436Ser)	NC_000002.11:g.220290404G>C	VUS	3 labs	228f96eac1
2:179604758 TTN C>T	2	179604758	179604758	C	T	TTN	c.13202G>A	NM_001267550.2	NP_001254479.2:p.(Arg4401Gln)	NC_000002.11:g.179604758C>T	(Likely) benign	2 labs	22d575c634
2:179396750 TTN C>T	2	179396750	179396750	C	T	TTN	c.104592G>A	NM_001267550.2	NP_001254479.2:p.(Pro34864=)	NC_000002.11:g.179396750C>T	(Likely) benign	2 labs	22dc518201
4:119654036 SEC24D G>A	4	119654036	119654036	G	A	SEC24D	c.2531C>T	NM_001318066.2	NP_001304995.1:p.(Pro844Leu)	NC_000004.11:g.119654036G>A	(Likely) benign	2 labs	22e682ac43
19:50902141 POLD1 C>T	19	50902141	50902141	C	T	POLD1	c.33C>T	NM_001256849.1	NP_001243778.1:p.(Pro11=)	NC_000019.9:g.50902141C>T	(Likely) benign	2 labs	22f46d0485
2:210810599 UNC80 A>G	2	210810599	210810599	A	G	UNC80	c.7218A>G	NM_001371986.1	NP_001358915.1:p.(Thr2406=)	NC_000002.11:g.210810599A>G	(Likely) benign	2 labs	22f915d486
2:167138296 SCN9A T>C	2	167138296	167138296	T	C	SCN9A	c.1964A>G	NM_002977.3	NP_002968.1:p.(Lys655Arg)	NC_000002.11:g.167138296T>C	(Likely) benign	4 labs	22fcbf8b78
6:118880200 PLN T>G	6	118880200	118880200	T	G	PLN	c.116T>G	NM_002667.5	NP_002658.1:p.(Leu39Ter)	NC_000006.11:g.118880200T>G	(Likely) pathogenic	2 labs	230ea4ddd8
3:178916876 PIK3CA G>A	3	178916876	178916876	G	A	PIK3CA	c.263G>A	NM_006218.4	NP_006209.2:p.(Arg88Gln)	NC_000003.11:g.178916876G>A	(Likely) pathogenic	3 labs	234b2ffbc5
20:42744644 JPH2 C>T	20	42744644	42744644	C	T	JPH2	c.1671G>A	NM_020433.5	NP_065166.2:p.(Glu557=)	NC_000020.10:g.42744644C>T	(Likely) benign	2 labs	238fd95db0
17:17697800 RAI1 A>G	17	17697800	17697800	A	G	RAI1	c.1538A>G	NM_030665.4	NP_109590.3:p.(Gln513Arg)	NC_000017.10:g.17697800A>G	(Likely) benign	2 labs	2392657b61
16:1570321 IFT140 G>A	16	1570321	1570321	G	A	IFT140	c.3684C>T	NM_014714.4	NP_055529.2:p.(Ser1228=)	NC_000016.9:g.1570321G>A	(Likely) benign	2 labs	23aaa48b7a
2:220286195 DES G>A	2	220286195	220286195	G	A	DES	c.1157G>A	NM_001927.4	NP_001918.3:p.(Arg386His)	NC_000002.11:g.220286195G>A	VUS	2 labs	23ac54fa07
2:219677144 CYP27A1 G>C	2	219677144	219677144	G	C	CYP27A1	c.646G>C	NM_000784.4	NP_000775.1:p.(Ala216Pro)	NC_000002.11:g.219677144G>C	(Likely) pathogenic	4 labs	23c3236014
8:61734439 CHD7 G>A	8	61734439	61734439	G	A	CHD7	c.2788G>A	NM_017780.4	NP_060250.2:p.(Glu930Lys)	NC_000008.10:g.61734439G>A	VUS	2 labs	23d1300ee2
12:80752450 OTOGL G>A	12	80752450	80752450	G	A	OTOGL	c.6122-1G>A	NM_173591.7	NP_775862.4:p.?	NC_000012.11:g.80752450G>A	(Likely) pathogenic	2 labs	23daaad7cc
12:22040762 ABCC9 C>T	12	22040762	22040762	C	T	ABCC9	c.1909G>A	NM_020297.4	NP_064693.2:p.(Val637Ile)	NC_000012.11:g.22040762C>T	(Likely) benign	2 labs	23de5f26a3
1:36938269 CSF3R A>G	1	36938269	36938269	A	G	CSF3R	c.692T>C	NM_000760.4	NP_000751.1:p.(Met231Thr)	NC_000001.10:g.36938269A>G	(Likely) benign	2 labs	2404de93b4
11:47436707 SLC39A13 C>T	11	47436707	47436707	C	T	SLC39A13	c.1037C>T	NM_001128225.3	NP_001121697.2:p.(Pro346Leu)	NC_000011.9:g.47436707C>T	(Likely) benign	2 labs	240a51c474
2:215645825 BARD1 A>G	2	215645825	215645825	A	G	BARD1	c.773T>C	NM_000465.4	NP_000456.2:p.(Ile258Thr)	NC_000002.11:g.215645825A>G	(Likely) benign	2 labs	242e4a93b7
7:91715609 AKAP9 A>G	7	91715609	91715609	A	G	AKAP9	c.9092A>G	NM_005751.5	NP_005742.4:p.(Gln3031Arg)	NC_000007.13:g.91715609A>G	(Likely) benign	2 labs	242eb58aac
2:71909822 DYSF C>T	2	71909822	71909822	C	T	DYSF	c.6318+15C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71909822C>T	(Likely) benign	2 labs	24341bb1ae
11:108124727 ATM G>A	11	108124727	108124727	G	A	ATM	c.2085G>A	NM_000051.4	NP_000042.3:p.(Leu695=)	NC_000011.9:g.108124727G>A	(Likely) benign	2 labs	2442184ac8
16:57931428 CNGB1 C>T	16	57931428	57931428	C	T	CNGB1	c.3115G>A	NM_001297.5	NP_001288.3:p.(Gly1039Arg)	NC_000016.9:g.57931428C>T	(Likely) benign	2 labs	2451d461a9
X:153588566 FLNA C>T	X	153588566	153588566	C	T	FLNA	c.3597G>A	NM_001110556.2	NP_001104026.1:p.(Ser1199=)	NC_000023.10:g.153588566C>T	(Likely) benign	3 labs	2470561d5b
11:68702872 IGHMBP2 G>A	11	68702872	68702872	G	A	IGHMBP2	c.1738G>A	NM_002180.3	NP_002171.2:p.(Val580Ile)	NC_000011.9:g.68702872G>A	(Likely) pathogenic	2 labs	24bd47ff54
5:89933637 ADGRV1 G>A	5	89933637	89933637	G	A	ADGRV1	c.2112G>A	NM_032119.4	NP_115495.3:p.(Pro704=)	NC_000005.9:g.89933637G>A	(Likely) benign	2 labs	24c849b53f
6:56417095 DST T>A	6	56417095	56417095	T	A	DST	c.10138A>T	NM_001144769.5	NP_001138241.1:p.(Ser3380Cys)	NC_000006.11:g.56417095T>A	(Likely) benign	2 labs	24cac5a689
11:6644308 DCHS1 C>T	11	6644308	6644308	C	T	DCHS1	c.8599G>A	NM_003737.4	NP_003728.1:p.(Ala2867Thr)	NC_000011.9:g.6644308C>T	(Likely) benign	2 labs	24dce293ff
10:88446816 LDB3 C>T	10	88446816	88446816	C	T	LDB3	c.690-10C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88446816C>T	(Likely) benign	2 labs	25156a4fd4
15:77321896 PSTPIP1 G>A	15	77321896	77321896	G	A	PSTPIP1	c.543G>A	NM_003978.5	NP_003969.2:p.(Lys181=)	NC_000015.9:g.77321896G>A	(Likely) benign	3 labs	251f6c042e
1:47882391 FOXE3 A>G	1	47882391	47882391	A	G	FOXE3	c.404A>G	NM_012186.3	NP_036318.1:p.(Glu135Gly)	NC_000001.10:g.47882391A>G	VUS	2 labs	252dcb3076
5:127668735 FBN2 C>A	5	127668735	127668735	C	A	FBN2	c.4100-9G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127668735C>A	(Likely) benign	2 labs	254088deaa
8:31012190 WRN G>A	8	31012190	31012190	G	A	WRN	c.3738G>A	NM_000553.6	NP_000544.2:p.(Leu1246=)	NC_000008.10:g.31012190G>A	(Likely) benign	2 labs	2553936f46
11:18305355 HPS5 C>T	11	18305355	18305355	C	T	HPS5	c.3045G>A	NM_181507.2	NP_852608.1:p.(Met1015Ile)	NC_000011.9:g.18305355C>T	(Likely) benign	2 labs	25594ba807
15:44943797 SPG11 T>C	15	44943797	44943797	T	C	SPG11	c.1348A>G	NM_025137.4	NP_079413.3:p.(Ile450Val)	NC_000015.9:g.44943797T>C	(Likely) benign	3 labs	255d843184
2:179483237 TTN G>C	2	179483237	179483237	G	C	TTN	c.46967-19C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483237G>C	(Likely) benign	2 labs	2562d151c0
19:38995975 RYR1 G>A	19	38995975	38995975	G	A	RYR1	c.8337G>A	NM_000540.3	NP_000531.2:p.(Glu2779=)	NC_000019.9:g.38995975G>A	(Likely) benign	2 labs	256c6a263b
2:179426271 TTN T>G	2	179426271	179426271	T	G	TTN	c.84588A>C	NM_001267550.2	NP_001254479.2:p.(Arg28196Ser)	NC_000002.11:g.179426271T>G	VUS	2 labs	2576169239
7:5567496 ACTB G>A	7	5567496	5567496	G	A	ACTB	c.1011C>T	NM_001101.5	NP_001092.1:p.(Tyr337=)	NC_000007.13:g.5567496G>A	(Likely) benign	2 labs	25846de0c7
1:11169420 MTOR G>A	1	11169420	11169420	G	A	MTOR	c.7455C>T	NM_004958.4	NP_004949.1:p.(Asp2485=)	NC_000001.10:g.11169420G>A	(Likely) benign	3 labs	258b89751a
9:139401429 NOTCH1 C>T	9	139401429	139401429	C	T	NOTCH1	c.3644-4G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139401429C>T	(Likely) benign	5 labs	25a98820d4
20:45353981 SLC2A10 C>T	20	45353981	45353981	C	T	SLC2A10	c.306C>T	NM_030777.4	NP_110404.1:p.(Val102=)	NC_000020.10:g.45353981C>T	(Likely) benign	2 labs	25d82a1ff7
3:123368037 MYLK C>T	3	123368037	123368037	C	T	MYLK	c.4293G>A	NM_053025.4	NP_444253.3:p.(Pro1431=)	NC_000003.11:g.123368037C>T	(Likely) benign	2 labs	25fd295cac
X:13776575 OFD1 A>G	X	13776575	13776575	A	G	OFD1	c.1654+8A>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13776575A>G	(Likely) benign	3 labs	2600cb9c78
5:149498370 PDGFRB C>T	5	149498370	149498370	C	T	PDGFRB	c.2844G>A	NM_002609.4	NP_002600.1:p.(Arg948=)	NC_000005.9:g.149498370C>T	(Likely) benign	3 labs	260130f837
17:46023370 PNPO G>A	17	46023370	46023370	G	A	PNPO	c.546+15G>A	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46023370G>A	(Likely) benign	2 labs	260f0e174d
12:863505 WNK1 A>ACTT	12	863505	863508	A	ACTT	WNK1	c.759+16_759+18dup	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.863506_863508dup	(Likely) benign	2 labs	261a7368fa
17:59857611 BRIP1 C>T	17	59857611	59857611	C	T	BRIP1	c.1935+11G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857611C>T	(Likely) benign	2 labs	262e8c4bac
19:7506800 ARHGEF18 C>T	19	7506800	7506800	C	T	ARHGEF18	c.1222C>T	NM_001367823.1	NP_001354752.1:p.(Pro408Ser)	NC_000019.9:g.7506800C>T	(Likely) benign	2 labs	2649a68fb2
2:152534260 NEB T>C	2	152534260	152534260	T	C	NEB	c.3593A>G	NM_001271208.2	NP_001258137.2:p.(Asn1198Ser)	NC_000002.11:g.152534260T>C	(Likely) benign	4 labs	265928bf16
8:42329851 SLC20A2 A>G	8	42329851	42329851	A	G	SLC20A2	c.58T>C	NM_001257180.2	NP_001244109.1:p.(Leu20=)	NC_000008.10:g.42329851A>G	(Likely) benign	2 labs	266425735f
7:73467650 ELN C>CTGTG	7	73467650	73467689	C	CTGTG	ELN	c.1096+47_1096+50dup	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467686_73467689dup	(Likely) benign	2 labs	2667314af2
16:88805022 PIEZO1 C>A	16	88805022	88805022	C	A	PIEZO1	c.588G>T	NM_001142864.4	NP_001136336.2:p.(Leu196=)	NC_000016.9:g.88805022C>A	(Likely) benign	2 labs	2667bc3f70
1:47882003 FOXE3 G>A	1	47882003	47882003	G	A	FOXE3	c.16G>A	NM_012186.3	NP_036318.1:p.(Asp6Asn)	NC_000001.10:g.47882003G>A	(Likely) benign	2 labs	268d03a446
10:73270955 CDH23 G>A	10	73270955	73270955	G	A	CDH23	c.415G>A	NM_022124.6	NP_071407.4:p.(Val139Ile)	NC_000010.10:g.73270955G>A	VUS	3 labs	26a9736c99
20:62038072 KCNQ2 C>T	20	62038072	62038072	C	T	KCNQ2	c.2544G>A	NM_172107.4	NP_742105.1:p.(Pro848=)	NC_000020.10:g.62038072C>T	(Likely) benign	2 labs	26b0509ce2
16:2138508 TSC2 G>C	16	2138508	2138508	G	C	TSC2	c.5321G>C	NM_000548.5	NP_000539.2:p.(Ser1774Thr)	NC_000016.9:g.2138508G>C	(Likely) benign	2 labs	26bee51ddd
3:113376110 USF3 T>TTGCTGC	3	113376110	113376147	T	TTGCTGC	USF3	c.4413_4418dup	NM_001009899.4	NP_001009899.3:p.(Gln1477_Gln1478dup)	NC_000003.11:g.113376142_113376147dup	(Likely) benign	3 labs	27095287a6
1:214576221 PTPN14 C>T	1	214576221	214576221	C	T	PTPN14	c.581+5G>A	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214576221C>T	(Likely) benign	2 labs	27099a708a
17:36486011 GPR179 G>A	17	36486011	36486011	G	A	GPR179	c.3441C>T	NM_001004334.4	NP_001004334.3:p.(Ser1147=)	NC_000017.10:g.36486011G>A	(Likely) benign	2 labs	270b72a741
1:211280724 KCNH1 TA>T	1	211280724	211280738	TA	T	KCNH1	c.80-6del	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211280738del	(Likely) benign	3 labs	270bf4631c
11:46727269 ZNF408 T>G	11	46727269	46727269	T	G	ZNF408	c.2019T>G	NM_024741.3	NP_079017.1:p.(Val673=)	NC_000011.9:g.46727269T>G	(Likely) benign	2 labs	271493607c
2:179414298 TTN A>G	2	179414298	179414298	A	G	TTN	c.92151T>C	NM_001267550.2	NP_001254479.2:p.(Tyr30717=)	NC_000002.11:g.179414298A>G	(Likely) benign	3 labs	27537a1265
17:74469185 RHBDF2 C>T	17	74469185	74469185	C	T	RHBDF2	c.1899G>A	NM_024599.5	NP_078875.4:p.(Val633=)	NC_000017.10:g.74469185C>T	(Likely) benign	2 labs	2762b3bf81
10:112557397 RBM20 G>A	10	112557397	112557397	G	A	RBM20	c.1659G>A	NM_001134363.3	NP_001127835.2:p.(Ser553=)	NC_000010.10:g.112557397G>A	(Likely) benign	4 labs	2770326747
7:33217083 BBS9 T>C	7	33217083	33217083	T	C	BBS9	c.329-7T>C	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217083T>C	(Likely) benign	2 labs	278175ef97
2:179549438 TTN C>G	2	179549438	179549438	C	G	TTN	c.32593G>C	NM_001267550.2	NP_001254479.2:p.(Val10865Leu)	NC_000002.11:g.179549438C>G	(Likely) benign	3 labs	27a17cd520
17:41276113 BRCA1 T>C	17	41276113	41276113	T	C	BRCA1				NC_000017.10:g.41276113T>C	(Likely) pathogenic	2 labs	27a80b170d
1:94546104 ABCA4 A>G	1	94546104	94546104	A	G	ABCA4	c.1029T>C	NM_000350.3	NP_000341.2:p.(Asn343=)	NC_000001.10:g.94546104A>G	(Likely) benign	2 labs	27d8ea482b
19:15276799 NOTCH3 G>A	19	15276799	15276799	G	A	NOTCH3	c.5466C>T	NM_000435.3	NP_000426.2:p.(Ser1822=)	NC_000019.9:g.15276799G>A	(Likely) benign	2 labs	27dee207d9
X:153296777 MECP2 G>A	X	153296777	153296777	G	A	MECP2	c.223C>T	NM_001369391.2	NP_001356320.1:p.(Arg75Ter)	NC_000023.10:g.153296777G>A	(Likely) pathogenic	5 labs	27e976c315
12:119631654 HSPB8 C>T	12	119631654	119631654	C	T	HSPB8	c.582C>T	NM_014365.3	NP_055180.1:p.(Thr194=)	NC_000012.11:g.119631654C>T	(Likely) benign	2 labs	2822403fef
2:121743985 GLI2 A>G	2	121743985	121743985	A	G	GLI2	c.2088A>G	NM_001371271.1	NP_001358200.1:p.(Ala696=)	NC_000002.11:g.121743985A>G	(Likely) benign	3 labs	28235a2be0
14:23855171 MYH6 T>A	14	23855171	23855171	T	A	MYH6	c.5129A>T	NM_002471.4	NP_002462.2:p.(Glu1710Val)	NC_000014.8:g.23855171T>A	VUS	3 labs	283f4cea5f
2:179659924 TTN G>A	2	179659924	179659924	G	A	TTN	c.970C>T	NM_001267550.2	NP_001254479.2:p.(Pro324Ser)	NC_000002.11:g.179659924G>A	(Likely) benign	2 labs	28434ea2c8
7:45113170 CCM2 G>A	7	45113170	45113170	G	A	CCM2	c.915G>A	NM_031443.4	NP_113631.1:p.(Thr305=)	NC_000007.13:g.45113170G>A	(Likely) benign	3 labs	286da1b2eb
18:29178565 TTR G>A	18	29178565	29178565	G	A	TTR	c.371G>A	NM_000371.4	NP_000362.1:p.(Arg124His)	NC_000018.9:g.29178565G>A	(Likely) benign	4 labs	288598f798
8:10467589 RP1L1 T>TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	8	10467589	10467605	T	TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC	RP1L1	c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG	NM_178857.6	NP_849188.4:p.(Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)	NC_000008.10:g.10467604_10467605insTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCCCCTCTAACTGCACCC	(Likely) benign	2 labs	288fd7189e
14:23885290 MYH7 C>G	14	23885290	23885290	C	G	MYH7	c.4876G>C	NM_000257.4	NP_000248.2:p.(Glu1626Gln)	NC_000014.8:g.23885290C>G	VUS	2 labs	289989f5c1
X:32563327 DMD G>T	X	32563327	32563327	G	T	DMD	c.2117C>A	NM_004006.3	NP_003997.2:p.(Pro706Gln)	NC_000023.10:g.32563327G>T	(Likely) benign	2 labs	28a52cdce2
15:90191663 KIF7 G>C	15	90191663	90191663	G	C	KIF7	c.1266C>G	NM_198525.3	NP_940927.2:p.(Leu422=)	NC_000015.9:g.90191663G>C	(Likely) benign	2 labs	28a9407cfa
15:85360101 ALPK3 T>C	15	85360101	85360101	T	C	ALPK3				NC_000015.9:g.85360101T>C	(Likely) benign	2 labs	28abaf4b92
2:211473070 CPS1 G>T	2	211473070	211473070	G	T	CPS1	c.2193-15G>T	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211473070G>T	(Likely) benign	3 labs	28abb9d962
19:47260091 FKRP C>T	19	47260091	47260091	C	T	FKRP	c.1384C>T	NM_001039885.3	NP_001034974.1:p.(Pro462Ser)	NC_000019.9:g.47260091C>T	(Likely) pathogenic	2 labs	28ad101eb8
14:102498790 DYNC1H1 T>C	14	102498790	102498790	T	C	DYNC1H1	c.10065T>C	NM_001376.5	NP_001367.2:p.(Ser3355=)	NC_000014.8:g.102498790T>C	(Likely) benign	2 labs	28e84e5cef
15:73617673 HCN4 C>G	15	73617673	73617673	C	G	HCN4	c.1703G>C	NM_005477.3	NP_005468.1:p.(Ser568Thr)	NC_000015.9:g.73617673C>G	(Likely) benign	3 labs	28ed272723
1:3328120 PRDM16 G>A	1	3328120	3328120	G	A	PRDM16	c.1359G>A	NM_022114.4	NP_071397.3:p.(Pro453=)	NC_000001.10:g.3328120G>A	(Likely) benign	2 labs	28ed420a7b
X:48398231 TBC1D25 C>T	X	48398231	48398231	C	T	TBC1D25	c.46C>T	NM_002536.4	NP_002527.1:p.(Pro16Ser)	NC_000023.10:g.48398231C>T	(Likely) benign	2 labs	28f5eded04
X:32407753 DMD G>A	X	32407753	32407753	G	A	DMD	c.4383C>T	NM_004006.3	NP_003997.2:p.(Phe1461=)	NC_000023.10:g.32407753G>A	(Likely) benign	2 labs	28f9d989a7
2:15432720 NBAS G>A	2	15432720	15432720	G	A	NBAS	c.4968C>T	NM_015909.4	NP_056993.2:p.(Asp1656=)	NC_000002.11:g.15432720G>A	(Likely) benign	2 labs	290a34342a
17:56285503 MKS1 C>T	17	56285503	56285503	C	T	MKS1	c.1128G>A	NM_017777.4	NP_060247.2:p.(Thr376=)	NC_000017.10:g.56285503C>T	(Likely) benign	2 labs	290a8b3ed0
10:124271528 HTRA1 C>T	10	124271528	124271528	C	T	HTRA1	c.1221C>T	NM_002775.5	NP_002766.1:p.(Asp407=)	NC_000010.10:g.124271528C>T	(Likely) benign	2 labs	2917a344f4
12:88448066 CEP290 AT>A	12	88448066	88448076	AT	A	CEP290	c.7034+50del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88448076del	(Likely) benign	2 labs	2949288c08
1:40773123 COL9A2 G>C	1	40773123	40773123	G	C	COL9A2	c.1003C>G	NM_001852.4	NP_001843.1:p.(Leu335Val)	NC_000001.10:g.40773123G>C	(Likely) benign	2 labs	2958a932cf
2:121726427 GLI2 A>T	2	121726427	121726427	A	T	GLI2	c.781A>T	NM_005270.5	NP_005261.2:p.(Asn261Tyr)	NC_000002.11:g.121726427A>T	VUS	2 labs	29592e0ad4
9:138670290 KCNT1 A>G	9	138670290	138670290	A	G	KCNT1	c.2408A>G	NM_001272003.2	NP_001258932.1:p.(Glu803Gly)	NC_000009.11:g.138670290A>G	(Likely) benign	3 labs	295f74776e
10:27333121 ANKRD26 T>TAA	10	27333121	27333133	T	TAA	ANKRD26	c.1986-4_1986-3dup	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27333132_27333133dup	(Likely) benign	3 labs	2990fabc92
2:179394972 TTN C>CCAT	2	179394972	179394976	C	CCAT	TTN	c.106367_106369dup	NM_001267550.2	NP_001254479.2:p.(Asp35456dup)	NC_000002.11:g.179394974_179394976dup	VUS	2 labs	29950a97f1
X:152770814 BGN G>A	X	152770814	152770814	G	A	BGN	c.351+6G>A	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770814G>A	(Likely) benign	3 labs	29b2b5ddc0
15:63335949 TPM1 G>A	15	63335949	63335949	G	A	TPM1	c.159G>A	NM_001018007.2	NP_001018007.1:p.(Ser53=)	NC_000015.9:g.63335949G>A	(Likely) benign	2 labs	29c2109dd7
6:7568747 DSP G>A	6	7568747	7568747	G	A	DSP	c.1344G>A	NM_004415.4	NP_004406.2:p.(Leu448=)	NC_000006.11:g.7568747G>A	(Likely) benign	3 labs	29e27b4b54
7:6037057 PMS2 G>GA	7	6037057	6037074	G	GA	PMS2	c.706-4dup	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037074dup	(Likely) benign	5 labs	29e3fd88fe
11:2466660 KCNQ1 A>G	11	2466660	2466660	A	G	KCNQ1	c.332A>G	NM_000218.3	NP_000209.2:p.(Tyr111Cys)	NC_000011.9:g.2466660A>G	(Likely) pathogenic	2 labs	29e6e1d433
8:1871183 ARHGEF10 C>T	8	1871183	1871183	C	T	ARHGEF10	c.2269C>T	NM_001308153.2	NP_001295082.1:p.(His757Tyr)	NC_000008.10:g.1871183C>T	(Likely) benign	3 labs	29f56c06ff
X:39921515 BCOR T>C	X	39921515	39921515	T	C	BCOR	c.4305A>G	NM_001123385.2	NP_001116857.1:p.(Pro1435=)	NC_000023.10:g.39921515T>C	(Likely) benign	2 labs	2a030b67f7
1:66081791 LEPR C>T	1	66081791	66081791	C	T	LEPR	c.2096C>T	NM_001003679.3	NP_001003679.1:p.(Thr699Met)	NC_000001.10:g.66081791C>T	(Likely) benign	2 labs	2a294359bf
2:179438136 TTN G>C	2	179438136	179438136	G	C	TTN	c.72723C>G	NM_001267550.2	NP_001254479.2:p.(Val24241=)	NC_000002.11:g.179438136G>C	(Likely) benign	4 labs	2a30741080
12:56086993 ITGA7 C>T	12	56086993	56086993	C	T	ITGA7	c.2656G>A	NM_001144996.2	NP_001138468.1:p.(Glu886Lys)	NC_000012.11:g.56086993C>T	(Likely) benign	3 labs	2a31be34b5
12:133245025 POLE G>C	12	133245025	133245025	G	C	POLE	c.2090C>G	NM_006231.4	NP_006222.2:p.(Pro697Arg)	NC_000012.11:g.133245025G>C	(Likely) benign	4 labs	2a31d0e58e
1:155205016 GBA1 T>A	1	155205016	155205016	T	A	GBA1	c.1475A>T	NM_001005741.3	NP_001005741.1:p.(Asp492Val)	NC_000001.10:g.155205016T>A	VUS	3 labs	2a3e9d0b52
2:227661395 IRS1 TTGC>T	2	227661395	227661418	TTGC	T	IRS1	c.2057_2059del	NM_005544.3	NP_005535.1:p.(Ser686del)	NC_000002.11:g.227661416_227661418del	(Likely) benign	2 labs	2a41465053
5:79950699 DHFR TGCAGCGGCTGCAGCGGCC>T	5	79950699	79950725	TGCAGCGGCTGCAGCGGCC	T	DHFR	n.86_103del	NR_110936.2		NC_000005.9:g.79950708_79950725del	(Likely) benign	2 labs	2a512f6ced
7:128475585 FLNC G>A	7	128475585	128475585	G	A	FLNC	c.558G>A	NM_001458.5	NP_001449.3:p.(Gln186=)	NC_000007.13:g.128475585G>A	(Likely) benign	3 labs	2a8b63d73e
17:39913807 JUP A>C	17	39913807	39913807	A	C	JUP	c.1925-19T>G	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39913807A>C	(Likely) benign	3 labs	2abb12211b
12:21998771 ABCC9 A>G	12	21998771	21998771	A	G	ABCC9	c.2867-5T>C	NM_001377273.1	NP_001364202.1:p.?	NC_000012.11:g.21998771A>G	(Likely) benign	2 labs	2ac4703db0
2:189908001 COL5A2 G>A	2	189908001	189908001	G	A	COL5A2	c.3364-17C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189908001G>A	(Likely) benign	2 labs	2ad5fd2f3a
2:220075521 ABCB6 C>T	2	220075521	220075521	C	T	ABCB6	c.2168G>A	NM_005689.4	NP_005680.1:p.(Arg723Gln)	NC_000002.11:g.220075521C>T	VUS	2 labs	2ae71f6370
7:128482836 FLNC G>A	7	128482836	128482836	G	A	FLNC	c.2390-12G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482836G>A	(Likely) benign	2 labs	2afd1645ad
2:179613268 TTN T>G	2	179613268	179613268	T	G	TTN	c.13859A>C	NM_133379.5	NP_596870.2:p.(Gln4620Pro)	NC_000002.11:g.179613268T>G	(Likely) benign	4 labs	2b35132579
3:123411610 MYLK C>T	3	123411610	123411610	C	T	MYLK	c.3537G>A	NM_053025.4	NP_444253.3:p.(Ala1179=)	NC_000003.11:g.123411610C>T	(Likely) benign	2 labs	2b3d42761e
10:121429634 BAG3 G>A	10	121429634	121429634	G	A	BAG3	c.452G>A	NM_004281.4	NP_004272.2:p.(Cys151Tyr)	NC_000010.10:g.121429634G>A	VUS	4 labs	2b440618cb
14:23855577 MYH6 G>A	14	23855577	23855577	G	A	MYH6	c.4906C>T	NM_002471.4	NP_002462.2:p.(Arg1636Cys)	NC_000014.8:g.23855577G>A	(Likely) benign	3 labs	2b4609ecec
13:32931887 BRCA2 G>A	13	32931887	32931887	G	A	BRCA2	c.7626G>A	NM_000059.4	NP_000050.3:p.(Thr2542=)	NC_000013.10:g.32931887G>A	(Likely) benign	6 labs	2b5bfd9ee6
2:179408646 TTN A>T	2	179408646	179408646	A	T	TTN	c.96225T>A	NM_001267550.2	NP_001254479.2:p.(Val32075=)	NC_000002.11:g.179408646A>T	(Likely) benign	2 labs	2b5f6980ba
11:6646731 DCHS1 G>T	11	6646731	6646731	G	T	DCHS1	c.6863-19C>A	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6646731G>T	(Likely) benign	2 labs	2b71f63a85
16:88497651 ZNF469 C>A	16	88497651	88497651	C	A	ZNF469	c.3773C>A	NM_001367624.2	NP_001354553.1:p.(Ala1258Glu)	NC_000016.9:g.88497651C>A	(Likely) benign	2 labs	2b799e2dde
2:189918622 COL5A2 G>A	2	189918622	189918622	G	A	COL5A2	c.2498C>T	NM_000393.5	NP_000384.2:p.(Pro833Leu)	NC_000002.11:g.189918622G>A	(Likely) benign	2 labs	2ba4029aa1
17:40716520 COASY A>G	17	40716520	40716520	A	G	COASY	c.972A>G	NM_025233.7	NP_079509.5:p.(Thr324=)	NC_000017.10:g.40716520A>G	(Likely) benign	2 labs	2bb67b0080
X:44921996 KDM6A G>A	X	44921996	44921996	G	A	KDM6A	c.1683+3G>A	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44921996G>A	(Likely) benign	3 labs	2bd33d4fd5
18:29104503 DSG2 T>A	18	29104503	29104503	T	A	DSG2	c.783T>A	NM_001943.5	NP_001934.2:p.(Arg261=)	NC_000018.9:g.29104503T>A	(Likely) benign	3 labs	2be860c813
5:180030322 FLT4 C>T	5	180030322	180030322	C	T	FLT4	c.3962G>A	NM_182925.5	NP_891555.2:p.(Arg1321Gln)	NC_000005.9:g.180030322C>T	(Likely) benign	2 labs	2c02a2471f
2:109513601 EDAR A>G	2	109513601	109513601	A	G	EDAR	c.1109T>C	NM_022336.4	NP_071731.1:p.(Val370Ala)	NC_000002.11:g.109513601A>G	(Likely) benign	2 labs	2c042002eb
13:100955268 PCCA G>A	13	100955268	100955268	G	A	PCCA	c.1284+16G>A	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100955268G>A	(Likely) benign	2 labs	2c10107443
6:75904605 COL12A1 T>C	6	75904605	75904605	T	C	COL12A1	c.132A>G	NM_004370.6	NP_004361.3:p.(Ser44=)	NC_000006.11:g.75904605T>C	(Likely) benign	2 labs	2c1a523d96
1:236911045 ACTN2 G>A	1	236911045	236911045	G	A	ACTN2	c.861G>A	NM_001278344.2	NP_001265273.1:p.(Thr287=)	NC_000001.10:g.236911045G>A	(Likely) benign	2 labs	2c260846de
14:50626553 SOS2 C>T	14	50626553	50626553	C	T	SOS2	c.1448G>A	NM_006939.4	NP_008870.2:p.(Ser483Asn)	NC_000014.8:g.50626553C>T	(Likely) benign	2 labs	2c2b4c1429
2:238289917 COL6A3 C>T	2	238289917	238289917	C	T	COL6A3	c.1538G>A	NM_004369.4	NP_004360.2:p.(Arg513Gln)	NC_000002.11:g.238289917C>T	VUS	3 labs	2c2f55f0f6
X:148048494 AFF2 A>C	X	148048494	148048494	A	C	AFF2	c.3088A>C	NM_002025.4	NP_002016.2:p.(Ile1030Leu)	NC_000023.10:g.148048494A>C	(Likely) benign	3 labs	2c3bc17cd0
10:61941168 ANK3 G>A	10	61941168	61941168	G	A	ANK3	c.2103C>T	NM_020987.5	NP_066267.2:p.(Leu701=)	NC_000010.10:g.61941168G>A	(Likely) benign	2 labs	2c55966e2c
14:102468009 DYNC1H1 G>A	14	102468009	102468009	G	A	DYNC1H1	c.4533G>A	NM_001376.5	NP_001367.2:p.(Pro1511=)	NC_000014.8:g.102468009G>A	(Likely) benign	2 labs	2c55b48685
15:90196166 KIF7 A>C	15	90196166	90196166	A	C	KIF7	c.-5T>G	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90196166A>C	(Likely) benign	3 labs	2c5fbdc0d8
7:91727479 AKAP9 A>T	7	91727479	91727479	A	T	AKAP9	c.10664A>T	NM_005751.5	NP_005742.4:p.(Asp3555Val)	NC_000007.13:g.91727479A>T	(Likely) benign	3 labs	2c6f139cd1
18:31523144 NOL4 T>TA	18	31523144	31523155	T	TA	NOL4	c.676-3dup	NM_001353233.1	NP_001340162.1:p.?	NC_000018.9:g.31523155dup	(Likely) benign	2 labs	2c73248eaf
2:73613031 ALMS1 T>TGGA	2	73613031	73613070	T	TGGA	ALMS1	c.35_41=	NM_015120.4	NP_055935.4:p.(Leu12_Glu14=)	NC_000002.11:g.73613068_73613070dup	(Likely) benign	3 labs	2c8c6b7a55
12:133249753 POLE G>A	12	133249753	133249753	G	A	POLE	c.1470C>T	NM_006231.4	NP_006222.2:p.(Asp490=)	NC_000012.11:g.133249753G>A	(Likely) benign	4 labs	2c97ebc93e
X:66765158 AR TGCAGCAGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCAGCAGCA	T	AR	c.222_239del	NM_000044.6	NP_000035.2:p.(Gln75_Gln80del)	NC_000023.10:g.66765210_66765227del	(Likely) benign	2 labs	2c9cc83ce9
4:114284598 ANK2 C>G	4	114284598	114284598	C	G	ANK2	c.10861C>G	NM_001148.6	NP_001139.3:p.(Leu3621Val)	NC_000004.11:g.114284598C>G	(Likely) benign	3 labs	2cd2f8c5b6
2:44050034 ABCG5 G>A	2	44050034	44050034	G	A	ABCG5	c.1365C>T	NM_022436.3	NP_071881.1:p.(Asp455=)	NC_000002.11:g.44050034G>A	(Likely) benign	2 labs	2cf76baa93
10:68040276 CTNNA3 C>T	10	68040276	68040276	C	T	CTNNA3	c.1836G>A	NM_013266.4	NP_037398.2:p.(Lys612=)	NC_000010.10:g.68040276C>T	(Likely) benign	3 labs	2d4cfc4042
9:137703346 COL5A1 C>T	9	137703346	137703346	C	T	COL5A1	c.3591C>T	NM_000093.5	NP_000084.3:p.(Asp1197=)	NC_000009.11:g.137703346C>T	(Likely) benign	2 labs	2da6735054
3:49760431 GMPPB G>C	3	49760431	49760431	G	C	GMPPB	c.376C>G	NM_013334.4	NP_037466.3:p.(His126Asp)	NC_000003.11:g.49760431G>C	(Likely) benign	2 labs	2dc6bd2265
9:79843113 VPS13A C>T	9	79843113	79843113	C	T	VPS13A	c.1528C>T	NM_033305.3	NP_150648.2:p.(Leu510=)	NC_000009.11:g.79843113C>T	(Likely) benign	2 labs	2de7a73533
8:10470288 RP1L1 G>A	8	10470288	10470288	G	A	RP1L1	c.1320C>T	NM_178857.6	NP_849188.4:p.(His440=)	NC_000008.10:g.10470288G>A	(Likely) benign	2 labs	2e1888e958
19:54307215 NLRP12 C>T	19	54307215	54307215	C	T	NLRP12	c.2576G>A	NM_144687.4	NP_653288.1:p.(Arg859Gln)	NC_000019.9:g.54307215C>T	(Likely) benign	2 labs	2e22748c8c
6:65336020 EYS G>A	6	65336020	65336020	G	A	EYS	c.3562C>T	NM_001292009.2	NP_001278938.1:p.(Gln1188Ter)	NC_000006.11:g.65336020G>A	(Likely) pathogenic	2 labs	2e36bdb674
2:179500772 TTN T>C	2	179500772	179500772	T	C	TTN	c.33822A>G	NM_133378.4	NP_596869.4:p.(Ala11274=)	NC_000002.11:g.179500772T>C	(Likely) benign	2 labs	2e6e5f7a24
10:88476064 LDB3 GT>G	10	88476064	88476072	GT	G	LDB3	c.1247-12del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88476072del	(Likely) benign	2 labs	2e7ab65df1
22:19163685 SLC25A1 A>G	22	19163685	19163685	A	G	SLC25A1	c.894T>C	NM_005984.5	NP_005975.1:p.(Asp298=)	NC_000022.10:g.19163685A>G	(Likely) benign	3 labs	2e8c44ec12
6:170871054 TBP AG>A	6	170871054	170871055	AG	A	TBP	c.231del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer67)	NC_000006.11:g.170871055del	(Likely) benign	4 labs	2edc757f21
17:15163977 PMP22 G>C	17	15163977	15163977	G	C	PMP22	c.68C>G	NM_000304.4	NP_000295.1:p.(Thr23Arg)	NC_000017.10:g.15163977G>C	(Likely) pathogenic	2 labs	2ee4658a2b
10:64573566 EGR2 C>T	10	64573566	64573566	C	T	EGR2	c.832G>A	NM_000399.5	NP_000390.2:p.(Ala278Thr)	NC_000010.10:g.64573566C>T	VUS	2 labs	2ee5bc9ec8
2:152402515 NEB T>TAA	2	152402515	152402532	T	TAA	NEB	c.20467-5_20467-4dup	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402531_152402532dup	(Likely) benign	2 labs	2ef42e6145
15:73621968 HCN4 G>A	15	73621968	73621968	G	A	HCN4	c.1536C>T	NM_005477.3	NP_005468.1:p.(His512=)	NC_000015.9:g.73621968G>A	(Likely) benign	2 labs	2efd41b27c
2:73784477 ALMS1 T>A	2	73784477	73784477	T	A	ALMS1	c.10212T>A	NM_015120.4	NP_055935.4:p.(Thr3404=)	NC_000002.11:g.73784477T>A	(Likely) benign	2 labs	2effd662af
10:112541141 RBM20 G>A	10	112541141	112541141	G	A	RBM20	c.774G>A	NM_001134363.3	NP_001127835.2:p.(Ser258=)	NC_000010.10:g.112541141G>A	(Likely) benign	2 labs	2f684f0ae2
2:112686742 MERTK C>T	2	112686742	112686742	C	T	MERTK	c.107C>T	NM_006343.3	NP_006334.2:p.(Pro36Leu)	NC_000002.11:g.112686742C>T	(Likely) benign	2 labs	2f7144558a
7:128494259 FLNC G>T	7	128494259	128494259	G	T	FLNC	c.6716G>T	NM_001458.5	NP_001449.3:p.(Arg2239Leu)	NC_000007.13:g.128494259G>T	VUS	4 labs	2f71e26e02
2:86444180 REEP1 C>A	2	86444180	86444180	C	A	REEP1	c.414G>T	NM_001164732.2	NP_001158204.1:p.(Ser138=)	NC_000002.11:g.86444180C>A	(Likely) benign	2 labs	2f7f9038cd
22:29885352 NEFH C>T	22	29885352	29885352	C	T	NEFH	c.1723C>T	NM_021076.4	NP_066554.2:p.(Pro575Ser)	NC_000022.10:g.29885352C>T	(Likely) benign	2 labs	2f9c6247c6
22:24718408 SPECC1L G>A	22	24718408	24718408	G	A	SPECC1L	c.1460G>A	NM_015330.6	NP_056145.5:p.(Arg487His)	NC_000022.10:g.24718408G>A	(Likely) benign	3 labs	2fbb1c12c8
19:38995438 RYR1 T>C	19	38995438	38995438	T	C	RYR1	c.8118T>C	NM_000540.3	NP_000531.2:p.(Ile2706=)	NC_000019.9:g.38995438T>C	(Likely) benign	2 labs	2fb0eed2bf
19:8649943 ADAMTS10 G>GAGGGGGC	19	8649943	8649951	G	GAGGGGGC	ADAMTS10	c.3043-12_3043-6dup	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8649945_8649951dup	(Likely) benign	2 labs	2fb5c09f6b
14:57268853 OTX2 A>T	14	57268853	57268853	A	T	OTX2	c.470T>A	NM_001270524.2	NP_001257453.1:p.(Ile157Asn)	NC_000014.8:g.57268853A>T	VUS	2 labs	2fd1c43ea2
12:1909582 CACNA2D4 G>A	12	1909582	1909582	G	A	CACNA2D4	c.2891C>T	NM_172364.5	NP_758952.4:p.(Ala964Val)	NC_000012.11:g.1909582G>A	(Likely) benign	2 labs	2fd2aae4c3
2:21250792 APOB G>A	2	21250792	21250792	G	A	APOB	c.1975C>T	NM_000384.3	NP_000375.3:p.(Leu659Phe)	NC_000002.11:g.21250792G>A	VUS	3 labs	2fe3e8ebb0
2:44102364 ABCG8 C>T	2	44102364	44102364	C	T	ABCG8	c.1568C>T	NM_022437.3	NP_071882.1:p.(Pro523Leu)	NC_000002.11:g.44102364C>T	VUS	2 labs	2fe596be67
2:179529457 TTN T>G	2	179529457	179529457	T	G	TTN	c.36126A>C	NM_001267550.2	NP_001254479.2:p.(Glu12042Asp)	NC_000002.11:g.179529457T>G	(Likely) benign	5 labs	30230121ec
2:179582378 TTN G>A	2	179582378	179582378	G	A	TTN	c.25223C>T	NM_001267550.2	NP_001254479.2:p.(Thr8408Ile)	NC_000002.11:g.179582378G>A	(Likely) benign	2 labs	3044663736
6:110113939 FIG4 CT>C	6	110113939	110113958	CT	C	FIG4	c.2459+91del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113958del	(Likely) benign	2 labs	306a138317
8:1808270 ARHGEF10 C>T	8	1808270	1808270	C	T	ARHGEF10	c.473C>T	NM_001308153.2	NP_001295082.1:p.(Ala158Val)	NC_000008.10:g.1808270C>T	(Likely) benign	2 labs	30adbadf8e
10:88477833 LDB3 T>A	10	88477833	88477833	T	A	LDB3	c.1804T>A	NM_001171610.2	NP_001165081.1:p.(Tyr602Asn)	NC_000010.10:g.88477833T>A	VUS	3 labs	30b4562916
8:106814597 ZFPM2 G>A	8	106814597	106814597	G	A	ZFPM2	c.2287G>A	NM_012082.4	NP_036214.2:p.(Val763Ile)	NC_000008.10:g.106814597G>A	(Likely) benign	4 labs	30cf52680c
12:64858100 TBK1 A>AT	12	64858100	64858110	A	AT	TBK1	c.229-4dup	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64858110dup	(Likely) benign	2 labs	30d8001944
4:119745898 SEC24D A>G	4	119745898	119745898	A	G	SEC24D	c.125T>C	NM_014822.4	NP_055637.2:p.(Met42Thr)	NC_000004.11:g.119745898A>G	(Likely) benign	2 labs	30edb1e85a
1:213032541 FLVCR1 T>C	1	213032541	213032541	T	C	FLVCR1	c.738+9T>C	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213032541T>C	(Likely) benign	2 labs	30f5769ccc
2:27700486 IFT172 C>T	2	27700486	27700486	C	T	IFT172	c.1168-7G>A	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27700486C>T	(Likely) benign	2 labs	30f745ccd8
1:45800146 MUTYH C>T	1	45800146	45800146	C	T	MUTYH	c.74G>A	NM_001128425.2	NP_001121897.1:p.(Gly25Asp)	NC_000001.10:g.45800146C>T	(Likely) benign	3 labs	31193a8720
7:6018315 PMS2 G>C	7	6018315	6018315	G	C	PMS2	c.2187C>G	NM_000535.7	NP_000526.2:p.(Leu729=)	NC_000007.13:g.6018315G>C	(Likely) benign	4 labs	3127b8f6e4
10:121436362 BAG3 A>G	10	121436362	121436362	A	G	BAG3	c.1296A>G	NM_004281.4	NP_004272.2:p.(Val432=)	NC_000010.10:g.121436362A>G	(Likely) benign	3 labs	31395576d1
20:32031254 SNTA1 T>C	20	32031254	32031254	T	C	SNTA1	c.173A>G	NM_003098.3	NP_003089.1:p.(Glu58Gly)	NC_000020.10:g.32031254T>C	(Likely) benign	2 labs	316051082e
3:52027853 RPL29 T>TCCTTGG	3	52027853	52027881	T	TCCTTGG	RPL29	c.386_391dup	NM_000992.3	NP_000983.1:p.(Ala129_Lys130dup)	NC_000003.11:g.52027876_52027881dup	(Likely) benign	2 labs	31be99bfb1
10:112583251 RBM20 C>T	10	112583251	112583251	C	T	RBM20	c.3330C>T	NM_001134363.3	NP_001127835.2:p.(Tyr1110=)	NC_000010.10:g.112583251C>T	(Likely) benign	2 labs	31c8aadbb3
2:179431718 TTN T>A	2	179431718	179431718	T	A	TTN	c.79141A>T	NM_001267550.2	NP_001254479.2:p.(Lys26381Ter)	NC_000002.11:g.179431718T>A	(Likely) pathogenic	2 labs	31c9104708
1:5934594 NPHP4 G>A	1	5934594	5934594	G	A	NPHP4	c.3168C>T	NM_015102.5	NP_055917.1:p.(His1056=)	NC_000001.10:g.5934594G>A	(Likely) benign	3 labs	31dbc379d2
6:121768436 GJA1 G>A	6	121768436	121768436	G	A	GJA1	c.443G>A	NM_000165.5	NP_000156.1:p.(Arg148Gln)	NC_000006.11:g.121768436G>A	(Likely) pathogenic	2 labs	31e05f8e58
15:63335964 TPM1 C>T	15	63335964	63335964	C	T	TPM1	c.174C>T	NM_001018007.2	NP_001018007.1:p.(Asp58=)	NC_000015.9:g.63335964C>T	(Likely) benign	2 labs	31ec0ce1df
17:39925712 JUP G>A	17	39925712	39925712	G	A	JUP	c.426C>T	NM_001352773.2	NP_001339702.1:p.(Arg142=)	NC_000017.10:g.39925712G>A	(Likely) benign	4 labs	31f9573fab
6:152510466 SYNE1 T>C	6	152510466	152510466	T	C	SYNE1	c.23009A>G	NM_033071.4	NP_149062.2:p.(Tyr7670Cys)	NC_000006.11:g.152510466T>C	VUS	2 labs	3241268591
17:63533849 AXIN2 C>T	17	63533849	63533849	C	T	AXIN2	c.1305G>A	NM_004655.4	NP_004646.3:p.(Pro435=)	NC_000017.10:g.63533849C>T	(Likely) benign	2 labs	324b98defc
19:36219062 KMT2B C>T	19	36219062	36219062	C	T	KMT2B	c.4561C>T	NM_014727.3	NP_055542.1:p.(Arg1521Trp)	NC_000019.9:g.36219062C>T	VUS	2 labs	326c728134
13:32929047 BRCA2 G>C	13	32929047	32929047	G	C	BRCA2	c.7057G>C	NM_000059.4	NP_000050.3:p.(Gly2353Arg)	NC_000013.10:g.32929047G>C	(Likely) benign	5 labs	327345db03
9:133759378 ABL1 C>T	9	133759378	133759378	C	T	ABL1	c.1701C>T	NM_005157.6	NP_005148.2:p.(Ala567=)	NC_000009.11:g.133759378C>T	(Likely) benign	2 labs	32850abad9
13:110839550 COL4A1 T>G	13	110839550	110839550	T	G	COL4A1	c.1663=	NM_001845.6	NP_001836.3:p.(Pro555=)	NC_000013.10:g.110839550T>G	(Likely) benign	4 labs	329acb6431
X:153674876 FAM50A C>T	X	153674876	153674876	C	T	FAM50A	c.410C>T	NM_004699.4	NP_004690.1:p.(Ala137Val)	NC_000023.10:g.153674876C>T	(Likely) benign	2 labs	32ac984a71
16:53644956 RPGRIP1L G>A	16	53644956	53644956	G	A	RPGRIP1L	c.3486C>T	NM_001308334.3	NP_001295263.1:p.(Tyr1162=)	NC_000016.9:g.53644956G>A	(Likely) benign	2 labs	32b8230759
10:13330437 PHYH G>C	10	13330437	13330437	G	C	PHYH	c.301C>G	NM_001037537.2	NP_001032626.1:p.(Arg101Gly)	NC_000010.10:g.13330437G>C	VUS	2 labs	32c599c719
10:69926394 MYPN G>A	10	69926394	69926394	G	A	MYPN	c.1944G>A	NM_032578.4	NP_115967.2:p.(Glu648=)	NC_000010.10:g.69926394G>A	(Likely) benign	3 labs	32c70f31db
6:7578092 DSP G>T	6	7578092	7578092	G	T	DSP	c.2958G>T	NM_004415.4	NP_004406.2:p.(Gln986His)	NC_000006.11:g.7578092G>T	VUS	3 labs	32dd5f6617
17:41245546 BRCA1 G>A	17	41245546	41245546	G	A	BRCA1	c.2002C>T	NM_007294.4	NP_009225.1:p.(Leu668Phe)	NC_000017.10:g.41245546G>A	(Likely) benign	3 labs	32fbf32905
1:12009956 PLOD1 G>A	1	12009956	12009956	G	A	PLOD1	c.295G>A	NM_000302.4	NP_000293.2:p.(Ala99Thr)	NC_000001.10:g.12009956G>A	(Likely) benign	2 labs	32fd142e57
2:179472155 TTN A>G	2	179472155	179472155	A	G	TTN	c.53260T>C	NM_001267550.2	NP_001254479.2:p.(Phe17754Leu)	NC_000002.11:g.179472155A>G	(Likely) benign	3 labs	330a67cb1c
19:45451620 APOC2 T>A	19	45451620	45451620	T	A	APOC2	c.-13-103T>A	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451620T>A	(Likely) benign	2 labs	33116f68f8
1:156108308 LMNA C>T	1	156108308	156108308	C	T	LMNA	c.1728C>T	NM_170707.4	NP_733821.1:p.(Pro576=)	NC_000001.10:g.156108308C>T	(Likely) benign	3 labs	333fb1f304
3:38648205 SCN5A G>C	3	38648205	38648205	G	C	SCN5A	c.1095C>G	NM_001099404.2	NP_001092874.1:p.(Leu365=)	NC_000003.11:g.38648205G>C	(Likely) benign	2 labs	3363c50eba
3:41274890 CTNNB1 C>G	3	41274890	41274890	C	G	CTNNB1	c.1140C>G	NM_001904.4	NP_001895.1:p.(Asn380Lys)	NC_000003.11:g.41274890C>G	VUS	2 labs	3369a45ba7
12:2229476 CACNA1C G>A	12	2229476	2229476	G	A	CACNA1C	c.372-15G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2229476G>A	(Likely) benign	3 labs	33866842a5
3:38620966 SCN5A G>A	3	38620966	38620966	G	A	SCN5A	c.3249C>T	NM_001099404.2	NP_001092874.1:p.(Ser1083=)	NC_000003.11:g.38620966G>A	(Likely) benign	3 labs	33b964e357
10:131761735 EBF3 G>A	10	131761735	131761735	G	A	EBF3	c.187C>T	NM_001375380.1	NP_001362309.1:p.(Arg63Trp)	NC_000010.10:g.131761735G>A	(Likely) pathogenic	2 labs	33cdea93fe
X:32663171 DMD C>T	X	32663171	32663171	C	T	DMD	c.1059G>A	NM_004006.3	NP_003997.2:p.(Ser353=)	NC_000023.10:g.32663171C>T	(Likely) benign	2 labs	33d91a16d2
7:65548162 ASL G>A	7	65548162	65548162	G	A	ASL	c.446+1G>A	NM_001024943.2	NP_001020114.1:p.?	NC_000007.13:g.65548162G>A	(Likely) pathogenic	5 labs	33e6b781d2
7:81964578 CACNA2D1 G>GA	7	81964578	81964588	G	GA	CACNA2D1	c.178-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81964588dup	(Likely) benign	2 labs	33f3cf41a9
X:9711694 GPR143 TC>T	X	9711694	9711696	TC	T	GPR143	c.677del	NM_000273.3	NP_000264.2:p.(Gly226GlufsTer16)	NC_000023.10:g.9711696del	(Likely) pathogenic	2 labs	34034ad54d
11:2549141 KCNQ1 G>A	11	2549141	2549141	G	A	KCNQ1	c.387-17G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2549141G>A	(Likely) benign	2 labs	340435ecd5
1:156849016 NTRK1 G>A	1	156849016	156849016	G	A	NTRK1	c.1908G>A	NM_002529.4	NP_002520.2:p.(Ala636=)	NC_000001.10:g.156849016G>A	(Likely) benign	3 labs	34245fdd0a
13:32912733 BRCA2 C>T	13	32912733	32912733	C	T	BRCA2	c.4241C>T	NM_000059.4	NP_000050.3:p.(Thr1414Met)	NC_000013.10:g.32912733C>T	(Likely) benign	6 labs	342bb0eb79
15:89850836 FANCI T>C	15	89850836	89850836	T	C	FANCI	c.3592-8T>C	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89850836T>C	(Likely) benign	4 labs	342c90610f
11:47363737 MYBPC3 G>C	11	47363737	47363737	G	C	MYBPC3	c.1625-30C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363737G>C	(Likely) benign	2 labs	343d8075fb
22:19748798 TBX1 C>T	22	19748798	19748798	C	T	TBX1	c.405C>T	NM_080647.1	NP_542378.1:p.(Ala135=)	NC_000022.10:g.19748798C>T	(Likely) benign	2 labs	34729997a2
3:192053223 FGF12 C>T	3	192053223	192053223	C	T	FGF12	c.341G>A	NM_021032.5	NP_066360.1:p.(Arg114His)	NC_000003.11:g.192053223C>T	(Likely) pathogenic	2 labs	3479ed9602
2:179413109 TTN C>T	2	179413109	179413109	C	T	TTN	c.93244G>A	NM_001267550.2	NP_001254479.2:p.(Glu31082Lys)	NC_000002.11:g.179413109C>T	VUS	2 labs	34cf724e1a
3:150645762 CLRN1 G>A	3	150645762	150645762	G	A	CLRN1	c.699C>T	NM_001195794.1	NP_001182723.1:p.(Asp233=)	NC_000003.11:g.150645762G>A	(Likely) benign	2 labs	3517576c5d
12:32949047 PKP2 C>T	12	32949047	32949047	C	T	PKP2	c.2485G>A	NM_004572.4	NP_004563.2:p.(Asp829Asn)	NC_000012.11:g.32949047C>T	(Likely) benign	2 labs	35304c0019
10:55698624 PCDH15 T>C	10	55698624	55698624	T	C	PCDH15	c.3324A>G	NM_001354429.2	NP_001341358.1:p.(Gln1108=)	NC_000010.10:g.55698624T>C	(Likely) benign	2 labs	356a906292
11:47373083 MYBPC3 G>A	11	47373083	47373083	G	A	MYBPC3	c.26-27C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373083G>A	(Likely) benign	2 labs	358a32c340
X:38226603 OTC A>G	X	38226603	38226603	A	G	OTC	c.137A>G	NM_000531.6	NP_000522.3:p.(Lys46Arg)	NC_000023.10:g.38226603A>G	(Likely) benign	3 labs	359d980dd8
2:179432276 TTN T>C	2	179432276	179432276	T	C	TTN	c.78583A>G	NM_001267550.2	NP_001254479.2:p.(Met26195Val)	NC_000002.11:g.179432276T>C	VUS	2 labs	359dbf9e91
18:29101215 DSG2 CT>C	18	29101215	29101230	CT	C	DSG2	c.523+24del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101230del	(Likely) benign	4 labs	35d0844e71
5:89981639 ADGRV1 C>T	5	89981639	89981639	C	T	ADGRV1	c.6317C>T	NM_032119.4	NP_115495.3:p.(Ala2106Val)	NC_000005.9:g.89981639C>T	(Likely) benign	3 labs	35e3b62a2e
16:15818492 MYH11 CG>C	16	15818492	15818496	CG	C	MYH11	c.4137+11del	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818496del	(Likely) benign	3 labs	35eda82565
17:39912480 JUP G>C	17	39912480	39912480	G	C	JUP	c.2047-14C>G	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39912480G>C	(Likely) benign	2 labs	35efc5a645
2:189867725 COL3A1 G>A	2	189867725	189867725	G	A	COL3A1	c.2490G>A	NM_000090.4	NP_000081.2:p.(Pro830=)	NC_000002.11:g.189867725G>A	(Likely) benign	2 labs	35efc7a8da
7:128488684 FLNC C>T	7	128488684	128488684	C	T	FLNC	c.4650C>T	NM_001458.5	NP_001449.3:p.(Asn1550=)	NC_000007.13:g.128488684C>T	(Likely) benign	2 labs	35f3663f17
1:235909738 LYST G>A	1	235909738	235909738	G	A	LYST	c.7870C>T	NM_001301365.1	NP_001288294.1:p.(Arg2624Trp)	NC_000001.10:g.235909738G>A	(Likely) benign	2 labs	3623898657
7:150644493 KCNH2 G>A	7	150644493	150644493	G	A	KCNH2	c.3075C>T	NM_000238.4	NP_000229.1:p.(Ile1025=)	NC_000007.13:g.150644493G>A	(Likely) benign	2 labs	362fcaf9ce
7:107338482 SLC26A4 T>G	7	107338482	107338482	T	G	SLC26A4	c.1545-5T>G	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107338482T>G	(Likely) benign	2 labs	3631f91e39
2:167129053 SCN9A G>A	2	167129053	167129053	G	A	SCN9A	c.3174C>T	NM_002977.3	NP_002968.1:p.(His1058=)	NC_000002.11:g.167129053G>A	(Likely) benign	3 labs	3654b92763
2:85360828 TCF7L1 GGGC>G	2	85360828	85360849	GGGC	G	TCF7L1	c.40_42del	NM_031283.3	NP_112573.1:p.(Gly14del)	NC_000002.11:g.85360847_85360849del	(Likely) benign	2 labs	367095072f
X:153609257 EMD C>T	X	153609257	153609257	C	T	EMD	c.465C>T	NM_000117.3	NP_000108.1:p.(Tyr155=)	NC_000023.10:g.153609257C>T	(Likely) benign	4 labs	36826b65c8
1:3329384 PRDM16 C>T	1	3329384	3329384	C	T	PRDM16	c.2603+20C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3329384C>T	(Likely) benign	2 labs	36886faf01
2:179425769 TTN G>A	2	179425769	179425769	G	A	TTN	c.85090C>T	NM_001267550.2	NP_001254479.2:p.(Arg28364Ter)	NC_000002.11:g.179425769G>A	(Likely) pathogenic	2 labs	369ca46a10
6:110083408 FIG4 A>G	6	110083408	110083408	A	G	FIG4	c.1386A>G	NM_014845.6	NP_055660.1:p.(Glu462=)	NC_000006.11:g.110083408A>G	(Likely) benign	2 labs	36b62998f3
5:127636620 FBN2 C>T	5	127636620	127636620	C	T	FBN2	c.6055G>A	NM_001999.4	NP_001990.2:p.(Glu2019Lys)	NC_000005.9:g.127636620C>T	VUS	2 labs	36b7181357
19:18272190 PIK3R2 A>C	19	18272190	18272190	A	C	PIK3R2	c.700A>C	NM_005027.4	NP_005018.2:p.(Ser234Arg)	NC_000019.9:g.18272190A>C	(Likely) benign	2 labs	37033d61ef
6:56357241 DST A>G	6	56357241	56357241	A	G	DST	c.14194-10T>C	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56357241A>G	(Likely) benign	2 labs	37a978d615
5:82816020 VCAN C>T	5	82816020	82816020	C	T	VCAN	c.1895C>T	NM_004385.5	NP_004376.2:p.(Thr632Met)	NC_000005.9:g.82816020C>T	(Likely) benign	2 labs	37c0fa40e3
12:88471122 CEP290 C>G	12	88471122	88471122	C	G	CEP290	c.5587-1G>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88471122C>G	(Likely) pathogenic	2 labs	37dc887baa
10:52913033 PRKG1 A>G	10	52913033	52913033	A	G	PRKG1	c.376A>G	NM_001098512.3	NP_001091982.1:p.(Lys126Glu)	NC_000010.10:g.52913033A>G	VUS	2 labs	37f06c75de
16:920734 LMF1 G>A	16	920734	920734	G	A	LMF1	c.1227C>T	NM_022773.4	NP_073610.2:p.(Phe409=)	NC_000016.9:g.920734G>A	(Likely) benign	2 labs	37f91443be
13:32914339 BRCA2 TGTTA>T	13	32914339	32914346	TGTTA	T	BRCA2	c.5851_5854del	NM_000059.4	NP_000050.3:p.(Ser1951TrpfsTer11)	NC_000013.10:g.32914343_32914346del	(Likely) pathogenic	2 labs	382071aa9c
4:114276905 ANK2 C>T	4	114276905	114276905	C	T	ANK2	c.7131C>T	NM_001148.6	NP_001139.3:p.(Asp2377=)	NC_000004.11:g.114276905C>T	(Likely) benign	2 labs	3839164b29
X:7268041 STS C>T	X	7268041	7268041	C	T	STS	c.1476C>T	NM_000351.7	NP_000342.3:p.(His492=)	NC_000023.10:g.7268041C>T	(Likely) benign	2 labs	3861ee5c89
17:7123492 ACADVL G>C	17	7123492	7123492	G	C	ACADVL	c.114G>C	NM_000018.4	NP_000009.1:p.(Arg38=)	NC_000017.10:g.7123492G>C	(Likely) benign	2 labs	387ba6bf0f
4:114276781 ANK2 C>T	4	114276781	114276781	C	T	ANK2	c.7007C>T	NM_001148.6	NP_001139.3:p.(Ala2336Val)	NC_000004.11:g.114276781C>T	(Likely) benign	3 labs	388481387d
10:88476170 LDB3 T>C	10	88476170	88476170	T	C	LDB3	c.1333T>C	NM_001171610.2	NP_001165081.1:p.(Ser445Pro)	NC_000010.10:g.88476170T>C	(Likely) benign	3 labs	3909aa21d4
20:57429748 GNAS C>G	20	57429748	57429748	C	G	GNAS	c.1241C>G	NM_001077490.3	NP_001070958.1:p.(Pro414Arg)	NC_000020.10:g.57429748C>G	(Likely) benign	3 labs	390d7a6c92
8:55540427 RP1 A>G	8	55540427	55540427	A	G	RP1	c.3985A>G	NM_006269.2	NP_006260.1:p.(Ile1329Val)	NC_000008.10:g.55540427A>G	VUS	2 labs	391bcdcc00
15:23892037 MAGEL2 C>T	15	23892037	23892037	C	T	MAGEL2	c.853G>A	NM_019066.5	NP_061939.3:p.(Gly285Arg)	NC_000015.9:g.23892037C>T	(Likely) benign	3 labs	392a97cf51
2:44040347 ABCG5 T>C	2	44040347	44040347	T	C	ABCG5	c.1864A>G	NM_022436.3	NP_071881.1:p.(Met622Val)	NC_000002.11:g.44040347T>C	(Likely) benign	3 labs	394494b373
5:37167274 CPLANE1 C>T	5	37167274	37167274	C	T	CPLANE1	c.7275G>A	NM_023073.4	NP_075561.3:p.(Ala2425=)	NC_000005.9:g.37167274C>T	(Likely) benign	3 labs	39551297d6
X:38146508 RPGR G>C	X	38146508	38146508	G	C	RPGR	c.1754-10C>G	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38146508G>C	(Likely) benign	2 labs	3955732863
9:116041249 PRPF4 A>G	9	116041249	116041249	A	G	PRPF4	c.233A>G	NM_004697.5	NP_004688.2:p.(His78Arg)	NC_000009.11:g.116041249A>G	(Likely) benign	2 labs	3967379c8a
2:179590623 TTN A>G	2	179590623	179590623	A	G	TTN	c.20426T>C	NM_001267550.2	NP_001254479.2:p.(Ile6809Thr)	NC_000002.11:g.179590623A>G	VUS	2 labs	396769772e
13:32915410 BRCA2 CAATT>C	13	32915410	32915416	CAATT	C	BRCA2	c.6841+80_6841+83del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32915413_32915416del	(Likely) benign	3 labs	396a2122f9
17:41251777 BRCA1 AC>A	17	41251777	41251779	AC	A	BRCA1	c.547+14del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251779del	(Likely) benign	3 labs	396c3a8a0e
1:237753074 RYR2 AT>A	1	237753074	237753084	AT	A	RYR2	c.3599-9del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237753084del	(Likely) benign	4 labs	397b04710e
16:90001780 TUBB3 C>T	16	90001780	90001780	C	T	TUBB3	c.705C>T	NM_001197181.2	NP_001184110.1:p.(His235=)	NC_000016.9:g.90001780C>T	(Likely) benign	2 labs	39731e9a40
9:133928363 LAMC3 A>G	9	133928363	133928363	A	G	LAMC3	c.1939+11A>G	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133928363A>G	(Likely) benign	2 labs	398aed4a03
2:179581980 TTN C>T	2	179581980	179581980	C	T	TTN	c.25481G>A	NM_001267550.2	NP_001254479.2:p.(Arg8494Gln)	NC_000002.11:g.179581980C>T	(Likely) benign	2 labs	39ed1ba615
2:179396259 TTN G>A	2	179396259	179396259	G	A	TTN	c.105083C>T	NM_001267550.2	NP_001254479.2:p.(Thr35028Met)	NC_000002.11:g.179396259G>A	VUS	3 labs	3a05a4ca8d
4:147179909 SLC10A7 C>T	4	147179909	147179909	C	T	SLC10A7	c.928G>A	NM_001029998.6	NP_001025169.1:p.(Ala310Thr)	NC_000004.11:g.147179909C>T	(Likely) benign	2 labs	3a06b0883f
12:88512352 CEP290 A>G	12	88512352	88512352	A	G	CEP290	c.1624-5T>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88512352A>G	(Likely) benign	2 labs	3a1ed7d10f
1:3102993 PRDM16 G>A	1	3102993	3102993	G	A	PRDM16	c.342G>A	NM_022114.4	NP_071397.3:p.(Val114=)	NC_000001.10:g.3102993G>A	(Likely) benign	2 labs	3a36c4f93f
13:77570156 CLN5 G>A	13	77570156	77570156	G	A	CLN5	c.459G>A	NM_006493.4	NP_006484.2:p.(Met153Ile)	NC_000013.10:g.77570156G>A	(Likely) benign	2 labs	3a3f5fa967
8:145619907 CPSF1 G>A	8	145619907	145619907	G	A	CPSF1	c.3519C>T	NM_013291.3	NP_037423.2:p.(Thr1173=)	NC_000008.10:g.145619907G>A	(Likely) benign	2 labs	3a577cb139
10:48390062 RBP3 G>T	10	48390062	48390062	G	T	RBP3	c.816C>A	NM_002900.3	NP_002891.1:p.(Gly272=)	NC_000010.10:g.48390062G>T	(Likely) benign	2 labs	3a632f8fb1
12:65141588 GNS C>T	12	65141588	65141588	C	T	GNS	c.363G>A	NM_002076.4	NP_002067.1:p.(Lys121=)	NC_000012.11:g.65141588C>T	(Likely) benign	2 labs	3a8dbe3b06
9:119461243 TRIM32 C>T	9	119461243	119461243	C	T	TRIM32	c.1222C>T	NM_012210.4	NP_036342.2:p.(Arg408Cys)	NC_000009.11:g.119461243C>T	VUS	2 labs	3a8ec5d217
2:105984039 FHL2 AAC>A	2	105984039	105984041	AAC	A	FHL2	c.487_488del	NM_201555.2	NP_963849.1:p.(Val163SerfsTer42)	NC_000002.11:g.105984040_105984041del	VUS	2 labs	3abb84b0cd
12:49436872 KMT2D CCTGT>C	12	49436872	49436878	CCTGT	C	KMT2D	c.5627_5630del	NM_003482.4	NP_003473.3:p.(Asp1876GlyfsTer38)	NC_000012.11:g.49436875_49436878del	(Likely) pathogenic	2 labs	3abef15826
16:919937 LMF1 G>A	16	919937	919937	G	A	LMF1	c.963C>T	NM_001352018.2	NP_001338947.1:p.(Leu321=)	NC_000016.9:g.919937G>A	(Likely) benign	2 labs	3abfdf9750
X:39933973 BCOR G>A	X	39933973	39933973	G	A	BCOR	c.626C>T	NM_017745.6	NP_060215.4:p.(Ser209Leu)	NC_000023.10:g.39933973G>A	(Likely) benign	4 labs	3ac1c35b58
5:177031540 B4GALT7 C>T	5	177031540	177031540	C	T	B4GALT7	c.411C>T	NM_007255.3	NP_009186.1:p.(Phe137=)	NC_000005.9:g.177031540C>T	(Likely) benign	3 labs	3ac1e97829
1:236898999 ACTN2 C>T	1	236898999	236898999	C	T	ACTN2	c.27C>T	NM_001278344.2	NP_001265273.1:p.(His9=)	NC_000001.10:g.236898999C>T	(Likely) benign	2 labs	3ac553657c
15:44876125 SPG11 G>T	15	44876125	44876125	G	T	SPG11	c.5753C>A	NM_025137.4	NP_079413.3:p.(Ala1918Asp)	NC_000015.9:g.44876125G>T	VUS	2 labs	3acc6fb56f
16:68842734 CDH1 C>T	16	68842734	68842734	C	T	CDH1	c.670C>T	NM_004360.5	NP_004351.1:p.(Arg224Cys)	NC_000016.9:g.68842734C>T	(Likely) benign	2 labs	3ad4b1f4a7
2:179585220 TTN T>C	2	179585220	179585220	T	C	TTN	c.22318A>G	NM_001256850.1	NP_001243779.1:p.(Thr7440Ala)	NC_000002.11:g.179585220T>C	VUS	2 labs	3b093f3a9c
4:100512442 MTTP A>T	4	100512442	100512442	A	T	MTTP	c.552A>T	NM_000253.4	NP_000244.2:p.(Lys184Asn)	NC_000004.11:g.100512442A>T	(Likely) benign	2 labs	3b11f0ba69
17:33428276 RAD51D C>A	17	33428276	33428276	C	A	RAD51D	c.847G>T	NM_002878.4	NP_002869.3:p.(Gly283Ter)	NC_000017.10:g.33428276C>A	(Likely) pathogenic	2 labs	3b37de6e39
12:994953 WNK1 T>C	12	994953	994953	T	C	WNK1	c.5763T>C	NM_001184985.2	NP_001171914.1:p.(Ser1921=)	NC_000012.11:g.994953T>C	(Likely) benign	3 labs	3b3b73107f
18:34174806 FHOD3 G>A	18	34174806	34174806	G	A	FHOD3	c.663G>A	NM_001281740.3	NP_001268669.1:p.(Ser221=)	NC_000018.9:g.34174806G>A	(Likely) benign	2 labs	3b425832a3
6:146007332 EPM2A C>T	6	146007332	146007332	C	T	EPM2A	c.402G>A	NM_005670.4	NP_005661.1:p.(Gly134=)	NC_000006.11:g.146007332C>T	(Likely) benign	2 labs	3b96234600
16:3808052 CREBBP T>TA	16	3808052	3808065	T	TA	CREBBP	c.3370-4dup	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3808065dup	(Likely) benign	3 labs	3b6b762179
3:52437258 BAP1 T>C	3	52437258	52437258	T	C	BAP1	c.1786A>G	NM_004656.4	NP_004647.1:p.(Ser596Gly)	NC_000003.11:g.52437258T>C	(Likely) benign	2 labs	3bbe70a998
2:220285394 DES C>T	2	220285394	220285394	C	T	DES	c.897+16C>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285394C>T	(Likely) benign	2 labs	3bd00d5127
10:53921663 PRKG1 T>C	10	53921663	53921663	T	C	PRKG1	c.971T>C	NM_001098512.3	NP_001091982.1:p.(Leu324Ser)	NC_000010.10:g.53921663T>C	VUS	3 labs	3bff3580ec
20:742237 SLC52A3 G>A	20	742237	742237	G	A	SLC52A3	c.1197+108C>T	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.742237G>A	(Likely) benign	2 labs	3c51a60681
7:116419023 MET G>T	7	116419023	116419023	G	T	MET	c.3576+12G>T	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116419023G>T	(Likely) benign	2 labs	3c5a19ff80
8:100519980 VPS13B C>T	8	100519980	100519980	C	T	VPS13B	c.4158-18C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100519980C>T	(Likely) benign	2 labs	3c870231df
5:112178164 APC A>T	5	112178164	112178164	A	T	APC	c.6873A>T	NM_000038.6	NP_000029.2:p.(Gln2291His)	NC_000005.9:g.112178164A>T	(Likely) benign	3 labs	3c8ae88073
11:47372096 MYBPC3 C>T	11	47372096	47372096	C	T	MYBPC3	c.363G>A	NM_000256.3	NP_000247.2:p.(Pro121=)	NC_000011.9:g.47372096C>T	(Likely) benign	2 labs	3cbe3fa405
19:48342562 CRX G>A	19	48342562	48342562	G	A	CRX	c.253-15G>A	NM_000554.6	NP_000545.1:p.?	NC_000019.9:g.48342562G>A	(Likely) benign	2 labs	3cc712c2d0
22:19951742 COMT A>T	22	19951742	19951742	A	T	COMT	c.535A>T	NM_001362828.2	NP_001349757.1:p.(Lys179Ter)	NC_000022.10:g.19951742A>T	VUS	2 labs	3cdb8d011e
18:19383966 MIB1 C>T	18	19383966	19383966	C	T	MIB1	c.1470C>T	NM_020774.4	NP_065825.1:p.(Val490=)	NC_000018.9:g.19383966C>T	(Likely) benign	4 labs	3ce76ac847
15:63335055 TPM1 G>A	15	63335055	63335055	G	A	TPM1	c.27G>A	NM_001365776.1	NP_001352705.1:p.(Gln9=)	NC_000015.9:g.63335055G>A	(Likely) benign	2 labs	3cea099d52
16:50827518 CYLD C>T	16	50827518	50827518	C	T	CYLD	c.2412C>T	NM_015247.3	NP_056062.1:p.(Asp804=)	NC_000016.9:g.50827518C>T	(Likely) benign	2 labs	3d11c75f2e
12:48369769 COL2A1 G>A	12	48369769	48369769	G	A	COL2A1	c.3574C>T	NM_001844.5	NP_001835.3:p.(Arg1192Ter)	NC_000012.11:g.48369769G>A	(Likely) pathogenic	2 labs	3d32fe08d4
22:41903960 ACO2 C>T	22	41903960	41903960	C	T	ACO2	c.339C>T	NM_001098.3	NP_001089.1:p.(Ser113=)	NC_000022.10:g.41903960C>T	(Likely) benign	2 labs	3d49b6e003
2:179612800 TTN A>G	2	179612800	179612800	A	G	TTN	c.14327T>C	NM_133379.5	NP_596870.2:p.(Leu4776Ser)	NC_000002.11:g.179612800A>G	(Likely) benign	2 labs	3d51174695
2:73676008 ALMS1 A>G	2	73676008	73676008	A	G	ALMS1	c.2357A>G	NM_015120.4	NP_055935.4:p.(Glu786Gly)	NC_000002.11:g.73676008A>G	(Likely) benign	3 labs	3d518479af
9:138664718 KCNT1 G>A	9	138664718	138664718	G	A	KCNT1	c.2031G>A	NM_001272003.2	NP_001258932.1:p.(Leu677=)	NC_000009.11:g.138664718G>A	(Likely) benign	3 labs	3d57b28c6e
11:124767126 ROBO4 G>T	11	124767126	124767126	G	T	ROBO4	c.102C>A	NM_019055.6	NP_061928.4:p.(Ile34=)	NC_000011.9:g.124767126G>T	(Likely) benign	2 labs	3d9aea920f
19:4110552 MAP2K2 C>G	19	4110552	4110552	C	G	MAP2K2	c.405G>C	NM_030662.4	NP_109587.1:p.(Gly135=)	NC_000019.9:g.4110552C>G	(Likely) benign	2 labs	3db3df7d5b
X:153278550 IRAK1 G>A	X	153278550	153278550	G	A	IRAK1	c.1874C>T	NM_001569.4	NP_001560.2:p.(Thr625Met)	NC_000023.10:g.153278550G>A	(Likely) benign	3 labs	3dc2580f04
2:48026898 MSH6 A>T	2	48026898	48026898	A	T	MSH6	c.1776A>T	NM_000179.3	NP_000170.1:p.(Val592=)	NC_000002.11:g.48026898A>T	(Likely) benign	3 labs	3dc3fa63b5
10:86007450 RGR G>A	10	86007450	86007450	G	A	RGR	c.183G>A	NM_002921.4	NP_002912.2:p.(Ala61=)	NC_000010.10:g.86007450G>A	(Likely) benign	2 labs	3e011b1405
13:48916860 RB1 C>G	13	48916860	48916860	C	G	RB1	c.380+10C>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48916860C>G	(Likely) benign	2 labs	3e164dbe17
2:179611851 TTN C>T	2	179611851	179611851	C	T	TTN	c.15276G>A	NM_133379.5	NP_596870.2:p.(Leu5092=)	NC_000002.11:g.179611851C>T	(Likely) benign	2 labs	3e782f7f37
8:68062182 CSPP1 CTTT>C	8	68062182	68062206	CTTT	C	CSPP1	c.1079-4055_1079-4053del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062204_68062206del	(Likely) benign	2 labs	3eb168cc65
2:179510636 TTN G>GCATT	2	179510636	179510640	G	GCATT	TTN	c.40408+7_40408+10dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179510637_179510640dup	(Likely) benign	2 labs	3ebe5cc32e
1:2234824 SKI C>T	1	2234824	2234824	C	T	SKI	c.1196C>T	NM_003036.4	NP_003027.1:p.(Ala399Val)	NC_000001.10:g.2234824C>T	(Likely) benign	2 labs	3ec6e15304
11:108139303 ATM G>C	11	108139303	108139303	G	C	ATM	c.2805G>C	NM_000051.4	NP_000042.3:p.(Thr935=)	NC_000011.9:g.108139303G>C	(Likely) benign	6 labs	3ed0d20278
13:110861199 COL4A1 G>A	13	110861199	110861199	G	A	COL4A1	c.690C>T	NM_001845.6	NP_001836.3:p.(Asp230=)	NC_000013.10:g.110861199G>A	(Likely) benign	2 labs	3ef56c0bf5
19:11215893 LDLR C>T	19	11215893	11215893	C	T	LDLR	c.314-3C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215893C>T	VUS	2 labs	3ef60c61ac
3:53845340 CACNA1D G>A	3	53845340	53845340	G	A	CACNA1D	c.6453G>A	NM_000720.4	NP_000711.1:p.(Gln2151=)	NC_000003.11:g.53845340G>A	(Likely) benign	2 labs	3f0d2f0b9a
19:11221396 LDLR G>A	19	11221396	11221396	G	A	LDLR	c.1009G>A	NM_000527.5	NP_000518.1:p.(Glu337Lys)	NC_000019.9:g.11221396G>A	VUS	2 labs	3f14ad2ac6
15:72144522 MYO9A G>C	15	72144522	72144522	G	C	MYO9A	c.6426C>G	NM_006901.4	NP_008832.2:p.(Pro2142=)	NC_000015.9:g.72144522G>C	(Likely) benign	2 labs	3f1687a2a2
7:65546812 ASL G>A	7	65546812	65546812	G	A	ASL	c.35G>A	NM_001024943.2	NP_001020114.1:p.(Arg12Gln)	NC_000007.13:g.65546812G>A	(Likely) pathogenic	2 labs	3f44d3ba2f
22:19753449 TBX1 A>G	22	19753449	19753449	A	G	TBX1	c.933A>G	NM_080647.1	NP_542378.1:p.(Ala311=)	NC_000022.10:g.19753449A>G	(Likely) benign	4 labs	3f4ff75aec
1:3329167 PRDM16 G>A	1	3329167	3329167	G	A	PRDM16	c.2406G>A	NM_022114.4	NP_071397.3:p.(Pro802=)	NC_000001.10:g.3329167G>A	(Likely) benign	3 labs	3f69717715
13:32911053 BRCA2 A>G	13	32911053	32911053	A	G	BRCA2	c.2561A>G	NM_000059.4	NP_000050.3:p.(Asn854Ser)	NC_000013.10:g.32911053A>G	(Likely) benign	2 labs	3f71370d6f
1:5935064 NPHP4 T>C	1	5935064	5935064	T	C	NPHP4	c.2914A>G	NM_015102.5	NP_055917.1:p.(Ser972Gly)	NC_000001.10:g.5935064T>C	(Likely) benign	3 labs	3f74896301
2:21263905 APOB C>A	2	21263905	21263905	C	A	APOB	c.288G>T	NM_000384.3	NP_000375.3:p.(Gln96His)	NC_000002.11:g.21263905C>A	(Likely) benign	2 labs	3f841883c9
1:156834596 NTRK1 G>T	1	156834596	156834596	G	T	NTRK1	c.359+5G>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156834596G>T	(Likely) pathogenic	2 labs	3f89108f3a
9:35710818 TLN1 C>T	9	35710818	35710818	C	T	TLN1	c.4179G>A	NM_006289.4	NP_006280.3:p.(Leu1393=)	NC_000009.11:g.35710818C>T	(Likely) benign	2 labs	3fbb273c1c
11:71152447 DHCR7 C>T	11	71152447	71152447	C	T	DHCR7	c.452G>A	NM_001360.3	NP_001351.2:p.(Trp151Ter)	NC_000011.9:g.71152447C>T	(Likely) pathogenic	5 labs	3fbcc27978
13:32912386 BRCA2 T>A	13	32912386	32912386	T	A	BRCA2	c.3894T>A	NM_000059.4	NP_000050.3:p.(Ile1298=)	NC_000013.10:g.32912386T>A	(Likely) benign	2 labs	3fbda559b2
2:179457527 TTN C>T	2	179457527	179457527	C	T	TTN	c.59319G>A	NM_001267550.2	NP_001254479.2:p.(Glu19773=)	NC_000002.11:g.179457527C>T	(Likely) benign	3 labs	3fc447f8b3
15:91334069 BLM T>C	15	91334069	91334069	T	C	BLM	c.3014T>C	NM_000057.4	NP_000048.1:p.(Ile1005Thr)	NC_000015.9:g.91334069T>C	VUS	2 labs	3fdee26f9a
17:48247689 SGCA C>T	17	48247689	48247689	C	T	SGCA	c.933C>T	NM_000023.4	NP_000014.1:p.(Val311=)	NC_000017.10:g.48247689C>T	(Likely) benign	2 labs	3fea90e6fe
16:57973431 CNGB1 G>C	16	57973431	57973431	G	C	CNGB1	c.1275C>G	NM_001297.5	NP_001288.3:p.(Ala425=)	NC_000016.9:g.57973431G>C	(Likely) benign	2 labs	3ffce4b02d
15:52672051 MYO5A G>C	15	52672051	52672051	G	C	MYO5A	c.2067C>G	NM_000259.3	NP_000250.3:p.(Thr689=)	NC_000015.9:g.52672051G>C	(Likely) benign	2 labs	4009535926
2:73676070 ALMS1 G>C	2	73676070	73676070	G	C	ALMS1	c.2419G>C	NM_015120.4	NP_055935.4:p.(Val807Leu)	NC_000002.11:g.73676070G>C	(Likely) benign	2 labs	40667bb22a
11:108202275 ATM C>T	11	108202275	108202275	C	T	ATM	c.7620C>T	NM_000051.4	NP_000042.3:p.(Val2540=)	NC_000011.9:g.108202275C>T	(Likely) benign	4 labs	40737e10f4
10:72360140 PRF1 C>T	10	72360140	72360140	C	T	PRF1	c.519G>A	NM_001083116.3	NP_001076585.1:p.(Thr173=)	NC_000010.10:g.72360140C>T	(Likely) benign	3 labs	4084555986
9:2647561 VLDLR G>A	9	2647561	2647561	G	A	VLDLR	c.1791G>A	NM_003383.5	NP_003374.3:p.(Ala597=)	NC_000009.11:g.2647561G>A	(Likely) benign	2 labs	408db6b7ec
6:7584060 DSP C>T	6	7584060	7584060	C	T	DSP	c.6565C>T	NM_004415.4	NP_004406.2:p.(Arg2189Trp)	NC_000006.11:g.7584060C>T	VUS	2 labs	40d57818cf
X:153583258 FLNA C>T	X	153583258	153583258	C	T	FLNA	c.5152G>A	NM_001110556.2	NP_001104026.1:p.(Gly1718Ser)	NC_000023.10:g.153583258C>T	VUS	2 labs	412f520ece
14:105172529 INF2 C>T	14	105172529	105172529	C	T	INF2	c.843+16C>T	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105172529C>T	(Likely) benign	2 labs	414c59e118
19:50334148 MED25 G>A	19	50334148	50334148	G	A	MED25	c.1101+4G>A	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50334148G>A	(Likely) benign	2 labs	416ac8d6c7
6:41127543 TREM2 G>A	6	41127543	41127543	G	A	TREM2	c.469C>T	NM_018965.4	NP_061838.1:p.(His157Tyr)	NC_000006.11:g.41127543G>A	(Likely) benign	2 labs	419e66014f
12:57961298 KIF5A G>A	12	57961298	57961298	G	A	KIF5A	c.611G>A	NM_004984.4	NP_004975.2:p.(Arg204Gln)	NC_000012.11:g.57961298G>A	(Likely) pathogenic	2 labs	41b7906dea
3:9483895 SETD5 G>A	3	9483895	9483895	G	A	SETD5	c.749G>A	NM_001349451.2	NP_001336380.1:p.(Arg250Gln)	NC_000003.11:g.9483895G>A	(Likely) pathogenic	3 labs	41b82c433f
13:32912144 BRCA2 G>A	13	32912144	32912144	G	A	BRCA2	c.3652G>A	NM_000059.4	NP_000050.3:p.(Gly1218Ser)	NC_000013.10:g.32912144G>A	(Likely) benign	2 labs	41ef075411
13:37580139 EXOSC8 G>A	13	37580139	37580139	G	A	EXOSC8	c.321G>A	NM_181503.3	NP_852480.1:p.(Gln107=)	NC_000013.10:g.37580139G>A	(Likely) benign	2 labs	420a32d970
13:20763341 GJB2 C>T	13	20763341	20763341	C	T	GJB2	c.380G>A	NM_004004.6	NP_003995.2:p.(Arg127His)	NC_000013.10:g.20763341C>T	(Likely) benign	3 labs	422d6b6d61
2:29287813 PCARE C>T	2	29287813	29287813	C	T	PCARE	c.3789G>A	NM_001029883.3	NP_001025054.1:p.(Leu1263=)	NC_000002.11:g.29287813C>T	(Likely) benign	2 labs	4244e9d8c5
21:47410275 COL6A1 G>A	21	47410275	47410275	G	A	COL6A1	c.958-17G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410275G>A	(Likely) benign	2 labs	426cfc5652
X:38156584 RPGR T>C	X	38156584	38156584	T	C	RPGR	c.1367A>G	NM_001034853.2	NP_001030025.1:p.(Gln456Arg)	NC_000023.10:g.38156584T>C	(Likely) benign	4 labs	427db2b66f
6:112508694 LAMA4 A>G	6	112508694	112508694	A	G	LAMA4	c.924T>C	NM_001105206.3	NP_001098676.2:p.(His308=)	NC_000006.11:g.112508694A>G	(Likely) benign	5 labs	428cd99091
19:33892607 PEPD C>G	19	33892607	33892607	C	G	PEPD	c.967+20G>C	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33892607C>G	(Likely) benign	2 labs	428c40a102
9:131343207 SPTAN1 G>A	9	131343207	131343207	G	A	SPTAN1	c.1330G>A	NM_001363759.2	NP_001350688.1:p.(Val444Ile)	NC_000009.11:g.131343207G>A	(Likely) benign	3 labs	42933dcff2
14:23869993 MYH6 G>A	14	23869993	23869993	G	A	MYH6	c.1335C>T	NM_002471.4	NP_002462.2:p.(Asn445=)	NC_000014.8:g.23869993G>A	(Likely) benign	3 labs	42bf3e8af1
X:118603925 SLC25A5 G>A	X	118603925	118603925	G	A	SLC25A5	c.413G>A	NM_001152.5	NP_001143.2:p.(Arg138His)	NC_000023.10:g.118603925G>A	(Likely) benign	2 labs	42d78ac215
22:50660301 TUBGCP6 G>C	22	50660301	50660301	G	C	TUBGCP6	c.2487C>G	NM_020461.4	NP_065194.3:p.(Val829=)	NC_000022.10:g.50660301G>C	(Likely) benign	2 labs	42e3b9fa56
4:126238694 FAT4 G>A	4	126238694	126238694	G	A	FAT4	c.1128G>A	NM_001291303.3	NP_001278232.1:p.(Val376=)	NC_000004.11:g.126238694G>A	(Likely) benign	2 labs	43064b89cf
16:49669694 ZNF423 G>A	16	49669694	49669694	G	A	ZNF423	c.3189C>T	NM_001271620.2	NP_001258549.1:p.(Pro1063=)	NC_000016.9:g.49669694G>A	(Likely) benign	3 labs	43149c3144
3:129251131 RHO G>A	3	129251131	129251131	G	A	RHO	c.568G>A	NM_000539.3	NP_000530.1:p.(Asp190Asn)	NC_000003.11:g.129251131G>A	(Likely) pathogenic	3 labs	4319055bdb
7:92123793 PEX1 A>G	7	92123793	92123793	A	G	PEX1	c.2302+8T>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92123793A>G	(Likely) benign	2 labs	4319e5667c
1:26393843 TRIM63 G>A	1	26393843	26393843	G	A	TRIM63	c.143C>T	NM_032588.4	NP_115977.2:p.(Ala48Val)	NC_000001.10:g.26393843G>A	(Likely) benign	3 labs	432c87dd95
18:28654750 DSC2 G>A	18	28654750	28654750	G	A	DSC2	c.1787C>T	NM_004949.5	NP_004940.1:p.(Ala596Val)	NC_000018.9:g.28654750G>A	(Likely) benign	4 labs	432fa1defd
13:32913062 BRCA2 T>G	13	32913062	32913062	T	G	BRCA2	c.4570T>G	NM_000059.4	NP_000050.3:p.(Phe1524Val)	NC_000013.10:g.32913062T>G	(Likely) benign	4 labs	43324ea203
13:32911972 BRCA2 A>G	13	32911972	32911972	A	G	BRCA2	c.3480A>G	NM_000059.4	NP_000050.3:p.(Arg1160=)	NC_000013.10:g.32911972A>G	(Likely) benign	2 labs	436b470243
9:135773000 TSC1 G>GAAA	9	135773000	135773018	G	GAAA	TSC1	c.2626-6_2626-4dup	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773016_135773018dup	(Likely) benign	3 labs	43cfd983ad
8:38282208 FGFR1 G>C	8	38282208	38282208	G	C	FGFR1	c.755C>G	NM_023110.3	NP_075598.2:p.(Pro252Arg)	NC_000008.10:g.38282208G>C	(Likely) pathogenic	3 labs	43ec836d9d
2:27681665 IFT172 C>T	2	27681665	27681665	C	T	IFT172	c.2858G>A	NM_015662.3	NP_056477.1:p.(Arg953His)	NC_000002.11:g.27681665C>T	(Likely) benign	2 labs	43ed05933d
10:75832614 VCL C>T	10	75832614	75832614	C	T	VCL	c.622+4C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75832614C>T	(Likely) benign	3 labs	43f1b9d5de
3:148899775 CP C>T	3	148899775	148899775	C	T	CP	c.2554+17G>A	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148899775C>T	(Likely) benign	2 labs	43f72d7d8a
6:42975698 PPP2R5D A>C	6	42975698	42975698	A	C	PPP2R5D	c.752A>C	NM_006245.4	NP_006236.1:p.(Asp251Ala)	NC_000006.11:g.42975698A>C	(Likely) pathogenic	2 labs	43fc04accf
2:179514313 TTN G>T	2	179514313	179514313	G	T	TTN	c.39941C>A	NM_001267550.2	NP_001254479.2:p.(Thr13314Asn)	NC_000002.11:g.179514313G>T	(Likely) benign	2 labs	43fedd200d
2:179514998 TTN A>G	2	179514998	179514998	A	G	TTN	c.39710T>C	NM_001267550.2	NP_001254479.2:p.(Val13237Ala)	NC_000002.11:g.179514998A>G	VUS	2 labs	442ee1a8d5
17:6330327 AIPL1 A>G	17	6330327	6330327	A	G	AIPL1	c.516T>C	NM_014336.5	NP_055151.3:p.(His172=)	NC_000017.10:g.6330327A>G	(Likely) benign	3 labs	4439b374dd
1:78401691 NEXN C>T	1	78401691	78401691	C	T	NEXN	c.1435C>T	NM_144573.4	NP_653174.3:p.(Leu479Phe)	NC_000001.10:g.78401691C>T	(Likely) benign	3 labs	445089cd7e
2:202591607 ALS2 C>T	2	202591607	202591607	C	T	ALS2	c.2980-18G>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202591607C>T	(Likely) benign	2 labs	447a072354
1:237777417 RYR2 C>T	1	237777417	237777417	C	T	RYR2	c.4989C>T	NM_001035.3	NP_001026.2:p.(Ala1663=)	NC_000001.10:g.237777417C>T	(Likely) benign	2 labs	4485f86816
11:2466535 KCNQ1 G>T	11	2466535	2466535	G	T	KCNQ1	c.207G>T	NM_000218.3	NP_000209.2:p.(Ala69=)	NC_000011.9:g.2466535G>T	(Likely) benign	4 labs	4489848844
9:2643293 VLDLR C>T	9	2643293	2643293	C	T	VLDLR	c.582C>T	NM_001018056.3	NP_001018066.1:p.(Gly194=)	NC_000009.11:g.2643293C>T	(Likely) benign	2 labs	4493a0edc0
5:180048651 FLT4 G>C	5	180048651	180048651	G	C	FLT4	c.1911C>G	NM_182925.5	NP_891555.2:p.(Ser637Arg)	NC_000005.9:g.180048651G>C	(Likely) benign	2 labs	44cb795a35
2:179610477 TTN A>G	2	179610477	179610477	A	G	TTN	c.16650T>C	NM_133379.5	NP_596870.2:p.(Asp5550=)	NC_000002.11:g.179610477A>G	(Likely) benign	3 labs	44cc64dd84
6:72961043 RIMS1 T>C	6	72961043	72961043	T	C	RIMS1	c.2670T>C	NM_014989.6	NP_055804.2:p.(His890=)	NC_000006.11:g.72961043T>C	(Likely) benign	2 labs	44d24abc5f
14:23888836 MYH7 G>A	14	23888836	23888836	G	A	MYH7	c.3727-18C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888836G>A	(Likely) benign	2 labs	44dc107ee8
6:43488700 POLR1C G>A	6	43488700	43488700	G	A	POLR1C	c.836G>A	NM_203290.4	NP_976035.1:p.(Arg279Gln)	NC_000006.11:g.43488700G>A	(Likely) pathogenic	3 labs	44e0b488da
9:139391737 NOTCH1 C>G	9	139391737	139391737	C	G	NOTCH1	c.6454G>C	NM_017617.5	NP_060087.3:p.(Gly2152Arg)	NC_000009.11:g.139391737C>G	(Likely) benign	3 labs	44e7ae3a05
10:94409596 KIF11 G>A	10	94409596	94409596	G	A	KIF11	c.2775G>A	NM_004523.4	NP_004514.2:p.(Thr925=)	NC_000010.10:g.94409596G>A	(Likely) benign	2 labs	44f7878b75
1:17331211 ATP13A2 G>A	1	17331211	17331211	G	A	ATP13A2	c.453C>T	NM_022089.4	NP_071372.1:p.(Ser151=)	NC_000001.10:g.17331211G>A	(Likely) benign	2 labs	44ffde0cb4
5:82836373 VCAN C>T	5	82836373	82836373	C	T	VCAN	c.7551C>T	NM_004385.5	NP_004376.2:p.(Asp2517=)	NC_000005.9:g.82836373C>T	(Likely) benign	2 labs	45044abae8
4:128842000 MFSD8 G>A	4	128842000	128842000	G	A	MFSD8	c.1351-9C>T	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128842000G>A	(Likely) benign	2 labs	4512952c30
2:179613147 TTN G>C	2	179613147	179613147	G	C	TTN	c.13980C>G	NM_133379.5	NP_596870.2:p.(His4660Gln)	NC_000002.11:g.179613147G>C	(Likely) benign	3 labs	4524f3747f
7:128480178 FLNC G>A	7	128480178	128480178	G	A	FLNC	c.1513G>A	NM_001458.5	NP_001449.3:p.(Gly505Ser)	NC_000007.13:g.128480178G>A	VUS	2 labs	452eec3c31
8:1904983 ARHGEF10 C>T	8	1904983	1904983	C	T	ARHGEF10	c.3661C>T	NM_001308153.2	NP_001295082.1:p.(His1221Tyr)	NC_000008.10:g.1904983C>T	(Likely) benign	2 labs	4533756dd5
8:61778448 CHD7 C>T	8	61778448	61778448	C	T	CHD7	c.8950C>T	NM_017780.4	NP_060250.2:p.(Leu2984Phe)	NC_000008.10:g.61778448C>T	(Likely) benign	5 labs	4536bce37b
2:1670101 PXDN C>A	2	1670101	1670101	C	A	PXDN	c.1176G>T	NM_012293.3	NP_036425.1:p.(Thr392=)	NC_000002.11:g.1670101C>A	(Likely) benign	2 labs	453977adc9
6:65300145 EYS A>G	6	65300145	65300145	A	G	EYS	c.5615T>C	NM_001292009.2	NP_001278938.1:p.(Ile1872Thr)	NC_000006.11:g.65300145A>G	(Likely) benign	2 labs	453adbb750
14:102502958 DYNC1H1 C>T	14	102502958	102502958	C	T	DYNC1H1	c.10887C>T	NM_001376.5	NP_001367.2:p.(Phe3629=)	NC_000014.8:g.102502958C>T	(Likely) benign	3 labs	453b4db8b6
7:81579832 CACNA2D1 TA>T	7	81579832	81579842	TA	T	CACNA2D1	c.3160-9del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81579842del	(Likely) benign	2 labs	4546429235
2:170354138 BBS5 G>A	2	170354138	170354138	G	A	BBS5	c.620G>A	NM_152384.3	NP_689597.1:p.(Arg207His)	NC_000002.11:g.170354138G>A	(Likely) benign	2 labs	45467968fc
3:167508341 SERPINI1 T>C	3	167508341	167508341	T	C	SERPINI1	c.432T>C	NM_005025.5	NP_005016.1:p.(Asn144=)	NC_000003.11:g.167508341T>C	(Likely) benign	2 labs	4582885f40
7:128482948 FLNC C>T	7	128482948	128482948	C	T	FLNC	c.2490C>T	NM_001458.5	NP_001449.3:p.(Thr830=)	NC_000007.13:g.128482948C>T	(Likely) benign	3 labs	458a55be3f
12:32955485 PKP2 C>T	12	32955485	32955485	C	T	PKP2	c.2151G>A	NM_004572.4	NP_004563.2:p.(Pro717=)	NC_000012.11:g.32955485C>T	(Likely) benign	2 labs	45972e6fb1
3:178952085 PIK3CA A>T	3	178952085	178952085	A	T	PIK3CA	c.3140A>T	NM_006218.4	NP_006209.2:p.(His1047Leu)	NC_000003.11:g.178952085A>T	(Likely) pathogenic	2 labs	45c2197250
4:170429402 NEK1 T>C	4	170429402	170429402	T	C	NEK1	c.1830A>G	NM_001199397.3	NP_001186326.1:p.(Glu610=)	NC_000004.11:g.170429402T>C	(Likely) benign	2 labs	45d78ef3f2
2:179407862 TTN G>A	2	179407862	179407862	G	A	TTN	c.96838C>T	NM_001267550.2	NP_001254479.2:p.(Gln32280Ter)	NC_000002.11:g.179407862G>A	(Likely) pathogenic	2 labs	45db67a027
3:148924064 CP G>A	3	148924064	148924064	G	A	CP	c.1099C>T	NM_000096.4	NP_000087.2:p.(Arg367Cys)	NC_000003.11:g.148924064G>A	(Likely) benign	2 labs	4676cac6e5
2:215657037 BARD1 A>G	2	215657037	215657037	A	G	BARD1	c.348T>C	NM_000465.4	NP_000456.2:p.(His116=)	NC_000002.11:g.215657037A>G	(Likely) benign	2 labs	468254eccc
9:139403532 NOTCH1 G>A	9	139403532	139403532	G	A	NOTCH1	c.2970-9C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139403532G>A	(Likely) benign	3 labs	46b77ee399
11:8060574 TUB C>T	11	8060574	8060574	C	T	TUB	c.154C>T	NM_003320.5	NP_003311.2:p.(Arg52Trp)	NC_000011.9:g.8060574C>T	(Likely) benign	2 labs	46ca9b310e
14:23884925 MYH7 G>C	14	23884925	23884925	G	C	MYH7	c.5070C>G	NM_000257.4	NP_000248.2:p.(Ala1690=)	NC_000014.8:g.23884925G>C	(Likely) benign	2 labs	46d1065203
2:47389467 CALM2 G>A	2	47389467	47389467	G	A	CALM2	c.135C>T	NM_001305626.1	NP_001292555.1:p.(Asp45=)	NC_000002.11:g.47389467G>A	(Likely) benign	2 labs	46e0999a41
16:88498076 ZNF469 C>A	16	88498076	88498076	C	A	ZNF469	c.4198C>A	NM_001367624.2	NP_001354553.1:p.(Pro1400Thr)	NC_000016.9:g.88498076C>A	(Likely) benign	2 labs	46f75f8d11
6:43012621 CUL7 A>C	6	43012621	43012621	A	C	CUL7	c.3137T>G	NM_001168370.2	NP_001161842.2:p.(Leu1046Arg)	NC_000006.11:g.43012621A>C	(Likely) pathogenic	2 labs	46fdd0132f
5:112111353 APC A>G	5	112111353	112111353	A	G	APC	c.450A>G	NM_000038.6	NP_000029.2:p.(Lys150=)	NC_000005.9:g.112111353A>G	(Likely) benign	3 labs	47147d1421
3:123453084 MYLK G>C	3	123453084	123453084	G	C	MYLK	c.774-15C>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123453084G>C	(Likely) benign	2 labs	472f3d438e
8:103250790 RRM2B G>C	8	103250790	103250790	G	C	RRM2B	c.261C>G	NM_001172477.1	NP_001165948.1:p.(Ala87=)	NC_000008.10:g.103250790G>C	(Likely) benign	3 labs	476bfe8005
17:41228444 BRCA1 C>A	17	41228444	41228444	C	A	BRCA1	c.4484+61G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41228444C>A	(Likely) benign	2 labs	476c14ca0c
7:39990716 CDK13 T>TG	7	39990716	39990724	T	TG	CDK13	c.484dup	NM_003718.5	NP_003709.3:p.(Ala162GlyfsTer108)	NC_000007.13:g.39990724dup	(Likely) pathogenic	2 labs	47adfdd970
18:48573644 SMAD4 A>G	18	48573644	48573644	A	G	SMAD4	c.228A>G	NM_005359.6	NP_005350.1:p.(Arg76=)	NC_000018.9:g.48573644A>G	(Likely) benign	2 labs	47c105f994
16:81819676 PLCG2 A>T	16	81819676	81819676	A	T	PLCG2	c.82A>T	NM_002661.5	NP_002652.2:p.(Met28Leu)	NC_000016.9:g.81819676A>T	(Likely) benign	3 labs	47cc1d036b
2:179473402 TTN TTA>T	2	179473402	179473404	TTA	T	TTN	c.52334_52335del	NM_001267550.2	NP_001254479.2:p.(Val17445GlufsTer3)	NC_000002.11:g.179473403_179473404del	(Likely) pathogenic	2 labs	47e3901a6b
14:51094859 ATL1 G>A	14	51094859	51094859	G	A	ATL1	c.1230G>A	NM_001127713.1	NP_001121185.1:p.(Gly410=)	NC_000014.8:g.51094859G>A	(Likely) benign	2 labs	47e72672cd
6:56328406 DST G>A	6	56328406	56328406	G	A	DST	c.16487C>T	NM_001144769.5	NP_001138241.1:p.(Ala5496Val)	NC_000006.11:g.56328406G>A	(Likely) benign	3 labs	47e87d674e
13:52516568 ATP7B T>C	13	52516568	52516568	T	C	ATP7B	c.3366A>G	NM_000053.4	NP_000044.2:p.(Ala1122=)	NC_000013.10:g.52516568T>C	(Likely) benign	2 labs	480b6e63a1
16:23647641 PALB2 T>C	16	23647641	23647641	T	C	PALB2	c.226A>G	NM_024675.4	NP_078951.2:p.(Ile76Val)	NC_000016.9:g.23647641T>C	(Likely) benign	2 labs	48471e7cf1
8:38271301 FGFR1 G>A	8	38271301	38271301	G	A	FGFR1	c.2284C>T	NM_001174064.2	NP_001167535.1:p.(Pro762Ser)	NC_000008.10:g.38271301G>A	(Likely) benign	2 labs	4853ab6a14
15:66777438 MAP2K1 C>G	15	66777438	66777438	C	G	MAP2K1	c.804C>G	NM_002755.4	NP_002746.1:p.(Ala268=)	NC_000015.9:g.66777438C>G	(Likely) benign	2 labs	4860017831
14:23858711 MYH6 G>A	14	23858711	23858711	G	A	MYH6	c.3869C>T	NM_002471.4	NP_002462.2:p.(Ala1290Val)	NC_000014.8:g.23858711G>A	VUS	2 labs	487f2865c4
8:19810847 LPL T>C	8	19810847	19810847	T	C	LPL	c.456T>C	NM_000237.3	NP_000228.1:p.(Asn152=)	NC_000008.10:g.19810847T>C	(Likely) benign	2 labs	488e9e8911
12:27832582 PPFIBP1 G>A	12	27832582	27832582	G	A	PPFIBP1	c.1784+10G>A	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27832582G>A	(Likely) benign	2 labs	4896d6f357
8:117868531 RAD21 TAA>T	8	117868531	117868554	TAA	T	RAD21	c.815-6_815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868553_117868554del	(Likely) benign	3 labs	48cad57874
6:116720487 DSE C>T	6	116720487	116720487	C	T	DSE	c.74C>T	NM_013352.4	NP_037484.1:p.(Thr25Ile)	NC_000006.11:g.116720487C>T	(Likely) benign	2 labs	48fbc51bfe
20:25282944 ABHD12 A>G	20	25282944	25282944	A	G	ABHD12	c.1068T>C	NM_001042472.3	NP_001035937.1:p.(Asp356=)	NC_000020.10:g.25282944A>G	(Likely) benign	2 labs	4907374874
21:44839786 SIK1 G>C	21	44839786	44839786	G	C	SIK1	c.1072C>G	NM_173354.5	NP_775490.2:p.(Pro358Ala)	NC_000021.8:g.44839786G>C	(Likely) benign	2 labs	49274a920a
13:32944659 BRCA2 G>A	13	32944659	32944659	G	A	BRCA2	c.8452G>A	NM_000059.4	NP_000050.3:p.(Val2818Ile)	NC_000013.10:g.32944659G>A	(Likely) benign	2 labs	497f8f3b00
18:29126052 DSG2 A>G	18	29126052	29126052	A	G	DSG2	c.2703A>G	NM_001943.5	NP_001934.2:p.(Lys901=)	NC_000018.9:g.29126052A>G	(Likely) benign	3 labs	495646d928
7:50530987 DDC C>T	7	50530987	50530987	C	T	DDC	c.1385G>A	NM_001082971.2	NP_001076440.2:p.(Arg462Gln)	NC_000007.13:g.50530987C>T	(Likely) benign	3 labs	4958780bae
2:128415109 LIMS2 G>A	2	128415109	128415109	G	A	LIMS2	c.24C>T	NM_001161404.2	NP_001154876.1:p.(Ala8=)	NC_000002.11:g.128415109G>A	(Likely) benign	2 labs	4998337c26
17:36493534 GPR179 C>T	17	36493534	36493534	C	T	GPR179	c.973G>A	NM_001004334.4	NP_001004334.3:p.(Gly325Arg)	NC_000017.10:g.36493534C>T	VUS	2 labs	49a073104e
2:233194516 DIS3L2 T>C	2	233194516	233194516	T	C	DIS3L2	c.1740-7T>C	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233194516T>C	(Likely) benign	2 labs	49b277c539
12:110236721 TRPV4 C>T	12	110236721	110236721	C	T	TRPV4	c.854-4G>A	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110236721C>T	(Likely) benign	3 labs	49c3a251c4
9:139391906 NOTCH1 G>A	9	139391906	139391906	G	A	NOTCH1	c.6285C>T	NM_017617.5	NP_060087.3:p.(Arg2095=)	NC_000009.11:g.139391906G>A	(Likely) benign	2 labs	49f504faa5
15:58840689 LIPC G>A	15	58840689	58840689	G	A	LIPC	c.969G>A	NM_000236.3	NP_000227.2:p.(Thr323=)	NC_000015.9:g.58840689G>A	(Likely) benign	2 labs	4a24154f06
18:19321548 MIB1 A>G	18	19321548	19321548	A	G	MIB1	c.4A>G	NM_020774.4	NP_065825.1:p.(Ser2Gly)	NC_000018.9:g.19321548A>G	VUS	2 labs	4a26997a93
7:91870373 KRIT1 G>A	7	91870373	91870373	G	A	KRIT1	c.196C>T	NM_004912.4	NP_004903.2:p.(Gln66Ter)	NC_000007.13:g.91870373G>A	(Likely) pathogenic	4 labs	4a26d26fd9
12:88508166 CEP290 GA>G	12	88508166	88508171	GA	G	CEP290	c.2052+30del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88508171del	(Likely) benign	2 labs	4a3eb0c189
2:189931456 COL5A2 G>T	2	189931456	189931456	G	T	COL5A2	c.1454C>A	NM_000393.5	NP_000384.2:p.(Pro485Gln)	NC_000002.11:g.189931456G>T	(Likely) benign	2 labs	4a436e848d
6:119136203 MCM9 T>C	6	119136203	119136203	T	C	MCM9	c.3216A>G	NM_017696.3	NP_060166.2:p.(Lys1072=)	NC_000006.11:g.119136203T>C	(Likely) benign	2 labs	4a55cfd8b0
17:41246723 BRCA1 G>A	17	41246723	41246723	G	A	BRCA1	c.825C>T	NM_007294.4	NP_009225.1:p.(Gly275=)	NC_000017.10:g.41246723G>A	(Likely) benign	2 labs	4a5c431f9f
10:88477895 LDB3 T>C	10	88477895	88477895	T	C	LDB3	c.1851T>C	NM_007078.3	NP_009009.1:p.(Ile617=)	NC_000010.10:g.88477895T>C	(Likely) benign	3 labs	4a6a53ca2d
2:189862097 COL3A1 G>A	2	189862097	189862097	G	A	COL3A1	c.1851G>A	NM_000090.4	NP_000081.2:p.(Gln617=)	NC_000002.11:g.189862097G>A	(Likely) benign	2 labs	4a7097dd7b
2:179640232 TTN C>T	2	179640232	179640232	C	T	TTN	c.6359G>A	NM_001256850.1	NP_001243779.1:p.(Arg2120Gln)	NC_000002.11:g.179640232C>T	VUS	2 labs	4a968df683
10:73538008 CDH23 C>T	10	73538008	73538008	C	T	CDH23	c.5130C>T	NM_022124.6	NP_071407.4:p.(Ile1710=)	NC_000010.10:g.73538008C>T	(Likely) benign	2 labs	4a9fd5f069
1:116268178 CASQ2 G>GA	1	116268178	116268201	G	GA	CASQ2	c.738-5dup	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268201dup	(Likely) benign	3 labs	4af65b969b
1:43394969 SLC2A1 G>A	1	43394969	43394969	G	A	SLC2A1	c.884C>T	NM_006516.4	NP_006507.2:p.(Thr295Met)	NC_000001.10:g.43394969G>A	(Likely) pathogenic	2 labs	4addd59a65
X:41334092 NYX CGCCTCTT>C	X	41334092	41334100	CGCCTCTT	C	NYX	c.1388_1394del	NM_022567.2	NP_072089.1:p.(Ala463ValfsTer95)	NC_000023.10:g.41334094_41334100del	(Likely) pathogenic	2 labs	4b0bc46b69
11:19204258 CSRP3 C>G	11	19204258	19204258	C	G	CSRP3	c.544G>C	NM_003476.5	NP_003467.1:p.(Gly182Arg)	NC_000011.9:g.19204258C>G	VUS	3 labs	4b6d1324b0
7:4827893 AP5Z1 G>A	7	4827893	4827893	G	A	AP5Z1	c.1563G>A	NM_014855.3	NP_055670.1:p.(Leu521=)	NC_000007.13:g.4827893G>A	(Likely) benign	3 labs	4bb9c753b7
X:31462737 DMD C>T	X	31462737	31462737	C	T	DMD	c.8945G>A	NM_004006.3	NP_003997.2:p.(Arg2982Gln)	NC_000023.10:g.31462737C>T	(Likely) benign	2 labs	4bcc8bc33c
18:28672114 DSC2 C>T	18	28672114	28672114	C	T	DSC2	c.304G>A	NM_004949.5	NP_004940.1:p.(Glu102Lys)	NC_000018.9:g.28672114C>T	(Likely) benign	5 labs	4be4bc5f58
15:73617798 HCN4 G>A	15	73617798	73617798	G	A	HCN4	c.1591-13C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617798G>A	(Likely) benign	2 labs	4bf4cc8f63
19:10252829 DNMT1 C>T	19	10252829	10252829	C	T	DNMT1	c.3184G>A	NM_001130823.3	NP_001124295.1:p.(Asp1062Asn)	NC_000019.9:g.10252829C>T	VUS	3 labs	4c2b4cdc55
6:7567569 DSP G>A	6	7567569	7567569	G	A	DSP	c.1045-18G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7567569G>A	(Likely) benign	2 labs	4c45318a94
1:237060945 MTR CT>C	1	237060945	237060960	CT	C	MTR	c.*16del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060960del	(Likely) benign	2 labs	4c754cd378
3:178936091 PIK3CA G>A	3	178936091	178936091	G	A	PIK3CA	c.1633G>A	NM_006218.4	NP_006209.2:p.(Glu545Lys)	NC_000003.11:g.178936091G>A	(Likely) pathogenic	2 labs	4c9b893def
1:202569600 SYT2 C>T	1	202569600	202569600	C	T	SYT2	c.804G>A	NM_001136504.1	NP_001129976.1:p.(Pro268=)	NC_000001.10:g.202569600C>T	(Likely) benign	2 labs	4cc7888d5e
2:179528807 TTN T>A	2	179528807	179528807	T	A	TTN	c.36299A>T	NM_001267550.2	NP_001254479.2:p.(Glu12100Val)	NC_000002.11:g.179528807T>A	(Likely) benign	4 labs	4cd396bacc
6:32052182 TNXB T>C	6	32052182	32052182	T	C	TNXB	c.3445+8A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32052182T>C	(Likely) benign	4 labs	4cd41a7f04
10:73377106 CDH23 G>A	10	73377106	73377106	G	A	CDH23	c.1090G>A	NM_022124.6	NP_071407.4:p.(Gly364Ser)	NC_000010.10:g.73377106G>A	VUS	2 labs	4ce4392f76
19:49671507 TRPM4 G>A	19	49671507	49671507	G	A	TRPM4	c.449-10G>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49671507G>A	(Likely) benign	3 labs	4cfe539f9d
16:16276341 ABCC6 T>A	16	16276341	16276341	T	A	ABCC6	c.2175A>T	NM_001171.6	NP_001162.5:p.(Val725=)	NC_000016.9:g.16276341T>A	(Likely) benign	2 labs	4d160b567e
7:590199 PRKAR1B A>G	7	590199	590199	A	G	PRKAR1B	c.1014T>C	NM_001164761.2	NP_001158233.1:p.(Thr338=)	NC_000007.13:g.590199A>G	(Likely) benign	2 labs	4d28abdef6
5:112177973 APC A>G	5	112177973	112177973	A	G	APC	c.6682A>G	NM_000038.6	NP_000029.2:p.(Arg2228Gly)	NC_000005.9:g.112177973A>G	(Likely) benign	2 labs	4d90cc2c89
3:100570787 ABI3BP T>TAAA	3	100570787	100570801	T	TAAA	ABI3BP	c.1139-6_1139-4dup	NM_015429.4	NP_056244.3:p.?	NC_000003.11:g.100570799_100570801dup	(Likely) benign	2 labs	4dab1979d7
9:100616700 FOXE1 AGCCGCC>A	9	100616700	100616733	AGCCGCC	A	FOXE1	c.532_537del	NM_004473.4	NP_004464.2:p.(Ala178_Ala179del)	NC_000009.11:g.100616728_100616733del	(Likely) benign	4 labs	4dc6213762
11:71153365 DHCR7 TG>T	11	71153365	71153367	TG	T	DHCR7	c.355del	NM_001360.3	NP_001351.2:p.(His119IlefsTer8)	NC_000011.9:g.71153367del	(Likely) pathogenic	2 labs	4ddf9ee45f
2:232995439 DIS3L2 T>G	2	232995439	232995439	T	G	DIS3L2	c.702+10T>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232995439T>G	(Likely) benign	4 labs	4ddfe3bf8e
15:64008623 HERC1 A>C	15	64008623	64008623	A	C	HERC1	c.4028T>G	NM_003922.4	NP_003913.3:p.(Phe1343Cys)	NC_000015.9:g.64008623A>C	VUS	2 labs	4df0d071ff
6:112522852 LAMA4 G>A	6	112522852	112522852	G	A	LAMA4	c.460C>T	NM_001105206.3	NP_001098676.2:p.(Arg154Trp)	NC_000006.11:g.112522852G>A	(Likely) benign	4 labs	4e3ac21a67
13:32937442 BRCA2 T>G	13	32937442	32937442	T	G	BRCA2	c.8103T>G	NM_000059.4	NP_000050.3:p.(Ser2701=)	NC_000013.10:g.32937442T>G	(Likely) benign	4 labs	4e404a3e5f
12:110231423 TRPV4 G>A	12	110231423	110231423	G	A	TRPV4	c.1585-18C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110231423G>A	(Likely) benign	2 labs	4e430757b2
13:110959356 COL4A1 C>G	13	110959356	110959356	C	G	COL4A1	c.19G>C	NM_001845.6	NP_001836.3:p.(Val7Leu)	NC_000013.10:g.110959356C>G	(Likely) benign	3 labs	4e4a8f323d
X:31200832 DMD A>ATT	X	31200832	31200842	A	ATT	DMD	c.9974+21_9974+22dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31200841_31200842dup	(Likely) benign	2 labs	4e60ab18f6
6:16327906 ATXN1 CTGA>C	6	16327906	16327911	CTGA	C	ATXN1	c.633_635del	NM_000332.3	NP_000323.2:p.(His211del)	NC_000006.11:g.16327909_16327911del	(Likely) benign	2 labs	4e50ca940e
9:139399226 NOTCH1 G>A	9	139399226	139399226	G	A	NOTCH1	c.4917C>T	NM_017617.5	NP_060087.3:p.(Ala1639=)	NC_000009.11:g.139399226G>A	(Likely) benign	4 labs	4e66407d8a
6:145956315 EPM2A TAGAC>T	6	145956315	145956329	TAGAC	T	EPM2A	c.780_783del	NM_001368130.1	NP_001355059.1:p.(Tyr263IlefsTer2)	NC_000006.11:g.145956326_145956329del	(Likely) benign	2 labs	4e70dcd85c
22:51065361 ARSA C>A	22	51065361	51065361	C	A	ARSA	c.585G>T	NM_000487.6	NP_000478.3:p.(Trp195Cys)	NC_000022.10:g.51065361C>A	(Likely) benign	3 labs	4e73182a75
10:112404302 RBM20 G>A	10	112404302	112404302	G	A	RBM20	c.90G>A	NM_001134363.3	NP_001127835.2:p.(Arg30=)	NC_000010.10:g.112404302G>A	(Likely) benign	4 labs	4e73280d6b
X:38262952 OTC G>A	X	38262952	38262952	G	A	OTC	c.622G>A	NM_000531.6	NP_000522.3:p.(Ala208Thr)	NC_000023.10:g.38262952G>A	(Likely) pathogenic	3 labs	4e73715601
2:219677319 CYP27A1 C>T	2	219677319	219677319	C	T	CYP27A1	c.691C>T	NM_000784.4	NP_000775.1:p.(Arg231Ter)	NC_000002.11:g.219677319C>T	(Likely) pathogenic	2 labs	4ec2a82a63
11:65320353 LTBP3 G>C	11	65320353	65320353	G	C	LTBP3	c.1164C>G	NM_001130144.3	NP_001123616.1:p.(Gly388=)	NC_000011.9:g.65320353G>C	(Likely) benign	2 labs	4ecf8573de
10:121436569 BAG3 C>A	10	121436569	121436569	C	A	BAG3	c.1503C>A	NM_004281.4	NP_004272.2:p.(Val501=)	NC_000010.10:g.121436569C>A	(Likely) benign	4 labs	4ee11450c8
1:116268178 CASQ2 GAAA>G	1	116268178	116268201	GAAA	G	CASQ2	c.738-7_738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268199_116268201del	(Likely) benign	4 labs	4eeb9885b4
8:42977531 POMK C>T	8	42977531	42977531	C	T	POMK	c.564C>T	NM_032237.5	NP_115613.1:p.(Ile188=)	NC_000008.10:g.42977531C>T	(Likely) benign	2 labs	4eed6d0d5d
2:47641559 MSH2 T>G	2	47641559	47641559	T	G	MSH2	c.942+2T>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559T>G	(Likely) pathogenic	3 labs	4ef9b3001a
3:38627355 SCN5A C>T	3	38627355	38627355	C	T	SCN5A	c.2614G>A	NM_001099404.2	NP_001092874.1:p.(Asp872Asn)	NC_000003.11:g.38627355C>T	VUS	2 labs	4f2143476c
12:102045163 MYBPC1 C>G	12	102045163	102045163	C	G	MYBPC1	c.1518C>G	NM_002465.4	NP_002456.2:p.(His506Gln)	NC_000012.11:g.102045163C>G	(Likely) benign	2 labs	4f6a5247e9
4:119745842 SEC24D G>T	4	119745842	119745842	G	T	SEC24D	c.181C>A	NM_001318066.2	NP_001304995.1:p.(Pro61Thr)	NC_000004.11:g.119745842G>T	(Likely) benign	3 labs	4f7659ae27
5:82837847 VCAN G>A	5	82837847	82837847	G	A	VCAN	c.9025G>A	NM_004385.5	NP_004376.2:p.(Glu3009Lys)	NC_000005.9:g.82837847G>A	(Likely) benign	2 labs	4f7b2e2da6
1:201334354 TNNT2 CT>C	1	201334354	201334357	CT	C	TNNT2	c.345del	NM_001276347.2	NP_001263276.1:p.(Glu116ArgfsTer66)	NC_000001.10:g.201334357del	VUS	2 labs	4f9cbe65cd
2:179463399 TTN A>G	2	179463399	179463399	A	G	TTN	c.56963-18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463399A>G	(Likely) benign	2 labs	4f9dc8e804
11:76867745 MYO7A G>A	11	76867745	76867745	G	A	MYO7A	c.510G>A	NM_000260.4	NP_000251.3:p.(Leu170=)	NC_000011.9:g.76867745G>A	(Likely) benign	2 labs	4fcf00e0c0
5:236695 SDHA C>T	5	236695	236695	C	T	SDHA	c.1413C>T	NM_004168.4	NP_004159.2:p.(Ile471=)	NC_000005.9:g.236695C>T	(Likely) benign	2 labs	4fda64690b
13:103506686 ERCC5 C>G	13	103506686	103506686	C	G	ERCC5	c.429C>G	NM_000123.4	NP_000114.3:p.(Leu143=)	NC_000013.10:g.103506686C>G	(Likely) benign	2 labs	4fe64623ea
11:75277992 SERPINH1 C>T	11	75277992	75277992	C	T	SERPINH1	c.598C>T	NM_001207014.3	NP_001193943.1:p.(Leu200=)	NC_000011.9:g.75277992C>T	(Likely) benign	2 labs	500b46c586
3:128204960 GATA2 G>C	3	128204960	128204960	G	C	GATA2	c.481C>G	NM_032638.5	NP_116027.2:p.(Pro161Ala)	NC_000003.11:g.128204960G>C	(Likely) benign	5 labs	5017726716
3:38645350 SCN5A C>T	3	38645350	38645350	C	T	SCN5A	c.1743G>A	NM_001099404.2	NP_001092874.1:p.(Ser581=)	NC_000003.11:g.38645350C>T	(Likely) benign	4 labs	506d2e6e65
17:11502116 DNAH9 CT>C	17	11502116	11502123	CT	C	DNAH9	c.308del	NM_001372.4	NP_001363.2:p.(Phe103SerfsTer31)	NC_000017.10:g.11502123del	(Likely) pathogenic	2 labs	508768faf2
6:7584150 DSP G>A	6	7584150	7584150	G	A	DSP	c.6655G>A	NM_004415.4	NP_004406.2:p.(Val2219Ile)	NC_000006.11:g.7584150G>A	(Likely) benign	2 labs	5088e189bb
2:74757487 HTRA2 G>A	2	74757487	74757487	G	A	HTRA2	c.354G>A	NM_013247.5	NP_037379.1:p.(Leu118=)	NC_000002.11:g.74757487G>A	(Likely) benign	2 labs	5094349874
11:31824263 PAX6 G>T	11	31824263	31824263	G	T	PAX6	c.373C>A	NM_001368910.2	NP_001355839.1:p.(Arg125=)	NC_000011.9:g.31824263G>T	(Likely) benign	3 labs	50c3449cf7
X:153577722 FLNA T>C	X	153577722	153577722	T	C	FLNA	c.7756+8A>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153577722T>C	(Likely) benign	4 labs	50d75c6ffb
16:2505409 CCNF A>G	16	2505409	2505409	A	G	CCNF	c.1729A>G	NM_001761.3	NP_001752.2:p.(Ser577Gly)	NC_000016.9:g.2505409A>G	VUS	2 labs	511a898b9d
11:108190770 ATM G>C	11	108190770	108190770	G	C	ATM	c.6437G>C	NM_000051.4	NP_000042.3:p.(Ser2146Thr)	NC_000011.9:g.108190770G>C	(Likely) benign	6 labs	51ade2bd9d
14:76447198 TGFB3 G>A	14	76447198	76447198	G	A	TGFB3	c.39C>T	NM_003239.5	NP_003230.1:p.(Ala13=)	NC_000014.8:g.76447198G>A	(Likely) benign	2 labs	51b275abff
3:193360835 OPA1 T>G	3	193360835	193360835	T	G	OPA1	c.1302T>G	NM_130837.3	NP_570850.2:p.(Pro434=)	NC_000003.11:g.193360835T>G	(Likely) benign	3 labs	51cacaad48
2:167149890 SCN9A C>T	2	167149890	167149890	C	T	SCN9A	c.966-8G>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167149890C>T	(Likely) benign	2 labs	51de3c8c4d
19:55667653 TNNI3 C>T	19	55667653	55667653	C	T	TNNI3	c.198G>A	NM_000363.5	NP_000354.4:p.(Glu66=)	NC_000019.9:g.55667653C>T	(Likely) benign	4 labs	51de871a24
16:88499416 ZNF469 G>A	16	88499416	88499416	G	A	ZNF469	c.5538G>A	NM_001367624.2	NP_001354553.1:p.(Thr1846=)	NC_000016.9:g.88499416G>A	(Likely) benign	2 labs	51f9903cad
22:26872985 HPS4 T>C	22	26872985	26872985	T	C	HPS4	c.250A>G	NM_022081.6	NP_071364.4:p.(Ile84Val)	NC_000022.10:g.26872985T>C	(Likely) benign	2 labs	5232ee2d36
17:42426896 GRN TC>T	17	42426896	42426898	TC	T	GRN	c.243del	NM_002087.4	NP_002078.1:p.(Ser82ValfsTer174)	NC_000017.10:g.42426898del	(Likely) pathogenic	2 labs	52722585a5
3:178936094 PIK3CA C>A	3	178936094	178936094	C	A	PIK3CA	c.1636C>A	NM_006218.4	NP_006209.2:p.(Gln546Lys)	NC_000003.11:g.178936094C>A	(Likely) pathogenic	2 labs	52a28dfb4c
7:128482764 FLNC C>T	7	128482764	128482764	C	T	FLNC	c.2389+12C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482764C>T	(Likely) benign	3 labs	52a928c907
12:57965870 KIF5A C>T	12	57965870	57965870	C	T	KIF5A	c.1389C>T	NM_004984.4	NP_004975.2:p.(Asn463=)	NC_000012.11:g.57965870C>T	(Likely) benign	2 labs	52a9875d57
7:143013391 CLCN1 A>C	7	143013391	143013391	A	C	CLCN1	c.86A>C	NM_000083.3	NP_000074.3:p.(His29Pro)	NC_000007.13:g.143013391A>C	(Likely) benign	2 labs	52b55f290f
6:152443761 SYNE1 C>T	6	152443761	152443761	C	T	SYNE1	c.26204G>A	NM_182961.4	NP_892006.3:p.(Arg8735Gln)	NC_000006.11:g.152443761C>T	(Likely) benign	2 labs	52d4821323
12:110029107 MVK G>A	12	110029107	110029107	G	A	MVK	c.830G>A	NM_000431.4	NP_000422.1:p.(Arg277His)	NC_000012.11:g.110029107G>A	(Likely) pathogenic	2 labs	52d792b9ec
9:135203176 SETX G>A	9	135203176	135203176	G	A	SETX	c.3809C>T	NM_001351527.2	NP_001338456.1:p.(Pro1270Leu)	NC_000009.11:g.135203176G>A	(Likely) benign	3 labs	52d8e98cca
2:179597724 TTN A>T	2	179597724	179597724	A	T	TTN	c.12447T>A	NM_133378.4	NP_596869.4:p.(Asp4149Glu)	NC_000002.11:g.179597724A>T	VUS	4 labs	52e19bd7d9
2:44047133 ABCG5 C>T	2	44047133	44047133	C	T	ABCG5	c.1570G>A	NM_022436.3	NP_071881.1:p.(Val524Ile)	NC_000002.11:g.44047133C>T	(Likely) benign	2 labs	52eaeabbc3
13:32910430 BRCA2 C>T	13	32910430	32910430	C	T	BRCA2	c.1938C>T	NM_000059.4	NP_000050.3:p.(Ser646=)	NC_000013.10:g.32910430C>T	(Likely) benign	7 labs	52ec0bbda1
1:6533112 PLEKHG5 G>A	1	6533112	6533112	G	A	PLEKHG5	c.918C>T	NM_198681.4	NP_941374.3:p.(Asp306=)	NC_000001.10:g.6533112G>A	(Likely) benign	2 labs	52ee46059d
20:57484248 GNAS GCTGA>G	20	57484248	57484254	GCTGA	G	GNAS	c.2494_2497del	NM_080425.4	NP_536350.2:p.(Asp832MetfsTer14)	NC_000020.10:g.57484251_57484254del	(Likely) pathogenic	2 labs	531143e225
5:148388420 SH3TC2 C>T	5	148388420	148388420	C	T	SH3TC2	c.3472G>A	NM_024577.4	NP_078853.2:p.(Val1158Ile)	NC_000005.9:g.148388420C>T	(Likely) benign	2 labs	534e019ce3
3:15613279 HACL1 T>TA	3	15613279	15613292	T	TA	HACL1	c.994-4dup	NM_012260.4	NP_036392.2:p.?	NC_000003.11:g.15613292dup	(Likely) benign	2 labs	53589e67eb
12:2791821 CACNA1C G>A	12	2791821	2791821	G	A	CACNA1C	c.5799G>A	NM_199460.4	NP_955630.3:p.(Glu1933=)	NC_000012.11:g.2791821G>A	(Likely) benign	3 labs	53631fcf7b
16:9858275 GRIN2A C>G	16	9858275	9858275	C	G	GRIN2A	c.3126G>C	NM_001134407.3	NP_001127879.1:p.(Arg1042Ser)	NC_000016.9:g.9858275C>G	VUS	2 labs	5381d156a4
13:32945368 BRCA2 T>TC	13	32945368	32945369	T	TC	BRCA2	c.8632+132dup	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32945369dup	(Likely) benign	3 labs	5389b65932
2:179613112 TTN G>A	2	179613112	179613112	G	A	TTN	c.14015C>T	NM_133379.5	NP_596870.2:p.(Ala4672Val)	NC_000002.11:g.179613112G>A	(Likely) benign	2 labs	538a25afd5
X:107976940 IRS4 G>C	X	107976940	107976940	G	C	IRS4	c.2635C>G	NM_003604.2	NP_003595.1:p.(His879Asp)	NC_000023.10:g.107976940G>C	(Likely) benign	2 labs	5395749502
6:157099165 ARID1B GTCC>G	6	157099165	157099186	GTCC	G	ARID1B	c.370_372del	NM_001371656.1	NP_001358585.1:p.(Ser124del)	NC_000006.11:g.157099184_157099186del	(Likely) benign	2 labs	53b18efcb8
12:32949251 PKP2 AAC>A	12	32949251	32949254	AAC	A	PKP2	c.2300-21_2300-20del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949253_32949254del	(Likely) benign	2 labs	540111bee9
7:128478097 FLNC C>T	7	128478097	128478097	C	T	FLNC	c.1026C>T	NM_001458.5	NP_001449.3:p.(Pro342=)	NC_000007.13:g.128478097C>T	(Likely) benign	2 labs	540b89643c
14:105173831 INF2 G>T	14	105173831	105173831	G	T	INF2	c.1227G>T	NM_022489.4	NP_071934.3:p.(Ser409=)	NC_000014.8:g.105173831G>T	(Likely) benign	2 labs	54213e6e94
9:137701064 COL5A1 C>T	9	137701064	137701064	C	T	COL5A1	c.3402C>T	NM_000093.5	NP_000084.3:p.(Asp1134=)	NC_000009.11:g.137701064C>T	(Likely) benign	2 labs	54282dcb12
1:237659836 RYR2 G>A	1	237659836	237659836	G	A	RYR2	c.1987G>A	NM_001035.3	NP_001026.2:p.(Val663Ile)	NC_000001.10:g.237659836G>A	(Likely) benign	2 labs	5436e5448c
17:36499016 GPR179 T>A	17	36499016	36499016	T	A	GPR179	c.657A>T	NM_001004334.4	NP_001004334.3:p.(Gly219=)	NC_000017.10:g.36499016T>A	(Likely) benign	2 labs	543d9c8560
6:7563959 DSP T>G	6	7563959	7563959	T	G	DSP	c.727-10T>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7563959T>G	(Likely) benign	2 labs	5451627896
5:67593363 PIK3R1 T>C	5	67593363	67593363	T	C	PIK3R1	c.2109T>C	NM_181523.3	NP_852664.1:p.(Leu703=)	NC_000005.9:g.67593363T>C	(Likely) benign	2 labs	547a167237
20:57429217 GNAS C>A	20	57429217	57429217	C	A	GNAS	c.710C>A	NM_001077490.3	NP_001070958.1:p.(Ala237Asp)	NC_000020.10:g.57429217C>A	(Likely) benign	3 labs	5487f5f198
17:56435316 RNF43 C>T	17	56435316	56435316	C	T	RNF43	c.1821G>A	NM_017763.6	NP_060233.3:p.(Ser607=)	NC_000017.10:g.56435316C>T	(Likely) benign	3 labs	54881f1883
1:152278670 FLG C>G	1	152278670	152278670	C	G	FLG	c.8692G>C	NM_002016.2	NP_002007.1:p.(Glu2898Gln)	NC_000001.10:g.152278670C>G	(Likely) benign	2 labs	54976055ad
8:61765944 CHD7 T>G	8	61765944	61765944	T	G	CHD7	c.6660T>G	NM_017780.4	NP_060250.2:p.(Gly2220=)	NC_000008.10:g.61765944T>G	(Likely) benign	5 labs	54a89dd8f0
1:150526225 ADAMTSL4 CCAGAGCCCAGGCCTCTGGCA>C	1	150526225	150526253	CCAGAGCCCAGGCCTCTGGCA	C	ADAMTSL4	c.767_786del	NM_019032.6	NP_061905.2:p.(Gln256ProfsTer38)	NC_000001.10:g.150526234_150526253del	(Likely) pathogenic	2 labs	54b52253fe
2:179455962 TTN C>G	2	179455962	179455962	C	G	TTN	c.60490G>C	NM_001267550.2	NP_001254479.2:p.(Val20164Leu)	NC_000002.11:g.179455962C>G	(Likely) benign	4 labs	54bed03f24
8:11615695 GATA4 A>G	8	11615695	11615695	A	G	GATA4	c.1150-107A>G	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11615695A>G	(Likely) benign	4 labs	54e51e5abb
19:10270746 DNMT1 GA>G	19	10270746	10270757	GA	G	DNMT1	c.1044-8del	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10270757del	(Likely) benign	4 labs	550ddc1094
14:23857354 MYH6 C>T	14	23857354	23857354	C	T	MYH6	c.4359+10G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857354C>T	(Likely) benign	2 labs	5503b650c7
9:134397428 POMT1 C>A	9	134397428	134397428	C	A	POMT1	c.1826-6C>A	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134397428C>A	(Likely) benign	3 labs	5510f8d5c5
19:40903169 PRX G>A	19	40903169	40903169	G	A	PRX	c.1090C>T	NM_181882.3	NP_870998.2:p.(Arg364Ter)	NC_000019.9:g.40903169G>A	(Likely) pathogenic	2 labs	552293c26d
3:81720076 GBE1 G>A	3	81720076	81720076	G	A	GBE1	c.342C>T	NM_000158.4	NP_000149.4:p.(Tyr114=)	NC_000003.11:g.81720076G>A	(Likely) benign	3 labs	553196a2a9
X:118604014 SLC25A5 G>A	X	118604014	118604014	G	A	SLC25A5	c.502G>A	NM_001152.5	NP_001143.2:p.(Asp168Asn)	NC_000023.10:g.118604014G>A	(Likely) benign	2 labs	5598805743
11:108158393 ATM C>A	11	108158393	108158393	C	A	ATM	c.4060C>A	NM_000051.4	NP_000042.3:p.(Pro1354Thr)	NC_000011.9:g.108158393C>A	(Likely) benign	5 labs	559ca0ddb0
15:73614903 HCN4 C>A	15	73614903	73614903	C	A	HCN4	c.3531G>T	NM_005477.3	NP_005468.1:p.(Gly1177=)	NC_000015.9:g.73614903C>A	(Likely) benign	2 labs	55d4fbb990
X:135292021 FHL1 TC>T	X	135292021	135292027	TC	T	FHL1	c.689-3del	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135292027del	(Likely) benign	4 labs	55e3e6fa61
17:26875677 UNC119 G>C	17	26875677	26875677	G	C	UNC119	c.267C>G	NM_054035.2	NP_473376.1:p.(Val89=)	NC_000017.10:g.26875677G>C	(Likely) benign	2 labs	560d29c6d5
16:30735212 SRCAP A>G	16	30735212	30735212	A	G	SRCAP	c.4467A>G	NM_006662.3	NP_006653.2:p.(Gly1489=)	NC_000016.9:g.30735212A>G	(Likely) benign	2 labs	561c932c09
9:137591755 COL5A1 C>T	9	137591755	137591755	C	T	COL5A1	c.278C>T	NM_000093.5	NP_000084.3:p.(Ala93Val)	NC_000009.11:g.137591755C>T	(Likely) benign	3 labs	5649b67db0
14:102442054 DYNC1H1 G>A	14	102442054	102442054	G	A	DYNC1H1	c.262G>A	NM_001376.5	NP_001367.2:p.(Val88Ile)	NC_000014.8:g.102442054G>A	VUS	2 labs	564d82eb91
18:19359581 MIB1 A>T	18	19359581	19359581	A	T	MIB1	c.843A>T	NM_020774.4	NP_065825.1:p.(Thr281=)	NC_000018.9:g.19359581A>T	(Likely) benign	4 labs	565b8a2e39
2:208632194 FZD5 C>G	2	208632194	208632194	C	G	FZD5	c.1270G>C	NM_003468.4	NP_003459.2:p.(Val424Leu)	NC_000002.11:g.208632194C>G	VUS	2 labs	56707ead8f
3:38768247 SCN10A G>A	3	38768247	38768247	G	A	SCN10A	c.2937C>T	NM_006514.4	NP_006505.4:p.(Gly979=)	NC_000003.11:g.38768247G>A	(Likely) benign	2 labs	567aa761c0
2:179585393 TTN A>G	2	179585393	179585393	A	G	TTN	c.23099-3T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585393A>G	(Likely) benign	2 labs	567f5f5ef2
X:130416958 IGSF1 C>T	X	130416958	130416958	C	T	IGSF1	c.948G>A	NM_001170961.2	NP_001164432.1:p.(Val316=)	NC_000023.10:g.130416958C>T	(Likely) benign	2 labs	568f94f1ab
14:24619630 RNF31 T>C	14	24619630	24619630	T	C	RNF31	c.1170T>C	NM_017999.5	NP_060469.4:p.(Asp390=)	NC_000014.8:g.24619630T>C	(Likely) benign	2 labs	56989fd76c
9:107546616 ABCA1 CT>C	9	107546616	107546619	CT	C	ABCA1	c.6765del	NM_005502.4	NP_005493.2:p.(Val2256Ter)	NC_000009.11:g.107546619del	VUS	2 labs	56ab35106d
19:7184651 INSR G>GGA	19	7184651	7184672	G	GGA	INSR	c.653-5_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184671_7184672dup	(Likely) benign	4 labs	56bf0f6924
2:73676961 ALMS1 C>G	2	73676961	73676961	C	G	ALMS1	c.3310C>G	NM_015120.4	NP_055935.4:p.(Pro1104Ala)	NC_000002.11:g.73676961C>G	(Likely) benign	2 labs	56ca200259
X:73811739 RLIM A>G	X	73811739	73811739	A	G	RLIM	c.1411T>C	NM_183353.3	NP_899196.1:p.(Ser471Pro)	NC_000023.10:g.73811739A>G	(Likely) benign	2 labs	56dc156302
1:40775937 COL9A2 G>A	1	40775937	40775937	G	A	COL9A2	c.737C>T	NM_001852.4	NP_001843.1:p.(Thr246Met)	NC_000001.10:g.40775937G>A	(Likely) benign	3 labs	56eb73b44e
1:17354373 SDHB GGAAGAA>G	1	17354373	17354397	GGAAGAA	G	SDHB	c.424-19_424-14del	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17354392_17354397del	(Likely) benign	3 labs	570070d25e
10:88469687 LDB3 G>A	10	88469687	88469687	G	A	LDB3	c.1126G>A	NM_001171610.2	NP_001165081.1:p.(Ala376Thr)	NC_000010.10:g.88469687G>A	(Likely) benign	4 labs	570f571109
6:80837253 BCKDHB G>T	6	80837253	80837253	G	T	BCKDHB	c.197-11G>T	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80837253G>T	(Likely) benign	3 labs	57486140dd
2:179485254 TTN G>A	2	179485254	179485254	G	A	TTN	c.45994C>T	NM_001267550.2	NP_001254479.2:p.(Leu15332=)	NC_000002.11:g.179485254G>A	(Likely) benign	3 labs	576ecdc1aa
2:179583496 TTN T>G	2	179583496	179583496	T	G	TTN	c.24431A>C	NM_001267550.2	NP_001254479.2:p.(Glu8144Ala)	NC_000002.11:g.179583496T>G	(Likely) benign	2 labs	577231e265
1:237620049 RYR2 T>C	1	237620049	237620049	T	C	RYR2	c.1612+14T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237620049T>C	(Likely) benign	3 labs	5789f04d8a
12:9027033 A2ML1 A>G	12	9027033	9027033	A	G	A2ML1	c.4234A>G	NM_144670.6	NP_653271.3:p.(Thr1412Ala)	NC_000012.11:g.9027033A>G	(Likely) benign	2 labs	57827beabf
3:123471160 MYLK G>A	3	123471160	123471160	G	A	MYLK	c.373+18C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123471160G>A	(Likely) benign	2 labs	57cfbe200c
18:25593694 CDH2 C>T	18	25593694	25593694	C	T	CDH2	c.352G>A	NM_001792.5	NP_001783.2:p.(Ala118Thr)	NC_000018.9:g.25593694C>T	(Likely) benign	2 labs	57d2a9459d
10:112771351 SHOC2 AT>A	10	112771351	112771361	AT	A	SHOC2	c.1541-7del	NM_007373.4	NP_031399.2:p.?	NC_000010.10:g.112771361del	(Likely) benign	3 labs	58288a8ab4
2:179611052 TTN T>C	2	179611052	179611052	T	C	TTN	c.16075A>G	NM_133379.5	NP_596870.2:p.(Met5359Val)	NC_000002.11:g.179611052T>C	VUS	2 labs	5854dd49bb
3:30715608 TGFBR2 A>G	3	30715608	30715608	A	G	TGFBR2	c.1341A>G	NM_001024847.2	NP_001020018.1:p.(Ala447=)	NC_000003.11:g.30715608A>G	(Likely) benign	2 labs	5861a40026
12:133250197 POLE C>T	12	133250197	133250197	C	T	POLE	c.1323G>A	NM_006231.4	NP_006222.2:p.(Pro441=)	NC_000012.11:g.133250197C>T	(Likely) benign	3 labs	587bf5ee80
16:72143406 DHX38 G>C	16	72143406	72143406	G	C	DHX38	c.3474G>C	NM_014003.4	NP_054722.2:p.(Arg1158=)	NC_000016.9:g.72143406G>C	(Likely) benign	2 labs	58f5ae92eb
7:128487880 FLNC G>A	7	128487880	128487880	G	A	FLNC	c.4418G>A	NM_001458.5	NP_001449.3:p.(Gly1473Asp)	NC_000007.13:g.128487880G>A	VUS	2 labs	58f6a4d48a
15:48752455 FBN1 C>T	15	48752455	48752455	C	T	FBN1	c.5284G>A	NM_000138.5	NP_000129.3:p.(Gly1762Ser)	NC_000015.9:g.48752455C>T	(Likely) pathogenic	2 labs	595b2defa3
16:56533795 BBS2 C>T	16	56533795	56533795	C	T	BBS2	c.1422G>A	NM_031885.5	NP_114091.4:p.(Ser474=)	NC_000016.9:g.56533795C>T	(Likely) benign	3 labs	598dfb93fd
11:2466324 KCNQ1 T>C	11	2466324	2466324	T	C	KCNQ1	c.-5T>C	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2466324T>C	(Likely) benign	3 labs	59a06bb614
1:45797835 MUTYH T>G	1	45797835	45797835	T	G	MUTYH	c.933+3A>C	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45797835T>G	(Likely) pathogenic	2 labs	59d9dbd239
X:133511874 PHF6 CA>C	X	133511874	133511879	CA	C	PHF6	c.138+94del	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133511879del	(Likely) benign	2 labs	59dc7fd656
6:123869769 TRDN TAAA>T	6	123869769	123869784	TAAA	T	TRDN	c.233-15_233-13del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123869782_123869784del	(Likely) benign	2 labs	59dfc9c3f1
17:56291612 MKS1 C>A	17	56291612	56291612	C	A	MKS1	c.644+8G>T	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56291612C>A	(Likely) benign	3 labs	5a03391811
16:16276768 ABCC6 G>T	16	16276768	16276768	G	T	ABCC6	c.1963C>A	NM_001171.6	NP_001162.5:p.(Gln655Lys)	NC_000016.9:g.16276768G>T	VUS	2 labs	5a2f795009
11:6411930 SMPD1 CCTGGTG>C	11	6411930	6411940	CCTGGTG	C	SMPD1	c.107_112del	NM_000543.5	NP_000534.3:p.(Val36_Leu37del)	NC_000011.9:g.6411935_6411940del	(Likely) benign	3 labs	5a8926f6cc
5:89948228 ADGRV1 C>G	5	89948228	89948228	C	G	ADGRV1	c.3482C>G	NM_032119.4	NP_115495.3:p.(Ser1161Cys)	NC_000005.9:g.89948228C>G	(Likely) benign	2 labs	5a84f2389a
X:119590533 LAMP2 T>A	X	119590533	119590533	T	A	LAMP2	c.156A>T	NM_002294.3	NP_002285.1:p.(Val52=)	NC_000023.10:g.119590533T>A	(Likely) benign	2 labs	5a86f5174f
19:50780082 MYH14 C>A	19	50780082	50780082	C	A	MYH14	c.3749C>A	NM_001145809.2	NP_001139281.1:p.(Ala1250Glu)	NC_000019.9:g.50780082C>A	(Likely) benign	2 labs	5aaf004438
19:15291931 NOTCH3 C>T	19	15291931	15291931	C	T	NOTCH3	c.2835G>A	NM_000435.3	NP_000426.2:p.(Ser945=)	NC_000019.9:g.15291931C>T	(Likely) benign	2 labs	5aaf36de8c
1:3328659 PRDM16 C>T	1	3328659	3328659	C	T	PRDM16	c.1898C>T	NM_022114.4	NP_071397.3:p.(Pro633Leu)	NC_000001.10:g.3328659C>T	(Likely) benign	2 labs	5ac5beeb3b
3:148901300 CP C>T	3	148901300	148901300	C	T	CP	c.2378G>A	NM_000096.4	NP_000087.2:p.(Arg793His)	NC_000003.11:g.148901300C>T	(Likely) benign	2 labs	5ac8c3e694
6:110062705 FIG4 A>T	6	110062705	110062705	A	T	FIG4	c.834A>T	NM_014845.6	NP_055660.1:p.(Lys278Asn)	NC_000006.11:g.110062705A>T	(Likely) benign	2 labs	5aca780aae
2:179392469 TTN A>G	2	179392469	179392469	A	G	TTN	c.107384T>C	NM_001267550.2	NP_001254479.2:p.(Val35795Ala)	NC_000002.11:g.179392469A>G	VUS	2 labs	5ae59c73e3
4:126411525 FAT4 G>A	4	126411525	126411525	G	A	FAT4	c.13554G>A	NM_001291303.3	NP_001278232.1:p.(Leu4518=)	NC_000004.11:g.126411525G>A	(Likely) benign	3 labs	5af9cc103b
13:32953971 BRCA2 C>T	13	32953971	32953971	C	T	BRCA2	c.9038C>T	NM_000059.4	NP_000050.3:p.(Thr3013Ile)	NC_000013.10:g.32953971C>T	(Likely) benign	5 labs	5afaf6b4d6
3:12422941 PPARG A>G	3	12422941	12422941	A	G	PPARG	c.431A>G	NM_001354668.2	NP_001341597.1:p.(Asp144Gly)	NC_000003.11:g.12422941A>G	VUS	2 labs	5b004648e3
22:29085176 CHEK2 C>T	22	29085176	29085176	C	T	CHEK2	c.1489G>A	NM_007194.4	NP_009125.1:p.(Asp497Asn)	NC_000022.10:g.29085176C>T	(Likely) benign	4 labs	5b1881b0c1
2:99012480 CNGA3 C>T	2	99012480	99012480	C	T	CNGA3	c.847C>T	NM_001298.3	NP_001289.1:p.(Arg283Trp)	NC_000002.11:g.99012480C>T	(Likely) pathogenic	3 labs	5b24837146
2:179613072 TTN T>C	2	179613072	179613072	T	C	TTN	c.14055A>G	NM_133379.5	NP_596870.2:p.(Arg4685=)	NC_000002.11:g.179613072T>C	(Likely) benign	2 labs	5b9c1b4f0a
1:156100522 LMNA G>A	1	156100522	156100522	G	A	LMNA	c.471G>A	NM_170707.4	NP_733821.1:p.(Thr157=)	NC_000001.10:g.156100522G>A	(Likely) benign	3 labs	5ba5be395a
1:210856989 KCNH1 C>T	1	210856989	210856989	C	T	KCNH1	c.2604G>A	NM_172362.3	NP_758872.1:p.(Ala868=)	NC_000001.10:g.210856989C>T	(Likely) benign	2 labs	5bc692e2e4
5:90024663 ADGRV1 G>A	5	90024663	90024663	G	A	ADGRV1	c.10339G>A	NM_032119.4	NP_115495.3:p.(Glu3447Lys)	NC_000005.9:g.90024663G>A	(Likely) benign	2 labs	5bc88d9c32
14:21794176 RPGRIP1 C>T	14	21794176	21794176	C	T	RPGRIP1	c.2554C>T	NM_020366.4	NP_065099.3:p.(Arg852Ter)	NC_000014.8:g.21794176C>T	(Likely) pathogenic	2 labs	5bd562d0f9
9:139390940 NOTCH1 C>T	9	139390940	139390940	C	T	NOTCH1	c.7251G>A	NM_017617.5	NP_060087.3:p.(Pro2417=)	NC_000009.11:g.139390940C>T	(Likely) benign	3 labs	5c87a40fbb
7:27135316 HOXA1 A>ATGG	7	27135316	27135340	A	ATGG	HOXA1	c.213_215dup	NM_005522.5	NP_005513.2:p.(His72dup)	NC_000007.13:g.27135338_27135340dup	(Likely) benign	2 labs	5c9d8f0753
15:34528901 SLC12A6 T>C	15	34528901	34528901	T	C	SLC12A6	c.3015+8A>G	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34528901T>C	(Likely) benign	4 labs	5ca331e971
7:65552792 ASL A>T	7	65552792	65552792	A	T	ASL	c.718+14A>T	NM_001024943.2	NP_001020114.1:p.?	NC_000007.13:g.65552792A>T	(Likely) benign	2 labs	5cc44bbed9
2:179554579 TTN C>T	2	179554579	179554579	C	T	TTN	c.31807G>A	NM_001267550.2	NP_001254479.2:p.(Val10603Ile)	NC_000002.11:g.179554579C>T	(Likely) benign	2 labs	5ccfa72af6
12:121432116 HNF1A G>GC	12	121432116	121432117	G	GC	HNF1A	c.863_864insC	NM_001306179.2	NP_001293108.2:p.(Pro289AlafsTer28)	NC_000012.11:g.121432116_121432117insC	(Likely) pathogenic	2 labs	5cd1b44830
10:18439784 CACNB2 CTTTTTTTT>C	10	18439784	18439809	CTTTTTTTT	C	CACNB2	c.37-10_37-3del	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439802_18439809del	(Likely) benign	2 labs	5ce04b76b6
19:15303018 NOTCH3 G>A	19	15303018	15303018	G	A	NOTCH3	c.432C>T	NM_000435.3	NP_000426.2:p.(Cys144=)	NC_000019.9:g.15303018G>A	(Likely) benign	3 labs	5d0e61cf84
2:179437523 TTN G>A	2	179437523	179437523	G	A	TTN	c.73336C>T	NM_001267550.2	NP_001254479.2:p.(Leu24446=)	NC_000002.11:g.179437523G>A	(Likely) benign	4 labs	5d3c57acf7
11:47361228 MYBPC3 C>CA	11	47361228	47361229	C	CA	MYBPC3	c.2040dup	NM_000256.3	NP_000247.2:p.(Val681CysfsTer12)	NC_000011.9:g.47361229dup	(Likely) pathogenic	2 labs	5d4acdf0ae
9:87317248 NTRK2 T>C	9	87317248	87317248	T	C	NTRK2	c.288-15T>C	NM_001369532.1	NP_001356461.1:p.?	NC_000009.11:g.87317248T>C	(Likely) benign	2 labs	5d52fac362
3:38629082 SCN5A A>G	3	38629082	38629082	A	G	SCN5A	c.2263-18T>C	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38629082A>G	(Likely) benign	3 labs	5d5be121e3
15:33022994 GREM1 C>G	15	33022994	33022994	C	G	GREM1	c.103C>G	NM_013372.7	NP_037504.1:p.(Pro35Ala)	NC_000015.9:g.33022994C>G	(Likely) benign	4 labs	5d81699cce
13:32906818 BRCA2 AG>A	13	32906818	32906820	AG	A	BRCA2	c.1205del	NM_000059.4	NP_000050.3:p.(Gly402ValfsTer2)	NC_000013.10:g.32906820del	(Likely) pathogenic	3 labs	5d87fb608f
6:75890933 COL12A1 T>TA	6	75890933	75890946	T	TA	COL12A1	c.1892-7dup	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890946dup	(Likely) benign	3 labs	5dac46c41e
11:103062862 DYNC2H1 T>G	11	103062862	103062862	T	G	DYNC2H1	c.7577T>G	NM_001377.3	NP_001368.2:p.(Ile2526Ser)	NC_000011.9:g.103062862T>G	(Likely) pathogenic	2 labs	5db3916452
12:2778210 CACNA1C G>A	12	2778210	2778210	G	A	CACNA1C	c.4726+9G>A	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2778210G>A	(Likely) benign	2 labs	5dc6ae0e7f
7:117254753 CFTR G>C	7	117254753	117254753	G	C	CFTR	c.3454G>C	NM_000492.4	NP_000483.3:p.(Asp1152His)	NC_000007.13:g.117254753G>C	(Likely) pathogenic	4 labs	5dda0a9d66
16:1505814 CLCN7 G>A	16	1505814	1505814	G	A	CLCN7	c.917-18C>T	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1505814G>A	(Likely) benign	2 labs	5de4c3f752
3:38674642 SCN5A G>A	3	38674642	38674642	G	A	SCN5A	c.157C>T	NM_001099404.2	NP_001092874.1:p.(Arg53Trp)	NC_000003.11:g.38674642G>A	VUS	2 labs	5deb0288c9
6:152776571 SYNE1 C>T	6	152776571	152776571	C	T	SYNE1	c.2903G>A	NM_033071.4	NP_149062.2:p.(Arg968Gln)	NC_000006.11:g.152776571C>T	(Likely) benign	4 labs	5df2a1ff5b
19:15296182 NOTCH3 G>A	19	15296182	15296182	G	A	NOTCH3	c.2182C>T	NM_000435.3	NP_000426.2:p.(Arg728Cys)	NC_000019.9:g.15296182G>A	(Likely) pathogenic	2 labs	5e17f9baae
20:3870079 PANK2 T>A	20	3870079	3870079	T	A	PANK2	c.332T>A	NM_153638.4	NP_705902.2:p.(Leu111Gln)	NC_000020.10:g.3870079T>A	(Likely) benign	2 labs	5e1e3d0196
5:1212615 SLC6A19 G>A	5	1212615	1212615	G	A	SLC6A19	c.663+16G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1212615G>A	(Likely) benign	2 labs	5e2aa23cd2
15:85401521 ALPK3 A>AGAAAGG	15	85401521	85401529	A	AGAAAGG	ALPK3	c.3555_3560dup	NM_020778.5	NP_065829.4:p.(Arg1186_Glu1187dup)	NC_000015.9:g.85401524_85401529dup	VUS	2 labs	5e316b6066
X:153592919 FLNA G>A	X	153592919	153592919	G	A	FLNA	c.1997C>T	NM_001110556.2	NP_001104026.1:p.(Ala666Val)	NC_000023.10:g.153592919G>A	(Likely) benign	2 labs	5e3a3d1202
11:128786323 KCNJ5 G>A	11	128786323	128786323	G	A	KCNJ5	c.957G>A	NM_001354169.2	NP_001341098.1:p.(Arg319=)	NC_000011.9:g.128786323G>A	(Likely) benign	2 labs	5e42ae9e10
16:15841786 MYH11 G>A	16	15841786	15841786	G	A	MYH11	c.2216C>T	NM_001040113.2	NP_001035202.1:p.(Ala739Val)	NC_000016.9:g.15841786G>A	VUS	2 labs	5e48b27a66
2:99012455 CNGA3 G>T	2	99012455	99012455	G	T	CNGA3	c.822G>T	NM_001298.3	NP_001289.1:p.(Arg274Ser)	NC_000002.11:g.99012455G>T	(Likely) pathogenic	2 labs	5e8aff15df
2:241659286 KIF1A G>A	2	241659286	241659286	G	A	KIF1A	c.4926C>T	NM_001244008.2	NP_001230937.1:p.(Ala1642=)	NC_000002.11:g.241659286G>A	(Likely) benign	2 labs	5e8f905591
2:215595163 BARD1 C>T	2	215595163	215595163	C	T	BARD1	c.1973G>A	NM_000465.4	NP_000456.2:p.(Arg658His)	NC_000002.11:g.215595163C>T	(Likely) benign	2 labs	5ec4f2a106
17:41267763 BRCA1 C>T	17	41267763	41267763	C	T	BRCA1	c.114G>A	NM_007294.4	NP_009225.1:p.(Lys38=)	NC_000017.10:g.41267763C>T	(Likely) benign	7 labs	5f0650e6f7
10:68040240 CTNNA3 G>T	10	68040240	68040240	G	T	CTNNA3	c.1872C>A	NM_013266.4	NP_037398.2:p.(Val624=)	NC_000010.10:g.68040240G>T	(Likely) benign	2 labs	5f01b26923
3:129247936 RHO C>T	3	129247936	129247936	C	T	RHO	c.360C>T	NM_000539.3	NP_000530.1:p.(Gly120=)	NC_000003.11:g.129247936C>T	(Likely) benign	2 labs	5f0f1fa803
X:32583942 DMD G>A	X	32583942	32583942	G	A	DMD	c.1500C>T	NM_004010.3	NP_004001.1:p.(Leu500=)	NC_000023.10:g.32583942G>A	(Likely) benign	2 labs	5f264bea23
3:81698119 GBE1 C>T	3	81698119	81698119	C	T	GBE1	c.579G>A	NM_000158.4	NP_000149.4:p.(Lys193=)	NC_000003.11:g.81698119C>T	(Likely) benign	2 labs	5f2b5446df
18:28648329 DSC2 CAT>C	18	28648329	28648331	CAT	C	DSC2	c.2509-21_2509-20del	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28648330_28648331del	(Likely) benign	2 labs	5f4f41085a
1:40775767 COL9A2 G>A	1	40775767	40775767	G	A	COL9A2	c.792+16C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40775767G>A	(Likely) benign	2 labs	5f5253d17b
7:81634822 CACNA2D1 G>GA	7	81634822	81634836	G	GA	CACNA2D1	c.1516-10dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81634836dup	(Likely) benign	3 labs	5f58acc51a
3:8787514 CAV3 C>T	3	8787514	8787514	C	T	CAV3	c.417C>T	NM_033337.3	NP_203123.1:p.(Val139=)	NC_000003.11:g.8787514C>T	(Likely) benign	2 labs	5fafcd75b4
13:32914723 BRCA2 G>C	13	32914723	32914723	G	C	BRCA2	c.6231G>C	NM_000059.4	NP_000050.3:p.(Lys2077Asn)	NC_000013.10:g.32914723G>C	(Likely) benign	2 labs	5fb2fae769
11:68177510 LRP5 C>T	11	68177510	68177510	C	T	LRP5	c.2220C>T	NM_002335.4	NP_002326.2:p.(Asn740=)	NC_000011.9:g.68177510C>T	(Likely) benign	2 labs	5fb8a0741a
15:35082616 ACTC1 G>A	15	35082616	35082616	G	A	ACTC1	c.1131C>T	NM_005159.5	NP_005150.1:p.(Phe377=)	NC_000015.9:g.35082616G>A	(Likely) benign	2 labs	5fb9c7c6a4
2:179572324 TTN G>A	2	179572324	179572324	G	A	TTN	c.28970C>T	NM_001267550.2	NP_001254479.2:p.(Ser9657Leu)	NC_000002.11:g.179572324G>A	(Likely) benign	2 labs	5ff7feb7c9
1:244217415 ZBTB18 C>T	1	244217415	244217415	C	T	ZBTB18	c.312C>T	NM_006352.4	NP_006343.2:p.(Leu104=)	NC_000001.10:g.244217415C>T	(Likely) benign	2 labs	5ff8cb0c30
3:38655264 SCN5A G>A	3	38655264	38655264	G	A	SCN5A	c.673C>T	NM_198056.3	NP_932173.1:p.(Arg225Trp)	NC_000003.11:g.38655264G>A	(Likely) pathogenic	2 labs	60025d7bfa
3:38597919 SCN5A G>A	3	38597919	38597919	G	A	SCN5A	c.4437+13C>T	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38597919G>A	(Likely) benign	4 labs	601905e8ab
14:50600834 SOS2 G>A	14	50600834	50600834	G	A	SOS2	c.3075+7C>T	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50600834G>A	(Likely) benign	3 labs	602bad6191
1:201020165 CACNA1S T>A	1	201020165	201020165	T	A	CACNA1S	c.4060A>T	NM_000069.3	NP_000060.2:p.(Thr1354Ser)	NC_000001.10:g.201020165T>A	(Likely) benign	2 labs	602be73e67
2:179396929 TTN G>A	2	179396929	179396929	G	A	TTN	c.104413C>T	NM_001267550.2	NP_001254479.2:p.(Arg34805Ter)	NC_000002.11:g.179396929G>A	(Likely) pathogenic	2 labs	603739be86
13:32907000 BRCA2 A>G	13	32907000	32907000	A	G	BRCA2	c.1385A>G	NM_000059.4	NP_000050.3:p.(Glu462Gly)	NC_000013.10:g.32907000A>G	(Likely) benign	6 labs	6051028cf1
1:237965133 RYR2 A>ATT	1	237965133	237965145	A	ATT	RYR2	c.14091-12_14091-11dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237965144_237965145dup	(Likely) benign	2 labs	60782b49de
4:88537135 DSPP T>A	4	88537135	88537135	T	A	DSPP	c.3321T>A	NM_014208.3	NP_055023.2:p.(Asp1107Glu)	NC_000004.11:g.88537135T>A	(Likely) benign	2 labs	60a9355dcf
X:100486721 DRP2 AG>A	X	100486721	100486722	AG	A	DRP2	c.86del	NM_001939.3	NP_001930.2:p.(Ser29ThrfsTer31)	NC_000023.10:g.100486722del	VUS	3 labs	60a954dcd6
14:102449352 DYNC1H1 A>G	14	102449352	102449352	A	G	DYNC1H1	c.962-4A>G	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102449352A>G	(Likely) benign	2 labs	60ab7629ef
14:23866779 MYH6 G>A	14	23866779	23866779	G	A	MYH6	c.1935C>T	NM_002471.4	NP_002462.2:p.(Ser645=)	NC_000014.8:g.23866779G>A	(Likely) benign	2 labs	60c5d7bfc2
11:108128319 ATM A>C	11	108128319	108128319	A	C	ATM	c.2362A>C	NM_000051.4	NP_000042.3:p.(Ser788Arg)	NC_000011.9:g.108128319A>C	(Likely) benign	5 labs	60d0e2d05a
12:48370722 COL2A1 C>A	12	48370722	48370722	C	A	COL2A1	c.3328-20G>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48370722C>A	(Likely) benign	2 labs	60d79d48c0
11:8119298 TUB A>G	11	8119298	8119298	A	G	TUB	c.1088A>G	NM_003320.5	NP_003311.2:p.(Lys363Arg)	NC_000011.9:g.8119298A>G	(Likely) benign	2 labs	60eb07ac47
16:28495349 CLN3 G>A	16	28495349	28495349	G	A	CLN3	c.768C>T	NM_001042432.2	NP_001035897.1:p.(Thr256=)	NC_000016.9:g.28495349G>A	(Likely) benign	2 labs	60f1c16545
10:89623200 KLLN C>A	10	89623200	89623200	C	A	KLLN	c.-956G>T	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623200C>A	(Likely) benign	2 labs	6141eb231a
15:65918277 SLC24A1 C>T	15	65918277	65918277	C	T	SLC24A1	c.1859C>T	NM_004727.3	NP_004718.1:p.(Ala620Val)	NC_000015.9:g.65918277C>T	(Likely) benign	2 labs	614430e8e7
14:73637653 PSEN1 C>T	14	73637653	73637653	C	T	PSEN1	c.236C>T	NM_000021.4	NP_000012.1:p.(Ala79Val)	NC_000014.8:g.73637653C>T	(Likely) pathogenic	2 labs	6157a31d43
2:21231271 APOB A>G	2	21231271	21231271	A	G	APOB	c.8469T>C	NM_000384.3	NP_000375.3:p.(Ala2823=)	NC_000002.11:g.21231271A>G	(Likely) benign	2 labs	6175a67c71
X:153455598 OPN1MW C>G	X	153455598	153455598	C	G	OPN1MW	c.465C>G	NM_000513.2	NP_000504.1:p.(Val155=)	NC_000023.10:g.153455598C>G	(Likely) benign	2 labs	6193462104
18:19345792 MIB1 C>T	18	19345792	19345792	C	T	MIB1	c.289C>T	NM_020774.4	NP_065825.1:p.(Arg97Ter)	NC_000018.9:g.19345792C>T	VUS	2 labs	61aa31c9c3
13:32900149 BRCA2 T>C	13	32900149	32900149	T	C	BRCA2	c.426-89T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900149T>C	(Likely) benign	4 labs	61ae8c6351
2:179410219 TTN A>C	2	179410219	179410219	A	C	TTN	c.95618T>G	NM_001267550.2	NP_001254479.2:p.(Leu31873Arg)	NC_000002.11:g.179410219A>C	VUS	2 labs	61ca913a7f
1:103491069 COL11A1 C>T	1	103491069	103491069	C	T	COL11A1	c.1026+8G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103491069C>T	(Likely) benign	2 labs	61ce72a7f4
6:70944285 COL9A1 C>T	6	70944285	70944285	C	T	COL9A1	c.2271G>A	NM_001851.6	NP_001842.3:p.(Pro757=)	NC_000006.11:g.70944285C>T	(Likely) benign	2 labs	61dd2c4ebc
2:73676418 ALMS1 C>T	2	73676418	73676418	C	T	ALMS1	c.2767C>T	NM_015120.4	NP_055935.4:p.(Leu923=)	NC_000002.11:g.73676418C>T	(Likely) benign	2 labs	61fcdb616d
9:137727061 COL5A1 C>T	9	137727061	137727061	C	T	COL5A1	c.5370+11C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137727061C>T	(Likely) benign	2 labs	62033bf51c
2:179477810 TTN A>G	2	179477810	179477810	A	G	TTN	c.49649-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179477810A>G	(Likely) benign	3 labs	62088cd86d
2:121554890 GLI2 G>A	2	121554890	121554890	G	A	GLI2	c.-7G>A	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121554890G>A	(Likely) benign	2 labs	620b79d09a
7:95818885 SLC25A13 C>A	7	95818885	95818885	C	A	SLC25A13	c.848+8G>T	NM_014251.3	NP_055066.1:p.?	NC_000007.13:g.95818885C>A	(Likely) benign	2 labs	62165e6497
2:179613305 TTN G>C	2	179613305	179613305	G	C	TTN	c.13822C>G	NM_133379.5	NP_596870.2:p.(Pro4608Ala)	NC_000002.11:g.179613305G>C	(Likely) benign	2 labs	622953b6c7
5:90445831 ADGRV1 T>C	5	90445831	90445831	T	C	ADGRV1	c.18433-16T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445831T>C	(Likely) benign	2 labs	6233d2db49
9:103054849 INVS C>T	9	103054849	103054849	C	T	INVS	c.2310C>T	NM_014425.5	NP_055240.2:p.(His770=)	NC_000009.11:g.103054849C>T	(Likely) benign	3 labs	624e7fa861
10:104155750 NFKB2 G>A	10	104155750	104155750	G	A	NFKB2	c.21+13G>A	NM_001288724.1	NP_001275653.1:p.?	NC_000010.10:g.104155750G>A	(Likely) benign	2 labs	6271c240a6
11:65306717 LTBP3 G>A	11	65306717	65306717	G	A	LTBP3	c.3761-15C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65306717G>A	(Likely) benign	2 labs	62d2409b52
8:48732074 PRKDC TA>T	8	48732074	48732095	TA	T	PRKDC	c.9337-4del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48732095del	(Likely) benign	3 labs	62a806c192
10:121436095 BAG3 C>A	10	121436095	121436095	C	A	BAG3	c.1029C>A	NM_004281.4	NP_004272.2:p.(Arg343=)	NC_000010.10:g.121436095C>A	(Likely) benign	3 labs	62bc6d0990
9:26984324 IFT74 G>A	9	26984324	26984324	G	A	IFT74	c.375G>A	NM_001349928.2	NP_001336857.1:p.(Glu125=)	NC_000009.11:g.26984324G>A	(Likely) benign	2 labs	62be85714a
2:179479226 TTN G>A	2	179479226	179479226	G	A	TTN	c.49015C>T	NM_001267550.2	NP_001254479.2:p.(Arg16339Trp)	NC_000002.11:g.179479226G>A	VUS	2 labs	62c65b5420
13:32918675 BRCA2 T>A	13	32918675	32918675	T	A	BRCA2	c.6842-20T>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32918675T>A	(Likely) benign	5 labs	62dfb58cad
11:68696672 IGHMBP2 T>C	11	68696672	68696672	T	C	IGHMBP2	c.1082T>C	NM_002180.3	NP_002171.2:p.(Leu361Pro)	NC_000011.9:g.68696672T>C	(Likely) pathogenic	2 labs	62e2214e57
3:184049143 EIF4G1 C>T	3	184049143	184049143	C	T	EIF4G1	c.4254C>T	NM_182917.4	NP_886553.3:p.(Val1418=)	NC_000003.11:g.184049143C>T	(Likely) benign	2 labs	62e4261d6e
11:68207362 LRP5 C>T	11	68207362	68207362	C	T	LRP5	c.4466C>T	NM_002335.4	NP_002326.2:p.(Thr1489Met)	NC_000011.9:g.68207362C>T	VUS	2 labs	6327c5d974
6:152529260 SYNE1 G>A	6	152529260	152529260	G	A	SYNE1	c.22671C>T	NM_182961.4	NP_892006.3:p.(Ile7557=)	NC_000006.11:g.152529260G>A	(Likely) benign	2 labs	633dd63454
16:8905517 PMM2 T>C	16	8905517	8905517	T	C	PMM2	c.470T>C	NM_000303.3	NP_000294.1:p.(Phe157Ser)	NC_000016.9:g.8905517T>C	(Likely) pathogenic	4 labs	633e6ae40d
5:10261737 CCT5 G>A	5	10261737	10261737	G	A	CCT5	c.894G>A	NM_001306154.2	NP_001293083.1:p.(Leu298=)	NC_000005.9:g.10261737G>A	(Likely) benign	2 labs	637488e4ed
10:69407162 CTNNA3 G>A	10	69407162	69407162	G	A	CTNNA3	c.99+11C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69407162G>A	(Likely) benign	2 labs	6391bfb3a6
13:32890722 BRCA2 A>C	13	32890722	32890722	A	C	BRCA2	c.67+58A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890722A>C	(Likely) benign	2 labs	639bbec2a4
10:103990523 PITX3 GCCCAGGCCCTGCAGGGC>G	10	103990523	103990551	GCCCAGGCCCTGCAGGGC	G	PITX3	c.640_656del	NM_005029.4	NP_005020.1:p.(Ala214ArgfsTer42)	NC_000010.10:g.103990535_103990551del	VUS	2 labs	63a17036c1
11:121448090 SORL1 T>G	11	121448090	121448090	T	G	SORL1	c.3561T>G	NM_003105.6	NP_003096.2:p.(Ser1187=)	NC_000011.9:g.121448090T>G	(Likely) benign	2 labs	6406a21b39
21:47532372 COL6A2 C>T	21	47532372	47532372	C	T	COL6A2	c.595C>T	NM_001849.4	NP_001840.3:p.(Gln199Ter)	NC_000021.8:g.47532372C>T	(Likely) pathogenic	2 labs	64265ea04a
20:61992509 CHRNA4 T>C	20	61992509	61992509	T	C	CHRNA4	c.9A>G	NM_000744.7	NP_000735.1:p.(Leu3=)	NC_000020.10:g.61992509T>C	(Likely) benign	2 labs	642d0cd50e
11:6653790 DCHS1 G>A	11	6653790	6653790	G	A	DCHS1	c.2953C>T	NM_003737.4	NP_003728.1:p.(Arg985Trp)	NC_000011.9:g.6653790G>A	(Likely) benign	2 labs	643dde0fba
1:237947717 RYR2 C>T	1	237947717	237947717	C	T	RYR2	c.12705C>T	NM_001035.3	NP_001026.2:p.(Phe4235=)	NC_000001.10:g.237947717C>T	(Likely) benign	4 labs	646224e059
2:198359426 HSPD1 A>G	2	198359426	198359426	A	G	HSPD1	c.561T>C	NM_002156.5	NP_002147.2:p.(Ser187=)	NC_000002.11:g.198359426A>G	(Likely) benign	2 labs	64795fa41f
10:112540647 RBM20 C>T	10	112540647	112540647	C	T	RBM20	c.280C>T	NM_001134363.3	NP_001127835.2:p.(Leu94=)	NC_000010.10:g.112540647C>T	(Likely) benign	3 labs	64950e2c9b
19:15289850 NOTCH3 T>A	19	15289850	15289850	T	A	NOTCH3	c.3704A>T	NM_000435.3	NP_000426.2:p.(His1235Leu)	NC_000019.9:g.15289850T>A	(Likely) benign	2 labs	649fd2ca76
14:23862705 MYH6 A>G	14	23862705	23862705	A	G	MYH6	c.2951T>C	NM_002471.4	NP_002462.2:p.(Met984Thr)	NC_000014.8:g.23862705A>G	VUS	2 labs	64a64c7297
10:68979348 CTNNA3 T>C	10	68979348	68979348	T	C	CTNNA3	c.843+17A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68979348T>C	(Likely) benign	2 labs	6510bb5ad9
10:67680175 CTNNA3 C>T	10	67680175	67680175	C	T	CTNNA3	c.2601G>A	NM_013266.4	NP_037398.2:p.(Thr867=)	NC_000010.10:g.67680175C>T	(Likely) benign	2 labs	6546b7df6b
17:41215871 BRCA1 A>T	17	41215871	41215871	A	T	BRCA1	c.5152+20T>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215871A>T	(Likely) benign	5 labs	65560d950a
6:112457428 LAMA4 T>C	6	112457428	112457428	T	C	LAMA4	c.3311A>G	NM_001105206.3	NP_001098676.2:p.(Asn1104Ser)	NC_000006.11:g.112457428T>C	(Likely) benign	2 labs	6557c2c3ad
20:56284592 PMEPA1 C>CCGGCGG	20	56284592	56284610	C	CCGGCGG	PMEPA1	c.41_46dup	NM_020182.5	NP_064567.2:p.(Ala14_Ala15dup)	NC_000020.10:g.56284605_56284610dup	(Likely) benign	2 labs	656f04b069
6:32017192 TNXB G>A	6	32017192	32017192	G	A	TNXB	c.9606C>T	NM_019105.8	NP_061978.6:p.(Asp3202=)	NC_000006.11:g.32017192G>A	(Likely) benign	3 labs	6573794789
19:1220703 STK11 G>A	19	1220703	1220703	G	A	STK11	c.721G>A	NM_000455.5	NP_000446.1:p.(Ala241Thr)	NC_000019.9:g.1220703G>A	VUS	3 labs	6576dee1bc
12:56578886 SMARCC2 G>C	12	56578886	56578886	G	C	SMARCC2	c.327C>G	NM_001330288.2	NP_001317217.1:p.(Tyr109Ter)	NC_000012.11:g.56578886G>C	VUS	2 labs	657e514705
2:179414290 TTN A>C	2	179414290	179414290	A	C	TTN	c.92152+7T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179414290A>C	(Likely) benign	3 labs	65b0cd6db2
3:184041256 EIF4G1 G>C	3	184041256	184041256	G	C	EIF4G1	c.2152G>C	NM_182917.4	NP_886553.3:p.(Ala718Pro)	NC_000003.11:g.184041256G>C	(Likely) benign	2 labs	65aa3745c8
10:73572357 CDH23 G>A	10	73572357	73572357	G	A	CDH23	c.9501G>A	NM_022124.6	NP_071407.4:p.(Thr3167=)	NC_000010.10:g.73572357G>A	(Likely) benign	2 labs	65c099e73a
15:63362141 TPM1 A>C	15	63362141	63362141	A	C	TPM1	c.737A>C	NM_001018008.2	NP_001018008.1:p.(Ter246SerextTer2)	NC_000015.9:g.63362141A>C	VUS	2 labs	65d9acfa34
5:149274785 PDE6A G>T	5	149274785	149274785	G	T	PDE6A	c.1689C>A	NM_000440.3	NP_000431.2:p.(His563Gln)	NC_000005.9:g.149274785G>T	VUS	2 labs	65db819057
2:179528741 TTN C>G	2	179528741	179528741	C	G	TTN	c.36364+1G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528741C>G	VUS	2 labs	6610b00d06
7:150648789 KCNH2 T>C	7	150648789	150648789	T	C	KCNH2	c.1692A>G	NM_000238.4	NP_000229.1:p.(Leu564=)	NC_000007.13:g.150648789T>C	(Likely) benign	3 labs	661e5c8af9
11:48134465 PTPRJ T>C	11	48134465	48134465	T	C	PTPRJ	c.282T>C	NM_002843.4	NP_002834.3:p.(Asp94=)	NC_000011.9:g.48134465T>C	(Likely) benign	2 labs	6634eb5a05
X:31676211 DMD A>G	X	31676211	31676211	A	G	DMD	c.7923T>C	NM_004006.3	NP_003997.2:p.(Asn2641=)	NC_000023.10:g.31676211A>G	(Likely) benign	2 labs	663d1b4bf5
11:108122704 ATM A>G	11	108122704	108122704	A	G	ATM	c.1748A>G	NM_000051.4	NP_000042.3:p.(Tyr583Cys)	NC_000011.9:g.108122704A>G	VUS	3 labs	6642cc87ef
3:38951561 SCN11A T>C	3	38951561	38951561	T	C	SCN11A	c.1097A>G	NM_001349253.2	NP_001336182.1:p.(Gln366Arg)	NC_000003.11:g.38951561T>C	(Likely) benign	2 labs	6640e16c0a
1:236889330 ACTN2 C>T	1	236889330	236889330	C	T	ACTN2	c.536+10C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236889330C>T	(Likely) benign	3 labs	6646552241
3:38616833 SCN5A G>A	3	38616833	38616833	G	A	SCN5A	c.3621C>T	NM_198056.3	NP_932173.1:p.(Phe1207=)	NC_000003.11:g.38616833G>A	(Likely) benign	2 labs	66771ef940
1:94493901 ABCA4 T>C	1	94493901	94493901	T	C	ABCA4	c.4539+1100A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94493901T>C	(Likely) pathogenic	2 labs	6678ec0ebc
5:90008115 ADGRV1 T>G	5	90008115	90008115	T	G	ADGRV1	c.9054T>G	NM_032119.4	NP_115495.3:p.(Phe3018Leu)	NC_000005.9:g.90008115T>G	VUS	2 labs	66916bdad3
15:34529629 SLC12A6 C>T	15	34529629	34529629	C	T	SLC12A6	c.2925G>A	NM_133647.2	NP_598408.1:p.(Val975=)	NC_000015.9:g.34529629C>T	(Likely) benign	2 labs	66a29a4ded
7:42005007 GLI3 G>A	7	42005007	42005007	G	A	GLI3	c.3664C>T	NM_000168.6	NP_000159.3:p.(Pro1222Ser)	NC_000007.13:g.42005007G>A	(Likely) benign	2 labs	66c87ac3c0
10:90770554 FAS A>G	10	90770554	90770554	A	G	FAS	c.550A>G	NM_000043.6	NP_000034.1:p.(Ile184Val)	NC_000010.10:g.90770554A>G	(Likely) benign	2 labs	66dbc6505d
11:2797237 KCNQ1 G>A	11	2797237	2797237	G	A	KCNQ1	c.1638G>A	NM_000218.3	NP_000209.2:p.(Ser546=)	NC_000011.9:g.2797237G>A	(Likely) benign	2 labs	66e34d5860
16:2164369 PKD1 G>A	16	2164369	2164369	G	A	PKD1	c.2655C>T	NM_001009944.3	NP_001009944.3:p.(Cys885=)	NC_000016.9:g.2164369G>A	(Likely) benign	4 labs	6712643926
6:75804851 COL12A1 T>C	6	75804851	75804851	T	C	COL12A1	c.8622A>G	NM_004370.6	NP_004361.3:p.(Pro2874=)	NC_000006.11:g.75804851T>C	(Likely) benign	2 labs	672c510760
8:117868531 RAD21 TAAA>T	8	117868531	117868554	TAAA	T	RAD21	c.815-7_815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868552_117868554del	(Likely) benign	2 labs	6747c90e62
1:226923938 ITPKB A>C	1	226923938	226923938	A	C	ITPKB	c.1222T>G	NM_002221.4	NP_002212.3:p.(Ser408Ala)	NC_000001.10:g.226923938A>C	(Likely) benign	2 labs	6753a9ba2c
1:66058381 LEPR G>A	1	66058381	66058381	G	A	LEPR	c.536G>A	NM_001003679.3	NP_001003679.1:p.(Gly179Asp)	NC_000001.10:g.66058381G>A	(Likely) benign	2 labs	6756063141
7:92734065 SAMD9 T>C	7	92734065	92734065	T	C	SAMD9	c.1346A>G	NM_017654.4	NP_060124.2:p.(Asn449Ser)	NC_000007.13:g.92734065T>C	(Likely) benign	2 labs	675742c4f9
14:74946995 NPC2 T>G	14	74946995	74946995	T	G	NPC2	c.442-4A>C	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74946995T>G	(Likely) benign	2 labs	677439dfc8
2:44539792 SLC3A1 T>A	2	44539792	44539792	T	A	SLC3A1	c.1400T>A	NM_000341.4	NP_000332.2:p.(Met467Lys)	NC_000002.11:g.44539792T>A	(Likely) pathogenic	2 labs	678cdf0614
7:107334918 SLC26A4 T>G	7	107334918	107334918	T	G	SLC26A4	c.1334T>G	NM_000441.2	NP_000432.1:p.(Leu445Trp)	NC_000007.13:g.107334918T>G	(Likely) pathogenic	2 labs	67931e94c0
9:135211684 SETX T>C	9	135211684	135211684	T	C	SETX	c.717A>G	NM_015046.7	NP_055861.3:p.(Leu239=)	NC_000009.11:g.135211684T>C	(Likely) benign	2 labs	6794b9b4a6
3:37053550 MLH1 G>A	3	37053550	37053550	G	A	MLH1	c.637G>A	NM_000249.4	NP_000240.1:p.(Val213Met)	NC_000003.11:g.37053550G>A	(Likely) benign	5 labs	67b03b48c3
X:13779409 OFD1 A>AT	X	13779409	13779421	A	AT	OFD1	c.2387+91dup	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13779421dup	(Likely) benign	2 labs	67bcdce392
11:68201207 LRP5 G>A	11	68201207	68201207	G	A	LRP5	c.3901G>A	NM_002335.4	NP_002326.2:p.(Ala1301Thr)	NC_000011.9:g.68201207G>A	(Likely) benign	2 labs	67e25411d2
2:179612216 TTN T>C	2	179612216	179612216	T	C	TTN	c.14911A>G	NM_133379.5	NP_596870.2:p.(Ile4971Val)	NC_000002.11:g.179612216T>C	VUS	2 labs	680c93fbc9
17:41219804 BRCA1 T>C	17	41219804	41219804	T	C	BRCA1	c.4987-92A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219804T>C	(Likely) benign	4 labs	681e1447ca
2:189921758 COL5A2 A>G	2	189921758	189921758	A	G	COL5A2	c.2338-6T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189921758A>G	(Likely) benign	3 labs	683a396b36
2:179544070 TTN T>A	2	179544070	179544070	T	A	TTN	c.33738A>T	NM_001267550.2	NP_001254479.2:p.(Ala11246=)	NC_000002.11:g.179544070T>A	(Likely) benign	2 labs	683c0e7630
2:96953651 SNRNP200 T>C	2	96953651	96953651	T	C	SNRNP200	c.3315A>G	NM_014014.5	NP_054733.2:p.(Ala1105=)	NC_000002.11:g.96953651T>C	(Likely) benign	2 labs	6858f12a51
X:133512020 PHF6 AAATGT>A	X	133512020	133512028	AAATGT	A	PHF6	c.139-11_139-7del	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133512024_133512028del	(Likely) benign	2 labs	685ab49925
9:135211747 SETX C>G	9	135211747	135211747	C	G	SETX	c.654G>C	NM_001351527.2	NP_001338456.1:p.(Lys218Asn)	NC_000009.11:g.135211747C>G	VUS	2 labs	687b5d7b91
14:95574727 DICER1 C>T	14	95574727	95574727	C	T	DICER1	c.2370G>A	NM_177438.3	NP_803187.1:p.(Arg790=)	NC_000014.8:g.95574727C>T	(Likely) benign	3 labs	688dc356cd
17:17697101 RAI1 AG>A	17	17697101	17697102	AG	A	RAI1	c.840del	NM_030665.4	NP_109590.3:p.(Gln280HisfsTer84)	NC_000017.10:g.17697102del	(Likely) benign	4 labs	689f98d87e
3:38768342 SCN10A C>G	3	38768342	38768342	C	G	SCN10A	c.2842G>C	NM_006514.4	NP_006505.4:p.(Val948Leu)	NC_000003.11:g.38768342C>G	(Likely) benign	2 labs	68c5c4c037
3:38601887 SCN5A C>T	3	38601887	38601887	C	T	SCN5A	c.3996G>A	NM_198056.3	NP_932173.1:p.(Pro1332=)	NC_000003.11:g.38601887C>T	(Likely) benign	2 labs	68e3e00b88
1:3328358 PRDM16 T>C	1	3328358	3328358	T	C	PRDM16	c.1597T>C	NM_022114.4	NP_071397.3:p.(Ser533Pro)	NC_000001.10:g.3328358T>C	(Likely) benign	3 labs	6929b230dc
17:48275340 COL1A1 G>A	17	48275340	48275340	G	A	COL1A1	c.612C>T	NM_000088.4	NP_000079.2:p.(Pro204=)	NC_000017.10:g.48275340G>A	(Likely) benign	2 labs	6936dff8de
1:170508348 GORAB T>C	1	170508348	170508348	T	C	GORAB	c.62-3T>C	NM_152281.3	NP_689494.3:p.?	NC_000001.10:g.170508348T>C	(Likely) benign	2 labs	694b24e9cf
17:10438691 MYH2 C>T	17	10438691	10438691	C	T	MYH2	c.1975-9G>A	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10438691C>T	(Likely) benign	2 labs	69796db56b
22:41542753 EP300 A>G	22	41542753	41542753	A	G	EP300	c.2064A>G	NM_001429.4	NP_001420.2:p.(Leu688=)	NC_000022.10:g.41542753A>G	(Likely) benign	2 labs	69ba7149ec
2:179648507 TTN T>A	2	179648507	179648507	T	A	TTN	c.2781A>T	NM_001267550.2	NP_001254479.2:p.(Thr927=)	NC_000002.11:g.179648507T>A	(Likely) benign	2 labs	69c2812ce7
2:179425551 TTN G>A	2	179425551	179425551	G	A	TTN	c.85308C>T	NM_001267550.2	NP_001254479.2:p.(Ala28436=)	NC_000002.11:g.179425551G>A	(Likely) benign	2 labs	69d75641d9
17:39974378 FKBP10 T>G	17	39974378	39974378	T	G	FKBP10	c.429T>G	NM_021939.4	NP_068758.3:p.(Asp143Glu)	NC_000017.10:g.39974378T>G	VUS	2 labs	69e3aa4883
9:139399132 NOTCH1 C>T	9	139399132	139399132	C	T	NOTCH1	c.5011G>A	NM_017617.5	NP_060087.3:p.(Val1671Ile)	NC_000009.11:g.139399132C>T	(Likely) benign	4 labs	69fa2dcc2c
5:127671795 FBN2 T>C	5	127671795	127671795	T	C	FBN2	c.3609A>G	NM_001999.4	NP_001990.2:p.(Glu1203=)	NC_000005.9:g.127671795T>C	(Likely) benign	2 labs	69fa993fc5
13:32929309 BRCA2 A>G	13	32929309	32929309	A	G	BRCA2	c.7319A>G	NM_000059.4	NP_000050.3:p.(His2440Arg)	NC_000013.10:g.32929309A>G	(Likely) benign	6 labs	6a26c0b00f
2:179617922 TTN CAT>C	2	179617922	179617927	CAT	C	TTN	c.11255-17_11255-16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179617926_179617927del	(Likely) benign	3 labs	6a3082ccc9
1:116260532 CASQ2 A>C	1	116260532	116260532	A	C	CASQ2	c.784-17T>G	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116260532A>C	(Likely) benign	2 labs	6a356c68d5
9:130616567 ENG C>T	9	130616567	130616567	C	T	ENG	c.67+1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130616567C>T	(Likely) pathogenic	2 labs	6a3aaf5556
2:179613495 TTN G>A	2	179613495	179613495	G	A	TTN	c.13632C>T	NM_133379.5	NP_596870.2:p.(Asp4544=)	NC_000002.11:g.179613495G>A	(Likely) benign	2 labs	6a70457850
21:35821771 KCNE1 G>A	21	35821771	35821771	G	A	KCNE1	c.162C>T	NM_000219.6	NP_000210.2:p.(Phe54=)	NC_000021.8:g.35821771G>A	(Likely) benign	3 labs	6a7ba42892
2:179665290 TTN G>A	2	179665290	179665290	G	A	TTN	c.415C>T	NM_001267550.2	NP_001254479.2:p.(Arg139Trp)	NC_000002.11:g.179665290G>A	VUS	3 labs	6a9138e2bb
14:23855650 MYH6 G>A	14	23855650	23855650	G	A	MYH6	c.4833C>T	NM_002471.4	NP_002462.2:p.(Asn1611=)	NC_000014.8:g.23855650G>A	(Likely) benign	3 labs	6ac47126c8
17:10451055 MYH2 C>T	17	10451055	10451055	C	T	MYH2	c.183G>A	NM_001100112.2	NP_001093582.1:p.(Thr61=)	NC_000017.10:g.10451055C>T	(Likely) benign	2 labs	6acecbb532
7:143027948 CLCN1 G>A	7	143027948	143027948	G	A	CLCN1	c.937G>A	NM_000083.3	NP_000074.3:p.(Ala313Thr)	NC_000007.13:g.143027948G>A	(Likely) pathogenic	2 labs	6b321dd9ca
13:110866196 COL4A1 T>C	13	110866196	110866196	T	C	COL4A1	c.235-23A>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110866196T>C	(Likely) benign	2 labs	6b5618a7b2
14:29236734 FOXG1 G>GC	14	29236734	29236741	G	GC	FOXG1	c.256dup	NM_005249.5	NP_005240.3:p.(Gln86ProfsTer35)	NC_000014.8:g.29236741dup	(Likely) pathogenic	2 labs	6c1f9ce52c
3:148924059 CP C>G	3	148924059	148924059	C	G	CP	c.1104G>C	NM_000096.4	NP_000087.2:p.(Gly368=)	NC_000003.11:g.148924059C>G	(Likely) benign	2 labs	6c22fe0ce7
9:34513108 DNAI1 A>G	9	34513108	34513108	A	G	DNAI1	c.1502-2A>G	NM_001281428.2	NP_001268357.1:p.?	NC_000009.11:g.34513108A>G	(Likely) pathogenic	3 labs	6c53ec5066
7:128493866 FLNC C>T	7	128493866	128493866	C	T	FLNC	c.6459C>T	NM_001458.5	NP_001449.3:p.(Thr2153=)	NC_000007.13:g.128493866C>T	(Likely) benign	2 labs	6cb72e2c9b
1:161138933 PPOX C>G	1	161138933	161138933	C	G	PPOX	c.281C>G	NM_001350130.2	NP_001337059.1:p.(Pro94Arg)	NC_000001.10:g.161138933C>G	(Likely) benign	2 labs	6ce490bf4d
1:53676948 CPT2 G>A	1	53676948	53676948	G	A	CPT2	c.1602G>A	NM_000098.3	NP_000089.1:p.(Glu534=)	NC_000001.10:g.53676948G>A	(Likely) benign	3 labs	6cf7ef8e73
7:81591346 CACNA2D1 T>C	7	81591346	81591346	T	C	CACNA2D1	c.2837-7A>G	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81591346T>C	(Likely) benign	2 labs	6d0b81cd34
1:36932047 CSF3R C>T	1	36932047	36932047	C	T	CSF3R	c.2422G>A	NM_000760.4	NP_000751.1:p.(Glu808Lys)	NC_000001.10:g.36932047C>T	(Likely) benign	2 labs	6d82e714da
4:103557043 MANBA C>T	4	103557043	103557043	C	T	MANBA	c.2136G>A	NM_005908.4	NP_005899.3:p.(Ser712=)	NC_000004.11:g.103557043C>T	(Likely) benign	4 labs	6d89a50fbe
6:132172368 ENPP1 A>C	6	132172368	132172368	A	C	ENPP1	c.517A>C	NM_006208.3	NP_006199.2:p.(Lys173Gln)	NC_000006.11:g.132172368A>C	(Likely) benign	3 labs	6d8d882b72
22:40750289 ADSL A>T	22	40750289	40750289	A	T	ADSL	c.440A>T	NM_000026.4	NP_000017.1:p.(Lys147Met)	NC_000022.10:g.40750289A>T	(Likely) benign	2 labs	6d91ad15a2
17:44073973 MAPT T>C	17	44073973	44073973	T	C	MAPT	c.1770T>C	NM_001123066.4	NP_001116538.2:p.(Asn590=)	NC_000017.10:g.44073973T>C	(Likely) benign	3 labs	6da516c54b
19:50367448 PNKP G>A	19	50367448	50367448	G	A	PNKP	c.624C>T	NM_007254.4	NP_009185.2:p.(Ala208=)	NC_000019.9:g.50367448G>A	(Likely) benign	2 labs	6dae09254e
1:911595 PERM1 A>G	1	911595	911595	A	G	PERM1	c.2330T>C	NM_001369897.1	NP_001356826.1:p.(Val777Ala)	NC_000001.10:g.911595A>G	(Likely) benign	2 labs	6e0062507e
2:48026997 MSH6 C>T	2	48026997	48026997	C	T	MSH6	c.1875C>T	NM_000179.3	NP_000170.1:p.(Ser625=)	NC_000002.11:g.48026997C>T	(Likely) benign	2 labs	6e068317ac
22:51142280 SHANK3 C>T	22	51142280	51142280	C	T	SHANK3	c.1838-8C>T	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51142280C>T	(Likely) benign	2 labs	6e57f37f0b
17:42427619 GRN C>T	17	42427619	42427619	C	T	GRN	c.373C>T	NM_002087.4	NP_002078.1:p.(Gln125Ter)	NC_000017.10:g.42427619C>T	(Likely) pathogenic	2 labs	6e25103edf
2:179577419 TTN C>T	2	179577419	179577419	C	T	TTN	c.27328+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179577419C>T	(Likely) benign	2 labs	6e36d85c5a
6:70935654 COL9A1 A>G	6	70935654	70935654	A	G	COL9A1	c.2562T>C	NM_001851.6	NP_001842.3:p.(Pro854=)	NC_000006.11:g.70935654A>G	(Likely) benign	2 labs	6e5bb4c485
5:121412685 LOX G>A	5	121412685	121412685	G	A	LOX	c.643C>T	NM_002317.7	NP_002308.2:p.(Leu215=)	NC_000005.9:g.121412685G>A	(Likely) benign	3 labs	6e5e174a62
14:23871807 MYH6 G>C	14	23871807	23871807	G	C	MYH6	c.1007C>G	NM_002471.4	NP_002462.2:p.(Ala336Gly)	NC_000014.8:g.23871807G>C	VUS	6 labs	6ebe94adb5
7:91603056 AKAP9 C>T	7	91603056	91603056	C	T	AKAP9	c.80C>T	NM_005751.5	NP_005742.4:p.(Ser27Leu)	NC_000007.13:g.91603056C>T	(Likely) benign	4 labs	6eb8dadefd
12:993961 WNK1 C>A	12	993961	993961	C	A	WNK1	c.4771C>A	NM_001184985.2	NP_001171914.1:p.(Pro1591Thr)	NC_000012.11:g.993961C>A	VUS	2 labs	6ebac69e1f
5:176639216 NSD1 A>AT	5	176639216	176639217	A	AT	NSD1	c.3796+21dup	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176639217dup	(Likely) benign	2 labs	6eddfa29cf
8:24811064 NEFL AG>A	8	24811064	24811071	AG	A	NEFL	c.1412_1414=	NM_006158.5	NP_006149.2:p.(Pro471_Ser472=)	NC_000008.10:g.24811071del	(Likely) benign	2 labs	6edbc67ee8
17:78013764 CCDC40 GC>G	17	78013764	78013765	GC	G	CCDC40	c.248del	NM_017950.4	NP_060420.2:p.(Ala83ValfsTer84)	NC_000017.10:g.78013765del	(Likely) pathogenic	2 labs	6ee17fd09b
20:57415876 GNAS C>A	20	57415876	57415876	C	A	GNAS	c.715C>A	NM_016592.5	NP_057676.1:p.(Pro239Thr)	NC_000020.10:g.57415876C>A	(Likely) benign	2 labs	6ee7aaea2c
8:90960084 NBN C>T	8	90960084	90960084	C	T	NBN	c.1882G>A	NM_002485.5	NP_002476.2:p.(Glu628Lys)	NC_000008.10:g.90960084C>T	(Likely) benign	3 labs	6eed507cc6
22:24110014 CHCHD10 C>T	22	24110014	24110014	C	T	CHCHD10	c.41+7G>A	NM_001301339.2	NP_001288268.1:p.?	NC_000022.10:g.24110014C>T	(Likely) benign	3 labs	6eef8fa665
15:44876230 SPG11 C>T	15	44876230	44876230	C	T	SPG11	c.5648G>A	NM_025137.4	NP_079413.3:p.(Gly1883Glu)	NC_000015.9:g.44876230C>T	VUS	2 labs	6f052c0a5a
15:23892341 MAGEL2 A>G	15	23892341	23892341	A	G	MAGEL2	c.549T>C	NM_019066.5	NP_061939.3:p.(Pro183=)	NC_000015.9:g.23892341A>G	(Likely) benign	2 labs	6f53d71639
2:179611875 TTN A>G	2	179611875	179611875	A	G	TTN	c.15252T>C	NM_133379.5	NP_596870.2:p.(Tyr5084=)	NC_000002.11:g.179611875A>G	(Likely) benign	2 labs	6f5562a13e
16:15832512 MYH11 A>G	16	15832512	15832512	A	G	MYH11	c.3052T>C	NM_001040113.2	NP_001035202.1:p.(Leu1018=)	NC_000016.9:g.15832512A>G	(Likely) benign	3 labs	6f55bf062f
14:68159240 RDH11 C>T	14	68159240	68159240	C	T	RDH11	c.264G>A	NM_016026.4	NP_057110.3:p.(Thr88=)	NC_000014.8:g.68159240C>T	(Likely) benign	2 labs	6f636f22b9
14:23852541 MYH6 A>G	14	23852541	23852541	A	G	MYH6	c.5566-12T>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23852541A>G	(Likely) benign	2 labs	6f944a95ac
10:112572579 RBM20 G>T	10	112572579	112572579	G	T	RBM20	c.2424G>T	NM_001134363.3	NP_001127835.2:p.(Gly808=)	NC_000010.10:g.112572579G>T	(Likely) benign	3 labs	6fa0020c87
7:112112279 IFRD1 G>A	7	112112279	112112279	G	A	IFRD1	c.1047G>A	NM_001007245.3	NP_001007246.1:p.(Arg349=)	NC_000007.13:g.112112279G>A	(Likely) benign	2 labs	6faf318c0b
1:241676980 FH G>A	1	241676980	241676980	G	A	FH	c.301C>T	NM_000143.4	NP_000134.2:p.(Arg101Ter)	NC_000001.10:g.241676980G>A	(Likely) pathogenic	2 labs	6fe120fd62
1:26378362 TRIM63 C>T	1	26378362	26378362	C	T	TRIM63	c.*2G>A	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26378362C>T	(Likely) benign	3 labs	6ffdcd5cd2
10:69925538 MYPN C>T	10	69925538	69925538	C	T	MYPN	c.1563C>T	NM_032578.4	NP_115967.2:p.(Tyr521=)	NC_000010.10:g.69925538C>T	(Likely) benign	3 labs	701978b5a1
1:40766962 COL9A2 C>A	1	40766962	40766962	C	A	COL9A2	c.1962G>T	NM_001852.4	NP_001843.1:p.(Leu654=)	NC_000001.10:g.40766962C>A	(Likely) benign	2 labs	70217a7917
7:150674951 KCNH2 G>C	7	150674951	150674951	G	C	KCNH2	c.51C>G	NM_000238.4	NP_000229.1:p.(Thr17=)	NC_000007.13:g.150674951G>C	(Likely) benign	3 labs	706963ee42
19:12757477 MAN2B1 C>T	19	12757477	12757477	C	T	MAN2B1	c.2993G>A	NM_000528.4	NP_000519.2:p.(Arg998His)	NC_000019.9:g.12757477C>T	(Likely) benign	2 labs	707a7f288d
7:50595900 DDC T>C	7	50595900	50595900	T	C	DDC	c.649A>G	NM_001082971.2	NP_001076440.2:p.(Met217Val)	NC_000007.13:g.50595900T>C	(Likely) benign	2 labs	7081b9a693
18:21121026 NPC1 G>A	18	21121026	21121026	G	A	NPC1	c.2514+6C>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21121026G>A	(Likely) benign	2 labs	70a9eddf57
10:94413508 KIF11 G>C	10	94413508	94413508	G	C	KIF11	c.3126G>C	NM_004523.4	NP_004514.2:p.(Leu1042Phe)	NC_000010.10:g.94413508G>C	(Likely) benign	2 labs	70ca1e05b1
1:216592036 USH2A G>A	1	216592036	216592036	G	A	USH2A	c.486-15C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216592036G>A	(Likely) benign	2 labs	70dd9665be
7:138554343 KIAA1549 G>A	7	138554343	138554343	G	A	KIAA1549	c.4716C>T	NM_001164665.2	NP_001158137.1:p.(Ile1572=)	NC_000007.13:g.138554343G>A	(Likely) benign	2 labs	70e7b97fa7
2:212289001 ERBB4 G>A	2	212289001	212289001	G	A	ERBB4	c.2745C>T	NM_005235.3	NP_005226.1:p.(Thr915=)	NC_000002.11:g.212289001G>A	(Likely) benign	4 labs	70eaea84a8
13:32953921 BRCA2 A>G	13	32953921	32953921	A	G	BRCA2	c.8988A>G	NM_000059.4	NP_000050.3:p.(Leu2996=)	NC_000013.10:g.32953921A>G	(Likely) benign	2 labs	712ddd44ac
3:123451945 MYLK G>A	3	123451945	123451945	G	A	MYLK	c.1314C>T	NM_053025.4	NP_444253.3:p.(Ser438=)	NC_000003.11:g.123451945G>A	(Likely) benign	2 labs	7167003d44
10:92679937 ANKRD1 G>C	10	92679937	92679937	G	C	ANKRD1	c.196C>G	NM_014391.3	NP_055206.2:p.(Arg66Gly)	NC_000010.10:g.92679937G>C	(Likely) benign	2 labs	7167161401
19:54629957 PRPF31 C>T	19	54629957	54629957	C	T	PRPF31	c.910C>T	NM_015629.4	NP_056444.3:p.(Arg304Cys)	NC_000019.9:g.54629957C>T	VUS	3 labs	716e92c9b3
2:179399610 TTN A>C	2	179399610	179399610	A	C	TTN	c.101732T>G	NM_001267550.2	NP_001254479.2:p.(Leu33911Arg)	NC_000002.11:g.179399610A>C	VUS	2 labs	717f195564
8:42295022 SLC20A2 G>A	8	42295022	42295022	G	A	SLC20A2	c.1008C>T	NM_001257180.2	NP_001244109.1:p.(His336=)	NC_000008.10:g.42295022G>A	(Likely) benign	2 labs	71bb0e7560
16:88786063 PIEZO1 C>T	16	88786063	88786063	C	T	PIEZO1	c.6390G>A	NM_001142864.4	NP_001136336.2:p.(Thr2130=)	NC_000016.9:g.88786063C>T	(Likely) benign	2 labs	71bf63eb68
19:590366 HCN2 G>T	19	590366	590366	G	T	HCN2	c.421G>T	NM_001194.4	NP_001185.3:p.(Ala141Ser)	NC_000019.9:g.590366G>T	(Likely) benign	2 labs	71c639bcef
21:47411989 COL6A1 G>A	21	47411989	47411989	G	A	COL6A1	c.1182+3G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47411989G>A	(Likely) benign	3 labs	71cb8a9f25
12:32994100 PKP2 T>C	12	32994100	32994100	T	C	PKP2	c.1550A>G	NM_004572.4	NP_004563.2:p.(Asn517Ser)	NC_000012.11:g.32994100T>C	(Likely) benign	3 labs	71d06161b0
3:78711136 ROBO1 A>C	3	78711136	78711136	A	C	ROBO1	c.1980+7T>G	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78711136A>C	(Likely) benign	4 labs	71eba15421
6:35434083 FANCE G>A	6	35434083	35434083	G	A	FANCE	c.1572G>A	NM_021922.3	NP_068741.1:p.(Arg524=)	NC_000006.11:g.35434083G>A	(Likely) benign	2 labs	71ed6af54d
12:88523494 CEP290 C>G	12	88523494	88523494	C	G	CEP290	c.829G>C	NM_025114.4	NP_079390.3:p.(Glu277Gln)	NC_000012.11:g.88523494C>G	(Likely) benign	5 labs	7240acfc66
2:179611703 TTN C>T	2	179611703	179611703	C	T	TTN	c.15424G>A	NM_133379.5	NP_596870.2:p.(Gly5142Ser)	NC_000002.11:g.179611703C>T	(Likely) benign	2 labs	7242818bea
11:62383715 B3GAT3 G>A	11	62383715	62383715	G	A	B3GAT3	c.910-3C>T	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383715G>A	(Likely) benign	2 labs	72583d5b29
2:238249108 COL6A3 T>C	2	238249108	238249108	T	C	COL6A3	c.8451A>G	NM_004369.4	NP_004360.2:p.(Pro2817=)	NC_000002.11:g.238249108T>C	(Likely) benign	2 labs	7265fc9c4d
9:39149855 CNTNAP3 C>A	9	39149855	39149855	C	A	CNTNAP3	c.1597G>T	NM_033655.5	NP_387504.2:p.(Ala533Ser)	NC_000009.11:g.39149855C>A	(Likely) benign	2 labs	726a986f53
X:119760720 C1GALT1C1 C>T	X	119760720	119760720	C	T	C1GALT1C1	c.302G>A	NM_152692.5	NP_689905.1:p.(Ser101Asn)	NC_000023.10:g.119760720C>T	(Likely) benign	2 labs	726ac4b46a
3:8787573 CAV3 G>A	3	8787573	8787573	G	A	CAV3	c.*20G>A	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8787573G>A	(Likely) benign	2 labs	726f22be7f
15:66729181 MAP2K1 A>G	15	66729181	66729181	A	G	MAP2K1	c.389A>G	NM_002755.4	NP_002746.1:p.(Tyr130Cys)	NC_000015.9:g.66729181A>G	(Likely) pathogenic	2 labs	7279fc2148
14:23853923 MYH6 C>T	14	23853923	23853923	C	T	MYH6	c.5293G>A	NM_002471.4	NP_002462.2:p.(Ala1765Thr)	NC_000014.8:g.23853923C>T	VUS	3 labs	728978171a
16:88802748 PIEZO1 C>T	16	88802748	88802748	C	T	PIEZO1	c.1365G>A	NM_001142864.4	NP_001136336.2:p.(Thr455=)	NC_000016.9:g.88802748C>T	(Likely) benign	2 labs	72902237b5
22:29090074 CHEK2 C>T	22	29090074	29090074	C	T	CHEK2	c.1407G>A	NM_007194.4	NP_009125.1:p.(Val469=)	NC_000022.10:g.29090074C>T	(Likely) benign	3 labs	72d05b646d
10:95400694 PDE6C G>T	10	95400694	95400694	G	T	PDE6C	c.1755G>T	NM_006204.4	NP_006195.3:p.(Lys585Asn)	NC_000010.10:g.95400694G>T	(Likely) benign	2 labs	72dbb8df5b
9:35719508 TLN1 C>T	9	35719508	35719508	C	T	TLN1	c.1687+8G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35719508C>T	(Likely) benign	2 labs	72fa73088f
1:236924453 ACTN2 C>T	1	236924453	236924453	C	T	ACTN2	c.2506C>T	NM_001103.4	NP_001094.1:p.(Arg836Trp)	NC_000001.10:g.236924453C>T	VUS	2 labs	72fa939626
12:8975901 A2ML1 C>T	12	8975901	8975901	C	T	A2ML1	c.186C>T	NM_144670.6	NP_653271.3:p.(Thr62=)	NC_000012.11:g.8975901C>T	(Likely) benign	2 labs	734dc7842f
2:179411339 TTN G>A	2	179411339	179411339	G	A	TTN	c.94816C>T	NM_001267550.2	NP_001254479.2:p.(Arg31606Ter)	NC_000002.11:g.179411339G>A	(Likely) pathogenic	2 labs	7355aff574
X:132887665 GPC3 A>G	X	132887665	132887665	A	G	GPC3	c.876T>C	NM_004484.4	NP_004475.1:p.(Ile292=)	NC_000023.10:g.132887665A>G	(Likely) benign	3 labs	7355c36376
1:43213992 P3H1 G>A	1	43213992	43213992	G	A	P3H1	c.1721-4C>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43213992G>A	(Likely) benign	2 labs	73674b1a25
10:67829096 CTNNA3 A>G	10	67829096	67829096	A	G	CTNNA3	c.2129T>C	NM_013266.4	NP_037398.2:p.(Met710Thr)	NC_000010.10:g.67829096A>G	VUS	2 labs	736d4ead97
2:179469862 TTN A>G	2	179469862	179469862	A	G	TTN	c.54042T>C	NM_001267550.2	NP_001254479.2:p.(Leu18014=)	NC_000002.11:g.179469862A>G	(Likely) benign	2 labs	7378a81460
11:108099917 ATM A>G	11	108099917	108099917	A	G	ATM	c.198A>G	NM_000051.4	NP_000042.3:p.(Lys66=)	NC_000011.9:g.108099917A>G	(Likely) benign	2 labs	738358e8c6
17:63149548 RGS9 G>A	17	63149548	63149548	G	A	RGS9	c.66G>A	NM_003835.4	NP_003826.2:p.(Ala22=)	NC_000017.10:g.63149548G>A	(Likely) benign	2 labs	738ebf917f
15:85400933 ALPK3 C>T	15	85400933	85400933	C	T	ALPK3	c.2964C>T	NM_020778.5	NP_065829.4:p.(Thr988=)	NC_000015.9:g.85400933C>T	(Likely) benign	3 labs	73a7a56b52
1:215824086 USH2A C>T	1	215824086	215824086	C	T	USH2A	c.14191G>A	NM_206933.4	NP_996816.3:p.(Gly4731Arg)	NC_000001.10:g.215824086C>T	VUS	2 labs	73a9e1a80d
14:88454876 GALC A>G	14	88454876	88454876	A	G	GALC	c.118-9T>C	NM_001201402.2	NP_001188331.1:p.?	NC_000014.8:g.88454876A>G	(Likely) benign	2 labs	73da09248a
2:179642139 TTN C>A	2	179642139	179642139	C	A	TTN	c.4645+8G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179642139C>A	(Likely) benign	2 labs	73df6aeddd
6:26156843 H1-4 G>A	6	26156843	26156843	G	A	H1-4	c.225G>A	NM_005321.3	NP_005312.1:p.(Lys75=)	NC_000006.11:g.26156843G>A	(Likely) benign	2 labs	748ab800f0
2:179428284 TTN C>T	2	179428284	179428284	C	T	TTN	c.82575G>A	NM_001267550.2	NP_001254479.2:p.(Thr27525=)	NC_000002.11:g.179428284C>T	(Likely) benign	5 labs	74acdf4b71
4:190989798 MISSING G>C	4	190989798	190989798	G	C	MISSING				NC_000004.11:g.190989798G>C	(Likely) benign	2 labs	74f0fce30b
10:88428539 LDB3 C>T	10	88428539	88428539	C	T	LDB3	c.91C>T	NM_001171610.2	NP_001165081.1:p.(Arg31Trp)	NC_000010.10:g.88428539C>T	VUS	3 labs	751724f7c8
15:72104425 NR2E3 CA>C	15	72104425	72104426	CA	C	NR2E3	c.481del	NM_014249.4	NP_055064.1:p.(Thr161HisfsTer18)	NC_000015.9:g.72104426del	(Likely) pathogenic	2 labs	751f33b01d
2:179544333 TTN C>T	2	179544333	179544333	C	T	TTN	c.33657G>A	NM_001267550.2	NP_001254479.2:p.(Pro11219=)	NC_000002.11:g.179544333C>T	(Likely) benign	2 labs	755109f551
10:75830836 VCL G>A	10	75830836	75830836	G	A	VCL	c.494G>A	NM_014000.3	NP_054706.1:p.(Gly165Glu)	NC_000010.10:g.75830836G>A	VUS	2 labs	7558a537c7
4:88537495 DSPP C>A	4	88537495	88537495	C	A	DSPP	c.3681C>A	NM_014208.3	NP_055023.2:p.(Asp1227Glu)	NC_000004.11:g.88537495C>A	(Likely) benign	3 labs	755fd6daa9
1:78395131 NEXN A>C	1	78395131	78395131	A	C	NEXN	c.995A>C	NM_144573.4	NP_653174.3:p.(Glu332Ala)	NC_000001.10:g.78395131A>C	(Likely) benign	5 labs	757cb8febd
X:151336841 GABRA3 G>C	X	151336841	151336841	G	C	GABRA3	c.1338C>G	NM_000808.4	NP_000799.1:p.(Thr446=)	NC_000023.10:g.151336841G>C	(Likely) benign	2 labs	75912c0365
16:31193994 FUS T>C	16	31193994	31193994	T	C	FUS	c.190+9T>C	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31193994T>C	(Likely) benign	2 labs	759da3e189
9:136219307 SURF1 T>C	9	136219307	136219307	T	C	SURF1	c.745A>G	NM_003172.4	NP_003163.1:p.(Asn249Asp)	NC_000009.11:g.136219307T>C	VUS	3 labs	75a7a57be6
13:41639425 WBP4 TAA>T	13	41639425	41639446	TAA	T	WBP4	c.262+22_262+23del	NM_007187.5	NP_009118.1:p.?	NC_000013.10:g.41639445_41639446del	(Likely) benign	2 labs	75b9bfafee
1:100671867 DBT A>T	1	100671867	100671867	A	T	DBT	c.1210-10T>A	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671867A>T	(Likely) benign	2 labs	75babfd6b8
X:70443021 GJB1 A>G	X	70443021	70443021	A	G	GJB1				NC_000023.10:g.70443021A>G	VUS	2 labs	75cbc423c3
8:133909931 TG C>T	8	133909931	133909931	C	T	TG	c.3039C>T	NM_003235.5	NP_003226.4:p.(Asp1013=)	NC_000008.10:g.133909931C>T	(Likely) benign	2 labs	75e2cd120a
13:32953601 BRCA2 AC>A	13	32953601	32953603	AC	A	BRCA2	c.8904del	NM_000059.4	NP_000050.3:p.(Val2969CysfsTer7)	NC_000013.10:g.32953603del	(Likely) pathogenic	2 labs	75f93a56d4
2:73676847 ALMS1 T>C	2	73676847	73676847	T	C	ALMS1	c.3196T>C	NM_015120.4	NP_055935.4:p.(Ser1066Pro)	NC_000002.11:g.73676847T>C	(Likely) benign	4 labs	75eba5bfa9
7:128487931 FLNC C>T	7	128487931	128487931	C	T	FLNC	c.4456+13C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487931C>T	(Likely) benign	2 labs	75ed70c286
2:220283277 DES T>C	2	220283277	220283277	T	C	DES	c.93T>C	NM_001927.4	NP_001918.3:p.(Ser31=)	NC_000002.11:g.220283277T>C	(Likely) benign	4 labs	760def3670
2:73680207 ALMS1 C>T	2	73680207	73680207	C	T	ALMS1	c.6556C>T	NM_015120.4	NP_055935.4:p.(Pro2186Ser)	NC_000002.11:g.73680207C>T	(Likely) benign	3 labs	761dd991c6
13:32914104 BRCA2 G>A	13	32914104	32914104	G	A	BRCA2	c.5612G>A	NM_000059.4	NP_000050.3:p.(Ser1871Asn)	NC_000013.10:g.32914104G>A	(Likely) benign	2 labs	762b87cad4
9:35059790 VCP T>C	9	35059790	35059790	T	C	VCP	c.1704A>G	NM_007126.5	NP_009057.1:p.(Gln568=)	NC_000009.11:g.35059790T>C	(Likely) benign	4 labs	763a89f248
6:56418281 DST A>T	6	56418281	56418281	A	T	DST	c.8952T>A	NM_001144769.5	NP_001138241.1:p.(Phe2984Leu)	NC_000006.11:g.56418281A>T	VUS	2 labs	7651f22cb5
2:179635985 TTN G>A	2	179635985	179635985	G	A	TTN	c.8069C>T	NM_001267550.2	NP_001254479.2:p.(Thr2690Ile)	NC_000002.11:g.179635985G>A	(Likely) benign	3 labs	768a51995f
2:179472726 TTN A>T	2	179472726	179472726	A	T	TTN	c.52788T>A	NM_001267550.2	NP_001254479.2:p.(Asn17596Lys)	NC_000002.11:g.179472726A>T	VUS	2 labs	769099ce5d
2:148716428 ORC4 T>C	2	148716428	148716428	T	C	ORC4	c.233A>G	NM_001190879.3	NP_001177808.1:p.(Asn78Ser)	NC_000002.11:g.148716428T>C	(Likely) benign	2 labs	76ab665cc2
11:76804775 CAPN5 C>T	11	76804775	76804775	C	T	CAPN5	c.213C>T	NM_004055.5	NP_004046.2:p.(His71=)	NC_000011.9:g.76804775C>T	(Likely) benign	2 labs	76acc74310
10:92678743 ANKRD1 A>AT	10	92678743	92678744	A	AT	ANKRD1	c.346-15_346-14insA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678743_92678744insT	(Likely) benign	2 labs	76dfcd5361
2:179476237 TTN T>C	2	179476237	179476237	T	C	TTN	c.50719A>G	NM_001267550.2	NP_001254479.2:p.(Ile16907Val)	NC_000002.11:g.179476237T>C	(Likely) benign	3 labs	76fb3a0d4d
13:32914371 BRCA2 G>A	13	32914371	32914371	G	A	BRCA2	c.5879G>A	NM_000059.4	NP_000050.3:p.(Cys1960Tyr)	NC_000013.10:g.32914371G>A	(Likely) benign	3 labs	772772ccc3
5:149509394 PDGFRB C>T	5	149509394	149509394	C	T	PDGFRB	c.1505G>A	NM_002609.4	NP_002600.1:p.(Arg502Gln)	NC_000005.9:g.149509394C>T	(Likely) benign	3 labs	773db4e425
15:85383394 ALPK3 A>G	15	85383394	85383394	A	G	ALPK3	c.884A>G	NM_020778.5	NP_065829.4:p.(Tyr295Cys)	NC_000015.9:g.85383394A>G	(Likely) benign	2 labs	7741177a54
X:135957692 RBMX C>T	X	135957692	135957692	C	T	RBMX	c.269G>A	NM_001164803.2	NP_001158275.1:p.(Arg90His)	NC_000023.10:g.135957692C>T	(Likely) benign	2 labs	775475088a
3:38592602 SCN5A G>A	3	38592602	38592602	G	A	SCN5A	c.5261C>T	NM_198056.3	NP_932173.1:p.(Thr1754Ile)	NC_000003.11:g.38592602G>A	VUS	2 labs	777bef9ff3
18:57364452 CCBE1 G>T	18	57364452	57364452	G	T	CCBE1	c.123C>A	NM_133459.4	NP_597716.1:p.(Asp41Glu)	NC_000018.9:g.57364452G>T	(Likely) benign	2 labs	778bd737b6
2:39294787 SOS1 T>G	2	39294787	39294787	T	G	SOS1	c.195A>C	NM_005633.4	NP_005624.2:p.(Arg65=)	NC_000002.11:g.39294787T>G	(Likely) benign	2 labs	779982c68a
3:53752344 CACNA1D C>T	3	53752344	53752344	C	T	CACNA1D	c.1407C>T	NM_000720.4	NP_000711.1:p.(Ser469=)	NC_000003.11:g.53752344C>T	(Likely) benign	2 labs	779a4f894f
3:52018149 ACY1 C>G	3	52018149	52018149	C	G	ACY1	c.69C>G	NM_000666.3	NP_000657.1:p.(Arg23=)	NC_000003.11:g.52018149C>G	(Likely) benign	2 labs	77a0b2a9ec
15:23891586 MAGEL2 G>A	15	23891586	23891586	G	A	MAGEL2	c.1304C>T	NM_019066.5	NP_061939.3:p.(Pro435Leu)	NC_000015.9:g.23891586G>A	(Likely) benign	4 labs	77a65e1ccd
17:62026748 SCN4A C>T	17	62026748	62026748	C	T	SCN4A	c.2989+5G>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62026748C>T	(Likely) benign	2 labs	77af1e1af9
14:23248112 SLC7A7 A>G	14	23248112	23248112	A	G	SLC7A7	c.660T>C	NM_001126106.4	NP_001119578.1:p.(Gly220=)	NC_000014.8:g.23248112A>G	(Likely) benign	2 labs	77c9ff4315
X:57936708 ZXDA G>T	X	57936708	57936708	G	T	ZXDA	c.147C>A	NM_007156.5	NP_009087.1:p.(Gly49=)	NC_000023.10:g.57936708G>T	(Likely) benign	2 labs	77dc97f0cb
20:42815024 JPH2 C>T	20	42815024	42815024	C	T	JPH2	c.322G>A	NM_020433.5	NP_065166.2:p.(Gly108Ser)	NC_000020.10:g.42815024C>T	VUS	2 labs	77e76185b8
7:73474367 ELN T>A	7	73474367	73474367	T	A	ELN	c.1566T>A	NM_000501.4	NP_000492.2:p.(Gly522=)	NC_000007.13:g.73474367T>A	(Likely) benign	3 labs	77ef0f3f87
11:68703764 IGHMBP2 C>T	11	68703764	68703764	C	T	IGHMBP2	c.1816C>T	NM_002180.3	NP_002171.2:p.(Arg606Cys)	NC_000011.9:g.68703764C>T	VUS	2 labs	7827f28159
2:238247734 COL6A3 C>G	2	238247734	238247734	C	G	COL6A3	c.8491G>C	NM_004369.4	NP_004360.2:p.(Asp2831His)	NC_000002.11:g.238247734C>G	(Likely) benign	2 labs	7829a2d519
18:77474605 CTDP1 G>A	18	77474605	77474605	G	A	CTDP1	c.1145G>A	NM_004715.5	NP_004706.3:p.(Arg382Gln)	NC_000018.9:g.77474605G>A	VUS	2 labs	782e73431e
2:179418961 TTN G>A	2	179418961	179418961	G	A	TTN	c.88895-18C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179418961G>A	(Likely) benign	3 labs	7832203dd6
2:179458370 TTN G>A	2	179458370	179458370	G	A	TTN	c.58657C>T	NM_001267550.2	NP_001254479.2:p.(Arg19553Trp)	NC_000002.11:g.179458370G>A	VUS	2 labs	788b09f536
1:201330429 TNNT2 T>C	1	201330429	201330429	T	C	TNNT2	c.758A>G	NM_001276347.2	NP_001263276.1:p.(Lys253Arg)	NC_000001.10:g.201330429T>C	(Likely) benign	5 labs	78b874b739
5:38493874 LIFR T>C	5	38493874	38493874	T	C	LIFR	c.1899A>G	NM_001127671.2	NP_001121143.1:p.(Ile633Met)	NC_000005.9:g.38493874T>C	(Likely) benign	2 labs	78c04c7072
3:37061929 MLH1 A>G	3	37061929	37061929	A	G	MLH1	c.1013A>G	NM_000249.4	NP_000240.1:p.(Asn338Ser)	NC_000003.11:g.37061929A>G	(Likely) benign	2 labs	78d5d80592
2:241660450 KIF1A G>A	2	241660450	241660450	G	A	KIF1A	c.4749C>T	NM_001244008.2	NP_001230937.1:p.(Ser1583=)	NC_000002.11:g.241660450G>A	(Likely) benign	2 labs	79149388ce
6:56483871 DST G>A	6	56483871	56483871	G	A	DST	c.4961C>T	NM_001723.7	NP_001714.1:p.(Ala1654Val)	NC_000006.11:g.56483871G>A	VUS	2 labs	7923b3fa15
16:68847376 CDH1 A>G	16	68847376	68847376	A	G	CDH1	c.1298A>G	NM_004360.5	NP_004351.1:p.(Asp433Gly)	NC_000016.9:g.68847376A>G	(Likely) benign	2 labs	7926dd4aa9
2:179517255 TTN C>T	2	179517255	179517255	C	T	TTN	c.31755G>A	NM_133378.4	NP_596869.4:p.(Pro10585=)	NC_000002.11:g.179517255C>T	(Likely) benign	2 labs	7927889c40
15:48777608 FBN1 C>T	15	48777608	48777608	C	T	FBN1	c.3675G>A	NM_000138.5	NP_000129.3:p.(Pro1225=)	NC_000015.9:g.48777608C>T	(Likely) benign	2 labs	796fa97d1b
4:6302921 WFS1 C>T	4	6302921	6302921	C	T	WFS1	c.1399C>T	NM_006005.3	NP_005996.2:p.(Leu467=)	NC_000004.11:g.6302921C>T	(Likely) benign	2 labs	796ff270db
9:79834890 VPS13A A>G	9	79834890	79834890	A	G	VPS13A	c.775A>G	NM_033305.3	NP_150648.2:p.(Asn259Asp)	NC_000009.11:g.79834890A>G	(Likely) benign	3 labs	79b95d9ee4
10:75865026 VCL G>A	10	75865026	75865026	G	A	VCL	c.2349G>A	NM_014000.3	NP_054706.1:p.(Val783=)	NC_000010.10:g.75865026G>A	(Likely) benign	4 labs	79b842fc2a
1:3301700 PRDM16 G>A	1	3301700	3301700	G	A	PRDM16	c.439-16G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301700G>A	(Likely) benign	2 labs	79dd4eed06
7:128483927 FLNC G>A	7	128483927	128483927	G	A	FLNC	c.2889G>A	NM_001458.5	NP_001449.3:p.(Pro963=)	NC_000007.13:g.128483927G>A	(Likely) benign	3 labs	7a15e2a13e
1:11850750 MTHFR G>A	1	11850750	11850750	G	A	MTHFR	c.1958C>T	NM_005957.5	NP_005948.3:p.(Thr653Met)	NC_000001.10:g.11850750G>A	(Likely) benign	3 labs	7a172701c7
3:193332718 OPA1 A>G	3	193332718	193332718	A	G	OPA1	c.239A>G	NM_130837.3	NP_570850.2:p.(Tyr80Cys)	NC_000003.11:g.193332718A>G	(Likely) benign	2 labs	7a43accffc
17:39913754 JUP G>A	17	39913754	39913754	G	A	JUP	c.1959C>T	NM_001352773.2	NP_001339702.1:p.(Ser653=)	NC_000017.10:g.39913754G>A	(Likely) benign	2 labs	7a448a1353
4:184612553 TRAPPC11 G>C	4	184612553	184612553	G	C	TRAPPC11	c.1978G>C	NM_021942.6	NP_068761.4:p.(Val660Leu)	NC_000004.11:g.184612553G>C	(Likely) benign	2 labs	7a4f70b10c
3:52442057 BAP1 T>G	3	52442057	52442057	T	G	BAP1	c.292A>C	NM_004656.4	NP_004647.1:p.(Ser98Arg)	NC_000003.11:g.52442057T>G	(Likely) pathogenic	2 labs	7a5080262e
2:179419779 TTN C>T	2	179419779	179419779	C	T	TTN	c.88407G>A	NM_001267550.2	NP_001254479.2:p.(Ala29469=)	NC_000002.11:g.179419779C>T	(Likely) benign	2 labs	7a799e11dd
11:2683318 KCNQ1 G>T	11	2683318	2683318	G	T	KCNQ1	c.1514+7G>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683318G>T	(Likely) benign	3 labs	7a7e34b499
10:69966602 MYPN G>A	10	69966602	69966602	G	A	MYPN	c.3735G>A	NM_032578.4	NP_115967.2:p.(Thr1245=)	NC_000010.10:g.69966602G>A	(Likely) benign	2 labs	7ac5fdf21a
7:30668191 GARS1 C>T	7	30668191	30668191	C	T	GARS1	c.1715C>T	NM_002047.4	NP_002038.2:p.(Pro572Leu)	NC_000007.13:g.30668191C>T	VUS	2 labs	7acd1442c2
19:38993372 RYR1 A>G	19	38993372	38993372	A	G	RYR1	c.7835+5A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38993372A>G	(Likely) benign	2 labs	7ad663fc7f
19:39010053 RYR1 C>T	19	39010053	39010053	C	T	RYR1	c.10218C>T	NM_000540.3	NP_000531.2:p.(Tyr3406=)	NC_000019.9:g.39010053C>T	(Likely) benign	2 labs	7ad7fabab5
2:96970562 SNRNP200 C>G	2	96970562	96970562	C	G	SNRNP200	c.90G>C	NM_014014.5	NP_054733.2:p.(Arg30=)	NC_000002.11:g.96970562C>G	(Likely) benign	2 labs	7ae4497694
17:74470523 RHBDF2 G>A	17	74470523	74470523	G	A	RHBDF2	c.1483C>T	NM_024599.5	NP_078875.4:p.(Arg495Trp)	NC_000017.10:g.74470523G>A	(Likely) benign	2 labs	7ae46c2904
14:23858653 MYH6 A>G	14	23858653	23858653	A	G	MYH6	c.3927T>C	NM_002471.4	NP_002462.2:p.(Ser1309=)	NC_000014.8:g.23858653A>G	(Likely) benign	3 labs	7ae946b2cf
17:6607318 SLC13A5 C>T	17	6607318	6607318	C	T	SLC13A5	c.426G>A	NM_177550.5	NP_808218.1:p.(Thr142=)	NC_000017.10:g.6607318C>T	(Likely) benign	3 labs	7ae9c70a26
15:31221493 FAN1 C>T	15	31221493	31221493	C	T	FAN1	c.2680C>T	NM_014967.5	NP_055782.3:p.(Pro894Ser)	NC_000015.9:g.31221493C>T	(Likely) benign	3 labs	7b5dc70027
6:123591015 TRDN T>C	6	123591015	123591015	T	C	TRDN	c.1721-4A>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123591015T>C	(Likely) benign	2 labs	7b8de98531
1:23236997 EPHB2 A>G	1	23236997	23236997	A	G	EPHB2	c.2625A>G	NM_017449.5	NP_059145.2:p.(Gln875=)	NC_000001.10:g.23236997A>G	(Likely) benign	2 labs	7ba1814118
19:15296403 NOTCH3 C>T	19	15296403	15296403	C	T	NOTCH3	c.2039G>A	NM_000435.3	NP_000426.2:p.(Arg680His)	NC_000019.9:g.15296403C>T	(Likely) benign	2 labs	7bd5c82fde
11:124754934 ROBO4 C>T	11	124754934	124754934	C	T	ROBO4	c.3001+3G>A	NM_019055.6	NP_061928.4:p.?	NC_000011.9:g.124754934C>T	(Likely) benign	2 labs	7be833b124
11:66620127 PC C>T	11	66620127	66620127	C	T	PC	c.1608G>A	NM_001040716.2	NP_001035806.1:p.(Pro536=)	NC_000011.9:g.66620127C>T	(Likely) benign	2 labs	7c01f565d8
8:10469802 RP1L1 C>G	8	10469802	10469802	C	G	RP1L1	c.1806G>C	NM_178857.6	NP_849188.4:p.(Thr602=)	NC_000008.10:g.10469802C>G	(Likely) benign	2 labs	7c83e27a10
X:46713068 RP2 C>T	X	46713068	46713068	C	T	RP2	c.260C>T	NM_006915.3	NP_008846.2:p.(Thr87Ile)	NC_000023.10:g.46713068C>T	(Likely) benign	3 labs	7cc93de8b7
8:134042112 TG G>T	8	134042112	134042112	G	T	TG	c.7083G>T	NM_003235.5	NP_003226.4:p.(Ala2361=)	NC_000008.10:g.134042112G>T	(Likely) benign	2 labs	7d11e70a43
16:75674252 KARS1 TA>T	16	75674252	75674270	TA	T	KARS1	c.307-6del	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75674270del	(Likely) benign	4 labs	7d162441c9
6:7581011 DSP G>T	6	7581011	7581011	G	T	DSP	c.4588G>T	NM_004415.4	NP_004406.2:p.(Val1530Phe)	NC_000006.11:g.7581011G>T	(Likely) benign	2 labs	7d188bb764
19:16590030 CALR3 C>A	19	16590030	16590030	C	A	CALR3	c.1067G>T	NM_145046.5	NP_659483.2:p.(Arg356Leu)	NC_000019.9:g.16590030C>A	(Likely) benign	3 labs	7d9e95cd8a
2:163128883 IFIH1 G>A	2	163128883	163128883	G	A	IFIH1	c.2469C>T	NM_022168.4	NP_071451.2:p.(Ala823=)	NC_000002.11:g.163128883G>A	(Likely) benign	2 labs	7df93395d6
11:65635542 EFEMP2 G>A	11	65635542	65635542	G	A	EFEMP2	c.975-15C>T	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65635542G>A	(Likely) benign	2 labs	7e3f0d3faf
17:19555854 ALDH3A2 A>G	17	19555854	19555854	A	G	ALDH3A2	c.386-6A>G	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19555854A>G	(Likely) benign	3 labs	7e60b3f662
1:197297616 CRB1 C>G	1	197297616	197297616	C	G	CRB1	c.135C>G	NM_201253.3	NP_957705.1:p.(Cys45Trp)	NC_000001.10:g.197297616C>G	VUS	3 labs	7e9226e9e9
1:11863057 MTHFR G>A	1	11863057	11863057	G	A	MTHFR	c.117C>T	NM_005957.5	NP_005948.3:p.(Pro39=)	NC_000001.10:g.11863057G>A	(Likely) benign	3 labs	7e95196241
2:179474016 TTN G>A	2	179474016	179474016	G	A	TTN	c.52021C>T	NM_001267550.2	NP_001254479.2:p.(Arg17341Ter)	NC_000002.11:g.179474016G>A	(Likely) pathogenic	2 labs	7e95a47811
15:23086364 NIPA1 GGCC>G	15	23086364	23086390	GGCC	G	NIPA1	c.45_47del	NM_144599.5	NP_653200.2:p.(Ala16del)	NC_000015.9:g.23086388_23086390del	(Likely) benign	4 labs	7ea1e24cd3
9:107556793 ABCA1 T>TAAA	9	107556793	107556811	T	TAAA	ABCA1	c.5383-5_5383-3dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556809_107556811dup	(Likely) benign	2 labs	7eada8d254
15:31197584 FAN1 G>A	15	31197584	31197584	G	A	FAN1	c.718G>A	NM_014967.5	NP_055782.3:p.(Glu240Lys)	NC_000015.9:g.31197584G>A	(Likely) benign	2 labs	7ebadc3589
11:68707193 IGHMBP2 G>A	11	68707193	68707193	G	A	IGHMBP2	c.2976G>A	NM_002180.3	NP_002171.2:p.(Gly992=)	NC_000011.9:g.68707193G>A	(Likely) benign	2 labs	7ebdd8d209
7:128470787 FLNC G>A	7	128470787	128470787	G	A	FLNC	c.96G>A	NM_001458.5	NP_001449.3:p.(Ala32=)	NC_000007.13:g.128470787G>A	(Likely) benign	2 labs	7ed18f877e
X:70586311 TAF1 C>G	X	70586311	70586311	C	G	TAF1	c.87C>G	NM_001286074.2	NP_001273003.2:p.(Ala29=)	NC_000023.10:g.70586311C>G	(Likely) benign	2 labs	7efbf9d0fb
19:17918776 B3GNT3 A>C	19	17918776	17918776	A	C	B3GNT3	c.160A>C	NM_014256.4	NP_055071.2:p.(Thr54Pro)	NC_000019.9:g.17918776A>C	(Likely) benign	2 labs	7f09e875cf
6:112443309 LAMA4 G>A	6	112443309	112443309	G	A	LAMA4	c.4383C>T	NM_001105206.3	NP_001098676.2:p.(Asn1461=)	NC_000006.11:g.112443309G>A	(Likely) benign	2 labs	7f3dd7f165
3:38663892 SCN5A C>T	3	38663892	38663892	C	T	SCN5A	c.481G>A	NM_001099404.2	NP_001092874.1:p.(Glu161Lys)	NC_000003.11:g.38663892C>T	(Likely) pathogenic	3 labs	7f758a5f3a
2:179578730 TTN G>A	2	179578730	179578730	G	A	TTN	c.26655C>T	NM_001267550.2	NP_001254479.2:p.(Ser8885=)	NC_000002.11:g.179578730G>A	(Likely) benign	2 labs	7f79301e85
19:15271626 NOTCH3 A>G	19	15271626	15271626	A	G	NOTCH3	c.6813T>C	NM_000435.3	NP_000426.2:p.(Pro2271=)	NC_000019.9:g.15271626A>G	(Likely) benign	2 labs	7f93d7f21d
2:179460229 TTN C>T	2	179460229	179460229	C	T	TTN	c.57847+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460229C>T	(Likely) benign	3 labs	7fa1424f9e
19:17088196 CPAMD8 C>G	19	17088196	17088196	C	G	CPAMD8	c.1740G>C	NM_015692.5	NP_056507.3:p.(Glu580Asp)	NC_000019.9:g.17088196C>G	(Likely) benign	2 labs	7fa6274a8e
5:13845040 DNAH5 A>G	5	13845040	13845040	A	G	DNAH5	c.5177T>C	NM_001369.3	NP_001360.1:p.(Leu1726Pro)	NC_000005.9:g.13845040A>G	(Likely) pathogenic	2 labs	7fba0e81ef
4:126372323 FAT4 A>G	4	126372323	126372323	A	G	FAT4	c.10158A>G	NM_001291303.3	NP_001278232.1:p.(Ala3386=)	NC_000004.11:g.126372323A>G	(Likely) benign	3 labs	7fc1b97bef
18:21148944 NPC1 A>C	18	21148944	21148944	A	C	NPC1	c.306T>G	NM_000271.5	NP_000262.2:p.(Tyr102Ter)	NC_000018.9:g.21148944A>C	(Likely) pathogenic	2 labs	7fc78b4617
4:100532602 MTTP G>A	4	100532602	100532602	G	A	MTTP	c.1981G>A	NM_000253.4	NP_000244.2:p.(Gly661Ser)	NC_000004.11:g.100532602G>A	(Likely) benign	2 labs	7fc9316aed
8:94808123 TMEM67 T>A	8	94808123	94808123	T	A	TMEM67	c.1774-6T>A	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94808123T>A	(Likely) benign	2 labs	7fdd3dc8de
3:38949631 SCN11A G>C	3	38949631	38949631	G	C	SCN11A	c.1300-18C>G	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38949631G>C	(Likely) benign	2 labs	7fe3f33b22
17:56772566 RAD51C C>G	17	56772566	56772566	C	G	RAD51C	c.404+16C>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56772566C>G	(Likely) benign	2 labs	8005bcae64
8:62460768 ASPH C>T	8	62460768	62460768	C	T	ASPH	c.1627-1G>A	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62460768C>T	(Likely) pathogenic	2 labs	8009b3718c
4:9246894 USP17L17 G>C	4	9246894	9246894	G	C	USP17L17	c.1290G>C	NM_001256857.1	NP_001243786.1:p.(Gln430His)	NC_000004.11:g.9246894G>C	(Likely) benign	2 labs	8033ff76c9
11:22249088 ANO5 G>A	11	22249088	22249088	G	A	ANO5	c.604G>A	NM_213599.3	NP_998764.1:p.(Glu202Lys)	NC_000011.9:g.22249088G>A	(Likely) benign	3 labs	808e0656cc
7:33376148 BBS9 T>C	7	33376148	33376148	T	C	BBS9	c.1112T>C	NM_198428.3	NP_940820.1:p.(Val371Ala)	NC_000007.13:g.33376148T>C	VUS	2 labs	8119dcf343
11:62469971 BSCL2 T>C	11	62469971	62469971	T	C	BSCL2	c.263A>G	NM_032667.6	NP_116056.3:p.(Asn88Ser)	NC_000011.9:g.62469971T>C	(Likely) pathogenic	2 labs	809fa38d83
11:66299223 BBS1 G>A	11	66299223	66299223	G	A	BBS1	c.1695+10G>A	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66299223G>A	(Likely) benign	3 labs	80b00448a0
1:237038008 MTR T>TAA	1	237038008	237038022	T	TAA	MTR	c.2474-5_2474-4dup	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038021_237038022dup	(Likely) benign	2 labs	80e2a808b3
2:25463531 DNMT3A G>A	2	25463531	25463531	G	A	DNMT3A	c.2151C>T	NM_022552.5	NP_072046.2:p.(Asn717=)	NC_000002.11:g.25463531G>A	(Likely) benign	2 labs	8118a12714
1:237961409 RYR2 C>T	1	237961409	237961409	C	T	RYR2	c.14029C>T	NM_001035.3	NP_001026.2:p.(Leu4677=)	NC_000001.10:g.237961409C>T	(Likely) benign	4 labs	811e1f25b3
5:95767798 PCSK1 A>G	5	95767798	95767798	A	G	PCSK1	c.28T>C	NM_001177875.2	NP_001171346.1:p.(Phe10Leu)	NC_000005.9:g.95767798A>G	(Likely) benign	2 labs	811b44dfb9
7:112096073 IFRD1 T>C	7	112096073	112096073	T	C	IFRD1	c.216T>C	NM_001007245.3	NP_001007246.1:p.(Asp72=)	NC_000007.13:g.112096073T>C	(Likely) benign	2 labs	811f7d962e
19:10265725 DNMT1 G>A	19	10265725	10265725	G	A	DNMT1	c.1500C>T	NM_001130823.3	NP_001124295.1:p.(Ala500=)	NC_000019.9:g.10265725G>A	(Likely) benign	2 labs	812ec13725
2:233712225 GIGYF2 C>CCG	2	233712225	233712227	C	CCG	GIGYF2	c.3692_3693insGC	NM_001103147.2	NP_001096617.1:p.(Gln1232HisfsTer25)	NC_000002.11:g.233712226_233712227insGC	(Likely) benign	2 labs	8139073ce4
6:157099402 ARID1B C>CCAG	6	157099402	157099425	C	CCAG	ARID1B	c.609_611dup	NM_001371656.1	NP_001358585.1:p.(Gln214dup)	NC_000006.11:g.157099423_157099425dup	(Likely) benign	3 labs	81668e04e5
17:79495605 FSCN2 C>T	17	79495605	79495605	C	T	FSCN2	c.48C>T	NM_001077182.3	NP_001070650.1:p.(Leu16=)	NC_000017.10:g.79495605C>T	(Likely) benign	2 labs	818a206ef6
8:10470222 RP1L1 G>A	8	10470222	10470222	G	A	RP1L1	c.1386C>T	NM_178857.6	NP_849188.4:p.(Pro462=)	NC_000008.10:g.10470222G>A	(Likely) benign	2 labs	819b6e8eb1
17:44060807 MAPT G>A	17	44060807	44060807	G	A	MAPT	c.637G>A	NM_001123066.4	NP_001116538.2:p.(Gly213Arg)	NC_000017.10:g.44060807G>A	(Likely) benign	2 labs	81ed869c49
10:55944972 PCDH15 G>A	10	55944972	55944972	G	A	PCDH15	c.1377C>T	NM_001142771.2	NP_001136243.1:p.(Val459=)	NC_000010.10:g.55944972G>A	(Likely) benign	2 labs	820898adff
4:619685 PDE6B C>T	4	619685	619685	C	T	PDE6B	c.270C>T	NM_000283.4	NP_000274.3:p.(Asp90=)	NC_000004.11:g.619685C>T	(Likely) benign	2 labs	8235ab9618
3:38674720 SCN5A G>A	3	38674720	38674720	G	A	SCN5A	c.79C>T	NM_198056.3	NP_932173.1:p.(Arg27Cys)	NC_000003.11:g.38674720G>A	VUS	2 labs	826b061aea
11:108151707 ATM T>A	11	108151707	108151707	T	A	ATM	c.3403-15T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151707T>A	(Likely) benign	5 labs	8273787cfe
10:71128330 HK1 C>T	10	71128330	71128330	C	T	HK1	c.639C>T	NM_001322365.2	NP_001309294.1:p.(Ser213=)	NC_000010.10:g.71128330C>T	(Likely) benign	2 labs	8275d55634
6:129634255 LAMA2 G>A	6	129634255	129634255	G	A	LAMA2	c.3411+13G>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129634255G>A	(Likely) benign	3 labs	8293d21f77
12:57975700 KIF5A C>T	12	57975700	57975700	C	T	KIF5A	c.2957C>T	NM_004984.4	NP_004975.2:p.(Pro986Leu)	NC_000012.11:g.57975700C>T	(Likely) benign	3 labs	828cd964ab
2:179440875 TTN C>T	2	179440875	179440875	C	T	TTN	c.69984G>A	NM_001267550.2	NP_001254479.2:p.(Ala23328=)	NC_000002.11:g.179440875C>T	(Likely) benign	2 labs	829ac29c7c
12:111351973 MYL2 C>CAG	12	111351973	111351975	C	CAG	MYL2	c.274+16_274+17insCT	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351974_111351975insGA	(Likely) benign	2 labs	82a311cb03
8:1830924 ARHGEF10 C>CTGCGGGTCTTCT	8	1830924	1830928	C	CTGCGGGTCTTCT	ARHGEF10	c.1150+12_1150+13insGGGTCTTCTTGC	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1830927_1830928insGGGTCTTCTTGC	(Likely) benign	2 labs	82dd6d9d5c
9:79996964 VPS13A G>A	9	79996964	79996964	G	A	VPS13A	c.9150G>A	NM_033305.3	NP_150648.2:p.(Pro3050=)	NC_000009.11:g.79996964G>A	(Likely) benign	2 labs	831d5c66a4
3:24164621 THRB G>A	3	24164621	24164621	G	A	THRB	c.1145-5C>T	NM_001252634.2	NP_001239563.1:p.?	NC_000003.11:g.24164621G>A	(Likely) benign	2 labs	832a02ce23
22:51064692 ARSA C>T	22	51064692	51064692	C	T	ARSA	c.869G>A	NM_000487.6	NP_000478.3:p.(Arg290His)	NC_000022.10:g.51064692C>T	(Likely) pathogenic	2 labs	8365dd53db
19:1220573 STK11 G>A	19	1220573	1220573	G	A	STK11	c.598-7G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220573G>A	(Likely) benign	2 labs	83664e2358
5:10261764 CCT5 C>G	5	10261764	10261764	C	G	CCT5	c.921C>G	NM_001306154.2	NP_001293083.1:p.(Ile307Met)	NC_000005.9:g.10261764C>G	(Likely) benign	2 labs	83bee936ac
1:36937701 CSF3R T>C	1	36937701	36937701	T	C	CSF3R	c.1037A>G	NM_000760.4	NP_000751.1:p.(Gln346Arg)	NC_000001.10:g.36937701T>C	(Likely) benign	2 labs	83bef42631
1:78395165 NEXN G>A	1	78395165	78395165	G	A	NEXN	c.1029G>A	NM_144573.4	NP_653174.3:p.(Ala343=)	NC_000001.10:g.78395165G>A	(Likely) benign	2 labs	8401c1b924
7:33195332 BBS9 C>T	7	33195332	33195332	C	T	BBS9	c.55+18C>T	NM_001348038.3	NP_001334967.1:p.?	NC_000007.13:g.33195332C>T	(Likely) benign	2 labs	83e354b629
16:68863619 CDH1 C>T	16	68863619	68863619	C	T	CDH1	c.2358C>T	NM_004360.5	NP_004351.1:p.(Asp786=)	NC_000016.9:g.68863619C>T	(Likely) benign	2 labs	83f6dfb2a2
13:32906513 BRCA2 G>T	13	32906513	32906513	G	T	BRCA2	c.898G>T	NM_000059.4	NP_000050.3:p.(Val300Leu)	NC_000013.10:g.32906513G>T	(Likely) benign	2 labs	8460b9e4e4
16:12009530 GSPT1 C>CCCG	16	12009530	12009562	C	CCCG	GSPT1	c.45_47dup	NM_002094.4	NP_002085.3:p.(Gly16dup)	NC_000016.9:g.12009560_12009562dup	(Likely) benign	2 labs	846d3c1e1a
6:56392340 DST G>A	6	56392340	56392340	G	A	DST	c.11516C>T	NM_001144769.5	NP_001138241.1:p.(Thr3839Ile)	NC_000006.11:g.56392340G>A	VUS	2 labs	8474d63ff5
3:11400019 ATG7 T>C	3	11400019	11400019	T	C	ATG7	c.1412T>C	NM_006395.3	NP_006386.1:p.(Val471Ala)	NC_000003.11:g.11400019T>C	(Likely) benign	2 labs	848d4fd7fa
8:94777845 TMEM67 A>T	8	94777845	94777845	A	T	TMEM67	c.622A>T	NM_153704.6	NP_714915.3:p.(Arg208Ter)	NC_000008.10:g.94777845A>T	(Likely) pathogenic	4 labs	84c9cfa522
4:126329789 FAT4 T>C	4	126329789	126329789	T	C	FAT4	c.5760T>C	NM_001291303.3	NP_001278232.1:p.(Asp1920=)	NC_000004.11:g.126329789T>C	(Likely) benign	3 labs	84cf8c7bad
6:33406300 SYNGAP1 T>C	6	33406300	33406300	T	C	SYNGAP1	c.1491T>C	NM_006772.3	NP_006763.2:p.(Tyr497=)	NC_000006.11:g.33406300T>C	(Likely) benign	2 labs	84dbd368ce
6:80816461 BCKDHB A>G	6	80816461	80816461	A	G	BCKDHB	c.51A>G	NM_183050.4	NP_898871.1:p.(Ala17=)	NC_000006.11:g.80816461A>G	(Likely) benign	2 labs	851205739f
19:40903436 PRX G>T	19	40903436	40903436	G	T	PRX	c.823C>A	NM_181882.3	NP_870998.2:p.(Leu275Ile)	NC_000019.9:g.40903436G>T	(Likely) benign	3 labs	851d38479d
19:33954877 PEPD C>T	19	33954877	33954877	C	T	PEPD	c.624+16G>A	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33954877C>T	(Likely) benign	2 labs	853d67ecf9
5:73205717 ARHGEF28 C>T	5	73205717	73205717	C	T	ARHGEF28	c.4642C>T	NM_001080479.3	NP_001073948.2:p.(Pro1548Ser)	NC_000005.9:g.73205717C>T	(Likely) benign	2 labs	85771e56cf
8:145009356 PLEC G>A	8	145009356	145009356	G	A	PLEC	c.1129+10C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145009356G>A	(Likely) benign	3 labs	85d7846285
1:227076671 PSEN2 T>C	1	227076671	227076671	T	C	PSEN2	c.708T>C	NM_000447.3	NP_000438.2:p.(Ser236=)	NC_000001.10:g.227076671T>C	(Likely) benign	2 labs	85fab2e0ae
3:38671840 SCN5A G>A	3	38671840	38671840	G	A	SCN5A	c.354C>T	NM_001099404.2	NP_001092874.1:p.(His118=)	NC_000003.11:g.38671840G>A	(Likely) benign	4 labs	862164b6d4
5:90059182 ADGRV1 G>T	5	90059182	90059182	G	T	ADGRV1	c.12181G>T	NM_032119.4	NP_115495.3:p.(Val4061Phe)	NC_000005.9:g.90059182G>T	(Likely) benign	3 labs	861c24210c
6:112537586 LAMA4 C>T	6	112537586	112537586	C	T	LAMA4	c.280G>A	NM_001105206.3	NP_001098676.2:p.(Gly94Ser)	NC_000006.11:g.112537586C>T	(Likely) benign	4 labs	864303f209
2:47705637 MSH2 A>G	2	47705637	47705637	A	G	MSH2	c.2437A>G	NM_000251.3	NP_000242.1:p.(Met813Val)	NC_000002.11:g.47705637A>G	(Likely) benign	2 labs	864852d90e
8:100880545 VPS13B G>C	8	100880545	100880545	G	C	VPS13B	c.11319G>C	NM_017890.5	NP_060360.3:p.(Pro3773=)	NC_000008.10:g.100880545G>C	(Likely) benign	2 labs	864eddf53b
3:42251577 TRAK1 C>CGGA	3	42251577	42251609	C	CGGA	TRAK1	c.2093_2095dup	NM_001265608.2	NP_001252537.1:p.(Glu698dup)	NC_000003.11:g.42251607_42251609dup	(Likely) benign	2 labs	865fcffba1
6:112493872 LAMA4 A>G	6	112493872	112493872	A	G	LAMA4	c.1492T>C	NM_001105206.3	NP_001098676.2:p.(Tyr498His)	NC_000006.11:g.112493872A>G	(Likely) benign	3 labs	8660011f79
14:102463566 DYNC1H1 C>T	14	102463566	102463566	C	T	DYNC1H1	c.3759C>T	NM_001376.5	NP_001367.2:p.(Arg1253=)	NC_000014.8:g.102463566C>T	(Likely) benign	2 labs	8665e1227c
19:54634824 PRPF31 C>G	19	54634824	54634824	C	G	PRPF31	c.1461C>G	NM_015629.4	NP_056444.3:p.(Leu487=)	NC_000019.9:g.54634824C>G	(Likely) benign	2 labs	868828b21a
18:28662896 DSC2 G>A	18	28662896	28662896	G	A	DSC2	c.1073C>T	NM_004949.5	NP_004940.1:p.(Thr358Ile)	NC_000018.9:g.28662896G>A	(Likely) benign	4 labs	86a4c54d10
15:85401593 ALPK3 A>G	15	85401593	85401593	A	G	ALPK3	c.3624A>G	NM_020778.5	NP_065829.4:p.(Pro1208=)	NC_000015.9:g.85401593A>G	(Likely) benign	2 labs	86a61deb49
6:32017295 TNXB C>G	6	32017295	32017295	C	G	TNXB	c.9503G>C	NM_019105.8	NP_061978.6:p.(Gly3168Ala)	NC_000006.11:g.32017295C>G	VUS	2 labs	86d04fa150
8:17927327 ASAH1 T>C	8	17927327	17927327	T	C	ASAH1	c.277A>G	NM_177924.5	NP_808592.2:p.(Ile93Val)	NC_000008.10:g.17927327T>C	(Likely) benign	2 labs	86d9549675
X:153222121 HCFC1 C>T	X	153222121	153222121	C	T	HCFC1	c.2590G>A	NM_005334.3	NP_005325.2:p.(Ala864Thr)	NC_000023.10:g.153222121C>T	(Likely) benign	4 labs	86f040bd31
14:76173980 TTLL5 G>A	14	76173980	76173980	G	A	TTLL5	c.670G>A	NM_015072.5	NP_055887.3:p.(Val224Met)	NC_000014.8:g.76173980G>A	VUS	2 labs	86ed0745bf
2:179614411 TTN G>A	2	179614411	179614411	G	A	TTN	c.12716C>T	NM_133379.5	NP_596870.2:p.(Ala4239Val)	NC_000002.11:g.179614411G>A	(Likely) benign	2 labs	8725171639
7:92118654 PEX1 G>A	7	92118654	92118654	G	A	PEX1	c.3096C>T	NM_001282678.2	NP_001269607.1:p.(His1032=)	NC_000007.13:g.92118654G>A	(Likely) benign	2 labs	87355e3ba4
6:7559597 DSP C>T	6	7559597	7559597	C	T	DSP	c.561C>T	NM_004415.4	NP_004406.2:p.(Val187=)	NC_000006.11:g.7559597C>T	(Likely) benign	3 labs	87992c4c37
1:160281729 COPA A>G	1	160281729	160281729	A	G	COPA	c.1005T>C	NM_004371.4	NP_004362.2:p.(Tyr335=)	NC_000001.10:g.160281729A>G	(Likely) benign	2 labs	87b0ab411d
19:55663209 TNNI3 T>G	19	55663209	55663209	T	G	TNNI3	c.626A>C	NM_000363.5	NP_000354.4:p.(Glu209Ala)	NC_000019.9:g.55663209T>G	(Likely) pathogenic	4 labs	87bc3283a6
15:45403699 DUOX2 C>T	15	45403699	45403699	C	T	DUOX2	c.598G>A	NM_014080.5	NP_054799.4:p.(Gly200Arg)	NC_000015.9:g.45403699C>T	(Likely) benign	2 labs	87bd98ce86
14:23898280 MYH7 C>G	14	23898280	23898280	C	G	MYH7	c.1291G>C	NM_000257.4	NP_000248.2:p.(Val431Leu)	NC_000014.8:g.23898280C>G	VUS	3 labs	87c138506d
15:48719757 FBN1 G>C	15	48719757	48719757	G	C	FBN1	c.7204+7C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48719757G>C	(Likely) benign	3 labs	87c1e10d86
16:57286172 ARL2BP G>A	16	57286172	57286172	G	A	ARL2BP	c.485G>A	NM_012106.4	NP_036238.1:p.(Arg162Gln)	NC_000016.9:g.57286172G>A	(Likely) benign	2 labs	87d015abb4
6:56351973 DST G>A	6	56351973	56351973	G	A	DST	c.14619C>T	NM_001144769.5	NP_001138241.1:p.(Asn4873=)	NC_000006.11:g.56351973G>A	(Likely) benign	2 labs	87d85744bb
2:179549987 TTN C>T	2	179549987	179549987	C	T	TTN	c.32463G>A	NM_001267550.2	NP_001254479.2:p.(Pro10821=)	NC_000002.11:g.179549987C>T	(Likely) benign	2 labs	8815a5afa4
19:10292698 DNMT1 A>G	19	10292698	10292698	A	G	DNMT1	c.117+19T>C	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10292698A>G	(Likely) benign	2 labs	881cc7a071
19:15295790 NOTCH3 G>C	19	15295790	15295790	G	C	NOTCH3	c.2337C>G	NM_000435.3	NP_000426.2:p.(Pro779=)	NC_000019.9:g.15295790G>C	(Likely) benign	2 labs	882f2fe37a
1:236902596 ACTN2 G>A	1	236902596	236902596	G	A	ACTN2	c.253-6G>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236902596G>A	(Likely) benign	2 labs	8851a0bf42
8:10468801 RP1L1 C>T	8	10468801	10468801	C	T	RP1L1	c.2807G>A	NM_178857.6	NP_849188.4:p.(Gly936Glu)	NC_000008.10:g.10468801C>T	(Likely) benign	2 labs	8852fc3925
17:59760861 BRIP1 G>A	17	59760861	59760861	G	A	BRIP1	c.3546C>T	NM_032043.3	NP_114432.2:p.(Ala1182=)	NC_000017.10:g.59760861G>A	(Likely) benign	2 labs	88552101e8
19:17119353 CPAMD8 C>T	19	17119353	17119353	C	T	CPAMD8	c.521G>A	NM_015692.5	NP_056507.3:p.(Arg174Gln)	NC_000019.9:g.17119353C>T	(Likely) benign	2 labs	88552e83e8
14:102507911 DYNC1H1 C>G	14	102507911	102507911	C	G	DYNC1H1	c.11942C>G	NM_001376.5	NP_001367.2:p.(Thr3981Arg)	NC_000014.8:g.102507911C>G	(Likely) benign	4 labs	8855cb9f8e
6:56481864 DST G>A	6	56481864	56481864	G	A	DST	c.6401C>T	NM_001723.7	NP_001714.1:p.(Thr2134Met)	NC_000006.11:g.56481864G>A	(Likely) benign	3 labs	886bec0b14
10:119026566 SLC18A2 T>C	10	119026566	119026566	T	C	SLC18A2	c.1122+20T>C	NM_003054.6	NP_003045.2:p.?	NC_000010.10:g.119026566T>C	(Likely) benign	2 labs	887124ef92
9:139324187 INPP5E C>T	9	139324187	139324187	C	T	INPP5E	c.1872G>A	NM_001318502.2	NP_001305431.1:p.(Glu624=)	NC_000009.11:g.139324187C>T	(Likely) benign	3 labs	8874fcbb29
10:92678706 ANKRD1 C>T	10	92678706	92678706	C	T	ANKRD1	c.369G>A	NM_014391.3	NP_055206.2:p.(Thr123=)	NC_000010.10:g.92678706C>T	(Likely) benign	2 labs	8878052992
15:48414116 SLC24A5 C>T	15	48414116	48414116	C	T	SLC24A5	c.184C>T	NM_205850.3	NP_995322.1:p.(Gln62Ter)	NC_000015.9:g.48414116C>T	(Likely) pathogenic	3 labs	88ac90dc7f
8:100155382 VPS13B G>A	8	100155382	100155382	G	A	VPS13B	c.1832G>A	NM_017890.5	NP_060360.3:p.(Arg611Lys)	NC_000008.10:g.100155382G>A	(Likely) benign	4 labs	8907f57e43
X:41333886 NYX C>T	X	41333886	41333886	C	T	NYX	c.1180C>T	NM_022567.2	NP_072089.1:p.(Leu394Phe)	NC_000023.10:g.41333886C>T	(Likely) benign	2 labs	891043107a
19:50796960 MYH14 C>T	19	50796960	50796960	C	T	MYH14	c.5469+16C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50796960C>T	(Likely) benign	2 labs	891a35911c
1:74835270 TNNI3K G>A	1	74835270	74835270	G	A	TNNI3K	c.1667+1G>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74835270G>A	VUS	2 labs	893f73c28e
1:185976299 HMCN1 C>G	1	185976299	185976299	C	G	HMCN1	c.4515C>G	NM_031935.3	NP_114141.2:p.(Asp1505Glu)	NC_000001.10:g.185976299C>G	(Likely) benign	2 labs	8941c58129
5:125887715 ALDH7A1 T>G	5	125887715	125887715	T	G	ALDH7A1	c.1315A>C	NM_001182.5	NP_001173.2:p.(Lys439Gln)	NC_000005.9:g.125887715T>G	(Likely) benign	2 labs	895260fe06
4:55973932 KDR A>C	4	55973932	55973932	A	C	KDR	c.1384T>G	NM_002253.3	NP_002244.1:p.(Leu462Val)	NC_000004.11:g.55973932A>C	(Likely) benign	2 labs	8961df0965
10:68940148 CTNNA3 C>T	10	68940148	68940148	C	T	CTNNA3	c.974G>A	NM_013266.4	NP_037398.2:p.(Arg325Gln)	NC_000010.10:g.68940148C>T	VUS	2 labs	896f0ca03b
14:105175957 INF2 A>G	14	105175957	105175957	A	G	INF2	c.2053A>G	NM_001031714.4	NP_001026884.3:p.(Ile685Val)	NC_000014.8:g.105175957A>G	(Likely) benign	2 labs	89b84484ec
1:236890987 ACTN2 T>C	1	236890987	236890987	T	C	ACTN2	c.546T>C	NM_001103.4	NP_001094.1:p.(Asp182=)	NC_000001.10:g.236890987T>C	(Likely) benign	3 labs	89dedc609a
5:89925363 ADGRV1 G>A	5	89925363	89925363	G	A	ADGRV1	c.1839+7G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89925363G>A	(Likely) benign	3 labs	89f4b6ba79
13:32900933 BRCA2 T>A	13	32900933	32900933	T	A	BRCA2	c.631+183T>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900933T>A	(Likely) benign	3 labs	8a0164b66f
16:17211834 XYLT1 G>A	16	17211834	17211834	G	A	XYLT1	c.2226C>T	NM_022166.4	NP_071449.1:p.(Val742=)	NC_000016.9:g.17211834G>A	(Likely) benign	2 labs	8a03a8ce9b
9:116152891 ALAD A>G	9	116152891	116152891	A	G	ALAD	c.463T>C	NM_000031.6	NP_000022.3:p.(Leu155=)	NC_000009.11:g.116152891A>G	(Likely) benign	2 labs	8a07508440
9:100616700 FOXE1 AGCCGCCGCC>A	9	100616700	100616733	AGCCGCCGCC	A	FOXE1	c.529_537del	NM_004473.4	NP_004464.2:p.(Ala177_Ala179del)	NC_000009.11:g.100616725_100616733del	(Likely) benign	2 labs	8a67ac5b3b
15:73615938 HCN4 C>A	15	73615938	73615938	C	A	HCN4	c.2496G>T	NM_005477.3	NP_005468.1:p.(Leu832=)	NC_000015.9:g.73615938C>A	(Likely) benign	2 labs	8a7a4bce11
16:15851846 MYH11 G>A	16	15851846	15851846	G	A	MYH11	c.1434C>T	NM_001040113.2	NP_001035202.1:p.(Phe478=)	NC_000016.9:g.15851846G>A	(Likely) benign	2 labs	8a8d8283a4
9:131670113 LRRC8A G>A	9	131670113	131670113	G	A	LRRC8A	c.670G>A	NM_001127244.2	NP_001120716.1:p.(Val224Met)	NC_000009.11:g.131670113G>A	VUS	2 labs	8ab2246812
4:126412848 FAT4 A>G	4	126412848	126412848	A	G	FAT4	c.14877A>G	NM_001291303.3	NP_001278232.1:p.(Ala4959=)	NC_000004.11:g.126412848A>G	(Likely) benign	2 labs	8abab5af03
14:23855645 MYH6 A>G	14	23855645	23855645	A	G	MYH6	c.4838T>C	NM_002471.4	NP_002462.2:p.(Val1613Ala)	NC_000014.8:g.23855645A>G	(Likely) benign	3 labs	8abd0747f4
11:68154188 LRP5 G>A	11	68154188	68154188	G	A	LRP5	c.1412+8G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68154188G>A	(Likely) benign	2 labs	8ac4794a9c
11:61205158 SDHAF2 G>A	11	61205158	61205158	G	A	SDHAF2	c.98G>A	NM_017841.4	NP_060311.1:p.(Arg33His)	NC_000011.9:g.61205158G>A	(Likely) benign	2 labs	8ad6804e3e
11:119213441 C1QTNF5 C>T	11	119213441	119213441	C	T	C1QTNF5	c.-1381-4G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119213441C>T	(Likely) benign	2 labs	8ae3c6bbb2
1:216538426 USH2A A>T	1	216538426	216538426	A	T	USH2A	c.653T>A	NM_206933.4	NP_996816.3:p.(Val218Glu)	NC_000001.10:g.216538426A>T	(Likely) pathogenic	2 labs	8af6264187
2:179597311 TTN C>T	2	179597311	179597311	C	T	TTN	c.16477G>A	NM_001267550.2	NP_001254479.2:p.(Gly5493Ser)	NC_000002.11:g.179597311C>T	VUS	3 labs	8b0b774be9
18:72346751 ZNF407 C>T	18	72346751	72346751	C	T	ZNF407	c.3776C>T	NM_017757.3	NP_060227.2:p.(Ser1259Leu)	NC_000018.9:g.72346751C>T	(Likely) benign	2 labs	8b0cb62f8a
X:48681597 HDAC6 G>C	X	48681597	48681597	G	C	HDAC6	c.2788G>C	NM_001321226.2	NP_001308155.1:p.(Gly930Arg)	NC_000023.10:g.48681597G>C	(Likely) benign	2 labs	8b1368dc7c
2:179483364 TTN A>T	2	179483364	179483364	A	T	TTN	c.46913T>A	NM_001267550.2	NP_001254479.2:p.(Val15638Glu)	NC_000002.11:g.179483364A>T	VUS	2 labs	8b57e9f916
6:112537679 LAMA4 G>A	6	112537679	112537679	G	A	LAMA4	c.196-9C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112537679G>A	(Likely) benign	2 labs	8b5f788346
9:35683148 TPM2 C>T	9	35683148	35683148	C	T	TPM2	c.*8G>A	NM_001301227.2	NP_001288156.1:p.?	NC_000009.11:g.35683148C>T	(Likely) benign	3 labs	8bbb7eab61
16:23646261 PALB2 G>A	16	23646261	23646261	G	A	PALB2	c.1606C>T	NM_024675.4	NP_078951.2:p.(Leu536=)	NC_000016.9:g.23646261G>A	(Likely) benign	3 labs	8bdba475fd
3:38764998 SCN10A A>G	3	38764998	38764998	A	G	SCN10A	c.3275T>C	NM_006514.4	NP_006505.4:p.(Leu1092Pro)	NC_000003.11:g.38764998A>G	(Likely) benign	2 labs	8c003fe2fb
2:212578379 ERBB4 TA>T	2	212578379	212578393	TA	T	ERBB4	c.884-7del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578393del	(Likely) benign	3 labs	8c06c6a3f6
2:47630468 MSH2 C>G	2	47630468	47630468	C	G	MSH2	c.138C>G	NM_000251.3	NP_000242.1:p.(His46Gln)	NC_000002.11:g.47630468C>G	(Likely) benign	2 labs	8c3435508d
2:96944047 SNRNP200 G>A	2	96944047	96944047	G	A	SNRNP200	c.5538C>T	NM_014014.5	NP_054733.2:p.(Ile1846=)	NC_000002.11:g.96944047G>A	(Likely) benign	2 labs	8c740dfca2
13:32906456 BRCA2 G>A	13	32906456	32906456	G	A	BRCA2	c.841G>A	NM_000059.4	NP_000050.3:p.(Asp281Asn)	NC_000013.10:g.32906456G>A	(Likely) benign	2 labs	8c76421ed4
10:13152400 OPTN T>A	10	13152400	13152400	T	A	OPTN	c.293T>A	NM_001008211.1	NP_001008212.1:p.(Met98Lys)	NC_000010.10:g.13152400T>A	(Likely) benign	3 labs	8c9e911da3
17:39973305 FKBP10 C>G	17	39973305	39973305	C	G	FKBP10	c.246-5C>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39973305C>G	(Likely) benign	2 labs	8caa121bc6
7:107323945 SLC26A4 A>G	7	107323945	107323945	A	G	SLC26A4	c.964A>G	NM_000441.2	NP_000432.1:p.(Asn322Asp)	NC_000007.13:g.107323945A>G	(Likely) benign	2 labs	8caaf0fa22
12:21355629 SLCO1B1 A>G	12	21355629	21355629	A	G	SLCO1B1	c.1331+9A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21355629A>G	(Likely) benign	2 labs	8cbf6d771f
1:100661987 DBT GAAAA>G	1	100661987	100662015	GAAAA	G	DBT	c.1282-13_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662012_100662015del	(Likely) benign	2 labs	8d195230c3
10:53921718 PRKG1 A>G	10	53921718	53921718	A	G	PRKG1	c.1026A>G	NM_001098512.3	NP_001091982.1:p.(Lys342=)	NC_000010.10:g.53921718A>G	(Likely) benign	3 labs	8d22ebcfcd
2:71895992 DYSF G>A	2	71895992	71895992	G	A	DYSF	c.5543+20G>A	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71895992G>A	(Likely) benign	2 labs	8d3056942c
X:119582877 LAMP2 G>A	X	119582877	119582877	G	A	LAMP2	c.504C>T	NM_002294.3	NP_002285.1:p.(Tyr168=)	NC_000023.10:g.119582877G>A	(Likely) benign	2 labs	8d35eed1c3
14:23858277 MYH6 G>T	14	23858277	23858277	G	T	MYH6	c.3979-13C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858277G>T	(Likely) benign	2 labs	8d712ed0e3
7:75933470 HSPB1 G>A	7	75933470	75933470	G	A	HSPB1	c.598G>A	NM_001540.5	NP_001531.1:p.(Asp200Asn)	NC_000007.13:g.75933470G>A	VUS	2 labs	8d96ea1cc1
11:19213897 CSRP3 C>T	11	19213897	19213897	C	T	CSRP3	c.99G>A	NM_003476.5	NP_003467.1:p.(Thr33=)	NC_000011.9:g.19213897C>T	(Likely) benign	2 labs	8dc9b7daff
2:179431797 TTN A>T	2	179431797	179431797	A	T	TTN	c.79062T>A	NM_001267550.2	NP_001254479.2:p.(Gly26354=)	NC_000002.11:g.179431797A>T	(Likely) benign	3 labs	8defab0925
6:152462320 SYNE1 T>G	6	152462320	152462320	T	G	SYNE1	c.25246+18A>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152462320T>G	(Likely) benign	2 labs	8e03e0a63c
17:15142825 PMP22 G>GC	17	15142825	15142831	G	GC	PMP22	c.281dup	NM_000304.4	NP_000295.1:p.(Arg95GlnfsTer128)	NC_000017.10:g.15142831dup	(Likely) pathogenic	2 labs	8e76b14421
7:81603871 CACNA2D1 G>GAA	7	81603871	81603880	G	GAA	CACNA2D1	c.1956-5_1956-4dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81603879_81603880dup	(Likely) benign	2 labs	8e7fa2a515
19:15288695 NOTCH3 G>A	19	15288695	15288695	G	A	NOTCH3	c.4044C>T	NM_000435.3	NP_000426.2:p.(Gly1348=)	NC_000019.9:g.15288695G>A	(Likely) benign	2 labs	8e8a863631
2:179414889 TTN G>A	2	179414889	179414889	G	A	TTN	c.91676C>T	NM_001267550.2	NP_001254479.2:p.(Thr30559Ile)	NC_000002.11:g.179414889G>A	VUS	2 labs	8e8cad3ef3
11:32450171 WT1 G>T	11	32450171	32450171	G	T	WT1	c.662-6C>A	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32450171G>T	(Likely) benign	4 labs	8e9543b056
11:121403229 SORL1 T>C	11	121403229	121403229	T	C	SORL1	c.1653=	NM_003105.6	NP_003096.2:p.(Ala551=)	NC_000011.9:g.121403229T>C	(Likely) benign	2 labs	8e9bad5b51
17:1680008 SERPINF1 C>T	17	1680008	1680008	C	T	SERPINF1	c.969C>T	NM_002615.7	NP_002606.3:p.(Gly323=)	NC_000017.10:g.1680008C>T	(Likely) benign	2 labs	8ebaff9b35
3:38802251 SCN10A A>G	3	38802251	38802251	A	G	SCN10A	c.884-13T>C	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38802251A>G	(Likely) benign	2 labs	8eeaf93104
11:129784594 PRDM10 A>G	11	129784594	129784594	A	G	PRDM10	c.2853+5T>C	NM_020228.3	NP_064613.2:p.?	NC_000011.9:g.129784594A>G	(Likely) benign	2 labs	8ef98683b6
5:59189278 PDE4D G>A	5	59189278	59189278	G	A	PDE4D	c.172C>T	NM_001104631.2	NP_001098101.1:p.(Pro58Ser)	NC_000005.9:g.59189278G>A	VUS	2 labs	8f4e6a79a1
X:100400154 CENPI T>C	X	100400154	100400154	T	C	CENPI	c.1667T>C	NM_006733.3	NP_006724.2:p.(Phe556Ser)	NC_000023.10:g.100400154T>C	(Likely) benign	2 labs	8f786c4787
3:78766992 ROBO1 A>G	3	78766992	78766992	A	G	ROBO1	c.582T>C	NM_133631.4	NP_598334.2:p.(Ser194=)	NC_000003.11:g.78766992A>G	(Likely) benign	2 labs	8f944a72a1
14:23887505 MYH7 A>C	14	23887505	23887505	A	C	MYH7	c.4083T>G	NM_000257.4	NP_000248.2:p.(Leu1361=)	NC_000014.8:g.23887505A>C	(Likely) benign	4 labs	8fd91d2865
7:138417791 ATP6V0A4 A>G	7	138417791	138417791	A	G	ATP6V0A4	c.1739T>C	NM_020632.3	NP_065683.2:p.(Met580Thr)	NC_000007.13:g.138417791A>G	(Likely) benign	2 labs	8fde250935
1:78408235 NEXN G>A	1	78408235	78408235	G	A	NEXN	c.1749G>A	NM_144573.4	NP_653174.3:p.(Trp583Ter)	NC_000001.10:g.78408235G>A	VUS	2 labs	8ffb53c2f8
2:179654723 TTN C>T	2	179654723	179654723	C	T	TTN	c.1920G>A	NM_001267550.2	NP_001254479.2:p.(Val640=)	NC_000002.11:g.179654723C>T	(Likely) benign	2 labs	900784b39a
2:179635205 TTN C>T	2	179635205	179635205	C	T	TTN	c.8314G>A	NM_001267550.2	NP_001254479.2:p.(Val2772Met)	NC_000002.11:g.179635205C>T	(Likely) benign	2 labs	9040c427f1
X:134428004 ZNF75D C>T	X	134428004	134428004	C	T	ZNF75D	c.63G>A	NM_007131.5	NP_009062.2:p.(Glu21=)	NC_000023.10:g.134428004C>T	(Likely) benign	2 labs	904cad68d9
2:179628969 TTN G>A	2	179628969	179628969	G	A	TTN	c.10049C>T	NM_001267550.2	NP_001254479.2:p.(Pro3350Leu)	NC_000002.11:g.179628969G>A	(Likely) benign	3 labs	9080bae879
17:42953387 EFTUD2 G>A	17	42953387	42953387	G	A	EFTUD2	c.784C>T	NM_001258353.2	NP_001245282.1:p.(Arg262Trp)	NC_000017.10:g.42953387G>A	(Likely) pathogenic	2 labs	909325e0e6
8:100287294 VPS13B A>C	8	100287294	100287294	A	C	VPS13B	c.2651-15A>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100287294A>C	(Likely) benign	2 labs	90a5afd37a
X:147026489 FMR1 C>T	X	147026489	147026489	C	T	FMR1	c.1301C>T	NM_001185075.2	NP_001172004.1:p.(Ala434Val)	NC_000023.10:g.147026489C>T	(Likely) benign	3 labs	90b72a601f
6:7569506 DSP A>T	6	7569506	7569506	A	T	DSP	c.1507A>T	NM_004415.4	NP_004406.2:p.(Met503Leu)	NC_000006.11:g.7569506A>T	VUS	2 labs	91037d0d1d
17:41244734 BRCA1 T>C	17	41244734	41244734	T	C	BRCA1	c.2814A>G	NM_007294.4	NP_009225.1:p.(Pro938=)	NC_000017.10:g.41244734T>C	(Likely) benign	5 labs	90e53ba564
10:28225688 ODAD2 C>T	10	28225688	28225688	C	T	ODAD2	c.2219G>A	NM_001290020.2	NP_001276949.1:p.(Trp740Ter)	NC_000010.10:g.28225688C>T	(Likely) pathogenic	2 labs	90ee804de6
2:179629284 TTN C>T	2	179629284	179629284	C	T	TTN	c.9958G>A	NM_001267550.2	NP_001254479.2:p.(Ala3320Thr)	NC_000002.11:g.179629284C>T	VUS	3 labs	91141b24eb
1:236917391 ACTN2 C>T	1	236917391	236917391	C	T	ACTN2	c.1350+10C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236917391C>T	(Likely) benign	3 labs	912da88900
15:35085599 ACTC1 C>T	15	35085599	35085599	C	T	ACTC1	c.301G>A	NM_005159.5	NP_005150.1:p.(Glu101Lys)	NC_000015.9:g.35085599C>T	(Likely) pathogenic	3 labs	9162d14110
14:23853789 MYH6 T>G	14	23853789	23853789	T	G	MYH6	c.5427A>C	NM_002471.4	NP_002462.2:p.(Gly1809=)	NC_000014.8:g.23853789T>G	(Likely) benign	4 labs	918502b72d
17:48271380 COL1A1 C>T	17	48271380	48271380	C	T	COL1A1	c.1691G>A	NM_000088.4	NP_000079.2:p.(Arg564His)	NC_000017.10:g.48271380C>T	VUS	2 labs	916acab472
1:236891026 ACTN2 TG>T	1	236891026	236891027	TG	T	ACTN2	c.586del	NM_001103.4	NP_001094.1:p.(Asp196ThrfsTer14)	NC_000001.10:g.236891027del	(Likely) pathogenic	2 labs	91e54dda7a
17:73728294 ITGB4 C>T	17	73728294	73728294	C	T	ITGB4	c.1428C>T	NM_000213.5	NP_000204.3:p.(Cys476=)	NC_000017.10:g.73728294C>T	(Likely) benign	3 labs	91eca1c05b
1:235894381 LYST A>G	1	235894381	235894381	A	G	LYST	c.8898T>C	NM_001301365.1	NP_001288294.1:p.(Tyr2966=)	NC_000001.10:g.235894381A>G	(Likely) benign	2 labs	91fd731dcf
15:72103178 NR2E3 G>A	15	72103178	72103178	G	A	NR2E3	c.95G>A	NM_016346.4	NP_057430.1:p.(Trp32Ter)	NC_000015.9:g.72103178G>A	(Likely) pathogenic	2 labs	9209bd6e43
12:111353525 MYL2 C>A	12	111353525	111353525	C	A	MYL2	c.163G>T	NM_000432.4	NP_000423.2:p.(Ala55Ser)	NC_000012.11:g.111353525C>A	VUS	2 labs	92403b69f3
1:103496805 COL11A1 G>GAA	1	103496805	103496818	G	GAA	COL11A1	c.652-7_652-6dup	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496817_103496818dup	(Likely) benign	3 labs	924c0179dc
5:52397927 MOCS2 C>T	5	52397927	52397927	C	T	MOCS2	c.226G>A	NM_004531.5	NP_004522.1:p.(Gly76Arg)	NC_000005.9:g.52397927C>T	(Likely) pathogenic	2 labs	928bbc5158
X:153296436 MECP2 G>A	X	153296436	153296436	G	A	MECP2	c.564C>T	NM_001369391.2	NP_001356320.1:p.(Ala188=)	NC_000023.10:g.153296436G>A	(Likely) benign	2 labs	928fdc5aa3
12:112892382 PTPN11 C>T	12	112892382	112892382	C	T	PTPN11	c.540C>T	NM_002834.5	NP_002825.3:p.(Asp180=)	NC_000012.11:g.112892382C>T	(Likely) benign	4 labs	929b83f9da
6:7568145 DSP G>T	6	7568145	7568145	G	T	DSP	c.1266+6G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568145G>T	(Likely) benign	4 labs	92d6ae24f5
1:216256831 USH2A G>A	1	216256831	216256831	G	A	USH2A	c.5265C>T	NM_206933.4	NP_996816.3:p.(Phe1755=)	NC_000001.10:g.216256831G>A	(Likely) benign	2 labs	92e243095f
7:128498281 FLNC G>A	7	128498281	128498281	G	A	FLNC	c.7990+10G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498281G>A	(Likely) benign	2 labs	92eaab9566
2:179412511 TTN C>T	2	179412511	179412511	C	T	TTN	c.93842G>A	NM_001267550.2	NP_001254479.2:p.(Gly31281Asp)	NC_000002.11:g.179412511C>T	VUS	2 labs	93031042d4
3:38592983 SCN5A A>G	3	38592983	38592983	A	G	SCN5A	c.4880T>C	NM_198056.3	NP_932173.1:p.(Leu1627Pro)	NC_000003.11:g.38592983A>G	VUS	2 labs	9349c67020
2:220286142 DES G>A	2	220286142	220286142	G	A	DES	c.1104G>A	NM_001927.4	NP_001918.3:p.(Ala368=)	NC_000002.11:g.220286142G>A	(Likely) benign	5 labs	936e1c5271
4:114254376 ANK2 T>G	4	114254376	114254376	T	G	ANK2	c.3379+12T>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114254376T>G	(Likely) benign	2 labs	93828215c8
17:41258457 BRCA1 T>C	17	41258457	41258457	T	C	BRCA1	c.212+16A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258457T>C	(Likely) benign	6 labs	9386c74ac2
11:47364677 MYBPC3 C>T	11	47364677	47364677	C	T	MYBPC3	c.1246G>A	NM_000256.3	NP_000247.2:p.(Gly416Ser)	NC_000011.9:g.47364677C>T	VUS	2 labs	93948ba4b0
1:236925883 ACTN2 G>A	1	236925883	236925883	G	A	ACTN2	c.2649G>A	NM_001103.4	NP_001094.1:p.(Ala883=)	NC_000001.10:g.236925883G>A	(Likely) benign	6 labs	93a9296d0c
1:10403302 KIF1B G>A	1	10403302	10403302	G	A	KIF1B	c.3507G>A	NM_015074.3	NP_055889.2:p.(Pro1169=)	NC_000001.10:g.10403302G>A	(Likely) benign	2 labs	93b8f75d8a
2:179441773 TTN A>C	2	179441773	179441773	A	C	TTN	c.69289T>G	NM_001267550.2	NP_001254479.2:p.(Cys23097Gly)	NC_000002.11:g.179441773A>C	VUS	2 labs	93d23b7b56
12:48372077 COL2A1 C>T	12	48372077	48372077	C	T	COL2A1	c.3000G>A	NM_001844.5	NP_001835.3:p.(Pro1000=)	NC_000012.11:g.48372077C>T	(Likely) benign	3 labs	9413faab3f
5:37169169 CPLANE1 T>C	5	37169169	37169169	T	C	CPLANE1	c.6957A>G	NM_023073.4	NP_075561.3:p.(Gln2319=)	NC_000005.9:g.37169169T>C	(Likely) benign	2 labs	94547e0792
9:135781239 TSC1 A>G	9	135781239	135781239	A	G	TSC1	c.1726T>C	NM_000368.5	NP_000359.1:p.(Leu576=)	NC_000009.11:g.135781239A>G	(Likely) benign	2 labs	9472c4216a
11:108172459 ATM G>T	11	108172459	108172459	G	T	ATM	c.5262G>T	NM_001351834.2	NP_001338763.1:p.(Lys1754Asn)	NC_000011.9:g.108172459G>T	VUS	3 labs	9484559a4f
12:110238487 TRPV4 A>G	12	110238487	110238487	A	G	TRPV4	c.789T>C	NM_021625.5	NP_067638.3:p.(Asp263=)	NC_000012.11:g.110238487A>G	(Likely) benign	2 labs	9475602bbe
15:85400146 ALPK3 A>G	15	85400146	85400146	A	G	ALPK3	c.2177A>G	NM_020778.5	NP_065829.4:p.(Gln726Arg)	NC_000015.9:g.85400146A>G	(Likely) benign	3 labs	947fbc0beb
19:10291181 DNMT1 T>C	19	10291181	10291181	T	C	DNMT1	c.290A>G	NM_001130823.3	NP_001124295.1:p.(His97Arg)	NC_000019.9:g.10291181T>C	(Likely) benign	3 labs	949737a733
3:38739574 SCN10A T>C	3	38739574	38739574	T	C	SCN10A	c.5137A>G	NM_006514.4	NP_006505.4:p.(Met1713Val)	NC_000003.11:g.38739574T>C	(Likely) benign	2 labs	94aa491522
10:55780122 PCDH15 C>T	10	55780122	55780122	C	T	PCDH15	c.2596G>A	NM_001142771.2	NP_001136243.1:p.(Val866Met)	NC_000010.10:g.55780122C>T	VUS	2 labs	94cca6c1fb
1:45797878 MUTYH C>T	1	45797878	45797878	C	T	MUTYH	c.893G>A	NM_001128425.2	NP_001121897.1:p.(Ser298Asn)	NC_000001.10:g.45797878C>T	VUS	2 labs	94e1d61f8b
19:50905911 POLD1 G>A	19	50905911	50905911	G	A	POLD1	c.883G>A	NM_001256849.1	NP_001243778.1:p.(Val295Met)	NC_000019.9:g.50905911G>A	(Likely) benign	5 labs	94f8001efc
16:1250271 CACNA1H C>T	16	1250271	1250271	C	T	CACNA1H	c.819C>T	NM_021098.3	NP_066921.2:p.(Thr273=)	NC_000016.9:g.1250271C>T	(Likely) benign	3 labs	95018144f9
1:46662456 POMGNT1 C>T	1	46662456	46662456	C	T	POMGNT1	c.301G>A	NM_001243766.2	NP_001230695.2:p.(Val101Ile)	NC_000001.10:g.46662456C>T	(Likely) benign	4 labs	952fbe48b3
2:211541721 CPS1 A>G	2	211541721	211541721	A	G	CPS1	c.4275-10A>G	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211541721A>G	(Likely) benign	3 labs	95471543b5
16:28488944 CLN3 G>T	16	28488944	28488944	G	T	CLN3	c.1210C>A	NM_001042432.2	NP_001035897.1:p.(His404Asn)	NC_000016.9:g.28488944G>T	(Likely) benign	2 labs	955e5710a2
5:13769188 DNAH5 G>A	5	13769188	13769188	G	A	DNAH5	c.9778C>T	NM_001369.3	NP_001360.1:p.(Gln3260Ter)	NC_000005.9:g.13769188G>A	(Likely) pathogenic	2 labs	9562975945
8:19811679 LPL G>A	8	19811679	19811679	G	A	LPL	c.590G>A	NM_000237.3	NP_000228.1:p.(Arg197His)	NC_000008.10:g.19811679G>A	(Likely) pathogenic	2 labs	95664e6455
18:33793365 MOCOS C>T	18	33793365	33793365	C	T	MOCOS	c.1255C>T	NM_017947.4	NP_060417.4:p.(Arg419Ter)	NC_000018.9:g.33793365C>T	(Likely) pathogenic	3 labs	9578b988b3
7:16298075 CRPPA C>T	7	16298075	16298075	C	T	CRPPA	c.1059G>A	NM_001101426.4	NP_001094896.1:p.(Lys353=)	NC_000007.13:g.16298075C>T	(Likely) benign	3 labs	957aa20d85
6:112441471 LAMA4 C>T	6	112441471	112441471	C	T	LAMA4	c.4644+15G>A	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112441471C>T	(Likely) benign	2 labs	9584dd6454
13:111155779 COL4A2 G>A	13	111155779	111155779	G	A	COL4A2	c.4089G>A	NM_001846.4	NP_001837.2:p.(Ala1363=)	NC_000013.10:g.111155779G>A	(Likely) benign	2 labs	958cbd30b4
12:1005803 WNK1 T>C	12	1005803	1005803	T	C	WNK1	c.6930T>C	NM_001184985.2	NP_001171914.1:p.(Leu2310=)	NC_000012.11:g.1005803T>C	(Likely) benign	3 labs	95919bf8ee
3:193376706 OPA1 C>T	3	193376706	193376706	C	T	OPA1	c.2362C>T	NM_130837.3	NP_570850.2:p.(Arg788Ter)	NC_000003.11:g.193376706C>T	(Likely) pathogenic	2 labs	95b6977813
10:18789860 CACNB2 A>G	10	18789860	18789860	A	G	CACNB2	c.411A>G	NM_000724.4	NP_000715.2:p.(Gln137=)	NC_000010.10:g.18789860A>G	(Likely) benign	2 labs	95c719f5b1
11:31815075 PAX6 A>G	11	31815075	31815075	A	G	PAX6	c.535T>C	NM_001310160.2	NP_001297089.1:p.(Leu179=)	NC_000011.9:g.31815075A>G	(Likely) benign	2 labs	95cf41b317
12:33030875 PKP2 G>A	12	33030875	33030875	G	A	PKP2	c.939C>T	NM_004572.4	NP_004563.2:p.(Ser313=)	NC_000012.11:g.33030875G>A	(Likely) benign	2 labs	95d0a345ab
6:152629772 SYNE1 GAA>G	6	152629772	152629786	GAA	G	SYNE1	c.17203-7_17203-6del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629785_152629786del	(Likely) benign	4 labs	95d5d00818
18:34238055 FHOD3 A>G	18	34238055	34238055	A	G	FHOD3	c.1739A>G	NM_001281740.3	NP_001268669.1:p.(Asn580Ser)	NC_000018.9:g.34238055A>G	(Likely) benign	2 labs	95f35ecddf
4:126241253 FAT4 G>C	4	126241253	126241253	G	C	FAT4	c.3687G>C	NM_001291303.3	NP_001278232.1:p.(Val1229=)	NC_000004.11:g.126241253G>C	(Likely) benign	2 labs	960d00d950
6:7575003 DSP T>C	6	7575003	7575003	T	C	DSP	c.2411T>C	NM_004415.4	NP_004406.2:p.(Val804Ala)	NC_000006.11:g.7575003T>C	VUS	2 labs	9621fe7f51
19:50730169 MYH14 A>G	19	50730169	50730169	A	G	MYH14	c.820A>G	NM_001145809.2	NP_001139281.1:p.(Ile274Val)	NC_000019.9:g.50730169A>G	VUS	2 labs	9626b9e649
16:85689333 GSE1 A>T	16	85689333	85689333	A	T	GSE1	c.799A>T	NM_014615.5	NP_055430.1:p.(Met267Leu)	NC_000016.9:g.85689333A>T	VUS	2 labs	96289d53ab
15:44876328 SPG11 G>C	15	44876328	44876328	G	C	SPG11	c.5550C>G	NM_025137.4	NP_079413.3:p.(Asn1850Lys)	NC_000015.9:g.44876328G>C	VUS	4 labs	9648758c5e
13:32914624 BRCA2 C>T	13	32914624	32914624	C	T	BRCA2	c.6132C>T	NM_000059.4	NP_000050.3:p.(Gly2044=)	NC_000013.10:g.32914624C>T	(Likely) benign	4 labs	964dacec73
10:97983635 BLNK C>A	10	97983635	97983635	C	A	BLNK	c.472G>T	NM_013314.4	NP_037446.1:p.(Ala158Ser)	NC_000010.10:g.97983635C>A	(Likely) benign	3 labs	964f6d25f8
8:43046638 HGSNAT C>T	8	43046638	43046638	C	T	HGSNAT	c.1150C>T	NM_152419.3	NP_689632.2:p.(Arg384Ter)	NC_000008.10:g.43046638C>T	(Likely) pathogenic	3 labs	9652300c56
5:180057056 FLT4 C>T	5	180057056	180057056	C	T	FLT4	c.563G>A	NM_182925.5	NP_891555.2:p.(Arg188Gln)	NC_000005.9:g.180057056C>T	(Likely) benign	2 labs	9679cc7fc2
1:196762455 CFHR3 A>G	1	196762455	196762455	A	G	CFHR3	c.805A>G	NM_021023.6	NP_066303.2:p.(Ile269Val)	NC_000001.10:g.196762455A>G	(Likely) benign	3 labs	9680038b26
12:968489 WNK1 T>C	12	968489	968489	T	C	WNK1	c.1479T>C	NM_001184985.2	NP_001171914.1:p.(Asp493=)	NC_000012.11:g.968489T>C	(Likely) benign	2 labs	9687c78201
6:18122526 NHLRC1 A>G	6	18122526	18122526	A	G	NHLRC1	c.312T>C	NM_198586.3	NP_940988.2:p.(His104=)	NC_000006.11:g.18122526A>G	(Likely) benign	2 labs	96af2b097b
10:102789821 PDZD7 G>A	10	102789821	102789821	G	A	PDZD7	c.156C>T	NM_001195263.2	NP_001182192.1:p.(Asn52=)	NC_000010.10:g.102789821G>A	(Likely) benign	2 labs	96cab09810
13:32929222 BRCA2 A>C	13	32929222	32929222	A	C	BRCA2	c.7232A>C	NM_000059.4	NP_000050.3:p.(Lys2411Thr)	NC_000013.10:g.32929222A>C	(Likely) benign	5 labs	96d4802f3b
11:119535677 NECTIN1 C>CCCT	11	119535677	119535702	C	CCCT	NECTIN1	c.1331_1333dup	NM_002855.5	NP_002846.3:p.(Glu444dup)	NC_000011.9:g.119535700_119535702dup	(Likely) benign	3 labs	96e8683121
2:179428778 TTN G>C	2	179428778	179428778	G	C	TTN	c.82081C>G	NM_001267550.2	NP_001254479.2:p.(Pro27361Ala)	NC_000002.11:g.179428778G>C	(Likely) benign	5 labs	96df810da1
X:38145905 RPGR TC>T	X	38145905	38145909	TC	T	RPGR	c.2346del	NM_001034853.2	NP_001030025.1:p.(Lys783ArgfsTer32)	NC_000023.10:g.38145909del	(Likely) pathogenic	2 labs	96e22e74e9
2:179432514 TTN A>G	2	179432514	179432514	A	G	TTN	c.78345T>C	NM_001267550.2	NP_001254479.2:p.(Asp26115=)	NC_000002.11:g.179432514A>G	(Likely) benign	2 labs	96e966d125
6:121768751 GJA1 C>T	6	121768751	121768751	C	T	GJA1	c.758C>T	NM_000165.5	NP_000156.1:p.(Ala253Val)	NC_000006.11:g.121768751C>T	(Likely) benign	2 labs	970de2c870
8:100861113 VPS13B A>T	8	100861113	100861113	A	T	VPS13B	c.10127A>T	NM_017890.5	NP_060360.3:p.(Asn3376Ile)	NC_000008.10:g.100861113A>T	(Likely) benign	3 labs	9710a8e08d
3:53766026 CACNA1D T>C	3	53766026	53766026	T	C	CACNA1D	c.2467-17T>C	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53766026T>C	(Likely) benign	2 labs	972e784153
3:58092528 FLNB C>T	3	58092528	58092528	C	T	FLNB	c.1869C>T	NM_001164317.2	NP_001157789.1:p.(Asp623=)	NC_000003.11:g.58092528C>T	(Likely) benign	2 labs	9717334eaf
1:94484082 ABCA4 T>C	1	94484082	94484082	T	C	ABCA4	c.5196+1056A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94484082T>C	(Likely) pathogenic	2 labs	976c26706e
15:72040862 THSD4 C>A	15	72040862	72040862	C	A	THSD4	c.2344C>A	NM_024817.3	NP_079093.2:p.(Pro782Thr)	NC_000015.9:g.72040862C>A	VUS	2 labs	97a8e9f3e8
10:135176428 ECHS1 T>C	10	135176428	135176428	T	C	ECHS1	c.817A>G	NM_004092.4	NP_004083.3:p.(Lys273Glu)	NC_000010.10:g.135176428T>C	(Likely) pathogenic	2 labs	97b43a2a31
X:132888207 GPC3 T>TA	X	132888207	132888223	T	TA	GPC3	c.338-5dup	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132888223dup	(Likely) benign	4 labs	97bf6f495b
9:79955305 VPS13A A>AT	9	79955305	79955314	A	AT	VPS13A	c.6880-6dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79955314dup	(Likely) benign	2 labs	97c8fe93e3
12:2706415 CACNA1C T>C	12	2706415	2706415	T	C	CACNA1C	c.2813T>C	NM_001167623.2	NP_001161095.1:p.(Ile938Thr)	NC_000012.11:g.2706415T>C	VUS	2 labs	97c6e39f94
19:46281876 DMPK C>T	19	46281876	46281876	C	T	DMPK	c.486G>A	NM_001081563.2	NP_001075032.1:p.(Val162=)	NC_000019.9:g.46281876C>T	(Likely) benign	2 labs	97c867773a
2:179417938 TTN G>A	2	179417938	179417938	G	A	TTN	c.89689C>T	NM_001267550.2	NP_001254479.2:p.(Leu29897Phe)	NC_000002.11:g.179417938G>A	VUS	2 labs	97ccbfaa45
16:88498357 ZNF469 G>A	16	88498357	88498357	G	A	ZNF469	c.4479G>A	NM_001367624.2	NP_001354553.1:p.(Pro1493=)	NC_000016.9:g.88498357G>A	(Likely) benign	2 labs	97dcf5867b
3:38962758 SCN11A G>T	3	38962758	38962758	G	T	SCN11A	c.713-12C>A	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38962758G>T	(Likely) benign	2 labs	97dfc8bbe5
17:59761071 BRIP1 A>G	17	59761071	59761071	A	G	BRIP1	c.3336T>C	NM_032043.3	NP_114432.2:p.(Asp1112=)	NC_000017.10:g.59761071A>G	(Likely) benign	3 labs	97e4716948
10:27333121 ANKRD26 T>TA	10	27333121	27333133	T	TA	ANKRD26	c.1986-3dup	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27333133dup	(Likely) benign	3 labs	97e9e99ae6
1:12024286 PLOD1 G>A	1	12024286	12024286	G	A	PLOD1	c.1257G>A	NM_000302.4	NP_000293.2:p.(Trp419Ter)	NC_000001.10:g.12024286G>A	(Likely) pathogenic	2 labs	97f4a1614d
17:6329939 AIPL1 G>A	17	6329939	6329939	G	A	AIPL1	c.780C>T	NM_014336.5	NP_055151.3:p.(His260=)	NC_000017.10:g.6329939G>A	(Likely) benign	2 labs	9804a67512
14:64066395 WDR89 C>T	14	64066395	64066395	C	T	WDR89	c.266G>A	NM_001258272.2	NP_001245201.1:p.(Cys89Tyr)	NC_000014.8:g.64066395C>T	(Likely) benign	2 labs	9820c36ae4
X:53634593 HUWE1 T>A	X	53634593	53634593	T	A	HUWE1	c.2387A>T	NM_031407.7	NP_113584.3:p.(Gln796Leu)	NC_000023.10:g.53634593T>A	VUS	2 labs	985d44acb6
12:106824188 POLR3B T>A	12	106824188	106824188	T	A	POLR3B	c.1401T>A	NM_018082.6	NP_060552.4:p.(Gly467=)	NC_000012.11:g.106824188T>A	(Likely) benign	3 labs	988e0e6b02
10:112572368 RBM20 C>T	10	112572368	112572368	C	T	RBM20	c.2213C>T	NM_001134363.3	NP_001127835.2:p.(Pro738Leu)	NC_000010.10:g.112572368C>T	(Likely) benign	3 labs	98db0fc4b7
1:237787071 RYR2 A>G	1	237787071	237787071	A	G	RYR2	c.5923A>G	NM_001035.3	NP_001026.2:p.(Met1975Val)	NC_000001.10:g.237787071A>G	VUS	2 labs	98e799b743
1:156838334 NTRK1 G>A	1	156838334	156838334	G	A	NTRK1	c.612G>A	NM_002529.4	NP_002520.2:p.(Ser204=)	NC_000001.10:g.156838334G>A	(Likely) benign	2 labs	98ff485c8e
16:68721525 CDH3 G>A	16	68721525	68721525	G	A	CDH3	c.1681G>A	NM_001793.6	NP_001784.2:p.(Val561Met)	NC_000016.9:g.68721525G>A	(Likely) benign	2 labs	9907b51e42
8:145737131 RECQL4 C>G	8	145737131	145737131	C	G	RECQL4	c.3435G>C	NM_004260.4	NP_004251.4:p.(Gln1145His)	NC_000008.10:g.145737131C>G	(Likely) benign	4 labs	9914a24fca
2:73679572 ALMS1 C>A	2	73679572	73679572	C	A	ALMS1	c.5921C>A	NM_015120.4	NP_055935.4:p.(Pro1974Gln)	NC_000002.11:g.73679572C>A	(Likely) benign	2 labs	9925c3cd07
20:5283256 PROKR2 C>G	20	5283256	5283256	C	G	PROKR2	c.585G>C	NM_144773.4	NP_658986.1:p.(Thr195=)	NC_000020.10:g.5283256C>G	(Likely) benign	3 labs	99338203cc
20:57485795 GNAS G>A	20	57485795	57485795	G	A	GNAS	c.3025G>A	NM_080425.4	NP_536350.2:p.(Ala1009Thr)	NC_000020.10:g.57485795G>A	(Likely) pathogenic	2 labs	9941d0465f
9:107550194 ABCA1 T>C	9	107550194	107550194	T	C	ABCA1	c.6204+7A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550194T>C	(Likely) benign	2 labs	9967dc648e
15:72638982 HEXA G>A	15	72638982	72638982	G	A	HEXA	c.1249C>T	NM_001318825.2	NP_001305754.1:p.(Leu417=)	NC_000015.9:g.72638982G>A	(Likely) benign	2 labs	99c2e4ceac
2:73613031 ALMS1 TGGA>T	2	73613031	73613070	TGGA	T	ALMS1	c.72_77del	NM_015120.4	NP_055935.4:p.(Glu28_Glu29del)	NC_000002.11:g.73613068_73613070del	(Likely) benign	4 labs	99cd2bdcb9
11:45957292 PHF21A TAAA>T	11	45957292	45957315	TAAA	T	PHF21A	c.1682-5_1682-3del	NM_001101802.3	NP_001095272.1:p.?	NC_000011.9:g.45957313_45957315del	(Likely) benign	2 labs	99e1d941a4
12:6711144 CHD4 ATCC>A	12	6711144	6711166	ATCC	A	CHD4	c.417_419del	NM_001273.5	NP_001264.2:p.(Glu139del)	NC_000012.11:g.6711164_6711166del	(Likely) benign	2 labs	99f2c9091e
22:50898578 SBF1 C>T	22	50898578	50898578	C	T	SBF1	c.3294G>A	NM_002972.4	NP_002963.2:p.(Glu1098=)	NC_000022.10:g.50898578C>T	(Likely) benign	2 labs	99f982458f
7:91660820 AKAP9 A>T	7	91660820	91660820	A	T	AKAP9	c.4246-6A>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91660820A>T	(Likely) benign	2 labs	9a0a38ec88
X:32613963 DMD C>G	X	32613963	32613963	C	G	DMD	c.1144G>C	NM_004010.3	NP_004001.1:p.(Val382Leu)	NC_000023.10:g.32613963C>G	(Likely) benign	4 labs	9a388932fc
15:66995657 SMAD6 G>A	15	66995657	66995657	G	A	SMAD6	c.61G>A	NM_005585.5	NP_005576.3:p.(Asp21Asn)	NC_000015.9:g.66995657G>A	(Likely) benign	3 labs	9a3cc3b84a
11:44135818 EXT2 C>T	11	44135818	44135818	C	T	EXT2	c.809C>T	NM_000401.3	NP_000392.3:p.(Ser270Leu)	NC_000011.9:g.44135818C>T	(Likely) benign	4 labs	9a5811b9d6
20:10622246 JAG1 G>A	20	10622246	10622246	G	A	JAG1	c.2778C>T	NM_000214.3	NP_000205.1:p.(Phe926=)	NC_000020.10:g.10622246G>A	(Likely) benign	3 labs	9a5b357a68
3:37035090 MLH1 C>T	3	37035090	37035090	C	T	MLH1	c.52C>T	NM_000249.4	NP_000240.1:p.(Arg18Cys)	NC_000003.11:g.37035090C>T	VUS	2 labs	9a6ad4de1c
22:51065487 ARSA C>G	22	51065487	51065487	C	G	ARSA	c.466-7G>C	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51065487C>G	(Likely) benign	3 labs	9a737a0690
1:215807798 USH2A T>C	1	215807798	215807798	T	C	USH2A	c.15297+3A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215807798T>C	(Likely) benign	2 labs	9a7b21e0f3
X:48054735 SSX5 C>A	X	48054735	48054735	C	A	SSX5	c.60G>T	NM_021015.4	NP_066295.3:p.(Lys20Asn)	NC_000023.10:g.48054735C>A	(Likely) benign	2 labs	9ad485b2c9
3:37067120 MLH1 T>TTTTTTA	3	37067120	37067121	T	TTTTTTA	MLH1	c.1039-8_1039-7insTTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTTA	(Likely) benign	2 labs	9b0c8b2a43
9:139391200 NOTCH1 C>T	9	139391200	139391200	C	T	NOTCH1	c.6991G>A	NM_017617.5	NP_060087.3:p.(Ala2331Thr)	NC_000009.11:g.139391200C>T	(Likely) benign	3 labs	9b0164ed7e
4:122754557 BBS7 T>A	4	122754557	122754557	T	A	BBS7	c.1512-7A>T	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122754557T>A	(Likely) benign	3 labs	9b1cc5732f
17:1577951 PRPF8 A>G	17	1577951	1577951	A	G	PRPF8	c.3084T>C	NM_006445.4	NP_006436.3:p.(Tyr1028=)	NC_000017.10:g.1577951A>G	(Likely) benign	2 labs	9b38da9802
X:154508542 CLIC2 G>C	X	154508542	154508542	G	C	CLIC2	c.478C>G	NM_001289.6	NP_001280.3:p.(Pro160Ala)	NC_000023.10:g.154508542G>C	(Likely) benign	2 labs	9b399a696f
16:49671956 ZNF423 G>A	16	49671956	49671956	G	A	ZNF423	c.927C>T	NM_001271620.2	NP_001258549.1:p.(Ser309=)	NC_000016.9:g.49671956G>A	(Likely) benign	2 labs	9b4deccd66
2:179613538 TTN A>C	2	179613538	179613538	A	C	TTN	c.13589T>G	NM_133379.5	NP_596870.2:p.(Ile4530Arg)	NC_000002.11:g.179613538A>C	VUS	2 labs	9bca39d99c
16:88496719 ZNF469 G>A	16	88496719	88496719	G	A	ZNF469	c.2841G>A	NM_001367624.2	NP_001354553.1:p.(Arg947=)	NC_000016.9:g.88496719G>A	(Likely) benign	2 labs	9bcded562e
5:127627209 FBN2 G>T	5	127627209	127627209	G	T	FBN2	c.6292+12C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127627209G>T	(Likely) benign	2 labs	9be592575d
1:201331147 TNNT2 C>T	1	201331147	201331147	C	T	TNNT2	c.583G>A	NM_001276347.2	NP_001263276.1:p.(Glu195Lys)	NC_000001.10:g.201331147C>T	VUS	2 labs	9c176a6566
17:42426631 GRN C>T	17	42426631	42426631	C	T	GRN	c.99C>T	NM_002087.4	NP_002078.1:p.(Asp33=)	NC_000017.10:g.42426631C>T	(Likely) benign	3 labs	9c2811483f
12:12037444 ETV6 C>A	12	12037444	12037444	C	A	ETV6	c.1075C>A	NM_001987.5	NP_001978.1:p.(Arg359=)	NC_000012.11:g.12037444C>A	(Likely) benign	2 labs	9c5ab897e2
7:117171122 CFTR T>C	7	117171122	117171122	T	C	CFTR	c.443T>C	NM_000492.4	NP_000483.3:p.(Ile148Thr)	NC_000007.13:g.117171122T>C	(Likely) benign	3 labs	9c83c9b3b4
5:127622440 FBN2 C>A	5	127622440	127622440	C	A	FBN2	c.6982G>T	NM_001999.4	NP_001990.2:p.(Ala2328Ser)	NC_000005.9:g.127622440C>A	(Likely) benign	3 labs	9c846cc59a
4:47938971 CNGA1 G>A	4	47938971	47938971	G	A	CNGA1	c.1528C>T	NM_001142564.2	NP_001136036.2:p.(Arg510Ter)	NC_000004.11:g.47938971G>A	(Likely) pathogenic	2 labs	9c95822a8f
13:100962142 PCCA T>G	13	100962142	100962142	T	G	PCCA	c.1409T>G	NM_000282.4	NP_000273.2:p.(Leu470Arg)	NC_000013.10:g.100962142T>G	(Likely) pathogenic	2 labs	9c96830853
4:114286289 ANK2 T>C	4	114286289	114286289	T	C	ANK2	c.11124T>C	NM_001386174.1	NP_001373103.1:p.(Ser3708=)	NC_000004.11:g.114286289T>C	(Likely) benign	2 labs	9cdd857c7e
19:15278057 NOTCH3 A>G	19	15278057	15278057	A	G	NOTCH3	c.5362+3T>C	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15278057A>G	(Likely) benign	3 labs	9cef92eb4d
17:59763509 BRIP1 G>A	17	59763509	59763509	G	A	BRIP1	c.2593C>T	NM_032043.3	NP_114432.2:p.(Arg865Trp)	NC_000017.10:g.59763509G>A	VUS	3 labs	9cf9c57664
14:100835498 WARS1 G>C	14	100835498	100835498	G	C	WARS1	c.25C>G	NM_004184.4	NP_004175.2:p.(Leu9Val)	NC_000014.8:g.100835498G>C	(Likely) benign	2 labs	9d099c4a41
19:1226555 STK11 C>T	19	1226555	1226555	C	T	STK11	c.1211C>T	NM_000455.5	NP_000446.1:p.(Ser404Phe)	NC_000019.9:g.1226555C>T	(Likely) benign	2 labs	9d1f046b02
3:87299075 CHMP2B A>C	3	87299075	87299075	A	C	CHMP2B	c.372A>C	NM_014043.4	NP_054762.2:p.(Thr124=)	NC_000003.11:g.87299075A>C	(Likely) benign	2 labs	9d92e82fe3
19:39008026 RYR1 A>G	19	39008026	39008026	A	G	RYR1	c.9713A>G	NM_000540.3	NP_000531.2:p.(Glu3238Gly)	NC_000019.9:g.39008026A>G	VUS	2 labs	9dc7691715
7:33397560 BBS9 C>T	7	33397560	33397560	C	T	BBS9	c.1646C>T	NM_198428.3	NP_940820.1:p.(Thr549Ile)	NC_000007.13:g.33397560C>T	(Likely) benign	2 labs	9dcd3653be
3:38651286 SCN5A G>A	3	38651286	38651286	G	A	SCN5A	c.873C>T	NM_198056.3	NP_932173.1:p.(Asn291=)	NC_000003.11:g.38651286G>A	(Likely) benign	2 labs	9dfc3d5ad6
8:1876707 ARHGEF10 G>A	8	1876707	1876707	G	A	ARHGEF10	c.2884G>A	NM_001308153.2	NP_001295082.1:p.(Val962Ile)	NC_000008.10:g.1876707G>A	(Likely) benign	2 labs	9e1f659205
2:47637301 MSH2 T>G	2	47637301	47637301	T	G	MSH2	c.435T>G	NM_000251.3	NP_000242.1:p.(Ile145Met)	NC_000002.11:g.47637301T>G	(Likely) benign	5 labs	9e2636c9d6
7:128488030 FLNC T>C	7	128488030	128488030	T	C	FLNC	c.4488T>C	NM_001458.5	NP_001449.3:p.(Asn1496=)	NC_000007.13:g.128488030T>C	(Likely) benign	2 labs	9e59b11a97
3:53531375 CACNA1D C>T	3	53531375	53531375	C	T	CACNA1D	c.264C>T	NM_000720.4	NP_000711.1:p.(Tyr88=)	NC_000003.11:g.53531375C>T	(Likely) benign	2 labs	9eb4a5c4f6
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACAC	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTG	(Likely) benign	2 labs	9edb27368c
19:50140092 RRAS G>A	19	50140092	50140092	G	A	RRAS	c.333C>T	NM_006270.5	NP_006261.1:p.(Asn111=)	NC_000019.9:g.50140092G>A	(Likely) benign	2 labs	9ec9c6c0a6
16:49559421 ZNF423 G>A	16	49559421	49559421	G	A	ZNF423	c.3398-16C>T	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49559421G>A	(Likely) benign	2 labs	9edf8d5df2
7:91842554 KRIT1 T>C	7	91842554	91842554	T	C	KRIT1	c.1980A>G	NM_194455.1	NP_919437.1:p.(Val660=)	NC_000007.13:g.91842554T>C	(Likely) benign	2 labs	9ee8438021
11:47355156 MYBPC3 G>T	11	47355156	47355156	G	T	MYBPC3	c.3142C>A	NM_000256.3	NP_000247.2:p.(Arg1048Ser)	NC_000011.9:g.47355156G>T	VUS	2 labs	9eeb102f6e
19:39034444 RYR1 C>T	19	39034444	39034444	C	T	RYR1	c.11941C>T	NM_000540.3	NP_000531.2:p.(His3981Tyr)	NC_000019.9:g.39034444C>T	(Likely) benign	3 labs	9efe11384b
16:2129044 TSC2 C>T	16	2129044	2129044	C	T	TSC2	c.2978C>T	NM_000548.5	NP_000539.2:p.(Thr993Met)	NC_000016.9:g.2129044C>T	(Likely) benign	4 labs	9f0e3de736
10:61926589 ANK3 A>G	10	61926589	61926589	A	G	ANK3	c.2544T>C	NM_020987.5	NP_066267.2:p.(Asp848=)	NC_000010.10:g.61926589A>G	(Likely) benign	2 labs	9f2af8afb4
X:38145033 RPGR GCCTGTCT>G	X	38145033	38145044	GCCTGTCT	G	RPGR	c.3212_3218del	NM_001034853.2	NP_001030025.1:p.(Glu1071AlafsTer16)	NC_000023.10:g.38145038_38145044del	(Likely) pathogenic	2 labs	9f7ec7224c
21:44476941 CBS G>A	21	44476941	44476941	G	A	CBS	c.1524C>T	NM_000071.3	NP_000062.1:p.(Phe508=)	NC_000021.8:g.44476941G>A	(Likely) benign	2 labs	9f853d98fd
14:102446288 DYNC1H1 C>T	14	102446288	102446288	C	T	DYNC1H1	c.751C>T	NM_001376.5	NP_001367.2:p.(Arg251Cys)	NC_000014.8:g.102446288C>T	(Likely) pathogenic	2 labs	9fbcf71e72
12:13768147 GRIN2B G>A	12	13768147	13768147	G	A	GRIN2B	c.1555C>T	NM_000834.5	NP_000825.2:p.(Arg519Ter)	NC_000012.11:g.13768147G>A	(Likely) pathogenic	2 labs	9fd0a1b777
2:179466208 TTN C>T	2	179466208	179466208	C	T	TTN	c.55516G>A	NM_001267550.2	NP_001254479.2:p.(Asp18506Asn)	NC_000002.11:g.179466208C>T	VUS	2 labs	9fe35dea08
19:38249238 ZNF573 TA>T	19	38249238	38249254	TA	T	ZNF573	c.1-3del	NM_152360.4	NP_689573.3:p.?	NC_000019.9:g.38249254del	(Likely) benign	2 labs	a00c940704
2:44104925 ABCG8 T>C	2	44104925	44104925	T	C	ABCG8	c.1895T>C	NM_022437.3	NP_071882.1:p.(Val632Ala)	NC_000002.11:g.44104925T>C	(Likely) benign	3 labs	a030135ce6
X:49084541 CACNA1F C>T	X	49084541	49084541	C	T	CACNA1F	c.1075G>A	NM_005183.4	NP_005174.2:p.(Gly359Arg)	NC_000023.10:g.49084541C>T	(Likely) pathogenic	2 labs	a045680a2e
3:130447530 PIK3R4 TA>T	3	130447530	130447546	TA	T	PIK3R4	c.1586-3del	NM_014602.3	NP_055417.1:p.?	NC_000003.11:g.130447546del	(Likely) benign	2 labs	a079def1f8
4:128865155 MFSD8 A>G	4	128865155	128865155	A	G	MFSD8	c.199-8T>C	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128865155A>G	(Likely) benign	3 labs	a07ae63f25
5:178413122 GRM6 C>T	5	178413122	178413122	C	T	GRM6	c.2124+9G>A	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178413122C>T	(Likely) benign	2 labs	a0857e09ea
14:23866242 MYH6 C>T	14	23866242	23866242	C	T	MYH6	c.2098G>A	NM_002471.4	NP_002462.2:p.(Val700Met)	NC_000014.8:g.23866242C>T	VUS	2 labs	a091c24574
10:69366602 CTNNA3 T>C	10	69366602	69366602	T	C	CTNNA3	c.292+13A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69366602T>C	(Likely) benign	3 labs	a0b38925ef
9:139401899 NOTCH1 C>T	9	139401899	139401899	C	T	NOTCH1	c.3511-10G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139401899C>T	(Likely) benign	4 labs	a0fe2c5f85
4:6290761 WFS1 C>T	4	6290761	6290761	C	T	WFS1	c.363C>T	NM_006005.3	NP_005996.2:p.(Leu121=)	NC_000004.11:g.6290761C>T	(Likely) benign	3 labs	a111285467
6:64776221 EYS C>T	6	64776221	64776221	C	T	EYS	c.6725+10G>A	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.64776221C>T	(Likely) benign	2 labs	a14470b957
2:121743883 GLI2 G>A	2	121743883	121743883	G	A	GLI2	c.1986G>A	NM_005270.5	NP_005261.2:p.(Ser662=)	NC_000002.11:g.121743883G>A	(Likely) benign	2 labs	a14ac244da
17:41244370 BRCA1 C>T	17	41244370	41244370	C	T	BRCA1	c.3178G>A	NM_007294.4	NP_009225.1:p.(Glu1060Lys)	NC_000017.10:g.41244370C>T	(Likely) benign	2 labs	a15f591f4c
4:995868 IDUA C>T	4	995868	995868	C	T	IDUA	c.891C>T	NM_000203.5	NP_000194.2:p.(Asn297=)	NC_000004.11:g.995868C>T	(Likely) benign	3 labs	a166ef0d10
17:41276223 BRCA1 T>G	17	41276223	41276223	T	G	BRCA1	c.-19-91A>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276223T>G	(Likely) benign	2 labs	a18de29303
7:33545175 BBS9 C>T	7	33545175	33545175	C	T	BBS9	c.2216C>T	NM_198428.3	NP_940820.1:p.(Ala739Val)	NC_000007.13:g.33545175C>T	(Likely) benign	3 labs	a1a8188395
6:112437162 LAMA4 A>T	6	112437162	112437162	A	T	LAMA4	c.5016T>A	NM_001105206.3	NP_001098676.2:p.(Ile1672=)	NC_000006.11:g.112437162A>T	(Likely) benign	4 labs	a1aa408e33
2:73827881 ALMS1 C>T	2	73827881	73827881	C	T	ALMS1	c.11748C>T	NM_015120.4	NP_055935.4:p.(Ser3916=)	NC_000002.11:g.73827881C>T	(Likely) benign	3 labs	a1c7499575
7:91726604 AKAP9 A>G	7	91726604	91726604	A	G	AKAP9	c.10331A>G	NM_005751.5	NP_005742.4:p.(Gln3444Arg)	NC_000007.13:g.91726604A>G	(Likely) benign	2 labs	a1e40e6c73
7:128486025 FLNC C>T	7	128486025	128486025	C	T	FLNC	c.3791-19C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486025C>T	(Likely) benign	2 labs	a1ec0325c3
1:43906169 SZT2 G>A	1	43906169	43906169	G	A	SZT2	c.7256G>A	NM_001365999.1	NP_001352928.1:p.(Arg2419Gln)	NC_000001.10:g.43906169G>A	(Likely) benign	2 labs	a1f15f4e72
14:23862975 MYH6 C>T	14	23862975	23862975	C	T	MYH6	c.2828G>A	NM_002471.4	NP_002462.2:p.(Arg943His)	NC_000014.8:g.23862975C>T	VUS	2 labs	a217c3e2f8
5:54529089 CCNO T>TGGGCC	5	54529089	54529103	T	TGGGCC	CCNO	c.258_262dup	NM_021147.5	NP_066970.3:p.(Gln88ArgfsTer8)	NC_000005.9:g.54529099_54529103dup	(Likely) pathogenic	2 labs	a23d123f6e
3:38770299 SCN10A T>C	3	38770299	38770299	T	C	SCN10A	c.2374A>G	NM_006514.4	NP_006505.4:p.(Ile792Val)	NC_000003.11:g.38770299T>C	(Likely) benign	2 labs	a22edb16d5
15:44944037 SPG11 C>T	15	44944037	44944037	C	T	SPG11	c.1108G>A	NM_025137.4	NP_079413.3:p.(Glu370Lys)	NC_000015.9:g.44944037C>T	(Likely) benign	4 labs	a27c205e39
12:7045891 ATN1 ACAGCAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAGCAG	A	ATN1	c.1497_1508del	NM_001007026.2	NP_001007027.1:p.(Gln499_Gln502del)	NC_000012.11:g.7045927_7045938del	(Likely) benign	3 labs	a278c07394
2:179466065 TTN C>T	2	179466065	179466065	C	T	TTN	c.55659G>A	NM_001267550.2	NP_001254479.2:p.(Val18553=)	NC_000002.11:g.179466065C>T	(Likely) benign	2 labs	a285a78ed0
1:227170697 COQ8A C>T	1	227170697	227170697	C	T	COQ8A	c.1042C>T	NM_020247.5	NP_064632.2:p.(Arg348Ter)	NC_000001.10:g.227170697C>T	(Likely) pathogenic	4 labs	a28a83e8ab
5:127595366 FBN2 G>A	5	127595366	127595366	G	A	FBN2	c.8520C>T	NM_001999.4	NP_001990.2:p.(Asn2840=)	NC_000005.9:g.127595366G>A	(Likely) benign	2 labs	a29e09cb2a
1:45800167 MUTYH G>A	1	45800167	45800167	G	A	MUTYH	c.53C>T	NM_001128425.2	NP_001121897.1:p.(Pro18Leu)	NC_000001.10:g.45800167G>A	(Likely) benign	3 labs	a2d7cd7ab8
18:21112206 NPC1 C>T	18	21112206	21112206	C	T	NPC1	c.3797G>A	NM_000271.5	NP_000262.2:p.(Arg1266Gln)	NC_000018.9:g.21112206C>T	(Likely) benign	3 labs	a2e7dff509
16:88901596 GALNS G>C	16	88901596	88901596	G	C	GALNS	c.916+25C>G	NM_001323544.2	NP_001310473.1:p.?	NC_000016.9:g.88901596G>C	(Likely) benign	2 labs	a2e83ed646
4:114278927 ANK2 C>T	4	114278927	114278927	C	T	ANK2	c.9153C>T	NM_001148.6	NP_001139.3:p.(Asp3051=)	NC_000004.11:g.114278927C>T	(Likely) benign	2 labs	a2f6170f7b
17:12915009 ELAC2 G>A	17	12915009	12915009	G	A	ELAC2	c.650C>T	NM_018127.7	NP_060597.4:p.(Ser217Leu)	NC_000017.10:g.12915009G>A	(Likely) benign	3 labs	a2fa67646e
2:220284956 DES C>T	2	220284956	220284956	C	T	DES	c.640-17C>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220284956C>T	(Likely) benign	2 labs	a2fe7a143e
18:25543452 CDH2 T>G	18	25543452	25543452	T	G	CDH2	c.2383A>C	NM_001792.5	NP_001783.2:p.(Thr795Pro)	NC_000018.9:g.25543452T>G	(Likely) benign	2 labs	a334408928
4:123664906 BBS12 A>G	4	123664906	123664906	A	G	BBS12	c.1859A>G	NM_001178007.2	NP_001171478.1:p.(Gln620Arg)	NC_000004.11:g.123664906A>G	VUS	2 labs	a33dd78e46
12:22061050 ABCC9 A>G	12	22061050	22061050	A	G	ABCC9	c.1416T>C	NM_020297.4	NP_064693.2:p.(Phe472=)	NC_000012.11:g.22061050A>G	(Likely) benign	4 labs	a38db0e177
2:241727627 KIF1A C>A	2	241727627	241727627	C	A	KIF1A	c.204G>T	NM_001244008.2	NP_001230937.1:p.(Ala68=)	NC_000002.11:g.241727627C>A	(Likely) benign	2 labs	a392b6389c
16:70867855 HYDIN G>C	16	70867855	70867855	G	C	HYDIN	c.13614C>G	NM_001270974.2	NP_001257903.1:p.(Pro4538=)	NC_000016.9:g.70867855G>C	(Likely) benign	2 labs	a39553b86e
14:23876216 MYH6 G>A	14	23876216	23876216	G	A	MYH6	c.201+16C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23876216G>A	(Likely) benign	3 labs	a3ac89d351
16:15917143 MYH11 G>A	16	15917143	15917143	G	A	MYH11	c.471C>T	NM_002474.3	NP_002465.1:p.(Ile157=)	NC_000016.9:g.15917143G>A	(Likely) benign	2 labs	a3b1cdf2ba
15:72104317 NR2E3 G>A	15	72104317	72104317	G	A	NR2E3	c.372G>A	NM_016346.4	NP_057430.1:p.(Pro124=)	NC_000015.9:g.72104317G>A	(Likely) benign	2 labs	a3ba975721
3:132169705 DNAJC13 T>TA	3	132169705	132169717	T	TA	DNAJC13	c.537+26dup	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132169717dup	(Likely) benign	2 labs	a3bf41b220
19:15276865 NOTCH3 C>A	19	15276865	15276865	C	A	NOTCH3	c.5400G>T	NM_000435.3	NP_000426.2:p.(Gly1800=)	NC_000019.9:g.15276865C>A	(Likely) benign	2 labs	a41393a748
5:1294191 TERT G>A	5	1294191	1294191	G	A	TERT	c.810C>T	NM_198253.3	NP_937983.2:p.(Phe270=)	NC_000005.9:g.1294191G>A	(Likely) benign	2 labs	a41567b918
X:153608115 EMD C>T	X	153608115	153608115	C	T	EMD	c.148C>T	NM_000117.3	NP_000108.1:p.(Pro50Ser)	NC_000023.10:g.153608115C>T	VUS	2 labs	a490fdd771
6:32006858 CYP21A2 C>G	6	32006858	32006858	C	G	CYP21A2	c.293-13C>G	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32006858C>G	(Likely) pathogenic	2 labs	a4970d3e56
11:64956204 CAPN1 C>T	11	64956204	64956204	C	T	CAPN1	c.1152C>T	NM_005186.4	NP_005177.2:p.(Cys384=)	NC_000011.9:g.64956204C>T	(Likely) benign	3 labs	a4a60b7a6d
X:38178162 RPGR A>C	X	38178162	38178162	A	C	RPGR	c.389T>G	NM_001034853.2	NP_001030025.1:p.(Phe130Cys)	NC_000023.10:g.38178162A>C	(Likely) pathogenic	3 labs	a4bf4b408b
14:23858276 MYH6 G>T	14	23858276	23858276	G	T	MYH6	c.3979-12C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858276G>T	(Likely) benign	2 labs	a4e1e95d1e
1:78395122 NEXN CAGA>C	1	78395122	78395133	CAGA	C	NEXN	c.995_997del	NM_144573.4	NP_653174.3:p.(Glu332del)	NC_000001.10:g.78395131_78395133del	VUS	3 labs	a4ec89d7b9
19:1220572 STK11 C>T	19	1220572	1220572	C	T	STK11	c.598-8C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220572C>T	(Likely) benign	2 labs	a501492f45
1:94520708 ABCA4 A>G	1	94520708	94520708	A	G	ABCA4	c.2546T>C	NM_000350.3	NP_000341.2:p.(Val849Ala)	NC_000001.10:g.94520708A>G	VUS	2 labs	a5032eba4a
5:77334946 AP3B1 A>G	5	77334946	77334946	A	G	AP3B1	c.2583T>C	NM_001271769.2	NP_001258698.1:p.(Thr861=)	NC_000005.9:g.77334946A>G	(Likely) benign	3 labs	a507ba3052
19:38993556 RYR1 C>T	19	38993556	38993556	C	T	RYR1	c.7872C>T	NM_000540.3	NP_000531.2:p.(Arg2624=)	NC_000019.9:g.38993556C>T	(Likely) benign	2 labs	a5291ad83c
20:57429627 GNAS C>A	20	57429627	57429627	C	A	GNAS	c.1120C>A	NM_001077490.3	NP_001070958.1:p.(Pro374Thr)	NC_000020.10:g.57429627C>A	(Likely) benign	2 labs	a53a45fb9b
15:91295110 BLM C>T	15	91295110	91295110	C	T	BLM	c.893C>T	NM_000057.4	NP_000048.1:p.(Thr298Met)	NC_000015.9:g.91295110C>T	(Likely) benign	2 labs	a54c7ae15a
16:53720436 RPGRIP1L C>T	16	53720436	53720436	C	T	RPGRIP1L	c.685G>A	NM_015272.5	NP_056087.2:p.(Ala229Thr)	NC_000016.9:g.53720436C>T	(Likely) benign	4 labs	a54f678a1c
4:88536901 DSPP CAGCAGTGACAGCAGCGAT>C	4	88536901	88536969	CAGCAGTGACAGCAGCGAT	C	DSPP	c.3138_3155del	NM_014208.3	NP_055023.2:p.(Asp1050_Ser1055del)	NC_000004.11:g.88536952_88536969del	(Likely) benign	2 labs	a56ba07f50
8:42294872 SLC20A2 G>T	8	42294872	42294872	G	T	SLC20A2	c.1158C>A	NM_001257180.2	NP_001244109.1:p.(Tyr386Ter)	NC_000008.10:g.42294872G>T	(Likely) pathogenic	2 labs	a56bb89570
1:237865367 RYR2 T>A	1	237865367	237865367	T	A	RYR2	c.9449+8T>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237865367T>A	(Likely) benign	4 labs	a57c23d386
2:179517213 TTN A>G	2	179517213	179517213	A	G	TTN	c.31797T>C	NM_133378.4	NP_596869.4:p.(Pro10599=)	NC_000002.11:g.179517213A>G	(Likely) benign	2 labs	a58de41ad6
1:237791333 RYR2 T>C	1	237791333	237791333	T	C	RYR2	c.6393T>C	NM_001035.3	NP_001026.2:p.(Ser2131=)	NC_000001.10:g.237791333T>C	(Likely) benign	2 labs	a5b208d979
2:179567383 TTN T>C	2	179567383	179567383	T	C	TTN	c.30231A>G	NM_001267550.2	NP_001254479.2:p.(Pro10077=)	NC_000002.11:g.179567383T>C	(Likely) benign	2 labs	a5b39adad4
8:10467670 RP1L1 TCTC>T	8	10467670	10467675	TCTC	T	RP1L1	c.3935_3937del	NM_178857.6	NP_849188.4:p.(Gly1312del)	NC_000008.10:g.10467673_10467675del	(Likely) benign	2 labs	a5d7c7bd83
X:48768871 SLC35A2 G>T	X	48768871	48768871	G	T	SLC35A2	c.43C>A	NM_001282651.2	NP_001269580.1:p.(Pro15Thr)	NC_000023.10:g.48768871G>T	(Likely) benign	2 labs	a5db54301a
21:34059352 SYNJ1 T>C	21	34059352	34059352	T	C	SYNJ1	c.1001A>G	NM_003895.3	NP_003886.3:p.(Lys334Arg)	NC_000021.8:g.34059352T>C	(Likely) benign	2 labs	a5f93a67a6
9:139412599 NOTCH1 C>T	9	139412599	139412599	C	T	NOTCH1	c.1245G>A	NM_017617.5	NP_060087.3:p.(Glu415=)	NC_000009.11:g.139412599C>T	(Likely) benign	3 labs	a5fbb14a38
2:73613031 ALMS1 TGGAGGA>T	2	73613031	73613070	TGGAGGA	T	ALMS1	c.69_77del	NM_015120.4	NP_055935.4:p.(Glu27_Glu29del)	NC_000002.11:g.73613065_73613070del	(Likely) benign	4 labs	a5dbae615b
16:2133726 TSC2 C>T	16	2133726	2133726	C	T	TSC2	c.3914C>T	NM_000548.5	NP_000539.2:p.(Pro1305Leu)	NC_000016.9:g.2133726C>T	(Likely) benign	2 labs	a607b4208f
14:23897851 MYH7 T>G	14	23897851	23897851	T	G	MYH7	c.1436A>C	NM_000257.4	NP_000248.2:p.(Asn479Thr)	NC_000014.8:g.23897851T>G	VUS	3 labs	a60aff2021
12:21377702 SLCO1B1 G>A	12	21377702	21377702	G	A	SLCO1B1	c.1794G>A	NM_006446.5	NP_006437.3:p.(Thr598=)	NC_000012.11:g.21377702G>A	(Likely) benign	2 labs	a60cbb2df4
22:50657008 TUBGCP6 C>T	22	50657008	50657008	C	T	TUBGCP6	c.4863G>A	NM_020461.4	NP_065194.3:p.(Val1621=)	NC_000022.10:g.50657008C>T	(Likely) benign	2 labs	a618796414
9:396836 DOCK8 C>T	9	396836	396836	C	T	DOCK8	c.3022C>T	NM_203447.4	NP_982272.2:p.(Arg1008Trp)	NC_000009.11:g.396836C>T	(Likely) benign	2 labs	a63b742378
3:58110191 FLNB C>T	3	58110191	58110191	C	T	FLNB	c.3857C>T	NM_001164317.2	NP_001157789.1:p.(Ala1286Val)	NC_000003.11:g.58110191C>T	(Likely) benign	2 labs	a655e03658
1:100671865 DBT T>TA	1	100671865	100671866	T	TA	DBT	c.1210-9_1210-8insT	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671865_100671866insA	(Likely) benign	2 labs	a66a58902f
3:57817096 SLMAP G>GT	3	57817096	57817105	G	GT	SLMAP	c.199-5dup	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57817105dup	(Likely) benign	2 labs	a6bdc01a1e
6:7576579 DSP T>C	6	7576579	7576579	T	C	DSP	c.2683T>C	NM_004415.4	NP_004406.2:p.(Tyr895His)	NC_000006.11:g.7576579T>C	(Likely) benign	2 labs	a6c2f877c8
1:196642173 CFH T>G	1	196642173	196642173	T	G	CFH	c.124T>G	NM_000186.4	NP_000177.2:p.(Tyr42Asp)	NC_000001.10:g.196642173T>G	VUS	3 labs	a6c734a921
12:2714969 CACNA1C G>A	12	2714969	2714969	G	A	CACNA1C	c.3216+17G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2714969G>A	(Likely) benign	3 labs	a6d11e4eab
5:112163698 APC C>T	5	112163698	112163698	C	T	APC	c.1621C>T	NM_000038.6	NP_000029.2:p.(Gln541Ter)	NC_000005.9:g.112163698C>T	(Likely) pathogenic	2 labs	a71f09b55d
10:88476339 LDB3 T>C	10	88476339	88476339	T	C	LDB3	c.1502T>C	NM_001171610.2	NP_001165081.1:p.(Phe501Ser)	NC_000010.10:g.88476339T>C	VUS	2 labs	a73f025ec6
4:39226486 WDR19 A>AT	4	39226486	39226501	A	AT	WDR19	c.1480-3dup	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39226501dup	(Likely) benign	2 labs	a758459e8d
1:152284478 FLG A>G	1	152284478	152284478	A	G	FLG	c.2884T>C	NM_002016.2	NP_002007.1:p.(Trp962Arg)	NC_000001.10:g.152284478A>G	(Likely) benign	3 labs	a797655b7e
3:14173190 TMEM43 G>A	3	14173190	14173190	G	A	TMEM43	c.392+16G>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14173190G>A	(Likely) benign	3 labs	a7c7ca3ed7
X:107978343 IRS4 C>T	X	107978343	107978343	C	T	IRS4	c.1232G>A	NM_003604.2	NP_003595.1:p.(Arg411Gln)	NC_000023.10:g.107978343C>T	(Likely) benign	2 labs	a7c9e2cfc5
4:15539735 CC2D2A G>C	4	15539735	15539735	G	C	CC2D2A	c.1978G>C	NM_001080522.2	NP_001073991.2:p.(Val660Leu)	NC_000004.11:g.15539735G>C	(Likely) benign	3 labs	a7db2ecd77
3:38622457 SCN5A TCTC>T	3	38622457	38622463	TCTC	T	SCN5A	c.3190_3192del	NM_001099404.2	NP_001092874.1:p.(Glu1064del)	NC_000003.11:g.38622461_38622463del	VUS	2 labs	a81d7bd4db
8:62550924 ASPH T>TA	8	62550924	62550937	T	TA	ASPH	c.791-3dup	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62550937dup	(Likely) benign	2 labs	a867979438
9:95477582 BICD2 G>A	9	95477582	95477582	G	A	BICD2	c.2422C>T	NM_001003800.2	NP_001003800.1:p.(Arg808Cys)	NC_000009.11:g.95477582G>A	VUS	3 labs	a8a9bc3e5c
18:21124907 NPC1 A>ACCCCC	18	21124907	21124916	A	ACCCCC	NPC1	c.1947+12_1947+16dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124912_21124916dup	(Likely) benign	2 labs	a8ae6c94ae
2:179413139 TTN G>A	2	179413139	179413139	G	A	TTN	c.93214C>T	NM_001267550.2	NP_001254479.2:p.(Arg31072Cys)	NC_000002.11:g.179413139G>A	VUS	2 labs	a8cd6a86ad
2:179398560 TTN G>T	2	179398560	179398560	G	T	TTN	c.102782C>A	NM_001267550.2	NP_001254479.2:p.(Thr34261Asn)	NC_000002.11:g.179398560G>T	VUS	2 labs	a8d3ca1ee6
11:17418531 ABCC8 C>T	11	17418531	17418531	C	T	ABCC8	c.4117G>A	NM_001351295.2	NP_001338224.1:p.(Val1373Met)	NC_000011.9:g.17418531C>T	VUS	2 labs	a8d79f38a5
2:113309473 POLR1B C>T	2	113309473	113309473	C	T	POLR1B	c.467C>T	NM_001282777.2	NP_001269706.1:p.(Ser156Leu)	NC_000002.11:g.113309473C>T	(Likely) benign	2 labs	a8e6f333a3
1:2234849 SKI C>T	1	2234849	2234849	C	T	SKI	c.1211+10C>T	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2234849C>T	(Likely) benign	2 labs	a931e5440c
2:189975187 COL5A2 A>C	2	189975187	189975187	A	C	COL5A2	c.98-12T>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189975187A>C	(Likely) benign	2 labs	a941d809eb
7:91632297 AKAP9 A>G	7	91632297	91632297	A	G	AKAP9	c.3066A>G	NM_005751.5	NP_005742.4:p.(Gly1022=)	NC_000007.13:g.91632297A>G	(Likely) benign	2 labs	a942853572
18:19437101 MIB1 C>T	18	19437101	19437101	C	T	MIB1	c.2676C>T	NM_020774.4	NP_065825.1:p.(Asn892=)	NC_000018.9:g.19437101C>T	(Likely) benign	2 labs	a948fc4c16
7:128484816 FLNC A>G	7	128484816	128484816	A	G	FLNC	c.3297A>G	NM_001458.5	NP_001449.3:p.(Val1099=)	NC_000007.13:g.128484816A>G	(Likely) benign	2 labs	a9720feb07
16:70294995 AARS1 G>A	16	70294995	70294995	G	A	AARS1	c.1737C>T	NM_001605.3	NP_001596.2:p.(Ile579=)	NC_000016.9:g.70294995G>A	(Likely) benign	3 labs	a977a160e1
17:41243788 BRCA1 TAG>T	17	41243788	41243791	TAG	T	BRCA1	c.3758_3759del	NM_007294.4	NP_009225.1:p.(Ser1253Ter)	NC_000017.10:g.41243790_41243791del	(Likely) pathogenic	2 labs	a987ed7240
15:85384085 ALPK3 G>A	15	85384085	85384085	G	A	ALPK3	c.1575G>A	NM_020778.5	NP_065829.4:p.(Pro525=)	NC_000015.9:g.85384085G>A	(Likely) benign	2 labs	a98fb33148
9:135773000 TSC1 GA>G	9	135773000	135773018	GA	G	TSC1	c.2626-4del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773018del	(Likely) benign	4 labs	a9c42a4b20
15:31294896 TRPM1 G>A	15	31294896	31294896	G	A	TRPM1	c.4058C>T	NM_001252020.2	NP_001238949.1:p.(Thr1353Met)	NC_000015.9:g.31294896G>A	(Likely) benign	2 labs	a9c94b991e
6:7585240 DSP T>G	6	7585240	7585240	T	G	DSP	c.7745T>G	NM_004415.4	NP_004406.2:p.(Phe2582Cys)	NC_000006.11:g.7585240T>G	VUS	3 labs	aa3d83d01f
15:28518046 HERC2 G>A	15	28518046	28518046	G	A	HERC2	c.905C>T	NM_004667.6	NP_004658.3:p.(Thr302Met)	NC_000015.9:g.28518046G>A	(Likely) benign	2 labs	aa423ad6ad
2:152528910 NEB C>G	2	152528910	152528910	C	G	NEB	c.4272G>C	NM_001271208.2	NP_001258137.2:p.(Thr1424=)	NC_000002.11:g.152528910C>G	(Likely) benign	3 labs	aa56e5e076
15:23889878 MAGEL2 A>G	15	23889878	23889878	A	G	MAGEL2	c.3012T>C	NM_019066.5	NP_061939.3:p.(Ser1004=)	NC_000015.9:g.23889878A>G	(Likely) benign	2 labs	aa7b1e7975
14:102449567 DYNC1H1 A>G	14	102449567	102449567	A	G	DYNC1H1	c.1173A>G	NM_001376.5	NP_001367.2:p.(Gln391=)	NC_000014.8:g.102449567A>G	(Likely) benign	2 labs	aa949297c6
12:2788615 CACNA1C C>T	12	2788615	2788615	C	T	CACNA1C	c.5241C>T	NM_199460.4	NP_955630.3:p.(Ala1747=)	NC_000012.11:g.2788615C>T	(Likely) benign	3 labs	aa97e568f5
15:90630372 IDH2 T>C	15	90630372	90630372	T	C	IDH2	c.549A>G	NM_001290114.2	NP_001277043.1:p.(Gly183=)	NC_000015.9:g.90630372T>C	(Likely) benign	2 labs	aa9b90ba25
22:51160154 SHANK3 G>A	22	51160154	51160154	G	A	SHANK3	c.4118G>A	NM_001372044.2	NP_001358973.1:p.(Arg1373Lys)	NC_000022.10:g.51160154G>A	(Likely) benign	2 labs	aacee3b2df
X:153580824 FLNA T>C	X	153580824	153580824	T	C	FLNA	c.6503-9A>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153580824T>C	(Likely) benign	3 labs	aad6c46cad
17:63554006 AXIN2 G>A	17	63554006	63554006	G	A	AXIN2	c.733C>T	NM_004655.4	NP_004646.3:p.(Pro245Ser)	NC_000017.10:g.63554006G>A	(Likely) benign	4 labs	aadd28b15d
15:73615425 HCN4 C>T	15	73615425	73615425	C	T	HCN4	c.3009G>A	NM_005477.3	NP_005468.1:p.(Pro1003=)	NC_000015.9:g.73615425C>T	(Likely) benign	3 labs	ab1c720828
14:23853777 MYH6 C>T	14	23853777	23853777	C	T	MYH6	c.5439G>A	NM_002471.4	NP_002462.2:p.(Gln1813=)	NC_000014.8:g.23853777C>T	(Likely) benign	2 labs	ab29d46533
3:37067101 MLH1 T>A	3	37067101	37067101	T	A	MLH1	c.1039-27T>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067101T>A	(Likely) benign	2 labs	ab493c7ce5
1:228461504 OBSCN G>A	1	228461504	228461504	G	A	OBSCN	c.5171G>A	NM_052843.4	NP_443075.3:p.(Arg1724His)	NC_000001.10:g.228461504G>A	(Likely) benign	2 labs	ab9565f269
2:228563653 SLC19A3 CCA>C	2	228563653	228563657	CCA	C	SLC19A3	c.776_777del	NM_025243.4	NP_079519.1:p.(Val259GlyfsTer34)	NC_000002.11:g.228563656_228563657del	(Likely) pathogenic	2 labs	abada3a72b
1:116269698 CASQ2 C>T	1	116269698	116269698	C	T	CASQ2	c.652G>A	NM_001232.4	NP_001223.2:p.(Glu218Lys)	NC_000001.10:g.116269698C>T	VUS	2 labs	aba8b228a0
17:1673212 SERPINF1 G>A	17	1673212	1673212	G	A	SERPINF1	c.151G>A	NM_002615.7	NP_002606.3:p.(Val51Met)	NC_000017.10:g.1673212G>A	(Likely) benign	2 labs	abd4945bb0
1:92756989 GLMN C>T	1	92756989	92756989	C	T	GLMN	c.271G>A	NM_053274.3	NP_444504.1:p.(Asp91Asn)	NC_000001.10:g.92756989C>T	(Likely) benign	2 labs	abecc9a760
11:61727469 BEST1 G>A	11	61727469	61727469	G	A	BEST1	c.82G>A	NM_001363593.2	NP_001350522.1:p.(Ala28Thr)	NC_000011.9:g.61727469G>A	VUS	2 labs	ac105e2e29
15:48782235 FBN1 C>T	15	48782235	48782235	C	T	FBN1	c.2895G>A	NM_000138.5	NP_000129.3:p.(Glu965=)	NC_000015.9:g.48782235C>T	(Likely) benign	2 labs	ac10ef6822
2:238449570 MLPH G>A	2	238449570	238449570	G	A	MLPH	c.1416G>A	NM_024101.7	NP_077006.1:p.(Thr472=)	NC_000002.11:g.238449570G>A	(Likely) benign	2 labs	ac4dcb8143
1:45974849 MMACHC A>G	1	45974849	45974849	A	G	MMACHC	c.811A>G	NM_015506.3	NP_056321.2:p.(Ser271Gly)	NC_000001.10:g.45974849A>G	(Likely) benign	2 labs	ac5415b73d
2:121726366 GLI2 C>T	2	121726366	121726366	C	T	GLI2	c.720C>T	NM_005270.5	NP_005261.2:p.(Asp240=)	NC_000002.11:g.121726366C>T	(Likely) benign	2 labs	ac7ac48cd6
12:52180340 SCN8A C>T	12	52180340	52180340	C	T	SCN8A	c.3957C>T	NM_001330260.2	NP_001317189.1:p.(Ala1319=)	NC_000012.11:g.52180340C>T	(Likely) benign	4 labs	ac8ecad2a3
9:79999547 VPS13A GTGA>G	9	79999547	79999580	GTGA	G	VPS13A	c.9267_9269del	NM_015186.4	NP_056001.1:p.(Asp3089del)	NC_000009.11:g.79999578_79999580del	(Likely) benign	3 labs	ac95dcf12e
2:179644019 TTN A>G	2	179644019	179644019	A	G	TTN	c.3900T>C	NM_001267550.2	NP_001254479.2:p.(Tyr1300=)	NC_000002.11:g.179644019A>G	(Likely) benign	2 labs	aca7a64863
2:179404353 TTN C>T	2	179404353	179404353	C	T	TTN	c.98439G>A	NM_001267550.2	NP_001254479.2:p.(Val32813=)	NC_000002.11:g.179404353C>T	(Likely) benign	2 labs	acf4469239
16:23647503 PALB2 C>T	16	23647503	23647503	C	T	PALB2	c.364G>A	NM_024675.4	NP_078951.2:p.(Asp122Asn)	NC_000016.9:g.23647503C>T	(Likely) benign	3 labs	acfb463159
12:22013896 ABCC9 A>G	12	22013896	22013896	A	G	ABCC9	c.2424+9T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22013896A>G	(Likely) benign	4 labs	ad6b239119
14:23858217 MYH6 G>A	14	23858217	23858217	G	A	MYH6	c.4026C>T	NM_002471.4	NP_002462.2:p.(Cys1342=)	NC_000014.8:g.23858217G>A	(Likely) benign	4 labs	ad8e16dc53
2:179604679 TTN G>A	2	179604679	179604679	G	A	TTN	c.13281C>T	NM_001267550.2	NP_001254479.2:p.(Val4427=)	NC_000002.11:g.179604679G>A	(Likely) benign	2 labs	ad88559106
18:19353696 MIB1 A>C	18	19353696	19353696	A	C	MIB1	c.636+7A>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19353696A>C	(Likely) benign	4 labs	ad8a9552c2
1:236918483 ACTN2 G>A	1	236918483	236918483	G	A	ACTN2	c.1515G>A	NM_001278344.2	NP_001265273.1:p.(Thr505=)	NC_000001.10:g.236918483G>A	(Likely) benign	3 labs	ad8d4d53d6
2:179594488 TTN C>T	2	179594488	179594488	C	T	TTN	c.18492G>A	NM_001267550.2	NP_001254479.2:p.(Gln6164=)	NC_000002.11:g.179594488C>T	(Likely) benign	2 labs	adcb3a2a13
22:40760969 ADSL G>A	22	40760969	40760969	G	A	ADSL	c.1277G>A	NM_001363840.3	NP_001350769.1:p.(Arg426His)	NC_000022.10:g.40760969G>A	(Likely) pathogenic	3 labs	add3fa9fe3
2:220082504 ABCB6 C>T	2	220082504	220082504	C	T	ABCB6	c.575G>A	NM_005689.4	NP_005680.1:p.(Arg192Gln)	NC_000002.11:g.220082504C>T	(Likely) benign	4 labs	ae1137c6c0
2:44058891 ABCG5 C>CG	2	44058891	44058897	C	CG	ABCG5	c.501+16dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44058897dup	(Likely) benign	2 labs	ae18fd0bae
9:34635620 SIGMAR1 C>G	9	34635620	34635620	C	G	SIGMAR1	c.*9G>C	NM_005866.4	NP_005857.1:p.?	NC_000009.11:g.34635620C>G	(Likely) benign	2 labs	ae2a1480c7
5:127613663 FBN2 G>A	5	127613663	127613663	G	A	FBN2	c.7380C>T	NM_001999.4	NP_001990.2:p.(Cys2460=)	NC_000005.9:g.127613663G>A	(Likely) benign	3 labs	ae2db8b21a
16:88800060 PIEZO1 C>T	16	88800060	88800060	C	T	PIEZO1	c.2423G>A	NM_001142864.4	NP_001136336.2:p.(Arg808Gln)	NC_000016.9:g.88800060C>T	(Likely) benign	3 labs	ae3eb87b21
14:23282449 SLC7A7 C>T	14	23282449	23282449	C	T	SLC7A7	c.159G>A	NM_001126106.4	NP_001119578.1:p.(Ser53=)	NC_000014.8:g.23282449C>T	(Likely) benign	3 labs	ae5ba5315c
12:7045891 ATN1 ACAGCAGCAGCAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAGCAGCAGCAG	A	ATN1	c.1491_1508del	NM_001007026.2	NP_001007027.1:p.(Gln497_Gln502del)	NC_000012.11:g.7045921_7045938del	(Likely) benign	3 labs	aefaeda23a
10:73558271 CDH23 G>T	10	73558271	73558271	G	T	CDH23	c.6990G>T	NM_022124.6	NP_071407.4:p.(Leu2330=)	NC_000010.10:g.73558271G>T	(Likely) benign	2 labs	aef3a90586
19:10922947 DNM2 G>A	19	10922947	10922947	G	A	DNM2	c.1565G>A	NM_001005360.3	NP_001005360.1:p.(Arg522His)	NC_000019.9:g.10922947G>A	(Likely) pathogenic	2 labs	af579f3101
2:179643610 TTN C>G	2	179643610	179643610	C	G	TTN	c.4199G>C	NM_001267550.2	NP_001254479.2:p.(Ser1400Thr)	NC_000002.11:g.179643610C>G	(Likely) benign	3 labs	af6cc57da6
16:16267147 ABCC6 G>A	16	16267147	16267147	G	A	ABCC6	c.2781C>T	NM_001171.6	NP_001162.5:p.(Tyr927=)	NC_000016.9:g.16267147G>A	(Likely) benign	3 labs	af6fa7c698
19:48339520 CRX C>T	19	48339520	48339520	C	T	CRX	c.121C>T	NM_000554.6	NP_000545.1:p.(Arg41Trp)	NC_000019.9:g.48339520C>T	(Likely) pathogenic	2 labs	af9a73eaec
X:13778718 OFD1 C>T	X	13778718	13778718	C	T	OFD1	c.2139C>T	NM_003611.3	NP_003602.1:p.(Val713=)	NC_000023.10:g.13778718C>T	(Likely) benign	2 labs	afdede6ac1
9:133759712 ABL1 T>G	9	133759712	133759712	T	G	ABL1	c.2035T>G	NM_005157.6	NP_005148.2:p.(Ser679Ala)	NC_000009.11:g.133759712T>G	(Likely) benign	3 labs	afe90b1ba1
5:156672796 ITK A>T	5	156672796	156672796	A	T	ITK	c.1510A>T	NM_005546.4	NP_005537.3:p.(Thr504Ser)	NC_000005.9:g.156672796A>T	(Likely) benign	3 labs	afeb19bbc8
10:73492069 CDH23 G>A	10	73492069	73492069	G	A	CDH23	c.4041G>A	NM_022124.6	NP_071407.4:p.(Thr1347=)	NC_000010.10:g.73492069G>A	(Likely) benign	2 labs	affcf5687e
11:32456526 WT1 G>C	11	32456526	32456526	G	C	WT1	c.381C>G	NM_024426.6	NP_077744.4:p.(Pro127=)	NC_000011.9:g.32456526G>C	(Likely) benign	2 labs	b01efe3ded
1:103496792 COL11A1 A>G	1	103496792	103496792	A	G	COL11A1	c.660T>C	NM_080629.3	NP_542196.2:p.(Ile220=)	NC_000001.10:g.103496792A>G	(Likely) benign	3 labs	b024c4cada
4:6293721 WFS1 G>A	4	6293721	6293721	G	A	WFS1	c.709G>A	NM_006005.3	NP_005996.2:p.(Glu237Lys)	NC_000004.11:g.6293721G>A	VUS	3 labs	b02b4d1fbc
16:68857277 CDH1 C>A	16	68857277	68857277	C	A	CDH1	c.1937-25C>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68857277C>A	(Likely) benign	2 labs	b0447abb12
11:108121410 ATM CT>C	11	108121410	108121425	CT	C	ATM	c.1236-3del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121425del	(Likely) benign	3 labs	b04690d4ae
16:2168364 PKD1 C>T	16	2168364	2168364	C	T	PKD1	c.629G>A	NM_001009944.3	NP_001009944.3:p.(Cys210Tyr)	NC_000016.9:g.2168364C>T	(Likely) pathogenic	3 labs	b04b387910
X:32867945 DMD T>TA	X	32867945	32867953	T	TA	DMD	c.94-9dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32867953dup	(Likely) benign	3 labs	b0505902c4
2:179611680 TTN G>A	2	179611680	179611680	G	A	TTN	c.15447C>T	NM_133379.5	NP_596870.2:p.(Tyr5149=)	NC_000002.11:g.179611680G>A	(Likely) benign	3 labs	b0a3518685
9:95481677 BICD2 T>C	9	95481677	95481677	T	C	BICD2	c.1250A>G	NM_001003800.2	NP_001003800.1:p.(Asp417Gly)	NC_000009.11:g.95481677T>C	VUS	2 labs	b0a810745d
12:40702911 LRRK2 G>A	12	40702911	40702911	G	A	LRRK2	c.4193G>A	NM_198578.4	NP_940980.4:p.(Arg1398His)	NC_000012.11:g.40702911G>A	(Likely) benign	3 labs	b0f5e16492
3:178952085 PIK3CA A>G	3	178952085	178952085	A	G	PIK3CA	c.3140A>G	NM_006218.4	NP_006209.2:p.(His1047Arg)	NC_000003.11:g.178952085A>G	(Likely) pathogenic	2 labs	b0f89b5530
15:44858499 SPG11 G>C	15	44858499	44858499	G	C	SPG11	c.6759C>G	NM_025137.4	NP_079413.3:p.(Asp2253Glu)	NC_000015.9:g.44858499G>C	(Likely) benign	2 labs	b107eefcc1
1:22201132 HSPG2 C>T	1	22201132	22201132	C	T	HSPG2	c.3508G>A	NM_001291860.2	NP_001278789.1:p.(Glu1170Lys)	NC_000001.10:g.22201132C>T	VUS	2 labs	b11616372e
19:50728876 MYH14 C>A	19	50728876	50728876	C	A	MYH14	c.752C>A	NM_001145809.2	NP_001139281.1:p.(Pro251His)	NC_000019.9:g.50728876C>A	VUS	3 labs	b13ec7b67a
6:42626564 UBR2 T>TA	6	42626564	42626584	T	TA	UBR2	c.3242+22dup	NM_015255.3	NP_056070.1:p.?	NC_000006.11:g.42626584dup	(Likely) benign	2 labs	b13f16135f
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln297_Gln305dup)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	2 labs	b175d59b9f
2:179430178 TTN C>G	2	179430178	179430178	C	G	TTN	c.80681G>C	NM_001267550.2	NP_001254479.2:p.(Gly26894Ala)	NC_000002.11:g.179430178C>G	VUS	2 labs	b19505fc99
9:135204506 SETX T>C	9	135204506	135204506	T	C	SETX	c.2479A>G	NM_015046.7	NP_055861.3:p.(Lys827Glu)	NC_000009.11:g.135204506T>C	(Likely) benign	3 labs	b197dc559b
19:46057081 OPA3 A>G	19	46057081	46057081	A	G	OPA3	c.231T>C	NM_025136.4	NP_079412.1:p.(Ala77=)	NC_000019.9:g.46057081A>G	(Likely) benign	2 labs	b1e494c354
2:179476161 TTN T>C	2	179476161	179476161	T	C	TTN	c.50795A>G	NM_001267550.2	NP_001254479.2:p.(Asn16932Ser)	NC_000002.11:g.179476161T>C	VUS	2 labs	b1e74b77ce
2:21260094 APOB T>C	2	21260094	21260094	T	C	APOB	c.571A>G	NM_000384.3	NP_000375.3:p.(Thr191Ala)	NC_000002.11:g.21260094T>C	(Likely) benign	2 labs	b1e976f017
14:64497894 SYNE2 C>A	14	64497894	64497894	C	A	SYNE2	c.7040C>A	NM_182914.3	NP_878918.2:p.(Ala2347Glu)	NC_000014.8:g.64497894C>A	(Likely) benign	2 labs	b1fc132b35
2:179440687 TTN A>G	2	179440687	179440687	A	G	TTN	c.70172T>C	NM_001267550.2	NP_001254479.2:p.(Ile23391Thr)	NC_000002.11:g.179440687A>G	VUS	2 labs	b21b0f451c
7:150642609 KCNH2 TAC>T	7	150642609	150642616	TAC	T	KCNH2	c.3331-9_3331-8del	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150642615_150642616del	(Likely) benign	2 labs	b2278188c6
21:35821759 KCNE1 G>C	21	35821759	35821759	G	C	KCNE1	c.174C>G	NM_001127670.4	NP_001121142.1:p.(Thr58=)	NC_000021.8:g.35821759G>C	(Likely) benign	3 labs	b22f19fe87
2:179453684 TTN GT>G	2	179453684	179453685	GT	G	TTN	c.62767del	NM_001267550.2	NP_001254479.2:p.(Thr20923LeufsTer3)	NC_000002.11:g.179453685del	(Likely) pathogenic	2 labs	b2aa80ae6b
6:152542548 SYNE1 A>G	6	152542548	152542548	A	G	SYNE1	c.21656+13T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152542548A>G	(Likely) benign	2 labs	b2b5c6495f
8:100403925 VPS13B G>A	8	100403925	100403925	G	A	VPS13B	c.3075G>A	NM_017890.5	NP_060360.3:p.(Thr1025=)	NC_000008.10:g.100403925G>A	(Likely) benign	2 labs	b2b8008542
16:66575772 TK2 G>A	16	66575772	66575772	G	A	TK2	c.84+10C>T	NM_001271934.2	NP_001258863.1:p.?	NC_000016.9:g.66575772G>A	(Likely) benign	3 labs	b2cd4868be
14:102467421 DYNC1H1 C>T	14	102467421	102467421	C	T	DYNC1H1	c.4185+20C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102467421C>T	(Likely) benign	2 labs	b2d0a9173d
6:41126429 TREM2 C>T	6	41126429	41126429	C	T	TREM2	c.572G>A	NM_001271821.2	NP_001258750.1:p.(Trp191Ter)	NC_000006.11:g.41126429C>T	(Likely) benign	2 labs	b2e286ceae
7:75933482 HSPB1 G>A	7	75933482	75933482	G	A	HSPB1	c.610G>A	NM_001540.5	NP_001531.1:p.(Ala204Thr)	NC_000007.13:g.75933482G>A	(Likely) benign	2 labs	b2fa112a43
1:19550066 EMC1 GGA>G	1	19550066	19550078	GGA	G	EMC1	c.2203-5_2203-4del	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19550077_19550078del	(Likely) benign	2 labs	b31ad6224d
14:76543038 IFT43 G>C	14	76543038	76543038	G	C	IFT43	c.310+4G>C	NM_052873.3	NP_443105.2:p.?	NC_000014.8:g.76543038G>C	(Likely) benign	3 labs	b32e1ce00b
21:43815481 TMPRSS3 G>A	21	43815481	43815481	G	A	TMPRSS3	c.46C>T	NM_024022.4	NP_076927.1:p.(Arg16Ter)	NC_000021.8:g.43815481G>A	(Likely) pathogenic	2 labs	b351dd471b
17:56770161 RAD51C T>G	17	56770161	56770161	T	G	RAD51C	c.145+12T>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56770161T>G	(Likely) benign	5 labs	b38d89788c
2:152524388 NEB T>C	2	152524388	152524388	T	C	NEB	c.4649A>G	NM_001271208.2	NP_001258137.2:p.(Lys1550Arg)	NC_000002.11:g.152524388T>C	(Likely) benign	4 labs	b3a92e71b0
X:110653328 DCX C>A	X	110653328	110653328	C	A	DCX	c.542G>T	NM_000555.3	NP_000546.2:p.(Gly181Val)	NC_000023.10:g.110653328C>A	(Likely) pathogenic	2 labs	b3bb8953fd
11:47359085 MYBPC3 C>T	11	47359085	47359085	C	T	MYBPC3	c.2459G>A	NM_000256.3	NP_000247.2:p.(Arg820Gln)	NC_000011.9:g.47359085C>T	(Likely) pathogenic	2 labs	b41ac47a42
9:133960948 LAMC3 G>A	9	133960948	133960948	G	A	LAMC3	c.4068G>A	NM_006059.4	NP_006050.3:p.(Ala1356=)	NC_000009.11:g.133960948G>A	(Likely) benign	2 labs	b43e7be732
14:23282374 SLC7A7 G>A	14	23282374	23282374	G	A	SLC7A7	c.234C>T	NM_001126106.4	NP_001119578.1:p.(Val78=)	NC_000014.8:g.23282374G>A	(Likely) benign	3 labs	b44f8bbdb8
7:117144429 CFTR T>C	7	117144429	117144429	T	C	CFTR	c.164+12T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117144429T>C	(Likely) benign	2 labs	b46260600f
12:132426291 PUS1 G>C	12	132426291	132426291	G	C	PUS1	c.999G>C	NM_025215.6	NP_079491.2:p.(Leu333=)	NC_000012.11:g.132426291G>C	(Likely) benign	3 labs	b47c9391f9
18:31319905 ASXL3 A>G	18	31319905	31319905	A	G	ASXL3	c.2537A>G	NM_030632.3	NP_085135.1:p.(Lys846Arg)	NC_000018.9:g.31319905A>G	(Likely) benign	2 labs	b4978288bf
11:46329489 CREB3L1 G>A	11	46329489	46329489	G	A	CREB3L1	c.454G>A	NM_052854.4	NP_443086.1:p.(Ala152Thr)	NC_000011.9:g.46329489G>A	(Likely) benign	2 labs	b4af839d76
20:32000520 SNTA1 G>C	20	32000520	32000520	G	C	SNTA1	c.770C>G	NM_003098.3	NP_003089.1:p.(Ala257Gly)	NC_000020.10:g.32000520G>C	(Likely) benign	3 labs	b4bc1c5f44
1:66036315 LEPR C>A	1	66036315	66036315	C	A	LEPR	c.200C>A	NM_002303.6	NP_002294.2:p.(Ala67Asp)	NC_000001.10:g.66036315C>A	VUS	2 labs	b4a51f7fdb
4:185612821 PRIMPOL T>C	4	185612821	185612821	T	C	PRIMPOL	c.1419T>C	NM_001345891.2	NP_001332820.1:p.(Cys473=)	NC_000004.11:g.185612821T>C	(Likely) benign	2 labs	b4d7e104af
14:102516867 DYNC1H1 C>T	14	102516867	102516867	C	T	DYNC1H1	c.13908C>T	NM_001376.5	NP_001367.2:p.(Tyr4636=)	NC_000014.8:g.102516867C>T	(Likely) benign	2 labs	b4ea4bb0a0
19:11354031 DOCK6 C>T	19	11354031	11354031	C	T	DOCK6	c.1289G>A	NM_020812.4	NP_065863.2:p.(Arg430His)	NC_000019.9:g.11354031C>T	(Likely) benign	3 labs	b4edc20e10
8:100523326 VPS13B G>A	8	100523326	100523326	G	A	VPS13B	c.4300-6G>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100523326G>A	(Likely) benign	2 labs	b4f9f6d537
12:980497 WNK1 A>G	12	980497	980497	A	G	WNK1	c.3445A>G	NM_001184985.2	NP_001171914.1:p.(Ile1149Val)	NC_000012.11:g.980497A>G	(Likely) benign	2 labs	b4fa568eee
11:32449618 WT1 C>G	11	32449618	32449618	C	G	WT1	c.785-14G>C	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32449618C>G	(Likely) benign	3 labs	b507d0df1a
2:215674240 BARD1 G>C	2	215674240	215674240	G	C	BARD1	c.54C>G	NM_000465.4	NP_000456.2:p.(Asn18Lys)	NC_000002.11:g.215674240G>C	VUS	2 labs	b51cab0495
X:133527518 PHF6 C>T	X	133527518	133527518	C	T	PHF6	c.241-13C>T	NM_032458.3	NP_115834.1:p.?	NC_000023.10:g.133527518C>T	(Likely) benign	2 labs	b5281161cb
13:31821222 B3GLCT TC>T	13	31821222	31821224	TC	T	B3GLCT	c.335del	NM_194318.4	NP_919299.3:p.(Pro112ArgfsTer8)	NC_000013.10:g.31821224del	(Likely) pathogenic	2 labs	b5642129ab
17:57679985 DHX40 A>G	17	57679985	57679985	A	G	DHX40	c.1901+8A>G	NM_024612.5	NP_078888.4:p.?	NC_000017.10:g.57679985A>G	(Likely) benign	2 labs	b5ea3076fb
2:179591856 TTN C>T	2	179591856	179591856	C	T	TTN	c.20236G>A	NM_001267550.2	NP_001254479.2:p.(Ala6746Thr)	NC_000002.11:g.179591856C>T	(Likely) benign	2 labs	b5ed24374d
6:137143920 PEX7 C>G	6	137143920	137143920	C	G	PEX7	c.117C>G	NM_000288.4	NP_000279.1:p.(His39Gln)	NC_000006.11:g.137143920C>G	VUS	2 labs	b601ce8db2
2:189957066 COL5A2 C>T	2	189957066	189957066	C	T	COL5A2	c.537G>A	NM_000393.5	NP_000384.2:p.(Pro179=)	NC_000002.11:g.189957066C>T	(Likely) benign	3 labs	b6316b0545
16:23647265 PALB2 C>CT	16	23647265	23647267	C	CT	PALB2	c.601dup	NM_024675.4	NP_078951.2:p.(Ser201LysfsTer3)	NC_000016.9:g.23647267dup	(Likely) pathogenic	4 labs	b62d19785e
2:179450028 TTN C>T	2	179450028	179450028	C	T	TTN	c.56739G>A	NM_133378.4	NP_596869.4:p.(Gly18913=)	NC_000002.11:g.179450028C>T	(Likely) benign	4 labs	b636a4f402
11:123513271 SCN3B C>T	11	123513271	123513271	C	T	SCN3B	c.328G>A	NM_018400.4	NP_060870.1:p.(Val110Ile)	NC_000011.9:g.123513271C>T	VUS	2 labs	b661f83b82
17:41243479 BRCA1 CTTGA>C	17	41243479	41243485	CTTGA	C	BRCA1	c.4065_4068del	NM_007294.4	NP_009225.1:p.(Asn1355LysfsTer10)	NC_000017.10:g.41243482_41243485del	(Likely) pathogenic	4 labs	b659f25541
16:2816519 SRRM2 G>A	16	2816519	2816519	G	A	SRRM2	c.5990G>A	NM_016333.4	NP_057417.3:p.(Arg1997His)	NC_000016.9:g.2816519G>A	(Likely) benign	2 labs	b6a8080296
2:1418210 TPO G>A	2	1418210	1418210	G	A	TPO	c.30G>A	NM_000547.6	NP_000538.3:p.(Thr10=)	NC_000002.11:g.1418210G>A	(Likely) benign	2 labs	b6beb6f6cc
2:109345582 RANBP2 T>A	2	109345582	109345582	T	A	RANBP2	c.73-6T>A	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109345582T>A	(Likely) benign	4 labs	b6c2bdb2e6
2:179600648 TTN C>T	2	179600648	179600648	C	T	TTN	c.14525G>A	NM_001267550.2	NP_001254479.2:p.(Arg4842Lys)	NC_000002.11:g.179600648C>T	(Likely) benign	2 labs	b6c7d7ff04
5:233698 SDHA G>A	5	233698	233698	G	A	SDHA	c.1002G>A	NM_004168.4	NP_004159.2:p.(Ala334=)	NC_000005.9:g.233698G>A	(Likely) benign	4 labs	b6cd4bc696
19:36399085 TYROBP G>A	19	36399085	36399085	G	A	TYROBP	c.46C>T	NM_003332.4	NP_003323.1:p.(Leu16=)	NC_000019.9:g.36399085G>A	(Likely) benign	2 labs	b6f59a3d00
X:153539290 TKTL1 A>G	X	153539290	153539290	A	G	TKTL1	c.454A>G	NM_012253.4	NP_036385.3:p.(Ile152Val)	NC_000023.10:g.153539290A>G	(Likely) benign	2 labs	b72e9f2345
10:71144598 HK1 T>C	10	71144598	71144598	T	C	HK1	c.1871T>C	NM_001322365.2	NP_001309294.1:p.(Met624Thr)	NC_000010.10:g.71144598T>C	VUS	2 labs	b747da1e20
22:51063987 ARSA G>C	22	51063987	51063987	G	C	ARSA	c.1210+20C>G	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063987G>C	(Likely) benign	3 labs	b74f4cb0d9
1:66095962 LEPR A>C	1	66095962	66095962	A	C	LEPR	c.2751A>C	NM_001198687.2	NP_001185616.1:p.(Gly917=)	NC_000001.10:g.66095962A>C	(Likely) benign	2 labs	b753b14678
1:3329263 PRDM16 C>T	1	3329263	3329263	C	T	PRDM16	c.2502C>T	NM_022114.4	NP_071397.3:p.(Gly834=)	NC_000001.10:g.3329263C>T	(Likely) benign	3 labs	b7776acafd
1:11082613 TARDBP A>G	1	11082613	11082613	A	G	TARDBP	c.1147A>G	NM_007375.4	NP_031401.1:p.(Ile383Val)	NC_000001.10:g.11082613A>G	(Likely) pathogenic	3 labs	b77b2ada6b
17:29559087 NF1 TCAGAG>T	17	29559087	29559092	TCAGAG	T	NF1	c.3198-3_3199del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559088_29559092del	(Likely) benign	2 labs	b781caf432
3:49169106 LAMB2 G>A	3	49169106	49169106	G	A	LAMB2	c.510C>T	NM_002292.4	NP_002283.3:p.(Arg170=)	NC_000003.11:g.49169106G>A	(Likely) benign	4 labs	b79be61cbb
16:2136791 TSC2 C>T	16	2136791	2136791	C	T	TSC2	c.4908C>T	NM_000548.5	NP_000539.2:p.(Asp1636=)	NC_000016.9:g.2136791C>T	(Likely) benign	2 labs	b7b6178b16
6:32030129 TNXB C>T	6	32030129	32030129	C	T	TNXB	c.6973G>A	NM_019105.8	NP_061978.6:p.(Val2325Ile)	NC_000006.11:g.32030129C>T	(Likely) benign	2 labs	b7b7b26168
1:156105081 LMNA A>G	1	156105081	156105081	A	G	LMNA	c.914A>G	NM_170707.4	NP_733821.1:p.(Gln305Arg)	NC_000001.10:g.156105081A>G	VUS	2 labs	b808a524c6
1:237778084 RYR2 G>A	1	237778084	237778084	G	A	RYR2	c.5656G>A	NM_001035.3	NP_001026.2:p.(Gly1886Ser)	NC_000001.10:g.237778084G>A	(Likely) benign	2 labs	b815b04b69
12:22068591 ABCC9 C>T	12	22068591	22068591	C	T	ABCC9	c.816+11G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22068591C>T	(Likely) benign	2 labs	b82d8788d7
19:45855493 ERCC2 G>A	19	45855493	45855493	G	A	ERCC2	c.2164C>T	NM_000400.4	NP_000391.1:p.(Arg722Trp)	NC_000019.9:g.45855493G>A	(Likely) pathogenic	3 labs	b83785895a
1:22157795 HSPG2 G>A	1	22157795	22157795	G	A	HSPG2	c.11478C>T	NM_001291860.2	NP_001278789.1:p.(Ile3826=)	NC_000001.10:g.22157795G>A	(Likely) benign	2 labs	b85101a3d3
2:69553375 GFPT1 GA>G	2	69553375	69553388	GA	G	GFPT1	c.2056-11del	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553388del	(Likely) benign	2 labs	b8552c3369
7:128490926 FLNC C>T	7	128490926	128490926	C	T	FLNC	c.5468C>T	NM_001458.5	NP_001449.3:p.(Thr1823Met)	NC_000007.13:g.128490926C>T	VUS	4 labs	b85932e80c
3:38835457 SCN10A G>A	3	38835457	38835457	G	A	SCN10A	c.45C>T	NM_006514.4	NP_006505.4:p.(Arg15=)	NC_000003.11:g.38835457G>A	(Likely) benign	2 labs	b86488d756
1:201338975 TNNT2 TG>T	1	201338975	201338976	TG	T	TNNT2	c.68-1621del	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201338976del	(Likely) benign	2 labs	b8805b5c0d
7:112102071 IFRD1 C>G	7	112102071	112102071	C	G	IFRD1	c.634C>G	NM_001007245.3	NP_001007246.1:p.(Leu212Val)	NC_000007.13:g.112102071C>G	(Likely) benign	2 labs	b89d1c774b
2:179485919 TTN G>A	2	179485919	179485919	G	A	TTN	c.45526C>T	NM_001267550.2	NP_001254479.2:p.(Leu15176=)	NC_000002.11:g.179485919G>A	(Likely) benign	4 labs	b8b8121b44
1:17326767 ATP13A2 C>T	1	17326767	17326767	C	T	ATP13A2	c.881G>A	NM_022089.4	NP_071372.1:p.(Arg294Gln)	NC_000001.10:g.17326767C>T	(Likely) benign	3 labs	b8bccb041f
14:51062357 ATL1 G>A	14	51062357	51062357	G	A	ATL1	c.630+7G>A	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51062357G>A	(Likely) benign	2 labs	b8c87370c1
17:10551919 MYH3 G>C	17	10551919	10551919	G	C	MYH3	c.690C>G	NM_002470.4	NP_002461.2:p.(Ala230=)	NC_000017.10:g.10551919G>C	(Likely) benign	3 labs	b8c929372b
11:2683273 KCNQ1 A>G	11	2683273	2683273	A	G	KCNQ1	c.1476A>G	NM_000218.3	NP_000209.2:p.(Glu492=)	NC_000011.9:g.2683273A>G	(Likely) benign	3 labs	b8cb1504f2
2:169869901 ABCB11 A>G	2	169869901	169869901	A	G	ABCB11	c.270T>C	NM_003742.4	NP_003733.2:p.(Phe90=)	NC_000002.11:g.169869901A>G	(Likely) benign	2 labs	b8d41d7a3d
1:237811766 RYR2 C>T	1	237811766	237811766	C	T	RYR2	c.7365C>T	NM_001035.3	NP_001026.2:p.(Asp2455=)	NC_000001.10:g.237811766C>T	(Likely) benign	6 labs	b8d9b59a2b
1:160261924 COPA G>A	1	160261924	160261924	G	A	COPA	c.3052C>T	NM_001098398.2	NP_001091868.1:p.(Arg1018Trp)	NC_000001.10:g.160261924G>A	VUS	2 labs	b8da8b3b4d
16:2121617 TSC2 T>C	16	2121617	2121617	T	C	TSC2	c.1946T>C	NM_000548.5	NP_000539.2:p.(Met649Thr)	NC_000016.9:g.2121617T>C	(Likely) benign	2 labs	b923fd2f51
3:11068037 SLC6A1 C>T	3	11068037	11068037	C	T	SLC6A1	c.1070C>T	NM_003042.4	NP_003033.3:p.(Ala357Val)	NC_000003.11:g.11068037C>T	(Likely) pathogenic	2 labs	b92ba8e66f
4:88537072 DSPP TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC>T	4	88537072	88537131	TAGCAGTGACAGCAGCAATAGCAGTGACAGCAGCGATAGCAGCGACAGCAGCGAC	T	DSPP	c.3264_3317del	NM_014208.3	NP_055023.2:p.(Asn1092_Ser1109del)	NC_000004.11:g.88537078_88537131del	(Likely) benign	2 labs	b980405a7a
15:42681057 CAPN3 G>A	15	42681057	42681057	G	A	CAPN3	c.633-69G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42681057G>A	(Likely) benign	2 labs	b99cdde05b
3:38740051 SCN10A G>A	3	38740051	38740051	G	A	SCN10A	c.4660C>T	NM_006514.4	NP_006505.4:p.(Leu1554=)	NC_000003.11:g.38740051G>A	(Likely) benign	2 labs	b9a753a42c
5:138163242 CTNNA1 G>A	5	138163242	138163242	G	A	CTNNA1	c.897G>A	NM_001903.5	NP_001894.2:p.(Glu299=)	NC_000005.9:g.138163242G>A	(Likely) benign	2 labs	b9b5cff71e
3:33165919 CRTAP T>C	3	33165919	33165919	T	C	CRTAP	c.641T>C	NM_006371.5	NP_006362.1:p.(Val214Ala)	NC_000003.11:g.33165919T>C	(Likely) benign	2 labs	b9bc4f2a3c
1:185985250 HMCN1 A>T	1	185985250	185985250	A	T	HMCN1	c.5070A>T	NM_031935.3	NP_114141.2:p.(Ile1690=)	NC_000001.10:g.185985250A>T	(Likely) benign	2 labs	b9da301a69
11:68183617 LRP5 G>A	11	68183617	68183617	G	A	LRP5	c.2828-179G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68183617G>A	(Likely) benign	2 labs	b9e189faf5
12:992229 WNK1 C>T	12	992229	992229	C	T	WNK1	c.4269+4C>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.992229C>T	(Likely) benign	2 labs	b9f1fdcfa4
1:216166439 USH2A C>A	1	216166439	216166439	C	A	USH2A	c.6728G>T	NM_206933.4	NP_996816.3:p.(Gly2243Val)	NC_000001.10:g.216166439C>A	VUS	2 labs	b9f515c716
1:12049390 MFN2 C>T	1	12049390	12049390	C	T	MFN2	c.165C>T	NM_014874.4	NP_055689.1:p.(Thr55=)	NC_000001.10:g.12049390C>T	(Likely) benign	2 labs	ba130be1cc
16:89349290 ANKRD11 C>T	16	89349290	89349290	C	T	ANKRD11	c.3660G>A	NM_001256182.2	NP_001243111.1:p.(Arg1220=)	NC_000016.9:g.89349290C>T	(Likely) benign	3 labs	ba18670ede
2:238275681 COL6A3 C>T	2	238275681	238275681	C	T	COL6A3	c.5149G>A	NM_004369.4	NP_004360.2:p.(Ala1717Thr)	NC_000002.11:g.238275681C>T	VUS	2 labs	ba518c926e
21:47421900 COL6A1 G>A	21	47421900	47421900	G	A	COL6A1	c.1982G>A	NM_001848.3	NP_001839.2:p.(Gly661Asp)	NC_000021.8:g.47421900G>A	VUS	2 labs	ba5bda496b
8:133900704 TG A>C	8	133900704	133900704	A	C	TG	c.2652A>C	NM_003235.5	NP_003226.4:p.(Ser884=)	NC_000008.10:g.133900704A>C	(Likely) benign	2 labs	ba9f706fcf
6:64431666 EYS TTTACTA>T	6	64431666	64431672	TTTACTA	T	EYS	c.8318_8323del	NM_001292009.2	NP_001278938.1:p.(Leu2773_Asn2775delinsTyr)	NC_000006.11:g.64431667_64431672del	VUS	2 labs	baab212d89
19:1226529 STK11 A>G	19	1226529	1226529	A	G	STK11	c.1185A>G	NM_000455.5	NP_000446.1:p.(Thr395=)	NC_000019.9:g.1226529A>G	(Likely) benign	3 labs	baad1b204c
12:111357011 MYL2 G>A	12	111357011	111357011	G	A	MYL2	c.4-14C>T	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111357011G>A	(Likely) benign	4 labs	bae62f9028
10:68526088 CTNNA3 A>G	10	68526088	68526088	A	G	CTNNA3	c.1215T>C	NM_013266.4	NP_037398.2:p.(Asn405=)	NC_000010.10:g.68526088A>G	(Likely) benign	2 labs	bb26947e38
2:179474482 TTN C>T	2	179474482	179474482	C	T	TTN	c.51668G>A	NM_001267550.2	NP_001254479.2:p.(Arg17223Gln)	NC_000002.11:g.179474482C>T	VUS	2 labs	bb2ca15589
2:179588431 TTN G>C	2	179588431	179588431	G	C	TTN	c.17672-8C>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179588431G>C	VUS	2 labs	bb43eb3c99
11:47364270 MYBPC3 G>A	11	47364270	47364270	G	A	MYBPC3	c.1483C>T	NM_000256.3	NP_000247.2:p.(Arg495Trp)	NC_000011.9:g.47364270G>A	(Likely) pathogenic	2 labs	bb449e9637
2:38301888 CYP1B1 C>A	2	38301888	38301888	C	A	CYP1B1	c.644G>T	NM_000104.4	NP_000095.2:p.(Ser215Ile)	NC_000002.11:g.38301888C>A	VUS	2 labs	bb503b4826
6:15593319 DTNBP1 G>GA	6	15593319	15593333	G	GA	DTNBP1	c.489-8dup	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593333dup	(Likely) benign	4 labs	bb6c82fb51
5:133944043 SAR1B AT>A	5	133944043	133944059	AT	A	SAR1B	c.480+18del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944059del	(Likely) benign	2 labs	bb83cdbf08
21:44485590 CBS C>T	21	44485590	44485590	C	T	CBS	c.258G>A	NM_001321072.1	NP_001308001.1:p.(Thr86=)	NC_000021.8:g.44485590C>T	(Likely) benign	2 labs	bb92862784
11:66475639 SPTBN2 G>A	11	66475639	66475639	G	A	SPTBN2	c.1323C>T	NM_006946.4	NP_008877.2:p.(Leu441=)	NC_000011.9:g.66475639G>A	(Likely) benign	3 labs	bba340e447
2:189859434 COL3A1 C>CT	2	189859434	189859446	C	CT	COL3A1	c.1348-4dup	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859446dup	(Likely) benign	2 labs	bbd0303a10
13:32913178 BRCA2 A>G	13	32913178	32913178	A	G	BRCA2	c.4686A>G	NM_000059.4	NP_000050.3:p.(Gln1562=)	NC_000013.10:g.32913178A>G	(Likely) benign	4 labs	bc152eb4c4
19:40902759 PRX T>C	19	40902759	40902759	T	C	PRX	c.1500A>G	NM_181882.3	NP_870998.2:p.(Ser500=)	NC_000019.9:g.40902759T>C	(Likely) benign	2 labs	bc22b25d46
1:94487285 ABCA4 AAC>A	1	94487285	94487288	AAC	A	ABCA4	c.4774-17_4774-16del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94487287_94487288del	(Likely) benign	2 labs	bc303a6045
13:32912331 BRCA2 A>T	13	32912331	32912331	A	T	BRCA2	c.3839A>T	NM_000059.4	NP_000050.3:p.(Asp1280Val)	NC_000013.10:g.32912331A>T	(Likely) benign	2 labs	bc52ea5006
1:40766943 COL9A2 G>T	1	40766943	40766943	G	T	COL9A2	c.1981C>A	NM_001852.4	NP_001843.1:p.(Pro661Thr)	NC_000001.10:g.40766943G>T	(Likely) benign	2 labs	bc5553c34d
21:47552191 COL6A2 G>A	21	47552191	47552191	G	A	COL6A2	c.2785G>A	NM_001849.4	NP_001840.3:p.(Val929Met)	NC_000021.8:g.47552191G>A	VUS	2 labs	bc5db0cc27
2:179603847 TTN AT>A	2	179603847	179603851	AT	A	TTN	c.14092+20del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179603851del	(Likely) benign	2 labs	bc620dc00c
17:10318636 MYH8 A>G	17	10318636	10318636	A	G	MYH8	c.714T>C	NM_002472.3	NP_002463.2:p.(Thr238=)	NC_000017.10:g.10318636A>G	(Likely) benign	2 labs	bc8ab4cd60
2:1653401 PXDN G>A	2	1653401	1653401	G	A	PXDN	c.2151C>T	NM_012293.3	NP_036425.1:p.(Ile717=)	NC_000002.11:g.1653401G>A	(Likely) benign	2 labs	bca75df116
15:85401284 ALPK3 C>T	15	85401284	85401284	C	T	ALPK3	c.3315C>T	NM_020778.5	NP_065829.4:p.(Ala1105=)	NC_000015.9:g.85401284C>T	(Likely) benign	2 labs	bcabf25714
11:1780205 CTSD A>G	11	1780205	1780205	A	G	CTSD	c.465T>C	NM_001909.5	NP_001900.1:p.(Thr155=)	NC_000011.9:g.1780205A>G	(Likely) benign	2 labs	bcb5032f28
7:150655596 KCNH2 G>A	7	150655596	150655596	G	A	KCNH2	c.473-6C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150655596G>A	(Likely) benign	3 labs	bd05fca54c
19:16606630 CALR3 T>C	19	16606630	16606630	T	C	CALR3	c.125A>G	NM_145046.5	NP_659483.2:p.(Asn42Ser)	NC_000019.9:g.16606630T>C	(Likely) benign	4 labs	bd0a77ac48
6:56394819 DST T>C	6	56394819	56394819	T	C	DST	c.10864A>G	NM_001144769.5	NP_001138241.1:p.(Ile3622Val)	NC_000006.11:g.56394819T>C	VUS	2 labs	bd51e2489a
14:105239355 AKT1 G>A	14	105239355	105239355	G	A	AKT1	c.1032C>T	NM_005163.2	NP_005154.2:p.(Cys344=)	NC_000014.8:g.105239355G>A	(Likely) benign	3 labs	bd5260aeeb
15:85360319 ALPK3 C>T	15	85360319	85360319	C	T	ALPK3				NC_000015.9:g.85360319C>T	(Likely) benign	2 labs	bd54e57076
2:179575613 TTN G>A	2	179575613	179575613	G	A	TTN	c.28211C>T	NM_001267550.2	NP_001254479.2:p.(Ala9404Val)	NC_000002.11:g.179575613G>A	VUS	2 labs	bd672eafb6
2:121748118 GLI2 G>A	2	121748118	121748118	G	A	GLI2	c.4628G>A	NM_005270.5	NP_005261.2:p.(Arg1543His)	NC_000002.11:g.121748118G>A	(Likely) benign	2 labs	bd6d936fd4
X:41469235 CASK C>T	X	41469235	41469235	C	T	CASK	c.1077G>A	NM_001367721.1	NP_001354650.1:p.(Ala359=)	NC_000023.10:g.41469235C>T	(Likely) benign	2 labs	bd6e66b68c
10:89720633 PTEN C>T	10	89720633	89720633	C	T	PTEN	c.802-18C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720633C>T	(Likely) benign	2 labs	bd897d7e1c
15:85360818 ALPK3 C>T	15	85360818	85360818	C	T	ALPK3	c.135C>T	NM_020778.5	NP_065829.4:p.(Pro45=)	NC_000015.9:g.85360818C>T	(Likely) benign	2 labs	bda2a06254
2:179484735 TTN C>T	2	179484735	179484735	C	T	TTN	c.46409G>A	NM_001267550.2	NP_001254479.2:p.(Arg15470His)	NC_000002.11:g.179484735C>T	VUS	2 labs	bda5af5939
15:89860786 POLG A>C	15	89860786	89860786	A	C	POLG	c.3483-19T>G	NM_001126131.2	NP_001119603.1:p.?	NC_000015.9:g.89860786A>C	(Likely) benign	2 labs	bda8177622
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer33)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	2 labs	bdd9b5fdbb
5:125912915 ALDH7A1 A>C	5	125912915	125912915	A	C	ALDH7A1	c.518-12T>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125912915A>C	(Likely) benign	2 labs	bdf51f4ee3
19:12921186 RNASEH2A T>C	19	12921186	12921186	T	C	RNASEH2A	c.605T>C	NM_006397.3	NP_006388.2:p.(Leu202Ser)	NC_000019.9:g.12921186T>C	(Likely) benign	3 labs	be06eb1ce2
8:61654300 CHD7 G>A	8	61654300	61654300	G	A	CHD7	c.309G>A	NM_017780.4	NP_060250.2:p.(Ser103=)	NC_000008.10:g.61654300G>A	(Likely) benign	4 labs	be11df58f8
3:12626019 RAF1 G>A	3	12626019	12626019	G	A	RAF1	c.1941C>T	NM_002880.4	NP_002871.1:p.(Val647=)	NC_000003.11:g.12626019G>A	(Likely) benign	2 labs	be126ea8f0
19:11558340 PRKCSH A>AGAG	19	11558340	11558372	A	AGAG	PRKCSH	c.966_968dup	NM_002743.3	NP_002734.2:p.(Glu325dup)	NC_000019.9:g.11558370_11558372dup	(Likely) benign	3 labs	be20f2f22e
2:238419622 MLPH G>A	2	238419622	238419622	G	A	MLPH	c.333-10G>A	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238419622G>A	(Likely) benign	2 labs	be3c2a7348
2:179468729 TTN C>T	2	179468729	179468729	C	T	TTN	c.54685G>A	NM_001267550.2	NP_001254479.2:p.(Val18229Met)	NC_000002.11:g.179468729C>T	VUS	2 labs	be2a78edcb
1:92944314 GFI1 C>CAGAG	1	92944314	92944351	C	CAGAG	GFI1	c.925-8_925-5dup	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944348_92944351dup	(Likely) benign	4 labs	be4aaeeef2
12:49431413 KMT2D G>A	12	49431413	49431413	G	A	KMT2D	c.9726C>T	NM_003482.4	NP_003473.3:p.(Ala3242=)	NC_000012.11:g.49431413G>A	(Likely) benign	2 labs	be78aaea78
9:139408952 NOTCH1 C>T	9	139408952	139408952	C	T	NOTCH1	c.2207+10G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139408952C>T	(Likely) benign	4 labs	be79a25781
19:1226538 STK11 G>A	19	1226538	1226538	G	A	STK11	c.1194G>A	NM_000455.5	NP_000446.1:p.(Ala398=)	NC_000019.9:g.1226538G>A	(Likely) benign	2 labs	be805142ce
2:179422944 TTN A>C	2	179422944	179422944	A	C	TTN	c.87137T>G	NM_001267550.2	NP_001254479.2:p.(Met29046Arg)	NC_000002.11:g.179422944A>C	(Likely) benign	2 labs	bebdf846e9
2:167138320 SCN9A TA>T	2	167138320	167138330	TA	T	SCN9A	c.1942-3del	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138330del	(Likely) benign	2 labs	bec3f67fd5
19:50796905 MYH14 G>A	19	50796905	50796905	G	A	MYH14	c.5430G>A	NM_001145809.2	NP_001139281.1:p.(Ser1810=)	NC_000019.9:g.50796905G>A	(Likely) benign	2 labs	bec8cb49bf
14:23893116 MYH7 C>T	14	23893116	23893116	C	T	MYH7	c.2922G>A	NM_000257.4	NP_000248.2:p.(Lys974=)	NC_000014.8:g.23893116C>T	(Likely) benign	2 labs	beeb54135d
1:2235378 SKI C>T	1	2235378	2235378	C	T	SKI	c.1311C>T	NM_003036.4	NP_003027.1:p.(Ala437=)	NC_000001.10:g.2235378C>T	(Likely) benign	2 labs	bf17577786
6:7581207 DSP AGGAAGAGCT>A	6	7581207	7581221	AGGAAGAGCT	A	DSP	c.4790_4798del	NM_004415.4	NP_004406.2:p.(Glu1597_Glu1599del)	NC_000006.11:g.7581213_7581221del	VUS	2 labs	bf556a7639
13:32911898 BRCA2 A>G	13	32911898	32911898	A	G	BRCA2	c.3406A>G	NM_000059.4	NP_000050.3:p.(Ile1136Val)	NC_000013.10:g.32911898A>G	(Likely) benign	2 labs	bf6c7b61b8
15:35083508 ACTC1 TCACACACACACACA>T	15	35083508	35083554	TCACACACACACACA	T	ACTC1	c.809-26_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083541_35083554del	(Likely) benign	2 labs	bfe1328664
11:47356621 MYBPC3 C>T	11	47356621	47356621	C	T	MYBPC3	c.2877G>A	NM_000256.3	NP_000247.2:p.(Thr959=)	NC_000011.9:g.47356621C>T	VUS	3 labs	bfe774a1c7
5:37061090 NIPBL G>C	5	37061090	37061090	G	C	NIPBL	c.7830G>C	NM_133433.4	NP_597677.2:p.(Val2610=)	NC_000005.9:g.37061090G>C	(Likely) benign	4 labs	bff26422fa
11:65635437 EFEMP2 G>T	11	65635437	65635437	G	T	EFEMP2	c.1065C>A	NM_016938.5	NP_058634.4:p.(Ser355Arg)	NC_000011.9:g.65635437G>T	VUS	3 labs	c00c4a2a49
6:32063600 TNXB T>C	6	32063600	32063600	T	C	TNXB	c.2030A>G	NM_019105.8	NP_061978.6:p.(Asp677Gly)	NC_000006.11:g.32063600T>C	(Likely) benign	3 labs	c00c832dce
16:15815454 MYH11 G>A	16	15815454	15815454	G	A	MYH11	c.4424C>T	NM_001040113.2	NP_001035202.1:p.(Ala1475Val)	NC_000016.9:g.15815454G>A	VUS	4 labs	c051894735
1:216424411 USH2A G>A	1	216424411	216424411	G	A	USH2A	c.2001C>T	NM_206933.4	NP_996816.3:p.(His667=)	NC_000001.10:g.216424411G>A	(Likely) benign	2 labs	c051a100eb
X:55514924 USP51 GATC>G	X	55514924	55514927	GATC	G	USP51	c.446_448del	NM_201286.4	NP_958443.1:p.(Gly149_Ser150delinsAla)	NC_000023.10:g.55514925_55514927del	(Likely) benign	2 labs	c051f554e3
2:179543217 TTN C>T	2	179543217	179543217	C	T	TTN	c.33834G>A	NM_001267550.2	NP_001254479.2:p.(Glu11278=)	NC_000002.11:g.179543217C>T	(Likely) benign	2 labs	c05a10c3de
2:109380158 RANBP2 C>T	2	109380158	109380158	C	T	RANBP2	c.3163C>T	NM_006267.5	NP_006258.3:p.(Pro1055Ser)	NC_000002.11:g.109380158C>T	(Likely) benign	4 labs	c07108da1a
5:180030221 FLT4 C>T	5	180030221	180030221	C	T	FLT4	c.4063G>A	NM_182925.5	NP_891555.2:p.(Val1355Met)	NC_000005.9:g.180030221C>T	(Likely) benign	2 labs	c091d0de28
10:43610129 RET G>A	10	43610129	43610129	G	A	RET	c.2081G>A	NM_020975.6	NP_066124.1:p.(Arg694Gln)	NC_000010.10:g.43610129G>A	VUS	2 labs	c0db152d8d
2:1546189 TPO G>A	2	1546189	1546189	G	A	TPO	c.2749-4G>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1546189G>A	(Likely) benign	2 labs	c0e5b7ae52
7:150672034 KCNH2 G>C	7	150672034	150672034	G	C	KCNH2	c.77-5C>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150672034G>C	(Likely) benign	2 labs	c0e97a0dbb
22:20780024 SCARF2 G>GC	22	20780024	20780025	G	GC	SCARF2	c.2254_2256=	NM_153334.7	NP_699165.3:p.(Gly752=)	NC_000022.10:g.20780025dup	(Likely) benign	2 labs	c0de850986
6:7542230 DSP T>G	6	7542230	7542230	T	G	DSP	c.82T>G	NM_004415.4	NP_004406.2:p.(Tyr28Asp)	NC_000006.11:g.7542230T>G	VUS	4 labs	c118950429
14:23900904 MYH7 G>A	14	23900904	23900904	G	A	MYH7	c.640-18C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900904G>A	(Likely) benign	3 labs	c118dd09a5
18:43460123 EPG5 C>A	18	43460123	43460123	C	A	EPG5	c.5584G>T	NM_020964.3	NP_066015.2:p.(Ala1862Ser)	NC_000018.9:g.43460123C>A	(Likely) benign	2 labs	c14ac13fa9
3:38607917 SCN5A C>T	3	38607917	38607917	C	T	SCN5A	c.3823G>A	NM_198056.3	NP_932173.1:p.(Asp1275Asn)	NC_000003.11:g.38607917C>T	(Likely) pathogenic	2 labs	c165f92ab1
5:138269616 CTNNA1 C>T	5	138269616	138269616	C	T	CTNNA1	c.2559C>T	NM_001903.5	NP_001894.2:p.(Asn853=)	NC_000005.9:g.138269616C>T	(Likely) benign	2 labs	c18122b531
22:21083611 PI4KA G>A	22	21083611	21083611	G	A	PI4KA	c.4672C>T	NM_058004.4	NP_477352.3:p.(Leu1558=)	NC_000022.10:g.21083611G>A	(Likely) benign	2 labs	c1b61342d4
10:104590547 CYP17A1 G>GGGAT	10	104590547	104590552	G	GGGAT	CYP17A1	c.1435_1438dup	NM_000102.4	NP_000093.1:p.(Pro480HisfsTer27)	NC_000010.10:g.104590549_104590552dup	(Likely) pathogenic	4 labs	c1bbe73d92
9:133542172 PRDM12 A>G	9	133542172	133542172	A	G	PRDM12	c.401A>G	NM_021619.3	NP_067632.2:p.(Asn134Ser)	NC_000009.11:g.133542172A>G	VUS	2 labs	c1cbc1b9d5
7:128482839 FLNC T>C	7	128482839	128482839	T	C	FLNC	c.2390-9T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482839T>C	(Likely) benign	5 labs	c1e77eba2a
4:981673 IDUA G>A	4	981673	981673	G	A	IDUA	c.235G>A	NM_000203.5	NP_000194.2:p.(Ala79Thr)	NC_000004.11:g.981673G>A	(Likely) benign	2 labs	c21051e8b4
7:30651875 GARS1 T>G	7	30651875	30651875	T	G	GARS1	c.1031+14T>G	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30651875T>G	(Likely) benign	2 labs	c23d31ebfd
3:37083823 MLH1 G>A	3	37083823	37083823	G	A	MLH1	c.1731+1G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37083823G>A	(Likely) pathogenic	2 labs	c242a203d0
4:114186067 ANK2 A>G	4	114186067	114186067	A	G	ANK2	c.1401A>G	NM_001148.6	NP_001139.3:p.(Ala467=)	NC_000004.11:g.114186067A>G	(Likely) benign	4 labs	c244241c87
1:180243524 LHX4 A>G	1	180243524	180243524	A	G	LHX4	c.983A>G	NM_033343.4	NP_203129.1:p.(Asn328Ser)	NC_000001.10:g.180243524A>G	(Likely) benign	2 labs	c2c2435823
15:45361216 SORD CG>C	15	45361216	45361221	CG	C	SORD	c.757del	NM_003104.6	NP_003095.2:p.(Ala253GlnfsTer27)	NC_000015.9:g.45361221del	(Likely) pathogenic	3 labs	c2d7e84feb
6:32803501 TAP2 G>T	6	32803501	32803501	G	T	TAP2	c.658C>A	NM_001290043.2	NP_001276972.1:p.(Arg220=)	NC_000006.11:g.32803501G>T	(Likely) benign	2 labs	c2e3b23181
16:2138461 TSC2 C>T	16	2138461	2138461	C	T	TSC2	c.5274C>T	NM_000548.5	NP_000539.2:p.(Ala1758=)	NC_000016.9:g.2138461C>T	(Likely) benign	2 labs	c2f71d8f23
2:179595332 TTN C>T	2	179595332	179595332	C	T	TTN	c.17928G>A	NM_001267550.2	NP_001254479.2:p.(Leu5976=)	NC_000002.11:g.179595332C>T	(Likely) benign	2 labs	c2fdda1b2a
7:128477203 FLNC C>T	7	128477203	128477203	C	T	FLNC	c.602-11C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477203C>T	(Likely) benign	3 labs	c31bd4f8bf
9:139396944 NOTCH1 C>T	9	139396944	139396944	C	T	NOTCH1	c.5168-4G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139396944C>T	(Likely) benign	2 labs	c3445fb84a
1:236881196 ACTN2 C>T	1	236881196	236881196	C	T	ACTN2	c.165C>T	NM_001103.4	NP_001094.1:p.(Ala55=)	NC_000001.10:g.236881196C>T	(Likely) benign	4 labs	c34867d49d
1:92944314 GFI1 CAG>C	1	92944314	92944351	CAG	C	GFI1	c.925-6_925-5del	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944350_92944351del	(Likely) benign	4 labs	c34d62f7b7
2:179451290 TTN A>G	2	179451290	179451290	A	G	TTN	c.64338T>C	NM_001267550.2	NP_001254479.2:p.(Ala21446=)	NC_000002.11:g.179451290A>G	(Likely) benign	4 labs	c351438e29
4:15560885 CC2D2A G>GA	4	15560885	15560890	G	GA	CC2D2A	c.2922+10dup	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15560890dup	(Likely) benign	3 labs	c35e8a391f
1:2235378 SKI C>G	1	2235378	2235378	C	G	SKI	c.1311C>G	NM_003036.4	NP_003027.1:p.(Ala437=)	NC_000001.10:g.2235378C>G	(Likely) benign	2 labs	c392cabbca
15:72668305 HEXA G>A	15	72668305	72668305	G	A	HEXA	c.9C>T	NM_000520.6	NP_000511.2:p.(Ser3=)	NC_000015.9:g.72668305G>A	(Likely) benign	2 labs	c39fe39b0c
10:69299291 CTNNA3 A>G	10	69299291	69299291	A	G	CTNNA3	c.429T>C	NM_013266.4	NP_037398.2:p.(Asp143=)	NC_000010.10:g.69299291A>G	(Likely) benign	3 labs	c3a2992745
3:9792107 OGG1 G>A	3	9792107	9792107	G	A	OGG1	c.137G>A	NM_016828.3	NP_058437.1:p.(Arg46Gln)	NC_000003.11:g.9792107G>A	VUS	2 labs	c3bb82b9fd
16:16267221 ABCC6 C>G	16	16267221	16267221	C	G	ABCC6	c.2707G>C	NM_001171.6	NP_001162.5:p.(Glu903Gln)	NC_000016.9:g.16267221C>G	(Likely) benign	2 labs	c3f690e26a
17:6371557 PITPNM3 C>G	17	6371557	6371557	C	G	PITPNM3	c.1878G>C	NM_031220.4	NP_112497.2:p.(Gln626His)	NC_000017.10:g.6371557C>G	(Likely) benign	2 labs	c3fe19a24d
3:38592012 SCN5A C>A	3	38592012	38592012	C	A	SCN5A	c.5851G>T	NM_001099404.2	NP_001092874.1:p.(Val1951Leu)	NC_000003.11:g.38592012C>A	(Likely) benign	4 labs	c40dfb1a6f
3:184046470 EIF4G1 C>T	3	184046470	184046470	C	T	EIF4G1	c.4008C>T	NM_182917.4	NP_886553.3:p.(His1336=)	NC_000003.11:g.184046470C>T	(Likely) benign	2 labs	c4195bde8d
17:33428259 RAD51D G>A	17	33428259	33428259	G	A	RAD51D	c.864C>T	NM_002878.4	NP_002869.3:p.(Gly288=)	NC_000017.10:g.33428259G>A	(Likely) benign	3 labs	c422411851
3:38908913 SCN11A C>T	3	38908913	38908913	C	T	SCN11A	c.3850G>A	NM_001349253.2	NP_001336182.1:p.(Gly1284Ser)	NC_000003.11:g.38908913C>T	(Likely) benign	2 labs	c44f4084ad
6:129777477 LAMA2 A>C	6	129777477	129777477	A	C	LAMA2	c.6708-3A>C	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129777477A>C	(Likely) benign	3 labs	c4a1436539
2:215593454 BARD1 C>T	2	215593454	215593454	C	T	BARD1	c.2280G>A	NM_000465.4	NP_000456.2:p.(Ser760=)	NC_000002.11:g.215593454C>T	(Likely) benign	2 labs	c4a3f15a6f
5:231042 SDHA C>T	5	231042	231042	C	T	SDHA	c.822C>T	NM_004168.4	NP_004159.2:p.(Gly274=)	NC_000005.9:g.231042C>T	(Likely) benign	2 labs	c4b2b8b48e
2:179498239 TTN G>A	2	179498239	179498239	G	A	TTN	c.42847C>T	NM_001267550.2	NP_001254479.2:p.(Arg14283Cys)	NC_000002.11:g.179498239G>A	VUS	3 labs	c4dad29ff3
6:56458507 DST C>T	6	56458507	56458507	C	T	DST	c.6323G>A	NM_001144769.5	NP_001138241.1:p.(Arg2108His)	NC_000006.11:g.56458507C>T	VUS	2 labs	c4f49792fc
3:132193770 DNAJC13 G>A	3	132193770	132193770	G	A	DNAJC13	c.2292-6G>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132193770G>A	(Likely) benign	2 labs	c51d327af6
1:156105684 LMNA C>G	1	156105684	156105684	C	G	LMNA	c.937-8C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105684C>G	(Likely) benign	2 labs	c5401bb605
17:36485146 GPR179 G>A	17	36485146	36485146	G	A	GPR179	c.4306C>T	NM_001004334.4	NP_001004334.3:p.(Arg1436Trp)	NC_000017.10:g.36485146G>A	(Likely) benign	2 labs	c5514709b0
2:179404587 TTN T>G	2	179404587	179404587	T	G	TTN	c.98205A>C	NM_001267550.2	NP_001254479.2:p.(Ile32735=)	NC_000002.11:g.179404587T>G	(Likely) benign	3 labs	c5674dd052
4:47945275 CNGA1 G>A	4	47945275	47945275	G	A	CNGA1	c.360C>T	NM_001142564.2	NP_001136036.2:p.(Asn120=)	NC_000004.11:g.47945275G>A	(Likely) benign	2 labs	c56850b544
6:3225714 TUBB2B G>A	6	3225714	3225714	G	A	TUBB2B	c.609C>T	NM_178012.5	NP_821080.1:p.(Asp203=)	NC_000006.11:g.3225714G>A	(Likely) benign	2 labs	c5eb532bc9
3:138665182 FOXL2 C>T	3	138665182	138665182	C	T	FOXL2	c.383G>A	NM_023067.4	NP_075555.1:p.(Trp128Ter)	NC_000003.11:g.138665182C>T	(Likely) pathogenic	2 labs	c63e3840f5
6:73001756 RIMS1 G>A	6	73001756	73001756	G	A	RIMS1	c.3850+7G>A	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.73001756G>A	(Likely) benign	2 labs	c642ecab5d
7:128480099 FLNC C>T	7	128480099	128480099	C	T	FLNC	c.1434C>T	NM_001458.5	NP_001449.3:p.(Arg478=)	NC_000007.13:g.128480099C>T	(Likely) benign	3 labs	c6772f2d9f
10:73377094 CDH23 C>T	10	73377094	73377094	C	T	CDH23	c.1078C>T	NM_022124.6	NP_071407.4:p.(Leu360=)	NC_000010.10:g.73377094C>T	(Likely) benign	3 labs	c69bb0aaa6
2:202505001 TMEM237 A>G	2	202505001	202505001	A	G	TMEM237	c.51-13T>C	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202505001A>G	(Likely) benign	2 labs	c6e502a79e
15:75652240 MAN2C1 T>C	15	75652240	75652240	T	C	MAN2C1	c.1792+4A>G	NM_001256494.2	NP_001243423.1:p.?	NC_000015.9:g.75652240T>C	VUS	2 labs	c6eaf3a0d6
4:177648966 VEGFC C>T	4	177648966	177648966	C	T	VEGFC	c.518G>A	NM_005429.5	NP_005420.1:p.(Cys173Tyr)	NC_000004.11:g.177648966C>T	VUS	2 labs	c6f1a15c22
1:236908060 ACTN2 A>G	1	236908060	236908060	A	G	ACTN2	c.1390A>G	NM_001103.4	NP_001094.1:p.(Ile464Val)	NC_000001.10:g.236908060A>G	VUS	2 labs	c748ce8804
17:36483889 GPR179 G>C	17	36483889	36483889	G	C	GPR179	c.5563C>G	NM_001004334.4	NP_001004334.3:p.(Leu1855Val)	NC_000017.10:g.36483889G>C	(Likely) benign	2 labs	c74b385cfe
16:16248500 ABCC6 C>T	16	16248500	16248500	C	T	ABCC6	c.4193G>A	NM_001171.6	NP_001162.5:p.(Arg1398Gln)	NC_000016.9:g.16248500C>T	(Likely) benign	2 labs	c74c0b7235
16:46755060 MYLK3 T>C	16	46755060	46755060	T	C	MYLK3	c.1960A>G	NM_182493.3	NP_872299.2:p.(Ile654Val)	NC_000016.9:g.46755060T>C	(Likely) benign	2 labs	c756a837f3
3:37042536 MLH1 C>T	3	37042536	37042536	C	T	MLH1	c.298C>T	NM_000249.4	NP_000240.1:p.(Arg100Ter)	NC_000003.11:g.37042536C>T	(Likely) pathogenic	3 labs	c7a2865457
12:2791130 CACNA1C C>T	12	2791130	2791130	C	T	CACNA1C	c.5603C>T	NM_199460.4	NP_955630.3:p.(Pro1868Leu)	NC_000012.11:g.2791130C>T	(Likely) benign	2 labs	c7aee61382
12:8987249 A2ML1 C>G	12	8987249	8987249	C	G	A2ML1	c.463-9C>G	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8987249C>G	(Likely) benign	2 labs	c7c6c10363
2:71797712 DYSF G>A	2	71797712	71797712	G	A	DYSF	c.3083-17G>A	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71797712G>A	(Likely) benign	2 labs	c7d2027a22
6:129826383 LAMA2 T>C	6	129826383	129826383	T	C	LAMA2	c.8586T>C	NM_000426.4	NP_000417.3:p.(Tyr2862=)	NC_000006.11:g.129826383T>C	(Likely) benign	2 labs	c7db0219ba
4:123664498 BBS12 G>A	4	123664498	123664498	G	A	BBS12	c.1451G>A	NM_152618.3	NP_689831.2:p.(Arg484Lys)	NC_000004.11:g.123664498G>A	(Likely) benign	3 labs	c7fc4d7a0b
10:112583296 RBM20 AGT>A	10	112583296	112583299	AGT	A	RBM20	c.3377_3378del	NM_001134363.3	NP_001127835.2:p.(Val1126GlyfsTer19)	NC_000010.10:g.112583298_112583299del	(Likely) pathogenic	2 labs	c7f8637056
3:12645703 RAF1 T>C	3	12645703	12645703	T	C	RAF1	c.766A>G	NM_002880.4	NP_002871.1:p.(Arg256Gly)	NC_000003.11:g.12645703T>C	(Likely) pathogenic	2 labs	c8186cf316
1:89520329 GBP1 GAAAAAC>G	1	89520329	89520336	GAAAAAC	G	GBP1	c.1665+30_1665+35del	NM_002053.3	NP_002044.2:p.?	NC_000001.10:g.89520331_89520336del	(Likely) benign	2 labs	c81a87d4a4
4:6288902 WFS1 G>C	4	6288902	6288902	G	C	WFS1	c.315G>C	NM_006005.3	NP_005996.2:p.(Glu105Asp)	NC_000004.11:g.6288902G>C	VUS	2 labs	c84b1245f6
X:153583250 FLNA G>GT	X	153583250	153583251	G	GT	FLNA	c.5159dup	NM_001110556.2	NP_001104026.1:p.(Tyr1720Ter)	NC_000023.10:g.153583251dup	(Likely) pathogenic	2 labs	c85c96628e
X:17705984 NHS G>A	X	17705984	17705984	G	A	NHS	c.688G>A	NM_001291867.2	NP_001278796.1:p.(Ala230Thr)	NC_000023.10:g.17705984G>A	(Likely) benign	2 labs	c8700d8d93
2:179406225 TTN C>T	2	179406225	179406225	C	T	TTN	c.97579G>A	NM_001267550.2	NP_001254479.2:p.(Gly32527Ser)	NC_000002.11:g.179406225C>T	VUS	2 labs	c870e70ced
X:100493970 DRP2 G>A	X	100493970	100493970	G	A	DRP2	c.439G>A	NM_001939.3	NP_001930.2:p.(Ala147Thr)	NC_000023.10:g.100493970G>A	(Likely) benign	2 labs	c882b7daa9
20:4680070 PRNP T>C	20	4680070	4680070	T	C	PRNP	c.204T>C	NM_000311.5	NP_000302.1:p.(Pro68=)	NC_000020.10:g.4680070T>C	(Likely) benign	2 labs	c888f1070c
X:119562500 LAMP2 C>T	X	119562500	119562500	C	T	LAMP2	c.*2678G>A	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119562500C>T	(Likely) benign	3 labs	c89242ba99
2:179411745 TTN C>T	2	179411745	179411745	C	T	TTN	c.94507G>A	NM_001267550.2	NP_001254479.2:p.(Ala31503Thr)	NC_000002.11:g.179411745C>T	VUS	2 labs	c89eadd756
2:220290449 DES C>T	2	220290449	220290449	C	T	DES	c.1353C>T	NM_001927.4	NP_001918.3:p.(Ile451=)	NC_000002.11:g.220290449C>T	(Likely) benign	2 labs	c8a39074a9
5:112178112 APC C>T	5	112178112	112178112	C	T	APC	c.6821C>T	NM_000038.6	NP_000029.2:p.(Ala2274Val)	NC_000005.9:g.112178112C>T	(Likely) benign	5 labs	c8b0b06176
X:69498430 ARR3 CG>C	X	69498430	69498434	CG	C	ARR3	c.848del	NM_004312.3	NP_004303.2:p.(Gly283AlafsTer42)	NC_000023.10:g.69498434del	(Likely) pathogenic	2 labs	c8c465088b
20:61982361 CHRNA4 C>T	20	61982361	61982361	C	T	CHRNA4	c.402G>A	NM_000744.7	NP_000735.1:p.(Ala134=)	NC_000020.10:g.61982361C>T	(Likely) benign	2 labs	c8cea5a480
6:32017141 TNXB C>T	6	32017141	32017141	C	T	TNXB	c.9657G>A	NM_019105.8	NP_061978.6:p.(Val3219=)	NC_000006.11:g.32017141C>T	(Likely) benign	2 labs	c8db847901
16:89337224 ANKRD11 C>A	16	89337224	89337224	C	A	ANKRD11	c.7806+1G>T	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89337224C>A	(Likely) pathogenic	2 labs	c8e2967d54
14:88459434 GALC G>T	14	88459434	88459434	G	T	GALC	c.75C>A	NM_000153.4	NP_000144.2:p.(Gly25=)	NC_000014.8:g.88459434G>T	(Likely) benign	2 labs	c914699f31
5:172661850 NKX2-5 C>G	5	172661850	172661850	C	G	NKX2-5	c.237G>C	NM_001166175.2	NP_001159647.1:p.(Pro79=)	NC_000005.9:g.172661850C>G	(Likely) benign	2 labs	c943e8bdf2
14:97326905 VRK1 A>G	14	97326905	97326905	A	G	VRK1	c.901A>G	NM_003384.3	NP_003375.1:p.(Lys301Glu)	NC_000014.8:g.97326905A>G	VUS	2 labs	c97714eeeb
14:23851739 MYH6 G>T	14	23851739	23851739	G	T	MYH6	c.5694C>A	NM_002471.4	NP_002462.2:p.(Phe1898Leu)	NC_000014.8:g.23851739G>T	VUS	3 labs	c981333b7d
21:47423621 COL6A1 C>T	21	47423621	47423621	C	T	COL6A1	c.2781C>T	NM_001848.3	NP_001839.2:p.(Tyr927=)	NC_000021.8:g.47423621C>T	(Likely) benign	3 labs	c98333d374
16:89341535 ANKRD11 C>T	16	89341535	89341535	C	T	ANKRD11	c.7535G>A	NM_013275.6	NP_037407.4:p.(Arg2512Gln)	NC_000016.9:g.89341535C>T	(Likely) pathogenic	2 labs	c990186a5d
3:123419132 MYLK G>A	3	123419132	123419132	G	A	MYLK	c.3183C>T	NM_053025.4	NP_444253.3:p.(Ser1061=)	NC_000003.11:g.123419132G>A	(Likely) benign	2 labs	c99bbc4933
16:88498884 ZNF469 C>T	16	88498884	88498884	C	T	ZNF469	c.5006C>T	NM_001367624.2	NP_001354553.1:p.(Ala1669Val)	NC_000016.9:g.88498884C>T	(Likely) benign	2 labs	c9a5c2cf8b
2:179606375 TTN G>C	2	179606375	179606375	G	C	TTN	c.11585C>G	NM_001267550.2	NP_001254479.2:p.(Pro3862Arg)	NC_000002.11:g.179606375G>C	VUS	3 labs	c9a60e4bcf
6:64430769 EYS TG>T	6	64430769	64430770	TG	T	EYS	c.9220del	NM_001292009.2	NP_001278938.1:p.(Gln3074ArgfsTer8)	NC_000006.11:g.64430770del	(Likely) pathogenic	2 labs	c9afb3f8b5
1:151373081 PSMB4 A>G	1	151373081	151373081	A	G	PSMB4	c.494+17A>G	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151373081A>G	VUS	2 labs	c9b061231a
10:112570130 RBM20 G>C	10	112570130	112570130	G	C	RBM20	c.1801-11G>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112570130G>C	(Likely) benign	4 labs	c9c175e46d
2:25972785 ASXL2 T>C	2	25972785	25972785	T	C	ASXL2	c.1640A>G	NM_018263.6	NP_060733.4:p.(Gln547Arg)	NC_000002.11:g.25972785T>C	(Likely) benign	2 labs	c9cf06a238
2:179457147 TTN G>A	2	179457147	179457147	G	A	TTN	c.59585C>T	NM_001267550.2	NP_001254479.2:p.(Pro19862Leu)	NC_000002.11:g.179457147G>A	(Likely) benign	2 labs	c9e21ecf45
2:73613031 ALMS1 TGGAGGAGGAGGAGGA>T	2	73613031	73613070	TGGAGGAGGAGGAGGA	T	ALMS1	c.60_77del	NM_015120.4	NP_055935.4:p.(Glu24_Glu29del)	NC_000002.11:g.73613056_73613070del	(Likely) benign	3 labs	c9e81ea17f
16:775963 CCDC78 C>A	16	775963	775963	C	A	CCDC78	c.180+3G>T	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.775963C>A	VUS	2 labs	c9f948a1a8
6:32041621 TNXB G>A	6	32041621	32041621	G	A	TNXB	c.4484C>T	NM_019105.8	NP_061978.6:p.(Thr1495Ile)	NC_000006.11:g.32041621G>A	(Likely) benign	2 labs	ca01e24d42
5:149265919 PDE6A A>T	5	149265919	149265919	A	T	PDE6A	c.1747T>A	NM_000440.3	NP_000431.2:p.(Tyr583Asn)	NC_000005.9:g.149265919A>T	VUS	2 labs	ca03665c8b
8:38111164 DDHD2 A>G	8	38111164	38111164	A	G	DDHD2	c.1982A>G	NM_015214.3	NP_056029.2:p.(Tyr661Cys)	NC_000008.10:g.38111164A>G	VUS	3 labs	ca4847913e
8:10470099 RP1L1 G>A	8	10470099	10470099	G	A	RP1L1	c.1509C>T	NM_178857.6	NP_849188.4:p.(Pro503=)	NC_000008.10:g.10470099G>A	(Likely) benign	2 labs	ca8e5adbf4
12:40707861 LRRK2 C>T	12	40707861	40707861	C	T	LRRK2	c.4624C>T	NM_198578.4	NP_940980.4:p.(Pro1542Ser)	NC_000012.11:g.40707861C>T	(Likely) benign	2 labs	ca909f51cc
20:746371 SLC52A3 G>C	20	746371	746371	G	C	SLC52A3	c.48C>G	NM_001370086.1	NP_001357015.1:p.(Ser16=)	NC_000020.10:g.746371G>C	(Likely) benign	2 labs	ca90cdd524
1:216498866 USH2A G>GTGGC	1	216498866	216498872	G	GTGGC	USH2A	c.920_923dup	NM_206933.3	NP_996816.2:p.(His308GlnfsTer16)	NC_000001.10:g.216498869_216498872dup	(Likely) pathogenic	2 labs	caa687ff93
7:128497215 FLNC G>A	7	128497215	128497215	G	A	FLNC	c.7605G>A	NM_001458.5	NP_001449.3:p.(Ser2535=)	NC_000007.13:g.128497215G>A	(Likely) benign	4 labs	cac9fb6864
6:170871046 TBP ACAG>A	6	170871046	170871105	ACAG	A	TBP	c.279_281del	NM_003194.5	NP_003185.1:p.(Gln95del)	NC_000006.11:g.170871103_170871105del	(Likely) benign	3 labs	cad73985ef
8:62596704 ASPH G>A	8	62596704	62596704	G	A	ASPH	c.147C>T	NM_004318.4	NP_004309.2:p.(Leu49=)	NC_000008.10:g.62596704G>A	(Likely) benign	2 labs	cad5ba79c1
7:130041748 CEP41 G>C	7	130041748	130041748	G	C	CEP41	c.616C>G	NM_018718.3	NP_061188.1:p.(Pro206Ala)	NC_000007.13:g.130041748G>C	(Likely) benign	3 labs	cb1943ef1a
2:179455314 TTN G>T	2	179455314	179455314	G	T	TTN	c.61138C>A	NM_001267550.2	NP_001254479.2:p.(Leu20380Met)	NC_000002.11:g.179455314G>T	(Likely) benign	2 labs	cb1e23cf00
14:23893979 MYH7 G>A	14	23893979	23893979	G	A	MYH7	c.2678C>T	NM_000257.4	NP_000248.2:p.(Ala893Val)	NC_000014.8:g.23893979G>A	(Likely) pathogenic	2 labs	cb1eae4ef6
2:179411969 TTN C>T	2	179411969	179411969	C	T	TTN	c.94283G>A	NM_001267550.2	NP_001254479.2:p.(Arg31428His)	NC_000002.11:g.179411969C>T	(Likely) benign	3 labs	cb3bfdeab3
6:112528290 LAMA4 G>A	6	112528290	112528290	G	A	LAMA4	c.354C>T	NM_001105206.3	NP_001098676.2:p.(Ile118=)	NC_000006.11:g.112528290G>A	(Likely) benign	2 labs	cb541e035f
12:2694638 CACNA1C C>T	12	2694638	2694638	C	T	CACNA1C	c.2436C>T	NM_199460.4	NP_955630.3:p.(Asp812=)	NC_000012.11:g.2694638C>T	(Likely) benign	2 labs	cb6ee69482
15:31339305 TRPM1 G>C	15	31339305	31339305	G	C	TRPM1	c.1815+9C>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31339305G>C	(Likely) benign	2 labs	cb75a4fae8
2:179392403 TTN G>A	2	179392403	179392403	G	A	TTN	c.107450C>T	NM_001267550.2	NP_001254479.2:p.(Ser35817Leu)	NC_000002.11:g.179392403G>A	VUS	2 labs	cb7d354fd1
2:215632230 BARD1 G>C	2	215632230	215632230	G	C	BARD1	c.1544C>G	NM_000465.4	NP_000456.2:p.(Ser515Cys)	NC_000002.11:g.215632230G>C	VUS	2 labs	cb7e394806
12:30822108 IPO8 C>T	12	30822108	30822108	C	T	IPO8	c.1144+9G>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30822108C>T	(Likely) benign	2 labs	cba73e7d9a
16:88789499 PIEZO1 G>A	16	88789499	88789499	G	A	PIEZO1	c.4495+4C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88789499G>A	(Likely) benign	3 labs	cbc1eaef6b
6:7584294 DSP A>T	6	7584294	7584294	A	T	DSP	c.6799A>T	NM_004415.4	NP_004406.2:p.(Thr2267Ser)	NC_000006.11:g.7584294A>T	(Likely) benign	2 labs	cc4f6ec8f7
3:14176655 TMEM43 C>T	3	14176655	14176655	C	T	TMEM43	c.706-3C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14176655C>T	(Likely) benign	2 labs	cc6bff0399
14:21679710 HNRNPC T>G	14	21679710	21679710	T	G	HNRNPC	c.692A>C	NM_031314.3	NP_112604.2:p.(Asp231Ala)	NC_000014.8:g.21679710T>G	(Likely) benign	2 labs	cc72e7b435
2:166165305 SCN2A G>A	2	166165305	166165305	G	A	SCN2A	c.605+1G>A	NM_001040143.2	NP_001035233.1:p.?	NC_000002.11:g.166165305G>A	(Likely) pathogenic	2 labs	cca99f3e3e
1:11188899 MTOR C>T	1	11188899	11188899	C	T	MTOR	c.5811+13G>A	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11188899C>T	(Likely) benign	2 labs	cca9ce6463
2:179549707 TTN G>A	2	179549707	179549707	G	A	TTN	c.32480C>T	NM_001267550.2	NP_001254479.2:p.(Ala10827Val)	NC_000002.11:g.179549707G>A	(Likely) benign	6 labs	ccb55b2b40
18:29172843 TTR T>C	18	29172843	29172843	T	C	TTR	c.70-16T>C	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29172843T>C	(Likely) benign	2 labs	ccae0b7f51
1:216595601 USH2A A>G	1	216595601	216595601	A	G	USH2A	c.78T>C	NM_206933.4	NP_996816.3:p.(Ala26=)	NC_000001.10:g.216595601A>G	(Likely) benign	2 labs	ccd78a942e
13:32914172 BRCA2 T>TA	13	32914172	32914173	T	TA	BRCA2	c.5681dup	NM_000059.4	NP_000050.3:p.(Tyr1894Ter)	NC_000013.10:g.32914173dup	(Likely) pathogenic	3 labs	ccdb0e2465
14:64604592 SYNE2 C>G	14	64604592	64604592	C	G	SYNE2	c.14734C>G	NM_182914.3	NP_878918.2:p.(Pro4912Ala)	NC_000014.8:g.64604592C>G	(Likely) benign	2 labs	cce25785db
11:61730100 BEST1 G>A	11	61730100	61730100	G	A	BEST1	c.1294G>A	NM_001139443.2	NP_001132915.1:p.(Val432Ile)	NC_000011.9:g.61730100G>A	(Likely) benign	2 labs	ccfbba894c
10:89690794 PTEN T>C	10	89690794	89690794	T	C	PTEN	c.210-9T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690794T>C	(Likely) benign	3 labs	cd226093b5
10:100189550 HPS1 T>C	10	100189550	100189550	T	C	HPS1	c.865A>G	NM_000195.5	NP_000186.2:p.(Thr289Ala)	NC_000010.10:g.100189550T>C	VUS	2 labs	cd277253ef
11:1955553 TNNT3 T>C	11	1955553	1955553	T	C	TNNT3	c.343-9T>C	NM_001297646.2	NP_001284575.1:p.?	NC_000011.9:g.1955553T>C	(Likely) benign	2 labs	cd46f522b1
2:8890333 KIDINS220 T>C	2	8890333	8890333	T	C	KIDINS220	c.3323A>G	NM_020738.4	NP_065789.1:p.(Asn1108Ser)	NC_000002.11:g.8890333T>C	(Likely) benign	2 labs	cd5219d24d
11:116703640 APOC3 G>C	11	116703640	116703640	G	C	APOC3	c.*40G>C	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703640G>C	(Likely) benign	2 labs	cd64090dfe
1:103385900 COL11A1 C>T	1	103385900	103385900	C	T	COL11A1	c.3765G>A	NM_080629.3	NP_542196.2:p.(Gly1255=)	NC_000001.10:g.103385900C>T	(Likely) benign	2 labs	cdabe07ea4
21:46897816 COL18A1 C>G	21	46897816	46897816	C	G	COL18A1	c.2403C>G	NM_130444.3	NP_569711.2:p.(Pro801=)	NC_000021.8:g.46897816C>G	(Likely) benign	2 labs	cdbaf1e25c
X:153609317 EMD C>T	X	153609317	153609317	C	T	EMD	c.525C>T	NM_000117.3	NP_000108.1:p.(Ser175=)	NC_000023.10:g.153609317C>T	(Likely) benign	2 labs	cdc117ab50
6:75893741 COL12A1 C>A	6	75893741	75893741	C	A	COL12A1	c.1117G>T	NM_004370.6	NP_004361.3:p.(Ala373Ser)	NC_000006.11:g.75893741C>A	(Likely) benign	2 labs	cde7584fe6
1:55518093 PCSK9 G>A	1	55518093	55518093	G	A	PCSK9	c.657+9G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518093G>A	(Likely) benign	2 labs	ce0a96ad7e
1:216011442 USH2A C>T	1	216011442	216011442	C	T	USH2A	c.9262G>A	NM_206933.4	NP_996816.3:p.(Glu3088Lys)	NC_000001.10:g.216011442C>T	(Likely) benign	2 labs	ce5c1e62ea
20:45353991 SLC2A10 G>T	20	45353991	45353991	G	T	SLC2A10	c.316G>T	NM_030777.4	NP_110404.1:p.(Ala106Ser)	NC_000020.10:g.45353991G>T	(Likely) benign	2 labs	ce64ae57c5
12:110232247 TRPV4 G>A	12	110232247	110232247	G	A	TRPV4	c.1378C>T	NM_021625.5	NP_067638.3:p.(Arg460Trp)	NC_000012.11:g.110232247G>A	(Likely) benign	2 labs	ce7043ff19
17:1562722 PRPF8 G>A	17	1562722	1562722	G	A	PRPF8	c.5067C>T	NM_006445.4	NP_006436.3:p.(Thr1689=)	NC_000017.10:g.1562722G>A	(Likely) benign	2 labs	ce78874e41
6:80197173 LCA5 G>A	6	80197173	80197173	G	A	LCA5	c.1642C>T	NM_181714.4	NP_859065.2:p.(Pro548Ser)	NC_000006.11:g.80197173G>A	(Likely) benign	2 labs	ce7a053391
X:69366608 IGBP1 T>C	X	69366608	69366608	T	C	IGBP1	c.608T>C	NM_001551.3	NP_001542.1:p.(Ile203Thr)	NC_000023.10:g.69366608T>C	(Likely) benign	2 labs	ce7b7f3d43
17:10533602 MYH3 C>T	17	10533602	10533602	C	T	MYH3	c.5457+3G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10533602C>T	(Likely) benign	3 labs	ce814a0b06
7:105122891 PUS7 T>TA	7	105122891	105122907	T	TA	PUS7	c.921-5dup	NM_019042.5	NP_061915.2:p.?	NC_000007.13:g.105122907dup	(Likely) benign	2 labs	ceaf370015
12:2719790 CACNA1C C>T	12	2719790	2719790	C	T	CACNA1C	c.3702C>T	NM_199460.4	NP_955630.3:p.(Tyr1234=)	NC_000012.11:g.2719790C>T	(Likely) benign	3 labs	cebb95898f
X:41203041 DDX3X C>G	X	41203041	41203041	C	G	DDX3X	c.731C>G	NM_001356.5	NP_001347.3:p.(Ser244Ter)	NC_000023.10:g.41203041C>G	(Likely) pathogenic	2 labs	cedde852e7
16:921187 LMF1 C>T	16	921187	921187	C	T	LMF1	c.653G>A	NM_001352018.2	NP_001338947.1:p.(Arg218Gln)	NC_000016.9:g.921187C>T	(Likely) benign	2 labs	cee59faed0
8:42977591 POMK G>C	8	42977591	42977591	G	C	POMK	c.624G>C	NM_032237.5	NP_115613.1:p.(Leu208=)	NC_000008.10:g.42977591G>C	(Likely) benign	2 labs	ceecc5dd37
7:74193620 NCF1 G>A	7	74193620	74193620	G	A	NCF1	c.247G>A	NM_000265.6	NP_000256.4:p.(Gly83Arg)	NC_000007.13:g.74193620G>A	(Likely) benign	2 labs	cf0db64ed6
7:96635420 DLX6 A>AGCC	7	96635420	96635449	A	AGCC	DLX6	c.158_160dup	NM_005222.4	NP_005213.3:p.(Pro53dup)	NC_000007.13:g.96635447_96635449dup	(Likely) benign	2 labs	cf0ea1bc3d
14:23887578 MYH7 C>T	14	23887578	23887578	C	T	MYH7	c.4010G>A	NM_000257.4	NP_000248.2:p.(Arg1337Gln)	NC_000014.8:g.23887578C>T	VUS	2 labs	cf304eb659
10:69934259 MYPN G>A	10	69934259	69934259	G	A	MYPN	c.2410G>A	NM_032578.4	NP_115967.2:p.(Gly804Arg)	NC_000010.10:g.69934259G>A	(Likely) benign	5 labs	cf41df7b3d
1:11080723 TARDBP T>TG	1	11080723	11080725	T	TG	TARDBP	c.714+69dup	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11080725dup	(Likely) benign	2 labs	cf4263baa6
4:114279674 ANK2 C>A	4	114279674	114279674	C	A	ANK2	c.9900C>A	NM_001148.6	NP_001139.3:p.(Ser3300Arg)	NC_000004.11:g.114279674C>A	(Likely) benign	3 labs	cf563072e6
1:94577010 ABCA4 T>C	1	94577010	94577010	T	C	ABCA4	c.286A>G	NM_000350.3	NP_000341.2:p.(Asn96Asp)	NC_000001.10:g.94577010T>C	(Likely) pathogenic	2 labs	cf8bf8f449
11:108151799 ATM G>A	11	108151799	108151799	G	A	ATM	c.3480G>A	NM_000051.4	NP_000042.3:p.(Val1160=)	NC_000011.9:g.108151799G>A	(Likely) benign	2 labs	cf93235eee
9:137726831 COL5A1 C>T	9	137726831	137726831	C	T	COL5A1	c.5151C>T	NM_000093.5	NP_000084.3:p.(Asp1717=)	NC_000009.11:g.137726831C>T	(Likely) benign	3 labs	cf9f6b08b9
1:5965750 NPHP4 G>C	1	5965750	5965750	G	C	NPHP4	c.1705C>G	NM_015102.5	NP_055917.1:p.(Gln569Glu)	NC_000001.10:g.5965750G>C	(Likely) benign	2 labs	cfaf869812
11:47353755 MYBPC3 G>A	11	47353755	47353755	G	A	MYBPC3	c.3682C>T	NM_000256.3	NP_000247.2:p.(Arg1228Cys)	NC_000011.9:g.47353755G>A	VUS	2 labs	cfb916d5fd
X:71830942 PHKA1 C>T	X	71830942	71830942	C	T	PHKA1	c.2462G>A	NM_002637.4	NP_002628.2:p.(Arg821His)	NC_000023.10:g.71830942C>T	(Likely) benign	3 labs	cfbb4a489f
5:149447771 CSF1R G>A	5	149447771	149447771	G	A	CSF1R	c.1626+7C>T	NM_001375320.1	NP_001362249.1:p.?	NC_000005.9:g.149447771G>A	(Likely) benign	2 labs	cfe4a0a3bd
12:122252523 SETD1B C>T	12	122252523	122252523	C	T	SETD1B	c.2402C>T	NM_001353345.2	NP_001340274.1:p.(Ala801Val)	NC_000012.11:g.122252523C>T	(Likely) benign	2 labs	cfe816f73f
6:56351952 DST C>T	6	56351952	56351952	C	T	DST	c.14640G>A	NM_001144769.5	NP_001138241.1:p.(Leu4880=)	NC_000006.11:g.56351952C>T	(Likely) benign	2 labs	cffd0f36fb
9:139403543 NOTCH1 C>T	9	139403543	139403543	C	T	NOTCH1	c.2970-20G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139403543C>T	(Likely) benign	2 labs	d00cdf8d7e
17:10538701 MYH3 T>C	17	10538701	10538701	T	C	MYH3	c.4155A>G	NM_002470.4	NP_002461.2:p.(Glu1385=)	NC_000017.10:g.10538701T>C	(Likely) benign	2 labs	d031961c41
2:179616121 TTN T>C	2	179616121	179616121	T	C	TTN	c.11006A>G	NM_133379.5	NP_596870.2:p.(Asp3669Gly)	NC_000002.11:g.179616121T>C	(Likely) benign	2 labs	d049c42b8b
2:179559407 TTN T>A	2	179559407	179559407	T	A	TTN	c.31349-4A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559407T>A	(Likely) benign	2 labs	d0572649ee
8:55540441 RP1 C>T	8	55540441	55540441	C	T	RP1	c.3999C>T	NM_006269.2	NP_006260.1:p.(Tyr1333=)	NC_000008.10:g.55540441C>T	(Likely) benign	2 labs	d0958300d7
10:112541300 RBM20 G>C	10	112541300	112541300	G	C	RBM20	c.933G>C	NM_001134363.3	NP_001127835.2:p.(Leu311=)	NC_000010.10:g.112541300G>C	(Likely) benign	3 labs	d0e0cc43fb
22:41075532 MCHR1 A>T	22	41075532	41075532	A	T	MCHR1	c.-125A>T	NM_005297.4	NP_005288.4:p.?	NC_000022.10:g.41075532A>T	(Likely) benign	2 labs	d0fcceeb5f
1:237969493 RYR2 CT>C	1	237969493	237969502	CT	C	RYR2	c.14217del	NM_001035.3	NP_001026.2:p.(Phe4739LeufsTer15)	NC_000001.10:g.237969502del	(Likely) benign	2 labs	d10273dda5
2:179659726 TTN C>T	2	179659726	179659726	C	T	TTN	c.1168G>A	NM_001267550.2	NP_001254479.2:p.(Gly390Ser)	NC_000002.11:g.179659726C>T	VUS	4 labs	d114cb67a4
X:110987999 ALG13 T>A	X	110987999	110987999	T	A	ALG13	c.2565T>A	NM_001257231.2	NP_001244160.1:p.(Pro855=)	NC_000023.10:g.110987999T>A	(Likely) benign	3 labs	d118012759
19:4101221 MAP2K2 C>T	19	4101221	4101221	C	T	MAP2K2	c.580+6G>A	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4101221C>T	(Likely) benign	4 labs	d118701180
19:11141458 SMARCA4 C>T	19	11141458	11141458	C	T	SMARCA4	c.3435C>T	NM_001128844.3	NP_001122316.1:p.(Pro1145=)	NC_000019.9:g.11141458C>T	(Likely) benign	2 labs	d140082b2c
17:41245439 BRCA1 T>C	17	41245439	41245439	T	C	BRCA1	c.2109A>G	NM_007294.4	NP_009225.1:p.(Thr703=)	NC_000017.10:g.41245439T>C	(Likely) benign	4 labs	d142eba71c
2:179566761 TTN A>C	2	179566761	179566761	A	C	TTN	c.30538+6T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566761A>C	(Likely) benign	5 labs	d15788233f
10:92679936 ANKRD1 C>T	10	92679936	92679936	C	T	ANKRD1	c.197G>A	NM_014391.3	NP_055206.2:p.(Arg66Gln)	NC_000010.10:g.92679936C>T	(Likely) benign	4 labs	d15b21c7ba
7:91709235 AKAP9 G>A	7	91709235	91709235	G	A	AKAP9	c.7788G>A	NM_005751.5	NP_005742.4:p.(Glu2596=)	NC_000007.13:g.91709235G>A	(Likely) benign	2 labs	d186c8faf6
6:56492790 DST T>A	6	56492790	56492790	T	A	DST	c.4539+7A>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56492790T>A	(Likely) benign	2 labs	d1dad0570a
19:11227576 LDLR C>T	19	11227576	11227576	C	T	LDLR	c.1747C>T	NM_000527.5	NP_000518.1:p.(His583Tyr)	NC_000019.9:g.11227576C>T	(Likely) pathogenic	2 labs	d1fa20c113
17:41203103 BRCA1 C>A	17	41203103	41203103	C	A	BRCA1	c.5309G>T	NM_007294.4	NP_009225.1:p.(Gly1770Val)	NC_000017.10:g.41203103C>A	(Likely) pathogenic	4 labs	d208995f0d
1:237961435 RYR2 G>T	1	237961435	237961435	G	T	RYR2	c.14055G>T	NM_001035.3	NP_001026.2:p.(Lys4685Asn)	NC_000001.10:g.237961435G>T	VUS	2 labs	d213620a66
20:57478657 GNAS T>C	20	57478657	57478657	T	C	GNAS	c.*173+17T>C	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57478657T>C	(Likely) benign	2 labs	d216b23d39
9:135171245 SETX C>T	9	135171245	135171245	C	T	SETX	c.6106+14G>A	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135171245C>T	(Likely) benign	3 labs	d237bd5627
17:33434068 RAD51D C>T	17	33434068	33434068	C	T	RAD51D	c.419G>A	NM_002878.4	NP_002869.3:p.(Gly140Glu)	NC_000017.10:g.33434068C>T	VUS	4 labs	d2431ce25f
3:32181761 GPD1L C>T	3	32181761	32181761	C	T	GPD1L	c.408C>T	NM_015141.4	NP_055956.1:p.(Asp136=)	NC_000003.11:g.32181761C>T	(Likely) benign	2 labs	d27072101a
16:56536580 BBS2 T>C	16	56536580	56536580	T	C	BBS2	c.940+5A>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56536580T>C	(Likely) benign	2 labs	d27162e01f
19:42492296 ATP1A3 G>C	19	42492296	42492296	G	C	ATP1A3	c.193-5C>G	NM_001256214.2	NP_001243143.1:p.?	NC_000019.9:g.42492296G>C	(Likely) benign	3 labs	d2a9c04f6f
15:85400780 ALPK3 C>G	15	85400780	85400780	C	G	ALPK3	c.2811C>G	NM_020778.5	NP_065829.4:p.(Ala937=)	NC_000015.9:g.85400780C>G	(Likely) benign	3 labs	d2bcc0de43
1:1475096 TMEM240 G>C	1	1475096	1475096	G	C	TMEM240	c.132C>G	NM_001114748.2	NP_001108220.1:p.(Gly44=)	NC_000001.10:g.1475096G>C	(Likely) benign	2 labs	d303a5039d
15:23890600 MAGEL2 C>T	15	23890600	23890600	C	T	MAGEL2	c.2290G>A	NM_019066.5	NP_061939.3:p.(Ala764Thr)	NC_000015.9:g.23890600C>T	(Likely) benign	3 labs	d305df44b0
4:6303280 WFS1 C>T	4	6303280	6303280	C	T	WFS1	c.1758C>T	NM_006005.3	NP_005996.2:p.(Ala586=)	NC_000004.11:g.6303280C>T	(Likely) benign	3 labs	d3094aadea
16:28884858 SH2B1 C>T	16	28884858	28884858	C	T	SH2B1	c.1988C>T	NM_001308293.2	NP_001295222.1:p.(Ala663Val)	NC_000016.9:g.28884858C>T	(Likely) benign	2 labs	d31191556b
1:201333480 TNNT2 G>A	1	201333480	201333480	G	A	TNNT2	c.405C>T	NM_001276347.2	NP_001263276.1:p.(Ala135=)	NC_000001.10:g.201333480G>A	(Likely) benign	3 labs	d3132d0b9e
9:139327599 INPP5E G>GCGCCCACCCCTCTAGCCA	9	139327599	139327608	G	GCGCCCACCCCTCTAGCCA	INPP5E	c.1159+7_1159+8insTGGCTAGAGGGGTGGGCG	NM_001318502.2	NP_001305431.1:p.?	NC_000009.11:g.139327607_139327608insCCTCTAGCCACGCCCACC	(Likely) benign	3 labs	d31555473b
X:49076194 CACNA1F CTCTTCCTCT>C	X	49076194	49076229	CTCTTCCTCT	C	CACNA1F	c.2466_2474del	NM_005183.4	NP_005174.2:p.(Glu823_Glu825del)	NC_000023.10:g.49076221_49076229del	(Likely) benign	2 labs	d34ba528b4
10:69881660 MYPN C>A	10	69881660	69881660	C	A	MYPN	c.465C>A	NM_032578.4	NP_115967.2:p.(Ala155=)	NC_000010.10:g.69881660C>A	(Likely) benign	2 labs	d3560754cd
2:241697884 KIF1A G>A	2	241697884	241697884	G	A	KIF1A	c.2550C>T	NM_001379631.1	NP_001366560.1:p.(Tyr850=)	NC_000002.11:g.241697884G>A	(Likely) benign	2 labs	d3560e69b7
6:121767966 GJA1 T>A	6	121767966	121767966	T	A	GJA1	c.-16-12T>A	NM_000165.5	NP_000156.1:p.?	NC_000006.11:g.121767966T>A	(Likely) benign	2 labs	d3a2ac18db
19:5844667 FUT3 T>G	19	5844667	5844667	T	G	FUT3	c.184A>C	NM_000149.4	NP_000140.1:p.(Thr62Pro)	NC_000019.9:g.5844667T>G	(Likely) benign	2 labs	d3b2ddd782
5:112162961 APC T>C	5	112162961	112162961	T	C	APC	c.1548+17T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162961T>C	(Likely) benign	2 labs	d3bb51bd36
17:59926633 BRIP1 T>TA	17	59926633	59926641	T	TA	BRIP1	c.380-17dup	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59926641dup	(Likely) benign	5 labs	d3c4102095
15:63351759 TPM1 C>T	15	63351759	63351759	C	T	TPM1	c.375-3C>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63351759C>T	(Likely) benign	2 labs	d3c4f9aff8
2:179634392 TTN ATT>A	2	179634392	179634398	ATT	A	TTN	c.8902+12_8902+13del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634397_179634398del	(Likely) benign	2 labs	d3ccb29b2f
1:156100532 LMNA G>A	1	156100532	156100532	G	A	LMNA	c.481G>A	NM_170707.4	NP_733821.1:p.(Glu161Lys)	NC_000001.10:g.156100532G>A	(Likely) pathogenic	5 labs	d3e236ed4c
4:6302665 WFS1 G>A	4	6302665	6302665	G	A	WFS1	c.1143G>A	NM_006005.3	NP_005996.2:p.(Leu381=)	NC_000004.11:g.6302665G>A	(Likely) benign	2 labs	d3f51d1d91
16:81941319 PLCG2 C>T	16	81941319	81941319	C	T	PLCG2	c.1497C>T	NM_002661.5	NP_002652.2:p.(Ala499=)	NC_000016.9:g.81941319C>T	(Likely) benign	4 labs	d4089a43fa
6:32029253 TNXB A>G	6	32029253	32029253	A	G	TNXB	c.7413T>C	NM_019105.8	NP_061978.6:p.(Pro2471=)	NC_000006.11:g.32029253A>G	(Likely) benign	2 labs	d41c295afe
7:81579832 CACNA2D1 T>TA	7	81579832	81579842	T	TA	CACNA2D1	c.3160-9dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81579842dup	(Likely) benign	2 labs	d424fb9c37
10:75863580 VCL G>A	10	75863580	75863580	G	A	VCL	c.2025G>A	NM_014000.3	NP_054706.1:p.(Val675=)	NC_000010.10:g.75863580G>A	(Likely) benign	5 labs	d42cbbc6c3
7:73480029 ELN C>T	7	73480029	73480029	C	T	ELN	c.1999C>T	NM_000501.4	NP_000492.2:p.(Pro667Ser)	NC_000007.13:g.73480029C>T	(Likely) benign	3 labs	d49fd75f7b
14:23859610 MYH6 C>T	14	23859610	23859610	C	T	MYH6	c.3388G>A	NM_002471.4	NP_002462.2:p.(Ala1130Thr)	NC_000014.8:g.23859610C>T	(Likely) benign	3 labs	d4c71e00f5
10:69934296 MYPN C>T	10	69934296	69934296	C	T	MYPN	c.2447C>T	NM_032578.4	NP_115967.2:p.(Pro816Leu)	NC_000010.10:g.69934296C>T	(Likely) benign	4 labs	d4d3029af9
8:17919807 ASAH1 A>G	8	17919807	17919807	A	G	ASAH1	c.629T>C	NM_177924.5	NP_808592.2:p.(Met210Thr)	NC_000008.10:g.17919807A>G	VUS	2 labs	d4d322fff1
1:236910983 ACTN2 G>A	1	236910983	236910983	G	A	ACTN2	c.799G>A	NM_001278344.2	NP_001265273.1:p.(Asp267Asn)	NC_000001.10:g.236910983G>A	(Likely) benign	4 labs	d4e8c1a793
15:85400995 ALPK3 G>A	15	85400995	85400995	G	A	ALPK3	c.3026G>A	NM_020778.5	NP_065829.4:p.(Arg1009Gln)	NC_000015.9:g.85400995G>A	VUS	3 labs	d4f620022b
3:189713239 P3H2 G>GA	3	189713239	189713248	G	GA	P3H2	c.481-9dup	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189713248dup	(Likely) benign	2 labs	d4f2345317
2:179402610 TTN C>T	2	179402610	179402610	C	T	TTN	c.99324G>A	NM_001267550.2	NP_001254479.2:p.(Lys33108=)	NC_000002.11:g.179402610C>T	(Likely) benign	2 labs	d5176c497f
18:21123536 NPC1 T>TA	18	21123536	21123554	T	TA	NPC1	c.2131-4dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21123554dup	(Likely) benign	2 labs	d51913f9c9
12:40742254 LRRK2 G>A	12	40742254	40742254	G	A	LRRK2	c.6324G>A	NM_198578.4	NP_940980.4:p.(Glu2108=)	NC_000012.11:g.40742254G>A	(Likely) benign	3 labs	d54a8ed8f0
2:179429212 TTN C>T	2	179429212	179429212	C	T	TTN	c.81647G>A	NM_001267550.2	NP_001254479.2:p.(Arg27216His)	NC_000002.11:g.179429212C>T	VUS	2 labs	d566e6585d
10:88476505 LDB3 C>T	10	88476505	88476505	C	T	LDB3	c.1668C>T	NM_001171610.2	NP_001165081.1:p.(Cys556=)	NC_000010.10:g.88476505C>T	(Likely) benign	3 labs	d579db1cfa
8:55538697 RP1 C>T	8	55538697	55538697	C	T	RP1	c.2255C>T	NM_006269.2	NP_006260.1:p.(Thr752Met)	NC_000008.10:g.55538697C>T	(Likely) benign	2 labs	d589c754b0
8:61757805 CHD7 C>T	8	61757805	61757805	C	T	CHD7	c.5051-4C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61757805C>T	(Likely) benign	3 labs	d5948a10b9
6:32041543 TNXB G>A	6	32041543	32041543	G	A	TNXB	c.4562C>T	NM_019105.8	NP_061978.6:p.(Ala1521Val)	NC_000006.11:g.32041543G>A	(Likely) benign	3 labs	d5d1edf44e
18:28659962 DSC2 G>A	18	28659962	28659962	G	A	DSC2	c.1521-7C>T	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28659962G>A	(Likely) benign	4 labs	d5d288625b
12:990848 WNK1 C>T	12	990848	990848	C	T	WNK1	c.3892-10C>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.990848C>T	(Likely) benign	3 labs	d5f0a94d53
2:179452061 TTN C>T	2	179452061	179452061	C	T	TTN	c.63877G>A	NM_001267550.2	NP_001254479.2:p.(Asp21293Asn)	NC_000002.11:g.179452061C>T	VUS	3 labs	d627f26c83
20:42743454 JPH2 A>G	20	42743454	42743454	A	G	JPH2	c.2073T>C	NM_020433.5	NP_065166.2:p.(Phe691=)	NC_000020.10:g.42743454A>G	(Likely) benign	2 labs	d6371f5f7e
10:126097544 OAT A>G	10	126097544	126097544	A	G	OAT	c.200-10T>C	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126097544A>G	(Likely) benign	2 labs	d641db5b38
10:90701551 ACTA2 G>A	10	90701551	90701551	G	A	ACTA2	c.445C>T	NM_001141945.2	NP_001135417.1:p.(Arg149Cys)	NC_000010.10:g.90701551G>A	(Likely) pathogenic	2 labs	d65c76fc43
14:23894131 MYH7 A>G	14	23894131	23894131	A	G	MYH7	c.2526T>C	NM_000257.4	NP_000248.2:p.(Ser842=)	NC_000014.8:g.23894131A>G	(Likely) benign	4 labs	d6a08f1d59
17:56448310 RNF43 G>A	17	56448310	56448310	G	A	RNF43	c.337C>T	NM_017763.6	NP_060233.3:p.(Arg113Ter)	NC_000017.10:g.56448310G>A	(Likely) pathogenic	2 labs	d6acaf5218
15:45389524 DUOX2 C>T	15	45389524	45389524	C	T	DUOX2	c.3759G>A	NM_014080.5	NP_054799.4:p.(Pro1253=)	NC_000015.9:g.45389524C>T	(Likely) benign	2 labs	d6cdf4495b
13:103514444 ERCC5 C>T	13	103514444	103514444	C	T	ERCC5	c.945C>T	NM_000123.4	NP_000114.3:p.(His315=)	NC_000013.10:g.103514444C>T	(Likely) benign	2 labs	d6d264feeb
1:103496805 COL11A1 GAA>G	1	103496805	103496818	GAA	G	COL11A1	c.652-7_652-6del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496817_103496818del	(Likely) benign	2 labs	d6fedb05c7
X:53277370 IQSEC2 C>T	X	53277370	53277370	C	T	IQSEC2	c.2508G>A	NM_001111125.3	NP_001104595.1:p.(Ala836=)	NC_000023.10:g.53277370C>T	(Likely) benign	3 labs	d7167a49e7
7:148523541 EZH2 C>T	7	148523541	148523541	C	T	EZH2	c.907+5G>A	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148523541C>T	VUS	2 labs	d7293eb626
10:73406232 CDH23 G>A	10	73406232	73406232	G	A	CDH23	c.1307G>A	NM_022124.6	NP_071407.4:p.(Ser436Asn)	NC_000010.10:g.73406232G>A	(Likely) benign	4 labs	d7331cbf7e
1:16902844 NBPF1 G>T	1	16902844	16902844	G	T	NBPF1	c.2037C>A	NM_017940.6	NP_060410.3:p.(Asp679Glu)	NC_000001.10:g.16902844G>T	(Likely) benign	2 labs	d7531c91e2
17:41246343 BRCA1 TC>T	17	41246343	41246347	TC	T	BRCA1	c.1204del	NM_007294.4	NP_009225.1:p.(Glu402SerfsTer8)	NC_000017.10:g.41246347del	(Likely) pathogenic	2 labs	d753bbfed1
22:29091225 CHEK2 C>T	22	29091225	29091225	C	T	CHEK2	c.1265G>A	NM_007194.4	NP_009125.1:p.(Ser422Asn)	NC_000022.10:g.29091225C>T	VUS	4 labs	d765838e96
12:50501865 GPD1 C>T	12	50501865	50501865	C	T	GPD1	c.905C>T	NM_005276.4	NP_005267.2:p.(Thr302Ile)	NC_000012.11:g.50501865C>T	VUS	2 labs	d79dc6ea6f
5:67588148 PIK3R1 G>A	5	67588148	67588148	G	A	PIK3R1	c.978G>A	NM_181523.3	NP_852664.1:p.(Met326Ile)	NC_000005.9:g.67588148G>A	(Likely) benign	2 labs	d7e4060690
12:48379494 COL2A1 G>A	12	48379494	48379494	G	A	COL2A1	c.1680+17C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48379494G>A	(Likely) benign	2 labs	d7e53e9f45
9:137716440 COL5A1 C>T	9	137716440	137716440	C	T	COL5A1	c.4699-6C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137716440C>T	(Likely) benign	2 labs	d8101b3022
10:95421826 PDE6C T>C	10	95421826	95421826	T	C	PDE6C	c.2219T>C	NM_006204.4	NP_006195.3:p.(Met740Thr)	NC_000010.10:g.95421826T>C	VUS	2 labs	d818c24757
5:156665106 ITK C>T	5	156665106	156665106	C	T	ITK	c.769-13C>T	NM_005546.4	NP_005537.3:p.?	NC_000005.9:g.156665106C>T	(Likely) benign	2 labs	d819dbec72
11:75508396 DGAT2 AC>A	11	75508396	75508397	AC	A	DGAT2	c.809+20del	NM_032564.5	NP_115953.2:p.?	NC_000011.9:g.75508397del	(Likely) benign	2 labs	d826b62d32
10:18828669 CACNB2 GT>G	10	18828669	18828688	GT	G	CACNB2	c.*35del	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828688del	(Likely) benign	2 labs	d860b22607
15:52672036 MYO5A C>T	15	52672036	52672036	C	T	MYO5A	c.2082G>A	NM_000259.3	NP_000250.3:p.(Ala694=)	NC_000015.9:g.52672036C>T	(Likely) benign	2 labs	d8a715803e
22:24109550 CHCHD10 T>C	22	24109550	24109550	T	C	CHCHD10	c.261+11A>G	NM_001301339.2	NP_001288268.1:p.?	NC_000022.10:g.24109550T>C	(Likely) benign	2 labs	d8c70c1efc
X:70443982 GJB1 G>A	X	70443982	70443982	G	A	GJB1	c.425G>A	NM_000166.6	NP_000157.1:p.(Arg142Gln)	NC_000023.10:g.70443982G>A	(Likely) pathogenic	2 labs	d8c73d329c
5:149360630 SLC26A2 C>T	5	149360630	149360630	C	T	SLC26A2	c.1474C>T	NM_000112.4	NP_000103.2:p.(Arg492Trp)	NC_000005.9:g.149360630C>T	(Likely) benign	3 labs	d8f6360a1e
16:10989516 CIITA T>C	16	10989516	10989516	T	C	CIITA	c.200-10T>C	NM_000246.4	NP_000237.2:p.?	NC_000016.9:g.10989516T>C	(Likely) benign	2 labs	d8f77e8224
5:82817201 VCAN A>G	5	82817201	82817201	A	G	VCAN	c.3076A>G	NM_004385.5	NP_004376.2:p.(Ile1026Val)	NC_000005.9:g.82817201A>G	(Likely) benign	2 labs	d8fadf9659
5:180039606 FLT4 C>T	5	180039606	180039606	C	T	FLT4	c.3437G>A	NM_182925.5	NP_891555.2:p.(Arg1146His)	NC_000005.9:g.180039606C>T	(Likely) benign	2 labs	d92008e8c2
1:3319392 PRDM16 C>A	1	3319392	3319392	C	A	PRDM16	c.714C>A	NM_022114.4	NP_071397.3:p.(Leu238=)	NC_000001.10:g.3319392C>A	(Likely) benign	2 labs	d927629f20
2:152695783 CACNB4 C>T	2	152695783	152695783	C	T	CACNB4	c.855G>A	NM_001330117.2	NP_001317046.1:p.(Arg285=)	NC_000002.11:g.152695783C>T	(Likely) benign	3 labs	d9297dedc6
7:70229813 AUTS2 G>C	7	70229813	70229813	G	C	AUTS2	c.1290G>C	NM_015570.4	NP_056385.1:p.(Pro430=)	NC_000007.13:g.70229813G>C	(Likely) benign	2 labs	d93142528b
9:139393426 NOTCH1 G>A	9	139393426	139393426	G	A	NOTCH1	c.6105C>T	NM_017617.5	NP_060087.3:p.(Ala2035=)	NC_000009.11:g.139393426G>A	(Likely) benign	2 labs	d97672712a
21:45759060 CFAP410 C>T	21	45759060	45759060	C	T	CFAP410	c.18G>A	NM_001271441.2	NP_001258370.1:p.(Lys6=)	NC_000021.8:g.45759060C>T	(Likely) benign	2 labs	d9a5e61a39
11:76795953 CAPN5 C>G	11	76795953	76795953	C	G	CAPN5	c.21C>G	NM_004055.5	NP_004046.2:p.(Pro7=)	NC_000011.9:g.76795953C>G	(Likely) benign	2 labs	d9abd4d7a7
6:126080823 HEY2 G>A	6	126080823	126080823	G	A	HEY2	c.889G>A	NM_012259.3	NP_036391.1:p.(Val297Met)	NC_000006.11:g.126080823G>A	(Likely) benign	2 labs	d9abdb4393
13:32914028 BRCA2 A>G	13	32914028	32914028	A	G	BRCA2	c.5536A>G	NM_000059.4	NP_000050.3:p.(Ile1846Val)	NC_000013.10:g.32914028A>G	(Likely) benign	3 labs	d9ac033681
16:15811002 MYH11 C>G	16	15811002	15811002	C	G	MYH11	c.5520G>C	NM_001040113.2	NP_001035202.1:p.(Glu1840Asp)	NC_000016.9:g.15811002C>G	(Likely) benign	5 labs	d9b1664b0f
11:108196789 ATM C>T	11	108196789	108196789	C	T	ATM	c.6812C>T	NM_000051.4	NP_000042.3:p.(Pro2271Leu)	NC_000011.9:g.108196789C>T	VUS	2 labs	d9c84a6390
1:3319335 PRDM16 C>CCTCGTT	1	3319335	3319344	C	CCTCGTT	PRDM16	c.677-16_677-11dup	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319339_3319344dup	(Likely) benign	3 labs	da0905a080
17:41245840 BRCA1 G>C	17	41245840	41245840	G	C	BRCA1	c.1708C>G	NM_007294.4	NP_009225.1:p.(Pro570Ala)	NC_000017.10:g.41245840G>C	(Likely) benign	2 labs	da0ca64ea3
17:39919361 JUP G>A	17	39919361	39919361	G	A	JUP	c.1371C>T	NM_001352773.2	NP_001339702.1:p.(Cys457=)	NC_000017.10:g.39919361G>A	(Likely) benign	2 labs	da11005b43
11:76925703 MYO7A G>GCCATGAGCAAACAGCGGGGCT	11	76925703	76925727	G	GCCATGAGCAAACAGCGGGGCT	MYO7A	c.6614_6634dup	NM_000260.4	NP_000251.3:p.(Met2205_Ser2211dup)	NC_000011.9:g.76925707_76925727dup	(Likely) benign	3 labs	da2007fca1
5:38485971 LIFR T>C	5	38485971	38485971	T	C	LIFR	c.2447A>G	NM_001127671.2	NP_001121143.1:p.(Asp816Gly)	NC_000005.9:g.38485971T>C	(Likely) benign	3 labs	da25ea0740
19:11221354 LDLR G>A	19	11221354	11221354	G	A	LDLR	c.967G>A	NM_000527.5	NP_000518.1:p.(Gly323Ser)	NC_000019.9:g.11221354G>A	VUS	2 labs	da2d6730f6
14:64628873 SYNE2 C>T	14	64628873	64628873	C	T	SYNE2	c.16178C>T	NM_182914.3	NP_878918.2:p.(Ala5393Val)	NC_000014.8:g.64628873C>T	(Likely) benign	2 labs	da36b4290b
6:33154580 COL11A2 G>A	6	33154580	33154580	G	A	COL11A2	c.622C>T	NM_080680.3	NP_542411.2:p.(Leu208=)	NC_000006.11:g.33154580G>A	(Likely) benign	3 labs	da5002faa2
5:180041189 FLT4 C>A	5	180041189	180041189	C	A	FLT4	c.3220-10G>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180041189C>A	(Likely) benign	2 labs	da515c683c
15:42693952 CAPN3 C>T	15	42693952	42693952	C	T	CAPN3	c.1468C>T	NM_000070.3	NP_000061.1:p.(Arg490Trp)	NC_000015.9:g.42693952C>T	(Likely) pathogenic	3 labs	da69e732d5
9:137708884 COL5A1 C>T	9	137708884	137708884	C	T	COL5A1	c.4135C>T	NM_000093.5	NP_000084.3:p.(Pro1379Ser)	NC_000009.11:g.137708884C>T	(Likely) benign	2 labs	da760d6e54
9:137688701 COL5A1 A>G	9	137688701	137688701	A	G	COL5A1	c.2852A>G	NM_000093.5	NP_000084.3:p.(Asn951Ser)	NC_000009.11:g.137688701A>G	(Likely) benign	3 labs	da852b4d0e
20:57428820 GNAS A>G	20	57428820	57428820	A	G	GNAS	c.313A>G	NM_001077490.3	NP_001070958.1:p.(Thr105Ala)	NC_000020.10:g.57428820A>G	(Likely) benign	2 labs	da87623fd7
2:179604620 TTN G>A	2	179604620	179604620	G	A	TTN	c.13340C>T	NM_001267550.2	NP_001254479.2:p.(Ser4447Leu)	NC_000002.11:g.179604620G>A	VUS	2 labs	da8c1ff084
2:179440027 TTN G>A	2	179440027	179440027	G	A	TTN	c.70832C>T	NM_001267550.2	NP_001254479.2:p.(Ala23611Val)	NC_000002.11:g.179440027G>A	(Likely) benign	2 labs	dae079c39b
9:139091521 LHX3 G>A	9	139091521	139091521	G	A	LHX3	c.469+3C>T	NM_014564.5	NP_055379.1:p.?	NC_000009.11:g.139091521G>A	(Likely) benign	2 labs	dae94e5c89
15:48725121 FBN1 T>G	15	48725121	48725121	T	G	FBN1	c.6681A>C	NM_000138.5	NP_000129.3:p.(Ser2227=)	NC_000015.9:g.48725121T>G	(Likely) benign	4 labs	daecd5bbff
2:179499086 TTN C>T	2	179499086	179499086	C	T	TTN	c.42415+7G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179499086C>T	(Likely) benign	2 labs	db09dd982d
14:81610404 TSHR C>T	14	81610404	81610404	C	T	TSHR	c.2002C>T	NM_000369.5	NP_000360.2:p.(Pro668Ser)	NC_000014.8:g.81610404C>T	VUS	2 labs	db0a65a9d2
2:179640233 TTN G>A	2	179640233	179640233	G	A	TTN	c.6358C>T	NM_001267550.2	NP_001254479.2:p.(Arg2120Trp)	NC_000002.11:g.179640233G>A	VUS	2 labs	db3239917d
4:55595648 KIT C>A	4	55595648	55595648	C	A	KIT	c.2138C>A	NM_000222.3	NP_000213.1:p.(Ser713Tyr)	NC_000004.11:g.55595648C>A	VUS	2 labs	db857294c2
7:94041937 COL1A2 A>C	7	94041937	94041937	A	C	COL1A2	c.1446A>C	NM_000089.4	NP_000080.2:p.(Pro482=)	NC_000007.13:g.94041937A>C	(Likely) benign	2 labs	db9196e5ff
12:987533 WNK1 C>CT	12	987533	987548	C	CT	WNK1	c.3612+21dup	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.987548dup	(Likely) benign	2 labs	db9780966f
14:92537379 ATXN3 T>TGCTGCTGCTGCTGCTGCTGCTGC	14	92537379	92537380	T	TGCTGCTGCTGCTGCTGCTGCTGC	ATXN3	c.890_891insGCAGCAGCAGCAGCAGCAGCAGC	NM_004993.6	NP_004984.2:p.(Gln305HisfsTer34)	NC_000014.8:g.92537379_92537380insGCTGCTGCTGCTGCTGCTGCTGC	(Likely) benign	2 labs	dba80538ef
3:37067306 MLH1 G>A	3	37067306	37067306	G	A	MLH1	c.1217G>A	NM_000249.4	NP_000240.1:p.(Ser406Asn)	NC_000003.11:g.37067306G>A	(Likely) benign	5 labs	dbf51394d2
7:103202406 RELN CA>C	7	103202406	103202425	CA	C	RELN	c.5211-7del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202425del	(Likely) benign	4 labs	dbf8d59d08
8:43052839 HGSNAT A>C	8	43052839	43052839	A	C	HGSNAT	c.1567A>C	NM_152419.3	NP_689632.2:p.(Lys523Gln)	NC_000008.10:g.43052839A>C	(Likely) benign	2 labs	dc02dd41bb
5:13758990 DNAH5 G>A	5	13758990	13758990	G	A	DNAH5	c.10384C>T	NM_001369.3	NP_001360.1:p.(Gln3462Ter)	NC_000005.9:g.13758990G>A	(Likely) pathogenic	2 labs	dc0a6a27e0
11:118373319 KMT2A G>A	11	118373319	118373319	G	A	KMT2A	c.6712G>A	NM_001197104.2	NP_001184033.1:p.(Asp2238Asn)	NC_000011.9:g.118373319G>A	VUS	2 labs	dc0cc876ba
16:31196411 FUS C>T	16	31196411	31196411	C	T	FUS	c.675C>T	NM_004960.4	NP_004951.1:p.(Gly225=)	NC_000016.9:g.31196411C>T	(Likely) benign	2 labs	dc568bbfd8
20:57429782 GNAS G>A	20	57429782	57429782	G	A	GNAS	c.1462G>A	NM_080425.4	NP_536350.2:p.(Ala488Thr)	NC_000020.10:g.57429782G>A	(Likely) benign	3 labs	dc9a057e18
12:32949140 PKP2 T>C	12	32949140	32949140	T	C	PKP2	c.2392A>G	NM_004572.4	NP_004563.2:p.(Thr798Ala)	NC_000012.11:g.32949140T>C	(Likely) benign	4 labs	dcecc2b088
2:189859073 COL3A1 T>A	2	189859073	189859073	T	A	COL3A1	c.1293+15T>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859073T>A	(Likely) benign	2 labs	dd13ef06ad
14:64520020 SYNE2 A>G	14	64520020	64520020	A	G	SYNE2	c.9389A>G	NM_182914.3	NP_878918.2:p.(Asn3130Ser)	NC_000014.8:g.64520020A>G	(Likely) benign	2 labs	dd6e1e1e2f
16:88782050 PIEZO1 G>A	16	88782050	88782050	G	A	PIEZO1	c.7529C>T	NM_001142864.4	NP_001136336.2:p.(Pro2510Leu)	NC_000016.9:g.88782050G>A	(Likely) benign	3 labs	dd7e8e4b62
2:238274346 COL6A3 C>G	2	238274346	238274346	C	G	COL6A3	c.5833G>C	NM_004369.4	NP_004360.2:p.(Val1945Leu)	NC_000002.11:g.238274346C>G	VUS	2 labs	dd8d677506
11:128782112 KCNJ5 C>T	11	128782112	128782112	C	T	KCNJ5	c.937+7C>T	NM_000890.5	NP_000881.3:p.?	NC_000011.9:g.128782112C>T	(Likely) benign	2 labs	dd96b164f1
14:89310105 TTC8 TA>T	14	89310105	89310116	TA	T	TTC8	c.580-34del	NM_144596.4	NP_653197.2:p.?	NC_000014.8:g.89310116del	(Likely) benign	2 labs	dd9a4c2684
2:189861949 COL3A1 G>A	2	189861949	189861949	G	A	COL3A1	c.1815+5G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861949G>A	(Likely) benign	2 labs	dda6e3cb7b
5:32784939 NPR3 C>T	5	32784939	32784939	C	T	NPR3	c.1464C>T	NM_001204375.2	NP_001191304.1:p.(Val488=)	NC_000005.9:g.32784939C>T	(Likely) benign	2 labs	ddb883a9d5
2:179603956 TTN G>A	2	179603956	179603956	G	A	TTN	c.14004C>T	NM_001267550.2	NP_001254479.2:p.(Thr4668=)	NC_000002.11:g.179603956G>A	(Likely) benign	3 labs	ddc5dbb167
21:46898243 COL18A1 C>G	21	46898243	46898243	C	G	COL18A1	c.2469C>G	NM_130444.3	NP_569711.2:p.(Gly823=)	NC_000021.8:g.46898243C>G	(Likely) benign	2 labs	ddce961e1e
2:179410548 TTN G>T	2	179410548	179410548	G	T	TTN	c.87711C>A	NM_133378.4	NP_596869.4:p.(Phe29237Leu)	NC_000002.11:g.179410548G>T	VUS	3 labs	ddebca3ba6
X:13734171 TRAPPC2 TTCTTG>T	X	13734171	13734180	TTCTTG	T	TRAPPC2	c.271_275del	NM_001011658.4	NP_001011658.1:p.(Gln91ArgfsTer9)	NC_000023.10:g.13734176_13734180del	(Likely) pathogenic	2 labs	ddf6551907
14:76173952 TTLL5 CT>C	14	76173952	76173963	CT	C	TTLL5	c.656-3del	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76173963del	(Likely) benign	2 labs	de2cc994f0
2:179610799 TTN A>G	2	179610799	179610799	A	G	TTN	c.16328T>C	NM_133379.5	NP_596870.2:p.(Val5443Ala)	NC_000002.11:g.179610799A>G	(Likely) benign	4 labs	de39caee18
19:11105593 SMARCA4 A>G	19	11105593	11105593	A	G	SMARCA4	c.1509A>G	NM_001128844.3	NP_001122316.1:p.(Ala503=)	NC_000019.9:g.11105593A>G	(Likely) benign	2 labs	de4e48d31a
X:153641858 TAFAZZIN A>G	X	153641858	153641858	A	G	TAFAZZIN	c.324A>G	NM_000116.5	NP_000107.1:p.(Leu108=)	NC_000023.10:g.153641858A>G	(Likely) benign	3 labs	de801eab0a
5:37153929 CPLANE1 G>A	5	37153929	37153929	G	A	CPLANE1	c.8124C>T	NM_023073.4	NP_075561.3:p.(Asp2708=)	NC_000005.9:g.37153929G>A	(Likely) benign	2 labs	de83c999cc
2:21225596 APOB G>A	2	21225596	21225596	G	A	APOB	c.12698C>T	NM_000384.3	NP_000375.3:p.(Ser4233Leu)	NC_000002.11:g.21225596G>A	(Likely) benign	2 labs	de902eff3b
11:94212930 MRE11 TA>T	11	94212930	94212941	TA	T	MRE11	c.315-4del	NM_005591.4	NP_005582.1:p.?	NC_000011.9:g.94212941del	(Likely) benign	2 labs	dea2075ad3
5:146258290 PPP2R2B AGCT>A	5	146258290	146258322	AGCT	A	PPP2R2B				NC_000005.9:g.146258320_146258322del	(Likely) benign	2 labs	deafabbd97
16:68856088 CDH1 C>T	16	68856088	68856088	C	T	CDH1	c.1896C>T	NM_004360.5	NP_004351.1:p.(His632=)	NC_000016.9:g.68856088C>T	(Likely) benign	3 labs	deb7a8237c
19:38995510 RYR1 T>C	19	38995510	38995510	T	C	RYR1	c.8190T>C	NM_000540.3	NP_000531.2:p.(Asp2730=)	NC_000019.9:g.38995510T>C	(Likely) benign	2 labs	dec73e1ed8
2:179452447 TTN T>C	2	179452447	179452447	T	C	TTN	c.63589A>G	NM_001267550.2	NP_001254479.2:p.(Ile21197Val)	NC_000002.11:g.179452447T>C	(Likely) benign	3 labs	deec5e8d47
2:189875435 COL3A1 G>A	2	189875435	189875435	G	A	COL3A1	c.4073G>A	NM_000090.4	NP_000081.2:p.(Arg1358Gln)	NC_000002.11:g.189875435G>A	VUS	2 labs	def7521844
8:1806116 ARHGEF10 T>C	8	1806116	1806116	T	C	ARHGEF10	c.110-10T>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1806116T>C	(Likely) benign	3 labs	defd6325a3
1:237617879 RYR2 G>A	1	237617879	237617879	G	A	RYR2	c.1476+5G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237617879G>A	VUS	2 labs	df41b7b19e
X:41333288 NYX C>A	X	41333288	41333288	C	A	NYX	c.582C>A	NM_022567.2	NP_072089.1:p.(Ile194=)	NC_000023.10:g.41333288C>A	(Likely) benign	2 labs	df4509687a
19:42776141 CIC G>A	19	42776141	42776141	G	A	CIC	c.206G>A	NM_001304815.2	NP_001291744.1:p.(Arg69Gln)	NC_000019.9:g.42776141G>A	(Likely) benign	3 labs	df4ccd2236
9:100201522 TDRD7 C>T	9	100201522	100201522	C	T	TDRD7	c.564-5C>T	NM_014290.3	NP_055105.2:p.?	NC_000009.11:g.100201522C>T	(Likely) benign	3 labs	df5c988579
2:179553415 TTN G>A	2	179553415	179553415	G	A	TTN	c.32186C>T	NM_001267550.2	NP_001254479.2:p.(Thr10729Met)	NC_000002.11:g.179553415G>A	(Likely) benign	2 labs	df79fa6fe4
11:82444651 FAM181B C>G	11	82444651	82444651	C	G	FAM181B	c.121G>C	NM_175885.4	NP_787081.2:p.(Asp41His)	NC_000011.9:g.82444651C>G	VUS	2 labs	df7f0db55f
2:219677673 CYP27A1 G>A	2	219677673	219677673	G	A	CYP27A1	c.871G>A	NM_000784.4	NP_000775.1:p.(Glu291Lys)	NC_000002.11:g.219677673G>A	(Likely) benign	2 labs	df9b3f836a
1:114454742 DCLRE1B A>T	1	114454742	114454742	A	T	DCLRE1B	c.1528A>T	NM_022836.4	NP_073747.1:p.(Asn510Tyr)	NC_000001.10:g.114454742A>T	(Likely) benign	3 labs	dfc0a4e5aa
18:2700613 SMCHD1 A>G	18	2700613	2700613	A	G	SMCHD1	c.1419A>G	NM_015295.3	NP_056110.2:p.(Glu473=)	NC_000018.9:g.2700613A>G	(Likely) benign	2 labs	dfdc6c6b32
8:94772183 TMEM67 G>A	8	94772183	94772183	G	A	TMEM67	c.125G>A	NM_001142301.1	NP_001135773.1:p.(Cys42Tyr)	NC_000008.10:g.94772183G>A	(Likely) benign	3 labs	dff14e2888
2:238427223 MLPH G>A	2	238427223	238427223	G	A	MLPH	c.487G>A	NM_024101.7	NP_077006.1:p.(Asp163Asn)	NC_000002.11:g.238427223G>A	(Likely) benign	2 labs	e01f277f01
17:41245402 BRCA1 TG>T	17	41245402	41245404	TG	T	BRCA1	c.2145del	NM_007294.4	NP_009225.1:p.(Ser716ValfsTer20)	NC_000017.10:g.41245404del	(Likely) pathogenic	2 labs	e04c6a34b2
5:149265917 PDE6A G>C	5	149265917	149265917	G	C	PDE6A	c.1749C>G	NM_000440.3	NP_000431.2:p.(Tyr583Ter)	NC_000005.9:g.149265917G>C	(Likely) pathogenic	2 labs	e073c914f5
17:59761258 BRIP1 G>T	17	59761258	59761258	G	T	BRIP1	c.3149C>A	NM_032043.3	NP_114432.2:p.(Thr1050Asn)	NC_000017.10:g.59761258G>T	(Likely) benign	2 labs	e07927c195
11:6411935 SMPD1 TGCTGGCGCTGGCGCTGGC>T	11	6411935	6411971	TGCTGGCGCTGGCGCTGGC	T	SMPD1	c.126_143del	NM_001318087.2	NP_001305016.1:p.(Ala44_Leu49del)	NC_000011.9:g.6411954_6411971del	(Likely) benign	3 labs	e0870c98c2
17:29653037 NF1 A>G	17	29653037	29653037	A	G	NF1	c.5035A>G	NM_001042492.3	NP_001035957.1:p.(Ile1679Val)	NC_000017.10:g.29653037A>G	(Likely) benign	2 labs	e08598cf1c
X:70443748 GJB1 G>T	X	70443748	70443748	G	T	GJB1	c.191G>T	NM_000166.6	NP_000157.1:p.(Cys64Phe)	NC_000023.10:g.70443748G>T	(Likely) pathogenic	2 labs	e089e4a874
11:121466337 SORL1 G>A	11	121466337	121466337	G	A	SORL1	c.4375G>A	NM_003105.6	NP_003096.2:p.(Val1459Ile)	NC_000011.9:g.121466337G>A	(Likely) benign	2 labs	e090fcfbd5
19:10251883 DNMT1 G>A	19	10251883	10251883	G	A	DNMT1	c.3310-18C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10251883G>A	(Likely) benign	2 labs	e0996b6e02
11:17408665 KCNJ11 C>G	11	17408665	17408665	C	G	KCNJ11	c.974G>C	NM_000525.4	NP_000516.3:p.(Arg325Pro)	NC_000011.9:g.17408665C>G	VUS	3 labs	e0a27a5d90
X:100503284 DRP2 G>A	X	100503284	100503284	G	A	DRP2	c.1454+5G>A	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100503284G>A	(Likely) benign	2 labs	e0a35b6368
7:128483553 FLNC G>A	7	128483553	128483553	G	A	FLNC	c.2733G>A	NM_001458.5	NP_001449.3:p.(Lys911=)	NC_000007.13:g.128483553G>A	(Likely) benign	2 labs	e0c6379290
5:112175077 APC T>C	5	112175077	112175077	T	C	APC	c.3786T>C	NM_000038.6	NP_000029.2:p.(Tyr1262=)	NC_000005.9:g.112175077T>C	(Likely) benign	2 labs	e0c8472193
5:180055947 FLT4 C>T	5	180055947	180055947	C	T	FLT4	c.1038G>A	NM_182925.5	NP_891555.2:p.(Thr346=)	NC_000005.9:g.180055947C>T	(Likely) benign	2 labs	e0e57c4ca8
7:92146687 PEX1 G>T	7	92146687	92146687	G	T	PEX1	c.518C>A	NM_001282678.2	NP_001269607.1:p.(Ala173Asp)	NC_000007.13:g.92146687G>T	(Likely) benign	2 labs	e102a4a096
15:48703493 FBN1 G>A	15	48703493	48703493	G	A	FBN1	c.8310C>T	NM_000138.5	NP_000129.3:p.(His2770=)	NC_000015.9:g.48703493G>A	(Likely) benign	3 labs	e108b29e2e
10:75854083 VCL C>T	10	75854083	75854083	C	T	VCL	c.1407C>T	NM_014000.3	NP_054706.1:p.(Ala469=)	NC_000010.10:g.75854083C>T	(Likely) benign	3 labs	e109b81aec
17:40696181 NAGLU G>A	17	40696181	40696181	G	A	NAGLU	c.2157G>A	NM_000263.4	NP_000254.2:p.(Pro719=)	NC_000017.10:g.40696181G>A	(Likely) benign	2 labs	e113b9edf1
3:57232258 HESX1 C>T	3	57232258	57232258	C	T	HESX1	c.525G>A	NM_003865.3	NP_003856.1:p.(Ala175=)	NC_000003.11:g.57232258C>T	(Likely) benign	2 labs	e12d226324
3:193343873 OPA1 C>T	3	193343873	193343873	C	T	OPA1	c.679-8C>T	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193343873C>T	(Likely) benign	2 labs	e13064e945
2:152402515 NEB T>TAAA	2	152402515	152402532	T	TAAA	NEB	c.20467-6_20467-4dup	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402530_152402532dup	(Likely) benign	3 labs	e13f36f0aa
13:50123748 RCBTB1 C>T	13	50123748	50123748	C	T	RCBTB1	c.312G>A	NM_001352506.2	NP_001339435.1:p.(Thr104=)	NC_000013.10:g.50123748C>T	(Likely) benign	2 labs	e14dfe8c39
22:18570834 PEX26 G>A	22	18570834	18570834	G	A	PEX26	c.911G>A	NM_001127649.3	NP_001121121.1:p.(Arg304His)	NC_000022.10:g.18570834G>A	(Likely) benign	2 labs	e181305ea4
4:16008201 PROM1 G>A	4	16008201	16008201	G	A	PROM1	c.1414C>T	NM_006017.3	NP_006008.1:p.(Arg472Ter)	NC_000004.11:g.16008201G>A	(Likely) pathogenic	2 labs	e181404ffc
10:112541216 RBM20 C>T	10	112541216	112541216	C	T	RBM20	c.849C>T	NM_001134363.3	NP_001127835.2:p.(Tyr283=)	NC_000010.10:g.112541216C>T	(Likely) benign	3 labs	e1bf1bbfbb
7:124491972 POT1 C>A	7	124491972	124491972	C	A	POT1	c.903G>T	NM_015450.3	NP_056265.2:p.(Gln301His)	NC_000007.13:g.124491972C>A	(Likely) benign	4 labs	e1d7a9b8cd
5:127597445 FBN2 C>G	5	127597445	127597445	C	G	FBN2	c.8347G>C	NM_001999.4	NP_001990.2:p.(Glu2783Gln)	NC_000005.9:g.127597445C>G	(Likely) benign	2 labs	e1f5fb5579
9:135771835 TSC1 C>T	9	135771835	135771835	C	T	TSC1	c.3282G>A	NM_000368.5	NP_000359.1:p.(Glu1094=)	NC_000009.11:g.135771835C>T	(Likely) benign	2 labs	e21d60f0b3
2:179401015 TTN G>A	2	179401015	179401015	G	A	TTN	c.100459C>T	NM_001267550.2	NP_001254479.2:p.(Pro33487Ser)	NC_000002.11:g.179401015G>A	(Likely) benign	4 labs	e21e60ddb0
1:3328187 PRDM16 C>T	1	3328187	3328187	C	T	PRDM16	c.1426C>T	NM_022114.4	NP_071397.3:p.(Pro476Ser)	NC_000001.10:g.3328187C>T	(Likely) benign	2 labs	e2243a46f7
16:23637715 PALB2 G>A	16	23637715	23637715	G	A	PALB2	c.2590C>T	NM_024675.4	NP_078951.2:p.(Pro864Ser)	NC_000016.9:g.23637715G>A	(Likely) benign	6 labs	e22642d25e
5:13900321 DNAH5 G>T	5	13900321	13900321	G	T	DNAH5	c.2253C>A	NM_001369.3	NP_001360.1:p.(Asn751Lys)	NC_000005.9:g.13900321G>T	(Likely) benign	3 labs	e2306256d9
7:30671087 GARS1 T>C	7	30671087	30671087	T	C	GARS1	c.1833T>C	NM_002047.4	NP_002038.2:p.(Val611=)	NC_000007.13:g.30671087T>C	(Likely) benign	2 labs	e27a939561
17:44068928 MAPT G>A	17	44068928	44068928	G	A	MAPT	c.532G>A	NM_005910.6	NP_005901.2:p.(Ala178Thr)	NC_000017.10:g.44068928G>A	(Likely) benign	2 labs	e2ab3ecbe0
18:29100815 DSG2 A>G	18	29100815	29100815	A	G	DSG2	c.266A>G	NM_001943.5	NP_001934.2:p.(Tyr89Cys)	NC_000018.9:g.29100815A>G	(Likely) benign	5 labs	e2abecb24f
9:79820999 VPS13A AAGAAAACAGT>A	9	79820999	79821010	AAGAAAACAGT	A	VPS13A	c.385+6_385+15del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79821001_79821010del	(Likely) benign	2 labs	e2c8cd175a
21:47850036 PCNT G>A	21	47850036	47850036	G	A	PCNT	c.7803G>A	NM_006031.6	NP_006022.3:p.(Ala2601=)	NC_000021.8:g.47850036G>A	(Likely) benign	2 labs	e2d17b744c
15:89873369 POLG C>A	15	89873369	89873369	C	A	POLG	c.798G>T	NM_001126131.2	NP_001119603.1:p.(Val266=)	NC_000015.9:g.89873369C>A	(Likely) benign	3 labs	e2d27862b0
1:66087156 LEPR G>C	1	66087156	66087156	G	C	LEPR	c.2597+15G>C	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66087156G>C	(Likely) benign	2 labs	e303622120
11:108114830 ATM C>CTAT	11	108114830	108114834	C	CTAT	ATM	c.649_651dup	NM_000051.4	NP_000042.3:p.(Ile217dup)	NC_000011.9:g.108114832_108114834dup	VUS	2 labs	e3046ce165
2:179600228 TTN C>T	2	179600228	179600228	C	T	TTN	c.14935+10G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179600228C>T	(Likely) benign	2 labs	e33589f2ae
5:149497228 PDGFRB G>A	5	149497228	149497228	G	A	PDGFRB	c.3090C>T	NM_002609.4	NP_002600.1:p.(Pro1030=)	NC_000005.9:g.149497228G>A	(Likely) benign	3 labs	e324dacc5c
19:11558340 PRKCSH AGAGGAG>A	19	11558340	11558372	AGAGGAG	A	PRKCSH	c.963_968del	NM_001289103.2	NP_001276032.1:p.(Glu324_Glu325del)	NC_000019.9:g.11558367_11558372del	(Likely) benign	2 labs	e32952c21a
11:17436193 ABCC8 G>A	11	17436193	17436193	G	A	ABCC8	c.2295-36C>T	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17436193G>A	(Likely) benign	2 labs	e33d2a30b5
9:137534098 COL5A1 CGCT>C	9	137534098	137534117	CGCT	C	COL5A1	c.82_84del	NM_000093.5	NP_000084.3:p.(Leu28del)	NC_000009.11:g.137534115_137534117del	(Likely) benign	2 labs	e3413b0c30
13:32907420 BRCA2 G>GA	13	32907420	32907428	G	GA	BRCA2	c.1813dup	NM_000059.4	NP_000050.3:p.(Ile605AsnfsTer11)	NC_000013.10:g.32907428dup	(Likely) pathogenic	4 labs	e342bf4aff
19:10260150 DNMT1 G>A	19	10260150	10260150	G	A	DNMT1	c.2565C>T	NM_001130823.3	NP_001124295.1:p.(Pro855=)	NC_000019.9:g.10260150G>A	(Likely) benign	2 labs	e343df2b35
2:152727089 CACNB4 T>C	2	152727089	152727089	T	C	CACNB4	c.655A>G	NM_000726.5	NP_000717.2:p.(Met219Val)	NC_000002.11:g.152727089T>C	(Likely) benign	4 labs	e363e96069
9:111663808 ELP1 A>G	9	111663808	111663808	A	G	ELP1	c.1911T>C	NM_003640.5	NP_003631.2:p.(Val637=)	NC_000009.11:g.111663808A>G	(Likely) benign	2 labs	e37bac78a7
8:43037305 HGSNAT C>T	8	43037305	43037305	C	T	HGSNAT	c.1030C>T	NM_001363227.2	NP_001350156.1:p.(Arg344Cys)	NC_000008.10:g.43037305C>T	(Likely) pathogenic	3 labs	e3aa59f59d
4:184615879 TRAPPC11 AT>A	4	184615879	184615886	AT	A	TRAPPC11	c.2628+10del	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184615886del	(Likely) benign	2 labs	e3b2d97468
15:85400058 ALPK3 AGGATGCAGGGAGAGAAGG>A	15	85400058	85400097	AGGATGCAGGGAGAGAAGG	A	ALPK3	c.2111_2128del	NM_020778.5	NP_065829.4:p.(Met704_Gly709del)	NC_000015.9:g.85400080_85400097del	VUS	2 labs	e3c560ecb5
11:68213989 LRP5 C>T	11	68213989	68213989	C	T	LRP5	c.4574C>T	NM_002335.4	NP_002326.2:p.(Ala1525Val)	NC_000011.9:g.68213989C>T	(Likely) benign	5 labs	e3bcab725b
15:48936888 FBN1 C>T	15	48936888	48936888	C	T	FBN1	c.79G>A	NM_000138.5	NP_000129.3:p.(Ala27Thr)	NC_000015.9:g.48936888C>T	(Likely) benign	3 labs	e3c2ae3998
2:182423330 CERKL A>G	2	182423330	182423330	A	G	CERKL	c.861T>C	NM_001030311.3	NP_001025482.1:p.(Pro287=)	NC_000002.11:g.182423330A>G	(Likely) benign	2 labs	e3cbd1cf6e
12:8976358 A2ML1 C>G	12	8976358	8976358	C	G	A2ML1	c.289C>G	NM_144670.6	NP_653271.3:p.(Arg97Gly)	NC_000012.11:g.8976358C>G	(Likely) benign	3 labs	e431223b23
13:52524499 ATP7B G>A	13	52524499	52524499	G	A	ATP7B	c.2484C>T	NM_000053.4	NP_000044.2:p.(Gly828=)	NC_000013.10:g.52524499G>A	(Likely) benign	2 labs	e448137fd7
13:32910456 BRCA2 C>G	13	32910456	32910456	C	G	BRCA2	c.1964C>G	NM_000059.4	NP_000050.3:p.(Pro655Arg)	NC_000013.10:g.32910456C>G	(Likely) benign	6 labs	e45c4e955d
4:6303017 WFS1 C>T	4	6303017	6303017	C	T	WFS1	c.1495C>T	NM_006005.3	NP_005996.2:p.(Leu499Phe)	NC_000004.11:g.6303017C>T	(Likely) benign	3 labs	e468e00a79
21:47423649 COL6A1 A>G	21	47423649	47423649	A	G	COL6A1	c.2809A>G	NM_001848.3	NP_001839.2:p.(Lys937Glu)	NC_000021.8:g.47423649A>G	VUS	3 labs	e46d9dbc27
16:68716325 CDH3 G>A	16	68716325	68716325	G	A	CDH3	c.1117G>A	NM_001793.6	NP_001784.2:p.(Asp373Asn)	NC_000016.9:g.68716325G>A	(Likely) benign	2 labs	e4a5e3d161
1:94492937 ABCA4 G>A	1	94492937	94492937	G	A	ABCA4	c.4539+2064C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94492937G>A	(Likely) pathogenic	2 labs	e4be232859
12:2774863 CACNA1C C>T	12	2774863	2774863	C	T	CACNA1C	c.4515C>T	NM_000719.7	NP_000710.5:p.(Asp1505=)	NC_000012.11:g.2774863C>T	(Likely) benign	2 labs	e4d9ceeb73
7:128482883 FLNC G>A	7	128482883	128482883	G	A	FLNC	c.2425G>A	NM_001458.5	NP_001449.3:p.(Val809Met)	NC_000007.13:g.128482883G>A	VUS	3 labs	e4ecd489f0
2:15523417 NBAS A>G	2	15523417	15523417	A	G	NBAS	c.3282T>C	NM_015909.4	NP_056993.2:p.(His1094=)	NC_000002.11:g.15523417A>G	(Likely) benign	2 labs	e4ed09180c
10:69407254 CTNNA3 T>A	10	69407254	69407254	T	A	CTNNA3	c.18A>T	NM_013266.4	NP_037398.2:p.(Pro6=)	NC_000010.10:g.69407254T>A	(Likely) benign	4 labs	e500a19d09
1:94502755 ABCA4 C>T	1	94502755	94502755	C	T	ABCA4	c.3759G>A	NM_000350.3	NP_000341.2:p.(Thr1253=)	NC_000001.10:g.94502755C>T	(Likely) benign	2 labs	e52c90eadb
2:179452778 TTN C>T	2	179452778	179452778	C	T	TTN	c.63356G>A	NM_001267550.2	NP_001254479.2:p.(Cys21119Tyr)	NC_000002.11:g.179452778C>T	VUS	2 labs	e552d9d464
12:88477749 CEP290 G>A	12	88477749	88477749	G	A	CEP290	c.4705-18C>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88477749G>A	(Likely) benign	2 labs	e55e4f509e
9:136219564 SURF1 G>C	9	136219564	136219564	G	C	SURF1	c.573C>G	NM_003172.4	NP_003163.1:p.(Thr191=)	NC_000009.11:g.136219564G>C	(Likely) benign	2 labs	e58947eb24
13:21729952 SKA3 T>TAA	13	21729952	21729964	T	TAA	SKA3	c.1120-4_1120-3dup	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729963_21729964dup	(Likely) benign	2 labs	e59f87642f
7:128487934 FLNC G>A	7	128487934	128487934	G	A	FLNC	c.4456+16G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487934G>A	(Likely) benign	2 labs	e5b99db80a
7:92129015 PEX1 T>C	7	92129015	92129015	T	C	PEX1	c.2094+3A>G	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129015T>C	(Likely) benign	2 labs	e5bb23127f
X:153496125 OPN1MW2 G>A	X	153496125	153496125	G	A	OPN1MW2	c.853G>A	NM_001048181.2	NP_001041646.1:p.(Ala285Thr)	NC_000023.10:g.153496125G>A	(Likely) benign	2 labs	e5bc0e4437
11:47470355 RAPSN C>T	11	47470355	47470355	C	T	RAPSN	c.162G>A	NM_005055.5	NP_005046.2:p.(Ser54=)	NC_000011.9:g.47470355C>T	(Likely) benign	3 labs	e5c564c0c1
1:94471055 ABCA4 C>T	1	94471055	94471055	C	T	ABCA4	c.6089G>A	NM_000350.3	NP_000341.2:p.(Arg2030Gln)	NC_000001.10:g.94471055C>T	(Likely) pathogenic	4 labs	e644e1587b
X:54476198 FGD1 G>T	X	54476198	54476198	G	T	FGD1	c.2047-5C>A	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54476198G>T	(Likely) benign	2 labs	e65c0ba557
11:22297726 ANO5 CCTT>C	11	22297726	22297730	CCTT	C	ANO5	c.2503_2505del	NM_213599.3	NP_998764.1:p.(Phe835del)	NC_000011.9:g.22297728_22297730del	VUS	2 labs	e683e23078
X:49083155 CACNA1F A>G	X	49083155	49083155	A	G	CACNA1F	c.1319T>C	NM_005183.4	NP_005174.2:p.(Leu440Pro)	NC_000023.10:g.49083155A>G	(Likely) benign	2 labs	e685aa5723
2:73800411 ALMS1 C>T	2	73800411	73800411	C	T	ALMS1	c.11410C>T	NM_015120.4	NP_055935.4:p.(Pro3804Ser)	NC_000002.11:g.73800411C>T	(Likely) benign	2 labs	e6c50cecdd
3:14174102 TMEM43 G>A	3	14174102	14174102	G	A	TMEM43	c.442+7G>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174102G>A	(Likely) benign	2 labs	e6d9747cc3
10:124221276 HTRA1 G>C	10	124221276	124221276	G	C	HTRA1	c.108G>C	NM_002775.5	NP_002766.1:p.(Gly36=)	NC_000010.10:g.124221276G>C	(Likely) benign	2 labs	e6e929075d
4:126412634 FAT4 C>G	4	126412634	126412634	C	G	FAT4	c.14663C>G	NM_001291303.3	NP_001278232.1:p.(Ala4888Gly)	NC_000004.11:g.126412634C>G	(Likely) benign	3 labs	e7026ce175
6:10792040 MAK C>A	6	10792040	10792040	C	A	MAK	c.1184G>T	NM_001242957.3	NP_001229886.1:p.(Arg395Leu)	NC_000006.11:g.10792040C>A	(Likely) benign	2 labs	e706ffe437
14:24731399 TGM1 G>A	14	24731399	24731399	G	A	TGM1	c.160C>T	NM_000359.3	NP_000350.1:p.(Arg54Ter)	NC_000014.8:g.24731399G>A	(Likely) pathogenic	2 labs	e7185dfd17
19:49714732 TRPM4 C>G	19	49714732	49714732	C	G	TRPM4	c.3641-19C>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49714732C>G	(Likely) benign	2 labs	e7193f6ae1
8:31004638 WRN G>A	8	31004638	31004638	G	A	WRN	c.3453G>A	NM_000553.6	NP_000544.2:p.(Glu1151=)	NC_000008.10:g.31004638G>A	(Likely) benign	2 labs	e72b9b1cac
10:49388901 FRMPD2 C>T	10	49388901	49388901	C	T	FRMPD2	c.2735G>A	NM_001018071.4	NP_001018081.4:p.(Gly912Glu)	NC_000010.10:g.49388901C>T	(Likely) benign	2 labs	e730adcc51
1:201338977 TNNT2 AG>A	1	201338977	201338979	AG	A	TNNT2	c.68-1623del	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201338979del	(Likely) benign	2 labs	e74f99a094
15:34537471 SLC12A6 A>G	15	34537471	34537471	A	G	SLC12A6	c.1943+15T>C	NM_133647.2	NP_598408.1:p.?	NC_000015.9:g.34537471A>G	(Likely) benign	2 labs	e77daa52c2
4:6302831 WFS1 G>A	4	6302831	6302831	G	A	WFS1	c.1309G>A	NM_006005.3	NP_005996.2:p.(Gly437Ser)	NC_000004.11:g.6302831G>A	(Likely) benign	2 labs	e7b36fd92a
1:11270895 MTOR A>G	1	11270895	11270895	A	G	MTOR	c.3630T>C	NM_004958.4	NP_004949.1:p.(Asp1210=)	NC_000001.10:g.11270895A>G	(Likely) benign	2 labs	e78c3894f0
12:76741393 BBS10 A>T	12	76741393	76741393	A	T	BBS10	c.372T>A	NM_024685.4	NP_078961.3:p.(Ser124=)	NC_000012.11:g.76741393A>T	(Likely) benign	2 labs	e7a0cc55be
11:121477628 SORL1 C>T	11	121477628	121477628	C	T	SORL1	c.5023C>T	NM_003105.6	NP_003096.2:p.(Pro1675Ser)	NC_000011.9:g.121477628C>T	(Likely) benign	2 labs	e7c4d72be1
11:111897028 DLAT G>GT	11	111897028	111897045	G	GT	DLAT	c.381+22dup	NM_001931.5	NP_001922.2:p.?	NC_000011.9:g.111897045dup	(Likely) benign	3 labs	e7ccb2987f
12:40703046 LRRK2 CT>C	12	40703046	40703047	CT	C	LRRK2	c.4317+12del	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40703047del	(Likely) benign	2 labs	e7d1a6d104
1:240256105 FMN2 T>C	1	240256105	240256105	T	C	FMN2	c.696T>C	NM_001305424.2	NP_001292353.1:p.(Pro232=)	NC_000001.10:g.240256105T>C	(Likely) benign	2 labs	e7d8ffb37b
16:16253413 ABCC6 G>A	16	16253413	16253413	G	A	ABCC6	c.3319C>T	NM_001351800.1	NP_001338729.1:p.(Arg1107Cys)	NC_000016.9:g.16253413G>A	(Likely) pathogenic	2 labs	e8008f8f8d
1:3322066 PRDM16 C>T	1	3322066	3322066	C	T	PRDM16	c.1040C>T	NM_022114.4	NP_071397.3:p.(Thr347Met)	NC_000001.10:g.3322066C>T	VUS	2 labs	e826fd51eb
19:1912476 ADAT3 G>A	19	1912476	1912476	G	A	ADAT3	c.430G>A	NM_138422.4	NP_612431.2:p.(Val144Met)	NC_000019.9:g.1912476G>A	(Likely) pathogenic	2 labs	e830468441
2:220285082 DES C>T	2	220285082	220285082	C	T	DES	c.735+14C>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285082C>T	(Likely) benign	2 labs	e86b5eb84b
9:139413908 NOTCH1 C>T	9	139413908	139413908	C	T	NOTCH1	c.852G>A	NM_017617.5	NP_060087.3:p.(Pro284=)	NC_000009.11:g.139413908C>T	(Likely) benign	3 labs	e879762202
15:85411581 ALPK3 C>T	15	85411581	85411581	C	T	ALPK3	c.5012C>T	NM_020778.5	NP_065829.4:p.(Ala1671Val)	NC_000015.9:g.85411581C>T	(Likely) benign	4 labs	e888e43836
2:47709950 MSH2 C>G	2	47709950	47709950	C	G	MSH2	c.2667C>G	NM_000251.3	NP_000242.1:p.(Ser889=)	NC_000002.11:g.47709950C>G	(Likely) benign	2 labs	e88ef9a091
8:100844604 VPS13B G>T	8	100844604	100844604	G	T	VPS13B	c.9413G>T	NM_017890.5	NP_060360.3:p.(Arg3138Leu)	NC_000008.10:g.100844604G>T	(Likely) benign	2 labs	e890218a5b
12:22016004 ABCC9 GA>G	12	22016004	22016015	GA	G	ABCC9	c.2238-17del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22016015del	(Likely) benign	3 labs	e897140ebe
22:20780031 SCARF2 G>CC	22	20780031	20780031	G	CC	SCARF2	c.2247=	NM_153334.7	NP_699165.3:p.(Arg749=)	NC_000022.10:g.20780031delinsCC	(Likely) benign	3 labs	e8acdff1ec
13:103513944 ERCC5 A>G	13	103513944	103513944	A	G	ERCC5	c.760A>G	NM_000123.4	NP_000114.3:p.(Met254Val)	NC_000013.10:g.103513944A>G	(Likely) benign	2 labs	e8d02f65ec
15:91304245 BLM C>T	15	91304245	91304245	C	T	BLM	c.1642C>T	NM_000057.4	NP_000048.1:p.(Gln548Ter)	NC_000015.9:g.91304245C>T	(Likely) pathogenic	3 labs	e8dca2900a
1:92763091 GLMN C>CA	1	92763091	92763105	C	CA	GLMN	c.40-6dup	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92763105dup	(Likely) benign	2 labs	e8fbc0e050
9:137697067 COL5A1 C>A	9	137697067	137697067	C	A	COL5A1	c.3258+7C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137697067C>A	(Likely) benign	2 labs	e936201f4f
13:111130519 COL4A2 C>T	13	111130519	111130519	C	T	COL4A2	c.2587+8C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111130519C>T	(Likely) benign	2 labs	e94e50ce48
3:133698349 SLCO2A1 C>T	3	133698349	133698349	C	T	SLCO2A1	c.210G>A	NM_005630.3	NP_005621.2:p.(Ser70=)	NC_000003.11:g.133698349C>T	(Likely) benign	2 labs	e96361ec30
1:17380494 SDHB G>A	1	17380494	17380494	G	A	SDHB	c.21C>T	NM_003000.3	NP_002991.2:p.(Leu7=)	NC_000001.10:g.17380494G>A	(Likely) benign	2 labs	ea07bbf908
2:179558366 TTN T>C	2	179558366	179558366	T	C	TTN	c.31564A>G	NM_001267550.2	NP_001254479.2:p.(Ile10522Val)	NC_000002.11:g.179558366T>C	(Likely) benign	2 labs	ea2977a76f
11:6644270 DCHS1 G>A	11	6644270	6644270	G	A	DCHS1	c.8637C>T	NM_003737.4	NP_003728.1:p.(Ser2879=)	NC_000011.9:g.6644270G>A	(Likely) benign	3 labs	ea46b90fd7
15:67479738 SMAD3 G>C	15	67479738	67479738	G	C	SMAD3	c.1045G>C	NM_005902.4	NP_005893.1:p.(Ala349Pro)	NC_000015.9:g.67479738G>C	(Likely) pathogenic	2 labs	ea59b46dd6
11:61719406 BEST1 A>G	11	61719406	61719406	A	G	BEST1	c.128A>G	NM_004183.4	NP_004174.1:p.(Tyr43Cys)	NC_000011.9:g.61719406A>G	VUS	2 labs	ea5a5b8db3
4:123664109 BBS12 G>C	4	123664109	123664109	G	C	BBS12	c.1062G>C	NM_001178007.2	NP_001171478.1:p.(Val354=)	NC_000004.11:g.123664109G>C	(Likely) benign	3 labs	ea7f206ad7
11:108235880 ATM G>A	11	108235880	108235880	G	A	ATM	c.8922G>A	NM_000051.4	NP_000042.3:p.(Pro2974=)	NC_000011.9:g.108235880G>A	(Likely) benign	2 labs	ea87a30d3b
1:248059483 OR2W3 G>A	1	248059483	248059483	G	A	OR2W3	c.595G>A	NM_001001957.2	NP_001001957.2:p.(Val199Ile)	NC_000001.10:g.248059483G>A	(Likely) benign	2 labs	eab5642407
7:2577961 BRAT1 C>A	7	2577961	2577961	C	A	BRAT1	c.2208G>T	NM_152743.4	NP_689956.2:p.(Leu736=)	NC_000007.13:g.2577961C>A	(Likely) benign	3 labs	eabce990e5
2:99006213 CNGA3 A>G	2	99006213	99006213	A	G	CNGA3	c.542A>G	NM_001298.3	NP_001289.1:p.(Tyr181Cys)	NC_000002.11:g.99006213A>G	(Likely) pathogenic	2 labs	eac1032cc7
2:179511767 TTN G>GTATA	2	179511767	179511789	G	GTATA	TTN	c.40222+20_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511786_179511789dup	(Likely) benign	2 labs	eaee1832c9
3:38768211 SCN10A C>T	3	38768211	38768211	C	T	SCN10A	c.2973G>A	NM_006514.4	NP_006505.4:p.(Pro991=)	NC_000003.11:g.38768211C>T	(Likely) benign	2 labs	eb2e2205f9
3:38640450 SCN5A C>T	3	38640450	38640450	C	T	SCN5A	c.1982G>A	NM_198056.3	NP_932173.1:p.(Arg661Gln)	NC_000003.11:g.38640450C>T	VUS	2 labs	eb35956276
X:47065473 UBA1 C>G	X	47065473	47065473	C	G	UBA1	c.1702C>G	NM_003334.4	NP_003325.2:p.(Leu568Val)	NC_000023.10:g.47065473C>G	(Likely) benign	2 labs	eb41aac345
12:9020563 A2ML1 T>C	12	9020563	9020563	T	C	A2ML1	c.3843T>C	NM_144670.6	NP_653271.3:p.(Val1281=)	NC_000012.11:g.9020563T>C	(Likely) benign	2 labs	eb448fec88
6:32057130 TNXB T>C	6	32057130	32057130	T	C	TNXB	c.2385A>G	NM_019105.8	NP_061978.6:p.(Thr795=)	NC_000006.11:g.32057130T>C	(Likely) benign	2 labs	eb509e52b9
7:128494973 FLNC G>A	7	128494973	128494973	G	A	FLNC	c.7135+7G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128494973G>A	(Likely) benign	3 labs	eb884cd871
X:153592948 FLNA G>A	X	153592948	153592948	G	A	FLNA	c.1968C>T	NM_001110556.2	NP_001104026.1:p.(Leu656=)	NC_000023.10:g.153592948G>A	(Likely) benign	2 labs	eb97c0c548
11:108203470 ATM T>C	11	108203470	108203470	T	C	ATM	c.7789-19T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108203470T>C	(Likely) benign	3 labs	ebb312dd02
3:14180750 TMEM43 C>T	3	14180750	14180750	C	T	TMEM43	c.953C>T	NM_024334.3	NP_077310.1:p.(Ala318Val)	NC_000003.11:g.14180750C>T	(Likely) benign	4 labs	ebb97c5e63
2:27670507 IFT172 G>A	2	27670507	27670507	G	A	IFT172	c.4540-6C>T	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27670507G>A	(Likely) benign	4 labs	ebc39821d6
4:119652555 SEC24D G>T	4	119652555	119652555	G	T	SEC24D	c.2784C>A	NM_014822.4	NP_055637.2:p.(Phe928Leu)	NC_000004.11:g.119652555G>T	(Likely) benign	2 labs	ec2bb4d7e5
10:121436192 BAG3 C>T	10	121436192	121436192	C	T	BAG3	c.1126C>T	NM_004281.4	NP_004272.2:p.(Pro376Ser)	NC_000010.10:g.121436192C>T	VUS	2 labs	ec3db97fe6
X:49071970 CACNA1F C>G	X	49071970	49071970	C	G	CACNA1F	c.3303G>C	NM_005183.4	NP_005174.2:p.(Glu1101Asp)	NC_000023.10:g.49071970C>G	(Likely) benign	2 labs	ec5b6e6006
16:56535356 BBS2 T>C	16	56535356	56535356	T	C	BBS2	c.1134A>G	NM_031885.5	NP_114091.4:p.(Pro378=)	NC_000016.9:g.56535356T>C	(Likely) benign	3 labs	ec9b14c013
1:216172265 USH2A G>T	1	216172265	216172265	G	T	USH2A	c.6621C>A	NM_206933.4	NP_996816.3:p.(Tyr2207Ter)	NC_000001.10:g.216172265G>T	(Likely) pathogenic	2 labs	eca39f7526
16:15818144 MYH11 G>A	16	15818144	15818144	G	A	MYH11	c.4260C>T	NM_001040113.2	NP_001035202.1:p.(Ala1420=)	NC_000016.9:g.15818144G>A	(Likely) benign	3 labs	ecacb73774
22:26853897 HPS4 C>T	22	26853897	26853897	C	T	HPS4	c.1883G>A	NM_022081.6	NP_071364.4:p.(Arg628His)	NC_000022.10:g.26853897C>T	(Likely) benign	2 labs	ecb1f88d73
11:8060566 TUB G>A	11	8060566	8060566	G	A	TUB	c.146G>A	NM_003320.5	NP_003311.2:p.(Arg49Gln)	NC_000011.9:g.8060566G>A	(Likely) benign	3 labs	ecb25d1baf
7:151483605 PRKAG2 G>A	7	151483605	151483605	G	A	PRKAG2	c.137C>T	NM_016203.4	NP_057287.2:p.(Pro46Leu)	NC_000007.13:g.151483605G>A	VUS	2 labs	ecb4375dd7
11:47356654 MYBPC3 ATT>A	11	47356654	47356656	ATT	A	MYBPC3	c.2842_2843del	NM_000256.3	NP_000247.2:p.(Asn948TyrfsTer102)	NC_000011.9:g.47356655_47356656del	(Likely) pathogenic	2 labs	ecc31c5213
2:179560118 TTN A>C	2	179560118	179560118	A	C	TTN	c.31227T>G	NM_001267550.2	NP_001254479.2:p.(Val10409=)	NC_000002.11:g.179560118A>C	(Likely) benign	2 labs	ecc5489863
11:47358996 MYBPC3 TGACC>T	11	47358996	47359001	TGACC	T	MYBPC3	c.2544_2547del	NM_000256.3	NP_000247.2:p.(Val849ThrfsTer29)	NC_000011.9:g.47358998_47359001del	(Likely) pathogenic	2 labs	ed16a493d2
2:238267717 COL6A3 C>T	2	238267717	238267717	C	T	COL6A3	c.6369G>A	NM_004369.4	NP_004360.2:p.(Leu2123=)	NC_000002.11:g.238267717C>T	(Likely) benign	2 labs	ecfc994cd6
2:215610518 BARD1 C>T	2	215610518	215610518	C	T	BARD1	c.1738G>A	NM_000465.4	NP_000456.2:p.(Glu580Lys)	NC_000002.11:g.215610518C>T	(Likely) benign	4 labs	ed0a0161b6
2:219677723 CYP27A1 G>A	2	219677723	219677723	G	A	CYP27A1	c.921G>A	NM_000784.4	NP_000775.1:p.(Val307=)	NC_000002.11:g.219677723G>A	(Likely) benign	2 labs	ed17b5444e
6:123594510 TRDN T>TA	6	123594510	123594514	T	TA	TRDN	c.1598-3dup	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123594514dup	(Likely) benign	2 labs	ed1f451f5c
7:73467650 ELN CTGTGTG>C	7	73467650	73467689	CTGTGTG	C	ELN	c.1096+45_1096+50del	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467684_73467689del	(Likely) benign	2 labs	ed2425fc52
X:43817780 NDP G>A	X	43817780	43817780	G	A	NDP	c.112C>T	NM_000266.4	NP_000257.1:p.(Arg38Cys)	NC_000023.10:g.43817780G>A	(Likely) pathogenic	2 labs	ed9a5a6c32
14:102493761 DYNC1H1 A>G	14	102493761	102493761	A	G	DYNC1H1	c.8928A>G	NM_001376.5	NP_001367.2:p.(Leu2976=)	NC_000014.8:g.102493761A>G	(Likely) benign	4 labs	edb318452e
1:103380379 COL11A1 T>TA	1	103380379	103380392	T	TA	COL11A1	c.3853-13dup	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103380392dup	(Likely) benign	2 labs	edc60cead2
5:127640782 FBN2 AG>A	5	127640782	127640783	AG	A	FBN2	c.5675-9del	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640783del	(Likely) benign	2 labs	edd7e9b4c7
11:123508908 SCN3B T>C	11	123508908	123508908	T	C	SCN3B	c.570A>G	NM_018400.4	NP_060870.1:p.(Ala190=)	NC_000011.9:g.123508908T>C	(Likely) benign	3 labs	edf54212bb
1:241663902 FH T>TGA	1	241663902	241663940	T	TGA	FH	c.1237-14_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663939_241663940dup	(Likely) benign	3 labs	edfaf3bd36
3:14170944 TMEM43 C>A	3	14170944	14170944	C	A	TMEM43	c.45C>A	NM_024334.3	NP_077310.1:p.(Val15=)	NC_000003.11:g.14170944C>A	(Likely) benign	2 labs	edfca528ff
20:57484607 GNAS C>T	20	57484607	57484607	C	T	GNAS	c.691C>T	NM_000516.7	NP_000507.1:p.(Arg231Cys)	NC_000020.10:g.57484607C>T	(Likely) pathogenic	2 labs	ee01adda86
2:179412012 TTN T>C	2	179412012	179412012	T	C	TTN	c.94240A>G	NM_001267550.2	NP_001254479.2:p.(Arg31414Gly)	NC_000002.11:g.179412012T>C	VUS	4 labs	ee1d4937b0
11:123513209 SCN3B C>T	11	123513209	123513209	C	T	SCN3B	c.390G>A	NM_018400.4	NP_060870.1:p.(Ala130=)	NC_000011.9:g.123513209C>T	(Likely) benign	3 labs	ee02b6cc50
11:108168115 ATM CTA>C	11	108168115	108168117	CTA	C	ATM	c.5005+7_5005+8del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108168116_108168117del	(Likely) benign	3 labs	ee24302e43
18:19383856 MIB1 T>A	18	19383856	19383856	T	A	MIB1	c.1372-12T>A	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19383856T>A	(Likely) benign	3 labs	ee5fc96b80
6:32609279 HLA-DQA1 C>CCT	6	32609279	32609280	C	CCT	HLA-DQA1	c.275_276insCT	NM_002122.5	NP_002113.2:p.(Lys93Ter)	NC_000006.11:g.32609279_32609280insCT	(Likely) benign	2 labs	ee855dc556
2:179659682 TTN G>A	2	179659682	179659682	G	A	TTN	c.1212C>T	NM_001267550.2	NP_001254479.2:p.(Tyr404=)	NC_000002.11:g.179659682G>A	(Likely) benign	2 labs	ee8d272c72
3:100964952 IMPG2 G>T	3	100964952	100964952	G	T	IMPG2	c.1240-3C>A	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100964952G>T	VUS	2 labs	eebdd0653c
13:32911547 BRCA2 C>G	13	32911547	32911547	C	G	BRCA2	c.3055C>G	NM_000059.4	NP_000050.3:p.(Leu1019Val)	NC_000013.10:g.32911547C>G	(Likely) benign	6 labs	ee8ea4a9d1
12:57963319 KIF5A G>A	12	57963319	57963319	G	A	KIF5A	c.970G>A	NM_004984.4	NP_004975.2:p.(Ala324Thr)	NC_000012.11:g.57963319G>A	VUS	2 labs	ee91b64754
5:89977125 ADGRV1 C>T	5	89977125	89977125	C	T	ADGRV1	c.5525-7C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89977125C>T	(Likely) benign	3 labs	ee920c5d5d
12:48389485 COL2A1 G>A	12	48389485	48389485	G	A	COL2A1	c.708+8C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389485G>A	(Likely) benign	2 labs	eebd27c7f6
4:114117568 ANK2 G>A	4	114117568	114117568	G	A	ANK2	c.282G>A	NM_001386174.1	NP_001373103.1:p.(Val94=)	NC_000004.11:g.114117568G>A	(Likely) benign	3 labs	eee41e8457
12:88473019 CEP290 C>CA	12	88473019	88473029	C	CA	CEP290	c.5227-14dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88473029dup	(Likely) benign	2 labs	eeec738b0f
2:179400091 TTN T>G	2	179400091	179400091	T	G	TTN	c.101251A>C	NM_001267550.2	NP_001254479.2:p.(Asn33751His)	NC_000002.11:g.179400091T>G	VUS	3 labs	eef107ebe0
11:6648388 DCHS1 G>A	11	6648388	6648388	G	A	DCHS1	c.5882C>T	NM_003737.4	NP_003728.1:p.(Pro1961Leu)	NC_000011.9:g.6648388G>A	(Likely) benign	3 labs	ef05bc0f57
1:11082564 TARDBP C>G	1	11082564	11082564	C	G	TARDBP	c.1098C>G	NM_007375.4	NP_031401.1:p.(Ala366=)	NC_000001.10:g.11082564C>G	(Likely) benign	2 labs	ef39f286e1
8:62563658 ASPH T>G	8	62563658	62563658	T	G	ASPH	c.441A>C	NM_004318.4	NP_004309.2:p.(Ala147=)	NC_000008.10:g.62563658T>G	(Likely) benign	2 labs	ef53fa1181
2:179530470 TTN G>T	2	179530470	179530470	G	T	TTN	c.35924C>A	NM_001267550.2	NP_001254479.2:p.(Ala11975Asp)	NC_000002.11:g.179530470G>T	VUS	2 labs	ef574b6d16
7:103292224 RELN T>C	7	103292224	103292224	T	C	RELN	c.1776A>G	NM_005045.4	NP_005036.2:p.(Glu592=)	NC_000007.13:g.103292224T>C	(Likely) benign	2 labs	ef73558895
15:40488854 BUB1B TGAG>T	15	40488854	40488860	TGAG	T	BUB1B	c.1171_1173del	NM_001211.6	NP_001202.5:p.(Glu391del)	NC_000015.9:g.40488858_40488860del	VUS	2 labs	ef93b7a7e3
2:152419233 NEB C>T	2	152419233	152419233	C	T	NEB	c.18783G>A	NM_001271208.2	NP_001258137.2:p.(Gln6261=)	NC_000002.11:g.152419233C>T	(Likely) benign	2 labs	ef9533bfad
11:32452001 WT1 GGAGA>G	11	32452001	32452037	GGAGA	G	WT1	c.662-1840_662-1837del	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32452034_32452037del	(Likely) benign	2 labs	efd1dba4f6
2:179438746 TTN G>A	2	179438746	179438746	G	A	TTN	c.72113C>T	NM_001267550.2	NP_001254479.2:p.(Thr24038Met)	NC_000002.11:g.179438746G>A	(Likely) benign	5 labs	efed9b3d8d
9:418210 DOCK8 A>G	9	418210	418210	A	G	DOCK8	c.3840+3A>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.418210A>G	(Likely) benign	2 labs	f000110c3e
7:6523655 KDELR2 G>C	7	6523655	6523655	G	C	KDELR2	c.34C>G	NM_006854.4	NP_006845.1:p.(His12Asp)	NC_000007.13:g.6523655G>C	VUS	2 labs	f00015c3c3
5:13917251 DNAH5 C>T	5	13917251	13917251	C	T	DNAH5	c.1089+1G>A	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13917251C>T	(Likely) pathogenic	2 labs	f01e73af8f
17:41246433 BRCA1 C>T	17	41246433	41246433	C	T	BRCA1	c.1115G>A	NM_007294.4	NP_009225.1:p.(Trp372Ter)	NC_000017.10:g.41246433C>T	(Likely) pathogenic	2 labs	f02f30c0d0
14:23888494 MYH7 G>C	14	23888494	23888494	G	C	MYH7	c.3864C>G	NM_000257.4	NP_000248.2:p.(Ser1288=)	NC_000014.8:g.23888494G>C	(Likely) benign	4 labs	f04ca86ac3
3:129251570 RHO C>T	3	129251570	129251570	C	T	RHO	c.891C>T	NM_000539.3	NP_000530.1:p.(Ser297=)	NC_000003.11:g.129251570C>T	(Likely) benign	2 labs	f057acd191
1:171080080 FMO3 G>A	1	171080080	171080080	G	A	FMO3	c.709G>A	NM_001319173.2	NP_001306102.1:p.(Val237Met)	NC_000001.10:g.171080080G>A	(Likely) benign	2 labs	f05e6ef7fd
9:136223266 SURF1 C>T	9	136223266	136223266	C	T	SURF1	c.54+10G>A	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136223266C>T	(Likely) benign	2 labs	f0a4f6fa1c
12:111351963 MYL2 G>GAC	12	111351963	111351981	G	GAC	MYL2	c.274+25_274+26dup	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351980_111351981dup	(Likely) benign	2 labs	f0a715aa25
17:73513156 TSEN54 G>A	17	73513156	73513156	G	A	TSEN54	c.285+3G>A	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73513156G>A	(Likely) benign	2 labs	f0bf8e8a52
11:2683252 KCNQ1 C>T	11	2683252	2683252	C	T	KCNQ1	c.1455C>T	NM_000218.3	NP_000209.2:p.(Phe485=)	NC_000011.9:g.2683252C>T	(Likely) benign	2 labs	f0c80fffdf
2:179435627 TTN C>G	2	179435627	179435627	C	G	TTN	c.75232G>C	NM_001267550.2	NP_001254479.2:p.(Glu25078Gln)	NC_000002.11:g.179435627C>G	VUS	2 labs	f0d260e893
6:66205201 EYS G>A	6	66205201	66205201	G	A	EYS	c.103C>T	NM_001292009.1	NP_001278938.1:p.(Gln35Ter)	NC_000006.11:g.66205201G>A	(Likely) pathogenic	2 labs	f10f071ffc
2:167083160 SCN9A C>T	2	167083160	167083160	C	T	SCN9A	c.4282G>A	NM_002977.3	NP_002968.1:p.(Val1428Ile)	NC_000002.11:g.167083160C>T	(Likely) benign	4 labs	f113826db7
16:68847302 CDH1 G>A	16	68847302	68847302	G	A	CDH1	c.1224G>A	NM_004360.5	NP_004351.1:p.(Ala408=)	NC_000016.9:g.68847302G>A	(Likely) benign	3 labs	f1272ba633
4:6304149 WFS1 A>C	4	6304149	6304149	A	C	WFS1	c.2627A>C	NM_006005.3	NP_005996.2:p.(Lys876Thr)	NC_000004.11:g.6304149A>C	VUS	2 labs	f124a3a0ba
10:43596033 RET G>A	10	43596033	43596033	G	A	RET	c.200G>A	NM_020975.6	NP_066124.1:p.(Arg67His)	NC_000010.10:g.43596033G>A	(Likely) benign	2 labs	f13f047fb4
1:94495138 ABCA4 G>C	1	94495138	94495138	G	C	ABCA4	c.4402C>G	NM_000350.3	NP_000341.2:p.(Pro1468Ala)	NC_000001.10:g.94495138G>C	VUS	2 labs	f14a55c56f
7:73467650 ELN C>CTGTGTG	7	73467650	73467689	C	CTGTGTG	ELN	c.1096+45_1096+50dup	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467684_73467689dup	(Likely) benign	2 labs	f1aaaa409c
13:111117745 COL4A2 C>T	13	111117745	111117745	C	T	COL4A2	c.1777-7C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111117745C>T	(Likely) benign	2 labs	f1c6f2f5a5
8:31014964 WRN C>A	8	31014964	31014964	C	A	WRN	c.3900C>A	NM_000553.6	NP_000544.2:p.(Pro1300=)	NC_000008.10:g.31014964C>A	(Likely) benign	2 labs	f1c959a78d
19:39019247 RYR1 C>T	19	39019247	39019247	C	T	RYR1	c.10946C>T	NM_000540.3	NP_000531.2:p.(Ala3649Val)	NC_000019.9:g.39019247C>T	VUS	2 labs	f1d4ed27e9
10:27349299 ANKRD26 C>T	10	27349299	27349299	C	T	ANKRD26	c.1539G>A	NM_014915.3	NP_055730.2:p.(Met513Ile)	NC_000010.10:g.27349299C>T	VUS	2 labs	f1edac7afa
X:153137656 L1CAM G>A	X	153137656	153137656	G	A	L1CAM	c.351C>T	NM_000425.5	NP_000416.1:p.(Ser117=)	NC_000023.10:g.153137656G>A	(Likely) benign	2 labs	f1f83be536
12:49580192 TUBA1A A>G	12	49580192	49580192	A	G	TUBA1A	c.276T>C	NM_001270399.2	NP_001257328.1:p.(Leu92=)	NC_000012.11:g.49580192A>G	(Likely) benign	2 labs	f1f8bb0aa4
12:54675740 HNRNPA1 TTTC>T	12	54675740	54675754	TTTC	T	HNRNPA1	c.279+27_279+29del	NM_031157.4	NP_112420.1:p.?	NC_000012.11:g.54675752_54675754del	(Likely) benign	2 labs	f1fc3272bd
15:44925740 SPG11 A>C	15	44925740	44925740	A	C	SPG11	c.1698T>G	NM_025137.4	NP_079413.3:p.(Asp566Glu)	NC_000015.9:g.44925740A>C	(Likely) benign	3 labs	f25c111e18
5:138266552 CTNNA1 C>G	5	138266552	138266552	C	G	CTNNA1	c.2226C>G	NM_001903.5	NP_001894.2:p.(Val742=)	NC_000005.9:g.138266552C>G	(Likely) benign	2 labs	f27fdfea71
3:132218621 DNAJC13 G>A	3	132218621	132218621	G	A	DNAJC13	c.4385G>A	NM_015268.4	NP_056083.3:p.(Arg1462His)	NC_000003.11:g.132218621G>A	(Likely) benign	2 labs	f299c89713
7:128498535 FLNC C>T	7	128498535	128498535	C	T	FLNC	c.8136C>T	NM_001458.5	NP_001449.3:p.(Asp2712=)	NC_000007.13:g.128498535C>T	(Likely) benign	2 labs	f2a1cc44d7
9:139409120 NOTCH1 C>T	9	139409120	139409120	C	T	NOTCH1	c.2049G>A	NM_017617.5	NP_060087.3:p.(Ala683=)	NC_000009.11:g.139409120C>T	(Likely) benign	3 labs	f2a33c9313
19:10262413 DNMT1 C>T	19	10262413	10262413	C	T	DNMT1	c.2117+13G>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10262413C>T	(Likely) benign	3 labs	f2a93ea84c
3:123451932 MYLK G>A	3	123451932	123451932	G	A	MYLK	c.1327C>T	NM_053025.4	NP_444253.3:p.(Pro443Ser)	NC_000003.11:g.123451932G>A	(Likely) benign	3 labs	f2aa667145
2:219679439 CYP27A1 C>T	2	219679439	219679439	C	T	CYP27A1	c.1435C>T	NM_000784.4	NP_000775.1:p.(Arg479Cys)	NC_000002.11:g.219679439C>T	(Likely) pathogenic	2 labs	f2ba153719
3:38888354 SCN11A C>A	3	38888354	38888354	C	A	SCN11A	c.5207G>T	NM_014139.3	NP_054858.2:p.(Gly1736Val)	NC_000003.11:g.38888354C>A	(Likely) benign	3 labs	f2c8f6175e
11:116661001 APOA5 G>A	11	116661001	116661001	G	A	APOA5	c.944C>T	NM_052968.5	NP_443200.2:p.(Ala315Val)	NC_000011.9:g.116661001G>A	(Likely) pathogenic	2 labs	f2cd2deed9
21:34014283 SYNJ1 C>A	21	34014283	34014283	C	A	SYNJ1	c.3635-7G>T	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34014283C>A	(Likely) benign	2 labs	f2d02eae6c
2:15698746 NBAS G>C	2	15698746	15698746	G	C	NBAS	c.130C>G	NM_015909.4	NP_056993.2:p.(Gln44Glu)	NC_000002.11:g.15698746G>C	(Likely) benign	2 labs	f3311e2a6b
2:179628930 TTN C>T	2	179628930	179628930	C	T	TTN	c.10088G>A	NM_001267550.2	NP_001254479.2:p.(Arg3363His)	NC_000002.11:g.179628930C>T	(Likely) benign	2 labs	f3a4c26a77
2:179615553 TTN T>C	2	179615553	179615553	T	C	TTN	c.10360+2298A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179615553T>C	(Likely) benign	2 labs	f3af20e8d8
6:107780483 PDSS2 A>G	6	107780483	107780483	A	G	PDSS2	c.7T>C	NM_020381.4	NP_065114.3:p.(Phe3Leu)	NC_000006.11:g.107780483A>G	(Likely) benign	2 labs	f3ca481869
15:85411468 ALPK3 C>T	15	85411468	85411468	C	T	ALPK3	c.4899C>T	NM_020778.5	NP_065829.4:p.(Pro1633=)	NC_000015.9:g.85411468C>T	(Likely) benign	2 labs	f3f15b357c
16:23646958 PALB2 G>A	16	23646958	23646958	G	A	PALB2	c.909C>T	NM_024675.4	NP_078951.2:p.(Leu303=)	NC_000016.9:g.23646958G>A	(Likely) benign	3 labs	f400280ef3
9:26984358 IFT74 G>A	9	26984358	26984358	G	A	IFT74	c.404+5G>A	NM_001349928.2	NP_001336857.1:p.?	NC_000009.11:g.26984358G>A	VUS	2 labs	f40a6e5afd
11:2610028 KCNQ1 A>AC	11	2610028	2610034	A	AC	KCNQ1	c.1343dup	NM_000218.3	NP_000209.2:p.(Glu449ArgfsTer14)	NC_000011.9:g.2610034dup	(Likely) pathogenic	3 labs	f42b3131c6
11:5717780 TRIM22 C>T	11	5717780	5717780	C	T	TRIM22	c.318C>T	NM_006074.5	NP_006065.2:p.(Ile106=)	NC_000011.9:g.5717780C>T	(Likely) benign	2 labs	f432435e98
2:238233483 COL6A3 G>A	2	238233483	238233483	G	A	COL6A3	c.9494-26C>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238233483G>A	(Likely) benign	2 labs	f432e7faea
16:81944250 PLCG2 C>T	16	81944250	81944250	C	T	PLCG2	c.1859C>T	NM_002661.5	NP_002652.2:p.(Thr620Met)	NC_000016.9:g.81944250C>T	(Likely) benign	3 labs	f434a13952
2:212285339 ERBB4 AAAAG>A	2	212285339	212285348	AAAAG	A	ERBB4	c.2965-7_2965-4del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212285345_212285348del	(Likely) benign	2 labs	f43fe28e84
11:76922892 MYO7A C>T	11	76922892	76922892	C	T	MYO7A	c.6264C>T	NM_000260.4	NP_000251.3:p.(His2088=)	NC_000011.9:g.76922892C>T	(Likely) benign	2 labs	f476779178
12:109536395 UNG C>T	12	109536395	109536395	C	T	UNG	c.291C>T	NM_080911.3	NP_550433.1:p.(Ser97=)	NC_000012.11:g.109536395C>T	(Likely) benign	2 labs	f49374a7b8
14:73637651 PSEN1 C>T	14	73637651	73637651	C	T	PSEN1	c.234C>T	NM_000021.4	NP_000012.1:p.(Gly78=)	NC_000014.8:g.73637651C>T	(Likely) benign	2 labs	f4ad7fa31b
9:123163116 CDK5RAP2 C>T	9	123163116	123163116	C	T	CDK5RAP2	c.5355G>A	NM_018249.6	NP_060719.4:p.(Thr1785=)	NC_000009.11:g.123163116C>T	(Likely) benign	2 labs	f4b907d313
2:98994246 CNGA3 C>T	2	98994246	98994246	C	T	CNGA3	c.198C>T	NM_001298.3	NP_001289.1:p.(Thr66=)	NC_000002.11:g.98994246C>T	(Likely) benign	2 labs	f4bb61e235
X:48769149 SLC35A2 C>A	X	48769149	48769149	C	A	SLC35A2	c.6G>T	NM_001282648.2	NP_001269577.1:p.(Lys2Asn)	NC_000023.10:g.48769149C>A	(Likely) benign	2 labs	f4e236c70e
6:112439071 LAMA4 G>A	6	112439071	112439071	G	A	LAMA4	c.4852C>T	NM_001105206.3	NP_001098676.2:p.(Leu1618Phe)	NC_000006.11:g.112439071G>A	(Likely) benign	3 labs	f519621818
17:41226387 BRCA1 C>T	17	41226387	41226387	C	T	BRCA1	c.4636G>A	NM_007294.4	NP_009225.1:p.(Asp1546Asn)	NC_000017.10:g.41226387C>T	(Likely) benign	6 labs	f55071fa3c
4:6302618 WFS1 C>T	4	6302618	6302618	C	T	WFS1	c.1096C>T	NM_006005.3	NP_005996.2:p.(Gln366Ter)	NC_000004.11:g.6302618C>T	(Likely) pathogenic	2 labs	f55e2ab14e
11:62469965 BSCL2 G>A	11	62469965	62469965	G	A	BSCL2	c.461C>T	NM_001122955.4	NP_001116427.1:p.(Ser154Leu)	NC_000011.9:g.62469965G>A	(Likely) pathogenic	2 labs	f57314fb1b
8:133931735 TG C>T	8	133931735	133931735	C	T	TG	c.4493C>T	NM_003235.5	NP_003226.4:p.(Thr1498Met)	NC_000008.10:g.133931735C>T	(Likely) benign	2 labs	f5c6e21bef
8:133492610 KCNQ3 A>G	8	133492610	133492610	A	G	KCNQ3	c.170T>C	NM_004519.4	NP_004510.1:p.(Leu57Pro)	NC_000008.10:g.133492610A>G	VUS	2 labs	f5e37915b7
12:40681352 LRRK2 T>TA	12	40681352	40681361	T	TA	LRRK2	c.2689+20dup	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40681361dup	(Likely) benign	2 labs	f606814e7d
19:38965952 RYR1 T>C	19	38965952	38965952	T	C	RYR1	c.4161-6T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38965952T>C	(Likely) benign	2 labs	f611ddc40f
5:147211105 SPINK1 C>G	5	147211105	147211105	C	G	SPINK1	c.36G>C	NM_003122.5	NP_003113.2:p.(Leu12Phe)	NC_000005.9:g.147211105C>G	(Likely) benign	2 labs	f6320c9a5d
1:241682970 FH G>A	1	241682970	241682970	G	A	FH	c.53C>T	NM_000143.4	NP_000134.2:p.(Pro18Leu)	NC_000001.10:g.241682970G>A	(Likely) benign	3 labs	f651b760ad
16:88782074 PIEZO1 T>C	16	88782074	88782074	T	C	PIEZO1	c.7505A>G	NM_001142864.4	NP_001136336.2:p.(Lys2502Arg)	NC_000016.9:g.88782074T>C	(Likely) benign	2 labs	f727e7c4c7
2:179455631 TTN G>A	2	179455631	179455631	G	A	TTN	c.60821C>T	NM_001267550.2	NP_001254479.2:p.(Pro20274Leu)	NC_000002.11:g.179455631G>A	(Likely) benign	5 labs	f72f3be199
10:18828181 CACNB2 C>T	10	18828181	18828181	C	T	CACNB2	c.1346C>T	NM_000724.4	NP_000715.2:p.(Thr449Ile)	NC_000010.10:g.18828181C>T	(Likely) benign	2 labs	f75ed099ab
18:21121375 NPC1 G>A	18	21121375	21121375	G	A	NPC1	c.2268C>T	NM_000271.5	NP_000262.2:p.(Ala756=)	NC_000018.9:g.21121375G>A	(Likely) benign	2 labs	f764575437
7:91603115 AKAP9 C>T	7	91603115	91603115	C	T	AKAP9	c.139C>T	NM_005751.5	NP_005742.4:p.(His47Tyr)	NC_000007.13:g.91603115C>T	(Likely) benign	3 labs	f7a2d14b28
12:2717661 CACNA1C C>A	12	2717661	2717661	C	A	CACNA1C	c.3417-16C>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2717661C>A	(Likely) benign	2 labs	f7c47e7faf
1:112322941 KCND3 T>TA	1	112322941	112322948	T	TA	KCND3	c.1372-6dup	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112322948dup	(Likely) benign	2 labs	f7defd28d2
8:48885552 MCM4 G>A	8	48885552	48885552	G	A	MCM4	c.2064G>A	NM_005914.4	NP_005905.2:p.(Lys688=)	NC_000008.10:g.48885552G>A	(Likely) benign	3 labs	f7e0e6bdd5
9:35057129 VCP A>G	9	35057129	35057129	A	G	VCP	c.2406T>C	NM_007126.5	NP_009057.1:p.(Asp802=)	NC_000009.11:g.35057129A>G	(Likely) benign	2 labs	f801a61eea
19:50720949 MYH14 G>A	19	50720949	50720949	G	A	MYH14	c.483G>A	NM_001145809.2	NP_001139281.1:p.(Met161Ile)	NC_000019.9:g.50720949G>A	(Likely) benign	2 labs	f80378c6e1
3:38592312 SCN5A T>C	3	38592312	38592312	T	C	SCN5A	c.5551A>G	NM_198056.3	NP_932173.1:p.(Met1851Val)	NC_000003.11:g.38592312T>C	(Likely) pathogenic	2 labs	f814ded82c
10:55566583 PCDH15 G>GA	10	55566583	55566587	G	GA	PCDH15	c.4804dup	NM_001142771.2	NP_001136243.1:p.(Ser1602PhefsTer3)	NC_000010.10:g.55566587dup	VUS	2 labs	f8492aa400
11:63987200 FERMT3 G>C	11	63987200	63987200	G	C	FERMT3	c.1030-12G>C	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63987200G>C	(Likely) benign	2 labs	f84e2634af
8:61778288 CHD7 C>T	8	61778288	61778288	C	T	CHD7	c.8790C>T	NM_017780.4	NP_060250.2:p.(Ala2930=)	NC_000008.10:g.61778288C>T	(Likely) benign	2 labs	f873adaf49
17:41246039 BRCA1 CTTTAA>C	17	41246039	41246048	CTTTAA	C	BRCA1	c.1504_1508del	NM_007294.4	NP_009225.1:p.(Leu502AlafsTer2)	NC_000017.10:g.41246044_41246048del	(Likely) pathogenic	3 labs	f87fbef8b7
14:45605463 FANCM A>G	14	45605463	45605463	A	G	FANCM	c.229A>G	NM_020937.4	NP_065988.1:p.(Thr77Ala)	NC_000014.8:g.45605463A>G	(Likely) benign	2 labs	f8ba1cd566
2:179560911 TTN T>C	2	179560911	179560911	T	C	TTN	c.30888A>G	NM_001267550.2	NP_001254479.2:p.(Lys10296=)	NC_000002.11:g.179560911T>C	(Likely) benign	2 labs	f90ab1c050
12:2794977 CACNA1C G>A	12	2794977	2794977	G	A	CACNA1C	c.5649G>A	NM_000719.7	NP_000710.5:p.(Pro1883=)	NC_000012.11:g.2794977G>A	(Likely) benign	3 labs	f90b296c80
6:32041661 TNXB C>T	6	32041661	32041661	C	T	TNXB	c.4444G>A	NM_019105.8	NP_061978.6:p.(Val1482Met)	NC_000006.11:g.32041661C>T	(Likely) benign	2 labs	f911587aa3
2:179435693 TTN C>T	2	179435693	179435693	C	T	TTN	c.75166G>A	NM_001267550.2	NP_001254479.2:p.(Ala25056Thr)	NC_000002.11:g.179435693C>T	VUS	2 labs	f94b3f114d
X:118604006 SLC25A5 A>G	X	118604006	118604006	A	G	SLC25A5	c.494A>G	NM_001152.5	NP_001143.2:p.(Tyr165Cys)	NC_000023.10:g.118604006A>G	(Likely) benign	2 labs	f952958662
11:118376816 KMT2A G>A	11	118376816	118376816	G	A	KMT2A	c.10209G>A	NM_001197104.2	NP_001184033.1:p.(Pro3403=)	NC_000011.9:g.118376816G>A	(Likely) benign	2 labs	f9815189af
2:179441014 TTN ACTTTTTGATG>A	2	179441014	179441026	ACTTTTTGATG	A	TTN	c.69835_69844del	NM_001267550.2	NP_001254479.2:p.(His23279Ter)	NC_000002.11:g.179441017_179441026del	(Likely) pathogenic	2 labs	f997105912
6:152771849 SYNE1 G>A	6	152771849	152771849	G	A	SYNE1	c.3306C>T	NM_182961.4	NP_892006.3:p.(His1102=)	NC_000006.11:g.152771849G>A	(Likely) benign	2 labs	f998029f22
18:77455261 CTDP1 G>A	18	77455261	77455261	G	A	CTDP1	c.351G>A	NM_004715.5	NP_004706.3:p.(Pro117=)	NC_000018.9:g.77455261G>A	(Likely) benign	2 labs	f9cb52ba06
X:153580753 FLNA C>T	X	153580753	153580753	C	T	FLNA	c.6541G>A	NM_001456.4	NP_001447.2:p.(Glu2181Lys)	NC_000023.10:g.153580753C>T	VUS	2 labs	f9dea5e345
11:47362773 MYBPC3 C>T	11	47362773	47362773	C	T	MYBPC3	c.1813G>A	NM_000256.3	NP_000247.2:p.(Asp605Asn)	NC_000011.9:g.47362773C>T	VUS	2 labs	f9e0eb332e
14:23872944 MYH6 G>A	14	23872944	23872944	G	A	MYH6	c.779C>T	NM_002471.4	NP_002462.2:p.(Ala260Val)	NC_000014.8:g.23872944G>A	VUS	3 labs	fa1e2de5aa
4:41748013 PHOX2B CGCCGCCGCTGCCGCG>C	4	41748013	41748036	CGCCGCCGCTGCCGCG	C	PHOX2B	c.741_755del	NM_003924.4	NP_003915.2:p.(Ala256_Ala260del)	NC_000004.11:g.41748022_41748036del	(Likely) benign	2 labs	fa20588a52
2:112766060 MERTK C>T	2	112766060	112766060	C	T	MERTK	c.1960+8C>T	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112766060C>T	(Likely) benign	2 labs	fa21fe9568
7:100855215 PLOD3 C>G	7	100855215	100855215	C	G	PLOD3	c.1144G>C	NM_001084.5	NP_001075.1:p.(Asp382His)	NC_000007.13:g.100855215C>G	(Likely) benign	2 labs	fa28031df1
17:79495606 FSCN2 G>A	17	79495606	79495606	G	A	FSCN2	c.49G>A	NM_001077182.3	NP_001070650.1:p.(Val17Ile)	NC_000017.10:g.79495606G>A	(Likely) benign	2 labs	fa2bfd40c4
2:238296751 COL6A3 G>A	2	238296751	238296751	G	A	COL6A3	c.786C>T	NM_004369.4	NP_004360.2:p.(Leu262=)	NC_000002.11:g.238296751G>A	(Likely) benign	3 labs	fa4269380b
14:88903897 SPATA7 C>T	14	88903897	88903897	C	T	SPATA7	c.1171C>T	NM_018418.5	NP_060888.2:p.(Arg391Ter)	NC_000014.8:g.88903897C>T	(Likely) pathogenic	2 labs	fa4e6b21b9
17:56283881 MKS1 G>A	17	56283881	56283881	G	A	MKS1	c.1435C>T	NM_017777.4	NP_060247.2:p.(Arg479Cys)	NC_000017.10:g.56283881G>A	(Likely) benign	3 labs	fac7abd586
15:23892665 MAGEL2 C>T	15	23892665	23892665	C	T	MAGEL2	c.225G>A	NM_019066.5	NP_061939.3:p.(Pro75=)	NC_000015.9:g.23892665C>T	(Likely) benign	3 labs	fad8286295
2:179452021 TTN C>T	2	179452021	179452021	C	T	TTN	c.63917G>A	NM_001267550.2	NP_001254479.2:p.(Arg21306His)	NC_000002.11:g.179452021C>T	(Likely) benign	2 labs	fb2e561e3e
20:6751006 BMP2 A>G	20	6751006	6751006	A	G	BMP2	c.233A>G	NM_001200.4	NP_001191.1:p.(Tyr78Cys)	NC_000020.10:g.6751006A>G	VUS	2 labs	fb3ccd34e6
22:29885861 NEFH T>C	22	29885861	29885861	T	C	NEFH	c.2232T>C	NM_021076.4	NP_066554.2:p.(Ala744=)	NC_000022.10:g.29885861T>C	(Likely) benign	3 labs	fb57d73bc3
19:36211461 KMT2B G>A	19	36211461	36211461	G	A	KMT2B	c.1212G>A	NM_014727.3	NP_055542.1:p.(Pro404=)	NC_000019.9:g.36211461G>A	(Likely) benign	2 labs	fb71989a79
15:48787352 FBN1 G>A	15	48787352	48787352	G	A	FBN1	c.2645C>T	NM_000138.5	NP_000129.3:p.(Ala882Val)	NC_000015.9:g.48787352G>A	(Likely) pathogenic	2 labs	fb8320250d
4:6303849 WFS1 A>T	4	6303849	6303849	A	T	WFS1	c.2327A>T	NM_006005.3	NP_005996.2:p.(Glu776Val)	NC_000004.11:g.6303849A>T	(Likely) benign	4 labs	fbd63f1e61
14:23895254 MYH7 C>T	14	23895254	23895254	C	T	MYH7	c.2081G>A	NM_000257.4	NP_000248.2:p.(Arg694His)	NC_000014.8:g.23895254C>T	(Likely) pathogenic	4 labs	fc28871e54
20:42814996 JPH2 C>T	20	42814996	42814996	C	T	JPH2	c.350G>A	NM_020433.5	NP_065166.2:p.(Gly117Asp)	NC_000020.10:g.42814996C>T	VUS	2 labs	fc4240d94e
17:42429839 GRN G>C	17	42429839	42429839	G	C	GRN	c.1544G>C	NM_002087.4	NP_002078.1:p.(Gly515Ala)	NC_000017.10:g.42429839G>C	(Likely) benign	3 labs	fc2b6f5255
6:129824402 LAMA2 A>G	6	129824402	129824402	A	G	LAMA2	c.8524A>G	NM_000426.4	NP_000417.3:p.(Ile2842Val)	NC_000006.11:g.129824402A>G	VUS	2 labs	fc36578fd4
2:179399361 TTN G>T	2	179399361	179399361	G	T	TTN	c.101981C>A	NM_001267550.2	NP_001254479.2:p.(Thr33994Lys)	NC_000002.11:g.179399361G>T	VUS	2 labs	fc3cf542b0
20:47991468 KCNB1 G>A	20	47991468	47991468	G	A	KCNB1	c.629C>T	NM_004975.4	NP_004966.1:p.(Thr210Met)	NC_000020.10:g.47991468G>A	(Likely) pathogenic	2 labs	fc4f028bc9
1:186057871 HMCN1 C>T	1	186057871	186057871	C	T	HMCN1	c.9711C>T	NM_031935.3	NP_114141.2:p.(Tyr3237=)	NC_000001.10:g.186057871C>T	(Likely) benign	2 labs	fcaf1bc10c
2:179434746 TTN T>C	2	179434746	179434746	T	C	TTN	c.76113A>G	NM_001267550.2	NP_001254479.2:p.(Glu25371=)	NC_000002.11:g.179434746T>C	(Likely) benign	2 labs	fcb436fd59
1:201338976 TNNT2 G>A	1	201338976	201338976	G	A	TNNT2	c.68-1621C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201338976G>A	(Likely) benign	2 labs	fcbca415ec
14:23862646 MYH6 C>A	14	23862646	23862646	C	A	MYH6	c.3010G>T	NM_002471.4	NP_002462.2:p.(Ala1004Ser)	NC_000014.8:g.23862646C>A	(Likely) benign	5 labs	fcc7114f23
3:38598669 SCN5A A>G	3	38598669	38598669	A	G	SCN5A	c.4299+53T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38598669A>G	(Likely) benign	2 labs	fd037aa096
12:9000147 A2ML1 T>G	12	9000147	9000147	T	G	A2ML1	c.1686T>G	NM_144670.6	NP_653271.3:p.(Val562=)	NC_000012.11:g.9000147T>G	(Likely) benign	2 labs	fd577ac50f
12:48375585 COL2A1 CA>C	12	48375585	48375586	CA	C	COL2A1	c.2382del	NM_001844.5	NP_001835.3:p.(Gly795AlafsTer86)	NC_000012.11:g.48375586del	(Likely) pathogenic	2 labs	fd7a0f5883
10:69934012 MYPN C>A	10	69934012	69934012	C	A	MYPN	c.1281C>A	NM_001256268.2	NP_001243197.1:p.(Ala427=)	NC_000010.10:g.69934012C>A	(Likely) benign	3 labs	fd5b19cddf
4:25160732 SEPSECS T>TAA	4	25160732	25160747	T	TAA	SEPSECS	c.115-5_115-4dup	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25160746_25160747dup	(Likely) benign	3 labs	fd708d7a3d
1:116941613 ATP1A1 C>T	1	116941613	116941613	C	T	ATP1A1	c.2355C>T	NM_001160233.2	NP_001153705.1:p.(Pro785=)	NC_000001.10:g.116941613C>T	(Likely) benign	2 labs	fd7f27524a
7:103123429 RELN C>T	7	103123429	103123429	C	T	RELN	c.10182-11G>A	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103123429C>T	(Likely) benign	3 labs	fd890e3830
8:11566283 GATA4 C>T	8	11566283	11566283	C	T	GATA4	c.462C>T	NM_001308093.3	NP_001295022.1:p.(Phe154=)	NC_000008.10:g.11566283C>T	(Likely) benign	4 labs	fdaf40c5dd
6:110053820 FIG4 C>CT	6	110053820	110053823	C	CT	FIG4	c.447-17dup	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110053823dup	(Likely) benign	2 labs	fdaf48456b
5:89938443 ADGRV1 A>T	5	89938443	89938443	A	T	ADGRV1	c.2241-10A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938443A>T	(Likely) benign	2 labs	fdb0142748
20:32000462 SNTA1 C>T	20	32000462	32000462	C	T	SNTA1	c.828G>A	NM_003098.3	NP_003089.1:p.(Lys276=)	NC_000020.10:g.32000462C>T	(Likely) benign	2 labs	fdcaa44464
10:12148259 DHTKD1 A>C	10	12148259	12148259	A	C	DHTKD1	c.1911A>C	NM_018706.7	NP_061176.4:p.(Pro637=)	NC_000010.10:g.12148259A>C	(Likely) benign	2 labs	fde3b78a05
7:128498578 FLNC A>G	7	128498578	128498578	A	G	FLNC	c.*1A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498578A>G	(Likely) benign	2 labs	fde3ef3413
15:67457584 SMAD3 C>T	15	67457584	67457584	C	T	SMAD3	c.401-7C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457584C>T	(Likely) benign	2 labs	fde9c92107
6:75814950 COL12A1 A>G	6	75814950	75814950	A	G	COL12A1	c.8237T>C	NM_004370.6	NP_004361.3:p.(Val2746Ala)	NC_000006.11:g.75814950A>G	(Likely) benign	2 labs	fdfd44aa3f
3:81810702 GBE1 A>AG	3	81810702	81810704	A	AG	GBE1	c.-35dup	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81810704dup	(Likely) benign	2 labs	fe6dbd4b1a
12:48368464 COL2A1 G>A	12	48368464	48368464	G	A	COL2A1	c.4068C>T	NM_001844.5	NP_001835.3:p.(Gly1356=)	NC_000012.11:g.48368464G>A	(Likely) benign	3 labs	fe855771b9
22:26861514 HPS4 G>A	22	26861514	26861514	G	A	HPS4	c.710C>T	NM_022081.6	NP_071364.4:p.(Ala237Val)	NC_000022.10:g.26861514G>A	(Likely) benign	2 labs	fe8c273345
17:40690745 NAGLU G>C	17	40690745	40690745	G	C	NAGLU	c.736G>C	NM_000263.4	NP_000254.2:p.(Ala246Pro)	NC_000017.10:g.40690745G>C	VUS	2 labs	fe98e5625f
11:108138002 ATM A>AT	11	108138002	108138005	A	AT	ATM	c.2574dup	NM_000051.4	NP_000042.3:p.(Asn859Ter)	NC_000011.9:g.108138005dup	(Likely) pathogenic	3 labs	fe8a91c801
2:27545358 MPV17 C>A	2	27545358	27545358	C	A	MPV17	c.27G>T	NM_002437.5	NP_002428.1:p.(Arg9=)	NC_000002.11:g.27545358C>A	(Likely) benign	2 labs	feb850e7bc
9:133960972 LAMC3 C>T	9	133960972	133960972	C	T	LAMC3	c.4092C>T	NM_006059.4	NP_006050.3:p.(Ser1364=)	NC_000009.11:g.133960972C>T	(Likely) benign	2 labs	fef30805f4
2:179583582 TTN G>A	2	179583582	179583582	G	A	TTN	c.24345C>T	NM_001267550.2	NP_001254479.2:p.(Ser8115=)	NC_000002.11:g.179583582G>A	(Likely) benign	4 labs	fef55b3369
8:10464561 RP1L1 A>G	8	10464561	10464561	A	G	RP1L1	c.7047T>C	NM_178857.6	NP_849188.4:p.(Thr2349=)	NC_000008.10:g.10464561A>G	(Likely) benign	3 labs	fef7b8667f
18:21140367 NPC1 G>A	18	21140367	21140367	G	A	NPC1	c.709C>T	NM_000271.5	NP_000262.2:p.(Pro237Ser)	NC_000018.9:g.21140367G>A	(Likely) benign	2 labs	ff187cbf2b
10:79741937 POLR3A C>T	10	79741937	79741937	C	T	POLR3A	c.3734G>A	NM_007055.4	NP_008986.2:p.(Arg1245Gln)	NC_000010.10:g.79741937C>T	(Likely) benign	4 labs	ff27e93b89
10:43606856 RET G>A	10	43606856	43606856	G	A	RET	c.1465G>A	NM_020975.6	NP_066124.1:p.(Asp489Asn)	NC_000010.10:g.43606856G>A	(Likely) benign	2 labs	ff30e63b3d
2:179644888 TTN G>A	2	179644888	179644888	G	A	TTN	c.3568C>T	NM_133378.4	NP_596869.4:p.(Gln1190Ter)	NC_000002.11:g.179644888G>A	(Likely) pathogenic	2 labs	ff31a56ffb
19:35524942 SCN1B A>G	19	35524942	35524942	A	G	SCN1B	c.747A>G	NM_199037.5	NP_950238.1:p.(Gln249=)	NC_000019.9:g.35524942A>G	(Likely) benign	2 labs	ff3d1f647d
7:128498572 FLNC C>A	7	128498572	128498572	C	A	FLNC	c.8173C>A	NM_001458.5	NP_001449.3:p.(Pro2725Thr)	NC_000007.13:g.128498572C>A	VUS	2 labs	ff44661916
2:179425611 TTN T>A	2	179425611	179425611	T	A	TTN	c.85248A>T	NM_001267550.2	NP_001254479.2:p.(Thr28416=)	NC_000002.11:g.179425611T>A	(Likely) benign	2 labs	ff617258a9
14:102452669 DYNC1H1 G>A	14	102452669	102452669	G	A	DYNC1H1	c.2107G>A	NM_001376.5	NP_001367.2:p.(Ala703Thr)	NC_000014.8:g.102452669G>A	VUS	2 labs	ff7a82bf8f
10:73768152 CHST3 C>G	10	73768152	73768152	C	G	CHST3	c.1363C>G	NM_004273.5	NP_004264.2:p.(Leu455Val)	NC_000010.10:g.73768152C>G	(Likely) benign	2 labs	ffe2f71b06
8:117868531 RAD21 T>TA	8	117868531	117868554	T	TA	RAD21	c.815-5dup	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868554dup	(Likely) benign	2 labs	369ed522a3
6:157099981 ARID1B G>GGGC	6	157099981	157100007	G	GGGC	ARID1B	c.1191_1193dup	NM_001371656.1	NP_001358585.1:p.(Gly402dup)	NC_000006.11:g.157100005_157100007dup	(Likely) benign	2 labs	a8efb7380c
16:31202698 FUS A>AT	16	31202698	31202715	A	AT	FUS	c.1542-5dup	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31202715dup	(Likely) benign	2 labs	55be89465e
8:61693942 CHD7 G>GAAAGCA	8	61693942	61693951	G	GAAAGCA	CHD7	c.2053_2058dup	NM_017780.4	NP_060250.2:p.(Ala685_Lys686dup)	NC_000008.10:g.61693946_61693951dup	(Likely) benign	5 labs	5a9584c699
22:51063610 ARSA C>T	22	51063610	51063610	C	T	ARSA	c.1493G>A	NM_000487.6	NP_000478.3:p.(Arg498His)	NC_000022.10:g.51063610C>T	(Likely) benign	4 labs	d973e1f6f9
10:121435955 BAG3 A>C	10	121435955	121435955	A	C	BAG3	c.910-21A>C	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121435955A>C	(Likely) benign	2 labs	4093426a44
1:173819546 DARS2 G>T	1	173819546	173819546	G	T	DARS2	c.1273G>T	NM_018122.5	NP_060592.2:p.(Glu425Ter)	NC_000001.10:g.173819546G>T	(Likely) pathogenic	2 labs	16f1892eec
1:116245571 CASQ2 G>A	1	116245571	116245571	G	A	CASQ2	c.985C>T	NM_001232.4	NP_001223.2:p.(Pro329Ser)	NC_000001.10:g.116245571G>A	VUS	2 labs	27977ca90b
2:182423344 CERKL G>A	2	182423344	182423344	G	A	CERKL	c.847C>T	NM_001030311.2	NP_001025482.1:p.(Arg283Ter)	NC_000002.11:g.182423344G>A	(Likely) pathogenic	2 labs	6a491806a8
13:32954022 BRCA2 C>CA	13	32954022	32954030	C	CA	BRCA2	c.9097dup	NM_000059.4	NP_000050.3:p.(Thr3033AsnfsTer11)	NC_000013.10:g.32954030dup	(Likely) pathogenic	4 labs	3166d26664
9:139401216 NOTCH1 C>T	9	139401216	139401216	C	T	NOTCH1	c.3853G>A	NM_017617.5	NP_060087.3:p.(Val1285Met)	NC_000009.11:g.139401216C>T	VUS	2 labs	0207b3a7af
11:65639462 EFEMP2 G>A	11	65639462	65639462	G	A	EFEMP2	c.139C>T	NM_016938.5	NP_058634.4:p.(Pro47Ser)	NC_000011.9:g.65639462G>A	(Likely) benign	2 labs	6f7d8a2c92
7:128475581 FLNC G>A	7	128475581	128475581	G	A	FLNC	c.554G>A	NM_001458.5	NP_001449.3:p.(Trp185Ter)	NC_000007.13:g.128475581G>A	(Likely) pathogenic	2 labs	40ac6965bc
X:153296860 MECP2 G>A	X	153296860	153296860	G	A	MECP2	c.419C>T	NM_004992.4	NP_004983.1:p.(Ala140Val)	NC_000023.10:g.153296860G>A	(Likely) pathogenic	3 labs	1680d93d52
11:2594170 KCNQ1 G>A	11	2594170	2594170	G	A	KCNQ1	c.875G>A	NM_000218.3	NP_000209.2:p.(Gly292Asp)	NC_000011.9:g.2594170G>A	VUS	3 labs	f30c2f7b03
1:156104642 LMNA T>C	1	156104642	156104642	T	C	LMNA	c.686T>C	NM_170707.4	NP_733821.1:p.(Ile229Thr)	NC_000001.10:g.156104642T>C	(Likely) pathogenic	2 labs	b15628febb
11:119216272 MFRP TG>T	11	119216272	119216279	TG	T	MFRP	c.498del	NM_031433.4	NP_113621.1:p.(Asn167ThrfsTer25)	NC_000011.9:g.119216279del	(Likely) pathogenic	2 labs	53b4b78de7
11:47367848 MYBPC3 C>A	11	47367848	47367848	C	A	MYBPC3	c.1000G>T	NM_000256.3	NP_000247.2:p.(Glu334Ter)	NC_000011.9:g.47367848C>A	(Likely) pathogenic	3 labs	2d8f435c71
17:56774206 RAD51C AAC>A	17	56774206	56774211	AAC	A	RAD51C	c.561_562del	NM_058216.3	NP_478123.1:p.(His187GlnfsTer15)	NC_000017.10:g.56774210_56774211del	(Likely) pathogenic	2 labs	d55e667bb6
11:47363542 MYBPC3 C>T	11	47363542	47363542	C	T	MYBPC3	c.1790G>A	NM_000256.3	NP_000247.2:p.(Arg597Gln)	NC_000011.9:g.47363542C>T	(Likely) pathogenic	3 labs	ed75b15fd7
15:28326857 OCA2 GC>G	15	28326857	28326863	GC	G	OCA2	c.163del	NM_000275.3	NP_000266.2:p.(Ala55LeufsTer47)	NC_000015.9:g.28326863del	(Likely) pathogenic	3 labs	932ef151d0
10:112540604 RBM20 G>A	10	112540604	112540604	G	A	RBM20	c.237G>A	NM_001134363.3	NP_001127835.2:p.(Pro79=)	NC_000010.10:g.112540604G>A	(Likely) benign	3 labs	9e7969f546
5:148406435 SH3TC2 G>A	5	148406435	148406435	G	A	SH3TC2	c.2860C>T	NM_024577.4	NP_078853.2:p.(Arg954Ter)	NC_000005.9:g.148406435G>A	(Likely) pathogenic	4 labs	625449d023
16:46723619 ORC6 T>C	16	46723619	46723619	T	C	ORC6	c.2T>C	NM_014321.3	NP_055136.1:p.(Met1?)	NC_000016.9:g.46723619T>C	(Likely) pathogenic	2 labs	37fce08e09
11:77811990 ALG8 T>C	11	77811990	77811990	T	C	ALG8				NC_000011.9:g.77811990T>C	(Likely) benign	2 labs	04524ef6a4
11:108121410 ATM C>CTT	11	108121410	108121425	C	CTT	ATM	c.1236-4_1236-3dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121424_108121425dup	(Likely) benign	4 labs	2d8361cbba
5:140907266 DIAPH1 T>TAA	5	140907266	140907289	T	TAA	DIAPH1	c.3149-4_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907288_140907289dup	(Likely) benign	3 labs	52b13a91b8
3:37067120 MLH1 T>TTTA	3	37067120	37067121	T	TTTA	MLH1	c.1039-8_1039-7insTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTA	(Likely) benign	2 labs	a17478f0bf
17:41243654 BRCA1 TGAA>T	17	41243654	41243660	TGAA	T	BRCA1	c.3891_3893del	NM_007294.4	NP_009225.1:p.(Ser1298del)	NC_000017.10:g.41243658_41243660del	VUS	4 labs	b707e7dd6f
10:89720633 PTEN C>CTTT	10	89720633	89720648	C	CTTT	PTEN	c.802-5_802-3dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720646_89720648dup	(Likely) benign	2 labs	c4aa5cd9b4
18:21124907 NPC1 A>ACCCC	18	21124907	21124916	A	ACCCC	NPC1	c.1947+13_1947+16dup	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124913_21124916dup	(Likely) benign	3 labs	86f0d1b853
10:18439808 CACNB2 T>TTTTTG	10	18439808	18439810	T	TTTTTG	CACNB2	c.37-3_37-2insTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTGT	(Likely) benign	3 labs	ca0eae9f02
3:129286609 PLXND1 C>T	3	129286609	129286609	C	T	PLXND1	c.3905G>A	NM_015103.3	NP_055918.3:p.(Arg1302His)	NC_000003.11:g.129286609C>T	VUS	2 labs	001802f9b1
3:38645506 SCN5A A>G	3	38645506	38645506	A	G	SCN5A	c.1587T>C	NM_001099404.2	NP_001092874.1:p.(Ile529=)	NC_000003.11:g.38645506A>G	(Likely) benign	4 labs	001acc1ebd
2:191850360 STAT1 G>C	2	191850360	191850360	G	C	STAT1	c.1248C>G	NM_007315.3	NP_009330.1:p.(Gly416=)	NC_000002.11:g.191850360G>C	(Likely) benign	2 labs	09b4f6e1c9
9:107546633 ABCA1 AAAGAT>A	9	107546633	107546638	AAAGAT	A	ABCA1	c.6744_6748del	NM_005502.4	NP_005493.2:p.(Phe2250ThrfsTer3)	NC_000009.11:g.107546634_107546638del	VUS	2 labs	002f1c331e
2:48032094 MSH6 G>C	2	48032094	48032094	G	C	MSH6	c.3484G>C	NM_000179.3	NP_000170.1:p.(Ala1162Pro)	NC_000002.11:g.48032094G>C	(Likely) pathogenic	2 labs	07e25037a5
10:69959244 MYPN A>T	10	69959244	69959244	A	T	MYPN	c.2523A>T	NM_001256268.2	NP_001243197.1:p.(Pro841=)	NC_000010.10:g.69959244A>T	(Likely) benign	2 labs	003ef1162b
X:79947370 BRWD3 C>T	X	79947370	79947370	C	T	BRWD3	c.3433G>A	NM_153252.5	NP_694984.5:p.(Glu1145Lys)	NC_000023.10:g.79947370C>T	VUS	4 labs	003f1f07ba
1:156105756 LMNA G>A	1	156105756	156105756	G	A	LMNA	c.1001G>A	NM_170707.4	NP_733821.1:p.(Ser334Asn)	NC_000001.10:g.156105756G>A	VUS	5 labs	0050ada888
14:81575005 TSHR C>A	14	81575005	81575005	C	A	TSHR	c.805C>A	NM_001142626.3	NP_001136098.1:p.(Arg269Ser)	NC_000014.8:g.81575005C>A	(Likely) benign	2 labs	0052ba390c
17:41277329 BRCA1 G>A	17	41277329	41277329	G	A	BRCA1	c.-61C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277329G>A	(Likely) benign	2 labs	6733043a7e
7:151372702 PRKAG2 G>A	7	151372702	151372702	G	A	PRKAG2	c.488C>T	NM_016203.4	NP_057287.2:p.(Pro163Leu)	NC_000007.13:g.151372702G>A	VUS	2 labs	00538e44f6
X:71856188 PHKA1 C>T	X	71856188	71856188	C	T	PHKA1	c.1508G>A	NM_002637.4	NP_002628.2:p.(Gly503Glu)	NC_000023.10:g.71856188C>T	VUS	2 labs	005ac7e908
1:94512565 ABCA4 C>T	1	94512565	94512565	C	T	ABCA4	c.2828G>A	NM_000350.3	NP_000341.2:p.(Arg943Gln)	NC_000001.10:g.94512565C>T	(Likely) benign	4 labs	0068a2b5e7
17:16843084 TNFRSF13B A>G	17	16843084	16843084	A	G	TNFRSF13B	c.659T>C	NM_012452.2	NP_036584.1:p.(Val220Ala)	NC_000017.10:g.16843084A>G	(Likely) benign	2 labs	09d360d390
10:69948684 MYPN A>C	10	69948684	69948684	A	C	MYPN	c.1844A>C	NM_001256268.2	NP_001243197.1:p.(Glu615Ala)	NC_000010.10:g.69948684A>C	VUS	3 labs	008d22c90d
13:32914479 BRCA2 C>G	13	32914479	32914479	C	G	BRCA2	c.5987C>G	NM_000059.3	NP_000050.2:p.(Ala1996Gly)	NC_000013.10:g.32914479C>G	VUS	2 labs	6880abc6e5
1:3319479 PRDM16 G>A	1	3319479	3319479	G	A	PRDM16	c.801G>A	NM_022114.4	NP_071397.3:p.(Glu267=)	NC_000001.10:g.3319479G>A	(Likely) benign	2 labs	0097ef122d
16:2125830 TSC2 A>C	16	2125830	2125830	A	C	TSC2	c.2576A>C	NM_000548.5	NP_000539.2:p.(Asn859Thr)	NC_000016.9:g.2125830A>C	VUS	2 labs	009ec0e8b6
8:10469817 RP1L1 G>A	8	10469817	10469817	G	A	RP1L1	c.1791C>T	NM_178857.6	NP_849188.4:p.(Gly597=)	NC_000008.10:g.10469817G>A	(Likely) benign	2 labs	00ad9a1141
2:163138888 IFIH1 C>A	2	163138888	163138888	C	A	IFIH1	c.1294G>T	NM_022168.4	NP_071451.2:p.(Val432Phe)	NC_000002.11:g.163138888C>A	VUS	2 labs	00c0388f3b
13:32914825 BRCA2 G>GA	13	32914825	32914826	G	GA	BRCA2	c.6334dup	NM_000059.3	NP_000050.2:p.(Arg2112LysfsTer17)	NC_000013.10:g.32914826dup	(Likely) pathogenic	2 labs	6929ea07d0
13:32910748 BRCA2 C>T	13	32910748	32910748	C	T	BRCA2	c.2256C>T	NM_000059.4	NP_000050.3:p.(Asp752=)	NC_000013.10:g.32910748C>T	(Likely) benign	2 labs	08464a06d1
2:1520676 TPO T>C	2	1520676	1520676	T	C	TPO	c.2540T>C	NM_000547.6	NP_000538.3:p.(Val847Ala)	NC_000002.11:g.1520676T>C	(Likely) benign	3 labs	00d890ee61
21:47423309 COL6A1 G>A	21	47423309	47423309	G	A	COL6A1	c.2469G>A	NM_001848.2	NP_001839.2:p.(Thr823=)	NC_000021.8:g.47423309G>A	(Likely) benign	2 labs	0a0bb6617b
19:55665519 TNNI3 G>T	19	55665519	55665519	G	T	TNNI3	c.428C>A	NM_000363.5	NP_000354.4:p.(Thr143Asn)	NC_000019.9:g.55665519G>T	VUS	2 labs	697463a3ab
3:184072457 CLCN2 G>C	3	184072457	184072457	G	C	CLCN2	c.1397-11C>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184072457G>C	(Likely) benign	2 labs	0a14296ea9
16:70293064 AARS1 T>C	16	70293064	70293064	T	C	AARS1	c.1811A>G	NM_001605.3	NP_001596.2:p.(Asn604Ser)	NC_000016.9:g.70293064T>C	VUS	3 labs	00eb88b2a5
2:47657059 MSH2 C>T	2	47657059	47657059	C	T	MSH2	c.1255C>T	NM_000251.3	NP_000242.1:p.(Gln419Ter)	NC_000002.11:g.47657059C>T	(Likely) pathogenic	2 labs	00fca03402
12:65141707 GNS GA>G	12	65141707	65141710	GA	G	GNS	c.253-10del	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65141710del	(Likely) benign	3 labs	0109bd7120
1:207497983 CD55 T>TA	1	207497983	207497984	T	TA	CD55	c.367dup	NM_000574.5	NP_000565.1:p.(Thr123AsnfsTer6)	NC_000001.10:g.207497984dup	(Likely) pathogenic	2 labs	6a38d739e0
21:47410931 COL6A1 T>C	21	47410931	47410931	T	C	COL6A1	c.1095T>C	NM_001848.3	NP_001839.2:p.(Gly365=)	NC_000021.8:g.47410931T>C	(Likely) benign	3 labs	0124645a6b
1:3331183 PRDM16 G>A	1	3331183	3331183	G	A	PRDM16	c.2663G>A	NM_022114.4	NP_071397.3:p.(Arg888Gln)	NC_000001.10:g.3331183G>A	VUS	2 labs	02584c0f1c
13:51519581 RNASEH2B G>A	13	51519581	51519581	G	A	RNASEH2B	c.529G>A	NM_001142279.2	NP_001135751.1:p.(Ala177Thr)	NC_000013.10:g.51519581G>A	(Likely) pathogenic	6 labs	012baf709a
4:2834080 SH3BP2 C>T	4	2834080	2834080	C	T	SH3BP2	c.1513C>T	NM_001145855.2	NP_001139327.1:p.(Arg505Trp)	NC_000004.11:g.2834080C>T	(Likely) benign	4 labs	012f919e66
16:23647713 PALB2 T>G	16	23647713	23647713	T	G	PALB2	c.212-58A>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23647713T>G	(Likely) benign	2 labs	6b3a489ee3
2:179434520 TTN C>G	2	179434520	179434520	C	G	TTN	c.76339G>C	NM_001267550.2	NP_001254479.2:p.(Val25447Leu)	NC_000002.11:g.179434520C>G	VUS	2 labs	0138c82c87
X:25025355 ARX A>AGGC	X	25025355	25025376	A	AGGC	ARX	c.1318_1320dup	NM_139058.3	NP_620689.1:p.(Ala440dup)	NC_000023.10:g.25025374_25025376dup	(Likely) benign	3 labs	013be85ebb
5:140953381 DIAPH1 G>A	5	140953381	140953381	G	A	DIAPH1	c.2036C>T	NM_005219.5	NP_005210.3:p.(Pro679Leu)	NC_000005.9:g.140953381G>A	VUS	2 labs	0142b04494
1:78383289 NEXN T>C	1	78383289	78383289	T	C	NEXN	c.66T>C	NM_144573.4	NP_653174.3:p.(Tyr22=)	NC_000001.10:g.78383289T>C	(Likely) benign	5 labs	0142d9eee1
11:14316128 RRAS2 T>TA	11	14316128	14316140	T	TA	RRAS2	c.300-4dup	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14316140dup	(Likely) benign	2 labs	0a50069bd2
2:171678625 GAD1 T>C	2	171678625	171678625	T	C	GAD1	c.111T>C	NM_000817.3	NP_000808.2:p.(His37=)	NC_000002.11:g.171678625T>C	(Likely) benign	2 labs	281aeee3f9
18:47093818 LIPG G>A	18	47093818	47093818	G	A	LIPG	c.286G>A	NM_006033.4	NP_006024.1:p.(Gly96Ser)	NC_000018.9:g.47093818G>A	VUS	2 labs	01543bd4a0
12:121176679 ACADS C>T	12	121176679	121176679	C	T	ACADS	c.990C>T	NM_000017.4	NP_000008.1:p.(Arg330=)	NC_000012.11:g.121176679C>T	(Likely) benign	2 labs	08a0f2b148
13:32972514 BRCA2 A>G	13	32972514	32972514	A	G	BRCA2	c.9864A>G	NM_000059.3	NP_000050.2:p.(Thr3288=)	NC_000013.10:g.32972514A>G	(Likely) benign	2 labs	6c6d7982dd
19:54629964 PRPF31 A>C	19	54629964	54629964	A	C	PRPF31	c.917A>C	NM_015629.4	NP_056444.3:p.(Asp306Ala)	NC_000019.9:g.54629964A>C	VUS	2 labs	6c63c3f042
16:84203964 DNAAF1 T>C	16	84203964	84203964	T	C	DNAAF1	c.1528+2T>C	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84203964T>C	(Likely) pathogenic	2 labs	6c7254f277
1:94458783 ABCA4 G>T	1	94458783	94458783	G	T	ABCA4	c.*10C>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94458783G>T	(Likely) benign	2 labs	6c7bc0ef03
11:108200960 ATM C>T	11	108200960	108200960	C	T	ATM	c.7327C>T	NM_000051.4	NP_000042.3:p.(Arg2443Ter)	NC_000011.9:g.108200960C>T	(Likely) pathogenic	2 labs	6c8a9877f7
13:113795286 F10 G>A	13	113795286	113795286	G	A	F10	c.424G>A	NM_000504.4	NP_000495.1:p.(Glu142Lys)	NC_000013.10:g.113795286G>A	VUS	2 labs	0167e6d652
7:6038703 PMS2 G>A	7	6038703	6038703	G	A	PMS2	c.705+36C>T	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6038703G>A	(Likely) benign	2 labs	6cbc043300
13:32899354 BRCA2 A>G	13	32899354	32899354	A	G	BRCA2	c.425+33A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899354A>G	(Likely) benign	3 labs	0a62649b84
X:12734650 FRMPD4 G>T	X	12734650	12734650	G	T	FRMPD4	c.2072G>T	NM_014728.3	NP_055543.2:p.(Gly691Val)	NC_000023.10:g.12734650G>T	(Likely) benign	2 labs	017a29de5e
3:98304467 CPOX T>C	3	98304467	98304467	T	C	CPOX	c.990A>G	NM_000097.7	NP_000088.3:p.(Glu330=)	NC_000003.11:g.98304467T>C	(Likely) benign	3 labs	0180e9dcef
17:78083726 GAA A>G	17	78083726	78083726	A	G	GAA	c.1327-18A>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78083726A>G	(Likely) benign	4 labs	0189ce4090
X:53441746 SMC1A C>G	X	53441746	53441746	C	G	SMC1A	c.372G>C	NM_006306.4	NP_006297.2:p.(Leu124Phe)	NC_000023.10:g.53441746C>G	(Likely) benign	2 labs	018a72080d
6:7572091 DSP C>T	6	7572091	7572091	C	T	DSP	c.1920C>T	NM_004415.4	NP_004406.2:p.(Ile640=)	NC_000006.11:g.7572091C>T	(Likely) benign	4 labs	0194cfa147
4:114213631 ANK2 C>T	4	114213631	114213631	C	T	ANK2	c.2337C>T	NM_001148.6	NP_001139.3:p.(Val779=)	NC_000004.11:g.114213631C>T	(Likely) benign	2 labs	6e516fd01d
17:33445677 RAD51D C>A	17	33445677	33445677	C	A	RAD51D	c.145-39G>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445677C>A	(Likely) benign	2 labs	6e69c25ee1
2:179483052 TTN T>C	2	179483052	179483052	T	C	TTN	c.47133A>G	NM_001267550.2	NP_001254479.2:p.(Ala15711=)	NC_000002.11:g.179483052T>C	(Likely) benign	5 labs	01afff4faf
11:108203575 ATM TG>GC	11	108203575	108203576	TG	GC	ATM	c.7875_7876delinsGC	NM_000051.4	NP_000042.3:p.(Asp2625_Ala2626delinsGluPro)	NC_000011.9:g.108203575_108203576delinsGC	(Likely) pathogenic	2 labs	6e978651c7
3:9488800 SETD5 C>T	3	9488800	9488800	C	T	SETD5	c.1591C>T	NM_001080517.3	NP_001073986.1:p.(Arg531Trp)	NC_000003.11:g.9488800C>T	VUS	2 labs	01b649eb09
17:68171777 KCNJ2 C>T	17	68171777	68171777	C	T	KCNJ2	c.597C>T	NM_000891.3	NP_000882.1:p.(Ala199=)	NC_000017.10:g.68171777C>T	(Likely) benign	2 labs	6eb5ff3552
8:100880639 VPS13B G>T	8	100880639	100880639	G	T	VPS13B	c.11413G>T	NM_017890.5	NP_060360.3:p.(Val3805Leu)	NC_000008.10:g.100880639G>T	VUS	3 labs	01c57e2e65
2:179641930 TTN A>G	2	179641930	179641930	A	G	TTN	c.4760T>C	NM_001267550.2	NP_001254479.2:p.(Ile1587Thr)	NC_000002.11:g.179641930A>G	VUS	2 labs	01cfea5253
14:50585248 SOS2 C>T	14	50585248	50585248	C	T	SOS2	c.3813G>A	NM_006939.4	NP_008870.2:p.(Pro1271=)	NC_000014.8:g.50585248C>T	(Likely) benign	2 labs	6f62b68447
14:23885450 MYH7 G>A	14	23885450	23885450	G	A	MYH7	c.4716C>T	NM_000257.4	NP_000248.2:p.(Ile1572=)	NC_000014.8:g.23885450G>A	(Likely) benign	5 labs	01ed71ae8b
3:38936100 SCN11A G>A	3	38936100	38936100	G	A	SCN11A	c.2759C>T	NM_014139.3	NP_054858.2:p.(Ala920Val)	NC_000003.11:g.38936100G>A	VUS	2 labs	6fc77a39f8
2:179457276 TTN G>A	2	179457276	179457276	G	A	TTN	c.59456C>T	NM_001267550.2	NP_001254479.2:p.(Thr19819Ile)	NC_000002.11:g.179457276G>A	VUS	2 labs	0aba0a8768
15:35084489 ACTC1 A>G	15	35084489	35084489	A	G	ACTC1	c.617-7T>C	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35084489A>G	(Likely) benign	2 labs	0ad691f7ef
13:52511719 ATP7B C>T	13	52511719	52511719	C	T	ATP7B	c.3796G>A	NM_000053.4	NP_000044.2:p.(Gly1266Arg)	NC_000013.10:g.52511719C>T	(Likely) pathogenic	2 labs	0ade786218
6:32008963 TNXB C>T	6	32008963	32008963	C	T	TNXB	c.*163G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32008963C>T	(Likely) benign	2 labs	7104c67a7a
11:47371589 MYBPC3 G>A	11	47371589	47371589	G	A	MYBPC3	c.481C>T	NM_000256.3	NP_000247.2:p.(Pro161Ser)	NC_000011.9:g.47371589G>A	(Likely) pathogenic	5 labs	021b7246a5
1:6537568 PLEKHG5 GCGGCTCC>G	1	6537568	6537577	GCGGCTCC	G	PLEKHG5	c.43+14_43+20del	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6537571_6537577del	(Likely) benign	2 labs	0aebd380a4
11:19213923 CSRP3 A>G	11	19213923	19213923	A	G	CSRP3	c.73T>C	NM_003476.5	NP_003467.1:p.(Cys25Arg)	NC_000011.9:g.19213923A>G	VUS	2 labs	719a1a4f02
3:14174077 TMEM43 G>A	3	14174077	14174077	G	A	TMEM43	c.424G>A	NM_024334.3	NP_077310.1:p.(Glu142Lys)	NC_000003.11:g.14174077G>A	(Likely) benign	5 labs	02263ff30b
1:17355218 SDHB A>G	1	17355218	17355218	A	G	SDHB	c.300T>C	NM_003000.3	NP_002991.2:p.(Ser100=)	NC_000001.10:g.17355218A>G	(Likely) benign	6 labs	022835a03c
11:68192690 LRP5 G>A	11	68192690	68192690	G	A	LRP5	c.3357G>A	NM_002335.4	NP_002326.2:p.(Val1119=)	NC_000011.9:g.68192690G>A	(Likely) benign	4 labs	022bb439f5
7:94043239 COL1A2 C>G	7	94043239	94043239	C	G	COL1A2	c.1645C>G	NM_000089.4	NP_000080.2:p.(Pro549Ala)	NC_000007.13:g.94043239C>G	(Likely) benign	3 labs	022cf6e2f9
10:89685308 PTEN A>G	10	89685308	89685308	A	G	PTEN	c.203A>G	NM_000314.4	NP_000305.3:p.(Tyr68Cys)	NC_000010.10:g.89685308A>G	(Likely) pathogenic	2 labs	72214b3218
17:41277460 BRCA1 A>G	17	41277460	41277460	A	G	BRCA1	c.-192T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277460A>G	(Likely) benign	2 labs	7246da0d0c
1:155205017 GBA1 C>G	1	155205017	155205017	C	G	GBA1	c.1474G>C	NM_001005741.3	NP_001005741.1:p.(Asp492His)	NC_000001.10:g.155205017C>G	VUS	2 labs	0967a9208f
2:179542391 TTN T>C	2	179542391	179542391	T	C	TTN	c.34248A>G	NM_001267550.2	NP_001254479.2:p.(Glu11416=)	NC_000002.11:g.179542391T>C	(Likely) benign	4 labs	0245263d69
16:2120559 TSC2 G>A	16	2120559	2120559	G	A	TSC2	c.1819G>A	NM_001114382.3	NP_001107854.1:p.(Ala607Thr)	NC_000016.9:g.2120559G>A	(Likely) benign	2 labs	02574af5ad
17:41244748 BRCA1 G>A	17	41244748	41244748	G	A	BRCA1	c.2800C>T	NM_007294.4	NP_009225.1:p.(Gln934Ter)	NC_000017.10:g.41244748G>A	(Likely) pathogenic	4 labs	025584e29c
7:42063224 GLI3 G>C	7	42063224	42063224	G	C	GLI3	c.1357-17C>G	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42063224G>C	(Likely) benign	3 labs	0b2204aac5
2:48032937 MSH6 T>C	2	48032937	48032937	T	C	MSH6	c.3646+91T>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032937T>C	(Likely) benign	2 labs	738607e646
10:89720907 PTEN T>G	10	89720907	89720907	T	G	PTEN	c.1026+32T>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720907T>G	(Likely) benign	2 labs	73cd4528a3
12:971291 WNK1 C>T	12	971291	971291	C	T	WNK1	c.1994C>T	NM_001184985.2	NP_001171914.1:p.(Thr665Ile)	NC_000012.11:g.971291C>T	(Likely) benign	2 labs	73da7b17d0
19:6677989 C3 G>A	19	6677989	6677989	G	A	C3	c.4896C>T	NM_000064.4	NP_000055.2:p.(Pro1632=)	NC_000019.9:g.6677989G>A	(Likely) benign	2 labs	026d4130e2
3:100948225 IMPG2 T>G	3	100948225	100948225	T	G	IMPG2	c.3632A>C	NM_016247.4	NP_057331.2:p.(Glu1211Ala)	NC_000003.11:g.100948225T>G	VUS	2 labs	740f45c7b3
11:118007797 SCN4B G>C	11	118007797	118007797	G	C	SCN4B	c.632C>G	NM_174934.4	NP_777594.1:p.(Thr211Arg)	NC_000011.9:g.118007797G>C	VUS	3 labs	0287399f36
18:25593778 CDH2 C>T	18	25593778	25593778	C	T	CDH2	c.268G>A	NM_001792.5	NP_001783.2:p.(Val90Met)	NC_000018.9:g.25593778C>T	VUS	2 labs	02910ec50f
14:36986596 NKX2-1 C>A	14	36986596	36986596	C	A	NKX2-1	c.1003G>T	NM_003317.4	NP_003308.1:p.(Ala335Ser)	NC_000014.8:g.36986596C>A	(Likely) benign	3 labs	0293cda1fa
6:112512905 LAMA4 G>A	6	112512905	112512905	G	A	LAMA4	c.651C>T	NM_002290.5	NP_002281.3:p.(Thr217=)	NC_000006.11:g.112512905G>A	(Likely) benign	3 labs	029ac28914
19:50411582 NUP62 G>A	19	50411582	50411582	G	A	NUP62	c.1483C>T	NM_016553.5	NP_057637.2:p.(Leu495=)	NC_000019.9:g.50411582G>A	(Likely) benign	2 labs	02a604ea64
2:39281904 SOS1 C>T	2	39281904	39281904	C	T	SOS1	c.571G>A	NM_005633.4	NP_005624.2:p.(Glu191Lys)	NC_000002.11:g.39281904C>T	VUS	2 labs	7545177403
2:179571418 TTN T>C	2	179571418	179571418	T	C	TTN	c.29183A>G	NM_001267550.2	NP_001254479.2:p.(Asn9728Ser)	NC_000002.11:g.179571418T>C	VUS	3 labs	02a9fd24e3
4:114204016 ANK2 C>T	4	114204016	114204016	C	T	ANK2	c.2118C>T	NM_001386174.1	NP_001373103.1:p.(His706=)	NC_000004.11:g.114204016C>T	(Likely) benign	2 labs	7550f879f4
13:32936620 BRCA2 A>G	13	32936620	32936620	A	G	BRCA2	c.7806-40A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936620A>G	(Likely) benign	2 labs	756064c913
19:7710082 STXBP2 G>C	19	7710082	7710082	G	C	STXBP2	c.1247-1G>C	NM_006949.4	NP_008880.2:p.?	NC_000019.9:g.7710082G>C	(Likely) pathogenic	4 labs	02d2e3ace4
16:1260481 CACNA1H T>C	16	1260481	1260481	T	C	CACNA1H	c.3957T>C	NM_021098.3	NP_066921.2:p.(Asp1319=)	NC_000016.9:g.1260481T>C	(Likely) benign	2 labs	02d62395fb
2:189859788 COL3A1 G>A	2	189859788	189859788	G	A	COL3A1	c.1472G>A	NM_000090.4	NP_000081.2:p.(Arg491Gln)	NC_000002.11:g.189859788G>A	VUS	2 labs	02dccbc16e
2:21232588 APOB A>G	2	21232588	21232588	A	G	APOB	c.7152T>C	NM_000384.3	NP_000375.3:p.(Val2384=)	NC_000002.11:g.21232588A>G	(Likely) benign	2 labs	02f5dcaf52
1:215848679 USH2A G>A	1	215848679	215848679	G	A	USH2A	c.12574C>T	NM_206933.3	NP_996816.2:p.(Arg4192Cys)	NC_000001.10:g.215848679G>A	(Likely) pathogenic	2 labs	76d3985643
14:23882985 MYH7 G>C	14	23882985	23882985	G	C	MYH7	c.5773C>G	NM_000257.4	NP_000248.2:p.(Arg1925Gly)	NC_000014.8:g.23882985G>C	(Likely) pathogenic	5 labs	02f8d9f7ff
1:156105928 LMNA G>A	1	156105928	156105928	G	A	LMNA	c.1157+16G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105928G>A	(Likely) benign	5 labs	02fd88020d
1:40546166 PPT1 GA>G	1	40546166	40546175	GA	G	PPT1	c.537-8del	NM_000310.4	NP_000301.1:p.?	NC_000001.10:g.40546175del	(Likely) benign	2 labs	0b9ead29c7
7:117246808 CFTR G>A	7	117246808	117246808	G	A	CFTR	c.2988+1G>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117246808G>A	(Likely) pathogenic	3 labs	031c1c3ed4
11:108236279 ATM A>G	11	108236279	108236279	A	G	ATM	c.*44A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236279A>G	(Likely) benign	2 labs	77904ea5cd
7:151261157 PRKAG2 G>A	7	151261157	151261157	G	A	PRKAG2	c.1584+7C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151261157G>A	(Likely) benign	5 labs	032b073c42
16:920870 LMF1 C>T	16	920870	920870	C	T	LMF1	c.1091G>A	NM_022773.4	NP_073610.2:p.(Arg364Gln)	NC_000016.9:g.920870C>T	(Likely) benign	2 labs	032f19d77d
2:32476390 NLRC4 T>G	2	32476390	32476390	T	G	NLRC4	c.543A>C	NM_021209.4	NP_067032.3:p.(Arg181=)	NC_000002.11:g.32476390T>G	(Likely) benign	2 labs	0bc1cf3302
6:152746682 SYNE1 C>A	6	152746682	152746682	C	A	SYNE1	c.5101G>T	NM_182961.4	NP_892006.3:p.(Ala1701Ser)	NC_000006.11:g.152746682C>A	(Likely) benign	5 labs	0339a0e104
17:78163633 CARD14 C>T	17	78163633	78163633	C	T	CARD14	c.925C>T	NM_024110.4	NP_077015.2:p.(Arg309Trp)	NC_000017.10:g.78163633C>T	VUS	2 labs	033cc39d15
X:31496273 DMD C>T	X	31496273	31496273	C	T	DMD	c.8887G>A	NM_004006.3	NP_003997.2:p.(Val2963Met)	NC_000023.10:g.31496273C>T	VUS	2 labs	04b27b205f
7:6026840 PMS2 T>C	7	6026840	6026840	T	C	PMS2	c.1556A>G	NM_000535.5	NP_000526.1:p.(Tyr519Cys)	NC_000007.13:g.6026840T>C	(Likely) benign	2 labs	78d0a900d8
16:2159546 PKD1 C>T	16	2159546	2159546	C	T	PKD1	c.5622G>A	NM_001009944.2	NP_001009944.2:p.(Trp1874Ter)	NC_000016.9:g.2159546C>T	(Likely) pathogenic	2 labs	0bda33485b
6:7581636 DSP G>A	6	7581636	7581636	G	A	DSP	c.5213G>A	NM_004415.4	NP_004406.2:p.(Arg1738Gln)	NC_000006.11:g.7581636G>A	(Likely) benign	5 labs	03655cc4a5
13:32906977 BRCA2 A>G	13	32906977	32906977	A	G	BRCA2	c.1362A>G	NM_000059.4	NP_000050.3:p.(Lys454=)	NC_000013.10:g.32906977A>G	(Likely) benign	2 labs	797d479608
19:11213338 LDLR A>G	19	11213338	11213338	A	G	LDLR	c.191-2A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213338A>G	(Likely) pathogenic	2 labs	0367c02b46
7:128496837 FLNC G>A	7	128496837	128496837	G	A	FLNC	c.7423G>A	NM_001458.5	NP_001449.3:p.(Val2475Ile)	NC_000007.13:g.128496837G>A	VUS	3 labs	0369a781c3
2:179589284 TTN T>C	2	179589284	179589284	T	C	TTN	c.20837-19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179589284T>C	(Likely) benign	4 labs	036a717a28
16:1252259 CACNA1H A>G	16	1252259	1252259	A	G	CACNA1H	c.1809A>G	NM_021098.3	NP_066921.2:p.(Arg603=)	NC_000016.9:g.1252259A>G	(Likely) benign	2 labs	0beb37df5d
5:33964078 SLC45A2 C>G	5	33964078	33964078	C	G	SLC45A2	c.606G>C	NM_016180.5	NP_057264.4:p.(Trp202Cys)	NC_000005.9:g.33964078C>G	(Likely) pathogenic	2 labs	0373f2473d
2:179669303 TTN C>T	2	179669303	179669303	C	T	TTN	c.67G>A	NM_001267550.2	NP_001254479.2:p.(Ala23Thr)	NC_000002.11:g.179669303C>T	VUS	2 labs	7a2fbe459b
2:71709120 DYSF G>A	2	71709120	71709120	G	A	DYSF	c.236+20G>A	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71709120G>A	(Likely) benign	2 labs	7a44263999
7:151273498 PRKAG2 C>T	7	151273498	151273498	C	T	PRKAG2	c.905G>A	NM_016203.4	NP_057287.2:p.(Arg302Gln)	NC_000007.13:g.151273498C>T	(Likely) pathogenic	3 labs	037f640692
10:92678738 ANKRD1 AAAATAAAT>A	10	92678738	92678751	AAAATAAAT	A	ANKRD1	c.346-17_346-10del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678751del	(Likely) benign	4 labs	0380cf76a0
16:88501971 ZNF469 T>A	16	88501971	88501971	T	A	ZNF469	c.8093T>A	NM_001367624.2	NP_001354553.1:p.(Leu2698Gln)	NC_000016.9:g.88501971T>A	(Likely) benign	2 labs	0385fd5b7c
17:41244122 BRCA1 T>C	17	41244122	41244122	T	C	BRCA1	c.3426A>G	NM_007294.3	NP_009225.1:p.(Ala1142=)	NC_000017.10:g.41244122T>C	(Likely) benign	2 labs	7ad0cd7e11
8:65509264 CYP7B1 G>A	8	65509264	65509264	G	A	CYP7B1	c.1456C>T	NM_004820.5	NP_004811.1:p.(Arg486Cys)	NC_000008.10:g.65509264G>A	(Likely) pathogenic	2 labs	03a03580cb
2:47707824 MSH2 A>G	2	47707824	47707824	A	G	MSH2	c.2459-11A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47707824A>G	VUS	2 labs	7edab47b8a
7:128481620 FLNC A>G	7	128481620	128481620	A	G	FLNC	c.2120A>G	NM_001458.5	NP_001449.3:p.(Gln707Arg)	NC_000007.13:g.128481620A>G	VUS	2 labs	7aef74392e
14:23855798 MYH6 C>T	14	23855798	23855798	C	T	MYH6	c.4685G>A	NM_002471.4	NP_002462.2:p.(Arg1562Gln)	NC_000014.8:g.23855798C>T	VUS	2 labs	7b23c27cb4
19:50365057 PNKP T>TGTTGTCGATGGCGACCC	19	50365057	50365077	T	TGTTGTCGATGGCGACCC	PNKP	c.1253_1269dup	NM_007254.4	NP_009185.2:p.(Thr424GlyfsTer49)	NC_000019.9:g.50365061_50365077dup	(Likely) pathogenic	4 labs	03b2374d65
14:95566105 DICER1 ACAC>A	14	95566105	95566108	ACAC	A	DICER1	c.4206+9_4206+11del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566106_95566108del	(Likely) benign	2 labs	0c10104a86
17:33446491 RAD51D G>A	17	33446491	33446491	G	A	RAD51D	c.82+60C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446491G>A	(Likely) benign	2 labs	7b8be125bb
1:236925844 ACTN2 G>A	1	236925844	236925844	G	A	ACTN2	c.1986G>A	NM_001278344.2	NP_001265273.1:p.(Ser662=)	NC_000001.10:g.236925844G>A	(Likely) benign	3 labs	03c348d39f
7:6026829 PMS2 A>T	7	6026829	6026829	A	T	PMS2	c.1567T>A	NM_000535.5	NP_000526.1:p.(Ser523Thr)	NC_000007.13:g.6026829A>T	(Likely) benign	2 labs	7ba31d30d0
11:47367848 MYBPC3 C>T	11	47367848	47367848	C	T	MYBPC3	c.1000G>A	NM_000256.3	NP_000247.2:p.(Glu334Lys)	NC_000011.9:g.47367848C>T	VUS	2 labs	03cc9ee93b
2:179648485 TTN G>A	2	179648485	179648485	G	A	TTN	c.2803C>T	NM_001267550.2	NP_001254479.2:p.(Pro935Ser)	NC_000002.11:g.179648485G>A	VUS	2 labs	03cd19a077
10:75830440 VCL T>A	10	75830440	75830440	T	A	VCL	c.252T>A	NM_014000.3	NP_054706.1:p.(Ala84=)	NC_000010.10:g.75830440T>A	(Likely) benign	2 labs	03d1cda4c8
19:11223952 LDLR A>G	19	11223952	11223952	A	G	LDLR	c.1187-2A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223952A>G	(Likely) pathogenic	2 labs	03de0e6f09
17:7577644 TP53 C>G	17	7577644	7577644	C	G	TP53	c.673-36G>C	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577644C>G	(Likely) benign	2 labs	7c85d53ded
5:137213294 MYOT G>A	5	137213294	137213294	G	A	MYOT	c.617G>A	NM_006790.2	NP_006781.1:p.(Gly206Asp)	NC_000005.9:g.137213294G>A	(Likely) benign	2 labs	0c2c72f819
2:238280366 COL6A3 C>T	2	238280366	238280366	C	T	COL6A3	c.3676G>A	NM_057165.5	NP_476506.3:p.(Gly1226Arg)	NC_000002.11:g.238280366C>T	(Likely) benign	2 labs	0c2e99a246
2:71795421 DYSF G>A	2	71795421	71795421	G	A	DYSF	c.2814G>A	NM_001130981.2	NP_001124453.1:p.(Ser938=)	NC_000002.11:g.71795421G>A	(Likely) benign	2 labs	0c32ab5902
X:154133273 F8 C>T	X	154133273	154133273	C	T	F8	c.5399G>A	NM_000132.3	NP_000123.1:p.(Arg1800His)	NC_000023.10:g.154133273C>T	(Likely) pathogenic	2 labs	0c36addb02
17:41201162 BRCA1 C>G	17	41201162	41201162	C	G	BRCA1	c.5382G>C	NM_007294.4	NP_009225.1:p.(Glu1794Asp)	NC_000017.10:g.41201162C>G	(Likely) benign	4 labs	03f7f4931a
11:61165741 TMEM216 G>C	11	61165741	61165741	G	C	TMEM216	c.432-1G>C	NM_001173990.3	NP_001167461.1:p.?	NC_000011.9:g.61165741G>C	(Likely) benign	3 labs	040232de49
13:32929080 BRCA2 G>A	13	32929080	32929080	G	A	BRCA2	c.7090G>A	NM_000059.4	NP_000050.3:p.(Glu2364Lys)	NC_000013.10:g.32929080G>A	(Likely) benign	3 labs	7db32f3891
10:75849767 VCL G>A	10	75849767	75849767	G	A	VCL	c.1177-14G>A	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75849767G>A	(Likely) benign	4 labs	040c89e66d
19:11227662 LDLR G>C	19	11227662	11227662	G	C	LDLR	c.1833G>C	NM_000527.5	NP_000518.1:p.(Leu611Phe)	NC_000019.9:g.11227662G>C	(Likely) pathogenic	2 labs	0411d0a168
3:133666209 SLCO2A1 C>T	3	133666209	133666209	C	T	SLCO2A1	c.1186G>A	NM_005630.3	NP_005621.2:p.(Ala396Thr)	NC_000003.11:g.133666209C>T	(Likely) benign	2 labs	7dde6ece6b
1:74808792 TNNI3K G>T	1	74808792	74808792	G	T	TNNI3K	c.861G>T	NM_015978.3	NP_057062.1:p.(Lys287Asn)	NC_000001.10:g.74808792G>T	VUS	3 labs	0414004ccc
13:32890607 BRCA2 G>T	13	32890607	32890607	G	T	BRCA2	c.10G>T	NM_000059.3	NP_000050.2:p.(Gly4Ter)	NC_000013.10:g.32890607G>T	(Likely) pathogenic	2 labs	7e2372c9df
1:155264945 PKLR A>G	1	155264945	155264945	A	G	PKLR	c.656T>C	NM_000298.6	NP_000289.1:p.(Ile219Thr)	NC_000001.10:g.155264945A>G	(Likely) pathogenic	2 labs	0c4d6d7d01
13:32914215 BRCA2 T>C	13	32914215	32914215	T	C	BRCA2	c.5723T>C	NM_000059.3	NP_000050.2:p.(Leu1908Pro)	NC_000013.10:g.32914215T>C	(Likely) benign	2 labs	7e3ce19731
13:110859743 COL4A1 C>T	13	110859743	110859743	C	T	COL4A1	c.780+7G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110859743C>T	(Likely) benign	4 labs	043a5e03cb
3:38793989 SCN10A G>A	3	38793989	38793989	G	A	SCN10A	c.1476C>T	NM_006514.4	NP_006505.4:p.(Leu492=)	NC_000003.11:g.38793989G>A	(Likely) benign	2 labs	7e6f5df39a
2:228118314 COL4A3 G>A	2	228118314	228118314	G	A	COL4A3	c.725G>A	NM_000091.4	NP_000082.2:p.(Gly242Glu)	NC_000002.11:g.228118314G>A	(Likely) pathogenic	2 labs	0c504898e6
7:153750132 DPP6 A>T	7	153750132	153750132	A	T	DPP6	c.227A>T	NM_130797.4	NP_570629.2:p.(Asp76Val)	NC_000007.13:g.153750132A>T	(Likely) benign	2 labs	7ebc774b5d
2:179615931 TTN C>G	2	179615931	179615931	C	G	TTN	c.11196G>C	NM_133379.5	NP_596870.2:p.(Leu3732Phe)	NC_000002.11:g.179615931C>G	(Likely) benign	2 labs	0450a8554f
20:32005734 SNTA1 T>C	20	32005734	32005734	T	C	SNTA1	c.497-5A>G	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32005734T>C	VUS	2 labs	930e0f9c3d
17:39919586 JUP G>T	17	39919586	39919586	G	T	JUP	c.1159-13C>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39919586G>T	(Likely) benign	3 labs	0457349764
17:78087109 GAA A>G	17	78087109	78087109	A	G	GAA	c.2133A>G	NM_000152.5	NP_000143.2:p.(Thr711=)	NC_000017.10:g.78087109A>G	(Likely) benign	4 labs	04601d1ee4
2:179501124 TTN C>A	2	179501124	179501124	C	A	TTN	c.41329+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179501124C>A	(Likely) pathogenic	4 labs	046412327c
18:34324114 FHOD3 C>T	18	34324114	34324114	C	T	FHOD3	c.3474C>T	NM_025135.5	NP_079411.2:p.(Ser1158=)	NC_000018.9:g.34324114C>T	(Likely) benign	2 labs	04691ac750
2:179623758 TTN C>T	2	179623758	179623758	C	T	TTN	c.10256G>A	NM_001267550.2	NP_001254479.2:p.(Ser3419Asn)	NC_000002.11:g.179623758C>T	(Likely) benign	4 labs	0471197cee
15:48782042 FBN1 T>C	15	48782042	48782042	T	C	FBN1	c.3082+6A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48782042T>C	(Likely) benign	3 labs	0c6dfb71a8
15:63353901 TPM1 G>A	15	63353901	63353901	G	A	TPM1	c.564-11G>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63353901G>A	(Likely) benign	2 labs	04830c7521
1:237995837 RYR2 C>G	1	237995837	237995837	C	G	RYR2	c.14809-15C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237995837C>G	(Likely) benign	5 labs	048c8b68cd
10:124271595 HTRA1 G>A	10	124271595	124271595	G	A	HTRA1	c.1274+14G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124271595G>A	(Likely) benign	3 labs	0492fa99a8
16:16259596 ABCC6 G>A	16	16259596	16259596	G	A	ABCC6	c.2848C>T	NM_001351800.1	NP_001338729.1:p.(Arg950Trp)	NC_000016.9:g.16259596G>A	(Likely) benign	4 labs	0497bac182
X:53620402 HUWE1 C>T	X	53620402	53620402	C	T	HUWE1	c.3663G>A	NM_031407.7	NP_113584.3:p.(Ser1221=)	NC_000023.10:g.53620402C>T	(Likely) benign	3 labs	049ac36d95
7:143016928 CLCN1 C>T	7	143016928	143016928	C	T	CLCN1	c.261C>T	NM_000083.3	NP_000074.3:p.(Thr87=)	NC_000007.13:g.143016928C>T	(Likely) benign	2 labs	0c7f7eb02d
1:237758969 RYR2 G>A	1	237758969	237758969	G	A	RYR2	c.4596+12G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237758969G>A	(Likely) benign	3 labs	04a35a9d44
17:73826491 UNC13D G>A	17	73826491	73826491	G	A	UNC13D	c.2782C>T	NM_199242.2	NP_954712.1:p.(Arg928Cys)	NC_000017.10:g.73826491G>A	(Likely) benign	2 labs	0c7ff9b688
7:128482268 FLNC T>C	7	128482268	128482268	T	C	FLNC	c.2122-17T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482268T>C	(Likely) benign	2 labs	80b2cb5d9f
4:1803571 FGFR3 C>G	4	1803571	1803571	C	G	FGFR3	c.749C>G	NM_000142.5	NP_000133.1:p.(Pro250Arg)	NC_000004.11:g.1803571C>G	(Likely) pathogenic	4 labs	04b04c598a
12:2760761 CACNA1C C>G	12	2760761	2760761	C	G	CACNA1C	c.3967C>G	NM_001129829.2	NP_001123301.1:p.(Pro1323Ala)	NC_000012.11:g.2760761C>G	(Likely) benign	2 labs	80e209faf0
11:108202604 ATM A>C	11	108202604	108202604	A	C	ATM	c.7630-2A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202604A>C	(Likely) pathogenic	2 labs	81107fd224
3:14174357 TMEM43 C>T	3	14174357	14174357	C	T	TMEM43	c.443-9C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174357C>T	(Likely) benign	2 labs	34fcd24de8
1:156106888 LMNA C>G	1	156106888	156106888	C	G	LMNA	c.1489-16C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106888C>G	(Likely) benign	4 labs	04bb7a684b
11:118037813 SCN2B G>T	11	118037813	118037813	G	T	SCN2B	c.449-12C>A	NM_004588.5	NP_004579.1:p.?	NC_000011.9:g.118037813G>T	(Likely) benign	2 labs	04ceb42c03
20:57485394 GNAS C>T	20	57485394	57485394	C	T	GNAS	c.2905C>T	NM_080425.4	NP_536350.2:p.(Pro969Ser)	NC_000020.10:g.57485394C>T	VUS	2 labs	8168f21341
3:52327030 GLYCTK A>G	3	52327030	52327030	A	G	GLYCTK	c.1460A>G	NM_145262.4	NP_660305.2:p.(Asn487Ser)	NC_000003.11:g.52327030A>G	VUS	2 labs	04db257a74
17:7577539 TP53 G>A	17	7577539	7577539	G	A	TP53	c.742C>T	NM_001126114.3	NP_001119586.1:p.(Arg248Trp)	NC_000017.10:g.7577539G>A	(Likely) pathogenic	4 labs	04dd907ec4
14:88407873 GALC T>G	14	88407873	88407873	T	G	GALC	c.1700A>C	NM_000153.4	NP_000144.2:p.(Tyr567Ser)	NC_000014.8:g.88407873T>G	(Likely) pathogenic	4 labs	04e2db9d0a
11:108236045 ATM T>A	11	108236045	108236045	T	A	ATM	c.8988-7T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108236045T>A	(Likely) benign	2 labs	81de79c404
2:179435878 TTN G>A	2	179435878	179435878	G	A	TTN	c.74981C>T	NM_001267550.2	NP_001254479.2:p.(Pro24994Leu)	NC_000002.11:g.179435878G>A	VUS	3 labs	04f9493d81
2:220309892 SPEG C>T	2	220309892	220309892	C	T	SPEG	c.815+9C>T	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220309892C>T	(Likely) benign	2 labs	0c8fc25f80
11:22257740 ANO5 G>C	11	22257740	22257740	G	C	ANO5	c.680G>C	NM_213599.2	NP_998764.1:p.(Gly227Ala)	NC_000011.9:g.22257740G>C	(Likely) benign	2 labs	0c9381ba28
18:29122692 DSG2 C>T	18	29122692	29122692	C	T	DSG2	c.2211C>T	NM_001943.5	NP_001934.2:p.(Gly737=)	NC_000018.9:g.29122692C>T	(Likely) benign	4 labs	051255c705
16:56928519 SLC12A3 C>T	16	56928519	56928519	C	T	SLC12A3	c.2625C>T	NM_000339.3	NP_000330.3:p.(Gly875=)	NC_000016.9:g.56928519C>T	(Likely) benign	2 labs	0ca94dd19c
18:56376637 MALT1 A>G	18	56376637	56376637	A	G	MALT1	c.677A>G	NM_006785.4	NP_006776.1:p.(Lys226Arg)	NC_000018.9:g.56376637A>G	(Likely) benign	2 labs	0cad96d9b3
16:23646154 PALB2 T>C	16	23646154	23646154	T	C	PALB2	c.1684+29A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23646154T>C	(Likely) benign	2 labs	833c0cf041
3:167422676 PDCD10 C>T	3	167422676	167422676	C	T	PDCD10	c.104G>A	NM_145860.2	NP_665859.1:p.(Arg35Gln)	NC_000003.11:g.167422676C>T	(Likely) benign	4 labs	052c3c8c6e
3:37038201 MLH1 G>T	3	37038201	37038201	G	T	MLH1	c.207+1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37038201G>T	(Likely) pathogenic	2 labs	8366ac9478
11:108155240 ATM G>A	11	108155240	108155240	G	A	ATM	c.3993+40G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155240G>A	(Likely) benign	2 labs	83947b5f18
11:108114690 ATM T>C	11	108114690	108114690	T	C	ATM	c.507T>C	NM_000051.3	NP_000042.3:p.(Ser169=)	NC_000011.9:g.108114690T>C	(Likely) benign	2 labs	83c72f46f8
2:96961276 SNRNP200 G>A	2	96961276	96961276	G	A	SNRNP200	c.1792C>T	NM_014014.5	NP_054733.2:p.(Arg598Cys)	NC_000002.11:g.96961276G>A	VUS	2 labs	83bc4af397
16:23641057 PALB2 C>T	16	23641057	23641057	C	T	PALB2	c.2418G>A	NM_024675.4	NP_078951.2:p.(Pro806=)	NC_000016.9:g.23641057C>T	(Likely) benign	2 labs	8432e5a881
16:89620328 SPG7 G>A	16	89620328	89620328	G	A	SPG7	c.2063G>A	NM_003119.4	NP_003110.1:p.(Arg688Gln)	NC_000016.9:g.89620328G>A	(Likely) benign	2 labs	0cc7b013d7
16:67974003 LCAT C>T	16	67974003	67974003	C	T	LCAT	c.1127G>A	NM_000229.2	NP_000220.1:p.(Ser376Asn)	NC_000016.9:g.67974003C>T	VUS	2 labs	055351eeed
22:21350372 LZTR1 C>T	22	21350372	21350372	C	T	LZTR1	c.2190C>T	NM_006767.4	NP_006758.2:p.(Gly730=)	NC_000022.10:g.21350372C>T	VUS	2 labs	057631b00e
3:53700558 CACNA1D A>C	3	53700558	53700558	A	C	CACNA1D	c.1112A>C	NM_000720.4	NP_000711.1:p.(Tyr371Ser)	NC_000003.11:g.53700558A>C	VUS	3 labs	057c58aadc
12:32949101 PKP2 G>T	12	32949101	32949101	G	T	PKP2	c.2431C>A	NM_004572.4	NP_004563.2:p.(Arg811Ser)	NC_000012.11:g.32949101G>T	(Likely) benign	6 labs	059167d136
19:3119184 GNA11 T>G	19	3119184	3119184	T	G	GNA11	c.736-20T>G	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3119184T>G	(Likely) benign	2 labs	85228109b6
22:51064489 ARSA C>T	22	51064489	51064489	C	T	ARSA	c.982G>A	NM_000487.6	NP_000478.3:p.(Val328Met)	NC_000022.10:g.51064489C>T	VUS	2 labs	856cdc68b9
2:240002771 HDAC4 T>G	2	240002771	240002771	T	G	HDAC4	c.2735+20A>C	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240002771T>G	(Likely) benign	2 labs	05a525281d
20:42788320 JPH2 A>G	20	42788320	42788320	A	G	JPH2	c.1107T>C	NM_020433.5	NP_065166.2:p.(Ser369=)	NC_000020.10:g.42788320A>G	(Likely) benign	2 labs	85a4ab1fc5
2:179563576 TTN G>A	2	179563576	179563576	G	A	TTN	c.30748C>T	NM_001267550.2	NP_001254479.2:p.(Arg10250Cys)	NC_000002.11:g.179563576G>A	VUS	3 labs	05b9aec0f1
9:137708934 COL5A1 T>G	9	137708934	137708934	T	G	COL5A1	c.4176+9T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137708934T>G	(Likely) benign	3 labs	05ba1f21a5
4:114253138 ANK2 C>T	4	114253138	114253138	C	T	ANK2	c.3136C>T	NM_001148.6	NP_001139.3:p.(Leu1046=)	NC_000004.11:g.114253138C>T	(Likely) benign	2 labs	85ba652d08
2:179469715 TTN A>G	2	179469715	179469715	A	G	TTN	c.54189T>C	NM_001267550.2	NP_001254479.2:p.(Tyr18063=)	NC_000002.11:g.179469715A>G	(Likely) benign	6 labs	05c1cfa5ea
13:110813523 COL4A1 C>T	13	110813523	110813523	C	T	COL4A1	c.4640+16G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110813523C>T	(Likely) benign	3 labs	05c425e03d
2:1460004 TPO G>T	2	1460004	1460004	G	T	TPO	c.769G>T	NM_000547.6	NP_000538.3:p.(Ala257Ser)	NC_000002.11:g.1460004G>T	(Likely) benign	3 labs	05d5c3cfb9
10:88476087 LDB3 C>G	10	88476087	88476087	C	G	LDB3	c.1250C>G	NM_001171610.2	NP_001165081.1:p.(Pro417Arg)	NC_000010.10:g.88476087C>G	VUS	3 labs	05da220551
11:68562328 CPT1A C>T	11	68562328	68562328	C	T	CPT1A	c.823G>A	NM_001876.4	NP_001867.2:p.(Ala275Thr)	NC_000011.9:g.68562328C>T	(Likely) benign	2 labs	0bbf4d5005
13:32906786 BRCA2 T>C	13	32906786	32906786	T	C	BRCA2	c.1171T>C	NM_000059.4	NP_000050.3:p.(Leu391=)	NC_000013.10:g.32906786T>C	(Likely) benign	2 labs	869d830ba7
1:12024235 PLOD1 C>T	1	12024235	12024235	C	T	PLOD1	c.1206C>T	NM_000302.4	NP_000293.2:p.(Asn402=)	NC_000001.10:g.12024235C>T	(Likely) benign	2 labs	868873fcce
16:23635475 PALB2 A>G	16	23635475	23635475	A	G	PALB2	c.2749-60T>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23635475A>G	(Likely) benign	2 labs	86bddadd93
8:11615876 GATA4 A>C	8	11615876	11615876	A	C	GATA4	c.1221A>C	NM_002052.5	NP_002043.2:p.(Pro407=)	NC_000008.10:g.11615876A>C	(Likely) benign	2 labs	0d119d3c5f
19:36336332 NPHS1 C>A	19	36336332	36336332	C	A	NPHS1	c.1868G>T	NM_004646.3	NP_004637.1:p.(Cys623Phe)	NC_000019.9:g.36336332C>A	(Likely) pathogenic	3 labs	0d1335ebe3
2:179404327 TTN T>C	2	179404327	179404327	T	C	TTN	c.98465A>G	NM_001267550.2	NP_001254479.2:p.(Asp32822Gly)	NC_000002.11:g.179404327T>C	VUS	2 labs	06121e5990
18:29118899 DSG2 G>A	18	29118899	29118899	G	A	DSG2	c.1837G>A	NM_001943.5	NP_001934.2:p.(Ala613Thr)	NC_000018.9:g.29118899G>A	VUS	2 labs	9de795f384
10:88441437 LDB3 C>T	10	88441437	88441437	C	T	LDB3	c.566C>T	NM_001171610.2	NP_001165081.1:p.(Ser189Leu)	NC_000010.10:g.88441437C>T	(Likely) benign	5 labs	061a830272
16:70287177 AARS1 A>G	16	70287177	70287177	A	G	AARS1	c.2715T>C	NM_001605.3	NP_001596.2:p.(Val905=)	NC_000016.9:g.70287177A>G	(Likely) benign	2 labs	061b279d32
6:157100348 ARID1B A>G	6	157100348	157100348	A	G	ARID1B	c.1534A>G	NM_001371656.1	NP_001358585.1:p.(Met512Val)	NC_000006.11:g.157100348A>G	(Likely) benign	3 labs	06229f8c57
6:7583918 DSP C>A	6	7583918	7583918	C	A	DSP	c.6423C>A	NM_004415.2	NP_004406.2:p.(Val2141=)	NC_000006.11:g.7583918C>A	(Likely) benign	2 labs	34fd11a9d1
13:32932014 BRCA2 G>A	13	32932014	32932014	G	A	BRCA2	c.7753G>A	NM_000059.4	NP_000050.3:p.(Gly2585Arg)	NC_000013.10:g.32932014G>A	(Likely) pathogenic	3 labs	062c0b1238
11:108143383 ATM C>T	11	108143383	108143383	C	T	ATM	c.3153+49C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108143383C>T	(Likely) benign	2 labs	883359675a
21:45709656 AIRE C>T	21	45709656	45709656	C	T	AIRE	c.769C>T	NM_000383.4	NP_000374.1:p.(Arg257Ter)	NC_000021.8:g.45709656C>T	(Likely) pathogenic	4 labs	063fb244d3
2:179415832 TTN C>T	2	179415832	179415832	C	T	TTN	c.91426G>A	NM_001267550.2	NP_001254479.2:p.(Val30476Ile)	NC_000002.11:g.179415832C>T	VUS	2 labs	065459b0dc
12:106838340 POLR3B T>C	12	106838340	106838340	T	C	POLR3B	c.2055T>C	NM_018082.6	NP_060552.4:p.(Tyr685=)	NC_000012.11:g.106838340T>C	(Likely) benign	2 labs	0663e96d46
19:3119239 GNA11 C>T	19	3119239	3119239	C	T	GNA11	c.771C>T	NM_002067.5	NP_002058.2:p.(Thr257=)	NC_000019.9:g.3119239C>T	(Likely) benign	2 labs	8969497e78
11:47367916 MYBPC3 G>T	11	47367916	47367916	G	T	MYBPC3	c.932C>A	NM_000256.3	NP_000247.2:p.(Ser311Ter)	NC_000011.9:g.47367916G>T	(Likely) pathogenic	4 labs	066e4c3c88
1:3328796 PRDM16 G>A	1	3328796	3328796	G	A	PRDM16	c.2035G>A	NM_022114.4	NP_071397.3:p.(Asp679Asn)	NC_000001.10:g.3328796G>A	VUS	3 labs	067167ee52
2:166895913 SCN1A CTTTT>C	2	166895913	166895930	CTTTT	C	SCN1A	c.2589+16_2589+19del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166895927_166895930del	(Likely) benign	2 labs	0d5629ebce
2:179486459 TTN GCTT>G	2	179486459	179486470	GCTT	G	TTN	c.45089_45091del	NM_001267550.2	NP_001254479.2:p.(Glu15030del)	NC_000002.11:g.179486468_179486470del	VUS	2 labs	8a0ae86134
11:64573240 MEN1 T>C	11	64573240	64573240	T	C	MEN1	c.1067A>G	NM_000244.3	NP_000235.2:p.(Tyr356Cys)	NC_000011.9:g.64573240T>C	(Likely) pathogenic	2 labs	0d57c28f4e
1:46655158 POMGNT1 T>C	1	46655158	46655158	T	C	POMGNT1	c.1867A>G	NM_001243766.2	NP_001230695.2:p.(Met623Val)	NC_000001.10:g.46655158T>C	(Likely) benign	3 labs	0685a5c70e
9:137676938 COL5A1 A>T	9	137676938	137676938	A	T	COL5A1	c.2588A>T	NM_000093.5	NP_000084.3:p.(Glu863Val)	NC_000009.11:g.137676938A>T	(Likely) benign	2 labs	0687797c4a
22:34022284 LARGE1 G>A	22	34022284	34022284	G	A	LARGE1	c.435C>T	NM_004737.7	NP_004728.1:p.(Ala145=)	NC_000022.10:g.34022284G>A	(Likely) benign	3 labs	0688cd95a8
22:29130534 CHEK2 G>T	22	29130534	29130534	G	T	CHEK2	c.176C>A	NM_007194.4	NP_009125.1:p.(Thr59Lys)	NC_000022.10:g.29130534G>T	VUS	2 labs	0696b74cd2
1:215823987 USH2A TC>T	1	215823987	215823990	TC	T	USH2A	c.14289del	NM_206933.4	NP_996816.3:p.(Ile4764SerfsTer42)	NC_000001.10:g.215823990del	(Likely) pathogenic	2 labs	8aa4b7c82e
17:17118598 FLCN C>T	17	17118598	17118598	C	T	FLCN	c.1333G>A	NM_144997.7	NP_659434.2:p.(Ala445Thr)	NC_000017.10:g.17118598C>T	(Likely) benign	5 labs	06984e9067
15:48818478 FBN1 G>A	15	48818478	48818478	G	A	FBN1	c.863-26C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818478G>A	(Likely) benign	3 labs	069b06b889
13:32936880 BRCA2 G>C	13	32936880	32936880	G	C	BRCA2	c.7976+50G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936880G>C	(Likely) benign	2 labs	8aff7da51f
4:120107272 MYOZ2 G>A	4	120107272	120107272	G	A	MYOZ2	c.712G>A	NM_016599.5	NP_057683.1:p.(Gly238Arg)	NC_000004.11:g.120107272G>A	VUS	4 labs	069efd1a3d
4:5586367 EVC2 G>C	4	5586367	5586367	G	C	EVC2	c.3040C>G	NM_147127.5	NP_667338.3:p.(Leu1014Val)	NC_000004.11:g.5586367G>C	(Likely) benign	2 labs	0d5afe164d
4:15572091 CC2D2A C>T	4	15572091	15572091	C	T	CC2D2A	c.3566C>T	NM_001080522.2	NP_001073991.2:p.(Pro1189Leu)	NC_000004.11:g.15572091C>T	VUS	2 labs	06a6202696
16:89815152 FANCA G>A	16	89815152	89815152	G	A	FANCA	c.3263C>T	NM_000135.4	NP_000126.2:p.(Ser1088Phe)	NC_000016.9:g.89815152G>A	(Likely) benign	3 labs	0c6a6d15f4
10:121431970 BAG3 G>C	10	121431970	121431970	G	C	BAG3	c.711G>C	NM_004281.4	NP_004272.2:p.(Gln237His)	NC_000010.10:g.121431970G>C	VUS	2 labs	8b4d8db038
14:23857356 MYH6 T>G	14	23857356	23857356	T	G	MYH6	c.4359+8A>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857356T>G	(Likely) benign	3 labs	06e7d93cb9
13:110813532 COL4A1 G>A	13	110813532	110813532	G	A	COL4A1	c.4640+7C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110813532G>A	(Likely) benign	3 labs	06f8d84468
1:45797139 MUTYH G>A	1	45797139	45797139	G	A	MUTYH	c.1276C>T	NM_001128425.2	NP_001121897.1:p.(Arg426Cys)	NC_000001.10:g.45797139G>A	VUS	4 labs	06fc0c5ee7
9:113449489 MUSK C>T	9	113449489	113449489	C	T	MUSK	c.299C>T	NM_005592.4	NP_005583.1:p.(Thr100Met)	NC_000009.11:g.113449489C>T	(Likely) benign	2 labs	342b1ef855
2:47614114 EPCAM A>G	2	47614114	47614114	A	G	EPCAM	c.*362A>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47614114A>G	(Likely) benign	2 labs	8d533929be
14:64580122 SYNE2 C>T	14	64580122	64580122	C	T	SYNE2	c.12673C>T	NM_182914.2	NP_878918.2:p.(Pro4225Ser)	NC_000014.8:g.64580122C>T	(Likely) benign	2 labs	0d81a60f88
2:215632192 BARD1 G>A	2	215632192	215632192	G	A	BARD1				NC_000002.11:g.215632192G>A	(Likely) benign	2 labs	8d84cd7401
13:32936887 BRCA2 G>C	13	32936887	32936887	G	C	BRCA2	c.7976+57G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936887G>C	(Likely) benign	2 labs	8d9711a9fe
11:111782297 CRYAB G>A	11	111782297	111782297	G	A	CRYAB	c.152C>T	NM_001885.3	NP_001876.1:p.(Pro51Leu)	NC_000011.9:g.111782297G>A	(Likely) benign	5 labs	075679cbac
17:56774236 RAD51C A>G	17	56774236	56774236	A	G	RAD51C	c.571+16A>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56774236A>G	(Likely) benign	2 labs	8f132689ae
12:40716260 LRRK2 T>C	12	40716260	40716260	T	C	LRRK2	c.5457T>C	NM_198578.4	NP_940980.4:p.(Gly1819=)	NC_000012.11:g.40716260T>C	(Likely) benign	4 labs	0757a6479d
5:1255520 TERT G>A	5	1255520	1255520	G	A	TERT	c.3039C>T	NM_198253.2	NP_937983.2:p.(His1013=)	NC_000005.9:g.1255520G>A	(Likely) benign	2 labs	8f2834d761
11:73814412 C2CD3 C>T	11	73814412	73814412	C	T	C2CD3	c.2344G>A	NM_001286577.1	NP_001273506.1:p.(Val782Ile)	NC_000011.9:g.73814412C>T	(Likely) benign	2 labs	0dac96b425
3:38521156 ACVR2B T>C	3	38521156	38521156	T	C	ACVR2B	c.811-13T>C	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38521156T>C	(Likely) benign	4 labs	07794588c3
21:47540421 COL6A2 T>C	21	47540421	47540421	T	C	COL6A2	c.1333-8T>C	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47540421T>C	(Likely) benign	2 labs	8f7db55a1b
18:29125833 DSG2 T>C	18	29125833	29125833	T	C	DSG2	c.2484T>C	NM_001943.5	NP_001934.2:p.(Asp828=)	NC_000018.9:g.29125833T>C	(Likely) benign	4 labs	077c8a25be
12:48398002 COL2A1 G>C	12	48398002	48398002	G	C	COL2A1	c.85+18C>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48398002G>C	(Likely) benign	4 labs	0780521c15
19:50140068 RRAS C>T	19	50140068	50140068	C	T	RRAS	c.344+13G>A	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50140068C>T	(Likely) benign	2 labs	8f9a64888d
1:247587529 NLRP3 C>T	1	247587529	247587529	C	T	NLRP3	c.784C>T	NM_004895.5	NP_004886.3:p.(Arg262Ter)	NC_000001.10:g.247587529C>T	(Likely) pathogenic	3 labs	078513ac00
1:237863659 RYR2 C>T	1	237863659	237863659	C	T	RYR2	c.9259C>T	NM_001035.3	NP_001026.2:p.(Pro3087Ser)	NC_000001.10:g.237863659C>T	VUS	3 labs	078ff26d05
17:7578263 TP53 G>A	17	7578263	7578263	G	A	TP53	c.586C>T	NM_000546.5	NP_000537.3:p.(Arg196Ter)	NC_000017.10:g.7578263G>A	(Likely) pathogenic	2 labs	8fee7296c5
11:108201108 ATM T>G	11	108201108	108201108	T	G	ATM	c.7475T>G	NM_000051.4	NP_000042.3:p.(Leu2492Arg)	NC_000011.9:g.108201108T>G	VUS	5 labs	079a5bb6ce
X:32482710 DMD T>A	X	32482710	32482710	T	A	DMD	c.2900A>T	NM_004010.3	NP_004001.1:p.(Gln967Leu)	NC_000023.10:g.32482710T>A	(Likely) benign	2 labs	0dd17ed888
15:73621931 HCN4 G>A	15	73621931	73621931	G	A	HCN4	c.1573C>T	NM_005477.3	NP_005468.1:p.(Arg525Cys)	NC_000015.9:g.73621931G>A	VUS	2 labs	07b30fb4f3
6:44275011 AARS2 T>C	6	44275011	44275011	T	C	AARS2	c.1015A>G	NM_020745.4	NP_065796.2:p.(Ile339Val)	NC_000006.11:g.44275011T>C	(Likely) benign	2 labs	07b3eecb61
2:179392456 TTN G>A	2	179392456	179392456	G	A	TTN	c.107397C>T	NM_001267550.2	NP_001254479.2:p.(Ser35799=)	NC_000002.11:g.179392456G>A	(Likely) benign	5 labs	07b4872ecc
9:139399508 NOTCH1 G>A	9	139399508	139399508	G	A	NOTCH1	c.4635C>T	NM_017617.5	NP_060087.3:p.(Cys1545=)	NC_000009.11:g.139399508G>A	(Likely) benign	2 labs	9105a4f935
1:237778041 RYR2 C>T	1	237778041	237778041	C	T	RYR2	c.5613C>T	NM_001035.3	NP_001026.2:p.(Asp1871=)	NC_000001.10:g.237778041C>T	(Likely) benign	3 labs	07ceb701b7
X:153005605 ABCD1 G>A	X	153005605	153005605	G	A	ABCD1	c.1548G>A	NM_000033.4	NP_000024.2:p.(Leu516=)	NC_000023.10:g.153005605G>A	(Likely) benign	2 labs	9145473018
6:51924774 PKHD1 A>G	6	51924774	51924774	A	G	PKHD1	c.1185T>C	NM_138694.4	NP_619639.3:p.(Asp395=)	NC_000006.11:g.51924774A>G	(Likely) benign	2 labs	07dd56dc77
3:52486129 TNNC1 G>A	3	52486129	52486129	G	A	TNNC1	c.195C>T	NM_003280.3	NP_003271.1:p.(Asp65=)	NC_000003.11:g.52486129G>A	(Likely) benign	3 labs	07e3892b74
16:89623405 SPG7 C>T	16	89623405	89623405	C	T	SPG7	c.2292C>T	NM_003119.4	NP_003110.1:p.(Ile764=)	NC_000016.9:g.89623405C>T	(Likely) benign	2 labs	0de2bc8674
3:37090509 MLH1 G>A	3	37090509	37090509	G	A	MLH1	c.2103+1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37090509G>A	(Likely) pathogenic	2 labs	91a70fce5d
1:11182036 MTOR C>T	1	11182036	11182036	C	T	MTOR	c.6810G>A	NM_004958.4	NP_004949.1:p.(Arg2270=)	NC_000001.10:g.11182036C>T	(Likely) benign	2 labs	07e63a9f11
11:108151688 ATM T>A	11	108151688	108151688	T	A	ATM	c.3403-34T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108151688T>A	(Likely) benign	2 labs	91c30b8c3b
1:3328393 PRDM16 C>T	1	3328393	3328393	C	T	PRDM16	c.1632C>T	NM_022114.4	NP_071397.3:p.(Asp544=)	NC_000001.10:g.3328393C>T	(Likely) benign	5 labs	07eea82f03
19:1218510 STK11 C>T	19	1218510	1218510	C	T	STK11	c.374+11C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1218510C>T	(Likely) benign	2 labs	91dd86c3cc
11:47371598 MYBPC3 C>T	11	47371598	47371598	C	T	MYBPC3	c.472G>A	NM_000256.3	NP_000247.2:p.(Val158Met)	NC_000011.9:g.47371598C>T	(Likely) benign	5 labs	07f3dd09ca
16:2161233 PKD1 C>T	16	2161233	2161233	C	T	PKD1	c.3935G>A	NM_001009944.2	NP_001009944.2:p.(Arg1312Gln)	NC_000016.9:g.2161233C>T	(Likely) benign	2 labs	0df5285ce1
18:29178618 TTR G>A	18	29178618	29178618	G	A	TTR	c.424G>A	NM_000371.4	NP_000362.1:p.(Val142Ile)	NC_000018.9:g.29178618G>A	(Likely) pathogenic	6 labs	080040f59f
13:32929301 BRCA2 T>G	13	32929301	32929301	T	G	BRCA2	c.7311T>G	NM_000059.3	NP_000050.2:p.(Ile2437Met)	NC_000013.10:g.32929301T>G	(Likely) benign	2 labs	929a20dbbd
1:236882303 ACTN2 T>C	1	236882303	236882303	T	C	ACTN2	c.351T>C	NM_001103.4	NP_001094.1:p.(Ile117=)	NC_000001.10:g.236882303T>C	(Likely) benign	2 labs	0808dce479
1:25893367 LDLRAP1 G>A	1	25893367	25893367	G	A	LDLRAP1	c.811G>A	NM_015627.3	NP_056442.2:p.(Val271Ile)	NC_000001.10:g.25893367G>A	(Likely) benign	2 labs	080af84312
2:47613825 EPCAM C>T	2	47613825	47613825	C	T	EPCAM	c.*73C>T	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613825C>T	(Likely) benign	2 labs	92c3a9899e
3:8775526 CAV3 G>A	3	8775526	8775526	G	A	CAV3	c.-37G>A	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8775526G>A	(Likely) benign	4 labs	080b9b5b56
8:31024654 WRN T>C	8	31024654	31024654	T	C	WRN	c.4099T>C	NM_000553.6	NP_000544.2:p.(Cys1367Arg)	NC_000008.10:g.31024654T>C	(Likely) benign	2 labs	080ed3ad38
12:52867341 KRT6C G>A	12	52867341	52867341	G	A	KRT6C	c.181C>T	NM_173086.5	NP_775109.2:p.(Leu61=)	NC_000012.11:g.52867341G>A	(Likely) benign	2 labs	080eeca725
4:6292915 WFS1 A>G	4	6292915	6292915	A	G	WFS1	c.461-9A>G	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6292915A>G	(Likely) benign	4 labs	081b80c528
2:179452031 TTN C>T	2	179452031	179452031	C	T	TTN	c.56203G>A	NM_133378.4	NP_596869.4:p.(Val18735Met)	NC_000002.11:g.179452031C>T	VUS	2 labs	081f4bc796
10:90773948 FAS G>C	10	90773948	90773948	G	C	FAS	c.686G>C	NM_152871.4	NP_690610.1:p.(Arg229Pro)	NC_000010.10:g.90773948G>C	(Likely) pathogenic	2 labs	0e1973adc5
6:129714214 LAMA2 AG>A	6	129714214	129714215	AG	A	LAMA2	c.5260del	NM_000426.4	NP_000417.3:p.(Val1754Ter)	NC_000006.11:g.129714215del	(Likely) pathogenic	5 labs	083bdcec46
12:32974477 PKP2 A>C	12	32974477	32974477	A	C	PKP2	c.1972-14T>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32974477A>C	VUS	2 labs	9fd8d0a821
12:103352171 ASCL1 C>CGCA	12	103352171	103352208	C	CGCA	ASCL1	c.184_186dup	NM_004316.4	NP_004307.2:p.(Gln62dup)	NC_000012.11:g.103352206_103352208dup	(Likely) benign	3 labs	084545e8a8
4:119237348 PRSS12 T>C	4	119237348	119237348	T	C	PRSS12	c.1281A>G	NM_003619.4	NP_003610.2:p.(Gln427=)	NC_000004.11:g.119237348T>C	(Likely) benign	2 labs	084fee79e4
7:107559722 DLD A>T	7	107559722	107559722	A	T	DLD	c.*18A>T	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107559722A>T	(Likely) benign	3 labs	085a040b18
9:140865972 CACNA1B G>A	9	140865972	140865972	G	A	CACNA1B	c.1471G>A	NM_000718.4	NP_000709.1:p.(Val491Met)	NC_000009.11:g.140865972G>A	VUS	2 labs	0876954a52
13:32921010 BRCA2 G>T	13	32921010	32921010	G	T	BRCA2	c.6984G>T	NM_000059.3	NP_000050.2:p.(Glu2328Asp)	NC_000013.10:g.32921010G>T	(Likely) benign	2 labs	9533f6860e
10:121431904 BAG3 C>T	10	121431904	121431904	C	T	BAG3	c.645C>T	NM_004281.4	NP_004272.2:p.(Asn215=)	NC_000010.10:g.121431904C>T	(Likely) benign	2 labs	952f041a2e
X:32717258 DMD A>G	X	32717258	32717258	A	G	DMD	c.433T>C	NM_004010.3	NP_004001.1:p.(Leu145=)	NC_000023.10:g.32717258A>G	(Likely) benign	2 labs	0894d3ee5f
7:56087374 PSPH C>T	7	56087374	56087374	C	T	PSPH	c.194G>A	NM_004577.4	NP_004568.2:p.(Arg65His)	NC_000007.13:g.56087374C>T	(Likely) benign	2 labs	0895a5b475
2:200213882 SATB2 G>A	2	200213882	200213882	G	A	SATB2	c.715C>T	NM_001172509.2	NP_001165980.1:p.(Arg239Ter)	NC_000002.11:g.200213882G>A	(Likely) pathogenic	2 labs	0898ed156c
8:19811733 LPL G>A	8	19811733	19811733	G	A	LPL	c.644G>A	NM_000237.3	NP_000228.1:p.(Gly215Glu)	NC_000008.10:g.19811733G>A	(Likely) pathogenic	2 labs	957e2038dc
8:126085586 WASHC5 G>A	8	126085586	126085586	G	A	WASHC5	c.979-20C>T	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126085586G>A	(Likely) benign	2 labs	08a7acf4f1
13:32910496 BRCA2 G>A	13	32910496	32910496	G	A	BRCA2	c.2004G>A	NM_000059.3	NP_000050.2:p.(Arg668=)	NC_000013.10:g.32910496G>A	(Likely) benign	2 labs	95b44f078c
2:166895913 SCN1A CTT>C	2	166895913	166895930	CTT	C	SCN1A	c.2589+18_2589+19del	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166895929_166895930del	(Likely) benign	3 labs	08b583fe15
13:32910721 BRCA2 T>C	13	32910721	32910721	T	C	BRCA2	c.2229T>C	NM_000059.4	NP_000050.3:p.(His743=)	NC_000013.10:g.32910721T>C	(Likely) benign	6 labs	08b705510d
11:108128204 ATM A>G	11	108128204	108128204	A	G	ATM	c.2251-4A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128204A>G	VUS	2 labs	08ba656e61
15:63356332 TPM1 T>C	15	63356332	63356332	T	C	TPM1	c.842T>C	NM_000366.6	NP_000357.3:p.(Met281Thr)	NC_000015.9:g.63356332T>C	(Likely) pathogenic	2 labs	966fc05337
8:145639726 SLC39A4 T>C	8	145639726	145639726	T	C	SLC39A4	c.994A>G	NM_017767.3	NP_060237.3:p.(Thr332Ala)	NC_000008.10:g.145639726T>C	(Likely) benign	2 labs	08ba885ceb
1:215914751 USH2A G>T	1	215914751	215914751	G	T	USH2A	c.11677C>A	NM_206933.4	NP_996816.3:p.(Pro3893Thr)	NC_000001.10:g.215914751G>T	(Likely) benign	2 labs	08c00511df
2:179498716 TTN C>G	2	179498716	179498716	C	G	TTN	c.42510G>C	NM_001267550.2	NP_001254479.2:p.(Met14170Ile)	NC_000002.11:g.179498716C>G	VUS	2 labs	08c3184e87
1:43396414 SLC2A1 G>A	1	43396414	43396414	G	A	SLC2A1	c.399C>T	NM_006516.4	NP_006507.2:p.(Cys133=)	NC_000001.10:g.43396414G>A	(Likely) benign	5 labs	08c5ba003a
11:116706723 APOA1 A>G	11	116706723	116706723	A	G	APOA1	c.605T>C	NM_000039.3	NP_000030.1:p.(Leu202Pro)	NC_000011.9:g.116706723A>G	(Likely) pathogenic	2 labs	08ca30c3cf
1:183532364 NCF2 T>A	1	183532364	183532364	T	A	NCF2	c.1256A>T	NM_000433.4	NP_000424.2:p.(Asn419Ile)	NC_000001.10:g.183532364T>A	(Likely) benign	3 labs	08cd1a3e0c
2:179447007 TTN C>T	2	179447007	179447007	C	T	TTN	c.66160+16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179447007C>T	(Likely) benign	4 labs	08cd25e625
16:30732644 SRCAP C>T	16	30732644	30732644	C	T	SRCAP	c.3388C>T	NM_006662.3	NP_006653.2:p.(Pro1130Ser)	NC_000016.9:g.30732644C>T	(Likely) benign	5 labs	08d63a3f87
14:88431898 GALC C>T	14	88431898	88431898	C	T	GALC	c.984G>A	NM_000153.4	NP_000144.2:p.(Gln328=)	NC_000014.8:g.88431898C>T	(Likely) benign	3 labs	08d85e03ff
15:34528948 SLC12A6 G>A	15	34528948	34528948	G	A	SLC12A6	c.2976C>T	NM_001042496.2	NP_001035961.1:p.(Leu992=)	NC_000015.9:g.34528948G>A	(Likely) benign	2 labs	08dcccb9f3
13:32912622 BRCA2 A>T	13	32912622	32912622	A	T	BRCA2	c.4130A>T	NM_000059.3	NP_000050.2:p.(Asn1377Ile)	NC_000013.10:g.32912622A>T	VUS	2 labs	0e76581a18
14:23855512 MYH6 G>A	14	23855512	23855512	G	A	MYH6	c.4959+12C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23855512G>A	(Likely) benign	2 labs	0e78e8b7d1
18:57115203 CCBE1 T>C	18	57115203	57115203	T	C	CCBE1	c.775+12A>G	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57115203T>C	(Likely) benign	2 labs	08e7780572
2:26741961 OTOF G>A	2	26741961	26741961	G	A	OTOF	c.244C>T	NM_194248.3	NP_919224.1:p.(Arg82Cys)	NC_000002.11:g.26741961G>A	(Likely) benign	2 labs	08ea1a5a82
12:48372413 COL2A1 G>A	12	48372413	48372413	G	A	COL2A1	c.2862C>T	NM_001844.5	NP_001835.3:p.(Gly954=)	NC_000012.11:g.48372413G>A	(Likely) pathogenic	2 labs	98033fad51
16:88782212 PIEZO1 C>T	16	88782212	88782212	C	T	PIEZO1	c.7367G>A	NM_001142864.4	NP_001136336.2:p.(Arg2456His)	NC_000016.9:g.88782212C>T	(Likely) pathogenic	2 labs	0e8e192ead
5:176831232 F12 G>T	5	176831232	176831232	G	T	F12	c.983C>A	NM_000505.4	NP_000496.2:p.(Thr328Lys)	NC_000005.9:g.176831232G>T	(Likely) pathogenic	3 labs	08f134940f
2:166166923 SCN2A C>T	2	166166923	166166923	C	T	SCN2A	c.788C>T	NM_021007.3	NP_066287.2:p.(Ala263Val)	NC_000002.11:g.166166923C>T	(Likely) pathogenic	2 labs	0e9e0badc1
19:55667647 TNNI3 C>A	19	55667647	55667647	C	A	TNNI3	c.204G>T	NM_000363.5	NP_000354.4:p.(Arg68=)	NC_000019.9:g.55667647C>A	(Likely) benign	6 labs	08f52965f2
1:116268178 CASQ2 GA>G	1	116268178	116268201	GA	G	CASQ2	c.738-5del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268201del	(Likely) benign	3 labs	0e9c254b0d
17:68171832 KCNJ2 C>T	17	68171832	68171832	C	T	KCNJ2	c.652C>T	NM_000891.3	NP_000882.1:p.(Arg218Trp)	NC_000017.10:g.68171832C>T	(Likely) pathogenic	2 labs	98c8970007
2:47601029 EPCAM G>C	2	47601029	47601029	G	C	EPCAM	c.267G>C	NM_002354.3	NP_002345.2:p.(Gln89His)	NC_000002.11:g.47601029G>C	(Likely) benign	5 labs	0902a4c3c6
11:108143580 ATM G>A	11	108143580	108143580	G	A	ATM	c.3284+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143580G>A	(Likely) pathogenic	2 labs	98ecc6a7c0
7:77708259 MAGI2 C>T	7	77708259	77708259	C	T	MAGI2	c.3706+5G>A	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77708259C>T	(Likely) benign	2 labs	0ea24d4830
13:32912385 BRCA2 T>C	13	32912385	32912385	T	C	BRCA2	c.3893T>C	NM_000059.3	NP_000050.2:p.(Ile1298Thr)	NC_000013.10:g.32912385T>C	(Likely) benign	2 labs	990b641af5
19:49519873 LHB G>C	19	49519873	49519873	G	C	LHB	c.114C>G	NM_000894.3	NP_000885.1:p.(Val38=)	NC_000019.9:g.49519873G>C	(Likely) benign	2 labs	090c8c383a
17:7579801 TP53 G>C	17	7579801	7579801	G	C	TP53				NC_000017.10:g.7579801G>C	(Likely) benign	2 labs	996b63fa0f
18:44063598 LOXHD1 G>A	18	44063598	44063598	G	A	LOXHD1	c.6107C>T	NM_144612.7	NP_653213.6:p.(Ala2036Val)	NC_000018.9:g.44063598G>A	(Likely) benign	2 labs	09141e60e4
16:1251803 CACNA1H C>T	16	1251803	1251803	C	T	CACNA1H	c.1353C>T	NM_021098.3	NP_066921.2:p.(Ser451=)	NC_000016.9:g.1251803C>T	(Likely) benign	2 labs	0ead77dbf7
2:71163163 ATP6V1B1 C>T	2	71163163	71163163	C	T	ATP6V1B1	c.79C>T	NM_001692.4	NP_001683.2:p.(Gln27Ter)	NC_000002.11:g.71163163C>T	(Likely) pathogenic	2 labs	0eae0d03a8
16:50745117 NOD2 C>T	16	50745117	50745117	C	T	NOD2	c.1295C>T	NM_022162.3	NP_071445.1:p.(Ala432Val)	NC_000016.9:g.50745117C>T	VUS	2 labs	0922ff6e26
1:74836026 TNNI3K G>C	1	74836026	74836026	G	C	TNNI3K	c.1722G>C	NM_015978.3	NP_057062.1:p.(Met574Ile)	NC_000001.10:g.74836026G>C	VUS	4 labs	0925417891
2:96952769 SNRNP200 G>A	2	96952769	96952769	G	A	SNRNP200	c.3614C>T	NM_014014.5	NP_054733.2:p.(Thr1205Met)	NC_000002.11:g.96952769G>A	VUS	2 labs	99bcef3ed7
18:48604848 SMAD4 C>T	18	48604848	48604848	C	T	SMAD4	c.*11C>T	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48604848C>T	(Likely) benign	2 labs	0ec6f3f782
4:39276477 WDR19 C>T	4	39276477	39276477	C	T	WDR19	c.3615C>T	NM_025132.4	NP_079408.3:p.(Gly1205=)	NC_000004.11:g.39276477C>T	(Likely) benign	2 labs	0943bdfb40
2:179575620 TTN G>A	2	179575620	179575620	G	A	TTN	c.28204C>T	NM_001267550.2	NP_001254479.2:p.(Arg9402Cys)	NC_000002.11:g.179575620G>A	VUS	3 labs	094cc901c0
4:1808659 FGFR3 G>A	4	1808659	1808659	G	A	FGFR3	c.2272G>A	NM_000142.5	NP_000133.1:p.(Asp758Asn)	NC_000004.11:g.1808659G>A	VUS	2 labs	095857acfb
11:17496516 ABCC8 A>G	11	17496516	17496516	A	G	ABCC8	c.207T>C	NM_000352.6	NP_000343.2:p.(Pro69=)	NC_000011.9:g.17496516A>G	(Likely) benign	3 labs	095c3218b8
2:238243533 COL6A3 C>G	2	238243533	238243533	C	G	COL6A3	c.8966-1G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238243533C>G	(Likely) pathogenic	2 labs	9abe2b4db6
16:68389657 PRMT7 C>G	16	68389657	68389657	C	G	PRMT7	c.1682C>G	NM_019023.5	NP_061896.1:p.(Ala561Gly)	NC_000016.9:g.68389657C>G	VUS	2 labs	095d28bd64
2:182414358 CERKL T>C	2	182414358	182414358	T	C	CERKL	c.973+3A>G	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182414358T>C	(Likely) benign	2 labs	095ebc081f
16:16263663 ABCC6 G>A	16	16263663	16263663	G	A	ABCC6	c.2835C>T	NM_001171.6	NP_001162.5:p.(Pro945=)	NC_000016.9:g.16263663G>A	(Likely) benign	2 labs	0965c780ca
11:36614561 RAG2 G>T	11	36614561	36614561	G	T	RAG2	c.1158C>A	NM_001243786.2	NP_001230715.1:p.(Phe386Leu)	NC_000011.9:g.36614561G>T	(Likely) benign	2 labs	096b0f3ee0
10:88445421 LDB3 C>T	10	88445421	88445421	C	T	LDB3	c.690-1405C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88445421C>T	(Likely) benign	3 labs	0970f26e05
18:55364852 ATP8B1 A>G	18	55364852	55364852	A	G	ATP8B1	c.696T>C	NM_005603.6	NP_005594.2:p.(Asp232=)	NC_000018.9:g.55364852A>G	(Likely) benign	2 labs	097364b6dc
16:23641393 PALB2 T>C	16	23641393	23641393	T	C	PALB2	c.2082A>G	NM_024675.4	NP_078951.2:p.(Thr694=)	NC_000016.9:g.23641393T>C	(Likely) benign	3 labs	0ef609b058
2:179442020 TTN A>G	2	179442020	179442020	A	G	TTN	c.69042T>C	NM_001267550.2	NP_001254479.2:p.(Asp23014=)	NC_000002.11:g.179442020A>G	(Likely) benign	2 labs	09742764ed
3:37055988 MLH1 A>G	3	37055988	37055988	A	G	MLH1	c.743A>G	NM_000249.4	NP_000240.1:p.(Asn248Ser)	NC_000003.11:g.37055988A>G	(Likely) benign	2 labs	097a3d6801
2:179597590 TTN T>C	2	179597590	179597590	T	C	TTN	c.16313A>G	NM_001267550.2	NP_001254479.2:p.(Lys5438Arg)	NC_000002.11:g.179597590T>C	(Likely) benign	6 labs	097c47928b
2:179604053 TTN T>C	2	179604053	179604053	T	C	TTN	c.13907A>G	NM_001267550.2	NP_001254479.2:p.(Asn4636Ser)	NC_000002.11:g.179604053T>C	VUS	2 labs	0f053f8411
1:3322044 PRDM16 C>T	1	3322044	3322044	C	T	PRDM16	c.1033-15C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3322044C>T	(Likely) benign	2 labs	098d83d8be
1:119683231 WARS2 A>C	1	119683231	119683231	A	C	WARS2	c.37T>G	NM_015836.4	NP_056651.1:p.(Trp13Gly)	NC_000001.10:g.119683231A>C	(Likely) pathogenic	3 labs	0992b61f61
11:103080607 DYNC2H1 A>G	11	103080607	103080607	A	G	DYNC2H1	c.8457A>G	NM_001080463.2	NP_001073932.1:p.(Ile2819Met)	NC_000011.9:g.103080607A>G	(Likely) pathogenic	2 labs	9c57dd3591
16:23563501 EARS2 C>T	16	23563501	23563501	C	T	EARS2	c.264G>A	NM_001083614.2	NP_001077083.1:p.(Ala88=)	NC_000016.9:g.23563501C>T	(Likely) benign	2 labs	099f9658b4
1:179520506 NPHS2 G>A	1	179520506	179520506	G	A	NPHS2	c.954C>T	NM_014625.4	NP_055440.1:p.(Ala318=)	NC_000001.10:g.179520506G>A	(Likely) benign	3 labs	09a1435706
14:74999213 LTBP2 C>T	14	74999213	74999213	C	T	LTBP2	c.1903G>A	NM_000428.3	NP_000419.1:p.(Ala635Thr)	NC_000014.8:g.74999213C>T	VUS	2 labs	2050598a54
17:10432638 MYH2 T>C	17	10432638	10432638	T	C	MYH2	c.3263+15A>G	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10432638T>C	(Likely) benign	2 labs	09ab39d242
14:74753426 ABCD4 C>T	14	74753426	74753426	C	T	ABCD4	c.1730G>A	NM_005050.4	NP_005041.1:p.(Gly577Glu)	NC_000014.8:g.74753426C>T	VUS	2 labs	a450ed3880
1:103379918 COL11A1 G>A	1	103379918	103379918	G	A	COL11A1	c.4004C>T	NM_080629.3	NP_542196.2:p.(Pro1335Leu)	NC_000001.10:g.103379918G>A	(Likely) benign	2 labs	09aea20ad5
1:154571038 ADAR T>C	1	154571038	154571038	T	C	ADAR	c.740A>G	NM_001193495.2	NP_001180424.1:p.(Asn247Ser)	NC_000001.10:g.154571038T>C	(Likely) benign	3 labs	09aed4ba55
13:32937541 BRCA2 T>TC	13	32937541	32937545	T	TC	BRCA2	c.8206dup	NM_000059.4	NP_000050.3:p.(Leu2736ProfsTer28)	NC_000013.10:g.32937545dup	(Likely) pathogenic	2 labs	09b5a45fc4
12:110238507 TRPV4 G>C	12	110238507	110238507	G	C	TRPV4	c.769C>G	NM_021625.5	NP_067638.3:p.(Leu257Val)	NC_000012.11:g.110238507G>C	(Likely) benign	3 labs	09bbaea1e7
11:108119820 ATM T>C	11	108119820	108119820	T	C	ATM	c.1226T>C	NM_000051.4	NP_000042.3:p.(Leu409Pro)	NC_000011.9:g.108119820T>C	VUS	3 labs	09bf7ee5ce
2:179421609 TTN C>T	2	179421609	179421609	C	T	TTN	c.61452G>A	NM_133432.3	NP_597676.3:p.(Glu20484=)	NC_000002.11:g.179421609C>T	(Likely) benign	2 labs	0f188cadce
12:53722128 SP7 G>A	12	53722128	53722128	G	A	SP7	c.1098C>T	NM_001173467.3	NP_001166938.1:p.(Ser366=)	NC_000012.11:g.53722128G>A	(Likely) benign	2 labs	09bfdb6b18
10:43609948 RET T>C	10	43609948	43609948	T	C	RET	c.1900T>C	NM_020975.4	NP_066124.1:p.(Cys634Arg)	NC_000010.10:g.43609948T>C	(Likely) pathogenic	2 labs	0f1c043cd4
9:103055314 INVS C>T	9	103055314	103055314	C	T	INVS	c.2775C>T	NM_014425.5	NP_055240.2:p.(Arg925=)	NC_000009.11:g.103055314C>T	(Likely) benign	2 labs	0f1ea71600
17:78073562 CCDC40 A>G	17	78073562	78073562	A	G	CCDC40	c.3417A>G	NM_017950.4	NP_060420.2:p.(Pro1139=)	NC_000017.10:g.78073562A>G	(Likely) benign	2 labs	09c397945e
2:179408689 TTN A>G	2	179408689	179408689	A	G	TTN	c.96182T>C	NM_001267550.2	NP_001254479.2:p.(Ile32061Thr)	NC_000002.11:g.179408689A>G	VUS	4 labs	09c914897f
2:60679805 BCL11A G>GA	2	60679805	60679808	G	GA	BCL11A	c.2231-5dup	NM_018014.4	NP_060484.2:p.?	NC_000002.11:g.60679808dup	(Likely) benign	2 labs	09cd7d01c7
4:100521805 MTTP A>C	4	100521805	100521805	A	C	MTTP	c.1151A>C	NM_000253.4	NP_000244.2:p.(Asp384Ala)	NC_000004.11:g.100521805A>C	(Likely) benign	2 labs	09cde21b3d
2:179702420 CCDC141 G>A	2	179702420	179702420	G	A	CCDC141	c.3526C>T	NM_173648.4	NP_775919.3:p.(Arg1176Ter)	NC_000002.11:g.179702420G>A	VUS	2 labs	09d08f2b0e
5:90012312 ADGRV1 C>T	5	90012312	90012312	C	T	ADGRV1	c.9213C>T	NM_032119.4	NP_115495.3:p.(Asp3071=)	NC_000005.9:g.90012312C>T	(Likely) benign	4 labs	09d74204f8
2:227872995 COL4A4 T>C	2	227872995	227872995	T	C	COL4A4	c.4548A>G	NM_000092.5	NP_000083.3:p.(Val1516=)	NC_000002.11:g.227872995T>C	(Likely) benign	2 labs	09d7845a9f
13:32918864 BRCA2 C>G	13	32918864	32918864	C	G	BRCA2	c.6937+74C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918864C>G	(Likely) benign	2 labs	0f2be5383c
1:45295330 PTCH2 G>A	1	45295330	45295330	G	A	PTCH2	c.1039C>T	NM_003738.5	NP_003729.3:p.(Gln347Ter)	NC_000001.10:g.45295330G>A	VUS	2 labs	09d8eb7dff
17:41219633 BRCA1 A>G	17	41219633	41219633	A	G	BRCA1	c.5066T>C	NM_007294.4	NP_009225.1:p.(Met1689Thr)	NC_000017.10:g.41219633A>G	VUS	2 labs	09db340dfd
11:108225473 ATM G>A	11	108225473	108225473	G	A	ATM	c.8787-65G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225473G>A	(Likely) benign	2 labs	9e82bcec14
13:32936710 BRCA2 G>A	13	32936710	32936710	G	A	BRCA2	c.7856G>A	NM_000059.4	NP_000050.3:p.(Trp2619Ter)	NC_000013.10:g.32936710G>A	(Likely) pathogenic	2 labs	09eac9205d
2:179399239 TTN C>T	2	179399239	179399239	C	T	TTN	c.102103G>A	NM_001267550.2	NP_001254479.2:p.(Asp34035Asn)	NC_000002.11:g.179399239C>T	(Likely) benign	4 labs	09ef0791ff
5:40955561 C7 G>C	5	40955561	40955561	G	C	C7	c.1166G>C	NM_000587.4	NP_000578.2:p.(Ser389Thr)	NC_000005.9:g.40955561G>C	(Likely) benign	2 labs	09f0313d1e
8:17920741 ASAH1 T>C	8	17920741	17920741	T	C	ASAH1	c.458-2A>G	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17920741T>C	(Likely) pathogenic	2 labs	9efe61f7f5
2:48032087 MSH6 C>A	2	48032087	48032087	C	A	MSH6	c.3477C>A	NM_000179.3	NP_000170.1:p.(Tyr1159Ter)	NC_000002.11:g.48032087C>A	(Likely) pathogenic	2 labs	9f368e2134
22:26243620 MYO18B G>C	22	26243620	26243620	G	C	MYO18B	c.3775+1G>C	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26243620G>C	(Likely) pathogenic	2 labs	0ec0581d44
10:43600559 RET T>C	10	43600559	43600559	T	C	RET	c.785T>C	NM_020975.4	NP_066124.1:p.(Val262Ala)	NC_000010.10:g.43600559T>C	(Likely) benign	2 labs	0f4145e033
16:3297166 MEFV G>C	16	3297166	3297166	G	C	MEFV	c.1437C>G	NM_000243.2	NP_000234.1:p.(Phe479Leu)	NC_000016.9:g.3297166G>C	(Likely) pathogenic	4 labs	0a00738e96
3:52486123 TNNC1 G>A	3	52486123	52486123	G	A	TNNC1	c.201C>T	NM_003280.3	NP_003271.1:p.(Asp67=)	NC_000003.11:g.52486123G>A	(Likely) benign	3 labs	0a04bd4ba3
14:24567800 NRL C>T	14	24567800	24567800	C	T	NRL	c.-27-15716G>A	NM_001354768.3	NP_001341697.1:p.?	NC_000014.8:g.24567800C>T	VUS	2 labs	0ed2e4d9e9
1:3329020 PRDM16 C>T	1	3329020	3329020	C	T	PRDM16	c.2259C>T	NM_022114.4	NP_071397.3:p.(Ala753=)	NC_000001.10:g.3329020C>T	(Likely) benign	5 labs	0a1889f929
22:29099492 CHEK2 C>A	22	29099492	29099492	C	A	CHEK2	c.908+1G>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29099492C>A	(Likely) pathogenic	2 labs	0a1a835c18
6:119149172 MCM9 G>T	6	119149172	119149172	G	T	MCM9	c.1650C>A	NM_001378357.1	NP_001365286.1:p.(Tyr550Ter)	NC_000006.11:g.119149172G>T	(Likely) pathogenic	2 labs	a03e97d0cf
17:42340073 SLC4A1 C>A	17	42340073	42340073	C	A	SLC4A1	c.37G>T	NM_000342.4	NP_000333.1:p.(Glu13Ter)	NC_000017.10:g.42340073C>A	(Likely) pathogenic	2 labs	0f55e11eed
3:9979713 CRELD1 C>G	3	9979713	9979713	C	G	CRELD1	c.383C>G	NM_015513.6	NP_056328.3:p.(Pro128Arg)	NC_000003.11:g.9979713C>G	(Likely) benign	3 labs	1f405fe3f8
19:11213463 LDLR G>C	19	11213463	11213463	G	C	LDLR	c.313+1G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213463G>C	(Likely) pathogenic	2 labs	0a1d45b1cd
8:68115482 ARFGEF1 T>C	8	68115482	68115482	T	C	ARFGEF1	c.4964A>G	NM_006421.5	NP_006412.2:p.(Asp1655Gly)	NC_000008.10:g.68115482T>C	(Likely) benign	2 labs	0a1f554747
9:21974860 CDKN2A C>A	9	21974860	21974860	C	A	CDKN2A	c.-34G>T	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21974860C>A	(Likely) pathogenic	2 labs	a0b88ae429
16:2154623 PKD1 T>C	16	2154623	2154623	T	C	PKD1	c.8037A>G	NM_001009944.2	NP_001009944.2:p.(Val2679=)	NC_000016.9:g.2154623T>C	(Likely) benign	2 labs	1f42ac3223
1:94517254 ABCA4 C>G	1	94517254	94517254	C	G	ABCA4	c.2588G>C	NM_000350.3	NP_000341.2:p.(Gly863Ala)	NC_000001.10:g.94517254C>G	(Likely) pathogenic	5 labs	0a3733b13f
2:179422457 TTN G>T	2	179422457	179422457	G	T	TTN	c.87624C>A	NM_001267550.2	NP_001254479.2:p.(Tyr29208Ter)	NC_000002.11:g.179422457G>T	(Likely) pathogenic	2 labs	a1271a30ad
3:48508516 TREX1 T>C	3	48508516	48508516	T	C	TREX1	c.462T>C	NM_033629.6	NP_338599.1:p.(Asp154=)	NC_000003.11:g.48508516T>C	(Likely) benign	3 labs	0a3dd9405a
1:160104945 ATP1A2 G>T	1	160104945	160104945	G	T	ATP1A2	c.1975G>T	NM_000702.4	NP_000693.1:p.(Ala659Ser)	NC_000001.10:g.160104945G>T	VUS	2 labs	0a3e28fc69
10:90985002 LIPA C>T	10	90985002	90985002	C	T	LIPA	c.539-17G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90985002C>T	(Likely) benign	2 labs	0f806d20ca
3:129305473 PLXND1 G>C	3	129305473	129305473	G	C	PLXND1	c.1578C>G	NM_015103.3	NP_055918.3:p.(Asp526Glu)	NC_000003.11:g.129305473G>C	VUS	2 labs	0a5172a3d8
20:62126415 EEF1A2 C>T	20	62126415	62126415	C	T	EEF1A2	c.364G>A	NM_001958.5	NP_001949.1:p.(Glu122Lys)	NC_000020.10:g.62126415C>T	(Likely) pathogenic	2 labs	0a558fa8c1
11:17426099 ABCC8 C>T	11	17426099	17426099	C	T	ABCC8	c.3517G>A	NM_000352.6	NP_000343.2:p.(Val1173Met)	NC_000011.9:g.17426099C>T	VUS	2 labs	0a5aaedc39
2:179431870 TTN C>T	2	179431870	179431870	C	T	TTN	c.78989G>A	NM_001267550.2	NP_001254479.2:p.(Ser26330Asn)	NC_000002.11:g.179431870C>T	VUS	2 labs	0a63e82ea8
17:41246019 BRCA1 G>C	17	41246019	41246019	G	C	BRCA1	c.1529C>G	NM_007294.4	NP_009225.1:p.(Ser510Ter)	NC_000017.10:g.41246019G>C	(Likely) pathogenic	5 labs	0a68a4b3dc
22:29083867 CHEK2 G>A	22	29083867	29083867	G	A	CHEK2	c.*18C>T	NM_001005735.2	NP_001005735.1:p.?	NC_000022.10:g.29083867G>A	(Likely) benign	3 labs	0a72b649fe
9:127255448 NR5A1 G>A	9	127255448	127255448	G	A	NR5A1	c.871-20C>T	NM_004959.5	NP_004950.2:p.?	NC_000009.11:g.127255448G>A	(Likely) benign	3 labs	0a77caa493
11:66282080 BBS1 C>A	11	66282080	66282080	C	A	BBS1	c.363C>A	NM_024649.5	NP_078925.3:p.(Tyr121Ter)	NC_000011.9:g.66282080C>A	(Likely) pathogenic	3 labs	0f8fde14ad
11:68080214 LRP5 CGCTGCTGCT>C	11	68080214	68080242	CGCTGCTGCT	C	LRP5	c.52_60del	NM_002335.4	NP_002326.2:p.(Leu18_Leu20del)	NC_000011.9:g.68080234_68080242del	(Likely) benign	2 labs	0f923a5b9b
3:108147680 MYH15 G>A	3	108147680	108147680	G	A	MYH15	c.3421C>T	NM_014981.2	NP_055796.1:p.(Arg1141Ter)	NC_000003.11:g.108147680G>A	(Likely) benign	2 labs	0a8387dae0
9:135203417 SETX T>C	9	135203417	135203417	T	C	SETX	c.3568A>G	NM_015046.7	NP_055861.3:p.(Lys1190Glu)	NC_000009.11:g.135203417T>C	(Likely) benign	4 labs	0a88ac4e25
3:48508252 TREX1 G>A	3	48508252	48508252	G	A	TREX1	c.198G>A	NM_033629.6	NP_338599.1:p.(Lys66=)	NC_000003.11:g.48508252G>A	(Likely) benign	3 labs	0a8aafabb2
17:78078709 GAA T>C	17	78078709	78078709	T	C	GAA	c.324T>C	NM_000152.5	NP_000143.2:p.(Cys108=)	NC_000017.10:g.78078709T>C	(Likely) benign	3 labs	0a8dad2560
8:72127604 EYA1 A>G	8	72127604	72127604	A	G	EYA1	c.1597+18T>C	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72127604A>G	(Likely) benign	2 labs	0f999c87a7
2:48032763 MSH6 G>A	2	48032763	48032763	G	A	MSH6	c.3563G>A	NM_000179.2	NP_000170.1:p.(Ser1188Asn)	NC_000002.11:g.48032763G>A	(Likely) pathogenic	2 labs	a316550440
8:100493820 VPS13B C>T	8	100493820	100493820	C	T	VPS13B	c.3667-7C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100493820C>T	(Likely) benign	4 labs	0a9253cc18
2:215645464 BARD1 C>G	2	215645464	215645464	C	G	BARD1				NC_000002.11:g.215645464C>G	(Likely) benign	2 labs	a37469471e
17:17129618 FLCN C>A	17	17129618	17129618	C	A	FLCN	c.268G>T	NM_144997.7	NP_659434.2:p.(Ala90Ser)	NC_000017.10:g.17129618C>A	(Likely) benign	2 labs	a38fa2c5eb
X:32717239 DMD T>C	X	32717239	32717239	T	C	DMD	c.821A>G	NM_004006.3	NP_003997.2:p.(Tyr274Cys)	NC_000023.10:g.32717239T>C	(Likely) benign	2 labs	0aa053bd5b
1:78407911 NEXN C>G	1	78407911	78407911	C	G	NEXN	c.1659+18C>G	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78407911C>G	(Likely) benign	5 labs	0aa2650aa0
2:179576880 TTN C>T	2	179576880	179576880	C	T	TTN	c.27677G>A	NM_001267550.2	NP_001254479.2:p.(Cys9226Tyr)	NC_000002.11:g.179576880C>T	VUS	2 labs	0aac37d33d
7:117250622 CFTR C>T	7	117250622	117250622	C	T	CFTR	c.3038C>T	NM_000492.4	NP_000483.3:p.(Pro1013Leu)	NC_000007.13:g.117250622C>T	VUS	2 labs	0ab562860b
10:61956386 ANK3 GA>G	10	61956386	61956398	GA	G	ANK3	c.1690-4del	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956398del	(Likely) benign	3 labs	0ab750e171
6:44269193 AARS2 C>T	6	44269193	44269193	C	T	AARS2	c.2607G>A	NM_020745.4	NP_065796.2:p.(Lys869=)	NC_000006.11:g.44269193C>T	(Likely) benign	2 labs	0ab808d792
18:29078276 DSG2 G>A	18	29078276	29078276	G	A	DSG2	c.45+17G>A	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29078276G>A	(Likely) benign	2 labs	0fc67b1153
18:52901778 TCF4 C>T	18	52901778	52901778	C	T	TCF4	c.1486+1G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52901778C>T	(Likely) pathogenic	2 labs	0abbec12b5
14:105167769 INF2 T>A	14	105167769	105167769	T	A	INF2	c.67T>A	NM_022489.4	NP_071934.3:p.(Ser23Thr)	NC_000014.8:g.105167769T>A	(Likely) benign	2 labs	0fd90b7b21
1:3103044 PRDM16 C>T	1	3103044	3103044	C	T	PRDM16	c.387+6C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3103044C>T	(Likely) benign	2 labs	a58b0201d7
13:32911463 BRCA2 A>G	13	32911463	32911463	A	G	BRCA2	c.2971A>G	NM_000059.4	NP_000050.3:p.(Asn991Asp)	NC_000013.10:g.32911463A>G	(Likely) benign	6 labs	0aeba5b58d
10:26355992 MYO3A A>G	10	26355992	26355992	A	G	MYO3A	c.1042A>G	NM_017433.5	NP_059129.3:p.(Ile348Val)	NC_000010.10:g.26355992A>G	(Likely) benign	2 labs	0aef9aa1d5
5:39331859 C9 A>G	5	39331859	39331859	A	G	C9	c.534T>C	NM_001737.5	NP_001728.1:p.(Asn178=)	NC_000005.9:g.39331859A>G	(Likely) benign	2 labs	a600257b02
18:77474488 CTDP1 T>C	18	77474488	77474488	T	C	CTDP1	c.1031-3T>C	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77474488T>C	(Likely) benign	3 labs	0af352b2b1
19:55663261 TNNI3 G>A	19	55663261	55663261	G	A	TNNI3	c.574C>T	NM_000363.5	NP_000354.4:p.(Arg192Cys)	NC_000019.9:g.55663261G>A	(Likely) pathogenic	2 labs	0af62a7a37
2:166852557 SCN1A G>T	2	166852557	166852557	G	T	SCN1A	c.4547C>A	NM_001165963.3	NP_001159435.1:p.(Ser1516Ter)	NC_000002.11:g.166852557G>T	(Likely) pathogenic	2 labs	100fbd8644
14:23891521 MYH7 A>G	14	23891521	23891521	A	G	MYH7	c.3113T>C	NM_000257.4	NP_000248.2:p.(Leu1038Pro)	NC_000014.8:g.23891521A>G	(Likely) pathogenic	2 labs	0af80b6e21
5:14374354 TRIO G>A	5	14374354	14374354	G	A	TRIO	c.3233G>A	NM_007118.4	NP_009049.2:p.(Arg1078Gln)	NC_000005.9:g.14374354G>A	VUS	2 labs	a68b32a298
15:73615170 HCN4 C>T	15	73615170	73615170	C	T	HCN4	c.3264G>A	NM_005477.3	NP_005468.1:p.(Ala1088=)	NC_000015.9:g.73615170C>T	(Likely) benign	2 labs	a698d0ebde
19:11224210 LDLR G>A	19	11224210	11224210	G	A	LDLR	c.1359-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224210G>A	(Likely) pathogenic	2 labs	0afcbc3613
11:108129657 ATM A>G	11	108129657	108129657	A	G	ATM	c.2377-56A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129657A>G	(Likely) benign	3 labs	1f4442e83d
10:88476115 LDB3 G>A	10	88476115	88476115	G	A	LDB3	c.1278G>A	NM_001171610.2	NP_001165081.1:p.(Gly426=)	NC_000010.10:g.88476115G>A	(Likely) benign	3 labs	0b0bf3cdff
12:112926909 PTPN11 A>G	12	112926909	112926909	A	G	PTPN11	c.1529A>G	NM_002834.3	NP_002825.3:p.(Gln510Arg)	NC_000012.11:g.112926909A>G	(Likely) pathogenic	3 labs	1030c8a56a
18:29178610 TTR C>T	18	29178610	29178610	C	T	TTR	c.416C>T	NM_000371.4	NP_000362.1:p.(Thr139Met)	NC_000018.9:g.29178610C>T	(Likely) benign	6 labs	0b1c3a502d
10:112745535 SHOC2 G>A	10	112745535	112745535	G	A	SHOC2	c.841+12G>A	NM_001324337.2	NP_001311266.1:p.?	NC_000010.10:g.112745535G>A	(Likely) benign	2 labs	a7bc3f0c42
3:38620831 SCN5A G>A	3	38620831	38620831	G	A	SCN5A	c.3384C>T	NM_001099404.2	NP_001092874.1:p.(Cys1128=)	NC_000003.11:g.38620831G>A	(Likely) benign	4 labs	0b2256a498
14:23891500 MYH7 C>T	14	23891500	23891500	C	T	MYH7	c.3134G>A	NM_000257.4	NP_000248.2:p.(Arg1045His)	NC_000014.8:g.23891500C>T	VUS	2 labs	0b266a8fe0
1:103444679 COL11A1 T>G	1	103444679	103444679	T	G	COL11A1	c.2647-19A>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103444679T>G	(Likely) benign	2 labs	0b2e9fb0b2
2:179490019 TTN G>A	2	179490019	179490019	G	A	TTN	c.44529C>T	NM_001267550.2	NP_001254479.2:p.(His14843=)	NC_000002.11:g.179490019G>A	(Likely) benign	3 labs	0b367edee0
1:237058828 MTR C>T	1	237058828	237058828	C	T	MTR	c.3576C>T	NM_000254.3	NP_000245.2:p.(Leu1192=)	NC_000001.10:g.237058828C>T	(Likely) benign	2 labs	0b38ee5a79
2:169869774 ABCB11 C>T	2	169869774	169869774	C	T	ABCB11	c.389+8G>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169869774C>T	(Likely) benign	2 labs	104df0ba4d
3:48612852 COL7A1 C>T	3	48612852	48612852	C	T	COL7A1	c.6100G>A	NM_000094.4	NP_000085.1:p.(Gly2034Arg)	NC_000003.11:g.48612852C>T	(Likely) pathogenic	2 labs	0b3d747049
1:196973872 CFHR5 G>A	1	196973872	196973872	G	A	CFHR5	c.1412G>A	NM_030787.4	NP_110414.1:p.(Gly471Glu)	NC_000001.10:g.196973872G>A	(Likely) benign	3 labs	0b3f6fd12a
8:1857649 ARHGEF10 T>G	8	1857649	1857649	T	G	ARHGEF10	c.2143+13T>G	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1857649T>G	(Likely) benign	2 labs	0b3f9d0db9
3:100438892 TFG G>T	3	100438892	100438892	G	T	TFG	c.258G>T	NM_001195479.2	NP_001182408.1:p.(Leu86=)	NC_000003.11:g.100438892G>T	(Likely) benign	2 labs	1054a9085d
2:44071743 ABCG8 A>G	2	44071743	44071743	A	G	ABCG8	c.161A>G	NM_022437.3	NP_071882.1:p.(Tyr54Cys)	NC_000002.11:g.44071743A>G	(Likely) benign	3 labs	0b4aef9789
15:89866691 POLG C>G	15	89866691	89866691	C	G	POLG	c.2209G>C	NM_002693.2	NP_002684.1:p.(Gly737Arg)	NC_000015.9:g.89866691C>G	(Likely) pathogenic	2 labs	0b4f0fa9d4
10:92678740 ANKRD1 AATAAATAAATATATATATATATAT>A	10	92678740	92678767	AATAAATAAATATATATATATATAT	A	ANKRD1	c.346-35_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678767del	(Likely) benign	3 labs	0b4f92f8c1
17:7579642 TP53 C>T	17	7579642	7579642	C	T	TP53	c.97-52G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579642C>T	(Likely) benign	2 labs	a90e4acb35
2:179666983 TTN G>T	2	179666983	179666983	G	T	TTN	c.177C>A	NM_001267550.2	NP_001254479.2:p.(Ser59Arg)	NC_000002.11:g.179666983G>T	VUS	5 labs	0b50fe450d
19:39075667 RYR1 G>A	19	39075667	39075667	G	A	RYR1	c.14731G>A	NM_000540.2	NP_000531.2:p.(Glu4911Lys)	NC_000019.9:g.39075667G>A	(Likely) pathogenic	2 labs	1064fb6bdb
14:23882043 MYH7 C>T	14	23882043	23882043	C	T	MYH7	c.*20G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23882043C>T	(Likely) benign	4 labs	0b5f5ac379
17:10314233 MYH8 A>C	17	10314233	10314233	A	C	MYH8	c.1448T>G	NM_002472.3	NP_002463.2:p.(Phe483Cys)	NC_000017.10:g.10314233A>C	VUS	2 labs	0b63b1a28f
16:88870967 CDT1 T>C	16	88870967	88870967	T	C	CDT1	c.243T>C	NM_030928.4	NP_112190.2:p.(Ser81=)	NC_000016.9:g.88870967T>C	(Likely) benign	2 labs	a9cd45973e
11:108117787 ATM C>T	11	108117787	108117787	C	T	ATM	c.998C>T	NM_001351834.2	NP_001338763.1:p.(Ser333Phe)	NC_000011.9:g.108117787C>T	(Likely) benign	7 labs	0b724d3c26
14:105177427 INF2 C>T	14	105177427	105177427	C	T	INF2	c.2322C>T	NM_022489.4	NP_071934.3:p.(Thr774=)	NC_000014.8:g.105177427C>T	(Likely) benign	2 labs	aa0d498e8e
10:121432087 BAG3 G>A	10	121432087	121432087	G	A	BAG3	c.828G>A	NM_004281.4	NP_004272.2:p.(Arg276=)	NC_000010.10:g.121432087G>A	(Likely) benign	2 labs	0b72c1316c
1:74957771 TNNI3K C>T	1	74957771	74957771	C	T	TNNI3K	c.2182-10C>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74957771C>T	(Likely) benign	2 labs	aa3290ed7f
4:2831383 SH3BP2 T>G	4	2831383	2831383	T	G	SH3BP2	c.834T>G	NM_001145855.2	NP_001139327.1:p.(Ala278=)	NC_000004.11:g.2831383T>G	(Likely) benign	2 labs	0b731b9927
3:37050292 MLH1 A>G	3	37050292	37050292	A	G	MLH1	c.454-13A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37050292A>G	(Likely) pathogenic	2 labs	0b7d450c21
20:45354041 SLC2A10 C>T	20	45354041	45354041	C	T	SLC2A10	c.366C>T	NM_030777.4	NP_110404.1:p.(Tyr122=)	NC_000020.10:g.45354041C>T	(Likely) benign	2 labs	108e4b7cb6
10:121411171 BAG3 G>A	10	121411171	121411171	G	A	BAG3	c.-17G>A	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121411171G>A	(Likely) benign	4 labs	0b7e66c899
4:1808320 FGFR3 C>T	4	1808320	1808320	C	T	FGFR3	c.2078C>T	NM_000142.5	NP_000133.1:p.(Ser693Phe)	NC_000004.11:g.1808320C>T	VUS	2 labs	0b873a5717
15:48829972 FBN1 C>A	15	48829972	48829972	C	A	FBN1	c.572G>T	NM_000138.5	NP_000129.3:p.(Ser191Ile)	NC_000015.9:g.48829972C>A	VUS	2 labs	104f45fb4e
18:34298045 FHOD3 C>T	18	34298045	34298045	C	T	FHOD3	c.2784C>T	NM_001281740.3	NP_001268669.1:p.(Val928=)	NC_000018.9:g.34298045C>T	(Likely) benign	2 labs	aabbff6958
2:47639700 MSH2 G>T	2	47639700	47639700	G	T	MSH2	c.792+1G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47639700G>T	(Likely) pathogenic	2 labs	ab1de1598f
1:216246438 USH2A C>T	1	216246438	216246438	C	T	USH2A	c.5776+1G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216246438C>T	(Likely) pathogenic	2 labs	ab32a20a05
12:22005175 ABCC9 C>T	12	22005175	22005175	C	T	ABCC9	c.2644-19G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22005175C>T	(Likely) benign	3 labs	0bb6f23049
3:4403817 SUMF1 T>A	3	4403817	4403817	T	A	SUMF1	c.*11A>T	NM_182760.4	NP_877437.2:p.?	NC_000003.11:g.4403817T>A	(Likely) benign	2 labs	0bc10c0561
11:22296135 ANO5 G>A	11	22296135	22296135	G	A	ANO5	c.2256G>A	NM_213599.3	NP_998764.1:p.(Thr752=)	NC_000011.9:g.22296135G>A	(Likely) benign	3 labs	0bc292fbd0
2:71780215 DYSF T>C	2	71780215	71780215	T	C	DYSF	c.1878T>C	NM_001130981.2	NP_001124453.1:p.(Asp626=)	NC_000002.11:g.71780215T>C	(Likely) benign	3 labs	0bced83991
6:7574448 DSP G>A	6	7574448	7574448	G	A	DSP	c.2260G>A	NM_004415.4	NP_004406.2:p.(Glu754Lys)	NC_000006.11:g.7574448G>A	VUS	3 labs	0bd21a49c4
2:179457506 TTN C>A	2	179457506	179457506	C	A	TTN	c.59340G>T	NM_001267550.2	NP_001254479.2:p.(Arg19780Ser)	NC_000002.11:g.179457506C>A	VUS	2 labs	0bd9b2b109
5:133945362 SAR1B G>C	5	133945362	133945362	G	C	SAR1B	c.247C>G	NM_001033503.3	NP_001028675.1:p.(Arg83Gly)	NC_000005.9:g.133945362G>C	VUS	2 labs	0bdfa33b6a
12:21919470 KCNJ8 C>A	12	21919470	21919470	C	A	KCNJ8	c.462G>T	NM_004982.4	NP_004973.1:p.(Leu154Phe)	NC_000012.11:g.21919470C>A	VUS	2 labs	ac4463d02e
1:216496835 USH2A C>T	1	216496835	216496835	C	T	USH2A	c.1531G>A	NM_206933.4	NP_996816.3:p.(Glu511Lys)	NC_000001.10:g.216496835C>T	(Likely) pathogenic	2 labs	ac4a5b025e
7:151254337 PRKAG2 T>C	7	151254337	151254337	T	C	PRKAG2	c.1679-19A>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151254337T>C	(Likely) benign	2 labs	ac52931e17
1:94528143 ABCA4 C>T	1	94528143	94528143	C	T	ABCA4	c.1927G>A	NM_000350.3	NP_000341.2:p.(Val643Met)	NC_000001.10:g.94528143C>T	(Likely) benign	2 labs	aca55a445f
17:41258545 BRCA1 C>T	17	41258545	41258545	C	T	BRCA1	c.140G>A	NM_007294.4	NP_009225.1:p.(Cys47Tyr)	NC_000017.10:g.41258545C>T	(Likely) pathogenic	2 labs	acb5d399d4
17:42990750 GFAP C>G	17	42990750	42990750	C	G	GFAP	c.667G>C	NM_002055.5	NP_002046.1:p.(Glu223Gln)	NC_000017.10:g.42990750C>G	(Likely) benign	2 labs	0c17597a07
11:108155248 ATM A>G	11	108155248	108155248	A	G	ATM	c.3993+48A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155248A>G	(Likely) benign	2 labs	ad122bc9f2
7:94058667 COL1A2 G>T	7	94058667	94058667	G	T	COL1A2	c.3879G>T	NM_000089.4	NP_000080.2:p.(Gln1293His)	NC_000007.13:g.94058667G>T	VUS	2 labs	0c17f97f24
12:33031450 PKP2 G>A	12	33031450	33031450	G	A	PKP2	c.364C>T	NM_004572.4	NP_004563.2:p.(Arg122Cys)	NC_000012.11:g.33031450G>A	VUS	4 labs	0c1d5717ab
12:48372388 COL2A1 C>T	12	48372388	48372388	C	T	COL2A1	c.2887G>A	NM_001844.5	NP_001835.3:p.(Gly963Ser)	NC_000012.11:g.48372388C>T	(Likely) pathogenic	2 labs	0c20ba6fdb
12:21981921 ABCC9 C>T	12	21981921	21981921	C	T	ABCC9	c.3640G>A	NM_020297.4	NP_064693.2:p.(Ala1214Thr)	NC_000012.11:g.21981921C>T	VUS	4 labs	0c3fd24c6f
11:2188676 TH C>T	11	2188676	2188676	C	T	TH	c.777G>A	NM_199292.3	NP_954986.2:p.(Glu259=)	NC_000011.9:g.2188676C>T	(Likely) benign	3 labs	0c4498db71
22:26270269 MYO18B G>T	22	26270269	26270269	G	T	MYO18B	c.3968G>T	NM_032608.7	NP_115997.5:p.(Gly1323Val)	NC_000022.10:g.26270269G>T	VUS	2 labs	0c4b0aa5b8
16:23635487 PALB2 T>G	16	23635487	23635487	T	G	PALB2	c.2749-72A>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23635487T>G	(Likely) benign	2 labs	ae4372b770
7:6026837 PMS2 G>A	7	6026837	6026837	G	A	PMS2	c.1559C>T	NM_000535.5	NP_000526.1:p.(Ala520Val)	NC_000007.13:g.6026837G>A	(Likely) benign	2 labs	ae7b1d9222
16:3293405 MEFV C>T	16	3293405	3293405	C	T	MEFV	c.2082G>A	NM_000243.2	NP_000234.1:p.(Met694Ile)	NC_000016.9:g.3293405C>T	(Likely) pathogenic	6 labs	0c53295c32
2:241713646 KIF1A A>G	2	241713646	241713646	A	G	KIF1A	c.991T>C	NM_001244008.2	NP_001230937.1:p.(Leu331=)	NC_000002.11:g.241713646A>G	(Likely) benign	2 labs	ae89ea7caf
11:108141957 ATM T>G	11	108141957	108141957	T	G	ATM	c.2922-21T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108141957T>G	(Likely) benign	2 labs	aeb1e58386
15:90195967 KIF7 C>G	15	90195967	90195967	C	G	KIF7	c.195G>C	NM_198525.3	NP_940927.2:p.(Ala65=)	NC_000015.9:g.90195967C>G	(Likely) benign	5 labs	0c564a85ab
7:6042221 PMS2 G>A	7	6042221	6042221	G	A	PMS2	c.400C>T	NM_000535.6	NP_000526.2:p.(Arg134Ter)	NC_000007.13:g.6042221G>A	(Likely) pathogenic	2 labs	aef1173449
13:52513192 ATP7B T>G	13	52513192	52513192	T	G	ATP7B	c.3694A>C	NM_000053.4	NP_000044.2:p.(Thr1232Pro)	NC_000013.10:g.52513192T>G	(Likely) pathogenic	4 labs	0c638211d9
11:108160547 ATM C>G	11	108160547	108160547	C	G	ATM	c.4436+19C>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108160547C>G	(Likely) benign	2 labs	af267d1501
7:94030899 COL1A2 T>C	7	94030899	94030899	T	C	COL1A2	c.246T>C	NM_000089.4	NP_000080.2:p.(Asp82=)	NC_000007.13:g.94030899T>C	(Likely) benign	2 labs	0c6b391cc2
12:103306550 PAH A>G	12	103306550	103306550	A	G	PAH	c.168+19T>C	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103306550A>G	(Likely) benign	3 labs	0c6d2a3992
X:152959380 SLC6A8 G>A	X	152959380	152959380	G	A	SLC6A8	c.1162G>A	NM_005629.4	NP_005620.1:p.(Ala388Thr)	NC_000023.10:g.152959380G>A	(Likely) benign	2 labs	0c7413e3b1
17:39919593 JUP C>T	17	39919593	39919593	C	T	JUP	c.1159-20G>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39919593C>T	(Likely) benign	4 labs	0c760de8b2
3:38647627 SCN5A C>T	3	38647627	38647627	C	T	SCN5A	c.1153G>A	NM_198056.3	NP_932173.1:p.(Ala385Thr)	NC_000003.11:g.38647627C>T	VUS	2 labs	0c7b135a7c
10:90708573 ACTA2 G>A	10	90708573	90708573	G	A	ACTA2	c.115C>T	NM_001141945.2	NP_001135417.1:p.(Arg39Cys)	NC_000010.10:g.90708573G>A	(Likely) pathogenic	2 labs	b02ffe7540
1:237972189 RYR2 A>G	1	237972189	237972189	A	G	RYR2	c.14299-12A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237972189A>G	(Likely) benign	5 labs	0c82e4b356
7:6022628 PMS2 G>C	7	6022628	6022628	G	C	PMS2	c.2007-6C>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022628G>C	(Likely) benign	2 labs	b06d62b855
9:35805911 NPR2 G>A	9	35805911	35805911	G	A	NPR2	c.2132G>A	NM_003995.4	NP_003986.2:p.(Gly711Glu)	NC_000009.11:g.35805911G>A	VUS	2 labs	0c955cf703
16:57996932 CNGB1 G>A	16	57996932	57996932	G	A	CNGB1	c.327C>T	NM_001297.5	NP_001288.3:p.(Gly109=)	NC_000016.9:g.57996932G>A	(Likely) benign	2 labs	0c9ee343b6
3:123038601 ADCY5 C>T	3	123038601	123038601	C	T	ADCY5	c.2176G>A	NM_183357.3	NP_899200.1:p.(Ala726Thr)	NC_000003.11:g.123038601C>T	(Likely) pathogenic	2 labs	0c9f5acf30
18:48591789 SMAD4 A>G	18	48591789	48591789	A	G	SMAD4	c.956-4A>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48591789A>G	(Likely) benign	2 labs	b0bbf7489f
2:179604228 TTN C>A	2	179604228	179604228	C	A	TTN	c.13732G>T	NM_001267550.2	NP_001254479.2:p.(Glu4578Ter)	NC_000002.11:g.179604228C>A	(Likely) pathogenic	5 labs	0ca0f956ac
3:128205860 GATA2 G>C	3	128205860	128205860	G	C	GATA2	c.15C>G	NM_001145661.2	NP_001139133.1:p.(Pro5=)	NC_000003.11:g.128205860G>C	(Likely) benign	4 labs	0caf355127
2:39234309 SOS1 C>T	2	39234309	39234309	C	T	SOS1	c.2536G>A	NM_005633.4	NP_005624.2:p.(Glu846Lys)	NC_000002.11:g.39234309C>T	(Likely) pathogenic	2 labs	0cb020fd00
4:84191031 COQ2 A>G	4	84191031	84191031	A	G	COQ2	c.894T>C	NM_015697.9	NP_056512.5:p.(Asp298=)	NC_000004.11:g.84191031A>G	(Likely) benign	2 labs	0cb4bc5b31
3:38595800 SCN5A C>T	3	38595800	38595800	C	T	SCN5A	c.4783G>A	NM_001099404.2	NP_001092874.1:p.(Asp1595Asn)	NC_000003.11:g.38595800C>T	(Likely) pathogenic	2 labs	1131515e95
12:9013783 A2ML1 C>T	12	9013783	9013783	C	T	A2ML1	c.3392C>T	NM_144670.6	NP_653271.3:p.(Thr1131Met)	NC_000012.11:g.9013783C>T	(Likely) benign	2 labs	b1513d3648
4:65175653 TECRL G>GA	4	65175653	65175662	G	GA	TECRL	c.552-5dup	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65175662dup	(Likely) benign	2 labs	113cce8b6c
6:112496519 LAMA4 G>A	6	112496519	112496519	G	A	LAMA4	c.1353C>T	NM_001105206.3	NP_001098676.2:p.(Tyr451=)	NC_000006.11:g.112496519G>A	(Likely) benign	2 labs	b28a61c4d9
3:33055688 GLB1 T>C	3	33055688	33055688	T	C	GLB1	c.1594A>G	NM_000404.4	NP_000395.3:p.(Ser532Gly)	NC_000003.11:g.33055688T>C	(Likely) benign	5 labs	0cd237ab40
2:96919855 TMEM127 T>C	2	96919855	96919855	T	C	TMEM127	c.410-2A>G	NM_017849.4	NP_060319.1:p.?	NC_000002.11:g.96919855T>C	(Likely) pathogenic	3 labs	0cd81f6077
2:169847368 ABCB11 A>G	2	169847368	169847368	A	G	ABCB11	c.851T>C	NM_003742.4	NP_003733.2:p.(Val284Ala)	NC_000002.11:g.169847368A>G	VUS	4 labs	0cd916ece3
10:102510581 PAX2 C>T	10	102510581	102510581	C	T	PAX2	c.343C>T	NM_003988.5	NP_003979.2:p.(Arg115Ter)	NC_000010.10:g.102510581C>T	(Likely) pathogenic	2 labs	1164276d69
13:32913026 BRCA2 C>T	13	32913026	32913026	C	T	BRCA2	c.4534C>T	NM_000059.3	NP_000050.2:p.(Arg1512Cys)	NC_000013.10:g.32913026C>T	(Likely) benign	2 labs	b30f03efee
4:155487652 FGB T>C	4	155487652	155487652	T	C	FGB	c.318T>C	NM_005141.4	NP_005132.2:p.(Cys106=)	NC_000004.11:g.155487652T>C	(Likely) benign	2 labs	11646987a2
1:237994882 RYR2 A>C	1	237994882	237994882	A	C	RYR2	c.14808+17A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237994882A>C	(Likely) benign	3 labs	0cded2b285
2:179430691 TTN C>T	2	179430691	179430691	C	T	TTN	c.80168G>A	NM_001267550.2	NP_001254479.2:p.(Arg26723His)	NC_000002.11:g.179430691C>T	VUS	4 labs	0ce1e6c64c
10:112572351 RBM20 C>T	10	112572351	112572351	C	T	RBM20	c.2196C>T	NM_001134363.3	NP_001127835.2:p.(Pro732=)	NC_000010.10:g.112572351C>T	(Likely) benign	3 labs	0cf8faae1b
15:48729584 FBN1 T>A	15	48729584	48729584	T	A	FBN1	c.6314A>T	NM_000138.5	NP_000129.3:p.(Glu2105Val)	NC_000015.9:g.48729584T>A	VUS	3 labs	0d03f69241
2:179458391 TTN C>G	2	179458391	179458391	C	G	TTN	c.58636G>C	NM_001267550.2	NP_001254479.2:p.(Glu19546Gln)	NC_000002.11:g.179458391C>G	(Likely) benign	3 labs	0d09b0d364
6:112466086 LAMA4 C>T	6	112466086	112466086	C	T	LAMA4	c.2403G>A	NM_001105206.3	NP_001098676.2:p.(Thr801=)	NC_000006.11:g.112466086C>T	(Likely) benign	2 labs	0d0d3217ff
9:130698043 DPM2 A>G	9	130698043	130698043	A	G	DPM2	c.213T>C	NM_003863.4	NP_003854.1:p.(Tyr71=)	NC_000009.11:g.130698043A>G	(Likely) benign	2 labs	0d1c293d56
10:69933969 MYPN G>A	10	69933969	69933969	G	A	MYPN	c.2120G>A	NM_032578.4	NP_115967.2:p.(Ser707Asn)	NC_000010.10:g.69933969G>A	(Likely) benign	2 labs	0d21a0eb69
2:215674175 BARD1 G>A	2	215674175	215674175	G	A	BARD1	c.119C>T	NM_000465.4	NP_000456.2:p.(Ala40Val)	NC_000002.11:g.215674175G>A	VUS	2 labs	b4371dcfcc
2:179421694 TTN A>G	2	179421694	179421694	A	G	TTN	c.88187T>C	NM_001267550.2	NP_001254479.2:p.(Ile29396Thr)	NC_000002.11:g.179421694A>G	(Likely) benign	2 labs	0d27faac36
2:179407066 TTN G>A	2	179407066	179407066	G	A	TTN	c.97417C>T	NM_001267550.2	NP_001254479.2:p.(Arg32473Cys)	NC_000002.11:g.179407066G>A	VUS	2 labs	0d46462c8b
3:183861243 EIF2B5 A>G	3	183861243	183861243	A	G	EIF2B5	c.1759A>G	NM_003907.3	NP_003898.2:p.(Ile587Val)	NC_000003.11:g.183861243A>G	(Likely) benign	2 labs	0d4948e3a1
11:67258278 AIP C>T	11	67258278	67258278	C	T	AIP	c.799C>T	NM_001302960.2	NP_001289889.1:p.(Gln267Ter)	NC_000011.9:g.67258278C>T	VUS	3 labs	0d53bde796
19:38994910 RYR1 G>A	19	38994910	38994910	G	A	RYR1	c.7977G>A	NM_000540.3	NP_000531.2:p.(Thr2659=)	NC_000019.9:g.38994910G>A	(Likely) benign	2 labs	b5480eb608
4:100485282 MTTP G>A	4	100485282	100485282	G	A	MTTP	c.30G>A	NM_001300785.1	NP_001287714.1:p.(Gly10=)	NC_000004.11:g.100485282G>A	(Likely) benign	3 labs	0d5402a107
13:110857823 COL4A1 C>T	13	110857823	110857823	C	T	COL4A1	c.903+18G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110857823C>T	(Likely) benign	4 labs	0d5ee3084d
4:80905984 ANTXR2 CA>C	4	80905984	80905985	CA	C	ANTXR2	c.1074del	NM_058172.6	NP_477520.2:p.(Ala359HisfsTer50)	NC_000004.11:g.80905985del	(Likely) pathogenic	2 labs	0d5ffb2b25
18:28648171 DSC2 T>C	18	28648171	28648171	T	C	DSC2	c.2516A>G	NM_024422.6	NP_077740.1:p.(Tyr839Cys)	NC_000018.9:g.28648171T>C	VUS	3 labs	0d632616a4
13:32914362 BRCA2 T>C	13	32914362	32914362	T	C	BRCA2	c.5870T>C	NM_000059.4	NP_000050.3:p.(Ile1957Thr)	NC_000013.10:g.32914362T>C	(Likely) benign	3 labs	b5e5190cc8
3:48610625 COL7A1 G>T	3	48610625	48610625	G	T	COL7A1	c.6696C>A	NM_000094.4	NP_000085.1:p.(Pro2232=)	NC_000003.11:g.48610625G>T	(Likely) benign	2 labs	b5e73a4dc9
13:32914478 BRCA2 G>A	13	32914478	32914478	G	A	BRCA2	c.5986G>A	NM_000059.4	NP_000050.3:p.(Ala1996Thr)	NC_000013.10:g.32914478G>A	(Likely) benign	2 labs	0d67297967
12:12278243 LRP6 G>A	12	12278243	12278243	G	A	LRP6	c.4436C>T	NM_002336.3	NP_002327.2:p.(Thr1479Ile)	NC_000012.11:g.12278243G>A	(Likely) benign	2 labs	0d699eeeb8
17:10448769 MYH2 A>T	17	10448769	10448769	A	T	MYH2	c.399T>A	NM_001100112.2	NP_001093582.1:p.(Pro133=)	NC_000017.10:g.10448769A>T	(Likely) benign	3 labs	0d7766a1d0
2:179415873 TTN C>T	2	179415873	179415873	C	T	TTN	c.91385G>A	NM_001267550.2	NP_001254479.2:p.(Arg30462Gln)	NC_000002.11:g.179415873C>T	VUS	2 labs	0d7cf9cfde
16:70303580 AARS1 G>A	16	70303580	70303580	G	A	AARS1	c.903C>T	NM_001605.3	NP_001596.2:p.(His301=)	NC_000016.9:g.70303580G>A	(Likely) benign	2 labs	0d83268f5e
6:110036336 FIG4 T>C	6	110036336	110036336	T	C	FIG4	c.122T>C	NM_014845.6	NP_055660.1:p.(Ile41Thr)	NC_000006.11:g.110036336T>C	(Likely) pathogenic	4 labs	0d8573a94c
17:48151908 ITGA3 T>C	17	48151908	48151908	T	C	ITGA3	c.1469+10T>C	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48151908T>C	(Likely) benign	2 labs	0d8837cd96
4:650084 PDE6B A>G	4	650084	650084	A	G	PDE6B	c.1107+3A>G	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.650084A>G	(Likely) pathogenic	2 labs	b68d68f64c
11:108127145 ATM G>A	11	108127145	108127145	G	A	ATM	c.2250+78G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108127145G>A	(Likely) benign	2 labs	b6b1fe72e3
15:73635882 HCN4 G>A	15	73635882	73635882	G	A	HCN4	c.1053C>T	NM_005477.3	NP_005468.1:p.(Pro351=)	NC_000015.9:g.73635882G>A	(Likely) benign	6 labs	0d917f0931
2:220283556 DES G>A	2	220283556	220283556	G	A	DES	c.372G>A	NM_001927.4	NP_001918.3:p.(Glu124=)	NC_000002.11:g.220283556G>A	(Likely) benign	5 labs	0d9e01f695
2:179421758 TTN G>A	2	179421758	179421758	G	A	TTN	c.88123C>T	NM_001267550.2	NP_001254479.2:p.(Arg29375Cys)	NC_000002.11:g.179421758G>A	VUS	3 labs	0d9e4a3097
17:42992821 GFAP G>A	17	42992821	42992821	G	A	GFAP	c.34C>T	NM_002055.5	NP_002046.1:p.(Arg12Cys)	NC_000017.10:g.42992821G>A	(Likely) benign	2 labs	0da0474ca9
X:119590615 LAMP2 C>T	X	119590615	119590615	C	T	LAMP2	c.74G>A	NM_002294.3	NP_002285.1:p.(Arg25Gln)	NC_000023.10:g.119590615C>T	(Likely) benign	2 labs	0da1ef6c7f
17:18043906 MYO15A C>T	17	18043906	18043906	C	T	MYO15A	c.5287C>T	NM_016239.4	NP_057323.3:p.(Arg1763Trp)	NC_000017.10:g.18043906C>T	VUS	3 labs	0da5d3c1ba
10:75871769 VCL G>A	10	75871769	75871769	G	A	VCL	c.2848G>A	NM_014000.3	NP_054706.1:p.(Glu950Lys)	NC_000010.10:g.75871769G>A	VUS	3 labs	0da5e15521
16:3294284 MEFV T>A	16	3294284	3294284	T	A	MEFV	c.1729A>T	NM_000243.3	NP_000234.1:p.(Thr577Ser)	NC_000016.9:g.3294284T>A	(Likely) pathogenic	2 labs	0daa691d59
18:28669570 DSC2 T>C	18	28669570	28669570	T	C	DSC2	c.475-13A>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28669570T>C	(Likely) benign	2 labs	b75e42b26e
10:72358577 PRF1 G>A	10	72358577	72358577	G	A	PRF1	c.900C>T	NM_001083116.3	NP_001076585.1:p.(His300=)	NC_000010.10:g.72358577G>A	(Likely) benign	3 labs	0dbad2b2b8
2:179391733 TTN G>T	2	179391733	179391733	G	T	TTN	c.*6C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179391733G>T	(Likely) benign	2 labs	0dbaeda08b
7:117188849 CFTR C>A	7	117188849	117188849	C	A	CFTR	c.1364C>A	NM_000492.4	NP_000483.3:p.(Ala455Glu)	NC_000007.13:g.117188849C>A	(Likely) pathogenic	6 labs	0dc5a3e411
13:60590299 DIAPH3 C>T	13	60590299	60590299	C	T	DIAPH3	c.627-20G>A	NM_001042517.2	NP_001035982.1:p.?	NC_000013.10:g.60590299C>T	(Likely) benign	2 labs	0dcdd584bf
22:21072992 PI4KA C>T	22	21072992	21072992	C	T	PI4KA	c.5235G>A	NM_058004.4	NP_477352.3:p.(Ser1745=)	NC_000022.10:g.21072992C>T	(Likely) benign	2 labs	0dd1e50a42
9:135203838 SETX G>A	9	135203838	135203838	G	A	SETX	c.3147C>T	NM_015046.7	NP_055861.3:p.(His1049=)	NC_000009.11:g.135203838G>A	(Likely) benign	4 labs	0dd31e22ef
1:152286126 FLG A>G	1	152286126	152286126	A	G	FLG	c.1236T>C	NM_002016.2	NP_002007.1:p.(Arg412=)	NC_000001.10:g.152286126A>G	(Likely) benign	2 labs	0ddabb227c
15:27128545 GABRA5 G>C	15	27128545	27128545	G	C	GABRA5	c.338G>C	NM_000810.4	NP_000801.1:p.(Gly113Ala)	NC_000015.9:g.27128545G>C	(Likely) benign	2 labs	0decf64660
12:53343257 KRT18 C>G	12	53343257	53343257	C	G	KRT18	c.300C>G	NM_000224.3	NP_000215.1:p.(Ser100Arg)	NC_000012.11:g.53343257C>G	(Likely) benign	2 labs	0df9a247e3
4:169799315 PALLD G>C	4	169799315	169799315	G	C	PALLD	c.273G>C	NM_001166110.2	NP_001159582.1:p.(Pro91=)	NC_000004.11:g.169799315G>C	(Likely) benign	2 labs	0e00b19e6e
11:10022585 SBF2 A>T	11	10022585	10022585	A	T	SBF2	c.753-16T>A	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.10022585A>T	(Likely) benign	2 labs	0e08127cf2
16:2164490 PKD1 A>G	16	2164490	2164490	A	G	PKD1	c.2534T>C	NM_001009944.2	NP_001009944.2:p.(Leu845Ser)	NC_000016.9:g.2164490A>G	(Likely) pathogenic	2 labs	11ff1a6166
18:21115414 NPC1 A>G	18	21115414	21115414	A	G	NPC1	c.3477+19T>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21115414A>G	(Likely) benign	3 labs	0e14015783
16:23641312 PALB2 T>G	16	23641312	23641312	T	G	PALB2	c.2163A>C	NM_024675.4	NP_078951.2:p.(Thr721=)	NC_000016.9:g.23641312T>G	(Likely) benign	2 labs	b9c6a8aee6
4:88986558 PKD2 G>GA	4	88986558	88986566	G	GA	PKD2	c.2159dup	NM_000297.4	NP_000288.1:p.(Asn720LysfsTer5)	NC_000004.11:g.88986566dup	(Likely) pathogenic	2 labs	120a0632cf
11:6644059 DCHS1 C>G	11	6644059	6644059	C	G	DCHS1	c.8848G>C	NM_003737.4	NP_003728.1:p.(Val2950Leu)	NC_000011.9:g.6644059C>G	VUS	2 labs	0e1479d29b
2:220432709 OBSL1 A>T	2	220432709	220432709	A	T	OBSL1	c.1283-18T>A	NM_015311.3	NP_056126.1:p.?	NC_000002.11:g.220432709A>T	(Likely) benign	2 labs	0e183e4d99
5:155771655 SGCD A>G	5	155771655	155771655	A	G	SGCD	c.160A>G	NM_000337.6	NP_000328.2:p.(Ile54Val)	NC_000005.9:g.155771655A>G	VUS	2 labs	128a98cef8
3:38674712 SCN5A T>C	3	38674712	38674712	T	C	SCN5A	c.87A>G	NM_001099404.2	NP_001092874.1:p.(Ala29=)	NC_000003.11:g.38674712T>C	(Likely) benign	5 labs	0e1a5c1207
11:822622 PNPLA2 A>G	11	822622	822622	A	G	PNPLA2	c.696+16A>G	NM_020376.4	NP_065109.1:p.?	NC_000011.9:g.822622A>G	(Likely) benign	2 labs	0e2a47b862
2:162276752 TBR1 C>T	2	162276752	162276752	C	T	TBR1	c.1174C>T	NM_006593.4	NP_006584.1:p.(Arg392Trp)	NC_000002.11:g.162276752C>T	(Likely) pathogenic	2 labs	ba59cae199
2:179605416 TTN C>T	2	179605416	179605416	C	T	TTN	c.12544G>A	NM_001267550.2	NP_001254479.2:p.(Glu4182Lys)	NC_000002.11:g.179605416C>T	VUS	3 labs	0e35447a3d
7:128482433 FLNC G>A	7	128482433	128482433	G	A	FLNC	c.2265+5G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482433G>A	(Likely) pathogenic	3 labs	0e3b739a43
9:107562804 ABCA1 T>C	9	107562804	107562804	T	C	ABCA1	c.4760A>G	NM_005502.4	NP_005493.2:p.(Lys1587Arg)	NC_000009.11:g.107562804T>C	(Likely) benign	3 labs	0e44405d71
2:179447801 TTN A>G	2	179447801	179447801	A	G	TTN	c.65729T>C	NM_001267550.2	NP_001254479.2:p.(Ile21910Thr)	NC_000002.11:g.179447801A>G	(Likely) benign	4 labs	0e4523da6f
16:68857289 CDH1 T>C	16	68857289	68857289	T	C	CDH1	c.1937-13T>C	NM_004360.4	NP_004351.1:p.?	NC_000016.9:g.68857289T>C	(Likely) benign	2 labs	bada85a73b
17:48262977 COL1A1 A>G	17	48262977	48262977	A	G	COL1A1	c.4281T>C	NM_000088.4	NP_000079.2:p.(Ile1427=)	NC_000017.10:g.48262977A>G	(Likely) benign	2 labs	121bae650f
2:179553782 TTN C>T	2	179553782	179553782	C	T	TTN	c.32093G>A	NM_001267550.2	NP_001254479.2:p.(Arg10698Gln)	NC_000002.11:g.179553782C>T	(Likely) benign	2 labs	bb40752b64
6:112513009 LAMA4 T>C	6	112513009	112513009	T	C	LAMA4	c.547A>G	NM_001105206.3	NP_001098676.2:p.(Thr183Ala)	NC_000006.11:g.112513009T>C	VUS	3 labs	0e5ade95c7
1:3301699 PRDM16 C>T	1	3301699	3301699	C	T	PRDM16	c.439-17C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301699C>T	(Likely) benign	2 labs	bb7901e68f
3:37089174 MLH1 G>A	3	37089174	37089174	G	A	MLH1	c.1896G>A	NM_000249.4	NP_000240.1:p.(Glu632=)	NC_000003.11:g.37089174G>A	(Likely) pathogenic	5 labs	0e61161f4e
1:94466417 ABCA4 C>A	1	94466417	94466417	C	A	ABCA4	c.6454G>T	NM_000350.3	NP_000341.2:p.(Gly2152Cys)	NC_000001.10:g.94466417C>A	VUS	2 labs	bbb9fbfd89
2:98340791 ZAP70 C>A	2	98340791	98340791	C	A	ZAP70	c.292C>A	NM_001079.4	NP_001070.2:p.(Leu98Met)	NC_000002.11:g.98340791C>A	VUS	2 labs	0e625ae60e
6:42666020 PRPH2 G>A	6	42666020	42666020	G	A	PRPH2	c.*13C>T	NM_000322.5	NP_000313.2:p.?	NC_000006.11:g.42666020G>A	(Likely) benign	3 labs	0e72e7da29
9:79968362 VPS13A T>C	9	79968362	79968362	T	C	VPS13A	c.7457T>C	NM_033305.3	NP_150648.2:p.(Ile2486Thr)	NC_000009.11:g.79968362T>C	(Likely) benign	2 labs	0e840f989d
6:157099981 ARID1B G>GGGCGGC	6	157099981	157100007	G	GGGCGGC	ARID1B	c.1188_1193dup	NM_001371656.1	NP_001358585.1:p.(Gly401_Gly402dup)	NC_000006.11:g.157100002_157100007dup	(Likely) benign	2 labs	0e8451bc28
19:40901614 PRX A>G	19	40901614	40901614	A	G	PRX	c.2645T>C	NM_181882.3	NP_870998.2:p.(Val882Ala)	NC_000019.9:g.40901614A>G	(Likely) benign	3 labs	0e918c001e
12:52200900 SCN8A A>G	12	52200900	52200900	A	G	SCN8A	c.5630A>G	NM_001330260.2	NP_001317189.1:p.(Asn1877Ser)	NC_000012.11:g.52200900A>G	(Likely) pathogenic	2 labs	bd40ac1ead
2:179477947 TTN A>C	2	179477947	179477947	A	C	TTN	c.49589T>G	NM_001267550.2	NP_001254479.2:p.(Leu16530Arg)	NC_000002.11:g.179477947A>C	VUS	2 labs	bd48ebb4d9
17:10546130 MYH3 T>G	17	10546130	10546130	T	G	MYH3	c.1581+13A>C	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10546130T>G	(Likely) benign	3 labs	0e97275586
16:89620971 SPG7 G>A	16	89620971	89620971	G	A	SPG7	c.2181G>A	NM_003119.4	NP_003110.1:p.(Ala727=)	NC_000016.9:g.89620971G>A	VUS	2 labs	0ea0996be3
15:100821576 ADAMTS17 G>A	15	100821576	100821576	G	A	ADAMTS17	c.647C>T	NM_139057.4	NP_620688.2:p.(Ser216Leu)	NC_000015.9:g.100821576G>A	(Likely) benign	2 labs	12e9b6b3c2
17:74475024 RHBDF2 G>A	17	74475024	74475024	G	A	RHBDF2	c.623C>T	NM_024599.5	NP_078875.4:p.(Pro208Leu)	NC_000017.10:g.74475024G>A	(Likely) benign	2 labs	0ea1e26f2e
10:104264107 SUFU C>T	10	104264107	104264107	C	T	SUFU	c.182+16C>T	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104264107C>T	(Likely) benign	3 labs	0eb0ff3285
X:153363075 MECP2 G>GCCT	X	153363075	153363092	G	GCCT	MECP2	c.-116_-114dup	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153363090_153363092dup	(Likely) benign	3 labs	0eb6ad5748
17:41245932 BRCA1 G>A	17	41245932	41245932	G	A	BRCA1	c.1616C>T	NM_007294.4	NP_009225.1:p.(Thr539Met)	NC_000017.10:g.41245932G>A	(Likely) benign	3 labs	0ebf59bae9
9:138669261 KCNT1 G>A	9	138669261	138669261	G	A	KCNT1	c.2427G>A	NM_020822.3	NP_065873.2:p.(Thr809=)	NC_000009.11:g.138669261G>A	(Likely) benign	3 labs	0ec9f12d0a
18:72998899 TSHZ1 G>A	18	72998899	72998899	G	A	TSHZ1	c.1402G>A	NM_005786.6	NP_005777.3:p.(Ala468Thr)	NC_000018.9:g.72998899G>A	(Likely) benign	2 labs	127740a135
14:68234539 ZFYVE26 T>C	14	68234539	68234539	T	C	ZFYVE26	c.5672A>G	NM_015346.4	NP_056161.2:p.(Asn1891Ser)	NC_000014.8:g.68234539T>C	(Likely) benign	2 labs	0ecfc64a44
15:28443903 HERC2 C>T	15	28443903	28443903	C	T	HERC2	c.7729G>A	NM_004667.6	NP_004658.3:p.(Val2577Ile)	NC_000015.9:g.28443903C>T	VUS	2 labs	0ee63881a1
10:88476358 LDB3 G>A	10	88476358	88476358	G	A	LDB3	c.1521G>A	NM_001171610.2	NP_001165081.1:p.(Pro507=)	NC_000010.10:g.88476358G>A	(Likely) benign	3 labs	0ee75dfbcd
22:17690409 ADA2 G>A	22	17690409	17690409	G	A	ADA2	c.159C>T	NM_001282225.2	NP_001269154.1:p.(Asn53=)	NC_000022.10:g.17690409G>A	(Likely) benign	3 labs	0eed4ca864
2:179631323 TTN C>T	2	179631323	179631323	C	T	TTN	c.9488G>A	NM_001267550.2	NP_001254479.2:p.(Arg3163His)	NC_000002.11:g.179631323C>T	VUS	3 labs	0ef0818312
11:108139198 ATM G>A	11	108139198	108139198	G	A	ATM	c.2700G>A	NM_000051.4	NP_000042.3:p.(Met900Ile)	NC_000011.9:g.108139198G>A	(Likely) benign	2 labs	bf04775d63
3:38627537 SCN5A G>T	3	38627537	38627537	G	T	SCN5A	c.2437-5C>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627537G>T	(Likely) benign	5 labs	0ef360dcdc
11:19213986 CSRP3 A>G	11	19213986	19213986	A	G	CSRP3	c.10T>C	NM_003476.5	NP_003467.1:p.(Trp4Arg)	NC_000011.9:g.19213986A>G	(Likely) benign	4 labs	0ef5b9d1b0
1:237711746 RYR2 T>C	1	237711746	237711746	T	C	RYR2	c.2922T>C	NM_001035.3	NP_001026.2:p.(Ser974=)	NC_000001.10:g.237711746T>C	(Likely) benign	2 labs	bfa19c790e
2:179664441 TTN A>G	2	179664441	179664441	A	G	TTN	c.687T>C	NM_001267550.2	NP_001254479.2:p.(Phe229=)	NC_000002.11:g.179664441A>G	(Likely) benign	5 labs	0f0f5047fc
17:40767021 TUBG1 C>T	17	40767021	40767021	C	T	TUBG1	c.1318C>T	NM_001070.5	NP_001061.2:p.(Arg440Trp)	NC_000017.10:g.40767021C>T	(Likely) benign	2 labs	0f0f93d07c
17:63533768 AXIN2 G>A	17	63533768	63533768	G	A	AXIN2	c.1386C>T	NM_004655.4	NP_004646.3:p.(Pro462=)	NC_000017.10:g.63533768G>A	(Likely) benign	2 labs	0f12dfe562
7:128491603 FLNC T>C	7	128491603	128491603	T	C	FLNC	c.5763T>C	NM_001458.5	NP_001449.3:p.(Thr1921=)	NC_000007.13:g.128491603T>C	(Likely) benign	2 labs	bfe5967a05
X:135290060 FHL1 C>T	X	135290060	135290060	C	T	FHL1	c.441C>T	NM_001159704.1	NP_001153176.1:p.(Asp147=)	NC_000023.10:g.135290060C>T	(Likely) benign	4 labs	0f136f1528
8:133146616 KCNQ3 G>A	8	133146616	133146616	G	A	KCNQ3	c.1720C>T	NM_004519.4	NP_004510.1:p.(Pro574Ser)	NC_000008.10:g.133146616G>A	(Likely) benign	4 labs	0f1701ed9b
11:108224538 ATM T>C	11	108224538	108224538	T	C	ATM	c.8717T>C	NM_000051.4	NP_000042.3:p.(Val2906Ala)	NC_000011.9:g.108224538T>C	VUS	2 labs	0f1a7bd77e
X:70471401 ZMYM3 C>T	X	70471401	70471401	C	T	ZMYM3	c.711+7G>A	NM_201599.3	NP_963893.1:p.?	NC_000023.10:g.70471401C>T	(Likely) benign	2 labs	0f2c1939e1
19:11319491 DOCK6 G>A	19	11319491	11319491	G	A	DOCK6	c.4959C>T	NM_020812.4	NP_065863.2:p.(Asn1653=)	NC_000019.9:g.11319491G>A	(Likely) benign	2 labs	0f35c3f7c8
12:33031159 PKP2 T>C	12	33031159	33031159	T	C	PKP2	c.655A>G	NM_004572.4	NP_004563.2:p.(Arg219Gly)	NC_000012.11:g.33031159T>C	VUS	4 labs	0f3b970285
9:135781029 TSC1 T>C	9	135781029	135781029	T	C	TSC1	c.1936A>G	NM_000368.5	NP_000359.1:p.(Met646Val)	NC_000009.11:g.135781029T>C	(Likely) benign	3 labs	0f3c2fd7a5
2:179574454 TTN T>G	2	179574454	179574454	T	G	TTN	c.28592A>C	NM_001267550.2	NP_001254479.2:p.(Asn9531Thr)	NC_000002.11:g.179574454T>G	VUS	2 labs	0f3d5f2eb4
2:215645545 BARD1 C>G	2	215645545	215645545	C	G	BARD1	c.1053G>C	NM_000465.4	NP_000456.2:p.(Thr351=)	NC_000002.11:g.215645545C>G	(Likely) benign	2 labs	c148c14ca8
1:43408966 SLC2A1 G>A	1	43408966	43408966	G	A	SLC2A1	c.45C>T	NM_006516.4	NP_006507.2:p.(Ala15=)	NC_000001.10:g.43408966G>A	(Likely) benign	5 labs	0f48d70d28
2:47672569 MSH2 G>A	2	47672569	47672569	G	A	MSH2	c.1277-118G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672569G>A	(Likely) benign	2 labs	c1937e3923
11:68174018 LRP5 G>A	11	68174018	68174018	G	A	LRP5	c.1828G>A	NM_002335.4	NP_002326.2:p.(Gly610Arg)	NC_000011.9:g.68174018G>A	(Likely) pathogenic	3 labs	0f4c7bc7f8
19:19455653 MAU2 G>T	19	19455653	19455653	G	T	MAU2	c.1078-5G>T	NM_015329.4	NP_056144.3:p.?	NC_000019.9:g.19455653G>T	(Likely) benign	2 labs	0f676d0dbe
15:72190309 MYO9A A>G	15	72190309	72190309	A	G	MYO9A	c.4535T>C	NM_006901.4	NP_008832.2:p.(Met1512Thr)	NC_000015.9:g.72190309A>G	(Likely) benign	2 labs	12edd7713d
2:179594832 TTN G>A	2	179594832	179594832	G	A	TTN	c.18295C>T	NM_001267550.2	NP_001254479.2:p.(Leu6099Phe)	NC_000002.11:g.179594832G>A	VUS	2 labs	0f7d1d8102
18:29172865 TTR G>A	18	29172865	29172865	G	A	TTR	c.76G>A	NM_000371.4	NP_000362.1:p.(Gly26Ser)	NC_000018.9:g.29172865G>A	(Likely) benign	4 labs	0f836a6b67
2:21225500 APOB A>G	2	21225500	21225500	A	G	APOB	c.12794T>C	NM_000384.3	NP_000375.3:p.(Val4265Ala)	NC_000002.11:g.21225500A>G	(Likely) benign	3 labs	0f841f0963
12:22086822 ABCC9 G>A	12	22086822	22086822	G	A	ABCC9	c.178C>T	NM_001377273.1	NP_001364202.1:p.(His60Tyr)	NC_000012.11:g.22086822G>A	(Likely) pathogenic	2 labs	c35b3e3875
9:136412236 ADAMTSL2 A>T	9	136412236	136412236	A	T	ADAMTSL2	c.840A>T	NM_001145320.2	NP_001138792.1:p.(Ala280=)	NC_000009.11:g.136412236A>T	(Likely) benign	3 labs	0f8b298302
2:179439948 TTN G>T	2	179439948	179439948	G	T	TTN	c.70911C>A	NM_001267550.2	NP_001254479.2:p.(Gly23637=)	NC_000002.11:g.179439948G>T	(Likely) benign	2 labs	0f8b7f0d9a
18:2937867 LPIN2 C>A	18	2937867	2937867	C	A	LPIN2	c.991G>T	NM_014646.2	NP_055461.1:p.(Ala331Ser)	NC_000018.9:g.2937867C>A	(Likely) benign	2 labs	0f9f4f714c
14:58932550 KIAA0586 T>C	14	58932550	58932550	T	C	KIAA0586	c.2219-3T>C	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58932550T>C	(Likely) benign	2 labs	132882fafd
9:14846036 FREM1 C>G	9	14846036	14846036	C	G	FREM1	c.1315G>C	NM_144966.7	NP_659403.4:p.(Val439Leu)	NC_000009.11:g.14846036C>G	(Likely) benign	2 labs	0fb826a2a7
2:179590330 TTN G>A	2	179590330	179590330	G	A	TTN	c.20601C>T	NM_001267550.2	NP_001254479.2:p.(Ala6867=)	NC_000002.11:g.179590330G>A	(Likely) benign	2 labs	c4654e015b
X:154158201 F8 T>G	X	154158201	154158201	T	G	F8	c.3864A>C	NM_000132.4	NP_000123.1:p.(Ser1288=)	NC_000023.10:g.154158201T>G	(Likely) benign	2 labs	0fbac6bd36
2:179397260 TTN T>C	2	179397260	179397260	T	C	TTN	c.104082A>G	NM_001267550.2	NP_001254479.2:p.(Ser34694=)	NC_000002.11:g.179397260T>C	(Likely) benign	5 labs	0fc7db1aae
11:108186956 ATM T>C	11	108186956	108186956	T	C	ATM	c.6198+116T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186956T>C	(Likely) benign	2 labs	c4fba7a90a
X:135288761 FHL1 C>G	X	135288761	135288761	C	G	FHL1	c.156+14C>G	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135288761C>G	(Likely) benign	2 labs	0fd22b4f01
17:41246558 BRCA1 A>G	17	41246558	41246558	A	G	BRCA1	c.990T>C	NM_007294.3	NP_009225.1:p.(Asp330=)	NC_000017.10:g.41246558A>G	(Likely) benign	2 labs	c566d2d028
20:32005515 SNTA1 C>T	20	32005515	32005515	C	T	SNTA1	c.701+10G>A	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32005515C>T	(Likely) benign	2 labs	134b97d407
10:89623901 PTEN G>C	10	89623901	89623901	G	C	PTEN	c.-326G>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623901G>C	(Likely) benign	2 labs	c582d0b2d9
22:41914593 ACO2 C>T	22	41914593	41914593	C	T	ACO2	c.1032+17C>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41914593C>T	(Likely) benign	2 labs	0fe0f118ae
1:152282942 FLG G>A	1	152282942	152282942	G	A	FLG	c.4420C>T	NM_002016.2	NP_002007.1:p.(Arg1474Ter)	NC_000001.10:g.152282942G>A	(Likely) pathogenic	2 labs	0fe6378547
6:7579930 DSP C>T	6	7579930	7579930	C	T	DSP	c.3507C>T	NM_004415.2	NP_004406.2:p.(Tyr1169=)	NC_000006.11:g.7579930C>T	(Likely) benign	2 labs	1360c46051
11:26463582 ANO3 C>T	11	26463582	26463582	C	T	ANO3	c.164C>T	NM_031418.4	NP_113606.2:p.(Ser55Phe)	NC_000011.9:g.26463582C>T	(Likely) benign	2 labs	10064311b2
7:98533274 TRRAP G>A	7	98533274	98533274	G	A	TRRAP	c.4087G>A	NM_003496.4	NP_003487.1:p.(Val1363Ile)	NC_000007.13:g.98533274G>A	VUS	2 labs	1010540063
10:70775959 KIFBP C>T	10	70775959	70775959	C	T	KIFBP	c.1653C>T	NM_015634.4	NP_056449.1:p.(Ala551=)	NC_000010.10:g.70775959C>T	(Likely) benign	2 labs	101c96c370
1:17349219 SDHB G>A	1	17349219	17349219	G	A	SDHB	c.649C>T	NM_003000.3	NP_002991.2:p.(Arg217Cys)	NC_000001.10:g.17349219G>A	(Likely) pathogenic	2 labs	102dd33b63
1:236924333 ACTN2 C>T	1	236924333	236924333	C	T	ACTN2	c.2386C>T	NM_001103.4	NP_001094.1:p.(Arg796Cys)	NC_000001.10:g.236924333C>T	VUS	2 labs	1039e4ec1c
16:15814914 MYH11 G>A	16	15814914	15814914	G	A	MYH11	c.4579-6C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15814914G>A	(Likely) benign	2 labs	1044bd59b9
8:143958427 CYP11B1 C>T	8	143958427	143958427	C	T	CYP11B1	c.595+12G>A	NM_000497.4	NP_000488.3:p.?	NC_000008.10:g.143958427C>T	(Likely) benign	2 labs	10486483b5
16:23614818 PALB2 G>A	16	23614818	23614818	G	A	PALB2	c.3523C>T	NM_024675.4	NP_078951.2:p.(Gln1175Ter)	NC_000016.9:g.23614818G>A	(Likely) pathogenic	3 labs	105b6e1d3c
19:11224265 LDLR A>G	19	11224265	11224265	A	G	LDLR	c.1413A>G	NM_000527.5	NP_000518.1:p.(Arg471=)	NC_000019.9:g.11224265A>G	(Likely) benign	3 labs	105f54a495
18:28671071 DSC2 G>A	18	28671071	28671071	G	A	DSC2	c.394C>T	NM_004949.5	NP_004940.1:p.(Arg132Cys)	NC_000018.9:g.28671071G>A	VUS	2 labs	10640dad1a
16:2160359 PKD1 G>A	16	2160359	2160359	G	A	PKD1	c.4809C>T	NM_001009944.2	NP_001009944.2:p.(Ser1603=)	NC_000016.9:g.2160359G>A	(Likely) benign	2 labs	13b7ecb0c0
2:179612321 TTN T>A	2	179612321	179612321	T	A	TTN	c.14806A>T	NM_133379.5	NP_596870.2:p.(Thr4936Ser)	NC_000002.11:g.179612321T>A	(Likely) benign	5 labs	1076cb2e32
3:37053568 MLH1 A>G	3	37053568	37053568	A	G	MLH1	c.655A>G	NM_000249.4	NP_000240.1:p.(Ile219Val)	NC_000003.11:g.37053568A>G	(Likely) benign	5 labs	1077fff2cc
2:44102491 ABCG8 C>T	2	44102491	44102491	C	T	ABCG8	c.1695C>T	NM_022437.3	NP_071882.1:p.(Ala565=)	NC_000002.11:g.44102491C>T	(Likely) benign	3 labs	107c98089d
16:15811023 MYH11 C>T	16	15811023	15811023	C	T	MYH11	c.5499G>A	NM_001040113.2	NP_001035202.1:p.(Leu1833=)	NC_000016.9:g.15811023C>T	(Likely) benign	4 labs	10807a7b62
7:117227855 CFTR T>G	7	117227855	117227855	T	G	CFTR	c.1647T>G	NM_000492.4	NP_000483.3:p.(Ser549Arg)	NC_000007.13:g.117227855T>G	(Likely) pathogenic	2 labs	10891147ed
19:36223178 KMT2B C>G	19	36223178	36223178	C	G	KMT2B	c.5728C>G	NM_014727.3	NP_055542.1:p.(Pro1910Ala)	NC_000019.9:g.36223178C>G	(Likely) benign	2 labs	108d797150
2:179452671 TTN G>A	2	179452671	179452671	G	A	TTN	c.63463C>T	NM_001267550.2	NP_001254479.2:p.(Arg21155Cys)	NC_000002.11:g.179452671G>A	VUS	2 labs	10900e7906
10:75758001 VCL C>T	10	75758001	75758001	C	T	VCL	c.36C>T	NM_014000.3	NP_054706.1:p.(Ile12=)	NC_000010.10:g.75758001C>T	(Likely) benign	2 labs	1091dfa1ee
12:102043078 MYBPC1 A>G	12	102043078	102043078	A	G	MYBPC1	c.1237A>G	NM_002465.4	NP_002456.2:p.(Arg413Gly)	NC_000012.11:g.102043078A>G	VUS	2 labs	1094a41e26
9:130444788 STXBP1 C>T	9	130444788	130444788	C	T	STXBP1	c.1651C>T	NM_003165.6	NP_003156.1:p.(Arg551Cys)	NC_000009.11:g.130444788C>T	(Likely) pathogenic	2 labs	13e697ff6a
22:51063477 ARSA T>C	22	51063477	51063477	T	C	ARSA	c.*96A>G	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063477T>C	(Likely) benign	6 labs	10989c3fba
8:134270617 NDRG1 G>A	8	134270617	134270617	G	A	NDRG1	c.442C>T	NM_001135242.2	NP_001128714.1:p.(Arg148Ter)	NC_000008.10:g.134270617G>A	(Likely) pathogenic	2 labs	ca656671bc
2:48027403 MSH6 A>G	2	48027403	48027403	A	G	MSH6	c.2281A>G	NM_000179.3	NP_000170.1:p.(Arg761Gly)	NC_000002.11:g.48027403A>G	VUS	3 labs	109d904a08
7:30655542 GARS1 T>C	7	30655542	30655542	T	C	GARS1	c.1062T>C	NM_002047.4	NP_002038.2:p.(Phe354=)	NC_000007.13:g.30655542T>C	(Likely) benign	2 labs	ca7e2b9157
1:237850814 RYR2 C>T	1	237850814	237850814	C	T	RYR2	c.9067+10C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850814C>T	(Likely) benign	2 labs	10a014ce2b
17:33443879 RAD51D G>A	17	33443879	33443879	G	A	RAD51D	c.263+1641C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443879G>A	(Likely) benign	2 labs	cb1620ea3e
15:44864966 SPG11 C>A	15	44864966	44864966	C	A	SPG11	c.6258G>T	NM_025137.4	NP_079413.3:p.(Leu2086=)	NC_000015.9:g.44864966C>A	(Likely) benign	4 labs	10b6bfb9bf
1:200635721 DDX59 C>G	1	200635721	200635721	C	G	DDX59	c.148G>C	NM_001031725.5	NP_001026895.2:p.(Ala50Pro)	NC_000001.10:g.200635721C>G	(Likely) benign	2 labs	13fefc5a33
1:120458924 NOTCH2 G>A	1	120458924	120458924	G	A	NOTCH2	c.6421C>T	NM_024408.4	NP_077719.2:p.(Leu2141=)	NC_000001.10:g.120458924G>A	(Likely) benign	4 labs	10b9a742b8
17:41246664 BRCA1 T>C	17	41246664	41246664	T	C	BRCA1	c.884A>G	NM_007294.3	NP_009225.1:p.(Asp295Gly)	NC_000017.10:g.41246664T>C	(Likely) benign	2 labs	cbdedc1abd
X:123034511 XIAP A>C	X	123034511	123034511	A	C	XIAP	c.1268A>C	NM_001167.4	NP_001158.2:p.(Gln423Pro)	NC_000023.10:g.123034511A>C	(Likely) benign	2 labs	10c27121a0
6:31917291 CFB C>T	6	31917291	31917291	C	T	CFB	c.1365C>T	NM_001710.5	NP_001701.2:p.(Val455=)	NC_000006.11:g.31917291C>T	(Likely) benign	2 labs	14139a4eeb
16:88504850 ZNF469 G>C	16	88504850	88504850	G	C	ZNF469	c.10972G>C	NM_001367624.2	NP_001354553.1:p.(Glu3658Gln)	NC_000016.9:g.88504850G>C	(Likely) benign	2 labs	10c49a493e
3:9985169 CRELD1 G>A	3	9985169	9985169	G	A	CRELD1	c.1018G>A	NM_015513.6	NP_056328.3:p.(Glu340Lys)	NC_000003.11:g.9985169G>A	(Likely) benign	2 labs	10c549f902
1:208383681 PLXNA2 C>T	1	208383681	208383681	C	T	PLXNA2	c.1315G>A	NM_025179.4	NP_079455.3:p.(Val439Ile)	NC_000001.10:g.208383681C>T	VUS	2 labs	10c65a34be
4:996675 IDUA C>A	4	996675	996675	C	A	IDUA	c.1345C>A	NM_000203.5	NP_000194.2:p.(His449Asn)	NC_000004.11:g.996675C>A	VUS	2 labs	10cf4e9b8e
11:108160275 ATM T>C	11	108160275	108160275	T	C	ATM	c.4237-54T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108160275T>C	(Likely) benign	2 labs	cc7d459b62
2:179640364 TTN T>C	2	179640364	179640364	T	C	TTN	c.6227A>G	NM_001267550.2	NP_001254479.2:p.(Glu2076Gly)	NC_000002.11:g.179640364T>C	VUS	2 labs	10da5493cb
8:144998793 PLEC C>T	8	144998793	144998793	C	T	PLEC	c.5715G>A	NM_201380.4	NP_958782.1:p.(Leu1905=)	NC_000008.10:g.144998793C>T	(Likely) benign	2 labs	10f5c8c850
17:41223256 BRCA1 C>G	17	41223256	41223256	C	G	BRCA1	c.4676-1G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41223256C>G	(Likely) pathogenic	2 labs	ccbe6646f7
1:11854476 MTHFR T>G	1	11854476	11854476	T	G	MTHFR	c.1286A>C	NM_005957.5	NP_005948.3:p.(Glu429Ala)	NC_000001.10:g.11854476T>G	(Likely) benign	6 labs	10faedf5d0
20:42789056 JPH2 G>C	20	42789056	42789056	G	C	JPH2	c.380-9C>G	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42789056G>C	(Likely) benign	5 labs	1109ce1b1a
3:38988407 SCN11A C>CA	3	38988407	38988415	C	CA	SCN11A	c.268-10dup	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38988415dup	(Likely) benign	2 labs	cd0331cb8c
8:17796382 PCM1 A>G	8	17796382	17796382	A	G	PCM1	c.476A>G	NM_006197.4	NP_006188.4:p.(Asn159Ser)	NC_000008.10:g.17796382A>G	(Likely) benign	2 labs	1122ba0530
10:126093991 OAT T>C	10	126093991	126093991	T	C	OAT	c.648+14A>G	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126093991T>C	(Likely) benign	2 labs	1123c0bcc9
17:33433487 RAD51D C>T	17	33433487	33433487	C	T	RAD51D	c.494G>A	NM_002878.3	NP_002869.3:p.(Arg165Gln)	NC_000017.10:g.33433487C>T	(Likely) benign	2 labs	cd2e1f5eb6
12:52164465 SCN8A C>T	12	52164465	52164465	C	T	SCN8A	c.3643C>T	NM_014191.4	NP_055006.1:p.(Leu1215=)	NC_000012.11:g.52164465C>T	(Likely) benign	2 labs	112d500ccf
2:21225912 APOB C>T	2	21225912	21225912	C	T	APOB	c.12382G>A	NM_000384.3	NP_000375.3:p.(Val4128Met)	NC_000002.11:g.21225912C>T	(Likely) benign	3 labs	112fbf47b9
18:43547173 EPG5 G>C	18	43547173	43547173	G	C	EPG5	c.33C>G	NM_020964.3	NP_066015.2:p.(Ala11=)	NC_000018.9:g.43547173G>C	(Likely) benign	2 labs	14347aecd5
19:15285052 NOTCH3 T>C	19	15285052	15285052	T	C	NOTCH3	c.4563A>G	NM_000435.3	NP_000426.2:p.(Pro1521=)	NC_000019.9:g.15285052T>C	(Likely) benign	3 labs	113c5f6a8d
17:41243707 BRCA1 G>A	17	41243707	41243707	G	A	BRCA1	c.3841C>T	NM_007294.4	NP_009225.1:p.(Gln1281Ter)	NC_000017.10:g.41243707G>A	(Likely) pathogenic	2 labs	113cefe8db
2:179407391 TTN AGAATGATAACTT>A	2	179407391	179407403	AGAATGATAACTT	A	TTN	c.97178_97189del	NM_001267550.2	NP_001254479.2:p.(Lys32393_Leu32397delinsIle)	NC_000002.11:g.179407392_179407403del	VUS	2 labs	cd9942a65a
3:38639379 SCN5A C>T	3	38639379	38639379	C	T	SCN5A	c.2103G>A	NM_001099404.2	NP_001092874.1:p.(Pro701=)	NC_000003.11:g.38639379C>T	(Likely) benign	4 labs	11462be427
1:237821276 RYR2 T>C	1	237821276	237821276	T	C	RYR2	c.8162T>C	NM_001035.3	NP_001026.2:p.(Ile2721Thr)	NC_000001.10:g.237821276T>C	(Likely) benign	6 labs	115067682d
1:3160661 PRDM16 C>T	1	3160661	3160661	C	T	PRDM16	c.398C>T	NM_022114.4	NP_071397.3:p.(Thr133Met)	NC_000001.10:g.3160661C>T	VUS	2 labs	1155771a77
13:32915321 BRCA2 C>G	13	32915321	32915321	C	G	BRCA2	c.6829C>G	NM_000059.4	NP_000050.3:p.(Leu2277Val)	NC_000013.10:g.32915321C>G	(Likely) benign	2 labs	cdf530716f
19:11363146 DOCK6 A>T	19	11363146	11363146	A	T	DOCK6	c.377+12T>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11363146A>T	(Likely) benign	2 labs	115a393a49
17:44248783 KANSL1 G>T	17	44248783	44248783	G	T	KANSL1	c.727C>A	NM_001193466.2	NP_001180395.1:p.(Gln243Lys)	NC_000017.10:g.44248783G>T	(Likely) benign	4 labs	115a50df14
1:152277826 FLG A>C	1	152277826	152277826	A	C	FLG	c.9536T>G	NM_002016.2	NP_002007.1:p.(Val3179Gly)	NC_000001.10:g.152277826A>C	(Likely) benign	2 labs	115b9a1b87
18:48603172 SMAD4 A>G	18	48603172	48603172	A	G	SMAD4	c.1447+26A>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48603172A>G	(Likely) benign	2 labs	ce20c7f365
9:21968159 CDKN2A G>A	9	21968159	21968159	G	A	CDKN2A	c.*69C>T	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21968159G>A	(Likely) benign	2 labs	ce814961b6
2:86481819 REEP1 T>A	2	86481819	86481819	T	A	REEP1	c.301A>T	NM_001371279.1	NP_001358208.1:p.(Lys101Ter)	NC_000002.11:g.86481819T>A	(Likely) pathogenic	2 labs	ce92c8b7d3
2:215632256 BARD1 A>G	2	215632256	215632256	A	G	BARD1	c.1518T>C	NM_000465.4	NP_000456.2:p.(His506=)	NC_000002.11:g.215632256A>G	(Likely) benign	2 labs	cedde2ab52
7:82435033 PCLO C>T	7	82435033	82435033	C	T	PCLO	c.14904G>A	NM_033026.6	NP_149015.2:p.(Gly4968=)	NC_000007.13:g.82435033C>T	(Likely) benign	2 labs	11701cc06a
13:32929322 BRCA2 T>C	13	32929322	32929322	T	C	BRCA2	c.7332T>C	NM_000059.4	NP_000050.3:p.(Asp2444=)	NC_000013.10:g.32929322T>C	(Likely) benign	2 labs	ceff090151
6:33409095 SYNGAP1 C>T	6	33409095	33409095	C	T	SYNGAP1	c.2059C>T	NM_006772.3	NP_006763.2:p.(Arg687Ter)	NC_000006.11:g.33409095C>T	(Likely) pathogenic	2 labs	cf35589b6f
17:41277354 BRCA1 G>A	17	41277354	41277354	G	A	BRCA1				NC_000017.10:g.41277354G>A	(Likely) benign	2 labs	cf65896e94
11:71155996 DHCR7 C>T	11	71155996	71155996	C	T	DHCR7	c.3G>A	NM_001360.3	NP_001351.2:p.(Met1?)	NC_000011.9:g.71155996C>T	(Likely) pathogenic	4 labs	1187ae1654
X:100656740 GLA C>T	X	100656740	100656740	C	T	GLA	c.427G>A	NM_000169.3	NP_000160.1:p.(Ala143Thr)	NC_000023.10:g.100656740C>T	(Likely) benign	5 labs	11889ad101
14:92349361 FBLN5 C>T	14	92349361	92349361	C	T	FBLN5	c.799G>A	NM_006329.4	NP_006320.2:p.(Gly267Ser)	NC_000014.8:g.92349361C>T	VUS	2 labs	119c3ed462
4:994414 IDUA G>A	4	994414	994414	G	A	IDUA	c.314G>A	NM_000203.5	NP_000194.2:p.(Arg105Gln)	NC_000004.11:g.994414G>A	(Likely) benign	4 labs	11a3fd1179
2:215610448 BARD1 G>T	2	215610448	215610448	G	T	BARD1	c.1808C>A	NM_000465.4	NP_000456.2:p.(Thr603Lys)	NC_000002.11:g.215610448G>T	VUS	2 labs	d052c5496a
8:144297157 GPIHBP1 T>G	8	144297157	144297157	T	G	GPIHBP1	c.319T>G	NM_178172.6	NP_835466.2:p.(Ser107Ala)	NC_000008.10:g.144297157T>G	VUS	2 labs	11a6f1e8f7
3:9516155 SETD5 C>T	3	9516155	9516155	C	T	SETD5	c.3520C>T	NM_001080517.3	NP_001073986.1:p.(Arg1174Ter)	NC_000003.11:g.9516155C>T	(Likely) pathogenic	2 labs	149a9a5945
3:15493173 COLQ G>A	3	15493173	15493173	G	A	COLQ	c.1316C>T	NM_080538.2	NP_536799.1:p.(Thr439Met)	NC_000003.11:g.15493173G>A	VUS	2 labs	1c7a0bbbc5
1:156106966 LMNA G>A	1	156106966	156106966	G	A	LMNA	c.1551G>A	NM_170707.4	NP_733821.1:p.(Gln517=)	NC_000001.10:g.156106966G>A	(Likely) benign	6 labs	11bd416b2f
9:35065349 VCP G>A	9	35065349	35065349	G	A	VCP	c.475C>T	NM_007126.3	NP_009057.1:p.(Arg159Cys)	NC_000009.11:g.35065349G>A	(Likely) pathogenic	2 labs	14a85ad77d
2:189863417 COL3A1 C>T	2	189863417	189863417	C	T	COL3A1	c.1995C>T	NM_000090.4	NP_000081.2:p.(Ala665=)	NC_000002.11:g.189863417C>T	(Likely) benign	2 labs	339bc73aa8
10:102752966 TWNK A>G	10	102752966	102752966	A	G	TWNK	c.1754A>G	NM_021830.5	NP_068602.2:p.(Asn585Ser)	NC_000010.10:g.102752966A>G	(Likely) pathogenic	3 labs	11c2fd114d
19:1207238 STK11 G>T	19	1207238	1207238	G	T	STK11	c.290+36G>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1207238G>T	(Likely) benign	2 labs	d157886fa5
15:57925807 MYZAP G>T	15	57925807	57925807	G	T	MYZAP	c.805-4G>T	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57925807G>T	(Likely) benign	2 labs	11d1cec79e
12:110019338 MVK C>T	12	110019338	110019338	C	T	MVK	c.510C>T	NM_000431.2	NP_000422.1:p.(Asp170=)	NC_000012.11:g.110019338C>T	(Likely) benign	2 labs	14b9eb720a
6:44268371 AARS2 T>C	6	44268371	44268371	T	C	AARS2	c.2871A>G	NM_020745.4	NP_065796.2:p.(Ser957=)	NC_000006.11:g.44268371T>C	(Likely) benign	2 labs	11daaf4504
6:51747934 PKHD1 G>A	6	51747934	51747934	G	A	PKHD1	c.7307C>T	NM_138694.4	NP_619639.3:p.(Thr2436Ile)	NC_000006.11:g.51747934G>A	(Likely) benign	2 labs	11dcdf07fb
10:102568983 PAX2 A>C	10	102568983	102568983	A	C	PAX2	c.909A>C	NM_003988.5	NP_003979.2:p.(Pro303=)	NC_000010.10:g.102568983A>C	(Likely) benign	3 labs	11dfd9092d
4:56212560 SRD5A3 G>A	4	56212560	56212560	G	A	SRD5A3	c.57G>A	NM_024592.5	NP_078868.1:p.(Trp19Ter)	NC_000004.11:g.56212560G>A	(Likely) pathogenic	2 labs	d1f5071337
2:21245813 APOB G>A	2	21245813	21245813	G	A	APOB	c.2706C>T	NM_000384.3	NP_000375.3:p.(Asn902=)	NC_000002.11:g.21245813G>A	(Likely) benign	2 labs	11e896d53a
1:173883881 SERPINC1 G>A	1	173883881	173883881	G	A	SERPINC1	c.218C>T	NM_000488.4	NP_000479.1:p.(Pro73Leu)	NC_000001.10:g.173883881G>A	(Likely) pathogenic	2 labs	11f8278365
X:153609104 EMD C>T	X	153609104	153609104	C	T	EMD	c.400-9C>T	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153609104C>T	(Likely) benign	4 labs	11f8e8e15f
10:89690764 PTEN A>G	10	89690764	89690764	A	G	PTEN	c.210-39A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89690764A>G	(Likely) benign	2 labs	d2f7a6bce8
17:59820434 BRIP1 A>T	17	59820434	59820434	A	T	BRIP1	c.2319T>A	NM_032043.2	NP_114432.2:p.(Asp773Glu)	NC_000017.10:g.59820434A>T	VUS	2 labs	d342fb2a8f
13:32906758 BRCA2 CA>C	13	32906758	32906762	CA	C	BRCA2	c.1147del	NM_000059.4	NP_000050.3:p.(Ile383SerfsTer16)	NC_000013.10:g.32906762del	(Likely) pathogenic	4 labs	121b221c1a
21:47409503 COL6A1 A>G	21	47409503	47409503	A	G	COL6A1	c.859-19A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47409503A>G	(Likely) benign	3 labs	12253fa35f
11:17663444 OTOG C>T	11	17663444	17663444	C	T	OTOG	c.8277C>T	NM_001277269.2	NP_001264198.1:p.(Cys2759=)	NC_000011.9:g.17663444C>T	(Likely) benign	2 labs	122947c7f0
1:156105747 LMNA G>A	1	156105747	156105747	G	A	LMNA	c.992G>A	NM_170707.4	NP_733821.1:p.(Arg331Gln)	NC_000001.10:g.156105747G>A	(Likely) pathogenic	6 labs	12383c5f9c
12:111351982 MYL2 G>A	12	111351982	111351982	G	A	MYL2	c.274+8C>T	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351982G>A	(Likely) benign	2 labs	14eb808b28
2:179395402 TTN C>T	2	179395402	179395402	C	T	TTN	c.105940G>A	NM_001267550.2	NP_001254479.2:p.(Ala35314Thr)	NC_000002.11:g.179395402C>T	VUS	2 labs	123d53a590
9:139903008 ABCA2 C>T	9	139903008	139903008	C	T	ABCA2	c.7225G>A	NM_212533.3	NP_997698.1:p.(Ala2409Thr)	NC_000009.11:g.139903008C>T	VUS	2 labs	12406ca305
7:157160104 DNAJB6 C>G	7	157160104	157160104	C	G	DNAJB6	c.273C>G	NM_058246.4	NP_490647.1:p.(Phe91Leu)	NC_000007.13:g.157160104C>G	(Likely) pathogenic	2 labs	124f77bc6d
5:126158547 LMNB1 ATAT>A	5	126158547	126158550	ATAT	A	LMNB1	c.1462_1464del	NM_005573.4	NP_005564.1:p.(Tyr488del)	NC_000005.9:g.126158548_126158550del	VUS	2 labs	125092ded8
17:44248830 KANSL1 C>T	17	44248830	44248830	C	T	KANSL1	c.680G>A	NM_001193466.2	NP_001180395.1:p.(Ser227Asn)	NC_000017.10:g.44248830C>T	(Likely) benign	2 labs	1254020f5b
X:135741443 CD40LG G>A	X	135741443	135741443	G	A	CD40LG	c.655G>A	NM_000074.2	NP_000065.1:p.(Gly219Arg)	NC_000023.10:g.135741443G>A	(Likely) benign	2 labs	151ca35243
15:48802353 FBN1 A>G	15	48802353	48802353	A	G	FBN1	c.1602T>C	NM_000138.5	NP_000129.3:p.(Cys534=)	NC_000015.9:g.48802353A>G	(Likely) benign	2 labs	d4f8483920
12:21995323 ABCC9 G>A	12	21995323	21995323	G	A	ABCC9	c.3398C>T	NM_020297.4	NP_064693.2:p.(Pro1133Leu)	NC_000012.11:g.21995323G>A	VUS	2 labs	12636e620d
22:50901036 SBF1 G>A	22	50901036	50901036	G	A	SBF1	c.2079C>T	NM_002972.4	NP_002963.2:p.(His693=)	NC_000022.10:g.50901036G>A	(Likely) benign	2 labs	1524d3170f
11:57373478 SERPING1 C>G	11	57373478	57373478	C	G	SERPING1	c.686-5C>G	NM_000062.2	NP_000053.2:p.?	NC_000011.9:g.57373478C>G	(Likely) benign	2 labs	152dc19434
17:7577139 TP53 G>A	17	7577139	7577139	G	A	TP53	c.799C>T	NM_000546.6	NP_000537.3:p.(Arg267Trp)	NC_000017.10:g.7577139G>A	(Likely) pathogenic	2 labs	d5745368f9
2:179600476 TTN G>A	2	179600476	179600476	G	A	TTN	c.14697C>T	NM_001267550.2	NP_001254479.2:p.(Ser4899=)	NC_000002.11:g.179600476G>A	(Likely) benign	2 labs	d58add1df5
17:62049574 SCN4A A>G	17	62049574	62049574	A	G	SCN4A	c.404T>C	NM_000334.4	NP_000325.4:p.(Met135Thr)	NC_000017.10:g.62049574A>G	(Likely) benign	2 labs	15383ada4f
X:119589400 LAMP2 C>A	X	119589400	119589400	C	A	LAMP2	c.209G>T	NM_002294.3	NP_002285.1:p.(Gly70Val)	NC_000023.10:g.119589400C>A	(Likely) benign	2 labs	128b503351
2:96919642 TMEM127 C>T	2	96919642	96919642	C	T	TMEM127	c.621G>A	NM_017849.3	NP_060319.1:p.(Ala207=)	NC_000002.11:g.96919642C>T	(Likely) benign	2 labs	153a513869
13:32954064 BRCA2 A>G	13	32954064	32954064	A	G	BRCA2	c.9117+14A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954064A>G	(Likely) benign	2 labs	d606fef680
12:110232124 TRPV4 G>A	12	110232124	110232124	G	A	TRPV4	c.1491+10C>T	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110232124G>A	(Likely) benign	2 labs	153e70a775
10:88683209 BMPR1A T>G	10	88683209	88683209	T	G	BMPR1A	c.1419T>G	NM_004329.2	NP_004320.2:p.(Val473=)	NC_000010.10:g.88683209T>G	(Likely) benign	2 labs	154475ae01
1:107979396 NTNG1 A>C	1	107979396	107979396	A	C	NTNG1	c.1365A>C	NM_001113226.3	NP_001106697.1:p.(Gly455=)	NC_000001.10:g.107979396A>C	(Likely) benign	2 labs	12973b93f1
2:96943473 SNRNP200 T>C	2	96943473	96943473	T	C	SNRNP200	c.5755-20A>G	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96943473T>C	(Likely) benign	2 labs	1299bbd6ea
11:47364363 MYBPC3 C>T	11	47364363	47364363	C	T	MYBPC3	c.1457+18G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364363C>T	(Likely) benign	2 labs	15468f43e3
11:108154920 ATM A>G	11	108154920	108154920	A	G	ATM	c.3747-34A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108154920A>G	(Likely) benign	2 labs	d6bbd484f3
11:108122823 ATM T>C	11	108122823	108122823	T	C	ATM	c.1802+65T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108122823T>C	(Likely) benign	2 labs	d71f8c56a8
22:40660887 TNRC6B A>G	22	40660887	40660887	A	G	TNRC6B	c.653A>G	NM_001162501.2	NP_001155973.1:p.(Asn218Ser)	NC_000022.10:g.40660887A>G	(Likely) benign	2 labs	12aa7af8fd
6:53135449 ELOVL5 T>C	6	53135449	53135449	T	C	ELOVL5	c.698A>G	NM_021814.5	NP_068586.1:p.(Tyr233Cys)	NC_000006.11:g.53135449T>C	(Likely) benign	3 labs	12b23c4265
4:114279597 ANK2 G>A	4	114279597	114279597	G	A	ANK2	c.9823G>A	NM_001148.6	NP_001139.3:p.(Asp3275Asn)	NC_000004.11:g.114279597G>A	VUS	2 labs	d7795a0613
1:237814821 RYR2 G>A	1	237814821	237814821	G	A	RYR2	c.7824+20G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237814821G>A	(Likely) benign	2 labs	12b4a08285
2:173355800 ITGA6 G>A	2	173355800	173355800	G	A	ITGA6	c.2728G>A	NM_000210.4	NP_000201.2:p.(Asp910Asn)	NC_000002.11:g.173355800G>A	(Likely) benign	2 labs	12b4bacb93
5:90055259 ADGRV1 G>A	5	90055259	90055259	G	A	ADGRV1	c.11974G>A	NM_032119.4	NP_115495.3:p.(Asp3992Asn)	NC_000005.9:g.90055259G>A	VUS	4 labs	12b8a929e3
11:77823791 ALG8 C>T	11	77823791	77823791	C	T	ALG8	c.803G>A	NM_001007027.3	NP_001007028.1:p.(Arg268Gln)	NC_000011.9:g.77823791C>T	(Likely) benign	2 labs	12c29fee86
5:112174439 APC GC>G	5	112174439	112174440	GC	G	APC	c.3149del	NM_000038.6	NP_000029.2:p.(Ala1050GlufsTer6)	NC_000005.9:g.112174440del	(Likely) pathogenic	2 labs	d7f790ec12
2:215646034 BARD1 A>C	2	215646034	215646034	A	C	BARD1	c.564T>G	NM_000465.4	NP_000456.2:p.(Pro188=)	NC_000002.11:g.215646034A>C	(Likely) benign	2 labs	d81a202b28
13:32972673 BRCA2 C>T	13	32972673	32972673	C	T	BRCA2	c.10023C>T	NM_000059.3	NP_000050.2:p.(Asp3341=)	NC_000013.10:g.32972673C>T	(Likely) benign	2 labs	d82a93997c
11:44286426 ALX4 G>A	11	44286426	44286426	G	A	ALX4	c.1214C>T	NM_021926.4	NP_068745.2:p.(Ala405Val)	NC_000011.9:g.44286426G>A	VUS	2 labs	12cd2d1069
2:179411212 TTN G>A	2	179411212	179411212	G	A	TTN	c.94846C>T	NM_001267550.2	NP_001254479.2:p.(Leu31616=)	NC_000002.11:g.179411212G>A	(Likely) benign	5 labs	12d36e9c34
5:52371047 ITGA2 A>G	5	52371047	52371047	A	G	ITGA2	c.2742-4A>G	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52371047A>G	(Likely) benign	2 labs	12d6786630
6:112457383 LAMA4 G>C	6	112457383	112457383	G	C	LAMA4	c.3356C>G	NM_001105206.3	NP_001098676.2:p.(Pro1119Arg)	NC_000006.11:g.112457383G>C	(Likely) benign	3 labs	12d6a9a182
17:56769979 RAD51C C>T	17	56769979	56769979	C	T	RAD51C	c.-26C>T	NM_002876.3	NP_002867.1:p.?	NC_000017.10:g.56769979C>T	(Likely) benign	2 labs	d878c1d98c
3:38770245 SCN10A C>A	3	38770245	38770245	C	A	SCN10A	c.2428G>T	NM_006514.4	NP_006505.4:p.(Gly810Trp)	NC_000003.11:g.38770245C>A	(Likely) benign	2 labs	12dc8527d6
9:130580393 ENG A>C	9	130580393	130580393	A	C	ENG	c.1686+6T>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130580393A>C	(Likely) benign	4 labs	12e61d05c5
20:62050982 KCNQ2 C>T	20	62050982	62050982	C	T	KCNQ2	c.1291G>A	NM_172107.4	NP_742105.1:p.(Gly431Arg)	NC_000020.10:g.62050982C>T	VUS	2 labs	12eb615847
5:125887751 ALDH7A1 C>G	5	125887751	125887751	C	G	ALDH7A1	c.1279G>C	NM_001182.5	NP_001173.2:p.(Glu427Gln)	NC_000005.9:g.125887751C>G	(Likely) pathogenic	5 labs	12ebdfa0b7
13:52549258 ATP7B A>G	13	52549258	52549258	A	G	ATP7B	c.98T>C	NM_000053.4	NP_000044.2:p.(Met33Thr)	NC_000013.10:g.52549258A>G	(Likely) benign	2 labs	12f5fbbaec
21:45711062 AIRE TGCCTGTCCCCTCC>T	21	45711062	45711077	TGCCTGTCCCCTCC	T	AIRE	c.967_979del	NM_000383.4	NP_000374.1:p.(Leu323SerfsTer51)	NC_000021.8:g.45711065_45711077del	(Likely) pathogenic	3 labs	12f712c538
12:42854205 PRICKLE1 A>G	12	42854205	42854205	A	G	PRICKLE1	c.1902T>C	NM_153026.3	NP_694571.2:p.(Ser634=)	NC_000012.11:g.42854205A>G	(Likely) benign	2 labs	12fe7baf99
19:6696496 C3 T>C	19	6696496	6696496	T	C	C3	c.2864-20A>G	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6696496T>C	(Likely) benign	2 labs	130f872b92
3:53764497 CACNA1D C>A	3	53764497	53764497	C	A	CACNA1D	c.2310C>A	NM_000720.4	NP_000711.1:p.(Ile770=)	NC_000003.11:g.53764497C>A	VUS	3 labs	1317701fa3
22:32266603 DEPDC5 A>G	22	32266603	32266603	A	G	DEPDC5	c.3358A>G	NM_001242896.3	NP_001229825.1:p.(Met1120Val)	NC_000022.10:g.32266603A>G	(Likely) benign	2 labs	1579718e31
1:43804396 MPL G>C	1	43804396	43804396	G	C	MPL	c.391+5G>C	NM_005373.3	NP_005364.1:p.?	NC_000001.10:g.43804396G>C	VUS	2 labs	132cc22ca3
X:7175283 STS G>A	X	7175283	7175283	G	A	STS	c.138G>A	NM_000351.7	NP_000342.3:p.(Arg46=)	NC_000023.10:g.7175283G>A	(Likely) benign	2 labs	132e5d8d16
11:108236264 ATM C>G	11	108236264	108236264	C	G	ATM	c.*29C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236264C>G	(Likely) benign	2 labs	daa0c6f647
19:7605566 PNPLA6 C>T	19	7605566	7605566	C	T	PNPLA6	c.792C>T	NM_001166111.2	NP_001159583.1:p.(Asn264=)	NC_000019.9:g.7605566C>T	(Likely) benign	2 labs	13425f2f32
5:138221989 CTNNA1 G>C	5	138221989	138221989	G	C	CTNNA1	c.1143+8G>C	NM_001903.2	NP_001894.2:p.?	NC_000005.9:g.138221989G>C	(Likely) benign	2 labs	db87da39b9
17:42451720 ITGA2B A>G	17	42451720	42451720	A	G	ITGA2B	c.3060+2T>C	NM_000419.5	NP_000410.2:p.?	NC_000017.10:g.42451720A>G	(Likely) pathogenic	2 labs	13676a901d
10:26355906 MYO3A G>A	10	26355906	26355906	G	A	MYO3A	c.956G>A	NM_017433.5	NP_059129.3:p.(Arg319His)	NC_000010.10:g.26355906G>A	(Likely) benign	2 labs	136d891bf0
17:10544018 MYH3 T>C	17	10544018	10544018	T	C	MYH3	c.2166-15A>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10544018T>C	(Likely) benign	3 labs	136e412b98
2:209108284 IDH1 T>C	2	209108284	209108284	T	C	IDH1	c.565A>G	NM_005896.4	NP_005887.2:p.(Ile189Val)	NC_000002.11:g.209108284T>C	VUS	2 labs	17150b0faa
5:95761586 PCSK1 C>T	5	95761586	95761586	C	T	PCSK1	c.334G>A	NM_000439.5	NP_000430.3:p.(Ala112Thr)	NC_000005.9:g.95761586C>T	(Likely) benign	2 labs	dbf7e17e3b
3:158362441 GFM1 T>C	3	158362441	158362441	T	C	GFM1	c.18T>C	NM_024996.7	NP_079272.4:p.(Ala6=)	NC_000003.11:g.158362441T>C	(Likely) benign	2 labs	137911bcfd
13:32930609 BRCA2 C>T	13	32930609	32930609	C	T	BRCA2	c.7480C>T	NM_000059.4	NP_000050.3:p.(Arg2494Ter)	NC_000013.10:g.32930609C>T	(Likely) pathogenic	2 labs	137adc706b
16:68835733 CDH1 A>G	16	68835733	68835733	A	G	CDH1	c.324A>G	NM_004360.5	NP_004351.1:p.(Arg108=)	NC_000016.9:g.68835733A>G	(Likely) benign	2 labs	dc4f9d3125
16:69727026 NFAT5 C>G	16	69727026	69727026	C	G	NFAT5	c.3016C>G	NM_138714.4	NP_619728.2:p.(Gln1006Glu)	NC_000016.9:g.69727026C>G	VUS	3 labs	1380df3b49
2:48027297 MSH6 C>G	2	48027297	48027297	C	G	MSH6	c.2175C>G	NM_000179.3	NP_000170.1:p.(Ile725Met)	NC_000002.11:g.48027297C>G	VUS	2 labs	138773fe7c
2:179464589 TTN A>T	2	179464589	179464589	A	T	TTN	c.56051-12T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179464589A>T	(Likely) benign	2 labs	dcb690c840
2:233712049 GIGYF2 G>A	2	233712049	233712049	G	A	GIGYF2	c.3461-9G>A	NM_015575.4	NP_056390.2:p.?	NC_000002.11:g.233712049G>A	(Likely) benign	3 labs	138780ada3
10:73501556 CDH23 G>A	10	73501556	73501556	G	A	CDH23	c.4723G>A	NM_022124.6	NP_071407.4:p.(Ala1575Thr)	NC_000010.10:g.73501556G>A	(Likely) benign	2 labs	1389f23f6e
6:112499354 LAMA4 C>T	6	112499354	112499354	C	T	LAMA4	c.1158G>A	NM_001105206.3	NP_001098676.2:p.(Glu386=)	NC_000006.11:g.112499354C>T	(Likely) benign	5 labs	138abeec57
1:215972392 USH2A G>A	1	215972392	215972392	G	A	USH2A	c.9815C>T	NM_206933.4	NP_996816.3:p.(Pro3272Leu)	NC_000001.10:g.215972392G>A	(Likely) pathogenic	2 labs	dd3e59afff
10:43610085 RET C>T	10	43610085	43610085	C	T	RET	c.2037C>T	NM_020975.6	NP_066124.1:p.(Pro679=)	NC_000010.10:g.43610085C>T	(Likely) benign	2 labs	dd5489d682
3:38592561 SCN5A T>C	3	38592561	38592561	T	C	SCN5A	c.5302A>G	NM_198056.3	NP_932173.1:p.(Ile1768Val)	NC_000003.11:g.38592561T>C	(Likely) pathogenic	2 labs	13a6f0f621
9:140904458 CACNA1B C>A	9	140904458	140904458	C	A	CACNA1B	c.2093-4C>A	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140904458C>A	(Likely) benign	3 labs	13af8deb74
11:93521241 MED17 A>C	11	93521241	93521241	A	C	MED17	c.325A>C	NM_004268.5	NP_004259.3:p.(Met109Leu)	NC_000011.9:g.93521241A>C	VUS	2 labs	037d875b09
6:100841711 SIM1 C>G	6	100841711	100841711	C	G	SIM1	c.1222G>C	NM_005068.3	NP_005059.2:p.(Gly408Arg)	NC_000006.11:g.100841711C>G	VUS	2 labs	13b6f6c8a9
16:88495407 ZNF469 G>C	16	88495407	88495407	G	C	ZNF469	c.1529G>C	NM_001367624.2	NP_001354553.1:p.(Gly510Ala)	NC_000016.9:g.88495407G>C	(Likely) benign	3 labs	13b7614f32
19:39071079 RYR1 C>T	19	39071079	39071079	C	T	RYR1	c.14581C>T	NM_000540.2	NP_000531.2:p.(Arg4861Cys)	NC_000019.9:g.39071079C>T	(Likely) pathogenic	2 labs	15c8789ad5
7:150647300 KCNH2 C>A	7	150647300	150647300	C	A	KCNH2	c.2354G>T	NM_000238.4	NP_000229.1:p.(Gly785Val)	NC_000007.13:g.150647300C>A	(Likely) pathogenic	2 labs	13bc487c4e
2:47641450 MSH2 C>G	2	47641450	47641450	C	G	MSH2	c.835C>G	NM_000251.3	NP_000242.1:p.(Leu279Val)	NC_000002.11:g.47641450C>G	(Likely) benign	3 labs	13bd331594
22:29091145 CHEK2 G>T	22	29091145	29091145	G	T	CHEK2	c.1345C>A	NM_007194.4	NP_009125.1:p.(Pro449Thr)	NC_000022.10:g.29091145G>T	(Likely) benign	2 labs	df18a7d1e2
8:87679178 CNGB3 TGGAGTCTG>T	8	87679178	87679188	TGGAGTCTG	T	CNGB3	c.819_826del	NM_019098.4	NP_061971.3:p.(Arg274ValfsTer13)	NC_000008.10:g.87679181_87679188del	(Likely) pathogenic	2 labs	df36183115
12:119624883 HSPB8 A>G	12	119624883	119624883	A	G	HSPB8	c.421A>G	NM_014365.3	NP_055180.1:p.(Lys141Glu)	NC_000012.11:g.119624883A>G	(Likely) pathogenic	2 labs	df49230d6b
X:106885667 PRPS1 C>T	X	106885667	106885667	C	T	PRPS1	c.477C>T	NM_002764.4	NP_002755.1:p.(Ile159=)	NC_000023.10:g.106885667C>T	(Likely) benign	2 labs	13c694b9fd
2:220419236 OBSL1 T>C	2	220419236	220419236	T	C	OBSL1	c.4836A>G	NM_015311.3	NP_056126.1:p.(Thr1612=)	NC_000002.11:g.220419236T>C	(Likely) benign	2 labs	13c81f9c75
13:32937333 BRCA2 A>G	13	32937333	32937333	A	G	BRCA2	c.7994A>G	NM_000059.4	NP_000050.3:p.(Asp2665Gly)	NC_000013.10:g.32937333A>G	(Likely) benign	2 labs	df9e501463
18:31241711 ASXL3 C>T	18	31241711	31241711	C	T	ASXL3	c.477+10C>T	NM_030632.3	NP_085135.1:p.?	NC_000018.9:g.31241711C>T	(Likely) benign	2 labs	15f864dbee
2:179435097 TTN C>A	2	179435097	179435097	C	A	TTN	c.75762G>T	NM_001267550.2	NP_001254479.2:p.(Val25254=)	NC_000002.11:g.179435097C>A	(Likely) benign	3 labs	1602c28faa
17:41276073 BRCA1 A>G	17	41276073	41276073	A	G	BRCA1	c.41T>C	NM_007294.3	NP_009225.1:p.(Val14Ala)	NC_000017.10:g.41276073A>G	VUS	2 labs	e0079dddad
20:62119777 EEF1A2 G>T	20	62119777	62119777	G	T	EEF1A2	c.1266C>A	NM_001958.5	NP_001949.1:p.(Gly422=)	NC_000020.10:g.62119777G>T	(Likely) benign	3 labs	13ed4628a6
19:38964127 RYR1 C>A	19	38964127	38964127	C	A	RYR1	c.3876C>A	NM_000540.2	NP_000531.2:p.(Leu1292=)	NC_000019.9:g.38964127C>A	(Likely) benign	2 labs	160676ab1f
11:47367811 MYBPC3 C>T	11	47367811	47367811	C	T	MYBPC3	c.1037G>A	NM_000256.3	NP_000247.2:p.(Arg346His)	NC_000011.9:g.47367811C>T	VUS	4 labs	140b8beb55
9:104189856 ALDOB C>G	9	104189856	104189856	C	G	ALDOB	c.448G>C	NM_000035.4	NP_000026.2:p.(Ala150Pro)	NC_000009.11:g.104189856C>G	(Likely) pathogenic	5 labs	140dae248c
20:57478807 GNAS C>T	20	57478807	57478807	C	T	GNAS	c.2322C>T	NM_080425.4	NP_536350.2:p.(Ile774=)	NC_000020.10:g.57478807C>T	(Likely) benign	3 labs	141528c7c3
11:108098278 ATM T>C	11	108098278	108098278	T	C	ATM	c.-30-44T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098278T>C	(Likely) benign	2 labs	e1680444b6
1:237801770 RYR2 T>C	1	237801770	237801770	T	C	RYR2	c.6906T>C	NM_001035.3	NP_001026.2:p.(Leu2302=)	NC_000001.10:g.237801770T>C	(Likely) benign	2 labs	142667c9d3
2:179456603 TTN G>T	2	179456603	179456603	G	T	TTN	c.59943C>A	NM_001267550.2	NP_001254479.2:p.(Pro19981=)	NC_000002.11:g.179456603G>T	(Likely) benign	5 labs	142c5c1024
11:108150351 ATM A>G	11	108150351	108150351	A	G	ATM	c.3402+16A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150351A>G	(Likely) benign	2 labs	e2175148d5
1:237841390 RYR2 A>G	1	237841390	237841390	A	G	RYR2	c.8873A>G	NM_001035.3	NP_001026.2:p.(Gln2958Arg)	NC_000001.10:g.237841390A>G	(Likely) benign	4 labs	1437865d84
3:24168981 THRB C>T	3	24168981	24168981	C	T	THRB	c.1144+9G>A	NM_001252634.2	NP_001239563.1:p.?	NC_000003.11:g.24168981C>T	(Likely) benign	2 labs	143cdb8dfc
15:76673716 SCAPER T>C	15	76673716	76673716	T	C	SCAPER	c.2967+3A>G	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.76673716T>C	(Likely) benign	2 labs	1440691f1d
3:38601671 SCN5A G>A	3	38601671	38601671	G	A	SCN5A	c.4212C>T	NM_001099404.2	NP_001092874.1:p.(Asn1404=)	NC_000003.11:g.38601671G>A	(Likely) benign	2 labs	1442de907c
9:130941316 CIZ1 C>A	9	130941316	130941316	C	A	CIZ1	c.1260G>T	NM_001257975.2	NP_001244904.1:p.(Gln420His)	NC_000009.11:g.130941316C>A	(Likely) benign	2 labs	14488ab007
11:101342958 TRPC6 G>A	11	101342958	101342958	G	A	TRPC6	c.2115C>T	NM_004621.6	NP_004612.2:p.(Tyr705=)	NC_000011.9:g.101342958G>A	(Likely) benign	2 labs	16617ba48d
1:201341191 TNNT2 G>T	1	201341191	201341191	G	T	TNNT2	c.53-22C>A	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201341191G>T	(Likely) benign	2 labs	144fa7b745
6:110107517 FIG4 T>C	6	110107517	110107517	T	C	FIG4	c.1961T>C	NM_014845.6	NP_055660.1:p.(Val654Ala)	NC_000006.11:g.110107517T>C	(Likely) benign	4 labs	1458bb65e7
7:42005678 GLI3 G>A	7	42005678	42005678	G	A	GLI3	c.2993C>T	NM_000168.6	NP_000159.3:p.(Pro998Leu)	NC_000007.13:g.42005678G>A	(Likely) benign	3 labs	145a925382
3:38591847 SCN5A G>C	3	38591847	38591847	G	C	SCN5A	c.6016C>G	NM_001099404.2	NP_001092874.1:p.(Pro2006Ala)	NC_000003.11:g.38591847G>C	(Likely) benign	5 labs	145b8d7520
2:238253403 COL6A3 G>A	2	238253403	238253403	G	A	COL6A3	c.7258C>T	NM_004369.4	NP_004360.2:p.(Arg2420Trp)	NC_000002.11:g.238253403G>A	VUS	3 labs	14818972c0
12:57944106 KIF5A C>T	12	57944106	57944106	C	T	KIF5A	c.52C>T	NM_004984.4	NP_004975.2:p.(Pro18Ser)	NC_000012.11:g.57944106C>T	VUS	2 labs	e39bfe364e
13:32936659 BRCA2 G>T	13	32936659	32936659	G	T	BRCA2	c.7806-1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32936659G>T	(Likely) pathogenic	4 labs	1489992bc5
2:48032088 MSH6 G>T	2	48032088	48032088	G	T	MSH6	c.3478G>T	NM_000179.2	NP_000170.1:p.(Val1160Phe)	NC_000002.11:g.48032088G>T	(Likely) pathogenic	2 labs	e3cab3788b
X:130420006 IGSF1 T>C	X	130420006	130420006	T	C	IGSF1	c.114A>G	NM_001170961.2	NP_001164432.1:p.(Pro38=)	NC_000023.10:g.130420006T>C	(Likely) benign	2 labs	148a3814db
3:47162516 SETD2 T>C	3	47162516	47162516	T	C	SETD2	c.3610A>G	NM_014159.7	NP_054878.5:p.(Ile1204Val)	NC_000003.11:g.47162516T>C	(Likely) benign	2 labs	148e52fafb
20:42744521 JPH2 G>T	20	42744521	42744521	G	T	JPH2	c.1794C>A	NM_020433.5	NP_065166.2:p.(Ser598=)	NC_000020.10:g.42744521G>T	(Likely) benign	4 labs	14a0145f0f
17:41244081 BRCA1 T>G	17	41244081	41244081	T	G	BRCA1	c.3467A>C	NM_007294.4	NP_009225.1:p.(Asp1156Ala)	NC_000017.10:g.41244081T>G	VUS	2 labs	14a0d30383
2:179621353 TTN G>A	2	179621353	179621353	G	A	TTN	c.10850C>T	NM_001267550.2	NP_001254479.2:p.(Ser3617Phe)	NC_000002.11:g.179621353G>A	(Likely) benign	4 labs	14a43fffab
3:129196984 IFT122 C>T	3	129196984	129196984	C	T	IFT122	c.1426C>T	NM_052985.4	NP_443711.2:p.(Arg476Trp)	NC_000003.11:g.129196984C>T	(Likely) benign	2 labs	14a6c153c0
14:20940515 PNP C>T	14	20940515	20940515	C	T	PNP	c.60C>T	NM_000270.4	NP_000261.2:p.(His20=)	NC_000014.8:g.20940515C>T	(Likely) benign	2 labs	14abe4c559
X:18665314 RS1 A>C	X	18665314	18665314	A	C	RS1	c.323T>G	NM_000330.4	NP_000321.1:p.(Phe108Cys)	NC_000023.10:g.18665314A>C	(Likely) pathogenic	2 labs	e4815f1965
1:230841687 AGT T>C	1	230841687	230841687	T	C	AGT	c.1089A>G	NM_001382817.3	NP_001369746.2:p.(Leu363=)	NC_000001.10:g.230841687T>C	(Likely) benign	2 labs	14bd252f00
10:89720855 PTEN T>TA	10	89720855	89720856	T	TA	PTEN	c.1007dup	NM_000314.8	NP_000305.3:p.(Tyr336Ter)	NC_000010.10:g.89720856dup	(Likely) pathogenic	2 labs	14c5a7be01
22:29130713 CHEK2 G>A	22	29130713	29130713	G	A	CHEK2	c.-4C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29130713G>A	VUS	2 labs	14d1045745
12:6128653 VWF G>A	12	6128653	6128653	G	A	VWF	c.3931C>T	NM_000552.5	NP_000543.3:p.(Gln1311Ter)	NC_000012.11:g.6128653G>A	(Likely) pathogenic	2 labs	14e046e9de
2:179584303 TTN G>A	2	179584303	179584303	G	A	TTN	c.23916C>T	NM_001267550.2	NP_001254479.2:p.(Cys7972=)	NC_000002.11:g.179584303G>A	(Likely) benign	2 labs	e570620254
4:114284645 ANK2 C>T	4	114284645	114284645	C	T	ANK2	c.10888+20C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114284645C>T	(Likely) benign	2 labs	14eb474516
22:17586471 IL17RA C>T	22	17586471	17586471	C	T	IL17RA	c.932-10C>T	NM_014339.7	NP_055154.3:p.?	NC_000022.10:g.17586471C>T	(Likely) benign	2 labs	14ebab255f
X:32536144 DMD T>G	X	32536144	32536144	T	G	DMD	c.2273A>C	NM_004006.3	NP_003997.2:p.(Asp758Ala)	NC_000023.10:g.32536144T>G	(Likely) benign	2 labs	14f2353a65
1:201332507 TNNT2 C>G	1	201332507	201332507	C	G	TNNT2	c.517G>C	NM_000364.4	NP_000355.2:p.(Glu173Gln)	NC_000001.10:g.201332507C>G	VUS	2 labs	14f2ca8653
18:28672067 DSC2 T>C	18	28672067	28672067	T	C	DSC2	c.351A>G	NM_004949.5	NP_004940.1:p.(Thr117=)	NC_000018.9:g.28672067T>C	(Likely) benign	6 labs	15054d9bd1
11:76901153 MYO7A G>A	11	76901153	76901153	G	A	MYO7A	c.3719G>A	NM_000260.4	NP_000251.3:p.(Arg1240Gln)	NC_000011.9:g.76901153G>A	(Likely) pathogenic	4 labs	15127b49cf
4:170359267 NEK1 G>C	4	170359267	170359267	G	C	NEK1	c.2731C>G	NM_001374418.1	NP_001361347.1:p.(Gln911Glu)	NC_000004.11:g.170359267G>C	(Likely) benign	2 labs	16c154af0f
2:136555659 LCT T>C	2	136555659	136555659	T	C	LCT	c.4916A>G	NM_002299.4	NP_002290.2:p.(Asn1639Ser)	NC_000002.11:g.136555659T>C	(Likely) benign	2 labs	15193e8f6b
8:42329771 SLC20A2 C>T	8	42329771	42329771	C	T	SLC20A2	c.138G>A	NM_001257180.2	NP_001244109.1:p.(Gln46=)	NC_000008.10:g.42329771C>T	(Likely) benign	2 labs	e67db84975
7:91726900 AKAP9 C>A	7	91726900	91726900	C	A	AKAP9	c.10399C>A	NM_005751.5	NP_005742.4:p.(Pro3467Thr)	NC_000007.13:g.91726900C>A	VUS	2 labs	151eca0b44
7:6043495 PMS2 T>C	7	6043495	6043495	T	C	PMS2	c.251-72A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6043495T>C	(Likely) benign	2 labs	e6d76177b4
17:4647966 ZMYND15 G>A	17	4647966	4647966	G	A	ZMYND15	c.1730G>A	NM_001136046.3	NP_001129518.1:p.(Arg577Gln)	NC_000017.10:g.4647966G>A	VUS	2 labs	152177be24
1:120611964 NOTCH2 G>C	1	120611964	120611964	G	C	NOTCH2	c.57C>G	NM_024408.4	NP_077719.2:p.(Cys19Trp)	NC_000001.10:g.120611964G>C	(Likely) benign	3 labs	1530c01995
6:36263171 PNPLA1 G>A	6	36263171	36263171	G	A	PNPLA1	c.745G>A	NM_001145717.1	NP_001139189.2:p.(Glu249Lys)	NC_000006.11:g.36263171G>A	(Likely) benign	2 labs	1536344210
17:10450816 MYH2 T>C	17	10450816	10450816	T	C	MYH2	c.324A>G	NM_001100112.2	NP_001093582.1:p.(Glu108=)	NC_000017.10:g.10450816T>C	(Likely) benign	3 labs	15367c8054
16:88884435 GALNS C>T	16	88884435	88884435	C	T	GALNS	c.1462G>A	NM_000512.5	NP_000503.1:p.(Val488Met)	NC_000016.9:g.88884435C>T	(Likely) benign	2 labs	1549cf1807
16:85690011 GSE1 G>A	16	85690011	85690011	G	A	GSE1	c.740G>A	NM_001134473.3	NP_001127945.1:p.(Arg247His)	NC_000016.9:g.85690011G>A	VUS	2 labs	154f33eaf7
11:95825374 MAML2 TTGC>T	11	95825374	95825415	TTGC	T	MAML2	c.1818_1820del	NM_032427.4	NP_115803.1:p.(Gln621del)	NC_000011.9:g.95825413_95825415del	(Likely) benign	3 labs	15526390e9
7:150644718 KCNH2 T>C	7	150644718	150644718	T	C	KCNH2	c.2941A>G	NM_000238.4	NP_000229.1:p.(Ser981Gly)	NC_000007.13:g.150644718T>C	(Likely) benign	4 labs	1554f59aa4
11:26655845 ANO3 C>T	11	26655845	26655845	C	T	ANO3	c.1968C>T	NM_031418.4	NP_113606.2:p.(Ile656=)	NC_000011.9:g.26655845C>T	(Likely) benign	3 labs	1555921307
13:32953459 BRCA2 T>G	13	32953459	32953459	T	G	BRCA2	c.8760T>G	NM_000059.3	NP_000050.2:p.(Tyr2920Ter)	NC_000013.10:g.32953459T>G	(Likely) pathogenic	2 labs	e879d809a8
2:15676686 NBAS G>A	2	15676686	15676686	G	A	NBAS	c.514-11C>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15676686G>A	(Likely) benign	2 labs	155bd080bb
14:23851737 MYH6 C>T	14	23851737	23851737	C	T	MYH6	c.5696G>A	NM_002471.4	NP_002462.2:p.(Arg1899His)	NC_000014.8:g.23851737C>T	VUS	2 labs	1563a2c8f2
2:48030571 MSH6 G>T	2	48030571	48030571	G	T	MSH6	c.3185G>T	NM_000179.2	NP_000170.1:p.(Cys1062Phe)	NC_000002.11:g.48030571G>T	(Likely) pathogenic	2 labs	e8f2c9f4aa
16:57921752 CNGB1 A>G	16	57921752	57921752	A	G	CNGB1	c.3462+7T>C	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57921752A>G	(Likely) benign	2 labs	15683de7f7
17:41215425 BRCA1 G>A	17	41215425	41215425	G	A	BRCA1	c.5153-35C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215425G>A	(Likely) benign	2 labs	e9310aa30a
7:50605626 DDC C>T	7	50605626	50605626	C	T	DDC	c.367G>A	NM_000790.4	NP_000781.2:p.(Gly123Arg)	NC_000007.13:g.50605626C>T	(Likely) pathogenic	2 labs	156d2c828e
12:52082638 SCN8A G>T	12	52082638	52082638	G	T	SCN8A	c.706+5G>T	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52082638G>T	(Likely) benign	3 labs	1915939fd3
7:124499002 POT1 AT>CA	7	124499002	124499003	AT	CA	POT1	c.702+8_702+9delinsTG	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124499002_124499003delinsCA	(Likely) benign	2 labs	e990bf2a97
2:179664396 TTN G>A	2	179664396	179664396	G	A	TTN	c.732C>T	NM_001267550.1	NP_001254479.1:p.(Ala244=)	NC_000002.11:g.179664396G>A	(Likely) benign	2 labs	170c237bee
19:6697406 C3 A>G	19	6697406	6697406	A	G	C3	c.2745T>C	NM_000064.4	NP_000055.2:p.(Ala915=)	NC_000019.9:g.6697406A>G	(Likely) benign	2 labs	157da781e9
1:53675923 CPT2 C>T	1	53675923	53675923	C	T	CPT2	c.577C>T	NM_000098.3	NP_000089.1:p.(Arg193Cys)	NC_000001.10:g.53675923C>T	(Likely) pathogenic	3 labs	157dfd4cf5
9:136412346 ADAMTSL2 C>T	9	136412346	136412346	C	T	ADAMTSL2	c.939+11C>T	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136412346C>T	(Likely) benign	3 labs	1591d5db57
17:41226672 BRCA1 G>A	17	41226672	41226672	G	A	BRCA1	c.4485-134C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226672G>A	(Likely) benign	2 labs	171ebc2312
2:220283239 DES G>A	2	220283239	220283239	G	A	DES	c.55G>A	NM_001927.4	NP_001918.3:p.(Gly19Ser)	NC_000002.11:g.220283239G>A	VUS	2 labs	15a0d9aa95
4:5570161 EVC2 C>T	4	5570161	5570161	C	T	EVC2	c.3557+10G>A	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5570161C>T	(Likely) benign	2 labs	1724e1e00f
19:1391005 NDUFS7 G>A	19	1391005	1391005	G	A	NDUFS7	c.364G>A	NM_024407.5	NP_077718.3:p.(Val122Met)	NC_000019.9:g.1391005G>A	(Likely) pathogenic	5 labs	15b71b8b2b
2:179612315 TTN T>C	2	179612315	179612315	T	C	TTN	c.14812A>G	NM_133379.5	NP_596870.2:p.(Met4938Val)	NC_000002.11:g.179612315T>C	(Likely) benign	4 labs	15bd521cb2
17:41215907 BRCA1 C>T	17	41215907	41215907	C	T	BRCA1	c.5136G>A	NM_007294.4	NP_009225.1:p.(Trp1712Ter)	NC_000017.10:g.41215907C>T	(Likely) pathogenic	2 labs	15bf38f813
10:91007361 LIPA C>T	10	91007361	91007361	C	T	LIPA	c.45G>A	NM_000235.4	NP_000226.2:p.(Trp15Ter)	NC_000010.10:g.91007361C>T	(Likely) pathogenic	2 labs	15c1c81c08
14:23866770 MYH6 C>T	14	23866770	23866770	C	T	MYH6	c.1944G>A	NM_002471.4	NP_002462.2:p.(Thr648=)	NC_000014.8:g.23866770C>T	(Likely) benign	2 labs	15c3260f06
8:72129009 EYA1 G>A	8	72129009	72129009	G	A	EYA1	c.1278C>T	NM_000503.6	NP_000494.2:p.(Gly426=)	NC_000008.10:g.72129009G>A	(Likely) benign	3 labs	15c5c7702e
11:61722645 BEST1 C>A	11	61722645	61722645	C	A	BEST1	c.39C>A	NM_001139443.2	NP_001132915.1:p.(Ile13=)	NC_000011.9:g.61722645C>A	(Likely) benign	2 labs	15cb8093e6
1:116260532 CASQ2 A>T	1	116260532	116260532	A	T	CASQ2	c.784-17T>A	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116260532A>T	(Likely) benign	4 labs	15d2c3e4b2
5:178567054 ADAMTS2 A>G	5	178567054	178567054	A	G	ADAMTS2	c.1630-18T>C	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178567054A>G	(Likely) benign	2 labs	15d612cb48
19:18707878 CRLF1 A>C	19	18707878	18707878	A	C	CRLF1	c.698-19T>G	NM_004750.5	NP_004741.1:p.?	NC_000019.9:g.18707878A>C	(Likely) benign	2 labs	15dc07f68d
8:145699895 FOXH1 C>T	8	145699895	145699895	C	T	FOXH1	c.824G>A	NM_003923.3	NP_003914.1:p.(Gly275Glu)	NC_000008.10:g.145699895C>T	VUS	2 labs	15dda5f484
18:32407562 DTNA C>T	18	32407562	32407562	C	T	DTNA	c.1007C>T	NM_001198939.2	NP_001185868.1:p.(Pro336Leu)	NC_000018.9:g.32407562C>T	VUS	2 labs	15deffc599
3:37092047 MLH1 G>A	3	37092047	37092047	G	A	MLH1	c.2174G>A	NM_000249.4	NP_000240.1:p.(Arg725His)	NC_000003.11:g.37092047G>A	VUS	2 labs	ec2963a540
20:10639199 JAG1 T>C	20	10639199	10639199	T	C	JAG1	c.611A>G	NM_000214.3	NP_000205.1:p.(Asp204Gly)	NC_000020.10:g.10639199T>C	VUS	3 labs	15e0a31566
10:78709082 KCNMA1 C>T	10	78709082	78709082	C	T	KCNMA1	c.2353G>A	NM_002247.4	NP_002238.2:p.(Val785Met)	NC_000010.10:g.78709082C>T	VUS	2 labs	15e9331424
12:110734471 ATP2A2 G>A	12	110734471	110734471	G	A	ATP2A2	c.392G>A	NM_170665.4	NP_733765.1:p.(Arg131Gln)	NC_000012.11:g.110734471G>A	(Likely) pathogenic	2 labs	15e953493d
2:48026845 MSH6 G>T	2	48026845	48026845	G	T	MSH6	c.1723G>T	NM_000179.3	NP_000170.1:p.(Asp575Tyr)	NC_000002.11:g.48026845G>T	(Likely) pathogenic	3 labs	15f35d560b
18:55273918 NARS1 T>G	18	55273918	55273918	T	G	NARS1	c.1067A>C	NM_004539.4	NP_004530.1:p.(Asp356Ala)	NC_000018.9:g.55273918T>G	VUS	3 labs	15f446a88a
9:135203409 SETX A>C	9	135203409	135203409	A	C	SETX	c.3576T>G	NM_015046.7	NP_055861.3:p.(Asp1192Glu)	NC_000009.11:g.135203409A>C	(Likely) benign	4 labs	15fcaca438
2:47703681 MSH2 T>C	2	47703681	47703681	T	C	MSH2	c.2181T>C	NM_000251.3	NP_000242.1:p.(Ala727=)	NC_000002.11:g.47703681T>C	(Likely) benign	2 labs	16000c5e12
17:41245180 BRCA1 T>C	17	41245180	41245180	T	C	BRCA1	c.2368A>G	NM_007294.4	NP_009225.1:p.(Thr790Ala)	NC_000017.10:g.41245180T>C	(Likely) benign	2 labs	ed26ba3229
1:237038161 MTR T>C	1	237038161	237038161	T	C	MTR	c.2594+15T>C	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038161T>C	(Likely) benign	2 labs	1603e1c82e
5:112178027 APC G>A	5	112178027	112178027	G	A	APC	c.6736G>A	NM_000038.6	NP_000029.2:p.(Val2246Ile)	NC_000005.9:g.112178027G>A	VUS	2 labs	1623eaf6f0
2:179643760 TTN C>T	2	179643760	179643760	C	T	TTN	c.4049G>A	NM_001267550.2	NP_001254479.2:p.(Arg1350His)	NC_000002.11:g.179643760C>T	VUS	2 labs	1623ee1697
3:129251434 RHO G>C	3	129251434	129251434	G	C	RHO	c.755G>C	NM_000539.3	NP_000530.1:p.(Arg252Pro)	NC_000003.11:g.129251434G>C	VUS	3 labs	16276b9dcf
17:41201179 BRCA1 C>T	17	41201179	41201179	C	T	BRCA1	c.5365G>A	NM_007294.4	NP_009225.1:p.(Ala1789Thr)	NC_000017.10:g.41201179C>T	(Likely) pathogenic	3 labs	16435ee5ae
13:23909622 SACS G>T	13	23909622	23909622	G	T	SACS	c.8393C>A	NM_014363.6	NP_055178.3:p.(Pro2798Gln)	NC_000013.10:g.23909622G>T	VUS	5 labs	16466cf9b9
11:108121636 ATM A>C	11	108121636	108121636	A	C	ATM	c.1444A>C	NM_000051.3	NP_000042.3:p.(Lys482Gln)	NC_000011.9:g.108121636A>C	VUS	2 labs	17ad4022f8
17:39768562 KRT16 G>A	17	39768562	39768562	G	A	KRT16	c.379C>T	NM_005557.4	NP_005548.2:p.(Arg127Cys)	NC_000017.10:g.39768562G>A	(Likely) pathogenic	2 labs	164df9b2a8
7:6018444 PMS2 A>G	7	6018444	6018444	A	G	PMS2	c.2175-117T>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6018444A>G	(Likely) benign	2 labs	ee3c0a5fef
2:74177777 DGUOK A>G	2	74177777	74177777	A	G	DGUOK	c.509A>G	NM_080916.3	NP_550438.1:p.(Gln170Arg)	NC_000002.11:g.74177777A>G	(Likely) benign	3 labs	1652254833
7:128481541 FLNC G>A	7	128481541	128481541	G	A	FLNC	c.2041G>A	NM_001458.5	NP_001449.3:p.(Gly681Ser)	NC_000007.13:g.128481541G>A	VUS	4 labs	1653b52446
14:23884889 MYH7 C>T	14	23884889	23884889	C	T	MYH7	c.5106G>A	NM_000257.4	NP_000248.2:p.(Ala1702=)	NC_000014.8:g.23884889C>T	(Likely) benign	5 labs	165a0e7593
10:82034842 MAT1A A>G	10	82034842	82034842	A	G	MAT1A	c.882T>C	NM_000429.3	NP_000420.1:p.(Ala294=)	NC_000010.10:g.82034842A>G	(Likely) benign	2 labs	165a745b8f
21:47850484 PCNT G>C	21	47850484	47850484	G	C	PCNT	c.7977G>C	NM_006031.6	NP_006022.3:p.(Gln2659His)	NC_000021.8:g.47850484G>C	(Likely) benign	2 labs	165d5aef25
11:64575045 MEN1 C>T	11	64575045	64575045	C	T	MEN1	c.777G>A	NM_000244.3	NP_000235.2:p.(Leu259=)	NC_000011.9:g.64575045C>T	(Likely) benign	2 labs	17c7d0c5b6
1:113456546 SLC16A1 A>T	1	113456546	113456546	A	T	SLC16A1	c.1470T>A	NM_003051.3	NP_003042.3:p.(Asp490Glu)	NC_000001.10:g.113456546A>T	(Likely) benign	2 labs	17cab3162c
6:7579582 DSP TAAG>T	6	7579582	7579587	TAAG	T	DSP	c.3162_3164del	NM_004415.4	NP_004406.2:p.(Lys1054del)	NC_000006.11:g.7579585_7579587del	VUS	2 labs	165f597e98
2:202050677 CASP10 A>G	2	202050677	202050677	A	G	CASP10	c.177A>G	NM_032977.4	NP_116759.2:p.(Ser59=)	NC_000002.11:g.202050677A>G	(Likely) benign	2 labs	1661bd7ec0
11:65635801 EFEMP2 G>A	11	65635801	65635801	G	A	EFEMP2	c.939C>T	NM_016938.5	NP_058634.4:p.(Asn313=)	NC_000011.9:g.65635801G>A	(Likely) benign	2 labs	eeee9c0e21
2:179433654 TTN C>T	2	179433654	179433654	C	T	TTN	c.77205G>A	NM_001267550.2	NP_001254479.2:p.(Val25735=)	NC_000002.11:g.179433654C>T	(Likely) benign	6 labs	1679306ada
1:3328334 PRDM16 C>T	1	3328334	3328334	C	T	PRDM16	c.1573C>T	NM_022114.4	NP_071397.3:p.(Arg525Trp)	NC_000001.10:g.3328334C>T	VUS	2 labs	168890129e
3:8787433 CAV3 C>T	3	8787433	8787433	C	T	CAV3	c.336C>T	NM_033337.3	NP_203123.1:p.(Ile112=)	NC_000003.11:g.8787433C>T	(Likely) benign	5 labs	16938855c3
17:8135061 CTC1 T>C	17	8135061	8135061	T	C	CTC1	c.2458A>G	NM_025099.6	NP_079375.3:p.(Ile820Val)	NC_000017.10:g.8135061T>C	(Likely) benign	2 labs	16a213e29b
11:89018092 TYR G>A	11	89018092	89018092	G	A	TYR	c.1336G>A	NM_000372.5	NP_000363.1:p.(Gly446Ser)	NC_000011.9:g.89018092G>A	(Likely) pathogenic	2 labs	efe86ba19a
17:6330068 AIPL1 T>C	17	6330068	6330068	T	C	AIPL1	c.651A>G	NM_014336.5	NP_055151.3:p.(Pro217=)	NC_000017.10:g.6330068T>C	(Likely) benign	2 labs	16a7278796
2:179547459 TTN T>C	2	179547459	179547459	T	C	TTN	c.33059A>G	NM_001267550.2	NP_001254479.2:p.(Tyr11020Cys)	NC_000002.11:g.179547459T>C	(Likely) benign	4 labs	16a7811edf
15:85360445 ALPK3 C>T	15	85360445	85360445	C	T	ALPK3				NC_000015.9:g.85360445C>T	VUS	2 labs	1802b232cc
9:136221568 SURF1 A>G	9	136221568	136221568	A	G	SURF1	c.269T>C	NM_003172.4	NP_003163.1:p.(Leu90Pro)	NC_000009.11:g.136221568A>G	(Likely) pathogenic	4 labs	16a9a3a669
11:32417962 WT1 A>G	11	32417962	32417962	A	G	WT1	c.1114-9T>C	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32417962A>G	(Likely) benign	4 labs	16aab54700
13:32905024 BRCA2 A>G	13	32905024	32905024	A	G	BRCA2	c.682-32A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905024A>G	(Likely) benign	2 labs	f088f60782
2:47698308 MSH2 A>G	2	47698308	47698308	A	G	MSH2	c.1759+107A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698308A>G	(Likely) benign	2 labs	f09c8c55e7
17:41243908 BRCA1 C>T	17	41243908	41243908	C	T	BRCA1	c.3640G>A	NM_007294.4	NP_009225.1:p.(Glu1214Lys)	NC_000017.10:g.41243908C>T	(Likely) benign	4 labs	16aeee511d
5:138266546 CTNNA1 G>A	5	138266546	138266546	G	A	CTNNA1	c.2220G>A	NM_001903.2	NP_001894.2:p.(Ser740=)	NC_000005.9:g.138266546G>A	(Likely) benign	2 labs	f0c33461a3
19:38948878 RYR1 G>A	19	38948878	38948878	G	A	RYR1	c.2113G>A	NM_000540.2	NP_000531.2:p.(Gly705Arg)	NC_000019.9:g.38948878G>A	(Likely) pathogenic	2 labs	181ea42bf0
17:58740581 PPM1D A>G	17	58740581	58740581	A	G	PPM1D	c.1486A>G	NM_003620.4	NP_003611.1:p.(Ile496Val)	NC_000017.10:g.58740581A>G	(Likely) benign	2 labs	16b65af627
8:145583505 SLC52A2 C>A	8	145583505	145583505	C	A	SLC52A2	c.353C>A	NM_024531.5	NP_078807.1:p.(Ala118Asp)	NC_000008.10:g.145583505C>A	(Likely) benign	3 labs	16bd74d9f3
8:133920518 TG A>G	8	133920518	133920518	A	G	TG	c.3935A>G	NM_003235.5	NP_003226.4:p.(Asp1312Gly)	NC_000008.10:g.133920518A>G	(Likely) benign	2 labs	16bee7997d
11:108151631 ATM G>T	11	108151631	108151631	G	T	ATM	c.3403-91G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151631G>T	(Likely) benign	2 labs	f14c03a200
2:21237971 APOB G>A	2	21237971	21237971	G	A	APOB	c.3670C>T	NM_000384.3	NP_000375.3:p.(Arg1224Trp)	NC_000002.11:g.21237971G>A	(Likely) benign	2 labs	16c975abc1
14:23862870 MYH6 C>T	14	23862870	23862870	C	T	MYH6	c.2928+5G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23862870C>T	(Likely) benign	6 labs	16d4ee0467
2:179613179 TTN G>A	2	179613179	179613179	G	A	TTN	c.13948C>T	NM_133379.5	NP_596870.2:p.(Pro4650Ser)	NC_000002.11:g.179613179G>A	(Likely) benign	6 labs	16e4b222c8
17:33445549 RAD51D G>A	17	33445549	33445549	G	A	RAD51D	c.234C>T	NM_002878.3	NP_002869.3:p.(Ser78=)	NC_000017.10:g.33445549G>A	(Likely) benign	2 labs	f1fbbc7345
15:85384087 ALPK3 C>T	15	85384087	85384087	C	T	ALPK3	c.1577C>T	NM_020778.5	NP_065829.4:p.(Thr526Met)	NC_000015.9:g.85384087C>T	VUS	2 labs	16ede64970
10:69882040 MYPN A>G	10	69882040	69882040	A	G	MYPN	c.845A>G	NM_032578.4	NP_115967.2:p.(Glu282Gly)	NC_000010.10:g.69882040A>G	VUS	3 labs	16fb44b7fc
2:217315787 SMARCAL1 T>C	2	217315787	217315787	T	C	SMARCAL1	c.2070T>C	NM_014140.4	NP_054859.2:p.(Thr690=)	NC_000002.11:g.217315787T>C	(Likely) benign	2 labs	16fdd42767
22:50964862 TYMP G>A	22	50964862	50964862	G	A	TYMP	c.972C>T	NM_001113756.3	NP_001107228.1:p.(Ala324=)	NC_000022.10:g.50964862G>A	(Likely) benign	2 labs	170389eed7
7:113518355 PPP1R3A G>T	7	113518355	113518355	G	T	PPP1R3A	c.2792C>A	NM_002711.4	NP_002702.2:p.(Ala931Glu)	NC_000007.13:g.113518355G>T	(Likely) benign	2 labs	17112d7dd8
6:119136133 MCM9 T>C	6	119136133	119136133	T	C	MCM9	c.3286A>G	NM_017696.3	NP_060166.2:p.(Met1096Val)	NC_000006.11:g.119136133T>C	(Likely) benign	2 labs	f2d5179ae5
2:48027886 MSH6 C>T	2	48027886	48027886	C	T	MSH6	c.2764C>T	NM_000179.2	NP_000170.1:p.(Arg922Ter)	NC_000002.11:g.48027886C>T	(Likely) pathogenic	2 labs	f2e6ee4239
3:136136753 STAG1 T>C	3	136136753	136136753	T	C	STAG1	c.2170A>G	NM_005862.3	NP_005853.2:p.(Ile724Val)	NC_000003.11:g.136136753T>C	VUS	2 labs	171f3afdfb
19:15300069 NOTCH3 T>C	19	15300069	15300069	T	C	NOTCH3	c.1192+15A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15300069T>C	(Likely) benign	3 labs	1728fd4753
14:105180706 INF2 A>C	14	105180706	105180706	A	C	INF2	c.3207A>C	NM_022489.4	NP_071934.3:p.(Pro1069=)	NC_000014.8:g.105180706A>C	(Likely) benign	3 labs	1732eb9acc
6:51747977 PKHD1 A>C	6	51747977	51747977	A	C	PKHD1	c.7264T>G	NM_138694.4	NP_619639.3:p.(Cys2422Gly)	NC_000006.11:g.51747977A>C	VUS	2 labs	1733e0396e
17:56774080 RAD51C T>C	17	56774080	56774080	T	C	RAD51C	c.431T>C	NM_058216.1	NP_478123.1:p.(Ile144Thr)	NC_000017.10:g.56774080T>C	VUS	2 labs	f385e115e9
9:79865158 VPS13A T>C	9	79865158	79865158	T	C	VPS13A	c.2170+13T>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79865158T>C	(Likely) benign	2 labs	1744146cfa
2:47604148 EPCAM T>C	2	47604148	47604148	T	C	EPCAM	c.492-5T>C	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47604148T>C	(Likely) benign	3 labs	187725c80e
2:48030458 MSH6 G>C	2	48030458	48030458	G	C	MSH6				NC_000002.11:g.48030458G>C	(Likely) benign	2 labs	f4d3bd0f39
15:34542872 SLC12A6 C>G	15	34542872	34542872	C	G	SLC12A6	c.1524G>C	NM_001042496.2	NP_001035961.1:p.(Pro508=)	NC_000015.9:g.34542872C>G	(Likely) benign	2 labs	17471886ff
4:126371860 FAT4 C>T	4	126371860	126371860	C	T	FAT4	c.9689C>T	NM_024582.6	NP_078858.4:p.(Ala3230Val)	NC_000004.11:g.126371860C>T	VUS	2 labs	1747bd2ab6
17:42429455 GRN C>T	17	42429455	42429455	C	T	GRN	c.1252C>T	NM_002087.4	NP_002078.1:p.(Arg418Ter)	NC_000017.10:g.42429455C>T	(Likely) pathogenic	2 labs	f481709998
13:32968933 BRCA2 G>C	13	32968933	32968933	G	C	BRCA2	c.9364G>C	NM_000059.4	NP_000050.3:p.(Ala3122Pro)	NC_000013.10:g.32968933G>C	(Likely) pathogenic	2 labs	17531d63a7
6:112506481 LAMA4 C>T	6	112506481	112506481	C	T	LAMA4	c.1035G>A	NM_001105206.3	NP_001098676.2:p.(Thr345=)	NC_000006.11:g.112506481C>T	(Likely) benign	5 labs	1754afa4d9
17:78055758 CCDC40 T>G	17	78055758	78055758	T	G	CCDC40	c.1890T>G	NM_017950.4	NP_060420.2:p.(Ala630=)	NC_000017.10:g.78055758T>G	(Likely) benign	2 labs	176d0c70cc
2:215657182 BARD1 TAA>T	2	215657182	215657198	TAA	T	BARD1	c.216-15_216-14del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657197_215657198del	(Likely) benign	2 labs	18a53bafd2
5:179260153 SQSTM1 C>T	5	179260153	179260153	C	T	SQSTM1	c.624C>T	NM_001142298.2	NP_001135770.1:p.(Asp208=)	NC_000005.9:g.179260153C>T	(Likely) benign	4 labs	17706a4a0a
22:19868177 TXNRD2 C>T	22	19868177	19868177	C	T	TXNRD2	c.1150G>A	NM_006440.5	NP_006431.2:p.(Gly384Ser)	NC_000022.10:g.19868177C>T	(Likely) benign	2 labs	1771c617a6
X:32536251 DMD AAGAC>A	X	32536251	32536257	AAGAC	A	DMD	c.2169-7_2169-4del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32536254_32536257del	(Likely) benign	2 labs	1776d9a6dc
12:9020912 A2ML1 A>G	12	9020912	9020912	A	G	A2ML1	c.4020A>G	NM_144670.6	NP_653271.3:p.(Gln1340=)	NC_000012.11:g.9020912A>G	(Likely) benign	3 labs	1781522c04
12:91445206 KERA G>A	12	91445206	91445206	G	A	KERA	c.976C>T	NM_007035.4	NP_008966.1:p.(Arg326Cys)	NC_000012.11:g.91445206G>A	VUS	2 labs	f57f4219c4
14:102478201 DYNC1H1 G>A	14	102478201	102478201	G	A	DYNC1H1	c.6619-11G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102478201G>A	VUS	2 labs	178e23764a
1:184020945 TSEN15 G>A	1	184020945	184020945	G	A	TSEN15	c.56G>A	NM_001300764.2	NP_001287693.1:p.(Gly19Asp)	NC_000001.10:g.184020945G>A	(Likely) benign	2 labs	179147fb2a
17:73512884 TSEN54 T>G	17	73512884	73512884	T	G	TSEN54	c.114T>G	NM_207346.3	NP_997229.2:p.(His38Gln)	NC_000017.10:g.73512884T>G	(Likely) benign	3 labs	179456ab5a
2:179621076 TTN T>C	2	179621076	179621076	T	C	TTN	c.11127A>G	NM_001267550.2	NP_001254479.2:p.(Ser3709=)	NC_000002.11:g.179621076T>C	(Likely) benign	2 labs	17adbdf440
17:59853772 BRIP1 G>A	17	59853772	59853772	G	A	BRIP1	c.2087C>T	NM_032043.2	NP_114432.2:p.(Pro696Leu)	NC_000017.10:g.59853772G>A	VUS	2 labs	f647195cd7
11:47371324 MYBPC3 C>T	11	47371324	47371324	C	T	MYBPC3	c.654+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371324C>T	(Likely) pathogenic	3 labs	17b357e2ac
3:48605169 COL7A1 C>T	3	48605169	48605169	C	T	COL7A1	c.7957G>A	NM_000094.3	NP_000085.1:p.(Gly2653Arg)	NC_000003.11:g.48605169C>T	(Likely) pathogenic	2 labs	17bac29f43
2:44099114 ABCG8 G>C	2	44099114	44099114	G	C	ABCG8	c.965-1G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099114G>C	(Likely) pathogenic	2 labs	f69414bdfa
15:67457335 SMAD3 A>G	15	67457335	67457335	A	G	SMAD3	c.309A>G	NM_005902.4	NP_005893.1:p.(Leu103=)	NC_000015.9:g.67457335A>G	(Likely) benign	3 labs	17c9b80b08
10:75877855 VCL T>C	10	75877855	75877855	T	C	VCL	c.3333T>C	NM_014000.3	NP_054706.1:p.(Ala1111=)	NC_000010.10:g.75877855T>C	(Likely) benign	2 labs	f6bc1fed03
14:64447776 SYNE2 T>C	14	64447776	64447776	T	C	SYNE2	c.1721T>C	NM_182914.3	NP_878918.2:p.(Ile574Thr)	NC_000014.8:g.64447776T>C	(Likely) benign	2 labs	17d106c74c
11:108236070 ATM C>T	11	108236070	108236070	C	T	ATM	c.9006C>T	NM_000051.4	NP_000042.3:p.(Phe3002=)	NC_000011.9:g.108236070C>T	(Likely) benign	3 labs	17d6250c7a
17:56798207 RAD51C T>C	17	56798207	56798207	T	C	RAD51C	c.904+34T>C	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56798207T>C	(Likely) benign	2 labs	f7590a4a30
11:108225483 ATM C>T	11	108225483	108225483	C	T	ATM	c.8787-55C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225483C>T	(Likely) benign	2 labs	f79f3535d9
1:236902594 ACTN2 C>G	1	236902594	236902594	C	G	ACTN2	c.253-8C>G	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236902594C>G	(Likely) benign	4 labs	17e296011b
19:1226450 STK11 C>T	19	1226450	1226450	C	T	STK11	c.1109-3C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1226450C>T	(Likely) benign	2 labs	17ea4b000e
2:179563659 TTN GA>G	2	179563659	179563668	GA	G	TTN	c.30683-19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563668del	(Likely) benign	2 labs	f7e61b391e
7:128486357 FLNC G>A	7	128486357	128486357	G	A	FLNC	c.3967G>A	NM_001458.5	NP_001449.3:p.(Val1323Met)	NC_000007.13:g.128486357G>A	VUS	2 labs	18e8eadc59
5:180043465 FLT4 G>A	5	180043465	180043465	G	A	FLT4	c.3121C>T	NM_182925.5	NP_891555.2:p.(Arg1041Trp)	NC_000005.9:g.180043465G>A	(Likely) pathogenic	3 labs	17f1759500
6:18122506 NHLRC1 G>A	6	18122506	18122506	G	A	NHLRC1	c.332C>T	NM_198586.3	NP_940988.2:p.(Pro111Leu)	NC_000006.11:g.18122506G>A	(Likely) benign	3 labs	17f663c11a
18:3452030 TGIF1 C>T	18	3452030	3452030	C	T	TGIF1	c.-395C>T	NM_170695.5	NP_733796.3:p.?	NC_000018.9:g.3452030C>T	(Likely) benign	2 labs	f81af3e754
2:149227473 MBD5 A>T	2	149227473	149227473	A	T	MBD5	c.1961A>T	NM_018328.5	NP_060798.2:p.(Asp654Val)	NC_000002.11:g.149227473A>T	(Likely) benign	2 labs	180280aa16
14:92347775 FBLN5 G>A	14	92347775	92347775	G	A	FBLN5	c.863-13C>T	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92347775G>A	(Likely) benign	2 labs	18fc62c22b
1:17313343 ATP13A2 G>A	1	17313343	17313343	G	A	ATP13A2	c.3192C>T	NM_022089.4	NP_071372.1:p.(Ala1064=)	NC_000001.10:g.17313343G>A	(Likely) benign	4 labs	18048975da
13:51519614 RNASEH2B C>T	13	51519614	51519614	C	T	RNASEH2B	c.562C>T	NM_001142279.2	NP_001135751.1:p.(Arg188Trp)	NC_000013.10:g.51519614C>T	VUS	2 labs	180592d0e8
3:38797310 SCN10A G>A	3	38797310	38797310	G	A	SCN10A	c.1430C>T	NM_006514.4	NP_006505.4:p.(Pro477Leu)	NC_000003.11:g.38797310G>A	(Likely) benign	2 labs	f8a9b80525
17:41234451 BRCA1 G>A	17	41234451	41234451	G	A	BRCA1	c.4327C>T	NM_007294.4	NP_009225.1:p.(Arg1443Ter)	NC_000017.10:g.41234451G>A	(Likely) pathogenic	7 labs	1809b14575
6:157222554 ARID1B G>T	6	157222554	157222554	G	T	ARID1B	c.2070G>T	NM_001371656.1	NP_001358585.1:p.(Gln690His)	NC_000006.11:g.157222554G>T	VUS	2 labs	1817feaee8
8:6479155 MCPH1 C>T	8	6479155	6479155	C	T	MCPH1	c.2395C>T	NM_024596.5	NP_078872.3:p.(Pro799Ser)	NC_000008.10:g.6479155C>T	(Likely) benign	2 labs	181c46c315
11:108225661 ATM A>G	11	108225661	108225661	A	G	ATM	c.8850+60A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225661A>G	(Likely) benign	2 labs	f91a72c199
22:42575644 TCF20 C>T	22	42575644	42575644	C	T	TCF20	c.5720G>A	NM_005650.4	NP_005641.1:p.(Arg1907Gln)	NC_000022.10:g.42575644C>T	VUS	2 labs	182169f744
2:220285661 DES G>A	2	220285661	220285661	G	A	DES	c.1009G>A	NM_001927.4	NP_001918.3:p.(Ala337Thr)	NC_000002.11:g.220285661G>A	VUS	2 labs	182540adc8
10:88441481 LDB3 G>A	10	88441481	88441481	G	A	LDB3	c.321+1567G>A	NM_001080116.1	NP_001073585.1:p.?	NC_000010.10:g.88441481G>A	VUS	2 labs	182817c306
8:17927294 ASAH1 C>T	8	17927294	17927294	C	T	ASAH1	c.303+7G>A	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17927294C>T	(Likely) benign	2 labs	1832f3b674
X:53228148 KDM5C C>A	X	53228148	53228148	C	A	KDM5C	c.2243+11G>T	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53228148C>A	(Likely) benign	2 labs	1837b1bd44
2:179647753 TTN G>A	2	179647753	179647753	G	A	TTN	c.2880C>T	NM_001267550.2	NP_001254479.2:p.(Val960=)	NC_000002.11:g.179647753G>A	(Likely) benign	2 labs	f988c02320
2:73717567 ALMS1 G>T	2	73717567	73717567	G	T	ALMS1	c.8484G>T	NM_015120.4	NP_055935.4:p.(Arg2828Ser)	NC_000002.11:g.73717567G>T	(Likely) benign	2 labs	18455041ac
15:73617801 HCN4 G>A	15	73617801	73617801	G	A	HCN4	c.1591-16C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617801G>A	(Likely) benign	2 labs	18479b8b95
4:1808870 FGFR3 G>A	4	1808870	1808870	G	A	FGFR3	c.2302G>A	NM_000142.5	NP_000133.1:p.(Glu768Lys)	NC_000004.11:g.1808870G>A	VUS	2 labs	1856db0bbc
7:87049345 ABCB4 C>T	7	87049345	87049345	C	T	ABCB4	c.2363G>A	NM_018849.3	NP_061337.1:p.(Arg788Gln)	NC_000007.13:g.87049345C>T	(Likely) benign	3 labs	185828ef32
5:176836532 F12 A>G	5	176836532	176836532	A	G	F12	c.-4T>C	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176836532A>G	(Likely) benign	2 labs	1859975cde
9:131395571 SPTAN1 G>A	9	131395571	131395571	G	A	SPTAN1	c.7392G>A	NM_001130438.3	NP_001123910.1:p.(Ala2464=)	NC_000009.11:g.131395571G>A	(Likely) benign	2 labs	185a3e265d
14:88883138 SPATA7 C>T	14	88883138	88883138	C	T	SPATA7	c.322C>T	NM_018418.5	NP_060888.2:p.(Arg108Ter)	NC_000014.8:g.88883138C>T	(Likely) pathogenic	2 labs	f9f4f010cb
2:27151181 DPYSL5 G>A	2	27151181	27151181	G	A	DPYSL5	c.659G>A	NM_020134.4	NP_064519.2:p.(Arg220His)	NC_000002.11:g.27151181G>A	(Likely) benign	2 labs	185ba47f7f
2:215645291 BARD1 G>C	2	215645291	215645291	G	C	BARD1	c.1307C>G	NM_000465.4	NP_000456.2:p.(Ser436Cys)	NC_000002.11:g.215645291G>C	VUS	4 labs	18636cbbfa
X:153296399 MECP2 G>A	X	153296399	153296399	G	A	MECP2	c.880C>T	NM_004992.3	NP_004983.1:p.(Arg294Ter)	NC_000023.10:g.153296399G>A	(Likely) pathogenic	3 labs	18689566c2
7:193245 FAM20C G>T	7	193245	193245	G	T	FAM20C	c.46G>T	NM_020223.4	NP_064608.2:p.(Val16Leu)	NC_000007.13:g.193245G>T	(Likely) benign	2 labs	194ad71e93
14:77493809 IRF2BPL CTGCTGT>C	14	77493809	77493830	CTGCTGT	C	IRF2BPL	c.321_326del	NM_024496.4	NP_078772.1:p.(Gln126_Gln127del)	NC_000014.8:g.77493825_77493830del	(Likely) benign	2 labs	1884cb2eb5
22:51137249 SHANK3 T>C	22	51137249	51137249	T	C	SHANK3	c.1837+18T>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51137249T>C	(Likely) benign	2 labs	188ac71a65
10:112541655 RBM20 A>G	10	112541655	112541655	A	G	RBM20	c.1275+13A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112541655A>G	(Likely) benign	3 labs	18a228ef8b
1:11188628 MTOR C>T	1	11188628	11188628	C	T	MTOR	c.5812-19G>A	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11188628C>T	(Likely) benign	2 labs	195292025d
17:17697098 RAI1 AGC>A	17	17697098	17697100	AGC	A	RAI1	c.837_838del	NM_030665.4	NP_109590.3:p.(Gln280AlafsTer108)	NC_000017.10:g.17697099_17697100del	(Likely) benign	2 labs	18b4b2fa00
17:73513677 TSEN54 A>C	17	73513677	73513677	A	C	TSEN54	c.409A>C	NM_207346.3	NP_997229.2:p.(Ile137Leu)	NC_000017.10:g.73513677A>C	(Likely) benign	3 labs	18b69aa57d
16:2152392 PKD1 A>G	16	2152392	2152392	A	G	PKD1	c.9191T>C	NM_001009944.3	NP_001009944.3:p.(Phe3064Ser)	NC_000016.9:g.2152392A>G	VUS	2 labs	18bb311d71
11:73850838 C2CD3 G>T	11	73850838	73850838	G	T	C2CD3	c.519C>A	NM_015531.6	NP_056346.3:p.(Tyr173Ter)	NC_000011.9:g.73850838G>T	(Likely) pathogenic	2 labs	18bf6f16a7
3:38783845 SCN10A G>A	3	38783845	38783845	G	A	SCN10A	c.2043C>T	NM_006514.4	NP_006505.4:p.(Phe681=)	NC_000003.11:g.38783845G>A	(Likely) benign	2 labs	fbe81422ca
11:47355233 MYBPC3 C>G	11	47355233	47355233	C	G	MYBPC3	c.3065G>C	NM_000256.3	NP_000247.2:p.(Arg1022Pro)	NC_000011.9:g.47355233C>G	(Likely) pathogenic	5 labs	18c6c5f212
8:75262798 GDAP1 G>C	8	75262798	75262798	G	C	GDAP1	c.102=	NM_018972.4	NP_061845.2:p.(Ser34=)	NC_000008.10:g.75262798G>C	(Likely) benign	2 labs	18cb7452b1
8:143957183 CYP11B1 G>A	8	143957183	143957183	G	A	CYP11B1	c.1066C>T	NM_000497.4	NP_000488.3:p.(Gln356Ter)	NC_000008.10:g.143957183G>A	(Likely) pathogenic	4 labs	18cec58913
1:241665790 FH C>T	1	241665790	241665790	C	T	FH	c.1189G>A	NM_000143.4	NP_000134.2:p.(Gly397Arg)	NC_000001.10:g.241665790C>T	(Likely) pathogenic	2 labs	18d5afa6f8
11:119148573 CBL G>T	11	119148573	119148573	G	T	CBL	c.1095+19G>T	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119148573G>T	(Likely) benign	2 labs	18d821f0b2
1:1961469 GABRD C>A	1	1961469	1961469	C	A	GABRD	c.1107C>A	NM_000815.5	NP_000806.2:p.(Gly369=)	NC_000001.10:g.1961469C>A	(Likely) benign	2 labs	18d9358b1d
3:37059153 MLH1 C>T	3	37059153	37059153	C	T	MLH1	c.884+63C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37059153C>T	(Likely) benign	2 labs	fcb11641da
2:47690276 MSH2 G>GT	2	47690276	47690277	G	GT	MSH2	c.1494dup	NM_000251.3	NP_000242.1:p.(Ala499CysfsTer14)	NC_000002.11:g.47690277dup	(Likely) pathogenic	2 labs	fce05b406c
22:19753951 TBX1 G>A	22	19753951	19753951	G	A	TBX1	c.1049G>A	NM_080647.1	NP_542378.1:p.(Gly350Asp)	NC_000022.10:g.19753951G>A	(Likely) benign	2 labs	18dbb59a91
9:131360750 SPTAN1 C>T	9	131360750	131360750	C	T	SPTAN1	c.3486C>T	NM_001130438.3	NP_001123910.1:p.(Leu1162=)	NC_000009.11:g.131360750C>T	(Likely) benign	2 labs	18e41beca9
3:129252455 RHO G>A	3	129252455	129252455	G	A	RHO	c.941G>A	NM_000539.3	NP_000530.1:p.(Arg314Gln)	NC_000003.11:g.129252455G>A	VUS	2 labs	fd559f3c43
3:136002809 PCCB T>C	3	136002809	136002809	T	C	PCCB	c.714+20T>C	NM_001178014.2	NP_001171485.1:p.?	NC_000003.11:g.136002809T>C	(Likely) benign	2 labs	fd78ce6428
X:47061018 UBA1 C>G	X	47061018	47061018	C	G	UBA1	c.811+9C>G	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47061018C>G	(Likely) benign	3 labs	1902799db3
15:85402431 ALPK3 G>A	15	85402431	85402431	G	A	ALPK3	c.3818-43G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402431G>A	(Likely) benign	2 labs	1911564cc3
2:179431286 TTN C>A	2	179431286	179431286	C	A	TTN	c.79573G>T	NM_001267550.2	NP_001254479.2:p.(Glu26525Ter)	NC_000002.11:g.179431286C>A	(Likely) pathogenic	2 labs	19196a9907
11:64572560 MEN1 C>T	11	64572560	64572560	C	T	MEN1	c.1311G>A	NM_130803.2	NP_570715.1:p.(Leu437=)	NC_000011.9:g.64572560C>T	(Likely) benign	5 labs	191ace8f2d
9:738509 KANK1 G>A	9	738509	738509	G	A	KANK1	c.3553+5G>A	NM_015158.4	NP_055973.2:p.?	NC_000009.11:g.738509G>A	(Likely) benign	2 labs	198d33e180
1:201334389 TNNT2 G>A	1	201334389	201334389	G	A	TNNT2	c.311C>T	NM_001276347.2	NP_001263276.1:p.(Ala104Val)	NC_000001.10:g.201334389G>A	VUS	2 labs	fe24ffaa3d
11:108218077 ATM G>A	11	108218077	108218077	G	A	ATM	c.8656G>A	NM_000051.3	NP_000042.3:p.(Val2886Ile)	NC_000011.9:g.108218077G>A	VUS	2 labs	fe55388447
6:7575508 DSP T>G	6	7575508	7575508	T	G	DSP	c.2437-20T>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7575508T>G	(Likely) benign	2 labs	198e7968c1
4:151773593 LRBA G>C	4	151773593	151773593	G	C	LRBA	c.3269C>G	NM_001199282.2	NP_001186211.2:p.(Ala1090Gly)	NC_000004.11:g.151773593G>C	(Likely) benign	2 labs	19270727cb
16:23625463 PALB2 A>T	16	23625463	23625463	A	T	PALB2	c.3114-51T>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23625463A>T	(Likely) benign	2 labs	febcb0418e
11:65325325 LTBP3 CCAG>C	11	65325325	65325356	CCAG	C	LTBP3	c.103_105del	NM_001130144.3	NP_001123616.1:p.(Leu35del)	NC_000011.9:g.65325354_65325356del	(Likely) benign	2 labs	19a1d7b30c
10:112541528 RBM20 G>A	10	112541528	112541528	G	A	RBM20	c.1161G>A	NM_001134363.3	NP_001127835.2:p.(Ala387=)	NC_000010.10:g.112541528G>A	(Likely) benign	2 labs	fec0864cfc
11:47354497 MYBPC3 G>A	11	47354497	47354497	G	A	MYBPC3	c.3358C>T	NM_000256.3	NP_000247.2:p.(Arg1120Cys)	NC_000011.9:g.47354497G>A	VUS	3 labs	194458c5e9
3:58128383 FLNB G>A	3	58128383	58128383	G	A	FLNB	c.5188G>A	NM_001457.4	NP_001448.2:p.(Glu1730Lys)	NC_000003.11:g.58128383G>A	VUS	2 labs	19482e039c
19:11227602 LDLR C>T	19	11227602	11227602	C	T	LDLR	c.1773C>T	NM_000527.5	NP_000518.1:p.(Asn591=)	NC_000019.9:g.11227602C>T	(Likely) benign	3 labs	195523a642
19:13007152 GCDH C>T	19	13007152	13007152	C	T	GCDH	c.769C>T	NM_000159.4	NP_000150.1:p.(Arg257Trp)	NC_000019.9:g.13007152C>T	(Likely) pathogenic	2 labs	19591fd7db
5:112175248 APC T>C	5	112175248	112175248	T	C	APC				NC_000005.9:g.112175248T>C	(Likely) benign	2 labs	19b17b3c41
7:117120141 CFTR G>C	7	117120141	117120141	G	C	CFTR	c.-8G>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117120141G>C	(Likely) benign	3 labs	195ad7b309
4:17513582 QDPR G>A	4	17513582	17513582	G	A	QDPR	c.96C>T	NM_000320.3	NP_000311.2:p.(Ala32=)	NC_000004.11:g.17513582G>A	(Likely) benign	2 labs	195b86648f
7:6048743 PMS2 C>G	7	6048743	6048743	C	G	PMS2				NC_000007.13:g.6048743C>G	(Likely) benign	2 labs	ffd226e540
X:153197863 NAA10 G>A	X	153197863	153197863	G	A	NAA10	c.247C>T	NM_003491.4	NP_003482.1:p.(Arg83Cys)	NC_000023.10:g.153197863G>A	(Likely) pathogenic	4 labs	195d5e50d2
10:96039597 PLCE1 G>C	10	96039597	96039597	G	C	PLCE1	c.4724G>C	NM_016341.4	NP_057425.3:p.(Arg1575Pro)	NC_000010.10:g.96039597G>C	(Likely) benign	2 labs	195db9c01c
14:23884227 MYH7 G>A	14	23884227	23884227	G	A	MYH7	c.5536C>T	NM_000257.4	NP_000248.2:p.(Arg1846Cys)	NC_000014.8:g.23884227G>A	VUS	2 labs	0329073a17
3:172163093 GHSR G>T	3	172163093	172163093	G	T	GHSR	c.959C>A	NM_198407.2	NP_940799.1:p.(Pro320His)	NC_000003.11:g.172163093G>T	VUS	2 labs	03359c7349
2:220078652 ABCB6 C>T	2	220078652	220078652	C	T	ABCB6	c.1474G>A	NM_005689.4	NP_005680.1:p.(Ala492Thr)	NC_000002.11:g.220078652C>T	(Likely) benign	2 labs	035662e4a7
13:110831761 COL4A1 G>C	13	110831761	110831761	G	C	COL4A1	c.2201C>G	NM_001845.6	NP_001836.3:p.(Pro734Arg)	NC_000013.10:g.110831761G>C	VUS	2 labs	036d0bae9b
4:166960481 TLL1 C>T	4	166960481	166960481	C	T	TLL1	c.1159-10C>T	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166960481C>T	(Likely) benign	2 labs	0374a361a7
2:166621413 GALNT3 C>T	2	166621413	166621413	C	T	GALNT3	c.669G>A	NM_004482.4	NP_004473.2:p.(Val223=)	NC_000002.11:g.166621413C>T	(Likely) benign	2 labs	038abd4c4f
12:49423176 KMT2D G>A	12	49423176	49423176	G	A	KMT2D	c.14075+8C>T	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49423176G>A	(Likely) benign	2 labs	03935d1952
7:128490111 FLNC G>A	7	128490111	128490111	G	A	FLNC	c.5281G>A	NM_001458.5	NP_001449.3:p.(Ala1761Thr)	NC_000007.13:g.128490111G>A	(Likely) benign	2 labs	0394fe035e
11:108155039 ATM G>A	11	108155039	108155039	G	A	ATM	c.3832G>A	NM_000051.4	NP_000042.3:p.(Asp1278Asn)	NC_000011.9:g.108155039G>A	VUS	2 labs	03a2216f37
19:39052023 RYR1 G>A	19	39052023	39052023	G	A	RYR1	c.12553G>A	NM_000540.3	NP_000531.2:p.(Ala4185Thr)	NC_000019.9:g.39052023G>A	VUS	2 labs	03f162af48
X:53349887 IQSEC2 G>A	X	53349887	53349887	G	A	IQSEC2	c.435C>T	NM_001111125.3	NP_001104595.1:p.(Thr145=)	NC_000023.10:g.53349887G>A	(Likely) benign	3 labs	196fb7c650
11:108216559 ATM G>A	11	108216559	108216559	G	A	ATM	c.8508G>A	NM_000051.4	NP_000042.3:p.(Met2836Ile)	NC_000011.9:g.108216559G>A	VUS	2 labs	0426d4e0a3
21:43805656 TMPRSS3 T>C	21	43805656	43805656	T	C	TMPRSS3	c.447-13A>G	NM_024022.4	NP_076927.1:p.?	NC_000021.8:g.43805656T>C	(Likely) benign	2 labs	1974a5e920
19:13008607 GCDH G>T	19	13008607	13008607	G	T	GCDH	c.1173G>T	NM_000159.4	NP_000150.1:p.(Gly391=)	NC_000019.9:g.13008607G>T	(Likely) benign	2 labs	1976249125
1:196918792 CFHR2 C>T	1	196918792	196918792	C	T	CFHR2	c.253+13C>T	NM_005666.4	NP_005657.1:p.?	NC_000001.10:g.196918792C>T	(Likely) benign	2 labs	19dbe85783
2:179446720 TTN A>G	2	179446720	179446720	A	G	TTN	c.66376T>C	NM_001267550.2	NP_001254479.2:p.(Tyr22126His)	NC_000002.11:g.179446720A>G	VUS	2 labs	04ff24b373
7:6013086 PMS2 G>C	7	6013086	6013086	G	C	PMS2	c.2533C>G	NM_000535.7	NP_000526.2:p.(His845Asp)	NC_000007.13:g.6013086G>C	VUS	2 labs	05001635e0
10:75397607 MYOZ1 C>T	10	75397607	75397607	C	T	MYOZ1	c.147G>A	NM_021245.4	NP_067068.1:p.(Leu49=)	NC_000010.10:g.75397607C>T	(Likely) benign	3 labs	197f7a4818
X:17705857 NHS T>C	X	17705857	17705857	T	C	NHS	c.566-5T>C	NM_001291867.2	NP_001278796.1:p.?	NC_000023.10:g.17705857T>C	(Likely) benign	2 labs	05224fb23f
22:31342360 MORC2 G>A	22	31342360	31342360	G	A	MORC2	c.394C>T	NM_001303256.3	NP_001290185.1:p.(Arg132Cys)	NC_000022.10:g.31342360G>A	(Likely) pathogenic	2 labs	051f4e43e3
6:33131501 COL11A2 G>A	6	33131501	33131501	G	A	COL11A2	c.5165C>T	NM_080680.3	NP_542411.2:p.(Pro1722Leu)	NC_000006.11:g.33131501G>A	(Likely) benign	2 labs	05459c9f2d
3:197678143 RPL35A A>G	3	197678143	197678143	A	G	RPL35A	c.125A>G	NM_000996.4	NP_000987.2:p.(Tyr42Cys)	NC_000003.11:g.197678143A>G	(Likely) pathogenic	2 labs	05a9ce5aff
8:86377494 CA2 C>A	8	86377494	86377494	C	A	CA2	c.35-7C>A	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86377494C>A	(Likely) benign	2 labs	05d02e1e85
15:73615304 HCN4 G>A	15	73615304	73615304	G	A	HCN4	c.3130C>T	NM_005477.3	NP_005468.1:p.(Arg1044Trp)	NC_000015.9:g.73615304G>A	VUS	2 labs	199096e912
3:30686414 TGFBR2 A>G	3	30686414	30686414	A	G	TGFBR2	c.338+7A>G	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30686414A>G	(Likely) benign	4 labs	199235d8b4
17:41216075 BRCA1 T>C	17	41216075	41216075	T	C	BRCA1	c.5075-107A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41216075T>C	(Likely) benign	2 labs	19f839b7b0
2:138771444 HNMT T>C	2	138771444	138771444	T	C	HNMT	c.623T>C	NM_006895.3	NP_008826.1:p.(Leu208Pro)	NC_000002.11:g.138771444T>C	(Likely) pathogenic	2 labs	065c75a94b
4:88929455 PKD2 G>T	4	88929455	88929455	G	T	PKD2	c.570G>T	NM_000297.4	NP_000288.1:p.(Ala190=)	NC_000004.11:g.88929455G>T	(Likely) benign	2 labs	066353e4ea
12:13722951 GRIN2B C>A	12	13722951	13722951	C	A	GRIN2B	c.2172G>T	NM_000834.5	NP_000825.2:p.(Gly724=)	NC_000012.11:g.13722951C>A	(Likely) benign	3 labs	199402ba80
17:36099649 HNF1B G>A	17	36099649	36099649	G	A	HNF1B	c.345-19C>T	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36099649G>A	(Likely) benign	2 labs	0699178a43
2:167300015 SCN7A T>A	2	167300015	167300015	T	A	SCN7A	c.1798A>T	NM_002976.4	NP_002967.2:p.(Met600Leu)	NC_000002.11:g.167300015T>A	(Likely) benign	2 labs	069bc0973d
1:43890058 SZT2 C>T	1	43890058	43890058	C	T	SZT2	c.2426C>T	NM_015284.4	NP_056099.3:p.(Ala809Val)	NC_000001.10:g.43890058C>T	VUS	2 labs	1996589bc4
5:176815124 SLC34A1 T>C	5	176815124	176815124	T	C	SLC34A1	c.774T>C	NM_003052.5	NP_003043.3:p.(His258=)	NC_000005.9:g.176815124T>C	(Likely) benign	2 labs	199d1c6181
18:43459147 EPG5 A>G	18	43459147	43459147	A	G	EPG5	c.5700T>C	NM_020964.3	NP_066015.2:p.(Phe1900=)	NC_000018.9:g.43459147A>G	(Likely) benign	2 labs	06dce64ea9
3:178922374 PIK3CA C>G	3	178922374	178922374	C	G	PIK3CA	c.1143C>G	NM_006218.2	NP_006209.2:p.(Pro381=)	NC_000003.11:g.178922374C>G	(Likely) benign	2 labs	07006d2acb
6:157150496 ARID1B A>G	6	157150496	157150496	A	G	ARID1B	c.1927A>G	NM_001374828.1	NP_001361757.1:p.(Ile643Val)	NC_000006.11:g.157150496A>G	(Likely) benign	2 labs	0723ca41c4
19:38954130 RYR1 C>T	19	38954130	38954130	C	T	RYR1	c.2645C>T	NM_000540.3	NP_000531.2:p.(Ala882Val)	NC_000019.9:g.38954130C>T	VUS	2 labs	0731a226a8
2:179517965 TTN C>G	2	179517965	179517965	C	G	TTN	c.38791G>C	NM_001267550.1	NP_001254479.1:p.(Val12931Leu)	NC_000002.11:g.179517965C>G	VUS	2 labs	0752be67ca
3:37067308 MLH1 C>T	3	37067308	37067308	C	T	MLH1	c.1219C>T	NM_000249.3	NP_000240.1:p.(Gln407Ter)	NC_000003.11:g.37067308C>T	(Likely) pathogenic	2 labs	1a0b8c9728
10:89717720 PTEN G>A	10	89717720	89717720	G	A	PTEN	c.745G>A	NM_000314.8	NP_000305.3:p.(Val249Met)	NC_000010.10:g.89717720G>A	VUS	2 labs	0769f5bce1
19:50369666 PNKP G>A	19	50369666	50369666	G	A	PNKP	c.188C>T	NM_007254.4	NP_009185.2:p.(Ala63Val)	NC_000019.9:g.50369666G>A	(Likely) benign	3 labs	19a7a024cb
4:88959517 PKD2 C>T	4	88959517	88959517	C	T	PKD2	c.958C>T	NM_000297.4	NP_000288.1:p.(Arg320Ter)	NC_000004.11:g.88959517C>T	(Likely) pathogenic	3 labs	079fe79f6b
2:228163453 COL4A3 C>A	2	228163453	228163453	C	A	COL4A3	c.3807C>A	NM_000091.4	NP_000082.2:p.(Asp1269Glu)	NC_000002.11:g.228163453C>A	(Likely) benign	3 labs	07d0d7a145
X:21990015 SMS C>T	X	21990015	21990015	C	T	SMS	c.171C>T	NM_004595.5	NP_004586.2:p.(Ser57=)	NC_000023.10:g.21990015C>T	(Likely) benign	2 labs	07e1d5d518
22:36702608 MYH9 G>A	22	36702608	36702608	G	A	MYH9	c.1889C>T	NM_002473.6	NP_002464.1:p.(Thr630Ile)	NC_000022.10:g.36702608G>A	VUS	2 labs	07f2760666
4:106359158 PPA2 C>T	4	106359158	106359158	C	T	PPA2	c.477G>A	NM_176869.3	NP_789845.1:p.(Thr159=)	NC_000004.11:g.106359158C>T	(Likely) benign	2 labs	07f97efa6a
14:64633984 SYNE2 G>A	14	64633984	64633984	G	A	SYNE2	c.16639G>A	NM_182914.2	NP_878918.2:p.(Asp5547Asn)	NC_000014.8:g.64633984G>A	(Likely) benign	2 labs	080153f9a9
1:92763091 GLMN CA>C	1	92763091	92763105	CA	C	GLMN	c.40-6del	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92763105del	(Likely) benign	2 labs	0802747a94
16:23646191 PALB2 T>C	16	23646191	23646191	T	C	PALB2	c.1676A>G	NM_024675.4	NP_078951.2:p.(Gln559Arg)	NC_000016.9:g.23646191T>C	(Likely) benign	4 labs	19ad1d497e
9:6554754 GLDC C>T	9	6554754	6554754	C	T	GLDC	c.2230G>A	NM_000170.3	NP_000161.2:p.(Gly744Arg)	NC_000009.11:g.6554754C>T	VUS	2 labs	0824938141
20:31381416 DNMT3B T>C	20	31381416	31381416	T	C	DNMT3B	c.1126+15T>C	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31381416T>C	(Likely) benign	2 labs	082a8ced2e
9:139259592 CARD9 C>G	9	139259592	139259592	C	G	CARD9	c.1434+1G>C	NM_052813.5	NP_434700.2:p.?	NC_000009.11:g.139259592C>G	VUS	3 labs	19b2e3a42a
10:76789861 KAT6B C>T	10	76789861	76789861	C	T	KAT6B	c.5279C>T	NM_012330.4	NP_036462.2:p.(Pro1760Leu)	NC_000010.10:g.76789861C>T	VUS	2 labs	08cc70368b
11:17519742 USH1C C>G	11	17519742	17519742	C	G	USH1C	c.2457G>C	NM_153676.4	NP_710142.1:p.(Glu819Asp)	NC_000011.9:g.17519742C>G	(Likely) benign	2 labs	19b5a3624d
14:67390981 GPHN A>G	14	67390981	67390981	A	G	GPHN	c.800A>G	NM_020806.5	NP_065857.1:p.(Asn267Ser)	NC_000014.8:g.67390981A>G	(Likely) benign	3 labs	19b8c52bee
7:73470782 ELN C>T	7	73470782	73470782	C	T	ELN	c.1315+17C>T	NM_001278939.2	NP_001265868.1:p.?	NC_000007.13:g.73470782C>T	(Likely) benign	2 labs	19bc95bff0
5:90445826 ADGRV1 CT>C	5	90445826	90445842	CT	C	ADGRV1	c.18433-5del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445842del	(Likely) benign	2 labs	1a2f8f580f
X:54836239 MAGED2 A>G	X	54836239	54836239	A	G	MAGED2	c.130A>G	NM_177433.3	NP_803182.1:p.(Lys44Glu)	NC_000023.10:g.54836239A>G	(Likely) benign	2 labs	09698cb682
X:150908168 CNGA2 G>T	X	150908168	150908168	G	T	CNGA2	c.338G>T	NM_005140.3	NP_005131.1:p.(Gly113Val)	NC_000023.10:g.150908168G>T	(Likely) benign	2 labs	098c02920c
5:254505 SDHA C>G	5	254505	254505	C	G	SDHA	c.1795-3C>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.254505C>G	(Likely) pathogenic	2 labs	097e9dc34b
6:162622304 PRKN A>G	6	162622304	162622304	A	G	PRKN	c.413-20T>C	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162622304A>G	(Likely) benign	3 labs	19c6bc7510
6:51512889 PKHD1 G>A	6	51512889	51512889	G	A	PKHD1	c.11338C>T	NM_138694.4	NP_619639.3:p.(Pro3780Ser)	NC_000006.11:g.51512889G>A	(Likely) benign	2 labs	09a6a19138
2:228176554 COL4A3 C>T	2	228176554	228176554	C	T	COL4A3	c.4981C>T	NM_000091.5	NP_000082.2:p.(Arg1661Cys)	NC_000002.11:g.228176554C>T	(Likely) pathogenic	2 labs	09b932cb1e
5:147506593 SPINK5 A>G	5	147506593	147506593	A	G	SPINK5	c.3005A>G	NM_001127698.2	NP_001121170.1:p.(His1002Arg)	NC_000005.9:g.147506593A>G	(Likely) benign	2 labs	09c4b301d5
15:42691723 CAPN3 A>G	15	42691723	42691723	A	G	CAPN3	c.1227A>G	NM_000070.3	NP_000061.1:p.(Thr409=)	NC_000015.9:g.42691723A>G	(Likely) benign	3 labs	09c90d17ff
6:3155143 TUBB2A C>T	6	3155143	3155143	C	T	TUBB2A	c.292G>A	NM_001069.3	NP_001060.1:p.(Gly98Arg)	NC_000006.11:g.3155143C>T	(Likely) pathogenic	2 labs	09dfe3b4f1
10:27355406 ANKRD26 TAGA>T	10	27355406	27355410	TAGA	T	ANKRD26	c.1269+7_1269+9del	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27355408_27355410del	(Likely) benign	2 labs	09fad6472d
4:123664204 BBS12 G>A	4	123664204	123664204	G	A	BBS12	c.1157G>A	NM_001178007.2	NP_001171478.1:p.(Arg386Gln)	NC_000004.11:g.123664204G>A	(Likely) benign	3 labs	19c85cd488
X:154065972 F8 G>A	X	154065972	154065972	G	A	F8	c.6956C>T	NM_000132.3	NP_000123.1:p.(Pro2319Leu)	NC_000023.10:g.154065972G>A	(Likely) pathogenic	2 labs	1a41bf87f8
16:81957121 PLCG2 A>G	16	81957121	81957121	A	G	PLCG2	c.2339A>G	NM_002661.5	NP_002652.2:p.(Tyr780Cys)	NC_000016.9:g.81957121A>G	VUS	2 labs	0a21139f24
1:201334761 TNNT2 C>T	1	201334761	201334761	C	T	TNNT2	c.271G>A	NM_000364.4	NP_000355.2:p.(Asp91Asn)	NC_000001.10:g.201334761C>T	VUS	2 labs	19ce44fcea
2:5833884 SOX11 C>CCAGCAGCAGCGG	2	5833884	5833915	C	CCAGCAGCAGCGG	SOX11	c.1051_1062dup	NM_003108.4	NP_003099.1:p.(Ser351_Ser354dup)	NC_000002.11:g.5833904_5833915dup	(Likely) benign	2 labs	0a5174d58a
7:158672405 DYNC2I1 C>G	7	158672405	158672405	C	G	DYNC2I1	c.604C>G	NM_018051.5	NP_060521.4:p.(Leu202Val)	NC_000007.13:g.158672405C>G	(Likely) benign	2 labs	0a5f4b9b52
1:152281724 FLG G>T	1	152281724	152281724	G	T	FLG	c.5638C>A	NM_002016.2	NP_002007.1:p.(His1880Asn)	NC_000001.10:g.152281724G>T	(Likely) benign	2 labs	0aa6697b4e
5:137206489 MYOT A>G	5	137206489	137206489	A	G	MYOT	c.149A>G	NM_006790.2	NP_006781.1:p.(Gln50Arg)	NC_000005.9:g.137206489A>G	(Likely) benign	2 labs	0ab1387f5e
X:47486695 CFP G>A	X	47486695	47486695	G	A	CFP	c.611C>T	NM_001145252.3	NP_001138724.1:p.(Pro204Leu)	NC_000023.10:g.47486695G>A	(Likely) benign	2 labs	0ac877f858
16:88779714 CTU2 C>T	16	88779714	88779714	C	T	CTU2	c.738-6C>T	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88779714C>T	(Likely) benign	2 labs	19e6b81a4c
6:42162372 GUCA1B G>A	6	42162372	42162372	G	A	GUCA1B	c.187C>T	NM_002098.6	NP_002089.4:p.(Arg63Ter)	NC_000006.11:g.42162372G>A	VUS	2 labs	0afbd88190
13:32912031 BRCA2 A>G	13	32912031	32912031	A	G	BRCA2	c.3539A>G	NM_000059.4	NP_000050.3:p.(Lys1180Arg)	NC_000013.10:g.32912031A>G	(Likely) benign	2 labs	0b1ab5db86
10:294294 ZMYND11 G>A	10	294294	294294	G	A	ZMYND11	c.1246G>A	NM_006624.7	NP_006615.2:p.(Glu416Lys)	NC_000010.10:g.294294G>A	VUS	2 labs	19e7f6f03a
16:67693916 ACD G>A	16	67693916	67693916	G	A	ACD	c.132C>T	NM_001082486.2	NP_001075955.2:p.(Gly44=)	NC_000016.9:g.67693916G>A	(Likely) benign	2 labs	0b36ae86ec
1:76198554 ACADM T>C	1	76198554	76198554	T	C	ACADM	c.233T>C	NM_000016.6	NP_000007.1:p.(Ile78Thr)	NC_000001.10:g.76198554T>C	(Likely) pathogenic	2 labs	19ee49b59a
2:48033908 MSH6 T>A	2	48033908	48033908	T	A	MSH6	c.4002-10T>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033908T>A	(Likely) benign	4 labs	0baf283217
16:23392087 SCNN1B G>A	16	23392087	23392087	G	A	SCNN1B	c.1888G>A	NM_000336.3	NP_000327.2:p.(Val630Ile)	NC_000016.9:g.23392087G>A	(Likely) benign	2 labs	0bba9a0ec6
1:196799691 CFHR1 G>A	1	196799691	196799691	G	A	CFHR1	c.669G>A	NM_002113.2	NP_002104.2:p.(Pro223=)	NC_000001.10:g.196799691G>A	(Likely) benign	2 labs	1a65eaa2d3
4:6303033 WFS1 C>G	4	6303033	6303033	C	G	WFS1	c.1511C>G	NM_006005.3	NP_005996.2:p.(Pro504Arg)	NC_000004.11:g.6303033C>G	(Likely) pathogenic	2 labs	0be3b570d6
1:235628968 B3GALNT2 T>TAA	1	235628968	235628972	T	TAA	B3GALNT2	c.824_825dup	NM_152490.5	NP_689703.1:p.(Ile276LeufsTer26)	NC_000001.10:g.235628971_235628972dup	(Likely) pathogenic	4 labs	19fa1998bd
15:100821467 ADAMTS17 G>A	15	100821467	100821467	G	A	ADAMTS17	c.756C>T	NM_139057.4	NP_620688.2:p.(Ala252=)	NC_000015.9:g.100821467G>A	(Likely) benign	2 labs	19fbe31767
14:68251934 ZFYVE26 G>A	14	68251934	68251934	G	A	ZFYVE26	c.3365C>T	NM_015346.4	NP_056161.2:p.(Ala1122Val)	NC_000014.8:g.68251934G>A	(Likely) benign	2 labs	0c30713f1f
3:46621450 CRIPTO G>T	3	46621450	46621450	G	T	CRIPTO	c.348G>T	NM_003212.4	NP_003203.1:p.(Gly116=)	NC_000003.11:g.46621450G>T	(Likely) benign	2 labs	0c324a03a3
22:28194933 MN1 T>TTGC	22	28194933	28194962	T	TTGC	MN1	c.1596_1598dup	NM_002430.3	NP_002421.3:p.(Gln550dup)	NC_000022.10:g.28194960_28194962dup	(Likely) benign	2 labs	0c36bb9c68
7:6026906 PMS2 C>T	7	6026906	6026906	C	T	PMS2	c.1490G>A	NM_000535.7	NP_000526.2:p.(Gly497Asp)	NC_000007.13:g.6026906C>T	(Likely) benign	2 labs	0c57026222
9:94712171 ROR2 C>T	9	94712171	94712171	C	T	ROR2	c.75G>A	NM_004560.4	NP_004551.2:p.(Leu25=)	NC_000009.11:g.94712171C>T	(Likely) benign	2 labs	0c70b48055
X:136649012 ZIC3 T>C	X	136649012	136649012	T	C	ZIC3	c.162T>C	NM_003413.4	NP_003404.1:p.(Ala54=)	NC_000023.10:g.136649012T>C	(Likely) benign	2 labs	0c99de1a74
2:73678899 ALMS1 A>G	2	73678899	73678899	A	G	ALMS1	c.5248A>G	NM_015120.4	NP_055935.4:p.(Thr1750Ala)	NC_000002.11:g.73678899A>G	(Likely) benign	2 labs	1a6fb8f400
5:112178268 APC G>A	5	112178268	112178268	G	A	APC	c.6977G>A	NM_000038.6	NP_000029.2:p.(Arg2326Gln)	NC_000005.9:g.112178268G>A	VUS	2 labs	0d08fcc756
X:32482803 DMD G>T	X	32482803	32482803	G	T	DMD	c.3176C>A	NM_004006.3	NP_003997.2:p.(Thr1059Asn)	NC_000023.10:g.32482803G>T	VUS	2 labs	0d0b78c501
X:11317062 AMELX C>A	X	11317062	11317062	C	A	AMELX	c.581C>A	NM_182680.1	NP_872621.1:p.(Pro194Gln)	NC_000023.10:g.11317062C>A	(Likely) benign	2 labs	0d19e0475d
16:56548501 BBS2 C>T	16	56548501	56548501	C	T	BBS2	c.209G>A	NM_031885.5	NP_114091.4:p.(Ser70Asn)	NC_000016.9:g.56548501C>T	(Likely) benign	6 labs	1a07998e6d
6:75836079 COL12A1 A>G	6	75836079	75836079	A	G	COL12A1	c.6448T>C	NM_004370.6	NP_004361.3:p.(Tyr2150His)	NC_000006.11:g.75836079A>G	VUS	2 labs	0d23e838b8
16:23646756 PALB2 C>T	16	23646756	23646756	C	T	PALB2	c.1111G>A	NM_024675.4	NP_078951.2:p.(Glu371Lys)	NC_000016.9:g.23646756C>T	VUS	2 labs	0d38fd1c5a
14:23853849 MYH6 C>T	14	23853849	23853849	C	T	MYH6	c.5367G>A	NM_002471.4	NP_002462.2:p.(Glu1789=)	NC_000014.8:g.23853849C>T	(Likely) benign	2 labs	0d62921903
19:12767853 MAN2B1 C>A	19	12767853	12767853	C	A	MAN2B1	c.1437G>T	NM_000528.4	NP_000519.2:p.(Ala479=)	NC_000019.9:g.12767853C>A	(Likely) benign	4 labs	1a0e27018a
2:233708806 GIGYF2 A>G	2	233708806	233708806	A	G	GIGYF2	c.2940A>G	NM_015575.4	NP_056390.2:p.(Gln980=)	NC_000002.11:g.233708806A>G	(Likely) benign	3 labs	1a0e2d7014
X:53279480 IQSEC2 C>T	X	53279480	53279480	C	T	IQSEC2	c.2278G>A	NM_001111125.3	NP_001104595.1:p.(Gly760Ser)	NC_000023.10:g.53279480C>T	(Likely) pathogenic	2 labs	33a6e86cff
11:17627514 OTOG C>T	11	17627514	17627514	C	T	OTOG	c.3988C>T	NM_001292063.2	NP_001278992.1:p.(Gln1330Ter)	NC_000011.9:g.17627514C>T	(Likely) pathogenic	2 labs	0e25ae290f
14:68219200 ZFYVE26 C>T	14	68219200	68219200	C	T	ZFYVE26	c.7232G>A	NM_015346.3	NP_056161.2:p.(Arg2411His)	NC_000014.8:g.68219200C>T	(Likely) benign	3 labs	0e2edabe38
17:62029006 SCN4A A>G	17	62029006	62029006	A	G	SCN4A	c.2631T>C	NM_000334.4	NP_000325.4:p.(Asp877=)	NC_000017.10:g.62029006A>G	(Likely) benign	2 labs	0e39a33e7a
17:7578159 TP53 C>G	17	7578159	7578159	C	G	TP53	c.672+18G>C	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7578159C>G	(Likely) benign	2 labs	0e5e1bdd38
17:61489349 TANC2 C>T	17	61489349	61489349	C	T	TANC2	c.3544-10C>T	NM_025185.4	NP_079461.2:p.?	NC_000017.10:g.61489349C>T	(Likely) benign	2 labs	0e6b259fda
16:31499371 SLC5A2 C>T	16	31499371	31499371	C	T	SLC5A2	c.898C>T	NM_003041.4	NP_003032.1:p.(Arg300Cys)	NC_000016.9:g.31499371C>T	VUS	2 labs	0e6924ceb3
2:152534216 NEB C>T	2	152534216	152534216	C	T	NEB	c.3637G>A	NM_001271208.1	NP_001258137.1:p.(Val1213Ile)	NC_000002.11:g.152534216C>T	(Likely) benign	2 labs	0e946e0315
12:102869434 IGF1 C>T	12	102869434	102869434	C	T	IGF1	c.207G>A	NM_001111283.3	NP_001104753.1:p.(Arg69=)	NC_000012.11:g.102869434C>T	(Likely) benign	2 labs	0f066675c4
3:186299800 DNAJB11 C>T	3	186299800	186299800	C	T	DNAJB11	c.616C>T	NM_016306.5	NP_057390.1:p.(Arg206Ter)	NC_000003.11:g.186299800C>T	(Likely) pathogenic	2 labs	1a7d681edd
19:11221435 LDLR C>T	19	11221435	11221435	C	T	LDLR	c.1048C>T	NM_000527.5	NP_000518.1:p.(Arg350Ter)	NC_000019.9:g.11221435C>T	(Likely) pathogenic	3 labs	1a215f9091
6:51930886 PKHD1 T>TA	6	51930886	51930900	T	TA	PKHD1	c.779-12dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51930900dup	(Likely) benign	2 labs	0fa53165fa
13:23913939 SACS A>G	13	23913939	23913939	A	G	SACS	c.4076T>C	NM_014363.6	NP_055178.3:p.(Met1359Thr)	NC_000013.10:g.23913939A>G	(Likely) benign	4 labs	1a2eda944f
2:170354136 BBS5 G>C	2	170354136	170354136	G	C	BBS5	c.619-1G>C	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170354136G>C	(Likely) pathogenic	2 labs	0ff5cf14e0
2:179455115 TTN C>T	2	179455115	179455115	C	T	TTN	c.61337G>A	NM_001267550.2	NP_001254479.2:p.(Arg20446His)	NC_000002.11:g.179455115C>T	VUS	2 labs	1001f7fc8b
14:102452354 DYNC1H1 C>T	14	102452354	102452354	C	T	DYNC1H1	c.1792C>T	NM_001376.4	NP_001367.2:p.(Arg598Cys)	NC_000014.8:g.102452354C>T	(Likely) pathogenic	2 labs	1035e215a0
19:38959680 RYR1 C>T	19	38959680	38959680	C	T	RYR1	c.3456C>T	NM_000540.3	NP_000531.2:p.(Ile1152=)	NC_000019.9:g.38959680C>T	(Likely) benign	3 labs	1a3775e125
7:47924233 PKD1L1 G>A	7	47924233	47924233	G	A	PKD1L1	c.3228C>T	NM_138295.5	NP_612152.1:p.(Asp1076=)	NC_000007.13:g.47924233G>A	(Likely) benign	2 labs	105c350cef
9:138678253 KCNT1 G>A	9	138678253	138678253	G	A	KCNT1	c.3388G>A	NM_020822.2	NP_065873.2:p.(Ala1130Thr)	NC_000009.11:g.138678253G>A	(Likely) benign	2 labs	10914edc36
17:17697101 RAI1 AGCAG>A	17	17697101	17697105	AGCAG	A	RAI1	c.840_843del	NM_030665.4	NP_109590.3:p.(Gln280HisfsTer83)	NC_000017.10:g.17697102_17697105del	(Likely) benign	3 labs	109088a286
3:184075663 CLCN2 G>A	3	184075663	184075663	G	A	CLCN2	c.616-19C>T	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184075663G>A	(Likely) benign	2 labs	10c6342b39
2:177134402 MTX2 C>T	2	177134402	177134402	C	T	MTX2	c.-195+5C>T	NM_001006635.3	NP_001006636.1:p.?	NC_000002.11:g.177134402C>T	(Likely) benign	2 labs	10c99ab74a
19:33792631 CEBPA C>A	19	33792631	33792631	C	A	CEBPA	c.690G>T	NM_004364.5	NP_004355.2:p.(Thr230=)	NC_000019.9:g.33792631C>A	(Likely) benign	2 labs	1a94c7a4be
X:37553706 XK G>A	X	37553706	37553706	G	A	XK	c.413G>A	NM_021083.4	NP_066569.1:p.(Arg138Gln)	NC_000023.10:g.37553706G>A	VUS	2 labs	10ed71f2c4
2:48027675 MSH6 CAAG>C	2	48027675	48027685	CAAG	C	MSH6	c.2561_2563del	NM_000179.3	NP_000170.1:p.(Lys854del)	NC_000002.11:g.48027683_48027685del	VUS	2 labs	11155b1db0
16:2185509 PKD1 G>A	16	2185509	2185509	G	A	PKD1	c.182C>T	NM_001009944.2	NP_001009944.2:p.(Pro61Leu)	NC_000016.9:g.2185509G>A	(Likely) benign	2 labs	11be34259b
1:45966071 MMACHC G>T	1	45966071	45966071	G	T	MMACHC	c.67G>T	NM_015506.3	NP_056321.2:p.(Val23Phe)	NC_000001.10:g.45966071G>T	VUS	4 labs	1a44f56576
1:235926057 LYST T>C	1	235926057	235926057	T	C	LYST	c.6216A>G	NM_000081.3	NP_000072.2:p.(Val2072=)	NC_000001.10:g.235926057T>C	(Likely) benign	2 labs	11f7a642a5
17:42338993 SLC4A1 C>T	17	42338993	42338993	C	T	SLC4A1	c.118G>A	NM_000342.4	NP_000333.1:p.(Glu40Lys)	NC_000017.10:g.42338993C>T	(Likely) benign	2 labs	121565c2e5
12:57441459 MYO1A G>A	12	57441459	57441459	G	A	MYO1A	c.277C>T	NM_001256041.2	NP_001242970.1:p.(Arg93Ter)	NC_000012.11:g.57441459G>A	(Likely) benign	3 labs	1a48b7352f
9:139995540 MAN1B1 C>T	9	139995540	139995540	C	T	MAN1B1	c.1000C>T	NM_016219.5	NP_057303.2:p.(Arg334Cys)	NC_000009.11:g.139995540C>T	(Likely) pathogenic	2 labs	127490c192
1:201052437 CACNA1S G>A	1	201052437	201052437	G	A	CACNA1S	c.1246C>T	NM_000069.3	NP_000060.2:p.(Gln416Ter)	NC_000001.10:g.201052437G>A	VUS	2 labs	1277b6f5f4
1:197070815 ASPM T>C	1	197070815	197070815	T	C	ASPM	c.7566A>G	NM_018136.5	NP_060606.3:p.(Leu2522=)	NC_000001.10:g.197070815T>C	(Likely) benign	3 labs	1a50d638ed
14:77915627 VIPAS39 G>A	14	77915627	77915627	G	A	VIPAS39	c.447+9C>T	NM_022067.4	NP_071350.2:p.?	NC_000014.8:g.77915627G>A	(Likely) benign	2 labs	12ae0b3509
16:2147789 PKD1 G>A	16	2147789	2147789	G	A	PKD1	c.10168-8C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2147789G>A	(Likely) benign	2 labs	12b22b16a3
2:166781188 TTC21B G>A	2	166781188	166781188	G	A	TTC21B	c.1387C>T	NM_024753.5	NP_079029.3:p.(Pro463Ser)	NC_000002.11:g.166781188G>A	(Likely) benign	2 labs	12da879eba
X:18582646 CDKL5 G>GAT	X	18582646	18582670	G	GAT	CDKL5	c.145+27_145+28dup	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18582669_18582670dup	(Likely) benign	2 labs	1abac936e5
12:40619082 LRRK2 G>A	12	40619082	40619082	G	A	LRRK2	c.149G>A	NM_198578.4	NP_940980.4:p.(Arg50His)	NC_000012.11:g.40619082G>A	(Likely) benign	3 labs	1a59dac26e
17:62034609 SCN4A G>A	17	62034609	62034609	G	A	SCN4A	c.2289C>T	NM_000334.4	NP_000325.4:p.(Ile763=)	NC_000017.10:g.62034609G>A	(Likely) benign	2 labs	1308ee3010
1:45797760 MUTYH T>C	1	45797760	45797760	T	C	MUTYH	c.934-2A>G	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45797760T>C	(Likely) benign	2 labs	1a65800463
1:173797455 DARS2 C>G	1	173797455	173797455	C	G	DARS2	c.228-16C>G	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797455C>G	VUS	2 labs	1a6589624c
2:220416942 OBSL1 G>C	2	220416942	220416942	G	C	OBSL1	c.5309-4C>G	NM_015311.3	NP_056126.1:p.?	NC_000002.11:g.220416942G>C	(Likely) benign	2 labs	1a65e1f301
16:2155424 PKD1 G>A	16	2155424	2155424	G	A	PKD1	c.7915C>T	NM_001009944.2	NP_001009944.2:p.(Arg2639Ter)	NC_000016.9:g.2155424G>A	(Likely) pathogenic	2 labs	13b12f4d10
9:90584783 CDK20 C>T	9	90584783	90584783	C	T	CDK20	c.615G>A	NM_001039803.2	NP_001034892.1:p.(Pro205=)	NC_000009.11:g.90584783C>T	(Likely) benign	2 labs	13c42428b6
16:30750168 SRCAP AAAG>A	16	30750168	30750174	AAAG	A	SRCAP	c.8811_8813del	NM_006662.3	NP_006653.2:p.(Arg2939del)	NC_000016.9:g.30750172_30750174del	VUS	2 labs	13d3f9bfe5
15:89398631 ACAN T>A	15	89398631	89398631	T	A	ACAN	c.2815T>A	NM_013227.4	NP_037359.3:p.(Ser939Thr)	NC_000015.9:g.89398631T>A	(Likely) benign	2 labs	1a69fa5fa9
6:135644371 AHI1 T>C	6	135644371	135644371	T	C	AHI1	c.3257A>G	NM_001134831.2	NP_001128303.1:p.(Glu1086Gly)	NC_000006.11:g.135644371T>C	(Likely) benign	3 labs	1a6eff0d24
22:21350369 LZTR1 C>T	22	21350369	21350369	C	T	LZTR1	c.2187C>T	NM_006767.4	NP_006758.2:p.(Tyr729=)	NC_000022.10:g.21350369C>T	(Likely) benign	2 labs	14341444f5
7:107545799 DLD T>C	7	107545799	107545799	T	C	DLD	c.439-7T>C	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107545799T>C	(Likely) benign	3 labs	1a71e3704f
3:129292577 PLXND1 CAG>C	3	129292577	129292579	CAG	C	PLXND1	c.2695_2696del	NM_015103.3	NP_055918.3:p.(Leu899GlufsTer23)	NC_000003.11:g.129292578_129292579del	VUS	2 labs	1489eca285
11:5248004 HBB G>A	11	5248004	5248004	G	A	HBB	c.118C>T	NM_000518.5	NP_000509.1:p.(Gln40Ter)	NC_000011.9:g.5248004G>A	(Likely) pathogenic	2 labs	149d9dcfab
6:36652067 CDKN1A C>A	6	36652067	36652067	C	A	CDKN1A	c.189C>A	NM_001220778.2	NP_001207707.1:p.(Phe63Leu)	NC_000006.11:g.36652067C>A	(Likely) benign	2 labs	14b0b28348
10:76781863 KAT6B AGAG>A	10	76781863	76781871	AGAG	A	KAT6B	c.3252_3254del	NM_012330.4	NP_036462.2:p.(Glu1089del)	NC_000010.10:g.76781869_76781871del	(Likely) benign	2 labs	14dc6df5b4
16:2158734 PKD1 G>A	16	2158734	2158734	G	A	PKD1	c.6434C>T	NM_001009944.3	NP_001009944.3:p.(Ala2145Val)	NC_000016.9:g.2158734G>A	VUS	2 labs	14fc2a6d9b
11:130064647 ST14 G>A	11	130064647	130064647	G	A	ST14	c.1113+15G>A	NM_021978.4	NP_068813.1:p.?	NC_000011.9:g.130064647G>A	(Likely) benign	2 labs	1a822ee867
11:108115544 ATM A>G	11	108115544	108115544	A	G	ATM	c.692A>G	NM_000051.4	NP_000042.3:p.(His231Arg)	NC_000011.9:g.108115544A>G	VUS	2 labs	1a870b6d0d
12:122242665 SETD1B CA>C	12	122242665	122242666	CA	C	SETD1B	c.23del	NM_001353345.2	NP_001340274.1:p.(His8ProfsTer27)	NC_000012.11:g.122242666del	(Likely) benign	2 labs	153a777b8e
7:69900773 AUTS2 A>AC	7	69900773	69900780	A	AC	AUTS2	c.690+13dup	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69900780dup	(Likely) benign	2 labs	1542c8ec9d
15:89389099 ACAN C>T	15	89389099	89389099	C	T	ACAN	c.1415C>T	NM_001369268.1	NP_001356197.1:p.(Pro472Leu)	NC_000015.9:g.89389099C>T	VUS	2 labs	154a80a891
1:78383290 NEXN G>A	1	78383290	78383290	G	A	NEXN	c.67G>A	NM_144573.4	NP_653174.3:p.(Val23Ile)	NC_000001.10:g.78383290G>A	VUS	3 labs	1a8d0efbc6
19:12760746 MAN2B1 G>A	19	12760746	12760746	G	A	MAN2B1	c.2248C>T	NM_000528.4	NP_000519.2:p.(Arg750Trp)	NC_000019.9:g.12760746G>A	(Likely) pathogenic	2 labs	1567984f22
7:4830463 AP5Z1 G>A	7	4830463	4830463	G	A	AP5Z1	c.2098G>A	NM_014855.3	NP_055670.1:p.(Val700Met)	NC_000007.13:g.4830463G>A	(Likely) benign	2 labs	1566480191
4:149356516 NR3C2 A>G	4	149356516	149356516	A	G	NR3C2	c.1497T>C	NM_000901.5	NP_000892.2:p.(Asp499=)	NC_000004.11:g.149356516A>G	(Likely) benign	2 labs	1a8f193f57
7:6017306 PMS2 C>G	7	6017306	6017306	C	G	PMS2	c.2358G>C	NM_000535.7	NP_000526.2:p.(Leu786=)	NC_000007.13:g.6017306C>G	(Likely) benign	2 labs	158673edde
19:3110199 GNA11 C>T	19	3110199	3110199	C	T	GNA11	c.189C>T	NM_002067.5	NP_002058.2:p.(His63=)	NC_000019.9:g.3110199C>T	(Likely) benign	3 labs	15b7c98e62
13:110850853 COL4A1 G>C	13	110850853	110850853	G	C	COL4A1	c.1246C>G	NM_001845.6	NP_001836.3:p.(Pro416Ala)	NC_000013.10:g.110850853G>C	(Likely) benign	2 labs	1a9e7bf2aa
8:11405542 BLK C>G	8	11405542	11405542	C	G	BLK	c.177C>G	NM_001715.3	NP_001706.2:p.(Asp59Glu)	NC_000008.10:g.11405542C>G	(Likely) benign	2 labs	1632efb0e0
18:25570122 CDH2 C>G	18	25570122	25570122	C	G	CDH2	c.1537G>C	NM_001792.5	NP_001783.2:p.(Gly513Arg)	NC_000018.9:g.25570122C>G	VUS	2 labs	1aa876db58
15:73615229 HCN4 G>A	15	73615229	73615229	G	A	HCN4	c.3205C>T	NM_005477.3	NP_005468.1:p.(Arg1069Trp)	NC_000015.9:g.73615229G>A	VUS	3 labs	1aac85d459
1:152278484 FLG C>T	1	152278484	152278484	C	T	FLG	c.8878G>A	NM_002016.2	NP_002007.1:p.(Gly2960Ser)	NC_000001.10:g.152278484C>T	(Likely) benign	2 labs	16479c81ae
5:127671232 FBN2 G>A	5	127671232	127671232	G	A	FBN2	c.3762C>T	NM_001999.4	NP_001990.2:p.(Asp1254=)	NC_000005.9:g.127671232G>A	(Likely) benign	2 labs	1697b76563
1:156108471 LMNA G>A	1	156108471	156108471	G	A	LMNA	c.1891G>A	NM_170707.4	NP_733821.1:p.(Gly631Ser)	NC_000001.10:g.156108471G>A	VUS	2 labs	1703d48ff3
19:10473138 TYK2 A>G	19	10473138	10473138	A	G	TYK2	c.1477-6T>C	NM_003331.5	NP_003322.3:p.?	NC_000019.9:g.10473138A>G	(Likely) benign	2 labs	1ab9a24048
X:70342211 MED12 T>C	X	70342211	70342211	T	C	MED12	c.1248+15T>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70342211T>C	(Likely) benign	2 labs	1abcd77767
16:2134994 TSC2 C>T	16	2134994	2134994	C	T	TSC2	c.4536C>T	NM_000548.5	NP_000539.2:p.(Asp1512=)	NC_000016.9:g.2134994C>T	(Likely) benign	3 labs	1718b6e85d
16:68867343 CDH1 G>A	16	68867343	68867343	G	A	CDH1	c.2590G>A	NM_004360.5	NP_004351.1:p.(Glu864Lys)	NC_000016.9:g.68867343G>A	VUS	2 labs	1763fb2aef
X:54784246 ITIH6 G>A	X	54784246	54784246	G	A	ITIH6	c.2261C>T	NM_198510.3	NP_940912.1:p.(Thr754Met)	NC_000023.10:g.54784246G>A	(Likely) benign	2 labs	17a3dd7dab
11:108224622 ATM G>A	11	108224622	108224622	G	A	ATM	c.8786+15G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224622G>A	(Likely) benign	2 labs	1810d38f7f
2:179404102 TTN C>G	2	179404102	179404102	C	G	TTN	c.98683+7G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179404102C>G	(Likely) benign	2 labs	1acc0f20e7
19:8670207 ADAMTS10 G>T	19	8670207	8670207	G	T	ADAMTS10	c.125C>A	NM_030957.4	NP_112219.3:p.(Ala42Asp)	NC_000019.9:g.8670207G>T	VUS	2 labs	184ac57fa8
2:179590301 TTN A>G	2	179590301	179590301	A	G	TTN	c.20630T>C	NM_001267550.2	NP_001254479.2:p.(Ile6877Thr)	NC_000002.11:g.179590301A>G	(Likely) benign	2 labs	1acd4c4436
17:42990679 GFAP C>T	17	42990679	42990679	C	T	GFAP	c.738G>A	NM_002055.5	NP_002046.1:p.(Ala246=)	NC_000017.10:g.42990679C>T	(Likely) benign	2 labs	1868634d41
13:32914127 BRCA2 G>A	13	32914127	32914127	G	A	BRCA2	c.5635G>A	NM_000059.4	NP_000050.3:p.(Glu1879Lys)	NC_000013.10:g.32914127G>A	(Likely) benign	4 labs	1acfe47e43
4:15575845 CC2D2A G>T	4	15575845	15575845	G	T	CC2D2A	c.3667G>T	NM_001378615.1	NP_001365544.1:p.(Glu1223Ter)	NC_000004.11:g.15575845G>T	(Likely) pathogenic	2 labs	18a91eb11b
8:61707630 CHD7 G>C	8	61707630	61707630	G	C	CHD7				NC_000008.10:g.61707630G>C	(Likely) benign	2 labs	18a5259150
20:60910177 LAMA5 G>A	20	60910177	60910177	G	A	LAMA5	c.2382C>T	NM_005560.4	NP_005551.3:p.(Thr794=)	NC_000020.10:g.60910177G>A	(Likely) benign	2 labs	18c32bd3a3
2:74185876 DGUOK A>T	2	74185876	74185876	A	T	DGUOK	c.*13A>T	NM_080916.3	NP_550438.1:p.?	NC_000002.11:g.74185876A>T	(Likely) benign	3 labs	1ad4c9efd1
11:111715397 ALG9 A>G	11	111715397	111715397	A	G	ALG9	c.357T>C	NM_001352422.1	NP_001339351.1:p.(Asn119=)	NC_000011.9:g.111715397A>G	(Likely) benign	2 labs	18d665a6bf
8:22031205 BMP1 G>A	8	22031205	22031205	G	A	BMP1	c.239G>A	NM_006129.5	NP_006120.1:p.(Arg80His)	NC_000008.10:g.22031205G>A	(Likely) benign	2 labs	18f0d59b64
14:23898164 MYH7 A>G	14	23898164	23898164	A	G	MYH7	c.1407T>C	NM_000257.4	NP_000248.2:p.(Asp469=)	NC_000014.8:g.23898164A>G	(Likely) benign	2 labs	190b7b728b
16:68855984 CDH1 C>T	16	68855984	68855984	C	T	CDH1	c.1792C>T	NM_004360.5	NP_004351.1:p.(Arg598Ter)	NC_000016.9:g.68855984C>T	(Likely) pathogenic	2 labs	1ade14b610
13:20763744 GJB2 T>G	13	20763744	20763744	T	G	GJB2	c.-22-2A>C	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20763744T>G	(Likely) pathogenic	2 labs	19354555e6
2:166909379 SCN1A G>A	2	166909379	166909379	G	A	SCN1A	c.677C>T	NM_001165963.3	NP_001159435.1:p.(Thr226Met)	NC_000002.11:g.166909379G>A	(Likely) pathogenic	3 labs	19424aea96
6:42932527 PEX6 C>T	6	42932527	42932527	C	T	PEX6	c.2806+1G>A	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42932527C>T	(Likely) pathogenic	2 labs	197c16a5a2
3:189612062 TP63 G>A	3	189612062	189612062	G	A	TP63	c.1808G>A	NM_001329964.2	NP_001316893.1:p.(Arg603Gln)	NC_000003.11:g.189612062G>A	VUS	2 labs	1af082eb1c
4:79455714 FRAS1 C>G	4	79455714	79455714	C	G	FRAS1	c.11037C>G	NM_025074.7	NP_079350.5:p.(Pro3679=)	NC_000004.11:g.79455714C>G	(Likely) benign	2 labs	1af0bcf5ac
8:43054553 HGSNAT T>C	8	43054553	43054553	T	C	HGSNAT	c.1749T>C	NM_152419.3	NP_689632.2:p.(Tyr583=)	NC_000008.10:g.43054553T>C	(Likely) benign	5 labs	1b00dfe0af
6:51484080 PKHD1 T>C	6	51484080	51484080	T	C	PKHD1	c.12024A>G	NM_138694.4	NP_619639.3:p.(Arg4008=)	NC_000006.11:g.51484080T>C	VUS	2 labs	1aea9db73b
1:160106160 ATP1A2 G>A	1	160106160	160106160	G	A	ATP1A2	c.2563G>A	NM_000702.4	NP_000693.1:p.(Gly855Arg)	NC_000001.10:g.160106160G>A	(Likely) pathogenic	2 labs	1b183940a9
14:58937423 KIAA0586 TG>T	14	58937423	58937424	TG	T	KIAA0586	c.2695del	NM_001244189.2	NP_001231118.1:p.(Val899CysfsTer5)	NC_000014.8:g.58937424del	(Likely) pathogenic	2 labs	1b09d1f5b1
6:31914024 CFB T>A	6	31914024	31914024	T	A	CFB	c.26T>A	NM_001710.6	NP_001701.2:p.(Leu9His)	NC_000006.11:g.31914024T>A	(Likely) benign	4 labs	1b140ee8ae
20:61050379 GATA5 T>G	20	61050379	61050379	T	G	GATA5	c.199A>C	NM_080473.5	NP_536721.1:p.(Thr67Pro)	NC_000020.10:g.61050379T>G	(Likely) benign	2 labs	1bb27176db
1:156105731 LMNA T>A	1	156105731	156105731	T	A	LMNA	c.976T>A	NM_170707.4	NP_733821.1:p.(Ser326Thr)	NC_000001.10:g.156105731T>A	VUS	3 labs	1b18d39c96
19:49469986 FTL C>T	19	49469986	49469986	C	T	FTL	c.522C>T	NM_000146.4	NP_000137.2:p.(His174=)	NC_000019.9:g.49469986C>T	(Likely) benign	4 labs	1b2493457e
5:149515397 PDGFRB T>A	5	149515397	149515397	T	A	PDGFRB	c.85A>T	NM_002609.4	NP_002600.1:p.(Ile29Phe)	NC_000005.9:g.149515397T>A	(Likely) benign	2 labs	1c31a4248e
19:36336274 NPHS1 T>C	19	36336274	36336274	T	C	NPHS1	c.1926A>G	NM_004646.3	NP_004637.1:p.(Val642=)	NC_000019.9:g.36336274T>C	(Likely) benign	2 labs	1b40d15240
7:150645534 KCNH2 T>G	7	150645534	150645534	T	G	KCNH2	c.2690A>C	NM_000238.4	NP_000229.1:p.(Lys897Thr)	NC_000007.13:g.150645534T>G	(Likely) benign	3 labs	1b2aa6340d
2:152417628 NEB G>A	2	152417628	152417628	G	A	NEB	c.19102-6C>T	NM_001164507.1	NP_001157979.1:p.?	NC_000002.11:g.152417628G>A	(Likely) benign	2 labs	1b457a1ea7
5:176637768 NSD1 A>T	5	176637768	176637768	A	T	NSD1	c.2368A>T	NM_022455.5	NP_071900.2:p.(Ile790Leu)	NC_000005.9:g.176637768A>T	VUS	2 labs	1b2f700822
2:5833525 SOX11 GGAC>G	2	5833525	5833554	GGAC	G	SOX11	c.699_701del	NM_003108.4	NP_003099.1:p.(Asp233del)	NC_000002.11:g.5833552_5833554del	(Likely) benign	2 labs	1b301e464c
5:94861118 SKIC3 G>C	5	94861118	94861118	G	C	SKIC3	c.1309C>G	NM_014639.4	NP_055454.1:p.(Leu437Val)	NC_000005.9:g.94861118G>C	(Likely) benign	2 labs	1b504190af
12:48380141 COL2A1 G>A	12	48380141	48380141	G	A	COL2A1	c.1505C>T	NM_001844.5	NP_001835.3:p.(Pro502Leu)	NC_000012.11:g.48380141G>A	VUS	2 labs	1cf259799d
3:49455395 AMT G>A	3	49455395	49455395	G	A	AMT	c.889C>T	NM_000481.3	NP_000472.2:p.(Arg297Ter)	NC_000003.11:g.49455395G>A	(Likely) pathogenic	2 labs	1b551ba395
3:33174156 CRTAP T>G	3	33174156	33174156	T	G	CRTAP	c.1032T>G	NM_006371.5	NP_006362.1:p.(Thr344=)	NC_000003.11:g.33174156T>G	(Likely) benign	2 labs	1b343b5ab2
16:49671685 ZNF423 C>T	16	49671685	49671685	C	T	ZNF423	c.1198G>A	NM_001271620.2	NP_001258549.1:p.(Val400Ile)	NC_000016.9:g.49671685C>T	VUS	2 labs	1d4c1abecc
16:2155364 PKD1 CCA>C	16	2155364	2155368	CCA	C	PKD1	c.7973_7974del	NM_001009944.3	NP_001009944.3:p.(Val2658GlyfsTer2)	NC_000016.9:g.2155367_2155368del	(Likely) pathogenic	2 labs	1d58cecf35
11:108163323 ATM GT>G	11	108163323	108163332	GT	G	ATM	c.4437-14del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108163332del	(Likely) benign	2 labs	1d5b98dff4
X:38229135 OTC G>C	X	38229135	38229135	G	C	OTC	c.298+5G>C	NM_000531.6	NP_000522.3:p.?	NC_000023.10:g.38229135G>C	(Likely) benign	2 labs	1d90aee55b
16:70298936 AARS1 G>A	16	70298936	70298936	G	A	AARS1	c.1417C>T	NM_001605.3	NP_001596.2:p.(Leu473Phe)	NC_000016.9:g.70298936G>A	VUS	2 labs	1da80b93db
14:32257017 NUBPL T>C	14	32257017	32257017	T	C	NUBPL	c.545T>C	NM_025152.3	NP_079428.2:p.(Val182Ala)	NC_000014.8:g.32257017T>C	(Likely) benign	4 labs	1b4bf5df4f
1:237619997 RYR2 C>G	1	237619997	237619997	C	G	RYR2	c.1574C>G	NM_001035.3	NP_001026.2:p.(Ser525Cys)	NC_000001.10:g.237619997C>G	VUS	2 labs	1b4dda8c11
1:111146524 KCNA2 C>T	1	111146524	111146524	C	T	KCNA2	c.881G>A	NM_004974.4	NP_004965.1:p.(Arg294His)	NC_000001.10:g.111146524C>T	(Likely) pathogenic	2 labs	1db953b62c
X:43603391 MAOA T>C	X	43603391	43603391	T	C	MAOA	c.1011T>C	NM_001270458.2	NP_001257387.1:p.(Asp337=)	NC_000023.10:g.43603391T>C	(Likely) benign	2 labs	1b52fd1c5e
2:238280906 COL6A3 G>A	2	238280906	238280906	G	A	COL6A3	c.3754C>T	NM_004369.4	NP_004360.2:p.(Arg1252Cys)	NC_000002.11:g.238280906G>A	VUS	2 labs	1ddc1e788e
19:45409180 APOE G>A	19	45409180	45409180	G	A	APOE	c.-24+82G>A	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45409180G>A	VUS	2 labs	1b560b86f0
3:120365867 HGD C>T	3	120365867	120365867	C	T	HGD	c.502G>A	NM_000187.4	NP_000178.2:p.(Glu168Lys)	NC_000003.11:g.120365867C>T	(Likely) pathogenic	2 labs	1b5941938b
2:228176555 COL4A3 G>A	2	228176555	228176555	G	A	COL4A3	c.4982G>A	NM_000091.5	NP_000082.2:p.(Arg1661His)	NC_000002.11:g.228176555G>A	(Likely) pathogenic	2 labs	1dec89d941
4:88929054 PKD2 C>T	4	88929054	88929054	C	T	PKD2	c.169C>T	NM_000297.4	NP_000288.1:p.(Gln57Ter)	NC_000004.11:g.88929054C>T	(Likely) pathogenic	2 labs	1b5ddc362a
19:11552050 PRKCSH C>T	19	11552050	11552050	C	T	PRKCSH	c.351-5C>T	NM_001289104.2	NP_001276033.1:p.?	NC_000019.9:g.11552050C>T	(Likely) benign	2 labs	1e1c33a39b
X:107930872 COL4A5 C>T	X	107930872	107930872	C	T	COL4A5	c.4458C>T	NM_000495.5	NP_000486.1:p.(Gly1486=)	NC_000023.10:g.107930872C>T	(Likely) benign	2 labs	1b602524f5
15:44944341 SPG11 G>A	15	44944341	44944341	G	A	SPG11	c.993C>T	NM_025137.4	NP_079413.3:p.(Ser331=)	NC_000015.9:g.44944341G>A	(Likely) benign	2 labs	1e365655c3
14:23892888 MYH7 A>G	14	23892888	23892888	A	G	MYH7	c.2967T>C	NM_000257.4	NP_000248.2:p.(Ile989=)	NC_000014.8:g.23892888A>G	(Likely) benign	5 labs	1b6b4ab1d1
11:686992 DEAF1 G>A	11	686992	686992	G	A	DEAF1	c.670C>T	NM_021008.4	NP_066288.2:p.(Arg224Trp)	NC_000011.9:g.686992G>A	(Likely) pathogenic	3 labs	1b74c43e98
3:189586403 TP63 C>T	3	189586403	189586403	C	T	TP63	c.1027C>T	NM_003722.5	NP_003713.3:p.(Arg343Trp)	NC_000003.11:g.189586403C>T	(Likely) pathogenic	2 labs	1b79b3c83b
2:170336088 BBS5 G>A	2	170336088	170336088	G	A	BBS5	c.25G>A	NM_152384.3	NP_689597.1:p.(Glu9Lys)	NC_000002.11:g.170336088G>A	VUS	2 labs	1f0f0c9e41
16:16278869 ABCC6 G>C	16	16278869	16278869	G	C	ABCC6	c.1890C>G	NM_001171.6	NP_001162.5:p.(Thr630=)	NC_000016.9:g.16278869G>C	(Likely) benign	2 labs	1b7ea0f755
6:137219380 PEX7 G>C	6	137219380	137219380	G	C	PEX7	c.903+1G>C	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137219380G>C	(Likely) pathogenic	3 labs	1b80da2a34
12:48367976 COL2A1 C>T	12	48367976	48367976	C	T	COL2A1	c.4213G>A	NM_001844.5	NP_001835.3:p.(Gly1405Ser)	NC_000012.11:g.48367976C>T	(Likely) benign	2 labs	1b82aa1cea
19:4110554 MAP2K2 C>T	19	4110554	4110554	C	T	MAP2K2	c.403G>A	NM_030662.4	NP_109587.1:p.(Gly135Arg)	NC_000019.9:g.4110554C>T	VUS	2 labs	1fdee0d44f
2:179466609 TTN C>T	2	179466609	179466609	C	T	TTN	c.55302G>A	NM_001267550.2	NP_001254479.2:p.(Gln18434=)	NC_000002.11:g.179466609C>T	VUS	4 labs	1b874202da
6:33132216 COL11A2 C>T	6	33132216	33132216	C	T	COL11A2	c.4898G>A	NM_080680.3	NP_542411.2:p.(Gly1633Asp)	NC_000006.11:g.33132216C>T	VUS	2 labs	20189c7244
17:16875332 TNFRSF13B G>A	17	16875332	16875332	G	A	TNFRSF13B	c.58C>T	NM_012452.3	NP_036584.1:p.(Arg20Cys)	NC_000017.10:g.16875332G>A	VUS	2 labs	203acd0acf
16:89828357 FANCA C>T	16	89828357	89828357	C	T	FANCA	c.2852G>A	NM_000135.4	NP_000126.2:p.(Arg951Gln)	NC_000016.9:g.89828357C>T	(Likely) pathogenic	2 labs	209672632f
20:10388352 MKKS T>C	20	10388352	10388352	T	C	MKKS	c.1184A>G	NM_170784.3	NP_740754.1:p.(His395Arg)	NC_000020.10:g.10388352T>C	VUS	2 labs	20c025671e
2:211521227 CPS1 CT>C	2	211521227	211521242	CT	C	CPS1	c.3559-7del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211521242del	(Likely) benign	3 labs	1b9212a32c
10:112581039 RBM20 G>A	10	112581039	112581039	G	A	RBM20	c.2662G>A	NM_001134363.3	NP_001127835.2:p.(Asp888Asn)	NC_000010.10:g.112581039G>A	(Likely) benign	5 labs	1b92215233
2:238287800 COL6A3 C>T	2	238287800	238287800	C	T	COL6A3	c.1976G>A	NM_004369.4	NP_004360.2:p.(Arg659His)	NC_000002.11:g.238287800C>T	(Likely) benign	2 labs	21409196d7
4:119219909 PRSS12 C>A	4	119219909	119219909	C	A	PRSS12	c.1816G>T	NM_003619.4	NP_003610.2:p.(Ala606Ser)	NC_000004.11:g.119219909C>A	(Likely) benign	2 labs	1b9955fc42
16:68721640 CDH3 G>A	16	68721640	68721640	G	A	CDH3	c.1795+1G>A	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68721640G>A	(Likely) pathogenic	2 labs	21640ccc22
17:39923731 JUP A>C	17	39923731	39923731	A	C	JUP	c.809T>G	NM_002230.2	NP_002221.1:p.(Leu270Arg)	NC_000017.10:g.39923731A>C	VUS	2 labs	1bb98e0e99
19:38964275 RYR1 A>G	19	38964275	38964275	A	G	RYR1	c.4024A>G	NM_000540.3	NP_000531.2:p.(Ser1342Gly)	NC_000019.9:g.38964275A>G	(Likely) benign	2 labs	21e92a7d40
6:7580328 DSP G>A	6	7580328	7580328	G	A	DSP	c.3905G>A	NM_004415.4	NP_004406.2:p.(Arg1302His)	NC_000006.11:g.7580328G>A	VUS	2 labs	1ba7f981a9
5:125928395 ALDH7A1 A>G	5	125928395	125928395	A	G	ALDH7A1	c.273T>C	NM_001182.5	NP_001173.2:p.(Thr91=)	NC_000005.9:g.125928395A>G	(Likely) benign	2 labs	1bd5a73b33
7:100218631 TFR2 C>T	7	100218631	100218631	C	T	TFR2	c.2255G>A	NM_003227.4	NP_003218.2:p.(Arg752His)	NC_000007.13:g.100218631C>T	(Likely) benign	2 labs	223e2a3e14
1:103381184 COL11A1 T>TA	1	103381184	103381185	T	TA	COL11A1	c.3816+2dup	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103381185dup	(Likely) pathogenic	2 labs	22a9a5cae6
9:135202829 SETX T>C	9	135202829	135202829	T	C	SETX	c.4156A>G	NM_015046.7	NP_055861.3:p.(Ile1386Val)	NC_000009.11:g.135202829T>C	(Likely) benign	5 labs	1bad27f876
11:108119713 ATM AC>A	11	108119713	108119714	AC	A	ATM	c.1120del	NM_000051.4	NP_000042.3:p.(Gln374LysfsTer16)	NC_000011.9:g.108119714del	(Likely) pathogenic	2 labs	22dc3f0efc
2:179424779 TTN C>T	2	179424779	179424779	C	T	TTN	c.86080G>A	NM_001267550.2	NP_001254479.2:p.(Asp28694Asn)	NC_000002.11:g.179424779C>T	(Likely) benign	2 labs	22debfd624
1:228566129 OBSCN G>T	1	228566129	228566129	G	T	OBSCN	c.26600+8G>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228566129G>T	(Likely) benign	2 labs	22fb69097c
10:122622393 WDR11 C>G	10	122622393	122622393	C	G	WDR11	c.673C>G	NM_018117.12	NP_060587.8:p.(Leu225Val)	NC_000010.10:g.122622393C>G	VUS	2 labs	230400ad5a
2:109379950 RANBP2 G>A	2	109379950	109379950	G	A	RANBP2	c.2955G>A	NM_006267.4	NP_006258.3:p.(Pro985=)	NC_000002.11:g.109379950G>A	(Likely) benign	2 labs	1bf131e822
21:35821821 KCNE1 T>C	21	35821821	35821821	T	C	KCNE1	c.112A>G	NM_000219.6	NP_000210.2:p.(Ser38Gly)	NC_000021.8:g.35821821T>C	(Likely) benign	4 labs	1bb52ca912
1:156084870 LMNA C>T	1	156084870	156084870	C	T	LMNA	c.161C>T	NM_170707.4	NP_733821.1:p.(Thr54Met)	NC_000001.10:g.156084870C>T	VUS	3 labs	235f2405ed
9:441952 DOCK8 G>A	9	441952	441952	G	A	DOCK8	c.5433G>A	NM_203447.4	NP_982272.2:p.(Glu1811=)	NC_000009.11:g.441952G>A	(Likely) benign	2 labs	1bb7a61a76
11:108106579 ATM T>A	11	108106579	108106579	T	A	ATM	c.496+18T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108106579T>A	(Likely) benign	2 labs	239816be90
19:38968426 RYR1 A>G	19	38968426	38968426	A	G	RYR1	c.4370A>G	NM_000540.3	NP_000531.2:p.(His1457Arg)	NC_000019.9:g.38968426A>G	VUS	2 labs	23d0b2f315
2:21238413 APOB C>G	2	21238413	21238413	C	G	APOB	c.3337G>C	NM_000384.3	NP_000375.3:p.(Asp1113His)	NC_000002.11:g.21238413C>G	(Likely) benign	2 labs	1bc0f12b36
10:91007360 LIPA T>G	10	91007360	91007360	T	G	LIPA	c.46A>C	NM_001127605.3	NP_001121077.1:p.(Thr16Pro)	NC_000010.10:g.91007360T>G	(Likely) benign	2 labs	1bc1c6025d
2:179473628 TTN C>T	2	179473628	179473628	C	T	TTN	c.52110G>A	NM_001267550.2	NP_001254479.2:p.(Pro17370=)	NC_000002.11:g.179473628C>T	(Likely) benign	3 labs	1bc48fcb5f
2:165947635 SCN3A G>T	2	165947635	165947635	G	T	SCN3A	c.5028C>A	NM_006922.4	NP_008853.3:p.(Asn1676Lys)	NC_000002.11:g.165947635G>T	VUS	2 labs	2466789008
1:207958446 CD46 C>T	1	207958446	207958446	C	T	CD46	c.1058C>T	NM_002389.4	NP_002380.3:p.(Ala353Val)	NC_000001.10:g.207958446C>T	(Likely) benign	2 labs	1c13defa9c
6:152464839 SYNE1 A>G	6	152464839	152464839	A	G	SYNE1	c.25038T>C	NM_182961.4	NP_892006.3:p.(Arg8346=)	NC_000006.11:g.152464839A>G	(Likely) benign	4 labs	1bd45115b7
12:52200828 SCN8A A>G	12	52200828	52200828	A	G	SCN8A	c.5558A>G	NM_001330260.2	NP_001317189.1:p.(Lys1853Arg)	NC_000012.11:g.52200828A>G	VUS	2 labs	24e63ea95c
1:16378219 CLCNKB C>T	1	16378219	16378219	C	T	CLCNKB	c.1312C>T	NM_000085.4	NP_000076.2:p.(Arg438Cys)	NC_000001.10:g.16378219C>T	(Likely) pathogenic	2 labs	1c26854237
2:47641559 MSH2 TAA>T	2	47641559	47641586	TAA	T	MSH2	c.942+28_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641585_47641586del	(Likely) benign	3 labs	1c268afa40
X:118377123 PGRMC1 A>G	X	118377123	118377123	A	G	PGRMC1	c.494A>G	NM_006667.5	NP_006658.1:p.(His165Arg)	NC_000023.10:g.118377123A>G	(Likely) benign	2 labs	25d27cef8c
10:75860740 VCL A>G	10	75860740	75860740	A	G	VCL	c.1907A>G	NM_014000.3	NP_054706.1:p.(His636Arg)	NC_000010.10:g.75860740A>G	(Likely) benign	4 labs	1bf46ff190
15:55731682 DNAAF4 T>A	15	55731682	55731682	T	A	DNAAF4	c.881A>T	NM_130810.4	NP_570722.2:p.(Lys294Met)	NC_000015.9:g.55731682T>A	VUS	2 labs	1bfb60f718
15:89382052 ACAN C>T	15	89382052	89382052	C	T	ACAN	c.229C>T	NM_001369268.1	NP_001356197.1:p.(Arg77Cys)	NC_000015.9:g.89382052C>T	VUS	2 labs	262f790066
3:38651447 SCN5A T>C	3	38651447	38651447	T	C	SCN5A	c.712A>G	NM_001099404.2	NP_001092874.1:p.(Thr238Ala)	NC_000003.11:g.38651447T>C	VUS	2 labs	1c058a4918
2:170028611 LRP2 C>T	2	170028611	170028611	C	T	LRP2	c.11177G>A	NM_004525.3	NP_004516.2:p.(Arg3726His)	NC_000002.11:g.170028611C>T	VUS	2 labs	26b6c417ef
3:14174082 TMEM43 G>A	3	14174082	14174082	G	A	TMEM43	c.429G>A	NM_024334.3	NP_077310.1:p.(Thr143=)	NC_000003.11:g.14174082G>A	(Likely) benign	3 labs	1c0b20744c
4:88929124 PKD2 C>A	4	88929124	88929124	C	A	PKD2	c.239C>A	NM_000297.4	NP_000288.1:p.(Ser80Ter)	NC_000004.11:g.88929124C>A	(Likely) pathogenic	2 labs	26dead7409
9:35808554 NPR2 C>T	9	35808554	35808554	C	T	NPR2	c.2761C>T	NM_003995.4	NP_003986.2:p.(Arg921Ter)	NC_000009.11:g.35808554C>T	(Likely) pathogenic	2 labs	26f2e65be9
4:55948108 KDR A>G	4	55948108	55948108	A	G	KDR	c.3848+15T>C	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55948108A>G	(Likely) benign	2 labs	1c0e2454ab
4:186067970 SLC25A4 G>A	4	186067970	186067970	G	A	SLC25A4	c.742G>A	NM_001151.4	NP_001142.2:p.(Asp248Asn)	NC_000004.11:g.186067970G>A	VUS	2 labs	2736309b3a
14:23855314 MYH6 C>T	14	23855314	23855314	C	T	MYH6	c.4986G>A	NM_002471.4	NP_002462.2:p.(Ala1662=)	NC_000014.8:g.23855314C>T	(Likely) benign	4 labs	1c1be511c2
15:51514709 CYP19A1 G>A	15	51514709	51514709	G	A	CYP19A1	c.465C>T	NM_000103.4	NP_000094.2:p.(Pro155=)	NC_000015.9:g.51514709G>A	(Likely) benign	2 labs	27c483e3b6
15:89417692 ACAN C>T	15	89417692	89417692	C	T	ACAN	c.7687C>T	NM_001369268.1	NP_001356197.1:p.(Arg2563Cys)	NC_000015.9:g.89417692C>T	VUS	2 labs	284646497f
9:35808632 NPR2 C>T	9	35808632	35808632	C	T	NPR2	c.2839C>T	NM_003995.4	NP_003986.2:p.(Arg947Cys)	NC_000009.11:g.35808632C>T	VUS	2 labs	2848403fca
16:2142954 PKD1 C>A	16	2142954	2142954	C	A	PKD1	c.11156+1G>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2142954C>A	(Likely) pathogenic	2 labs	28bf7e236c
19:39057616 RYR1 G>A	19	39057616	39057616	G	A	RYR1	c.13503G>A	NM_000540.3	NP_000531.2:p.(Pro4501=)	NC_000019.9:g.39057616G>A	(Likely) benign	2 labs	28cb7691cc
12:112888212 PTPN11 G>C	12	112888212	112888212	G	C	PTPN11	c.228G>C	NM_002834.5	NP_002825.3:p.(Glu76Asp)	NC_000012.11:g.112888212G>C	(Likely) pathogenic	2 labs	28ffa47336
5:127637154 FBN2 C>T	5	127637154	127637154	C	T	FBN2	c.5966G>A	NM_001999.4	NP_001990.2:p.(Arg1989His)	NC_000005.9:g.127637154C>T	VUS	2 labs	29460d27b0
11:118369133 KMT2A A>G	11	118369133	118369133	A	G	KMT2A	c.5851A>G	NM_001197104.2	NP_001184033.1:p.(Thr1951Ala)	NC_000011.9:g.118369133A>G	VUS	2 labs	29955068b4
X:18671655 CDKL5 G>A	X	18671655	18671655	G	A	CDKL5	c.3084G>A	NM_003159.3	NP_003150.1:p.(Thr1028=)	NC_000023.10:g.18671655G>A	(Likely) benign	5 labs	1c5a0ea862
3:81584348 GBE1 C>T	3	81584348	81584348	C	T	GBE1	c.1932G>A	NM_000158.4	NP_000149.4:p.(Gly644=)	NC_000003.11:g.81584348C>T	(Likely) benign	2 labs	2a04bdadbb
2:28999729 PPP1CB G>A	2	28999729	28999729	G	A	PPP1CB	c.65G>A	NM_002709.3	NP_002700.1:p.(Arg22His)	NC_000002.11:g.28999729G>A	VUS	2 labs	1c5c0f32e5
19:16594899 CALR3 G>T	19	16594899	16594899	G	T	CALR3	c.520C>A	NM_145046.5	NP_659483.2:p.(Leu174Ile)	NC_000019.9:g.16594899G>T	VUS	3 labs	1c60167b8b
7:47925535 PKD1L1 G>A	7	47925535	47925535	G	A	PKD1L1	c.2954C>T	NM_138295.5	NP_612152.1:p.(Thr985Ile)	NC_000007.13:g.47925535G>A	(Likely) benign	2 labs	2a682caa46
22:29083961 CHEK2 C>A	22	29083961	29083961	C	A	CHEK2	c.1556G>T	NM_007194.4	NP_009125.1:p.(Arg519Leu)	NC_000022.10:g.29083961C>A	VUS	4 labs	1c632d7e1b
7:6022474 PMS2 G>A	7	6022474	6022474	G	A	PMS2	c.2155C>T	NM_000535.7	NP_000526.2:p.(Gln719Ter)	NC_000007.13:g.6022474G>A	(Likely) pathogenic	3 labs	2aab361cdc
1:17371320 SDHB G>A	1	17371320	17371320	G	A	SDHB	c.136C>T	NM_003000.3	NP_002991.2:p.(Arg46Ter)	NC_000001.10:g.17371320G>A	(Likely) pathogenic	2 labs	2abab25fe9
2:179315143 PRKRA A>ACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGG	2	179315143	179315144	A	ACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGG	PRKRA	c.27_28insCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAG	NM_001139517.1	NP_001132989.1:p.(Cys10ProfsTer27)	NC_000002.11:g.179315143_179315144insCTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGG	(Likely) benign	2 labs	1c633416a8
9:740769 KANK1 CTTTTT>C	9	740769	740787	CTTTTT	C	KANK1	c.3554-9_3554-5del	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740783_740787del	(Likely) benign	2 labs	1cc8c360ee
16:731512 STUB1 A>C	16	731512	731512	A	C	STUB1	c.433A>C	NM_005861.4	NP_005852.2:p.(Lys145Gln)	NC_000016.9:g.731512A>C	VUS	2 labs	2afebec26f
11:1954966 TNNT3 C>T	11	1954966	1954966	C	T	TNNT3	c.187C>T	NM_006757.4	NP_006748.1:p.(Arg63Cys)	NC_000011.9:g.1954966C>T	(Likely) pathogenic	2 labs	2b0985a204
5:1279531 TERT G>A	5	1279531	1279531	G	A	TERT	c.2005C>T	NM_198253.3	NP_937983.2:p.(Arg669Trp)	NC_000005.9:g.1279531G>A	VUS	2 labs	1c67e5f7c8
2:47639623 MSH2 A>G	2	47639623	47639623	A	G	MSH2	c.716A>G	NM_000251.3	NP_000242.1:p.(Gln239Arg)	NC_000002.11:g.47639623A>G	VUS	2 labs	1c6b3b158a
5:112163677 APC A>T	5	112163677	112163677	A	T	APC	c.1600A>T	NM_000038.6	NP_000029.2:p.(Lys534Ter)	NC_000005.9:g.112163677A>T	(Likely) pathogenic	2 labs	2b3e3c8fed
1:26138339 SELENON G>A	1	26138339	26138339	G	A	SELENON	c.1148G>A	NM_206926.2	NP_996809.1:p.(Arg383His)	NC_000001.10:g.26138339G>A	VUS	2 labs	2b3f610940
6:118880111 PLN C>T	6	118880111	118880111	C	T	PLN	c.27C>T	NM_002667.5	NP_002658.1:p.(Arg9=)	NC_000006.11:g.118880111C>T	(Likely) benign	3 labs	1c6ea74727
4:1803246 FGFR3 C>T	4	1803246	1803246	C	T	FGFR3	c.598C>T	NM_000142.5	NP_000133.1:p.(Arg200Cys)	NC_000004.11:g.1803246C>T	(Likely) pathogenic	2 labs	2b72695e26
17:62041012 SCN4A C>T	17	62041012	62041012	C	T	SCN4A	c.1606+20G>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62041012C>T	(Likely) benign	2 labs	1cd3e24cb4
5:180046344 FLT4 G>C	5	180046344	180046344	G	C	FLT4	c.2670C>G	NM_182925.5	NP_891555.2:p.(His890Gln)	NC_000005.9:g.180046344G>C	(Likely) benign	2 labs	1c70faef45
5:36976508 NIPBL AAAT>A	5	36976508	36976514	AAAT	A	NIPBL	c.1495+8_1495+10del	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.36976512_36976514del	(Likely) benign	3 labs	1c74c23a30
19:11101931 SMARCA4 C>T	19	11101931	11101931	C	T	SMARCA4	c.1351C>T	NM_003072.5	NP_003063.2:p.(Arg451Cys)	NC_000019.9:g.11101931C>T	(Likely) pathogenic	2 labs	2bbec45d3b
17:59761290 BRIP1 C>T	17	59761290	59761290	C	T	BRIP1	c.3117G>A	NM_032043.3	NP_114432.2:p.(Glu1039=)	NC_000017.10:g.59761290C>T	(Likely) benign	2 labs	2bf88281d9
1:237995832 RYR2 C>T	1	237995832	237995832	C	T	RYR2	c.14809-20C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237995832C>T	(Likely) benign	5 labs	1c7d741f0f
15:38591587 SPRED1 C>T	15	38591587	38591587	C	T	SPRED1	c.46C>T	NM_152594.3	NP_689807.1:p.(Arg16Ter)	NC_000015.9:g.38591587C>T	(Likely) pathogenic	2 labs	2c3e2f292d
20:62078208 KCNQ2 G>A	20	62078208	62078208	G	A	KCNQ2	c.297-18C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62078208G>A	(Likely) benign	2 labs	1c87d7a280
12:48379555 COL2A1 C>T	12	48379555	48379555	C	T	COL2A1	c.1636G>A	NM_001844.5	NP_001835.3:p.(Gly546Ser)	NC_000012.11:g.48379555C>T	(Likely) pathogenic	2 labs	2caa1c6cdb
13:32912560 BRCA2 G>A	13	32912560	32912560	G	A	BRCA2	c.4068G>A	NM_000059.4	NP_000050.3:p.(Leu1356=)	NC_000013.10:g.32912560G>A	(Likely) benign	7 labs	1c92f28d0b
19:42364847 RPS19 G>T	19	42364847	42364847	G	T	RPS19	c.3G>T	NM_001022.4	NP_001013.1:p.(Met1?)	NC_000019.9:g.42364847G>T	(Likely) pathogenic	2 labs	2d42663f7d
1:207646917 CR2 A>G	1	207646917	207646917	A	G	CR2	c.2006A>G	NM_001006658.3	NP_001006659.1:p.(His669Arg)	NC_000001.10:g.207646917A>G	VUS	2 labs	1c9fdceeba
19:36558712 WDR62 C>T	19	36558712	36558712	C	T	WDR62	c.700-18C>T	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36558712C>T	(Likely) benign	3 labs	1ca1f0249e
17:33427866 RAD51D C>T	17	33427866	33427866	C	T	RAD51D	c.*106G>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33427866C>T	(Likely) benign	2 labs	2d8b692b20
2:179583923 TTN G>C	2	179583923	179583923	G	C	TTN	c.20462C>G	NM_133378.4	NP_596869.4:p.(Ser6821Cys)	NC_000002.11:g.179583923G>C	VUS	2 labs	2da4faed20
1:22175189 HSPG2 G>A	1	22175189	22175189	G	A	HSPG2	c.7684C>T	NM_005529.7	NP_005520.4:p.(Pro2562Ser)	NC_000001.10:g.22175189G>A	VUS	2 labs	2dc28a4ac0
19:51857614 ETFB T>TG	19	51857614	51857619	T	TG	ETFB	c.278dup	NM_001014763.1	NP_001014763.1:p.(Pro94ThrfsTer8)	NC_000019.9:g.51857619dup	(Likely) benign	2 labs	1caf431b24
17:42949808 EFTUD2 G>A	17	42949808	42949808	G	A	EFTUD2	c.994+6C>T	NM_001258353.2	NP_001245282.1:p.?	NC_000017.10:g.42949808G>A	(Likely) benign	3 labs	1cb0ce60f7
12:80613613 OTOGL C>A	12	80613613	80613613	C	A	OTOGL	c.255C>A	NM_001378609.3	NP_001365538.2:p.(Cys85Ter)	NC_000012.11:g.80613613C>A	(Likely) pathogenic	2 labs	2de8232c6c
3:53700550 CACNA1D T>C	3	53700550	53700550	T	C	CACNA1D	c.1104T>C	NM_000720.4	NP_000711.1:p.(Asp368=)	NC_000003.11:g.53700550T>C	(Likely) benign	2 labs	1cb284d4ee
5:147491402 SPINK5 T>G	5	147491402	147491402	T	G	SPINK5	c.1764T>G	NM_001127698.2	NP_001121170.1:p.(Ile588Met)	NC_000005.9:g.147491402T>G	(Likely) benign	2 labs	33d701027a
10:90707010 ACTA2 C>A	10	90707010	90707010	C	A	ACTA2	c.258+5G>T	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90707010C>A	(Likely) benign	2 labs	2e3627df99
17:36104650 HNF1B C>A	17	36104650	36104650	C	A	HNF1B	c.226G>T	NM_000458.4	NP_000449.1:p.(Gly76Cys)	NC_000017.10:g.36104650C>A	(Likely) benign	2 labs	2e48835894
17:5456828 NLRP1 G>A	17	5456828	5456828	G	A	NLRP1	c.2406C>T	NM_033004.4	NP_127497.1:p.(Ser802=)	NC_000017.10:g.5456828G>A	(Likely) benign	2 labs	1d067cfbf0
1:227073305 PSEN2 C>T	1	227073305	227073305	C	T	PSEN2	c.423C>T	NM_000447.3	NP_000438.2:p.(Asn141=)	NC_000001.10:g.227073305C>T	(Likely) benign	2 labs	1cc02cd299
1:152280758 FLG C>T	1	152280758	152280758	C	T	FLG	c.6604G>A	NM_002016.2	NP_002007.1:p.(Gly2202Ser)	NC_000001.10:g.152280758C>T	(Likely) benign	2 labs	2ed664d75f
1:237957161 RYR2 A>G	1	237957161	237957161	A	G	RYR2	c.13783-6A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237957161A>G	(Likely) benign	4 labs	1cc85192a0
1:1469330 ATAD3A G>A	1	1469330	1469330	G	A	ATAD3A	c.1639G>A	NM_001170535.3	NP_001164006.1:p.(Gly547Arg)	NC_000001.10:g.1469330G>A	VUS	2 labs	1ccf3778db
16:21747639 OTOA G>T	16	21747639	21747639	G	T	OTOA	c.2359G>T	NM_144672.4	NP_653273.3:p.(Glu787Ter)	NC_000016.9:g.21747639G>T	(Likely) pathogenic	2 labs	2f3e4a498a
1:5924518 NPHP4 G>A	1	5924518	5924518	G	A	NPHP4	c.3876C>T	NM_015102.5	NP_055917.1:p.(Gly1292=)	NC_000001.10:g.5924518G>A	(Likely) benign	2 labs	2f5017c564
15:58302887 ALDH1A2 T>C	15	58302887	58302887	T	C	ALDH1A2	c.453A>G	NM_003888.4	NP_003879.2:p.(Ala151=)	NC_000015.9:g.58302887T>C	(Likely) benign	2 labs	2f5842730b
2:167134730 SCN9A T>C	2	167134730	167134730	T	C	SCN9A	c.2404A>G	NM_002977.3	NP_002968.1:p.(Ser802Gly)	NC_000002.11:g.167134730T>C	(Likely) benign	2 labs	1d2a58382c
9:94794767 SPTLC1 C>A	9	94794767	94794767	C	A	SPTLC1	c.937G>T	NM_001368273.1	NP_001355202.1:p.(Ala313Ser)	NC_000009.11:g.94794767C>A	(Likely) benign	2 labs	2f581609f2
19:39078032 RYR1 G>A	19	39078032	39078032	G	A	RYR1	c.15089G>A	NM_000540.3	NP_000531.2:p.(Arg5030His)	NC_000019.9:g.39078032G>A	VUS	2 labs	2f89cdb5ec
10:89624068 PTEN A>G	10	89624068	89624068	A	G	PTEN	c.-159A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624068A>G	VUS	2 labs	2fbb29c13a
5:145719452 POU4F3 C>G	5	145719452	145719452	C	G	POU4F3	c.462C>G	NM_002700.3	NP_002691.1:p.(His154Gln)	NC_000005.9:g.145719452C>G	(Likely) benign	2 labs	2fc383fbf7
8:55537454 RP1 C>T	8	55537454	55537454	C	T	RP1	c.1012C>T	NM_006269.2	NP_006260.1:p.(Arg338Ter)	NC_000008.10:g.55537454C>T	(Likely) pathogenic	2 labs	3024848647
10:89685307 PTEN T>C	10	89685307	89685307	T	C	PTEN	c.202T>C	NM_000314.8	NP_000305.3:p.(Tyr68His)	NC_000010.10:g.89685307T>C	(Likely) pathogenic	2 labs	304749090e
X:153592744 FLNA G>C	X	153592744	153592744	G	C	FLNA	c.2023-4C>G	NM_001456.4	NP_001447.2:p.?	NC_000023.10:g.153592744G>C	(Likely) benign	2 labs	1d450f9be2
11:119168156 CBL C>T	11	119168156	119168156	C	T	CBL	c.2216C>T	NM_005188.4	NP_005179.2:p.(Ser739Phe)	NC_000011.9:g.119168156C>T	(Likely) benign	2 labs	3098705b36
10:43609942 RET G>A	10	43609942	43609942	G	A	RET	c.1894G>A	NM_020975.6	NP_066124.1:p.(Glu632Lys)	NC_000010.10:g.43609942G>A	VUS	2 labs	30aea8014f
15:85342440 ZNF592 G>A	15	85342440	85342440	G	A	ZNF592	c.3136G>A	NM_014630.3	NP_055445.2:p.(Gly1046Arg)	NC_000015.9:g.85342440G>A	VUS	2 labs	30bc100b50
19:39212311 ACTN4 C>T	19	39212311	39212311	C	T	ACTN4	c.1425C>T	NM_004924.6	NP_004915.2:p.(Ala475=)	NC_000019.9:g.39212311C>T	(Likely) benign	2 labs	1d4dd95cc3
4:1807678 FGFR3 C>A	4	1807678	1807678	C	A	FGFR3	c.1836+11C>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807678C>A	(Likely) benign	2 labs	30f1c31b7a
12:115117337 TBX3 G>A	12	115117337	115117337	G	A	TBX3	c.777C>T	NM_005996.4	NP_005987.3:p.(Ile259=)	NC_000012.11:g.115117337G>A	(Likely) benign	2 labs	31143ea266
15:58838010 LIPC A>G	15	58838010	58838010	A	G	LIPC	c.644A>G	NM_000236.3	NP_000227.2:p.(Asn215Ser)	NC_000015.9:g.58838010A>G	(Likely) benign	2 labs	1cf1c860ec
17:18057215 MYO15A C>G	17	18057215	18057215	C	G	MYO15A	c.8088+5C>G	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18057215C>G	(Likely) benign	2 labs	1cf685ee84
10:61833170 ANK3 G>A	10	61833170	61833170	G	A	ANK3	c.7469C>T	NM_020987.5	NP_066267.2:p.(Pro2490Leu)	NC_000010.10:g.61833170G>A	VUS	2 labs	318c9deb55
2:15448384 NBAS G>A	2	15448384	15448384	G	A	NBAS	c.4753C>T	NM_015909.4	NP_056993.2:p.(Arg1585Ter)	NC_000002.11:g.15448384G>A	(Likely) pathogenic	2 labs	31b308ab29
1:11272478 MTOR T>C	1	11272478	11272478	T	C	MTOR	c.3452A>G	NM_004958.3	NP_004949.1:p.(Tyr1151Cys)	NC_000001.10:g.11272478T>C	(Likely) benign	2 labs	1d74ab3a5e
13:110827555 COL4A1 C>T	13	110827555	110827555	C	T	COL4A1	c.3198+10G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110827555C>T	(Likely) benign	2 labs	1d8d808bfc
2:166025323 SCN3A C>T	2	166025323	166025323	C	T	SCN3A	c.396G>A	NM_006922.4	NP_008853.3:p.(Met132Ile)	NC_000002.11:g.166025323C>T	VUS	2 labs	326393c853
1:1455979 ATAD3A G>C	1	1455979	1455979	G	C	ATAD3A	c.732G>C	NM_001170535.3	NP_001164006.1:p.(Trp244Cys)	NC_000001.10:g.1455979G>C	VUS	2 labs	1d0234e5d6
4:1808592 FGFR3 C>G	4	1808592	1808592	C	G	FGFR3	c.2205C>G	NM_000142.5	NP_000133.1:p.(Pro735=)	NC_000004.11:g.1808592C>G	(Likely) benign	2 labs	32bd684aef
6:43008398 CUL7 T>G	6	43008398	43008398	T	G	CUL7	c.3893A>C	NM_014780.5	NP_055595.2:p.(Asn1298Thr)	NC_000006.11:g.43008398T>G	(Likely) benign	1 lab	32c2f81a55
8:97172565 GDF6 T>C	8	97172565	97172565	T	C	GDF6	c.356A>G	NM_001001557.4	NP_001001557.1:p.(Gln119Arg)	NC_000008.10:g.97172565T>C	(Likely) benign	1 lab	32c38f5b79
18:47721135 MYO5B A>T	18	47721135	47721135	A	T	MYO5B	c.27+2T>A	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47721135A>T	(Likely) pathogenic	1 lab	1d980c1cb1
15:74368092 GOLGA6A C>T	15	74368092	74368092	C	T	GOLGA6A	c.691G>A	NM_001038640.2	NP_001033729.2:p.(Glu231Lys)	NC_000015.9:g.74368092C>T	(Likely) benign	1 lab	32c4740b5c
12:46233520 ARID2 T>C	12	46233520	46233520	T	C	ARID2	c.1498+241T>C	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46233520T>C	(Likely) benign	1 lab	32c565d357
X:153033154 PLXNB3 C>A	X	153033154	153033154	C	A	PLXNB3	c.872C>A	NM_005393.3	NP_005384.2:p.(Ala291Asp)	NC_000023.10:g.153033154C>A	VUS	1 lab	32c5a7b6a4
15:99459224 IGF1R AT>A	15	99459224	99459225	AT	A	IGF1R	c.1861del	NM_000875.5	NP_000866.1:p.(Ser621ArgfsTer7)	NC_000015.9:g.99459225del	VUS	1 lab	32c5eeed2b
1:230846380 AGT G>A	1	230846380	230846380	G	A	AGT	c.190C>T	NM_001384479.1	NP_001371408.1:p.(Gln64Ter)	NC_000001.10:g.230846380G>A	VUS	1 lab	32c632e56f
16:30974874 SETD1A C>T	16	30974874	30974874	C	T	SETD1A	c.638C>T	NM_014712.3	NP_055527.1:p.(Thr213Met)	NC_000016.9:g.30974874C>T	VUS	1 lab	32c861aadb
15:85342381 ZNF592 A>G	15	85342381	85342381	A	G	ZNF592	c.3077A>G	NM_014630.3	NP_055445.2:p.(Asn1026Ser)	NC_000015.9:g.85342381A>G	VUS	1 lab	32c956a931
7:45108178 CCM2 GGTGAGACTT>G	7	45108178	45108187	GGTGAGACTT	G	CCM2	c.609+1_609+9del	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45108179_45108187del	(Likely) pathogenic	1 lab	1d9bd247f1
16:77325276 ADAMTS18 G>A	16	77325276	77325276	G	A	ADAMTS18	c.3289C>T	NM_199355.4	NP_955387.1:p.(Arg1097Cys)	NC_000016.9:g.77325276G>A	(Likely) benign	1 lab	32cb692d8a
17:78078883 GAA C>G	17	78078883	78078883	C	G	GAA	c.498C>G	NM_000152.5	NP_000143.2:p.(Thr166=)	NC_000017.10:g.78078883C>G	(Likely) benign	1 lab	32cc8bfe37
10:78761473 KCNMA1 A>G	10	78761473	78761473	A	G	KCNMA1	c.2104+10252T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78761473A>G	(Likely) benign	1 lab	1da15e9310
4:1801457 FGFR3 C>T	4	1801457	1801457	C	T	FGFR3	c.380-17C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1801457C>T	(Likely) benign	1 lab	32ccd4a05c
22:42607203 TCF20 G>A	22	42607203	42607203	G	A	TCF20	c.4109C>T	NM_001378418.1	NP_001365347.1:p.(Ser1370Leu)	NC_000022.10:g.42607203G>A	(Likely) benign	1 lab	32cd3b38f8
6:146480740 GRM1 TTC>T	6	146480740	146480778	TTC	T	GRM1	c.950+44_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480777_146480778del	(Likely) benign	1 lab	32ce3b2005
5:127710362 FBN2 G>T	5	127710362	127710362	G	T	FBN2	c.2054C>A	NM_001999.4	NP_001990.2:p.(Pro685His)	NC_000005.9:g.127710362G>T	(Likely) benign	1 lab	32cee73d28
16:84115500 MBTPS1 G>A	16	84115500	84115500	G	A	MBTPS1	c.1300C>T	NM_003791.4	NP_003782.1:p.(Arg434Cys)	NC_000016.9:g.84115500G>A	VUS	1 lab	32cf890f9f
16:89985913 MC1R T>C	16	89985913	89985913	T	C	MC1R	c.247T>C	NM_002386.4	NP_002377.4:p.(Ser83Pro)	NC_000016.9:g.89985913T>C	VUS	1 lab	32cfb0c5b8
11:17496444 ABCC8 G>T	11	17496444	17496444	G	T	ABCC8	c.279C>A	NM_000352.6	NP_000343.2:p.(Ile93=)	NC_000011.9:g.17496444G>T	(Likely) benign	1 lab	32d0bda6b4
7:103294625 RELN T>G	7	103294625	103294625	T	G	RELN	c.1469A>C	NM_005045.4	NP_005036.2:p.(His490Pro)	NC_000007.13:g.103294625T>G	VUS	1 lab	1d027a1101
10:18828324 CACNB2 C>T	10	18828324	18828324	C	T	CACNB2	c.1654C>T	NM_201596.3	NP_963890.2:p.(Gln552Ter)	NC_000010.10:g.18828324C>T	VUS	1 lab	32d491d632
17:29654706 NF1 A>G	17	29654706	29654706	A	G	NF1	c.5458A>G	NM_001042492.3	NP_001035957.1:p.(Ile1820Val)	NC_000017.10:g.29654706A>G	VUS	1 lab	32d4d04ab2
X:53263664 IQSEC2 C>G	X	53263664	53263664	C	G	IQSEC2	c.4204G>C	NM_001111125.3	NP_001104595.1:p.(Ala1402Pro)	NC_000023.10:g.53263664C>G	(Likely) benign	1 lab	32d4e4d1b9
4:6303353 WFS1 C>T	4	6303353	6303353	C	T	WFS1	c.1831C>T	NM_006005.3	NP_005996.2:p.(Arg611Cys)	NC_000004.11:g.6303353C>T	VUS	1 lab	32d4e702f7
X:63412690 AMER1 A>C	X	63412690	63412690	A	C	AMER1	c.477T>G	NM_152424.4	NP_689637.3:p.(Phe159Leu)	NC_000023.10:g.63412690A>C	(Likely) benign	1 lab	32d65c7076
15:89379442 ACAN C>T	15	89379442	89379442	C	T	ACAN	c.5C>T	NM_001369268.1	NP_001356197.1:p.(Thr2Ile)	NC_000015.9:g.89379442C>T	VUS	1 lab	32d81c9993
5:74683216 CERT1 T>C	5	74683216	74683216	T	C	CERT1	c.1285-1357A>G	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74683216T>C	(Likely) benign	1 lab	32d85f7000
8:27957415 ELP3 G>A	8	27957415	27957415	G	A	ELP3	c.190G>A	NM_018091.6	NP_060561.3:p.(Val64Ile)	NC_000008.10:g.27957415G>A	VUS	1 lab	32d8c6df39
1:152276777 FLG G>A	1	152276777	152276777	G	A	FLG	c.10585C>T	NM_002016.2	NP_002007.1:p.(Pro3529Ser)	NC_000001.10:g.152276777G>A	(Likely) benign	1 lab	32daa81253
6:74516767 CD109 C>G	6	74516767	74516767	C	G	CD109	c.3161C>G	NM_133493.5	NP_598000.2:p.(Thr1054Ser)	NC_000006.11:g.74516767C>G	VUS	1 lab	32dba9cee2
1:92752112 GLMN G>A	1	92752112	92752112	G	A	GLMN	c.670C>T	NM_053274.3	NP_444504.1:p.(Gln224Ter)	NC_000001.10:g.92752112G>A	VUS	1 lab	32dd64e8f4
17:62048533 SCN4A G>A	17	62048533	62048533	G	A	SCN4A	c.692C>T	NM_000334.4	NP_000325.4:p.(Thr231Met)	NC_000017.10:g.62048533G>A	(Likely) pathogenic	1 lab	32e05490fa
12:103238149 PAH C>T	12	103238149	103238149	C	T	PAH	c.1030G>A	NM_000277.3	NP_000268.1:p.(Gly344Ser)	NC_000012.11:g.103238149C>T	(Likely) pathogenic	1 lab	1da26efa8f
5:149500867 PDGFRB C>T	5	149500867	149500867	C	T	PDGFRB	c.2363G>A	NM_002609.4	NP_002600.1:p.(Arg788Gln)	NC_000005.9:g.149500867C>T	(Likely) benign	1 lab	32e145409d
5:127782302 FBN2 G>A	5	127782302	127782302	G	A	FBN2	c.827-3C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782302G>A	(Likely) benign	1 lab	32e1b988ff
18:9122581 NDUFV2 G>C	18	9122581	9122581	G	C	NDUFV2	c.371G>C	NM_021074.5	NP_066552.2:p.(Arg124Pro)	NC_000018.9:g.9122581G>C	VUS	1 lab	32e322ac9a
6:32609308 HLA-DQA1 C>A	6	32609308	32609308	C	A	HLA-DQA1	c.304C>A	NM_002122.5	NP_002113.2:p.(Arg102Ser)	NC_000006.11:g.32609308C>A	VUS	1 lab	32e34f4ba1
11:125484215 STT3A C>T	11	125484215	125484215	C	T	STT3A	c.1672-4C>T	NM_152713.5	NP_689926.1:p.?	NC_000011.9:g.125484215C>T	(Likely) benign	1 lab	32e3fecbd5
X:54497129 FGD1 A>T	X	54497129	54497129	A	T	FGD1	c.546T>A	NM_004463.3	NP_004454.2:p.(Pro182=)	NC_000023.10:g.54497129A>T	(Likely) benign	1 lab	1da3a32c1d
16:88889081 GALNS A>C	16	88889081	88889081	A	C	GALNS	c.1280T>G	NM_000512.5	NP_000503.1:p.(Val427Gly)	NC_000016.9:g.88889081A>C	VUS	1 lab	32e4563832
12:113821964 PLBD2 C>T	12	113821964	113821964	C	T	PLBD2	c.1012C>T	NM_173542.4	NP_775813.2:p.(Arg338Trp)	NC_000012.11:g.113821964C>T	(Likely) benign	1 lab	32e63a7bd4
2:33172425 LTBP1 C>T	2	33172425	33172425	C	T	LTBP1	c.34C>T	NM_206943.4	NP_996826.3:p.(Leu12Phe)	NC_000002.11:g.33172425C>T	(Likely) benign	1 lab	32e6848eac
4:3494664 DOK7 A>AC	4	3494664	3494670	A	AC	DOK7	c.957dup	NM_173660.5	NP_775931.3:p.(Lys320GlnfsTer49)	NC_000004.11:g.3494670dup	(Likely) pathogenic	1 lab	32e6d631c2
17:78185882 SGSH C>T	17	78185882	78185882	C	T	SGSH	c.937G>A	NM_000199.5	NP_000190.1:p.(Val313Met)	NC_000017.10:g.78185882C>T	VUS	1 lab	32e6d96b6c
X:135570316 BRS3 T>A	X	135570316	135570316	T	A	BRS3	c.43T>A	NM_001727.2	NP_001718.1:p.(Ser15Thr)	NC_000023.10:g.135570316T>A	(Likely) benign	1 lab	32e770a99f
10:76737101 KAT6B A>T	10	76737101	76737101	A	T	KAT6B	c.2021A>T	NM_012330.4	NP_036462.2:p.(Gln674Leu)	NC_000010.10:g.76737101A>T	(Likely) benign	1 lab	32e7c153f2
11:67926308 KMT5B G>C	11	67926308	67926308	G	C	KMT5B	c.1505C>G	NM_017635.5	NP_060105.3:p.(Ala502Gly)	NC_000011.9:g.67926308G>C	VUS	1 lab	32ebb34a87
5:36219774 NADK2 C>T	5	36219774	36219774	C	T	NADK2	c.568G>A	NM_001085411.3	NP_001078880.1:p.(Gly190Ser)	NC_000005.9:g.36219774C>T	VUS	1 lab	32ed24e2ac
12:66849248 GRIP1 G>A	12	66849248	66849248	G	A	GRIP1	c.1139C>T	NM_021150.4	NP_066973.2:p.(Thr380Ile)	NC_000012.11:g.66849248G>A	(Likely) benign	1 lab	1da6901758
16:89341500 ANKRD11 C>T	16	89341500	89341500	C	T	ANKRD11	c.7569+1G>A	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89341500C>T	(Likely) pathogenic	1 lab	32ee6334aa
1:120471785 NOTCH2 G>A	1	120471785	120471785	G	A	NOTCH2	c.3706C>T	NM_024408.4	NP_077719.2:p.(Leu1236Phe)	NC_000001.10:g.120471785G>A	(Likely) benign	1 lab	32ef4c9feb
9:2650396 VLDLR G>A	9	2650396	2650396	G	A	VLDLR	c.2131G>A	NM_003383.5	NP_003374.3:p.(Glu711Lys)	NC_000009.11:g.2650396G>A	(Likely) benign	1 lab	32ef8f655a
12:49426328 KMT2D T>G	12	49426328	49426328	T	G	KMT2D	c.12160A>C	NM_003482.4	NP_003473.3:p.(Thr4054Pro)	NC_000012.11:g.49426328T>G	VUS	1 lab	32f14b677e
12:50748127 FAM186A C>T	12	50748127	50748127	C	T	FAM186A	c.2488G>A	NM_001145475.3	NP_001138947.1:p.(Gly830Ser)	NC_000012.11:g.50748127C>T	(Likely) benign	1 lab	32f1836537
10:112360240 SMC3 T>C	10	112360240	112360240	T	C	SMC3	c.2471T>C	NM_005445.4	NP_005436.1:p.(Ile824Thr)	NC_000010.10:g.112360240T>C	VUS	1 lab	32f2881075
11:47469420 RAPSN C>T	11	47469420	47469420	C	T	RAPSN	c.475G>A	NM_005055.5	NP_005046.2:p.(Ala159Thr)	NC_000011.9:g.47469420C>T	(Likely) benign	1 lab	32f2ad9863
1:99161110 SNX7 C>G	1	99161110	99161110	C	G	SNX7	c.676C>G	NM_015976.5	NP_057060.2:p.(Leu226Val)	NC_000001.10:g.99161110C>G	VUS	1 lab	32f670d779
6:33402981 SYNGAP1 AGTCCTAGCAGTGCAGCTGAG>A	6	33402981	33403002	AGTCCTAGCAGTGCAGCTGAG	A	SYNGAP1	c.564_583del	NM_006772.3	NP_006763.2:p.(Pro189IlefsTer7)	NC_000006.11:g.33402983_33403002del	(Likely) pathogenic	1 lab	32f685be26
16:56309851 GNAO1 A>G	16	56309851	56309851	A	G	GNAO1	c.170A>G	NM_020988.3	NP_066268.1:p.(His57Arg)	NC_000016.9:g.56309851A>G	VUS	1 lab	32f910ec57
2:109380282 RANBP2 G>A	2	109380282	109380282	G	A	RANBP2	c.3287G>A	NM_006267.5	NP_006258.3:p.(Arg1096Gln)	NC_000002.11:g.109380282G>A	(Likely) benign	1 lab	32f97db104
14:51057693 ATL1 C>T	14	51057693	51057693	C	T	ATL1	c.317C>T	NM_015915.5	NP_056999.2:p.(Pro106Leu)	NC_000014.8:g.51057693C>T	VUS	1 lab	3345a7f6f4
X:123184949 STAG2 CT>C	X	123184949	123184968	CT	C	STAG2	c.1018-3del	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123184968del	(Likely) benign	1 lab	32fa847cc2
4:1952911 NSD2 A>G	4	1952911	1952911	A	G	NSD2	c.1994A>G	NM_001042424.3	NP_001035889.1:p.(Lys665Arg)	NC_000004.11:g.1952911A>G	(Likely) benign	1 lab	32fab3d17a
19:31769237 TSHZ3 T>C	19	31769237	31769237	T	C	TSHZ3	c.1462A>G	NM_020856.4	NP_065907.2:p.(Lys488Glu)	NC_000019.9:g.31769237T>C	VUS	1 lab	32fc1ebcf5
3:126201324 UROC1 G>A	3	126201324	126201324	G	A	UROC1	c.2075C>T	NM_001165974.2	NP_001159446.1:p.(Ala692Val)	NC_000003.11:g.126201324G>A	VUS	1 lab	1d07140950
14:23522909 CDH24 G>A	14	23522909	23522909	G	A	CDH24	c.1022C>T	NM_144985.4	NP_659422.2:p.(Thr341Ile)	NC_000014.8:g.23522909G>A	(Likely) benign	1 lab	32fca4ee87
17:63533609 AXIN2 G>A	17	63533609	63533609	G	A	AXIN2	c.1545C>T	NM_004655.4	NP_004646.3:p.(His515=)	NC_000017.10:g.63533609G>A	(Likely) benign	1 lab	32fce6bfd9
16:1815149 MAPK8IP3 G>A	16	1815149	1815149	G	A	MAPK8IP3	c.2416G>A	NM_001318852.2	NP_001305781.1:p.(Ala806Thr)	NC_000016.9:g.1815149G>A	VUS	1 lab	32fe341d2f
4:88959622 PKD2 AG>A	4	88959622	88959625	AG	A	PKD2	c.1066del	NM_000297.4	NP_000288.1:p.(Ala356LeufsTer19)	NC_000004.11:g.88959625del	(Likely) pathogenic	1 lab	32fe708703
1:120473725 NOTCH2 TAA>T	1	120473725	120473743	TAA	T	NOTCH2	c.3656-1892_3656-1891del	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120473742_120473743del	(Likely) benign	1 lab	32fe8a17a8
12:116457208 MED13L C>T	12	116457208	116457208	C	T	MED13L	c.830G>A	NM_015335.5	NP_056150.1:p.(Arg277Gln)	NC_000012.11:g.116457208C>T	VUS	1 lab	32feabb792
11:533505 HRAS A>T	11	533505	533505	A	T	HRAS	c.398T>A	NM_005343.4	NP_005334.1:p.(Leu133His)	NC_000011.9:g.533505A>T	VUS	1 lab	32ff9d1351
20:43851927 SEMG2 G>C	20	43851927	43851927	G	C	SEMG2	c.1654G>C	NM_003008.3	NP_002999.1:p.(Glu552Gln)	NC_000020.10:g.43851927G>C	VUS	1 lab	3305cb1740
X:14863185 FANCB A>T	X	14863185	14863185	A	T	FANCB	c.1720T>A	NM_001018113.3	NP_001018123.1:p.(Cys574Ser)	NC_000023.10:g.14863185A>T	(Likely) benign	1 lab	3309c3f75d
12:22676470 C2CD5 G>A	12	22676470	22676470	G	A	C2CD5	c.690C>T	NM_001286176.2	NP_001273105.1:p.(Gly230=)	NC_000012.11:g.22676470G>A	VUS	1 lab	330aaf3277
7:16348242 CRPPA T>C	7	16348242	16348242	T	C	CRPPA	c.695A>G	NM_001101426.4	NP_001094896.1:p.(Tyr232Cys)	NC_000007.13:g.16348242T>C	VUS	1 lab	330e4f4c44
2:152684897 ARL5A A>G	2	152684897	152684897	A	G	ARL5A	c.-207T>C	NM_012097.4	NP_036229.1:p.?	NC_000002.11:g.152684897A>G	(Likely) benign	1 lab	330e94bdf8
10:76788574 KAT6B C>G	10	76788574	76788574	C	G	KAT6B	c.3992C>G	NM_012330.4	NP_036462.2:p.(Ala1331Gly)	NC_000010.10:g.76788574C>G	(Likely) benign	1 lab	331459314d
2:182543133 NEUROD1 G>A	2	182543133	182543133	G	A	NEUROD1	c.455C>T	NM_002500.5	NP_002491.3:p.(Ala152Val)	NC_000002.11:g.182543133G>A	VUS	1 lab	3314b7d076
21:45523258 TRAPPC10 G>A	21	45523258	45523258	G	A	TRAPPC10	c.3626G>A	NM_003274.5	NP_003265.3:p.(Ser1209Asn)	NC_000021.8:g.45523258G>A	(Likely) benign	1 lab	33167c62f3
11:66611335 RCE1 G>A	11	66611335	66611335	G	A	RCE1	c.288+3G>A	NM_005133.3	NP_005124.1:p.?	NC_000011.9:g.66611335G>A	VUS	1 lab	331822aa20
17:18544967 TBC1D28 G>A	17	18544967	18544967	G	A	TBC1D28	c.-24C>T	NM_001039397.3	NP_001034486.2:p.?	NC_000017.10:g.18544967G>A	(Likely) benign	1 lab	331878877d
17:64876773 CACNG5 C>T	17	64876773	64876773	C	T	CACNG5	c.383C>T	NM_145811.3	NP_665810.1:p.(Thr128Met)	NC_000017.10:g.64876773C>T	VUS	1 lab	33190b4e0f
1:109270523 FNDC7 A>G	1	109270523	109270523	A	G	FNDC7	c.1205A>G	NM_001144937.3	NP_001138409.1:p.(Glu402Gly)	NC_000001.10:g.109270523A>G	VUS	1 lab	331a260326
17:40497611 STAT3 G>A	17	40497611	40497611	G	A	STAT3	c.338C>T	NM_139276.3	NP_644805.1:p.(Ser113Leu)	NC_000017.10:g.40497611G>A	VUS	1 lab	331c7acf31
X:114425317 RBMXL3 G>A	X	114425317	114425317	G	A	RBMXL3	c.1313G>A	NM_001145346.2	NP_001138818.1:p.(Arg438His)	NC_000023.10:g.114425317G>A	(Likely) benign	1 lab	331ffc69b8
19:42489195 ATP1A3 C>T	19	42489195	42489195	C	T	ATP1A3	c.868G>A	NM_152296.5	NP_689509.1:p.(Val290Ile)	NC_000019.9:g.42489195C>T	VUS	1 lab	33201d2b34
4:56890680 CEP135 C>G	4	56890680	56890680	C	G	CEP135	c.3334C>G	NM_025009.5	NP_079285.2:p.(Gln1112Glu)	NC_000004.11:g.56890680C>G	(Likely) benign	1 lab	3320f749af
16:87723569 JPH3 C>T	16	87723569	87723569	C	T	JPH3	c.1603C>T	NM_020655.4	NP_065706.2:p.(Gln535Ter)	NC_000016.9:g.87723569C>T	VUS	1 lab	33211703e5
19:15285201 NOTCH3 C>A	19	15285201	15285201	C	A	NOTCH3	c.4414G>T	NM_000435.3	NP_000426.2:p.(Glu1472Ter)	NC_000019.9:g.15285201C>A	(Likely) pathogenic	1 lab	3321fb6063
X:152083076 ZNF185 T>C	X	152083076	152083076	T	C	ZNF185	c.34+9T>C	NM_001395254.1	NP_001382183.1:p.?	NC_000023.10:g.152083076T>C	(Likely) benign	1 lab	3322e0b7cd
X:40511114 MED14 C>G	X	40511114	40511114	C	G	MED14	c.4309G>C	NM_004229.4	NP_004220.2:p.(Ala1437Pro)	NC_000023.10:g.40511114C>G	(Likely) benign	1 lab	332335dd20
1:12034830 PLOD1 A>C	1	12034830	12034830	A	C	PLOD1	c.2149A>C	NM_000302.4	NP_000293.2:p.(Thr717Pro)	NC_000001.10:g.12034830A>C	VUS	1 lab	3326900f6b
3:64644329 ADAMTS9 G>A	3	64644329	64644329	G	A	ADAMTS9	c.818C>T	NM_182920.2	NP_891550.1:p.(Thr273Met)	NC_000003.11:g.64644329G>A	VUS	1 lab	3327163944
1:183105540 LAMC1 C>G	1	183105540	183105540	C	G	LAMC1	c.4134C>G	NM_002293.4	NP_002284.3:p.(Asn1378Lys)	NC_000001.10:g.183105540C>G	(Likely) benign	1 lab	3327741e8d
15:93448063 CHD2 A>G	15	93448063	93448063	A	G	CHD2	c.62+3534A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93448063A>G	(Likely) benign	1 lab	1daad157fd
13:94197657 GPC6 G>T	13	94197657	94197657	G	T	GPC6	c.302G>T	NM_005708.5	NP_005699.1:p.(Arg101Met)	NC_000013.10:g.94197657G>T	VUS	1 lab	3329af3597
16:70731129 VAC14 C>T	16	70731129	70731129	C	T	VAC14	c.1868G>A	NM_018052.5	NP_060522.3:p.(Arg623His)	NC_000016.9:g.70731129C>T	VUS	1 lab	332b075856
3:58145372 FLNB C>T	3	58145372	58145372	C	T	FLNB	c.6980C>T	NM_001457.4	NP_001448.2:p.(Ser2327Phe)	NC_000003.11:g.58145372C>T	VUS	1 lab	332b6edad0
X:24382434 SUPT20HL1 TCCTGCTCTA>T	X	24382434	24382443	TCCTGCTCTA	T	SUPT20HL1	c.1558_1566del	NM_001136234.3	NP_001129706.3:p.(Pro520_Leu522del)	NC_000023.10:g.24382435_24382443del	VUS	1 lab	332d0635fb
13:48575398 SUCLA2 G>A	13	48575398	48575398	G	A	SUCLA2	c.8C>T	NM_003850.3	NP_003841.1:p.(Ala3Val)	NC_000013.10:g.48575398G>A	(Likely) benign	1 lab	332db940cb
4:25676182 SLC34A2 C>T	4	25676182	25676182	C	T	SLC34A2	c.1389C>T	NM_006424.3	NP_006415.3:p.(Ile463=)	NC_000004.11:g.25676182C>T	(Likely) benign	1 lab	332e6d9e6d
7:114304485 FOXP2 C>T	7	114304485	114304485	C	T	FOXP2	c.1997C>T	NM_014491.4	NP_055306.1:p.(Pro666Leu)	NC_000007.13:g.114304485C>T	VUS	1 lab	1d0824e43a
X:12734299 FRMPD4 A>C	X	12734299	12734299	A	C	FRMPD4	c.1721A>C	NM_001368397.1	NP_001355326.1:p.(Asp574Ala)	NC_000023.10:g.12734299A>C	VUS	1 lab	332edb0cff
2:152581963 NEB C>T	2	152581963	152581963	C	T	NEB	c.402+4G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152581963C>T	(Likely) benign	1 lab	332f45879f
8:61774838 CHD7 A>C	8	61774838	61774838	A	C	CHD7				NC_000008.10:g.61774838A>C	(Likely) benign	1 lab	1daf462b1f
X:99941145 SYTL4 C>G	X	99941145	99941145	C	G	SYTL4	c.1291G>C	NM_001370165.1	NP_001357094.1:p.(Glu431Gln)	NC_000023.10:g.99941145C>G	VUS	1 lab	333938f134
18:19321760 MIB1 C>T	18	19321760	19321760	C	T	MIB1	c.216C>T	NM_020774.3	NP_065825.1:p.(Asp72=)	NC_000018.9:g.19321760C>T	(Likely) benign	1 lab	1db1a040ab
2:238247710 COL6A3 A>T	2	238247710	238247710	A	T	COL6A3	c.8515T>A	NM_004369.4	NP_004360.2:p.(Phe2839Ile)	NC_000002.11:g.238247710A>T	(Likely) benign	1 lab	333992784b
10:73405596 CDH23 C>A	10	73405596	73405596	C	A	CDH23	c.1149C>A	NM_022124.6	NP_071407.4:p.(Asn383Lys)	NC_000010.10:g.73405596C>A	VUS	1 lab	333a5d16dc
1:152284165 FLG G>T	1	152284165	152284165	G	T	FLG	c.3197C>A	NM_002016.2	NP_002007.1:p.(Ser1066Tyr)	NC_000001.10:g.152284165G>T	(Likely) benign	1 lab	333af876f3
11:17482073 ABCC8 C>A	11	17482073	17482073	C	A	ABCC8	c.973G>T	NM_000352.6	NP_000343.2:p.(Asp325Tyr)	NC_000011.9:g.17482073C>A	(Likely) benign	1 lab	333b5bde90
7:151273529 PRKAG2 C>T	7	151273529	151273529	C	T	PRKAG2	c.874G>A	NM_016203.4	NP_057287.2:p.(Ala292Thr)	NC_000007.13:g.151273529C>T	VUS	1 lab	1d0ac74aa5
1:66037973 LEPR G>GTTTTT	1	66037973	66038000	G	GTTTTT	LEPR	c.371-13_371-9dup	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66037996_66038000dup	VUS	1 lab	333d30fece
19:55329851 KIR3DL1 A>G	19	55329851	55329851	A	G	KIR3DL1	c.152A>G	NM_013289.4	NP_037421.2:p.(Tyr51Cys)	NC_000019.9:g.55329851A>G	(Likely) benign	1 lab	33402c0eb4
1:87043729 CLCA4 C>T	1	87043729	87043729	C	T	CLCA4	c.2096C>T	NM_012128.4	NP_036260.2:p.(Ala699Val)	NC_000001.10:g.87043729C>T	VUS	1 lab	33413c13a0
X:11160433 ARHGAP6 T>A	X	11160433	11160433	T	A	ARHGAP6	c.2177A>T	NM_013427.3	NP_038286.2:p.(Asp726Val)	NC_000023.10:g.11160433T>A	VUS	1 lab	33414a7261
1:120459037 NOTCH2 G>T	1	120459037	120459037	G	T	NOTCH2	c.6308C>A	NM_024408.4	NP_077719.2:p.(Ser2103Tyr)	NC_000001.10:g.120459037G>T	VUS	1 lab	33417305b6
19:56539284 NLRP5 G>A	19	56539284	56539284	G	A	NLRP5	c.1685G>A	NM_153447.4	NP_703148.4:p.(Arg562His)	NC_000019.9:g.56539284G>A	(Likely) benign	1 lab	3344e3da94
18:2554991 METTL4 C>A	18	2554991	2554991	C	A	METTL4	c.506G>T	NM_022840.5	NP_073751.3:p.(Gly169Val)	NC_000018.9:g.2554991C>A	VUS	1 lab	3344f4de21
20:62839592 MYT1 C>T	20	62839592	62839592	C	T	MYT1	c.1043C>T	NM_004535.3	NP_004526.1:p.(Ser348Leu)	NC_000020.10:g.62839592C>T	VUS	1 lab	3344fed7f8
12:9256828 A2M A>G	12	9256828	9256828	A	G	A2M	c.1266+7T>C	NM_000014.6	NP_000005.3:p.?	NC_000012.11:g.9256828A>G	(Likely) benign	1 lab	33459452d0
X:130416523 IGSF1 T>G	X	130416523	130416523	T	G	IGSF1	c.1141A>C	NM_001555.5	NP_001546.2:p.(Asn381His)	NC_000023.10:g.130416523T>G	(Likely) benign	1 lab	3346368761
2:179616722 TTN G>A	2	179616722	179616722	G	A	TTN	c.11311+1129C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616722G>A	VUS	1 lab	334757c251
X:48839722 GRIPAP1 C>T	X	48839722	48839722	C	T	GRIPAP1	c.1403G>A	NM_020137.5	NP_064522.4:p.(Arg468His)	NC_000023.10:g.48839722C>T	VUS	1 lab	3347c4b14e
21:30419319 USP16 C>T	21	30419319	30419319	C	T	USP16	c.1688C>T	NM_006447.3	NP_006438.1:p.(Thr563Met)	NC_000021.8:g.30419319C>T	VUS	1 lab	334837f406
1:22200998 HSPG2 C>T	1	22200998	22200998	C	T	HSPG2	c.3557G>A	NM_005529.7	NP_005520.4:p.(Arg1186Gln)	NC_000001.10:g.22200998C>T	(Likely) benign	1 lab	334871546a
3:50339969 HYAL1 T>C	3	50339969	50339969	T	C	HYAL1	c.419A>G	NM_033159.4	NP_149349.2:p.(Asn140Ser)	NC_000003.11:g.50339969T>C	(Likely) benign	1 lab	334a00c32a
2:179410298 TTN G>A	2	179410298	179410298	G	A	TTN	c.95539C>T	NM_001267550.2	NP_001254479.2:p.(Arg31847Cys)	NC_000002.11:g.179410298G>A	VUS	1 lab	334a2f2364
12:49951288 KCNH3 T>A	12	49951288	49951288	T	A	KCNH3	c.2804T>A	NM_012284.3	NP_036416.1:p.(Leu935Gln)	NC_000012.11:g.49951288T>A	(Likely) benign	1 lab	334b1215b2
22:40706937 TNRC6B GC>G	22	40706937	40706939	GC	G	TNRC6B	c.4377del	NM_001162501.2	NP_001155973.1:p.(Lys1460AsnfsTer56)	NC_000022.10:g.40706939del	(Likely) pathogenic	1 lab	334ba0d703
19:40367664 FCGBP C>G	19	40367664	40367664	C	G	FCGBP	c.13296G>C	NM_003890.3	NP_003881.2:p.(Gln4432His)	NC_000019.9:g.40367664C>G	(Likely) benign	1 lab	334d624855
6:151107576 PLEKHG1 C>G	6	151107576	151107576	C	G	PLEKHG1	c.563C>G	NM_001029884.3	NP_001025055.1:p.(Ala188Gly)	NC_000006.11:g.151107576C>G	VUS	1 lab	334eb0e992
1:2528017 MMEL1 C>T	1	2528017	2528017	C	T	MMEL1	c.1384G>A	NM_033467.4	NP_258428.2:p.(Gly462Arg)	NC_000001.10:g.2528017C>T	VUS	1 lab	33505a5e09
1:100843122 CDC14A C>T	1	100843122	100843122	C	T	CDC14A	c.161C>T	NM_003672.4	NP_003663.2:p.(Pro54Leu)	NC_000001.10:g.100843122C>T	VUS	1 lab	3351b187f1
1:226026352 EPHX1 C>A	1	226026352	226026352	C	A	EPHX1	c.365-3C>A	NM_001136018.4	NP_001129490.1:p.?	NC_000001.10:g.226026352C>A	(Likely) benign	1 lab	33526db496
20:44672559 SLC12A5 G>A	20	44672559	44672559	G	A	SLC12A5	c.1381G>A	NM_020708.5	NP_065759.1:p.(Val461Ile)	NC_000020.10:g.44672559G>A	VUS	1 lab	3353785fee
20:19955598 RIN2 G>C	20	19955598	19955598	G	C	RIN2	c.929G>C	NM_018993.4	NP_061866.1:p.(Arg310Thr)	NC_000020.10:g.19955598G>C	(Likely) benign	1 lab	3355723056
16:4385125 GLIS2 C>T	16	4385125	4385125	C	T	GLIS2	c.587C>T	NM_032575.3	NP_115964.2:p.(Pro196Leu)	NC_000016.9:g.4385125C>T	VUS	1 lab	3355cf36f5
10:123285668 FGFR2 C>A	10	123285668	123285668	C	A	FGFR2	c.749-5985G>T	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123285668C>A	(Likely) benign	1 lab	3359bd15f9
9:26886114 CAAP1 T>G	9	26886114	26886114	T	G	CAAP1	c.577A>C	NM_024828.4	NP_079104.3:p.(Lys193Gln)	NC_000009.11:g.26886114T>G	VUS	1 lab	3359f47a3c
17:38449694 CDC6 ATT>A	17	38449694	38449703	ATT	A	CDC6	c.661-6_661-5del	NM_001254.4	NP_001245.1:p.?	NC_000017.10:g.38449702_38449703del	(Likely) benign	1 lab	335a69383d
8:145731287 GPT C>G	8	145731287	145731287	C	G	GPT	c.796C>G	NM_005309.3	NP_005300.1:p.(Arg266Gly)	NC_000008.10:g.145731287C>G	VUS	1 lab	335ac1c9a8
10:94393373 KIF11 G>C	10	94393373	94393373	G	C	KIF11	c.1703-7G>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94393373G>C	(Likely) benign	1 lab	335b74523d
20:20269586 CFAP61 C>T	20	20269586	20269586	C	T	CFAP61	c.3124+6C>T	NM_015585.4	NP_056400.3:p.?	NC_000020.10:g.20269586C>T	VUS	1 lab	335bf752b0
4:6303701 WFS1 A>G	4	6303701	6303701	A	G	WFS1	c.2179A>G	NM_006005.3	NP_005996.2:p.(Ile727Val)	NC_000004.11:g.6303701A>G	VUS	1 lab	335ca53f70
19:7122666 INSR C>T	19	7122666	7122666	C	T	INSR	c.3488G>A	NM_000208.4	NP_000199.2:p.(Arg1163Lys)	NC_000019.9:g.7122666C>T	(Likely) pathogenic	1 lab	335cf6ceba
14:102323199 PPP2R5C A>G	14	102323199	102323199	A	G	PPP2R5C	c.436A>G	NM_001352913.2	NP_001339842.1:p.(Ile146Val)	NC_000014.8:g.102323199A>G	VUS	1 lab	335d067989
8:22473725 CCAR2 G>C	8	22473725	22473725	G	C	CCAR2	c.1809G>C	NM_001393997.1	NP_001380926.1:p.(Gln603His)	NC_000008.10:g.22473725G>C	(Likely) benign	1 lab	335dc9cc8f
17:60142645 MED13 C>G	17	60142645	60142645	C	G	MED13				NC_000017.10:g.60142645C>G	VUS	1 lab	335e21f83e
16:57785189 KATNB1 G>A	16	57785189	57785189	G	A	KATNB1	c.407G>A	NM_005886.3	NP_005877.2:p.(Arg136Lys)	NC_000016.9:g.57785189G>A	VUS	1 lab	335e2a95d4
2:170044552 LRP2 G>A	2	170044552	170044552	G	A	LRP2	c.9256C>T	NM_004525.3	NP_004516.2:p.(Arg3086Cys)	NC_000002.11:g.170044552G>A	VUS	1 lab	335f3ac769
14:58955499 KIAA0586 T>C	14	58955499	58955499	T	C	KIAA0586	c.3847T>C	NM_001244189.2	NP_001231118.1:p.(Leu1283=)	NC_000014.8:g.58955499T>C	(Likely) benign	1 lab	1db3027a2a
18:2705759 SMCHD1 A>G	18	2705759	2705759	A	G	SMCHD1	c.1910A>G	NM_015295.3	NP_056110.2:p.(His637Arg)	NC_000018.9:g.2705759A>G	VUS	1 lab	33601e3bf2
9:33796758 PRSS3 T>A	9	33796758	33796758	T	A	PRSS3	c.158T>A	NM_002771.4	NP_002762.3:p.(Ile53Asn)	NC_000009.11:g.33796758T>A	(Likely) benign	1 lab	3360cf71d8
3:49759919 GMPPB C>G	3	49759919	49759919	C	G	GMPPB	c.586G>C	NM_021971.4	NP_068806.2:p.(Glu196Gln)	NC_000003.11:g.49759919C>G	VUS	1 lab	3360e29324
6:30864542 DDR1 C>T	6	30864542	30864542	C	T	DDR1	c.1769C>T	NM_001297654.2	NP_001284583.1:p.(Ala590Val)	NC_000006.11:g.30864542C>T	VUS	1 lab	33611cc00c
11:65978600 PACS1 C>T	11	65978600	65978600	C	T	PACS1	c.535-5C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65978600C>T	(Likely) benign	1 lab	33623d8764
8:101721932 PABPC1 CT>C	8	101721932	101721935	CT	C	PABPC1	c.999del	NM_002568.4	NP_002559.2:p.(Phe335LeufsTer19)	NC_000008.10:g.101721935del	VUS	1 lab	3363a1708b
4:15512895 CC2D2A A>G	4	15512895	15512895	A	G	CC2D2A	c.566A>G	NM_001378615.1	NP_001365544.1:p.(Glu189Gly)	NC_000004.11:g.15512895A>G	VUS	1 lab	3363aaa7e3
19:15271843 NOTCH3 C>A	19	15271843	15271843	C	A	NOTCH3	c.6596G>T	NM_000435.3	NP_000426.2:p.(Gly2199Val)	NC_000019.9:g.15271843C>A	(Likely) benign	1 lab	33646c4615
14:101351011 RTL1 T>G	14	101351011	101351011	T	G	RTL1	c.115A>C	NM_001134888.3	NP_001128360.1:p.(Ser39Arg)	NC_000014.8:g.101351011T>G	(Likely) benign	1 lab	3365108711
22:45931223 FBLN1 A>C	22	45931223	45931223	A	C	FBLN1	c.922+6A>C	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45931223A>C	(Likely) benign	1 lab	33661ad576
15:89382261 ACAN G>A	15	89382261	89382261	G	A	ACAN	c.438G>A	NM_001369268.1	NP_001356197.1:p.(Leu146=)	NC_000015.9:g.89382261G>A	(Likely) benign	1 lab	336638d103
X:132161911 USP26 C>A	X	132161911	132161911	C	A	USP26	c.338G>T	NM_031907.3	NP_114113.1:p.(Gly113Val)	NC_000023.10:g.132161911C>A	(Likely) benign	1 lab	336886f6c6
10:89503336 PAPSS2 G>T	10	89503336	89503336	G	T	PAPSS2	c.1429G>T	NM_001015880.2	NP_001015880.1:p.(Asp477Tyr)	NC_000010.10:g.89503336G>T	VUS	1 lab	336b26285a
X:41586304 CASK C>A	X	41586304	41586304	C	A	CASK	c.429+12333G>T	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41586304C>A	VUS	1 lab	336b661b12
17:73749993 ITGB4 A>G	17	73749993	73749993	A	G	ITGB4	c.4256A>G	NM_000213.5	NP_000204.3:p.(Asp1419Gly)	NC_000017.10:g.73749993A>G	VUS	1 lab	336b6ab4fc
9:131021641 GOLGA2 A>C	9	131021641	131021641	A	C	GOLGA2	c.1902T>G	NM_001366244.2	NP_001353173.2:p.(Ser634Arg)	NC_000009.11:g.131021641A>C	(Likely) benign	1 lab	336b6d7ff7
11:64627812 EHD1 G>C	11	64627812	64627812	G	C	EHD1	c.503-4C>G	NM_006795.4	NP_006786.2:p.?	NC_000011.9:g.64627812G>C	(Likely) benign	1 lab	336bba6b33
9:139417526 NOTCH1 G>A	9	139417526	139417526	G	A	NOTCH1	c.518C>T	NM_017617.5	NP_060087.3:p.(Pro173Leu)	NC_000009.11:g.139417526G>A	VUS	1 lab	336bcfbaaf
11:17414551 ABCC8 C>T	11	17414551	17414551	C	T	ABCC8	c.4733G>A	NM_000352.6	NP_000343.2:p.(Arg1578His)	NC_000011.9:g.17414551C>T	VUS	1 lab	336c7c16f1
17:65907707 BPTF C>T	17	65907707	65907707	C	T	BPTF	c.3707C>T	NM_182641.4	NP_872579.2:p.(Pro1236Leu)	NC_000017.10:g.65907707C>T	(Likely) benign	1 lab	336cac900c
19:36394781 HCST C>A	19	36394781	36394781	C	A	HCST	c.217C>A	NM_014266.4	NP_055081.1:p.(Arg73Ser)	NC_000019.9:g.36394781C>A	(Likely) benign	1 lab	336cd78bb8
7:94055122 COL1A2 C>T	7	94055122	94055122	C	T	COL1A2	c.2896C>T	NM_000089.4	NP_000080.2:p.(His966Tyr)	NC_000007.13:g.94055122C>T	(Likely) benign	1 lab	336d4e025a
1:21894603 ALPL A>G	1	21894603	21894603	A	G	ALPL	c.655A>G	NM_000478.6	NP_000469.3:p.(Met219Val)	NC_000001.10:g.21894603A>G	VUS	1 lab	336d9761ad
11:46894989 LRP4 C>A	11	46894989	46894989	C	A	LRP4	c.4385G>T	NM_002334.4	NP_002325.2:p.(Arg1462Leu)	NC_000011.9:g.46894989C>A	VUS	1 lab	336e5910f4
1:120508066 NOTCH2 A>C	1	120508066	120508066	A	C	NOTCH2	c.1681+10T>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120508066A>C	(Likely) benign	1 lab	3370a1b6a9
12:57422969 MYO1A G>C	12	57422969	57422969	G	C	MYO1A	c.2952C>G	NM_005379.4	NP_005370.1:p.(Tyr984Ter)	NC_000012.11:g.57422969G>C	(Likely) pathogenic	1 lab	3372d671ca
12:133249838 POLE T>C	12	133249838	133249838	T	C	POLE	c.1385A>G	NM_006231.4	NP_006222.2:p.(Asp462Gly)	NC_000012.11:g.133249838T>C	VUS	1 lab	3373406890
5:70272761 NAIP C>T	5	70272761	70272761	C	T	NAIP	c.3567G>A	NM_004536.3	NP_004527.2:p.(Ser1189=)	NC_000005.9:g.70272761C>T	VUS	1 lab	337348d26a
4:103822353 SLC9B1 A>C	4	103822353	103822353	A	C	SLC9B1	c.1469T>G	NM_139173.4	NP_631912.3:p.(Ile490Ser)	NC_000004.11:g.103822353A>C	VUS	1 lab	337397cb07
12:65564439 LEMD3 C>T	12	65564439	65564439	C	T	LEMD3	c.1063C>T	NM_014319.5	NP_055134.2:p.(Pro355Ser)	NC_000012.11:g.65564439C>T	(Likely) benign	1 lab	33740c050d
2:179595729 TTN T>A	2	179595729	179595729	T	A	TTN	c.17663A>T	NM_001267550.2	NP_001254479.2:p.(Lys5888Ile)	NC_000002.11:g.179595729T>A	VUS	1 lab	337410605e
9:711242 KANK1 T>A	9	711242	711242	T	A	KANK1	c.476T>A	NM_015158.5	NP_055973.2:p.(Met159Lys)	NC_000009.11:g.711242T>A	VUS	1 lab	3375ff2fc8
4:54011524 SCFD2 A>G	4	54011524	54011524	A	G	SCFD2	c.1537T>C	NM_152540.4	NP_689753.2:p.(Ser513Pro)	NC_000004.11:g.54011524A>G	VUS	1 lab	3378109b30
3:119133748 ARHGAP31 C>A	3	119133748	119133748	C	A	ARHGAP31	c.2972C>A	NM_020754.4	NP_065805.2:p.(Ala991Glu)	NC_000003.11:g.119133748C>A	(Likely) benign	1 lab	337a52601b
2:166897986 SCN1A T>TA	2	166897986	166897988	T	TA	SCN1A	c.2177-8dup	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897988dup	VUS	1 lab	337c10bfb2
3:77629200 ROBO2 C>T	3	77629200	77629200	C	T	ROBO2	c.2443C>T	NM_001395656.1	NP_001382585.1:p.(Arg815Trp)	NC_000003.11:g.77629200C>T	(Likely) benign	1 lab	338070781f
13:42876868 AKAP11 C>T	13	42876868	42876868	C	T	AKAP11	c.3986C>T	NM_016248.4	NP_057332.1:p.(Ser1329Leu)	NC_000013.10:g.42876868C>T	(Likely) benign	1 lab	3382846460
11:47435029 SLC39A13 G>A	11	47435029	47435029	G	A	SLC39A13	c.616G>A	NM_001128225.3	NP_001121697.2:p.(Gly206Ser)	NC_000011.9:g.47435029G>A	(Likely) benign	1 lab	338290d878
11:66639289 PC C>T	11	66639289	66639289	C	T	PC	c.190G>A	NM_001040716.2	NP_001035806.1:p.(Val64Ile)	NC_000011.9:g.66639289C>T	VUS	1 lab	3385167117
19:15272342 NOTCH3 G>A	19	15272342	15272342	G	A	NOTCH3	c.6097C>T	NM_000435.3	NP_000426.2:p.(Pro2033Ser)	NC_000019.9:g.15272342G>A	(Likely) benign	1 lab	33863b5a06
X:123165893 STAG2 T>C	X	123165893	123165893	T	C	STAG2	c.288+918T>C	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123165893T>C	(Likely) benign	1 lab	3386c37579
1:33236549 NHSL3 C>CT	1	33236549	33236550	C	CT	NHSL3	c.1770dup	NM_020888.3	NP_065939.2:p.(Pro591SerfsTer22)	NC_000001.10:g.33236550dup	(Likely) benign	1 lab	33873fa353
1:197072134 ASPM T>C	1	197072134	197072134	T	C	ASPM	c.6247A>G	NM_018136.5	NP_060606.3:p.(Thr2083Ala)	NC_000001.10:g.197072134T>C	(Likely) benign	1 lab	338769bbba
19:7622176 PNPLA6 T>C	19	7622176	7622176	T	C	PNPLA6	c.3397+6T>C	NM_001166114.2	NP_001159586.1:p.?	NC_000019.9:g.7622176T>C	(Likely) benign	1 lab	338a56a505
12:122685139 LRRC43 A>G	12	122685139	122685139	A	G	LRRC43	c.1552A>G	NM_001098519.2	NP_001091989.1:p.(Lys518Glu)	NC_000012.11:g.122685139A>G	(Likely) benign	1 lab	338c316593
2:230450659 DNER A>T	2	230450659	230450659	A	T	DNER	c.762T>A	NM_139072.4	NP_620711.3:p.(Asp254Glu)	NC_000002.11:g.230450659A>T	VUS	1 lab	338d62a6fa
X:107403768 COL4A6 C>T	X	107403768	107403768	C	T	COL4A6	c.4450G>A	NM_033641.4	NP_378667.1:p.(Gly1484Arg)	NC_000023.10:g.107403768C>T	VUS	1 lab	339134af66
15:75664438 SIN3A A>C	15	75664438	75664438	A	C	SIN3A	c.3704T>G	NM_001145358.2	NP_001138830.1:p.(Met1235Arg)	NC_000015.9:g.75664438A>C	VUS	1 lab	3392c6a9b9
15:60806964 RORA A>G	15	60806964	60806964	A	G	RORA	c.283-8T>C	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60806964A>G	(Likely) benign	1 lab	3395a24a9d
2:145153979 ZEB2 C>G	2	145153979	145153979	C	G	ZEB2	c.3067G>C	NM_014795.4	NP_055610.1:p.(Gly1023Arg)	NC_000002.11:g.145153979C>G	(Likely) pathogenic	1 lab	1d0fc4d636
17:39969458 FKBP10 G>A	17	39969458	39969458	G	A	FKBP10	c.172G>A	NM_021939.4	NP_068758.3:p.(Glu58Lys)	NC_000017.10:g.39969458G>A	VUS	1 lab	33964d6830
1:236995258 MTR C>T	1	236995258	236995258	C	T	MTR	c.1076-8C>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236995258C>T	(Likely) benign	1 lab	3396f2b0c4
12:122750683 VPS33A C>T	12	122750683	122750683	C	T	VPS33A	c.102+171G>A	NM_022916.6	NP_075067.2:p.?	NC_000012.11:g.122750683C>T	VUS	1 lab	33976349a1
17:61560842 ACE TC>T	17	61560842	61560844	TC	T	ACE	c.1511del	NM_000789.4	NP_000780.1:p.(Pro504LeufsTer21)	NC_000017.10:g.61560844del	(Likely) pathogenic	1 lab	1db41c2b21
19:50138995 RRAS C>G	19	50138995	50138995	C	G	RRAS	c.568G>C	NM_006270.5	NP_006261.1:p.(Val190Leu)	NC_000019.9:g.50138995C>G	(Likely) benign	1 lab	3398aef134
X:134994567 SAGE1 C>A	X	134994567	134994567	C	A	SAGE1	c.2609C>A	NM_001381902.1	NP_001368831.1:p.(Ala870Glu)	NC_000023.10:g.134994567C>A	(Likely) benign	1 lab	33992cc974
4:1807596 FGFR3 C>G	4	1807596	1807596	C	G	FGFR3	c.1765C>G	NM_000142.5	NP_000133.1:p.(Leu589Val)	NC_000004.11:g.1807596C>G	VUS	1 lab	339b2c8c30
15:75689153 SIN3A G>A	15	75689153	75689153	G	A	SIN3A	c.1855-316C>T	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75689153G>A	(Likely) benign	1 lab	339bd5a15f
1:248129501 OR2AK2 G>A	1	248129501	248129501	G	A	OR2AK2	c.823G>A	NM_001004491.2	NP_001004491.2:p.(Ala275Thr)	NC_000001.10:g.248129501G>A	(Likely) benign	1 lab	339c23fde8
19:9068904 MUC16 G>T	19	9068904	9068904	G	T	MUC16	c.18662C>A	NM_001401501.2	NP_001388430.1:p.(Ala6221Glu)	NC_000019.9:g.9068904G>T	(Likely) benign	1 lab	339e248289
12:53702081 AAAS C>T	12	53702081	53702081	C	T	AAAS	c.1234G>A	NM_015665.6	NP_056480.1:p.(Ala412Thr)	NC_000012.11:g.53702081C>T	(Likely) benign	1 lab	33a027e7b8
12:133306676 ANKLE2 G>A	12	133306676	133306676	G	A	ANKLE2	c.2072C>T	NM_015114.3	NP_055929.1:p.(Pro691Leu)	NC_000012.11:g.133306676G>A	(Likely) benign	1 lab	33a18c65f4
12:48377866 COL2A1 T>G	12	48377866	48377866	T	G	COL2A1	c.1941+4A>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48377866T>G	(Likely) benign	1 lab	33a21472f5
9:32986007 APTX G>A	9	32986007	32986007	G	A	APTX	c.505C>T	NM_001195248.2	NP_001182177.2:p.(Gln169Ter)	NC_000009.11:g.32986007G>A	VUS	1 lab	33a427773c
10:124266379 HTRA1 T>C	10	124266379	124266379	T	C	HTRA1	c.950T>C	NM_002775.5	NP_002766.1:p.(Ile317Thr)	NC_000010.10:g.124266379T>C	(Likely) pathogenic	1 lab	33afba4f6b
16:2522484 NTN3 CCTCACGGTGCCTGCTGGACACACAGGGCCA>C	16	2522484	2522515	CCTCACGGTGCCTGCTGGACACACAGGGCCA	C	NTN3	c.784_813del	NM_006181.3	NP_006172.1:p.(Ser262_His271del)	NC_000016.9:g.2522486_2522515del	VUS	1 lab	33a48a85cd
6:117199061 RFX6 C>T	6	117199061	117199061	C	T	RFX6	c.326C>T	NM_173560.4	NP_775831.2:p.(Thr109Ile)	NC_000006.11:g.117199061C>T	VUS	1 lab	33a64b287f
2:33335687 LTBP1 A>G	2	33335687	33335687	A	G	LTBP1	c.902A>G	NM_206943.4	NP_996826.3:p.(His301Arg)	NC_000002.11:g.33335687A>G	(Likely) benign	1 lab	33a6b2f2cc
X:73524526 ZCCHC13 A>G	X	73524526	73524526	A	G	ZCCHC13	c.425A>G	NM_203303.3	NP_976048.1:p.(Asn142Ser)	NC_000023.10:g.73524526A>G	VUS	1 lab	33a72f6bd7
1:16258898 SPEN C>A	1	16258898	16258898	C	A	SPEN	c.6163C>A	NM_015001.3	NP_055816.2:p.(Pro2055Thr)	NC_000001.10:g.16258898C>A	(Likely) benign	1 lab	33a751a2c3
13:32954258 BRCA2 G>T	13	32954258	32954258	G	T	BRCA2	c.9232G>T	NM_000059.3	NP_000050.2:p.(Val3078Phe)	NC_000013.10:g.32954258G>T	VUS	1 lab	1db4342be2
18:19761461 GATA6 A>G	18	19761461	19761461	A	G	GATA6	c.1350A>G	NM_005257.6	NP_005248.2:p.(Thr450=)	NC_000018.9:g.19761461A>G	(Likely) benign	1 lab	33a868acfa
16:30992401 SETD1A G>A	16	30992401	30992401	G	A	SETD1A	c.4712G>A	NM_014712.3	NP_055527.1:p.(Arg1571Gln)	NC_000016.9:g.30992401G>A	VUS	1 lab	33a87586d3
9:100843305 NANS C>T	9	100843305	100843305	C	T	NANS	c.811C>T	NM_018946.4	NP_061819.2:p.(Arg271Cys)	NC_000009.11:g.100843305C>T	VUS	1 lab	33ac4e70e4
2:105472849 POU3F3 A>ACGG	2	105472849	105472869	A	ACGG	POU3F3	c.899_901dup	NM_006236.3	NP_006227.1:p.(Gly300dup)	NC_000002.11:g.105472867_105472869dup	(Likely) benign	1 lab	33ac7bcb9a
3:69265418 FRMD4B C>T	3	69265418	69265418	C	T	FRMD4B	c.872G>A	NM_015123.3	NP_055938.2:p.(Arg291Gln)	NC_000003.11:g.69265418C>T	VUS	1 lab	33acfb366b
13:28494401 PDX1 CCCG>C	13	28494401	28494417	CCCG	C	PDX1	c.140_142del	NM_000209.4	NP_000200.1:p.(Pro47del)	NC_000013.10:g.28494415_28494417del	(Likely) benign	1 lab	33adb034cf
2:179467318 TTN C>A	2	179467318	179467318	C	A	TTN	c.54812-1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467318C>A	(Likely) pathogenic	1 lab	33adbdf6cc
10:88441256 LDB3 A>G	10	88441256	88441256	A	G	LDB3	c.385A>G	NM_001171610.2	NP_001165081.1:p.(Ser129Gly)	NC_000010.10:g.88441256A>G	VUS	1 lab	1d152a998b
20:61444638 OGFR CCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAG>C	20	61444638	61444699	CCCATCGGAGACCCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAG	C	OGFR	c.1674_1732del	NM_007346.4	NP_031372.2:p.(Ser559IlefsTer15)	NC_000020.10:g.61444641_61444699del	VUS	1 lab	33af54cc79
9:101981079 ALG2 G>A	9	101981079	101981079	G	A	ALG2	c.388C>T	NM_033087.4	NP_149078.1:p.(Arg130Trp)	NC_000009.11:g.101981079G>A	VUS	1 lab	33affcfa6d
6:42713409 TBCC T>G	6	42713409	42713409	T	G	TBCC	c.403A>C	NM_003192.3	NP_003183.2:p.(Lys135Gln)	NC_000006.11:g.42713409T>G	(Likely) benign	1 lab	33b0083680
X:32663080 DMD C>T	X	32663080	32663080	C	T	DMD	c.1149+1G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32663080C>T	(Likely) pathogenic	1 lab	33b12f4f4a
17:61315298 TANC2 G>C	17	61315298	61315298	G	C	TANC2	c.893G>C	NM_001394998.1	NP_001381927.1:p.(Cys298Ser)	NC_000017.10:g.61315298G>C	(Likely) benign	1 lab	33b1a6f23c
16:16272822 ABCC6 CCT>C	16	16272822	16272824	CCT	C	ABCC6	c.2248-2_2248-1del	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16272823_16272824del	(Likely) pathogenic	1 lab	33b1e1b0ce
2:55771496 CFAP36 G>A	2	55771496	55771496	G	A	CFAP36	c.918G>A	NM_080667.7	NP_542398.3:p.(Gly306=)	NC_000002.11:g.55771496G>A	VUS	1 lab	33b5d6c147
1:52959286 TUT4 T>C	1	52959286	52959286	T	C	TUT4	c.1315A>G	NM_001009881.3	NP_001009881.1:p.(Asn439Asp)	NC_000001.10:g.52959286T>C	(Likely) benign	1 lab	33b5e49a27
7:70163546 AUTS2 G>C	7	70163546	70163546	G	C	AUTS2	c.691-9G>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70163546G>C	(Likely) benign	1 lab	33b647978c
1:237823325 RYR2 C>A	1	237823325	237823325	C	A	RYR2	c.8249C>A	NM_001035.3	NP_001026.2:p.(Ser2750Tyr)	NC_000001.10:g.237823325C>A	VUS	1 lab	393caaf77f
3:122002809 CASR G>A	3	122002809	122002809	G	A	CASR	c.2008G>A	NM_000388.4	NP_000379.3:p.(Gly670Arg)	NC_000003.11:g.122002809G>A	(Likely) pathogenic	1 lab	33b67c6b6d
20:43048366 HNF4A GACT>G	20	43048366	43048371	GACT	G	HNF4A	c.745_747del	NM_000457.5	NP_000448.3:p.(Tyr249del)	NC_000020.10:g.43048369_43048371del	VUS	1 lab	33bc91daaf
16:16200716 ABCC1 G>C	16	16200716	16200716	G	C	ABCC1	c.2857G>C	NM_004996.4	NP_004987.2:p.(Ala953Pro)	NC_000016.9:g.16200716G>C	(Likely) benign	1 lab	33bcde1d88
1:19494605 UBR4 G>A	1	19494605	19494605	G	A	UBR4	c.3815C>T	NM_020765.3	NP_065816.2:p.(Thr1272Ile)	NC_000001.10:g.19494605G>A	VUS	1 lab	33bd34ac0a
X:48792052 OTUD5 T>C	X	48792052	48792052	T	C	OTUD5	c.842A>G	NM_001136157.2	NP_001129629.1:p.(Asn281Ser)	NC_000023.10:g.48792052T>C	(Likely) pathogenic	1 lab	33c0abe84d
21:47685404 MCM3AP G>A	21	47685404	47685404	G	A	MCM3AP	c.3065C>T	NM_003906.5	NP_003897.2:p.(Pro1022Leu)	NC_000021.8:g.47685404G>A	(Likely) benign	1 lab	33c1d29d6a
1:17295816 CROCC A>G	1	17295816	17295816	A	G	CROCC	c.5282A>G	NM_014675.5	NP_055490.4:p.(His1761Arg)	NC_000001.10:g.17295816A>G	VUS	1 lab	33c238d191
8:100221880 VPS13B C>T	8	100221880	100221880	C	T	VPS13B	c.2515+16595C>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100221880C>T	VUS	1 lab	33c24138d8
12:56572771 SMARCC2 C>G	12	56572771	56572771	C	G	SMARCC2	c.1141+10G>C	NM_001330288.2	NP_001317217.1:p.?	NC_000012.11:g.56572771C>G	(Likely) benign	1 lab	33c26e3b76
10:69882004 MYPN G>C	10	69882004	69882004	G	C	MYPN	c.809G>C	NM_032578.4	NP_115967.2:p.(Arg270Pro)	NC_000010.10:g.69882004G>C	(Likely) benign	1 lab	33c382a183
17:62025417 SCN4A C>T	17	62025417	62025417	C	T	SCN4A	c.3151G>A	NM_000334.4	NP_000325.4:p.(Glu1051Lys)	NC_000017.10:g.62025417C>T	VUS	1 lab	33c3b28c39
4:74005457 ANKRD17 G>T	4	74005457	74005457	G	T	ANKRD17	c.2876C>A	NM_032217.5	NP_115593.3:p.(Pro959His)	NC_000004.11:g.74005457G>T	(Likely) benign	1 lab	33c4d37a4d
18:43508880 EPG5 G>A	18	43508880	43508880	G	A	EPG5	c.2508C>T	NM_020964.3	NP_066015.2:p.(Ser836=)	NC_000018.9:g.43508880G>A	(Likely) benign	1 lab	33c512bac0
7:98529121 TRRAP G>C	7	98529121	98529121	G	C	TRRAP	c.3685G>C	NM_001375524.1	NP_001362453.1:p.(Glu1229Gln)	NC_000007.13:g.98529121G>C	VUS	1 lab	33c532fe5e
15:90210171 PLIN1 A>C	15	90210171	90210171	A	C	PLIN1	c.1205T>G	NM_002666.5	NP_002657.3:p.(Val402Gly)	NC_000015.9:g.90210171A>C	VUS	1 lab	33c5945c8d
6:30995078 MUC22 G>A	6	30995078	30995078	G	A	MUC22	c.1870G>A	NM_001395414.1	NP_001382343.1:p.(Glu624Lys)	NC_000006.11:g.30995078G>A	VUS	1 lab	33c5d2b211
3:4747964 ITPR1 C>T	3	4747964	4747964	C	T	ITPR1	c.4771C>T	NM_001378452.1	NP_001365381.1:p.(Arg1591Cys)	NC_000003.11:g.4747964C>T	VUS	1 lab	33c7129c8c
1:1178825 C1QTNF12 C>T	1	1178825	1178825	C	T	C1QTNF12	c.639G>A	NM_001014980.3	NP_001014980.1:p.(Val213=)	NC_000001.10:g.1178825C>T	VUS	1 lab	33c79b0893
12:115109657 TBX3 C>G	12	115109657	115109657	C	G	TBX3	c.2161G>C	NM_005996.4	NP_005987.3:p.(Ala721Pro)	NC_000012.11:g.115109657C>G	(Likely) benign	1 lab	33c8558be5
10:70196927 DNA2 T>C	10	70196927	70196927	T	C	DNA2	c.1487A>G	NM_001080449.3	NP_001073918.2:p.(Tyr496Cys)	NC_000010.10:g.70196927T>C	VUS	1 lab	33c8c2e0f7
19:55148201 LILRB1 C>T	19	55148201	55148201	C	T	LILRB1	c.1831C>T	NM_001081637.3	NP_001075106.2:p.(Pro611Ser)	NC_000019.9:g.55148201C>T	VUS	1 lab	33c99d3e10
4:41983864 DCAF4L1 G>A	4	41983864	41983864	G	A	DCAF4L1	c.55G>A	NM_001029955.4	NP_001025126.2:p.(Ala19Thr)	NC_000004.11:g.41983864G>A	VUS	1 lab	33ce32372e
17:71199781 COG1 A>G	17	71199781	71199781	A	G	COG1	c.2231A>G	NM_018714.3	NP_061184.1:p.(Tyr744Cys)	NC_000017.10:g.71199781A>G	(Likely) benign	1 lab	33cefb08bd
14:36154358 RALGAPA1 G>A	14	36154358	36154358	G	A	RALGAPA1	c.4078-7C>T	NM_001346249.2	NP_001333178.1:p.?	NC_000014.8:g.36154358G>A	(Likely) benign	1 lab	33cf820415
18:13049150 CEP192 A>G	18	13049150	13049150	A	G	CEP192	c.2360A>G	NM_032142.4	NP_115518.3:p.(Lys787Arg)	NC_000018.9:g.13049150A>G	(Likely) benign	1 lab	33d054e780
1:176915203 ASTN1 G>A	1	176915203	176915203	G	A	ASTN1	c.2108C>T	NM_004319.3	NP_004310.1:p.(Thr703Met)	NC_000001.10:g.176915203G>A	VUS	1 lab	33d07a2111
17:48273021 COL1A1 T>A	17	48273021	48273021	T	A	COL1A1	c.1062A>T	NM_000088.4	NP_000079.2:p.(Glu354Asp)	NC_000017.10:g.48273021T>A	(Likely) benign	1 lab	33d1b7dd31
14:55168914 SAMD4A C>G	14	55168914	55168914	C	G	SAMD4A	c.331C>G	NM_015589.6	NP_056404.4:p.(His111Asp)	NC_000014.8:g.55168914C>G	(Likely) benign	1 lab	33d30ffbe4
16:2140117 PKD1 CA>C	16	2140117	2140118	CA	C	PKD1	c.12522del	NM_001009944.3	NP_001009944.3:p.(Asp4174GlufsTer24)	NC_000016.9:g.2140118del	(Likely) pathogenic	1 lab	33d39f8acd
19:15296494 NOTCH3 G>C	19	15296494	15296494	G	C	NOTCH3	c.1952-4C>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15296494G>C	(Likely) benign	1 lab	33d4f6c3bb
1:35472675 ZMYM6 G>A	1	35472675	35472675	G	A	ZMYM6	c.1690C>T	NM_007167.4	NP_009098.3:p.(Arg564Ter)	NC_000001.10:g.35472675G>A	VUS	1 lab	33d638afe8
2:163138923 IFIH1 G>A	2	163138923	163138923	G	A	IFIH1	c.1259C>T	NM_022168.4	NP_071451.2:p.(Ser420Phe)	NC_000002.11:g.163138923G>A	(Likely) benign	1 lab	33d650fb90
17:40117284 ODAD4 T>C	17	40117284	40117284	T	C	ODAD4	c.1802T>C	NM_031421.5	NP_113609.1:p.(Leu601Pro)	NC_000017.10:g.40117284T>C	VUS	1 lab	33d6884fe3
2:191878410 STAT1 AAAAGAAG>A	2	191878410	191878420	AAAAGAAG	A	STAT1	c.-155-13_-155-7del	NM_007315.4	NP_009330.1:p.?	NC_000002.11:g.191878414_191878420del	VUS	1 lab	33d7914065
X:27839708 MAGEB10 A>G	X	27839708	27839708	A	G	MAGEB10	c.285A>G	NM_182506.3	NP_872312.2:p.(Ile95Met)	NC_000023.10:g.27839708A>G	(Likely) benign	1 lab	33d7dca48e
2:179517403 TTN T>C	2	179517403	179517403	T	C	TTN	c.39020A>G	NM_001267550.2	NP_001254479.2:p.(Lys13007Arg)	NC_000002.11:g.179517403T>C	VUS	1 lab	33d84987c3
1:108735221 SLC25A24 A>G	1	108735221	108735221	A	G	SLC25A24	c.184-6645T>C	NM_013386.5	NP_037518.3:p.?	NC_000001.10:g.108735221A>G	(Likely) benign	1 lab	33da14ac31
6:49425502 MMUT T>A	6	49425502	49425502	T	A	MMUT	c.655A>T	NM_000255.4	NP_000246.2:p.(Asn219Tyr)	NC_000006.11:g.49425502T>A	(Likely) pathogenic	1 lab	33dad86ea8
19:50905521 POLD1 C>G	19	50905521	50905521	C	G	POLD1	c.649C>G	NM_002691.4	NP_002682.2:p.(Pro217Ala)	NC_000019.9:g.50905521C>G	VUS	1 lab	33daeb545f
2:113993084 PAX8 G>A	2	113993084	113993084	G	A	PAX8	c.974C>T	NM_003466.4	NP_003457.1:p.(Ser325Phe)	NC_000002.11:g.113993084G>A	(Likely) benign	1 lab	33daf7e3ea
17:78064097 CCDC40 GGCACGTGCACGAACAACACGGGACGCGCGCA>G	17	78064097	78064129	GGCACGTGCACGAACAACACGGGACGCGCGCA	G	CCDC40	c.2832+416_2832+446del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064099_78064129del	VUS	1 lab	33db15bc64
2:145255397 ZEB2 C>CAT	2	145255397	145255411	C	CAT	ZEB2	c.73+19446_73+19447dup	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145255410_145255411dup	(Likely) benign	1 lab	33dc43caa0
9:740912 KANK1 A>G	9	740912	740912	A	G	KANK1	c.3674A>G	NM_015158.5	NP_055973.2:p.(Asp1225Gly)	NC_000009.11:g.740912A>G	VUS	1 lab	33dc6b0fa9
15:89398659 ACAN C>T	15	89398659	89398659	C	T	ACAN	c.2843C>T	NM_001369268.1	NP_001356197.1:p.(Ala948Val)	NC_000015.9:g.89398659C>T	(Likely) benign	1 lab	33dc6cea3b
18:55273189 NARS1 G>A	18	55273189	55273189	G	A	NARS1	c.1151C>T	NM_004539.4	NP_004530.1:p.(Pro384Leu)	NC_000018.9:g.55273189G>A	VUS	1 lab	33dc859ad7
X:63413150 AMER1 T>C	X	63413150	63413150	T	C	AMER1	c.17A>G	NM_152424.4	NP_689637.3:p.(Asp6Gly)	NC_000023.10:g.63413150T>C	(Likely) benign	1 lab	33dca6462e
14:92471669 TRIP11 T>C	14	92471669	92471669	T	C	TRIP11	c.2651A>G	NM_004239.4	NP_004230.2:p.(Asp884Gly)	NC_000014.8:g.92471669T>C	(Likely) benign	1 lab	33dcb03c89
2:69650717 NFU1 G>C	2	69650717	69650717	G	C	NFU1	c.299C>G	NM_001002755.4	NP_001002755.1:p.(Ala100Gly)	NC_000002.11:g.69650717G>C	VUS	1 lab	33dcc0671f
15:89392852 ACAN C>T	15	89392852	89392852	C	T	ACAN	c.1916C>T	NM_001369268.1	NP_001356197.1:p.(Pro639Leu)	NC_000015.9:g.89392852C>T	(Likely) benign	1 lab	33e011c0bd
6:7240745 RREB1 C>T	6	7240745	7240745	C	T	RREB1	c.3883C>T	NM_001003699.4	NP_001003699.1:p.(Arg1295Cys)	NC_000006.11:g.7240745C>T	VUS	1 lab	1d19ea16f8
13:30829757 KATNAL1 C>CA	13	30829757	30829776	C	CA	KATNAL1	c.324-6dup	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829776dup	(Likely) benign	1 lab	33e2bd2a1e
20:37357151 SLC32A1 C>T	20	37357151	37357151	C	T	SLC32A1	c.1447C>T	NM_080552.3	NP_542119.1:p.(Arg483Cys)	NC_000020.10:g.37357151C>T	(Likely) benign	1 lab	33e50e1842
22:41609919 L3MBTL2 C>T	22	41609919	41609919	C	T	L3MBTL2	c.285C>T	NM_031488.5	NP_113676.2:p.(Ile95=)	NC_000022.10:g.41609919C>T	VUS	1 lab	33e5dca800
9:97380138 FBP1 T>C	9	97380138	97380138	T	C	FBP1	c.338A>G	NM_000507.4	NP_000498.2:p.(Lys113Arg)	NC_000009.11:g.97380138T>C	VUS	1 lab	33e7b1b30b
1:36025965 NCDN A>T	1	36025965	36025965	A	T	NCDN	c.213A>T	NM_014284.3	NP_055099.1:p.(Lys71Asn)	NC_000001.10:g.36025965A>T	VUS	1 lab	33e8f213dc
9:98211599 PTCH1 G>C	9	98211599	98211599	G	C	PTCH1	c.3358C>G	NM_001083602.3	NP_001077071.1:p.(Pro1120Ala)	NC_000009.11:g.98211599G>C	VUS	1 lab	1d1a88065b
4:88959530 PKD2 T>TC	4	88959530	88959532	T	TC	PKD2	c.973dup	NM_000297.4	NP_000288.1:p.(Arg325ProfsTer16)	NC_000004.11:g.88959532dup	(Likely) pathogenic	1 lab	33ec678de8
17:40689442 NAGLU C>T	17	40689442	40689442	C	T	NAGLU	c.410C>T	NM_000263.4	NP_000254.2:p.(Thr137Met)	NC_000017.10:g.40689442C>T	VUS	1 lab	33ef91c845
12:120651964 PXN C>G	12	120651964	120651964	C	G	PXN	c.2805G>C	NM_001385981.1	NP_001372910.1:p.(Gln935His)	NC_000012.11:g.120651964C>G	VUS	1 lab	33efa83305
14:105411922 AHNAK2 C>T	14	105411922	105411922	C	T	AHNAK2	c.9866G>A	NM_138420.4	NP_612429.2:p.(Arg3289Gln)	NC_000014.8:g.105411922C>T	(Likely) benign	1 lab	33f06a662a
19:13319717 CACNA1A G>C	19	13319717	13319717	G	C	CACNA1A	c.6633C>G	NM_001127222.2	NP_001120694.1:p.(His2211Gln)	NC_000019.9:g.13319717G>C	VUS	1 lab	33f174071f
9:132687385 FNBP1 C>G	9	132687385	132687385	C	G	FNBP1	c.841G>C	NM_015033.3	NP_055848.1:p.(Asp281His)	NC_000009.11:g.132687385C>G	VUS	1 lab	33f510f2fd
15:48766499 FBN1 C>T	15	48766499	48766499	C	T	FBN1	c.4163G>A	NM_000138.5	NP_000129.3:p.(Arg1388His)	NC_000015.9:g.48766499C>T	VUS	1 lab	33f6ed92f8
15:89876733 POLGARF C>G	15	89876733	89876733	C	G	POLGARF	c.308G>C	NM_001430120.1	NP_001417049.1:p.(Arg103Pro)	NC_000015.9:g.89876733C>G	(Likely) benign	1 lab	33f6f17ca0
22:50546633 MOV10L1 G>A	22	50546633	50546633	G	A	MOV10L1	c.511G>A	NM_018995.3	NP_061868.1:p.(Glu171Lys)	NC_000022.10:g.50546633G>A	VUS	1 lab	33f7c197a8
10:76741563 KAT6B G>GT	10	76741563	76741564	G	GT	KAT6B	c.2251dup	NM_012330.4	NP_036462.2:p.(Cys751LeufsTer2)	NC_000010.10:g.76741564dup	(Likely) pathogenic	1 lab	1d1b9fe721
20:44579232 ZNF335 C>T	20	44579232	44579232	C	T	ZNF335	c.3192G>A	NM_022095.4	NP_071378.1:p.(Ala1064=)	NC_000020.10:g.44579232C>T	(Likely) benign	1 lab	33f8c96dc2
11:68178947 LRP5 C>T	11	68178947	68178947	C	T	LRP5	c.2362C>T	NM_002335.4	NP_002326.2:p.(Arg788Trp)	NC_000011.9:g.68178947C>T	VUS	1 lab	33fa63a6fd
19:50906305 POLD1 C>CG	19	50906305	50906306	C	CG	POLD1	c.971-4dup	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50906306dup	VUS	1 lab	33fda8b7a8
10:73588723 PSAP C>A	10	73588723	73588723	C	A	PSAP	c.487G>T	NM_002778.4	NP_002769.1:p.(Asp163Tyr)	NC_000010.10:g.73588723C>A	VUS	1 lab	33fe9ca293
16:68380047 PRMT7 G>T	16	68380047	68380047	G	T	PRMT7	c.1056-1G>T	NM_019023.5	NP_061896.1:p.?	NC_000016.9:g.68380047G>T	(Likely) pathogenic	1 lab	3402a055ba
1:6202575 CHD5 G>A	1	6202575	6202575	G	A	CHD5	c.2134C>T	NM_015557.3	NP_056372.1:p.(Arg712Cys)	NC_000001.10:g.6202575G>A	VUS	1 lab	3404a402c4
2:47388918 CALM2 ACTT>A	2	47388918	47388925	ACTT	A	CALM2	c.362_364del	NM_001743.6	NP_001734.1:p.(Glu121del)	NC_000002.11:g.47388923_47388925del	VUS	1 lab	340602088d
9:139734791 RABL6 CAAG>C	9	139734791	139734801	CAAG	C	RABL6	c.2015_2017del	NM_024718.5	NP_078994.3:p.(Lys672del)	NC_000009.11:g.139734799_139734801del	(Likely) benign	1 lab	34064d4cf5
10:28879666 WAC A>C	10	28879666	28879666	A	C	WAC	c.515A>C	NM_016628.5	NP_057712.2:p.(Glu172Ala)	NC_000010.10:g.28879666A>C	(Likely) benign	1 lab	34066c031c
2:73680491 ALMS1 TC>T	2	73680491	73680493	TC	T	ALMS1	c.6839del	NM_001378454.1	NP_001365383.1:p.(Pro2280LeufsTer63)	NC_000002.11:g.73680493del	(Likely) pathogenic	1 lab	34089b8e1a
19:11892036 ZNF441 A>C	19	11892036	11892036	A	C	ZNF441	c.1397A>C	NM_152355.3	NP_689568.2:p.(Glu466Ala)	NC_000019.9:g.11892036A>C	VUS	1 lab	340aeeedcb
X:48125827 SSX1 G>T	X	48125827	48125827	G	T	SSX1	c.*4+1G>T	NM_005635.4	NP_005626.1:p.?	NC_000023.10:g.48125827G>T	(Likely) benign	1 lab	34396d438e
22:46782374 CELSR1 C>G	22	46782374	46782374	C	G	CELSR1	c.6664G>C	NM_001378328.1	NP_001365257.1:p.(Gly2222Arg)	NC_000022.10:g.46782374C>G	(Likely) benign	1 lab	340b04051d
12:13764779 GRIN2B A>AT	12	13764779	13764780	A	AT	GRIN2B	c.1659dup	NM_000834.5	NP_000825.2:p.(Phe554IlefsTer4)	NC_000012.11:g.13764780dup	(Likely) pathogenic	1 lab	1d207a6f38
7:117431247 CTTNBP2 A>ATGG	7	117431247	117431250	A	ATGG	CTTNBP2	c.2000_2002dup	NM_033427.3	NP_219499.1:p.(Ser667_Ile668insThr)	NC_000007.13:g.117431248_117431250dup	VUS	1 lab	340be94a37
11:5718503 TRIM22 G>C	11	5718503	5718503	G	C	TRIM22	c.449G>C	NM_006074.5	NP_006065.2:p.(Arg150Thr)	NC_000011.9:g.5718503G>C	(Likely) benign	1 lab	1db771c4ff
18:24128116 KCTD1 C>T	18	24128116	24128116	C	T	KCTD1	c.385G>A	NM_001142730.3	NP_001136202.1:p.(Ala129Thr)	NC_000018.9:g.24128116C>T	VUS	1 lab	340df25fbf
14:55312569 GCH1 A>C	14	55312569	55312569	A	C	GCH1	c.543T>G	NM_000161.3	NP_000152.1:p.(Val181=)	NC_000014.8:g.55312569A>C	(Likely) benign	1 lab	340e08f6e9
15:28359804 HERC2 T>C	15	28359804	28359804	T	C	HERC2	c.13867A>G	NM_004667.6	NP_004658.3:p.(Thr4623Ala)	NC_000015.9:g.28359804T>C	VUS	1 lab	340e1edd68
11:126333180 KIRREL3 C>T	11	126333180	126333180	C	T	KIRREL3	c.614G>A	NM_032531.4	NP_115920.1:p.(Arg205Gln)	NC_000011.9:g.126333180C>T	(Likely) benign	1 lab	340e618e4a
X:14038578 GEMIN8 C>A	X	14038578	14038578	C	A	GEMIN8	c.91G>T	NM_001042479.2	NP_001035944.1:p.(Ala31Ser)	NC_000023.10:g.14038578C>A	(Likely) benign	1 lab	340f0f3072
2:238249316 COL6A3 G>A	2	238249316	238249316	G	A	COL6A3	c.8243C>T	NM_004369.4	NP_004360.2:p.(Pro2748Leu)	NC_000002.11:g.238249316G>A	VUS	1 lab	340f753c8e
5:180056420 FLT4 C>T	5	180056420	180056420	C	T	FLT4	c.824G>A	NM_182925.5	NP_891555.2:p.(Arg275Gln)	NC_000005.9:g.180056420C>T	VUS	1 lab	34107195fc
4:191003212 MISSING C>T	4	191003212	191003212	C	T	MISSING				NC_000004.11:g.191003212C>T	VUS	1 lab	341291b2b7
2:8910880 KIDINS220 G>GT	2	8910880	8910881	G	GT	KIDINS220	c.2930dup	NM_020738.4	NP_065789.1:p.(Tyr977Ter)	NC_000002.11:g.8910881dup	VUS	1 lab	3413cb2f41
20:43927155 MATN4 A>G	20	43927155	43927155	A	G	MATN4	c.1081T>C	NM_001393530.1	NP_001380459.1:p.(Phe361Leu)	NC_000020.10:g.43927155A>G	VUS	1 lab	3416970c0f
11:95555665 CEP57 A>G	11	95555665	95555665	A	G	CEP57	c.810A>G	NM_014679.5	NP_055494.2:p.(Lys270=)	NC_000011.9:g.95555665A>G	(Likely) benign	1 lab	3416d37cc2
7:8110615 GLCCI1 G>A	7	8110615	8110615	G	A	GLCCI1	c.1031G>A	NM_138426.4	NP_612435.1:p.(Arg344His)	NC_000007.13:g.8110615G>A	(Likely) benign	1 lab	34170cd343
11:6653558 DCHS1 C>T	11	6653558	6653558	C	T	DCHS1	c.3185G>A	NM_003737.4	NP_003728.1:p.(Arg1062His)	NC_000011.9:g.6653558C>T	VUS	1 lab	1d20cf9cbd
2:168931619 STK39 C>T	2	168931619	168931619	C	T	STK39	c.1212G>A	NM_013233.3	NP_037365.2:p.(Lys404=)	NC_000002.11:g.168931619C>T	VUS	1 lab	341d9580b7
5:42565965 GHR G>C	5	42565965	42565965	G	C	GHR	c.-11-1G>C	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42565965G>C	VUS	1 lab	341db64569
1:27876672 AHDC1 G>A	1	27876672	27876672	G	A	AHDC1	c.1955C>T	NM_001371928.1	NP_001358857.1:p.(Thr652Ile)	NC_000001.10:g.27876672G>A	VUS	1 lab	341eb76602
2:220074981 ABCB6 G>C	2	220074981	220074981	G	C	ABCB6	c.2391C>G	NM_005689.4	NP_005680.1:p.(Ile797Met)	NC_000002.11:g.220074981G>C	(Likely) benign	1 lab	341ed9246a
10:72195662 NODAL C>T	10	72195662	72195662	C	T	NODAL	c.271G>A	NM_018055.5	NP_060525.3:p.(Ala91Thr)	NC_000010.10:g.72195662C>T	VUS	1 lab	3420b757a4
2:208986477 CRYGD C>T	2	208986477	208986477	C	T	CRYGD	c.445G>A	NM_006891.4	NP_008822.2:p.(Gly149Arg)	NC_000002.11:g.208986477C>T	VUS	1 lab	3420f327ae
12:2602442 CACNA1C G>A	12	2602442	2602442	G	A	CACNA1C	c.1003G>A	NM_001167623.2	NP_001161095.1:p.(Gly335Ser)	NC_000012.11:g.2602442G>A	VUS	1 lab	1dbb7c03d8
21:46924426 COL18A1 GGCCCCCCAGGCCCCCCA>G	21	46924426	46924444	GGCCCCCCAGGCCCCCCA	G	COL18A1	c.2826_2842del	NM_001379500.1	NP_001366429.1:p.(Pro944ThrfsTer137)	NC_000021.8:g.46924428_46924444del	(Likely) benign	1 lab	34217d00f8
7:151879210 KMT2C T>C	7	151879210	151879210	T	C	KMT2C	c.5735A>G	NM_170606.3	NP_733751.2:p.(His1912Arg)	NC_000007.13:g.151879210T>C	(Likely) benign	1 lab	3421d2bbfb
1:231474282 SPRTN G>GT	1	231474282	231474285	G	GT	SPRTN	c.156dup	NM_032018.7	NP_114407.3:p.(Asn53Ter)	NC_000001.10:g.231474285dup	(Likely) pathogenic	1 lab	342496a041
10:89469083 PAPSS2 CATAT>C	10	89469083	89469102	CATAT	C	PAPSS2	c.145+29_145+32del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89469099_89469102del	(Likely) benign	1 lab	342680398c
2:179566256 TTN T>G	2	179566256	179566256	T	G	TTN	c.30597A>C	NM_001267550.2	NP_001254479.2:p.(Glu10199Asp)	NC_000002.11:g.179566256T>G	(Likely) benign	1 lab	34269458f7
1:147381076 GJA8 G>A	1	147381076	147381076	G	A	GJA8	c.994G>A	NM_005267.5	NP_005258.2:p.(Glu332Lys)	NC_000001.10:g.147381076G>A	(Likely) benign	1 lab	1d254e0439
3:180665644 FXR1 T>C	3	180665644	180665644	T	C	FXR1	c.199-9T>C	NM_005087.4	NP_005078.2:p.?	NC_000003.11:g.180665644T>C	(Likely) benign	1 lab	3429c10758
3:183854432 EIF2B5 T>G	3	183854432	183854432	T	G	EIF2B5	c.228T>G	NM_003907.3	NP_003898.2:p.(Ile76Met)	NC_000003.11:g.183854432T>G	VUS	1 lab	342a8f1fe7
2:210737690 UNC80 G>C	2	210737690	210737690	G	C	UNC80	c.3836G>C	NM_001371986.1	NP_001358915.1:p.(Gly1279Ala)	NC_000002.11:g.210737690G>C	(Likely) benign	1 lab	342bfb9173
15:65935315 SLC24A1 C>T	15	65935315	65935315	C	T	SLC24A1	c.2054-1450C>T	NM_004727.3	NP_004718.1:p.?	NC_000015.9:g.65935315C>T	(Likely) benign	1 lab	342cc6c45a
5:177035918 B4GALT7 G>A	5	177035918	177035918	G	A	B4GALT7	c.731G>A	NM_007255.3	NP_009186.1:p.(Arg244His)	NC_000005.9:g.177035918G>A	VUS	1 lab	3430ace5a7
X:153186252 ARHGAP4 G>A	X	153186252	153186252	G	A	ARHGAP4	c.509C>T	NM_001666.5	NP_001657.3:p.(Thr170Met)	NC_000023.10:g.153186252G>A	VUS	1 lab	3431b76a52
X:133378944 CCDC160 A>G	X	133378944	133378944	A	G	CCDC160	c.114A>G	NM_001353453.3	NP_001340382.1:p.(Ala38=)	NC_000023.10:g.133378944A>G	(Likely) benign	1 lab	3432fe2697
17:65925544 BPTF G>A	17	65925544	65925544	G	A	BPTF	c.6091G>A	NM_182641.4	NP_872579.2:p.(Ala2031Thr)	NC_000017.10:g.65925544G>A	(Likely) benign	1 lab	3433809413
12:54778212 ZNF385A G>A	12	54778212	54778212	G	A	ZNF385A	c.87C>T	NM_015481.3	NP_056296.1:p.(Thr29=)	NC_000012.11:g.54778212G>A	(Likely) benign	1 lab	3433d255fe
1:171621405 MYOC C>T	1	171621405	171621405	C	T	MYOC	c.347G>A	NM_000261.2	NP_000252.1:p.(Gly116Glu)	NC_000001.10:g.171621405C>T	(Likely) benign	1 lab	3434108035
16:88873455 CDT1 G>A	16	88873455	88873455	G	A	CDT1	c.1123-4G>A	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88873455G>A	(Likely) benign	1 lab	3434dc5c00
3:58090892 FLNB C>T	3	58090892	58090892	C	T	FLNB	c.1696C>T	NM_001457.4	NP_001448.2:p.(Arg566Trp)	NC_000003.11:g.58090892C>T	VUS	1 lab	3435e42bbb
22:42609597 TCF20 T>C	22	42609597	42609597	T	C	TCF20	c.1715A>G	NM_001378418.1	NP_001365347.1:p.(Asn572Ser)	NC_000022.10:g.42609597T>C	(Likely) benign	1 lab	3436a285c4
2:152695661 CACNB4 T>C	2	152695661	152695661	T	C	CACNB4	c.1535A>G	NM_000726.5	NP_000717.2:p.(Tyr512Cys)	NC_000002.11:g.152695661T>C	VUS	1 lab	1d288c514c
X:40506622 CXorf38 C>T	X	40506622	40506622	C	T	CXorf38	c.151G>A	NM_144970.3	NP_659407.1:p.(Ala51Thr)	NC_000023.10:g.40506622C>T	VUS	1 lab	343a3a092b
20:9376257 PLCB4 T>C	20	9376257	9376257	T	C	PLCB4	c.1502T>C	NM_001377142.1	NP_001364071.1:p.(Ile501Thr)	NC_000020.10:g.9376257T>C	VUS	1 lab	343aada2b7
14:39554980 SEC23A C>T	14	39554980	39554980	C	T	SEC23A	c.814G>A	NM_006364.4	NP_006355.2:p.(Val272Ile)	NC_000014.8:g.39554980C>T	VUS	1 lab	343b5a2d7f
13:25671456 PABPC3 C>T	13	25671456	25671456	C	T	PABPC3	c.1120C>T	NM_030979.3	NP_112241.2:p.(Arg374Cys)	NC_000013.10:g.25671456C>T	VUS	1 lab	343c27fa74
X:62858000 ARHGEF9 C>T	X	62858000	62858000	C	T	ARHGEF9	c.1480G>A	NM_001353921.2	NP_001340850.1:p.(Ala494Thr)	NC_000023.10:g.62858000C>T	VUS	1 lab	343c94b368
4:6293095 WFS1 G>A	4	6293095	6293095	G	A	WFS1	c.631+1G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293095G>A	(Likely) pathogenic	1 lab	343cf3a605
9:140917876 CACNA1B A>T	9	140917876	140917876	A	T	CACNA1B	c.2681A>T	NM_000718.4	NP_000709.1:p.(Lys894Met)	NC_000009.11:g.140917876A>T	VUS	1 lab	343dc8a256
1:223178357 DISP1 G>C	1	223178357	223178357	G	C	DISP1	c.3618G>C	NM_001377229.1	NP_001364158.1:p.(Glu1206Asp)	NC_000001.10:g.223178357G>C	(Likely) benign	1 lab	344173f81e
1:178821952 ANGPTL1 C>G	1	178821952	178821952	C	G	ANGPTL1	c.1154G>C	NM_004673.4	NP_004664.1:p.(Ser385Thr)	NC_000001.10:g.178821952C>G	VUS	1 lab	3442c2f88c
X:8538671 ANOS1 C>T	X	8538671	8538671	C	T	ANOS1	c.931G>A	NM_000216.4	NP_000207.2:p.(Val311Ile)	NC_000023.10:g.8538671C>T	(Likely) benign	1 lab	344396541d
6:152650876 SYNE1 G>A	6	152650876	152650876	G	A	SYNE1	c.14944C>T	NM_182961.4	NP_892006.3:p.(Arg4982Cys)	NC_000006.11:g.152650876G>A	VUS	1 lab	34444e0f7b
17:34894191 PIGW T>C	17	34894191	34894191	T	C	PIGW	c.1241T>C	NM_001346754.2	NP_001333683.1:p.(Ile414Thr)	NC_000017.10:g.34894191T>C	VUS	1 lab	34475ecfb2
22:51159677 SHANK3 C>T	22	51159677	51159677	C	T	SHANK3	c.3641C>T	NM_001372044.2	NP_001358973.1:p.(Pro1214Leu)	NC_000022.10:g.51159677C>T	(Likely) benign	1 lab	344909179f
17:7311899 NLGN2 A>G	17	7311899	7311899	A	G	NLGN2	c.325A>G	NM_020795.4	NP_065846.1:p.(Asn109Asp)	NC_000017.10:g.7311899A>G	VUS	1 lab	3449a887d0
10:37430688 ANKRD30A C>T	10	37430688	37430688	C	T	ANKRD30A	c.863C>T	NM_052997.3	NP_443723.3:p.(Ala288Val)	NC_000010.10:g.37430688C>T	(Likely) benign	1 lab	344a319e67
3:47165977 SETD2 G>A	3	47165977	47165977	G	A	SETD2	c.149C>T	NM_014159.7	NP_054878.5:p.(Ala50Val)	NC_000003.11:g.47165977G>A	VUS	1 lab	344b402943
19:38954171 RYR1 A>G	19	38954171	38954171	A	G	RYR1	c.2682+4A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38954171A>G	(Likely) benign	1 lab	344c71a54d
9:93641122 SYK T>A	9	93641122	93641122	T	A	SYK	c.1468T>A	NM_003177.7	NP_003168.2:p.(Phe490Ile)	NC_000009.11:g.93641122T>A	VUS	1 lab	1d29901a14
3:192445270 FGF12 T>A	3	192445270	192445270	T	A	FGF12	c.-131+3A>T	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192445270T>A	VUS	1 lab	344d81b5a5
1:156845420 NTRK1 G>A	1	156845420	156845420	G	A	NTRK1	c.1463G>A	NM_002529.4	NP_002520.2:p.(Gly488Asp)	NC_000001.10:g.156845420G>A	VUS	1 lab	344d96ded1
2:202593279 ALS2 C>T	2	202593279	202593279	C	T	ALS2	c.2797G>A	NM_020919.4	NP_065970.2:p.(Val933Met)	NC_000002.11:g.202593279C>T	VUS	1 lab	344f56ceab
1:162740150 DDR2 C>T	1	162740150	162740150	C	T	DDR2	c.1352C>T	NM_006182.4	NP_006173.2:p.(Ser451Phe)	NC_000001.10:g.162740150C>T	VUS	1 lab	34529f544b
8:145013558 PLEC G>T	8	145013558	145013558	G	T	PLEC	c.72C>A	NM_201384.3	NP_958786.1:p.(Asn24Lys)	NC_000008.10:g.145013558G>T	VUS	1 lab	34543b4daf
5:79950761 DHFR C>T	5	79950761	79950761	C	T	DHFR	c.-453G>A	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950761C>T	VUS	1 lab	3454f45f1e
17:18232591 SHMT1 C>T	17	18232591	18232591	C	T	SHMT1	c.1282+1G>A	NM_004169.5	NP_004160.3:p.?	NC_000017.10:g.18232591C>T	VUS	1 lab	345639251f
3:196743053 MELTF G>A	3	196743053	196743053	G	A	MELTF	c.1081+7C>T	NM_005929.6	NP_005920.2:p.?	NC_000003.11:g.196743053G>A	VUS	1 lab	3456469f15
15:52681566 MYO5A T>C	15	52681566	52681566	T	C	MYO5A	c.1543-6A>G	NM_001382347.1	NP_001369276.1:p.?	NC_000015.9:g.52681566T>C	VUS	1 lab	3456545617
16:70512256 FCSK T>C	16	70512256	70512256	T	C	FCSK	c.2723T>C	NM_145059.3	NP_659496.2:p.(Val908Ala)	NC_000016.9:g.70512256T>C	VUS	1 lab	34574e150a
2:39224145 SOS1 C>T	2	39224145	39224145	C	T	SOS1	c.2999G>A	NM_005633.4	NP_005624.2:p.(Ser1000Asn)	NC_000002.11:g.39224145C>T	(Likely) benign	1 lab	3457baeb06
1:155583325 MSTO1 G>C	1	155583325	155583325	G	C	MSTO1	c.1356G>C	NM_018116.4	NP_060586.2:p.(Gln452His)	NC_000001.10:g.155583325G>C	(Likely) benign	1 lab	3458b52fa2
1:165738083 TMCO1 C>T	1	165738083	165738083	C	T	TMCO1	c.-95G>A	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165738083C>T	VUS	1 lab	3459a62f44
22:40801855 SGSM3 C>T	22	40801855	40801855	C	T	SGSM3	c.814+7C>T	NM_015705.6	NP_056520.2:p.?	NC_000022.10:g.40801855C>T	(Likely) benign	1 lab	3459e0d493
12:50747370 FAM186A TC>T	12	50747370	50747372	TC	T	FAM186A	c.3244del	NM_001145475.3	NP_001138947.1:p.(Glu1082LysfsTer26)	NC_000012.11:g.50747372del	VUS	1 lab	345dd886fe
10:95552654 LGI1 G>A	10	95552654	95552654	G	A	LGI1	c.658G>A	NM_005097.4	NP_005088.1:p.(Asp220Asn)	NC_000010.10:g.95552654G>A	(Likely) benign	1 lab	345e7a2d5d
17:17698006 RAI1 G>A	17	17698006	17698006	G	A	RAI1	c.1744G>A	NM_030665.4	NP_109590.3:p.(Asp582Asn)	NC_000017.10:g.17698006G>A	(Likely) benign	1 lab	345f0f43f1
18:21116752 NPC1 C>T	18	21116752	21116752	C	T	NPC1	c.3130G>A	NM_000271.5	NP_000262.2:p.(Val1044Met)	NC_000018.9:g.21116752C>T	VUS	1 lab	345f5f866a
7:27805507 TAX1BP1 A>G	7	27805507	27805507	A	G	TAX1BP1	c.320A>G	NM_006024.7	NP_006015.4:p.(His107Arg)	NC_000007.13:g.27805507A>G	VUS	1 lab	3461e6244c
17:38251989 NR1D1 G>A	17	38251989	38251989	G	A	NR1D1	c.956C>T	NM_021724.5	NP_068370.1:p.(Ala319Val)	NC_000017.10:g.38251989G>A	(Likely) benign	1 lab	3462a7a88e
11:533452 HRAS C>G	11	533452	533452	C	G	HRAS	c.450+1G>C	NM_005343.4	NP_005334.1:p.?	NC_000011.9:g.533452C>G	VUS	1 lab	34631cb3aa
8:119123177 EXT1 T>A	8	119123177	119123177	T	A	EXT1	c.109A>T	NM_000127.3	NP_000118.2:p.(Arg37Ter)	NC_000008.10:g.119123177T>A	(Likely) pathogenic	1 lab	3463786baf
3:57132290 IL17RD CA>C	3	57132290	57132293	CA	C	IL17RD	c.1440del	NM_017563.5	NP_060033.3:p.(Phe480LeufsTer13)	NC_000003.11:g.57132293del	VUS	1 lab	3463b6259d
X:152226262 PNMA3 G>T	X	152226262	152226262	G	T	PNMA3	c.850G>T	NM_013364.6	NP_037496.4:p.(Val284Leu)	NC_000023.10:g.152226262G>T	(Likely) benign	1 lab	3464e5d1f7
11:95826674 MAML2 C>T	11	95826674	95826674	C	T	MAML2	c.521G>A	NM_032427.4	NP_115803.1:p.(Gly174Asp)	NC_000011.9:g.95826674C>T	(Likely) benign	1 lab	34654da821
6:74310068 SLC17A5 A>G	6	74310068	74310068	A	G	SLC17A5	c.1350+6T>C	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74310068A>G	VUS	1 lab	34669e2517
X:12735199 FRMPD4 G>A	X	12735199	12735199	G	A	FRMPD4	c.2621G>A	NM_001368397.1	NP_001355326.1:p.(Gly874Glu)	NC_000023.10:g.12735199G>A	VUS	1 lab	346728d85c
3:71008446 FOXP1 G>T	3	71008446	71008446	G	T	FOXP1	c.1986C>A	NM_001349338.3	NP_001336267.1:p.(Asp662Glu)	NC_000003.11:g.71008446G>T	(Likely) benign	1 lab	34693bb0e3
7:44197795 GCK G>C	7	44197795	44197795	G	C	GCK	c.46-4733C>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44197795G>C	(Likely) benign	1 lab	346c235cec
2:109365522 RANBP2 G>A	2	109365522	109365522	G	A	RANBP2	c.1210G>A	NM_006267.5	NP_006258.3:p.(Asp404Asn)	NC_000002.11:g.109365522G>A	VUS	1 lab	346daecff0
6:21595968 SOX4 C>G	6	21595968	21595968	C	G	SOX4	c.1203C>G	NM_003107.3	NP_003098.1:p.(Phe401Leu)	NC_000006.11:g.21595968C>G	(Likely) benign	1 lab	346f5e9e6a
20:44587935 ZNF335 G>A	20	44587935	44587935	G	A	ZNF335	c.2158C>T	NM_022095.4	NP_071378.1:p.(Arg720Cys)	NC_000020.10:g.44587935G>A	VUS	1 lab	346fb1a807
6:42980708 MEA1 CCCT>C	6	42980708	42980715	CCCT	C	MEA1	c.359_361del	NM_014623.4	NP_055438.1:p.(Glu120del)	NC_000006.11:g.42980713_42980715del	(Likely) benign	1 lab	34708f76c0
2:241705169 KIF1A C>T	2	241705169	241705169	C	T	KIF1A	c.1726G>A	NM_001244008.2	NP_001230937.1:p.(Val576Ile)	NC_000002.11:g.241705169C>T	VUS	1 lab	3470b77c70
7:100403136 EPHB4 G>C	7	100403136	100403136	G	C	EPHB4	c.2665C>G	NM_004444.5	NP_004435.3:p.(Arg889Gly)	NC_000007.13:g.100403136G>C	(Likely) benign	1 lab	3471714da8
9:35807390 NPR2 T>C	9	35807390	35807390	T	C	NPR2	c.2707T>C	NM_003995.4	NP_003986.2:p.(Tyr903His)	NC_000009.11:g.35807390T>C	(Likely) pathogenic	1 lab	347280e4cf
14:30108115 PRKD1 A>G	14	30108115	30108115	A	G	PRKD1	c.697-5T>C	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30108115A>G	(Likely) benign	1 lab	3472e48090
17:1943818 DPH1 G>A	17	1943818	1943818	G	A	DPH1	c.926G>A	NM_001383.6	NP_001374.4:p.(Arg309Gln)	NC_000017.10:g.1943818G>A	(Likely) benign	1 lab	3475d2835e
5:148406032 SH3TC2 C>T	5	148406032	148406032	C	T	SH3TC2	c.3053+103G>A	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148406032C>T	(Likely) benign	1 lab	1dbd3a9364
19:18895853 COMP G>T	19	18895853	18895853	G	T	COMP	c.1767C>A	NM_000095.3	NP_000086.2:p.(Asn589Lys)	NC_000019.9:g.18895853G>T	VUS	1 lab	347866d18c
15:45353285 SORD C>T	15	45353285	45353285	C	T	SORD	c.286C>T	NM_003104.6	NP_003095.2:p.(Pro96Ser)	NC_000015.9:g.45353285C>T	VUS	1 lab	34795efcfb
4:15477557 CC2D2A A>G	4	15477557	15477557	A	G	CC2D2A	c.1A>G	NM_001080522.2	NP_001073991.2:p.(Met1?)	NC_000004.11:g.15477557A>G	(Likely) pathogenic	1 lab	1d2a5c28b7
14:63447620 KCNH5 G>C	14	63447620	63447620	G	C	KCNH5	c.912C>G	NM_139318.5	NP_647479.2:p.(Asp304Glu)	NC_000014.8:g.63447620G>C	(Likely) benign	1 lab	347b987fd5
5:139494236 PURA T>G	5	139494236	139494236	T	G	PURA	c.470T>G	NM_005859.5	NP_005850.1:p.(Met157Arg)	NC_000005.9:g.139494236T>G	(Likely) pathogenic	1 lab	347e5f3ff9
2:29451783 ALK A>AC	2	29451783	29451789	A	AC	ALK	c.2781dup	NM_004304.5	NP_004295.2:p.(Cys928ValfsTer20)	NC_000002.11:g.29451789dup	(Likely) benign	1 lab	347f970332
1:53535762 PODN G>A	1	53535762	53535762	G	A	PODN	c.235G>A	NM_153703.5	NP_714914.3:p.(Val79Ile)	NC_000001.10:g.53535762G>A	(Likely) benign	1 lab	34823c3361
8:61728946 CHD7 CTCTTA>C	8	61728946	61728955	CTCTTA	C	CHD7	c.2504_2508del	NM_017780.4	NP_060250.2:p.(Tyr835SerfsTer14)	NC_000008.10:g.61728951_61728955del	VUS	1 lab	3483709199
16:1252068 CACNA1H G>A	16	1252068	1252068	G	A	CACNA1H	c.1618G>A	NM_021098.3	NP_066921.2:p.(Gly540Ser)	NC_000016.9:g.1252068G>A	(Likely) benign	1 lab	3484925801
4:6302855 WFS1 C>T	4	6302855	6302855	C	T	WFS1	c.1333C>T	NM_006005.3	NP_005996.2:p.(Leu445=)	NC_000004.11:g.6302855C>T	(Likely) benign	1 lab	3487b7b4b9
4:52899748 SGCB C>A	4	52899748	52899748	C	A	SGCB	c.92G>T	NM_000232.5	NP_000223.1:p.(Ser31Ile)	NC_000004.11:g.52899748C>A	(Likely) benign	1 lab	3488ddf420
3:180337129 CCDC39 T>C	3	180337129	180337129	T	C	CCDC39	c.2183A>G	NM_181426.2	NP_852091.1:p.(Gln728Arg)	NC_000003.11:g.180337129T>C	(Likely) benign	1 lab	3489639d87
6:129636759 LAMA2 C>A	6	129636759	129636759	C	A	LAMA2	c.3694C>A	NM_000426.4	NP_000417.3:p.(Pro1232Thr)	NC_000006.11:g.129636759C>A	VUS	1 lab	348b3743e1
X:3229453 MXRA5 T>A	X	3229453	3229453	T	A	MXRA5	c.6791A>T	NM_015419.4	NP_056234.2:p.(Asp2264Val)	NC_000023.10:g.3229453T>A	VUS	1 lab	348b70b335
3:172163205 GHSR G>A	3	172163205	172163205	G	A	GHSR	c.847C>T	NM_198407.2	NP_940799.1:p.(Arg283Ter)	NC_000003.11:g.172163205G>A	VUS	1 lab	348bf5cb72
7:107732219 LAMB4 C>A	7	107732219	107732219	C	A	LAMB4	c.1553G>T	NM_007356.3	NP_031382.2:p.(Cys518Phe)	NC_000007.13:g.107732219C>A	VUS	1 lab	348cf14177
6:136603827 BCLAF1 T>TGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCG	6	136603827	136603828	T	TGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCG	BCLAF1	c.-114-3_-114-2insCGGGAAATGGCCGCTGTGTGGTTGCAACGGAGATAAATTCCCGTAACCGCGATTCGGCGTGTC	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136603827_136603828insGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCG	(Likely) benign	1 lab	348e3061cb
12:113557072 RASAL1 C>T	12	113557072	113557072	C	T	RASAL1	c.511-8G>A	NM_001301202.2	NP_001288131.1:p.?	NC_000012.11:g.113557072C>T	(Likely) benign	1 lab	348edeb674
9:134090601 NUP214 A>G	9	134090601	134090601	A	G	NUP214	c.5595A>G	NM_005085.4	NP_005076.3:p.(Gln1865=)	NC_000009.11:g.134090601A>G	VUS	1 lab	3491c5ca83
7:73474468 ELN A>T	7	73474468	73474468	A	T	ELN	c.1577-2A>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73474468A>T	VUS	1 lab	3494e991fc
6:87955295 ZNF292 G>A	6	87955295	87955295	G	A	ZNF292	c.953G>A	NM_015021.3	NP_055836.1:p.(Arg318His)	NC_000006.11:g.87955295G>A	VUS	1 lab	3496d6b60a
15:37390208 MEIS2 C>A	15	37390208	37390208	C	A	MEIS2	c.205G>T	NM_170675.5	NP_733775.1:p.(Val69Phe)	NC_000015.9:g.37390208C>A	VUS	1 lab	3496f9fd94
6:42019087 TAF8 A>AT	6	42019087	42019089	A	AT	TAF8	c.46-6dup	NM_138572.3	NP_612639.2:p.?	NC_000006.11:g.42019089dup	(Likely) benign	1 lab	3497332e05
X:149101981 EOLA2 TAC>T	X	149101981	149101984	TAC	T	EOLA2	c.110_111del	NM_001013845.2	NP_001013867.1:p.(Cys37TyrfsTer51)	NC_000023.10:g.149101983_149101984del	VUS	1 lab	34973a4da4
16:26147334 HS3ST4 G>A	16	26147334	26147334	G	A	HS3ST4	c.1136G>A	NM_006040.3	NP_006031.2:p.(Arg379His)	NC_000016.9:g.26147334G>A	VUS	1 lab	349a14f695
11:17408851 KCNJ11 G>T	11	17408851	17408851	G	T	KCNJ11	c.788C>A	NM_000525.4	NP_000516.3:p.(Ala263Asp)	NC_000011.9:g.17408851G>T	(Likely) benign	1 lab	349b5253b3
2:71817396 DYSF G>A	2	71817396	71817396	G	A	DYSF	c.3552G>A	NM_001130987.2	NP_001124459.1:p.(Ala1184=)	NC_000002.11:g.71817396G>A	(Likely) benign	1 lab	349bd87677
5:7875364 MTRR T>A	5	7875364	7875364	T	A	MTRR	c.284-7T>A	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7875364T>A	VUS	1 lab	350133ae8e
X:13681602 TCEANC C>G	X	13681602	13681602	C	G	TCEANC	c.975C>G	NM_001297563.2	NP_001284492.1:p.(Asn325Lys)	NC_000023.10:g.13681602C>G	(Likely) benign	1 lab	349cf2d718
6:73904706 KCNQ5 A>G	6	73904706	73904706	A	G	KCNQ5	c.2368A>G	NM_019842.4	NP_062816.2:p.(Asn790Asp)	NC_000006.11:g.73904706A>G	VUS	1 lab	349dcc7a5a
5:90119307 ADGRV1 A>G	5	90119307	90119307	A	G	ADGRV1	c.16262A>G	NM_032119.4	NP_115495.3:p.(Lys5421Arg)	NC_000005.9:g.90119307A>G	VUS	1 lab	1dc0dd5213
19:15221457 SYDE1 C>A	19	15221457	15221457	C	A	SYDE1	c.1201C>A	NM_033025.6	NP_149014.3:p.(Pro401Thr)	NC_000019.9:g.15221457C>A	VUS	1 lab	34a0343abf
11:71193072 NADSYN1 G>A	11	71193072	71193072	G	A	NADSYN1	c.1150+1G>A	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71193072G>A	VUS	1 lab	34a2242028
8:144999044 PLEC G>A	8	144999044	144999044	G	A	PLEC	c.5053C>T	NM_201384.3	NP_958786.1:p.(Arg1685Trp)	NC_000008.10:g.144999044G>A	VUS	1 lab	34a3059518
2:69271941 ANTXR1 G>A	2	69271941	69271941	G	A	ANTXR1	c.292G>A	NM_032208.3	NP_115584.1:p.(Asp98Asn)	NC_000002.11:g.69271941G>A	VUS	1 lab	34a33de86f
10:61819564 ANK3 C>T	10	61819564	61819564	C	T	ANK3	c.12596-376G>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61819564C>T	(Likely) benign	1 lab	34a3f5bf0f
10:71582204 COL13A1 C>T	10	71582204	71582204	C	T	COL13A1	c.364+10C>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71582204C>T	(Likely) benign	1 lab	34a420cc26
17:78086450 GAA G>A	17	78086450	78086450	G	A	GAA	c.1828G>A	NM_000152.5	NP_000143.2:p.(Ala610Thr)	NC_000017.10:g.78086450G>A	VUS	1 lab	34a7de6d82
X:77155096 COX7B C>T	X	77155096	77155096	C	T	COX7B	c.40+6C>T	NM_001866.3	NP_001857.1:p.?	NC_000023.10:g.77155096C>T	VUS	1 lab	34a9e34f96
3:52014505 ABHD14A C>T	3	52014505	52014505	C	T	ABHD14A	c.494C>T	NM_015407.5	NP_056222.2:p.(Ala165Val)	NC_000003.11:g.52014505C>T	(Likely) benign	1 lab	34acb7ab1f
5:139930460 SRA1 A>G	5	139930460	139930460	A	G	SRA1	c.500T>C	NM_001035235.4	NP_001030312.3:p.(Ile167Thr)	NC_000005.9:g.139930460A>G	(Likely) benign	1 lab	34ad2e58d9
5:132267910 AFF4 G>C	5	132267910	132267910	G	C	AFF4	c.923C>G	NM_014423.4	NP_055238.1:p.(Ser308Ter)	NC_000005.9:g.132267910G>C	VUS	1 lab	34add16c71
10:32974964 CCDC7 T>G	10	32974964	32974964	T	G	CCDC7	c.2189T>G	NM_001395015.1	NP_001381944.1:p.(Leu730Ter)	NC_000010.10:g.32974964T>G	VUS	1 lab	34aece134b
2:26654745 DRC1 C>T	2	26654745	26654745	C	T	DRC1	c.766-7C>T	NM_145038.5	NP_659475.2:p.?	NC_000002.11:g.26654745C>T	(Likely) benign	1 lab	34af64d775
9:69200423 FOXD4L6 G>T	9	69200423	69200423	G	T	FOXD4L6	c.1190C>A	NM_001085476.4	NP_001078945.1:p.(Thr397Lys)	NC_000009.11:g.69200423G>T	(Likely) benign	1 lab	34af9ae072
11:114113048 ZBTB16 G>A	11	114113048	114113048	G	A	ZBTB16	c.1613G>A	NM_006006.6	NP_005997.2:p.(Arg538His)	NC_000011.9:g.114113048G>A	VUS	1 lab	34afc61336
17:7416683 POLR2A A>ACATCTCCCAGCTACTCG	17	7416683	7416685	A	ACATCTCCCAGCTACTCG	POLR2A	c.5101_5102insATCTCCCAGCTACTCGC	NM_000937.5	NP_000928.1:p.(Pro1701HisfsTer286)	NC_000017.10:g.7416684_7416685insATCTCCCAGCTACTCGC	VUS	1 lab	34afd73763
17:63533556 AXIN2 G>A	17	63533556	63533556	G	A	AXIN2	c.1598C>T	NM_004655.4	NP_004646.3:p.(Ala533Val)	NC_000017.10:g.63533556G>A	VUS	1 lab	34b10ecea8
2:175614900 CHRNA1 G>A	2	175614900	175614900	G	A	CHRNA1	c.779-3C>T	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175614900G>A	(Likely) benign	1 lab	34b5488f91
10:100189287 HPS1 C>T	10	100189287	100189287	C	T	HPS1	c.937+43G>A	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100189287C>T	VUS	1 lab	34b66e256e
22:50962117 SCO2 C>T	22	50962117	50962117	C	T	SCO2	c.724G>A	NM_005138.3	NP_005129.2:p.(Gly242Ser)	NC_000022.10:g.50962117C>T	VUS	1 lab	34b9ba20a1
16:66806601 TERB1 G>A	16	66806601	66806601	G	A	TERB1	c.1163C>T	NM_001136505.2	NP_001129977.1:p.(Thr388Ile)	NC_000016.9:g.66806601G>A	VUS	1 lab	34ba6adf30
19:15355353 BRD4 G>A	19	15355353	15355353	G	A	BRD4	c.2270C>T	NM_001379291.1	NP_001366220.1:p.(Pro757Leu)	NC_000019.9:g.15355353G>A	(Likely) benign	1 lab	34ba6c803a
12:9085462 PHC1 C>A	12	9085462	9085462	C	A	PHC1	c.1409C>A	NM_004426.3	NP_004417.2:p.(Thr470Asn)	NC_000012.11:g.9085462C>A	(Likely) benign	1 lab	34bc9bc9b1
1:173800759 DARS2 C>G	1	173800759	173800759	C	G	DARS2	c.483C>G	NM_018122.5	NP_060592.2:p.(Asn161Lys)	NC_000001.10:g.173800759C>G	VUS	1 lab	34bd5b3c73
2:20145637 WDR35 G>A	2	20145637	20145637	G	A	WDR35	c.1788C>T	NM_001006657.2	NP_001006658.1:p.(Val596=)	NC_000002.11:g.20145637G>A	(Likely) benign	1 lab	1dc58a8605
11:77612522 INTS4 T>C	11	77612522	77612522	T	C	INTS4	c.2173A>G	NM_033547.4	NP_291025.3:p.(Met725Val)	NC_000011.9:g.77612522T>C	VUS	1 lab	34bf6a9409
15:99511918 PGPEP1L C>G	15	99511918	99511918	C	G	PGPEP1L	c.218G>C	NM_001167902.2	NP_001161374.1:p.(Cys73Ser)	NC_000015.9:g.99511918C>G	VUS	1 lab	34c015b652
16:2140448 PKD1 C>T	16	2140448	2140448	C	T	PKD1	c.12282G>A	NM_001009944.3	NP_001009944.3:p.(Arg4094=)	NC_000016.9:g.2140448C>T	(Likely) benign	1 lab	34c173fa1a
19:13113729 NFIX A>G	19	13113729	13113729	A	G	NFIX	c.27+7051A>G	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13113729A>G	(Likely) benign	1 lab	34c4a4f659
18:24035775 KCTD1 G>A	18	24035775	24035775	G	A	KCTD1	c.2530C>T	NM_001142730.3	NP_001136202.1:p.(Arg844Trp)	NC_000018.9:g.24035775G>A	(Likely) benign	1 lab	34c5017a13
6:117250005 RFX6 A>ATTCG	6	117250005	117250012	A	ATTCG	RFX6	c.2486_2489dup	NM_173560.4	NP_775831.2:p.(Leu831PhefsTer7)	NC_000006.11:g.117250009_117250012dup	VUS	1 lab	34c5b9fcd7
17:73775265 H3-3B C>T	17	73775265	73775265	C	T	H3-3B	c.-10G>A	NM_005324.5	NP_005315.1:p.?	NC_000017.10:g.73775265C>T	VUS	1 lab	34c5c3222d
6:45390443 RUNX2 C>G	6	45390443	45390443	C	G	RUNX2	c.172C>G	NM_001024630.4	NP_001019801.3:p.(Gln58Glu)	NC_000006.11:g.45390443C>G	(Likely) benign	1 lab	34c69dad1c
12:106773806 POLR3B T>C	12	106773806	106773806	T	C	POLR3B	c.615-3T>C	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106773806T>C	(Likely) benign	1 lab	34c7794c07
9:386429 DOCK8 A>G	9	386429	386429	A	G	DOCK8	c.2874+3A>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.386429A>G	VUS	1 lab	34c7980fe9
17:78063989 CCDC40 G>T	17	78063989	78063989	G	T	CCDC40	c.2832+306G>T	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063989G>T	(Likely) benign	1 lab	34c7a53462
1:22190684 HSPG2 C>T	1	22190684	22190684	C	T	HSPG2	c.4649G>A	NM_005529.7	NP_005520.4:p.(Arg1550His)	NC_000001.10:g.22190684C>T	VUS	1 lab	34c8576d0c
4:96036832 BMPR1B A>G	4	96036832	96036832	A	G	BMPR1B	c.247-4A>G	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.96036832A>G	(Likely) benign	1 lab	34c8e0c396
2:219738458 WNT6 G>A	2	219738458	219738458	G	A	WNT6	c.989G>A	NM_006522.4	NP_006513.1:p.(Arg330His)	NC_000002.11:g.219738458G>A	(Likely) benign	1 lab	34ca28b528
14:64680932 SYNE2 G>T	14	64680932	64680932	G	T	SYNE2	c.19077G>T	NM_182914.3	NP_878918.2:p.(Glu6359Asp)	NC_000014.8:g.64680932G>T	VUS	1 lab	34ca833034
22:19754306 TBX1 CGCTGCCGCA>C	22	19754306	19754323	CGCTGCCGCA	C	TBX1	c.1440_1448del	NM_001379200.1	NP_001366129.1:p.(Ala483_Ala485del)	NC_000022.10:g.19754315_19754323del	(Likely) benign	1 lab	34cb43c1a2
3:184038717 EIF4G1 G>A	3	184038717	184038717	G	A	EIF4G1	c.633G>A	NM_198241.3	NP_937884.2:p.(Thr211=)	NC_000003.11:g.184038717G>A	VUS	1 lab	34d01777ee
X:100910891 ARMCX2 C>T	X	100910891	100910891	C	T	ARMCX2	c.1684G>A	NM_177949.4	NP_808818.1:p.(Val562Met)	NC_000023.10:g.100910891C>T	(Likely) benign	1 lab	34d116792a
19:13136285 NFIX G>A	19	13136285	13136285	G	A	NFIX	c.478G>A	NM_001365902.3	NP_001352831.1:p.(Gly160Ser)	NC_000019.9:g.13136285G>A	VUS	1 lab	34d4f78ec4
2:238249484 COL6A3 T>C	2	238249484	238249484	T	C	COL6A3	c.8075A>G	NM_004369.4	NP_004360.2:p.(Tyr2692Cys)	NC_000002.11:g.238249484T>C	VUS	1 lab	34d50cd09a
16:347929 AXIN1 G>A	16	347929	347929	G	A	AXIN1	c.1577C>T	NM_003502.4	NP_003493.1:p.(Ala526Val)	NC_000016.9:g.347929G>A	(Likely) benign	1 lab	34d752af96
7:73474387 ELN A>T	7	73474387	73474387	A	T	ELN	c.1663+10A>T	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73474387A>T	(Likely) benign	1 lab	393ce18e36
4:5785411 EVC G>A	4	5785411	5785411	G	A	EVC	c.1696G>A	NM_153717.3	NP_714928.1:p.(Ala566Thr)	NC_000004.11:g.5785411G>A	(Likely) benign	1 lab	34d9eb532c
9:35741033 GBA2 A>G	9	35741033	35741033	A	G	GBA2	c.815T>C	NM_020944.3	NP_065995.1:p.(Val272Ala)	NC_000009.11:g.35741033A>G	(Likely) benign	1 lab	34dc2420ca
17:21318826 KCNJ12 G>A	17	21318826	21318826	G	A	KCNJ12	c.172G>A	NM_021012.5	NP_066292.2:p.(Ala58Thr)	NC_000017.10:g.21318826G>A	(Likely) benign	1 lab	34dcd03917
2:230683232 TRIP12 T>TAG	2	230683232	230683237	T	TAG	TRIP12	c.1451-6_1451-5dup	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230683236_230683237dup	(Likely) benign	1 lab	34dd3dc8e4
11:118379841 KMT2A T>C	11	118379841	118379841	T	C	KMT2A	c.10836-10T>C	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118379841T>C	(Likely) benign	1 lab	34dd48f18a
5:139508154 IGIP A>C	5	139508154	139508154	A	C	IGIP	c.93A>C	NM_001007189.2	NP_001007190.1:p.(Lys31Asn)	NC_000005.9:g.139508154A>C	VUS	1 lab	34e048e372
6:50807904 TFAP2B A>C	6	50807904	50807904	A	C	TFAP2B	c.976A>C	NM_003221.4	NP_003212.2:p.(Ile326Leu)	NC_000006.11:g.50807904A>C	VUS	1 lab	34e0f4ff04
7:42004062 GLI3 G>C	7	42004062	42004062	G	C	GLI3	c.4609C>G	NM_000168.6	NP_000159.3:p.(Arg1537Gly)	NC_000007.13:g.42004062G>C	VUS	1 lab	34e1ad468d
5:139494188 PURA G>C	5	139494188	139494188	G	C	PURA	c.422G>C	NM_005859.5	NP_005850.1:p.(Arg141Pro)	NC_000005.9:g.139494188G>C	VUS	1 lab	34e1beb551
1:152192345 HRNR T>C	1	152192345	152192345	T	C	HRNR	c.1760A>G	NM_001009931.3	NP_001009931.1:p.(Gln587Arg)	NC_000001.10:g.152192345T>C	(Likely) benign	1 lab	34e3ec07f9
5:13902177 DNAH5 A>C	5	13902177	13902177	A	C	DNAH5	c.1715T>G	NM_001369.3	NP_001360.1:p.(Leu572Trp)	NC_000005.9:g.13902177A>C	VUS	1 lab	34e45d4cd5
16:3832765 CREBBP G>A	16	3832765	3832765	G	A	CREBBP	c.1493C>T	NM_004380.3	NP_004371.2:p.(Thr498Met)	NC_000016.9:g.3832765G>A	(Likely) benign	1 lab	34e62efefc
1:186908180 PLA2G4A A>C	1	186908180	186908180	A	C	PLA2G4A	c.736A>C	NM_024420.3	NP_077734.2:p.(Lys246Gln)	NC_000001.10:g.186908180A>C	(Likely) benign	1 lab	34e8c4a48d
1:10042407 NMNAT1 T>C	1	10042407	10042407	T	C	NMNAT1	c.488T>C	NM_022787.4	NP_073624.2:p.(Phe163Ser)	NC_000001.10:g.10042407T>C	VUS	1 lab	34e8ed4394
13:99038049 FARP1 C>T	13	99038049	99038049	C	T	FARP1	c.740C>T	NM_005766.4	NP_005757.1:p.(Thr247Met)	NC_000013.10:g.99038049C>T	(Likely) benign	1 lab	34e8f55391
10:89473066 PAPSS2 AGGT>A	10	89473066	89473069	AGGT	A	PAPSS2	c.381_381+2del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473067_89473069del	(Likely) benign	1 lab	34e946ccc0
X:50339783 SHROOM4 T>C	X	50339783	50339783	T	C	SHROOM4	c.4394A>G	NM_020717.5	NP_065768.2:p.(Gln1465Arg)	NC_000023.10:g.50339783T>C	VUS	1 lab	34ea22a1ce
10:90695095 ACTA2 G>C	10	90695095	90695095	G	C	ACTA2	c.1019C>G	NM_001613.4	NP_001604.1:p.(Ser340Cys)	NC_000010.10:g.90695095G>C	VUS	1 lab	34ec63e198
8:118849384 EXT1 C>T	8	118849384	118849384	C	T	EXT1	c.1019G>A	NM_000127.3	NP_000118.2:p.(Arg340His)	NC_000008.10:g.118849384C>T	(Likely) pathogenic	1 lab	34ecd0d704
21:47783581 PCNT G>A	21	47783581	47783581	G	A	PCNT	c.2341G>A	NM_006031.6	NP_006022.3:p.(Glu781Lys)	NC_000021.8:g.47783581G>A	VUS	1 lab	34ee0e64cf
16:8988429 USP7 C>G	16	8988429	8988429	C	G	USP7	c.3180G>C	NM_003470.3	NP_003461.2:p.(Leu1060Phe)	NC_000016.9:g.8988429C>G	VUS	1 lab	34ee5cb625
15:32929156 ARHGAP11A TC>T	15	32929156	32929160	TC	T	ARHGAP11A	c.2186del	NM_014783.6	NP_055598.1:p.(Pro729GlnfsTer5)	NC_000015.9:g.32929160del	VUS	1 lab	34eea9c970
13:108862292 LIG4 T>C	13	108862292	108862292	T	C	LIG4	c.1325A>G	NM_206937.2	NP_996820.1:p.(Lys442Arg)	NC_000013.10:g.108862292T>C	VUS	1 lab	35016c038c
1:27101057 ARID1A C>G	1	27101057	27101057	C	G	ARID1A	c.4339C>G	NM_006015.6	NP_006006.3:p.(Pro1447Ala)	NC_000001.10:g.27101057C>G	(Likely) benign	1 lab	34f18c205b
3:111280928 CD96 C>T	3	111280928	111280928	C	T	CD96	c.419-5442C>T	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111280928C>T	(Likely) benign	1 lab	34f278fcc9
10:131676080 EBF3 C>A	10	131676080	131676080	C	A	EBF3	c.588G>T	NM_001375380.1	NP_001362309.1:p.(Gln196His)	NC_000010.10:g.131676080C>A	(Likely) pathogenic	1 lab	34f31420c4
15:91424905 FURIN G>A	15	91424905	91424905	G	A	FURIN	c.2182G>A	NM_002569.4	NP_002560.1:p.(Val728Ile)	NC_000015.9:g.91424905G>A	VUS	1 lab	34f3baba6c
21:47746498 PCNT G>A	21	47746498	47746498	G	A	PCNT	c.262G>A	NM_006031.6	NP_006022.3:p.(Ala88Thr)	NC_000021.8:g.47746498G>A	VUS	1 lab	34f4308e70
1:152382123 CRNN G>A	1	152382123	152382123	G	A	CRNN	c.1435C>T	NM_016190.3	NP_057274.1:p.(Arg479Ter)	NC_000001.10:g.152382123G>A	VUS	1 lab	350323396b
15:91423991 FURIN C>G	15	91423991	91423991	C	G	FURIN	c.1627C>G	NM_002569.4	NP_002560.1:p.(Pro543Ala)	NC_000015.9:g.91423991C>G	VUS	1 lab	34f5d71889
22:19867772 TXNRD2 G>A	22	19867772	19867772	G	A	TXNRD2	c.1205C>T	NM_006440.5	NP_006431.2:p.(Pro402Leu)	NC_000022.10:g.19867772G>A	VUS	1 lab	34f612c3d4
X:100748572 ARMCX4 G>A	X	100748572	100748572	G	A	ARMCX4	c.4996G>A	NM_001256155.3	NP_001243084.2:p.(Ala1666Thr)	NC_000023.10:g.100748572G>A	VUS	1 lab	34f738d0d3
9:12709147 TYRP1 G>GAA	9	12709147	12709152	G	GAA	TYRP1	c.1583_1584dup	NM_000550.3	NP_000541.1:p.(Leu529AsnfsTer27)	NC_000009.11:g.12709151_12709152dup	VUS	1 lab	34f88ddb07
19:54965825 LENG8 C>T	19	54965825	54965825	C	T	LENG8	c.643C>T	NM_052925.4	NP_443157.1:p.(Pro215Ser)	NC_000019.9:g.54965825C>T	(Likely) benign	1 lab	34fb9684bc
19:39019230 RYR1 C>T	19	39019230	39019230	C	T	RYR1	c.10938-9C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39019230C>T	(Likely) benign	1 lab	34fd638dc1
7:107822355 NRCAM G>A	7	107822355	107822355	G	A	NRCAM	c.2557C>T	NM_001037132.4	NP_001032209.1:p.(Arg853Cys)	NC_000007.13:g.107822355G>A	VUS	1 lab	34fe1dcd63
22:38370173 SOX10 T>G	22	38370173	38370173	T	G	SOX10	c.730A>C	NM_006941.4	NP_008872.1:p.(Thr244Pro)	NC_000022.10:g.38370173T>G	(Likely) benign	1 lab	350063f079
1:162724965 DDR2 A>G	1	162724965	162724965	A	G	DDR2	c.437A>G	NM_006182.4	NP_006173.2:p.(Asn146Ser)	NC_000001.10:g.162724965A>G	VUS	1 lab	350074187d
15:34649064 NUTM1 A>G	15	34649064	34649064	A	G	NUTM1	c.2855A>G	NM_001284292.2	NP_001271221.2:p.(Asn952Ser)	NC_000015.9:g.34649064A>G	(Likely) benign	1 lab	35028d689a
X:153001611 ABCD1 A>C	X	153001611	153001611	A	C	ABCD1	c.1127A>C	NM_000033.4	NP_000024.2:p.(Glu376Ala)	NC_000023.10:g.153001611A>C	(Likely) benign	1 lab	350402087d
14:75150125 AREL1 G>C	14	75150125	75150125	G	C	AREL1	c.355C>G	NM_001039479.2	NP_001034568.1:p.(Gln119Glu)	NC_000014.8:g.75150125G>C	(Likely) benign	1 lab	350408e292
1:1423294 ATAD3B T>C	1	1423294	1423294	T	C	ATAD3B	c.1266T>C	NM_031921.6	NP_114127.3:p.(Thr422=)	NC_000001.10:g.1423294T>C	(Likely) benign	1 lab	35045aa7b4
12:65136922 GNS G>A	12	65136922	65136922	G	A	GNS	c.791C>T	NM_002076.4	NP_002067.1:p.(Thr264Met)	NC_000012.11:g.65136922G>A	VUS	1 lab	350490e865
19:4007772 PIAS4 T>TGTACCAGCGCATCAACACCGGTCGCAATGATGCCTG	19	4007772	4007774	T	TGTACCAGCGCATCAACACCGGTCGCAATGATGCCTG	PIAS4	c.15_16insTACCAGCGCATCAACACCGGTCGCAATGATGCCTGG	NM_015897.4	NP_056981.2:p.(Leu5_Val6insTyrGlnArgIleAsnThrGlyArgAsnAspAlaTrp)	NC_000019.9:g.4007773_4007774insTACCAGCGCATCAACACCGGTCGCAATGATGCCTGG	(Likely) benign	1 lab	3504bf8570
21:45503190 TRAPPC10 G>T	21	45503190	45503190	G	T	TRAPPC10	c.2238+7G>T	NM_003274.5	NP_003265.3:p.?	NC_000021.8:g.45503190G>T	(Likely) benign	1 lab	350638bc13
4:191003299 MISSING C>T	4	191003299	191003299	C	T	MISSING				NC_000004.11:g.191003299C>T	VUS	1 lab	3507d7d7aa
15:99500381 IGF1R C>T	15	99500381	99500381	C	T	IGF1R	c.3814C>T	NM_000875.5	NP_000866.1:p.(Pro1272Ser)	NC_000015.9:g.99500381C>T	(Likely) benign	1 lab	350a5f7dc0
3:121981263 CASR C>T	3	121981263	121981263	C	T	CASR	c.1377+4C>T	NM_000388.4	NP_000379.3:p.?	NC_000003.11:g.121981263C>T	VUS	1 lab	350a99eed0
17:42987562 GFAP CGTATT>C	17	42987562	42987569	CGTATT	C	GFAP	c.1171+416_1171+420del	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987565_42987569del	VUS	1 lab	350ac06bba
19:50314960 FUZ G>C	19	50314960	50314960	G	C	FUZ	c.319-4C>G	NM_025129.5	NP_079405.2:p.?	NC_000019.9:g.50314960G>C	(Likely) benign	1 lab	350ad97283
14:23888392 MYH7 C>T	14	23888392	23888392	C	T	MYH7	c.3966G>A	NM_000257.4	NP_000248.2:p.(Glu1322=)	NC_000014.8:g.23888392C>T	(Likely) benign	1 lab	1d4038323c
7:103136210 RELN C>T	7	103136210	103136210	C	T	RELN	c.9329G>A	NM_005045.4	NP_005036.2:p.(Arg3110Gln)	NC_000007.13:g.103136210C>T	VUS	1 lab	350bf8169a
17:8413180 MYH10 T>C	17	8413180	8413180	T	C	MYH10	c.3040A>G	NM_001256012.3	NP_001242941.1:p.(Met1014Val)	NC_000017.10:g.8413180T>C	(Likely) benign	1 lab	350f5c6f40
1:2338177 PEX10 C>T	1	2338177	2338177	C	T	PEX10	c.758G>A	NM_002617.4	NP_002608.1:p.(Arg253His)	NC_000001.10:g.2338177C>T	VUS	1 lab	350fa40791
20:43052762 HNF4A C>T	20	43052762	43052762	C	T	HNF4A	c.997C>T	NM_000457.5	NP_000448.3:p.(Arg333Cys)	NC_000020.10:g.43052762C>T	(Likely) pathogenic	1 lab	3515edb7fc
2:179563609 TTN T>C	2	179563609	179563609	T	C	TTN	c.30715A>G	NM_001267550.2	NP_001254479.2:p.(Lys10239Glu)	NC_000002.11:g.179563609T>C	VUS	1 lab	351b0d702e
7:152099234 KMT2C C>A	7	152099234	152099234	C	A	KMT2C	c.161+33477G>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099234C>A	(Likely) benign	1 lab	351b39a6b0
16:72831600 ZFHX3 T>C	16	72831600	72831600	T	C	ZFHX3	c.4981A>G	NM_006885.4	NP_008816.3:p.(Asn1661Asp)	NC_000016.9:g.72831600T>C	(Likely) benign	1 lab	351bc80c6d
X:65253355 VSIG4 C>A	X	65253355	65253355	C	A	VSIG4	c.373G>T	NM_007268.3	NP_009199.1:p.(Val125Phe)	NC_000023.10:g.65253355C>A	VUS	1 lab	351c5f7d3d
12:56349572 PMEL C>T	12	56349572	56349572	C	T	PMEL	c.1547G>A	NM_001384361.1	NP_001371290.1:p.(Cys516Tyr)	NC_000012.11:g.56349572C>T	VUS	1 lab	3520714396
3:38318464 SLC22A13 G>C	3	38318464	38318464	G	C	SLC22A13	c.1408G>C	NM_004256.4	NP_004247.2:p.(Val470Leu)	NC_000003.11:g.38318464G>C	(Likely) benign	1 lab	35208153fe
16:1841340 IGFALS C>T	16	1841340	1841340	C	T	IGFALS	c.1079G>A	NM_004970.3	NP_004961.1:p.(Gly360Asp)	NC_000016.9:g.1841340C>T	VUS	1 lab	3520e58c32
12:122260531 SETD1B C>G	12	122260531	122260531	C	G	SETD1B	c.4046C>G	NM_001353345.2	NP_001340274.1:p.(Ser1349Cys)	NC_000012.11:g.122260531C>G	(Likely) benign	1 lab	1d4269b757
X:85119800 CHM G>C	X	85119800	85119800	G	C	CHM	c.1797C>G	NM_000390.4	NP_000381.1:p.(Cys599Trp)	NC_000023.10:g.85119800G>C	VUS	1 lab	3522ce1c10
2:25469148 DNMT3A G>A	2	25469148	25469148	G	A	DNMT3A	c.1310C>T	NM_022552.5	NP_072046.2:p.(Thr437Met)	NC_000002.11:g.25469148G>A	(Likely) benign	1 lab	3525008014
6:3127600 BPHL C>G	6	3127600	3127600	C	G	BPHL	c.336C>G	NM_004332.4	NP_004323.2:p.(Asp112Glu)	NC_000006.11:g.3127600C>G	(Likely) benign	1 lab	3525b5049f
17:77081337 ENGASE G>A	17	77081337	77081337	G	A	ENGASE	c.1613G>A	NM_001042573.3	NP_001036038.1:p.(Ser538Asn)	NC_000017.10:g.77081337G>A	VUS	1 lab	3527d06a73
13:28494397 PDX1 A>G	13	28494397	28494397	A	G	PDX1	c.122A>G	NM_000209.4	NP_000200.1:p.(Gln41Arg)	NC_000013.10:g.28494397A>G	VUS	1 lab	352857a656
11:76867967 MYO7A GACATCC>G	11	76867967	76867975	GACATCC	G	MYO7A	c.655_660del	NM_000260.4	NP_000251.3:p.(Ile219_His220del)	NC_000011.9:g.76867970_76867975del	VUS	1 lab	352881a7b7
21:44492157 CBS C>T	21	44492157	44492157	C	T	CBS	c.147G>A	NM_000071.3	NP_000062.1:p.(Pro49=)	NC_000021.8:g.44492157C>T	(Likely) benign	1 lab	352a39cef2
17:78272239 RNF213 G>A	17	78272239	78272239	G	A	RNF213	c.2131G>A	NM_001256071.3	NP_001243000.2:p.(Ala711Thr)	NC_000017.10:g.78272239G>A	VUS	1 lab	352aaf32e8
2:73835637 ALMS1 GAGA>G	2	73835637	73835646	GAGA	G	ALMS1	c.12405_12407del	NM_001378454.1	NP_001365383.1:p.(Glu4136del)	NC_000002.11:g.73835644_73835646del	VUS	1 lab	352bb364f5
1:237675033 RYR2 T>A	1	237675033	237675033	T	A	RYR2	c.2764T>A	NM_001035.3	NP_001026.2:p.(Ser922Thr)	NC_000001.10:g.237675033T>A	VUS	1 lab	352bebbcfd
3:47066184 SETD2 C>A	3	47066184	47066184	C	A	SETD2	c.7351-4854G>T	NM_014159.7	NP_054878.5:p.?	NC_000003.11:g.47066184C>A	(Likely) benign	1 lab	352e428b8d
19:11097100 SMARCA4 C>A	19	11097100	11097100	C	A	SMARCA4	c.591C>A	NM_003072.5	NP_003063.2:p.(Pro197=)	NC_000019.9:g.11097100C>A	(Likely) benign	1 lab	352eb39b14
10:131638509 EBF3 C>T	10	131638509	131638509	C	T	EBF3	c.1759G>A	NM_001375380.1	NP_001362309.1:p.(Gly587Ser)	NC_000010.10:g.131638509C>T	VUS	1 lab	352ef39234
7:79082509 MAGI2 T>A	7	79082509	79082509	T	A	MAGI2	c.128A>T	NM_012301.4	NP_036433.2:p.(Tyr43Phe)	NC_000007.13:g.79082509T>A	VUS	1 lab	3530a46874
12:65563432 LEMD3 C>T	12	65563432	65563432	C	T	LEMD3	c.56C>T	NM_014319.5	NP_055134.2:p.(Ser19Phe)	NC_000012.11:g.65563432C>T	VUS	1 lab	353182f04d
17:39767731 KRT16 G>A	17	39767731	39767731	G	A	KRT16	c.637C>T	NM_005557.4	NP_005548.2:p.(Arg213Trp)	NC_000017.10:g.39767731G>A	(Likely) benign	1 lab	1d428fed9d
3:38627457 SCN5A C>T	3	38627457	38627457	C	T	SCN5A	c.2512G>A	NM_001099404.2	NP_001092874.1:p.(Ala838Thr)	NC_000003.11:g.38627457C>T	(Likely) pathogenic	1 lab	1d45f413b0
5:137715339 KDM3B A>G	5	137715339	137715339	A	G	KDM3B	c.647A>G	NM_016604.4	NP_057688.3:p.(Tyr216Cys)	NC_000005.9:g.137715339A>G	(Likely) benign	1 lab	3532e617db
15:49030510 CEP152 A>T	15	49030510	49030510	A	T	CEP152	c.5069T>A	NM_001194998.2	NP_001181927.1:p.(Leu1690Ter)	NC_000015.9:g.49030510A>T	(Likely) benign	1 lab	3533e61df0
9:2083055 SMARCA2 G>T	9	2083055	2083055	G	T	SMARCA2	c.2349-292G>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2083055G>T	(Likely) benign	1 lab	353488761e
15:43028278 CDAN1 T>G	15	43028278	43028278	T	G	CDAN1	c.570-2A>C	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43028278T>G	VUS	1 lab	353560e2d0
12:6623474 NCAPD2 A>T	12	6623474	6623474	A	T	NCAPD2	c.631A>T	NM_014865.4	NP_055680.3:p.(Ile211Phe)	NC_000012.11:g.6623474A>T	VUS	1 lab	3535b14030
9:137697071 COL5A1 G>A	9	137697071	137697071	G	A	COL5A1	c.3258+11G>A	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137697071G>A	(Likely) benign	1 lab	1dcc989c73
22:46653273 PKDREJ C>T	22	46653273	46653273	C	T	PKDREJ	c.5947G>A	NM_006071.2	NP_006062.1:p.(Gly1983Ser)	NC_000022.10:g.46653273C>T	(Likely) benign	1 lab	353879523d
1:100379110 AGL A>G	1	100379110	100379110	A	G	AGL	c.3977A>G	NM_000642.3	NP_000633.2:p.(Glu1326Gly)	NC_000001.10:g.100379110A>G	VUS	1 lab	35397dd248
X:80001186 BRWD3 A>G	X	80001186	80001186	A	G	BRWD3	c.473T>C	NM_153252.5	NP_694984.5:p.(Phe158Ser)	NC_000023.10:g.80001186A>G	VUS	1 lab	353a0d1744
2:240036921 HDAC4 A>G	2	240036921	240036921	A	G	HDAC4	c.1619T>C	NM_001378414.1	NP_001365343.1:p.(Leu540Pro)	NC_000002.11:g.240036921A>G	VUS	1 lab	353a6b2df1
20:60892538 LAMA5 G>A	20	60892538	60892538	G	A	LAMA5	c.7374C>T	NM_005560.6	NP_005551.3:p.(Ala2458=)	NC_000020.10:g.60892538G>A	(Likely) benign	1 lab	353c72648d
1:7797550 CAMTA1 G>T	1	7797550	7797550	G	T	CAMTA1	c.3578G>T	NM_015215.4	NP_056030.1:p.(Trp1193Leu)	NC_000001.10:g.7797550G>T	VUS	1 lab	353d6d8e11
13:73349350 DIS3 A>G	13	73349350	73349350	A	G	DIS3	c.986T>C	NM_014953.5	NP_055768.3:p.(Met329Thr)	NC_000013.10:g.73349350A>G	(Likely) benign	1 lab	353eaeb691
9:37733752 FRMPD1 G>A	9	37733752	37733752	G	A	FRMPD1	c.1148G>A	NM_014907.3	NP_055722.2:p.(Arg383His)	NC_000009.11:g.37733752G>A	(Likely) benign	1 lab	3540ca36d8
19:3750591 TJP3 G>A	19	3750591	3750591	G	A	TJP3	c.2669G>A	NM_001267560.2	NP_001254489.1:p.(Arg890Gln)	NC_000019.9:g.3750591G>A	VUS	1 lab	3540cc4346
19:55087418 LILRA2 A>G	19	55087418	55087418	A	G	LILRA2	c.1097A>G	NM_001130917.3	NP_001124389.2:p.(His366Arg)	NC_000019.9:g.55087418A>G	(Likely) benign	1 lab	35412432bd
5:176024281 GPRIN1 G>A	5	176024281	176024281	G	A	GPRIN1	c.2555C>T	NM_052899.3	NP_443131.2:p.(Pro852Leu)	NC_000005.9:g.176024281G>A	(Likely) benign	1 lab	35413a913e
1:120468285 NOTCH2 T>C	1	120468285	120468285	T	C	NOTCH2	c.4154A>G	NM_024408.4	NP_077719.2:p.(His1385Arg)	NC_000001.10:g.120468285T>C	(Likely) benign	1 lab	35438333dd
16:88781115 CTU2 CCCAGCGCTGT>C	16	88781115	88781125	CCCAGCGCTGT	C	CTU2	c.1323_1332del	NM_001012759.3	NP_001012777.1:p.(Gln442AlafsTer24)	NC_000016.9:g.88781116_88781125del	VUS	1 lab	3543f93853
20:43052763 HNF4A G>T	20	43052763	43052763	G	T	HNF4A	c.998G>T	NM_000457.5	NP_000448.3:p.(Arg333Leu)	NC_000020.10:g.43052763G>T	(Likely) pathogenic	1 lab	3546d6c465
16:30749559 SRCAP A>C	16	30749559	30749559	A	C	SRCAP	c.8198A>C	NM_006662.3	NP_006653.2:p.(Gln2733Pro)	NC_000016.9:g.30749559A>C	VUS	1 lab	3547eb3ca5
7:140481379 BRAF G>A	7	140481379	140481379	G	A	BRAF	c.1429C>T	NM_004333.6	NP_004324.2:p.(His477Tyr)	NC_000007.13:g.140481379G>A	(Likely) benign	1 lab	354ad1afa0
X:48932876 WDR45 C>T	X	48932876	48932876	C	T	WDR45	c.892G>A	NM_001029896.2	NP_001025067.1:p.(Ala298Thr)	NC_000023.10:g.48932876C>T	VUS	1 lab	354aec2277
13:32893238 BRCA2 G>A	13	32893238	32893238	G	A	BRCA2	c.92G>A	NM_000059.4	NP_000050.3:p.(Trp31Ter)	NC_000013.10:g.32893238G>A	(Likely) pathogenic	1 lab	354b1d6bf8
15:44907703 SPG11 G>T	15	44907703	44907703	G	T	SPG11	c.2896C>A	NM_025137.4	NP_079413.3:p.(Arg966Ser)	NC_000015.9:g.44907703G>T	VUS	1 lab	354c8085ad
19:40392026 FCGBP C>T	19	40392026	40392026	C	T	FCGBP	c.8360G>A	NM_003890.3	NP_003881.2:p.(Gly2787Asp)	NC_000019.9:g.40392026C>T	VUS	1 lab	354fcd1557
7:130137787 MEST G>T	7	130137787	130137787	G	T	MEST	c.272G>T	NM_002402.4	NP_002393.2:p.(Gly91Val)	NC_000007.13:g.130137787G>T	(Likely) benign	1 lab	3550a77aa4
8:27634268 ESCO2 A>G	8	27634268	27634268	A	G	ESCO2	c.443A>G	NM_001017420.3	NP_001017420.1:p.(Tyr148Cys)	NC_000008.10:g.27634268A>G	(Likely) benign	1 lab	355143c205
13:50070141 PHF11 GCCCAGGCGTCGCCGCCCCGGC>G	13	50070141	50070164	GCCCAGGCGTCGCCGCCCCGGC	G	PHF11	c.7_27del	NM_001040443.3	NP_001035533.1:p.(Gln3_Pro9del)	NC_000013.10:g.50070144_50070164del	VUS	1 lab	3551d8b4a0
3:172165973 GHSR G>C	3	172165973	172165973	G	C	GHSR	c.231C>G	NM_198407.2	NP_940799.1:p.(Thr77=)	NC_000003.11:g.172165973G>C	(Likely) benign	1 lab	3552a9f56e
4:15569014 CC2D2A C>T	4	15569014	15569014	C	T	CC2D2A	c.3197C>T	NM_001378615.1	NP_001365544.1:p.(Pro1066Leu)	NC_000004.11:g.15569014C>T	(Likely) benign	1 lab	3555226733
11:539578 LRRC56 A>T	11	539578	539578	A	T	LRRC56	c.-158-2A>T	NM_198075.4	NP_932341.1:p.?	NC_000011.9:g.539578A>T	(Likely) benign	1 lab	35559f4f8a
4:79296932 FRAS1 G>T	4	79296932	79296932	G	T	FRAS1	c.3191G>T	NM_025074.7	NP_079350.5:p.(Arg1064Leu)	NC_000004.11:g.79296932G>T	(Likely) benign	1 lab	3556e1e859
9:135945984 CEL C>T	9	135945984	135945984	C	T	CEL	c.1423C>T	NM_001807.6	NP_001798.3:p.(Pro475Ser)	NC_000009.11:g.135945984C>T	(Likely) benign	1 lab	3557f59377
7:94057177 COL1A2 G>A	7	94057177	94057177	G	A	COL1A2	c.3506G>A	NM_000089.4	NP_000080.2:p.(Ser1169Asn)	NC_000007.13:g.94057177G>A	(Likely) benign	1 lab	355807a95b
16:53469660 RBL2 T>G	16	53469660	53469660	T	G	RBL2	c.240+952T>G	NM_005611.4	NP_005602.3:p.?	NC_000016.9:g.53469660T>G	VUS	1 lab	35596c0703
11:117306360 DSCAML1 C>T	11	117306360	117306360	C	T	DSCAML1	c.4876G>A	NM_020693.4	NP_065744.3:p.(Asp1626Asn)	NC_000011.9:g.117306360C>T	VUS	1 lab	3559cf409e
16:72094221 HP C>T	16	72094221	72094221	C	T	HP	c.653C>T	NM_005143.5	NP_005134.1:p.(Ala218Val)	NC_000016.9:g.72094221C>T	VUS	1 lab	3608d3937a
3:49759369 GMPPB T>TGC	3	49759369	49759370	T	TGC	GMPPB	c.951+28_951+29insGC	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49759369_49759370insGC	(Likely) benign	1 lab	355a685869
16:2155984 PKD1 G>A	16	2155984	2155984	G	A	PKD1	c.7745C>T	NM_001009944.3	NP_001009944.3:p.(Thr2582Met)	NC_000016.9:g.2155984G>A	(Likely) benign	1 lab	355b6e55d2
14:57863591 NAA30 T>C	14	57863591	57863591	T	C	NAA30	c.893T>C	NM_001011713.3	NP_001011713.2:p.(Ile298Thr)	NC_000014.8:g.57863591T>C	VUS	1 lab	355b9c7b0d
X:108911384 ACSL4 T>C	X	108911384	108911384	T	C	ACSL4	c.1261A>G	NM_001318510.2	NP_001305439.1:p.(Ile421Val)	NC_000023.10:g.108911384T>C	(Likely) benign	1 lab	355d35dec1
X:110987953 ALG13 T>TACCACCACC	X	110987953	110987998	T	TACCACCACC	ALG13	c.2790_2798dup	NM_001099922.3	NP_001093392.1:p.(Pro943_Pro945dup)	NC_000023.10:g.110987990_110987998dup	(Likely) benign	1 lab	355f0e164d
22:28195659 MN1 C>G	22	28195659	28195659	C	G	MN1	c.873G>C	NM_002430.3	NP_002421.3:p.(Gln291His)	NC_000022.10:g.28195659C>G	(Likely) benign	1 lab	3560597360
19:4090682 MAP2K2 C>T	19	4090682	4090682	C	T	MAP2K2	c.1117G>A	NM_030662.4	NP_109587.1:p.(Glu373Lys)	NC_000019.9:g.4090682C>T	VUS	1 lab	35619db5ce
11:111657218 ALG9 T>C	11	111657218	111657218	T	C	ALG9	c.1760A>G	NM_024740.2	NP_079016.2:p.(Tyr587Cys)	NC_000011.9:g.111657218T>C	VUS	1 lab	35623c6a63
3:12458274 PPARG C>T	3	12458274	12458274	C	T	PPARG	c.801C>T	NM_138711.6	NP_619725.3:p.(Pro267=)	NC_000003.11:g.12458274C>T	(Likely) benign	1 lab	3563fee3e1
11:76892501 MYO7A G>C	11	76892501	76892501	G	C	MYO7A	c.2770G>C	NM_000260.4	NP_000251.3:p.(Glu924Gln)	NC_000011.9:g.76892501G>C	(Likely) benign	1 lab	356424e745
1:110613135 ALX3 C>T	1	110613135	110613135	C	T	ALX3	c.100G>A	NM_006492.3	NP_006483.2:p.(Ala34Thr)	NC_000001.10:g.110613135C>T	(Likely) benign	1 lab	356464aa2b
6:129204403 LAMA2 G>A	6	129204403	129204403	G	A	LAMA2	c.13G>A	NM_000426.4	NP_000417.3:p.(Ala5Thr)	NC_000006.11:g.129204403G>A	(Likely) benign	1 lab	3566ba6c2e
7:151893398 KMT2C A>C	7	151893398	151893398	A	C	KMT2C	c.4274-302T>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151893398A>C	(Likely) benign	1 lab	3566d068a2
8:145740702 RECQL4 C>T	8	145740702	145740702	C	T	RECQL4	c.1390+8G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145740702C>T	(Likely) benign	1 lab	356778f1ce
12:31540715 DENND5B C>T	12	31540715	31540715	C	T	DENND5B	c.3647G>A	NM_144973.4	NP_659410.3:p.(Arg1216His)	NC_000012.11:g.31540715C>T	VUS	1 lab	35677a73e7
13:103510646 ERCC5 C>G	13	103510646	103510646	C	G	ERCC5	c.550C>G	NM_000123.4	NP_000114.3:p.(Gln184Glu)	NC_000013.10:g.103510646C>G	VUS	1 lab	356819ceaa
5:58270661 PDE4D T>C	5	58270661	58270661	T	C	PDE4D	c.2260A>G	NM_001104631.2	NP_001098101.1:p.(Ser754Gly)	NC_000005.9:g.58270661T>C	VUS	1 lab	3568cc444b
2:190044276 COL5A2 C>T	2	190044276	190044276	C	T	COL5A2	c.55G>A	NM_000393.5	NP_000384.2:p.(Gly19Arg)	NC_000002.11:g.190044276C>T	VUS	1 lab	3569965038
16:2158510 PKD1 G>C	16	2158510	2158510	G	C	PKD1	c.6658C>G	NM_001009944.3	NP_001009944.3:p.(Arg2220Gly)	NC_000016.9:g.2158510G>C	VUS	1 lab	356a145e3a
20:61468557 COL9A3 G>A	20	61468557	61468557	G	A	COL9A3	c.1726G>A	NM_001853.4	NP_001844.3:p.(Ala576Thr)	NC_000020.10:g.61468557G>A	VUS	1 lab	356a9e920b
3:44611683 ZKSCAN7 G>T	3	44611683	44611683	G	T	ZKSCAN7	c.1081G>T	NM_001288590.2	NP_001275519.1:p.(Gly361Trp)	NC_000003.11:g.44611683G>T	VUS	1 lab	356b9e2b01
2:74659644 RTKN G>A	2	74659644	74659644	G	A	RTKN	c.261C>T	NM_001015055.2	NP_001015055.1:p.(Gly87=)	NC_000002.11:g.74659644G>A	(Likely) benign	1 lab	356c4647c5
6:90377843 MDN1 C>G	6	90377843	90377843	C	G	MDN1	c.13984G>C	NM_014611.3	NP_055426.1:p.(Glu4662Gln)	NC_000006.11:g.90377843C>G	(Likely) benign	1 lab	356dc6c130
20:51871432 TSHZ2 G>A	20	51871432	51871432	G	A	TSHZ2	c.1435G>A	NM_173485.6	NP_775756.3:p.(Val479Met)	NC_000020.10:g.51871432G>A	VUS	1 lab	356e6a97b0
18:44549329 KATNAL2 A>T	18	44549329	44549329	A	T	KATNAL2	c.51+22443A>T	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44549329A>T	(Likely) benign	1 lab	356edefba5
11:89768527 TRIM49C G>A	11	89768527	89768527	G	A	TRIM49C	c.148G>A	NM_001195234.1	NP_001182163.1:p.(Val50Ile)	NC_000011.9:g.89768527G>A	VUS	1 lab	3570f9b202
5:149512469 PDGFRB G>A	5	149512469	149512469	G	A	PDGFRB	c.971C>T	NM_002609.4	NP_002600.1:p.(Thr324Ile)	NC_000005.9:g.149512469G>A	(Likely) benign	1 lab	3572daf6c0
3:4452628 SUMF1 T>C	3	4452628	4452628	T	C	SUMF1	c.875A>G	NM_182760.4	NP_877437.2:p.(Tyr292Cys)	NC_000003.11:g.4452628T>C	VUS	1 lab	357302e7e3
17:65907644 BPTF T>C	17	65907644	65907644	T	C	BPTF	c.3644T>C	NM_182641.4	NP_872579.2:p.(Ile1215Thr)	NC_000017.10:g.65907644T>C	(Likely) benign	1 lab	357306ffa7
1:7724028 CAMTA1 G>C	1	7724028	7724028	G	C	CAMTA1	c.1421G>C	NM_015215.4	NP_056030.1:p.(Arg474Pro)	NC_000001.10:g.7724028G>C	(Likely) benign	1 lab	3574912337
5:139197111 PSD2 C>T	5	139197111	139197111	C	T	PSD2	c.1062C>T	NM_032289.4	NP_115665.1:p.(Phe354=)	NC_000005.9:g.139197111C>T	VUS	1 lab	35752b4f75
6:105232365 HACE1 G>A	6	105232365	105232365	G	A	HACE1	c.1410-5C>T	NM_020771.4	NP_065822.2:p.?	NC_000006.11:g.105232365G>A	(Likely) benign	1 lab	357535989c
7:98513514 TRRAP C>T	7	98513514	98513514	C	T	TRRAP	c.2365+3C>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98513514C>T	(Likely) benign	1 lab	3575a85b82
21:47851809 PCNT G>T	21	47851809	47851809	G	T	PCNT	c.8431G>T	NM_006031.6	NP_006022.3:p.(Val2811Leu)	NC_000021.8:g.47851809G>T	(Likely) benign	1 lab	35765b3447
15:100672251 ADAMTS17 G>A	15	100672251	100672251	G	A	ADAMTS17	c.1682C>T	NM_139057.4	NP_620688.2:p.(Thr561Met)	NC_000015.9:g.100672251G>A	VUS	1 lab	357666f94c
10:89503298 PAPSS2 T>G	10	89503298	89503298	T	G	PAPSS2	c.1391T>G	NM_001015880.2	NP_001015880.1:p.(Met464Arg)	NC_000010.10:g.89503298T>G	VUS	1 lab	35779dfc70
1:94639789 ARHGAP29 C>G	1	94639789	94639789	C	G	ARHGAP29	c.3422G>C	NM_004815.4	NP_004806.3:p.(Arg1141Thr)	NC_000001.10:g.94639789C>G	(Likely) benign	1 lab	3577adfdf9
3:180334633 CCDC39 A>G	3	180334633	180334633	A	G	CCDC39	c.2387T>C	NM_181426.2	NP_852091.1:p.(Leu796Ser)	NC_000003.11:g.180334633A>G	VUS	1 lab	3577f3401a
15:91491116 UNC45A C>G	15	91491116	91491116	C	G	UNC45A	c.1591C>G	NM_018671.5	NP_061141.2:p.(Arg531Gly)	NC_000015.9:g.91491116C>G	VUS	1 lab	3577f55f9b
3:172163133 GHSR C>T	3	172163133	172163133	C	T	GHSR	c.919G>A	NM_198407.2	NP_940799.1:p.(Val307Met)	NC_000003.11:g.172163133C>T	VUS	1 lab	35783884ff
5:169482379 DOCK2 C>T	5	169482379	169482379	C	T	DOCK2	c.4284C>T	NM_004946.3	NP_004937.1:p.(Asp1428=)	NC_000005.9:g.169482379C>T	(Likely) benign	1 lab	39404e3f45
22:38522424 PLA2G6 G>C	22	38522424	38522424	G	C	PLA2G6	c.1381C>G	NM_003560.4	NP_003551.2:p.(Arg461Gly)	NC_000022.10:g.38522424G>C	VUS	1 lab	3579886515
5:140502083 PCDHB4 A>G	5	140502083	140502083	A	G	PCDHB4	c.503A>G	NM_018938.4	NP_061761.1:p.(Lys168Arg)	NC_000005.9:g.140502083A>G	(Likely) benign	1 lab	357e50fe15
10:90530754 LIPN T>C	10	90530754	90530754	T	C	LIPN	c.819+6T>C	NM_001102469.2	NP_001095939.1:p.?	NC_000010.10:g.90530754T>C	(Likely) benign	1 lab	357e830d01
1:94520781 ABCA4 C>T	1	94520781	94520781	C	T	ABCA4	c.2473G>A	NM_000350.3	NP_000341.2:p.(Gly825Arg)	NC_000001.10:g.94520781C>T	VUS	1 lab	357f106767
8:57878890 BPNT2 C>A	8	57878890	57878890	C	A	BPNT2	c.668G>T	NM_017813.5	NP_060283.3:p.(Gly223Val)	NC_000008.10:g.57878890C>A	VUS	1 lab	357f313f80
3:98304349 CPOX T>C	3	98304349	98304349	T	C	CPOX	c.1108A>G	NM_000097.7	NP_000088.3:p.(Lys370Glu)	NC_000003.11:g.98304349T>C	(Likely) benign	1 lab	357fc83c6f
15:31218035 FAN1 A>G	15	31218035	31218035	A	G	FAN1	c.2381A>G	NM_014967.5	NP_055782.3:p.(Lys794Arg)	NC_000015.9:g.31218035A>G	VUS	1 lab	38c0791672
7:47906070 PKD1L1 G>A	7	47906070	47906070	G	A	PKD1L1	c.4039C>T	NM_138295.5	NP_612152.1:p.(Arg1347Ter)	NC_000007.13:g.47906070G>A	(Likely) pathogenic	1 lab	358045e8fb
5:36985751 NIPBL A>G	5	36985751	36985751	A	G	NIPBL	c.2469A>G	NM_133433.4	NP_597677.2:p.(Lys823=)	NC_000005.9:g.36985751A>G	(Likely) benign	1 lab	35832a91f9
3:25678716 TOP2B C>T	3	25678716	25678716	C	T	TOP2B	c.629G>A	NM_001330700.2	NP_001317629.1:p.(Ser210Asn)	NC_000003.11:g.25678716C>T	(Likely) benign	1 lab	35843452a1
3:178928129 PIK3CA A>T	3	178928129	178928129	A	T	PIK3CA	c.1404+3A>T	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178928129A>T	VUS	1 lab	358463f3ac
7:47915787 PKD1L1 A>C	7	47915787	47915787	A	C	PKD1L1	c.3692T>G	NM_138295.5	NP_612152.1:p.(Ile1231Arg)	NC_000007.13:g.47915787A>C	VUS	1 lab	3585f24224
3:49168267 LAMB2 G>T	3	49168267	49168267	G	T	LAMB2	c.942C>A	NM_002292.4	NP_002283.3:p.(His314Gln)	NC_000003.11:g.49168267G>T	VUS	1 lab	3588a35fe1
X:41060471 USP9X A>G	X	41060471	41060471	A	G	USP9X	c.4762A>G	NM_001039591.3	NP_001034680.2:p.(Ile1588Val)	NC_000023.10:g.41060471A>G	VUS	1 lab	3588e70e54
8:61761687 CHD7 C>G	8	61761687	61761687	C	G	CHD7	c.5378C>G	NM_017780.4	NP_060250.2:p.(Ser1793Cys)	NC_000008.10:g.61761687C>G	VUS	1 lab	3588e8f91e
10:11994211 UPF2 G>A	10	11994211	11994211	G	A	UPF2	c.2888C>T	NM_015542.4	NP_056357.1:p.(Thr963Ile)	NC_000010.10:g.11994211G>A	VUS	1 lab	3589a116e5
12:102813349 IGF1 G>C	12	102813349	102813349	G	C	IGF1	c.340C>G	NM_000618.5	NP_000609.1:p.(Pro114Ala)	NC_000012.11:g.102813349G>C	(Likely) benign	1 lab	35924eb911
15:72023485 THSD4 G>A	15	72023485	72023485	G	A	THSD4	c.1559G>A	NM_024817.3	NP_079093.2:p.(Gly520Asp)	NC_000015.9:g.72023485G>A	VUS	1 lab	3594244866
20:62838961 MYT1 A>G	20	62838961	62838961	A	G	MYT1	c.412A>G	NM_004535.3	NP_004526.1:p.(Lys138Glu)	NC_000020.10:g.62838961A>G	(Likely) benign	1 lab	3594d9c809
2:179547634 TTN A>C	2	179547634	179547634	A	C	TTN	c.32888-4T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179547634A>C	VUS	1 lab	359656d6b3
X:47498400 ELK1 C>T	X	47498400	47498400	C	T	ELK1	c.548G>A	NM_001114123.3	NP_001107595.1:p.(Ser183Asn)	NC_000023.10:g.47498400C>T	(Likely) benign	1 lab	3596dbe3e4
3:42729727 KLHL40 G>A	3	42729727	42729727	G	A	KLHL40	c.1246G>A	NM_152393.4	NP_689606.2:p.(Val416Met)	NC_000003.11:g.42729727G>A	VUS	1 lab	359814aa1d
1:11860384 MTHFR A>G	1	11860384	11860384	A	G	MTHFR	c.476-5T>C	NM_005957.5	NP_005948.3:p.?	NC_000001.10:g.11860384A>G	(Likely) benign	1 lab	35987dda5e
17:27014205 SUPT6H G>A	17	27014205	27014205	G	A	SUPT6H	c.2800G>A	NM_003170.5	NP_003161.2:p.(Asp934Asn)	NC_000017.10:g.27014205G>A	VUS	1 lab	359926aa44
1:2938887 ACTRT2 G>A	1	2938887	2938887	G	A	ACTRT2	c.637G>A	NM_080431.5	NP_536356.3:p.(Val213Met)	NC_000001.10:g.2938887G>A	(Likely) benign	1 lab	3599aa5086
8:15615538 TUSC3 G>A	8	15615538	15615538	G	A	TUSC3	c.*46+174G>A	NM_006765.4	NP_006756.2:p.?	NC_000008.10:g.15615538G>A	VUS	1 lab	359c57917d
1:158943468 PYHIN1 C>T	1	158943468	158943468	C	T	PYHIN1	c.1391C>T	NM_152501.5	NP_689714.2:p.(Ser464Leu)	NC_000001.10:g.158943468C>T	(Likely) benign	1 lab	359e084ba5
6:7584230 DSP G>T	6	7584230	7584230	G	T	DSP	c.6735G>T	NM_004415.4	NP_004406.2:p.(Glu2245Asp)	NC_000006.11:g.7584230G>T	VUS	1 lab	1d4b20e24d
6:31557696 NCR3 C>T	6	31557696	31557696	C	T	NCR3	c.251G>A	NM_147130.3	NP_667341.1:p.(Arg84His)	NC_000006.11:g.31557696C>T	(Likely) benign	1 lab	359f91ac15
10:127843796 ADAM12 C>T	10	127843796	127843796	C	T	ADAM12	c.339G>A	NM_001288973.2	NP_001275902.1:p.(Thr113=)	NC_000010.10:g.127843796C>T	(Likely) benign	1 lab	359fd132af
17:36091682 HNF1B C>T	17	36091682	36091682	C	T	HNF1B	c.949G>A	NM_000458.4	NP_000449.1:p.(Ala317Thr)	NC_000017.10:g.36091682C>T	VUS	1 lab	35a02cd26b
11:31823455 PAX6 A>T	11	31823455	31823455	A	T	PAX6	c.147T>A	NM_001368894.2	NP_001355823.1:p.(His49Gln)	NC_000011.9:g.31823455A>T	VUS	1 lab	35a1680ca1
4:96025646 BMPR1B C>T	4	96025646	96025646	C	T	BMPR1B	c.71C>T	NM_001203.3	NP_001194.1:p.(Thr24Ile)	NC_000004.11:g.96025646C>T	(Likely) benign	1 lab	35a5546eee
X:122532566 GRIA3 T>C	X	122532566	122532566	T	C	GRIA3	c.992T>C	NM_007325.5	NP_015564.5:p.(Val331Ala)	NC_000023.10:g.122532566T>C	VUS	1 lab	35a5d6541f
10:76784724 KAT6B T>C	10	76784724	76784724	T	C	KAT6B	c.3381T>C	NM_012330.4	NP_036462.2:p.(Phe1127=)	NC_000010.10:g.76784724T>C	(Likely) benign	1 lab	35a6428df2
15:90320122 MESP2 GGGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAA>G	15	90320122	90320172	GGGGCAGGGGCAAGGGCAGGGGCAGGGGCAGGGGCAA	G	MESP2	c.549_584del	NM_001039958.2	NP_001035047.1:p.(Gln194_Gly205del)	NC_000015.9:g.90320137_90320172del	(Likely) benign	1 lab	35a6ff8dc3
8:121312972 COL14A1 G>A	8	121312972	121312972	G	A	COL14A1	c.4316G>A	NM_021110.4	NP_066933.1:p.(Arg1439Lys)	NC_000008.10:g.121312972G>A	VUS	1 lab	35a7ce78ef
9:94486144 ROR2 G>C	9	94486144	94486144	G	C	ROR2	c.2632C>G	NM_004560.4	NP_004551.2:p.(Pro878Ala)	NC_000009.11:g.94486144G>C	VUS	1 lab	35aa05d2ea
X:26235962 MAGEB5 G>A	X	26235962	26235962	G	A	MAGEB5	c.544G>A	NM_001271752.1	NP_001258681.1:p.(Val182Met)	NC_000023.10:g.26235962G>A	VUS	1 lab	35aa234812
4:148457021 EDNRA C>T	4	148457021	148457021	C	T	EDNRA	c.748-8C>T	NM_001957.4	NP_001948.1:p.?	NC_000004.11:g.148457021C>T	(Likely) benign	1 lab	35aa5c2803
16:3293407 MEFV T>A	16	3293407	3293407	T	A	MEFV	c.2080A>T	NM_000243.2	NP_000234.1:p.(Met694Leu)	NC_000016.9:g.3293407T>A	(Likely) pathogenic	1 lab	1ddf392b9b
4:103236924 SLC39A8 A>G	4	103236924	103236924	A	G	SLC39A8	c.283T>C	NM_001135146.2	NP_001128618.1:p.(Ser95Pro)	NC_000004.11:g.103236924A>G	VUS	1 lab	35b2d7979e
1:7812557 CAMTA1 G>A	1	7812557	7812557	G	A	CAMTA1	c.4922G>A	NM_015215.4	NP_056030.1:p.(Arg1641Gln)	NC_000001.10:g.7812557G>A	VUS	1 lab	35b529ba9f
22:26422796 MYO18B G>T	22	26422796	26422796	G	T	MYO18B	c.6856G>T	NM_032608.7	NP_115997.5:p.(Ala2286Ser)	NC_000022.10:g.26422796G>T	VUS	1 lab	35b5d58d6e
15:96880840 NR2F2 G>T	15	96880840	96880840	G	T	NR2F2	c.1234G>T	NM_021005.4	NP_066285.1:p.(Ala412Ser)	NC_000015.9:g.96880840G>T	(Likely) benign	1 lab	35b61cfd0a
2:3392429 TRAPPC12 C>G	2	3392429	3392429	C	G	TRAPPC12	c.1035C>G	NM_016030.6	NP_057114.5:p.(Phe345Leu)	NC_000002.11:g.3392429C>G	VUS	1 lab	35ec87d750
X:75003544 MAGEE2 C>T	X	75003544	75003544	C	T	MAGEE2	c.1343G>A	NM_138703.5	NP_619648.1:p.(Arg448His)	NC_000023.10:g.75003544C>T	VUS	1 lab	35b9946469
X:118809520 SEPTIN6 C>T	X	118809520	118809520	C	T	SEPTIN6	c.142G>A	NM_145799.4	NP_665798.1:p.(Val48Met)	NC_000023.10:g.118809520C>T	VUS	1 lab	35ba202c93
16:30721106 SRCAP AG>A	16	30721106	30721107	AG	A	SRCAP	c.856+51del	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30721107del	VUS	1 lab	35baeeaf5b
17:1680559 SERPINF1 G>A	17	1680559	1680559	G	A	SERPINF1	c.1076G>A	NM_002615.7	NP_002606.3:p.(Arg359Gln)	NC_000017.10:g.1680559G>A	(Likely) benign	1 lab	35bb50ac73
20:33585319 MYH7B C>T	20	33585319	33585319	C	T	MYH7B	c.3623C>T	NM_020884.7	NP_065935.4:p.(Ala1208Val)	NC_000020.10:g.33585319C>T	VUS	1 lab	35bc4a6fe6
4:6279225 WFS1 C>T	4	6279225	6279225	C	T	WFS1	c.43C>T	NM_006005.3	NP_005996.2:p.(Pro15Ser)	NC_000004.11:g.6279225C>T	(Likely) benign	1 lab	35bcf4d67a
X:100117418 NOX1 T>TA	X	100117418	100117423	T	TA	NOX1	c.633dup	NM_007052.5	NP_008983.2:p.(Ile212TyrfsTer26)	NC_000023.10:g.100117423dup	VUS	1 lab	35bd1d0688
5:36976480 NIPBL T>G	5	36976480	36976480	T	G	NIPBL	c.1471T>G	NM_133433.4	NP_597677.2:p.(Phe491Val)	NC_000005.9:g.36976480T>G	VUS	1 lab	35be0bc4dd
20:3211171 SLC4A11 G>A	20	3211171	3211171	G	A	SLC4A11	c.1405C>T	NM_001174089.2	NP_001167560.1:p.(Leu469Phe)	NC_000020.10:g.3211171G>A	VUS	1 lab	35bec1c42c
17:42978397 DNAAF19 G>C	17	42978397	42978397	G	C	DNAAF19	c.31G>C	NM_213607.3	NP_998772.1:p.(Ala11Pro)	NC_000017.10:g.42978397G>C	VUS	1 lab	35c03d4575
X:107288370 VSIG1 G>A	X	107288370	107288370	G	A	VSIG1	c.10G>A	NM_182607.5	NP_872413.1:p.(Ala4Thr)	NC_000023.10:g.107288370G>A	(Likely) benign	1 lab	35c10d9d01
X:102564658 BEX2 CCTCT>C	X	102564658	102564665	CCTCT	C	BEX2	c.243_246del	NM_032621.4	NP_116010.1:p.(Glu82ArgfsTer10)	NC_000023.10:g.102564662_102564665del	VUS	1 lab	35c155238c
1:38323234 MTF1 T>C	1	38323234	38323234	T	C	MTF1	c.97A>G	NM_005955.3	NP_005946.2:p.(Asn33Asp)	NC_000001.10:g.38323234T>C	(Likely) benign	1 lab	35c2734c84
11:64417946 NRXN2 T>C	11	64417946	64417946	T	C	NRXN2	c.3083A>G	NM_015080.4	NP_055895.1:p.(Asn1028Ser)	NC_000011.9:g.64417946T>C	(Likely) benign	1 lab	35c31e78b3
14:70480165 SMOC1 A>G	14	70480165	70480165	A	G	SMOC1	c.1003A>G	NM_001034852.3	NP_001030024.1:p.(Met335Val)	NC_000014.8:g.70480165A>G	VUS	1 lab	35c3a55dab
10:43622158 RET A>G	10	43622158	43622158	A	G	RET	c.3175A>G	NM_020975.6	NP_066124.1:p.(Asn1059Asp)	NC_000010.10:g.43622158A>G	VUS	1 lab	35c677e8bf
2:109367883 RANBP2 A>G	2	109367883	109367883	A	G	RANBP2	c.1437A>G	NM_006267.4	NP_006258.3:p.(Ile479Met)	NC_000002.11:g.109367883A>G	(Likely) benign	1 lab	1de3989fb1
1:196295991 KCNT2 G>A	1	196295991	196295991	G	A	KCNT2	c.2132C>T	NM_198503.5	NP_940905.2:p.(Ala711Val)	NC_000001.10:g.196295991G>A	VUS	1 lab	35c7b91344
9:140622895 EHMT1 G>A	9	140622895	140622895	G	A	EHMT1	c.737G>A	NM_024757.5	NP_079033.4:p.(Arg246Gln)	NC_000009.11:g.140622895G>A	(Likely) benign	1 lab	35c86a306c
1:43903367 SZT2 C>G	1	43903367	43903367	C	G	SZT2	c.6392C>G	NM_001365999.1	NP_001352928.1:p.(Ala2131Gly)	NC_000001.10:g.43903367C>G	(Likely) benign	1 lab	35ca3f68bc
22:35816001 MCM5 G>A	22	35816001	35816001	G	A	MCM5	c.1828G>A	NM_006739.4	NP_006730.2:p.(Val610Met)	NC_000022.10:g.35816001G>A	VUS	1 lab	35cbaa88f2
12:103352203 ASCL1 C>CAGCAGCAGG	12	103352203	103352209	C	CAGCAGCAGG	ASCL1	c.186_187insCAGGAGCAG	NM_004316.4	NP_004307.2:p.(Gln62_Ala63insGlnGluGln)	NC_000012.11:g.103352208_103352209insCAGGAGCAG	VUS	1 lab	35ccd29497
3:38316984 SLC22A13 A>T	3	38316984	38316984	A	T	SLC22A13	c.927+3A>T	NM_004256.4	NP_004247.2:p.?	NC_000003.11:g.38316984A>T	VUS	1 lab	35cceac423
9:139399876 NOTCH1 G>A	9	139399876	139399876	G	A	NOTCH1	c.4472C>T	NM_017617.5	NP_060087.3:p.(Thr1491Met)	NC_000009.11:g.139399876G>A	VUS	1 lab	35ce220657
20:49508479 ADNP C>G	20	49508479	49508479	C	G	ADNP	c.2772G>C	NM_001282531.3	NP_001269460.1:p.(Glu924Asp)	NC_000020.10:g.49508479C>G	(Likely) benign	1 lab	35d30d522a
2:74692310 MOGS G>T	2	74692310	74692310	G	T	MOGS	c.65C>A	NM_006302.3	NP_006293.2:p.(Ala22Glu)	NC_000002.11:g.74692310G>T	(Likely) benign	1 lab	35d34c160e
17:57290502 SMG8 C>T	17	57290502	57290502	C	T	SMG8	c.2318C>T	NM_018149.7	NP_060619.4:p.(Pro773Leu)	NC_000017.10:g.57290502C>T	(Likely) benign	1 lab	35d3517120
12:120611473 GCN1 C>G	12	120611473	120611473	C	G	GCN1	c.1350G>C	NM_006836.2	NP_006827.1:p.(Met450Ile)	NC_000012.11:g.120611473C>G	(Likely) benign	1 lab	35d50b5b6f
9:125852674 RABGAP1 A>G	9	125852674	125852674	A	G	RABGAP1	c.2628+10A>G	NM_012197.4	NP_036329.3:p.?	NC_000009.11:g.125852674A>G	(Likely) benign	1 lab	35d554dc07
2:202574737 ALS2 G>C	2	202574737	202574737	G	C	ALS2	c.4147C>G	NM_020919.4	NP_065970.2:p.(Leu1383Val)	NC_000002.11:g.202574737G>C	VUS	1 lab	35d57806a5
9:135946854 CEL G>GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	9	135946854	135946914	G	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	CEL	c.1993_2025dup	NM_001807.6	NP_001798.3:p.(Ser665_Asp675dup)	NC_000009.11:g.135946882_135946914dup	(Likely) benign	1 lab	35d580eda2
12:49445410 KMT2D C>T	12	49445410	49445410	C	T	KMT2D	c.2056G>A	NM_003482.4	NP_003473.3:p.(Ala686Thr)	NC_000012.11:g.49445410C>T	VUS	1 lab	35d8f83dd9
15:99251098 IGF1R G>A	15	99251098	99251098	G	A	IGF1R	c.402G>A	NM_000875.5	NP_000866.1:p.(Arg134=)	NC_000015.9:g.99251098G>A	(Likely) benign	1 lab	35da1c6084
21:47831667 PCNT G>A	21	47831667	47831667	G	A	PCNT	c.5680G>A	NM_006031.6	NP_006022.3:p.(Val1894Ile)	NC_000021.8:g.47831667G>A	(Likely) benign	1 lab	35df6a0439
7:99704437 AP4M1 G>A	7	99704437	99704437	G	A	AP4M1	c.1294G>A	NM_004722.4	NP_004713.2:p.(Gly432Ser)	NC_000007.13:g.99704437G>A	VUS	1 lab	35dfab051c
9:139342047 SEC16A G>A	9	139342047	139342047	G	A	SEC16A	c.6533C>T	NM_014866.2	NP_055681.1:p.(Pro2178Leu)	NC_000009.11:g.139342047G>A	(Likely) benign	1 lab	35e016ac2a
1:228346189 GJC2 C>T	1	228346189	228346189	C	T	GJC2	c.730C>T	NM_020435.4	NP_065168.2:p.(Pro244Ser)	NC_000001.10:g.228346189C>T	(Likely) benign	1 lab	35e16237b7
22:46859751 CELSR1 C>T	22	46859751	46859751	C	T	CELSR1	c.4036G>A	NM_001378328.1	NP_001365257.1:p.(Gly1346Ser)	NC_000022.10:g.46859751C>T	(Likely) benign	1 lab	35e2790b9e
11:2181205 INS C>T	11	2181205	2181205	C	T	INS	c.210G>A	NM_000207.3	NP_000198.1:p.(Gly70=)	NC_000011.9:g.2181205C>T	(Likely) benign	1 lab	35e3df8e52
10:95653970 SLC35G1 T>C	10	95653970	95653970	T	C	SLC35G1	c.178+2T>C	NM_001134658.3	NP_001128130.1:p.?	NC_000010.10:g.95653970T>C	VUS	1 lab	35e4c400d1
3:195510785 MUC4 C>T	3	195510785	195510785	C	T	MUC4	c.7666G>A	NM_018406.7	NP_060876.5:p.(Gly2556Ser)	NC_000003.11:g.195510785C>T	VUS	1 lab	35e5081697
16:24800678 TNRC6A T>A	16	24800678	24800678	T	A	TNRC6A	c.715T>A	NM_014494.4	NP_055309.2:p.(Trp239Arg)	NC_000016.9:g.24800678T>A	VUS	1 lab	35e5326f99
1:16235887 SPEN C>A	1	16235887	16235887	C	A	SPEN	c.953C>A	NM_015001.3	NP_055816.2:p.(Pro318His)	NC_000001.10:g.16235887C>A	VUS	1 lab	35e54e0c0e
9:94486762 ROR2 C>T	9	94486762	94486762	C	T	ROR2	c.2014G>A	NM_004560.4	NP_004551.2:p.(Asp672Asn)	NC_000009.11:g.94486762C>T	VUS	1 lab	35e5854a0f
1:43870049 SZT2 A>G	1	43870049	43870049	A	G	SZT2	c.328-2A>G	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43870049A>G	VUS	1 lab	35e984551c
X:19533252 MAP3K15 C>T	X	19533252	19533252	C	T	MAP3K15	c.128G>A	NM_001001671.4	NP_001001671.3:p.(Gly43Asp)	NC_000023.10:g.19533252C>T	(Likely) benign	1 lab	35eb28a7cd
8:28574829 EXTL3 G>A	8	28574829	28574829	G	A	EXTL3	c.1253G>A	NM_001440.4	NP_001431.1:p.(Arg418Gln)	NC_000008.10:g.28574829G>A	VUS	1 lab	35ed72b9fa
5:1798943 MRPL36 C>T	5	1798943	1798943	C	T	MRPL36	c.107G>A	NM_032479.4	NP_115868.1:p.(Gly36Asp)	NC_000005.9:g.1798943C>T	(Likely) benign	1 lab	35ef77d83a
19:41515255 CYP2B6 C>A	19	41515255	41515255	C	A	CYP2B6	c.777C>A	NM_000767.5	NP_000758.1:p.(Ser259Arg)	NC_000019.9:g.41515255C>A	VUS	1 lab	35ef9b7b54
2:162865124 DPP4 G>A	2	162865124	162865124	G	A	DPP4	c.1935C>T	NM_001935.4	NP_001926.2:p.(Gly645=)	NC_000002.11:g.162865124G>A	(Likely) benign	1 lab	35f0dbcf9f
X:138699734 MCF2 C>T	X	138699734	138699734	C	T	MCF2	c.1117G>A	NM_001171876.2	NP_001165347.1:p.(Glu373Lys)	NC_000023.10:g.138699734C>T	VUS	1 lab	35f2978a55
2:32476689 NLRC4 T>C	2	32476689	32476689	T	C	NLRC4	c.263-19A>G	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32476689T>C	(Likely) benign	1 lab	1de5b07708
18:21114439 NPC1 C>G	18	21114439	21114439	C	G	NPC1	c.3562G>C	NM_000271.5	NP_000262.2:p.(Glu1188Gln)	NC_000018.9:g.21114439C>G	VUS	1 lab	1d4b33d805
13:32907095 BRCA2 G>A	13	32907095	32907095	G	A	BRCA2	c.1480G>A	NM_000059.4	NP_000050.3:p.(Val494Met)	NC_000013.10:g.32907095G>A	(Likely) benign	1 lab	35f5311f44
3:156979023 VEPH1 G>T	3	156979023	156979023	G	T	VEPH1	c.2402C>A	NM_001167912.2	NP_001161384.1:p.(Ala801Asp)	NC_000003.11:g.156979023G>T	VUS	1 lab	35f85a6efd
3:14176699 TMEM43 C>T	3	14176699	14176699	C	T	TMEM43	c.747C>T	NM_024334.2	NP_077310.1:p.(Ser249=)	NC_000003.11:g.14176699C>T	(Likely) benign	1 lab	1de5e77aa0
22:29444396 ZNRF3 G>A	22	29444396	29444396	G	A	ZNRF3	c.932G>A	NM_001206998.2	NP_001193927.1:p.(Cys311Tyr)	NC_000022.10:g.29444396G>A	(Likely) pathogenic	1 lab	1d515dd1d1
13:35734178 NBEA C>T	13	35734178	35734178	C	T	NBEA	c.3861+9C>T	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.35734178C>T	(Likely) benign	1 lab	35fe2d4e5b
8:18871090 PSD3 C>CA	8	18871090	18871091	C	CA	PSD3	c.3_4insT	NM_015310.4	NP_056125.3:p.(Met1?)	NC_000008.10:g.18871090_18871091insA	VUS	1 lab	3601409ee9
6:131923511 MED23 T>C	6	131923511	131923511	T	C	MED23	c.1942A>G	NM_004830.4	NP_004821.2:p.(Thr648Ala)	NC_000006.11:g.131923511T>C	(Likely) benign	1 lab	36016c936a
16:9023398 USP7 C>A	16	9023398	9023398	C	A	USP7	c.184+752G>T	NM_003470.3	NP_003461.2:p.?	NC_000016.9:g.9023398C>A	(Likely) benign	1 lab	3601702460
2:220498593 SLC4A3 C>T	2	220498593	220498593	C	T	SLC4A3	c.1462-9C>T	NM_005070.4	NP_005061.3:p.?	NC_000002.11:g.220498593C>T	(Likely) benign	1 lab	3601e54d86
2:165994511 SCN3A C>A	2	165994511	165994511	C	A	SCN3A	c.2269G>T	NM_006922.4	NP_008853.3:p.(Val757Phe)	NC_000002.11:g.165994511C>A	VUS	1 lab	3602ad2172
2:160755536 LY75 C>T	2	160755536	160755536	C	T	LY75	c.129G>A	NM_002349.4	NP_002340.2:p.(Thr43=)	NC_000002.11:g.160755536C>T	VUS	1 lab	3603bc8205
16:2112017 TSC2 C>A	16	2112017	2112017	C	A	TSC2	c.1257+8C>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112017C>A	(Likely) benign	1 lab	1deef06bda
12:116434898 MED13L C>T	12	116434898	116434898	C	T	MED13L	c.2707G>A	NM_015335.5	NP_056150.1:p.(Val903Ile)	NC_000012.11:g.116434898C>T	(Likely) benign	1 lab	3606c27d70
17:73746794 ITGB4 G>A	17	73746794	73746794	G	A	ITGB4	c.3508G>A	NM_001005731.3	NP_001005731.1:p.(Glu1170Lys)	NC_000017.10:g.73746794G>A	VUS	1 lab	1d5bf5eeff
16:30970521 SETD1A G>A	16	30970521	30970521	G	A	SETD1A	c.246+14G>A	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970521G>A	(Likely) benign	1 lab	1df12fd3f4
14:23869515 MYH6 A>G	14	23869515	23869515	A	G	MYH6	c.1531T>C	NM_002471.4	NP_002462.2:p.(Phe511Leu)	NC_000014.8:g.23869515A>G	VUS	1 lab	3608a77766
6:51890503 PKHD1 G>A	6	51890503	51890503	G	A	PKHD1	c.4105C>T	NM_138694.4	NP_619639.3:p.(Arg1369Cys)	NC_000006.11:g.51890503G>A	VUS	1 lab	360a94ee25
7:146536869 CNTNAP2 G>A	7	146536869	146536869	G	A	CNTNAP2	c.275G>A	NM_014141.6	NP_054860.1:p.(Arg92Gln)	NC_000007.13:g.146536869G>A	VUS	1 lab	360aba6ccc
18:50985788 DCC G>C	18	50985788	50985788	G	C	DCC	c.3579G>C	NM_005215.4	NP_005206.2:p.(Gln1193His)	NC_000018.9:g.50985788G>C	VUS	1 lab	360af17d93
2:216253015 FN1 G>C	2	216253015	216253015	G	C	FN1	c.4262C>G	NM_212482.4	NP_997647.2:p.(Pro1421Arg)	NC_000002.11:g.216253015G>C	VUS	1 lab	360b47d004
14:20845770 TEP1 T>C	14	20845770	20845770	T	C	TEP1	c.5864A>G	NM_007110.5	NP_009041.2:p.(Lys1955Arg)	NC_000014.8:g.20845770T>C	(Likely) benign	1 lab	360b55d23c
9:138657479 KCNT1 G>A	9	138657479	138657479	G	A	KCNT1	c.1210G>A	NM_020822.3	NP_065873.2:p.(Val404Met)	NC_000009.11:g.138657479G>A	(Likely) benign	1 lab	360c147ca0
9:98775424 ERCC6L2 G>T	9	98775424	98775424	G	T	ERCC6L2	c.4592G>T	NM_020207.7	NP_064592.3:p.(Trp1531Leu)	NC_000009.11:g.98775424G>T	VUS	1 lab	360c7d58ae
6:121602832 TBC1D32 T>A	6	121602832	121602832	T	A	TBC1D32	c.1466A>T	NM_152730.6	NP_689943.4:p.(Glu489Val)	NC_000006.11:g.121602832T>A	VUS	1 lab	360cfc2465
17:73729701 ITGB4 G>A	17	73729701	73729701	G	A	ITGB4	c.1585G>A	NM_000213.5	NP_000204.3:p.(Gly529Ser)	NC_000017.10:g.73729701G>A	VUS	1 lab	360d1725a9
5:170814991 NPM1 G>A	5	170814991	170814991	G	A	NPM1	c.39G>A	NM_002520.7	NP_002511.1:p.(Arg13=)	NC_000005.9:g.170814991G>A	(Likely) benign	1 lab	360d5f6521
1:196227521 KCNT2 G>A	1	196227521	196227521	G	A	KCNT2	c.3014C>T	NM_198503.5	NP_940905.2:p.(Ser1005Leu)	NC_000001.10:g.196227521G>A	(Likely) benign	1 lab	36101d1c14
12:72028544 ZFC3H1 G>A	12	72028544	72028544	G	A	ZFC3H1	c.2300C>T	NM_144982.5	NP_659419.3:p.(Pro767Leu)	NC_000012.11:g.72028544G>A	(Likely) benign	1 lab	36107c4c18
1:6021845 NPHP4 C>T	1	6021845	6021845	C	T	NPHP4	c.673+9G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6021845C>T	(Likely) benign	1 lab	3610cbbbe0
13:100635025 ZIC2 A>C	13	100635025	100635025	A	C	ZIC2	c.707A>C	NM_007129.5	NP_009060.2:p.(His236Pro)	NC_000013.10:g.100635025A>C	VUS	1 lab	3611af9a39
5:74722520 CERT1 G>A	5	74722520	74722520	G	A	CERT1	c.349-217C>T	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74722520G>A	(Likely) benign	1 lab	3613467001
12:51097944 DIP2B G>A	12	51097944	51097944	G	A	DIP2B	c.2347G>A	NM_173602.3	NP_775873.2:p.(Gly783Ser)	NC_000012.11:g.51097944G>A	(Likely) benign	1 lab	3613e13a02
2:109455641 CCDC138 C>T	2	109455641	109455641	C	T	CCDC138	c.1207C>T	NM_144978.3	NP_659415.1:p.(Leu403Phe)	NC_000002.11:g.109455641C>T	VUS	1 lab	36149e998a
X:153770481 G6PD G>A	X	153770481	153770481	G	A	G6PD	c.120+3770C>T	NM_001360016.2	NP_001346945.1:p.?	NC_000023.10:g.153770481G>A	VUS	1 lab	36166af307
5:179227937 MGAT4B G>C	5	179227937	179227937	G	C	MGAT4B	c.575C>G	NM_014275.5	NP_055090.1:p.(Thr192Ser)	NC_000005.9:g.179227937G>C	VUS	1 lab	3616ffdbc0
6:118887301 CEP85L A>C	6	118887301	118887301	A	C	CEP85L	c.411T>G	NM_001042475.3	NP_001035940.1:p.(Ser137Arg)	NC_000006.11:g.118887301A>C	(Likely) benign	1 lab	361bdd2c47
17:78261961 RNF213 G>C	17	78261961	78261961	G	C	RNF213	c.609G>C	NM_001256071.3	NP_001243000.2:p.(Glu203Asp)	NC_000017.10:g.78261961G>C	(Likely) benign	1 lab	361d503753
3:108751580 MORC1 G>A	3	108751580	108751580	G	A	MORC1	c.1552C>T	NM_014429.4	NP_055244.3:p.(Arg518Cys)	NC_000003.11:g.108751580G>A	VUS	1 lab	361e29a833
18:50432467 DCC A>G	18	50432467	50432467	A	G	DCC	c.466A>G	NM_005215.4	NP_005206.2:p.(Thr156Ala)	NC_000018.9:g.50432467A>G	VUS	1 lab	36234a4ca4
5:147481430 SPINK5 A>G	5	147481430	147481430	A	G	SPINK5	c.1389A>G	NM_001127698.2	NP_001121170.1:p.(Gly463=)	NC_000005.9:g.147481430A>G	(Likely) benign	1 lab	1d61b68806
11:124791175 HEPACAM G>GGCTGGGGAGCGC	11	124791175	124791200	G	GGCTGGGGAGCGC	HEPACAM	c.1098_1109dup	NM_152722.5	NP_689935.2:p.(Arg367_Ala370dup)	NC_000011.9:g.124791189_124791200dup	VUS	1 lab	3623ac4338
3:52437498 BAP1 G>T	3	52437498	52437498	G	T	BAP1	c.1663C>A	NM_004656.4	NP_004647.1:p.(Pro555Thr)	NC_000003.11:g.52437498G>T	VUS	1 lab	3625650ebb
16:21712268 OTOA C>G	16	21712268	21712268	C	G	OTOA	c.900C>G	NM_144672.4	NP_653273.3:p.(Ile300Met)	NC_000016.9:g.21712268C>G	VUS	1 lab	362608daed
19:50333977 MED25 G>A	19	50333977	50333977	G	A	MED25	c.934G>A	NM_030973.4	NP_112235.2:p.(Ala312Thr)	NC_000019.9:g.50333977G>A	VUS	1 lab	3626aae4ce
12:42499690 GXYLT1 T>C	12	42499690	42499690	T	C	GXYLT1	c.794A>G	NM_173601.2	NP_775872.1:p.(Tyr265Cys)	NC_000012.11:g.42499690T>C	(Likely) benign	1 lab	3626b7d6ac
15:73624512 HCN4 T>A	15	73624512	73624512	T	A	HCN4	c.1331A>T	NM_005477.3	NP_005468.1:p.(Asp444Val)	NC_000015.9:g.73624512T>A	VUS	1 lab	362715ce73
2:206997706 NDUFS1 C>T	2	206997706	206997706	C	T	NDUFS1	c.1516G>A	NM_005006.7	NP_004997.4:p.(Val506Ile)	NC_000002.11:g.206997706C>T	VUS	1 lab	36276a497f
1:21042050 KIF17 G>C	1	21042050	21042050	G	C	KIF17	c.314C>G	NM_001122819.3	NP_001116291.1:p.(Pro105Arg)	NC_000001.10:g.21042050G>C	VUS	1 lab	3628725db6
4:126370851 FAT4 G>T	4	126370851	126370851	G	T	FAT4	c.8686G>T	NM_001291303.3	NP_001278232.1:p.(Val2896Leu)	NC_000004.11:g.126370851G>T	VUS	1 lab	362998664d
18:7044842 LAMA1 C>T	18	7044842	7044842	C	T	LAMA1	c.859-4G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7044842C>T	(Likely) benign	1 lab	362b2ecd60
X:133919987 PABIR2 T>C	X	133919987	133919987	T	C	PABIR2	c.498-7A>G	NM_001387468.1	NP_001374397.1:p.?	NC_000023.10:g.133919987T>C	(Likely) benign	1 lab	362c389858
6:117243199 RFX6 G>T	6	117243199	117243199	G	T	RFX6	c.1328-6G>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243199G>T	(Likely) benign	1 lab	362c3bb2c3
1:27875713 AHDC1 C>T	1	27875713	27875713	C	T	AHDC1	c.2914G>A	NM_001371928.1	NP_001358857.1:p.(Gly972Ser)	NC_000001.10:g.27875713C>T	(Likely) benign	1 lab	362c7459dc
2:128341896 MYO7B C>T	2	128341896	128341896	C	T	MYO7B	c.1543C>T	NM_001393586.1	NP_001380515.1:p.(Arg515Cys)	NC_000002.11:g.128341896C>T	VUS	1 lab	362f227c3b
22:40814736 MRTFA G>A	22	40814736	40814736	G	A	MRTFA	c.2006C>T	NM_020831.6	NP_065882.2:p.(Ala669Val)	NC_000022.10:g.40814736G>A	VUS	1 lab	1d6405386d
15:69728530 KIF23 A>C	15	69728530	69728530	A	C	KIF23	c.1368A>C	NM_001367805.3	NP_001354734.1:p.(Val456=)	NC_000015.9:g.69728530A>C	(Likely) benign	1 lab	3630599211
21:40604433 BRWD1 G>A	21	40604433	40604433	G	A	BRWD1	c.2767-9C>T	NM_033656.4	NP_387505.1:p.?	NC_000021.8:g.40604433G>A	(Likely) benign	1 lab	363127f3e0
22:19467510 CDC45 C>G	22	19467510	19467510	C	G	CDC45	c.19C>G	NM_003504.5	NP_003495.1:p.(Arg7Gly)	NC_000022.10:g.19467510C>G	(Likely) benign	1 lab	36312a3049
19:39994867 DLL3 G>T	19	39994867	39994867	G	T	DLL3	c.809G>T	NM_203486.3	NP_982353.1:p.(Cys270Phe)	NC_000019.9:g.39994867G>T	VUS	1 lab	3632bbdc59
X:34149764 FAM47A A>G	X	34149764	34149764	A	G	FAM47A	c.632T>C	NM_203408.4	NP_981953.2:p.(Leu211Pro)	NC_000023.10:g.34149764A>G	(Likely) benign	1 lab	3633115ddb
2:71778852 DYSF T>A	2	71778852	71778852	T	A	DYSF	c.1806+2T>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71778852T>A	(Likely) pathogenic	1 lab	3636221795
17:48701307 CACNA1G C>G	17	48701307	48701307	C	G	CACNA1G	c.6100C>G	NM_018896.5	NP_061496.2:p.(Leu2034Val)	NC_000017.10:g.48701307C>G	(Likely) benign	1 lab	3637e714be
5:101597645 SLCO4C1 G>A	5	101597645	101597645	G	A	SLCO4C1	c.992C>T	NM_180991.5	NP_851322.3:p.(Pro331Leu)	NC_000005.9:g.101597645G>A	VUS	1 lab	363805c604
2:60773199 BCL11A G>T	2	60773199	60773199	G	T	BCL11A	c.292C>A	NM_022893.4	NP_075044.2:p.(Pro98Thr)	NC_000002.11:g.60773199G>T	VUS	1 lab	363817a35e
1:152283659 FLG AC>A	1	152283659	152283662	AC	A	FLG	c.3702del	NM_002016.2	NP_002007.1:p.(Ser1235HisfsTer211)	NC_000001.10:g.152283662del	(Likely) pathogenic	1 lab	363887a572
9:137300003 RXRA A>G	9	137300003	137300003	A	G	RXRA	c.288A>G	NM_002957.6	NP_002948.1:p.(Ser96=)	NC_000009.11:g.137300003A>G	(Likely) benign	1 lab	363b44e2ee
7:94057754 COL1A2 G>A	7	94057754	94057754	G	A	COL1A2	c.3676G>A	NM_000089.4	NP_000080.2:p.(Val1226Ile)	NC_000007.13:g.94057754G>A	VUS	1 lab	363b755f56
22:41918948 ACO2 C>T	22	41918948	41918948	C	T	ACO2	c.1253C>T	NM_001098.3	NP_001089.1:p.(Pro418Leu)	NC_000022.10:g.41918948C>T	(Likely) pathogenic	1 lab	363d663643
9:34257233 KIF24 C>T	9	34257233	34257233	C	T	KIF24	c.2372G>A	NM_194313.4	NP_919289.2:p.(Arg791His)	NC_000009.11:g.34257233C>T	(Likely) benign	1 lab	363da03b66
11:45986892 PHF21A G>A	11	45986892	45986892	G	A	PHF21A	c.970C>T	NM_001352027.3	NP_001338956.1:p.(Leu324Phe)	NC_000011.9:g.45986892G>A	(Likely) benign	1 lab	363e6a3fba
9:101243233 GABBR2 G>C	9	101243233	101243233	G	C	GABBR2	c.779C>G	NM_005458.8	NP_005449.5:p.(Ala260Gly)	NC_000009.11:g.101243233G>C	VUS	1 lab	363eca3370
22:40161321 ENTHD1 G>A	22	40161321	40161321	G	A	ENTHD1	c.1126C>T	NM_152512.4	NP_689725.2:p.(Arg376Ter)	NC_000022.10:g.40161321G>A	VUS	1 lab	363fa6b997
15:75586145 GOLGA6D C>T	15	75586145	75586145	C	T	GOLGA6D	c.1669C>T	NM_001145224.3	NP_001138696.1:p.(Gln557Ter)	NC_000015.9:g.75586145C>T	VUS	1 lab	3640604290
19:22272036 ZNF257 C>T	19	22272036	22272036	C	T	ZNF257	c.1484C>T	NM_033468.4	NP_258429.2:p.(Ala495Val)	NC_000019.9:g.22272036C>T	VUS	1 lab	3640bd2bae
15:42877759 STARD9 A>G	15	42877759	42877759	A	G	STARD9	c.158A>G	NM_020759.3	NP_065810.2:p.(Lys53Arg)	NC_000015.9:g.42877759A>G	(Likely) benign	1 lab	3642c3f65c
4:79420616 FRAS1 A>G	4	79420616	79420616	A	G	FRAS1	c.9116-259A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420616A>G	(Likely) benign	1 lab	1df3e7f519
8:106814403 ZFPM2 G>A	8	106814403	106814403	G	A	ZFPM2	c.2093G>A	NM_012082.4	NP_036214.2:p.(Arg698Gln)	NC_000008.10:g.106814403G>A	VUS	1 lab	364429fb5d
2:217347521 SMARCAL1 G>T	2	217347521	217347521	G	T	SMARCAL1	c.2686G>T	NM_014140.4	NP_054859.2:p.(Asp896Tyr)	NC_000002.11:g.217347521G>T	VUS	1 lab	3647614adf
19:42375866 RPS19 A>C	19	42375866	42375866	A	C	RPS19	c.*421A>C	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42375866A>C	(Likely) benign	1 lab	3647ed969e
1:160650915 CD48 A>G	1	160650915	160650915	A	G	CD48	c.652+77T>C	NM_001778.4	NP_001769.2:p.?	NC_000001.10:g.160650915A>G	VUS	1 lab	364966e86d
17:63554110 AXIN2 A>G	17	63554110	63554110	A	G	AXIN2	c.629T>C	NM_004655.4	NP_004646.3:p.(Met210Thr)	NC_000017.10:g.63554110A>G	VUS	1 lab	3649707c6a
2:152484062 NEB C>T	2	152484062	152484062	C	T	NEB	c.10118G>A	NM_001164508.2	NP_001157980.2:p.(Arg3373Gln)	NC_000002.11:g.152484062C>T	(Likely) benign	1 lab	3649e30798
7:21640784 DNAH11 T>C	7	21640784	21640784	T	C	DNAH11	c.3412T>C	NM_001277115.2	NP_001264044.1:p.(Phe1138Leu)	NC_000007.13:g.21640784T>C	(Likely) benign	1 lab	364a6bb680
1:12638815 DHRS3 G>A	1	12638815	12638815	G	A	DHRS3	c.629C>T	NM_004753.7	NP_004744.2:p.(Pro210Leu)	NC_000001.10:g.12638815G>A	VUS	1 lab	364abd2900
19:13414722 CACNA1A C>T	19	13414722	13414722	C	T	CACNA1A	c.1987-24G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13414722C>T	VUS	1 lab	364b966aef
3:142241689 ATR T>A	3	142241689	142241689	T	A	ATR	c.4153-6A>T	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142241689T>A	(Likely) benign	1 lab	364c5bf6d6
8:100874046 VPS13B G>A	8	100874046	100874046	G	A	VPS13B	c.11087G>A	NM_152564.5	NP_689777.3:p.(Arg3696Gln)	NC_000008.10:g.100874046G>A	VUS	1 lab	364c997a6f
8:86392911 CA2 C>T	8	86392911	86392911	C	T	CA2	c.676C>T	NM_000067.3	NP_000058.1:p.(Arg226Cys)	NC_000008.10:g.86392911C>T	VUS	1 lab	364d033d56
15:99500663 IGF1R A>C	15	99500663	99500663	A	C	IGF1R	c.4096A>C	NM_000875.5	NP_000866.1:p.(Thr1366Pro)	NC_000015.9:g.99500663A>C	(Likely) benign	1 lab	364dcbcbfc
12:41418986 CNTN1 C>G	12	41418986	41418986	C	G	CNTN1	c.2558C>G	NM_001843.4	NP_001834.2:p.(Ala853Gly)	NC_000012.11:g.41418986C>G	VUS	1 lab	364de241c6
7:157160107 DNAJB6 A>G	7	157160107	157160107	A	G	DNAJB6	c.276A>G	NM_058246.4	NP_490647.1:p.(Thr92=)	NC_000007.13:g.157160107A>G	(Likely) benign	1 lab	364f393ac9
8:22049605 BMP1 T>C	8	22049605	22049605	T	C	BMP1	c.1121T>C	NM_006129.5	NP_006120.1:p.(Leu374Pro)	NC_000008.10:g.22049605T>C	VUS	1 lab	364fc8cd02
17:16029445 NCOR1 CTTT>C	17	16029445	16029453	CTTT	C	NCOR1	c.1582_1584del	NM_006311.4	NP_006302.2:p.(Lys528del)	NC_000017.10:g.16029451_16029453del	(Likely) benign	1 lab	36518c9b9e
X:13635947 EGFL6 A>G	X	13635947	13635947	A	G	EGFL6	c.877A>G	NM_015507.4	NP_056322.2:p.(Lys293Glu)	NC_000023.10:g.13635947A>G	VUS	1 lab	3651fadbc6
2:175614676 CHRNA1 T>TC	2	175614676	175614678	T	TC	CHRNA1	c.999dup	NM_000079.4	NP_000070.1:p.(Lys334GlufsTer34)	NC_000002.11:g.175614678dup	VUS	1 lab	3652a9b90a
11:64480873 NRXN2 G>A	11	64480873	64480873	G	A	NRXN2	c.299C>T	NM_015080.4	NP_055895.1:p.(Thr100Met)	NC_000011.9:g.64480873G>A	(Likely) benign	1 lab	3653602a4e
18:52969695 TCF4 T>A	18	52969695	52969695	T	A	TCF4	c.550-22808A>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52969695T>A	VUS	1 lab	3653a74cd4
11:14303236 RRAS2 G>A	11	14303236	14303236	G	A	RRAS2	c.439C>T	NM_012250.6	NP_036382.2:p.(Arg147Trp)	NC_000011.9:g.14303236G>A	(Likely) benign	1 lab	3656abc482
3:16636883 DAZL T>C	3	16636883	16636883	T	C	DAZL	c.508A>G	NM_001351.4	NP_001342.2:p.(Thr170Ala)	NC_000003.11:g.16636883T>C	(Likely) benign	1 lab	3656f6e9bd
5:156672780 ITK G>A	5	156672780	156672780	G	A	ITK	c.1494G>A	NM_005546.4	NP_005537.3:p.(Val498=)	NC_000005.9:g.156672780G>A	VUS	1 lab	365899638b
9:4286248 GLIS3 G>T	9	4286248	4286248	G	T	GLIS3	c.178C>A	NM_001042413.2	NP_001035878.1:p.(Leu60Ile)	NC_000009.11:g.4286248G>T	VUS	1 lab	36590738ac
3:142272240 ATR C>T	3	142272240	142272240	C	T	ATR	c.2634G>A	NM_001184.4	NP_001175.2:p.(Arg878=)	NC_000003.11:g.142272240C>T	VUS	1 lab	365abe87f9
X:135630780 VGLL1 T>A	X	135630780	135630780	T	A	VGLL1	c.247T>A	NM_016267.4	NP_057351.1:p.(Ser83Thr)	NC_000023.10:g.135630780T>A	VUS	1 lab	365ba8baa8
2:163123972 IFIH1 C>T	2	163123972	163123972	C	T	IFIH1	c.2898+17G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163123972C>T	(Likely) benign	1 lab	1df70e714e
3:126732923 PLXNA1 G>A	3	126732923	126732923	G	A	PLXNA1	c.2374G>A	NM_032242.4	NP_115618.3:p.(Gly792Ser)	NC_000003.11:g.126732923G>A	VUS	1 lab	36612996be
20:8782912 PLCB1 A>AT	20	8782912	8782913	A	AT	PLCB1	c.3423+12005dup	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8782913dup	(Likely) benign	1 lab	1df80ba2ff
16:3817813 CREBBP G>A	16	3817813	3817813	G	A	CREBBP	c.3158C>T	NM_004380.3	NP_004371.2:p.(Pro1053Leu)	NC_000016.9:g.3817813G>A	(Likely) benign	1 lab	3662b386ce
2:179594622 TTN C>CA	2	179594622	179594623	C	CA	TTN	c.18357dup	NM_001267550.2	NP_001254479.2:p.(Gly6120TrpfsTer7)	NC_000002.11:g.179594623dup	VUS	1 lab	3662dbcd37
20:22563575 FOXA2 G>T	20	22563575	22563575	G	T	FOXA2	c.305C>A	NM_021784.5	NP_068556.2:p.(Ala102Glu)	NC_000020.10:g.22563575G>T	(Likely) benign	1 lab	3662e25059
19:39914436 PLEKHG2 A>G	19	39914436	39914436	A	G	PLEKHG2	c.2663A>G	NM_022835.3	NP_073746.2:p.(Gln888Arg)	NC_000019.9:g.39914436A>G	VUS	1 lab	366383d519
19:50149437 SCAF1 CAG>C	19	50149437	50149439	CAG	C	SCAF1	c.240_241del	NM_021228.3	NP_067051.2:p.(Gly82HisfsTer2)	NC_000019.9:g.50149438_50149439del	VUS	1 lab	3664efa08e
8:11666124 FDFT1 C>G	8	11666124	11666124	C	G	FDFT1	c.100-179C>G	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666124C>G	(Likely) benign	1 lab	3668f6304c
X:48269486 SSX4B C>T	X	48269486	48269486	C	T	SSX4B	c.215G>A	NM_001034832.5	NP_001030004.1:p.(Arg72His)	NC_000023.10:g.48269486C>T	VUS	1 lab	3669794f4e
5:176721980 NSD1 A>T	5	176721980	176721980	A	T	NSD1	c.7611A>T	NM_022455.5	NP_071900.2:p.(Arg2537Ser)	NC_000005.9:g.176721980A>T	VUS	1 lab	3669e9514c
X:18323172 SCML2 C>T	X	18323172	18323172	C	T	SCML2	c.650G>A	NM_006089.3	NP_006080.1:p.(Cys217Tyr)	NC_000023.10:g.18323172C>T	VUS	1 lab	366a6b3a3f
4:1807817 FGFR3 A>G	4	1807817	1807817	A	G	FGFR3	c.1876A>G	NM_000142.5	NP_000133.1:p.(Thr626Ala)	NC_000004.11:g.1807817A>G	VUS	1 lab	366ae44ade
5:179260612 SQSTM1 CAGG>C	5	179260612	179260620	CAGG	C	SQSTM1	c.1001_1003del	NM_003900.5	NP_003891.1:p.(Gly334del)	NC_000005.9:g.179260618_179260620del	VUS	1 lab	366c7b8540
11:64940222 SPDYC A>G	11	64940222	64940222	A	G	SPDYC	c.527A>G	NM_001008778.3	NP_001008778.2:p.(Gln176Arg)	NC_000011.9:g.64940222A>G	VUS	1 lab	366d19bf52
11:55111613 OR4A16 C>G	11	55111613	55111613	C	G	OR4A16	c.937C>G	NM_001005274.1	NP_001005274.1:p.(Pro313Ala)	NC_000011.9:g.55111613C>G	VUS	1 lab	366f07d5fc
4:186339903 UFSP2 A>G	4	186339903	186339903	A	G	UFSP2	c.104T>C	NM_018359.5	NP_060829.2:p.(Leu35Pro)	NC_000004.11:g.186339903A>G	VUS	1 lab	3675b788ae
2:86270182 POLR1A C>T	2	86270182	86270182	C	T	POLR1A	c.3272G>A	NM_015425.6	NP_056240.2:p.(Ser1091Asn)	NC_000002.11:g.86270182C>T	(Likely) benign	1 lab	36773d171e
X:54012390 PHF8 A>G	X	54012390	54012390	A	G	PHF8	c.1996-8T>C	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54012390A>G	(Likely) benign	1 lab	3677c83928
21:34931565 SON A>T	21	34931565	34931565	A	T	SON	c.6351A>T	NM_138927.4	NP_620305.3:p.(Glu2117Asp)	NC_000021.8:g.34931565A>T	(Likely) benign	1 lab	3678fdf7fe
2:165997318 SCN3A C>G	2	165997318	165997318	C	G	SCN3A	c.1862G>C	NM_006922.4	NP_008853.3:p.(Arg621Pro)	NC_000002.11:g.165997318C>G	VUS	1 lab	3679c75cbe
X:132445294 GPC4 T>C	X	132445294	132445294	T	C	GPC4	c.869A>G	NM_001448.3	NP_001439.2:p.(Asn290Ser)	NC_000023.10:g.132445294T>C	VUS	1 lab	367a78f1ba
5:176721721 NSD1 G>A	5	176721721	176721721	G	A	NSD1	c.7352G>A	NM_022455.5	NP_071900.2:p.(Arg2451Lys)	NC_000005.9:g.176721721G>A	(Likely) benign	1 lab	367ced5c39
11:124972142 TMEM218 C>T	11	124972142	124972142	C	T	TMEM218	c.-5G>A	NM_001258244.2	NP_001245173.1:p.?	NC_000011.9:g.124972142C>T	VUS	1 lab	367ea1d17d
9:35799658 NPR2 A>G	9	35799658	35799658	A	G	NPR2	c.917A>G	NM_003995.4	NP_003986.2:p.(Tyr306Cys)	NC_000009.11:g.35799658A>G	(Likely) pathogenic	1 lab	36835973a8
3:186509567 RFC4 G>A	3	186509567	186509567	G	A	RFC4	c.748C>T	NM_002916.5	NP_002907.1:p.(Arg250Ter)	NC_000003.11:g.186509567G>A	VUS	1 lab	3684498b5a
8:61748851 CHD7 C>T	8	61748851	61748851	C	T	CHD7				NC_000008.10:g.61748851C>T	(Likely) benign	1 lab	1dfe3cee3c
X:77913223 RTL3 T>G	X	77913223	77913223	T	G	RTL3	c.695A>C	NM_152694.3	NP_689907.1:p.(Glu232Ala)	NC_000023.10:g.77913223T>G	(Likely) benign	1 lab	368653769f
11:82895904 PCF11 A>C	11	82895904	82895904	A	C	PCF11	c.5029A>C	NM_001346413.3	NP_001333342.1:p.(Lys1677Gln)	NC_000011.9:g.82895904A>C	VUS	1 lab	36884674bb
15:48051940 SEMA6D A>G	15	48051940	48051940	A	G	SEMA6D	c.-54-2A>G	NM_001358351.3	NP_001345280.1:p.?	NC_000015.9:g.48051940A>G	VUS	1 lab	3689de1101
6:118953772 CEP85L G>A	6	118953772	118953772	G	A	CEP85L	c.76C>T	NM_001042475.3	NP_001035940.1:p.(Pro26Ser)	NC_000006.11:g.118953772G>A	VUS	1 lab	368ca66245
11:108190749 ATM A>C	11	108190749	108190749	A	C	ATM	c.6416A>C	NM_000051.4	NP_000042.3:p.(Glu2139Ala)	NC_000011.9:g.108190749A>C	VUS	1 lab	368d6f078f
3:184074877 CLCN2 G>A	3	184074877	184074877	G	A	CLCN2	c.989C>T	NM_004366.6	NP_004357.3:p.(Ala330Val)	NC_000003.11:g.184074877G>A	VUS	1 lab	36903921ad
10:81053361 ZMIZ1 G>A	10	81053361	81053361	G	A	ZMIZ1	c.1181G>A	NM_020338.4	NP_065071.1:p.(Arg394Gln)	NC_000010.10:g.81053361G>A	(Likely) benign	1 lab	369062c93d
2:230662500 TRIP12 T>C	2	230662500	230662500	T	C	TRIP12	c.3530A>G	NM_001348323.3	NP_001335252.1:p.(Glu1177Gly)	NC_000002.11:g.230662500T>C	(Likely) benign	1 lab	369078960b
5:139493887 PURA G>GGCGGCA	5	139493887	139493894	G	GGCGGCA	PURA	c.123_128dup	NM_005859.5	NP_005850.1:p.(Ser43_Gly44dup)	NC_000005.9:g.139493889_139493894dup	VUS	1 lab	3690ad39e9
X:107224976 TEX13B G>A	X	107224976	107224976	G	A	TEX13B	c.382C>T	NM_031273.2	NP_112563.1:p.(Gln128Ter)	NC_000023.10:g.107224976G>A	(Likely) benign	1 lab	3691b274eb
19:56701686 ZSCAN5B T>C	19	56701686	56701686	T	C	ZSCAN5B	c.998A>G	NM_001080456.5	NP_001073925.2:p.(His333Arg)	NC_000019.9:g.56701686T>C	(Likely) benign	1 lab	3691d57c3f
8:94828616 TMEM67 G>A	8	94828616	94828616	G	A	TMEM67	c.2924G>A	NM_153704.6	NP_714915.3:p.(Arg975His)	NC_000008.10:g.94828616G>A	VUS	1 lab	36925c2e51
6:42978406 PPP2R5D C>T	6	42978406	42978406	C	T	PPP2R5D	c.1486C>T	NM_006245.4	NP_006236.1:p.(Arg496Trp)	NC_000006.11:g.42978406C>T	VUS	1 lab	36926a7677
17:40474319 STAT3 A>T	17	40474319	40474319	A	T	STAT3	c.2082T>A	NM_139276.3	NP_644805.1:p.(His694Gln)	NC_000017.10:g.40474319A>T	VUS	1 lab	3692d83080
15:89398771 ACAN T>C	15	89398771	89398771	T	C	ACAN	c.2955T>C	NM_001369268.1	NP_001356197.1:p.(Thr985=)	NC_000015.9:g.89398771T>C	(Likely) benign	1 lab	3692e7e6d9
5:37044118 NIPBL A>G	5	37044118	37044118	A	G	NIPBL	c.6109-331A>G	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37044118A>G	(Likely) benign	1 lab	3692eecd2d
2:211521242 CPS1 TGGCCAGG>T	2	211521242	211521249	TGGCCAGG	T	CPS1	c.3559-6_3559del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211521243_211521249del	(Likely) benign	1 lab	3693abb5b4
14:50616893 SOS2 C>A	14	50616893	50616893	C	A	SOS2	c.2217G>T	NM_006939.4	NP_008870.2:p.(Lys739Asn)	NC_000014.8:g.50616893C>A	(Likely) benign	1 lab	36940a3051
2:179444665 TTN C>T	2	179444665	179444665	C	T	TTN	c.67348+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179444665C>T	(Likely) pathogenic	1 lab	1d719f3acb
15:40763550 CHST14 G>C	15	40763550	40763550	G	C	CHST14	c.138G>C	NM_130468.4	NP_569735.1:p.(Met46Ile)	NC_000015.9:g.40763550G>C	(Likely) benign	1 lab	36979770a7
17:79818278 P4HB C>T	17	79818278	79818278	C	T	P4HB	c.70G>A	NM_000918.4	NP_000909.2:p.(Asp24Asn)	NC_000017.10:g.79818278C>T	(Likely) benign	1 lab	36989d1b4e
X:140993899 MAGEC1 G>A	X	140993899	140993899	G	A	MAGEC1	c.709G>A	NM_005462.5	NP_005453.2:p.(Val237Met)	NC_000023.10:g.140993899G>A	VUS	1 lab	3698e8ba9a
2:86270264 POLR1A T>C	2	86270264	86270264	T	C	POLR1A	c.3190A>G	NM_015425.6	NP_056240.2:p.(Lys1064Glu)	NC_000002.11:g.86270264T>C	VUS	1 lab	369970b7a5
9:16435778 BNC2 T>C	9	16435778	16435778	T	C	BNC2	c.2414A>G	NM_017637.6	NP_060107.3:p.(His805Arg)	NC_000009.11:g.16435778T>C	VUS	1 lab	3699ad2622
10:50830171 CHAT C>T	10	50830171	50830171	C	T	CHAT	c.727C>T	NM_020549.5	NP_065574.4:p.(Leu243Phe)	NC_000010.10:g.50830171C>T	(Likely) benign	1 lab	369bf1b183
X:24382373 SUPT20HL1 T>TTGCTGC	X	24382373	24382428	T	TTGCTGC	SUPT20HL1	c.1546_1551dup	NM_001136234.3	NP_001129706.3:p.(Ala516_Ala517dup)	NC_000023.10:g.24382423_24382428dup	VUS	1 lab	369e3022b4
1:226016575 EPHX1 C>T	1	226016575	226016575	C	T	EPHX1	c.145C>T	NM_001136018.4	NP_001129490.1:p.(Arg49Cys)	NC_000001.10:g.226016575C>T	(Likely) benign	1 lab	369e654b13
11:687977 DEAF1 C>T	11	687977	687977	C	T	DEAF1	c.598G>A	NM_021008.4	NP_066288.2:p.(Asp200Asn)	NC_000011.9:g.687977C>T	VUS	1 lab	369eb71436
1:153658297 NPR1 G>A	1	153658297	153658297	G	A	NPR1	c.1621G>A	NM_000906.4	NP_000897.3:p.(Gly541Ser)	NC_000001.10:g.153658297G>A	(Likely) benign	1 lab	36a33e3f4a
7:107557291 DLD T>A	7	107557291	107557291	T	A	DLD	c.928T>A	NM_000108.5	NP_000099.2:p.(Leu310Met)	NC_000007.13:g.107557291T>A	VUS	1 lab	36a39f260a
3:105400654 CBLB T>C	3	105400654	105400654	T	C	CBLB	c.2210A>G	NM_170662.5	NP_733762.2:p.(Asp737Gly)	NC_000003.11:g.105400654T>C	VUS	1 lab	36a4582bf8
3:66463388 LRIG1 C>T	3	66463388	66463388	C	T	LRIG1	c.698G>A	NM_015541.3	NP_056356.2:p.(Gly233Glu)	NC_000003.11:g.66463388C>T	VUS	1 lab	36a566ee80
12:122018814 KDM2B C>T	12	122018814	122018814	C	T	KDM2B	c.3G>A	NM_032590.5	NP_115979.3:p.(Met1?)	NC_000012.11:g.122018814C>T	VUS	1 lab	1d75fe4196
2:228167669 COL4A3 C>T	2	228167669	228167669	C	T	COL4A3	c.3883-85C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228167669C>T	(Likely) benign	1 lab	1dfebbc62a
19:45411909 APOE A>C	19	45411909	45411909	A	C	APOE	c.356A>C	NM_000041.4	NP_000032.1:p.(Gln119Pro)	NC_000019.9:g.45411909A>C	VUS	1 lab	36a99cad18
8:41790756 KAT6A G>GGCTGTGGCT	8	41790756	41790772	G	GGCTGTGGCT	KAT6A	c.4973_4981dup	NM_006766.5	NP_006757.2:p.(Gln1658_Gln1660dup)	NC_000008.10:g.41790764_41790772dup	VUS	1 lab	36ab325bee
6:96999308 UFL1 G>T	6	96999308	96999308	G	T	UFL1	c.1819-1G>T	NM_015323.5	NP_056138.1:p.?	NC_000006.11:g.96999308G>T	(Likely) pathogenic	1 lab	36abc968ee
6:29911320 HLA-A G>T	6	29911320	29911320	G	T	HLA-A	c.619G>T	NM_002116.8	NP_002107.3:p.(Asp207Tyr)	NC_000006.11:g.29911320G>T	VUS	1 lab	36ada15d4c
3:157822870 SHOX2 G>C	3	157822870	157822870	G	C	SHOX2	c.346+598C>G	NM_001163678.2	NP_001157150.1:p.?	NC_000003.11:g.157822870G>C	VUS	1 lab	36ade15a02
11:124739343 ROBO3 CAG>C	11	124739343	124739345	CAG	C	ROBO3	c.488-2_488-1del	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124739344_124739345del	(Likely) benign	1 lab	36ae21395d
6:27792088 H4C11 C>G	6	27792088	27792088	C	G	H4C11	c.186C>G	NM_021968.4	NP_068803.1:p.(Phe62Leu)	NC_000006.11:g.27792088C>G	VUS	1 lab	36afb5d1cd
8:3263579 CSMD1 C>T	8	3263579	3263579	C	T	CSMD1	c.2236G>A	NM_033225.6	NP_150094.5:p.(Val746Ile)	NC_000008.10:g.3263579C>T	VUS	1 lab	36b094a9f9
16:30567239 ZNF764 A>C	16	30567239	30567239	A	C	ZNF764	c.500T>G	NM_001172679.2	NP_001166150.1:p.(Val167Gly)	NC_000016.9:g.30567239A>C	VUS	1 lab	36b365cb87
1:94054750 BCAR3 C>T	1	94054750	94054750	C	T	BCAR3	c.713G>A	NM_003567.4	NP_003558.1:p.(Arg238His)	NC_000001.10:g.94054750C>T	(Likely) benign	1 lab	36b36b4f6a
4:1902774 NSD2 A>G	4	1902774	1902774	A	G	NSD2	c.393A>G	NM_001042424.3	NP_001035889.1:p.(Thr131=)	NC_000004.11:g.1902774A>G	(Likely) benign	1 lab	36b3c9e6d7
X:102192308 RAB40AL G>C	X	102192308	102192308	G	C	RAB40AL	c.62G>C	NM_001031834.1	NP_001027004.1:p.(Gly21Ala)	NC_000023.10:g.102192308G>C	VUS	1 lab	36b3f904d4
X:50052830 CCNB3 A>T	X	50052830	50052830	A	T	CCNB3	c.1661A>T	NM_033031.3	NP_149020.2:p.(Asp554Val)	NC_000023.10:g.50052830A>T	VUS	1 lab	36b44699c1
15:99482567 IGF1R A>C	15	99482567	99482567	A	C	IGF1R	c.3435A>C	NM_000875.5	NP_000866.1:p.(Glu1145Asp)	NC_000015.9:g.99482567A>C	(Likely) benign	1 lab	36b44700f6
16:30736165 SRCAP C>T	16	30736165	30736165	C	T	SRCAP	c.5420C>T	NM_006662.3	NP_006653.2:p.(Ala1807Val)	NC_000016.9:g.30736165C>T	(Likely) benign	1 lab	36b492a33e
2:179582456 TTN C>T	2	179582456	179582456	C	T	TTN	c.25145G>A	NM_001267550.2	NP_001254479.2:p.(Arg8382His)	NC_000002.11:g.179582456C>T	VUS	1 lab	36b62c5f3e
19:42752786 ERF C>A	19	42752786	42752786	C	A	ERF	c.1478G>T	NM_006494.4	NP_006485.2:p.(Arg493Leu)	NC_000019.9:g.42752786C>A	(Likely) benign	1 lab	36b65e1ef8
5:140810536 PCDHGA12 T>C	5	140810536	140810536	T	C	PCDHGA12	c.210T>C	NM_003735.3	NP_003726.1:p.(Gly70=)	NC_000005.9:g.140810536T>C	VUS	1 lab	36b68910c7
13:28498503 PDX1 C>G	13	28498503	28498503	C	G	PDX1	c.517C>G	NM_000209.4	NP_000200.1:p.(Arg173Gly)	NC_000013.10:g.28498503C>G	(Likely) pathogenic	1 lab	36b79f5660
19:58945464 ZNF132 G>T	19	58945464	58945464	G	T	ZNF132	c.1347C>A	NM_003433.4	NP_003424.3:p.(His449Gln)	NC_000019.9:g.58945464G>T	VUS	1 lab	36b7b124a6
18:52921795 TCF4 C>A	18	52921795	52921795	C	A	TCF4	c.1283G>T	NM_001083962.2	NP_001077431.1:p.(Gly428Val)	NC_000018.9:g.52921795C>A	VUS	1 lab	36b7dcea7e
17:7357754 CHRNB1 C>T	17	7357754	7357754	C	T	CHRNB1	c.959C>T	NM_000747.3	NP_000738.2:p.(Thr320Ile)	NC_000017.10:g.7357754C>T	VUS	1 lab	36b899dd16
2:242684182 D2HGDH G>A	2	242684182	242684182	G	A	D2HGDH	c.743G>A	NM_152783.5	NP_689996.4:p.(Gly248Asp)	NC_000002.11:g.242684182G>A	VUS	1 lab	36bb88ae0d
19:12951358 MAST1 G>A	19	12951358	12951358	G	A	MAST1	c.172+10G>A	NM_014975.3	NP_055790.1:p.?	NC_000019.9:g.12951358G>A	(Likely) benign	1 lab	36bbaf3aa7
15:91424957 FURIN G>A	15	91424957	91424957	G	A	FURIN	c.2234G>A	NM_002569.4	NP_002560.1:p.(Arg745Gln)	NC_000015.9:g.91424957G>A	(Likely) benign	1 lab	36bc4aa263
X:14930365 MOSPD2 C>T	X	14930365	14930365	C	T	MOSPD2	c.880-6C>T	NM_152581.4	NP_689794.1:p.?	NC_000023.10:g.14930365C>T	(Likely) benign	1 lab	36bce10999
12:124366150 DNAH10 C>CT	12	124366150	124366163	C	CT	DNAH10	c.8635-9dup	NM_001372106.1	NP_001359035.1:p.?	NC_000012.11:g.124366163dup	VUS	1 lab	36bd8d0ba0
4:123156000 BLTP1 C>T	4	123156000	123156000	C	T	BLTP1	c.3396C>T	NM_001384125.1	NP_001371054.1:p.(Gly1132=)	NC_000004.11:g.123156000C>T	(Likely) benign	1 lab	36be46f51e
2:190541743 ANKAR G>A	2	190541743	190541743	G	A	ANKAR	c.527G>A	NM_001378068.1	NP_001364997.1:p.(Arg176His)	NC_000002.11:g.190541743G>A	(Likely) benign	1 lab	36be4ef08b
2:239237388 TRAF3IP1 G>A	2	239237388	239237388	G	A	TRAF3IP1	c.416G>A	NM_015650.4	NP_056465.2:p.(Arg139Gln)	NC_000002.11:g.239237388G>A	(Likely) benign	1 lab	36bf72fe5c
5:5464533 ICE1 C>A	5	5464533	5464533	C	A	ICE1	c.5086C>A	NM_015325.3	NP_056140.1:p.(Pro1696Thr)	NC_000005.9:g.5464533C>A	(Likely) benign	1 lab	36c39982f1
1:27098992 ARID1A G>A	1	27098992	27098992	G	A	ARID1A	c.3408G>A	NM_006015.6	NP_006006.3:p.(Ala1136=)	NC_000001.10:g.27098992G>A	VUS	1 lab	36c40506e9
13:101735516 NALCN A>G	13	101735516	101735516	A	G	NALCN	c.3617T>C	NM_052867.4	NP_443099.1:p.(Ile1206Thr)	NC_000013.10:g.101735516A>G	VUS	1 lab	36c437861e
4:187584755 FAT1 G>A	4	187584755	187584755	G	A	FAT1	c.3278C>T	NM_005245.4	NP_005236.2:p.(Thr1093Met)	NC_000004.11:g.187584755G>A	VUS	1 lab	36c4b8db3b
2:179587192 TTN C>T	2	179587192	179587192	C	T	TTN	c.22322G>A	NM_001267550.2	NP_001254479.2:p.(Arg7441Gln)	NC_000002.11:g.179587192C>T	(Likely) benign	1 lab	36c7407bae
1:220208309 EPRS1 T>C	1	220208309	220208309	T	C	EPRS1	c.178A>G	NM_004446.3	NP_004437.2:p.(Arg60Gly)	NC_000001.10:g.220208309T>C	VUS	1 lab	36c802f46c
5:140568844 PCDHB9 T>G	5	140568844	140568844	T	G	PCDHB9	c.1953T>G	NM_019119.5	NP_061992.3:p.(Pro651=)	NC_000005.9:g.140568844T>G	(Likely) benign	1 lab	36c8de6104
3:122003976 CASR T>C	3	122003976	122003976	T	C	CASR	c.3175T>C	NM_000388.4	NP_000379.3:p.(Ser1059Pro)	NC_000003.11:g.122003976T>C	VUS	1 lab	36c924e86b
2:20200279 MATN3 A>T	2	20200279	20200279	A	T	MATN3	c.1091T>A	NM_002381.5	NP_002372.1:p.(Val364Glu)	NC_000002.11:g.20200279A>T	VUS	1 lab	36cae92f04
3:78763651 ROBO1 G>C	3	78763651	78763651	G	C	ROBO1	c.941C>G	NM_002941.4	NP_002932.1:p.(Thr314Ser)	NC_000003.11:g.78763651G>C	VUS	1 lab	36cb002aa6
16:7759141 RBFOX1 C>G	16	7759141	7759141	C	G	RBFOX1	c.1071+8C>G	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.7759141C>G	(Likely) benign	1 lab	36cbea06d7
7:100405100 EPHB4 G>C	7	100405100	100405100	G	C	EPHB4	c.2221C>G	NM_004444.5	NP_004435.3:p.(Leu741Val)	NC_000007.13:g.100405100G>C	(Likely) pathogenic	1 lab	36ccb80c65
X:135770113 ARHGEF6 A>G	X	135770113	135770113	A	G	ARHGEF6	c.1223T>C	NM_004840.3	NP_004831.1:p.(Ile408Thr)	NC_000023.10:g.135770113A>G	VUS	1 lab	36cd0bf830
7:44187342 GCK C>G	7	44187342	44187342	C	G	GCK	c.770G>C	NM_000162.5	NP_000153.1:p.(Trp257Ser)	NC_000007.13:g.44187342C>G	VUS	1 lab	36ce61008f
5:61642958 KIF2A CCG>C	5	61642958	61642960	CCG	C	KIF2A	c.67_68del	NM_001098511.3	NP_001091981.1:p.(Arg23AsnfsTer11)	NC_000005.9:g.61642959_61642960del	VUS	1 lab	1d7a64d3f2
12:94243875 CRADD C>T	12	94243875	94243875	C	T	CRADD	c.428C>T	NM_003805.5	NP_003796.1:p.(Thr143Met)	NC_000012.11:g.94243875C>T	VUS	1 lab	36cf4cd73c
4:5617202 EVC2 C>T	4	5617202	5617202	C	T	EVC2	c.2776G>A	NM_147127.5	NP_667338.3:p.(Glu926Lys)	NC_000004.11:g.5617202C>T	(Likely) benign	1 lab	36cfbdd524
17:6329931 AIPL1 G>A	17	6329931	6329931	G	A	AIPL1	c.784+4C>T	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6329931G>A	VUS	1 lab	36d03e3c1f
16:2820363 SRRM2 C>T	16	2820363	2820363	C	T	SRRM2	c.8032C>T	NM_016333.4	NP_057417.3:p.(Pro2678Ser)	NC_000016.9:g.2820363C>T	VUS	1 lab	36d0a61f0a
2:128051099 ERCC3 G>A	2	128051099	128051099	G	A	ERCC3	c.224C>T	NM_000122.2	NP_000113.1:p.(Pro75Leu)	NC_000002.11:g.128051099G>A	VUS	1 lab	36d356ae37
17:53040777 COX11 T>C	17	53040777	53040777	T	C	COX11	c.538A>G	NM_004375.5	NP_004366.1:p.(Thr180Ala)	NC_000017.10:g.53040777T>C	VUS	1 lab	36d43a9bae
6:32166924 NOTCH4 T>C	6	32166924	32166924	T	C	NOTCH4	c.4316-2A>G	NM_004557.4	NP_004548.3:p.?	NC_000006.11:g.32166924T>C	(Likely) pathogenic	1 lab	36d7867c54
17:1628882 WDR81 G>A	17	1628882	1628882	G	A	WDR81	c.629G>A	NM_001163809.2	NP_001157281.1:p.(Arg210Gln)	NC_000017.10:g.1628882G>A	(Likely) benign	1 lab	36d80f76bf
4:191003274 MISSING G>C	4	191003274	191003274	G	C	MISSING				NC_000004.11:g.191003274G>C	VUS	1 lab	36d8342828
2:233348875 ECEL1 G>A	2	233348875	233348875	G	A	ECEL1	c.1243C>T	NM_004826.4	NP_004817.2:p.(Pro415Ser)	NC_000002.11:g.233348875G>A	(Likely) benign	1 lab	36d8bc8293
17:11701056 DNAH9 A>G	17	11701056	11701056	A	G	DNAH9	c.8366A>G	NM_001372.4	NP_001363.2:p.(Asn2789Ser)	NC_000017.10:g.11701056A>G	VUS	1 lab	36d91b36cb
4:73188822 ADAMTS3 C>T	4	73188822	73188822	C	T	ADAMTS3	c.862-8G>A	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73188822C>T	(Likely) benign	1 lab	36da3a6c32
17:45384939 ITGB3 C>T	17	45384939	45384939	C	T	ITGB3	c.2237C>T	NM_000212.3	NP_000203.2:p.(Thr746Ile)	NC_000017.10:g.45384939C>T	VUS	1 lab	36da4db38e
22:24726335 SPECC1L T>A	22	24726335	24726335	T	A	SPECC1L	c.2332T>A	NM_015330.6	NP_056145.5:p.(Leu778Ile)	NC_000022.10:g.24726335T>A	VUS	1 lab	36dab926b4
4:48517232 FRYL T>C	4	48517232	48517232	T	C	FRYL	c.7750A>G	NM_015030.2	NP_055845.1:p.(Ile2584Val)	NC_000004.11:g.48517232T>C	(Likely) benign	1 lab	36db873793
15:27193349 GABRA5 C>T	15	27193349	27193349	C	T	GABRA5	c.1358C>T	NM_000810.4	NP_000801.1:p.(Pro453Leu)	NC_000015.9:g.27193349C>T	VUS	1 lab	1d7b95c368
2:196682510 DNAH7 T>C	2	196682510	196682510	T	C	DNAH7	c.9335A>G	NM_018897.3	NP_061720.2:p.(Asp3112Gly)	NC_000002.11:g.196682510T>C	VUS	1 lab	36dd8dc242
7:98497398 TRRAP G>A	7	98497398	98497398	G	A	TRRAP	c.800+8G>A	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98497398G>A	(Likely) benign	1 lab	36ddf3fcfb
6:31916013 CFB T>C	6	31916013	31916013	T	C	CFB	c.898-138T>C	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31916013T>C	(Likely) benign	1 lab	1e0489decb
4:175414383 HPGD A>G	4	175414383	175414383	A	G	HPGD	c.581T>C	NM_000860.6	NP_000851.2:p.(Ile194Thr)	NC_000004.11:g.175414383A>G	VUS	1 lab	36e3ee3a85
X:38033580 SRPX T>C	X	38033580	38033580	T	C	SRPX	c.182A>G	NM_006307.5	NP_006298.1:p.(Lys61Arg)	NC_000023.10:g.38033580T>C	VUS	1 lab	36e41d62b2
1:168065790 GPR161 C>T	1	168065790	168065790	C	T	GPR161	c.1055G>A	NM_001375883.1	NP_001362812.1:p.(Arg352Gln)	NC_000001.10:g.168065790C>T	(Likely) benign	1 lab	36e467e6d5
17:74475270 RHBDF2 C>T	17	74475270	74475270	C	T	RHBDF2	c.362G>A	NM_001005498.4	NP_001005498.2:p.(Arg121His)	NC_000017.10:g.74475270C>T	(Likely) benign	1 lab	36e80ab102
X:119513446 ATP1B4 G>A	X	119513446	119513446	G	A	ATP1B4	c.1031G>A	NM_001142447.3	NP_001135919.1:p.(Arg344His)	NC_000023.10:g.119513446G>A	(Likely) benign	1 lab	36ea4ce6f3
2:187558952 FAM171B G>T	2	187558952	187558952	G	T	FAM171B	c.52G>T	NM_177454.4	NP_803237.3:p.(Val18Leu)	NC_000002.11:g.187558952G>T	VUS	1 lab	36eb51472d
7:73477982 ELN CGGAGTCGGAGGGCTT>C	7	73477982	73478002	CGGAGTCGGAGGGCTT	C	ELN	c.1956_1970del	NM_000501.4	NP_000492.2:p.(Gly653_Val657del)	NC_000007.13:g.73477988_73478002del	VUS	1 lab	36edc2313c
X:153594472 FLNA A>G	X	153594472	153594472	A	G	FLNA	c.1349T>C	NM_001110556.2	NP_001104026.1:p.(Met450Thr)	NC_000023.10:g.153594472A>G	(Likely) benign	1 lab	36ede59462
18:55364892 ATP8B1 T>A	18	55364892	55364892	T	A	ATP8B1	c.656A>T	NM_001374385.1	NP_001361314.1:p.(Glu219Val)	NC_000018.9:g.55364892T>A	VUS	1 lab	36eef2d059
1:151377871 POGZ G>A	1	151377871	151377871	G	A	POGZ	c.3640C>T	NM_015100.4	NP_055915.2:p.(Gln1214Ter)	NC_000001.10:g.151377871G>A	(Likely) pathogenic	1 lab	36efee0008
11:17424307 ABCC8 C>T	11	17424307	17424307	C	T	ABCC8	c.3558-7G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17424307C>T	(Likely) benign	1 lab	36f035276e
5:137710904 KDM3B C>T	5	137710904	137710904	C	T	KDM3B	c.474+9C>T	NM_016604.4	NP_057688.3:p.?	NC_000005.9:g.137710904C>T	(Likely) benign	1 lab	36f14215de
16:53860314 FTO T>G	16	53860314	53860314	T	G	FTO	c.662T>G	NM_001080432.3	NP_001073901.1:p.(Phe221Cys)	NC_000016.9:g.53860314T>G	VUS	1 lab	36f1939286
X:595376 SHOX C>T	X	595376	595376	C	T	SHOX	c.301C>T	NM_000451.3	NP_000442.1:p.(Arg101Cys)	NC_000023.10:g.595376C>T	(Likely) pathogenic	1 lab	36f3174d0a
1:19557912 EMC1 G>A	1	19557912	19557912	G	A	EMC1	c.1787C>T	NM_015047.3	NP_055862.1:p.(Ser596Leu)	NC_000001.10:g.19557912G>A	(Likely) benign	1 lab	36f5e5152a
10:122666300 WDR11 T>G	10	122666300	122666300	T	G	WDR11	c.3450T>G	NM_018117.12	NP_060587.8:p.(Phe1150Leu)	NC_000010.10:g.122666300T>G	VUS	1 lab	36f6157e0b
4:9250440 USP17L18 T>G	4	9250440	9250440	T	G	USP17L18	c.85T>G	NM_001256859.1	NP_001243788.1:p.(Phe29Val)	NC_000004.11:g.9250440T>G	(Likely) benign	1 lab	36f61cff7a
3:42740380 HHATL C>T	3	42740380	42740380	C	T	HHATL	c.303G>A	NM_020707.4	NP_065758.3:p.(Met101Ile)	NC_000003.11:g.42740380C>T	VUS	1 lab	39b1d8f951
19:16952782 SIN3B A>G	19	16952782	16952782	A	G	SIN3B	c.582+3A>G	NM_001297595.2	NP_001284524.1:p.?	NC_000019.9:g.16952782A>G	(Likely) benign	1 lab	36f649f61b
4:95173791 SMARCAD1 A>C	4	95173791	95173791	A	C	SMARCAD1	c.914A>C	NM_001128429.3	NP_001121901.1:p.(Glu305Ala)	NC_000004.11:g.95173791A>C	VUS	1 lab	1d85ca2817
15:84908560 GOLGA6L4 C>T	15	84908560	84908560	C	T	GOLGA6L4	c.454C>T	NM_001267536.3	NP_001254465.2:p.(Pro152Ser)	NC_000015.9:g.84908560C>T	(Likely) benign	1 lab	36f883b63c
2:69351725 ANTXR1 G>A	2	69351725	69351725	G	A	ANTXR1	c.901G>A	NM_032208.3	NP_115584.1:p.(Asp301Asn)	NC_000002.11:g.69351725G>A	(Likely) benign	1 lab	36f8b6881a
3:46943350 PTH1R G>A	3	46943350	46943350	G	A	PTH1R	c.1211G>A	NM_000316.3	NP_000307.1:p.(Arg404Gln)	NC_000003.11:g.46943350G>A	VUS	1 lab	36f9162da6
1:10707882 CASZ1 G>C	1	10707882	10707882	G	C	CASZ1	c.3473C>G	NM_001079843.3	NP_001073312.1:p.(Pro1158Arg)	NC_000001.10:g.10707882G>C	VUS	1 lab	36f94e60b0
12:125432440 DHX37 G>C	12	125432440	125432440	G	C	DHX37	c.3389-7C>G	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125432440G>C	(Likely) benign	1 lab	36fba9163c
2:220428260 OBSL1 G>A	2	220428260	220428260	G	A	OBSL1	c.2497C>T	NM_015311.3	NP_056126.1:p.(Arg833Ter)	NC_000002.11:g.220428260G>A	(Likely) pathogenic	1 lab	36fd2f5465
6:4995452 RPP40 C>A	6	4995452	4995452	C	A	RPP40	c.952G>T	NM_006638.4	NP_006629.2:p.(Ala318Ser)	NC_000006.11:g.4995452C>A	(Likely) benign	1 lab	36ff577c9c
11:2466620 KCNQ1 C>A	11	2466620	2466620	C	A	KCNQ1	c.292C>A	NM_000218.3	NP_000209.2:p.(Arg98Ser)	NC_000011.9:g.2466620C>A	VUS	1 lab	37010d2082
12:56495534 ERBB3 C>G	12	56495534	56495534	C	G	ERBB3	c.3724C>G	NM_001982.4	NP_001973.2:p.(Pro1242Ala)	NC_000012.11:g.56495534C>G	VUS	1 lab	3702b1c4b9
19:50813024 MYH14 T>TGC	19	50813024	50813025	T	TGC	MYH14	c.6088_6089insGC	NM_001145809.2	NP_001139281.1:p.(Ser2030CysfsTer40)	NC_000019.9:g.50813024_50813025insGC	(Likely) benign	1 lab	3703c69e14
2:42671597 KCNG3 G>A	2	42671597	42671597	G	A	KCNG3	c.788C>T	NM_133329.6	NP_579875.1:p.(Thr263Met)	NC_000002.11:g.42671597G>A	VUS	1 lab	3a31eec7b7
2:109399185 RANBP2 G>A	2	109399185	109399185	G	A	RANBP2	c.9236G>A	NM_006267.5	NP_006258.3:p.(Arg3079Gln)	NC_000002.11:g.109399185G>A	VUS	1 lab	37083becd1
15:86163336 AKAP13 A>G	15	86163336	86163336	A	G	AKAP13	c.4162-19269A>G	NM_007200.5	NP_009131.2:p.?	NC_000015.9:g.86163336A>G	(Likely) benign	1 lab	3709eab1b5
10:112323198 SMC3 C>A	10	112323198	112323198	C	A	SMC3				NC_000010.10:g.112323198C>A	VUS	1 lab	370ac5279a
22:19127122 ESS2 T>C	22	19127122	19127122	T	C	ESS2	c.688+3A>G	NM_022719.3	NP_073210.1:p.?	NC_000022.10:g.19127122T>C	(Likely) benign	1 lab	370b608dd3
5:98237004 CHD1 G>A	5	98237004	98237004	G	A	CHD1	c.473C>T	NM_001270.4	NP_001261.2:p.(Ser158Phe)	NC_000005.9:g.98237004G>A	VUS	1 lab	1d873bcda7
3:189608663 TP63 T>G	3	189608663	189608663	T	G	TP63	c.1738T>G	NM_003722.5	NP_003713.3:p.(Ser580Ala)	NC_000003.11:g.189608663T>G	VUS	1 lab	370ca2bf8d
5:176824067 SLC34A1 G>A	5	176824067	176824067	G	A	SLC34A1	c.1408G>A	NM_003052.5	NP_003043.3:p.(Ala470Thr)	NC_000005.9:g.176824067G>A	VUS	1 lab	370e3b561c
14:75497274 MLH3 C>A	14	75497274	75497274	C	A	MLH3	c.3959G>T	NM_001040108.2	NP_001035197.1:p.(Arg1320Ile)	NC_000014.8:g.75497274C>A	VUS	1 lab	370ef95cde
16:56545139 BBS2 GA>G	16	56545139	56545140	GA	G	BBS2	c.402del	NM_031885.5	NP_114091.4:p.(Ala136ArgfsTer65)	NC_000016.9:g.56545140del	(Likely) pathogenic	1 lab	3712519c37
1:39851471 MACF1 C>G	1	39851471	39851471	C	G	MACF1	c.14214C>G	NM_001394062.1	NP_001380991.1:p.(His4738Gln)	NC_000001.10:g.39851471C>G	VUS	1 lab	371277d6fd
5:71492247 MAP1B A>C	5	71492247	71492247	A	C	MAP1B	c.3065A>C	NM_005909.5	NP_005900.2:p.(Glu1022Ala)	NC_000005.9:g.71492247A>C	(Likely) benign	1 lab	371320cd07
2:150426649 MMADHC CAA>C	2	150426649	150426654	CAA	C	MMADHC	c.728_729del	NM_015702.3	NP_056517.1:p.(Phe243Ter)	NC_000002.11:g.150426653_150426654del	VUS	1 lab	3713516200
8:105456562 DPYS A>G	8	105456562	105456562	A	G	DPYS	c.707T>C	NM_001385.3	NP_001376.1:p.(Ile236Thr)	NC_000008.10:g.105456562A>G	VUS	1 lab	37137f0180
16:89703615 DPEP1 G>A	16	89703615	89703615	G	A	DPEP1	c.595G>A	NM_001389466.1	NP_001376395.1:p.(Val199Met)	NC_000016.9:g.89703615G>A	VUS	1 lab	3713f20d8b
15:63943540 HERC1 A>T	15	63943540	63943540	A	T	HERC1	c.10458T>A	NM_003922.4	NP_003913.3:p.(Asp3486Glu)	NC_000015.9:g.63943540A>T	(Likely) benign	1 lab	37177d49fb
X:67733173 YIPF6 G>A	X	67733173	67733173	G	A	YIPF6	c.191G>A	NM_173834.4	NP_776195.2:p.(Arg64His)	NC_000023.10:g.67733173G>A	VUS	1 lab	37186b7574
1:225156549 DNAH14 G>A	1	225156549	225156549	G	A	DNAH14	c.740G>A	NM_001367479.1	NP_001354408.1:p.(Arg247Gln)	NC_000001.10:g.225156549G>A	VUS	1 lab	371a8420e5
12:52960836 KRT74 T>C	12	52960836	52960836	T	C	KRT74	c.1507A>G	NM_175053.4	NP_778223.2:p.(Thr503Ala)	NC_000012.11:g.52960836T>C	(Likely) benign	1 lab	371ad6251a
4:1978199 NSD2 T>C	4	1978199	1978199	T	C	NSD2	c.3622-3T>C	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1978199T>C	(Likely) benign	1 lab	371b11d5c6
15:90211041 PLIN1 G>A	15	90211041	90211041	G	A	PLIN1	c.772-17C>T	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90211041G>A	(Likely) benign	1 lab	371b761f3c
3:12434174 PPARG G>A	3	12434174	12434174	G	A	PPARG	c.452G>A	NM_138711.6	NP_619725.3:p.(Arg151Gln)	NC_000003.11:g.12434174G>A	VUS	1 lab	371e7ac103
14:77909019 VIPAS39 A>G	14	77909019	77909019	A	G	VIPAS39	c.632-14T>C	NM_001193314.2	NP_001180243.1:p.?	NC_000014.8:g.77909019A>G	(Likely) benign	1 lab	1e07b3a9b8
16:85667547 GSE1 C>T	16	85667547	85667547	C	T	GSE1	c.35C>T	NM_014615.5	NP_055430.1:p.(Ser12Leu)	NC_000016.9:g.85667547C>T	VUS	1 lab	372046a27d
19:1399892 GAMT G>A	19	1399892	1399892	G	A	GAMT	c.227C>T	NM_000156.6	NP_000147.1:p.(Ser76Leu)	NC_000019.9:g.1399892G>A	VUS	1 lab	37213b50b3
11:130060012 ST14 G>A	11	130060012	130060012	G	A	ST14	c.603G>A	NM_021978.4	NP_068813.1:p.(Thr201=)	NC_000011.9:g.130060012G>A	VUS	1 lab	3721b2a02e
12:56487657 ERBB3 G>C	12	56487657	56487657	G	C	ERBB3	c.1590G>C	NM_001982.4	NP_001973.2:p.(Val530=)	NC_000012.11:g.56487657G>C	(Likely) benign	1 lab	3721cc9351
3:11301810 HRH1 T>C	3	11301810	11301810	T	C	HRH1	c.1087T>C	NM_001098212.2	NP_001091682.1:p.(Ser363Pro)	NC_000003.11:g.11301810T>C	VUS	1 lab	372325ba38
20:10393702 MKKS A>C	20	10393702	10393702	A	C	MKKS	c.461T>G	NM_170784.3	NP_740754.1:p.(Val154Gly)	NC_000020.10:g.10393702A>C	(Likely) pathogenic	1 lab	37236a01ce
6:29640662 ZFP57 T>C	6	29640662	29640662	T	C	ZFP57	c.1226A>G	NM_001109809.5	NP_001103279.2:p.(Glu409Gly)	NC_000006.11:g.29640662T>C	(Likely) benign	1 lab	3725aac8c5
2:179188943 OSBPL6 G>C	2	179188943	179188943	G	C	OSBPL6	c.142G>C	NM_032523.4	NP_115912.1:p.(Glu48Gln)	NC_000002.11:g.179188943G>C	VUS	1 lab	3725c06e75
6:31928123 SKIC2 T>G	6	31928123	31928123	T	G	SKIC2	c.354+9T>G	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31928123T>G	(Likely) benign	1 lab	37270c98b8
12:49434903 KMT2D C>T	12	49434903	49434903	C	T	KMT2D	c.6650G>A	NM_003482.4	NP_003473.3:p.(Arg2217His)	NC_000012.11:g.49434903C>T	(Likely) benign	1 lab	3729227e08
15:76189387 UBE2Q2 A>G	15	76189387	76189387	A	G	UBE2Q2	c.1081A>G	NM_173469.4	NP_775740.1:p.(Ile361Val)	NC_000015.9:g.76189387A>G	VUS	1 lab	37296419d6
19:42752710 ERF A>C	19	42752710	42752710	A	C	ERF	c.1554T>G	NM_006494.4	NP_006485.2:p.(Pro518=)	NC_000019.9:g.42752710A>C	(Likely) benign	1 lab	1d8796a0b6
21:44474020 CBS G>A	21	44474020	44474020	G	A	CBS	c.1626C>T	NM_000071.3	NP_000062.1:p.(Phe542=)	NC_000021.8:g.44474020G>A	(Likely) benign	1 lab	372a430259
1:47717160 STIL G>A	1	47717160	47717160	G	A	STIL	c.3515C>T	NM_001048166.1	NP_001041631.1:p.(Ser1172Phe)	NC_000001.10:g.47717160G>A	VUS	1 lab	372a5bfbec
3:9027529 SRGAP3 GCAC>G	3	9027529	9027535	GCAC	G	SRGAP3	c.2971_2973del	NM_014850.4	NP_055665.1:p.(Val991del)	NC_000003.11:g.9027533_9027535del	VUS	1 lab	372b033ae3
X:41075905 USP9X G>A	X	41075905	41075905	G	A	USP9X	c.6085G>A	NM_001039591.3	NP_001034680.2:p.(Gly2029Arg)	NC_000023.10:g.41075905G>A	VUS	1 lab	372c174da6
8:6296482 MCPH1 G>A	8	6296482	6296482	G	A	MCPH1	c.445G>A	NM_024596.5	NP_078872.3:p.(Val149Ile)	NC_000008.10:g.6296482G>A	VUS	1 lab	372cd719d0
17:11790209 DNAH9 C>T	17	11790209	11790209	C	T	DNAH9	c.11039C>T	NM_001372.4	NP_001363.2:p.(Ala3680Val)	NC_000017.10:g.11790209C>T	(Likely) benign	1 lab	372f84829a
12:56493973 ERBB3 A>C	12	56493973	56493973	A	C	ERBB3	c.3145A>C	NM_001982.4	NP_001973.2:p.(Ser1049Arg)	NC_000012.11:g.56493973A>C	VUS	1 lab	372fd38fea
19:13184309 NFIX GAGTA>G	19	13184309	13184316	GAGTA	G	NFIX	c.697+3_697+6del	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13184313_13184316del	VUS	1 lab	3730283cfd
15:89401594 ACAN A>G	15	89401594	89401594	A	G	ACAN	c.5778A>G	NM_001369268.1	NP_001356197.1:p.(Gly1926=)	NC_000015.9:g.89401594A>G	(Likely) benign	1 lab	373125678d
2:106006683 FHL2 G>A	2	106006683	106006683	G	A	FHL2	c.-24-3686C>T	NM_001318895.3	NP_001305824.1:p.?	NC_000002.11:g.106006683G>A	(Likely) benign	1 lab	373166ea21
13:101707687 NALCN A>ACAGT	13	101707687	101707694	A	ACAGT	NALCN	c.5173_5176dup	NM_052867.4	NP_443099.1:p.(Val1726AspfsTer10)	NC_000013.10:g.101707691_101707694dup	VUS	1 lab	3733bd1449
14:31552794 AP4S1 TG>T	14	31552794	31552796	TG	T	AP4S1	c.306+3006del	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31552796del	VUS	1 lab	3733f0dfca
5:42700054 GHR C>T	5	42700054	42700054	C	T	GHR	c.568C>T	NM_000163.5	NP_000154.1:p.(Leu190=)	NC_000005.9:g.42700054C>T	(Likely) benign	1 lab	3735222d58
X:122799573 THOC2 A>G	X	122799573	122799573	A	G	THOC2	c.1306T>C	NM_001081550.2	NP_001075019.1:p.(Cys436Arg)	NC_000023.10:g.122799573A>G	(Likely) benign	1 lab	373522c876
4:6303878 WFS1 G>T	4	6303878	6303878	G	T	WFS1	c.2356G>T	NM_006005.3	NP_005996.2:p.(Gly786Cys)	NC_000004.11:g.6303878G>T	VUS	1 lab	37355a42fe
1:173793163 CENPL G>GA	1	173793163	173793177	G	GA	CENPL	c.-101-7dup	NM_001387287.1	NP_001374216.1:p.?	NC_000001.10:g.173793177dup	(Likely) benign	1 lab	3735f74332
8:125074092 FER1L6 G>A	8	125074092	125074092	G	A	FER1L6	c.3148-1G>A	NM_001039112.2	NP_001034201.2:p.?	NC_000008.10:g.125074092G>A	VUS	1 lab	37361e0d52
22:51113005 SHANK3 G>A	22	51113005	51113005	G	A	SHANK3	c.163G>A	NM_001372044.2	NP_001358973.1:p.(Ala55Thr)	NC_000022.10:g.51113005G>A	VUS	1 lab	37364278e0
9:139410162 NOTCH1 G>A	9	139410162	139410162	G	A	NOTCH1	c.1676C>T	NM_017617.5	NP_060087.3:p.(Thr559Met)	NC_000009.11:g.139410162G>A	(Likely) benign	1 lab	3736d7c531
4:187531023 FAT1 C>G	4	187531023	187531023	C	G	FAT1	c.10000G>C	NM_005245.4	NP_005236.2:p.(Val3334Leu)	NC_000004.11:g.187531023C>G	(Likely) benign	1 lab	3737503242
3:124456609 UMPS C>T	3	124456609	124456609	C	T	UMPS	c.505C>T	NM_000373.4	NP_000364.1:p.(Arg169Cys)	NC_000003.11:g.124456609C>T	VUS	1 lab	1d8d32f6d0
15:59564554 MYO1E T>C	15	59564554	59564554	T	C	MYO1E	c.98A>G	NM_004998.3	NP_004989.2:p.(Asn33Ser)	NC_000015.9:g.59564554T>C	(Likely) benign	1 lab	1e08d45ac2
13:35733174 NBEA G>A	13	35733174	35733174	G	A	NBEA	c.2866G>A	NM_001385012.1	NP_001371941.1:p.(Glu956Lys)	NC_000013.10:g.35733174G>A	(Likely) benign	1 lab	373aea5d3b
3:158261981 RSRC1 G>A	3	158261981	158261981	G	A	RSRC1	c.922G>A	NM_001271838.2	NP_001258767.1:p.(Glu308Lys)	NC_000003.11:g.158261981G>A	(Likely) benign	1 lab	373d0c3704
7:40132667 CDK13 T>G	7	40132667	40132667	T	G	CDK13	c.3519T>G	NM_003718.5	NP_003709.3:p.(Asp1173Glu)	NC_000007.13:g.40132667T>G	(Likely) benign	1 lab	373e60aa77
8:106813265 ZFPM2 GTC>G	8	106813265	106813272	GTC	G	ZFPM2	c.965-4_965-3del	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106813271_106813272del	(Likely) benign	1 lab	373eb00d76
7:99704982 AP4M1 T>C	7	99704982	99704982	T	C	AP4M1	c.*477T>C	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99704982T>C	VUS	1 lab	373f14a36b
15:89401422 ACAN C>CTGGGATGGTGGATGTCAGTGGACAGTTT	15	89401422	89401451	C	CTGGGATGGTGGATGTCAGTGGACAGTTT	ACAN	c.5608_5635dup	NM_001369268.1	NP_001356197.1:p.(Ser1879TrpfsTer34)	NC_000015.9:g.89401424_89401451dup	(Likely) pathogenic	1 lab	373f3382a0
11:107381618 ALKBH8 T>C	11	107381618	107381618	T	C	ALKBH8	c.1432A>G	NM_138775.3	NP_620130.2:p.(Thr478Ala)	NC_000011.9:g.107381618T>C	(Likely) benign	1 lab	373f729950
18:55359223 ATP8B1 C>A	18	55359223	55359223	C	A	ATP8B1	c.1036G>T	NM_001374385.1	NP_001361314.1:p.(Val346Phe)	NC_000018.9:g.55359223C>A	(Likely) benign	1 lab	37418bab50
X:85403731 DACH2 C>T	X	85403731	85403731	C	T	DACH2	c.107C>T	NM_053281.3	NP_444511.1:p.(Pro36Leu)	NC_000023.10:g.85403731C>T	(Likely) benign	1 lab	37434e5eca
X:53349930 IQSEC2 C>G	X	53349930	53349930	C	G	IQSEC2	c.392G>C	NM_001111125.3	NP_001104595.1:p.(Arg131Pro)	NC_000023.10:g.53349930C>G	(Likely) benign	1 lab	3743b5af02
2:209104710 IDH1 T>C	2	209104710	209104710	T	C	IDH1	c.868A>G	NM_005896.4	NP_005887.2:p.(Met290Val)	NC_000002.11:g.209104710T>C	VUS	1 lab	374504ec41
17:61466714 TANC2 A>G	17	61466714	61466714	A	G	TANC2	c.2860A>G	NM_001394998.1	NP_001381927.1:p.(Thr954Ala)	NC_000017.10:g.61466714A>G	VUS	1 lab	374586d684
16:46960903 GPT2 G>A	16	46960903	46960903	G	A	GPT2	c.1435G>A	NM_133443.4	NP_597700.1:p.(Val479Met)	NC_000016.9:g.46960903G>A	(Likely) pathogenic	1 lab	3747fd1728
13:23894757 SGCG C>CTTTTTTTTTTTTTT	13	23894757	23894760	C	CTTTTTTTTTTTTTT	SGCG	c.579-17_579-16insTTTTTTTTTTTTTT	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894759_23894760insTTTTTTTTTTTTTT	(Likely) benign	1 lab	374a0e092c
17:42152679 G6PC3 C>T	17	42152679	42152679	C	T	G6PC3	c.537C>T	NM_138387.4	NP_612396.1:p.(Gly179=)	NC_000017.10:g.42152679C>T	(Likely) benign	1 lab	1d9e50b380
1:53925307 DMRTB1 G>T	1	53925307	53925307	G	T	DMRTB1	c.181G>T	NM_033067.3	NP_149056.1:p.(Ala61Ser)	NC_000001.10:g.53925307G>T	(Likely) benign	1 lab	374cd0bf01
7:151978673 KMT2C T>C	7	151978673	151978673	T	C	KMT2C	c.850-7721A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151978673T>C	VUS	1 lab	37aba93f11
17:73494528 TMEM94 C>G	17	73494528	73494528	C	G	TMEM94	c.3642C>G	NM_014738.6	NP_055553.3:p.(Asn1214Lys)	NC_000017.10:g.73494528C>G	(Likely) benign	1 lab	374d2d22d7
2:27360983 PRR30 T>C	2	27360983	27360983	T	C	PRR30	c.215A>G	NM_178553.4	NP_848648.2:p.(Gln72Arg)	NC_000002.11:g.27360983T>C	VUS	1 lab	374dd88851
20:31292298 COMMD7 CAAA>C	20	31292298	31292313	CAAA	C	COMMD7	c.428-10_428-8del	NM_053041.3	NP_444269.2:p.?	NC_000020.10:g.31292311_31292313del	(Likely) benign	1 lab	3754b5fe8c
15:56387005 RFX7 C>T	15	56387005	56387005	C	T	RFX7	c.2921G>A	NM_022841.7	NP_073752.6:p.(Ser974Asn)	NC_000015.9:g.56387005C>T	VUS	1 lab	37567679d6
17:7752232 KDM6B G>A	17	7752232	7752232	G	A	KDM6B	c.2626G>A	NM_001348716.2	NP_001335645.1:p.(Gly876Arg)	NC_000017.10:g.7752232G>A	(Likely) benign	1 lab	375679124a
15:91548280 VPS33B C>T	15	91548280	91548280	C	T	VPS33B	c.1170+5G>A	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91548280C>T	VUS	1 lab	3756e13574
13:20608553 ZMYM2 C>T	13	20608553	20608553	C	T	ZMYM2	c.2119+9C>T	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20608553C>T	(Likely) benign	1 lab	37578fbeea
13:113979931 GRTP1 CG>C	13	113979931	113979935	CG	C	GRTP1	c.921+44del	NM_024719.4	NP_078995.2:p.?	NC_000013.10:g.113979935del	VUS	1 lab	3758e60b9a
19:47285707 SLC1A5 C>T	19	47285707	47285707	C	T	SLC1A5	c.757G>A	NM_005628.3	NP_005619.1:p.(Glu253Lys)	NC_000019.9:g.47285707C>T	VUS	1 lab	3759ad515a
17:36890780 CISD3 GAA>G	17	36890780	36890793	GAA	G	CISD3	c.*1084_*1085del	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36890792_36890793del	VUS	1 lab	375b88f69d
X:152937083 PNCK G>C	X	152937083	152937083	G	C	PNCK	c.459C>G	NM_001366977.1	NP_001353906.1:p.(Ile153Met)	NC_000023.10:g.152937083G>C	VUS	1 lab	375e9fb46c
15:41228855 DLL4 T>G	15	41228855	41228855	T	G	DLL4	c.1670T>G	NM_019074.4	NP_061947.1:p.(Leu557Arg)	NC_000015.9:g.41228855T>G	VUS	1 lab	3776224080
4:151271148 LRBA C>T	4	151271148	151271148	C	T	LRBA	c.7391G>A	NM_006726.4	NP_006717.2:p.(Arg2464Lys)	NC_000004.11:g.151271148C>T	VUS	1 lab	1d9fcf65c3
11:298592 IFITM5 A>AGCCCCAGGAGCAGCAGTGGCG	11	298592	298615	A	AGCCCCAGGAGCAGCAGTGGCG	IFITM5	c.287_307dup	NM_001025295.3	NP_001020466.1:p.(Pro96_Gly102dup)	NC_000011.9:g.298595_298615dup	VUS	1 lab	3764033de2
6:70966528 COL9A1 C>CA	6	70966528	70966535	C	CA	COL9A1	c.1450-5dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70966535dup	(Likely) benign	1 lab	37655524c1
1:151378291 POGZ G>A	1	151378291	151378291	G	A	POGZ	c.3220C>T	NM_015100.4	NP_055915.2:p.(Arg1074Cys)	NC_000001.10:g.151378291G>A	VUS	1 lab	37670835a1
3:4709214 ITPR1 C>A	3	4709214	4709214	C	A	ITPR1	c.1867C>A	NM_001378452.1	NP_001365381.1:p.(Arg623=)	NC_000003.11:g.4709214C>A	VUS	1 lab	3768814bb0
11:111747587 FDXACB1 C>T	11	111747587	111747587	C	T	FDXACB1	c.478G>A	NM_138378.3	NP_612387.1:p.(Asp160Asn)	NC_000011.9:g.111747587C>T	(Likely) benign	1 lab	37692806fd
19:44117841 SRRM5 G>T	19	44117841	44117841	G	T	SRRM5	c.1568G>T	NM_001145641.2	NP_001139113.1:p.(Arg523Leu)	NC_000019.9:g.44117841G>T	(Likely) benign	1 lab	3769a0324e
X:46845109 JADE3 C>T	X	46845109	46845109	C	T	JADE3	c.47-5C>T	NM_014735.5	NP_055550.1:p.?	NC_000023.10:g.46845109C>T	(Likely) benign	1 lab	3769f9bccc
8:110477066 PKHD1L1 C>T	8	110477066	110477066	C	T	PKHD1L1	c.8005C>T	NM_177531.6	NP_803875.2:p.(Gln2669Ter)	NC_000008.10:g.110477066C>T	(Likely) benign	1 lab	376d809a38
17:19578921 ALDH3A2 G>A	17	19578921	19578921	G	A	ALDH3A2	c.*36G>A	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19578921G>A	(Likely) benign	1 lab	376dbb96e4
19:42793472 CIC G>A	19	42793472	42793472	G	A	CIC	c.4001G>A	NM_001386298.1	NP_001373227.1:p.(Arg1334His)	NC_000019.9:g.42793472G>A	VUS	1 lab	376f60f29f
2:232121336 ARMC9 A>G	2	232121336	232121336	A	G	ARMC9	c.914+3A>G	NM_001352754.2	NP_001339683.2:p.?	NC_000002.11:g.232121336A>G	(Likely) benign	1 lab	376f7780f5
16:19620312 VPS35L A>G	16	19620312	19620312	A	G	VPS35L	c.898A>G	NM_020314.7	NP_064710.5:p.(Ile300Val)	NC_000016.9:g.19620312A>G	VUS	1 lab	3771515896
11:792590 SLC25A22 C>T	11	792590	792590	C	T	SLC25A22	c.550G>A	NM_001191060.1	NP_001177989.1:p.(Ala184Thr)	NC_000011.9:g.792590C>T	VUS	1 lab	1e0f93b641
18:28669445 DSC2 T>C	18	28669445	28669445	T	C	DSC2	c.587A>G	NM_004949.3	NP_004940.1:p.(Tyr196Cys)	NC_000018.9:g.28669445T>C	(Likely) pathogenic	1 lab	1e10c7cff7
1:176758992 PAPPA2 G>C	1	176758992	176758992	G	C	PAPPA2	c.4763G>C	NM_020318.3	NP_064714.2:p.(Gly1588Ala)	NC_000001.10:g.176758992G>C	(Likely) benign	1 lab	3778e6d8bd
12:116446921 MED13L G>A	12	116446921	116446921	G	A	MED13L	c.1297C>T	NM_015335.5	NP_056150.1:p.(Arg433Cys)	NC_000012.11:g.116446921G>A	(Likely) benign	1 lab	3779775bbf
22:41574488 EP300 A>T	22	41574488	41574488	A	T	EP300	c.6773A>T	NM_001429.4	NP_001420.2:p.(Gln2258Leu)	NC_000022.10:g.41574488A>T	(Likely) benign	1 lab	377cfe2672
14:64519144 SYNE2 A>AT	14	64519144	64519151	A	AT	SYNE2	c.8520dup	NM_182914.3	NP_878918.2:p.(Ala2841CysfsTer14)	NC_000014.8:g.64519151dup	VUS	1 lab	1da04fb95e
15:48518762 SLC12A1 C>T	15	48518762	48518762	C	T	SLC12A1	c.718C>T	NM_000338.3	NP_000329.2:p.(Arg240Cys)	NC_000015.9:g.48518762C>T	VUS	1 lab	377d9f6e34
X:71379810 MISSING C>T	X	71379810	71379810	C	T	MISSING				NC_000023.10:g.71379810C>T	(Likely) benign	1 lab	377fef0bd1
8:116632015 TRPS1 G>A	8	116632015	116632015	G	A	TRPS1	c.310C>T	NM_014112.5	NP_054831.2:p.(Pro104Ser)	NC_000008.10:g.116632015G>A	(Likely) benign	1 lab	37823e9820
22:33780242 LARGE1 T>A	22	33780242	33780242	T	A	LARGE1	c.941A>T	NM_133642.5	NP_598397.1:p.(Gln314Leu)	NC_000022.10:g.33780242T>A	VUS	1 lab	37835db545
7:132169766 PLXNA4 C>T	7	132169766	132169766	C	T	PLXNA4	c.1371+4285G>A	NM_020911.2	NP_065962.1:p.?	NC_000007.13:g.132169766C>T	VUS	1 lab	378464e84c
18:46623883 DYM C>G	18	46623883	46623883	C	G	DYM	c.1914G>C	NM_001353214.3	NP_001340143.1:p.(Val638=)	NC_000018.9:g.46623883C>G	(Likely) benign	1 lab	37854da41c
18:5291699 ZBTB14 C>T	18	5291699	5291699	C	T	ZBTB14	c.508G>A	NM_001243702.2	NP_001230631.1:p.(Asp170Asn)	NC_000018.9:g.5291699C>T	VUS	1 lab	378566bad0
3:151083727 MED12L G>T	3	151083727	151083727	G	T	MED12L	c.3275G>T	NM_001393769.1	NP_001380698.1:p.(Cys1092Phe)	NC_000003.11:g.151083727G>T	VUS	1 lab	3788cfe610
15:89398593 ACAN T>A	15	89398593	89398593	T	A	ACAN	c.2777T>A	NM_001369268.1	NP_001356197.1:p.(Ile926Asn)	NC_000015.9:g.89398593T>A	VUS	1 lab	3788fe3cec
16:88808507 PIEZO1 C>T	16	88808507	88808507	C	T	PIEZO1	c.284-4G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88808507C>T	(Likely) benign	1 lab	378a7d05b5
12:6702776 CHD4 A>C	12	6702776	6702776	A	C	CHD4	c.2320T>G	NM_001273.5	NP_001264.2:p.(Ser774Ala)	NC_000012.11:g.6702776A>C	VUS	1 lab	378ac55449
19:39010024 RYR1 G>A	19	39010024	39010024	G	A	RYR1	c.10189G>A	NM_000540.3	NP_000531.2:p.(Glu3397Lys)	NC_000019.9:g.39010024G>A	VUS	1 lab	378c211d61
4:100480417 TRMT10A C>A	4	100480417	100480417	C	A	TRMT10A	c.79G>T	NM_001134665.3	NP_001128137.1:p.(Glu27Ter)	NC_000004.11:g.100480417C>A	(Likely) pathogenic	1 lab	378dbed381
22:17684504 ADA2 C>T	22	17684504	17684504	C	T	ADA2	c.702G>A	NM_001282225.2	NP_001269154.1:p.(Glu234=)	NC_000022.10:g.17684504C>T	(Likely) benign	1 lab	1e149be1cb
X:153880654 CTAG2 T>C	X	153880654	153880654	T	C	CTAG2	c.405-113A>G	NM_172377.5	NP_758965.2:p.?	NC_000023.10:g.153880654T>C	(Likely) benign	1 lab	378ef93184
7:128477687 FLNC G>C	7	128477687	128477687	G	C	FLNC	c.851-4G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477687G>C	(Likely) benign	1 lab	37911aee13
2:112751928 MERTK G>A	2	112751928	112751928	G	A	MERTK	c.1397G>A	NM_006343.3	NP_006334.2:p.(Arg466Lys)	NC_000002.11:g.112751928G>A	(Likely) benign	1 lab	1da21b6c5f
14:51239666 NIN C>G	14	51239666	51239666	C	G	NIN	c.813+1G>C	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51239666C>G	VUS	1 lab	3794c07e40
10:50018706 WDFY4 G>A	10	50018706	50018706	G	A	WDFY4	c.4970G>A	NM_001394531.1	NP_001381460.1:p.(Arg1657His)	NC_000010.10:g.50018706G>A	(Likely) benign	1 lab	379556206c
19:10274003 DNMT1 G>C	19	10274003	10274003	G	C	DNMT1	c.925C>G	NM_001130823.3	NP_001124295.1:p.(Leu309Val)	NC_000019.9:g.10274003G>C	(Likely) benign	1 lab	3795967d4a
2:69553375 GFPT1 G>GA	2	69553375	69553388	G	GA	GFPT1	c.2056-11dup	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553388dup	(Likely) benign	1 lab	3795c9e863
14:96797867 ATG2B G>C	14	96797867	96797867	G	C	ATG2B	c.1576C>G	NM_018036.7	NP_060506.6:p.(Pro526Ala)	NC_000014.8:g.96797867G>C	(Likely) benign	1 lab	37964b6cd6
17:1538749 SCARF1 G>A	17	1538749	1538749	G	A	SCARF1	c.1796C>T	NM_003693.4	NP_003684.2:p.(Ala599Val)	NC_000017.10:g.1538749G>A	(Likely) benign	1 lab	37974a18f8
7:155604780 SHH C>T	7	155604780	155604780	C	T	SHH	c.37G>A	NM_000193.4	NP_000184.1:p.(Val13Ile)	NC_000007.13:g.155604780C>T	VUS	1 lab	37977cabc5
11:108201120 ATM GAGTTTCTGA>G	11	108201120	108201132	GAGTTTCTGA	G	ATM	c.7491_7499del	NM_000051.4	NP_000042.3:p.(Ser2498_Val2500del)	NC_000011.9:g.108201124_108201132del	VUS	1 lab	3797b87d40
16:775136 CCDC78 C>A	16	775136	775136	C	A	CCDC78	c.502G>T	NM_001378030.1	NP_001364959.1:p.(Glu168Ter)	NC_000016.9:g.775136C>A	VUS	1 lab	3797f5b5d3
4:17503353 QDPR T>C	4	17503353	17503353	T	C	QDPR	c.425A>G	NM_000320.3	NP_000311.2:p.(Asp142Gly)	NC_000004.11:g.17503353T>C	VUS	1 lab	379825df42
10:70225425 DNA2 T>A	10	70225425	70225425	T	A	DNA2	c.586A>T	NM_001080449.3	NP_001073918.2:p.(Met196Leu)	NC_000010.10:g.70225425T>A	(Likely) benign	1 lab	379b55b6db
3:195975087 PCYT1A T>C	3	195975087	195975087	T	C	PCYT1A	c.325A>G	NM_001312673.2	NP_001299602.1:p.(Ile109Val)	NC_000003.11:g.195975087T>C	VUS	1 lab	379b7d2b48
1:27023144 ARID1A GGCGGCGGCGGAGCCGGCA>G	1	27023144	27023172	GGCGGCGGCGGAGCCGGCA	G	ARID1A	c.261_278del	NM_006015.6	NP_006006.3:p.(Ala88_Gly93del)	NC_000001.10:g.27023155_27023172del	(Likely) benign	1 lab	379d309cb1
5:171849491 SH3PXD2B T>C	5	171849491	171849491	T	C	SH3PXD2B	c.85A>G	NM_001017995.3	NP_001017995.1:p.(Ile29Val)	NC_000005.9:g.171849491T>C	VUS	1 lab	379d8701ad
9:98775235 ERCC6L2 T>C	9	98775235	98775235	T	C	ERCC6L2	c.4403T>C	NM_020207.7	NP_064592.3:p.(Met1468Thr)	NC_000009.11:g.98775235T>C	(Likely) benign	1 lab	379e1a4a67
21:43166771 RIPK4 A>G	21	43166771	43166771	A	G	RIPK4	c.832+2T>C	NM_020639.3	NP_065690.2:p.?	NC_000021.8:g.43166771A>G	(Likely) benign	1 lab	379ea97d49
19:40761140 AKT2 T>C	19	40761140	40761140	T	C	AKT2	c.212A>G	NM_001626.6	NP_001617.1:p.(Asn71Ser)	NC_000019.9:g.40761140T>C	(Likely) benign	1 lab	379ec45863
11:118376102 KMT2A A>C	11	118376102	118376102	A	C	KMT2A	c.9495A>C	NM_001197104.2	NP_001184033.1:p.(Leu3165Phe)	NC_000011.9:g.118376102A>C	VUS	1 lab	37a0043cf8
19:38994906 RYR1 C>T	19	38994906	38994906	C	T	RYR1	c.7973C>T	NM_000540.3	NP_000531.2:p.(Pro2658Leu)	NC_000019.9:g.38994906C>T	VUS	1 lab	37a13f9e2f
1:173744765 KLHL20 C>T	1	173744765	173744765	C	T	KLHL20	c.1430-8C>T	NM_014458.4	NP_055273.2:p.?	NC_000001.10:g.173744765C>T	(Likely) benign	1 lab	37a28e0bed
17:33482488 UNC45B G>GA	17	33482488	33482491	G	GA	UNC45B	c.808+8dup	NM_001267052.2	NP_001253981.1:p.?	NC_000017.10:g.33482491dup	(Likely) benign	1 lab	37a3b67f3a
16:2812858 SRRM2 C>T	16	2812858	2812858	C	T	SRRM2	c.2329C>T	NM_016333.4	NP_057417.3:p.(Arg777Cys)	NC_000016.9:g.2812858C>T	VUS	1 lab	37a4d8eaa1
16:88871951 CDT1 C>T	16	88871951	88871951	C	T	CDT1	c.592C>T	NM_030928.4	NP_112190.2:p.(Arg198Cys)	NC_000016.9:g.88871951C>T	VUS	1 lab	37a9198eae
4:15005457 CPEB2 C>T	4	15005457	15005457	C	T	CPEB2	c.1160C>T	NM_001177382.2	NP_001170853.1:p.(Thr387Ile)	NC_000004.11:g.15005457C>T	VUS	1 lab	37a939f171
17:29553534 NF1 CTG>C	17	29553534	29553538	CTG	C	NF1	c.2086_2087del	NM_000267.3	NP_000258.1:p.(Trp696GlufsTer3)	NC_000017.10:g.29553537_29553538del	(Likely) pathogenic	1 lab	1da37dd341
12:121438873 HNF1A T>C	12	121438873	121438873	T	C	HNF1A	c.1774T>C	NM_000545.8	NP_000536.6:p.(Ser592Pro)	NC_000012.11:g.121438873T>C	VUS	1 lab	37a9f12ff5
X:18938161 PHKA2 G>T	X	18938161	18938161	G	T	PHKA2	c.1952C>A	NM_000292.3	NP_000283.1:p.(Thr651Asn)	NC_000023.10:g.18938161G>T	VUS	1 lab	37aa07554a
3:64536562 ADAMTS9 C>T	3	64536562	64536562	C	T	ADAMTS9	c.4869+6G>A	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64536562C>T	(Likely) benign	1 lab	37aa3b48d5
X:100169419 XKRX G>T	X	100169419	100169419	G	T	XKRX	c.1258C>A	NM_212559.3	NP_997724.2:p.(Leu420Ile)	NC_000023.10:g.100169419G>T	VUS	1 lab	37abd33edf
8:43025816 HGSNAT G>A	8	43025816	43025816	G	A	HGSNAT	c.722G>A	NM_152419.3	NP_689632.2:p.(Arg241His)	NC_000008.10:g.43025816G>A	VUS	1 lab	37ac9272ae
9:133748331 ABL1 A>T	9	133748331	133748331	A	T	ABL1	c.992A>T	NM_005157.6	NP_005148.2:p.(Asn331Ile)	NC_000009.11:g.133748331A>T	VUS	1 lab	37acead70a
12:2792018 CACNA1C C>T	12	2792018	2792018	C	T	CACNA1C	c.5573+174C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2792018C>T	(Likely) benign	1 lab	37ad5b4ec6
1:40756676 ZMPSTE24 T>C	1	40756676	40756676	T	C	ZMPSTE24	c.1203+7T>C	NM_005857.5	NP_005848.2:p.?	NC_000001.10:g.40756676T>C	(Likely) benign	1 lab	37ae417b30
2:25965142 ASXL2 C>T	2	25965142	25965142	C	T	ASXL2	c.4064G>A	NM_018263.6	NP_060733.4:p.(Gly1355Asp)	NC_000002.11:g.25965142C>T	VUS	1 lab	37af2b986c
20:30897726 KIF3B C>T	20	30897726	30897726	C	T	KIF3B	c.146C>T	NM_004798.4	NP_004789.1:p.(Thr49Met)	NC_000020.10:g.30897726C>T	(Likely) benign	1 lab	37afd45c52
2:179640962 TTN T>C	2	179640962	179640962	T	C	TTN	c.5629A>G	NM_001267550.2	NP_001254479.2:p.(Asn1877Asp)	NC_000002.11:g.179640962T>C	VUS	1 lab	37b08a602e
1:202702546 KDM5B C>T	1	202702546	202702546	C	T	KDM5B	c.3892G>A	NM_006618.5	NP_006609.3:p.(Val1298Met)	NC_000001.10:g.202702546C>T	(Likely) benign	1 lab	37b128813a
1:109794253 CELSR2 G>A	1	109794253	109794253	G	A	CELSR2	c.1552G>A	NM_001408.3	NP_001399.1:p.(Val518Ile)	NC_000001.10:g.109794253G>A	VUS	1 lab	37b146c681
8:62550925 ASPH A>G	8	62550925	62550925	A	G	ASPH	c.791-3T>C	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62550925A>G	(Likely) benign	1 lab	37b20b93f1
19:10252817 DNMT1 C>T	19	10252817	10252817	C	T	DNMT1	c.3196G>A	NM_001130823.3	NP_001124295.1:p.(Val1066Met)	NC_000019.9:g.10252817C>T	VUS	1 lab	1daa1a7017
8:117864257 RAD21 G>A	8	117864257	117864257	G	A	RAD21	c.1400C>T	NM_006265.3	NP_006256.1:p.(Ala467Val)	NC_000008.10:g.117864257G>A	(Likely) benign	1 lab	37b2600c85
3:9975003 IL17RC T>C	3	9975003	9975003	T	C	IL17RC	c.2102T>C	NM_153461.4	NP_703191.2:p.(Val701Ala)	NC_000003.11:g.9975003T>C	VUS	1 lab	1dae806fa0
6:50805809 TFAP2B A>T	6	50805809	50805809	A	T	TFAP2B	c.940+3A>T	NM_003221.4	NP_003212.2:p.?	NC_000006.11:g.50805809A>T	VUS	1 lab	37b2e1b4db
19:15276337 NOTCH3 G>A	19	15276337	15276337	G	A	NOTCH3	c.5668-11C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15276337G>A	(Likely) benign	1 lab	37b35e66d7
2:220288540 DES G>A	2	220288540	220288540	G	A	DES	c.1286G>A	NM_001927.3	NP_001918.3:p.(Arg429Gln)	NC_000002.11:g.220288540G>A	VUS	1 lab	1e178ed5ae
21:41459157 DSCAM A>G	21	41459157	41459157	A	G	DSCAM	c.3908T>C	NM_001389.5	NP_001380.2:p.(Ile1303Thr)	NC_000021.8:g.41459157A>G	VUS	1 lab	37b5a465d3
9:86585084 HNRNPK G>A	9	86585084	86585084	G	A	HNRNPK	c.1354C>T	NM_031263.4	NP_112553.1:p.(Gln452Ter)	NC_000009.11:g.86585084G>A	VUS	1 lab	37b64a2e18
9:133761001 ABL1 A>G	9	133761001	133761001	A	G	ABL1	c.3381A>G	NM_007313.2	NP_009297.2:p.(Pro1127=)	NC_000009.11:g.133761001A>G	(Likely) benign	1 lab	1daea24b69
21:46875894 COL18A1 C>G	21	46875894	46875894	C	G	COL18A1	c.107-12262C>G	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875894C>G	VUS	1 lab	37b860c7c0
12:6128821 VWF TG>T	12	6128821	6128825	TG	T	VWF	c.3762del	NM_000552.5	NP_000543.3:p.(Thr1255ProfsTer42)	NC_000012.11:g.6128825del	VUS	1 lab	37b9378adf
1:38227278 EPHA10 C>G	1	38227278	38227278	C	G	EPHA10	c.649G>C	NM_001099439.2	NP_001092909.1:p.(Gly217Arg)	NC_000001.10:g.38227278C>G	(Likely) benign	1 lab	37bac5e022
12:99102475 APAF1 G>T	12	99102475	99102475	G	T	APAF1	c.2834G>T	NM_181861.2	NP_863651.1:p.(Arg945Leu)	NC_000012.11:g.99102475G>T	VUS	1 lab	37bb470c56
16:87717806 JPH3 G>A	16	87717806	87717806	G	A	JPH3	c.1219G>A	NM_020655.4	NP_065706.2:p.(Glu407Lys)	NC_000016.9:g.87717806G>A	(Likely) benign	1 lab	37bbdf1853
17:61554493 ACE T>TGCTGCC	17	61554493	61554510	T	TGCTGCC	ACE	c.50_55dup	NM_000789.4	NP_000780.1:p.(Pro17_Leu18dup)	NC_000017.10:g.61554505_61554510dup	VUS	1 lab	37bbee30ca
21:47422614 COL6A1 G>T	21	47422614	47422614	G	T	COL6A1	c.2424G>T	NM_001848.3	NP_001839.2:p.(Gln808His)	NC_000021.8:g.47422614G>T	(Likely) benign	1 lab	37bd0aad45
2:113514563 CKAP2L A>G	2	113514563	113514563	A	G	CKAP2L	c.385T>C	NM_152515.5	NP_689728.3:p.(Ser129Pro)	NC_000002.11:g.113514563A>G	(Likely) benign	1 lab	37bd0d2d74
X:50037948 CCNB3 C>T	X	50037948	50037948	C	T	CCNB3	c.290C>T	NM_033031.3	NP_149020.2:p.(Thr97Ile)	NC_000023.10:g.50037948C>T	(Likely) benign	1 lab	37bd4e14dd
1:160320036 NCSTN A>G	1	160320036	160320036	A	G	NCSTN	c.578A>G	NM_015331.3	NP_056146.1:p.(Lys193Arg)	NC_000001.10:g.160320036A>G	(Likely) benign	1 lab	1db4455b54
17:40630503 ATP6V0A1 C>T	17	40630503	40630503	C	T	ATP6V0A1	c.529C>T	NM_001130021.3	NP_001123493.1:p.(Arg177Trp)	NC_000017.10:g.40630503C>T	VUS	1 lab	37c06a7a46
17:18144829 LLGL1 G>A	17	18144829	18144829	G	A	LLGL1	c.2567G>A	NM_004140.4	NP_004131.4:p.(Arg856His)	NC_000017.10:g.18144829G>A	VUS	1 lab	37c0b35e4c
X:153129785 L1CAM T>C	X	153129785	153129785	T	C	L1CAM	c.3314A>G	NM_001278116.2	NP_001265045.1:p.(Asn1105Ser)	NC_000023.10:g.153129785T>C	VUS	1 lab	37c13e2c31
5:176025700 GPRIN1 G>T	5	176025700	176025700	G	T	GPRIN1	c.1136C>A	NM_052899.3	NP_443131.2:p.(Pro379His)	NC_000005.9:g.176025700G>T	(Likely) benign	1 lab	37c4d77f12
22:32164807 DEPDC5 C>T	22	32164807	32164807	C	T	DEPDC5	c.371C>T	NM_001242896.3	NP_001229825.1:p.(Thr124Ile)	NC_000022.10:g.32164807C>T	VUS	1 lab	37c50ab674
12:89995096 ATP2B1 T>G	12	89995096	89995096	T	G	ATP2B1	c.3168+7A>C	NM_001366521.1	NP_001353450.1:p.?	NC_000012.11:g.89995096T>G	(Likely) benign	1 lab	37c54fe197
17:39975584 FKBP10 G>A	17	39975584	39975584	G	A	FKBP10	c.850G>A	NM_021939.4	NP_068758.3:p.(Gly284Arg)	NC_000017.10:g.39975584G>A	(Likely) benign	1 lab	37c5f52d38
2:216262556 FN1 T>G	2	216262556	216262556	T	G	FN1	c.3364A>C	NM_212482.4	NP_997647.2:p.(Ser1122Arg)	NC_000002.11:g.216262556T>G	(Likely) benign	1 lab	37c63eb1f0
19:13410045 CACNA1A T>C	19	13410045	13410045	T	C	CACNA1A	c.2402A>G	NM_001127222.2	NP_001120694.1:p.(Glu801Gly)	NC_000019.9:g.13410045T>C	VUS	1 lab	37c98fd168
4:83803016 SEC31A G>A	4	83803016	83803016	G	A	SEC31A	c.74C>T	NM_001077207.4	NP_001070675.1:p.(Ala25Val)	NC_000004.11:g.83803016G>A	VUS	1 lab	37cb22df34
13:32915320 BRCA2 CCTTAT>C	13	32915320	32915329	CCTTAT	C	BRCA2	c.6833_6837del	NM_000059.4	NP_000050.3:p.(Ile2278SerfsTer13)	NC_000013.10:g.32915325_32915329del	(Likely) pathogenic	1 lab	37cede1e31
12:78530986 NAV3 C>A	12	78530986	78530986	C	A	NAV3	c.4471C>A	NM_001024383.2	NP_001019554.1:p.(Leu1491Ile)	NC_000012.11:g.78530986C>A	(Likely) benign	1 lab	37cf8a1ec1
10:127462412 MMP21 C>G	10	127462412	127462412	C	G	MMP21	c.685G>C	NM_147191.1	NP_671724.1:p.(Gly229Arg)	NC_000010.10:g.127462412C>G	VUS	1 lab	37cfdf38ff
X:151303743 MAGEA10 G>T	X	151303743	151303743	G	T	MAGEA10	c.350C>A	NM_021048.5	NP_066386.3:p.(Pro117Gln)	NC_000023.10:g.151303743G>T	(Likely) benign	1 lab	37d0065983
1:248756387 OR2T10 A>G	1	248756387	248756387	A	G	OR2T10	c.683T>C	NM_001004693.2	NP_001004693.1:p.(Met228Thr)	NC_000001.10:g.248756387A>G	VUS	1 lab	37d01a2a0c
7:33312688 BBS9 C>T	7	33312688	33312688	C	T	BBS9	c.767C>T	NM_198428.3	NP_940820.1:p.(Ser256Leu)	NC_000007.13:g.33312688C>T	VUS	1 lab	37d032f9b3
1:197071069 ASPM G>C	1	197071069	197071069	G	C	ASPM	c.7312C>G	NM_018136.5	NP_060606.3:p.(Gln2438Glu)	NC_000001.10:g.197071069G>C	VUS	1 lab	37d0acbfd9
2:216300512 FN1 G>C	2	216300512	216300512	G	C	FN1	c.14C>G	NM_212482.4	NP_997647.2:p.(Pro5Arg)	NC_000002.11:g.216300512G>C	VUS	1 lab	37e27e6768
12:56580691 SMARCC2 C>T	12	56580691	56580691	C	T	SMARCC2	c.231+280G>A	NM_001330288.2	NP_001317217.1:p.?	NC_000012.11:g.56580691C>T	(Likely) benign	1 lab	37d12e3d9c
2:1653004 PXDN C>T	2	1653004	1653004	C	T	PXDN	c.2548G>A	NM_012293.3	NP_036425.1:p.(Val850Met)	NC_000002.11:g.1653004C>T	VUS	1 lab	37d40d5c71
4:170354729 NEK1 C>T	4	170354729	170354729	C	T	NEK1	c.2852G>A	NM_001199397.3	NP_001186326.1:p.(Trp951Ter)	NC_000004.11:g.170354729C>T	(Likely) pathogenic	1 lab	37d6022d06
19:15273271 NOTCH3 C>A	19	15273271	15273271	C	A	NOTCH3	c.5913+5G>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15273271C>A	VUS	1 lab	37d62cf47b
1:156104616 LMNA C>T	1	156104616	156104616	C	T	LMNA	c.660C>T	NM_170707.4	NP_733821.1:p.(Arg220=)	NC_000001.10:g.156104616C>T	(Likely) benign	1 lab	37d7366800
5:68677872 RAD17 A>T	5	68677872	68677872	A	T	RAD17	c.496A>T	NM_133338.3	NP_579916.1:p.(Met166Leu)	NC_000005.9:g.68677872A>T	(Likely) benign	1 lab	37d9549f72
9:304652 DOCK8 C>T	9	304652	304652	C	T	DOCK8	c.476C>T	NM_203447.4	NP_982272.2:p.(Pro159Leu)	NC_000009.11:g.304652C>T	VUS	1 lab	3af8a571d9
12:2681522 CACNA1C C>CT	12	2681522	2681523	C	CT	CACNA1C	c.1895+4563dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2681523dup	(Likely) benign	1 lab	37db0c59f8
15:84908636 GOLGA6L4 G>A	15	84908636	84908636	G	A	GOLGA6L4	c.530G>A	NM_001267536.3	NP_001254465.2:p.(Gly177Glu)	NC_000015.9:g.84908636G>A	VUS	1 lab	37dca2fe09
6:35201024 SCUBE3 C>T	6	35201024	35201024	C	T	SCUBE3	c.658C>T	NM_152753.4	NP_689966.2:p.(Arg220Trp)	NC_000006.11:g.35201024C>T	VUS	1 lab	37de22981d
22:51133254 SHANK3 C>T	22	51133254	51133254	C	T	SHANK3	c.1307C>T	NM_001372044.2	NP_001358973.1:p.(Pro436Leu)	NC_000022.10:g.51133254C>T	VUS	1 lab	37df2fa271
6:51513909 PKHD1 G>T	6	51513909	51513909	G	T	PKHD1	c.11284C>A	NM_138694.4	NP_619639.3:p.(Pro3762Thr)	NC_000006.11:g.51513909G>T	(Likely) pathogenic	1 lab	37e0cbf704
22:41553320 EP300 C>T	22	41553320	41553320	C	T	EP300	c.3409C>T	NM_001429.4	NP_001420.2:p.(Arg1137Trp)	NC_000022.10:g.41553320C>T	VUS	1 lab	37e102aead
20:31622681 BPIFB6 G>A	20	31622681	31622681	G	A	BPIFB6	c.415G>A	NM_174897.2	NP_777557.1:p.(Val139Ile)	NC_000020.10:g.31622681G>A	(Likely) benign	1 lab	37e1cededa
13:32929234 BRCA2 AT>A	13	32929234	32929238	AT	A	BRCA2	c.7248del	NM_000059.4	NP_000050.3:p.(His2417ThrfsTer50)	NC_000013.10:g.32929238del	(Likely) pathogenic	1 lab	1db487f786
16:29816161 KIF22 TGAG>T	16	29816161	29816167	TGAG	T	KIF22	c.1708_1710del	NM_007317.3	NP_015556.1:p.(Glu570del)	NC_000016.9:g.29816165_29816167del	(Likely) benign	1 lab	37e3e8d5b7
18:46623780 DYM T>C	18	46623780	46623780	T	C	DYM	c.2017A>G	NM_001353214.3	NP_001340143.1:p.(Arg673Gly)	NC_000018.9:g.46623780T>C	VUS	1 lab	37e448d7c7
2:152422325 NEB T>C	2	152422325	152422325	T	C	NEB	c.18166A>G	NM_001164508.2	NP_001157980.2:p.(Arg6056Gly)	NC_000002.11:g.152422325T>C	VUS	1 lab	37e4c09156
19:15299099 NOTCH3 T>C	19	15299099	15299099	T	C	NOTCH3	c.1439A>G	NM_000435.3	NP_000426.2:p.(Asn480Ser)	NC_000019.9:g.15299099T>C	VUS	1 lab	37e79ad713
2:219920346 IHH G>A	2	219920346	219920346	G	A	IHH	c.819C>T	NM_002181.4	NP_002172.2:p.(Pro273=)	NC_000002.11:g.219920346G>A	(Likely) benign	1 lab	37e99e6bf4
10:79745704 POLR3A G>T	10	79745704	79745704	G	T	POLR3A	c.3028C>A	NM_007055.4	NP_008986.2:p.(Gln1010Lys)	NC_000010.10:g.79745704G>T	VUS	1 lab	37e9d37e7c
7:6026895 PMS2 CG>C	7	6026895	6026897	CG	C	PMS2	c.1500del	NM_000535.7	NP_000526.2:p.(Val501TrpfsTer94)	NC_000007.13:g.6026897del	(Likely) pathogenic	1 lab	37eb83713f
18:48593384 SMAD4 C>G	18	48593384	48593384	C	G	SMAD4	c.1140-5C>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48593384C>G	VUS	1 lab	37ed432e13
12:133253219 POLE A>G	12	133253219	133253219	A	G	POLE	c.822T>C	NM_006231.4	NP_006222.2:p.(Phe274=)	NC_000012.11:g.133253219A>G	VUS	1 lab	37eef7c69f
X:20222226 RPS6KA3 A>G	X	20222226	20222226	A	G	RPS6KA3	c.244-5T>C	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20222226A>G	(Likely) benign	1 lab	37f224ec0d
8:27637758 ESCO2 A>T	8	27637758	27637758	A	T	ESCO2	c.929A>T	NM_001017420.3	NP_001017420.1:p.(Glu310Val)	NC_000008.10:g.27637758A>T	(Likely) benign	1 lab	37f2347096
12:106770184 POLR3B C>T	12	106770184	106770184	C	T	POLR3B	c.452C>T	NM_018082.6	NP_060552.4:p.(Thr151Met)	NC_000012.11:g.106770184C>T	VUS	1 lab	37f428ad39
6:43325465 ZNF318 G>A	6	43325465	43325465	G	A	ZNF318	c.587C>T	NM_014345.3	NP_055160.2:p.(Ser196Phe)	NC_000006.11:g.43325465G>A	VUS	1 lab	37f4802c88
18:20570988 RBBP8 C>A	18	20570988	20570988	C	A	RBBP8	c.896C>A	NM_002894.3	NP_002885.1:p.(Thr299Lys)	NC_000018.9:g.20570988C>A	VUS	1 lab	37f54c1970
7:1477993 MICALL2 GAGA>G	7	1477993	1477998	GAGA	G	MICALL2	c.2123-7_2123-5del	NM_182924.4	NP_891554.1:p.?	NC_000007.13:g.1477996_1477998del	VUS	1 lab	37fd66373c
15:89383330 ACAN T>A	15	89383330	89383330	T	A	ACAN	c.542T>A	NM_001369268.1	NP_001356197.1:p.(Ile181Asn)	NC_000015.9:g.89383330T>A	VUS	1 lab	37fdea68ee
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	37f7d5c529
19:3981380 EEF2 A>G	19	3981380	3981380	A	G	EEF2	c.968T>C	NM_001961.4	NP_001952.1:p.(Leu323Pro)	NC_000019.9:g.3981380A>G	VUS	1 lab	37f877b520
5:126674869 MEGF10 G>A	5	126674869	126674869	G	A	MEGF10	c.174G>A	NM_001256545.2	NP_001243474.1:p.(Thr58=)	NC_000005.9:g.126674869G>A	(Likely) benign	1 lab	37f8dda204
19:8201158 FBN3 C>T	19	8201158	8201158	C	T	FBN3	c.1381G>A	NM_032447.5	NP_115823.3:p.(Gly461Ser)	NC_000019.9:g.8201158C>T	VUS	1 lab	37f8ed8364
10:94410233 KIF11 G>A	10	94410233	94410233	G	A	KIF11	c.2998G>A	NM_004523.4	NP_004514.2:p.(Gly1000Ser)	NC_000010.10:g.94410233G>A	VUS	1 lab	37f97c9ac7
3:195516052 MUC4 G>A	3	195516052	195516052	G	A	MUC4	c.2399C>T	NM_018406.7	NP_060876.5:p.(Ala800Val)	NC_000003.11:g.195516052G>A	VUS	1 lab	37f9b15f58
2:31606682 XDH A>G	2	31606682	31606682	A	G	XDH	c.825T>C	NM_000379.4	NP_000370.2:p.(Phe275=)	NC_000002.11:g.31606682A>G	(Likely) benign	1 lab	1e1a874ede
11:1432847 BRSK2 G>GCAGCC	11	1432847	1432861	G	GCAGCC	BRSK2	c.91+21252_91+21256dup	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1432857_1432861dup	VUS	1 lab	37fbcbcd7c
6:43005551 CUL7 C>T	6	43005551	43005551	C	T	CUL7	c.4972G>A	NM_014780.5	NP_055595.2:p.(Glu1658Lys)	NC_000006.11:g.43005551C>T	VUS	1 lab	37fc04c8bb
18:33738791 ELP2 A>G	18	33738791	33738791	A	G	ELP2	c.1465-7A>G	NM_018255.4	NP_060725.1:p.?	NC_000018.9:g.33738791A>G	VUS	1 lab	37fd1b7470
20:60921797 LAMA5 G>A	20	60921797	60921797	G	A	LAMA5	c.1132C>T	NM_005560.6	NP_005551.3:p.(Arg378Cys)	NC_000020.10:g.60921797G>A	VUS	1 lab	37fd29c703
16:88789305 PIEZO1 G>C	16	88789305	88789305	G	C	PIEZO1	c.4608C>G	NM_001142864.4	NP_001136336.2:p.(His1536Gln)	NC_000016.9:g.88789305G>C	VUS	1 lab	37ff6a21cc
2:48059495 FBXO11 T>A	2	48059495	48059495	T	A	FBXO11	c.1391A>T	NM_001190274.2	NP_001177203.1:p.(His464Leu)	NC_000002.11:g.48059495T>A	VUS	1 lab	38005d5fbe
11:44135767 EXT2 G>A	11	44135767	44135767	G	A	EXT2	c.659G>A	NM_207122.2	NP_997005.1:p.(Trp220Ter)	NC_000011.9:g.44135767G>A	(Likely) pathogenic	1 lab	3800abc524
17:39577809 KRT37 C>T	17	39577809	39577809	C	T	KRT37	c.1051G>A	NM_003770.5	NP_003761.3:p.(Ala351Thr)	NC_000017.10:g.39577809C>T	VUS	1 lab	380143b803
4:6302669 WFS1 C>A	4	6302669	6302669	C	A	WFS1	c.1147C>A	NM_006005.3	NP_005996.2:p.(Arg383Ser)	NC_000004.11:g.6302669C>A	VUS	1 lab	3801dcbce0
18:31319947 ASXL3 T>A	18	31319947	31319947	T	A	ASXL3	c.2579T>A	NM_030632.3	NP_085135.1:p.(Met860Lys)	NC_000018.9:g.31319947T>A	(Likely) benign	1 lab	3802ea4bac
2:152499144 NEB G>A	2	152499144	152499144	G	A	NEB	c.8317C>T	NM_001164508.2	NP_001157980.2:p.(Arg2773Trp)	NC_000002.11:g.152499144G>A	VUS	1 lab	380347f034
6:108197874 SEC63 C>CAAAA	6	108197874	108197893	C	CAAAA	SEC63	c.1936-12_1936-9dup	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108197890_108197893dup	(Likely) benign	1 lab	3803e5a54e
2:128186310 PROC G>A	2	128186310	128186310	G	A	PROC	c.1174G>A	NM_000312.4	NP_000303.1:p.(Gly392Arg)	NC_000002.11:g.128186310G>A	VUS	1 lab	3803fb44f8
14:103405967 CDC42BPB C>A	14	103405967	103405967	C	A	CDC42BPB	c.4807G>T	NM_006035.4	NP_006026.3:p.(Val1603Leu)	NC_000014.8:g.103405967C>A	(Likely) benign	1 lab	3805737f70
11:6415212 SMPD1 G>A	11	6415212	6415212	G	A	SMPD1	c.1427G>A	NM_000543.5	NP_000534.3:p.(Arg476Gln)	NC_000011.9:g.6415212G>A	VUS	1 lab	3809c55efd
2:233409620 CHRNG G>A	2	233409620	233409620	G	A	CHRNG	c.1380+8G>A	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233409620G>A	(Likely) benign	1 lab	380a0b1ac4
17:73996233 TEN1 G>A	17	73996233	73996233	G	A	TEN1	c.262G>A	NM_001113324.3	NP_001106795.2:p.(Val88Met)	NC_000017.10:g.73996233G>A	VUS	1 lab	380a606b7a
11:68171766 LRP5 G>A	11	68171766	68171766	G	A	LRP5	c.1801+599G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68171766G>A	(Likely) benign	1 lab	380addf5c6
13:109792986 MYO16 G>C	13	109792986	109792986	G	C	MYO16	c.4426G>C	NM_001198950.3	NP_001185879.1:p.(Gly1476Arg)	NC_000013.10:g.109792986G>C	(Likely) benign	1 lab	380e18e894
X:44929296 KDM6A A>G	X	44929296	44929296	A	G	KDM6A	c.2552A>G	NM_001291415.2	NP_001278344.1:p.(Lys851Arg)	NC_000023.10:g.44929296A>G	VUS	1 lab	380e7bfddb
7:100417397 EPHB4 C>T	7	100417397	100417397	C	T	EPHB4	c.1079G>A	NM_004444.5	NP_004435.3:p.(Arg360His)	NC_000007.13:g.100417397C>T	(Likely) benign	1 lab	380f1ab116
11:66466110 SPTBN2 C>T	11	66466110	66466110	C	T	SPTBN2	c.4014G>A	NM_006946.4	NP_008877.2:p.(Lys1338=)	NC_000011.9:g.66466110C>T	VUS	1 lab	3811466239
4:175413187 HPGD C>T	4	175413187	175413187	C	T	HPGD	c.721G>A	NM_000860.6	NP_000851.2:p.(Ala241Thr)	NC_000004.11:g.175413187C>T	VUS	1 lab	3811ed9e55
13:77570184 CLN5 G>T	13	77570184	77570184	G	T	CLN5	c.487G>T	NM_006493.4	NP_006484.2:p.(Ala163Ser)	NC_000013.10:g.77570184G>T	VUS	1 lab	3812911516
1:84641495 PRKACB G>A	1	84641495	84641495	G	A	PRKACB	c.188-3365G>A	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84641495G>A	(Likely) benign	1 lab	3812c6ed2e
6:157527713 ARID1B A>G	6	157527713	157527713	A	G	ARID1B	c.5807A>G	NM_001374828.1	NP_001361757.1:p.(Asn1936Ser)	NC_000006.11:g.157527713A>G	(Likely) benign	1 lab	3812c70fcc
X:19392615 MAP3K15 C>T	X	19392615	19392615	C	T	MAP3K15	c.2753G>A	NM_001001671.4	NP_001001671.3:p.(Arg918Gln)	NC_000023.10:g.19392615C>T	(Likely) benign	1 lab	381580e647
17:41243494 BRCA1 C>G	17	41243494	41243494	C	G	BRCA1	c.4054G>C	NM_007294.4	NP_009225.1:p.(Glu1352Gln)	NC_000017.10:g.41243494C>G	(Likely) benign	1 lab	381666e4a0
2:167133654 SCN9A G>A	2	167133654	167133654	G	A	SCN9A	c.2713C>T	NM_001365536.1	NP_001352465.1:p.(Leu905Phe)	NC_000002.11:g.167133654G>A	VUS	1 lab	3816aac672
6:43014697 CUL7 C>T	6	43014697	43014697	C	T	CUL7	c.2318G>A	NM_014780.5	NP_055595.2:p.(Arg773Gln)	NC_000006.11:g.43014697C>T	VUS	1 lab	3816c269b7
8:11614478 GATA4 C>T	8	11614478	11614478	C	T	GATA4	c.1035C>T	NM_001308093.3	NP_001295022.1:p.(Ser345=)	NC_000008.10:g.11614478C>T	(Likely) benign	1 lab	38171a1b46
10:89505621 PAPSS2 G>A	10	89505621	89505621	G	A	PAPSS2	c.1754G>A	NM_001015880.2	NP_001015880.1:p.(Arg585Gln)	NC_000010.10:g.89505621G>A	(Likely) benign	1 lab	381a56aee0
7:99051650 CPSF4 C>T	7	99051650	99051650	C	T	CPSF4	c.632C>T	NM_006693.4	NP_006684.1:p.(Ser211Phe)	NC_000007.13:g.99051650C>T	(Likely) benign	1 lab	381b03ff37
7:44663890 OGDH GTTTTTTTTTTT>G	7	44663890	44663909	GTTTTTTTTTTT	G	OGDH	c.-27-17_-27-7del	NM_002541.4	NP_002532.2:p.?	NC_000007.13:g.44663899_44663909del	VUS	1 lab	381be2700a
2:238296632 COL6A3 TTGG>T	2	238296632	238296638	TTGG	T	COL6A3	c.902_904del	NM_004369.4	NP_004360.2:p.(Thr301del)	NC_000002.11:g.238296636_238296638del	VUS	1 lab	381c19ea7a
14:101348489 RTL1 G>A	14	101348489	101348489	G	A	RTL1	c.2637C>T	NM_001134888.3	NP_001128360.1:p.(Thr879=)	NC_000014.8:g.101348489G>A	(Likely) benign	1 lab	381cf76cf1
16:2097826 NTHL1 C>T	16	2097826	2097826	C	T	NTHL1	c.-2G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2097826C>T	VUS	1 lab	38203b3d67
5:150696542 SLC36A2 TGGTGA>T	5	150696542	150696547	TGGTGA	T	SLC36A2	c.1283_1287del	NM_181776.3	NP_861441.2:p.(Val428AspfsTer95)	NC_000005.9:g.150696543_150696547del	VUS	1 lab	3821837bd8
19:55325146 KIR2DL4 T>G	19	55325146	55325146	T	G	KIR2DL4	c.708T>G	NM_001080770.2	NP_001074239.1:p.(Asp236Glu)	NC_000019.9:g.55325146T>G	(Likely) benign	1 lab	3821a0bf4d
12:102163914 GNPTAB C>T	12	102163914	102163914	C	T	GNPTAB	c.1169G>A	NM_024312.5	NP_077288.2:p.(Ser390Asn)	NC_000012.11:g.102163914C>T	VUS	1 lab	3821d6da21
1:144916567 PDE4DIP T>C	1	144916567	144916567	T	C	PDE4DIP	c.1983+3A>G	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144916567T>C	(Likely) benign	1 lab	38235f802f
1:17323655 ATP13A2 A>G	1	17323655	17323655	A	G	ATP13A2	c.1055T>C	NM_022089.4	NP_071372.1:p.(Val352Ala)	NC_000001.10:g.17323655A>G	VUS	1 lab	382499f405
1:46976280 DMBX1 G>A	1	46976280	46976280	G	A	DMBX1	c.287G>A	NM_172225.2	NP_757379.1:p.(Arg96His)	NC_000001.10:g.46976280G>A	VUS	1 lab	3824c0871c
4:120241928 FABP2 T>A	4	120241928	120241928	T	A	FABP2	c.137A>T	NM_000134.4	NP_000125.2:p.(Asn46Ile)	NC_000004.11:g.120241928T>A	VUS	1 lab	3824f7213b
16:88713250 CYBA G>T	16	88713250	88713250	G	T	CYBA				NC_000016.9:g.88713250G>T	(Likely) benign	1 lab	1e20b912fe
3:145796985 PLOD2 C>T	3	145796985	145796985	C	T	PLOD2	c.1418G>A	NM_182943.3	NP_891988.1:p.(Arg473Gln)	NC_000003.11:g.145796985C>T	VUS	1 lab	3826183404
3:11301309 HRH1 A>G	3	11301309	11301309	A	G	HRH1	c.586A>G	NM_001098212.2	NP_001091682.1:p.(Ile196Val)	NC_000003.11:g.11301309A>G	(Likely) benign	1 lab	382623e0e9
17:48153975 ITGA3 GACA>G	17	48153975	48153982	GACA	G	ITGA3	c.1857_1859del	NM_002204.4	NP_002195.1:p.(Asn619del)	NC_000017.10:g.48153980_48153982del	VUS	1 lab	38267add71
12:2706439 CACNA1C T>C	12	2706439	2706439	T	C	CACNA1C	c.2837T>C	NM_000719.7	NP_000710.5:p.(Ile946Thr)	NC_000012.11:g.2706439T>C	VUS	1 lab	38270a5e17
X:591836 SHOX G>A	X	591836	591836	G	A	SHOX	c.204G>A	NM_000451.3	NP_000442.1:p.(Val68=)	NC_000023.10:g.591836G>A	VUS	1 lab	382732db9e
8:101300336 RNF19A C>CA	8	101300336	101300337	C	CA	RNF19A	c.66dup	NM_183419.4	NP_904355.1:p.(Val23CysfsTer55)	NC_000008.10:g.101300337dup	VUS	1 lab	3828caf519
15:91419098 FURIN C>T	15	91419098	91419098	C	T	FURIN	c.128C>T	NM_002569.4	NP_002560.1:p.(Ala43Val)	NC_000015.9:g.91419098C>T	(Likely) benign	1 lab	3828ed3637
5:94838601 SKIC3 C>T	5	94838601	94838601	C	T	SKIC3	c.3324G>A	NM_014639.4	NP_055454.1:p.(Lys1108=)	NC_000005.9:g.94838601C>T	(Likely) benign	1 lab	1db606e455
1:154956533 FLAD1 G>T	1	154956533	154956533	G	T	FLAD1	c.363G>T	NM_025207.5	NP_079483.3:p.(Glu121Asp)	NC_000001.10:g.154956533G>T	VUS	1 lab	382d61c5cc
4:87666225 PTPN13 A>G	4	87666225	87666225	A	G	PTPN13	c.2594A>G	NM_080683.3	NP_542414.1:p.(His865Arg)	NC_000004.11:g.87666225A>G	VUS	1 lab	3832b4133b
17:29556104 NF1 G>A	17	29556104	29556104	G	A	NF1	c.2471G>A	NM_001042492.3	NP_001035957.1:p.(Gly824Glu)	NC_000017.10:g.29556104G>A	VUS	1 lab	383472942e
17:27183520 ERAL1 C>T	17	27183520	27183520	C	T	ERAL1	c.412-3C>T	NM_005702.4	NP_005693.1:p.?	NC_000017.10:g.27183520C>T	VUS	1 lab	38362ac029
9:135944109 CEL AT>A	9	135944109	135944110	AT	A	CEL	c.947del	NM_001807.6	NP_001798.3:p.(Ile316ThrfsTer18)	NC_000009.11:g.135944110del	(Likely) benign	1 lab	3836d0acb1
7:119915542 KCND2 A>T	7	119915542	119915542	A	T	KCND2	c.856A>T	NM_012281.3	NP_036413.1:p.(Ser286Cys)	NC_000007.13:g.119915542A>T	VUS	1 lab	3836dcda92
X:52679402 SSX7 C>G	X	52679402	52679402	C	G	SSX7	c.330+1G>C	NM_173358.2	NP_775494.1:p.?	NC_000023.10:g.52679402C>G	VUS	1 lab	38372588fc
1:15789304 CELA2A G>T	1	15789304	15789304	G	T	CELA2A	c.304G>T	NM_033440.3	NP_254275.1:p.(Val102Phe)	NC_000001.10:g.15789304G>T	(Likely) benign	1 lab	38374efc0b
X:63410992 AMER1 A>C	X	63410992	63410992	A	C	AMER1	c.2175T>G	NM_152424.4	NP_689637.3:p.(Asp725Glu)	NC_000023.10:g.63410992A>C	VUS	1 lab	3839ed48f6
9:140728959 EHMT1 G>T	9	140728959	140728959	G	T	EHMT1	c.3699G>T	NM_024757.5	NP_079033.4:p.(Glu1233Asp)	NC_000009.11:g.140728959G>T	VUS	1 lab	383a6de044
16:88496987 ZNF469 A>T	16	88496987	88496987	A	T	ZNF469	c.3109A>T	NM_001367624.2	NP_001354553.1:p.(Arg1037Trp)	NC_000016.9:g.88496987A>T	VUS	1 lab	383d01638b
17:59485758 TBX2 C>T	17	59485758	59485758	C	T	TBX2	c.2030C>T	NM_005994.4	NP_005985.3:p.(Pro677Leu)	NC_000017.10:g.59485758C>T	(Likely) benign	1 lab	383dfd3112
8:145740323 RECQL4 G>C	8	145740323	145740323	G	C	RECQL4	c.1617C>G	NM_004260.4	NP_004251.4:p.(Asp539Glu)	NC_000008.10:g.145740323G>C	VUS	1 lab	383eb4ea02
19:42880608 MEGF8 C>T	19	42880608	42880608	C	T	MEGF8	c.8219C>T	NM_001271938.2	NP_001258867.1:p.(Ala2740Val)	NC_000019.9:g.42880608C>T	VUS	1 lab	384343bae0
6:31626904 C6orf47 C>G	6	31626904	31626904	C	G	C6orf47	c.821G>C	NM_021184.4	NP_067007.3:p.(Trp274Ser)	NC_000006.11:g.31626904C>G	VUS	1 lab	3843a6777e
17:41246500 BRCA1 T>A	17	41246500	41246500	T	A	BRCA1	c.1048A>T	NM_007294.4	NP_009225.1:p.(Arg350Ter)	NC_000017.10:g.41246500T>A	(Likely) pathogenic	1 lab	1db949e39e
1:22154873 HSPG2 C>T	1	22154873	22154873	C	T	HSPG2	c.12284G>A	NM_005529.7	NP_005520.4:p.(Gly4095Asp)	NC_000001.10:g.22154873C>T	(Likely) benign	1 lab	384417e650
14:23852451 MYH6 G>C	14	23852451	23852451	G	C	MYH6	c.5644C>G	NM_002471.4	NP_002462.2:p.(Arg1882Gly)	NC_000014.8:g.23852451G>C	VUS	1 lab	38445137ea
9:135946888 CEL G>GC	9	135946888	135946896	G	GC	CEL	c.2007dup	NM_001807.6	NP_001798.3:p.(Val670ArgfsTer6)	NC_000009.11:g.135946896dup	(Likely) benign	1 lab	3845b58512
X:102334345 NXF3 G>A	X	102334345	102334345	G	A	NXF3	c.1277C>T	NM_022052.2	NP_071335.1:p.(Ala426Val)	NC_000023.10:g.102334345G>A	VUS	1 lab	3845da5a34
8:101724623 PABPC1 C>CA	8	101724623	101724624	C	CA	PABPC1	c.938_939insT	NM_002568.4	NP_002559.2:p.(Glu313AspfsTer10)	NC_000008.10:g.101724623_101724624insA	VUS	1 lab	3847cde71a
3:9517473 SETD5 A>G	3	9517473	9517473	A	G	SETD5	c.4027A>G	NM_001080517.3	NP_001073986.1:p.(Ser1343Gly)	NC_000003.11:g.9517473A>G	VUS	1 lab	384822c96b
20:62371737 SLC2A4RG C>A	20	62371737	62371737	C	A	SLC2A4RG	c.134C>A	NM_020062.4	NP_064446.2:p.(Ser45Tyr)	NC_000020.10:g.62371737C>A	VUS	1 lab	384b701ad1
15:68486421 CALML4 C>T	15	68486421	68486421	C	T	CALML4	c.394G>A	NM_033429.3	NP_219501.3:p.(Glu132Lys)	NC_000015.9:g.68486421C>T	VUS	1 lab	384d5d3603
19:1401454 GAMT G>T	19	1401454	1401454	G	T	GAMT	c.22C>A	NM_000156.6	NP_000147.1:p.(Pro8Thr)	NC_000019.9:g.1401454G>T	VUS	1 lab	3868bf032c
X:100169899 XKRX G>C	X	100169899	100169899	G	C	XKRX	c.778C>G	NM_212559.3	NP_997724.2:p.(Leu260Val)	NC_000023.10:g.100169899G>C	VUS	1 lab	384e53655c
14:88406262 GALC G>T	14	88406262	88406262	G	T	GALC	c.1898C>A	NM_000153.4	NP_000144.2:p.(Thr633Lys)	NC_000014.8:g.88406262G>T	VUS	1 lab	384e732145
1:151433830 POGZ C>T	1	151433830	151433830	C	T	POGZ				NC_000001.10:g.151433830C>T	(Likely) benign	1 lab	384ee21172
21:47419100 COL6A1 G>T	21	47419100	47419100	G	T	COL6A1	c.1708G>T	NM_001848.3	NP_001839.2:p.(Ala570Ser)	NC_000021.8:g.47419100G>T	VUS	1 lab	384ff3c837
11:105774679 GRIA4 G>C	11	105774679	105774679	G	C	GRIA4	c.1025G>C	NM_000829.4	NP_000820.4:p.(Gly342Ala)	NC_000011.9:g.105774679G>C	VUS	1 lab	3851d15e19
19:15355162 BRD4 C>T	19	15355162	15355162	C	T	BRD4	c.2461G>A	NM_001379291.1	NP_001366220.1:p.(Gly821Ser)	NC_000019.9:g.15355162C>T	(Likely) benign	1 lab	3852cf0772
1:35227625 GJB4 C>A	1	35227625	35227625	C	A	GJB4	c.770C>A	NM_153212.3	NP_694944.1:p.(Ser257Ter)	NC_000001.10:g.35227625C>A	VUS	1 lab	38538a5cd9
6:26157214 H1-4 C>G	6	26157214	26157214	C	G	H1-4	c.596C>G	NM_005321.3	NP_005312.1:p.(Ala199Gly)	NC_000006.11:g.26157214C>G	VUS	1 lab	1dba865c82
12:112318309 MAPKAPK5 C>T	12	112318309	112318309	C	T	MAPKAPK5	c.638C>T	NM_003668.4	NP_003659.2:p.(Pro213Leu)	NC_000012.11:g.112318309C>T	VUS	1 lab	3855b84e6c
X:112053138 AMOT C>T	X	112053138	112053138	C	T	AMOT	c.1614G>A	NM_001113490.2	NP_001106962.1:p.(Ser538=)	NC_000023.10:g.112053138C>T	(Likely) benign	1 lab	385929bf86
3:14212000 XPC G>A	3	14212000	14212000	G	A	XPC	c.350C>T	NM_004628.5	NP_004619.3:p.(Thr117Ile)	NC_000003.11:g.14212000G>A	(Likely) benign	1 lab	385ab4a1a7
11:45937061 PEX16 G>T	11	45937061	45937061	G	T	PEX16	c.418C>A	NM_004813.4	NP_004804.2:p.(Pro140Thr)	NC_000011.9:g.45937061G>T	VUS	1 lab	385c58295d
2:148696810 ORC4 G>A	2	148696810	148696810	G	A	ORC4	c.857C>T	NM_181741.4	NP_859525.1:p.(Ala286Val)	NC_000002.11:g.148696810G>A	(Likely) benign	1 lab	38624de638
6:152629644 SYNE1 C>A	6	152629644	152629644	C	A	SYNE1	c.17326G>T	NM_182961.4	NP_892006.3:p.(Ala5776Ser)	NC_000006.11:g.152629644C>A	VUS	1 lab	3862f424e2
X:38145198 RPGR TTCC>T	X	38145198	38145203	TTCC	T	RPGR	c.3051_3053del	NM_001034853.2	NP_001030025.1:p.(Glu1018del)	NC_000023.10:g.38145201_38145203del	(Likely) benign	1 lab	38641fb068
1:152081825 TCHH C>G	1	152081825	152081825	C	G	TCHH	c.3868G>C	NM_007113.4	NP_009044.2:p.(Asp1290His)	NC_000001.10:g.152081825C>G	VUS	1 lab	3865aa29e6
X:69478535 P2RY4 G>A	X	69478535	69478535	G	A	P2RY4	c.940C>T	NM_002565.4	NP_002556.1:p.(Arg314Ter)	NC_000023.10:g.69478535G>A	VUS	1 lab	3868cb2b12
16:1574777 IFT140 G>C	16	1574777	1574777	G	C	IFT140	c.2997+8C>G	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1574777G>C	(Likely) benign	1 lab	3869e4fee9
17:40642658 ATP6V0A1 A>G	17	40642658	40642658	A	G	ATP6V0A1	c.1174+3A>G	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40642658A>G	(Likely) benign	1 lab	386ad6a6c2
5:139227867 NRG2 G>GA	5	139227867	139227868	G	GA	NRG2	c.2187_2188insT	NM_004883.3	NP_004874.1:p.(Arg730SerfsTer166)	NC_000005.9:g.139227867_139227868insA	VUS	1 lab	386b3b489f
5:56111616 MAP3K1 G>C	5	56111616	56111616	G	C	MAP3K1	c.216G>C	NM_005921.2	NP_005912.1:p.(Gln72His)	NC_000005.9:g.56111616G>C	(Likely) benign	1 lab	386bea75e0
10:37454081 ANKRD30A G>C	10	37454081	37454081	G	C	ANKRD30A	c.2062G>C	NM_052997.3	NP_443723.3:p.(Glu688Gln)	NC_000010.10:g.37454081G>C	(Likely) benign	1 lab	386fdb60d3
3:183957799 VWA5B2 AG>A	3	183957799	183957803	AG	A	VWA5B2	c.2719del	NM_001390846.1	NP_001377775.1:p.(Ala907GlnfsTer34)	NC_000003.11:g.183957803del	VUS	1 lab	3870be63d6
3:155267682 PLCH1 T>C	3	155267682	155267682	T	C	PLCH1	c.1256A>G	NM_014996.4	NP_055811.2:p.(Tyr419Cys)	NC_000003.11:g.155267682T>C	VUS	1 lab	3871467800
19:18902068 COMP T>G	19	18902068	18902068	T	G	COMP	c.11A>C	NM_000095.3	NP_000086.2:p.(Asp4Ala)	NC_000019.9:g.18902068T>G	(Likely) benign	1 lab	3871e18682
11:61541436 MYRF CAGG>C	11	61541436	61541439	CAGG	C	MYRF	c.1116-2_1116del	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61541437_61541439del	(Likely) benign	1 lab	387252dee0
5:70900182 MCCC2 G>A	5	70900182	70900182	G	A	MCCC2	c.512-1G>A	NM_022132.5	NP_071415.1:p.?	NC_000005.9:g.70900182G>A	(Likely) pathogenic	1 lab	387472a325
19:17025272 CPAMD8 C>T	19	17025272	17025272	C	T	CPAMD8	c.3823G>A	NM_015692.5	NP_056507.3:p.(Val1275Met)	NC_000019.9:g.17025272C>T	VUS	1 lab	3874990c7d
X:138689859 MCF2 A>G	X	138689859	138689859	A	G	MCF2	c.1709T>C	NM_001171876.2	NP_001165347.1:p.(Val570Ala)	NC_000023.10:g.138689859A>G	VUS	1 lab	387536ed68
17:38245626 THRA C>T	17	38245626	38245626	C	T	THRA	c.1150C>T	NM_199334.5	NP_955366.1:p.(Arg384Cys)	NC_000017.10:g.38245626C>T	VUS	1 lab	3877c162f6
1:180235529 LHX4 G>A	1	180235529	180235529	G	A	LHX4	c.251G>A	NM_033343.4	NP_203129.1:p.(Arg84His)	NC_000001.10:g.180235529G>A	(Likely) benign	1 lab	3879b390be
10:129903518 MKI67 C>A	10	129903518	129903518	C	A	MKI67	c.6586G>T	NM_002417.5	NP_002408.3:p.(Gly2196Cys)	NC_000010.10:g.129903518C>A	VUS	1 lab	387a22676d
2:71871087 DYSF C>T	2	71871087	71871087	C	T	DYSF	c.4528-8C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71871087C>T	VUS	1 lab	387a6b93a1
11:113194042 TTC12 C>T	11	113194042	113194042	C	T	TTC12	c.91C>T	NM_017868.4	NP_060338.3:p.(Pro31Ser)	NC_000011.9:g.113194042C>T	VUS	1 lab	387ba8b391
22:33960945 LARGE1 CA>C	22	33960945	33960947	CA	C	LARGE1	c.675del	NM_133642.5	NP_598397.1:p.(Val226SerfsTer2)	NC_000022.10:g.33960947del	VUS	1 lab	387d8af856
14:57268504 OTX2 G>T	14	57268504	57268504	G	T	OTX2	c.843C>A	NM_021728.4	NP_068374.1:p.(Asp281Glu)	NC_000014.8:g.57268504G>T	VUS	1 lab	387e274a5f
2:197157446 HECW2 G>A	2	197157446	197157446	G	A	HECW2	c.2843C>T	NM_001348768.2	NP_001335697.1:p.(Thr948Met)	NC_000002.11:g.197157446G>A	VUS	1 lab	387f3c81ff
21:19725357 TMPRSS15 A>G	21	19725357	19725357	A	G	TMPRSS15	c.1034T>C	NM_002772.3	NP_002763.3:p.(Ile345Thr)	NC_000021.8:g.19725357A>G	VUS	1 lab	387fc9724e
1:235600049 TBCE A>C	1	235600049	235600049	A	C	TBCE	c.963+126A>C	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235600049A>C	(Likely) benign	1 lab	1e24ed7ef6
2:44200815 LRPPRC C>T	2	44200815	44200815	C	T	LRPPRC	c.1300G>A	NM_133259.4	NP_573566.2:p.(Gly434Ser)	NC_000002.11:g.44200815C>T	VUS	1 lab	38808958e1
4:184629699 TRAPPC11 G>A	4	184629699	184629699	G	A	TRAPPC11	c.3329G>A	NM_021942.6	NP_068761.4:p.(Arg1110His)	NC_000004.11:g.184629699G>A	VUS	1 lab	38812f38bc
8:145665460 TONSL GCCGCCTCCT>G	8	145665460	145665480	GCCGCCTCCT	G	TONSL	c.1415_1423del	NM_013432.5	NP_038460.4:p.(Glu472_Ala474del)	NC_000008.10:g.145665472_145665480del	VUS	1 lab	3883035a9b
2:191851761 STAT1 G>A	2	191851761	191851761	G	A	STAT1	c.1127+4C>T	NM_007315.4	NP_009330.1:p.?	NC_000002.11:g.191851761G>A	(Likely) benign	1 lab	388480d6fa
1:27876975 AHDC1 G>A	1	27876975	27876975	G	A	AHDC1	c.1652C>T	NM_001029882.3	NP_001025053.1:p.(Pro551Leu)	NC_000001.10:g.27876975G>A	VUS	1 lab	1dbcdc3011
17:10543735 MYH3 G>A	17	10543735	10543735	G	A	MYH3	c.2341C>T	NM_002470.4	NP_002461.2:p.(Arg781Cys)	NC_000017.10:g.10543735G>A	VUS	1 lab	3884c8bc88
8:61763869 CHD7 C>G	8	61763869	61763869	C	G	CHD7	c.5656C>G	NM_017780.4	NP_060250.2:p.(His1886Asp)	NC_000008.10:g.61763869C>G	(Likely) benign	1 lab	38859d0a41
1:92612786 BTBD8 A>T	1	92612786	92612786	A	T	BTBD8	c.980A>T	NM_001376131.1	NP_001363060.1:p.(His327Leu)	NC_000001.10:g.92612786A>T	VUS	1 lab	38867dfab0
21:47969758 DIP2A C>T	21	47969758	47969758	C	T	DIP2A	c.2597C>T	NM_015151.4	NP_055966.2:p.(Ser866Leu)	NC_000021.8:g.47969758C>T	VUS	1 lab	3886edac69
4:88537432 DSPP TAGCAGTGACAGCAGTGAC>T	4	88537432	88537455	TAGCAGTGACAGCAGTGAC	T	DSPP	c.3624_3641del	NM_014208.3	NP_055023.2:p.(Ser1226_Ser1231del)	NC_000004.11:g.88537438_88537455del	(Likely) benign	1 lab	388794955c
X:47092423 USP11 G>A	X	47092423	47092423	G	A	USP11	c.-20G>A	NM_001371072.1	NP_001358001.1:p.?	NC_000023.10:g.47092423G>A	(Likely) benign	1 lab	3889cdb6f7
15:48796041 FBN1 C>A	15	48796041	48796041	C	A	FBN1	c.2056G>T	NM_000138.5	NP_000129.3:p.(Ala686Ser)	NC_000015.9:g.48796041C>A	VUS	1 lab	38ede08ce8
X:8138138 VCX2 C>CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	X	8138138	8138160	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	VCX2	c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC	NM_016378.3	NP_057462.2:p.(Ser118_Glu119insGlnValGluGluProLeuSerGlnGluSer)	NC_000023.10:g.8138159_8138160insCTCCACCTGGCTCTCCTGACTCAGTGGTTC	VUS	1 lab	388c11d43a
16:89346379 ANKRD11 G>A	16	89346379	89346379	G	A	ANKRD11	c.6571C>T	NM_013275.6	NP_037407.4:p.(Pro2191Ser)	NC_000016.9:g.89346379G>A	VUS	1 lab	388ca1e535
16:56519604 BBS2 C>G	16	56519604	56519604	C	G	BBS2	c.1957G>C	NM_031885.5	NP_114091.4:p.(Asp653His)	NC_000016.9:g.56519604C>G	VUS	1 lab	388d08b597
2:8940525 KIDINS220 C>A	2	8940525	8940525	C	A	KIDINS220	c.900+5G>T	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8940525C>A	(Likely) benign	1 lab	388d621704
14:59003722 KIAA0586 C>T	14	59003722	59003722	C	T	KIAA0586	c.4430-3067C>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003722C>T	(Likely) benign	1 lab	388dab7030
9:140870474 CACNA1B G>C	9	140870474	140870474	G	C	CACNA1B	c.1656+3G>C	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140870474G>C	VUS	1 lab	388e936f38
7:2998126 CARD11 C>T	7	2998126	2998126	C	T	CARD11	c.7+8G>A	NM_032415.6	NP_115791.3:p.?	NC_000007.13:g.2998126C>T	(Likely) benign	1 lab	1e251cd207
5:14488031 TRIO G>A	5	14488031	14488031	G	A	TRIO	c.7294G>A	NM_007118.4	NP_009049.2:p.(Ala2432Thr)	NC_000005.9:g.14488031G>A	(Likely) benign	1 lab	3890489f44
19:5110667 KDM4B T>C	19	5110667	5110667	T	C	KDM4B	c.953T>C	NM_015015.3	NP_055830.1:p.(Met318Thr)	NC_000019.9:g.5110667T>C	VUS	1 lab	38909d7639
12:53452514 TNS2 C>T	12	53452514	53452514	C	T	TNS2	c.1338C>T	NM_015319.2	NP_056134.2:p.(Asn446=)	NC_000012.11:g.53452514C>T	(Likely) benign	1 lab	1e29667851
22:18566402 PEX26 C>T	22	18566402	18566402	C	T	PEX26	c.571C>T	NM_001127649.3	NP_001121121.1:p.(Arg191Trp)	NC_000022.10:g.18566402C>T	VUS	1 lab	3890fce50a
2:233394757 CHRND GC>G	2	233394757	233394759	GC	G	CHRND	c.730del	NM_000751.3	NP_000742.1:p.(Arg244AlafsTer82)	NC_000002.11:g.233394759del	VUS	1 lab	38926fe19f
4:6302773 WFS1 C>T	4	6302773	6302773	C	T	WFS1	c.1251C>T	NM_006005.3	NP_005996.2:p.(Phe417=)	NC_000004.11:g.6302773C>T	(Likely) benign	1 lab	3892d93918
12:53588113 ITGB7 C>G	12	53588113	53588113	C	G	ITGB7	c.1177G>C	NM_000889.3	NP_000880.1:p.(Val393Leu)	NC_000012.11:g.53588113C>G	(Likely) benign	1 lab	3895230399
2:197086966 HECW2 G>A	2	197086966	197086966	G	A	HECW2	c.4115C>T	NM_001348768.2	NP_001335697.1:p.(Thr1372Met)	NC_000002.11:g.197086966G>A	VUS	1 lab	3898fc881e
13:25480243 CPAP G>A	13	25480243	25480243	G	A	CPAP	c.1933C>T	NM_018451.5	NP_060921.3:p.(Arg645Cys)	NC_000013.10:g.25480243G>A	(Likely) benign	1 lab	389dcde209
3:183896701 AP2M1 G>A	3	183896701	183896701	G	A	AP2M1	c.131G>A	NM_004068.4	NP_004059.2:p.(Arg44His)	NC_000003.11:g.183896701G>A	VUS	1 lab	389de94dee
4:123252683 BLTP1 A>G	4	123252683	123252683	A	G	BLTP1	c.11716A>G	NM_001384125.1	NP_001371054.1:p.(Ile3906Val)	NC_000004.11:g.123252683A>G	VUS	1 lab	389ef05642
10:69970121 MYPN G>C	10	69970121	69970121	G	C	MYPN	c.3872G>C	NM_032578.4	NP_115967.2:p.(Gly1291Ala)	NC_000010.10:g.69970121G>C	VUS	1 lab	38a1d79255
16:58577437 CNOT1 TAGAC>T	16	58577437	58577442	TAGAC	T	CNOT1	c.4434+70_4434+73del	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58577439_58577442del	(Likely) benign	1 lab	38a3b7f102
11:47298298 MADD C>T	11	47298298	47298298	C	T	MADD	c.979C>T	NM_001376571.1	NP_001363500.1:p.(Arg327Ter)	NC_000011.9:g.47298298C>T	(Likely) pathogenic	1 lab	38a5a4691d
15:89825000 FANCI T>G	15	89825000	89825000	T	G	FANCI	c.1517T>G	NM_001113378.2	NP_001106849.1:p.(Leu506Arg)	NC_000015.9:g.89825000T>G	VUS	1 lab	38a6c4fa98
17:78081514 GAA C>T	17	78081514	78081514	C	T	GAA	c.851C>T	NM_000152.5	NP_000143.2:p.(Ala284Val)	NC_000017.10:g.78081514C>T	VUS	1 lab	38a78d4778
18:60035934 TNFRSF11A G>C	18	60035934	60035934	G	C	TNFRSF11A	c.784G>C	NM_003839.4	NP_003830.1:p.(Glu262Gln)	NC_000018.9:g.60035934G>C	VUS	1 lab	38a87a2f3f
16:15841446 MYH11 G>A	16	15841446	15841446	G	A	MYH11	c.2392C>T	NM_002474.3	NP_002465.1:p.(Arg798Cys)	NC_000016.9:g.15841446G>A	VUS	1 lab	1dbd9bf462
1:167487625 CD247 C>T	1	167487625	167487625	C	T	CD247	c.58+20G>A	NM_198053.2	NP_932170.1:p.?	NC_000001.10:g.167487625C>T	(Likely) benign	1 lab	1e2de6f228
2:33505175 LTBP1 A>T	2	33505175	33505175	A	T	LTBP1	c.3062A>T	NM_206943.4	NP_996826.3:p.(Gln1021Leu)	NC_000002.11:g.33505175A>T	VUS	1 lab	38afce9c4e
2:209010616 CRYGB A>G	2	209010616	209010616	A	G	CRYGB	c.134T>C	NM_005210.4	NP_005201.2:p.(Ile45Thr)	NC_000002.11:g.209010616A>G	VUS	1 lab	38afe34096
4:6303197 WFS1 G>C	4	6303197	6303197	G	C	WFS1	c.1675G>C	NM_006005.3	NP_005996.2:p.(Ala559Pro)	NC_000004.11:g.6303197G>C	(Likely) pathogenic	1 lab	38b136720b
1:160160801 CASQ1 T>C	1	160160801	160160801	T	C	CASQ1	c.260T>C	NM_001231.5	NP_001222.3:p.(Met87Thr)	NC_000001.10:g.160160801T>C	(Likely) benign	1 lab	38b22335d8
X:40552129 MED14 T>C	X	40552129	40552129	T	C	MED14	c.1676A>G	NM_004229.4	NP_004220.2:p.(Asn559Ser)	NC_000023.10:g.40552129T>C	(Likely) benign	1 lab	38b3b8d3ab
10:43285916 BMS1 C>T	10	43285916	43285916	C	T	BMS1	c.593C>T	NM_014753.4	NP_055568.3:p.(Thr198Ile)	NC_000010.10:g.43285916C>T	VUS	1 lab	38b428b214
11:130079439 ST14 T>G	11	130079439	130079439	T	G	ST14	c.2372T>G	NM_021978.4	NP_068813.1:p.(Val791Gly)	NC_000011.9:g.130079439T>G	VUS	1 lab	38b4e108c2
17:1373557 MYO1C C>G	17	1373557	1373557	C	G	MYO1C	c.2438G>C	NM_001080779.2	NP_001074248.1:p.(Arg813Pro)	NC_000017.10:g.1373557C>G	VUS	1 lab	38b599422e
17:48263313 COL1A1 C>T	17	48263313	48263313	C	T	COL1A1	c.4074G>A	NM_000088.4	NP_000079.2:p.(Met1358Ile)	NC_000017.10:g.48263313C>T	VUS	1 lab	38b5eecb1d
9:135946712 CEL G>A	9	135946712	135946712	G	A	CEL	c.1823G>A	NM_001807.6	NP_001798.3:p.(Gly608Asp)	NC_000009.11:g.135946712G>A	(Likely) benign	1 lab	38b6246779
6:50791446 TFAP2B C>A	6	50791446	50791446	C	A	TFAP2B	c.408C>A	NM_003221.4	NP_003212.2:p.(Asp136Glu)	NC_000006.11:g.50791446C>A	(Likely) benign	1 lab	38b69a21cb
16:3824921 CREBBP C>T	16	3824921	3824921	C	T	CREBBP	c.2159-227G>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3824921C>T	(Likely) benign	1 lab	38b6ee2c9a
1:12024270 PLOD1 T>C	1	12024270	12024270	T	C	PLOD1	c.1241T>C	NM_000302.4	NP_000293.2:p.(Leu414Pro)	NC_000001.10:g.12024270T>C	VUS	1 lab	38b79da9aa
6:33134875 COL11A2 C>T	6	33134875	33134875	C	T	COL11A2	c.4202G>A	NM_080680.3	NP_542411.2:p.(Arg1401Gln)	NC_000006.11:g.33134875C>T	VUS	1 lab	38bb0b58fe
17:40871113 EZH1 C>G	17	40871113	40871113	C	G	EZH1	c.767+10G>C	NM_001991.5	NP_001982.2:p.?	NC_000017.10:g.40871113C>G	(Likely) benign	1 lab	38bbc663fe
6:129826434 LAMA2 G>C	6	129826434	129826434	G	C	LAMA2	c.8637G>C	NM_000426.4	NP_000417.3:p.(Leu2879=)	NC_000006.11:g.129826434G>C	(Likely) benign	1 lab	38bbf209c9
2:179434001 TTN T>C	2	179434001	179434001	T	C	TTN	c.76858A>G	NM_001267550.2	NP_001254479.2:p.(Ile25620Val)	NC_000002.11:g.179434001T>C	VUS	1 lab	38be9d23b9
1:981388 AGRN G>A	1	981388	981388	G	A	AGRN	c.2725G>A	NM_198576.4	NP_940978.2:p.(Gly909Ser)	NC_000001.10:g.981388G>A	VUS	1 lab	38c04d08ae
17:65905835 BPTF A>G	17	65905835	65905835	A	G	BPTF	c.2950A>G	NM_182641.4	NP_872579.2:p.(Asn984Asp)	NC_000017.10:g.65905835A>G	(Likely) benign	1 lab	38c0ee128a
15:89402228 ACAN G>T	15	89402228	89402228	G	T	ACAN	c.6412G>T	NM_001369268.1	NP_001356197.1:p.(Glu2138Ter)	NC_000015.9:g.89402228G>T	(Likely) pathogenic	1 lab	38c0f086a2
22:45929725 FBLN1 G>A	22	45929725	45929725	G	A	FBLN1	c.731G>A	NM_006486.3	NP_006477.3:p.(Arg244Gln)	NC_000022.10:g.45929725G>A	VUS	1 lab	38c5b1c038
16:89849480 FANCA C>T	16	89849480	89849480	C	T	FANCA	c.1501G>A	NM_000135.4	NP_000126.2:p.(Gly501Ser)	NC_000016.9:g.89849480C>T	(Likely) benign	1 lab	1dbda0d9c3
16:2150311 PKD1 C>G	16	2150311	2150311	C	G	PKD1	c.9569-1G>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2150311C>G	(Likely) pathogenic	1 lab	38c786e7d4
2:170112639 LRP2 G>T	2	170112639	170112639	G	T	LRP2	c.2747C>A	NM_004525.3	NP_004516.2:p.(Pro916Gln)	NC_000002.11:g.170112639G>T	VUS	1 lab	38c8a9b8ca
8:145666427 TONSL C>T	8	145666427	145666427	C	T	TONSL	c.933G>A	NM_013432.5	NP_038460.4:p.(Met311Ile)	NC_000008.10:g.145666427C>T	VUS	1 lab	38c8c8e117
10:79397225 KCNMA1 G>A	10	79397225	79397225	G	A	KCNMA1	c.176C>T	NM_001161352.2	NP_001154824.1:p.(Ser59Phe)	NC_000010.10:g.79397225G>A	VUS	1 lab	38c9e8c21e
12:32858759 DNM1L A>G	12	32858759	32858759	A	G	DNM1L	c.251-1542A>G	NM_012062.5	NP_036192.2:p.?	NC_000012.11:g.32858759A>G	(Likely) benign	1 lab	38cb6c7d12
21:38862534 DYRK1A T>C	21	38862534	38862534	T	C	DYRK1A	c.695T>C	NM_001347721.2	NP_001334650.1:p.(Leu232Pro)	NC_000021.8:g.38862534T>C	(Likely) pathogenic	1 lab	38cbe983db
4:15581796 CC2D2A T>G	4	15581796	15581796	T	G	CC2D2A	c.3975+2T>G	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15581796T>G	VUS	1 lab	38cbee5f94
10:47087390 NPY4R G>A	10	47087390	47087390	G	A	NPY4R	c.607G>A	NM_005972.6	NP_005963.4:p.(Glu203Lys)	NC_000010.10:g.47087390G>A	VUS	1 lab	38ccbbd812
9:94613684 ROR2 T>C	9	94613684	94613684	T	C	ROR2	c.98-75584A>G	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94613684T>C	(Likely) benign	1 lab	38cebd51ed
5:13737379 DNAH5 G>A	5	13737379	13737379	G	A	DNAH5	c.11437C>T	NM_001369.3	NP_001360.1:p.(Arg3813Trp)	NC_000005.9:g.13737379G>A	VUS	1 lab	38cf2aa545
5:56111415 MAP3K1 G>A	5	56111415	56111415	G	A	MAP3K1	c.15G>A	NM_005921.2	NP_005912.1:p.(Ala5=)	NC_000005.9:g.56111415G>A	(Likely) benign	1 lab	38d18fd9e7
11:45955677 PHF21A C>T	11	45955677	45955677	C	T	PHF21A	c.1888G>A	NM_001352027.3	NP_001338956.1:p.(Asp630Asn)	NC_000011.9:g.45955677C>T	(Likely) benign	1 lab	38d2303048
5:154304118 GEMIN5 CAA>C	5	154304118	154304126	CAA	C	GEMIN5	c.1294-6_1294-5del	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154304125_154304126del	(Likely) benign	1 lab	38d4f7fccf
X:120006599 CT47B1 A>G	X	120006599	120006599	A	G	CT47B1	c.*32-5T>C	NM_001145718.3	NP_001139190.1:p.?	NC_000023.10:g.120006599A>G	(Likely) benign	1 lab	38d7e631d5
7:5399048 TNRC18 G>A	7	5399048	5399048	G	A	TNRC18	c.4814C>T	NM_001080495.3	NP_001073964.2:p.(Ser1605Leu)	NC_000007.13:g.5399048G>A	(Likely) benign	1 lab	38db0b4997
19:16962244 SIN3B G>A	19	16962244	16962244	G	A	SIN3B	c.748G>A	NM_001297595.2	NP_001284524.1:p.(Glu250Lys)	NC_000019.9:g.16962244G>A	(Likely) benign	1 lab	38db108cd9
6:108535705 SNX3 T>C	6	108535705	108535705	T	C	SNX3	c.380A>G	NM_003795.6	NP_003786.1:p.(Asn127Ser)	NC_000006.11:g.108535705T>C	VUS	1 lab	38dc2fa3c3
1:22180723 HSPG2 C>T	1	22180723	22180723	C	T	HSPG2	c.6402G>A	NM_005529.7	NP_005520.4:p.(Val2134=)	NC_000001.10:g.22180723C>T	(Likely) benign	1 lab	38dc9160c3
4:5754591 EVC C>T	4	5754591	5754591	C	T	EVC	c.1127C>T	NM_153717.3	NP_714928.1:p.(Ala376Val)	NC_000004.11:g.5754591C>T	(Likely) benign	1 lab	38deca9215
7:104746070 KMT2E C>T	7	104746070	104746070	C	T	KMT2E	c.2381C>T	NM_182931.3	NP_891847.1:p.(Thr794Ile)	NC_000007.13:g.104746070C>T	(Likely) benign	1 lab	38e146fa1c
2:186673628 FSIP2 T>C	2	186673628	186673628	T	C	FSIP2	c.19595T>C	NM_173651.4	NP_775922.3:p.(Ile6532Thr)	NC_000002.11:g.186673628T>C	VUS	1 lab	38e310c4ea
2:179585136 TTN A>C	2	179585136	179585136	A	C	TTN	c.23353T>G	NM_001267550.2	NP_001254479.2:p.(Cys7785Gly)	NC_000002.11:g.179585136A>C	VUS	1 lab	38e3295c8f
12:88505598 CEP290 G>C	12	88505598	88505598	G	C	CEP290	c.2090C>G	NM_025114.4	NP_079390.3:p.(Ala697Gly)	NC_000012.11:g.88505598G>C	VUS	1 lab	38e5290f1b
9:140409842 PNPLA7 G>A	9	140409842	140409842	G	A	PNPLA7	c.1214C>T	NM_001098537.3	NP_001092007.2:p.(Ser405Leu)	NC_000009.11:g.140409842G>A	VUS	1 lab	38e716ad2a
8:92083386 OTUD6B A>T	8	92083386	92083386	A	T	OTUD6B	c.103A>T	NM_016023.5	NP_057107.4:p.(Asn35Tyr)	NC_000008.10:g.92083386A>T	VUS	1 lab	38e7951be9
1:115275331 CSDE1 T>C	1	115275331	115275331	T	C	CSDE1	c.944A>G	NM_001007553.3	NP_001007554.1:p.(His315Arg)	NC_000001.10:g.115275331T>C	(Likely) benign	1 lab	38e8cbf6d5
3:172165773 GHSR GC>G	3	172165773	172165774	GC	G	GHSR	c.430del	NM_198407.2	NP_940799.1:p.(Ala144ProfsTer17)	NC_000003.11:g.172165774del	VUS	1 lab	38e9415791
7:794207 DNAAF5 TTTCCCTTTTTCG>T	7	794207	794223	TTTCCCTTTTTCG	T	DNAAF5	c.1025-14_1025-3del	NM_017802.4	NP_060272.3:p.?	NC_000007.13:g.794212_794223del	VUS	1 lab	38eb77fb9f
7:44187331 GCK C>T	7	44187331	44187331	C	T	GCK	c.781G>A	NM_000162.5	NP_000153.1:p.(Gly261Arg)	NC_000007.13:g.44187331C>T	(Likely) pathogenic	1 lab	38eccc53cc
17:15449166 TVP23C A>G	17	15449166	15449166	A	G	TVP23C	c.395T>C	NM_001135036.2	NP_001128508.1:p.(Ile132Thr)	NC_000017.10:g.15449166A>G	VUS	1 lab	38ee0e2525
17:42336860 SLC4A1 C>T	17	42336860	42336860	C	T	SLC4A1	c.694+5G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42336860C>T	VUS	1 lab	38ee44644d
2:24194283 UBXN2A A>G	2	24194283	24194283	A	G	UBXN2A	c.179A>G	NM_181713.4	NP_859064.2:p.(Gln60Arg)	NC_000002.11:g.24194283A>G	(Likely) benign	1 lab	38eed53df8
2:33447140 LTBP1 C>G	2	33447140	33447140	C	G	LTBP1	c.1805-7C>G	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33447140C>G	(Likely) benign	1 lab	38efe3703f
14:21862295 CHD8 G>C	14	21862295	21862295	G	C	CHD8	c.5659C>G	NM_001170629.2	NP_001164100.1:p.(Leu1887Val)	NC_000014.8:g.21862295G>C	VUS	1 lab	38f022963f
19:41931741 B3GNT8 G>A	19	41931741	41931741	G	A	B3GNT8	c.943C>T	NM_001385648.2	NP_001372577.1:p.(Arg315Cys)	NC_000019.9:g.41931741G>A	VUS	1 lab	38f098742f
14:77896120 VIPAS39 G>A	14	77896120	77896120	G	A	VIPAS39	c.1180-10C>T	NM_001193315.2	NP_001180244.1:p.?	NC_000014.8:g.77896120G>A	(Likely) benign	1 lab	38f0b01af0
8:41552213 ANK1 G>A	8	41552213	41552213	G	A	ANK1	c.3224C>T	NM_000037.4	NP_000028.3:p.(Thr1075Ile)	NC_000008.10:g.41552213G>A	(Likely) benign	1 lab	38f3e8469a
3:32201081 GPD1L G>T	3	32201081	32201081	G	T	GPD1L	c.874G>T	NM_015141.4	NP_055956.1:p.(Glu292Ter)	NC_000003.11:g.32201081G>T	VUS	1 lab	38f4c34280
X:15677154 CLTRN T>G	X	15677154	15677154	T	G	CLTRN	c.188A>C	NM_020665.6	NP_065716.1:p.(Asn63Thr)	NC_000023.10:g.15677154T>G	(Likely) benign	1 lab	38f6c6a918
3:118906825 UPK1B A>G	3	118906825	118906825	A	G	UPK1B	c.270+3A>G	NM_006952.4	NP_008883.2:p.?	NC_000003.11:g.118906825A>G	VUS	1 lab	38f7d8e2b8
1:155206051 GBA1 G>C	1	155206051	155206051	G	C	GBA1	c.1209C>G	NM_000157.4	NP_000148.2:p.(Ser403Arg)	NC_000001.10:g.155206051G>C	VUS	1 lab	38f7f62075
14:39531042 SEC23A C>A	14	39531042	39531042	C	A	SEC23A	c.1432G>T	NM_006364.4	NP_006355.2:p.(Ala478Ser)	NC_000014.8:g.39531042C>A	(Likely) benign	1 lab	38f913af01
15:99434635 IGF1R C>T	15	99434635	99434635	C	T	IGF1R	c.722C>T	NM_000875.5	NP_000866.1:p.(Ala241Val)	NC_000015.9:g.99434635C>T	(Likely) benign	1 lab	38f9902e91
2:26700047 OTOF G>A	2	26700047	26700047	G	A	OTOF	c.2516C>T	NM_194248.3	NP_919224.1:p.(Ala839Val)	NC_000002.11:g.26700047G>A	VUS	1 lab	38fb28deba
17:59556051 TBX4 A>C	17	59556051	59556051	A	C	TBX4	c.613A>C	NM_001321120.2	NP_001308049.1:p.(Asn205His)	NC_000017.10:g.59556051A>C	VUS	1 lab	38fbb5c9c9
10:71690308 COL13A1 G>A	10	71690308	71690308	G	A	COL13A1	c.1683G>A	NM_001368882.1	NP_001355811.1:p.(Pro561=)	NC_000010.10:g.71690308G>A	VUS	1 lab	38fc010766
8:22011690 LGI3 C>G	8	22011690	22011690	C	G	LGI3	c.387G>C	NM_139278.4	NP_644807.1:p.(Lys129Asn)	NC_000008.10:g.22011690C>G	VUS	1 lab	38fd2d1bb5
19:49657754 HRC G>T	19	49657754	49657754	G	T	HRC	c.741C>A	NM_002152.3	NP_002143.1:p.(Asp247Glu)	NC_000019.9:g.49657754G>T	VUS	1 lab	38fdc3dc78
9:131486320 ZDHHC12 G>A	9	131486320	131486320	G	A	ZDHHC12	c.53C>T	NM_032799.5	NP_116188.3:p.(Thr18Ile)	NC_000009.11:g.131486320G>A	(Likely) benign	1 lab	38ffccfc2e
3:142281186 ATR A>C	3	142281186	142281186	A	C	ATR	c.1058T>G	NM_001184.4	NP_001175.2:p.(Phe353Cys)	NC_000003.11:g.142281186A>C	VUS	1 lab	38fff5dda4
17:66918391 ABCA8 G>C	17	66918391	66918391	G	C	ABCA8	c.1493C>G	NM_001288985.2	NP_001275914.1:p.(Ala498Gly)	NC_000017.10:g.66918391G>C	VUS	1 lab	3900fd5fbe
14:101347456 RTL1 C>T	14	101347456	101347456	C	T	RTL1	c.3670G>A	NM_001134888.3	NP_001128360.1:p.(Val1224Ile)	NC_000014.8:g.101347456C>T	(Likely) benign	1 lab	39016d7f16
12:52864973 KRT6C T>A	12	52864973	52864973	T	A	KRT6C	c.1020A>T	NM_173086.5	NP_775109.2:p.(Gln340His)	NC_000012.11:g.52864973T>A	(Likely) benign	1 lab	39020cde0e
7:31011717 GHRHR G>T	7	31011717	31011717	G	T	GHRHR	c.597+7G>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31011717G>T	(Likely) benign	1 lab	3903373992
2:152435935 NEB G>A	2	152435935	152435935	G	A	NEB	c.16621C>T	NM_001164508.2	NP_001157980.2:p.(Arg5541Cys)	NC_000002.11:g.152435935G>A	VUS	1 lab	3903dd0698
2:220423116 OBSL1 G>A	2	220423116	220423116	G	A	OBSL1	c.3292C>T	NM_015311.3	NP_056126.1:p.(Arg1098Cys)	NC_000002.11:g.220423116G>A	VUS	1 lab	3904203836
1:205156897 DSTYK C>G	1	205156897	205156897	C	G	DSTYK	c.303G>C	NM_015375.3	NP_056190.1:p.(Glu101Asp)	NC_000001.10:g.205156897C>G	VUS	1 lab	3904c36e1b
1:120284480 PHGDH T>A	1	120284480	120284480	T	A	PHGDH	c.1169T>A	NM_006623.4	NP_006614.2:p.(Leu390Ter)	NC_000001.10:g.120284480T>A	(Likely) pathogenic	1 lab	3907765f3a
7:27135096 HOXA1 G>T	7	27135096	27135096	G	T	HOXA1	c.436C>A	NM_005522.5	NP_005513.2:p.(His146Asn)	NC_000007.13:g.27135096G>T	(Likely) benign	1 lab	39079e0f55
2:215633991 BARD1 G>C	2	215633991	215633991	G	C	BARD1	c.1360C>G	NM_000465.4	NP_000456.2:p.(Pro454Ala)	NC_000002.11:g.215633991G>C	VUS	1 lab	390a802909
12:49421624 KMT2D G>C	12	49421624	49421624	G	C	KMT2D	c.14605C>G	NM_003482.4	NP_003473.3:p.(Leu4869Val)	NC_000012.11:g.49421624G>C	VUS	1 lab	390a8bb25a
X:140993531 MAGEC1 T>G	X	140993531	140993531	T	G	MAGEC1	c.341T>G	NM_005462.5	NP_005453.2:p.(Ile114Ser)	NC_000023.10:g.140993531T>G	(Likely) benign	1 lab	390c3cf824
13:100637369 ZIC2 A>G	13	100637369	100637369	A	G	ZIC2	c.1239+6A>G	NM_007129.5	NP_009060.2:p.?	NC_000013.10:g.100637369A>G	(Likely) benign	1 lab	390cf4919f
12:69140546 SLC35E3 T>G	12	69140546	69140546	T	G	SLC35E3	c.389T>G	NM_018656.5	NP_061126.2:p.(Ile130Ser)	NC_000012.11:g.69140546T>G	(Likely) benign	1 lab	390d0b7638
3:112727040 RMP64 G>A	3	112727040	112727040	G	A	RMP64	c.1213C>T	NM_015412.4	NP_056227.2:p.(His405Tyr)	NC_000003.11:g.112727040G>A	(Likely) benign	1 lab	390e54e90a
3:134329176 KY C>T	3	134329176	134329176	C	T	KY	c.760G>A	NM_178554.6	NP_848649.3:p.(Gly254Ser)	NC_000003.11:g.134329176C>T	VUS	1 lab	390f546cf3
15:99465423 IGF1R A>G	15	99465423	99465423	A	G	IGF1R	c.2248A>G	NM_000875.5	NP_000866.1:p.(Met750Val)	NC_000015.9:g.99465423A>G	(Likely) benign	1 lab	39108286e8
X:71359416 NHSL2 C>T	X	71359416	71359416	C	T	NHSL2	c.2018C>T	NM_001013627.3	NP_001013649.2:p.(Ser673Leu)	NC_000023.10:g.71359416C>T	VUS	1 lab	3910b8fb30
3:52537357 STAB1 C>A	3	52537357	52537357	C	A	STAB1	c.695-3C>A	NM_015136.3	NP_055951.2:p.?	NC_000003.11:g.52537357C>A	(Likely) benign	1 lab	3910c8bc39
2:8873672 KIDINS220 A>T	2	8873672	8873672	A	T	KIDINS220	c.3955T>A	NM_020738.4	NP_065789.1:p.(Ser1319Thr)	NC_000002.11:g.8873672A>T	(Likely) benign	1 lab	39136628bd
17:42953358 EFTUD2 TG>T	17	42953358	42953360	TG	T	EFTUD2	c.812del	NM_004247.4	NP_004238.3:p.(Pro271GlnfsTer18)	NC_000017.10:g.42953360del	(Likely) pathogenic	1 lab	39144810df
X:155111100 VAMP7 G>A	X	155111100	155111100	G	A	VAMP7	c.-21G>A	NM_005638.6	NP_005629.1:p.?	NC_000023.10:g.155111100G>A	VUS	1 lab	39154adb93
15:28538123 HERC2 T>C	15	28538123	28538123	T	C	HERC2	c.233A>G	NM_004667.6	NP_004658.3:p.(Asp78Gly)	NC_000015.9:g.28538123T>C	VUS	1 lab	391658b3d1
11:107920686 CUL5 A>T	11	107920686	107920686	A	T	CUL5	c.304A>T	NM_003478.6	NP_003469.2:p.(Thr102Ser)	NC_000011.9:g.107920686A>T	VUS	1 lab	39188d229c
8:145730673 GPT G>A	8	145730673	145730673	G	A	GPT	c.540G>A	NM_005309.3	NP_005300.1:p.(Thr180=)	NC_000008.10:g.145730673G>A	VUS	1 lab	3918dc965a
12:57643001 STAC3 C>T	12	57643001	57643001	C	T	STAC3	c.157G>A	NM_145064.3	NP_659501.1:p.(Val53Met)	NC_000012.11:g.57643001C>T	VUS	1 lab	3918e4cab0
13:111143645 COL4A2 G>A	13	111143645	111143645	G	A	COL4A2	c.3412G>A	NM_001846.4	NP_001837.2:p.(Val1138Met)	NC_000013.10:g.111143645G>A	VUS	1 lab	391ae76c79
15:57731303 CGNL1 G>A	15	57731303	57731303	G	A	CGNL1	c.1106G>A	NM_032866.5	NP_116255.2:p.(Arg369Lys)	NC_000015.9:g.57731303G>A	(Likely) benign	1 lab	391c8ebd44
4:79462141 FRAS1 A>G	4	79462141	79462141	A	G	FRAS1	c.11902A>G	NM_025074.7	NP_079350.5:p.(Arg3968Gly)	NC_000004.11:g.79462141A>G	VUS	1 lab	391cb71298
X:57618703 ZXDB G>C	X	57618703	57618703	G	C	ZXDB	c.222G>C	NM_007157.4	NP_009088.1:p.(Leu74Phe)	NC_000023.10:g.57618703G>C	VUS	1 lab	391cc2b444
17:73736919 ITGB4 C>T	17	73736919	73736919	C	T	ITGB4	c.2596C>T	NM_000213.5	NP_000204.3:p.(Gln866Ter)	NC_000017.10:g.73736919C>T	VUS	1 lab	391ced3c9c
17:17696566 RAI1 G>A	17	17696566	17696566	G	A	RAI1	c.304G>A	NM_030665.4	NP_109590.3:p.(Val102Ile)	NC_000017.10:g.17696566G>A	(Likely) benign	1 lab	391ddcb2a4
5:147491412 SPINK5 G>C	5	147491412	147491412	G	C	SPINK5	c.1774G>C	NM_006846.4	NP_006837.2:p.(Asp592His)	NC_000005.9:g.147491412G>C	VUS	1 lab	391e2999ce
19:33355680 SLC7A9 C>T	19	33355680	33355680	C	T	SLC7A9	c.90G>A	NM_014270.5	NP_055085.1:p.(Leu30=)	NC_000019.9:g.33355680C>T	(Likely) benign	1 lab	1e31a56906
19:58152471 ZNF211 C>G	19	58152471	58152471	C	G	ZNF211	c.656C>G	NM_006385.5	NP_006376.2:p.(Thr219Ser)	NC_000019.9:g.58152471C>G	VUS	1 lab	391f204717
2:179638289 TTN AG>A	2	179638289	179638290	AG	A	TTN	c.7493del	NM_001267550.2	NP_001254479.2:p.(Thr2498IlefsTer5)	NC_000002.11:g.179638290del	(Likely) pathogenic	1 lab	33dd2269e7
16:2156147 PKD1 C>T	16	2156147	2156147	C	T	PKD1	c.7648G>A	NM_001009944.3	NP_001009944.3:p.(Gly2550Ser)	NC_000016.9:g.2156147C>T	(Likely) benign	1 lab	39200847a4
2:176964944 HOXD12 T>C	2	176964944	176964944	T	C	HOXD12	c.415T>C	NM_021193.4	NP_067016.3:p.(Tyr139His)	NC_000002.11:g.176964944T>C	VUS	1 lab	392061fc18
4:4199085 OTOP1 G>A	4	4199085	4199085	G	A	OTOP1	c.1476C>T	NM_177998.3	NP_819056.1:p.(Gly492=)	NC_000004.11:g.4199085G>A	VUS	1 lab	3923355f3b
19:11152179 SMARCA4 C>T	19	11152179	11152179	C	T	SMARCA4	c.4367C>T	NM_003072.5	NP_003063.2:p.(Pro1456Leu)	NC_000019.9:g.11152179C>T	VUS	1 lab	3924a76def
16:2026084 TBL3 G>A	16	2026084	2026084	G	A	TBL3	c.1157G>A	NM_006453.3	NP_006444.2:p.(Arg386Gln)	NC_000016.9:g.2026084G>A	(Likely) benign	1 lab	3924b00760
16:17221704 XYLT1 C>A	16	17221704	17221704	C	A	XYLT1	c.2042G>T	NM_022166.4	NP_071449.1:p.(Gly681Val)	NC_000016.9:g.17221704C>A	(Likely) benign	1 lab	39255b0bad
12:120662076 PXN A>T	12	120662076	120662076	A	T	PXN	c.118T>A	NM_001385981.1	NP_001372910.1:p.(Tyr40Asn)	NC_000012.11:g.120662076A>T	VUS	1 lab	3925ac7063
16:4390989 PAM16 G>A	16	4390989	4390989	G	A	PAM16	c.226-3C>T	NM_016069.11	NP_057153.8:p.?	NC_000016.9:g.4390989G>A	VUS	1 lab	392627c296
9:79306988 PRUNE2 A>T	9	79306988	79306988	A	T	PRUNE2	c.8276+11265T>A	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79306988A>T	VUS	1 lab	39279fe1a3
7:107732826 LAMB4 C>T	7	107732826	107732826	C	T	LAMB4	c.1506G>A	NM_007356.3	NP_031382.2:p.(Gly502=)	NC_000007.13:g.107732826C>T	(Likely) benign	1 lab	392d5a6cb9
11:61160108 TMEM216 T>C	11	61160108	61160108	T	C	TMEM216	c.5T>C	NM_001173990.3	NP_001167461.1:p.(Leu2Pro)	NC_000011.9:g.61160108T>C	(Likely) benign	1 lab	3930c3fd67
X:154299816 BRCC3 T>TGGTGCAGGC	X	154299816	154299837	T	TGGTGCAGGC	BRCC3	c.27_35dup	NM_001018055.3	NP_001018065.1:p.(Gln10_Val12dup)	NC_000023.10:g.154299829_154299837dup	(Likely) benign	1 lab	3932499a99
17:63526228 AXIN2 G>C	17	63526228	63526228	G	C	AXIN2	c.2406-8C>G	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63526228G>C	(Likely) benign	1 lab	393337ef9b
16:23634307 PALB2 C>T	16	23634307	23634307	C	T	PALB2	c.2979G>A	NM_024675.4	NP_078951.2:p.(Thr993=)	NC_000016.9:g.23634307C>T	(Likely) benign	1 lab	3935d29176
19:18895790 COMP G>A	19	18895790	18895790	G	A	COMP	c.1830C>T	NM_000095.3	NP_000086.2:p.(Tyr610=)	NC_000019.9:g.18895790G>A	(Likely) benign	1 lab	3935e8c679
7:86817452 DMTF1 A>C	7	86817452	86817452	A	C	DMTF1	c.1246A>C	NM_001142327.2	NP_001135799.1:p.(Asn416His)	NC_000007.13:g.86817452A>C	(Likely) benign	1 lab	3937b616e3
16:89256910 CDH15 G>A	16	89256910	89256910	G	A	CDH15	c.1232+6G>A	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89256910G>A	(Likely) benign	1 lab	3937ebfcc5
20:30414603 MYLK2 C>T	20	30414603	30414603	C	T	MYLK2	c.1086C>T	NM_033118.4	NP_149109.1:p.(Ile362=)	NC_000020.10:g.30414603C>T	(Likely) benign	1 lab	1dbfc55e23
17:45384950 ITGB3 C>T	17	45384950	45384950	C	T	ITGB3	c.2248C>T	NM_000212.3	NP_000203.2:p.(Arg750Ter)	NC_000017.10:g.45384950C>T	(Likely) pathogenic	1 lab	393aedabe7
5:33463929 TARS1 A>G	5	33463929	33463929	A	G	TARS1	c.1907A>G	NM_152295.5	NP_689508.3:p.(Lys636Arg)	NC_000005.9:g.33463929A>G	VUS	1 lab	393b83286f
22:40666236 TNRC6B A>G	22	40666236	40666236	A	G	TNRC6B	c.2917A>G	NM_001162501.2	NP_001155973.1:p.(Thr973Ala)	NC_000022.10:g.40666236A>G	VUS	1 lab	393be99bd8
1:185934999 HMCN1 G>A	1	185934999	185934999	G	A	HMCN1	c.2164G>A	NM_031935.3	NP_114141.2:p.(Glu722Lys)	NC_000001.10:g.185934999G>A	(Likely) benign	1 lab	393c29839d
2:186620996 FSIP2 G>C	2	186620996	186620996	G	C	FSIP2	c.1069G>C	NM_173651.4	NP_775922.3:p.(Glu357Gln)	NC_000002.11:g.186620996G>C	(Likely) benign	1 lab	393d35b602
22:51117506 SHANK3 C>G	22	51117506	51117506	C	G	SHANK3	c.885C>G	NM_001372044.2	NP_001358973.1:p.(Leu295=)	NC_000022.10:g.51117506C>G	(Likely) benign	1 lab	393d3a03e8
7:16348161 CRPPA G>A	7	16348161	16348161	G	A	CRPPA	c.776C>T	NM_001101426.4	NP_001094896.1:p.(Pro259Leu)	NC_000007.13:g.16348161G>A	(Likely) benign	1 lab	393e9fd499
X:55033693 APEX2 C>T	X	55033693	55033693	C	T	APEX2	c.1382C>T	NM_014481.4	NP_055296.2:p.(Ala461Val)	NC_000023.10:g.55033693C>T	(Likely) benign	1 lab	3941f4d2df
1:76194146 ACADM C>T	1	76194146	76194146	C	T	ACADM	c.91C>T	NM_000016.6	NP_000007.1:p.(Arg31Cys)	NC_000001.10:g.76194146C>T	(Likely) pathogenic	1 lab	3943d518e1
22:24761498 SPECC1L C>T	22	24761498	24761498	C	T	SPECC1L	c.2882C>T	NM_015330.6	NP_056145.5:p.(Ala961Val)	NC_000022.10:g.24761498C>T	(Likely) benign	1 lab	3944c5dcd9
3:52837909 ITIH3 C>A	3	52837909	52837909	C	A	ITIH3	c.1748C>A	NM_002217.4	NP_002208.3:p.(Ala583Asp)	NC_000003.11:g.52837909C>A	VUS	1 lab	3945175ac5
11:47296362 MADD G>C	11	47296362	47296362	G	C	MADD	c.311G>C	NM_001376571.1	NP_001363500.1:p.(Arg104Pro)	NC_000011.9:g.47296362G>C	VUS	1 lab	39452aec13
2:74512931 SLC4A5 C>T	2	74512931	74512931	C	T	SLC4A5	c.370G>A	NM_133478.3	NP_597812.1:p.(Gly124Arg)	NC_000002.11:g.74512931C>T	VUS	1 lab	3955797490
6:39869689 DAAM2 C>T	6	39869689	39869689	C	T	DAAM2	c.3083C>T	NM_001201427.2	NP_001188356.1:p.(Ser1028Leu)	NC_000006.11:g.39869689C>T	VUS	1 lab	395a2d6121
6:31831486 SLC44A4 G>GGCCGGTCCAGGGAGCCGTTGT	6	31831486	31831507	G	GGCCGGTCCAGGGAGCCGTTGT	SLC44A4	c.2030_2050dup	NM_025257.3	NP_079533.2:p.(Arg683_Pro684insHisAsnGlySerLeuAspArg)	NC_000006.11:g.31831487_31831507dup	VUS	1 lab	3946dcf6da
7:151945140 KMT2C C>T	7	151945140	151945140	C	T	KMT2C	c.2379G>A	NM_170606.3	NP_733751.2:p.(Ser793=)	NC_000007.13:g.151945140C>T	VUS	1 lab	3947471cf1
12:79325076 SYT1 A>AG	12	79325076	79325077	A	AG	SYT1	c.-216-46503_-216-46502insG	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79325076_79325077insG	(Likely) benign	1 lab	39484cf8df
5:137753235 KDM3B G>T	5	137753235	137753235	G	T	KDM3B	c.3371G>T	NM_016604.4	NP_057688.3:p.(Cys1124Phe)	NC_000005.9:g.137753235G>T	VUS	1 lab	39485eb3e9
X:99551645 PCDH19 G>T	X	99551645	99551645	G	T	PCDH19	c.3077C>A	NM_001184880.2	NP_001171809.1:p.(Pro1026Gln)	NC_000023.10:g.99551645G>T	(Likely) benign	1 lab	3948948991
X:13637306 EGFL6 A>G	X	13637306	13637306	A	G	EGFL6	c.1127A>G	NM_015507.4	NP_056322.2:p.(Glu376Gly)	NC_000023.10:g.13637306A>G	(Likely) benign	1 lab	394930fb5f
7:45956185 IGFBP3 G>C	7	45956185	45956185	G	C	IGFBP3	c.712C>G	NM_000598.5	NP_000589.2:p.(Pro238Ala)	NC_000007.13:g.45956185G>C	VUS	1 lab	394e7f60d3
6:159134911 SYTL3 G>A	6	159134911	159134911	G	A	SYTL3	c.595+1G>A	NM_001242394.2	NP_001229323.1:p.?	NC_000006.11:g.159134911G>A	VUS	1 lab	39507fbb40
13:96375605 DNAJC3 G>C	13	96375605	96375605	G	C	DNAJC3	c.303G>C	NM_006260.5	NP_006251.1:p.(Lys101Asn)	NC_000013.10:g.96375605G>C	(Likely) benign	1 lab	3950fb64f4
8:17478614 PDGFRL A>G	8	17478614	17478614	A	G	PDGFRL	c.408A>G	NM_001372073.1	NP_001359002.1:p.(Ala136=)	NC_000008.10:g.17478614A>G	(Likely) benign	1 lab	3951a737af
12:132547093 EP400 ACAGCAG>A	12	132547093	132547137	ACAGCAG	A	EP400	c.8220_8225del	NM_015409.5	NP_056224.3:p.(Gln2747_Gln2748del)	NC_000012.11:g.132547132_132547137del	VUS	1 lab	3954947402
11:94759377 KDM4E A>G	11	94759377	94759377	A	G	KDM4E	c.656A>G	NM_001161630.1	NP_001155102.1:p.(His219Arg)	NC_000011.9:g.94759377A>G	(Likely) benign	1 lab	3957617b01
2:97031601 NCAPH GT>G	2	97031601	97031604	GT	G	NCAPH	c.1699-10del	NM_015341.5	NP_056156.2:p.?	NC_000002.11:g.97031604del	VUS	1 lab	395763439e
16:75575299 TMEM231 T>C	16	75575299	75575299	T	C	TMEM231	c.719A>G	NM_001077418.3	NP_001070886.1:p.(Asp240Gly)	NC_000016.9:g.75575299T>C	(Likely) benign	1 lab	3959a8be9f
12:49448504 KMT2D A>T	12	49448504	49448504	A	T	KMT2D	c.207T>A	NM_003482.4	NP_003473.3:p.(Cys69Ter)	NC_000012.11:g.49448504A>T	(Likely) pathogenic	1 lab	395b70e857
3:126708478 PLXNA1 C>T	3	126708478	126708478	C	T	PLXNA1	c.1042C>T	NM_032242.4	NP_115618.3:p.(Arg348Cys)	NC_000003.11:g.126708478C>T	VUS	1 lab	395dcd42d5
18:31325843 ASXL3 A>G	18	31325843	31325843	A	G	ASXL3	c.6031A>G	NM_030632.3	NP_085135.1:p.(Asn2011Asp)	NC_000018.9:g.31325843A>G	(Likely) benign	1 lab	395dfbdc73
16:72984846 ZFHX3 AG>A	16	72984846	72984851	AG	A	ZFHX3	c.2737del	NM_006885.4	NP_008816.3:p.(Leu913Ter)	NC_000016.9:g.72984851del	(Likely) pathogenic	1 lab	395eb6b228
14:65239323 SPTB C>T	14	65239323	65239323	C	T	SPTB	c.5528G>A	NM_001355436.2	NP_001342365.1:p.(Arg1843Gln)	NC_000014.8:g.65239323C>T	(Likely) benign	1 lab	395ec3bb63
18:47488774 MYO5B AT>A	18	47488774	47488775	AT	A	MYO5B	c.1406del	NM_001080467.3	NP_001073936.1:p.(His469LeufsTer11)	NC_000018.9:g.47488775del	VUS	1 lab	395ec5069d
2:170060524 LRP2 A>T	2	170060524	170060524	A	T	LRP2	c.7973T>A	NM_004525.3	NP_004516.2:p.(Phe2658Tyr)	NC_000002.11:g.170060524A>T	VUS	1 lab	395f164941
22:32211132 DEPDC5 A>C	22	32211132	32211132	A	C	DEPDC5	c.1600A>C	NM_001242896.3	NP_001229825.1:p.(Met534Leu)	NC_000022.10:g.32211132A>C	(Likely) benign	1 lab	3960f40ea1
2:166870375 SCN1A T>C	2	166870375	166870375	T	C	SCN1A	c.3584A>G	NM_001165963.4	NP_001159435.1:p.(Asn1195Ser)	NC_000002.11:g.166870375T>C	(Likely) benign	1 lab	1dbfc58537
11:117301610 DSCAML1 G>C	11	117301610	117301610	G	C	DSCAML1	c.5514C>G	NM_020693.4	NP_065744.3:p.(Asp1838Glu)	NC_000011.9:g.117301610G>C	VUS	1 lab	3961418674
16:815776 MSLN G>A	16	815776	815776	G	A	MSLN	c.881G>A	NM_005823.6	NP_005814.2:p.(Arg294Gln)	NC_000016.9:g.815776G>A	VUS	1 lab	3962664e07
X:12939303 TLR8 G>A	X	12939303	12939303	G	A	TLR8	c.2144G>A	NM_138636.5	NP_619542.1:p.(Arg715Gln)	NC_000023.10:g.12939303G>A	(Likely) benign	1 lab	39628346c1
11:85342856 TMEM126B A>ATATCAAATGGC	11	85342856	85342857	A	ATATCAAATGGC	TMEM126B	c.203+4_203+5insTATCAAATGGC	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85342856_85342857insTATCAAATGGC	VUS	1 lab	396398b265
2:241726707 KIF1A G>C	2	241726707	241726707	G	C	KIF1A	c.390C>G	NM_001244008.2	NP_001230937.1:p.(Ile130Met)	NC_000002.11:g.241726707G>C	VUS	1 lab	3963e68b66
15:38614475 SPRED1 A>G	15	38614475	38614475	A	G	SPRED1	c.241A>G	NM_152594.3	NP_689807.1:p.(Ile81Val)	NC_000015.9:g.38614475A>G	(Likely) benign	1 lab	396456423a
16:89351458 ANKRD11 T>TC	16	89351458	89351462	T	TC	ANKRD11	c.1491dup	NM_013275.6	NP_037407.4:p.(Ser498GlufsTer81)	NC_000016.9:g.89351462dup	(Likely) pathogenic	1 lab	3965eca0a6
20:57485086 GNAS A>G	20	57485086	57485086	A	G	GNAS	c.920A>G	NM_000516.7	NP_000507.1:p.(Lys307Arg)	NC_000020.10:g.57485086A>G	VUS	1 lab	3967228b9c
10:76789390 KAT6B T>C	10	76789390	76789390	T	C	KAT6B	c.4808T>C	NM_012330.4	NP_036462.2:p.(Val1603Ala)	NC_000010.10:g.76789390T>C	VUS	1 lab	3967293f69
3:172163032 GHSR G>A	3	172163032	172163032	G	A	GHSR	c.1020C>T	NM_198407.2	NP_940799.1:p.(Phe340=)	NC_000003.11:g.172163032G>A	(Likely) benign	1 lab	39676c644f
6:132207719 ENPP1 G>A	6	132207719	132207719	G	A	ENPP1	c.2462G>A	NM_006208.3	NP_006199.2:p.(Arg821His)	NC_000006.11:g.132207719G>A	(Likely) benign	1 lab	396952966e
13:32914175 BRCA2 G>A	13	32914175	32914175	G	A	BRCA2	c.5683G>A	NM_000059.4	NP_000050.3:p.(Glu1895Lys)	NC_000013.10:g.32914175G>A	(Likely) benign	1 lab	396a06dcdb
3:183442303 YEATS2 GT>G	3	183442303	183442304	GT	G	YEATS2	c.635del	NM_018023.5	NP_060493.3:p.(Val212GlyfsTer66)	NC_000003.11:g.183442304del	VUS	1 lab	396a3755f2
15:49097762 CEP152 C>T	15	49097762	49097762	C	T	CEP152	c.85G>A	NM_001194998.2	NP_001181927.1:p.(Glu29Lys)	NC_000015.9:g.49097762C>T	VUS	1 lab	396abdeb03
12:65153052 GNS C>G	12	65153052	65153052	C	G	GNS	c.5G>C	NM_002076.4	NP_002067.1:p.(Arg2Pro)	NC_000012.11:g.65153052C>G	VUS	1 lab	396bb7d37c
7:44664173 OGDH C>T	7	44664173	44664173	C	T	OGDH	c.222+9C>T	NM_002541.4	NP_002532.2:p.?	NC_000007.13:g.44664173C>T	(Likely) benign	1 lab	396cf17fcb
15:99440019 IGF1R G>A	15	99440019	99440019	G	A	IGF1R	c.987G>A	NM_000875.5	NP_000866.1:p.(Pro329=)	NC_000015.9:g.99440019G>A	(Likely) benign	1 lab	396d7ae47f
15:89381996 ACAN A>T	15	89381996	89381996	A	T	ACAN	c.173A>T	NM_001369268.1	NP_001356197.1:p.(His58Leu)	NC_000015.9:g.89381996A>T	(Likely) benign	1 lab	396e280cc5
16:4951088 PPL G>C	16	4951088	4951088	G	C	PPL	c.441C>G	NM_002705.5	NP_002696.4:p.(Asp147Glu)	NC_000016.9:g.4951088G>C	VUS	1 lab	396ec2bfba
10:89720731 PTEN T>G	10	89720731	89720731	T	G	PTEN	c.882T>G	NM_000314.8	NP_000305.3:p.(Ser294Arg)	NC_000010.10:g.89720731T>G	(Likely) benign	1 lab	3970adeb9b
5:78280750 ARSB C>A	5	78280750	78280750	C	A	ARSB	c.312+10G>T	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78280750C>A	(Likely) benign	1 lab	397382032a
2:216284010 FN1 G>A	2	216284010	216284010	G	A	FN1	c.1774C>T	NM_212482.4	NP_997647.2:p.(Arg592Cys)	NC_000002.11:g.216284010G>A	VUS	1 lab	3973e40069
1:2337978 PEX10 G>A	1	2337978	2337978	G	A	PEX10	c.857C>T	NM_002617.4	NP_002608.1:p.(Thr286Met)	NC_000001.10:g.2337978G>A	VUS	1 lab	3974d69ae6
6:43008369 CUL7 G>C	6	43008369	43008369	G	C	CUL7	c.3922C>G	NM_014780.5	NP_055595.2:p.(Leu1308Val)	NC_000006.11:g.43008369G>C	VUS	1 lab	3974d9f792
14:105416342 AHNAK2 C>A	14	105416342	105416342	C	A	AHNAK2	c.5446G>T	NM_138420.4	NP_612429.2:p.(Val1816Leu)	NC_000014.8:g.105416342C>A	(Likely) benign	1 lab	397645ccef
18:55268925 NARS1 C>T	18	55268925	55268925	C	T	NARS1	c.1606G>A	NM_004539.4	NP_004530.1:p.(Val536Met)	NC_000018.9:g.55268925C>T	VUS	1 lab	3977b530c8
12:7342812 PEX5 G>A	12	7342812	7342812	G	A	PEX5	c.-16-146G>A	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7342812G>A	VUS	1 lab	397809bc18
1:214557849 PTPN14 C>A	1	214557849	214557849	C	A	PTPN14	c.1349G>T	NM_005401.5	NP_005392.2:p.(Arg450Leu)	NC_000001.10:g.214557849C>A	VUS	1 lab	397848c898
7:100410536 EPHB4 C>G	7	100410536	100410536	C	G	EPHB4	c.1951G>C	NM_004444.5	NP_004435.3:p.(Gly651Arg)	NC_000007.13:g.100410536C>G	VUS	1 lab	3978eb29cd
17:27068586 NEK8 C>T	17	27068586	27068586	C	T	NEK8	c.2047C>T	NM_178170.3	NP_835464.1:p.(Arg683Ter)	NC_000017.10:g.27068586C>T	VUS	1 lab	397aecb485
15:99459304 IGF1R G>A	15	99459304	99459304	G	A	IGF1R	c.1940G>A	NM_000875.5	NP_000866.1:p.(Arg647His)	NC_000015.9:g.99459304G>A	(Likely) benign	1 lab	397b30f678
11:17418448 ABCC8 G>A	11	17418448	17418448	G	A	ABCC8	c.4119+15C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17418448G>A	(Likely) benign	1 lab	397ce2c51c
3:55513600 WNT5A G>C	3	55513600	55513600	G	C	WNT5A	c.141-8C>G	NM_003392.7	NP_003383.4:p.?	NC_000003.11:g.55513600G>C	(Likely) benign	1 lab	397d52b1ea
X:135122307 SLC9A6 C>T	X	135122307	135122307	C	T	SLC9A6	c.1734C>T	NM_001379110.1	NP_001366039.1:p.(Ile578=)	NC_000023.10:g.135122307C>T	(Likely) benign	1 lab	397de06e12
2:166786722 TTC21B G>A	2	166786722	166786722	G	A	TTC21B	c.1047C>T	NM_024753.5	NP_079029.3:p.(Thr349=)	NC_000002.11:g.166786722G>A	(Likely) benign	1 lab	33e556e380
11:17544759 USH1C G>C	11	17544759	17544759	G	C	USH1C	c.875C>G	NM_153676.4	NP_710142.1:p.(Ala292Gly)	NC_000011.9:g.17544759G>C	VUS	1 lab	3981667580
X:41200732 DDX3X C>G	X	41200732	41200732	C	G	DDX3X	c.152-5C>G	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41200732C>G	VUS	1 lab	3981ed918a
11:71948605 INPPL1 C>A	11	71948605	71948605	C	A	INPPL1	c.3317C>A	NM_001567.4	NP_001558.3:p.(Ala1106Asp)	NC_000011.9:g.71948605C>A	(Likely) benign	1 lab	398391d7ef
9:713323 KANK1 G>A	9	713323	713323	G	A	KANK1	c.2557G>A	NM_015158.5	NP_055973.2:p.(Gly853Arg)	NC_000009.11:g.713323G>A	VUS	1 lab	39860aeceb
12:39761371 KIF21A A>C	12	39761371	39761371	A	C	KIF21A	c.600+314T>G	NM_001173464.2	NP_001166935.1:p.?	NC_000012.11:g.39761371A>C	(Likely) benign	1 lab	3988e321ee
4:6302771 WFS1 T>A	4	6302771	6302771	T	A	WFS1	c.1249T>A	NM_006005.3	NP_005996.2:p.(Phe417Ile)	NC_000004.11:g.6302771T>A	VUS	1 lab	398b9d23a6
2:182543256 NEUROD1 C>T	2	182543256	182543256	C	T	NEUROD1	c.332G>A	NM_002500.5	NP_002491.3:p.(Arg111Gln)	NC_000002.11:g.182543256C>T	VUS	1 lab	398c176731
17:62018239 SCN4A G>A	17	62018239	62018239	G	A	SCN4A	c.5403C>T	NM_000334.4	NP_000325.4:p.(Ala1801=)	NC_000017.10:g.62018239G>A	(Likely) benign	1 lab	398c3bfaa4
19:49657710 HRC ACATCATCATCATCAT>A	19	49657710	49657753	ACATCATCATCATCAT	A	HRC	c.770_784del	NM_002152.3	NP_002143.1:p.(Asp257_Asp261del)	NC_000019.9:g.49657739_49657753del	VUS	1 lab	398d015c62
7:129946674 CPA4 G>GA	7	129946674	129946678	G	GA	CPA4	c.643dup	NM_016352.4	NP_057436.2:p.(Met215AsnfsTer12)	NC_000007.13:g.129946678dup	(Likely) benign	1 lab	398d20d560
5:149753849 TCOF1 C>G	5	149753849	149753849	C	G	TCOF1	c.983C>G	NM_001371623.1	NP_001358552.1:p.(Ser328Cys)	NC_000005.9:g.149753849C>G	VUS	1 lab	398dd36847
12:116445435 MED13L T>A	12	116445435	116445435	T	A	MED13L	c.2019A>T	NM_015335.5	NP_056150.1:p.(Leu673Phe)	NC_000012.11:g.116445435T>A	(Likely) benign	1 lab	399204a310
2:176829147 LNPK C>T	2	176829147	176829147	C	T	LNPK	c.446G>A	NM_030650.3	NP_085153.1:p.(Cys149Tyr)	NC_000002.11:g.176829147C>T	(Likely) benign	1 lab	39935494b6
11:686895 DEAF1 A>C	11	686895	686895	A	C	DEAF1	c.767T>G	NM_021008.4	NP_066288.2:p.(Ile256Ser)	NC_000011.9:g.686895A>C	(Likely) pathogenic	1 lab	399378c948
8:48883214 MCM4 C>T	8	48883214	48883214	C	T	MCM4	c.1578C>T	NM_182746.3	NP_877423.1:p.(Leu526=)	NC_000008.10:g.48883214C>T	(Likely) benign	1 lab	399469822e
9:129456132 LMX1B G>A	9	129456132	129456132	G	A	LMX1B	c.886+41G>A	NM_001174147.2	NP_001167618.1:p.?	NC_000009.11:g.129456132G>A	(Likely) benign	1 lab	39948299d1
9:119460425 ASTN2 C>T	9	119460425	119460425	C	T	ASTN2	c.2806+27625G>A	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460425C>T	(Likely) benign	1 lab	399526016b
9:119188218 ASTN2 T>C	9	119188218	119188218	T	C	ASTN2	c.3932A>G	NM_001365068.1	NP_001351997.1:p.(Tyr1311Cys)	NC_000009.11:g.119188218T>C	VUS	1 lab	3995ec8306
X:109694633 RTL9 C>T	X	109694633	109694633	C	T	RTL9	c.788C>T	NM_001385449.1	NP_001372378.1:p.(Thr263Met)	NC_000023.10:g.109694633C>T	(Likely) benign	1 lab	399700d986
14:51378885 PYGL G>A	14	51378885	51378885	G	A	PYGL	c.1757C>T	NM_002863.5	NP_002854.3:p.(Thr586Met)	NC_000014.8:g.51378885G>A	VUS	1 lab	399718e871
22:31359323 MORC2 G>A	22	31359323	31359323	G	A	MORC2	c.68+4485C>T	NM_001303256.3	NP_001290185.1:p.?	NC_000022.10:g.31359323G>A	(Likely) benign	1 lab	3998350549
7:45954540 IGFBP3 C>T	7	45954540	45954540	C	T	IGFBP3	c.755G>A	NM_000598.5	NP_000589.2:p.(Arg252His)	NC_000007.13:g.45954540C>T	VUS	1 lab	399b889ea5
14:24789068 ADCY4 G>A	14	24789068	24789068	G	A	ADCY4	c.2613C>T	NM_001198568.2	NP_001185497.1:p.(Cys871=)	NC_000014.8:g.24789068G>A	(Likely) benign	1 lab	399ba49a80
12:102813346 IGF1 C>T	12	102813346	102813346	C	T	IGF1	c.343G>A	NM_000618.5	NP_000609.1:p.(Ala115Thr)	NC_000012.11:g.102813346C>T	(Likely) benign	1 lab	39a142c66e
1:22216581 HSPG2 G>A	1	22216581	22216581	G	A	HSPG2	c.467C>T	NM_005529.7	NP_005520.4:p.(Ala156Val)	NC_000001.10:g.22216581G>A	(Likely) benign	1 lab	39a1683a9b
21:44836759 SIK1 T>G	21	44836759	44836759	T	G	SIK1	c.2215A>C	NM_173354.5	NP_775490.2:p.(Thr739Pro)	NC_000021.8:g.44836759T>G	(Likely) benign	1 lab	39a29d1d73
8:118831973 EXT1 T>TGA	8	118831973	118831979	T	TGA	EXT1	c.1476_1477dup	NM_000127.3	NP_000118.2:p.(Gln493LeufsTer7)	NC_000008.10:g.118831978_118831979dup	(Likely) pathogenic	1 lab	39a3ecec88
2:202358186 CATSPERT C>T	2	202358186	202358186	C	T	CATSPERT	c.2878G>A	NM_001168221.2	NP_001161693.1:p.(Gly960Ser)	NC_000002.11:g.202358186C>T	(Likely) benign	1 lab	39a449948e
3:156979071 VEPH1 G>A	3	156979071	156979071	G	A	VEPH1	c.2354C>T	NM_001167912.2	NP_001161384.1:p.(Pro785Leu)	NC_000003.11:g.156979071G>A	(Likely) benign	1 lab	39a44e590c
5:74807275 CERT1 C>T	5	74807275	74807275	C	T	CERT1	c.-243G>A	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74807275C>T	(Likely) benign	1 lab	39a516a0fe
20:60902965 LAMA5 G>A	20	60902965	60902965	G	A	LAMA5	c.4754C>T	NM_005560.6	NP_005551.3:p.(Ala1585Val)	NC_000020.10:g.60902965G>A	(Likely) benign	1 lab	39ad8b926f
16:90000347 TUBB3 T>G	16	90000347	90000347	T	G	TUBB3	c.277+361T>G	NM_006086.4	NP_006077.2:p.?	NC_000016.9:g.90000347T>G	(Likely) benign	1 lab	39aef0990b
X:141290950 MAGEC2 G>C	X	141290950	141290950	G	C	MAGEC2	c.824C>G	NM_016249.4	NP_057333.1:p.(Thr275Ser)	NC_000023.10:g.141290950G>C	(Likely) benign	1 lab	39afd7d22e
1:156105782 LMNA C>T	1	156105782	156105782	C	T	LMNA	c.1027C>T	NM_170707.4	NP_733821.1:p.(Arg343Trp)	NC_000001.10:g.156105782C>T	VUS	1 lab	39b27dd3fc
5:147498011 SPINK5 T>C	5	147498011	147498011	T	C	SPINK5	c.2124T>C	NM_001127698.2	NP_001121170.1:p.(Ala708=)	NC_000005.9:g.147498011T>C	(Likely) benign	1 lab	1e37898230
3:23960943 RPL15 G>A	3	23960943	23960943	G	A	RPL15	c.566G>A	NM_002948.5	NP_002939.2:p.(Arg189Gln)	NC_000003.11:g.23960943G>A	(Likely) benign	1 lab	39b46fd755
X:46696543 RP2 G>C	X	46696543	46696543	G	C	RP2	c.8G>C	NM_006915.3	NP_008846.2:p.(Cys3Ser)	NC_000023.10:g.46696543G>C	(Likely) pathogenic	1 lab	39b554ae41
15:48796067 FBN1 G>C	15	48796067	48796067	G	C	FBN1	c.2030C>G	NM_000138.5	NP_000129.3:p.(Ala677Gly)	NC_000015.9:g.48796067G>C	VUS	1 lab	39b63e37f4
3:47163845 SETD2 T>A	3	47163845	47163845	T	A	SETD2	c.2281A>T	NM_014159.7	NP_054878.5:p.(Met761Leu)	NC_000003.11:g.47163845T>A	VUS	1 lab	39b923193e
17:36099482 HNF1B G>A	17	36099482	36099482	G	A	HNF1B	c.493C>T	NM_000458.4	NP_000449.1:p.(Arg165Cys)	NC_000017.10:g.36099482G>A	(Likely) pathogenic	1 lab	39b9f75c6a
5:153065878 GRIA1 G>A	5	153065878	153065878	G	A	GRIA1	c.1123G>A	NM_000827.4	NP_000818.2:p.(Gly375Ser)	NC_000005.9:g.153065878G>A	(Likely) benign	1 lab	39ba72ccb6
7:23191833 KLHL7 C>A	7	23191833	23191833	C	A	KLHL7	c.936+5C>A	NM_001031710.3	NP_001026880.2:p.?	NC_000007.13:g.23191833C>A	(Likely) benign	1 lab	39babdeff6
17:57058042 PPM1E T>C	17	57058042	57058042	T	C	PPM1E	c.1918T>C	NM_014906.5	NP_055721.3:p.(Tyr640His)	NC_000017.10:g.57058042T>C	(Likely) benign	1 lab	39c0c52e0f
X:54282297 WNK3 G>A	X	54282297	54282297	G	A	WNK3	c.2126C>T	NM_020922.5	NP_065973.2:p.(Thr709Met)	NC_000023.10:g.54282297G>A	(Likely) benign	1 lab	39c21c7523
X:73812707 RLIM C>T	X	73812707	73812707	C	T	RLIM	c.443G>A	NM_016120.4	NP_057204.2:p.(Gly148Glu)	NC_000023.10:g.73812707C>T	VUS	1 lab	39c31b11bc
1:151378078 POGZ TCTC>T	1	151378078	151378083	TCTC	T	POGZ	c.3430_3432del	NM_015100.4	NP_055915.2:p.(Glu1144del)	NC_000001.10:g.151378081_151378083del	VUS	1 lab	39c4214d7d
1:176760499 PAPPA2 C>T	1	176760499	176760499	C	T	PAPPA2	c.4901C>T	NM_020318.3	NP_064714.2:p.(Thr1634Ile)	NC_000001.10:g.176760499C>T	VUS	1 lab	39c533ee97
X:13775865 OFD1 T>C	X	13775865	13775865	T	C	OFD1	c.1498T>C	NM_003611.3	NP_003602.1:p.(Phe500Leu)	NC_000023.10:g.13775865T>C	VUS	1 lab	39c6d51ffd
5:131247553 MEIKIN G>C	5	131247553	131247553	G	C	MEIKIN	c.658C>G	NM_001303622.2	NP_001290551.1:p.(Gln220Glu)	NC_000005.9:g.131247553G>C	VUS	1 lab	39c72d96f6
8:92090593 OTUD6B G>A	8	92090593	92090593	G	A	OTUD6B	c.325G>A	NM_016023.5	NP_057107.4:p.(Ala109Thr)	NC_000008.10:g.92090593G>A	(Likely) benign	1 lab	39c788fadc
16:68386226 PRMT7 C>T	16	68386226	68386226	C	T	PRMT7	c.1489C>T	NM_019023.5	NP_061896.1:p.(Arg497Trp)	NC_000016.9:g.68386226C>T	VUS	1 lab	39c7a72c39
12:416685 KDM5A G>A	12	416685	416685	G	A	KDM5A	c.3865C>T	NM_001042603.3	NP_001036068.1:p.(Arg1289Ter)	NC_000012.11:g.416685G>A	VUS	1 lab	39c86e4a2f
15:75189863 MPI C>G	15	75189863	75189863	C	G	MPI	c.1064C>G	NM_002435.3	NP_002426.1:p.(Ser355Cys)	NC_000015.9:g.75189863C>G	VUS	1 lab	39c929ab50
X:78427369 GPR174 C>G	X	78427369	78427369	C	G	GPR174	c.865C>G	NM_032553.3	NP_115942.1:p.(Pro289Ala)	NC_000023.10:g.78427369C>G	VUS	1 lab	39cac08117
21:33706477 URB1 G>T	21	33706477	33706477	G	T	URB1	c.4852C>A	NM_014825.3	NP_055640.2:p.(Pro1618Thr)	NC_000021.8:g.33706477G>T	VUS	1 lab	39ccba49c9
16:1396909 BAIAP3 C>T	16	1396909	1396909	C	T	BAIAP3	c.2704C>T	NM_001199097.2	NP_001186026.1:p.(Arg902Cys)	NC_000016.9:g.1396909C>T	(Likely) benign	1 lab	39ce1c7072
1:156085062 LMNA C>T	1	156085062	156085062	C	T	LMNA	c.353C>T	NM_170707.4	NP_733821.1:p.(Ala118Val)	NC_000001.10:g.156085062C>T	VUS	1 lab	39ce752f41
17:7748630 KDM6B A>G	17	7748630	7748630	A	G	KDM6B	c.-148-2A>G	NM_001080424.2	NP_001073893.1:p.?	NC_000017.10:g.7748630A>G	VUS	1 lab	1dc9d8b52d
17:73974748 ACOX1 A>T	17	73974748	73974748	A	T	ACOX1	c.136T>A	NM_004035.7	NP_004026.2:p.(Phe46Ile)	NC_000017.10:g.73974748A>T	(Likely) benign	1 lab	39d1a218c9
16:67645958 CTCF T>G	16	67645958	67645958	T	G	CTCF	c.886T>G	NM_006565.4	NP_006556.1:p.(Cys296Gly)	NC_000016.9:g.67645958T>G	(Likely) pathogenic	1 lab	39d3e38675
19:29703901 UQCRFS1 A>T	19	29703901	29703901	A	T	UQCRFS1	c.125T>A	NM_006003.3	NP_005994.2:p.(Val42Glu)	NC_000019.9:g.29703901A>T	(Likely) benign	1 lab	39d466bc24
X:140993965 MAGEC1 A>G	X	140993965	140993965	A	G	MAGEC1	c.775A>G	NM_005462.5	NP_005453.2:p.(Thr259Ala)	NC_000023.10:g.140993965A>G	(Likely) benign	1 lab	39d4868977
13:110960165 COL4A2 T>A	13	110960165	110960165	T	A	COL4A2	c.-44-42T>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.110960165T>A	(Likely) benign	1 lab	39d4fbfcd2
X:119760411 C1GALT1C1 G>A	X	119760411	119760411	G	A	C1GALT1C1	c.611C>T	NM_001011551.3	NP_001011551.1:p.(Pro204Leu)	NC_000023.10:g.119760411G>A	(Likely) benign	1 lab	39d5f283e8
8:101620761 SNX31 C>T	8	101620761	101620761	C	T	SNX31	c.642G>A	NM_152628.4	NP_689841.3:p.(Leu214=)	NC_000008.10:g.101620761C>T	VUS	1 lab	39d71f3d25
19:10671694 KRI1 A>C	19	10671694	10671694	A	C	KRI1	c.648T>G	NM_023008.5	NP_075384.4:p.(Asp216Glu)	NC_000019.9:g.10671694A>C	VUS	1 lab	39d78e417a
6:5267764 FARS2 A>T	6	5267764	5267764	A	T	FARS2	c.-22+5871A>T	NM_006567.5	NP_006558.1:p.?	NC_000006.11:g.5267764A>T	(Likely) benign	1 lab	39d8533a71
19:1467667 APC2 G>C	19	1467667	1467667	G	C	APC2	c.4367G>C	NM_005883.3	NP_005874.1:p.(Arg1456Pro)	NC_000019.9:g.1467667G>C	(Likely) benign	1 lab	39d8851201
18:19780748 GATA6 G>A	18	19780748	19780748	G	A	GATA6	c.1750G>A	NM_005257.6	NP_005248.2:p.(Val584Met)	NC_000018.9:g.19780748G>A	VUS	1 lab	39d8c7b4b2
18:55342158 ATP8B1 G>T	18	55342158	55342158	G	T	ATP8B1	c.1727C>A	NM_001374385.1	NP_001361314.1:p.(Thr576Asn)	NC_000018.9:g.55342158G>T	VUS	1 lab	39d8d61b5d
6:144999719 UTRN G>T	6	144999719	144999719	G	T	UTRN	c.7652+5G>T	NM_007124.3	NP_009055.2:p.?	NC_000006.11:g.144999719G>T	VUS	1 lab	39d92e78f6
14:105179626 INF2 G>A	14	105179626	105179626	G	A	INF2	c.2858G>A	NM_022489.3	NP_071934.3:p.(Arg953Gln)	NC_000014.8:g.105179626G>A	(Likely) benign	1 lab	33e61ac9b2
16:88872020 CDT1 C>T	16	88872020	88872020	C	T	CDT1	c.661C>T	NM_030928.4	NP_112190.2:p.(Arg221Trp)	NC_000016.9:g.88872020C>T	VUS	1 lab	39db6e157c
8:68071240 CSPP1 TGAA>T	8	68071240	68071245	TGAA	T	CSPP1	c.2409_2411del	NM_001382391.1	NP_001369320.1:p.(Glu804del)	NC_000008.10:g.68071243_68071245del	VUS	1 lab	39dbc20052
8:37996506 ASH2L G>A	8	37996506	37996506	G	A	ASH2L	c.1804G>A	NM_004674.5	NP_004665.2:p.(Val602Met)	NC_000008.10:g.37996506G>A	(Likely) benign	1 lab	39dc26c0fc
6:82461742 TENT5A GCCGCCGAAGTCGC>G	6	82461742	82461756	GCCGCCGAAGTCGC	G	TENT5A	c.104_116del	NM_017633.3	NP_060103.2:p.(Gly35AlafsTer28)	NC_000006.11:g.82461744_82461756del	VUS	1 lab	39dcda6548
1:55279486 CIMAP2 G>GA	1	55279486	55279494	G	GA	CIMAP2	c.770dup	NM_001110533.2	NP_001104003.1:p.(Pro258AlafsTer15)	NC_000001.10:g.55279494dup	(Likely) benign	1 lab	39e00cf709
14:68219126 ZFYVE26 C>T	14	68219126	68219126	C	T	ZFYVE26	c.7306G>A	NM_015346.4	NP_056161.2:p.(Ala2436Thr)	NC_000014.8:g.68219126C>T	(Likely) benign	1 lab	39e0d3b172
10:135112923 TUBGCP2 C>T	10	135112923	135112923	C	T	TUBGCP2	c.456+8G>A	NM_006659.4	NP_006650.1:p.?	NC_000010.10:g.135112923C>T	(Likely) benign	1 lab	39e154200a
9:119028233 PAPPA A>C	9	119028233	119028233	A	C	PAPPA	c.2830A>C	NM_002581.5	NP_002572.2:p.(Ser944Arg)	NC_000009.11:g.119028233A>C	(Likely) benign	1 lab	39e2868ad5
10:76784742 KAT6B G>C	10	76784742	76784742	G	C	KAT6B	c.3399G>C	NM_012330.4	NP_036462.2:p.(Arg1133Ser)	NC_000010.10:g.76784742G>C	VUS	1 lab	39e4f477e6
15:41388481 INO80 C>G	15	41388481	41388481	C	G	INO80	c.28G>C	NM_017553.3	NP_060023.1:p.(Asp10His)	NC_000015.9:g.41388481C>G	VUS	1 lab	1dcba49cc6
11:118889889 TRAPPC4 T>G	11	118889889	118889889	T	G	TRAPPC4	c.212T>G	NM_016146.6	NP_057230.1:p.(Val71Gly)	NC_000011.9:g.118889889T>G	VUS	1 lab	39e77a33dd
19:13218611 TRMT1 T>C	19	13218611	13218611	T	C	TRMT1	c.1460A>G	NM_001136035.4	NP_001129507.1:p.(Lys487Arg)	NC_000019.9:g.13218611T>C	VUS	1 lab	39ea22179e
19:18893847 COMP G>A	19	18893847	18893847	G	A	COMP	c.2227+17C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18893847G>A	(Likely) benign	1 lab	39ea2b8d82
9:35681020 CA9 T>C	9	35681020	35681020	T	C	CA9	c.1378T>C	NM_001216.3	NP_001207.2:p.(Ter460GlnextTer15)	NC_000009.11:g.35681020T>C	VUS	1 lab	39eb22e3a5
15:93555628 CHD2 A>G	15	93555628	93555628	A	G	CHD2	c.4646A>G	NM_001271.4	NP_001262.3:p.(His1549Arg)	NC_000015.9:g.93555628A>G	VUS	1 lab	39eb295d35
6:43020213 CUL7 G>A	6	43020213	43020213	G	A	CUL7	c.314C>T	NM_014780.5	NP_055595.2:p.(Ser105Phe)	NC_000006.11:g.43020213G>A	VUS	1 lab	39ec0cc615
3:153972505 ARHGEF26 T>G	3	153972505	153972505	T	G	ARHGEF26	c.2369-4T>G	NM_015595.4	NP_056410.3:p.?	NC_000003.11:g.153972505T>G	(Likely) benign	1 lab	39ec7426af
3:12641914 RAF1 C>T	3	12641914	12641914	C	T	RAF1	c.835G>A	NM_002880.4	NP_002871.1:p.(Asp279Asn)	NC_000003.11:g.12641914C>T	VUS	1 lab	39edc26b9f
4:1803390 FGFR3 C>T	4	1803390	1803390	C	T	FGFR3	c.659C>T	NM_000142.5	NP_000133.1:p.(Pro220Leu)	NC_000004.11:g.1803390C>T	VUS	1 lab	39eeb61e98
X:77244137 ATP7A A>C	X	77244137	77244137	A	C	ATP7A	c.520A>C	NM_000052.7	NP_000043.4:p.(Lys174Gln)	NC_000023.10:g.77244137A>C	VUS	1 lab	39f088eb15
3:197678095 RPL35A CTCT>C	3	197678095	197678102	CTCT	C	RPL35A	c.82_84del	NM_000996.4	NP_000987.2:p.(Leu28del)	NC_000003.11:g.197678100_197678102del	(Likely) pathogenic	1 lab	39f0f23cb3
13:32811805 FRY A>G	13	32811805	32811805	A	G	FRY	c.6100A>G	NM_023037.3	NP_075463.2:p.(Ile2034Val)	NC_000013.10:g.32811805A>G	VUS	1 lab	1dccca7728
16:2158233 PKD1 C>T	16	2158233	2158233	C	T	PKD1	c.6915+20G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2158233C>T	(Likely) benign	1 lab	39f52024ad
4:190989199 MISSING GC>G	4	190989199	190989200	GC	G	MISSING				NC_000004.11:g.190989200del	(Likely) benign	1 lab	39f5d5fdc2
8:97797450 CPQ A>T	8	97797450	97797450	A	T	CPQ	c.325A>T	NM_016134.4	NP_057218.1:p.(Arg109Ter)	NC_000008.10:g.97797450A>T	VUS	1 lab	3b61a31821
2:152404218 NEB T>A	2	152404218	152404218	T	A	NEB	c.20192A>T	NM_001164508.2	NP_001157980.2:p.(Asp6731Val)	NC_000002.11:g.152404218T>A	(Likely) benign	1 lab	39f7ec49b5
18:20573243 RBBP8 T>C	18	20573243	20573243	T	C	RBBP8	c.1453T>C	NM_002894.3	NP_002885.1:p.(Cys485Arg)	NC_000018.9:g.20573243T>C	(Likely) benign	1 lab	39fa57a595
22:51160715 SHANK3 G>C	22	51160715	51160715	G	C	SHANK3	c.4679G>C	NM_001372044.2	NP_001358973.1:p.(Gly1560Ala)	NC_000022.10:g.51160715G>C	VUS	1 lab	39fac077b3
20:50400935 SALL4 C>T	20	50400935	50400935	C	T	SALL4	c.3031G>A	NM_020436.5	NP_065169.1:p.(Ala1011Thr)	NC_000020.10:g.50400935C>T	(Likely) benign	1 lab	39fc8482c0
1:120468352 NOTCH2 C>T	1	120468352	120468352	C	T	NOTCH2	c.4087G>A	NM_024408.4	NP_077719.2:p.(Gly1363Arg)	NC_000001.10:g.120468352C>T	VUS	1 lab	39fd116642
7:150767059 SLC4A2 G>A	7	150767059	150767059	G	A	SLC4A2	c.1173G>A	NM_003040.4	NP_003031.3:p.(Gln391=)	NC_000007.13:g.150767059G>A	(Likely) benign	1 lab	39fd8e1410
1:8418541 RERE C>T	1	8418541	8418541	C	T	RERE	c.4054G>A	NM_012102.4	NP_036234.3:p.(Ala1352Thr)	NC_000001.10:g.8418541C>T	(Likely) benign	1 lab	1dce356684
9:43628679 SPATA31A6 G>A	9	43628679	43628679	G	A	SPATA31A6	c.263C>T	NM_001145196.1	NP_001138668.1:p.(Pro88Leu)	NC_000009.11:g.43628679G>A	(Likely) benign	1 lab	39ff9746ce
1:1275200 DVL1 G>A	1	1275200	1275200	G	A	DVL1	c.910-8C>T	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1275200G>A	(Likely) benign	1 lab	3a0049e826
15:89758338 RLBP1 G>T	15	89758338	89758338	G	T	RLBP1	c.478C>A	NM_000326.5	NP_000317.1:p.(Leu160Ile)	NC_000015.9:g.89758338G>T	VUS	1 lab	3a015ef4ab
3:113503082 ATP6V1A G>T	3	113503082	113503082	G	T	ATP6V1A	c.223G>T	NM_001690.4	NP_001681.2:p.(Val75Phe)	NC_000003.11:g.113503082G>T	VUS	1 lab	3a0436ac26
12:109972445 UBE3B G>A	12	109972445	109972445	G	A	UBE3B	c.3065G>A	NM_130466.4	NP_569733.2:p.(Arg1022His)	NC_000012.11:g.109972445G>A	VUS	1 lab	3a069783f3
2:27427649 SLC5A6 C>T	2	27427649	27427649	C	T	SLC5A6	c.875+10G>A	NM_021095.4	NP_066918.2:p.?	NC_000002.11:g.27427649C>T	VUS	1 lab	3a08145310
15:33359976 FMN1 G>T	15	33359976	33359976	G	T	FMN1	c.2044-2701C>A	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33359976G>T	(Likely) benign	1 lab	3a08f90d80
12:112631292 HECTD4 T>C	12	112631292	112631292	T	C	HECTD4	c.8936A>G	NM_001388303.1	NP_001375232.1:p.(Gln2979Arg)	NC_000012.11:g.112631292T>C	(Likely) benign	1 lab	3a0b137983
9:14846073 FREM1 C>G	9	14846073	14846073	C	G	FREM1	c.1278G>C	NM_001379081.2	NP_001366010.1:p.(Glu426Asp)	NC_000009.11:g.14846073C>G	VUS	1 lab	3a0d10dac1
17:32684537 CCL13 TAAG>T	17	32684537	32684544	TAAG	T	CCL13	c.125_127del	NM_005408.3	NP_005399.1:p.(Lys42del)	NC_000017.10:g.32684542_32684544del	(Likely) benign	1 lab	3a0dff13d9
17:33513429 UNC45B G>A	17	33513429	33513429	G	A	UNC45B	c.2641G>A	NM_001267052.2	NP_001253981.1:p.(Ala881Thr)	NC_000017.10:g.33513429G>A	VUS	1 lab	3a0e37b579
2:197639900 GTF3C3 C>A	2	197639900	197639900	C	A	GTF3C3	c.1771G>T	NM_012086.5	NP_036218.1:p.(Val591Leu)	NC_000002.11:g.197639900C>A	VUS	1 lab	3a0f2259e9
8:38005840 STAR G>A	8	38005840	38005840	G	A	STAR	c.184C>T	NM_000349.3	NP_000340.2:p.(Arg62Trp)	NC_000008.10:g.38005840G>A	VUS	1 lab	3a0ffe9876
X:16876800 RBBP7 T>C	X	16876800	16876800	T	C	RBBP7	c.480A>G	NM_002893.4	NP_002884.1:p.(Pro160=)	NC_000023.10:g.16876800T>C	(Likely) benign	1 lab	3a109eed6b
11:684947 DEAF1 G>A	11	684947	684947	G	A	DEAF1	c.821C>T	NM_021008.4	NP_066288.2:p.(Pro274Leu)	NC_000011.9:g.684947G>A	VUS	1 lab	3a13f36f90
4:128626963 INTU G>C	4	128626963	128626963	G	C	INTU	c.1784G>C	NM_015693.4	NP_056508.2:p.(Gly595Ala)	NC_000004.11:g.128626963G>C	VUS	1 lab	3a145646bb
19:13318521 CACNA1A C>T	19	13318521	13318521	C	T	CACNA1A	c.7127G>A	NM_001127222.2	NP_001120694.1:p.(Arg2376Gln)	NC_000019.9:g.13318521C>T	VUS	1 lab	3a1559fc33
3:64619415 ADAMTS9 C>G	3	64619415	64619415	C	G	ADAMTS9	c.1997G>C	NM_182920.2	NP_891550.1:p.(Gly666Ala)	NC_000003.11:g.64619415C>G	VUS	1 lab	3a17a27f33
11:1471010 BRSK2 C>T	11	1471010	1471010	C	T	BRSK2	c.1231C>T	NM_001256627.2	NP_001243556.1:p.(Arg411Trp)	NC_000011.9:g.1471010C>T	(Likely) benign	1 lab	3a182eb9f7
X:48244823 SSX4 C>T	X	48244823	48244823	C	T	SSX4	c.214C>T	NM_005636.4	NP_005627.1:p.(Arg72Cys)	NC_000023.10:g.48244823C>T	(Likely) benign	1 lab	3a191616eb
16:23646490 PALB2 G>T	16	23646490	23646490	G	T	PALB2	c.1377C>A	NM_024675.4	NP_078951.2:p.(Asp459Glu)	NC_000016.9:g.23646490G>T	VUS	1 lab	3a1a005539
17:15929927 TTC19 T>C	17	15929927	15929927	T	C	TTC19	c.905T>C	NM_017775.4	NP_060245.3:p.(Met302Thr)	NC_000017.10:g.15929927T>C	VUS	1 lab	3a1b49e8a4
4:103611851 MANBA C>T	4	103611851	103611851	C	T	MANBA	c.751G>A	NM_005908.4	NP_005899.3:p.(Val251Met)	NC_000004.11:g.103611851C>T	VUS	1 lab	3a1b984c10
X:53577735 HUWE1 A>G	X	53577735	53577735	A	G	HUWE1	c.9386-6T>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53577735A>G	(Likely) benign	1 lab	3a1e29c5c6
X:19049153 ADGRG2 C>T	X	19049153	19049153	C	T	ADGRG2	c.307G>A	NM_001079858.3	NP_001073327.1:p.(Val103Ile)	NC_000023.10:g.19049153C>T	VUS	1 lab	3a1e6c3dae
1:155448805 ASH1L C>T	1	155448805	155448805	C	T	ASH1L	c.3856G>A	NM_018489.3	NP_060959.2:p.(Asp1286Asn)	NC_000001.10:g.155448805C>T	(Likely) benign	1 lab	3a210837f7
4:57366727 SRP72 A>G	4	57366727	57366727	A	G	SRP72	c.1704A>G	NM_006947.4	NP_008878.3:p.(Pro568=)	NC_000004.11:g.57366727A>G	(Likely) benign	1 lab	3a23e0fa6f
6:7231796 RREB1 G>A	6	7231796	7231796	G	A	RREB1	c.3464G>A	NM_001003699.4	NP_001003699.1:p.(Arg1155Gln)	NC_000006.11:g.7231796G>A	(Likely) benign	1 lab	3a246906e3
11:1862295 TNNI2 G>T	11	1862295	1862295	G	T	TNNI2	c.311G>T	NM_003282.4	NP_003273.1:p.(Arg104Leu)	NC_000011.9:g.1862295G>T	VUS	1 lab	3a250bd6f7
13:20656152 ZMYM2 A>T	13	20656152	20656152	A	T	ZMYM2	c.3454-4A>T	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20656152A>T	(Likely) benign	1 lab	3a260ded63
16:89849262 FANCA A>T	16	89849262	89849262	A	T	FANCA	c.1626+5T>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89849262A>T	(Likely) benign	1 lab	3a263bdba7
3:173322657 NLGN1 C>T	3	173322657	173322657	C	T	NLGN1	c.269C>T	NM_001365925.2	NP_001352854.1:p.(Thr90Ile)	NC_000003.11:g.173322657C>T	VUS	1 lab	3a271e40d4
5:140957053 DIAPH1 G>C	5	140957053	140957053	G	C	DIAPH1	c.1269C>G	NM_005219.5	NP_005210.3:p.(Asp423Glu)	NC_000005.9:g.140957053G>C	VUS	1 lab	3a27dfcb2e
X:24329179 SUPT20HL2 G>A	X	24329179	24329179	G	A	SUPT20HL2	c.2254C>T	NM_001136233.3	NP_001129705.3:p.(Pro752Ser)	NC_000023.10:g.24329179G>A	VUS	1 lab	3a29ed16ba
1:39305386 RRAGC G>A	1	39305386	39305386	G	A	RRAGC	c.1049-10C>T	NM_022157.4	NP_071440.1:p.?	NC_000001.10:g.39305386G>A	(Likely) benign	1 lab	3a2a088dc8
7:73457313 ELN G>A	7	73457313	73457313	G	A	ELN	c.326-1G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73457313G>A	VUS	1 lab	3a2a239b90
14:64580061 SYNE2 C>T	14	64580061	64580061	C	T	SYNE2	c.12612C>T	NM_182914.3	NP_878918.2:p.(Gly4204=)	NC_000014.8:g.64580061C>T	VUS	1 lab	3a2a73f108
2:209110054 IDH1 T>C	2	209110054	209110054	T	C	IDH1	c.509A>G	NM_005896.4	NP_005887.2:p.(His170Arg)	NC_000002.11:g.209110054T>C	VUS	1 lab	3a2b627835
8:100832312 VPS13B G>T	8	100832312	100832312	G	T	VPS13B	c.8956G>T	NM_152564.5	NP_689777.3:p.(Val2986Phe)	NC_000008.10:g.100832312G>T	VUS	1 lab	3a2eba6ae3
8:145002046 PLEC G>C	8	145002046	145002046	G	C	PLEC	c.3375C>G	NM_201384.3	NP_958786.1:p.(Leu1125=)	NC_000008.10:g.145002046G>C	(Likely) benign	1 lab	3a2eea7e05
2:179576069 TTN T>G	2	179576069	179576069	T	G	TTN	c.27894A>C	NM_001267550.2	NP_001254479.2:p.(Lys9298Asn)	NC_000002.11:g.179576069T>G	VUS	1 lab	3a302057bf
17:41244607 BRCA1 GT>G	17	41244607	41244608	GT	G	BRCA1	c.2940del	NM_007294.4	NP_009225.1:p.(Pro981HisfsTer19)	NC_000017.10:g.41244608del	(Likely) pathogenic	1 lab	3a3196fd28
17:1381755 MYO1C G>A	17	1381755	1381755	G	A	MYO1C	c.1244C>T	NM_001080779.2	NP_001074248.1:p.(Thr415Met)	NC_000017.10:g.1381755G>A	VUS	1 lab	3a31dcf91f
19:622373 POLRMT C>A	19	622373	622373	C	A	POLRMT	c.1627G>T	NM_005035.4	NP_005026.3:p.(Val543Leu)	NC_000019.9:g.622373C>A	VUS	1 lab	3a34ce21a1
1:94650878 ARHGAP29 C>G	1	94650878	94650878	C	G	ARHGAP29	c.1920+20G>C	NM_004815.4	NP_004806.3:p.?	NC_000001.10:g.94650878C>G	(Likely) benign	1 lab	1e420e6933
11:47431907 SLC39A13 G>A	11	47431907	47431907	G	A	SLC39A13	c.262G>A	NM_001128225.3	NP_001121697.2:p.(Val88Ile)	NC_000011.9:g.47431907G>A	(Likely) benign	1 lab	3a37eec800
10:103906713 PPRC1 A>C	10	103906713	103906713	A	C	PPRC1	c.3964A>C	NM_015062.5	NP_055877.3:p.(Asn1322His)	NC_000010.10:g.103906713A>C	VUS	1 lab	3a3889ea3f
20:43048430 HNF4A T>C	20	43048430	43048430	T	C	HNF4A	c.806T>C	NM_000457.5	NP_000448.3:p.(Leu269Pro)	NC_000020.10:g.43048430T>C	(Likely) pathogenic	1 lab	3a39d190e1
11:299420 IFITM5 A>AG	11	299420	299423	A	AG	IFITM5	c.70dup	NM_001025295.3	NP_001020466.1:p.(Leu24ProfsTer48)	NC_000011.9:g.299423dup	VUS	1 lab	3a3ae83e75
11:6579496 DNHD1 C>T	11	6579496	6579496	C	T	DNHD1	c.8971C>T	NM_144666.3	NP_653267.2:p.(Gln2991Ter)	NC_000011.9:g.6579496C>T	VUS	1 lab	3a3c914fc2
17:66533733 FAM20A G>A	17	66533733	66533733	G	A	FAM20A	c.1511C>T	NM_017565.4	NP_060035.2:p.(Thr504Ile)	NC_000017.10:g.66533733G>A	(Likely) benign	1 lab	3a40eea622
11:108139154 ATM G>T	11	108139154	108139154	G	T	ATM	c.2656G>T	NM_000051.4	NP_000042.3:p.(Ala886Ser)	NC_000011.9:g.108139154G>T	VUS	1 lab	3a41a9bb90
16:72821920 ZFHX3 G>T	16	72821920	72821920	G	T	ZFHX3	c.10255C>A	NM_006885.4	NP_008816.3:p.(Pro3419Thr)	NC_000016.9:g.72821920G>T	(Likely) benign	1 lab	3a42440d38
19:1108963 SBNO2 C>T	19	1108963	1108963	C	T	SBNO2	c.3431G>A	NM_014963.3	NP_055778.2:p.(Arg1144Gln)	NC_000019.9:g.1108963C>T	(Likely) benign	1 lab	3a45230a66
9:139910460 ABCA2 G>A	9	139910460	139910460	G	A	ABCA2	c.3271C>T	NM_001606.5	NP_001597.2:p.(Arg1091Trp)	NC_000009.11:g.139910460G>A	VUS	1 lab	3a45e4da33
11:65652103 FIBP C>T	11	65652103	65652103	C	T	FIBP	c.844G>A	NM_004214.5	NP_004205.2:p.(Val282Met)	NC_000011.9:g.65652103C>T	VUS	1 lab	3a464a0be6
11:16340024 SOX6 T>C	11	16340024	16340024	T	C	SOX6	c.413A>G	NM_001367873.1	NP_001354802.1:p.(Lys138Arg)	NC_000011.9:g.16340024T>C	VUS	1 lab	3a4663aec5
2:31560493 XDH G>C	2	31560493	31560493	G	C	XDH	c.3951+14C>G	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31560493G>C	(Likely) benign	1 lab	1e422ef502
17:29661962 NF1 TA>T	17	29661962	29661963	TA	T	NF1	c.5920del	NM_001042492.3	NP_001035957.1:p.(Ile1974PhefsTer5)	NC_000017.10:g.29661963del	(Likely) pathogenic	1 lab	3a49d7178a
6:33257650 PFDN6 A>G	6	33257650	33257650	A	G	PFDN6	c.17A>G	NM_001185181.3	NP_001172110.1:p.(Gln6Arg)	NC_000006.11:g.33257650A>G	(Likely) benign	1 lab	3a49e4574b
11:103060449 DYNC2H1 AC>A	11	103060449	103060451	AC	A	DYNC2H1	c.7343del	NM_001377.3	NP_001368.2:p.(Pro2448GlnfsTer7)	NC_000011.9:g.103060451del	VUS	1 lab	3a4aefd32a
5:159992570 ATP10B G>C	5	159992570	159992570	G	C	ATP10B	c.4276C>G	NM_025153.3	NP_079429.2:p.(His1426Asp)	NC_000005.9:g.159992570G>C	VUS	1 lab	3a4b07af0e
5:112175862 APC T>G	5	112175862	112175862	T	G	APC	c.4571T>G	NM_000038.6	NP_000029.2:p.(Ile1524Arg)	NC_000005.9:g.112175862T>G	VUS	1 lab	3a4b6c3ad3
3:195595559 TNK2 C>A	3	195595559	195595559	C	A	TNK2	c.1610G>T	NM_001382273.1	NP_001369202.1:p.(Ser537Ile)	NC_000003.11:g.195595559C>A	(Likely) benign	1 lab	3a4c459426
17:44248801 KANSL1 T>C	17	44248801	44248801	T	C	KANSL1	c.709A>G	NM_015443.4	NP_056258.1:p.(Met237Val)	NC_000017.10:g.44248801T>C	VUS	1 lab	3a4c9ae9d6
16:81819626 PLCG2 C>T	16	81819626	81819626	C	T	PLCG2	c.32C>T	NM_002661.5	NP_002652.2:p.(Ala11Val)	NC_000016.9:g.81819626C>T	(Likely) benign	1 lab	3a4d4e3beb
5:154317524 GEMIN5 T>C	5	154317524	154317524	T	C	GEMIN5	c.166+4A>G	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154317524T>C	(Likely) benign	1 lab	3a4d5aac90
2:37232879 HEATR5B A>C	2	37232879	37232879	A	C	HEATR5B	c.4801T>G	NM_019024.3	NP_061897.1:p.(Ser1601Ala)	NC_000002.11:g.37232879A>C	(Likely) benign	1 lab	3a4ec2d29b
X:57935705 ZXDA C>A	X	57935705	57935705	C	A	ZXDA	c.1150G>T	NM_007156.5	NP_009087.1:p.(Glu384Ter)	NC_000023.10:g.57935705C>A	VUS	1 lab	3a4ec58f68
11:69933928 ANO1 G>A	11	69933928	69933928	G	A	ANO1	c.179G>A	NM_018043.7	NP_060513.5:p.(Arg60His)	NC_000011.9:g.69933928G>A	VUS	1 lab	3a4f3fbf6c
5:42719307 GHR CA>C	5	42719307	42719308	CA	C	GHR	c.1699del	NM_000163.5	NP_000154.1:p.(Ile567SerfsTer34)	NC_000005.9:g.42719308del	(Likely) pathogenic	1 lab	3a4f6bde5f
X:52893936 XAGE3 A>C	X	52893936	52893936	A	C	XAGE3	c.188-7T>G	NM_133179.3	NP_573440.1:p.?	NC_000023.10:g.52893936A>C	(Likely) benign	1 lab	3a4fd88c2c
4:81967102 BMP3 A>T	4	81967102	81967102	A	T	BMP3	c.527A>T	NM_001201.5	NP_001192.4:p.(Gln176Leu)	NC_000004.11:g.81967102A>T	(Likely) benign	1 lab	3a50722869
11:9878267 SBF2 C>T	11	9878267	9878267	C	T	SBF2	c.2101G>A	NM_030962.4	NP_112224.1:p.(Asp701Asn)	NC_000011.9:g.9878267C>T	VUS	1 lab	3a50ed061d
1:205130518 DSTYK G>A	1	205130518	205130518	G	A	DSTYK	c.1819-3C>T	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205130518G>A	(Likely) benign	1 lab	3a50f466ed
6:39895122 MOCS1 C>T	6	39895122	39895122	C	T	MOCS1	c.196G>A	NM_001358530.2	NP_001345459.1:p.(Gly66Ser)	NC_000006.11:g.39895122C>T	VUS	1 lab	3a51add3b3
15:33358832 FMN1 TGTG>T	15	33358832	33358837	TGTG	T	FMN1	c.2044-1560_2044-1558del	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33358835_33358837del	VUS	1 lab	3a52047cb9
7:44189420 GCK C>T	7	44189420	44189420	C	T	GCK	c.618G>A	NM_000162.5	NP_000153.1:p.(Thr206=)	NC_000007.13:g.44189420C>T	(Likely) benign	1 lab	3a5275356d
17:3030393 OR1G1 C>A	17	3030393	3030393	C	A	OR1G1	c.453G>T	NM_003555.1	NP_003546.1:p.(Met151Ile)	NC_000017.10:g.3030393C>A	VUS	1 lab	3a54fb677c
3:25642698 TOP2B G>A	3	25642698	25642698	G	A	TOP2B	c.4508C>T	NM_001330700.2	NP_001317629.1:p.(Thr1503Ile)	NC_000003.11:g.25642698G>A	(Likely) benign	1 lab	3a55a278b0
1:40235614 BMP8B C>T	1	40235614	40235614	C	T	BMP8B	c.673+4366G>A	NM_001720.5	NP_001711.2:p.?	NC_000001.10:g.40235614C>T	VUS	1 lab	3a57ebe667
7:100205261 PCOLCE G>A	7	100205261	100205261	G	A	PCOLCE	c.1014G>A	NM_002593.4	NP_002584.2:p.(Val338=)	NC_000007.13:g.100205261G>A	VUS	1 lab	3a584d826a
2:74760062 HTRA2 C>T	2	74760062	74760062	C	T	HTRA2	c.1327C>T	NM_013247.5	NP_037379.1:p.(Arg443Trp)	NC_000002.11:g.74760062C>T	VUS	1 lab	3a586e2c3d
8:145012789 PLEC C>T	8	145012789	145012789	C	T	PLEC	c.174+10G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145012789C>T	(Likely) benign	1 lab	3a58722927
10:114925475 TCF7L2 C>A	10	114925475	114925475	C	A	TCF7L2	c.1604C>A	NM_001367943.1	NP_001354872.1:p.(Ser535Ter)	NC_000010.10:g.114925475C>A	(Likely) benign	1 lab	3a592a3da6
4:107016790 TBCK C>G	4	107016790	107016790	C	G	TBCK	c.2420G>C	NM_001163435.3	NP_001156907.2:p.(Arg807Pro)	NC_000004.11:g.107016790C>G	(Likely) benign	1 lab	3a5d915694
1:11883810 CLCN6 A>G	1	11883810	11883810	A	G	CLCN6	c.500A>G	NM_001286.5	NP_001277.2:p.(Asn167Ser)	NC_000001.10:g.11883810A>G	(Likely) benign	1 lab	3a5e307843
1:43393434 SLC2A1 C>T	1	43393434	43393434	C	T	SLC2A1	c.1120G>A	NM_006516.4	NP_006507.2:p.(Gly374Ser)	NC_000001.10:g.43393434C>T	VUS	1 lab	3a5ebd3a6d
4:121957783 NDNF G>C	4	121957783	121957783	G	C	NDNF	c.1343C>G	NM_024574.4	NP_078850.3:p.(Pro448Arg)	NC_000004.11:g.121957783G>C	VUS	1 lab	3a5f2a0e02
5:140763469 PCDHGA1 A>C	5	140763469	140763469	A	C	PCDHGA1	c.2421+50797A>C	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140763469A>C	VUS	1 lab	3a5fc1e7eb
7:151944706 KMT2C A>T	7	151944706	151944706	A	T	KMT2C	c.2532+281T>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944706A>T	(Likely) benign	1 lab	3a60c8fd23
19:12985454 MAST1 C>T	19	12985454	12985454	C	T	MAST1	c.4483C>T	NM_014975.3	NP_055790.1:p.(Arg1495Cys)	NC_000019.9:g.12985454C>T	VUS	1 lab	3a618e2848
11:102988549 DYNC2H1 AT>A	11	102988549	102988553	AT	A	DYNC2H1	c.960del	NM_001377.3	NP_001368.2:p.(Pro321GlnfsTer48)	NC_000011.9:g.102988553del	(Likely) pathogenic	1 lab	3a625bd105
2:110907821 NPHP1 T>C	2	110907821	110907821	T	C	NPHP1	c.1096A>G	NM_001128178.3	NP_001121650.1:p.(Ile366Val)	NC_000002.11:g.110907821T>C	(Likely) benign	1 lab	3a626666ab
1:42630320 GUCA2A C>G	1	42630320	42630320	C	G	GUCA2A	c.64G>C	NM_033553.3	NP_291031.2:p.(Val22Leu)	NC_000001.10:g.42630320C>G	VUS	1 lab	3a655d4e8b
7:40027731 CDK13 A>G	7	40027731	40027731	A	G	CDK13	c.1745A>G	NM_003718.5	NP_003709.3:p.(Glu582Gly)	NC_000007.13:g.40027731A>G	(Likely) benign	1 lab	3a66a26f40
17:12896200 ELAC2 C>CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG	17	12896200	12896263	C	CATCCTCCAGGCCGCCTGCCAGCTCCCTGGACAGGAGGGCCGCCCGCACCTGCCGCAGCTCCCG	ELAC2	c.2353_2415dup	NM_018127.7	NP_060597.4:p.(Arg785_Asp805dup)	NC_000017.10:g.12896201_12896263dup	(Likely) benign	1 lab	3a67b52a29
4:1807477 FGFR3 G>T	4	1807477	1807477	G	T	FGFR3	c.1646G>T	NM_000142.5	NP_000133.1:p.(Gly549Val)	NC_000004.11:g.1807477G>T	VUS	1 lab	3a69d7ad76
3:157146184 VEPH1 G>C	3	157146184	157146184	G	C	VEPH1	c.623C>G	NM_001167912.2	NP_001161384.1:p.(Ser208Cys)	NC_000003.11:g.157146184G>C	(Likely) benign	1 lab	3a6a4b8bda
12:20787932 PDE3A A>T	12	20787932	20787932	A	T	PDE3A	c.1943A>T	NM_000921.5	NP_000912.3:p.(Glu648Val)	NC_000012.11:g.20787932A>T	(Likely) benign	1 lab	3a6acc518c
7:7516766 COL28A1 C>T	7	7516766	7516766	C	T	COL28A1	c.1210G>A	NM_001037763.3	NP_001032852.2:p.(Gly404Arg)	NC_000007.13:g.7516766C>T	VUS	1 lab	3a6c36051f
16:30732168 SRCAP TCCC>T	16	30732168	30732173	TCCC	T	SRCAP	c.3125_3127del	NM_006662.3	NP_006653.2:p.(Pro1042del)	NC_000016.9:g.30732171_30732173del	VUS	1 lab	3a6f28cc56
17:12903598 ELAC2 G>GGAGA	17	12903598	12903599	G	GGAGA	ELAC2	c.1305-8_1305-7insTCTC	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12903598_12903599insGAGA	(Likely) benign	1 lab	3a6f7897d9
2:65237771 SLC1A4 G>T	2	65237771	65237771	G	T	SLC1A4	c.674G>T	NM_003038.5	NP_003029.2:p.(Gly225Val)	NC_000002.11:g.65237771G>T	VUS	1 lab	3a7be74aa9
12:13715697 GRIN2B T>TAACCTCTCTGTTCCCTCACTCAGACATC	12	13715697	13715726	T	TAACCTCTCTGTTCCCTCACTCAGACATC	GRIN2B	c.4447_*19dup	NM_000834.5	NP_000825.2:p.(Cys7CysfsTer?)	NC_000012.11:g.13715699_13715726dup	(Likely) benign	1 lab	3a702f8b63
X:152083695 ZNF185 GGCCGGAGTCGC>G	X	152083695	152083709	GGCCGGAGTCGC	G	ZNF185	c.176_186del	NM_001395254.1	NP_001382183.1:p.(Arg59HisfsTer13)	NC_000023.10:g.152083699_152083709del	VUS	1 lab	3a70dd3aef
22:41256741 XPNPEP3 A>G	22	41256741	41256741	A	G	XPNPEP3	c.64+3492A>G	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41256741A>G	(Likely) benign	1 lab	3a722c660a
4:122754438 BBS7 T>C	4	122754438	122754438	T	C	BBS7	c.1624A>G	NM_176824.3	NP_789794.1:p.(Thr542Ala)	NC_000004.11:g.122754438T>C	VUS	1 lab	3a743ae3c3
11:118373179 KMT2A G>A	11	118373179	118373179	G	A	KMT2A	c.6572G>A	NM_001197104.2	NP_001184033.1:p.(Arg2191Gln)	NC_000011.9:g.118373179G>A	(Likely) benign	1 lab	3a74a4053d
2:84777030 DNAH6 ACTAT>A	2	84777030	84777037	ACTAT	A	DNAH6	c.1338_1341del	NM_001370.2	NP_001361.1:p.(Tyr446Ter)	NC_000002.11:g.84777034_84777037del	VUS	1 lab	1dd4cbe8da
5:1403212 SLC6A3 C>A	5	1403212	1403212	C	A	SLC6A3	c.1600-8G>T	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1403212C>A	(Likely) benign	1 lab	1dd5b94afc
9:18684771 ADAMTSL1 A>T	9	18684771	18684771	A	T	ADAMTSL1	c.1547A>T	NM_001040272.6	NP_001035362.3:p.(Glu516Val)	NC_000009.11:g.18684771A>T	VUS	1 lab	3a77fadce6
15:89392883 ACAN C>T	15	89392883	89392883	C	T	ACAN	c.1947C>T	NM_001369268.1	NP_001356197.1:p.(Gly649=)	NC_000015.9:g.89392883C>T	VUS	1 lab	3a788a64ff
X:131212501 FRMD7 T>G	X	131212501	131212501	T	G	FRMD7	c.1544A>C	NM_194277.3	NP_919253.1:p.(Glu515Ala)	NC_000023.10:g.131212501T>G	(Likely) benign	1 lab	3a792136c6
11:17408522 KCNJ11 C>T	11	17408522	17408522	C	T	KCNJ11	c.1117G>A	NM_000525.4	NP_000516.3:p.(Val373Met)	NC_000011.9:g.17408522C>T	VUS	1 lab	3a79597325
2:74076607 STAMBP G>T	2	74076607	74076607	G	T	STAMBP	c.860G>T	NM_213622.4	NP_998787.1:p.(Gly287Val)	NC_000002.11:g.74076607G>T	VUS	1 lab	3a7c460df8
5:64100191 CWC27 GAGA>G	5	64100191	64100198	GAGA	G	CWC27	c.921_923del	NM_005869.4	NP_005860.2:p.(Lys308del)	NC_000005.9:g.64100196_64100198del	VUS	1 lab	3a7d44f3fa
3:47162152 SETD2 C>T	3	47162152	47162152	C	T	SETD2	c.3974G>A	NM_014159.7	NP_054878.5:p.(Gly1325Glu)	NC_000003.11:g.47162152C>T	VUS	1 lab	3a7d8f67e2
15:24922746 NPAP1 A>G	15	24922746	24922746	A	G	NPAP1	c.1732A>G	NM_018958.3	NP_061831.2:p.(Met578Val)	NC_000015.9:g.24922746A>G	VUS	1 lab	3a7eda45b1
X:13754649 OFD1 G>T	X	13754649	13754649	G	T	OFD1	c.164G>T	NM_003611.3	NP_003602.1:p.(Gly55Val)	NC_000023.10:g.13754649G>T	VUS	1 lab	3a7f1a7bcd
4:6279293 WFS1 G>A	4	6279293	6279293	G	A	WFS1	c.111G>A	NM_006005.3	NP_005996.2:p.(Arg37=)	NC_000004.11:g.6279293G>A	(Likely) benign	1 lab	3a7f2be5a5
15:93552555 CHD2 TA>T	15	93552555	93552557	TA	T	CHD2	c.4592+4del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93552557del	VUS	1 lab	1dd742a2ee
11:684927 DEAF1 A>G	11	684927	684927	A	G	DEAF1	c.841T>C	NM_021008.4	NP_066288.2:p.(Cys281Arg)	NC_000011.9:g.684927A>G	(Likely) pathogenic	1 lab	3a812f624b
1:1469388 ATAD3A A>G	1	1469388	1469388	A	G	ATAD3A	c.1697A>G	NM_001170535.3	NP_001164006.1:p.(Gln566Arg)	NC_000001.10:g.1469388A>G	VUS	1 lab	3a82f5a5d4
5:180049754 FLT4 C>T	5	180049754	180049754	C	T	FLT4	c.1634G>A	NM_182925.5	NP_891555.2:p.(Arg545Gln)	NC_000005.9:g.180049754C>T	VUS	1 lab	3a8360bdcd
12:48143720 RAPGEF3 C>A	12	48143720	48143720	C	A	RAPGEF3	c.810G>T	NM_001098531.4	NP_001092001.2:p.(Gly270=)	NC_000012.11:g.48143720C>A	(Likely) benign	1 lab	3a836a3602
1:155452063 ASH1L G>A	1	155452063	155452063	G	A	ASH1L	c.598C>T	NM_018489.3	NP_060959.2:p.(Arg200Trp)	NC_000001.10:g.155452063G>A	(Likely) benign	1 lab	3a84209d22
13:110815855 COL4A1 C>T	13	110815855	110815855	C	T	COL4A1	c.4204G>A	NM_001845.6	NP_001836.3:p.(Gly1402Ser)	NC_000013.10:g.110815855C>T	VUS	1 lab	3a871f31c8
2:233001412 DIS3L2 C>G	2	233001412	233001412	C	G	DIS3L2	c.933C>G	NM_152383.5	NP_689596.4:p.(Asp311Glu)	NC_000002.11:g.233001412C>G	(Likely) benign	1 lab	3a8877cdf0
16:3078416 BICDL2 A>AG	16	3078416	3078419	A	AG	BICDL2	c.1291dup	NM_001369667.1	NP_001356596.1:p.(Leu431ProfsTer73)	NC_000016.9:g.3078419dup	VUS	1 lab	3a896605ea
12:49230730 DDX23 G>C	12	49230730	49230730	G	C	DDX23	c.957C>G	NM_004818.3	NP_004809.2:p.(Phe319Leu)	NC_000012.11:g.49230730G>C	VUS	1 lab	3a89f857ed
20:36854087 KIAA1755 C>T	20	36854087	36854087	C	T	KIAA1755	c.2149G>A	NM_001029864.2	NP_001025035.1:p.(Glu717Lys)	NC_000020.10:g.36854087C>T	(Likely) benign	1 lab	3a8dad4abc
20:37353084 MISSING G>C	20	37353084	37353084	G	C	MISSING				NC_000020.10:g.37353084G>C	VUS	1 lab	3a8dd7552d
3:160073793 IFT80 T>A	3	160073793	160073793	T	A	IFT80	c.777+8A>T	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.160073793T>A	(Likely) benign	1 lab	3a8fb8db4f
X:1407701 CSF2RA G>A	X	1407701	1407701	G	A	CSF2RA	c.393G>A	NM_172245.4	NP_758448.1:p.(Ala131=)	NC_000023.10:g.1407701G>A	VUS	1 lab	3a8ffb6cf9
7:35242077 TBX20 G>A	7	35242077	35242077	G	A	TBX20	c.1309C>T	NM_001077653.2	NP_001071121.1:p.(Arg437Cys)	NC_000007.13:g.35242077G>A	VUS	1 lab	1dd7d4ed79
2:220082906 ABCB6 C>T	2	220082906	220082906	C	T	ABCB6	c.490G>A	NM_005689.4	NP_005680.1:p.(Ala164Thr)	NC_000002.11:g.220082906C>T	VUS	1 lab	3a91594297
2:152435937 NEB T>C	2	152435937	152435937	T	C	NEB	c.16619A>G	NM_001164508.2	NP_001157980.2:p.(Tyr5540Cys)	NC_000002.11:g.152435937T>C	VUS	1 lab	3a915b2604
4:166999084 TLL1 A>T	4	166999084	166999084	A	T	TLL1	c.2344A>T	NM_012464.5	NP_036596.3:p.(Ser782Cys)	NC_000004.11:g.166999084A>T	(Likely) benign	1 lab	3a925eaa18
1:20977221 PINK1 A>T	1	20977221	20977221	A	T	PINK1	c.*37A>T	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20977221A>T	(Likely) benign	1 lab	1dd83c8e2d
X:153670514 GDI1 A>G	X	153670514	153670514	A	G	GDI1	c.1048A>G	NM_001493.3	NP_001484.1:p.(Ile350Val)	NC_000023.10:g.153670514A>G	(Likely) benign	1 lab	3a930025ca
17:78059817 CCDC40 C>A	17	78059817	78059817	C	A	CCDC40	c.2251C>A	NM_017950.4	NP_060420.2:p.(Pro751Thr)	NC_000017.10:g.78059817C>A	(Likely) benign	1 lab	3a94e841a0
16:17221661 XYLT1 G>C	16	17221661	17221661	G	C	XYLT1	c.2085C>G	NM_022166.4	NP_071449.1:p.(Phe695Leu)	NC_000016.9:g.17221661G>C	(Likely) benign	1 lab	3a96b5bce9
20:43058214 HNF4A C>T	20	43058214	43058214	C	T	HNF4A	c.1334C>T	NM_000457.5	NP_000448.3:p.(Pro445Leu)	NC_000020.10:g.43058214C>T	(Likely) benign	1 lab	3a989d6520
2:179634598 TTN C>T	2	179634598	179634598	C	T	TTN	c.8710G>A	NM_001267550.2	NP_001254479.2:p.(Glu2904Lys)	NC_000002.11:g.179634598C>T	VUS	1 lab	3a9b1652a4
7:70231228 AUTS2 C>T	7	70231228	70231228	C	T	AUTS2	c.1597C>T	NM_015570.4	NP_056385.1:p.(His533Tyr)	NC_000007.13:g.70231228C>T	(Likely) pathogenic	1 lab	3a9bafff2b
19:46271728 SIX5 C>G	19	46271728	46271728	C	G	SIX5	c.375G>C	NM_175875.4	NP_787071.2:p.(Pro125=)	NC_000019.9:g.46271728C>G	(Likely) benign	1 lab	1e43074839
15:34530504 SLC12A6 T>C	15	34530504	34530504	T	C	SLC12A6	c.2731A>G	NM_001365088.1	NP_001352017.1:p.(Ile911Val)	NC_000015.9:g.34530504T>C	VUS	1 lab	3a9d6c9555
5:79950696 DHFR CGCTGCAGCG>C	5	79950696	79950716	CGCTGCAGCG	C	DHFR	c.-397_-389del	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950708_79950716del	(Likely) benign	1 lab	3a9d759a51
9:133951313 LAMC3 G>A	9	133951313	133951313	G	A	LAMC3	c.3590G>A	NM_006059.4	NP_006050.3:p.(Gly1197Glu)	NC_000009.11:g.133951313G>A	(Likely) benign	1 lab	3a9dd164f5
12:102155357 GNPTAB T>C	12	102155357	102155357	T	C	GNPTAB	c.2900A>G	NM_024312.5	NP_077288.2:p.(Gln967Arg)	NC_000012.11:g.102155357T>C	VUS	1 lab	3a9eef91db
13:23906652 SACS C>T	13	23906652	23906652	C	T	SACS	c.11363G>A	NM_014363.6	NP_055178.3:p.(Arg3788His)	NC_000013.10:g.23906652C>T	VUS	1 lab	1ddb38ba4e
7:36579939 AOAH C>T	7	36579939	36579939	C	T	AOAH	c.1292G>A	NM_001637.4	NP_001628.1:p.(Arg431Lys)	NC_000007.13:g.36579939C>T	(Likely) benign	1 lab	3aa04a613e
17:7127308 ACADVL C>T	17	7127308	7127308	C	T	ACADVL	c.1354C>T	NM_000018.4	NP_000009.1:p.(Leu452Phe)	NC_000017.10:g.7127308C>T	VUS	1 lab	3aa1666af9
16:2160426 PKD1 G>A	16	2160426	2160426	G	A	PKD1	c.4742C>T	NM_001009944.3	NP_001009944.3:p.(Ser1581Phe)	NC_000016.9:g.2160426G>A	VUS	1 lab	3aa17378ef
1:1273819 DVL1 G>A	1	1273819	1273819	G	A	DVL1	c.1340-3C>T	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1273819G>A	(Likely) benign	1 lab	3aa1c40eab
6:135263563 ALDH8A1 C>A	6	135263563	135263563	C	A	ALDH8A1	c.426G>T	NM_022568.4	NP_072090.1:p.(Arg142=)	NC_000006.11:g.135263563C>A	VUS	1 lab	3aa32bf0e4
3:37089073 MLH1 GAGGAAGATGGTCCCAAAGA>G	3	37089073	37089096	GAGGAAGATGGTCCCAAAGA	G	MLH1	c.1800_1818del	NM_000249.4	NP_000240.1:p.(Glu600AspfsTer10)	NC_000003.11:g.37089078_37089096del	(Likely) pathogenic	1 lab	3aa36ca511
16:2521796 NTN3 G>A	16	2521796	2521796	G	A	NTN3	c.94G>A	NM_006181.3	NP_006172.1:p.(Asp32Asn)	NC_000016.9:g.2521796G>A	VUS	1 lab	3aa46698ad
X:605133 SHOX C>T	X	605133	605133	C	T	SHOX	c.641C>T	NM_000451.3	NP_000442.1:p.(Ala214Val)	NC_000023.10:g.605133C>T	VUS	1 lab	3b4cfc7bcf
5:121488721 ZNF474 A>G	5	121488721	121488721	A	G	ZNF474	c.1036A>G	NM_207317.3	NP_997200.1:p.(Lys346Glu)	NC_000005.9:g.121488721A>G	VUS	1 lab	3aa4c14ca1
10:50740864 ERCC6 A>G	10	50740864	50740864	A	G	ERCC6	c.147T>C	NM_000124.4	NP_000115.1:p.(Ser49=)	NC_000010.10:g.50740864A>G	VUS	1 lab	3adfbb5c6c
12:116404036 MED13L G>GC	12	116404036	116404037	G	GC	MED13L	c.6237dup	NM_015335.5	NP_056150.1:p.(Arg2080AlafsTer5)	NC_000012.11:g.116404037dup	(Likely) pathogenic	1 lab	3aa5abb317
10:76712017 KAT6B G>A	10	76712017	76712017	G	A	KAT6B	c.622-7711G>A	NM_012330.4	NP_036462.2:p.?	NC_000010.10:g.76712017G>A	(Likely) benign	1 lab	3aa5f0fb25
19:14274110 ADGRL1 C>G	19	14274110	14274110	C	G	ADGRL1	c.503G>C	NM_014921.5	NP_055736.2:p.(Arg168Pro)	NC_000019.9:g.14274110C>G	VUS	1 lab	3aa8376e4e
2:74244555 TET3 C>G	2	74244555	74244555	C	G	TET3	c.360+14262C>G	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74244555C>G	(Likely) benign	1 lab	3aa8657699
1:1139565 TNFRSF18 G>A	1	1139565	1139565	G	A	TNFRSF18	c.450C>T	NM_004195.3	NP_004186.1:p.(Asn150=)	NC_000001.10:g.1139565G>A	VUS	1 lab	3aab652e03
2:232879560 DIS3L2 C>T	2	232879560	232879560	C	T	DIS3L2	c.-78C>T	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232879560C>T	(Likely) benign	1 lab	3aac95f0a3
3:70014166 MITF C>T	3	70014166	70014166	C	T	MITF	c.1348C>T	NM_001354604.2	NP_001341533.1:p.(Leu450Phe)	NC_000003.11:g.70014166C>T	VUS	1 lab	3aae76609a
16:15818073 MYH11 T>C	16	15818073	15818073	T	C	MYH11	c.4310A>G	NM_002474.3	NP_002465.1:p.(Asp1437Gly)	NC_000016.9:g.15818073T>C	VUS	1 lab	3aaf1dfce6
22:51159583 SHANK3 C>T	22	51159583	51159583	C	T	SHANK3	c.3547C>T	NM_001372044.2	NP_001358973.1:p.(Leu1183=)	NC_000022.10:g.51159583C>T	(Likely) benign	1 lab	3ab31f3451
20:62038044 KCNQ2 C>T	20	62038044	62038044	C	T	KCNQ2	c.2572G>A	NM_172107.4	NP_742105.1:p.(Gly858Ser)	NC_000020.10:g.62038044C>T	VUS	1 lab	1e4886d35e
14:23859550 MYH6 C>G	14	23859550	23859550	C	G	MYH6	c.3448G>C	NM_002471.4	NP_002462.2:p.(Glu1150Gln)	NC_000014.8:g.23859550C>G	VUS	1 lab	3ab67f224a
3:52387600 DNAH1 GC>AT	3	52387600	52387601	GC	AT	DNAH1	c.3431_3432delinsAT	NM_015512.5	NP_056327.4:p.(Ser1144Asn)	NC_000003.11:g.52387600_52387601delinsAT	VUS	1 lab	3ab89f016a
2:228846549 SPHKAP G>A	2	228846549	228846549	G	A	SPHKAP	c.4987C>T	NM_001142644.2	NP_001136116.1:p.(Arg1663Trp)	NC_000002.11:g.228846549G>A	VUS	1 lab	3abe8b1237
1:185274732 IVNS1ABP C>A	1	185274732	185274732	C	A	IVNS1ABP	c.701G>T	NM_006469.5	NP_006460.2:p.(Gly234Val)	NC_000001.10:g.185274732C>A	VUS	1 lab	1ddc61e61a
6:42044847 TAF8 G>C	6	42044847	42044847	G	C	TAF8	c.790G>C	NM_138572.3	NP_612639.2:p.(Gly264Arg)	NC_000006.11:g.42044847G>C	(Likely) benign	1 lab	3abfe82a5a
1:8716302 RERE G>A	1	8716302	8716302	G	A	RERE	c.55C>T	NM_001042681.2	NP_001036146.1:p.(Arg19Trp)	NC_000001.10:g.8716302G>A	(Likely) benign	1 lab	3ac272575f
11:108017047 ACAT1 A>G	11	108017047	108017047	A	G	ACAT1	c.1124A>G	NM_000019.4	NP_000010.1:p.(Asn375Ser)	NC_000011.9:g.108017047A>G	(Likely) pathogenic	1 lab	3ac366bed2
5:176671221 NSD1 A>G	5	176671221	176671221	A	G	NSD1	c.4328A>G	NM_022455.5	NP_071900.2:p.(Asn1443Ser)	NC_000005.9:g.176671221A>G	VUS	1 lab	3ac389a777
X:140953354 MAGEC3 G>A	X	140953354	140953354	G	A	MAGEC3	c.221G>A	NM_138702.1	NP_619647.1:p.(Arg74Gln)	NC_000023.10:g.140953354G>A	(Likely) benign	1 lab	3ac4ca359c
17:78188126 SGSH G>C	17	78188126	78188126	G	C	SGSH	c.508C>G	NM_000199.5	NP_000190.1:p.(Pro170Ala)	NC_000017.10:g.78188126G>C	VUS	1 lab	3ac4ccda69
2:73799619 ALMS1 AAGAC>A	2	73799619	73799626	AAGAC	A	ALMS1	c.10619_10622del	NM_001378454.1	NP_001365383.1:p.(Thr3540IlefsTer5)	NC_000002.11:g.73799623_73799626del	(Likely) pathogenic	1 lab	3ac4f3a952
7:100364789 ZAN G>T	7	100364789	100364789	G	T	ZAN	c.4769G>T	NM_003386.3	NP_003377.2:p.(Arg1590Leu)	NC_000007.13:g.100364789G>T	VUS	1 lab	3ac75d3fbe
16:2122244 TSC2 G>C	16	2122244	2122244	G	C	TSC2	c.2100G>C	NM_000548.5	NP_000539.2:p.(Glu700Asp)	NC_000016.9:g.2122244G>C	VUS	1 lab	3ac795f6cb
15:64592662 CSNK1G1 G>A	15	64592662	64592662	G	A	CSNK1G1	c.37C>T	NM_022048.5	NP_071331.2:p.(Arg13Trp)	NC_000015.9:g.64592662G>A	VUS	1 lab	3ac7fcc1cf
11:45944554 LARGE2 C>G	11	45944554	45944554	C	G	LARGE2	c.121C>G	NM_001300721.2	NP_001287650.1:p.(Arg41Gly)	NC_000011.9:g.45944554C>G	(Likely) benign	1 lab	3ac974af41
12:49226363 DDX23 A>G	12	49226363	49226363	A	G	DDX23	c.1804-7T>C	NM_004818.3	NP_004809.2:p.?	NC_000012.11:g.49226363A>G	(Likely) benign	1 lab	3ac9d5f812
2:179641681 TTN C>T	2	179641681	179641681	C	T	TTN	c.4910G>A	NM_001267550.2	NP_001254479.2:p.(Gly1637Asp)	NC_000002.11:g.179641681C>T	VUS	1 lab	3aca117176
15:42589852 GANC C>A	15	42589852	42589852	C	A	GANC	c.556C>A	NM_198141.3	NP_937784.2:p.(Gln186Lys)	NC_000015.9:g.42589852C>A	(Likely) benign	1 lab	3aca2d2865
7:107599935 LAMB1 C>T	7	107599935	107599935	C	T	LAMB1	c.2459-10G>A	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107599935C>T	(Likely) benign	1 lab	3acbb340a9
7:44190552 GCK C>T	7	44190552	44190552	C	T	GCK	c.483+3G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44190552C>T	(Likely) benign	1 lab	3acc116c9a
7:156802643 MNX1 A>AGCGGCGGCG	7	156802643	156802672	A	AGCGGCGGCG	MNX1	c.393_401dup	NM_005515.4	NP_005506.3:p.(Ala132_Ala134dup)	NC_000007.13:g.156802664_156802672dup	VUS	1 lab	3acc62fc7c
1:145609245 POLR3C G>A	1	145609245	145609245	G	A	POLR3C	c.92C>T	NM_006468.8	NP_006459.3:p.(Thr31Ile)	NC_000001.10:g.145609245G>A	(Likely) benign	1 lab	3acf6cf765
17:62022068 SCN4A C>T	17	62022068	62022068	C	T	SCN4A	c.3877G>A	NM_000334.4	NP_000325.4:p.(Val1293Ile)	NC_000017.10:g.62022068C>T	(Likely) pathogenic	1 lab	3ad05e6675
11:108186605 ATM G>C	11	108186605	108186605	G	C	ATM	c.6062G>C	NM_000051.4	NP_000042.3:p.(Cys2021Ser)	NC_000011.9:g.108186605G>C	VUS	1 lab	3ad2251d35
14:61446300 TRMT5 CTATT>C	14	61446300	61446305	CTATT	C	TRMT5	c.312_315del	NM_020810.3	NP_065861.3:p.(Ile105SerfsTer4)	NC_000014.8:g.61446302_61446305del	(Likely) pathogenic	1 lab	3ad292547f
3:46940899 PTH1R T>C	3	46940899	46940899	T	C	PTH1R	c.941T>C	NM_000316.3	NP_000307.1:p.(Phe314Ser)	NC_000003.11:g.46940899T>C	VUS	1 lab	3ad2e1240a
1:120459025 NOTCH2 C>T	1	120459025	120459025	C	T	NOTCH2	c.6320G>A	NM_024408.4	NP_077719.2:p.(Ser2107Asn)	NC_000001.10:g.120459025C>T	VUS	1 lab	3ad3c4c48b
8:61655229 CHD7 T>G	8	61655229	61655229	T	G	CHD7	c.1238T>G	NM_017780.4	NP_060250.2:p.(Val413Gly)	NC_000008.10:g.61655229T>G	VUS	1 lab	3ad484e0dd
2:27306580 EMILIN1 A>C	2	27306580	27306580	A	C	EMILIN1	c.2141A>C	NM_007046.4	NP_008977.1:p.(Gln714Pro)	NC_000002.11:g.27306580A>C	(Likely) benign	1 lab	3ad5260a83
5:7873631 MTRR G>A	5	7873631	7873631	G	A	MTRR	c.275G>A	NM_002454.3	NP_002445.2:p.(Gly92Glu)	NC_000005.9:g.7873631G>A	VUS	1 lab	3ad7043163
4:191003260 MISSING G>T	4	191003260	191003260	G	T	MISSING				NC_000004.11:g.191003260G>T	VUS	1 lab	3cb9b56bc6
10:89717733 PTEN T>A	10	89717733	89717733	T	A	PTEN	c.758T>A	NM_000314.8	NP_000305.3:p.(Ile253Asn)	NC_000010.10:g.89717733T>A	(Likely) pathogenic	1 lab	3ada1f623b
10:5038045 AKR1C2 G>A	10	5038045	5038045	G	A	AKR1C2	c.583C>T	NM_001393392.1	NP_001380321.1:p.(Pro195Ser)	NC_000010.10:g.5038045G>A	(Likely) benign	1 lab	3ada46d6c9
12:81051764 PTPRQ A>G	12	81051764	81051764	A	G	PTPRQ	c.6116A>G	NM_001145026.2	NP_001138498.1:p.(Tyr2039Cys)	NC_000012.11:g.81051764A>G	VUS	1 lab	3adb440441
3:9990895 PRRT3 G>A	3	9990895	9990895	G	A	PRRT3	c.905C>T	NM_207351.5	NP_997234.3:p.(Ser302Phe)	NC_000003.11:g.9990895G>A	(Likely) benign	1 lab	3adb4ffd55
11:119548381 NECTIN1 G>A	11	119548381	119548381	G	A	NECTIN1	c.617C>T	NM_002855.5	NP_002846.3:p.(Thr206Met)	NC_000011.9:g.119548381G>A	VUS	1 lab	3adc9064f4
X:47479208 SYN1 A>G	X	47479208	47479208	A	G	SYN1	c.-81T>C	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47479208A>G	(Likely) benign	1 lab	1e4987f569
2:242285636 SEPTIN2 C>T	2	242285636	242285636	C	T	SEPTIN2	c.898C>T	NM_004404.5	NP_004395.1:p.(Arg300Cys)	NC_000002.11:g.242285636C>T	VUS	1 lab	3add3bbcee
14:70809365 COX16 T>C	14	70809365	70809365	T	C	COX16	c.141+10A>G	NM_016468.7	NP_057552.1:p.?	NC_000014.8:g.70809365T>C	VUS	1 lab	3adde2a00d
1:22160355 HSPG2 G>T	1	22160355	22160355	G	T	HSPG2	c.10784C>A	NM_005529.7	NP_005520.4:p.(Pro3595His)	NC_000001.10:g.22160355G>T	VUS	1 lab	3adf28b67f
1:12020776 PLOD1 T>C	1	12020776	12020776	T	C	PLOD1	c.1049T>C	NM_000302.4	NP_000293.2:p.(Val350Ala)	NC_000001.10:g.12020776T>C	VUS	1 lab	3ae009e106
8:70551073 SULF1 G>A	8	70551073	70551073	G	A	SULF1	c.2531G>A	NM_001128205.2	NP_001121677.1:p.(Arg844Lys)	NC_000008.10:g.70551073G>A	VUS	1 lab	3ae0355d4a
9:140128387 SLC34A3 C>A	9	140128387	140128387	C	A	SLC34A3	c.919C>A	NM_001177316.2	NP_001170787.2:p.(Leu307Met)	NC_000009.11:g.140128387C>A	(Likely) benign	1 lab	3ae073b86d
11:64559826 MAP4K2 CATTTCTTA>C	11	64559826	64559834	CATTTCTTA	C	MAP4K2	c.1810+2_1810+9del	NM_004579.5	NP_004570.2:p.?	NC_000011.9:g.64559827_64559834del	(Likely) benign	1 lab	3ae212c754
7:69064874 AUTS2 G>A	7	69064874	69064874	G	A	AUTS2	c.235G>A	NM_015570.4	NP_056385.1:p.(Glu79Lys)	NC_000007.13:g.69064874G>A	VUS	1 lab	3ae28476fb
11:33112116 CSTF3 G>T	11	33112116	33112116	G	T	CSTF3	c.1603C>A	NM_001326.3	NP_001317.1:p.(Pro535Thr)	NC_000011.9:g.33112116G>T	VUS	1 lab	3ae299fc8a
2:179613229 TTN T>C	2	179613229	179613229	T	C	TTN	c.11311+4622A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613229T>C	(Likely) benign	1 lab	3ae4b10e7a
4:70505072 UGT2A2 A>G	4	70505072	70505072	A	G	UGT2A2	c.287T>C	NM_001105677.2	NP_001099147.2:p.(Ile96Thr)	NC_000004.11:g.70505072A>G	VUS	1 lab	3ae4f20f4f
21:34948982 SON A>C	21	34948982	34948982	A	C	SON	c.*252A>C	NM_138927.4	NP_620305.3:p.?	NC_000021.8:g.34948982A>C	(Likely) benign	1 lab	3ae53fd817
17:17698207 RAI1 T>A	17	17698207	17698207	T	A	RAI1	c.1945T>A	NM_030665.4	NP_109590.3:p.(Cys649Ser)	NC_000017.10:g.17698207T>A	(Likely) benign	1 lab	3ae54a5286
1:50884803 DMRTA2 T>G	1	50884803	50884803	T	G	DMRTA2	c.1163A>C	NM_032110.3	NP_115486.1:p.(Asp388Ala)	NC_000001.10:g.50884803T>G	VUS	1 lab	3ae5967bfa
16:89347537 ANKRD11 C>T	16	89347537	89347537	C	T	ANKRD11	c.5413G>A	NM_013275.6	NP_037407.4:p.(Val1805Ile)	NC_000016.9:g.89347537C>T	(Likely) benign	1 lab	3ae6f11078
5:36955679 NIPBL G>C	5	36955679	36955679	G	C	NIPBL	c.170G>C	NM_133433.4	NP_597677.2:p.(Arg57Thr)	NC_000005.9:g.36955679G>C	VUS	1 lab	3ae7cf0063
2:48808580 STON1 A>C	2	48808580	48808580	A	C	STON1	c.808A>C	NM_006873.4	NP_006864.2:p.(Ser270Arg)	NC_000002.11:g.48808580A>C	VUS	1 lab	3ae7dbc3ba
17:4804416 CHRNE C>T	17	4804416	4804416	C	T	CHRNE	c.671G>A	NM_000080.4	NP_000071.1:p.(Gly224Asp)	NC_000017.10:g.4804416C>T	VUS	1 lab	3ae8529aa0
6:121625945 TBC1D32 A>G	6	121625945	121625945	A	G	TBC1D32	c.725T>C	NM_152730.6	NP_689943.4:p.(Leu242Ser)	NC_000006.11:g.121625945A>G	(Likely) benign	1 lab	3ae9a6a394
19:46282545 DMPK C>T	19	46282545	46282545	C	T	DMPK	c.409G>A	NM_004409.5	NP_004400.4:p.(Ala137Thr)	NC_000019.9:g.46282545C>T	(Likely) benign	1 lab	3aeb58970b
17:30302537 SUZ12 A>G	17	30302537	30302537	A	G	SUZ12	c.628A>G	NM_015355.4	NP_056170.2:p.(Lys210Glu)	NC_000017.10:g.30302537A>G	VUS	1 lab	3aebdd2ce1
7:122789616 SLC13A1 AT>A	7	122789616	122789620	AT	A	SLC13A1	c.661-2253del	NM_022444.4	NP_071889.2:p.?	NC_000007.13:g.122789620del	(Likely) benign	1 lab	3aebe77209
9:139399430 NOTCH1 G>A	9	139399430	139399430	G	A	NOTCH1	c.4713C>T	NM_017617.5	NP_060087.3:p.(Ala1571=)	NC_000009.11:g.139399430G>A	(Likely) benign	1 lab	1e4bfc73d3
15:64025223 HERC1 T>C	15	64025223	64025223	T	C	HERC1	c.2768A>G	NM_003922.4	NP_003913.3:p.(Asn923Ser)	NC_000015.9:g.64025223T>C	(Likely) benign	1 lab	3aec7f7fc9
7:15601409 AGMO T>TAA	7	15601409	15601413	T	TAA	AGMO	c.60_61dup	NM_001004320.2	NP_001004320.1:p.(Tyr21PhefsTer4)	NC_000007.13:g.15601412_15601413dup	(Likely) benign	1 lab	3aecd13b8f
3:71021826 FOXP1 TTCTGCAGCAAGTATAAAAGAGAGAACATTTACATTTTCTATAAGAAAAGACTCCAAAAACAGCAG>T	3	71021826	71021892	TTCTGCAGCAAGTATAAAAGAGAGAACATTTACATTTTCTATAAGAAAAGACTCCAAAAACAGCAG	T	FOXP1	c.1531-64_1531del	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71021828_71021892del	(Likely) pathogenic	1 lab	3aeeb85e05
20:35569424 SAMHD1 A>C	20	35569424	35569424	A	C	SAMHD1	c.348+18T>G	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35569424A>C	(Likely) benign	1 lab	1e4e00b9a3
22:51158885 SHANK3 C>T	22	51158885	51158885	C	T	SHANK3	c.2849C>T	NM_001372044.2	NP_001358973.1:p.(Ala950Val)	NC_000022.10:g.51158885C>T	(Likely) benign	1 lab	3af00934ed
9:129458189 LMX1B G>A	9	129458189	129458189	G	A	LMX1B	c.958G>A	NM_001174147.2	NP_001167618.1:p.(Val320Met)	NC_000009.11:g.129458189G>A	VUS	1 lab	3af0da3bcb
1:43905117 SZT2 C>CG	1	43905117	43905119	C	CG	SZT2	c.6877+6dup	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43905119dup	VUS	1 lab	3af167ca4d
2:169842615 ABCB11 G>T	2	169842615	169842615	G	T	ABCB11	c.1083+5C>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169842615G>T	(Likely) benign	1 lab	3af2ef4451
22:26854441 HPS4 G>A	22	26854441	26854441	G	A	HPS4	c.1816C>T	NM_022081.6	NP_071364.4:p.(His606Tyr)	NC_000022.10:g.26854441G>A	(Likely) benign	1 lab	1ddec6af59
21:47549390 COL6A2 G>A	21	47549390	47549390	G	A	COL6A2	c.2462-2478G>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549390G>A	(Likely) benign	1 lab	3af6f33a0b
1:78392569 NEXN C>T	1	78392569	78392569	C	T	NEXN	c.856C>T	NM_144573.4	NP_653174.3:p.(Arg286Trp)	NC_000001.10:g.78392569C>T	(Likely) benign	1 lab	1de30d345a
9:35683247 TPM2 G>GGC	9	35683247	35683249	G	GGC	TPM2	c.773-10_773-9insGC	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35683248_35683249insCG	(Likely) benign	1 lab	3afa43a841
19:13323449 CACNA1A C>G	19	13323449	13323449	C	G	CACNA1A	c.6046G>C	NM_001127222.2	NP_001120694.1:p.(Ala2016Pro)	NC_000019.9:g.13323449C>G	(Likely) benign	1 lab	3afa6ed74d
6:30627973 DHX16 T>C	6	30627973	30627973	T	C	DHX16	c.1591A>G	NM_003587.5	NP_003578.2:p.(Ile531Val)	NC_000006.11:g.30627973T>C	(Likely) benign	1 lab	3afb3c27df
12:46243954 ARID2 G>A	12	46243954	46243954	G	A	ARID2	c.2048G>A	NM_152641.4	NP_689854.2:p.(Arg683Lys)	NC_000012.11:g.46243954G>A	VUS	1 lab	3afb697702
17:36091841 HNF1B A>T	17	36091841	36091841	A	T	HNF1B	c.810-20T>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36091841A>T	(Likely) benign	1 lab	3afc586043
X:47004887 RBM10 G>A	X	47004887	47004887	G	A	RBM10	c.-126+3G>A	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47004887G>A	VUS	1 lab	3affdd0c4c
7:116409950 MET T>C	7	116409950	116409950	T	C	MET	c.2784+105T>C	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116409950T>C	(Likely) benign	1 lab	1e56834000
12:112607382 HECTD4 C>T	12	112607382	112607382	C	T	HECTD4	c.12133G>A	NM_001388303.1	NP_001375232.1:p.(Val4045Ile)	NC_000012.11:g.112607382C>T	VUS	1 lab	3b01249342
6:13278569 PHACTR1 G>A	6	13278569	13278569	G	A	PHACTR1	c.1509+8G>A	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13278569G>A	(Likely) benign	1 lab	3b014b9275
18:12325600 TUBB6 C>T	18	12325600	12325600	C	T	TUBB6	c.812C>T	NM_032525.3	NP_115914.1:p.(Ala271Val)	NC_000018.9:g.12325600C>T	(Likely) benign	1 lab	3b021c69b4
10:89505664 PAPSS2 C>T	10	89505664	89505664	C	T	PAPSS2	c.1797C>T	NM_001015880.2	NP_001015880.1:p.(Gly599=)	NC_000010.10:g.89505664C>T	(Likely) benign	1 lab	3b02817501
7:31014601 GHRHR C>T	7	31014601	31014601	C	T	GHRHR	c.828C>T	NM_000823.4	NP_000814.2:p.(Asp276=)	NC_000007.13:g.31014601C>T	(Likely) benign	1 lab	3b03af75e1
2:215914508 ABCA12 C>T	2	215914508	215914508	C	T	ABCA12	c.535G>A	NM_173076.3	NP_775099.2:p.(Asp179Asn)	NC_000002.11:g.215914508C>T	(Likely) benign	1 lab	3b05254428
14:93681613 UBR7 C>T	14	93681613	93681613	C	T	UBR7	c.587C>T	NM_175748.4	NP_786924.2:p.(Ala196Val)	NC_000014.8:g.93681613C>T	VUS	1 lab	3b06b492a6
19:36038087 TMEM147 C>T	19	36038087	36038087	C	T	TMEM147	c.496C>T	NM_032635.4	NP_116024.1:p.(Arg166Trp)	NC_000019.9:g.36038087C>T	(Likely) pathogenic	1 lab	3b071f3c1c
17:1417277 INPP5K C>T	17	1417277	1417277	C	T	INPP5K	c.45-4G>A	NM_016532.4	NP_057616.2:p.?	NC_000017.10:g.1417277C>T	(Likely) benign	1 lab	3b07fd5165
X:135427963 ADGRG4 A>G	X	135427963	135427963	A	G	ADGRG4	c.2098A>G	NM_153834.4	NP_722576.3:p.(Thr700Ala)	NC_000023.10:g.135427963A>G	(Likely) benign	1 lab	3b08cf86b5
16:2811566 SRRM2 C>T	16	2811566	2811566	C	T	SRRM2	c.1037C>T	NM_016333.4	NP_057417.3:p.(Ser346Phe)	NC_000016.9:g.2811566C>T	(Likely) benign	1 lab	3b08fb4b4f
6:108395630 OSTM1 C>A	6	108395630	108395630	C	A	OSTM1	c.226G>T	NM_014028.4	NP_054747.2:p.(Asp76Tyr)	NC_000006.11:g.108395630C>A	VUS	1 lab	3b0a710657
3:69031965 EOGT T>C	3	69031965	69031965	T	C	EOGT	c.1211A>G	NM_001278689.2	NP_001265618.1:p.(Tyr404Cys)	NC_000003.11:g.69031965T>C	VUS	1 lab	1e56db9c1f
11:1017092 MUC6 G>C	11	1017092	1017092	G	C	MUC6	c.5709C>G	NM_005961.3	NP_005952.2:p.(Ser1903Arg)	NC_000011.9:g.1017092G>C	VUS	1 lab	3b0c8484da
12:56566264 SMARCC2 G>A	12	56566264	56566264	G	A	SMARCC2	c.1874C>T	NM_001330288.2	NP_001317217.1:p.(Ala625Val)	NC_000012.11:g.56566264G>A	(Likely) benign	1 lab	3b0cff4a34
8:77766489 ZFHX4 CCAGCCA>C	8	77766489	77766514	CCAGCCA	C	ZFHX4	c.7352_7357del	NM_024721.5	NP_078997.4:p.(Gln2451_Pro2452del)	NC_000008.10:g.77766509_77766514del	VUS	1 lab	3b0d0654a3
14:102431289 DYNC1H1 G>A	14	102431289	102431289	G	A	DYNC1H1	c.256+5G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102431289G>A	VUS	1 lab	3b0e3d0324
1:229594034 NUP133 T>C	1	229594034	229594034	T	C	NUP133	c.2854A>G	NM_018230.3	NP_060700.2:p.(Thr952Ala)	NC_000001.10:g.229594034T>C	VUS	1 lab	3b0e5d2683
1:1452604 ATAD3A C>T	1	1452604	1452604	C	T	ATAD3A	c.283-87C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1452604C>T	(Likely) benign	1 lab	3b0f6da015
X:54521585 FGD1 T>C	X	54521585	54521585	T	C	FGD1	c.281A>G	NM_004463.3	NP_004454.2:p.(His94Arg)	NC_000023.10:g.54521585T>C	(Likely) benign	1 lab	3b117195cd
1:162745945 DDR2 A>G	1	162745945	162745945	A	G	DDR2	c.2068A>G	NM_006182.4	NP_006173.2:p.(Met690Val)	NC_000001.10:g.162745945A>G	(Likely) benign	1 lab	3b1313ce4d
14:102516429 DYNC1H1 C>T	14	102516429	102516429	C	T	DYNC1H1	c.13706C>T	NM_001376.5	NP_001367.2:p.(Thr4569Met)	NC_000014.8:g.102516429C>T	(Likely) benign	1 lab	3b16f25439
5:80639704 ACOT12 G>GA	5	80639704	80639713	G	GA	ACOT12	c.981-5dup	NM_130767.3	NP_570123.1:p.?	NC_000005.9:g.80639713dup	VUS	1 lab	3b18a0205c
11:111930627 DLAT A>C	11	111930627	111930627	A	C	DLAT	c.1515A>C	NM_001931.5	NP_001922.2:p.(Gln505His)	NC_000011.9:g.111930627A>C	VUS	1 lab	3b18cedac6
11:77085414 PAK1 C>A	11	77085414	77085414	C	A	PAK1	c.440-4G>T	NM_002576.5	NP_002567.3:p.?	NC_000011.9:g.77085414C>A	(Likely) benign	1 lab	3b18fe67b5
18:54285360 TXNL1 G>GA	18	54285360	54285368	G	GA	TXNL1	c.370-4dup	NM_004786.3	NP_004777.1:p.?	NC_000018.9:g.54285368dup	(Likely) benign	1 lab	3b1937f4d9
15:99459981 IGF1R G>A	15	99459981	99459981	G	A	IGF1R	c.2077G>A	NM_000875.5	NP_000866.1:p.(Gly693Ser)	NC_000015.9:g.99459981G>A	(Likely) benign	1 lab	3b1958a506
6:118790728 CEP85L T>C	6	118790728	118790728	T	C	CEP85L	c.2023-262A>G	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118790728T>C	(Likely) benign	1 lab	3b1a90b736
12:54338914 HOXC13 G>GCGC	12	54338914	54338919	G	GCGC	HOXC13	c.870_872dup	NM_017410.3	NP_059106.2:p.(Arg292dup)	NC_000012.11:g.54338917_54338919dup	VUS	1 lab	1de4c63479
8:39606935 ADAM2 G>A	8	39606935	39606935	G	A	ADAM2	c.1910C>T	NM_001464.5	NP_001455.3:p.(Ala637Val)	NC_000008.10:g.39606935G>A	VUS	1 lab	3b1b50e27a
5:176665443 NSD1 C>T	5	176665443	176665443	C	T	NSD1	c.4127C>T	NM_022455.5	NP_071900.2:p.(Pro1376Leu)	NC_000005.9:g.176665443C>T	VUS	1 lab	3b1b6d7bac
16:70714694 MTSS2 C>G	16	70714694	70714694	C	G	MTSS2	c.205+3G>C	NM_138383.3	NP_612392.1:p.?	NC_000016.9:g.70714694C>G	(Likely) benign	1 lab	3b1dc50670
1:152286205 FLG G>C	1	152286205	152286205	G	C	FLG	c.1157C>G	NM_002016.2	NP_002007.1:p.(Ser386Cys)	NC_000001.10:g.152286205G>C	VUS	1 lab	3b1ddb48e0
X:24735712 POLA1 G>A	X	24735712	24735712	G	A	POLA1	c.924G>A	NM_001330360.2	NP_001317289.1:p.(Pro308=)	NC_000023.10:g.24735712G>A	VUS	1 lab	3b1e2631bc
1:153661755 NPR1 ACAGCG>A	1	153661755	153661761	ACAGCG	A	NPR1	c.2658_2662del	NM_000906.4	NP_000897.3:p.(Ala887ValfsTer15)	NC_000001.10:g.153661757_153661761del	VUS	1 lab	3b1e7701b6
17:26861788 FOXN1 C>T	17	26861788	26861788	C	T	FOXN1	c.1199C>T	NM_003593.2	NP_003584.2:p.(Pro400Leu)	NC_000017.10:g.26861788C>T	(Likely) benign	1 lab	1e57e660e7
19:1056917 ABCA7 C>T	19	1056917	1056917	C	T	ABCA7	c.4598C>T	NM_019112.4	NP_061985.2:p.(Ser1533Leu)	NC_000019.9:g.1056917C>T	VUS	1 lab	3b1fb52689
6:65707491 EYS C>A	6	65707491	65707491	C	A	EYS	c.2243G>T	NM_001142800.2	NP_001136272.1:p.(Cys748Phe)	NC_000006.11:g.65707491C>A	(Likely) benign	1 lab	3b201bad92
10:43607615 RET T>A	10	43607615	43607615	T	A	RET	c.1591T>A	NM_020975.6	NP_066124.1:p.(Cys531Ser)	NC_000010.10:g.43607615T>A	VUS	1 lab	3b20a0dae6
10:135020707 KNDC1 G>A	10	135020707	135020707	G	A	KNDC1	c.3646G>A	NM_152643.8	NP_689856.6:p.(Ala1216Thr)	NC_000010.10:g.135020707G>A	(Likely) benign	1 lab	3b20a4dc00
1:202698181 KDM5B C>A	1	202698181	202698181	C	A	KDM5B	c.4618G>T	NM_006618.5	NP_006609.3:p.(Ala1540Ser)	NC_000001.10:g.202698181C>A	(Likely) benign	1 lab	3b21db637f
1:45966051 MMACHC T>C	1	45966051	45966051	T	C	MMACHC	c.47T>C	NM_015506.3	NP_056321.2:p.(Leu16Pro)	NC_000001.10:g.45966051T>C	VUS	1 lab	3b22bb5ca7
17:29585414 NF1 T>A	17	29585414	29585414	T	A	NF1	c.4226T>A	NM_001042492.3	NP_001035957.1:p.(Met1409Lys)	NC_000017.10:g.29585414T>A	VUS	1 lab	3b236545e7
14:102348490 PPP2R5C G>A	14	102348490	102348490	G	A	PPP2R5C	c.460-8G>A	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102348490G>A	(Likely) benign	1 lab	3b2455c149
11:70033988 ANO1 A>G	11	70033988	70033988	A	G	ANO1	c.2839A>G	NM_018043.7	NP_060513.5:p.(Thr947Ala)	NC_000011.9:g.70033988A>G	(Likely) benign	1 lab	3b25a2f710
13:25473628 CPAP G>A	13	25473628	25473628	G	A	CPAP	c.2920C>T	NM_018451.5	NP_060921.3:p.(Arg974Cys)	NC_000013.10:g.25473628G>A	VUS	1 lab	3b2641816a
16:2090177 NTHL1 A>T	16	2090177	2090177	A	T	NTHL1	c.748T>A	NM_002528.7	NP_002519.2:p.(Ser250Thr)	NC_000016.9:g.2090177A>T	VUS	1 lab	3b26ee3a1b
10:51768674 AGAP6 CAA>C	10	51768674	51768677	CAA	C	AGAP6	c.791_792del	NM_001077665.3	NP_001071133.2:p.(Lys264ArgfsTer10)	NC_000010.10:g.51768676_51768677del	(Likely) benign	1 lab	3b29d86a84
1:210796895 HHAT G>A	1	210796895	210796895	G	A	HHAT	c.1271G>A	NM_018194.6	NP_060664.2:p.(Arg424His)	NC_000001.10:g.210796895G>A	VUS	1 lab	3b29f40901
15:34537523 SLC12A6 T>C	15	34537523	34537523	T	C	SLC12A6	c.1906A>G	NM_001365088.1	NP_001352017.1:p.(Ile636Val)	NC_000015.9:g.34537523T>C	VUS	1 lab	3b2adbee28
2:241696761 KIF1A G>C	2	241696761	241696761	G	C	KIF1A	c.2833C>G	NM_001244008.2	NP_001230937.1:p.(Pro945Ala)	NC_000002.11:g.241696761G>C	(Likely) benign	1 lab	3b2f46ea2a
16:49861707 ZNF423 C>CT	16	49861707	49861716	C	CT	ZNF423	c.40+27938dup	NM_001379286.1	NP_001366215.1:p.?	NC_000016.9:g.49861716dup	(Likely) benign	1 lab	3b31ae5c20
13:28197314 POLR1D T>C	13	28197314	28197314	T	C	POLR1D	c.329T>C	NM_015972.4	NP_057056.1:p.(Val110Ala)	NC_000013.10:g.28197314T>C	(Likely) benign	1 lab	3b328a993f
16:1250315 CACNA1H C>T	16	1250315	1250315	C	T	CACNA1H	c.863C>T	NM_021098.3	NP_066921.2:p.(Pro288Leu)	NC_000016.9:g.1250315C>T	VUS	1 lab	3b32aa9844
5:176638221 NSD1 C>G	5	176638221	176638221	C	G	NSD1	c.2821C>G	NM_022455.5	NP_071900.2:p.(Arg941Gly)	NC_000005.9:g.176638221C>G	(Likely) benign	1 lab	3b33abf4b5
1:35223047 GJB5 C>T	1	35223047	35223047	C	T	GJB5	c.116C>T	NM_005268.4	NP_005259.1:p.(Thr39Met)	NC_000001.10:g.35223047C>T	VUS	1 lab	3b3416bad6
12:42778771 PPHLN1 C>T	12	42778771	42778771	C	T	PPHLN1	c.541C>T	NM_201439.2	NP_958847.1:p.(Arg181Trp)	NC_000012.11:g.42778771C>T	(Likely) benign	1 lab	3b35126124
4:3215861 HTT C>T	4	3215861	3215861	C	T	HTT	c.6951C>T	NM_001388492.1	NP_001375421.1:p.(Ala2317=)	NC_000004.11:g.3215861C>T	(Likely) benign	1 lab	3b35131b3d
19:17039768 CPAMD8 C>T	19	17039768	17039768	C	T	CPAMD8	c.3128G>A	NM_015692.5	NP_056507.3:p.(Arg1043His)	NC_000019.9:g.17039768C>T	(Likely) benign	1 lab	3b36fa1a3b
4:153332894 FBXW7 C>T	4	153332894	153332894	C	T	FBXW7	c.62G>A	NM_001349798.2	NP_001336727.1:p.(Gly21Asp)	NC_000004.11:g.153332894C>T	VUS	1 lab	3b37bf3662
8:145009237 PLEC G>A	8	145009237	145009237	G	A	PLEC	c.767C>T	NM_201384.3	NP_958786.1:p.(Ser256Leu)	NC_000008.10:g.145009237G>A	VUS	1 lab	3b3977c016
17:38320381 CASC3 C>T	17	38320381	38320381	C	T	CASC3	c.1433C>T	NM_007359.5	NP_031385.2:p.(Pro478Leu)	NC_000017.10:g.38320381C>T	(Likely) benign	1 lab	3b3c3375a5
1:1271814 DVL1 C>T	1	1271814	1271814	C	T	DVL1	c.1796G>A	NM_001330311.2	NP_001317240.1:p.(Gly599Asp)	NC_000001.10:g.1271814C>T	VUS	1 lab	3b3e518de7
4:122744765 CCNA2 G>A	4	122744765	122744765	G	A	CCNA2	c.19C>T	NM_001237.5	NP_001228.2:p.(Pro7Ser)	NC_000004.11:g.122744765G>A	VUS	1 lab	3b3f0eea73
9:131388662 SPTAN1 G>A	9	131388662	131388662	G	A	SPTAN1	c.6280-8G>A	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131388662G>A	VUS	1 lab	3b3f5ef2de
19:58370966 ZNF587 G>A	19	58370966	58370966	G	A	ZNF587	c.1186G>A	NM_032828.4	NP_116217.1:p.(Val396Ile)	NC_000019.9:g.58370966G>A	(Likely) benign	1 lab	3b41ad5b4a
16:89595995 SPG7 C>G	16	89595995	89595995	C	G	SPG7	c.861+8C>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89595995C>G	(Likely) benign	1 lab	3b424eabd2
1:86315095 COL24A1 A>G	1	86315095	86315095	A	G	COL24A1	c.3301-6T>C	NM_152890.7	NP_690850.2:p.?	NC_000001.10:g.86315095A>G	(Likely) benign	1 lab	3b4316d034
10:99968214 R3HCC1L G>C	10	99968214	99968214	G	C	R3HCC1L	c.343G>C	NM_001351015.2	NP_001337944.2:p.(Glu115Gln)	NC_000010.10:g.99968214G>C	VUS	1 lab	3b431b829c
12:57863433 GLI1 C>T	12	57863433	57863433	C	T	GLI1	c.1528C>T	NM_005269.3	NP_005260.1:p.(Arg510Trp)	NC_000012.11:g.57863433C>T	(Likely) benign	1 lab	3b441c4638
15:89398940 ACAN A>G	15	89398940	89398940	A	G	ACAN	c.3124A>G	NM_001369268.1	NP_001356197.1:p.(Thr1042Ala)	NC_000015.9:g.89398940A>G	(Likely) benign	1 lab	3b463a1441
15:101514095 LRRK1 T>TGC	15	101514095	101514096	T	TGC	LRRK1	c.184_185insGC	NM_024652.6	NP_078928.3:p.(Tyr62CysfsTer31)	NC_000015.9:g.101514095_101514096insGC	VUS	1 lab	3b46518278
16:2150405 PKD1 T>C	16	2150405	2150405	T	C	PKD1	c.9560A>G	NM_001009944.3	NP_001009944.3:p.(Asp3187Gly)	NC_000016.9:g.2150405T>C	VUS	1 lab	3b46ca0917
16:72984739 ZFHX3 C>T	16	72984739	72984739	C	T	ZFHX3	c.2845G>A	NM_006885.4	NP_008816.3:p.(Val949Ile)	NC_000016.9:g.72984739C>T	(Likely) benign	1 lab	3b47b15422
2:223520788 FARSB G>A	2	223520788	223520788	G	A	FARSB	c.5C>T	NM_005687.5	NP_005678.3:p.(Pro2Leu)	NC_000002.11:g.223520788G>A	VUS	1 lab	3b48bd2cd3
5:121188212 FTMT G>A	5	121188212	121188212	G	A	FTMT	c.554G>A	NM_177478.2	NP_803431.1:p.(Gly185Asp)	NC_000005.9:g.121188212G>A	VUS	1 lab	3b48bf52ad
17:650298 GEMIN4 C>T	17	650298	650298	C	T	GEMIN4	c.985G>A	NM_015721.3	NP_056536.2:p.(Glu329Lys)	NC_000017.10:g.650298C>T	(Likely) benign	1 lab	3b4943404f
5:172660156 NKX2-5 C>G	5	172660156	172660156	C	G	NKX2-5	c.391G>C	NM_004387.4	NP_004378.1:p.(Glu131Gln)	NC_000005.9:g.172660156C>G	VUS	1 lab	3b4b690001
7:99767933 GPC2 C>A	7	99767933	99767933	C	A	GPC2	c.1660G>T	NM_152742.3	NP_689955.1:p.(Gly554Trp)	NC_000007.13:g.99767933C>A	VUS	1 lab	3b4c03e357
10:73583651 PSAP C>T	10	73583651	73583651	C	T	PSAP	c.778-1887G>A	NM_002778.4	NP_002769.1:p.?	NC_000010.10:g.73583651C>T	(Likely) benign	1 lab	3b4e40e0e2
6:35196466 SCUBE3 G>A	6	35196466	35196466	G	A	SCUBE3	c.284G>A	NM_152753.4	NP_689966.2:p.(Cys95Tyr)	NC_000006.11:g.35196466G>A	VUS	1 lab	3b50f1b827
3:3192733 CRBN A>G	3	3192733	3192733	A	G	CRBN	c.1149-4T>C	NM_016302.4	NP_057386.2:p.?	NC_000003.11:g.3192733A>G	(Likely) benign	1 lab	3b54ef0abb
1:228467969 OBSCN G>C	1	228467969	228467969	G	C	OBSCN	c.9040G>C	NM_001386125.1	NP_001373054.1:p.(Asp3014His)	NC_000001.10:g.228467969G>C	(Likely) benign	1 lab	3b56ab36eb
11:20668453 SLC6A5 G>A	11	20668453	20668453	G	A	SLC6A5	c.2043G>A	NM_004211.5	NP_004202.4:p.(Trp681Ter)	NC_000011.9:g.20668453G>A	VUS	1 lab	3b57088b13
15:75676597 SIN3A A>C	15	75676597	75676597	A	C	SIN3A	c.3195+8T>G	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75676597A>C	(Likely) benign	1 lab	3b582d7bc4
9:133280397 HMCN2 G>A	9	133280397	133280397	G	A	HMCN2	c.12290G>A	NM_001291815.2	NP_001278744.1:p.(Gly4097Glu)	NC_000009.11:g.133280397G>A	(Likely) benign	1 lab	3b58ee239c
6:44121523 TMEM63B G>A	6	44121523	44121523	G	A	TMEM63B	c.2053G>A	NM_018426.3	NP_060896.1:p.(Val685Met)	NC_000006.11:g.44121523G>A	VUS	1 lab	3b59e5c45a
1:52862043 ORC1 T>G	1	52862043	52862043	T	G	ORC1	c.403-7A>C	NM_004153.4	NP_004144.2:p.?	NC_000001.10:g.52862043T>G	(Likely) benign	1 lab	3b5a28a500
21:43242288 PRDM15 G>T	21	43242288	43242288	G	T	PRDM15	c.1867C>A	NM_001040424.3	NP_001035514.2:p.(Pro623Thr)	NC_000021.8:g.43242288G>T	VUS	1 lab	1de6adc036
3:49569737 DAG1 G>A	3	49569737	49569737	G	A	DAG1	c.1793G>A	NM_004393.6	NP_004384.5:p.(Arg598His)	NC_000003.11:g.49569737G>A	VUS	1 lab	3b5b654914
13:111138063 COL4A2 C>T	13	111138063	111138063	C	T	COL4A2	c.3087C>T	NM_001846.4	NP_001837.2:p.(Pro1029=)	NC_000013.10:g.111138063C>T	(Likely) benign	1 lab	3b5b8a0834
19:4556060 SEMA6B G>C	19	4556060	4556060	G	C	SEMA6B	c.411C>G	NM_032108.4	NP_115484.2:p.(Asp137Glu)	NC_000019.9:g.4556060G>C	VUS	1 lab	3b5bcf8aba
19:47865841 DHX34 C>G	19	47865841	47865841	C	G	DHX34	c.1484C>G	NM_014681.6	NP_055496.2:p.(Thr495Arg)	NC_000019.9:g.47865841C>G	VUS	1 lab	3b5d2378c6
5:131911540 RAD50 TG>T	5	131911540	131911541	TG	T	RAD50	c.286del	NM_005732.4	NP_005723.2:p.(Val96CysfsTer34)	NC_000005.9:g.131911541del	VUS	1 lab	3b5d634c3c
22:20043504 TANGO2 G>A	22	20043504	20043504	G	A	TANGO2	c.419G>A	NM_152906.7	NP_690870.3:p.(Arg140Gln)	NC_000022.10:g.20043504G>A	(Likely) benign	1 lab	3b603943f6
6:157434119 ARID1B G>A	6	157434119	157434119	G	A	ARID1B	c.2581+2424G>A	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157434119G>A	(Likely) benign	1 lab	3b61a61193
10:19856510 MALRD1 G>A	10	19856510	19856510	G	A	MALRD1	c.5558G>A	NM_001142308.3	NP_001135780.2:p.(Gly1853Asp)	NC_000010.10:g.19856510G>A	VUS	1 lab	3b6315c755
X:54209302 FAM120C G>GGGC	X	54209302	54209317	G	GGGC	FAM120C	c.327_329dup	NM_017848.6	NP_060318.4:p.(Pro111dup)	NC_000023.10:g.54209315_54209317dup	VUS	1 lab	3b6383a1ea
7:780513 DNAAF5 T>C	7	780513	780513	T	C	DNAAF5	c.838T>C	NM_017802.4	NP_060272.3:p.(Tyr280His)	NC_000007.13:g.780513T>C	VUS	1 lab	3b672c7dcc
16:1817733 MAPK8IP3 C>T	16	1817733	1817733	C	T	MAPK8IP3	c.3406C>T	NM_001318852.2	NP_001305781.1:p.(Leu1136=)	NC_000016.9:g.1817733C>T	(Likely) benign	1 lab	3b67598ce3
10:26490193 MYO3A G>A	10	26490193	26490193	G	A	MYO3A	c.4546-1G>A	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26490193G>A	VUS	1 lab	3b68a31010
2:220440183 INHA G>C	2	220440183	220440183	G	C	INHA	c.1036G>C	NM_002191.4	NP_002182.1:p.(Gly346Arg)	NC_000002.11:g.220440183G>C	VUS	1 lab	3b692ff6aa
17:48423536 XYLT2 G>A	17	48423536	48423536	G	A	XYLT2	c.35G>A	NM_022167.4	NP_071450.2:p.(Arg12Gln)	NC_000017.10:g.48423536G>A	VUS	1 lab	3b6979ffe1
X:122799491 THOC2 A>G	X	122799491	122799491	A	G	THOC2	c.1386+2T>C	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122799491A>G	(Likely) pathogenic	1 lab	3b6aa05f39
1:39782063 MACF1 G>A	1	39782063	39782063	G	A	MACF1	c.3450G>A	NM_001394062.1	NP_001380991.1:p.(Lys1150=)	NC_000001.10:g.39782063G>A	(Likely) benign	1 lab	3b6af81f29
11:55035847 TRIM48 A>T	11	55035847	55035847	A	T	TRIM48	c.577A>T	NM_024114.5	NP_077019.2:p.(Arg193Trp)	NC_000011.9:g.55035847A>T	(Likely) benign	1 lab	3b6c465b4e
19:10742804 SLC44A2 C>T	19	10742804	10742804	C	T	SLC44A2	c.795C>T	NM_020428.4	NP_065161.3:p.(Ile265=)	NC_000019.9:g.10742804C>T	VUS	1 lab	3b6f2650de
16:10031969 GRIN2A T>G	16	10031969	10031969	T	G	GRIN2A	c.854A>C	NM_001134407.3	NP_001127879.1:p.(Asp285Ala)	NC_000016.9:g.10031969T>G	VUS	1 lab	3b6f27c9bd
16:5141795 EEF2KMT C>G	16	5141795	5141795	C	G	EEF2KMT	c.342G>C	NM_201400.4	NP_958802.1:p.(Leu114=)	NC_000016.9:g.5141795C>G	VUS	1 lab	3b7345a64d
2:135308153 TMEM163 T>C	2	135308153	135308153	T	C	TMEM163	c.446A>G	NM_030923.5	NP_112185.1:p.(His149Arg)	NC_000002.11:g.135308153T>C	(Likely) benign	1 lab	3b74f78387
5:98209323 CHD1 T>C	5	98209323	98209323	T	C	CHD1	c.3545A>G	NM_001270.4	NP_001261.2:p.(Asp1182Gly)	NC_000005.9:g.98209323T>C	VUS	1 lab	3b771f075a
20:47626881 ARFGEF2 G>A	20	47626881	47626881	G	A	ARFGEF2	c.3697G>A	NM_006420.3	NP_006411.2:p.(Ala1233Thr)	NC_000020.10:g.47626881G>A	VUS	1 lab	3b78161da4
X:152710480 TREX2 G>A	X	152710480	152710480	G	A	TREX2	c.409C>T	NM_080701.4	NP_542432.2:p.(Arg137Cys)	NC_000023.10:g.152710480G>A	VUS	1 lab	3b78354a29
10:124345797 DMBT1 G>A	10	124345797	124345797	G	A	DMBT1	c.1681G>A	NM_001377530.1	NP_001364459.1:p.(Val561Met)	NC_000010.10:g.124345797G>A	(Likely) benign	1 lab	3b788d2ce3
12:57587715 LRP1 G>A	12	57587715	57587715	G	A	LRP1	c.7838G>A	NM_002332.3	NP_002323.2:p.(Arg2613Gln)	NC_000012.11:g.57587715G>A	(Likely) benign	1 lab	3b79845acc
20:62321444 RTEL1 G>T	20	62321444	62321444	G	T	RTEL1	c.2146G>T	NM_001283009.2	NP_001269938.1:p.(Ala716Ser)	NC_000020.10:g.62321444G>T	(Likely) benign	1 lab	3b79a8f499
3:49689019 BSN C>T	3	49689019	49689019	C	T	BSN	c.2030C>T	NM_003458.4	NP_003449.2:p.(Pro677Leu)	NC_000003.11:g.49689019C>T	VUS	1 lab	3b7a55189b
2:29247018 TOGARAM2 G>C	2	29247018	29247018	G	C	TOGARAM2	c.1631G>C	NM_199280.4	NP_954974.2:p.(Arg544Pro)	NC_000002.11:g.29247018G>C	VUS	1 lab	3b7b5ae4f8
2:238275353 COL6A3 G>C	2	238275353	238275353	G	C	COL6A3	c.5477C>G	NM_004369.4	NP_004360.2:p.(Pro1826Arg)	NC_000002.11:g.238275353G>C	(Likely) benign	1 lab	3b7c581801
11:22291884 ANO5 G>A	11	22291884	22291884	G	A	ANO5	c.1925G>A	NM_213599.3	NP_998764.1:p.(Arg642Gln)	NC_000011.9:g.22291884G>A	VUS	1 lab	3b7da0952f
2:230725194 TRIP12 T>C	2	230725194	230725194	T	C	TRIP12	c.152A>G	NM_001348323.3	NP_001335252.1:p.(Lys51Arg)	NC_000002.11:g.230725194T>C	(Likely) benign	1 lab	3b828cf756
2:219920483 IHH G>A	2	219920483	219920483	G	A	IHH	c.682C>T	NM_002181.4	NP_002172.2:p.(Arg228Cys)	NC_000002.11:g.219920483G>A	VUS	1 lab	3b8291188c
19:39408360 SARS2 A>G	19	39408360	39408360	A	G	SARS2	c.1166+4T>C	NM_001145901.2	NP_001139373.1:p.?	NC_000019.9:g.39408360A>G	(Likely) benign	1 lab	1deb523a1f
17:78013604 CCDC40 T>C	17	78013604	78013604	T	C	CCDC40	c.94-7T>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78013604T>C	VUS	1 lab	3b84db6848
19:11169499 SMARCA4 C>T	19	11169499	11169499	C	T	SMARCA4	c.4569C>T	NM_003072.5	NP_003063.2:p.(Asn1523=)	NC_000019.9:g.11169499C>T	(Likely) benign	1 lab	3b88806b8b
6:137193334 PEX7 A>T	6	137193334	137193334	A	T	PEX7	c.748-2A>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193334A>T	(Likely) benign	1 lab	3b89387cbe
18:10748526 PIEZO2 C>T	18	10748526	10748526	C	T	PIEZO2	c.4367G>A	NM_001378183.1	NP_001365112.1:p.(Ser1456Asn)	NC_000018.9:g.10748526C>T	VUS	1 lab	3b8964df54
2:96947633 SNRNP200 C>T	2	96947633	96947633	C	T	SNRNP200	c.4943G>A	NM_014014.5	NP_054733.2:p.(Arg1648Gln)	NC_000002.11:g.96947633C>T	VUS	1 lab	3b897400b6
17:30791079 PSMD11 T>A	17	30791079	30791079	T	A	PSMD11	c.331T>A	NM_002815.4	NP_002806.2:p.(Leu111Ile)	NC_000017.10:g.30791079T>A	(Likely) benign	1 lab	3b8a1bfc92
17:16229183 PIGL A>C	17	16229183	16229183	A	C	PIGL	c.730A>C	NM_004278.4	NP_004269.1:p.(Met244Leu)	NC_000017.10:g.16229183A>C	(Likely) benign	1 lab	3b8a20bf4f
2:47739551 KCNK12 A>G	2	47739551	47739551	A	G	KCNK12	c.*8495T>C	NM_022055.2	NP_071338.1:p.?	NC_000002.11:g.47739551A>G	(Likely) benign	1 lab	1df03d6927
X:129265722 AIFM1 T>A	X	129265722	129265722	T	A	AIFM1	c.1501A>T	NM_004208.4	NP_004199.1:p.(Ser501Cys)	NC_000023.10:g.129265722T>A	VUS	1 lab	3b8ba9a668
X:48930134 PRAF2 C>G	X	48930134	48930134	C	G	PRAF2	c.355G>C	NM_007213.3	NP_009144.1:p.(Gly119Arg)	NC_000023.10:g.48930134C>G	VUS	1 lab	3b8c3cbd3b
2:74604825 DCTN1 G>A	2	74604825	74604825	G	A	DCTN1	c.308C>T	NM_004082.5	NP_004073.2:p.(Thr103Ile)	NC_000002.11:g.74604825G>A	VUS	1 lab	3b8e3d95ba
6:84563139 RIPPLY2 G>T	6	84563139	84563139	G	T	RIPPLY2	c.4G>T	NM_001009994.3	NP_001009994.1:p.(Glu2Ter)	NC_000006.11:g.84563139G>T	VUS	1 lab	3b8f1ef56d
X:65819392 EDA2R T>TC	X	65819392	65819398	T	TC	EDA2R	c.827dup	NM_021783.5	NP_068555.2:p.(Asn277LysfsTer17)	NC_000023.10:g.65819398dup	(Likely) pathogenic	1 lab	3b90e2706d
2:241808595 AGXT C>A	2	241808595	241808595	C	A	AGXT	c.174C>A	NM_000030.3	NP_000021.1:p.(Asp58Glu)	NC_000002.11:g.241808595C>A	VUS	1 lab	3b91c22a35
X:37658209 CYBB C>T	X	37658209	37658209	C	T	CYBB	c.676C>T	NM_000397.3	NP_000388.2:p.(Arg226Ter)	NC_000023.10:g.37658209C>T	(Likely) pathogenic	1 lab	1e58142f00
2:109369490 RANBP2 T>C	2	109369490	109369490	T	C	RANBP2	c.1792T>C	NM_006267.5	NP_006258.3:p.(Tyr598His)	NC_000002.11:g.109369490T>C	VUS	1 lab	3b92a82f68
14:105196402 ADSS1 C>G	14	105196402	105196402	C	G	ADSS1	c.193-4955C>G	NM_152328.5	NP_689541.1:p.?	NC_000014.8:g.105196402C>G	(Likely) benign	1 lab	3b93414b26
4:178363512 AGA G>T	4	178363512	178363512	G	T	AGA	c.18C>A	NM_000027.4	NP_000018.2:p.(Asn6Lys)	NC_000004.11:g.178363512G>T	VUS	1 lab	3b967bc6df
12:49426801 KMT2D G>T	12	49426801	49426801	G	T	KMT2D	c.11687C>A	NM_003482.4	NP_003473.3:p.(Ser3896Tyr)	NC_000012.11:g.49426801G>T	VUS	1 lab	3b98ed5f31
20:60902402 LAMA5 G>A	20	60902402	60902402	G	A	LAMA5	c.4999C>T	NM_005560.6	NP_005551.3:p.(Arg1667Trp)	NC_000020.10:g.60902402G>A	(Likely) benign	1 lab	3b9bd69760
2:230744708 TRIP12 T>C	2	230744708	230744708	T	C	TRIP12	c.88A>G	NM_001348323.3	NP_001335252.1:p.(Ile30Val)	NC_000002.11:g.230744708T>C	(Likely) benign	1 lab	3b9c6f5349
3:50289864 GNAI2 G>A	3	50289864	50289864	G	A	GNAI2	c.197G>A	NM_002070.4	NP_002061.1:p.(Cys66Tyr)	NC_000003.11:g.50289864G>A	(Likely) benign	1 lab	3b9d3f4b59
10:61831067 ANK3 G>T	10	61831067	61831067	G	T	ANK3	c.9572C>A	NM_020987.5	NP_066267.2:p.(Ala3191Asp)	NC_000010.10:g.61831067G>T	(Likely) benign	1 lab	3b9d4ac986
12:51097971 DIP2B A>G	12	51097971	51097971	A	G	DIP2B	c.2374A>G	NM_173602.3	NP_775873.2:p.(Ile792Val)	NC_000012.11:g.51097971A>G	(Likely) benign	1 lab	3b9e187510
15:40488907 BUB1B T>G	15	40488907	40488907	T	G	BUB1B	c.1220T>G	NM_001211.6	NP_001202.5:p.(Val407Gly)	NC_000015.9:g.40488907T>G	VUS	1 lab	3b9edc9fff
2:63631524 WDPCP T>C	2	63631524	63631524	T	C	WDPCP	c.1094A>G	NM_015910.7	NP_056994.3:p.(Glu365Gly)	NC_000002.11:g.63631524T>C	VUS	1 lab	3b9fb37d6e
5:13886243 DNAH5 C>A	5	13886243	13886243	C	A	DNAH5	c.2578-5G>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886243C>A	(Likely) benign	1 lab	3b9fd61bef
7:148543643 EZH2 G>C	7	148543643	148543643	G	C	EZH2	c.165C>G	NM_004456.5	NP_004447.2:p.(Ile55Met)	NC_000007.13:g.148543643G>C	(Likely) benign	1 lab	3b9fe48c1a
8:145700269 FOXH1 G>A	8	145700269	145700269	G	A	FOXH1	c.450C>T	NM_003923.3	NP_003914.1:p.(His150=)	NC_000008.10:g.145700269G>A	(Likely) benign	1 lab	3ba0505792
4:2758003 TNIP2 G>A	4	2758003	2758003	G	A	TNIP2	c.14C>T	NM_024309.4	NP_077285.3:p.(Pro5Leu)	NC_000004.11:g.2758003G>A	(Likely) benign	1 lab	3ba178af28
3:32995914 CCR4 C>T	3	32995914	32995914	C	T	CCR4	c.1000C>T	NM_005508.5	NP_005499.1:p.(Leu334Phe)	NC_000003.11:g.32995914C>T	VUS	1 lab	3ba1b7e8fd
17:34853485 MYO19 G>A	17	34853485	34853485	G	A	MYO19	c.2757+625C>T	NM_001163735.2	NP_001157207.1:p.?	NC_000017.10:g.34853485G>A	VUS	1 lab	3ba2ab655a
2:26410998 GAREM2 C>T	2	26410998	26410998	C	T	GAREM2	c.2497C>T	NM_001168241.2	NP_001161713.1:p.(Arg833Ter)	NC_000002.11:g.26410998C>T	VUS	1 lab	3ba2ef8931
17:33585885 SLFN5 A>G	17	33585885	33585885	A	G	SLFN5	c.176A>G	NM_144975.4	NP_659412.3:p.(Lys59Arg)	NC_000017.10:g.33585885A>G	(Likely) benign	1 lab	3ba32033a2
1:225267212 DNAH14 A>G	1	225267212	225267212	A	G	DNAH14	c.2728A>G	NM_001367479.1	NP_001354408.1:p.(Ser910Gly)	NC_000001.10:g.225267212A>G	(Likely) benign	1 lab	3ba4368ecf
3:197427747 RUBCN C>T	3	197427747	197427747	C	T	RUBCN	c.998G>A	NM_014687.4	NP_055502.1:p.(Arg333Gln)	NC_000003.11:g.197427747C>T	(Likely) benign	1 lab	3ba4cae9df
7:151877986 KMT2C T>C	7	151877986	151877986	T	C	KMT2C	c.6959A>G	NM_170606.3	NP_733751.2:p.(His2320Arg)	NC_000007.13:g.151877986T>C	(Likely) benign	1 lab	3ba5033718
6:33137261 COL11A2 G>A	6	33137261	33137261	G	A	COL11A2	c.3697C>T	NM_080680.3	NP_542411.2:p.(Arg1233Cys)	NC_000006.11:g.33137261G>A	VUS	1 lab	3ba53db460
16:54145943 FTO C>T	16	54145943	54145943	C	T	FTO	c.*116C>T	NM_001080432.3	NP_001073901.1:p.?	NC_000016.9:g.54145943C>T	(Likely) benign	1 lab	3ba7238922
6:152532711 SYNE1 C>T	6	152532711	152532711	C	T	SYNE1	c.22507G>A	NM_182961.4	NP_892006.3:p.(Glu7503Lys)	NC_000006.11:g.152532711C>T	VUS	1 lab	3ba7f27d3d
1:233394331 PCNX2 A>T	1	233394331	233394331	A	T	PCNX2	c.1277T>A	NM_014801.4	NP_055616.3:p.(Ile426Asn)	NC_000001.10:g.233394331A>T	(Likely) benign	1 lab	3ba85c0a4a
X:117772084 DOCK11 T>C	X	117772084	117772084	T	C	DOCK11	c.3995T>C	NM_144658.4	NP_653259.3:p.(Ile1332Thr)	NC_000023.10:g.117772084T>C	(Likely) benign	1 lab	3ba869b1a5
1:39854242 MACF1 C>T	1	39854242	39854242	C	T	MACF1	c.15728C>T	NM_001394062.1	NP_001380991.1:p.(Ala5243Val)	NC_000001.10:g.39854242C>T	(Likely) benign	1 lab	3baa4b7b4b
20:5933072 MCM8 C>T	20	5933072	5933072	C	T	MCM8	c.151C>T	NM_032485.6	NP_115874.3:p.(Gln51Ter)	NC_000020.10:g.5933072C>T	VUS	1 lab	3bac1f0b76
6:15496357 JARID2 C>T	6	15496357	15496357	C	T	JARID2	c.907-6C>T	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15496357C>T	(Likely) benign	1 lab	3bac24d30c
5:177421248 PROP1 G>T	5	177421248	177421248	G	T	PROP1	c.201C>A	NM_006261.5	NP_006252.4:p.(His67Gln)	NC_000005.9:g.177421248G>T	VUS	1 lab	3bac8a62f1
14:68251829 ZFYVE26 C>G	14	68251829	68251829	C	G	ZFYVE26	c.3470G>C	NM_015346.4	NP_056161.2:p.(Ser1157Thr)	NC_000014.8:g.68251829C>G	(Likely) benign	1 lab	3bad64340f
19:30193863 C19orf12 AACAGCCCCCCG>A	19	30193863	30193884	AACAGCCCCCCG	A	C19orf12	c.171_181del	NM_031448.6	NP_113636.2:p.(Gly58ArgfsTer10)	NC_000019.9:g.30193874_30193884del	(Likely) pathogenic	1 lab	1df2f003bf
2:179642603 TTN TCTTGCAGGGGACATCCGTGCAGGAGACATC>T	2	179642603	179642641	TCTTGCAGGGGACATCCGTGCAGGAGACATC	T	TTN	c.4278_4307del	NM_001267550.2	NP_001254479.2:p.(Ala1430_Pro1439del)	NC_000002.11:g.179642612_179642641del	VUS	1 lab	3bae246988
15:64066996 HERC1 G>T	15	64066996	64066996	G	T	HERC1	c.827C>A	NM_003922.4	NP_003913.3:p.(Ala276Glu)	NC_000015.9:g.64066996G>T	VUS	1 lab	3baf0140bd
1:103343631 COL11A1 C>T	1	103343631	103343631	C	T	COL11A1	c.5365G>A	NM_001854.4	NP_001845.3:p.(Gly1789Ser)	NC_000001.10:g.103343631C>T	VUS	1 lab	3baf3f6973
13:60348387 DIAPH3 TA>T	13	60348387	60348398	TA	T	DIAPH3	c.3260-6del	NM_001042517.2	NP_001035982.1:p.?	NC_000013.10:g.60348398del	(Likely) benign	1 lab	3bb0975aa0
11:46912010 LRP4 C>T	11	46912010	46912010	C	T	LRP4	c.1733G>A	NM_002334.4	NP_002325.2:p.(Arg578His)	NC_000011.9:g.46912010C>T	VUS	1 lab	3bb1117b30
13:28494673 PDX1 A>G	13	28494673	28494673	A	G	PDX1	c.398A>G	NM_000209.4	NP_000200.1:p.(Gln133Arg)	NC_000013.10:g.28494673A>G	(Likely) benign	1 lab	3bb13db031
3:172165626 GHSR C>T	3	172165626	172165626	C	T	GHSR	c.578G>A	NM_198407.2	NP_940799.1:p.(Trp193Ter)	NC_000003.11:g.172165626C>T	VUS	1 lab	3bb1de6025
3:157146286 VEPH1 G>A	3	157146286	157146286	G	A	VEPH1	c.530-9C>T	NM_001167912.2	NP_001161384.1:p.?	NC_000003.11:g.157146286G>A	(Likely) benign	1 lab	3bb238cd91
14:105834855 PACS2 A>G	14	105834855	105834855	A	G	PACS2	c.720A>G	NM_001100913.3	NP_001094383.2:p.(Val240=)	NC_000014.8:g.105834855A>G	(Likely) benign	1 lab	3bb2c2478e
19:3119284 GNA11 C>A	19	3119284	3119284	C	A	GNA11	c.816C>A	NM_002067.5	NP_002058.2:p.(Phe272Leu)	NC_000019.9:g.3119284C>A	VUS	1 lab	3bb2c7856e
20:32247539 NECAB3 C>G	20	32247539	32247539	C	G	NECAB3	c.644-1G>C	NM_031232.4	NP_112509.3:p.?	NC_000020.10:g.32247539C>G	VUS	1 lab	3bb2ccba20
5:169064381 DOCK2 C>T	5	169064381	169064381	C	T	DOCK2	c.43+8C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169064381C>T	(Likely) benign	1 lab	3bb3cb6db1
12:88500877 CEP290 T>G	12	88500877	88500877	T	G	CEP290	c.2484-2A>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88500877T>G	(Likely) pathogenic	1 lab	3bb45ff4a7
4:114203821 ANK2 T>C	4	114203821	114203821	T	C	ANK2	c.1882-10T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114203821T>C	(Likely) benign	1 lab	3bb4b8911c
20:18143551 KAT14 A>T	20	18143551	18143551	A	T	KAT14	c.1630A>T	NM_001392073.1	NP_001379002.1:p.(Thr544Ser)	NC_000020.10:g.18143551A>T	(Likely) benign	1 lab	3bb6f1f825
20:60903022 LAMA5 G>A	20	60903022	60903022	G	A	LAMA5	c.4697C>T	NM_005560.6	NP_005551.3:p.(Pro1566Leu)	NC_000020.10:g.60903022G>A	VUS	1 lab	3bb7351f1e
2:55874565 PNPT1 C>A	2	55874565	55874565	C	A	PNPT1	c.1519G>T	NM_033109.5	NP_149100.2:p.(Ala507Ser)	NC_000002.11:g.55874565C>A	VUS	1 lab	3bb9c21a76
3:113377317 USF3 T>G	3	113377317	113377317	T	G	USF3	c.3212A>C	NM_001009899.4	NP_001009899.3:p.(Gln1071Pro)	NC_000003.11:g.113377317T>G	VUS	1 lab	3bba106e55
6:33419615 SYNGAP1 G>GCCC	6	33419615	33419619	G	GCCC	SYNGAP1	c.3966_3968dup	NM_006772.3	NP_006763.2:p.(Pro1327dup)	NC_000006.11:g.33419617_33419619dup	(Likely) benign	1 lab	3bbaf765ed
12:120204990 CIT GAC>G	12	120204990	120204995	GAC	G	CIT	c.2209-6_2209-5del	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120204994_120204995del	(Likely) benign	1 lab	3bbea2834e
12:23893920 SOX5 G>A	12	23893920	23893920	G	A	SOX5	c.622C>T	NM_006940.6	NP_008871.3:p.(Gln208Ter)	NC_000012.11:g.23893920G>A	VUS	1 lab	3bbf8cb9f7
10:5242286 AKR1C4 G>C	10	5242286	5242286	G	C	AKR1C4	c.227G>C	NM_001818.5	NP_001809.4:p.(Arg76Thr)	NC_000010.10:g.5242286G>C	VUS	1 lab	3bbfd9d825
X:66943558 AR G>A	X	66943558	66943558	G	A	AR	c.2638G>A	NM_000044.6	NP_000035.2:p.(Asp880Asn)	NC_000023.10:g.66943558G>A	VUS	1 lab	3bc25e1542
17:78093353 GAA C>T	17	78093353	78093353	C	T	GAA	c.*223C>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78093353C>T	(Likely) benign	1 lab	1e5e1d0a15
3:49692040 BSN T>G	3	49692040	49692040	T	G	BSN	c.5051T>G	NM_003458.4	NP_003449.2:p.(Met1684Arg)	NC_000003.11:g.49692040T>G	VUS	1 lab	3bc3fc84e5
15:65946293 SLC24A1 T>C	15	65946293	65946293	T	C	SLC24A1	c.3176T>C	NM_004727.3	NP_004718.1:p.(Ile1059Thr)	NC_000015.9:g.65946293T>C	VUS	1 lab	3bc4800513
X:48049605 SSX5 T>A	X	48049605	48049605	T	A	SSX5	c.430A>T	NM_175723.2	NP_783729.1:p.(Lys144Ter)	NC_000023.10:g.48049605T>A	VUS	1 lab	3bc4a18a22
7:116199190 CAV1 C>T	7	116199190	116199190	C	T	CAV1	c.386C>T	NM_001753.5	NP_001744.2:p.(Ala129Val)	NC_000007.13:g.116199190C>T	VUS	1 lab	3bc50195d6
16:71113852 HYDIN GCCT>G	16	71113852	71113856	GCCT	G	HYDIN	c.1671_1673del	NM_001270974.2	NP_001257903.1:p.(Arg557_Gly558delinsSer)	NC_000016.9:g.71113854_71113856del	VUS	1 lab	3bc52f17ba
16:597040 CAPN15 G>A	16	597040	597040	G	A	CAPN15	c.202G>A	NM_005632.3	NP_005623.1:p.(Gly68Ser)	NC_000016.9:g.597040G>A	VUS	1 lab	3bc7dc5b9f
4:54347973 LNX1 G>A	4	54347973	54347973	G	A	LNX1	c.1399C>T	NM_001126328.3	NP_001119800.1:p.(Arg467Trp)	NC_000004.11:g.54347973G>A	VUS	1 lab	3bca3e8709
5:171766404 SH3PXD2B T>A	5	171766404	171766404	T	A	SH3PXD2B	c.1705A>T	NM_001017995.3	NP_001017995.1:p.(Ile569Phe)	NC_000005.9:g.171766404T>A	VUS	1 lab	3bcaf695ab
17:10351819 MYH4 G>T	17	10351819	10351819	G	T	MYH4	c.4550C>A	NM_017533.2	NP_060003.2:p.(Thr1517Lys)	NC_000017.10:g.10351819G>T	VUS	1 lab	3bcbaf621d
14:45644816 FANCM A>C	14	45644816	45644816	A	C	FANCM	c.2859A>C	NM_020937.4	NP_065988.1:p.(Lys953Asn)	NC_000014.8:g.45644816A>C	(Likely) benign	1 lab	3bccf974e3
2:208631834 FZD5 C>T	2	208631834	208631834	C	T	FZD5	c.1630G>A	NM_003468.4	NP_003459.2:p.(Gly544Ser)	NC_000002.11:g.208631834C>T	VUS	1 lab	3bcd3574e3
12:49445093 KMT2D C>T	12	49445093	49445093	C	T	KMT2D	c.2373G>A	NM_003482.3	NP_003473.3:p.(Gln791=)	NC_000012.11:g.49445093C>T	(Likely) benign	1 lab	1e62b6e918
3:186917512 RTP1 AC>A	3	186917512	186917513	AC	A	RTP1	c.447del	NM_153708.3	NP_714919.2:p.(Asn149LysfsTer103)	NC_000003.11:g.186917513del	VUS	1 lab	3bce0e45a2
15:31218058 FAN1 G>A	15	31218058	31218058	G	A	FAN1	c.2404G>A	NM_014967.5	NP_055782.3:p.(Gly802Arg)	NC_000015.9:g.31218058G>A	VUS	1 lab	3bcea6c668
2:179599686 TTN G>T	2	179599686	179599686	G	T	TTN	c.14965C>A	NM_001267550.2	NP_001254479.2:p.(Pro4989Thr)	NC_000002.11:g.179599686G>T	VUS	1 lab	3bcf5c0227
X:2876426 ARSL A>T	X	2876426	2876426	A	T	ARSL	c.74T>A	NM_000047.2	NP_000038.2:p.(Leu25Ter)	NC_000023.10:g.2876426A>T	(Likely) pathogenic	1 lab	1e652aed6f
19:7172418 INSR T>C	19	7172418	7172418	T	C	INSR	c.1151A>G	NM_000208.4	NP_000199.2:p.(Asn384Ser)	NC_000019.9:g.7172418T>C	VUS	1 lab	3bd0db0963
6:36930957 PI16 C>T	6	36930957	36930957	C	T	PI16	c.839C>T	NM_153370.3	NP_699201.2:p.(Ala280Val)	NC_000006.11:g.36930957C>T	VUS	1 lab	3bd28633c0
10:127677225 FANK1 C>A	10	127677225	127677225	C	A	FANK1	c.297C>A	NM_145235.5	NP_660278.3:p.(Leu99=)	NC_000010.10:g.127677225C>A	(Likely) benign	1 lab	3bd397c897
7:50611777 DDC C>T	7	50611777	50611777	C	T	DDC	c.7G>A	NM_001082971.2	NP_001076440.2:p.(Ala3Thr)	NC_000007.13:g.50611777C>T	(Likely) benign	1 lab	3bd3b94e9d
8:33369527 TTI2 C>T	8	33369527	33369527	C	T	TTI2	c.605G>A	NM_001102401.4	NP_001095871.1:p.(Arg202Lys)	NC_000008.10:g.33369527C>T	(Likely) benign	1 lab	3bd3e3a043
2:54786033 SPTBN1 C>A	2	54786033	54786033	C	A	SPTBN1	c.148+32330C>A	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54786033C>A	(Likely) benign	1 lab	3bd40867ae
14:78745004 NRXN3 A>G	14	78745004	78745004	A	G	NRXN3	c.726A>G	NM_001330195.2	NP_001317124.1:p.(Pro242=)	NC_000014.8:g.78745004A>G	VUS	1 lab	3bd4ef34cf
14:75515191 MLH3 A>T	14	75515191	75515191	A	T	MLH3	c.1168T>A	NM_001040108.2	NP_001035197.1:p.(Phe390Ile)	NC_000014.8:g.75515191A>T	VUS	1 lab	3bd685892a
11:687958 DEAF1 C>T	11	687958	687958	C	T	DEAF1	c.617G>A	NM_021008.4	NP_066288.2:p.(Arg206Gln)	NC_000011.9:g.687958C>T	VUS	1 lab	3bd821eda7
14:68234427 ZFYVE26 A>G	14	68234427	68234427	A	G	ZFYVE26	c.5784T>C	NM_015346.4	NP_056161.2:p.(Tyr1928=)	NC_000014.8:g.68234427A>G	(Likely) benign	1 lab	3bd837474d
11:62458862 BSCL2 C>T	11	62458862	62458862	C	T	BSCL2	c.895G>A	NM_001122955.4	NP_001116427.1:p.(Ala299Thr)	NC_000011.9:g.62458862C>T	VUS	1 lab	1df5f80ede
19:50412490 NUP62 G>A	19	50412490	50412490	G	A	NUP62	c.575C>T	NM_016553.5	NP_057637.2:p.(Pro192Leu)	NC_000019.9:g.50412490G>A	(Likely) benign	1 lab	3bd8fe0120
16:31142303 KAT8 C>T	16	31142303	31142303	C	T	KAT8	c.1312+82C>T	NM_032188.3	NP_115564.2:p.?	NC_000016.9:g.31142303C>T	(Likely) benign	1 lab	3bdab70912
10:97916272 ZNF518A C>T	10	97916272	97916272	C	T	ZNF518A	c.193C>T	NM_001330736.2	NP_001317665.1:p.(His65Tyr)	NC_000010.10:g.97916272C>T	VUS	1 lab	3bdad7684f
15:89400821 ACAN G>A	15	89400821	89400821	G	A	ACAN	c.5005G>A	NM_001369268.1	NP_001356197.1:p.(Val1669Met)	NC_000015.9:g.89400821G>A	VUS	1 lab	3bdc2f0bd7
X:123554431 TENM1 T>C	X	123554431	123554431	T	C	TENM1	c.4712A>G	NM_001163278.2	NP_001156750.1:p.(Tyr1571Cys)	NC_000023.10:g.123554431T>C	(Likely) benign	1 lab	3bdd9cde1d
20:61444600 OGFR C>A	20	61444600	61444600	C	A	OGFR	c.1633C>A	NM_007346.4	NP_031372.2:p.(Arg545Ser)	NC_000020.10:g.61444600C>A	(Likely) benign	1 lab	3bdedee5df
11:3877608 STIM1 G>A	11	3877608	3877608	G	A	STIM1	c.108G>A	NM_001382567.1	NP_001369496.1:p.(Ser36=)	NC_000011.9:g.3877608G>A	(Likely) benign	1 lab	3bdf752fa7
16:3794886 CREBBP G>A	16	3794886	3794886	G	A	CREBBP	c.3982+9C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3794886G>A	(Likely) benign	1 lab	3be1594614
3:119133187 ARHGAP31 C>T	3	119133187	119133187	C	T	ARHGAP31	c.2411C>T	NM_020754.4	NP_065805.2:p.(Pro804Leu)	NC_000003.11:g.119133187C>T	(Likely) benign	1 lab	3be1bced0c
2:112604731 ANAPC1 A>T	2	112604731	112604731	A	T	ANAPC1	c.1836T>A	NM_022662.4	NP_073153.1:p.(Ile612=)	NC_000002.11:g.112604731A>T	(Likely) benign	1 lab	3be253a457
2:74273706 TET3 A>G	2	74273706	74273706	A	G	TET3	c.662A>G	NM_001287491.2	NP_001274420.1:p.(Tyr221Cys)	NC_000002.11:g.74273706A>G	VUS	1 lab	3be4e5307e
1:155308125 ASH1L T>C	1	155308125	155308125	T	C	ASH1L	c.8558A>G	NM_018489.3	NP_060959.2:p.(Asp2853Gly)	NC_000001.10:g.155308125T>C	VUS	1 lab	3be539c493
X:49961647 AKAP4 T>C	X	49961647	49961647	T	C	AKAP4	c.175-4A>G	NM_003886.3	NP_003877.2:p.?	NC_000023.10:g.49961647T>C	VUS	1 lab	3be5cf1c6e
6:131904279 ARG1 G>A	6	131904279	131904279	G	A	ARG1	c.640G>A	NM_000045.4	NP_000036.2:p.(Glu214Lys)	NC_000006.11:g.131904279G>A	VUS	1 lab	3be6385adf
5:42719073 GHR C>T	5	42719073	42719073	C	T	GHR	c.1464C>T	NM_000163.5	NP_000154.1:p.(Ala488=)	NC_000005.9:g.42719073C>T	(Likely) pathogenic	1 lab	3be648d7fa
21:47532198 COL6A2 A>G	21	47532198	47532198	A	G	COL6A2	c.421A>G	NM_001849.4	NP_001840.3:p.(Met141Val)	NC_000021.8:g.47532198A>G	VUS	1 lab	3be7498bae
7:123101627 IQUB C>T	7	123101627	123101627	C	T	IQUB	c.1791G>A	NM_178827.5	NP_849149.3:p.(Lys597=)	NC_000007.13:g.123101627C>T	(Likely) benign	1 lab	3be74eabf9
1:186113668 HMCN1 A>T	1	186113668	186113668	A	T	HMCN1	c.14099A>T	NM_031935.3	NP_114141.2:p.(His4700Leu)	NC_000001.10:g.186113668A>T	(Likely) benign	1 lab	3be758134a
19:18899005 COMP C>T	19	18899005	18899005	C	T	COMP	c.975+16G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899005C>T	(Likely) benign	1 lab	3be81a94c3
11:17485012 ABCC8 G>A	11	17485012	17485012	G	A	ABCC8	c.552C>T	NM_000352.6	NP_000343.2:p.(Leu184=)	NC_000011.9:g.17485012G>A	(Likely) benign	1 lab	3be9224d16
11:118343010 KMT2A C>G	11	118343010	118343010	C	G	KMT2A	c.1136C>G	NM_001197104.2	NP_001184033.1:p.(Ala379Gly)	NC_000011.9:g.118343010C>G	VUS	1 lab	3be93f9282
8:104337368 FZD6 TG>T	8	104337368	104337369	TG	T	FZD6	c.1035del	NM_003506.4	NP_003497.2:p.(Met345IlefsTer43)	NC_000008.10:g.104337369del	VUS	1 lab	3bead40a80
6:170591969 DLL1 TG>T	6	170591969	170591975	TG	T	DLL1	c.2167-3del	NM_005618.4	NP_005609.3:p.?	NC_000006.11:g.170591975del	(Likely) benign	1 lab	1df675ce76
1:11897178 CLCN6 G>GAAGGAGGACCTCCTGCAGCAGATGCTGGA	1	11897178	11897214	G	GAAGGAGGACCTCCTGCAGCAGATGCTGGA	CLCN6	c.2111_2138+1dup	NM_001286.5	NP_001277.2:p.?	NC_000001.10:g.11897186_11897214dup	VUS	1 lab	3bebb4a746
1:178269223 RASAL2 G>A	1	178269223	178269223	G	A	RASAL2	c.427G>A	NM_170692.4	NP_733793.2:p.(Glu143Lys)	NC_000001.10:g.178269223G>A	(Likely) benign	1 lab	3bebebd7cb
17:7797485 CHD3 T>C	17	7797485	7797485	T	C	CHD3	c.977T>C	NM_001005273.3	NP_001005273.1:p.(Leu326Pro)	NC_000017.10:g.7797485T>C	VUS	1 lab	3bec551ed8
13:21401197 XPO4 A>G	13	21401197	21401197	A	G	XPO4	c.840+9T>C	NM_022459.5	NP_071904.4:p.?	NC_000013.10:g.21401197A>G	(Likely) benign	1 lab	3bec7aa5e3
6:31753423 VARS1 T>C	6	31753423	31753423	T	C	VARS1	c.1188A>G	NM_006295.3	NP_006286.1:p.(Leu396=)	NC_000006.11:g.31753423T>C	(Likely) benign	1 lab	3bf030cfdb
9:139440213 NOTCH1 AG>A	9	139440213	139440214	AG	A	NOTCH1	c.25del	NM_017617.5	NP_060087.3:p.(Leu9SerfsTer24)	NC_000009.11:g.139440214del	VUS	1 lab	3bf2442b33
17:33491156 UNC45B C>G	17	33491156	33491156	C	G	UNC45B	c.1122C>G	NM_001267052.2	NP_001253981.1:p.(His374Gln)	NC_000017.10:g.33491156C>G	VUS	1 lab	3bf3416f88
2:80136843 CTNNA2 G>C	2	80136843	80136843	G	C	CTNNA2	c.976G>C	NM_001282597.3	NP_001269526.1:p.(Asp326His)	NC_000002.11:g.80136843G>C	VUS	1 lab	3bf6dac9c8
16:1840994 IGFALS C>T	16	1840994	1840994	C	T	IGFALS	c.1425G>A	NM_004970.3	NP_004961.1:p.(Ala475=)	NC_000016.9:g.1840994C>T	(Likely) benign	1 lab	3bf7a5dcfc
X:6452139 VCX3A C>T	X	6452139	6452139	C	T	VCX3A	c.208G>A	NM_016379.4	NP_057463.2:p.(Gly70Arg)	NC_000023.10:g.6452139C>T	VUS	1 lab	3bf83be707
7:128449515 CCDC136 G>C	7	128449515	128449515	G	C	CCDC136	c.1617G>C	NM_022742.5	NP_073579.5:p.(Leu539=)	NC_000007.13:g.128449515G>C	(Likely) benign	1 lab	3bf9590870
2:47641385 MSH2 G>A	2	47641385	47641385	G	A	MSH2	c.793-23G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641385G>A	(Likely) benign	1 lab	3bfa2430a9
11:17498271 ABCC8 T>G	11	17498271	17498271	T	G	ABCC8	c.53A>C	NM_000352.6	NP_000343.2:p.(Asp18Ala)	NC_000011.9:g.17498271T>G	VUS	1 lab	3bfb5d5b8d
22:51018440 CHKB T>G	22	51018440	51018440	T	G	CHKB	c.890A>C	NM_005198.5	NP_005189.2:p.(Lys297Thr)	NC_000022.10:g.51018440T>G	VUS	1 lab	3bfb7ca29a
14:24568362 NRL T>G	14	24568362	24568362	T	G	NRL	c.-28+15569A>C	NM_001354768.3	NP_001341697.1:p.?	NC_000014.8:g.24568362T>G	VUS	1 lab	3bfb8ea396
12:112674739 HECTD4 C>A	12	112674739	112674739	C	A	HECTD4	c.5444+10G>T	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112674739C>A	(Likely) benign	1 lab	3bfbf1b80c
4:1980608 NSD2 G>A	4	1980608	1980608	G	A	NSD2	c.4070G>A	NM_001042424.3	NP_001035889.1:p.(Gly1357Asp)	NC_000004.11:g.1980608G>A	VUS	1 lab	3bfdf524e7
14:65253234 SPTB C>T	14	65253234	65253234	C	T	SPTB	c.3449G>A	NM_001024858.3	NP_001020029.1:p.(Trp1150Ter)	NC_000014.8:g.65253234C>T	(Likely) pathogenic	1 lab	1e689ea292
3:172166060 GHSR G>A	3	172166060	172166060	G	A	GHSR	c.144C>T	NM_198407.2	NP_940799.1:p.(Ala48=)	NC_000003.11:g.172166060G>A	(Likely) benign	1 lab	3bfe949707
3:31641849 STT3B T>C	3	31641849	31641849	T	C	STT3B	c.778-3T>C	NM_178862.3	NP_849193.1:p.?	NC_000003.11:g.31641849T>C	(Likely) benign	1 lab	3bff7f29c3
12:42499711 GXYLT1 C>A	12	42499711	42499711	C	A	GXYLT1	c.773G>T	NM_173601.2	NP_775872.1:p.(Arg258Leu)	NC_000012.11:g.42499711C>A	(Likely) benign	1 lab	3bff8fe3ea
17:20359944 LGALS9B C>T	17	20359944	20359944	C	T	LGALS9B	c.374G>A	NM_001367292.2	NP_001354221.1:p.(Arg125His)	NC_000017.10:g.20359944C>T	VUS	1 lab	3c00ca87a7
17:79687432 SLC25A10 G>T	17	79687432	79687432	G	T	SLC25A10	c.*325G>T	NM_012140.5	NP_036272.2:p.?	NC_000017.10:g.79687432G>T	VUS	1 lab	3c027155cf
16:70516038 COG4 T>C	16	70516038	70516038	T	C	COG4	c.1961A>G	NM_015386.3	NP_056201.2:p.(Gln654Arg)	NC_000016.9:g.70516038T>C	VUS	1 lab	3c032cc719
4:46060519 GABRG1 A>G	4	46060519	46060519	A	G	GABRG1	c.746T>C	NM_173536.4	NP_775807.2:p.(Ile249Thr)	NC_000004.11:g.46060519A>G	VUS	1 lab	3c0430d995
17:62038546 SCN4A T>A	17	62038546	62038546	T	A	SCN4A	c.1845+7A>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62038546T>A	(Likely) benign	1 lab	3c04461203
4:88986593 PKD2 T>A	4	88986593	88986593	T	A	PKD2	c.2186T>A	NM_000297.4	NP_000288.1:p.(Leu729Gln)	NC_000004.11:g.88986593T>A	VUS	1 lab	3c08693b5e
1:17266533 CROCC G>A	1	17266533	17266533	G	A	CROCC	c.1753G>A	NM_014675.5	NP_055490.4:p.(Glu585Lys)	NC_000001.10:g.17266533G>A	VUS	1 lab	3c08c80c1b
1:115166137 DENND2C C>T	1	115166137	115166137	C	T	DENND2C	c.934G>A	NM_001256404.2	NP_001243333.1:p.(Asp312Asn)	NC_000001.10:g.115166137C>T	VUS	1 lab	3c09270676
5:228307 SDHA G>T	5	228307	228307	G	T	SDHA	c.629G>T	NM_004168.4	NP_004159.2:p.(Arg210Leu)	NC_000005.9:g.228307G>T	VUS	1 lab	3c0a6035f7
15:89398586 ACAN G>A	15	89398586	89398586	G	A	ACAN	c.2770G>A	NM_001369268.1	NP_001356197.1:p.(Glu924Lys)	NC_000015.9:g.89398586G>A	(Likely) benign	1 lab	3c0b65e9f5
15:48744862 FBN1 G>A	15	48744862	48744862	G	A	FBN1	c.5442C>T	NM_000138.4	NP_000129.3:p.(Asn1814=)	NC_000015.9:g.48744862G>A	(Likely) benign	1 lab	1e6a7acebd
X:54781465 ITIH6 C>G	X	54781465	54781465	C	G	ITIH6	c.3187G>C	NM_198510.3	NP_940912.1:p.(Val1063Leu)	NC_000023.10:g.54781465C>G	VUS	1 lab	3c0f431d7f
1:200583514 KIF14 C>T	1	200583514	200583514	C	T	KIF14	c.1387G>A	NM_014875.3	NP_055690.1:p.(Glu463Lys)	NC_000001.10:g.200583514C>T	VUS	1 lab	3c0f6f845b
4:15603037 CC2D2A C>T	4	15603037	15603037	C	T	CC2D2A	c.4852C>T	NM_001378615.1	NP_001365544.1:p.(Arg1618Cys)	NC_000004.11:g.15603037C>T	VUS	1 lab	3c103d9dd6
5:154305604 GEMIN5 A>C	5	154305604	154305604	A	C	GEMIN5	c.1111T>G	NM_015465.5	NP_056280.2:p.(Cys371Gly)	NC_000005.9:g.154305604A>C	VUS	1 lab	3c12a09461
3:64582508 ADAMTS9 C>T	3	64582508	64582508	C	T	ADAMTS9	c.4177G>A	NM_182920.2	NP_891550.1:p.(Glu1393Lys)	NC_000003.11:g.64582508C>T	VUS	1 lab	3c12b73e31
X:123217308 STAG2 C>T	X	123217308	123217308	C	T	STAG2	c.2962C>T	NM_001042750.2	NP_001036215.1:p.(Gln988Ter)	NC_000023.10:g.123217308C>T	(Likely) pathogenic	1 lab	3c149399a9
9:16436952 BNC2 G>C	9	16436952	16436952	G	C	BNC2	c.1240C>G	NM_017637.6	NP_060107.3:p.(Leu414Val)	NC_000009.11:g.16436952G>C	(Likely) benign	1 lab	3c16356f17
4:187524960 FAT1 C>T	4	187524960	187524960	C	T	FAT1	c.10720G>A	NM_005245.4	NP_005236.2:p.(Val3574Met)	NC_000004.11:g.187524960C>T	VUS	1 lab	3c16f92c0c
X:48826534 KCND1 G>A	X	48826534	48826534	G	A	KCND1	c.145C>T	NM_004979.6	NP_004970.3:p.(Arg49Trp)	NC_000023.10:g.48826534G>A	VUS	1 lab	3c1703f6fc
15:41224577 DLL4 A>G	15	41224577	41224577	A	G	DLL4	c.782A>G	NM_019074.4	NP_061947.1:p.(His261Arg)	NC_000015.9:g.41224577A>G	VUS	1 lab	3c170efc08
1:160109765 ATP1A2 T>C	1	160109765	160109765	T	C	ATP1A2	c.3025T>C	NM_000702.4	NP_000693.1:p.(Tyr1009His)	NC_000001.10:g.160109765T>C	(Likely) benign	1 lab	3c1730d4dc
20:19956007 RIN2 G>C	20	19956007	19956007	G	C	RIN2	c.1338G>C	NM_018993.4	NP_061866.1:p.(Arg446=)	NC_000020.10:g.19956007G>C	(Likely) benign	1 lab	3c17536bbc
11:44286460 ALX4 C>T	11	44286460	44286460	C	T	ALX4	c.1180G>A	NM_021926.4	NP_068745.2:p.(Ala394Thr)	NC_000011.9:g.44286460C>T	VUS	1 lab	3c184c76bb
1:110121968 GNAI3 A>G	1	110121968	110121968	A	G	GNAI3	c.446A>G	NM_006496.4	NP_006487.1:p.(Asn149Ser)	NC_000001.10:g.110121968A>G	VUS	1 lab	3c1b0cdad1
Y:5605409 PCDH11Y C>T	Y	5605409	5605409	C	T	PCDH11Y	c.3173C>T	NM_001395587.1	NP_001382516.1:p.(Ser1058Phe)	NC_000024.9:g.5605409C>T	(Likely) benign	1 lab	3c1b1315e8
3:139094335 COPB2 C>T	3	139094335	139094335	C	T	COPB2	c.626G>A	NM_004766.3	NP_004757.1:p.(Arg209His)	NC_000003.11:g.139094335C>T	VUS	1 lab	3c1bbfbc18
20:60892465 LAMA5 G>A	20	60892465	60892465	G	A	LAMA5	c.7447C>T	NM_005560.6	NP_005551.3:p.(Arg2483Cys)	NC_000020.10:g.60892465G>A	(Likely) benign	1 lab	3c1c90371d
15:71839679 THSD4 G>A	15	71839679	71839679	G	A	THSD4	c.1153-113190G>A	NM_024817.3	NP_079093.2:p.?	NC_000015.9:g.71839679G>A	(Likely) benign	1 lab	3c1ee82a48
19:16989007 SIN3B T>A	19	16989007	16989007	T	A	SIN3B	c.2968T>A	NM_001297595.2	NP_001284524.1:p.(Phe990Ile)	NC_000019.9:g.16989007T>A	VUS	1 lab	3c228117d3
3:184049331 EIF4G1 C>G	3	184049331	184049331	C	G	EIF4G1	c.4332C>G	NM_198241.3	NP_937884.2:p.(Asn1444Lys)	NC_000003.11:g.184049331C>G	VUS	1 lab	3c231c44bf
21:45154003 PDXK A>C	21	45154003	45154003	A	C	PDXK	c.141A>C	NM_003681.5	NP_003672.1:p.(Thr47=)	NC_000021.8:g.45154003A>C	(Likely) benign	1 lab	3c23b346f2
7:44120521 POLM G>T	7	44120521	44120521	G	T	POLM	c.189-6C>A	NM_013284.4	NP_037416.1:p.?	NC_000007.13:g.44120521G>T	(Likely) benign	1 lab	3c255a2cc2
9:35689157 TPM2 T>G	9	35689157	35689157	T	G	TPM2	c.226A>C	NM_003289.4	NP_003280.2:p.(Lys76Gln)	NC_000009.11:g.35689157T>G	VUS	1 lab	3c25a8500d
10:75587837 CAMK2G C>T	10	75587837	75587837	C	T	CAMK2G	c.1086+10G>A	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75587837C>T	(Likely) benign	1 lab	3c27fd8e7a
X:109459843 AMMECR1 C>T	X	109459843	109459843	C	T	AMMECR1	c.602G>A	NM_015365.3	NP_056180.1:p.(Arg201His)	NC_000023.10:g.109459843C>T	VUS	1 lab	3c28596a2f
2:60688464 BCL11A C>A	2	60688464	60688464	C	A	BCL11A	c.1583G>T	NM_022893.4	NP_075044.2:p.(Ser528Ile)	NC_000002.11:g.60688464C>A	(Likely) benign	1 lab	3c28eb5e16
11:17430084 ABCC8 C>T	11	17430084	17430084	C	T	ABCC8	c.2695-20G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17430084C>T	(Likely) benign	1 lab	3c2977b7c2
7:2959166 CARD11 T>C	7	2959166	2959166	T	C	CARD11	c.2350A>G	NM_032415.7	NP_115791.3:p.(Ile784Val)	NC_000007.13:g.2959166T>C	VUS	1 lab	3c2a13a877
19:42492731 ATP1A3 C>T	19	42492731	42492731	C	T	ATP1A3	c.7-17G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492731C>T	(Likely) benign	1 lab	3c2a46f6dc
17:74011595 EVPL C>T	17	74011595	74011595	C	T	EVPL	c.1825G>A	NM_001988.4	NP_001979.2:p.(Ala609Thr)	NC_000017.10:g.74011595C>T	(Likely) benign	1 lab	3c2a480d5c
15:77328107 PSTPIP1 A>AG	15	77328107	77328108	A	AG	PSTPIP1	c.986-35dup	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77328108dup	(Likely) benign	1 lab	1e7101fae1
18:12363827 AFG3L2 C>T	18	12363827	12363827	C	T	AFG3L2	c.581G>A	NM_006796.3	NP_006787.2:p.(Arg194His)	NC_000018.9:g.12363827C>T	(Likely) benign	1 lab	3c2bc1f95e
5:814915 ZDHHC11 G>C	5	814915	814915	G	C	ZDHHC11	c.1147-5C>G	NM_024786.3	NP_079062.1:p.?	NC_000005.9:g.814915G>C	(Likely) benign	1 lab	3c2c40d7a1
X:99661873 PCDH19 C>T	X	99661873	99661873	C	T	PCDH19	c.1723G>A	NM_001184880.2	NP_001171809.1:p.(Val575Ile)	NC_000023.10:g.99661873C>T	VUS	1 lab	3c2d74a1af
20:45017675 ELMO2 C>T	20	45017675	45017675	C	T	ELMO2	c.425+3G>A	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45017675C>T	(Likely) benign	1 lab	3c2da41d56
5:112162913 APC CA>C	5	112162913	112162916	CA	C	APC	c.1520del	NM_000038.6	NP_000029.2:p.(Asn507ThrfsTer2)	NC_000005.9:g.112162916del	(Likely) pathogenic	1 lab	3c2daf313e
11:103194693 DYNC2H1 C>T	11	103194693	103194693	C	T	DYNC2H1	c.12014C>T	NM_001377.3	NP_001368.2:p.(Ser4005Leu)	NC_000011.9:g.103194693C>T	VUS	1 lab	3c2dfd16db
7:151891091 KMT2C T>C	7	151891091	151891091	T	C	KMT2C	c.4660+3A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151891091T>C	VUS	1 lab	3c2f52c15e
2:240006169 HDAC4 A>ACC	2	240006169	240006171	A	ACC	HDAC4	c.2445-232_2445-231insGG	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240006170_240006171insCC	(Likely) benign	1 lab	3c2fb6414f
10:71649191 COL13A1 G>A	10	71649191	71649191	G	A	COL13A1	c.598G>A	NM_001368882.1	NP_001355811.1:p.(Asp200Asn)	NC_000010.10:g.71649191G>A	VUS	1 lab	3c31afb688
19:7174615 INSR T>G	19	7174615	7174615	T	G	INSR	c.1102A>C	NM_000208.4	NP_000199.2:p.(Ile368Leu)	NC_000019.9:g.7174615T>G	VUS	1 lab	3c320cc0e3
9:37015028 PAX5 T>C	9	37015028	37015028	T	C	PAX5	c.376A>G	NM_016734.3	NP_057953.1:p.(Asn126Asp)	NC_000009.11:g.37015028T>C	VUS	1 lab	3c3253f121
7:121756762 AASS C>G	7	121756762	121756762	C	G	AASS	c.819G>C	NM_005763.4	NP_005754.2:p.(Arg273Ser)	NC_000007.13:g.121756762C>G	VUS	1 lab	3c33ac0ca6
7:4823401 AP5Z1 GCTT>G	7	4823401	4823409	GCTT	G	AP5Z1	c.599_601del	NM_014855.3	NP_055670.1:p.(Phe200del)	NC_000007.13:g.4823407_4823409del	VUS	1 lab	3c348aac07
18:28934569 DSG1 G>A	18	28934569	28934569	G	A	DSG1	c.2410G>A	NM_001942.4	NP_001933.2:p.(Gly804Ser)	NC_000018.9:g.28934569G>A	VUS	1 lab	3c40fc5e6e
9:140330593 ENTPD8 C>CCCG	9	140330593	140330594	C	CCCG	ENTPD8	c.921_922insCGG	NM_001033113.2	NP_001028285.1:p.(Val307_Glu308insArg)	NC_000009.11:g.140330593_140330594insCCG	VUS	1 lab	3c34b512e7
11:6638948 TPP1 G>T	11	6638948	6638948	G	T	TPP1	c.289C>A	NM_000391.4	NP_000382.3:p.(His97Asn)	NC_000011.9:g.6638948G>T	VUS	1 lab	3c34e75b76
2:219206750 PNKD C>T	2	219206750	219206750	C	T	PNKD	c.664C>T	NM_015488.5	NP_056303.3:p.(Arg222Trp)	NC_000002.11:g.219206750C>T	(Likely) benign	1 lab	3c42c5feaa
22:40075791 CACNA1I T>A	22	40075791	40075791	T	A	CACNA1I	c.5459T>A	NM_021096.4	NP_066919.2:p.(Ile1820Asn)	NC_000022.10:g.40075791T>A	VUS	1 lab	3c35ccc3d0
2:220342138 SPEG C>T	2	220342138	220342138	C	T	SPEG	c.4700C>T	NM_005876.5	NP_005867.3:p.(Ser1567Phe)	NC_000002.11:g.220342138C>T	VUS	1 lab	3c37fc8ace
15:55526964 RAB27A A>C	15	55526964	55526964	A	C	RAB27A	c.153+16T>G	NM_004580.5	NP_004571.2:p.?	NC_000015.9:g.55526964A>C	(Likely) benign	1 lab	1e7118da46
7:124491986 POT1 A>C	7	124491986	124491986	A	C	POT1	c.889T>G	NM_015450.3	NP_056265.2:p.(Leu297Val)	NC_000007.13:g.124491986A>C	(Likely) benign	1 lab	3c3b179aa4
20:40043982 CHD6 T>C	20	40043982	40043982	T	C	CHD6	c.6783A>G	NM_032221.5	NP_115597.3:p.(Gln2261=)	NC_000020.10:g.40043982T>C	VUS	1 lab	3c3b1e8292
6:30126225 TRIM10 A>G	6	30126225	30126225	A	G	TRIM10	c.707T>C	NM_006778.4	NP_006769.2:p.(Ile236Thr)	NC_000006.11:g.30126225A>G	(Likely) benign	1 lab	3c3be4e373
7:99506244 TRIM4 C>T	7	99506244	99506244	C	T	TRIM4	c.681G>A	NM_033091.3	NP_149082.1:p.(Val227=)	NC_000007.13:g.99506244C>T	VUS	1 lab	3c3c48a5d7
16:89349904 ANKRD11 C>T	16	89349904	89349904	C	T	ANKRD11	c.3046G>A	NM_013275.6	NP_037407.4:p.(Asp1016Asn)	NC_000016.9:g.89349904C>T	(Likely) benign	1 lab	3c3c812286
X:38147269 RPGR G>A	X	38147269	38147269	G	A	RPGR	c.1598C>T	NM_001034853.2	NP_001030025.1:p.(Thr533Met)	NC_000023.10:g.38147269G>A	(Likely) benign	1 lab	3c3cfdf841
11:67406390 TBX10 TG>T	11	67406390	67406397	TG	T	TBX10	c.7+546del	NM_005995.5	NP_005986.2:p.?	NC_000011.9:g.67406397del	VUS	1 lab	3c40215b1a
8:144993351 PLEC C>T	8	144993351	144993351	C	T	PLEC	c.10638G>A	NM_201384.3	NP_958786.1:p.(Ala3546=)	NC_000008.10:g.144993351C>T	(Likely) benign	1 lab	3c40e6dcce
2:241631445 AQP12A C>T	2	241631445	241631445	C	T	AQP12A	c.115C>T	NM_198998.3	NP_945349.1:p.(Arg39Trp)	NC_000002.11:g.241631445C>T	(Likely) benign	1 lab	3c41e5c914
14:75052819 LTBP2 C>T	14	75052819	75052819	C	T	LTBP2	c.568G>A	NM_000428.3	NP_000419.1:p.(Val190Ile)	NC_000014.8:g.75052819C>T	VUS	1 lab	3c41f75ac5
1:17266383 CROCC C>A	1	17266383	17266383	C	A	CROCC	c.1609-6C>A	NM_014675.5	NP_055490.4:p.?	NC_000001.10:g.17266383C>A	(Likely) benign	1 lab	3c424fee0a
17:7578262 TP53 C>T	17	7578262	7578262	C	T	TP53	c.587G>A	NM_000546.6	NP_000537.3:p.(Arg196Gln)	NC_000017.10:g.7578262C>T	VUS	1 lab	3c433391be
2:99651798 TSGA10 G>A	2	99651798	99651798	G	A	TSGA10	c.1509C>T	NM_025244.4	NP_079520.1:p.(Ser503=)	NC_000002.11:g.99651798G>A	(Likely) benign	1 lab	3c434e94fc
19:52543785 ZNF432 T>G	19	52543785	52543785	T	G	ZNF432	c.194A>C	NM_014650.4	NP_055465.1:p.(Glu65Ala)	NC_000019.9:g.52543785T>G	(Likely) benign	1 lab	3c4563eb3f
19:40411889 FCGBP C>T	19	40411889	40411889	C	T	FCGBP	c.3739G>A	NM_003890.3	NP_003881.2:p.(Val1247Met)	NC_000019.9:g.40411889C>T	VUS	1 lab	3c46ca76b4
1:156883656 PEAR1 A>G	1	156883656	156883656	A	G	PEAR1	c.2726A>G	NM_001080471.3	NP_001073940.1:p.(Glu909Gly)	NC_000001.10:g.156883656A>G	(Likely) benign	1 lab	3c4c0ca49d
13:103520574 ERCC5 C>T	13	103520574	103520574	C	T	ERCC5	c.2645C>T	NM_000123.4	NP_000114.3:p.(Pro882Leu)	NC_000013.10:g.103520574C>T	VUS	1 lab	3c4c41eb89
2:152547287 NEB G>A	2	152547287	152547287	G	A	NEB	c.2264C>T	NM_001164508.2	NP_001157980.2:p.(Ser755Phe)	NC_000002.11:g.152547287G>A	VUS	1 lab	3c4c8b04cb
9:140695429 EHMT1 G>A	9	140695429	140695429	G	A	EHMT1	c.2705G>A	NM_024757.5	NP_079033.4:p.(Arg902Gln)	NC_000009.11:g.140695429G>A	(Likely) benign	1 lab	3c4ff480c9
15:81592758 IL16 G>C	15	81592758	81592758	G	C	IL16	c.3091G>C	NM_172217.5	NP_757366.2:p.(Asp1031His)	NC_000015.9:g.81592758G>C	VUS	1 lab	3c51ad75c7
1:985829 AGRN G>A	1	985829	985829	G	A	AGRN	c.4999G>A	NM_198576.4	NP_940978.2:p.(Val1667Met)	NC_000001.10:g.985829G>A	VUS	1 lab	3c51eb5783
12:125603275 AACS C>T	12	125603275	125603275	C	T	AACS	c.1085C>T	NM_023928.5	NP_076417.2:p.(Thr362Met)	NC_000012.11:g.125603275C>T	VUS	1 lab	3c5335c9d0
19:50119266 PRR12 C>T	19	50119266	50119266	C	T	PRR12	c.5287C>T	NM_020719.3	NP_065770.1:p.(Arg1763Trp)	NC_000019.9:g.50119266C>T	(Likely) benign	1 lab	3c547d6943
17:29559872 NF1 G>A	17	29559872	29559872	G	A	NF1	c.3469G>A	NM_001042492.3	NP_001035957.1:p.(Val1157Ile)	NC_000017.10:g.29559872G>A	VUS	1 lab	3c5500fbb2
1:32050601 TINAGL1 G>A	1	32050601	32050601	G	A	TINAGL1	c.821G>A	NM_022164.3	NP_071447.1:p.(Arg274His)	NC_000001.10:g.32050601G>A	(Likely) benign	1 lab	3c579e6605
15:75653668 MAN2C1 G>C	15	75653668	75653668	G	C	MAN2C1	c.1273C>G	NM_006715.4	NP_006706.2:p.(Pro425Ala)	NC_000015.9:g.75653668G>C	VUS	1 lab	3c59cdb70a
17:25970629 LGALS9 AG>A	17	25970629	25970634	AG	A	LGALS9	c.528del	NM_009587.3	NP_033665.1:p.(Arg177AlafsTer40)	NC_000017.10:g.25970634del	VUS	1 lab	3c5adf1f8a
21:35127721 ITSN1 T>G	21	35127721	35127721	T	G	ITSN1	c.724+19T>G	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35127721T>G	(Likely) benign	1 lab	1e7c892fcb
16:23421684 COG7 A>T	16	23421684	23421684	A	T	COG7	c.1410-3T>A	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23421684A>T	VUS	1 lab	3c5cecd2fa
X:152106638 ZNF185 C>T	X	152106638	152106638	C	T	ZNF185	c.1238C>T	NM_001395254.1	NP_001382183.1:p.(Ser413Phe)	NC_000023.10:g.152106638C>T	(Likely) benign	1 lab	3c5f41194c
11:89073221 NOX4 C>G	11	89073221	89073221	C	G	NOX4	c.1446+10G>C	NM_016931.5	NP_058627.2:p.?	NC_000011.9:g.89073221C>G	VUS	1 lab	3c5fb26d22
12:46601398 SLC38A1 A>G	12	46601398	46601398	A	G	SLC38A1	c.395T>C	NM_030674.4	NP_109599.3:p.(Met132Thr)	NC_000012.11:g.46601398A>G	(Likely) benign	1 lab	3c5fb77cfa
2:145154042 ZEB2 CACATGCAT>C	2	145154042	145154056	CACATGCAT	C	ZEB2	c.2996_3003del	NM_014795.4	NP_055610.1:p.(Tyr999Ter)	NC_000002.11:g.145154049_145154056del	VUS	1 lab	3c607330cb
10:1130406 WDR37 G>A	10	1130406	1130406	G	A	WDR37	c.460G>A	NM_014023.4	NP_054742.2:p.(Gly154Ser)	NC_000010.10:g.1130406G>A	VUS	1 lab	3c61f0c46a
19:51857502 ETFB G>T	19	51857502	51857502	G	T	ETFB	c.118C>A	NM_001985.3	NP_001976.1:p.(Pro40Thr)	NC_000019.9:g.51857502G>T	VUS	1 lab	3c621fb71a
1:22161219 HSPG2 G>C	1	22161219	22161219	G	C	HSPG2	c.10673C>G	NM_005529.7	NP_005520.4:p.(Thr3558Ser)	NC_000001.10:g.22161219G>C	VUS	1 lab	3c62f29b3a
12:65633919 LEMD3 T>C	12	65633919	65633919	T	C	LEMD3	c.2027T>C	NM_014319.5	NP_055134.2:p.(Val676Ala)	NC_000012.11:g.65633919T>C	VUS	1 lab	3c631bf31a
5:36114530 LMBRD2 A>G	5	36114530	36114530	A	G	LMBRD2	c.1636T>C	NM_001007527.2	NP_001007528.1:p.(Phe546Leu)	NC_000005.9:g.36114530A>G	VUS	1 lab	3c636be594
19:54653302 CNOT3 C>T	19	54653302	54653302	C	T	CNOT3	c.1414C>T	NM_014516.4	NP_055331.1:p.(Pro472Ser)	NC_000019.9:g.54653302C>T	(Likely) benign	1 lab	3c64e82234
7:100683990 MUC17 CAACTT>C	7	100683990	100683996	CAACTT	C	MUC17	c.9295_9299del	NM_001040105.2	NP_001035194.1:p.(Thr3099Ter)	NC_000007.13:g.100683992_100683996del	VUS	1 lab	3c65e8bdf5
16:772797 CCDC78 G>T	16	772797	772797	G	T	CCDC78	c.1302-8C>A	NM_001378030.1	NP_001364959.1:p.?	NC_000016.9:g.772797G>T	(Likely) benign	1 lab	3d018a9c56
1:11888627 CLCN6 A>G	1	11888627	11888627	A	G	CLCN6	c.1067A>G	NM_001286.5	NP_001277.2:p.(Lys356Arg)	NC_000001.10:g.11888627A>G	(Likely) benign	1 lab	3c66433415
11:118926195 HYOU1 G>C	11	118926195	118926195	G	C	HYOU1	c.264+10C>G	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118926195G>C	(Likely) benign	1 lab	1e8227ad13
14:57046780 TMEM260 G>A	14	57046780	57046780	G	A	TMEM260	c.148G>A	NM_017799.4	NP_060269.3:p.(Gly50Arg)	NC_000014.8:g.57046780G>A	VUS	1 lab	3cbfda07e6
4:94690489 GRID2 G>C	4	94690489	94690489	G	C	GRID2	c.2489G>C	NM_001510.4	NP_001501.2:p.(Ser830Thr)	NC_000004.11:g.94690489G>C	VUS	1 lab	3c66903be5
20:10653393 JAG1 T>C	20	10653393	10653393	T	C	JAG1	c.343A>G	NM_000214.3	NP_000205.1:p.(Asn115Asp)	NC_000020.10:g.10653393T>C	VUS	1 lab	3c67eb0f91
14:91773387 CCDC88C G>A	14	91773387	91773387	G	A	CCDC88C	c.3190C>T	NM_001080414.4	NP_001073883.2:p.(Arg1064Trp)	NC_000014.8:g.91773387G>A	VUS	1 lab	3c68857dd8
12:111772971 CUX2 G>T	12	111772971	111772971	G	T	CUX2	c.3196+457G>T	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111772971G>T	(Likely) benign	1 lab	3c6b0d8851
2:241660389 KIF1A T>C	2	241660389	241660389	T	C	KIF1A	c.4810A>G	NM_001244008.2	NP_001230937.1:p.(Thr1604Ala)	NC_000002.11:g.241660389T>C	VUS	1 lab	3c6b6e3757
18:76752950 SALL3 C>T	18	76752950	76752950	C	T	SALL3	c.959C>T	NM_171999.4	NP_741996.2:p.(Pro320Leu)	NC_000018.9:g.76752950C>T	(Likely) benign	1 lab	3c6d1b874b
5:42718897 GHR A>G	5	42718897	42718897	A	G	GHR	c.1288A>G	NM_000163.5	NP_000154.1:p.(Asn430Asp)	NC_000005.9:g.42718897A>G	(Likely) benign	1 lab	3c6e9e9d4f
10:75526511 SEC24C T>C	10	75526511	75526511	T	C	SEC24C	c.1800-7T>C	NM_198597.3	NP_940999.1:p.?	NC_000010.10:g.75526511T>C	(Likely) benign	1 lab	3c713c86c2
11:134028216 NCAPD3 C>G	11	134028216	134028216	C	G	NCAPD3	c.4034+8G>C	NM_015261.3	NP_056076.1:p.?	NC_000011.9:g.134028216C>G	(Likely) benign	1 lab	3c75f3454b
20:57036364 APCDD1L C>A	20	57036364	57036364	C	A	APCDD1L	c.988G>T	NM_153360.3	NP_699191.1:p.(Val330Leu)	NC_000020.10:g.57036364C>A	(Likely) benign	1 lab	3c76dfe9fd
8:113697934 CSMD3 G>A	8	113697934	113697934	G	A	CSMD3	c.2183C>T	NM_198123.2	NP_937756.1:p.(Pro728Leu)	NC_000008.10:g.113697934G>A	(Likely) benign	1 lab	3c77147599
17:26862023 FOXN1 C>G	17	26862023	26862023	C	G	FOXN1	c.1434C>G	NM_001369369.1	NP_001356298.1:p.(His478Gln)	NC_000017.10:g.26862023C>G	(Likely) benign	1 lab	3c7797c4bc
12:89866018 POC1B T>C	12	89866018	89866018	T	C	POC1B	c.487A>G	NM_172240.3	NP_758440.1:p.(Ser163Gly)	NC_000012.11:g.89866018T>C	VUS	1 lab	3c77c26752
18:67753928 RTTN T>G	18	67753928	67753928	T	G	RTTN	c.4303-8A>C	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67753928T>G	(Likely) benign	1 lab	3c795a6170
17:73747101 ITGB4 G>A	17	73747101	73747101	G	A	ITGB4	c.3702G>A	NM_000213.5	NP_000204.3:p.(Thr1234=)	NC_000017.10:g.73747101G>A	VUS	1 lab	3c7a4317e4
7:31014648 GHRHR C>T	7	31014648	31014648	C	T	GHRHR	c.875C>T	NM_000823.4	NP_000814.2:p.(Ser292Leu)	NC_000007.13:g.31014648C>T	VUS	1 lab	3c7d99a5a5
2:220422137 OBSL1 G>GT	2	220422137	220422138	G	GT	OBSL1	c.3993dup	NM_015311.3	NP_056126.1:p.(Arg1332ThrfsTer45)	NC_000002.11:g.220422138dup	(Likely) pathogenic	1 lab	3c7d9b69aa
4:151849980 LRBA T>C	4	151849980	151849980	T	C	LRBA	c.448+6A>G	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151849980T>C	(Likely) benign	1 lab	3c7de1502b
17:78064145 CCDC40 A>C	17	78064145	78064145	A	C	CCDC40	c.2832+462A>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064145A>C	(Likely) benign	1 lab	3c80501cb7
1:152084392 TCHH T>C	1	152084392	152084392	T	C	TCHH	c.1301A>G	NM_007113.4	NP_009044.2:p.(His434Arg)	NC_000001.10:g.152084392T>C	(Likely) benign	1 lab	3c80f737a9
15:85341094 ZNF592 G>T	15	85341094	85341094	G	T	ZNF592	c.2400-6G>T	NM_014630.3	NP_055445.2:p.?	NC_000015.9:g.85341094G>T	(Likely) benign	1 lab	3c81b28cb4
10:123256069 FGFR2 T>C	10	123256069	123256069	T	C	FGFR2	c.1840A>G	NM_000141.5	NP_000132.3:p.(Met614Val)	NC_000010.10:g.123256069T>C	VUS	1 lab	3c81c513f2
13:43918836 ENOX1 G>A	13	43918836	43918836	G	A	ENOX1	c.874C>T	NM_001347969.2	NP_001334898.1:p.(Arg292Ter)	NC_000013.10:g.43918836G>A	VUS	1 lab	3c81f50ec5
14:95572379 DICER1 T>C	14	95572379	95572379	T	C	DICER1	c.2986A>G	NM_177438.3	NP_803187.1:p.(Arg996Gly)	NC_000014.8:g.95572379T>C	VUS	1 lab	3c81f73e01
7:72742627 FKBP6 G>A	7	72742627	72742627	G	A	FKBP6	c.107G>A	NM_003602.5	NP_003593.3:p.(Arg36Gln)	NC_000007.13:g.72742627G>A	(Likely) benign	1 lab	3c829848fd
12:133225573 POLE C>T	12	133225573	133225573	C	T	POLE	c.4091G>A	NM_006231.4	NP_006222.2:p.(Arg1364His)	NC_000012.11:g.133225573C>T	VUS	1 lab	3c835b86ae
16:3021644 PAQR4 C>T	16	3021644	3021644	C	T	PAQR4	c.517C>T	NM_152341.5	NP_689554.2:p.(Arg173Trp)	NC_000016.9:g.3021644C>T	VUS	1 lab	3c8458eb9e
12:25378714 KRAS A>C	12	25378714	25378714	A	C	KRAS	c.291-7T>G	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25378714A>C	(Likely) benign	1 lab	3c85657929
1:103573683 COL11A1 T>A	1	103573683	103573683	T	A	COL11A1	c.52A>T	NM_001854.4	NP_001845.3:p.(Thr18Ser)	NC_000001.10:g.103573683T>A	(Likely) benign	1 lab	3c85f87428
1:27693019 MAP3K6 C>G	1	27693019	27693019	C	G	MAP3K6	c.70G>C	NM_004672.5	NP_004663.3:p.(Ala24Pro)	NC_000001.10:g.27693019C>G	(Likely) benign	1 lab	3c862c7d1a
2:97399255 LMAN2L C>T	2	97399255	97399255	C	T	LMAN2L	c.507+1G>A	NM_030805.4	NP_110432.1:p.?	NC_000002.11:g.97399255C>T	VUS	1 lab	3c8a2a8e1c
19:7132275 INSR C>T	19	7132275	7132275	C	T	INSR	c.2736G>A	NM_000208.4	NP_000199.2:p.(Arg912=)	NC_000019.9:g.7132275C>T	(Likely) benign	1 lab	3c8a9a02e3
10:81050860 ZMIZ1 C>T	10	81050860	81050860	C	T	ZMIZ1	c.685C>T	NM_020338.4	NP_065071.1:p.(Pro229Ser)	NC_000010.10:g.81050860C>T	(Likely) benign	1 lab	3c8bef227a
16:23647515 PALB2 T>C	16	23647515	23647515	T	C	PALB2	c.352A>G	NM_024675.4	NP_078951.2:p.(Ile118Val)	NC_000016.9:g.23647515T>C	VUS	1 lab	3c8df93d0f
9:140317997 NOXA1 G>A	9	140317997	140317997	G	A	NOXA1	c.16G>A	NM_001256067.2	NP_001242996.1:p.(Asp6Asn)	NC_000009.11:g.140317997G>A	VUS	1 lab	3c8ecee963
16:75573899 TMEM231 A>C	16	75573899	75573899	A	C	TMEM231	c.944T>G	NM_001077418.3	NP_001070886.1:p.(Leu315Ter)	NC_000016.9:g.75573899A>C	VUS	1 lab	3c9036b65e
12:101731883 UTP20 G>A	12	101731883	101731883	G	A	UTP20	c.3696G>A	NM_014503.3	NP_055318.2:p.(Leu1232=)	NC_000012.11:g.101731883G>A	(Likely) benign	1 lab	3c90c32101
1:38186063 EPHA10 C>T	1	38186063	38186063	C	T	EPHA10	c.2372G>A	NM_001099439.2	NP_001092909.1:p.(Arg791Gln)	NC_000001.10:g.38186063C>T	VUS	1 lab	3c90dd510b
19:1105286 GPX4 G>A	19	1105286	1105286	G	A	GPX4	c.179+7G>A	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1105286G>A	VUS	1 lab	3c92a2e857
2:121712926 GLI2 C>T	2	121712926	121712926	C	T	GLI2	c.563C>T	NM_001374353.1	NP_001361282.1:p.(Ala188Val)	NC_000002.11:g.121712926C>T	(Likely) benign	1 lab	3c9316386c
16:30735513 SRCAP A>G	16	30735513	30735513	A	G	SRCAP	c.4768A>G	NM_006662.3	NP_006653.2:p.(Met1590Val)	NC_000016.9:g.30735513A>G	(Likely) benign	1 lab	3c93624688
19:39018333 RYR1 G>T	19	39018333	39018333	G	T	RYR1	c.10733G>T	NM_000540.3	NP_000531.2:p.(Gly3578Val)	NC_000019.9:g.39018333G>T	VUS	1 lab	3c945bd2e0
6:1612242 FOXC1 C>T	6	1612242	1612242	C	T	FOXC1	c.1562C>T	NM_001453.3	NP_001444.2:p.(Ser521Phe)	NC_000006.11:g.1612242C>T	VUS	1 lab	3c95b8a921
20:25456896 NINL T>A	20	25456896	25456896	T	A	NINL	c.3031A>T	NM_025176.6	NP_079452.3:p.(Lys1011Ter)	NC_000020.10:g.25456896T>A	VUS	1 lab	3c96efc69e
16:2139931 PKD1 A>C	16	2139931	2139931	A	C	PKD1	c.12709T>G	NM_001009944.3	NP_001009944.3:p.(Tyr4237Asp)	NC_000016.9:g.2139931A>C	(Likely) pathogenic	1 lab	3c96f98290
2:213872261 IKZF2 A>C	2	213872261	213872261	A	C	IKZF2	c.1404T>G	NM_001387220.1	NP_001374149.1:p.(Ile468Met)	NC_000002.11:g.213872261A>C	(Likely) benign	1 lab	3c9746b60c
21:34900825 GART T>A	21	34900825	34900825	T	A	GART	c.897A>T	NM_000819.5	NP_000810.1:p.(Gln299His)	NC_000021.8:g.34900825T>A	VUS	1 lab	3c97df83db
X:86919941 KLHL4 C>T	X	86919941	86919941	C	T	KLHL4	c.2097+6C>T	NM_019117.5	NP_061990.2:p.?	NC_000023.10:g.86919941C>T	(Likely) benign	1 lab	3c99b27432
1:22169254 HSPG2 C>A	1	22169254	22169254	C	A	HSPG2	c.8910+9G>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22169254C>A	(Likely) benign	1 lab	3c9b08db89
X:40990560 USP9X A>C	X	40990560	40990560	A	C	USP9X	c.243-150A>C	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.40990560A>C	(Likely) benign	1 lab	3c9ca9bc38
17:59861788 BRIP1 A>G	17	59861788	59861788	A	G	BRIP1	c.1474-3T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59861788A>G	(Likely) benign	1 lab	3c9fb9c878
1:22176934 HSPG2 C>T	1	22176934	22176934	C	T	HSPG2	c.7216G>A	NM_005529.7	NP_005520.4:p.(Val2406Met)	NC_000001.10:g.22176934C>T	VUS	1 lab	3ca04ee18a
3:128205699 GATA2 T>C	3	128205699	128205699	T	C	GATA2	c.176A>G	NM_032638.5	NP_116027.2:p.(Tyr59Cys)	NC_000003.11:g.128205699T>C	VUS	1 lab	3ca054b2e0
2:158177847 ERMN C>A	2	158177847	158177847	C	A	ERMN	c.791G>T	NM_020711.3	NP_065762.1:p.(Arg264Leu)	NC_000002.11:g.158177847C>A	VUS	1 lab	3ca055c790
1:12628376 DHRS3 C>T	1	12628376	12628376	C	T	DHRS3	c.902G>A	NM_004753.7	NP_004744.2:p.(Arg301Gln)	NC_000001.10:g.12628376C>T	VUS	1 lab	3ca1968810
15:99465413 IGF1R C>A	15	99465413	99465413	C	A	IGF1R	c.2238C>A	NM_000875.5	NP_000866.1:p.(Ala746=)	NC_000015.9:g.99465413C>A	(Likely) benign	1 lab	3ca1a71d95
3:172473317 ECT2 T>A	3	172473317	172473317	T	A	ECT2	c.255T>A	NM_001258315.2	NP_001245244.1:p.(Ser85Arg)	NC_000003.11:g.172473317T>A	(Likely) benign	1 lab	3ca2ab8919
15:59063905 MINDY2 G>A	15	59063905	59063905	G	A	MINDY2	c.311G>A	NM_001040450.3	NP_001035540.1:p.(Gly104Glu)	NC_000015.9:g.59063905G>A	(Likely) benign	1 lab	3ca4b334c3
8:70515870 SULF1 A>T	8	70515870	70515870	A	T	SULF1	c.1226A>T	NM_001128205.2	NP_001121677.1:p.(Asp409Val)	NC_000008.10:g.70515870A>T	VUS	1 lab	3ca4e2aa49
15:99482480 IGF1R C>A	15	99482480	99482480	C	A	IGF1R	c.3348C>A	NM_000875.5	NP_000866.1:p.(Ala1116=)	NC_000015.9:g.99482480C>A	(Likely) benign	1 lab	3ca5a8de34
1:220156616 EPRS1 C>T	1	220156616	220156616	C	T	EPRS1	c.3215G>A	NM_004446.3	NP_004437.2:p.(Gly1072Asp)	NC_000001.10:g.220156616C>T	VUS	1 lab	3ca7326f12
2:109357106 RANBP2 T>C	2	109357106	109357106	T	C	RANBP2	c.944T>C	NM_006267.5	NP_006258.3:p.(Leu315Pro)	NC_000002.11:g.109357106T>C	VUS	1 lab	3caa481d9d
17:41245256 BRCA1 TA>T	17	41245256	41245257	TA	T	BRCA1	c.2291del	NM_007294.4	NP_009225.1:p.(Val764GlufsTer28)	NC_000017.10:g.41245257del	(Likely) pathogenic	1 lab	3cab2ea4b5
12:58144997 CDK4 G>A	12	58144997	58144997	G	A	CDK4	c.347C>T	NM_000075.4	NP_000066.1:p.(Thr116Met)	NC_000012.11:g.58144997G>A	VUS	1 lab	3cad0e5eeb
16:2259463 BRICD5 G>T	16	2259463	2259463	G	T	BRICD5	c.593-6C>A	NM_182563.4	NP_872369.2:p.?	NC_000016.9:g.2259463G>T	(Likely) benign	1 lab	3cad162b17
19:42795494 CIC C>G	19	42795494	42795494	C	G	CIC	c.5301C>G	NM_001386298.1	NP_001373227.1:p.(Pro1767=)	NC_000019.9:g.42795494C>G	(Likely) benign	1 lab	3cad4d8a9e
2:241534510 CAPN10 G>A	2	241534510	241534510	G	A	CAPN10	c.1067G>A	NM_023083.4	NP_075571.2:p.(Arg356Gln)	NC_000002.11:g.241534510G>A	VUS	1 lab	3caf0d65b3
10:97387240 ALDH18A1 C>T	10	97387240	97387240	C	T	ALDH18A1	c.1037G>A	NM_002860.4	NP_002851.2:p.(Gly346Glu)	NC_000010.10:g.97387240C>T	VUS	1 lab	3caf953e8e
15:51696500 GLDN A>C	15	51696500	51696500	A	C	GLDN	c.1205A>C	NM_181789.4	NP_861454.2:p.(Gln402Pro)	NC_000015.9:g.51696500A>C	VUS	1 lab	3cb0011539
1:11994823 PLOD1 CCCATACCTCGG>C	1	11994823	11994838	CCCATACCTCGG	C	PLOD1	c.-9_2del	NM_000302.4	NP_000293.2:p.(Met1?)	NC_000001.10:g.11994828_11994838del	VUS	1 lab	3cb04a3f16
1:181760160 CACNA1E G>A	1	181760160	181760160	G	A	CACNA1E	c.5898+468G>A	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181760160G>A	(Likely) benign	1 lab	3cb0fab33b
1:240371026 FMN2 G>A	1	240371026	240371026	G	A	FMN2	c.2914G>A	NM_020066.5	NP_064450.3:p.(Gly972Arg)	NC_000001.10:g.240371026G>A	VUS	1 lab	3cc13d8527
19:13319726 CACNA1A T>TCGATGCTTC	19	13319726	13319739	T	TCGATGCTTC	CACNA1A	c.6615_6623dup	NM_001127222.2	NP_001120694.1:p.(Lys2206_Arg2208dup)	NC_000019.9:g.13319731_13319739dup	(Likely) benign	1 lab	3cb10f66cf
12:52911394 KRT5 C>T	12	52911394	52911394	C	T	KRT5	c.1072G>A	NM_000424.4	NP_000415.2:p.(Glu358Lys)	NC_000012.11:g.52911394C>T	VUS	1 lab	3cb35a1ecd
3:38518844 ACVR2B G>A	3	38518844	38518844	G	A	ACVR2B	c.119G>A	NM_001106.4	NP_001097.2:p.(Arg40His)	NC_000003.11:g.38518844G>A	(Likely) benign	1 lab	3cb3c34710
12:124417899 DNAH10 G>A	12	124417899	124417899	G	A	DNAH10	c.13318G>A	NM_001372106.1	NP_001359035.1:p.(Val4440Met)	NC_000012.11:g.124417899G>A	VUS	1 lab	3cb5d6ae9a
2:163137836 IFIH1 A>C	2	163137836	163137836	A	C	IFIH1	c.1524+2T>G	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163137836A>C	VUS	1 lab	3cb67f8cee
1:8420410 RERE G>A	1	8420410	8420410	G	A	RERE	c.3157C>T	NM_001042681.2	NP_001036146.1:p.(Pro1053Ser)	NC_000001.10:g.8420410G>A	(Likely) benign	1 lab	3cb702bcb7
19:17132960 CPAMD8 G>A	19	17132960	17132960	G	A	CPAMD8	c.124C>T	NM_015692.5	NP_056507.3:p.(Arg42Cys)	NC_000019.9:g.17132960G>A	(Likely) benign	1 lab	3cb9f522b1
1:45295690 PTCH2 C>T	1	45295690	45295690	C	T	PTCH2	c.826G>A	NM_003738.5	NP_003729.3:p.(Ala276Thr)	NC_000001.10:g.45295690C>T	(Likely) benign	1 lab	3cba94e7e2
17:70119824 SOX9 G>T	17	70119824	70119824	G	T	SOX9	c.826G>T	NM_000346.4	NP_000337.1:p.(Gly276Cys)	NC_000017.10:g.70119824G>T	VUS	1 lab	3cbb780c7d
6:79707300 PHIP T>C	6	79707300	79707300	T	C	PHIP	c.2032A>G	NM_017934.7	NP_060404.4:p.(Thr678Ala)	NC_000006.11:g.79707300T>C	(Likely) benign	1 lab	3cbd64eed8
1:19449415 UBR4 A>T	1	19449415	19449415	A	T	UBR4	c.9728T>A	NM_020765.3	NP_065816.2:p.(Leu3243Gln)	NC_000001.10:g.19449415A>T	VUS	1 lab	3cbe921a49
X:99661836 PCDH19 A>G	X	99661836	99661836	A	G	PCDH19	c.1760T>C	NM_001184880.2	NP_001171809.1:p.(Val587Ala)	NC_000023.10:g.99661836A>G	VUS	1 lab	3cbfb25b1f
X:16847765 TXLNG A>G	X	16847765	16847765	A	G	TXLNG	c.736A>G	NM_018360.3	NP_060830.2:p.(Ile246Val)	NC_000023.10:g.16847765A>G	(Likely) benign	1 lab	3cc1be340f
16:2144114 PKD1 C>A	16	2144114	2144114	C	A	PKD1	c.10597G>T	NM_001009944.3	NP_001009944.3:p.(Ala3533Ser)	NC_000016.9:g.2144114C>A	VUS	1 lab	3cc1f2a691
19:56373525 NLRP4 C>T	19	56373525	56373525	C	T	NLRP4	c.2186C>T	NM_134444.5	NP_604393.2:p.(Ala729Val)	NC_000019.9:g.56373525C>T	(Likely) benign	1 lab	3cc275ea00
14:64636964 SYNE2 A>T	14	64636964	64636964	A	T	SYNE2	c.17019A>T	NM_182914.3	NP_878918.2:p.(Glu5673Asp)	NC_000014.8:g.64636964A>T	(Likely) benign	1 lab	3cc2bcd716
X:7171289 STS C>T	X	7171289	7171289	C	T	STS	c.49C>T	NM_001320752.2	NP_001307681.2:p.(His17Tyr)	NC_000023.10:g.7171289C>T	VUS	1 lab	3cc31f16db
11:103024123 DYNC2H1 C>G	11	103024123	103024123	C	G	DYNC2H1	c.3188C>G	NM_001377.3	NP_001368.2:p.(Pro1063Arg)	NC_000011.9:g.103024123C>G	VUS	1 lab	3cc3a5c7e5
6:159197440 EZR A>C	6	159197440	159197440	A	C	EZR	c.795T>G	NM_003379.5	NP_003370.2:p.(Pro265=)	NC_000006.11:g.159197440A>C	(Likely) benign	1 lab	1e83d0c9e4
11:125864927 CDON C>T	11	125864927	125864927	C	T	CDON	c.2383G>A	NM_001378964.1	NP_001365893.1:p.(Val795Ile)	NC_000011.9:g.125864927C>T	(Likely) benign	1 lab	3cc43f8ba3
4:114278937 ANK2 T>C	4	114278937	114278937	T	C	ANK2	c.9163T>C	NM_001148.6	NP_001139.3:p.(Phe3055Leu)	NC_000004.11:g.114278937T>C	VUS	1 lab	3cc4ef86b7
1:240351508 FMN2 A>G	1	240351508	240351508	A	G	FMN2	c.1932A>G	NM_020066.5	NP_064450.3:p.(Glu644=)	NC_000001.10:g.240351508A>G	(Likely) benign	1 lab	3cc5307af7
9:4118319 GLIS3 C>A	9	4118319	4118319	C	A	GLIS3	c.1159G>T	NM_001042413.2	NP_001035878.1:p.(Asp387Tyr)	NC_000009.11:g.4118319C>A	VUS	1 lab	3cc6d26d6d
19:42778072 CIC C>G	19	42778072	42778072	C	G	CIC	c.2137C>G	NM_001386298.1	NP_001373227.1:p.(Arg713Gly)	NC_000019.9:g.42778072C>G	VUS	1 lab	3cc7d479df
12:115112362 TBX3 C>T	12	115112362	115112362	C	T	TBX3	c.1318G>A	NM_005996.4	NP_005987.3:p.(Glu440Lys)	NC_000012.11:g.115112362C>T	(Likely) benign	1 lab	3cc849a9b3
X:153042690 PLXNB3 A>AG	X	153042690	153042698	A	AG	PLXNB3	c.4963dup	NM_005393.3	NP_005384.2:p.(Val1655GlyfsTer76)	NC_000023.10:g.153042698dup	VUS	1 lab	3cc8b1c503
X:125685583 DCAF12L1 C>A	X	125685583	125685583	C	A	DCAF12L1	c.1009G>T	NM_178470.5	NP_848565.2:p.(Asp337Tyr)	NC_000023.10:g.125685583C>A	(Likely) benign	1 lab	3cc97280c6
6:45390508 RUNX2 G>GGCGGCGGCGGCT	6	45390508	45390531	G	GGCGGCGGCGGCT	RUNX2	c.249_260dup	NM_001024630.4	NP_001019801.3:p.(Ala86_Ala89dup)	NC_000006.11:g.45390520_45390531dup	VUS	1 lab	3cc9a089f4
11:117860286 IL10RA C>T	11	117860286	117860286	C	T	IL10RA	c.318C>T	NM_001558.4	NP_001549.2:p.(Ser106=)	NC_000011.9:g.117860286C>T	VUS	1 lab	3ccacd8bd6
15:89862559 POLG C>T	15	89862559	89862559	C	T	POLG	c.3004G>A	NM_002693.3	NP_002684.1:p.(Glu1002Lys)	NC_000015.9:g.89862559C>T	VUS	1 lab	3cccefbae1
12:122254954 SETD1B G>T	12	122254954	122254954	G	T	SETD1B	c.2731G>T	NM_001353345.2	NP_001340274.1:p.(Val911Leu)	NC_000012.11:g.122254954G>T	(Likely) benign	1 lab	3ccdb56206
20:60908302 LAMA5 G>T	20	60908302	60908302	G	T	LAMA5	c.3129-3C>A	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60908302G>T	(Likely) benign	1 lab	3cce13c828
1:153790539 GATAD2B G>A	1	153790539	153790539	G	A	GATAD2B	c.706C>T	NM_020699.4	NP_065750.1:p.(Pro236Ser)	NC_000001.10:g.153790539G>A	(Likely) benign	1 lab	3ccee9bbcc
2:54887096 SPTBN1 T>C	2	54887096	54887096	T	C	SPTBN1	c.6380T>C	NM_003128.3	NP_003119.2:p.(Val2127Ala)	NC_000002.11:g.54887096T>C	VUS	1 lab	3ccf7eca2f
20:35539668 SAMHD1 C>G	20	35539668	35539668	C	G	SAMHD1	c.1223G>C	NM_015474.4	NP_056289.2:p.(Arg408Pro)	NC_000020.10:g.35539668C>G	VUS	1 lab	3cd04b0e34
4:1808551 FGFR3 C>T	4	1808551	1808551	C	T	FGFR3	c.2169-5C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808551C>T	(Likely) benign	1 lab	3cd16cc075
11:32450138 WT1 G>A	11	32450138	32450138	G	A	WT1	c.689C>T	NM_024426.6	NP_077744.4:p.(Thr230Met)	NC_000011.9:g.32450138G>A	VUS	1 lab	3d30806404
6:117250084 RFX6 C>T	6	117250084	117250084	C	T	RFX6	c.2561C>T	NM_173560.4	NP_775831.2:p.(Ser854Leu)	NC_000006.11:g.117250084C>T	(Likely) benign	1 lab	3cd1988864
14:103421021 CDC42BPB C>G	14	103421021	103421021	C	G	CDC42BPB	c.2906G>C	NM_006035.4	NP_006026.3:p.(Ser969Thr)	NC_000014.8:g.103421021C>G	(Likely) benign	1 lab	3cd27c9fc0
10:81065854 ZMIZ1 C>A	10	81065854	81065854	C	A	ZMIZ1	c.2424-3C>A	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.81065854C>A	(Likely) benign	1 lab	3cd48a1554
11:47317135 MADD G>A	11	47317135	47317135	G	A	MADD	c.3600+5G>A	NM_001376571.1	NP_001363500.1:p.?	NC_000011.9:g.47317135G>A	VUS	1 lab	3cd4dc4788
6:70944598 COL9A1 G>A	6	70944598	70944598	G	A	COL9A1	c.2158C>T	NM_001851.6	NP_001842.3:p.(Arg720Trp)	NC_000006.11:g.70944598G>A	VUS	1 lab	3cd50d85c3
6:129371227 LAMA2 C>A	6	129371227	129371227	C	A	LAMA2	c.277C>A	NM_000426.4	NP_000417.3:p.(Pro93Thr)	NC_000006.11:g.129371227C>A	VUS	1 lab	3cd54e8ada
X:131803162 HS6ST2 C>T	X	131803162	131803162	C	T	HS6ST2	c.1046G>A	NM_001394073.1	NP_001381002.1:p.(Arg349Gln)	NC_000023.10:g.131803162C>T	VUS	1 lab	3cd6b0986d
19:47983579 KPTN C>A	19	47983579	47983579	C	A	KPTN	c.685G>T	NM_007059.4	NP_008990.2:p.(Ala229Ser)	NC_000019.9:g.47983579C>A	VUS	1 lab	3cd7d78b57
2:170062941 LRP2 C>G	2	170062941	170062941	C	G	LRP2	c.7289G>C	NM_004525.3	NP_004516.2:p.(Ser2430Thr)	NC_000002.11:g.170062941C>G	(Likely) benign	1 lab	3cd8c8e616
18:76829490 ATP9B G>T	18	76829490	76829490	G	T	ATP9B	c.80G>T	NM_198531.5	NP_940933.3:p.(Ser27Ile)	NC_000018.9:g.76829490G>T	VUS	1 lab	3cd9fdab97
8:381410 FBXO25 A>G	8	381410	381410	A	G	FBXO25	c.204A>G	NM_183420.2	NP_904356.1:p.(Lys68=)	NC_000008.10:g.381410A>G	(Likely) benign	1 lab	3cdb48ee2d
9:80916890 PSAT1 G>A	9	80916890	80916890	G	A	PSAT1	c.142G>A	NM_058179.4	NP_478059.1:p.(Asp48Asn)	NC_000009.11:g.80916890G>A	VUS	1 lab	3cdb5bf68d
16:1506166 CLCN7 G>A	16	1506166	1506166	G	A	CLCN7	c.864C>T	NM_001287.6	NP_001278.1:p.(Phe288=)	NC_000016.9:g.1506166G>A	(Likely) benign	1 lab	3cdc17582b
19:7184656 INSR GA>G	19	7184656	7184657	GA	G	INSR	c.653-9del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184657del	(Likely) benign	1 lab	3cdd302afa
11:34478281 CAT T>TA	11	34478281	34478282	T	TA	CAT	c.974dup	NM_001752.4	NP_001743.1:p.(Tyr325Ter)	NC_000011.9:g.34478282dup	VUS	1 lab	3cdf20e85d
6:31762724 VARS1 G>C	6	31762724	31762724	G	C	VARS1	c.271C>G	NM_006295.3	NP_006286.1:p.(Arg91Gly)	NC_000006.11:g.31762724G>C	(Likely) benign	1 lab	3cdfb7804a
2:179435886 TTN A>G	2	179435886	179435886	A	G	TTN	c.74973T>C	NM_001267550.2	NP_001254479.2:p.(Ile24991=)	NC_000002.11:g.179435886A>G	(Likely) benign	1 lab	3ce2cdcb75
16:2998716 FLYWCH1 C>T	16	2998716	2998716	C	T	FLYWCH1	c.2139C>T	NM_001308068.2	NP_001294997.1:p.(Gly713=)	NC_000016.9:g.2998716C>T	(Likely) benign	1 lab	3ce32acf41
1:225534194 DNAH14 T>C	1	225534194	225534194	T	C	DNAH14	c.11134T>C	NM_001367479.1	NP_001354408.1:p.(Cys3712Arg)	NC_000001.10:g.225534194T>C	VUS	1 lab	3ce37ee0d7
14:50089280 MGAT2 G>C	14	50089280	50089280	G	C	MGAT2	c.1294G>C	NM_002408.4	NP_002399.1:p.(Gly432Arg)	NC_000014.8:g.50089280G>C	VUS	1 lab	3ce431b3b5
17:7752952 KDM6B G>A	17	7752952	7752952	G	A	KDM6B	c.3346G>A	NM_001348716.2	NP_001335645.1:p.(Glu1116Lys)	NC_000017.10:g.7752952G>A	VUS	1 lab	3ce4cc349f
11:47462750 RAPSN A>C	11	47462750	47462750	A	C	RAPSN	c.926T>G	NM_005055.5	NP_005046.2:p.(Ile309Ser)	NC_000011.9:g.47462750A>C	VUS	1 lab	3ce514dc73
2:86075261 ST3GAL5 T>C	2	86075261	86075261	T	C	ST3GAL5	c.385A>G	NM_003896.4	NP_003887.3:p.(Met129Val)	NC_000002.11:g.86075261T>C	VUS	1 lab	3ceb4d2e4e
X:49065113 CACNA1F C>T	X	49065113	49065113	C	T	CACNA1F	c.4985G>A	NM_001256789.3	NP_001243718.1:p.(Arg1662Gln)	NC_000023.10:g.49065113C>T	VUS	1 lab	3ceb652092
17:56284481 MKS1 C>A	17	56284481	56284481	C	A	MKS1	c.1372G>T	NM_017777.4	NP_060247.2:p.(Asp458Tyr)	NC_000017.10:g.56284481C>A	VUS	1 lab	3ceb8a1b1d
11:2181243 INS G>T	11	2181243	2181243	G	T	INS	c.188-16C>A	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2181243G>T	VUS	1 lab	3cecbf3997
2:242681923 D2HGDH G>A	2	242681923	242681923	G	A	D2HGDH	c.424G>A	NM_152783.5	NP_689996.4:p.(Val142Ile)	NC_000002.11:g.242681923G>A	VUS	1 lab	3ceda71082
1:47726004 STIL G>A	1	47726004	47726004	G	A	STIL	c.3037C>T	NM_001048166.1	NP_001041631.1:p.(Pro1013Ser)	NC_000001.10:g.47726004G>A	(Likely) benign	1 lab	3cee19b427
7:151891184 KMT2C A>G	7	151891184	151891184	A	G	KMT2C	c.4570T>C	NM_170606.3	NP_733751.2:p.(Phe1524Leu)	NC_000007.13:g.151891184A>G	(Likely) benign	1 lab	3cee475fcc
1:204518499 MDM4 C>G	1	204518499	204518499	C	G	MDM4	c.1162C>G	NM_002393.5	NP_002384.2:p.(Pro388Ala)	NC_000001.10:g.204518499C>G	VUS	1 lab	3ceea68abb
15:40951551 KNL1 T>C	15	40951551	40951551	T	C	KNL1	c.6728T>C	NM_144508.5	NP_653091.3:p.(Phe2243Ser)	NC_000015.9:g.40951551T>C	VUS	1 lab	3cef067af7
13:32698726 FRY CT>C	13	32698726	32698735	CT	C	FRY	c.556-4del	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32698735del	(Likely) benign	1 lab	3cefe24a9b
20:62192215 HELZ2 C>T	20	62192215	62192215	C	T	HELZ2	c.7214G>A	NM_001037335.2	NP_001032412.2:p.(Gly2405Asp)	NC_000020.10:g.62192215C>T	VUS	1 lab	3cf008b0ea
18:77475445 CTDP1 C>T	18	77475445	77475445	C	T	CTDP1	c.1985C>T	NM_004715.5	NP_004706.3:p.(Ala662Val)	NC_000018.9:g.77475445C>T	VUS	1 lab	3cf250f080
13:20604697 ZMYM2 C>A	13	20604697	20604697	C	A	ZMYM2	c.1852-762C>A	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20604697C>A	(Likely) benign	1 lab	3cf2d65c92
X:38145369 RPGR TTCC>T	X	38145369	38145377	TTCC	T	RPGR	c.2880_2882del	NM_001034853.2	NP_001030025.1:p.(Glu961del)	NC_000023.10:g.38145375_38145377del	VUS	1 lab	3cf2ffd3a5
16:72992819 ZFHX3 G>A	16	72992819	72992819	G	A	ZFHX3	c.1226C>T	NM_006885.4	NP_008816.3:p.(Ser409Leu)	NC_000016.9:g.72992819G>A	(Likely) benign	1 lab	3cf5c4a321
7:44191851 GCK C>T	7	44191851	44191851	C	T	GCK	c.363+19G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44191851C>T	(Likely) benign	1 lab	3cf6f2f348
16:2814362 SRRM2 C>G	16	2814362	2814362	C	G	SRRM2	c.3833C>G	NM_016333.4	NP_057417.3:p.(Pro1278Arg)	NC_000016.9:g.2814362C>G	(Likely) benign	1 lab	3cf7de304f
X:109697321 RTL9 G>A	X	109697321	109697321	G	A	RTL9	c.3476G>A	NM_001385449.1	NP_001372378.1:p.(Arg1159Gln)	NC_000023.10:g.109697321G>A	VUS	1 lab	3cf9a29e3c
8:100831508 VPS13B G>A	8	100831508	100831508	G	A	VPS13B	c.8697-132G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100831508G>A	(Likely) benign	1 lab	1e87b43f90
1:21902305 ALPL C>G	1	21902305	21902305	C	G	ALPL	c.1077C>G	NM_000478.6	NP_000469.3:p.(Ile359Met)	NC_000001.10:g.21902305C>G	VUS	1 lab	3cfd3e60ba
11:34129779 NAT10 C>T	11	34129779	34129779	C	T	NAT10	c.7C>T	NM_024662.3	NP_078938.3:p.(Arg3Trp)	NC_000011.9:g.34129779C>T	VUS	1 lab	3cff09b017
1:1956439 GABRD A>G	1	1956439	1956439	A	G	GABRD	c.127A>G	NM_000815.5	NP_000806.2:p.(Asn43Asp)	NC_000001.10:g.1956439A>G	VUS	1 lab	3cff54992e
2:18113159 KCNS3 T>C	2	18113159	18113159	T	C	KCNS3	c.884T>C	NM_002252.5	NP_002243.3:p.(Met295Thr)	NC_000002.11:g.18113159T>C	VUS	1 lab	3d0178f5a9
3:52436570 BAP1 C>T	3	52436570	52436570	C	T	BAP1	c.2056+48G>A	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52436570C>T	(Likely) benign	1 lab	3d0194369d
22:45996294 FBLN1 G>A	22	45996294	45996294	G	A	FBLN1	c.2080G>A	NM_006486.3	NP_006477.3:p.(Val694Ile)	NC_000022.10:g.45996294G>A	(Likely) benign	1 lab	3d02669dc6
17:56770066 RAD51C C>T	17	56770066	56770066	C	T	RAD51C	c.62C>T	NM_058216.3	NP_478123.1:p.(Pro21Leu)	NC_000017.10:g.56770066C>T	VUS	1 lab	3d03c19d77
18:50985636 DCC G>A	18	50985636	50985636	G	A	DCC	c.3427G>A	NM_005215.4	NP_005206.2:p.(Gly1143Ser)	NC_000018.9:g.50985636G>A	VUS	1 lab	3d0491671c
9:2039818 SMARCA2 A>T	9	2039818	2039818	A	T	SMARCA2	c.708A>T	NM_003070.5	NP_003061.3:p.(Gln236His)	NC_000009.11:g.2039818A>T	VUS	1 lab	3d04b1f6c9
11:19970263 NAV2 A>G	11	19970263	19970263	A	G	NAV2	c.2282A>G	NM_145117.5	NP_660093.2:p.(Asn761Ser)	NC_000011.9:g.19970263A>G	(Likely) benign	1 lab	3d04eaaec3
2:241752380 KIF1A A>G	2	241752380	241752380	A	G	KIF1A	c.-61+7159T>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241752380A>G	(Likely) benign	1 lab	3d051e6490
17:41209094 BRCA1 C>A	17	41209094	41209094	C	A	BRCA1	c.5252G>T	NM_007294.4	NP_009225.1:p.(Arg1751Leu)	NC_000017.10:g.41209094C>A	VUS	1 lab	3d06239154
3:154011573 DHX36 C>T	3	154011573	154011573	C	T	DHX36	c.1634G>A	NM_020865.3	NP_065916.2:p.(Arg545Gln)	NC_000003.11:g.154011573C>T	VUS	1 lab	3d063d251f
17:57775000 PTRH2 G>C	17	57775000	57775000	G	C	PTRH2	c.340C>G	NM_016077.5	NP_057161.1:p.(Pro114Ala)	NC_000017.10:g.57775000G>C	VUS	1 lab	3d070e1329
15:89383310 ACAN C>G	15	89383310	89383310	C	G	ACAN	c.522C>G	NM_001369268.1	NP_001356197.1:p.(Ala174=)	NC_000015.9:g.89383310C>G	(Likely) benign	1 lab	3d07e3889b
8:100883836 VPS13B G>A	8	100883836	100883836	G	A	VPS13B	c.11656G>A	NM_152564.5	NP_689777.3:p.(Val3886Ile)	NC_000008.10:g.100883836G>A	VUS	1 lab	3d082eb31f
X:79277844 TBX22 G>C	X	79277844	79277844	G	C	TBX22	c.76G>C	NM_001109878.2	NP_001103348.1:p.(Asp26His)	NC_000023.10:g.79277844G>C	VUS	1 lab	3d08408bf4
8:30717500 TEX15 T>G	8	30717500	30717500	T	G	TEX15	c.614A>C	NM_001350162.2	NP_001337091.1:p.(Asn205Thr)	NC_000008.10:g.30717500T>G	VUS	1 lab	3d08732ddf
6:31604894 PRRC2A C>T	6	31604894	31604894	C	T	PRRC2A	c.6223C>T	NM_004638.4	NP_004629.3:p.(Arg2075Trp)	NC_000006.11:g.31604894C>T	(Likely) benign	1 lab	3d096657d7
X:44938384 KDM6A C>A	X	44938384	44938384	C	A	KDM6A	c.3095-7C>A	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44938384C>A	VUS	1 lab	3d0b110d20
9:20819871 FOCAD A>G	9	20819871	20819871	A	G	FOCAD	c.1532A>G	NM_001375567.1	NP_001362496.1:p.(Tyr511Cys)	NC_000009.11:g.20819871A>G	(Likely) benign	1 lab	3d0c4412ac
X:153296455 MECP2 A>G	X	153296455	153296455	A	G	MECP2	c.860T>C	NM_001110792.2	NP_001104262.1:p.(Val287Ala)	NC_000023.10:g.153296455A>G	(Likely) benign	1 lab	3d0ed35111
15:28366484 HERC2 T>C	15	28366484	28366484	T	C	HERC2	c.13272+8A>G	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28366484T>C	(Likely) benign	1 lab	3d10c1d2c0
21:15889349 SAMSN1 T>C	21	15889349	15889349	T	C	SAMSN1	c.143A>G	NM_022136.5	NP_071419.3:p.(Asp48Gly)	NC_000021.8:g.15889349T>C	VUS	1 lab	3d11317a06
18:12337530 AFG3L2 A>C	18	12337530	12337530	A	C	AFG3L2	c.1985T>G	NM_006796.3	NP_006787.2:p.(Val662Gly)	NC_000018.9:g.12337530A>C	VUS	1 lab	3d11c6d1a0
5:176638125 NSD1 A>G	5	176638125	176638125	A	G	NSD1	c.2725A>G	NM_022455.5	NP_071900.2:p.(Thr909Ala)	NC_000005.9:g.176638125A>G	(Likely) benign	1 lab	3d11e64b85
1:5940191 NPHP4 G>A	1	5940191	5940191	G	A	NPHP4	c.2594C>T	NM_015102.5	NP_055917.1:p.(Thr865Met)	NC_000001.10:g.5940191G>A	(Likely) benign	1 lab	3d128cbf40
14:60213208 RTN1 C>G	14	60213208	60213208	C	G	RTN1	c.242-9G>C	NM_021136.3	NP_066959.1:p.?	NC_000014.8:g.60213208C>G	(Likely) benign	1 lab	3d523ffb09
10:81921750 ANXA11 GT>G	10	81921750	81921752	GT	G	ANXA11	c.1120del	NM_145868.2	NP_665875.1:p.(Thr374GlnfsTer19)	NC_000010.10:g.81921752del	(Likely) pathogenic	1 lab	3d12f6d133
2:74300275 TET3 G>A	2	74300275	74300275	G	A	TET3	c.2495-401G>A	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74300275G>A	(Likely) benign	1 lab	3d17eb675b
9:87298104 NTRK2 T>C	9	87298104	87298104	T	C	NTRK2	c.212+12229T>C	NM_006180.6	NP_006171.2:p.?	NC_000009.11:g.87298104T>C	(Likely) benign	1 lab	3d1940b720
6:24520623 ALDH5A1 T>C	6	24520623	24520623	T	C	ALDH5A1	c.871-6T>C	NM_001080.3	NP_001071.1:p.?	NC_000006.11:g.24520623T>C	(Likely) benign	1 lab	3d1b2afb32
2:208994241 CRYGC C>T	2	208994241	208994241	C	T	CRYGC	c.176G>A	NM_020989.4	NP_066269.1:p.(Arg59Gln)	NC_000002.11:g.208994241C>T	(Likely) benign	1 lab	3d1cc5cbf8
17:78184875 SGSH G>A	17	78184875	78184875	G	A	SGSH	c.950-65C>T	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78184875G>A	(Likely) benign	1 lab	3d1e35844c
2:113976153 PAX8 G>C	2	113976153	113976153	G	C	PAX8	c.1310C>G	NM_003466.4	NP_003457.1:p.(Pro437Arg)	NC_000002.11:g.113976153G>C	VUS	1 lab	3d1e9b71de
5:127681067 FBN2 C>T	5	127681067	127681067	C	T	FBN2	c.3199G>A	NM_001999.4	NP_001990.2:p.(Gly1067Arg)	NC_000005.9:g.127681067C>T	VUS	1 lab	3d21f0ace8
6:51777229 PKHD1 C>A	6	51777229	51777229	C	A	PKHD1	c.6267G>T	NM_138694.4	NP_619639.3:p.(Pro2089=)	NC_000006.11:g.51777229C>A	(Likely) benign	1 lab	3d22196f13
2:179439925 TTN GCAATGAC>G	2	179439925	179439934	GCAATGAC	G	TTN	c.70927_70933del	NM_001267550.2	NP_001254479.2:p.(Val23643ProfsTer21)	NC_000002.11:g.179439928_179439934del	(Likely) pathogenic	1 lab	1e8828ee2f
22:50964994 TYMP G>GT	22	50964994	50964995	G	GT	TYMP	c.928+10dup	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50964995dup	(Likely) benign	1 lab	3d22fab60d
X:8507784 ANOS1 C>T	X	8507784	8507784	C	T	ANOS1	c.1370G>A	NM_000216.4	NP_000207.2:p.(Arg457Gln)	NC_000023.10:g.8507784C>T	VUS	1 lab	3d23aecf94
20:49509443 ADNP A>G	20	49509443	49509443	A	G	ADNP	c.1808T>C	NM_001282531.3	NP_001269460.1:p.(Ile603Thr)	NC_000020.10:g.49509443A>G	(Likely) benign	1 lab	3d23bb697a
2:216262496 FN1 C>T	2	216262496	216262496	C	T	FN1	c.3424G>A	NM_212482.4	NP_997647.2:p.(Gly1142Ser)	NC_000002.11:g.216262496C>T	VUS	1 lab	3d23d2f3ee
16:30748475 SRCAP T>C	16	30748475	30748475	T	C	SRCAP	c.7114T>C	NM_006662.3	NP_006653.2:p.(Cys2372Arg)	NC_000016.9:g.30748475T>C	VUS	1 lab	3d24d2c273
4:15005749 CPEB2 C>CGGGGGGGGGG	4	15005749	15005752	C	CGGGGGGGGGG	CPEB2	c.1454_1455insGGGGGGGGGG	NM_001177382.2	NP_001170853.1:p.(Phe488GlyfsTer67)	NC_000004.11:g.15005751_15005752insGGGGGGGGGG	(Likely) benign	1 lab	3d2641d5a6
1:202698221 KDM5B C>G	1	202698221	202698221	C	G	KDM5B	c.4578G>C	NM_006618.5	NP_006609.3:p.(Glu1526Asp)	NC_000001.10:g.202698221C>G	VUS	1 lab	3d26ed76e1
4:79418104 FRAS1 A>G	4	79418104	79418104	A	G	FRAS1	c.9104A>G	NM_025074.7	NP_079350.5:p.(Asn3035Ser)	NC_000004.11:g.79418104A>G	VUS	1 lab	3d2800c9ce
2:179410938 TTN C>T	2	179410938	179410938	C	T	TTN	c.95119+1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179410938C>T	(Likely) pathogenic	1 lab	1e8a5800d3
19:13476277 CACNA1A T>A	19	13476277	13476277	T	A	CACNA1A	c.638A>T	NM_001127222.2	NP_001120694.1:p.(Gln213Leu)	NC_000019.9:g.13476277T>A	VUS	1 lab	3d28359c75
19:42753371 ERF CCT>C	19	42753371	42753373	CCT	C	ERF	c.891_892del	NM_006494.4	NP_006485.2:p.(Gly299ArgfsTer9)	NC_000019.9:g.42753372_42753373del	(Likely) pathogenic	1 lab	3d2895a929
19:38993286 RYR1 C>T	19	38993286	38993286	C	T	RYR1	c.7754C>T	NM_000540.3	NP_000531.2:p.(Thr2585Ile)	NC_000019.9:g.38993286C>T	VUS	1 lab	3d28bcb581
X:132826457 GPC3 C>A	X	132826457	132826457	C	A	GPC3	c.1232G>T	NM_004484.4	NP_004475.1:p.(Ser411Ile)	NC_000023.10:g.132826457C>A	(Likely) benign	1 lab	3d292cebe5
12:56490605 ERBB3 G>A	12	56490605	56490605	G	A	ERBB3	c.2249G>A	NM_001982.4	NP_001973.2:p.(Arg750Gln)	NC_000012.11:g.56490605G>A	VUS	1 lab	3d29e2461a
19:7590053 MCOLN1 G>A	19	7590053	7590053	G	A	MCOLN1	c.237+1G>A	NM_020533.3	NP_065394.1:p.?	NC_000019.9:g.7590053G>A	(Likely) pathogenic	1 lab	1e8a7e6650
8:144997721 PLEC G>C	8	144997721	144997721	G	C	PLEC	c.6376C>G	NM_201384.3	NP_958786.1:p.(Gln2126Glu)	NC_000008.10:g.144997721G>C	(Likely) benign	1 lab	3d2c69d7f2
10:104850689 NT5C2 A>C	10	104850689	104850689	A	C	NT5C2	c.1272+4T>G	NM_001351169.2	NP_001338098.1:p.?	NC_000010.10:g.104850689A>C	(Likely) benign	1 lab	3d31d9c88b
4:187630099 FAT1 C>T	4	187630099	187630099	C	T	FAT1	c.883G>A	NM_005245.4	NP_005236.2:p.(Val295Met)	NC_000004.11:g.187630099C>T	(Likely) benign	1 lab	3d334c2b0e
19:52249693 FPR1 G>A	19	52249693	52249693	G	A	FPR1	c.555C>T	NM_002029.3	NP_002020.1:p.(Asn185=)	NC_000019.9:g.52249693G>A	(Likely) benign	1 lab	1e8ad3ce18
14:65041174 PPP1R36 G>A	14	65041174	65041174	G	A	PPP1R36	c.535G>A	NM_172365.3	NP_758953.1:p.(Gly179Ser)	NC_000014.8:g.65041174G>A	VUS	1 lab	3d37081877
16:89985778 MC1R G>A	16	89985778	89985778	G	A	MC1R	c.112G>A	NM_002386.4	NP_002377.4:p.(Val38Met)	NC_000016.9:g.89985778G>A	VUS	1 lab	3d3805a93b
6:42934268 PEX6 G>A	6	42934268	42934268	G	A	PEX6	c.2089C>T	NM_000287.4	NP_000278.3:p.(Pro697Ser)	NC_000006.11:g.42934268G>A	VUS	1 lab	3d38e130b8
10:70775726 KIFBP C>A	10	70775726	70775726	C	A	KIFBP	c.1420C>A	NM_015634.4	NP_056449.1:p.(Gln474Lys)	NC_000010.10:g.70775726C>A	VUS	1 lab	3d39f5880d
X:129149937 BCORL1 C>T	X	129149937	129149937	C	T	BCORL1	c.3189C>T	NM_001379451.1	NP_001366380.1:p.(Ala1063=)	NC_000023.10:g.129149937C>T	(Likely) benign	1 lab	3d3a681145
9:35802611 NPR2 G>A	9	35802611	35802611	G	A	NPR2	c.1815+7G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802611G>A	(Likely) benign	1 lab	3d3abf2f03
11:118963227 HMBS G>C	11	118963227	118963227	G	C	HMBS	c.765G>C	NM_000190.4	NP_000181.2:p.(Arg255Ser)	NC_000011.9:g.118963227G>C	(Likely) benign	1 lab	3d3c2c8773
9:126139148 CRB2 T>C	9	126139148	126139148	T	C	CRB2	c.3665T>C	NM_173689.7	NP_775960.4:p.(Leu1222Pro)	NC_000009.11:g.126139148T>C	VUS	1 lab	3d3d2492bb
1:38274739 C1orf122 GCCCTGACCATCCCCGAGCAGAATA>G	1	38274739	38274770	GCCCTGACCATCCCCGAGCAGAATA	G	C1orf122	c.*2_*25del	NM_198446.3	NP_940848.2:p.?	NC_000001.10:g.38274747_38274770del	VUS	1 lab	3d3d8bf528
10:96043599 PLCE1 G>T	10	96043599	96043599	G	T	PLCE1	c.4848G>T	NM_016341.4	NP_057425.3:p.(Gln1616His)	NC_000010.10:g.96043599G>T	(Likely) benign	1 lab	3d3e737c37
9:69423940 MISSING C>T	9	69423940	69423940	C	T	MISSING				NC_000009.11:g.69423940C>T	VUS	1 lab	3d40a29555
20:44530943 PLTP G>A	20	44530943	44530943	G	A	PLTP	c.1138C>T	NM_006227.4	NP_006218.1:p.(Arg380Trp)	NC_000020.10:g.44530943G>A	(Likely) benign	1 lab	3d41548622
8:38697745 TACC1 A>G	8	38697745	38697745	A	G	TACC1	c.1920A>G	NM_006283.3	NP_006274.2:p.(Lys640=)	NC_000008.10:g.38697745A>G	VUS	1 lab	3d41a62c2f
11:66461240 SPTBN2 C>A	11	66461240	66461240	C	A	SPTBN2	c.4593+3G>T	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66461240C>A	(Likely) benign	1 lab	3d43bc757a
16:2161850 PKD1 C>T	16	2161850	2161850	C	T	PKD1	c.3318G>A	NM_001009944.3	NP_001009944.3:p.(Leu1106=)	NC_000016.9:g.2161850C>T	(Likely) benign	1 lab	3d44eecf74
X:50658871 BMP15 T>C	X	50658871	50658871	T	C	BMP15	c.443T>C	NM_005448.2	NP_005439.2:p.(Leu148Pro)	NC_000023.10:g.50658871T>C	(Likely) benign	1 lab	3d458a51ce
22:26157079 MYO18B T>G	22	26157079	26157079	T	G	MYO18B	c.20T>G	NM_032608.7	NP_115997.5:p.(Leu7Arg)	NC_000022.10:g.26157079T>G	VUS	1 lab	3d45a41c55
1:228476342 OBSCN C>T	1	228476342	228476342	C	T	OBSCN	c.11379C>T	NM_001386125.1	NP_001373054.1:p.(Phe3793=)	NC_000001.10:g.228476342C>T	VUS	1 lab	3d4788f4cb
15:65370408 KBTBD13 G>A	15	65370408	65370408	G	A	KBTBD13	c.1255G>A	NM_001101362.3	NP_001094832.1:p.(Gly419Ser)	NC_000015.9:g.65370408G>A	(Likely) benign	1 lab	3d48d77f1c
12:121947612 KDM2B G>A	12	121947612	121947612	G	A	KDM2B	c.1405C>T	NM_032590.5	NP_115979.3:p.(Leu469Phe)	NC_000012.11:g.121947612G>A	(Likely) benign	1 lab	3d4a87ab58
4:1977005 NSD2 TCTC>T	4	1977005	1977011	TCTC	T	NSD2	c.3515-12_3515-10del	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1977009_1977011del	(Likely) benign	1 lab	3d4c090992
4:96036879 BMPR1B C>G	4	96036879	96036879	C	G	BMPR1B	c.290C>G	NM_001203.3	NP_001194.1:p.(Thr97Arg)	NC_000004.11:g.96036879C>G	VUS	1 lab	3d4d1c50f3
X:53223917 KDM5C C>T	X	53223917	53223917	C	T	KDM5C	c.3442G>A	NM_004187.5	NP_004178.2:p.(Val1148Met)	NC_000023.10:g.53223917C>T	(Likely) benign	1 lab	3d506f394d
11:77825408 ALG8 CAA>C	11	77825408	77825411	CAA	C	ALG8	c.575_576del	NM_024079.5	NP_076984.2:p.(Phe192CysfsTer31)	NC_000011.9:g.77825410_77825411del	(Likely) pathogenic	1 lab	1dfa298c8c
15:75684849 SIN3A G>A	15	75684849	75684849	G	A	SIN3A	c.2585C>T	NM_001145358.2	NP_001138830.1:p.(Pro862Leu)	NC_000015.9:g.75684849G>A	VUS	1 lab	3d53af36b6
19:8650424 ADAMTS10 T>TGCGCTGTCGTCCAGCGCCTTCTCCTCCGCGGCAGAGACG	19	8650424	8650463	T	TGCGCTGTCGTCCAGCGCCTTCTCCTCCGCGGCAGAGACG	ADAMTS10	c.2742_2780dup	NM_030957.4	NP_112219.3:p.(Val915_Ala927dup)	NC_000019.9:g.8650425_8650463dup	VUS	1 lab	3d560ccf1d
15:34130697 RYR3 G>C	15	34130697	34130697	G	C	RYR3	c.12516G>C	NM_001036.6	NP_001027.3:p.(Val4172=)	NC_000015.9:g.34130697G>C	(Likely) benign	1 lab	3d56a11f87
7:154767677 PAXIP1 G>A	7	154767677	154767677	G	A	PAXIP1	c.803C>T	NM_007349.4	NP_031375.3:p.(Pro268Leu)	NC_000007.13:g.154767677G>A	(Likely) benign	1 lab	3d57a18dc5
2:26512783 HADHB C>T	2	26512783	26512783	C	T	HADHB	c.1390-3C>T	NM_000183.3	NP_000174.1:p.?	NC_000002.11:g.26512783C>T	VUS	1 lab	3d587b08ad
2:176857110 LNPK G>T	2	176857110	176857110	G	T	LNPK	c.106C>A	NM_030650.3	NP_085153.1:p.(Gln36Lys)	NC_000002.11:g.176857110G>T	(Likely) benign	1 lab	3d5a63d550
22:38370246 SOX10 AGCAGGTTAGAG>A	22	38370246	38370263	AGCAGGTTAGAG	A	SOX10	c.698-52_698-42del	NM_006941.4	NP_008872.1:p.?	NC_000022.10:g.38370253_38370263del	(Likely) pathogenic	1 lab	3d5ae673c6
3:9785458 BRPF1 ACGTGATGGCCCTGAG>A	3	9785458	9785475	ACGTGATGGCCCTGAG	A	BRPF1	c.2511_2525del	NM_001003694.2	NP_001003694.1:p.(Asp838_Arg842del)	NC_000003.11:g.9785461_9785475del	VUS	1 lab	3d5b294dbf
16:2141143 PKD1 G>A	16	2141143	2141143	G	A	PKD1	c.11745C>T	NM_001009944.3	NP_001009944.3:p.(Ala3915=)	NC_000016.9:g.2141143G>A	(Likely) benign	1 lab	3d5b5addd4
9:109689485 ZNF462 T>TGCC	9	109689485	109689486	T	TGCC	ZNF462	c.3292_3293insGCC	NM_021224.6	NP_067047.4:p.(Ser1098delinsCysPro)	NC_000009.11:g.109689485_109689486insGCC	(Likely) benign	1 lab	3d5c365bd2
X:91132009 PCDH11X G>A	X	91132009	91132009	G	A	PCDH11X	c.770G>A	NM_032968.5	NP_116750.1:p.(Ser257Asn)	NC_000023.10:g.91132009G>A	(Likely) benign	1 lab	3d5dda23c5
17:74017653 EVPL G>C	17	74017653	74017653	G	C	EVPL	c.916-9C>G	NM_001988.4	NP_001979.2:p.?	NC_000017.10:g.74017653G>C	(Likely) benign	1 lab	3d6002a4cc
14:105416669 AHNAK2 T>A	14	105416669	105416669	T	A	AHNAK2	c.5119A>T	NM_138420.4	NP_612429.2:p.(Ser1707Cys)	NC_000014.8:g.105416669T>A	(Likely) benign	1 lab	3d6073ea7a
4:109010339 LEF1 C>A	4	109010339	109010339	C	A	LEF1	c.489G>T	NM_016269.5	NP_057353.1:p.(Glu163Asp)	NC_000004.11:g.109010339C>A	(Likely) benign	1 lab	3d63d8a343
11:17450132 ABCC8 C>T	11	17450132	17450132	C	T	ABCC8	c.1903G>A	NM_000352.6	NP_000343.2:p.(Ala635Thr)	NC_000011.9:g.17450132C>T	(Likely) benign	1 lab	3d646cfccc
22:26164077 MYO18B C>G	22	26164077	26164077	C	G	MYO18B	c.199-5C>G	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26164077C>G	VUS	1 lab	3d663917a5
11:61165269 TMEM216 C>T	11	61165269	61165269	C	T	TMEM216	c.253C>T	NM_001173990.3	NP_001167461.1:p.(Arg85Ter)	NC_000011.9:g.61165269C>T	(Likely) pathogenic	1 lab	3d674cb26a
7:151935172 KMT2C G>C	7	151935172	151935172	G	C	KMT2C	c.2652+620C>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151935172G>C	(Likely) benign	1 lab	3d67dbfd40
11:111724219 ALG9 G>A	11	111724219	111724219	G	A	ALG9	c.790-11C>T	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111724219G>A	(Likely) benign	1 lab	1e8d5c66da
7:143039025 CLCN1 C>T	7	143039025	143039025	C	T	CLCN1	c.1586C>T	NM_000083.3	NP_000074.3:p.(Ala529Val)	NC_000007.13:g.143039025C>T	(Likely) pathogenic	1 lab	3d69818296
17:73738587 ITGB4 G>A	17	73738587	73738587	G	A	ITGB4	c.2782+17G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73738587G>A	(Likely) benign	1 lab	1e8d5e9e7b
7:720308 PRKAR1B T>C	7	720308	720308	T	C	PRKAR1B	c.233A>G	NM_001164760.2	NP_001158232.1:p.(His78Arg)	NC_000007.13:g.720308T>C	(Likely) benign	1 lab	3d6edc9238
8:144996905 PLEC G>A	8	144996905	144996905	G	A	PLEC	c.7192C>T	NM_201384.3	NP_958786.1:p.(Arg2398Cys)	NC_000008.10:g.144996905G>A	VUS	1 lab	3d70fd7160
1:200544716 KIF14 T>C	1	200544716	200544716	T	C	KIF14	c.3566+3A>G	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200544716T>C	(Likely) benign	1 lab	3d7192b650
3:44285446 TOPAZ1 A>G	3	44285446	44285446	A	G	TOPAZ1	c.1448A>G	NM_001145030.2	NP_001138502.1:p.(Gln483Arg)	NC_000003.11:g.44285446A>G	(Likely) benign	1 lab	3d71e6f806
3:48716065 NCKIPSD G>A	3	48716065	48716065	G	A	NCKIPSD	c.1897C>T	NM_016453.4	NP_057537.1:p.(His633Tyr)	NC_000003.11:g.48716065G>A	(Likely) benign	1 lab	3d732ca103
3:113522457 ATP6V1A ACT>A	3	113522457	113522461	ACT	A	ATP6V1A	c.1525_1526del	NM_001690.4	NP_001681.2:p.(Leu509GlyfsTer9)	NC_000003.11:g.113522460_113522461del	VUS	1 lab	3d77d3f5a4
15:75014727 CYP1A1 G>A	15	75014727	75014727	G	A	CYP1A1	c.712C>T	NM_001319217.2	NP_001306146.1:p.(Pro238Ser)	NC_000015.9:g.75014727G>A	VUS	1 lab	3d787c492b
19:7174755 INSR CAGAG>C	19	7174755	7174768	CAGAG	C	INSR	c.975-17_975-14del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7174765_7174768del	(Likely) benign	1 lab	3d79ed64d7
16:89348589 ANKRD11 T>C	16	89348589	89348589	T	C	ANKRD11	c.4361A>G	NM_013275.6	NP_037407.4:p.(Asn1454Ser)	NC_000016.9:g.89348589T>C	(Likely) benign	1 lab	3d7a6a2d92
7:45960695 IGFBP3 C>T	7	45960695	45960695	C	T	IGFBP3	c.45G>A	NM_000598.5	NP_000589.2:p.(Leu15=)	NC_000007.13:g.45960695C>T	(Likely) benign	1 lab	3d7a8ffdd4
X:69502681 RAB41 G>T	X	69502681	69502681	G	T	RAB41	c.213G>T	NM_001363807.1	NP_001350736.1:p.(Lys71Asn)	NC_000023.10:g.69502681G>T	VUS	1 lab	3d7c54ee63
3:126224818 UROC1 G>A	3	126224818	126224818	G	A	UROC1	c.639C>T	NM_144639.3	NP_653240.1:p.(Ile213=)	NC_000003.11:g.126224818G>A	VUS	1 lab	3d7cf162bf
2:27682611 IFT172 C>G	2	27682611	27682611	C	G	IFT172	c.2607G>C	NM_015662.3	NP_056477.1:p.(Gln869His)	NC_000002.11:g.27682611C>G	VUS	1 lab	3d7eeb172f
3:9781224 BRPF1 C>T	3	9781224	9781224	C	T	BRPF1	c.1141C>T	NM_001003694.2	NP_001003694.1:p.(Arg381Cys)	NC_000003.11:g.9781224C>T	(Likely) pathogenic	1 lab	3d7ef46347
12:133249223 POLE C>T	12	133249223	133249223	C	T	POLE	c.1676G>A	NM_006231.4	NP_006222.2:p.(Arg559Gln)	NC_000012.11:g.133249223C>T	VUS	1 lab	3d80c4979f
20:62292756 RTEL1 C>T	20	62292756	62292756	C	T	RTEL1	c.208C>T	NM_001283009.2	NP_001269938.1:p.(Arg70Cys)	NC_000020.10:g.62292756C>T	VUS	1 lab	3d8138ae72
19:56172395 U2AF2 C>T	19	56172395	56172395	C	T	U2AF2	c.335-9C>T	NM_007279.3	NP_009210.1:p.?	NC_000019.9:g.56172395C>T	VUS	1 lab	3d9e35f3d5
3:113522544 ATP6V1A T>G	3	113522544	113522544	T	G	ATP6V1A	c.1589+20T>G	NM_001690.4	NP_001681.2:p.?	NC_000003.11:g.113522544T>G	(Likely) benign	1 lab	1e8f8fb6ae
16:8906843 PMM2 G>A	16	8906843	8906843	G	A	PMM2	c.524-5G>A	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8906843G>A	VUS	1 lab	3e7a9a423d
14:102786257 ZNF839 AGCCGCC>A	14	102786257	102786275	AGCCGCC	A	ZNF839	c.168_173del	NM_018335.6	NP_060805.3:p.(Pro58_Pro59del)	NC_000014.8:g.102786270_102786275del	VUS	1 lab	3d845df006
5:36962236 NIPBL C>T	5	36962236	36962236	C	T	NIPBL	c.470C>T	NM_133433.4	NP_597677.2:p.(Pro157Leu)	NC_000005.9:g.36962236C>T	VUS	1 lab	3d855e8d86
X:70344156 MED12 C>A	X	70344156	70344156	C	A	MED12	c.1892C>A	NM_005120.3	NP_005111.2:p.(Pro631His)	NC_000023.10:g.70344156C>A	VUS	1 lab	3d8589efbd
10:104309824 SUFU G>C	10	104309824	104309824	G	C	SUFU	c.415G>C	NM_016169.4	NP_057253.2:p.(Glu139Gln)	NC_000010.10:g.104309824G>C	VUS	1 lab	3d864fccdd
3:15507925 COLQ C>G	3	15507925	15507925	C	G	COLQ	c.737G>C	NM_005677.4	NP_005668.2:p.(Gly246Ala)	NC_000003.11:g.15507925C>G	VUS	1 lab	3d8698fb49
7:47879084 PKD1L1 C>T	7	47879084	47879084	C	T	PKD1L1	c.5729G>A	NM_138295.5	NP_612152.1:p.(Arg1910Gln)	NC_000007.13:g.47879084C>T	VUS	1 lab	3d86c95fa6
17:74007865 EVPL G>C	17	74007865	74007865	G	C	EVPL	c.2556C>G	NM_001988.4	NP_001979.2:p.(Ser852Arg)	NC_000017.10:g.74007865G>C	VUS	1 lab	3d8a6f61c5
2:131221280 POTEI C>A	2	131221280	131221280	C	A	POTEI	c.2337G>T	NM_001277406.2	NP_001264335.1:p.(Trp779Cys)	NC_000002.11:g.131221280C>A	VUS	1 lab	3d8bcdcb9c
11:17434225 ABCC8 G>A	11	17434225	17434225	G	A	ABCC8	c.2544C>T	NM_000352.6	NP_000343.2:p.(Asn848=)	NC_000011.9:g.17434225G>A	VUS	1 lab	3d8d3191d9
1:236850011 ACTN2 T>A	1	236850011	236850011	T	A	ACTN2	c.38T>A	NM_001103.3	NP_001094.1:p.(Val13Glu)	NC_000001.10:g.236850011T>A	(Likely) benign	1 lab	1e93440ed9
14:21899973 CHD8 C>T	14	21899973	21899973	C	T	CHD8	c.-171G>A	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21899973C>T	VUS	1 lab	3d8dc5ec09
19:57868336 ZNF304 A>G	19	57868336	57868336	A	G	ZNF304	c.1240A>G	NM_001290318.1	NP_001277247.1:p.(Lys414Glu)	NC_000019.9:g.57868336A>G	(Likely) benign	1 lab	1e939a3f9f
3:133969437 RYK A>AG	3	133969437	133969438	A	AG	RYK	c.60_62=	NM_002958.4	NP_002949.2:p.(Gly20_Leu21=)	NC_000003.11:g.133969438dup	(Likely) benign	1 lab	3d902738f1
11:68153951 LRP5 C>T	11	68153951	68153951	C	T	LRP5	c.1183C>T	NM_002335.4	NP_002326.2:p.(Arg395Trp)	NC_000011.9:g.68153951C>T	VUS	1 lab	3d907d651a
X:150147938 HMGB3 G>A	X	150147938	150147938	G	A	HMGB3				NC_000023.10:g.150147938G>A	VUS	1 lab	3d90dae0f3
17:12905743 ELAC2 G>A	17	12905743	12905743	G	A	ELAC2	c.1218+15C>T	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12905743G>A	(Likely) benign	1 lab	1dfa8209bc
12:48370896 COL2A1 G>C	12	48370896	48370896	G	C	COL2A1	c.3316C>G	NM_001844.5	NP_001835.3:p.(Arg1106Gly)	NC_000012.11:g.48370896G>C	VUS	1 lab	3d936c8541
19:7620249 PNPLA6 G>A	19	7620249	7620249	G	A	PNPLA6	c.2932G>A	NM_001166114.2	NP_001159586.1:p.(Ala978Thr)	NC_000019.9:g.7620249G>A	VUS	1 lab	3d9525dfda
15:44943734 SPG11 G>C	15	44943734	44943734	G	C	SPG11	c.1411C>G	NM_025137.4	NP_079413.3:p.(Pro471Ala)	NC_000015.9:g.44943734G>C	VUS	1 lab	3d965720d1
1:2540795 MMEL1 C>T	1	2540795	2540795	C	T	MMEL1	c.518G>A	NM_033467.4	NP_258428.2:p.(Arg173His)	NC_000001.10:g.2540795C>T	VUS	1 lab	3d96636959
X:67941939 STARD8 G>A	X	67941939	67941939	G	A	STARD8	c.2510G>A	NM_001142503.3	NP_001135975.1:p.(Ser837Asn)	NC_000023.10:g.67941939G>A	VUS	1 lab	3d96be323d
16:2149896 PKD1 CGGCGTT>C	16	2149896	2149906	CGGCGTT	C	PKD1	c.9883_9888del	NM_001009944.3	NP_001009944.3:p.(Asn3295_Ala3296del)	NC_000016.9:g.2149901_2149906del	(Likely) pathogenic	1 lab	3d981a1e66
2:27449722 CAD G>T	2	27449722	27449722	G	T	CAD	c.2179G>T	NM_004341.5	NP_004332.2:p.(Ala727Ser)	NC_000002.11:g.27449722G>T	VUS	1 lab	3d9b2db93d
2:1667419 PXDN C>T	2	1667419	1667419	C	T	PXDN	c.1525G>A	NM_012293.3	NP_036425.1:p.(Gly509Ser)	NC_000002.11:g.1667419C>T	VUS	1 lab	3d9bcd418a
16:3823877 CREBBP T>C	16	3823877	3823877	T	C	CREBBP	c.2338A>G	NM_004380.3	NP_004371.2:p.(Thr780Ala)	NC_000016.9:g.3823877T>C	(Likely) benign	1 lab	3d9dd6595f
1:161183716 NDUFS2 G>A	1	161183716	161183716	G	A	NDUFS2	c.1354+5G>A	NM_001377299.1	NP_001364228.1:p.?	NC_000001.10:g.161183716G>A	VUS	1 lab	3da07fec64
9:77230509 RORB C>T	9	77230509	77230509	C	T	RORB	c.8-14689C>T	NM_006914.4	NP_008845.2:p.?	NC_000009.11:g.77230509C>T	(Likely) benign	1 lab	3da0cb4caf
15:90210222 PLIN1 T>C	15	90210222	90210222	T	C	PLIN1	c.1154A>G	NM_002666.5	NP_002657.3:p.(Asp385Gly)	NC_000015.9:g.90210222T>C	VUS	1 lab	3da17eba43
14:63174828 KCNH5 C>A	14	63174828	63174828	C	A	KCNH5	c.2365G>T	NM_139318.5	NP_647479.2:p.(Gly789Cys)	NC_000014.8:g.63174828C>A	(Likely) benign	1 lab	3da194b2d8
17:74084639 EXOC7 G>A	17	74084639	74084639	G	A	EXOC7	c.1205C>T	NM_001013839.4	NP_001013861.1:p.(Thr402Met)	NC_000017.10:g.74084639G>A	VUS	1 lab	3da21fc299
19:50100145 PRR12 GGCC>G	19	50100145	50100148	GGCC	G	PRR12	c.2554_2556del	NM_020719.3	NP_065770.1:p.(Ala852del)	NC_000019.9:g.50100146_50100148del	VUS	1 lab	3da2218331
1:237780621 RYR2 G>T	1	237780621	237780621	G	T	RYR2	c.5751G>T	NM_001035.3	NP_001026.2:p.(Gln1917His)	NC_000001.10:g.237780621G>T	VUS	1 lab	3da337cfb3
17:61556415 ACE G>C	17	61556415	61556415	G	C	ACE	c.465G>C	NM_000789.4	NP_000780.1:p.(Lys155Asn)	NC_000017.10:g.61556415G>C	VUS	1 lab	3da3a1be75
3:58094999 FLNB A>T	3	58094999	58094999	A	T	FLNB	c.2149A>T	NM_001457.4	NP_001448.2:p.(Thr717Ser)	NC_000003.11:g.58094999A>T	VUS	1 lab	3da545888f
19:29699006 UQCRFS1 G>A	19	29699006	29699006	G	A	UQCRFS1	c.274C>T	NM_006003.3	NP_005994.2:p.(Arg92Cys)	NC_000019.9:g.29699006G>A	VUS	1 lab	3da7478b85
6:118015326 NUS1 C>T	6	118015326	118015326	C	T	NUS1	c.674C>T	NM_138459.5	NP_612468.1:p.(Thr225Met)	NC_000006.11:g.118015326C>T	(Likely) benign	1 lab	3daa6c7af9
1:156843515 NTRK1 G>A	1	156843515	156843515	G	A	NTRK1	c.941G>A	NM_002529.4	NP_002520.2:p.(Arg314His)	NC_000001.10:g.156843515G>A	(Likely) benign	1 lab	3dab18e277
22:32629026 SLC5A4 C>T	22	32629026	32629026	C	T	SLC5A4	c.886-5G>A	NM_014227.3	NP_055042.1:p.?	NC_000022.10:g.32629026C>T	(Likely) benign	1 lab	3dab55b671
20:60913290 LAMA5 T>C	20	60913290	60913290	T	C	LAMA5	c.1754A>G	NM_005560.6	NP_005551.3:p.(Gln585Arg)	NC_000020.10:g.60913290T>C	VUS	1 lab	3dacacb4ec
1:38033291 GNL2 C>T	1	38033291	38033291	C	T	GNL2	c.2026G>A	NM_013285.3	NP_037417.1:p.(Ala676Thr)	NC_000001.10:g.38033291C>T	(Likely) benign	1 lab	3dae03449a
5:127486960 SLC12A2 A>G	5	127486960	127486960	A	G	SLC12A2	c.2135A>G	NM_001046.3	NP_001037.1:p.(Asn712Ser)	NC_000005.9:g.127486960A>G	VUS	1 lab	3dae2483ce
16:2223823 TRAF7 T>C	16	2223823	2223823	T	C	TRAF7	c.1121T>C	NM_032271.3	NP_115647.2:p.(Met374Thr)	NC_000016.9:g.2223823T>C	(Likely) benign	1 lab	3daf157c7e
2:202050594 CASP10 G>A	2	202050594	202050594	G	A	CASP10	c.94G>A	NM_032977.4	NP_116759.2:p.(Gly32Arg)	NC_000002.11:g.202050594G>A	VUS	1 lab	1e00243bc6
16:88782417 PIEZO1 C>T	16	88782417	88782417	C	T	PIEZO1	c.7240G>A	NM_001142864.4	NP_001136336.2:p.(Asp2414Asn)	NC_000016.9:g.88782417C>T	(Likely) benign	1 lab	3db454ca4e
20:44576374 PCIF1 C>T	20	44576374	44576374	C	T	PCIF1	c.2095C>T	NM_022104.4	NP_071387.1:p.(Arg699Cys)	NC_000020.10:g.44576374C>T	(Likely) benign	1 lab	3db4f0a54c
8:144997603 PLEC G>A	8	144997603	144997603	G	A	PLEC	c.6494C>T	NM_201384.3	NP_958786.1:p.(Ala2165Val)	NC_000008.10:g.144997603G>A	VUS	1 lab	3db5743cec
1:10699170 CASZ1 GTCGTCGTCGTCC>G	1	10699170	10699199	GTCGTCGTCGTCC	G	CASZ1	c.5097_5108del	NM_001079843.3	NP_001073312.1:p.(Glu1699_Asp1702del)	NC_000001.10:g.10699188_10699199del	VUS	1 lab	3db605e731
1:11316257 MTOR A>T	1	11316257	11316257	A	T	MTOR	c.505-8T>A	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11316257A>T	(Likely) benign	1 lab	3db61034b5
9:123903061 CNTRL T>G	9	123903061	123903061	T	G	CNTRL	c.2480T>G	NM_007018.6	NP_008949.4:p.(Met827Arg)	NC_000009.11:g.123903061T>G	(Likely) benign	1 lab	3db6bc26af
X:153296145 MECP2 G>GA	X	153296145	153296146	G	GA	MECP2	c.1169_1170insT	NM_001110792.2	NP_001104262.1:p.(Val392ArgfsTer13)	NC_000023.10:g.153296145_153296146insA	(Likely) pathogenic	1 lab	3db7a2fce7
1:984426 AGRN C>T	1	984426	984426	C	T	AGRN	c.4285C>T	NM_198576.4	NP_940978.2:p.(Arg1429Cys)	NC_000001.10:g.984426C>T	(Likely) benign	1 lab	3db8e65259
1:120458791 NOTCH2 G>A	1	120458791	120458791	G	A	NOTCH2	c.6554C>T	NM_024408.4	NP_077719.2:p.(Ala2185Val)	NC_000001.10:g.120458791G>A	VUS	1 lab	3db94d1416
3:128627047 ACAD9 G>A	3	128627047	128627047	G	A	ACAD9	c.1298G>A	NM_014049.5	NP_054768.2:p.(Arg433Gln)	NC_000003.11:g.128627047G>A	VUS	1 lab	3db9752900
16:2160184 PKD1 C>T	16	2160184	2160184	C	T	PKD1	c.4984G>A	NM_001009944.3	NP_001009944.3:p.(Val1662Ile)	NC_000016.9:g.2160184C>T	VUS	1 lab	3dba983496
5:137759842 KDM3B G>C	5	137759842	137759842	G	C	KDM3B	c.4051G>C	NM_016604.4	NP_057688.3:p.(Asp1351His)	NC_000005.9:g.137759842G>C	VUS	1 lab	3dbb3af596
12:121416649 HNF1A G>GCTCC	12	121416649	121416650	G	GCTCC	HNF1A	c.78_79insCTCC	NM_000545.8	NP_000536.6:p.(Ile27LeufsTer7)	NC_000012.11:g.121416649_121416650insCTCC	VUS	1 lab	3dbb66e084
6:152683364 SYNE1 C>G	6	152683364	152683364	C	G	SYNE1	c.10240G>C	NM_182961.4	NP_892006.3:p.(Glu3414Gln)	NC_000006.11:g.152683364C>G	(Likely) benign	1 lab	3dbc190132
19:6495765 TUBB4A C>T	19	6495765	6495765	C	T	TUBB4A	c.745G>A	NM_006087.4	NP_006078.2:p.(Asp249Asn)	NC_000019.9:g.6495765C>T	(Likely) pathogenic	1 lab	3dbce0445e
19:22363395 ZNF676 C>T	19	22363395	22363395	C	T	ZNF676	c.1124G>A	NM_001001411.3	NP_001001411.2:p.(Ser375Asn)	NC_000019.9:g.22363395C>T	(Likely) benign	1 lab	3dbcf4c66a
4:82095958 PRKG2 A>C	4	82095958	82095958	A	C	PRKG2	c.617T>G	NM_006259.3	NP_006250.1:p.(Phe206Cys)	NC_000004.11:g.82095958A>C	VUS	1 lab	3dbd1adf5e
15:57525037 TCF12 G>A	15	57525037	57525037	G	A	TCF12	c.953G>A	NM_207037.2	NP_996920.1:p.(Gly318Glu)	NC_000015.9:g.57525037G>A	(Likely) benign	1 lab	3dbe1a9291
8:10468667 RP1L1 C>G	8	10468667	10468667	C	G	RP1L1	c.2941G>C	NM_178857.6	NP_849188.4:p.(Gly981Arg)	NC_000008.10:g.10468667C>G	VUS	1 lab	3dbf85abf0
X:64749599 LAS1L T>C	X	64749599	64749599	T	C	LAS1L	c.674A>G	NM_031206.7	NP_112483.1:p.(Gln225Arg)	NC_000023.10:g.64749599T>C	(Likely) benign	1 lab	3dc0d5b132
8:22059415 BMP1 A>G	8	22059415	22059415	A	G	BMP1	c.2207A>G	NM_006129.5	NP_006120.1:p.(His736Arg)	NC_000008.10:g.22059415A>G	VUS	1 lab	3dc1b0361a
19:45854249 ERCC2 G>T	19	45854249	45854249	G	T	ERCC2	c.*638C>A	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45854249G>T	VUS	1 lab	3dc1beb024
19:16989380 SIN3B G>A	19	16989380	16989380	G	A	SIN3B	c.3235G>A	NM_001297595.2	NP_001284524.1:p.(Val1079Met)	NC_000019.9:g.16989380G>A	VUS	1 lab	3dc7526234
15:89390548 ACAN C>T	15	89390548	89390548	C	T	ACAN	c.1504C>T	NM_001369268.1	NP_001356197.1:p.(Arg502Cys)	NC_000015.9:g.89390548C>T	(Likely) benign	1 lab	3dc7a3a308
11:19914117 NAV2 C>A	11	19914117	19914117	C	A	NAV2	c.908C>A	NM_145117.5	NP_660093.2:p.(Pro303Gln)	NC_000011.9:g.19914117C>A	(Likely) benign	1 lab	3dc7bdbb96
X:48808447 OTUD5 G>T	X	48808447	48808447	G	T	OTUD5	c.594+5792C>A	NM_001136157.2	NP_001129629.1:p.?	NC_000023.10:g.48808447G>T	(Likely) benign	1 lab	3dc815b610
X:152710713 TREX2 T>C	X	152710713	152710713	T	C	TREX2	c.176A>G	NM_080701.4	NP_542432.2:p.(Lys59Arg)	NC_000023.10:g.152710713T>C	(Likely) benign	1 lab	3dcaeda19e
11:119142583 CBL T>TGGG	11	119142583	119142587	T	TGGG	CBL	c.584_586dup	NM_005188.4	NP_005179.2:p.(Gly195dup)	NC_000011.9:g.119142585_119142587dup	VUS	1 lab	3dcc09d6c5
1:156215358 PAQR6 G>A	1	156215358	156215358	G	A	PAQR6	c.480C>T	NM_198406.3	NP_940798.1:p.(Ser160=)	NC_000001.10:g.156215358G>A	(Likely) benign	1 lab	3dcde345d7
3:50379568 ZMYND10 G>A	3	50379568	50379568	G	A	ZMYND10	c.877C>T	NM_015896.4	NP_056980.2:p.(Arg293Trp)	NC_000003.11:g.50379568G>A	VUS	1 lab	3dcead30a7
16:89619468 SPG7 C>T	16	89619468	89619468	C	T	SPG7	c.1861C>T	NM_003119.4	NP_003110.1:p.(Gln621Ter)	NC_000016.9:g.89619468C>T	(Likely) pathogenic	1 lab	3dcff271c5
14:33015633 AKAP6 A>C	14	33015633	33015633	A	C	AKAP6	c.1774A>C	NM_004274.5	NP_004265.3:p.(Met592Leu)	NC_000014.8:g.33015633A>C	(Likely) benign	1 lab	3dd14059f6
1:22167786 HSPG2 G>A	1	22167786	22167786	G	A	HSPG2	c.9329-8C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22167786G>A	(Likely) benign	1 lab	3dd1e938ba
15:67479813 SMAD3 A>G	15	67479813	67479813	A	G	SMAD3	c.1120A>G	NM_005902.4	NP_005893.1:p.(Met374Val)	NC_000015.9:g.67479813A>G	VUS	1 lab	3dd1e98871
12:49333776 ARF3 A>G	12	49333776	49333776	A	G	ARF3	c.259+4T>C	NM_001659.3	NP_001650.1:p.?	NC_000012.11:g.49333776A>G	(Likely) benign	1 lab	3dd243766f
8:144998867 PLEC C>T	8	144998867	144998867	C	T	PLEC	c.5230G>A	NM_201384.3	NP_958786.1:p.(Ala1744Thr)	NC_000008.10:g.144998867C>T	(Likely) benign	1 lab	3dd34bc5eb
12:23699280 SOX5 T>C	12	23699280	23699280	T	C	SOX5	c.1567A>G	NM_006940.6	NP_008871.3:p.(Met523Val)	NC_000012.11:g.23699280T>C	VUS	1 lab	3dd38c241e
16:2136326 TSC2 G>A	16	2136326	2136326	G	A	TSC2	c.4795G>A	NM_000548.5	NP_000539.2:p.(Val1599Met)	NC_000016.9:g.2136326G>A	(Likely) benign	1 lab	3dd5523c35
7:94038870 COL1A2 T>G	7	94038870	94038870	T	G	COL1A2	c.892-6T>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038870T>G	(Likely) benign	1 lab	3dd8a81eb1
12:14943551 WBP11 G>A	12	14943551	14943551	G	A	WBP11	c.1148C>T	NM_016312.3	NP_057396.1:p.(Thr383Ile)	NC_000012.11:g.14943551G>A	(Likely) benign	1 lab	3dda005054
9:91953436 SECISBP2 A>G	9	91953436	91953436	A	G	SECISBP2	c.1153A>G	NM_024077.5	NP_076982.3:p.(Lys385Glu)	NC_000009.11:g.91953436A>G	(Likely) benign	1 lab	3ddabd3bf8
X:74284997 ABCB7 G>A	X	74284997	74284997	G	A	ABCB7	c.1739C>T	NM_001271696.3	NP_001258625.1:p.(Ala580Val)	NC_000023.10:g.74284997G>A	(Likely) benign	1 lab	3ddc4f4739
9:141012542 CACNA1B T>TC	9	141012542	141012545	T	TC	CACNA1B	c.5913+12dup	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.141012545dup	(Likely) benign	1 lab	1e98945a7e
17:56288034 MKS1 T>C	17	56288034	56288034	T	C	MKS1	c.1010A>G	NM_017777.4	NP_060247.2:p.(Glu337Gly)	NC_000017.10:g.56288034T>C	VUS	1 lab	3ddc8cdfc2
8:144886758 SCRIB C>G	8	144886758	144886758	C	G	SCRIB	c.2989G>C	NM_182706.5	NP_874365.3:p.(Glu997Gln)	NC_000008.10:g.144886758C>G	(Likely) benign	1 lab	3ddcb73678
X:123540229 TENM1 C>T	X	123540229	123540229	C	T	TENM1	c.5093G>A	NM_001163278.2	NP_001156750.1:p.(Arg1698His)	NC_000023.10:g.123540229C>T	(Likely) benign	1 lab	3ddd12264d
19:5692093 LONP1 C>G	19	5692093	5692093	C	G	LONP1	c.2830G>C	NM_004793.4	NP_004784.2:p.(Asp944His)	NC_000019.9:g.5692093C>G	(Likely) benign	1 lab	3ddd61d599
7:100404066 EPHB4 C>T	7	100404066	100404066	C	T	EPHB4	c.2460G>A	NM_004444.5	NP_004435.3:p.(Pro820=)	NC_000007.13:g.100404066C>T	(Likely) benign	1 lab	1e0269c9d1
4:122756429 BBS7 T>C	4	122756429	122756429	T	C	BBS7	c.1381A>G	NM_176824.3	NP_789794.1:p.(Ile461Val)	NC_000004.11:g.122756429T>C	VUS	1 lab	3ddff989db
9:124076251 GSN G>A	9	124076251	124076251	G	A	GSN	c.856G>A	NM_000177.5	NP_000168.1:p.(Asp286Asn)	NC_000009.11:g.124076251G>A	VUS	1 lab	1e05d3af81
9:135942462 CEL G>C	9	135942462	135942462	G	C	CEL	c.778-13G>C	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942462G>C	(Likely) benign	1 lab	3de2123c30
12:117724018 NOS1 T>G	12	117724018	117724018	T	G	NOS1	c.1181A>C	NM_000620.5	NP_000611.1:p.(Asp394Ala)	NC_000012.11:g.117724018T>G	(Likely) benign	1 lab	3de29690b7
16:29810669 KIF22 C>T	16	29810669	29810669	C	T	KIF22	c.844C>T	NM_007317.3	NP_015556.1:p.(Arg282Trp)	NC_000016.9:g.29810669C>T	VUS	1 lab	3de47b1126
2:179408207 TTN T>C	2	179408207	179408207	T	C	TTN	c.69673A>G	NM_133432.3	NP_597676.3:p.(Arg23225Gly)	NC_000002.11:g.179408207T>C	VUS	1 lab	1e99a90f94
X:53965678 PHF8 T>G	X	53965678	53965678	T	G	PHF8	c.2988A>C	NM_015107.3	NP_055922.1:p.(Gly996=)	NC_000023.10:g.53965678T>G	VUS	1 lab	3de5351fe1
9:135946989 CEL C>T	9	135946989	135946989	C	T	CEL	c.2100C>T	NM_001807.6	NP_001798.3:p.(Ala700=)	NC_000009.11:g.135946989C>T	(Likely) benign	1 lab	3de6c25fe2
X:71130954 NHSL2 G>T	X	71130954	71130954	G	T	NHSL2	c.17G>T	NM_001013627.3	NP_001013649.2:p.(Arg6Leu)	NC_000023.10:g.71130954G>T	VUS	1 lab	3de720a989
14:105858064 PACS2 C>T	14	105858064	105858064	C	T	PACS2	c.2216C>T	NM_001100913.3	NP_001094383.2:p.(Pro739Leu)	NC_000014.8:g.105858064C>T	(Likely) benign	1 lab	3de995f525
11:640090 DRD4 GCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCC>G	11	640090	640146	GCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGACTGTGCGCCCC	G	DRD4	c.850_897del	NM_000797.4	NP_000788.2:p.(Ser284_Pro299del)	NC_000011.9:g.640099_640146del	(Likely) benign	1 lab	3dec1cd53a
7:143882797 CTAGE4 G>C	7	143882797	143882797	G	C	CTAGE4	c.2201G>C	NM_198495.3	NP_940897.2:p.(Arg734Pro)	NC_000007.13:g.143882797G>C	(Likely) benign	1 lab	3dec58470d
16:51173251 SALL1 G>A	16	51173251	51173251	G	A	SALL1	c.2882C>T	NM_002968.3	NP_002959.2:p.(Ser961Phe)	NC_000016.9:g.51173251G>A	(Likely) benign	1 lab	3dedc5ec97
19:1465567 APC2 A>G	19	1465567	1465567	A	G	APC2	c.2267A>G	NM_005883.3	NP_005874.1:p.(Lys756Arg)	NC_000019.9:g.1465567A>G	VUS	1 lab	3dede4f077
17:36065061 HNF1B T>C	17	36065061	36065061	T	C	HNF1B	c.1207-5A>G	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36065061T>C	(Likely) benign	1 lab	3deeb70cdc
1:43868843 SZT2 C>G	1	43868843	43868843	C	G	SZT2	c.28-5C>G	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43868843C>G	(Likely) benign	1 lab	3deef3161e
1:79002218 PTGFR A>C	1	79002218	79002218	A	C	PTGFR	c.926A>C	NM_000959.4	NP_000950.1:p.(Lys309Thr)	NC_000001.10:g.79002218A>C	VUS	1 lab	3e1450ac77
14:65259994 SPTB C>T	14	65259994	65259994	C	T	SPTB	c.2387G>A	NM_001355436.2	NP_001342365.1:p.(Arg796His)	NC_000014.8:g.65259994C>T	VUS	1 lab	3def5e2089
14:74970038 LTBP2 G>A	14	74970038	74970038	G	A	LTBP2	c.4772C>T	NM_000428.3	NP_000419.1:p.(Thr1591Ile)	NC_000014.8:g.74970038G>A	VUS	1 lab	3df0fa7fec
11:88911407 TYR A>T	11	88911407	88911407	A	T	TYR	c.286A>T	NM_000372.5	NP_000363.1:p.(Met96Leu)	NC_000011.9:g.88911407A>T	VUS	1 lab	3df12fef73
1:1454346 ATAD3A C>T	1	1454346	1454346	C	T	ATAD3A	c.490C>T	NM_001170535.3	NP_001164006.1:p.(Gln164Ter)	NC_000001.10:g.1454346C>T	(Likely) pathogenic	1 lab	3df1328341
17:73489020 TMEM94 T>C	17	73489020	73489020	T	C	TMEM94	c.1923T>C	NM_014738.6	NP_055553.3:p.(Pro641=)	NC_000017.10:g.73489020T>C	(Likely) benign	1 lab	3df206a43b
9:94499701 ROR2 C>T	9	94499701	94499701	C	T	ROR2	c.594G>A	NM_004560.4	NP_004551.2:p.(Met198Ile)	NC_000009.11:g.94499701C>T	VUS	1 lab	3e92da738b
1:47882545 FOXE3 CCCCTACGCG>C	1	47882545	47882566	CCCCTACGCG	C	FOXE3	c.571_579del	NM_012186.3	NP_036318.1:p.(Tyr191_Pro193del)	NC_000001.10:g.47882558_47882566del	VUS	1 lab	3df25c5a66
17:48685356 CACNA1G C>T	17	48685356	48685356	C	T	CACNA1G	c.4681C>T	NM_018896.5	NP_061496.2:p.(Arg1561Ter)	NC_000017.10:g.48685356C>T	VUS	1 lab	1e06927c61
12:110221529 TRPV4 G>A	12	110221529	110221529	G	A	TRPV4	c.2513C>T	NM_021625.5	NP_067638.3:p.(Pro838Leu)	NC_000012.11:g.110221529G>A	(Likely) benign	1 lab	3df28e665c
2:54873424 SPTBN1 G>C	2	54873424	54873424	G	C	SPTBN1	c.4678G>C	NM_003128.3	NP_003119.2:p.(Ala1560Pro)	NC_000002.11:g.54873424G>C	(Likely) benign	1 lab	3df2dddae7
22:36678775 MYH9 T>A	22	36678775	36678775	T	A	MYH9	c.5822A>T	NM_002473.6	NP_002464.1:p.(Asp1941Val)	NC_000022.10:g.36678775T>A	(Likely) benign	1 lab	3df364fdc2
12:41330621 CNTN1 G>A	12	41330621	41330621	G	A	CNTN1	c.1024G>A	NM_001843.4	NP_001834.2:p.(Val342Met)	NC_000012.11:g.41330621G>A	VUS	1 lab	3df36f893c
6:135778731 AHI1 C>T	6	135778731	135778731	C	T	AHI1	c.1052G>A	NM_001134831.2	NP_001128303.1:p.(Arg351Gln)	NC_000006.11:g.135778731C>T	VUS	1 lab	3df543a301
11:67934550 KMT5B A>G	11	67934550	67934550	A	G	KMT5B	c.1073T>C	NM_017635.5	NP_060105.3:p.(Leu358Ser)	NC_000011.9:g.67934550A>G	VUS	1 lab	3df61a7ae2
14:99976969 CCNK C>T	14	99976969	99976969	C	T	CCNK	c.1593C>T	NM_001099402.2	NP_001092872.1:p.(Pro531=)	NC_000014.8:g.99976969C>T	(Likely) benign	1 lab	3df63ea9d3
16:2160371 PKD1 G>C	16	2160371	2160371	G	C	PKD1	c.4797C>G	NM_001009944.3	NP_001009944.3:p.(Tyr1599Ter)	NC_000016.9:g.2160371G>C	(Likely) pathogenic	1 lab	3df640d2f5
19:1037801 CNN2 A>C	19	1037801	1037801	A	C	CNN2	c.832A>C	NM_004368.4	NP_004359.1:p.(Thr278Pro)	NC_000019.9:g.1037801A>C	(Likely) benign	1 lab	3df7d42cea
7:1511950 INTS1 G>A	7	1511950	1511950	G	A	INTS1	c.6143C>T	NM_001080453.3	NP_001073922.2:p.(Ala2048Val)	NC_000007.13:g.1511950G>A	VUS	1 lab	3df87b28bd
5:149498324 PDGFRB C>T	5	149498324	149498324	C	T	PDGFRB	c.2890G>A	NM_002609.4	NP_002600.1:p.(Glu964Lys)	NC_000005.9:g.149498324C>T	VUS	1 lab	3df89c5914
3:149639021 RNF13 A>G	3	149639021	149639021	A	G	RNF13	c.700+7A>G	NM_183381.3	NP_899237.1:p.?	NC_000003.11:g.149639021A>G	(Likely) benign	1 lab	3dfb962844
7:44192905 GCK C>T	7	44192905	44192905	C	T	GCK	c.203G>A	NM_000162.5	NP_000153.1:p.(Gly68Asp)	NC_000007.13:g.44192905C>T	VUS	1 lab	3e00303159
11:17496451 ABCC8 T>G	11	17496451	17496451	T	G	ABCC8	c.272A>C	NM_000352.6	NP_000343.2:p.(Glu91Ala)	NC_000011.9:g.17496451T>G	VUS	1 lab	3e003a95ff
20:40054004 CHD6 G>A	20	40054004	40054004	G	A	CHD6	c.4160C>T	NM_032221.5	NP_115597.3:p.(Pro1387Leu)	NC_000020.10:g.40054004G>A	(Likely) benign	1 lab	3e0208a271
3:134251704 CEP63 G>T	3	134251704	134251704	G	T	CEP63	c.403G>T	NM_001353108.3	NP_001340037.1:p.(Asp135Tyr)	NC_000003.11:g.134251704G>T	VUS	1 lab	3e02be5b24
3:25761026 NGLY1 GGT>G	3	25761026	25761032	GGT	G	NGLY1	c.1888_1889del	NM_018297.4	NP_060767.2:p.(Thr630ProfsTer4)	NC_000003.11:g.25761031_25761032del	(Likely) pathogenic	1 lab	3e03423e6e
3:38622672 SCN5A G>A	3	38622672	38622672	G	A	SCN5A	c.2978C>T	NM_000335.5	NP_000326.2:p.(Ala993Val)	NC_000003.11:g.38622672G>A	VUS	1 lab	3e038e0088
8:100830700 VPS13B A>G	8	100830700	100830700	A	G	VPS13B	c.8383A>G	NM_152564.5	NP_689777.3:p.(Ile2795Val)	NC_000008.10:g.100830700A>G	VUS	1 lab	3e041e7e20
10:79742518 POLR3A C>T	10	79742518	79742518	C	T	POLR3A	c.3487G>A	NM_007055.4	NP_008986.2:p.(Gly1163Ser)	NC_000010.10:g.79742518C>T	VUS	1 lab	3e04704027
12:52714820 KRT83 T>C	12	52714820	52714820	T	C	KRT83	c.300A>G	NM_002282.3	NP_002273.3:p.(Ile100Met)	NC_000012.11:g.52714820T>C	VUS	1 lab	3e04f08a62
18:6964716 LAMA1 G>A	18	6964716	6964716	G	A	LAMA1	c.7282C>T	NM_005559.4	NP_005550.2:p.(Arg2428Cys)	NC_000018.9:g.6964716G>A	VUS	1 lab	3e05737d1f
10:89473068 PAPSS2 G>GGA	10	89473068	89473069	G	GGA	PAPSS2	c.381+1_381+2insGA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068_89473069insGA	VUS	1 lab	3e0679ede7
10:61905783 ANK3 T>C	10	61905783	61905783	T	C	ANK3	c.2615-6938A>G	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61905783T>C	(Likely) benign	1 lab	3e06981ca7
12:80214658 PPP1R12A A>G	12	80214658	80214658	A	G	PPP1R12A	c.1010T>C	NM_002480.3	NP_002471.1:p.(Leu337Pro)	NC_000012.11:g.80214658A>G	(Likely) benign	1 lab	3e06e53ed8
15:66996359 SMAD6 G>A	15	66996359	66996359	G	A	SMAD6	c.763G>A	NM_005585.5	NP_005576.3:p.(Asp255Asn)	NC_000015.9:g.66996359G>A	VUS	1 lab	3e088d35c0
X:153539340 TKTL1 C>G	X	153539340	153539340	C	G	TKTL1	c.504C>G	NM_012253.4	NP_036385.3:p.(His168Gln)	NC_000023.10:g.153539340C>G	VUS	1 lab	3e08dbe10f
16:4935132 PPL CGCACCTTCTCCT>C	16	4935132	4935149	CGCACCTTCTCCT	C	PPL	c.3512_3523del	NM_002705.5	NP_002696.4:p.(Gln1171_Val1174del)	NC_000016.9:g.4935138_4935149del	VUS	1 lab	3e0b1e4541
9:140917995 CACNA1B C>G	9	140917995	140917995	C	G	CACNA1B	c.2800C>G	NM_000718.4	NP_000709.1:p.(Arg934Gly)	NC_000009.11:g.140917995C>G	VUS	1 lab	3e0d7adf9b
19:54632507 PRPF31 C>T	19	54632507	54632507	C	T	PRPF31	c.1222C>T	NM_015629.4	NP_056444.3:p.(Arg408Trp)	NC_000019.9:g.54632507C>T	VUS	1 lab	3e0e8e66ae
14:63174309 KCNH5 G>A	14	63174309	63174309	G	A	KCNH5	c.2884C>T	NM_139318.5	NP_647479.2:p.(Pro962Ser)	NC_000014.8:g.63174309G>A	(Likely) benign	1 lab	3e0ef7cd3b
2:241752341 KIF1A A>T	2	241752341	241752341	A	T	KIF1A	c.-61+7198T>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241752341A>T	VUS	1 lab	3e0efaf457
15:57967260 MYZAP T>C	15	57967260	57967260	T	C	MYZAP	c.1298T>C	NM_001018100.5	NP_001018110.1:p.(Leu433Pro)	NC_000015.9:g.57967260T>C	(Likely) benign	1 lab	33edf17b89
16:71610283 TAT G>A	16	71610283	71610283	G	A	TAT	c.36C>T	NM_000353.3	NP_000344.1:p.(Gly12=)	NC_000016.9:g.71610283G>A	VUS	1 lab	3e10124eda
6:15504785 JARID2 A>G	6	15504785	15504785	A	G	JARID2	c.2503A>G	NM_004973.4	NP_004964.2:p.(Met835Val)	NC_000006.11:g.15504785A>G	VUS	1 lab	3e116ffb50
5:22078625 CDH12 C>T	5	22078625	22078625	C	T	CDH12	c.161G>A	NM_004061.5	NP_004052.2:p.(Arg54His)	NC_000005.9:g.22078625C>T	VUS	1 lab	3e12227cbd
16:89761759 CDK10 T>C	16	89761759	89761759	T	C	CDK10	c.985+6T>C	NM_052988.5	NP_443714.3:p.?	NC_000016.9:g.89761759T>C	VUS	1 lab	3e1277ac2e
14:24705323 GMPR2 C>T	14	24705323	24705323	C	T	GMPR2	c.442C>T	NM_001002002.3	NP_001002002.1:p.(Arg148Cys)	NC_000014.8:g.24705323C>T	(Likely) benign	1 lab	3e14410b65
15:67073560 SMAD6 T>C	15	67073560	67073560	T	C	SMAD6	c.1178T>C	NM_005585.5	NP_005576.3:p.(Leu393Pro)	NC_000015.9:g.67073560T>C	VUS	1 lab	3e14733472
17:80878433 TBCD G>T	17	80878433	80878433	G	T	TBCD	c.2040G>T	NM_005993.5	NP_005984.3:p.(Val680=)	NC_000017.10:g.80878433G>T	(Likely) benign	1 lab	3e181c5b86
6:129612779 LAMA2 G>T	6	129612779	129612779	G	T	LAMA2	c.2770G>T	NM_000426.4	NP_000417.3:p.(Gly924Cys)	NC_000006.11:g.129612779G>T	VUS	1 lab	3e18fce60f
16:23641245 PALB2 C>T	16	23641245	23641245	C	T	PALB2	c.2230G>A	NM_024675.4	NP_078951.2:p.(Glu744Lys)	NC_000016.9:g.23641245C>T	VUS	1 lab	3e1a71e5de
5:67569230 PIK3R1 C>T	5	67569230	67569230	C	T	PIK3R1	c.347C>T	NM_181523.3	NP_852664.1:p.(Pro116Leu)	NC_000005.9:g.67569230C>T	VUS	1 lab	3e1b51095f
X:100747681 ARMCX4 G>A	X	100747681	100747681	G	A	ARMCX4	c.4105G>A	NM_001256155.3	NP_001243084.2:p.(Val1369Ile)	NC_000023.10:g.100747681G>A	(Likely) benign	1 lab	3e1f19b8c4
10:61835502 ANK3 C>T	10	61835502	61835502	C	T	ANK3	c.5137G>A	NM_020987.5	NP_066267.2:p.(Val1713Ile)	NC_000010.10:g.61835502C>T	(Likely) benign	1 lab	3e2447e846
17:40094864 ODAD4 C>T	17	40094864	40094864	C	T	ODAD4	c.680C>T	NM_031421.5	NP_113609.1:p.(Thr227Met)	NC_000017.10:g.40094864C>T	VUS	1 lab	3e24bcc131
3:46940342 PTH1R G>A	3	46940342	46940342	G	A	PTH1R	c.829G>A	NM_000316.3	NP_000307.1:p.(Gly277Ser)	NC_000003.11:g.46940342G>A	VUS	1 lab	3e27af6c0c
1:1229084 ACAP3 G>A	1	1229084	1229084	G	A	ACAP3	c.2365C>T	NM_030649.3	NP_085152.2:p.(Arg789Cys)	NC_000001.10:g.1229084G>A	VUS	1 lab	3e2af26020
X:109696514 RTL9 G>A	X	109696514	109696514	G	A	RTL9	c.2669G>A	NM_001385449.1	NP_001372378.1:p.(Arg890Gln)	NC_000023.10:g.109696514G>A	(Likely) benign	1 lab	3e2d775eed
1:225609884 LBR A>G	1	225609884	225609884	A	G	LBR	c.261T>C	NM_002296.4	NP_002287.2:p.(Pro87=)	NC_000001.10:g.225609884A>G	(Likely) benign	1 lab	1e0a097b15
6:51618136 PKHD1 G>A	6	51618136	51618136	G	A	PKHD1	c.8813C>T	NM_138694.4	NP_619639.3:p.(Thr2938Met)	NC_000006.11:g.51618136G>A	(Likely) benign	1 lab	3e2fddea46
7:144061130 ARHGEF5 C>G	7	144061130	144061130	C	G	ARHGEF5	c.1368C>G	NM_005435.4	NP_005426.2:p.(Ile456Met)	NC_000007.13:g.144061130C>G	VUS	1 lab	3e30dceb01
6:29638101 MOG T>C	6	29638101	29638101	T	C	MOG	c.636T>C	NM_206809.4	NP_996532.2:p.(Phe212=)	NC_000006.11:g.29638101T>C	(Likely) benign	1 lab	3e315e2856
4:5667352 EVC2 CGTGGAGGCCGTGGTGCGGCAGAACCT>C	4	5667352	5667384	CGTGGAGGCCGTGGTGCGGCAGAACCT	C	EVC2	c.871-2_894del	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5667359_5667384del	(Likely) pathogenic	1 lab	3e32284cd5
2:217498296 IGFBP2 T>TGCTGCCGCC	2	217498296	217498305	T	TGCTGCCGCC	IGFBP2	c.58_59insCGCTGCCGC	NM_000597.3	NP_000588.3:p.(Pro19_Leu20insProLeuPro)	NC_000002.11:g.217498304_217498305insCGCTGCCGC	VUS	1 lab	3e33513270
11:17409055 KCNJ11 C>T	11	17409055	17409055	C	T	KCNJ11	c.584G>A	NM_000525.4	NP_000516.3:p.(Arg195His)	NC_000011.9:g.17409055C>T	(Likely) benign	1 lab	3e3539df5d
7:65432718 GUSB C>G	7	65432718	65432718	C	G	GUSB	c.1653G>C	NM_000181.4	NP_000172.2:p.(Gln551His)	NC_000007.13:g.65432718C>G	VUS	1 lab	3e37913b90
2:50779617 NRXN1 A>G	2	50779617	50779617	A	G	NRXN1	c.1759+108T>C	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50779617A>G	(Likely) benign	1 lab	1ea778879b
2:112854837 TMEM87B C>A	2	112854837	112854837	C	A	TMEM87B	c.1241C>A	NM_032824.3	NP_116213.1:p.(Thr414Asn)	NC_000002.11:g.112854837C>A	VUS	1 lab	3e3a35fd2d
2:166198975 SCN2A G>A	2	166198975	166198975	G	A	SCN2A	c.2558G>A	NM_001040142.2	NP_001035232.1:p.(Arg853Gln)	NC_000002.11:g.166198975G>A	VUS	1 lab	3e3dc84a1f
5:38496579 LIFR C>T	5	38496579	38496579	C	T	LIFR	c.1790G>A	NM_001127671.2	NP_001121143.1:p.(Arg597Gln)	NC_000005.9:g.38496579C>T	(Likely) benign	1 lab	3e3e7ebcdf
4:3495111 DOK7 G>GCCTGGC	4	3495111	3495121	G	GCCTGGC	DOK7	c.1403_1408dup	NM_173660.5	NP_775931.3:p.(Gly468_Pro469dup)	NC_000004.11:g.3495116_3495121dup	VUS	1 lab	3e3e9d5ab5
17:78055781 CCDC40 A>G	17	78055781	78055781	A	G	CCDC40	c.1913A>G	NM_017950.4	NP_060420.2:p.(Glu638Gly)	NC_000017.10:g.78055781A>G	VUS	1 lab	3e3edf1cb2
9:135946983 CEL CG>C	9	135946983	135946987	CG	C	CEL	c.2098del	NM_001807.6	NP_001798.3:p.(Ala700ProfsTer4)	NC_000009.11:g.135946987del	VUS	1 lab	3e4002f3b8
13:111156609 COL4A2 A>C	13	111156609	111156609	A	C	COL4A2	c.4400A>C	NM_001846.4	NP_001837.2:p.(Glu1467Ala)	NC_000013.10:g.111156609A>C	(Likely) benign	1 lab	3e412abfa9
2:179449651 TTN C>G	2	179449651	179449651	C	G	TTN	c.64717G>C	NM_001267550.2	NP_001254479.2:p.(Asp21573His)	NC_000002.11:g.179449651C>G	VUS	1 lab	1e0b53f2ca
11:2906047 CDKN1C C>G	11	2906047	2906047	C	G	CDKN1C	c.640G>C	NM_001122630.2	NP_001116102.1:p.(Glu214Gln)	NC_000011.9:g.2906047C>G	(Likely) benign	1 lab	3e42a802e2
16:8995005 USP7 T>C	16	8995005	8995005	T	C	USP7	c.2134A>G	NM_003470.3	NP_003461.2:p.(Lys712Glu)	NC_000016.9:g.8995005T>C	(Likely) benign	1 lab	3e42c0c685
3:87289848 CHMP2B G>A	3	87289848	87289848	G	A	CHMP2B	c.35-1G>A	NM_014043.4	NP_054762.2:p.?	NC_000003.11:g.87289848G>A	VUS	1 lab	3e475c77f7
5:118865590 HSD17B4 T>A	5	118865590	118865590	T	A	HSD17B4	c.1769T>A	NM_000414.4	NP_000405.1:p.(Val590Asp)	NC_000005.9:g.118865590T>A	VUS	1 lab	3e484e1539
12:88448147 CEP290 T>C	12	88448147	88448147	T	C	CEP290	c.7004A>G	NM_025114.4	NP_079390.3:p.(Gln2335Arg)	NC_000012.11:g.88448147T>C	(Likely) benign	1 lab	3e488a689a
16:21053417 DNAH3 T>G	16	21053417	21053417	T	G	DNAH3	c.4432A>C	NM_001347886.2	NP_001334815.1:p.(Thr1478Pro)	NC_000016.9:g.21053417T>G	VUS	1 lab	3e49d803a3
6:129826468 LAMA2 C>G	6	129826468	129826468	C	G	LAMA2	c.8671C>G	NM_000426.4	NP_000417.3:p.(Pro2891Ala)	NC_000006.11:g.129826468C>G	(Likely) benign	1 lab	3e49e2087c
3:58111439 FLNB AACAAGCCCAATGTCTTC>A	3	58111439	58111458	AACAAGCCCAATGTCTTC	A	FLNB	c.4033_4049del	NM_001457.4	NP_001448.2:p.(Lys1345ArgfsTer16)	NC_000003.11:g.58111442_58111458del	VUS	1 lab	3e4a874bda
12:6777069 ZNF384 TTGCTGCTGCTGC>T	12	6777069	6777113	TTGCTGCTGCTGC	T	ZNF384	c.1626_1637del	NM_001385745.1	NP_001372674.1:p.(Gln544_Gln547del)	NC_000012.11:g.6777102_6777113del	VUS	1 lab	3e4b2ab8bc
8:39606893 ADAM2 C>T	8	39606893	39606893	C	T	ADAM2	c.1952G>A	NM_001464.5	NP_001455.3:p.(Trp651Ter)	NC_000008.10:g.39606893C>T	VUS	1 lab	3e4bd81f32
2:179497463 TTN C>T	2	179497463	179497463	C	T	TTN	c.43270G>A	NM_001267550.2	NP_001254479.2:p.(Glu14424Lys)	NC_000002.11:g.179497463C>T	VUS	1 lab	3e4c11c98b
19:4965612 MISSING C>CTT	19	4965612	4965626	C	CTT	MISSING				NC_000019.9:g.4965625_4965626dup	(Likely) benign	1 lab	3e4cb70c68
9:35094278 PIGO G>A	9	35094278	35094278	G	A	PIGO	c.590C>T	NM_032634.4	NP_116023.2:p.(Pro197Leu)	NC_000009.11:g.35094278G>A	(Likely) pathogenic	1 lab	3e4d49e611
6:152752095 SYNE1 C>T	6	152752095	152752095	C	T	SYNE1	c.4462-251G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152752095C>T	(Likely) benign	1 lab	3e4e407450
17:39406008 KRTAP9-4 ATGCTGCAGGACCACC>A	17	39406008	39406043	ATGCTGCAGGACCACC	A	KRTAP9-4	c.57_71del	NM_033191.3	NP_149461.2:p.(Cys19_Cys23del)	NC_000017.10:g.39406029_39406043del	(Likely) benign	1 lab	3e4fce3ec1
7:8009280 GLCCI1 C>T	7	8009280	8009280	C	T	GLCCI1	c.299C>T	NM_138426.4	NP_612435.1:p.(Ala100Val)	NC_000007.13:g.8009280C>T	(Likely) benign	1 lab	3e50f350da
2:216243880 FN1 GCT>TTC	2	216243880	216243882	GCT	TTC	FN1	c.5593_5595delinsGAA	NM_212482.4	NP_997647.2:p.(Ser1865Glu)	NC_000002.11:g.216243880_216243882delinsTTC	VUS	1 lab	3e514d5e22
2:168106299 XIRP2 G>A	2	168106299	168106299	G	A	XIRP2	c.8397G>A	NM_152381.6	NP_689594.4:p.(Met2799Ile)	NC_000002.11:g.168106299G>A	VUS	1 lab	3e51cbbe73
21:34950728 DONSON G>A	21	34950728	34950728	G	A	DONSON	c.1586C>T	NM_017613.4	NP_060083.1:p.(Thr529Ile)	NC_000021.8:g.34950728G>A	(Likely) benign	1 lab	3e51ce3eb6
10:46252545 WASHC2C T>G	10	46252545	46252545	T	G	WASHC2C	c.1506T>G	NM_001330074.2	NP_001317003.1:p.(Thr502=)	NC_000010.10:g.46252545T>G	VUS	1 lab	3e51d3286b
12:105556575 WASHC4 A>T	12	105556575	105556575	A	T	WASHC4	c.3109A>T	NM_015275.3	NP_056090.1:p.(Lys1037Ter)	NC_000012.11:g.105556575A>T	VUS	1 lab	3e52503c7f
2:25965764 ASXL2 C>T	2	25965764	25965764	C	T	ASXL2	c.3442G>A	NM_018263.6	NP_060733.4:p.(Asp1148Asn)	NC_000002.11:g.25965764C>T	(Likely) benign	1 lab	3e528834dc
6:143093193 HIVEP2 C>T	6	143093193	143093193	C	T	HIVEP2	c.2683G>A	NM_006734.4	NP_006725.3:p.(Glu895Lys)	NC_000006.11:g.143093193C>T	VUS	1 lab	3e538746e6
8:144995492 PLEC C>T	8	144995492	144995492	C	T	PLEC	c.8497G>A	NM_201384.3	NP_958786.1:p.(Gly2833Ser)	NC_000008.10:g.144995492C>T	VUS	1 lab	3e55c3fa9a
6:26157055 H1-4 C>T	6	26157055	26157055	C	T	H1-4	c.437C>T	NM_005321.3	NP_005312.1:p.(Thr146Ile)	NC_000006.11:g.26157055C>T	(Likely) benign	1 lab	3e567b6064
7:44190645 GCK G>A	7	44190645	44190645	G	A	GCK	c.393C>T	NM_000162.5	NP_000153.1:p.(Ser131=)	NC_000007.13:g.44190645G>A	(Likely) benign	1 lab	3e56a8090c
11:124749204 ROBO3 A>G	11	124749204	124749204	A	G	ROBO3	c.3652A>G	NM_022370.4	NP_071765.2:p.(Ser1218Gly)	NC_000011.9:g.124749204A>G	(Likely) benign	1 lab	3e579b9664
17:17698852 RAI1 G>A	17	17698852	17698852	G	A	RAI1	c.2590G>A	NM_030665.4	NP_109590.3:p.(Asp864Asn)	NC_000017.10:g.17698852G>A	(Likely) benign	1 lab	3e57ccc686
17:40695355 NAGLU C>T	17	40695355	40695355	C	T	NAGLU	c.1331C>T	NM_000263.4	NP_000254.2:p.(Ala444Val)	NC_000017.10:g.40695355C>T	VUS	1 lab	3e5963e64f
2:109370389 RANBP2 A>T	2	109370389	109370389	A	T	RANBP2	c.2164A>T	NM_006267.4	NP_006258.3:p.(Ile722Leu)	NC_000002.11:g.109370389A>T	(Likely) benign	1 lab	33f0e56168
5:14485344 TRIO A>G	5	14485344	14485344	A	G	TRIO	c.6824A>G	NM_007118.4	NP_009049.2:p.(Asn2275Ser)	NC_000005.9:g.14485344A>G	VUS	1 lab	3e59b01bcd
2:166892934 SCN1A C>T	2	166892934	166892934	C	T	SCN1A	c.3053G>A	NM_001165963.4	NP_001159435.1:p.(Arg1018Lys)	NC_000002.11:g.166892934C>T	VUS	1 lab	3e5adba7d9
2:136670141 DARS1 A>C	2	136670141	136670141	A	C	DARS1	c.1150-5T>G	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136670141A>C	(Likely) benign	1 lab	3e5b2270b6
22:32015746 PISD T>TCTCTA	22	32015746	32015751	T	TCTCTA	PISD	c.1077_1081dup	NM_001326411.2	NP_001313340.1:p.(Glu361ValfsTer36)	NC_000022.10:g.32015747_32015751dup	VUS	1 lab	3e5b3bf7b0
13:77713332 MYCBP2 T>C	13	77713332	77713332	T	C	MYCBP2	c.7658A>G	NM_015057.5	NP_055872.4:p.(Asp2553Gly)	NC_000013.10:g.77713332T>C	(Likely) benign	1 lab	3e5c45c21c
17:36064938 HNF1B A>G	17	36064938	36064938	A	G	HNF1B	c.1325T>C	NM_000458.4	NP_000449.1:p.(Met442Thr)	NC_000017.10:g.36064938A>G	(Likely) pathogenic	1 lab	3e5c624d89
22:35796605 MCM5 C>T	22	35796605	35796605	C	T	MCM5	c.167+7C>T	NM_006739.4	NP_006730.2:p.?	NC_000022.10:g.35796605C>T	(Likely) benign	1 lab	3e5d285a73
X:148039906 AFF2 C>T	X	148039906	148039906	C	T	AFF2	c.2608C>T	NM_002025.4	NP_002016.2:p.(Arg870Cys)	NC_000023.10:g.148039906C>T	VUS	1 lab	1e1216c904
5:96232515 ERAP2 A>C	5	96232515	96232515	A	C	ERAP2	c.1451A>C	NM_022350.5	NP_071745.1:p.(Lys484Thr)	NC_000005.9:g.96232515A>C	(Likely) benign	1 lab	3e62e95aad
16:58620526 CNOT1 T>C	16	58620526	58620526	T	C	CNOT1	c.560A>G	NM_016284.5	NP_057368.3:p.(His187Arg)	NC_000016.9:g.58620526T>C	(Likely) benign	1 lab	3e647c4329
9:132630733 USP20 C>T	9	132630733	132630733	C	T	USP20	c.1135+5C>T	NM_001110303.4	NP_001103773.2:p.?	NC_000009.11:g.132630733C>T	(Likely) benign	1 lab	3e65593411
11:1266413 MUC5B G>C	11	1266413	1266413	G	C	MUC5B	c.8303G>C	NM_002458.3	NP_002449.2:p.(Arg2768Pro)	NC_000011.9:g.1266413G>C	(Likely) benign	1 lab	3e6735caf1
22:40661502 TNRC6B G>T	22	40661502	40661502	G	T	TNRC6B	c.1268G>T	NM_001162501.2	NP_001155973.1:p.(Gly423Val)	NC_000022.10:g.40661502G>T	(Likely) benign	1 lab	3e67c196e7
X:56292093 KLF8 G>A	X	56292093	56292093	G	A	KLF8	c.562G>A	NM_007250.5	NP_009181.2:p.(Val188Met)	NC_000023.10:g.56292093G>A	(Likely) benign	1 lab	3e67d5d1c6
5:42718719 GHR T>A	5	42718719	42718719	T	A	GHR	c.1110T>A	NM_000163.5	NP_000154.1:p.(His370Gln)	NC_000005.9:g.42718719T>A	(Likely) benign	1 lab	3e684dcb8e
12:2681991 CACNA1C C>A	12	2681991	2681991	C	A	CACNA1C	c.1895+5031C>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2681991C>A	(Likely) benign	1 lab	3e69b21c4c
11:118392107 KMT2A A>G	11	118392107	118392107	A	G	KMT2A	c.11618A>G	NM_001197104.2	NP_001184033.1:p.(Lys3873Arg)	NC_000011.9:g.118392107A>G	VUS	1 lab	3e6a602384
1:161165425 ADAMTS4 C>T	1	161165425	161165425	C	T	ADAMTS4	c.1091G>A	NM_005099.6	NP_005090.3:p.(Gly364Asp)	NC_000001.10:g.161165425C>T	(Likely) benign	1 lab	3e6eb0cddf
22:17601822 TMEM121B C>T	22	17601822	17601822	C	T	TMEM121B	c.196G>A	NM_031890.4	NP_114096.1:p.(Gly66Ser)	NC_000022.10:g.17601822C>T	(Likely) benign	1 lab	3e7022c87e
X:70349009 MED12 G>T	X	70349009	70349009	G	T	MED12	c.3521G>T	NM_005120.3	NP_005111.2:p.(Arg1174Leu)	NC_000023.10:g.70349009G>T	VUS	1 lab	3e705cede8
12:7241986 C1R A>C	12	7241986	7241986	A	C	C1R	c.671T>G	NM_001733.7	NP_001724.4:p.(Ile224Ser)	NC_000012.11:g.7241986A>C	VUS	1 lab	3e723f5da2
21:45708278 AIRE G>A	21	45708278	45708278	G	A	AIRE	c.589G>A	NM_000383.4	NP_000374.1:p.(Gly197Arg)	NC_000021.8:g.45708278G>A	(Likely) benign	1 lab	3e72457830
X:13779287 OFD1 C>CTCTCCATCCCTCCTG	X	13779287	13779308	C	CTCTCCATCCCTCCTG	OFD1	c.2351_2365dup	NM_003611.3	NP_003602.1:p.(Ile784_Ser788dup)	NC_000023.10:g.13779294_13779308dup	VUS	1 lab	3e7420cf85
6:132643992 MOXD1 C>G	6	132643992	132643992	C	G	MOXD1	c.1131G>C	NM_015529.4	NP_056344.2:p.(Lys377Asn)	NC_000006.11:g.132643992C>G	VUS	1 lab	3e747f3f29
9:140040308 GRIN1 C>T	9	140040308	140040308	C	T	GRIN1	c.524C>T	NM_007327.4	NP_015566.1:p.(Ala175Val)	NC_000009.11:g.140040308C>T	VUS	1 lab	3e7585a2f8
3:188327442 LPP G>A	3	188327442	188327442	G	A	LPP	c.923G>A	NM_001375462.1	NP_001362391.1:p.(Gly308Glu)	NC_000003.11:g.188327442G>A	VUS	1 lab	3e75e9c937
4:25158468 SEPSECS C>T	4	25158468	25158468	C	T	SEPSECS	c.388+10G>A	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25158468C>T	(Likely) benign	1 lab	3e7757e405
5:1216950 SLC6A19 G>A	5	1216950	1216950	G	A	SLC6A19	c.1063G>A	NM_001003841.3	NP_001003841.1:p.(Val355Met)	NC_000005.9:g.1216950G>A	VUS	1 lab	1e15361822
3:9782586 BRPF1 GAC>G	3	9782586	9782592	GAC	G	BRPF1	c.1688_1689del	NM_001003694.2	NP_001003694.1:p.(His563ProfsTer8)	NC_000003.11:g.9782591_9782592del	VUS	1 lab	3e788136f8
1:21889597 ALPL C>G	1	21889597	21889597	C	G	ALPL	c.298-6C>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21889597C>G	(Likely) benign	1 lab	3e79d221b5
1:247587268 NLRP3 A>G	1	247587268	247587268	A	G	NLRP3	c.517A>G	NM_001243133.2	NP_001230062.1:p.(Lys173Glu)	NC_000001.10:g.247587268A>G	VUS	1 lab	1eab3f121f
8:61765443 CHD7 A>AG	8	61765443	61765444	A	AG	CHD7	c.6159_6160insG	NM_017780.4	NP_060250.2:p.(Thr2054AspfsTer6)	NC_000008.10:g.61765443_61765444insG	(Likely) pathogenic	1 lab	3e7a5cae82
16:427141 PGAP6 G>A	16	427141	427141	G	A	PGAP6	c.531C>T	NM_021259.3	NP_067082.2:p.(Tyr177=)	NC_000016.9:g.427141G>A	(Likely) benign	1 lab	3e7b885634
2:198256919 SF3B1 A>G	2	198256919	198256919	A	G	SF3B1	c.*108T>C	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198256919A>G	(Likely) benign	1 lab	3e7c45d536
14:20528481 OR4L1 C>T	14	20528481	20528481	C	T	OR4L1	c.278C>T	NM_001004717.1	NP_001004717.1:p.(Ser93Phe)	NC_000014.8:g.20528481C>T	VUS	1 lab	3e7cb9b95a
5:77452134 AP3B1 G>A	5	77452134	77452134	G	A	AP3B1	c.1421C>T	NM_003664.5	NP_003655.3:p.(Ala474Val)	NC_000005.9:g.77452134G>A	(Likely) benign	1 lab	3e7cf8679a
19:50098651 PRR12 AGCCACGGCTGGGGCATCTGGCCGG>A	19	50098651	50098682	AGCCACGGCTGGGGCATCTGGCCGG	A	PRR12	c.1067_1090del	NM_020719.3	NP_065770.1:p.(Ala356_Thr363del)	NC_000019.9:g.50098659_50098682del	VUS	1 lab	3e7d2973ea
12:133378429 GOLGA3 C>T	12	133378429	133378429	C	T	GOLGA3	c.1724G>A	NM_001389683.1	NP_001376612.1:p.(Arg575Gln)	NC_000012.11:g.133378429C>T	VUS	1 lab	3e7de32762
2:47705459 MSH2 AACTTCT>A	2	47705459	47705467	AACTTCT	A	MSH2	c.2262_2267del	NM_000251.3	NP_000242.1:p.(Ser755_Thr756del)	NC_000002.11:g.47705462_47705467del	VUS	1 lab	3e7f88be4b
X:153735766 FAM3A G>A	X	153735766	153735766	G	A	FAM3A	c.441C>T	NM_021806.4	NP_068578.2:p.(Phe147=)	NC_000023.10:g.153735766G>A	(Likely) benign	1 lab	3e7fbce422
5:90008356 ADGRV1 G>T	5	90008356	90008356	G	T	ADGRV1	c.9184+111G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90008356G>T	(Likely) benign	1 lab	1eab5f6585
12:122247751 SETD1B C>A	12	122247751	122247751	C	A	SETD1B	c.900C>A	NM_001353345.2	NP_001340274.1:p.(Phe300Leu)	NC_000012.11:g.122247751C>A	(Likely) benign	1 lab	3e84492e29
17:78063996 CCDC40 A>C	17	78063996	78063996	A	C	CCDC40	c.2832+313A>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063996A>C	VUS	1 lab	3e84d3eb4e
7:55980381 ZNF713 G>T	7	55980381	55980381	G	T	ZNF713	c.52G>T	NM_182633.3	NP_872439.2:p.(Glu18Ter)	NC_000007.13:g.55980381G>T	VUS	1 lab	3e850602ac
X:3227954 MXRA5 C>G	X	3227954	3227954	C	G	MXRA5	c.8290G>C	NM_015419.4	NP_056234.2:p.(Asp2764His)	NC_000023.10:g.3227954C>G	VUS	1 lab	3e86f02ada
3:132418855 NPHP3 C>G	3	132418855	132418855	C	G	NPHP3	c.1794G>C	NM_153240.5	NP_694972.3:p.(Lys598Asn)	NC_000003.11:g.132418855C>G	VUS	1 lab	3e8851364f
10:61832852 ANK3 C>T	10	61832852	61832852	C	T	ANK3	c.7787G>A	NM_020987.5	NP_066267.2:p.(Arg2596His)	NC_000010.10:g.61832852C>T	VUS	1 lab	3e8944467f
5:140768995 PCDHGB4 AGCGCGCCTTCGACCACGAGCAGCT>A	5	140768995	140769031	AGCGCGCCTTCGACCACGAGCAGCT	A	PCDHGB4	c.1557_1580del	NM_003736.4	NP_003727.1:p.(Asp519_Phe526del)	NC_000005.9:g.140769008_140769031del	(Likely) benign	1 lab	3e8e86fdbd
3:183669719 ABCC5 A>G	3	183669719	183669719	A	G	ABCC5	c.2740T>C	NM_005688.4	NP_005679.2:p.(Tyr914His)	NC_000003.11:g.183669719A>G	VUS	1 lab	3e8fc6c1fb
2:233406076 CHRNG G>A	2	233406076	233406076	G	A	CHRNG	c.351-8G>A	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233406076G>A	(Likely) benign	1 lab	3e906c3979
2:179443910 TTN G>A	2	179443910	179443910	G	A	TTN	c.67847C>T	NM_001267550.2	NP_001254479.2:p.(Ser22616Phe)	NC_000002.11:g.179443910G>A	VUS	1 lab	3e92e10cbe
X:34148805 FAM47A CGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAGCG>C	X	34148805	34148915	CGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAGCG	C	FAM47A	c.1552_1590del	NM_203408.4	NP_981953.2:p.(Arg518_Leu530del)	NC_000023.10:g.34148877_34148915del	(Likely) benign	1 lab	3e92f0e79b
6:31659640 ABHD16A G>C	6	31659640	31659640	G	C	ABHD16A	c.682C>G	NM_021160.3	NP_066983.1:p.(Leu228Val)	NC_000006.11:g.31659640G>C	VUS	1 lab	3e92fcf6f2
12:22017417 ABCC9 A>G	12	22017417	22017417	A	G	ABCC9	c.2199-6T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22017417A>G	VUS	1 lab	3e940a269c
16:3901320 CREBBP A>AG	16	3901320	3901321	A	AG	CREBBP	c.86-311_86-310insC	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3901320_3901321insG	(Likely) benign	1 lab	3e94351566
17:73493912 TMEM94 C>T	17	73493912	73493912	C	T	TMEM94	c.3458C>T	NM_014738.6	NP_055553.3:p.(Thr1153Met)	NC_000017.10:g.73493912C>T	VUS	1 lab	3e94713b3d
2:170145661 LRP2 C>T	2	170145661	170145661	C	T	LRP2	c.923-6G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170145661C>T	(Likely) benign	1 lab	3e94c138ec
9:140063759 LRRC26 A>AAT	9	140063759	140063760	A	AAT	LRRC26	c.636_637insAT	NM_001013653.3	NP_001013675.1:p.(Cys213IlefsTer26)	NC_000009.11:g.140063759_140063760insAT	VUS	1 lab	3e97745170
19:7981798 TGFBR3L ACGCCGCCGC>A	19	7981798	7981820	ACGCCGCCGC	A	TGFBR3L	c.510_518del	NM_001419781.1	NP_001406710.1:p.(Pro171_Pro173del)	NC_000019.9:g.7981812_7981820del	VUS	1 lab	3e99d59782
5:156533942 HAVCR2 G>A	5	156533942	156533942	G	A	HAVCR2	c.90C>T	NM_032782.5	NP_116171.3:p.(Val30=)	NC_000005.9:g.156533942G>A	VUS	1 lab	3e9a864c20
4:2941334 NOP14 C>G	4	2941334	2941334	C	G	NOP14	c.2238G>C	NM_001291978.2	NP_001278907.1:p.(Gln746His)	NC_000004.11:g.2941334C>G	VUS	1 lab	3e9be8aa10
22:40719097 TNRC6B C>T	22	40719097	40719097	C	T	TNRC6B	c.5354C>T	NM_001162501.2	NP_001155973.1:p.(Ala1785Val)	NC_000022.10:g.40719097C>T	VUS	1 lab	3ea25e9aae
2:127815040 BIN1 G>A	2	127815040	127815040	G	A	BIN1	c.1131+9C>T	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127815040G>A	(Likely) benign	1 lab	3ea30ad227
X:15425658 PIR T>A	X	15425658	15425658	T	A	PIR	c.580A>T	NM_001018109.3	NP_001018119.1:p.(Ile194Phe)	NC_000023.10:g.15425658T>A	VUS	1 lab	3ea75d68a6
16:21086881 DNAH3 A>C	16	21086881	21086881	A	C	DNAH3	c.2833T>G	NM_001347886.2	NP_001334815.1:p.(Leu945Val)	NC_000016.9:g.21086881A>C	VUS	1 lab	3ea89d34fd
15:56385754 RFX7 G>A	15	56385754	56385754	G	A	RFX7	c.4172C>T	NM_022841.7	NP_073752.6:p.(Ser1391Leu)	NC_000015.9:g.56385754G>A	(Likely) benign	1 lab	3ea994d743
4:73149028 ADAMTS3 G>A	4	73149028	73149028	G	A	ADAMTS3	c.3443C>T	NM_014243.3	NP_055058.2:p.(Pro1148Leu)	NC_000004.11:g.73149028G>A	(Likely) benign	1 lab	3eac6c9e8d
1:9099725 SLC2A5 C>T	1	9099725	9099725	C	T	SLC2A5	c.886-4G>A	NM_003039.3	NP_003030.1:p.?	NC_000001.10:g.9099725C>T	VUS	1 lab	3ead47793a
17:26919497 SPAG5 T>G	17	26919497	26919497	T	G	SPAG5	c.765A>C	NM_006461.4	NP_006452.3:p.(Ala255=)	NC_000017.10:g.26919497T>G	(Likely) benign	1 lab	3eaec9a8a1
12:49426784 KMT2D G>C	12	49426784	49426784	G	C	KMT2D	c.11704C>G	NM_003482.4	NP_003473.3:p.(Gln3902Glu)	NC_000012.11:g.49426784G>C	VUS	1 lab	3eaecc088d
5:150924227 FAT2 T>G	5	150924227	150924227	T	G	FAT2	c.6461A>C	NM_001447.3	NP_001438.1:p.(Gln2154Pro)	NC_000005.9:g.150924227T>G	VUS	1 lab	3eaf16a751
11:108175501 ATM G>A	11	108175501	108175501	G	A	ATM	c.5596G>A	NM_000051.4	NP_000042.3:p.(Val1866Ile)	NC_000011.9:g.108175501G>A	VUS	1 lab	3eafa60102
12:65632255 LEMD3 G>GTTATTTTTCTCTATTTTTCTTGTTAGGATTTAGGTCCTGAATATGAAGGTATATTTAACAC	12	65632255	65632318	G	GTTATTTTTCTCTATTTTTCTTGTTAGGATTTAGGTCCTGAATATGAAGGTATATTTAACAC	LEMD3	c.1696-24_1732dup	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65632258_65632318dup	(Likely) benign	1 lab	3eb0ab3cbd
2:20147922 WDR35 T>C	2	20147922	20147922	T	C	WDR35	c.1524+3A>G	NM_020779.4	NP_065830.2:p.?	NC_000002.11:g.20147922T>C	(Likely) benign	1 lab	3eb168dd0a
16:1492962 CCDC154 C>T	16	1492962	1492962	C	T	CCDC154	c.470G>A	NM_001143980.3	NP_001137452.1:p.(Arg157Gln)	NC_000016.9:g.1492962C>T	VUS	1 lab	3eb29a78aa
10:124358621 DMBT1 T>C	10	124358621	124358621	T	C	DMBT1	c.3280+8T>C	NM_001377530.1	NP_001364459.1:p.?	NC_000010.10:g.124358621T>C	(Likely) benign	1 lab	3eb449db0c
9:32573022 NDUFB6 G>A	9	32573022	32573022	G	A	NDUFB6	c.37C>T	NM_002493.5	NP_002484.1:p.(Gln13Ter)	NC_000009.11:g.32573022G>A	VUS	1 lab	1e1ad2ee53
2:170350288 BBS5 T>C	2	170350288	170350288	T	C	BBS5	c.560T>C	NM_152384.3	NP_689597.1:p.(Ile187Thr)	NC_000002.11:g.170350288T>C	VUS	1 lab	3eb8aec6cd
15:90210196 PLIN1 C>T	15	90210196	90210196	C	T	PLIN1	c.1180G>A	NM_002666.5	NP_002657.3:p.(Val394Met)	NC_000015.9:g.90210196C>T	VUS	1 lab	3ebce2c24e
14:94722804 PPP4R4 C>G	14	94722804	94722804	C	G	PPP4R4	c.1873C>G	NM_058237.2	NP_478144.1:p.(Leu625Val)	NC_000014.8:g.94722804C>G	VUS	1 lab	3ebfb1ff02
2:70524368 TIMCC C>T	2	70524368	70524368	C	T	TIMCC	c.*53G>A	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524368C>T	VUS	1 lab	3f7032b97a
14:20849189 TEP1 G>A	14	20849189	20849189	G	A	TEP1	c.4663C>T	NM_007110.5	NP_009041.2:p.(Arg1555Cys)	NC_000014.8:g.20849189G>A	(Likely) benign	1 lab	3ec05f505d
12:102164245 GNPTAB T>C	12	102164245	102164245	T	C	GNPTAB	c.1052A>G	NM_024312.5	NP_077288.2:p.(Asn351Ser)	NC_000012.11:g.102164245T>C	VUS	1 lab	3ec201d3b2
11:2608866 KCNQ1 GC>G	11	2608866	2608872	GC	G	KCNQ1	c.1201del	NM_000218.3	NP_000209.2:p.(Arg401GlyfsTer18)	NC_000011.9:g.2608872del	(Likely) pathogenic	1 lab	1eb6cf01d0
16:2150549 PKD1 C>A	16	2150549	2150549	C	A	PKD1	c.9416G>T	NM_001009944.3	NP_001009944.3:p.(Gly3139Val)	NC_000016.9:g.2150549C>A	VUS	1 lab	3ec3a4b296
X:32430169 DMD A>C	X	32430169	32430169	A	C	DMD	c.4072-139T>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32430169A>C	(Likely) benign	1 lab	3ec3d14226
6:87966037 ZNF292 C>T	6	87966037	87966037	C	T	ZNF292	c.2690C>T	NM_015021.3	NP_055836.1:p.(Ser897Leu)	NC_000006.11:g.87966037C>T	(Likely) benign	1 lab	3ec616df25
15:99491942 IGF1R G>A	15	99491942	99491942	G	A	IGF1R	c.3722+5G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99491942G>A	(Likely) pathogenic	1 lab	3ec685cc4d
3:158364074 GFM1 A>G	3	158364074	158364074	A	G	GFM1	c.355A>G	NM_024996.7	NP_079272.4:p.(Ile119Val)	NC_000003.11:g.158364074A>G	VUS	1 lab	1e1caea87b
8:145001254 PLEC G>A	8	145001254	145001254	G	A	PLEC	c.3841-5C>T	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145001254G>A	(Likely) benign	1 lab	3ec74a6c35
19:4511646 PLIN4 A>C	19	4511646	4511646	A	C	PLIN4	c.2326T>G	NM_001367868.2	NP_001354797.1:p.(Leu776Val)	NC_000019.9:g.4511646A>C	(Likely) benign	1 lab	3ec8266ecf
2:150438707 MMADHC C>T	2	150438707	150438707	C	T	MMADHC	c.88G>A	NM_015702.3	NP_056517.1:p.(Ala30Thr)	NC_000002.11:g.150438707C>T	(Likely) benign	1 lab	3ecb44fc73
7:39736314 RALA G>T	7	39736314	39736314	G	T	RALA	c.354G>T	NM_005402.4	NP_005393.2:p.(Glu118Asp)	NC_000007.13:g.39736314G>T	VUS	1 lab	3ecb8451a9
7:21695492 DNAH11 C>T	7	21695492	21695492	C	T	DNAH11	c.4987C>T	NM_001277115.2	NP_001264044.1:p.(Leu1663=)	NC_000007.13:g.21695492C>T	(Likely) benign	1 lab	3ece01c5c7
7:150649608 KCNH2 G>A	7	150649608	150649608	G	A	KCNH2	c.1462C>T	NM_000238.4	NP_000229.1:p.(Arg488Cys)	NC_000007.13:g.150649608G>A	VUS	1 lab	3ece1a1371
19:18899060 COMP G>T	19	18899060	18899060	G	T	COMP	c.936C>A	NM_000095.3	NP_000086.2:p.(Cys312Ter)	NC_000019.9:g.18899060G>T	VUS	1 lab	3ece7e4037
16:1270419 CACNA1H G>A	16	1270419	1270419	G	A	CACNA1H	c.6487G>A	NM_021098.3	NP_066921.2:p.(Gly2163Arg)	NC_000016.9:g.1270419G>A	VUS	1 lab	3ed05cd7d0
1:61872233 NFIA G>C	1	61872233	61872233	G	C	NFIA	c.1255-1G>C	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872233G>C	(Likely) benign	1 lab	3ed0c41459
9:35801637 NPR2 C>T	9	35801637	35801637	C	T	NPR2	c.1437-3C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35801637C>T	(Likely) benign	1 lab	3ed1e88f16
4:6302941 WFS1 C>T	4	6302941	6302941	C	T	WFS1	c.1419C>T	NM_006005.3	NP_005996.2:p.(Ser473=)	NC_000004.11:g.6302941C>T	(Likely) benign	1 lab	3ed4df8c3f
7:103202401 RELN C>A	7	103202401	103202401	C	A	RELN	c.5211-1G>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202401C>A	(Likely) benign	1 lab	3edafa8aaf
15:65369511 KBTBD13 G>A	15	65369511	65369511	G	A	KBTBD13	c.358G>A	NM_001101362.3	NP_001094832.1:p.(Asp120Asn)	NC_000015.9:g.65369511G>A	VUS	1 lab	3eddc3d7e5
6:45514947 RUNX2 A>G	6	45514947	45514947	A	G	RUNX2	c.1471A>G	NM_001024630.4	NP_001019801.3:p.(Asn491Asp)	NC_000006.11:g.45514947A>G	VUS	1 lab	3ede176ab9
11:93456410 CEP295 T>C	11	93456410	93456410	T	C	CEP295	c.6151T>C	NM_033395.2	NP_203753.1:p.(Tyr2051His)	NC_000011.9:g.93456410T>C	(Likely) benign	1 lab	3ee0747827
8:38271749 FGFR1 C>T	8	38271749	38271749	C	T	FGFR1	c.2107G>A	NM_023110.3	NP_075598.2:p.(Gly703Ser)	NC_000008.10:g.38271749C>T	VUS	1 lab	3ee20570bb
9:133237392 HMCN2 C>T	9	133237392	133237392	C	T	HMCN2	c.5951-3C>T	NM_001291815.2	NP_001278744.1:p.?	NC_000009.11:g.133237392C>T	(Likely) benign	1 lab	3ee29d318c
3:186953480 MASP1 C>T	3	186953480	186953480	C	T	MASP1	c.2179G>A	NM_139125.4	NP_624302.1:p.(Glu727Lys)	NC_000003.11:g.186953480C>T	VUS	1 lab	3ee3365ce4
19:50910442 POLD1 G>A	19	50910442	50910442	G	A	POLD1	c.1686+11G>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50910442G>A	VUS	1 lab	3ee41a4b3d
9:2123855 SMARCA2 A>G	9	2123855	2123855	A	G	SMARCA2	c.3899A>G	NM_003070.5	NP_003061.3:p.(Glu1300Gly)	NC_000009.11:g.2123855A>G	VUS	1 lab	3ee48a6816
19:11118597 SMARCA4 C>T	19	11118597	11118597	C	T	SMARCA4	c.2021C>T	NM_003072.5	NP_003063.2:p.(Pro674Leu)	NC_000019.9:g.11118597C>T	VUS	1 lab	3ee6d4593e
19:39989824 DLL3 C>T	19	39989824	39989824	C	T	DLL3	c.70-8C>T	NM_203486.3	NP_982353.1:p.?	NC_000019.9:g.39989824C>T	(Likely) benign	1 lab	3ee7b7a01b
3:145789117 PLOD2 G>A	3	145789117	145789117	G	A	PLOD2	c.1942C>T	NM_182943.3	NP_891988.1:p.(Arg648Trp)	NC_000003.11:g.145789117G>A	VUS	1 lab	3ee94db06f
1:39854283 MACF1 G>C	1	39854283	39854283	G	C	MACF1	c.15769G>C	NM_001394062.1	NP_001380991.1:p.(Val5257Leu)	NC_000001.10:g.39854283G>C	(Likely) benign	1 lab	3ee950df9f
12:7354939 PEX5 C>T	12	7354939	7354939	C	T	PEX5	c.745C>T	NM_001351132.2	NP_001338061.1:p.(Gln249Ter)	NC_000012.11:g.7354939C>T	(Likely) pathogenic	1 lab	3ee9d46360
9:35657981 RMRP T>C	9	35657981	35657981	T	C	RMRP	n.35A>G	NR_003051.3		NC_000009.11:g.35657981T>C	VUS	1 lab	1e1dac12f3
17:48264404 COL1A1 C>T	17	48264404	48264404	C	T	COL1A1	c.3503G>A	NM_000088.4	NP_000079.2:p.(Arg1168His)	NC_000017.10:g.48264404C>T	VUS	1 lab	3eeac7356a
15:74179972 TBC1D21 G>A	15	74179972	74179972	G	A	TBC1D21	c.789G>A	NM_153356.3	NP_699187.1:p.(Thr263=)	NC_000015.9:g.74179972G>A	VUS	1 lab	3eeca6badc
7:92734000 SAMD9 C>G	7	92734000	92734000	C	G	SAMD9	c.1411G>C	NM_017654.4	NP_060124.2:p.(Glu471Gln)	NC_000007.13:g.92734000C>G	(Likely) benign	1 lab	3eece7dd9c
16:2153396 PKD1 G>A	16	2153396	2153396	G	A	PKD1	c.8662C>T	NM_001009944.3	NP_001009944.3:p.(Arg2888Cys)	NC_000016.9:g.2153396G>A	(Likely) benign	1 lab	3eeecdd62f
X:109922569 CHRDL1 G>A	X	109922569	109922569	G	A	CHRDL1	c.1241C>T	NM_001143981.2	NP_001137453.1:p.(Thr414Ile)	NC_000023.10:g.109922569G>A	(Likely) benign	1 lab	3eeeddd514
17:61570891 ACE C>A	17	61570891	61570891	C	A	ACE	c.3007C>A	NM_000789.4	NP_000780.1:p.(Pro1003Thr)	NC_000017.10:g.61570891C>A	VUS	1 lab	3eef008f85
1:43805240 MPL A>G	1	43805240	43805240	A	G	MPL	c.690A>G	NM_005373.3	NP_005364.1:p.(Glu230=)	NC_000001.10:g.43805240A>G	(Likely) benign	1 lab	3eefcd0910
7:26400650 SNX10 A>G	7	26400650	26400650	A	G	SNX10	c.80A>G	NM_013322.3	NP_037454.2:p.(His27Arg)	NC_000007.13:g.26400650A>G	VUS	1 lab	3ef017df60
3:142226912 ATR C>T	3	142226912	142226912	C	T	ATR	c.4892G>A	NM_001184.4	NP_001175.2:p.(Arg1631His)	NC_000003.11:g.142226912C>T	(Likely) benign	1 lab	3ef02c28c7
3:9781356 BRPF1 C>G	3	9781356	9781356	C	G	BRPF1	c.1273C>G	NM_001003694.2	NP_001003694.1:p.(Pro425Ala)	NC_000003.11:g.9781356C>G	(Likely) pathogenic	1 lab	3ef1409a73
1:226041377 TMEM63A G>A	1	226041377	226041377	G	A	TMEM63A	c.1750C>T	NM_014698.3	NP_055513.2:p.(Arg584Cys)	NC_000001.10:g.226041377G>A	(Likely) benign	1 lab	3ef15fb81d
15:43009197 STARD9 C>T	15	43009197	43009197	C	T	STARD9	c.13445C>T	NM_020759.3	NP_065810.2:p.(Ser4482Phe)	NC_000015.9:g.43009197C>T	(Likely) benign	1 lab	3ef3460316
7:6045625 PMS2 TCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA>T	7	6045625	6045674	TCCGATCAATAGGTTTGATGGCCTTAGCAGGTTCTGTACTAGAGAAATCA	T	PMS2	c.24-12_60del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6045626_6045674del	(Likely) pathogenic	1 lab	3ef91bb062
20:49509175 ADNP C>T	20	49509175	49509175	C	T	ADNP	c.2076G>A	NM_001282531.3	NP_001269460.1:p.(Lys692=)	NC_000020.10:g.49509175C>T	(Likely) benign	1 lab	3ef93983a4
6:152576722 SYNE1 C>G	6	152576722	152576722	C	G	SYNE1	c.19260+4G>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152576722C>G	(Likely) benign	1 lab	3efb092ff3
2:207171358 ZDBF2 C>A	2	207171358	207171358	C	A	ZDBF2	c.2106C>A	NM_020923.3	NP_065974.1:p.(Ser702Arg)	NC_000002.11:g.207171358C>A	(Likely) benign	1 lab	3efbad2960
19:51215379 SHANK1 C>T	19	51215379	51215379	C	T	SHANK1	c.793-8G>A	NM_016148.5	NP_057232.2:p.?	NC_000019.9:g.51215379C>T	(Likely) benign	1 lab	3efcf3333f
21:33697621 URB1 G>A	21	33697621	33697621	G	A	URB1	c.5039C>T	NM_014825.3	NP_055640.2:p.(Pro1680Leu)	NC_000021.8:g.33697621G>A	VUS	1 lab	3efcf891f5
16:72829025 ZFHX3 T>C	16	72829025	72829025	T	C	ZFHX3	c.7556A>G	NM_006885.4	NP_008816.3:p.(Gln2519Arg)	NC_000016.9:g.72829025T>C	VUS	1 lab	3efda2a2ce
1:147091628 BCL9 C>T	1	147091628	147091628	C	T	BCL9	c.1667C>T	NM_004326.4	NP_004317.2:p.(Pro556Leu)	NC_000001.10:g.147091628C>T	VUS	1 lab	3efdb9d1bc
4:5811242 EVC C>T	4	5811242	5811242	C	T	EVC	c.2689-3C>T	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5811242C>T	VUS	1 lab	3eff5b2519
1:40557070 PPT1 T>A	1	40557070	40557070	T	A	PPT1	c.364A>T	NM_000310.4	NP_000301.1:p.(Arg122Trp)	NC_000001.10:g.40557070T>A	(Likely) pathogenic	1 lab	1e2566272c
9:39176043 CNTNAP3 C>G	9	39176043	39176043	C	G	CNTNAP3	c.974G>C	NM_033655.5	NP_387504.2:p.(Arg325Thr)	NC_000009.11:g.39176043C>G	(Likely) benign	1 lab	3f00fd1de7
1:24406516 MYOM3 G>A	1	24406516	24406516	G	A	MYOM3	c.2576C>T	NM_152372.4	NP_689585.3:p.(Thr859Ile)	NC_000001.10:g.24406516G>A	VUS	1 lab	3f0115c444
6:83728740 UBE3D C>T	6	83728740	83728740	C	T	UBE3D	c.962G>A	NM_198920.3	NP_944602.1:p.(Ser321Asn)	NC_000006.11:g.83728740C>T	VUS	1 lab	3f0284def0
14:81609993 TSHR C>T	14	81609993	81609993	C	T	TSHR	c.1591C>T	NM_000369.5	NP_000360.2:p.(Arg531Trp)	NC_000014.8:g.81609993C>T	VUS	1 lab	3f04564c70
9:69423983 MISSING T>C	9	69423983	69423983	T	C	MISSING				NC_000009.11:g.69423983T>C	(Likely) benign	1 lab	3f065e82a0
14:74972748 LTBP2 C>T	14	74972748	74972748	C	T	LTBP2	c.4177+3G>A	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74972748C>T	(Likely) benign	1 lab	3f06cadd99
3:71019919 FOXP1 C>T	3	71019919	71019919	C	T	FOXP1	c.1690G>A	NM_001349338.3	NP_001336267.1:p.(Ala564Thr)	NC_000003.11:g.71019919C>T	(Likely) benign	1 lab	3f07622fab
1:74648251 LRRIQ3 A>G	1	74648251	74648251	A	G	LRRIQ3	c.544T>C	NM_001105659.2	NP_001099129.1:p.(Phe182Leu)	NC_000001.10:g.74648251A>G	VUS	1 lab	3f07a81f7b
2:220435919 OBSL1 C>CG	2	220435919	220435925	C	CG	OBSL1	c.35dup	NM_015311.3	NP_056126.1:p.(Cys13ValfsTer241)	NC_000002.11:g.220435925dup	(Likely) pathogenic	1 lab	3f08798263
X:7811987 VCX T>C	X	7811987	7811987	T	C	VCX	c.551T>C	NM_001393662.1	NP_001380591.1:p.(Leu184Pro)	NC_000023.10:g.7811987T>C	(Likely) benign	1 lab	3f087a74f9
5:140595835 PCDHB13 T>G	5	140595835	140595835	T	G	PCDHB13	c.2140T>G	NM_018933.4	NP_061756.1:p.(Cys714Gly)	NC_000005.9:g.140595835T>G	VUS	1 lab	3f0a420318
19:2430941 LMNB2 T>C	19	2430941	2430941	T	C	LMNB2	c.1831A>G	NM_032737.4	NP_116126.3:p.(Arg611Gly)	NC_000019.9:g.2430941T>C	VUS	1 lab	1e264bc0a9
21:47831724 PCNT G>A	21	47831724	47831724	G	A	PCNT	c.5737G>A	NM_006031.6	NP_006022.3:p.(Gly1913Arg)	NC_000021.8:g.47831724G>A	VUS	1 lab	3f0af8eaeb
9:5770168 RIC1 G>A	9	5770168	5770168	G	A	RIC1	c.3506G>A	NM_020829.4	NP_065880.2:p.(Arg1169Gln)	NC_000009.11:g.5770168G>A	VUS	1 lab	3f0b49d215
16:88870419 CDT1 C>G	16	88870419	88870419	C	G	CDT1	c.180C>G	NM_030928.4	NP_112190.2:p.(Asp60Glu)	NC_000016.9:g.88870419C>G	(Likely) benign	1 lab	3f0b4f25ea
20:32883301 AHCY G>A	20	32883301	32883301	G	A	AHCY	c.35C>T	NM_001161766.2	NP_001155238.1:p.(Ser12Leu)	NC_000020.10:g.32883301G>A	(Likely) benign	1 lab	1e2821bda0
12:49426606 KMT2D T>G	12	49426606	49426606	T	G	KMT2D	c.11882A>C	NM_003482.4	NP_003473.3:p.(Gln3961Pro)	NC_000012.11:g.49426606T>G	(Likely) benign	1 lab	3f0c8c49cf
2:179413213 TTN C>A	2	179413213	179413213	C	A	TTN	c.93140G>T	NM_001267550.1	NP_001254479.1:p.(Arg31047Leu)	NC_000002.11:g.179413213C>A	VUS	1 lab	1ebbdaf21e
16:1270110 CACNA1H C>T	16	1270110	1270110	C	T	CACNA1H	c.6178C>T	NM_021098.3	NP_066921.2:p.(Arg2060Cys)	NC_000016.9:g.1270110C>T	VUS	1 lab	3f0d058ae8
19:36224183 KMT2B G>C	19	36224183	36224183	G	C	KMT2B	c.6733G>C	NM_014727.3	NP_055542.1:p.(Val2245Leu)	NC_000019.9:g.36224183G>C	VUS	1 lab	3f0f78790b
1:10725587 CASZ1 C>T	1	10725587	10725587	C	T	CASZ1	c.58G>A	NM_001079843.3	NP_001073312.1:p.(Ala20Thr)	NC_000001.10:g.10725587C>T	(Likely) benign	1 lab	3f0ff0761e
4:13545592 NKX3-2 C>G	4	13545592	13545592	C	G	NKX3-2	c.447G>C	NM_001189.4	NP_001180.1:p.(Glu149Asp)	NC_000004.11:g.13545592C>G	(Likely) benign	1 lab	3f11b3cd3f
2:216288257 FN1 G>T	2	216288257	216288257	G	T	FN1	c.1217-8C>A	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216288257G>T	VUS	1 lab	3f11bb3512
22:50315341 CRELD2 C>T	22	50315341	50315341	C	T	CRELD2	c.524C>T	NM_024324.5	NP_077300.3:p.(Pro175Leu)	NC_000022.10:g.50315341C>T	(Likely) benign	1 lab	3f125367d2
17:465845 VPS53 C>A	17	465845	465845	C	A	VPS53	c.1454G>T	NM_001128159.3	NP_001121631.1:p.(Cys485Phe)	NC_000017.10:g.465845C>A	VUS	1 lab	3f129a067a
17:75484307 SEPTIN9 C>T	17	75484307	75484307	C	T	SEPTIN9	c.989-15C>T	NM_006640.4	NP_006631.2:p.?	NC_000017.10:g.75484307C>T	(Likely) benign	1 lab	1ebee47f01
17:56271094 EPX G>C	17	56271094	56271094	G	C	EPX	c.366G>C	NM_000502.6	NP_000493.1:p.(Gln122His)	NC_000017.10:g.56271094G>C	(Likely) benign	1 lab	1e28ee4ba4
19:54627207 PRPF31 C>T	19	54627207	54627207	C	T	PRPF31	c.607C>T	NM_015629.4	NP_056444.3:p.(Arg203Cys)	NC_000019.9:g.54627207C>T	VUS	1 lab	3f15c4e7d9
2:166003415 SCN3A C>T	2	166003415	166003415	C	T	SCN3A	c.1505G>A	NM_006922.4	NP_008853.3:p.(Arg502Gln)	NC_000002.11:g.166003415C>T	VUS	1 lab	1e299018cd
2:69420546 ANTXR1 C>T	2	69420546	69420546	C	T	ANTXR1	c.1433C>T	NM_032208.3	NP_115584.1:p.(Thr478Met)	NC_000002.11:g.69420546C>T	VUS	1 lab	3f173708cf
13:32937348 BRCA2 C>G	13	32937348	32937348	C	G	BRCA2	c.8009C>G	NM_000059.4	NP_000050.3:p.(Ser2670Trp)	NC_000013.10:g.32937348C>G	(Likely) pathogenic	1 lab	3f17641f2d
6:135732653 AHI1 G>A	6	135732653	135732653	G	A	AHI1	c.2794C>T	NM_001134831.2	NP_001128303.1:p.(Arg932Cys)	NC_000006.11:g.135732653G>A	(Likely) benign	1 lab	1e2a10f857
6:35209425 SCUBE3 G>A	6	35209425	35209425	G	A	SCUBE3	c.1301G>A	NM_152753.4	NP_689966.2:p.(Arg434Gln)	NC_000006.11:g.35209425G>A	(Likely) benign	1 lab	3f19967fcb
1:11863522 MTHFR G>A	1	11863522	11863522	G	A	MTHFR	c.-13-336C>T	NM_005957.5	NP_005948.3:p.?	NC_000001.10:g.11863522G>A	VUS	1 lab	3f1bd33be1
4:1803444 FGFR3 G>A	4	1803444	1803444	G	A	FGFR3	c.713G>A	NM_000142.5	NP_000133.1:p.(Arg238Gln)	NC_000004.11:g.1803444G>A	(Likely) benign	1 lab	3f1d7f5279
11:6412770 SMPD1 T>C	11	6412770	6412770	T	C	SMPD1	c.475T>C	NM_000543.5	NP_000534.3:p.(Cys159Arg)	NC_000011.9:g.6412770T>C	(Likely) pathogenic	1 lab	3f1e6bd883
2:240048181 HDAC4 A>G	2	240048181	240048181	A	G	HDAC4	c.1489T>C	NM_006037.4	NP_006028.2:p.(Phe497Leu)	NC_000002.11:g.240048181A>G	VUS	1 lab	1e2d8e3f4d
2:179431026 TTN T>G	2	179431026	179431026	T	G	TTN	c.79833A>C	NM_001267550.2	NP_001254479.2:p.(Arg26611Ser)	NC_000002.11:g.179431026T>G	VUS	1 lab	3f20157157
1:156841535 NTRK1 G>T	1	156841535	156841535	G	T	NTRK1	c.838G>T	NM_002529.4	NP_002520.2:p.(Val280Phe)	NC_000001.10:g.156841535G>T	(Likely) benign	1 lab	3f2162d073
4:87653856 PTPN13 G>T	4	87653856	87653856	G	T	PTPN13	c.1795G>T	NM_080683.3	NP_542414.1:p.(Asp599Tyr)	NC_000004.11:g.87653856G>T	VUS	1 lab	3f235279f2
2:179460362 TTN C>T	2	179460362	179460362	C	T	TTN	c.57719G>A	NM_001267550.2	NP_001254479.2:p.(Arg19240Gln)	NC_000002.11:g.179460362C>T	VUS	1 lab	3f23547c31
1:229568140 ACTA1 C>G	1	229568140	229568140	C	G	ACTA1	c.493G>C	NM_001100.4	NP_001091.1:p.(Val165Leu)	NC_000001.10:g.229568140C>G	(Likely) pathogenic	1 lab	3f23d1d06a
7:21805203 DNAH11 T>C	7	21805203	21805203	T	C	DNAH11	c.9098T>C	NM_001277115.2	NP_001264044.1:p.(Ile3033Thr)	NC_000007.13:g.21805203T>C	(Likely) benign	1 lab	3f261850a8
1:153784562 GATAD2B G>A	1	153784562	153784562	G	A	GATAD2B	c.1466C>T	NM_020699.4	NP_065750.1:p.(Thr489Met)	NC_000001.10:g.153784562G>A	VUS	1 lab	3f281818ec
2:161174740 RBMS1 TA>T	2	161174740	161174763	TA	T	RBMS1	c.252-3del	NM_016836.4	NP_058520.1:p.?	NC_000002.11:g.161174763del	(Likely) benign	1 lab	3f2862f23b
12:48391474 COL2A1 C>T	12	48391474	48391474	C	T	COL2A1	c.446G>A	NM_001844.5	NP_001835.3:p.(Arg149His)	NC_000012.11:g.48391474C>T	VUS	1 lab	3f2954514a
3:148880043 HPS3 G>A	3	148880043	148880043	G	A	HPS3	c.2215G>A	NM_032383.5	NP_115759.2:p.(Gly739Arg)	NC_000003.11:g.148880043G>A	(Likely) benign	1 lab	3f299d95df
5:13867920 DNAH5 A>C	5	13867920	13867920	A	C	DNAH5	c.4016T>G	NM_001369.3	NP_001360.1:p.(Leu1339Arg)	NC_000005.9:g.13867920A>C	VUS	1 lab	3f2dd00892
10:21124452 NEBL A>G	10	21124452	21124452	A	G	NEBL	c.1439T>C	NM_006393.2	NP_006384.1:p.(Ile480Thr)	NC_000010.10:g.21124452A>G	(Likely) benign	1 lab	1ebf3a4f58
7:158719116 DYNC2I1 A>G	7	158719116	158719116	A	G	DYNC2I1	c.2395A>G	NM_018051.5	NP_060521.4:p.(Ile799Val)	NC_000007.13:g.158719116A>G	(Likely) benign	1 lab	3f2e96822e
8:94777642 TMEM67 G>A	8	94777642	94777642	G	A	TMEM67	c.515G>A	NM_153704.6	NP_714915.3:p.(Arg172Gln)	NC_000008.10:g.94777642G>A	(Likely) pathogenic	1 lab	3f2f90a78f
9:131286037 GLE1 C>T	9	131286037	131286037	C	T	GLE1	c.809C>T	NM_001003722.2	NP_001003722.1:p.(Ala270Val)	NC_000009.11:g.131286037C>T	(Likely) benign	1 lab	3f3137d39c
18:31323231 ASXL3 C>A	18	31323231	31323231	C	A	ASXL3	c.3419C>A	NM_030632.3	NP_085135.1:p.(Pro1140Gln)	NC_000018.9:g.31323231C>A	(Likely) benign	1 lab	3f33fe9b1f
11:111709078 ALG9 T>C	11	111709078	111709078	T	C	ALG9	c.1218A>G	NM_024740.2	NP_079016.2:p.(Gln406=)	NC_000011.9:g.111709078T>C	VUS	1 lab	3f34d20e30
16:2150569 PKD1 T>C	16	2150569	2150569	T	C	PKD1	c.9398-2A>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2150569T>C	(Likely) pathogenic	1 lab	3f37b472a8
14:20845436 TEP1 T>A	14	20845436	20845436	T	A	TEP1	c.6088+3A>T	NM_007110.5	NP_009041.2:p.?	NC_000014.8:g.20845436T>A	VUS	1 lab	3f38936d4d
2:220435264 OBSL1 CG>C	2	220435264	220435270	CG	C	OBSL1	c.690del	NM_015311.3	NP_056126.1:p.(Glu231ArgfsTer27)	NC_000002.11:g.220435270del	VUS	1 lab	3f3b1b6fe3
5:127624224 FBN2 A>G	5	127624224	127624224	A	G	FBN2	c.6663T>C	NM_001999.4	NP_001990.2:p.(Asn2221=)	NC_000005.9:g.127624224A>G	(Likely) benign	1 lab	3f3bded10a
21:44485720 CBS A>G	21	44485720	44485720	A	G	CBS	c.531+6T>C	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44485720A>G	(Likely) benign	1 lab	3f3cbb5612
17:56770018 RAD51C C>T	17	56770018	56770018	C	T	RAD51C	c.14C>T	NM_058216.3	NP_478123.1:p.(Thr5Met)	NC_000017.10:g.56770018C>T	VUS	1 lab	3f3edb8ee4
2:152370911 NEB A>G	2	152370911	152370911	A	G	NEB	c.23048T>C	NM_001164508.2	NP_001157980.2:p.(Ile7683Thr)	NC_000002.11:g.152370911A>G	VUS	1 lab	3f407373c2
5:54529089 CCNO TGGGCCGGGCC>T	5	54529089	54529103	TGGGCCGGGCC	T	CCNO	c.253_262del	NM_021147.5	NP_066970.3:p.(Gly85SerfsTer6)	NC_000005.9:g.54529094_54529103del	(Likely) pathogenic	1 lab	3f421c9ce4
2:73677678 ALMS1 G>A	2	73677678	73677678	G	A	ALMS1	c.4027G>A	NM_015120.4	NP_055935.4:p.(Val1343Ile)	NC_000002.11:g.73677678G>A	VUS	1 lab	1e32164804
21:47861005 PCNT C>T	21	47861005	47861005	C	T	PCNT	c.9623+8C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47861005C>T	(Likely) benign	1 lab	3f43a1745a
10:79552206 DLG5 G>A	10	79552206	79552206	G	A	DLG5	c.5752C>T	NM_004747.4	NP_004738.3:p.(Pro1918Ser)	NC_000010.10:g.79552206G>A	VUS	1 lab	3f4500178e
11:58920492 FAM111A C>G	11	58920492	58920492	C	G	FAM111A	c.1351C>G	NM_001312909.2	NP_001299838.1:p.(Gln451Glu)	NC_000011.9:g.58920492C>G	(Likely) benign	1 lab	3f4543edfa
4:5785366 EVC C>G	4	5785366	5785366	C	G	EVC	c.1651C>G	NM_153717.3	NP_714928.1:p.(Pro551Ala)	NC_000004.11:g.5785366C>G	(Likely) benign	1 lab	3f45f98e0b
9:4118361 GLIS3 G>C	9	4118361	4118361	G	C	GLIS3	c.1117C>G	NM_001042413.2	NP_001035878.1:p.(Leu373Val)	NC_000009.11:g.4118361G>C	(Likely) benign	1 lab	3f46d5a70d
14:92403282 FBLN5 G>A	14	92403282	92403282	G	A	FBLN5	c.379+9C>T	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92403282G>A	(Likely) benign	1 lab	3f48dd497c
1:65305429 JAK1 T>C	1	65305429	65305429	T	C	JAK1	c.2699A>G	NM_002227.4	NP_002218.2:p.(Asn900Ser)	NC_000001.10:g.65305429T>C	VUS	1 lab	3f4904cf2d
12:116418547 MED13L A>C	12	116418547	116418547	A	C	MED13L	c.5364+8T>G	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116418547A>C	VUS	1 lab	3f4ac08463
10:71906112 TYSND1 G>C	10	71906112	71906112	G	C	TYSND1	c.231C>G	NM_173555.4	NP_775826.2:p.(Cys77Trp)	NC_000010.10:g.71906112G>C	(Likely) benign	1 lab	3f4b3f4684
12:69048143 RAP1B GTT>G	12	69048143	69048145	GTT	G	RAP1B	c.324+112_324+113del	NM_001010942.3	NP_001010942.1:p.?	NC_000012.11:g.69048144_69048145del	(Likely) benign	1 lab	3f4f559c62
17:7793056 CHD3 G>A	17	7793056	7793056	G	A	CHD3	c.175G>A	NM_001005273.3	NP_001005273.1:p.(Glu59Lys)	NC_000017.10:g.7793056G>A	VUS	1 lab	3f4ff5bd9a
18:21118508 NPC1 T>C	18	21118508	21118508	T	C	NPC1	c.3039A>G	NM_000271.5	NP_000262.2:p.(Lys1013=)	NC_000018.9:g.21118508T>C	(Likely) benign	1 lab	3f502c8d65
16:1630757 IFT140 T>C	16	1630757	1630757	T	C	IFT140	c.1524+3A>G	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1630757T>C	(Likely) benign	1 lab	40011172f4
3:69169050 LMOD3 ATCT>A	3	69169050	69169064	ATCT	A	LMOD3	c.453_455del	NM_198271.5	NP_938012.2:p.(Glu151del)	NC_000003.11:g.69169062_69169064del	VUS	1 lab	3f51072177
18:10702028 PIEZO2 T>A	18	10702028	10702028	T	A	PIEZO2	c.6400A>T	NM_001378183.1	NP_001365112.1:p.(Ile2134Phe)	NC_000018.9:g.10702028T>A	VUS	1 lab	3f515828f5
X:3238546 MXRA5 T>C	X	3238546	3238546	T	C	MXRA5	c.5180A>G	NM_015419.4	NP_056234.2:p.(Asn1727Ser)	NC_000023.10:g.3238546T>C	VUS	1 lab	3f5231128b
15:52606328 MYO5A T>C	15	52606328	52606328	T	C	MYO5A	c.5482A>G	NM_001382347.1	NP_001369276.1:p.(Thr1828Ala)	NC_000015.9:g.52606328T>C	VUS	1 lab	3f548f849c
2:176957848 HOXD13 C>G	2	176957848	176957848	C	G	HOXD13	c.230C>G	NM_000523.4	NP_000514.2:p.(Pro77Arg)	NC_000002.11:g.176957848C>G	VUS	1 lab	3f557274b5
2:71360431 MPHOSPH10 G>A	2	71360431	71360431	G	A	MPHOSPH10	c.493G>A	NM_005791.3	NP_005782.1:p.(Val165Ile)	NC_000002.11:g.71360431G>A	(Likely) benign	1 lab	3f572490cd
1:27121151 PIGV G>C	1	27121151	27121151	G	C	PIGV	c.626G>C	NM_017837.4	NP_060307.2:p.(Ser209Thr)	NC_000001.10:g.27121151G>C	(Likely) benign	1 lab	3f5ae91253
9:35090063 PIGO C>T	9	35090063	35090063	C	T	PIGO	c.3069G>A	NM_032634.4	NP_116023.2:p.(Gln1023=)	NC_000009.11:g.35090063C>T	VUS	1 lab	3f5aeb7bff
1:245026967 HNRNPU T>C	1	245026967	245026967	T	C	HNRNPU	c.643A>G	NM_031844.3	NP_114032.2:p.(Lys215Glu)	NC_000001.10:g.245026967T>C	(Likely) benign	1 lab	3f5b1e6dd3
15:34099758 RYR3 C>T	15	34099758	34099758	C	T	RYR3	c.10014C>T	NM_001036.6	NP_001027.3:p.(Ala3338=)	NC_000015.9:g.34099758C>T	(Likely) benign	1 lab	3f5b632dde
11:117310107 DSCAML1 C>T	11	117310107	117310107	C	T	DSCAML1	c.4019G>A	NM_020693.4	NP_065744.3:p.(Arg1340Gln)	NC_000011.9:g.117310107C>T	(Likely) benign	1 lab	3f5b94d243
8:145738445 RECQL4 T>C	8	145738445	145738445	T	C	RECQL4	c.2540A>G	NM_004260.4	NP_004251.4:p.(Gln847Arg)	NC_000008.10:g.145738445T>C	VUS	1 lab	3f5c0c5a09
11:64693374 PPP2R5B G>C	11	64693374	64693374	G	C	PPP2R5B	c.168G>C	NM_006244.4	NP_006235.1:p.(Gln56His)	NC_000011.9:g.64693374G>C	VUS	1 lab	3f5edd0cb2
8:94809607 TMEM67 C>T	8	94809607	94809607	C	T	TMEM67	c.2009C>T	NM_153704.6	NP_714915.3:p.(Thr670Ile)	NC_000008.10:g.94809607C>T	VUS	1 lab	3f5f9d1b30
21:45845568 TRPM2 C>A	21	45845568	45845568	C	A	TRPM2	c.3653C>A	NM_003307.4	NP_003298.2:p.(Ala1218Glu)	NC_000021.8:g.45845568C>A	VUS	1 lab	3f5fedebc3
15:31295059 TRPM1 G>A	15	31295059	31295059	G	A	TRPM1	c.3844C>T	NM_001252024.2	NP_001238953.1:p.(Arg1282Trp)	NC_000015.9:g.31295059G>A	VUS	1 lab	3f61124c99
19:6495415 TUBB4A C>T	19	6495415	6495415	C	T	TUBB4A	c.1095G>A	NM_006087.4	NP_006078.2:p.(Ala365=)	NC_000019.9:g.6495415C>T	(Likely) benign	1 lab	3f63d3d208
8:195338 ZNF596 G>A	8	195338	195338	G	A	ZNF596	c.491G>A	NM_001042416.3	NP_001035881.1:p.(Cys164Tyr)	NC_000008.10:g.195338G>A	(Likely) benign	1 lab	3f64805fc5
4:85612894 WDFY3 T>C	4	85612894	85612894	T	C	WDFY3	c.9094A>G	NM_014991.6	NP_055806.2:p.(Ile3032Val)	NC_000004.11:g.85612894T>C	(Likely) benign	1 lab	3f649c1e82
14:20528397 OR4L1 ATC>A	14	20528397	20528404	ATC	A	OR4L1	c.200_201del	NM_001004717.1	NP_001004717.1:p.(Ser67PhefsTer21)	NC_000014.8:g.20528403_20528404del	VUS	1 lab	3f670ecae6
14:105412208 AHNAK2 C>G	14	105412208	105412208	C	G	AHNAK2	c.9580G>C	NM_138420.4	NP_612429.2:p.(Glu3194Gln)	NC_000014.8:g.105412208C>G	(Likely) benign	1 lab	3f671285bf
16:1417096 UNKL G>A	16	1417096	1417096	G	A	UNKL	c.2043C>T	NM_001372107.1	NP_001359036.1:p.(Asp681=)	NC_000016.9:g.1417096G>A	VUS	1 lab	3f676589b6
1:35559621 ZMYM1 C>T	1	35559621	35559621	C	T	ZMYM1	c.33C>T	NM_024772.5	NP_079048.3:p.(Asp11=)	NC_000001.10:g.35559621C>T	VUS	1 lab	3f69d692a3
X:102564698 BEX2 T>C	X	102564698	102564698	T	C	BEX2	c.207A>G	NM_032621.4	NP_116010.1:p.(Ile69Met)	NC_000023.10:g.102564698T>C	(Likely) benign	1 lab	3f6ae59ab2
9:84608348 SPATA31D1 C>T	9	84608348	84608348	C	T	SPATA31D1	c.2963C>T	NM_001001670.3	NP_001001670.1:p.(Pro988Leu)	NC_000009.11:g.84608348C>T	(Likely) benign	1 lab	3f6b0a8227
21:33689071 URB1 T>G	21	33689071	33689071	T	G	URB1	c.6340A>C	NM_014825.3	NP_055640.2:p.(Ser2114Arg)	NC_000021.8:g.33689071T>G	(Likely) benign	1 lab	3f6b39c541
16:3294551 MEFV G>C	16	3294551	3294551	G	C	MEFV	c.1648C>G	NM_000243.2	NP_000234.1:p.(Pro550Ala)	NC_000016.9:g.3294551G>C	VUS	1 lab	1ec1df1635
19:11312556 DOCK6 C>G	19	11312556	11312556	C	G	DOCK6	c.5688+9G>C	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11312556C>G	(Likely) benign	1 lab	3f6ce100db
13:45147857 TSC22D1 G>A	13	45147857	45147857	G	A	TSC22D1	c.2354C>T	NM_183422.4	NP_904358.2:p.(Pro785Leu)	NC_000013.10:g.45147857G>A	VUS	1 lab	3f6d3bc9eb
1:204506603 MDM4 T>G	1	204506603	204506603	T	G	MDM4	c.389T>G	NM_002393.5	NP_002384.2:p.(Ile130Ser)	NC_000001.10:g.204506603T>G	VUS	1 lab	3f6daecd27
14:75506684 MLH3 C>T	14	75506684	75506684	C	T	MLH3	c.3500G>A	NM_001040108.2	NP_001035197.1:p.(Ser1167Asn)	NC_000014.8:g.75506684C>T	VUS	1 lab	3f6e1fc0db
9:32630385 TAF1L T>G	9	32630385	32630385	T	G	TAF1L	c.5193A>C	NM_153809.2	NP_722516.1:p.(Lys1731Asn)	NC_000009.11:g.32630385T>G	(Likely) benign	1 lab	3f6e49bf23
12:49433318 KMT2D G>C	12	49433318	49433318	G	C	KMT2D	c.8129C>G	NM_003482.4	NP_003473.3:p.(Ala2710Gly)	NC_000012.11:g.49433318G>C	VUS	1 lab	1e36c42368
2:97864395 ANKRD36 G>C	2	97864395	97864395	G	C	ANKRD36	c.2755G>C	NM_001354587.1	NP_001341516.1:p.(Val919Leu)	NC_000002.11:g.97864395G>C	VUS	1 lab	3f726fafe4
2:3687868 COLEC11 G>T	2	3687868	3687868	G	T	COLEC11	c.275G>T	NM_024027.5	NP_076932.1:p.(Gly92Val)	NC_000002.11:g.3687868G>T	VUS	1 lab	3f74405bf5
8:144889091 SCRIB C>T	8	144889091	144889091	C	T	SCRIB	c.2268+3G>A	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144889091C>T	(Likely) benign	1 lab	3f74a4c8a9
22:41253188 XPNPEP3 G>T	22	41253188	41253188	G	T	XPNPEP3	c.3G>T	NM_022098.4	NP_071381.1:p.(Met1?)	NC_000022.10:g.41253188G>T	VUS	1 lab	3f74a51820
17:78058778 CCDC40 C>T	17	78058778	78058778	C	T	CCDC40	c.2226C>T	NM_017950.4	NP_060420.2:p.(Ser742=)	NC_000017.10:g.78058778C>T	VUS	1 lab	3f76223e9a
11:65318635 LTBP3 G>T	11	65318635	65318635	G	T	LTBP3	c.1682C>A	NM_001130144.3	NP_001123616.1:p.(Ser561Tyr)	NC_000011.9:g.65318635G>T	VUS	1 lab	3f7759a77d
3:145806486 PLOD2 C>T	3	145806486	145806486	C	T	PLOD2	c.892G>A	NM_182943.3	NP_891988.1:p.(Val298Ile)	NC_000003.11:g.145806486C>T	VUS	1 lab	3f7827a7f4
9:133281466 HMCN2 G>A	9	133281466	133281466	G	A	HMCN2	c.12464G>A	NM_001291815.2	NP_001278744.1:p.(Arg4155His)	NC_000009.11:g.133281466G>A	(Likely) benign	1 lab	3f79c2bf58
16:87637893 JPH3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	16	87637893	87637935	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	JPH3	c.382+772_382+801dup	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87637906_87637935dup	(Likely) benign	1 lab	3f7b59c9bd
16:10234955 GRIN2A G>T	16	10234955	10234955	G	T	GRIN2A	c.414+38900C>A	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.10234955G>T	(Likely) benign	1 lab	3f7bbec357
9:131115718 SLC27A4 C>T	9	131115718	131115718	C	T	SLC27A4	c.1222C>T	NM_005094.4	NP_005085.2:p.(Arg408Cys)	NC_000009.11:g.131115718C>T	VUS	1 lab	3f946e100f
12:21051435 SLCO1B3 G>A	12	21051435	21051435	G	A	SLCO1B3	c.1747+1G>A	NM_019844.4	NP_062818.1:p.?	NC_000012.11:g.21051435G>A	(Likely) pathogenic	1 lab	1e393254a9
1:27023475 ARID1A C>T	1	27023475	27023475	C	T	ARID1A	c.581C>T	NM_006015.6	NP_006006.3:p.(Pro194Leu)	NC_000001.10:g.27023475C>T	(Likely) benign	1 lab	3f80a489cf
4:56823418 CEP135 C>T	4	56823418	56823418	C	T	CEP135	c.502C>T	NM_025009.5	NP_079285.2:p.(Arg168Cys)	NC_000004.11:g.56823418C>T	VUS	1 lab	3f8166b100
7:98609161 TRRAP G>A	7	98609161	98609161	G	A	TRRAP	c.11337+3G>A	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98609161G>A	(Likely) benign	1 lab	3f842546b9
16:2816108 SRRM2 C>T	16	2816108	2816108	C	T	SRRM2	c.5579C>T	NM_016333.4	NP_057417.3:p.(Pro1860Leu)	NC_000016.9:g.2816108C>T	(Likely) benign	1 lab	3f85e40db8
1:24194743 FUCA1 C>A	1	24194743	24194743	C	A	FUCA1	c.34G>T	NM_000147.5	NP_000138.2:p.(Gly12Cys)	NC_000001.10:g.24194743C>A	VUS	1 lab	3f86ac1650
15:77325233 PSTPIP1 G>A	15	77325233	77325233	G	A	PSTPIP1	c.869G>A	NM_003978.5	NP_003969.2:p.(Arg290Gln)	NC_000015.9:g.77325233G>A	(Likely) benign	1 lab	3f86bf8d6d
4:5710190 EVC2 A>AC	4	5710190	5710195	A	AC	EVC2	c.50dup	NM_147127.5	NP_667338.3:p.(Leu18SerfsTer38)	NC_000004.11:g.5710195dup	(Likely) pathogenic	1 lab	3f893739c7
15:74967357 EDC3 G>C	15	74967357	74967357	G	C	EDC3	c.109C>G	NM_025083.5	NP_079359.2:p.(Leu37Val)	NC_000015.9:g.74967357G>C	VUS	1 lab	3f8adcc2ed
16:88871052 CDT1 C>T	16	88871052	88871052	C	T	CDT1	c.328C>T	NM_030928.4	NP_112190.2:p.(His110Tyr)	NC_000016.9:g.88871052C>T	(Likely) benign	1 lab	3f8b29de44
9:119738466 ASTN2 G>A	9	119738466	119738466	G	A	ASTN2	c.1678C>T	NM_001365068.1	NP_001351997.1:p.(Pro560Ser)	NC_000009.11:g.119738466G>A	VUS	1 lab	3f8c8e8fa3
4:77661347 SHROOM3 G>A	4	77661347	77661347	G	A	SHROOM3	c.2021G>A	NM_020859.4	NP_065910.3:p.(Arg674Lys)	NC_000004.11:g.77661347G>A	(Likely) benign	1 lab	3f8cbe7d07
17:78083828 GAA G>A	17	78083828	78083828	G	A	GAA	c.1411G>A	NM_000152.5	NP_000143.2:p.(Glu471Lys)	NC_000017.10:g.78083828G>A	VUS	1 lab	3f916b6258
15:57820978 CGNL1 A>G	15	57820978	57820978	A	G	CGNL1	c.3166A>G	NM_032866.5	NP_116255.2:p.(Lys1056Glu)	NC_000015.9:g.57820978A>G	(Likely) benign	1 lab	3f9214a4a6
18:24128184 KCTD1 T>A	18	24128184	24128184	T	A	KCTD1	c.317A>T	NM_001142730.3	NP_001136202.1:p.(Glu106Val)	NC_000018.9:g.24128184T>A	(Likely) benign	1 lab	3f942bedc9
14:24526449 CARMIL3 A>G	14	24526449	24526449	A	G	CARMIL3	c.1136A>G	NM_138360.4	NP_612369.3:p.(Asp379Gly)	NC_000014.8:g.24526449A>G	(Likely) benign	1 lab	3f94f6c68f
16:30732744 SRCAP C>T	16	30732744	30732744	C	T	SRCAP	c.3488C>T	NM_006662.3	NP_006653.2:p.(Thr1163Ile)	NC_000016.9:g.30732744C>T	VUS	1 lab	3f9544bf96
17:39923751 JUP G>A	17	39923751	39923751	G	A	JUP	c.789C>T	NM_021991.2	NP_068831.1:p.(Ala263=)	NC_000017.10:g.39923751G>A	(Likely) benign	1 lab	1ec25c9926
12:22065994 ABCC9 C>CT	12	22065994	22066000	C	CT	ABCC9	c.822dup	NM_020297.4	NP_064693.2:p.(Val275SerfsTer26)	NC_000012.11:g.22066000dup	VUS	1 lab	1e3d07f0cc
1:1267539 TAS1R3 G>A	1	1267539	1267539	G	A	TAS1R3	c.628G>A	NM_152228.3	NP_689414.2:p.(Ala210Thr)	NC_000001.10:g.1267539G>A	(Likely) benign	1 lab	3f978babef
6:135769508 AHI1 C>T	6	135769508	135769508	C	T	AHI1	c.1546G>A	NM_001134831.2	NP_001128303.1:p.(Glu516Lys)	NC_000006.11:g.135769508C>T	VUS	1 lab	3f9900e105
1:206681102 RASSF5 C>G	1	206681102	206681102	C	G	RASSF5	c.167C>G	NM_182663.4	NP_872604.1:p.(Ala56Gly)	NC_000001.10:g.206681102C>G	VUS	1 lab	3f99c53359
8:19362817 CSGALNACT1 G>A	8	19362817	19362817	G	A	CSGALNACT1	c.529C>T	NM_001354483.2	NP_001341412.1:p.(Arg177Trp)	NC_000008.10:g.19362817G>A	VUS	1 lab	3f9a72c4a1
1:230410315 GALNT2 G>A	1	230410315	230410315	G	A	GALNT2	c.1560+5G>A	NM_004481.5	NP_004472.1:p.?	NC_000001.10:g.230410315G>A	(Likely) benign	1 lab	3f9d503312
3:129210976 IFT122 C>T	3	129210976	129210976	C	T	IFT122	c.1993-8C>T	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129210976C>T	(Likely) benign	1 lab	3f9dbcf1c9
19:8649929 ADAMTS10 G>A	19	8649929	8649929	G	A	ADAMTS10	c.3052C>T	NM_030957.4	NP_112219.3:p.(Gln1018Ter)	NC_000019.9:g.8649929G>A	(Likely) pathogenic	1 lab	3f9dced515
9:140128709 SLC34A3 G>A	9	140128709	140128709	G	A	SLC34A3	c.1074G>A	NM_001177316.2	NP_001170787.2:p.(Val358=)	NC_000009.11:g.140128709G>A	(Likely) benign	1 lab	3f9e4c512b
5:167920950 RARS1 A>G	5	167920950	167920950	A	G	RARS1	c.421A>G	NM_002887.4	NP_002878.2:p.(Ile141Val)	NC_000005.9:g.167920950A>G	VUS	1 lab	3f9ece67e5
1:120468243 NOTCH2 G>C	1	120468243	120468243	G	C	NOTCH2	c.4196C>G	NM_024408.4	NP_077719.2:p.(Ser1399Cys)	NC_000001.10:g.120468243G>C	(Likely) benign	1 lab	3f9fa626e9
X:41201825 DDX3X G>A	X	41201825	41201825	G	A	DDX3X	c.362G>A	NM_001356.5	NP_001347.3:p.(Arg121His)	NC_000023.10:g.41201825G>A	VUS	1 lab	1e3d8cc3ae
15:34102847 RYR3 C>A	15	34102847	34102847	C	A	RYR3	c.10194C>A	NM_001036.6	NP_001027.3:p.(Ser3398Arg)	NC_000015.9:g.34102847C>A	(Likely) benign	1 lab	3fa18f838c
10:97916283 ZNF518A C>A	10	97916283	97916283	C	A	ZNF518A	c.204C>A	NM_001330736.2	NP_001317665.1:p.(Asp68Glu)	NC_000010.10:g.97916283C>A	VUS	1 lab	3fa51e588e
17:79170550 CEP131 C>T	17	79170550	79170550	C	T	CEP131	c.1850G>A	NM_014984.4	NP_055799.2:p.(Arg617Lys)	NC_000017.10:g.79170550C>T	(Likely) benign	1 lab	3fa5a157b7
X:27766835 DCAF8L2 C>T	X	27766835	27766835	C	T	DCAF8L2	c.1823C>T	NM_001353450.2	NP_001340379.1:p.(Ser608Leu)	NC_000023.10:g.27766835C>T	VUS	1 lab	3fa63d9e8d
9:332425 DOCK8 A>G	9	332425	332425	A	G	DOCK8	c.1072A>G	NM_203447.4	NP_982272.2:p.(Ile358Val)	NC_000009.11:g.332425A>G	VUS	1 lab	3fa6c34272
2:27681666 IFT172 G>A	2	27681666	27681666	G	A	IFT172	c.2857C>T	NM_015662.3	NP_056477.1:p.(Arg953Cys)	NC_000002.11:g.27681666G>A	VUS	1 lab	3fa7c1c7d1
20:43042422 HNF4A G>A	20	43042422	43042422	G	A	HNF4A	c.474G>A	NM_000457.5	NP_000448.3:p.(Ala158=)	NC_000020.10:g.43042422G>A	(Likely) benign	1 lab	3fa8d93f54
7:151860332 KMT2C T>A	7	151860332	151860332	T	A	KMT2C	c.10330A>T	NM_170606.3	NP_733751.2:p.(Ser3444Cys)	NC_000007.13:g.151860332T>A	(Likely) benign	1 lab	3fa9256b63
1:8420262 RERE T>C	1	8420262	8420262	T	C	RERE	c.3305A>G	NM_001042681.2	NP_001036146.1:p.(Glu1102Gly)	NC_000001.10:g.8420262T>C	VUS	1 lab	3fa9560019
X:38535118 TSPAN7 C>T	X	38535118	38535118	C	T	TSPAN7	c.597+4C>T	NM_004615.4	NP_004606.2:p.?	NC_000023.10:g.38535118C>T	(Likely) benign	1 lab	3fab01bccf
3:172163121 GHSR G>A	3	172163121	172163121	G	A	GHSR	c.931C>T	NM_198407.2	NP_940799.1:p.(Leu311Phe)	NC_000003.11:g.172163121G>A	VUS	1 lab	3fab875f81
9:35805929 NPR2 T>C	9	35805929	35805929	T	C	NPR2	c.2150T>C	NM_003995.4	NP_003986.2:p.(Ile717Thr)	NC_000009.11:g.35805929T>C	VUS	1 lab	3fac5fd5f2
12:106848414 POLR3B A>G	12	106848414	106848414	A	G	POLR3B	c.2218A>G	NM_018082.6	NP_060552.4:p.(Thr740Ala)	NC_000012.11:g.106848414A>G	(Likely) benign	1 lab	3fae2e8001
19:55107337 LILRA1 G>A	19	55107337	55107337	G	A	LILRA1	c.895G>A	NM_006863.4	NP_006854.1:p.(Gly299Ser)	NC_000019.9:g.55107337G>A	VUS	1 lab	3fb13affaf
6:117198571 RFX6 G>A	6	117198571	117198571	G	A	RFX6	c.133G>A	NM_173560.4	NP_775831.2:p.(Val45Met)	NC_000006.11:g.117198571G>A	(Likely) benign	1 lab	3fb2eaf0a6
16:88788473 PIEZO1 G>A	16	88788473	88788473	G	A	PIEZO1	c.4957C>T	NM_001142864.4	NP_001136336.2:p.(Arg1653Cys)	NC_000016.9:g.88788473G>A	VUS	1 lab	3fb3d500e9
12:116421352 MED13L G>T	12	116421352	116421352	G	T	MED13L	c.4532-7C>A	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116421352G>T	VUS	1 lab	3fb3e3ecba
21:39086915 KCNJ6 T>C	21	39086915	39086915	T	C	KCNJ6	c.545A>G	NM_002240.5	NP_002231.1:p.(Asn182Ser)	NC_000021.8:g.39086915T>C	(Likely) benign	1 lab	3fb427ecf9
3:196053903 TM4SF19 C>A	3	196053903	196053903	C	A	TM4SF19	c.202G>T	NM_138461.4	NP_612470.2:p.(Val68Leu)	NC_000003.11:g.196053903C>A	VUS	1 lab	3fb682e0fc
14:51208397 NIN C>T	14	51208397	51208397	C	T	NIN	c.5351G>A	NM_020921.4	NP_065972.4:p.(Arg1784Gln)	NC_000014.8:g.51208397C>T	(Likely) benign	1 lab	3fb78e1cdd
1:14107243 PRDM2 C>T	1	14107243	14107243	C	T	PRDM2	c.2953C>T	NM_001393986.1	NP_001380915.1:p.(Pro985Ser)	NC_000001.10:g.14107243C>T	(Likely) benign	1 lab	3fb7be6504
3:108287133 CIP2A G>A	3	108287133	108287133	G	A	CIP2A	c.1142C>T	NM_020890.3	NP_065941.2:p.(Ser381Leu)	NC_000003.11:g.108287133G>A	VUS	1 lab	3fb7e7d828
8:77761862 ZFHX4 G>A	8	77761862	77761862	G	A	ZFHX4	c.3760G>A	NM_024721.5	NP_078997.4:p.(Val1254Ile)	NC_000008.10:g.77761862G>A	(Likely) benign	1 lab	3fb8261e6e
21:34945779 SON G>A	21	34945779	34945779	G	A	SON	c.7033+18G>A	NM_138927.2	NP_620305.2:p.?	NC_000021.8:g.34945779G>A	(Likely) benign	1 lab	1ec4c28cee
12:106820993 POLR3B G>T	12	106820993	106820993	G	T	POLR3B	c.1120G>T	NM_018082.6	NP_060552.4:p.(Glu374Ter)	NC_000012.11:g.106820993G>T	(Likely) benign	1 lab	3fbeb633d8
21:47863823 PCNT C>T	21	47863823	47863823	C	T	PCNT	c.9801C>T	NM_006031.6	NP_006022.3:p.(Arg3267=)	NC_000021.8:g.47863823C>T	(Likely) benign	1 lab	3fc2f3be94
7:101870844 CUX1 G>A	7	101870844	101870844	G	A	CUX1	c.3328G>A	NM_181552.4	NP_853530.2:p.(Gly1110Arg)	NC_000007.13:g.101870844G>A	(Likely) benign	1 lab	3fc307d651
1:228559810 OBSCN C>T	1	228559810	228559810	C	T	OBSCN	c.24202C>T	NM_001271223.2	NP_001258152.2:p.(Pro8068Ser)	NC_000001.10:g.228559810C>T	(Likely) benign	1 lab	33f80f9925
17:7405903 POLR2A G>A	17	7405903	7405903	G	A	POLR2A	c.2639G>A	NM_000937.5	NP_000928.1:p.(Arg880Gln)	NC_000017.10:g.7405903G>A	VUS	1 lab	3fc322b782
16:72991799 ZFHX3 T>C	16	72991799	72991799	T	C	ZFHX3	c.2246A>G	NM_006885.4	NP_008816.3:p.(Lys749Arg)	NC_000016.9:g.72991799T>C	VUS	1 lab	3fc3ae958e
12:121986779 KDM2B T>C	12	121986779	121986779	T	C	KDM2B	c.683+3A>G	NM_032590.5	NP_115979.3:p.?	NC_000012.11:g.121986779T>C	(Likely) benign	1 lab	3fc61ee50a
19:33904526 PEPD GAGT>G	19	33904526	33904531	GAGT	G	PEPD	c.692_694del	NM_000285.4	NP_000276.2:p.(Tyr231del)	NC_000019.9:g.33904529_33904531del	(Likely) pathogenic	1 lab	3fc7e7372f
5:149915442 NDST1 A>G	5	149915442	149915442	A	G	NDST1	c.1432A>G	NM_001543.5	NP_001534.1:p.(Ile478Val)	NC_000005.9:g.149915442A>G	VUS	1 lab	3fc98d2523
8:17917112 ASAH1 G>C	8	17917112	17917112	G	C	ASAH1	c.886C>G	NM_177924.5	NP_808592.2:p.(Arg296Gly)	NC_000008.10:g.17917112G>C	VUS	1 lab	3fca37357a
6:118886912 CEP85L G>A	6	118886912	118886912	G	A	CEP85L	c.800C>T	NM_001042475.3	NP_001035940.1:p.(Thr267Ile)	NC_000006.11:g.118886912G>A	VUS	1 lab	3fcb76bfc8
22:42609357 TCF20 A>C	22	42609357	42609357	A	C	TCF20	c.1955T>G	NM_001378418.1	NP_001365347.1:p.(Leu652Arg)	NC_000022.10:g.42609357A>C	VUS	1 lab	3fccf06b4f
8:21956804 FHIP2B G>T	8	21956804	21956804	G	T	FHIP2B	c.1084G>T	NM_022749.7	NP_073586.5:p.(Asp362Tyr)	NC_000008.10:g.21956804G>T	VUS	1 lab	3fcd96dd0e
3:11067199 SLC6A1 C>T	3	11067199	11067199	C	T	SLC6A1	c.779C>T	NM_003042.4	NP_003033.3:p.(Thr260Met)	NC_000003.11:g.11067199C>T	(Likely) benign	1 lab	3fcec4df9c
19:15479038 AKAP8 C>T	19	15479038	15479038	C	T	AKAP8	c.1160+8G>A	NM_005858.4	NP_005849.1:p.?	NC_000019.9:g.15479038C>T	(Likely) benign	1 lab	3fcee9996e
9:35799624 NPR2 G>A	9	35799624	35799624	G	A	NPR2	c.883G>A	NM_003995.4	NP_003986.2:p.(Val295Met)	NC_000009.11:g.35799624G>A	VUS	1 lab	3fceed0b9d
11:45992855 PHF21A T>C	11	45992855	45992855	T	C	PHF21A	c.424A>G	NM_001352027.3	NP_001338956.1:p.(Thr142Ala)	NC_000011.9:g.45992855T>C	VUS	1 lab	3fcf1f62bb
14:105677460 BRF1 G>A	14	105677460	105677460	G	A	BRF1	c.1995C>T	NM_001519.4	NP_001510.2:p.(Asn665=)	NC_000014.8:g.105677460G>A	(Likely) benign	1 lab	3fcf63300a
18:48593490 SMAD4 TAGAC>T	18	48593490	48593497	TAGAC	T	SMAD4	c.1245_1248del	NM_005359.6	NP_005350.1:p.(Asp415GlufsTer20)	NC_000018.9:g.48593494_48593497del	(Likely) pathogenic	1 lab	3fd00c69c1
X:66765158 AR T>TGCAGCAGCAGCAGCAGCAGCAGCA	X	66765158	66765227	T	TGCAGCAGCAGCAGCAGCAGCAGCA	AR	c.216_239dup	NM_000044.6	NP_000035.2:p.(Gln73_Gln80dup)	NC_000023.10:g.66765204_66765227dup	VUS	1 lab	3fd06d42cb
14:76948406 ESRRB C>T	14	76948406	76948406	C	T	ESRRB	c.625C>T	NM_001379180.1	NP_001366109.1:p.(Arg209Trp)	NC_000014.8:g.76948406C>T	VUS	1 lab	3fd1aa8ca5
13:113527463 ATP11A CT>C	13	113527463	113527465	CT	C	ATP11A	c.3058-422del	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113527465del	(Likely) benign	1 lab	3fd324e5f5
15:44890991 SPG11 A>C	15	44890991	44890991	A	C	SPG11	c.3730T>G	NM_025137.4	NP_079413.3:p.(Ser1244Ala)	NC_000015.9:g.44890991A>C	VUS	1 lab	3fd38bce0b
19:10257033 DNMT1 G>A	19	10257033	10257033	G	A	DNMT1	c.2888C>T	NM_001130823.3	NP_001124295.1:p.(Thr963Met)	NC_000019.9:g.10257033G>A	VUS	1 lab	3fd4056223
1:63067980 ANGPTL3 A>T	1	63067980	63067980	A	T	ANGPTL3	c.860A>T	NM_014495.4	NP_055310.1:p.(His287Leu)	NC_000001.10:g.63067980A>T	VUS	1 lab	1e3ff3076d
6:91263173 MAP3K7 G>A	6	91263173	91263173	G	A	MAP3K7	c.736+4C>T	NM_145331.3	NP_663304.1:p.?	NC_000006.11:g.91263173G>A	(Likely) benign	1 lab	3fd54e9f5c
2:27121608 DPYSL5 G>A	2	27121608	27121608	G	A	DPYSL5	c.241G>A	NM_020134.4	NP_064519.2:p.(Asp81Asn)	NC_000002.11:g.27121608G>A	(Likely) benign	1 lab	3fd63d185b
3:24270443 THRB G>A	3	24270443	24270443	G	A	THRB	c.8C>T	NM_001354712.2	NP_001341641.1:p.(Pro3Leu)	NC_000003.11:g.24270443G>A	VUS	1 lab	3fd658ebc9
6:56462768 DST T>C	6	56462768	56462768	T	C	DST	c.11965A>G	NM_001374736.1	NP_001361665.1:p.(Lys3989Glu)	NC_000006.11:g.56462768T>C	VUS	1 lab	3fd681428a
3:9517762 SETD5 C>T	3	9517762	9517762	C	T	SETD5	c.4316C>T	NM_001080517.3	NP_001073986.1:p.(Thr1439Met)	NC_000003.11:g.9517762C>T	VUS	1 lab	3fe4d36f36
4:88537531 DSPP CAGCAGCGAT>C	4	88537531	88537545	CAGCAGCGAT	C	DSPP	c.3723_3731del	NM_014208.3	NP_055023.2:p.(Asp1245_Ser1247del)	NC_000004.11:g.88537537_88537545del	VUS	1 lab	3fd7004c06
2:179475970 TTN A>T	2	179475970	179475970	A	T	TTN	c.50886T>A	NM_001267550.2	NP_001254479.2:p.(His16962Gln)	NC_000002.11:g.179475970A>T	VUS	1 lab	3fd7bc58b9
5:42711394 GHR G>A	5	42711394	42711394	G	A	GHR	c.704G>A	NM_000163.5	NP_000154.1:p.(Arg235Gln)	NC_000005.9:g.42711394G>A	(Likely) benign	1 lab	3fd86947e9
6:117198450 RFX6 C>G	6	117198450	117198450	C	G	RFX6	c.12C>G	NM_173560.4	NP_775831.2:p.(Val4=)	NC_000006.11:g.117198450C>G	(Likely) benign	1 lab	3fda1798c4
2:73680286 ALMS1 C>G	2	73680286	73680286	C	G	ALMS1	c.6632C>G	NM_001378454.1	NP_001365383.1:p.(Ser2211Cys)	NC_000002.11:g.73680286C>G	VUS	1 lab	3fda5c24d1
4:79188088 FRAS1 A>T	4	79188088	79188088	A	T	FRAS1	c.788A>T	NM_025074.7	NP_079350.5:p.(Lys263Met)	NC_000004.11:g.79188088A>T	VUS	1 lab	3fda67ee89
11:120352063 ARHGEF12 C>T	11	120352063	120352063	C	T	ARHGEF12	c.4332C>T	NM_015313.3	NP_056128.1:p.(Gly1444=)	NC_000011.9:g.120352063C>T	VUS	1 lab	3fda95bbe7
6:15468835 JARID2 G>C	6	15468835	15468835	G	C	JARID2	c.556G>C	NM_004973.4	NP_004964.2:p.(Glu186Gln)	NC_000006.11:g.15468835G>C	(Likely) benign	1 lab	3fdab3e7f5
2:25038614 CENPO G>C	2	25038614	25038614	G	C	CENPO	c.583G>C	NM_001322101.2	NP_001309030.1:p.(Asp195His)	NC_000002.11:g.25038614G>C	VUS	1 lab	3fdb4032bb
1:212964862 NSL1 G>A	1	212964862	212964862	G	A	NSL1	c.234+10C>T	NM_015471.4	NP_056286.3:p.?	NC_000001.10:g.212964862G>A	(Likely) benign	1 lab	3fdbb2770d
18:346700 COLEC12 C>T	18	346700	346700	C	T	COLEC12	c.922G>A	NM_130386.3	NP_569057.2:p.(Glu308Lys)	NC_000018.9:g.346700C>T	(Likely) benign	1 lab	3fdc88f50a
11:69951904 ANO1 G>A	11	69951904	69951904	G	A	ANO1	c.747+10G>A	NM_018043.7	NP_060513.5:p.?	NC_000011.9:g.69951904G>A	(Likely) benign	1 lab	3fdd7bd2df
2:166237699 SCN2A C>T	2	166237699	166237699	C	T	SCN2A	c.4543C>T	NM_001040142.2	NP_001035232.1:p.(Arg1515Ter)	NC_000002.11:g.166237699C>T	VUS	1 lab	3fdf0da18e
7:1855870 MAD1L1 G>A	7	1855870	1855870	G	A	MAD1L1	c.1999-6C>T	NM_001013836.2	NP_001013858.1:p.?	NC_000007.13:g.1855870G>A	(Likely) benign	1 lab	3fe2850287
11:93545142 MED17 A>G	11	93545142	93545142	A	G	MED17	c.1868A>G	NM_004268.5	NP_004259.3:p.(Lys623Arg)	NC_000011.9:g.93545142A>G	VUS	1 lab	3fe38c39e3
16:2815471 SRRM2 TCTC>T	16	2815471	2815476	TCTC	T	SRRM2	c.4945_4947del	NM_016333.4	NP_057417.3:p.(Pro1649del)	NC_000016.9:g.2815474_2815476del	(Likely) benign	1 lab	3fe4e4df74
17:39221816 KRTAP2-4 C>T	17	39221816	39221816	C	T	KRTAP2-4	c.282G>A	NM_033184.4	NP_149440.1:p.(Trp94Ter)	NC_000017.10:g.39221816C>T	VUS	1 lab	3fe5ac957c
16:89350176 ANKRD11 T>C	16	89350176	89350176	T	C	ANKRD11	c.2774A>G	NM_013275.6	NP_037407.4:p.(Glu925Gly)	NC_000016.9:g.89350176T>C	VUS	1 lab	3fe654c5a8
18:52988903 TCF4 C>T	18	52988903	52988903	C	T	TCF4	c.549+28687G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52988903C>T	(Likely) benign	1 lab	3fe7ebf0e0
8:30694940 TEX15 G>C	8	30694940	30694940	G	C	TEX15	c.8860C>G	NM_001350162.2	NP_001337091.1:p.(Leu2954Val)	NC_000008.10:g.30694940G>C	(Likely) benign	1 lab	3fe8be021c
11:105776036 GRIA4 C>T	11	105776036	105776036	C	T	GRIA4	c.1158+9C>T	NM_000829.4	NP_000820.4:p.?	NC_000011.9:g.105776036C>T	(Likely) benign	1 lab	3fe8f08b81
6:31721141 MSH5 G>GT	6	31721141	31721147	G	GT	MSH5	c.882dup	NM_172166.4	NP_751898.1:p.(Leu295SerfsTer75)	NC_000006.11:g.31721147dup	VUS	1 lab	3fe9ad5db1
1:2460988 HES5 G>A	1	2460988	2460988	G	A	HES5	c.421C>T	NM_001010926.4	NP_001010926.1:p.(Pro141Ser)	NC_000001.10:g.2460988G>A	VUS	1 lab	3febbbc74d
4:1807901 FGFR3 G>A	4	1807901	1807901	G	A	FGFR3	c.1959+1G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807901G>A	VUS	1 lab	3fec5833e9
X:65247884 VSIG4 A>G	X	65247884	65247884	A	G	VSIG4	c.757+8T>C	NM_007268.3	NP_009199.1:p.?	NC_000023.10:g.65247884A>G	(Likely) benign	1 lab	3fed7e0eda
5:147486672 SPINK5 C>T	5	147486672	147486672	C	T	SPINK5	c.1552C>T	NM_006846.4	NP_006837.2:p.(Arg518Cys)	NC_000005.9:g.147486672C>T	(Likely) benign	1 lab	3fee080530
2:39216873 SOS1 TTA>T	2	39216873	39216878	TTA	T	SOS1	c.3347-420_3347-419del	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39216877_39216878del	(Likely) benign	1 lab	3feeaac98a
6:45459791 RUNX2 C>T	6	45459791	45459791	C	T	RUNX2	c.799C>T	NM_001024630.4	NP_001019801.3:p.(Arg267Trp)	NC_000006.11:g.45459791C>T	(Likely) benign	1 lab	3feeba889c
8:61654740 CHD7 G>A	8	61654740	61654740	G	A	CHD7	c.749G>A	NM_017780.4	NP_060250.2:p.(Arg250His)	NC_000008.10:g.61654740G>A	VUS	1 lab	3fef81fc7d
15:42703497 CAPN3 C>A	15	42703497	42703497	C	A	CAPN3	c.2393C>A	NM_000070.3	NP_000061.1:p.(Ala798Glu)	NC_000015.9:g.42703497C>A	(Likely) pathogenic	1 lab	3ff18296e6
17:54559804 ANKFN1 G>A	17	54559804	54559804	G	A	ANKFN1	c.2179G>A	NM_001370326.1	NP_001357255.1:p.(Val727Ile)	NC_000017.10:g.54559804G>A	VUS	1 lab	3ff1962477
1:1459244 ATAD3A A>G	1	1459244	1459244	A	G	ATAD3A	c.989A>G	NM_001170535.3	NP_001164006.1:p.(Asp330Gly)	NC_000001.10:g.1459244A>G	VUS	1 lab	3ff2d423cb
4:159606337 ETFDH G>A	4	159606337	159606337	G	A	ETFDH	c.572G>A	NM_004453.4	NP_004444.2:p.(Gly191Asp)	NC_000004.11:g.159606337G>A	(Likely) benign	1 lab	3ff2ef0c6b
1:228529893 OBSCN C>T	1	228529893	228529893	C	T	OBSCN	c.20979C>T	NM_001271223.2	NP_001258152.2:p.(Arg6993=)	NC_000001.10:g.228529893C>T	(Likely) benign	1 lab	340185ab06
1:26510247 CNKSR1 A>T	1	26510247	26510247	A	T	CNKSR1	c.781A>T	NM_006314.3	NP_006305.2:p.(Arg261Trp)	NC_000001.10:g.26510247A>T	(Likely) benign	1 lab	3ff3ccded5
2:179479279 TTN C>T	2	179479279	179479279	C	T	TTN	c.48962G>A	NM_001267550.2	NP_001254479.2:p.(Ser16321Asn)	NC_000002.11:g.179479279C>T	VUS	1 lab	3ff3e6add8
12:102025506 MYBPC1 C>G	12	102025506	102025506	C	G	MYBPC1	c.438+9C>G	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102025506C>G	(Likely) benign	1 lab	3ff4de3346
16:4744206 NUDT16L1 C>A	16	4744206	4744206	C	A	NUDT16L1	c.381C>A	NM_032349.4	NP_115725.1:p.(Ile127=)	NC_000016.9:g.4744206C>A	(Likely) benign	1 lab	3ff579afab
16:23646245 PALB2 C>T	16	23646245	23646245	C	T	PALB2	c.1622G>A	NM_024675.4	NP_078951.2:p.(Arg541Lys)	NC_000016.9:g.23646245C>T	VUS	1 lab	3ff6550dcb
19:1506076 ADAMTSL5 G>A	19	1506076	1506076	G	A	ADAMTSL5	c.1354C>T	NM_213604.3	NP_998769.2:p.(Arg452Trp)	NC_000019.9:g.1506076G>A	(Likely) benign	1 lab	3ff88809b4
16:51171110 SALL1 G>A	16	51171110	51171110	G	A	SALL1	c.3888C>T	NM_002968.3	NP_002959.2:p.(Gly1296=)	NC_000016.9:g.51171110G>A	(Likely) benign	1 lab	3ffa581ef0
14:105844896 PACS2 G>A	14	105844896	105844896	G	A	PACS2	c.960-1180G>A	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105844896G>A	(Likely) benign	1 lab	3ffada7480
13:72440538 DACH1 T>TGCCGCC	13	72440538	72440558	T	TGCCGCC	DACH1	c.358_363dup	NM_080759.6	NP_542937.3:p.(Gly120_Gly121dup)	NC_000013.10:g.72440553_72440558dup	VUS	1 lab	3ffc6fca3b
12:119961608 CCDC60 T>C	12	119961608	119961608	T	C	CCDC60	c.1214T>C	NM_178499.5	NP_848594.2:p.(Met405Thr)	NC_000012.11:g.119961608T>C	VUS	1 lab	3ffcb99eff
5:137726982 KDM3B G>A	5	137726982	137726982	G	A	KDM3B	c.1661G>A	NM_016604.4	NP_057688.3:p.(Arg554Gln)	NC_000005.9:g.137726982G>A	VUS	1 lab	3ffd9cf073
10:79396155 KCNMA1 C>T	10	79396155	79396155	C	T	KCNMA1	c.378+868G>A	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396155C>T	(Likely) benign	1 lab	3ffe001a87
13:31803315 B3GLCT G>T	13	31803315	31803315	G	T	B3GLCT	c.161-7G>T	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31803315G>T	(Likely) benign	1 lab	3fff6cff62
9:109691849 ZNF462 C>T	9	109691849	109691849	C	T	ZNF462	c.5656C>T	NM_021224.6	NP_067047.4:p.(Arg1886Cys)	NC_000009.11:g.109691849C>T	(Likely) benign	1 lab	40009debfe
X:136112996 GPR101 T>C	X	136112996	136112996	T	C	GPR101	c.838A>G	NM_054021.2	NP_473362.1:p.(Lys280Glu)	NC_000023.10:g.136112996T>C	VUS	1 lab	40035f3a14
18:55983274 NEDD4L G>T	18	55983274	55983274	G	T	NEDD4L	c.348+10G>T	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.55983274G>T	(Likely) benign	1 lab	40036bd3c0
19:12921216 RNASEH2A A>G	19	12921216	12921216	A	G	RNASEH2A	c.635A>G	NM_006397.3	NP_006388.2:p.(Asn212Ser)	NC_000019.9:g.12921216A>G	VUS	1 lab	4003c48f12
19:7141693 INSR C>T	19	7141693	7141693	C	T	INSR	c.2677G>A	NM_000208.4	NP_000199.2:p.(Asp893Asn)	NC_000019.9:g.7141693C>T	VUS	1 lab	40050f9235
1:225490943 DNAH14 T>G	1	225490943	225490943	T	G	DNAH14	c.8717T>G	NM_001367479.1	NP_001354408.1:p.(Met2906Arg)	NC_000001.10:g.225490943T>G	VUS	1 lab	40051be6d9
11:17483157 ABCC8 C>A	11	17483157	17483157	C	A	ABCC8	c.795G>T	NM_000352.6	NP_000343.2:p.(Arg265=)	NC_000011.9:g.17483157C>A	(Likely) benign	1 lab	4005417c6e
11:65838058 PACS1 CGCA>C	11	65838058	65838078	CGCA	C	PACS1	c.119_121del	NM_018026.4	NP_060496.2:p.(Gln40del)	NC_000011.9:g.65838076_65838078del	(Likely) benign	1 lab	4008154c8f
14:95562992 DICER1 T>A	14	95562992	95562992	T	A	DICER1	c.4265A>T	NM_177438.3	NP_803187.1:p.(Glu1422Val)	NC_000014.8:g.95562992T>A	(Likely) benign	1 lab	40089c9d18
5:72743029 FOXD1 GGCGGCGGCGGCCTGC>G	5	72743029	72743055	GGCGGCGGCGGCCTGC	G	FOXD1	c.1146_1160del	NM_004472.3	NP_004463.1:p.(Gln383_Ala387del)	NC_000005.9:g.72743041_72743055del	(Likely) benign	1 lab	400988112a
7:131853318 PLXNA4 C>T	7	131853318	131853318	C	T	PLXNA4	c.4031G>A	NM_020911.2	NP_065962.1:p.(Arg1344Gln)	NC_000007.13:g.131853318C>T	(Likely) benign	1 lab	4009977d68
16:89627709 RPL13 G>T	16	89627709	89627709	G	T	RPL13	c.179G>T	NM_000977.4	NP_000968.2:p.(Arg60Leu)	NC_000016.9:g.89627709G>T	VUS	1 lab	400998595f
17:79477946 ACTG1 G>A	17	79477946	79477946	G	A	ACTG1	c.984+7C>T	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79477946G>A	(Likely) benign	1 lab	4009ff3aad
7:80546070 SEMA3C C>A	7	80546070	80546070	C	A	SEMA3C	c.28G>T	NM_006379.5	NP_006370.1:p.(Val10Phe)	NC_000007.13:g.80546070C>A	(Likely) benign	1 lab	400b3caa87
3:134270844 CEP63 G>T	3	134270844	134270844	G	T	CEP63	c.1457G>T	NM_001353108.3	NP_001340037.1:p.(Gly486Val)	NC_000003.11:g.134270844G>T	(Likely) benign	1 lab	400c349aa5
12:102813324 IGF1 C>T	12	102813324	102813324	C	T	IGF1	c.365G>A	NM_000618.5	NP_000609.1:p.(Arg122His)	NC_000012.11:g.102813324C>T	VUS	1 lab	400d56cdac
1:22206600 HSPG2 C>T	1	22206600	22206600	C	T	HSPG2	c.2343G>A	NM_005529.7	NP_005520.4:p.(Leu781=)	NC_000001.10:g.22206600C>T	VUS	1 lab	4037936de4
12:106480648 NUAK1 T>C	12	106480648	106480648	T	C	NUAK1	c.377A>G	NM_014840.3	NP_055655.1:p.(Asp126Gly)	NC_000012.11:g.106480648T>C	VUS	1 lab	400e13ff51
2:139428730 NXPH2 T>C	2	139428730	139428730	T	C	NXPH2	c.557A>G	NM_007226.3	NP_009157.1:p.(Asn186Ser)	NC_000002.11:g.139428730T>C	VUS	1 lab	400e519d05
20:19955592 RIN2 C>A	20	19955592	19955592	C	A	RIN2	c.923C>A	NM_018993.4	NP_061866.1:p.(Pro308Gln)	NC_000020.10:g.19955592C>A	VUS	1 lab	400ee85d96
22:41553181 EP300 T>A	22	41553181	41553181	T	A	EP300	c.3270T>A	NM_001429.4	NP_001420.2:p.(Phe1090Leu)	NC_000022.10:g.41553181T>A	VUS	1 lab	400f8235ee
1:183885736 RGL1 G>A	1	183885736	183885736	G	A	RGL1	c.1905G>A	NM_001297671.3	NP_001284600.1:p.(Ser635=)	NC_000001.10:g.183885736G>A	VUS	1 lab	400f94bad4
17:10430361 MYH2 C>T	17	10430361	10430361	C	T	MYH2	c.3884G>A	NM_017534.6	NP_060004.3:p.(Arg1295His)	NC_000017.10:g.10430361C>T	VUS	1 lab	4013cac7f4
11:108186586 ATM C>T	11	108186586	108186586	C	T	ATM	c.6043C>T	NM_000051.4	NP_000042.3:p.(Pro2015Ser)	NC_000011.9:g.108186586C>T	VUS	1 lab	1e4a38c9d3
18:74616372 ZNF236 A>C	18	74616372	74616372	A	C	ZNF236	c.1931A>C	NM_001306089.2	NP_001293018.1:p.(Gln644Pro)	NC_000018.9:g.74616372A>C	(Likely) benign	1 lab	4013f4a6ab
3:9488981 SETD5 C>T	3	9488981	9488981	C	T	SETD5	c.1772C>T	NM_001080517.3	NP_001073986.1:p.(Ser591Phe)	NC_000003.11:g.9488981C>T	VUS	1 lab	40140bd9d5
19:40903397 PRX C>T	19	40903397	40903397	C	T	PRX	c.862G>A	NM_181882.3	NP_870998.2:p.(Val288Met)	NC_000019.9:g.40903397C>T	VUS	1 lab	4014bebcb4
11:102826383 MMP13 G>A	11	102826383	102826383	G	A	MMP13	c.52C>T	NM_002427.4	NP_002418.1:p.(Arg18Trp)	NC_000011.9:g.102826383G>A	(Likely) benign	1 lab	40174ad3cc
X:53421753 SMC1A T>C	X	53421753	53421753	T	C	SMC1A	c.2918A>G	NM_006306.4	NP_006297.2:p.(Tyr973Cys)	NC_000023.10:g.53421753T>C	VUS	1 lab	4017b2a9b7
14:21861377 CHD8 C>T	14	21861377	21861377	C	T	CHD8	c.6356G>A	NM_001170629.2	NP_001164100.1:p.(Ser2119Asn)	NC_000014.8:g.21861377C>T	VUS	1 lab	40180f27ca
7:103131096 RELN A>G	7	103131096	103131096	A	G	RELN	c.9605+19T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103131096A>G	(Likely) benign	1 lab	37a54da3df
X:8138345 VCX2 G>A	X	8138345	8138345	G	A	VCX2	c.148C>T	NM_016378.3	NP_057462.2:p.(Arg50Cys)	NC_000023.10:g.8138345G>A	(Likely) benign	1 lab	4018670147
11:610262 PHRF1 C>G	11	610262	610262	C	G	PHRF1	c.4331C>G	NM_001286581.2	NP_001273510.1:p.(Thr1444Arg)	NC_000011.9:g.610262C>G	(Likely) benign	1 lab	4018dbcad3
1:152278598 FLG G>A	1	152278598	152278598	G	A	FLG	c.8764C>T	NM_002016.2	NP_002007.1:p.(Gln2922Ter)	NC_000001.10:g.152278598G>A	VUS	1 lab	401a1e179e
2:220427139 OBSL1 T>C	2	220427139	220427139	T	C	OBSL1	c.2938A>G	NM_015311.3	NP_056126.1:p.(Thr980Ala)	NC_000002.11:g.220427139T>C	(Likely) benign	1 lab	401a6d5f4e
14:73637751 PSEN1 C>T	14	73637751	73637751	C	T	PSEN1	c.334C>T	NM_000021.4	NP_000012.1:p.(Gln112Ter)	NC_000014.8:g.73637751C>T	VUS	1 lab	401d60be82
6:1612044 FOXC1 G>A	6	1612044	1612044	G	A	FOXC1	c.1364G>A	NM_001453.3	NP_001444.2:p.(Gly455Glu)	NC_000006.11:g.1612044G>A	(Likely) benign	1 lab	401e30da34
15:41192544 VPS18 C>T	15	41192544	41192544	C	T	VPS18	c.1528C>T	NM_020857.3	NP_065908.1:p.(Pro510Ser)	NC_000015.9:g.41192544C>T	(Likely) benign	1 lab	401e556069
X:54817262 ITIH6 C>T	X	54817262	54817262	C	T	ITIH6	c.616+8G>A	NM_198510.3	NP_940912.1:p.?	NC_000023.10:g.54817262C>T	(Likely) benign	1 lab	40214b087c
12:116675505 MED13L T>A	12	116675505	116675505	T	A	MED13L	c.78A>T	NM_015335.5	NP_056150.1:p.(Glu26Asp)	NC_000012.11:g.116675505T>A	(Likely) benign	1 lab	4023b839bc
7:100417826 EPHB4 C>T	7	100417826	100417826	C	T	EPHB4	c.901G>A	NM_004444.5	NP_004435.3:p.(Val301Ile)	NC_000007.13:g.100417826C>T	(Likely) benign	1 lab	4023f7b125
17:5291160 NUP88 G>A	17	5291160	5291160	G	A	NUP88	c.1708C>T	NM_002532.6	NP_002523.2:p.(Gln570Ter)	NC_000017.10:g.5291160G>A	VUS	1 lab	40241ced62
19:13356069 CACNA1A C>T	19	13356069	13356069	C	T	CACNA1A	c.4877G>A	NM_001127222.2	NP_001120694.1:p.(Arg1626His)	NC_000019.9:g.13356069C>T	(Likely) benign	1 lab	402626cbf1
19:36223217 KMT2B C>T	19	36223217	36223217	C	T	KMT2B	c.5767C>T	NM_014727.3	NP_055542.1:p.(Pro1923Ser)	NC_000019.9:g.36223217C>T	(Likely) benign	1 lab	40266687bc
1:20980758 DDOST A>G	1	20980758	20980758	A	G	DDOST	c.752T>C	NM_005216.5	NP_005207.3:p.(Phe251Ser)	NC_000001.10:g.20980758A>G	VUS	1 lab	40272f5d4e
16:1968200 HS3ST6 T>C	16	1968200	1968200	T	C	HS3ST6	c.125A>G	NM_001009606.4	NP_001009606.3:p.(Tyr42Cys)	NC_000016.9:g.1968200T>C	VUS	1 lab	40294db4a6
12:32900234 YARS2 ACT>A	12	32900234	32900239	ACT	A	YARS2	c.1336_1337del	NM_001040436.3	NP_001035526.1:p.(Ser446CysfsTer17)	NC_000012.11:g.32900238_32900239del	VUS	1 lab	402a1ec6b7
8:1575058 DLGAP2 G>C	8	1575058	1575058	G	C	DLGAP2	c.1590+5G>C	NM_001346810.2	NP_001333739.1:p.?	NC_000008.10:g.1575058G>C	(Likely) benign	1 lab	402b0e6f3a
9:13205034 MPDZ CCTT>C	9	13205034	13205044	CCTT	C	MPDZ	c.1544_1546del	NM_001378778.1	NP_001365707.1:p.(Glu515del)	NC_000009.11:g.13205042_13205044del	VUS	1 lab	402ccb337a
11:17483110 ABCC8 G>A	11	17483110	17483110	G	A	ABCC8	c.822+20C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17483110G>A	(Likely) benign	1 lab	402cd465aa
9:131395538 SPTAN1 C>G	9	131395538	131395538	C	G	SPTAN1	c.7359C>G	NM_001130438.3	NP_001123910.1:p.(Tyr2453Ter)	NC_000009.11:g.131395538C>G	VUS	1 lab	402e5f0f0a
19:18288093 IFI30 C>T	19	18288093	18288093	C	T	IFI30	c.627C>T	NM_006332.5	NP_006323.2:p.(Thr209=)	NC_000019.9:g.18288093C>T	(Likely) benign	1 lab	403021a7d1
8:144991524 PLEC G>A	8	144991524	144991524	G	A	PLEC	c.12465C>T	NM_201384.3	NP_958786.1:p.(Tyr4155=)	NC_000008.10:g.144991524G>A	(Likely) benign	1 lab	40304212d7
13:113812987 PROZ G>A	13	113812987	113812987	G	A	PROZ	c.13G>A	NM_003891.3	NP_003882.1:p.(Val5Ile)	NC_000013.10:g.113812987G>A	VUS	1 lab	403086139c
16:2139901 PKD1 G>A	16	2139901	2139901	G	A	PKD1	c.12739C>T	NM_001009944.3	NP_001009944.3:p.(Gln4247Ter)	NC_000016.9:g.2139901G>A	(Likely) pathogenic	1 lab	4031611cb5
7:4830295 AP5Z1 C>T	7	4830295	4830295	C	T	AP5Z1	c.1939-9C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4830295C>T	(Likely) benign	1 lab	4033b71629
17:26732203 SLC46A1 A>T	17	26732203	26732203	A	T	SLC46A1	c.512T>A	NM_080669.6	NP_542400.2:p.(Val171Asp)	NC_000017.10:g.26732203A>T	VUS	1 lab	4033bf29ae
9:13206106 MPDZ T>A	9	13206106	13206106	T	A	MPDZ	c.1291-8A>T	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13206106T>A	VUS	1 lab	4035668a2b
17:18139965 LLGL1 C>T	17	18139965	18139965	C	T	LLGL1	c.1397C>T	NM_004140.4	NP_004131.4:p.(Ala466Val)	NC_000017.10:g.18139965C>T	(Likely) benign	1 lab	40358421ce
9:131012518 DNM1 C>T	9	131012518	131012518	C	T	DNM1	c.2201C>T	NM_004408.4	NP_004399.2:p.(Ala734Val)	NC_000009.11:g.131012518C>T	VUS	1 lab	40358775a0
15:91549621 VPS33B A>AG	15	91549621	91549622	A	AG	VPS33B	c.832dup	NM_018668.5	NP_061138.3:p.(Leu278ProfsTer10)	NC_000015.9:g.91549622dup	(Likely) pathogenic	1 lab	40359c484b
3:33038574 GLB1 G>C	3	33038574	33038574	G	C	GLB1	c.1997C>G	NM_000404.4	NP_000395.3:p.(Pro666Arg)	NC_000003.11:g.33038574G>C	VUS	1 lab	4036f94ead
7:87759715 ADAM22 C>T	7	87759715	87759715	C	T	ADAM22	c.766C>T	NM_001324418.2	NP_001311347.1:p.(Arg256Trp)	NC_000007.13:g.87759715C>T	VUS	1 lab	40377a3d05
1:145516416 PEX11B C>T	1	145516416	145516416	C	T	PEX11B	c.16C>T	NM_003846.3	NP_003837.1:p.(Arg6Cys)	NC_000001.10:g.145516416C>T	VUS	1 lab	403867c829
11:17667403 OTOG G>A	11	17667403	17667403	G	A	OTOG	c.8654G>A	NM_001292063.2	NP_001278992.1:p.(Arg2885His)	NC_000011.9:g.17667403G>A	(Likely) benign	1 lab	403a58ec27
12:53586536 ITGB7 C>T	12	53586536	53586536	C	T	ITGB7	c.1885G>A	NM_000889.3	NP_000880.1:p.(Gly629Ser)	NC_000012.11:g.53586536C>T	(Likely) benign	1 lab	404a2dcd6b
2:152474001 NEB A>AAAG	2	152474001	152474003	A	AAAG	NEB	c.11077-20_11077-19insCTT	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474002_152474003insAGA	VUS	1 lab	403daf2bfb
16:15820740 MYH11 G>A	16	15820740	15820740	G	A	MYH11	c.3823C>T	NM_002474.3	NP_002465.1:p.(Arg1275Trp)	NC_000016.9:g.15820740G>A	VUS	1 lab	403e0361f4
8:100994172 RGS22 T>C	8	100994172	100994172	T	C	RGS22	c.3353A>G	NM_015668.5	NP_056483.3:p.(Glu1118Gly)	NC_000008.10:g.100994172T>C	(Likely) benign	1 lab	403f5b0e59
2:241874985 CROCC2 C>T	2	241874985	241874985	C	T	CROCC2	c.2149C>T	NM_001351305.2	NP_001338234.1:p.(Leu717Phe)	NC_000002.11:g.241874985C>T	(Likely) benign	1 lab	4040222d85
2:179611772 TTN T>C	2	179611772	179611772	T	C	TTN	c.11312-5124A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611772T>C	VUS	1 lab	4040470e8c
8:143957723 CYP11B1 A>C	8	143957723	143957723	A	C	CYP11B1	c.888T>G	NM_000497.4	NP_000488.3:p.(Asn296Lys)	NC_000008.10:g.143957723A>C	(Likely) benign	1 lab	4041adb5bb
X:123181290 STAG2 C>T	X	123181290	123181290	C	T	STAG2	c.754C>T	NM_001042750.2	NP_001036215.1:p.(Arg252Trp)	NC_000023.10:g.123181290C>T	(Likely) benign	1 lab	4041e2e966
15:43827512 PPIP5K1 C>G	15	43827512	43827512	C	G	PPIP5K1	c.3833G>C	NM_001394395.1	NP_001381324.1:p.(Gly1278Ala)	NC_000015.9:g.43827512C>G	VUS	1 lab	4042f81248
1:225591052 LBR T>C	1	225591052	225591052	T	C	LBR	c.1801A>G	NM_002296.4	NP_002287.2:p.(Lys601Glu)	NC_000001.10:g.225591052T>C	(Likely) benign	1 lab	404334209d
6:117245860 RFX6 CGAT>C	6	117245860	117245865	CGAT	C	RFX6	c.1587_1589del	NM_173560.4	NP_775831.2:p.(Asp529del)	NC_000006.11:g.117245863_117245865del	VUS	1 lab	4044836b69
5:149513456 PDGFRB G>T	5	149513456	149513456	G	T	PDGFRB	c.747C>A	NM_002609.4	NP_002600.1:p.(Tyr249Ter)	NC_000005.9:g.149513456G>T	VUS	1 lab	4044a9a7a8
22:41903948 ACO2 G>T	22	41903948	41903948	G	T	ACO2	c.327G>T	NM_001098.3	NP_001089.1:p.(Gln109His)	NC_000022.10:g.41903948G>T	VUS	1 lab	40470e5146
3:87027685 VGLL3 G>C	3	87027685	87027685	G	C	VGLL3	c.394C>G	NM_016206.4	NP_057290.2:p.(Leu132Val)	NC_000003.11:g.87027685G>C	(Likely) benign	1 lab	40475307f6
5:148406386 SH3TC2 T>C	5	148406386	148406386	T	C	SH3TC2	c.2872+37A>G	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148406386T>C	(Likely) benign	1 lab	3402344ae0
15:63986742 HERC1 T>C	15	63986742	63986742	T	C	HERC1	c.5249A>G	NM_003922.4	NP_003913.3:p.(Gln1750Arg)	NC_000015.9:g.63986742T>C	VUS	1 lab	4048ab5b62
4:114267077 ANK2 C>G	4	114267077	114267077	C	G	ANK2	c.4270C>G	NM_001148.6	NP_001139.3:p.(Pro1424Ala)	NC_000004.11:g.114267077C>G	VUS	1 lab	404a5c9f16
10:88476152 LDB3 G>C	10	88476152	88476152	G	C	LDB3	c.1300G>C	NM_007078.3	NP_009009.1:p.(Ala434Pro)	NC_000010.10:g.88476152G>C	(Likely) benign	1 lab	404aaec5e0
10:27349326 ANKRD26 ATCTT>A	10	27349326	27349332	ATCTT	A	ANKRD26	c.1508_1511del	NM_014915.3	NP_055730.2:p.(Lys503IlefsTer10)	NC_000010.10:g.27349329_27349332del	VUS	1 lab	404eaa867f
8:144874037 SCRIB GCTC>G	8	144874037	144874043	GCTC	G	SCRIB	c.4695+6_4695+8del	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144874041_144874043del	(Likely) benign	1 lab	404ed18a72
9:43627024 SPATA31A6 G>T	9	43627024	43627024	G	T	SPATA31A6	c.1663C>A	NM_001145196.1	NP_001138668.1:p.(Pro555Thr)	NC_000009.11:g.43627024G>T	VUS	1 lab	404f24dd7d
11:6644086 DCHS1 C>T	11	6644086	6644086	C	T	DCHS1	c.8821G>A	NM_003737.4	NP_003728.1:p.(Val2941Met)	NC_000011.9:g.6644086C>T	VUS	1 lab	4050c4e1fb
2:238285841 COL6A3 C>T	2	238285841	238285841	C	T	COL6A3	c.2644G>A	NM_004369.4	NP_004360.2:p.(Asp882Asn)	NC_000002.11:g.238285841C>T	VUS	1 lab	405369666c
11:108180928 ATM A>T	11	108180928	108180928	A	T	ATM	c.5804A>T	NM_000051.4	NP_000042.3:p.(Asp1935Val)	NC_000011.9:g.108180928A>T	VUS	1 lab	4056267c95
2:33172827 LTBP1 G>A	2	33172827	33172827	G	A	LTBP1	c.436G>A	NM_206943.4	NP_996826.3:p.(Glu146Lys)	NC_000002.11:g.33172827G>A	(Likely) benign	1 lab	4056671c17
3:71049808 FOXP1 G>A	3	71049808	71049808	G	A	FOXP1	c.1062+315C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71049808G>A	(Likely) benign	1 lab	40578523e6
22:50502467 MLC1 C>CCCG	22	50502467	50502469	C	CCCG	MLC1	c.1054_1055insCGG	NM_015166.4	NP_055981.1:p.(Ala351dup)	NC_000022.10:g.50502468_50502469insCGC	VUS	1 lab	4057f216d6
12:121416917 HNF1A C>A	12	121416917	121416917	C	A	HNF1A	c.326+20C>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121416917C>A	(Likely) benign	1 lab	405815e938
22:36716406 MYH9 C>T	22	36716406	36716406	C	T	MYH9	c.871G>A	NM_002473.6	NP_002464.1:p.(Asp291Asn)	NC_000022.10:g.36716406C>T	VUS	1 lab	40dfd473ae
13:26155984 ATP8A2 A>G	13	26155984	26155984	A	G	ATP8A2	c.2035A>G	NM_016529.6	NP_057613.4:p.(Ile679Val)	NC_000013.10:g.26155984A>G	VUS	1 lab	40588ff233
19:39406773 SARS2 G>A	19	39406773	39406773	G	A	SARS2	c.1255-4C>T	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39406773G>A	VUS	1 lab	405a56f989
19:5696164 LONP1 C>T	19	5696164	5696164	C	T	LONP1	c.1914G>A	NM_004793.4	NP_004784.2:p.(Thr638=)	NC_000019.9:g.5696164C>T	(Likely) benign	1 lab	405cbf49a1
16:3778893 CREBBP C>T	16	3778893	3778893	C	T	CREBBP	c.6155G>A	NM_004380.3	NP_004371.2:p.(Arg2052Gln)	NC_000016.9:g.3778893C>T	VUS	1 lab	405d80a2a2
4:2130921 POLN T>C	4	2130921	2130921	T	C	POLN	c.1852A>G	NM_181808.4	NP_861524.2:p.(Thr618Ala)	NC_000004.11:g.2130921T>C	(Likely) benign	1 lab	405f2d76f7
15:99251264 IGF1R C>T	15	99251264	99251264	C	T	IGF1R	c.568C>T	NM_000875.5	NP_000866.1:p.(Pro190Ser)	NC_000015.9:g.99251264C>T	(Likely) benign	1 lab	405f4728c4
1:236715417 HEATR1 A>T	1	236715417	236715417	A	T	HEATR1	c.6238-10T>A	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236715417A>T	(Likely) benign	1 lab	405fa0197d
5:60628153 ZSWIM6 G>GGGCGGC	5	60628153	60628173	G	GGGCGGC	ZSWIM6	c.69_74dup	NM_020928.2	NP_065979.1:p.(Gly25_Gly26dup)	NC_000005.9:g.60628168_60628173dup	(Likely) benign	1 lab	405fc87a34
10:97131125 SORBS1 T>C	10	97131125	97131125	T	C	SORBS1	c.1863A>G	NM_001034954.3	NP_001030126.2:p.(Lys621=)	NC_000010.10:g.97131125T>C	(Likely) benign	1 lab	406160d4d8
16:88782962 PIEZO1 C>T	16	88782962	88782962	C	T	PIEZO1	c.6926+5G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88782962C>T	(Likely) benign	1 lab	40619db978
X:69424238 DGAT2L6 T>C	X	69424238	69424238	T	C	DGAT2L6	c.731T>C	NM_198512.3	NP_940914.1:p.(Leu244Ser)	NC_000023.10:g.69424238T>C	VUS	1 lab	4061ed9380
12:31237936 DDX11 C>T	12	31237936	31237936	C	T	DDX11	c.514C>T	NM_030653.4	NP_085911.2:p.(Arg172Cys)	NC_000012.11:g.31237936C>T	VUS	1 lab	4062cc808d
1:156145341 SEMA4A T>C	1	156145341	156145341	T	C	SEMA4A	c.1593-6T>C	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156145341T>C	VUS	1 lab	406376730f
1:67519636 SLC35D1 AGGATTTCGCGGG>A	1	67519636	67519650	AGGATTTCGCGGG	A	SLC35D1	c.49_60del	NM_015139.3	NP_055954.1:p.(Pro17_Ser20del)	NC_000001.10:g.67519639_67519650del	VUS	1 lab	40660340bf
12:52139733 SCN8A T>C	12	52139733	52139733	T	C	SCN8A	c.2045T>C	NM_001330260.2	NP_001317189.1:p.(Leu682Ser)	NC_000012.11:g.52139733T>C	VUS	1 lab	40661b0c66
19:38976403 RYR1 C>T	19	38976403	38976403	C	T	RYR1	c.5108C>T	NM_000540.3	NP_000531.2:p.(Pro1703Leu)	NC_000019.9:g.38976403C>T	VUS	1 lab	4066700529
10:61958241 ANK3 G>A	10	61958241	61958241	G	A	ANK3	c.1546C>T	NM_020987.5	NP_066267.2:p.(Gln516Ter)	NC_000010.10:g.61958241G>A	VUS	1 lab	1e4f2630bb
3:38519890 ACVR2B C>T	3	38519890	38519890	C	T	ACVR2B	c.547C>T	NM_001106.4	NP_001097.2:p.(Pro183Ser)	NC_000003.11:g.38519890C>T	VUS	1 lab	4066f29abf
5:149755125 TCOF1 C>T	5	149755125	149755125	C	T	TCOF1	c.1704+8C>T	NM_001371623.1	NP_001358552.1:p.?	NC_000005.9:g.149755125C>T	(Likely) benign	1 lab	4066fc93f7
2:238287545 COL6A3 G>A	2	238287545	238287545	G	A	COL6A3	c.2231C>T	NM_004369.4	NP_004360.2:p.(Pro744Leu)	NC_000002.11:g.238287545G>A	VUS	1 lab	406792231f
2:175613555 CHRNA1 A>G	2	175613555	175613555	A	G	CHRNA1	c.1003-8T>C	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175613555A>G	(Likely) benign	1 lab	406983e47f
15:83331599 AP3B2 A>G	15	83331599	83331599	A	G	AP3B2	c.2680T>C	NM_001278512.2	NP_001265441.1:p.(Tyr894His)	NC_000015.9:g.83331599A>G	VUS	1 lab	406ba24a63
4:126240255 FAT4 A>G	4	126240255	126240255	A	G	FAT4	c.2689A>G	NM_001291303.3	NP_001278232.1:p.(Ile897Val)	NC_000004.11:g.126240255A>G	VUS	1 lab	406ba5ae6e
12:122966531 ZCCHC8 ACTT>A	12	122966531	122966539	ACTT	A	ZCCHC8	c.833_835del	NM_017612.5	NP_060082.2:p.(Glu278del)	NC_000012.11:g.122966537_122966539del	(Likely) benign	1 lab	406dde930e
10:89472951 PAPSS2 C>G	10	89472951	89472951	C	G	PAPSS2	c.265C>G	NM_001015880.2	NP_001015880.1:p.(Leu89Val)	NC_000010.10:g.89472951C>G	VUS	1 lab	406e1a2a2d
X:7023672 PUDP G>A	X	7023672	7023672	G	A	PUDP	c.269C>T	NM_012080.5	NP_036212.3:p.(Ala90Val)	NC_000023.10:g.7023672G>A	(Likely) benign	1 lab	40704d7fa0
17:71640187 SDK2 T>C	17	71640187	71640187	T	C	SDK2	c.41A>G	NM_001144952.2	NP_001138424.1:p.(Gln14Arg)	NC_000017.10:g.71640187T>C	(Likely) benign	1 lab	4070920de6
11:119149241 CBL C>T	11	119149241	119149241	C	T	CBL	c.1249C>T	NM_005188.4	NP_005179.2:p.(Pro417Ser)	NC_000011.9:g.119149241C>T	VUS	1 lab	4071230110
14:23873527 MYH6 C>T	14	23873527	23873527	C	T	MYH6	c.713G>A	NM_002471.4	NP_002462.2:p.(Arg238Gln)	NC_000014.8:g.23873527C>T	VUS	1 lab	407255045c
2:160289359 BAZ2B A>C	2	160289359	160289359	A	C	BAZ2B	c.1809T>G	NM_013450.4	NP_038478.2:p.(Asp603Glu)	NC_000002.11:g.160289359A>C	(Likely) benign	1 lab	407471bca9
3:37092119 MLH1 T>C	3	37092119	37092119	T	C	MLH1	c.2246T>C	NM_000249.4	NP_000240.1:p.(Leu749Pro)	NC_000003.11:g.37092119T>C	(Likely) pathogenic	1 lab	40765b89bd
20:37353489 SLC32A1 C>A	20	37353489	37353489	C	A	SLC32A1	c.122C>A	NM_080552.3	NP_542119.1:p.(Ala41Glu)	NC_000020.10:g.37353489C>A	VUS	1 lab	408b622a38
5:60628618 ZSWIM6 TGCCGCCGCCGCC>T	5	60628618	60628650	TGCCGCCGCCGCC	T	ZSWIM6	c.540_551del	NM_020928.2	NP_065979.1:p.(Ala181_Ala184del)	NC_000005.9:g.60628639_60628650del	VUS	1 lab	4076a7a02c
21:47771443 PCNT A>G	21	47771443	47771443	A	G	PCNT	c.1445A>G	NM_006031.6	NP_006022.3:p.(Gln482Arg)	NC_000021.8:g.47771443A>G	VUS	1 lab	4076a8e917
17:61995399 GH1 C>A	17	61995399	61995399	C	A	GH1	c.269G>T	NM_000515.5	NP_000506.2:p.(Arg90Met)	NC_000017.10:g.61995399C>A	VUS	1 lab	4078f88366
17:45368350 ITGB3 C>T	17	45368350	45368350	C	T	ITGB3	c.1156C>T	NM_000212.3	NP_000203.2:p.(Arg386Cys)	NC_000017.10:g.45368350C>T	VUS	1 lab	407a882db6
2:149806968 KIF5C C>T	2	149806968	149806968	C	T	KIF5C	c.960C>T	NM_004522.3	NP_004513.1:p.(Phe320=)	NC_000002.11:g.149806968C>T	VUS	1 lab	407be5b4ae
9:135777084 TSC1 C>T	9	135777084	135777084	C	T	TSC1	c.2394G>A	NM_000368.5	NP_000359.1:p.(Thr798=)	NC_000009.11:g.135777084C>T	(Likely) benign	1 lab	407c19974e
21:34951868 DONSON C>A	21	34951868	34951868	C	A	DONSON	c.1351G>T	NM_017613.4	NP_060083.1:p.(Ala451Ser)	NC_000021.8:g.34951868C>A	(Likely) benign	1 lab	407ddb801c
17:61995743 GH1 C>T	17	61995743	61995743	C	T	GH1	c.134G>A	NM_000515.5	NP_000506.2:p.(Arg45His)	NC_000017.10:g.61995743C>T	(Likely) benign	1 lab	407ef373a2
17:80041950 FASN G>A	17	80041950	80041950	G	A	FASN	c.4999C>T	NM_004104.5	NP_004095.4:p.(Pro1667Ser)	NC_000017.10:g.80041950G>A	(Likely) benign	1 lab	407f04af8e
12:132547095 EP400 AGC>A	12	132547095	132547097	AGC	A	EP400	c.8184_8185del	NM_015409.5	NP_056224.3:p.(Gln2729AlafsTer253)	NC_000012.11:g.132547096_132547097del	VUS	1 lab	4080c5c3e6
19:50910353 POLD1 G>A	19	50910353	50910353	G	A	POLD1	c.1608G>A	NM_002691.4	NP_002682.2:p.(Ala536=)	NC_000019.9:g.50910353G>A	VUS	1 lab	4080e1d65c
16:58073862 MMP15 C>T	16	58073862	58073862	C	T	MMP15	c.524C>T	NM_002428.4	NP_002419.1:p.(Thr175Met)	NC_000016.9:g.58073862C>T	VUS	1 lab	40852ad6d7
11:1955891 TNNT3 G>C	11	1955891	1955891	G	C	TNNT3	c.590+6G>C	NM_006757.4	NP_006748.1:p.?	NC_000011.9:g.1955891G>C	(Likely) benign	1 lab	40ba980397
11:68703808 IGHMBP2 T>G	11	68703808	68703808	T	G	IGHMBP2	c.1860T>G	NM_002180.3	NP_002171.2:p.(His620Gln)	NC_000011.9:g.68703808T>G	(Likely) benign	1 lab	4085f9abf0
10:89623714 PTEN G>C	10	89623714	89623714	G	C	PTEN	c.-513G>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623714G>C	VUS	1 lab	4088e0232a
2:152473986 NEB C>CAA	2	152473986	152474002	C	CAA	NEB	c.11077-6_11077-5dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474001_152474002dup	(Likely) benign	1 lab	40890e197f
22:30864655 SEC14L3 A>G	22	30864655	30864655	A	G	SEC14L3	c.263T>C	NM_174975.5	NP_777635.1:p.(Leu88Pro)	NC_000022.10:g.30864655A>G	(Likely) benign	1 lab	408bac2c61
7:69271088 AUTS2 G>T	7	69271088	69271088	G	T	AUTS2	c.310-93184G>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69271088G>T	VUS	1 lab	408c403178
20:34802262 EPB41L1 ACTC>A	20	34802262	34802271	ACTC	A	EPB41L1	c.2185-10_2185-8del	NM_012156.2	NP_036288.2:p.?	NC_000020.10:g.34802269_34802271del	(Likely) benign	1 lab	408caf87b5
16:88802617 PIEZO1 A>C	16	88802617	88802617	A	C	PIEZO1	c.1496T>G	NM_001142864.4	NP_001136336.2:p.(Val499Gly)	NC_000016.9:g.88802617A>C	VUS	1 lab	408d95afb0
9:138671239 KCNT1 A>G	9	138671239	138671239	A	G	KCNT1	c.2764A>G	NM_020822.3	NP_065873.2:p.(Thr922Ala)	NC_000009.11:g.138671239A>G	VUS	1 lab	408dc75def
2:145154164 ZEB2 G>A	2	145154164	145154164	G	A	ZEB2	c.2887-5C>T	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145154164G>A	(Likely) benign	1 lab	408e8bd49d
11:6651236 DCHS1 T>G	11	6651236	6651236	T	G	DCHS1	c.4789A>C	NM_003737.4	NP_003728.1:p.(Ser1597Arg)	NC_000011.9:g.6651236T>G	(Likely) benign	1 lab	408ea1db03
21:47542860 COL6A2 C>T	21	47542860	47542860	C	T	COL6A2	c.1671+9C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47542860C>T	(Likely) benign	1 lab	409009fc2c
11:2906700 CDKN1C C>T	11	2906700	2906700	C	T	CDKN1C	c.-10-4G>A	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2906700C>T	VUS	1 lab	4091c5bf1e
2:167141016 SCN9A T>A	2	167141016	167141016	T	A	SCN9A	c.1921A>T	NM_001365536.1	NP_001352465.1:p.(Asn641Tyr)	NC_000002.11:g.167141016T>A	(Likely) benign	1 lab	4093ae5b3e
7:44190541 GCK T>C	7	44190541	44190541	T	C	GCK	c.483+14A>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44190541T>C	(Likely) benign	1 lab	4093c238b1
19:18272832 PIK3R2 A>G	19	18272832	18272832	A	G	PIK3R2	c.872A>G	NM_005027.4	NP_005018.2:p.(His291Arg)	NC_000019.9:g.18272832A>G	(Likely) benign	1 lab	40942fa42f
3:184064792 CLCN2 T>C	3	184064792	184064792	T	C	CLCN2	c.2433A>G	NM_004366.6	NP_004357.3:p.(Ser811=)	NC_000003.11:g.184064792T>C	(Likely) benign	1 lab	40951626f6
18:29446822 TRAPPC8 T>TC	18	29446822	29446824	T	TC	TRAPPC8	c.2579dup	NM_014939.5	NP_055754.3:p.(Cys861MetfsTer26)	NC_000018.9:g.29446824dup	VUS	1 lab	4095879816
4:174450363 HAND2 T>TGCG	4	174450363	174450380	T	TGCG	HAND2	c.75_77dup	NM_021973.3	NP_068808.1:p.(Ala32dup)	NC_000004.11:g.174450378_174450380dup	VUS	1 lab	4096b064ec
3:12458209 PPARG G>A	3	12458209	12458209	G	A	PPARG	c.736G>A	NM_138711.6	NP_619725.3:p.(Val246Ile)	NC_000003.11:g.12458209G>A	(Likely) benign	1 lab	4097e060cc
21:32624314 TIAM1 C>G	21	32624314	32624314	C	G	TIAM1	c.1155G>C	NM_001353694.2	NP_001340623.1:p.(Glu385Asp)	NC_000021.8:g.32624314C>G	VUS	1 lab	4099792109
7:128485193 FLNC C>A	7	128485193	128485193	C	A	FLNC	c.3674C>A	NM_001458.5	NP_001449.3:p.(Thr1225Asn)	NC_000007.13:g.128485193C>A	VUS	1 lab	409b6899d8
19:11346352 DOCK6 G>A	19	11346352	11346352	G	A	DOCK6	c.2476C>T	NM_020812.4	NP_065863.2:p.(Arg826Cys)	NC_000019.9:g.11346352G>A	(Likely) benign	1 lab	409cb1cd1a
18:19752208 GATA6 C>T	18	19752208	19752208	C	T	GATA6	c.1103C>T	NM_005257.6	NP_005248.2:p.(Ala368Val)	NC_000018.9:g.19752208C>T	VUS	1 lab	40a2571558
3:48896011 SLC25A20 G>A	3	48896011	48896011	G	A	SLC25A20	c.772C>T	NM_000387.6	NP_000378.1:p.(Arg258Trp)	NC_000003.11:g.48896011G>A	VUS	1 lab	40a2bb2bb0
11:125490677 STT3A T>C	11	125490677	125490677	T	C	STT3A	c.2090T>C	NM_152713.5	NP_689926.1:p.(Leu697Pro)	NC_000011.9:g.125490677T>C	(Likely) benign	1 lab	40a36025c5
1:22191394 HSPG2 C>T	1	22191394	22191394	C	T	HSPG2	c.4568G>A	NM_005529.7	NP_005520.4:p.(Arg1523His)	NC_000001.10:g.22191394C>T	(Likely) benign	1 lab	40a4128fde
2:166773850 TTC21B C>T	2	166773850	166773850	C	T	TTC21B	c.1816G>A	NM_024753.5	NP_079029.3:p.(Asp606Asn)	NC_000002.11:g.166773850C>T	(Likely) benign	1 lab	40a47aef0b
5:58284377 PDE4D T>C	5	58284377	58284377	T	C	PDE4D	c.1495A>G	NM_001104631.2	NP_001098101.1:p.(Ser499Gly)	NC_000005.9:g.58284377T>C	VUS	1 lab	40a551faba
2:16082844 MYCN G>T	2	16082844	16082844	G	T	MYCN	c.658G>T	NM_005378.6	NP_005369.2:p.(Ala220Ser)	NC_000002.11:g.16082844G>T	(Likely) benign	1 lab	40a7d3fb22
3:183860606 EIF2B5 G>A	3	183860606	183860606	G	A	EIF2B5	c.1586G>A	NM_003907.3	NP_003898.2:p.(Ser529Asn)	NC_000003.11:g.183860606G>A	VUS	1 lab	40a7d8acb8
21:34926009 SON C>T	21	34926009	34926009	C	T	SON	c.4472C>T	NM_138927.4	NP_620305.3:p.(Ser1491Phe)	NC_000021.8:g.34926009C>T	(Likely) benign	1 lab	40a7f31aad
3:71179668 FOXP1 GCGAAGGGAGCCCGTACTGT>G	3	71179668	71179688	GCGAAGGGAGCCCGTACTGT	G	FOXP1	c.181-17899_181-17881del	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71179670_71179688del	(Likely) benign	1 lab	40a8924a89
5:112176583 APC G>A	5	112176583	112176583	G	A	APC	c.5292G>A	NM_000038.6	NP_000029.2:p.(Gln1764=)	NC_000005.9:g.112176583G>A	VUS	1 lab	40a9eae20f
7:6037056 PMS2 T>A	7	6037056	6037056	T	A	PMS2	c.706-2A>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037056T>A	(Likely) benign	1 lab	40ab14b10e
3:105400420 CBLB T>C	3	105400420	105400420	T	C	CBLB	c.2331A>G	NM_170662.5	NP_733762.2:p.(Pro777=)	NC_000003.11:g.105400420T>C	(Likely) benign	1 lab	40acd4b312
1:157665830 FCRL3 T>C	1	157665830	157665830	T	C	FCRL3	c.1132A>G	NM_052939.4	NP_443171.2:p.(Ile378Val)	NC_000001.10:g.157665830T>C	(Likely) benign	1 lab	40af434401
1:153751247 SLC27A3 A>G	1	153751247	153751247	A	G	SLC27A3	c.1532A>G	NM_024330.4	NP_077306.3:p.(Lys511Arg)	NC_000001.10:g.153751247A>G	VUS	1 lab	40b0248b2f
11:5345482 OR51B2 G>A	11	5345482	5345482	G	A	OR51B2	c.46C>T	NM_033180.5	NP_149420.4:p.(Pro16Ser)	NC_000011.9:g.5345482G>A	VUS	1 lab	40debb2bef
X:55513511 USP51 A>G	X	55513511	55513511	A	G	USP51	c.1862T>C	NM_201286.4	NP_958443.1:p.(Met621Thr)	NC_000023.10:g.55513511A>G	VUS	1 lab	40b25cdfdc
14:21860791 CHD8 G>A	14	21860791	21860791	G	A	CHD8	c.6646C>T	NM_001170629.2	NP_001164100.1:p.(Pro2216Ser)	NC_000014.8:g.21860791G>A	VUS	1 lab	40b2976446
12:94072578 CRADD C>T	12	94072578	94072578	C	T	CRADD	c.28C>T	NM_003805.5	NP_003796.1:p.(Arg10Cys)	NC_000012.11:g.94072578C>T	VUS	1 lab	40b2afffea
8:68071358 CSPP1 G>A	8	68071358	68071358	G	A	CSPP1	c.2524G>A	NM_001382391.1	NP_001369320.1:p.(Gly842Arg)	NC_000008.10:g.68071358G>A	(Likely) benign	1 lab	40b2f44479
3:193166028 ATP13A4 T>C	3	193166028	193166028	T	C	ATP13A4	c.2119A>G	NM_032279.4	NP_115655.2:p.(Ile707Val)	NC_000003.11:g.193166028T>C	VUS	1 lab	40b39739f6
1:173802635 DARS2 A>G	1	173802635	173802635	A	G	DARS2	c.614A>G	NM_018122.5	NP_060592.2:p.(His205Arg)	NC_000001.10:g.173802635A>G	VUS	1 lab	40b3b01ab4
20:3211575 SLC4A11 T>C	20	3211575	3211575	T	C	SLC4A11	c.1168+4A>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3211575T>C	(Likely) benign	1 lab	40b45984de
11:18014475 SERGEF T>C	11	18014475	18014475	T	C	SERGEF	c.685+3A>G	NM_012139.4	NP_036271.1:p.?	NC_000011.9:g.18014475T>C	(Likely) benign	1 lab	40b5c7f5d2
2:109380235 RANBP2 C>T	2	109380235	109380235	C	T	RANBP2	c.3240C>T	NM_006267.4	NP_006258.3:p.(Gly1080=)	NC_000002.11:g.109380235C>T	(Likely) benign	1 lab	1ece177704
1:216595473 USH2A C>A	1	216595473	216595473	C	A	USH2A	c.206G>T	NM_206933.4	NP_996816.3:p.(Ser69Ile)	NC_000001.10:g.216595473C>A	(Likely) pathogenic	1 lab	40b6871a63
6:88273843 RARS2 C>T	6	88273843	88273843	C	T	RARS2	c.213+5G>A	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88273843C>T	(Likely) benign	1 lab	40b84d12b7
1:171621608 MYOC C>A	1	171621608	171621608	C	A	MYOC	c.144G>T	NM_000261.2	NP_000252.1:p.(Gln48His)	NC_000001.10:g.171621608C>A	VUS	1 lab	40b98b7412
1:103427465 COL11A1 C>A	1	103427465	103427465	C	A	COL11A1	c.3125G>T	NM_001854.4	NP_001845.3:p.(Gly1042Val)	NC_000001.10:g.103427465C>A	VUS	1 lab	40ba1a4695
18:52899907 TCF4 C>T	18	52899907	52899907	C	T	TCF4	c.1487-5G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52899907C>T	(Likely) benign	1 lab	40bb3905da
9:71789291 TJP2 G>T	9	71789291	71789291	G	T	TJP2	c.3G>T	NM_004817.4	NP_004808.2:p.(Met1?)	NC_000009.11:g.71789291G>T	VUS	1 lab	40bbb0f344
1:45798115 MUTYH C>A	1	45798115	45798115	C	A	MUTYH	c.652G>T	NM_001048174.2	NP_001041639.1:p.(Val218Phe)	NC_000001.10:g.45798115C>A	VUS	1 lab	40bc76d121
4:42965064 GRXCR1 A>G	4	42965064	42965064	A	G	GRXCR1	c.540A>G	NM_001080476.3	NP_001073945.1:p.(Glu180=)	NC_000004.11:g.42965064A>G	VUS	1 lab	40bc80e197
4:107246136 AIMP1 C>A	4	107246136	107246136	C	A	AIMP1	c.-25-6C>A	NM_004757.4	NP_004748.2:p.?	NC_000004.11:g.107246136C>A	(Likely) benign	1 lab	1e560e825f
17:4923992 KIF1C C>T	17	4923992	4923992	C	T	KIF1C	c.1937+19C>T	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4923992C>T	(Likely) benign	1 lab	1ed46da0da
12:112819891 HECTD4 G>GGCCGCC	12	112819891	112819914	G	GGCCGCC	HECTD4	c.36_41dup	NM_001388303.1	NP_001375232.1:p.(Ala14_Ala15dup)	NC_000012.11:g.112819909_112819914dup	VUS	1 lab	40bf3bbfe2
3:151129150 MED12L T>C	3	151129150	151129150	T	C	MED12L	c.5890T>C	NM_053002.6	NP_443728.3:p.(Ser1964Pro)	NC_000003.11:g.151129150T>C	VUS	1 lab	1e56d805ed
15:89403688 ACAN C>A	15	89403688	89403688	C	A	ACAN	c.6946+18C>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89403688C>A	(Likely) benign	1 lab	40bfef9a0a
15:59465783 MYO1E T>C	15	59465783	59465783	T	C	MYO1E	c.2334+162A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59465783T>C	(Likely) benign	1 lab	1ed51cb173
19:57987128 ZNF772 G>A	19	57987128	57987128	G	A	ZNF772	c.99C>T	NM_001144068.2	NP_001137540.1:p.(Phe33=)	NC_000019.9:g.57987128G>A	VUS	1 lab	40c0034c69
6:129766967 LAMA2 G>T	6	129766967	129766967	G	T	LAMA2	c.6429+1G>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129766967G>T	(Likely) pathogenic	1 lab	40c159ac55
11:64374977 NRXN2 G>A	11	64374977	64374977	G	A	NRXN2	c.4830C>T	NM_015080.4	NP_055895.1:p.(Pro1610=)	NC_000011.9:g.64374977G>A	(Likely) benign	1 lab	40c1779805
3:136062708 STAG1 A>T	3	136062708	136062708	A	T	STAG1	c.3412T>A	NM_005862.3	NP_005853.2:p.(Ser1138Thr)	NC_000003.11:g.136062708A>T	(Likely) benign	1 lab	1e57be0425
20:40034053 CHD6 C>T	20	40034053	40034053	C	T	CHD6	c.7328G>A	NM_032221.5	NP_115597.3:p.(Gly2443Glu)	NC_000020.10:g.40034053C>T	VUS	1 lab	40c2a3cea3
14:64066471 WDR89 G>A	14	64066471	64066471	G	A	WDR89	c.190C>T	NM_080666.4	NP_542397.1:p.(Arg64Ter)	NC_000014.8:g.64066471G>A	VUS	1 lab	4164257f6d
2:71361839 MPHOSPH10 A>G	2	71361839	71361839	A	G	MPHOSPH10	c.1010A>G	NM_005791.3	NP_005782.1:p.(Asp337Gly)	NC_000002.11:g.71361839A>G	(Likely) benign	1 lab	40c2bb4542
16:5041981 SEC14L5 A>G	16	5041981	5041981	A	G	SEC14L5	c.617A>G	NM_014692.2	NP_055507.1:p.(His206Arg)	NC_000016.9:g.5041981A>G	(Likely) benign	1 lab	40c3d97b39
X:57475022 FAAH2 G>T	X	57475022	57475022	G	T	FAAH2	c.1294G>T	NM_174912.4	NP_777572.2:p.(Glu432Ter)	NC_000023.10:g.57475022G>T	(Likely) benign	1 lab	40c5d062fd
7:98506415 TRRAP G>A	7	98506415	98506415	G	A	TRRAP	c.1180G>A	NM_001375524.1	NP_001362453.1:p.(Asp394Asn)	NC_000007.13:g.98506415G>A	(Likely) pathogenic	1 lab	40c7c4ceec
1:235612075 TBCE TGAC>T	1	235612075	235612078	TGAC	T	TBCE	c.1583_*1del	NM_003193.5	NP_003184.1:p.(Ter528=)	NC_000001.10:g.235612076_235612078del	VUS	1 lab	40c9676371
16:89623338 SPG7 A>G	16	89623338	89623338	A	G	SPG7	c.2225A>G	NM_003119.4	NP_003110.1:p.(Asp742Gly)	NC_000016.9:g.89623338A>G	VUS	1 lab	40c9792b71
9:2029069 SMARCA2 C>T	9	2029069	2029069	C	T	SMARCA2	c.47C>T	NM_003070.5	NP_003061.3:p.(Ser16Leu)	NC_000009.11:g.2029069C>T	VUS	1 lab	40c9a9a8a8
6:16327918 ATXN1 C>CTGA	6	16327918	16327921	C	CTGA	ATXN1	c.623_624insTCA	NM_001128164.2	NP_001121636.1:p.(Gln207_Gln208insHis)	NC_000006.11:g.16327920_16327921insATG	(Likely) benign	1 lab	40ca7d9840
2:98914459 VWA3B C>T	2	98914459	98914459	C	T	VWA3B	c.3247C>T	NM_144992.5	NP_659429.4:p.(Pro1083Ser)	NC_000002.11:g.98914459C>T	(Likely) benign	1 lab	40ca89f29f
3:13669327 FBLN2 T>C	3	13669327	13669327	T	C	FBLN2	c.2432-5T>C	NM_001004019.2	NP_001004019.1:p.?	NC_000003.11:g.13669327T>C	(Likely) benign	1 lab	40caf6211e
19:3984324 EEF2 G>A	19	3984324	3984324	G	A	EEF2	c.28C>T	NM_001961.4	NP_001952.1:p.(Arg10Cys)	NC_000019.9:g.3984324G>A	VUS	1 lab	40cbcc3bb5
11:694967 DEAF1 CGCCGCCACAGCGGCCGCG>C	11	694967	694993	CGCCGCCACAGCGGCCGCG	C	DEAF1	c.63_80del	NM_021008.4	NP_066288.2:p.(Val25_Ala30del)	NC_000011.9:g.694976_694993del	VUS	1 lab	40ccee1a32
19:12975884 MAST1 C>T	19	12975884	12975884	C	T	MAST1	c.1530C>T	NM_014975.3	NP_055790.1:p.(His510=)	NC_000019.9:g.12975884C>T	(Likely) benign	1 lab	40ceae8e2f
18:53131376 TCF4 C>T	18	53131376	53131376	C	T	TCF4	c.146-8G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53131376C>T	(Likely) benign	1 lab	40cf0ba5c2
19:18780070 KLHL26 G>C	19	18780070	18780070	G	C	KLHL26	c.*15G>C	NM_018316.3	NP_060786.1:p.?	NC_000019.9:g.18780070G>C	(Likely) benign	1 lab	40d01981f3
16:69353434 VPS4A G>A	16	69353434	69353434	G	A	VPS4A	c.608G>A	NM_013245.3	NP_037377.1:p.(Gly203Glu)	NC_000016.9:g.69353434G>A	VUS	1 lab	40d04cf02b
X:46943961 RGN A>G	X	46943961	46943961	A	G	RGN	c.308A>G	NM_152869.4	NP_690608.1:p.(Asn103Ser)	NC_000023.10:g.46943961A>G	(Likely) benign	1 lab	40d31107e7
3:37367143 GOLGA4 C>T	3	37367143	37367143	C	T	GOLGA4	c.3766C>T	NM_002078.5	NP_002069.2:p.(Arg1256Cys)	NC_000003.11:g.37367143C>T	VUS	1 lab	40d39842ae
4:107154085 TBCK C>T	4	107154085	107154085	C	T	TBCK	c.1639+10G>A	NM_001163435.3	NP_001156907.2:p.?	NC_000004.11:g.107154085C>T	(Likely) benign	1 lab	40d507a7f0
3:62647986 CADPS T>C	3	62647986	62647986	T	C	CADPS	c.969+3A>G	NM_003716.4	NP_003707.2:p.?	NC_000003.11:g.62647986T>C	VUS	1 lab	40d7bb3ef4
1:173823017 DARS2 C>T	1	173823017	173823017	C	T	DARS2	c.1648C>T	NM_018122.5	NP_060592.2:p.(Arg550Cys)	NC_000001.10:g.173823017C>T	(Likely) benign	1 lab	40d8d4a3ac
6:117198453 RFX6 G>A	6	117198453	117198453	G	A	RFX6	c.15G>A	NM_173560.4	NP_775831.2:p.(Pro5=)	NC_000006.11:g.117198453G>A	(Likely) benign	1 lab	40d92c35d9
22:50967945 TYMP C>T	22	50967945	50967945	C	T	TYMP	c.194G>A	NM_001953.5	NP_001944.1:p.(Ser65Asn)	NC_000022.10:g.50967945C>T	(Likely) benign	1 lab	40d9caaf61
1:40769513 COL9A2 T>C	1	40769513	40769513	T	C	COL9A2	c.1369-2A>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769513T>C	VUS	1 lab	40dc8d1b28
15:40763957 CHST14 T>G	15	40763957	40763957	T	G	CHST14	c.545T>G	NM_130468.4	NP_569735.1:p.(Met182Arg)	NC_000015.9:g.40763957T>G	VUS	1 lab	40dd01a7d9
16:1306971 TPSD1 A>G	16	1306971	1306971	A	G	TPSD1	c.428A>G	NM_012217.3	NP_036349.1:p.(His143Arg)	NC_000016.9:g.1306971A>G	VUS	1 lab	40dd884dcf
12:6709185 CHD4 T>A	12	6709185	6709185	T	A	CHD4	c.1243-7A>T	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6709185T>A	(Likely) benign	1 lab	40dfc0be4e
1:33236550 NHSL3 T>TG	1	33236550	33236551	T	TG	NHSL3	c.1770_1771insG	NM_020888.3	NP_065939.2:p.(Pro591AlafsTer22)	NC_000001.10:g.33236550_33236551insG	(Likely) benign	1 lab	40dfe30b48
5:176314206 HK3 T>C	5	176314206	176314206	T	C	HK3	c.1733A>G	NM_002115.3	NP_002106.2:p.(Gln578Arg)	NC_000005.9:g.176314206T>C	(Likely) benign	1 lab	40e0ffb29a
9:135945988 CEL A>G	9	135945988	135945988	A	G	CEL	c.1427A>G	NM_001807.6	NP_001798.3:p.(Gln476Arg)	NC_000009.11:g.135945988A>G	(Likely) benign	1 lab	40e244b812
1:225328658 DNAH14 C>A	1	225328658	225328658	C	A	DNAH14	c.4443C>A	NM_001367479.1	NP_001354408.1:p.(Cys1481Ter)	NC_000001.10:g.225328658C>A	VUS	1 lab	40e3834cb5
3:12447543 PPARG C>T	3	12447543	12447543	C	T	PPARG	c.692C>T	NM_138711.6	NP_619725.3:p.(Ala231Val)	NC_000003.11:g.12447543C>T	VUS	1 lab	40e4e8b995
14:53619551 DDHD1 T>C	14	53619551	53619551	T	C	DDHD1	c.266A>G	NM_001160148.2	NP_001153620.1:p.(Tyr89Cys)	NC_000014.8:g.53619551T>C	(Likely) benign	1 lab	40e51054e8
16:50138852 HEATR3 A>T	16	50138852	50138852	A	T	HEATR3	c.1923A>T	NM_182922.4	NP_891552.1:p.(Ile641=)	NC_000016.9:g.50138852A>T	VUS	1 lab	40e5b563b5
20:61050495 GATA5 G>A	20	61050495	61050495	G	A	GATA5	c.83C>T	NM_080473.5	NP_536721.1:p.(Ala28Val)	NC_000020.10:g.61050495G>A	VUS	1 lab	40e60ad3ba
16:55525759 MMP2 G>A	16	55525759	55525759	G	A	MMP2	c.1227G>A	NM_004530.6	NP_004521.1:p.(Met409Ile)	NC_000016.9:g.55525759G>A	(Likely) benign	1 lab	40e816d03e
4:79202779 FRAS1 G>A	4	79202779	79202779	G	A	FRAS1	c.1107+192G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79202779G>A	(Likely) benign	1 lab	37a9e3f447
10:292702 ZMYND11 C>T	10	292702	292702	C	T	ZMYND11	c.951-4C>T	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.292702C>T	(Likely) benign	1 lab	40ebae2ca9
6:87928374 ZNF292 G>A	6	87928374	87928374	G	A	ZNF292	c.463G>A	NM_015021.3	NP_055836.1:p.(Ala155Thr)	NC_000006.11:g.87928374G>A	(Likely) benign	1 lab	40eea2fb52
19:39006807 RYR1 A>G	19	39006807	39006807	A	G	RYR1	c.9635A>G	NM_000540.3	NP_000531.2:p.(Glu3212Gly)	NC_000019.9:g.39006807A>G	VUS	1 lab	40ef0c14fc
2:179403540 TTN C>T	2	179403540	179403540	C	T	TTN	c.99016G>A	NM_001267550.2	NP_001254479.2:p.(Glu33006Lys)	NC_000002.11:g.179403540C>T	VUS	1 lab	40efb0d021
16:86601719 FOXC2 C>G	16	86601719	86601719	C	G	FOXC2	c.778C>G	NM_005251.3	NP_005242.1:p.(His260Asp)	NC_000016.9:g.86601719C>G	VUS	1 lab	40efbd2271
11:64496517 RASGRP2 G>T	11	64496517	64496517	G	T	RASGRP2	c.1592-3C>A	NM_001098671.2	NP_001092141.1:p.?	NC_000011.9:g.64496517G>T	(Likely) benign	1 lab	40f0cd63b3
15:31373644 TRPM1 A>T	15	31373644	31373644	A	T	TRPM1	c.-83-3T>A	NM_001252024.2	NP_001238953.1:p.?	NC_000015.9:g.31373644A>T	(Likely) benign	1 lab	40f11ed653
2:168100459 XIRP2 C>T	2	168100459	168100459	C	T	XIRP2	c.2557C>T	NM_152381.6	NP_689594.4:p.(Leu853=)	NC_000002.11:g.168100459C>T	VUS	1 lab	40f1e7913b
8:145694912 KIFC2 C>T	8	145694912	145694912	C	T	KIFC2	c.1262C>T	NM_001369769.2	NP_001356698.1:p.(Ser421Phe)	NC_000008.10:g.145694912C>T	(Likely) benign	1 lab	40f323271e
19:12814584 TNPO2 A>G	19	12814584	12814584	A	G	TNPO2	c.2054T>C	NM_001382241.1	NP_001369170.1:p.(Phe685Ser)	NC_000019.9:g.12814584A>G	VUS	1 lab	40f772ad5b
14:50760963 L2HGDH AGCTTC>A	14	50760963	50760968	AGCTTC	A	L2HGDH	c.409-4_409del	NM_024884.3	NP_079160.1:p.?	NC_000014.8:g.50760964_50760968del	(Likely) benign	1 lab	40f970d056
X:147919246 AFF2 A>G	X	147919246	147919246	A	G	AFF2	c.1162A>G	NM_002025.4	NP_002016.2:p.(Ile388Val)	NC_000023.10:g.147919246A>G	(Likely) benign	1 lab	40f9c17e30
8:145732180 GPT G>C	8	145732180	145732180	G	C	GPT	c.1354G>C	NM_005309.3	NP_005300.1:p.(Val452Leu)	NC_000008.10:g.145732180G>C	VUS	1 lab	40fa08b180
12:105534127 WASHC4 A>G	12	105534127	105534127	A	G	WASHC4	c.1508A>G	NM_015275.3	NP_056090.1:p.(His503Arg)	NC_000012.11:g.105534127A>G	VUS	1 lab	40fa16a645
6:101076989 ASCC3 G>C	6	101076989	101076989	G	C	ASCC3	c.4277C>G	NM_006828.4	NP_006819.2:p.(Thr1426Ser)	NC_000006.11:g.101076989G>C	VUS	1 lab	40fbe1cdae
4:6302886 WFS1 C>T	4	6302886	6302886	C	T	WFS1	c.1364C>T	NM_006005.3	NP_005996.2:p.(Thr455Met)	NC_000004.11:g.6302886C>T	VUS	1 lab	40fce1d586
11:17414604 ABCC8 A>T	11	17414604	17414604	A	T	ABCC8	c.4680T>A	NM_000352.6	NP_000343.2:p.(Asp1560Glu)	NC_000011.9:g.17414604A>T	VUS	1 lab	40fd0efe9e
4:114262995 ANK2 A>G	4	114262995	114262995	A	G	ANK2	c.4045A>G	NM_001148.6	NP_001139.3:p.(Met1349Val)	NC_000004.11:g.114262995A>G	VUS	1 lab	40fd735524
2:170032949 LRP2 T>G	2	170032949	170032949	T	G	LRP2	c.10543A>C	NM_004525.3	NP_004516.2:p.(Thr3515Pro)	NC_000002.11:g.170032949T>G	VUS	1 lab	40fea6170d
14:91806286 CCDC88C G>A	14	91806286	91806286	G	A	CCDC88C	c.566C>T	NM_001080414.4	NP_001073883.2:p.(Ser189Leu)	NC_000014.8:g.91806286G>A	VUS	1 lab	40feb2abfe
9:43628146 SPATA31A6 G>C	9	43628146	43628146	G	C	SPATA31A6	c.541C>G	NM_001145196.1	NP_001138668.1:p.(Leu181Val)	NC_000009.11:g.43628146G>C	VUS	1 lab	40ff33d85d
17:79171959 CEP131 G>A	17	79171959	79171959	G	A	CEP131	c.1426C>T	NM_014984.4	NP_055799.2:p.(Arg476Cys)	NC_000017.10:g.79171959G>A	(Likely) benign	1 lab	4100b39156
12:14995964 ART4 TCCAAGGAGCCAG>T	12	14995964	14995976	TCCAAGGAGCCAG	T	ART4	c.72_83del	NM_021071.4	NP_066549.2:p.(Trp25_Gly28del)	NC_000012.11:g.14995965_14995976del	VUS	1 lab	4100d3081c
17:56056606 VEZF1 GC>G	17	56056606	56056607	GC	G	VEZF1	c.1044del	NM_007146.3	NP_009077.2:p.(Gln348HisfsTer9)	NC_000017.10:g.56056607del	VUS	1 lab	410282683e
5:176721966 NSD1 C>T	5	176721966	176721966	C	T	NSD1	c.7597C>T	NM_022455.5	NP_071900.2:p.(Leu2533Phe)	NC_000005.9:g.176721966C>T	VUS	1 lab	4102dc677c
1:981942 AGRN C>A	1	981942	981942	C	A	AGRN	c.3077C>A	NM_198576.4	NP_940978.2:p.(Thr1026Asn)	NC_000001.10:g.981942C>A	(Likely) benign	1 lab	41036cbb38
8:61750797 CHD7 G>A	8	61750797	61750797	G	A	CHD7	c.4516G>A	NM_017780.4	NP_060250.2:p.(Gly1506Ser)	NC_000008.10:g.61750797G>A	VUS	1 lab	4104de9e2a
17:7751162 KDM6B T>C	17	7751162	7751162	T	C	KDM6B	c.1556T>C	NM_001348716.2	NP_001335645.1:p.(Leu519Pro)	NC_000017.10:g.7751162T>C	(Likely) benign	1 lab	4104f8a44e
19:46915250 CCDC8 G>A	19	46915250	46915250	G	A	CCDC8	c.818C>T	NM_032040.5	NP_114429.2:p.(Ser273Phe)	NC_000019.9:g.46915250G>A	(Likely) benign	1 lab	4105e27c51
1:153750664 SLC27A3 C>T	1	153750664	153750664	C	T	SLC27A3	c.1189C>T	NM_024330.4	NP_077306.3:p.(Arg397Trp)	NC_000001.10:g.153750664C>T	VUS	1 lab	41067a15d0
X:80370569 HMGN5 T>G	X	80370569	80370569	T	G	HMGN5	c.428A>C	NM_030763.3	NP_110390.1:p.(Glu143Ala)	NC_000023.10:g.80370569T>G	VUS	1 lab	4107f1f668
X:118109171 LONRF3 CCGCCGCGGCT>C	X	118109171	118109181	CCGCCGCGGCT	C	LONRF3	c.429_438del	NM_001031855.3	NP_001027026.1:p.(Ala144ArgfsTer56)	NC_000023.10:g.118109172_118109181del	VUS	1 lab	410e68f0a3
10:17157612 CUBN G>A	10	17157612	17157612	G	A	CUBN	c.594-16C>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17157612G>A	(Likely) benign	1 lab	1ed594fedc
12:53343084 KRT18 G>T	12	53343084	53343084	G	T	KRT18	c.127G>T	NM_000224.3	NP_000215.1:p.(Gly43Cys)	NC_000012.11:g.53343084G>T	VUS	1 lab	411194959b
15:90213238 PLIN1 G>T	15	90213238	90213238	G	T	PLIN1	c.571C>A	NM_002666.5	NP_002657.3:p.(Leu191Ile)	NC_000015.9:g.90213238G>T	(Likely) benign	1 lab	41139d627b
8:124382152 ATAD2 ATCATCT>A	8	124382152	124382163	ATCATCT	A	ATAD2	c.834_839del	NM_014109.4	NP_054828.2:p.(Glu278_Asp279del)	NC_000008.10:g.124382158_124382163del	(Likely) benign	1 lab	4113f03bb4
1:103488342 COL11A1 A>G	1	103488342	103488342	A	G	COL11A1	c.1201T>C	NM_001854.4	NP_001845.3:p.(Phe401Leu)	NC_000001.10:g.103488342A>G	VUS	1 lab	4114767e9f
11:6644638 DCHS1 C>T	11	6644638	6644638	C	T	DCHS1	c.8269G>A	NM_003737.4	NP_003728.1:p.(Ala2757Thr)	NC_000011.9:g.6644638C>T	(Likely) benign	1 lab	41158e4792
1:22848867 ZBTB40 C>T	1	22848867	22848867	C	T	ZBTB40	c.3212-3C>T	NM_014870.4	NP_055685.3:p.?	NC_000001.10:g.22848867C>T	(Likely) benign	1 lab	411615655b
2:121747676 GLI2 G>A	2	121747676	121747676	G	A	GLI2	c.4135G>A	NM_001374353.1	NP_001361282.1:p.(Ala1379Thr)	NC_000002.11:g.121747676G>A	(Likely) benign	1 lab	41162cf0d8
5:177421243 PROP1 C>T	5	177421243	177421243	C	T	PROP1	c.206G>A	NM_006261.5	NP_006252.4:p.(Arg69Gln)	NC_000005.9:g.177421243C>T	VUS	1 lab	41172a31d8
4:128605646 INTU G>T	4	128605646	128605646	G	T	INTU	c.1259+5G>T	NM_015693.4	NP_056508.2:p.?	NC_000004.11:g.128605646G>T	VUS	1 lab	411825f93d
4:155253964 DCHS2 C>T	4	155253964	155253964	C	T	DCHS2	c.3396G>A	NM_001358235.2	NP_001345164.1:p.(Met1132Ile)	NC_000004.11:g.155253964C>T	VUS	1 lab	411918a4ed
15:101718447 CHSY1 G>T	15	101718447	101718447	G	T	CHSY1	c.1555C>A	NM_014918.5	NP_055733.2:p.(Leu519Ile)	NC_000015.9:g.101718447G>T	(Likely) benign	1 lab	41193539b5
11:108382966 EXPH5 G>C	11	108382966	108382966	G	C	EXPH5	c.3268C>G	NM_015065.3	NP_055880.2:p.(Leu1090Val)	NC_000011.9:g.108382966G>C	(Likely) benign	1 lab	4119993285
11:108017823 ACAT1 C>G	11	108017823	108017823	C	G	ACAT1	c.1164-174C>G	NM_000019.4	NP_000010.1:p.?	NC_000011.9:g.108017823C>G	(Likely) benign	1 lab	411a68594c
X:153577775 FLNA A>G	X	153577775	153577775	A	G	FLNA	c.7711T>C	NM_001110556.2	NP_001104026.1:p.(Tyr2571His)	NC_000023.10:g.153577775A>G	VUS	1 lab	411bfd135d
7:78636417 MAGI2 C>T	7	78636417	78636417	C	T	MAGI2	c.407G>A	NM_012301.4	NP_036433.2:p.(Arg136His)	NC_000007.13:g.78636417C>T	VUS	1 lab	411d081d86
4:187122304 CYP4V2 C>T	4	187122304	187122304	C	T	CYP4V2	c.802-7C>T	NM_207352.4	NP_997235.3:p.?	NC_000004.11:g.187122304C>T	(Likely) benign	1 lab	1e59098fed
1:8416214 RERE G>A	1	8416214	8416214	G	A	RERE	c.4432C>T	NM_001042681.2	NP_001036146.1:p.(Pro1478Ser)	NC_000001.10:g.8416214G>A	VUS	1 lab	4120116004
6:34949530 ANKS1A G>T	6	34949530	34949530	G	T	ANKS1A	c.499G>T	NM_015245.3	NP_056060.2:p.(Val167Leu)	NC_000006.11:g.34949530G>T	(Likely) benign	1 lab	41205e7994
9:139402764 NOTCH1 C>A	9	139402764	139402764	C	A	NOTCH1	c.3245G>T	NM_017617.5	NP_060087.3:p.(Arg1082Leu)	NC_000009.11:g.139402764C>A	(Likely) benign	1 lab	4120e48e8f
19:2917613 ZNF57 G>A	19	2917613	2917613	G	A	ZNF57	c.994G>A	NM_173480.3	NP_775751.1:p.(Gly332Arg)	NC_000019.9:g.2917613G>A	(Likely) benign	1 lab	41212a6926
6:149699333 TAB2 A>G	6	149699333	149699333	A	G	TAB2	c.282A>G	NM_001292034.3	NP_001278963.1:p.(Gly94=)	NC_000006.11:g.149699333A>G	(Likely) benign	1 lab	412248e6f4
9:100843371 NANS C>G	9	100843371	100843371	C	G	NANS	c.870+7C>G	NM_018946.4	NP_061819.2:p.?	NC_000009.11:g.100843371C>G	(Likely) benign	1 lab	41226a2030
6:32038108 TNXB G>A	6	32038108	32038108	G	A	TNXB	c.5074C>T	NM_001365276.2	NP_001352205.1:p.(Leu1692Phe)	NC_000006.11:g.32038108G>A	VUS	1 lab	4123e28f49
3:4856911 ITPR1 C>T	3	4856911	4856911	C	T	ITPR1	c.7867+9C>T	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4856911C>T	(Likely) benign	1 lab	412533ae99
16:30747627 SRCAP C>T	16	30747627	30747627	C	T	SRCAP	c.6836C>T	NM_006662.3	NP_006653.2:p.(Ala2279Val)	NC_000016.9:g.30747627C>T	(Likely) benign	1 lab	41256a739b
9:131085138 COQ4 A>T	9	131085138	131085138	A	T	COQ4	c.1A>T	NM_016035.5	NP_057119.3:p.(Met1?)	NC_000009.11:g.131085138A>T	VUS	1 lab	4125ba6324
20:50408027 SALL4 C>T	20	50408027	50408027	C	T	SALL4	c.995G>A	NM_020436.5	NP_065169.1:p.(Ser332Asn)	NC_000020.10:g.50408027C>T	(Likely) benign	1 lab	4125c6f55e
11:65487707 RNASEH2C G>A	11	65487707	65487707	G	A	RNASEH2C	c.348+6C>T	NM_032193.4	NP_115569.2:p.?	NC_000011.9:g.65487707G>A	VUS	1 lab	41281e419f
8:144892774 SCRIB C>T	8	144892774	144892774	C	T	SCRIB	c.1405G>A	NM_182706.5	NP_874365.3:p.(Gly469Ser)	NC_000008.10:g.144892774C>T	VUS	1 lab	412931b55c
4:10447155 ZNF518B A>T	4	10447155	10447155	A	T	ZNF518B	c.798T>A	NM_053042.3	NP_444270.2:p.(His266Gln)	NC_000004.11:g.10447155A>T	(Likely) benign	1 lab	4129f768e8
16:15841957 MYH11 G>A	16	15841957	15841957	G	A	MYH11	c.2127C>T	NM_002474.3	NP_002465.1:p.(Arg709=)	NC_000016.9:g.15841957G>A	(Likely) benign	1 lab	412a115f8e
19:38621330 SIPA1L3 G>A	19	38621330	38621330	G	A	SIPA1L3	c.3061G>A	NM_015073.3	NP_055888.1:p.(Asp1021Asn)	NC_000019.9:g.38621330G>A	(Likely) benign	1 lab	412b099010
15:74927840 EDC3 G>T	15	74927840	74927840	G	T	EDC3	c.1102C>A	NM_025083.5	NP_079359.2:p.(Leu368Met)	NC_000015.9:g.74927840G>T	VUS	1 lab	412cfc56dc
18:47777939 CFAP53 G>A	18	47777939	47777939	G	A	CFAP53	c.689C>T	NM_145020.5	NP_659457.2:p.(Thr230Ile)	NC_000018.9:g.47777939G>A	(Likely) benign	1 lab	412d86c2d2
17:79813161 P4HB T>C	17	79813161	79813161	T	C	P4HB	c.487-6A>G	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79813161T>C	(Likely) benign	1 lab	412dc7dac7
11:63978739 FERMT3 C>A	11	63978739	63978739	C	A	FERMT3	c.515-8C>A	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63978739C>A	(Likely) benign	1 lab	412f073e38
1:201289498 PKP1 T>C	1	201289498	201289498	T	C	PKP1	c.1399T>C	NM_000299.4	NP_000290.2:p.(Cys467Arg)	NC_000001.10:g.201289498T>C	(Likely) benign	1 lab	1e5a161d87
15:90172206 KIF7 C>T	15	90172206	90172206	C	T	KIF7	c.3664+1G>A	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90172206C>T	VUS	1 lab	41359a7e85
3:183881504 DVL3 TGG>T	3	183881504	183881506	TGG	T	DVL3	c.222_223del	NM_004423.4	NP_004414.3:p.(Ser76LeufsTer6)	NC_000003.11:g.183881505_183881506del	VUS	1 lab	41363342c5
15:28228612 OCA2 T>C	15	28228612	28228612	T	C	OCA2	c.1382A>G	NM_000275.3	NP_000266.2:p.(Asn461Ser)	NC_000015.9:g.28228612T>C	VUS	1 lab	4136d0a9b9
1:22200430 HSPG2 C>T	1	22200430	22200430	C	T	HSPG2	c.3731G>A	NM_005529.7	NP_005520.4:p.(Arg1244His)	NC_000001.10:g.22200430C>T	VUS	1 lab	4137181d19
22:18314651 MICAL3 GTCC>G	22	18314651	18314668	GTCC	G	MICAL3	c.3021_3023del	NM_015241.3	NP_056056.2:p.(Glu1007del)	NC_000022.10:g.18314666_18314668del	(Likely) benign	1 lab	4137767882
14:68264895 ZFYVE26 T>C	14	68264895	68264895	T	C	ZFYVE26	c.2084A>G	NM_015346.4	NP_056161.2:p.(Gln695Arg)	NC_000014.8:g.68264895T>C	VUS	1 lab	41379637a0
12:56088579 ITGA7 G>A	12	56088579	56088579	G	A	ITGA7	c.2179C>T	NM_002206.3	NP_002197.2:p.(Arg727Trp)	NC_000012.11:g.56088579G>A	VUS	1 lab	4138b7108e
22:50566864 MOV10L1 C>T	22	50566864	50566864	C	T	MOV10L1	c.1838C>T	NM_018995.3	NP_061868.1:p.(Thr613Ile)	NC_000022.10:g.50566864C>T	VUS	1 lab	4138f3eb3a
2:238274385 COL6A3 C>T	2	238274385	238274385	C	T	COL6A3	c.5794G>A	NM_004369.4	NP_004360.2:p.(Val1932Ile)	NC_000002.11:g.238274385C>T	VUS	1 lab	4139dc4509
3:38991569 SCN11A C>T	3	38991569	38991569	C	T	SCN11A	c.267+18G>A	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38991569C>T	(Likely) benign	1 lab	1ed6f1af5d
2:240912967 NDUFA10 C>CACGATCAGCTTCAAGGAGGGA	2	240912967	240913030	C	CACGATCAGCTTCAAGGAGGGA	NDUFA10	c.1000-12385_1000-12365dup	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240913010_240913030dup	VUS	1 lab	413bd34769
19:15290214 NOTCH3 C>T	19	15290214	15290214	C	T	NOTCH3	c.3421G>A	NM_000435.3	NP_000426.2:p.(Val1141Met)	NC_000019.9:g.15290214C>T	VUS	1 lab	413de7d312
6:35200998 SCUBE3 C>T	6	35200998	35200998	C	T	SCUBE3	c.632C>T	NM_152753.4	NP_689966.2:p.(Thr211Met)	NC_000006.11:g.35200998C>T	VUS	1 lab	413ec97cac
13:21557708 LATS2 C>T	13	21557708	21557708	C	T	LATS2	c.2137G>A	NM_014572.3	NP_055387.2:p.(Val713Ile)	NC_000013.10:g.21557708C>T	VUS	1 lab	413ef55eab
5:112175715 APC C>T	5	112175715	112175715	C	T	APC	c.4424C>T	NM_000038.6	NP_000029.2:p.(Ala1475Val)	NC_000005.9:g.112175715C>T	VUS	1 lab	413fabdf71
13:110866353 COL4A1 C>T	13	110866353	110866353	C	T	COL4A1	c.154G>A	NM_001845.6	NP_001836.3:p.(Gly52Ser)	NC_000013.10:g.110866353C>T	(Likely) pathogenic	1 lab	413fb8009d
17:12655857 MYOCD A>G	17	12655857	12655857	A	G	MYOCD	c.1252A>G	NM_001146312.3	NP_001139784.1:p.(Ile418Val)	NC_000017.10:g.12655857A>G	(Likely) benign	1 lab	41427b5bb2
16:89718017 CHMP1A G>A	16	89718017	89718017	G	A	CHMP1A	c.65C>T	NM_002768.5	NP_002759.2:p.(Ala22Val)	NC_000016.9:g.89718017G>A	VUS	1 lab	4143ce25c7
12:116457090 MED13L C>T	12	116457090	116457090	C	T	MED13L	c.948G>A	NM_015335.5	NP_056150.1:p.(Lys316=)	NC_000012.11:g.116457090C>T	(Likely) benign	1 lab	4144698701
18:8825220 MTCL1 T>A	18	8825220	8825220	T	A	MTCL1	c.4792T>A	NM_001395333.1	NP_001382262.1:p.(Trp1598Arg)	NC_000018.9:g.8825220T>A	(Likely) benign	1 lab	4146d302db
22:41546131 EP300 T>A	22	41546131	41546131	T	A	EP300	c.2746T>A	NM_001429.4	NP_001420.2:p.(Ser916Thr)	NC_000022.10:g.41546131T>A	VUS	1 lab	4148f055d1
17:78064077 CCDC40 A>C	17	78064077	78064077	A	C	CCDC40	c.2832+394A>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064077A>C	VUS	1 lab	4149362c10
16:3024565 PKMYT1 G>A	16	3024565	3024565	G	A	PKMYT1	c.965C>T	NM_004203.5	NP_004194.3:p.(Pro322Leu)	NC_000016.9:g.3024565G>A	(Likely) benign	1 lab	41495a86d2
22:36681311 MYH9 C>T	22	36681311	36681311	C	T	MYH9	c.5339G>A	NM_002473.6	NP_002464.1:p.(Arg1780Gln)	NC_000022.10:g.36681311C>T	(Likely) benign	1 lab	4149dc2a4d
16:30735148 SRCAP C>T	16	30735148	30735148	C	T	SRCAP	c.4403C>T	NM_006662.3	NP_006653.2:p.(Ser1468Leu)	NC_000016.9:g.30735148C>T	(Likely) benign	1 lab	414a188bfb
11:65308400 LTBP3 G>C	11	65308400	65308400	G	C	LTBP3	c.2919C>G	NM_001130144.3	NP_001123616.1:p.(Asp973Glu)	NC_000011.9:g.65308400G>C	VUS	1 lab	414a6e7347
3:81643073 GBE1 T>C	3	81643073	81643073	T	C	GBE1	c.1094A>G	NM_000158.4	NP_000149.4:p.(His365Arg)	NC_000003.11:g.81643073T>C	VUS	1 lab	414aca95ff
12:11546858 PRB2 A>G	12	11546858	11546858	A	G	PRB2	c.154T>C	NM_006248.4	NP_006239.3:p.(Ser52Pro)	NC_000012.11:g.11546858A>G	VUS	1 lab	414c0a3c63
17:62038546 SCN4A T>C	17	62038546	62038546	T	C	SCN4A	c.1845+7A>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62038546T>C	(Likely) benign	1 lab	4150ad93d8
3:124377326 KALRN T>G	3	124377326	124377326	T	G	KALRN	c.6085T>G	NM_001388419.1	NP_001375348.1:p.(Ser2029Ala)	NC_000003.11:g.124377326T>G	(Likely) benign	1 lab	4150cb978c
19:2115577 AP3D1 G>A	19	2115577	2115577	G	A	AP3D1	c.2109C>T	NM_001261826.3	NP_001248755.1:p.(Pro703=)	NC_000019.9:g.2115577G>A	(Likely) benign	1 lab	1ed7ec9c24
X:70357201 MED12 C>G	X	70357201	70357201	C	G	MED12	c.5716C>G	NM_005120.3	NP_005111.2:p.(Pro1906Ala)	NC_000023.10:g.70357201C>G	(Likely) benign	1 lab	4151a5b685
19:50918799 POLD1 C>T	19	50918799	50918799	C	T	POLD1	c.2669C>T	NM_002691.4	NP_002682.2:p.(Ala890Val)	NC_000019.9:g.50918799C>T	VUS	1 lab	4152db662d
10:97444281 TCTN3 T>C	10	97444281	97444281	T	C	TCTN3	c.1070A>G	NM_015631.6	NP_056446.4:p.(Gln357Arg)	NC_000010.10:g.97444281T>C	VUS	1 lab	4152f7e465
16:3634850 SLX4 GTTC>G	16	3634850	3634859	GTTC	G	SLX4	c.4656_4658del	NM_032444.4	NP_115820.2:p.(Lys1552del)	NC_000016.9:g.3634857_3634859del	VUS	1 lab	41535b61bd
2:88913257 EIF2AK3 G>T	2	88913257	88913257	G	T	EIF2AK3	c.423C>A	NM_004836.7	NP_004827.4:p.(Ser141Arg)	NC_000002.11:g.88913257G>T	VUS	1 lab	4153fcbd0f
4:119253022 PRSS12 C>T	4	119253022	119253022	C	T	PRSS12	c.821-1G>A	NM_003619.4	NP_003610.2:p.?	NC_000004.11:g.119253022C>T	(Likely) benign	1 lab	41544f1159
12:122018771 KDM2B G>A	12	122018771	122018771	G	A	KDM2B	c.46C>T	NM_032590.5	NP_115979.3:p.(Arg16Ter)	NC_000012.11:g.122018771G>A	VUS	1 lab	41562ff8fc
X:92927794 NAP1L3 C>A	X	92927794	92927794	C	A	NAP1L3	c.510G>T	NM_004538.6	NP_004529.2:p.(Glu170Asp)	NC_000023.10:g.92927794C>A	VUS	1 lab	415776c507
1:237890422 RYR2 G>C	1	237890422	237890422	G	C	RYR2	c.10761G>C	NM_001035.3	NP_001026.2:p.(Trp3587Cys)	NC_000001.10:g.237890422G>C	VUS	1 lab	41580a3d20
16:85689444 GSE1 G>A	16	85689444	85689444	G	A	GSE1	c.910G>A	NM_014615.5	NP_055430.1:p.(Val304Ile)	NC_000016.9:g.85689444G>A	VUS	1 lab	4159e842c0
13:110857738 COL4A1 G>A	13	110857738	110857738	G	A	COL4A1	c.919C>T	NM_001845.6	NP_001836.3:p.(Pro307Ser)	NC_000013.10:g.110857738G>A	(Likely) benign	1 lab	415b316ce8
12:12303761 LRP6 C>T	12	12303761	12303761	C	T	LRP6	c.2994+9G>A	NM_002336.3	NP_002327.2:p.?	NC_000012.11:g.12303761C>T	(Likely) benign	1 lab	415bde3652
16:19063036 TMC7 C>A	16	19063036	19063036	C	A	TMC7	c.1769C>A	NM_024847.4	NP_079123.3:p.(Ser590Tyr)	NC_000016.9:g.19063036C>A	VUS	1 lab	415c19ce82
14:34270169 NPAS3 G>A	14	34270169	34270169	G	A	NPAS3	c.2656G>A	NM_001164749.2	NP_001158221.1:p.(Gly886Ser)	NC_000014.8:g.34270169G>A	VUS	1 lab	415c2b05f1
16:2168103 PKD1 G>C	16	2168103	2168103	G	C	PKD1	c.890C>G	NM_001009944.3	NP_001009944.3:p.(Pro297Arg)	NC_000016.9:g.2168103G>C	VUS	1 lab	415d67f841
17:40690418 NAGLU T>A	17	40690418	40690418	T	A	NAGLU	c.593T>A	NM_000263.4	NP_000254.2:p.(Phe198Tyr)	NC_000017.10:g.40690418T>A	VUS	1 lab	415d79c7aa
16:30976481 SETD1A C>T	16	30976481	30976481	C	T	SETD1A	c.1418C>T	NM_014712.3	NP_055527.1:p.(Pro473Leu)	NC_000016.9:g.30976481C>T	(Likely) benign	1 lab	415f4bb7a1
19:42799176 CIC G>T	19	42799176	42799176	G	T	CIC	c.7387G>T	NM_001386298.1	NP_001373227.1:p.(Ala2463Ser)	NC_000019.9:g.42799176G>T	(Likely) benign	1 lab	415fe48ac3
1:46662506 POMGNT1 C>A	1	46662506	46662506	C	A	POMGNT1	c.251G>T	NM_017739.4	NP_060209.4:p.(Arg84Leu)	NC_000001.10:g.46662506C>A	VUS	1 lab	416563928b
1:145349646 NBPF10 G>A	1	145349646	145349646	G	A	NBPF10	c.7793G>A	NM_001302371.3	NP_001289300.1:p.(Cys2598Tyr)	NC_000001.10:g.145349646G>A	(Likely) benign	1 lab	4165ad2f9c
9:139749479 MAMDC4 G>A	9	139749479	139749479	G	A	MAMDC4	c.1114G>A	NM_206920.3	NP_996803.2:p.(Val372Ile)	NC_000009.11:g.139749479G>A	(Likely) benign	1 lab	4166683442
3:7494419 GRM7 C>T	3	7494419	7494419	C	T	GRM7	c.1300C>T	NM_000844.4	NP_000835.1:p.(Arg434Trp)	NC_000003.11:g.7494419C>T	VUS	1 lab	416819da9b
15:69709737 KIF23 C>T	15	69709737	69709737	C	T	KIF23	c.97C>T	NM_001367805.3	NP_001354734.1:p.(Arg33Cys)	NC_000015.9:g.69709737C>T	VUS	1 lab	41684e7f1a
2:48032823 MSH6 C>A	2	48032823	48032823	C	A	MSH6	c.3623C>A	NM_000179.3	NP_000170.1:p.(Ser1208Tyr)	NC_000002.11:g.48032823C>A	VUS	1 lab	4168a42c22
16:90103716 DRC4 G>A	16	90103716	90103716	G	A	DRC4	c.833G>A	NM_001481.3	NP_001472.1:p.(Arg278His)	NC_000016.9:g.90103716G>A	(Likely) benign	1 lab	4168b590de
2:74326537 TET3 G>A	2	74326537	74326537	G	A	TET3	c.3402G>A	NM_001287491.2	NP_001274420.1:p.(Val1134=)	NC_000002.11:g.74326537G>A	VUS	1 lab	416a1334ab
3:38595957 SCN5A C>A	3	38595957	38595957	C	A	SCN5A	c.4626G>T	NM_198056.3	NP_932173.1:p.(Met1542Ile)	NC_000003.11:g.38595957C>A	VUS	1 lab	1e600bf4cf
11:47600811 NDUFS3 C>T	11	47600811	47600811	C	T	NDUFS3	c.68-10C>T	NM_004551.3	NP_004542.1:p.?	NC_000011.9:g.47600811C>T	(Likely) benign	1 lab	1e64ef1560
X:66765158 AR T>TGCAGCAGCAGCAGCAGCAGCAGCAGCA	X	66765158	66765227	T	TGCAGCAGCAGCAGCAGCAGCAGCAGCA	AR	c.213_239dup	NM_000044.6	NP_000035.2:p.(Gln72_Gln80dup)	NC_000023.10:g.66765201_66765227dup	VUS	1 lab	416d58608e
11:17436901 ABCC8 GA>G	11	17436901	17436904	GA	G	ABCC8	c.2256-16del	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17436904del	(Likely) benign	1 lab	416f240f99
X:115574918 SLC6A14 A>C	X	115574918	115574918	A	C	SLC6A14	c.616A>C	NM_007231.5	NP_009162.1:p.(Ile206Leu)	NC_000023.10:g.115574918A>C	VUS	1 lab	41712d802f
16:30990730 SETD1A G>T	16	30990730	30990730	G	T	SETD1A	c.3623G>T	NM_014712.3	NP_055527.1:p.(Arg1208Leu)	NC_000016.9:g.30990730G>T	(Likely) benign	1 lab	417185f7d2
6:152443677 SYNE1 C>T	6	152443677	152443677	C	T	SYNE1	c.26288G>A	NM_182961.4	NP_892006.3:p.(Cys8763Tyr)	NC_000006.11:g.152443677C>T	VUS	1 lab	4171e1b489
3:195507358 MUC4 G>T	3	195507358	195507358	G	T	MUC4	c.11093C>A	NM_018406.7	NP_060876.5:p.(Pro3698His)	NC_000003.11:g.195507358G>T	(Likely) benign	1 lab	41764db6b7
2:130940017 MZT2B C>A	2	130940017	130940017	C	A	MZT2B	c.162C>A	NM_025029.5	NP_079305.2:p.(Asp54Glu)	NC_000002.11:g.130940017C>A	VUS	1 lab	41768fc89e
16:30097589 TBX6 G>A	16	30097589	30097589	G	A	TBX6	c.1268C>T	NM_004608.4	NP_004599.2:p.(Ala423Val)	NC_000016.9:g.30097589G>A	(Likely) benign	1 lab	4177a7cc44
X:48340897 FTSJ1 G>A	X	48340897	48340897	G	A	FTSJ1	c.759+3G>A	NM_012280.4	NP_036412.1:p.?	NC_000023.10:g.48340897G>A	(Likely) benign	1 lab	4178246554
12:132334430 MMP17 G>A	12	132334430	132334430	G	A	MMP17	c.1288G>A	NM_016155.7	NP_057239.4:p.(Gly430Ser)	NC_000012.11:g.132334430G>A	(Likely) benign	1 lab	4179376165
2:71778843 DYSF G>A	2	71778843	71778843	G	A	DYSF	c.1799G>A	NM_001130987.2	NP_001124459.1:p.(Arg600Gln)	NC_000002.11:g.71778843G>A	VUS	1 lab	4179fbfba1
5:140865466 PCDHGC3 C>G	5	140865466	140865466	C	G	PCDHGC3	c.2430+7353C>G	NM_002588.4	NP_002579.2:p.?	NC_000005.9:g.140865466C>G	VUS	1 lab	417a8c2cc4
1:74797140 TNNI3K G>C	1	74797140	74797140	G	C	TNNI3K	c.451G>C	NM_015978.3	NP_057062.1:p.(Asp151His)	NC_000001.10:g.74797140G>C	(Likely) benign	1 lab	417aac8e30
18:19751656 GATA6 G>A	18	19751656	19751656	G	A	GATA6	c.551G>A	NM_005257.6	NP_005248.2:p.(Ser184Asn)	NC_000018.9:g.19751656G>A	VUS	1 lab	41b2a9656e
12:118016999 KSR2 G>A	12	118016999	118016999	G	A	KSR2	c.1250C>T	NM_173598.6	NP_775869.4:p.(Thr417Ile)	NC_000012.11:g.118016999G>A	(Likely) benign	1 lab	417abf75fd
6:110112779 FIG4 G>A	6	110112779	110112779	G	A	FIG4	c.2376+5G>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110112779G>A	VUS	1 lab	417afec1a4
17:80137012 CCDC57 T>A	17	80137012	80137012	T	A	CCDC57	c.1265A>T	NM_001394669.1	NP_001381598.1:p.(Asp422Val)	NC_000017.10:g.80137012T>A	(Likely) benign	1 lab	417b28ceaf
7:45123817 NACAD CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT>C	7	45123817	45123942	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C	NACAD	c.1842_1961del	NM_001146334.2	NP_001139806.1:p.(Ile625_Thr664del)	NC_000007.13:g.45123823_45123942del	(Likely) benign	1 lab	417bb4120c
12:9085564 PHC1 C>G	12	9085564	9085564	C	G	PHC1	c.1511C>G	NM_004426.3	NP_004417.2:p.(Pro504Arg)	NC_000012.11:g.9085564C>G	VUS	1 lab	417bc2e098
1:154705571 KCNN3 G>C	1	154705571	154705571	G	C	KCNN3	c.1498C>G	NM_002249.6	NP_002240.3:p.(Leu500Val)	NC_000001.10:g.154705571G>C	VUS	1 lab	417bf4f710
11:66466507 SPTBN2 G>A	11	66466507	66466507	G	A	SPTBN2	c.3823C>T	NM_006946.4	NP_008877.2:p.(Arg1275Trp)	NC_000011.9:g.66466507G>A	(Likely) benign	1 lab	417ca62567
8:99139898 POP1 A>G	8	99139898	99139898	A	G	POP1	c.218A>G	NM_001145860.2	NP_001139332.1:p.(Glu73Gly)	NC_000008.10:g.99139898A>G	VUS	1 lab	417df983b2
17:42927723 EFTUD2 G>A	17	42927723	42927723	G	A	EFTUD2	c.*919C>T	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42927723G>A	(Likely) benign	1 lab	417e81eac1
19:42795016 CIC C>T	19	42795016	42795016	C	T	CIC	c.4823C>T	NM_001386298.1	NP_001373227.1:p.(Ala1608Val)	NC_000019.9:g.42795016C>T	(Likely) benign	1 lab	417e9bc2cd
7:91603059 AKAP9 A>G	7	91603059	91603059	A	G	AKAP9	c.83A>G	NM_005751.5	NP_005742.4:p.(Asp28Gly)	NC_000007.13:g.91603059A>G	VUS	1 lab	418038f3fc
2:182543137 NEUROD1 A>G	2	182543137	182543137	A	G	NEUROD1	c.451T>C	NM_002500.5	NP_002491.3:p.(Trp151Arg)	NC_000002.11:g.182543137A>G	VUS	1 lab	41814ecdff
3:122634371 SEMA5B C>T	3	122634371	122634371	C	T	SEMA5B	c.1904G>A	NM_001031702.4	NP_001026872.2:p.(Arg635Gln)	NC_000003.11:g.122634371C>T	(Likely) benign	1 lab	41826bab11
X:119243177 RHOXF1 G>T	X	119243177	119243177	G	T	RHOXF1	c.528C>A	NM_139282.3	NP_644811.1:p.(Asp176Glu)	NC_000023.10:g.119243177G>T	(Likely) benign	1 lab	41831cdb75
5:1409133 SLC6A3 G>A	5	1409133	1409133	G	A	SLC6A3	c.1498+8C>T	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1409133G>A	(Likely) benign	1 lab	4184465993
8:145738799 RECQL4 C>T	8	145738799	145738799	C	T	RECQL4	c.2266G>A	NM_004260.4	NP_004251.4:p.(Val756Ile)	NC_000008.10:g.145738799C>T	VUS	1 lab	418495003e
18:60036590 TNFRSF11A TGAA>T	18	60036590	60036600	TGAA	T	TNFRSF11A	c.1448_1450del	NM_003839.4	NP_003830.1:p.(Glu483del)	NC_000018.9:g.60036598_60036600del	VUS	1 lab	4185d033b8
22:20780269 SCARF2 A>G	22	20780269	20780269	A	G	SCARF2	c.1994T>C	NM_182895.5	NP_878315.2:p.(Val665Ala)	NC_000022.10:g.20780269A>G	VUS	1 lab	4186270035
X:17737462 NHS A>AGTT	X	17737462	17737465	A	AGTT	NHS	c.853-1_854dup	NM_001291867.2	NP_001278796.1:p.?	NC_000023.10:g.17737463_17737465dup	VUS	1 lab	4186ba4c7a
19:8196620 FBN3 G>T	19	8196620	8196620	G	T	FBN3	c.1808C>A	NM_032447.5	NP_115823.3:p.(Ala603Glu)	NC_000019.9:g.8196620G>T	VUS	1 lab	4189051729
5:148407253 SH3TC2 T>A	5	148407253	148407253	T	A	SH3TC2	c.2042A>T	NM_024577.4	NP_078853.2:p.(Asp681Val)	NC_000005.9:g.148407253T>A	VUS	1 lab	418aebb415
19:48947132 GRIN2D G>A	19	48947132	48947132	G	A	GRIN2D	c.3949G>A	NM_000836.4	NP_000827.2:p.(Gly1317Ser)	NC_000019.9:g.48947132G>A	VUS	1 lab	418cc8dac1
2:179584467 TTN G>A	2	179584467	179584467	G	A	TTN	c.23752C>T	NM_001267550.2	NP_001254479.2:p.(Leu7918Phe)	NC_000002.11:g.179584467G>A	(Likely) benign	1 lab	418ccb8079
1:112298575 DDX20 C>T	1	112298575	112298575	C	T	DDX20	c.29C>T	NM_007204.5	NP_009135.4:p.(Ala10Val)	NC_000001.10:g.112298575C>T	(Likely) benign	1 lab	418ce03a59
14:50736030 L2HGDH G>C	14	50736030	50736030	G	C	L2HGDH	c.757C>G	NM_024884.3	NP_079160.1:p.(Gln253Glu)	NC_000014.8:g.50736030G>C	VUS	1 lab	418d325929
15:90213360 PLIN1 C>T	15	90213360	90213360	C	T	PLIN1	c.449G>A	NM_002666.5	NP_002657.3:p.(Cys150Tyr)	NC_000015.9:g.90213360C>T	(Likely) benign	1 lab	418ec7de0d
8:133492689 KCNQ3 C>T	8	133492689	133492689	C	T	KCNQ3	c.91G>A	NM_004519.4	NP_004510.1:p.(Gly31Arg)	NC_000008.10:g.133492689C>T	VUS	1 lab	418fde67b1
16:51174941 SALL1 C>T	16	51174941	51174941	C	T	SALL1	c.1192G>A	NM_002968.3	NP_002959.2:p.(Ala398Thr)	NC_000016.9:g.51174941C>T	(Likely) benign	1 lab	419202745c
5:140870306 PCDHGC3 G>A	5	140870306	140870306	G	A	PCDHGC3	c.2431-4068G>A	NM_002588.4	NP_002579.2:p.?	NC_000005.9:g.140870306G>A	VUS	1 lab	41923a1f99
X:74375957 ABCB7 T>C	X	74375957	74375957	T	C	ABCB7	c.151A>G	NM_001271696.3	NP_001258625.1:p.(Thr51Ala)	NC_000023.10:g.74375957T>C	(Likely) benign	1 lab	4192680903
16:57238667 RSPRY1 A>ACTGGAGGTG	16	57238667	57238677	A	ACTGGAGGTG	RSPRY1	c.99_107dup	NM_133368.3	NP_588609.1:p.(Gly34_Ala36dup)	NC_000016.9:g.57238669_57238677dup	VUS	1 lab	419278fd3b
2:48026946 MSH6 T>C	2	48026946	48026946	T	C	MSH6	c.1824T>C	NM_000179.3	NP_000170.1:p.(Ile608=)	NC_000002.11:g.48026946T>C	(Likely) benign	1 lab	419400519a
11:2906147 CDKN1C G>GGCCGGA	11	2906147	2906170	G	GGCCGGA	CDKN1C	c.534_539dup	NM_001122630.2	NP_001116102.1:p.(Ala182_Pro183dup)	NC_000011.9:g.2906165_2906170dup	VUS	1 lab	4194051408
9:135779162 TSC1 A>T	9	135779162	135779162	A	T	TSC1	c.2084T>A	NM_000368.5	NP_000359.1:p.(Leu695Ter)	NC_000009.11:g.135779162A>T	(Likely) pathogenic	1 lab	41940dd124
2:3392127 TRAPPC12 C>T	2	3392127	3392127	C	T	TRAPPC12	c.733C>T	NM_016030.6	NP_057114.5:p.(Pro245Ser)	NC_000002.11:g.3392127C>T	(Likely) benign	1 lab	4195879a53
4:6290847 WFS1 C>T	4	6290847	6290847	C	T	WFS1	c.449C>T	NM_006005.3	NP_005996.2:p.(Ala150Val)	NC_000004.11:g.6290847C>T	(Likely) benign	1 lab	4196eb13d9
19:55658397 TNNT1 C>T	19	55658397	55658397	C	T	TNNT1	c.33-8G>A	NM_003283.6	NP_003274.3:p.?	NC_000019.9:g.55658397C>T	(Likely) benign	1 lab	4199011c83
4:48512169 FRYL C>A	4	48512169	48512169	C	A	FRYL	c.8301G>T	NM_015030.2	NP_055845.1:p.(Met2767Ile)	NC_000004.11:g.48512169C>A	(Likely) benign	1 lab	419aad2a39
1:152281940 FLG C>T	1	152281940	152281940	C	T	FLG	c.5422G>A	NM_002016.2	NP_002007.1:p.(Glu1808Lys)	NC_000001.10:g.152281940C>T	VUS	1 lab	419ac0cede
3:126730948 PLXNA1 C>T	3	126730948	126730948	C	T	PLXNA1	c.2260C>T	NM_032242.4	NP_115618.3:p.(Arg754Cys)	NC_000003.11:g.126730948C>T	VUS	1 lab	419af7d3d4
6:33154348 COL11A2 G>A	6	33154348	33154348	G	A	COL11A2	c.798+56C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33154348G>A	VUS	1 lab	41a8569e0a
10:31791444 ZEB1 G>T	10	31791444	31791444	G	T	ZEB1	c.484+7G>T	NM_001174096.2	NP_001167567.1:p.?	NC_000010.10:g.31791444G>T	(Likely) benign	1 lab	419db26d43
20:57470710 GNAS G>GA	20	57470710	57470711	G	GA	GNAS	c.184dup	NM_000516.7	NP_000507.1:p.(Ile62AsnfsTer5)	NC_000020.10:g.57470711dup	(Likely) pathogenic	1 lab	1e6f9e4ece
14:50120805 POLE2 G>A	14	50120805	50120805	G	A	POLE2	c.1134-20C>T	NM_002692.4	NP_002683.2:p.?	NC_000014.8:g.50120805G>A	(Likely) benign	1 lab	1ee60e093e
X:57934577 ZXDA T>C	X	57934577	57934577	T	C	ZXDA	c.2278A>G	NM_007156.5	NP_009087.1:p.(Asn760Asp)	NC_000023.10:g.57934577T>C	VUS	1 lab	41a02d3594
22:30069436 NF2 A>G	22	30069436	30069436	A	G	NF2	c.1301A>G	NM_000268.4	NP_000259.1:p.(Glu434Gly)	NC_000022.10:g.30069436A>G	VUS	1 lab	41a087ccf3
6:132141181 ENPP1 T>G	6	132141181	132141181	T	G	ENPP1	c.240+11766T>G	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132141181T>G	(Likely) benign	1 lab	41a09026c6
7:2258969 MAD1L1 G>A	7	2258969	2258969	G	A	MAD1L1	c.594C>T	NM_001013836.2	NP_001013858.1:p.(His198=)	NC_000007.13:g.2258969G>A	VUS	1 lab	41a0c59786
6:15501344 JARID2 C>T	6	15501344	15501344	C	T	JARID2	c.2152C>T	NM_004973.4	NP_004964.2:p.(Arg718Trp)	NC_000006.11:g.15501344C>T	(Likely) benign	1 lab	41a1c1f373
9:119460628 ASTN2 C>T	9	119460628	119460628	C	T	ASTN2	c.2806+27422G>A	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460628C>T	VUS	1 lab	41a226a180
X:153583371 FLNA C>T	X	153583371	153583371	C	T	FLNA	c.5039G>A	NM_001110556.2	NP_001104026.1:p.(Gly1680Asp)	NC_000023.10:g.153583371C>T	VUS	1 lab	41a245c1fc
4:167020686 TLL1 A>G	4	167020686	167020686	A	G	TLL1	c.2907+7A>G	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.167020686A>G	VUS	1 lab	41a275c30c
16:597923 CAPN15 C>CCAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCA	16	597923	597925	C	CCAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCA	CAPN15	c.1086_1087insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC	NM_005632.3	NP_005623.1:p.(Ala362_Cys363insSerGlyProAlaLeuProValProCysSerThrHis)	NC_000016.9:g.597924_597925insAGTGGGCCTGCCCTGCCTGTACCCTGCTCAACGCAC	VUS	1 lab	41a3240b2b
9:2060993 SMARCA2 A>C	9	2060993	2060993	A	C	SMARCA2	c.1692+7A>C	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2060993A>C	(Likely) benign	1 lab	41a45db178
8:104922618 RIMS2 A>G	8	104922618	104922618	A	G	RIMS2	c.1826A>G	NM_001348484.3	NP_001335413.1:p.(Glu609Gly)	NC_000008.10:g.104922618A>G	VUS	1 lab	41a669c881
10:119302937 EMX2 G>GGCCGCC	10	119302937	119302956	G	GGCCGCC	EMX2	c.173_178dup	NM_004098.4	NP_004089.1:p.(Ala58_Ala59dup)	NC_000010.10:g.119302951_119302956dup	VUS	1 lab	41ab69bf7f
11:47463395 RAPSN G>A	11	47463395	47463395	G	A	RAPSN	c.769C>T	NM_005055.5	NP_005046.2:p.(Arg257Trp)	NC_000011.9:g.47463395G>A	VUS	1 lab	41ae7a47bc
4:2200401 POLN C>T	4	2200401	2200401	C	T	POLN	c.758G>A	NM_181808.4	NP_861524.2:p.(Arg253His)	NC_000004.11:g.2200401C>T	(Likely) benign	1 lab	41ae7bb953
11:96125064 JRKL C>G	11	96125064	96125064	C	G	JRKL	c.1251C>G	NM_001261833.2	NP_001248762.1:p.(Thr417=)	NC_000011.9:g.96125064C>G	(Likely) benign	1 lab	41afebbc12
15:91455465 MAN2A2 C>T	15	91455465	91455465	C	T	MAN2A2	c.2302C>T	NM_006122.4	NP_006113.2:p.(Arg768Cys)	NC_000015.9:g.91455465C>T	VUS	1 lab	41b01c39a4
19:11364347 DOCK6 G>C	19	11364347	11364347	G	C	DOCK6	c.100C>G	NM_020812.4	NP_065863.2:p.(His34Asp)	NC_000019.9:g.11364347G>C	(Likely) benign	1 lab	41b1085c27
14:73637541 PSEN1 C>T	14	73637541	73637541	C	T	PSEN1	c.124C>T	NM_000021.4	NP_000012.1:p.(Arg42Trp)	NC_000014.8:g.73637541C>T	VUS	1 lab	41eb08f3de
2:47702219 MSH2 T>TG	2	47702219	47702220	T	TG	MSH2	c.1816dup	NM_000251.3	NP_000242.1:p.(Val606GlyfsTer38)	NC_000002.11:g.47702220dup	(Likely) pathogenic	1 lab	41b1661975
15:91483531 UNC45A C>A	15	91483531	91483531	C	A	UNC45A	c.520-5C>A	NM_018671.5	NP_061141.2:p.?	NC_000015.9:g.91483531C>A	VUS	1 lab	41b176bae4
3:9982887 CRELD1 G>T	3	9982887	9982887	G	T	CRELD1	c.730G>T	NM_001077415.3	NP_001070883.2:p.(Val244Leu)	NC_000003.11:g.9982887G>T	(Likely) benign	1 lab	41b1e07c91
16:70211382 CLEC18C A>T	16	70211382	70211382	A	T	CLEC18C	c.455A>T	NM_173619.4	NP_775890.2:p.(Gln152Leu)	NC_000016.9:g.70211382A>T	(Likely) benign	1 lab	41b4bc70f2
16:2140705 PKD1 G>A	16	2140705	2140705	G	A	PKD1	c.12108C>T	NM_001009944.2	NP_001009944.2:p.(Leu4036=)	NC_000016.9:g.2140705G>A	(Likely) benign	1 lab	1ee9be0697
11:68154161 LRP5 G>A	11	68154161	68154161	G	A	LRP5	c.1393G>A	NM_002335.4	NP_002326.2:p.(Ala465Thr)	NC_000011.9:g.68154161G>A	(Likely) benign	1 lab	41b55632ce
19:39990048 DLL3 G>A	19	39990048	39990048	G	A	DLL3	c.286G>A	NM_203486.3	NP_982353.1:p.(Ala96Thr)	NC_000019.9:g.39990048G>A	(Likely) benign	1 lab	41b55ff6d1
15:44861655 SPG11 ATATG>A	15	44861655	44861664	ATATG	A	SPG11	c.6522_6525del	NM_025137.4	NP_079413.3:p.(Ile2175LeufsTer13)	NC_000015.9:g.44861661_44861664del	VUS	1 lab	41b6239487
6:118786639 CEP85L T>C	6	118786639	118786639	T	C	CEP85L	c.2347A>G	NM_001042475.3	NP_001035940.1:p.(Ile783Val)	NC_000006.11:g.118786639T>C	VUS	1 lab	1e78d876c4
8:101725018 PABPC1 C>CT	8	101725018	101725020	C	CT	PABPC1	c.739-2dup	NM_002568.4	NP_002559.2:p.?	NC_000008.10:g.101725020dup	VUS	1 lab	41b8cee6fc
19:1465819 APC2 C>CGGCCAA	19	1465819	1465838	C	CGGCCAA	APC2	c.2533_2538dup	NM_005883.3	NP_005874.1:p.(Ala845_Lys846dup)	NC_000019.9:g.1465833_1465838dup	VUS	1 lab	41b9263912
6:117252539 RFX6 T>C	6	117252539	117252539	T	C	RFX6	c.2657T>C	NM_173560.4	NP_775831.2:p.(Met886Thr)	NC_000006.11:g.117252539T>C	VUS	1 lab	41b949e791
2:220413919 TMEM198 G>A	2	220413919	220413919	G	A	TMEM198	c.788G>A	NM_001005209.3	NP_001005209.1:p.(Arg263Gln)	NC_000002.11:g.220413919G>A	(Likely) benign	1 lab	41b9f92eaf
1:240371492 FMN2 C>T	1	240371492	240371492	C	T	FMN2	c.3380C>T	NM_020066.5	NP_064450.3:p.(Ala1127Val)	NC_000001.10:g.240371492C>T	VUS	1 lab	41ba0cabaa
17:80899315 TBCD C>G	17	80899315	80899315	C	G	TBCD	c.3520C>G	NM_005993.5	NP_005984.3:p.(Leu1174Val)	NC_000017.10:g.80899315C>G	VUS	1 lab	41ba85d36c
3:49568219 DAG1 GT>G	3	49568219	49568220	GT	G	DAG1	c.286-10del	NM_004393.6	NP_004384.5:p.?	NC_000003.11:g.49568220del	(Likely) benign	1 lab	41ce8d9871
18:48606397 SMAD4 GATAA>G	18	48606397	48606404	GATAA	G	SMAD4	c.*1564_*1567del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48606401_48606404del	VUS	1 lab	41bd4bfb1e
9:88356827 AGTPBP1 GGCGGCGGCAGCT>G	9	88356827	88356847	GGCGGCGGCAGCT	G	AGTPBP1	c.-183_-172del	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88356836_88356847del	VUS	1 lab	41bddcd9b1
19:46307965 RSPH6A C>T	19	46307965	46307965	C	T	RSPH6A	c.1198G>A	NM_030785.4	NP_110412.1:p.(Val400Met)	NC_000019.9:g.46307965C>T	(Likely) benign	1 lab	41be29c9ba
19:13340999 CACNA1A T>G	19	13340999	13340999	T	G	CACNA1A	c.5425A>C	NM_001127222.2	NP_001120694.1:p.(Ile1809Leu)	NC_000019.9:g.13340999T>G	(Likely) pathogenic	1 lab	41beac55db
4:85612824 WDFY3 G>A	4	85612824	85612824	G	A	WDFY3	c.9164C>T	NM_014991.6	NP_055806.2:p.(Ala3055Val)	NC_000004.11:g.85612824G>A	VUS	1 lab	41c0263ff1
18:19079876 GREB1L T>C	18	19079876	19079876	T	C	GREB1L	c.3578T>C	NM_001142966.3	NP_001136438.1:p.(Met1193Thr)	NC_000018.9:g.19079876T>C	(Likely) benign	1 lab	41c292b8d3
15:56996350 ZNF280D G>A	15	56996350	56996350	G	A	ZNF280D	c.144C>T	NM_017661.4	NP_060131.2:p.(Gly48=)	NC_000015.9:g.56996350G>A	(Likely) benign	1 lab	41c35cd1db
3:41279532 CTNNB1 G>T	3	41279532	41279532	G	T	CTNNB1	c.2102G>T	NM_001904.4	NP_001895.1:p.(Gly701Val)	NC_000003.11:g.41279532G>T	VUS	1 lab	41c617242a
2:183866758 NCKAP1 G>C	2	183866758	183866758	G	C	NCKAP1	c.526C>G	NM_013436.5	NP_038464.1:p.(Pro176Ala)	NC_000002.11:g.183866758G>C	VUS	1 lab	41c7d616b7
1:26139240 SELENON C>T	1	26139240	26139240	C	T	SELENON	c.1242C>T	NM_206926.2	NP_996809.1:p.(His414=)	NC_000001.10:g.26139240C>T	(Likely) benign	1 lab	41c80b58a0
16:89347177 ANKRD11 G>T	16	89347177	89347177	G	T	ANKRD11	c.5773C>A	NM_013275.6	NP_037407.4:p.(Pro1925Thr)	NC_000016.9:g.89347177G>T	VUS	1 lab	41c8420c86
10:88414573 OPN4 CAG>C	10	88414573	88414575	CAG	C	OPN4	c.34_35del	NM_033282.4	NP_150598.1:p.(Ser12ProfsTer52)	NC_000010.10:g.88414574_88414575del	(Likely) benign	1 lab	41c919ed59
1:156106081 LMNA G>A	1	156106081	156106081	G	A	LMNA	c.1234G>A	NM_170707.4	NP_733821.1:p.(Gly412Arg)	NC_000001.10:g.156106081G>A	VUS	1 lab	41c92cdac2
15:63929840 HERC1 G>A	15	63929840	63929840	G	A	HERC1	c.12096C>T	NM_003922.4	NP_003913.3:p.(Val4032=)	NC_000015.9:g.63929840G>A	(Likely) benign	1 lab	41cb557db8
15:91453367 MAN2A2 G>A	15	91453367	91453367	G	A	MAN2A2	c.1422G>A	NM_006122.4	NP_006113.2:p.(Arg474=)	NC_000015.9:g.91453367G>A	(Likely) benign	1 lab	41cf7f9c74
15:101589987 LRRK1 C>T	15	101589987	101589987	C	T	LRRK1	c.3438C>T	NM_024652.6	NP_078928.3:p.(Pro1146=)	NC_000015.9:g.101589987C>T	VUS	1 lab	41cfbc25fc
19:7184654 INSR GA>G	19	7184654	7184655	GA	G	INSR	c.653-7del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184655del	(Likely) benign	1 lab	4279ec906e
19:15375496 BRD4 G>C	19	15375496	15375496	G	C	BRD4	c.931C>G	NM_001379291.1	NP_001366220.1:p.(Pro311Ala)	NC_000019.9:g.15375496G>C	(Likely) benign	1 lab	41d0417fe7
5:14297381 TRIO C>T	5	14297381	14297381	C	T	TRIO	c.1368+9C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14297381C>T	(Likely) benign	1 lab	41d0ed8037
10:70182052 DNA2 T>C	10	70182052	70182052	T	C	DNA2	c.2627A>G	NM_001080449.3	NP_001073918.2:p.(Tyr876Cys)	NC_000010.10:g.70182052T>C	VUS	1 lab	41d1f24382
17:79102270 AATK C>T	17	79102270	79102270	C	T	AATK	c.414G>A	NM_001080395.3	NP_001073864.2:p.(Lys138=)	NC_000017.10:g.79102270C>T	(Likely) benign	1 lab	41d3f76285
X:75649783 MAGEE1 C>T	X	75649783	75649783	C	T	MAGEE1	c.1460C>T	NM_020932.3	NP_065983.1:p.(Pro487Leu)	NC_000023.10:g.75649783C>T	(Likely) benign	1 lab	41d409cdc6
12:12618609 BORCS5 G>A	12	12618609	12618609	G	A	BORCS5	c.490G>A	NM_058169.6	NP_477517.1:p.(Asp164Asn)	NC_000012.11:g.12618609G>A	VUS	1 lab	41d863309b
7:31009576 GHRHR G>T	7	31009576	31009576	G	T	GHRHR	c.363G>T	NM_000823.4	NP_000814.2:p.(Glu121Asp)	NC_000007.13:g.31009576G>T	(Likely) benign	1 lab	41d93461dc
20:43254306 ADA C>T	20	43254306	43254306	C	T	ADA	c.382G>A	NM_000022.4	NP_000013.2:p.(Glu128Lys)	NC_000020.10:g.43254306C>T	VUS	1 lab	41d9a26b41
21:47849921 PCNT C>T	21	47849921	47849921	C	T	PCNT	c.7691-3C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47849921C>T	VUS	1 lab	41d9dd96c5
12:115112355 TBX3 G>C	12	115112355	115112355	G	C	TBX3	c.1325C>G	NM_005996.4	NP_005987.3:p.(Thr442Arg)	NC_000012.11:g.115112355G>C	VUS	1 lab	41da4efaa9
11:89223712 NOX4 G>C	11	89223712	89223712	G	C	NOX4	c.67C>G	NM_016931.5	NP_058627.2:p.(Leu23Val)	NC_000011.9:g.89223712G>C	VUS	1 lab	41da641c8e
9:139906707 ABCA2 G>A	9	139906707	139906707	G	A	ABCA2	c.5299+10C>T	NM_001606.5	NP_001597.2:p.?	NC_000009.11:g.139906707G>A	(Likely) benign	1 lab	41db130832
22:46327067 WNT7B C>T	22	46327067	46327067	C	T	WNT7B	c.481G>A	NM_058238.3	NP_478679.1:p.(Asp161Asn)	NC_000022.10:g.46327067C>T	(Likely) benign	1 lab	41db6ba70c
6:152783913 SYNE1 A>G	6	152783913	152783913	A	G	SYNE1	c.2210T>C	NM_182961.4	NP_892006.3:p.(Val737Ala)	NC_000006.11:g.152783913A>G	VUS	1 lab	1eeb4335f8
7:47852855 PKD1L1 TAG>T	7	47852855	47852859	TAG	T	PKD1L1	c.7208_7209del	NM_138295.5	NP_612152.1:p.(Ser2403TyrfsTer5)	NC_000007.13:g.47852858_47852859del	VUS	1 lab	41ddb7251c
6:21596013 SOX4 C>T	6	21596013	21596013	C	T	SOX4	c.1248C>T	NM_003107.3	NP_003098.1:p.(Ser416=)	NC_000006.11:g.21596013C>T	(Likely) benign	1 lab	1e78e3e513
22:42606526 TCF20 G>A	22	42606526	42606526	G	A	TCF20	c.4786C>T	NM_001378418.1	NP_001365347.1:p.(Arg1596Ter)	NC_000022.10:g.42606526G>A	(Likely) pathogenic	1 lab	41de630477
8:56711723 TGS1 A>G	8	56711723	56711723	A	G	TGS1	c.1793A>G	NM_024831.8	NP_079107.6:p.(Asp598Gly)	NC_000008.10:g.56711723A>G	VUS	1 lab	41e04c8a85
7:86823333 DMTF1 T>C	7	86823333	86823333	T	C	DMTF1	c.1943T>C	NM_001142327.2	NP_001135799.1:p.(Met648Thr)	NC_000007.13:g.86823333T>C	VUS	1 lab	41e0ddb23c
19:1466236 APC2 C>T	19	1466236	1466236	C	T	APC2	c.2936C>T	NM_005883.3	NP_005874.1:p.(Pro979Leu)	NC_000019.9:g.1466236C>T	VUS	1 lab	41e1b1254f
8:10466330 RP1L1 G>A	8	10466330	10466330	G	A	RP1L1	c.5278C>T	NM_178857.6	NP_849188.4:p.(Leu1760Phe)	NC_000008.10:g.10466330G>A	(Likely) benign	1 lab	41e33b0f87
6:70926748 COL9A1 C>T	6	70926748	70926748	C	T	COL9A1	c.2618G>A	NM_001851.6	NP_001842.3:p.(Arg873Gln)	NC_000006.11:g.70926748C>T	VUS	1 lab	41e4a55f68
1:108786278 NBPF4 G>A	1	108786278	108786278	G	A	NBPF4	c.106C>T	NM_001143989.3	NP_001137461.1:p.(Arg36Ter)	NC_000001.10:g.108786278G>A	VUS	1 lab	41e4e743d8
7:149171936 ZNF746 T>C	7	149171936	149171936	T	C	ZNF746	c.1522A>G	NM_001394198.1	NP_001381127.1:p.(Ser508Gly)	NC_000007.13:g.149171936T>C	(Likely) benign	1 lab	41e6c7b73a
15:33916223 RYR3 A>G	15	33916223	33916223	A	G	RYR3	c.2573A>G	NM_001036.6	NP_001027.3:p.(Gln858Arg)	NC_000015.9:g.33916223A>G	(Likely) benign	1 lab	41e71e1c11
12:121426700 HNF1A C>T	12	121426700	121426700	C	T	HNF1A	c.391C>T	NM_000545.8	NP_000536.6:p.(Arg131Trp)	NC_000012.11:g.121426700C>T	(Likely) pathogenic	1 lab	41e8750341
19:52133270 SIGLEC5 G>T	19	52133270	52133270	G	T	SIGLEC5	c.237C>A	NM_003830.4	NP_003821.1:p.(Asp79Glu)	NC_000019.9:g.52133270G>T	VUS	1 lab	41ea5be53d
1:103377741 COL11A1 C>T	1	103377741	103377741	C	T	COL11A1	c.4060G>A	NM_001854.4	NP_001845.3:p.(Gly1354Ser)	NC_000001.10:g.103377741C>T	VUS	1 lab	41ebedf39e
X:153171714 AVPR2 C>T	X	153171714	153171714	C	T	AVPR2	c.754C>T	NM_000054.6	NP_000045.1:p.(Arg252Trp)	NC_000023.10:g.153171714C>T	(Likely) benign	1 lab	41f019390c
7:140373311 ADCK2 G>A	7	140373311	140373311	G	A	ADCK2	c.181G>A	NM_052853.4	NP_443085.2:p.(Ala61Thr)	NC_000007.13:g.140373311G>A	VUS	1 lab	41f03f7190
11:800762 PIDD1 C>G	11	800762	800762	C	G	PIDD1	c.1917G>C	NM_145886.4	NP_665893.2:p.(Lys639Asn)	NC_000011.9:g.800762C>G	VUS	1 lab	41f0a5d309
4:5620297 EVC2 G>A	4	5620297	5620297	G	A	EVC2	c.2614C>T	NM_147127.5	NP_667338.3:p.(Arg872Trp)	NC_000004.11:g.5620297G>A	VUS	1 lab	41f0b1b458
9:24545281 IZUMO3 A>C	9	24545281	24545281	A	C	IZUMO3	c.230T>G	NM_001365008.2	NP_001351937.1:p.(Val77Gly)	NC_000009.11:g.24545281A>C	VUS	1 lab	41f0b663aa
13:25671352 PABPC3 G>T	13	25671352	25671352	G	T	PABPC3	c.1016G>T	NM_030979.3	NP_112241.2:p.(Cys339Phe)	NC_000013.10:g.25671352G>T	VUS	1 lab	41f3bcfce0
5:74930741 ANKDD1B C>T	5	74930741	74930741	C	T	ANKDD1B	c.619C>T	NM_001276713.2	NP_001263642.1:p.(Leu207Phe)	NC_000005.9:g.74930741C>T	(Likely) benign	1 lab	41f4b33403
11:108150226 ATM A>G	11	108150226	108150226	A	G	ATM	c.3293A>G	NM_000051.3	NP_000042.3:p.(Gln1098Arg)	NC_000011.9:g.108150226A>G	VUS	1 lab	1eedc32175
17:71197678 COG1 G>A	17	71197678	71197678	G	A	COG1	c.1712G>A	NM_018714.3	NP_061184.1:p.(Arg571Gln)	NC_000017.10:g.71197678G>A	(Likely) benign	1 lab	41f6283299
12:112323761 MAPKAPK5 G>T	12	112323761	112323761	G	T	MAPKAPK5	c.890G>T	NM_003668.4	NP_003659.2:p.(Gly297Val)	NC_000012.11:g.112323761G>T	VUS	1 lab	41f6bb516c
16:2168455 PKD1 ACTC>A	16	2168455	2168461	ACTC	A	PKD1	c.535_537del	NM_001009944.3	NP_001009944.3:p.(Glu179del)	NC_000016.9:g.2168459_2168461del	VUS	1 lab	41f7f2ffd6
16:15917118 MYH11 G>T	16	15917118	15917118	G	T	MYH11	c.496C>A	NM_002474.3	NP_002465.1:p.(Leu166Ile)	NC_000016.9:g.15917118G>T	VUS	1 lab	41f97c5b53
2:179517425 TTN C>T	2	179517425	179517425	C	T	TTN	c.38998G>A	NM_001267550.2	NP_001254479.2:p.(Val13000Met)	NC_000002.11:g.179517425C>T	VUS	1 lab	41fad1cb3e
18:20562361 RBBP8 G>T	18	20562361	20562361	G	T	RBBP8	c.604+5G>T	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20562361G>T	VUS	1 lab	41fb1a4c62
2:228112288 COL4A3 G>T	2	228112288	228112288	G	T	COL4A3	c.456G>T	NM_000091.5	NP_000082.2:p.(Leu152Phe)	NC_000002.11:g.228112288G>T	(Likely) benign	1 lab	41fdea67d9
6:44107206 TMEM63B A>G	6	44107206	44107206	A	G	TMEM63B	c.410A>G	NM_018426.3	NP_060896.1:p.(Asp137Gly)	NC_000006.11:g.44107206A>G	VUS	1 lab	41fedfd2c4
10:64136072 ZNF365 G>C	10	64136072	64136072	G	C	ZNF365	c.120G>C	NM_014951.3	NP_055766.2:p.(Leu40Phe)	NC_000010.10:g.64136072G>C	VUS	1 lab	41feee7a2f
20:60902995 LAMA5 C>T	20	60902995	60902995	C	T	LAMA5	c.4724G>A	NM_005560.6	NP_005551.3:p.(Arg1575His)	NC_000020.10:g.60902995C>T	(Likely) benign	1 lab	41ff43d449
3:128060078 EEFSEC G>A	3	128060078	128060078	G	A	EEFSEC	c.789G>A	NM_021937.5	NP_068756.2:p.(Val263=)	NC_000003.11:g.128060078G>A	VUS	1 lab	41ff948380
13:36125173 NBEA A>T	13	36125173	36125173	A	T	NBEA	c.6806+4A>T	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.36125173A>T	(Likely) benign	1 lab	41ffcce8e4
1:156107519 LMNA G>T	1	156107519	156107519	G	T	LMNA	c.1683G>T	NM_170707.4	NP_733821.1:p.(Leu561=)	NC_000001.10:g.156107519G>T	(Likely) benign	1 lab	42001dd3ea
14:23894049 MYH7 G>A	14	23894049	23894049	G	A	MYH7	c.2608C>T	NM_000257.2	NP_000248.2:p.(Arg870Cys)	NC_000014.8:g.23894049G>A	(Likely) pathogenic	1 lab	1eee80a731
15:41228420 DLL4 TCA>T	15	41228420	41228424	TCA	T	DLL4	c.1241-3_1241-2del	NM_019074.4	NP_061947.1:p.?	NC_000015.9:g.41228423_41228424del	(Likely) benign	1 lab	4210b998bf
9:135946719 CEL CGG>C	9	135946719	135946723	CGG	C	CEL	c.1833_1834del	NM_001807.6	NP_001798.3:p.(Ala612ProfsTer8)	NC_000009.11:g.135946722_135946723del	(Likely) benign	1 lab	42028cd02f
19:50128173 PRR12 C>T	19	50128173	50128173	C	T	PRR12	c.5794C>T	NM_020719.3	NP_065770.1:p.(Arg1932Trp)	NC_000019.9:g.50128173C>T	(Likely) benign	1 lab	420333b5a0
17:4462076 GGT6 TCAG>T	17	4462076	4462081	TCAG	T	GGT6	c.731_733del	NM_001288702.2	NP_001275631.1:p.(Ala244del)	NC_000017.10:g.4462079_4462081del	VUS	1 lab	42050f7503
X:16759848 SYAP1 T>C	X	16759848	16759848	T	C	SYAP1	c.371T>C	NM_032796.4	NP_116185.2:p.(Val124Ala)	NC_000023.10:g.16759848T>C	VUS	1 lab	4206d5a0f1
12:23793784 SOX5 C>T	12	23793784	23793784	C	T	SOX5	c.979G>A	NM_006940.6	NP_008871.3:p.(Ala327Thr)	NC_000012.11:g.23793784C>T	VUS	1 lab	420759edaa
17:43552773 PLEKHM1 G>A	17	43552773	43552773	G	A	PLEKHM1	c.616C>T	NM_014798.3	NP_055613.1:p.(Pro206Ser)	NC_000017.10:g.43552773G>A	(Likely) benign	1 lab	42078caa16
1:147380208 GJA8 G>C	1	147380208	147380208	G	C	GJA8	c.126G>C	NM_005267.5	NP_005258.2:p.(Glu42Asp)	NC_000001.10:g.147380208G>C	VUS	1 lab	4207f4d6d8
7:89912210 CFAP69 G>A	7	89912210	89912210	G	A	CFAP69	c.1377G>A	NM_001039706.3	NP_001034795.2:p.(Pro459=)	NC_000007.13:g.89912210G>A	(Likely) benign	1 lab	4209ee1e54
1:46685716 LURAP1 A>G	1	46685716	46685716	A	G	LURAP1	c.544A>G	NM_001013615.3	NP_001013633.1:p.(Arg182Gly)	NC_000001.10:g.46685716A>G	(Likely) benign	1 lab	4209f99370
11:5246847 HBB A>G	11	5246847	5246847	A	G	HBB	c.425T>C	NM_000518.5	NP_000509.1:p.(Leu142Pro)	NC_000011.9:g.5246847A>G	VUS	1 lab	420a1995bb
7:145814065 CNTNAP2 C>G	7	145814065	145814065	C	G	CNTNAP2	c.97C>G	NM_014141.6	NP_054860.1:p.(Gln33Glu)	NC_000007.13:g.145814065C>G	VUS	1 lab	420c029baf
19:55144567 LILRB1 A>C	19	55144567	55144567	A	C	LILRB1	c.1059A>C	NM_001081637.3	NP_001075106.2:p.(Gln353His)	NC_000019.9:g.55144567A>C	VUS	1 lab	420ce3079d
12:7842595 GDF3 G>A	12	7842595	7842595	G	A	GDF3	c.974C>T	NM_020634.3	NP_065685.1:p.(Pro325Leu)	NC_000012.11:g.7842595G>A	VUS	1 lab	420d45943a
6:31928113 SKIC2 A>G	6	31928113	31928113	A	G	SKIC2	c.353A>G	NM_006929.5	NP_008860.4:p.(Glu118Gly)	NC_000006.11:g.31928113A>G	VUS	1 lab	420ded29f3
2:179600576 TTN G>C	2	179600576	179600576	G	C	TTN	c.14597C>G	NM_001267550.2	NP_001254479.2:p.(Ser4866Cys)	NC_000002.11:g.179600576G>C	VUS	1 lab	4210476d98
16:23640969 PALB2 CGGAATGTT>C	16	23640969	23640977	CGGAATGTT	C	PALB2	c.2498_2505del	NM_024675.4	NP_078951.2:p.(Lys833SerfsTer5)	NC_000016.9:g.23640970_23640977del	(Likely) pathogenic	1 lab	4214158c88
1:225428339 DNAH14 C>CA	1	225428339	225428344	C	CA	DNAH14	c.6568dup	NM_001367479.1	NP_001354408.1:p.(Ile2190AsnfsTer21)	NC_000001.10:g.225428344dup	VUS	1 lab	4216c329bf
1:215777500 KCTD3 G>A	1	215777500	215777500	G	A	KCTD3	c.1165G>A	NM_016121.5	NP_057205.2:p.(Ala389Thr)	NC_000001.10:g.215777500G>A	VUS	1 lab	4216dbfb27
16:66551716 TK2 T>C	16	66551716	66551716	T	C	TK2	c.514A>G	NM_004614.5	NP_004605.4:p.(Met172Val)	NC_000016.9:g.66551716T>C	(Likely) benign	1 lab	4218aac77f
3:129324288 PLXND1 C>T	3	129324288	129324288	C	T	PLXND1	c.1195G>A	NM_015103.3	NP_055918.3:p.(Ala399Thr)	NC_000003.11:g.129324288C>T	VUS	1 lab	4218b5a4b2
17:80041398 FASN G>A	17	80041398	80041398	G	A	FASN	c.5336C>T	NM_004104.5	NP_004095.4:p.(Pro1779Leu)	NC_000017.10:g.80041398G>A	(Likely) benign	1 lab	4219a86182
12:122260747 SETD1B G>A	12	122260747	122260747	G	A	SETD1B	c.4262G>A	NM_001353345.2	NP_001340274.1:p.(Gly1421Asp)	NC_000012.11:g.122260747G>A	VUS	1 lab	421b46ccea
11:66061946 TMEM151A G>A	11	66061946	66061946	G	A	TMEM151A	c.229G>A	NM_153266.4	NP_694998.1:p.(Ala77Thr)	NC_000011.9:g.66061946G>A	(Likely) benign	1 lab	421c27f8db
15:71300718 LRRC49 G>T	15	71300718	71300718	G	T	LRRC49	c.1170G>T	NM_017691.5	NP_060161.2:p.(Gly390=)	NC_000015.9:g.71300718G>T	(Likely) benign	1 lab	421c3707a3
20:61458143 COL9A3 C>T	20	61458143	61458143	C	T	COL9A3	c.763C>T	NM_001853.4	NP_001844.3:p.(Pro255Ser)	NC_000020.10:g.61458143C>T	(Likely) benign	1 lab	421cd478db
6:138196187 TNFAIP3 C>T	6	138196187	138196187	C	T	TNFAIP3	c.486+15C>T	NM_006290.4	NP_006281.1:p.?	NC_000006.11:g.138196187C>T	(Likely) benign	1 lab	1ef1d84c9d
X:53276190 IQSEC2 G>A	X	53276190	53276190	G	A	IQSEC2	c.2710C>T	NM_001111125.3	NP_001104595.1:p.(Arg904Ter)	NC_000023.10:g.53276190G>A	(Likely) pathogenic	1 lab	1e7c9eebf9
22:26423018 MYO18B A>C	22	26423018	26423018	A	C	MYO18B	c.7078A>C	NM_032608.7	NP_115997.5:p.(Ser2360Arg)	NC_000022.10:g.26423018A>C	VUS	1 lab	421f2cf4a2
17:1174332 BHLHA9 A>G	17	1174332	1174332	A	G	BHLHA9	c.475A>G	NM_001164405.2	NP_001157877.1:p.(Ser159Gly)	NC_000017.10:g.1174332A>G	(Likely) benign	1 lab	421fb67b9b
X:152713374 HAUS7 A>G	X	152713374	152713374	A	G	HAUS7	c.1046-7T>C	NM_001385482.1	NP_001372411.1:p.?	NC_000023.10:g.152713374A>G	(Likely) benign	1 lab	4221accb93
11:73872553 C2CD3 G>C	11	73872553	73872553	G	C	C2CD3	c.374C>G	NM_001286577.2	NP_001273506.1:p.(Pro125Arg)	NC_000011.9:g.73872553G>C	VUS	1 lab	4221bb15a0
X:148582520 IDS G>T	X	148582520	148582520	G	T	IDS	c.467C>A	NM_000202.8	NP_000193.1:p.(Pro156Gln)	NC_000023.10:g.148582520G>T	(Likely) benign	1 lab	4221c84eb0
5:41005651 MROH2B G>A	5	41005651	41005651	G	A	MROH2B	c.3846C>T	NM_173489.5	NP_775760.3:p.(Gly1282=)	NC_000005.9:g.41005651G>A	(Likely) benign	1 lab	4222eb6be6
15:74481537 STRA6 G>C	15	74481537	74481537	G	C	STRA6	c.1009C>G	NM_022369.4	NP_071764.3:p.(Leu337Val)	NC_000015.9:g.74481537G>C	VUS	1 lab	4222f898fd
19:13248165 NACC1 C>T	19	13248165	13248165	C	T	NACC1	c.1201C>T	NM_052876.4	NP_443108.1:p.(Arg401Trp)	NC_000019.9:g.13248165C>T	VUS	1 lab	42231662aa
16:15847281 MYH11 C>A	16	15847281	15847281	C	A	MYH11	c.1834G>T	NM_002474.3	NP_002465.1:p.(Asp612Tyr)	NC_000016.9:g.15847281C>A	VUS	1 lab	4223b339cf
20:44592558 ZNF335 G>A	20	44592558	44592558	G	A	ZNF335	c.1174C>T	NM_022095.4	NP_071378.1:p.(Pro392Ser)	NC_000020.10:g.44592558G>A	VUS	1 lab	42246c1af4
15:44955786 SPG11 C>T	15	44955786	44955786	C	T	SPG11	c.60G>A	NM_025137.4	NP_079413.3:p.(Ala20=)	NC_000015.9:g.44955786C>T	(Likely) benign	1 lab	4225302df9
2:27156176 DPYSL5 C>T	2	27156176	27156176	C	T	DPYSL5	c.765C>T	NM_020134.4	NP_064519.2:p.(Asp255=)	NC_000002.11:g.27156176C>T	(Likely) benign	1 lab	1e7d2ca48e
11:130785560 SNX19 G>C	11	130785560	130785560	G	C	SNX19	c.275C>G	NM_014758.3	NP_055573.3:p.(Pro92Arg)	NC_000011.9:g.130785560G>C	(Likely) benign	1 lab	422599be36
16:1550374 TELO2 G>A	16	1550374	1550374	G	A	TELO2	c.1029G>A	NM_016111.4	NP_057195.2:p.(Trp343Ter)	NC_000016.9:g.1550374G>A	VUS	1 lab	422644b2b0
2:233410374 CHRNG C>T	2	233410374	233410374	C	T	CHRNG	c.1502C>T	NM_005199.5	NP_005190.4:p.(Pro501Leu)	NC_000002.11:g.233410374C>T	VUS	1 lab	42273629e7
15:99459929 IGF1R C>CG	15	99459929	99459931	C	CG	IGF1R	c.2027dup	NM_000875.5	NP_000866.1:p.(Thr677HisfsTer5)	NC_000015.9:g.99459931dup	(Likely) pathogenic	1 lab	422746d29b
9:115652829 SLC46A2 TCAC>T	9	115652829	115652835	TCAC	T	SLC46A2	c.130_132del	NM_033051.4	NP_149040.3:p.(Val44del)	NC_000009.11:g.115652833_115652835del	VUS	1 lab	42282fbd1b
15:90216467 PLIN1 G>A	15	90216467	90216467	G	A	PLIN1	c.224C>T	NM_002666.5	NP_002657.3:p.(Pro75Leu)	NC_000015.9:g.90216467G>A	VUS	1 lab	4228c9929b
19:45867309 ERCC2 G>A	19	45867309	45867309	G	A	ERCC2	c.884C>T	NM_000400.4	NP_000391.1:p.(Ala295Val)	NC_000019.9:g.45867309G>A	VUS	1 lab	422afa0bd0
12:116422058 MED13L C>T	12	116422058	116422058	C	T	MED13L	c.4458G>A	NM_015335.4	NP_056150.1:p.(Gln1486=)	NC_000012.11:g.116422058C>T	(Likely) benign	1 lab	1ef50d456d
10:117486854 ATRNL1 G>A	10	117486854	117486854	G	A	ATRNL1	c.3892G>A	NM_207303.4	NP_997186.1:p.(Gly1298Arg)	NC_000010.10:g.117486854G>A	VUS	1 lab	422bea389a
19:18893939 COMP G>T	19	18893939	18893939	G	T	COMP	c.2152C>A	NM_000095.3	NP_000086.2:p.(Arg718=)	NC_000019.9:g.18893939G>T	(Likely) benign	1 lab	422c55c421
19:1037828 CNN2 A>G	19	1037828	1037828	A	G	CNN2	c.859A>G	NM_004368.4	NP_004359.1:p.(Thr287Ala)	NC_000019.9:g.1037828A>G	(Likely) benign	1 lab	422e4a6bae
20:48744675 PEDS1 G>T	20	48744675	48744675	G	T	PEDS1	c.528C>A	NM_199129.4	NP_954580.2:p.(Ile176=)	NC_000020.10:g.48744675G>T	(Likely) benign	1 lab	422ee165fb
1:240458135 FMN2 G>C	1	240458135	240458135	G	C	FMN2	c.4167G>C	NM_020066.5	NP_064450.3:p.(Leu1389Phe)	NC_000001.10:g.240458135G>C	VUS	1 lab	422ef91499
1:156837904 NTRK1 C>T	1	156837904	156837904	C	T	NTRK1	c.437C>T	NM_001012331.2	NP_001012331.1:p.(Ser146Leu)	NC_000001.10:g.156837904C>T	VUS	1 lab	1e7d629a05
1:222802652 MIA3 T>C	1	222802652	222802652	T	C	MIA3	c.2090T>C	NM_198551.4	NP_940953.2:p.(Met697Thr)	NC_000001.10:g.222802652T>C	(Likely) benign	1 lab	423071b7a0
4:88986960 PKD2 GA>G	4	88986960	88986961	GA	G	PKD2	c.2288del	NM_000297.4	NP_000288.1:p.(Asp763AlafsTer8)	NC_000004.11:g.88986961del	(Likely) pathogenic	1 lab	4230a7a7dd
2:44202374 LRPPRC A>G	2	44202374	44202374	A	G	LRPPRC	c.738-18T>C	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44202374A>G	(Likely) benign	1 lab	1e7e752d1d
1:24669504 GRHL3 C>T	1	24669504	24669504	C	T	GRHL3	c.1408C>T	NM_198173.3	NP_937816.1:p.(Arg470Cys)	NC_000001.10:g.24669504C>T	VUS	1 lab	423119516b
7:128486051 FLNC G>T	7	128486051	128486051	G	T	FLNC	c.3798G>T	NM_001458.4	NP_001449.3:p.(Leu1266=)	NC_000007.13:g.128486051G>T	(Likely) benign	1 lab	1ef722c6d8
3:47465516 SCAP C>A	3	47465516	47465516	C	A	SCAP	c.1057G>T	NM_012235.4	NP_036367.2:p.(Val353Leu)	NC_000003.11:g.47465516C>A	VUS	1 lab	42317bcefd
19:12962750 MAST1 C>T	19	12962750	12962750	C	T	MAST1	c.777C>T	NM_014975.3	NP_055790.1:p.(Ala259=)	NC_000019.9:g.12962750C>T	(Likely) benign	1 lab	4234182056
19:47876086 DHX34 A>G	19	47876086	47876086	A	G	DHX34	c.1868A>G	NM_014681.6	NP_055496.2:p.(Gln623Arg)	NC_000019.9:g.47876086A>G	(Likely) benign	1 lab	4234571127
19:7132231 INSR G>A	19	7132231	7132231	G	A	INSR	c.2780C>T	NM_000208.4	NP_000199.2:p.(Ala927Val)	NC_000019.9:g.7132231G>A	VUS	1 lab	4236d9c070
4:1803659 FGFR3 T>C	4	1803659	1803659	T	C	FGFR3	c.837T>C	NM_000142.5	NP_000133.1:p.(Ser279=)	NC_000004.11:g.1803659T>C	(Likely) benign	1 lab	4238ecb07b
1:12065846 MFN2 A>T	1	12065846	12065846	A	T	MFN2	c.1574A>T	NM_014874.4	NP_055689.1:p.(Asn525Ile)	NC_000001.10:g.12065846A>T	VUS	1 lab	42391056dd
16:1497545 CLCN7 C>T	16	1497545	1497545	C	T	CLCN7	c.2098G>A	NM_001287.6	NP_001278.1:p.(Gly700Ser)	NC_000016.9:g.1497545C>T	(Likely) benign	1 lab	423b3b244e
19:46914815 CCDC8 CT>C	19	46914815	46914818	CT	C	CCDC8	c.1252del	NM_032040.5	NP_114429.2:p.(Arg418GlyfsTer61)	NC_000019.9:g.46914818del	(Likely) pathogenic	1 lab	423caf2334
21:47535816 COL6A2 G>A	21	47535816	47535816	G	A	COL6A2	c.832G>A	NM_001849.4	NP_001840.3:p.(Glu278Lys)	NC_000021.8:g.47535816G>A	(Likely) benign	1 lab	423cd3f7bd
12:116444141 MED13L T>C	12	116444141	116444141	T	C	MED13L	c.2314A>G	NM_015335.5	NP_056150.1:p.(Met772Val)	NC_000012.11:g.116444141T>C	VUS	1 lab	423db9e672
16:57238719 RSPRY1 G>A	16	57238719	57238719	G	A	RSPRY1	c.149G>A	NM_133368.3	NP_588609.1:p.(Ser50Asn)	NC_000016.9:g.57238719G>A	VUS	1 lab	423fb82d82
1:40030358 PABPC4 C>G	1	40030358	40030358	C	G	PABPC4	c.1333G>C	NM_001135653.2	NP_001129125.1:p.(Gly445Arg)	NC_000001.10:g.40030358C>G	VUS	1 lab	42409c58a5
4:1805428 FGFR3 G>A	4	1805428	1805428	G	A	FGFR3	c.940G>A	NM_000142.5	NP_000133.1:p.(Ala314Thr)	NC_000004.11:g.1805428G>A	VUS	1 lab	4242011de6
12:56742818 STAT2 G>T	12	56742818	56742818	G	T	STAT2	c.1466C>A	NM_005419.4	NP_005410.1:p.(Pro489His)	NC_000012.11:g.56742818G>T	VUS	1 lab	4242d6f0aa
18:9887614 TXNDC2 C>G	18	9887614	9887614	C	G	TXNDC2	c.937C>G	NM_032243.6	NP_115619.4:p.(Gln313Glu)	NC_000018.9:g.9887614C>G	(Likely) benign	1 lab	4243c234e2
8:100454867 VPS13B T>C	8	100454867	100454867	T	C	VPS13B	c.3445+4T>C	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100454867T>C	VUS	1 lab	4244f777d4
16:1412295 GNPTG T>C	16	1412295	1412295	T	C	GNPTG	c.500T>C	NM_032520.5	NP_115909.1:p.(Leu167Pro)	NC_000016.9:g.1412295T>C	VUS	1 lab	4245577bba
2:149227689 MBD5 C>T	2	149227689	149227689	C	T	MBD5	c.2177C>T	NM_001378120.1	NP_001365049.1:p.(Ser726Leu)	NC_000002.11:g.149227689C>T	VUS	1 lab	424562ee19
22:36688276 MYH9 G>A	22	36688276	36688276	G	A	MYH9	c.4100C>T	NM_002473.6	NP_002464.1:p.(Ala1367Val)	NC_000022.10:g.36688276G>A	VUS	1 lab	42457f9a24
3:186954284 MASP1 C>T	3	186954284	186954284	C	T	MASP1	c.1375G>A	NM_139125.4	NP_624302.1:p.(Gly459Ser)	NC_000003.11:g.186954284C>T	VUS	1 lab	4247468711
12:7842611 GDF3 C>T	12	7842611	7842611	C	T	GDF3	c.958G>A	NM_020634.3	NP_065685.1:p.(Val320Ile)	NC_000012.11:g.7842611C>T	(Likely) benign	1 lab	4247864ea8
8:11995036 USP17L2 G>A	8	11995036	11995036	G	A	USP17L2	c.1234C>T	NM_201402.3	NP_958804.2:p.(His412Tyr)	NC_000008.10:g.11995036G>A	VUS	1 lab	4248328160
17:7578275 TP53 G>A	17	7578275	7578275	G	A	TP53	c.574C>T	NM_000546.6	NP_000537.3:p.(Gln192Ter)	NC_000017.10:g.7578275G>A	(Likely) pathogenic	1 lab	1e7f3d0007
11:2185609 TH G>A	11	2185609	2185609	G	A	TH	c.1348C>T	NM_000360.4	NP_000351.2:p.(Arg450Cys)	NC_000011.9:g.2185609G>A	VUS	1 lab	424989cb1b
9:140260970 EXD3 C>T	9	140260970	140260970	C	T	EXD3	c.631G>A	NM_017820.5	NP_060290.3:p.(Gly211Ser)	NC_000009.11:g.140260970C>T	(Likely) benign	1 lab	424a76d577
10:50944064 OGDHL T>C	10	50944064	50944064	T	C	OGDHL	c.2909+5A>G	NM_018245.3	NP_060715.2:p.?	NC_000010.10:g.50944064T>C	(Likely) benign	1 lab	424d60f522
6:131915481 MED23 A>G	6	131915481	131915481	A	G	MED23	c.2996-6T>C	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131915481A>G	(Likely) benign	1 lab	424d74c34f
10:70178896 DNA2 C>G	10	70178896	70178896	C	G	DNA2	c.2862G>C	NM_001080449.3	NP_001073918.2:p.(Leu954Phe)	NC_000010.10:g.70178896C>G	VUS	1 lab	424d9b3437
11:108129695 ATM T>C	11	108129695	108129695	T	C	ATM	c.2377-18T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129695T>C	VUS	1 lab	424eeaeadf
11:13379969 BMAL1 ATTG>A	11	13379969	13379977	ATTG	A	BMAL1	c.222-6_222-4del	NM_001297719.2	NP_001284648.1:p.?	NC_000011.9:g.13379975_13379977del	(Likely) benign	1 lab	424f3d8292
17:58740382 PPM1D G>C	17	58740382	58740382	G	C	PPM1D	c.1287G>C	NM_003620.4	NP_003611.1:p.(Arg429Ser)	NC_000017.10:g.58740382G>C	(Likely) benign	1 lab	42501ad899
11:6652358 DCHS1 G>A	11	6652358	6652358	G	A	DCHS1	c.3856C>T	NM_003737.4	NP_003728.1:p.(His1286Tyr)	NC_000011.9:g.6652358G>A	(Likely) benign	1 lab	425021a24a
16:29824978 PRRT2 C>G	16	29824978	29824978	C	G	PRRT2	c.603C>G	NM_145239.3	NP_660282.2:p.(His201Gln)	NC_000016.9:g.29824978C>G	VUS	1 lab	42505aa765
2:238259802 COL6A3 G>A	2	238259802	238259802	G	A	COL6A3	c.6787C>T	NM_004369.4	NP_004360.2:p.(Arg2263Ter)	NC_000002.11:g.238259802G>A	(Likely) pathogenic	1 lab	425345df51
17:44061185 MAPT G>A	17	44061185	44061185	G	A	MAPT	c.1015G>A	NM_001123066.3	NP_001116538.2:p.(Gly339Ser)	NC_000017.10:g.44061185G>A	(Likely) benign	1 lab	340268a034
2:169873316 ABCB11 GA>G	2	169873316	169873325	GA	G	ABCB11	c.77-8del	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169873325del	(Likely) benign	1 lab	4253b139df
19:50119404 PRR12 G>A	19	50119404	50119404	G	A	PRR12	c.5425G>A	NM_020719.3	NP_065770.1:p.(Ala1809Thr)	NC_000019.9:g.50119404G>A	(Likely) benign	1 lab	4253fa001e
1:228461966 OBSCN C>T	1	228461966	228461966	C	T	OBSCN	c.6629C>T	NM_001386125.1	NP_001373054.1:p.(Ala2210Val)	NC_000001.10:g.228461966C>T	(Likely) benign	1 lab	42554ded77
12:115120995 TBX3 G>A	12	115120995	115120995	G	A	TBX3	c.11C>T	NM_005996.4	NP_005987.3:p.(Ser4Phe)	NC_000012.11:g.115120995G>A	(Likely) benign	1 lab	425568c97e
22:23917200 IGLL1 G>A	22	23917200	23917200	G	A	IGLL1	c.276C>T	NM_020070.4	NP_064455.1:p.(Asn92=)	NC_000022.10:g.23917200G>A	(Likely) benign	1 lab	4255af65cd
11:93911762 PANX1 A>G	11	93911762	93911762	A	G	PANX1	c.545+4A>G	NM_015368.4	NP_056183.2:p.?	NC_000011.9:g.93911762A>G	(Likely) benign	1 lab	1e7f683b23
16:51173572 SALL1 G>A	16	51173572	51173572	G	A	SALL1	c.2561C>T	NM_002968.3	NP_002959.2:p.(Ser854Leu)	NC_000016.9:g.51173572G>A	VUS	1 lab	425b507c0d
16:3644557 SLX4 T>C	16	3644557	3644557	T	C	SLX4	c.2057A>G	NM_032444.4	NP_115820.2:p.(Asn686Ser)	NC_000016.9:g.3644557T>C	VUS	1 lab	425babccf9
X:140994635 MAGEC1 T>A	X	140994635	140994635	T	A	MAGEC1	c.1445T>A	NM_005462.5	NP_005453.2:p.(Val482Glu)	NC_000023.10:g.140994635T>A	VUS	1 lab	425bda5c31
1:116233954 VANGL1 A>G	1	116233954	116233954	A	G	VANGL1	c.1529A>G	NM_138959.3	NP_620409.1:p.(Lys510Arg)	NC_000001.10:g.116233954A>G	VUS	1 lab	425c63584d
15:57554332 TCF12 A>G	15	57554332	57554332	A	G	TCF12	c.1508A>G	NM_207037.2	NP_996920.1:p.(Asn503Ser)	NC_000015.9:g.57554332A>G	(Likely) benign	1 lab	425e74f357
2:1642700 PXDN G>A	2	1642700	1642700	G	A	PXDN	c.4124C>T	NM_012293.3	NP_036425.1:p.(Thr1375Ile)	NC_000002.11:g.1642700G>A	(Likely) benign	1 lab	4260c31dd3
15:89399224 ACAN C>T	15	89399224	89399224	C	T	ACAN	c.3408C>T	NM_001369268.1	NP_001356197.1:p.(Thr1136=)	NC_000015.9:g.89399224C>T	(Likely) benign	1 lab	426199040d
X:154009534 MPP1 G>A	X	154009534	154009534	G	A	MPP1	c.1204C>T	NM_002436.4	NP_002427.1:p.(Pro402Ser)	NC_000023.10:g.154009534G>A	VUS	1 lab	426234f6c7
19:55325360 KIR2DL4 CAG>C	19	55325360	55325365	CAG	C	KIR2DL4	c.827_828del	NM_001080770.2	NP_001074239.1:p.(Arg276LysfsTer26)	NC_000019.9:g.55325364_55325365del	VUS	1 lab	426258ac38
2:210745675 UNC80 C>G	2	210745675	210745675	C	G	UNC80	c.3977-10C>G	NM_001371986.1	NP_001358915.1:p.?	NC_000002.11:g.210745675C>G	(Likely) benign	1 lab	42635dc928
X:3228431 MXRA5 C>T	X	3228431	3228431	C	T	MXRA5	c.7813G>A	NM_015419.4	NP_056234.2:p.(Gly2605Ser)	NC_000023.10:g.3228431C>T	(Likely) benign	1 lab	4264bfe2cf
X:109310614 TMEM164 G>A	X	109310614	109310614	G	A	TMEM164	c.430G>A	NM_032227.4	NP_115603.2:p.(Val144Ile)	NC_000023.10:g.109310614G>A	VUS	1 lab	426549259a
15:45392329 DUOX2 C>T	15	45392329	45392329	C	T	DUOX2	c.3103G>A	NM_001363711.2	NP_001350640.1:p.(Val1035Met)	NC_000015.9:g.45392329C>T	(Likely) benign	1 lab	42676a8059
16:1256126 CACNA1H G>A	16	1256126	1256126	G	A	CACNA1H	c.2626G>A	NM_021098.3	NP_066921.2:p.(Ala876Thr)	NC_000016.9:g.1256126G>A	(Likely) benign	1 lab	4269154924
20:10023961 ANKEF1 A>G	20	10023961	10023961	A	G	ANKEF1	c.538A>G	NM_022096.6	NP_071379.3:p.(Ile180Val)	NC_000020.10:g.10023961A>G	VUS	1 lab	426a80add2
17:29298096 RNF135 CGGGCCT>C	17	29298096	29298112	CGGGCCT	C	RNF135	c.16_21del	NM_032322.4	NP_115698.3:p.(Leu6_Gly7del)	NC_000017.10:g.29298107_29298112del	(Likely) benign	1 lab	426a8c6667
10:88441367 LDB3 G>A	10	88441367	88441367	G	A	LDB3	c.496G>A	NM_001171610.2	NP_001165081.1:p.(Ala166Thr)	NC_000010.10:g.88441367G>A	(Likely) benign	1 lab	1e7fca5d28
21:47422577 COL6A1 T>C	21	47422577	47422577	T	C	COL6A1	c.2387T>C	NM_001848.3	NP_001839.2:p.(Leu796Pro)	NC_000021.8:g.47422577T>C	VUS	1 lab	426dfbbe96
20:60892450 LAMA5 C>T	20	60892450	60892450	C	T	LAMA5	c.7462G>A	NM_005560.6	NP_005551.3:p.(Ala2488Thr)	NC_000020.10:g.60892450C>T	(Likely) benign	1 lab	426f5b0ef4
2:223085004 PAX3 G>A	2	223085004	223085004	G	A	PAX3	c.1028C>T	NM_181458.4	NP_852123.1:p.(Thr343Met)	NC_000002.11:g.223085004G>A	VUS	1 lab	426fa93631
1:120465339 NOTCH2 T>G	1	120465339	120465339	T	G	NOTCH2	c.4922A>C	NM_024408.4	NP_077719.2:p.(Lys1641Thr)	NC_000001.10:g.120465339T>G	VUS	1 lab	426fbeb719
1:218609444 TGFB2 C>T	1	218609444	218609444	C	T	TGFB2	c.887C>T	NM_003238.6	NP_003229.1:p.(Thr296Ile)	NC_000001.10:g.218609444C>T	VUS	1 lab	427003a9df
17:15848848 ADORA2B C>T	17	15848848	15848848	C	T	ADORA2B	c.286C>T	NM_000676.4	NP_000667.1:p.(Leu96Phe)	NC_000017.10:g.15848848C>T	VUS	1 lab	4270aa89cb
14:75513898 MLH3 C>T	14	75513898	75513898	C	T	MLH3	c.2461G>A	NM_001040108.2	NP_001035197.1:p.(Ala821Thr)	NC_000014.8:g.75513898C>T	VUS	1 lab	4270c8c651
7:151848525 KMT2C AC>A	7	151848525	151848527	AC	A	KMT2C	c.12666+1del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151848527del	(Likely) pathogenic	1 lab	42715c7e65
6:29640309 ZFP57 T>C	6	29640309	29640309	T	C	ZFP57	c.1579A>G	NM_001109809.5	NP_001103279.2:p.(Lys527Glu)	NC_000006.11:g.29640309T>C	(Likely) benign	1 lab	4271a4e18f
5:224587 SDHA C>G	5	224587	224587	C	G	SDHA	c.263C>G	NM_004168.4	NP_004159.2:p.(Ala88Gly)	NC_000005.9:g.224587C>G	VUS	1 lab	42728f9ce0
X:135291618 FHL1 C>T	X	135291618	135291618	C	T	FHL1	c.737-412C>T	NM_001159699.2	NP_001153171.1:p.?	NC_000023.10:g.135291618C>T	(Likely) benign	1 lab	42750fc8f5
17:73127637 NT5C C>T	17	73127637	73127637	C	T	NT5C	c.166G>A	NM_014595.3	NP_055410.1:p.(Asp56Asn)	NC_000017.10:g.73127637C>T	(Likely) benign	1 lab	4276255694
11:119149352 CBL A>G	11	119149352	119149352	A	G	CBL	c.1360A>G	NM_005188.4	NP_005179.2:p.(Asn454Asp)	NC_000011.9:g.119149352A>G	VUS	1 lab	42763e270a
15:75651512 MAN2C1 T>C	15	75651512	75651512	T	C	MAN2C1	c.2047-18A>G	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75651512T>C	VUS	1 lab	427a482bf1
9:14797533 FREM1 C>A	9	14797533	14797533	C	A	FREM1	c.3802G>T	NM_001379081.2	NP_001366010.1:p.(Val1268Phe)	NC_000009.11:g.14797533C>A	(Likely) benign	1 lab	427e4e2611
8:145739430 RECQL4 C>A	8	145739430	145739430	C	A	RECQL4	c.1940G>T	NM_004260.4	NP_004251.4:p.(Arg647Leu)	NC_000008.10:g.145739430C>A	VUS	1 lab	427e7011bd
9:131355264 SPTAN1 C>T	9	131355264	131355264	C	T	SPTAN1	c.3158C>T	NM_001130438.3	NP_001123910.1:p.(Thr1053Ile)	NC_000009.11:g.131355264C>T	(Likely) benign	1 lab	427e7d04bf
11:533485 HRAS G>A	11	533485	533485	G	A	HRAS	c.418C>T	NM_005343.4	NP_005334.1:p.(Pro140Ser)	NC_000011.9:g.533485G>A	VUS	1 lab	427eafffb7
10:70496696 CCAR1 C>G	10	70496696	70496696	C	G	CCAR1	c.137C>G	NM_018237.4	NP_060707.2:p.(Thr46Ser)	NC_000010.10:g.70496696C>G	VUS	1 lab	427edbc7ec
12:31242999 DDX11 G>A	12	31242999	31242999	G	A	DDX11	c.1060G>A	NM_030653.4	NP_085911.2:p.(Gly354Arg)	NC_000012.11:g.31242999G>A	(Likely) benign	1 lab	1e8ba72d73
1:205138856 DSTYK G>T	1	205138856	205138856	G	T	DSTYK	c.759C>A	NM_015375.3	NP_056190.1:p.(His253Gln)	NC_000001.10:g.205138856G>T	(Likely) benign	1 lab	4280744672
19:5914292 CAPS G>C	19	5914292	5914292	G	C	CAPS	c.-51G>C	NM_004058.5	NP_004049.3:p.?	NC_000019.9:g.5914292G>C	VUS	1 lab	42807d8037
15:42982651 STARD9 T>C	15	42982651	42982651	T	C	STARD9	c.8875T>C	NM_020759.3	NP_065810.2:p.(Ser2959Pro)	NC_000015.9:g.42982651T>C	VUS	1 lab	4280a1cd23
2:189849519 COL3A1 C>A	2	189849519	189849519	C	A	COL3A1	c.113C>A	NM_000090.3	NP_000081.1:p.(Ser38Tyr)	NC_000002.11:g.189849519C>A	VUS	1 lab	3420c96feb
1:160099057 ATP1A2 G>A	1	160099057	160099057	G	A	ATP1A2	c.1328G>A	NM_000702.4	NP_000693.1:p.(Arg443Gln)	NC_000001.10:g.160099057G>A	(Likely) benign	1 lab	4283ec27de
11:124740559 ROBO3 C>T	11	124740559	124740559	C	T	ROBO3	c.968C>T	NM_022370.4	NP_071765.2:p.(Thr323Met)	NC_000011.9:g.124740559C>T	(Likely) benign	1 lab	4284da28de
2:20141576 WDR35 T>A	2	20141576	20141576	T	A	WDR35	c.1870A>T	NM_020779.4	NP_065830.2:p.(Ile624Phe)	NC_000002.11:g.20141576T>A	VUS	1 lab	428a55aa87
17:48268811 COL1A1 G>A	17	48268811	48268811	G	A	COL1A1	c.2168C>T	NM_000088.4	NP_000079.2:p.(Ala723Val)	NC_000017.10:g.48268811G>A	VUS	1 lab	428a7b8db7
17:61994782 GH1 C>T	17	61994782	61994782	C	T	GH1	c.541G>A	NM_000515.5	NP_000506.2:p.(Ala181Thr)	NC_000017.10:g.61994782C>T	(Likely) benign	1 lab	428d39ffa4
X:153994469 DKC1 AT>A	X	153994469	153994481	AT	A	DKC1	c.264-10del	NM_001363.5	NP_001354.1:p.?	NC_000023.10:g.153994481del	(Likely) benign	1 lab	428f3895ef
12:122248251 SETD1B G>A	12	122248251	122248251	G	A	SETD1B	c.1400G>A	NM_001353345.2	NP_001340274.1:p.(Arg467Gln)	NC_000012.11:g.122248251G>A	(Likely) benign	1 lab	428f90e334
19:38980336 RYR1 T>C	19	38980336	38980336	T	C	RYR1	c.5814+253T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38980336T>C	VUS	1 lab	4290c6560f
20:30605917 CCM2L G>C	20	30605917	30605917	G	C	CCM2L	c.418G>C	NM_001365692.1	NP_001352621.1:p.(Ala140Pro)	NC_000020.10:g.30605917G>C	VUS	1 lab	429330cec0
17:38249493 NR1D1 T>A	17	38249493	38249493	T	A	NR1D1	c.1688A>T	NM_021724.5	NP_068370.1:p.(Gln563Leu)	NC_000017.10:g.38249493T>A	VUS	1 lab	4293ce29df
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer50)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	429431ea90
X:112022617 AMOT GCTGGAGCAGCAGCAGCAGCAACAGCAA>G	X	112022617	112022657	GCTGGAGCAGCAGCAGCAGCAACAGCAA	G	AMOT	c.2738_2764del	NM_001113490.2	NP_001106962.1:p.(Val913_Pro921del)	NC_000023.10:g.112022631_112022657del	VUS	1 lab	429594b384
3:184072365 CLCN2 C>T	3	184072365	184072365	C	T	CLCN2	c.1478G>A	NM_004366.6	NP_004357.3:p.(Arg493Gln)	NC_000003.11:g.184072365C>T	VUS	1 lab	42965f63be
20:61444632 OGFR CG>C	20	61444632	61444633	CG	C	OGFR	c.1666del	NM_007346.4	NP_031372.2:p.(Glu556ArgfsTer158)	NC_000020.10:g.61444633del	VUS	1 lab	429757a6e5
17:40379689 STAT5B A>T	17	40379689	40379689	A	T	STAT5B	c.143T>A	NM_012448.4	NP_036580.2:p.(Leu48His)	NC_000017.10:g.40379689A>T	VUS	1 lab	429794ec40
6:88221113 SLC35A1 TCAGCACTCACC>T	6	88221113	88221124	TCAGCACTCACC	T	SLC35A1	c.887-3_894del	NM_006416.5	NP_006407.1:p.?	NC_000006.11:g.88221114_88221124del	VUS	1 lab	42995b20c5
17:80788242 TBCD G>A	17	80788242	80788242	G	A	TBCD	c.1318+15432G>A	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788242G>A	VUS	1 lab	429aac7994
2:220333779 SPEG G>A	2	220333779	220333779	G	A	SPEG	c.3491+9G>A	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220333779G>A	(Likely) benign	1 lab	429de17be6
5:71491641 MAP1B C>T	5	71491641	71491641	C	T	MAP1B	c.2459C>T	NM_005909.5	NP_005900.2:p.(Ala820Val)	NC_000005.9:g.71491641C>T	(Likely) benign	1 lab	429e06c5a8
15:57554320 TCF12 G>C	15	57554320	57554320	G	C	TCF12	c.1496G>C	NM_207037.2	NP_996920.1:p.(Ser499Thr)	NC_000015.9:g.57554320G>C	(Likely) benign	1 lab	429f0fe657
3:193007713 ATP13A5 A>T	3	193007713	193007713	A	T	ATP13A5	c.2984T>A	NM_198505.4	NP_940907.2:p.(Val995Glu)	NC_000003.11:g.193007713A>T	VUS	1 lab	429fad9172
3:52393981 DNAH1 G>A	3	52393981	52393981	G	A	DNAH1	c.4457G>A	NM_015512.5	NP_056327.4:p.(Arg1486Gln)	NC_000003.11:g.52393981G>A	VUS	1 lab	429fea9213
8:104664438 RIMS2 A>G	8	104664438	104664438	A	G	RIMS2	c.182A>G	NM_001348484.3	NP_001335413.1:p.(Lys61Arg)	NC_000008.10:g.104664438A>G	(Likely) benign	1 lab	42a12503c5
9:94486654 ROR2 G>A	9	94486654	94486654	G	A	ROR2	c.2122C>T	NM_004560.4	NP_004551.2:p.(Arg708Trp)	NC_000009.11:g.94486654G>A	VUS	1 lab	42a163018c
4:151829906 LRBA T>C	4	151829906	151829906	T	C	LRBA	c.1265A>G	NM_001199282.2	NP_001186211.2:p.(Asn422Ser)	NC_000004.11:g.151829906T>C	VUS	1 lab	1e8d5a7d86
2:179441890 TTN T>C	2	179441890	179441890	T	C	TTN	c.69172A>G	NM_001267550.2	NP_001254479.2:p.(Thr23058Ala)	NC_000002.11:g.179441890T>C	VUS	1 lab	42a26bb030
1:223178706 DISP1 G>A	1	223178706	223178706	G	A	DISP1	c.3967G>A	NM_001377229.1	NP_001364158.1:p.(Glu1323Lys)	NC_000001.10:g.223178706G>A	(Likely) benign	1 lab	42a3910ee3
2:219755048 WNT10A C>G	2	219755048	219755048	C	G	WNT10A	c.719C>G	NM_025216.3	NP_079492.2:p.(Ala240Gly)	NC_000002.11:g.219755048C>G	VUS	1 lab	42a48e50c4
19:48918130 GRIN2D G>A	19	48918130	48918130	G	A	GRIN2D	c.1422G>A	NM_000836.4	NP_000827.2:p.(Pro474=)	NC_000019.9:g.48918130G>A	VUS	1 lab	42a5b4507b
16:72821593 ZFHX3 AGCCGCC>A	16	72821593	72821617	AGCCGCC	A	ZFHX3	c.10576_10581del	NM_006885.4	NP_008816.3:p.(Gly3526_Gly3527del)	NC_000016.9:g.72821612_72821617del	VUS	1 lab	42a613b4a4
17:10298591 MYH8 C>A	17	10298591	10298591	C	A	MYH8	c.4821G>T	NM_002472.3	NP_002463.2:p.(Glu1607Asp)	NC_000017.10:g.10298591C>A	(Likely) benign	1 lab	42a90d0c0a
18:43529548 EPG5 G>A	18	43529548	43529548	G	A	EPG5	c.1399C>T	NM_020964.3	NP_066015.2:p.(Leu467=)	NC_000018.9:g.43529548G>A	(Likely) benign	1 lab	42a9159c01
12:125434994 DHX37 C>T	12	125434994	125434994	C	T	DHX37	c.3086G>A	NM_032656.4	NP_116045.2:p.(Arg1029Gln)	NC_000012.11:g.125434994C>T	(Likely) benign	1 lab	42a94c9f76
X:23693124 PRDX4 C>G	X	23693124	23693124	C	G	PRDX4	c.377C>G	NM_006406.2	NP_006397.1:p.(Thr126Ser)	NC_000023.10:g.23693124C>G	VUS	1 lab	42ac105b90
16:335639 PDIA2 G>T	16	335639	335639	G	T	PDIA2	c.1055G>T	NM_006849.4	NP_006840.2:p.(Gly352Val)	NC_000016.9:g.335639G>T	(Likely) benign	1 lab	42ac42b206
X:36103658 CFAP47 A>G	X	36103658	36103658	A	G	CFAP47	c.4916+3A>G	NM_001304548.2	NP_001291477.1:p.?	NC_000023.10:g.36103658A>G	VUS	1 lab	42acd0b45e
X:50052845 CCNB3 A>G	X	50052845	50052845	A	G	CCNB3	c.1676A>G	NM_033031.3	NP_149020.2:p.(Asp559Gly)	NC_000023.10:g.50052845A>G	VUS	1 lab	42adf6ec5b
10:101563785 ABCC2 C>T	10	101563785	101563785	C	T	ABCC2	c.1219C>T	NM_000392.5	NP_000383.2:p.(Leu407=)	NC_000010.10:g.101563785C>T	(Likely) benign	1 lab	1e913a2e09
6:31557640 NCR3 C>T	6	31557640	31557640	C	T	NCR3	c.307G>A	NM_147130.3	NP_667341.1:p.(Ala103Thr)	NC_000006.11:g.31557640C>T	(Likely) benign	1 lab	42aff56660
3:126709969 PLXNA1 C>T	3	126709969	126709969	C	T	PLXNA1	c.1195-258C>T	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126709969C>T	(Likely) benign	1 lab	42b0bb4019
4:79396653 FRAS1 A>C	4	79396653	79396653	A	C	FRAS1	c.7744A>C	NM_025074.7	NP_079350.5:p.(Asn2582His)	NC_000004.11:g.79396653A>C	VUS	1 lab	42b2316df5
19:54744357 LILRB3 A>ACTGCCACC	19	54744357	54744358	A	ACTGCCACC	LILRB3	c.1050_1051insGGTGGCAG	NM_006864.4	NP_006855.3:p.(Phe351GlyfsTer9)	NC_000019.9:g.54744357_54744358insCTGCCACC	(Likely) benign	1 lab	42b51cb64b
3:49736907 RNF123 A>G	3	49736907	49736907	A	G	RNF123	c.771A>G	NM_022064.5	NP_071347.2:p.(Pro257=)	NC_000003.11:g.49736907A>G	(Likely) benign	1 lab	42b87ba42a
18:43514845 EPG5 C>G	18	43514845	43514845	C	G	EPG5	c.2187G>C	NM_020964.3	NP_066015.2:p.(Gln729His)	NC_000018.9:g.43514845C>G	(Likely) benign	1 lab	42b8bea976
5:60827453 ZSWIM6 T>G	5	60827453	60827453	T	G	ZSWIM6	c.2146T>G	NM_020928.2	NP_065979.1:p.(Cys716Gly)	NC_000005.9:g.60827453T>G	VUS	1 lab	42b9215a08
16:2164831 PKD1 C>A	16	2164831	2164831	C	A	PKD1	c.2193G>T	NM_001009944.3	NP_001009944.3:p.(Pro731=)	NC_000016.9:g.2164831C>A	(Likely) benign	1 lab	42b9c67763
7:27224700 HOXA11 C>T	7	27224700	27224700	C	T	HOXA11	c.64G>A	NM_005523.6	NP_005514.1:p.(Val22Ile)	NC_000007.13:g.27224700C>T	VUS	1 lab	42bae0fab5
16:2165509 PKD1 A>T	16	2165509	2165509	A	T	PKD1	c.1967T>A	NM_001009944.3	NP_001009944.3:p.(Leu656Gln)	NC_000016.9:g.2165509A>T	VUS	1 lab	42bb74e48a
15:49170395 EID1 T>C	15	49170395	49170395	T	C	EID1	c.22T>C	NM_014335.3	NP_055150.1:p.(Ser8Pro)	NC_000015.9:g.49170395T>C	VUS	1 lab	42be8f1389
11:47354494 MYBPC3 G>A	11	47354494	47354494	G	A	MYBPC3	c.3361C>T	NM_000256.3	NP_000247.2:p.(Arg1121Cys)	NC_000011.9:g.47354494G>A	VUS	1 lab	42c0cdb223
3:133748570 SLCO2A1 G>A	3	133748570	133748570	G	A	SLCO2A1	c.77C>T	NM_005630.3	NP_005621.2:p.(Ser26Leu)	NC_000003.11:g.133748570G>A	(Likely) benign	1 lab	42c14d33e6
1:152280857 FLG T>C	1	152280857	152280857	T	C	FLG	c.6505A>G	NM_002016.2	NP_002007.1:p.(Ser2169Gly)	NC_000001.10:g.152280857T>C	(Likely) benign	1 lab	42c23a9a98
18:19752126 GATA6 G>A	18	19752126	19752126	G	A	GATA6	c.1021G>A	NM_005257.6	NP_005248.2:p.(Val341Met)	NC_000018.9:g.19752126G>A	(Likely) benign	1 lab	42c25c6e28
1:22207024 HSPG2 G>A	1	22207024	22207024	G	A	HSPG2	c.2027C>T	NM_005529.7	NP_005520.4:p.(Pro676Leu)	NC_000001.10:g.22207024G>A	VUS	1 lab	42c59c06da
20:57415722 GNAS-AS1 C>A	20	57415722	57415722	C	A	GNAS-AS1	n.672+1270G>T	NR_185847.1		NC_000020.10:g.57415722C>A	(Likely) benign	1 lab	42c5ccfc7f
14:74989568 LTBP2 C>T	14	74989568	74989568	C	T	LTBP2	c.2584G>A	NM_000428.3	NP_000419.1:p.(Val862Met)	NC_000014.8:g.74989568C>T	VUS	1 lab	42c794b078
15:48729161 FBN1 C>A	15	48729161	48729161	C	A	FBN1	c.6493G>T	NM_000138.5	NP_000129.3:p.(Val2165Leu)	NC_000015.9:g.48729161C>A	VUS	1 lab	42c7f1a05a
5:37153889 CPLANE1 C>A	5	37153889	37153889	C	A	CPLANE1	c.8326G>T	NM_001384732.1	NP_001371661.1:p.(Glu2776Ter)	NC_000005.9:g.37153889C>A	VUS	1 lab	42c87d9a06
10:27012850 PDSS1 C>T	10	27012850	27012850	C	T	PDSS1	c.721+4C>T	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27012850C>T	VUS	1 lab	42c9faa5fe
6:152651778 SYNE1 T>C	6	152651778	152651778	T	C	SYNE1	c.14042A>G	NM_182961.4	NP_892006.3:p.(Glu4681Gly)	NC_000006.11:g.152651778T>C	VUS	1 lab	42caf65e9a
2:179494063 TTN A>G	2	179494063	179494063	A	G	TTN	c.44389T>C	NM_001267550.2	NP_001254479.2:p.(Tyr14797His)	NC_000002.11:g.179494063A>G	VUS	1 lab	42cb78e7f0
21:38309277 HLCS G>T	21	38309277	38309277	G	T	HLCS	c.909C>A	NM_001352514.2	NP_001339443.1:p.(Asn303Lys)	NC_000021.8:g.38309277G>T	(Likely) benign	1 lab	42ce0d0a93
19:41898789 EXOSC5 G>A	19	41898789	41898789	G	A	EXOSC5	c.245C>T	NM_020158.4	NP_064543.3:p.(Pro82Leu)	NC_000019.9:g.41898789G>A	VUS	1 lab	42d336bbed
3:9974976 IL17RC T>C	3	9974976	9974976	T	C	IL17RC	c.1862T>C	NM_153460.4	NP_703190.2:p.(Leu621Ser)	NC_000003.11:g.9974976T>C	VUS	1 lab	42d3371bde
5:32739020 NPR3 G>A	5	32739020	32739020	G	A	NPR3	c.943G>A	NM_001204375.2	NP_001191304.1:p.(Ala315Thr)	NC_000005.9:g.32739020G>A	(Likely) pathogenic	1 lab	42d3a6db9b
2:197189708 HECW2 C>T	2	197189708	197189708	C	T	HECW2	c.737G>A	NM_001348768.2	NP_001335697.1:p.(Arg246Gln)	NC_000002.11:g.197189708C>T	VUS	1 lab	42d40012bb
19:14263705 ADGRL1 T>C	19	14263705	14263705	T	C	ADGRL1	c.3314A>G	NM_014921.5	NP_055736.2:p.(Lys1105Arg)	NC_000019.9:g.14263705T>C	(Likely) benign	1 lab	42d5523db3
11:46920442 LRP4 C>T	11	46920442	46920442	C	T	LRP4	c.676+13G>A	NM_002334.3	NP_002325.2:p.?	NC_000011.9:g.46920442C>T	(Likely) benign	1 lab	1ef8ca769f
13:41382568 SLC25A15 C>T	13	41382568	41382568	C	T	SLC25A15	c.623-6C>T	NM_014252.4	NP_055067.1:p.?	NC_000013.10:g.41382568C>T	(Likely) benign	1 lab	42d6c71058
5:13807767 DNAH5 T>C	5	13807767	13807767	T	C	DNAH5	c.7820A>G	NM_001369.3	NP_001360.1:p.(Tyr2607Cys)	NC_000005.9:g.13807767T>C	VUS	1 lab	42d80a7069
16:2816788 SRRM2 C>T	16	2816788	2816788	C	T	SRRM2	c.6259C>T	NM_016333.4	NP_057417.3:p.(Arg2087Cys)	NC_000016.9:g.2816788C>T	VUS	1 lab	42dac4fabd
20:30421500 MYLK2 C>G	20	30421500	30421500	C	G	MYLK2	c.1711-20C>G	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30421500C>G	(Likely) benign	1 lab	1efa804b49
7:73470684 ELN G>A	7	73470684	73470684	G	A	ELN	c.1234G>A	NM_000501.4	NP_000492.2:p.(Gly412Arg)	NC_000007.13:g.73470684G>A	(Likely) benign	1 lab	42dcb818d0
X:18972383 PHKA2 C>T	X	18972383	18972383	C	T	PHKA2	c.226G>A	NM_000292.3	NP_000283.1:p.(Glu76Lys)	NC_000023.10:g.18972383C>T	VUS	1 lab	42ddea6211
11:7064447 NLRP14 C>T	11	7064447	7064447	C	T	NLRP14	c.1190C>T	NM_176822.4	NP_789792.1:p.(Thr397Ile)	NC_000011.9:g.7064447C>T	(Likely) benign	1 lab	42df353e77
2:114201431 ZNG1B G>A	2	114201431	114201431	G	A	ZNG1B	c.329G>A	NM_172003.3	NP_742000.1:p.(Cys110Tyr)	NC_000002.11:g.114201431G>A	VUS	1 lab	42df5342e2
6:129637308 LAMA2 A>G	6	129637308	129637308	A	G	LAMA2	c.4050A>G	NM_000426.4	NP_000417.3:p.(Arg1350=)	NC_000006.11:g.129637308A>G	(Likely) benign	1 lab	42df5f61b6
17:65340813 PSMD12 C>A	17	65340813	65340813	C	A	PSMD12	c.992G>T	NM_002816.5	NP_002807.1:p.(Gly331Val)	NC_000017.10:g.65340813C>A	(Likely) benign	1 lab	42dfc88740
17:65908592 BPTF T>A	17	65908592	65908592	T	A	BPTF	c.4592T>A	NM_182641.4	NP_872579.2:p.(Val1531Glu)	NC_000017.10:g.65908592T>A	VUS	1 lab	42dff503a2
6:13307984 TBC1D7 A>T	6	13307984	13307984	A	T	TBC1D7	c.520-7T>A	NM_016495.6	NP_057579.1:p.?	NC_000006.11:g.13307984A>T	(Likely) benign	1 lab	42e041cbcc
11:6643330 DCHS1 A>G	11	6643330	6643330	A	G	DCHS1	c.9577T>C	NM_003737.4	NP_003728.1:p.(Cys3193Arg)	NC_000011.9:g.6643330A>G	VUS	1 lab	42e0f1ca9c
1:235969317 LYST G>C	1	235969317	235969317	G	C	LYST	c.3119C>G	NM_000081.4	NP_000072.2:p.(Ser1040Cys)	NC_000001.10:g.235969317G>C	(Likely) benign	1 lab	42e0feb04a
20:43058206 HNF4A G>A	20	43058206	43058206	G	A	HNF4A	c.1326G>A	NM_000457.5	NP_000448.3:p.(Gly442=)	NC_000020.10:g.43058206G>A	(Likely) benign	1 lab	42e112f407
2:71895920 DYSF GC>G	2	71895920	71895923	GC	G	DYSF	c.5497del	NM_001130987.2	NP_001124459.1:p.(Leu1833TrpfsTer30)	NC_000002.11:g.71895923del	(Likely) pathogenic	1 lab	42e3055ce2
5:178634632 ADAMTS2 C>T	5	178634632	178634632	C	T	ADAMTS2	c.773G>A	NM_014244.5	NP_055059.2:p.(Arg258His)	NC_000005.9:g.178634632C>T	VUS	1 lab	42e4001692
4:3487347 DOK7 C>T	4	3487347	3487347	C	T	DOK7	c.614C>T	NM_173660.5	NP_775931.3:p.(Pro205Leu)	NC_000004.11:g.3487347C>T	VUS	1 lab	42e516c720
3:49698267 BSN CGTGACT>C	3	49698267	49698273	CGTGACT	C	BSN	c.8990_8995del	NM_003458.4	NP_003449.2:p.(Arg2997_Tyr2999delinsHis)	NC_000003.11:g.49698268_49698273del	VUS	1 lab	42e5372300
7:66458275 SBDS C>T	7	66458275	66458275	C	T	SBDS	c.388G>A	NM_016038.4	NP_057122.2:p.(Val130Met)	NC_000007.13:g.66458275C>T	(Likely) pathogenic	1 lab	42e679ba65
16:29824373 PRRT2 AAG>A	16	29824373	29824376	AAG	A	PRRT2	c.-1_1del	NM_145239.3	NP_660282.2:p.(Met1?)	NC_000016.9:g.29824375_29824376del	VUS	1 lab	42e73c6735
3:46716120 ALS2CL G>C	3	46716120	46716120	G	C	ALS2CL	c.2365C>G	NM_147129.5	NP_667340.2:p.(Gln789Glu)	NC_000003.11:g.46716120G>C	VUS	1 lab	42e9101f06
1:100316684 AGL A>C	1	100316684	100316684	A	C	AGL	c.82+4A>C	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100316684A>C	VUS	1 lab	4315ce9187
9:132428155 PRRX2 C>A	9	132428155	132428155	C	A	PRRX2	c.9C>A	NM_016307.4	NP_057391.1:p.(Ser3Arg)	NC_000009.11:g.132428155C>A	(Likely) benign	1 lab	42e9d4a370
9:21010729 HACD4 T>C	9	21010729	21010729	T	C	HACD4	c.490+859A>G	NM_001010915.5	NP_001010915.2:p.?	NC_000009.11:g.21010729T>C	VUS	1 lab	42e9fe9ff1
9:98211524 PTCH1 G>A	9	98211524	98211524	G	A	PTCH1	c.3631C>T	NM_000264.5	NP_000255.2:p.(Pro1211Ser)	NC_000009.11:g.98211524G>A	VUS	1 lab	42ea6cd608
5:14487786 TRIO C>A	5	14487786	14487786	C	A	TRIO	c.7049C>A	NM_007118.4	NP_009049.2:p.(Pro2350His)	NC_000005.9:g.14487786C>A	VUS	1 lab	42ecdd0bd7
3:4887880 ITPR1 A>G	3	4887880	4887880	A	G	ITPR1	c.8248A>G	NM_001378452.1	NP_001365381.1:p.(Met2750Val)	NC_000003.11:g.4887880A>G	VUS	1 lab	4304265031
2:217339995 SMARCAL1 G>A	2	217339995	217339995	G	A	SMARCAL1	c.2248G>A	NM_014140.4	NP_054859.2:p.(Val750Met)	NC_000002.11:g.217339995G>A	(Likely) benign	1 lab	42eea09916
17:67190517 ABCA10 T>C	17	67190517	67190517	T	C	ABCA10	c.1345+9A>G	NM_001377321.1	NP_001364250.1:p.?	NC_000017.10:g.67190517T>C	(Likely) benign	1 lab	42eed455b1
6:135644408 AHI1 G>A	6	135644408	135644408	G	A	AHI1	c.3220C>T	NM_001134831.2	NP_001128303.1:p.(Arg1074Cys)	NC_000006.11:g.135644408G>A	VUS	1 lab	42f114c97d
2:166854572 SCN1A A>G	2	166854572	166854572	A	G	SCN1A	c.4452T>C	NM_001165963.4	NP_001159435.1:p.(Asp1484=)	NC_000002.11:g.166854572A>G	(Likely) benign	1 lab	42f1bd4fc3
12:121426734 HNF1A C>A	12	121426734	121426734	C	A	HNF1A	c.425C>A	NM_000545.8	NP_000536.6:p.(Ser142Tyr)	NC_000012.11:g.121426734C>A	VUS	1 lab	42f1f497b3
3:48506279 ATRIP G>A	3	48506279	48506279	G	A	ATRIP	c.2105G>A	NM_130384.3	NP_569055.1:p.(Arg702Gln)	NC_000003.11:g.48506279G>A	(Likely) benign	1 lab	42f51efde3
5:176562499 NSD1 G>C	5	176562499	176562499	G	C	NSD1	c.395G>C	NM_022455.5	NP_071900.2:p.(Cys132Ser)	NC_000005.9:g.176562499G>C	(Likely) benign	1 lab	42f5799340
6:117248538 RFX6 C>T	6	117248538	117248538	C	T	RFX6	c.2234C>T	NM_173560.4	NP_775831.2:p.(Ala745Val)	NC_000006.11:g.117248538C>T	(Likely) benign	1 lab	42f59e1d39
4:17818905 NCAPG A>G	4	17818905	17818905	A	G	NCAPG	c.797A>G	NM_022346.5	NP_071741.2:p.(Gln266Arg)	NC_000004.11:g.17818905A>G	(Likely) benign	1 lab	42fb5d79ff
2:26415218 HADHA C>T	2	26415218	26415218	C	T	HADHA	c.1961G>A	NM_000182.5	NP_000173.2:p.(Ser654Asn)	NC_000002.11:g.26415218C>T	(Likely) benign	1 lab	42fbb48390
11:17409176 KCNJ11 C>T	11	17409176	17409176	C	T	KCNJ11	c.463G>A	NM_000525.4	NP_000516.3:p.(Val155Met)	NC_000011.9:g.17409176C>T	VUS	1 lab	42fdb2742c
8:99170083 POP1 C>G	8	99170083	99170083	C	G	POP1	c.2659C>G	NM_001145860.2	NP_001139332.1:p.(His887Asp)	NC_000008.10:g.99170083C>G	(Likely) benign	1 lab	42fe4e790e
11:17122910 PIK3C2A C>T	11	17122910	17122910	C	T	PIK3C2A	c.3923G>A	NM_002645.4	NP_002636.2:p.(Arg1308His)	NC_000011.9:g.17122910C>T	VUS	1 lab	42ffc3e68b
9:139733838 RABL6 C>T	9	139733838	139733838	C	T	RABL6	c.1658C>T	NM_024718.5	NP_078994.3:p.(Ser553Leu)	NC_000009.11:g.139733838C>T	(Likely) benign	1 lab	4301d78c2a
9:740787 KANK1 T>TTA	9	740787	740788	T	TTA	KANK1	c.3554-5_3554-4insTA	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740787_740788insTA	(Likely) benign	1 lab	4307108464
10:94391697 KIF11 GT>G	10	94391697	94391699	GT	G	KIF11	c.1495-544del	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94391699del	(Likely) benign	1 lab	4308a8ef04
3:114251645 ZBTB20 T>C	3	114251645	114251645	T	C	ZBTB20	c.-294-32407A>G	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114251645T>C	(Likely) benign	1 lab	430a52dc4f
20:60894001 LAMA5 G>A	20	60894001	60894001	G	A	LAMA5	c.6940C>T	NM_005560.6	NP_005551.3:p.(Arg2314Trp)	NC_000020.10:g.60894001G>A	(Likely) benign	1 lab	430adcdb76
14:94008977 UNC79 G>A	14	94008977	94008977	G	A	UNC79	c.1690G>A	NM_001395159.1	NP_001382088.1:p.(Val564Ile)	NC_000014.8:g.94008977G>A	(Likely) benign	1 lab	430beb4b72
16:3293129 MEFV A>G	16	3293129	3293129	A	G	MEFV	c.*12T>C	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293129A>G	(Likely) benign	1 lab	1efc263bff
20:61040502 GATA5 G>A	20	61040502	61040502	G	A	GATA5	c.932C>T	NM_080473.5	NP_536721.1:p.(Ser311Leu)	NC_000020.10:g.61040502G>A	VUS	1 lab	4310d16e63
1:53322866 ZYG11A T>C	1	53322866	53322866	T	C	ZYG11A	c.453T>C	NM_001004339.3	NP_001004339.2:p.(Asn151=)	NC_000001.10:g.53322866T>C	VUS	1 lab	43113934a2
18:67992757 SOCS6 G>A	18	67992757	67992757	G	A	SOCS6	c.853G>A	NM_004232.4	NP_004223.2:p.(Val285Met)	NC_000018.9:g.67992757G>A	VUS	1 lab	431271b9fa
21:33044424 SCAF4 G>A	21	33044424	33044424	G	A	SCAF4	c.2732C>T	NM_020706.2	NP_065757.1:p.(Pro911Leu)	NC_000021.8:g.33044424G>A	VUS	1 lab	43492fae6d
10:102546760 PAX2 C>T	10	102546760	102546760	C	T	PAX2	c.616+5638C>T	NM_000278.5	NP_000269.3:p.?	NC_000010.10:g.102546760C>T	(Likely) benign	1 lab	431336c6dd
21:38853090 DYRK1A G>A	21	38853090	38853090	G	A	DYRK1A	c.451G>A	NM_001347721.2	NP_001334650.1:p.(Glu151Lys)	NC_000021.8:g.38853090G>A	VUS	1 lab	4316457807
13:52524211 ATP7B T>A	13	52524211	52524211	T	A	ATP7B	c.2662A>T	NM_000053.4	NP_000044.2:p.(Thr888Ser)	NC_000013.10:g.52524211T>A	(Likely) pathogenic	1 lab	4318a65afc
1:230841824 AGT C>G	1	230841824	230841824	C	G	AGT	c.952G>C	NM_001384479.1	NP_001371408.1:p.(Asp318His)	NC_000001.10:g.230841824C>G	(Likely) benign	1 lab	431938910a
15:99440087 IGF1R G>A	15	99440087	99440087	G	A	IGF1R	c.1055G>A	NM_000875.5	NP_000866.1:p.(Gly352Glu)	NC_000015.9:g.99440087G>A	(Likely) benign	1 lab	431a9ae6aa
17:61498178 TANC2 T>A	17	61498178	61498178	T	A	TANC2	c.5087T>A	NM_001394998.1	NP_001381927.1:p.(Ile1696Asn)	NC_000017.10:g.61498178T>A	VUS	1 lab	431dbd1f37
20:23966615 GGTLC1 C>G	20	23966615	23966615	C	G	GGTLC1	c.305-4G>C	NM_178311.3	NP_842563.1:p.?	NC_000020.10:g.23966615C>G	(Likely) benign	1 lab	431dbd8b76
17:27061201 NEK8 C>T	17	27061201	27061201	C	T	NEK8	c.248C>T	NM_178170.3	NP_835464.1:p.(Ala83Val)	NC_000017.10:g.27061201C>T	VUS	1 lab	431f61affa
1:210856990 KCNH1 G>A	1	210856990	210856990	G	A	KCNH1	c.2603C>T	NM_172362.3	NP_758872.1:p.(Ala868Val)	NC_000001.10:g.210856990G>A	(Likely) benign	1 lab	432007716b
9:117012937 COL27A1 G>A	9	117012937	117012937	G	A	COL27A1	c.3022G>A	NM_032888.4	NP_116277.2:p.(Val1008Met)	NC_000009.11:g.117012937G>A	(Likely) benign	1 lab	43208bd471
6:161158024 PLG T>G	6	161158024	161158024	T	G	PLG	c.1787T>G	NM_000301.5	NP_000292.1:p.(Val596Gly)	NC_000006.11:g.161158024T>G	VUS	1 lab	43214390d3
4:122782738 BBS7 A>C	4	122782738	122782738	A	C	BBS7	c.262T>G	NM_176824.3	NP_789794.1:p.(Ser88Ala)	NC_000004.11:g.122782738A>C	VUS	1 lab	4321529ac3
12:121947719 KDM2B T>TCCCTGC	12	121947719	121947727	T	TCCCTGC	KDM2B	c.1292_1297dup	NM_032590.5	NP_115979.3:p.(Gly431_Arg432dup)	NC_000012.11:g.121947722_121947727dup	VUS	1 lab	43226fb4cc
1:11918519 NPPB C>T	1	11918519	11918519	C	T	NPPB	c.140G>A	NM_002521.3	NP_002512.1:p.(Arg47His)	NC_000001.10:g.11918519C>T	(Likely) benign	1 lab	43227247d2
16:2220636 TRAF7 C>T	16	2220636	2220636	C	T	TRAF7	c.253C>T	NM_032271.3	NP_115647.2:p.(Arg85Cys)	NC_000016.9:g.2220636C>T	VUS	1 lab	4322b85299
X:101911045 GPRASP1 C>T	X	101911045	101911045	C	T	GPRASP1	c.2204C>T	NM_001184727.2	NP_001171656.1:p.(Thr735Ile)	NC_000023.10:g.101911045C>T	(Likely) benign	1 lab	43234b1cde
9:135937449 CEL C>T	9	135937449	135937449	C	T	CEL	c.60C>T	NM_001807.6	NP_001798.3:p.(Ala20=)	NC_000009.11:g.135937449C>T	(Likely) benign	1 lab	43250edfb4
7:148544362 EZH2 T>C	7	148544362	148544362	T	C	EZH2	c.29A>G	NM_004456.5	NP_004447.2:p.(Lys10Arg)	NC_000007.13:g.148544362T>C	VUS	1 lab	4327ab0478
1:1961609 GABRD G>A	1	1961609	1961609	G	A	GABRD	c.1247G>A	NM_000815.5	NP_000806.2:p.(Arg416His)	NC_000001.10:g.1961609G>A	VUS	1 lab	43285fdc33
11:61511060 DAGLA C>T	11	61511060	61511060	C	T	DAGLA	c.2228C>T	NM_006133.3	NP_006124.1:p.(Ser743Leu)	NC_000011.9:g.61511060C>T	(Likely) benign	1 lab	4328f30ce4
2:97334794 FER1L5 T>G	2	97334794	97334794	T	G	FER1L5	c.1282T>G	NM_001293083.2	NP_001280012.1:p.(Phe428Val)	NC_000002.11:g.97334794T>G	VUS	1 lab	43297bbcc3
15:89401035 ACAN C>A	15	89401035	89401035	C	A	ACAN	c.5219C>A	NM_001369268.1	NP_001356197.1:p.(Ser1740Ter)	NC_000015.9:g.89401035C>A	(Likely) pathogenic	1 lab	432ab5fd74
5:127680098 FBN2 T>G	5	127680098	127680098	T	G	FBN2	c.3322A>C	NM_001999.4	NP_001990.2:p.(Met1108Leu)	NC_000005.9:g.127680098T>G	(Likely) benign	1 lab	432acbed2a
10:89472987 PAPSS2 C>T	10	89472987	89472987	C	T	PAPSS2	c.301C>T	NM_001015880.2	NP_001015880.1:p.(Arg101Cys)	NC_000010.10:g.89472987C>T	VUS	1 lab	432b12bf1e
1:22154628 HSPG2 C>T	1	22154628	22154628	C	T	HSPG2	c.12427G>A	NM_005529.7	NP_005520.4:p.(Glu4143Lys)	NC_000001.10:g.22154628C>T	VUS	1 lab	432d1b72a2
X:140993884 MAGEC1 C>G	X	140993884	140993884	C	G	MAGEC1	c.694C>G	NM_005462.5	NP_005453.2:p.(Pro232Ala)	NC_000023.10:g.140993884C>G	VUS	1 lab	432e017e84
9:98209631 PTCH1 G>A	9	98209631	98209631	G	A	PTCH1	c.3907C>T	NM_000264.5	NP_000255.2:p.(Arg1303Cys)	NC_000009.11:g.98209631G>A	(Likely) benign	1 lab	432f48badc
5:149755443 TCOF1 G>A	5	149755443	149755443	G	A	TCOF1	c.1864G>A	NM_001371623.1	NP_001358552.1:p.(Glu622Lys)	NC_000005.9:g.149755443G>A	(Likely) benign	1 lab	432f4a9d08
13:111125423 COL4A2 G>A	13	111125423	111125423	G	A	COL4A2	c.2351G>A	NM_001846.4	NP_001837.2:p.(Arg784Gln)	NC_000013.10:g.111125423G>A	(Likely) benign	1 lab	432f88aada
4:74021354 ANKRD17 A>C	4	74021354	74021354	A	C	ANKRD17	c.994T>G	NM_032217.5	NP_115593.3:p.(Ser332Ala)	NC_000004.11:g.74021354A>C	VUS	1 lab	433009d3f6
19:11326610 DOCK6 G>A	19	11326610	11326610	G	A	DOCK6	c.3895-7C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11326610G>A	(Likely) benign	1 lab	43315c4ddf
11:64669850 ATG2A C>G	11	64669850	64669850	C	G	ATG2A	c.3786G>C	NM_015104.3	NP_055919.2:p.(Glu1262Asp)	NC_000011.9:g.64669850C>G	VUS	1 lab	433162c74a
21:46067225 TSPEAR C>CG	21	46067225	46067226	C	CG	TSPEAR	c.82+64122dup	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46067226dup	VUS	1 lab	4331be7e01
9:98229610 PTCH1 C>T	9	98229610	98229610	C	T	PTCH1	c.2348G>A	NM_000264.5	NP_000255.2:p.(Arg783Gln)	NC_000009.11:g.98229610C>T	(Likely) benign	1 lab	433299b042
1:161141673 B4GALT3 C>T	1	161141673	161141673	C	T	B4GALT3	c.1115G>A	NM_003779.4	NP_003770.1:p.(Arg372His)	NC_000001.10:g.161141673C>T	VUS	1 lab	43450deb1b
17:40714887 COASY G>T	17	40714887	40714887	G	T	COASY	c.247G>T	NM_025233.7	NP_079509.5:p.(Val83Phe)	NC_000017.10:g.40714887G>T	VUS	1 lab	433560691c
16:2029313 TBL3 G>C	16	2029313	2029313	G	C	TBL3	c.*627G>C	NM_006453.3	NP_006444.2:p.?	NC_000016.9:g.2029313G>C	VUS	1 lab	4337a5f82d
X:54011666 PHF8 AG>A	X	54011666	54011668	AG	A	PHF8	c.2130-7del	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54011668del	(Likely) benign	1 lab	4337c91661
6:53989362 MLIP C>T	6	53989362	53989362	C	T	MLIP	c.344C>T	NM_001281747.2	NP_001268676.1:p.(Thr115Met)	NC_000006.11:g.53989362C>T	VUS	1 lab	433a56627c
12:57944148 KIF5A C>A	12	57944148	57944148	C	A	KIF5A	c.94C>A	NM_004984.4	NP_004975.2:p.(Pro32Thr)	NC_000012.11:g.57944148C>A	VUS	1 lab	433cf179ca
20:31292298 COMMD7 CA>C	20	31292298	31292313	CA	C	COMMD7	c.428-8del	NM_053041.3	NP_444269.2:p.?	NC_000020.10:g.31292313del	VUS	1 lab	433f007d36
9:140707956 EHMT1 A>G	9	140707956	140707956	A	G	EHMT1	c.3154A>G	NM_024757.5	NP_079033.4:p.(Ile1052Val)	NC_000009.11:g.140707956A>G	VUS	1 lab	433f2c815c
17:48655638 CACNA1G C>T	17	48655638	48655638	C	T	CACNA1G	c.2014C>T	NM_018896.5	NP_061496.2:p.(Arg672Trp)	NC_000017.10:g.48655638C>T	(Likely) benign	1 lab	433fa7362d
3:97506863 ARL6 T>C	3	97506863	97506863	T	C	ARL6	c.379T>C	NM_001278293.3	NP_001265222.1:p.(Phe127Leu)	NC_000003.11:g.97506863T>C	VUS	1 lab	433fcbee5e
1:110134697 GNAI3 A>G	1	110134697	110134697	A	G	GNAI3	c.907A>G	NM_006496.4	NP_006487.1:p.(Ile303Val)	NC_000001.10:g.110134697A>G	VUS	1 lab	4341257c1d
21:47841917 PCNT C>G	21	47841917	47841917	C	G	PCNT	c.7058C>G	NM_006031.6	NP_006022.3:p.(Pro2353Arg)	NC_000021.8:g.47841917C>G	(Likely) benign	1 lab	4341b33068
1:155311884 ASH1L T>C	1	155311884	155311884	T	C	ASH1L	c.8303A>G	NM_018489.3	NP_060959.2:p.(Lys2768Arg)	NC_000001.10:g.155311884T>C	(Likely) benign	1 lab	4342896c5e
1:144930623 PDE4DIP C>G	1	144930623	144930623	C	G	PDE4DIP	c.835-6802G>C	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144930623C>G	VUS	1 lab	43461d0cd6
21:33067203 SCAF4 T>C	21	33067203	33067203	T	C	SCAF4	c.1159A>G	NM_020706.2	NP_065757.1:p.(Thr387Ala)	NC_000021.8:g.33067203T>C	(Likely) benign	1 lab	4348eec262
2:55786098 PPP4R3B T>C	2	55786098	55786098	T	C	PPP4R3B	c.2267A>G	NM_001122964.3	NP_001116436.3:p.(Glu756Gly)	NC_000002.11:g.55786098T>C	(Likely) benign	1 lab	4349153075
3:37089010 MLH1 G>A	3	37089010	37089010	G	A	MLH1	c.1732G>A	NM_000249.4	NP_000240.1:p.(Glu578Lys)	NC_000003.11:g.37089010G>A	VUS	1 lab	434b34ce38
15:99467920 IGF1R C>CT	15	99467920	99467922	C	CT	IGF1R	c.2782+9dup	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467922dup	(Likely) benign	1 lab	434b924ab4
21:34060664 SYNJ1 C>T	21	34060664	34060664	C	T	SYNJ1	c.803G>A	NM_203446.3	NP_982271.3:p.(Arg268His)	NC_000021.8:g.34060664C>T	VUS	1 lab	434be63727
7:69064958 AUTS2 AC>A	7	69064958	69064964	AC	A	AUTS2	c.309+16del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69064964del	(Likely) benign	1 lab	1f03c368ed
16:1417818 UNKL C>T	16	1417818	1417818	C	T	UNKL	c.1627G>A	NM_001372107.1	NP_001359036.1:p.(Gly543Ser)	NC_000016.9:g.1417818C>T	(Likely) benign	1 lab	434c91fd96
14:68282560 ZFYVE26 C>T	14	68282560	68282560	C	T	ZFYVE26	c.121G>A	NM_015346.4	NP_056161.2:p.(Glu41Lys)	NC_000014.8:g.68282560C>T	VUS	1 lab	434dd434bf
18:77171480 NFATC1 T>C	18	77171480	77171480	T	C	NFATC1	c.1205T>C	NM_001278669.2	NP_001265598.1:p.(Leu402Pro)	NC_000018.9:g.77171480T>C	VUS	1 lab	434df7cdf5
13:39435570 FREM2 C>T	13	39435570	39435570	C	T	FREM2	c.7522C>T	NM_207361.6	NP_997244.4:p.(Leu2508Phe)	NC_000013.10:g.39435570C>T	(Likely) benign	1 lab	434eeac8f7
6:117248673 RFX6 G>A	6	117248673	117248673	G	A	RFX6	c.2369G>A	NM_173560.4	NP_775831.2:p.(Gly790Glu)	NC_000006.11:g.117248673G>A	(Likely) benign	1 lab	434f2ca297
17:4806322 CHRNE C>T	17	4806322	4806322	C	T	CHRNE	c.37G>A	NM_000080.4	NP_000071.1:p.(Gly13Arg)	NC_000017.10:g.4806322C>T	(Likely) pathogenic	1 lab	4350eea541
16:2161872 PKD1 C>T	16	2161872	2161872	C	T	PKD1	c.3296G>A	NM_001009944.3	NP_001009944.3:p.(Gly1099Asp)	NC_000016.9:g.2161872C>T	VUS	1 lab	435293e08f
10:88992675 NUTM2A C>T	10	88992675	88992675	C	T	NUTM2A	c.1667C>T	NM_001099338.2	NP_001092808.1:p.(Thr556Met)	NC_000010.10:g.88992675C>T	VUS	1 lab	43538ad0c5
7:64292303 ZNF138 G>T	7	64292303	64292303	G	T	ZNF138	c.683G>T	NM_001271639.2	NP_001258568.2:p.(Cys228Phe)	NC_000007.13:g.64292303G>T	(Likely) benign	1 lab	4353e4562c
1:228465289 OBSCN C>T	1	228465289	228465289	C	T	OBSCN	c.7963C>T	NM_001386125.1	NP_001373054.1:p.(His2655Tyr)	NC_000001.10:g.228465289C>T	VUS	1 lab	4354e89944
16:28855622 TUFM C>T	16	28855622	28855622	C	T	TUFM	c.851G>A	NM_003321.5	NP_003312.3:p.(Arg284His)	NC_000016.9:g.28855622C>T	VUS	1 lab	4356852f71
2:196759808 DNAH7 A>AT	2	196759808	196759809	A	AT	DNAH7	c.4787dup	NM_018897.3	NP_061720.2:p.(Tyr1596Ter)	NC_000002.11:g.196759809dup	(Likely) benign	1 lab	4356e320f2
15:40703499 IVD AG>A	15	40703499	40703500	AG	A	IVD	c.498del	NM_002225.5	NP_002216.3:p.(Glu166AspfsTer11)	NC_000015.9:g.40703500del	(Likely) pathogenic	1 lab	4358db1497
13:33684211 STARD13 G>A	13	33684211	33684211	G	A	STARD13	c.2846C>T	NM_178006.4	NP_821074.1:p.(Pro949Leu)	NC_000013.10:g.33684211G>A	(Likely) benign	1 lab	435ca80add
12:85677405 ALX1 A>C	12	85677405	85677405	A	C	ALX1	c.282A>C	NM_006982.3	NP_008913.2:p.(Arg94Ser)	NC_000012.11:g.85677405A>C	VUS	1 lab	43601a2a8c
1:8418670 RERE TCTCCCGCTCCCGGAG>T	1	8418670	8418694	TCTCCCGCTCCCGGAG	T	RERE	c.3910_3924del	NM_001042681.2	NP_001036146.1:p.(Leu1304_Glu1308del)	NC_000001.10:g.8418680_8418694del	VUS	1 lab	43616a464a
2:158630601 ACVR1 G>A	2	158630601	158630601	G	A	ACVR1	c.642C>T	NM_001111067.4	NP_001104537.1:p.(Val214=)	NC_000002.11:g.158630601G>A	(Likely) benign	1 lab	43617eddc0
17:73487830 TMEM94 A>G	17	73487830	73487830	A	G	TMEM94	c.1445A>G	NM_014738.6	NP_055553.3:p.(Asn482Ser)	NC_000017.10:g.73487830A>G	(Likely) benign	1 lab	43629474a7
1:75072277 ERICH3 T>C	1	75072277	75072277	T	C	ERICH3	c.1489+8A>G	NM_001002912.5	NP_001002912.4:p.?	NC_000001.10:g.75072277T>C	(Likely) benign	1 lab	43631c333f
22:43286991 PACSIN2 G>A	22	43286991	43286991	G	A	PACSIN2	c.415C>T	NM_001184970.3	NP_001171899.1:p.(Arg139Trp)	NC_000022.10:g.43286991G>A	VUS	1 lab	436324b7ef
8:113326713 CSMD3 C>T	8	113326713	113326713	C	T	CSMD3	c.7494G>A	NM_198123.2	NP_937756.1:p.(Met2498Ile)	NC_000008.10:g.113326713C>T	(Likely) benign	1 lab	43635d91a2
7:94252690 SGCE C>T	7	94252690	94252690	C	T	SGCE	c.410G>A	NM_003919.3	NP_003910.1:p.(Arg137His)	NC_000007.13:g.94252690C>T	(Likely) benign	1 lab	4363e68727
10:105194560 PDCD11 C>T	10	105194560	105194560	C	T	PDCD11	c.3673C>T	NM_014976.2	NP_055791.1:p.(His1225Tyr)	NC_000010.10:g.105194560C>T	(Likely) benign	1 lab	43642d8f21
3:53844054 CACNA1D C>T	3	53844054	53844054	C	T	CACNA1D	c.5921C>T	NM_001128840.3	NP_001122312.1:p.(Pro1974Leu)	NC_000003.11:g.53844054C>T	VUS	1 lab	4364f8fbcf
X:14883592 FANCB C>T	X	14883592	14883592	C	T	FANCB	c.41G>A	NM_001018113.3	NP_001018123.1:p.(Arg14Lys)	NC_000023.10:g.14883592C>T	VUS	1 lab	4365730d3e
9:139396507 NOTCH1 C>T	9	139396507	139396507	C	T	NOTCH1	c.5418G>A	NM_017617.5	NP_060087.3:p.(Met1806Ile)	NC_000009.11:g.139396507C>T	(Likely) benign	1 lab	4368265309
16:1254236 CACNA1H G>A	16	1254236	1254236	G	A	CACNA1H	c.2229G>A	NM_021098.3	NP_066921.2:p.(Thr743=)	NC_000016.9:g.1254236G>A	(Likely) benign	1 lab	1e96a97afa
11:44286555 ALX4 G>A	11	44286555	44286555	G	A	ALX4	c.1085C>T	NM_021926.4	NP_068745.2:p.(Thr362Met)	NC_000011.9:g.44286555G>A	VUS	1 lab	436b2fec58
1:154561127 ADAR T>G	1	154561127	154561127	T	G	ADAR	c.2785A>C	NM_001111.5	NP_001102.3:p.(Lys929Gln)	NC_000001.10:g.154561127T>G	VUS	1 lab	436b5db435
18:55362723 ATP8B1 T>G	18	55362723	55362723	T	G	ATP8B1	c.740A>C	NM_001374385.1	NP_001361314.1:p.(Asp247Ala)	NC_000018.9:g.55362723T>G	VUS	1 lab	436bf34a18
14:105958528 TEDC1 C>T	14	105958528	105958528	C	T	TEDC1	c.311C>T	NM_001367178.1	NP_001354107.1:p.(Ser104Leu)	NC_000014.8:g.105958528C>T	VUS	1 lab	436c000ccf
15:48729575 FBN1 C>T	15	48729575	48729575	C	T	FBN1	c.6323G>A	NM_000138.5	NP_000129.3:p.(Arg2108His)	NC_000015.9:g.48729575C>T	VUS	1 lab	1e96e868a2
18:11689655 GNAL G>T	18	11689655	11689655	G	T	GNAL	c.93G>T	NM_182978.4	NP_892023.1:p.(Gln31His)	NC_000018.9:g.11689655G>T	VUS	1 lab	436cf30a6e
X:152089292 ZNF185 G>T	X	152089292	152089292	G	T	ZNF185	c.656G>T	NM_001395254.1	NP_001382183.1:p.(Arg219Met)	NC_000023.10:g.152089292G>T	VUS	1 lab	436d398c10
15:100591855 ADAMTS17 C>T	15	100591855	100591855	C	T	ADAMTS17	c.2377G>A	NM_139057.4	NP_620688.2:p.(Glu793Lys)	NC_000015.9:g.100591855C>T	(Likely) benign	1 lab	436e41a118
1:52850835 ORC1 T>C	1	52850835	52850835	T	C	ORC1	c.1581A>G	NM_004153.4	NP_004144.2:p.(Gly527=)	NC_000001.10:g.52850835T>C	(Likely) benign	1 lab	436e59dc38
7:96651669 DLX5 G>A	7	96651669	96651669	G	A	DLX5	c.368C>T	NM_005221.6	NP_005212.1:p.(Thr123Ile)	NC_000007.13:g.96651669G>A	VUS	1 lab	436f93b581
9:138664588 KCNT1 C>G	9	138664588	138664588	C	G	KCNT1	c.2036C>G	NM_020822.3	NP_065873.2:p.(Thr679Arg)	NC_000009.11:g.138664588C>G	VUS	1 lab	436f98d29c
20:58489038 SYCP2 G>C	20	58489038	58489038	G	C	SYCP2	c.822C>G	NM_014258.4	NP_055073.2:p.(Asp274Glu)	NC_000020.10:g.58489038G>C	VUS	1 lab	436fd0fb5c
10:104793235 CNNM2 G>C	10	104793235	104793235	G	C	CNNM2	c.1622-16229G>C	NM_017649.5	NP_060119.3:p.?	NC_000010.10:g.104793235G>C	(Likely) benign	1 lab	4370aa219f
X:37028623 FAM47C C>A	X	37028623	37028623	C	A	FAM47C	c.2140C>A	NM_001013736.3	NP_001013758.1:p.(Leu714Ile)	NC_000023.10:g.37028623C>A	(Likely) benign	1 lab	4370bb223f
11:108138075 ATM T>C	11	108138075	108138075	T	C	ATM	c.2638+6T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108138075T>C	VUS	1 lab	4373f073ae
X:24225818 ZFX CTGAT>C	X	24225818	24225826	CTGAT	C	ZFX	c.797-6_797-3del	NM_003410.4	NP_003401.2:p.?	NC_000023.10:g.24225823_24225826del	(Likely) benign	1 lab	43742880b6
15:28478342 HERC2 C>T	15	28478342	28478342	C	T	HERC2	c.4625G>A	NM_004667.6	NP_004658.3:p.(Arg1542His)	NC_000015.9:g.28478342C>T	(Likely) benign	1 lab	437edfb772
19:50101058 PRR12 G>A	19	50101058	50101058	G	A	PRR12	c.3466G>A	NM_020719.3	NP_065770.1:p.(Gly1156Ser)	NC_000019.9:g.50101058G>A	VUS	1 lab	1e998eed08
X:32381050 DMD A>G	X	32381050	32381050	A	G	DMD	c.5180T>C	NM_004006.3	NP_003997.2:p.(Ile1727Thr)	NC_000023.10:g.32381050A>G	VUS	1 lab	4377f1f2eb
11:64573414 MEN1 G>T	11	64573414	64573414	G	T	MEN1	c.1050-172C>A	NM_001370259.2	NP_001357188.2:p.?	NC_000011.9:g.64573414G>T	VUS	1 lab	437831903d
19:38945874 RYR1 G>A	19	38945874	38945874	G	A	RYR1	c.1441-1G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38945874G>A	VUS	1 lab	43783a4f04
8:118543008 MED30 G>A	8	118543008	118543008	G	A	MED30	c.383G>A	NM_080651.4	NP_542382.1:p.(Arg128Gln)	NC_000008.10:g.118543008G>A	VUS	1 lab	4378ebf980
7:112102078 IFRD1 G>A	7	112102078	112102078	G	A	IFRD1	c.641G>A	NM_001550.4	NP_001541.2:p.(Cys214Tyr)	NC_000007.13:g.112102078G>A	VUS	1 lab	4379227851
X:52674516 SSX7 C>T	X	52674516	52674516	C	T	SSX7	c.544G>A	NM_173358.2	NP_775494.1:p.(Asp182Asn)	NC_000023.10:g.52674516C>T	(Likely) benign	1 lab	437a034743
16:50338448 ADCY7 G>A	16	50338448	50338448	G	A	ADCY7	c.1546G>A	NM_001114.5	NP_001105.1:p.(Gly516Arg)	NC_000016.9:g.50338448G>A	VUS	1 lab	437a58f4ea
1:152284328 FLG T>A	1	152284328	152284328	T	A	FLG	c.3034A>T	NM_002016.2	NP_002007.1:p.(Thr1012Ser)	NC_000001.10:g.152284328T>A	(Likely) benign	1 lab	437adb19db
16:16248495 ABCC6 C>T	16	16248495	16248495	C	T	ABCC6	c.4198G>A	NM_001171.6	NP_001162.5:p.(Glu1400Lys)	NC_000016.9:g.16248495C>T	VUS	1 lab	437cc35d83
17:5257663 RABEP1 GAAC>G	17	5257663	5257671	GAAC	G	RABEP1	c.979_981del	NM_004703.6	NP_004694.2:p.(Gln327del)	NC_000017.10:g.5257669_5257671del	VUS	1 lab	437d7f06d5
2:109539892 EDAR T>C	2	109539892	109539892	T	C	EDAR	c.374A>G	NM_022336.4	NP_071731.1:p.(Asn125Ser)	NC_000002.11:g.109539892T>C	VUS	1 lab	437da5b47f
19:1393305 NDUFS7 G>A	19	1393305	1393305	G	A	NDUFS7	c.520G>A	NM_024407.5	NP_077718.3:p.(Val174Met)	NC_000019.9:g.1393305G>A	VUS	1 lab	437e9c4302
7:14216519 DGKB C>T	7	14216519	14216519	C	T	DGKB	c.2249G>A	NM_001350709.2	NP_001337638.1:p.(Ser750Asn)	NC_000007.13:g.14216519C>T	VUS	1 lab	437ed61067
8:145750298 LRRC24 C>T	8	145750298	145750298	C	T	LRRC24	c.61G>A	NM_001024678.4	NP_001019849.2:p.(Ala21Thr)	NC_000008.10:g.145750298C>T	(Likely) benign	1 lab	437f1d89c1
2:234681041 UGT1A1 G>A	2	234681041	234681041	G	A	UGT1A1	c.1438G>A	NM_000463.3	NP_000454.1:p.(Asp480Asn)	NC_000002.11:g.234681041G>A	VUS	1 lab	437f7ce059
6:43019942 CUL7 C>G	6	43019942	43019942	C	G	CUL7	c.580+5G>C	NM_014780.5	NP_055595.2:p.?	NC_000006.11:g.43019942C>G	VUS	1 lab	437fe7de15
11:6652019 DCHS1 C>G	11	6652019	6652019	C	G	DCHS1	c.4006G>C	NM_003737.4	NP_003728.1:p.(Val1336Leu)	NC_000011.9:g.6652019C>G	VUS	1 lab	438054d170
7:74152424 GTF2I C>G	7	74152424	74152424	C	G	GTF2I	c.1657C>G	NM_032999.4	NP_127492.1:p.(Gln553Glu)	NC_000007.13:g.74152424C>G	VUS	1 lab	438272f179
2:225370770 CUL3 A>G	2	225370770	225370770	A	G	CUL3	c.1109T>C	NM_003590.5	NP_003581.1:p.(Ile370Thr)	NC_000002.11:g.225370770A>G	VUS	1 lab	4383229b60
2:73115667 SPR C>T	2	73115667	73115667	C	T	SPR	c.529C>T	NM_003124.5	NP_003115.1:p.(Arg177Cys)	NC_000002.11:g.73115667C>T	VUS	1 lab	43840d6f9a
X:63413058 AMER1 T>C	X	63413058	63413058	T	C	AMER1	c.109A>G	NM_152424.4	NP_689637.3:p.(Thr37Ala)	NC_000023.10:g.63413058T>C	VUS	1 lab	43845d2dcf
14:99925455 SETD3 A>C	14	99925455	99925455	A	C	SETD3	c.413T>G	NM_032233.3	NP_115609.2:p.(Val138Gly)	NC_000014.8:g.99925455A>C	VUS	1 lab	4386a0285d
17:3563598 CTNS G>A	17	3563598	3563598	G	A	CTNS	c.1039G>A	NM_004937.3	NP_004928.2:p.(Val347Ile)	NC_000017.10:g.3563598G>A	(Likely) benign	1 lab	4386dcac12
2:197183552 HECW2 G>A	2	197183552	197183552	G	A	HECW2	c.2062C>T	NM_001348768.2	NP_001335697.1:p.(Pro688Ser)	NC_000002.11:g.197183552G>A	VUS	1 lab	4387f1dd76
17:34079590 GAS2L2 G>A	17	34079590	34079590	G	A	GAS2L2	c.280C>T	NM_139285.4	NP_644814.1:p.(Arg94Trp)	NC_000017.10:g.34079590G>A	VUS	1 lab	4388f39859
19:15302869 NOTCH3 C>A	19	15302869	15302869	C	A	NOTCH3	c.581G>T	NM_000435.3	NP_000426.2:p.(Cys194Phe)	NC_000019.9:g.15302869C>A	(Likely) pathogenic	1 lab	4389b29fec
5:150923292 FAT2 GCA>G	5	150923292	150923296	GCA	G	FAT2	c.7394_7395del	NM_001447.3	NP_001438.1:p.(Val2465AlafsTer22)	NC_000005.9:g.150923295_150923296del	(Likely) pathogenic	1 lab	438a578c7c
X:128722992 OCRL T>G	X	128722992	128722992	T	G	OCRL	c.2469+2T>G	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128722992T>G	VUS	1 lab	438b9b8647
6:42978652 PPP2R5D C>T	6	42978652	42978652	C	T	PPP2R5D	c.1588C>T	NM_006245.4	NP_006236.1:p.(Pro530Ser)	NC_000006.11:g.42978652C>T	(Likely) benign	1 lab	438c8cc4fa
7:75130942 SPDYE5 C>T	7	75130942	75130942	C	T	SPDYE5	c.1012C>T	NM_001306141.4	NP_001293070.1:p.(Arg338Trp)	NC_000007.13:g.75130942C>T	VUS	1 lab	438dc99678
15:99456316 IGF1R G>A	15	99456316	99456316	G	A	IGF1R	c.1633G>A	NM_000875.5	NP_000866.1:p.(Gly545Ser)	NC_000015.9:g.99456316G>A	VUS	1 lab	438e19a76a
13:100635012 ZIC2 C>A	13	100635012	100635012	C	A	ZIC2	c.694C>A	NM_007129.5	NP_009060.2:p.(His232Asn)	NC_000013.10:g.100635012C>A	VUS	1 lab	1e9d035037
8:145738764 RECQL4 ACC>A	8	145738764	145738767	ACC	A	RECQL4	c.2297_2298delinsC	NM_004260.4	NP_004251.4:p.(Arg766ProfsTer77)	NC_000008.10:g.145738766_145738767del	VUS	1 lab	4390f5c365
1:3599694 TP73 G>A	1	3599694	3599694	G	A	TP73	c.136G>A	NM_005427.4	NP_005418.1:p.(Asp46Asn)	NC_000001.10:g.3599694G>A	VUS	1 lab	43950dacb0
1:152286299 FLG G>A	1	152286299	152286299	G	A	FLG	c.1063C>T	NM_002016.2	NP_002007.1:p.(Gln355Ter)	NC_000001.10:g.152286299G>A	(Likely) pathogenic	1 lab	43959a5e05
18:67691992 RTTN C>G	18	67691992	67691992	C	G	RTTN	c.5916G>C	NM_173630.4	NP_775901.3:p.(Gln1972His)	NC_000018.9:g.67691992C>G	(Likely) benign	1 lab	4396001aee
1:1575785 CDK11B G>A	1	1575785	1575785	G	A	CDK11B	c.1104C>T	NM_033486.3	NP_277021.2:p.(Ser368=)	NC_000001.10:g.1575785G>A	(Likely) benign	1 lab	439762f720
18:28598629 DSC3 T>TA	18	28598629	28598630	T	TA	DSC3	c.1077+2dup	NM_024423.4	NP_077741.2:p.?	NC_000018.9:g.28598630dup	VUS	1 lab	1e9dd19824
15:89398738 ACAN T>C	15	89398738	89398738	T	C	ACAN	c.2922T>C	NM_001369268.1	NP_001356197.1:p.(Ser974=)	NC_000015.9:g.89398738T>C	(Likely) benign	1 lab	439806aad0
6:51523922 PKHD1 C>A	6	51523922	51523922	C	A	PKHD1	c.11002G>T	NM_138694.4	NP_619639.3:p.(Asp3668Tyr)	NC_000006.11:g.51523922C>A	VUS	1 lab	439807a163
11:86118683 CCDC81 C>A	11	86118683	86118683	C	A	CCDC81	c.909C>A	NM_001156474.2	NP_001149946.1:p.(His303Gln)	NC_000011.9:g.86118683C>A	(Likely) benign	1 lab	4398fde637
8:143960459 CYP11B1 G>A	8	143960459	143960459	G	A	CYP11B1	c.384C>T	NM_000497.4	NP_000488.3:p.(Gly128=)	NC_000008.10:g.143960459G>A	VUS	1 lab	439b8129c1
X:69670691 DLG3 G>A	X	69670691	69670691	G	A	DLG3	c.985+58G>A	NM_021120.4	NP_066943.2:p.?	NC_000023.10:g.69670691G>A	VUS	1 lab	439c38bff3
7:116340076 MET T>C	7	116340076	116340076	T	C	MET	c.938T>C	NM_000245.4	NP_000236.2:p.(Val313Ala)	NC_000007.13:g.116340076T>C	VUS	1 lab	439c57e0d5
9:119115071 PAPPA C>G	9	119115071	119115071	C	G	PAPPA	c.4051C>G	NM_002581.5	NP_002572.2:p.(Pro1351Ala)	NC_000009.11:g.119115071C>G	(Likely) benign	1 lab	439d69506f
9:139960737 SAPCD2 C>T	9	139960737	139960737	C	T	SAPCD2	c.661G>A	NM_178448.4	NP_848543.2:p.(Ala221Thr)	NC_000009.11:g.139960737C>T	(Likely) benign	1 lab	43a12baca5
18:22008833 IMPACT G>T	18	22008833	22008833	G	T	IMPACT	c.166G>T	NM_018439.4	NP_060909.2:p.(Val56Leu)	NC_000018.9:g.22008833G>T	VUS	1 lab	43a1c09a0f
5:1409226 SLC6A3 G>C	5	1409226	1409226	G	C	SLC6A3	c.1413C>G	NM_001044.5	NP_001035.1:p.(Val471=)	NC_000005.9:g.1409226G>C	(Likely) benign	1 lab	1f0c1e5a5e
10:61833285 ANK3 C>G	10	61833285	61833285	C	G	ANK3	c.7354G>C	NM_020987.5	NP_066267.2:p.(Glu2452Gln)	NC_000010.10:g.61833285C>G	(Likely) benign	1 lab	43a3b4c140
9:119094614 PAPPA G>A	9	119094614	119094614	G	A	PAPPA	c.3264G>A	NM_002581.5	NP_002572.2:p.(Ala1088=)	NC_000009.11:g.119094614G>A	(Likely) benign	1 lab	43a41f4a80
7:44190589 GCK A>T	7	44190589	44190589	A	T	GCK	c.449T>A	NM_000162.5	NP_000153.1:p.(Phe150Tyr)	NC_000007.13:g.44190589A>T	(Likely) pathogenic	1 lab	43a65faaad
19:45901520 PPP1R13L A>C	19	45901520	45901520	A	C	PPP1R13L	c.55+2T>G	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45901520A>C	VUS	1 lab	44795fb7fd
4:140640720 MAML3 C>T	4	140640720	140640720	C	T	MAML3	c.3174G>A	NM_018717.5	NP_061187.3:p.(Met1058Ile)	NC_000004.11:g.140640720C>T	(Likely) benign	1 lab	43a7b93ab1
9:34648992 GALT C>T	9	34648992	34648992	C	T	GALT	c.821-3C>T	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34648992C>T	(Likely) benign	1 lab	43a7ba7cda
1:3753151 CEP104 G>A	1	3753151	3753151	G	A	CEP104	c.1225C>T	NM_014704.4	NP_055519.1:p.(Arg409Trp)	NC_000001.10:g.3753151G>A	VUS	1 lab	43a8eb74ae
12:110234464 TRPV4 G>A	12	110234464	110234464	G	A	TRPV4	c.1198C>T	NM_021625.5	NP_067638.3:p.(Arg400Trp)	NC_000012.11:g.110234464G>A	(Likely) benign	1 lab	43a9121fc9
4:82013537 PRKG2 T>C	4	82013537	82013537	T	C	PRKG2	c.2193+3A>G	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82013537T>C	VUS	1 lab	43a931b2d7
10:64575641 EGR2 T>C	10	64575641	64575641	T	C	EGR2	c.149A>G	NM_000399.5	NP_000390.2:p.(Gln50Arg)	NC_000010.10:g.64575641T>C	(Likely) benign	1 lab	43aa5d13fe
2:179436904 TTN A>G	2	179436904	179436904	A	G	TTN	c.73955T>C	NM_001267550.2	NP_001254479.2:p.(Ile24652Thr)	NC_000002.11:g.179436904A>G	VUS	1 lab	43ab94e95d
1:43913225 SZT2 A>G	1	43913225	43913225	A	G	SZT2	c.9296A>G	NM_001365999.1	NP_001352928.1:p.(Glu3099Gly)	NC_000001.10:g.43913225A>G	VUS	1 lab	43abcf0bbc
15:34049737 RYR3 C>T	15	34049737	34049737	C	T	RYR3	c.8645C>T	NM_001036.6	NP_001027.3:p.(Pro2882Leu)	NC_000015.9:g.34049737C>T	VUS	1 lab	43acb6c47d
2:220420897 OBSL1 C>T	2	220420897	220420897	C	T	OBSL1	c.4454G>A	NM_015311.3	NP_056126.1:p.(Arg1485Gln)	NC_000002.11:g.220420897C>T	(Likely) benign	1 lab	43b0631e67
16:89348451 ANKRD11 T>TGCTCGTCCCTGTGATGCCGCAGGA	16	89348451	89348497	T	TGCTCGTCCCTGTGATGCCGCAGGA	ANKRD11	c.4475_4498dup	NM_013275.6	NP_037407.4:p.(Leu1492_Glu1499dup)	NC_000016.9:g.89348474_89348497dup	(Likely) benign	1 lab	43b077af7f
12:102174362 GNPTAB G>C	12	102174362	102174362	G	C	GNPTAB	c.609C>G	NM_024312.5	NP_077288.2:p.(Ser203Arg)	NC_000012.11:g.102174362G>C	(Likely) benign	1 lab	43b2563be2
2:166900216 SCN1A G>A	2	166900216	166900216	G	A	SCN1A	c.2006C>T	NM_001165963.4	NP_001159435.1:p.(Pro669Leu)	NC_000002.11:g.166900216G>A	VUS	1 lab	43b28b23f3
X:153038857 PLXNB3 C>T	X	153038857	153038857	C	T	PLXNB3	c.3079C>T	NM_005393.3	NP_005384.2:p.(Arg1027Trp)	NC_000023.10:g.153038857C>T	VUS	1 lab	43b2be2ee7
2:20131059 WDR35 G>A	2	20131059	20131059	G	A	WDR35	c.2935C>T	NM_020779.4	NP_065830.2:p.(Arg979Ter)	NC_000002.11:g.20131059G>A	VUS	1 lab	43b2c826a4
M:9017 MISSING T>C	M	9017		T	C	MISSING				NC_012920.1:m.9017T>C	VUS	1 lab	463f783d8e
X:128927108 SASH3 CT>C	X	128927108	128927109	CT	C	SASH3	c.946del	NM_018990.4	NP_061863.1:p.(Tyr316MetfsTer99)	NC_000023.10:g.128927109del	VUS	1 lab	43b3463af8
4:1801510 FGFR3 A>C	4	1801510	1801510	A	C	FGFR3	c.416A>C	NM_000142.5	NP_000133.1:p.(Asp139Ala)	NC_000004.11:g.1801510A>C	VUS	1 lab	43b3d1f4bd
3:180364961 CCDC39 T>C	3	180364961	180364961	T	C	CCDC39	c.1433A>G	NM_181426.2	NP_852091.1:p.(Gln478Arg)	NC_000003.11:g.180364961T>C	(Likely) benign	1 lab	43b44722ce
16:2152594 PKD1 TGGAGA>T	16	2152594	2152601	TGGAGA	T	PKD1	c.8984_8988del	NM_001009944.3	NP_001009944.3:p.(Leu2995GlnfsTer72)	NC_000016.9:g.2152597_2152601del	(Likely) pathogenic	1 lab	43b4e80845
14:39565145 SEC23A G>C	14	39565145	39565145	G	C	SEC23A	c.178C>G	NM_006364.4	NP_006355.2:p.(Leu60Val)	NC_000014.8:g.39565145G>C	(Likely) benign	1 lab	43b4ffb0d0
12:121880114 KDM2B G>A	12	121880114	121880114	G	A	KDM2B	c.3130C>T	NM_032590.5	NP_115979.3:p.(Arg1044Trp)	NC_000012.11:g.121880114G>A	(Likely) benign	1 lab	43b57a3ec9
19:50314707 FUZ G>A	19	50314707	50314707	G	A	FUZ	c.405C>T	NM_025129.5	NP_079405.2:p.(Ile135=)	NC_000019.9:g.50314707G>A	(Likely) benign	1 lab	43b96da595
13:77900866 MYCBP2 C>CGAG	13	77900866	77900873	C	CGAG	MYCBP2	c.42_44dup	NM_015057.5	NP_055872.4:p.(Ser15dup)	NC_000013.10:g.77900871_77900873dup	VUS	1 lab	43bb1a5f71
2:179411949 TTN C>G	2	179411949	179411949	C	G	TTN	c.94303G>C	NM_001267550.2	NP_001254479.2:p.(Asp31435His)	NC_000002.11:g.179411949C>G	VUS	1 lab	43bc4a0936
8:11607749 GATA4 C>A	8	11607749	11607749	C	A	GATA4	c.912+4C>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11607749C>A	(Likely) benign	1 lab	43bc7e5885
2:170033079 LRP2 G>A	2	170033079	170033079	G	A	LRP2	c.10413C>T	NM_004525.3	NP_004516.2:p.(Thr3471=)	NC_000002.11:g.170033079G>A	(Likely) benign	1 lab	43bec76f4a
15:67073680 SMAD6 G>T	15	67073680	67073680	G	T	SMAD6	c.1298G>T	NM_005585.5	NP_005576.3:p.(Gly433Val)	NC_000015.9:g.67073680G>T	VUS	1 lab	43c2115b3c
12:49445544 KMT2D T>C	12	49445544	49445544	T	C	KMT2D	c.1922A>G	NM_003482.4	NP_003473.3:p.(Glu641Gly)	NC_000012.11:g.49445544T>C	VUS	1 lab	43c2f8e1de
5:122435524 PRDM6 C>T	5	122435524	122435524	C	T	PRDM6	c.768C>T	NM_001136239.4	NP_001129711.1:p.(Pro256=)	NC_000005.9:g.122435524C>T	(Likely) benign	1 lab	43c368f130
13:50589928 KCNRG CA>C	13	50589928	50589929	CA	C	KCNRG	c.300del	NM_173605.2	NP_775876.1:p.(Tyr101ThrfsTer15)	NC_000013.10:g.50589929del	VUS	1 lab	43c50da065
17:17699220 RAI1 C>T	17	17699220	17699220	C	T	RAI1	c.2958C>T	NM_030665.4	NP_109590.3:p.(Ile986=)	NC_000017.10:g.17699220C>T	(Likely) benign	1 lab	43c764eb5b
14:74825086 VRTN C>T	14	74825086	74825086	C	T	VRTN	c.1600C>T	NM_018228.3	NP_060698.2:p.(Pro534Ser)	NC_000014.8:g.74825086C>T	VUS	1 lab	43c8158d63
1:22148091 LDLRAD2 C>T	1	22148091	22148091	C	T	LDLRAD2	c.792C>T	NM_001013693.3	NP_001013715.2:p.(Asp264=)	NC_000001.10:g.22148091C>T	(Likely) benign	1 lab	43c97d0bf2
1:46597522 PIK3R3 G>A	1	46597522	46597522	G	A	PIK3R3	c.103C>T	NM_003629.4	NP_003620.3:p.(Pro35Ser)	NC_000001.10:g.46597522G>A	VUS	1 lab	43caa07462
X:96171434 DIAPH2 TAG>T	X	96171434	96171436	TAG	T	DIAPH2	c.733-2_733-1del	NM_006729.5	NP_006720.1:p.?	NC_000023.10:g.96171435_96171436del	(Likely) benign	1 lab	43cb9b004e
3:9787103 BRPF1 T>C	3	9787103	9787103	T	C	BRPF1	c.3069-154T>C	NM_001003694.2	NP_001003694.1:p.?	NC_000003.11:g.9787103T>C	(Likely) benign	1 lab	43ccf689ae
1:159902438 IGSF9 G>A	1	159902438	159902438	G	A	IGSF9	c.1109C>T	NM_001135050.2	NP_001128522.1:p.(Pro370Leu)	NC_000001.10:g.159902438G>A	(Likely) benign	1 lab	43cd31e5ef
3:142280254 ATR C>T	3	142280254	142280254	C	T	ATR	c.1180G>A	NM_001184.4	NP_001175.2:p.(Gly394Ser)	NC_000003.11:g.142280254C>T	(Likely) benign	1 lab	43ce07366b
2:54125021 PSME4 T>C	2	54125021	54125021	T	C	PSME4	c.3592A>G	NM_014614.3	NP_055429.2:p.(Ile1198Val)	NC_000002.11:g.54125021T>C	(Likely) benign	1 lab	43ce54e33b
2:27591523 EIF2B4 G>C	2	27591523	27591523	G	C	EIF2B4	c.496C>G	NM_001034116.2	NP_001029288.1:p.(Gln166Glu)	NC_000002.11:g.27591523G>C	VUS	1 lab	43d06ab37b
16:2813054 SRRM2 C>G	16	2813054	2813054	C	G	SRRM2	c.2525C>G	NM_016333.4	NP_057417.3:p.(Pro842Arg)	NC_000016.9:g.2813054C>G	(Likely) benign	1 lab	43dd85ec29
12:129360518 GLT1D1 G>A	12	129360518	129360518	G	A	GLT1D1	c.128G>A	NM_001366886.1	NP_001353815.1:p.(Ser43Asn)	NC_000012.11:g.129360518G>A	(Likely) benign	1 lab	43d14ee32e
12:2714893 CACNA1C G>A	12	2714893	2714893	G	A	CACNA1C	c.3097G>A	NM_000719.7	NP_000710.5:p.(Val1033Met)	NC_000012.11:g.2714893G>A	(Likely) benign	1 lab	43d1cfe2a0
7:101840271 CUX1 C>T	7	101840271	101840271	C	T	CUX1	c.1580C>T	NM_181552.4	NP_853530.2:p.(Pro527Leu)	NC_000007.13:g.101840271C>T	VUS	1 lab	43d3791a91
18:10750155 PIEZO2 C>T	18	10750155	10750155	C	T	PIEZO2	c.4198G>A	NM_001378183.1	NP_001365112.1:p.(Val1400Met)	NC_000018.9:g.10750155C>T	VUS	1 lab	43d598ff18
22:24167608 SMARCB1 A>T	22	24167608	24167608	A	T	SMARCB1	c.986+6A>T	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24167608A>T	(Likely) benign	1 lab	43d626bf03
1:47770668 STIL C>A	1	47770668	47770668	C	A	STIL	c.45G>T	NM_001048166.1	NP_001041631.1:p.(Arg15Ser)	NC_000001.10:g.47770668C>A	VUS	1 lab	43d7663746
22:40045814 CACNA1I T>C	22	40045814	40045814	T	C	CACNA1I	c.1876T>C	NM_021096.4	NP_066919.2:p.(Trp626Arg)	NC_000022.10:g.40045814T>C	VUS	1 lab	43d86969d8
16:1398002 BAIAP3 G>A	16	1398002	1398002	G	A	BAIAP3	c.3133G>A	NM_001199097.2	NP_001186026.1:p.(Asp1045Asn)	NC_000016.9:g.1398002G>A	VUS	1 lab	43d9ce493b
1:16094000 FBLIM1 C>T	1	16094000	16094000	C	T	FBLIM1	c.380C>T	NM_017556.4	NP_060026.2:p.(Ala127Val)	NC_000001.10:g.16094000C>T	VUS	1 lab	43dbefa83f
X:123630906 TENM1 T>C	X	123630906	123630906	T	C	TENM1	c.3655A>G	NM_001163278.2	NP_001156750.1:p.(Ile1219Val)	NC_000023.10:g.123630906T>C	VUS	1 lab	43dc61cfd5
11:63531776 ZFTA C>G	11	63531776	63531776	C	G	ZFTA	c.1319G>C	NM_001144936.2	NP_001138408.1:p.(Gly440Ala)	NC_000011.9:g.63531776C>G	VUS	1 lab	43dd4b8e05
X:39921504 BCOR G>A	X	39921504	39921504	G	A	BCOR	c.4214C>T	NM_017745.6	NP_060215.4:p.(Ser1405Phe)	NC_000023.10:g.39921504G>A	VUS	1 lab	1ea198ae68
2:71894521 DYSF C>A	2	71894521	71894521	C	A	DYSF	c.5333C>A	NM_001130987.2	NP_001124459.1:p.(Pro1778Gln)	NC_000002.11:g.71894521C>A	VUS	1 lab	43df3881fc
14:105174101 INF2 C>G	14	105174101	105174101	C	G	INF2	c.1497C>G	NM_022489.4	NP_071934.3:p.(Cys499Trp)	NC_000014.8:g.105174101C>G	VUS	1 lab	43e05aa806
6:110086283 FIG4 G>GA	6	110086283	110086287	G	GA	FIG4	c.1506dup	NM_014845.6	NP_055660.1:p.(Cys503MetfsTer14)	NC_000006.11:g.110086287dup	VUS	1 lab	43e36f4620
19:42863079 MEGF8 G>A	19	42863079	42863079	G	A	MEGF8	c.5316G>A	NM_001271938.2	NP_001258867.1:p.(Leu1772=)	NC_000019.9:g.42863079G>A	(Likely) benign	1 lab	43e3b51d6e
14:96813521 ATG2B C>T	14	96813521	96813521	C	T	ATG2B	c.320G>A	NM_018036.7	NP_060506.6:p.(Arg107His)	NC_000014.8:g.96813521C>T	(Likely) benign	1 lab	43e42cc3e1
16:8875237 ABAT G>A	16	8875237	8875237	G	A	ABAT	c.1453G>A	NM_020686.6	NP_065737.2:p.(Ala485Thr)	NC_000016.9:g.8875237G>A	VUS	1 lab	43e42ec965
12:121432153 HNF1A C>T	12	121432153	121432153	C	T	HNF1A	c.900C>T	NM_000545.8	NP_000536.6:p.(Pro300=)	NC_000012.11:g.121432153C>T	VUS	1 lab	43e827e705
16:67655456 CTCF C>A	16	67655456	67655456	C	A	CTCF	c.1319C>A	NM_006565.4	NP_006556.1:p.(Pro440His)	NC_000016.9:g.67655456C>A	VUS	1 lab	1ea4a1d743
19:55673129 DNAAF3 T>TGG	19	55673129	55673133	T	TGG	DNAAF3	c.543_544dup	NM_001256715.2	NP_001243644.1:p.(Gln182ProfsTer6)	NC_000019.9:g.55673132_55673133dup	VUS	1 lab	43eb1d0df2
5:1886972 IRX4 C>G	5	1886972	1886972	C	G	IRX4	c.-101+204G>C	NM_001278633.1	NP_001265562.1:p.?	NC_000005.9:g.1886972C>G	(Likely) benign	1 lab	1ea63e08e1
16:30750248 SRCAP G>A	16	30750248	30750248	G	A	SRCAP	c.8887G>A	NM_006662.3	NP_006653.2:p.(Glu2963Lys)	NC_000016.9:g.30750248G>A	(Likely) benign	1 lab	43eda92ecd
2:189917734 COL5A2 C>G	2	189917734	189917734	C	G	COL5A2	c.2564G>C	NM_000393.5	NP_000384.2:p.(Gly855Ala)	NC_000002.11:g.189917734C>G	(Likely) pathogenic	1 lab	43f072e295
4:54362332 LNX1 T>C	4	54362332	54362332	T	C	LNX1	c.1208A>G	NM_001126328.3	NP_001119800.1:p.(Glu403Gly)	NC_000004.11:g.54362332T>C	VUS	1 lab	43f120004d
5:147499874 SPINK5 G>GA	5	147499874	147499884	G	GA	SPINK5	c.2468dup	NM_006846.4	NP_006837.2:p.(Lys824GlufsTer4)	NC_000005.9:g.147499884dup	(Likely) pathogenic	1 lab	43f5608aab
12:48379357 COL2A1 C>T	12	48379357	48379357	C	T	COL2A1	c.1694G>A	NM_001844.5	NP_001835.3:p.(Arg565His)	NC_000012.11:g.48379357C>T	VUS	1 lab	43f58e0ba4
8:22862143 RHOBTB2 A>C	8	22862143	22862143	A	C	RHOBTB2	c.192+4A>C	NM_015178.3	NP_055993.2:p.?	NC_000008.10:g.22862143A>C	(Likely) benign	1 lab	43f5b3885c
X:63412291 AMER1 C>G	X	63412291	63412291	C	G	AMER1	c.876G>C	NM_152424.4	NP_689637.3:p.(Lys292Asn)	NC_000023.10:g.63412291C>G	(Likely) benign	1 lab	43f5dc8baa
15:90171840 KIF7 C>A	15	90171840	90171840	C	A	KIF7	c.3842G>T	NM_198525.3	NP_940927.2:p.(Ser1281Ile)	NC_000015.9:g.90171840C>A	VUS	1 lab	43f744cb98
19:55494459 NLRP2 C>T	19	55494459	55494459	C	T	NLRP2	c.1393C>T	NM_017852.5	NP_060322.1:p.(Leu465Phe)	NC_000019.9:g.55494459C>T	VUS	1 lab	43f7e29cdf
16:2112968 TSC2 C>T	16	2112968	2112968	C	T	TSC2	c.1362-5C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112968C>T	(Likely) benign	1 lab	43f8ae89c1
14:21786012 RPGRIP1 A>G	14	21786012	21786012	A	G	RPGRIP1	c.1306+3A>G	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21786012A>G	(Likely) benign	1 lab	43f8d95b65
11:85977119 EED A>C	11	85977119	85977119	A	C	EED	c.727-6A>C	NM_003797.5	NP_003788.2:p.?	NC_000011.9:g.85977119A>C	(Likely) benign	1 lab	43f980865e
X:100653938 GLA T>G	X	100653938	100653938	T	G	GLA	c.640-4A>C	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100653938T>G	VUS	1 lab	43f9b25ce2
2:20205777 MATN3 G>C	2	20205777	20205777	G	C	MATN3	c.518C>G	NM_002381.5	NP_002372.1:p.(Ala173Gly)	NC_000002.11:g.20205777G>C	VUS	1 lab	43fa6517a8
2:136681962 DARS1 A>G	2	136681962	136681962	A	G	DARS1	c.671T>C	NM_001349.4	NP_001340.2:p.(Ile224Thr)	NC_000002.11:g.136681962A>G	VUS	1 lab	43faf008af
22:39425424 APOBEC3D T>G	22	39425424	39425424	T	G	APOBEC3D	c.662T>G	NM_152426.4	NP_689639.2:p.(Leu221Arg)	NC_000022.10:g.39425424T>G	VUS	1 lab	43fc0143e5
17:10210341 MYH13 T>C	17	10210341	10210341	T	C	MYH13	c.5210A>G	NM_003802.3	NP_003793.2:p.(Asp1737Gly)	NC_000017.10:g.10210341T>C	VUS	1 lab	43fca409bc
20:36952264 BPI A>AC	20	36952264	36952269	A	AC	BPI	c.757-3dup	NM_001725.3	NP_001716.3:p.?	NC_000020.10:g.36952269dup	(Likely) benign	1 lab	43fd89aef7
X:30873574 TAB3 G>A	X	30873574	30873574	G	A	TAB3	c.208C>T	NM_152787.5	NP_690000.3:p.(Arg70Cys)	NC_000023.10:g.30873574G>A	VUS	1 lab	43fdb134ef
13:39265410 FREM2 A>G	13	39265410	39265410	A	G	FREM2	c.3929A>G	NM_207361.6	NP_997244.4:p.(Asn1310Ser)	NC_000013.10:g.39265410A>G	VUS	1 lab	43fef324d7
19:15288506 NOTCH3 G>A	19	15288506	15288506	G	A	NOTCH3	c.4233C>T	NM_000435.3	NP_000426.2:p.(Gly1411=)	NC_000019.9:g.15288506G>A	(Likely) benign	1 lab	44004073bc
14:105416634 AHNAK2 C>G	14	105416634	105416634	C	G	AHNAK2	c.5154G>C	NM_138420.4	NP_612429.2:p.(Gln1718His)	NC_000014.8:g.105416634C>G	(Likely) benign	1 lab	4401d8893c
16:75590101 TMEM231 G>C	16	75590101	75590101	G	C	TMEM231	c.7C>G	NM_001077418.3	NP_001070886.1:p.(Leu3Val)	NC_000016.9:g.75590101G>C	(Likely) benign	1 lab	440261e174
17:39975554 FKBP10 G>A	17	39975554	39975554	G	A	FKBP10	c.820G>A	NM_021939.4	NP_068758.3:p.(Glu274Lys)	NC_000017.10:g.39975554G>A	VUS	1 lab	440690e5c4
4:5624468 EVC2 C>A	4	5624468	5624468	C	A	EVC2	c.2297G>T	NM_147127.5	NP_667338.3:p.(Arg766Leu)	NC_000004.11:g.5624468C>A	(Likely) benign	1 lab	4406997621
22:45970404 FBLN1 A>C	22	45970404	45970404	A	C	FBLN1	c.1711A>C	NM_006486.3	NP_006477.3:p.(Lys571Gln)	NC_000022.10:g.45970404A>C	VUS	1 lab	44077d8ea0
17:7417134 POLR2A C>G	17	7417134	7417134	C	G	POLR2A	c.5551C>G	NM_000937.5	NP_000928.1:p.(Pro1851Ala)	NC_000017.10:g.7417134C>G	VUS	1 lab	4407922de0
16:2159189 PKD1 TGTG>T	16	2159189	2159192	TGTG	T	PKD1	c.5976_5978del	NM_001009944.3	NP_001009944.3:p.(Phe1992_Thr1993delinsLeu)	NC_000016.9:g.2159190_2159192del	(Likely) pathogenic	1 lab	32d16025c6
5:171305607 FBXW11 A>AGT	5	171305607	171305637	A	AGT	FBXW11	c.853-476_853-475dup	NM_001378974.1	NP_001365903.1:p.?	NC_000005.9:g.171305636_171305637dup	(Likely) benign	1 lab	4408d148cb
X:11196249 ARHGAP6 C>T	X	11196249	11196249	C	T	ARHGAP6	c.1600G>A	NM_013427.3	NP_038286.2:p.(Asp534Asn)	NC_000023.10:g.11196249C>T	(Likely) benign	1 lab	440951f2cc
6:116441698 COL10A1 C>G	6	116441698	116441698	C	G	COL10A1	c.1581G>C	NM_000493.4	NP_000484.2:p.(Lys527Asn)	NC_000006.11:g.116441698C>G	(Likely) benign	1 lab	440c9266bb
1:155449777 ASH1L G>A	1	155449777	155449777	G	A	ASH1L	c.2884C>T	NM_018489.3	NP_060959.2:p.(Leu962Phe)	NC_000001.10:g.155449777G>A	VUS	1 lab	440ce48267
X:77914150 RTL3 G>A	X	77914150	77914150	G	A	RTL3	c.-228-5C>T	NM_152694.3	NP_689907.1:p.?	NC_000023.10:g.77914150G>A	(Likely) benign	1 lab	4411ef056e
1:104086070 RNPC3 G>A	1	104086070	104086070	G	A	RNPC3	c.1045+1G>A	NM_017619.4	NP_060089.1:p.?	NC_000001.10:g.104086070G>A	VUS	1 lab	44149284c6
12:49444960 KMT2D G>T	12	49444960	49444960	G	T	KMT2D	c.2506C>A	NM_003482.4	NP_003473.3:p.(Gln836Lys)	NC_000012.11:g.49444960G>T	(Likely) benign	1 lab	4415187e36
12:121416823 HNF1A C>T	12	121416823	121416823	C	T	HNF1A	c.252C>T	NM_000545.8	NP_000536.6:p.(Pro84=)	NC_000012.11:g.121416823C>T	(Likely) benign	1 lab	44157ed4e5
6:121638682 TBC1D32 G>A	6	121638682	121638682	G	A	TBC1D32	c.454C>T	NM_152730.6	NP_689943.4:p.(Arg152Cys)	NC_000006.11:g.121638682G>A	(Likely) benign	1 lab	4416202940
6:157100579 ARID1B C>G	6	157100579	157100579	C	G	ARID1B	c.1765C>G	NM_001374828.1	NP_001361757.1:p.(Pro589Ala)	NC_000006.11:g.157100579C>G	(Likely) benign	1 lab	4416997d12
16:845230 CHTF18 G>A	16	845230	845230	G	A	CHTF18	c.2049G>A	NM_022092.3	NP_071375.1:p.(Ala683=)	NC_000016.9:g.845230G>A	VUS	1 lab	44188f2ce7
12:112856926 PTPN11 G>A	12	112856926	112856926	G	A	PTPN11	c.11G>A	NM_002834.5	NP_002825.3:p.(Arg4Gln)	NC_000012.11:g.112856926G>A	VUS	1 lab	44196b9bc4
1:109815340 CELSR2 CCAG>C	1	109815340	109815348	CCAG	C	CELSR2	c.8139_8141del	NM_001408.3	NP_001399.1:p.(Gln2713del)	NC_000001.10:g.109815346_109815348del	VUS	1 lab	4419c038cf
3:125879703 ALDH1L1 G>T	3	125879703	125879703	G	T	ALDH1L1	c.120C>A	NM_012190.4	NP_036322.2:p.(Asp40Glu)	NC_000003.11:g.125879703G>T	VUS	1 lab	4419c826cc
7:98648970 SMURF1 G>A	7	98648970	98648970	G	A	SMURF1	c.806+10C>T	NM_181349.3	NP_851994.1:p.?	NC_000007.13:g.98648970G>A	(Likely) benign	1 lab	441accac52
14:105416818 AHNAK2 T>C	14	105416818	105416818	T	C	AHNAK2	c.4970A>G	NM_138420.4	NP_612429.2:p.(Lys1657Arg)	NC_000014.8:g.105416818T>C	VUS	1 lab	441c95c75f
2:189873942 COL3A1 A>G	2	189873942	189873942	A	G	COL3A1	c.3818A>G	NM_000090.4	NP_000081.2:p.(Lys1273Arg)	NC_000002.11:g.189873942A>G	(Likely) benign	1 lab	441d07f021
22:19753349 TBX1 G>A	22	19753349	19753349	G	A	TBX1	c.935+1G>A	NM_001379200.1	NP_001366129.1:p.?	NC_000022.10:g.19753349G>A	VUS	1 lab	441eebf881
11:63138693 SLC22A9 C>T	11	63138693	63138693	C	T	SLC22A9	c.489C>T	NM_080866.3	NP_543142.2:p.(Gly163=)	NC_000011.9:g.63138693C>T	VUS	1 lab	441f169556
4:6865812 KIAA0232 C>A	4	6865812	6865812	C	A	KIAA0232	c.3703C>A	NM_014743.3	NP_055558.2:p.(Gln1235Lys)	NC_000004.11:g.6865812C>A	VUS	1 lab	44217abb5d
15:77770817 HMG20A T>C	15	77770817	77770817	T	C	HMG20A	c.872T>C	NM_001304504.2	NP_001291433.1:p.(Val291Ala)	NC_000015.9:g.77770817T>C	(Likely) benign	1 lab	4422f9f4b1
X:99551627 PCDH19 G>A	X	99551627	99551627	G	A	PCDH19	c.3095C>T	NM_001184880.2	NP_001171809.1:p.(Thr1032Ile)	NC_000023.10:g.99551627G>A	VUS	1 lab	442525344e
6:116443121 COL10A1 A>C	6	116443121	116443121	A	C	COL10A1	c.158T>G	NM_000493.4	NP_000484.2:p.(Ile53Arg)	NC_000006.11:g.116443121A>C	(Likely) benign	1 lab	442564a460
16:88872183 CDT1 C>T	16	88872183	88872183	C	T	CDT1	c.738C>T	NM_030928.4	NP_112190.2:p.(Ser246=)	NC_000016.9:g.88872183C>T	(Likely) benign	1 lab	4426119701
9:130941553 CIZ1 G>C	9	130941553	130941553	G	C	CIZ1	c.933C>G	NM_001131016.2	NP_001124488.1:p.(Phe311Leu)	NC_000009.11:g.130941553G>C	(Likely) benign	1 lab	4426320f07
2:215674116 BARD1 C>A	2	215674116	215674116	C	A	BARD1	c.158+20G>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674116C>A	(Likely) benign	1 lab	44288676dc
5:126783249 MEGF10 G>C	5	126783249	126783249	G	C	MEGF10	c.2729G>C	NM_001256545.2	NP_001243474.1:p.(Gly910Ala)	NC_000005.9:g.126783249G>C	(Likely) benign	1 lab	4428bb9486
15:25616923 UBE3A AT>A	15	25616923	25616926	AT	A	UBE3A	c.397del	NM_130839.5	NP_570854.1:p.(Ile133PhefsTer14)	NC_000015.9:g.25616926del	(Likely) pathogenic	1 lab	44298b88fd
16:2161304 PKD1 G>A	16	2161304	2161304	G	A	PKD1	c.3864C>T	NM_001009944.3	NP_001009944.3:p.(His1288=)	NC_000016.9:g.2161304G>A	(Likely) benign	1 lab	4429abc0ff
X:41069869 USP9X C>T	X	41069869	41069869	C	T	USP9X	c.5123C>T	NM_001039591.3	NP_001034680.2:p.(Ala1708Val)	NC_000023.10:g.41069869C>T	VUS	1 lab	442b7f5c77
11:76867067 MYO7A A>G	11	76867067	76867067	A	G	MYO7A	c.400A>G	NM_000260.4	NP_000251.3:p.(Ile134Val)	NC_000011.9:g.76867067A>G	(Likely) benign	1 lab	442bb74b4e
13:111117963 COL4A2 A>G	13	111117963	111117963	A	G	COL4A2	c.1978+10A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111117963A>G	(Likely) benign	1 lab	442bd32129
11:108141971 ATM A>T	11	108141971	108141971	A	T	ATM	c.2922-7A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141971A>T	(Likely) benign	1 lab	442e65e1fd
19:2254252 JSRP1 T>C	19	2254252	2254252	T	C	JSRP1	c.196A>G	NM_144616.4	NP_653217.1:p.(Met66Val)	NC_000019.9:g.2254252T>C	VUS	1 lab	442f365a5e
X:39934117 BCOR G>A	X	39934117	39934117	G	A	BCOR	c.482C>T	NM_001123385.2	NP_001116857.1:p.(Ala161Val)	NC_000023.10:g.39934117G>A	(Likely) benign	1 lab	4430f82134
14:105412295 AHNAK2 A>T	14	105412295	105412295	A	T	AHNAK2	c.9493T>A	NM_138420.4	NP_612429.2:p.(Leu3165Met)	NC_000014.8:g.105412295A>T	(Likely) benign	1 lab	4431aa65ca
19:46285526 DMPK G>A	19	46285526	46285526	G	A	DMPK	c.85C>T	NM_004409.5	NP_004400.4:p.(Leu29Phe)	NC_000019.9:g.46285526G>A	(Likely) benign	1 lab	443258767c
11:67939009 KMT5B C>T	11	67939009	67939009	C	T	KMT5B	c.820+1G>A	NM_017635.5	NP_060105.3:p.?	NC_000011.9:g.67939009C>T	VUS	1 lab	44331cb1f9
X:151870123 MAGEA3 C>G	X	151870123	151870123	C	G	MAGEA3	c.813C>G	NM_005362.4	NP_005353.1:p.(Phe271Leu)	NC_000023.10:g.151870123C>G	(Likely) benign	1 lab	44339ef5b6
2:238277790 COL6A3 A>G	2	238277790	238277790	A	G	COL6A3	c.4316T>C	NM_004369.4	NP_004360.2:p.(Phe1439Ser)	NC_000002.11:g.238277790A>G	VUS	1 lab	4433e503af
20:44505871 ZSWIM3 G>A	20	44505871	44505871	G	A	ZSWIM3	c.674G>A	NM_080752.4	NP_542790.2:p.(Arg225Gln)	NC_000020.10:g.44505871G>A	VUS	1 lab	44340682c8
5:60628644 ZSWIM6 C>A	5	60628644	60628644	C	A	ZSWIM6	c.545C>A	NM_020928.2	NP_065979.1:p.(Ala182Asp)	NC_000005.9:g.60628644C>A	(Likely) benign	1 lab	4434232797
11:46896426 LRP4 T>C	11	46896426	46896426	T	C	LRP4	c.4154A>G	NM_002334.4	NP_002325.2:p.(Asn1385Ser)	NC_000011.9:g.46896426T>C	VUS	1 lab	44361e09f9
12:56081756 ITGA7 T>G	12	56081756	56081756	T	G	ITGA7	c.3182A>C	NM_002206.3	NP_002197.2:p.(Lys1061Thr)	NC_000012.11:g.56081756T>G	VUS	1 lab	4437211498
17:37828497 PGAP3 G>A	17	37828497	37828497	G	A	PGAP3	c.*559C>T	NM_033419.5	NP_219487.3:p.?	NC_000017.10:g.37828497G>A	VUS	1 lab	4438038749
9:133339546 ASS1 C>T	9	133339546	133339546	C	T	ASS1	c.412C>T	NM_054012.4	NP_446464.1:p.(Gln138Ter)	NC_000009.11:g.133339546C>T	(Likely) pathogenic	1 lab	4439a77329
5:66459098 MAST4 G>A	5	66459098	66459098	G	A	MAST4	c.4091G>A	NM_001164664.2	NP_001158136.1:p.(Arg1364Gln)	NC_000005.9:g.66459098G>A	VUS	1 lab	4439c732d0
19:7592423 MCOLN1 C>T	19	7592423	7592423	C	T	MCOLN1	c.589C>T	NM_020533.3	NP_065394.1:p.(Pro197Ser)	NC_000019.9:g.7592423C>T	(Likely) benign	1 lab	443bafd596
3:10332682 GHRL AGGAG>A	3	10332682	10332695	AGGAG	A	GHRL	c.-316_-313del	NM_016362.5	NP_057446.1:p.?	NC_000003.11:g.10332692_10332695del	(Likely) benign	1 lab	443cf19ba1
22:42912021 RRP7A A>G	22	42912021	42912021	A	G	RRP7A	c.338T>C	NM_015703.5	NP_056518.2:p.(Val113Ala)	NC_000022.10:g.42912021A>G	VUS	1 lab	443d021c80
13:51530498 RNASEH2B A>G	13	51530498	51530498	A	G	RNASEH2B	c.827A>G	NM_024570.4	NP_078846.2:p.(Asn276Ser)	NC_000013.10:g.51530498A>G	VUS	1 lab	443d2ab75a
9:34660537 IL11RA C>T	9	34660537	34660537	C	T	IL11RA	c.1109C>T	NM_001142784.3	NP_001136256.1:p.(Ala370Val)	NC_000009.11:g.34660537C>T	(Likely) benign	1 lab	44403cc7fa
14:55369293 GCH1 G>C	14	55369293	55369293	G	C	GCH1	c.89C>G	NM_000161.3	NP_000152.1:p.(Pro30Arg)	NC_000014.8:g.55369293G>C	VUS	1 lab	4440cf5dbe
2:69040504 ARHGAP25 G>A	2	69040504	69040504	G	A	ARHGAP25	c.760G>A	NM_001007231.3	NP_001007232.2:p.(Glu254Lys)	NC_000002.11:g.69040504G>A	(Likely) benign	1 lab	4440f2ae29
6:31759391 VARS1 G>A	6	31759391	31759391	G	A	VARS1	c.1096C>T	NM_006295.3	NP_006286.1:p.(Arg366Ter)	NC_000006.11:g.31759391G>A	VUS	1 lab	4441336cb3
4:128564998 INTU C>T	4	128564998	128564998	C	T	INTU	c.469C>T	NM_015693.4	NP_056508.2:p.(Arg157Ter)	NC_000004.11:g.128564998C>T	VUS	1 lab	444262f04e
18:6947235 LAMA1 G>A	18	6947235	6947235	G	A	LAMA1	c.8771C>T	NM_005559.4	NP_005550.2:p.(Ser2924Leu)	NC_000018.9:g.6947235G>A	VUS	1 lab	4442812366
10:43088707 ZNF33B T>C	10	43088707	43088707	T	C	ZNF33B	c.1691A>G	NM_006955.3	NP_008886.1:p.(His564Arg)	NC_000010.10:g.43088707T>C	VUS	1 lab	4444ab4a2d
1:196871551 CFHR4 T>C	1	196871551	196871551	T	C	CFHR4	c.62T>C	NM_001201550.3	NP_001188479.1:p.(Val21Ala)	NC_000001.10:g.196871551T>C	(Likely) benign	1 lab	3564630a50
2:88926681 EIF2AK3 C>T	2	88926681	88926681	C	T	EIF2AK3	c.112G>A	NM_004836.7	NP_004827.4:p.(Ala38Thr)	NC_000002.11:g.88926681C>T	VUS	1 lab	4445f6a7c3
3:119084274 ARHGAP31 A>C	3	119084274	119084274	A	C	ARHGAP31	c.203+9A>C	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119084274A>C	(Likely) benign	1 lab	4445fae000
1:155450094 ASH1L G>C	1	155450094	155450094	G	C	ASH1L	c.2567C>G	NM_018489.3	NP_060959.2:p.(Ser856Cys)	NC_000001.10:g.155450094G>C	VUS	1 lab	444872e91a
11:66001638 PACS1 G>A	11	66001638	66001638	G	A	PACS1	c.2029G>A	NM_018026.4	NP_060496.2:p.(Asp677Asn)	NC_000011.9:g.66001638G>A	VUS	1 lab	444973fc19
1:235909698 LYST G>A	1	235909698	235909698	G	A	LYST	c.7910C>T	NM_000081.4	NP_000072.2:p.(Thr2637Met)	NC_000001.10:g.235909698G>A	VUS	1 lab	444a48e03c
20:62324585 RTEL1 G>A	20	62324585	62324585	G	A	RTEL1	c.2941G>A	NM_001283009.2	NP_001269938.1:p.(Glu981Lys)	NC_000020.10:g.62324585G>A	(Likely) benign	1 lab	444bde0725
19:13318668 CACNA1A ACCGC>A	19	13318668	13318673	ACCGC	A	CACNA1A	c.6976_6979del	NM_001127222.2	NP_001120694.1:p.(Ala2326TrpfsTer281)	NC_000019.9:g.13318670_13318673del	(Likely) benign	1 lab	444c4f7b6e
19:53762253 VN1R2 A>G	19	53762253	53762253	A	G	VN1R2	c.625A>G	NM_173856.2	NP_776255.2:p.(Ile209Val)	NC_000019.9:g.53762253A>G	(Likely) benign	1 lab	444cb49273
21:47423393 COL6A1 C>T	21	47423393	47423393	C	T	COL6A1	c.2553C>T	NM_001848.3	NP_001839.2:p.(Phe851=)	NC_000021.8:g.47423393C>T	(Likely) benign	1 lab	444cf052b8
12:51092856 DIP2B G>A	12	51092856	51092856	G	A	DIP2B	c.2196G>A	NM_173602.3	NP_775873.2:p.(Met732Ile)	NC_000012.11:g.51092856G>A	(Likely) benign	1 lab	444f783d7d
1:92763031 GLMN G>A	1	92763031	92763031	G	A	GLMN	c.95C>T	NM_053274.3	NP_444504.1:p.(Ala32Val)	NC_000001.10:g.92763031G>A	(Likely) benign	1 lab	4450de113d
4:151729555 LRBA A>G	4	151729555	151729555	A	G	LRBA	c.5306-5T>C	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151729555A>G	(Likely) benign	1 lab	44517e2adf
2:163138876 IFIH1 C>T	2	163138876	163138876	C	T	IFIH1	c.1306G>A	NM_022168.4	NP_071451.2:p.(Asp436Asn)	NC_000002.11:g.163138876C>T	VUS	1 lab	44525dcfab
8:144998244 PLEC G>GCT	8	144998244	144998245	G	GCT	PLEC	c.5933_5934insAG	NM_000445.5	NP_000436.2:p.(Arg1979AlafsTer64)	NC_000008.10:g.144998244_144998245insCT	(Likely) pathogenic	1 lab	1ea9700fc6
4:1801183 FGFR3 C>T	4	1801183	1801183	C	T	FGFR3	c.312C>T	NM_000142.5	NP_000133.1:p.(Ser104=)	NC_000004.11:g.1801183C>T	(Likely) benign	1 lab	4454a86fe6
20:44049225 PIGT C>G	20	44049225	44049225	C	G	PIGT	c.925C>G	NM_015937.6	NP_057021.2:p.(Leu309Val)	NC_000020.10:g.44049225C>G	(Likely) benign	1 lab	4455b5cbd3
16:88909490 GALNS G>A	16	88909490	88909490	G	A	GALNS	c.121-253C>T	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909490G>A	VUS	1 lab	44578bd315
19:6494714 TUBB4A G>A	19	6494714	6494714	G	A	TUBB4A	c.*461C>T	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6494714G>A	(Likely) benign	1 lab	44589a5609
16:51171226 SALL1 C>T	16	51171226	51171226	C	T	SALL1	c.3772G>A	NM_002968.3	NP_002959.2:p.(Gly1258Ser)	NC_000016.9:g.51171226C>T	VUS	1 lab	44591cacfd
3:126752813 PLXNA1 C>G	3	126752813	126752813	C	G	PLXNA1	c.5644C>G	NM_032242.4	NP_115618.3:p.(Arg1882Gly)	NC_000003.11:g.126752813C>G	VUS	1 lab	4459b9181f
3:184072118 CLCN2 C>T	3	184072118	184072118	C	T	CLCN2	c.1508-16G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184072118C>T	(Likely) benign	1 lab	445ad42633
4:37446782 NWD2 G>A	4	37446782	37446782	G	A	NWD2	c.3172G>A	NM_001144990.2	NP_001138462.1:p.(Ala1058Thr)	NC_000004.11:g.37446782G>A	(Likely) benign	1 lab	445da75a31
17:12908337 ELAC2 G>A	17	12908337	12908337	G	A	ELAC2	c.952C>T	NM_018127.7	NP_060597.4:p.(Gln318Ter)	NC_000017.10:g.12908337G>A	VUS	1 lab	445e9fe2b2
13:35926300 NBEA T>A	13	35926300	35926300	T	A	NBEA	c.6019T>A	NM_001385012.1	NP_001371941.1:p.(Cys2007Ser)	NC_000013.10:g.35926300T>A	(Likely) benign	1 lab	445f09af99
11:76925677 MYO7A C>T	11	76925677	76925677	C	T	MYO7A	c.6584C>T	NM_000260.4	NP_000251.3:p.(Thr2195Ile)	NC_000011.9:g.76925677C>T	VUS	1 lab	445f6c54cb
5:127636611 FBN2 C>T	5	127636611	127636611	C	T	FBN2	c.6064G>A	NM_001999.4	NP_001990.2:p.(Ala2022Thr)	NC_000005.9:g.127636611C>T	VUS	1 lab	4460957e7b
6:43487514 POLR1C C>T	6	43487514	43487514	C	T	POLR1C	c.320C>T	NM_203290.4	NP_976035.1:p.(Ala107Val)	NC_000006.11:g.43487514C>T	VUS	1 lab	4461e2dadf
19:18899200 COMP C>G	19	18899200	18899200	C	G	COMP	c.867+19G>C	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899200C>G	(Likely) benign	1 lab	4462198728
4:351706 ZNF141 C>T	4	351706	351706	C	T	ZNF141	c.226+13487C>T	NM_003441.4	NP_003432.1:p.?	NC_000004.11:g.351706C>T	(Likely) benign	1 lab	4464348c37
19:52728961 PPP2R1A G>A	19	52728961	52728961	G	A	PPP2R1A	c.1662-9G>A	NM_014225.6	NP_055040.2:p.?	NC_000019.9:g.52728961G>A	(Likely) benign	1 lab	4464d238e5
7:139717517 TBXAS1 C>T	7	139717517	139717517	C	T	TBXAS1	c.1411C>T	NM_001061.7	NP_001052.3:p.(Pro471Ser)	NC_000007.13:g.139717517C>T	VUS	1 lab	4466254b82
15:89383276 ACAN G>A	15	89383276	89383276	G	A	ACAN	c.488G>A	NM_001369268.1	NP_001356197.1:p.(Arg163His)	NC_000015.9:g.89383276G>A	VUS	1 lab	4467008f42
17:48650419 CACNA1G T>G	17	48650419	48650419	T	G	CACNA1G	c.1085T>G	NM_018896.5	NP_061496.2:p.(Phe362Cys)	NC_000017.10:g.48650419T>G	VUS	1 lab	4469c3f840
17:10303909 MYH8 C>A	17	10303909	10303909	C	A	MYH8	c.3533G>T	NM_002472.3	NP_002463.2:p.(Arg1178Leu)	NC_000017.10:g.10303909C>A	VUS	1 lab	446c2e4b3b
17:43552767 PLEKHM1 A>G	17	43552767	43552767	A	G	PLEKHM1	c.622T>C	NM_014798.3	NP_055613.1:p.(Ser208Pro)	NC_000017.10:g.43552767A>G	(Likely) benign	1 lab	446c5ec400
17:78032446 CCDC40 A>G	17	78032446	78032446	A	G	CCDC40	c.1313A>G	NM_017950.4	NP_060420.2:p.(Lys438Arg)	NC_000017.10:g.78032446A>G	VUS	1 lab	446c75c49e
5:176721049 NSD1 C>T	5	176721049	176721049	C	T	NSD1	c.6680C>T	NM_022455.5	NP_071900.2:p.(Pro2227Leu)	NC_000005.9:g.176721049C>T	(Likely) benign	1 lab	446c83e562
4:114278191 ANK2 T>C	4	114278191	114278191	T	C	ANK2	c.8417T>C	NM_001148.6	NP_001139.3:p.(Val2806Ala)	NC_000004.11:g.114278191T>C	(Likely) benign	1 lab	446e54d382
X:132351078 TFDP3 C>A	X	132351078	132351078	C	A	TFDP3	c.1210G>T	NM_016521.3	NP_057605.3:p.(Asp404Tyr)	NC_000023.10:g.132351078C>A	(Likely) benign	1 lab	446fe52ca8
15:93540628 CHD2 G>C	15	93540628	93540628	G	C	CHD2	c.3880G>C	NM_001271.4	NP_001262.3:p.(Asp1294His)	NC_000015.9:g.93540628G>C	VUS	1 lab	44712c3048
21:47417691 COL6A1 G>A	21	47417691	47417691	G	A	COL6A1	c.1524+15G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47417691G>A	(Likely) benign	1 lab	4471dc9f7b
10:12139821 DHTKD1 G>T	10	12139821	12139821	G	T	DHTKD1	c.1497G>T	NM_018706.7	NP_061176.4:p.(Arg499Ser)	NC_000010.10:g.12139821G>T	(Likely) benign	1 lab	447409a891
10:48388600 RBP3 C>T	10	48388600	48388600	C	T	RBP3	c.2278G>A	NM_002900.3	NP_002891.1:p.(Val760Met)	NC_000010.10:g.48388600C>T	(Likely) benign	1 lab	4474dcfb53
X:23898976 APOO C>T	X	23898976	23898976	C	T	APOO	c.103G>A	NM_024122.5	NP_077027.1:p.(Val35Met)	NC_000023.10:g.23898976C>T	(Likely) benign	1 lab	4475656e4a
4:57244580 AASDH C>T	4	57244580	57244580	C	T	AASDH	c.402G>A	NM_181806.4	NP_861522.2:p.(Val134=)	NC_000004.11:g.57244580C>T	(Likely) benign	1 lab	447635bfa5
3:42733374 KLHL40 G>A	3	42733374	42733374	G	A	KLHL40	c.1755G>A	NM_152393.4	NP_689606.2:p.(Arg585=)	NC_000003.11:g.42733374G>A	(Likely) benign	1 lab	4476e07d69
11:77817940 ALG8 C>T	11	77817940	77817940	C	T	ALG8	c.1091G>A	NM_024079.5	NP_076984.2:p.(Arg364Gln)	NC_000011.9:g.77817940C>T	(Likely) benign	1 lab	4477f7ba7c
3:139080103 COPB2 G>A	3	139080103	139080103	G	A	COPB2	c.2030C>T	NM_004766.3	NP_004757.1:p.(Ala677Val)	NC_000003.11:g.139080103G>A	VUS	1 lab	4478af691c
5:112163657 APC G>A	5	112163657	112163657	G	A	APC	c.1580G>A	NM_000038.6	NP_000029.2:p.(Arg527Lys)	NC_000005.9:g.112163657G>A	VUS	1 lab	447a15c5c7
3:12626724 RAF1 T>C	3	12626724	12626724	T	C	RAF1	c.1565A>G	NM_002880.4	NP_002871.1:p.(Asn522Ser)	NC_000003.11:g.12626724T>C	VUS	1 lab	447be73559
1:12008080 PLOD1 C>T	1	12008080	12008080	C	T	PLOD1	c.124C>T	NM_000302.4	NP_000293.2:p.(Arg42Cys)	NC_000001.10:g.12008080C>T	VUS	1 lab	447c77fd59
2:27154794 DPYSL5 T>C	2	27154794	27154794	T	C	DPYSL5	c.714+242T>C	NM_020134.4	NP_064519.2:p.?	NC_000002.11:g.27154794T>C	(Likely) benign	1 lab	447d72c724
18:10487919 APCDD1 G>A	18	10487919	10487919	G	A	APCDD1	c.1429G>A	NM_153000.5	NP_694545.1:p.(Ala477Thr)	NC_000018.9:g.10487919G>A	(Likely) benign	1 lab	447e24b631
1:24995772 SRRM1 G>A	1	24995772	24995772	G	A	SRRM1	c.1898G>A	NM_005839.4	NP_005830.2:p.(Arg633Gln)	NC_000001.10:g.24995772G>A	(Likely) benign	1 lab	447e8fe40e
10:124351880 DMBT1 G>A	10	124351880	124351880	G	A	DMBT1	c.2269G>A	NM_001377530.1	NP_001364459.1:p.(Val757Met)	NC_000010.10:g.124351880G>A	VUS	1 lab	447eb02965
12:42538352 GXYLT1 C>A	12	42538352	42538352	C	A	GXYLT1	c.97G>T	NM_173601.2	NP_775872.1:p.(Gly33Ter)	NC_000012.11:g.42538352C>A	(Likely) benign	1 lab	4480fbeece
8:20070331 ATP6V1B2 C>T	8	20070331	20070331	C	T	ATP6V1B2	c.842C>T	NM_001693.4	NP_001684.2:p.(Thr281Ile)	NC_000008.10:g.20070331C>T	VUS	1 lab	4481f11091
1:237656330 RYR2 A>G	1	237656330	237656330	A	G	RYR2	c.1904A>G	NM_001035.3	NP_001026.2:p.(Asn635Ser)	NC_000001.10:g.237656330A>G	VUS	1 lab	4482ba007b
2:189975055 COL5A2 T>C	2	189975055	189975055	T	C	COL5A2	c.218A>G	NM_000393.5	NP_000384.2:p.(Lys73Arg)	NC_000002.11:g.189975055T>C	VUS	1 lab	448348f2b7
19:46285523 DMPK G>A	19	46285523	46285523	G	A	DMPK	c.88C>T	NM_004409.5	NP_004400.4:p.(Leu30=)	NC_000019.9:g.46285523G>A	(Likely) benign	1 lab	44836e3d47
3:44929207 TGM4 A>G	3	44929207	44929207	A	G	TGM4	c.220A>G	NM_003241.4	NP_003232.2:p.(Thr74Ala)	NC_000003.11:g.44929207A>G	(Likely) benign	1 lab	4484d4aec5
19:11541831 ODAD3 C>T	19	11541831	11541831	C	T	ODAD3	c.254G>A	NM_145045.5	NP_659482.3:p.(Arg85Gln)	NC_000019.9:g.11541831C>T	(Likely) benign	1 lab	4485aa4934
X:140994190 MAGEC1 C>G	X	140994190	140994190	C	G	MAGEC1	c.1000C>G	NM_005462.5	NP_005453.2:p.(Pro334Ala)	NC_000023.10:g.140994190C>G	VUS	1 lab	4486017f54
9:99007706 HSD17B3 T>G	9	99007706	99007706	T	G	HSD17B3	c.527A>C	NM_000197.2	NP_000188.1:p.(Gln176Pro)	NC_000009.11:g.99007706T>G	VUS	1 lab	44874d2ffa
7:92761026 SAMD9L C>T	7	92761026	92761026	C	T	SAMD9L	c.4259G>A	NM_152703.5	NP_689916.2:p.(Ser1420Asn)	NC_000007.13:g.92761026C>T	(Likely) benign	1 lab	448768e832
7:6187450 USP42 G>A	7	6187450	6187450	G	A	USP42	c.1313G>A	NM_032172.3	NP_115548.1:p.(Ser438Asn)	NC_000007.13:g.6187450G>A	(Likely) benign	1 lab	44876eb8cd
4:82025517 PRKG2 TATGTACCTGTGTTTCTTA>T	4	82025517	82025539	TATGTACCTGTGTTTCTTA	T	PRKG2	c.2115_2126+6del	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82025522_82025539del	VUS	1 lab	4489e2ad6e
3:126736303 PLXNA1 C>G	3	126736303	126736303	C	G	PLXNA1	c.3312C>G	NM_032242.4	NP_115618.3:p.(Cys1104Trp)	NC_000003.11:g.126736303C>G	VUS	1 lab	448a7ceddb
6:51491863 PKHD1 T>C	6	51491863	51491863	T	C	PKHD1	c.11717A>G	NM_138694.4	NP_619639.3:p.(His3906Arg)	NC_000006.11:g.51491863T>C	VUS	1 lab	448a9c72ea
16:70726877 VAC14 G>A	16	70726877	70726877	G	A	VAC14	c.2036-3C>T	NM_018052.5	NP_060522.3:p.?	NC_000016.9:g.70726877G>A	(Likely) benign	1 lab	448ab21489
2:18745134 NT5C1B CAT>C	2	18745134	18745136	CAT	C	NT5C1B	c.1579_1580del	NM_033253.4	NP_150278.2:p.(Met527ValfsTer4)	NC_000002.11:g.18745135_18745136del	VUS	1 lab	448bbafcc3
5:78340264 DMGDH C>T	5	78340264	78340264	C	T	DMGDH	c.857G>A	NM_013391.3	NP_037523.2:p.(Arg286Gln)	NC_000005.9:g.78340264C>T	(Likely) benign	1 lab	448d781404
15:90216653 PLIN1 G>A	15	90216653	90216653	G	A	PLIN1	c.46-8C>T	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90216653G>A	VUS	1 lab	448e41d758
10:79777479 POLR3A A>G	10	79777479	79777479	A	G	POLR3A	c.1290-5T>C	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79777479A>G	VUS	1 lab	448e7156fd
11:6585626 DNHD1 T>C	11	6585626	6585626	T	C	DNHD1	c.10348T>C	NM_144666.3	NP_653267.2:p.(Tyr3450His)	NC_000011.9:g.6585626T>C	VUS	1 lab	448fa7feb3
2:47641558 MSH2 G>C	2	47641558	47641558	G	C	MSH2	c.942+1G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641558G>C	(Likely) pathogenic	1 lab	44907de5ca
2:113327816 POLR1B G>A	2	113327816	113327816	G	A	POLR1B	c.2074+1337G>A	NM_019014.6	NP_061887.2:p.?	NC_000002.11:g.113327816G>A	(Likely) benign	1 lab	4491df57f3
19:407553 C2CD4C G>A	19	407553	407553	G	A	C2CD4C	c.809C>T	NM_001136263.2	NP_001129735.1:p.(Pro270Leu)	NC_000019.9:g.407553G>A	VUS	1 lab	44922a6f25
13:33628409 KL T>C	13	33628409	33628409	T	C	KL	c.1325T>C	NM_004795.4	NP_004786.2:p.(Leu442Ser)	NC_000013.10:g.33628409T>C	VUS	1 lab	4493b33a20
4:155511830 FGA T>C	4	155511830	155511830	T	C	FGA	c.10A>G	NM_021871.4	NP_068657.1:p.(Met4Val)	NC_000004.11:g.155511830T>C	(Likely) benign	1 lab	4494782652
11:822397 PNPLA2 C>T	11	822397	822397	C	T	PNPLA2	c.487C>T	NM_020376.4	NP_065109.1:p.(Arg163Cys)	NC_000011.9:g.822397C>T	VUS	1 lab	44964f047d
17:1628531 WDR81 G>A	17	1628531	1628531	G	A	WDR81	c.278G>A	NM_001163809.2	NP_001157281.1:p.(Arg93His)	NC_000017.10:g.1628531G>A	(Likely) benign	1 lab	4496d43685
2:228115899 COL4A3 C>G	2	228115899	228115899	C	G	COL4A3	c.590C>G	NM_000091.5	NP_000082.2:p.(Pro197Arg)	NC_000002.11:g.228115899C>G	VUS	1 lab	44978ca577
9:131678539 LRRC8A C>T	9	131678539	131678539	C	T	LRRC8A	c.2322C>T	NM_019594.4	NP_062540.2:p.(Gly774=)	NC_000009.11:g.131678539C>T	(Likely) benign	1 lab	449976b875
15:66995612 SMAD6 C>T	15	66995612	66995612	C	T	SMAD6	c.16C>T	NM_005585.5	NP_005576.3:p.(Arg6Cys)	NC_000015.9:g.66995612C>T	VUS	1 lab	449979dab1
21:35195899 ITSN1 C>G	21	35195899	35195899	C	G	ITSN1	c.3125C>G	NM_003024.3	NP_003015.2:p.(Thr1042Arg)	NC_000021.8:g.35195899C>G	VUS	1 lab	4499e41909
12:132625423 DDX51 C>T	12	132625423	132625423	C	T	DDX51	c.1393G>A	NM_175066.4	NP_778236.2:p.(Asp465Asn)	NC_000012.11:g.132625423C>T	VUS	1 lab	449b57c365
21:47420582 COL6A1 G>A	21	47420582	47420582	G	A	COL6A1	c.1814-91G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47420582G>A	(Likely) benign	1 lab	449dfc0202
11:120201124 TLCD5 G>A	11	120201124	120201124	G	A	TLCD5	c.638G>A	NM_001198671.2	NP_001185600.1:p.(Arg213His)	NC_000011.9:g.120201124G>A	(Likely) benign	1 lab	449ea02cc3
19:15302965 NOTCH3 C>T	19	15302965	15302965	C	T	NOTCH3	c.485G>A	NM_000435.3	NP_000426.2:p.(Cys162Tyr)	NC_000019.9:g.15302965C>T	(Likely) pathogenic	1 lab	449f3dc994
14:102514993 DYNC1H1 C>T	14	102514993	102514993	C	T	DYNC1H1	c.13359C>T	NM_001376.4	NP_001367.2:p.(Asn4453=)	NC_000014.8:g.102514993C>T	(Likely) benign	1 lab	1f55cd05ec
X:153298007 MECP2 C>G	X	153298007	153298007	C	G	MECP2	c.64G>C	NM_001110792.2	NP_001104262.1:p.(Glu22Gln)	NC_000023.10:g.153298007C>G	VUS	1 lab	44a1b90f42
9:3829322 GLIS3 A>G	9	3829322	3829322	A	G	GLIS3	c.2644T>C	NM_001042413.2	NP_001035878.1:p.(Ser882Pro)	NC_000009.11:g.3829322A>G	VUS	1 lab	44a1be6bfd
6:17837708 KIF13A G>T	6	17837708	17837708	G	T	KIF13A	c.937C>A	NM_022113.6	NP_071396.4:p.(Leu313Ile)	NC_000006.11:g.17837708G>T	VUS	1 lab	44a28940df
19:47259276 FKRP G>A	19	47259276	47259276	G	A	FKRP	c.569G>A	NM_024301.5	NP_077277.1:p.(Arg190His)	NC_000019.9:g.47259276G>A	VUS	1 lab	44a2bb0f32
14:91341703 RPS6KA5 T>C	14	91341703	91341703	T	C	RPS6KA5	c.1838A>G	NM_004755.4	NP_004746.2:p.(Tyr613Cys)	NC_000014.8:g.91341703T>C	VUS	1 lab	44a350cd25
12:64679790 C12orf56 C>T	12	64679790	64679790	C	T	C12orf56	c.1164G>A	NM_001170633.2	NP_001164104.1:p.(Pro388=)	NC_000012.11:g.64679790C>T	VUS	1 lab	44a3822113
5:64081303 CWC27 G>A	5	64081303	64081303	G	A	CWC27	c.397-5G>A	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64081303G>A	VUS	1 lab	44a61f481f
2:152448607 NEB C>T	2	152448607	152448607	C	T	NEB	c.14767G>A	NM_001164508.2	NP_001157980.2:p.(Val4923Met)	NC_000002.11:g.152448607C>T	VUS	1 lab	44a65913a7
8:2037988 MYOM2 C>A	8	2037988	2037988	C	A	MYOM2	c.1802C>A	NM_003970.4	NP_003961.3:p.(Ser601Tyr)	NC_000008.10:g.2037988C>A	(Likely) benign	1 lab	1f58261ec3
16:227133 HBA1 G>A	16	227133	227133	G	A	HBA1	c.300+1G>A	NM_000558.5	NP_000549.1:p.?	NC_000016.9:g.227133G>A	(Likely) pathogenic	1 lab	44a86aff6b
6:39883821 MOCS1 G>A	6	39883821	39883821	G	A	MOCS1	c.574C>T	NM_001358530.2	NP_001345459.1:p.(Arg192Cys)	NC_000006.11:g.39883821G>A	VUS	1 lab	44a89fee4d
7:139311411 HIPK2 T>C	7	139311411	139311411	T	C	HIPK2	c.1555A>G	NM_022740.5	NP_073577.3:p.(Ile519Val)	NC_000007.13:g.139311411T>C	(Likely) pathogenic	1 lab	44a91dac1a
9:14819358 FREM1 G>C	9	14819358	14819358	G	C	FREM1	c.2420C>G	NM_001379081.2	NP_001366010.1:p.(Thr807Ser)	NC_000009.11:g.14819358G>C	(Likely) benign	1 lab	44aa0485ea
10:103345881 POLL G>A	10	103345881	103345881	G	A	POLL	c.148C>T	NM_001174084.2	NP_001167555.1:p.(Arg50Cys)	NC_000010.10:g.103345881G>A	(Likely) benign	1 lab	44aa2a8bbc
5:90077179 ADGRV1 G>A	5	90077179	90077179	G	A	ADGRV1	c.13083-68G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90077179G>A	(Likely) benign	1 lab	1f584bf990
6:157099202 ARID1B G>A	6	157099202	157099202	G	A	ARID1B	c.388G>A	NM_001374828.1	NP_001361757.1:p.(Ala130Thr)	NC_000006.11:g.157099202G>A	(Likely) benign	1 lab	44acaa6fc9
13:32786416 FRY T>A	13	32786416	32786416	T	A	FRY	c.4592-13T>A	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32786416T>A	(Likely) benign	1 lab	1eaf1e343d
9:117139152 AKNA A>G	9	117139152	117139152	A	G	AKNA	c.935T>C	NM_001317950.2	NP_001304879.1:p.(Ile312Thr)	NC_000009.11:g.117139152A>G	(Likely) benign	1 lab	44af331995
16:2124318 TSC2 G>C	16	2124318	2124318	G	C	TSC2	c.2473G>C	NM_000548.5	NP_000539.2:p.(Val825Leu)	NC_000016.9:g.2124318G>C	(Likely) benign	1 lab	44b07a689d
19:15483690 AKAP8 G>A	19	15483690	15483690	G	A	AKAP8	c.833C>T	NM_005858.4	NP_005849.1:p.(Ser278Leu)	NC_000019.9:g.15483690G>A	VUS	1 lab	44b08cf18a
1:220279352 IARS2 G>C	1	220279352	220279352	G	C	IARS2	c.1186G>C	NM_018060.4	NP_060530.3:p.(Ala396Pro)	NC_000001.10:g.220279352G>C	VUS	1 lab	44b0a79420
2:148701088 ORC4 G>A	2	148701088	148701088	G	A	ORC4	c.766C>T	NM_181741.4	NP_859525.1:p.(Leu256Phe)	NC_000002.11:g.148701088G>A	(Likely) benign	1 lab	44b11e18e8
22:42611017 TCF20 C>T	22	42611017	42611017	C	T	TCF20	c.295G>A	NM_001378418.1	NP_001365347.1:p.(Val99Met)	NC_000022.10:g.42611017C>T	(Likely) benign	1 lab	44b1c53253
1:63867932 ALG6 A>G	1	63867932	63867932	A	G	ALG6	c.175A>G	NM_013339.4	NP_037471.2:p.(Asn59Asp)	NC_000001.10:g.63867932A>G	VUS	1 lab	44b1cd847e
15:56735910 MNS1 G>A	15	56735910	56735910	G	A	MNS1	c.829C>T	NM_018365.4	NP_060835.1:p.(Gln277Ter)	NC_000015.9:g.56735910G>A	(Likely) pathogenic	1 lab	44b250e0ac
19:38964359 RYR1 G>A	19	38964359	38964359	G	A	RYR1	c.4108G>A	NM_000540.3	NP_000531.2:p.(Ala1370Thr)	NC_000019.9:g.38964359G>A	(Likely) benign	1 lab	44b4263b32
1:22828878 ZBTB40 A>G	1	22828878	22828878	A	G	ZBTB40	c.1111A>G	NM_014870.4	NP_055685.3:p.(Ile371Val)	NC_000001.10:g.22828878A>G	VUS	1 lab	44b4a931ef
9:140777253 CACNA1B A>G	9	140777253	140777253	A	G	CACNA1B	c.448A>G	NM_000718.4	NP_000709.1:p.(Ile150Val)	NC_000009.11:g.140777253A>G	VUS	1 lab	44b4fa3689
20:3559282 ATRN A>G	20	3559282	3559282	A	G	ATRN	c.2407A>G	NM_139321.3	NP_647537.1:p.(Thr803Ala)	NC_000020.10:g.3559282A>G	VUS	1 lab	44b66fa149
16:20975125 DNAH3 C>T	16	20975125	20975125	C	T	DNAH3	c.9943G>A	NM_001347886.2	NP_001334815.1:p.(Val3315Met)	NC_000016.9:g.20975125C>T	(Likely) benign	1 lab	44b9b1214a
7:91855923 KRIT1 G>A	7	91855923	91855923	G	A	KRIT1	c.1063C>T	NM_194456.1	NP_919438.1:p.(Leu355Phe)	NC_000007.13:g.91855923G>A	VUS	1 lab	1eb1af9d38
5:14716917 ANKH T>C	5	14716917	14716917	T	C	ANKH	c.1039A>G	NM_054027.6	NP_473368.1:p.(Asn347Asp)	NC_000005.9:g.14716917T>C	(Likely) benign	1 lab	44bc640c5a
9:139401281 NOTCH1 C>T	9	139401281	139401281	C	T	NOTCH1	c.3788G>A	NM_017617.5	NP_060087.3:p.(Arg1263His)	NC_000009.11:g.139401281C>T	VUS	1 lab	44bcdc02e9
12:13717046 GRIN2B G>T	12	13717046	13717046	G	T	GRIN2B	c.3126C>A	NM_000834.5	NP_000825.2:p.(Phe1042Leu)	NC_000012.11:g.13717046G>T	(Likely) benign	1 lab	44bd5a7066
8:1497215 DLGAP2 A>G	8	1497215	1497215	A	G	DLGAP2	c.596A>G	NM_001346810.2	NP_001333739.1:p.(Gln199Arg)	NC_000008.10:g.1497215A>G	VUS	1 lab	44bdf682d0
7:75051332 POM121C A>T	7	75051332	75051332	A	T	POM121C	c.2203T>A	NM_001099415.3	NP_001092885.2:p.(Ser735Thr)	NC_000007.13:g.75051332A>T	VUS	1 lab	44be34623b
16:21133261 DNAH3 T>C	16	21133261	21133261	T	C	DNAH3	c.1497+5A>G	NM_001347886.2	NP_001334815.1:p.?	NC_000016.9:g.21133261T>C	(Likely) benign	1 lab	44bf4e5ca2
22:29095916 CHEK2 C>G	22	29095916	29095916	C	G	CHEK2	c.918G>C	NM_007194.4	NP_009125.1:p.(Gly306=)	NC_000022.10:g.29095916C>G	(Likely) benign	1 lab	44c3ee2d54
17:38487588 RARA G>C	17	38487588	38487588	G	C	RARA	c.118G>C	NM_000964.4	NP_000955.1:p.(Ala40Pro)	NC_000017.10:g.38487588G>C	VUS	1 lab	45120e0fda
3:12641904 RAF1 C>T	3	12641904	12641904	C	T	RAF1	c.845G>A	NM_002880.4	NP_002871.1:p.(Arg282Gln)	NC_000003.11:g.12641904C>T	(Likely) benign	1 lab	44c439b04d
2:174085981 MAP3K20 G>A	2	174085981	174085981	G	A	MAP3K20	c.987+4003G>A	NM_016653.3	NP_057737.2:p.?	NC_000002.11:g.174085981G>A	(Likely) benign	1 lab	44c716138f
1:27117244 PIGV G>A	1	27117244	27117244	G	A	PIGV	c.-57-6G>A	NM_017837.4	NP_060307.2:p.?	NC_000001.10:g.27117244G>A	(Likely) benign	1 lab	44c7594678
1:97658776 DPYD A>C	1	97658776	97658776	A	C	DPYD	c.2471T>G	NM_000110.4	NP_000101.2:p.(Phe824Cys)	NC_000001.10:g.97658776A>C	VUS	1 lab	44c9727f7d
11:118635947 DDX6 G>A	11	118635947	118635947	G	A	DDX6	c.616C>T	NM_004397.6	NP_004388.2:p.(Arg206Ter)	NC_000011.9:g.118635947G>A	VUS	1 lab	44ca878d1c
5:140953453 DIAPH1 G>T	5	140953453	140953453	G	T	DIAPH1	c.1964C>A	NM_005219.5	NP_005210.3:p.(Pro655His)	NC_000005.9:g.140953453G>T	VUS	1 lab	44ca88336f
3:183966574 ALG3 G>A	3	183966574	183966574	G	A	ALG3	c.155C>T	NM_005787.6	NP_005778.1:p.(Ala52Val)	NC_000003.11:g.183966574G>A	VUS	1 lab	44caf94835
17:10317583 MYH8 C>T	17	10317583	10317583	C	T	MYH8	c.934G>A	NM_002472.3	NP_002463.2:p.(Asp312Asn)	NC_000017.10:g.10317583C>T	VUS	1 lab	44cb2704e9
20:25457481 NINL G>A	20	25457481	25457481	G	A	NINL	c.2446C>T	NM_025176.6	NP_079452.3:p.(Arg816Ter)	NC_000020.10:g.25457481G>A	VUS	1 lab	44cc709615
12:122261013 SETD1B T>G	12	122261013	122261013	T	G	SETD1B	c.4528T>G	NM_001353345.2	NP_001340274.1:p.(Ser1510Ala)	NC_000012.11:g.122261013T>G	VUS	1 lab	44d2154ef8
16:1270242 CACNA1H ATCACCAGCTCCGCCT>A	16	1270242	1270257	ATCACCAGCTCCGCCT	A	CACNA1H	c.6311_6325del	NM_021098.3	NP_066921.2:p.(Ile2104_Cys2109delinsSer)	NC_000016.9:g.1270243_1270257del	VUS	1 lab	44d404fb41
13:28494508 PDX1 C>T	13	28494508	28494508	C	T	PDX1	c.233C>T	NM_000209.4	NP_000200.1:p.(Ala78Val)	NC_000013.10:g.28494508C>T	(Likely) benign	1 lab	44d4973123
1:237811896 RYR2 G>A	1	237811896	237811896	G	A	RYR2	c.7495G>A	NM_001035.3	NP_001026.2:p.(Ala2499Thr)	NC_000001.10:g.237811896G>A	(Likely) benign	1 lab	44e1b49b4e
12:6952813 GNB3 C>T	12	6952813	6952813	C	T	GNB3	c.448C>T	NM_002075.4	NP_002066.1:p.(Arg150Cys)	NC_000012.11:g.6952813C>T	VUS	1 lab	44d80429d9
19:39019704 RYR1 A>G	19	39019704	39019704	A	G	RYR1	c.11141+7A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39019704A>G	(Likely) benign	1 lab	44d8f6aac7
16:88789652 PIEZO1 C>T	16	88789652	88789652	C	T	PIEZO1	c.4420G>A	NM_001142864.4	NP_001136336.2:p.(Ala1474Thr)	NC_000016.9:g.88789652C>T	VUS	1 lab	44db275b89
7:128493607 FLNC T>G	7	128493607	128493607	T	G	FLNC	c.6293T>G	NM_001458.5	NP_001449.3:p.(Val2098Gly)	NC_000007.13:g.128493607T>G	VUS	1 lab	44db55ce3c
16:70708381 MTSS2 C>T	16	70708381	70708381	C	T	MTSS2	c.881G>A	NM_138383.3	NP_612392.1:p.(Gly294Glu)	NC_000016.9:g.70708381C>T	(Likely) benign	1 lab	44dc6ccf38
11:2181169 INS C>T	11	2181169	2181169	C	T	INS	c.246G>A	NM_000207.3	NP_000198.1:p.(Leu82=)	NC_000011.9:g.2181169C>T	(Likely) benign	1 lab	44dd17cdb9
4:126242254 FAT4 T>C	4	126242254	126242254	T	C	FAT4	c.4688T>C	NM_001291303.3	NP_001278232.1:p.(Ile1563Thr)	NC_000004.11:g.126242254T>C	VUS	1 lab	44dd19d1a9
16:86602206 FOXC2 C>T	16	86602206	86602206	C	T	FOXC2	c.1265C>T	NM_005251.3	NP_005242.1:p.(Ala422Val)	NC_000016.9:g.86602206C>T	(Likely) benign	1 lab	44de563f30
9:140637832 EHMT1 C>T	9	140637832	140637832	C	T	EHMT1	c.833C>T	NM_024757.5	NP_079033.4:p.(Pro278Leu)	NC_000009.11:g.140637832C>T	(Likely) benign	1 lab	44de6af9dc
6:116265493 FRK G>T	6	116265493	116265493	G	T	FRK	c.1054C>A	NM_002031.3	NP_002022.1:p.(His352Asn)	NC_000006.11:g.116265493G>T	VUS	1 lab	44df20eaa2
20:62837126 MYT1 G>A	20	62837126	62837126	G	A	MYT1	c.370G>A	NM_004535.3	NP_004526.1:p.(Glu124Lys)	NC_000020.10:g.62837126G>A	(Likely) benign	1 lab	44dff35e4e
6:47541940 CD2AP C>T	6	47541940	47541940	C	T	CD2AP	c.682C>T	NM_012120.3	NP_036252.1:p.(Arg228Trp)	NC_000006.11:g.47541940C>T	(Likely) benign	1 lab	44e0ab7c60
3:11400015 ATG7 G>T	3	11400015	11400015	G	T	ATG7	c.1408G>T	NM_001349232.2	NP_001336161.1:p.(Val470Phe)	NC_000003.11:g.11400015G>T	VUS	1 lab	44e18a5e7b
1:151395924 POGZ AG>A	1	151395924	151395927	AG	A	POGZ	c.1626del	NM_015100.4	NP_055915.2:p.(Phe543SerfsTer37)	NC_000001.10:g.151395927del	(Likely) pathogenic	1 lab	44e3961e56
2:48018244 MSH6 CTT>C	2	48018244	48018248	CTT	C	MSH6	c.442_443del	NM_000179.3	NP_000170.1:p.(Leu148LysfsTer23)	NC_000002.11:g.48018247_48018248del	VUS	1 lab	44e420e94b
9:131117724 SLC27A4 C>T	9	131117724	131117724	C	T	SLC27A4	c.1510C>T	NM_005094.4	NP_005085.2:p.(Arg504Cys)	NC_000009.11:g.131117724C>T	VUS	1 lab	44e42fef7e
2:121746231 GLI2 G>A	2	121746231	121746231	G	A	GLI2	c.2690G>A	NM_001374353.1	NP_001361282.1:p.(Arg897Gln)	NC_000002.11:g.121746231G>A	(Likely) benign	1 lab	44e49a786e
6:32008904 CYP21A2 G>A	6	32008904	32008904	G	A	CYP21A2	c.1481G>A	NM_000500.9	NP_000491.4:p.(Ser494Asn)	NC_000006.11:g.32008904G>A	(Likely) benign	1 lab	44e5413a41
X:13621448 EGFL6 G>A	X	13621448	13621448	G	A	EGFL6	c.413G>A	NM_015507.4	NP_056322.2:p.(Cys138Tyr)	NC_000023.10:g.13621448G>A	VUS	1 lab	44e56d124d
19:630170 POLRMT T>C	19	630170	630170	T	C	POLRMT	c.194-2A>G	NM_005035.4	NP_005026.3:p.?	NC_000019.9:g.630170T>C	VUS	1 lab	b4d9fcf99e
1:223178391 DISP1 G>C	1	223178391	223178391	G	C	DISP1	c.3652G>C	NM_001377229.1	NP_001364158.1:p.(Glu1218Gln)	NC_000001.10:g.223178391G>C	VUS	1 lab	44e56f2630
11:68201177 LRP5 G>A	11	68201177	68201177	G	A	LRP5	c.3871G>A	NM_002335.4	NP_002326.2:p.(Asp1291Asn)	NC_000011.9:g.68201177G>A	VUS	1 lab	44e7a217fc
2:216237041 FN1 A>G	2	216237041	216237041	A	G	FN1	c.6305T>C	NM_212482.4	NP_997647.2:p.(Leu2102Ser)	NC_000002.11:g.216237041A>G	VUS	1 lab	44e7ac3e97
10:135193738 PAOX C>G	10	135193738	135193738	C	G	PAOX	c.417C>G	NM_152911.4	NP_690875.1:p.(Asp139Glu)	NC_000010.10:g.135193738C>G	(Likely) benign	1 lab	44e7bb5131
17:33904972 PEX12 C>CA	17	33904972	33904973	C	CA	PEX12	c.68dup	NM_000286.3	NP_000277.1:p.(Val24GlyfsTer37)	NC_000017.10:g.33904973dup	VUS	1 lab	44e81b9cc9
9:139391403 NOTCH1 C>T	9	139391403	139391403	C	T	NOTCH1	c.6788G>A	NM_017617.5	NP_060087.3:p.(Arg2263Gln)	NC_000009.11:g.139391403C>T	VUS	1 lab	44e8abdf31
19:36399115 TYROBP G>A	19	36399115	36399115	G	A	TYROBP	c.16C>T	NM_003332.4	NP_003323.1:p.(Pro6Ser)	NC_000019.9:g.36399115G>A	VUS	1 lab	44e8ec0f37
16:15808767 MYH11 T>G	16	15808767	15808767	T	G	MYH11	c.5785A>C	NM_002474.3	NP_002465.1:p.(Arg1929=)	NC_000016.9:g.15808767T>G	VUS	1 lab	44ea31dc69
22:21349162 LZTR1 C>T	22	21349162	21349162	C	T	LZTR1	c.1789C>T	NM_006767.4	NP_006758.2:p.(His597Tyr)	NC_000022.10:g.21349162C>T	VUS	1 lab	44eb7f5b48
6:43638575 RSPH9 C>T	6	43638575	43638575	C	T	RSPH9	c.720C>T	NM_152732.5	NP_689945.2:p.(Arg240=)	NC_000006.11:g.43638575C>T	(Likely) benign	1 lab	44eb84d458
15:38643422 SPRED1 G>A	15	38643422	38643422	G	A	SPRED1	c.892G>A	NM_152594.3	NP_689807.1:p.(Asp298Asn)	NC_000015.9:g.38643422G>A	VUS	1 lab	44ebf9bb85
2:47705627 MSH2 G>A	2	47705627	47705627	G	A	MSH2	c.2427G>A	NM_000251.3	NP_000242.1:p.(Glu809=)	NC_000002.11:g.47705627G>A	VUS	1 lab	44ec21d29a
17:30320282 SUZ12 C>G	17	30320282	30320282	C	G	SUZ12	c.1223C>G	NM_015355.4	NP_056170.2:p.(Thr408Arg)	NC_000017.10:g.30320282C>G	(Likely) benign	1 lab	44ee65b183
X:101576806 NXF2 G>A	X	101576806	101576806	G	A	NXF2	c.1301+1G>A	NM_022053.4	NP_071336.1:p.?	NC_000023.10:g.101576806G>A	(Likely) benign	1 lab	44f00cee15
3:172050955 FNDC3B A>G	3	172050955	172050955	A	G	FNDC3B	c.1631A>G	NM_022763.4	NP_073600.3:p.(Tyr544Cys)	NC_000003.11:g.172050955A>G	VUS	1 lab	44f063d840
X:19377106 PDHA1 G>A	X	19377106	19377106	G	A	PDHA1	c.972G>A	NM_000284.4	NP_000275.1:p.(Met324Ile)	NC_000023.10:g.19377106G>A	VUS	1 lab	44f0c64a21
5:126774253 MEGF10 A>G	5	126774253	126774253	A	G	MEGF10	c.2227A>G	NM_001256545.2	NP_001243474.1:p.(Thr743Ala)	NC_000005.9:g.126774253A>G	VUS	1 lab	44f15237f7
9:131456282 SET TGAA>T	9	131456282	131456290	TGAA	T	SET	c.777_779del	NM_003011.4	NP_003002.2:p.(Glu259del)	NC_000009.11:g.131456288_131456290del	(Likely) benign	1 lab	44f153f4c1
7:150648823 KCNH2 A>G	7	150648823	150648823	A	G	KCNH2	c.1658T>C	NM_000238.3	NP_000229.1:p.(Leu553Pro)	NC_000007.13:g.150648823A>G	VUS	1 lab	35663ad536
19:41510282 CYP2B6 A>G	19	41510282	41510282	A	G	CYP2B6	c.415A>G	NM_000767.5	NP_000758.1:p.(Lys139Glu)	NC_000019.9:g.41510282A>G	(Likely) benign	1 lab	44f4a613c9
2:130914168 SMPD4 G>A	2	130914168	130914168	G	A	SMPD4	c.1178C>T	NM_017951.5	NP_060421.3:p.(Ser393Leu)	NC_000002.11:g.130914168G>A	VUS	1 lab	44f509d983
16:89253832 CDH15 C>T	16	89253832	89253832	C	T	CDH15	c.664-5C>T	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89253832C>T	VUS	1 lab	44f5c9ca96
1:44071945 PTPRF A>AGCG	1	44071945	44071962	A	AGCG	PTPRF	c.3533_3535dup	NM_002840.5	NP_002831.2:p.(Arg1178dup)	NC_000001.10:g.44071960_44071962dup	VUS	1 lab	44f5fd414b
1:107979322 NTNG1 C>A	1	107979322	107979322	C	A	NTNG1	c.1291C>A	NM_001113226.3	NP_001106697.1:p.(Arg431Ser)	NC_000001.10:g.107979322C>A	(Likely) benign	1 lab	44f61288a0
13:50243929 EBPL G>A	13	50243929	50243929	G	A	EBPL	c.225C>T	NM_032565.5	NP_115954.1:p.(Gly75=)	NC_000013.10:g.50243929G>A	VUS	1 lab	44f6156615
8:144991295 PLEC A>G	8	144991295	144991295	A	G	PLEC	c.12694T>C	NM_201384.3	NP_958786.1:p.(Phe4232Leu)	NC_000008.10:g.144991295A>G	(Likely) benign	1 lab	44f6459570
1:22174518 HSPG2 G>T	1	22174518	22174518	G	T	HSPG2	c.7806C>A	NM_005529.7	NP_005520.4:p.(Val2602=)	NC_000001.10:g.22174518G>T	(Likely) benign	1 lab	44f8d05d46
15:75656523 MAN2C1 C>T	15	75656523	75656523	C	T	MAN2C1	c.607G>A	NM_006715.4	NP_006706.2:p.(Gly203Arg)	NC_000015.9:g.75656523C>T	(Likely) pathogenic	1 lab	44f9f01584
2:179436295 TTN G>A	2	179436295	179436295	G	A	TTN	c.74564C>T	NM_001267550.2	NP_001254479.2:p.(Thr24855Ile)	NC_000002.11:g.179436295G>A	(Likely) benign	1 lab	44fa544167
7:101650482 CUX1 C>T	7	101650482	101650482	C	T	CUX1	c.142-20896C>T	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101650482C>T	(Likely) benign	1 lab	44fa653e3a
12:80722828 OTOGL T>A	12	80722828	80722828	T	A	OTOGL	c.4280-3T>A	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80722828T>A	(Likely) benign	1 lab	44fbd81455
2:44177747 LRPPRC G>C	2	44177747	44177747	G	C	LRPPRC	c.1650-8C>G	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44177747G>C	(Likely) benign	1 lab	44fdce224f
22:36123179 APOL5 G>A	22	36123179	36123179	G	A	APOL5	c.1064G>A	NM_030642.1	NP_085145.1:p.(Ser355Asn)	NC_000022.10:g.36123179G>A	(Likely) benign	1 lab	450d08bc05
8:22006287 LGI3 C>T	8	22006287	22006287	C	T	LGI3	c.1033G>A	NM_139278.4	NP_644807.1:p.(Val345Met)	NC_000008.10:g.22006287C>T	VUS	1 lab	45005c4eaf
19:11338066 DOCK6 T>C	19	11338066	11338066	T	C	DOCK6	c.2902A>G	NM_020812.4	NP_065863.2:p.(Ile968Val)	NC_000019.9:g.11338066T>C	(Likely) benign	1 lab	45030d9d9b
6:132198206 ENPP1 T>C	6	132198206	132198206	T	C	ENPP1	c.1798T>C	NM_006208.3	NP_006199.2:p.(Tyr600His)	NC_000006.11:g.132198206T>C	VUS	1 lab	45049a55dd
17:43320545 FMNL1 G>C	17	43320545	43320545	G	C	FMNL1	c.2071G>C	NM_005892.4	NP_005883.3:p.(Asp691His)	NC_000017.10:g.43320545G>C	VUS	1 lab	4504be8cd4
16:2222371 TRAF7 C>T	16	2222371	2222371	C	T	TRAF7	c.655C>T	NM_032271.3	NP_115647.2:p.(Arg219Trp)	NC_000016.9:g.2222371C>T	VUS	1 lab	4506cdaa3c
19:3637514 PIP5K1C G>A	19	3637514	3637514	G	A	PIP5K1C	c.1920+1368C>T	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3637514G>A	VUS	1 lab	45079d227d
10:105820005 COL17A1 A>G	10	105820005	105820005	A	G	COL17A1	c.1013T>C	NM_000494.4	NP_000485.3:p.(Leu338Ser)	NC_000010.10:g.105820005A>G	VUS	1 lab	45091b0c62
17:42083150 NAGS A>G	17	42083150	42083150	A	G	NAGS	c.572A>G	NM_153006.3	NP_694551.1:p.(Glu191Gly)	NC_000017.10:g.42083150A>G	(Likely) benign	1 lab	450986e009
X:14929465 MOSPD2 A>T	X	14929465	14929465	A	T	MOSPD2	c.809A>T	NM_152581.4	NP_689794.1:p.(Asp270Val)	NC_000023.10:g.14929465A>T	VUS	1 lab	4509bf6d52
2:112614429 ANAPC1 G>A	2	112614429	112614429	G	A	ANAPC1	c.1393C>T	NM_022662.4	NP_073153.1:p.(Gln465Ter)	NC_000002.11:g.112614429G>A	VUS	1 lab	4509c41b63
20:3209739 SLC4A11 A>C	20	3209739	3209739	A	C	SLC4A11	c.2018+2T>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3209739A>C	(Likely) benign	1 lab	450a195063
1:75862263 SLC44A5 C>T	1	75862263	75862263	C	T	SLC44A5	c.52+5G>A	NM_001130058.2	NP_001123530.1:p.?	NC_000001.10:g.75862263C>T	(Likely) benign	1 lab	450ba165df
17:39594442 KRT38 G>A	17	39594442	39594442	G	A	KRT38	c.1144C>T	NM_006771.4	NP_006762.3:p.(Arg382Trp)	NC_000017.10:g.39594442G>A	VUS	1 lab	450bf20eae
X:47001819 NDUFB11 C>T	X	47001819	47001819	C	T	NDUFB11	c.359G>A	NM_001135998.3	NP_001129470.1:p.(Arg120His)	NC_000023.10:g.47001819C>T	(Likely) benign	1 lab	450bf8c479
15:89386747 ACAN G>A	15	89386747	89386747	G	A	ACAN	c.919G>A	NM_001369268.1	NP_001356197.1:p.(Val307Met)	NC_000015.9:g.89386747G>A	VUS	1 lab	450cce418e
10:17113966 CUBN C>T	10	17113966	17113966	C	T	CUBN	c.2306G>A	NM_001081.4	NP_001072.2:p.(Arg769Gln)	NC_000010.10:g.17113966C>T	(Likely) benign	1 lab	450d79adb3
3:47046467 NBEAL2 C>T	3	47046467	47046467	C	T	NBEAL2	c.6300C>T	NM_015175.2	NP_055990.1:p.(Pro2100=)	NC_000003.11:g.47046467C>T	(Likely) benign	1 lab	1f58a2ba46
4:79240140 FRAS1 G>C	4	79240140	79240140	G	C	FRAS1	c.2137G>C	NM_025074.7	NP_079350.5:p.(Ala713Pro)	NC_000004.11:g.79240140G>C	VUS	1 lab	450e8e48fc
13:110830535 COL4A1 A>C	13	110830535	110830535	A	C	COL4A1	c.2502T>G	NM_001845.6	NP_001836.3:p.(Pro834=)	NC_000013.10:g.110830535A>C	(Likely) benign	1 lab	450e95d767
5:140256046 PCDHA1 T>C	5	140256046	140256046	T	C	PCDHA1	c.2394+87777T>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140256046T>C	(Likely) benign	1 lab	450ffa1260
1:40773150 COL9A2 G>A	1	40773150	40773150	G	A	COL9A2	c.976C>T	NM_001852.4	NP_001843.1:p.(Gln326Ter)	NC_000001.10:g.40773150G>A	(Likely) benign	1 lab	451084e450
16:30735777 SRCAP A>G	16	30735777	30735777	A	G	SRCAP	c.5032A>G	NM_006662.3	NP_006653.2:p.(Thr1678Ala)	NC_000016.9:g.30735777A>G	(Likely) benign	1 lab	4511741c86
6:43012504 CUL7 T>C	6	43012504	43012504	T	C	CUL7	c.3158A>G	NM_014780.5	NP_055595.2:p.(Asn1053Ser)	NC_000006.11:g.43012504T>C	(Likely) benign	1 lab	4512903cdd
5:90070111 ADGRV1 C>G	5	90070111	90070111	C	G	ADGRV1	c.12394C>G	NM_032119.4	NP_115495.3:p.(Pro4132Ala)	NC_000005.9:g.90070111C>G	VUS	1 lab	4514913be9
1:151395869 POGZ T>C	1	151395869	151395869	T	C	POGZ	c.1678+4A>G	NM_015100.4	NP_055915.2:p.?	NC_000001.10:g.151395869T>C	VUS	1 lab	451779e1a7
5:42719329 GHR A>G	5	42719329	42719329	A	G	GHR	c.1720A>G	NM_000163.5	NP_000154.1:p.(Thr574Ala)	NC_000005.9:g.42719329A>G	VUS	1 lab	451787e9fa
6:143094273 HIVEP2 C>T	6	143094273	143094273	C	T	HIVEP2	c.1603G>A	NM_006734.4	NP_006725.3:p.(Val535Ile)	NC_000006.11:g.143094273C>T	(Likely) benign	1 lab	4517cc3629
16:89715770 CHMP1A T>A	16	89715770	89715770	T	A	CHMP1A	c.241A>T	NM_002768.5	NP_002759.2:p.(Thr81Ser)	NC_000016.9:g.89715770T>A	VUS	1 lab	45186a32be
16:775122 CCDC78 C>T	16	775122	775122	C	T	CCDC78	c.516G>A	NM_001378030.1	NP_001364959.1:p.(Ala172=)	NC_000016.9:g.775122C>T	(Likely) benign	1 lab	451af977ef
6:142741188 ADGRG6 G>A	6	142741188	142741188	G	A	ADGRG6	c.3266G>A	NM_198569.3	NP_940971.2:p.(Gly1089Glu)	NC_000006.11:g.142741188G>A	VUS	1 lab	451d92f231
X:70672471 TAF1 C>T	X	70672471	70672471	C	T	TAF1	c.4754-1549C>T	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70672471C>T	(Likely) benign	1 lab	451dff1f5a
4:8602880 CPZ G>T	4	8602880	8602880	G	T	CPZ	c.152G>T	NM_001014447.3	NP_001014447.2:p.(Cys51Phe)	NC_000004.11:g.8602880G>T	VUS	1 lab	45215864b0
16:17228503 XYLT1 C>A	16	17228503	17228503	C	A	XYLT1	c.1854G>T	NM_022166.4	NP_071449.1:p.(Gly618=)	NC_000016.9:g.17228503C>A	VUS	1 lab	4521b9d655
19:4546260 SEMA6B C>A	19	4546260	4546260	C	A	SEMA6B	c.1706G>T	NM_032108.4	NP_115484.2:p.(Gly569Val)	NC_000019.9:g.4546260C>A	VUS	1 lab	4524ae8986
2:232889039 DIS3L2 C>T	2	232889039	232889039	C	T	DIS3L2	c.263C>T	NM_152383.5	NP_689596.4:p.(Pro88Leu)	NC_000002.11:g.232889039C>T	(Likely) benign	1 lab	45251070d1
3:172163189 GHSR T>C	3	172163189	172163189	T	C	GHSR	c.863A>G	NM_198407.2	NP_940799.1:p.(Lys288Arg)	NC_000003.11:g.172163189T>C	VUS	1 lab	4525946f64
17:73724487 ITGB4 T>A	17	73724487	73724487	T	A	ITGB4	c.499T>A	NM_000213.5	NP_000204.3:p.(Tyr167Asn)	NC_000017.10:g.73724487T>A	VUS	1 lab	452623771b
4:981672 IDUA C>T	4	981672	981672	C	T	IDUA	c.234C>T	NM_000203.5	NP_000194.2:p.(Gly78=)	NC_000004.11:g.981672C>T	(Likely) benign	1 lab	4526c72207
1:236758923 HEATR1 C>T	1	236758923	236758923	C	T	HEATR1	c.1007G>A	NM_018072.6	NP_060542.4:p.(Gly336Glu)	NC_000001.10:g.236758923C>T	VUS	1 lab	4527358639
12:6442656 TNFRSF1A A>G	12	6442656	6442656	A	G	TNFRSF1A	c.349T>C	NM_001065.3	NP_001056.1:p.(Cys117Arg)	NC_000012.11:g.6442656A>G	(Likely) pathogenic	1 lab	1f5adf371a
12:6627062 NCAPD2 A>G	12	6627062	6627062	A	G	NCAPD2	c.1526A>G	NM_014865.4	NP_055680.3:p.(Asn509Ser)	NC_000012.11:g.6627062A>G	VUS	1 lab	4528509b1c
6:55304355 HMGCLL1 C>T	6	55304355	55304355	C	T	HMGCLL1	c.798G>A	NM_001042406.2	NP_001035865.1:p.(Met266Ile)	NC_000006.11:g.55304355C>T	(Likely) benign	1 lab	452ad62e3f
3:58135706 FLNB A>G	3	58135706	58135706	A	G	FLNB	c.6221A>G	NM_001457.4	NP_001448.2:p.(Lys2074Arg)	NC_000003.11:g.58135706A>G	VUS	1 lab	452b2a5b2a
X:43627893 MAOB T>C	X	43627893	43627893	T	C	MAOB	c.1410+8A>G	NM_000898.5	NP_000889.3:p.?	NC_000023.10:g.43627893T>C	(Likely) benign	1 lab	452b3c7a86
6:170597500 DLL1 C>G	6	170597500	170597500	C	G	DLL1	c.497G>C	NM_005618.4	NP_005609.3:p.(Ser166Thr)	NC_000006.11:g.170597500C>G	(Likely) benign	1 lab	452ccd7061
3:4810449 ITPR1 G>GT	3	4810449	4810450	G	GT	ITPR1	c.5979+2dup	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4810450dup	VUS	1 lab	452cf6e3df
4:186336335 UFSP2 C>G	4	186336335	186336335	C	G	UFSP2	c.658G>C	NM_018359.5	NP_060829.2:p.(Asp220His)	NC_000004.11:g.186336335C>G	VUS	1 lab	1eb6534de9
17:73614199 MYO15B C>T	17	73614199	73614199	C	T	MYO15B	c.6928-7C>T	NM_001395058.1	NP_001381987.1:p.?	NC_000017.10:g.73614199C>T	(Likely) benign	1 lab	452f4a21b6
9:135946723 CEL GC>G	9	135946723	135946731	GC	G	CEL	c.1842del	NM_001807.6	NP_001798.3:p.(Val615CysfsTer89)	NC_000009.11:g.135946731del	(Likely) benign	1 lab	452f85e54b
18:10689711 PIEZO2 C>A	18	10689711	10689711	C	A	PIEZO2	c.7439G>T	NM_001378183.1	NP_001365112.1:p.(Cys2480Phe)	NC_000018.9:g.10689711C>A	VUS	1 lab	4530060c8d
X:36379439 CFAP47 TC>T	X	36379439	36379441	TC	T	CFAP47	c.8852-4del	NM_001304548.2	NP_001291477.1:p.?	NC_000023.10:g.36379441del	(Likely) benign	1 lab	45320f54b2
11:2906329 CDKN1C C>T	11	2906329	2906329	C	T	CDKN1C	c.358G>A	NM_001122630.2	NP_001116102.1:p.(Glu120Lys)	NC_000011.9:g.2906329C>T	VUS	1 lab	453478e628
12:41330603 CNTN1 C>T	12	41330603	41330603	C	T	CNTN1	c.1006C>T	NM_001843.4	NP_001834.2:p.(His336Tyr)	NC_000012.11:g.41330603C>T	VUS	1 lab	4535207311
20:47628553 ARFGEF2 C>T	20	47628553	47628553	C	T	ARFGEF2	c.3850C>T	NM_006420.3	NP_006411.2:p.(Pro1284Ser)	NC_000020.10:g.47628553C>T	VUS	1 lab	45364ed847
14:90730522 PSMC1 G>A	14	90730522	90730522	G	A	PSMC1	c.594+9G>A	NM_002802.3	NP_002793.2:p.?	NC_000014.8:g.90730522G>A	(Likely) benign	1 lab	4537c7b410
1:207135574 FCAMR A>T	1	207135574	207135574	A	T	FCAMR	c.636T>A	NM_001170631.2	NP_001164102.1:p.(Asn212Lys)	NC_000001.10:g.207135574A>T	(Likely) benign	1 lab	45383386a0
1:160099823 ATP1A2 A>G	1	160099823	160099823	A	G	ATP1A2				NC_000001.10:g.160099823A>G	(Likely) benign	1 lab	1f5c94e94b
17:60072625 MED13 T>A	17	60072625	60072625	T	A	MED13	c.2069A>T	NM_005121.3	NP_005112.2:p.(Glu690Val)	NC_000017.10:g.60072625T>A	VUS	1 lab	45396fa964
16:51174226 SALL1 G>A	16	51174226	51174226	G	A	SALL1	c.1907C>T	NM_002968.3	NP_002959.2:p.(Thr636Met)	NC_000016.9:g.51174226G>A	(Likely) benign	1 lab	453a9ac9a4
10:16882941 CUBN T>C	10	16882941	16882941	T	C	CUBN	c.9769A>G	NM_001081.4	NP_001072.2:p.(Ile3257Val)	NC_000010.10:g.16882941T>C	(Likely) benign	1 lab	453c36557f
20:4680070 PRNP TCATGGTGGTGGCTGGGGGCAGCCC>T	20	4680070	4680111	TCATGGTGGTGGCTGGGGGCAGCCC	T	PRNP	c.222_245del	NM_000311.5	NP_000302.1:p.(Pro84_Gln91del)	NC_000020.10:g.4680088_4680111del	(Likely) benign	1 lab	453e68e83c
11:17538995 USH1C C>T	11	17538995	17538995	C	T	USH1C	c.1211-1158G>A	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17538995C>T	(Likely) benign	1 lab	453e993e97
9:712084 KANK1 G>A	9	712084	712084	G	A	KANK1	c.1318G>A	NM_015158.5	NP_055973.2:p.(Val440Met)	NC_000009.11:g.712084G>A	VUS	1 lab	453f76df19
15:65369441 KBTBD13 T>G	15	65369441	65369441	T	G	KBTBD13	c.288T>G	NM_001101362.3	NP_001094832.1:p.(Phe96Leu)	NC_000015.9:g.65369441T>G	(Likely) benign	1 lab	1eb72d8b69
11:44165865 EXT2 G>A	11	44165865	44165865	G	A	EXT2	c.1173+14177G>A	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44165865G>A	(Likely) benign	1 lab	4540b457c4
6:24503532 ALDH5A1 C>T	6	24503532	24503532	C	T	ALDH5A1	c.480C>T	NM_001080.3	NP_001071.1:p.(Ser160=)	NC_000006.11:g.24503532C>T	(Likely) benign	1 lab	4540cfd50d
11:293878 PGGHG C>T	11	293878	293878	C	T	PGGHG	c.1663C>T	NM_025092.5	NP_079368.3:p.(Arg555Trp)	NC_000011.9:g.293878C>T	(Likely) benign	1 lab	454164be20
2:206659538 NRP2 C>T	2	206659538	206659538	C	T	NRP2	c.2537C>T	NM_003872.3	NP_003863.2:p.(Ser846Leu)	NC_000002.11:g.206659538C>T	VUS	1 lab	45417977b6
3:52027853 RPL29 TCCTTGGCCTTGG>T	3	52027853	52027881	TCCTTGGCCTTGG	T	RPL29	c.380_391del	NM_000992.3	NP_000983.1:p.(Ala127_Lys130del)	NC_000003.11:g.52027870_52027881del	(Likely) benign	1 lab	4543beb7b6
X:2933044 ARSH G>T	X	2933044	2933044	G	T	ARSH	c.374G>T	NM_001011719.2	NP_001011719.1:p.(Arg125Leu)	NC_000023.10:g.2933044G>T	(Likely) benign	1 lab	4543e9c26f
3:128618135 ACAD9 G>C	3	128618135	128618135	G	C	ACAD9	c.639G>C	NM_014049.5	NP_054768.2:p.(Trp213Cys)	NC_000003.11:g.128618135G>C	VUS	1 lab	4544850ef5
4:88536457 DSPP T>TAGAAGTGAC	4	88536457	88536460	T	TAGAAGTGAC	DSPP	c.2645_2646insAAGTGACAG	NM_014208.3	NP_055023.2:p.(Asp881_Ser882insArgSerAsp)	NC_000004.11:g.88536459_88536460insAAGTGACAG	(Likely) benign	1 lab	4544c67231
5:34914973 RAD1 G>C	5	34914973	34914973	G	C	RAD1	c.25C>G	NM_002853.4	NP_002844.1:p.(Gln9Glu)	NC_000005.9:g.34914973G>C	(Likely) benign	1 lab	45455a7c32
8:145170306 WDR97 G>A	8	145170306	145170306	G	A	WDR97	c.4140G>A	NM_001316309.2	NP_001303238.1:p.(Ser1380=)	NC_000008.10:g.145170306G>A	VUS	1 lab	4545e45b3e
20:43030033 HNF4A C>A	20	43030033	43030033	C	A	HNF4A	c.21C>A	NM_000457.5	NP_000448.3:p.(Leu7=)	NC_000020.10:g.43030033C>A	(Likely) benign	1 lab	4547508d0d
1:152279330 FLG C>A	1	152279330	152279330	C	A	FLG	c.8032G>T	NM_002016.2	NP_002007.1:p.(Ala2678Ser)	NC_000001.10:g.152279330C>A	(Likely) benign	1 lab	45496297ce
19:17014388 CPAMD8 C>T	19	17014388	17014388	C	T	CPAMD8	c.4453G>A	NM_015692.5	NP_056507.3:p.(Gly1485Ser)	NC_000019.9:g.17014388C>T	VUS	1 lab	454af563fc
16:4391508 PAM16 G>GT	16	4391508	4391509	G	GT	PAM16	c.89-4dup	NM_016069.11	NP_057153.8:p.?	NC_000016.9:g.4391509dup	(Likely) benign	1 lab	454c41e751
19:52115597 SIGLEC5 G>A	19	52115597	52115597	G	A	SIGLEC5	c.1543C>T	NM_003830.4	NP_003821.1:p.(Gln515Ter)	NC_000019.9:g.52115597G>A	VUS	1 lab	454d0300d2
12:75683555 CAPS2 T>C	12	75683555	75683555	T	C	CAPS2	c.1127A>G	NM_001355024.4	NP_001341953.2:p.(Asp376Gly)	NC_000012.11:g.75683555T>C	VUS	1 lab	454dc54b56
2:113520078 CKAP2L A>G	2	113520078	113520078	A	G	CKAP2L	c.104+2T>C	NM_152515.5	NP_689728.3:p.?	NC_000002.11:g.113520078A>G	(Likely) pathogenic	1 lab	454e5bbd57
15:90208998 PLIN1 G>A	15	90208998	90208998	G	A	PLIN1	c.1385C>T	NM_002666.5	NP_002657.3:p.(Pro462Leu)	NC_000015.9:g.90208998G>A	(Likely) benign	1 lab	454fda54c7
14:79175609 NRXN3 G>A	14	79175609	79175609	G	A	NRXN3	c.1271G>A	NM_001330195.2	NP_001317124.1:p.(Arg424Gln)	NC_000014.8:g.79175609G>A	VUS	1 lab	45512a0012
17:71202345 COG1 G>T	17	71202345	71202345	G	T	COG1	c.2563G>T	NM_018714.3	NP_061184.1:p.(Asp855Tyr)	NC_000017.10:g.71202345G>T	VUS	1 lab	4554d83144
1:227170737 COQ8A T>C	1	227170737	227170737	T	C	COQ8A	c.1080+2T>C	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227170737T>C	VUS	1 lab	4556e347d5
2:179615318 TTN T>G	2	179615318	179615318	T	G	TTN	c.11311+2533A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615318T>G	VUS	1 lab	45571c77d5
7:151859521 KMT2C T>C	7	151859521	151859521	T	C	KMT2C	c.11141A>G	NM_170606.3	NP_733751.2:p.(Lys3714Arg)	NC_000007.13:g.151859521T>C	(Likely) benign	1 lab	45579116aa
1:231403526 GNPAT T>C	1	231403526	231403526	T	C	GNPAT	c.1156T>C	NM_014236.4	NP_055051.1:p.(Trp386Arg)	NC_000001.10:g.231403526T>C	VUS	1 lab	4557bf965f
16:1267973 CACNA1H A>G	16	1267973	1267973	A	G	CACNA1H	c.5378A>G	NM_021098.3	NP_066921.2:p.(Asn1793Ser)	NC_000016.9:g.1267973A>G	(Likely) benign	1 lab	4559d16b41
1:1469361 ATAD3A G>A	1	1469361	1469361	G	A	ATAD3A	c.1670G>A	NM_001170535.3	NP_001164006.1:p.(Arg557His)	NC_000001.10:g.1469361G>A	VUS	1 lab	455a65f7f2
7:34097710 BMPER G>A	7	34097710	34097710	G	A	BMPER	c.967G>A	NM_001365308.1	NP_001352237.1:p.(Ala323Thr)	NC_000007.13:g.34097710G>A	VUS	1 lab	455e8ec562
4:1806640 FGFR3 C>A	4	1806640	1806640	C	A	FGFR3	c.1356C>A	NM_000142.5	NP_000133.1:p.(Ala452=)	NC_000004.11:g.1806640C>A	(Likely) benign	1 lab	4560372d10
12:7361266 PEX5 G>A	12	7361266	7361266	G	A	PEX5	c.1394+1G>A	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7361266G>A	VUS	1 lab	4560373371
X:77913260 RTL3 C>T	X	77913260	77913260	C	T	RTL3	c.658G>A	NM_152694.3	NP_689907.1:p.(Ala220Thr)	NC_000023.10:g.77913260C>T	(Likely) benign	1 lab	4560a83c3f
7:6078213 EIF2AK1 C>A	7	6078213	6078213	C	A	EIF2AK1	c.1209G>T	NM_014413.4	NP_055228.2:p.(Arg403=)	NC_000007.13:g.6078213C>A	(Likely) benign	1 lab	4560fc44bd
2:238250791 COL6A3 G>A	2	238250791	238250791	G	A	COL6A3	c.7682C>T	NM_004369.4	NP_004360.2:p.(Ala2561Val)	NC_000002.11:g.238250791G>A	VUS	1 lab	4561177c51
2:170344523 BBS5 C>T	2	170344523	170344523	C	T	BBS5	c.285C>T	NM_152384.3	NP_689597.1:p.(Leu95=)	NC_000002.11:g.170344523C>T	(Likely) benign	1 lab	1f5fe4a478
22:24176329 SMARCB1 C>T	22	24176329	24176329	C	T	SMARCB1	c.1120C>T	NM_003073.5	NP_003064.2:p.(Arg374Trp)	NC_000022.10:g.24176329C>T	VUS	1 lab	45619d6a72
3:129170848 IFT122 G>C	3	129170848	129170848	G	C	IFT122	c.193+7G>C	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129170848G>C	(Likely) benign	1 lab	456204b1b0
9:139907348 ABCA2 G>A	9	139907348	139907348	G	A	ABCA2	c.4897C>T	NM_001606.5	NP_001597.2:p.(Arg1633Cys)	NC_000009.11:g.139907348G>A	VUS	1 lab	45638f7557
14:20845481 TEP1 G>C	14	20845481	20845481	G	C	TEP1	c.6046C>G	NM_007110.5	NP_009041.2:p.(Leu2016Val)	NC_000014.8:g.20845481G>C	(Likely) benign	1 lab	4563d96337
1:103400653 COL11A1 G>C	1	103400653	103400653	G	C	COL11A1	c.3455C>G	NM_001854.4	NP_001845.3:p.(Pro1152Arg)	NC_000001.10:g.103400653G>C	VUS	1 lab	456410cf46
2:69556797 GFPT1 T>C	2	69556797	69556797	T	C	GFPT1	c.1597+19A>G	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69556797T>C	VUS	1 lab	456487741b
X:47001975 NDUFB11 C>T	X	47001975	47001975	C	T	NDUFB11	c.338+38G>A	NM_001135998.3	NP_001129470.1:p.?	NC_000023.10:g.47001975C>T	(Likely) benign	1 lab	4564b5565a
15:82507049 EFL1 T>C	15	82507049	82507049	T	C	EFL1	c.1750+9A>G	NM_024580.6	NP_078856.4:p.?	NC_000015.9:g.82507049T>C	(Likely) benign	1 lab	4564dc2bc9
2:179396809 TTN G>C	2	179396809	179396809	G	C	TTN	c.104533C>G	NM_001267550.2	NP_001254479.2:p.(Pro34845Ala)	NC_000002.11:g.179396809G>C	VUS	1 lab	45659806e3
9:139369091 SEC16A C>T	9	139369091	139369091	C	T	SEC16A	c.2977G>A	NM_014866.2	NP_055681.1:p.(Ala993Thr)	NC_000009.11:g.139369091C>T	(Likely) benign	1 lab	4565a6ef85
2:238289817 COL6A3 G>A	2	238289817	238289817	G	A	COL6A3	c.1638C>T	NM_004369.4	NP_004360.2:p.(Ala546=)	NC_000002.11:g.238289817G>A	(Likely) benign	1 lab	4566db0b4d
X:68383318 PJA1 C>T	X	68383318	68383318	C	T	PJA1	c.-67-335G>A	NM_001032396.4	NP_001027568.1:p.?	NC_000023.10:g.68383318C>T	(Likely) benign	1 lab	4566f7922b
5:176696800 NSD1 A>T	5	176696800	176696800	A	T	NSD1	c.5501A>T	NM_022455.5	NP_071900.2:p.(Tyr1834Phe)	NC_000005.9:g.176696800A>T	VUS	1 lab	45671622a2
11:17408485 KCNJ11 G>C	11	17408485	17408485	G	C	KCNJ11	c.1154C>G	NM_000525.4	NP_000516.3:p.(Ser385Cys)	NC_000011.9:g.17408485G>C	(Likely) benign	1 lab	456a58e864
11:103068798 DYNC2H1 A>G	11	103068798	103068798	A	G	DYNC2H1	c.7839+6A>G	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103068798A>G	(Likely) benign	1 lab	456ab0a4f8
12:121426776 HNF1A C>T	12	121426776	121426776	C	T	HNF1A	c.467C>T	NM_000545.8	NP_000536.6:p.(Thr156Met)	NC_000012.11:g.121426776C>T	VUS	1 lab	456e918562
17:44116057 KANSL1 A>G	17	44116057	44116057	A	G	KANSL1	c.2393-5T>C	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44116057A>G	(Likely) benign	1 lab	456ea80d79
5:42689023 GHR C>A	5	42689023	42689023	C	A	GHR	c.168C>A	NM_000163.5	NP_000154.1:p.(Cys56Ter)	NC_000005.9:g.42689023C>A	(Likely) pathogenic	1 lab	456fa98923
2:166870475 SCN1A C>T	2	166870475	166870475	C	T	SCN1A	c.3551-67G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166870475C>T	(Likely) benign	1 lab	1f62b40510
16:4016470 ADCY9 G>A	16	4016470	4016470	G	A	ADCY9	c.3368C>T	NM_001116.4	NP_001107.2:p.(Ala1123Val)	NC_000016.9:g.4016470G>A	VUS	1 lab	4576fe7f3f
4:79366578 FRAS1 CT>C	4	79366578	79366587	CT	C	FRAS1	c.5666-89del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79366587del	(Likely) benign	1 lab	1f6343da0e
12:121951210 KDM2B A>G	12	121951210	121951210	A	G	KDM2B	c.1048-5T>C	NM_032590.5	NP_115979.3:p.?	NC_000012.11:g.121951210A>G	(Likely) benign	1 lab	45784fd91c
20:1293141 SDCBP2 C>T	20	1293141	1293141	C	T	SDCBP2	c.572G>A	NM_080489.5	NP_536737.3:p.(Arg191Gln)	NC_000020.10:g.1293141C>T	(Likely) benign	1 lab	45790ef95b
1:152285534 FLG C>T	1	152285534	152285534	C	T	FLG	c.1828G>A	NM_002016.2	NP_002007.1:p.(Gly610Arg)	NC_000001.10:g.152285534C>T	(Likely) benign	1 lab	45796f9f86
16:87730254 JPH3 C>A	16	87730254	87730254	C	A	JPH3	c.2235C>A	NM_020655.4	NP_065706.2:p.(Asn745Lys)	NC_000016.9:g.87730254C>A	(Likely) benign	1 lab	457af11d0b
9:135275597 TTF1 G>A	9	135275597	135275597	G	A	TTF1	c.1416C>T	NM_007344.4	NP_031370.2:p.(Ser472=)	NC_000009.11:g.135275597G>A	VUS	1 lab	457e1f03db
12:2797862 CACNA1C C>T	12	2797862	2797862	C	T	CACNA1C	c.6034C>T	NM_000719.7	NP_000710.5:p.(Arg2012Trp)	NC_000012.11:g.2797862C>T	(Likely) benign	1 lab	457e8ee120
6:13711687 RANBP9 CTGCTGCTGT>C	6	13711687	13711704	CTGCTGCTGT	C	RANBP9	c.42_50del	NM_005493.3	NP_005484.2:p.(Gln16_Gln18del)	NC_000006.11:g.13711696_13711704del	VUS	1 lab	457ece2884
6:16327915 ATXN1 ATGCTGCTGC>A	6	16327915	16327955	ATGCTGCTGC	A	ATXN1	c.618_626del	NM_001128164.2	NP_001121636.1:p.(Gln206_Gln208del)	NC_000006.11:g.16327947_16327955del	(Likely) benign	1 lab	45818d2932
21:47773992 PCNT C>T	21	47773992	47773992	C	T	PCNT	c.1761+10C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47773992C>T	(Likely) benign	1 lab	4583679d76
6:36279620 PNPLA1 G>T	6	36279620	36279620	G	T	PNPLA1	c.1676G>T	NM_001374623.1	NP_001361552.1:p.(Arg559Leu)	NC_000006.11:g.36279620G>T	VUS	1 lab	4585f6a00f
8:110439323 PKHD1L1 T>C	8	110439323	110439323	T	C	PKHD1L1	c.2938T>C	NM_177531.6	NP_803875.2:p.(Cys980Arg)	NC_000008.10:g.110439323T>C	VUS	1 lab	45876a2c6a
17:79202873 TEPSIN G>A	17	79202873	79202873	G	A	TEPSIN	c.1637C>T	NM_001363764.2	NP_001350693.1:p.(Ala546Val)	NC_000017.10:g.79202873G>A	VUS	1 lab	458788e464
17:11648261 DNAH9 A>G	17	11648261	11648261	A	G	DNAH9	c.6259A>G	NM_001372.4	NP_001363.2:p.(Met2087Val)	NC_000017.10:g.11648261A>G	(Likely) benign	1 lab	4587a2e298
X:140993980 MAGEC1 GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC>G	X	140993980	140994093	GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC	G	MAGEC1	c.799_903del	NM_005462.5	NP_005453.2:p.(Ser267_Ser301del)	NC_000023.10:g.140993989_140994093del	(Likely) benign	1 lab	4589348b7c
3:10085558 FANCD2 A>G	3	10085558	10085558	A	G	FANCD2	c.1134+10A>G	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10085558A>G	(Likely) benign	1 lab	4589493126
12:116428893 MED13L G>A	12	116428893	116428893	G	A	MED13L	c.3866C>T	NM_015335.5	NP_056150.1:p.(Pro1289Leu)	NC_000012.11:g.116428893G>A	(Likely) benign	1 lab	458b6ac0f7
22:44028082 EFCAB6 T>C	22	44028082	44028082	T	C	EFCAB6	c.2135A>G	NM_022785.4	NP_073622.2:p.(Gln712Arg)	NC_000022.10:g.44028082T>C	VUS	1 lab	458bfba6b4
16:70819670 VAC14 T>C	16	70819670	70819670	T	C	VAC14	c.358A>G	NM_018052.5	NP_060522.3:p.(Ile120Val)	NC_000016.9:g.70819670T>C	(Likely) benign	1 lab	458cea4d25
1:245027182 HNRNPU T>C	1	245027182	245027182	T	C	HNRNPU	c.428A>G	NM_031844.3	NP_114032.2:p.(Asp143Gly)	NC_000001.10:g.245027182T>C	VUS	1 lab	458f86ad84
18:2656154 SMCHD1 C>T	18	2656154	2656154	C	T	SMCHD1	c.80C>T	NM_015295.3	NP_056110.2:p.(Thr27Met)	NC_000018.9:g.2656154C>T	(Likely) benign	1 lab	4592694265
8:141407710 TRAPPC9 T>C	8	141407710	141407710	T	C	TRAPPC9	c.1134+9A>G	NM_001160372.4	NP_001153844.1:p.?	NC_000008.10:g.141407710T>C	(Likely) benign	1 lab	4593a5ffd6
20:44640391 MMP9 C>T	20	44640391	44640391	C	T	MMP9	c.997+5C>T	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44640391C>T	(Likely) benign	1 lab	4594106a43
5:127800572 FBN2 A>G	5	127800572	127800572	A	G	FBN2	c.671T>C	NM_001999.4	NP_001990.2:p.(Met224Thr)	NC_000005.9:g.127800572A>G	(Likely) benign	1 lab	45954da07d
7:2583467 BRAT1 G>C	7	2583467	2583467	G	C	BRAT1	c.560C>G	NM_152743.4	NP_689956.2:p.(Pro187Arg)	NC_000007.13:g.2583467G>C	VUS	1 lab	459728db41
14:105411814 AHNAK2 T>C	14	105411814	105411814	T	C	AHNAK2	c.9974A>G	NM_138420.4	NP_612429.2:p.(Lys3325Arg)	NC_000014.8:g.105411814T>C	(Likely) benign	1 lab	4597b08b5c
1:8418260 RERE G>T	1	8418260	8418260	G	T	RERE	c.4335C>A	NM_001042681.2	NP_001036146.1:p.(His1445Gln)	NC_000001.10:g.8418260G>T	(Likely) benign	1 lab	459a0d3847
16:71778771 AP1G1 G>A	16	71778771	71778771	G	A	AP1G1	c.1999+276C>T	NM_001128.6	NP_001119.3:p.?	NC_000016.9:g.71778771G>A	(Likely) benign	1 lab	459bfeb7a9
X:12720384 FRMPD4 T>G	X	12720384	12720384	T	G	FRMPD4	c.1070+255T>G	NM_001368397.1	NP_001355326.1:p.?	NC_000023.10:g.12720384T>G	(Likely) benign	1 lab	459c312d89
3:123452786 MYLK G>A	3	123452786	123452786	G	A	MYLK	c.1057C>T	NM_053025.3	NP_444253.3:p.(Gln353Ter)	NC_000003.11:g.123452786G>A	(Likely) pathogenic	1 lab	1f6400ac06
4:1920306 NSD2 G>C	4	1920306	1920306	G	C	NSD2	c.1366G>C	NM_001042424.3	NP_001035889.1:p.(Ala456Pro)	NC_000004.11:g.1920306G>C	(Likely) benign	1 lab	459faf53e8
11:3128686 OSBPL5 C>G	11	3128686	3128686	C	G	OSBPL5	c.867-1G>C	NM_020896.4	NP_065947.1:p.?	NC_000011.9:g.3128686C>G	VUS	1 lab	1ebead9516
20:9416190 PLCB4 G>GT	20	9416190	9416199	G	GT	PLCB4	c.2525-8dup	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9416199dup	(Likely) benign	1 lab	45a07917f2
3:151165532 IGSF10 G>C	3	151165532	151165532	G	C	IGSF10	c.2237C>G	NM_178822.5	NP_849144.2:p.(Pro746Arg)	NC_000003.11:g.151165532G>C	(Likely) pathogenic	1 lab	45a158169b
2:160721355 LY75 T>A	2	160721355	160721355	T	A	LY75	c.2194A>T	NM_002349.4	NP_002340.2:p.(Thr732Ser)	NC_000002.11:g.160721355T>A	VUS	1 lab	45a1745379
7:47882585 PKD1L1 C>T	7	47882585	47882585	C	T	PKD1L1	c.5420G>A	NM_138295.5	NP_612152.1:p.(Arg1807Gln)	NC_000007.13:g.47882585C>T	VUS	1 lab	45a29c62b9
19:5119731 KDM4B A>T	19	5119731	5119731	A	T	KDM4B	c.1183A>T	NM_015015.3	NP_055830.1:p.(Thr395Ser)	NC_000019.9:g.5119731A>T	VUS	1 lab	45a40a6048
16:89254553 CDH15 C>A	16	89254553	89254553	C	A	CDH15	c.838C>A	NM_004933.3	NP_004924.1:p.(Arg280Ser)	NC_000016.9:g.89254553C>A	VUS	1 lab	45a4e96247
9:12694349 TYRP1 G>A	9	12694349	12694349	G	A	TYRP1	c.353G>A	NM_000550.3	NP_000541.1:p.(Arg118Lys)	NC_000009.11:g.12694349G>A	(Likely) benign	1 lab	45a5ff202f
17:40370894 STAT5B C>T	17	40370894	40370894	C	T	STAT5B	c.836G>A	NM_012448.4	NP_036580.2:p.(Cys279Tyr)	NC_000017.10:g.40370894C>T	VUS	1 lab	45a676234a
3:138119416 MRAS A>G	3	138119416	138119416	A	G	MRAS	c.488A>G	NM_001085049.3	NP_001078518.1:p.(Asn163Ser)	NC_000003.11:g.138119416A>G	VUS	1 lab	45a6a84e65
8:95264268 GEM A>G	8	95264268	95264268	A	G	GEM	c.592T>C	NM_005261.4	NP_005252.1:p.(Cys198Arg)	NC_000008.10:g.95264268A>G	(Likely) benign	1 lab	45a6b27990
14:105859068 PACS2 A>T	14	105859068	105859068	A	T	PACS2	c.2368A>T	NM_001100913.3	NP_001094383.2:p.(Thr790Ser)	NC_000014.8:g.105859068A>T	VUS	1 lab	1ebf10f781
1:155217906 ENTREP3 G>A	1	155217906	155217906	G	A	ENTREP3	c.1768C>T	NM_006589.3	NP_006580.2:p.(Arg590Cys)	NC_000001.10:g.155217906G>A	(Likely) benign	1 lab	45a6d4972c
12:129178467 TMEM132C G>A	12	129178467	129178467	G	A	TMEM132C	c.1543G>A	NM_001136103.3	NP_001129575.2:p.(Ala515Thr)	NC_000012.11:g.129178467G>A	VUS	1 lab	45a7816f78
17:54672038 NOG C>T	17	54672038	54672038	C	T	NOG	c.454C>T	NM_005450.6	NP_005441.1:p.(Gln152Ter)	NC_000017.10:g.54672038C>T	(Likely) pathogenic	1 lab	45a8ea5cc7
3:69058843 EOGT T>C	3	69058843	69058843	T	C	EOGT	c.155A>G	NM_001278689.2	NP_001265618.1:p.(His52Arg)	NC_000003.11:g.69058843T>C	(Likely) benign	1 lab	45a9f08b56
6:43153787 CUL9 G>A	6	43153787	43153787	G	A	CUL9	c.845G>A	NM_015089.4	NP_055904.1:p.(Gly282Glu)	NC_000006.11:g.43153787G>A	(Likely) benign	1 lab	45aa50b47f
X:153218271 HCFC1 C>T	X	153218271	153218271	C	T	HCFC1	c.4636G>A	NM_005334.3	NP_005325.2:p.(Ala1546Thr)	NC_000023.10:g.153218271C>T	(Likely) benign	1 lab	45ab75fcf2
12:122265513 SETD1B C>G	12	122265513	122265513	C	G	SETD1B	c.5426C>G	NM_001353345.2	NP_001340274.1:p.(Thr1809Ser)	NC_000012.11:g.122265513C>G	VUS	1 lab	45ac73a99c
1:39853992 MACF1 G>A	1	39853992	39853992	G	A	MACF1	c.15478G>A	NM_001394062.1	NP_001380991.1:p.(Glu5160Lys)	NC_000001.10:g.39853992G>A	(Likely) benign	1 lab	45aca39831
21:47545713 COL6A2 G>A	21	47545713	47545713	G	A	COL6A2	c.1984G>A	NM_001849.4	NP_001840.3:p.(Val662Met)	NC_000021.8:g.47545713G>A	VUS	1 lab	45adc82fe3
19:52724370 PPP2R1A C>G	19	52724370	52724370	C	G	PPP2R1A	c.1502C>G	NM_014225.6	NP_055040.2:p.(Thr501Arg)	NC_000019.9:g.52724370C>G	VUS	1 lab	45aedc7694
12:116424238 MED13L T>C	12	116424238	116424238	T	C	MED13L	c.4171A>G	NM_015335.5	NP_056150.1:p.(Lys1391Glu)	NC_000012.11:g.116424238T>C	VUS	1 lab	45b2223941
1:66095989 LEPR A>T	1	66095989	66095989	A	T	LEPR	c.2674-5885A>T	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66095989A>T	VUS	1 lab	45b301eb5d
18:14124409 ZNF519 C>A	18	14124409	14124409	C	A	ZNF519	c.70G>T	NM_145287.4	NP_660330.2:p.(Ala24Ser)	NC_000018.9:g.14124409C>A	(Likely) benign	1 lab	45b4b7ba59
13:112722337 SOX1 C>T	13	112722337	112722337	C	T	SOX1	c.365C>T	NM_005986.3	NP_005977.2:p.(Pro122Leu)	NC_000013.10:g.112722337C>T	VUS	1 lab	45b52c3fdf
19:42753881 ERF A>C	19	42753881	42753881	A	C	ERF	c.383T>G	NM_006494.4	NP_006485.2:p.(Val128Gly)	NC_000019.9:g.42753881A>C	VUS	1 lab	45b5ee3885
8:61765819 CHD7 G>A	8	61765819	61765819	G	A	CHD7	c.6535G>A	NM_017780.4	NP_060250.2:p.(Glu2179Lys)	NC_000008.10:g.61765819G>A	VUS	1 lab	45b5f1dcc9
17:48701407 CACNA1G G>A	17	48701407	48701407	G	A	CACNA1G	c.6200G>A	NM_018896.5	NP_061496.2:p.(Arg2067Lys)	NC_000017.10:g.48701407G>A	VUS	1 lab	45b67ed607
16:2158984 PKD1 G>A	16	2158984	2158984	G	A	PKD1	c.6184C>T	NM_001009944.3	NP_001009944.3:p.(Gln2062Ter)	NC_000016.9:g.2158984G>A	(Likely) pathogenic	1 lab	45b6c211fc
17:30310411 SUZ12 C>A	17	30310411	30310411	C	A	SUZ12	c.1023+288C>A	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30310411C>A	(Likely) benign	1 lab	45b80a5f2a
X:63410664 AMER1 C>G	X	63410664	63410664	C	G	AMER1	c.2503G>C	NM_152424.4	NP_689637.3:p.(Ala835Pro)	NC_000023.10:g.63410664C>G	VUS	1 lab	1ec02ba4be
3:136088050 STAG1 C>G	3	136088050	136088050	C	G	STAG1	c.2445G>C	NM_005862.3	NP_005853.2:p.(Gln815His)	NC_000003.11:g.136088050C>G	VUS	1 lab	45b90f255c
20:44049288 PIGT C>T	20	44049288	44049288	C	T	PIGT	c.988C>T	NM_015937.6	NP_057021.2:p.(Arg330Ter)	NC_000020.10:g.44049288C>T	(Likely) pathogenic	1 lab	45b9744a76
15:44068701 ELL3 A>C	15	44068701	44068701	A	C	ELL3	c.168+6T>G	NM_025165.3	NP_079441.1:p.?	NC_000015.9:g.44068701A>C	(Likely) benign	1 lab	45ba142d16
11:58980122 MPEG1 T>C	11	58980122	58980122	T	C	MPEG1	c.217A>G	NM_001039396.2	NP_001034485.1:p.(Thr73Ala)	NC_000011.9:g.58980122T>C	(Likely) benign	1 lab	1ec1467ef3
4:103571698 MANBA G>A	4	103571698	103571698	G	A	MANBA	c.1865C>T	NM_005908.4	NP_005899.3:p.(Thr622Ile)	NC_000004.11:g.103571698G>A	VUS	1 lab	45ba98a646
14:20837532 TEP1 G>A	14	20837532	20837532	G	A	TEP1	c.7627C>T	NM_007110.5	NP_009041.2:p.(Pro2543Ser)	NC_000014.8:g.20837532G>A	(Likely) benign	1 lab	45ba9d21f8
15:63941956 HERC1 C>T	15	63941956	63941956	C	T	HERC1	c.10715G>A	NM_003922.4	NP_003913.3:p.(Arg3572His)	NC_000015.9:g.63941956C>T	VUS	1 lab	45baa2f5fc
X:114425508 RBMXL3 G>A	X	114425508	114425508	G	A	RBMXL3	c.1504G>A	NM_001145346.2	NP_001138818.1:p.(Asp502Asn)	NC_000023.10:g.114425508G>A	(Likely) benign	1 lab	45baaa22e2
16:2817417 SRRM2 C>G	16	2817417	2817417	C	G	SRRM2	c.6888C>G	NM_016333.4	NP_057417.3:p.(Asn2296Lys)	NC_000016.9:g.2817417C>G	VUS	1 lab	45bb233291
18:77475469 CTDP1 G>A	18	77475469	77475469	G	A	CTDP1	c.2009G>A	NM_004715.5	NP_004706.3:p.(Arg670Gln)	NC_000018.9:g.77475469G>A	VUS	1 lab	45bb9f8fd6
17:61994690 GH1 C>T	17	61994690	61994690	C	T	GH1	c.633G>A	NM_000515.5	NP_000506.2:p.(Val211=)	NC_000017.10:g.61994690C>T	(Likely) benign	1 lab	45bf27ce21
3:52400485 DNAH1 A>G	3	52400485	52400485	A	G	DNAH1	c.5531A>G	NM_015512.5	NP_056327.4:p.(Lys1844Arg)	NC_000003.11:g.52400485A>G	VUS	1 lab	45bf6a11ab
X:68059905 EFNB1 C>A	X	68059905	68059905	C	A	EFNB1	c.602C>A	NM_004429.5	NP_004420.1:p.(Ser201Tyr)	NC_000023.10:g.68059905C>A	(Likely) benign	1 lab	45c1a179ae
6:110110847 FIG4 G>A	6	110110847	110110847	G	A	FIG4	c.2147G>A	NM_014845.6	NP_055660.1:p.(Arg716His)	NC_000006.11:g.110110847G>A	VUS	1 lab	45c3e29508
12:111652086 CUX2 G>A	12	111652086	111652086	G	A	CUX2	c.146G>A	NM_015267.4	NP_056082.2:p.(Arg49His)	NC_000012.11:g.111652086G>A	VUS	1 lab	45c49f2ec5
16:23568602 EARS2 G>C	16	23568602	23568602	G	C	EARS2	c.63C>G	NM_001083614.2	NP_001077083.1:p.(Pro21=)	NC_000016.9:g.23568602G>C	VUS	1 lab	45c5310651
2:128459195 WDR33 G>C	2	128459195	128459195	G	C	WDR33	c.*4702C>G	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128459195G>C	VUS	1 lab	45c567093b
11:46001465 PHF21A G>A	11	46001465	46001465	G	A	PHF21A	c.206C>T	NM_001352027.3	NP_001338956.1:p.(Pro69Leu)	NC_000011.9:g.46001465G>A	VUS	1 lab	45c64c78fe
15:89402558 ACAN ACTCACACAGTCGAAACAGCCAC>A	15	89402558	89402583	ACTCACACAGTCGAAACAGCCAC	A	ACAN	c.6746_6767del	NM_001369268.1	NP_001356197.1:p.(His2249ProfsTer60)	NC_000015.9:g.89402562_89402583del	(Likely) pathogenic	1 lab	45c691735d
19:42776681 CIC C>T	19	42776681	42776681	C	T	CIC	c.746C>T	NM_001386298.1	NP_001373227.1:p.(Ala249Val)	NC_000019.9:g.42776681C>T	(Likely) benign	1 lab	45c6f82127
17:10426893 MYH2 C>T	17	10426893	10426893	C	T	MYH2	c.5392G>A	NM_017534.6	NP_060004.3:p.(Asp1798Asn)	NC_000017.10:g.10426893C>T	VUS	1 lab	45c8283adc
12:88480176 CEP290 C>T	12	88480176	88480176	C	T	CEP290	c.4294G>A	NM_025114.4	NP_079390.3:p.(Ala1432Thr)	NC_000012.11:g.88480176C>T	VUS	1 lab	45c90e819c
15:72190892 MYO9A G>A	15	72190892	72190892	G	A	MYO9A	c.3952C>T	NM_006901.4	NP_008832.2:p.(Pro1318Ser)	NC_000015.9:g.72190892G>A	VUS	1 lab	45cb04052d
8:133953631 TG G>A	8	133953631	133953631	G	A	TG	c.5077G>A	NM_003235.5	NP_003226.4:p.(Glu1693Lys)	NC_000008.10:g.133953631G>A	VUS	1 lab	45cb2d70a9
7:31016885 GHRHR T>C	7	31016885	31016885	T	C	GHRHR	c.1105-11T>C	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016885T>C	(Likely) benign	1 lab	45cb3b8d37
7:104719105 KMT2E T>A	7	104719105	104719105	T	A	KMT2E	c.1131-188T>A	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104719105T>A	(Likely) benign	1 lab	45cc22341b
7:2979544 CARD11 G>A	7	2979544	2979544	G	A	CARD11	c.703C>T	NM_032415.7	NP_115791.3:p.(Arg235Trp)	NC_000007.13:g.2979544G>A	(Likely) benign	1 lab	45cc931842
2:196834805 DNAH7 C>A	2	196834805	196834805	C	A	DNAH7	c.2072G>T	NM_018897.3	NP_061720.2:p.(Arg691Leu)	NC_000002.11:g.196834805C>A	VUS	1 lab	45cde3baa8
X:6451962 VCX3A G>C	X	6451962	6451962	G	C	VCX3A	c.385C>G	NM_016379.4	NP_057463.2:p.(Gln129Glu)	NC_000023.10:g.6451962G>C	(Likely) benign	1 lab	45ce8d2ce8
8:66992705 DNAJC5B G>T	8	66992705	66992705	G	T	DNAJC5B	c.427G>T	NM_033105.6	NP_149096.2:p.(Glu143Ter)	NC_000008.10:g.66992705G>T	VUS	1 lab	45cf3018c7
12:112919975 PTPN11 C>T	12	112919975	112919975	C	T	PTPN11	c.1190C>T	NM_002834.5	NP_002825.3:p.(Thr397Met)	NC_000012.11:g.112919975C>T	VUS	1 lab	45d02729f9
11:17470153 ABCC8 A>G	11	17470153	17470153	A	G	ABCC8	c.1242T>C	NM_000352.6	NP_000343.2:p.(Ala414=)	NC_000011.9:g.17470153A>G	(Likely) benign	1 lab	45d04b1d1d
19:41858876 TGFB1 C>G	19	41858876	41858876	C	G	TGFB1	c.74G>C	NM_000660.7	NP_000651.3:p.(Arg25Pro)	NC_000019.9:g.41858876C>G	(Likely) benign	1 lab	45d26c1eea
1:155449392 ASH1L G>A	1	155449392	155449392	G	A	ASH1L	c.3269C>T	NM_018489.3	NP_060959.2:p.(Pro1090Leu)	NC_000001.10:g.155449392G>A	VUS	1 lab	45d30845a3
1:1275198 DVL1 G>C	1	1275198	1275198	G	C	DVL1	c.910-6C>G	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1275198G>C	(Likely) benign	1 lab	45d3853b00
9:140082480 ANAPC2 G>A	9	140082480	140082480	G	A	ANAPC2	c.193C>T	NM_013366.4	NP_037498.1:p.(His65Tyr)	NC_000009.11:g.140082480G>A	(Likely) benign	1 lab	45d4157124
19:39913793 PLEKHG2 A>C	19	39913793	39913793	A	C	PLEKHG2	c.2099A>C	NM_022835.3	NP_073746.2:p.(Gln700Pro)	NC_000019.9:g.39913793A>C	VUS	1 lab	45d4a7a3b0
17:2562814 PAFAH1B1 CA>C	17	2562814	2562835	CA	C	PAFAH1B1	c.33-5831del	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2562835del	(Likely) benign	1 lab	45d5a64f4e
18:48723306 MEX3C C>T	18	48723306	48723306	C	T	MEX3C	c.385G>A	NM_016626.5	NP_057710.3:p.(Glu129Lys)	NC_000018.9:g.48723306C>T	(Likely) benign	1 lab	45d7ff980e
6:163985727 QKI T>TA	6	163985727	163985728	T	TA	QKI	c.934+977dup	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163985728dup	(Likely) benign	1 lab	45d82f7d35
1:2436489 PLCH2 T>G	1	2436489	2436489	T	G	PLCH2	c.4088T>G	NM_014638.4	NP_055453.2:p.(Leu1363Arg)	NC_000001.10:g.2436489T>G	(Likely) benign	1 lab	45d8624b8e
21:45709935 AIRE AC>A	21	45709935	45709940	AC	A	AIRE	c.868del	NM_000383.4	NP_000374.1:p.(Gln290SerfsTer88)	NC_000021.8:g.45709940del	VUS	1 lab	45d8c66be5
2:216285459 FN1 C>A	2	216285459	216285459	C	A	FN1	c.1612G>T	NM_212482.4	NP_997647.2:p.(Gly538Trp)	NC_000002.11:g.216285459C>A	VUS	1 lab	45d9055d64
18:29647864 RNF125 C>T	18	29647864	29647864	C	T	RNF125	c.613-397C>T	NM_017831.4	NP_060301.2:p.?	NC_000018.9:g.29647864C>T	(Likely) benign	1 lab	45d97952cb
18:19358135 MIB1 G>A	18	19358135	19358135	G	A	MIB1	c.703+5G>A	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19358135G>A	(Likely) benign	1 lab	1ecc34da03
12:133252072 POLE C>T	12	133252072	133252072	C	T	POLE	c.1138G>A	NM_006231.4	NP_006222.2:p.(Gly380Ser)	NC_000012.11:g.133252072C>T	VUS	1 lab	45dc245b15
15:99434810 IGF1R C>T	15	99434810	99434810	C	T	IGF1R	c.897C>T	NM_000875.5	NP_000866.1:p.(His299=)	NC_000015.9:g.99434810C>T	(Likely) benign	1 lab	45dd28cc0c
X:13337291 ATXN3L T>C	X	13337291	13337291	T	C	ATXN3L	c.763A>G	NM_001135995.2	NP_001129467.1:p.(Met255Val)	NC_000023.10:g.13337291T>C	(Likely) benign	1 lab	45dd9a60ae
X:153549196 TKTL1 C>G	X	153549196	153549196	C	G	TKTL1	c.1122C>G	NM_012253.4	NP_036385.3:p.(Ile374Met)	NC_000023.10:g.153549196C>G	(Likely) benign	1 lab	45ded4519c
19:18266993 PIK3R2 G>A	19	18266993	18266993	G	A	PIK3R2	c.304G>A	NM_005027.4	NP_005018.2:p.(Asp102Asn)	NC_000019.9:g.18266993G>A	(Likely) benign	1 lab	45df551171
8:110425668 PKHD1L1 G>T	8	110425668	110425668	G	T	PKHD1L1	c.2254G>T	NM_177531.6	NP_803875.2:p.(Gly752Ter)	NC_000008.10:g.110425668G>T	VUS	1 lab	45df56e397
8:11996136 USP17L2 G>C	8	11996136	11996136	G	C	USP17L2	c.134C>G	NM_201402.3	NP_958804.2:p.(Ser45Cys)	NC_000008.10:g.11996136G>C	VUS	1 lab	45dfaf877c
19:42874895 MEGF8 G>A	19	42874895	42874895	G	A	MEGF8	c.7048G>A	NM_001271938.2	NP_001258867.1:p.(Val2350Met)	NC_000019.9:g.42874895G>A	(Likely) benign	1 lab	45e15af8bf
2:166183689 SCN2A C>A	2	166183689	166183689	C	A	SCN2A	c.2149+195C>A	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166183689C>A	(Likely) benign	1 lab	45e217d6d9
5:118809651 HSD17B4 C>T	5	118809651	118809651	C	T	HSD17B4	c.161C>T	NM_000414.4	NP_000405.1:p.(Ala54Val)	NC_000005.9:g.118809651C>T	VUS	1 lab	45e465df8c
5:55081124 DDX4 G>A	5	55081124	55081124	G	A	DDX4	c.626-1G>A	NM_024415.3	NP_077726.1:p.?	NC_000005.9:g.55081124G>A	VUS	1 lab	45e53c744b
12:49418498 KMT2D G>A	12	49418498	49418498	G	A	KMT2D	c.15922-7C>T	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49418498G>A	(Likely) benign	1 lab	45e81c106a
21:38132113 HLCS G>C	21	38132113	38132113	G	C	HLCS	c.2151C>G	NM_001352514.2	NP_001339443.1:p.(Asn717Lys)	NC_000021.8:g.38132113G>C	VUS	1 lab	45f0293733
22:24717637 SPECC1L C>T	22	24717637	24717637	C	T	SPECC1L	c.689C>T	NM_015330.6	NP_056145.5:p.(Thr230Ile)	NC_000022.10:g.24717637C>T	(Likely) benign	1 lab	45f2213a25
12:49434849 KMT2D C>T	12	49434849	49434849	C	T	KMT2D	c.6704G>A	NM_003482.4	NP_003473.3:p.(Arg2235Lys)	NC_000012.11:g.49434849C>T	VUS	1 lab	45f2adc348
11:3063491 CARS1 G>A	11	3063491	3063491	G	A	CARS1	c.275-5C>T	NM_001014437.3	NP_001014437.1:p.?	NC_000011.9:g.3063491G>A	(Likely) benign	1 lab	45f3345723
8:144998038 PLEC T>G	8	144998038	144998038	T	G	PLEC	c.6059A>C	NM_201384.3	NP_958786.1:p.(Glu2020Ala)	NC_000008.10:g.144998038T>G	VUS	1 lab	45f45e90aa
12:116446675 MED13L A>C	12	116446675	116446675	A	C	MED13L	c.1543T>G	NM_015335.5	NP_056150.1:p.(Ser515Ala)	NC_000012.11:g.116446675A>C	(Likely) benign	1 lab	45f51087ac
9:102991949 INVS C>T	9	102991949	102991949	C	T	INVS	c.455C>T	NM_014425.5	NP_055240.2:p.(Ala152Val)	NC_000009.11:g.102991949C>T	VUS	1 lab	45f5144fcd
2:238449505 MLPH C>T	2	238449505	238449505	C	T	MLPH	c.1351C>T	NM_024101.7	NP_077006.1:p.(Pro451Ser)	NC_000002.11:g.238449505C>T	(Likely) benign	1 lab	45f8e0eb50
19:55697904 PTPRH G>C	19	55697904	55697904	G	C	PTPRH	c.2571C>G	NM_002842.5	NP_002833.4:p.(Asp857Glu)	NC_000019.9:g.55697904G>C	VUS	1 lab	45fb3c2ceb
22:28194933 MN1 TTGC>T	22	28194933	28194962	TTGC	T	MN1	c.1596_1598del	NM_002430.3	NP_002421.3:p.(Gln550del)	NC_000022.10:g.28194960_28194962del	(Likely) benign	1 lab	1ed2d9eed7
15:89872335 POLG G>A	15	89872335	89872335	G	A	POLG	c.862C>T	NM_002693.3	NP_002684.1:p.(Arg288Cys)	NC_000015.9:g.89872335G>A	VUS	1 lab	4616928ccc
14:33292908 AKAP6 A>T	14	33292908	33292908	A	T	AKAP6	c.5889A>T	NM_004274.5	NP_004265.3:p.(Lys1963Asn)	NC_000014.8:g.33292908A>T	(Likely) benign	1 lab	4602cb000f
16:29802128 KIF22 AGCTTCAGCGGCG>A	16	29802128	29802142	AGCTTCAGCGGCG	A	KIF22	c.51_62del	NM_007317.3	NP_015556.1:p.(Ser18_Ala21del)	NC_000016.9:g.29802131_29802142del	VUS	1 lab	4602e6bd1d
3:48665458 SLC26A6 T>C	3	48665458	48665458	T	C	SLC26A6	c.1814A>G	NM_022911.3	NP_075062.2:p.(Lys605Arg)	NC_000003.11:g.48665458T>C	VUS	1 lab	4602fc0981
5:149515289 PDGFRB T>A	5	149515289	149515289	T	A	PDGFRB	c.193A>T	NM_002609.4	NP_002600.1:p.(Met65Leu)	NC_000005.9:g.149515289T>A	(Likely) benign	1 lab	46051a72c2
9:115805036 ZFP37 T>G	9	115805036	115805036	T	G	ZFP37	c.1862A>C	NM_003408.3	NP_003399.1:p.(Lys621Thr)	NC_000009.11:g.115805036T>G	(Likely) benign	1 lab	4605fd70be
2:152548814 NEB TG>T	2	152548814	152548818	TG	T	NEB	c.1958del	NM_001164508.2	NP_001157980.2:p.(Pro653GlnfsTer9)	NC_000002.11:g.152548818del	(Likely) pathogenic	1 lab	46070ed1aa
15:63988400 HERC1 G>C	15	63988400	63988400	G	C	HERC1	c.5044C>G	NM_003922.4	NP_003913.3:p.(Leu1682Val)	NC_000015.9:g.63988400G>C	(Likely) benign	1 lab	46072b9949
19:42777949 CIC G>A	19	42777949	42777949	G	A	CIC	c.2014G>A	NM_001386298.1	NP_001373227.1:p.(Val672Met)	NC_000019.9:g.42777949G>A	VUS	1 lab	4607f2fbae
12:113909251 LHX5 A>G	12	113909251	113909251	A	G	LHX5	c.53T>C	NM_022363.3	NP_071758.1:p.(Leu18Pro)	NC_000012.11:g.113909251A>G	VUS	1 lab	4609121786
13:113485689 ATP11A G>A	13	113485689	113485689	G	A	ATP11A	c.1222G>A	NM_015205.3	NP_056020.2:p.(Val408Met)	NC_000013.10:g.113485689G>A	VUS	1 lab	4609b0c07a
X:134294366 CT55 T>A	X	134294366	134294366	T	A	CT55	c.394A>T	NM_001031705.3	NP_001026875.1:p.(Ile132Phe)	NC_000023.10:g.134294366T>A	(Likely) benign	1 lab	460a4a2663
1:22179451 HSPG2 C>T	1	22179451	22179451	C	T	HSPG2	c.6552G>A	NM_005529.7	NP_005520.4:p.(Thr2184=)	NC_000001.10:g.22179451C>T	(Likely) benign	1 lab	460aac3cf0
X:117480539 WDR44 G>A	X	117480539	117480539	G	A	WDR44	c.73G>A	NM_019045.5	NP_061918.3:p.(Val25Met)	NC_000023.10:g.117480539G>A	VUS	1 lab	460aff714f
5:154280908 GEMIN5 T>C	5	154280908	154280908	T	C	GEMIN5	c.3005A>G	NM_015465.5	NP_056280.2:p.(His1002Arg)	NC_000005.9:g.154280908T>C	VUS	1 lab	460c38b76e
17:78059940 CCDC40 G>A	17	78059940	78059940	G	A	CCDC40	c.2374G>A	NM_017950.4	NP_060420.2:p.(Glu792Lys)	NC_000017.10:g.78059940G>A	VUS	1 lab	460f08e5af
X:129147745 BCORL1 G>A	X	129147745	129147745	G	A	BCORL1	c.997G>A	NM_001379451.1	NP_001366380.1:p.(Val333Ile)	NC_000023.10:g.129147745G>A	(Likely) benign	1 lab	460f447384
11:72145250 CLPB C>T	11	72145250	72145250	C	T	CLPB	c.269G>A	NM_001258392.3	NP_001245321.1:p.(Arg90His)	NC_000011.9:g.72145250C>T	(Likely) benign	1 lab	461002915e
10:94408003 KIF11 A>G	10	94408003	94408003	A	G	KIF11	c.2582A>G	NM_004523.4	NP_004514.2:p.(Asp861Gly)	NC_000010.10:g.94408003A>G	(Likely) benign	1 lab	4610390ed2
8:110516556 PKHD1L1 G>T	8	110516556	110516556	G	T	PKHD1L1	c.10829G>T	NM_177531.6	NP_803875.2:p.(Gly3610Val)	NC_000008.10:g.110516556G>T	VUS	1 lab	46106212c7
3:9517723 SETD5 G>A	3	9517723	9517723	G	A	SETD5	c.4277G>A	NM_001080517.3	NP_001073986.1:p.(Arg1426Gln)	NC_000003.11:g.9517723G>A	(Likely) benign	1 lab	4610755de0
9:139399560 NOTCH1 T>TG	9	139399560	139399566	T	TG	NOTCH1	c.4587-5dup	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139399566dup	(Likely) benign	1 lab	461172bf36
7:44190569 GCK C>T	7	44190569	44190569	C	T	GCK	c.469G>A	NM_000162.5	NP_000153.1:p.(Glu157Lys)	NC_000007.13:g.44190569C>T	(Likely) pathogenic	1 lab	4613c6e25d
X:109696667 RTL9 C>T	X	109696667	109696667	C	T	RTL9	c.2822C>T	NM_001385449.1	NP_001372378.1:p.(Thr941Ile)	NC_000023.10:g.109696667C>T	VUS	1 lab	4613f45f7b
11:68115711 LRP5 G>C	11	68115711	68115711	G	C	LRP5	c.488G>C	NM_002335.4	NP_002326.2:p.(Gly163Ala)	NC_000011.9:g.68115711G>C	VUS	1 lab	461560ab4b
2:220416493 OBSL1 G>A	2	220416493	220416493	G	A	OBSL1	c.5441C>T	NM_015311.3	NP_056126.1:p.(Pro1814Leu)	NC_000002.11:g.220416493G>A	VUS	1 lab	4617e799b5
12:56578886 SMARCC2 G>GT	12	56578886	56578887	G	GT	SMARCC2	c.326dup	NM_001330288.2	NP_001317217.1:p.(Tyr109Ter)	NC_000012.11:g.56578887dup	(Likely) pathogenic	1 lab	4619085e1d
2:112608433 ANAPC1 T>C	2	112608433	112608433	T	C	ANAPC1	c.1570A>G	NM_022662.4	NP_073153.1:p.(Thr524Ala)	NC_000002.11:g.112608433T>C	(Likely) benign	1 lab	4619909c0c
4:191003234 MISSING C>T	4	191003234	191003234	C	T	MISSING				NC_000004.11:g.191003234C>T	VUS	1 lab	461a73bc3e
2:179434595 TTN C>A	2	179434595	179434595	C	A	TTN	c.76264G>T	NM_001267550.2	NP_001254479.2:p.(Val25422Leu)	NC_000002.11:g.179434595C>A	VUS	1 lab	461c05c23a
13:32828357 FRY G>A	13	32828357	32828357	G	A	FRY	c.7246-4G>A	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32828357G>A	(Likely) benign	1 lab	461dd327f9
1:181706740 CACNA1E A>G	1	181706740	181706740	A	G	CACNA1E	c.3502A>G	NM_001205293.3	NP_001192222.1:p.(Ile1168Val)	NC_000001.10:g.181706740A>G	VUS	1 lab	461f49372e
11:45986897 PHF21A AC>A	11	45986897	45986898	AC	A	PHF21A	c.964del	NM_001352027.3	NP_001338956.1:p.(Val322TyrfsTer52)	NC_000011.9:g.45986898del	(Likely) pathogenic	1 lab	4620d3282e
4:123161432 BLTP1 G>A	4	123161432	123161432	G	A	BLTP1	c.4595G>A	NM_001384125.1	NP_001371054.1:p.(Arg1532His)	NC_000004.11:g.123161432G>A	(Likely) benign	1 lab	4620f6a2ca
4:154523429 TMEM131L G>A	4	154523429	154523429	G	A	TMEM131L	c.2392G>A	NM_001131007.2	NP_001124479.1:p.(Glu798Lys)	NC_000004.11:g.154523429G>A	VUS	1 lab	462155dc6f
7:100677458 MUC17 G>A	7	100677458	100677458	G	A	MUC17	c.2761G>A	NM_001040105.2	NP_001035194.1:p.(Glu921Lys)	NC_000007.13:g.100677458G>A	(Likely) benign	1 lab	4621ccea02
7:19156803 TWIST1 C>G	7	19156803	19156803	C	G	TWIST1	c.142G>C	NM_000474.4	NP_000465.1:p.(Gly48Arg)	NC_000007.13:g.19156803C>G	VUS	1 lab	4621e4b772
11:1016779 MUC6 G>A	11	1016779	1016779	G	A	MUC6	c.6022C>T	NM_005961.3	NP_005952.2:p.(His2008Tyr)	NC_000011.9:g.1016779G>A	(Likely) benign	1 lab	4621f65481
2:133541334 NCKAP5 TG>T	2	133541334	133541335	TG	T	NCKAP5	c.3049del	NM_207363.3	NP_997246.2:p.(Gln1017LysfsTer15)	NC_000002.11:g.133541335del	VUS	1 lab	46236274c8
4:47427893 GABRB1 G>A	4	47427893	47427893	G	A	GABRB1	c.1283G>A	NM_000812.4	NP_000803.2:p.(Arg428His)	NC_000004.11:g.47427893G>A	(Likely) benign	1 lab	4623707240
7:104745967 KMT2E A>G	7	104745967	104745967	A	G	KMT2E	c.2278A>G	NM_182931.3	NP_891847.1:p.(Ile760Val)	NC_000007.13:g.104745967A>G	VUS	1 lab	4623719ff9
1:10704993 CASZ1 G>A	1	10704993	10704993	G	A	CASZ1	c.3849C>T	NM_001079843.3	NP_001073312.1:p.(Arg1283=)	NC_000001.10:g.10704993G>A	(Likely) benign	1 lab	462424b613
18:60190786 ZCCHC2 C>CCCG	18	60190786	60190806	C	CCCG	ZCCHC2	c.147_149dup	NM_017742.6	NP_060212.4:p.(Pro50dup)	NC_000018.9:g.60190804_60190806dup	VUS	1 lab	462473188e
9:131366892 SPTAN1 G>C	9	131366892	131366892	G	C	SPTAN1	c.3719+196G>C	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131366892G>C	(Likely) benign	1 lab	4626550d39
1:97215243 PTBP2 G>A	1	97215243	97215243	G	A	PTBP2	c.40-1738G>A	NM_021190.4	NP_067013.1:p.?	NC_000001.10:g.97215243G>A	(Likely) benign	1 lab	4626d63e90
1:8420826 RERE C>T	1	8420826	8420826	C	T	RERE	c.2741G>A	NM_001042681.2	NP_001036146.1:p.(Arg914Gln)	NC_000001.10:g.8420826C>T	(Likely) benign	1 lab	462717c3e8
22:45996252 FBLN1 T>G	22	45996252	45996252	T	G	FBLN1	c.2038T>G	NM_006486.3	NP_006477.3:p.(Tyr680Asp)	NC_000022.10:g.45996252T>G	VUS	1 lab	46277ab648
9:131370236 SPTAN1 C>A	9	131370236	131370236	C	A	SPTAN1	c.4252C>A	NM_001130438.3	NP_001123910.1:p.(Gln1418Lys)	NC_000009.11:g.131370236C>A	(Likely) benign	1 lab	4627a80369
2:179411128 TTN C>T	2	179411128	179411128	C	T	TTN	c.94930G>A	NM_001267550.2	NP_001254479.2:p.(Glu31644Lys)	NC_000002.11:g.179411128C>T	VUS	1 lab	4627b96020
17:79801932 P4HB T>C	17	79801932	79801932	T	C	P4HB	c.1483A>G	NM_000918.4	NP_000909.2:p.(Met495Val)	NC_000017.10:g.79801932T>C	(Likely) benign	1 lab	46287359e1
7:127255115 PAX4 C>T	7	127255115	127255115	C	T	PAX4	c.179G>A	NM_001366110.1	NP_001353039.1:p.(Arg60His)	NC_000007.13:g.127255115C>T	VUS	1 lab	4628a0fcad
3:172165425 GHSR T>A	3	172165425	172165425	T	A	GHSR	c.779A>T	NM_198407.2	NP_940799.1:p.(Gln260Leu)	NC_000003.11:g.172165425T>A	VUS	1 lab	462a9f2f78
7:5529733 FBXL18 G>C	7	5529733	5529733	G	C	FBXL18	c.2000+1129C>G	NM_024963.6	NP_079239.3:p.?	NC_000007.13:g.5529733G>C	(Likely) benign	1 lab	462ab56d93
1:1271853 DVL1 G>C	1	1271853	1271853	G	C	DVL1	c.1757C>G	NM_001330311.2	NP_001317240.1:p.(Pro586Arg)	NC_000001.10:g.1271853G>C	(Likely) benign	1 lab	462ba5615d
7:128481390 FLNC C>T	7	128481390	128481390	C	T	FLNC	c.1980C>T	NM_001458.5	NP_001449.3:p.(Pro660=)	NC_000007.13:g.128481390C>T	(Likely) benign	1 lab	462d884c76
8:145001705 PLEC C>T	8	145001705	145001705	C	T	PLEC	c.3629G>A	NM_201384.3	NP_958786.1:p.(Arg1210His)	NC_000008.10:g.145001705C>T	VUS	1 lab	462fd2c2d0
3:100093896 TOMM70 G>A	3	100093896	100093896	G	A	TOMM70	c.1193C>T	NM_014820.5	NP_055635.3:p.(Pro398Leu)	NC_000003.11:g.100093896G>A	VUS	1 lab	463229bdc1
5:127419948 SLC12A2 C>T	5	127419948	127419948	C	T	SLC12A2	c.302C>T	NM_001046.3	NP_001037.1:p.(Ala101Val)	NC_000005.9:g.127419948C>T	(Likely) benign	1 lab	46332bfeab
5:90281078 ADGRV1 G>A	5	90281078	90281078	G	A	ADGRV1	c.17974-83G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90281078G>A	(Likely) benign	1 lab	1f7373d711
3:142234228 ATR GT>G	3	142234228	142234231	GT	G	ATR	c.4503+8del	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142234231del	(Likely) benign	1 lab	463447cae3
X:48629496 GLOD5 A>G	X	48629496	48629496	A	G	GLOD5	c.355A>G	NM_001080489.3	NP_001073958.2:p.(Lys119Glu)	NC_000023.10:g.48629496A>G	(Likely) benign	1 lab	46347c37c4
2:101638759 TBC1D8 C>T	2	101638759	101638759	C	T	TBC1D8	c.2745G>A	NM_001330348.2	NP_001317277.1:p.(Ala915=)	NC_000002.11:g.101638759C>T	(Likely) benign	1 lab	4635537370
14:91804474 CCDC88C G>A	14	91804474	91804474	G	A	CCDC88C	c.925C>T	NM_001080414.4	NP_001073883.2:p.(Arg309Cys)	NC_000014.8:g.91804474G>A	VUS	1 lab	4635dc1f31
21:47565497 FTCD G>A	21	47565497	47565497	G	A	FTCD	c.1099-5C>T	NM_206965.2	NP_996848.1:p.?	NC_000021.8:g.47565497G>A	(Likely) benign	1 lab	4635fc3976
2:152387534 NEB G>A	2	152387534	152387534	G	A	NEB	c.21604C>T	NM_001164508.2	NP_001157980.2:p.(Arg7202Cys)	NC_000002.11:g.152387534G>A	VUS	1 lab	46367e4358
8:124371809 ATAD2 G>A	8	124371809	124371809	G	A	ATAD2	c.1266+8C>T	NM_014109.4	NP_054828.2:p.?	NC_000008.10:g.124371809G>A	(Likely) benign	1 lab	4637b22c7f
14:23851698 MYH6 G>A	14	23851698	23851698	G	A	MYH6	c.5735C>T	NM_002471.4	NP_002462.2:p.(Ala1912Val)	NC_000014.8:g.23851698G>A	VUS	1 lab	463a9323b6
14:103416883 CDC42BPB T>C	14	103416883	103416883	T	C	CDC42BPB	c.3229A>G	NM_006035.4	NP_006026.3:p.(Ile1077Val)	NC_000014.8:g.103416883T>C	(Likely) benign	1 lab	463b318db7
16:89757846 CDK10 C>G	16	89757846	89757846	C	G	CDK10	c.233-5C>G	NM_052988.5	NP_443714.3:p.?	NC_000016.9:g.89757846C>G	VUS	1 lab	463c2d18f8
10:88485953 LDB3 G>A	10	88485953	88485953	G	A	LDB3	c.2053G>A	NM_001171610.2	NP_001165081.1:p.(Asp685Asn)	NC_000010.10:g.88485953G>A	VUS	1 lab	1f73a3accb
9:3248114 RFX3 AGTAGACGGATCAG>A	9	3248114	3248129	AGTAGACGGATCAG	A	RFX3	c.1873_1885del	NM_001282116.2	NP_001269045.1:p.(Leu625SerfsTer9)	NC_000009.11:g.3248117_3248129del	(Likely) pathogenic	1 lab	464002b1b7
20:62126292 EEF1A2 T>C	20	62126292	62126292	T	C	EEF1A2	c.487A>G	NM_001958.5	NP_001949.1:p.(Ser163Gly)	NC_000020.10:g.62126292T>C	(Likely) benign	1 lab	46406e87ae
8:11614503 GATA4 G>A	8	11614503	11614503	G	A	GATA4	c.1060G>A	NM_001308093.3	NP_001295022.1:p.(Ala354Thr)	NC_000008.10:g.11614503G>A	VUS	1 lab	46414eb467
5:132234814 AFF4 G>A	5	132234814	132234814	G	A	AFF4	c.1208C>T	NM_014423.4	NP_055238.1:p.(Pro403Leu)	NC_000005.9:g.132234814G>A	VUS	1 lab	4641cba7df
1:45974837 MMACHC C>T	1	45974837	45974837	C	T	MMACHC	c.799C>T	NM_015506.3	NP_056321.2:p.(Arg267Trp)	NC_000001.10:g.45974837C>T	VUS	1 lab	4642456311
7:140624463 BRAF G>A	7	140624463	140624463	G	A	BRAF	c.41C>T	NM_004333.6	NP_004324.2:p.(Pro14Leu)	NC_000007.13:g.140624463G>A	(Likely) benign	1 lab	4643c205fb
1:17349224 SDHB G>A	1	17349224	17349224	G	A	SDHB	c.644C>T	NM_003000.3	NP_002991.2:p.(Ala215Val)	NC_000001.10:g.17349224G>A	VUS	1 lab	4643cd43e0
19:11098534 SMARCA4 G>T	19	11098534	11098534	G	T	SMARCA4	c.1052G>T	NM_003072.5	NP_003063.2:p.(Arg351Leu)	NC_000019.9:g.11098534G>T	VUS	1 lab	4643f6350d
X:70389622 NLGN3 T>C	X	70389622	70389622	T	C	NLGN3	c.2222T>C	NM_181303.2	NP_851820.1:p.(Leu741Pro)	NC_000023.10:g.70389622T>C	VUS	1 lab	464435f3cf
2:179590749 TTN G>T	2	179590749	179590749	G	T	TTN	c.20300C>A	NM_001267550.2	NP_001254479.2:p.(Pro6767His)	NC_000002.11:g.179590749G>T	VUS	1 lab	4644a1cd17
3:38044021 VILL C>T	3	38044021	38044021	C	T	VILL	c.1614C>T	NM_015873.4	NP_056957.3:p.(Ile538=)	NC_000003.11:g.38044021C>T	VUS	1 lab	46456464e0
2:197090524 HECW2 G>A	2	197090524	197090524	G	A	HECW2	c.3988C>T	NM_001348768.2	NP_001335697.1:p.(Arg1330Trp)	NC_000002.11:g.197090524G>A	(Likely) pathogenic	1 lab	4645d02ba8
2:48982641 LHCGR T>C	2	48982641	48982641	T	C	LHCGR	c.161+9A>G	NM_000233.4	NP_000224.2:p.?	NC_000002.11:g.48982641T>C	(Likely) benign	1 lab	4646b545f2
11:19955181 NAV2 A>G	11	19955181	19955181	A	G	NAV2	c.1391A>G	NM_145117.5	NP_660093.2:p.(Lys464Arg)	NC_000011.9:g.19955181A>G	(Likely) benign	1 lab	4647b772f5
11:111966516 SDHD T>C	11	111966516	111966516	T	C	SDHD	c.*822T>C	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111966516T>C	(Likely) benign	1 lab	46480d31ba
16:3727629 TRAP1 C>T	16	3727629	3727629	C	T	TRAP1	c.574G>A	NM_016292.3	NP_057376.2:p.(Glu192Lys)	NC_000016.9:g.3727629C>T	(Likely) benign	1 lab	1f75d9bb8a
15:28419619 HERC2 C>T	15	28419619	28419619	C	T	HERC2	c.9979G>A	NM_004667.6	NP_004658.3:p.(Val3327Met)	NC_000015.9:g.28419619C>T	(Likely) benign	1 lab	46491bd5e8
19:53573156 ZNF160 T>C	19	53573156	53573156	T	C	ZNF160	c.631A>G	NM_001322131.2	NP_001309060.1:p.(Thr211Ala)	NC_000019.9:g.53573156T>C	(Likely) benign	1 lab	4649d0f71c
20:9440349 PLCB4 A>T	20	9440349	9440349	A	T	PLCB4	c.3140A>T	NM_001377142.1	NP_001364071.1:p.(Glu1047Val)	NC_000020.10:g.9440349A>T	VUS	1 lab	464a154251
4:152571672 FHIP1A C>T	4	152571672	152571672	C	T	FHIP1A	c.2479C>T	NM_001109977.3	NP_001103447.1:p.(Pro827Ser)	NC_000004.11:g.152571672C>T	VUS	1 lab	464be7a8ad
3:129297243 PLXND1 G>A	3	129297243	129297243	G	A	PLXND1	c.2275C>T	NM_015103.3	NP_055918.3:p.(Pro759Ser)	NC_000003.11:g.129297243G>A	(Likely) benign	1 lab	464c6b735b
1:86342815 COL24A1 A>T	1	86342815	86342815	A	T	COL24A1	c.3020T>A	NM_152890.7	NP_690850.2:p.(Met1007Lys)	NC_000001.10:g.86342815A>T	(Likely) benign	1 lab	464c6cea5f
17:62024486 SCN4A C>T	17	62024486	62024486	C	T	SCN4A	c.3360G>A	NM_000334.4	NP_000325.4:p.(Ser1120=)	NC_000017.10:g.62024486C>T	(Likely) benign	1 lab	464de7609f
8:144991600 PLEC G>A	8	144991600	144991600	G	A	PLEC	c.12389C>T	NM_201384.3	NP_958786.1:p.(Thr4130Met)	NC_000008.10:g.144991600G>A	(Likely) benign	1 lab	464e0ee7e8
1:16059150 PLEKHM2 T>C	1	16059150	16059150	T	C	PLEKHM2	c.2849T>C	NM_015164.4	NP_055979.2:p.(Ile950Thr)	NC_000001.10:g.16059150T>C	VUS	1 lab	464f3f3c76
2:179579033 TTN G>A	2	179579033	179579033	G	A	TTN	c.26468C>T	NM_001267550.2	NP_001254479.2:p.(Thr8823Met)	NC_000002.11:g.179579033G>A	VUS	1 lab	464f9af497
X:152735991 HAUS7 C>A	X	152735991	152735991	C	A	HAUS7	c.25G>T	NM_001385482.1	NP_001372411.1:p.(Gly9Cys)	NC_000023.10:g.152735991C>A	(Likely) benign	1 lab	4650f17288
15:66996104 SMAD6 C>T	15	66996104	66996104	C	T	SMAD6	c.508C>T	NM_005585.5	NP_005576.3:p.(Gln170Ter)	NC_000015.9:g.66996104C>T	VUS	1 lab	4651d3a058
11:613884 IRF7 C>T	11	613884	613884	C	T	IRF7	c.806-19G>A	NM_004031.4	NP_004022.2:p.?	NC_000011.9:g.613884C>T	(Likely) benign	1 lab	35a5308447
16:88783234 PIEZO1 G>A	16	88783234	88783234	G	A	PIEZO1	c.6733C>T	NM_001142864.4	NP_001136336.2:p.(Arg2245Trp)	NC_000016.9:g.88783234G>A	VUS	1 lab	4655852c95
16:348128 AXIN1 G>A	16	348128	348128	G	A	AXIN1	c.1378C>T	NM_003502.4	NP_003493.1:p.(Arg460Trp)	NC_000016.9:g.348128G>A	VUS	1 lab	4657bab4fa
4:5721030 EVC C>T	4	5721030	5721030	C	T	EVC	c.230C>T	NM_153717.3	NP_714928.1:p.(Ser77Leu)	NC_000004.11:g.5721030C>T	(Likely) benign	1 lab	4658ef7879
2:179549074 TTN G>A	2	179549074	179549074	G	A	TTN	c.32705C>T	NM_001267550.2	NP_001254479.2:p.(Ala10902Val)	NC_000002.11:g.179549074G>A	VUS	1 lab	4659017f65
14:103395155 AMN G>T	14	103395155	103395155	G	T	AMN	c.356G>T	NM_030943.4	NP_112205.2:p.(Arg119Leu)	NC_000014.8:g.103395155G>T	(Likely) benign	1 lab	465b9adb13
17:4448350 MYBBP1A T>G	17	4448350	4448350	T	G	MYBBP1A	c.2281A>C	NM_014520.4	NP_055335.2:p.(Met761Leu)	NC_000017.10:g.4448350T>G	(Likely) benign	1 lab	465c3bc73f
12:2622033 CACNA1C C>T	12	2622033	2622033	C	T	CACNA1C	c.1273C>T	NM_000719.7	NP_000710.5:p.(Arg425Trp)	NC_000012.11:g.2622033C>T	(Likely) benign	1 lab	465d1d4b79
12:25380247 KRAS A>G	12	25380247	25380247	A	G	KRAS	c.211T>C	NM_004985.5	NP_004976.2:p.(Tyr71His)	NC_000012.11:g.25380247A>G	(Likely) pathogenic	1 lab	465d7ed487
5:59189215 PDE4D G>A	5	59189215	59189215	G	A	PDE4D	c.235C>T	NM_001104631.2	NP_001098101.1:p.(Pro79Ser)	NC_000005.9:g.59189215G>A	(Likely) benign	1 lab	4661853116
X:152014893 NSDHL A>G	X	152014893	152014893	A	G	NSDHL	c.25A>G	NM_015922.3	NP_057006.1:p.(Met9Val)	NC_000023.10:g.152014893A>G	(Likely) benign	1 lab	46627db3ce
11:615103 IRF7 G>A	11	615103	615103	G	A	IRF7	c.177C>T	NM_001572.5	NP_001563.2:p.(Ile59=)	NC_000011.9:g.615103G>A	(Likely) benign	1 lab	466451d72b
X:153455373 OPN1MW T>C	X	153455373	153455373	T	C	OPN1MW	c.410-170T>C	NM_000513.2	NP_000504.1:p.?	NC_000023.10:g.153455373T>C	VUS	1 lab	4667b149b8
1:17322917 ATP13A2 G>C	1	17322917	17322917	G	C	ATP13A2	c.1270C>G	NM_022089.4	NP_071372.1:p.(His424Asp)	NC_000001.10:g.17322917G>C	VUS	1 lab	466af00d51
21:45708305 AIRE G>C	21	45708305	45708305	G	C	AIRE	c.616G>C	NM_000383.4	NP_000374.1:p.(Val206Leu)	NC_000021.8:g.45708305G>C	(Likely) benign	1 lab	466d64ea1c
8:70517100 SULF1 A>G	8	70517100	70517100	A	G	SULF1	c.1310A>G	NM_001128205.2	NP_001121677.1:p.(Lys437Arg)	NC_000008.10:g.70517100A>G	VUS	1 lab	466f6876f5
8:100523443 VPS13B C>T	8	100523443	100523443	C	T	VPS13B	c.4336C>T	NM_152564.5	NP_689777.3:p.(Arg1446Ter)	NC_000008.10:g.100523443C>T	(Likely) pathogenic	1 lab	46706a00d0
10:70775997 KIFBP AAG>A	10	70775997	70776001	AAG	A	KIFBP	c.1694_1695del	NM_015634.4	NP_056449.1:p.(Glu565AlafsTer16)	NC_000010.10:g.70776000_70776001del	VUS	1 lab	467123cd19
6:38897452 DNAH8 G>T	6	38897452	38897452	G	T	DNAH8	c.11274+10G>T	NM_001206927.2	NP_001193856.1:p.?	NC_000006.11:g.38897452G>T	(Likely) benign	1 lab	4671df8704
15:45694840 AFG2B T>G	15	45694840	45694840	T	G	AFG2B	c.213T>G	NM_024063.3	NP_076968.2:p.(Phe71Leu)	NC_000015.9:g.45694840T>G	VUS	1 lab	46726eecec
10:23728841 OTUD1 C>T	10	23728841	23728841	C	T	OTUD1	c.455C>T	NM_001145373.3	NP_001138845.1:p.(Ala152Val)	NC_000010.10:g.23728841C>T	(Likely) benign	1 lab	467649aaf3
11:44135742 EXT2 T>A	11	44135742	44135742	T	A	EXT2	c.634T>A	NM_207122.2	NP_997005.1:p.(Leu212Met)	NC_000011.9:g.44135742T>A	VUS	1 lab	467655a5fc
21:34003942 SYNJ1 G>A	21	34003942	34003942	G	A	SYNJ1	c.*173C>T	NM_203446.3	NP_982271.3:p.?	NC_000021.8:g.34003942G>A	(Likely) benign	1 lab	467866ec28
12:111785436 CUX2 CA>C	12	111785436	111785437	CA	C	CUX2	c.3769del	NM_015267.4	NP_056082.2:p.(Thr1257ProfsTer16)	NC_000012.11:g.111785437del	(Likely) benign	1 lab	467867a436
6:30622490 DHX16 A>G	6	30622490	30622490	A	G	DHX16	c.2990T>C	NM_003587.5	NP_003578.2:p.(Met997Thr)	NC_000006.11:g.30622490A>G	VUS	1 lab	4679288ed8
1:231396268 GNPAT C>T	1	231396268	231396268	C	T	GNPAT	c.277C>T	NM_014236.4	NP_055051.1:p.(Leu93Phe)	NC_000001.10:g.231396268C>T	(Likely) benign	1 lab	467a97b150
7:100419907 EPHB4 T>C	7	100419907	100419907	T	C	EPHB4	c.794A>G	NM_004444.5	NP_004435.3:p.(Asn265Ser)	NC_000007.13:g.100419907T>C	VUS	1 lab	467b932afe
11:67789052 ALDH3B1 G>A	11	67789052	67789052	G	A	ALDH3B1	c.661G>A	NM_000694.4	NP_000685.1:p.(Asp221Asn)	NC_000011.9:g.67789052G>A	VUS	1 lab	467bc6ef49
16:30733958 SRCAP C>A	16	30733958	30733958	C	A	SRCAP	c.3781C>A	NM_006662.3	NP_006653.2:p.(Gln1261Lys)	NC_000016.9:g.30733958C>A	VUS	1 lab	467c6333cc
20:62325079 RTEL1 A>T	20	62325079	62325079	A	T	RTEL1	c.2992+443A>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62325079A>T	(Likely) benign	1 lab	467cb06a04
4:183658111 TENM3 G>A	4	183658111	183658111	G	A	TENM3	c.3118G>A	NM_001080477.4	NP_001073946.1:p.(Val1040Ile)	NC_000004.11:g.183658111G>A	VUS	1 lab	467d1c6686
12:48372371 COL2A1 G>A	12	48372371	48372371	G	A	COL2A1	c.2895+9C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48372371G>A	(Likely) benign	1 lab	467db280ea
3:48690599 CELSR3 C>T	3	48690599	48690599	C	T	CELSR3	c.5470G>A	NM_001407.3	NP_001398.2:p.(Val1824Met)	NC_000003.11:g.48690599C>T	(Likely) benign	1 lab	467e45c035
5:138356971 SIL1 G>A	5	138356971	138356971	G	A	SIL1	c.656C>T	NM_022464.5	NP_071909.1:p.(Ala219Val)	NC_000005.9:g.138356971G>A	VUS	1 lab	467e4b4a39
19:7141821 INSR G>C	19	7141821	7141821	G	C	INSR	c.2549C>G	NM_000208.4	NP_000199.2:p.(Ala850Gly)	NC_000019.9:g.7141821G>C	VUS	1 lab	467ed0f0f3
19:3980568 EEF2 C>T	19	3980568	3980568	C	T	EEF2	c.1290G>A	NM_001961.4	NP_001952.1:p.(Met430Ile)	NC_000019.9:g.3980568C>T	(Likely) benign	1 lab	4681cf482d
7:150763854 SLC4A2 T>C	7	150763854	150763854	T	C	SLC4A2	c.823+6T>C	NM_003040.4	NP_003031.3:p.?	NC_000007.13:g.150763854T>C	(Likely) benign	1 lab	46826c252c
11:126314876 KIRREL3 T>C	11	126314876	126314876	T	C	KIRREL3	c.1250A>G	NM_032531.4	NP_115920.1:p.(Asn417Ser)	NC_000011.9:g.126314876T>C	(Likely) benign	1 lab	46835307ae
14:23902904 MYH7 G>A	14	23902904	23902904	G	A	MYH7	c.38C>T	NM_000257.4	NP_000248.2:p.(Ala13Val)	NC_000014.8:g.23902904G>A	VUS	1 lab	46838f451b
1:197072697 ASPM C>A	1	197072697	197072697	C	A	ASPM	c.5684G>T	NM_018136.5	NP_060606.3:p.(Arg1895Ile)	NC_000001.10:g.197072697C>A	VUS	1 lab	468394f0b9
12:48539337 PFKM T>C	12	48539337	48539337	T	C	PFKM	c.2199-10T>C	NM_000289.6	NP_000280.1:p.?	NC_000012.11:g.48539337T>C	VUS	1 lab	4683d0ef0d
17:36060972 HNF1B A>G	17	36060972	36060972	A	G	HNF1B	c.1534+16T>C	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36060972A>G	(Likely) benign	1 lab	46840d2992
7:151860431 KMT2C G>T	7	151860431	151860431	G	T	KMT2C	c.10231C>A	NM_170606.3	NP_733751.2:p.(Gln3411Lys)	NC_000007.13:g.151860431G>T	VUS	1 lab	468484c02c
7:143018908 CLCN1 G>A	7	143018908	143018908	G	A	CLCN1	c.663G>A	NM_000083.3	NP_000074.3:p.(Ala221=)	NC_000007.13:g.143018908G>A	(Likely) benign	1 lab	4684cb81d6
20:39317348 MAFB C>G	20	39317348	39317348	C	G	MAFB	c.143G>C	NM_005461.5	NP_005452.2:p.(Arg48Pro)	NC_000020.10:g.39317348C>G	VUS	1 lab	4684ce6ef7
2:170175352 LRP2 T>A	2	170175352	170175352	T	A	LRP2	c.230A>T	NM_004525.3	NP_004516.2:p.(Glu77Val)	NC_000002.11:g.170175352T>A	VUS	1 lab	4685256111
6:7578716 DSP G>A	6	7578716	7578716	G	A	DSP	c.3005G>A	NM_004415.2	NP_004406.2:p.(Arg1002Gln)	NC_000006.11:g.7578716G>A	VUS	1 lab	1f78a84427
X:54964165 PFKFB1 T>A	X	54964165	54964165	T	A	PFKFB1	c.1099-8A>T	NM_002625.4	NP_002616.2:p.?	NC_000023.10:g.54964165T>A	(Likely) benign	1 lab	46864cc366
3:14214374 XPC C>T	3	14214374	14214374	C	T	XPC	c.292G>A	NM_004628.5	NP_004619.3:p.(Asp98Asn)	NC_000003.11:g.14214374C>T	VUS	1 lab	46884288ff
16:68014292 DPEP3 G>A	16	68014292	68014292	G	A	DPEP3	c.-9C>T	NM_001370198.1	NP_001357127.1:p.?	NC_000016.9:g.68014292G>A	(Likely) benign	1 lab	46889a7882
9:35792509 NPR2 ACCTGAGCTATG>A	9	35792509	35792524	ACCTGAGCTATG	A	NPR2	c.109_119del	NM_003995.4	NP_003986.2:p.(Ser37GlyfsTer37)	NC_000009.11:g.35792514_35792524del	(Likely) pathogenic	1 lab	4688a7f47a
3:46935466 PTH1R G>A	3	46935466	46935466	G	A	PTH1R	c.145G>A	NM_000316.3	NP_000307.1:p.(Glu49Lys)	NC_000003.11:g.46935466G>A	VUS	1 lab	4688ee0de5
17:39261828 KRTAP4-9 CTTGTT>C	17	39261828	39261833	CTTGTT	C	KRTAP4-9	c.189_193del	NM_001146041.1	NP_001139513.1:p.(Cys64ProfsTer46)	NC_000017.10:g.39261829_39261833del	(Likely) benign	1 lab	468a14b451
4:6304142 WFS1 G>A	4	6304142	6304142	G	A	WFS1	c.2620G>A	NM_006005.3	NP_005996.2:p.(Ala874Thr)	NC_000004.11:g.6304142G>A	VUS	1 lab	468d04f165
10:124810585 ACADSB T>TC	10	124810585	124810586	T	TC	ACADSB	c.1012dup	NM_001609.4	NP_001600.1:p.(His338ProfsTer18)	NC_000010.10:g.124810586dup	VUS	1 lab	468da6a6c5
X:70339825 MED12 G>A	X	70339825	70339825	G	A	MED12	c.397-39G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70339825G>A	(Likely) benign	1 lab	1f7944605f
17:42288323 UBTF G>A	17	42288323	42288323	G	A	UBTF	c.1204-8C>T	NM_014233.4	NP_055048.1:p.?	NC_000017.10:g.42288323G>A	(Likely) benign	1 lab	468f4a243b
4:5785495 EVC CG>C	4	5785495	5785498	CG	C	EVC	c.1776+7del	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5785498del	(Likely) benign	1 lab	468fef94f3
16:30102391 TBX6 G>A	16	30102391	30102391	G	A	TBX6	c.118+6C>T	NM_004608.4	NP_004599.2:p.?	NC_000016.9:g.30102391G>A	(Likely) benign	1 lab	46908d9fd7
10:131671760 EBF3 C>T	10	131671760	131671760	C	T	EBF3	c.737G>A	NM_001375380.1	NP_001362309.1:p.(Arg246His)	NC_000010.10:g.131671760C>T	VUS	1 lab	4690a0bc32
6:43005617 CUL7 G>A	6	43005617	43005617	G	A	CUL7	c.4906C>T	NM_014780.5	NP_055595.2:p.(Arg1636Cys)	NC_000006.11:g.43005617G>A	VUS	1 lab	4691201be2
20:5092234 TMEM230 G>A	20	5092234	5092234	G	A	TMEM230	c.-16+1373C>T	NM_001009925.2	NP_001009925.1:p.?	NC_000020.10:g.5092234G>A	VUS	1 lab	4691df3583
10:70210014 DNA2 A>G	10	70210014	70210014	A	G	DNA2	c.720-10T>C	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70210014A>G	(Likely) benign	1 lab	469403f01d
16:29821420 MAZ GGCGGCGGCAGCGGCA>G	16	29821420	29821452	GGCGGCGGCAGCGGCA	G	MAZ	c.1320_1334del	NM_002383.4	NP_002374.2:p.(Ala444_Ala448del)	NC_000016.9:g.29821438_29821452del	(Likely) benign	1 lab	4694501fd4
12:64174834 RXYLT1 T>C	12	64174834	64174834	T	C	RXYLT1	c.205T>C	NM_014254.3	NP_055069.1:p.(Trp69Arg)	NC_000012.11:g.64174834T>C	VUS	1 lab	469757a13a
12:64712543 C12orf56 T>C	12	64712543	64712543	T	C	C12orf56	c.706A>G	NM_001170633.2	NP_001164104.1:p.(Ile236Val)	NC_000012.11:g.64712543T>C	VUS	1 lab	4699a5f978
11:6652893 DCHS1 G>A	11	6652893	6652893	G	A	DCHS1	c.3629C>T	NM_003737.4	NP_003728.1:p.(Thr1210Met)	NC_000011.9:g.6652893G>A	VUS	1 lab	4699e465a8
15:64005558 HERC1 A>T	15	64005558	64005558	A	T	HERC1	c.4457T>A	NM_003922.4	NP_003913.3:p.(Met1486Lys)	NC_000015.9:g.64005558A>T	VUS	1 lab	469a576528
12:56482649 ERBB3 A>G	12	56482649	56482649	A	G	ERBB3	c.1106A>G	NM_001982.4	NP_001973.2:p.(Asn369Ser)	NC_000012.11:g.56482649A>G	VUS	1 lab	469b2000bc
7:144071906 ARHGEF5 C>A	7	144071906	144071906	C	A	ARHGEF5	c.4222C>A	NM_005435.4	NP_005426.2:p.(Leu1408Ile)	NC_000007.13:g.144071906C>A	(Likely) benign	1 lab	469b78ddfc
2:27665584 KRTCAP3 C>A	2	27665584	27665584	C	A	KRTCAP3	c.167C>A	NM_173853.4	NP_776252.2:p.(Pro56Gln)	NC_000002.11:g.27665584C>A	VUS	1 lab	469bf3febd
7:1517278 INTS1 C>T	7	1517278	1517278	C	T	INTS1	c.4846G>A	NM_001080453.3	NP_001073922.2:p.(Gly1616Ser)	NC_000007.13:g.1517278C>T	VUS	1 lab	469dfffcba
2:63223906 EHBP1 G>T	2	63223906	63223906	G	T	EHBP1	c.3103+5G>T	NM_001142616.3	NP_001136088.1:p.?	NC_000002.11:g.63223906G>T	(Likely) benign	1 lab	469ea46478
9:131397002 DYNC2I2 G>A	9	131397002	131397002	G	A	DYNC2I2	c.1180C>T	NM_052844.4	NP_443076.2:p.(Pro394Ser)	NC_000009.11:g.131397002G>A	VUS	1 lab	469ec6f23d
2:179612785 TTN A>G	2	179612785	179612785	A	G	TTN	c.11311+5066T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612785A>G	(Likely) benign	1 lab	469fc02d51
2:27449140 CAD G>A	2	27449140	27449140	G	A	CAD	c.1984G>A	NM_004341.5	NP_004332.2:p.(Val662Ile)	NC_000002.11:g.27449140G>A	VUS	1 lab	46a0cb78ef
1:120611980 NOTCH2 G>C	1	120611980	120611980	G	C	NOTCH2	c.41C>G	NM_024408.4	NP_077719.2:p.(Ala14Gly)	NC_000001.10:g.120611980G>C	(Likely) benign	1 lab	46a1088629
22:51117800 SHANK3 G>A	22	51117800	51117800	G	A	SHANK3	c.1054G>A	NM_001372044.2	NP_001358973.1:p.(Gly352Arg)	NC_000022.10:g.51117800G>A	(Likely) benign	1 lab	46a21fd720
4:5633726 EVC2 G>A	4	5633726	5633726	G	A	EVC2	c.1504C>T	NM_147127.5	NP_667338.3:p.(Leu502Phe)	NC_000004.11:g.5633726G>A	VUS	1 lab	46a2a73507
10:115405580 NRAP G>A	10	115405580	115405580	G	A	NRAP	c.1110+4C>T	NM_198060.4	NP_932326.2:p.?	NC_000010.10:g.115405580G>A	(Likely) benign	1 lab	46a3401ffa
9:100616694 FOXE1 TGCCGCA>T	9	100616694	100616705	TGCCGCA	T	FOXE1	c.504_509del	NM_004473.4	NP_004464.2:p.(Ala178_Ala179del)	NC_000009.11:g.100616700_100616705del	VUS	1 lab	46a4c72d9a
12:56478964 ERBB3 C>T	12	56478964	56478964	C	T	ERBB3	c.420C>T	NM_001982.4	NP_001973.2:p.(Thr140=)	NC_000012.11:g.56478964C>T	(Likely) benign	1 lab	46a6e71ffe
11:11971916 USP47 G>A	11	11971916	11971916	G	A	USP47	c.3470G>A	NM_001282659.2	NP_001269588.1:p.(Arg1157His)	NC_000011.9:g.11971916G>A	(Likely) benign	1 lab	46a9124de4
15:90212918 PLIN1 G>T	15	90212918	90212918	G	T	PLIN1	c.599-15C>A	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90212918G>T	(Likely) benign	1 lab	46aad43991
1:87570186 HS2ST1 A>G	1	87570186	87570186	A	G	HS2ST1	c.878A>G	NM_012262.4	NP_036394.1:p.(Lys293Arg)	NC_000001.10:g.87570186A>G	VUS	1 lab	46ab07ac84
1:1273479 DVL1 G>A	1	1273479	1273479	G	A	DVL1	c.1592C>T	NM_001330311.2	NP_001317240.1:p.(Pro531Leu)	NC_000001.10:g.1273479G>A	(Likely) benign	1 lab	46ad840153
2:168994703 STK39 G>A	2	168994703	168994703	G	A	STK39	c.869C>T	NM_013233.3	NP_037365.2:p.(Pro290Leu)	NC_000002.11:g.168994703G>A	VUS	1 lab	46ae0ba2a5
2:179425740 TTN C>A	2	179425740	179425740	C	A	TTN	c.85119G>T	NM_001267550.2	NP_001254479.2:p.(Glu28373Asp)	NC_000002.11:g.179425740C>A	(Likely) benign	1 lab	46ae8168ef
3:58097944 FLNB G>C	3	58097944	58097944	G	C	FLNB	c.2644G>C	NM_001457.4	NP_001448.2:p.(Val882Leu)	NC_000003.11:g.58097944G>C	VUS	1 lab	46b0188443
9:745182 KANK1 A>G	9	745182	745182	A	G	KANK1	c.4006A>G	NM_015158.5	NP_055973.2:p.(Arg1336Gly)	NC_000009.11:g.745182A>G	VUS	1 lab	46b0d3625f
1:152281142 FLG CTT>C	1	152281142	152281145	CTT	C	FLG	c.6218_6219del	NM_002016.2	NP_002007.1:p.(Lys2073ArgfsTer25)	NC_000001.10:g.152281144_152281145del	VUS	1 lab	46b21e9ec7
9:130941306 CIZ1 G>C	9	130941306	130941306	G	C	CIZ1	c.1180C>G	NM_001131016.2	NP_001124488.1:p.(Gln394Glu)	NC_000009.11:g.130941306G>C	(Likely) benign	1 lab	46b3311a28
17:648937 GEMIN4 G>C	17	648937	648937	G	C	GEMIN4	c.2346C>G	NM_015721.3	NP_056536.2:p.(Phe782Leu)	NC_000017.10:g.648937G>C	(Likely) benign	1 lab	46b44dc0d4
9:94842338 SPTLC1 G>A	9	94842338	94842338	G	A	SPTLC1	c.387C>T	NM_006415.4	NP_006406.1:p.(Gly129=)	NC_000009.11:g.94842338G>A	(Likely) benign	1 lab	46b4de679e
1:74715169 TNNI3K A>T	1	74715169	74715169	A	T	TNNI3K	c.176A>T	NM_015978.3	NP_057062.1:p.(Asn59Ile)	NC_000001.10:g.74715169A>T	VUS	1 lab	46b613e1f1
11:112832391 NCAM1 AT>A	11	112832391	112832405	AT	A	NCAM1	c.52+19del	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.112832405del	(Likely) benign	1 lab	46b73670ef
1:113635905 LRIG2 AAGTT>A	1	113635905	113635912	AAGTT	A	LRIG2	c.380+7_380+10del	NM_014813.3	NP_055628.1:p.?	NC_000001.10:g.113635909_113635912del	VUS	1 lab	46b752fa01
2:179635288 TTN C>G	2	179635288	179635288	C	G	TTN	c.8231G>C	NM_001267550.2	NP_001254479.2:p.(Gly2744Ala)	NC_000002.11:g.179635288C>G	(Likely) benign	1 lab	46b7dee6c4
11:2182185 INS C>T	11	2182185	2182185	C	T	INS	c.17G>A	NM_000207.3	NP_000198.1:p.(Arg6His)	NC_000011.9:g.2182185C>T	(Likely) pathogenic	1 lab	46b823a0be
3:47125370 SETD2 C>T	3	47125370	47125370	C	T	SETD2	c.5900G>A	NM_014159.7	NP_054878.5:p.(Gly1967Asp)	NC_000003.11:g.47125370C>T	(Likely) benign	1 lab	46b830663b
15:73409054 NEO1 C>T	15	73409054	73409054	C	T	NEO1	c.304C>T	NM_002499.4	NP_002490.2:p.(Gln102Ter)	NC_000015.9:g.73409054C>T	VUS	1 lab	46b9d8d0e5
19:15374334 BRD4 C>T	19	15374334	15374334	C	T	BRD4	c.1238G>A	NM_001379291.1	NP_001366220.1:p.(Arg413His)	NC_000019.9:g.15374334C>T	(Likely) benign	1 lab	46ba2e088f
20:47886696 ZNFX1 C>G	20	47886696	47886696	C	G	ZNFX1	c.1653G>C	NM_021035.3	NP_066363.1:p.(Met551Ile)	NC_000020.10:g.47886696C>G	VUS	1 lab	46bc1c4dfc
21:47406914 COL6A1 G>A	21	47406914	47406914	G	A	COL6A1	c.645G>A	NM_001848.3	NP_001839.2:p.(Ala215=)	NC_000021.8:g.47406914G>A	(Likely) benign	1 lab	46bcb6c36d
17:29556262 NF1 A>G	17	29556262	29556262	A	G	NF1	c.2629A>G	NM_001042492.3	NP_001035957.1:p.(Met877Val)	NC_000017.10:g.29556262A>G	VUS	1 lab	46bd63a75c
11:71932628 FOLR2 G>C	11	71932628	71932628	G	C	FOLR2	c.590G>C	NM_000803.5	NP_000794.3:p.(Ser197Thr)	NC_000011.9:g.71932628G>C	(Likely) benign	1 lab	46bd706b9a
17:5462853 NLRP1 C>T	17	5462853	5462853	C	T	NLRP1	c.1163G>A	NM_033004.4	NP_127497.1:p.(Gly388Glu)	NC_000017.10:g.5462853C>T	(Likely) benign	1 lab	1f7c5bc860
5:37045640 NIPBL G>A	5	37045640	37045640	G	A	NIPBL	c.6439G>A	NM_133433.4	NP_597677.2:p.(Val2147Ile)	NC_000005.9:g.37045640G>A	(Likely) benign	1 lab	46c0099419
8:70539528 SULF1 A>G	8	70539528	70539528	A	G	SULF1	c.1934A>G	NM_001128205.2	NP_001121677.1:p.(Tyr645Cys)	NC_000008.10:g.70539528A>G	VUS	1 lab	46c03c94e6
10:117026374 ATRNL1 A>G	10	117026374	117026374	A	G	ATRNL1	c.1873A>G	NM_207303.4	NP_997186.1:p.(Lys625Glu)	NC_000010.10:g.117026374A>G	(Likely) benign	1 lab	46c04111d9
10:72358033 PRF1 C>A	10	72358033	72358033	C	A	PRF1	c.1444G>T	NM_001083116.3	NP_001076585.1:p.(Val482Phe)	NC_000010.10:g.72358033C>A	VUS	1 lab	46cefa4907
4:88536110 DSPP G>GATAGCAGCA	4	88536110	88536112	G	GATAGCAGCA	DSPP	c.2297_2298insTAGCAGCAA	NM_014208.3	NP_055023.2:p.(Ser768_Asp769insAsnSerSer)	NC_000004.11:g.88536111_88536112insTAGCAGCAA	VUS	1 lab	46c0bb55f3
6:50786679 TFAP2B C>G	6	50786679	50786679	C	G	TFAP2B	c.75C>G	NM_003221.4	NP_003212.2:p.(Ile25Met)	NC_000006.11:g.50786679C>G	VUS	1 lab	46c23ef0e3
2:95540669 TEKT4 G>A	2	95540669	95540669	G	A	TEKT4	c.862G>A	NM_144705.4	NP_653306.1:p.(Val288Met)	NC_000002.11:g.95540669G>A	VUS	1 lab	4722a58eec
1:11319433 MTOR C>T	1	11319433	11319433	C	T	MTOR	c.34G>A	NM_004958.4	NP_004949.1:p.(Ala12Thr)	NC_000001.10:g.11319433C>T	(Likely) benign	1 lab	46ee01b0f0
16:71956529 IST1 CATGCCT>C	16	71956529	71956540	CATGCCT	C	IST1	c.711_716del	NM_001270975.2	NP_001257904.1:p.(Met238_Pro239del)	NC_000016.9:g.71956535_71956540del	(Likely) benign	1 lab	46c26ac7f7
10:131639227 EBF3 G>C	10	131639227	131639227	G	C	EBF3	c.1442C>G	NM_001375380.1	NP_001362309.1:p.(Ser481Cys)	NC_000010.10:g.131639227G>C	VUS	1 lab	46c2a53352
14:79432647 NRXN3 C>G	14	79432647	79432647	C	G	NRXN3	c.2675C>G	NM_001330195.2	NP_001317124.1:p.(Ser892Cys)	NC_000014.8:g.79432647C>G	VUS	1 lab	46c434f931
10:93930 TUBB8 C>G	10	93930	93930	C	G	TUBB8	c.402G>C	NM_177987.3	NP_817124.1:p.(Gln134His)	NC_000010.10:g.93930C>G	(Likely) benign	1 lab	46c4e7bd53
15:61352187 RORA G>A	15	61352187	61352187	G	A	RORA	c.166+169065C>T	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.61352187G>A	(Likely) benign	1 lab	46c65e31b2
16:89261271 CDH15 G>A	16	89261271	89261271	G	A	CDH15	c.2153G>A	NM_004933.3	NP_004924.1:p.(Gly718Asp)	NC_000016.9:g.89261271G>A	VUS	1 lab	46c6b32a46
1:202715315 KDM5B T>C	1	202715315	202715315	T	C	KDM5B	c.2153A>G	NM_006618.5	NP_006609.3:p.(His718Arg)	NC_000001.10:g.202715315T>C	VUS	1 lab	46c7076035
19:44117655 SRRM5 A>G	19	44117655	44117655	A	G	SRRM5	c.1382A>G	NM_001145641.2	NP_001139113.1:p.(His461Arg)	NC_000019.9:g.44117655A>G	(Likely) benign	1 lab	46c9484300
8:11615954 GATA4 C>T	8	11615954	11615954	C	T	GATA4	c.1302C>T	NM_001308093.3	NP_001295022.1:p.(Ala434=)	NC_000008.10:g.11615954C>T	(Likely) benign	1 lab	46c9599edd
14:68331717 RAD51B TAGA>T	14	68331717	68331720	TAGA	T	RAD51B	c.316-2_316del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68331718_68331720del	VUS	1 lab	46c99384fe
10:90707098 ACTA2 C>T	10	90707098	90707098	C	T	ACTA2	c.175G>A	NM_001613.2	NP_001604.1:p.(Glu59Lys)	NC_000010.10:g.90707098C>T	VUS	1 lab	1f80224e04
19:18990052 GDF1 G>A	19	18990052	18990052	G	A	GDF1	c.-425C>T	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18990052G>A	(Likely) benign	1 lab	46d2c87bca
9:69238239 ZNG1F G>A	9	69238239	69238239	G	A	ZNG1F	c.653C>T	NM_001085457.2	NP_001078926.1:p.(Thr218Met)	NC_000009.11:g.69238239G>A	VUS	1 lab	46d4884998
X:32716015 DMD T>C	X	32716015	32716015	T	C	DMD	c.932A>G	NM_004006.3	NP_003997.2:p.(Asp311Gly)	NC_000023.10:g.32716015T>C	(Likely) benign	1 lab	1edddcfb0f
10:104678860 CNNM2 C>T	10	104678860	104678860	C	T	CNNM2	c.623C>T	NM_017649.5	NP_060119.3:p.(Thr208Met)	NC_000010.10:g.104678860C>T	VUS	1 lab	46d81f3427
3:184071476 CLCN2 C>T	3	184071476	184071476	C	T	CLCN2	c.1829G>A	NM_004366.6	NP_004357.3:p.(Arg610Gln)	NC_000003.11:g.184071476C>T	VUS	1 lab	46db6be3bf
8:95183186 CDH17 A>G	8	95183186	95183186	A	G	CDH17	c.811T>C	NM_004063.4	NP_004054.3:p.(Tyr271His)	NC_000008.10:g.95183186A>G	VUS	1 lab	46df1fe91b
7:138946363 UBN2 C>T	7	138946363	138946363	C	T	UBN2	c.1271C>T	NM_173569.4	NP_775840.3:p.(Ser424Leu)	NC_000007.13:g.138946363C>T	(Likely) benign	1 lab	46df56c1de
1:184688309 EDEM3 TTG>T	1	184688309	184688314	TTG	T	EDEM3	c.1146_1147del	NM_025191.4	NP_079467.3:p.(His382GlnfsTer33)	NC_000001.10:g.184688313_184688314del	VUS	1 lab	46e11fcbdf
19:44273678 KCNN4 G>A	19	44273678	44273678	G	A	KCNN4	c.965C>T	NM_002250.3	NP_002241.1:p.(Ala322Val)	NC_000019.9:g.44273678G>A	VUS	1 lab	46e49ea644
17:1629610 WDR81 T>TA	17	1629610	1629611	T	TA	WDR81	c.1358dup	NM_001163809.2	NP_001157281.1:p.(Tyr453Ter)	NC_000017.10:g.1629611dup	(Likely) pathogenic	1 lab	46e5554f35
1:22150639 LDLRAD2 C>T	1	22150639	22150639	C	T	LDLRAD2	c.*1931C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150639C>T	(Likely) benign	1 lab	46e586b298
15:63904570 HERC1 C>T	15	63904570	63904570	C	T	HERC1	c.14280G>A	NM_003922.4	NP_003913.3:p.(Thr4760=)	NC_000015.9:g.63904570C>T	(Likely) benign	1 lab	46e598c734
17:16024572 NCOR1 T>C	17	16024572	16024572	T	C	NCOR1	c.1646A>G	NM_006311.4	NP_006302.2:p.(Lys549Arg)	NC_000017.10:g.16024572T>C	VUS	1 lab	46e7f8a47e
13:50057676 SETDB2 T>TA	13	50057676	50057677	T	TA	SETDB2	c.1459_1460insA	NM_001160308.3	NP_001153780.1:p.(Phe487TyrfsTer21)	NC_000013.10:g.50057676_50057677insA	VUS	1 lab	46e872133d
6:117232135 RFX6 C>T	6	117232135	117232135	C	T	RFX6	c.710C>T	NM_173560.4	NP_775831.2:p.(Thr237Ile)	NC_000006.11:g.117232135C>T	VUS	1 lab	46ec675903
1:109466673 GPSM2 T>C	1	109466673	109466673	T	C	GPSM2	c.1652T>C	NM_013296.5	NP_037428.3:p.(Leu551Pro)	NC_000001.10:g.109466673T>C	VUS	1 lab	46ec80954c
16:2160947 PKD1 CG>C	16	2160947	2160952	CG	C	PKD1	c.4220del	NM_001009944.3	NP_001009944.3:p.(Pro1407ArgfsTer25)	NC_000016.9:g.2160952del	(Likely) pathogenic	1 lab	46ed373894
2:33246146 LTBP1 G>A	2	33246146	33246146	G	A	LTBP1	c.736G>A	NM_206943.4	NP_996826.3:p.(Glu246Lys)	NC_000002.11:g.33246146G>A	(Likely) benign	1 lab	46f161306a
11:102826042 MMP13 C>A	11	102826042	102826042	C	A	MMP13	c.301G>T	NM_002427.4	NP_002418.1:p.(Val101Leu)	NC_000011.9:g.102826042C>A	VUS	1 lab	46f30b0644
4:79295334 FRAS1 T>C	4	79295334	79295334	T	C	FRAS1	c.3080T>C	NM_025074.7	NP_079350.5:p.(Leu1027Pro)	NC_000004.11:g.79295334T>C	VUS	1 lab	46f8b9564c
19:17688814 COLGALT1 T>G	19	17688814	17688814	T	G	COLGALT1	c.1182T>G	NM_024656.4	NP_078932.2:p.(Pro394=)	NC_000019.9:g.17688814T>G	(Likely) benign	1 lab	46fa2f68bd
2:197122584 HECW2 G>A	2	197122584	197122584	G	A	HECW2	c.3382C>T	NM_001348768.2	NP_001335697.1:p.(Arg1128Cys)	NC_000002.11:g.197122584G>A	VUS	1 lab	46fb1a4750
10:97413047 ALDH18A1 G>A	10	97413047	97413047	G	A	ALDH18A1	c.88C>T	NM_002860.4	NP_002851.2:p.(His30Tyr)	NC_000010.10:g.97413047G>A	VUS	1 lab	46fd019fd6
3:69987691 MITF G>A	3	69987691	69987691	G	A	MITF	c.582+491G>A	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.69987691G>A	(Likely) benign	1 lab	46fd8ee8f4
9:98222052 PTCH1 C>A	9	98222052	98222052	C	A	PTCH1	c.2717G>T	NM_000264.5	NP_000255.2:p.(Arg906Leu)	NC_000009.11:g.98222052C>A	VUS	1 lab	46fdcb60e7
17:40485684 STAT3 G>A	17	40485684	40485684	G	A	STAT3	c.1049+7C>T	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40485684G>A	(Likely) benign	1 lab	46fe0e7f31
3:9495513 SETD5 G>A	3	9495513	9495513	G	A	SETD5	c.2437G>A	NM_001080517.3	NP_001073986.1:p.(Glu813Lys)	NC_000003.11:g.9495513G>A	(Likely) benign	1 lab	46ffb48581
8:100836129 VPS13B A>G	8	100836129	100836129	A	G	VPS13B	c.9253A>G	NM_152564.5	NP_689777.3:p.(Thr3085Ala)	NC_000008.10:g.100836129A>G	(Likely) benign	1 lab	4700156e7c
16:30721418 SRCAP G>T	16	30721418	30721418	G	T	SRCAP	c.1103G>T	NM_006662.3	NP_006653.2:p.(Gly368Val)	NC_000016.9:g.30721418G>T	(Likely) benign	1 lab	4701372bc3
9:35062296 VCP T>C	9	35062296	35062296	T	C	VCP	c.863A>G	NM_007126.5	NP_009057.1:p.(Lys288Arg)	NC_000009.11:g.35062296T>C	VUS	1 lab	470379ad1a
19:51871284 CLDND2 G>A	19	51871284	51871284	G	A	CLDND2	c.170-4C>T	NM_152353.3	NP_689566.1:p.?	NC_000019.9:g.51871284G>A	VUS	1 lab	4705f97172
12:25398218 KRAS G>C	12	25398218	25398218	G	C	KRAS	c.101C>G	NM_004985.5	NP_004976.2:p.(Pro34Arg)	NC_000012.11:g.25398218G>C	(Likely) pathogenic	1 lab	1ee30e6996
19:49949949 PIH1D1 A>T	19	49949949	49949949	A	T	PIH1D1	c.690T>A	NM_017916.3	NP_060386.1:p.(Asp230Glu)	NC_000019.9:g.49949949A>T	(Likely) benign	1 lab	4707e92c0c
7:128846416 SMO T>C	7	128846416	128846416	T	C	SMO	c.1252T>C	NM_005631.5	NP_005622.1:p.(Phe418Leu)	NC_000007.13:g.128846416T>C	VUS	1 lab	4707eb8774
X:48319431 SLC38A5 A>G	X	48319431	48319431	A	G	SLC38A5	c.893T>C	NM_033518.4	NP_277053.2:p.(Ile298Thr)	NC_000023.10:g.48319431A>G	VUS	1 lab	4708f8c9e3
19:1020838 TMEM259 G>A	19	1020838	1020838	G	A	TMEM259	c.158C>T	NM_001033026.2	NP_001028198.1:p.(Ala53Val)	NC_000019.9:g.1020838G>A	VUS	1 lab	47092c7670
12:7043696 ATN1 G>C	12	7043696	7043696	G	C	ATN1	c.234G>C	NM_001940.4	NP_001931.2:p.(Glu78Asp)	NC_000012.11:g.7043696G>C	(Likely) benign	1 lab	4709677dba
X:153592993 FLNA G>A	X	153592993	153592993	G	A	FLNA	c.1923C>T	NM_001110556.2	NP_001104026.1:p.(Gly641=)	NC_000023.10:g.153592993G>A	(Likely) pathogenic	1 lab	470a6cfbab
11:68153907 LRP5 A>G	11	68153907	68153907	A	G	LRP5	c.1139A>G	NM_002335.4	NP_002326.2:p.(Tyr380Cys)	NC_000011.9:g.68153907A>G	VUS	1 lab	470e61812f
X:69606531 KIF4A C>G	X	69606531	69606531	C	G	KIF4A	c.2098C>G	NM_012310.5	NP_036442.3:p.(Leu700Val)	NC_000023.10:g.69606531C>G	VUS	1 lab	470e6ae396
1:120284519 PHGDH A>G	1	120284519	120284519	A	G	PHGDH	c.1208A>G	NM_006623.4	NP_006614.2:p.(Asn403Ser)	NC_000001.10:g.120284519A>G	VUS	1 lab	470e713ff0
13:31789199 B3GLCT G>T	13	31789199	31789199	G	T	B3GLCT	c.82G>T	NM_194318.4	NP_919299.3:p.(Ala28Ser)	NC_000013.10:g.31789199G>T	(Likely) benign	1 lab	470ea43e78
14:58926564 KIAA0586 G>A	14	58926564	58926564	G	A	KIAA0586	c.1660G>A	NM_001329943.3	NP_001316872.1:p.(Glu554Lys)	NC_000014.8:g.58926564G>A	VUS	1 lab	470edaae30
15:99459981 IGF1R G>C	15	99459981	99459981	G	C	IGF1R	c.2077G>C	NM_000875.5	NP_000866.1:p.(Gly693Arg)	NC_000015.9:g.99459981G>C	VUS	1 lab	470f37f587
X:8538712 ANOS1 C>T	X	8538712	8538712	C	T	ANOS1	c.890G>A	NM_000216.4	NP_000207.2:p.(Arg297Gln)	NC_000023.10:g.8538712C>T	(Likely) benign	1 lab	4710be4243
17:73897977 MRPL38 C>T	17	73897977	73897977	C	T	MRPL38	c.407G>A	NM_032478.4	NP_115867.2:p.(Arg136Gln)	NC_000017.10:g.73897977C>T	VUS	1 lab	4711821106
8:6302673 MCPH1 C>T	8	6302673	6302673	C	T	MCPH1	c.1430C>T	NM_024596.5	NP_078872.3:p.(Thr477Ile)	NC_000008.10:g.6302673C>T	(Likely) benign	1 lab	471472149c
9:135946935 CEL GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACC>G	9	135946935	135947017	GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACC	G	CEL	c.2063_2128del	NM_001807.6	NP_001798.3:p.(Gly688_Ser709del)	NC_000009.11:g.135946952_135947017del	(Likely) benign	1 lab	471508815c
5:153144158 GRIA1 C>T	5	153144158	153144158	C	T	GRIA1	c.1988C>T	NM_000827.4	NP_000818.2:p.(Thr663Met)	NC_000005.9:g.153144158C>T	VUS	1 lab	4717402030
19:42838302 MEGF8 G>C	19	42838302	42838302	G	C	MEGF8	c.495G>C	NM_001271938.2	NP_001258867.1:p.(Gly165=)	NC_000019.9:g.42838302G>C	(Likely) benign	1 lab	471751e241
19:49519905 LHB A>G	19	49519905	49519905	A	G	LHB	c.82T>C	NM_000894.2	NP_000885.1:p.(Trp28Arg)	NC_000019.9:g.49519905A>G	(Likely) benign	1 lab	1f84c491c4
14:24567817 PCK2 G>T	14	24567817	24567817	G	T	PCK2	c.594G>T	NM_004563.4	NP_004554.3:p.(Val198=)	NC_000014.8:g.24567817G>T	(Likely) benign	1 lab	1ee722d648
14:91763667 CCDC88C C>G	14	91763667	91763667	C	G	CCDC88C	c.3948G>C	NM_001080414.4	NP_001073883.2:p.(Lys1316Asn)	NC_000014.8:g.91763667C>G	VUS	1 lab	47191872c9
2:172291094 DCAF17 C>T	2	172291094	172291094	C	T	DCAF17	c.7C>T	NM_025000.4	NP_079276.2:p.(Pro3Ser)	NC_000002.11:g.172291094C>T	(Likely) benign	1 lab	471aa1c154
X:85302499 CHM A>G	X	85302499	85302499	A	G	CHM	c.38T>C	NM_000390.4	NP_000381.1:p.(Val13Ala)	NC_000023.10:g.85302499A>G	VUS	1 lab	471affe7ab
1:154215785 UBAP2L G>A	1	154215785	154215785	G	A	UBAP2L	c.842+7G>A	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154215785G>A	(Likely) benign	1 lab	471cb5e1e4
10:129904448 MKI67 C>T	10	129904448	129904448	C	T	MKI67	c.5656G>A	NM_002417.5	NP_002408.3:p.(Val1886Ile)	NC_000010.10:g.129904448C>T	VUS	1 lab	471d51e4e2
1:158632491 SPTA1 C>T	1	158632491	158632491	C	T	SPTA1	c.2464+1G>A	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158632491C>T	(Likely) pathogenic	1 lab	471f2e18e7
X:118971841 UPF3B T>C	X	118971841	118971841	T	C	UPF3B	c.1181A>G	NM_080632.3	NP_542199.1:p.(Lys394Arg)	NC_000023.10:g.118971841T>C	(Likely) benign	1 lab	471f59cae9
4:79367934 FRAS1 G>A	4	79367934	79367934	G	A	FRAS1	c.5910G>A	NM_025074.7	NP_079350.5:p.(Leu1970=)	NC_000004.11:g.79367934G>A	(Likely) benign	1 lab	471f5c86c1
3:38739948 SCN10A C>T	3	38739948	38739948	C	T	SCN10A	c.4763G>A	NM_006514.4	NP_006505.4:p.(Arg1588Gln)	NC_000003.11:g.38739948C>T	VUS	1 lab	471f6ff278
10:123846190 TACC2 T>G	10	123846190	123846190	T	G	TACC2	c.4175T>G	NM_206862.4	NP_996744.4:p.(Val1392Gly)	NC_000010.10:g.123846190T>G	(Likely) benign	1 lab	471fbabee0
16:30680531 FBRS C>CGCT	16	30680531	30680542	C	CGCT	FBRS	c.2517_2519dup	NM_001105079.3	NP_001098549.2:p.(Ala849dup)	NC_000016.9:g.30680540_30680542dup	VUS	1 lab	472061095b
17:73488815 TMEM94 C>T	17	73488815	73488815	C	T	TMEM94	c.1857C>T	NM_014738.6	NP_055553.3:p.(Ser619=)	NC_000017.10:g.73488815C>T	(Likely) benign	1 lab	47210683e1
3:160037658 IFT80 G>A	3	160037658	160037658	G	A	IFT80	c.847C>T	NM_020800.3	NP_065851.1:p.(Gln283Ter)	NC_000003.11:g.160037658G>A	(Likely) pathogenic	1 lab	47210c1691
19:18900938 COMP G>T	19	18900938	18900938	G	T	COMP	c.218-15C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900938G>T	(Likely) benign	1 lab	4722029750
2:179456729 TTN G>T	2	179456729	179456729	G	T	TTN	c.59902C>A	NM_001267550.2	NP_001254479.2:p.(Pro19968Thr)	NC_000002.11:g.179456729G>T	VUS	1 lab	47239b3953
1:36941179 CSF3R G>A	1	36941179	36941179	G	A	CSF3R	c.160C>T	NM_000760.4	NP_000751.1:p.(His54Tyr)	NC_000001.10:g.36941179G>A	(Likely) benign	1 lab	47240455d0
15:68503664 CLN6 A>G	15	68503664	68503664	A	G	CLN6	c.487-8T>C	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68503664A>G	(Likely) benign	1 lab	1f86d948e2
22:18209496 BCL2L13 A>G	22	18209496	18209496	A	G	BCL2L13	c.654A>G	NM_015367.4	NP_056182.2:p.(Ala218=)	NC_000022.10:g.18209496A>G	VUS	1 lab	4724914cf8
11:17803220 KCNC1 T>A	11	17803220	17803220	T	A	KCNC1	c.1697T>A	NM_001112741.2	NP_001106212.1:p.(Leu566His)	NC_000011.9:g.17803220T>A	VUS	1 lab	47250ca1be
14:31792968 HEATR5A T>C	14	31792968	31792968	T	C	HEATR5A	c.3590A>G	NM_015473.4	NP_056288.2:p.(Glu1197Gly)	NC_000014.8:g.31792968T>C	VUS	1 lab	472574319c
1:26138280 SELENON G>T	1	26138280	26138280	G	T	SELENON	c.1089G>T	NM_206926.2	NP_996809.1:p.(Gln363His)	NC_000001.10:g.26138280G>T	VUS	1 lab	472664af56
5:79952308 MSH3 C>A	5	79952308	79952308	C	A	MSH3	c.316C>A	NM_002439.5	NP_002430.3:p.(Gln106Lys)	NC_000005.9:g.79952308C>A	VUS	1 lab	4727b06248
2:54117291 PSME4 T>C	2	54117291	54117291	T	C	PSME4	c.4246A>G	NM_014614.3	NP_055429.2:p.(Ile1416Val)	NC_000002.11:g.54117291T>C	(Likely) benign	1 lab	4727c22d90
14:96152921 TCL1B C>A	14	96152921	96152921	C	A	TCL1B	c.117C>A	NM_004918.4	NP_004909.1:p.(Phe39Leu)	NC_000014.8:g.96152921C>A	(Likely) benign	1 lab	4727ebe881
19:50920410 POLD1 C>T	19	50920410	50920410	C	T	POLD1	c.3121-19C>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50920410C>T	(Likely) benign	1 lab	4728dbf354
10:27035275 PDSS1 AAC>A	10	27035275	27035278	AAC	A	PDSS1	c.1123_1124del	NM_014317.5	NP_055132.2:p.(Gln375AsnfsTer11)	NC_000010.10:g.27035277_27035278del	VUS	1 lab	472932e0c7
19:7125460 INSR T>G	19	7125460	7125460	T	G	INSR	c.3092A>C	NM_000208.4	NP_000199.2:p.(Gln1031Pro)	NC_000019.9:g.7125460T>G	VUS	1 lab	472aa521f5
2:29004601 PPP1CB C>T	2	29004601	29004601	C	T	PPP1CB	c.416-3C>T	NM_002709.3	NP_002700.1:p.?	NC_000002.11:g.29004601C>T	(Likely) benign	1 lab	472be802c5
17:48243504 SGCA C>T	17	48243504	48243504	C	T	SGCA	c.37+66C>T	NM_000023.4	NP_000014.1:p.?	NC_000017.10:g.48243504C>T	(Likely) benign	1 lab	1ee7586871
7:147336338 CNTNAP2 G>A	7	147336338	147336338	G	A	CNTNAP2	c.2038G>A	NM_014141.6	NP_054860.1:p.(Glu680Lys)	NC_000007.13:g.147336338G>A	VUS	1 lab	472da38e19
X:68890050 EDA TCAGGAC>T	X	68890050	68890056	TCAGGAC	T	EDA	c.396+53503_396+53508del	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.68890051_68890056del	(Likely) benign	1 lab	472e817276
16:5125385 ALG1 C>G	16	5125385	5125385	C	G	ALG1	c.391-4C>G	NM_019109.5	NP_061982.3:p.?	NC_000016.9:g.5125385C>G	VUS	1 lab	472fc2ffa8
19:5135356 KDM4B C>A	19	5135356	5135356	C	A	KDM4B	c.2092C>A	NM_015015.3	NP_055830.1:p.(Gln698Lys)	NC_000019.9:g.5135356C>A	(Likely) benign	1 lab	4730a1b57c
7:142836631 PIP G>A	7	142836631	142836631	G	A	PIP	c.337G>A	NM_002652.3	NP_002643.1:p.(Val113Ile)	NC_000007.13:g.142836631G>A	(Likely) benign	1 lab	473318f9fa
20:62326484 RTEL1 G>A	20	62326484	62326484	G	A	RTEL1	c.3409G>A	NM_001283009.2	NP_001269938.1:p.(Gly1137Ser)	NC_000020.10:g.62326484G>A	VUS	1 lab	47336fbde6
19:39010081 RYR1 G>A	19	39010081	39010081	G	A	RYR1	c.10246G>A	NM_000540.3	NP_000531.2:p.(Val3416Met)	NC_000019.9:g.39010081G>A	VUS	1 lab	473372fb98
18:44560594 KATNAL2 C>T	18	44560594	44560594	C	T	KATNAL2	c.52-12234C>T	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44560594C>T	(Likely) benign	1 lab	473457dffa
15:48812962 FBN1 G>T	15	48812962	48812962	G	T	FBN1	c.1041C>A	NM_000138.5	NP_000129.3:p.(Asn347Lys)	NC_000015.9:g.48812962G>T	VUS	1 lab	4734586b23
3:136046554 PCCB A>G	3	136046554	136046554	A	G	PCCB	c.1378A>G	NM_000532.5	NP_000523.2:p.(Ile460Val)	NC_000003.11:g.136046554A>G	VUS	1 lab	4734aff24b
12:49425674 KMT2D C>T	12	49425674	49425674	C	T	KMT2D	c.12814G>A	NM_003482.4	NP_003473.3:p.(Gly4272Ser)	NC_000012.11:g.49425674C>T	VUS	1 lab	4736b56599
1:979784 AGRN G>A	1	979784	979784	G	A	AGRN	c.2219G>A	NM_198576.4	NP_940978.2:p.(Arg740Gln)	NC_000001.10:g.979784G>A	(Likely) benign	1 lab	4737713668
5:171765429 SH3PXD2B C>T	5	171765429	171765429	C	T	SH3PXD2B	c.2680G>A	NM_001017995.3	NP_001017995.1:p.(Gly894Arg)	NC_000005.9:g.171765429C>T	VUS	1 lab	473a64e3f8
11:639518 DRD4 TCA>T	11	639518	639520	TCA	T	DRD4	c.372_373del	NM_000797.4	NP_000788.2:p.(Phe124LeufsTer325)	NC_000011.9:g.639519_639520del	VUS	1 lab	473a904aab
1:237049642 MTR G>A	1	237049642	237049642	G	A	MTR	c.2826G>A	NM_000254.3	NP_000245.2:p.(Met942Ile)	NC_000001.10:g.237049642G>A	VUS	1 lab	473c3283f1
11:121323267 SORL1 C>T	11	121323267	121323267	C	T	SORL1	c.227C>T	NM_003105.6	NP_003096.2:p.(Pro76Leu)	NC_000011.9:g.121323267C>T	(Likely) benign	1 lab	473de3ba58
16:89346082 ANKRD11 G>A	16	89346082	89346082	G	A	ANKRD11	c.6868C>T	NM_013275.6	NP_037407.4:p.(Pro2290Ser)	NC_000016.9:g.89346082G>A	(Likely) benign	1 lab	473debe243
17:6377871 PITPNM3 G>A	17	6377871	6377871	G	A	PITPNM3	c.1139C>T	NM_031220.4	NP_112497.2:p.(Pro380Leu)	NC_000017.10:g.6377871G>A	(Likely) benign	1 lab	473f010674
10:64564823 ADO C>T	10	64564823	64564823	C	T	ADO	c.4C>T	NM_032804.6	NP_116193.2:p.(Pro2Ser)	NC_000010.10:g.64564823C>T	VUS	1 lab	47407396a9
5:38484890 LIFR G>A	5	38484890	38484890	G	A	LIFR	c.2578C>T	NM_001127671.2	NP_001121143.1:p.(Arg860Trp)	NC_000005.9:g.38484890G>A	(Likely) benign	1 lab	4740a038ee
X:8434354 VCX3B T>C	X	8434354	8434354	T	C	VCX3B	c.671T>C	NM_001001888.4	NP_001001888.3:p.(Leu224Pro)	NC_000023.10:g.8434354T>C	(Likely) benign	1 lab	47413aeb01
15:30696699 GOLGA8R G>C	15	30696699	30696699	G	C	GOLGA8R	c.1402C>G	NM_001282484.1	NP_001269413.1:p.(Leu468Val)	NC_000015.9:g.30696699G>C	(Likely) benign	1 lab	4741400f24
1:235938387 LYST C>A	1	235938387	235938387	C	A	LYST	c.5461-1G>T	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235938387C>A	(Likely) benign	1 lab	4741484396
1:116206792 VANGL1 G>A	1	116206792	116206792	G	A	VANGL1	c.715G>A	NM_138959.3	NP_620409.1:p.(Val239Ile)	NC_000001.10:g.116206792G>A	VUS	1 lab	4743725e8c
2:97877440 ANKRD36 T>C	2	97877440	97877440	T	C	ANKRD36	c.3431T>C	NM_001354587.1	NP_001341516.1:p.(Met1144Thr)	NC_000002.11:g.97877440T>C	VUS	1 lab	474421bba6
9:5713998 RIC1 C>G	9	5713998	5713998	C	G	RIC1	c.435C>G	NM_020829.4	NP_065880.2:p.(Ile145Met)	NC_000009.11:g.5713998C>G	VUS	1 lab	4744b86a36
14:20850500 TEP1 G>A	14	20850500	20850500	G	A	TEP1	c.4156C>T	NM_007110.5	NP_009041.2:p.(Arg1386Trp)	NC_000014.8:g.20850500G>A	(Likely) benign	1 lab	4745b42633
4:3487361 DOK7 T>C	4	3487361	3487361	T	C	DOK7	c.628T>C	NM_173660.5	NP_775931.3:p.(Phe210Leu)	NC_000004.11:g.3487361T>C	VUS	1 lab	474631a495
12:7053018 RNU7-1 C>T	12	7053018	7053018	C	T	RNU7-1	n.40C>T	NR_023317.1		NC_000012.11:g.7053018C>T	VUS	1 lab	1ee8ce07f0
15:90210972 PLIN1 C>T	15	90210972	90210972	C	T	PLIN1	c.824G>A	NM_002666.5	NP_002657.3:p.(Arg275Gln)	NC_000015.9:g.90210972C>T	(Likely) benign	1 lab	474747e15c
20:31024624 ASXL1 A>G	20	31024624	31024624	A	G	ASXL1	c.4109A>G	NM_015338.6	NP_056153.2:p.(Glu1370Gly)	NC_000020.10:g.31024624A>G	VUS	1 lab	474b61510b
7:2953026 CARD11 C>T	7	2953026	2953026	C	T	CARD11	c.2914G>A	NM_032415.7	NP_115791.3:p.(Glu972Lys)	NC_000007.13:g.2953026C>T	VUS	1 lab	474b8f0176
17:39726475 KRT9 G>GAA	17	39726475	39726484	G	GAA	KRT9	c.643-5_643-4dup	NM_000226.4	NP_000217.2:p.?	NC_000017.10:g.39726483_39726484dup	VUS	1 lab	474c94a3b8
1:223976835 TP53BP2 A>G	1	223976835	223976835	A	G	TP53BP2	c.3038T>C	NM_001031685.3	NP_001026855.2:p.(Val1013Ala)	NC_000001.10:g.223976835A>G	(Likely) benign	1 lab	474d434e98
20:50407497 SALL4 G>C	20	50407497	50407497	G	C	SALL4	c.1525C>G	NM_020436.5	NP_065169.1:p.(Pro509Ala)	NC_000020.10:g.50407497G>C	VUS	1 lab	1eeb597692
14:103470357 CDC42BPB C>T	14	103470357	103470357	C	T	CDC42BPB	c.355G>A	NM_006035.4	NP_006026.3:p.(Ala119Thr)	NC_000014.8:g.103470357C>T	VUS	1 lab	475247aa35
6:135287462 HBS1L A>C	6	135287462	135287462	A	C	HBS1L	c.2043+5T>G	NM_006620.4	NP_006611.1:p.?	NC_000006.11:g.135287462A>C	(Likely) benign	1 lab	4754200cf1
8:86389509 CA2 G>T	8	86389509	86389509	G	T	CA2	c.663+5G>T	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86389509G>T	VUS	1 lab	475747f1a7
15:31294375 TRPM1 T>C	15	31294375	31294375	T	C	TRPM1	c.4528A>G	NM_001252024.2	NP_001238953.1:p.(Ile1510Val)	NC_000015.9:g.31294375T>C	(Likely) benign	1 lab	475762e8d7
16:2164852 PKD1 G>A	16	2164852	2164852	G	A	PKD1	c.2172C>T	NM_001009944.3	NP_001009944.3:p.(Gly724=)	NC_000016.9:g.2164852G>A	VUS	1 lab	475bd7558e
8:145007375 PLEC T>C	8	145007375	145007375	T	C	PLEC	c.1408A>G	NM_201384.3	NP_958786.1:p.(Met470Val)	NC_000008.10:g.145007375T>C	VUS	1 lab	475e74e690
6:51484164 PKHD1 G>C	6	51484164	51484164	G	C	PKHD1	c.11940C>G	NM_138694.4	NP_619639.3:p.(His3980Gln)	NC_000006.11:g.51484164G>C	(Likely) benign	1 lab	47614194ee
X:16142093 GRPR G>C	X	16142093	16142093	G	C	GRPR	c.17G>C	NM_005314.3	NP_005305.1:p.(Cys6Ser)	NC_000023.10:g.16142093G>C	(Likely) benign	1 lab	4761cbdc87
6:47544734 CD2AP C>A	6	47544734	47544734	C	A	CD2AP	c.809-11C>A	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47544734C>A	(Likely) benign	1 lab	1f8b085c04
19:7141772 INSR G>A	19	7141772	7141772	G	A	INSR	c.2598C>T	NM_000208.4	NP_000199.2:p.(Val866=)	NC_000019.9:g.7141772G>A	(Likely) benign	1 lab	4764f2dd0b
1:225607469 LBR T>A	1	225607469	225607469	T	A	LBR	c.398A>T	NM_002296.4	NP_002287.2:p.(Asn133Ile)	NC_000001.10:g.225607469T>A	VUS	1 lab	476715bc8c
15:41688875 NDUFAF1 C>G	15	41688875	41688875	C	G	NDUFAF1	c.383G>C	NM_016013.4	NP_057097.2:p.(Arg128Pro)	NC_000015.9:g.41688875C>G	VUS	1 lab	4767270d2f
15:89398815 ACAN T>G	15	89398815	89398815	T	G	ACAN	c.2999T>G	NM_001369268.1	NP_001356197.1:p.(Val1000Gly)	NC_000015.9:g.89398815T>G	VUS	1 lab	4767fc64fe
9:4286304 GLIS3 G>A	9	4286304	4286304	G	A	GLIS3	c.122C>T	NM_001042413.2	NP_001035878.1:p.(Ser41Leu)	NC_000009.11:g.4286304G>A	(Likely) benign	1 lab	476a599923
1:197093250 ASPM T>C	1	197093250	197093250	T	C	ASPM	c.3380A>G	NM_018136.5	NP_060606.3:p.(Tyr1127Cys)	NC_000001.10:g.197093250T>C	VUS	1 lab	476b0c129c
14:47311154 MDGA2 T>G	14	47311154	47311154	T	G	MDGA2	c.3058A>C	NM_001113498.3	NP_001106970.4:p.(Ile1020Leu)	NC_000014.8:g.47311154T>G	VUS	1 lab	476b261862
3:64532433 ADAMTS9 C>T	3	64532433	64532433	C	T	ADAMTS9	c.5064+1G>A	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64532433C>T	VUS	1 lab	476b5c2b3d
19:14877148 ADGRE2 G>T	19	14877148	14877148	G	T	ADGRE2	c.533C>A	NM_013447.4	NP_038475.2:p.(Thr178Asn)	NC_000019.9:g.14877148G>T	(Likely) benign	1 lab	1f90a2aee9
22:46805768 CELSR1 G>A	22	46805768	46805768	G	A	CELSR1	c.4943C>T	NM_001378328.1	NP_001365257.1:p.(Ala1648Val)	NC_000022.10:g.46805768G>A	VUS	1 lab	477159da3b
9:32467879 RIGI C>T	9	32467879	32467879	C	T	RIGI	c.2066G>A	NM_014314.4	NP_055129.2:p.(Gly689Glu)	NC_000009.11:g.32467879C>T	VUS	1 lab	47717fcf96
15:78393434 SH2D7 C>T	15	78393434	78393434	C	T	SH2D7	c.839C>T	NM_001101404.2	NP_001094874.1:p.(Ala280Val)	NC_000015.9:g.78393434C>T	(Likely) benign	1 lab	47722b38c7
X:135763042 ARHGEF6 C>T	X	135763042	135763042	C	T	ARHGEF6	c.1559-7G>A	NM_004840.3	NP_004831.1:p.?	NC_000023.10:g.135763042C>T	(Likely) benign	1 lab	47752ef332
22:41574238 EP300 A>C	22	41574238	41574238	A	C	EP300	c.6523A>C	NM_001429.4	NP_001420.2:p.(Met2175Leu)	NC_000022.10:g.41574238A>C	(Likely) benign	1 lab	4775d63dd1
2:176958118 HOXD13 A>G	2	176958118	176958118	A	G	HOXD13	c.500A>G	NM_000523.4	NP_000514.2:p.(Tyr167Cys)	NC_000002.11:g.176958118A>G	VUS	1 lab	4775e58f97
2:47641483 MSH2 G>T	2	47641483	47641483	G	T	MSH2	c.868G>T	NM_000251.3	NP_000242.1:p.(Glu290Ter)	NC_000002.11:g.47641483G>T	(Likely) pathogenic	1 lab	1eed91e5b7
X:15497935 PIR G>T	X	15497935	15497935	G	T	PIR	c.106C>A	NM_001018109.3	NP_001018119.1:p.(Leu36Met)	NC_000023.10:g.15497935G>T	(Likely) benign	1 lab	4787d5d501
16:3781330 CREBBP A>C	16	3781330	3781330	A	C	CREBBP	c.5035T>G	NM_004380.3	NP_004371.2:p.(Ser1679Ala)	NC_000016.9:g.3781330A>C	VUS	1 lab	4778eb61c5
19:1619323 TCF3 C>T	19	1619323	1619323	C	T	TCF3	c.1318G>A	NM_003200.5	NP_003191.1:p.(Ala440Thr)	NC_000019.9:g.1619323C>T	(Likely) benign	1 lab	1f923ee531
16:30991383 SETD1A A>G	16	30991383	30991383	A	G	SETD1A	c.4276A>G	NM_014712.3	NP_055527.1:p.(Ile1426Val)	NC_000016.9:g.30991383A>G	(Likely) benign	1 lab	477a6d4120
7:131195094 PODXL GAAAAAA>G	7	131195094	131195121	GAAAAAA	G	PODXL	c.707-10_707-5del	NM_001018111.3	NP_001018121.1:p.?	NC_000007.13:g.131195116_131195121del	(Likely) benign	1 lab	1f98a6ee3f
13:111092163 COL4A2 G>C	13	111092163	111092163	G	C	COL4A2	c.940G>C	NM_001846.4	NP_001837.2:p.(Gly314Arg)	NC_000013.10:g.111092163G>C	VUS	1 lab	477bc6dcbe
2:230723902 TRIP12 AC>A	2	230723902	230723905	AC	A	TRIP12	c.612del	NM_001348323.3	NP_001335252.1:p.(Ser205LeufsTer47)	NC_000002.11:g.230723905del	(Likely) pathogenic	1 lab	477d52f8f6
16:2157997 PKD1 G>A	16	2157997	2157997	G	A	PKD1	c.6952C>T	NM_001009944.3	NP_001009944.3:p.(Arg2318Cys)	NC_000016.9:g.2157997G>A	VUS	1 lab	478114e8bd
3:39450150 RPSA C>T	3	39450150	39450150	C	T	RPSA	c.187C>T	NM_002295.6	NP_002286.2:p.(Arg63Cys)	NC_000003.11:g.39450150C>T	VUS	1 lab	4783a21cfc
1:27429225 SLC9A1 G>A	1	27429225	27429225	G	A	SLC9A1	c.1585C>T	NM_003047.5	NP_003038.2:p.(His529Tyr)	NC_000001.10:g.27429225G>A	VUS	1 lab	4783a69d59
6:51777353 PKHD1 A>G	6	51777353	51777353	A	G	PKHD1	c.6143T>C	NM_138694.4	NP_619639.3:p.(Val2048Ala)	NC_000006.11:g.51777353A>G	VUS	1 lab	4783cd3917
15:89402266 ACAN C>T	15	89402266	89402266	C	T	ACAN	c.6450C>T	NM_001369268.1	NP_001356197.1:p.(Ser2150=)	NC_000015.9:g.89402266C>T	(Likely) benign	1 lab	4783ea4b10
X:122774478 THOC2 G>A	X	122774478	122774478	G	A	THOC2	c.1662-5C>T	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122774478G>A	(Likely) benign	1 lab	1eee20cd58
2:240056311 HDAC4 C>T	2	240056311	240056311	C	T	HDAC4	c.1007G>A	NM_001378414.1	NP_001365343.1:p.(Arg336Gln)	NC_000002.11:g.240056311C>T	VUS	1 lab	478568d1eb
19:7794939 CLEC4G G>C	19	7794939	7794939	G	C	CLEC4G	c.593C>G	NM_198492.4	NP_940894.1:p.(Ala198Gly)	NC_000019.9:g.7794939G>C	(Likely) benign	1 lab	478854b68f
19:18894001 COMP A>G	19	18894001	18894001	A	G	COMP	c.2090T>C	NM_000095.3	NP_000086.2:p.(Val697Ala)	NC_000019.9:g.18894001A>G	VUS	1 lab	4788b0584c
3:121526152 IQCB1 TA>T	3	121526152	121526161	TA	T	IQCB1	c.587+38del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121526161del	(Likely) benign	1 lab	1f9940dcea
9:95025340 IARS1 G>GA	9	95025340	95025348	G	GA	IARS1	c.1701-4dup	NM_002161.6	NP_002152.2:p.?	NC_000009.11:g.95025348dup	(Likely) benign	1 lab	4789e65a19
9:100840483 NANS A>G	9	100840483	100840483	A	G	NANS	c.457A>G	NM_018946.4	NP_061819.2:p.(Met153Val)	NC_000009.11:g.100840483A>G	VUS	1 lab	478b40fd84
21:47423412 COL6A1 C>T	21	47423412	47423412	C	T	COL6A1	c.2572C>T	NM_001848.3	NP_001839.2:p.(Arg858Cys)	NC_000021.8:g.47423412C>T	VUS	1 lab	478c169ae9
16:15841926 MYH11 C>T	16	15841926	15841926	C	T	MYH11	c.2158G>A	NM_002474.3	NP_002465.1:p.(Val720Ile)	NC_000016.9:g.15841926C>T	VUS	1 lab	478c510841
16:1270787 CACNA1H C>A	16	1270787	1270787	C	A	CACNA1H	c.6855C>A	NM_021098.3	NP_066921.2:p.(Ser2285Arg)	NC_000016.9:g.1270787C>A	VUS	1 lab	478d5d57e0
19:13325043 CACNA1A G>A	19	13325043	13325043	G	A	CACNA1A	c.5940+4C>T	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13325043G>A	(Likely) benign	1 lab	478eab481d
11:68183952 LRP5 A>T	11	68183952	68183952	A	T	LRP5	c.2984A>T	NM_002335.4	NP_002326.2:p.(Asp995Val)	NC_000011.9:g.68183952A>T	VUS	1 lab	478f2b0ba3
3:37090029 MLH1 C>A	3	37090029	37090029	C	A	MLH1	c.1918C>A	NM_000249.4	NP_000240.1:p.(Pro640Thr)	NC_000003.11:g.37090029C>A	VUS	1 lab	478fd2ae69
9:139286443 SNAPC4 G>A	9	139286443	139286443	G	A	SNAPC4	c.926C>T	NM_003086.4	NP_003077.2:p.(Ala309Val)	NC_000009.11:g.139286443G>A	(Likely) benign	1 lab	47931cf9fe
20:61467842 COL9A3 A>G	20	61467842	61467842	A	G	COL9A3	c.1561A>G	NM_001853.4	NP_001844.3:p.(Ser521Gly)	NC_000020.10:g.61467842A>G	(Likely) benign	1 lab	47935a8ac4
11:134027968 NCAPD3 G>A	11	134027968	134027968	G	A	NCAPD3	c.4035-6C>T	NM_015261.3	NP_056076.1:p.?	NC_000011.9:g.134027968G>A	(Likely) benign	1 lab	479370ac49
1:95501402 ALG14 C>A	1	95501402	95501402	C	A	ALG14	c.289-8586G>T	NM_144988.4	NP_659425.1:p.?	NC_000001.10:g.95501402C>A	VUS	1 lab	479442e3ff
4:88929081 PKD2 G>C	4	88929081	88929081	G	C	PKD2	c.196G>C	NM_000297.4	NP_000288.1:p.(Asp66His)	NC_000004.11:g.88929081G>C	VUS	1 lab	4794e13a63
2:170060531 LRP2 C>T	2	170060531	170060531	C	T	LRP2	c.7966G>A	NM_004525.3	NP_004516.2:p.(Glu2656Lys)	NC_000002.11:g.170060531C>T	VUS	1 lab	4795242705
8:100127961 VPS13B A>G	8	100127961	100127961	A	G	VPS13B	c.796A>G	NM_152564.5	NP_689777.3:p.(Ile266Val)	NC_000008.10:g.100127961A>G	VUS	1 lab	47954772b8
2:55573408 CCDC88A A>C	2	55573408	55573408	A	C	CCDC88A	c.944T>G	NM_001365480.1	NP_001352409.1:p.(Leu315Arg)	NC_000002.11:g.55573408A>C	VUS	1 lab	479587151e
12:23998924 SOX5 C>A	12	23998924	23998924	C	A	SOX5	c.474G>T	NM_006940.6	NP_008871.3:p.(Glu158Asp)	NC_000012.11:g.23998924C>A	VUS	1 lab	479815080f
2:232325414 NCL TTCATCA>T	2	232325414	232325428	TTCATCA	T	NCL	c.771_776del	NM_005381.3	NP_005372.2:p.(Asp257_Asp258del)	NC_000002.11:g.232325423_232325428del	(Likely) benign	1 lab	479939c2e9
1:201177637 IGFN1 T>C	1	201177637	201177637	T	C	IGFN1	c.3616T>C	NM_001164586.2	NP_001158058.1:p.(Tyr1206His)	NC_000001.10:g.201177637T>C	(Likely) benign	1 lab	4799fdd7b3
6:146719923 GRM1 T>C	6	146719923	146719923	T	C	GRM1	c.1748T>C	NM_001278064.2	NP_001264993.1:p.(Val583Ala)	NC_000006.11:g.146719923T>C	VUS	1 lab	479a6c1632
8:1998929 MYOM2 G>A	8	1998929	1998929	G	A	MYOM2	c.49G>A	NM_003970.4	NP_003961.3:p.(Asp17Asn)	NC_000008.10:g.1998929G>A	VUS	1 lab	479bb71fef
15:99454554 IGF1R C>T	15	99454554	99454554	C	T	IGF1R	c.1473C>T	NM_000875.5	NP_000866.1:p.(Asp491=)	NC_000015.9:g.99454554C>T	(Likely) benign	1 lab	479bf68fd7
10:79613285 DLG5 T>C	10	79613285	79613285	T	C	DLG5	c.691A>G	NM_004747.4	NP_004738.3:p.(Ser231Gly)	NC_000010.10:g.79613285T>C	VUS	1 lab	479c43e6cf
2:202412322 CATSPERT A>G	2	202412322	202412322	A	G	CATSPERT	c.989T>C	NM_001168221.2	NP_001161693.1:p.(Met330Thr)	NC_000002.11:g.202412322A>G	VUS	1 lab	479d64b501
7:107799996 NRCAM G>A	7	107799996	107799996	G	A	NRCAM	c.3599-10C>T	NM_001037132.4	NP_001032209.1:p.?	NC_000007.13:g.107799996G>A	(Likely) benign	1 lab	479f8574df
11:17429962 ABCC8 G>C	11	17429962	17429962	G	C	ABCC8	c.2797C>G	NM_000352.6	NP_000343.2:p.(Arg933Gly)	NC_000011.9:g.17429962G>C	VUS	1 lab	479fc6c091
3:56658614 TASOR G>A	3	56658614	56658614	G	A	TASOR	c.4376C>T	NM_001365635.2	NP_001352564.1:p.(Ala1459Val)	NC_000003.11:g.56658614G>A	(Likely) benign	1 lab	47a0a28a14
5:179049405 HNRNPH1 T>G	5	179049405	179049405	T	G	HNRNPH1	c.97+633A>C	NM_001257293.2	NP_001244222.1:p.?	NC_000005.9:g.179049405T>G	(Likely) benign	1 lab	47a1e1c3ab
2:179635157 TTN C>T	2	179635157	179635157	C	T	TTN	c.8362G>A	NM_001267550.2	NP_001254479.2:p.(Ala2788Thr)	NC_000002.11:g.179635157C>T	(Likely) benign	1 lab	47a24c3f49
17:8000123 ALOXE3 C>T	17	8000123	8000123	C	T	ALOXE3	c.1958G>A	NM_021628.3	NP_067641.2:p.(Arg653Lys)	NC_000017.10:g.8000123C>T	VUS	1 lab	47a3a8b411
11:111963799 SDHD C>T	11	111963799	111963799	C	T	SDHD	c.315-1730C>T	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111963799C>T	(Likely) benign	1 lab	47a54b9cc1
5:112174916 APC G>A	5	112174916	112174916	G	A	APC	c.3625G>A	NM_000038.6	NP_000029.2:p.(Glu1209Lys)	NC_000005.9:g.112174916G>A	(Likely) benign	1 lab	47a573e3bd
1:237604767 RYR2 G>C	1	237604767	237604767	G	C	RYR2	c.1154G>C	NM_001035.3	NP_001026.2:p.(Gly385Ala)	NC_000001.10:g.237604767G>C	VUS	1 lab	47a680469e
11:64534418 SF1 C>T	11	64534418	64534418	C	T	SF1	c.1536G>A	NM_004630.4	NP_004621.2:p.(Pro512=)	NC_000011.9:g.64534418C>T	VUS	1 lab	47a8238f04
17:66244212 AMZ2 G>C	17	66244212	66244212	G	C	AMZ2	c.-635G>C	NM_016627.5	NP_057711.3:p.?	NC_000017.10:g.66244212G>C	VUS	1 lab	47a8794f06
5:90105992 ADGRV1 C>T	5	90105992	90105992	C	T	ADGRV1	c.14973-58C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90105992C>T	(Likely) benign	1 lab	1f9f268398
8:145669264 TONSL C>T	8	145669264	145669264	C	T	TONSL	c.264+1G>A	NM_013432.5	NP_038460.4:p.?	NC_000008.10:g.145669264C>T	VUS	1 lab	47ab76e2c6
15:85405908 ALPK3 G>C	15	85405908	85405908	G	C	ALPK3	c.4172G>C	NM_020778.5	NP_065829.4:p.(Gly1391Ala)	NC_000015.9:g.85405908G>C	VUS	1 lab	1eee86aa6d
1:27875608 AHDC1 T>C	1	27875608	27875608	T	C	AHDC1	c.3019A>G	NM_001371928.1	NP_001358857.1:p.(Ser1007Gly)	NC_000001.10:g.27875608T>C	(Likely) pathogenic	1 lab	47aea212a8
10:76602877 KAT6B T>G	10	76602877	76602877	T	G	KAT6B	c.262T>G	NM_012330.4	NP_036462.2:p.(Phe88Val)	NC_000010.10:g.76602877T>G	(Likely) benign	1 lab	47af150a85
11:116728913 SIK3 G>A	11	116728913	116728913	G	A	SIK3	c.3268C>T	NM_001366686.3	NP_001353615.1:p.(Arg1090Cys)	NC_000011.9:g.116728913G>A	(Likely) benign	1 lab	47b00f26c0
7:2646805 IQCE C>G	7	2646805	2646805	C	G	IQCE	c.1913C>G	NM_152558.5	NP_689771.3:p.(Ser638Trp)	NC_000007.13:g.2646805C>G	(Likely) benign	1 lab	47b07e72b7
19:49674985 TRPM4 C>T	19	49674985	49674985	C	T	TRPM4	c.1009C>T	NM_017636.4	NP_060106.2:p.(Arg337Cys)	NC_000019.9:g.49674985C>T	VUS	1 lab	47b0990c53
13:51517536 RNASEH2B G>T	13	51517536	51517536	G	T	RNASEH2B	c.510+6G>T	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51517536G>T	(Likely) benign	1 lab	1fa1325d97
2:233697592 GIGYF2 G>A	2	233697592	233697592	G	A	GIGYF2	c.2555G>A	NM_001103146.3	NP_001096616.1:p.(Arg852Gln)	NC_000002.11:g.233697592G>A	(Likely) benign	1 lab	47b33eb3ee
1:145542273 ITGA10 C>T	1	145542273	145542273	C	T	ITGA10	c.3499C>T	NM_003637.5	NP_003628.2:p.(Gln1167Ter)	NC_000001.10:g.145542273C>T	(Likely) benign	1 lab	47b3a17689
15:83334050 AP3B2 T>A	15	83334050	83334050	T	A	AP3B2	c.1977A>T	NM_001278512.2	NP_001265441.1:p.(Glu659Asp)	NC_000015.9:g.83334050T>A	(Likely) benign	1 lab	47b4367b4a
5:130498278 HINT1 T>A	5	130498278	130498278	T	A	HINT1	c.203A>T	NM_005340.7	NP_005331.1:p.(Asp68Val)	NC_000005.9:g.130498278T>A	VUS	1 lab	47b667e9c7
14:51080067 ATL1 AAGGTTTGTTAGATATTT>A	14	51080067	51080088	AAGGTTTGTTAGATATTT	A	ATL1	c.723+3_723+19del	NM_015915.5	NP_056999.2:p.?	NC_000014.8:g.51080072_51080088del	(Likely) benign	1 lab	47bd45c630
3:15515774 COLQ G>A	3	15515774	15515774	G	A	COLQ	c.561C>T	NM_005677.4	NP_005668.2:p.(Ser187=)	NC_000003.11:g.15515774G>A	(Likely) benign	1 lab	47bdfe0e44
19:36581375 WDR62 A>C	19	36581375	36581375	A	C	WDR62	c.1987A>C	NM_001083961.2	NP_001077430.1:p.(Lys663Gln)	NC_000019.9:g.36581375A>C	(Likely) benign	1 lab	47be69fff0
X:16761817 SYAP1 A>T	X	16761817	16761817	A	T	SYAP1	c.436-7A>T	NM_032796.4	NP_116185.2:p.?	NC_000023.10:g.16761817A>T	(Likely) benign	1 lab	47c0c1899a
18:2705675 SMCHD1 T>TA	18	2705675	2705680	T	TA	SMCHD1	c.1843-12dup	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2705680dup	VUS	1 lab	47c11feea1
11:71169475 NADSYN1 G>A	11	71169475	71169475	G	A	NADSYN1	c.148G>A	NM_018161.5	NP_060631.2:p.(Gly50Ser)	NC_000011.9:g.71169475G>A	(Likely) benign	1 lab	47c1379875
6:146678807 GRM1 C>T	6	146678807	146678807	C	T	GRM1	c.1579C>T	NM_001278064.2	NP_001264993.1:p.(Pro527Ser)	NC_000006.11:g.146678807C>T	VUS	1 lab	47c14c6caf
2:15614352 NBAS A>G	2	15614352	15614352	A	G	NBAS	c.1438T>C	NM_015909.4	NP_056993.2:p.(Ser480Pro)	NC_000002.11:g.15614352A>G	VUS	1 lab	47c1910cc3
17:72440049 GPRC5C C>A	17	72440049	72440049	C	A	GPRC5C	c.1144C>A	NM_022036.4	NP_071319.3:p.(Pro382Thr)	NC_000017.10:g.72440049C>A	(Likely) benign	1 lab	47c1c0bd1d
11:71146634 DHCR7 GT>G	11	71146634	71146635	GT	G	DHCR7	c.1214del	NM_001360.3	NP_001351.2:p.(His405ProfsTer8)	NC_000011.9:g.71146635del	VUS	1 lab	47c2fd9f94
2:232209768 ARMC9 G>A	2	232209768	232209768	G	A	ARMC9	c.1960G>A	NM_001352754.2	NP_001339683.2:p.(Val654Ile)	NC_000002.11:g.232209768G>A	(Likely) benign	1 lab	47c3216b50
19:53741585 ZNF677 T>C	19	53741585	53741585	T	C	ZNF677	c.395A>G	NM_182609.4	NP_872415.1:p.(Lys132Arg)	NC_000019.9:g.53741585T>C	(Likely) benign	1 lab	47c35cff63
1:27877971 AHDC1 G>A	1	27877971	27877971	G	A	AHDC1	c.656C>T	NM_001371928.1	NP_001358857.1:p.(Thr219Met)	NC_000001.10:g.27877971G>A	(Likely) benign	1 lab	47c394ec9a
7:151859633 KMT2C A>G	7	151859633	151859633	A	G	KMT2C	c.11029T>C	NM_170606.3	NP_733751.2:p.(Cys3677Arg)	NC_000007.13:g.151859633A>G	(Likely) benign	1 lab	47c5be8235
4:6303491 WFS1 A>T	4	6303491	6303491	A	T	WFS1	c.1969A>T	NM_006005.3	NP_005996.2:p.(Met657Leu)	NC_000004.11:g.6303491A>T	(Likely) benign	1 lab	47c68a3f12
20:744659 SLC52A3 A>AG	20	744659	744660	A	AG	SLC52A3	c.568-13_568-12insC	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.744659_744660insG	(Likely) benign	1 lab	1fa1abe834
22:24456526 CABIN1 C>T	22	24456526	24456526	C	T	CABIN1	c.1539C>T	NM_012295.4	NP_036427.1:p.(Ser513=)	NC_000022.10:g.24456526C>T	(Likely) benign	1 lab	47c83b7c8e
7:44187276 GCK TCGTCCACCAGGCGGTCATACTC>T	7	44187276	44187299	TCGTCCACCAGGCGGTCATACTC	T	GCK	c.814_835del	NM_000162.5	NP_000153.1:p.(Glu272ArgfsTer15)	NC_000007.13:g.44187278_44187299del	(Likely) pathogenic	1 lab	47cab9717d
12:52201086 SCN8A C>G	12	52201086	52201086	C	G	SCN8A	c.5816C>G	NM_001330260.2	NP_001317189.1:p.(Pro1939Arg)	NC_000012.11:g.52201086C>G	(Likely) benign	1 lab	47cae1c602
2:179416556 TTN A>C	2	179416556	179416556	A	C	TTN	c.91071T>G	NM_001267550.2	NP_001254479.2:p.(Thr30357=)	NC_000002.11:g.179416556A>C	(Likely) benign	1 lab	1ef1dfa1a3
21:44839263 SIK1 C>T	21	44839263	44839263	C	T	SIK1	c.1215G>A	NM_173354.5	NP_775490.2:p.(Met405Ile)	NC_000021.8:g.44839263C>T	(Likely) benign	1 lab	47cb6d69a0
11:65655566 FIBP G>C	11	65655566	65655566	G	C	FIBP	c.123C>G	NM_004214.5	NP_004205.2:p.(Ile41Met)	NC_000011.9:g.65655566G>C	(Likely) benign	1 lab	47cbc6b95b
15:57526238 TCF12 C>T	15	57526238	57526238	C	T	TCF12	c.971-3C>T	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57526238C>T	(Likely) benign	1 lab	47cc3af61f
18:56936477 RAX G>A	18	56936477	56936477	G	A	RAX	c.800C>T	NM_013435.3	NP_038463.2:p.(Ala267Val)	NC_000018.9:g.56936477G>A	(Likely) benign	1 lab	47cc7a06f9
11:71175179 NADSYN1 C>T	11	71175179	71175179	C	T	NADSYN1	c.398C>T	NM_018161.5	NP_060631.2:p.(Ser133Leu)	NC_000011.9:g.71175179C>T	VUS	1 lab	47cdfdaa36
19:36215971 KMT2B G>A	19	36215971	36215971	G	A	KMT2B	c.3511G>A	NM_014727.3	NP_055542.1:p.(Val1171Ile)	NC_000019.9:g.36215971G>A	VUS	1 lab	47ce1442ae
20:13765934 NDUFAF5 G>A	20	13765934	13765934	G	A	NDUFAF5	c.220G>A	NM_024120.5	NP_077025.2:p.(Glu74Lys)	NC_000020.10:g.13765934G>A	VUS	1 lab	1ef359848c
X:147011459 FMR1 A>T	X	147011459	147011459	A	T	FMR1	c.420-8A>T	NM_002024.6	NP_002015.1:p.?	NC_000023.10:g.147011459A>T	(Likely) benign	1 lab	47cfaf32c8
X:70757899 OGT G>A	X	70757899	70757899	G	A	OGT	c.439G>A	NM_181672.3	NP_858058.1:p.(Val147Ile)	NC_000023.10:g.70757899G>A	(Likely) benign	1 lab	47cfda6432
2:73659354 ALMS1 C>T	2	73659354	73659354	C	T	ALMS1	c.1367C>T	NM_001378454.1	NP_001365383.1:p.(Ser456Leu)	NC_000002.11:g.73659354C>T	(Likely) benign	1 lab	47d173e77f
X:44922931 KDM6A A>G	X	44922931	44922931	A	G	KDM6A	c.1948A>G	NM_001291415.2	NP_001278344.1:p.(Ile650Val)	NC_000023.10:g.44922931A>G	(Likely) benign	1 lab	47d3689792
2:149226623 MBD5 C>G	2	149226623	149226623	C	G	MBD5	c.1111C>G	NM_001378120.1	NP_001365049.1:p.(Gln371Glu)	NC_000002.11:g.149226623C>G	(Likely) benign	1 lab	47d41eaf15
8:28573592 EXTL3 A>AT	8	28573592	28573593	A	AT	EXTL3	c.17dup	NM_001440.4	NP_001431.1:p.(Met6IlefsTer51)	NC_000008.10:g.28573593dup	VUS	1 lab	1ef5716cf5
16:55536779 MMP2 G>A	16	55536779	55536779	G	A	MMP2	c.1858G>A	NM_004530.6	NP_004521.1:p.(Val620Ile)	NC_000016.9:g.55536779G>A	(Likely) benign	1 lab	47d540c615
16:87417175 FBXO31 G>T	16	87417175	87417175	G	T	FBXO31	c.176C>A	NM_024735.5	NP_079011.3:p.(Ser59Ter)	NC_000016.9:g.87417175G>T	(Likely) pathogenic	1 lab	47d6bec79e
19:48997046 LMTK3 G>A	19	48997046	48997046	G	A	LMTK3	c.3997C>T	NM_001388485.1	NP_001375414.1:p.(Pro1333Ser)	NC_000019.9:g.48997046G>A	VUS	1 lab	47d6d5faa2
3:4726846 ITPR1 G>A	3	4726846	4726846	G	A	ITPR1	c.3658G>A	NM_001378452.1	NP_001365381.1:p.(Ala1220Thr)	NC_000003.11:g.4726846G>A	VUS	1 lab	47d6f8e482
16:67697400 ENKD1 G>A	16	67697400	67697400	G	A	ENKD1	c.803C>T	NM_032140.3	NP_115516.1:p.(Pro268Leu)	NC_000016.9:g.67697400G>A	VUS	1 lab	47d74e372c
16:2147475 PKD1 G>A	16	2147475	2147475	G	A	PKD1	c.10250C>T	NM_001009944.3	NP_001009944.3:p.(Thr3417Met)	NC_000016.9:g.2147475G>A	VUS	1 lab	47d7683611
7:158664253 DYNC2I1 G>A	7	158664253	158664253	G	A	DYNC2I1	c.490G>A	NM_018051.5	NP_060521.4:p.(Val164Ile)	NC_000007.13:g.158664253G>A	(Likely) benign	1 lab	47d8f1b208
17:42992696 GFAP G>A	17	42992696	42992696	G	A	GFAP	c.159C>T	NM_002055.5	NP_002046.1:p.(Ser53=)	NC_000017.10:g.42992696G>A	(Likely) benign	1 lab	47db438961
X:76763999 ATRX T>G	X	76763999	76763999	T	G	ATRX	c.7309A>C	NM_000489.6	NP_000480.3:p.(Met2437Leu)	NC_000023.10:g.76763999T>G	VUS	1 lab	47dc8f9de9
1:113456544 SLC16A1 CCAT>C	1	113456544	113456548	CCAT	C	SLC16A1	c.1469_1471del	NM_003051.4	NP_003042.3:p.(Asp490del)	NC_000001.10:g.113456546_113456548del	VUS	1 lab	47dde39888
19:12780204 WDR83 T>C	19	12780204	12780204	T	C	WDR83	c.-36-365T>C	NM_001099737.3	NP_001093207.1:p.?	NC_000019.9:g.12780204T>C	(Likely) benign	1 lab	47e186cb04
1:44057116 PTPRF G>A	1	44057116	44057116	G	A	PTPRF	c.1423G>A	NM_002840.5	NP_002831.2:p.(Val475Met)	NC_000001.10:g.44057116G>A	VUS	1 lab	47e5354ddb
19:36216453 KMT2B A>G	19	36216453	36216453	A	G	KMT2B	c.3716A>G	NM_014727.3	NP_055542.1:p.(Gln1239Arg)	NC_000019.9:g.36216453A>G	VUS	1 lab	47e5ee35c9
X:129290582 AIFM1 G>T	X	129290582	129290582	G	T	AIFM1	c.107-5C>A	NM_004208.4	NP_004199.1:p.?	NC_000023.10:g.129290582G>T	(Likely) benign	1 lab	1ef6e1bfe1
1:16525667 ARHGEF19 T>C	1	16525667	16525667	T	C	ARHGEF19	c.2229A>G	NM_153213.5	NP_694945.2:p.(Ser743=)	NC_000001.10:g.16525667T>C	(Likely) benign	1 lab	47e7413dc9
4:104064423 CENPE ATTTGAGTGTTCTAAG>A	4	104064423	104064439	ATTTGAGTGTTCTAAG	A	CENPE	c.5271_5285del	NM_001813.3	NP_001804.2:p.(Leu1758_Asn1762del)	NC_000004.11:g.104064425_104064439del	(Likely) benign	1 lab	47e8e4b58a
1:32120423 COL16A1 T>C	1	32120423	32120423	T	C	COL16A1	c.4327A>G	NM_001856.4	NP_001847.3:p.(Ile1443Val)	NC_000001.10:g.32120423T>C	(Likely) benign	1 lab	47ea5e307d
19:11313289 DOCK6 T>G	19	11313289	11313289	T	G	DOCK6	c.5332A>C	NM_020812.4	NP_065863.2:p.(Lys1778Gln)	NC_000019.9:g.11313289T>G	VUS	1 lab	47eb14343e
11:85406316 SYTL2 C>A	11	85406316	85406316	C	A	SYTL2	c.6642G>T	NM_206927.4	NP_996810.2:p.(Lys2214Asn)	NC_000011.9:g.85406316C>A	VUS	1 lab	47ec724d60
8:10464557 RP1L1 C>A	8	10464557	10464557	C	A	RP1L1	c.7051G>T	NM_178857.6	NP_849188.4:p.(Glu2351Ter)	NC_000008.10:g.10464557C>A	VUS	1 lab	47ee44471c
2:74598740 DCTN1 G>A	2	74598740	74598740	G	A	DCTN1	c.569C>T	NM_004082.5	NP_004073.2:p.(Pro190Leu)	NC_000002.11:g.74598740G>A	(Likely) benign	1 lab	47eeae845e
7:44187277 GCK C>G	7	44187277	44187277	C	G	GCK	c.835G>C	NM_000162.5	NP_000153.1:p.(Glu279Gln)	NC_000007.13:g.44187277C>G	VUS	1 lab	47ef65fd52
X:153171522 AVPR2 G>A	X	153171522	153171522	G	A	AVPR2	c.562G>A	NM_000054.6	NP_000045.1:p.(Gly188Arg)	NC_000023.10:g.153171522G>A	VUS	1 lab	47f02bb0bf
3:173322678 NLGN1 C>G	3	173322678	173322678	C	G	NLGN1	c.290C>G	NM_001365925.2	NP_001352854.1:p.(Pro97Arg)	NC_000003.11:g.173322678C>G	VUS	1 lab	47f08799cf
7:47930312 PKD1L1 C>T	7	47930312	47930312	C	T	PKD1L1	c.2503G>A	NM_138295.5	NP_612152.1:p.(Asp835Asn)	NC_000007.13:g.47930312C>T	(Likely) benign	1 lab	47f14b1e3b
19:39997963 DLL3 A>C	19	39997963	39997963	A	C	DLL3	c.1378A>C	NM_203486.3	NP_982353.1:p.(Met460Leu)	NC_000019.9:g.39997963A>C	VUS	1 lab	47f1f5bcf5
12:52866038 KRT6C C>G	12	52866038	52866038	C	G	KRT6C	c.567G>C	NM_173086.5	NP_775109.2:p.(Lys189Asn)	NC_000012.11:g.52866038C>G	VUS	1 lab	47f248db02
17:10536684 MYH3 C>T	17	10536684	10536684	C	T	MYH3	c.4647+224G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10536684C>T	(Likely) benign	1 lab	47f375caaf
15:75673980 SIN3A TCTC>T	15	75673980	75673986	TCTC	T	SIN3A	c.3259_3261del	NM_001145358.2	NP_001138830.1:p.(Glu1087del)	NC_000015.9:g.75673984_75673986del	VUS	1 lab	47f3e4a475
6:29641105 ZFP57 G>A	6	29641105	29641105	G	A	ZFP57	c.783C>T	NM_001109809.5	NP_001103279.2:p.(Cys261=)	NC_000006.11:g.29641105G>A	(Likely) benign	1 lab	47f5677b74
X:153135360 L1CAM T>C	X	153135360	153135360	T	C	L1CAM	c.1021A>G	NM_001278116.2	NP_001265045.1:p.(Ser341Gly)	NC_000023.10:g.153135360T>C	VUS	1 lab	47f58ac054
19:18901387 COMP C>A	19	18901387	18901387	C	A	COMP	c.201G>T	NM_000095.3	NP_000086.2:p.(Met67Ile)	NC_000019.9:g.18901387C>A	VUS	1 lab	47f5a32362
5:14461301 TRIO G>T	5	14461301	14461301	G	T	TRIO	c.5377G>T	NM_007118.4	NP_009049.2:p.(Val1793Leu)	NC_000005.9:g.14461301G>T	(Likely) benign	1 lab	47f67eda5f
16:72828890 ZFHX3 T>C	16	72828890	72828890	T	C	ZFHX3	c.7691A>G	NM_006885.4	NP_008816.3:p.(Gln2564Arg)	NC_000016.9:g.72828890T>C	(Likely) benign	1 lab	47f6fe5210
6:157099568 ARID1B G>A	6	157099568	157099568	G	A	ARID1B	c.754G>A	NM_001374828.1	NP_001361757.1:p.(Gly252Ser)	NC_000006.11:g.157099568G>A	(Likely) benign	1 lab	47f7958dcf
15:101775564 CHSY1 C>T	15	101775564	101775564	C	T	CHSY1	c.539G>A	NM_014918.5	NP_055733.2:p.(Arg180His)	NC_000015.9:g.101775564C>T	VUS	1 lab	47f7e2f9b2
1:39845019 MACF1 A>G	1	39845019	39845019	A	G	MACF1	c.13421A>G	NM_001394062.1	NP_001380991.1:p.(Gln4474Arg)	NC_000001.10:g.39845019A>G	VUS	1 lab	47f8a73c8c
1:26140602 SELENON C>T	1	26140602	26140602	C	T	SELENON	c.1433C>T	NM_206926.2	NP_996809.1:p.(Ala478Val)	NC_000001.10:g.26140602C>T	VUS	1 lab	47fa4b8c2f
5:36219710 NADK2 C>T	5	36219710	36219710	C	T	NADK2	c.632G>A	NM_001085411.3	NP_001078880.1:p.(Arg211His)	NC_000005.9:g.36219710C>T	(Likely) benign	1 lab	47fc6d52a4
8:41792164 KAT6A T>C	8	41792164	41792164	T	C	KAT6A	c.3574A>G	NM_006766.5	NP_006757.2:p.(Ile1192Val)	NC_000008.10:g.41792164T>C	VUS	1 lab	47fd56b113
7:2582895 BRAT1 C>G	7	2582895	2582895	C	G	BRAT1	c.866G>C	NM_152743.4	NP_689956.2:p.(Cys289Ser)	NC_000007.13:g.2582895C>G	(Likely) benign	1 lab	47fd8b8004
2:33172576 LTBP1 A>G	2	33172576	33172576	A	G	LTBP1	c.185A>G	NM_206943.4	NP_996826.3:p.(Tyr62Cys)	NC_000002.11:g.33172576A>G	VUS	1 lab	47fdbaf714
8:103297514 UBR5 A>G	8	103297514	103297514	A	G	UBR5	c.5537T>C	NM_015902.6	NP_056986.2:p.(Met1846Thr)	NC_000008.10:g.103297514A>G	VUS	1 lab	47fe741b6f
22:31007062 TCN2 C>T	22	31007062	31007062	C	T	TCN2				NC_000022.10:g.31007062C>T	(Likely) benign	1 lab	1fac37fd3d
11:85979491 EED C>T	11	85979491	85979491	C	T	EED	c.861-7C>T	NM_003797.5	NP_003788.2:p.?	NC_000011.9:g.85979491C>T	(Likely) benign	1 lab	48026b0e41
5:140228493 PCDHA1 A>G	5	140228493	140228493	A	G	PCDHA1	c.2394+60224A>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140228493A>G	(Likely) benign	1 lab	4803cefd88
19:17741050 UNC13A A>G	19	17741050	17741050	A	G	UNC13A	c.3573T>C	NM_001080421.3	NP_001073890.2:p.(Asp1191=)	NC_000019.9:g.17741050A>G	(Likely) benign	1 lab	4804f167a6
7:103124166 RELN T>C	7	103124166	103124166	T	C	RELN	c.10115A>G	NM_005045.4	NP_005036.2:p.(His3372Arg)	NC_000007.13:g.103124166T>C	(Likely) benign	1 lab	48064c8950
2:152473982 NEB G>A	2	152473982	152473982	G	A	NEB	c.11077C>T	NM_001164508.2	NP_001157980.2:p.(Arg3693Cys)	NC_000002.11:g.152473982G>A	(Likely) benign	1 lab	480823a983
16:2140927 PKD1 G>A	16	2140927	2140927	G	A	PKD1	c.11961C>T	NM_001009944.3	NP_001009944.3:p.(Ala3987=)	NC_000016.9:g.2140927G>A	(Likely) benign	1 lab	4809261432
7:131883389 PLXNA4 G>C	7	131883389	131883389	G	C	PLXNA4	c.2593C>G	NM_020911.2	NP_065962.1:p.(Pro865Ala)	NC_000007.13:g.131883389G>C	VUS	1 lab	4809bb7e73
15:61390592 RORA G>A	15	61390592	61390592	G	A	RORA	c.166+130660C>T	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.61390592G>A	(Likely) benign	1 lab	480ad502f4
5:149503808 PDGFRB G>A	5	149503808	149503808	G	A	PDGFRB	c.2023+5C>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149503808G>A	(Likely) benign	1 lab	480c4c497b
16:2152543 PKD1 GGGACGT>G	16	2152543	2152550	GGGACGT	G	PKD1	c.9034_9039del	NM_001009944.3	NP_001009944.3:p.(Thr3012_Ser3013del)	NC_000016.9:g.2152545_2152550del	(Likely) pathogenic	1 lab	480ca20713
1:225339751 DNAH14 C>T	1	225339751	225339751	C	T	DNAH14	c.4985C>T	NM_001367479.1	NP_001354408.1:p.(Ala1662Val)	NC_000001.10:g.225339751C>T	(Likely) benign	1 lab	480d14c223
3:123453079 MYLK G>A	3	123453079	123453079	G	A	MYLK	c.774-10C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123453079G>A	(Likely) benign	1 lab	480eea88df
8:144996050 PLEC C>T	8	144996050	144996050	C	T	PLEC	c.7939G>A	NM_201384.3	NP_958786.1:p.(Asp2647Asn)	NC_000008.10:g.144996050C>T	(Likely) benign	1 lab	480ff59325
10:28274066 ODAD2 T>C	10	28274066	28274066	T	C	ODAD2	c.457A>G	NM_018076.5	NP_060546.2:p.(Ile153Val)	NC_000010.10:g.28274066T>C	(Likely) benign	1 lab	4810867ca5
19:42860345 MEGF8 C>T	19	42860345	42860345	C	T	MEGF8	c.4503C>T	NM_001271938.2	NP_001258867.1:p.(Ala1501=)	NC_000019.9:g.42860345C>T	(Likely) benign	1 lab	481175101d
12:56482659 ERBB3 G>C	12	56482659	56482659	G	C	ERBB3	c.1109+7G>C	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56482659G>C	VUS	1 lab	4811815a95
15:43335475 UBR1 T>A	15	43335475	43335475	T	A	UBR1	c.1787A>T	NM_174916.3	NP_777576.1:p.(Lys596Met)	NC_000015.9:g.43335475T>A	VUS	1 lab	4829d4d291
2:220355684 SPEG G>A	2	220355684	220355684	G	A	SPEG	c.9385+6G>A	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220355684G>A	VUS	1 lab	4830642c29
X:70361097 MED12 A>ACAGCAG	X	70361097	70361120	A	ACAGCAG	MED12	c.6303_6308dup	NM_005120.3	NP_005111.2:p.(Gln2114_Gln2115dup)	NC_000023.10:g.70361115_70361120dup	(Likely) benign	1 lab	481243b08b
6:84881407 CEP162 C>A	6	84881407	84881407	C	A	CEP162	c.2197G>T	NM_014895.4	NP_055710.2:p.(Asp733Tyr)	NC_000006.11:g.84881407C>A	VUS	1 lab	48151f82b5
12:56823903 TIMELESS T>C	12	56823903	56823903	T	C	TIMELESS	c.1072A>G	NM_003920.5	NP_003911.2:p.(Met358Val)	NC_000012.11:g.56823903T>C	VUS	1 lab	48162a07c2
2:179664325 TTN G>A	2	179664325	179664325	G	A	TTN	c.803C>T	NM_001267550.2	NP_001254479.2:p.(Pro268Leu)	NC_000002.11:g.179664325G>A	VUS	1 lab	4817b1cfd5
15:55789966 DNAAF4 A>C	15	55789966	55789966	A	C	DNAAF4	c.215T>G	NM_130810.4	NP_570722.2:p.(Val72Gly)	NC_000015.9:g.55789966A>C	VUS	1 lab	48189c43d0
19:8654383 ADAMTS10 G>T	19	8654383	8654383	G	T	ADAMTS10	c.1987C>A	NM_030957.4	NP_112219.3:p.(Pro663Thr)	NC_000019.9:g.8654383G>T	VUS	1 lab	4818fb5ebe
1:165697319 TMCO1 C>T	1	165697319	165697319	C	T	TMCO1	c.508G>A	NM_019026.6	NP_061899.3:p.(Ala170Thr)	NC_000001.10:g.165697319C>T	(Likely) benign	1 lab	481991fd3a
X:99551346 PCDH19 T>C	X	99551346	99551346	T	C	PCDH19	c.3376A>G	NM_001184880.2	NP_001171809.1:p.(Ser1126Gly)	NC_000023.10:g.99551346T>C	VUS	1 lab	481a3890d4
X:76938235 ATRX T>C	X	76938235	76938235	T	C	ATRX	c.2513A>G	NM_000489.6	NP_000480.3:p.(Lys838Arg)	NC_000023.10:g.76938235T>C	VUS	1 lab	481ab04645
X:47426051 ARAF C>T	X	47426051	47426051	C	T	ARAF	c.571C>T	NM_001654.5	NP_001645.1:p.(His191Tyr)	NC_000023.10:g.47426051C>T	(Likely) benign	1 lab	481b34723f
15:74467615 ISLR G>A	15	74467615	74467615	G	A	ISLR	c.416G>A	NM_005545.4	NP_005536.1:p.(Arg139His)	NC_000015.9:g.74467615G>A	VUS	1 lab	481caec3c7
15:67073836 SMAD6 C>T	15	67073836	67073836	C	T	SMAD6	c.1454C>T	NM_005585.5	NP_005576.3:p.(Pro485Leu)	NC_000015.9:g.67073836C>T	VUS	1 lab	481d6ccd60
7:91867034 KRIT1 C>A	7	91867034	91867034	C	A	KRIT1	c.302G>T	NM_194454.3	NP_919436.1:p.(Gly101Val)	NC_000007.13:g.91867034C>A	(Likely) benign	1 lab	481ecda6fc
15:89402386 ACAN G>T	15	89402386	89402386	G	T	ACAN	c.6570G>T	NM_001369268.1	NP_001356197.1:p.(Thr2190=)	NC_000015.9:g.89402386G>T	(Likely) benign	1 lab	482222d115
6:129828707 LAMA2 C>T	6	129828707	129828707	C	T	LAMA2	c.8777C>T	NM_000426.4	NP_000417.3:p.(Thr2926Ile)	NC_000006.11:g.129828707C>T	VUS	1 lab	482277bc75
19:1529423 PLK5 G>A	19	1529423	1529423	G	A	PLK5	c.424G>A	NM_001243079.2	NP_001230008.1:p.(Glu142Lys)	NC_000019.9:g.1529423G>A	(Likely) benign	1 lab	4822cd9dc9
2:170063502 LRP2 C>T	2	170063502	170063502	C	T	LRP2	c.6728G>A	NM_004525.3	NP_004516.2:p.(Arg2243Gln)	NC_000002.11:g.170063502C>T	VUS	1 lab	48237deeea
16:3293289 MEFV T>C	16	3293289	3293289	T	C	MEFV	c.2198A>G	NM_000243.2	NP_000234.1:p.(Asn733Ser)	NC_000016.9:g.3293289T>C	VUS	1 lab	1fae7b8731
X:68749738 NALF2 GT>G	X	68749738	68749739	GT	G	NALF2	c.1359del	NM_015686.3	NP_056501.2:p.(Gly455AspfsTer10)	NC_000023.10:g.68749739del	VUS	1 lab	4824180b74
14:92472416 TRIP11 G>C	14	92472416	92472416	G	C	TRIP11	c.1904C>G	NM_004239.4	NP_004230.2:p.(Ser635Cys)	NC_000014.8:g.92472416G>C	(Likely) benign	1 lab	48242bb786
16:1549311 TELO2 C>T	16	1549311	1549311	C	T	TELO2	c.910C>T	NM_016111.4	NP_057195.2:p.(Leu304=)	NC_000016.9:g.1549311C>T	VUS	1 lab	48280692c4
17:54939273 DGKE T>C	17	54939273	54939273	T	C	DGKE	c.1406T>C	NM_003647.3	NP_003638.1:p.(Leu469Pro)	NC_000017.10:g.54939273T>C	(Likely) benign	1 lab	1faee4f43e
21:38862913 DYRK1A G>C	21	38862913	38862913	G	C	DYRK1A	c.924+150G>C	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38862913G>C	(Likely) benign	1 lab	482a408d0a
7:1539106 INTS1 C>T	7	1539106	1539106	C	T	INTS1	c.844+3G>A	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1539106C>T	(Likely) benign	1 lab	482c0b9e3d
1:237948067 RYR2 A>G	1	237948067	237948067	A	G	RYR2	c.13055A>G	NM_001035.3	NP_001026.2:p.(Lys4352Arg)	NC_000001.10:g.237948067A>G	(Likely) benign	1 lab	482c5ed316
4:5798802 EVC G>A	4	5798802	5798802	G	A	EVC	c.1940G>A	NM_153717.3	NP_714928.1:p.(Arg647Gln)	NC_000004.11:g.5798802G>A	VUS	1 lab	482d35b90b
9:37887797 SLC25A51 G>T	9	37887797	37887797	G	T	SLC25A51	c.751C>A	NM_033412.4	NP_219480.1:p.(Pro251Thr)	NC_000009.11:g.37887797G>T	(Likely) benign	1 lab	482d35bca2
5:127873210 FBN2 C>A	5	127873210	127873210	C	A	FBN2	c.87G>T	NM_001999.4	NP_001990.2:p.(Gln29His)	NC_000005.9:g.127873210C>A	VUS	1 lab	482e24181e
9:33318908 NFX1 G>A	9	33318908	33318908	G	A	NFX1	c.1689G>A	NM_002504.6	NP_002495.2:p.(Lys563=)	NC_000009.11:g.33318908G>A	VUS	1 lab	482e84a977
14:23853757 MYH6 C>T	14	23853757	23853757	C	T	MYH6	c.5459G>A	NM_002471.4	NP_002462.2:p.(Arg1820Gln)	NC_000014.8:g.23853757C>T	VUS	1 lab	482f2c94f1
11:831534 CRACR2B G>C	11	831534	831534	G	C	CRACR2B	c.1026-1G>C	NM_001286606.2	NP_001273535.1:p.?	NC_000011.9:g.831534G>C	VUS	1 lab	483006665c
1:8421096 RERE G>A	1	8421096	8421096	G	A	RERE	c.2471C>T	NM_001042681.2	NP_001036146.1:p.(Pro824Leu)	NC_000001.10:g.8421096G>A	(Likely) benign	1 lab	4831d6e5f6
6:1611642 FOXC1 C>G	6	1611642	1611642	C	G	FOXC1	c.962C>G	NM_001453.3	NP_001444.2:p.(Pro321Arg)	NC_000006.11:g.1611642C>G	VUS	1 lab	483316ebb9
2:241818185 AGXT G>A	2	241818185	241818185	G	A	AGXT	c.1126G>A	NM_000030.3	NP_000021.1:p.(Val376Met)	NC_000002.11:g.241818185G>A	VUS	1 lab	48332eb8e7
12:20522883 PDE3A G>C	12	20522883	20522883	G	C	PDE3A	c.665G>C	NM_000921.5	NP_000912.3:p.(Arg222Thr)	NC_000012.11:g.20522883G>C	(Likely) benign	1 lab	48361e9725
11:640003 DRD4 C>G	11	640003	640003	C	G	DRD4	c.754C>G	NM_000797.4	NP_000788.2:p.(Arg252Gly)	NC_000011.9:g.640003C>G	VUS	1 lab	4836dabcc1
19:54677774 MBOAT7 GGGCTGGGATGCTGCCTTCCGCC>G	19	54677774	54677803	GGGCTGGGATGCTGCCTTCCGCC	G	MBOAT7	c.1361_1382del	NM_024298.5	NP_077274.3:p.(Arg454ProfsTer28)	NC_000019.9:g.54677782_54677803del	(Likely) pathogenic	1 lab	48390fd284
15:30381244 GOLGA8J G>T	15	30381244	30381244	G	T	GOLGA8J	c.786+1G>T	NM_001282472.2	NP_001269401.1:p.?	NC_000015.9:g.30381244G>T	VUS	1 lab	4839559010
5:176637739 NSD1 C>T	5	176637739	176637739	C	T	NSD1	c.2339C>T	NM_022455.5	NP_071900.2:p.(Ser780Leu)	NC_000005.9:g.176637739C>T	(Likely) benign	1 lab	483a127e95
7:103202110 RELN G>C	7	103202110	103202110	G	C	RELN	c.5398C>G	NM_005045.4	NP_005036.2:p.(Leu1800Val)	NC_000007.13:g.103202110G>C	VUS	1 lab	483ad1cdfc
1:155348299 ASH1L C>T	1	155348299	155348299	C	T	ASH1L	c.6218G>A	NM_018489.3	NP_060959.2:p.(Arg2073His)	NC_000001.10:g.155348299C>T	VUS	1 lab	483e3b418a
7:295983 FAM20C G>A	7	295983	295983	G	A	FAM20C	c.1241G>A	NM_020223.4	NP_064608.2:p.(Arg414His)	NC_000007.13:g.295983G>A	VUS	1 lab	483e7bbc47
8:22064484 BMP1 G>A	8	22064484	22064484	G	A	BMP1	c.2351G>A	NM_006129.5	NP_006120.1:p.(Arg784Gln)	NC_000008.10:g.22064484G>A	VUS	1 lab	483feda99e
6:152461128 SYNE1 C>T	6	152461128	152461128	C	T	SYNE1	c.25415G>A	NM_182961.4	NP_892006.3:p.(Ser8472Asn)	NC_000006.11:g.152461128C>T	(Likely) benign	1 lab	4841431d17
16:3076749 THOC6 T>C	16	3076749	3076749	T	C	THOC6	c.553T>C	NM_024339.5	NP_077315.2:p.(Ser185Pro)	NC_000016.9:g.3076749T>C	VUS	1 lab	4841e50885
12:7046050 ATN1 G>T	12	7046050	7046050	G	T	ATN1	c.1620G>T	NM_001940.4	NP_001931.2:p.(Arg540Ser)	NC_000012.11:g.7046050G>T	VUS	1 lab	48998cc97c
20:45000328 ELMO2 TC>AA	20	45000328	45000329	TC	AA	ELMO2	c.1582_1583delinsTT	NM_133171.5	NP_573403.1:p.(Glu528Leu)	NC_000020.10:g.45000328_45000329delinsAA	VUS	1 lab	48425161e6
16:2260585 BRICD5 C>CCAG	16	2260585	2260603	C	CCAG	BRICD5	c.115_117dup	NM_182563.4	NP_872369.2:p.(Leu39dup)	NC_000016.9:g.2260601_2260603dup	(Likely) benign	1 lab	4842ebfcf8
7:148507774 EZH2 A>T	7	148507774	148507774	A	T	EZH2	c.1948-268T>A	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148507774A>T	(Likely) benign	1 lab	484427e5c1
7:75618514 TMEM120A C>T	7	75618514	75618514	C	T	TMEM120A	c.346G>A	NM_031925.3	NP_114131.1:p.(Val116Ile)	NC_000007.13:g.75618514C>T	(Likely) benign	1 lab	4845d80bbf
4:26407810 RBPJ A>G	4	26407810	26407810	A	G	RBPJ	c.73A>G	NM_015874.6	NP_056958.3:p.(Asn25Asp)	NC_000004.11:g.26407810A>G	VUS	1 lab	4845df3f4c
2:179641067 TTN C>G	2	179641067	179641067	C	G	TTN	c.5524G>C	NM_001267550.2	NP_001254479.2:p.(Asp1842His)	NC_000002.11:g.179641067C>G	VUS	1 lab	4846123651
X:23957371 CXorf58 C>T	X	23957371	23957371	C	T	CXorf58	c.950C>T	NM_152761.3	NP_689974.2:p.(Thr317Met)	NC_000023.10:g.23957371C>T	VUS	1 lab	4846c50927
16:57685369 ADGRG1 C>T	16	57685369	57685369	C	T	ADGRG1	c.322C>T	NM_201525.4	NP_958933.1:p.(Arg108Cys)	NC_000016.9:g.57685369C>T	VUS	1 lab	48498c566b
19:12963028 MAST1 C>T	19	12963028	12963028	C	T	MAST1	c.976C>T	NM_014975.3	NP_055790.1:p.(Arg326Cys)	NC_000019.9:g.12963028C>T	VUS	1 lab	484cafde8e
16:1799403 MAPK8IP3 G>A	16	1799403	1799403	G	A	MAPK8IP3	c.1216+682G>A	NM_001318852.2	NP_001305781.1:p.?	NC_000016.9:g.1799403G>A	(Likely) benign	1 lab	484d0c3837
17:649703 GEMIN4 T>C	17	649703	649703	T	C	GEMIN4	c.1580A>G	NM_015721.3	NP_056536.2:p.(Asn527Ser)	NC_000017.10:g.649703T>C	VUS	1 lab	484d6d6714
X:39929798 BCOR G>A	X	39929798	39929798	G	A	BCOR	c.3238+428C>T	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39929798G>A	(Likely) benign	1 lab	484e7235b7
1:245021539 HNRNPU T>C	1	245021539	245021539	T	C	HNRNPU	c.1268A>G	NM_031844.3	NP_114032.2:p.(Lys423Arg)	NC_000001.10:g.245021539T>C	(Likely) benign	1 lab	484f8eda4e
11:17409624 KCNJ11 C>G	11	17409624	17409624	C	G	KCNJ11	c.15G>C	NM_000525.4	NP_000516.3:p.(Lys5Asn)	NC_000011.9:g.17409624C>G	VUS	1 lab	484fdf9c38
1:197026260 F13B T>TA	1	197026260	197026261	T	TA	F13B	c.1053dup	NM_001994.3	NP_001985.2:p.(Lys352Ter)	NC_000001.10:g.197026261dup	VUS	1 lab	4853a79080
9:116958266 COL27A1 G>A	9	116958266	116958266	G	A	COL27A1	c.2098G>A	NM_032888.4	NP_116277.2:p.(Gly700Arg)	NC_000009.11:g.116958266G>A	VUS	1 lab	4855dffae3
19:39068849 RYR1 G>A	19	39068849	39068849	G	A	RYR1	c.14364+5G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39068849G>A	VUS	1 lab	4856cab910
X:6452495 VCX3A G>C	X	6452495	6452495	G	C	VCX3A	c.44C>G	NM_016379.4	NP_057463.2:p.(Thr15Arg)	NC_000023.10:g.6452495G>C	(Likely) benign	1 lab	4858d46003
2:44547747 SLC3A1 G>A	2	44547747	44547747	G	A	SLC3A1	c.2027G>A	NM_000341.4	NP_000332.2:p.(Ser676Asn)	NC_000002.11:g.44547747G>A	VUS	1 lab	4859b0cd61
17:4805606 CHRNE G>A	17	4805606	4805606	G	A	CHRNE	c.250C>T	NM_000080.4	NP_000071.1:p.(Arg84Ter)	NC_000017.10:g.4805606G>A	(Likely) pathogenic	1 lab	4859cdeb3f
4:5624530 EVC2 T>C	4	5624530	5624530	T	C	EVC2	c.2235A>G	NM_147127.5	NP_667338.3:p.(Glu745=)	NC_000004.11:g.5624530T>C	(Likely) benign	1 lab	485ab3e0cf
1:11194532 MTOR G>C	1	11194532	11194532	G	C	MTOR	c.5131-9C>G	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11194532G>C	(Likely) benign	1 lab	485ae3043b
3:51430056 RBM15B T>C	3	51430056	51430056	T	C	RBM15B	c.1226T>C	NM_013286.5	NP_037418.3:p.(Ile409Thr)	NC_000003.11:g.51430056T>C	VUS	1 lab	485c071a9f
11:111739396 ALG9 G>C	11	111739396	111739396	G	C	ALG9	c.334C>G	NM_024740.2	NP_079016.2:p.(Arg112Gly)	NC_000011.9:g.111739396G>C	VUS	1 lab	485c8923d0
11:65307308 LTBP3 C>T	11	65307308	65307308	C	T	LTBP3	c.3430G>A	NM_001130144.3	NP_001123616.1:p.(Glu1144Lys)	NC_000011.9:g.65307308C>T	VUS	1 lab	485cf384e4
10:50690888 ERCC6 T>C	10	50690888	50690888	T	C	ERCC6	c.2014A>G	NM_000124.4	NP_000115.1:p.(Ile672Val)	NC_000010.10:g.50690888T>C	VUS	1 lab	485cfbd01a
4:5564841 EVC2 TG>T	4	5564841	5564842	TG	T	EVC2	c.3660del	NM_147127.5	NP_667338.3:p.(Ser1220ArgfsTer3)	NC_000004.11:g.5564842del	(Likely) pathogenic	1 lab	485d0bdad1
8:106813905 ZFPM2 G>A	8	106813905	106813905	G	A	ZFPM2	c.1595G>A	NM_012082.4	NP_036214.2:p.(Ser532Asn)	NC_000008.10:g.106813905G>A	VUS	1 lab	485e96f692
3:189604335 TP63 C>A	3	189604335	189604335	C	A	TP63	c.1502C>A	NM_003722.5	NP_003713.3:p.(Ala501Asp)	NC_000003.11:g.189604335C>A	VUS	1 lab	486066416e
5:80021399 MSH3 T>C	5	80021399	80021399	T	C	MSH3	c.1453+15T>C	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80021399T>C	(Likely) benign	1 lab	486108e860
2:225343000 CUL3 C>T	2	225343000	225343000	C	T	CUL3	c.2092G>A	NM_003590.5	NP_003581.1:p.(Asp698Asn)	NC_000002.11:g.225343000C>T	VUS	1 lab	1ef940b6a3
16:16276376 ABCC6 C>T	16	16276376	16276376	C	T	ABCC6	c.2140G>A	NM_001171.6	NP_001162.5:p.(Gly714Arg)	NC_000016.9:g.16276376C>T	(Likely) benign	1 lab	4862b34255
18:56024414 NEDD4L TAACA>T	18	56024414	56024418	TAACA	T	NEDD4L	c.1709-11_1709-8del	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56024415_56024418del	(Likely) benign	1 lab	48630bc984
5:158588632 RNF145 TGAAAA>T	5	158588632	158588637	TGAAAA	T	RNF145	c.1270-7_1270-3del	NM_001199383.2	NP_001186312.1:p.?	NC_000005.9:g.158588633_158588637del	VUS	1 lab	48634d9eca
19:18901393 COMP C>T	19	18901393	18901393	C	T	COMP	c.195G>A	NM_000095.3	NP_000086.2:p.(Thr65=)	NC_000019.9:g.18901393C>T	(Likely) benign	1 lab	4864bb4c03
16:57269148 RSPRY1 G>T	16	57269148	57269148	G	T	RSPRY1	c.1634+8G>T	NM_133368.3	NP_588609.1:p.?	NC_000016.9:g.57269148G>T	(Likely) benign	1 lab	48651a9a6a
15:75230282 COX5A G>C	15	75230282	75230282	G	C	COX5A	c.74C>G	NM_004255.4	NP_004246.2:p.(Ser25Cys)	NC_000015.9:g.75230282G>C	(Likely) benign	1 lab	4865da0eed
15:45884381 BLOC1S6 T>C	15	45884381	45884381	T	C	BLOC1S6	c.131T>C	NM_012388.4	NP_036520.1:p.(Ile44Thr)	NC_000015.9:g.45884381T>C	VUS	1 lab	486792e953
1:1289293 MXRA8 A>T	1	1289293	1289293	A	T	MXRA8	c.1238T>A	NM_032348.4	NP_115724.1:p.(Ile413Asn)	NC_000001.10:g.1289293A>T	VUS	1 lab	487bb13cf3
6:17601123 FAM8A1 CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT>C	6	17601123	17601154	CGCGGCGCCGCCGCCCCCGCAGCTGGGCTATT	C	FAM8A1	c.484_514del	NM_016255.3	NP_057339.1:p.(Ala162ThrfsTer7)	NC_000006.11:g.17601124_17601154del	(Likely) benign	1 lab	486810bd88
11:71152438 DHCR7 G>C	11	71152438	71152438	G	C	DHCR7	c.461C>G	NM_001360.3	NP_001351.2:p.(Thr154Arg)	NC_000011.9:g.71152438G>C	VUS	1 lab	4868304d8e
15:63932392 HERC1 C>G	15	63932392	63932392	C	G	HERC1	c.11860G>C	NM_003922.4	NP_003913.3:p.(Asp3954His)	NC_000015.9:g.63932392C>G	VUS	1 lab	486971e20a
X:47426380 ARAF T>C	X	47426380	47426380	T	C	ARAF	c.728-5T>C	NM_001654.5	NP_001645.1:p.?	NC_000023.10:g.47426380T>C	(Likely) benign	1 lab	4869fbad12
15:63937256 HERC1 G>C	15	63937256	63937256	G	C	HERC1	c.11119C>G	NM_003922.4	NP_003913.3:p.(Gln3707Glu)	NC_000015.9:g.63937256G>C	VUS	1 lab	486b2a97ab
16:51175655 SALL1 C>CGCTGCTGCTGCTGCTGCT	16	51175655	51175685	C	CGCTGCTGCTGCTGCTGCT	SALL1	c.460_477dup	NM_002968.3	NP_002959.2:p.(Ser154_Ser159dup)	NC_000016.9:g.51175668_51175685dup	VUS	1 lab	486b897913
2:206592777 NRP2 C>T	2	206592777	206592777	C	T	NRP2	c.1146+7C>T	NM_003872.3	NP_003863.2:p.?	NC_000002.11:g.206592777C>T	(Likely) benign	1 lab	486bbcb4df
X:151909171 CSAG1 C>T	X	151909171	151909171	C	T	CSAG1	c.200C>T	NM_001102576.3	NP_001096046.2:p.(Pro67Leu)	NC_000023.10:g.151909171C>T	VUS	1 lab	486c8b4300
12:112892407 PTPN11 T>G	12	112892407	112892407	T	G	PTPN11	c.565T>G	NM_002834.3	NP_002825.3:p.(Ser189Ala)	NC_000012.11:g.112892407T>G	(Likely) benign	1 lab	1fb1f7d9b2
X:18597954 CDKL5 T>C	X	18597954	18597954	T	C	CDKL5	c.283-14T>C	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18597954T>C	(Likely) benign	1 lab	1fb405f505
15:89379520 ACAN C>T	15	89379520	89379520	C	T	ACAN	c.70+13C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89379520C>T	(Likely) benign	1 lab	486ef51efd
11:118352490 KMT2A G>C	11	118352490	118352490	G	C	KMT2A	c.3695G>C	NM_001197104.2	NP_001184033.1:p.(Ser1232Thr)	NC_000011.9:g.118352490G>C	(Likely) benign	1 lab	486fd7a922
1:120307113 HMGCS2 C>T	1	120307113	120307113	C	T	HMGCS2	c.241G>A	NM_005518.4	NP_005509.1:p.(Ala81Thr)	NC_000001.10:g.120307113C>T	VUS	1 lab	48704e8dd4
17:76117754 TMC6 C>G	17	76117754	76117754	C	G	TMC6	c.1266G>C	NM_001127198.5	NP_001120670.1:p.(Arg422Ser)	NC_000017.10:g.76117754C>G	(Likely) benign	1 lab	4870b06059
X:153696683 PLXNA3 G>A	X	153696683	153696683	G	A	PLXNA3	c.4001G>A	NM_017514.5	NP_059984.3:p.(Gly1334Glu)	NC_000023.10:g.153696683G>A	(Likely) benign	1 lab	4871d26b34
14:75513759 MLH3 T>C	14	75513759	75513759	T	C	MLH3	c.2600A>G	NM_001040108.2	NP_001035197.1:p.(Glu867Gly)	NC_000014.8:g.75513759T>C	VUS	1 lab	4872b88e86
6:31829148 NEU1 G>A	6	31829148	31829148	G	A	NEU1	c.432C>T	NM_000434.4	NP_000425.1:p.(Ser144=)	NC_000006.11:g.31829148G>A	VUS	1 lab	48733c4fd8
21:43169357 RIPK4 C>T	21	43169357	43169357	C	T	RIPK4	c.630G>A	NM_020639.3	NP_065690.2:p.(Ala210=)	NC_000021.8:g.43169357C>T	(Likely) benign	1 lab	1f12d293b6
19:42874900 MEGF8 C>T	19	42874900	42874900	C	T	MEGF8	c.7053C>T	NM_001271938.2	NP_001258867.1:p.(Cys2351=)	NC_000019.9:g.42874900C>T	(Likely) benign	1 lab	4873ab1929
19:13318459 CACNA1A C>T	19	13318459	13318459	C	T	CACNA1A	c.7189G>A	NM_001127222.2	NP_001120694.1:p.(Val2397Met)	NC_000019.9:g.13318459C>T	(Likely) benign	1 lab	4873f4ec66
5:14487810 TRIO C>G	5	14487810	14487810	C	G	TRIO	c.7073C>G	NM_007118.4	NP_009049.2:p.(Ser2358Trp)	NC_000005.9:g.14487810C>G	(Likely) benign	1 lab	48749a9f91
1:155324287 ASH1L C>T	1	155324287	155324287	C	T	ASH1L	c.7190G>A	NM_018489.3	NP_060959.2:p.(Arg2397Gln)	NC_000001.10:g.155324287C>T	(Likely) benign	1 lab	48756a493f
11:6661637 DCHS1 A>C	11	6661637	6661637	A	C	DCHS1	c.1208T>G	NM_003737.4	NP_003728.1:p.(Val403Gly)	NC_000011.9:g.6661637A>C	VUS	1 lab	48759d5260
17:36093767 HNF1B T>G	17	36093767	36093767	T	G	HNF1B	c.592A>C	NM_000458.4	NP_000449.1:p.(Ser198Arg)	NC_000017.10:g.36093767T>G	VUS	1 lab	4875b78162
1:158227246 CD1A G>A	1	158227246	158227246	G	A	CD1A	c.919G>A	NM_001763.3	NP_001754.2:p.(Val307Met)	NC_000001.10:g.158227246G>A	(Likely) benign	1 lab	48762e6614
20:29976920 DEFB119 G>A	20	29976920	29976920	G	A	DEFB119	c.61+1306C>T	NM_153289.4	NP_695021.2:p.?	NC_000020.10:g.29976920G>A	VUS	1 lab	496d263f85
2:152402515 NEB T>TAAAAAAAAAAA	2	152402515	152402532	T	TAAAAAAAAAAA	NEB	c.20467-14_20467-4dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152402522_152402532dup	(Likely) benign	1 lab	48776f8d3a
7:6022477 PMS2 G>A	7	6022477	6022477	G	A	PMS2	c.2152C>T	NM_000535.7	NP_000526.2:p.(Leu718Phe)	NC_000007.13:g.6022477G>A	VUS	1 lab	48d1b28e7d
X:51639506 MAGED1 TTAA>T	X	51639506	51639512	TTAA	T	MAGED1	c.759_761del	NM_006986.4	NP_008917.3:p.(Asn254del)	NC_000023.10:g.51639510_51639512del	VUS	1 lab	487815c05f
1:197112538 ASPM T>G	1	197112538	197112538	T	G	ASPM	c.844A>C	NM_018136.5	NP_060606.3:p.(Asn282His)	NC_000001.10:g.197112538T>G	VUS	1 lab	487893f7c1
7:92734638 SAMD9 T>G	7	92734638	92734638	T	G	SAMD9	c.773A>C	NM_017654.4	NP_060124.2:p.(Glu258Ala)	NC_000007.13:g.92734638T>G	(Likely) pathogenic	1 lab	487a9cec1b
8:100454715 VPS13B A>C	8	100454715	100454715	A	C	VPS13B	c.3297A>C	NM_017890.4	NP_060360.3:p.(Thr1099=)	NC_000008.10:g.100454715A>C	(Likely) benign	1 lab	1fb91e9256
22:19209037 CLTCL1 T>G	22	19209037	19209037	T	G	CLTCL1	c.2659A>C	NM_007098.4	NP_009029.3:p.(Asn887His)	NC_000022.10:g.19209037T>G	VUS	1 lab	487cd030f7
2:143743533 KYNU C>T	2	143743533	143743533	C	T	KYNU	c.845C>T	NM_003937.3	NP_003928.1:p.(Ala282Val)	NC_000002.11:g.143743533C>T	VUS	1 lab	487cde9898
16:70711690 MTSS2 C>A	16	70711690	70711690	C	A	MTSS2	c.732+5G>T	NM_138383.3	NP_612392.1:p.?	NC_000016.9:g.70711690C>A	(Likely) benign	1 lab	487ead61f2
14:74754966 ABCD4 T>C	14	74754966	74754966	T	C	ABCD4	c.1507-4A>G	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74754966T>C	(Likely) benign	1 lab	487ef5dd7b
4:151520200 LRBA G>C	4	151520200	151520200	G	C	LRBA	c.6005C>G	NM_001364905.1	NP_001351834.1:p.(Ser2002Trp)	NC_000004.11:g.151520200G>C	VUS	1 lab	4881a77307
19:1465890 APC2 C>G	19	1465890	1465890	C	G	APC2	c.2590C>G	NM_005883.3	NP_005874.1:p.(Leu864Val)	NC_000019.9:g.1465890C>G	VUS	1 lab	4983ec8bde
2:170129539 LRP2 G>T	2	170129539	170129539	G	T	LRP2	c.2014C>A	NM_004525.3	NP_004516.2:p.(Gln672Lys)	NC_000002.11:g.170129539G>T	VUS	1 lab	4883932e13
19:14863193 ADGRE2 A>C	19	14863193	14863193	A	C	ADGRE2	c.1736T>G	NM_013447.4	NP_038475.2:p.(Leu579Arg)	NC_000019.9:g.14863193A>C	VUS	1 lab	1efd3b6624
7:48318518 ABCA13 TA>T	7	48318518	48318526	TA	T	ABCA13	c.7735del	NM_152701.5	NP_689914.3:p.(Ile2579Ter)	NC_000007.13:g.48318526del	VUS	1 lab	488588e8a5
12:7883435 CLEC4C TG>T	12	7883435	7883436	TG	T	CLEC4C	c.454del	NM_001371390.1	NP_001358319.1:p.(His152IlefsTer31)	NC_000012.11:g.7883436del	VUS	1 lab	48863b1f50
2:182542715 NEUROD1 G>A	2	182542715	182542715	G	A	NEUROD1	c.873C>T	NM_002500.5	NP_002491.3:p.(Ala291=)	NC_000002.11:g.182542715G>A	(Likely) benign	1 lab	4886466017
12:105597501 APPL2 G>A	12	105597501	105597501	G	A	APPL2	c.684C>T	NM_018171.5	NP_060641.2:p.(Ser228=)	NC_000012.11:g.105597501G>A	(Likely) benign	1 lab	488753af60
X:77254004 ATP7A C>T	X	77254004	77254004	C	T	ATP7A	c.1366C>T	NM_000052.7	NP_000043.4:p.(Gln456Ter)	NC_000023.10:g.77254004C>T	(Likely) pathogenic	1 lab	48886a09a3
12:58195004 AVIL A>G	12	58195004	58195004	A	G	AVIL	c.2152-9T>C	NM_006576.3	NP_006567.3:p.?	NC_000012.11:g.58195004A>G	(Likely) benign	1 lab	1fbc4f4462
7:128851930 SMO C>T	7	128851930	128851930	C	T	SMO	c.2002C>T	NM_005631.5	NP_005622.1:p.(Arg668Cys)	NC_000007.13:g.128851930C>T	VUS	1 lab	48895e952a
4:96069915 BMPR1B G>C	4	96069915	96069915	G	C	BMPR1B	c.1093G>C	NM_001203.3	NP_001194.1:p.(Asp365His)	NC_000004.11:g.96069915G>C	VUS	1 lab	48897bb3f0
17:37829766 PGAP3 C>T	17	37829766	37829766	C	T	PGAP3	c.694+1G>A	NM_033419.5	NP_219487.3:p.?	NC_000017.10:g.37829766C>T	(Likely) pathogenic	1 lab	488998e4d3
2:152490252 NEB A>G	2	152490252	152490252	A	G	NEB	c.9330T>C	NM_001164508.2	NP_001157980.2:p.(Tyr3110=)	NC_000002.11:g.152490252A>G	(Likely) benign	1 lab	4889b8cec3
20:19977487 RIN2 G>A	20	19977487	19977487	G	A	RIN2	c.2364+1G>A	NM_018993.4	NP_061866.1:p.?	NC_000020.10:g.19977487G>A	VUS	1 lab	488a337e12
12:52168112 SCN8A A>G	12	52168112	52168112	A	G	SCN8A	c.3785A>G	NM_001330260.2	NP_001317189.1:p.(Asn1262Ser)	NC_000012.11:g.52168112A>G	VUS	1 lab	488b0162c7
16:2159284 PKD1 G>A	16	2159284	2159284	G	A	PKD1	c.5884C>T	NM_001009944.3	NP_001009944.3:p.(Gln1962Ter)	NC_000016.9:g.2159284G>A	(Likely) pathogenic	1 lab	488c1f5b7d
8:77618811 ZFHX4 G>C	8	77618811	77618811	G	C	ZFHX4	c.2488G>C	NM_024721.5	NP_078997.4:p.(Gly830Arg)	NC_000008.10:g.77618811G>C	(Likely) benign	1 lab	488c2ba967
7:99778300 STAG3 G>A	7	99778300	99778300	G	A	STAG3	c.116+5G>A	NM_012447.4	NP_036579.2:p.?	NC_000007.13:g.99778300G>A	(Likely) benign	1 lab	1efe5b0072
3:47044587 NBEAL2 G>A	3	47044587	47044587	G	A	NBEAL2	c.5584+16G>A	NM_015175.2	NP_055990.1:p.?	NC_000003.11:g.47044587G>A	(Likely) benign	1 lab	1fbcacff16
6:152532699 SYNE1 G>A	6	152532699	152532699	G	A	SYNE1	c.22519C>T	NM_182961.4	NP_892006.3:p.(Arg7507Cys)	NC_000006.11:g.152532699G>A	VUS	1 lab	488da757a0
21:46917558 COL18A1 G>C	21	46917558	46917558	G	C	COL18A1	c.2666G>C	NM_001379500.1	NP_001366429.1:p.(Gly889Ala)	NC_000021.8:g.46917558G>C	VUS	1 lab	488fe2e697
16:69905721 WWP2 C>T	16	69905721	69905721	C	T	WWP2	c.590C>T	NM_001270454.2	NP_001257383.1:p.(Ser197Leu)	NC_000016.9:g.69905721C>T	(Likely) benign	1 lab	489189ab33
14:21853880 CHD8 ATCT>A	14	21853880	21853888	ATCT	A	CHD8	c.7635_7637del	NM_001170629.2	NP_001164100.1:p.(Glu2545del)	NC_000014.8:g.21853886_21853888del	(Likely) benign	1 lab	48921d28e8
2:186668433 FSIP2 G>T	2	186668433	186668433	G	T	FSIP2	c.14400G>T	NM_173651.4	NP_775922.3:p.(Gln4800His)	NC_000002.11:g.186668433G>T	VUS	1 lab	489225ac61
8:12286372 FAM86B2 GT>G	8	12286372	12286373	GT	G	FAM86B2	c.511del	NM_001137610.3	NP_001131082.1:p.(Thr171GlnfsTer38)	NC_000008.10:g.12286373del	VUS	1 lab	4892e94f81
12:53567530 CSAD C>T	12	53567530	53567530	C	T	CSAD	c.-25G>A	NM_001244705.2	NP_001231634.1:p.?	NC_000012.11:g.53567530C>T	VUS	1 lab	4893fe506e
11:1775227 CTSD G>A	11	1775227	1775227	G	A	CTSD	c.969C>T	NM_001909.5	NP_001900.1:p.(Gly323=)	NC_000011.9:g.1775227G>A	VUS	1 lab	4894e16f5e
15:66996279 SMAD6 G>C	15	66996279	66996279	G	C	SMAD6	c.683G>C	NM_005585.5	NP_005576.3:p.(Arg228Pro)	NC_000015.9:g.66996279G>C	VUS	1 lab	48951bfbd4
19:10252778 DNMT1 C>T	19	10252778	10252778	C	T	DNMT1	c.3235G>A	NM_001130823.3	NP_001124295.1:p.(Glu1079Lys)	NC_000019.9:g.10252778C>T	VUS	1 lab	48977ad123
X:55057393 ALAS2 G>A	X	55057393	55057393	G	A	ALAS2	c.-34C>T	NM_000032.5	NP_000023.2:p.?	NC_000023.10:g.55057393G>A	(Likely) benign	1 lab	48977aef36
7:116199241 CAV1 G>C	7	116199241	116199241	G	C	CAV1	c.437G>C	NM_001753.5	NP_001744.2:p.(Arg146Pro)	NC_000007.13:g.116199241G>C	(Likely) benign	1 lab	4897ba097f
15:90190907 KIF7 T>G	15	90190907	90190907	T	G	KIF7	c.1480A>C	NM_198525.3	NP_940927.2:p.(Asn494His)	NC_000015.9:g.90190907T>G	(Likely) benign	1 lab	489d2caef3
11:34113599 CAPRIN1 A>C	11	34113599	34113599	A	C	CAPRIN1	c.1701A>C	NM_005898.5	NP_005889.3:p.(Gln567His)	NC_000011.9:g.34113599A>C	(Likely) benign	1 lab	489d7283ce
16:30976445 SETD1A G>C	16	30976445	30976445	G	C	SETD1A	c.1382G>C	NM_014712.3	NP_055527.1:p.(Arg461Pro)	NC_000016.9:g.30976445G>C	(Likely) benign	1 lab	489d72b744
1:880906 NOC2L G>A	1	880906	880906	G	A	NOC2L	c.2045C>T	NM_015658.4	NP_056473.3:p.(Ser682Leu)	NC_000001.10:g.880906G>A	(Likely) benign	1 lab	489dcce3a8
13:28498385 PDX1 G>T	13	28498385	28498385	G	T	PDX1	c.407-8G>T	NM_000209.4	NP_000200.1:p.?	NC_000013.10:g.28498385G>T	(Likely) benign	1 lab	489eccb22e
4:6302601 WFS1 G>A	4	6302601	6302601	G	A	WFS1	c.1079G>A	NM_006005.3	NP_005996.2:p.(Cys360Tyr)	NC_000004.11:g.6302601G>A	VUS	1 lab	489f64dd11
14:20869271 TEP1 C>T	14	20869271	20869271	C	T	TEP1	c.1421G>A	NM_007110.5	NP_009041.2:p.(Arg474Gln)	NC_000014.8:g.20869271C>T	(Likely) benign	1 lab	489fe64655
16:3778867 CREBBP T>A	16	3778867	3778867	T	A	CREBBP	c.6181A>T	NM_004380.3	NP_004371.2:p.(Ser2061Cys)	NC_000016.9:g.3778867T>A	VUS	1 lab	48a0d8d3b2
13:39588619 PROSER1 T>C	13	39588619	39588619	T	C	PROSER1	c.776-6A>G	NM_025138.5	NP_079414.3:p.?	NC_000013.10:g.39588619T>C	(Likely) benign	1 lab	48a178d955
20:35885269 GHRH AAAG>A	20	35885269	35885277	AAAG	A	GHRH	c.21_23del	NM_021081.6	NP_066567.1:p.(Phe8del)	NC_000020.10:g.35885275_35885277del	VUS	1 lab	48a1ad52d0
10:75673731 PLAU C>T	10	75673731	75673731	C	T	PLAU	c.630-7C>T	NM_001145031.3	NP_001138503.2:p.?	NC_000010.10:g.75673731C>T	(Likely) benign	1 lab	1f055f639b
5:141694213 SPRY4 T>C	5	141694213	141694213	T	C	SPRY4	c.461A>G	NM_001127496.3	NP_001120968.1:p.(Lys154Arg)	NC_000005.9:g.141694213T>C	(Likely) benign	1 lab	48a40130e1
8:144899529 PUF60 C>T	8	144899529	144899529	C	T	PUF60	c.1116G>A	NM_078480.3	NP_510965.1:p.(Met372Ile)	NC_000008.10:g.144899529C>T	(Likely) benign	1 lab	48a5ca2680
12:11214634 TAS2R46 A>ACC	12	11214634	11214636	A	ACC	TAS2R46	c.259_260insGG	NM_176887.2	NP_795368.2:p.(Val87GlyfsTer5)	NC_000012.11:g.11214635_11214636insCC	(Likely) benign	1 lab	48a6c589de
19:18975052 UPF1 G>A	19	18975052	18975052	G	A	UPF1	c.2849G>A	NM_002911.4	NP_002902.2:p.(Ser950Asn)	NC_000019.9:g.18975052G>A	(Likely) benign	1 lab	48ab44f550
X:152960025 SLC6A8 C>T	X	152960025	152960025	C	T	SLC6A8	c.1533C>T	NM_005629.4	NP_005620.1:p.(Ile511=)	NC_000023.10:g.152960025C>T	(Likely) benign	1 lab	1fc2f90a32
19:19042805 HOMER3 C>A	19	19042805	19042805	C	A	HOMER3	c.670G>T	NM_004838.4	NP_004829.3:p.(Ala224Ser)	NC_000019.9:g.19042805C>A	(Likely) benign	1 lab	48ac9d4e8d
9:37430535 GRHPR C>T	9	37430535	37430535	C	T	GRHPR	c.626C>T	NM_012203.2	NP_036335.1:p.(Ser209Phe)	NC_000009.11:g.37430535C>T	(Likely) pathogenic	1 lab	1fc42d8c5c
7:151859842 KMT2C G>GTTCTT	7	151859842	151859854	G	GTTCTT	KMT2C	c.10815_10819dup	NM_170606.3	NP_733751.2:p.(Thr3607LysfsTer25)	NC_000007.13:g.151859850_151859854dup	(Likely) pathogenic	1 lab	48adfc1f24
X:150817101 PASD1 A>G	X	150817101	150817101	A	G	PASD1	c.644A>G	NM_173493.3	NP_775764.2:p.(Gln215Arg)	NC_000023.10:g.150817101A>G	(Likely) benign	1 lab	48ae461be6
20:43034758 HNF4A T>C	20	43034758	43034758	T	C	HNF4A	c.176T>C	NM_000457.5	NP_000448.3:p.(Leu59Pro)	NC_000020.10:g.43034758T>C	(Likely) pathogenic	1 lab	48ae541b04
13:77900885 MYCBP2 G>T	13	77900885	77900885	G	T	MYCBP2	c.26C>A	NM_015057.5	NP_055872.4:p.(Ser9Tyr)	NC_000013.10:g.77900885G>T	VUS	1 lab	48b146b063
3:49833126 CDHR4 C>T	3	49833126	49833126	C	T	CDHR4	c.782G>A	NM_001007540.4	NP_001007541.2:p.(Arg261Gln)	NC_000003.11:g.49833126C>T	(Likely) benign	1 lab	48b2d5b628
18:60231819 ZCCHC2 C>T	18	60231819	60231819	C	T	ZCCHC2	c.1702C>T	NM_017742.6	NP_060212.4:p.(Arg568Trp)	NC_000018.9:g.60231819C>T	(Likely) benign	1 lab	48b41ee916
7:117243773 CFTR C>T	7	117243773	117243773	C	T	CFTR	c.2845C>T	NM_000492.3	NP_000483.3:p.(His949Tyr)	NC_000007.13:g.117243773C>T	(Likely) pathogenic	1 lab	1fc7662236
1:171526994 PRRC2C G>C	1	171526994	171526994	G	C	PRRC2C	c.5743G>C	NM_001387844.1	NP_001374773.1:p.(Ala1915Pro)	NC_000001.10:g.171526994G>C	(Likely) benign	1 lab	48b8329037
6:29600620 GABBR1 C>T	6	29600620	29600620	C	T	GABBR1	c.-1+7G>A	NM_001470.4	NP_001461.1:p.?	NC_000006.11:g.29600620C>T	(Likely) benign	1 lab	48b8be5ae9
10:1118129 WDR37 C>T	10	1118129	1118129	C	T	WDR37	c.34C>T	NM_014023.4	NP_054742.2:p.(Arg12Cys)	NC_000010.10:g.1118129C>T	(Likely) benign	1 lab	48ba3b1d7c
4:2632805 FAM193A C>T	4	2632805	2632805	C	T	FAM193A	c.947C>T	NM_001366318.2	NP_001353247.1:p.(Pro316Leu)	NC_000004.11:g.2632805C>T	VUS	1 lab	48bb306f9e
16:70512228 FCSK C>T	16	70512228	70512228	C	T	FCSK	c.2695C>T	NM_145059.3	NP_659496.2:p.(Arg899Cys)	NC_000016.9:g.70512228C>T	VUS	1 lab	48bc2e45bf
16:2810503 SRRM2 ATG>A	16	2810503	2810506	ATG	A	SRRM2	c.1032+5_1032+6del	NM_016333.4	NP_057417.3:p.?	NC_000016.9:g.2810505_2810506del	VUS	1 lab	48bd671115
1:149895738 SF3B4 G>T	1	149895738	149895738	G	T	SF3B4	c.1082C>A	NM_005850.5	NP_005841.1:p.(Pro361His)	NC_000001.10:g.149895738G>T	VUS	1 lab	1f069743d5
1:38304404 MTF1 G>C	1	38304404	38304404	G	C	MTF1	c.672C>G	NM_005955.3	NP_005946.2:p.(His224Gln)	NC_000001.10:g.38304404G>C	VUS	1 lab	48bed7ccbc
1:220269426 IARS2 C>CT	1	220269426	220269438	C	CT	IARS2	c.268-8dup	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220269438dup	(Likely) benign	1 lab	48c0377434
17:40692985 NAGLU A>G	17	40692985	40692985	A	G	NAGLU	c.782A>G	NM_000263.4	NP_000254.2:p.(Asn261Ser)	NC_000017.10:g.40692985A>G	VUS	1 lab	48c0f04e20
16:3789627 CREBBP C>A	16	3789627	3789627	C	A	CREBBP	c.4232G>T	NM_004380.3	NP_004371.2:p.(Gly1411Val)	NC_000016.9:g.3789627C>A	(Likely) pathogenic	1 lab	48c15b2260
1:35227396 GJB4 AC>A	1	35227396	35227397	AC	A	GJB4	c.542del	NM_153212.3	NP_694944.1:p.(Thr181ArgfsTer11)	NC_000001.10:g.35227397del	(Likely) benign	1 lab	48c24efe2c
1:144931392 PDE4DIP G>A	1	144931392	144931392	G	A	PDE4DIP	c.835-7571C>T	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144931392G>A	VUS	1 lab	48c2e6511c
14:36155818 RALGAPA1 C>G	14	36155818	36155818	C	G	RALGAPA1	c.4007G>C	NM_001346249.2	NP_001333178.1:p.(Gly1336Ala)	NC_000014.8:g.36155818C>G	VUS	1 lab	48c43e1d5b
5:118484463 DMXL1 G>T	5	118484463	118484463	G	T	DMXL1	c.2941G>T	NM_001290321.3	NP_001277250.1:p.(Ala981Ser)	NC_000005.9:g.118484463G>T	VUS	1 lab	48c464224d
15:75648381 MAN2C1 A>G	15	75648381	75648381	A	G	MAN2C1	c.2997-8T>C	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75648381A>G	(Likely) benign	1 lab	48c5870f34
1:35250427 GJB3 C>T	1	35250427	35250427	C	T	GJB3	c.64C>T	NM_024009.3	NP_076872.1:p.(Arg22Cys)	NC_000001.10:g.35250427C>T	VUS	1 lab	48c5e91ab6
1:27877429 AHDC1 C>T	1	27877429	27877429	C	T	AHDC1	c.1198G>A	NM_001371928.1	NP_001358857.1:p.(Gly400Arg)	NC_000001.10:g.27877429C>T	(Likely) benign	1 lab	48c61773da
7:156556465 LMBR1 T>C	7	156556465	156556465	T	C	LMBR1	c.448A>G	NM_022458.4	NP_071903.2:p.(Thr150Ala)	NC_000007.13:g.156556465T>C	VUS	1 lab	48c7836a3a
2:234675779 UGT1A1 A>G	2	234675779	234675779	A	G	UGT1A1	c.964A>G	NM_000463.3	NP_000454.1:p.(Ile322Val)	NC_000002.11:g.234675779A>G	VUS	1 lab	48c885faa4
14:64421517 SYNE2 G>A	14	64421517	64421517	G	A	SYNE2	c.671G>A	NM_182914.3	NP_878918.2:p.(Arg224Gln)	NC_000014.8:g.64421517G>A	VUS	1 lab	48c98ce486
16:2158485 PKD1 T>C	16	2158485	2158485	T	C	PKD1	c.6683A>G	NM_001009944.3	NP_001009944.3:p.(Tyr2228Cys)	NC_000016.9:g.2158485T>C	VUS	1 lab	48cab55202
16:2141532 PKD1 C>A	16	2141532	2141532	C	A	PKD1	c.11604G>T	NM_001009944.3	NP_001009944.3:p.(Thr3868=)	NC_000016.9:g.2141532C>A	(Likely) benign	1 lab	48cc0be1d2
6:73904238 KCNQ5 G>A	6	73904238	73904238	G	A	KCNQ5	c.1900G>A	NM_019842.4	NP_062816.2:p.(Gly634Ser)	NC_000006.11:g.73904238G>A	VUS	1 lab	48cda77fca
14:50251693 NEMF G>A	14	50251693	50251693	G	A	NEMF	c.3103C>T	NM_004713.6	NP_004704.3:p.(His1035Tyr)	NC_000014.8:g.50251693G>A	VUS	1 lab	48ce14a2de
15:29088241 GOLGA6L7 G>A	15	29088241	29088241	G	A	GOLGA6L7	c.1009C>T	NM_001365371.2	NP_001352300.1:p.(Gln337Ter)	NC_000015.9:g.29088241G>A	(Likely) benign	1 lab	48d0e7a288
18:42456692 SETBP1 C>T	18	42456692	42456692	C	T	SETBP1	c.540+7444C>T	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456692C>T	(Likely) pathogenic	1 lab	48d14dd7f3
16:88872475 CDT1 G>C	16	88872475	88872475	G	C	CDT1	c.879G>C	NM_030928.4	NP_112190.2:p.(Gln293His)	NC_000016.9:g.88872475G>C	VUS	1 lab	48d1a33497
20:18505579 SEC23B G>A	20	18505579	18505579	G	A	SEC23B	c.604G>A	NM_006363.6	NP_006354.2:p.(Asp202Asn)	NC_000020.10:g.18505579G>A	VUS	1 lab	48d2b16572
17:74729719 METTL23 GACAT>G	17	74729719	74729726	GACAT	G	METTL23	c.528_531del	NM_001080510.5	NP_001073979.3:p.(His176GlnfsTer28)	NC_000017.10:g.74729723_74729726del	VUS	1 lab	48d36e76e4
1:17295610 CROCC G>A	1	17295610	17295610	G	A	CROCC	c.5077-1G>A	NM_014675.5	NP_055490.4:p.?	NC_000001.10:g.17295610G>A	VUS	1 lab	48d407a273
15:56471495 RFX7 A>G	15	56471495	56471495	A	G	RFX7	c.168T>C	NM_022841.7	NP_073752.6:p.(Thr56=)	NC_000015.9:g.56471495A>G	(Likely) benign	1 lab	48d5b0a7db
9:101258792 GABBR2 C>T	9	101258792	101258792	C	T	GABBR2	c.635G>A	NM_005458.8	NP_005449.5:p.(Arg212Gln)	NC_000009.11:g.101258792C>T	(Likely) pathogenic	1 lab	48d7160893
6:31933632 SKIC2 C>T	6	31933632	31933632	C	T	SKIC2	c.2044C>T	NM_006929.5	NP_008860.4:p.(Arg682Cys)	NC_000006.11:g.31933632C>T	VUS	1 lab	48d833e701
2:127808409 BIN1 C>T	2	127808409	127808409	C	T	BIN1	c.1541G>A	NM_139343.3	NP_647593.1:p.(Arg514His)	NC_000002.11:g.127808409C>T	VUS	1 lab	48d8b3de39
16:30991282 SETD1A G>A	16	30991282	30991282	G	A	SETD1A	c.4175G>A	NM_014712.3	NP_055527.1:p.(Arg1392His)	NC_000016.9:g.30991282G>A	VUS	1 lab	48d8de2f56
20:43052733 HNF4A T>A	20	43052733	43052733	T	A	HNF4A	c.968T>A	NM_000457.5	NP_000448.3:p.(Ile323Asn)	NC_000020.10:g.43052733T>A	VUS	1 lab	48d95b1a2b
11:17418851 ABCC8 A>C	11	17418851	17418851	A	C	ABCC8	c.3877T>G	NM_000352.6	NP_000343.2:p.(Tyr1293Asp)	NC_000011.9:g.17418851A>C	VUS	1 lab	48de3c2a52
3:142266572 ATR G>T	3	142266572	142266572	G	T	ATR	c.3352C>A	NM_001184.4	NP_001175.2:p.(Leu1118Met)	NC_000003.11:g.142266572G>T	(Likely) benign	1 lab	48dee89094
16:51175660 SALL1 CT>C	16	51175660	51175661	CT	C	SALL1	c.472del	NM_002968.3	NP_002959.2:p.(Ser158AlafsTer25)	NC_000016.9:g.51175661del	VUS	1 lab	48e030e654
9:73736089 TRPM3 A>C	9	73736089	73736089	A	C	TRPM3	c.177+5T>G	NM_001366145.2	NP_001353074.1:p.?	NC_000009.11:g.73736089A>C	VUS	1 lab	48e077e2c8
12:121432182 HNF1A CT>C	12	121432182	121432183	CT	C	HNF1A	c.930del	NM_000545.8	NP_000536.6:p.(Ala311ProfsTer31)	NC_000012.11:g.121432183del	(Likely) pathogenic	1 lab	48e21cbefc
6:33411173 SYNGAP1 C>CGGTG	6	33411173	33411178	C	CGGTG	SYNGAP1	c.2846_2849dup	NM_006772.3	NP_006763.2:p.(His951TrpfsTer34)	NC_000006.11:g.33411175_33411178dup	(Likely) pathogenic	1 lab	48e3827e84
15:23891422 MAGEL2 G>C	15	23891422	23891422	G	C	MAGEL2	c.1468C>G	NM_019066.5	NP_061939.3:p.(Pro490Ala)	NC_000015.9:g.23891422G>C	(Likely) benign	1 lab	48e3aee509
19:1046239 ABCA7 C>G	19	1046239	1046239	C	G	ABCA7	c.1456C>G	NM_019112.4	NP_061985.2:p.(Pro486Ala)	NC_000019.9:g.1046239C>G	VUS	1 lab	48e452cbc5
2:241679731 KIF1A G>T	2	241679731	241679731	G	T	KIF1A	c.3800C>A	NM_001244008.2	NP_001230937.1:p.(Thr1267Asn)	NC_000002.11:g.241679731G>T	VUS	1 lab	48e485524e
12:402233 KDM5A C>T	12	402233	402233	C	T	KDM5A	c.4558G>A	NM_001042603.3	NP_001036068.1:p.(Gly1520Arg)	NC_000012.11:g.402233C>T	VUS	1 lab	48e50dace8
1:976110 AGRN G>A	1	976110	976110	G	A	AGRN	c.577G>A	NM_198576.4	NP_940978.2:p.(Ala193Thr)	NC_000001.10:g.976110G>A	(Likely) benign	1 lab	48e5bbe314
1:196577375 KCNT2 A>G	1	196577375	196577375	A	G	KCNT2	c.65T>C	NM_198503.5	NP_940905.2:p.(Leu22Pro)	NC_000001.10:g.196577375A>G	VUS	1 lab	1f0c82b5f0
17:36070609 HNF1B C>T	17	36070609	36070609	C	T	HNF1B	c.1108G>A	NM_000458.4	NP_000449.1:p.(Gly370Ser)	NC_000017.10:g.36070609C>T	(Likely) benign	1 lab	48e6e1193b
4:81967267 BMP3 G>C	4	81967267	81967267	G	C	BMP3	c.692G>C	NM_001201.5	NP_001192.4:p.(Arg231Thr)	NC_000004.11:g.81967267G>C	(Likely) benign	1 lab	48e7038382
5:79950438 DHFR G>A	5	79950438	79950438	G	A	DHFR	c.-130C>T	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950438G>A	VUS	1 lab	48e7a076a5
21:40717137 HMGN1 C>T	21	40717137	40717137	C	T	HMGN1	c.190G>A	NM_004965.7	NP_004956.5:p.(Glu64Lys)	NC_000021.8:g.40717137C>T	(Likely) benign	1 lab	48e9d77bff
9:133270701 HMCN2 G>T	9	133270701	133270701	G	T	HMCN2	c.10878G>T	NM_001291815.2	NP_001278744.1:p.(Lys3626Asn)	NC_000009.11:g.133270701G>T	(Likely) benign	1 lab	48ea5d90d7
1:240371624 FMN2 C>T	1	240371624	240371624	C	T	FMN2	c.3512C>T	NM_020066.5	NP_064450.3:p.(Ala1171Val)	NC_000001.10:g.240371624C>T	VUS	1 lab	48ebda47fa
5:118969907 FAM170A A>G	5	118969907	118969907	A	G	FAM170A	c.464A>G	NM_001367956.1	NP_001354885.1:p.(Gln155Arg)	NC_000005.9:g.118969907A>G	(Likely) benign	1 lab	48edccd60f
10:43597857 RET C>T	10	43597857	43597857	C	T	RET	c.405C>T	NM_020975.6	NP_066124.1:p.(Gly135=)	NC_000010.10:g.43597857C>T	(Likely) benign	1 lab	48f09c3a10
22:45943089 FBLN1 G>A	22	45943089	45943089	G	A	FBLN1	c.1441+5G>A	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45943089G>A	VUS	1 lab	48f256c032
5:60817228 ZSWIM6 A>G	5	60817228	60817228	A	G	ZSWIM6	c.1472A>G	NM_020928.2	NP_065979.1:p.(Asn491Ser)	NC_000005.9:g.60817228A>G	(Likely) benign	1 lab	48f257b54b
3:74351962 CNTN3 T>C	3	74351962	74351962	T	C	CNTN3	c.1669-4A>G	NM_020872.3	NP_065923.1:p.?	NC_000003.11:g.74351962T>C	VUS	1 lab	48f6d73b81
2:73868393 NAT8 C>G	2	73868393	73868393	C	G	NAT8	c.363G>C	NM_003960.4	NP_003951.3:p.(Met121Ile)	NC_000002.11:g.73868393C>G	(Likely) benign	1 lab	48f788501d
20:34785922 EPB41L1 G>C	20	34785922	34785922	G	C	EPB41L1	c.1627G>C	NM_012156.2	NP_036288.2:p.(Ala543Pro)	NC_000020.10:g.34785922G>C	(Likely) benign	1 lab	48f8ade5b6
4:6304145 WFS1 G>A	4	6304145	6304145	G	A	WFS1	c.2623G>A	NM_006005.3	NP_005996.2:p.(Val875Met)	NC_000004.11:g.6304145G>A	(Likely) benign	1 lab	48f91d8bdd
3:168861591 MECOM G>T	3	168861591	168861591	G	T	MECOM	c.405C>A	NM_004991.4	NP_004982.2:p.(Phe135Leu)	NC_000003.11:g.168861591G>T	(Likely) benign	1 lab	48f9f80637
2:179426569 TTN GTTTC>G	2	179426569	179426580	GTTTC	G	TTN	c.84286_84289del	NM_001267550.2	NP_001254479.2:p.(Glu28096ProfsTer8)	NC_000002.11:g.179426577_179426580del	(Likely) pathogenic	1 lab	1fc7fe5c8a
1:244217725 ZBTB18 G>A	1	244217725	244217725	G	A	ZBTB18	c.649G>A	NM_205768.3	NP_991331.1:p.(Ala217Thr)	NC_000001.10:g.244217725G>A	VUS	1 lab	48fd2c7498
16:27715275 KATNIP G>A	16	27715275	27715275	G	A	KATNIP	c.1345G>A	NM_015202.3	NP_056017.3:p.(Gly449Ser)	NC_000016.9:g.27715275G>A	(Likely) benign	1 lab	1fc863d77f
13:25840418 MTMR6 T>C	13	25840418	25840418	T	C	MTMR6	c.311A>G	NM_004685.5	NP_004676.3:p.(Tyr104Cys)	NC_000013.10:g.25840418T>C	VUS	1 lab	48fe9b66c0
6:85446566 TBX18 A>G	6	85446566	85446566	A	G	TBX18	c.1661T>C	NM_001080508.3	NP_001073977.1:p.(Phe554Ser)	NC_000006.11:g.85446566A>G	(Likely) benign	1 lab	48fffddd5b
14:51206049 NIN C>T	14	51206049	51206049	C	T	NIN	c.5605G>A	NM_020921.4	NP_065972.4:p.(Glu1869Lys)	NC_000014.8:g.51206049C>T	(Likely) benign	1 lab	49002719c4
11:35308311 SLC1A2 T>A	11	35308311	35308311	T	A	SLC1A2	c.1279A>T	NM_004171.4	NP_004162.2:p.(Thr427Ser)	NC_000011.9:g.35308311T>A	VUS	1 lab	4901bfce05
15:60850468 RORA A>C	15	60850468	60850468	A	C	RORA	c.197-26418T>G	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60850468A>C	VUS	1 lab	49035e6d0a
14:103478472 CDC42BPB CAA>C	14	103478472	103478475	CAA	C	CDC42BPB	c.227_228del	NM_006035.4	NP_006026.3:p.(Phe76Ter)	NC_000014.8:g.103478474_103478475del	VUS	1 lab	4904a892bc
5:251207 SDHA C>T	5	251207	251207	C	T	SDHA	c.1652C>T	NM_004168.4	NP_004159.2:p.(Thr551Met)	NC_000005.9:g.251207C>T	VUS	1 lab	49ce6d9887
6:170871046 TBP A>ACAGCAG	6	170871046	170871105	A	ACAGCAG	TBP	c.276_281dup	NM_003194.5	NP_003185.1:p.(Gln94_Gln95dup)	NC_000006.11:g.170871100_170871105dup	(Likely) benign	1 lab	1f11959568
20:44596175 ZNF335 C>CGGACGATGATG	20	44596175	44596177	C	CGGACGATGATG	ZNF335	c.912_913insCATCATCGTCC	NM_022095.4	NP_071378.1:p.(Asp305HisfsTer9)	NC_000020.10:g.44596176_44596177insGACGATGATGG	VUS	1 lab	490871e7d9
6:12718927 PHACTR1 A>G	6	12718927	12718927	A	G	PHACTR1	c.-46-4A>G	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.12718927A>G	VUS	1 lab	490886b714
X:51238846 NUDT11 T>C	X	51238846	51238846	T	C	NUDT11	c.451A>G	NM_018159.4	NP_060629.2:p.(Asn151Asp)	NC_000023.10:g.51238846T>C	VUS	1 lab	490bfea78b
19:31767644 TSHZ3 C>T	19	31767644	31767644	C	T	TSHZ3	c.3055G>A	NM_020856.4	NP_065907.2:p.(Ala1019Thr)	NC_000019.9:g.31767644C>T	(Likely) benign	1 lab	490ca44cc7
7:149571234 ATP6V0E2 T>A	7	149571234	149571234	T	A	ATP6V0E2	c.80T>A	NM_145230.4	NP_660265.3:p.(Phe27Tyr)	NC_000007.13:g.149571234T>A	VUS	1 lab	490caa66e0
16:1814434 MAPK8IP3 G>A	16	1814434	1814434	G	A	MAPK8IP3	c.2254G>A	NM_001318852.2	NP_001305781.1:p.(Ala752Thr)	NC_000016.9:g.1814434G>A	VUS	1 lab	490d12e373
13:21562475 LATS2 C>T	13	21562475	21562475	C	T	LATS2	c.1444G>A	NM_014572.3	NP_055387.2:p.(Glu482Lys)	NC_000013.10:g.21562475C>T	(Likely) benign	1 lab	490d82bd1a
4:186336474 UFSP2 A>C	4	186336474	186336474	A	C	UFSP2	c.519T>G	NM_018359.5	NP_060829.2:p.(Ile173Met)	NC_000004.11:g.186336474A>C	(Likely) benign	1 lab	490e54f4f1
12:3040218 TULP3 G>A	12	3040218	3040218	G	A	TULP3	c.508G>A	NM_003324.5	NP_003315.2:p.(Gly170Ser)	NC_000012.11:g.3040218G>A	(Likely) benign	1 lab	490ee83dc8
X:153055671 IDH3G A>C	X	153055671	153055671	A	C	IDH3G	c.212T>G	NM_004135.4	NP_004126.1:p.(Leu71Arg)	NC_000023.10:g.153055671A>C	(Likely) benign	1 lab	490fea5eb4
2:152536242 NEB G>A	2	152536242	152536242	G	A	NEB	c.3248C>T	NM_001164508.2	NP_001157980.2:p.(Ala1083Val)	NC_000002.11:g.152536242G>A	(Likely) benign	1 lab	4910bb5f32
3:71484517 FOXP1 G>A	3	71484517	71484517	G	A	FOXP1	c.-168+58060C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71484517G>A	(Likely) benign	1 lab	49115067dc
X:73524501 ZCCHC13 G>C	X	73524501	73524501	G	C	ZCCHC13	c.400G>C	NM_203303.3	NP_976048.1:p.(Gly134Arg)	NC_000023.10:g.73524501G>C	VUS	1 lab	4911ab7e4b
11:16068146 SOX6 C>G	11	16068146	16068146	C	G	SOX6	c.1537G>C	NM_001367873.1	NP_001354802.1:p.(Glu513Gln)	NC_000011.9:g.16068146C>G	VUS	1 lab	4913b6122b
4:104066847 CENPE T>A	4	104066847	104066847	T	A	CENPE	c.4414-9A>T	NM_001813.3	NP_001804.2:p.?	NC_000004.11:g.104066847T>A	(Likely) benign	1 lab	4917769029
2:60688320 BCL11A G>A	2	60688320	60688320	G	A	BCL11A	c.1727C>T	NM_022893.4	NP_075044.2:p.(Ala576Val)	NC_000002.11:g.60688320G>A	VUS	1 lab	491978362a
2:100209980 AFF3 C>T	2	100209980	100209980	C	T	AFF3	c.2143G>A	NM_001386135.1	NP_001373064.1:p.(Gly715Arg)	NC_000002.11:g.100209980C>T	(Likely) benign	1 lab	4919d7b336
10:13698780 FRMD4A C>T	10	13698780	13698780	C	T	FRMD4A	c.2809G>A	NM_018027.5	NP_060497.3:p.(Ala937Thr)	NC_000010.10:g.13698780C>T	VUS	1 lab	491a1f18b5
19:13319778 CACNA1A G>A	19	13319778	13319778	G	A	CACNA1A	c.6572C>T	NM_001127222.2	NP_001120694.1:p.(Pro2191Leu)	NC_000019.9:g.13319778G>A	(Likely) benign	1 lab	491ad1ed89
11:70332809 SHANK2 C>T	11	70332809	70332809	C	T	SHANK2	c.3589G>A	NM_012309.5	NP_036441.2:p.(Gly1197Ser)	NC_000011.9:g.70332809C>T	VUS	1 lab	491bc263b3
7:21906089 DNAH11 C>T	7	21906089	21906089	C	T	DNAH11	c.11498C>T	NM_001277115.2	NP_001264044.1:p.(Ala3833Val)	NC_000007.13:g.21906089C>T	VUS	1 lab	491ca465a2
4:6290725 WFS1 C>G	4	6290725	6290725	C	G	WFS1	c.327C>G	NM_006005.3	NP_005996.2:p.(His109Gln)	NC_000004.11:g.6290725C>G	VUS	1 lab	491ed35a88
2:73959318 TPRKB A>G	2	73959318	73959318	A	G	TPRKB	c.236T>C	NM_016058.5	NP_057142.1:p.(Ile79Thr)	NC_000002.11:g.73959318A>G	VUS	1 lab	492351db31
7:86415742 GRM3 T>G	7	86415742	86415742	T	G	GRM3	c.634T>G	NM_000840.3	NP_000831.2:p.(Tyr212Asp)	NC_000007.13:g.86415742T>G	VUS	1 lab	492457b4de
2:197086985 HECW2 G>T	2	197086985	197086985	G	T	HECW2	c.4096C>A	NM_001348768.2	NP_001335697.1:p.(His1366Asn)	NC_000002.11:g.197086985G>T	(Likely) benign	1 lab	4924e5381e
1:155408578 ASH1L A>G	1	155408578	155408578	A	G	ASH1L	c.5368T>C	NM_018489.3	NP_060959.2:p.(Cys1790Arg)	NC_000001.10:g.155408578A>G	(Likely) benign	1 lab	4926be98f2
11:1272059 MUC5B G>C	11	1272059	1272059	G	C	MUC5B	c.13949G>C	NM_002458.3	NP_002449.2:p.(Arg4650Thr)	NC_000011.9:g.1272059G>C	(Likely) benign	1 lab	49285b11eb
19:21117760 ZNF85 A>G	19	21117760	21117760	A	G	ZNF85	c.136A>G	NM_003429.5	NP_003420.2:p.(Thr46Ala)	NC_000019.9:g.21117760A>G	VUS	1 lab	49296d99d0
X:20185821 RPS6KA3 C>T	X	20185821	20185821	C	T	RPS6KA3	c.1488G>A	NM_004586.3	NP_004577.1:p.(Met496Ile)	NC_000023.10:g.20185821C>T	VUS	1 lab	4929f2643b
1:228345458 GJC2 CTATGA>C	1	228345458	228345463	CTATGA	C	GJC2	c.-1_4del	NM_020435.4	NP_065168.2:p.?	NC_000001.10:g.228345459_228345463del	VUS	1 lab	492b88df07
16:2097796 NTHL1 G>C	16	2097796	2097796	G	C	NTHL1	c.29C>G	NM_002528.7	NP_002519.2:p.(Thr10Ser)	NC_000016.9:g.2097796G>C	VUS	1 lab	492b9cf49f
1:53676305 CPT2 C>T	1	53676305	53676305	C	T	CPT2	c.959C>T	NM_000098.3	NP_000089.1:p.(Ser320Leu)	NC_000001.10:g.53676305C>T	VUS	1 lab	492c957196
22:19751755 TBX1 C>T	22	19751755	19751755	C	T	TBX1	c.617C>T	NM_001379200.1	NP_001366129.1:p.(Pro206Leu)	NC_000022.10:g.19751755C>T	VUS	1 lab	492e17a8a9
9:140729392 EHMT1 C>T	9	140729392	140729392	C	T	EHMT1	c.3884C>T	NM_024757.5	NP_079033.4:p.(Ala1295Val)	NC_000009.11:g.140729392C>T	VUS	1 lab	493027360f
3:13670791 FBLN2 C>T	3	13670791	13670791	C	T	FBLN2	c.2841C>T	NM_001004019.2	NP_001004019.1:p.(Ile947=)	NC_000003.11:g.13670791C>T	(Likely) benign	1 lab	493060ac34
12:113614861 DDX54 C>T	12	113614861	113614861	C	T	DDX54	c.652G>A	NM_024072.4	NP_076977.3:p.(Asp218Asn)	NC_000012.11:g.113614861C>T	VUS	1 lab	49313a7036
11:66291222 BBS1 C>T	11	66291222	66291222	C	T	BBS1	c.979C>T	NM_024649.5	NP_078925.3:p.(Pro327Ser)	NC_000011.9:g.66291222C>T	(Likely) benign	1 lab	4933567b5c
17:78188570 SGSH C>T	17	78188570	78188570	C	T	SGSH	c.356-6G>A	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78188570C>T	(Likely) benign	1 lab	4933ddd82f
19:50098515 PRR12 A>T	19	50098515	50098515	A	T	PRR12	c.923A>T	NM_020719.3	NP_065770.1:p.(His308Leu)	NC_000019.9:g.50098515A>T	(Likely) benign	1 lab	493421181f
7:92731679 SAMD9 ATTGT>A	7	92731679	92731686	ATTGT	A	SAMD9	c.3728_3731del	NM_017654.4	NP_060124.2:p.(Asn1243MetfsTer5)	NC_000007.13:g.92731683_92731686del	VUS	1 lab	4935f4494f
19:52543786 ZNF432 C>G	19	52543786	52543786	C	G	ZNF432	c.193G>C	NM_014650.4	NP_055465.1:p.(Glu65Gln)	NC_000019.9:g.52543786C>G	VUS	1 lab	4936f21d8b
15:90216458 PLIN1 C>T	15	90216458	90216458	C	T	PLIN1	c.233G>A	NM_002666.5	NP_002657.3:p.(Arg78His)	NC_000015.9:g.90216458C>T	VUS	1 lab	4937971885
X:47422376 ARAF C>T	X	47422376	47422376	C	T	ARAF	c.10C>T	NM_001654.5	NP_001645.1:p.(Pro4Ser)	NC_000023.10:g.47422376C>T	(Likely) benign	1 lab	4937aeceeb
6:117215154 RFX6 C>T	6	117215154	117215154	C	T	RFX6	c.571C>T	NM_173560.4	NP_775831.2:p.(His191Tyr)	NC_000006.11:g.117215154C>T	VUS	1 lab	493839ac40
7:128441556 CCDC136 G>C	7	128441556	128441556	G	C	CCDC136	c.663G>C	NM_022742.5	NP_073579.5:p.(Gly221=)	NC_000007.13:g.128441556G>C	VUS	1 lab	493a4398a7
14:102493763 DYNC1H1 G>A	14	102493763	102493763	G	A	DYNC1H1	c.8930G>A	NM_001376.4	NP_001367.2:p.(Arg2977Gln)	NC_000014.8:g.102493763G>A	(Likely) pathogenic	1 lab	1fcec790bc
12:53004410 KRT73 G>A	12	53004410	53004410	G	A	KRT73	c.1320C>T	NM_175068.3	NP_778238.1:p.(Gly440=)	NC_000012.11:g.53004410G>A	(Likely) benign	1 lab	493c0c6655
19:3662007 PIP5K1C G>T	19	3662007	3662007	G	T	PIP5K1C	c.220-8C>A	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3662007G>T	(Likely) benign	1 lab	493c44955b
19:18900763 COMP G>A	19	18900763	18900763	G	A	COMP	c.378C>T	NM_000095.3	NP_000086.2:p.(Thr126=)	NC_000019.9:g.18900763G>A	(Likely) benign	1 lab	493c7c89da
6:152763195 SYNE1 A>G	6	152763195	152763195	A	G	SYNE1	c.4008+15T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152763195A>G	(Likely) benign	1 lab	1fcf6eadac
11:87017041 TMEM135 C>A	11	87017041	87017041	C	A	TMEM135	c.762C>A	NM_022918.4	NP_075069.3:p.(Cys254Ter)	NC_000011.9:g.87017041C>A	VUS	1 lab	493cddfe0a
1:247599442 NLRP3 G>C	1	247599442	247599442	G	C	NLRP3	c.2663G>C	NM_001243133.2	NP_001230062.1:p.(Gly888Ala)	NC_000001.10:g.247599442G>C	VUS	1 lab	493ce2cb4b
7:53103606 POM121L12 G>A	7	53103606	53103606	G	A	POM121L12	c.242G>A	NM_182595.4	NP_872401.3:p.(Arg81Gln)	NC_000007.13:g.53103606G>A	(Likely) benign	1 lab	4940869568
6:157517321 ARID1B T>C	6	157517321	157517321	T	C	ARID1B	c.4254T>C	NM_001374828.1	NP_001361757.1:p.(Phe1418=)	NC_000006.11:g.157517321T>C	(Likely) benign	1 lab	494279ff45
12:6443280 TNFRSF1A A>C	12	6443280	6443280	A	C	TNFRSF1A	c.170T>G	NM_001065.3	NP_001056.1:p.(Ile57Ser)	NC_000012.11:g.6443280A>C	VUS	1 lab	1fd09d9ea2
2:196822079 DNAH7 C>A	2	196822079	196822079	C	A	DNAH7	c.2984G>T	NM_018897.3	NP_061720.2:p.(Ser995Ile)	NC_000002.11:g.196822079C>A	VUS	1 lab	494ae89f90
3:55513456 WNT5A T>C	3	55513456	55513456	T	C	WNT5A	c.277A>G	NM_003392.7	NP_003383.4:p.(Ile93Val)	NC_000003.11:g.55513456T>C	(Likely) benign	1 lab	494c787f92
12:47172417 SLC38A4 A>G	12	47172417	47172417	A	G	SLC38A4	c.860T>C	NM_018018.5	NP_060488.2:p.(Met287Thr)	NC_000012.11:g.47172417A>G	VUS	1 lab	494c7a25c2
8:116617141 TRPS1 T>C	8	116617141	116617141	T	C	TRPS1	c.1055A>G	NM_014112.5	NP_054831.2:p.(Asn352Ser)	NC_000008.10:g.116617141T>C	VUS	1 lab	494cd55aab
17:8452087 MYH10 C>A	17	8452087	8452087	C	A	MYH10	c.938G>T	NM_001256012.3	NP_001242941.1:p.(Gly313Val)	NC_000017.10:g.8452087C>A	(Likely) benign	1 lab	494d18bc92
11:108124755 ATM T>A	11	108124755	108124755	T	A	ATM	c.2113T>A	NM_000051.4	NP_000042.3:p.(Tyr705Asn)	NC_000011.9:g.108124755T>A	VUS	1 lab	494fa66ede
12:120208711 CIT G>A	12	120208711	120208711	G	A	CIT	c.2086C>T	NM_001206999.2	NP_001193928.1:p.(Arg696Cys)	NC_000012.11:g.120208711G>A	VUS	1 lab	49500e1761
13:39265913 FREM2 T>C	13	39265913	39265913	T	C	FREM2	c.4432T>C	NM_207361.6	NP_997244.4:p.(Ser1478Pro)	NC_000013.10:g.39265913T>C	VUS	1 lab	4950c0bc4b
16:89259999 CDH15 C>T	16	89259999	89259999	C	T	CDH15	c.1977C>T	NM_004933.3	NP_004924.1:p.(Gly659=)	NC_000016.9:g.89259999C>T	VUS	1 lab	4954677684
1:225195245 DNAH14 A>G	1	225195245	225195245	A	G	DNAH14	c.1106A>G	NM_001367479.1	NP_001354408.1:p.(Lys369Arg)	NC_000001.10:g.225195245A>G	VUS	1 lab	4954d40ba1
15:41228998 DLL4 T>A	15	41228998	41228998	T	A	DLL4	c.1813T>A	NM_019074.4	NP_061947.1:p.(Cys605Ser)	NC_000015.9:g.41228998T>A	(Likely) benign	1 lab	4954f5dad3
17:7756309 KDM6B G>A	17	7756309	7756309	G	A	KDM6B	c.4611-9G>A	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7756309G>A	(Likely) benign	1 lab	49556f0f77
6:21595626 SOX4 C>A	6	21595626	21595626	C	A	SOX4	c.861C>A	NM_003107.3	NP_003098.1:p.(His287Gln)	NC_000006.11:g.21595626C>A	VUS	1 lab	1f16360892
17:39742617 KRT14 GCA>G	17	39742617	39742619	GCA	G	KRT14	c.468_469del	NM_000526.5	NP_000517.3:p.(Ala157Ter)	NC_000017.10:g.39742618_39742619del	VUS	1 lab	1f195f7642
14:93709388 BTBD7 C>A	14	93709388	93709388	C	A	BTBD7	c.2630G>T	NM_001002860.4	NP_001002860.2:p.(Gly877Val)	NC_000014.8:g.93709388C>A	VUS	1 lab	49599cef6a
10:96030265 PLCE1 G>A	10	96030265	96030265	G	A	PLCE1	c.4412G>A	NM_016341.4	NP_057425.3:p.(Arg1471His)	NC_000010.10:g.96030265G>A	VUS	1 lab	495a14e71e
16:53672328 RPGRIP1L T>C	16	53672328	53672328	T	C	RPGRIP1L	c.2959-5A>G	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53672328T>C	(Likely) benign	1 lab	495b3bb059
19:54675795 TMC4 C>T	19	54675795	54675795	C	T	TMC4	c.137G>A	NM_144686.4	NP_653287.2:p.(Arg46Gln)	NC_000019.9:g.54675795C>T	(Likely) benign	1 lab	495bd35319
16:30740333 SRCAP A>G	16	30740333	30740333	A	G	SRCAP	c.5705A>G	NM_006662.3	NP_006653.2:p.(Glu1902Gly)	NC_000016.9:g.30740333A>G	(Likely) benign	1 lab	495c0988a1
10:20106129 PLXDC2 G>A	10	20106129	20106129	G	A	PLXDC2	c.112+9G>A	NM_032812.9	NP_116201.7:p.?	NC_000010.10:g.20106129G>A	(Likely) benign	1 lab	495c5903a5
11:112099316 PTS G>T	11	112099316	112099316	G	T	PTS	c.84-1G>T	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099316G>T	(Likely) benign	1 lab	495c9dd455
16:89599037 SPG7 AATGG>A	16	89599037	89599045	AATGG	A	SPG7	c.1322_1324+1del	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89599042_89599045del	(Likely) pathogenic	1 lab	495cb55c85
1:155870189 RIT1 G>C	1	155870189	155870189	G	C	RIT1	c.650C>G	NM_006912.6	NP_008843.1:p.(Ser217Ter)	NC_000001.10:g.155870189G>C	VUS	1 lab	1f1ea13273
22:50279343 ZBED4 A>G	22	50279343	50279343	A	G	ZBED4	c.2033A>G	NM_014838.3	NP_055653.2:p.(Asn678Ser)	NC_000022.10:g.50279343A>G	VUS	1 lab	495e8617d1
12:7053022 RNU7-1 C>TT	12	7053022	7053022	C	TT	RNU7-1	n.44delinsTT	NR_023317.1		NC_000012.11:g.7053022delinsTT	VUS	1 lab	1f201a4b39
1:103463868 COL11A1 G>A	1	103463868	103463868	G	A	COL11A1	c.2194C>T	NM_001854.4	NP_001845.3:p.(Pro732Ser)	NC_000001.10:g.103463868G>A	VUS	1 lab	495ff609fd
19:4028841 PIAS4 G>A	19	4028841	4028841	G	A	PIAS4	c.796G>A	NM_015897.4	NP_056981.2:p.(Gly266Ser)	NC_000019.9:g.4028841G>A	(Likely) benign	1 lab	496292f0d4
3:111264012 CD96 G>A	3	111264012	111264012	G	A	CD96	c.181G>A	NM_005816.5	NP_005807.1:p.(Val61Ile)	NC_000003.11:g.111264012G>A	(Likely) benign	1 lab	4962fd488f
X:132092479 HS6ST2 C>A	X	132092479	132092479	C	A	HS6ST2	c.152G>T	NM_001394073.1	NP_001381002.1:p.(Arg51Leu)	NC_000023.10:g.132092479C>A	(Likely) benign	1 lab	49632077b8
2:202498131 TMEM237 T>C	2	202498131	202498131	T	C	TMEM237	c.298A>G	NM_001044385.3	NP_001037850.1:p.(Lys100Glu)	NC_000002.11:g.202498131T>C	(Likely) benign	1 lab	4963fdc564
9:12704725 TYRP1 C>T	9	12704725	12704725	C	T	TYRP1	c.1261+20C>T	NM_000550.3	NP_000541.1:p.?	NC_000009.11:g.12704725C>T	(Likely) benign	1 lab	1f21c3fe93
19:42806407 PAFAH1B3 C>T	19	42806407	42806407	C	T	PAFAH1B3	c.55G>A	NM_002573.4	NP_002564.1:p.(Gly19Ser)	NC_000019.9:g.42806407C>T	VUS	1 lab	49640d0b2e
9:34648398 GALT G>C	9	34648398	34648398	G	C	GALT	c.632G>C	NM_000155.4	NP_000146.2:p.(Ser211Thr)	NC_000009.11:g.34648398G>C	VUS	1 lab	49dc911595
22:42610610 TCF20 G>C	22	42610610	42610610	G	C	TCF20	c.702C>G	NM_001378418.1	NP_001365347.1:p.(His234Gln)	NC_000022.10:g.42610610G>C	(Likely) benign	1 lab	49669694ef
12:121437078 HNF1A C>A	12	121437078	121437078	C	A	HNF1A	c.1509C>A	NM_000545.8	NP_000536.6:p.(Tyr503Ter)	NC_000012.11:g.121437078C>A	(Likely) pathogenic	1 lab	4966d8d4c6
11:57367768 SERPING1 C>T	11	57367768	57367768	C	T	SERPING1	c.468C>T	NM_000062.2	NP_000053.2:p.(Ala156=)	NC_000011.9:g.57367768C>T	(Likely) benign	1 lab	1fd17ec6ee
2:71827881 DYSF G>A	2	71827881	71827881	G	A	DYSF	c.3806G>A	NM_001130987.2	NP_001124459.1:p.(Arg1269Gln)	NC_000002.11:g.71827881G>A	(Likely) benign	1 lab	4968551532
6:42966826 PPP2R5D G>A	6	42966826	42966826	G	A	PPP2R5D	c.106-7375G>A	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42966826G>A	(Likely) benign	1 lab	4968b40699
2:44559717 PREPL T>C	2	44559717	44559717	T	C	PREPL	c.967A>G	NM_001171613.2	NP_001165084.1:p.(Ile323Val)	NC_000002.11:g.44559717T>C	VUS	1 lab	496992867a
12:49438210 KMT2D G>GT	12	49438210	49438216	G	GT	KMT2D	c.5058dup	NM_003482.4	NP_003473.3:p.(Arg1687ThrfsTer4)	NC_000012.11:g.49438216dup	(Likely) pathogenic	1 lab	4969bd5e05
15:42701989 CAPN3 T>C	15	42701989	42701989	T	C	CAPN3	c.1997T>C	NM_000070.3	NP_000061.1:p.(Met666Thr)	NC_000015.9:g.42701989T>C	VUS	1 lab	496bbdde32
8:116631724 TRPS1 G>C	8	116631724	116631724	G	C	TRPS1	c.601C>G	NM_014112.5	NP_054831.2:p.(Gln201Glu)	NC_000008.10:g.116631724G>C	(Likely) benign	1 lab	496d31b987
15:64005783 HERC1 C>A	15	64005783	64005783	C	A	HERC1	c.4232G>T	NM_003922.4	NP_003913.3:p.(Gly1411Val)	NC_000015.9:g.64005783C>A	(Likely) benign	1 lab	496da2430b
15:34014994 RYR3 G>A	15	34014994	34014994	G	A	RYR3	c.6698G>A	NM_001036.6	NP_001027.3:p.(Arg2233Gln)	NC_000015.9:g.34014994G>A	VUS	1 lab	496eca586a
2:220424055 OBSL1 C>T	2	220424055	220424055	C	T	OBSL1	c.3118G>A	NM_015311.3	NP_056126.1:p.(Asp1040Asn)	NC_000002.11:g.220424055C>T	VUS	1 lab	4970fcb92b
18:2769746 SMCHD1 G>T	18	2769746	2769746	G	T	SMCHD1	c.4774G>T	NM_015295.3	NP_056110.2:p.(Val1592Leu)	NC_000018.9:g.2769746G>T	(Likely) benign	1 lab	4971257364
3:196202160 RNF168 A>G	3	196202160	196202160	A	G	RNF168	c.704T>C	NM_152617.4	NP_689830.2:p.(Phe235Ser)	NC_000003.11:g.196202160A>G	(Likely) benign	1 lab	497183e304
X:48682654 HDAC6 A>G	X	48682654	48682654	A	G	HDAC6	c.3529A>G	NM_006044.4	NP_006035.2:p.(Ile1177Val)	NC_000023.10:g.48682654A>G	(Likely) benign	1 lab	497194b61a
21:38128886 HLCS G>A	21	38128886	38128886	G	A	HLCS	c.2407C>T	NM_001352514.2	NP_001339443.1:p.(Pro803Ser)	NC_000021.8:g.38128886G>A	VUS	1 lab	4971d19ac4
17:27068454 NEK8 A>C	17	27068454	27068454	A	C	NEK8	c.1915A>C	NM_178170.3	NP_835464.1:p.(Lys639Gln)	NC_000017.10:g.27068454A>C	VUS	1 lab	49755f0bd7
2:232879671 DIS3L2 C>T	2	232879671	232879671	C	T	DIS3L2	c.34C>T	NM_152383.5	NP_689596.4:p.(Pro12Ser)	NC_000002.11:g.232879671C>T	(Likely) benign	1 lab	4975c2221b
16:3795292 CREBBP G>T	16	3795292	3795292	G	T	CREBBP	c.3900C>A	NM_004380.3	NP_004371.2:p.(Ile1300=)	NC_000016.9:g.3795292G>T	(Likely) benign	1 lab	4976478cb1
15:49089640 CEP152 C>G	15	49089640	49089640	C	G	CEP152	c.398G>C	NM_001194998.2	NP_001181927.1:p.(Ser133Thr)	NC_000015.9:g.49089640C>G	(Likely) benign	1 lab	4983257af2
10:89481497 PAPSS2 G>A	10	89481497	89481497	G	A	PAPSS2	c.866-16G>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89481497G>A	(Likely) benign	1 lab	49771420e7
5:118837739 HSD17B4 C>T	5	118837739	118837739	C	T	HSD17B4	c.1213C>T	NM_000414.4	NP_000405.1:p.(Leu405Phe)	NC_000005.9:g.118837739C>T	VUS	1 lab	4979d57f78
19:3759730 APBA3 G>A	19	3759730	3759730	G	A	APBA3	c.533C>T	NM_004886.4	NP_004877.1:p.(Thr178Met)	NC_000019.9:g.3759730G>A	VUS	1 lab	497ad2fb3c
1:111959084 OVGP1 TA>T	1	111959084	111959088	TA	T	OVGP1	c.1021-5del	NM_002557.4	NP_002548.3:p.?	NC_000001.10:g.111959088del	(Likely) benign	1 lab	497b5eb6ad
16:72992319 ZFHX3 C>A	16	72992319	72992319	C	A	ZFHX3	c.1726G>T	NM_006885.4	NP_008816.3:p.(Gly576Cys)	NC_000016.9:g.72992319C>A	VUS	1 lab	497b99a89a
15:54306108 UNC13C C>T	15	54306108	54306108	C	T	UNC13C	c.1008C>T	NM_001080534.3	NP_001074003.1:p.(Ser336=)	NC_000015.9:g.54306108C>T	(Likely) benign	1 lab	497d2c7da1
X:153135507 L1CAM A>AT	X	153135507	153135508	A	AT	L1CAM	c.991+3dup	NM_001278116.2	NP_001265045.1:p.?	NC_000023.10:g.153135508dup	VUS	1 lab	497d4c18a8
2:121736074 GLI2 C>T	2	121736074	121736074	C	T	GLI2	c.1382C>T	NM_001374353.1	NP_001361282.1:p.(Thr461Met)	NC_000002.11:g.121736074C>T	(Likely) benign	1 lab	497dab1193
16:29996745 TAOK2 G>A	16	29996745	29996745	G	A	TAOK2	c.1634G>A	NM_016151.4	NP_057235.2:p.(Arg545Gln)	NC_000016.9:g.29996745G>A	VUS	1 lab	497f2056dd
9:140637932 EHMT1 G>A	9	140637932	140637932	G	A	EHMT1	c.933G>A	NM_024757.5	NP_079033.4:p.(Thr311=)	NC_000009.11:g.140637932G>A	(Likely) benign	1 lab	497f960913
11:70506024 SHANK2 G>A	11	70506024	70506024	G	A	SHANK2	c.1970C>T	NM_012309.5	NP_036441.2:p.(Pro657Leu)	NC_000011.9:g.70506024G>A	VUS	1 lab	49826000c1
11:76905550 MYO7A C>T	11	76905550	76905550	C	T	MYO7A	c.4304C>T	NM_000260.4	NP_000251.3:p.(Ala1435Val)	NC_000011.9:g.76905550C>T	VUS	1 lab	498570e1c5
X:12903875 TLR7 C>T	X	12903875	12903875	C	T	TLR7	c.248C>T	NM_016562.4	NP_057646.1:p.(Ala83Val)	NC_000023.10:g.12903875C>T	(Likely) benign	1 lab	4985821777
9:135946688 CEL G>A	9	135946688	135946688	G	A	CEL	c.1799G>A	NM_001807.6	NP_001798.3:p.(Gly600Glu)	NC_000009.11:g.135946688G>A	(Likely) benign	1 lab	4985854831
19:11150142 SMARCA4 AG>A	19	11150142	11150144	AG	A	SMARCA4	c.4171-1839del	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11150144del	(Likely) benign	1 lab	49870e0748
14:95562641 DICER1 G>A	14	95562641	95562641	G	A	DICER1	c.4616C>T	NM_177438.3	NP_803187.1:p.(Thr1539Met)	NC_000014.8:g.95562641G>A	VUS	1 lab	498723773a
11:65978623 PACS1 C>T	11	65978623	65978623	C	T	PACS1	c.553C>T	NM_018026.4	NP_060496.2:p.(Arg185Ter)	NC_000011.9:g.65978623C>T	VUS	1 lab	4987448a4a
22:51154151 SHANK3 C>T	22	51154151	51154151	C	T	SHANK3	c.2545C>T	NM_001372044.2	NP_001358973.1:p.(Arg849Trp)	NC_000022.10:g.51154151C>T	(Likely) benign	1 lab	49877a82c4
10:105926425 CFAP43 G>A	10	105926425	105926425	G	A	CFAP43	c.2860C>T	NM_025145.7	NP_079421.5:p.(Arg954Cys)	NC_000010.10:g.105926425G>A	VUS	1 lab	498944d89f
3:10089749 FANCD2 T>C	3	10089749	10089749	T	C	FANCD2	c.1413+14T>C	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10089749T>C	(Likely) benign	1 lab	1f24a87383
11:108164054 ATM G>A	11	108164054	108164054	G	A	ATM	c.4626G>A	NM_000051.4	NP_000042.3:p.(Leu1542=)	NC_000011.9:g.108164054G>A	(Likely) benign	1 lab	498e42fe1e
15:43242454 UBR1 T>C	15	43242454	43242454	T	C	UBR1	c.5108+6A>G	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43242454T>C	(Likely) benign	1 lab	498e48c204
1:1273609 DVL1 T>TGG	1	1273609	1273610	T	TGG	DVL1	c.1507+39_1507+40insCC	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1273609_1273610insGG	VUS	1 lab	498e5ba5ef
3:9979254 CRELD1 G>A	3	9979254	9979254	G	A	CRELD1	c.266G>A	NM_001077415.3	NP_001070883.2:p.(Arg89His)	NC_000003.11:g.9979254G>A	VUS	1 lab	498ea7e3f5
19:31770463 TSHZ3 C>A	19	31770463	31770463	C	A	TSHZ3	c.236G>T	NM_020856.4	NP_065907.2:p.(Ser79Ile)	NC_000019.9:g.31770463C>A	VUS	1 lab	498f7184f4
17:41606535 ETV4 G>A	17	41606535	41606535	G	A	ETV4	c.1198C>T	NM_001079675.5	NP_001073143.1:p.(Arg400Ter)	NC_000017.10:g.41606535G>A	VUS	1 lab	4991df5f2f
18:33726314 ELP2 G>A	18	33726314	33726314	G	A	ELP2	c.1095G>A	NM_018255.4	NP_060725.1:p.(Leu365=)	NC_000018.9:g.33726314G>A	(Likely) benign	1 lab	49932b702c
2:166898865 SCN1A C>T	2	166898865	166898865	C	T	SCN1A	c.2113G>A	NM_001165963.4	NP_001159435.1:p.(Glu705Lys)	NC_000002.11:g.166898865C>T	(Likely) benign	1 lab	4993a4d2a7
2:215645471 BARD1 G>A	2	215645471	215645471	G	A	BARD1	c.1127C>T	NM_000465.4	NP_000456.2:p.(Ser376Leu)	NC_000002.11:g.215645471G>A	VUS	1 lab	4993f36d33
21:47404284 COL6A1 G>A	21	47404284	47404284	G	A	COL6A1	c.329G>A	NM_001848.3	NP_001839.2:p.(Arg110His)	NC_000021.8:g.47404284G>A	VUS	1 lab	4993fa702d
2:39278400 SOS1 A>G	2	39278400	39278400	A	G	SOS1	c.749T>C	NM_005633.4	NP_005624.2:p.(Val250Ala)	NC_000002.11:g.39278400A>G	(Likely) benign	1 lab	4996d0f5d2
1:228562364 OBSCN T>TGG	1	228562364	228562366	T	TGG	OBSCN	c.25446_25447dup	NM_001386125.1	NP_001373054.1:p.(Val8483GlyfsTer14)	NC_000001.10:g.228562365_228562366dup	VUS	1 lab	49976ee613
3:38951639 SCN11A G>A	3	38951639	38951639	G	A	SCN11A	c.1019C>T	NM_001349253.2	NP_001336182.1:p.(Thr340Met)	NC_000003.11:g.38951639G>A	VUS	1 lab	4997d65229
9:135946721 CEL GGGCCCCCCCCGTGC>G	9	135946721	135946735	GGGCCCCCCCCGTGC	G	CEL	c.1833_1846del	NM_001807.6	NP_001798.3:p.(Pro613HisfsTer3)	NC_000009.11:g.135946722_135946735del	(Likely) benign	1 lab	49985e1f7e
14:31554063 AP4S1 C>A	14	31554063	31554063	C	A	AP4S1	c.306+4273C>A	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31554063C>A	VUS	1 lab	49989d9ca7
19:14288437 ADGRL1 C>T	19	14288437	14288437	C	T	ADGRL1	c.190G>A	NM_014921.5	NP_055736.2:p.(Gly64Arg)	NC_000019.9:g.14288437C>T	VUS	1 lab	49991fc670
19:13320185 CACNA1A C>T	19	13320185	13320185	C	T	CACNA1A	c.6467G>A	NM_001127222.2	NP_001120694.1:p.(Arg2156His)	NC_000019.9:g.13320185C>T	VUS	1 lab	4999a3eba0
12:22025566 ABCC9 A>C	12	22025566	22025566	A	C	ABCC9	c.2191T>G	NM_020297.4	NP_064693.2:p.(Trp731Gly)	NC_000012.11:g.22025566A>C	VUS	1 lab	499b1d70ca
2:189868170 COL3A1 C>T	2	189868170	189868170	C	T	COL3A1	c.2587C>T	NM_000090.4	NP_000081.2:p.(Arg863Cys)	NC_000002.11:g.189868170C>T	VUS	1 lab	499c5ae8ba
16:2156121 PKD1 CTGG>C	16	2156121	2156125	CTGG	C	PKD1	c.7671_7673del	NM_001009944.3	NP_001009944.3:p.(Asp2557_Gln2558delinsGlu)	NC_000016.9:g.2156123_2156125del	VUS	1 lab	499c6632a6
11:118362033 KMT2A G>A	11	118362033	118362033	G	A	KMT2A	c.4819G>A	NM_001197104.2	NP_001184033.1:p.(Asp1607Asn)	NC_000011.9:g.118362033G>A	VUS	1 lab	499fba6af1
1:156106834 LMNA G>A	1	156106834	156106834	G	A	LMNA	c.1488+15G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106834G>A	(Likely) benign	1 lab	499fe187e5
10:124172498 PLEKHA1 G>GA	10	124172498	124172503	G	GA	PLEKHA1	c.410dup	NM_001001974.4	NP_001001974.1:p.(Gln138AlafsTer7)	NC_000010.10:g.124172503dup	VUS	1 lab	49a07f3413
7:45115647 CCM2 C>T	7	45115647	45115647	C	T	CCM2	c.1326C>T	NM_031443.4	NP_113631.1:p.(Asp442=)	NC_000007.13:g.45115647C>T	(Likely) benign	1 lab	49a45fbccc
7:21913099 DNAH11 G>A	7	21913099	21913099	G	A	DNAH11	c.12175G>A	NM_001277115.2	NP_001264044.1:p.(Ala4059Thr)	NC_000007.13:g.21913099G>A	VUS	1 lab	1f292aeb21
5:272870 PDCD6 A>G	5	272870	272870	A	G	PDCD6	c.146A>G	NM_013232.4	NP_037364.1:p.(Gln49Arg)	NC_000005.9:g.272870A>G	VUS	1 lab	49a75d57e7
4:56325411 CLOCK A>T	4	56325411	56325411	A	T	CLOCK	c.577T>A	NM_004898.4	NP_004889.1:p.(Phe193Ile)	NC_000004.11:g.56325411A>T	VUS	1 lab	49a7e4afe1
18:50705351 DCC A>T	18	50705351	50705351	A	T	DCC	c.1438A>T	NM_005215.4	NP_005206.2:p.(Thr480Ser)	NC_000018.9:g.50705351A>T	(Likely) benign	1 lab	49a8babe61
9:98734788 ERCC6L2 A>G	9	98734788	98734788	A	G	ERCC6L2	c.2755A>G	NM_020207.7	NP_064592.3:p.(Ile919Val)	NC_000009.11:g.98734788A>G	VUS	1 lab	49a955eedc
1:200584513 KIF14 T>C	1	200584513	200584513	T	C	KIF14	c.1337A>G	NM_014875.3	NP_055690.1:p.(Tyr446Cys)	NC_000001.10:g.200584513T>C	VUS	1 lab	49a9b892b3
12:6981466 SPSB2 A>T	12	6981466	6981466	A	T	SPSB2	c.600T>A	NM_032641.4	NP_116030.1:p.(Tyr200Ter)	NC_000012.11:g.6981466A>T	VUS	1 lab	49a9f8b6de
9:135271867 TTF1 T>C	9	135271867	135271867	T	C	TTF1	c.1809A>G	NM_007344.4	NP_031370.2:p.(Ile603Met)	NC_000009.11:g.135271867T>C	(Likely) benign	1 lab	49aa6ef798
7:103206770 RELN A>G	7	103206770	103206770	A	G	RELN	c.4837T>C	NM_005045.4	NP_005036.2:p.(Ser1613Pro)	NC_000007.13:g.103206770A>G	(Likely) benign	1 lab	49aaa6898b
3:39453455 RPSA T>C	3	39453455	39453455	T	C	RPSA	c.696T>C	NM_002295.6	NP_002286.2:p.(Thr232=)	NC_000003.11:g.39453455T>C	(Likely) benign	1 lab	49aae24a0f
11:8016061 EIF3F G>A	11	8016061	8016061	G	A	EIF3F	c.742G>A	NM_003754.3	NP_003745.1:p.(Gly248Arg)	NC_000011.9:g.8016061G>A	(Likely) benign	1 lab	49afd4e68d
10:15649809 ITGA8 A>G	10	15649809	15649809	A	G	ITGA8	c.1631T>C	NM_003638.3	NP_003629.2:p.(Leu544Ser)	NC_000010.10:g.15649809A>G	VUS	1 lab	49b059e13a
4:107037412 TBCK T>A	4	107037412	107037412	T	A	TBCK	c.2359A>T	NM_001163435.3	NP_001156907.2:p.(Thr787Ser)	NC_000004.11:g.107037412T>A	(Likely) benign	1 lab	49b1c27232
4:99342450 RAP1GDS1 C>T	4	99342450	99342450	C	T	RAP1GDS1	c.1345C>T	NM_001100427.2	NP_001093897.1:p.(Arg449Cys)	NC_000004.11:g.99342450C>T	VUS	1 lab	49b2453bcd
1:181740462 CACNA1E C>G	1	181740462	181740462	C	G	CACNA1E	c.4915C>G	NM_001205293.3	NP_001192222.1:p.(His1639Asp)	NC_000001.10:g.181740462C>G	VUS	1 lab	49b52ea9d4
12:106895135 POLR3B G>A	12	106895135	106895135	G	A	POLR3B	c.3019G>A	NM_018082.6	NP_060552.4:p.(Val1007Met)	NC_000012.11:g.106895135G>A	VUS	1 lab	49b58ea1cd
15:91354576 BLM T>C	15	91354576	91354576	T	C	BLM	c.4016T>C	NM_000057.4	NP_000048.1:p.(Met1339Thr)	NC_000015.9:g.91354576T>C	VUS	1 lab	49b5b15984
16:88786019 PIEZO1 T>G	16	88786019	88786019	T	G	PIEZO1	c.6434A>C	NM_001142864.4	NP_001136336.2:p.(Asn2145Thr)	NC_000016.9:g.88786019T>G	VUS	1 lab	1f2d094fea
11:118622810 DDX6 CAGA>C	11	118622810	118622819	CAGA	C	DDX6	c.*8-7_*8-5del	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118622817_118622819del	(Likely) benign	1 lab	49b6609360
7:70255956 AUTS2 A>G	7	70255956	70255956	A	G	AUTS2	c.3754A>G	NM_015570.4	NP_056385.1:p.(Thr1252Ala)	NC_000007.13:g.70255956A>G	(Likely) benign	1 lab	49b76d9628
13:28197208 POLR1D C>T	13	28197208	28197208	C	T	POLR1D	c.223C>T	NM_015972.4	NP_057056.1:p.(Pro75Ser)	NC_000013.10:g.28197208C>T	VUS	1 lab	49b7ab54c5
20:36775220 TGM2 G>C	20	36775220	36775220	G	C	TGM2	c.758C>G	NM_004613.4	NP_004604.2:p.(Ser253Cys)	NC_000020.10:g.36775220G>C	(Likely) benign	1 lab	49b9d1649a
22:38525570 PLA2G6 C>T	22	38525570	38525570	C	T	PLA2G6	c.1078-1G>A	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38525570C>T	(Likely) pathogenic	1 lab	49bc743232
5:138729991 PROB1 G>C	5	138729991	138729991	G	C	PROB1	c.780C>G	NM_001161546.2	NP_001155018.1:p.(Ser260Arg)	NC_000005.9:g.138729991G>C	(Likely) benign	1 lab	49bd6dbe61
15:67008756 SMAD6 C>T	15	67008756	67008756	C	T	SMAD6	c.875-3C>T	NM_005585.5	NP_005576.3:p.?	NC_000015.9:g.67008756C>T	(Likely) benign	1 lab	49be148220
2:179484372 TTN CTTCT>C	2	179484372	179484378	CTTCT	C	TTN	c.46668_46671del	NM_001267550.2	NP_001254479.2:p.(Glu15557ProfsTer28)	NC_000002.11:g.179484375_179484378del	(Likely) pathogenic	1 lab	49be3e2369
11:113101958 NCAM1 G>A	11	113101958	113101958	G	A	NCAM1	c.1090-409G>A	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113101958G>A	(Likely) benign	1 lab	49bed40ae1
22:20714929 MISSING C>A	22	20714929	20714929	C	A	MISSING				NC_000022.10:g.20714929C>A	(Likely) benign	1 lab	a10f5932e7
6:33137170 COL11A2 T>C	6	33137170	33137170	T	C	COL11A2	c.3788A>G	NM_080680.3	NP_542411.2:p.(Lys1263Arg)	NC_000006.11:g.33137170T>C	VUS	1 lab	49bf04cde5
22:26707889 SEZ6L C>G	22	26707889	26707889	C	G	SEZ6L	c.1837C>G	NM_021115.5	NP_066938.2:p.(Arg613Gly)	NC_000022.10:g.26707889C>G	VUS	1 lab	49bf0c256f
X:14038447 GEMIN8 C>A	X	14038447	14038447	C	A	GEMIN8	c.222G>T	NM_001042479.2	NP_001035944.1:p.(Gln74His)	NC_000023.10:g.14038447C>A	(Likely) benign	1 lab	49c0f97e4a
2:61709611 XPO1 C>T	2	61709611	61709611	C	T	XPO1	c.2876G>A	NM_003400.4	NP_003391.1:p.(Ser959Asn)	NC_000002.11:g.61709611C>T	VUS	1 lab	49c1fbbc91
1:152188212 HRNR C>T	1	152188212	152188212	C	T	HRNR	c.5893G>A	NM_001009931.3	NP_001009931.1:p.(Gly1965Ser)	NC_000001.10:g.152188212C>T	(Likely) benign	1 lab	49c3bd3067
1:103481221 COL11A1 T>C	1	103481221	103481221	T	C	COL11A1	c.1488+3A>G	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103481221T>C	VUS	1 lab	49c40037ec
14:21555481 ARHGEF40 G>A	14	21555481	21555481	G	A	ARHGEF40	c.4246G>A	NM_018071.5	NP_060541.3:p.(Ala1416Thr)	NC_000014.8:g.21555481G>A	(Likely) benign	1 lab	49c548d626
5:179043886 HNRNPH1 C>T	5	179043886	179043886	C	T	HNRNPH1	c.1191G>A	NM_001257293.2	NP_001244222.1:p.(Met397Ile)	NC_000005.9:g.179043886C>T	VUS	1 lab	49c5935010
19:13136150 NFIX C>T	19	13136150	13136150	C	T	NFIX	c.343C>T	NM_001365902.3	NP_001352831.1:p.(Arg115Trp)	NC_000019.9:g.13136150C>T	VUS	1 lab	49c5fd091f
15:90216544 PLIN1 G>T	15	90216544	90216544	G	T	PLIN1	c.147C>A	NM_002666.5	NP_002657.3:p.(Pro49=)	NC_000015.9:g.90216544G>T	(Likely) benign	1 lab	49c653be66
16:633386 PIGQ C>T	16	633386	633386	C	T	PIGQ	c.*351C>T	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.633386C>T	VUS	1 lab	49c785a81d
12:49447416 KMT2D G>C	12	49447416	49447416	G	C	KMT2D	c.682C>G	NM_003482.4	NP_003473.3:p.(Arg228Gly)	NC_000012.11:g.49447416G>C	(Likely) benign	1 lab	49c8d58be3
17:33771829 SLFN13 G>T	17	33771829	33771829	G	T	SLFN13	c.871C>A	NM_144682.6	NP_653283.3:p.(Arg291=)	NC_000017.10:g.33771829G>T	VUS	1 lab	49c9d115ca
12:121426852 HNF1A C>A	12	121426852	121426852	C	A	HNF1A	c.526+17C>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426852C>A	(Likely) benign	1 lab	49cc6ee3a3
1:27056192 ARID1A C>T	1	27056192	27056192	C	T	ARID1A	c.1188C>T	NM_006015.6	NP_006006.3:p.(Gly396=)	NC_000001.10:g.27056192C>T	(Likely) benign	1 lab	49cc8bdf57
6:161132099 PLG T>G	6	161132099	161132099	T	G	PLG	c.293-10T>G	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161132099T>G	VUS	1 lab	49ce6d819d
5:147444907 SPINK5 C>A	5	147444907	147444907	C	A	SPINK5	c.56-3C>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147444907C>A	VUS	1 lab	49cedb6b0c
14:102516473 DYNC1H1 G>T	14	102516473	102516473	G	T	DYNC1H1	c.13750G>T	NM_001376.5	NP_001367.2:p.(Ala4584Ser)	NC_000014.8:g.102516473G>T	(Likely) benign	1 lab	49cf8cb169
1:180243490 LHX4 A>G	1	180243490	180243490	A	G	LHX4	c.949A>G	NM_033343.4	NP_203129.1:p.(Ile317Val)	NC_000001.10:g.180243490A>G	(Likely) benign	1 lab	49d29c524e
7:47921579 PKD1L1 C>G	7	47921579	47921579	C	G	PKD1L1	c.3370G>C	NM_138295.5	NP_612152.1:p.(Glu1124Gln)	NC_000007.13:g.47921579C>G	VUS	1 lab	49d3d4bee8
15:69709783 KIF23 A>G	15	69709783	69709783	A	G	KIF23	c.143A>G	NM_001367805.3	NP_001354734.1:p.(Asn48Ser)	NC_000015.9:g.69709783A>G	VUS	1 lab	49d5b1df79
22:37466994 TMPRSS6 C>T	22	37466994	37466994	C	T	TMPRSS6	c.1634G>A	NM_001374504.1	NP_001361433.1:p.(Arg545Gln)	NC_000022.10:g.37466994C>T	(Likely) benign	1 lab	49d6e4845d
17:73754149 GALK1 C>T	17	73754149	73754149	C	T	GALK1	c.1167G>A	NM_000154.2	NP_000145.1:p.(Val389=)	NC_000017.10:g.73754149C>T	VUS	1 lab	49d721abe7
8:22049578 BMP1 C>T	8	22049578	22049578	C	T	BMP1	c.1094C>T	NM_006129.5	NP_006120.1:p.(Thr365Met)	NC_000008.10:g.22049578C>T	VUS	1 lab	49d9b55302
5:60827525 ZSWIM6 C>T	5	60827525	60827525	C	T	ZSWIM6	c.2218C>T	NM_020928.2	NP_065979.1:p.(Arg740Cys)	NC_000005.9:g.60827525C>T	VUS	1 lab	49dab74911
7:107912110 NRCAM C>T	7	107912110	107912110	C	T	NRCAM	c.-106-31496G>A	NM_001037132.4	NP_001032209.1:p.?	NC_000007.13:g.107912110C>T	(Likely) benign	1 lab	49dc0ef047
9:135944135 CEL C>T	9	135944135	135944135	C	T	CEL	c.972C>T	NM_001807.6	NP_001798.3:p.(Tyr324=)	NC_000009.11:g.135944135C>T	(Likely) benign	1 lab	49dda6ea89
21:47549155 COL6A2 C>T	21	47549155	47549155	C	T	COL6A2	c.2461+2700C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549155C>T	VUS	1 lab	49dde25e7c
17:78063996 CCDC40 A>G	17	78063996	78063996	A	G	CCDC40	c.2832+313A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063996A>G	(Likely) benign	1 lab	49de14a059
5:140778580 PCDHGB4 G>A	5	140778580	140778580	G	A	PCDHGB4	c.2397+8732G>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140778580G>A	(Likely) benign	1 lab	49df60b6fc
15:90248818 WDR93 G>A	15	90248818	90248818	G	A	WDR93	c.530G>A	NM_020212.2	NP_064597.1:p.(Gly177Glu)	NC_000015.9:g.90248818G>A	VUS	1 lab	49df8c088c
4:148407141 EDNRA G>T	4	148407141	148407141	G	T	EDNRA	c.308G>T	NM_001957.4	NP_001948.1:p.(Arg103Met)	NC_000004.11:g.148407141G>T	(Likely) benign	1 lab	49e020d9db
4:1806171 FGFR3 G>A	4	1806171	1806171	G	A	FGFR3	c.1190G>A	NM_000142.5	NP_000133.1:p.(Arg397His)	NC_000004.11:g.1806171G>A	VUS	1 lab	49e04fd6af
15:60850477 RORA G>T	15	60850477	60850477	G	T	RORA	c.197-26427C>A	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60850477G>T	(Likely) benign	1 lab	49e1aa87fb
6:146755399 GRM1 C>T	6	146755399	146755399	C	T	GRM1	c.3052C>T	NM_001278064.2	NP_001264993.1:p.(Gln1018Ter)	NC_000006.11:g.146755399C>T	VUS	1 lab	49e1c17dcf
3:195507862 MUC4 G>T	3	195507862	195507862	G	T	MUC4	c.10589C>A	NM_018406.7	NP_060876.5:p.(Ser3530Tyr)	NC_000003.11:g.195507862G>T	VUS	1 lab	49e24953da
2:118588274 DDX18 T>C	2	118588274	118588274	T	C	DDX18	c.1987T>C	NM_006773.4	NP_006764.3:p.(Ser663Pro)	NC_000002.11:g.118588274T>C	(Likely) benign	1 lab	49e2b44b79
X:75648802 MAGEE1 C>A	X	75648802	75648802	C	A	MAGEE1	c.479C>A	NM_020932.3	NP_065983.1:p.(Pro160Gln)	NC_000023.10:g.75648802C>A	(Likely) benign	1 lab	49e4456630
7:75694276 MDH2 G>A	7	75694276	75694276	G	A	MDH2	c.885+5G>A	NM_005918.4	NP_005909.2:p.?	NC_000007.13:g.75694276G>A	(Likely) benign	1 lab	49e5808e87
2:217341737 SMARCAL1 G>A	2	217341737	217341737	G	A	SMARCAL1	c.2428-95G>A	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217341737G>A	(Likely) benign	1 lab	1fd4fec375
2:166152341 SCN2A A>G	2	166152341	166152341	A	G	SCN2A	c.8A>G	NM_001040142.2	NP_001035232.1:p.(Gln3Arg)	NC_000002.11:g.166152341A>G	VUS	1 lab	49e7e07cbf
18:19751624 GATA6 GGCCGCGGCGGCAGCA>G	18	19751624	19751650	GGCCGCGGCGGCAGCA	G	GATA6	c.531_545del	NM_005257.6	NP_005248.2:p.(Ala179_Ala183del)	NC_000018.9:g.19751636_19751650del	VUS	1 lab	49e8ca15fc
12:52081004 SCN8A G>A	12	52081004	52081004	G	A	SCN8A	c.614+1G>A	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52081004G>A	VUS	1 lab	49e9094317
1:44402271 ARTN C>G	1	44402271	44402271	C	G	ARTN	c.497C>G	NM_057091.3	NP_476432.2:p.(Ala166Gly)	NC_000001.10:g.44402271C>G	(Likely) benign	1 lab	49e92892cf
14:73753848 NUMB T>C	14	73753848	73753848	T	C	NUMB	c.625A>G	NM_001005743.2	NP_001005743.1:p.(Ile209Val)	NC_000014.8:g.73753848T>C	(Likely) benign	1 lab	49e97fce1b
9:35799668 NPR2 C>T	9	35799668	35799668	C	T	NPR2	c.927C>T	NM_003995.4	NP_003986.2:p.(Phe309=)	NC_000009.11:g.35799668C>T	VUS	1 lab	49ec28998c
2:215846907 ABCA12 A>C	2	215846907	215846907	A	C	ABCA12	c.4579+4T>G	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215846907A>C	VUS	1 lab	49ec8b8de7
10:61835126 ANK3 T>G	10	61835126	61835126	T	G	ANK3	c.5513A>C	NM_020987.5	NP_066267.2:p.(Lys1838Thr)	NC_000010.10:g.61835126T>G	VUS	1 lab	49ed52a329
1:237024422 MTR TAGGGCA>T	1	237024422	237024428	TAGGGCA	T	MTR	c.2044-2_2047del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237024423_237024428del	(Likely) benign	1 lab	49ed6ad2e8
6:100965900 ASCC3 G>C	6	100965900	100965900	G	C	ASCC3	c.5894C>G	NM_006828.4	NP_006819.2:p.(Pro1965Arg)	NC_000006.11:g.100965900G>C	VUS	1 lab	49ef516daa
15:34038297 RYR3 C>G	15	34038297	34038297	C	G	RYR3	c.7928C>G	NM_001036.6	NP_001027.3:p.(Ser2643Cys)	NC_000015.9:g.34038297C>G	VUS	1 lab	49efd5b64b
4:77677864 SHROOM3 G>A	4	77677864	77677864	G	A	SHROOM3	c.4972G>A	NM_020859.4	NP_065910.3:p.(Asp1658Asn)	NC_000004.11:g.77677864G>A	(Likely) benign	1 lab	49efe087fa
3:52429002 DNAH1 G>A	3	52429002	52429002	G	A	DNAH1	c.10895G>A	NM_015512.5	NP_056327.4:p.(Arg3632His)	NC_000003.11:g.52429002G>A	(Likely) benign	1 lab	49f030ebc4
1:16053810 PLEKHM2 G>A	1	16053810	16053810	G	A	PLEKHM2	c.1243G>A	NM_015164.4	NP_055979.2:p.(Asp415Asn)	NC_000001.10:g.16053810G>A	(Likely) benign	1 lab	49f3a417e5
19:1056377 ABCA7 C>T	19	1056377	1056377	C	T	ABCA7	c.4465C>T	NM_019112.4	NP_061985.2:p.(Arg1489Ter)	NC_000019.9:g.1056377C>T	VUS	1 lab	49f4d3e94f
2:170044744 LRP2 T>C	2	170044744	170044744	T	C	LRP2	c.9064A>G	NM_004525.3	NP_004516.2:p.(Ser3022Gly)	NC_000002.11:g.170044744T>C	VUS	1 lab	1f3004a645
12:49431759 KMT2D C>T	12	49431759	49431759	C	T	KMT2D	c.9380G>A	NM_003482.4	NP_003473.3:p.(Arg3127His)	NC_000012.11:g.49431759C>T	(Likely) benign	1 lab	49f5ddb0aa
3:194790566 XXYLT1 G>A	3	194790566	194790566	G	A	XXYLT1	c.1060C>T	NM_152531.5	NP_689744.3:p.(Arg354Trp)	NC_000003.11:g.194790566G>A	(Likely) benign	1 lab	49f6913f31
13:100635022 ZIC2 A>C	13	100635022	100635022	A	C	ZIC2	c.704A>C	NM_007129.5	NP_009060.2:p.(His235Pro)	NC_000013.10:g.100635022A>C	VUS	1 lab	49f7a76ba0
X:135428968 ADGRG4 G>A	X	135428968	135428968	G	A	ADGRG4	c.3103G>A	NM_153834.4	NP_722576.3:p.(Glu1035Lys)	NC_000023.10:g.135428968G>A	(Likely) benign	1 lab	49f8e309d5
X:69419734 DGAT2L6 T>C	X	69419734	69419734	T	C	DGAT2L6	c.267+2T>C	NM_198512.3	NP_940914.1:p.?	NC_000023.10:g.69419734T>C	VUS	1 lab	4a24f04284
9:109691090 ZNF462 T>C	9	109691090	109691090	T	C	ZNF462	c.4897T>C	NM_021224.6	NP_067047.4:p.(Ser1633Pro)	NC_000009.11:g.109691090T>C	VUS	1 lab	49f9fa24d8
6:71571383 SMAP1 C>T	6	71571383	71571383	C	T	SMAP1	c.*1346C>T	NM_001044305.3	NP_001037770.1:p.?	NC_000006.11:g.71571383C>T	VUS	1 lab	49fa2e12ee
3:132407587 NPHP3 G>A	3	132407587	132407587	G	A	NPHP3	c.3032C>T	NM_153240.5	NP_694972.3:p.(Ala1011Val)	NC_000003.11:g.132407587G>A	VUS	1 lab	49fa3e5417
X:154158802 F8 G>A	X	154158802	154158802	G	A	F8	c.3263C>T	NM_000132.4	NP_000123.1:p.(Thr1088Ile)	NC_000023.10:g.154158802G>A	VUS	1 lab	49fc0b083c
X:70288179 SNX12 C>G	X	70288179	70288179	C	G	SNX12	c.-23G>C	NM_013346.4	NP_037478.2:p.?	NC_000023.10:g.70288179C>G	(Likely) benign	1 lab	49fcabe448
4:6302509 WFS1 C>T	4	6302509	6302509	C	T	WFS1	c.987C>T	NM_006005.3	NP_005996.2:p.(Phe329=)	NC_000004.11:g.6302509C>T	(Likely) benign	1 lab	49fd8ed4b9
16:31202337 FUS G>A	16	31202337	31202337	G	A	FUS	c.1447G>A	NM_004960.4	NP_004951.1:p.(Gly483Ser)	NC_000016.9:g.31202337G>A	VUS	1 lab	49fe2fa4e9
2:241685586 KIF1A G>C	2	241685586	241685586	G	C	KIF1A	c.3072C>G	NM_001244008.1	NP_001230937.1:p.(Ser1024=)	NC_000002.11:g.241685586G>C	(Likely) benign	1 lab	1fd84e96b9
22:51159488 SHANK3 C>G	22	51159488	51159488	C	G	SHANK3	c.3452C>G	NM_001372044.2	NP_001358973.1:p.(Ala1151Gly)	NC_000022.10:g.51159488C>G	(Likely) benign	1 lab	4a002843a9
2:130939965 MZT2B A>G	2	130939965	130939965	A	G	MZT2B	c.110A>G	NM_025029.5	NP_079305.2:p.(Glu37Gly)	NC_000002.11:g.130939965A>G	VUS	1 lab	4a00bb0ee3
3:151073981 MED12L A>C	3	151073981	151073981	A	C	MED12L	c.2661+154A>C	NM_001393769.1	NP_001380698.1:p.?	NC_000003.11:g.151073981A>C	VUS	1 lab	4a01a181a9
1:2435830 PLCH2 TTCC>T	1	2435830	2435842	TTCC	T	PLCH2	c.3439_3441del	NM_014638.4	NP_055453.2:p.(Ser1148del)	NC_000001.10:g.2435840_2435842del	(Likely) benign	1 lab	4a01c4ac10
1:22211396 HSPG2 G>T	1	22211396	22211396	G	T	HSPG2	c.1371C>A	NM_005529.7	NP_005520.4:p.(Ser457Arg)	NC_000001.10:g.22211396G>T	VUS	1 lab	4a02475667
11:792861 SLC25A22 C>T	11	792861	792861	C	T	SLC25A22	c.412+9G>A	NM_001191061.2	NP_001177990.1:p.?	NC_000011.9:g.792861C>T	(Likely) benign	1 lab	4a0382c541
3:169099162 MECOM G>C	3	169099162	169099162	G	C	MECOM	c.188C>G	NM_004991.4	NP_004982.2:p.(Pro63Arg)	NC_000003.11:g.169099162G>C	(Likely) benign	1 lab	4a0391d990
12:124242475 ATP6V0A2 G>GTTTT	12	124242475	124242477	G	GTTTT	ATP6V0A2	c.2468_2469insTTTT	NM_012463.4	NP_036595.2:p.(Glu824PhefsTer29)	NC_000012.11:g.124242476_124242477insTTTT	(Likely) benign	1 lab	4a03acf5b9
5:131528725 P4HA2 C>T	5	131528725	131528725	C	T	P4HA2	c.1580G>A	NM_001017974.2	NP_001017974.1:p.(Cys527Tyr)	NC_000005.9:g.131528725C>T	VUS	1 lab	4a03ba7cae
1:45973995 MMACHC T>C	1	45973995	45973995	T	C	MMACHC	c.388T>C	NM_015506.3	NP_056321.2:p.(Tyr130His)	NC_000001.10:g.45973995T>C	(Likely) pathogenic	1 lab	4a05b99df8
5:37048687 NIPBL T>A	5	37048687	37048687	T	A	NIPBL	c.6673T>A	NM_133433.4	NP_597677.2:p.(Ser2225Thr)	NC_000005.9:g.37048687T>A	VUS	1 lab	4a081f7842
7:123302371 LMOD2 C>T	7	123302371	123302371	C	T	LMOD2	c.731C>T	NM_207163.3	NP_997046.1:p.(Thr244Met)	NC_000007.13:g.123302371C>T	VUS	1 lab	4a0a41bd6a
6:149721554 SUMO4 A>C	6	149721554	149721554	A	C	SUMO4	c.27A>C	NM_001002255.2	NP_001002255.1:p.(Glu9Asp)	NC_000006.11:g.149721554A>C	(Likely) benign	1 lab	4a0acd5006
4:6303773 WFS1 G>C	4	6303773	6303773	G	C	WFS1	c.2251G>C	NM_006005.3	NP_005996.2:p.(Glu751Gln)	NC_000004.11:g.6303773G>C	VUS	1 lab	4a0b24e15d
3:128628183 ACAD9 A>G	3	128628183	128628183	A	G	ACAD9	c.1486-4A>G	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128628183A>G	VUS	1 lab	4a0be2f78d
2:25505588 DNMT3A T>C	2	25505588	25505588	T	C	DNMT3A	c.178-8A>G	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25505588T>C	(Likely) benign	1 lab	4a0bf0d465
X:11157158 ARHGAP6 C>T	X	11157158	11157158	C	T	ARHGAP6	c.2750G>A	NM_013427.3	NP_038286.2:p.(Arg917Gln)	NC_000023.10:g.11157158C>T	VUS	1 lab	4a0e78f724
13:32906899 BRCA2 A>G	13	32906899	32906899	A	G	BRCA2	c.1284A>G	NM_000059.4	NP_000050.3:p.(Leu428=)	NC_000013.10:g.32906899A>G	(Likely) benign	1 lab	4a11ee1081
11:108128347 ATM CT>C	11	108128347	108128349	CT	C	ATM	c.2376+16del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128349del	(Likely) benign	1 lab	4a14180dba
20:42984454 HNF4A G>A	20	42984454	42984454	G	A	HNF4A	c.10G>A	NM_175914.5	NP_787110.2:p.(Val4Met)	NC_000020.10:g.42984454G>A	VUS	1 lab	4a17c03d7a
1:46658626 POMGNT1 G>C	1	46658626	46658626	G	C	POMGNT1	c.1157C>G	NM_017739.4	NP_060209.4:p.(Ala386Gly)	NC_000001.10:g.46658626G>C	VUS	1 lab	4a1861f9a2
19:18896530 COMP G>A	19	18896530	18896530	G	A	COMP	c.1621C>T	NM_000095.3	NP_000086.2:p.(Pro541Ser)	NC_000019.9:g.18896530G>A	VUS	1 lab	4a1dc5db90
2:189871689 COL3A1 C>T	2	189871689	189871689	C	T	COL3A1	c.3228C>T	NM_000090.4	NP_000081.2:p.(Pro1076=)	NC_000002.11:g.189871689C>T	(Likely) benign	1 lab	4a1f6b8c90
X:107454968 COL4A6 C>T	X	107454968	107454968	C	T	COL4A6	c.447G>A	NM_001847.4	NP_001838.2:p.(Gly149=)	NC_000023.10:g.107454968C>T	(Likely) benign	1 lab	1f3530f2b5
8:144991142 PLEC T>C	8	144991142	144991142	T	C	PLEC	c.12847A>G	NM_201384.3	NP_958786.1:p.(Ile4283Val)	NC_000008.10:g.144991142T>C	(Likely) benign	1 lab	4a21e5d824
1:144916748 PDE4DIP C>G	1	144916748	144916748	C	G	PDE4DIP	c.1805G>C	NM_001395426.1	NP_001382355.1:p.(Ser602Thr)	NC_000001.10:g.144916748C>G	VUS	1 lab	4a232d0dd5
X:34148894 FAM47A G>C	X	34148894	34148894	G	C	FAM47A	c.1502C>G	NM_203408.4	NP_981953.2:p.(Thr501Arg)	NC_000023.10:g.34148894G>C	(Likely) benign	1 lab	4a25668fc9
4:6303228 WFS1 C>G	4	6303228	6303228	C	G	WFS1	c.1706C>G	NM_006005.3	NP_005996.2:p.(Ala569Gly)	NC_000004.11:g.6303228C>G	VUS	1 lab	4a25f41a0d
10:43287175 BMS1 C>T	10	43287175	43287175	C	T	BMS1	c.737C>T	NM_014753.4	NP_055568.3:p.(Pro246Leu)	NC_000010.10:g.43287175C>T	VUS	1 lab	4a26a0e0aa
X:153036468 PLXNB3 C>T	X	153036468	153036468	C	T	PLXNB3	c.2185C>T	NM_005393.3	NP_005384.2:p.(Arg729Trp)	NC_000023.10:g.153036468C>T	VUS	1 lab	4a288dc0b6
11:77103373 PAK1 T>C	11	77103373	77103373	T	C	PAK1	c.190+3A>G	NM_002576.5	NP_002567.3:p.?	NC_000011.9:g.77103373T>C	(Likely) benign	1 lab	4a2b3776f1
21:45390697 AGPAT3 A>G	21	45390697	45390697	A	G	AGPAT3	c.664+10A>G	NM_020132.5	NP_064517.1:p.?	NC_000021.8:g.45390697A>G	(Likely) benign	1 lab	4a2b9bf844
9:111761406 CTNNAL1 T>G	9	111761406	111761406	T	G	CTNNAL1	c.272A>C	NM_003798.4	NP_003789.1:p.(Asn91Thr)	NC_000009.11:g.111761406T>G	VUS	1 lab	4a2c1d3d93
8:145732120 GPT G>T	8	145732120	145732120	G	T	GPT	c.1294G>T	NM_005309.3	NP_005300.1:p.(Gly432Cys)	NC_000008.10:g.145732120G>T	(Likely) benign	1 lab	4a32435898
14:36096533 RALGAPA1 A>G	14	36096533	36096533	A	G	RALGAPA1	c.6620T>C	NM_001346249.2	NP_001333178.1:p.(Ile2207Thr)	NC_000014.8:g.36096533A>G	VUS	1 lab	4a332f6a95
5:45303800 HCN1 C>T	5	45303800	45303800	C	T	HCN1	c.1519G>A	NM_021072.4	NP_066550.2:p.(Ala507Thr)	NC_000005.9:g.45303800C>T	VUS	1 lab	4a3497cad6
22:38478793 SLC16A8 C>T	22	38478793	38478793	C	T	SLC16A8	c.88G>A	NM_013356.3	NP_037488.2:p.(Gly30Ser)	NC_000022.10:g.38478793C>T	VUS	1 lab	4a34cd22c0
7:101862335 CUX1 AACAC>A	7	101862335	101862375	AACAC	A	CUX1	c.3131-8275_3131-8272del	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101862372_101862375del	(Likely) benign	1 lab	4a3529dc6d
17:78086397 GAA G>T	17	78086397	78086397	G	T	GAA	c.1775G>T	NM_000152.5	NP_000143.2:p.(Gly592Val)	NC_000017.10:g.78086397G>T	VUS	1 lab	4a364044cf
15:75980646 CSPG4 G>T	15	75980646	75980646	G	T	CSPG4	c.2760C>A	NM_001897.5	NP_001888.2:p.(Asp920Glu)	NC_000015.9:g.75980646G>T	(Likely) benign	1 lab	4a36bb9eb8
14:105411797 AHNAK2 C>G	14	105411797	105411797	C	G	AHNAK2	c.9991G>C	NM_138420.4	NP_612429.2:p.(Val3331Leu)	NC_000014.8:g.105411797C>G	(Likely) benign	1 lab	4a372e7249
4:73414406 ADAMTS3 T>C	4	73414406	73414406	T	C	ADAMTS3	c.293A>G	NM_014243.3	NP_055058.2:p.(Asn98Ser)	NC_000004.11:g.73414406T>C	VUS	1 lab	4a386e383f
15:65394631 UBAP1L G>C	15	65394631	65394631	G	C	UBAP1L	c.512C>G	NM_001163692.2	NP_001157164.1:p.(Pro171Arg)	NC_000015.9:g.65394631G>C	(Likely) benign	1 lab	4a38a4e57c
17:73969777 ACOX1 T>C	17	73969777	73969777	T	C	ACOX1	c.269+4838A>G	NM_004035.7	NP_004026.2:p.?	NC_000017.10:g.73969777T>C	VUS	1 lab	4a39c988fd
2:121728138 GLI2 A>T	2	121728138	121728138	A	T	GLI2	c.1015A>T	NM_001374353.1	NP_001361282.1:p.(Thr339Ser)	NC_000002.11:g.121728138A>T	(Likely) benign	1 lab	4a3b5d3bb2
7:90006892 GTPBP10 C>T	7	90006892	90006892	C	T	GTPBP10	c.663C>T	NM_033107.4	NP_149098.2:p.(Leu221=)	NC_000007.13:g.90006892C>T	VUS	1 lab	4a3bb593b5
2:50574036 NRXN1 C>T	2	50574036	50574036	C	T	NRXN1	c.3365-109928G>A	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50574036C>T	VUS	1 lab	4a3c37d28b
19:36340508 NPHS1 G>A	19	36340508	36340508	G	A	NPHS1	c.656C>T	NM_004646.4	NP_004637.1:p.(Ala219Val)	NC_000019.9:g.36340508G>A	(Likely) benign	1 lab	4a3d882ace
2:152531871 NEB T>C	2	152531871	152531871	T	C	NEB	c.3809A>G	NM_001164508.2	NP_001157980.2:p.(His1270Arg)	NC_000002.11:g.152531871T>C	VUS	1 lab	4a3ded77ff
15:31294996 TRPM1 C>T	15	31294996	31294996	C	T	TRPM1	c.3907G>A	NM_001252024.2	NP_001238953.1:p.(Glu1303Lys)	NC_000015.9:g.31294996C>T	(Likely) benign	1 lab	4a3e10063b
1:200957889 KIF21B C>T	1	200957889	200957889	C	T	KIF21B	c.3298+5G>A	NM_001252102.2	NP_001239031.1:p.?	NC_000001.10:g.200957889C>T	VUS	1 lab	4a4f7d647c
18:3085043 MYOM1 C>T	18	3085043	3085043	C	T	MYOM1	c.4339G>A	NM_003803.4	NP_003794.3:p.(Ala1447Thr)	NC_000018.9:g.3085043C>T	VUS	1 lab	4a3f7b4e80
17:40476977 STAT3 T>C	17	40476977	40476977	T	C	STAT3	c.1464+4A>G	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40476977T>C	(Likely) benign	1 lab	4a408ada8f
20:2842275 VPS16 G>T	20	2842275	2842275	G	T	VPS16	c.824G>T	NM_022575.4	NP_072097.2:p.(Arg275Leu)	NC_000020.10:g.2842275G>T	(Likely) benign	1 lab	4a41c31b73
6:157517418 ARID1B C>T	6	157517418	157517418	C	T	ARID1B	c.4351C>T	NM_001374828.1	NP_001361757.1:p.(Gln1451Ter)	NC_000006.11:g.157517418C>T	(Likely) pathogenic	1 lab	4a430c567b
1:25554663 SYF2 C>T	1	25554663	25554663	C	T	SYF2	c.322G>A	NM_015484.5	NP_056299.1:p.(Ala108Thr)	NC_000001.10:g.25554663C>T	(Likely) benign	1 lab	4a44f17f9d
11:62297604 AHNAK C>A	11	62297604	62297604	C	A	AHNAK	c.4285G>T	NM_001620.3	NP_001611.1:p.(Gly1429Cys)	NC_000011.9:g.62297604C>A	(Likely) benign	1 lab	4a4591eb6f
18:10699073 PIEZO2 C>T	18	10699073	10699073	C	T	PIEZO2	c.6544G>A	NM_001378183.1	NP_001365112.1:p.(Asp2182Asn)	NC_000018.9:g.10699073C>T	(Likely) benign	1 lab	4a47c170c2
14:102873803 TECPR2 G>T	14	102873803	102873803	G	T	TECPR2	c.348G>T	NM_014844.5	NP_055659.2:p.(Gln116His)	NC_000014.8:g.102873803G>T	(Likely) benign	1 lab	4a49e0bdb1
17:73946885 ACOX1 T>C	17	73946885	73946885	T	C	ACOX1	c.1268A>G	NM_004035.7	NP_004026.2:p.(Glu423Gly)	NC_000017.10:g.73946885T>C	VUS	1 lab	4a49f6b495
18:19762822 GATA6 G>A	18	19762822	19762822	G	A	GATA6	c.1516+17G>A	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19762822G>A	(Likely) benign	1 lab	4a4ab01f5c
2:152342463 NEB G>GA	2	152342463	152342467	G	GA	NEB	c.25405-17dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152342467dup	(Likely) benign	1 lab	4a4bfd6b6b
17:17712761 RAI1 A>G	17	17712761	17712761	A	G	RAI1	c.5709+8A>G	NM_030665.4	NP_109590.3:p.?	NC_000017.10:g.17712761A>G	(Likely) benign	1 lab	4a4cc22c43
12:46215276 ARID2 T>A	12	46215276	46215276	T	A	ARID2	c.705+6T>A	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46215276T>A	(Likely) benign	1 lab	4a4dca7fc9
4:191003242 MISSING G>A	4	191003242	191003242	G	A	MISSING				NC_000004.11:g.191003242G>A	(Likely) benign	1 lab	4a4e44c350
5:33462104 TARS1 T>A	5	33462104	33462104	T	A	TARS1	c.1723T>A	NM_152295.5	NP_689508.3:p.(Tyr575Asn)	NC_000005.9:g.33462104T>A	VUS	1 lab	4a4fa3becb
X:17745771 NHS C>T	X	17745771	17745771	C	T	NHS	c.3545C>T	NM_001291867.2	NP_001278796.1:p.(Pro1182Leu)	NC_000023.10:g.17745771C>T	(Likely) benign	1 lab	4a50fa25ff
X:51361526 CENPVL3 G>A	X	51361526	51361526	G	A	CENPVL3	c.200C>T	NM_001355276.2	NP_001342205.2:p.(Ala67Val)	NC_000023.10:g.51361526G>A	(Likely) benign	1 lab	4a51d039c9
2:69581390 GFPT1 CCT>C	2	69581390	69581394	CCT	C	GFPT1	c.738_739del	NM_001244710.2	NP_001231639.1:p.(Gly247GlnfsTer33)	NC_000002.11:g.69581393_69581394del	(Likely) pathogenic	1 lab	4a5215ca04
20:60887239 LAMA5 C>T	20	60887239	60887239	C	T	LAMA5	c.9494G>A	NM_005560.6	NP_005551.3:p.(Arg3165Gln)	NC_000020.10:g.60887239C>T	(Likely) benign	1 lab	4a534074bc
2:238266477 COL6A3 C>T	2	238266477	238266477	C	T	COL6A3	c.6520G>A	NM_004369.4	NP_004360.2:p.(Gly2174Ser)	NC_000002.11:g.238266477C>T	VUS	1 lab	4a546d8694
4:15504502 CC2D2A C>T	4	15504502	15504502	C	T	CC2D2A	c.394C>T	NM_001378615.1	NP_001365544.1:p.(Arg132Ter)	NC_000004.11:g.15504502C>T	(Likely) pathogenic	1 lab	4a54cadb38
12:6442630 TNFRSF1A A>C	12	6442630	6442630	A	C	TNFRSF1A	c.375T>G	NM_001065.3	NP_001056.1:p.(Cys125Trp)	NC_000012.11:g.6442630A>C	(Likely) pathogenic	1 lab	1fdcc8fadc
1:6172289 CHD5 C>A	1	6172289	6172289	C	A	CHD5	c.5051G>T	NM_015557.3	NP_056372.1:p.(Gly1684Val)	NC_000001.10:g.6172289C>A	(Likely) benign	1 lab	4a5601efbb
8:110478822 PKHD1L1 C>A	8	110478822	110478822	C	A	PKHD1L1	c.8429C>A	NM_177531.6	NP_803875.2:p.(Thr2810Asn)	NC_000008.10:g.110478822C>A	VUS	1 lab	4a56e4973b
1:152279192 FLG C>T	1	152279192	152279192	C	T	FLG	c.8170G>A	NM_002016.2	NP_002007.1:p.(Ala2724Thr)	NC_000001.10:g.152279192C>T	VUS	1 lab	4a57f8c678
12:45803198 ANO6 C>T	12	45803198	45803198	C	T	ANO6	c.1939C>T	NM_001025356.3	NP_001020527.2:p.(Pro647Ser)	NC_000012.11:g.45803198C>T	VUS	1 lab	4a57fc18fa
3:47888310 DHX30 C>T	3	47888310	47888310	C	T	DHX30	c.1748C>T	NM_138615.3	NP_619520.1:p.(Pro583Leu)	NC_000003.11:g.47888310C>T	VUS	1 lab	4a5838f04a
15:91493381 UNC45A C>T	15	91493381	91493381	C	T	UNC45A	c.2074-3C>T	NM_018671.5	NP_061141.2:p.?	NC_000015.9:g.91493381C>T	(Likely) benign	1 lab	4a59292b86
8:55539543 RP1 A>T	8	55539543	55539543	A	T	RP1	c.3101A>T	NM_006269.2	NP_006260.1:p.(His1034Leu)	NC_000008.10:g.55539543A>T	(Likely) benign	1 lab	4a59d65241
22:41231618 ST13 A>G	22	41231618	41231618	A	G	ST13	c.524T>C	NM_003932.5	NP_003923.2:p.(Ile175Thr)	NC_000022.10:g.41231618A>G	VUS	1 lab	4a5a0f878a
6:18122134 NHLRC1 T>C	6	18122134	18122134	T	C	NHLRC1	c.704A>G	NM_198586.3	NP_940988.2:p.(Glu235Gly)	NC_000006.11:g.18122134T>C	VUS	1 lab	4a5a351405
6:29638166 MOG G>A	6	29638166	29638166	G	A	MOG	c.701G>A	NM_206809.4	NP_996532.2:p.(Arg234Lys)	NC_000006.11:g.29638166G>A	VUS	1 lab	4a5ad8e088
7:56085076 PSPH C>A	7	56085076	56085076	C	A	PSPH	c.276-4G>T	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56085076C>A	(Likely) benign	1 lab	4a5b637f6c
19:6759610 SH2D3A C>T	19	6759610	6759610	C	T	SH2D3A	c.491G>A	NM_005490.3	NP_005481.2:p.(Gly164Glu)	NC_000019.9:g.6759610C>T	VUS	1 lab	4a5d636487
X:152815015 ATP2B3 G>A	X	152815015	152815015	G	A	ATP2B3	c.1399G>A	NM_001001344.3	NP_001001344.1:p.(Ala467Thr)	NC_000023.10:g.152815015G>A	(Likely) benign	1 lab	4a5ec0fe92
1:244747232 CATSPERE A>G	1	244747232	244747232	A	G	CATSPERE	c.2076A>G	NM_001130957.2	NP_001124429.1:p.(Ile692Met)	NC_000001.10:g.244747232A>G	(Likely) benign	1 lab	4a5fe0c8ad
20:34022392 GDF5 G>A	20	34022392	34022392	G	A	GDF5	c.821C>T	NM_000557.5	NP_000548.2:p.(Pro274Leu)	NC_000020.10:g.34022392G>A	VUS	1 lab	4a5fe43de5
1:35250714 GJB3 C>A	1	35250714	35250714	C	A	GJB3	c.351C>A	NM_024009.3	NP_076872.1:p.(Tyr117Ter)	NC_000001.10:g.35250714C>A	VUS	1 lab	4a603e3bce
X:129267384 AIFM1 C>T	X	129267384	129267384	C	T	AIFM1	c.1352G>A	NM_004208.4	NP_004199.1:p.(Arg451Gln)	NC_000023.10:g.129267384C>T	(Likely) pathogenic	1 lab	4a6124f2f8
11:64064699 KCNK4 G>A	11	64064699	64064699	G	A	KCNK4	c.422G>A	NM_033310.3	NP_201567.1:p.(Arg141Gln)	NC_000011.9:g.64064699G>A	(Likely) benign	1 lab	4a6245c299
3:128205083 GATA2 G>A	3	128205083	128205083	G	A	GATA2	c.358C>T	NM_032638.5	NP_116027.2:p.(Pro120Ser)	NC_000003.11:g.128205083G>A	VUS	1 lab	4a62feff8f
11:107427711 ALKBH8 C>T	11	107427711	107427711	C	T	ALKBH8	c.148G>A	NM_138775.3	NP_620130.2:p.(Gly50Ser)	NC_000011.9:g.107427711C>T	VUS	1 lab	4a63618281
4:170483014 NEK1 A>G	4	170483014	170483014	A	G	NEK1	c.1109T>C	NM_001199397.3	NP_001186326.1:p.(Phe370Ser)	NC_000004.11:g.170483014A>G	VUS	1 lab	4a6395e235
11:130750661 SNX19 G>A	11	130750661	130750661	G	A	SNX19	c.2614C>T	NM_014758.3	NP_055573.3:p.(Arg872Cys)	NC_000011.9:g.130750661G>A	(Likely) benign	1 lab	4a63e3d539
7:40132835 CDK13 G>A	7	40132835	40132835	G	A	CDK13	c.3687G>A	NM_003718.5	NP_003709.3:p.(Ser1229=)	NC_000007.13:g.40132835G>A	(Likely) benign	1 lab	4a6488cbf8
1:229568295 ACTA1 G>A	1	229568295	229568295	G	A	ACTA1	c.454+8C>T	NM_001100.4	NP_001091.1:p.?	NC_000001.10:g.229568295G>A	VUS	1 lab	4a65018a0c
X:595418 SHOX C>G	X	595418	595418	C	G	SHOX	c.343C>G	NM_000451.3	NP_000442.1:p.(Leu115Val)	NC_000023.10:g.595418C>G	VUS	1 lab	4a677f52b5
7:148895759 ZNF282 G>A	7	148895759	148895759	G	A	ZNF282	c.500G>A	NM_003575.4	NP_003566.1:p.(Arg167Gln)	NC_000007.13:g.148895759G>A	VUS	1 lab	4a679aee65
22:42456284 NAGA C>G	22	42456284	42456284	C	G	NAGA	c.1235G>C	NM_000262.3	NP_000253.1:p.(Ter412SerextTer13)	NC_000022.10:g.42456284C>G	VUS	1 lab	4a680964a3
17:74005118 EVPL G>A	17	74005118	74005118	G	A	EVPL	c.4168C>T	NM_001988.4	NP_001979.2:p.(Arg1390Trp)	NC_000017.10:g.74005118G>A	VUS	1 lab	4a685a4511
12:65632256 LEMD3 TTATTTTTCTC>T	12	65632256	65632275	TTATTTTTCTC	T	LEMD3	c.1696-16_1696-7del	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65632266_65632275del	(Likely) benign	1 lab	4a69a2d8b3
15:91043192 IQGAP1 A>ATGTTT	15	91043192	91043221	A	ATGTTT	IQGAP1	c.4861-10_4861-6dup	NM_003870.4	NP_003861.1:p.?	NC_000015.9:g.91043217_91043221dup	(Likely) benign	1 lab	4a6a97e9e3
19:43023219 CEACAM1 T>C	19	43023219	43023219	T	C	CEACAM1	c.1127A>G	NM_001712.5	NP_001703.2:p.(Gln376Arg)	NC_000019.9:g.43023219T>C	(Likely) benign	1 lab	4a74de3b23
3:431094 CHL1 G>A	3	431094	431094	G	A	CHL1	c.2407G>A	NM_006614.4	NP_006605.2:p.(Ala803Thr)	NC_000003.11:g.431094G>A	VUS	1 lab	4a753c3e0f
8:145583697 SLC52A2 GC>G	8	145583697	145583703	GC	G	SLC52A2	c.551del	NM_001363118.2	NP_001350047.1:p.(Pro184ArgfsTer17)	NC_000008.10:g.145583703del	VUS	1 lab	4a75aa4477
5:82491754 XRCC4 C>T	5	82491754	82491754	C	T	XRCC4	c.481C>T	NM_003401.5	NP_003392.1:p.(Arg161Ter)	NC_000005.9:g.82491754C>T	VUS	1 lab	4a761540ab
X:140993842 MAGEC1 C>CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT	X	140993842	140993912	C	CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT	MAGEC1	c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT	NM_005462.5	NP_005453.2:p.(Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProLeuGlnIleProValSerProSer)	NC_000023.10:g.140993911_140993912insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT	VUS	1 lab	4a6a9c3946
12:133210965 POLE C>T	12	133210965	133210965	C	T	POLE	c.5812-1G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133210965C>T	VUS	1 lab	4a6d8404e3
16:16276417 ABCC6 GC>G	16	16276417	16276419	GC	G	ABCC6	c.2098del	NM_001171.6	NP_001162.5:p.(Ala700ProfsTer9)	NC_000016.9:g.16276419del	VUS	1 lab	4a6d9f27f2
5:34936279 DNAJC21 G>T	5	34936279	34936279	G	T	DNAJC21	c.346G>T	NM_001012339.3	NP_001012339.2:p.(Glu116Ter)	NC_000005.9:g.34936279G>T	(Likely) pathogenic	1 lab	4a6dbbd14a
15:89386726 ACAN G>A	15	89386726	89386726	G	A	ACAN	c.898G>A	NM_001369268.1	NP_001356197.1:p.(Gly300Ser)	NC_000015.9:g.89386726G>A	VUS	1 lab	4a6eeafe03
19:50143259 RRAS C>G	19	50143259	50143259	C	G	RRAS	c.97G>C	NM_006270.5	NP_006261.1:p.(Val33Leu)	NC_000019.9:g.50143259C>G	VUS	1 lab	4a6f1eb3ce
15:101718108 CHSY1 C>G	15	101718108	101718108	C	G	CHSY1	c.1894G>C	NM_014918.5	NP_055733.2:p.(Val632Leu)	NC_000015.9:g.101718108C>G	VUS	1 lab	4a6fa7ebc3
2:219924876 IHH T>A	2	219924876	219924876	T	A	IHH	c.314A>T	NM_002181.4	NP_002172.2:p.(Gln105Leu)	NC_000002.11:g.219924876T>A	VUS	1 lab	4a701c64dd
9:2039793 SMARCA2 A>C	9	2039793	2039793	A	C	SMARCA2	c.683A>C	NM_003070.5	NP_003061.3:p.(Gln228Pro)	NC_000009.11:g.2039793A>C	(Likely) benign	1 lab	4a707d5691
15:81625228 TMC3 CTCT>C	15	81625228	81625236	CTCT	C	TMC3	c.2832_2834del	NM_001080532.3	NP_001074001.1:p.(Glu947del)	NC_000015.9:g.81625234_81625236del	VUS	1 lab	4a70a83449
15:75653445 MAN2C1 G>A	15	75653445	75653445	G	A	MAN2C1	c.1402C>T	NM_006715.4	NP_006706.2:p.(Pro468Ser)	NC_000015.9:g.75653445G>A	VUS	1 lab	4a72c59e96
21:44485388 CBS T>C	21	44485388	44485388	T	C	CBS	c.667-6A>G	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44485388T>C	(Likely) benign	1 lab	4a74782f1f
3:126229531 UROC1 C>T	3	126229531	126229531	C	T	UROC1	c.233G>A	NM_144639.3	NP_653240.1:p.(Arg78Gln)	NC_000003.11:g.126229531C>T	VUS	1 lab	4a74b79d37
7:2582920 BRAT1 C>G	7	2582920	2582920	C	G	BRAT1	c.841G>C	NM_152743.4	NP_689956.2:p.(Glu281Gln)	NC_000007.13:g.2582920C>G	(Likely) benign	1 lab	4a76a741ac
7:131883388 PLXNA4 G>A	7	131883388	131883388	G	A	PLXNA4	c.2594C>T	NM_020911.2	NP_065962.1:p.(Pro865Leu)	NC_000007.13:g.131883388G>A	(Likely) benign	1 lab	4a7aade0e5
X:77043988 MISSING G>A	X	77043988	77043988	G	A	MISSING				NC_000023.10:g.77043988G>A	(Likely) benign	1 lab	4a7afe8dbd
2:39213296 SOS1 T>A	2	39213296	39213296	T	A	SOS1	c.3671A>T	NM_005633.4	NP_005624.2:p.(Asp1224Val)	NC_000002.11:g.39213296T>A	VUS	1 lab	4a7bdf2030
17:6609954 SLC13A5 T>C	17	6609954	6609954	T	C	SLC13A5	c.368+7A>G	NM_177550.5	NP_808218.1:p.?	NC_000017.10:g.6609954T>C	(Likely) benign	1 lab	4a7eedd586
11:64503389 RASGRP2 G>A	11	64503389	64503389	G	A	RASGRP2	c.1159C>T	NM_001098671.2	NP_001092141.1:p.(Arg387Cys)	NC_000011.9:g.64503389G>A	VUS	1 lab	4a816848ab
16:72993366 ZFHX3 C>T	16	72993366	72993366	C	T	ZFHX3	c.679G>A	NM_006885.4	NP_008816.3:p.(Val227Ile)	NC_000016.9:g.72993366C>T	(Likely) benign	1 lab	4a818c0594
4:140280924 NAA15 A>G	4	140280924	140280924	A	G	NAA15	c.1285A>G	NM_057175.5	NP_476516.1:p.(Arg429Gly)	NC_000004.11:g.140280924A>G	(Likely) benign	1 lab	4a81c768d2
9:35397166 UNC13B C>G	9	35397166	35397166	C	G	UNC13B	c.11535C>G	NM_001371189.2	NP_001358118.1:p.(Phe3845Leu)	NC_000009.11:g.35397166C>G	(Likely) benign	1 lab	4a81d12044
7:99701305 AP4M1 G>A	7	99701305	99701305	G	A	AP4M1	c.533G>A	NM_004722.4	NP_004713.2:p.(Arg178His)	NC_000007.13:g.99701305G>A	(Likely) benign	1 lab	4a8398747f
1:53675866 CPT2 G>C	1	53675866	53675866	G	C	CPT2	c.520G>C	NM_000098.3	NP_000089.1:p.(Glu174Gln)	NC_000001.10:g.53675866G>C	VUS	1 lab	4a839f1bdc
9:131114989 SLC27A4 C>A	9	131114989	131114989	C	A	SLC27A4	c.950C>A	NM_005094.4	NP_005085.2:p.(Ser317Tyr)	NC_000009.11:g.131114989C>A	VUS	1 lab	4a88fcfdae
15:89400571 ACAN C>T	15	89400571	89400571	C	T	ACAN	c.4755C>T	NM_001369268.1	NP_001356197.1:p.(Asp1585=)	NC_000015.9:g.89400571C>T	(Likely) benign	1 lab	4a890eeed7
X:48970825 GPKOW C>T	X	48970825	48970825	C	T	GPKOW	c.1262G>A	NM_015698.6	NP_056513.2:p.(Arg421His)	NC_000023.10:g.48970825C>T	(Likely) benign	1 lab	4a8b19fedb
2:220431687 OBSL1 C>T	2	220431687	220431687	C	T	OBSL1	c.1999G>A	NM_015311.3	NP_056126.1:p.(Ala667Thr)	NC_000002.11:g.220431687C>T	(Likely) benign	1 lab	4a8b44b3b1
X:19948045 BCLAF3 C>T	X	19948045	19948045	C	T	BCLAF3	c.1964G>A	NM_001367774.2	NP_001354703.1:p.(Gly655Asp)	NC_000023.10:g.19948045C>T	VUS	1 lab	4a8b967134
17:2585037 PAFAH1B1 G>A	17	2585037	2585037	G	A	PAFAH1B1	c.1174G>A	NM_000430.4	NP_000421.1:p.(Ala392Thr)	NC_000017.10:g.2585037G>A	VUS	1 lab	4a8d1012c2
19:11221411 LDLR G>C	19	11221411	11221411	G	C	LDLR	c.1024G>C	NM_000527.5	NP_000518.1:p.(Asp342His)	NC_000019.9:g.11221411G>C	VUS	1 lab	4a8d520f52
11:46341944 CREB3L1 C>T	11	46341944	46341944	C	T	CREB3L1	c.1388C>T	NM_052854.4	NP_443086.1:p.(Pro463Leu)	NC_000011.9:g.46341944C>T	(Likely) benign	1 lab	4a8ec9e9bc
2:179466209 TTN G>A	2	179466209	179466209	G	A	TTN	c.28695C>T	NM_133432.3	NP_597676.3:p.(Asp9565=)	NC_000002.11:g.179466209G>A	(Likely) benign	1 lab	1fdd89231d
16:2150388 PKD1 C>T	16	2150388	2150388	C	T	PKD1	c.9568+9G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2150388C>T	(Likely) benign	1 lab	4a919516ab
3:87313587 POU1F1 A>T	3	87313587	87313587	A	T	POU1F1	c.290T>A	NM_000306.4	NP_000297.1:p.(Leu97His)	NC_000003.11:g.87313587A>T	VUS	1 lab	4a94155a1f
15:45713332 AFG2B C>T	15	45713332	45713332	C	T	AFG2B	c.2186C>T	NM_024063.3	NP_076968.2:p.(Ser729Leu)	NC_000015.9:g.45713332C>T	VUS	1 lab	4a94bbb7ea
X:153780231 IKBKG T>G	X	153780231	153780231	T	G	IKBKG	c.14T>G	NM_001099857.5	NP_001093327.1:p.(Leu5Arg)	NC_000023.10:g.153780231T>G	VUS	1 lab	4a94ea1460
1:209797344 LAMB3 G>A	1	209797344	209797344	G	A	LAMB3	c.1978C>T	NM_001017402.2	NP_001017402.1:p.(Arg660Ter)	NC_000001.10:g.209797344G>A	(Likely) pathogenic	1 lab	1f3b9b8a49
3:147131264 ZIC1 C>CCCT	3	147131264	147131275	C	CCCT	ZIC1	c.1279_1281dup	NM_003412.4	NP_003403.2:p.(Ser427dup)	NC_000003.11:g.147131273_147131275dup	VUS	1 lab	4a96357c8d
2:163128748 IFIH1 C>A	2	163128748	163128748	C	A	IFIH1	c.2604G>T	NM_022168.4	NP_071451.2:p.(Glu868Asp)	NC_000002.11:g.163128748C>A	(Likely) benign	1 lab	4a96ea053a
1:203140677 MYBPH G>A	1	203140677	203140677	G	A	MYBPH	c.627C>T	NM_004997.3	NP_004988.2:p.(Thr209=)	NC_000001.10:g.203140677G>A	VUS	1 lab	4a96f4cc10
11:1477821 BRSK2 C>T	11	1477821	1477821	C	T	BRSK2	c.1850-7C>T	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1477821C>T	(Likely) benign	1 lab	4aaabf047b
12:50746547 FAM186A A>AGCCTGCTGAGTGGTGAGAGGCATCCCCAAGGCCTGGGCCTGCTGAGGGGTGAGAGTGATCTCCTGAGTCTGC	12	50746547	50746629	A	AGCCTGCTGAGTGGTGAGAGGCATCCCCAAGGCCTGGGCCTGCTGAGGGGTGAGAGTGATCTCCTGAGTCTGC	FAM186A	c.3996_4067dup	NM_001145475.3	NP_001138947.1:p.(Thr1334_Gln1357dup)	NC_000012.11:g.50746558_50746629dup	VUS	1 lab	4a96f595ca
17:38928323 KRT26 G>A	17	38928323	38928323	G	A	KRT26	c.43C>T	NM_181539.5	NP_853517.2:p.(Arg15Ter)	NC_000017.10:g.38928323G>A	VUS	1 lab	4a9778b762
5:127713525 FBN2 C>T	5	127713525	127713525	C	T	FBN2	c.1769G>A	NM_001999.4	NP_001990.2:p.(Arg590Gln)	NC_000005.9:g.127713525C>T	VUS	1 lab	4a9a603cf7
2:240066739 HDAC4 G>A	2	240066739	240066739	G	A	HDAC4	c.734-329C>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240066739G>A	(Likely) benign	1 lab	4a9a6bc47b
7:766907 PRKAR1B C>A	7	766907	766907	C	A	PRKAR1B	c.-83G>T	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.766907C>A	(Likely) benign	1 lab	4a9acef61c
4:1804781 FGFR3 GC>G	4	1804781	1804785	GC	G	FGFR3	c.931-634del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804785del	(Likely) benign	1 lab	4a9c2691bd
5:170305134 RANBP17 C>CT	5	170305134	170305135	C	CT	RANBP17	c.53dup	NM_022897.5	NP_075048.1:p.(Tyr19LeufsTer5)	NC_000005.9:g.170305135dup	VUS	1 lab	4a9c7c5dc2
3:38622557 SCN5A G>A	3	38622557	38622557	G	A	SCN5A	c.3093C>T	NM_000335.5	NP_000326.2:p.(Gly1031=)	NC_000003.11:g.38622557G>A	VUS	1 lab	4a9f1f166b
3:58095874 FLNB A>G	3	58095874	58095874	A	G	FLNB	c.2461A>G	NM_001457.4	NP_001448.2:p.(Ile821Val)	NC_000003.11:g.58095874A>G	(Likely) benign	1 lab	4aa2a6055b
20:45841332 ZMYND8 T>TTG	20	45841332	45841334	T	TTG	ZMYND8	c.3521_3522dup	NM_001281775.3	NP_001268704.1:p.(Thr1175GlnfsTer96)	NC_000020.10:g.45841333_45841334dup	VUS	1 lab	4aa3668acd
2:179399230 TTN C>T	2	179399230	179399230	C	T	TTN	c.102112G>A	NM_001267550.2	NP_001254479.2:p.(Ala34038Thr)	NC_000002.11:g.179399230C>T	VUS	1 lab	4aa59119df
19:48908025 GRIN2D C>T	19	48908025	48908025	C	T	GRIN2D	c.500C>T	NM_000836.4	NP_000827.2:p.(Ser167Phe)	NC_000019.9:g.48908025C>T	VUS	1 lab	4aa5bf1f67
9:100616285 FOXE1 G>C	9	100616285	100616285	G	C	FOXE1	c.89G>C	NM_004473.4	NP_004464.2:p.(Gly30Ala)	NC_000009.11:g.100616285G>C	VUS	1 lab	4aa61e9b18
15:101523889 LRRK1 C>G	15	101523889	101523889	C	G	LRRK1	c.418C>G	NM_024652.6	NP_078928.3:p.(Leu140Val)	NC_000015.9:g.101523889C>G	VUS	1 lab	4aaa788a5b
17:61345106 TANC2 C>T	17	61345106	61345106	C	T	TANC2	c.1034-3C>T	NM_001394998.1	NP_001381927.1:p.?	NC_000017.10:g.61345106C>T	(Likely) benign	1 lab	4aab787c8a
7:122787316 SLC13A1 G>A	7	122787316	122787316	G	A	SLC13A1	c.709C>T	NM_022444.4	NP_071889.2:p.(Arg237Cys)	NC_000007.13:g.122787316G>A	(Likely) benign	1 lab	4aac510ff0
9:130438903 STXBP1 C>T	9	130438903	130438903	C	T	STXBP1	c.1250-20C>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130438903C>T	(Likely) benign	1 lab	1f3fac33f1
9:35555359 RUSC2 C>T	9	35555359	35555359	C	T	RUSC2	c.2317C>T	NM_014806.5	NP_055621.2:p.(Arg773Trp)	NC_000009.11:g.35555359C>T	VUS	1 lab	4aaf567a58
15:34023860 RYR3 G>T	15	34023860	34023860	G	T	RYR3	c.7389G>T	NM_001036.6	NP_001027.3:p.(Arg2463Ser)	NC_000015.9:g.34023860G>T	VUS	1 lab	4aaf82dcbc
9:27047251 IFT74 CTT>C	9	27047251	27047253	CTT	C	IFT74	c.1109-20_1109-19del	NM_025103.4	NP_079379.2:p.?	NC_000009.11:g.27047252_27047253del	(Likely) benign	1 lab	1fde21fe71
13:110855942 COL4A1 C>T	13	110855942	110855942	C	T	COL4A1	c.970G>A	NM_001845.6	NP_001836.3:p.(Glu324Lys)	NC_000013.10:g.110855942C>T	(Likely) benign	1 lab	4ab1614aa9
X:23700592 PRDX4 G>A	X	23700592	23700592	G	A	PRDX4	c.679G>A	NM_006406.2	NP_006397.1:p.(Glu227Lys)	NC_000023.10:g.23700592G>A	VUS	1 lab	4ab19fab44
20:60887683 LAMA5 C>T	20	60887683	60887683	C	T	LAMA5	c.9227+5G>A	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60887683C>T	(Likely) benign	1 lab	4ab31a30df
9:117797536 TNC C>A	9	117797536	117797536	C	A	TNC	c.5734G>T	NM_002160.4	NP_002151.2:p.(Ala1912Ser)	NC_000009.11:g.117797536C>A	VUS	1 lab	4ab38e1a32
21:38850482 DYRK1A G>A	21	38850482	38850482	G	A	DYRK1A	c.208-28G>A	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38850482G>A	VUS	1 lab	4ab60421d4
22:26239713 MYO18B C>A	22	26239713	26239713	C	A	MYO18B	c.3220C>A	NM_032608.7	NP_115997.5:p.(Leu1074Met)	NC_000022.10:g.26239713C>A	VUS	1 lab	4ab682bbfa
5:122515961 PRDM6 C>T	5	122515961	122515961	C	T	PRDM6	c.1617C>T	NM_001136239.4	NP_001129711.1:p.(Ala539=)	NC_000005.9:g.122515961C>T	(Likely) benign	1 lab	4ab81e0966
2:206041259 PARD3B C>A	2	206041259	206041259	C	A	PARD3B	c.1882C>A	NM_001302769.2	NP_001289698.1:p.(Leu628Met)	NC_000002.11:g.206041259C>A	VUS	1 lab	4aba388854
19:9058489 MUC16 T>C	19	9058489	9058489	T	C	MUC16	c.29077A>G	NM_001401501.2	NP_001388430.1:p.(Ile9693Val)	NC_000019.9:g.9058489T>C	VUS	1 lab	4abab8d99d
20:62320477 RTEL1 C>T	20	62320477	62320477	C	T	RTEL1	c.1870C>T	NM_001283009.2	NP_001269938.1:p.(Arg624Trp)	NC_000020.10:g.62320477C>T	VUS	1 lab	4abb86fb83
12:49435219 KMT2D C>G	12	49435219	49435219	C	G	KMT2D	c.6334G>C	NM_003482.4	NP_003473.3:p.(Ala2112Pro)	NC_000012.11:g.49435219C>G	VUS	1 lab	4abf3d8106
22:51159361 SHANK3 G>T	22	51159361	51159361	G	T	SHANK3	c.3325G>T	NM_001372044.2	NP_001358973.1:p.(Ala1109Ser)	NC_000022.10:g.51159361G>T	VUS	1 lab	4abfb7fbac
22:45958866 FBLN1 T>A	22	45958866	45958866	T	A	FBLN1	c.1698-11525T>A	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45958866T>A	VUS	1 lab	4ac0a464e5
19:15291921 NOTCH3 G>T	19	15291921	15291921	G	T	NOTCH3	c.2845C>A	NM_000435.3	NP_000426.2:p.(Leu949Met)	NC_000019.9:g.15291921G>T	VUS	1 lab	4ac0f33dbe
12:13768083 GRIN2B C>T	12	13768083	13768083	C	T	GRIN2B	c.1619G>A	NM_000834.5	NP_000825.2:p.(Arg540His)	NC_000012.11:g.13768083C>T	(Likely) pathogenic	1 lab	4ac1d1c55c
8:145667648 TONSL G>A	8	145667648	145667648	G	A	TONSL	c.726C>T	NM_013432.5	NP_038460.4:p.(Ser242=)	NC_000008.10:g.145667648G>A	(Likely) benign	1 lab	4ac2c074b9
X:103042837 PLP1 C>T	X	103042837	103042837	C	T	PLP1	c.564C>T	NM_000533.5	NP_000524.3:p.(Ala188=)	NC_000023.10:g.103042837C>T	(Likely) benign	1 lab	1fe1b63802
9:77275590 RORB A>C	9	77275590	77275590	A	C	RORB	c.695A>C	NM_006914.4	NP_008845.2:p.(Glu232Ala)	NC_000009.11:g.77275590A>C	VUS	1 lab	4ac3d9b273
11:74204642 LIPT2 A>G	11	74204642	74204642	A	G	LIPT2	c.107T>C	NM_001144869.3	NP_001138341.1:p.(Ile36Thr)	NC_000011.9:g.74204642A>G	VUS	1 lab	4ac466878d
7:149427277 KRABD3 C>T	7	149427277	149427277	C	T	KRABD3	c.1953C>T	NM_001290187.2	NP_001277116.1:p.(Ser651=)	NC_000007.13:g.149427277C>T	(Likely) benign	1 lab	4ac49592da
6:70506697 LMBRD1 T>C	6	70506697	70506697	T	C	LMBRD1	c.69+8A>G	NM_018368.4	NP_060838.3:p.?	NC_000006.11:g.70506697T>C	VUS	1 lab	4ac596b064
11:17432147 ABCC8 G>A	11	17432147	17432147	G	A	ABCC8	c.2610C>T	NM_000352.6	NP_000343.2:p.(Ala870=)	NC_000011.9:g.17432147G>A	(Likely) benign	1 lab	4ac691705c
22:18609671 TUBA8 A>C	22	18609671	18609671	A	C	TUBA8	c.926A>C	NM_018943.3	NP_061816.1:p.(His309Pro)	NC_000022.10:g.18609671A>C	VUS	1 lab	4ac7413733
18:6961967 LAMA1 C>T	18	6961967	6961967	C	T	LAMA1	c.7429G>A	NM_005559.4	NP_005550.2:p.(Val2477Met)	NC_000018.9:g.6961967C>T	VUS	1 lab	4ac74fe9cd
7:83037743 SEMA3E C>T	7	83037743	83037743	C	T	SEMA3E	c.611G>A	NM_012431.3	NP_036563.1:p.(Arg204His)	NC_000007.13:g.83037743C>T	VUS	1 lab	4ac8f8debe
2:152717122 CACNB4 G>T	2	152717122	152717122	G	T	CACNB4	c.766+103C>A	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152717122G>T	(Likely) benign	1 lab	1fe2e10ad2
10:72648287 PCBD1 C>A	10	72648287	72648287	C	A	PCBD1	c.3+1G>T	NM_000281.4	NP_000272.1:p.?	NC_000010.10:g.72648287C>A	(Likely) pathogenic	1 lab	4acddb0bbb
7:44186198 GCK C>T	7	44186198	44186198	C	T	GCK	c.883G>A	NM_000162.5	NP_000153.1:p.(Gly295Ser)	NC_000007.13:g.44186198C>T	(Likely) pathogenic	1 lab	4acde9177f
X:30715864 GK G>A	X	30715864	30715864	G	A	GK	c.745G>A	NM_001205019.2	NP_001191948.1:p.(Val249Met)	NC_000023.10:g.30715864G>A	VUS	1 lab	4acdf4661b
9:136419605 ADAMTSL2 G>C	9	136419605	136419605	G	C	ADAMTSL2	c.1066G>C	NM_014694.4	NP_055509.2:p.(Asp356His)	NC_000009.11:g.136419605G>C	VUS	1 lab	4ace293000
5:161524718 GABRG2 C>G	5	161524718	161524718	C	G	GABRG2				NC_000005.9:g.161524718C>G	(Likely) benign	1 lab	1fe32c4226
14:100374050 EML1 G>A	14	100374050	100374050	G	A	EML1	c.1084G>A	NM_004434.3	NP_004425.2:p.(Glu362Lys)	NC_000014.8:g.100374050G>A	VUS	1 lab	4ad21e93d9
6:26124755 H2AC6 G>C	6	26124755	26124755	G	C	H2AC6	c.295G>C	NM_003512.4	NP_003503.1:p.(Gly99Arg)	NC_000006.11:g.26124755G>C	VUS	1 lab	4ad2f219d0
1:43213068 P3H1 G>T	1	43213068	43213068	G	T	P3H1	c.1930C>A	NM_022356.4	NP_071751.3:p.(Gln644Lys)	NC_000001.10:g.43213068G>T	(Likely) benign	1 lab	4ad3c37114
X:117773429 DOCK11 G>A	X	117773429	117773429	G	A	DOCK11	c.4033G>A	NM_144658.4	NP_653259.3:p.(Gly1345Arg)	NC_000023.10:g.117773429G>A	VUS	1 lab	4ad46f2878
13:31822096 B3GLCT C>T	13	31822096	31822096	C	T	B3GLCT	c.452C>T	NM_194318.4	NP_919299.3:p.(Pro151Leu)	NC_000013.10:g.31822096C>T	(Likely) benign	1 lab	4ad496760f
6:33134544 COL11A2 G>A	6	33134544	33134544	G	A	COL11A2	c.4291C>T	NM_080680.3	NP_542411.2:p.(Arg1431Trp)	NC_000006.11:g.33134544G>A	VUS	1 lab	4ad4e2a440
X:40448320 ATP6AP2 G>A	X	40448320	40448320	G	A	ATP6AP2	c.120G>A	NM_005765.3	NP_005756.2:p.(Glu40=)	NC_000023.10:g.40448320G>A	(Likely) benign	1 lab	1f3fea1605
1:53347303 ZYG11A G>T	1	53347303	53347303	G	T	ZYG11A	c.1910G>T	NM_001004339.3	NP_001004339.2:p.(Arg637Leu)	NC_000001.10:g.53347303G>T	VUS	1 lab	4ad7b191c8
3:114530764 ZBTB20 C>T	3	114530764	114530764	C	T	ZBTB20	c.-416-10743G>A	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114530764C>T	(Likely) benign	1 lab	4ad93d560c
6:110083391 FIG4 A>AT	6	110083391	110083395	A	AT	FIG4	c.1373dup	NM_014845.6	NP_055660.1:p.(Leu458PhefsTer5)	NC_000006.11:g.110083395dup	(Likely) pathogenic	1 lab	4ada20f3fd
11:126301362 KIRREL3 C>T	11	126301362	126301362	C	T	KIRREL3	c.1648G>A	NM_032531.4	NP_115920.1:p.(Val550Ile)	NC_000011.9:g.126301362C>T	(Likely) benign	1 lab	4adbff5cfb
17:44626773 LRRC37A2 A>C	17	44626773	44626773	A	C	LRRC37A2	c.4268A>C	NM_001006607.3	NP_001006608.2:p.(His1423Pro)	NC_000017.10:g.44626773A>C	(Likely) benign	1 lab	4adc17ca29
20:43042457 HNF4A G>T	20	43042457	43042457	G	T	HNF4A	c.492+17G>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43042457G>T	(Likely) benign	1 lab	4add0051c3
11:66192229 NPAS4 A>G	11	66192229	66192229	A	G	NPAS4	c.1868A>G	NM_178864.4	NP_849195.2:p.(His623Arg)	NC_000011.9:g.66192229A>G	(Likely) benign	1 lab	4adeb5d77d
17:78113514 EIF4A3 T>C	17	78113514	78113514	T	C	EIF4A3	c.541A>G	NM_014740.4	NP_055555.1:p.(Ile181Val)	NC_000017.10:g.78113514T>C	VUS	1 lab	4adf716804
1:240370634 FMN2 A>G	1	240370634	240370634	A	G	FMN2	c.2522A>G	NM_020066.5	NP_064450.3:p.(His841Arg)	NC_000001.10:g.240370634A>G	(Likely) benign	1 lab	4adf78d59a
2:179616764 TTN ATTCTGG>A	2	179616764	179616770	ATTCTGG	A	TTN	c.11311+1081_11311+1086del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616765_179616770del	(Likely) benign	1 lab	4ae025521e
8:116599380 TRPS1 G>A	8	116599380	116599380	G	A	TRPS1	c.2548C>T	NM_014112.5	NP_054831.2:p.(His850Tyr)	NC_000008.10:g.116599380G>A	VUS	1 lab	4ae29c7944
5:36985446 NIPBL C>A	5	36985446	36985446	C	A	NIPBL	c.2164C>A	NM_133433.4	NP_597677.2:p.(Pro722Thr)	NC_000005.9:g.36985446C>A	(Likely) benign	1 lab	4ae368167d
17:63533180 AXIN2 C>T	17	63533180	63533180	C	T	AXIN2	c.1714G>A	NM_004655.4	NP_004646.3:p.(Gly572Ser)	NC_000017.10:g.63533180C>T	VUS	1 lab	4ae48673c8
4:123128694 BLTP1 A>T	4	123128694	123128694	A	T	BLTP1	c.1655-2A>T	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123128694A>T	(Likely) benign	1 lab	4ae4e453ae
5:58286719 PDE4D T>A	5	58286719	58286719	T	A	PDE4D	c.1199A>T	NM_001104631.2	NP_001098101.1:p.(Asp400Val)	NC_000005.9:g.58286719T>A	VUS	1 lab	4ae5296c7c
2:166870370 SCN1A C>G	2	166870370	166870370	C	G	SCN1A	c.3589G>C	NM_001165963.4	NP_001159435.1:p.(Glu1197Gln)	NC_000002.11:g.166870370C>G	VUS	1 lab	4ae642eac2
11:48177357 PTPRJ T>G	11	48177357	48177357	T	G	PTPRJ	c.3234T>G	NM_002843.4	NP_002834.3:p.(Asp1078Glu)	NC_000011.9:g.48177357T>G	VUS	1 lab	4ae66cf1b3
4:6302879 WFS1 C>G	4	6302879	6302879	C	G	WFS1	c.1357C>G	NM_006005.3	NP_005996.2:p.(Pro453Ala)	NC_000004.11:g.6302879C>G	(Likely) benign	1 lab	4ae874f5f0
10:82102039 DYDC1 CT>C	10	82102039	82102041	CT	C	DYDC1	c.327del	NM_001269053.2	NP_001255982.1:p.(Glu110AsnfsTer3)	NC_000010.10:g.82102041del	VUS	1 lab	4ae8c3a45b
8:7215520 ZNF705G C>G	8	7215520	7215520	C	G	ZNF705G	c.881G>C	NM_001164457.3	NP_001157929.1:p.(Ser294Thr)	NC_000008.10:g.7215520C>G	(Likely) benign	1 lab	4ae8f03ca7
7:47860678 PKD1L1 T>A	7	47860678	47860678	T	A	PKD1L1	c.6961A>T	NM_138295.5	NP_612152.1:p.(Thr2321Ser)	NC_000007.13:g.47860678T>A	(Likely) benign	1 lab	4ae8fee57f
2:241534551 CAPN10 C>T	2	241534551	241534551	C	T	CAPN10	c.1108C>T	NM_023083.4	NP_075571.2:p.(Arg370Trp)	NC_000002.11:g.241534551C>T	VUS	1 lab	4aea026b8f
2:71783191 DYSF G>A	2	71783191	71783191	G	A	DYSF	c.2206G>A	NM_001130987.2	NP_001124459.1:p.(Ala736Thr)	NC_000002.11:g.71783191G>A	(Likely) benign	1 lab	4aeaa02c1e
4:5785351 EVC A>G	4	5785351	5785351	A	G	EVC	c.1636A>G	NM_153717.3	NP_714928.1:p.(Met546Val)	NC_000004.11:g.5785351A>G	(Likely) benign	1 lab	4aed9c5daf
X:101096548 NXF5 G>T	X	101096548	101096548	G	T	NXF5	c.241-18C>A	NM_032946.2	NP_116564.2:p.?	NC_000023.10:g.101096548G>T	(Likely) benign	1 lab	32d3b4e615
2:179518432 TTN G>C	2	179518432	179518432	G	C	TTN	c.38546-4C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518432G>C	(Likely) benign	1 lab	4af1edd6bb
X:105153373 NRK A>G	X	105153373	105153373	A	G	NRK	c.1740A>G	NM_198465.4	NP_940867.2:p.(Ser580=)	NC_000023.10:g.105153373A>G	(Likely) benign	1 lab	4af48a65f6
1:235860530 LYST C>T	1	235860530	235860530	C	T	LYST	c.10417G>A	NM_000081.4	NP_000072.2:p.(Val3473Met)	NC_000001.10:g.235860530C>T	VUS	1 lab	4af680c7da
2:217347479 SMARCAL1 A>G	2	217347479	217347479	A	G	SMARCAL1	c.2644A>G	NM_014140.4	NP_054859.2:p.(Ile882Val)	NC_000002.11:g.217347479A>G	VUS	1 lab	4af6fdac17
16:49671543 ZNF423 T>C	16	49671543	49671543	T	C	ZNF423	c.1544A>G	NM_001379286.1	NP_001366215.1:p.(Asn515Ser)	NC_000016.9:g.49671543T>C	VUS	1 lab	4af775d585
21:47541536 COL6A2 C>T	21	47541536	47541536	C	T	COL6A2	c.1521+4C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47541536C>T	VUS	1 lab	4af7a4bbe8
16:67237622 ELMO3 G>A	16	67237622	67237622	G	A	ELMO3	c.2005G>A	NM_024712.5	NP_078988.3:p.(Glu669Lys)	NC_000016.9:g.67237622G>A	VUS	1 lab	4afa49141e
1:152280134 FLG G>A	1	152280134	152280134	G	A	FLG	c.7228C>T	NM_002016.2	NP_002007.1:p.(Arg2410Cys)	NC_000001.10:g.152280134G>A	(Likely) benign	1 lab	4afae9b200
16:70505079 FCSK C>A	16	70505079	70505079	C	A	FCSK	c.1171-6C>A	NM_145059.3	NP_659496.2:p.?	NC_000016.9:g.70505079C>A	(Likely) benign	1 lab	4afc0b5df0
11:299457 IFITM5 C>A	11	299457	299457	C	A	IFITM5	c.34G>T	NM_001025295.3	NP_001020466.1:p.(Ala12Ser)	NC_000011.9:g.299457C>A	(Likely) benign	1 lab	4afce449ab
11:118895751 SLC37A4 T>C	11	118895751	118895751	T	C	SLC37A4	c.1159A>G	NM_001164277.2	NP_001157749.1:p.(Ile387Val)	NC_000011.9:g.118895751T>C	VUS	1 lab	4b00efbfc0
7:96653635 DLX5 A>G	7	96653635	96653635	A	G	DLX5	c.301T>C	NM_005221.6	NP_005212.1:p.(Tyr101His)	NC_000007.13:g.96653635A>G	VUS	1 lab	4b0387861e
1:170521212 GORAB G>T	1	170521212	170521212	G	T	GORAB	c.719G>T	NM_152281.3	NP_689494.3:p.(Arg240Leu)	NC_000001.10:g.170521212G>T	VUS	1 lab	4b08247c08
7:98634699 SMURF1 C>G	7	98634699	98634699	C	G	SMURF1	c.1800G>C	NM_181349.3	NP_851994.1:p.(Lys600Asn)	NC_000007.13:g.98634699C>G	VUS	1 lab	4b082da976
12:53865413 PCBP2 T>G	12	53865413	53865413	T	G	PCBP2	c.883-9T>G	NM_031989.5	NP_114366.1:p.?	NC_000012.11:g.53865413T>G	(Likely) benign	1 lab	4b08fa9746
17:79769543 GCGR G>A	17	79769543	79769543	G	A	GCGR	c.674G>A	NM_000160.5	NP_000151.1:p.(Arg225His)	NC_000017.10:g.79769543G>A	VUS	1 lab	4b08faf765
19:8467088 RAB11B A>G	19	8467088	8467088	A	G	RAB11B	c.355A>G	NM_004218.4	NP_004209.2:p.(Ile119Val)	NC_000019.9:g.8467088A>G	(Likely) benign	1 lab	4b0a5665d4
5:178417652 GRM6 C>A	5	178417652	178417652	C	A	GRM6	c.953G>T	NM_000843.4	NP_000834.2:p.(Ser318Ile)	NC_000005.9:g.178417652C>A	VUS	1 lab	4b0bee740a
11:55111659 OR4A16 G>A	11	55111659	55111659	G	A	OR4A16	c.983G>A	NM_001005274.1	NP_001005274.1:p.(Arg328Gln)	NC_000011.9:g.55111659G>A	VUS	1 lab	4b0bf75ee1
8:119122483 EXT1 C>A	8	119122483	119122483	C	A	EXT1	c.803G>T	NM_000127.3	NP_000118.2:p.(Gly268Val)	NC_000008.10:g.119122483C>A	(Likely) pathogenic	1 lab	4b0ca8a7f5
15:48766532 FBN1 T>G	15	48766532	48766532	T	G	FBN1	c.4130A>C	NM_000138.5	NP_000129.3:p.(His1377Pro)	NC_000015.9:g.48766532T>G	VUS	1 lab	4b0d4e6e39
19:45381498 NECTIN2 C>T	19	45381498	45381498	C	T	NECTIN2	c.1042+3763C>T	NM_001042724.2	NP_001036189.1:p.?	NC_000019.9:g.45381498C>T	(Likely) benign	1 lab	4b0dac883a
10:89503132 PAPSS2 G>A	10	89503132	89503132	G	A	PAPSS2	c.1225G>A	NM_001015880.2	NP_001015880.1:p.(Ala409Thr)	NC_000010.10:g.89503132G>A	VUS	1 lab	4b0e631ff3
X:44740067 KDM6A T>TATTG	X	44740067	44740069	T	TATTG	KDM6A	c.225+6835_225+6836insTTGA	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44740068_44740069insTTGA	(Likely) benign	1 lab	4b0f08def3
11:102076616 YAP1 C>T	11	102076616	102076616	C	T	YAP1	c.803-8C>T	NM_001130145.3	NP_001123617.1:p.?	NC_000011.9:g.102076616C>T	(Likely) benign	1 lab	4b0f7c51d4
22:28504260 TTC28 T>A	22	28504260	28504260	T	A	TTC28	c.1573A>T	NM_001145418.2	NP_001138890.1:p.(Asn525Tyr)	NC_000022.10:g.28504260T>A	VUS	1 lab	4b0ff5adee
X:153695103 PLXNA3 T>C	X	153695103	153695103	T	C	PLXNA3	c.3074T>C	NM_017514.5	NP_059984.3:p.(Val1025Ala)	NC_000023.10:g.153695103T>C	VUS	1 lab	4b10008b40
11:64123094 CCDC88B C>T	11	64123094	64123094	C	T	CCDC88B	c.4369C>T	NM_032251.6	NP_115627.6:p.(Arg1457Ter)	NC_000011.9:g.64123094C>T	VUS	1 lab	4b113db9d5
10:95653834 SLC35G1 C>T	10	95653834	95653834	C	T	SLC35G1	c.44C>T	NM_001134658.3	NP_001128130.1:p.(Pro15Leu)	NC_000010.10:g.95653834C>T	VUS	1 lab	4b13fe16ac
9:79820898 VPS13A A>G	9	79820898	79820898	A	G	VPS13A	c.288A>G	NM_033305.3	NP_150648.2:p.(Ile96Met)	NC_000009.11:g.79820898A>G	VUS	1 lab	4b16614eae
3:57232517 HESX1 C>T	3	57232517	57232517	C	T	HESX1	c.361G>A	NM_003865.3	NP_003856.1:p.(Glu121Lys)	NC_000003.11:g.57232517C>T	VUS	1 lab	4b16801c28
2:62066598 FAM161A G>A	2	62066598	62066598	G	A	FAM161A	c.1541C>T	NM_001201543.2	NP_001188472.1:p.(Pro514Leu)	NC_000002.11:g.62066598G>A	VUS	1 lab	4b169f9eba
13:32903571 BRCA2 A>T	13	32903571	32903571	A	T	BRCA2	c.632-9A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32903571A>T	(Likely) benign	1 lab	4b195a7110
5:42566001 GHR A>T	5	42566001	42566001	A	T	GHR	c.25A>T	NM_000163.5	NP_000154.1:p.(Thr9Ser)	NC_000005.9:g.42566001A>T	VUS	1 lab	4b1971f529
19:10746172 SLC44A2 C>T	19	10746172	10746172	C	T	SLC44A2	c.1214C>T	NM_020428.4	NP_065161.3:p.(Ala405Val)	NC_000019.9:g.10746172C>T	(Likely) benign	1 lab	4b19c3b45d
18:59483587 RNF152 A>G	18	59483587	59483587	A	G	RNF152	c.110T>C	NM_173557.3	NP_775828.1:p.(Val37Ala)	NC_000018.9:g.59483587A>G	(Likely) benign	1 lab	4b1d1071f6
11:17436878 ABCC8 C>T	11	17436878	17436878	C	T	ABCC8	c.2264G>A	NM_000352.6	NP_000343.2:p.(Arg755Gln)	NC_000011.9:g.17436878C>T	(Likely) benign	1 lab	4b1d4ce3aa
20:60747857 SS18L1 G>A	20	60747857	60747857	G	A	SS18L1	c.1036G>A	NM_198935.3	NP_945173.1:p.(Gly346Arg)	NC_000020.10:g.60747857G>A	VUS	1 lab	4b1d9f5710
9:135939797 CEL G>A	9	135939797	135939797	G	A	CEL	c.73G>A	NM_001807.6	NP_001798.3:p.(Ala25Thr)	NC_000009.11:g.135939797G>A	(Likely) benign	1 lab	4b1da3df02
16:30970037 SETD1A G>A	16	30970037	30970037	G	A	SETD1A	c.-15-1G>A	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970037G>A	VUS	1 lab	4b1ff42d2b
21:34925187 SON A>T	21	34925187	34925187	A	T	SON	c.3650A>T	NM_032195.3	NP_115571.3:p.(Gln1217Leu)	NC_000021.8:g.34925187A>T	VUS	1 lab	1f48a55263
X:153187170 ARHGAP4 G>A	X	153187170	153187170	G	A	ARHGAP4	c.160C>T	NM_001666.5	NP_001657.3:p.(Arg54Trp)	NC_000023.10:g.153187170G>A	VUS	1 lab	4b23d26595
22:22203266 MAPK1 G>A	22	22203266	22203266	G	A	MAPK1	c.119+18346C>T	NM_002745.5	NP_002736.3:p.?	NC_000022.10:g.22203266G>A	(Likely) benign	1 lab	4b23e09b01
2:242573500 THAP4 G>A	2	242573500	242573500	G	A	THAP4	c.78-6C>T	NM_015963.6	NP_057047.4:p.?	NC_000002.11:g.242573500G>A	(Likely) benign	1 lab	4b250d08ec
5:127866347 FBN2 C>T	5	127866347	127866347	C	T	FBN2	c.377G>A	NM_001999.4	NP_001990.2:p.(Arg126His)	NC_000005.9:g.127866347C>T	(Likely) benign	1 lab	4b25cc8ecb
7:150706267 NOS3 C>T	7	150706267	150706267	C	T	NOS3	c.2246-10C>T	NM_000603.5	NP_000594.2:p.?	NC_000007.13:g.150706267C>T	(Likely) benign	1 lab	4b267ddfa5
10:112328777 SMC3 T>C	10	112328777	112328777	T	C	SMC3	c.91+6T>C	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112328777T>C	VUS	1 lab	4b26bf917c
16:88793117 PIEZO1 G>A	16	88793117	88793117	G	A	PIEZO1	c.3699+6C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793117G>A	(Likely) benign	1 lab	4b2773a070
16:58564154 CNOT1 T>C	16	58564154	58564154	T	C	CNOT1	c.6275A>G	NM_016284.5	NP_057368.3:p.(Tyr2092Cys)	NC_000016.9:g.58564154T>C	VUS	1 lab	4b27b064b9
13:52593047 ALG11 A>G	13	52593047	52593047	A	G	ALG11	c.45-2A>G	NM_001004127.3	NP_001004127.2:p.?	NC_000013.10:g.52593047A>G	VUS	1 lab	4b28acb97d
5:112173729 APC A>G	5	112173729	112173729	A	G	APC	c.2438A>G	NM_000038.6	NP_000029.2:p.(Asn813Ser)	NC_000005.9:g.112173729A>G	(Likely) benign	1 lab	4b292f4946
16:3807282 CREBBP C>G	16	3807282	3807282	C	G	CREBBP	c.3698+7G>C	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3807282C>G	(Likely) benign	1 lab	4b29f64115
21:44486840 CBS C>T	21	44486840	44486840	C	T	CBS	c.317-353G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44486840C>T	(Likely) benign	1 lab	4b2a0d0ff0
5:147480934 SPINK5 G>A	5	147480934	147480934	G	A	SPINK5	c.1237G>A	NM_006846.4	NP_006837.2:p.(Glu413Lys)	NC_000005.9:g.147480934G>A	VUS	1 lab	4b2d4524f6
10:13702427 FRMD4A T>C	10	13702427	13702427	T	C	FRMD4A	c.1787A>G	NM_018027.5	NP_060497.3:p.(Tyr596Cys)	NC_000010.10:g.13702427T>C	VUS	1 lab	4b2dfe94dc
3:122003856 CASR G>A	3	122003856	122003856	G	A	CASR	c.3055G>A	NM_000388.4	NP_000379.3:p.(Gly1019Arg)	NC_000003.11:g.122003856G>A	VUS	1 lab	4b3009d87e
19:48917913 GRIN2D A>C	19	48917913	48917913	A	C	GRIN2D	c.1412+72A>C	NM_000836.4	NP_000827.2:p.?	NC_000019.9:g.48917913A>C	(Likely) benign	1 lab	4b32f29d03
1:158613146 SPTA1 C>T	1	158613146	158613146	C	T	SPTA1	c.4408G>A	NM_003126.4	NP_003117.2:p.(Glu1470Lys)	NC_000001.10:g.158613146C>T	(Likely) benign	1 lab	4b3344c8e3
20:62836949 MYT1 G>A	20	62836949	62836949	G	A	MYT1	c.193G>A	NM_004535.3	NP_004526.1:p.(Ala65Thr)	NC_000020.10:g.62836949G>A	(Likely) benign	1 lab	4b336beb42
1:6166347 CHD5 T>C	1	6166347	6166347	T	C	CHD5	c.5858A>G	NM_015557.3	NP_056372.1:p.(Asp1953Gly)	NC_000001.10:g.6166347T>C	VUS	1 lab	4b37ee6f3e
17:79895132 PYCR1 AC>A	17	79895132	79895135	AC	A	PYCR1	c.-443del	NM_006907.4	NP_008838.2:p.?	NC_000017.10:g.79895135del	VUS	1 lab	4b38269305
2:241736734 KIF1A C>G	2	241736734	241736734	C	G	KIF1A	c.106+330G>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241736734C>G	(Likely) benign	1 lab	4b38ffc2e5
16:1840893 IGFALS C>T	16	1840893	1840893	C	T	IGFALS	c.1526G>A	NM_004970.3	NP_004961.1:p.(Arg509His)	NC_000016.9:g.1840893C>T	VUS	1 lab	4b39fb7178
3:58124189 FLNB C>T	3	58124189	58124189	C	T	FLNB	c.5042C>T	NM_001457.4	NP_001448.2:p.(Pro1681Leu)	NC_000003.11:g.58124189C>T	(Likely) benign	1 lab	4b3a657f12
X:107838826 COL4A5 C>T	X	107838826	107838826	C	T	COL4A5	c.1511C>T	NM_033380.3	NP_203699.1:p.(Pro504Leu)	NC_000023.10:g.107838826C>T	VUS	1 lab	4b3b247bc3
11:6655500 DCHS1 A>T	11	6655500	6655500	A	T	DCHS1	c.1835T>A	NM_003737.4	NP_003728.1:p.(Leu612His)	NC_000011.9:g.6655500A>T	VUS	1 lab	4b3b460221
X:140993827 MAGEC1 A>ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAG	X	140993827	140993852	A	ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAG	MAGEC1	c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA	NM_005462.5	NP_005453.2:p.(Thr221SerfsTer24)	NC_000023.10:g.140993851_140993852insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA	VUS	1 lab	4b3b4f8768
10:104389820 SUFU C>A	10	104389820	104389820	C	A	SUFU	c.1366-3C>A	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104389820C>A	(Likely) benign	1 lab	4b3bc075f2
22:40056362 CACNA1I G>A	22	40056362	40056362	G	A	CACNA1I	c.2618G>A	NM_021096.4	NP_066919.2:p.(Arg873His)	NC_000022.10:g.40056362G>A	(Likely) benign	1 lab	4b3d64302b
11:102395713 MMP7 A>C	11	102395713	102395713	A	C	MMP7	c.567T>G	NM_002423.5	NP_002414.1:p.(Asp189Glu)	NC_000011.9:g.102395713A>C	VUS	1 lab	4b3daa40dd
19:11322643 DOCK6 C>T	19	11322643	11322643	C	T	DOCK6	c.4650+26G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11322643C>T	(Likely) benign	1 lab	4b3db7482b
5:13883075 DNAH5 C>T	5	13883075	13883075	C	T	DNAH5	c.3112G>A	NM_001369.3	NP_001360.1:p.(Val1038Met)	NC_000005.9:g.13883075C>T	(Likely) benign	1 lab	4b40557004
9:140708027 EHMT1 A>AC	9	140708027	140708028	A	AC	EHMT1	c.3180+46dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140708028dup	VUS	1 lab	4b408af320
2:130911381 SMPD4 T>C	2	130911381	130911381	T	C	SMPD4	c.1787A>G	NM_017951.5	NP_060421.3:p.(Asn596Ser)	NC_000002.11:g.130911381T>C	(Likely) benign	1 lab	4b41321239
9:135947100 CEL C>G	9	135947100	135947100	C	G	CEL	c.2211C>G	NM_001807.6	NP_001798.3:p.(Pro737=)	NC_000009.11:g.135947100C>G	(Likely) benign	1 lab	4b4190b4e8
1:36024465 NCDN T>G	1	36024465	36024465	T	G	NCDN	c.34-243T>G	NM_014284.3	NP_055099.1:p.?	NC_000001.10:g.36024465T>G	(Likely) benign	1 lab	4b448b1426
X:12736042 FRMPD4 G>A	X	12736042	12736042	G	A	FRMPD4	c.3097G>A	NM_001368397.1	NP_001355326.1:p.(Asp1033Asn)	NC_000023.10:g.12736042G>A	(Likely) benign	1 lab	4b44dc48a3
X:8995926 FAM9B G>A	X	8995926	8995926	G	A	FAM9B	c.475C>T	NM_205849.3	NP_995321.1:p.(Arg159Cys)	NC_000023.10:g.8995926G>A	VUS	1 lab	4b45608920
16:75690977 TERF2IP G>T	16	75690977	75690977	G	T	TERF2IP	c.*468G>T	NM_018975.4	NP_061848.2:p.?	NC_000016.9:g.75690977G>T	(Likely) benign	1 lab	4b46f8be17
12:56092610 ITGA7 C>T	12	56092610	56092610	C	T	ITGA7	c.882G>A	NM_002206.3	NP_002197.2:p.(Val294=)	NC_000012.11:g.56092610C>T	(Likely) benign	1 lab	4b48018f95
16:58572105 CNOT1 T>C	16	58572105	58572105	T	C	CNOT1	c.5201A>G	NM_016284.5	NP_057368.3:p.(Asn1734Ser)	NC_000016.9:g.58572105T>C	VUS	1 lab	4b4a6bdab4
3:66287097 SLC25A26 TCTG>T	3	66287097	66287105	TCTG	T	SLC25A26	c.169_171del	NM_001379210.1	NP_001366139.1:p.(Ala57del)	NC_000003.11:g.66287103_66287105del	VUS	1 lab	4b4acaa49e
17:79892800 PYCR1 AC>A	17	79892800	79892801	AC	A	PYCR1	c.540+1del	NM_006907.4	NP_008838.2:p.?	NC_000017.10:g.79892801del	(Likely) pathogenic	1 lab	1f4c9e5848
14:29237093 FOXG1 C>G	14	29237093	29237093	C	G	FOXG1	c.608C>G	NM_005249.5	NP_005240.3:p.(Thr203Arg)	NC_000014.8:g.29237093C>G	VUS	1 lab	4b4dd6ab5b
17:10419755 MYH1 C>T	17	10419755	10419755	C	T	MYH1	c.204+1G>A	NM_005963.4	NP_005954.3:p.?	NC_000017.10:g.10419755C>T	VUS	1 lab	4b51a0ce04
7:5410697 TNRC18 C>G	7	5410697	5410697	C	G	TNRC18	c.3528G>C	NM_001080495.3	NP_001073964.2:p.(Glu1176Asp)	NC_000007.13:g.5410697C>G	(Likely) benign	1 lab	4b52b4a351
16:29810971 KIF22 A>T	16	29810971	29810971	A	T	KIF22	c.1013A>T	NM_007317.3	NP_015556.1:p.(His338Leu)	NC_000016.9:g.29810971A>T	(Likely) benign	1 lab	4b54868d10
16:89759723 CDK10 G>C	16	89759723	89759723	G	C	CDK10	c.527G>C	NM_052988.5	NP_443714.3:p.(Cys176Ser)	NC_000016.9:g.89759723G>C	VUS	1 lab	4b54fca5ba
15:99250961 IGF1R C>G	15	99250961	99250961	C	G	IGF1R	c.265C>G	NM_000875.5	NP_000866.1:p.(Arg89Gly)	NC_000015.9:g.99250961C>G	VUS	1 lab	4b5636eb01
22:21351551 LZTR1 A>G	22	21351551	21351551	A	G	LZTR1	c.2437A>G	NM_006767.4	NP_006758.2:p.(Ser813Gly)	NC_000022.10:g.21351551A>G	VUS	1 lab	4b564c2c84
12:122261188 SETD1B G>A	12	122261188	122261188	G	A	SETD1B	c.4703G>A	NM_001353345.2	NP_001340274.1:p.(Arg1568Gln)	NC_000012.11:g.122261188G>A	(Likely) benign	1 lab	4b577ef48d
17:48151271 ITGA3 C>T	17	48151271	48151271	C	T	ITGA3	c.1157-9C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48151271C>T	(Likely) benign	1 lab	4b578b112d
20:33586914 MYH7B G>C	20	33586914	33586914	G	C	MYH7B	c.4246G>C	NM_020884.7	NP_065935.4:p.(Ala1416Pro)	NC_000020.10:g.33586914G>C	VUS	1 lab	4b586d8758
1:6166504 CHD5 C>T	1	6166504	6166504	C	T	CHD5	c.5808G>A	NM_015557.3	NP_056372.1:p.(Pro1936=)	NC_000001.10:g.6166504C>T	VUS	1 lab	4b58d4bb01
7:66458284 SBDS G>T	7	66458284	66458284	G	T	SBDS	c.379C>A	NM_016038.4	NP_057122.2:p.(Pro127Thr)	NC_000007.13:g.66458284G>T	VUS	1 lab	4b59b53c8c
2:47702161 MSH2 C>T	2	47702161	47702161	C	T	MSH2	c.1760-3C>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702161C>T	VUS	1 lab	4b5a832048
8:145738160 RECQL4 G>A	8	145738160	145738160	G	A	RECQL4	c.2756-6C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738160G>A	(Likely) benign	1 lab	4b5b70246b
17:61498067 TANC2 G>T	17	61498067	61498067	G	T	TANC2	c.4976G>T	NM_001394998.1	NP_001381927.1:p.(Gly1659Val)	NC_000017.10:g.61498067G>T	(Likely) benign	1 lab	4b5e4af76a
9:96000509 WNK2 T>C	9	96000509	96000509	T	C	WNK2	c.1234-6T>C	NM_006648.4	NP_006639.3:p.?	NC_000009.11:g.96000509T>C	(Likely) benign	1 lab	4b5ec05854
18:2772321 SMCHD1 C>T	18	2772321	2772321	C	T	SMCHD1	c.5126C>T	NM_015295.3	NP_056110.2:p.(Ser1709Leu)	NC_000018.9:g.2772321C>T	VUS	1 lab	4b601e1c9b
8:3008997 CSMD1 T>A	8	3008997	3008997	T	A	CSMD1	c.5953A>T	NM_033225.6	NP_150094.5:p.(Ile1985Phe)	NC_000008.10:g.3008997T>A	VUS	1 lab	4b628fbd6f
8:17793096 PCM1 A>G	8	17793096	17793096	A	G	PCM1	c.-22-2A>G	NM_006197.4	NP_006188.4:p.?	NC_000008.10:g.17793096A>G	VUS	1 lab	4b629620d9
16:3304405 MEFV C>G	16	3304405	3304405	C	G	MEFV	c.663G>C	NM_000243.2	NP_000234.1:p.(Pro221=)	NC_000016.9:g.3304405C>G	(Likely) benign	1 lab	1fe7bf2f5a
1:44457553 CCDC24 G>T	1	44457553	44457553	G	T	CCDC24	c.3G>T	NM_152499.4	NP_689712.1:p.(Met1?)	NC_000001.10:g.44457553G>T	VUS	1 lab	4b64fd0065
17:39977260 FKBP10 G>A	17	39977260	39977260	G	A	FKBP10	c.1318G>A	NM_021939.4	NP_068758.3:p.(Asp440Asn)	NC_000017.10:g.39977260G>A	VUS	1 lab	4b674d3e9b
15:89390611 ACAN C>G	15	89390611	89390611	C	G	ACAN	c.1567C>G	NM_001369268.1	NP_001356197.1:p.(Gln523Glu)	NC_000015.9:g.89390611C>G	VUS	1 lab	4b6776c3fa
1:39950331 MACF1 G>A	1	39950331	39950331	G	A	MACF1	c.22340G>A	NM_001394062.1	NP_001380991.1:p.(Arg7447Gln)	NC_000001.10:g.39950331G>A	(Likely) benign	1 lab	4b68b73976
9:2056765 SMARCA2 CTG>C	9	2056765	2056767	CTG	C	SMARCA2	c.1268_1269del	NM_003070.5	NP_003061.3:p.(Leu423GlnfsTer16)	NC_000009.11:g.2056766_2056767del	(Likely) pathogenic	1 lab	4b69e77ddf
11:71906489 FOLR1 C>T	11	71906489	71906489	C	T	FOLR1	c.343C>T	NM_016724.3	NP_057936.1:p.(Pro115Ser)	NC_000011.9:g.71906489C>T	VUS	1 lab	1f4e46043a
10:97380838 ALDH18A1 T>C	10	97380838	97380838	T	C	ALDH18A1	c.1417A>G	NM_002860.4	NP_002851.2:p.(Ile473Val)	NC_000010.10:g.97380838T>C	VUS	1 lab	4b6a4736c6
12:39730900 KIF21A C>G	12	39730900	39730900	C	G	KIF21A	c.2416G>C	NM_001173464.2	NP_001166935.1:p.(Asp806His)	NC_000012.11:g.39730900C>G	VUS	1 lab	4b6a4b97d9
5:71609959 MRPS27 A>G	5	71609959	71609959	A	G	MRPS27	c.100T>C	NM_015084.3	NP_055899.2:p.(Tyr34His)	NC_000005.9:g.71609959A>G	(Likely) benign	1 lab	4b6b1ffe38
20:62316946 RTEL1 A>G	20	62316946	62316946	A	G	RTEL1	c.1334A>G	NM_032957.5	NP_116575.3:p.(Tyr445Cys)	NC_000020.10:g.62316946A>G	VUS	1 lab	1f4f6867f8
8:82665470 CHMP4C A>C	8	82665470	82665470	A	C	CHMP4C	c.362A>C	NM_152284.4	NP_689497.1:p.(Glu121Ala)	NC_000008.10:g.82665470A>C	VUS	1 lab	4b6ca461c7
9:135945926 CEL T>C	9	135945926	135945926	T	C	CEL	c.1365T>C	NM_001807.6	NP_001798.3:p.(His455=)	NC_000009.11:g.135945926T>C	(Likely) benign	1 lab	4b6ce0bb32
18:19751342 GATA6 GC>G	18	19751342	19751343	GC	G	GATA6	c.238del	NM_005257.6	NP_005248.2:p.(Leu80SerfsTer57)	NC_000018.9:g.19751343del	VUS	1 lab	4b6d6a66b9
1:169816943 FIRRM A>G	1	169816943	169816943	A	G	FIRRM	c.2057A>G	NM_001320047.2	NP_001306976.1:p.(Gln686Arg)	NC_000001.10:g.169816943A>G	VUS	1 lab	4b6d81fa64
10:103827231 HPS6 G>A	10	103827231	103827231	G	A	HPS6	c.2000G>A	NM_024747.6	NP_079023.2:p.(Arg667Gln)	NC_000010.10:g.103827231G>A	VUS	1 lab	4b6dbfcefb
7:1275793 UNCX C>T	7	1275793	1275793	C	T	UNCX	c.776C>T	NM_001080461.3	NP_001073930.1:p.(Ala259Val)	NC_000007.13:g.1275793C>T	VUS	1 lab	4b6fde0f43
6:107100396 QRSL1 A>G	6	107100396	107100396	A	G	QRSL1	c.788A>G	NM_018292.5	NP_060762.3:p.(Asn263Ser)	NC_000006.11:g.107100396A>G	(Likely) benign	1 lab	4b6fec7f0e
2:168103950 XIRP2 T>C	2	168103950	168103950	T	C	XIRP2	c.6048T>C	NM_152381.6	NP_689594.4:p.(Val2016=)	NC_000002.11:g.168103950T>C	(Likely) benign	1 lab	32d3f81a7c
4:126400904 FAT4 G>A	4	126400904	126400904	G	A	FAT4	c.12488G>A	NM_001291303.3	NP_001278232.1:p.(Arg4163Lys)	NC_000004.11:g.126400904G>A	VUS	1 lab	4b7285d6e8
15:48782200 FBN1 A>C	15	48782200	48782200	A	C	FBN1	c.2930T>G	NM_000138.5	NP_000129.3:p.(Met977Arg)	NC_000015.9:g.48782200A>C	VUS	1 lab	4bbba2d4be
6:157527865 ARID1B G>A	6	157527865	157527865	G	A	ARID1B	c.5959G>A	NM_001374828.1	NP_001361757.1:p.(Asp1987Asn)	NC_000006.11:g.157527865G>A	(Likely) benign	1 lab	4b72e5fe90
1:90401062 LRRC8D G>A	1	90401062	90401062	G	A	LRRC8D	c.2435G>A	NM_001134479.2	NP_001127951.1:p.(Arg812His)	NC_000001.10:g.90401062G>A	(Likely) benign	1 lab	4b738a1b3d
15:93567784 CHD2 C>G	15	93567784	93567784	C	G	CHD2	c.5336C>G	NM_001271.4	NP_001262.3:p.(Pro1779Arg)	NC_000015.9:g.93567784C>G	(Likely) benign	1 lab	4b73ca2d28
4:69962882 UGT2B7 T>A	4	69962882	69962882	T	A	UGT2B7	c.644T>A	NM_001074.4	NP_001065.2:p.(Ile215Asn)	NC_000004.11:g.69962882T>A	VUS	1 lab	4b75518faa
X:152686977 ZFP92 C>T	X	152686977	152686977	C	T	ZFP92	c.1142C>T	NM_001136273.2	NP_001129745.1:p.(Ala381Val)	NC_000023.10:g.152686977C>T	VUS	1 lab	4b7790f42b
17:17398578 RASD1 C>T	17	17398578	17398578	C	T	RASD1	c.707G>A	NM_016084.5	NP_057168.1:p.(Gly236Asp)	NC_000017.10:g.17398578C>T	(Likely) benign	1 lab	4b78a64778
2:179605658 TTN T>C	2	179605658	179605658	T	C	TTN	c.12302A>G	NM_001267550.2	NP_001254479.2:p.(Asn4101Ser)	NC_000002.11:g.179605658T>C	(Likely) benign	1 lab	4b7b98d500
1:39920741 MACF1 G>A	1	39920741	39920741	G	A	MACF1	c.14870G>A	NM_012090.5	NP_036222.3:p.(Arg4957Gln)	NC_000001.10:g.39920741G>A	(Likely) benign	1 lab	1f53ddc91c
22:18897756 DGCR6 C>A	22	18897756	18897756	C	A	DGCR6	c.343C>A	NM_005675.6	NP_005666.2:p.(Leu115Ile)	NC_000022.10:g.18897756C>A	(Likely) benign	1 lab	4b7c5ce0a7
2:36704089 CRIM1 G>A	2	36704089	36704089	G	A	CRIM1	c.1049G>A	NM_016441.3	NP_057525.1:p.(Arg350Gln)	NC_000002.11:g.36704089G>A	VUS	1 lab	4b7d23ea1e
10:70694548 DDX50 T>C	10	70694548	70694548	T	C	DDX50	c.1402-7T>C	NM_024045.2	NP_076950.1:p.?	NC_000010.10:g.70694548T>C	(Likely) benign	1 lab	4b7d71f0ac
8:116632249 TRPS1 C>A	8	116632249	116632249	C	A	TRPS1	c.76G>T	NM_014112.5	NP_054831.2:p.(Ala26Ser)	NC_000008.10:g.116632249C>A	VUS	1 lab	4b7d9a7204
4:13602904 BOD1L1 T>G	4	13602904	13602904	T	G	BOD1L1	c.5620A>C	NM_148894.3	NP_683692.2:p.(Thr1874Pro)	NC_000004.11:g.13602904T>G	(Likely) benign	1 lab	4b7dd1f539
8:133984836 TG A>C	8	133984836	133984836	A	C	TG	c.6056-7A>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133984836A>C	(Likely) benign	1 lab	4b801fefb2
10:101595975 ABCC2 G>T	10	101595975	101595975	G	T	ABCC2	c.3542G>T	NM_000392.5	NP_000383.2:p.(Arg1181Leu)	NC_000010.10:g.101595975G>T	(Likely) benign	1 lab	4b91c6336c
9:116098559 WDR31 ATTAC>A	9	116098559	116098567	ATTAC	A	WDR31	c.-29+5_-29+8del	NM_001012361.4	NP_001012361.1:p.?	NC_000009.11:g.116098564_116098567del	(Likely) benign	1 lab	4b804daf76
10:5789582 TASOR2 T>C	10	5789582	5789582	T	C	TASOR2	c.4198T>C	NM_001321783.2	NP_001308712.2:p.(Ser1400Pro)	NC_000010.10:g.5789582T>C	(Likely) benign	1 lab	4b81206a4b
8:133141529 KCNQ3 G>C	8	133141529	133141529	G	C	KCNQ3	c.2599C>G	NM_004519.4	NP_004510.1:p.(Pro867Ala)	NC_000008.10:g.133141529G>C	VUS	1 lab	4b814f2d62
7:193399 FAM20C C>A	7	193399	193399	C	A	FAM20C	c.200C>A	NM_020223.4	NP_064608.2:p.(Pro67His)	NC_000007.13:g.193399C>A	(Likely) benign	1 lab	4b8217f42f
17:70119933 SOX9 A>G	17	70119933	70119933	A	G	SOX9	c.935A>G	NM_000346.4	NP_000337.1:p.(Gln312Arg)	NC_000017.10:g.70119933A>G	VUS	1 lab	4b83da72d0
19:11547331 PRKCSH G>A	19	11547331	11547331	G	A	PRKCSH	c.196+5G>A	NM_001289104.2	NP_001276033.1:p.?	NC_000019.9:g.11547331G>A	VUS	1 lab	4b8671ebe9
19:1047323 ABCA7 C>G	19	1047323	1047323	C	G	ABCA7	c.2013C>G	NM_019112.4	NP_061985.2:p.(Tyr671Ter)	NC_000019.9:g.1047323C>G	VUS	1 lab	4b87fc5432
4:1801175 FGFR3 G>A	4	1801175	1801175	G	A	FGFR3	c.304G>A	NM_000142.5	NP_000133.1:p.(Glu102Lys)	NC_000004.11:g.1801175G>A	(Likely) benign	1 lab	4b8ad8f4a2
12:133219102 POLE C>T	12	133219102	133219102	C	T	POLE	c.4942G>A	NM_006231.4	NP_006222.2:p.(Glu1648Lys)	NC_000012.11:g.133219102C>T	VUS	1 lab	4b8c4cef77
11:722434 EPS8L2 C>T	11	722434	722434	C	T	EPS8L2	c.1093C>T	NM_022772.4	NP_073609.2:p.(Arg365Cys)	NC_000011.9:g.722434C>T	VUS	1 lab	4bd3d8955c
22:42610360 TCF20 GT>G	22	42610360	42610362	GT	G	TCF20	c.951del	NM_001378418.1	NP_001365347.1:p.(Gln317HisfsTer12)	NC_000022.10:g.42610362del	(Likely) pathogenic	1 lab	4b8f6bb5d6
1:243736228 AKT3 C>T	1	243736228	243736228	C	T	AKT3	c.819G>A	NM_005465.7	NP_005456.1:p.(Lys273=)	NC_000001.10:g.243736228C>T	(Likely) benign	1 lab	4b8f7159b6
19:50916772 POLD1 T>C	19	50916772	50916772	T	C	POLD1	c.2244T>C	NM_002691.4	NP_002682.2:p.(Ser748=)	NC_000019.9:g.50916772T>C	(Likely) benign	1 lab	4b90b7aeff
11:45950254 LARGE2 G>A	11	45950254	45950254	G	A	LARGE2	c.2024G>A	NM_001300721.2	NP_001287650.1:p.(Arg675His)	NC_000011.9:g.45950254G>A	VUS	1 lab	4b9108bb53
3:41275679 CTNNB1 C>T	3	41275679	41275679	C	T	CTNNB1	c.1574C>T	NM_001904.4	NP_001895.1:p.(Ala525Val)	NC_000003.11:g.41275679C>T	VUS	1 lab	1f591ae3ab
12:58350553 ATP23 A>C	12	58350553	58350553	A	C	ATP23	c.621A>C	NM_033276.4	NP_150592.1:p.(Glu207Asp)	NC_000012.11:g.58350553A>C	VUS	1 lab	4b9a737a44
2:5833563 SOX11 T>A	2	5833563	5833563	T	A	SOX11	c.710T>A	NM_003108.4	NP_003099.1:p.(Leu237Gln)	NC_000002.11:g.5833563T>A	VUS	1 lab	4b9c59f844
14:21862148 CHD8 C>A	14	21862148	21862148	C	A	CHD8	c.5806G>T	NM_001170629.2	NP_001164100.1:p.(Gly1936Trp)	NC_000014.8:g.21862148C>A	VUS	1 lab	4b9cbc4954
11:64360260 SLC22A12 G>A	11	64360260	64360260	G	A	SLC22A12	c.412G>A	NM_144585.4	NP_653186.2:p.(Val138Met)	NC_000011.9:g.64360260G>A	(Likely) pathogenic	1 lab	1fecaa6f2a
20:44642897 MMP9 G>A	20	44642897	44642897	G	A	MMP9	c.1885G>A	NM_004994.3	NP_004985.2:p.(Gly629Arg)	NC_000020.10:g.44642897G>A	(Likely) benign	1 lab	4b9e1a234c
21:45948454 TSPEAR C>T	21	45948454	45948454	C	T	TSPEAR	c.803G>A	NM_144991.3	NP_659428.2:p.(Arg268Gln)	NC_000021.8:g.45948454C>T	VUS	1 lab	4c47cd092c
16:2168736 PKD1 C>T	16	2168736	2168736	C	T	PKD1	c.470G>A	NM_001009944.3	NP_001009944.3:p.(Gly157Glu)	NC_000016.9:g.2168736C>T	(Likely) benign	1 lab	4b9e59d1ec
8:144999331 PLEC G>A	8	144999331	144999331	G	A	PLEC	c.4766C>T	NM_201384.3	NP_958786.1:p.(Thr1589Met)	NC_000008.10:g.144999331G>A	VUS	1 lab	4ba2b0f860
2:149247783 MBD5 C>A	2	149247783	149247783	C	A	MBD5	c.4582C>A	NM_001378120.1	NP_001365049.1:p.(Pro1528Thr)	NC_000002.11:g.149247783C>A	VUS	1 lab	4ba897ed83
15:91419548 FURIN C>T	15	91419548	91419548	C	T	FURIN	c.241C>T	NM_002569.4	NP_002560.1:p.(Arg81Cys)	NC_000015.9:g.91419548C>T	VUS	1 lab	4ba8bc7180
15:23686207 GOLGA6L2 T>G	15	23686207	23686207	T	G	GOLGA6L2	c.1415A>C	NM_001304388.2	NP_001291317.1:p.(Lys472Thr)	NC_000015.9:g.23686207T>G	VUS	1 lab	4baa0c016f
5:178410107 GRM6 G>A	5	178410107	178410107	G	A	GRM6	c.2240C>T	NM_000843.4	NP_000834.2:p.(Ser747Leu)	NC_000005.9:g.178410107G>A	VUS	1 lab	4bab013463
22:20783897 SCARF2 G>C	22	20783897	20783897	G	C	SCARF2	c.1350C>G	NM_153334.7	NP_699165.3:p.(Leu450=)	NC_000022.10:g.20783897G>C	(Likely) benign	1 lab	1fed37d2e3
X:100515152 DRP2 G>C	X	100515152	100515152	G	C	DRP2	c.2743G>C	NM_001939.3	NP_001930.2:p.(Ala915Pro)	NC_000023.10:g.100515152G>C	VUS	1 lab	4bacf70fa3
X:103495090 ESX1 G>GGCGCCATGGGCGGCCCGGGTGGCACAC	X	103495090	103495170	G	GGCGCCATGGGCGGCCCGGGTGGCACAC	ESX1	c.1013_1039dup	NM_153448.4	NP_703149.1:p.(Arg338_Ala346dup)	NC_000023.10:g.103495144_103495170dup	(Likely) benign	1 lab	4bae4c2b50
11:76901067 MYO7A C>T	11	76901067	76901067	C	T	MYO7A	c.3633C>T	NM_000260.4	NP_000251.3:p.(Tyr1211=)	NC_000011.9:g.76901067C>T	(Likely) benign	1 lab	4bb05816b6
20:49509195 ADNP GAA>G	20	49509195	49509197	GAA	G	ADNP	c.2054_2055del	NM_001282531.3	NP_001269460.1:p.(Val685AlafsTer14)	NC_000020.10:g.49509196_49509197del	(Likely) pathogenic	1 lab	4bb076c9e0
20:62325032 RTEL1 C>G	20	62325032	62325032	C	G	RTEL1	c.2992+396C>G	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62325032C>G	(Likely) benign	1 lab	4bb09a5c39
5:13886243 DNAH5 CCAA>C	5	13886243	13886246	CCAA	C	DNAH5	c.2578-8_2578-6del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886244_13886246del	(Likely) benign	1 lab	4bb359bada
7:141765421 MGAM A>T	7	141765421	141765421	A	T	MGAM	c.4652A>T	NM_001365693.1	NP_001352622.1:p.(Tyr1551Phe)	NC_000007.13:g.141765421A>T	(Likely) benign	1 lab	4bb524b4d8
4:5743520 EVC G>A	4	5743520	5743520	G	A	EVC	c.780G>A	NM_153717.3	NP_714928.1:p.(Lys260=)	NC_000004.11:g.5743520G>A	(Likely) benign	1 lab	4bb67cccad
19:11287426 KANK2 C>T	19	11287426	11287426	C	T	KANK2	c.1588G>A	NM_001136191.3	NP_001129663.1:p.(Glu530Lys)	NC_000019.9:g.11287426C>T	VUS	1 lab	4bb6d8b472
14:103400102 CDC42BPB G>T	14	103400102	103400102	G	T	CDC42BPB	c.5083C>A	NM_006035.4	NP_006026.3:p.(His1695Asn)	NC_000014.8:g.103400102G>T	(Likely) benign	1 lab	4bb6e33ab8
16:69368802 COG8 CAG>C	16	69368802	69368808	CAG	C	COG8	c.1033_1034del	NM_032382.5	NP_115758.3:p.(Leu345AlafsTer17)	NC_000016.9:g.69368807_69368808del	VUS	1 lab	4bb96262dd
19:19627142 NDUFA13 G>A	19	19627142	19627142	G	A	NDUFA13	c.94+1G>A	NM_015965.7	NP_057049.5:p.?	NC_000019.9:g.19627142G>A	(Likely) pathogenic	1 lab	4bba127958
8:133854766 PHF20L1 ACAT>A	8	133854766	133854773	ACAT	A	PHF20L1	c.2399_2401del	NM_016018.5	NP_057102.4:p.(His800del)	NC_000008.10:g.133854771_133854773del	VUS	1 lab	4bbbc3460f
9:20823022 FOCAD A>G	9	20823022	20823022	A	G	FOCAD	c.1828A>G	NM_001375567.1	NP_001362496.1:p.(Ile610Val)	NC_000009.11:g.20823022A>G	(Likely) benign	1 lab	4bbd49471c
16:20357568 UMOD G>A	16	20357568	20357568	G	A	UMOD	c.1062C>T	NM_003361.3	NP_003352.2:p.(Phe354=)	NC_000016.9:g.20357568G>A	(Likely) benign	1 lab	1ff0899a43
10:16556627 C1QL3 G>A	10	16556627	16556627	G	A	C1QL3	c.668C>T	NM_001010908.2	NP_001010908.1:p.(Pro223Leu)	NC_000010.10:g.16556627G>A	VUS	1 lab	4bbe3bace2
2:109545658 EDAR G>A	2	109545658	109545658	G	A	EDAR	c.352C>T	NM_022336.4	NP_071731.1:p.(Pro118Ser)	NC_000002.11:g.109545658G>A	VUS	1 lab	4bbe4424e3
2:230633401 TRIP12 T>C	2	230633401	230633401	T	C	TRIP12	c.5938A>G	NM_001348323.3	NP_001335252.1:p.(Ser1980Gly)	NC_000002.11:g.230633401T>C	VUS	1 lab	4bbffe8dd9
15:93567823 CHD2 C>G	15	93567823	93567823	C	G	CHD2	c.5375C>G	NM_001271.4	NP_001262.3:p.(Ser1792Cys)	NC_000015.9:g.93567823C>G	(Likely) benign	1 lab	4bc07827f1
3:45017795 EXOSC7 C>T	3	45017795	45017795	C	T	EXOSC7	c.26C>T	NM_015004.4	NP_055819.2:p.(Ala9Val)	NC_000003.11:g.45017795C>T	VUS	1 lab	4bc1cda482
1:35485027 ZMYM6 G>A	1	35485027	35485027	G	A	ZMYM6	c.355C>T	NM_007167.4	NP_009098.3:p.(Arg119Ter)	NC_000001.10:g.35485027G>A	VUS	1 lab	4bc2ceaf64
3:53263341 TKT C>T	3	53263341	53263341	C	T	TKT	c.1219G>A	NM_001064.4	NP_001055.1:p.(Glu407Lys)	NC_000003.11:g.53263341C>T	VUS	1 lab	4c7c1e71f5
2:241657498 KIF1A C>T	2	241657498	241657498	C	T	KIF1A	c.5302G>A	NM_001244008.2	NP_001230937.1:p.(Ala1768Thr)	NC_000002.11:g.241657498C>T	VUS	1 lab	4bc3303930
4:1803275 FGFR3 G>A	4	1803275	1803275	G	A	FGFR3	c.615+12G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803275G>A	(Likely) benign	1 lab	4bc348a009
2:152432811 NEB A>T	2	152432811	152432811	A	T	NEB	c.16762T>A	NM_001164508.2	NP_001157980.2:p.(Ser5588Thr)	NC_000002.11:g.152432811A>T	(Likely) benign	1 lab	4bc536857e
12:102813438 IGF1 C>T	12	102813438	102813438	C	T	IGF1	c.251G>A	NM_000618.5	NP_000609.1:p.(Arg84Gln)	NC_000012.11:g.102813438C>T	(Likely) pathogenic	1 lab	4bc5ea6690
16:3647637 SLX4 A>G	16	3647637	3647637	A	G	SLX4	c.1426T>C	NM_032444.4	NP_115820.2:p.(Ser476Pro)	NC_000016.9:g.3647637A>G	VUS	1 lab	4cdd6033dc
7:142609710 TRPV5 C>T	7	142609710	142609710	C	T	TRPV5	c.1726G>A	NM_019841.7	NP_062815.3:p.(Ala576Thr)	NC_000007.13:g.142609710C>T	(Likely) benign	1 lab	4bc7190e60
22:18355576 MICAL3 C>A	22	18355576	18355576	C	A	MICAL3	c.2242-787G>T	NM_015241.3	NP_056056.2:p.?	NC_000022.10:g.18355576C>A	VUS	1 lab	4bc7628ad6
17:7751612 KDM6B G>A	17	7751612	7751612	G	A	KDM6B	c.2006G>A	NM_001348716.2	NP_001335645.1:p.(Arg669Gln)	NC_000017.10:g.7751612G>A	(Likely) benign	1 lab	4bc79a5895
1:230898528 CAPN9 G>A	1	230898528	230898528	G	A	CAPN9	c.532G>A	NM_006615.3	NP_006606.1:p.(Ala178Thr)	NC_000001.10:g.230898528G>A	VUS	1 lab	4bc9d26142
X:123468109 TEX13D G>A	X	123468109	123468109	G	A	TEX13D	c.1342G>A	NM_001355534.2	NP_001342463.1:p.(Gly448Arg)	NC_000023.10:g.123468109G>A	(Likely) benign	1 lab	4bca0c325b
17:40665900 ATP6V0A1 G>A	17	40665900	40665900	G	A	ATP6V0A1	c.2152G>A	NM_001130021.3	NP_001123493.1:p.(Val718Ile)	NC_000017.10:g.40665900G>A	VUS	1 lab	4bcd59b487
14:103406566 CDC42BPB T>C	14	103406566	103406566	T	C	CDC42BPB	c.4504A>G	NM_006035.4	NP_006026.3:p.(Arg1502Gly)	NC_000014.8:g.103406566T>C	(Likely) benign	1 lab	4bceea2f0d
19:13386742 CACNA1A T>C	19	13386742	13386742	T	C	CACNA1A	c.3911A>G	NM_001127222.2	NP_001120694.1:p.(Gln1304Arg)	NC_000019.9:g.13386742T>C	(Likely) benign	1 lab	4bcf3a0e36
5:176618970 NSD1 C>T	5	176618970	176618970	C	T	NSD1	c.1013C>T	NM_022455.5	NP_071900.2:p.(Pro338Leu)	NC_000005.9:g.176618970C>T	VUS	1 lab	4bcf533a9a
X:18221904 BEND2 A>C	X	18221904	18221904	A	C	BEND2	c.624T>G	NM_153346.5	NP_699177.2:p.(Tyr208Ter)	NC_000023.10:g.18221904A>C	VUS	1 lab	4bcfaac880
9:101984001 ALG2 C>T	9	101984001	101984001	C	T	ALG2	c.176G>A	NM_033087.4	NP_149078.1:p.(Cys59Tyr)	NC_000009.11:g.101984001C>T	VUS	1 lab	4bd04d4aeb
2:27167639 DPYSL5 T>C	2	27167639	27167639	T	C	DPYSL5	c.1556T>C	NM_020134.4	NP_064519.2:p.(Val519Ala)	NC_000002.11:g.27167639T>C	(Likely) benign	1 lab	4bd1bc4bde
X:71521800 CITED1 CT>GG	X	71521800	71521801	CT	GG	CITED1	c.354_355delinsCC	NM_001144887.2	NP_001138359.1:p.(Gly119Arg)	NC_000023.10:g.71521800_71521801delinsGG	VUS	1 lab	4bd8ab0f99
11:108124719 ATM T>C	11	108124719	108124719	T	C	ATM	c.2077T>C	NM_000051.4	NP_000042.3:p.(Cys693Arg)	NC_000011.9:g.108124719T>C	(Likely) benign	1 lab	4bd912bf75
14:92563159 ATXN3 T>C	14	92563159	92563159	T	C	ATXN3	c.48A>G	NM_004993.6	NP_004984.2:p.(Gln16=)	NC_000014.8:g.92563159T>C	VUS	1 lab	4bd9589498
15:28502342 HERC2 GATG>AATA	15	28502342	28502345	GATG	AATA	HERC2	c.2379_2382delinsTATT	NM_004667.6	NP_004658.3:p.(Asp793_Ile794=)	NC_000015.9:g.28502342_28502345delinsAATA	(Likely) benign	1 lab	4bd9cf208b
9:135947088 CEL T>C	9	135947088	135947088	T	C	CEL	c.2199T>C	NM_001807.6	NP_001798.3:p.(Ala733=)	NC_000009.11:g.135947088T>C	(Likely) benign	1 lab	4bda6fefc2
11:1471922 BRSK2 C>A	11	1471922	1471922	C	A	BRSK2	c.1393C>A	NM_001256627.2	NP_001243556.1:p.(Pro465Thr)	NC_000011.9:g.1471922C>A	VUS	1 lab	1f63003733
3:49569634 DAG1 C>T	3	49569634	49569634	C	T	DAG1	c.1690C>T	NM_004393.6	NP_004384.5:p.(Leu564Phe)	NC_000003.11:g.49569634C>T	VUS	1 lab	4bdedbc62b
19:16860337 NWD1 A>G	19	16860337	16860337	A	G	NWD1	c.884A>G	NM_001007525.5	NP_001007526.3:p.(Tyr295Cys)	NC_000019.9:g.16860337A>G	VUS	1 lab	4bdfb8cabc
12:124293452 DNAH10 C>T	12	124293452	124293452	C	T	DNAH10	c.3096C>T	NM_001372106.1	NP_001359035.1:p.(Ile1032=)	NC_000012.11:g.124293452C>T	VUS	1 lab	4be05b1ca2
16:23647149 PALB2 GTCT>G	16	23647149	23647156	GTCT	G	PALB2	c.715_717del	NM_024675.4	NP_078951.2:p.(Arg239del)	NC_000016.9:g.23647154_23647156del	VUS	1 lab	4be10d9c79
1:63024857 DOCK7 T>C	1	63024857	63024857	T	C	DOCK7	c.2234A>G	NM_001367561.1	NP_001354490.1:p.(Asn745Ser)	NC_000001.10:g.63024857T>C	VUS	1 lab	4be1d88d3e
7:1526709 INTS1 G>A	7	1526709	1526709	G	A	INTS1	c.2675C>T	NM_001080453.3	NP_001073922.2:p.(Ala892Val)	NC_000007.13:g.1526709G>A	VUS	1 lab	4be25b713b
11:72004452 CLPB G>A	11	72004452	72004452	G	A	CLPB	c.1948C>T	NM_001258394.2	NP_001245323.1:p.(Arg650Trp)	NC_000011.9:g.72004452G>A	(Likely) benign	1 lab	1ff9f21fe6
1:86952332 CLCA1 A>G	1	86952332	86952332	A	G	CLCA1	c.1078A>G	NM_001285.4	NP_001276.3:p.(Ile360Val)	NC_000001.10:g.86952332A>G	(Likely) benign	1 lab	4be38891a7
16:71795706 AP1G1 C>A	16	71795706	71795706	C	A	AP1G1	c.919-236G>T	NM_001128.6	NP_001119.3:p.?	NC_000016.9:g.71795706C>A	(Likely) benign	1 lab	4be4b55d39
9:72000689 ENTREP1 TTTTTTTTTTTTTTTA>T	9	72000689	72000704	TTTTTTTTTTTTTTTA	T	ENTREP1	c.1163-21_1163-7del	NM_001347995.2	NP_001334924.1:p.?	NC_000009.11:g.72000690_72000704del	(Likely) benign	1 lab	4be56b50ab
17:7752332 KDM6B C>A	17	7752332	7752332	C	A	KDM6B	c.2726C>A	NM_001348716.2	NP_001335645.1:p.(Ser909Tyr)	NC_000017.10:g.7752332C>A	VUS	1 lab	4be6139aff
16:65005606 CDH11 G>A	16	65005606	65005606	G	A	CDH11	c.1525-7C>T	NM_001797.4	NP_001788.2:p.?	NC_000016.9:g.65005606G>A	(Likely) benign	1 lab	4be61ba766
3:151164045 IGSF10 A>T	3	151164045	151164045	A	T	IGSF10	c.3724T>A	NM_178822.5	NP_849144.2:p.(Leu1242Ile)	NC_000003.11:g.151164045A>T	VUS	1 lab	4be847afb7
2:27666870 KRTCAP3 C>G	2	27666870	27666870	C	G	KRTCAP3	c.670C>G	NM_001168364.2	NP_001161836.1:p.(Gln224Glu)	NC_000002.11:g.27666870C>G	VUS	1 lab	1f64302fc3
7:77789571 MAGI2 G>A	7	77789571	77789571	G	A	MAGI2	c.2616C>T	NM_012301.4	NP_036433.2:p.(Asn872=)	NC_000007.13:g.77789571G>A	(Likely) benign	1 lab	1ffa1585ab
19:18266980 PIK3R2 C>T	19	18266980	18266980	C	T	PIK3R2	c.291C>T	NM_005027.4	NP_005018.2:p.(Pro97=)	NC_000019.9:g.18266980C>T	(Likely) benign	1 lab	4bec02c4f7
X:91518138 PCDH11X G>A	X	91518138	91518138	G	A	PCDH11X	c.3140G>A	NM_032968.5	NP_116750.1:p.(Gly1047Glu)	NC_000023.10:g.91518138G>A	(Likely) benign	1 lab	4becbb1289
3:168833870 MECOM G>A	3	168833870	168833870	G	A	MECOM	c.1790C>T	NM_004991.4	NP_004982.2:p.(Ser597Leu)	NC_000003.11:g.168833870G>A	VUS	1 lab	4bed62d278
13:31719776 HSPH1 G>T	13	31719776	31719776	G	T	HSPH1	c.1508C>A	NM_006644.4	NP_006635.2:p.(Thr503Asn)	NC_000013.10:g.31719776G>T	VUS	1 lab	4bedf436dc
11:64123095 CCDC88B G>A	11	64123095	64123095	G	A	CCDC88B	c.4370G>A	NM_032251.6	NP_115627.6:p.(Arg1457Gln)	NC_000011.9:g.64123095G>A	VUS	1 lab	4bee9408a6
17:62050084 SCN4A G>A	17	62050084	62050084	G	A	SCN4A	c.118C>T	NM_000334.4	NP_000325.4:p.(Gln40Ter)	NC_000017.10:g.62050084G>A	VUS	1 lab	4bf0865a24
17:36099636 HNF1B C>CAA	17	36099636	36099638	C	CAA	HNF1B	c.345-7_345-6insTT	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36099637_36099638insAA	VUS	1 lab	4bf0c02908
1:233190139 PCNX2 C>T	1	233190139	233190139	C	T	PCNX2	c.4226G>A	NM_014801.4	NP_055616.3:p.(Arg1409His)	NC_000001.10:g.233190139C>T	VUS	1 lab	4bf17795f8
12:48272745 VDR G>A	12	48272745	48272745	G	A	VDR	c.146+6C>T	NM_000376.3	NP_000367.1:p.?	NC_000012.11:g.48272745G>A	(Likely) benign	1 lab	4bf22c27f1
16:2165391 PKD1 G>A	16	2165391	2165391	G	A	PKD1	c.2085C>T	NM_001009944.2	NP_001009944.2:p.(Pro695=)	NC_000016.9:g.2165391G>A	(Likely) benign	1 lab	32d4d245e0
10:18250600 SLC39A12 C>A	10	18250600	18250600	C	A	SLC39A12	c.352C>A	NM_001145195.2	NP_001138667.1:p.(Leu118Ile)	NC_000010.10:g.18250600C>A	VUS	1 lab	1f64f2e90c
10:43612012 RET T>G	10	43612012	43612012	T	G	RET	c.2137-20T>G	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43612012T>G	(Likely) benign	1 lab	4bf2d18ca8
9:35808651 NPR2 A>G	9	35808651	35808651	A	G	NPR2	c.2858A>G	NM_003995.4	NP_003986.2:p.(Gln953Arg)	NC_000009.11:g.35808651A>G	(Likely) benign	1 lab	4bf2f95557
22:42606343 TCF20 GTTC>G	22	42606343	42606352	GTTC	G	TCF20	c.4966_4968del	NM_001378418.1	NP_001365347.1:p.(Glu1656del)	NC_000022.10:g.42606350_42606352del	(Likely) benign	1 lab	4bf3ded650
14:105205720 ADSS1 G>A	14	105205720	105205720	G	A	ADSS1	c.409+5G>A	NM_152328.5	NP_689541.1:p.?	NC_000014.8:g.105205720G>A	(Likely) benign	1 lab	4bf77c594b
X:41029858 USP9X T>C	X	41029858	41029858	T	C	USP9X	c.3013T>C	NM_001039591.3	NP_001034680.2:p.(Cys1005Arg)	NC_000023.10:g.41029858T>C	VUS	1 lab	4bf84041ea
10:93011093 PCGF5 G>T	10	93011093	93011093	G	T	PCGF5	c.370G>T	NM_032373.5	NP_115749.2:p.(Asp124Tyr)	NC_000010.10:g.93011093G>T	VUS	1 lab	4bf99f0c88
15:48766547 FBN1 T>C	15	48766547	48766547	T	C	FBN1	c.4115A>G	NM_000138.5	NP_000129.3:p.(His1372Arg)	NC_000015.9:g.48766547T>C	VUS	1 lab	4bfa014106
1:197403978 CRB1 G>T	1	197403978	197403978	G	T	CRB1	c.2985G>T	NM_201253.3	NP_957705.1:p.(Glu995Asp)	NC_000001.10:g.197403978G>T	VUS	1 lab	4bfc465949
3:48896009 SLC25A20 C>T	3	48896009	48896009	C	T	SLC25A20	c.774G>A	NM_000387.6	NP_000378.1:p.(Arg258=)	NC_000003.11:g.48896009C>T	(Likely) benign	1 lab	1f685522e5
1:161475798 FCGR2A G>T	1	161475798	161475798	G	T	FCGR2A	c.106+1G>T	NM_001136219.3	NP_001129691.1:p.?	NC_000001.10:g.161475798G>T	VUS	1 lab	4bfcd995a6
22:38516896 PLA2G6 G>T	22	38516896	38516896	G	T	PLA2G6	c.1612C>A	NM_003560.4	NP_003551.2:p.(Arg538Ser)	NC_000022.10:g.38516896G>T	VUS	1 lab	4bfd5f5eef
12:22069916 ABCC9 C>T	12	22069916	22069916	C	T	ABCC9	c.528G>A	NM_020297.4	NP_064693.2:p.(Leu176=)	NC_000012.11:g.22069916C>T	(Likely) benign	1 lab	4bfdb0b780
19:4556104 SEMA6B G>A	19	4556104	4556104	G	A	SEMA6B	c.370-3C>T	NM_032108.4	NP_115484.2:p.?	NC_000019.9:g.4556104G>A	(Likely) benign	1 lab	4bfe349adb
5:74439882 ANKRD31 T>C	5	74439882	74439882	T	C	ANKRD31	c.3539A>G	NM_001372053.1	NP_001358982.1:p.(Lys1180Arg)	NC_000005.9:g.74439882T>C	(Likely) benign	1 lab	4c016aeb68
7:44189409 GCK A>G	7	44189409	44189409	A	G	GCK	c.629T>C	NM_000162.5	NP_000153.1:p.(Met210Thr)	NC_000007.13:g.44189409A>G	(Likely) pathogenic	1 lab	4c0275dbfd
X:140993926 MAGEC1 CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAG>C	X	140993926	140994049	CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAG	C	MAGEC1	c.755_859del	NM_005462.5	NP_005453.2:p.(Phe252_Ser286del)	NC_000023.10:g.140993945_140994049del	(Likely) benign	1 lab	4c02b2f81d
3:143082414 SLC9A9 A>G	3	143082414	143082414	A	G	SLC9A9	c.1525-9T>C	NM_173653.4	NP_775924.1:p.?	NC_000003.11:g.143082414A>G	(Likely) benign	1 lab	4c03706859
5:132083209 CCNI2 C>T	5	132083209	132083209	C	T	CCNI2	c.22C>T	NM_001039780.4	NP_001034869.1:p.(Pro8Ser)	NC_000005.9:g.132083209C>T	(Likely) benign	1 lab	4c04889b9a
2:145156245 ZEB2 T>C	2	145156245	145156245	T	C	ZEB2	c.2509A>G	NM_014795.4	NP_055610.1:p.(Thr837Ala)	NC_000002.11:g.145156245T>C	(Likely) benign	1 lab	4c049099f9
4:79188480 FRAS1 G>A	4	79188480	79188480	G	A	FRAS1	c.875G>A	NM_025074.7	NP_079350.5:p.(Arg292Gln)	NC_000004.11:g.79188480G>A	VUS	1 lab	4c072e4459
X:47435639 SYN1 AGACAAAG>A	X	47435639	47435647	AGACAAAG	A	SYN1	c.1056-14_1056-8del	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47435641_47435647del	(Likely) benign	1 lab	4c080a2cf7
20:60885553 LAMA5 C>T	20	60885553	60885553	C	T	LAMA5	c.10522G>A	NM_005560.6	NP_005551.3:p.(Ala3508Thr)	NC_000020.10:g.60885553C>T	(Likely) benign	1 lab	4c081f06d3
20:30956828 ASXL1 C>G	20	30956828	30956828	C	G	ASXL1	c.154C>G	NM_015338.6	NP_056153.2:p.(Pro52Ala)	NC_000020.10:g.30956828C>G	VUS	1 lab	4c08546ffb
X:135104804 SLC9A6 G>T	X	135104804	135104804	G	T	SLC9A6	c.1254G>T	NM_001379110.1	NP_001366039.1:p.(Leu418Phe)	NC_000023.10:g.135104804G>T	(Likely) benign	1 lab	4c0953f9dc
1:33957149 ZSCAN20 G>A	1	33957149	33957149	G	A	ZSCAN20	c.1291G>A	NM_001377376.1	NP_001364305.1:p.(Gly431Arg)	NC_000001.10:g.33957149G>A	VUS	1 lab	4c09d2984e
5:127641279 FBN2 G>C	5	127641279	127641279	G	C	FBN2	c.5598C>G	NM_001999.4	NP_001990.2:p.(Asp1866Glu)	NC_000005.9:g.127641279G>C	VUS	1 lab	4c0b02f559
17:42335127 SLC4A1 G>T	17	42335127	42335127	G	T	SLC4A1	c.1331C>A	NM_000342.4	NP_000333.1:p.(Thr444Asn)	NC_000017.10:g.42335127G>T	(Likely) benign	1 lab	4c0bf6fc72
3:9517217 SETD5 G>C	3	9517217	9517217	G	C	SETD5	c.3771G>C	NM_001080517.3	NP_001073986.1:p.(Gln1257His)	NC_000003.11:g.9517217G>C	(Likely) benign	1 lab	4c0d320d12
13:20763721 GJB2 C>T	13	20763721	20763721	C	T	GJB2	c.-1G>A	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20763721C>T	(Likely) benign	1 lab	4c0d3a03f2
3:81586149 GBE1 G>A	3	81586149	81586149	G	A	GBE1	c.1716C>T	NM_000158.4	NP_000149.4:p.(Asp572=)	NC_000003.11:g.81586149G>A	(Likely) benign	1 lab	4c0d4e45a7
17:29553505 NF1 C>A	17	29553505	29553505	C	A	NF1	c.2054C>A	NM_001042492.3	NP_001035957.1:p.(Thr685Asn)	NC_000017.10:g.29553505C>A	VUS	1 lab	4c0e189ade
15:42678480 CAPN3 C>T	15	42678480	42678480	C	T	CAPN3	c.495C>T	NM_000070.3	NP_000061.1:p.(Phe165=)	NC_000015.9:g.42678480C>T	(Likely) benign	1 lab	4c1232c26b
4:3076623 HTT AGCAG>A	4	3076623	3076627	AGCAG	A	HTT	c.72_75del	NM_001388492.1	NP_001375421.1:p.(Gln24HisfsTer76)	NC_000004.11:g.3076624_3076627del	(Likely) benign	1 lab	4c13021af0
7:912195 SUN1 C>T	7	912195	912195	C	T	SUN1	c.2237C>T	NM_001130965.3	NP_001124437.1:p.(Ala746Val)	NC_000007.13:g.912195C>T	VUS	1 lab	4c149341cb
15:100672243 ADAMTS17 G>A	15	100672243	100672243	G	A	ADAMTS17	c.1690C>T	NM_139057.4	NP_620688.2:p.(Arg564Cys)	NC_000015.9:g.100672243G>A	VUS	1 lab	4c18040223
20:49509566 ADNP A>ATGTT	20	49509566	49509570	A	ATGTT	ADNP	c.1681_1684dup	NM_001282531.3	NP_001269460.1:p.(Ile562LysfsTer17)	NC_000020.10:g.49509567_49509570dup	(Likely) pathogenic	1 lab	4c18d86cce
5:60827423 ZSWIM6 C>G	5	60827423	60827423	C	G	ZSWIM6	c.2116C>G	NM_020928.2	NP_065979.1:p.(Pro706Ala)	NC_000005.9:g.60827423C>G	VUS	1 lab	4c1a70233b
18:32446154 DTNA G>A	18	32446154	32446154	G	A	DTNA	c.*29G>A	NM_032978.7	NP_116760.2:p.?	NC_000018.9:g.32446154G>A	(Likely) benign	1 lab	32d4f80390
16:3706976 DNASE1 C>G	16	3706976	3706976	C	G	DNASE1	c.437-24C>G	NM_005223.4	NP_005214.2:p.?	NC_000016.9:g.3706976C>G	VUS	1 lab	4c1d86e28e
15:89399913 ACAN C>T	15	89399913	89399913	C	T	ACAN	c.4097C>T	NM_001369268.1	NP_001356197.1:p.(Ala1366Val)	NC_000015.9:g.89399913C>T	VUS	1 lab	4c1e0adcbb
12:53070145 KRT1 G>A	12	53070145	53070145	G	A	KRT1	c.1389C>T	NM_006121.4	NP_006112.3:p.(Arg463=)	NC_000012.11:g.53070145G>A	(Likely) benign	1 lab	1f6d487d40
14:68045953 PLEKHH1 C>T	14	68045953	68045953	C	T	PLEKHH1	c.2952C>T	NM_020715.3	NP_065766.1:p.(Ser984=)	NC_000014.8:g.68045953C>T	(Likely) benign	1 lab	4c202acc77
22:50962155 SCO2 T>C	22	50962155	50962155	T	C	SCO2	c.686A>G	NM_005138.3	NP_005129.2:p.(Tyr229Cys)	NC_000022.10:g.50962155T>C	VUS	1 lab	4c220be44f
11:45958038 PHF21A T>G	11	45958038	45958038	T	G	PHF21A	c.1684+7A>C	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45958038T>G	(Likely) benign	1 lab	4c24cc6322
2:11359088 ROCK2 G>A	2	11359088	11359088	G	A	ROCK2	c.1320+4C>T	NM_004850.5	NP_004841.2:p.?	NC_000002.11:g.11359088G>A	(Likely) benign	1 lab	4c24f89f0b
15:93467598 CHD2 C>T	15	93467598	93467598	C	T	CHD2	c.110C>T	NM_001271.4	NP_001262.3:p.(Ser37Leu)	NC_000015.9:g.93467598C>T	VUS	1 lab	4c25f3b425
4:88537491 DSPP G>A	4	88537491	88537491	G	A	DSPP	c.3677G>A	NM_014208.3	NP_055023.2:p.(Ser1226Asn)	NC_000004.11:g.88537491G>A	(Likely) benign	1 lab	4c27a02db4
7:92027853 ANKIB1 A>G	7	92027853	92027853	A	G	ANKIB1	c.2860A>G	NM_019004.2	NP_061877.1:p.(Ser954Gly)	NC_000007.13:g.92027853A>G	(Likely) benign	1 lab	4c27a6e691
16:89849295 FANCA T>C	16	89849295	89849295	T	C	FANCA	c.1598A>G	NM_000135.4	NP_000126.2:p.(Asp533Gly)	NC_000016.9:g.89849295T>C	VUS	1 lab	4c2945cb78
2:48132713 FBXO11 C>CGGCGGCGGCGGAGGCTGCTGCTGG	2	48132713	48132743	C	CGGCGGCGGCGGAGGCTGCTGCTGG	FBXO11	c.123_146dup	NM_001190274.2	NP_001177203.1:p.(Pro45_Gln52dup)	NC_000002.11:g.48132720_48132743dup	VUS	1 lab	4c2aab6e00
19:45391620 NECTIN2 G>A	19	45391620	45391620	G	A	NECTIN2	c.1601G>A	NM_001042724.2	NP_001036189.1:p.(Arg534Gln)	NC_000019.9:g.45391620G>A	VUS	1 lab	4c2bdab5ca
5:61876498 IPO11 AT>A	5	61876498	61876499	AT	A	IPO11	c.2583-10905del	NM_016338.5	NP_057422.3:p.?	NC_000005.9:g.61876499del	VUS	1 lab	4c2c2bf5c7
5:80083371 MSH3 G>T	5	80083371	80083371	G	T	MSH3	c.2436-13G>T	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80083371G>T	(Likely) benign	1 lab	4c2c500b01
16:2096331 NTHL1 C>T	16	2096331	2096331	C	T	NTHL1	c.152G>A	NM_002528.7	NP_002519.2:p.(Arg51Gln)	NC_000016.9:g.2096331C>T	(Likely) benign	1 lab	4c2c7aa640
X:48925199 CCDC120 C>A	X	48925199	48925199	C	A	CCDC120	c.1549C>A	NM_001163321.4	NP_001156793.2:p.(Leu517Ile)	NC_000023.10:g.48925199C>A	(Likely) benign	1 lab	4c2e45d222
4:1808832 FGFR3 C>T	4	1808832	1808832	C	T	FGFR3	c.2275-11C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808832C>T	(Likely) benign	1 lab	4c2eaf3a95
6:17987649 KIF13A T>G	6	17987649	17987649	T	G	KIF13A	c.46A>C	NM_022113.6	NP_071396.4:p.(Asn16His)	NC_000006.11:g.17987649T>G	(Likely) benign	1 lab	4c32c23fee
17:79104944 AATK G>T	17	79104944	79104944	G	T	AATK	c.251C>A	NM_001080395.3	NP_001073864.2:p.(Thr84Lys)	NC_000017.10:g.79104944G>T	(Likely) benign	1 lab	4c33066ddb
7:128492871 FLNC A>T	7	128492871	128492871	A	T	FLNC	c.6005-11A>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128492871A>T	(Likely) benign	1 lab	4c33719f2c
18:31324350 ASXL3 C>G	18	31324350	31324350	C	G	ASXL3	c.4538C>G	NM_030632.3	NP_085135.1:p.(Pro1513Arg)	NC_000018.9:g.31324350C>G	(Likely) benign	1 lab	4c33d00a78
19:1460795 APC2 G>A	19	1460795	1460795	G	A	APC2	c.1460G>A	NM_005883.3	NP_005874.1:p.(Arg487His)	NC_000019.9:g.1460795G>A	VUS	1 lab	4c341e108e
19:31769351 TSHZ3 T>C	19	31769351	31769351	T	C	TSHZ3	c.1348A>G	NM_020856.4	NP_065907.2:p.(Thr450Ala)	NC_000019.9:g.31769351T>C	VUS	1 lab	4c346551d6
19:17838151 MAP1S G>A	19	17838151	17838151	G	A	MAP1S	c.1958G>A	NM_018174.6	NP_060644.4:p.(Arg653Gln)	NC_000019.9:g.17838151G>A	VUS	1 lab	4c3559fcbb
X:77912582 RTL3 G>C	X	77912582	77912582	G	C	RTL3	c.1336C>G	NM_152694.3	NP_689907.1:p.(Leu446Val)	NC_000023.10:g.77912582G>C	(Likely) benign	1 lab	4c35d034ee
12:21620547 PYROXD1 TA>T	12	21620547	21620548	TA	T	PYROXD1	c.1250del	NM_024854.5	NP_079130.2:p.(Tyr417LeufsTer14)	NC_000012.11:g.21620548del	VUS	1 lab	4c364f5483
5:139493919 PURA AG>A	5	139493919	139493925	AG	A	PURA	c.159del	NM_005859.5	NP_005850.1:p.(Leu54CysfsTer24)	NC_000005.9:g.139493925del	(Likely) pathogenic	1 lab	4c37ba9292
1:27101387 ARID1A C>A	1	27101387	27101387	C	A	ARID1A	c.4669C>A	NM_006015.6	NP_006006.3:p.(Pro1557Thr)	NC_000001.10:g.27101387C>A	(Likely) benign	1 lab	4c380bc97e
1:152277923 FLG C>T	1	152277923	152277923	C	T	FLG	c.9439G>A	NM_002016.2	NP_002007.1:p.(Gly3147Arg)	NC_000001.10:g.152277923C>T	(Likely) benign	1 lab	4c3a5f951d
19:15294708 NOTCH3 A>AC	19	15294708	15294709	A	AC	NOTCH3	c.2566+397_2566+398insG	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15294708_15294709insC	(Likely) benign	1 lab	4c3b522c4d
19:4512740 PLIN4 G>A	19	4512740	4512740	G	A	PLIN4	c.1232C>T	NM_001367868.2	NP_001354797.1:p.(Ala411Val)	NC_000019.9:g.4512740G>A	(Likely) benign	1 lab	4c3b80bdd4
2:61575149 USP34 A>G	2	61575149	61575149	A	G	USP34	c.2141T>C	NM_014709.4	NP_055524.3:p.(Ile714Thr)	NC_000002.11:g.61575149A>G	(Likely) benign	1 lab	4c3e2148f8
X:135333478 MAP7D3 G>A	X	135333478	135333478	G	A	MAP7D3	c.40C>T	NM_024597.4	NP_078873.2:p.(Pro14Ser)	NC_000023.10:g.135333478G>A	VUS	1 lab	4c4043a65e
7:103281044 RELN G>A	7	103281044	103281044	G	A	RELN	c.2015C>T	NM_005045.4	NP_005036.2:p.(Pro672Leu)	NC_000007.13:g.103281044G>A	VUS	1 lab	4c40ef762d
8:77617545 ZFHX4 CT>C	8	77617545	77617546	CT	C	ZFHX4	c.1223del	NM_024721.5	NP_078997.4:p.(Leu408ArgfsTer7)	NC_000008.10:g.77617546del	VUS	1 lab	4c424cb638
14:77493412 IRF2BPL G>A	14	77493412	77493412	G	A	IRF2BPL	c.724C>T	NM_024496.4	NP_078772.1:p.(Pro242Ser)	NC_000014.8:g.77493412G>A	(Likely) benign	1 lab	1ffa84996e
10:69961654 MYPN C>G	10	69961654	69961654	C	G	MYPN	c.3562C>G	NM_032578.4	NP_115967.2:p.(Pro1188Ala)	NC_000010.10:g.69961654C>G	(Likely) benign	1 lab	4c42fc8647
X:103031779 PLP1 A>G	X	103031779	103031779	A	G	PLP1	c.-145A>G	NM_000533.5	NP_000524.3:p.?	NC_000023.10:g.103031779A>G	VUS	1 lab	4ccdb5f409
2:166756294 TTC21B C>T	2	166756294	166756294	C	T	TTC21B	c.2854G>A	NM_024753.5	NP_079029.3:p.(Glu952Lys)	NC_000002.11:g.166756294C>T	VUS	1 lab	4c4552fefd
5:59189027 PDE4D C>T	5	59189027	59189027	C	T	PDE4D	c.423G>A	NM_001104631.2	NP_001098101.1:p.(Met141Ile)	NC_000005.9:g.59189027C>T	(Likely) benign	1 lab	4c4989e2d5
2:202508123 TMEM237 T>C	2	202508123	202508123	T	C	TMEM237	c.1A>G	NM_001044385.3	NP_001037850.1:p.(Met1?)	NC_000002.11:g.202508123T>C	VUS	1 lab	4c4a3b9406
9:5770093 RIC1 A>G	9	5770093	5770093	A	G	RIC1	c.3431A>G	NM_020829.4	NP_065880.2:p.(Glu1144Gly)	NC_000009.11:g.5770093A>G	VUS	1 lab	4c4b345139
2:86389114 IMMT G>A	2	86389114	86389114	G	A	IMMT	c.881C>T	NM_006839.3	NP_006830.2:p.(Ala294Val)	NC_000002.11:g.86389114G>A	(Likely) benign	1 lab	4c4c08108b
1:21887244 ALPL G>A	1	21887244	21887244	G	A	ALPL	c.181+6G>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21887244G>A	(Likely) benign	1 lab	4c4c09a067
10:72195326 NODAL C>T	10	72195326	72195326	C	T	NODAL	c.607G>A	NM_018055.5	NP_060525.3:p.(Glu203Lys)	NC_000010.10:g.72195326C>T	(Likely) benign	1 lab	4c4d0c94db
11:124739343 ROBO3 CAGT>C	11	124739343	124739346	CAGT	C	ROBO3	c.488-2_488del	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124739344_124739346del	(Likely) benign	1 lab	4c4d6d0e80
6:35423588 FANCE G>A	6	35423588	35423588	G	A	FANCE	c.313G>A	NM_021922.3	NP_068741.1:p.(Val105Ile)	NC_000006.11:g.35423588G>A	(Likely) benign	1 lab	4c4f7ef5d7
3:99514562 COL8A1 G>A	3	99514562	99514562	G	A	COL8A1	c.1817G>A	NM_020351.4	NP_065084.2:p.(Gly606Asp)	NC_000003.11:g.99514562G>A	VUS	1 lab	4c4fb63c1c
14:67576899 GPHN A>G	14	67576899	67576899	A	G	GPHN	c.1336A>G	NM_020806.5	NP_065857.1:p.(Thr446Ala)	NC_000014.8:g.67576899A>G	VUS	1 lab	4c50121008
19:10812375 QTRT1 G>A	19	10812375	10812375	G	A	QTRT1	c.239G>A	NM_031209.3	NP_112486.1:p.(Arg80Lys)	NC_000019.9:g.10812375G>A	VUS	1 lab	4c506c7b09
2:236839401 AGAP1 A>G	2	236839401	236839401	A	G	AGAP1	c.1325-8A>G	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236839401A>G	(Likely) benign	1 lab	4c65497599
10:70176543 DNA2 G>A	10	70176543	70176543	G	A	DNA2	c.3037C>T	NM_001080449.3	NP_001073918.2:p.(Leu1013Phe)	NC_000010.10:g.70176543G>A	VUS	1 lab	4c69504862
10:89473069 PAPSS2 T>TAAAAAAAAAAAAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	c.381+3_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473070_89473091dup	(Likely) benign	1 lab	4c539ae023
19:44352009 ZNF283 T>C	19	44352009	44352009	T	C	ZNF283	c.1256T>C	NM_181845.2	NP_862828.1:p.(Ile419Thr)	NC_000019.9:g.44352009T>C	VUS	1 lab	4c53d4a22f
3:18393575 SATB1 C>T	3	18393575	18393575	C	T	SATB1	c.1688G>A	NM_002971.6	NP_002962.1:p.(Arg563His)	NC_000003.11:g.18393575C>T	VUS	1 lab	4c56a0da68
8:61764728 CHD7 G>A	8	61764728	61764728	G	A	CHD7	c.5816G>A	NM_017780.4	NP_060250.2:p.(Arg1939Gln)	NC_000008.10:g.61764728G>A	VUS	1 lab	4c58c1dd0a
19:10893768 DNM2 C>T	19	10893768	10893768	C	T	DNM2	c.821C>T	NM_001005361.3	NP_001005361.1:p.(Thr274Met)	NC_000019.9:g.10893768C>T	VUS	1 lab	4c5ab075cd
4:52890133 SGCB T>C	4	52890133	52890133	T	C	SGCB	c.947A>G	NM_000232.5	NP_000223.1:p.(Asn316Ser)	NC_000004.11:g.52890133T>C	(Likely) benign	1 lab	4c5be92362
9:80040495 GNA14 T>C	9	80040495	80040495	T	C	GNA14	c.860A>G	NM_004297.4	NP_004288.1:p.(Tyr287Cys)	NC_000009.11:g.80040495T>C	(Likely) benign	1 lab	4c5cb0a1a1
17:3552188 CTNS G>A	17	3552188	3552188	G	A	CTNS	c.188G>A	NM_004937.3	NP_004928.2:p.(Arg63His)	NC_000017.10:g.3552188G>A	VUS	1 lab	4c5d8f06e1
9:139324859 INPP5E C>A	9	139324859	139324859	C	A	INPP5E	c.1672G>T	NM_019892.6	NP_063945.2:p.(Val558Phe)	NC_000009.11:g.139324859C>A	VUS	1 lab	4c5dbfd05f
X:153363067 MECP2 T>A	X	153363067	153363067	T	A	MECP2	c.56A>T	NM_001110792.2	NP_001104262.1:p.(Glu19Val)	NC_000023.10:g.153363067T>A	(Likely) benign	1 lab	4c5e296f2f
X:57620444 ZXDB T>A	X	57620444	57620444	T	A	ZXDB	c.1963T>A	NM_007157.4	NP_009088.1:p.(Ser655Thr)	NC_000023.10:g.57620444T>A	VUS	1 lab	4c5f31b0b4
2:175622337 CHRNA1 G>A	2	175622337	175622337	G	A	CHRNA1	c.301C>T	NM_000079.4	NP_000070.1:p.(Pro101Ser)	NC_000002.11:g.175622337G>A	VUS	1 lab	4c5f8506d7
6:112522857 LAMA4 G>A	6	112522857	112522857	G	A	LAMA4	c.455C>T	NM_001105206.3	NP_001098676.2:p.(Ala152Val)	NC_000006.11:g.112522857G>A	(Likely) benign	1 lab	1ffa928878
2:179430323 TTN C>T	2	179430323	179430323	C	T	TTN	c.80536G>A	NM_001267550.2	NP_001254479.2:p.(Gly26846Arg)	NC_000002.11:g.179430323C>T	VUS	1 lab	4c66551b0f
6:30621036 DHX16 G>A	6	30621036	30621036	G	A	DHX16	c.3109C>T	NM_003587.5	NP_003578.2:p.(Arg1037Ter)	NC_000006.11:g.30621036G>A	VUS	1 lab	4c667bc4c8
22:41574684 EP300 C>G	22	41574684	41574684	C	G	EP300	c.6969C>G	NM_001429.4	NP_001420.2:p.(Pro2323=)	NC_000022.10:g.41574684C>G	(Likely) benign	1 lab	4c6888f71d
2:228883976 SPHKAP T>C	2	228883976	228883976	T	C	SPHKAP	c.1594A>G	NM_001142644.2	NP_001136116.1:p.(Ser532Gly)	NC_000002.11:g.228883976T>C	VUS	1 lab	4c6a220ea2
20:62038422 KCNQ2 G>A	20	62038422	62038422	G	A	KCNQ2	c.2194C>T	NM_172107.4	NP_742105.1:p.(Pro732Ser)	NC_000020.10:g.62038422G>A	VUS	1 lab	4c6b27939d
X:114425967 RBMXL3 G>A	X	114425967	114425967	G	A	RBMXL3	c.1963G>A	NM_001145346.2	NP_001138818.1:p.(Asp655Asn)	NC_000023.10:g.114425967G>A	(Likely) benign	1 lab	4c6b2ba33e
19:49661155 TRPM4 C>A	19	49661155	49661155	C	A	TRPM4	c.24+8C>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49661155C>A	(Likely) benign	1 lab	4c6bb13efc
19:38996495 RYR1 T>C	19	38996495	38996495	T	C	RYR1	c.8450T>C	NM_000540.3	NP_000531.2:p.(Ile2817Thr)	NC_000019.9:g.38996495T>C	VUS	1 lab	4c6f582c20
9:139259586 CARD9 G>T	9	139259586	139259586	G	T	CARD9	c.1434+7C>A	NM_052813.5	NP_434700.2:p.?	NC_000009.11:g.139259586G>T	(Likely) benign	1 lab	4c6fed0176
9:43625509 SPATA31A6 C>T	9	43625509	43625509	C	T	SPATA31A6	c.3178G>A	NM_001145196.1	NP_001138668.1:p.(Gly1060Arg)	NC_000009.11:g.43625509C>T	VUS	1 lab	4c710cfcc9
9:139351970 SEC16A A>G	9	139351970	139351970	A	G	SEC16A	c.5476T>C	NM_014866.2	NP_055681.1:p.(Cys1826Arg)	NC_000009.11:g.139351970A>G	VUS	1 lab	4c722bb5d2
X:152158992 PNMA5 C>T	X	152158992	152158992	C	T	PNMA5	c.1151G>A	NM_001184924.2	NP_001171853.1:p.(Gly384Glu)	NC_000023.10:g.152158992C>T	VUS	1 lab	4c72357ee5
10:28149609 ODAD2 T>A	10	28149609	28149609	T	A	ODAD2	c.2966A>T	NM_018076.5	NP_060546.2:p.(Gln989Leu)	NC_000010.10:g.28149609T>A	VUS	1 lab	4c735b3118
11:55579306 OR5L1 C>T	11	55579306	55579306	C	T	OR5L1	c.364C>T	NM_001004738.2	NP_001004738.1:p.(Arg122Cys)	NC_000011.9:g.55579306C>T	VUS	1 lab	4c73d0964a
17:62022974 SCN4A C>T	17	62022974	62022974	C	T	SCN4A	c.3466G>A	NM_000334.4	NP_000325.4:p.(Ala1156Thr)	NC_000017.10:g.62022974C>T	(Likely) pathogenic	1 lab	4c74e6cd36
5:56111747 MAP3K1 C>G	5	56111747	56111747	C	G	MAP3K1	c.347C>G	NM_005921.2	NP_005912.1:p.(Ala116Gly)	NC_000005.9:g.56111747C>G	(Likely) benign	1 lab	4c7685f517
11:22646941 FANCF C>G	11	22646941	22646941	C	G	FANCF	c.416G>C	NM_022725.4	NP_073562.1:p.(Arg139Pro)	NC_000011.9:g.22646941C>G	(Likely) benign	1 lab	4c769a60e8
17:7530706 SAT2 CGA>C	17	7530706	7530711	CGA	C	SAT2	c.91_92del	NM_133491.5	NP_597998.1:p.(Ser31GlyfsTer7)	NC_000017.10:g.7530710_7530711del	VUS	1 lab	4c77f3464b
11:125488261 STT3A C>T	11	125488261	125488261	C	T	STT3A	c.1775-7C>T	NM_152713.5	NP_689926.1:p.?	NC_000011.9:g.125488261C>T	(Likely) benign	1 lab	4c7846658f
14:21863266 CHD8 T>C	14	21863266	21863266	T	C	CHD8	c.5195A>G	NM_001170629.2	NP_001164100.1:p.(Gln1732Arg)	NC_000014.8:g.21863266T>C	(Likely) benign	1 lab	4c787f42df
5:149751800 TCOF1 G>A	5	149751800	149751800	G	A	TCOF1	c.870+1G>A	NM_001371623.1	NP_001358552.1:p.?	NC_000005.9:g.149751800G>A	(Likely) benign	1 lab	4c79865d7e
8:21978234 HR C>T	8	21978234	21978234	C	T	HR	c.2605G>A	NM_005144.5	NP_005135.2:p.(Gly869Ser)	NC_000008.10:g.21978234C>T	VUS	1 lab	4c7aed70b0
9:98270545 PTCH1 G>GCGCCTCC	9	98270545	98270559	G	GCGCCTCC	PTCH1	c.92_98dup	NM_000264.5	NP_000255.2:p.(Arg34GlufsTer58)	NC_000009.11:g.98270553_98270559dup	VUS	1 lab	4c7b0ac23d
4:69533891 UGT2B15 A>G	4	69533891	69533891	A	G	UGT2B15	c.740T>C	NM_001076.4	NP_001067.2:p.(Leu247Ser)	NC_000004.11:g.69533891A>G	VUS	1 lab	4c7b2d5538
2:207009659 NDUFS1 T>A	2	207009659	207009659	T	A	NDUFS1	c.829A>T	NM_005006.7	NP_004997.4:p.(Met277Leu)	NC_000002.11:g.207009659T>A	VUS	1 lab	4c7b4edce1
18:32398247 DTNA G>A	18	32398247	32398247	G	A	DTNA	c.829G>A	NM_032975.3	NP_116757.2:p.(Gly277Ser)	NC_000018.9:g.32398247G>A	(Likely) benign	1 lab	32d5b9b679
2:232889019 DIS3L2 T>G	2	232889019	232889019	T	G	DIS3L2	c.243T>G	NM_152383.5	NP_689596.4:p.(His81Gln)	NC_000002.11:g.232889019T>G	VUS	1 lab	4c7be51f76
17:61345214 TANC2 G>T	17	61345214	61345214	G	T	TANC2	c.1139G>T	NM_001394998.1	NP_001381927.1:p.(Arg380Leu)	NC_000017.10:g.61345214G>T	VUS	1 lab	4c7c26075b
16:58616788 CNOT1 C>A	16	58616788	58616788	C	A	CNOT1	c.953G>T	NM_016284.5	NP_057368.3:p.(Ser318Ile)	NC_000016.9:g.58616788C>A	(Likely) benign	1 lab	4c7e5d73be
18:43459134 EPG5 G>A	18	43459134	43459134	G	A	EPG5	c.5713C>T	NM_020964.3	NP_066015.2:p.(Arg1905Trp)	NC_000018.9:g.43459134G>A	VUS	1 lab	4c7eb173d7
3:124829109 SLC12A8 A>G	3	124829109	124829109	A	G	SLC12A8	c.983T>C	NM_024628.6	NP_078904.4:p.(Leu328Pro)	NC_000003.11:g.124829109A>G	VUS	1 lab	4c7f51379c
7:94041921 COL1A2 C>T	7	94041921	94041921	C	T	COL1A2	c.1430C>T	NM_000089.4	NP_000080.2:p.(Pro477Leu)	NC_000007.13:g.94041921C>T	(Likely) benign	1 lab	4c82110f55
9:79321940 PRUNE2 C>T	9	79321940	79321940	C	T	PRUNE2	c.5250G>A	NM_015225.3	NP_056040.2:p.(Glu1750=)	NC_000009.11:g.79321940C>T	(Likely) benign	1 lab	4c82bc77b8
9:73151450 TRPM3 CCT>C	9	73151450	73151454	CCT	C	TRPM3	c.4577_4578del	NM_001366145.2	NP_001353074.1:p.(Glu1526GlyfsTer8)	NC_000009.11:g.73151453_73151454del	VUS	1 lab	4c83f3d429
10:93076 TUBB8 A>T	10	93076	93076	A	T	TUBB8	c.1256T>A	NM_177987.3	NP_817124.1:p.(Val419Glu)	NC_000010.10:g.93076A>T	VUS	1 lab	4c852cd4f2
9:139281967 SNAPC4 G>A	9	139281967	139281967	G	A	SNAPC4	c.1295C>T	NM_003086.4	NP_003077.2:p.(Pro432Leu)	NC_000009.11:g.139281967G>A	VUS	1 lab	4c870b6fc0
19:52031044 SIGLEC6 T>A	19	52031044	52031044	T	A	SIGLEC6	c.1145A>T	NM_001245.7	NP_001236.4:p.(Gln382Leu)	NC_000019.9:g.52031044T>A	VUS	1 lab	4c8713fef4
11:22297618 ANO5 TGCA>T	11	22297618	22297621	TGCA	T	ANO5	c.2415-21_2415-19del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22297619_22297621del	(Likely) benign	1 lab	4c88845442
11:64444509 NRXN2 G>C	11	64444509	64444509	G	C	NRXN2	c.1153C>G	NM_015080.4	NP_055895.1:p.(His385Asp)	NC_000011.9:g.64444509G>C	VUS	1 lab	4c88b6713a
1:197102630 ASPM T>C	1	197102630	197102630	T	C	ASPM	c.2269A>G	NM_018136.5	NP_060606.3:p.(Thr757Ala)	NC_000001.10:g.197102630T>C	VUS	1 lab	4c88b9fd49
16:30736123 SRCAP C>T	16	30736123	30736123	C	T	SRCAP	c.5378C>T	NM_006662.3	NP_006653.2:p.(Ala1793Val)	NC_000016.9:g.30736123C>T	(Likely) benign	1 lab	4c896e4c00
17:74570459 ST6GALNAC2 GC>G	17	74570459	74570464	GC	G	ST6GALNAC2	c.348del	NM_006456.3	NP_006447.2:p.(Leu117SerfsTer10)	NC_000017.10:g.74570464del	VUS	1 lab	4c8ba93bb5
21:45713741 AIRE G>A	21	45713741	45713741	G	A	AIRE	c.1348G>A	NM_000383.4	NP_000374.1:p.(Ala450Thr)	NC_000021.8:g.45713741G>A	VUS	1 lab	4c8bf2decf
20:18523018 SEC23B C>T	20	18523018	18523018	C	T	SEC23B	c.1483C>T	NM_006363.6	NP_006354.2:p.(Arg495Cys)	NC_000020.10:g.18523018C>T	VUS	1 lab	4c8d3cab4c
21:34948838 SON C>T	21	34948838	34948838	C	T	SON	c.*108C>T	NM_138927.4	NP_620305.3:p.?	NC_000021.8:g.34948838C>T	VUS	1 lab	4c8f751d57
21:43176924 RIPK4 G>A	21	43176924	43176924	G	A	RIPK4	c.235C>T	NM_020639.3	NP_065690.2:p.(Arg79Cys)	NC_000021.8:g.43176924G>A	VUS	1 lab	4c90262ab8
X:77258614 ATP7A G>A	X	77258614	77258614	G	A	ATP7A	c.1588G>A	NM_000052.7	NP_000043.4:p.(Val530Ile)	NC_000023.10:g.77258614G>A	VUS	1 lab	4c922b0946
7:64388552 ZNF273 A>C	7	64388552	64388552	A	C	ZNF273	c.846A>C	NM_021148.3	NP_066971.2:p.(Lys282Asn)	NC_000007.13:g.64388552A>C	(Likely) benign	1 lab	4c92dce90d
11:70331959 SHANK2 G>T	11	70331959	70331959	G	T	SHANK2	c.4439C>A	NM_012309.5	NP_036441.2:p.(Pro1480His)	NC_000011.9:g.70331959G>T	VUS	1 lab	4c92fda2ae
11:101454035 TRPC6 C>G	11	101454035	101454035	C	G	TRPC6	c.170+30G>C	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101454035C>G	(Likely) benign	1 lab	1ffbd11802
1:179528880 NPHS2 CA>C	1	179528880	179528888	CA	C	NPHS2	c.467del	NM_014625.4	NP_055440.1:p.(Leu156CysfsTer25)	NC_000001.10:g.179528888del	(Likely) pathogenic	1 lab	20015db37c
20:60889378 LAMA5 G>A	20	60889378	60889378	G	A	LAMA5	c.8486C>T	NM_005560.6	NP_005551.3:p.(Ala2829Val)	NC_000020.10:g.60889378G>A	VUS	1 lab	4c95c101df
16:83933172 MLYCD C>G	16	83933172	83933172	C	G	MLYCD	c.423C>G	NM_012213.3	NP_036345.2:p.(Phe141Leu)	NC_000016.9:g.83933172C>G	VUS	1 lab	4c97f4999f
5:39341369 C9 A>C	5	39341369	39341369	A	C	C9	c.355T>G	NM_001737.5	NP_001728.1:p.(Cys119Gly)	NC_000005.9:g.39341369A>C	VUS	1 lab	1f782543e4
7:44189626 GCK G>A	7	44189626	44189626	G	A	GCK	c.521C>T	NM_000162.5	NP_000153.1:p.(Ser174Leu)	NC_000007.13:g.44189626G>A	(Likely) pathogenic	1 lab	4c988e298e
X:53115159 TSPYL2 G>A	X	53115159	53115159	G	A	TSPYL2	c.1585G>A	NM_022117.4	NP_071400.1:p.(Glu529Lys)	NC_000023.10:g.53115159G>A	VUS	1 lab	4c98c9cf2b
2:152473981 NEB C>A	2	152473981	152473981	C	A	NEB	c.11078G>T	NM_001164508.2	NP_001157980.2:p.(Arg3693Leu)	NC_000002.11:g.152473981C>A	(Likely) benign	1 lab	4c9b64b776
5:38523602 LIFR CCT>C	5	38523602	38523604	CCT	C	LIFR	c.478_479del	NM_001127671.2	NP_001121143.1:p.(Arg160GlyfsTer15)	NC_000005.9:g.38523603_38523604del	(Likely) pathogenic	1 lab	4c9c54b3cb
15:74468355 ISLR G>A	15	74468355	74468355	G	A	ISLR	c.1156G>A	NM_005545.4	NP_005536.1:p.(Val386Ile)	NC_000015.9:g.74468355G>A	(Likely) benign	1 lab	4c9d4ce593
9:98209298 PTCH1 C>T	9	98209298	98209298	C	T	PTCH1	c.4240G>A	NM_000264.5	NP_000255.2:p.(Val1414Met)	NC_000009.11:g.98209298C>T	VUS	1 lab	4c9da152b9
17:8138546 CTC1 C>T	17	8138546	8138546	C	T	CTC1	c.1264G>A	NM_025099.6	NP_079375.3:p.(Ala422Thr)	NC_000017.10:g.8138546C>T	VUS	1 lab	4c9e0bf266
2:239234543 TRAF3IP1 G>A	2	239234543	239234543	G	A	TRAF3IP1	c.286G>A	NM_015650.4	NP_056465.2:p.(Val96Met)	NC_000002.11:g.239234543G>A	VUS	1 lab	4c9efd004c
9:135946014 CEL A>G	9	135946014	135946014	A	G	CEL	c.1453A>G	NM_001807.6	NP_001798.3:p.(Ile485Val)	NC_000009.11:g.135946014A>G	VUS	1 lab	4c9f6c030b
5:154308097 GEMIN5 T>C	5	154308097	154308097	T	C	GEMIN5	c.904A>G	NM_015465.5	NP_056280.2:p.(Ser302Gly)	NC_000005.9:g.154308097T>C	VUS	1 lab	4ca00c7785
19:33600922 GPATCH1 G>T	19	33600922	33600922	G	T	GPATCH1	c.1585G>T	NM_018025.3	NP_060495.2:p.(Asp529Tyr)	NC_000019.9:g.33600922G>T	VUS	1 lab	4ca028ffeb
15:33954904 RYR3 G>A	15	33954904	33954904	G	A	RYR3	c.5173G>A	NM_001036.6	NP_001027.3:p.(Val1725Met)	NC_000015.9:g.33954904G>A	VUS	1 lab	4ca1b6726b
11:6592531 DNHD1 C>A	11	6592531	6592531	C	A	DNHD1	c.13789C>A	NM_144666.3	NP_653267.2:p.(Arg4597Ser)	NC_000011.9:g.6592531C>A	(Likely) benign	1 lab	4ca1df4d67
13:32929102 BRCA2 C>A	13	32929102	32929102	C	A	BRCA2	c.7112C>A	NM_000059.4	NP_000050.3:p.(Ser2371Tyr)	NC_000013.10:g.32929102C>A	VUS	1 lab	1f78cc6cf6
3:33155657 CRTAP C>A	3	33155657	33155657	C	A	CRTAP	c.88C>A	NM_006371.5	NP_006362.1:p.(Arg30Ser)	NC_000003.11:g.33155657C>A	VUS	1 lab	4ca2859628
20:44525621 CTSA A>C	20	44525621	44525621	A	C	CTSA	c.1106A>C	NM_000308.4	NP_000299.3:p.(Gln369Pro)	NC_000020.10:g.44525621A>C	VUS	1 lab	4ca2b39482
5:126791256 MEGF10 G>A	5	126791256	126791256	G	A	MEGF10	c.3189G>A	NM_001256545.2	NP_001243474.1:p.(Glu1063=)	NC_000005.9:g.126791256G>A	(Likely) benign	1 lab	4ca3612572
20:31017719 ASXL1 A>G	20	31017719	31017719	A	G	ASXL1	c.581A>G	NM_015338.6	NP_056153.2:p.(His194Arg)	NC_000020.10:g.31017719A>G	(Likely) benign	1 lab	4ca3d55704
2:169830328 ABCB11 A>G	2	169830328	169830328	A	G	ABCB11	c.1331T>C	NM_003742.4	NP_003733.2:p.(Val444Ala)	NC_000002.11:g.169830328A>G	(Likely) benign	1 lab	1f7932cde6
4:5754583 EVC G>A	4	5754583	5754583	G	A	EVC	c.1119G>A	NM_153717.3	NP_714928.1:p.(Met373Ile)	NC_000004.11:g.5754583G>A	(Likely) benign	1 lab	4ca5879eec
9:93626912 SYK A>G	9	93626912	93626912	A	G	SYK	c.759A>G	NM_003177.7	NP_003168.2:p.(Arg253=)	NC_000009.11:g.93626912A>G	(Likely) benign	1 lab	4ca5ab1bad
9:135864506 GFI1B G>A	9	135864506	135864506	G	A	GFI1B	c.569G>A	NM_001377304.1	NP_001364233.1:p.(Arg190Gln)	NC_000009.11:g.135864506G>A	VUS	1 lab	4ca6035ad0
9:14776044 FREM1 C>A	9	14776044	14776044	C	A	FREM1	c.4600G>T	NM_001379081.2	NP_001366010.1:p.(Asp1534Tyr)	NC_000009.11:g.14776044C>A	VUS	1 lab	4ca618245b
17:73750721 ITGB4 G>A	17	73750721	73750721	G	A	ITGB4	c.4383G>A	NM_000213.5	NP_000204.3:p.(Met1461Ile)	NC_000017.10:g.73750721G>A	(Likely) benign	1 lab	20037b37c8
16:11594679 MISSING G>A	16	11594679	11594679	G	A	MISSING				NC_000016.9:g.11594679G>A	VUS	1 lab	4ca750b56e
7:107569510 LAMB1 G>A	7	107569510	107569510	G	A	LAMB1	c.4886C>T	NM_002291.3	NP_002282.2:p.(Ser1629Leu)	NC_000007.13:g.107569510G>A	VUS	1 lab	4ca943b78f
X:23740077 ACOT9 G>C	X	23740077	23740077	G	C	ACOT9	c.509C>G	NM_001037171.2	NP_001032248.1:p.(Pro170Arg)	NC_000023.10:g.23740077G>C	VUS	1 lab	4ca98c9744
11:16208472 SOX6 G>A	11	16208472	16208472	G	A	SOX6	c.565C>T	NM_001367873.1	NP_001354802.1:p.(Arg189Trp)	NC_000011.9:g.16208472G>A	(Likely) benign	1 lab	4cab3939aa
11:17170256 PIK3C2A C>T	11	17170256	17170256	C	T	PIK3C2A	c.1406G>A	NM_002645.4	NP_002636.2:p.(Ser469Asn)	NC_000011.9:g.17170256C>T	VUS	1 lab	4cab541a4a
7:92138636 PEX1 T>G	7	92138636	92138636	T	G	PEX1	c.1670+7A>C	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92138636T>G	(Likely) benign	1 lab	4cabd01512
12:7045262 ATN1 A>G	12	7045262	7045262	A	G	ATN1	c.832A>G	NM_001940.4	NP_001931.2:p.(Thr278Ala)	NC_000012.11:g.7045262A>G	VUS	1 lab	4cabdf83d9
8:42231799 DKK4 A>G	8	42231799	42231799	A	G	DKK4	c.494T>C	NM_014420.3	NP_055235.1:p.(Ile165Thr)	NC_000008.10:g.42231799A>G	VUS	1 lab	4cac056748
10:71637822 COL13A1 G>T	10	71637822	71637822	G	T	COL13A1	c.462+1G>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71637822G>T	VUS	1 lab	4cac5c5525
7:27239422 HOXA13 G>C	7	27239422	27239422	G	C	HOXA13	c.275C>G	NM_000522.5	NP_000513.2:p.(Ala92Gly)	NC_000007.13:g.27239422G>C	VUS	1 lab	4cad03581c
9:138395639 MRPS2 G>A	9	138395639	138395639	G	A	MRPS2	c.551G>A	NM_016034.5	NP_057118.1:p.(Gly184Asp)	NC_000009.11:g.138395639G>A	VUS	1 lab	4cafb710a0
3:53276185 TKT G>A	3	53276185	53276185	G	A	TKT	c.181C>T	NM_001064.4	NP_001055.1:p.(Gln61Ter)	NC_000003.11:g.53276185G>A	VUS	1 lab	4cb0292516
10:88935655 SHLD2 G>C	10	88935655	88935655	G	C	SHLD2	c.1973G>C	NM_001330112.2	NP_001317041.1:p.(Trp658Ser)	NC_000010.10:g.88935655G>C	VUS	1 lab	4cb0da0c23
17:43531555 PLEKHM1 A>C	17	43531555	43531555	A	C	PLEKHM1	c.1663T>G	NM_014798.3	NP_055613.1:p.(Cys555Gly)	NC_000017.10:g.43531555A>C	VUS	1 lab	4cb51689fc
9:138393686 MRPS2 G>A	9	138393686	138393686	G	A	MRPS2	c.170-4G>A	NM_016034.5	NP_057118.1:p.?	NC_000009.11:g.138393686G>A	(Likely) benign	1 lab	4cb5d5e40f
17:73049138 KCTD2 A>G	17	73049138	73049138	A	G	KCTD2	c.478A>G	NM_015353.3	NP_056168.1:p.(Ile160Val)	NC_000017.10:g.73049138A>G	(Likely) benign	1 lab	4cb647c223
11:6653888 DCHS1 A>T	11	6653888	6653888	A	T	DCHS1	c.2855T>A	NM_003737.4	NP_003728.1:p.(Leu952His)	NC_000011.9:g.6653888A>T	VUS	1 lab	4cb7d5f214
X:70469502 ZMYM3 C>T	X	70469502	70469502	C	T	ZMYM3	c.1279G>A	NM_201599.3	NP_963893.1:p.(Val427Met)	NC_000023.10:g.70469502C>T	VUS	1 lab	4cb86b32d5
11:108114676 ATM TAAGAA>T	11	108114676	108114681	TAAGAA	T	ATM	c.497-3_498del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114677_108114681del	(Likely) pathogenic	1 lab	4cb8e19c30
4:178257267 NEIL3 C>A	4	178257267	178257267	C	A	NEIL3	c.419C>A	NM_018248.3	NP_060718.3:p.(Ser140Ter)	NC_000004.11:g.178257267C>A	VUS	1 lab	4cbd9309a3
19:15288570 NOTCH3 GC>AA	19	15288570	15288571	GC	AA	NOTCH3	c.4168_4169delinsTT	NM_000435.3	NP_000426.2:p.(Ala1390Phe)	NC_000019.9:g.15288570_15288571delinsAA	VUS	1 lab	4cbda07435
19:16965056 SIN3B G>A	19	16965056	16965056	G	A	SIN3B	c.1042G>A	NM_001297595.2	NP_001284524.1:p.(Val348Ile)	NC_000019.9:g.16965056G>A	(Likely) benign	1 lab	4cbdb8205d
20:44050068 PIGT G>T	20	44050068	44050068	G	T	PIGT	c.1079G>T	NM_015937.6	NP_057021.2:p.(Gly360Val)	NC_000020.10:g.44050068G>T	(Likely) pathogenic	1 lab	4cbf89e4c1
12:56396320 SUOX C>T	12	56396320	56396320	C	T	SUOX	c.51-7C>T	NM_001032386.2	NP_001027558.1:p.?	NC_000012.11:g.56396320C>T	(Likely) benign	1 lab	4cbf9fae69
16:30733438 SRCAP T>G	16	30733438	30733438	T	G	SRCAP	c.3542-5T>G	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30733438T>G	VUS	1 lab	4cbfaafd0e
2:10132274 GRHL1 T>C	2	10132274	10132274	T	C	GRHL1	c.1461T>C	NM_198182.3	NP_937825.2:p.(His487=)	NC_000002.11:g.10132274T>C	VUS	1 lab	4cc05f6b1e
16:89349837 ANKRD11 C>T	16	89349837	89349837	C	T	ANKRD11	c.3113G>A	NM_013275.6	NP_037407.4:p.(Ser1038Asn)	NC_000016.9:g.89349837C>T	VUS	1 lab	4cc28051bd
5:176638327 NSD1 C>T	5	176638327	176638327	C	T	NSD1	c.2927C>T	NM_022455.5	NP_071900.2:p.(Ala976Val)	NC_000005.9:g.176638327C>T	VUS	1 lab	4cc53c4326
9:738405 KANK1 C>T	9	738405	738405	C	T	KANK1	c.3454C>T	NM_015158.5	NP_055973.2:p.(Arg1152Cys)	NC_000009.11:g.738405C>T	VUS	1 lab	4cc5dd7a6d
19:48640807 LIG1 C>T	19	48640807	48640807	C	T	LIG1	c.1226G>A	NM_000234.3	NP_000225.1:p.(Arg409His)	NC_000019.9:g.48640807C>T	(Likely) benign	1 lab	4cc889e732
7:47945489 PKD1L1 C>T	7	47945489	47945489	C	T	PKD1L1	c.1473G>A	NM_138295.5	NP_612152.1:p.(Val491=)	NC_000007.13:g.47945489C>T	(Likely) benign	1 lab	4cce1a08ec
2:238268789 COL6A3 G>A	2	238268789	238268789	G	A	COL6A3	c.6224C>T	NM_004369.4	NP_004360.2:p.(Pro2075Leu)	NC_000002.11:g.238268789G>A	VUS	1 lab	4ccf0bb045
1:16261677 SPEN C>T	1	16261677	16261677	C	T	SPEN	c.8942C>T	NM_015001.3	NP_055816.2:p.(Thr2981Met)	NC_000001.10:g.16261677C>T	(Likely) benign	1 lab	4ccf536e7d
1:237777937 RYR2 G>A	1	237777937	237777937	G	A	RYR2	c.5509G>A	NM_001035.3	NP_001026.2:p.(Glu1837Lys)	NC_000001.10:g.237777937G>A	VUS	1 lab	200b8996b5
2:48027137 MSH6 C>T	2	48027137	48027137	C	T	MSH6	c.2015C>T	NM_000179.3	NP_000170.1:p.(Thr672Ile)	NC_000002.11:g.48027137C>T	VUS	1 lab	4cd204fb22
X:107225292 TEX13B G>C	X	107225292	107225292	G	C	TEX13B	c.66C>G	NM_031273.2	NP_112563.1:p.(Ile22Met)	NC_000023.10:g.107225292G>C	VUS	1 lab	4cd29ca2f6
2:240195816 HDAC4 C>A	2	240195816	240195816	C	A	HDAC4	c.23-37456G>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240195816C>A	(Likely) benign	1 lab	4cd333d1f7
6:26452024 BTN3A3 G>T	6	26452024	26452024	G	T	BTN3A3	c.1140G>T	NM_006994.5	NP_008925.1:p.(Trp380Cys)	NC_000006.11:g.26452024G>T	(Likely) benign	1 lab	4cd36acc0f
11:34133755 NAT10 C>T	11	34133755	34133755	C	T	NAT10	c.357C>T	NM_024662.3	NP_078938.3:p.(Gly119=)	NC_000011.9:g.34133755C>T	(Likely) benign	1 lab	4cd45a030d
17:74011627 EVPL G>A	17	74011627	74011627	G	A	EVPL	c.1793C>T	NM_001988.4	NP_001979.2:p.(Pro598Leu)	NC_000017.10:g.74011627G>A	VUS	1 lab	4cd4e257a4
14:30068976 PRKD1 C>T	14	30068976	30068976	C	T	PRKD1	c.1953G>A	NM_002742.3	NP_002733.2:p.(Thr651=)	NC_000014.8:g.30068976C>T	(Likely) benign	1 lab	4cd577eafd
9:8486355 PTPRD G>A	9	8486355	8486355	G	A	PTPRD	c.2468-6C>T	NM_002839.4	NP_002830.1:p.?	NC_000009.11:g.8486355G>A	(Likely) benign	1 lab	4cd6036505
7:44228507 GCK C>A	7	44228507	44228507	C	A	GCK	c.45+1G>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44228507C>A	(Likely) pathogenic	1 lab	4cd68084ad
5:52942101 NDUFS4 A>G	5	52942101	52942101	A	G	NDUFS4	c.216A>G	NM_002495.4	NP_002486.1:p.(Ile72Met)	NC_000005.9:g.52942101A>G	VUS	1 lab	4cd6c450ed
1:152282507 FLG A>C	1	152282507	152282507	A	C	FLG	c.4855T>G	NM_002016.2	NP_002007.1:p.(Tyr1619Asp)	NC_000001.10:g.152282507A>C	VUS	1 lab	4cd781e412
18:20572742 RBBP8 CAAG>C	18	20572742	20572750	CAAG	C	RBBP8	c.958_960del	NM_002894.3	NP_002885.1:p.(Glu320del)	NC_000018.9:g.20572748_20572750del	VUS	1 lab	4cd8336764
13:110827619 COL4A1 C>A	13	110827619	110827619	C	A	COL4A1	c.3144G>T	NM_001845.6	NP_001836.3:p.(Glu1048Asp)	NC_000013.10:g.110827619C>A	(Likely) benign	1 lab	4cd89695af
22:50962837 SCO2 G>C	22	50962837	50962837	G	C	SCO2	c.4C>G	NM_005138.3	NP_005129.2:p.(Leu2Val)	NC_000022.10:g.50962837G>C	VUS	1 lab	4cd8b1dc35
11:62383201 B3GAT3 C>T	11	62383201	62383201	C	T	B3GAT3	c.980G>A	NM_012200.4	NP_036332.2:p.(Arg327Gln)	NC_000011.9:g.62383201C>T	VUS	1 lab	4cdbde7f7d
22:19044527 DGCR2 G>A	22	19044527	19044527	G	A	DGCR2	c.774C>T	NM_005137.3	NP_005128.1:p.(Tyr258=)	NC_000022.10:g.19044527G>A	(Likely) benign	1 lab	200cf0739f
7:140476733 BRAF C>T	7	140476733	140476733	C	T	BRAF	c.1673G>A	NM_004333.6	NP_004324.2:p.(Arg558Gln)	NC_000007.13:g.140476733C>T	VUS	1 lab	4ce0b804d7
19:18893856 COMP C>G	19	18893856	18893856	C	G	COMP	c.2227+8G>C	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18893856C>G	(Likely) benign	1 lab	4ce0cab1fe
11:68216299 LRP5 G>A	11	68216299	68216299	G	A	LRP5	c.4609G>A	NM_002335.4	NP_002326.2:p.(Ala1537Thr)	NC_000011.9:g.68216299G>A	VUS	1 lab	4ce0f257a5
2:208994322 CRYGC C>T	2	208994322	208994322	C	T	CRYGC	c.95G>A	NM_020989.4	NP_066269.1:p.(Arg32His)	NC_000002.11:g.208994322C>T	(Likely) benign	1 lab	4ce163656b
X:55170238 VCF2 G>A	X	55170238	55170238	G	A	VCF2	c.*2279C>T	NM_001166701.4	NP_001160173.1:p.?	NC_000023.10:g.55170238G>A	(Likely) benign	1 lab	4ce2402e24
6:107954979 SOBP G>A	6	107954979	107954979	G	A	SOBP	c.931G>A	NM_018013.4	NP_060483.3:p.(Ala311Thr)	NC_000006.11:g.107954979G>A	(Likely) benign	1 lab	4ce261da25
15:89422252 HAPLN3 G>A	15	89422252	89422252	G	A	HAPLN3	c.742C>T	NM_178232.4	NP_839946.1:p.(Arg248Cys)	NC_000015.9:g.89422252G>A	VUS	1 lab	4ce327f80d
15:41062911 C15orf62 G>C	15	41062911	41062911	G	C	C15orf62	c.218G>C	NM_001130448.3	NP_001123920.1:p.(Arg73Pro)	NC_000015.9:g.41062911G>C	(Likely) benign	1 lab	4ce3751351
11:85435650 SYTL2 TG>T	11	85435650	85435654	TG	T	SYTL2	c.4750del	NM_206927.4	NP_996810.2:p.(Gln1584ArgfsTer4)	NC_000011.9:g.85435654del	VUS	1 lab	4ce3b6620c
8:145535871 HSF1 T>TCC	8	145535871	145535874	T	TCC	HSF1	c.1085_1086dup	NM_005526.4	NP_005517.1:p.(Ser363ProfsTer15)	NC_000008.10:g.145535873_145535874dup	(Likely) benign	1 lab	4ce3f4e052
19:41931954 B3GNT8 G>A	19	41931954	41931954	G	A	B3GNT8	c.730C>T	NM_001385648.2	NP_001372577.1:p.(Arg244Ter)	NC_000019.9:g.41931954G>A	VUS	1 lab	4ce7ce3e1a
10:89472879 PAPSS2 T>C	10	89472879	89472879	T	C	PAPSS2	c.193T>C	NM_001015880.2	NP_001015880.1:p.(Tyr65His)	NC_000010.10:g.89472879T>C	VUS	1 lab	4ce7f98a74
3:25542820 RARB T>C	3	25542820	25542820	T	C	RARB	c.448+6T>C	NM_000965.5	NP_000956.2:p.?	NC_000003.11:g.25542820T>C	(Likely) benign	1 lab	4ce8a1a2bc
13:28498656 PDX1 G>A	13	28498656	28498656	G	A	PDX1	c.670G>A	NM_000209.4	NP_000200.1:p.(Glu224Lys)	NC_000013.10:g.28498656G>A	(Likely) benign	1 lab	4ce9eeec83
1:39816482 MACF1 G>A	1	39816482	39816482	G	A	MACF1	c.10991G>A	NM_001394062.1	NP_001380991.1:p.(Arg3664His)	NC_000001.10:g.39816482G>A	(Likely) benign	1 lab	4cea9443aa
17:4802532 CHRNE C>T	17	4802532	4802532	C	T	CHRNE	c.1180G>A	NM_000080.4	NP_000071.1:p.(Val394Met)	NC_000017.10:g.4802532C>T	VUS	1 lab	4cec9a713e
11:108154959 ATM G>T	11	108154959	108154959	G	T	ATM	c.3752G>T	NM_000051.4	NP_000042.3:p.(Cys1251Phe)	NC_000011.9:g.108154959G>T	(Likely) benign	1 lab	4cecd89a20
X:24859771 POLA1 C>T	X	24859771	24859771	C	T	POLA1	c.3739C>T	NM_001330360.2	NP_001317289.1:p.(Leu1247Phe)	NC_000023.10:g.24859771C>T	(Likely) benign	1 lab	4ced079a90
18:7050917 LAMA1 CAT>C	18	7050917	7050921	CAT	C	LAMA1	c.362_363del	NM_005559.4	NP_005550.2:p.(Tyr121CysfsTer4)	NC_000018.9:g.7050920_7050921del	VUS	1 lab	4ced5812a3
4:6279201 WFS1 C>T	4	6279201	6279201	C	T	WFS1	c.19C>T	NM_006005.3	NP_005996.2:p.(Pro7Ser)	NC_000004.11:g.6279201C>T	VUS	1 lab	4cefec03b3
12:6138656 VWF T>C	12	6138656	6138656	T	C	VWF	c.2821-2A>G	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6138656T>C	VUS	1 lab	4cf0c8e3a4
9:140712539 EHMT1 A>G	9	140712539	140712539	A	G	EHMT1	c.3489A>G	NM_024757.5	NP_079033.4:p.(Ser1163=)	NC_000009.11:g.140712539A>G	(Likely) benign	1 lab	20102b5e0a
6:152694308 SYNE1 A>G	6	152694308	152694308	A	G	SYNE1	c.9371T>C	NM_182961.4	NP_892006.3:p.(Met3124Thr)	NC_000006.11:g.152694308A>G	VUS	1 lab	4cf4531f4e
3:69037462 EOGT G>A	3	69037462	69037462	G	A	EOGT	c.1067C>T	NM_001278689.2	NP_001265618.1:p.(Thr356Ile)	NC_000003.11:g.69037462G>A	VUS	1 lab	4cf6d8c59c
9:32487606 RIGI C>T	9	32487606	32487606	C	T	RIGI	c.1238G>A	NM_014314.4	NP_055129.2:p.(Gly413Asp)	NC_000009.11:g.32487606C>T	VUS	1 lab	4cfa936109
13:20763760 GJB2 A>T	13	20763760	20763760	A	T	GJB2	c.-22-18T>A	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20763760A>T	VUS	1 lab	4cfa9e16ae
16:18532182 NOMO2 A>T	16	18532182	18532182	A	T	NOMO2	c.2178T>A	NM_173614.4	NP_775885.1:p.(Asn726Lys)	NC_000016.9:g.18532182A>T	(Likely) benign	1 lab	4cfc6cb9aa
5:13859644 DNAH5 C>T	5	13859644	13859644	C	T	DNAH5	c.4867G>A	NM_001369.3	NP_001360.1:p.(Glu1623Lys)	NC_000005.9:g.13859644C>T	VUS	1 lab	1f7b6206e9
20:23346182 GZF1 C>T	20	23346182	23346182	C	T	GZF1	c.1162C>T	NM_022482.5	NP_071927.1:p.(Arg388Cys)	NC_000020.10:g.23346182C>T	VUS	1 lab	4cfe9e5a2f
9:34658573 IL11RA C>T	9	34658573	34658573	C	T	IL11RA	c.703C>T	NM_001142784.3	NP_001136256.1:p.(Arg235Cys)	NC_000009.11:g.34658573C>T	VUS	1 lab	4cff8f4793
14:65234086 SPTB G>T	14	65234086	65234086	G	T	SPTB	c.6220-16C>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234086G>T	(Likely) benign	1 lab	2011344b7e
17:37239747 PLXDC1 C>A	17	37239747	37239747	C	A	PLXDC1	c.954G>T	NM_020405.5	NP_065138.2:p.(Leu318=)	NC_000017.10:g.37239747C>A	(Likely) benign	1 lab	4d0013549c
2:10930008 PDIA6 C>T	2	10930008	10930008	C	T	PDIA6	c.707G>A	NM_005742.4	NP_005733.1:p.(Gly236Glu)	NC_000002.11:g.10930008C>T	VUS	1 lab	4d004ff490
17:1679820 SERPINF1 T>C	17	1679820	1679820	T	C	SERPINF1	c.787-6T>C	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1679820T>C	(Likely) benign	1 lab	4d00bec1f1
10:47700939 ANTXRL G>C	10	47700939	47700939	G	C	ANTXRL	c.1515G>C	NM_001278688.3	NP_001265617.1:p.(Gln505His)	NC_000010.10:g.47700939G>C	(Likely) benign	1 lab	4d0365639c
2:113331373 POLR1B A>G	2	113331373	113331373	A	G	POLR1B	c.2506A>G	NM_019014.6	NP_061887.2:p.(Ser836Gly)	NC_000002.11:g.113331373A>G	(Likely) benign	1 lab	4d03816259
16:68847292 CDH1 A>G	16	68847292	68847292	A	G	CDH1	c.1214A>G	NM_004360.5	NP_004351.1:p.(Asn405Ser)	NC_000016.9:g.68847292A>G	(Likely) benign	1 lab	4d03859640
11:20122714 NAV2 G>T	11	20122714	20122714	G	T	NAV2	c.6413G>T	NM_145117.5	NP_660093.2:p.(Ser2138Ile)	NC_000011.9:g.20122714G>T	VUS	1 lab	4d03a7bab9
9:731233 KANK1 A>G	9	731233	731233	A	G	KANK1	c.2972A>G	NM_015158.5	NP_055973.2:p.(Lys991Arg)	NC_000009.11:g.731233A>G	VUS	1 lab	4d054fdd70
16:3293337 MEFV C>A	16	3293337	3293337	C	A	MEFV	c.2150G>T	NM_000243.2	NP_000234.1:p.(Arg717Leu)	NC_000016.9:g.3293337C>A	VUS	1 lab	2013698db0
3:141923632 GK5 T>C	3	141923632	141923632	T	C	GK5	c.318-2A>G	NM_001039547.3	NP_001034636.1:p.?	NC_000003.11:g.141923632T>C	VUS	1 lab	4d0805367d
7:26411433 SNX10 T>A	7	26411433	26411433	T	A	SNX10	c.312-8T>A	NM_013322.3	NP_037454.2:p.?	NC_000007.13:g.26411433T>A	(Likely) benign	1 lab	4d0976a78c
9:117124123 AKNA G>A	9	117124123	117124123	G	A	AKNA	c.1985C>T	NM_001317950.2	NP_001304879.1:p.(Thr662Ile)	NC_000009.11:g.117124123G>A	(Likely) benign	1 lab	4d0a2e2f88
19:42880839 MEGF8 G>C	19	42880839	42880839	G	C	MEGF8	c.8450G>C	NM_001271938.2	NP_001258867.1:p.(Gly2817Ala)	NC_000019.9:g.42880839G>C	VUS	1 lab	4d0a4365b3
14:77746769 POMT2 G>A	14	77746769	77746769	G	A	POMT2	c.1691C>T	NM_013382.7	NP_037514.2:p.(Thr564Met)	NC_000014.8:g.77746769G>A	VUS	1 lab	4d0aad481d
14:105849180 PACS2 G>A	14	105849180	105849180	G	A	PACS2	c.1555G>A	NM_001100913.3	NP_001094383.2:p.(Val519Met)	NC_000014.8:g.105849180G>A	VUS	1 lab	4d0bbc099f
5:136315081 SPOCK1 A>T	5	136315081	136315081	A	T	SPOCK1	c.1069T>A	NM_004598.4	NP_004589.1:p.(Cys357Ser)	NC_000005.9:g.136315081A>T	VUS	1 lab	4d0e29a2ab
22:42607438 TCF20 C>T	22	42607438	42607438	C	T	TCF20	c.3874G>A	NM_001378418.1	NP_001365347.1:p.(Ala1292Thr)	NC_000022.10:g.42607438C>T	(Likely) benign	1 lab	4d0e413f94
10:7608054 ITIH5 G>T	10	7608054	7608054	G	T	ITIH5	c.2466C>A	NM_030569.7	NP_085046.5:p.(His822Gln)	NC_000010.10:g.7608054G>T	(Likely) benign	1 lab	4d0e7fd04f
4:188924389 ZFP42 A>G	4	188924389	188924389	A	G	ZFP42	c.428A>G	NM_174900.5	NP_777560.2:p.(Tyr143Cys)	NC_000004.11:g.188924389A>G	(Likely) benign	1 lab	4d0eb64fc8
7:6054991 AIMP2 C>T	7	6054991	6054991	C	T	AIMP2	c.342+8C>T	NM_006303.4	NP_006294.2:p.?	NC_000007.13:g.6054991C>T	(Likely) benign	1 lab	4d0ed8efd3
14:64065699 WDR89 G>A	14	64065699	64065699	G	A	WDR89	c.962C>T	NM_080666.4	NP_542397.1:p.(Ala321Val)	NC_000014.8:g.64065699G>A	VUS	1 lab	4d0fcf33bb
5:127686688 FBN2 T>C	5	127686688	127686688	T	C	FBN2	c.2684A>G	NM_001999.4	NP_001990.2:p.(Lys895Arg)	NC_000005.9:g.127686688T>C	(Likely) benign	1 lab	4d1067c54b
13:38320594 TRPC4 T>TAA	13	38320594	38320606	T	TAA	TRPC4	c.379-4_379-3dup	NM_016179.4	NP_057263.1:p.?	NC_000013.10:g.38320605_38320606dup	(Likely) benign	1 lab	4d1070300f
12:98927830 TMPO C>G	12	98927830	98927830	C	G	TMPO	c.1795C>G	NM_003276.2	NP_003267.1:p.(Gln599Glu)	NC_000012.11:g.98927830C>G	(Likely) benign	1 lab	1f7bcc7de8
10:69955226 MYPN G>T	10	69955226	69955226	G	T	MYPN	c.3095G>T	NM_032578.4	NP_115967.2:p.(Gly1032Val)	NC_000010.10:g.69955226G>T	VUS	1 lab	4d10b9dc76
9:87570254 NTRK2 C>T	9	87570254	87570254	C	T	NTRK2	c.1994C>T	NM_006180.6	NP_006171.2:p.(Thr665Met)	NC_000009.11:g.87570254C>T	VUS	1 lab	4d10ce4b51
X:114541197 LUZP4 A>G	X	114541197	114541197	A	G	LUZP4	c.770A>G	NM_016383.5	NP_057467.1:p.(Lys257Arg)	NC_000023.10:g.114541197A>G	VUS	1 lab	4d1103b001
20:62737500 NPBWR2 A>G	20	62737500	62737500	A	G	NPBWR2	c.685T>C	NM_005286.4	NP_005277.2:p.(Cys229Arg)	NC_000020.10:g.62737500A>G	VUS	1 lab	4d11e81af4
2:220435836 OBSL1 G>C	2	220435836	220435836	G	C	OBSL1	c.119C>G	NM_015311.3	NP_056126.1:p.(Pro40Arg)	NC_000002.11:g.220435836G>C	(Likely) benign	1 lab	4d11fc0ecc
9:129453346 LMX1B C>T	9	129453346	129453346	C	T	LMX1B	c.558C>T	NM_001174147.2	NP_001167618.1:p.(Ser186=)	NC_000009.11:g.129453346C>T	VUS	1 lab	4d12a109b7
X:69615684 KIF4A C>T	X	69615684	69615684	C	T	KIF4A	c.2388+8C>T	NM_012310.5	NP_036442.3:p.?	NC_000023.10:g.69615684C>T	VUS	1 lab	4d139f6751
3:178938835 PIK3CA C>T	3	178938835	178938835	C	T	PIK3CA	c.2077C>T	NM_006218.4	NP_006209.2:p.(Arg693Cys)	NC_000003.11:g.178938835C>T	VUS	1 lab	4d13d06e06
6:51893047 PKHD1 G>A	6	51893047	51893047	G	A	PKHD1	c.3467C>T	NM_138694.4	NP_619639.3:p.(Ser1156Leu)	NC_000006.11:g.51893047G>A	VUS	1 lab	4d1405fa73
20:56098746 CTCFL G>A	20	56098746	56098746	G	A	CTCFL	c.516C>T	NM_001386993.1	NP_001373922.1:p.(Ser172=)	NC_000020.10:g.56098746G>A	(Likely) benign	1 lab	4d144e2897
8:10466010 RP1L1 C>A	8	10466010	10466010	C	A	RP1L1	c.5598G>T	NM_178857.6	NP_849188.4:p.(Glu1866Asp)	NC_000008.10:g.10466010C>A	VUS	1 lab	4d17121935
16:1995863 RPL3L G>C	16	1995863	1995863	G	C	RPL3L	c.1020C>G	NM_005061.3	NP_005052.1:p.(Thr340=)	NC_000016.9:g.1995863G>C	(Likely) benign	1 lab	4d192f5d3b
2:27669198 IFT172 CAGAA>C	2	27669198	27669204	CAGAA	C	IFT172	c.4680_4683del	NM_015662.3	NP_056477.1:p.(Ser1561PhefsTer12)	NC_000002.11:g.27669201_27669204del	(Likely) pathogenic	1 lab	4d1be38cbb
21:47822322 PCNT C>G	21	47822322	47822322	C	G	PCNT	c.5040C>G	NM_006031.6	NP_006022.3:p.(Asn1680Lys)	NC_000021.8:g.47822322C>G	(Likely) benign	1 lab	4d1c1cb54c
1:160147403 ATP1A4 C>A	1	160147403	160147403	C	A	ATP1A4	c.2685C>A	NM_144699.4	NP_653300.2:p.(His895Gln)	NC_000001.10:g.160147403C>A	VUS	1 lab	4d1d91bb69
4:47765475 CORIN G>A	4	47765475	47765475	G	A	CORIN	c.538C>T	NM_006587.4	NP_006578.2:p.(Arg180Cys)	NC_000004.11:g.47765475G>A	VUS	1 lab	4d1dbbf6a9
1:229622260 NUP133 C>T	1	229622260	229622260	C	T	NUP133	c.1358G>A	NM_018230.3	NP_060700.2:p.(Gly453Asp)	NC_000001.10:g.229622260C>T	VUS	1 lab	4d1ed45638
18:51887070 C18orf54 A>G	18	51887070	51887070	A	G	C18orf54	c.128A>G	NM_001288980.2	NP_001275909.1:p.(Lys43Arg)	NC_000018.9:g.51887070A>G	(Likely) benign	1 lab	4d208a1439
10:95549870 LGI1 A>G	10	95549870	95549870	A	G	LGI1	c.446A>G	NM_005097.3	NP_005088.1:p.(Asn149Ser)	NC_000010.10:g.95549870A>G	VUS	1 lab	2014344d10
12:48375889 COL2A1 C>T	12	48375889	48375889	C	T	COL2A1	c.2355+1G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375889C>T	VUS	1 lab	4d217456e5
10:48370618 ZNF488 C>T	10	48370618	48370618	C	T	ZNF488	c.86C>T	NM_153034.4	NP_694579.1:p.(Ser29Leu)	NC_000010.10:g.48370618C>T	(Likely) benign	1 lab	4d21f38544
11:103187354 DYNC2H1 G>A	11	103187354	103187354	G	A	DYNC2H1	c.11725+5G>A	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103187354G>A	VUS	1 lab	4d22cc6763
8:38103270 DDHD2 C>T	8	38103270	38103270	C	T	DDHD2	c.859C>T	NM_001362912.2	NP_001349841.1:p.(Arg287Ter)	NC_000008.10:g.38103270C>T	(Likely) pathogenic	1 lab	1f7ea06bd2
4:69696467 UGT2B10 A>G	4	69696467	69696467	A	G	UGT2B10	c.1457A>G	NM_001075.6	NP_001066.1:p.(Gln486Arg)	NC_000004.11:g.69696467A>G	VUS	1 lab	4d26cf7020
11:111781153 CRYAB C>G	11	111781153	111781153	C	G	CRYAB	c.222G>C	NM_001885.3	NP_001876.1:p.(Arg74Ser)	NC_000011.9:g.111781153C>G	VUS	1 lab	1f8049701c
1:120457968 NOTCH2 C>T	1	120457968	120457968	C	T	NOTCH2	c.7377G>A	NM_024408.4	NP_077719.2:p.(Met2459Ile)	NC_000001.10:g.120457968C>T	(Likely) benign	1 lab	4d287cf5dd
6:70408964 LMBRD1 T>C	6	70408964	70408964	T	C	LMBRD1	c.1309A>G	NM_018368.4	NP_060838.3:p.(Met437Val)	NC_000006.11:g.70408964T>C	VUS	1 lab	4d29da63e0
11:77034319 PAK1 T>G	11	77034319	77034319	T	G	PAK1	c.1638A>C	NM_002576.5	NP_002567.3:p.(Ter546TyrextTer14)	NC_000011.9:g.77034319T>G	VUS	1 lab	4d2a222447
1:152287168 FLG T>C	1	152287168	152287168	T	C	FLG	c.194A>G	NM_002016.2	NP_002007.1:p.(His65Arg)	NC_000001.10:g.152287168T>C	(Likely) benign	1 lab	4d2a997b52
22:18898468 DGCR6 G>A	22	18898468	18898468	G	A	DGCR6	c.440G>A	NM_005675.6	NP_005666.2:p.(Arg147Gln)	NC_000022.10:g.18898468G>A	(Likely) benign	1 lab	4d2e869af7
4:123663853 BBS12 T>TA	4	123663853	123663854	T	TA	BBS12	c.807dup	NM_152618.3	NP_689831.2:p.(Glu270ArgfsTer42)	NC_000004.11:g.123663854dup	(Likely) pathogenic	1 lab	4d2f258868
16:2813668 SRRM2 G>A	16	2813668	2813668	G	A	SRRM2	c.3139G>A	NM_016333.4	NP_057417.3:p.(Glu1047Lys)	NC_000016.9:g.2813668G>A	(Likely) benign	1 lab	4d2fcbb315
13:39264083 FREM2 C>G	13	39264083	39264083	C	G	FREM2	c.2602C>G	NM_207361.6	NP_997244.4:p.(Leu868Val)	NC_000013.10:g.39264083C>G	(Likely) benign	1 lab	201ade1c9c
11:125488415 STT3A A>G	11	125488415	125488415	A	G	STT3A	c.1922A>G	NM_152713.5	NP_689926.1:p.(Lys641Arg)	NC_000011.9:g.125488415A>G	VUS	1 lab	4d32f0723e
17:38250363 NR1D1 G>A	17	38250363	38250363	G	A	NR1D1	c.1447C>T	NM_021724.5	NP_068370.1:p.(Arg483Cys)	NC_000017.10:g.38250363G>A	(Likely) benign	1 lab	4d3310060e
9:35801986 NPR2 G>A	9	35801986	35801986	G	A	NPR2	c.1621G>A	NM_003995.4	NP_003986.2:p.(Gly541Ser)	NC_000009.11:g.35801986G>A	VUS	1 lab	4d3365b20e
18:45395793 SMAD2 C>T	18	45395793	45395793	C	T	SMAD2	c.341G>A	NM_005901.6	NP_005892.1:p.(Arg114His)	NC_000018.9:g.45395793C>T	VUS	1 lab	4d343e61ab
X:111874836 LHFPL1 G>A	X	111874836	111874836	G	A	LHFPL1	c.482-7C>T	NM_178175.4	NP_835469.1:p.?	NC_000023.10:g.111874836G>A	VUS	1 lab	4d35fa8cd8
11:68201073 LRP5 C>T	11	68201073	68201073	C	T	LRP5	c.3767C>T	NM_002335.4	NP_002326.2:p.(Pro1256Leu)	NC_000011.9:g.68201073C>T	VUS	1 lab	4d36169786
5:149782840 CD74 G>A	5	149782840	149782840	G	A	CD74	c.661C>T	NM_001025159.3	NP_001020330.1:p.(Pro221Ser)	NC_000005.9:g.149782840G>A	(Likely) benign	1 lab	4d361a276a
19:42793352 CIC C>T	19	42793352	42793352	C	T	CIC	c.1154C>T	NM_015125.5	NP_055940.3:p.(Ser385Leu)	NC_000019.9:g.42793352C>T	VUS	1 lab	1f80a6a2fd
12:113823096 PLBD2 C>T	12	113823096	113823096	C	T	PLBD2	c.1286+8C>T	NM_173542.4	NP_775813.2:p.?	NC_000012.11:g.113823096C>T	(Likely) benign	1 lab	4d394aa5da
2:110936052 NPHP1 T>A	2	110936052	110936052	T	A	NPHP1	c.277A>T	NM_001128178.3	NP_001121650.1:p.(Thr93Ser)	NC_000002.11:g.110936052T>A	(Likely) benign	1 lab	4d3a2ae40f
3:134338098 KY A>G	3	134338098	134338098	A	G	KY	c.602T>C	NM_178554.6	NP_848649.3:p.(Ile201Thr)	NC_000003.11:g.134338098A>G	VUS	1 lab	4d3a8ce9d0
15:89398658 ACAN G>T	15	89398658	89398658	G	T	ACAN	c.2842G>T	NM_001369268.1	NP_001356197.1:p.(Ala948Ser)	NC_000015.9:g.89398658G>T	(Likely) benign	1 lab	4d3d790d85
16:1257792 CACNA1H C>T	16	1257792	1257792	C	T	CACNA1H	c.3086C>T	NM_021098.3	NP_066921.2:p.(Thr1029Met)	NC_000016.9:g.1257792C>T	VUS	1 lab	4d3dddd6ec
16:2169172 PKD1 T>G	16	2169172	2169172	T	G	PKD1	c.302A>C	NM_001009944.3	NP_001009944.3:p.(Asn101Thr)	NC_000016.9:g.2169172T>G	VUS	1 lab	4d3fd7188b
7:2583225 BRAT1 G>A	7	2583225	2583225	G	A	BRAT1	c.802C>T	NM_152743.4	NP_689956.2:p.(Arg268Cys)	NC_000007.13:g.2583225G>A	VUS	1 lab	4d4073758c
20:37174963 RALGAPB T>G	20	37174963	37174963	T	G	RALGAPB	c.2792T>G	NM_020336.4	NP_065069.1:p.(Leu931Trp)	NC_000020.10:g.37174963T>G	VUS	1 lab	4d41d90bfc
X:31200848 DMD C>T	X	31200848	31200848	C	T	DMD	c.9974+7G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31200848C>T	(Likely) benign	1 lab	4d4229aa45
13:31227339 USPL1 G>T	13	31227339	31227339	G	T	USPL1	c.1293G>T	NM_005800.5	NP_005791.3:p.(Leu431Phe)	NC_000013.10:g.31227339G>T	(Likely) benign	1 lab	4d43452d8a
5:137217758 MYOT G>A	5	137217758	137217758	G	A	MYOT	c.780G>A	NM_006790.3	NP_006781.1:p.(Ser260=)	NC_000005.9:g.137217758G>A	VUS	1 lab	4d43bbb493
4:175898265 ADAM29 G>A	4	175898265	175898265	G	A	ADAM29	c.1589G>A	NM_014269.4	NP_055084.3:p.(Arg530His)	NC_000004.11:g.175898265G>A	VUS	1 lab	4d4418ca3a
11:102815075 MMP13 C>T	11	102815075	102815075	C	T	MMP13	c.1336G>A	NM_002427.4	NP_002418.1:p.(Gly446Arg)	NC_000011.9:g.102815075C>T	VUS	1 lab	4d45dee7ff
12:7242001 C1R C>T	12	7242001	7242001	C	T	C1R	c.656G>A	NM_001733.7	NP_001724.4:p.(Arg219His)	NC_000012.11:g.7242001C>T	(Likely) benign	1 lab	4d462daada
20:62038253 KCNQ2 A>T	20	62038253	62038253	A	T	KCNQ2	c.2363T>A	NM_172107.4	NP_742105.1:p.(Ile788Asn)	NC_000020.10:g.62038253A>T	VUS	1 lab	4d4647cbc3
11:71946469 INPPL1 G>A	11	71946469	71946469	G	A	INPPL1	c.2633G>A	NM_001567.4	NP_001558.3:p.(Arg878His)	NC_000011.9:g.71946469G>A	VUS	1 lab	4d466c16a1
16:70714936 MTSS2 G>A	16	70714936	70714936	G	A	MTSS2	c.70-8C>T	NM_138383.3	NP_612392.1:p.?	NC_000016.9:g.70714936G>A	(Likely) benign	1 lab	4d469cfe96
14:39543636 SEC23A G>C	14	39543636	39543636	G	C	SEC23A	c.1086C>G	NM_006364.4	NP_006355.2:p.(Cys362Trp)	NC_000014.8:g.39543636G>C	VUS	1 lab	4d4787b396
1:100366386 AGL ATGATTC>A	1	100366386	100366394	ATGATTC	A	AGL	c.3560_3565del	NM_000642.3	NP_000633.2:p.(Asp1187_Ser1188del)	NC_000001.10:g.100366389_100366394del	VUS	1 lab	4d47c37307
3:133362940 TOPBP1 G>A	3	133362940	133362940	G	A	TOPBP1	c.1772C>T	NM_007027.4	NP_008958.2:p.(Ala591Val)	NC_000003.11:g.133362940G>A	VUS	1 lab	4d4800afd0
X:15315747 ASB11 G>T	X	15315747	15315747	G	T	ASB11	c.318C>A	NM_080873.3	NP_543149.1:p.(Cys106Ter)	NC_000023.10:g.15315747G>T	VUS	1 lab	4d493f24bb
16:3304696 MEFV G>A	16	3304696	3304696	G	A	MEFV	c.372C>T	NM_000243.2	NP_000234.1:p.(Pro124=)	NC_000016.9:g.3304696G>A	(Likely) benign	1 lab	20206608a3
X:15618941 ACE2 A>G	X	15618941	15618941	A	G	ACE2	c.94T>C	NM_001371415.1	NP_001358344.1:p.(Phe32Leu)	NC_000023.10:g.15618941A>G	(Likely) benign	1 lab	4d4df48b82
X:151821412 GABRQ G>A	X	151821412	151821412	G	A	GABRQ	c.1567G>A	NM_018558.4	NP_061028.3:p.(Gly523Ser)	NC_000023.10:g.151821412G>A	VUS	1 lab	4d4e4b029f
20:60893979 LAMA5 C>T	20	60893979	60893979	C	T	LAMA5	c.6962G>A	NM_005560.6	NP_005551.3:p.(Arg2321Gln)	NC_000020.10:g.60893979C>T	(Likely) benign	1 lab	4d4e90cd02
3:43121927 POMGNT2 G>A	3	43121927	43121927	G	A	POMGNT2	c.997C>T	NM_032806.6	NP_116195.2:p.(Arg333Trp)	NC_000003.11:g.43121927G>A	VUS	1 lab	4d4ebfa433
X:23928481 CXorf58 A>G	X	23928481	23928481	A	G	CXorf58	c.62A>G	NM_152761.3	NP_689974.2:p.(Gln21Arg)	NC_000023.10:g.23928481A>G	(Likely) benign	1 lab	4d503b3268
17:36047350 HNF1B G>T	17	36047350	36047350	G	T	HNF1B	c.*25C>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047350G>T	VUS	1 lab	4d50cae340
5:157171222 LSM11 G>T	5	157171222	157171222	G	T	LSM11	c.448+16G>T	NM_173491.4	NP_775762.1:p.?	NC_000005.9:g.157171222G>T	(Likely) benign	1 lab	20207b67f2
14:23871742 MYH6 T>C	14	23871742	23871742	T	C	MYH6	c.1072A>G	NM_002471.4	NP_002462.2:p.(Met358Val)	NC_000014.8:g.23871742T>C	VUS	1 lab	4d560fa461
3:55504461 WNT5A C>G	3	55504461	55504461	C	G	WNT5A	c.802G>C	NM_003392.7	NP_003383.4:p.(Glu268Gln)	NC_000003.11:g.55504461C>G	(Likely) benign	1 lab	4d587abee2
3:47103678 SETD2 G>A	3	47103678	47103678	G	A	SETD2	c.6268C>T	NM_014159.7	NP_054878.5:p.(Arg2090Trp)	NC_000003.11:g.47103678G>A	(Likely) benign	1 lab	4d58eb308f
14:50605425 SOS2 T>TA	14	50605425	50605426	T	TA	SOS2	c.2862_2863insT	NM_006939.4	NP_008870.2:p.(Asn955Ter)	NC_000014.8:g.50605425_50605426insA	VUS	1 lab	4d58f6faa9
1:152283470 FLG A>C	1	152283470	152283470	A	C	FLG	c.3892T>G	NM_002016.2	NP_002007.1:p.(Ser1298Ala)	NC_000001.10:g.152283470A>C	(Likely) benign	1 lab	4d5bacbb35
9:135946723 CEL G>A	9	135946723	135946723	G	A	CEL	c.1834G>A	NM_001807.6	NP_001798.3:p.(Ala612Thr)	NC_000009.11:g.135946723G>A	(Likely) benign	1 lab	4d5c97e2c1
3:123021994 ADCY5 C>G	3	123021994	123021994	C	G	ADCY5	c.2632G>C	NM_183357.3	NP_899200.1:p.(Ala878Pro)	NC_000003.11:g.123021994C>G	(Likely) benign	1 lab	4d5d801d0f
1:16257610 SPEN G>C	1	16257610	16257610	G	C	SPEN	c.4875G>C	NM_015001.3	NP_055816.2:p.(Glu1625Asp)	NC_000001.10:g.16257610G>C	VUS	1 lab	4d5dc41868
2:10183903 KLF11 C>G	2	10183903	10183903	C	G	KLF11	c.42+18C>G	NM_003597.5	NP_003588.1:p.?	NC_000002.11:g.10183903C>G	(Likely) benign	1 lab	4d5df74e7b
16:3293550 MEFV G>A	16	3293550	3293550	G	A	MEFV	c.1937C>T	NM_000243.2	NP_000234.1:p.(Pro646Leu)	NC_000016.9:g.3293550G>A	VUS	1 lab	20259ac057
12:6184506 VWF G>A	12	6184506	6184506	G	A	VWF	c.869C>T	NM_000552.5	NP_000543.3:p.(Ala290Val)	NC_000012.11:g.6184506G>A	VUS	1 lab	4d60141944
12:31254836 DDX11 C>T	12	31254836	31254836	C	T	DDX11	c.2122C>T	NM_030653.4	NP_085911.2:p.(Pro708Ser)	NC_000012.11:g.31254836C>T	VUS	1 lab	4d607eaf6a
1:3644293 TP73 T>C	1	3644293	3644293	T	C	TP73	c.944T>C	NM_005427.4	NP_005418.1:p.(Leu315Pro)	NC_000001.10:g.3644293T>C	VUS	1 lab	4d61f76d28
6:83896759 PGM3 T>G	6	83896759	83896759	T	G	PGM3	c.425A>C	NM_015599.3	NP_056414.1:p.(Asp142Ala)	NC_000006.11:g.83896759T>G	VUS	1 lab	4d6340f4e1
19:1469371 APC2 C>T	19	1469371	1469371	C	T	APC2	c.6071C>T	NM_005883.3	NP_005874.1:p.(Ala2024Val)	NC_000019.9:g.1469371C>T	(Likely) benign	1 lab	4d63492041
1:16262012 SPEN C>G	1	16262012	16262012	C	G	SPEN	c.9277C>G	NM_015001.3	NP_055816.2:p.(Leu3093Val)	NC_000001.10:g.16262012C>G	VUS	1 lab	4d6557522f
10:81058155 ZMIZ1 C>G	10	81058155	81058155	C	G	ZMIZ1	c.1492-8C>G	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.81058155C>G	(Likely) benign	1 lab	4d67463e40
X:15266926 ASB9 G>T	X	15266926	15266926	G	T	ASB9	c.700C>A	NM_001031739.3	NP_001026909.1:p.(Arg234Ser)	NC_000023.10:g.15266926G>T	VUS	1 lab	4d676b219a
9:104500010 GRIN3A C>A	9	104500010	104500010	C	A	GRIN3A	c.252G>T	NM_133445.3	NP_597702.2:p.(Gly84=)	NC_000009.11:g.104500010C>A	VUS	1 lab	4d67ea28db
11:6565462 DNHD1 T>C	11	6565462	6565462	T	C	DNHD1	c.3740T>C	NM_144666.3	NP_653267.2:p.(Ile1247Thr)	NC_000011.9:g.6565462T>C	(Likely) benign	1 lab	4d6858b7d3
12:121426645 HNF1A G>A	12	121426645	121426645	G	A	HNF1A	c.336G>A	NM_000545.8	NP_000536.6:p.(Pro112=)	NC_000012.11:g.121426645G>A	(Likely) benign	1 lab	4d69d5b9e3
9:135946920 CEL GC>G	9	135946920	135946929	GC	G	CEL	c.2040del	NM_001807.6	NP_001798.3:p.(Val681CysfsTer23)	NC_000009.11:g.135946929del	(Likely) benign	1 lab	4d6ad9b1c3
9:98248132 PTCH1 A>G	9	98248132	98248132	A	G	PTCH1	c.419T>C	NM_000264.5	NP_000255.2:p.(Leu140Ser)	NC_000009.11:g.98248132A>G	VUS	1 lab	4d6bf26cbf
11:96124835 JRKL G>A	11	96124835	96124835	G	A	JRKL	c.1022G>A	NM_001261833.2	NP_001248762.1:p.(Gly341Asp)	NC_000011.9:g.96124835G>A	VUS	1 lab	4d6c6b3926
7:2583499 BRAT1 C>T	7	2583499	2583499	C	T	BRAT1	c.528G>A	NM_152743.4	NP_689956.2:p.(Met176Ile)	NC_000007.13:g.2583499C>T	(Likely) benign	1 lab	4d6ef24123
8:144886073 SCRIB C>A	8	144886073	144886073	C	A	SCRIB	c.3158G>T	NM_182706.5	NP_874365.3:p.(Arg1053Leu)	NC_000008.10:g.144886073C>A	VUS	1 lab	4d7038ef76
8:104924277 RIMS2 TCAGCACC>T	8	104924277	104924285	TCAGCACC	T	RIMS2	c.1966-2_1970del	NM_001348484.3	NP_001335413.1:p.?	NC_000008.10:g.104924279_104924285del	(Likely) pathogenic	1 lab	4d7283561b
3:121208703 POLQ CTTT>C	3	121208703	121208709	CTTT	C	POLQ	c.3072_3074del	NM_199420.4	NP_955452.3:p.(Lys1025del)	NC_000003.11:g.121208707_121208709del	(Likely) benign	1 lab	4d72aa6851
9:27220086 TEK A>T	9	27220086	27220086	A	T	TEK	c.3143A>T	NM_000459.5	NP_000450.3:p.(Tyr1048Phe)	NC_000009.11:g.27220086A>T	VUS	1 lab	4d73846214
20:53266996 DOK5 C>T	20	53266996	53266996	C	T	DOK5	c.899C>T	NM_018431.5	NP_060901.2:p.(Pro300Leu)	NC_000020.10:g.53266996C>T	VUS	1 lab	4d73d34523
X:37026748 FAM47C G>A	X	37026748	37026748	G	A	FAM47C	c.265G>A	NM_001013736.3	NP_001013758.1:p.(Asp89Asn)	NC_000023.10:g.37026748G>A	VUS	1 lab	4d7561789d
1:226040477 TMEM63A G>C	1	226040477	226040477	G	C	TMEM63A	c.1798-7C>G	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226040477G>C	(Likely) benign	1 lab	4d75c88e9b
7:92733409 SAMD9 C>T	7	92733409	92733409	C	T	SAMD9	c.2002G>A	NM_017654.4	NP_060124.2:p.(Asp668Asn)	NC_000007.13:g.92733409C>T	(Likely) benign	1 lab	4d7ae03a06
1:152285021 FLG C>G	1	152285021	152285021	C	G	FLG	c.2341G>C	NM_002016.2	NP_002007.1:p.(Asp781His)	NC_000001.10:g.152285021C>G	(Likely) benign	1 lab	4d7b35003c
16:14721036 PARN G>A	16	14721036	14721036	G	A	PARN	c.254C>T	NM_002582.4	NP_002573.1:p.(Thr85Met)	NC_000016.9:g.14721036G>A	(Likely) benign	1 lab	4d7df2ed5e
X:53226021 KDM5C C>T	X	53226021	53226021	C	T	KDM5C				NC_000023.10:g.53226021C>T	(Likely) benign	1 lab	202803913f
7:107569872 LAMB1 T>G	7	107569872	107569872	T	G	LAMB1	c.4730A>C	NM_002291.3	NP_002282.2:p.(Glu1577Ala)	NC_000007.13:g.107569872T>G	VUS	1 lab	4d7f708b2d
2:44513238 SLC3A1 T>C	2	44513238	44513238	T	C	SLC3A1	c.833T>C	NM_000341.4	NP_000332.2:p.(Phe278Ser)	NC_000002.11:g.44513238T>C	VUS	1 lab	4d7fc08bd7
19:18092919 KCNN1 C>G	19	18092919	18092919	C	G	KCNN1	c.900C>G	NM_001386974.1	NP_001373903.1:p.(Thr300=)	NC_000019.9:g.18092919C>G	VUS	1 lab	4d800a2d8d
8:116631850 TRPS1 C>G	8	116631850	116631850	C	G	TRPS1	c.475G>C	NM_014112.5	NP_054831.2:p.(Asp159His)	NC_000008.10:g.116631850C>G	VUS	1 lab	4d8052a9cb
16:89836427 FANCA C>T	16	89836427	89836427	C	T	FANCA	c.2322G>A	NM_000135.4	NP_000126.2:p.(Pro774=)	NC_000016.9:g.89836427C>T	VUS	1 lab	4d823f8ce0
19:1462157 APC2 G>A	19	1462157	1462157	G	A	APC2	c.1834G>A	NM_005883.3	NP_005874.1:p.(Ala612Thr)	NC_000019.9:g.1462157G>A	(Likely) benign	1 lab	4d82d1b4a3
10:123989893 TACC2 A>T	10	123989893	123989893	A	T	TACC2	c.8065A>T	NM_206862.4	NP_996744.4:p.(Ile2689Leu)	NC_000010.10:g.123989893A>T	VUS	1 lab	4d83e23138
20:50310547 ATP9A G>A	20	50310547	50310547	G	A	ATP9A	c.642C>T	NM_006045.3	NP_006036.1:p.(Ala214=)	NC_000020.10:g.50310547G>A	(Likely) benign	1 lab	4d840ceb61
6:30919119 MUCL3 A>G	6	30919119	30919119	A	G	MUCL3	c.2878A>G	NM_080870.4	NP_543146.2:p.(Lys960Glu)	NC_000006.11:g.30919119A>G	(Likely) benign	1 lab	4d8499f84a
4:66189927 EPHA5 G>A	4	66189927	66189927	G	A	EPHA5	c.2956C>T	NM_001281766.3	NP_001268695.1:p.(Arg986Trp)	NC_000004.11:g.66189927G>A	(Likely) benign	1 lab	4d85845aff
19:618575 POLRMT G>A	19	618575	618575	G	A	POLRMT	c.3335C>T	NM_005035.4	NP_005026.3:p.(Thr1112Ile)	NC_000019.9:g.618575G>A	(Likely) benign	1 lab	4d8623eb3b
3:38524731 ACVR2B A>G	3	38524731	38524731	A	G	ACVR2B	c.1447A>G	NM_001106.4	NP_001097.2:p.(Arg483Gly)	NC_000003.11:g.38524731A>G	VUS	1 lab	4d8754a6e0
19:44352529 ZNF283 CCATACTAATG>C	19	44352529	44352539	CCATACTAATG	C	ZNF283	c.1777_1786del	NM_181845.2	NP_862828.1:p.(His593ArgfsTer86)	NC_000019.9:g.44352530_44352539del	VUS	1 lab	4d88ee627f
3:142275255 ATR T>C	3	142275255	142275255	T	C	ATR	c.2048A>G	NM_001184.4	NP_001175.2:p.(Asn683Ser)	NC_000003.11:g.142275255T>C	VUS	1 lab	4d88f918a4
6:159002001 TMEM181 A>G	6	159002001	159002001	A	G	TMEM181	c.142A>G	NM_001376852.1	NP_001363781.1:p.(Asn48Asp)	NC_000006.11:g.159002001A>G	(Likely) benign	1 lab	4d895948ab
13:97639595 OXGR1 C>G	13	97639595	97639595	C	G	OXGR1	c.419G>C	NM_001346194.2	NP_001333123.1:p.(Ser140Thr)	NC_000013.10:g.97639595C>G	VUS	1 lab	4d8a002ad4
7:98606006 TRRAP G>A	7	98606006	98606006	G	A	TRRAP	c.10760G>A	NM_001375524.1	NP_001362453.1:p.(Arg3587Gln)	NC_000007.13:g.98606006G>A	(Likely) benign	1 lab	4d8a87b9c6
1:120483218 NOTCH2 C>T	1	120483218	120483218	C	T	NOTCH2	c.3143G>A	NM_024408.4	NP_077719.2:p.(Arg1048His)	NC_000001.10:g.120483218C>T	VUS	1 lab	4d8abbe858
10:123256114 FGFR2 T>A	10	123256114	123256114	T	A	FGFR2	c.1795A>T	NM_000141.5	NP_000132.3:p.(Thr599Ser)	NC_000010.10:g.123256114T>A	(Likely) benign	1 lab	4d8cab9bdc
2:179410297 TTN C>T	2	179410297	179410297	C	T	TTN	c.95540G>A	NM_001267550.2	NP_001254479.2:p.(Arg31847His)	NC_000002.11:g.179410297C>T	VUS	1 lab	4d8cb45437
16:56377830 GNAO1 G>A	16	56377830	56377830	G	A	GNAO1	c.723+7058G>A	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56377830G>A	(Likely) benign	1 lab	4d8f2f247f
7:56007041 ZNF713 A>C	7	56007041	56007041	A	C	ZNF713	c.674A>C	NM_182633.3	NP_872439.2:p.(Tyr225Ser)	NC_000007.13:g.56007041A>C	(Likely) benign	1 lab	4d8f493f09
21:47671440 MCM3AP C>A	21	47671440	47671440	C	A	MCM3AP	c.4290+3G>T	NM_003906.5	NP_003897.2:p.?	NC_000021.8:g.47671440C>A	VUS	1 lab	4e450217cc
7:77708131 MAGI2 A>G	7	77708131	77708131	A	G	MAGI2	c.3706+133T>C	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77708131A>G	(Likely) benign	1 lab	20298cce6e
6:163836376 QKI C>G	6	163836376	163836376	C	G	QKI	c.142+9C>G	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163836376C>G	(Likely) benign	1 lab	4d9067207b
8:145657702 TONSL TC>T	8	145657702	145657704	TC	T	TONSL	c.3700del	NM_013432.5	NP_038460.4:p.(Asp1234ThrfsTer17)	NC_000008.10:g.145657704del	VUS	1 lab	4d91ee9fae
6:153073295 VIP C>T	6	153073295	153073295	C	T	VIP	c.-10-8C>T	NM_003381.4	NP_003372.1:p.?	NC_000006.11:g.153073295C>T	(Likely) benign	1 lab	4d92a7146d
22:26422656 MYO18B C>G	22	26422656	26422656	C	G	MYO18B	c.6716C>G	NM_032608.7	NP_115997.5:p.(Ser2239Trp)	NC_000022.10:g.26422656C>G	(Likely) benign	1 lab	4d92d17ce2
X:46943984 RGN G>A	X	46943984	46943984	G	A	RGN	c.331G>A	NM_152869.4	NP_690608.1:p.(Gly111Arg)	NC_000023.10:g.46943984G>A	VUS	1 lab	4d932a0f42
15:90210390 PLIN1 C>T	15	90210390	90210390	C	T	PLIN1	c.986G>A	NM_002666.5	NP_002657.3:p.(Arg329Gln)	NC_000015.9:g.90210390C>T	(Likely) benign	1 lab	4d94fc838f
X:108719047 GUCY2F G>C	X	108719047	108719047	G	C	GUCY2F	c.119C>G	NM_001522.3	NP_001513.2:p.(Ser40Cys)	NC_000023.10:g.108719047G>C	(Likely) benign	1 lab	4d96ef05a4
11:118377021 KMT2A C>T	11	118377021	118377021	C	T	KMT2A	c.10414C>T	NM_001197104.2	NP_001184033.1:p.(Gln3472Ter)	NC_000011.9:g.118377021C>T	(Likely) pathogenic	1 lab	4d9769df07
20:62293235 RTEL1 G>A	20	62293235	62293235	G	A	RTEL1	c.334G>A	NM_001283009.2	NP_001269938.1:p.(Ala112Thr)	NC_000020.10:g.62293235G>A	VUS	1 lab	4d97727422
X:41029345 USP9X A>G	X	41029345	41029345	A	G	USP9X	c.2734A>G	NM_001039590.3	NP_001034679.2:p.(Ile912Val)	NC_000023.10:g.41029345A>G	VUS	1 lab	1f88086dec
14:100706222 YY1 C>T	14	100706222	100706222	C	T	YY1	c.641C>T	NM_003403.5	NP_003394.1:p.(Thr214Ile)	NC_000014.8:g.100706222C>T	VUS	1 lab	4d98dbabbf
11:111728319 ALG9 T>C	11	111728319	111728319	T	C	ALG9	c.701+6A>G	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111728319T>C	(Likely) benign	1 lab	4d9a65f381
6:7246976 RREB1 G>GGGCGACGGCGAGGCA	6	7246976	7246995	G	GGGCGACGGCGAGGCA	RREB1	c.4298_4312dup	NM_001003699.4	NP_001003699.1:p.(Asp1433_Gly1437dup)	NC_000006.11:g.7246981_7246995dup	VUS	1 lab	1f8ac61abe
20:35884861 GHRH G>A	20	35884861	35884861	G	A	GHRH	c.124C>T	NM_021081.6	NP_066567.1:p.(Arg42Trp)	NC_000020.10:g.35884861G>A	VUS	1 lab	4d9b87460a
7:156746876 NOM1 G>A	7	156746876	156746876	G	A	NOM1	c.1192G>A	NM_138400.2	NP_612409.1:p.(Asp398Asn)	NC_000007.13:g.156746876G>A	VUS	1 lab	4d9f473a8a
17:66596518 FAM20A G>A	17	66596518	66596518	G	A	FAM20A	c.290C>T	NM_017565.4	NP_060035.2:p.(Ala97Val)	NC_000017.10:g.66596518G>A	(Likely) benign	1 lab	4d9fb26faa
16:2156795 PKD1 T>C	16	2156795	2156795	T	C	PKD1	c.7209+11A>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2156795T>C	(Likely) benign	1 lab	4da0b92441
8:42977566 POMK G>T	8	42977566	42977566	G	T	POMK	c.599G>T	NM_032237.5	NP_115613.1:p.(Arg200Leu)	NC_000008.10:g.42977566G>T	(Likely) benign	1 lab	4da2761de4
6:152708446 SYNE1 C>T	6	152708446	152708446	C	T	SYNE1	c.8248G>A	NM_182961.4	NP_892006.3:p.(Glu2750Lys)	NC_000006.11:g.152708446C>T	VUS	1 lab	4da2923d39
4:1210002 CTBP1 G>A	4	1210002	1210002	G	A	CTBP1	c.515-9C>T	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1210002G>A	(Likely) benign	1 lab	4da3478891
16:86613143 FOXL1 G>A	16	86613143	86613143	G	A	FOXL1	c.814G>A	NM_005250.3	NP_005241.1:p.(Gly272Ser)	NC_000016.9:g.86613143G>A	(Likely) benign	1 lab	4da4814c8e
4:16188416 TAPT1 C>G	4	16188416	16188416	C	G	TAPT1	c.834G>C	NM_153365.3	NP_699196.2:p.(Met278Ile)	NC_000004.11:g.16188416C>G	VUS	1 lab	4da6b7ea80
8:42176165 IKBKB C>T	8	42176165	42176165	C	T	IKBKB	c.1336C>T	NM_001556.3	NP_001547.1:p.(Arg446Trp)	NC_000008.10:g.42176165C>T	VUS	1 lab	4da732a587
19:18266936 PIK3R2 CT>C	19	18266936	18266937	CT	C	PIK3R2	c.248del	NM_005027.4	NP_005018.2:p.(Leu83ArgfsTer47)	NC_000019.9:g.18266937del	VUS	1 lab	4dae732a8c
15:42680910 CAPN3 C>T	15	42680910	42680910	C	T	CAPN3	c.633-216C>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42680910C>T	(Likely) benign	1 lab	20314b707d
1:214542934 PTPN14 G>C	1	214542934	214542934	G	C	PTPN14	c.3137C>G	NM_005401.5	NP_005392.2:p.(Thr1046Arg)	NC_000001.10:g.214542934G>C	(Likely) benign	1 lab	4daf5cbdd6
11:67938703 KMT5B C>T	11	67938703	67938703	C	T	KMT5B	c.836G>A	NM_017635.5	NP_060105.3:p.(Cys279Tyr)	NC_000011.9:g.67938703C>T	VUS	1 lab	4daf829360
16:51175157 SALL1 A>C	16	51175157	51175157	A	C	SALL1	c.976T>G	NM_002968.3	NP_002959.2:p.(Ser326Ala)	NC_000016.9:g.51175157A>C	(Likely) benign	1 lab	4dafc134f0
5:127640777 FBN2 A>G	5	127640777	127640777	A	G	FBN2	c.5675-3T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640777A>G	(Likely) benign	1 lab	4db152b9c1
14:105421143 AHNAK2 CAT>C	14	105421143	105421146	CAT	C	AHNAK2	c.652-9_652-8del	NM_138420.4	NP_612429.2:p.?	NC_000014.8:g.105421145_105421146del	(Likely) benign	1 lab	4db2455674
2:73828337 ALMS1 T>C	2	73828337	73828337	T	C	ALMS1	c.11888T>C	NM_001378454.1	NP_001365383.1:p.(Val3963Ala)	NC_000002.11:g.73828337T>C	(Likely) benign	1 lab	4db28ff7ad
10:52067916 SGMS1 G>T	10	52067916	52067916	G	T	SGMS1	c.896-8C>A	NM_147156.4	NP_671512.1:p.?	NC_000010.10:g.52067916G>T	(Likely) benign	1 lab	4db3cff9e2
7:100855119 PLOD3 T>G	7	100855119	100855119	T	G	PLOD3	c.1232+8A>C	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855119T>G	(Likely) benign	1 lab	4db3f55972
1:236959003 MTR C>T	1	236959003	236959003	C	T	MTR	c.-1C>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236959003C>T	VUS	1 lab	4db3f803fe
11:108188191 ATM A>AC	11	108188191	108188192	A	AC	ATM	c.6290_6291insC	NM_000051.4	NP_000042.3:p.(Glu2097AspfsTer30)	NC_000011.9:g.108188191_108188192insC	(Likely) pathogenic	1 lab	4db697c7b6
16:336888 PDIA2 C>CA	16	336888	336890	C	CA	PDIA2	c.1478dup	NM_006849.4	NP_006840.2:p.(Asn493LysfsTer64)	NC_000016.9:g.336890dup	(Likely) benign	1 lab	4db8cb75e9
4:85724474 WDFY3 A>C	4	85724474	85724474	A	C	WDFY3	c.2576T>G	NM_014991.6	NP_055806.2:p.(Leu859Arg)	NC_000004.11:g.85724474A>C	VUS	1 lab	4dba16d761
12:57637889 STAC3 G>C	12	57637889	57637889	G	C	STAC3	c.978C>G	NM_145064.3	NP_659501.1:p.(Ile326Met)	NC_000012.11:g.57637889G>C	VUS	1 lab	4dba59a213
2:27688640 IFT172 G>A	2	27688640	27688640	G	A	IFT172	c.1802C>T	NM_015662.3	NP_056477.1:p.(Thr601Ile)	NC_000002.11:g.27688640G>A	VUS	1 lab	4dbb53565b
16:72993557 ZFHX3 C>T	16	72993557	72993557	C	T	ZFHX3	c.488G>A	NM_006885.4	NP_008816.3:p.(Ser163Asn)	NC_000016.9:g.72993557C>T	VUS	1 lab	4dbc1ff2de
3:169482651 TERC G>A	3	169482651	169482651	G	A	TERC	n.198C>T	NR_001566.1		NC_000003.11:g.169482651G>A	VUS	1 lab	1f8afd722b
2:179434877 TTN G>A	2	179434877	179434877	G	A	TTN	c.75982C>T	NM_001267550.2	NP_001254479.2:p.(Pro25328Ser)	NC_000002.11:g.179434877G>A	VUS	1 lab	4dbfd86fbb
14:101347284 RTL1 C>G	14	101347284	101347284	C	G	RTL1	c.3842G>C	NM_001134888.3	NP_001128360.1:p.(Arg1281Pro)	NC_000014.8:g.101347284C>G	VUS	1 lab	4dc0d7291e
5:64756164 ADAMTS6 T>C	5	64756164	64756164	T	C	ADAMTS6	c.464A>G	NM_197941.4	NP_922932.2:p.(His155Arg)	NC_000005.9:g.64756164T>C	VUS	1 lab	4dc11d53aa
6:43581586 POLH G>A	6	43581586	43581586	G	A	POLH	c.1434G>A	NM_006502.3	NP_006493.1:p.(Thr478=)	NC_000006.11:g.43581586G>A	(Likely) benign	1 lab	4dc2f19659
2:238245008 COL6A3 G>A	2	238245008	238245008	G	A	COL6A3	c.8735C>T	NM_004369.4	NP_004360.2:p.(Pro2912Leu)	NC_000002.11:g.238245008G>A	(Likely) benign	1 lab	4dc8061952
5:171481667 STK10 G>A	5	171481667	171481667	G	A	STK10	c.2558C>T	NM_005990.4	NP_005981.3:p.(Ser853Leu)	NC_000005.9:g.171481667G>A	(Likely) benign	1 lab	4dc9dfb2e6
6:99365582 FBXL4 A>G	6	99365582	99365582	A	G	FBXL4	c.526T>C	NM_001278716.2	NP_001265645.1:p.(Trp176Arg)	NC_000006.11:g.99365582A>G	VUS	1 lab	4dc9eb4303
10:72645662 PCBD1 C>T	10	72645662	72645662	C	T	PCBD1	c.28G>A	NM_000281.4	NP_000272.1:p.(Ala10Thr)	NC_000010.10:g.72645662C>T	(Likely) benign	1 lab	4dcad6de03
6:152536134 SYNE1 T>C	6	152536134	152536134	T	C	SYNE1	c.22253A>G	NM_182961.4	NP_892006.3:p.(Tyr7418Cys)	NC_000006.11:g.152536134T>C	VUS	1 lab	4dcc3f5fa3
6:45390332 RUNX2 C>A	6	45390332	45390332	C	A	RUNX2	c.61C>A	NM_001024630.4	NP_001019801.3:p.(Pro21Thr)	NC_000006.11:g.45390332C>A	VUS	1 lab	4dcca892c0
10:50830155 CHAT C>G	10	50830155	50830155	C	G	CHAT	c.711C>G	NM_020549.5	NP_065574.4:p.(Ser237Arg)	NC_000010.10:g.50830155C>G	(Likely) benign	1 lab	4dcd1867d4
12:49431654 KMT2D C>T	12	49431654	49431654	C	T	KMT2D	c.9485G>A	NM_003482.4	NP_003473.3:p.(Gly3162Asp)	NC_000012.11:g.49431654C>T	(Likely) benign	1 lab	4dce02ad26
1:235952002 LYST G>A	1	235952002	235952002	G	A	LYST	c.4687C>T	NM_000081.4	NP_000072.2:p.(Arg1563Cys)	NC_000001.10:g.235952002G>A	VUS	1 lab	4dce2c822e
16:88781314 CTU2 C>T	16	88781314	88781314	C	T	CTU2	c.1399C>T	NM_001012759.3	NP_001012777.1:p.(Arg467Cys)	NC_000016.9:g.88781314C>T	(Likely) benign	1 lab	4dd18ee36a
2:202501606 TMEM237 T>C	2	202501606	202501606	T	C	TMEM237	c.139A>G	NM_001044385.3	NP_001037850.1:p.(Ser47Gly)	NC_000002.11:g.202501606T>C	VUS	1 lab	4dd38b6129
X:106031215 RNF128 G>A	X	106031215	106031215	G	A	RNF128	c.872G>A	NM_194463.2	NP_919445.1:p.(Arg291His)	NC_000023.10:g.106031215G>A	VUS	1 lab	4dd3997a4e
9:131454215 SET G>A	9	131454215	131454215	G	A	SET	c.210G>A	NM_003011.4	NP_003002.2:p.(Lys70=)	NC_000009.11:g.131454215G>A	(Likely) benign	1 lab	4dd462cca5
1:16273507 ZBTB17 G>A	1	16273507	16273507	G	A	ZBTB17	c.317C>T	NM_003443.3	NP_003434.2:p.(Thr106Met)	NC_000001.10:g.16273507G>A	VUS	1 lab	4dd5f0a9f5
20:47887250 ZNFX1 T>C	20	47887250	47887250	T	C	ZNFX1	c.1099A>G	NM_021035.3	NP_066363.1:p.(Ile367Val)	NC_000020.10:g.47887250T>C	(Likely) benign	1 lab	4dd61e5202
15:48766816 FBN1 GT>G	15	48766816	48766818	GT	G	FBN1	c.3995del	NM_000138.5	NP_000129.3:p.(Asn1332ThrfsTer81)	NC_000015.9:g.48766818del	(Likely) pathogenic	1 lab	4dd6c78110
17:39911981 JUP C>A	17	39911981	39911981	C	A	JUP	c.*15G>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39911981C>A	VUS	1 lab	4dd72a8cd9
12:6687197 CHD4 T>C	12	6687197	6687197	T	C	CHD4	c.5226A>G	NM_001273.5	NP_001264.2:p.(Ile1742Met)	NC_000012.11:g.6687197T>C	VUS	1 lab	4dd757f2ac
X:148797899 MAGEA11 T>A	X	148797899	148797899	T	A	MAGEA11	c.753T>A	NM_005366.5	NP_005357.2:p.(Ser251Arg)	NC_000023.10:g.148797899T>A	(Likely) benign	1 lab	4dd82cc167
6:152560676 SYNE1 T>C	6	152560676	152560676	T	C	SYNE1	c.20059A>G	NM_182961.4	NP_892006.3:p.(Ile6687Val)	NC_000006.11:g.152560676T>C	(Likely) benign	1 lab	4dd86ffcdd
4:1805432 FGFR3 A>C	4	1805432	1805432	A	C	FGFR3	c.944A>C	NM_000142.5	NP_000133.1:p.(Asn315Thr)	NC_000004.11:g.1805432A>C	(Likely) benign	1 lab	4dd8edd247
19:55870936 GARIN5B G>A	19	55870936	55870936	G	A	GARIN5B	c.1300C>T	NM_001145402.2	NP_001138874.1:p.(Pro434Ser)	NC_000019.9:g.55870936G>A	(Likely) benign	1 lab	4dd8f62e80
6:47563669 CD2AP C>A	6	47563669	47563669	C	A	CD2AP	c.1181C>A	NM_012120.3	NP_036252.1:p.(Pro394Gln)	NC_000006.11:g.47563669C>A	(Likely) benign	1 lab	20317fa0d8
12:48272808 VDR C>T	12	48272808	48272808	C	T	VDR	c.89G>A	NM_000376.3	NP_000367.1:p.(Arg30Gln)	NC_000012.11:g.48272808C>T	(Likely) benign	1 lab	4ddcb7c81f
11:34111844 CAPRIN1 C>G	11	34111844	34111844	C	G	CAPRIN1	c.1404+8C>G	NM_005898.5	NP_005889.3:p.?	NC_000011.9:g.34111844C>G	(Likely) benign	1 lab	4ddcf898e7
19:38954106 RYR1 C>T	19	38954106	38954106	C	T	RYR1	c.2621C>T	NM_000540.3	NP_000531.2:p.(Ala874Val)	NC_000019.9:g.38954106C>T	VUS	1 lab	4dddeecc10
14:23884446 MYH7 G>T	14	23884446	23884446	G	T	MYH7	c.5317C>A	NM_000257.4	NP_000248.2:p.(Gln1773Lys)	NC_000014.8:g.23884446G>T	VUS	1 lab	1f8d92379b
2:71206965 ANKRD53 CT>C	2	71206965	71206966	CT	C	ANKRD53	c.593del	NM_001115116.2	NP_001108588.1:p.(Leu198ArgfsTer30)	NC_000002.11:g.71206966del	VUS	1 lab	4ddfa7c1a0
17:40257080 DHX58 C>T	17	40257080	40257080	C	T	DHX58	c.1357G>A	NM_024119.3	NP_077024.2:p.(Val453Met)	NC_000017.10:g.40257080C>T	VUS	1 lab	4de0766701
1:155270053 PKLR C>T	1	155270053	155270053	C	T	PKLR	c.119G>A	NM_000298.6	NP_000289.1:p.(Arg40Gln)	NC_000001.10:g.155270053C>T	VUS	1 lab	20335752ea
1:152280331 FLG G>T	1	152280331	152280331	G	T	FLG	c.7031C>A	NM_002016.2	NP_002007.1:p.(Ser2344Ter)	NC_000001.10:g.152280331G>T	(Likely) pathogenic	1 lab	4de259a7e7
12:122372183 CFAP251 G>A	12	122372183	122372183	G	A	CFAP251	c.919G>A	NM_144668.6	NP_653269.3:p.(Val307Ile)	NC_000012.11:g.122372183G>A	(Likely) benign	1 lab	4de50e9c59
9:135940439 CEL T>G	9	135940439	135940439	T	G	CEL	c.353T>G	NM_001807.6	NP_001798.3:p.(Leu118Arg)	NC_000009.11:g.135940439T>G	(Likely) benign	1 lab	4de610aa35
10:76788416 KAT6B A>C	10	76788416	76788416	A	C	KAT6B	c.3834A>C	NM_012330.4	NP_036462.2:p.(Glu1278Asp)	NC_000010.10:g.76788416A>C	(Likely) benign	1 lab	4de6e14222
5:141022569 FCHSD1 C>T	5	141022569	141022569	C	T	FCHSD1	c.1950G>A	NM_033449.3	NP_258260.1:p.(Gly650=)	NC_000005.9:g.141022569C>T	(Likely) benign	1 lab	4de6fd9720
2:220416420 OBSL1 G>T	2	220416420	220416420	G	T	OBSL1	c.5514C>A	NM_015311.3	NP_056126.1:p.(His1838Gln)	NC_000002.11:g.220416420G>T	(Likely) benign	1 lab	4de86e2948
11:62433981 CSKMT C>T	11	62433981	62433981	C	T	CSKMT	c.181C>T	NM_001043229.2	NP_001036694.1:p.(Gln61Ter)	NC_000011.9:g.62433981C>T	VUS	1 lab	4de8b22ef7
21:47851638 PCNT A>G	21	47851638	47851638	A	G	PCNT	c.8260A>G	NM_006031.6	NP_006022.3:p.(Thr2754Ala)	NC_000021.8:g.47851638A>G	VUS	1 lab	4de9be6cc4
9:138660680 KCNT1 C>G	9	138660680	138660680	C	G	KCNT1	c.1407C>G	NM_020822.3	NP_065873.2:p.(His469Gln)	NC_000009.11:g.138660680C>G	(Likely) benign	1 lab	4dea38453c
14:75139801 AREL1 G>A	14	75139801	75139801	G	A	AREL1	c.1279C>T	NM_001039479.2	NP_001034568.1:p.(Arg427Cys)	NC_000014.8:g.75139801G>A	VUS	1 lab	4dea433e62
15:100673438 ADAMTS17 GT>G	15	100673438	100673439	GT	G	ADAMTS17	c.1555del	NM_139057.4	NP_620688.2:p.(Thr519ProfsTer15)	NC_000015.9:g.100673439del	(Likely) pathogenic	1 lab	4dec65a16b
11:299300 IFITM5 C>T	11	299300	299300	C	T	IFITM5	c.186+5G>A	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.299300C>T	VUS	1 lab	4decce1887
22:51117520 SHANK3 TG>T	22	51117520	51117526	TG	T	SHANK3	c.905del	NM_001372044.2	NP_001358973.1:p.(Gly302ValfsTer153)	NC_000022.10:g.51117526del	VUS	1 lab	4decd62015
6:149699815 TAB2 C>T	6	149699815	149699815	C	T	TAB2	c.764C>T	NM_001292034.3	NP_001278963.1:p.(Pro255Leu)	NC_000006.11:g.149699815C>T	VUS	1 lab	4deceff2b2
5:79030759 CMYA5 G>A	5	79030759	79030759	G	A	CMYA5	c.6171G>A	NM_153610.5	NP_705838.3:p.(Val2057=)	NC_000005.9:g.79030759G>A	(Likely) benign	1 lab	2038573081
16:1397757 BAIAP3 C>T	16	1397757	1397757	C	T	BAIAP3	c.2960C>T	NM_001199097.2	NP_001186026.1:p.(Ala987Val)	NC_000016.9:g.1397757C>T	(Likely) benign	1 lab	4dee2f2650
2:45169995 SIX3 GCAA>G	2	45169995	45169999	GCAA	G	SIX3	c.754_756del	NM_005413.4	NP_005404.1:p.(Asn252del)	NC_000002.11:g.45169997_45169999del	(Likely) pathogenic	1 lab	1f8e0f48ce
3:168838939 MECOM C>T	3	168838939	168838939	C	T	MECOM	c.1037G>A	NM_004991.4	NP_004982.2:p.(Arg346Gln)	NC_000003.11:g.168838939C>T	VUS	1 lab	4defb42343
14:75558152 NEK9 C>T	14	75558152	75558152	C	T	NEK9	c.2263G>A	NM_033116.6	NP_149107.4:p.(Gly755Ser)	NC_000014.8:g.75558152C>T	(Likely) benign	1 lab	4defd2224a
16:23614809 PALB2 C>CA	16	23614809	23614810	C	CA	PALB2	c.3531dup	NM_024675.4	NP_078951.2:p.(Gly1178TrpfsTer12)	NC_000016.9:g.23614810dup	VUS	1 lab	1f8f845997
6:43014345 CUL7 G>C	6	43014345	43014345	G	C	CUL7	c.2398-6C>G	NM_014780.5	NP_055595.2:p.?	NC_000006.11:g.43014345G>C	(Likely) benign	1 lab	4df13966df
15:72302697 MYO9A C>T	15	72302697	72302697	C	T	MYO9A	c.1247G>A	NM_006901.4	NP_008832.2:p.(Arg416Gln)	NC_000015.9:g.72302697C>T	VUS	1 lab	4df37d1e3e
11:17656433 OTOG G>T	11	17656433	17656433	G	T	OTOG	c.7523G>T	NM_001292063.2	NP_001278992.1:p.(Arg2508Leu)	NC_000011.9:g.17656433G>T	VUS	1 lab	4df4468e33
X:103420469 FAM199X CTCT>C	X	103420469	103420478	CTCT	C	FAM199X	c.370_372del	NM_207318.4	NP_997201.1:p.(Ser124del)	NC_000023.10:g.103420476_103420478del	VUS	1 lab	4df44aec13
16:58742190 GOT2 C>T	16	58742190	58742190	C	T	GOT2	c.1178G>A	NM_002080.4	NP_002071.2:p.(Arg393Gln)	NC_000016.9:g.58742190C>T	VUS	1 lab	4df45eb76e
9:108337220 FKTN T>C	9	108337220	108337220	T	C	FKTN	c.-88-6T>C	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108337220T>C	(Likely) benign	1 lab	4df5b3f7ac
2:241685497 KIF1A A>C	2	241685497	241685497	A	C	KIF1A	c.3161T>G	NM_001244008.2	NP_001230937.1:p.(Val1054Gly)	NC_000002.11:g.241685497A>C	(Likely) benign	1 lab	4df62f1b11
7:137798475 AKR1D1 A>G	7	137798475	137798475	A	G	AKR1D1	c.895A>G	NM_005989.4	NP_005980.1:p.(Ile299Val)	NC_000007.13:g.137798475A>G	(Likely) benign	1 lab	4df6790933
7:42079847 GLI3 T>C	7	42079847	42079847	T	C	GLI3	c.827-9A>G	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42079847T>C	VUS	1 lab	4e759207f3
11:111782283 CRYAB G>A	11	111782283	111782283	G	A	CRYAB	c.166C>T	NM_001885.3	NP_001876.1:p.(Arg56Trp)	NC_000011.9:g.111782283G>A	VUS	1 lab	1f918d989b
5:14488200 TRIO C>T	5	14488200	14488200	C	T	TRIO	c.7463C>T	NM_007118.4	NP_009049.2:p.(Ser2488Phe)	NC_000005.9:g.14488200C>T	VUS	1 lab	4df97ca457
5:122426168 PRDM6 T>TGGC	5	122426168	122426182	T	TGGC	PRDM6	c.471_473dup	NM_001136239.4	NP_001129711.1:p.(Gly158dup)	NC_000005.9:g.122426180_122426182dup	VUS	1 lab	4dfa7bdfc9
2:179575512 TTN G>A	2	179575512	179575512	G	A	TTN	c.28312C>T	NM_001267550.2	NP_001254479.2:p.(Arg9438Ter)	NC_000002.11:g.179575512G>A	VUS	1 lab	1f92a1a1f2
15:28501264 HERC2 C>T	15	28501264	28501264	C	T	HERC2	c.2717G>A	NM_004667.6	NP_004658.3:p.(Arg906Gln)	NC_000015.9:g.28501264C>T	VUS	1 lab	1f9924dceb
1:9804063 CLSTN1 T>C	1	9804063	9804063	T	C	CLSTN1	c.1235A>G	NM_001009566.3	NP_001009566.1:p.(Asp412Gly)	NC_000001.10:g.9804063T>C	VUS	1 lab	4dfe3b0da9
14:23855315 MYH6 G>T	14	23855315	23855315	G	T	MYH6	c.4985C>A	NM_002471.4	NP_002462.2:p.(Ala1662Glu)	NC_000014.8:g.23855315G>T	VUS	1 lab	4dfe9824bf
17:44626866 LRRC37A2 T>C	17	44626866	44626866	T	C	LRRC37A2	c.4361T>C	NM_001006607.3	NP_001006608.2:p.(Leu1454Pro)	NC_000017.10:g.44626866T>C	(Likely) benign	1 lab	4dffb50189
19:41860701 B9D2 G>A	19	41860701	41860701	G	A	B9D2	c.432C>T	NM_030578.4	NP_085055.2:p.(Ala144=)	NC_000019.9:g.41860701G>A	(Likely) benign	1 lab	203d26a735
9:35794090 NPR2 A>C	9	35794090	35794090	A	C	NPR2	c.863A>C	NM_003995.4	NP_003986.2:p.(Glu288Ala)	NC_000009.11:g.35794090A>C	(Likely) benign	1 lab	4e04880596
X:153596775 FLNA C>A	X	153596775	153596775	C	A	FLNA	c.374-317G>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153596775C>A	(Likely) benign	1 lab	4e05f338e4
20:62038524 KCNQ2 G>A	20	62038524	62038524	G	A	KCNQ2	c.2092C>T	NM_172107.4	NP_742105.1:p.(Gln698Ter)	NC_000020.10:g.62038524G>A	(Likely) pathogenic	1 lab	204099272f
4:144465019 SMARCA5 A>G	4	144465019	144465019	A	G	SMARCA5	c.2066A>G	NM_003601.4	NP_003592.3:p.(Asn689Ser)	NC_000004.11:g.144465019A>G	VUS	1 lab	4e0997f26b
15:86791048 AGBL1 C>T	15	86791048	86791048	C	T	AGBL1	c.673C>T	NM_001386094.1	NP_001373023.1:p.(Arg225Trp)	NC_000015.9:g.86791048C>T	(Likely) benign	1 lab	4e0a5053c9
16:2161743 PKD1 C>T	16	2161743	2161743	C	T	PKD1	c.3425G>A	NM_001009944.3	NP_001009944.3:p.(Arg1142Gln)	NC_000016.9:g.2161743C>T	(Likely) benign	1 lab	4e0a950d21
5:36985980 NIPBL T>A	5	36985980	36985980	T	A	NIPBL	c.2698T>A	NM_133433.4	NP_597677.2:p.(Ser900Thr)	NC_000005.9:g.36985980T>A	(Likely) benign	1 lab	4e0bda652b
19:35250036 ZNF599 T>C	19	35250036	35250036	T	C	ZNF599	c.1670A>G	NM_001007248.3	NP_001007249.1:p.(His557Arg)	NC_000019.9:g.35250036T>C	VUS	1 lab	4e0c8f71f7
17:26862025 FOXN1 T>C	17	26862025	26862025	T	C	FOXN1	c.1436T>C	NM_001369369.1	NP_001356298.1:p.(Leu479Pro)	NC_000017.10:g.26862025T>C	(Likely) benign	1 lab	4e0da72477
3:58067471 FLNB T>C	3	58067471	58067471	T	C	FLNB	c.755T>C	NM_001457.4	NP_001448.2:p.(Leu252Pro)	NC_000003.11:g.58067471T>C	VUS	1 lab	4e0ddb3750
17:56276470 EPX G>A	17	56276470	56276470	G	A	EPX	c.1190G>A	NM_000502.6	NP_000493.1:p.(Arg397Gln)	NC_000017.10:g.56276470G>A	VUS	1 lab	4e10dac616
12:31249858 DDX11 A>G	12	31249858	31249858	A	G	DDX11	c.1696A>G	NM_030653.4	NP_085911.2:p.(Ile566Val)	NC_000012.11:g.31249858A>G	(Likely) benign	1 lab	4e11a6e729
8:86240881 CA1 A>T	8	86240881	86240881	A	T	CA1	c.694T>A	NM_001128831.4	NP_001122303.1:p.(Ser232Thr)	NC_000008.10:g.86240881A>T	VUS	1 lab	4e126c04da
6:102069874 GRIK2 G>T	6	102069874	102069874	G	T	GRIK2	c.166G>T	NM_021956.5	NP_068775.1:p.(Ala56Ser)	NC_000006.11:g.102069874G>T	VUS	1 lab	4e1317ffdd
4:119666133 SEC24D T>A	4	119666133	119666133	T	A	SEC24D	c.1790A>T	NM_014822.4	NP_055637.2:p.(Asp597Val)	NC_000004.11:g.119666133T>A	VUS	1 lab	4e1463b06b
9:127622499 RPL35 T>C	9	127622499	127622499	T	C	RPL35	c.185A>G	NM_007209.4	NP_009140.1:p.(Asn62Ser)	NC_000009.11:g.127622499T>C	(Likely) benign	1 lab	4e156f5926
16:50741858 NOD2 C>T	16	50741858	50741858	C	T	NOD2	c.633C>T	NM_022162.1	NP_071445.1:p.(Ala211=)	NC_000016.9:g.50741858C>T	(Likely) benign	1 lab	2041429e4e
6:32796653 TAP2 C>A	6	32796653	32796653	C	A	TAP2	c.*30G>T	NM_001290043.2	NP_001276972.1:p.?	NC_000006.11:g.32796653C>A	(Likely) benign	1 lab	1fa3ef8d76
10:73377163 CDH23 A>G	10	73377163	73377163	A	G	CDH23	c.1134+13A>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73377163A>G	(Likely) benign	1 lab	4e1914cd3a
5:36986297 NIPBL A>G	5	36986297	36986297	A	G	NIPBL	c.3015A>G	NM_133433.4	NP_597677.2:p.(Leu1005=)	NC_000005.9:g.36986297A>G	(Likely) benign	1 lab	4e197bb02a
17:37822279 TCAP C>G	17	37822279	37822279	C	G	TCAP	c.421C>G	NM_003673.3	NP_003664.1:p.(Pro141Ala)	NC_000017.10:g.37822279C>G	VUS	1 lab	2042c3d633
9:304636 DOCK8 T>A	9	304636	304636	T	A	DOCK8	c.460T>A	NM_203447.4	NP_982272.2:p.(Phe154Ile)	NC_000009.11:g.304636T>A	(Likely) benign	1 lab	4e1d2f4ca2
2:239306252 TRAF3IP1 G>A	2	239306252	239306252	G	A	TRAF3IP1	c.1842G>A	NM_015650.4	NP_056465.2:p.(Met614Ile)	NC_000002.11:g.239306252G>A	VUS	1 lab	4e1ee50a66
11:639650 DRD4 T>TCGTGGC	11	639650	639666	T	TCGTGGC	DRD4	c.412_417dup	NM_000797.4	NP_000788.2:p.(Ala138_Val139dup)	NC_000011.9:g.639661_639666dup	VUS	1 lab	4e1f424445
22:46762969 CELSR1 C>T	22	46762969	46762969	C	T	CELSR1	c.8126G>A	NM_001378328.1	NP_001365257.1:p.(Arg2709Gln)	NC_000022.10:g.46762969C>T	(Likely) benign	1 lab	4e1f4b6cdb
18:19751880 GATA6 G>A	18	19751880	19751880	G	A	GATA6	c.775G>A	NM_005257.6	NP_005248.2:p.(Val259Ile)	NC_000018.9:g.19751880G>A	VUS	1 lab	4e1fc847ff
11:116706755 APOA1 G>T	11	116706755	116706755	G	T	APOA1	c.573C>A	NM_000039.3	NP_000030.1:p.(Ser191Arg)	NC_000011.9:g.116706755G>T	VUS	1 lab	4e22af3347
4:994780 IDUA G>A	4	994780	994780	G	A	IDUA	c.493+3G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.994780G>A	VUS	1 lab	4e23f816fe
X:12725604 FRMPD4 C>T	X	12725604	12725604	C	T	FRMPD4	c.1304C>T	NM_001368397.1	NP_001355326.1:p.(Ser435Leu)	NC_000023.10:g.12725604C>T	VUS	1 lab	4e243f4cc6
2:113498458 CKAP2L C>T	2	113498458	113498458	C	T	CKAP2L	c.1949G>A	NM_152515.5	NP_689728.3:p.(Arg650Gln)	NC_000002.11:g.113498458C>T	(Likely) benign	1 lab	4e24439c37
3:69168628 LMOD3 C>T	3	69168628	69168628	C	T	LMOD3	c.878G>A	NM_198271.5	NP_938012.2:p.(Gly293Asp)	NC_000003.11:g.69168628C>T	(Likely) benign	1 lab	4e256990f7
19:15303221 NOTCH3 G>A	19	15303221	15303221	G	A	NOTCH3	c.307C>T	NM_000435.3	NP_000426.2:p.(Arg103Ter)	NC_000019.9:g.15303221G>A	(Likely) pathogenic	1 lab	4e26461c32
5:64181326 CWC27 A>C	5	64181326	64181326	A	C	CWC27	c.995A>C	NM_005869.4	NP_005860.2:p.(Gln332Pro)	NC_000005.9:g.64181326A>C	(Likely) benign	1 lab	4e2701c256
12:49443601 KMT2D A>G	12	49443601	49443601	A	G	KMT2D	c.3770T>C	NM_003482.4	NP_003473.3:p.(Leu1257Pro)	NC_000012.11:g.49443601A>G	VUS	1 lab	4e277d3865
7:44185121 GCK C>T	7	44185121	44185121	C	T	GCK	c.1228G>A	NM_000162.5	NP_000153.1:p.(Gly410Ser)	NC_000007.13:g.44185121C>T	(Likely) pathogenic	1 lab	4e278943b1
11:102206714 BIRC3 C>T	11	102206714	102206714	C	T	BIRC3	c.1342C>T	NM_001165.5	NP_001156.1:p.(Arg448Trp)	NC_000011.9:g.102206714C>T	(Likely) benign	1 lab	4e29df58d0
2:170103223 LRP2 C>G	2	170103223	170103223	C	G	LRP2	c.3182G>C	NM_004525.3	NP_004516.2:p.(Gly1061Ala)	NC_000002.11:g.170103223C>G	VUS	1 lab	4e2a5e5da1
2:54080338 GPR75 G>A	2	54080338	54080338	G	A	GPR75	c.1556C>T	NM_006794.4	NP_006785.1:p.(Thr519Ile)	NC_000002.11:g.54080338G>A	VUS	1 lab	4e2ae866cb
16:1515338 CLCN7 G>A	16	1515338	1515338	G	A	CLCN7	c.143C>T	NM_001287.6	NP_001278.1:p.(Ser48Leu)	NC_000016.9:g.1515338G>A	(Likely) benign	1 lab	4e2b993cab
17:42962625 EFTUD2 C>G	17	42962625	42962625	C	G	EFTUD2	c.349G>C	NM_004247.4	NP_004238.3:p.(Asp117His)	NC_000017.10:g.42962625C>G	VUS	1 lab	4e2cd77cc3
11:102825189 MMP13 T>G	11	102825189	102825189	T	G	MMP13	c.509A>C	NM_002427.4	NP_002418.1:p.(Lys170Thr)	NC_000011.9:g.102825189T>G	(Likely) benign	1 lab	4e2d2a1390
21:45833794 TRPM2 C>G	21	45833794	45833794	C	G	TRPM2	c.2983C>G	NM_003307.4	NP_003298.2:p.(His995Asp)	NC_000021.8:g.45833794C>G	(Likely) benign	1 lab	4e2d83c8da
8:11400805 BLK C>T	8	11400805	11400805	C	T	BLK	c.72C>T	NM_001715.3	NP_001706.2:p.(Ser24=)	NC_000008.10:g.11400805C>T	(Likely) benign	1 lab	204389dc8d
19:4090713 MAP2K2 G>C	19	4090713	4090713	G	C	MAP2K2	c.1093-7C>G	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4090713G>C	(Likely) benign	1 lab	4e2f429769
13:77742554 MYCBP2 G>A	13	77742554	77742554	G	A	MYCBP2	c.6114+9C>T	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77742554G>A	(Likely) benign	1 lab	4e3132de43
9:140040304 GRIN1 C>G	9	140040304	140040304	C	G	GRIN1	c.520C>G	NM_007327.4	NP_015566.1:p.(Arg174Gly)	NC_000009.11:g.140040304C>G	VUS	1 lab	4e31dd126c
16:3823848 CREBBP AGCGGGCGCCTGG>A	16	3823848	3823862	AGCGGGCGCCTGG	A	CREBBP	c.2355_2366del	NM_004380.3	NP_004371.2:p.(Ala787_Gln790del)	NC_000016.9:g.3823851_3823862del	(Likely) benign	1 lab	4e35d5c8ca
7:92732219 SAMD9 A>C	7	92732219	92732219	A	C	SAMD9	c.3192T>G	NM_017654.4	NP_060124.2:p.(Asn1064Lys)	NC_000007.13:g.92732219A>C	(Likely) benign	1 lab	4e35ee30de
8:94821188 TMEM67 T>G	8	94821188	94821188	T	G	TMEM67	c.2556+4T>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94821188T>G	(Likely) benign	1 lab	4e37893ea3
11:17483249 ABCC8 C>T	11	17483249	17483249	C	T	ABCC8	c.703G>A	NM_000352.6	NP_000343.2:p.(Ala235Thr)	NC_000011.9:g.17483249C>T	VUS	1 lab	4e38dc3900
19:12763167 MAN2B1 C>G	19	12763167	12763167	C	G	MAN2B1	c.1928+10G>C	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12763167C>G	(Likely) benign	1 lab	4e3985575c
2:47630542 MSH2 G>T	2	47630542	47630542	G	T	MSH2	c.211+1G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47630542G>T	(Likely) pathogenic	1 lab	4e3af7db20
X:54987342 PFKFB1 A>C	X	54987342	54987342	A	C	PFKFB1	c.232T>G	NM_002625.4	NP_002616.2:p.(Leu78Val)	NC_000023.10:g.54987342A>C	(Likely) benign	1 lab	4e3b0ac215
13:95228593 TGDS A>G	13	95228593	95228593	A	G	TGDS	c.957T>C	NM_014305.4	NP_055120.1:p.(Pro319=)	NC_000013.10:g.95228593A>G	(Likely) benign	1 lab	4e3e124a51
19:18899217 COMP A>C	19	18899217	18899217	A	C	COMP	c.867+2T>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899217A>C	(Likely) benign	1 lab	4e3f78079f
4:2833399 SH3BP2 A>T	4	2833399	2833399	A	T	SH3BP2	c.1343A>T	NM_001122681.2	NP_001116153.1:p.(Tyr448Phe)	NC_000004.11:g.2833399A>T	VUS	1 lab	4e3f8e3710
19:440929 SHC2 T>C	19	440929	440929	T	C	SHC2	c.472A>G	NM_012435.3	NP_036567.2:p.(Met158Val)	NC_000019.9:g.440929T>C	VUS	1 lab	4e3fc4e648
8:38271271 FGFR1 C>T	8	38271271	38271271	C	T	FGFR1	c.2344G>A	NM_023110.3	NP_075598.2:p.(Asp782Asn)	NC_000008.10:g.38271271C>T	(Likely) benign	1 lab	4e400832c5
17:38787151 SMARCE1 T>C	17	38787151	38787151	T	C	SMARCE1	c.842A>G	NM_003079.5	NP_003070.3:p.(Asp281Gly)	NC_000017.10:g.38787151T>C	(Likely) benign	1 lab	4e4041a012
X:153688719 PLXNA3 C>T	X	153688719	153688719	C	T	PLXNA3	c.196C>T	NM_017514.5	NP_059984.3:p.(His66Tyr)	NC_000023.10:g.153688719C>T	VUS	1 lab	4e40732237
2:73114641 SPR T>C	2	73114641	73114641	T	C	SPR	c.80T>C	NM_003124.5	NP_003115.1:p.(Leu27Pro)	NC_000002.11:g.73114641T>C	VUS	1 lab	4e4199bc93
18:60025458 TNFRSF11A GT>G	18	60025458	60025473	GT	G	TNFRSF11A	c.428-8del	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.60025473del	(Likely) benign	1 lab	1fa8025eab
3:180379773 CCDC39 C>T	3	180379773	180379773	C	T	CCDC39	c.233G>A	NM_181426.2	NP_852091.1:p.(Arg78His)	NC_000003.11:g.180379773C>T	(Likely) benign	1 lab	4e43933c4a
22:43023369 CYB5R3 G>A	22	43023369	43023369	G	A	CYB5R3	c.574C>T	NM_000398.7	NP_000389.1:p.(Arg192Cys)	NC_000022.10:g.43023369G>A	(Likely) pathogenic	1 lab	4e44c6a35f
13:25459502 CPAP A>G	13	25459502	25459502	A	G	CPAP	c.3389T>C	NM_018451.5	NP_060921.3:p.(Leu1130Pro)	NC_000013.10:g.25459502A>G	(Likely) benign	1 lab	4e455937a1
19:47575756 ZC3H4 G>A	19	47575756	47575756	G	A	ZC3H4	c.1655C>T	NM_015168.2	NP_055983.1:p.(Pro552Leu)	NC_000019.9:g.47575756G>A	VUS	1 lab	4e47e28a4f
6:29641045 ZFP57 G>A	6	29641045	29641045	G	A	ZFP57	c.843C>T	NM_001109809.5	NP_001103279.2:p.(His281=)	NC_000006.11:g.29641045G>A	(Likely) benign	1 lab	4e49ad5c4b
11:59562939 STX3 A>G	11	59562939	59562939	A	G	STX3	c.770A>G	NM_004177.5	NP_004168.1:p.(Gln257Arg)	NC_000011.9:g.59562939A>G	(Likely) benign	1 lab	4e4a03c20e
5:147820769 FBXO38 C>T	5	147820769	147820769	C	T	FBXO38	c.3132C>T	NM_030793.5	NP_110420.3:p.(Phe1044=)	NC_000005.9:g.147820769C>T	(Likely) benign	1 lab	2043c5fdab
20:43048355 HNF4A T>A	20	43048355	43048355	T	A	HNF4A	c.737-6T>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43048355T>A	(Likely) benign	1 lab	4e4b5c9f81
8:12878748 TRMT9B G>A	8	12878748	12878748	G	A	TRMT9B	c.560G>A	NM_020844.3	NP_065895.2:p.(Gly187Asp)	NC_000008.10:g.12878748G>A	VUS	1 lab	4e4bd8fabd
3:42729756 KLHL40 C>T	3	42729756	42729756	C	T	KLHL40	c.1275C>T	NM_152393.4	NP_689606.2:p.(Gly425=)	NC_000003.11:g.42729756C>T	VUS	1 lab	4e4be90f8d
16:70310924 AARS1 T>C	16	70310924	70310924	T	C	AARS1	c.278A>G	NM_001605.3	NP_001596.2:p.(Tyr93Cys)	NC_000016.9:g.70310924T>C	VUS	1 lab	4e4c78da33
8:117868463 RAD21 T>G	8	117868463	117868463	T	G	RAD21	c.879A>C	NM_006265.3	NP_006256.1:p.(Gln293His)	NC_000008.10:g.117868463T>G	(Likely) benign	1 lab	4e4d01fc03
2:166847542 SCN1A C>T	2	166847542	166847542	C	T	SCN1A	c.*213G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166847542C>T	(Likely) benign	1 lab	20459b6e41
16:22192909 SDR42E2 G>C	16	22192909	22192909	G	C	SDR42E2	c.742G>C	NM_001394319.2	NP_001381248.1:p.(Val248Leu)	NC_000016.9:g.22192909G>C	VUS	1 lab	4e50c7d06f
19:52249535 FPR1 C>T	19	52249535	52249535	C	T	FPR1	c.713G>A	NM_001193306.2	NP_001180235.1:p.(Arg238His)	NC_000019.9:g.52249535C>T	VUS	1 lab	1fa9b22329
16:88780980 CTU2 CCTCT>C	16	88780980	88780986	CCTCT	C	CTU2	c.1202-12_1202-9del	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88780983_88780986del	VUS	1 lab	4e5120b8c6
3:196434772 CEP19 C>T	3	196434772	196434772	C	T	CEP19	c.142G>A	NM_032898.5	NP_116287.3:p.(Ala48Thr)	NC_000003.11:g.196434772C>T	VUS	1 lab	4e51af3520
22:41545187 EP300 T>C	22	41545187	41545187	T	C	EP300	c.2379+8T>C	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41545187T>C	(Likely) benign	1 lab	4e529bd618
X:153590829 FLNA C>T	X	153590829	153590829	C	T	FLNA	c.2522G>A	NM_001110556.2	NP_001104026.1:p.(Arg841Gln)	NC_000023.10:g.153590829C>T	(Likely) benign	1 lab	4e5445052e
1:33236630 NHSL3 C>T	1	33236630	33236630	C	T	NHSL3	c.1850C>T	NM_020888.3	NP_065939.2:p.(Thr617Met)	NC_000001.10:g.33236630C>T	VUS	1 lab	4e558082c6
15:49034286 CEP152 G>A	15	49034286	49034286	G	A	CEP152	c.3847C>T	NM_001194998.2	NP_001181927.1:p.(Arg1283Cys)	NC_000015.9:g.49034286G>A	VUS	1 lab	4e55bdf55f
3:160155865 TRIM59 TAGAG>T	3	160155865	160155871	TAGAG	T	TRIM59	c.1103_1106del	NM_173084.3	NP_775107.1:p.(Ser368TyrfsTer14)	NC_000003.11:g.160155868_160155871del	(Likely) benign	1 lab	4e55e32e1d
8:144994904 PLEC C>T	8	144994904	144994904	C	T	PLEC	c.9085G>A	NM_201384.3	NP_958786.1:p.(Val3029Ile)	NC_000008.10:g.144994904C>T	VUS	1 lab	4e5657e6bf
6:152784643 SYNE1 G>GA	6	152784643	152784650	G	GA	SYNE1	c.1941dup	NM_182961.4	NP_892006.3:p.(Arg648SerfsTer22)	NC_000006.11:g.152784650dup	(Likely) pathogenic	1 lab	4e56a157fb
8:442472 TDRP G>A	8	442472	442472	G	A	TDRP	c.485C>T	NM_001384899.1	NP_001371828.1:p.(Ala162Val)	NC_000008.10:g.442472G>A	VUS	1 lab	4e5807c795
6:152551708 SYNE1 C>T	6	152551708	152551708	C	T	SYNE1	c.21169G>A	NM_182961.4	NP_892006.3:p.(Val7057Ile)	NC_000006.11:g.152551708C>T	VUS	1 lab	4e5b9667ea
14:24572857 PCK2 G>A	14	24572857	24572857	G	A	PCK2	c.1607G>A	NM_004563.4	NP_004554.3:p.(Arg536Gln)	NC_000014.8:g.24572857G>A	VUS	1 lab	1faa49ed38
19:13319625 CACNA1A T>C	19	13319625	13319625	T	C	CACNA1A	c.6725A>G	NM_001127222.2	NP_001120694.1:p.(Asp2242Gly)	NC_000019.9:g.13319625T>C	(Likely) benign	1 lab	4e5e0b1ee6
11:76928356 GDPD4 G>A	11	76928356	76928356	G	A	GDPD4	c.1529C>T	NM_182833.3	NP_878253.1:p.(Thr510Ile)	NC_000011.9:g.76928356G>A	(Likely) benign	1 lab	4e5e45bd2b
1:228613026 H3-4 T>C	1	228613026	228613026	T	C	H3-4	c.1A>G	NM_003493.3	NP_003484.1:p.(Met1?)	NC_000001.10:g.228613026T>C	VUS	1 lab	4e5e6ab7d3
12:49224461 DDX23 T>C	12	49224461	49224461	T	C	DDX23	c.2254A>G	NM_004818.3	NP_004809.2:p.(Ile752Val)	NC_000012.11:g.49224461T>C	(Likely) pathogenic	1 lab	4e5ecb79f0
15:42148796 SPTBN5 T>A	15	42148796	42148796	T	A	SPTBN5	c.8809A>T	NM_016642.4	NP_057726.4:p.(Asn2937Tyr)	NC_000015.9:g.42148796T>A	VUS	1 lab	4e60780c3c
5:153857562 HAND1 G>C	5	153857562	153857562	G	C	HAND1	c.7C>G	NM_004821.3	NP_004812.1:p.(Leu3Val)	NC_000005.9:g.153857562G>C	VUS	1 lab	1fb14e53df
1:20659385 VWA5B1 C>T	1	20659385	20659385	C	T	VWA5B1	c.1699C>T	NM_001039500.3	NP_001034589.2:p.(Arg567Trp)	NC_000001.10:g.20659385C>T	VUS	1 lab	4e60e706f6
8:97345788 PTDSS1 G>GA	8	97345788	97345791	G	GA	PTDSS1	c.1419dup	NM_014754.3	NP_055569.1:p.(Ter474MetextTer5)	NC_000008.10:g.97345791dup	VUS	1 lab	4e6524afb5
2:179416903 TTN C>A	2	179416903	179416903	C	A	TTN	c.90724G>T	NM_001267550.2	NP_001254479.2:p.(Val30242Phe)	NC_000002.11:g.179416903C>A	VUS	1 lab	4e6550f692
3:196749847 MELTF C>A	3	196749847	196749847	C	A	MELTF	c.625G>T	NM_005929.6	NP_005920.2:p.(Asp209Tyr)	NC_000003.11:g.196749847C>A	VUS	1 lab	4e65a21acc
4:6302928 WFS1 C>T	4	6302928	6302928	C	T	WFS1	c.1406C>T	NM_006005.3	NP_005996.2:p.(Ser469Leu)	NC_000004.11:g.6302928C>T	VUS	1 lab	4e65e3b0a0
X:135333478 MAP7D3 GGCTGCCGCCA>AGAGACG	X	135333478	135333488	GGCTGCCGCCA	AGAGACG	MAP7D3	c.30_40delinsCGTCTCT	NM_024597.4	NP_078873.2:p.(Gly11ValfsTer5)	NC_000023.10:g.135333478_135333488delinsAGAGACG	VUS	1 lab	4e677803dd
5:37158331 CPLANE1 T>A	5	37158331	37158331	T	A	CPLANE1	c.7807A>T	NM_001384732.1	NP_001371661.1:p.(Asn2603Tyr)	NC_000005.9:g.37158331T>A	(Likely) benign	1 lab	4e6b36a3d6
2:220355654 SPEG C>T	2	220355654	220355654	C	T	SPEG	c.9361C>T	NM_005876.5	NP_005867.3:p.(Arg3121Cys)	NC_000002.11:g.220355654C>T	(Likely) benign	1 lab	4e6bd6dd5f
1:7723934 CAMTA1 G>A	1	7723934	7723934	G	A	CAMTA1	c.1327G>A	NM_015215.4	NP_056030.1:p.(Ala443Thr)	NC_000001.10:g.7723934G>A	(Likely) benign	1 lab	4e6bfde0bb
1:7797354 CAMTA1 G>A	1	7797354	7797354	G	A	CAMTA1	c.3382G>A	NM_015215.4	NP_056030.1:p.(Val1128Met)	NC_000001.10:g.7797354G>A	VUS	1 lab	4e6caa6bc2
8:11607742 GATA4 C>T	8	11607742	11607742	C	T	GATA4	c.909C>T	NM_001308093.3	NP_001295022.1:p.(His303=)	NC_000008.10:g.11607742C>T	(Likely) benign	1 lab	4e6d35e928
2:99778712 LIPT1 C>G	2	99778712	99778712	C	G	LIPT1	c.292C>G	NM_145199.3	NP_660200.1:p.(Arg98Gly)	NC_000002.11:g.99778712C>G	VUS	1 lab	4e6e563e0c
15:101569162 LRRK1 C>A	15	101569162	101569162	C	A	LRRK1	c.2688C>A	NM_024652.6	NP_078928.3:p.(Ala896=)	NC_000015.9:g.101569162C>A	(Likely) benign	1 lab	4e6e9a3b7f
12:112924453 PTPN11 C>T	12	112924453	112924453	C	T	PTPN11	c.1379+20C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112924453C>T	(Likely) benign	1 lab	4e746fdb7f
17:61505903 MISSING C>T	17	61505903	61505903	C	T	MISSING				NC_000017.10:g.61505903C>T	(Likely) benign	1 lab	abf08a8cf5
15:89390479 ACAN G>A	15	89390479	89390479	G	A	ACAN	c.1435G>A	NM_001369268.1	NP_001356197.1:p.(Val479Ile)	NC_000015.9:g.89390479G>A	VUS	1 lab	4e75d0ca1a
1:173795898 DARS2 CT>C	1	173795898	173795900	CT	C	DARS2	c.203del	NM_018122.5	NP_060592.2:p.(Leu68CysfsTer16)	NC_000001.10:g.173795900del	(Likely) pathogenic	1 lab	4e76bb6e45
11:5248402 BGLT3 G>A	11	5248402	5248402	G	A	BGLT3				NC_000011.9:g.5248402G>A	(Likely) pathogenic	1 lab	4e77cc0e55
4:175414327 HPGD T>C	4	175414327	175414327	T	C	HPGD	c.637A>G	NM_000860.6	NP_000851.2:p.(Met213Val)	NC_000004.11:g.175414327T>C	VUS	1 lab	4e789b6c7a
4:113568388 LARP7 G>A	4	113568388	113568388	G	A	LARP7	c.701G>A	NM_001267039.2	NP_001253968.1:p.(Arg234Gln)	NC_000004.11:g.113568388G>A	VUS	1 lab	1fac671da6
2:191844486 STAT1 G>A	2	191844486	191844486	G	A	STAT1	c.1727+12C>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191844486G>A	(Likely) benign	1 lab	20478ea934
1:2411245 PLCH2 G>A	1	2411245	2411245	G	A	PLCH2	c.344G>A	NM_014638.4	NP_055453.2:p.(Ser115Asn)	NC_000001.10:g.2411245G>A	(Likely) benign	1 lab	4e7bf3f8bd
8:20077908 ATP6V1B2 C>T	8	20077908	20077908	C	T	ATP6V1B2	c.1531C>T	NM_001693.4	NP_001684.2:p.(His511Tyr)	NC_000008.10:g.20077908C>T	VUS	1 lab	4e7c6d9eca
15:38643730 SPRED1 C>G	15	38643730	38643730	C	G	SPRED1	c.1200C>G	NM_152594.3	NP_689807.1:p.(Phe400Leu)	NC_000015.9:g.38643730C>G	(Likely) benign	1 lab	4e7d6aaab8
8:22054310 BMP1 G>A	8	22054310	22054310	G	A	BMP1	c.1883G>A	NM_006129.5	NP_006120.1:p.(Arg628His)	NC_000008.10:g.22054310G>A	(Likely) benign	1 lab	4e7e76b49e
19:36212201 KMT2B A>G	19	36212201	36212201	A	G	KMT2B	c.1952A>G	NM_014727.3	NP_055542.1:p.(Gln651Arg)	NC_000019.9:g.36212201A>G	(Likely) benign	1 lab	4e80b477bd
19:54312990 NLRP12 A>C	19	54312990	54312990	A	C	NLRP12	c.1923T>G	NM_144687.4	NP_653288.1:p.(Ile641Met)	NC_000019.9:g.54312990A>C	VUS	1 lab	4e8171a73b
3:39228666 XIRP1 G>C	3	39228666	39228666	G	C	XIRP1	c.2271C>G	NM_194293.4	NP_919269.2:p.(Ser757Arg)	NC_000003.11:g.39228666G>C	(Likely) benign	1 lab	4e8171b432
19:51207450 SHANK1 G>A	19	51207450	51207450	G	A	SHANK1	c.1156-7C>T	NM_016148.5	NP_057232.2:p.?	NC_000019.9:g.51207450G>A	(Likely) benign	1 lab	4e81a660c6
5:126746145 MEGF10 A>C	5	126746145	126746145	A	C	MEGF10	c.982A>C	NM_001256545.2	NP_001243474.1:p.(Asn328His)	NC_000005.9:g.126746145A>C	VUS	1 lab	4e83086876
2:160229619 BAZ2B G>A	2	160229619	160229619	G	A	BAZ2B	c.4150C>T	NM_013450.4	NP_038478.2:p.(Arg1384Cys)	NC_000002.11:g.160229619G>A	VUS	1 lab	4e830f6016
10:1149629 WDR37 G>A	10	1149629	1149629	G	A	WDR37	c.814G>A	NM_014023.4	NP_054742.2:p.(Val272Ile)	NC_000010.10:g.1149629G>A	(Likely) benign	1 lab	4e8321258a
21:27425580 APP T>C	21	27425580	27425580	T	C	APP	c.440A>G	NM_000484.4	NP_000475.1:p.(His147Arg)	NC_000021.8:g.27425580T>C	VUS	1 lab	4e84bf4dcc
X:70361738 MED12 G>C	X	70361738	70361738	G	C	MED12	c.6414G>C	NM_005120.3	NP_005111.2:p.(Gln2138His)	NC_000023.10:g.70361738G>C	VUS	1 lab	4e85d6be2a
3:135870402 MSL2 G>C	3	135870402	135870402	G	C	MSL2	c.1321C>G	NM_018133.4	NP_060603.2:p.(His441Asp)	NC_000003.11:g.135870402G>C	(Likely) benign	1 lab	4e86518816
18:72346431 ZNF407 TGAA>T	18	72346431	72346440	TGAA	T	ZNF407	c.3463_3465del	NM_017757.3	NP_060227.2:p.(Glu1155del)	NC_000018.9:g.72346438_72346440del	VUS	1 lab	4e87287923
1:201029941 CACNA1S G>A	1	201029941	201029941	G	A	CACNA1S	c.3259C>T	NM_000069.3	NP_000060.2:p.(Gln1087Ter)	NC_000001.10:g.201029941G>A	VUS	1 lab	4e87cfd1b6
8:27634348 ESCO2 A>G	8	27634348	27634348	A	G	ESCO2	c.523A>G	NM_001017420.3	NP_001017420.1:p.(Ile175Val)	NC_000008.10:g.27634348A>G	(Likely) benign	1 lab	4e88f9a2b3
17:78039309 CCDC40 G>T	17	78039309	78039309	G	T	CCDC40	c.1466G>T	NM_017950.4	NP_060420.2:p.(Ser489Ile)	NC_000017.10:g.78039309G>T	(Likely) benign	1 lab	4e895423bc
9:109690667 ZNF462 A>C	9	109690667	109690667	A	C	ZNF462	c.4474A>C	NM_021224.6	NP_067047.4:p.(Lys1492Gln)	NC_000009.11:g.109690667A>C	VUS	1 lab	4e8a3352cb
1:169524537 F5 C>G	1	169524537	169524537	C	G	F5	c.1001G>C	NM_000130.5	NP_000121.2:p.(Arg334Thr)	NC_000001.10:g.169524537C>G	VUS	1 lab	4e8b316d00
2:152550877 NEB T>C	2	152550877	152550877	T	C	NEB	c.1856A>G	NM_001164508.2	NP_001157980.2:p.(Lys619Arg)	NC_000002.11:g.152550877T>C	(Likely) benign	1 lab	4e8bba61a0
10:81317045 SFTPA2 G>T	10	81317045	81317045	G	T	SFTPA2	c.667C>A	NM_001098668.4	NP_001092138.1:p.(Gln223Lys)	NC_000010.10:g.81317045G>T	(Likely) benign	1 lab	1faf07bbc3
6:12162101 HIVEP1 A>G	6	12162101	12162101	A	G	HIVEP1	c.6917A>G	NM_002114.4	NP_002105.3:p.(Tyr2306Cys)	NC_000006.11:g.12162101A>G	(Likely) benign	1 lab	4e8e663ea3
17:48432423 XYLT2 G>A	17	48432423	48432423	G	A	XYLT2	c.1007+6G>A	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48432423G>A	VUS	1 lab	4e8f6ebace
21:47817952 PCNT G>T	21	47817952	47817952	G	T	PCNT	c.4471G>T	NM_006031.6	NP_006022.3:p.(Glu1491Ter)	NC_000021.8:g.47817952G>T	VUS	1 lab	4e9257bb58
7:151859705 KMT2C G>A	7	151859705	151859705	G	A	KMT2C	c.10957C>T	NM_170606.3	NP_733751.2:p.(Pro3653Ser)	NC_000007.13:g.151859705G>A	(Likely) benign	1 lab	4e92fa23aa
10:129923833 MKI67 G>T	10	129923833	129923833	G	T	MKI67	c.92+7C>A	NM_002417.5	NP_002408.3:p.?	NC_000010.10:g.129923833G>T	(Likely) benign	1 lab	4e930b41d8
X:14863231 FANCB G>T	X	14863231	14863231	G	T	FANCB	c.1674C>A	NM_001018113.3	NP_001018123.1:p.(Ser558Arg)	NC_000023.10:g.14863231G>T	(Likely) benign	1 lab	4e93d1229d
2:179442489 TTN C>T	2	179442489	179442489	C	T	TTN	c.41844G>A	NM_133432.3	NP_597676.3:p.(Trp13948Ter)	NC_000002.11:g.179442489C>T	(Likely) pathogenic	1 lab	204bab0f74
X:140994122 MAGEC1 C>CCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTGTGAGCCCCTCCTT	X	140994122	140994171	C	CCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTGTGAGCCCCTCCTT	MAGEC1	c.980_981insGAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA	NM_005462.5	NP_005453.2:p.(Thr326_His327insGlnSerThrPheGluGlyPheProGlnSerLeuLeuGlnIleProValSerProSerPheSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThr)	NC_000023.10:g.140994170_140994171insGAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA	VUS	1 lab	4e94876774
2:152499355 NEB T>C	2	152499355	152499355	T	C	NEB	c.8189A>G	NM_001164508.2	NP_001157980.2:p.(Asp2730Gly)	NC_000002.11:g.152499355T>C	(Likely) benign	1 lab	4e96fd1ed0
2:179621171 TTN G>C	2	179621171	179621171	G	C	TTN	c.11032C>G	NM_001267550.2	NP_001254479.2:p.(Gln3678Glu)	NC_000002.11:g.179621171G>C	(Likely) benign	1 lab	4e974d9bce
2:179434186 TTN T>A	2	179434186	179434186	T	A	TTN	c.76673A>T	NM_001267550.2	NP_001254479.2:p.(Asp25558Val)	NC_000002.11:g.179434186T>A	VUS	1 lab	4e977bffd8
2:27670719 IFT172 T>C	2	27670719	27670719	T	C	IFT172	c.4499A>G	NM_015662.3	NP_056477.1:p.(Tyr1500Cys)	NC_000002.11:g.27670719T>C	VUS	1 lab	4e991be6d1
12:106857391 POLR3B GC>G	12	106857391	106857392	GC	G	POLR3B	c.2707del	NM_018082.6	NP_060552.4:p.(Gln903LysfsTer7)	NC_000012.11:g.106857392del	(Likely) pathogenic	1 lab	4e9a70f06d
7:139208786 CLEC2L C>A	7	139208786	139208786	C	A	CLEC2L	c.113C>A	NM_001080511.4	NP_001073980.2:p.(Ala38Asp)	NC_000007.13:g.139208786C>A	(Likely) benign	1 lab	4e9bb908c2
9:119449030 ASTN2 T>C	9	119449030	119449030	T	C	ASTN2	c.2807-34958A>G	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119449030T>C	(Likely) benign	1 lab	4e9c3cc0c8
15:86791080 AGBL1 G>C	15	86791080	86791080	G	C	AGBL1	c.705G>C	NM_001386094.1	NP_001373023.1:p.(Gln235His)	NC_000015.9:g.86791080G>C	(Likely) benign	1 lab	4e9c42307f
11:17409337 KCNJ11 G>T	11	17409337	17409337	G	T	KCNJ11	c.302C>A	NM_000525.4	NP_000516.3:p.(Ala101Asp)	NC_000011.9:g.17409337G>T	VUS	1 lab	4e9cc48c30
1:39818851 MACF1 T>G	1	39818851	39818851	T	G	MACF1	c.11372T>G	NM_001394062.1	NP_001380991.1:p.(Met3791Arg)	NC_000001.10:g.39818851T>G	VUS	1 lab	4e9d08287c
X:153588192 FLNA C>T	X	153588192	153588192	C	T	FLNA	c.3887G>A	NM_001110556.2	NP_001104026.1:p.(Arg1296His)	NC_000023.10:g.153588192C>T	(Likely) benign	1 lab	4e9d0b1f6c
19:7132293 INSR A>G	19	7132293	7132293	A	G	INSR	c.2718T>C	NM_000208.4	NP_000199.2:p.(Ala906=)	NC_000019.9:g.7132293A>G	(Likely) benign	1 lab	4e9dfa3721
14:50626319 SOS2 T>G	14	50626319	50626319	T	G	SOS2	c.1682A>C	NM_006939.4	NP_008870.2:p.(Asn561Thr)	NC_000014.8:g.50626319T>G	VUS	1 lab	4f2b068115
3:49759382 GMPPB CAG>C	3	49759382	49759384	CAG	C	GMPPB	c.951+14_951+15del	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49759383_49759384del	(Likely) benign	1 lab	4e9ea98797
6:55198705 GFRAL G>A	6	55198705	55198705	G	A	GFRAL	c.279G>A	NM_207410.2	NP_997293.2:p.(Val93=)	NC_000006.11:g.55198705G>A	VUS	1 lab	4e9f406e25
6:56394463 DST C>T	6	56394463	56394463	C	T	DST	c.17378G>A	NM_001374736.1	NP_001361665.1:p.(Ser5793Asn)	NC_000006.11:g.56394463C>T	(Likely) benign	1 lab	4e9f6a7d3e
11:85725937 PICALM C>T	11	85725937	85725937	C	T	PICALM	c.522G>A	NM_007166.4	NP_009097.2:p.(Gln174=)	NC_000011.9:g.85725937C>T	(Likely) benign	1 lab	1fb3efc859
2:179396989 TTN C>G	2	179396989	179396989	C	G	TTN	c.104353G>C	NM_001267550.2	NP_001254479.2:p.(Glu34785Gln)	NC_000002.11:g.179396989C>G	VUS	1 lab	4ea0c48897
X:136113099 GPR101 C>T	X	136113099	136113099	C	T	GPR101	c.735G>A	NM_054021.2	NP_473362.1:p.(Glu245=)	NC_000023.10:g.136113099C>T	(Likely) benign	1 lab	4ea230b66b
11:26559023 ANO3 C>T	11	26559023	26559023	C	T	ANO3	c.1032+15C>T	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26559023C>T	(Likely) benign	1 lab	1fb417916e
8:21981218 HR C>T	8	21981218	21981218	C	T	HR	c.1859G>A	NM_005144.5	NP_005135.2:p.(Arg620Gln)	NC_000008.10:g.21981218C>T	(Likely) benign	1 lab	4ea46ae481
12:121435289 HNF1A C>A	12	121435289	121435289	C	A	HNF1A	c.1322C>A	NM_000545.8	NP_000536.6:p.(Thr441Lys)	NC_000012.11:g.121435289C>A	VUS	1 lab	4ea49ef12c
20:3208479 SLC4A11 A>G	20	3208479	3208479	A	G	SLC4A11	c.2582T>C	NM_001174089.2	NP_001167560.1:p.(Ile861Thr)	NC_000020.10:g.3208479A>G	VUS	1 lab	4ea4b856cd
X:102005042 GPRASP3 G>C	X	102005042	102005042	G	C	GPRASP3	c.1119G>C	NM_001142524.2	NP_001135996.1:p.(Leu373Phe)	NC_000023.10:g.102005042G>C	VUS	1 lab	4ea4d144bc
7:44187252 GCK T>A	7	44187252	44187252	T	A	GCK	c.860A>T	NM_000162.5	NP_000153.1:p.(Gln287Leu)	NC_000007.13:g.44187252T>A	(Likely) pathogenic	1 lab	4ea539de77
20:62595032 ZNF512B C>T	20	62595032	62595032	C	T	ZNF512B	c.1637G>A	NM_020713.3	NP_065764.1:p.(Arg546Gln)	NC_000020.10:g.62595032C>T	VUS	1 lab	4ea572eb0a
1:16255248 SPEN C>T	1	16255248	16255248	C	T	SPEN	c.2513C>T	NM_015001.3	NP_055816.2:p.(Thr838Met)	NC_000001.10:g.16255248C>T	VUS	1 lab	4ea5de6f31
3:47678100 SMARCC1 G>A	3	47678100	47678100	G	A	SMARCC1	c.2377-474C>T	NM_003074.4	NP_003065.3:p.?	NC_000003.11:g.47678100G>A	(Likely) benign	1 lab	4ea60bf050
21:43321810 C2CD2 C>T	21	43321810	43321810	C	T	C2CD2	c.1481G>A	NM_015500.2	NP_056315.1:p.(Arg494Gln)	NC_000021.8:g.43321810C>T	(Likely) benign	1 lab	4ea61d4d1d
8:100711753 VPS13B C>T	8	100711753	100711753	C	T	VPS13B	c.6047C>T	NM_152564.5	NP_689777.3:p.(Ala2016Val)	NC_000008.10:g.100711753C>T	VUS	1 lab	4ea629f1df
20:49224962 RIPOR3 A>C	20	49224962	49224962	A	C	RIPOR3	c.920T>G	NM_001290268.2	NP_001277197.1:p.(Leu307Trp)	NC_000020.10:g.49224962A>C	VUS	1 lab	4ea6867805
16:17228418 XYLT1 C>T	16	17228418	17228418	C	T	XYLT1	c.1939G>A	NM_022166.4	NP_071449.1:p.(Val647Met)	NC_000016.9:g.17228418C>T	VUS	1 lab	4ea78acddd
12:121432117 HNF1A GC>G	12	121432117	121432125	GC	G	HNF1A	c.872del	NM_000545.8	NP_000536.6:p.(Pro291GlnfsTer51)	NC_000012.11:g.121432125del	(Likely) pathogenic	1 lab	4ea967fa1c
17:62019134 SCN4A T>C	17	62019134	62019134	T	C	SCN4A	c.4508A>G	NM_000334.4	NP_000325.4:p.(Asn1503Ser)	NC_000017.10:g.62019134T>C	VUS	1 lab	4ea9ee78d1
16:89211591 ACSF3 C>CGGCCAGTTAACCAGAGCCCCTTTTCCTCAGGGGACACCGTGGTGTTTAAGGAT	16	89211591	89211704	C	CGGCCAGTTAACCAGAGCCCCTTTTCCTCAGGGGACACCGTGGTGTTTAAGGAT	ACSF3	c.1367-23_1396dup	NM_001243279.3	NP_001230208.1:p.?	NC_000016.9:g.89211652_89211704dup	VUS	1 lab	4eab22c408
13:29233328 POMP A>C	13	29233328	29233328	A	C	POMP	c.3+4A>C	NM_015932.6	NP_057016.1:p.?	NC_000013.10:g.29233328A>C	(Likely) benign	1 lab	4eabd67916
14:69356918 ACTN1 C>T	14	69356918	69356918	C	T	ACTN1	c.1172G>A	NM_001130004.2	NP_001123476.1:p.(Arg391Gln)	NC_000014.8:g.69356918C>T	VUS	1 lab	4eaec29e7c
1:228495173 OBSCN C>T	1	228495173	228495173	C	T	OBSCN	c.15278C>T	NM_001386125.1	NP_001373054.1:p.(Thr5093Met)	NC_000001.10:g.228495173C>T	VUS	1 lab	4eaf62d6e6
16:72992087 ZFHX3 C>T	16	72992087	72992087	C	T	ZFHX3	c.1958G>A	NM_006885.4	NP_008816.3:p.(Arg653His)	NC_000016.9:g.72992087C>T	(Likely) benign	1 lab	4eb128f8f4
1:8561890 RERE G>C	1	8561890	8561890	G	C	RERE	c.880-4301C>G	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8561890G>C	(Likely) benign	1 lab	4eb371d2aa
17:7681747 DNAH2 A>G	17	7681747	7681747	A	G	DNAH2	c.5501A>G	NM_020877.5	NP_065928.2:p.(Asp1834Gly)	NC_000017.10:g.7681747A>G	VUS	1 lab	4eb4ed7c67
X:150909342 CNGA2 G>A	X	150909342	150909342	G	A	CNGA2	c.451G>A	NM_005140.3	NP_005131.1:p.(Val151Ile)	NC_000023.10:g.150909342G>A	(Likely) benign	1 lab	4eb51e3177
7:151860675 KMT2C C>T	7	151860675	151860675	C	T	KMT2C	c.9987G>A	NM_170606.3	NP_733751.2:p.(Met3329Ile)	NC_000007.13:g.151860675C>T	(Likely) benign	1 lab	4eb575ec87
8:27634493 ESCO2 C>G	8	27634493	27634493	C	G	ESCO2	c.668C>G	NM_001017420.3	NP_001017420.1:p.(Ser223Cys)	NC_000008.10:g.27634493C>G	VUS	1 lab	4eb73ee3b0
5:149771218 TCOF1 G>C	5	149771218	149771218	G	C	TCOF1	c.3295G>C	NM_001371623.1	NP_001358552.1:p.(Gly1099Arg)	NC_000005.9:g.149771218G>C	(Likely) benign	1 lab	4eb7eacdfc
2:128184694 PROC A>C	2	128184694	128184694	A	C	PROC	c.692A>C	NM_000312.4	NP_000303.1:p.(Asp231Ala)	NC_000002.11:g.128184694A>C	VUS	1 lab	4ebac680b7
13:31803441 B3GLCT G>A	13	31803441	31803441	G	A	B3GLCT	c.270+10G>A	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31803441G>A	(Likely) benign	1 lab	4ebb71bbac
12:416726 KDM5A T>A	12	416726	416726	T	A	KDM5A	c.3824A>T	NM_001042603.3	NP_001036068.1:p.(Lys1275Ile)	NC_000012.11:g.416726T>A	VUS	1 lab	4ebcdd1d9e
X:41000546 USP9X A>G	X	41000546	41000546	A	G	USP9X	c.1023A>G	NM_001039591.3	NP_001034680.2:p.(Arg341=)	NC_000023.10:g.41000546A>G	VUS	1 lab	4ebdaccb00
20:61457586 COL9A3 C>A	20	61457586	61457586	C	A	COL9A3	c.715C>A	NM_001853.4	NP_001844.3:p.(Pro239Thr)	NC_000020.10:g.61457586C>A	VUS	1 lab	4ebdb4ba80
X:135427775 ADGRG4 G>A	X	135427775	135427775	G	A	ADGRG4	c.1910G>A	NM_153834.4	NP_722576.3:p.(Gly637Asp)	NC_000023.10:g.135427775G>A	VUS	1 lab	4ebe468de4
17:16029478 NCOR1 CTTT>C	17	16029478	16029483	CTTT	C	NCOR1	c.1549_1551del	NM_006311.4	NP_006302.2:p.(Lys517del)	NC_000017.10:g.16029481_16029483del	VUS	1 lab	4ebe5e1ec9
2:175612906 CHRNA1 G>A	2	175612906	175612906	G	A	CHRNA1	c.1320C>T	NM_000079.4	NP_000070.1:p.(Ile440=)	NC_000002.11:g.175612906G>A	(Likely) benign	1 lab	4ec06bcd05
15:42174271 SPTBN5 C>G	15	42174271	42174271	C	G	SPTBN5	c.2320G>C	NM_016642.4	NP_057726.4:p.(Gly774Arg)	NC_000015.9:g.42174271C>G	(Likely) benign	1 lab	4ec07899d4
12:936468 WNK1 C>G	12	936468	936468	C	G	WNK1	c.1153+40C>G	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.936468C>G	(Likely) benign	1 lab	1fb5b9e944
4:619708 PDE6B G>A	4	619708	619708	G	A	PDE6B	c.293G>A	NM_000283.4	NP_000274.3:p.(Arg98His)	NC_000004.11:g.619708G>A	VUS	1 lab	4ec382eb31
9:113459675 MUSK G>C	9	113459675	113459675	G	C	MUSK	c.557G>C	NM_005592.4	NP_005583.1:p.(Gly186Ala)	NC_000009.11:g.113459675G>C	VUS	1 lab	4ec39ad7ef
11:2192973 TH C>T	11	2192973	2192973	C	T	TH	c.44G>A	NM_000360.4	NP_000351.2:p.(Arg15His)	NC_000011.9:g.2192973C>T	VUS	1 lab	4ec40dfe50
16:70292939 AARS1 T>C	16	70292939	70292939	T	C	AARS1	c.1936A>G	NM_001605.3	NP_001596.2:p.(Thr646Ala)	NC_000016.9:g.70292939T>C	(Likely) benign	1 lab	4ec52a505e
17:33482364 UNC45B T>C	17	33482364	33482364	T	C	UNC45B	c.689T>C	NM_001267052.2	NP_001253981.1:p.(Met230Thr)	NC_000017.10:g.33482364T>C	VUS	1 lab	4ec6a845da
1:201022323 CACNA1S C>A	1	201022323	201022323	C	A	CACNA1S	c.3861+14G>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201022323C>A	(Likely) benign	1 lab	4ec757201e
12:56733229 IL23A A>G	12	56733229	56733229	A	G	IL23A	c.182A>G	NM_016584.3	NP_057668.1:p.(Asp61Gly)	NC_000012.11:g.56733229A>G	(Likely) benign	1 lab	4ec83488e5
4:128814763 PLK4 A>C	4	128814763	128814763	A	C	PLK4	c.2414+4A>C	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128814763A>C	(Likely) benign	1 lab	4ec9992fc1
22:41523536 EP300 C>G	22	41523536	41523536	C	G	EP300	c.952C>G	NM_001429.4	NP_001420.2:p.(Pro318Ala)	NC_000022.10:g.41523536C>G	(Likely) benign	1 lab	4eca4d0053
17:30293149 SUZ12 C>CTT	17	30293149	30293163	C	CTT	SUZ12	c.456-4_456-3dup	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30293162_30293163dup	(Likely) benign	1 lab	4ecb13f9ed
X:21613456 CNKSR2 G>C	X	21613456	21613456	G	C	CNKSR2	c.1919G>C	NM_014927.5	NP_055742.2:p.(Cys640Ser)	NC_000023.10:g.21613456G>C	(Likely) benign	1 lab	4ecc75ebc5
7:155596307 SHH C>T	7	155596307	155596307	C	T	SHH	c.676G>A	NM_000193.4	NP_000184.1:p.(Ala226Thr)	NC_000007.13:g.155596307C>T	(Likely) benign	1 lab	4ece0b7eab
15:76584824 ETFA T>C	15	76584824	76584824	T	C	ETFA	c.299A>G	NM_000126.4	NP_000117.1:p.(Gln100Arg)	NC_000015.9:g.76584824T>C	VUS	1 lab	4ed02ac200
19:15302772 NOTCH3 A>G	19	15302772	15302772	A	G	NOTCH3	c.678T>C	NM_000435.3	NP_000426.2:p.(Pro226=)	NC_000019.9:g.15302772A>G	(Likely) benign	1 lab	4ed11d20a1
14:103433374 CDC42BPB C>T	14	103433374	103433374	C	T	CDC42BPB	c.2471+9G>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103433374C>T	(Likely) benign	1 lab	4ed23f5931
17:78064076 CCDC40 G>GA	17	78064076	78064078	G	GA	CCDC40	c.2832+395dup	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064078dup	VUS	1 lab	4ed353f450
19:48946107 GRIN2D T>G	19	48946107	48946107	T	G	GRIN2D	c.2924T>G	NM_000836.4	NP_000827.2:p.(Leu975Arg)	NC_000019.9:g.48946107T>G	VUS	1 lab	4ed3b04883
1:11855333 MTHFR C>T	1	11855333	11855333	C	T	MTHFR	c.853G>A	NM_005957.5	NP_005948.3:p.(Glu285Lys)	NC_000001.10:g.11855333C>T	VUS	1 lab	4ed3df4b5d
10:75871724 VCL G>A	10	75871724	75871724	G	A	VCL	c.2803G>A	NM_014000.3	NP_054706.1:p.(Asp935Asn)	NC_000010.10:g.75871724G>A	VUS	1 lab	1fb9e2725b
19:49657765 HRC C>T	19	49657765	49657765	C	T	HRC	c.730G>A	NM_002152.3	NP_002143.1:p.(Glu244Lys)	NC_000019.9:g.49657765C>T	VUS	1 lab	4ed57aa1db
22:42611174 TCF20 G>A	22	42611174	42611174	G	A	TCF20	c.138C>T	NM_001378418.1	NP_001365347.1:p.(Gly46=)	NC_000022.10:g.42611174G>A	(Likely) benign	1 lab	4ed60998f9
11:108172375 ATM T>C	11	108172375	108172375	T	C	ATM	c.5178T>C	NM_000051.4	NP_000042.3:p.(Cys1726=)	NC_000011.9:g.108172375T>C	VUS	1 lab	4ed6c34e1c
12:49312251 DRC2 T>C	12	49312251	49312251	T	C	DRC2	c.803T>C	NM_033124.5	NP_149115.2:p.(Leu268Pro)	NC_000012.11:g.49312251T>C	VUS	1 lab	4ed73d837a
20:44577991 ZNF335 G>T	20	44577991	44577991	G	T	ZNF335	c.3800C>A	NM_022095.4	NP_071378.1:p.(Pro1267Gln)	NC_000020.10:g.44577991G>T	(Likely) benign	1 lab	4ed871621d
11:3039844 CARS1 G>A	11	3039844	3039844	G	A	CARS1	c.1525+6C>T	NM_001014437.3	NP_001014437.1:p.?	NC_000011.9:g.3039844G>A	(Likely) benign	1 lab	4edbbb759e
12:22069933 ABCC9 C>T	12	22069933	22069933	C	T	ABCC9	c.511G>A	NM_020297.4	NP_064693.2:p.(Gly171Ser)	NC_000012.11:g.22069933C>T	VUS	1 lab	4edc4dc83c
6:41126718 TREM2 G>A	6	41126718	41126718	G	A	TREM2	c.569C>T	NM_018965.4	NP_061838.1:p.(Ala190Val)	NC_000006.11:g.41126718G>A	(Likely) benign	1 lab	4edcf2351b
18:31323758 ASXL3 A>G	18	31323758	31323758	A	G	ASXL3	c.3946A>G	NM_030632.3	NP_085135.1:p.(Ser1316Gly)	NC_000018.9:g.31323758A>G	VUS	1 lab	4ede64b020
9:101980410 ALG2 TGG>T	9	101980410	101980412	TGG	T	ALG2	c.1055_1056del	NM_033087.4	NP_149078.1:p.(Ser352TyrfsTer2)	NC_000009.11:g.101980411_101980412del	VUS	1 lab	4edea74783
16:86601470 FOXC2 A>G	16	86601470	86601470	A	G	FOXC2	c.529A>G	NM_005251.3	NP_005242.1:p.(Lys177Glu)	NC_000016.9:g.86601470A>G	(Likely) benign	1 lab	4edf810604
20:60887962 LAMA5 CAG>C	20	60887962	60887964	CAG	C	LAMA5	c.9058_9059del	NM_005560.6	NP_005551.3:p.(Leu3020AspfsTer36)	NC_000020.10:g.60887963_60887964del	VUS	1 lab	4ee0d46d7d
16:20787306 ACSM3 G>A	16	20787306	20787306	G	A	ACSM3	c.365G>A	NM_005622.4	NP_005613.2:p.(Arg122Gln)	NC_000016.9:g.20787306G>A	VUS	1 lab	4ee2306fdd
5:149357514 SLC26A2 C>G	5	149357514	149357514	C	G	SLC26A2	c.299C>G	NM_000112.4	NP_000103.2:p.(Pro100Arg)	NC_000005.9:g.149357514C>G	VUS	1 lab	4ee3e8c83a
X:120009295 CT47B1 T>C	X	120009295	120009295	T	C	CT47B1	c.230A>G	NM_001145718.3	NP_001139190.1:p.(Gln77Arg)	NC_000023.10:g.120009295T>C	VUS	1 lab	4ee51cf268
22:19188971 CLTCL1 C>T	22	19188971	19188971	C	T	CLTCL1	c.3634G>A	NM_007098.4	NP_009029.3:p.(Glu1212Lys)	NC_000022.10:g.19188971C>T	VUS	1 lab	4ee62537d8
14:69356932 ACTN1 G>T	14	69356932	69356932	G	T	ACTN1	c.1158C>A	NM_001130004.2	NP_001123476.1:p.(Ile386=)	NC_000014.8:g.69356932G>T	(Likely) benign	1 lab	4ee73e0bda
5:154287346 GEMIN5 G>A	5	154287346	154287346	G	A	GEMIN5	c.2200C>T	NM_015465.5	NP_056280.2:p.(Leu734Phe)	NC_000005.9:g.154287346G>A	VUS	1 lab	4ee880e20d
16:2153465 PKD1 G>A	16	2153465	2153465	G	A	PKD1	c.8593C>T	NM_001009944.3	NP_001009944.3:p.(Arg2865Trp)	NC_000016.9:g.2153465G>A	VUS	1 lab	4ee93fbe60
16:2141171 PKD1 C>T	16	2141171	2141171	C	T	PKD1	c.11717G>A	NM_001009944.3	NP_001009944.3:p.(Cys3906Tyr)	NC_000016.9:g.2141171C>T	VUS	1 lab	4ee96caf41
2:232209777 ARMC9 G>A	2	232209777	232209777	G	A	ARMC9	c.1969G>A	NM_025139.6	NP_079415.4:p.(Gly657Ser)	NC_000002.11:g.232209777G>A	(Likely) benign	1 lab	205148b542
21:34926000 SON A>G	21	34926000	34926000	A	G	SON	c.4463A>G	NM_138927.4	NP_620305.3:p.(Asn1488Ser)	NC_000021.8:g.34926000A>G	(Likely) benign	1 lab	4eeb3d15fc
2:228029459 COL4A3 C>A	2	228029459	228029459	C	A	COL4A3	c.17C>A	NM_000091.5	NP_000082.2:p.(Ala6Asp)	NC_000002.11:g.228029459C>A	VUS	1 lab	4eeb577f78
14:105242114 AKT1 G>A	14	105242114	105242114	G	A	AKT1	c.310C>T	NM_001382430.1	NP_001369359.1:p.(Gln104Ter)	NC_000014.8:g.105242114G>A	VUS	1 lab	4eec05f120
4:5627593 EVC2 C>G	4	5627593	5627593	C	G	EVC2	c.1929G>C	NM_147127.5	NP_667338.3:p.(Glu643Asp)	NC_000004.11:g.5627593C>G	(Likely) benign	1 lab	4eed02716f
X:135405191 ADGRG4 T>C	X	135405191	135405191	T	C	ADGRG4	c.325T>C	NM_153834.4	NP_722576.3:p.(Ser109Pro)	NC_000023.10:g.135405191T>C	(Likely) benign	1 lab	4eee0f1750
9:135521416 DDX31 C>T	9	135521416	135521416	C	T	DDX31	c.1246G>A	NM_022779.9	NP_073616.7:p.(Glu416Lys)	NC_000009.11:g.135521416C>T	(Likely) benign	1 lab	4eef895697
16:2816575 SRRM2 C>T	16	2816575	2816575	C	T	SRRM2	c.6046C>T	NM_016333.4	NP_057417.3:p.(Arg2016Cys)	NC_000016.9:g.2816575C>T	VUS	1 lab	4ef448dc50
15:100881480 ADAMTS17 G>T	15	100881480	100881480	G	T	ADAMTS17	c.214C>A	NM_139057.4	NP_620688.2:p.(Pro72Thr)	NC_000015.9:g.100881480G>T	(Likely) benign	1 lab	4ef4ab399e
7:91755586 CYP51A1 G>A	7	91755586	91755586	G	A	CYP51A1	c.751C>T	NM_000786.4	NP_000777.1:p.(Leu251=)	NC_000007.13:g.91755586G>A	VUS	1 lab	4ef748bd04
4:123868607 AFG2A G>A	4	123868607	123868607	G	A	AFG2A	c.1678G>A	NM_145207.3	NP_660208.2:p.(Val560Ile)	NC_000004.11:g.123868607G>A	VUS	1 lab	4ef82510bd
2:27685629 IFT172 C>A	2	27685629	27685629	C	A	IFT172	c.2054G>T	NM_015662.3	NP_056477.1:p.(Arg685Leu)	NC_000002.11:g.27685629C>A	VUS	1 lab	4ef85f35a4
12:132313103 MMP17 C>CCGCTGCTGT	12	132313103	132313110	C	CCGCTGCTGT	MMP17	c.70_71insTGTCGCTGC	NM_016155.7	NP_057239.4:p.(Leu23_Pro24insLeuSerLeu)	NC_000012.11:g.132313109_132313110insTGTCGCTGC	VUS	1 lab	4efa2fd4af
X:154159853 F8 A>C	X	154159853	154159853	A	C	F8	c.2212T>G	NM_000132.4	NP_000123.1:p.(Tyr738Asp)	NC_000023.10:g.154159853A>C	VUS	1 lab	4efc92166f
6:138200119 TNFAIP3 A>G	6	138200119	138200119	A	G	TNFAIP3	c.1537A>G	NM_001270508.2	NP_001257437.1:p.(Thr513Ala)	NC_000006.11:g.138200119A>G	(Likely) benign	1 lab	4efccf4d33
5:68715456 MARVELD2 G>C	5	68715456	68715456	G	C	MARVELD2	c.244G>C	NM_001038603.3	NP_001033692.2:p.(Val82Leu)	NC_000005.9:g.68715456G>C	VUS	1 lab	4f002ea853
21:41450818 DSCAM C>T	21	41450818	41450818	C	T	DSCAM	c.4507G>A	NM_001389.5	NP_001380.2:p.(Gly1503Ser)	NC_000021.8:g.41450818C>T	VUS	1 lab	4f0064d4b2
6:157150425 ARID1B A>G	6	157150425	157150425	A	G	ARID1B	c.1856A>G	NM_001371656.1	NP_001358585.1:p.(His619Arg)	NC_000006.11:g.157150425A>G	VUS	1 lab	1fbbc3e797
2:96780907 ADRA2B G>A	2	96780907	96780907	G	A	ADRA2B	c.991C>T	NM_000682.7	NP_000673.2:p.(Gln331Ter)	NC_000002.11:g.96780907G>A	(Likely) benign	1 lab	4f01bf739d
11:6662138 DCHS1 C>T	11	6662138	6662138	C	T	DCHS1	c.707G>A	NM_003737.4	NP_003728.1:p.(Arg236Lys)	NC_000011.9:g.6662138C>T	VUS	1 lab	4f02c3332a
X:32456359 DMD T>TC	X	32456359	32456360	T	TC	DMD	c.4069dup	NM_004006.3	NP_003997.2:p.(Glu1357GlyfsTer10)	NC_000023.10:g.32456360dup	(Likely) pathogenic	1 lab	4f032c470b
2:39278328 SOS1 C>A	2	39278328	39278328	C	A	SOS1	c.821G>T	NM_005633.4	NP_005624.2:p.(Ser274Ile)	NC_000002.11:g.39278328C>A	(Likely) benign	1 lab	4f04218354
12:133219861 POLE G>A	12	133219861	133219861	G	A	POLE	c.4500C>T	NM_006231.4	NP_006222.2:p.(Phe1500=)	NC_000012.11:g.133219861G>A	VUS	1 lab	4f042a72de
11:17614877 OTOG A>G	11	17614877	17614877	A	G	OTOG	c.3141+3A>G	NM_001292063.2	NP_001278992.1:p.?	NC_000011.9:g.17614877A>G	VUS	1 lab	4f80171b70
11:77064575 PAK1 A>G	11	77064575	77064575	A	G	PAK1	c.836+6T>C	NM_002576.5	NP_002567.3:p.?	NC_000011.9:g.77064575A>G	(Likely) benign	1 lab	4f04f1f419
5:612487 CEP72 C>G	5	612487	612487	C	G	CEP72	c.11C>G	NM_018140.4	NP_060610.2:p.(Ala4Gly)	NC_000005.9:g.612487C>G	VUS	1 lab	4f05bc59b1
X:153296420 MECP2 C>T	X	153296420	153296420	C	T	MECP2	c.895G>A	NM_001110792.2	NP_001104262.1:p.(Ala299Thr)	NC_000023.10:g.153296420C>T	VUS	1 lab	4f0944c874
10:103340081 POLL G>A	10	103340081	103340081	G	A	POLL	c.1287C>T	NM_001174084.2	NP_001167555.1:p.(Asp429=)	NC_000010.10:g.103340081G>A	(Likely) benign	1 lab	4f096b2e18
1:225533862 DNAH14 T>C	1	225533862	225533862	T	C	DNAH14	c.10877T>C	NM_001367479.1	NP_001354408.1:p.(Met3626Thr)	NC_000001.10:g.225533862T>C	(Likely) benign	1 lab	4f0a3336c5
4:5710223 EVC2 G>A	4	5710223	5710223	G	A	EVC2	c.18C>T	NM_147127.5	NP_667338.3:p.(Ser6=)	NC_000004.11:g.5710223G>A	(Likely) benign	1 lab	4f0e7f48a5
17:7359154 CHRNB1 T>C	17	7359154	7359154	T	C	CHRNB1	c.1259T>C	NM_000747.3	NP_000738.2:p.(Ile420Thr)	NC_000017.10:g.7359154T>C	(Likely) benign	1 lab	4f0f789a75
1:22837687 ZBTB40 T>C	1	22837687	22837687	T	C	ZBTB40	c.1849T>C	NM_014870.4	NP_055685.3:p.(Ser617Pro)	NC_000001.10:g.22837687T>C	VUS	1 lab	4f0fc224f8
7:107616188 LAMB1 G>A	7	107616188	107616188	G	A	LAMB1	c.1135C>T	NM_002291.3	NP_002282.2:p.(Pro379Ser)	NC_000007.13:g.107616188G>A	(Likely) benign	1 lab	4f0ffb6652
17:4802047 CHRNE G>A	17	4802047	4802047	G	A	CHRNE	c.1466C>T	NM_000080.4	NP_000071.1:p.(Pro489Leu)	NC_000017.10:g.4802047G>A	(Likely) benign	1 lab	4f13733adf
3:142216021 ATR A>G	3	142216021	142216021	A	G	ATR	c.5572T>C	NM_001184.4	NP_001175.2:p.(Cys1858Arg)	NC_000003.11:g.142216021A>G	VUS	1 lab	4f151ac2de
4:956245 DGKQ G>A	4	956245	956245	G	A	DGKQ	c.2192C>T	NM_001347.4	NP_001338.2:p.(Thr731Met)	NC_000004.11:g.956245G>A	(Likely) benign	1 lab	4f1539006f
8:145003339 PLEC G>A	8	145003339	145003339	G	A	PLEC	c.3192C>T	NM_201384.3	NP_958786.1:p.(Arg1064=)	NC_000008.10:g.145003339G>A	(Likely) benign	1 lab	4f16446502
1:235602180 TBCE A>G	1	235602180	235602180	A	G	TBCE	c.1213A>G	NM_003193.5	NP_003184.1:p.(Asn405Asp)	NC_000001.10:g.235602180A>G	(Likely) benign	1 lab	4f1704a74a
3:9784713 BRPF1 T>G	3	9784713	9784713	T	G	BRPF1	c.2087T>G	NM_001003694.2	NP_001003694.1:p.(Phe696Cys)	NC_000003.11:g.9784713T>G	(Likely) benign	1 lab	4f1771a72a
10:76789006 KAT6B T>G	10	76789006	76789006	T	G	KAT6B	c.4424T>G	NM_012330.4	NP_036462.2:p.(Met1475Arg)	NC_000010.10:g.76789006T>G	(Likely) benign	1 lab	4f1785dc84
15:75704042 SIN3A G>A	15	75704042	75704042	G	A	SIN3A	c.799C>T	NM_001145358.2	NP_001138830.1:p.(Pro267Ser)	NC_000015.9:g.75704042G>A	VUS	1 lab	4f17c9fd7a
6:27219764 PRSS16 G>T	6	27219764	27219764	G	T	PRSS16	c.953G>T	NM_005865.4	NP_005856.1:p.(Gly318Val)	NC_000006.11:g.27219764G>T	(Likely) benign	1 lab	4f18e82472
3:48508280 TREX1 G>GCCTGCAGC	3	48508280	48508297	G	GCCTGCAGC	TREX1	c.236_243dup	NM_033629.6	NP_338599.1:p.(Ser82LeufsTer9)	NC_000003.11:g.48508290_48508297dup	(Likely) pathogenic	1 lab	4f19e14e20
12:47160341 SLC38A4 T>A	12	47160341	47160341	T	A	SLC38A4	c.*143A>T	NM_018018.5	NP_060488.2:p.?	NC_000012.11:g.47160341T>A	(Likely) benign	1 lab	4f1b0d8a23
X:71843132 PHKA1 A>T	X	71843132	71843132	A	T	PHKA1	c.1794-7T>A	NM_002637.4	NP_002628.2:p.?	NC_000023.10:g.71843132A>T	(Likely) benign	1 lab	4f1b6accdc
2:189925466 COL5A2 G>C	2	189925466	189925466	G	C	COL5A2	c.2075C>G	NM_000393.5	NP_000384.2:p.(Pro692Arg)	NC_000002.11:g.189925466G>C	VUS	1 lab	205542e258
16:68863676 CDH1 T>A	16	68863676	68863676	T	A	CDH1	c.2415T>A	NM_004360.5	NP_004351.1:p.(Asp805Glu)	NC_000016.9:g.68863676T>A	VUS	1 lab	4f1fe9b04d
12:106820974 POLR3B G>T	12	106820974	106820974	G	T	POLR3B	c.1102-1G>T	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106820974G>T	(Likely) benign	1 lab	4f202568b6
15:34649336 NUTM1 G>A	15	34649336	34649336	G	A	NUTM1	c.3127G>A	NM_001284292.2	NP_001271221.2:p.(Glu1043Lys)	NC_000015.9:g.34649336G>A	(Likely) benign	1 lab	4f2221822a
3:12976987 IQSEC1 C>T	3	12976987	12976987	C	T	IQSEC1	c.1529G>A	NM_001134382.3	NP_001127854.1:p.(Arg510His)	NC_000003.11:g.12976987C>T	(Likely) benign	1 lab	4f230e1199
6:131948816 MED23 TAAA>T	6	131948816	131948830	TAAA	T	MED23	c.40-7_40-5del	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131948828_131948830del	VUS	1 lab	4f24245aea
16:15812212 MYH11 A>G	16	15812212	15812212	A	G	MYH11	c.5255T>C	NM_002474.3	NP_002465.1:p.(Met1752Thr)	NC_000016.9:g.15812212A>G	(Likely) benign	1 lab	4f249d4cf1
11:1008004 AP2A2 G>A	11	1008004	1008004	G	A	AP2A2	c.2297-8G>A	NM_012305.4	NP_036437.1:p.?	NC_000011.9:g.1008004G>A	(Likely) benign	1 lab	4f24a82670
7:101460957 CUX1 G>A	7	101460957	101460957	G	A	CUX1	c.30+8G>A	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101460957G>A	(Likely) benign	1 lab	4f252b9884
6:168999523 SMOC2 G>C	6	168999523	168999523	G	C	SMOC2	c.663G>C	NM_001166412.2	NP_001159884.1:p.(Gln221His)	NC_000006.11:g.168999523G>C	VUS	1 lab	4f25536d94
1:151379405 POGZ T>C	1	151379405	151379405	T	C	POGZ	c.2527A>G	NM_015100.4	NP_055915.2:p.(Ser843Gly)	NC_000001.10:g.151379405T>C	VUS	1 lab	4f27a2512a
8:27369379 EPHX2 G>A	8	27369379	27369379	G	A	EPHX2	c.687G>A	NM_001979.6	NP_001970.2:p.(Pro229=)	NC_000008.10:g.27369379G>A	VUS	1 lab	4f28b2f37a
10:123260394 FGFR2 T>G	10	123260394	123260394	T	G	FGFR2	c.1507A>C	NM_000141.5	NP_000132.3:p.(Ile503Leu)	NC_000010.10:g.123260394T>G	(Likely) benign	1 lab	4f2b9df81b
20:3208967 SLC4A11 C>T	20	3208967	3208967	C	T	SLC4A11	c.2496G>A	NM_001174089.2	NP_001167560.1:p.(Met832Ile)	NC_000020.10:g.3208967C>T	(Likely) benign	1 lab	4f2dd7e631
16:5128837 ALG1 C>T	16	5128837	5128837	C	T	ALG1	c.820C>T	NM_019109.5	NP_061982.3:p.(Arg274Cys)	NC_000016.9:g.5128837C>T	(Likely) benign	1 lab	4f30524656
19:12996295 KLF1 C>G	19	12996295	12996295	C	G	KLF1	c.749G>C	NM_006563.5	NP_006554.1:p.(Gly250Ala)	NC_000019.9:g.12996295C>G	(Likely) benign	1 lab	4f31f0acce
14:23855757 MYH6 G>A	14	23855757	23855757	G	A	MYH6	c.4726C>T	NM_002471.3	NP_002462.2:p.(Arg1576Trp)	NC_000014.8:g.23855757G>A	VUS	1 lab	20565ade2c
12:124179454 TCTN2 T>C	12	124179454	124179454	T	C	TCTN2	c.1165T>C	NM_024809.5	NP_079085.2:p.(Trp389Arg)	NC_000012.11:g.124179454T>C	VUS	1 lab	4f347662c5
1:235955299 LYST G>C	1	235955299	235955299	G	C	LYST	c.4243C>G	NM_000081.4	NP_000072.2:p.(Pro1415Ala)	NC_000001.10:g.235955299G>C	(Likely) benign	1 lab	4f356d35e5
7:48211098 ABCA13 C>A	7	48211098	48211098	C	A	ABCA13	c.18C>A	NM_152701.5	NP_689914.3:p.(Cys6Ter)	NC_000007.13:g.48211098C>A	VUS	1 lab	4f36d5bb3c
9:133963151 LAMC3 G>A	9	133963151	133963151	G	A	LAMC3	c.4424G>A	NM_006059.4	NP_006050.3:p.(Arg1475His)	NC_000009.11:g.133963151G>A	(Likely) benign	1 lab	4f36e9f22d
7:75221690 HIP1 G>T	7	75221690	75221690	G	T	HIP1	c.327C>A	NM_005338.7	NP_005329.3:p.(Asn109Lys)	NC_000007.13:g.75221690G>T	VUS	1 lab	4f377506d4
2:74459684 SLC4A5 T>C	2	74459684	74459684	T	C	SLC4A5	c.2686A>G	NM_133478.3	NP_597812.1:p.(Thr896Ala)	NC_000002.11:g.74459684T>C	(Likely) benign	1 lab	4f380c3994
X:40551965 MED14 G>A	X	40551965	40551965	G	A	MED14	c.1840C>T	NM_004229.4	NP_004220.2:p.(Arg614Cys)	NC_000023.10:g.40551965G>A	VUS	1 lab	4f3859e929
20:60887379 LAMA5 G>A	20	60887379	60887379	G	A	LAMA5	c.9361-7C>T	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60887379G>A	(Likely) benign	1 lab	4f39cf25bd
X:11160419 ARHGAP6 G>T	X	11160419	11160419	G	T	ARHGAP6	c.2191C>A	NM_013427.3	NP_038286.2:p.(Pro731Thr)	NC_000023.10:g.11160419G>T	(Likely) benign	1 lab	4f3a3caff7
14:68260474 ZFYVE26 C>A	14	68260474	68260474	C	A	ZFYVE26	c.2404G>T	NM_015346.4	NP_056161.2:p.(Gly802Ter)	NC_000014.8:g.68260474C>A	(Likely) pathogenic	1 lab	4f3c1849bf
1:92709873 C1orf146 GT>G	1	92709873	92709879	GT	G	C1orf146	c.266del	NM_001012425.2	NP_001012425.1:p.(Leu89TrpfsTer15)	NC_000001.10:g.92709879del	VUS	1 lab	4f3d181d11
10:75583809 CAMK2G C>T	10	75583809	75583809	C	T	CAMK2G	c.1189G>A	NM_001367534.1	NP_001354463.1:p.(Asp397Asn)	NC_000010.10:g.75583809C>T	(Likely) benign	1 lab	4f3d8061b4
5:171509379 STK10 T>C	5	171509379	171509379	T	C	STK10	c.1940A>G	NM_005990.4	NP_005981.3:p.(Asp647Gly)	NC_000005.9:g.171509379T>C	VUS	1 lab	4f3df2f618
2:48045981 FBXO11 T>C	2	48045981	48045981	T	C	FBXO11	c.1943A>G	NM_001190274.2	NP_001177203.1:p.(Asn648Ser)	NC_000002.11:g.48045981T>C	VUS	1 lab	4f3fba6c5a
22:38477277 SLC16A8 G>A	22	38477277	38477277	G	A	SLC16A8	c.768C>T	NM_013356.3	NP_037488.2:p.(Tyr256=)	NC_000022.10:g.38477277G>A	VUS	1 lab	4f4098f653
11:118371743 KMT2A G>A	11	118371743	118371743	G	A	KMT2A	c.6200G>A	NM_001197104.2	NP_001184033.1:p.(Arg2067His)	NC_000011.9:g.118371743G>A	VUS	1 lab	4f41191f03
14:24738810 RABGGTA C>T	14	24738810	24738810	C	T	RABGGTA	c.518G>A	NM_182836.3	NP_878256.1:p.(Arg173Gln)	NC_000014.8:g.24738810C>T	VUS	1 lab	4f43649917
19:36342505 NPHS1 A>G	19	36342505	36342505	A	G	NPHS1	c.128T>C	NM_004646.3	NP_004637.1:p.(Val43Ala)	NC_000019.9:g.36342505A>G	(Likely) benign	1 lab	2056a9c30f
15:73029908 BBS4 GAACAAATAAGA>G	15	73029908	73029919	GAACAAATAAGA	G	BBS4	c.1541_1551del	NM_033028.5	NP_149017.2:p.(Glu514GlyfsTer7)	NC_000015.9:g.73029909_73029919del	(Likely) pathogenic	1 lab	4f46b6fde8
9:130605413 ENG G>T	9	130605413	130605413	G	T	ENG	c.179C>A	NM_001114753.3	NP_001108225.1:p.(Ala60Asp)	NC_000009.11:g.130605413G>T	(Likely) benign	1 lab	4f46eab282
7:138545946 KIAA1549 C>T	7	138545946	138545946	C	T	KIAA1549	c.5186G>A	NM_001164665.2	NP_001158137.1:p.(Arg1729Lys)	NC_000007.13:g.138545946C>T	(Likely) benign	1 lab	4f4883143a
2:179538372 TTN G>A	2	179538372	179538372	G	A	TTN	c.34774C>T	NM_001267550.2	NP_001254479.2:p.(Pro11592Ser)	NC_000002.11:g.179538372G>A	(Likely) benign	1 lab	4f489a8e11
16:89350537 ANKRD11 CTTTTT>C	16	89350537	89350543	CTTTTT	C	ANKRD11	c.2408_2412del	NM_013275.6	NP_037407.4:p.(Lys803ArgfsTer5)	NC_000016.9:g.89350539_89350543del	(Likely) pathogenic	1 lab	4f4a354b14
7:98581845 TRRAP A>G	7	98581845	98581845	A	G	TRRAP	c.9152A>G	NM_001375524.1	NP_001362453.1:p.(Asn3051Ser)	NC_000007.13:g.98581845A>G	VUS	1 lab	4f4d41dc00
7:92764106 SAMD9L A>G	7	92764106	92764106	A	G	SAMD9L	c.1179T>C	NM_152703.5	NP_689916.2:p.(Ser393=)	NC_000007.13:g.92764106A>G	(Likely) benign	1 lab	4f4dbb044c
19:49485630 GYS1 T>C	19	49485630	49485630	T	C	GYS1	c.944A>G	NM_002103.5	NP_002094.2:p.(His315Arg)	NC_000019.9:g.49485630T>C	VUS	1 lab	4f4dcfcd21
2:1983516 MYT1L T>A	2	1983516	1983516	T	A	MYT1L	c.34A>T	NM_001303052.2	NP_001289981.1:p.(Thr12Ser)	NC_000002.11:g.1983516T>A	(Likely) benign	1 lab	4f4e2753f2
19:22363009 ZNF676 G>A	19	22363009	22363009	G	A	ZNF676	c.1510C>T	NM_001001411.3	NP_001001411.2:p.(Arg504Cys)	NC_000019.9:g.22363009G>A	VUS	1 lab	4f4e9ae4c0
4:24854757 CCDC149 T>A	4	24854757	24854757	T	A	CCDC149	c.294A>T	NM_001395273.1	NP_001382202.1:p.(Lys98Asn)	NC_000004.11:g.24854757T>A	VUS	1 lab	4f505ff828
19:36224258 KMT2B A>AGCCC	19	36224258	36224266	A	AGCCC	KMT2B	c.6813_6816dup	NM_014727.3	NP_055542.1:p.(Arg2273AlafsTer31)	NC_000019.9:g.36224263_36224266dup	(Likely) pathogenic	1 lab	4f52123249
17:65882421 BPTF A>G	17	65882421	65882421	A	G	BPTF	c.1865-5539A>G	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65882421A>G	VUS	1 lab	4f52dac7a0
11:43351507 API5 T>G	11	43351507	43351507	T	G	API5	c.1128-8T>G	NM_001142930.2	NP_001136402.1:p.?	NC_000011.9:g.43351507T>G	VUS	1 lab	4f54edc587
22:20049216 TANGO2 C>T	22	20049216	20049216	C	T	TANGO2	c.605+10C>T	NM_152906.7	NP_690870.3:p.?	NC_000022.10:g.20049216C>T	VUS	1 lab	4f55d2705f
4:6303971 WFS1 C>A	4	6303971	6303971	C	A	WFS1	c.2449C>A	NM_006005.3	NP_005996.2:p.(Leu817Met)	NC_000004.11:g.6303971C>A	VUS	1 lab	4f56dfff8d
17:27062332 NEK8 G>A	17	27062332	27062332	G	A	NEK8	c.561G>A	NM_178170.3	NP_835464.1:p.(Trp187Ter)	NC_000017.10:g.27062332G>A	VUS	1 lab	4f76a69c49
11:66610937 TOP6BL T>A	11	66610937	66610937	T	A	TOP6BL	c.*232T>A	NM_001302084.2	NP_001289013.1:p.?	NC_000011.9:g.66610937T>A	(Likely) benign	1 lab	4f58543f86
21:40190444 ETS2 G>A	21	40190444	40190444	G	A	ETS2	c.685G>A	NM_005239.6	NP_005230.1:p.(Val229Ile)	NC_000021.8:g.40190444G>A	(Likely) benign	1 lab	4f589da3ec
1:181762863 CACNA1E G>A	1	181762863	181762863	G	A	CACNA1E	c.5961G>A	NM_001205293.3	NP_001192222.1:p.(Ser1987=)	NC_000001.10:g.181762863G>A	VUS	1 lab	4f58e4ed55
20:35882665 GHRH G>T	20	35882665	35882665	G	T	GHRH	c.256C>A	NM_021081.6	NP_066567.1:p.(Gln86Lys)	NC_000020.10:g.35882665G>T	(Likely) benign	1 lab	4f5a0bd37b
6:82922518 IBTK G>A	6	82922518	82922518	G	A	IBTK	c.2205-8C>T	NM_015525.4	NP_056340.2:p.?	NC_000006.11:g.82922518G>A	(Likely) benign	1 lab	4f5abc578a
9:35793985 NPR2 T>G	9	35793985	35793985	T	G	NPR2	c.758T>G	NM_003995.4	NP_003986.2:p.(Phe253Cys)	NC_000009.11:g.35793985T>G	VUS	1 lab	4f5b6626ca
2:179454297 TTN G>T	2	179454297	179454297	G	T	TTN	c.62155C>A	NM_001267550.2	NP_001254479.2:p.(His20719Asn)	NC_000002.11:g.179454297G>T	VUS	1 lab	4f5d3b4c70
3:129195519 IFT122 A>G	3	129195519	129195519	A	G	IFT122	c.1022A>G	NM_052989.3	NP_443715.1:p.(Gln341Arg)	NC_000003.11:g.129195519A>G	VUS	1 lab	4f5f4ea869
8:21983134 HR T>C	8	21983134	21983134	T	C	HR	c.1517A>G	NM_005144.5	NP_005135.2:p.(Glu506Gly)	NC_000008.10:g.21983134T>C	(Likely) benign	1 lab	4f60c38d64
1:976744 AGRN G>A	1	976744	976744	G	A	AGRN	c.919G>A	NM_198576.4	NP_940978.2:p.(Glu307Lys)	NC_000001.10:g.976744G>A	(Likely) benign	1 lab	4f61e9efb8
12:111772287 CUX2 G>C	12	111772287	111772287	G	C	CUX2	c.2969G>C	NM_015267.4	NP_056082.2:p.(Ser990Thr)	NC_000012.11:g.111772287G>C	(Likely) benign	1 lab	4f62aa68bc
17:4836233 GP1BA G>A	17	4836233	4836233	G	A	GP1BA	c.334G>A	NM_000173.7	NP_000164.5:p.(Gly112Arg)	NC_000017.10:g.4836233G>A	(Likely) benign	1 lab	4f63ea9386
14:56134011 KTN1 A>G	14	56134011	56134011	A	G	KTN1	c.3230A>G	NM_001079521.2	NP_001072989.1:p.(Lys1077Arg)	NC_000014.8:g.56134011A>G	VUS	1 lab	4f65f3994a
1:27100142 ARID1A A>G	1	27100142	27100142	A	G	ARID1A	c.3938A>G	NM_006015.6	NP_006006.3:p.(Asn1313Ser)	NC_000001.10:g.27100142A>G	(Likely) benign	1 lab	4f6acc11c1
15:89861872 POLG G>A	15	89861872	89861872	G	A	POLG	c.3382C>T	NM_002693.3	NP_002684.1:p.(Arg1128Cys)	NC_000015.9:g.89861872G>A	VUS	1 lab	4f6b68dd37
8:55541802 RP1 A>G	8	55541802	55541802	A	G	RP1	c.5360A>G	NM_006269.2	NP_006260.1:p.(His1787Arg)	NC_000008.10:g.55541802A>G	VUS	1 lab	4f6bb4add1
12:6636051 NCAPD2 C>T	12	6636051	6636051	C	T	NCAPD2	c.2735-6C>T	NM_014865.4	NP_055680.3:p.?	NC_000012.11:g.6636051C>T	VUS	1 lab	4f6c4456bd
5:127419931 SLC12A2 T>TGCGGCG	5	127419931	127419954	T	TGCGGCG	SLC12A2	c.303_308dup	NM_001046.3	NP_001037.1:p.(Ala106_Ala107dup)	NC_000005.9:g.127419949_127419954dup	VUS	1 lab	4f6e3a2e97
15:93541927 CHD2 G>A	15	93541927	93541927	G	A	CHD2	c.4008+76G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93541927G>A	(Likely) benign	1 lab	20587722c9
9:131702704 PHYHD1 G>A	9	131702704	131702704	G	A	PHYHD1	c.514G>A	NM_001100876.2	NP_001094346.1:p.(Gly172Ser)	NC_000009.11:g.131702704G>A	VUS	1 lab	4f6fc49f38
10:37454022 ANKRD30A A>T	10	37454022	37454022	A	T	ANKRD30A	c.2003A>T	NM_052997.3	NP_443723.3:p.(Asp668Val)	NC_000010.10:g.37454022A>T	(Likely) benign	1 lab	4f70b7dfd9
16:16248635 ABCC6 G>A	16	16248635	16248635	G	A	ABCC6	c.4058C>T	NM_001171.6	NP_001162.5:p.(Pro1353Leu)	NC_000016.9:g.16248635G>A	VUS	1 lab	4f70c28178
8:38287398 FGFR1 G>A	8	38287398	38287398	G	A	FGFR1	c.160C>T	NM_023110.3	NP_075598.2:p.(Arg54Cys)	NC_000008.10:g.38287398G>A	VUS	1 lab	4f70d7e302
11:17408949 KCNJ11 C>T	11	17408949	17408949	C	T	KCNJ11	c.690G>A	NM_000525.4	NP_000516.3:p.(Val230=)	NC_000011.9:g.17408949C>T	(Likely) benign	1 lab	4f72a25886
2:179413771 TTN C>T	2	179413771	179413771	C	T	TTN	c.92582G>A	NM_001267550.2	NP_001254479.2:p.(Cys30861Tyr)	NC_000002.11:g.179413771C>T	VUS	1 lab	4f72ebea0b
18:73000282 TSHZ1 G>A	18	73000282	73000282	G	A	TSHZ1	c.2920G>A	NM_001308210.2	NP_001295139.1:p.(Asp974Asn)	NC_000018.9:g.73000282G>A	(Likely) benign	1 lab	4f73282cf0
X:74334589 ABCB7 C>T	X	74334589	74334589	C	T	ABCB7	c.246G>A	NM_001271696.3	NP_001258625.1:p.(Lys82=)	NC_000023.10:g.74334589C>T	VUS	1 lab	4f76b3c38a
6:43488006 POLR1C C>T	6	43488006	43488006	C	T	POLR1C	c.503-7C>T	NM_203290.4	NP_976035.1:p.?	NC_000006.11:g.43488006C>T	(Likely) benign	1 lab	4f77fdc0ad
12:51072578 DIP2B C>T	12	51072578	51072578	C	T	DIP2B	c.1033C>T	NM_173602.3	NP_775873.2:p.(Arg345Cys)	NC_000012.11:g.51072578C>T	VUS	1 lab	4f7826c7bf
21:33039672 SOD1 T>C	21	33039672	33039672	T	C	SOD1	c.341T>C	NM_000454.5	NP_000445.1:p.(Ile114Thr)	NC_000021.8:g.33039672T>C	(Likely) pathogenic	1 lab	4f7bef11c8
12:4543418 FGF6 G>T	12	4543418	4543418	G	T	FGF6	c.590C>A	NM_020996.3	NP_066276.2:p.(Pro197Gln)	NC_000012.11:g.4543418G>T	VUS	1 lab	4f7ca4e7b6
X:114424429 RBMXL3 A>G	X	114424429	114424429	A	G	RBMXL3	c.425A>G	NM_001145346.2	NP_001138818.1:p.(Tyr142Cys)	NC_000023.10:g.114424429A>G	(Likely) benign	1 lab	4f7dd21c2b
5:37045598 NIPBL C>T	5	37045598	37045598	C	T	NIPBL	c.6397C>T	NM_133433.4	NP_597677.2:p.(Leu2133Phe)	NC_000005.9:g.37045598C>T	VUS	1 lab	4f7ecf5268
19:49000737 LMTK3 GGTCC>G	19	49000737	49000741	GGTCC	G	LMTK3	c.3585_3588del	NM_001388485.1	NP_001375414.1:p.(Asp1196ProfsTer119)	NC_000019.9:g.49000738_49000741del	VUS	1 lab	4f7f4f5263
21:45711098 AIRE G>T	21	45711098	45711098	G	T	AIRE	c.995+5G>T	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45711098G>T	VUS	1 lab	4f80342a26
6:43480937 YIPF3 C>T	6	43480937	43480937	C	T	YIPF3	c.536G>A	NM_015388.4	NP_056203.2:p.(Arg179Gln)	NC_000006.11:g.43480937C>T	VUS	1 lab	4f805a37d1
1:205180453 DSTYK C>T	1	205180453	205180453	C	T	DSTYK	c.211G>A	NM_015375.3	NP_056190.1:p.(Gly71Ser)	NC_000001.10:g.205180453C>T	(Likely) benign	1 lab	2059db6481
9:94519811 ROR2 T>C	9	94519811	94519811	T	C	ROR2	c.206A>G	NM_004560.4	NP_004551.2:p.(Asn69Ser)	NC_000009.11:g.94519811T>C	VUS	1 lab	4f8255e16e
9:109689711 ZNF462 T>A	9	109689711	109689711	T	A	ZNF462	c.3518T>A	NM_021224.6	NP_067047.4:p.(Ile1173Lys)	NC_000009.11:g.109689711T>A	(Likely) benign	1 lab	4f82ea0fae
11:64064970 KCNK4 T>G	11	64064970	64064970	T	G	KCNK4	c.506T>G	NM_033310.3	NP_201567.1:p.(Val169Gly)	NC_000011.9:g.64064970T>G	(Likely) benign	1 lab	4f83af3df8
1:155583543 MSTO1 C>T	1	155583543	155583543	C	T	MSTO1	c.1484C>T	NM_018116.4	NP_060586.2:p.(Ser495Phe)	NC_000001.10:g.155583543C>T	VUS	1 lab	4f871a8d39
19:1054563 ABCA7 C>T	19	1054563	1054563	C	T	ABCA7	c.3727-6C>T	NM_019112.4	NP_061985.2:p.?	NC_000019.9:g.1054563C>T	(Likely) benign	1 lab	4f8730bc5b
6:32023810 TNXB T>C	6	32023810	32023810	T	C	TNXB	c.8285A>G	NM_001365276.2	NP_001352205.1:p.(His2762Arg)	NC_000006.11:g.32023810T>C	(Likely) benign	1 lab	4f87806578
1:103427466 COL11A1 C>G	1	103427466	103427466	C	G	COL11A1	c.3124G>C	NM_001854.4	NP_001845.3:p.(Gly1042Arg)	NC_000001.10:g.103427466C>G	VUS	1 lab	4f87b99705
11:2154783 IGF2 G>A	11	2154783	2154783	G	A	IGF2	c.270C>T	NM_000612.6	NP_000603.1:p.(Ser90=)	NC_000011.9:g.2154783G>A	(Likely) benign	1 lab	4f894d681b
16:2168019 PKD1 T>G	16	2168019	2168019	T	G	PKD1	c.974A>C	NM_001009944.3	NP_001009944.3:p.(Tyr325Ser)	NC_000016.9:g.2168019T>G	VUS	1 lab	4f8bd7f37c
6:29638163 MOG G>A	6	29638163	29638163	G	A	MOG	c.698G>A	NM_206809.4	NP_996532.2:p.(Arg233Gln)	NC_000006.11:g.29638163G>A	(Likely) benign	1 lab	4f8cb2cb1d
16:51174820 SALL1 G>C	16	51174820	51174820	G	C	SALL1	c.1313C>G	NM_002968.3	NP_002959.2:p.(Ala438Gly)	NC_000016.9:g.51174820G>C	(Likely) benign	1 lab	4f8d2a0d18
10:64913640 NRBF2 G>A	10	64913640	64913640	G	A	NRBF2	c.526G>A	NM_030759.5	NP_110386.2:p.(Ala176Thr)	NC_000010.10:g.64913640G>A	(Likely) benign	1 lab	4f8d7921c6
16:2161760 PKD1 G>A	16	2161760	2161760	G	A	PKD1	c.3408C>T	NM_001009944.3	NP_001009944.3:p.(Gly1136=)	NC_000016.9:g.2161760G>A	(Likely) benign	1 lab	4f8e693f7f
2:219486294 PLCD4 A>T	2	219486294	219486294	A	T	PLCD4	c.512A>T	NM_032726.4	NP_116115.1:p.(Asp171Val)	NC_000002.11:g.219486294A>T	(Likely) benign	1 lab	4f8f176c86
3:47161820 SETD2 T>G	3	47161820	47161820	T	G	SETD2	c.4306A>C	NM_014159.7	NP_054878.5:p.(Thr1436Pro)	NC_000003.11:g.47161820T>G	(Likely) benign	1 lab	4f8f625ecd
12:115109656 TBX3 G>A	12	115109656	115109656	G	A	TBX3	c.2162C>T	NM_005996.4	NP_005987.3:p.(Ala721Val)	NC_000012.11:g.115109656G>A	(Likely) benign	1 lab	4f912a8972
7:100275712 GNB2 C>T	7	100275712	100275712	C	T	GNB2	c.498-9C>T	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100275712C>T	(Likely) benign	1 lab	4f93616a39
11:67888435 CHKA GGGCAGCGGCAGC>G	11	67888435	67888462	GGGCAGCGGCAGC	G	CHKA	c.198_209del	NM_001277.3	NP_001268.2:p.(Leu67_Pro70del)	NC_000011.9:g.67888451_67888462del	VUS	1 lab	4f94aaf24e
6:42666060 PRPH2 G>GCC	6	42666060	42666061	G	GCC	PRPH2	c.1013_1014insGG	NM_000322.5	NP_000313.2:p.(Asp338GlufsTer24)	NC_000006.11:g.42666060_42666061insCC	VUS	1 lab	4f95dfdd83
11:102098192 YAP1 T>G	11	102098192	102098192	T	G	YAP1	c.1164-8T>G	NM_001130145.3	NP_001123617.1:p.?	NC_000011.9:g.102098192T>G	(Likely) benign	1 lab	4f9a342220
X:134156434 RTL8B G>A	X	134156434	134156434	G	A	RTL8B	c.56C>T	NM_001078173.2	NP_001071641.1:p.(Ala19Val)	NC_000023.10:g.134156434G>A	VUS	1 lab	4f9abced69
5:140358559 PCDHAC1 G>A	5	140358559	140358559	G	A	PCDHAC1	c.2459G>A	NM_018898.5	NP_061721.2:p.(Arg820His)	NC_000005.9:g.140358559G>A	(Likely) benign	1 lab	4f9c88d14f
1:22213970 HSPG2 C>T	1	22213970	22213970	C	T	HSPG2	c.901G>A	NM_005529.7	NP_005520.4:p.(Asp301Asn)	NC_000001.10:g.22213970C>T	(Likely) benign	1 lab	4f9f63a343
17:7752635 KDM6B C>G	17	7752635	7752635	C	G	KDM6B	c.3029C>G	NM_001348716.2	NP_001335645.1:p.(Pro1010Arg)	NC_000017.10:g.7752635C>G	VUS	1 lab	4fa18c1205
16:1636277 IFT140 C>T	16	1636277	1636277	C	T	IFT140	c.1010-1G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1636277C>T	(Likely) pathogenic	1 lab	4fa6042010
6:35277549 DEF6 G>A	6	35277549	35277549	G	A	DEF6	c.199G>A	NM_022047.4	NP_071330.3:p.(Gly67Arg)	NC_000006.11:g.35277549G>A	VUS	1 lab	4fa6d7ee9a
8:77763275 ZFHX4 C>A	8	77763275	77763275	C	A	ZFHX4	c.4118C>A	NM_024721.5	NP_078997.4:p.(Thr1373Lys)	NC_000008.10:g.77763275C>A	(Likely) benign	1 lab	4faa84a01e
2:54859848 SPTBN1 G>A	2	54859848	54859848	G	A	SPTBN1	c.3710G>A	NM_003128.3	NP_003119.2:p.(Ser1237Asn)	NC_000002.11:g.54859848G>A	VUS	1 lab	4fab53ae80
2:189899823 COL5A2 C>T	2	189899823	189899823	C	T	COL5A2	c.4172G>A	NM_000393.5	NP_000384.2:p.(Arg1391His)	NC_000002.11:g.189899823C>T	(Likely) benign	1 lab	4fac8a7f43
14:105207251 ADSS1 G>T	14	105207251	105207251	G	T	ADSS1	c.660G>T	NM_152328.5	NP_689541.1:p.(Arg220Ser)	NC_000014.8:g.105207251G>T	VUS	1 lab	4facbd17d9
5:55259281 IL6ST T>A	5	55259281	55259281	T	A	IL6ST	c.712A>T	NM_002184.4	NP_002175.2:p.(Ser238Cys)	NC_000005.9:g.55259281T>A	VUS	1 lab	4faf45ede9
3:134323103 KY C>A	3	134323103	134323103	C	A	KY	c.1304G>T	NM_178554.6	NP_848649.3:p.(Cys435Phe)	NC_000003.11:g.134323103C>A	VUS	1 lab	4fafab3dac
1:145368461 NBPF10 A>C	1	145368461	145368461	A	C	NBPF10	c.11165A>C	NM_001302371.3	NP_001289300.1:p.(Glu3722Ala)	NC_000001.10:g.145368461A>C	VUS	1 lab	4fb046a558
8:141567339 AGO2 A>G	8	141567339	141567339	A	G	AGO2	c.879-4T>C	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141567339A>G	VUS	1 lab	4fb20e2876
6:32166433 NOTCH4 ACCT>A	6	32166433	32166440	ACCT	A	NOTCH4	c.4607_4609del	NM_004557.4	NP_004548.3:p.(Glu1536del)	NC_000006.11:g.32166438_32166440del	(Likely) benign	1 lab	4fb2bc7981
15:25616531 UBE3A C>T	15	25616531	25616531	C	T	UBE3A	c.790G>A	NM_130839.5	NP_570854.1:p.(Val264Met)	NC_000015.9:g.25616531C>T	(Likely) benign	1 lab	4fb2fc91c5
2:179418327 TTN G>T	2	179418327	179418327	G	T	TTN	c.89405C>A	NM_001267550.2	NP_001254479.2:p.(Pro29802His)	NC_000002.11:g.179418327G>T	VUS	1 lab	4fb369f2cb
13:99061646 FARP1 G>T	13	99061646	99061646	G	T	FARP1	c.1469G>T	NM_005766.4	NP_005757.1:p.(Gly490Val)	NC_000013.10:g.99061646G>T	(Likely) benign	1 lab	4fb45301bd
2:163123801 IFIH1 G>GT	2	163123801	163123803	G	GT	IFIH1	c.2986dup	NM_022168.4	NP_071451.2:p.(Thr996AsnfsTer19)	NC_000002.11:g.163123803dup	VUS	1 lab	4fb4fb920f
8:144993258 PLEC G>A	8	144993258	144993258	G	A	PLEC	c.10731C>T	NM_201384.3	NP_958786.1:p.(Gly3577=)	NC_000008.10:g.144993258G>A	(Likely) benign	1 lab	4fb4fdd82b
15:67879248 MAP2K5 A>G	15	67879248	67879248	A	G	MAP2K5	c.428A>G	NM_145160.3	NP_660143.1:p.(Asn143Ser)	NC_000015.9:g.67879248A>G	VUS	1 lab	4fb547c7f3
10:89474869 PAPSS2 G>A	10	89474869	89474869	G	A	PAPSS2	c.753+14G>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89474869G>A	(Likely) benign	1 lab	4fb6363e70
X:135333479 MAP7D3 GC>G	X	135333479	135333480	GC	G	MAP7D3	c.38del	NM_024597.4	NP_078873.2:p.(Ser13ThrfsTer4)	NC_000023.10:g.135333480del	VUS	1 lab	4fb6e987fd
2:97815098 ANKRD36 G>A	2	97815098	97815098	G	A	ANKRD36	c.1101G>A	NM_001354587.1	NP_001341516.1:p.(Glu367=)	NC_000002.11:g.97815098G>A	VUS	1 lab	4fb705350a
15:91489992 UNC45A C>T	15	91489992	91489992	C	T	UNC45A	c.1348C>T	NM_018671.5	NP_061141.2:p.(Gln450Ter)	NC_000015.9:g.91489992C>T	VUS	1 lab	4fb863b53c
18:2666869 SMCHD1 A>G	18	2666869	2666869	A	G	SMCHD1	c.263A>G	NM_015295.3	NP_056110.2:p.(Asp88Gly)	NC_000018.9:g.2666869A>G	(Likely) benign	1 lab	4fbaed0eb8
13:101707739 NALCN C>T	13	101707739	101707739	C	T	NALCN	c.5125G>A	NM_052867.4	NP_443099.1:p.(Ala1709Thr)	NC_000013.10:g.101707739C>T	(Likely) benign	1 lab	4fbb9a77bf
17:39137273 KRT40 C>T	17	39137273	39137273	C	T	KRT40	c.818G>A	NM_001389244.1	NP_001376173.1:p.(Arg273His)	NC_000017.10:g.39137273C>T	VUS	1 lab	4fbd396995
22:24468346 CABIN1 C>G	22	24468346	24468346	C	G	CABIN1	c.2518C>G	NM_012295.4	NP_036427.1:p.(Pro840Ala)	NC_000022.10:g.24468346C>G	(Likely) benign	1 lab	4fbd6fe91d
1:27101282 ARID1A G>A	1	27101282	27101282	G	A	ARID1A	c.4564G>A	NM_006015.6	NP_006006.3:p.(Ala1522Thr)	NC_000001.10:g.27101282G>A	(Likely) benign	1 lab	4fbd7bbd96
7:803606 DNAAF5 A>G	7	803606	803606	A	G	DNAAF5	c.1778A>G	NM_017802.4	NP_060272.3:p.(Gln593Arg)	NC_000007.13:g.803606A>G	(Likely) benign	1 lab	4fbdf7d30f
5:140593911 PCDHB13 C>G	5	140593911	140593911	C	G	PCDHB13	c.216C>G	NM_018933.4	NP_061756.1:p.(Asn72Lys)	NC_000005.9:g.140593911C>G	VUS	1 lab	4fc0157c58
3:63898360 ATXN7 G>GGCAGCAGCAGCAGCA	3	63898360	63898392	G	GGCAGCAGCAGCAGCA	ATXN7	c.104_118dup	NM_001377405.1	NP_001364334.1:p.(Gln35_Gln39dup)	NC_000003.11:g.63898378_63898392dup	VUS	1 lab	4fc10a2b33
X:23897144 APOO A>G	X	23897144	23897144	A	G	APOO	c.125T>C	NM_024122.5	NP_077027.1:p.(Leu42Pro)	NC_000023.10:g.23897144A>G	VUS	1 lab	4fc1bfc151
4:170633172 CLCN3 ATT>A	4	170633172	170633194	ATT	A	CLCN3	c.2150-1037_2150-1036del	NM_001829.4	NP_001820.2:p.?	NC_000004.11:g.170633193_170633194del	(Likely) benign	1 lab	4fc3c45acd
4:56886873 CEP135 C>T	4	56886873	56886873	C	T	CEP135	c.3247C>T	NM_025009.5	NP_079285.2:p.(Arg1083Ter)	NC_000004.11:g.56886873C>T	(Likely) pathogenic	1 lab	4fc42d8ff4
1:154164430 TPM3 C>T	1	154164430	154164430	C	T	TPM3	c.65G>A	NM_152263.4	NP_689476.2:p.(Arg22Gln)	NC_000001.10:g.154164430C>T	VUS	1 lab	4fc4d7782a
18:60052220 TNFRSF11A G>C	18	60052220	60052220	G	C	TNFRSF11A	c.1804G>C	NM_003839.4	NP_003830.1:p.(Glu602Gln)	NC_000018.9:g.60052220G>C	VUS	1 lab	4fc60835d9
9:404997 DOCK8 A>G	9	404997	404997	A	G	DOCK8	c.3314A>G	NM_203447.4	NP_982272.2:p.(His1105Arg)	NC_000009.11:g.404997A>G	VUS	1 lab	4fc6d10246
6:1612166 FOXC1 G>A	6	1612166	1612166	G	A	FOXC1	c.1486G>A	NM_001453.3	NP_001444.2:p.(Gly496Ser)	NC_000006.11:g.1612166G>A	VUS	1 lab	4fc75d4b91
2:179575858 TTN C>T	2	179575858	179575858	C	T	TTN	c.28105G>A	NM_001267550.1	NP_001254479.1:p.(Gly9369Ser)	NC_000002.11:g.179575858C>T	VUS	1 lab	206d6b8231
3:71021805 FOXP1 C>G	3	71021805	71021805	C	G	FOXP1	c.1553G>C	NM_001349338.3	NP_001336267.1:p.(Ser518Thr)	NC_000003.11:g.71021805C>G	VUS	1 lab	4fc7e11e0c
4:82126026 PRKG2 G>T	4	82126026	82126026	G	T	PRKG2	c.176C>A	NM_006259.3	NP_006250.1:p.(Ser59Ter)	NC_000004.11:g.82126026G>T	(Likely) pathogenic	1 lab	4fc88f746d
16:53860197 FTO G>C	16	53860197	53860197	G	C	FTO	c.545G>C	NM_001080432.3	NP_001073901.1:p.(Gly182Ala)	NC_000016.9:g.53860197G>C	(Likely) benign	1 lab	4fc890967c
15:33945011 RYR3 G>C	15	33945011	33945011	G	C	RYR3	c.4235G>C	NM_001036.6	NP_001027.3:p.(Gly1412Ala)	NC_000015.9:g.33945011G>C	VUS	1 lab	4fc9334be2
13:24895376 C1QTNF9 G>A	13	24895376	24895376	G	A	C1QTNF9	c.472G>A	NM_178540.5	NP_848635.2:p.(Gly158Arg)	NC_000013.10:g.24895376G>A	VUS	1 lab	4fc97b9ae2
20:61444558 OGFR G>A	20	61444558	61444558	G	A	OGFR	c.1591G>A	NM_007346.4	NP_031372.2:p.(Gly531Arg)	NC_000020.10:g.61444558G>A	VUS	1 lab	4fca28456a
22:41574326 EP300 G>T	22	41574326	41574326	G	T	EP300	c.6611G>T	NM_001429.4	NP_001420.2:p.(Gly2204Val)	NC_000022.10:g.41574326G>T	(Likely) benign	1 lab	4fcb10e140
17:39211210 KRTAP2-2 G>A	17	39211210	39211210	G	A	KRTAP2-2	c.254C>T	NM_033032.3	NP_149021.2:p.(Thr85Met)	NC_000017.10:g.39211210G>A	VUS	1 lab	4fcdaa1596
10:105176350 PDCD11 C>T	10	105176350	105176350	C	T	PDCD11	c.1621C>T	NM_014976.2	NP_055791.1:p.(Pro541Ser)	NC_000010.10:g.105176350C>T	(Likely) benign	1 lab	4fcf010a35
17:29559860 NF1 C>G	17	29559860	29559860	C	G	NF1	c.3457C>G	NM_001042492.3	NP_001035957.1:p.(Leu1153Val)	NC_000017.10:g.29559860C>G	VUS	1 lab	4fcfe1578b
12:106757659 POLR3B GC>G	12	106757659	106757660	GC	G	POLR3B	c.85del	NM_018082.6	NP_060552.4:p.(Leu29CysfsTer6)	NC_000012.11:g.106757660del	VUS	1 lab	4fd0e9f2cf
15:45365657 SORD T>C	15	45365657	45365657	T	C	SORD	c.1003T>C	NM_003104.6	NP_003095.2:p.(Phe335Leu)	NC_000015.9:g.45365657T>C	VUS	1 lab	4fd1413965
7:2579225 BRAT1 C>T	7	2579225	2579225	C	T	BRAT1	c.1550G>A	NM_152743.4	NP_689956.2:p.(Arg517Lys)	NC_000007.13:g.2579225C>T	VUS	1 lab	4fd1c0f01d
19:38943660 RYR1 G>A	19	38943660	38943660	G	A	RYR1	c.1440+6G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38943660G>A	(Likely) benign	1 lab	4fd21e9058
7:65432889 GUSB C>T	7	65432889	65432889	C	T	GUSB	c.1482G>A	NM_000181.4	NP_000172.2:p.(Pro494=)	NC_000007.13:g.65432889C>T	(Likely) benign	1 lab	4fd230098a
4:88537062 DSPP AAAG>A	4	88537062	88537065	AAAG	A	DSPP	c.3249_3251del	NM_014208.3	NP_055023.2:p.(Glu1083_Ser1084delinsAsp)	NC_000004.11:g.88537063_88537065del	(Likely) benign	1 lab	4fd375dacc
22:45970384 FBLN1 C>T	22	45970384	45970384	C	T	FBLN1	c.1698-7C>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45970384C>T	(Likely) benign	1 lab	4fd8542c06
7:149191167 ZNF746 C>T	7	149191167	149191167	C	T	ZNF746	c.364G>A	NM_001394198.1	NP_001381127.1:p.(Glu122Lys)	NC_000007.13:g.149191167C>T	VUS	1 lab	4fd886fb35
14:61263054 MNAT1 A>T	14	61263054	61263054	A	T	MNAT1	c.209A>T	NM_002431.4	NP_002422.1:p.(Lys70Met)	NC_000014.8:g.61263054A>T	VUS	1 lab	4fd88ea718
4:52864054 LRRC66 A>G	4	52864054	52864054	A	G	LRRC66	c.716T>C	NM_001024611.3	NP_001019782.1:p.(Ile239Thr)	NC_000004.11:g.52864054A>G	(Likely) benign	1 lab	4fd9b046fd
9:135946996 CEL G>A	9	135946996	135946996	G	A	CEL	c.2107G>A	NM_001807.6	NP_001798.3:p.(Val703Met)	NC_000009.11:g.135946996G>A	(Likely) benign	1 lab	4fde04929a
15:89392748 ACAN G>A	15	89392748	89392748	G	A	ACAN	c.1812G>A	NM_001369268.1	NP_001356197.1:p.(Thr604=)	NC_000015.9:g.89392748G>A	(Likely) benign	1 lab	4fdebb3dd9
19:7673031 CAMSAP3 G>A	19	7673031	7673031	G	A	CAMSAP3	c.641G>A	NM_020902.2	NP_065953.1:p.(Arg214His)	NC_000019.9:g.7673031G>A	VUS	1 lab	4fdfb090f0
9:73213424 TRPM3 C>T	9	73213424	73213424	C	T	TRPM3	c.2959G>A	NM_001366145.2	NP_001353074.1:p.(Val987Met)	NC_000009.11:g.73213424C>T	VUS	1 lab	4fe02ed499
17:33289702 ZNF830 T>C	17	33289702	33289702	T	C	ZNF830	c.1117T>C	NM_052857.4	NP_443089.3:p.(Ter373GlnextTer15)	NC_000017.10:g.33289702T>C	VUS	1 lab	4fe1e8d0be
12:76739974 BBS10 A>T	12	76739974	76739974	A	T	BBS10	c.1791T>A	NM_024685.4	NP_078961.3:p.(Gly597=)	NC_000012.11:g.76739974A>T	(Likely) benign	1 lab	4fe25179cf
22:41574682 EP300 C>T	22	41574682	41574682	C	T	EP300	c.6967C>T	NM_001429.4	NP_001420.2:p.(Pro2323Ser)	NC_000022.10:g.41574682C>T	(Likely) benign	1 lab	4fe2b88b09
2:209106871 IDH1 TG>T	2	209106871	209106874	TG	T	IDH1	c.699-3del	NM_005896.4	NP_005887.2:p.?	NC_000002.11:g.209106874del	(Likely) benign	1 lab	4fe36df0ab
12:79679603 SYT1 C>T	12	79679603	79679603	C	T	SYT1	c.203C>T	NM_005639.3	NP_005630.1:p.(Ala68Val)	NC_000012.11:g.79679603C>T	(Likely) benign	1 lab	4fe486d1b3
11:6245710 FHIP1B G>A	11	6245710	6245710	G	A	FHIP1B	c.37C>T	NM_001098794.2	NP_001092264.1:p.(Arg13Trp)	NC_000011.9:g.6245710G>A	(Likely) benign	1 lab	4fe4e3406e
1:155582702 MSTO1 G>A	1	155582702	155582702	G	A	MSTO1	c.1034G>A	NM_018116.4	NP_060586.2:p.(Arg345His)	NC_000001.10:g.155582702G>A	VUS	1 lab	4fe5d68f94
17:80789280 TBCD C>G	17	80789280	80789280	C	G	TBCD	c.1318+16470C>G	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80789280C>G	VUS	1 lab	4fe602daf4
9:100364900 TSTD2 A>C	9	100364900	100364900	A	C	TSTD2	c.1402T>G	NM_139246.5	NP_640339.4:p.(Ser468Ala)	NC_000009.11:g.100364900A>C	(Likely) benign	1 lab	4fe66cad1f
7:77789175 MAGI2 T>C	7	77789175	77789175	T	C	MAGI2	c.2845+167A>G	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77789175T>C	(Likely) benign	1 lab	207415fe2d
1:6184729 CHD5 G>T	1	6184729	6184729	G	T	CHD5	c.4395-8C>A	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6184729G>T	(Likely) benign	1 lab	4fe95d5053
1:235577812 TBCE G>A	1	235577812	235577812	G	A	TBCE	c.250G>A	NM_003193.5	NP_003184.1:p.(Ala84Thr)	NC_000001.10:g.235577812G>A	VUS	1 lab	4fe982edfe
X:153296779 MECP2 CG>C	X	153296779	153296782	CG	C	MECP2	c.535del	NM_001110792.2	NP_001104262.1:p.(Arg179GlyfsTer43)	NC_000023.10:g.153296782del	(Likely) pathogenic	1 lab	4fea115398
8:144896066 SCRIB T>G	8	144896066	144896066	T	G	SCRIB	c.278A>C	NM_182706.5	NP_874365.3:p.(Asp93Ala)	NC_000008.10:g.144896066T>G	VUS	1 lab	4fea91bad9
8:87153758 ATP6V0D2 G>A	8	87153758	87153758	G	A	ATP6V0D2	c.561G>A	NM_152565.1	NP_689778.1:p.(Lys187=)	NC_000008.10:g.87153758G>A	(Likely) benign	1 lab	4feac0aacf
4:103806604 CISD2 C>T	4	103806604	103806604	C	T	CISD2	c.318+17C>T	NM_001008388.5	NP_001008389.1:p.?	NC_000004.11:g.103806604C>T	(Likely) benign	1 lab	4febab837b
19:41060307 SPTBN4 CATG>C	19	41060307	41060314	CATG	C	SPTBN4	c.4934_4936del	NM_020971.3	NP_066022.2:p.(Met1645del)	NC_000019.9:g.41060312_41060314del	VUS	1 lab	4febe485ef
7:6474498 DAGLB G>A	7	6474498	6474498	G	A	DAGLB	c.573C>T	NM_139179.4	NP_631918.3:p.(Ser191=)	NC_000007.13:g.6474498G>A	VUS	1 lab	4fec5bb530
22:26388416 MYO18B G>T	22	26388416	26388416	G	T	MYO18B	c.6244G>T	NM_032608.7	NP_115997.5:p.(Ala2082Ser)	NC_000022.10:g.26388416G>T	VUS	1 lab	4fecd2425c
13:28498679 PDX1 C>T	13	28498679	28498679	C	T	PDX1	c.693C>T	NM_000209.4	NP_000200.1:p.(Ser231=)	NC_000013.10:g.28498679C>T	(Likely) benign	1 lab	4fed39d114
19:8398634 KANK3 G>A	19	8398634	8398634	G	A	KANK3	c.1693C>T	NM_198471.3	NP_940873.2:p.(Arg565Trp)	NC_000019.9:g.8398634G>A	VUS	1 lab	4fedca5415
X:154754125 TMLHE A>C	X	154754125	154754125	A	C	TMLHE	c.350T>G	NM_018196.4	NP_060666.1:p.(Phe117Cys)	NC_000023.10:g.154754125A>C	(Likely) benign	1 lab	4fee93282c
11:17448609 ABCC8 C>T	11	17448609	17448609	C	T	ABCC8	c.2209G>A	NM_000352.6	NP_000343.2:p.(Val737Ile)	NC_000011.9:g.17448609C>T	(Likely) benign	1 lab	4feed82600
2:152536421 NEB C>T	2	152536421	152536421	C	T	NEB	c.3147+11G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152536421C>T	(Likely) benign	1 lab	4feef82ca6
19:10464317 TYK2 T>G	19	10464317	10464317	T	G	TYK2	c.2914A>C	NM_003331.4	NP_003322.3:p.(Lys972Gln)	NC_000019.9:g.10464317T>G	(Likely) benign	1 lab	207462969b
15:55727128 DNAAF4 T>A	15	55727128	55727128	T	A	DNAAF4	c.1022A>T	NM_130810.4	NP_570722.2:p.(His341Leu)	NC_000015.9:g.55727128T>A	VUS	1 lab	4ff399409b
19:38939430 RYR1 C>T	19	38939430	38939430	C	T	RYR1	c.1099C>T	NM_000540.3	NP_000531.2:p.(Arg367Trp)	NC_000019.9:g.38939430C>T	VUS	1 lab	4ff3ca614b
13:26117515 ATP8A2 C>G	13	26117515	26117515	C	G	ATP8A2	c.866C>G	NM_016529.6	NP_057613.4:p.(Thr289Ser)	NC_000013.10:g.26117515C>G	VUS	1 lab	4ff446e768
7:73471784 ELN C>T	7	73471784	73471784	C	T	ELN	c.1358-186C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471784C>T	(Likely) benign	1 lab	4ff59094e5
3:145809658 PLOD2 G>A	3	145809658	145809658	G	A	PLOD2	c.808C>T	NM_182943.3	NP_891988.1:p.(Pro270Ser)	NC_000003.11:g.145809658G>A	VUS	1 lab	4ff6173513
11:103074410 DYNC2H1 A>C	11	103074410	103074410	A	C	DYNC2H1	c.8216A>C	NM_001377.3	NP_001368.2:p.(Tyr2739Ser)	NC_000011.9:g.103074410A>C	VUS	1 lab	4ff779b239
10:12131240 DHTKD1 G>A	10	12131240	12131240	G	A	DHTKD1	c.973G>A	NM_018706.7	NP_061176.4:p.(Val325Ile)	NC_000010.10:g.12131240G>A	VUS	1 lab	4ff781f09d
3:9490214 SETD5 G>T	3	9490214	9490214	G	T	SETD5	c.2246G>T	NM_001080517.3	NP_001073986.1:p.(Cys749Phe)	NC_000003.11:g.9490214G>T	VUS	1 lab	1fc2047a05
7:117180256 CFTR C>G	7	117180256	117180256	C	G	CFTR	c.972C>G	NM_000492.4	NP_000483.3:p.(Pro324=)	NC_000007.13:g.117180256C>G	(Likely) benign	1 lab	1fc5ec7005
2:70524369 TIMCC T>C	2	70524369	70524369	T	C	TIMCC	c.*52A>G	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524369T>C	VUS	1 lab	4ffbac62a2
5:107717269 FBXL17 G>C	5	107717269	107717269	G	C	FBXL17	c.124C>G	NM_001163315.3	NP_001156787.2:p.(Pro42Ala)	NC_000005.9:g.107717269G>C	VUS	1 lab	4ffc918b1f
X:118148257 LONRF3 T>A	X	118148257	118148257	T	A	LONRF3	c.2062T>A	NM_001031855.3	NP_001027026.1:p.(Ser688Thr)	NC_000023.10:g.118148257T>A	VUS	1 lab	4ffcb872f9
18:50832036 DCC G>A	18	50832036	50832036	G	A	DCC	c.2000G>A	NM_005215.4	NP_005206.2:p.(Arg667His)	NC_000018.9:g.50832036G>A	(Likely) benign	1 lab	4ffdec2220
X:9863628 SHROOM2 A>T	X	9863628	9863628	A	T	SHROOM2	c.1680A>T	NM_001649.4	NP_001640.1:p.(Lys560Asn)	NC_000023.10:g.9863628A>T	VUS	1 lab	4fff3f3487
6:17541305 CAP2 C>A	6	17541305	17541305	C	A	CAP2	c.928C>A	NM_006366.3	NP_006357.1:p.(Pro310Thr)	NC_000006.11:g.17541305C>A	(Likely) benign	1 lab	500004a3c7
2:186673805 FSIP2 C>T	2	186673805	186673805	C	T	FSIP2	c.19772C>T	NM_173651.4	NP_775922.3:p.(Thr6591Ile)	NC_000002.11:g.186673805C>T	(Likely) benign	1 lab	50000f2e30
14:105415511 AHNAK2 TGTCCACCTGGGGGCCCTTGAG>T	14	105415511	105415538	TGTCCACCTGGGGGCCCTTGAG	T	AHNAK2	c.6256_6276del	NM_138420.4	NP_612429.2:p.(Leu2086_Asp2092del)	NC_000014.8:g.105415518_105415538del	(Likely) benign	1 lab	5000333ca1
17:58767041 BCAS3 A>C	17	58767041	58767041	A	C	BCAS3	c.139-6A>C	NM_017679.5	NP_060149.3:p.?	NC_000017.10:g.58767041A>C	(Likely) benign	1 lab	5001611d93
10:123353289 FGFR2 T>C	10	123353289	123353289	T	C	FGFR2	c.43A>G	NM_000141.5	NP_000132.3:p.(Met15Val)	NC_000010.10:g.123353289T>C	(Likely) benign	1 lab	5002db08fe
1:3649446 TP73 G>A	1	3649446	3649446	G	A	TP73	c.1714G>A	NM_005427.4	NP_005418.1:p.(Gly572Ser)	NC_000001.10:g.3649446G>A	VUS	1 lab	50035fa6c8
16:67663085 CTCF G>A	16	67663085	67663085	G	A	CTCF	c.1702-216G>A	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67663085G>A	(Likely) benign	1 lab	5005238a62
X:69478522 P2RY4 C>T	X	69478522	69478522	C	T	P2RY4	c.953G>A	NM_002565.4	NP_002556.1:p.(Arg318His)	NC_000023.10:g.69478522C>T	VUS	1 lab	5005d5d78b
19:7293878 INSR C>G	19	7293878	7293878	C	G	INSR	c.25G>C	NM_000208.4	NP_000199.2:p.(Ala9Pro)	NC_000019.9:g.7293878C>G	(Likely) benign	1 lab	50074be72f
X:54381066 WNK3 C>T	X	54381066	54381066	C	T	WNK3	c.-120+3053G>A	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54381066C>T	(Likely) benign	1 lab	500ab0f632
X:57458378 FAAH2 G>A	X	57458378	57458378	G	A	FAAH2	c.1024G>A	NM_174912.4	NP_777572.2:p.(Gly342Arg)	NC_000023.10:g.57458378G>A	VUS	1 lab	500bbcca7e
5:42719482 GHR T>C	5	42719482	42719482	T	C	GHR	c.1873T>C	NM_000163.5	NP_000154.1:p.(Cys625Arg)	NC_000005.9:g.42719482T>C	VUS	1 lab	500da3aa72
9:39088610 CNTNAP3 C>G	9	39088610	39088610	C	G	CNTNAP3	c.3030G>C	NM_033655.5	NP_387504.2:p.(Met1010Ile)	NC_000009.11:g.39088610C>G	(Likely) benign	1 lab	50108a296f
6:168314939 AFDN G>A	6	168314939	168314939	G	A	AFDN	c.2150G>A	NM_001386888.1	NP_001373817.1:p.(Arg717Gln)	NC_000006.11:g.168314939G>A	(Likely) benign	1 lab	5010c7dfd3
4:39217638 WDR19 G>A	4	39217638	39217638	G	A	WDR19	c.1134+5G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39217638G>A	VUS	1 lab	5010f71e37
2:179400583 TTN C>A	2	179400583	179400583	C	A	TTN	c.100766-7G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400583C>A	(Likely) benign	1 lab	50110491d4
X:24197693 ZFX G>GACATGTTGA	X	24197693	24197708	G	GACATGTTGA	ZFX	c.459_467dup	NM_003410.4	NP_003401.2:p.(Glu154_Val156dup)	NC_000023.10:g.24197700_24197708dup	VUS	1 lab	5011a672cb
4:88940609 PKD2 GGTCTCT>G	4	88940609	88940616	GGTCTCT	G	PKD2	c.597_602del	NM_000297.4	NP_000288.1:p.(Leu200_Trp201del)	NC_000004.11:g.88940611_88940616del	(Likely) pathogenic	1 lab	5011bfe8a0
19:5699123 LONP1 G>A	19	5699123	5699123	G	A	LONP1	c.1600C>T	NM_004793.4	NP_004784.2:p.(Arg534Cys)	NC_000019.9:g.5699123G>A	VUS	1 lab	50166aaff6
2:27669137 IFT172 A>G	2	27669137	27669137	A	G	IFT172	c.4745T>C	NM_015662.3	NP_056477.1:p.(Ile1582Thr)	NC_000002.11:g.27669137A>G	(Likely) benign	1 lab	5017df85eb
13:25044131 PARP4 ACTTT>A	13	25044131	25044135	ACTTT	A	PARP4	c.1943_1946del	NM_006437.4	NP_006428.2:p.(Lys648IlefsTer31)	NC_000013.10:g.25044132_25044135del	VUS	1 lab	501826c857
1:169576311 SELP G>T	1	169576311	169576311	G	T	SELP	c.1395C>A	NM_003005.4	NP_002996.2:p.(Phe465Leu)	NC_000001.10:g.169576311G>T	VUS	1 lab	501902297e
10:71139812 HK1 C>T	10	71139812	71139812	C	T	HK1	c.1226C>T	NM_000188.3	NP_000179.2:p.(Thr409Met)	NC_000010.10:g.71139812C>T	VUS	1 lab	503e78e847
3:38888498 SCN11A G>A	3	38888498	38888498	G	A	SCN11A	c.5063C>T	NM_001349253.2	NP_001336182.1:p.(Ala1688Val)	NC_000003.11:g.38888498G>A	(Likely) benign	1 lab	50194379d7
21:43912910 RSPH1 C>T	21	43912910	43912910	C	T	RSPH1	c.232G>A	NM_080860.4	NP_543136.1:p.(Gly78Ser)	NC_000021.8:g.43912910C>T	VUS	1 lab	501dcfafb1
6:135774498 AHI1 A>G	6	135774498	135774498	A	G	AHI1	c.1421T>C	NM_001134831.2	NP_001128303.1:p.(Ile474Thr)	NC_000006.11:g.135774498A>G	VUS	1 lab	501e9bc0dd
1:144879090 PDE4DIP T>C	1	144879090	144879090	T	C	PDE4DIP	c.4558A>G	NM_001395426.1	NP_001382355.1:p.(Lys1520Glu)	NC_000001.10:g.144879090T>C	VUS	1 lab	501f2e158f
X:13797938 GPM6B G>A	X	13797938	13797938	G	A	GPM6B	c.696C>T	NM_001001995.3	NP_001001995.1:p.(Tyr232=)	NC_000023.10:g.13797938G>A	(Likely) benign	1 lab	501ff50176
X:30714193 GK G>C	X	30714193	30714193	G	C	GK	c.587G>C	NM_001205019.2	NP_001191948.1:p.(Cys196Ser)	NC_000023.10:g.30714193G>C	VUS	1 lab	5021bdc37d
11:22261187 ANO5 C>T	11	22261187	22261187	C	T	ANO5	c.835C>T	NM_213599.3	NP_998764.1:p.(Arg279Ter)	NC_000011.9:g.22261187C>T	(Likely) pathogenic	1 lab	1fd3accf5f
4:123184097 BLTP1 G>T	4	123184097	123184097	G	T	BLTP1	c.6941G>T	NM_001384125.1	NP_001371054.1:p.(Arg2314Ile)	NC_000004.11:g.123184097G>T	VUS	1 lab	5022aa722d
7:40085568 CDK13 TAAG>T	7	40085568	40085576	TAAG	T	CDK13	c.2493_2495del	NM_003718.5	NP_003709.3:p.(Lys831del)	NC_000007.13:g.40085574_40085576del	VUS	1 lab	5022e93ac6
4:88536917 DSPP G>A	4	88536917	88536917	G	A	DSPP	c.3103G>A	NM_014208.3	NP_055023.2:p.(Asp1035Asn)	NC_000004.11:g.88536917G>A	(Likely) benign	1 lab	5026eb1810
14:58949223 KIAA0586 A>T	14	58949223	58949223	A	T	KIAA0586	c.2945-8A>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.58949223A>T	(Likely) benign	1 lab	502743dbe7
11:108172424 ATM A>C	11	108172424	108172424	A	C	ATM	c.5227A>C	NM_000051.4	NP_000042.3:p.(Thr1743Pro)	NC_000011.9:g.108172424A>C	VUS	1 lab	50275c55bb
1:237813223 RYR2 T>G	1	237813223	237813223	T	G	RYR2	c.7559T>G	NM_001035.3	NP_001026.2:p.(Leu2520Arg)	NC_000001.10:g.237813223T>G	VUS	1 lab	1fd4e0a86c
8:2040288 MYOM2 G>A	8	2040288	2040288	G	A	MYOM2	c.1943G>A	NM_003970.4	NP_003961.3:p.(Cys648Tyr)	NC_000008.10:g.2040288G>A	(Likely) benign	1 lab	2079ebcd2b
14:20813163 PARP2 G>A	14	20813163	20813163	G	A	PARP2	c.119G>A	NM_001042618.2	NP_001036083.1:p.(Arg40His)	NC_000014.8:g.20813163G>A	VUS	1 lab	50285ac9c0
11:2940542 SLC67A1 T>C	11	2940542	2940542	T	C	SLC67A1	c.769T>C	NM_002555.6	NP_002546.3:p.(Phe257Leu)	NC_000011.9:g.2940542T>C	VUS	1 lab	502aacb4b3
3:111368628 CD96 C>A	3	111368628	111368628	C	A	CD96	c.1685C>A	NM_005816.5	NP_005807.1:p.(Pro562His)	NC_000003.11:g.111368628C>A	(Likely) benign	1 lab	502c12d302
14:105846105 PACS2 G>A	14	105846105	105846105	G	A	PACS2	c.989G>A	NM_001100913.3	NP_001094383.2:p.(Ser330Asn)	NC_000014.8:g.105846105G>A	(Likely) benign	1 lab	502c97f2d1
9:116971982 COL27A1 G>A	9	116971982	116971982	G	A	COL27A1	c.2296G>A	NM_032888.4	NP_116277.2:p.(Gly766Ser)	NC_000009.11:g.116971982G>A	(Likely) pathogenic	1 lab	502cc0da05
12:116421091 MED13L T>C	12	116421091	116421091	T	C	MED13L	c.4786A>G	NM_015335.5	NP_056150.1:p.(Ile1596Val)	NC_000012.11:g.116421091T>C	VUS	1 lab	502df36055
6:154732169 CNKSR3 C>T	6	154732169	154732169	C	T	CNKSR3	c.1178G>A	NM_173515.4	NP_775786.2:p.(Arg393Gln)	NC_000006.11:g.154732169C>T	(Likely) benign	1 lab	502e346056
3:170724960 SLC2A2 C>T	3	170724960	170724960	C	T	SLC2A2	c.589G>A	NM_000340.2	NP_000331.1:p.(Val197Ile)	NC_000003.11:g.170724960C>T	VUS	1 lab	502fc204fd
1:35250631 GJB3 C>A	1	35250631	35250631	C	A	GJB3	c.268C>A	NM_024009.3	NP_076872.1:p.(Leu90Met)	NC_000001.10:g.35250631C>A	VUS	1 lab	503065e366
22:42463260 NAGA G>A	22	42463260	42463260	G	A	NAGA	c.359C>T	NM_000262.3	NP_000253.1:p.(Ala120Val)	NC_000022.10:g.42463260G>A	VUS	1 lab	504ad176a9
4:183675734 TENM3 C>T	4	183675734	183675734	C	T	TENM3	c.4214C>T	NM_001080477.4	NP_001073946.1:p.(Ala1405Val)	NC_000004.11:g.183675734C>T	VUS	1 lab	5031c17bd9
9:34338855 NUDT2 T>C	9	34338855	34338855	T	C	NUDT2	c.-17+10T>C	NM_001161.5	NP_001152.1:p.?	NC_000009.11:g.34338855T>C	(Likely) benign	1 lab	50321d197f
17:17699081 RAI1 G>A	17	17699081	17699081	G	A	RAI1	c.2819G>A	NM_030665.4	NP_109590.3:p.(Ser940Asn)	NC_000017.10:g.17699081G>A	VUS	1 lab	5033447db1
16:30215182 SULT1A3 G>A	16	30215182	30215182	G	A	SULT1A3	c.829G>A	NM_177552.4	NP_808220.1:p.(Asp277Asn)	NC_000016.9:g.30215182G>A	VUS	1 lab	50335b041b
13:106125005 DAOA G>A	13	106125005	106125005	G	A	DAOA	c.252G>A	NM_172370.5	NP_758958.3:p.(Trp84Ter)	NC_000013.10:g.106125005G>A	VUS	1 lab	5033d5468d
2:166737176 TTC21B T>C	2	166737176	166737176	T	C	TTC21B	c.3805+13A>G	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166737176T>C	(Likely) benign	1 lab	32e1e2aa72
22:27019199 CRYBA4 T>C	22	27019199	27019199	T	C	CRYBA4	c.41T>C	NM_001886.3	NP_001877.1:p.(Met14Thr)	NC_000022.10:g.27019199T>C	VUS	1 lab	50348a22ed
19:3979338 EEF2 T>C	19	3979338	3979338	T	C	EEF2	c.1702A>G	NM_001961.4	NP_001952.1:p.(Ile568Val)	NC_000019.9:g.3979338T>C	(Likely) benign	1 lab	5037734f05
X:24329793 SUPT20HL2 C>T	X	24329793	24329793	C	T	SUPT20HL2	c.1640G>A	NM_001136233.3	NP_001129705.3:p.(Arg547His)	NC_000023.10:g.24329793C>T	(Likely) benign	1 lab	50390dbb62
13:115067327 UPF3A C>T	13	115067327	115067327	C	T	UPF3A	c.1129C>T	NM_023011.4	NP_075387.1:p.(Arg377Trp)	NC_000013.10:g.115067327C>T	VUS	1 lab	503b8efaa5
8:143958493 CYP11B1 G>A	8	143958493	143958493	G	A	CYP11B1	c.541C>T	NM_000497.4	NP_000488.3:p.(Arg181Trp)	NC_000008.10:g.143958493G>A	VUS	1 lab	503bc256a5
5:127627260 FBN2 G>A	5	127627260	127627260	G	A	FBN2	c.6253C>T	NM_001999.4	NP_001990.2:p.(Pro2085Ser)	NC_000005.9:g.127627260G>A	VUS	1 lab	503c64e4bc
19:53761776 VN1R2 G>A	19	53761776	53761776	G	A	VN1R2	c.148G>A	NM_173856.2	NP_776255.2:p.(Val50Ile)	NC_000019.9:g.53761776G>A	(Likely) benign	1 lab	503c773bbd
22:45691574 UPK3A G>A	22	45691574	45691574	G	A	UPK3A	c.838G>A	NM_006953.4	NP_008884.1:p.(Val280Met)	NC_000022.10:g.45691574G>A	(Likely) benign	1 lab	503da5c5ca
17:75488797 SEPTIN9 G>C	17	75488797	75488797	G	C	SEPTIN9	c.1475G>C	NM_001113491.2	NP_001106963.1:p.(Arg492Pro)	NC_000017.10:g.75488797G>C	VUS	1 lab	503dbad8d8
2:73678681 ALMS1 A>G	2	73678681	73678681	A	G	ALMS1	c.5027A>G	NM_001378454.1	NP_001365383.1:p.(Gln1676Arg)	NC_000002.11:g.73678681A>G	(Likely) benign	1 lab	503e1ca9ba
10:61865807 ANK3 C>T	10	61865807	61865807	C	T	ANK3	c.3184G>A	NM_020987.5	NP_066267.2:p.(Val1062Met)	NC_000010.10:g.61865807C>T	(Likely) benign	1 lab	503e734449
14:75904614 JDP2 T>C	14	75904614	75904614	T	C	JDP2	c.-10T>C	NM_001135048.2	NP_001128520.1:p.?	NC_000014.8:g.75904614T>C	VUS	1 lab	503e983aa9
3:142275399 ATR C>T	3	142275399	142275399	C	T	ATR	c.1904G>A	NM_001184.4	NP_001175.2:p.(Arg635Gln)	NC_000003.11:g.142275399C>T	VUS	1 lab	1fd9bd4471
X:53264065 IQSEC2 T>G	X	53264065	53264065	T	G	IQSEC2	c.3803A>C	NM_001111125.3	NP_001104595.1:p.(His1268Pro)	NC_000023.10:g.53264065T>G	(Likely) benign	1 lab	503edc2626
18:19076524 GREB1L C>T	18	19076524	19076524	C	T	GREB1L	c.3256C>T	NM_001142966.3	NP_001136438.1:p.(Arg1086Trp)	NC_000018.9:g.19076524C>T	VUS	1 lab	503f36459f
13:25480768 CPAP G>C	13	25480768	25480768	G	C	CPAP	c.1408C>G	NM_018451.5	NP_060921.3:p.(Pro470Ala)	NC_000013.10:g.25480768G>C	(Likely) benign	1 lab	50411c691b
17:78185942 SGSH G>A	17	78185942	78185942	G	A	SGSH	c.877C>T	NM_000199.5	NP_000190.1:p.(Pro293Ser)	NC_000017.10:g.78185942G>A	(Likely) pathogenic	1 lab	1fdef6ccc2
14:92436219 TRIP11 G>C	14	92436219	92436219	G	C	TRIP11	c.5738C>G	NM_004239.4	NP_004230.2:p.(Ser1913Cys)	NC_000014.8:g.92436219G>C	(Likely) benign	1 lab	5041b803c5
16:19627516 VPS35L A>G	16	19627516	19627516	A	G	VPS35L	c.1101+3A>G	NM_020314.7	NP_064710.5:p.?	NC_000016.9:g.19627516A>G	VUS	1 lab	5041d59ce4
8:105405062 DPYS G>A	8	105405062	105405062	G	A	DPYS	c.1393C>T	NM_001385.3	NP_001376.1:p.(Arg465Ter)	NC_000008.10:g.105405062G>A	(Likely) pathogenic	1 lab	5042384df6
1:120612040 NOTCH2 T>TCCGCCG	1	120612040	120612060	T	TCCGCCG	NOTCH2	c.-26_-21dup	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612055_120612060dup	(Likely) benign	1 lab	5042c60cae
16:88799805 PIEZO1 G>A	16	88799805	88799805	G	A	PIEZO1	c.2545C>T	NM_001142864.4	NP_001136336.2:p.(Arg849Cys)	NC_000016.9:g.88799805G>A	VUS	1 lab	504432295b
X:152959659 SLC6A8 GGAGATCTCT>G	X	152959659	152959669	GGAGATCTCT	G	SLC6A8	c.1331_1339del	NM_005629.4	NP_005620.1:p.(Glu444_Ser446del)	NC_000023.10:g.152959661_152959669del	VUS	1 lab	50443c8c09
4:984023 IDUA C>T	4	984023	984023	C	T	IDUA	c.299+2286C>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.984023C>T	VUS	1 lab	b3b942eeb0
4:122737325 EXOSC9 A>G	4	122737325	122737325	A	G	EXOSC9	c.1157-199A>G	NM_005033.3	NP_005024.2:p.?	NC_000004.11:g.122737325A>G	VUS	1 lab	504565fce7
12:56572770 SMARCC2 T>TGA	12	56572770	56572771	T	TGA	SMARCC2	c.1141+10_1141+11insTC	NM_001330288.2	NP_001317217.1:p.?	NC_000012.11:g.56572770_56572771insGA	VUS	1 lab	50462312e8
18:12348289 AFG3L2 A>G	18	12348289	12348289	A	G	AFG3L2	c.1646T>C	NM_006796.3	NP_006787.2:p.(Ile549Thr)	NC_000018.9:g.12348289A>G	VUS	1 lab	5046815aa2
X:17819722 RAI2 GGGAGTTGA>G	X	17819722	17819732	GGGAGTTGA	G	RAI2	c.401_408del	NM_021785.6	NP_068557.4:p.(Leu134ProfsTer49)	NC_000023.10:g.17819725_17819732del	VUS	1 lab	50487bcecb
5:170819911 NPM1 T>C	5	170819911	170819911	T	C	NPM1	c.460-7T>C	NM_002520.7	NP_002511.1:p.?	NC_000005.9:g.170819911T>C	(Likely) benign	1 lab	5048815434
3:44852353 KIF15 A>G	3	44852353	44852353	A	G	KIF15	c.1987A>G	NM_020242.3	NP_064627.1:p.(Thr663Ala)	NC_000003.11:g.44852353A>G	VUS	1 lab	50488a00f9
18:67781701 RTTN A>C	18	67781701	67781701	A	C	RTTN	c.3663T>G	NM_173630.4	NP_775901.3:p.(Asn1221Lys)	NC_000018.9:g.67781701A>C	(Likely) benign	1 lab	504905ba57
15:40558431 PAK6 G>A	15	40558431	40558431	G	A	PAK6	c.593G>A	NM_001395430.1	NP_001382359.1:p.(Cys198Tyr)	NC_000015.9:g.40558431G>A	VUS	1 lab	5049b8e96e
17:10368767 MYH4 A>G	17	10368767	10368767	A	G	MYH4	c.497T>C	NM_017533.2	NP_060003.2:p.(Met166Thr)	NC_000017.10:g.10368767A>G	(Likely) benign	1 lab	5049d9dffa
13:113699673 MCF2L G>A	13	113699673	113699673	G	A	MCF2L	c.367G>A	NM_001112732.3	NP_001106203.2:p.(Ala123Thr)	NC_000013.10:g.113699673G>A	(Likely) benign	1 lab	504a66b300
3:129285447 PLXND1 C>T	3	129285447	129285447	C	T	PLXND1	c.4114G>A	NM_015103.3	NP_055918.3:p.(Val1372Met)	NC_000003.11:g.129285447C>T	(Likely) benign	1 lab	504b5d726c
2:152348301 NEB A>G	2	152348301	152348301	A	G	NEB	c.25058-12T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152348301A>G	(Likely) benign	1 lab	504c247c56
20:21695202 PAX1 G>T	20	21695202	21695202	G	T	PAX1	c.*2G>T	NM_001257096.2	NP_001244025.1:p.?	NC_000020.10:g.21695202G>T	VUS	1 lab	504c5613af
19:17918785 B3GNT3 G>A	19	17918785	17918785	G	A	B3GNT3	c.169G>A	NM_014256.4	NP_055071.2:p.(Ala57Thr)	NC_000019.9:g.17918785G>A	(Likely) benign	1 lab	504ce715f3
2:179616762 TTN T>A	2	179616762	179616762	T	A	TTN	c.11311+1089A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616762T>A	(Likely) benign	1 lab	504e1fa9de
17:10555781 MYH3 C>T	17	10555781	10555781	C	T	MYH3	c.304G>A	NM_002470.4	NP_002461.2:p.(Val102Met)	NC_000017.10:g.10555781C>T	VUS	1 lab	504fd75818
11:103194606 DYNC2H1 A>G	11	103194606	103194606	A	G	DYNC2H1	c.11935-8A>G	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103194606A>G	(Likely) benign	1 lab	505040e5ba
11:17632279 OTOG C>T	11	17632279	17632279	C	T	OTOG	c.5432C>T	NM_001292063.2	NP_001278992.1:p.(Ala1811Val)	NC_000011.9:g.17632279C>T	VUS	1 lab	50512edb6b
14:21875110 CHD8 G>A	14	21875110	21875110	G	A	CHD8	c.2812C>T	NM_001170629.2	NP_001164100.1:p.(Arg938Cys)	NC_000014.8:g.21875110G>A	(Likely) benign	1 lab	505434e397
1:153658296 NPR1 C>T	1	153658296	153658296	C	T	NPR1	c.1620C>T	NM_000906.4	NP_000897.3:p.(Tyr540=)	NC_000001.10:g.153658296C>T	VUS	1 lab	5054c7d005
22:38525511 PLA2G6 G>A	22	38525511	38525511	G	A	PLA2G6	c.1136C>T	NM_003560.4	NP_003551.2:p.(Pro379Leu)	NC_000022.10:g.38525511G>A	VUS	1 lab	50565b913c
15:61521356 RORA T>G	15	61521356	61521356	T	G	RORA	c.62A>C	NM_134261.3	NP_599023.1:p.(Asp21Ala)	NC_000015.9:g.61521356T>G	(Likely) benign	1 lab	5057b049ff
X:23693226 PRDX4 C>T	X	23693226	23693226	C	T	PRDX4	c.476+3C>T	NM_006406.2	NP_006397.1:p.?	NC_000023.10:g.23693226C>T	(Likely) benign	1 lab	505abe3b69
X:130408773 IGSF1 C>T	X	130408773	130408773	C	T	IGSF1	c.3551G>A	NM_001555.5	NP_001546.2:p.(Arg1184Gln)	NC_000023.10:g.130408773C>T	VUS	1 lab	505be0cb56
19:4101119 MAP2K2 G>A	19	4101119	4101119	G	A	MAP2K2	c.603C>T	NM_030662.4	NP_109587.1:p.(Leu201=)	NC_000019.9:g.4101119G>A	(Likely) benign	1 lab	505bf95353
1:181680082 CACNA1E G>T	1	181680082	181680082	G	T	CACNA1E	c.1056-8G>T	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181680082G>T	(Likely) benign	1 lab	505d2278bd
1:224621792 WDR26 C>T	1	224621792	224621792	C	T	WDR26	c.316G>A	NM_001379403.1	NP_001366332.1:p.(Ala106Thr)	NC_000001.10:g.224621792C>T	(Likely) benign	1 lab	505e0e387c
5:77745862 SCAMP1 G>GT	5	77745862	77745873	G	GT	SCAMP1	c.734+16dup	NM_004866.6	NP_004857.4:p.?	NC_000005.9:g.77745873dup	(Likely) benign	1 lab	505e469948
13:32911909 BRCA2 G>T	13	32911909	32911909	G	T	BRCA2	c.3417G>T	NM_000059.4	NP_000050.3:p.(Lys1139Asn)	NC_000013.10:g.32911909G>T	VUS	1 lab	505f356b6f
X:138623358 F9 T>G	X	138623358	138623358	T	G	F9	c.391+10T>G	NM_000133.4	NP_000124.1:p.?	NC_000023.10:g.138623358T>G	(Likely) benign	1 lab	505f4a199d
2:65561889 SPRED2 C>T	2	65561889	65561889	C	T	SPRED2	c.223G>A	NM_181784.3	NP_861449.2:p.(Val75Ile)	NC_000002.11:g.65561889C>T	(Likely) benign	1 lab	505f58fe5f
16:88789702 PIEZO1 G>A	16	88789702	88789702	G	A	PIEZO1	c.4370C>T	NM_001142864.4	NP_001136336.2:p.(Ala1457Val)	NC_000016.9:g.88789702G>A	(Likely) benign	1 lab	5061edb269
9:135946935 CEL G>A	9	135946935	135946935	G	A	CEL	c.2046G>A	NM_001807.6	NP_001798.3:p.(Pro682=)	NC_000009.11:g.135946935G>A	(Likely) benign	1 lab	5062067826
19:49120684 RPL18 G>A	19	49120684	49120684	G	A	RPL18	c.91-4C>T	NM_000979.4	NP_000970.1:p.?	NC_000019.9:g.49120684G>A	(Likely) benign	1 lab	50631a5aa6
5:172745090 STC2 G>C	5	172745090	172745090	G	C	STC2	c.669C>G	NM_003714.3	NP_003705.1:p.(Pro223=)	NC_000005.9:g.172745090G>C	(Likely) benign	1 lab	5067547ce3
2:215674388 BARD1 G>C	2	215674388	215674388	G	C	BARD1	c.-95C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674388G>C	VUS	1 lab	506978ce3f
14:29236598 FOXG1 GCCA>G	14	29236598	29236605	GCCA	G	FOXG1	c.118_120del	NM_005249.5	NP_005240.3:p.(His40del)	NC_000014.8:g.29236603_29236605del	VUS	1 lab	1fe9c50791
2:54127040 PSME4 C>T	2	54127040	54127040	C	T	PSME4	c.3400G>A	NM_014614.3	NP_055429.2:p.(Glu1134Lys)	NC_000002.11:g.54127040C>T	(Likely) benign	1 lab	506afaf5da
6:49696536 CRISP3 G>C	6	49696536	49696536	G	C	CRISP3	c.684C>G	NM_006061.4	NP_006052.2:p.(Asn228Lys)	NC_000006.11:g.49696536G>C	VUS	1 lab	506c6d58d4
12:31254790 DDX11 C>T	12	31254790	31254790	C	T	DDX11	c.2076C>T	NM_030653.4	NP_085911.2:p.(Leu692=)	NC_000012.11:g.31254790C>T	VUS	1 lab	506f9f0fc3
1:17249219 CROCC A>G	1	17249219	17249219	A	G	CROCC	c.122A>G	NM_014675.5	NP_055490.4:p.(Asp41Gly)	NC_000001.10:g.17249219A>G	VUS	1 lab	507050c26d
15:75981147 CSPG4 G>GT	15	75981147	75981148	G	GT	CSPG4	c.2258dup	NM_001897.5	NP_001888.2:p.(Tyr753Ter)	NC_000015.9:g.75981148dup	VUS	1 lab	507422be76
22:50658195 TUBGCP6 G>A	22	50658195	50658195	G	A	TUBGCP6	c.4193C>T	NM_020461.4	NP_065194.3:p.(Pro1398Leu)	NC_000022.10:g.50658195G>A	VUS	1 lab	1fe9d751e1
11:17419907 ABCC8 G>A	11	17419907	17419907	G	A	ABCC8	c.3732C>T	NM_000352.6	NP_000343.2:p.(Asn1244=)	NC_000011.9:g.17419907G>A	(Likely) benign	1 lab	5074d633d2
17:72939787 OTOP3 C>G	17	72939787	72939787	C	G	OTOP3	c.719C>G	NM_001272005.2	NP_001258934.1:p.(Ala240Gly)	NC_000017.10:g.72939787C>G	VUS	1 lab	5078533ba8
8:30703691 TEX15 G>C	8	30703691	30703691	G	C	TEX15	c.3992C>G	NM_001350162.2	NP_001337091.1:p.(Thr1331Ser)	NC_000008.10:g.30703691G>C	(Likely) benign	1 lab	507a7d60b1
2:179411455 TTN T>C	2	179411455	179411455	T	C	TTN	c.94700A>G	NM_001267550.2	NP_001254479.2:p.(Asn31567Ser)	NC_000002.11:g.179411455T>C	VUS	1 lab	507b0ae96f
9:14851703 FREM1 G>A	9	14851703	14851703	G	A	FREM1	c.829-98C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14851703G>A	(Likely) benign	1 lab	20882cc515
21:47754400 PCNT G>T	21	47754400	47754400	G	T	PCNT	c.357G>T	NM_006031.6	NP_006022.3:p.(Met119Ile)	NC_000021.8:g.47754400G>T	(Likely) benign	1 lab	507c70ce6f
8:53025828 ST18 C>T	8	53025828	53025828	C	T	ST18	c.3074G>A	NM_001352837.2	NP_001339766.1:p.(Arg1025Gln)	NC_000008.10:g.53025828C>T	(Likely) benign	1 lab	507f067c96
7:157175056 DNAJB6 T>A	7	157175056	157175056	T	A	DNAJB6	c.463T>A	NM_058246.4	NP_490647.1:p.(Ser155Thr)	NC_000007.13:g.157175056T>A	(Likely) benign	1 lab	5080111549
9:34249958 UBAP1 A>G	9	34249958	34249958	A	G	UBAP1	c.1265A>G	NM_016525.5	NP_057609.2:p.(Gln422Arg)	NC_000009.11:g.34249958A>G	VUS	1 lab	5080b63071
17:7793916 CHD3 C>G	17	7793916	7793916	C	G	CHD3	c.241C>G	NM_001005273.3	NP_001005273.1:p.(Arg81Gly)	NC_000017.10:g.7793916C>G	(Likely) benign	1 lab	508139f34f
11:15222430 INSC C>T	11	15222430	15222430	C	T	INSC	c.754C>T	NM_001042536.3	NP_001036001.1:p.(Pro252Ser)	NC_000011.9:g.15222430C>T	(Likely) benign	1 lab	508396364f
10:90695104 ACTA2 C>T	10	90695104	90695104	C	T	ACTA2	c.1010G>A	NM_001613.2	NP_001604.1:p.(Arg337His)	NC_000010.10:g.90695104C>T	VUS	1 lab	208b95b590
1:154571067 ADAR C>T	1	154571067	154571067	C	T	ADAR	c.1602-6G>A	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154571067C>T	(Likely) benign	1 lab	208d308db3
15:63950887 HERC1 G>A	15	63950887	63950887	G	A	HERC1	c.9455C>T	NM_003922.4	NP_003913.3:p.(Ser3152Phe)	NC_000015.9:g.63950887G>A	(Likely) benign	1 lab	5086386ef2
15:33023098 GREM1 C>G	15	33023098	33023098	C	G	GREM1	c.207C>G	NM_013372.7	NP_037504.1:p.(Pro69=)	NC_000015.9:g.33023098C>G	(Likely) benign	1 lab	5086559d38
1:22159031 HSPG2 C>T	1	22159031	22159031	C	T	HSPG2	c.11164G>A	NM_005529.7	NP_005520.4:p.(Asp3722Asn)	NC_000001.10:g.22159031C>T	VUS	1 lab	508658517e
2:138722128 HNMT C>A	2	138722128	138722128	C	A	HNMT	c.67C>A	NM_006895.3	NP_008826.1:p.(Leu23Ile)	NC_000002.11:g.138722128C>A	VUS	1 lab	5086ab3704
2:62104046 CCT4 T>A	2	62104046	62104046	T	A	CCT4	c.777+9A>T	NM_006430.4	NP_006421.2:p.?	NC_000002.11:g.62104046T>A	VUS	1 lab	5087ca92c1
22:50885849 SBF1 ACT>A	22	50885849	50885853	ACT	A	SBF1	c.5483_5484del	NM_002972.4	NP_002963.2:p.(Glu1828ValfsTer24)	NC_000022.10:g.50885852_50885853del	(Likely) pathogenic	1 lab	508bfa5832
5:95084059 RHOBTB3 A>T	5	95084059	95084059	A	T	RHOBTB3	c.438A>T	NM_014899.4	NP_055714.3:p.(Pro146=)	NC_000005.9:g.95084059A>T	(Likely) benign	1 lab	508c06e769
10:101914679 ERLIN1 G>A	10	101914679	101914679	G	A	ERLIN1	c.763C>T	NM_006459.4	NP_006450.2:p.(Arg255Ter)	NC_000010.10:g.101914679G>A	VUS	1 lab	508c3c455f
14:21866026 CHD8 T>C	14	21866026	21866026	T	C	CHD8	c.5007A>G	NM_001170629.2	NP_001164100.1:p.(Ala1669=)	NC_000014.8:g.21866026T>C	(Likely) benign	1 lab	508c40f624
5:180057714 FLT4 C>T	5	180057714	180057714	C	T	FLT4	c.241G>A	NM_182925.5	NP_891555.2:p.(Val81Met)	NC_000005.9:g.180057714C>T	VUS	1 lab	508c5328da
9:135940511 CEL A>T	9	135940511	135940511	A	T	CEL	c.425A>T	NM_001807.6	NP_001798.3:p.(Asn142Ile)	NC_000009.11:g.135940511A>T	(Likely) benign	1 lab	508d257471
9:135946507 CEL C>T	9	135946507	135946507	C	T	CEL	c.1618C>T	NM_001807.6	NP_001798.3:p.(Arg540Cys)	NC_000009.11:g.135946507C>T	(Likely) benign	1 lab	508da3fdd7
10:47087710 NPY4R G>C	10	47087710	47087710	G	C	NPY4R	c.927G>C	NM_005972.6	NP_005963.4:p.(Leu309Phe)	NC_000010.10:g.47087710G>C	VUS	1 lab	508dfe8f2a
X:153187137 ARHGAP4 G>A	X	153187137	153187137	G	A	ARHGAP4	c.193C>T	NM_001666.5	NP_001657.3:p.(Arg65Trp)	NC_000023.10:g.153187137G>A	VUS	1 lab	50909cbaae
2:166786697 TTC21B C>T	2	166786697	166786697	C	T	TTC21B	c.1072G>A	NM_024753.5	NP_079029.3:p.(Val358Met)	NC_000002.11:g.166786697C>T	VUS	1 lab	5090d5322e
17:73746355 ITGB4 G>T	17	73746355	73746355	G	T	ITGB4	c.3474+6G>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73746355G>T	(Likely) benign	1 lab	50923345f8
3:180334123 CCDC39 G>T	3	180334123	180334123	G	T	CCDC39	c.2615C>A	NM_181426.2	NP_852091.1:p.(Thr872Lys)	NC_000003.11:g.180334123G>T	VUS	1 lab	5092ad46ad
10:124895693 HMX3 C>G	10	124895693	124895693	C	G	HMX3	c.127C>G	NM_001105574.2	NP_001099044.1:p.(Arg43Gly)	NC_000010.10:g.124895693C>G	(Likely) benign	1 lab	509535bb36
10:75394322 MYOZ1 G>T	10	75394322	75394322	G	T	MYOZ1	c.422C>A	NM_021245.4	NP_067068.1:p.(Ala141Asp)	NC_000010.10:g.75394322G>T	VUS	1 lab	5096f57d43
8:144999622 PLEC G>T	8	144999622	144999622	G	T	PLEC	c.4475C>A	NM_201384.3	NP_958786.1:p.(Ala1492Glu)	NC_000008.10:g.144999622G>T	VUS	1 lab	50974b0e0f
10:135113012 TUBGCP2 C>T	10	135113012	135113012	C	T	TUBGCP2	c.375G>A	NM_006659.4	NP_006650.1:p.(Ala125=)	NC_000010.10:g.135113012C>T	VUS	1 lab	50981fb1c9
15:81282113 MESD G>A	15	81282113	81282113	G	A	MESD	c.20C>T	NM_015154.3	NP_055969.1:p.(Ala7Val)	NC_000015.9:g.81282113G>A	(Likely) benign	1 lab	509b3eafb0
X:123514499 TENM1 G>A	X	123514499	123514499	G	A	TENM1	c.8086C>T	NM_001163278.2	NP_001156750.1:p.(Arg2696Trp)	NC_000023.10:g.123514499G>A	(Likely) benign	1 lab	509c4f0e4b
20:43052712 HNF4A A>G	20	43052712	43052712	A	G	HNF4A	c.947A>G	NM_000457.5	NP_000448.3:p.(Gln316Arg)	NC_000020.10:g.43052712A>G	VUS	1 lab	50a098fd2b
12:113602099 DDX54 G>A	12	113602099	113602099	G	A	DDX54	c.1720-9C>T	NM_024072.4	NP_076977.3:p.?	NC_000012.11:g.113602099G>A	(Likely) benign	1 lab	50a1923638
1:36028146 NCDN G>A	1	36028146	36028146	G	A	NCDN	c.1297G>A	NM_014284.3	NP_055099.1:p.(Glu433Lys)	NC_000001.10:g.36028146G>A	VUS	1 lab	50a1dc3a6f
10:87487797 GRID1 C>T	10	87487797	87487797	C	T	GRID1	c.1348G>A	NM_017551.3	NP_060021.1:p.(Val450Met)	NC_000010.10:g.87487797C>T	VUS	1 lab	50a267a24a
13:103398261 LRTM3 T>C	13	103398261	103398261	T	C	LRTM3	c.4786A>G	NM_001146197.3	NP_001139669.1:p.(Thr1596Ala)	NC_000013.10:g.103398261T>C	(Likely) benign	1 lab	50a27a81f2
18:43460116 EPG5 C>T	18	43460116	43460116	C	T	EPG5	c.5591G>A	NM_020964.3	NP_066015.2:p.(Ser1864Asn)	NC_000018.9:g.43460116C>T	(Likely) benign	1 lab	50a2b7809c
9:136522317 DBH T>C	9	136522317	136522317	T	C	DBH	c.1688T>C	NM_000787.4	NP_000778.3:p.(Met563Thr)	NC_000009.11:g.136522317T>C	VUS	1 lab	50a2c6277a
10:78839196 KCNMA1 G>A	10	78839196	78839196	G	A	KCNMA1	c.1593+43C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78839196G>A	(Likely) benign	1 lab	208e4f84a1
13:36239245 NBEA G>A	13	36239245	36239245	G	A	NBEA	c.8386G>A	NM_001385012.1	NP_001371941.1:p.(Val2796Ile)	NC_000013.10:g.36239245G>A	(Likely) benign	1 lab	50a3f743cf
2:128522847 WDR33 AG>A	2	128522847	128522850	AG	A	WDR33	c.379-5del	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128522850del	(Likely) benign	1 lab	50a4654c56
1:45116366 RNF220 C>T	1	45116366	45116366	C	T	RNF220	c.1630-10C>T	NM_018150.4	NP_060620.2:p.?	NC_000001.10:g.45116366C>T	(Likely) benign	1 lab	50a54a2fbe
2:179509351 TTN G>T	2	179509351	179509351	G	T	TTN	c.40409-8C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179509351G>T	VUS	1 lab	50a70db633
19:42775961 CIC C>T	19	42775961	42775961	C	T	CIC	c.26C>T	NM_001386298.1	NP_001373227.1:p.(Thr9Ile)	NC_000019.9:g.42775961C>T	VUS	1 lab	50a8dbfc69
9:75315433 TMC1 GAGA>G	9	75315433	75315446	GAGA	G	TMC1	c.247_249del	NM_138691.3	NP_619636.2:p.(Glu83del)	NC_000009.11:g.75315444_75315446del	(Likely) benign	1 lab	50a8e3a607
4:6288851 WFS1 TGAA>T	4	6288851	6288858	TGAA	T	WFS1	c.269_271del	NM_006005.3	NP_005996.2:p.(Glu90del)	NC_000004.11:g.6288856_6288858del	VUS	1 lab	50a939ef92
7:42005710 GLI3 G>A	7	42005710	42005710	G	A	GLI3	c.2961C>T	NM_000168.6	NP_000159.3:p.(Tyr987=)	NC_000007.13:g.42005710G>A	(Likely) benign	1 lab	208eafeb5a
2:241696840 KIF1A A>C	2	241696840	241696840	A	C	KIF1A	c.2754T>G	NM_001244008.2	NP_001230937.1:p.(Asp918Glu)	NC_000002.11:g.241696840A>C	(Likely) benign	1 lab	50a9dcf56f
5:180045875 FLT4 G>C	5	180045875	180045875	G	C	FLT4	c.2896C>G	NM_182925.5	NP_891555.2:p.(Leu966Val)	NC_000005.9:g.180045875G>C	VUS	1 lab	50af2cd7f8
20:33330993 NCOA6 A>T	20	33330993	33330993	A	T	NCOA6	c.3067T>A	NM_014071.5	NP_054790.2:p.(Ser1023Thr)	NC_000020.10:g.33330993A>T	(Likely) benign	1 lab	50b1695bc1
1:44604720 KLF18 T>TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC	1	44604720	44604745	T	TCTGGTTACCAGTGGAGGTCATCATATTCTGCCCCCCGTAGAGGGC	KLF18	c.2583_2584insGCCCTCTACGGGGGGCAGAATATGATGACCTCCACTGGTAACCAG	NM_001358438.1	NP_001345367.1:p.(Gln861_Asn862insAlaLeuTyrGlyGlyGlnAsnMetMetThrSerThrGlyAsnGln)	NC_000001.10:g.44604744_44604745insATTCTGCCCCCCGTAGAGGGCCTGGTTACCAGTGGAGGTCATCAT	VUS	1 lab	50b300c057
10:49929314 WDFY4 C>T	10	49929314	49929314	C	T	WDFY4	c.358C>T	NM_001394531.1	NP_001381460.1:p.(Arg120Trp)	NC_000010.10:g.49929314C>T	VUS	1 lab	50b4cdd0ba
1:43220534 P3H1 TCTCACCTTCCCGG>T	1	43220534	43220547	TCTCACCTTCCCGG	T	P3H1	c.1338_1345+5del	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43220535_43220547del	(Likely) pathogenic	1 lab	1ff97fe51c
X:49957118 AKAP4 T>C	X	49957118	49957118	T	C	AKAP4	c.2246A>G	NM_003886.3	NP_003877.2:p.(Gln749Arg)	NC_000023.10:g.49957118T>C	(Likely) benign	1 lab	50b5e0c766
X:12939293 TLR8 T>A	X	12939293	12939293	T	A	TLR8	c.2134T>A	NM_138636.5	NP_619542.1:p.(Ser712Thr)	NC_000023.10:g.12939293T>A	(Likely) benign	1 lab	50b5e78756
9:124062202 GSN G>C	9	124062202	124062202	G	C	GSN	c.-9-2039G>C	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062202G>C	(Likely) benign	1 lab	50b689f62a
2:170063646 LRP2 A>G	2	170063646	170063646	A	G	LRP2	c.6584T>C	NM_004525.3	NP_004516.2:p.(Ile2195Thr)	NC_000002.11:g.170063646A>G	VUS	1 lab	50b76d48af
20:44525639 CTSA G>A	20	44525639	44525639	G	A	CTSA	c.1124G>A	NM_000308.4	NP_000299.3:p.(Arg375Gln)	NC_000020.10:g.44525639G>A	VUS	1 lab	50b9313ce3
2:73800471 ALMS1 C>T	2	73800471	73800471	C	T	ALMS1	c.11467C>T	NM_001378454.1	NP_001365383.1:p.(Arg3823Trp)	NC_000002.11:g.73800471C>T	VUS	1 lab	50ba50b738
15:31283667 MTMR10 G>A	15	31283667	31283667	G	A	MTMR10	c.43C>T	NM_017762.3	NP_060232.2:p.(Leu15Phe)	NC_000015.9:g.31283667G>A	(Likely) benign	1 lab	50bab911f4
1:179013283 FAM20B G>A	1	179013283	179013283	G	A	FAM20B	c.301G>A	NM_014864.4	NP_055679.1:p.(Val101Met)	NC_000001.10:g.179013283G>A	VUS	1 lab	50bac0f50d
1:43218314 P3H1 C>T	1	43218314	43218314	C	T	P3H1	c.1367G>A	NM_022356.4	NP_071751.3:p.(Gly456Asp)	NC_000001.10:g.43218314C>T	(Likely) benign	1 lab	50bb127544
19:47285706 SLC1A5 T>A	19	47285706	47285706	T	A	SLC1A5	c.758A>T	NM_005628.3	NP_005619.1:p.(Glu253Val)	NC_000019.9:g.47285706T>A	VUS	1 lab	50bbf3f6af
12:12291460 LRP6 G>A	12	12291460	12291460	G	A	LRP6	c.3406C>T	NM_002336.3	NP_002327.2:p.(Arg1136Trp)	NC_000012.11:g.12291460G>A	(Likely) benign	1 lab	50bd550647
3:12458334 PPARG C>T	3	12458334	12458334	C	T	PPARG	c.861C>T	NM_138711.6	NP_619725.3:p.(Ser287=)	NC_000003.11:g.12458334C>T	(Likely) benign	1 lab	50beddf263
19:12786879 DHPS G>A	19	12786879	12786879	G	A	DHPS	c.966C>T	NM_001930.4	NP_001921.1:p.(Asp322=)	NC_000019.9:g.12786879G>A	(Likely) benign	1 lab	50beff2604
8:101541754 ANKRD46 A>G	8	101541754	101541754	A	G	ANKRD46	c.308T>C	NM_001270377.2	NP_001257306.1:p.(Ile103Thr)	NC_000008.10:g.101541754A>G	VUS	1 lab	50c066c732
9:139735232 RABL6 G>A	9	139735232	139735232	G	A	RABL6	c.*258G>A	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139735232G>A	(Likely) benign	1 lab	50c20eb2ef
15:40698503 IVD C>A	15	40698503	40698503	C	A	IVD	c.144+331C>A	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40698503C>A	(Likely) benign	1 lab	50c3151153
10:129907082 MKI67 G>A	10	129907082	129907082	G	A	MKI67	c.3022C>T	NM_002417.5	NP_002408.3:p.(Gln1008Ter)	NC_000010.10:g.129907082G>A	VUS	1 lab	50c3236f3c
16:89043142 CBFA2T3 G>A	16	89043142	89043142	G	A	CBFA2T3	c.74C>T	NM_005187.6	NP_005178.4:p.(Thr25Met)	NC_000016.9:g.89043142G>A	(Likely) benign	1 lab	50c4fa3bd2
7:40027662 CDK13 A>G	7	40027662	40027662	A	G	CDK13	c.1676A>G	NM_003718.5	NP_003709.3:p.(Lys559Arg)	NC_000007.13:g.40027662A>G	(Likely) benign	1 lab	50c62621f8
16:53675379 RPGRIP1L C>CA	16	53675379	53675382	C	CA	RPGRIP1L	c.2691dup	NM_015272.5	NP_056087.2:p.(Glu898Ter)	NC_000016.9:g.53675382dup	(Likely) pathogenic	1 lab	50c7153556
16:396727 AXIN1 C>T	16	396727	396727	C	T	AXIN1	c.299G>A	NM_003502.4	NP_003493.1:p.(Ser100Asn)	NC_000016.9:g.396727C>T	(Likely) benign	1 lab	50c8830c25
6:39835482 DAAM2 C>G	6	39835482	39835482	C	G	DAAM2	c.625C>G	NM_001201427.2	NP_001188356.1:p.(Arg209Gly)	NC_000006.11:g.39835482C>G	VUS	1 lab	50c924ef8d
7:6509297 KDELR2 C>T	7	6509297	6509297	C	T	KDELR2	c.281G>A	NM_006854.4	NP_006845.1:p.(Arg94Gln)	NC_000007.13:g.6509297C>T	(Likely) benign	1 lab	50c95dc33c
8:56985781 RPS20 C>T	8	56985781	56985781	C	T	RPS20	c.228G>A	NM_001023.4	NP_001014.1:p.(Thr76=)	NC_000008.10:g.56985781C>T	(Likely) benign	1 lab	50cb4f0b1b
2:179417037 TTN T>C	2	179417037	179417037	T	C	TTN	c.85667A>G	NM_001256850.1	NP_001243779.1:p.(Glu28556Gly)	NC_000002.11:g.179417037T>C	VUS	1 lab	1ff9972e12
19:42857077 MEGF8 C>T	19	42857077	42857077	C	T	MEGF8	c.3351-3C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42857077C>T	(Likely) benign	1 lab	50ccc0c6eb
12:121440305 HNF1A T>C	12	121440305	121440305	T	C	HNF1A	c.*1310T>C	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121440305T>C	VUS	1 lab	50cf6c883a
20:62320409 RTEL1 C>G	20	62320409	62320409	C	G	RTEL1	c.1802C>G	NM_001283009.2	NP_001269938.1:p.(Thr601Ser)	NC_000020.10:g.62320409C>G	(Likely) benign	1 lab	50cfce9eac
5:176709580 NSD1 AAAGT>A	5	176709580	176709590	AAAGT	A	NSD1	c.6009+5_6009+8del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176709587_176709590del	(Likely) pathogenic	1 lab	209215aae6
16:89529407 ANKRD11 TG>T	16	89529407	89529414	TG	T	ANKRD11	c.-145+27245del	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89529414del	(Likely) benign	1 lab	50db03fbd1
6:88255416 RARS2 T>TG	6	88255416	88255417	T	TG	RARS2	c.452_453insC	NM_020320.5	NP_064716.2:p.(Asn152LysfsTer40)	NC_000006.11:g.88255416_88255417insG	VUS	1 lab	50cff6f676
10:23481728 PTF1A G>C	10	23481728	23481728	G	C	PTF1A	c.269G>C	NM_178161.3	NP_835455.1:p.(Gly90Ala)	NC_000010.10:g.23481728G>C	(Likely) benign	1 lab	50d23392c8
14:39530994 SEC23A T>C	14	39530994	39530994	T	C	SEC23A	c.1480A>G	NM_006364.4	NP_006355.2:p.(Ile494Val)	NC_000014.8:g.39530994T>C	VUS	1 lab	50d2c62569
9:135946366 CEL C>T	9	135946366	135946366	C	T	CEL	c.1485-8C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135946366C>T	(Likely) benign	1 lab	50d39de68e
8:145742794 RECQL4 G>A	8	145742794	145742794	G	A	RECQL4	c.213+4C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145742794G>A	(Likely) benign	1 lab	50d4167f1d
10:112771407 SHOC2 A>G	10	112771407	112771407	A	G	SHOC2	c.1580A>G	NM_007373.4	NP_031399.2:p.(Asn527Ser)	NC_000010.10:g.112771407A>G	(Likely) benign	1 lab	50d428b517
3:42544232 VIPR1 G>A	3	42544232	42544232	G	A	VIPR1	c.5G>A	NM_004624.4	NP_004615.2:p.(Arg2His)	NC_000003.11:g.42544232G>A	(Likely) benign	1 lab	50d5154a43
12:21926399 KCNJ8 C>T	12	21926399	21926399	C	T	KCNJ8	c.152G>A	NM_004982.4	NP_004973.1:p.(Arg51His)	NC_000012.11:g.21926399C>T	VUS	1 lab	50d5d318de
1:173570818 SLC9C2 G>A	1	173570818	173570818	G	A	SLC9C2	c.98C>T	NM_178527.4	NP_848622.2:p.(Thr33Met)	NC_000001.10:g.173570818G>A	(Likely) benign	1 lab	50d5e84acd
19:40384125 FCGBP G>A	19	40384125	40384125	G	A	FCGBP	c.9485C>T	NM_003890.3	NP_003881.2:p.(Pro3162Leu)	NC_000019.9:g.40384125G>A	VUS	1 lab	50d6bc9b95
10:43287079 BMS1 C>T	10	43287079	43287079	C	T	BMS1	c.641C>T	NM_014753.4	NP_055568.3:p.(Ala214Val)	NC_000010.10:g.43287079C>T	VUS	1 lab	50d73ded11
X:49104695 CCDC22 G>A	X	49104695	49104695	G	A	CCDC22	c.1136G>A	NM_014008.5	NP_054727.1:p.(Arg379His)	NC_000023.10:g.49104695G>A	VUS	1 lab	50d7a5b62f
12:50492534 SMARCD1 G>A	12	50492534	50492534	G	A	SMARCD1	c.1430G>A	NM_003076.5	NP_003067.3:p.(Arg477His)	NC_000012.11:g.50492534G>A	VUS	1 lab	50d8ea14cf
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer40)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	50d9dd4d14
4:187542420 FAT1 T>C	4	187542420	187542420	T	C	FAT1	c.5320A>G	NM_005245.4	NP_005236.2:p.(Ile1774Val)	NC_000004.11:g.187542420T>C	(Likely) benign	1 lab	50dd05ffe8
16:2577870 AMDHD2 T>G	16	2577870	2577870	T	G	AMDHD2	c.512T>G	NM_001330449.2	NP_001317378.1:p.(Leu171Trp)	NC_000016.9:g.2577870T>G	VUS	1 lab	50de08c136
11:64066867 KCNK4 C>A	11	64066867	64066867	C	A	KCNK4	c.851C>A	NM_033310.3	NP_201567.1:p.(Ala284Glu)	NC_000011.9:g.64066867C>A	(Likely) benign	1 lab	50de8b07e8
8:70536371 SULF1 A>G	8	70536371	70536371	A	G	SULF1	c.1789A>G	NM_001128205.2	NP_001121677.1:p.(Arg597Gly)	NC_000008.10:g.70536371A>G	(Likely) benign	1 lab	50e0f69ee6
19:10745529 SLC44A2 G>A	19	10745529	10745529	G	A	SLC44A2	c.921G>A	NM_020428.4	NP_065161.3:p.(Val307=)	NC_000019.9:g.10745529G>A	(Likely) benign	1 lab	50e31c5f7d
X:69504449 RAB41 G>A	X	69504449	69504449	G	A	RAB41	c.625G>A	NM_001363807.1	NP_001350736.1:p.(Glu209Lys)	NC_000023.10:g.69504449G>A	VUS	1 lab	50e4aeac7f
7:27135041 HOXA1 T>C	7	27135041	27135041	T	C	HOXA1	c.491A>G	NM_005522.5	NP_005513.2:p.(Tyr164Cys)	NC_000007.13:g.27135041T>C	VUS	1 lab	50e50cda4e
16:2096383 NTHL1 C>T	16	2096383	2096383	C	T	NTHL1	c.116-16G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2096383C>T	VUS	1 lab	50e527d9e1
15:93521074 CHD2 G>A	15	93521074	93521074	G	A	CHD2	c.2578-390G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93521074G>A	VUS	1 lab	50e5299371
20:39977524 LPIN3 C>T	20	39977524	39977524	C	T	LPIN3	c.554C>T	NM_022896.3	NP_075047.1:p.(Pro185Leu)	NC_000020.10:g.39977524C>T	(Likely) benign	1 lab	50e6bcc9e0
20:34022106 GDF5 CACG>C	20	34022106	34022109	CACG	C	GDF5	c.1104_1106del	NM_000557.5	NP_000548.2:p.(Val369del)	NC_000020.10:g.34022107_34022109del	(Likely) pathogenic	1 lab	50e6dde6a4
3:37048546 MLH1 C>T	3	37048546	37048546	C	T	MLH1	c.445C>T	NM_000249.4	NP_000240.1:p.(Gln149Ter)	NC_000003.11:g.37048546C>T	(Likely) pathogenic	1 lab	50e74c125c
21:47422465 COL6A1 G>A	21	47422465	47422465	G	A	COL6A1	c.2275G>A	NM_001848.3	NP_001839.2:p.(Val759Met)	NC_000021.8:g.47422465G>A	(Likely) benign	1 lab	50e7e2881d
19:58868716 ZNF497 G>C	19	58868716	58868716	G	C	ZNF497	c.286C>G	NM_198458.3	NP_940860.2:p.(Arg96Gly)	NC_000019.9:g.58868716G>C	(Likely) benign	1 lab	50eac2475f
7:55990882 ZNF713 G>A	7	55990882	55990882	G	A	ZNF713	c.115G>A	NM_182633.3	NP_872439.2:p.(Val39Met)	NC_000007.13:g.55990882G>A	VUS	1 lab	51375862a1
X:123179222 STAG2 G>A	X	123179222	123179222	G	A	STAG2	c.667+4G>A	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123179222G>A	(Likely) benign	1 lab	50ee927cba
7:19156668 TWIST1 TGCCGCCGCCGCCGCCCGC>T	7	19156668	19156701	TGCCGCCGCCGCCGCCCGC	T	TWIST1	c.259_276del	NM_000474.4	NP_000465.1:p.(Ala87_Gly92del)	NC_000007.13:g.19156684_19156701del	(Likely) benign	1 lab	50efd53ddc
10:99258025 MMS19 C>A	10	99258025	99258025	C	A	MMS19	c.112+5G>T	NM_022362.5	NP_071757.4:p.?	NC_000010.10:g.99258025C>A	(Likely) benign	1 lab	50f083c55e
2:223158893 PAX3 G>T	2	223158893	223158893	G	T	PAX3	c.579C>A	NM_181458.4	NP_852123.1:p.(Ser193Arg)	NC_000002.11:g.223158893G>T	(Likely) benign	1 lab	50f085209e
X:37028209 FAM47C G>A	X	37028209	37028209	G	A	FAM47C	c.1726G>A	NM_001013736.3	NP_001013758.1:p.(Asp576Asn)	NC_000023.10:g.37028209G>A	(Likely) benign	1 lab	50f0a5144b
15:89402387 ACAN G>T	15	89402387	89402387	G	T	ACAN	c.6571G>T	NM_001369268.1	NP_001356197.1:p.(Ala2191Ser)	NC_000015.9:g.89402387G>T	(Likely) benign	1 lab	50f2717ead
15:59399563 CCNB2 AAAGTT>A	15	59399563	59399571	AAAGTT	A	CCNB2	c.71_75del	NM_004701.4	NP_004692.1:p.(Val24GlufsTer6)	NC_000015.9:g.59399567_59399571del	VUS	1 lab	50f3af7e4c
15:75664462 SIN3A G>A	15	75664462	75664462	G	A	SIN3A	c.3680C>T	NM_001145358.2	NP_001138830.1:p.(Ala1227Val)	NC_000015.9:g.75664462G>A	(Likely) benign	1 lab	50f3afae82
16:74443490 CLEC18B C>T	16	74443490	74443490	C	T	CLEC18B	c.1261G>A	NM_001385193.1	NP_001372122.1:p.(Asp421Asn)	NC_000016.9:g.74443490C>T	(Likely) benign	1 lab	50f46e0af6
X:21886620 MBTPS2 A>G	X	21886620	21886620	A	G	MBTPS2	c.706A>G	NM_015884.4	NP_056968.1:p.(Ile236Val)	NC_000023.10:g.21886620A>G	VUS	1 lab	50f65d9912
4:55561862 KIT G>T	4	55561862	55561862	G	T	KIT	c.252G>T	NM_000222.3	NP_000213.1:p.(Thr84=)	NC_000004.11:g.55561862G>T	(Likely) benign	1 lab	50f69d1c7e
12:49438046 KMT2D G>A	12	49438046	49438046	G	A	KMT2D	c.5125C>T	NM_003482.4	NP_003473.3:p.(Arg1709Cys)	NC_000012.11:g.49438046G>A	VUS	1 lab	50f6e8ce2f
5:137727041 KDM3B G>A	5	137727041	137727041	G	A	KDM3B	c.1720G>A	NM_016604.4	NP_057688.3:p.(Val574Ile)	NC_000005.9:g.137727041G>A	(Likely) benign	1 lab	50f83c7736
17:33904587 PEX12 G>GGT	17	33904587	33904590	G	GGT	PEX12	c.148_149dup	NM_000286.3	NP_000277.1:p.(His51ProfsTer17)	NC_000017.10:g.33904589_33904590dup	VUS	1 lab	50f8468678
17:74729588 METTL23 CTTTTT>C	17	74729588	74729599	CTTTTT	C	METTL23	c.408-8_408-4del	NM_001080510.5	NP_001073979.3:p.?	NC_000017.10:g.74729595_74729599del	VUS	1 lab	50f92c393b
21:46640748 ADARB1 C>T	21	46640748	46640748	C	T	ADARB1	c.1748-3C>T	NM_001112.4	NP_001103.1:p.?	NC_000021.8:g.46640748C>T	(Likely) benign	1 lab	50fd5b7f2c
7:100680296 MUC17 A>AC	7	100680296	100680297	A	AC	MUC17	c.5600dup	NM_001040105.2	NP_001035194.1:p.(Ala1868CysfsTer16)	NC_000007.13:g.100680297dup	(Likely) benign	1 lab	50fdba8884
11:46895100 LRP4 C>T	11	46895100	46895100	C	T	LRP4	c.4274G>A	NM_002334.4	NP_002325.2:p.(Arg1425Gln)	NC_000011.9:g.46895100C>T	VUS	1 lab	50fec516ca
14:99969249 CCNK G>GCAGCAGCCAGCC	14	99969249	99969263	G	GCAGCAGCCAGCC	CCNK	c.942_953dup	NM_001099402.2	NP_001092872.1:p.(Ala317_Pro320dup)	NC_000014.8:g.99969252_99969263dup	VUS	1 lab	5101a567bf
X:21958982 SMS G>C	X	21958982	21958982	G	C	SMS	c.40G>C	NM_004595.5	NP_004586.2:p.(Gly14Arg)	NC_000023.10:g.21958982G>C	VUS	1 lab	5101f5c025
2:47630409 MSH2 C>T	2	47630409	47630409	C	T	MSH2	c.79C>T	NM_000251.3	NP_000242.1:p.(Pro27Ser)	NC_000002.11:g.47630409C>T	VUS	1 lab	510261031f
16:88898513 GALNS G>C	16	88898513	88898513	G	C	GALNS	c.899-4C>G	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88898513G>C	(Likely) benign	1 lab	510367923f
11:17436042 ABCC8 C>G	11	17436042	17436042	C	G	ABCC8	c.2390+17G>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17436042C>G	(Likely) benign	1 lab	5103ffb19d
X:84363934 SATL1 G>A	X	84363934	84363934	G	A	SATL1	c.41C>T	NM_001367857.2	NP_001354786.1:p.(Ser14Leu)	NC_000023.10:g.84363934G>A	(Likely) benign	1 lab	5104563f7e
2:219754720 WNT10A G>A	2	219754720	219754720	G	A	WNT10A	c.391G>A	NM_025216.3	NP_079492.2:p.(Ala131Thr)	NC_000002.11:g.219754720G>A	(Likely) pathogenic	1 lab	20058a350c
8:126071780 WASHC5 T>C	8	126071780	126071780	T	C	WASHC5	c.1526A>G	NM_014846.4	NP_055661.3:p.(Gln509Arg)	NC_000008.10:g.126071780T>C	VUS	1 lab	5107e8bf72
1:103461594 COL11A1 G>A	1	103461594	103461594	G	A	COL11A1	c.2246C>T	NM_001854.4	NP_001845.3:p.(Pro749Leu)	NC_000001.10:g.103461594G>A	VUS	1 lab	5108970c6f
3:53535635 CACNA1D T>A	3	53535635	53535635	T	A	CACNA1D	c.378-7T>A	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53535635T>A	(Likely) benign	1 lab	510bdbf0c2
5:127668724 FBN2 C>T	5	127668724	127668724	C	T	FBN2	c.4102G>A	NM_001999.4	NP_001990.2:p.(Val1368Met)	NC_000005.9:g.127668724C>T	VUS	1 lab	510ce83d71
15:89398653 ACAN G>C	15	89398653	89398653	G	C	ACAN	c.2837G>C	NM_001369268.1	NP_001356197.1:p.(Gly946Ala)	NC_000015.9:g.89398653G>C	(Likely) benign	1 lab	510d8159c1
6:51918923 PKHD1 T>C	6	51918923	51918923	T	C	PKHD1	c.1877A>G	NM_138694.4	NP_619639.3:p.(Lys626Arg)	NC_000006.11:g.51918923T>C	(Likely) benign	1 lab	209c55888e
11:66062888 TMEM151A C>T	11	66062888	66062888	C	T	TMEM151A	c.1171C>T	NM_153266.4	NP_694998.1:p.(Pro391Ser)	NC_000011.9:g.66062888C>T	(Likely) benign	1 lab	511283db8b
1:43220661 P3H1 C>T	1	43220661	43220661	C	T	P3H1	c.1224G>A	NM_022356.4	NP_071751.3:p.(Lys408=)	NC_000001.10:g.43220661C>T	VUS	1 lab	5113fbe1df
11:46332740 CREB3L1 C>T	11	46332740	46332740	C	T	CREB3L1	c.753C>T	NM_052854.4	NP_443086.1:p.(His251=)	NC_000011.9:g.46332740C>T	(Likely) benign	1 lab	51151f9b52
2:54849555 SPTBN1 A>G	2	54849555	54849555	A	G	SPTBN1	c.995A>G	NM_003128.3	NP_003119.2:p.(Asn332Ser)	NC_000002.11:g.54849555A>G	(Likely) benign	1 lab	5115a31d6a
4:5803693 EVC C>T	4	5803693	5803693	C	T	EVC	c.2321C>T	NM_153717.3	NP_714928.1:p.(Ala774Val)	NC_000004.11:g.5803693C>T	(Likely) benign	1 lab	5115cbf4a7
3:11076382 SLC6A1 C>T	3	11076382	11076382	C	T	SLC6A1	c.1693C>T	NM_003042.4	NP_003033.3:p.(Gln565Ter)	NC_000003.11:g.11076382C>T	VUS	1 lab	511616e700
21:46320304 ITGB2 G>A	21	46320304	46320304	G	A	ITGB2	c.828C>T	NM_001127491.3	NP_001120963.2:p.(Gly276=)	NC_000021.8:g.46320304G>A	(Likely) benign	1 lab	0d6c6c951b
11:111910041 DLAT G>T	11	111910041	111910041	G	T	DLAT	c.1049G>T	NM_001931.5	NP_001922.2:p.(Gly350Val)	NC_000011.9:g.111910041G>T	(Likely) benign	1 lab	51189cb388
11:6630832 ILK C>T	11	6630832	6630832	C	T	ILK	c.818C>T	NM_001014795.3	NP_001014795.1:p.(Pro273Leu)	NC_000011.9:g.6630832C>T	VUS	1 lab	20a0d7ab4f
2:54712162 SPTBN1 C>A	2	54712162	54712162	C	A	SPTBN1	c.-48+28507C>A	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54712162C>A	VUS	1 lab	511a0edd60
7:92732981 SAMD9 CA>C	7	92732981	92732982	CA	C	SAMD9	c.2429del	NM_017654.4	NP_060124.2:p.(Leu810ArgfsTer9)	NC_000007.13:g.92732982del	VUS	1 lab	511ab7f726
1:160160791 CASQ1 C>T	1	160160791	160160791	C	T	CASQ1	c.250C>T	NM_001231.5	NP_001222.3:p.(Gln84Ter)	NC_000001.10:g.160160791C>T	VUS	1 lab	511be775f9
20:57466919 GNAS G>A	20	57466919	57466919	G	A	GNAS	c.138G>A	NM_000516.7	NP_000507.1:p.(Leu46=)	NC_000020.10:g.57466919G>A	VUS	1 lab	511d29309d
17:48265911 COL1A1 T>C	17	48265911	48265911	T	C	COL1A1	c.3187A>G	NM_000088.4	NP_000079.2:p.(Ser1063Gly)	NC_000017.10:g.48265911T>C	VUS	1 lab	511d6e8b68
10:76468163 ADK G>A	10	76468163	76468163	G	A	ADK	c.1049G>A	NM_006721.4	NP_006712.2:p.(Arg350Gln)	NC_000010.10:g.76468163G>A	VUS	1 lab	511d85f77b
5:54965589 SLC38A9 G>A	5	54965589	54965589	G	A	SLC38A9	c.365C>T	NM_173514.4	NP_775785.2:p.(Thr122Ile)	NC_000005.9:g.54965589G>A	VUS	1 lab	511dbeb45a
2:152551147 NEB G>C	2	152551147	152551147	G	C	NEB	c.1675-4C>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152551147G>C	(Likely) benign	1 lab	5120cd5b6a
9:113563143 MUSK G>T	9	113563143	113563143	G	T	MUSK	c.2485G>T	NM_005592.4	NP_005583.1:p.(Val829Leu)	NC_000009.11:g.113563143G>T	(Likely) benign	1 lab	5121d66fed
8:6479152 MCPH1 G>T	8	6479152	6479152	G	T	MCPH1	c.2392G>T	NM_024596.5	NP_078872.3:p.(Gly798Trp)	NC_000008.10:g.6479152G>T	VUS	1 lab	5121ebe4e4
1:152283488 FLG T>A	1	152283488	152283488	T	A	FLG	c.3874A>T	NM_002016.2	NP_002007.1:p.(Arg1292Ter)	NC_000001.10:g.152283488T>A	VUS	1 lab	51237818d9
14:91875045 CCDC88C C>G	14	91875045	91875045	C	G	CCDC88C	c.228G>C	NM_001080414.4	NP_001073883.2:p.(Gln76His)	NC_000014.8:g.91875045C>G	VUS	1 lab	5127c64776
18:14808661 ANKRD30B A>C	18	14808661	14808661	A	C	ANKRD30B	c.2314-10A>C	NM_001367607.2	NP_001354536.1:p.?	NC_000018.9:g.14808661A>C	(Likely) benign	1 lab	5127c69034
19:56133299 ZNF784 A>T	19	56133299	56133299	A	T	ZNF784	c.790T>A	NM_203374.2	NP_976308.1:p.(Ser264Thr)	NC_000019.9:g.56133299A>T	VUS	1 lab	5129017ee1
6:117203565 RFX6 G>A	6	117203565	117203565	G	A	RFX6	c.540G>A	NM_173560.4	NP_775831.2:p.(Arg180=)	NC_000006.11:g.117203565G>A	(Likely) benign	1 lab	512951f6b6
15:41228533 DLL4 G>A	15	41228533	41228533	G	A	DLL4	c.1348G>A	NM_019074.4	NP_061947.1:p.(Ala450Thr)	NC_000015.9:g.41228533G>A	(Likely) benign	1 lab	512a490901
8:145741191 RECQL4 C>T	8	145741191	145741191	C	T	RECQL4	c.1215G>A	NM_004260.4	NP_004251.4:p.(Leu405=)	NC_000008.10:g.145741191C>T	VUS	1 lab	512ae3ca50
4:944227 TMEM175 C>T	4	944227	944227	C	T	TMEM175	c.211C>T	NM_032326.4	NP_115702.1:p.(Gln71Ter)	NC_000004.11:g.944227C>T	VUS	1 lab	512d295b1d
6:51910998 PKHD1 G>T	6	51910998	51910998	G	T	PKHD1	c.2408-12C>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51910998G>T	(Likely) benign	1 lab	512fcf90d3
8:145730048 GPT G>A	8	145730048	145730048	G	A	GPT	c.224G>A	NM_005309.3	NP_005300.1:p.(Gly75Glu)	NC_000008.10:g.145730048G>A	VUS	1 lab	513039124a
17:65907400 BPTF G>A	17	65907400	65907400	G	A	BPTF	c.3400G>A	NM_182641.4	NP_872579.2:p.(Glu1134Lys)	NC_000017.10:g.65907400G>A	VUS	1 lab	5131d650db
16:72991667 ZFHX3 G>A	16	72991667	72991667	G	A	ZFHX3	c.2378C>T	NM_006885.4	NP_008816.3:p.(Pro793Leu)	NC_000016.9:g.72991667G>A	VUS	1 lab	5133e69884
22:36688129 MYH9 G>A	22	36688129	36688129	G	A	MYH9	c.4247C>T	NM_002473.6	NP_002464.1:p.(Thr1416Met)	NC_000022.10:g.36688129G>A	(Likely) benign	1 lab	5133f49756
7:31008452 GHRHR T>C	7	31008452	31008452	T	C	GHRHR	c.61T>C	NM_000823.4	NP_000814.2:p.(Leu21=)	NC_000007.13:g.31008452T>C	(Likely) benign	1 lab	51342c4351
15:49030963 CEP152 T>C	15	49030963	49030963	T	C	CEP152	c.4616A>G	NM_001194998.2	NP_001181927.1:p.(Asn1539Ser)	NC_000015.9:g.49030963T>C	VUS	1 lab	513619ffb6
3:47088069 SETD2 T>C	3	47088069	47088069	T	C	SETD2	c.7006A>G	NM_014159.7	NP_054878.5:p.(Ile2336Val)	NC_000003.11:g.47088069T>C	(Likely) benign	1 lab	5137c6fd78
2:170063743 LRP2 T>C	2	170063743	170063743	T	C	LRP2	c.6487A>G	NM_004525.3	NP_004516.2:p.(Asn2163Asp)	NC_000002.11:g.170063743T>C	VUS	1 lab	513ad0fbb2
11:108153540 ATM C>T	11	108153540	108153540	C	T	ATM	c.3680C>T	NM_000051.4	NP_000042.3:p.(Thr1227Ile)	NC_000011.9:g.108153540C>T	VUS	1 lab	513b001a9b
16:70285400 EXOSC6 C>T	16	70285400	70285400	C	T	EXOSC6	c.404G>A	NM_058219.3	NP_478126.1:p.(Arg135His)	NC_000016.9:g.70285400C>T	VUS	1 lab	513b5a89ac
14:23874955 MYH6 C>T	14	23874955	23874955	C	T	MYH6	c.226G>A	NM_002471.4	NP_002462.2:p.(Val76Met)	NC_000014.8:g.23874955C>T	VUS	1 lab	513bf40ec9
17:41246692 BRCA1 C>A	17	41246692	41246692	C	A	BRCA1	c.856G>T	NM_007294.4	NP_009225.1:p.(Glu286Ter)	NC_000017.10:g.41246692C>A	(Likely) pathogenic	1 lab	200c37678f
16:3024085 PKMYT1 G>A	16	3024085	3024085	G	A	PKMYT1	c.1226C>T	NM_004203.5	NP_004194.3:p.(Pro409Leu)	NC_000016.9:g.3024085G>A	(Likely) benign	1 lab	5142810938
1:16269135 ZBTB17 T>G	1	16269135	16269135	T	G	ZBTB17	c.1927A>C	NM_003443.3	NP_003434.2:p.(Ile643Leu)	NC_000001.10:g.16269135T>G	(Likely) benign	1 lab	5143b774c3
4:1957559 NSD2 GA>G	4	1957559	1957562	GA	G	NSD2	c.2661del	NM_001042424.3	NP_001035889.1:p.(Lys887AsnfsTer25)	NC_000004.11:g.1957562del	(Likely) pathogenic	1 lab	5143edca5b
1:45973874 MMACHC A>ACTGTTC	1	45973874	45973881	A	ACTGTTC	MMACHC	c.277-8_277-3dup	NM_015506.3	NP_056321.2:p.?	NC_000001.10:g.45973876_45973881dup	(Likely) benign	1 lab	514545f95a
20:17622495 RRBP1 T>C	20	17622495	17622495	T	C	RRBP1	c.2131A>G	NM_001365613.2	NP_001352542.1:p.(Thr711Ala)	NC_000020.10:g.17622495T>C	(Likely) benign	1 lab	5145fe8c8b
2:209103850 IDH1 T>C	2	209103850	209103850	T	C	IDH1	c.1099A>G	NM_005896.4	NP_005887.2:p.(Ile367Val)	NC_000002.11:g.209103850T>C	VUS	1 lab	5146152c36
3:101284393 TRMT10C A>C	3	101284393	101284393	A	C	TRMT10C	c.768A>C	NM_017819.4	NP_060289.2:p.(Arg256Ser)	NC_000003.11:g.101284393A>C	VUS	1 lab	5146784db6
9:94060347 AUH C>CT	9	94060347	94060348	C	CT	AUH	c.516dup	NM_001698.3	NP_001689.1:p.(Val173SerfsTer17)	NC_000009.11:g.94060348dup	(Likely) pathogenic	1 lab	514a7c89c7
2:179631153 TTN A>T	2	179631153	179631153	A	T	TTN	c.9658T>A	NM_001267550.2	NP_001254479.2:p.(Phe3220Ile)	NC_000002.11:g.179631153A>T	VUS	1 lab	514b47f9bc
21:45513974 TRAPPC10 G>A	21	45513974	45513974	G	A	TRAPPC10	c.3028G>A	NM_003274.5	NP_003265.3:p.(Val1010Ile)	NC_000021.8:g.45513974G>A	(Likely) benign	1 lab	514c23e084
15:75500406 C15orf39 T>G	15	75500406	75500406	T	G	C15orf39	c.2017T>G	NM_015492.5	NP_056307.3:p.(Ser673Ala)	NC_000015.9:g.75500406T>G	(Likely) benign	1 lab	514dba0912
11:73073498 ARHGEF17 G>A	11	73073498	73073498	G	A	ARHGEF17	c.4715G>A	NM_014786.4	NP_055601.2:p.(Arg1572Lys)	NC_000011.9:g.73073498G>A	(Likely) benign	1 lab	514f00ef85
2:112625625 ANAPC1 T>C	2	112625625	112625625	T	C	ANAPC1	c.660A>G	NM_022662.4	NP_073153.1:p.(Ile220Met)	NC_000002.11:g.112625625T>C	VUS	1 lab	514ffc7475
3:113522467 ATP6V1A T>C	3	113522467	113522467	T	C	ATP6V1A	c.1532T>C	NM_001690.4	NP_001681.2:p.(Val511Ala)	NC_000003.11:g.113522467T>C	VUS	1 lab	51521e2254
4:187208968 F11 C>T	4	187208968	187208968	C	T	F11	c.1707C>T	NM_000128.4	NP_000119.1:p.(Asp569=)	NC_000004.11:g.187208968C>T	(Likely) benign	1 lab	5153221e30
12:95456418 NR2C1 C>T	12	95456418	95456418	C	T	NR2C1	c.151G>A	NM_003297.4	NP_003288.2:p.(Gly51Ser)	NC_000012.11:g.95456418C>T	VUS	1 lab	5153cab5b8
1:100573523 SASS6 C>T	1	100573523	100573523	C	T	SASS6	c.899G>A	NM_194292.3	NP_919268.1:p.(Arg300Gln)	NC_000001.10:g.100573523C>T	(Likely) benign	1 lab	51569b0534
20:485848 CSNK2A1 G>A	20	485848	485848	G	A	CSNK2A1	c.127C>T	NM_177559.3	NP_808227.1:p.(Arg43Ter)	NC_000020.10:g.485848G>A	VUS	1 lab	5156b78554
6:157521957 ARID1B C>T	6	157521957	157521957	C	T	ARID1B	c.4598C>T	NM_001374828.1	NP_001361757.1:p.(Ser1533Phe)	NC_000006.11:g.157521957C>T	(Likely) benign	1 lab	5156d8de97
X:107939601 COL4A5 G>C	X	107939601	107939601	G	C	COL4A5	c.5069G>C	NM_033380.3	NP_203699.1:p.(Arg1690Thr)	NC_000023.10:g.107939601G>C	VUS	1 lab	51573e596a
3:58116533 FLNB G>A	3	58116533	58116533	G	A	FLNB	c.4288G>A	NM_001457.4	NP_001448.2:p.(Gly1430Arg)	NC_000003.11:g.58116533G>A	VUS	1 lab	51586fe235
2:71908147 DYSF C>T	2	71908147	71908147	C	T	DYSF	c.6080C>T	NM_001130987.2	NP_001124459.1:p.(Thr2027Ile)	NC_000002.11:g.71908147C>T	VUS	1 lab	5158c333b1
17:54672171 NOG A>C	17	54672171	54672171	A	C	NOG	c.587A>C	NM_005450.6	NP_005441.1:p.(Lys196Thr)	NC_000017.10:g.54672171A>C	VUS	1 lab	515a59fb7d
X:16189266 MAGEB17 G>T	X	16189266	16189266	G	T	MAGEB17	c.761G>T	NM_001277307.2	NP_001264236.1:p.(Gly254Val)	NC_000023.10:g.16189266G>T	VUS	1 lab	515a680b9a
9:35792629 NPR2 G>T	9	35792629	35792629	G	T	NPR2	c.224G>T	NM_003995.4	NP_003986.2:p.(Cys75Phe)	NC_000009.11:g.35792629G>T	VUS	1 lab	515c4f933b
X:99663331 PCDH19 G>A	X	99663331	99663331	G	A	PCDH19	c.265C>T	NM_001184880.2	NP_001171809.1:p.(Arg89Cys)	NC_000023.10:g.99663331G>A	(Likely) pathogenic	1 lab	200d1ecdb1
12:104081983 STAB2 G>T	12	104081983	104081983	G	T	STAB2	c.3035G>T	NM_017564.10	NP_060034.9:p.(Arg1012Leu)	NC_000012.11:g.104081983G>T	(Likely) benign	1 lab	515e57143b
9:126136916 CRB2 T>C	9	126136916	126136916	T	C	CRB2	c.3448T>C	NM_173689.7	NP_775960.4:p.(Cys1150Arg)	NC_000009.11:g.126136916T>C	VUS	1 lab	515fb23a33
1:225341473 DNAH14 A>G	1	225341473	225341473	A	G	DNAH14	c.5218A>G	NM_001367479.1	NP_001354408.1:p.(Arg1740Gly)	NC_000001.10:g.225341473A>G	VUS	1 lab	51623f6518
4:82090889 PRKG2 C>T	4	82090889	82090889	C	T	PRKG2	c.776G>A	NM_006259.3	NP_006250.1:p.(Arg259Gln)	NC_000004.11:g.82090889C>T	VUS	1 lab	51625d81c0
4:178363470 AGA T>C	4	178363470	178363470	T	C	AGA	c.60A>G	NM_000027.4	NP_000018.2:p.(Leu20=)	NC_000004.11:g.178363470T>C	(Likely) benign	1 lab	5163f22e0b
19:18895126 COMP C>T	19	18895126	18895126	C	T	COMP	c.1962G>A	NM_000095.3	NP_000086.2:p.(Leu654=)	NC_000019.9:g.18895126C>T	(Likely) benign	1 lab	51678b3b80
3:39229900 XIRP1 T>C	3	39229900	39229900	T	C	XIRP1	c.1037A>G	NM_194293.4	NP_919269.2:p.(Gln346Arg)	NC_000003.11:g.39229900T>C	(Likely) benign	1 lab	20a125412e
16:16253412 ABCC6 C>T	16	16253412	16253412	C	T	ABCC6	c.3662G>A	NM_001171.6	NP_001162.5:p.(Arg1221His)	NC_000016.9:g.16253412C>T	(Likely) pathogenic	1 lab	516b729830
5:114572084 PGGT1B C>T	5	114572084	114572084	C	T	PGGT1B	c.612+3G>A	NM_005023.4	NP_005014.2:p.?	NC_000005.9:g.114572084C>T	(Likely) benign	1 lab	516bb3808d
2:241710446 KIF1A C>G	2	241710446	241710446	C	G	KIF1A	c.1283G>C	NM_001244008.2	NP_001230937.1:p.(Ser428Thr)	NC_000002.11:g.241710446C>G	(Likely) benign	1 lab	516d562fe8
5:178408702 GRM6 C>T	5	178408702	178408702	C	T	GRM6	c.2590G>A	NM_000843.4	NP_000834.2:p.(Val864Met)	NC_000005.9:g.178408702C>T	(Likely) benign	1 lab	516ec69710
14:75498846 MLH3 C>T	14	75498846	75498846	C	T	MLH3	c.3752G>A	NM_001040108.2	NP_001035197.1:p.(Arg1251Gln)	NC_000014.8:g.75498846C>T	VUS	1 lab	516fc403b6
X:120009416 CT47B1 C>T	X	120009416	120009416	C	T	CT47B1	c.109G>A	NM_001145718.3	NP_001139190.1:p.(Asp37Asn)	NC_000023.10:g.120009416C>T	VUS	1 lab	51727cf1df
4:6304186 WFS1 G>A	4	6304186	6304186	G	A	WFS1	c.2664G>A	NM_006005.3	NP_005996.2:p.(Ser888=)	NC_000004.11:g.6304186G>A	VUS	1 lab	5172b9c6bc
16:2809613 SRRM2 C>T	16	2809613	2809613	C	T	SRRM2	c.784C>T	NM_016333.4	NP_057417.3:p.(Arg262Cys)	NC_000016.9:g.2809613C>T	(Likely) benign	1 lab	5172ce03e9
20:61448435 COL9A3 T>A	20	61448435	61448435	T	A	COL9A3	c.19T>A	NM_001853.4	NP_001844.3:p.(Cys7Ser)	NC_000020.10:g.61448435T>A	(Likely) benign	1 lab	51731319b8
7:23183516 KLHL7 G>A	7	23183516	23183516	G	A	KLHL7	c.665G>A	NM_001031710.3	NP_001026880.2:p.(Arg222His)	NC_000007.13:g.23183516G>A	VUS	1 lab	5174600c8f
X:150839505 PASD1 C>T	X	150839505	150839505	C	T	PASD1	c.1072-5C>T	NM_173493.3	NP_775764.2:p.?	NC_000023.10:g.150839505C>T	VUS	1 lab	5174980b45
X:77301831 ATP7A C>T	X	77301831	77301831	C	T	ATP7A	c.4267C>T	NM_000052.7	NP_000043.4:p.(Arg1423Trp)	NC_000023.10:g.77301831C>T	(Likely) benign	1 lab	5174d04e47
X:41530567 CASK G>T	X	41530567	41530567	G	T	CASK	c.532+114C>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41530567G>T	(Likely) benign	1 lab	20a22134b1
12:121426811 HNF1A C>T	12	121426811	121426811	C	T	HNF1A	c.502C>T	NM_000545.8	NP_000536.6:p.(Arg168Cys)	NC_000012.11:g.121426811C>T	(Likely) pathogenic	1 lab	5176e546e6
1:247588339 NLRP3 A>G	1	247588339	247588339	A	G	NLRP3	c.1588A>G	NM_001243133.2	NP_001230062.1:p.(Met530Val)	NC_000001.10:g.247588339A>G	(Likely) benign	1 lab	5178e97646
7:40127724 CDK13 G>T	7	40127724	40127724	G	T	CDK13	c.3030-1G>T	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40127724G>T	(Likely) benign	1 lab	51791b5305
19:18960883 UPF1 G>A	19	18960883	18960883	G	A	UPF1	c.462-1G>A	NM_002911.4	NP_002902.2:p.?	NC_000019.9:g.18960883G>A	VUS	1 lab	517957d455
7:73477959 ELN G>T	7	73477959	73477959	G	T	ELN	c.1927G>T	NM_000501.4	NP_000492.2:p.(Gly643Ter)	NC_000007.13:g.73477959G>T	(Likely) benign	1 lab	517c9b30bd
1:93301939 RPL5 A>G	1	93301939	93301939	A	G	RPL5	c.517A>G	NM_000969.5	NP_000960.2:p.(Ile173Val)	NC_000001.10:g.93301939A>G	(Likely) benign	1 lab	517cccc4d1
2:179647721 TTN G>T	2	179647721	179647721	G	T	TTN	c.2912C>A	NM_001267550.2	NP_001254479.2:p.(Ser971Tyr)	NC_000002.11:g.179647721G>T	(Likely) benign	1 lab	517e5fac56
6:32010258 TNXB T>C	6	32010258	32010258	T	C	TNXB	c.12184A>G	NM_001365276.2	NP_001352205.1:p.(Met4062Val)	NC_000006.11:g.32010258T>C	VUS	1 lab	517e9510ac
1:27121595 PIGV G>A	1	27121595	27121595	G	A	PIGV	c.1070G>A	NM_017837.4	NP_060307.2:p.(Gly357Glu)	NC_000001.10:g.27121595G>A	VUS	1 lab	517eb220af
X:152225789 PNMA3 C>T	X	152225789	152225789	C	T	PNMA3	c.377C>T	NM_013364.6	NP_037496.4:p.(Ser126Leu)	NC_000023.10:g.152225789C>T	(Likely) benign	1 lab	517f1c2a5e
3:47165060 SETD2 C>T	3	47165060	47165060	C	T	SETD2	c.1066G>A	NM_014159.7	NP_054878.5:p.(Ala356Thr)	NC_000003.11:g.47165060C>T	(Likely) benign	1 lab	517f24f94a
17:43517518 PLEKHM1 GAC>G	17	43517518	43517522	GAC	G	PLEKHM1	c.2901+9_2901+10del	NM_014798.3	NP_055613.1:p.?	NC_000017.10:g.43517521_43517522del	(Likely) benign	1 lab	5180964cf5
12:52799963 KRT82 C>T	12	52799963	52799963	C	T	KRT82	c.99G>A	NM_033033.4	NP_149022.3:p.(Val33=)	NC_000012.11:g.52799963C>T	(Likely) benign	1 lab	51826f274c
14:105411307 AHNAK2 G>T	14	105411307	105411307	G	T	AHNAK2	c.10481C>A	NM_138420.4	NP_612429.2:p.(Ala3494Asp)	NC_000014.8:g.105411307G>T	(Likely) benign	1 lab	5182ef8829
19:49165157 NTN5 A>C	19	49165157	49165157	A	C	NTN5	c.1247T>G	NM_145807.4	NP_665806.1:p.(Leu416Arg)	NC_000019.9:g.49165157A>C	VUS	1 lab	5183795a53
8:144993154 PLEC C>T	8	144993154	144993154	C	T	PLEC	c.10835G>A	NM_201384.3	NP_958786.1:p.(Arg3612Gln)	NC_000008.10:g.144993154C>T	VUS	1 lab	51863ec188
8:42586866 CHRNB3 G>A	8	42586866	42586866	G	A	CHRNB3	c.416G>A	NM_000749.5	NP_000740.1:p.(Gly139Glu)	NC_000008.10:g.42586866G>A	VUS	1 lab	518995d050
20:37357242 SLC32A1 A>C	20	37357242	37357242	A	C	SLC32A1	c.1538A>C	NM_080552.3	NP_542119.1:p.(Glu513Ala)	NC_000020.10:g.37357242A>C	(Likely) benign	1 lab	518b180c59
6:35434099 FANCE G>A	6	35434099	35434099	G	A	FANCE	c.1588G>A	NM_021922.3	NP_068741.1:p.(Ala530Thr)	NC_000006.11:g.35434099G>A	VUS	1 lab	51915e8a7c
2:69240665 ANTXR1 G>A	2	69240665	69240665	G	A	ANTXR1	c.34G>A	NM_032208.3	NP_115584.1:p.(Gly12Ser)	NC_000002.11:g.69240665G>A	VUS	1 lab	5194377f3c
6:42946019 PEX6 C>G	6	42946019	42946019	C	G	PEX6	c.870G>C	NM_000287.4	NP_000278.3:p.(Glu290Asp)	NC_000006.11:g.42946019C>G	VUS	1 lab	51948540f0
5:169484643 DOCK2 C>T	5	169484643	169484643	C	T	DOCK2	c.4440C>T	NM_004946.3	NP_004937.1:p.(Arg1480=)	NC_000005.9:g.169484643C>T	(Likely) benign	1 lab	20a7455701
19:1105723 GPX4 A>G	19	1105723	1105723	A	G	GPX4	c.391A>G	NM_002085.5	NP_002076.2:p.(Ser131Gly)	NC_000019.9:g.1105723A>G	(Likely) benign	1 lab	519941fb2a
21:44299601 WDR4 G>T	21	44299601	44299601	G	T	WDR4	c.5C>A	NM_018669.6	NP_061139.2:p.(Ala2Glu)	NC_000021.8:g.44299601G>T	VUS	1 lab	5199ccda0d
10:131757189 EBF3 GCCGCTCA>G	10	131757189	131757198	GCCGCTCA	G	EBF3	c.485+2_485+8del	NM_001005463.3	NP_001005463.1:p.?	NC_000010.10:g.131757192_131757198del	(Likely) pathogenic	1 lab	200edb25a7
9:18777171 ADAMTSL1 G>A	9	18777171	18777171	G	A	ADAMTSL1	c.2944G>A	NM_001040272.6	NP_001035362.3:p.(Ala982Thr)	NC_000009.11:g.18777171G>A	(Likely) benign	1 lab	519d57e64d
19:49001420 LMTK3 C>T	19	49001420	49001420	C	T	LMTK3	c.2906G>A	NM_001388485.1	NP_001375414.1:p.(Arg969Lys)	NC_000019.9:g.49001420C>T	VUS	1 lab	519d7e1c08
2:170366918 KLHL41 CAG>C	2	170366918	170366920	CAG	C	KLHL41	c.631_632del	NM_006063.3	NP_006054.2:p.(Arg211GlyfsTer2)	NC_000002.11:g.170366919_170366920del	VUS	1 lab	519d90d8e1
10:96019029 PLCE1 A>T	10	96019029	96019029	A	T	PLCE1	c.3814+122A>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96019029A>T	(Likely) benign	1 lab	20a921d75b
11:66995590 KDM2A G>A	11	66995590	66995590	G	A	KDM2A	c.1040G>A	NM_012308.3	NP_036440.1:p.(Arg347His)	NC_000011.9:g.66995590G>A	(Likely) benign	1 lab	519f28da4e
1:178491455 TEX35 C>A	1	178491455	178491455	C	A	TEX35	c.587-5C>A	NM_032126.5	NP_115502.2:p.?	NC_000001.10:g.178491455C>A	(Likely) benign	1 lab	519f8c1994
11:533619 HRAS G>A	11	533619	533619	G	A	HRAS	c.291-7C>T	NM_005343.4	NP_005334.1:p.?	NC_000011.9:g.533619G>A	(Likely) benign	1 lab	519fdd65c1
X:55478937 MAGEH1 C>A	X	55478937	55478937	C	A	MAGEH1	c.130C>A	NM_014061.5	NP_054780.2:p.(Pro44Thr)	NC_000023.10:g.55478937C>A	(Likely) benign	1 lab	519fdfe38c
19:19042820 HOMER3 C>A	19	19042820	19042820	C	A	HOMER3	c.655G>T	NM_004838.4	NP_004829.3:p.(Ala219Ser)	NC_000019.9:g.19042820C>A	VUS	1 lab	51a0fd0204
6:29641269 ZFP57 G>A	6	29641269	29641269	G	A	ZFP57	c.619C>T	NM_001109809.5	NP_001103279.2:p.(Gln207Ter)	NC_000006.11:g.29641269G>A	(Likely) pathogenic	1 lab	51a107790d
19:42856609 MEGF8 G>T	19	42856609	42856609	G	T	MEGF8	c.3350+1G>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42856609G>T	VUS	1 lab	51a330f15a
6:29640369 ZFP57 T>TG	6	29640369	29640375	T	TG	ZFP57	c.1518dup	NM_001109809.5	NP_001103279.2:p.(Arg507GlnfsTer30)	NC_000006.11:g.29640375dup	(Likely) pathogenic	1 lab	51a34689cf
10:27389246 ANKRD26 T>C	10	27389246	27389246	T	C	ANKRD26	c.10A>G	NM_014915.3	NP_055730.2:p.(Ile4Val)	NC_000010.10:g.27389246T>C	(Likely) benign	1 lab	51a5797412
8:144991559 PLEC C>T	8	144991559	144991559	C	T	PLEC	c.12430G>A	NM_201384.3	NP_958786.1:p.(Val4144Met)	NC_000008.10:g.144991559C>T	VUS	1 lab	51a621b0dd
16:89865332 FANCA C>T	16	89865332	89865332	C	T	FANCA	c.893+242G>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89865332C>T	(Likely) benign	1 lab	51a73244f4
X:49114743 FOXP3 A>G	X	49114743	49114743	A	G	FOXP3	c.210+10T>C	NM_014009.4	NP_054728.2:p.?	NC_000023.10:g.49114743A>G	(Likely) benign	1 lab	51a811ca32
X:119077426 NKAP G>A	X	119077426	119077426	G	A	NKAP	c.143C>T	NM_024528.4	NP_078804.2:p.(Ser48Phe)	NC_000023.10:g.119077426G>A	VUS	1 lab	51a8520321
22:45972940 FBLN1 C>T	22	45972940	45972940	C	T	FBLN1	c.1924C>T	NM_006486.3	NP_006477.3:p.(Arg642Trp)	NC_000022.10:g.45972940C>T	(Likely) benign	1 lab	51a8a07912
2:219922161 IHH T>C	2	219922161	219922161	T	C	IHH	c.571A>G	NM_002181.4	NP_002172.2:p.(Lys191Glu)	NC_000002.11:g.219922161T>C	VUS	1 lab	51a8afd7e5
14:75516261 MLH3 C>T	14	75516261	75516261	C	T	MLH3	c.98G>A	NM_001040108.2	NP_001035197.1:p.(Ser33Asn)	NC_000014.8:g.75516261C>T	VUS	1 lab	51aa4454fa
19:35625011 LGI4 G>A	19	35625011	35625011	G	A	LGI4	c.171-3C>T	NM_139284.3	NP_644813.1:p.?	NC_000019.9:g.35625011G>A	(Likely) benign	1 lab	51aa9eccfd
1:119441648 TBX15 T>C	1	119441648	119441648	T	C	TBX15	c.1024+3A>G	NM_001330677.2	NP_001317606.1:p.?	NC_000001.10:g.119441648T>C	VUS	1 lab	51ab95de4d
1:22165901 HSPG2 A>G	1	22165901	22165901	A	G	HSPG2	c.9852T>C	NM_005529.7	NP_005520.4:p.(Ala3284=)	NC_000001.10:g.22165901A>G	(Likely) benign	1 lab	200f3f2529
14:23889399 MYH7 GGT>G	14	23889399	23889402	GGT	G	MYH7	c.3379_3380del	NM_000257.4	NP_000248.2:p.(Thr1127ArgfsTer4)	NC_000014.8:g.23889401_23889402del	VUS	1 lab	51abf69fe2
2:3622942 RPS7 T>G	2	3622942	3622942	T	G	RPS7	c.-19+2T>G	NM_001011.4	NP_001002.1:p.?	NC_000002.11:g.3622942T>G	(Likely) pathogenic	1 lab	20ac4df7c6
X:77369632 PGK1 A>G	X	77369632	77369632	A	G	PGK1	c.392A>G	NM_000291.4	NP_000282.1:p.(Lys131Arg)	NC_000023.10:g.77369632A>G	VUS	1 lab	51acd9f9d8
2:197761868 PGAP1 G>A	2	197761868	197761868	G	A	PGAP1	c.914C>T	NM_024989.4	NP_079265.2:p.(Ala305Val)	NC_000002.11:g.197761868G>A	(Likely) benign	1 lab	20ac4fc5d5
18:29598971 RNF125 C>T	18	29598971	29598971	C	T	RNF125	c.145C>T	NM_017831.4	NP_060301.2:p.(Arg49Trp)	NC_000018.9:g.29598971C>T	VUS	1 lab	51ae0fac4d
1:52863512 ORC1 G>A	1	52863512	52863512	G	A	ORC1	c.247C>T	NM_004153.4	NP_004144.2:p.(Arg83Cys)	NC_000001.10:g.52863512G>A	(Likely) benign	1 lab	51af369309
2:109398985 RANBP2 T>A	2	109398985	109398985	T	A	RANBP2	c.9036T>A	NM_006267.5	NP_006258.3:p.(Asp3012Glu)	NC_000002.11:g.109398985T>A	VUS	1 lab	51b4984d8b
20:60912746 LAMA5 G>T	20	60912746	60912746	G	T	LAMA5	c.2064C>A	NM_005560.4	NP_005551.3:p.(Ala688=)	NC_000020.10:g.60912746G>T	(Likely) benign	1 lab	20ad4d185d
2:166731284 TTC21B C>T	2	166731284	166731284	C	T	TTC21B	c.3932G>A	NM_024753.5	NP_079029.3:p.(Arg1311His)	NC_000002.11:g.166731284C>T	VUS	1 lab	51b6dba687
16:6367045 RBFOX1 G>T	16	6367045	6367045	G	T	RBFOX1	c.-77G>T	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6367045G>T	VUS	1 lab	51b86f7895
1:27023334 ARID1A C>T	1	27023334	27023334	C	T	ARID1A	c.440C>T	NM_006015.6	NP_006006.3:p.(Ala147Val)	NC_000001.10:g.27023334C>T	VUS	1 lab	51b9b86348
11:128842787 ARHGAP32 C>T	11	128842787	128842787	C	T	ARHGAP32	c.3614G>A	NM_001378024.1	NP_001364953.1:p.(Ser1205Asn)	NC_000011.9:g.128842787C>T	(Likely) benign	1 lab	51b9e561a5
2:55561700 CCDC88A G>A	2	55561700	55561700	G	A	CCDC88A	c.2257C>T	NM_001365480.1	NP_001352409.1:p.(Arg753Cys)	NC_000002.11:g.55561700G>A	VUS	1 lab	51bc2fab31
2:166775887 TTC21B A>G	2	166775887	166775887	A	G	TTC21B	c.1573T>C	NM_024753.5	NP_079029.3:p.(Tyr525His)	NC_000002.11:g.166775887A>G	VUS	1 lab	51c167b0d9
22:32838673 BPIFC G>A	22	32838673	32838673	G	A	BPIFC	c.640C>T	NM_174932.3	NP_777592.1:p.(Leu214Phe)	NC_000022.10:g.32838673G>A	(Likely) benign	1 lab	51c1fae271
18:72997846 TSHZ1 A>C	18	72997846	72997846	A	C	TSHZ1	c.484A>C	NM_001308210.2	NP_001295139.1:p.(Thr162Pro)	NC_000018.9:g.72997846A>C	(Likely) benign	1 lab	51c2c42ebb
11:100211867 CNTN5 G>A	11	100211867	100211867	G	A	CNTN5	c.2960G>A	NM_014361.4	NP_055176.1:p.(Gly987Asp)	NC_000011.9:g.100211867G>A	(Likely) benign	1 lab	51c4fc39c0
X:37028331 FAM47C T>TCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCC	X	37028331	37028387	T	TCATCTCCGCCCAGAGCCTCCTGAGACTGGAGTGTCC	FAM47C	c.1869_1904dup	NM_001013736.3	NP_001013758.1:p.(Glu624_Pro635dup)	NC_000023.10:g.37028352_37028387dup	VUS	1 lab	51c6981076
22:24759286 SPECC1L C>T	22	24759286	24759286	C	T	SPECC1L	c.2801C>T	NM_015330.6	NP_056145.5:p.(Ala934Val)	NC_000022.10:g.24759286C>T	(Likely) benign	1 lab	20165a0463
X:15568118 BMX G>A	X	15568118	15568118	G	A	BMX	c.1951G>A	NM_203281.3	NP_975010.1:p.(Glu651Lys)	NC_000023.10:g.15568118G>A	VUS	1 lab	51cbf2beb2
15:89399986 ACAN C>CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	15	89399986	89400040	C	CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAG	ACAN	c.4223_4224insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA	NM_001369268.1	NP_001356197.1:p.(Val1407_Glu1408insAspGluIleSerGlyLeuProSerGlyGluValLeuGluThrThrAlaProGlyVal)	NC_000015.9:g.89400039_89400040insTGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGA	(Likely) benign	1 lab	51cc566d72
6:33148067 COL11A2 G>C	6	33148067	33148067	G	C	COL11A2	c.1327C>G	NM_080680.3	NP_542411.2:p.(Pro443Ala)	NC_000006.11:g.33148067G>C	VUS	1 lab	51cdacd609
16:2152468 PKD1 G>T	16	2152468	2152468	G	T	PKD1	c.9115C>A	NM_001009944.3	NP_001009944.3:p.(Arg3039Ser)	NC_000016.9:g.2152468G>T	VUS	1 lab	51cf046f03
5:149782836 CD74 G>A	5	149782836	149782836	G	A	CD74	c.665C>T	NM_001025159.3	NP_001020330.1:p.(Ala222Val)	NC_000005.9:g.149782836G>A	VUS	1 lab	51cf0d9027
1:19493645 UBR4 G>A	1	19493645	19493645	G	A	UBR4	c.3980C>T	NM_020765.3	NP_065816.2:p.(Ala1327Val)	NC_000001.10:g.19493645G>A	VUS	1 lab	51cfd6b756
X:36083821 CFAP47 G>A	X	36083821	36083821	G	A	CFAP47	c.4279G>A	NM_001304548.2	NP_001291477.1:p.(Ala1427Thr)	NC_000023.10:g.36083821G>A	VUS	1 lab	51d13db128
16:1269078 CACNA1H C>T	16	1269078	1269078	C	T	CACNA1H	c.5996C>T	NM_021098.3	NP_066921.2:p.(Ser1999Phe)	NC_000016.9:g.1269078C>T	VUS	1 lab	51d274eb14
15:84651190 ADAMTSL3 G>A	15	84651190	84651190	G	A	ADAMTSL3	c.2810G>A	NM_207517.3	NP_997400.2:p.(Arg937Gln)	NC_000015.9:g.84651190G>A	VUS	1 lab	51d298827b
13:99566574 DOCK9 G>A	13	99566574	99566574	G	A	DOCK9	c.960+8C>T	NM_001366683.2	NP_001353612.1:p.?	NC_000013.10:g.99566574G>A	(Likely) benign	1 lab	51d2c9362f
19:15288765 NOTCH3 C>A	19	15288765	15288765	C	A	NOTCH3	c.3974G>T	NM_000435.3	NP_000426.2:p.(Arg1325Leu)	NC_000019.9:g.15288765C>A	VUS	1 lab	51d33c61ee
1:163325123 NUF2 A>G	1	163325123	163325123	A	G	NUF2	c.1261-2A>G	NM_145697.3	NP_663735.2:p.?	NC_000001.10:g.163325123A>G	VUS	1 lab	51d4035679
X:153592372 FLNA C>T	X	153592372	153592372	C	T	FLNA	c.2280+18G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592372C>T	(Likely) benign	1 lab	20b34519b0
14:89291113 TTC8 A>T	14	89291113	89291113	A	T	TTC8	c.62A>T	NM_144596.4	NP_653197.2:p.(Gln21Leu)	NC_000014.8:g.89291113A>T	(Likely) benign	1 lab	51d5421bf3
11:57575754 CTNND1 G>C	11	57575754	57575754	G	C	CTNND1	c.2081G>C	NM_001085458.2	NP_001078927.1:p.(Gly694Ala)	NC_000011.9:g.57575754G>C	VUS	1 lab	51d62398a9
15:78894138 CHRNA3 GGA>G	15	78894138	78894143	GGA	G	CHRNA3	c.844_845del	NM_000743.5	NP_000734.2:p.(Ser282ProfsTer10)	NC_000015.9:g.78894142_78894143del	(Likely) pathogenic	1 lab	51d646e8b3
1:144854598 PDE4DIP C>T	1	144854598	144854598	C	T	PDE4DIP	c.7070G>A	NM_001395426.1	NP_001382355.1:p.(Arg2357Gln)	NC_000001.10:g.144854598C>T	VUS	1 lab	51d6f8231d
17:40362441 STAT5B G>A	17	40362441	40362441	G	A	STAT5B	c.1755C>T	NM_012448.4	NP_036580.2:p.(Leu585=)	NC_000017.10:g.40362441G>A	(Likely) benign	1 lab	51da84afa1
22:29886577 NEFH C>G	22	29886577	29886577	C	G	NEFH	c.2948C>G	NM_021076.4	NP_066554.2:p.(Ser983Ter)	NC_000022.10:g.29886577C>G	(Likely) pathogenic	1 lab	51db2e7491
X:70353455 MED12 A>T	X	70353455	70353455	A	T	MED12	c.4617+393A>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70353455A>T	(Likely) benign	1 lab	51db86983a
17:7311768 NLGN2 C>G	17	7311768	7311768	C	G	NLGN2	c.194C>G	NM_020795.4	NP_065846.1:p.(Pro65Arg)	NC_000017.10:g.7311768C>G	VUS	1 lab	51df39d5d1
X:54225037 WNK3 G>C	X	54225037	54225037	G	C	WNK3	c.5123C>G	NM_020922.5	NP_065973.2:p.(Ser1708Cys)	NC_000023.10:g.54225037G>C	VUS	1 lab	51e018bd20
3:50255112 SLC38A3 T>C	3	50255112	50255112	T	C	SLC38A3	c.695T>C	NM_006841.6	NP_006832.1:p.(Ile232Thr)	NC_000003.11:g.50255112T>C	VUS	1 lab	51e1cd1a44
16:84127307 MBTPS1 GAG>AAA	16	84127307	84127309	GAG	AAA	MBTPS1	c.736+7_736+9delinsTTT	NM_003791.4	NP_003782.1:p.?	NC_000016.9:g.84127307_84127309delinsAAA	(Likely) benign	1 lab	51e3965567
19:45854612 ERCC2 C>A	19	45854612	45854612	C	A	ERCC2	c.*275G>T	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45854612C>A	VUS	1 lab	52077917ea
17:78180812 CARD14 C>G	17	78180812	78180812	C	G	CARD14	c.2735C>G	NM_024110.4	NP_077015.2:p.(Thr912Ser)	NC_000017.10:g.78180812C>G	(Likely) benign	1 lab	20b4612520
1:152277952 FLG C>G	1	152277952	152277952	C	G	FLG	c.9410G>C	NM_002016.2	NP_002007.1:p.(Gly3137Ala)	NC_000001.10:g.152277952C>G	(Likely) benign	1 lab	51e7206b36
8:98973696 MATN2 G>A	8	98973696	98973696	G	A	MATN2	c.896G>A	NM_002380.5	NP_002371.3:p.(Gly299Asp)	NC_000008.10:g.98973696G>A	(Likely) benign	1 lab	51e78ecd7f
7:70239035 AUTS2 G>A	7	70239035	70239035	G	A	AUTS2	c.1852G>A	NM_015570.4	NP_056385.1:p.(Ala618Thr)	NC_000007.13:g.70239035G>A	(Likely) benign	1 lab	51ead8eb4f
12:88909373 KITLG T>C	12	88909373	88909373	T	C	KITLG	c.542A>G	NM_000899.5	NP_000890.1:p.(Lys181Arg)	NC_000012.11:g.88909373T>C	(Likely) benign	1 lab	51eae00b8f
6:117203521 RFX6 T>C	6	117203521	117203521	T	C	RFX6	c.505-9T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117203521T>C	(Likely) benign	1 lab	51eb4d7f71
2:179576938 TTN A>C	2	179576938	179576938	A	C	TTN	c.27619T>G	NM_001267550.2	NP_001254479.2:p.(Phe9207Val)	NC_000002.11:g.179576938A>C	VUS	1 lab	51eeb26654
1:181781582 MISSING C>T	1	181781582	181781582	C	T	MISSING				NC_000001.10:g.181781582C>T	VUS	1 lab	95ea37bbb7
20:43036037 HNF4A G>A	20	43036037	43036037	G	A	HNF4A	c.307G>A	NM_000457.5	NP_000448.3:p.(Val103Met)	NC_000020.10:g.43036037G>A	VUS	1 lab	51ef00c3b5
1:8674624 RERE A>C	1	8674624	8674624	A	C	RERE	c.518T>G	NM_001042681.2	NP_001036146.1:p.(Val173Gly)	NC_000001.10:g.8674624A>C	VUS	1 lab	51eff73361
6:129826488 LAMA2 A>G	6	129826488	129826488	A	G	LAMA2	c.8691A>G	NM_000426.4	NP_000417.3:p.(Arg2897=)	NC_000006.11:g.129826488A>G	(Likely) benign	1 lab	51f5932463
11:73785652 C2CD3 G>C	11	73785652	73785652	G	C	C2CD3	c.4604-7C>G	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73785652G>C	(Likely) benign	1 lab	51fa5a87be
18:67733077 RTTN A>C	18	67733077	67733077	A	C	RTTN	c.4735T>G	NM_173630.4	NP_775901.3:p.(Phe1579Val)	NC_000018.9:g.67733077A>C	(Likely) benign	1 lab	51fbc0b558
11:102815039 MMP13 G>A	11	102815039	102815039	G	A	MMP13	c.1372C>T	NM_002427.4	NP_002418.1:p.(Arg458Cys)	NC_000011.9:g.102815039G>A	VUS	1 lab	522a6099aa
15:100801759 ADAMTS17 C>T	15	100801759	100801759	C	T	ADAMTS17	c.956G>A	NM_139057.4	NP_620688.2:p.(Arg319Gln)	NC_000015.9:g.100801759C>T	(Likely) benign	1 lab	51fd3d3cc9
16:88803958 PIEZO1 G>A	16	88803958	88803958	G	A	PIEZO1	c.1195+9C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88803958G>A	(Likely) benign	1 lab	51fd445a1d
X:31947706 DMD G>A	X	31947706	31947706	G	A	DMD	c.6912+7C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31947706G>A	(Likely) benign	1 lab	51fdb3ec45
17:10298604 MYH8 G>A	17	10298604	10298604	G	A	MYH8	c.4808C>T	NM_002472.3	NP_002463.2:p.(Thr1603Met)	NC_000017.10:g.10298604G>A	(Likely) benign	1 lab	51fe1a30b4
1:198678922 PTPRC C>T	1	198678922	198678922	C	T	PTPRC	c.1140C>T	NM_002838.5	NP_002829.3:p.(Asn380=)	NC_000001.10:g.198678922C>T	(Likely) benign	1 lab	20b85633ef
12:120729597 RNU4-2 C>T	12	120729597	120729597	C	T	RNU4-2	n.110G>A	NR_003137.2		NC_000012.11:g.120729597C>T	VUS	1 lab	617d3d6884
3:49570296 DAG1 C>T	3	49570296	49570296	C	T	DAG1	c.2352C>T	NM_004393.6	NP_004384.5:p.(Thr784=)	NC_000003.11:g.49570296C>T	(Likely) benign	1 lab	51ff12c82b
7:154587733 DPP6 C>T	7	154587733	154587733	C	T	DPP6	c.1299+140C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154587733C>T	VUS	1 lab	51ff7eba90
11:64497622 RASGRP2 C>T	11	64497622	64497622	C	T	RASGRP2	c.1457G>A	NM_001098671.2	NP_001092141.1:p.(Arg486His)	NC_000011.9:g.64497622C>T	(Likely) benign	1 lab	51ffe98aa7
5:914595 TRIP13 C>T	5	914595	914595	C	T	TRIP13	c.1036C>T	NM_004237.4	NP_004228.1:p.(Pro346Ser)	NC_000005.9:g.914595C>T	VUS	1 lab	5201ca7484
18:10753423 PIEZO2 T>G	18	10753423	10753423	T	G	PIEZO2	c.3924-546A>C	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10753423T>G	(Likely) benign	1 lab	5203b5f96a
17:61995725 GH1 A>T	17	61995725	61995725	A	T	GH1	c.152T>A	NM_000515.5	NP_000506.2:p.(Phe51Tyr)	NC_000017.10:g.61995725A>T	(Likely) benign	1 lab	5203fd47fe
11:64508451 RASGRP2 G>A	11	64508451	64508451	G	A	RASGRP2	c.340C>T	NM_001098671.2	NP_001092141.1:p.(Arg114Trp)	NC_000011.9:g.64508451G>A	VUS	1 lab	5206eebfed
1:11187844 MTOR C>T	1	11187844	11187844	C	T	MTOR	c.6053G>A	NM_004958.4	NP_004949.1:p.(Arg2018Gln)	NC_000001.10:g.11187844C>T	VUS	1 lab	52076205c8
4:71471985 AMBN C>A	4	71471985	71471985	C	A	AMBN	c.882C>A	NM_016519.6	NP_057603.1:p.(His294Gln)	NC_000004.11:g.71471985C>A	(Likely) benign	1 lab	520ba0e891
17:11772511 DNAH9 C>T	17	11772511	11772511	C	T	DNAH9	c.9994C>T	NM_001372.4	NP_001363.2:p.(Leu3332Phe)	NC_000017.10:g.11772511C>T	VUS	1 lab	520d5c8c5d
2:179431808 TTN G>C	2	179431808	179431808	G	C	TTN	c.79051C>G	NM_001267550.2	NP_001254479.2:p.(Leu26351Val)	NC_000002.11:g.179431808G>C	(Likely) benign	1 lab	520d8c3e42
19:16980835 SIN3B CGCA>C	19	16980835	16980839	CGCA	C	SIN3B	c.2373_2375del	NM_001297595.2	NP_001284524.1:p.(Arg792del)	NC_000019.9:g.16980837_16980839del	VUS	1 lab	520e312850
10:28196609 ODAD2 A>G	10	28196609	28196609	A	G	ODAD2	c.2593T>C	NM_018076.5	NP_060546.2:p.(Cys865Arg)	NC_000010.10:g.28196609A>G	VUS	1 lab	520fa373d6
X:29973771 IL1RAPL1 C>G	X	29973771	29973771	C	G	IL1RAPL1	c.1925C>G	NM_014271.4	NP_055086.1:p.(Ser642Cys)	NC_000023.10:g.29973771C>G	VUS	1 lab	520fd3b8d0
6:31747238 VARS1 G>A	6	31747238	31747238	G	A	VARS1	c.3364C>T	NM_006295.3	NP_006286.1:p.(Arg1122Trp)	NC_000006.11:g.31747238G>A	VUS	1 lab	5212005ce9
22:40042737 CACNA1I T>C	22	40042737	40042737	T	C	CACNA1I	c.1313T>C	NM_021096.4	NP_066919.2:p.(Ile438Thr)	NC_000022.10:g.40042737T>C	(Likely) benign	1 lab	52128c22eb
17:59820427 BRIP1 C>T	17	59820427	59820427	C	T	BRIP1	c.2326G>A	NM_032043.3	NP_114432.2:p.(Ala776Thr)	NC_000017.10:g.59820427C>T	VUS	1 lab	52156bc314
17:33434386 RAD51D T>C	17	33434386	33434386	T	C	RAD51D	c.344A>G	NM_002878.4	NP_002869.3:p.(Gln115Arg)	NC_000017.10:g.33434386T>C	VUS	1 lab	5219eec1f7
2:105472843 POU3F3 C>A	2	105472843	105472843	C	A	POU3F3	c.875C>A	NM_006236.3	NP_006227.1:p.(Pro292Gln)	NC_000002.11:g.105472843C>A	(Likely) benign	1 lab	521a19fbcf
4:5798769 EVC A>G	4	5798769	5798769	A	G	EVC	c.1907A>G	NM_153717.3	NP_714928.1:p.(Gln636Arg)	NC_000004.11:g.5798769A>G	(Likely) benign	1 lab	521a64a5a5
19:1462119 APC2 G>A	19	1462119	1462119	G	A	APC2	c.1796G>A	NM_005883.3	NP_005874.1:p.(Ser599Asn)	NC_000019.9:g.1462119G>A	VUS	1 lab	523a3778f2
15:89417065 ACAN C>T	15	89417065	89417065	C	T	ACAN	c.7448-8C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89417065C>T	(Likely) benign	1 lab	521c169900
11:9075280 SCUBE2 C>T	11	9075280	9075280	C	T	SCUBE2	c.1234G>A	NM_001367977.2	NP_001354906.1:p.(Gly412Arg)	NC_000011.9:g.9075280C>T	VUS	1 lab	521e12da56
7:69538390 AUTS2 G>A	7	69538390	69538390	G	A	AUTS2	c.523-44728G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69538390G>A	(Likely) benign	1 lab	521e99b2f0
9:3828393 GLIS3 G>C	9	3828393	3828393	G	C	GLIS3	c.2672C>G	NM_001042413.2	NP_001035878.1:p.(Ser891Ter)	NC_000009.11:g.3828393G>C	VUS	1 lab	521f30d77b
3:42734616 HHATL T>C	3	42734616	42734616	T	C	HHATL	c.1343A>G	NM_020707.4	NP_065758.3:p.(Asn448Ser)	NC_000003.11:g.42734616T>C	VUS	1 lab	521f59855f
4:123170844 BLTP1 A>C	4	123170844	123170844	A	C	BLTP1	c.5710+7A>C	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123170844A>C	(Likely) benign	1 lab	521ffd443b
5:150897269 FAT2 C>T	5	150897269	150897269	C	T	FAT2	c.11375G>A	NM_001447.3	NP_001438.1:p.(Arg3792Gln)	NC_000005.9:g.150897269C>T	(Likely) benign	1 lab	5220363741
X:49063218 CACNA1F C>T	X	49063218	49063218	C	T	CACNA1F	c.5330G>A	NM_001256789.3	NP_001243718.1:p.(Arg1777His)	NC_000023.10:g.49063218C>T	VUS	1 lab	522112e9ae
18:67833295 RTTN C>T	18	67833295	67833295	C	T	RTTN	c.1929+3G>A	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67833295C>T	(Likely) benign	1 lab	52213eac73
5:147473927 SPINK5 A>G	5	147473927	147473927	A	G	SPINK5	c.677A>G	NM_006846.4	NP_006837.2:p.(Lys226Arg)	NC_000005.9:g.147473927A>G	(Likely) benign	1 lab	5223340b5f
15:89398259 ACAN G>A	15	89398259	89398259	G	A	ACAN	c.2443G>A	NM_001369268.1	NP_001356197.1:p.(Val815Met)	NC_000015.9:g.89398259G>A	(Likely) benign	1 lab	522355d581
2:109381037 RANBP2 G>C	2	109381037	109381037	G	C	RANBP2	c.4042G>C	NM_006267.4	NP_006258.3:p.(Val1348Leu)	NC_000002.11:g.109381037G>C	(Likely) benign	1 lab	20c97a09e1
17:62041079 SCN4A G>A	17	62041079	62041079	G	A	SCN4A	c.1559C>T	NM_000334.4	NP_000325.4:p.(Pro520Leu)	NC_000017.10:g.62041079G>A	VUS	1 lab	5225000dcc
10:12155063 DHTKD1 G>A	10	12155063	12155063	G	A	DHTKD1	c.2319G>A	NM_018706.7	NP_061176.4:p.(Pro773=)	NC_000010.10:g.12155063G>A	VUS	1 lab	522737e5a5
16:2152145 PKD1 C>T	16	2152145	2152145	C	T	PKD1	c.9314G>A	NM_001009944.3	NP_001009944.3:p.(Arg3105Gln)	NC_000016.9:g.2152145C>T	VUS	1 lab	522ae47663
19:46914512 CCDC8 CT>C	19	46914512	46914513	CT	C	CCDC8	c.1555del	NM_032040.5	NP_114429.2:p.(Arg519GlyfsTer3)	NC_000019.9:g.46914513del	(Likely) benign	1 lab	522bd972e8
7:39990749 CDK13 C>T	7	39990749	39990749	C	T	CDK13	c.509C>T	NM_003718.5	NP_003709.3:p.(Ala170Val)	NC_000007.13:g.39990749C>T	VUS	1 lab	522dc74718
16:15844129 MYH11 C>T	16	15844129	15844129	C	T	MYH11	c.1924G>A	NM_002474.3	NP_002465.1:p.(Ala642Thr)	NC_000016.9:g.15844129C>T	VUS	1 lab	523091c10a
21:47544826 COL6A2 G>A	21	47544826	47544826	G	A	COL6A2	c.1762G>A	NM_001849.4	NP_001840.3:p.(Gly588Ser)	NC_000021.8:g.47544826G>A	VUS	1 lab	5230affbd1
14:92441008 TRIP11 G>A	14	92441008	92441008	G	A	TRIP11	c.5537C>T	NM_004239.4	NP_004230.2:p.(Thr1846Ile)	NC_000014.8:g.92441008G>A	VUS	1 lab	5230e95f5e
21:43413340 ZBTB21 G>A	21	43413340	43413340	G	A	ZBTB21	c.865C>T	NM_001098402.2	NP_001091872.1:p.(Pro289Ser)	NC_000021.8:g.43413340G>A	VUS	1 lab	5230edfc18
17:40690506 NAGLU A>G	17	40690506	40690506	A	G	NAGLU	c.678+3A>G	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40690506A>G	VUS	1 lab	52323b740d
3:48265089 CAMP GC>G	3	48265089	48265092	GC	G	CAMP	c.91del	NM_004345.5	NP_004336.4:p.(Gln31ArgfsTer13)	NC_000003.11:g.48265092del	VUS	1 lab	523321ac6c
1:152278643 FLG A>G	1	152278643	152278643	A	G	FLG	c.8719T>C	NM_002016.2	NP_002007.1:p.(Trp2907Arg)	NC_000001.10:g.152278643A>G	(Likely) benign	1 lab	5234ad1c05
11:71208537 NADSYN1 G>A	11	71208537	71208537	G	A	NADSYN1	c.1773G>A	NM_018161.5	NP_060631.2:p.(Met591Ile)	NC_000011.9:g.71208537G>A	(Likely) benign	1 lab	5235890fc3
9:35805878 NPR2 C>T	9	35805878	35805878	C	T	NPR2	c.2099C>T	NM_003995.4	NP_003986.2:p.(Thr700Ile)	NC_000009.11:g.35805878C>T	VUS	1 lab	52370353a7
7:143018814 CLCN1 G>C	7	143018814	143018814	G	C	CLCN1	c.569G>C	NM_000083.3	NP_000074.3:p.(Gly190Ala)	NC_000007.13:g.143018814G>C	(Likely) pathogenic	1 lab	52371df17c
19:51171339 SHANK1 A>C	19	51171339	51171339	A	C	SHANK1	c.3878T>G	NM_016148.5	NP_057232.2:p.(Phe1293Cys)	NC_000019.9:g.51171339A>C	VUS	1 lab	52387b00b3
22:36681781 MYH9 G>C	22	36681781	36681781	G	C	MYH9	c.5197C>G	NM_002473.6	NP_002464.1:p.(Gln1733Glu)	NC_000022.10:g.36681781G>C	VUS	1 lab	523aa1c202
3:124774654 HEG1 GGCC>G	3	124774654	124774661	GGCC	G	HEG1	c.78_80del	NM_020733.2	NP_065784.1:p.(Ala27del)	NC_000003.11:g.124774659_124774661del	(Likely) benign	1 lab	523be302e0
2:170025187 LRP2 C>T	2	170025187	170025187	C	T	LRP2	c.11498-1G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170025187C>T	(Likely) pathogenic	1 lab	523cd3fc47
2:166903399 SCN1A C>G	2	166903399	166903399	C	G	SCN1A	c.1258G>C	NM_001165963.4	NP_001159435.1:p.(Ala420Pro)	NC_000002.11:g.166903399C>G	(Likely) pathogenic	1 lab	523d7fb2df
1:120510775 NOTCH2 CA>C	1	120510775	120510776	CA	C	NOTCH2	c.1188del	NM_024408.4	NP_077719.2:p.(Asn396LysfsTer39)	NC_000001.10:g.120510776del	VUS	1 lab	523ec9abbe
12:110029086 MVK C>A	12	110029086	110029086	C	A	MVK	c.809C>A	NM_000431.4	NP_000422.1:p.(Ala270Asp)	NC_000012.11:g.110029086C>A	VUS	1 lab	523f737899
6:51897885 PKHD1 C>T	6	51897885	51897885	C	T	PKHD1	c.3307G>A	NM_138694.4	NP_619639.3:p.(Val1103Ile)	NC_000006.11:g.51897885C>T	(Likely) benign	1 lab	20d11aebad
22:42608977 TCF20 C>T	22	42608977	42608977	C	T	TCF20	c.2335G>A	NM_001378418.1	NP_001365347.1:p.(Ala779Thr)	NC_000022.10:g.42608977C>T	(Likely) benign	1 lab	5242aff6b7
22:29707995 GAS2L1 C>T	22	29707995	29707995	C	T	GAS2L1	c.1555C>T	NM_001362985.3	NP_001349914.1:p.(Arg519Trp)	NC_000022.10:g.29707995C>T	VUS	1 lab	5242fa0d23
8:67874110 TCF24 AC>A	8	67874110	67874112	AC	A	TCF24	c.-24+1del	NM_001193502.2	NP_001180431.1:p.?	NC_000008.10:g.67874112del	VUS	1 lab	524478ae16
9:135946954 CEL G>A	9	135946954	135946954	G	A	CEL	c.2065G>A	NM_001807.6	NP_001798.3:p.(Ala689Thr)	NC_000009.11:g.135946954G>A	(Likely) benign	1 lab	5244cca97c
4:186343634 UFSP2 C>T	4	186343634	186343634	C	T	UFSP2	c.82+5G>A	NM_018359.5	NP_060829.2:p.?	NC_000004.11:g.186343634C>T	VUS	1 lab	524580408d
19:39998195 DLL3 T>C	19	39998195	39998195	T	C	DLL3	c.1610T>C	NM_203486.3	NP_982353.1:p.(Val537Ala)	NC_000019.9:g.39998195T>C	VUS	1 lab	524726d3b8
15:100636587 ADAMTS17 C>T	15	100636587	100636587	C	T	ADAMTS17	c.2111G>A	NM_139057.4	NP_620688.2:p.(Gly704Asp)	NC_000015.9:g.100636587C>T	VUS	1 lab	52473c6a61
11:4661328 OR51D1 A>G	11	4661328	4661328	A	G	OR51D1	c.308A>G	NM_001004751.3	NP_001004751.1:p.(Gln103Arg)	NC_000011.9:g.4661328A>G	(Likely) benign	1 lab	5248c1d8ba
3:58852347 CFAP20DC T>C	3	58852347	58852347	T	C	CFAP20DC	c.1203A>G	NM_001394063.1	NP_001380992.1:p.(Gln401=)	NC_000003.11:g.58852347T>C	VUS	1 lab	524f0b64ca
17:17699962 RAI1 AC>A	17	17699962	17699964	AC	A	RAI1	c.3702del	NM_030665.4	NP_109590.3:p.(Lys1235ArgfsTer80)	NC_000017.10:g.17699964del	(Likely) pathogenic	1 lab	2022fe9f2d
18:19752072 GATA6 TACCACCACCACC>T	18	19752072	19752103	TACCACCACCACC	T	GATA6	c.987_998del	NM_005257.6	NP_005248.2:p.(His330_His333del)	NC_000018.9:g.19752092_19752103del	(Likely) benign	1 lab	524935f502
9:131331096 SPTAN1 A>G	9	131331096	131331096	A	G	SPTAN1	c.283A>G	NM_001130438.3	NP_001123910.1:p.(Asn95Asp)	NC_000009.11:g.131331096A>G	VUS	1 lab	524a808c0d
12:89919653 POC1B C>T	12	89919653	89919653	C	T	POC1B	c.15+5G>A	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89919653C>T	(Likely) benign	1 lab	524ae99181
16:89805125 FANCA G>C	16	89805125	89805125	G	C	FANCA	c.4261-9C>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805125G>C	VUS	1 lab	524b8c5164
1:227081798 PSEN2 C>T	1	227081798	227081798	C	T	PSEN2	c.1163C>T	NM_000447.3	NP_000438.2:p.(Thr388Met)	NC_000001.10:g.227081798C>T	VUS	1 lab	524bb9540a
20:34025402 GDF5 C>T	20	34025402	34025402	C	T	GDF5	c.307G>A	NM_000557.5	NP_000548.2:p.(Gly103Ser)	NC_000020.10:g.34025402C>T	(Likely) benign	1 lab	524c288390
3:52430486 DNAH1 G>A	3	52430486	52430486	G	A	DNAH1	c.11362G>A	NM_015512.5	NP_056327.4:p.(Gly3788Ser)	NC_000003.11:g.52430486G>A	VUS	1 lab	524c9dcc38
X:53228047 KDM5C A>G	X	53228047	53228047	A	G	KDM5C	c.2267T>C	NM_004187.5	NP_004178.2:p.(Leu756Pro)	NC_000023.10:g.53228047A>G	VUS	1 lab	2023876388
2:80772120 CTNNA2 C>A	2	80772120	80772120	C	A	CTNNA2	c.1304C>A	NM_001282597.3	NP_001269526.1:p.(Ala435Asp)	NC_000002.11:g.80772120C>A	VUS	1 lab	524cabedac
X:70517283 NONO G>A	X	70517283	70517283	G	A	NONO	c.1000G>A	NM_007363.5	NP_031389.3:p.(Val334Met)	NC_000023.10:g.70517283G>A	VUS	1 lab	524cca4e6e
1:170695488 PRRX1 G>C	1	170695488	170695488	G	C	PRRX1	c.545G>C	NM_022716.4	NP_073207.1:p.(Arg182Pro)	NC_000001.10:g.170695488G>C	VUS	1 lab	524ddb1ba3
3:149485205 ANKUB1 G>A	3	149485205	149485205	G	A	ANKUB1	c.1244C>T	NM_001144960.3	NP_001138432.1:p.(Ser415Leu)	NC_000003.11:g.149485205G>A	(Likely) benign	1 lab	524e51db10
3:98312176 CPOX T>C	3	98312176	98312176	T	C	CPOX	c.173A>G	NM_000097.7	NP_000088.3:p.(Gln58Arg)	NC_000003.11:g.98312176T>C	VUS	1 lab	524f44c080
X:135829673 ARHGEF6 T>C	X	135829673	135829673	T	C	ARHGEF6	c.328A>G	NM_004840.3	NP_004831.1:p.(Thr110Ala)	NC_000023.10:g.135829673T>C	VUS	1 lab	525101fc5d
20:31506383 EFCAB8 G>A	20	31506383	31506383	G	A	EFCAB8	c.2274+3G>A	NM_001143967.2	NP_001137439.1:p.?	NC_000020.10:g.31506383G>A	(Likely) benign	1 lab	5251efee87
9:139393656 NOTCH1 G>A	9	139393656	139393656	G	A	NOTCH1	c.5990C>T	NM_017617.5	NP_060087.3:p.(Thr1997Met)	NC_000009.11:g.139393656G>A	VUS	1 lab	5252b142a4
16:2160798 PKD1 G>C	16	2160798	2160798	G	C	PKD1	c.4370C>G	NM_001009944.3	NP_001009944.3:p.(Ser1457Ter)	NC_000016.9:g.2160798G>C	(Likely) pathogenic	1 lab	5252e21f95
11:118626215 DDX6 T>TA	11	118626215	118626226	T	TA	DDX6	c.1175-4dup	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118626226dup	(Likely) benign	1 lab	52530a734d
2:217342931 SMARCAL1 T>A	2	217342931	217342931	T	A	SMARCAL1	c.2534T>A	NM_014140.4	NP_054859.2:p.(Leu845Gln)	NC_000002.11:g.217342931T>A	VUS	1 lab	52547008d5
17:7811239 CHD3 G>A	17	7811239	7811239	G	A	CHD3	c.5054G>A	NM_001005273.3	NP_001005273.1:p.(Arg1685Gln)	NC_000017.10:g.7811239G>A	VUS	1 lab	525500456f
21:47754432 PCNT A>G	21	47754432	47754432	A	G	PCNT	c.389A>G	NM_006031.6	NP_006022.3:p.(His130Arg)	NC_000021.8:g.47754432A>G	(Likely) benign	1 lab	5258b5419d
5:236634 SDHA G>A	5	236634	236634	G	A	SDHA	c.1352G>A	NM_004168.4	NP_004159.2:p.(Arg451His)	NC_000005.9:g.236634G>A	VUS	1 lab	525babd005
10:108427537 SORCS1 C>A	10	108427537	108427537	C	A	SORCS1	c.2213G>T	NM_052918.5	NP_443150.3:p.(Ser738Ile)	NC_000010.10:g.108427537C>A	(Likely) benign	1 lab	525e8b7a83
2:179604215 TTN T>G	2	179604215	179604215	T	G	TTN	c.13745A>C	NM_001267550.2	NP_001254479.2:p.(Glu4582Ala)	NC_000002.11:g.179604215T>G	VUS	1 lab	5261866eae
15:33855075 RYR3 A>T	15	33855075	33855075	A	T	RYR3	c.1010A>T	NM_001036.6	NP_001027.3:p.(Asp337Val)	NC_000015.9:g.33855075A>T	VUS	1 lab	5261902535
15:41021785 RAD51 A>G	15	41021785	41021785	A	G	RAD51	c.727A>G	NM_002875.5	NP_002866.2:p.(Met243Val)	NC_000015.9:g.41021785A>G	(Likely) benign	1 lab	52619c833e
12:116428822 MED13L T>C	12	116428822	116428822	T	C	MED13L	c.3934+3A>G	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116428822T>C	(Likely) benign	1 lab	5263bb3893
22:42610361 TCF20 T>TTGC	22	42610361	42610376	T	TTGC	TCF20	c.948_950dup	NM_001378418.1	NP_001365347.1:p.(Gln317dup)	NC_000022.10:g.42610374_42610376dup	VUS	1 lab	5264bb30fb
12:112326725 MAPKAPK5 T>G	12	112326725	112326725	T	G	MAPKAPK5	c.1137T>G	NM_003668.4	NP_003659.2:p.(His379Gln)	NC_000012.11:g.112326725T>G	VUS	1 lab	52651bb7d1
21:47769636 PCNT A>G	21	47769636	47769636	A	G	PCNT	c.1246A>G	NM_006031.6	NP_006022.3:p.(Ile416Val)	NC_000021.8:g.47769636A>G	(Likely) benign	1 lab	5267722528
11:63978574 FERMT3 GAGA>G	11	63978574	63978587	GAGA	G	FERMT3	c.456_458del	NM_031471.6	NP_113659.3:p.(Lys153del)	NC_000011.9:g.63978585_63978587del	(Likely) benign	1 lab	52680bac1a
12:6690528 CHD4 T>C	12	6690528	6690528	T	C	CHD4	c.4708A>G	NM_001273.5	NP_001264.2:p.(Ser1570Gly)	NC_000012.11:g.6690528T>C	VUS	1 lab	5268675a4e
2:149220218 MBD5 A>G	2	149220218	149220218	A	G	MBD5	c.181A>G	NM_018328.5	NP_060798.2:p.(Lys61Glu)	NC_000002.11:g.149220218A>G	VUS	1 lab	202394447e
2:128016977 ERCC3 C>T	2	128016977	128016977	C	T	ERCC3	c.2112G>A	NM_000122.1	NP_000113.1:p.(Ser704=)	NC_000002.11:g.128016977C>T	(Likely) benign	1 lab	20d18438f5
X:57936620 ZXDA G>C	X	57936620	57936620	G	C	ZXDA	c.235C>G	NM_007156.5	NP_009087.1:p.(His79Asp)	NC_000023.10:g.57936620G>C	(Likely) benign	1 lab	526a735e08
13:113851352 PCID2 C>T	13	113851352	113851352	C	T	PCID2	c.266+140G>A	NM_001127202.4	NP_001120674.1:p.?	NC_000013.10:g.113851352C>T	VUS	1 lab	526caab30c
2:197586383 CCDC150 A>C	2	197586383	197586383	A	C	CCDC150	c.2397A>C	NM_001080539.2	NP_001074008.1:p.(Lys799Asn)	NC_000002.11:g.197586383A>C	VUS	1 lab	526db768ea
8:22052073 BMP1 C>G	8	22052073	22052073	C	G	BMP1	c.1413C>G	NM_006129.5	NP_006120.1:p.(Phe471Leu)	NC_000008.10:g.22052073C>G	VUS	1 lab	52fa21a516
3:33155767 CRTAP C>A	3	33155767	33155767	C	A	CRTAP	c.198C>A	NM_006371.5	NP_006362.1:p.(Tyr66Ter)	NC_000003.11:g.33155767C>A	(Likely) pathogenic	1 lab	526dec80a5
5:172744882 STC2 C>T	5	172744882	172744882	C	T	STC2	c.877G>A	NM_003714.3	NP_003705.1:p.(Glu293Lys)	NC_000005.9:g.172744882C>T	VUS	1 lab	526dff566e
8:29924437 SARAF T>TGTAACGGTGGG	8	29924437	29924438	T	TGTAACGGTGGG	SARAF	c.701-4_701-3insCCCACCGTTAC	NM_016127.6	NP_057211.4:p.?	NC_000008.10:g.29924437_29924438insGTAACGGTGGG	(Likely) benign	1 lab	526e822af4
2:61621981 USP34 T>C	2	61621981	61621981	T	C	USP34	c.753+7A>G	NM_014709.4	NP_055524.3:p.?	NC_000002.11:g.61621981T>C	VUS	1 lab	526eb09676
13:110817331 COL4A1 G>A	13	110817331	110817331	G	A	COL4A1	c.4028C>T	NM_001845.6	NP_001836.3:p.(Pro1343Leu)	NC_000013.10:g.110817331G>A	VUS	1 lab	526ee0640f
10:18828262 CACNB2 G>A	10	18828262	18828262	G	A	CACNB2	c.1592G>A	NM_201596.3	NP_963890.2:p.(Arg531His)	NC_000010.10:g.18828262G>A	VUS	1 lab	526ff16b43
16:71015477 HYDIN C>T	16	71015477	71015477	C	T	HYDIN	c.4333-6G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71015477C>T	VUS	1 lab	5273073305
16:188367 NPRL3 T>G	16	188367	188367	T	G	NPRL3	c.-67-34A>C	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.188367T>G	VUS	1 lab	52730dc75e
20:3209184 SLC4A11 G>T	20	3209184	3209184	G	T	SLC4A11	c.2362C>A	NM_001174089.2	NP_001167560.1:p.(Arg788Ser)	NC_000020.10:g.3209184G>T	VUS	1 lab	52730f4432
19:4037806 PIAS4 A>G	19	4037806	4037806	A	G	PIAS4	c.1466A>G	NM_015897.4	NP_056981.2:p.(Glu489Gly)	NC_000019.9:g.4037806A>G	(Likely) benign	1 lab	5273dfe216
9:334222 DOCK8 C>T	9	334222	334222	C	T	DOCK8	c.1126-3C>T	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.334222C>T	(Likely) benign	1 lab	527547bc75
6:87969622 ZNF292 A>G	6	87969622	87969622	A	G	ZNF292	c.6275A>G	NM_015021.3	NP_055836.1:p.(Lys2092Arg)	NC_000006.11:g.87969622A>G	(Likely) benign	1 lab	52769f6f62
13:76379719 LMO7 G>A	13	76379719	76379719	G	A	LMO7	c.1019G>A	NM_001306080.2	NP_001293009.1:p.(Ser340Asn)	NC_000013.10:g.76379719G>A	VUS	1 lab	5276ee8960
X:39931949 BCOR G>C	X	39931949	39931949	G	C	BCOR	c.2650C>G	NM_001123385.2	NP_001116857.1:p.(Leu884Val)	NC_000023.10:g.39931949G>C	VUS	1 lab	5278a6bf80
2:55122081 EML6 C>G	2	55122081	55122081	C	G	EML6	c.2772C>G	NM_001039753.4	NP_001034842.2:p.(Ile924Met)	NC_000002.11:g.55122081C>G	VUS	1 lab	527a90d32d
X:77244027 ATP7A A>G	X	77244027	77244027	A	G	ATP7A	c.410A>G	NM_000052.7	NP_000043.4:p.(Asn137Ser)	NC_000023.10:g.77244027A>G	(Likely) benign	1 lab	527bca82b4
9:98221972 PTCH1 C>T	9	98221972	98221972	C	T	PTCH1	c.2797G>A	NM_000264.5	NP_000255.2:p.(Ala933Thr)	NC_000009.11:g.98221972C>T	VUS	1 lab	527c4fc55c
4:5754565 EVC C>T	4	5754565	5754565	C	T	EVC	c.1101C>T	NM_153717.3	NP_714928.1:p.(Asp367=)	NC_000004.11:g.5754565C>T	(Likely) benign	1 lab	527fd32527
3:126226945 UROC1 G>T	3	126226945	126226945	G	T	UROC1	c.412-7C>A	NM_144639.3	NP_653240.1:p.?	NC_000003.11:g.126226945G>T	(Likely) benign	1 lab	5281149e47
19:15367884 BRD4 G>T	19	15367884	15367884	G	T	BRD4	c.1442C>A	NM_001379291.1	NP_001366220.1:p.(Ala481Asp)	NC_000019.9:g.15367884G>T	(Likely) benign	1 lab	528233f718
6:117128112 GPRC6A AT>A	6	117128112	117128114	AT	A	GPRC6A	c.755del	NM_148963.4	NP_683766.2:p.(Asn252IlefsTer11)	NC_000006.11:g.117128114del	VUS	1 lab	5282dcded4
3:188327388 LPP C>A	3	188327388	188327388	C	A	LPP	c.869C>A	NM_001375462.1	NP_001362391.1:p.(Ala290Asp)	NC_000003.11:g.188327388C>A	VUS	1 lab	52872c5c49
22:42915711 RRP7A G>T	22	42915711	42915711	G	T	RRP7A	c.73+9C>A	NM_015703.5	NP_056518.2:p.?	NC_000022.10:g.42915711G>T	(Likely) benign	1 lab	5287f811fb
20:58450319 SYCP2 T>C	20	58450319	58450319	T	C	SYCP2	c.3349+7A>G	NM_014258.4	NP_055073.2:p.?	NC_000020.10:g.58450319T>C	VUS	1 lab	528b1af54d
4:114376916 CAMK2D T>G	4	114376916	114376916	T	G	CAMK2D	c.1597A>C	NM_001321571.2	NP_001308500.1:p.(Ile533Leu)	NC_000004.11:g.114376916T>G	VUS	1 lab	528b6c0ed9
19:55420633 NCR1 C>T	19	55420633	55420633	C	T	NCR1	c.385C>T	NM_004829.7	NP_004820.2:p.(His129Tyr)	NC_000019.9:g.55420633C>T	VUS	1 lab	528ce5fe6d
11:44257920 EXT2 G>A	11	44257920	44257920	G	A	EXT2	c.2013G>A	NM_207122.2	NP_997005.1:p.(Val671=)	NC_000011.9:g.44257920G>A	(Likely) benign	1 lab	528d71983c
7:100853953 PLOD3 C>A	7	100853953	100853953	C	A	PLOD3	c.1360G>T	NM_001084.5	NP_001075.1:p.(Gly454Cys)	NC_000007.13:g.100853953C>A	VUS	1 lab	528e5a1bab
22:45939338 FBLN1 C>T	22	45939338	45939338	C	T	FBLN1	c.1253C>T	NM_006486.3	NP_006477.3:p.(Thr418Met)	NC_000022.10:g.45939338C>T	VUS	1 lab	528e947b7d
20:31368244 DNMT3B G>C	20	31368244	31368244	G	C	DNMT3B	c.115G>C	NM_006892.4	NP_008823.1:p.(Glu39Gln)	NC_000020.10:g.31368244G>C	VUS	1 lab	528fd8410d
12:121426668 HNF1A AG>A	12	121426668	121426669	AG	A	HNF1A	c.360del	NM_000545.8	NP_000536.6:p.(Lys120AsnfsTer35)	NC_000012.11:g.121426669del	(Likely) pathogenic	1 lab	5290dcb859
1:152276305 FLG C>G	1	152276305	152276305	C	G	FLG	c.11057G>C	NM_002016.2	NP_002007.1:p.(Gly3686Ala)	NC_000001.10:g.152276305C>G	VUS	1 lab	529255367f
9:103055315 INVS G>A	9	103055315	103055315	G	A	INVS	c.2776G>A	NM_014425.5	NP_055240.2:p.(Ala926Thr)	NC_000009.11:g.103055315G>A	(Likely) benign	1 lab	52927a2b4a
14:50628240 SOS2 C>G	14	50628240	50628240	C	G	SOS2	c.1156G>C	NM_006939.4	NP_008870.2:p.(Asp386His)	NC_000014.8:g.50628240C>G	VUS	1 lab	529369e9af
6:35195351 SCUBE3 T>C	6	35195351	35195351	T	C	SCUBE3	c.86-6T>C	NM_152753.4	NP_689966.2:p.?	NC_000006.11:g.35195351T>C	VUS	1 lab	5294372aa4
13:32921049 BRCA2 A>C	13	32921049	32921049	A	C	BRCA2	c.7007+16A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32921049A>C	(Likely) benign	1 lab	529520eb3c
22:45958958 FBLN1 A>G	22	45958958	45958958	A	G	FBLN1	c.1698-11433A>G	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45958958A>G	(Likely) benign	1 lab	52957828e5
12:49373292 WNT1 A>C	12	49373292	49373292	A	C	WNT1	c.146A>C	NM_005430.4	NP_005421.1:p.(Asp49Ala)	NC_000012.11:g.49373292A>C	VUS	1 lab	52958c2b90
14:62233635 SNAPC1 A>T	14	62233635	62233635	A	T	SNAPC1	c.170A>T	NM_003082.4	NP_003073.1:p.(Glu57Val)	NC_000014.8:g.62233635A>T	VUS	1 lab	5295957c0a
7:48563974 ABCA13 C>T	7	48563974	48563974	C	T	ABCA13	c.14182C>T	NM_152701.5	NP_689914.3:p.(Arg4728Ter)	NC_000007.13:g.48563974C>T	VUS	1 lab	5295d7ae79
15:45364617 SORD G>A	15	45364617	45364617	G	A	SORD	c.889G>A	NM_003104.6	NP_003095.2:p.(Val297Met)	NC_000015.9:g.45364617G>A	(Likely) benign	1 lab	20da5571f4
16:2147429 PKD1 G>C	16	2147429	2147429	G	C	PKD1	c.10296C>G	NM_001009944.3	NP_001009944.3:p.(Ser3432Arg)	NC_000016.9:g.2147429G>C	VUS	1 lab	529706f664
9:124081126 GSN G>A	9	124081126	124081126	G	A	GSN	c.1159G>A	NM_198252.3	NP_937895.1:p.(Gly387Ser)	NC_000009.11:g.124081126G>A	(Likely) benign	1 lab	529866b9ab
17:36614341 ARHGAP23 C>T	17	36614341	36614341	C	T	ARHGAP23	c.64-5C>T	NM_001199417.2	NP_001186346.1:p.?	NC_000017.10:g.36614341C>T	(Likely) benign	1 lab	52987d3702
6:116439060 NT5DC1 G>A	6	116439060	116439060	G	A	NT5DC1	c.481G>A	NM_152729.3	NP_689942.2:p.(Asp161Asn)	NC_000006.11:g.116439060G>A	VUS	1 lab	529a100ecd
2:219920419 IHH C>T	2	219920419	219920419	C	T	IHH	c.746G>A	NM_002181.4	NP_002172.2:p.(Arg249His)	NC_000002.11:g.219920419C>T	VUS	1 lab	529cd23069
8:11607761 GATA4 G>A	8	11607761	11607761	G	A	GATA4	c.912+16G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11607761G>A	(Likely) benign	1 lab	529cf2d464
7:82585140 PCLO T>C	7	82585140	82585140	T	C	PCLO	c.5129A>G	NM_033026.6	NP_149015.2:p.(Asp1710Gly)	NC_000007.13:g.82585140T>C	VUS	1 lab	529d5717ae
15:63901375 HERC1 G>A	15	63901375	63901375	G	A	HERC1	c.14491C>T	NM_003922.4	NP_003913.3:p.(Arg4831Cys)	NC_000015.9:g.63901375G>A	VUS	1 lab	529e636ec4
15:82533673 EFL1 C>T	15	82533673	82533673	C	T	EFL1	c.316G>A	NM_024580.6	NP_078856.4:p.(Ala106Thr)	NC_000015.9:g.82533673C>T	VUS	1 lab	529f791d67
6:91271393 MAP3K7 GA>G	6	91271393	91271396	GA	G	MAP3K7	c.298-8del	NM_145331.3	NP_663304.1:p.?	NC_000006.11:g.91271396del	(Likely) benign	1 lab	52a02033d4
9:32632072 TAF1L G>A	9	32632072	32632072	G	A	TAF1L	c.3506C>T	NM_153809.2	NP_722516.1:p.(Thr1169Ile)	NC_000009.11:g.32632072G>A	(Likely) benign	1 lab	52a033673f
4:20544109 SLIT2 C>T	4	20544109	20544109	C	T	SLIT2	c.2144-8C>T	NM_004787.4	NP_004778.1:p.?	NC_000004.11:g.20544109C>T	(Likely) benign	1 lab	20dd34b836
20:61461912 COL9A3 A>G	20	61461912	61461912	A	G	COL9A3	c.1259A>G	NM_001853.4	NP_001844.3:p.(Gln420Arg)	NC_000020.10:g.61461912A>G	(Likely) benign	1 lab	52a4af2894
11:66638540 PC C>A	11	66638540	66638540	C	A	PC	c.616G>T	NM_001040716.2	NP_001035806.1:p.(Val206Leu)	NC_000011.9:g.66638540C>A	VUS	1 lab	52a7fab9c9
X:20081635 MAP7D2 T>C	X	20081635	20081635	T	C	MAP7D2	c.269A>G	NM_001168465.2	NP_001161937.1:p.(Gln90Arg)	NC_000023.10:g.20081635T>C	(Likely) benign	1 lab	52abf7100b
19:40368492 FCGBP CAGATGAAA>C	19	40368492	40368500	CAGATGAAA	C	FCGBP	c.12848_12855del	NM_003890.3	NP_003881.2:p.(Leu4283ArgfsTer16)	NC_000019.9:g.40368493_40368500del	(Likely) benign	1 lab	52ac09dffa
2:152476266 NEB T>C	2	152476266	152476266	T	C	NEB	c.10571A>G	NM_001164508.2	NP_001157980.2:p.(Lys3524Arg)	NC_000002.11:g.152476266T>C	VUS	1 lab	52ac530e8d
14:105417987 AHNAK2 T>G	14	105417987	105417987	T	G	AHNAK2	c.3801A>C	NM_138420.4	NP_612429.2:p.(Glu1267Asp)	NC_000014.8:g.105417987T>G	VUS	1 lab	52ad175027
5:127474311 SLC12A2 T>A	5	127474311	127474311	T	A	SLC12A2	c.1431T>A	NM_001046.3	NP_001037.1:p.(Phe477Leu)	NC_000005.9:g.127474311T>A	VUS	1 lab	52adf06d52
17:42428833 GRN C>G	17	42428833	42428833	C	G	GRN	c.933+5C>G	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42428833C>G	(Likely) benign	1 lab	52af90eae2
9:140637830 EHMT1 G>T	9	140637830	140637830	G	T	EHMT1	c.831G>T	NM_024757.5	NP_079033.4:p.(Leu277Phe)	NC_000009.11:g.140637830G>T	(Likely) benign	1 lab	52b0c7f15d
4:1895975 NSD2 C>T	4	1895975	1895975	C	T	NSD2	c.-29-6378C>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1895975C>T	(Likely) benign	1 lab	52b18cb4f9
1:144952220 PDE4DIP C>T	1	144952220	144952220	C	T	PDE4DIP	c.697G>A	NM_001395426.1	NP_001382355.1:p.(Ala233Thr)	NC_000001.10:g.144952220C>T	VUS	1 lab	52b265955c
4:1017746 FGFRL1 C>T	4	1017746	1017746	C	T	FGFRL1	c.575C>T	NM_001004356.3	NP_001004356.1:p.(Thr192Met)	NC_000004.11:g.1017746C>T	(Likely) benign	1 lab	52b812a3e9
16:78466534 WWOX G>A	16	78466534	78466534	G	A	WWOX	c.941G>A	NM_016373.4	NP_057457.1:p.(Arg314His)	NC_000016.9:g.78466534G>A	(Likely) benign	1 lab	52b839a009
3:119101924 ARHGAP31 A>G	3	119101924	119101924	A	G	ARHGAP31	c.540-7A>G	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119101924A>G	(Likely) benign	1 lab	52b86642b8
2:84838943 DNAH6 G>A	2	84838943	84838943	G	A	DNAH6	c.3440G>A	NM_001370.2	NP_001361.1:p.(Arg1147Gln)	NC_000002.11:g.84838943G>A	VUS	1 lab	2027a667a6
17:42932359 EFTUD2 T>C	17	42932359	42932359	T	C	EFTUD2	c.2059A>G	NM_004247.4	NP_004238.3:p.(Met687Val)	NC_000017.10:g.42932359T>C	VUS	1 lab	52bcc2667a
16:30768272 PHKG2 G>A	16	30768272	30768272	G	A	PHKG2	c.1075G>A	NM_000294.3	NP_000285.1:p.(Gly359Arg)	NC_000016.9:g.30768272G>A	VUS	1 lab	52bd3838a9
18:2707798 SMCHD1 C>T	18	2707798	2707798	C	T	SMCHD1	c.2147-7C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2707798C>T	(Likely) benign	1 lab	52be0ac68b
17:61681948 TACO1 GTC>G	17	61681948	61681950	GTC	G	TACO1	c.336_337del	NM_016360.4	NP_057444.2:p.(Cys112TrpfsTer11)	NC_000017.10:g.61681949_61681950del	VUS	1 lab	52be2aaa99
9:131370156 SPTAN1 G>A	9	131370156	131370156	G	A	SPTAN1	c.4172G>A	NM_001130438.3	NP_001123910.1:p.(Arg1391Lys)	NC_000009.11:g.131370156G>A	VUS	1 lab	52beee40ef
17:27805299 TAOK1 TAGC>T	17	27805299	27805306	TAGC	T	TAOK1	c.388_390del	NM_020791.4	NP_065842.1:p.(Ala130del)	NC_000017.10:g.27805304_27805306del	VUS	1 lab	52c04f55cf
2:179417643 TTN A>G	2	179417643	179417643	A	G	TTN	c.89984T>C	NM_001267550.2	NP_001254479.2:p.(Ile29995Thr)	NC_000002.11:g.179417643A>G	VUS	1 lab	52c536f61c
15:66209163 MEGF11 T>TAA	15	66209163	66209165	T	TAA	MEGF11	c.2215+2_2215+3insTT	NM_001385028.1	NP_001371957.1:p.?	NC_000015.9:g.66209164_66209165insAA	(Likely) benign	1 lab	52c555dc8b
22:42609872 TCF20 A>C	22	42609872	42609872	A	C	TCF20	c.1440T>G	NM_001378418.1	NP_001365347.1:p.(Thr480=)	NC_000022.10:g.42609872A>C	(Likely) benign	1 lab	52c581270c
2:176957914 HOXD13 C>G	2	176957914	176957914	C	G	HOXD13	c.296C>G	NM_000523.4	NP_000514.2:p.(Pro99Arg)	NC_000002.11:g.176957914C>G	VUS	1 lab	52c5ed6547
15:89850873 FANCI CCT>C	15	89850873	89850875	CCT	C	FANCI	c.3622_3623del	NM_001113378.2	NP_001106849.1:p.(Leu1208ValfsTer11)	NC_000015.9:g.89850874_89850875del	(Likely) pathogenic	1 lab	52c6dec34d
X:118230653 KIAA1210 C>T	X	118230653	118230653	C	T	KIAA1210	c.650G>A	NM_001394962.1	NP_001381891.1:p.(Ser217Asn)	NC_000023.10:g.118230653C>T	(Likely) benign	1 lab	52c74597f4
11:55371277 OR4C11 G>C	11	55371277	55371277	G	C	OR4C11	c.573C>G	NM_001004700.3	NP_001004700.2:p.(Tyr191Ter)	NC_000011.9:g.55371277G>C	VUS	1 lab	52c8063381
3:136136813 STAG1 C>T	3	136136813	136136813	C	T	STAG1	c.2110G>A	NM_005862.3	NP_005853.2:p.(Ala704Thr)	NC_000003.11:g.136136813C>T	(Likely) benign	1 lab	52ca1e1242
11:62298689 AHNAK A>G	11	62298689	62298689	A	G	AHNAK	c.3200T>C	NM_001620.3	NP_001611.1:p.(Met1067Thr)	NC_000011.9:g.62298689A>G	VUS	1 lab	52cc12c68b
13:110813696 COL4A1 G>A	13	110813696	110813696	G	A	COL4A1	c.4483C>T	NM_001845.6	NP_001836.3:p.(Arg1495Cys)	NC_000013.10:g.110813696G>A	VUS	1 lab	52cdb2eaf4
2:88874683 EIF2AK3 T>G	2	88874683	88874683	T	G	EIF2AK3	c.2318A>C	NM_004836.7	NP_004827.4:p.(Asp773Ala)	NC_000002.11:g.88874683T>G	VUS	1 lab	52ce4fc736
15:45965832 SQOR C>T	15	45965832	45965832	C	T	SQOR	c.487C>T	NM_021199.4	NP_067022.1:p.(His163Tyr)	NC_000015.9:g.45965832C>T	(Likely) benign	1 lab	52cf11a4c7
7:42005653 GLI3 G>T	7	42005653	42005653	G	T	GLI3	c.3018C>A	NM_000168.6	NP_000159.3:p.(Ser1006Arg)	NC_000007.13:g.42005653G>T	(Likely) pathogenic	1 lab	52d00e9bc4
5:171326957 FBXW11 G>C	5	171326957	171326957	G	C	FBXW11	c.584C>G	NM_001378974.1	NP_001365903.1:p.(Thr195Ser)	NC_000005.9:g.171326957G>C	(Likely) benign	1 lab	52d0739ab0
5:145719436 POU4F3 T>C	5	145719436	145719436	T	C	POU4F3	c.446T>C	NM_002700.3	NP_002691.1:p.(Leu149Pro)	NC_000005.9:g.145719436T>C	(Likely) benign	1 lab	52d29faaf9
4:88929016 PKD2 G>T	4	88929016	88929016	G	T	PKD2	c.131G>T	NM_000297.4	NP_000288.1:p.(Gly44Val)	NC_000004.11:g.88929016G>T	VUS	1 lab	52d3a3ef9a
21:38884577 DYRK1A G>C	21	38884577	38884577	G	C	DYRK1A	c.2035G>C	NM_001396.4	NP_001387.2:p.(Ala679Pro)	NC_000021.8:g.38884577G>C	(Likely) benign	1 lab	20e3378309
9:6556167 GLDC T>C	9	6556167	6556167	T	C	GLDC	c.2188A>G	NM_000170.3	NP_000161.2:p.(Asn730Asp)	NC_000009.11:g.6556167T>C	VUS	1 lab	52d5f70521
5:113698505 KCNN2 G>A	5	113698505	113698505	G	A	KCNN2	c.669G>A	NM_021614.4	NP_067627.3:p.(Met223Ile)	NC_000005.9:g.113698505G>A	(Likely) benign	1 lab	52ebaebebd
16:2223350 TRAF7 A>G	16	2223350	2223350	A	G	TRAF7	c.962A>G	NM_032271.3	NP_115647.2:p.(Lys321Arg)	NC_000016.9:g.2223350A>G	VUS	1 lab	52d709b32c
7:73525979 LIMK1 A>G	7	73525979	73525979	A	G	LIMK1	c.1286A>G	NM_002314.4	NP_002305.1:p.(Asp429Gly)	NC_000007.13:g.73525979A>G	VUS	1 lab	52d9fe340e
12:56082003 ITGA7 G>A	12	56082003	56082003	G	A	ITGA7	c.3040C>T	NM_002206.3	NP_002197.2:p.(Arg1014Ter)	NC_000012.11:g.56082003G>A	(Likely) pathogenic	1 lab	52dea86e73
15:34048533 RYR3 G>A	15	34048533	34048533	G	A	RYR3	c.8542G>A	NM_001036.6	NP_001027.3:p.(Glu2848Lys)	NC_000015.9:g.34048533G>A	VUS	1 lab	52df913d94
3:48623012 COL7A1 C>T	3	48623012	48623012	C	T	COL7A1	c.3872G>A	NM_000094.4	NP_000085.1:p.(Ser1291Asn)	NC_000003.11:g.48623012C>T	(Likely) benign	1 lab	52e10615b0
10:100152187 PYROXD2 A>C	10	100152187	100152187	A	C	PYROXD2	c.1062+2T>G	NM_032709.3	NP_116098.2:p.?	NC_000010.10:g.100152187A>C	VUS	1 lab	52e198e60c
2:69590812 GFPT1 A>G	2	69590812	69590812	A	G	GFPT1	c.224-10T>C	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69590812A>G	(Likely) benign	1 lab	52e275e3b1
16:56459029 AMFR G>A	16	56459029	56459029	G	A	AMFR	c.211C>T	NM_001144.6	NP_001135.3:p.(Arg71Cys)	NC_000016.9:g.56459029G>A	VUS	1 lab	52e46d152f
19:46521622 CCDC61 A>C	19	46521622	46521622	A	C	CCDC61	c.1516A>C	NM_001267723.2	NP_001254652.1:p.(Asn506His)	NC_000019.9:g.46521622A>C	VUS	1 lab	52e49f891f
7:35288377 TBX20 C>T	7	35288377	35288377	C	T	TBX20	c.457G>A	NM_001077653.2	NP_001071121.1:p.(Val153Ile)	NC_000007.13:g.35288377C>T	VUS	1 lab	52e54d5a9c
X:46332435 KRABD4 GA>G	X	46332435	46332438	GA	G	KRABD4	c.507del	NM_001129898.2	NP_001123370.1:p.(Glu170LysfsTer159)	NC_000023.10:g.46332438del	VUS	1 lab	52e651b112
19:42794835 CIC G>A	19	42794835	42794835	G	A	CIC	c.4642G>A	NM_001386298.1	NP_001373227.1:p.(Glu1548Lys)	NC_000019.9:g.42794835G>A	(Likely) benign	1 lab	52e7f5623f
2:220474124 STK11IP C>T	2	220474124	220474124	C	T	STK11IP	c.1966C>T	NM_052902.4	NP_443134.3:p.(Arg656Trp)	NC_000002.11:g.220474124C>T	(Likely) benign	1 lab	52e9b2fcdd
11:44331595 ALX4 G>C	11	44331595	44331595	G	C	ALX4	c.18C>G	NM_021926.4	NP_068745.2:p.(Cys6Trp)	NC_000011.9:g.44331595G>C	VUS	1 lab	52eaae0908
12:7053030 RNU7-1 C>T	12	7053030	7053030	C	T	RNU7-1	n.52C>T	NR_023317.1		NC_000012.11:g.7053030C>T	(Likely) benign	1 lab	6481da2094
12:121435353 HNF1A C>T	12	121435353	121435353	C	T	HNF1A	c.1386C>T	NM_000545.8	NP_000536.6:p.(Val462=)	NC_000012.11:g.121435353C>T	(Likely) benign	1 lab	52ecb83360
14:74976521 LTBP2 G>A	14	74976521	74976521	G	A	LTBP2	c.3193C>T	NM_000428.3	NP_000419.1:p.(Leu1065Phe)	NC_000014.8:g.74976521G>A	VUS	1 lab	52ee60ecd1
7:27140863 HOXA2 T>A	7	27140863	27140863	T	A	HOXA2	c.613A>T	NM_006735.4	NP_006726.1:p.(Lys205Ter)	NC_000007.13:g.27140863T>A	(Likely) pathogenic	1 lab	35a770097f
16:66581977 TK2 T>A	16	66581977	66581977	T	A	TK2	c.156+904A>T	NM_004614.5	NP_004605.4:p.?	NC_000016.9:g.66581977T>A	(Likely) benign	1 lab	52ef18c932
17:16852049 TNFRSF13B T>C	17	16852049	16852049	T	C	TNFRSF13B	c.445+3A>G	NM_012452.3	NP_036584.1:p.?	NC_000017.10:g.16852049T>C	(Likely) benign	1 lab	52f0f9c648
13:36909602 SPART CAT>C	13	36909602	36909604	CAT	C	SPART	c.364_365del	NM_015087.5	NP_055902.1:p.(Met122ValfsTer2)	NC_000013.10:g.36909603_36909604del	(Likely) pathogenic	1 lab	52f13a337a
15:49064811 CEP152 C>T	15	49064811	49064811	C	T	CEP152	c.1655G>A	NM_001194998.2	NP_001181927.1:p.(Arg552His)	NC_000015.9:g.49064811C>T	VUS	1 lab	52f1c6bcc0
16:775464 CCDC78 C>A	16	775464	775464	C	A	CCDC78	c.384G>T	NM_001378030.1	NP_001364959.1:p.(Glu128Asp)	NC_000016.9:g.775464C>A	(Likely) benign	1 lab	52f25c2eb9
2:98430484 TMEM131 T>C	2	98430484	98430484	T	C	TMEM131	c.1567A>G	NM_015348.2	NP_056163.1:p.(Asn523Asp)	NC_000002.11:g.98430484T>C	VUS	1 lab	52f358ef57
5:131953752 RAD50 T>C	5	131953752	131953752	T	C	RAD50	c.3165-10T>C	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131953752T>C	(Likely) benign	1 lab	52f64c88db
5:13886244 DNAH5 C>A	5	13886244	13886244	C	A	DNAH5	c.2578-6G>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886244C>A	(Likely) benign	1 lab	52f7f75592
7:2279195 MRM2 G>T	7	2279195	2279195	G	T	MRM2	c.156C>A	NM_013393.3	NP_037525.1:p.(Tyr52Ter)	NC_000007.13:g.2279195G>T	(Likely) pathogenic	1 lab	52f879f92b
16:2156786 PKD1 A>C	16	2156786	2156786	A	C	PKD1	c.7209+20T>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2156786A>C	(Likely) benign	1 lab	52f8b96430
11:120744783 GRIK4 G>A	11	120744783	120744783	G	A	GRIK4	c.915G>A	NM_014619.5	NP_055434.2:p.(Ser305=)	NC_000011.9:g.120744783G>A	VUS	1 lab	52f98b6335
8:22064913 BMP1 G>A	8	22064913	22064913	G	A	BMP1	c.2459G>A	NM_006129.5	NP_006120.1:p.(Arg820His)	NC_000008.10:g.22064913G>A	VUS	1 lab	52f99e7f7f
2:74691795 MOGS G>A	2	74691795	74691795	G	A	MOGS	c.407C>T	NM_006302.3	NP_006293.2:p.(Thr136Met)	NC_000002.11:g.74691795G>A	VUS	1 lab	52fa5815fa
9:79259691 PRUNE2 C>A	9	79259691	79259691	C	A	PRUNE2	c.8692G>T	NM_015225.3	NP_056040.2:p.(Val2898Phe)	NC_000009.11:g.79259691C>A	(Likely) benign	1 lab	52fb64d3dd
1:242023898 EXO1 A>G	1	242023898	242023898	A	G	EXO1	c.836A>G	NM_130398.4	NP_569082.2:p.(Asn279Ser)	NC_000001.10:g.242023898A>G	VUS	1 lab	52fba8ec36
15:75014027 CYP1A1 A>G	15	75014027	75014027	A	G	CYP1A1	c.857T>C	NM_001319217.2	NP_001306146.1:p.(Ile286Thr)	NC_000015.9:g.75014027A>G	VUS	1 lab	52fe7b2127
3:64133380 PRICKLE2 TA>T	3	64133380	64133387	TA	T	PRICKLE2	c.788-3del	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64133387del	(Likely) benign	1 lab	52ffd935ae
6:73904955 KCNQ5 G>A	6	73904955	73904955	G	A	KCNQ5	c.2617G>A	NM_019842.4	NP_062816.2:p.(Asp873Asn)	NC_000006.11:g.73904955G>A	VUS	1 lab	5300772d3b
17:79898714 MYADML2 G>A	17	79898714	79898714	G	A	MYADML2	c.904C>T	NM_001145113.3	NP_001138585.2:p.(Arg302Cys)	NC_000017.10:g.79898714G>A	(Likely) benign	1 lab	5300b36216
1:228465328 OBSCN A>G	1	228465328	228465328	A	G	OBSCN	c.8002A>G	NM_001386125.1	NP_001373054.1:p.(Lys2668Glu)	NC_000001.10:g.228465328A>G	VUS	1 lab	5300eedd3b
17:2573633 PAFAH1B1 G>C	17	2573633	2573633	G	C	PAFAH1B1	c.568+8G>C	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2573633G>C	(Likely) benign	1 lab	5304a82730
13:103527931 ERCC5 G>A	13	103527931	103527931	G	A	ERCC5	c.3239G>A	NM_000123.4	NP_000114.3:p.(Gly1080Glu)	NC_000013.10:g.103527931G>A	VUS	1 lab	5304b291fa
2:201397793 SGO2 A>T	2	201397793	201397793	A	T	SGO2	c.95A>T	NM_152524.6	NP_689737.4:p.(Asn32Ile)	NC_000002.11:g.201397793A>T	VUS	1 lab	5305207caa
14:20859212 TEP1 G>A	14	20859212	20859212	G	A	TEP1	c.2141C>T	NM_007110.5	NP_009041.2:p.(Thr714Met)	NC_000014.8:g.20859212G>A	(Likely) benign	1 lab	53053cca15
3:139108480 COPB2 C>T	3	139108480	139108480	C	T	COPB2	c.-88G>A	NM_004766.3	NP_004757.1:p.?	NC_000003.11:g.139108480C>T	(Likely) benign	1 lab	5306f28957
2:197183372 HECW2 C>G	2	197183372	197183372	C	G	HECW2	c.2242G>C	NM_001348768.2	NP_001335697.1:p.(Ala748Pro)	NC_000002.11:g.197183372C>G	VUS	1 lab	53081df4a4
2:158634674 ACVR1 A>G	2	158634674	158634674	A	G	ACVR1	c.512T>C	NM_001111067.4	NP_001104537.1:p.(Ile171Thr)	NC_000002.11:g.158634674A>G	VUS	1 lab	53085bbc5e
X:19372653 PDHA1 A>G	X	19372653	19372653	A	G	PDHA1	c.555A>G	NM_000284.4	NP_000275.1:p.(Gly185=)	NC_000023.10:g.19372653A>G	(Likely) pathogenic	1 lab	53096f1370
2:148701002 ORC4 A>C	2	148701002	148701002	A	C	ORC4	c.849+3T>G	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701002A>C	(Likely) benign	1 lab	530b80ce79
12:25378545 KRAS T>C	12	25378545	25378545	T	C	KRAS	c.450+3A>G	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25378545T>C	(Likely) benign	1 lab	530c5117eb
3:195965687 PCYT1A G>A	3	195965687	195965687	G	A	PCYT1A	c.976C>T	NM_001312673.2	NP_001299602.1:p.(Arg326Cys)	NC_000003.11:g.195965687G>A	VUS	1 lab	530d92d0c0
8:145739506 RECQL4 G>T	8	145739506	145739506	G	T	RECQL4	c.1879-15C>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145739506G>T	(Likely) benign	1 lab	20ea4f8869
2:109522829 EDAR GAA>G	2	109522829	109522834	GAA	G	EDAR	c.964-7_964-6del	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109522833_109522834del	(Likely) benign	1 lab	530fb112e1
1:225332283 DNAH14 G>A	1	225332283	225332283	G	A	DNAH14	c.4693G>A	NM_001367479.1	NP_001354408.1:p.(Gly1565Ser)	NC_000001.10:g.225332283G>A	VUS	1 lab	53102f37f0
2:179437539 TTN T>TA	2	179437539	179437540	T	TA	TTN	c.73319dup	NM_001267550.2	NP_001254479.2:p.(Arg24441LysfsTer19)	NC_000002.11:g.179437540dup	(Likely) pathogenic	1 lab	20342bf849
22:42322774 TNFRSF13C T>G	22	42322774	42322774	T	G	TNFRSF13C	c.4A>C	NM_052945.3	NP_443177.1:p.(Arg2=)	NC_000022.10:g.42322774T>G	(Likely) benign	1 lab	20f0aab79a
3:87313540 POU1F1 G>A	3	87313540	87313540	G	A	POU1F1	c.337C>T	NM_000306.4	NP_000297.1:p.(Arg113Trp)	NC_000003.11:g.87313540G>A	(Likely) benign	1 lab	53116eb622
16:31501449 SLC5A2 C>T	16	31501449	31501449	C	T	SLC5A2	c.1690C>T	NM_003041.4	NP_003032.1:p.(Arg564Trp)	NC_000016.9:g.31501449C>T	VUS	1 lab	531267a915
X:133527672 PHF6 T>C	X	133527672	133527672	T	C	PHF6	c.374+8T>C	NM_001015877.2	NP_001015877.1:p.?	NC_000023.10:g.133527672T>C	(Likely) benign	1 lab	5312b5a8da
16:335097 PDIA2 G>C	16	335097	335097	G	C	PDIA2	c.692G>C	NM_006849.4	NP_006840.2:p.(Arg231Pro)	NC_000016.9:g.335097G>C	(Likely) benign	1 lab	5312c0e3d9
14:23859641 MYH6 C>G	14	23859641	23859641	C	G	MYH6	c.3357G>C	NM_002471.4	NP_002462.2:p.(Glu1119Asp)	NC_000014.8:g.23859641C>G	VUS	1 lab	5313792f20
5:13817665 DNAH5 G>T	5	13817665	13817665	G	T	DNAH5	c.6980C>A	NM_001369.3	NP_001360.1:p.(Ala2327Glu)	NC_000005.9:g.13817665G>T	VUS	1 lab	5313a287a0
9:35657840 RMRP C>T	9	35657840	35657840	C	T	RMRP	n.176G>A	NR_003051.3		NC_000009.11:g.35657840C>T	VUS	1 lab	6cc440cd33
12:122967172 ZCCHC8 A>G	12	122967172	122967172	A	G	ZCCHC8	c.732+10T>C	NM_017612.5	NP_060082.2:p.?	NC_000012.11:g.122967172A>G	(Likely) benign	1 lab	5313b5ddb0
6:29641007 ZFP57 G>A	6	29641007	29641007	G	A	ZFP57	c.881C>T	NM_001109809.5	NP_001103279.2:p.(Thr294Ile)	NC_000006.11:g.29641007G>A	VUS	1 lab	53142a66bf
6:117248719 RFX6 G>T	6	117248719	117248719	G	T	RFX6	c.2398+17G>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117248719G>T	(Likely) benign	1 lab	5317d26466
1:152283347 FLG G>T	1	152283347	152283347	G	T	FLG	c.4015C>A	NM_002016.2	NP_002007.1:p.(His1339Asn)	NC_000001.10:g.152283347G>T	VUS	1 lab	5318593ce5
12:2690828 CACNA1C TC>T	12	2690828	2690829	TC	T	CACNA1C	c.1969del	NM_000719.7	NP_000710.5:p.(Leu657SerfsTer47)	NC_000012.11:g.2690829del	VUS	1 lab	5318b08fbd
16:67641741 CTCF T>C	16	67641741	67641741	T	C	CTCF	c.-9-2986T>C	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67641741T>C	(Likely) benign	1 lab	53191a5366
1:237951266 RYR2 TTTTG>T	1	237951266	237951281	TTTTG	T	RYR2	c.13329-10_13329-7del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237951278_237951281del	(Likely) benign	1 lab	531b265106
14:21870494 CHD8 C>T	14	21870494	21870494	C	T	CHD8	c.3882+1G>A	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21870494C>T	(Likely) pathogenic	1 lab	531d0d6111
10:90524233 LIPN A>T	10	90524233	90524233	A	T	LIPN	c.293A>T	NM_001102469.1	NP_001095939.1:p.(Tyr98Phe)	NC_000010.10:g.90524233A>T	(Likely) benign	1 lab	20f22df03a
1:235972822 LYST C>A	1	235972822	235972822	C	A	LYST	c.1296G>T	NM_000081.4	NP_000072.2:p.(Leu432Phe)	NC_000001.10:g.235972822C>A	VUS	1 lab	531e923229
7:42187942 GLI3 A>G	7	42187942	42187942	A	G	GLI3	c.250T>C	NM_000168.6	NP_000159.3:p.(Ser84Pro)	NC_000007.13:g.42187942A>G	VUS	1 lab	531ffb6138
9:12708148 TYRP1 G>C	9	12708148	12708148	G	C	TYRP1	c.1408+5G>C	NM_000550.3	NP_000541.1:p.?	NC_000009.11:g.12708148G>C	(Likely) benign	1 lab	53213b6fb1
1:15421337 KAZN C>A	1	15421337	15421337	C	A	KAZN	c.1455C>A	NM_201628.3	NP_963922.2:p.(Asp485Glu)	NC_000001.10:g.15421337C>A	VUS	1 lab	53221bebbe
15:40494614 BUB1B G>A	15	40494614	40494614	G	A	BUB1B	c.1576G>A	NM_001211.6	NP_001202.5:p.(Val526Ile)	NC_000015.9:g.40494614G>A	(Likely) benign	1 lab	532232260d
8:17228561 MTMR7 G>A	8	17228561	17228561	G	A	MTMR7	c.295C>T	NM_004686.5	NP_004677.3:p.(Arg99Cys)	NC_000008.10:g.17228561G>A	VUS	1 lab	532247f6d3
17:70119968 SOX9 A>C	17	70119968	70119968	A	C	SOX9	c.970A>C	NM_000346.4	NP_000337.1:p.(Thr324Pro)	NC_000017.10:g.70119968A>C	VUS	1 lab	5322662962
6:87971482 ZNF292 T>C	6	87971482	87971482	T	C	ZNF292	c.8135T>C	NM_015021.3	NP_055836.1:p.(Ile2712Thr)	NC_000006.11:g.87971482T>C	(Likely) benign	1 lab	532384a6ad
10:29821683 SVIL G>A	10	29821683	29821683	G	A	SVIL	c.1613C>T	NM_021738.3	NP_068506.2:p.(Ser538Leu)	NC_000010.10:g.29821683G>A	VUS	1 lab	53241e68b7
11:92534467 FAT3 G>A	11	92534467	92534467	G	A	FAT3	c.8288G>A	NM_001367949.2	NP_001354878.1:p.(Gly2763Asp)	NC_000011.9:g.92534467G>A	VUS	1 lab	53246d3026
1:16258099 SPEN C>A	1	16258099	16258099	C	A	SPEN	c.5364C>A	NM_015001.3	NP_055816.2:p.(Asn1788Lys)	NC_000001.10:g.16258099C>A	(Likely) benign	1 lab	53248aed81
2:162728804 SLC4A10 A>G	2	162728804	162728804	A	G	SLC4A10	c.768A>G	NM_001178015.2	NP_001171486.1:p.(Ala256=)	NC_000002.11:g.162728804A>G	VUS	1 lab	5324a5d12f
12:90035935 ATP2B1 G>A	12	90035935	90035935	G	A	ATP2B1	c.406C>T	NM_001366521.1	NP_001353450.1:p.(Leu136Phe)	NC_000012.11:g.90035935G>A	(Likely) benign	1 lab	53252be342
8:145008989 PLEC C>T	8	145008989	145008989	C	T	PLEC	c.934G>A	NM_201384.3	NP_958786.1:p.(Glu312Lys)	NC_000008.10:g.145008989C>T	VUS	1 lab	5327344d5b
Y:21893689 KDM5D T>C	Y	21893689	21893689	T	C	KDM5D	c.1340A>G	NM_004653.5	NP_004644.2:p.(Asn447Ser)	NC_000024.9:g.21893689T>C	VUS	1 lab	5327bb3515
19:7152942 INSR G>C	19	7152942	7152942	G	C	INSR	c.2030-4C>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7152942G>C	(Likely) benign	1 lab	5329a934dc
16:2142481 PKD1 C>G	16	2142481	2142481	C	G	PKD1	c.11269G>C	NM_001009944.3	NP_001009944.3:p.(Ala3757Pro)	NC_000016.9:g.2142481C>G	VUS	1 lab	5329e85246
6:117203527 RFX6 T>C	6	117203527	117203527	T	C	RFX6	c.505-3T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117203527T>C	(Likely) benign	1 lab	532b18f5be
12:88449443 CEP290 A>AT	12	88449443	88449451	A	AT	CEP290	c.6869dup	NM_025114.4	NP_079390.3:p.(Asn2290LysfsTer6)	NC_000012.11:g.88449451dup	VUS	1 lab	532ba5b6d1
18:20596893 RBBP8 T>G	18	20596893	20596893	T	G	RBBP8	c.2454+6T>G	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20596893T>G	VUS	1 lab	532ce2273b
14:23882081 MYH7 C>G	14	23882081	23882081	C	G	MYH7	c.5791-1G>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23882081C>G	VUS	1 lab	532d7ceb41
2:44031854 DYNC2LI1 G>A	2	44031854	44031854	G	A	DYNC2LI1	c.876G>A	NM_016008.4	NP_057092.2:p.(Val292=)	NC_000002.11:g.44031854G>A	(Likely) benign	1 lab	20f6af8a26
3:9788941 BRPF1 C>T	3	9788941	9788941	C	T	BRPF1	c.3571C>T	NM_001003694.2	NP_001003694.1:p.(Arg1191Cys)	NC_000003.11:g.9788941C>T	VUS	1 lab	532dc19b1a
7:92733744 SAMD9 A>G	7	92733744	92733744	A	G	SAMD9	c.1667T>C	NM_017654.4	NP_060124.2:p.(Leu556Pro)	NC_000007.13:g.92733744A>G	VUS	1 lab	532e27ac8a
17:39723990 KRT9 T>A	17	39723990	39723990	T	A	KRT9	c.1407A>T	NM_000226.4	NP_000217.2:p.(Gly469=)	NC_000017.10:g.39723990T>A	(Likely) benign	1 lab	2039098a80
2:20145683 WDR35 C>T	2	20145683	20145683	C	T	WDR35	c.1709G>A	NM_020779.4	NP_065830.2:p.(Gly570Glu)	NC_000002.11:g.20145683C>T	VUS	1 lab	5332b6ce55
14:35548216 FAM177A1 C>T	14	35548216	35548216	C	T	FAM177A1	c.490C>T	NM_173607.5	NP_775878.2:p.(Arg164Trp)	NC_000014.8:g.35548216C>T	VUS	1 lab	533333592d
1:39815208 MACF1 T>C	1	39815208	39815208	T	C	MACF1	c.10874T>C	NM_001394062.1	NP_001380991.1:p.(Val3625Ala)	NC_000001.10:g.39815208T>C	(Likely) benign	1 lab	53350e0de3
X:119048786 AKAP14 C>G	X	119048786	119048786	C	G	AKAP14	c.386C>G	NM_178813.6	NP_848928.1:p.(Ala129Gly)	NC_000023.10:g.119048786C>G	(Likely) benign	1 lab	53368410d6
22:51153401 SHANK3 G>A	22	51153401	51153401	G	A	SHANK3	c.2416G>A	NM_001372044.2	NP_001358973.1:p.(Ala806Thr)	NC_000022.10:g.51153401G>A	(Likely) benign	1 lab	5336c38052
1:197070215 ASPM A>G	1	197070215	197070215	A	G	ASPM	c.8166T>C	NM_018136.5	NP_060606.3:p.(Tyr2722=)	NC_000001.10:g.197070215A>G	VUS	1 lab	5337290ff1
19:47865935 DHX34 C>G	19	47865935	47865935	C	G	DHX34	c.1578C>G	NM_014681.6	NP_055496.2:p.(Asp526Glu)	NC_000019.9:g.47865935C>G	(Likely) benign	1 lab	53373ea149
3:9512341 SETD5 C>T	3	9512341	9512341	C	T	SETD5	c.2923C>T	NM_001080517.3	NP_001073986.1:p.(Gln975Ter)	NC_000003.11:g.9512341C>T	(Likely) pathogenic	1 lab	53388d48bf
9:131346664 SPTAN1 A>G	9	131346664	131346664	A	G	SPTAN1	c.2297A>G	NM_001130438.3	NP_001123910.1:p.(Tyr766Cys)	NC_000009.11:g.131346664A>G	VUS	1 lab	53389b1541
10:71716753 COL13A1 C>T	10	71716753	71716753	C	T	COL13A1	c.2146-7C>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71716753C>T	(Likely) benign	1 lab	5339676e97
22:50216627 BRD1 C>A	22	50216627	50216627	C	A	BRD1	c.1339G>T	NM_001304808.3	NP_001291737.1:p.(Val447Leu)	NC_000022.10:g.50216627C>A	VUS	1 lab	5339d7e9ca
1:225541533 DNAH14 G>A	1	225541533	225541533	G	A	DNAH14	c.11562G>A	NM_001367479.1	NP_001354408.1:p.(Thr3854=)	NC_000001.10:g.225541533G>A	(Likely) benign	1 lab	533a24d474
7:107790488 NRCAM C>T	7	107790488	107790488	C	T	NRCAM	c.3782G>A	NM_001037132.4	NP_001032209.1:p.(Gly1261Glu)	NC_000007.13:g.107790488C>T	VUS	1 lab	533a554b0e
4:167012274 TLL1 A>C	4	167012274	167012274	A	C	TLL1	c.2443-6A>C	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.167012274A>C	(Likely) benign	1 lab	533b8ce560
6:117203602 RFX6 A>G	6	117203602	117203602	A	G	RFX6	c.566+11A>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117203602A>G	(Likely) benign	1 lab	533d20d885
X:154185336 F8 G>A	X	154185336	154185336	G	A	F8	c.1648C>T	NM_000132.3	NP_000123.1:p.(Arg550Cys)	NC_000023.10:g.154185336G>A	(Likely) pathogenic	1 lab	20f8234983
6:30622963 DHX16 G>A	6	30622963	30622963	G	A	DHX16	c.2812C>T	NM_003587.5	NP_003578.2:p.(Arg938Cys)	NC_000006.11:g.30622963G>A	VUS	1 lab	5342fb8fe8
9:95481975 BICD2 C>G	9	95481975	95481975	C	G	BICD2	c.1063-111G>C	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95481975C>G	(Likely) benign	1 lab	20fa34484c
19:5904966 VMAC G>T	19	5904966	5904966	G	T	VMAC	c.65G>T	NM_001017921.4	NP_001017921.1:p.(Arg22Leu)	NC_000019.9:g.5904966G>T	VUS	1 lab	5346b8a8ec
13:28498620 PDX1 G>A	13	28498620	28498620	G	A	PDX1	c.634G>A	NM_000209.4	NP_000200.1:p.(Gly212Arg)	NC_000013.10:g.28498620G>A	(Likely) pathogenic	1 lab	5346effbc0
3:15373858 SH3BP5 C>T	3	15373858	15373858	C	T	SH3BP5	c.58G>A	NM_004844.5	NP_004835.2:p.(Ala20Thr)	NC_000003.11:g.15373858C>T	(Likely) benign	1 lab	20fcb4077a
4:41747992 PHOX2B TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC>T	4	41747992	41748042	TGCCGCCGCTGCCGCTGCCGCCGCCGCCGCTGCCGCGGCC	T	PHOX2B	c.738_776del	NM_003924.4	NP_003915.2:p.(Ala248_Ala260del)	NC_000004.11:g.41748004_41748042del	(Likely) benign	1 lab	534817b826
16:2220637 TRAF7 G>A	16	2220637	2220637	G	A	TRAF7	c.254G>A	NM_032271.3	NP_115647.2:p.(Arg85His)	NC_000016.9:g.2220637G>A	(Likely) benign	1 lab	534c0a70b0
1:186101484 HMCN1 T>C	1	186101484	186101484	T	C	HMCN1	c.13255T>C	NM_031935.3	NP_114141.2:p.(Cys4419Arg)	NC_000001.10:g.186101484T>C	VUS	1 lab	534cbd26d2
13:25480057 CPAP CAG>C	13	25480057	25480061	CAG	C	CPAP	c.2117_2118del	NM_018451.5	NP_060921.3:p.(Ser706Ter)	NC_000013.10:g.25480060_25480061del	(Likely) pathogenic	1 lab	534ceaaf78
9:138683576 KCNT1 G>A	9	138683576	138683576	G	A	KCNT1	c.3503-67G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138683576G>A	(Likely) benign	1 lab	20fcd58e2b
12:56090787 ITGA7 A>T	12	56090787	56090787	A	T	ITGA7	c.1633T>A	NM_002206.3	NP_002197.2:p.(Phe545Ile)	NC_000012.11:g.56090787A>T	VUS	1 lab	534d3e38c8
19:38056117 ZNF571 T>C	19	38056117	38056117	T	C	ZNF571	c.1213A>G	NM_016536.5	NP_057620.3:p.(Asn405Asp)	NC_000019.9:g.38056117T>C	(Likely) benign	1 lab	534dbb2dd4
11:3150356 OSBPL5 C>T	11	3150356	3150356	C	T	OSBPL5	c.23G>A	NM_020896.4	NP_065947.1:p.(Arg8Gln)	NC_000011.9:g.3150356C>T	VUS	1 lab	534de8deb3
9:135942288 CEL A>G	9	135942288	135942288	A	G	CEL	c.733A>G	NM_001807.6	NP_001798.3:p.(Ser245Gly)	NC_000009.11:g.135942288A>G	VUS	1 lab	534ed334cb
2:32768467 BIRC6 T>A	2	32768467	32768467	T	A	BIRC6	c.12451T>A	NM_016252.4	NP_057336.3:p.(Ser4151Thr)	NC_000002.11:g.32768467T>A	(Likely) benign	1 lab	534f6ca7fa
14:69346747 ACTN1 G>A	14	69346747	69346747	G	A	ACTN1	c.2212C>T	NM_001130004.1	NP_001123476.1:p.(Arg738Trp)	NC_000014.8:g.69346747G>A	(Likely) pathogenic	1 lab	20fd3c9fc9
5:71494431 MAP1B T>C	5	71494431	71494431	T	C	MAP1B	c.5249T>C	NM_005909.5	NP_005900.2:p.(Leu1750Pro)	NC_000005.9:g.71494431T>C	VUS	1 lab	53539bdc56
19:1465603 APC2 C>T	19	1465603	1465603	C	T	APC2	c.2303C>T	NM_005883.3	NP_005874.1:p.(Ala768Val)	NC_000019.9:g.1465603C>T	VUS	1 lab	53543270c0
2:216908679 PECR CGACTG>TGACTTCA	2	216908679	216908684	CGACTG	TGACTTCA	PECR	c.769_774delinsTGAAGTCA	NM_018441.6	NP_060911.2:p.(Gln257Ter)	NC_000002.11:g.216908679_216908684delinsTGACTTCA	VUS	1 lab	5355e3ef95
7:12382745 VWDE A>T	7	12382745	12382745	A	T	VWDE	c.4138T>A	NM_001135924.3	NP_001129396.1:p.(Cys1380Ser)	NC_000007.13:g.12382745A>T	VUS	1 lab	535646fa00
1:228506960 OBSCN GC>G	1	228506960	228506967	GC	G	OBSCN	c.17373+12del	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228506967del	(Likely) benign	1 lab	5358b839a6
20:45353827 SLC2A10 T>C	20	45353827	45353827	T	C	SLC2A10	c.152T>C	NM_030777.4	NP_110404.1:p.(Val51Ala)	NC_000020.10:g.45353827T>C	VUS	1 lab	535b372fa8
16:30732549 SRCAP G>C	16	30732549	30732549	G	C	SRCAP	c.3293G>C	NM_006662.3	NP_006653.2:p.(Arg1098Pro)	NC_000016.9:g.30732549G>C	VUS	1 lab	535cf84b3a
12:121437106 HNF1A AC>A	12	121437106	121437109	AC	A	HNF1A	c.1540del	NM_000545.8	NP_000536.6:p.(His514ThrfsTer17)	NC_000012.11:g.121437109del	(Likely) pathogenic	1 lab	536005b718
8:42176927 IKBKB G>A	8	42176927	42176927	G	A	IKBKB	c.1504G>A	NM_001556.3	NP_001547.1:p.(Glu502Lys)	NC_000008.10:g.42176927G>A	(Likely) benign	1 lab	536030fec4
5:138715761 SLC23A1 T>C	5	138715761	138715761	T	C	SLC23A1	c.652A>G	NM_005847.5	NP_005838.3:p.(Ile218Val)	NC_000005.9:g.138715761T>C	VUS	1 lab	5360313792
1:224585667 WDR26 A>C	1	224585667	224585667	A	C	WDR26	c.2074+132T>G	NM_001379403.1	NP_001366332.1:p.?	NC_000001.10:g.224585667A>C	(Likely) benign	1 lab	536169916c
7:103236951 RELN T>C	7	103236951	103236951	T	C	RELN	c.3491A>G	NM_005045.4	NP_005036.2:p.(Gln1164Arg)	NC_000007.13:g.103236951T>C	VUS	1 lab	5361a2af42
12:52163117 SCN8A G>A	12	52163117	52163117	G	A	SCN8A	c.3370G>A	NM_001330260.2	NP_001317189.1:p.(Asp1124Asn)	NC_000012.11:g.52163117G>A	VUS	1 lab	536241d2b1
3:58139335 FLNB C>T	3	58139335	58139335	C	T	FLNB	c.6601C>T	NM_001457.4	NP_001448.2:p.(Pro2201Ser)	NC_000003.11:g.58139335C>T	VUS	1 lab	5362b57049
10:103432754 FBXW4 T>C	10	103432754	103432754	T	C	FBXW4	c.1058A>G	NM_022039.4	NP_071322.2:p.(Tyr353Cys)	NC_000010.10:g.103432754T>C	VUS	1 lab	5362cae9d6
9:86421260 GKAP1 TTC>T	9	86421260	86421267	TTC	T	GKAP1	c.171_172del	NM_025211.4	NP_079487.2:p.(Arg59LysfsTer10)	NC_000009.11:g.86421266_86421267del	VUS	1 lab	5364399ee9
17:26731969 SLC46A1 C>T	17	26731969	26731969	C	T	SLC46A1	c.746G>A	NM_080669.6	NP_542400.2:p.(Arg249Gln)	NC_000017.10:g.26731969C>T	(Likely) benign	1 lab	5365c4e0b2
1:29651703 PTPRU A>C	1	29651703	29651703	A	C	PTPRU	c.4113A>C	NM_133178.4	NP_573439.2:p.(Leu1371=)	NC_000001.10:g.29651703A>C	VUS	1 lab	53695ed997
11:102995996 DYNC2H1 T>G	11	102995996	102995996	T	G	DYNC2H1	c.1829T>G	NM_001377.3	NP_001368.2:p.(Phe610Cys)	NC_000011.9:g.102995996T>G	VUS	1 lab	5369ff590b
6:33756552 LEMD2 C>G	6	33756552	33756552	C	G	LEMD2	c.342G>C	NM_181336.4	NP_851853.1:p.(Trp114Cys)	NC_000006.11:g.33756552C>G	(Likely) benign	1 lab	536ab8b180
6:42976222 PPP2R5D C>T	6	42976222	42976222	C	T	PPP2R5D	c.1026+9C>T	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42976222C>T	(Likely) benign	1 lab	536b6facfb
1:6500694 ESPN C>A	1	6500694	6500694	C	A	ESPN	c.684C>A	NM_031475.3	NP_113663.2:p.(Cys228Ter)	NC_000001.10:g.6500694C>A	(Likely) pathogenic	1 lab	536be07b46
4:46053659 GABRG1 T>C	4	46053659	46053659	T	C	GABRG1	c.917-4A>G	NM_173536.4	NP_775807.2:p.?	NC_000004.11:g.46053659T>C	(Likely) benign	1 lab	536c5014d2
2:152472584 NEB C>T	2	152472584	152472584	C	T	NEB	c.11221G>A	NM_001164508.2	NP_001157980.2:p.(Gly3741Ser)	NC_000002.11:g.152472584C>T	VUS	1 lab	536d77d145
4:126402863 FAT4 C>G	4	126402863	126402863	C	G	FAT4	c.12792C>G	NM_001291303.3	NP_001278232.1:p.(Ile4264Met)	NC_000004.11:g.126402863C>G	VUS	1 lab	536dd2ae78
14:105409035 AHNAK2 A>C	14	105409035	105409035	A	C	AHNAK2	c.12753T>G	NM_138420.4	NP_612429.2:p.(Asp4251Glu)	NC_000014.8:g.105409035A>C	(Likely) benign	1 lab	536ef1c14a
12:5021391 KCNA1 G>A	12	5021391	5021391	G	A	KCNA1	c.847G>A	NM_000217.3	NP_000208.2:p.(Glu283Lys)	NC_000012.11:g.5021391G>A	VUS	1 lab	5370939e10
10:50958990 OGDHL C>T	10	50958990	50958990	C	T	OGDHL	c.791G>A	NM_018245.3	NP_060715.2:p.(Arg264Gln)	NC_000010.10:g.50958990C>T	VUS	1 lab	5370f5ad06
2:136609034 MCM6 G>A	2	136609034	136609034	G	A	MCM6	c.1855C>T	NM_005915.6	NP_005906.2:p.(Arg619Ter)	NC_000002.11:g.136609034G>A	VUS	1 lab	5372963b62
6:26104443 H4C3 G>T	6	26104443	26104443	G	T	H4C3	c.268G>T	NM_003542.4	NP_003533.1:p.(Ala90Ser)	NC_000006.11:g.26104443G>T	(Likely) benign	1 lab	5375f443bd
17:65978657 BPTF T>C	17	65978657	65978657	T	C	BPTF	c.*253T>C	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65978657T>C	VUS	1 lab	537686c3ba
1:180240539 LHX4 G>A	1	180240539	180240539	G	A	LHX4	c.476G>A	NM_033343.4	NP_203129.1:p.(Arg159Gln)	NC_000001.10:g.180240539G>A	VUS	1 lab	5376d216d8
2:33505176 LTBP1 G>T	2	33505176	33505176	G	T	LTBP1	c.3063G>T	NM_206943.4	NP_996826.3:p.(Gln1021His)	NC_000002.11:g.33505176G>T	(Likely) benign	1 lab	53773958f4
2:138722149 HNMT C>T	2	138722149	138722149	C	T	HNMT	c.88C>T	NM_006895.3	NP_008826.1:p.(Gln30Ter)	NC_000002.11:g.138722149C>T	VUS	1 lab	5379bcca6b
1:32797336 HDAC1 C>T	1	32797336	32797336	C	T	HDAC1	c.1148C>T	NM_004964.3	NP_004955.2:p.(Ala383Val)	NC_000001.10:g.32797336C>T	VUS	1 lab	5379e56c2f
11:16362646 SOX6 T>A	11	16362646	16362646	T	A	SOX6	c.149A>T	NM_001367873.1	NP_001354802.1:p.(Lys50Ile)	NC_000011.9:g.16362646T>A	VUS	1 lab	537b9a0322
8:144995573 PLEC G>A	8	144995573	144995573	G	A	PLEC	c.8416C>T	NM_201384.3	NP_958786.1:p.(Leu2806=)	NC_000008.10:g.144995573G>A	VUS	1 lab	537bd5b2f9
5:178413235 GRM6 G>A	5	178413235	178413235	G	A	GRM6	c.2020C>T	NM_000843.4	NP_000834.2:p.(Arg674Cys)	NC_000005.9:g.178413235G>A	VUS	1 lab	537d44599c
19:1469713 APC2 G>T	19	1469713	1469713	G	T	APC2	c.6413G>T	NM_005883.3	NP_005874.1:p.(Arg2138Met)	NC_000019.9:g.1469713G>T	(Likely) benign	1 lab	537d591a40
2:33500857 LTBP1 GC>G	2	33500857	33500858	GC	G	LTBP1	c.2870-10del	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33500858del	(Likely) benign	1 lab	537e2fe35a
12:121437162 HNF1A C>T	12	121437162	121437162	C	T	HNF1A	c.1593C>T	NM_000545.8	NP_000536.6:p.(Ser531=)	NC_000012.11:g.121437162C>T	(Likely) benign	1 lab	537e486ed0
2:238296450 COL6A3 G>A	2	238296450	238296450	G	A	COL6A3	c.1087C>T	NM_004369.4	NP_004360.2:p.(Arg363Cys)	NC_000002.11:g.238296450G>A	VUS	1 lab	53817f9d1c
12:57969420 KIF5A C>T	12	57969420	57969420	C	T	KIF5A	c.1906-3C>T	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57969420C>T	(Likely) benign	1 lab	203c5a0d16
6:99849304 PNISR C>T	6	99849304	99849304	C	T	PNISR	c.1530G>A	NM_032870.4	NP_116259.2:p.(Ser510=)	NC_000006.11:g.99849304C>T	(Likely) benign	1 lab	5382714be4
4:57462793 SPMAP2L G>A	4	57462793	57462793	G	A	SPMAP2L	c.1103G>A	NM_001256475.2	NP_001243404.1:p.(Arg368His)	NC_000004.11:g.57462793G>A	(Likely) benign	1 lab	5382e2bd87
8:100182263 VPS13B T>G	8	100182263	100182263	T	G	VPS13B	c.2209-4T>G	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100182263T>G	(Likely) benign	1 lab	5383719bd5
12:56077691 TMT1B T>C	12	56077691	56077691	T	C	TMT1B	c.593T>C	NM_152637.3	NP_689850.2:p.(Ile198Thr)	NC_000012.11:g.56077691T>C	(Likely) benign	1 lab	53838eb6c0
13:26133909 ATP8A2 T>C	13	26133909	26133909	T	C	ATP8A2	c.1397+6T>C	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26133909T>C	(Likely) benign	1 lab	5384d0951b
22:46643007 CDPF1 C>T	22	46643007	46643007	C	T	CDPF1	c.225G>A	NM_207327.5	NP_997210.3:p.(Pro75=)	NC_000022.10:g.46643007C>T	VUS	1 lab	53871948fb
5:37045572 NIPBL A>C	5	37045572	37045572	A	C	NIPBL	c.6371A>C	NM_133433.4	NP_597677.2:p.(His2124Pro)	NC_000005.9:g.37045572A>C	(Likely) pathogenic	1 lab	203cc79ee4
9:101984924 SEC61B A>C	9	101984924	101984924	A	C	SEC61B	c.100A>C	NM_006808.3	NP_006799.1:p.(Arg34=)	NC_000009.11:g.101984924A>C	VUS	1 lab	538a426488
10:69881300 MYPN G>A	10	69881300	69881300	G	A	MYPN	c.105G>A	NM_032578.3	NP_115967.2:p.(Ala35=)	NC_000010.10:g.69881300G>A	(Likely) benign	1 lab	2104c1c029
13:52524267 ATP7B C>T	13	52524267	52524267	C	T	ATP7B	c.2606G>A	NM_000053.4	NP_000044.2:p.(Gly869Glu)	NC_000013.10:g.52524267C>T	VUS	1 lab	538b4c5996
14:93652720 LYSET T>TA	14	93652720	93652721	T	TA	LYSET	c.197dup	NM_001098621.4	NP_001092091.2:p.(Tyr66Ter)	NC_000014.8:g.93652721dup	VUS	1 lab	538c295e52
7:45957048 IGFBP3 C>T	7	45957048	45957048	C	T	IGFBP3	c.404-10G>A	NM_000598.5	NP_000589.2:p.?	NC_000007.13:g.45957048C>T	(Likely) benign	1 lab	538d186d17
2:38302346 CYP1B1 G>C	2	38302346	38302346	G	C	CYP1B1	c.186C>G	NM_000104.4	NP_000095.2:p.(Asn62Lys)	NC_000002.11:g.38302346G>C	VUS	1 lab	538d4365ae
15:40902499 KNL1 A>G	15	40902499	40902499	A	G	KNL1	c.250+4A>G	NM_144508.5	NP_653091.3:p.?	NC_000015.9:g.40902499A>G	VUS	1 lab	538f86f84b
19:7117217 INSR C>T	19	7117217	7117217	C	T	INSR	c.3999G>A	NM_000208.4	NP_000199.2:p.(Ser1333=)	NC_000019.9:g.7117217C>T	VUS	1 lab	538faebd44
3:195451991 MUC20 TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCCGTCACGGG>T	3	195451991	195452074	TCCTCAGAGAGCAGCGCCTCTTCCGACAGCCCCCATCCAGTCATCACCCCGTCACGGG	T	MUC20	c.544_600del	NM_001282506.2	NP_001269435.1:p.(Ser182_Asp200del)	NC_000003.11:g.195452018_195452074del	VUS	1 lab	538fcfc162
7:47930148 PKD1L1 C>T	7	47930148	47930148	C	T	PKD1L1	c.2667G>A	NM_138295.5	NP_612152.1:p.(Ser889=)	NC_000007.13:g.47930148C>T	(Likely) benign	1 lab	53902c3844
1:186276876 PRG4 CACCCCTAAGGAGCCTGCTCCAACT>C	1	186276876	186276960	CACCCCTAAGGAGCCTGCTCCAACT	C	PRG4	c.2086_2109del	NM_005807.6	NP_005798.3:p.(Pro696_Glu703del)	NC_000001.10:g.186276937_186276960del	VUS	1 lab	5392b55c9a
22:20040100 TANGO2 A>AG	22	20040100	20040103	A	AG	TANGO2	c.261dup	NM_152906.7	NP_690870.3:p.(Arg88AlafsTer3)	NC_000022.10:g.20040103dup	(Likely) pathogenic	1 lab	53948e1cab
2:128347710 MYO7B T>C	2	128347710	128347710	T	C	MYO7B	c.1898T>C	NM_001393586.1	NP_001380515.1:p.(Phe633Ser)	NC_000002.11:g.128347710T>C	VUS	1 lab	53970adae3
13:25484159 CPAP C>A	13	25484159	25484159	C	A	CPAP	c.634G>T	NM_018451.5	NP_060921.3:p.(Glu212Ter)	NC_000013.10:g.25484159C>A	(Likely) pathogenic	1 lab	53975b344a
6:24528277 ALDH5A1 G>A	6	24528277	24528277	G	A	ALDH5A1	c.1226G>A	NM_001080.3	NP_001071.1:p.(Gly409Asp)	NC_000006.11:g.24528277G>A	VUS	1 lab	53975bf614
1:39908205 MACF1 C>T	1	39908205	39908205	C	T	MACF1	c.19070C>T	NM_001394062.1	NP_001380991.1:p.(Pro6357Leu)	NC_000001.10:g.39908205C>T	VUS	1 lab	5398b8d9c6
X:119056048 NKAP G>A	X	119056048	119056048	G	A	NKAP	c.*3135C>T	NM_024528.4	NP_078804.2:p.?	NC_000023.10:g.119056048G>A	VUS	1 lab	539cce5ebe
6:117201744 RFX6 T>C	6	117201744	117201744	T	C	RFX6	c.418T>C	NM_173560.4	NP_775831.2:p.(Leu140=)	NC_000006.11:g.117201744T>C	(Likely) benign	1 lab	539e01c501
4:2933283 SLC75A1 C>T	4	2933283	2933283	C	T	SLC75A1	c.1022G>A	NM_001146069.2	NP_001139541.1:p.(Arg341Gln)	NC_000004.11:g.2933283C>T	VUS	1 lab	539f053142
17:40690691 NAGLU C>T	17	40690691	40690691	C	T	NAGLU	c.682C>T	NM_000263.4	NP_000254.2:p.(Arg228Trp)	NC_000017.10:g.40690691C>T	VUS	1 lab	539f77cd97
12:6562382 TAPBPL G>A	12	6562382	6562382	G	A	TAPBPL	c.214G>A	NM_018009.5	NP_060479.3:p.(Asp72Asn)	NC_000012.11:g.6562382G>A	(Likely) benign	1 lab	53a5cf3be4
3:15563062 COLQ G>A	3	15563062	15563062	G	A	COLQ	c.71C>T	NM_005677.4	NP_005668.2:p.(Pro24Leu)	NC_000003.11:g.15563062G>A	VUS	1 lab	53a60fdfa8
3:113524338 ATP6V1A A>G	3	113524338	113524338	A	G	ATP6V1A	c.1727A>G	NM_001690.4	NP_001681.2:p.(Asp576Gly)	NC_000003.11:g.113524338A>G	VUS	1 lab	53a834a0ee
17:79869158 PCYT2 A>C	17	79869158	79869158	A	C	PCYT2	c.74T>G	NM_002861.5	NP_002852.1:p.(Val25Gly)	NC_000017.10:g.79869158A>C	VUS	1 lab	53a84f4df7
19:18899140 COMP C>A	19	18899140	18899140	C	A	COMP	c.868-12G>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899140C>A	(Likely) benign	1 lab	53a89fa1df
X:69502198 RAB41 G>A	X	69502198	69502198	G	A	RAB41	c.124+7G>A	NM_001363807.1	NP_001350736.1:p.?	NC_000023.10:g.69502198G>A	VUS	1 lab	53aa10194d
16:3304222 MEFV AG>A	16	3304222	3304223	AG	A	MEFV	c.845del	NM_000243.3	NP_000234.1:p.(Thr282IlefsTer10)	NC_000016.9:g.3304223del	VUS	1 lab	53ab0c3ec7
6:3456430 SLC22A23 C>T	6	3456430	3456430	C	T	SLC22A23	c.364G>A	NM_015482.2	NP_056297.1:p.(Asp122Asn)	NC_000006.11:g.3456430C>T	VUS	1 lab	53ab444e3e
17:15929999 TTC19 C>T	17	15929999	15929999	C	T	TTC19	c.977C>T	NM_017775.4	NP_060245.3:p.(Ala326Val)	NC_000017.10:g.15929999C>T	(Likely) benign	1 lab	53ab60c312
17:40847713 CNTNAP1 G>A	17	40847713	40847713	G	A	CNTNAP1	c.3167G>A	NM_003632.3	NP_003623.1:p.(Gly1056Glu)	NC_000017.10:g.40847713G>A	VUS	1 lab	53ac33739a
13:107147297 EFNB2 C>T	13	107147297	107147297	C	T	EFNB2	c.545G>A	NM_004093.4	NP_004084.1:p.(Arg182His)	NC_000013.10:g.107147297C>T	(Likely) benign	1 lab	53aca912c2
15:42980665 STARD9 C>G	15	42980665	42980665	C	G	STARD9	c.6889C>G	NM_020759.3	NP_065810.2:p.(Pro2297Ala)	NC_000015.9:g.42980665C>G	(Likely) benign	1 lab	53ad416069
20:741707 SLC52A3 G>A	20	741707	741707	G	A	SLC52A3	c.1373C>T	NM_033409.4	NP_212134.3:p.(Ser458Leu)	NC_000020.10:g.741707G>A	VUS	1 lab	53ad52e68e
18:19029731 GREB1L C>T	18	19029731	19029731	C	T	GREB1L	c.1654C>T	NM_001142966.3	NP_001136438.1:p.(Pro552Ser)	NC_000018.9:g.19029731C>T	(Likely) benign	1 lab	53ae509853
4:186567935 SORBS2 G>T	4	186567935	186567935	G	T	SORBS2	c.871C>A	NM_001395207.1	NP_001382136.1:p.(His291Asn)	NC_000004.11:g.186567935G>T	(Likely) benign	1 lab	53af0e419e
22:19753901 TBX1 CCT>C	22	19753901	19753906	CCT	C	TBX1	c.1037-7_1037-6del	NM_001379200.1	NP_001366129.1:p.?	NC_000022.10:g.19753905_19753906del	(Likely) benign	1 lab	21055a249c
17:41243948 BRCA1 C>A	17	41243948	41243948	C	A	BRCA1	c.3600G>T	NM_007294.4	NP_009225.1:p.(Gln1200His)	NC_000017.10:g.41243948C>A	(Likely) benign	1 lab	53af97a065
5:154300977 GEMIN5 T>G	5	154300977	154300977	T	G	GEMIN5	c.1388A>C	NM_015465.5	NP_056280.2:p.(Gln463Pro)	NC_000005.9:g.154300977T>G	VUS	1 lab	53b03a48c2
11:17449934 ABCC8 G>A	11	17449934	17449934	G	A	ABCC8	c.1942C>T	NM_000352.6	NP_000343.2:p.(Arg648Cys)	NC_000011.9:g.17449934G>A	VUS	1 lab	53b04d4069
X:16965184 REPS2 C>G	X	16965184	16965184	C	G	REPS2	c.200C>G	NM_004726.3	NP_004717.2:p.(Thr67Arg)	NC_000023.10:g.16965184C>G	VUS	1 lab	53b285a84a
6:51497523 PKHD1 T>C	6	51497523	51497523	T	C	PKHD1	c.11507-2A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51497523T>C	(Likely) pathogenic	1 lab	53b396d29a
7:128138163 METTL2B C>T	7	128138163	128138163	C	T	METTL2B	c.883C>T	NM_018396.3	NP_060866.2:p.(Arg295Cys)	NC_000007.13:g.128138163C>T	VUS	1 lab	53b4b1f2f3
1:237791310 RYR2 G>A	1	237791310	237791310	G	A	RYR2	c.6370G>A	NM_001035.3	NP_001026.2:p.(Gly2124Ser)	NC_000001.10:g.237791310G>A	VUS	1 lab	203f81cf37
11:103019335 DYNC2H1 C>T	11	103019335	103019335	C	T	DYNC2H1	c.2935C>T	NM_001377.3	NP_001368.2:p.(Arg979Trp)	NC_000011.9:g.103019335C>T	VUS	1 lab	53b582cfe6
16:46726411 ORC6 T>C	16	46726411	46726411	T	C	ORC6	c.313T>C	NM_014321.4	NP_055136.1:p.(Phe105Leu)	NC_000016.9:g.46726411T>C	VUS	1 lab	53b5f9224b
9:139396925 NOTCH1 G>A	9	139396925	139396925	G	A	NOTCH1	c.5183C>T	NM_017617.5	NP_060087.3:p.(Pro1728Leu)	NC_000009.11:g.139396925G>A	(Likely) benign	1 lab	53b8cce1d8
3:10382223 ATP2B2 C>T	3	10382223	10382223	C	T	ATP2B2	c.3083G>A	NM_001001331.4	NP_001001331.1:p.(Arg1028Gln)	NC_000003.11:g.10382223C>T	VUS	1 lab	53b94c58dc
3:38050599 PLCD1 C>T	3	38050599	38050599	C	T	PLCD1	c.1657G>A	NM_006225.4	NP_006216.2:p.(Ala553Thr)	NC_000003.11:g.38050599C>T	(Likely) pathogenic	1 lab	53b968013b
14:21837415 SUPT16H G>A	14	21837415	21837415	G	A	SUPT16H	c.730C>T	NM_007192.4	NP_009123.1:p.(Pro244Ser)	NC_000014.8:g.21837415G>A	VUS	1 lab	53bae86f7c
5:54968447 SLC38A9 T>C	5	54968447	54968447	T	C	SLC38A9	c.190A>G	NM_173514.4	NP_775785.2:p.(Met64Val)	NC_000005.9:g.54968447T>C	VUS	1 lab	53bbc978a6
9:133753937 ABL1 A>G	9	133753937	133753937	A	G	ABL1	c.1406A>G	NM_005157.6	NP_005148.2:p.(Tyr469Cys)	NC_000009.11:g.133753937A>G	VUS	1 lab	53be34acdb
X:13786252 OFD1 A>C	X	13786252	13786252	A	C	OFD1	c.2837A>C	NM_003611.3	NP_003602.1:p.(Glu946Ala)	NC_000023.10:g.13786252A>C	VUS	1 lab	53be8ec51f
14:57114193 TMEM260 T>C	14	57114193	57114193	T	C	TMEM260	c.2102T>C	NM_017799.4	NP_060269.3:p.(Leu701Pro)	NC_000014.8:g.57114193T>C	(Likely) benign	1 lab	53bf26af8f
X:49083474 CACNA1F C>T	X	49083474	49083474	C	T	CACNA1F	c.1234G>A	NM_001256789.3	NP_001243718.1:p.(Glu412Lys)	NC_000023.10:g.49083474C>T	VUS	1 lab	53bfbefccd
10:94369060 KIF11 AGT>A	10	94369060	94369100	AGT	A	KIF11	c.574-43_574-42del	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94369099_94369100del	(Likely) benign	1 lab	53c12b6729
5:127863664 FBN2 C>T	5	127863664	127863664	C	T	FBN2	c.437-4G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127863664C>T	(Likely) benign	1 lab	53c1e69021
9:134090678 NUP214 G>A	9	134090678	134090678	G	A	NUP214	c.5672G>A	NM_005085.4	NP_005076.3:p.(Gly1891Glu)	NC_000009.11:g.134090678G>A	VUS	1 lab	53c2365375
2:105472620 POU3F3 CAG>C	2	105472620	105472624	CAG	C	POU3F3	c.655_656del	NM_006236.3	NP_006227.1:p.(Leu220AlafsTer419)	NC_000002.11:g.105472623_105472624del	(Likely) pathogenic	1 lab	53c244ed8a
10:28142252 ODAD2 T>TTGCA	10	28142252	28142255	T	TTGCA	ODAD2	c.3021+7301_3021+7302insTGCA	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28142254_28142255insCATG	VUS	1 lab	53c29f39b6
4:170618326 CLCN3 TTTC>T	4	170618326	170618331	TTTC	T	CLCN3	c.1018-11_1018-9del	NM_001829.4	NP_001820.2:p.?	NC_000004.11:g.170618329_170618331del	(Likely) benign	1 lab	53c4e34a06
18:44554703 KATNAL2 A>C	18	44554703	44554703	A	C	KATNAL2	c.52-18125A>C	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44554703A>C	(Likely) benign	1 lab	53c7d7ecbf
10:123670629 ATE1 C>T	10	123670629	123670629	C	T	ATE1	c.375G>A	NM_001001976.3	NP_001001976.1:p.(Ala125=)	NC_000010.10:g.123670629C>T	VUS	1 lab	53c7ef0cce
2:27708351 IFT172 G>A	2	27708351	27708351	G	A	IFT172	c.59C>T	NM_015662.3	NP_056477.1:p.(Thr20Ile)	NC_000002.11:g.27708351G>A	VUS	1 lab	53c97c030f
3:112727049 RMP64 G>A	3	112727049	112727049	G	A	RMP64	c.1204C>T	NM_015412.4	NP_056227.2:p.(Arg402Trp)	NC_000003.11:g.112727049G>A	VUS	1 lab	53cabc8116
12:22025555 ABCC9 A>G	12	22025555	22025555	A	G	ABCC9	c.2198+4T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22025555A>G	(Likely) benign	1 lab	53cb3dce55
19:7172378 INSR G>A	19	7172378	7172378	G	A	INSR	c.1191C>T	NM_000208.4	NP_000199.2:p.(Ile397=)	NC_000019.9:g.7172378G>A	(Likely) benign	1 lab	53cc5898bb
22:50315920 CRELD2 CTCCGATTCTTACGCCCCTCAGCAGTCAGGACCG>C	22	50315920	50315953	CTCCGATTCTTACGCCCCTCAGCAGTCAGGACCG	C	CRELD2	c.593-339_593-307del	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50315921_50315953del	VUS	1 lab	53ccb17160
7:124503387 POT1 T>G	7	124503387	124503387	T	G	POT1	c.546+17A>C	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124503387T>G	(Likely) benign	1 lab	53ccd31706
22:45931155 FBLN1 G>A	22	45931155	45931155	G	A	FBLN1	c.860G>A	NM_006486.3	NP_006477.3:p.(Arg287His)	NC_000022.10:g.45931155G>A	VUS	1 lab	53ce29812b
6:149700166 TAB2 G>GC	6	149700166	149700172	G	GC	TAB2	c.1121dup	NM_001292034.3	NP_001278963.1:p.(Asn375LysfsTer4)	NC_000006.11:g.149700172dup	VUS	1 lab	53d30355c2
4:114280101 ANK2 C>A	4	114280101	114280101	C	A	ANK2	c.10327C>A	NM_001148.6	NP_001139.3:p.(Pro3443Thr)	NC_000004.11:g.114280101C>A	(Likely) benign	1 lab	53d42f421f
19:43412006 PSG6 G>T	19	43412006	43412006	G	T	PSG6	c.707C>A	NM_001031850.4	NP_001027020.1:p.(Pro236Gln)	NC_000019.9:g.43412006G>T	(Likely) benign	1 lab	53d4313fd9
21:30380903 RWDD2B G>A	21	30380903	30380903	G	A	RWDD2B	c.107C>T	NM_016940.3	NP_058636.1:p.(Ala36Val)	NC_000021.8:g.30380903G>A	VUS	1 lab	53d53683c8
11:17418527 ABCC8 C>T	11	17418527	17418527	C	T	ABCC8	c.4055G>A	NM_000352.6	NP_000343.2:p.(Arg1352His)	NC_000011.9:g.17418527C>T	(Likely) pathogenic	1 lab	53d63c8aea
8:120431560 CCN3 A>G	8	120431560	120431560	A	G	CCN3	c.752A>G	NM_002514.4	NP_002505.1:p.(Gln251Arg)	NC_000008.10:g.120431560A>G	VUS	1 lab	53d64508c6
9:449794 DOCK8 C>T	9	449794	449794	C	T	DOCK8	c.5828C>T	NM_203447.4	NP_982272.2:p.(Thr1943Ile)	NC_000009.11:g.449794C>T	VUS	1 lab	53edea4c14
16:3777969 CREBBP TGTGGAGGCTGGGACTGGGGCC>T	16	3777969	3777996	TGTGGAGGCTGGGACTGGGGCC	T	CREBBP	c.7058_7078del	NM_004380.3	NP_004371.2:p.(Arg2353_Pro2359del)	NC_000016.9:g.3777976_3777996del	VUS	1 lab	53d6df92e6
2:179645896 TTN G>T	2	179645896	179645896	G	T	TTN	c.3475C>A	NM_001267550.2	NP_001254479.2:p.(Arg1159Ser)	NC_000002.11:g.179645896G>T	VUS	1 lab	53d888f65b
X:71521590 CITED1 A>G	X	71521590	71521590	A	G	CITED1	c.565T>C	NM_001144887.2	NP_001138359.1:p.(Phe189Leu)	NC_000023.10:g.71521590A>G	(Likely) benign	1 lab	53dad42559
12:49434492 KMT2D G>A	12	49434492	49434492	G	A	KMT2D	c.7061C>T	NM_003482.4	NP_003473.3:p.(Pro2354Leu)	NC_000012.11:g.49434492G>A	(Likely) benign	1 lab	2042698a50
17:61995103 GH1 C>A	17	61995103	61995103	C	A	GH1	c.456+17G>T	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995103C>A	(Likely) benign	1 lab	53dd86577f
15:28419775 HERC2 G>A	15	28419775	28419775	G	A	HERC2	c.9832-9C>T	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28419775G>A	VUS	1 lab	53ddb7c51e
11:105845076 GRIA4 G>A	11	105845076	105845076	G	A	GRIA4	c.2449G>A	NM_000829.4	NP_000820.4:p.(Val817Ile)	NC_000011.9:g.105845076G>A	(Likely) benign	1 lab	53df132132
6:117241468 RFX6 T>C	6	117241468	117241468	T	C	RFX6	c.1183-5T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117241468T>C	(Likely) benign	1 lab	53df19ec51
16:1268337 CACNA1H T>C	16	1268337	1268337	T	C	CACNA1H	c.5573T>C	NM_021098.3	NP_066921.2:p.(Val1858Ala)	NC_000016.9:g.1268337T>C	VUS	1 lab	53df6748d7
12:11546519 PRB2 G>A	12	11546519	11546519	G	A	PRB2	c.493C>T	NM_006248.4	NP_006239.3:p.(Gln165Ter)	NC_000012.11:g.11546519G>A	VUS	1 lab	53df78b396
11:11354339 GALNT18 C>G	11	11354339	11354339	C	G	GALNT18	c.1318G>C	NM_198516.3	NP_940918.2:p.(Ala440Pro)	NC_000011.9:g.11354339C>G	VUS	1 lab	53dfbb892a
5:43446641 TMEM267 G>A	5	43446641	43446641	G	A	TMEM267	c.331C>T	NM_022483.5	NP_071928.2:p.(Arg111Ter)	NC_000005.9:g.43446641G>A	VUS	1 lab	53e0c83996
16:89761424 CDK10 C>CG	16	89761424	89761426	C	CG	CDK10	c.880dup	NM_052988.5	NP_443714.3:p.(Glu294GlyfsTer16)	NC_000016.9:g.89761426dup	(Likely) pathogenic	1 lab	53e18b39d8
11:18010240 SERGEF A>G	11	18010240	18010240	A	G	SERGEF	c.748T>C	NM_012139.4	NP_036271.1:p.(Phe250Leu)	NC_000011.9:g.18010240A>G	(Likely) benign	1 lab	53e2529e9a
3:53133511 RFT1 A>T	3	53133511	53133511	A	T	RFT1	c.1103-9T>A	NM_052859.4	NP_443091.1:p.?	NC_000003.11:g.53133511A>T	VUS	1 lab	53e4691210
16:2160140 PKD1 C>T	16	2160140	2160140	C	T	PKD1	c.5028G>A	NM_001009944.3	NP_001009944.3:p.(Leu1676=)	NC_000016.9:g.2160140C>T	(Likely) benign	1 lab	53e5af1f90
11:17485121 ABCC8 A>G	11	17485121	17485121	A	G	ABCC8	c.443T>C	NM_000352.6	NP_000343.2:p.(Ile148Thr)	NC_000011.9:g.17485121A>G	VUS	1 lab	53e5e383c1
17:7129898 DVL2 G>A	17	7129898	7129898	G	A	DVL2	c.1604C>T	NM_004422.3	NP_004413.1:p.(Thr535Ile)	NC_000017.10:g.7129898G>A	(Likely) benign	1 lab	53e63eb434
11:3128486 OSBPL5 C>G	11	3128486	3128486	C	G	OSBPL5	c.1059+7G>C	NM_020896.4	NP_065947.1:p.?	NC_000011.9:g.3128486C>G	VUS	1 lab	53e655ea83
6:161056224 LPA C>G	6	161056224	161056224	C	G	LPA	c.1006G>C	NM_005577.4	NP_005568.2:p.(Ala336Pro)	NC_000006.11:g.161056224C>G	(Likely) benign	1 lab	53e7a81c10
4:25125678 SEPSECS C>T	4	25125678	25125678	C	T	SEPSECS	c.1381G>A	NM_016955.4	NP_058651.3:p.(Val461Ile)	NC_000004.11:g.25125678C>T	(Likely) benign	1 lab	53e8070a73
16:56401349 AMFR G>A	16	56401349	56401349	G	A	AMFR	c.1599+7C>T	NM_001144.6	NP_001135.3:p.?	NC_000016.9:g.56401349G>A	(Likely) benign	1 lab	53e8ec3520
1:103540265 COL11A1 G>A	1	103540265	103540265	G	A	COL11A1	c.560C>T	NM_001854.4	NP_001845.3:p.(Thr187Met)	NC_000001.10:g.103540265G>A	VUS	1 lab	53e97bf69a
4:178354385 AGA T>C	4	178354385	178354385	T	C	AGA	c.923A>G	NM_000027.4	NP_000018.2:p.(Asn308Ser)	NC_000004.11:g.178354385T>C	(Likely) benign	1 lab	53eabfb9ba
9:36217439 GNE C>T	9	36217439	36217439	C	T	GNE	c.2092G>A	NM_005476.7	NP_005467.1:p.(Val698Ile)	NC_000009.11:g.36217439C>T	VUS	1 lab	53ed8baa8a
3:195511814 MUC4 T>C	3	195511814	195511814	T	C	MUC4	c.6637A>G	NM_018406.7	NP_060876.5:p.(Ser2213Gly)	NC_000003.11:g.195511814T>C	(Likely) benign	1 lab	53edab94aa
17:10544696 MYH3 G>A	17	10544696	10544696	G	A	MYH3	c.1960-7C>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10544696G>A	(Likely) benign	1 lab	53ee3a69be
2:47693936 MSH2 A>G	2	47693936	47693936	A	G	MSH2	c.1650A>G	NM_000251.3	NP_000242.1:p.(Lys550=)	NC_000002.11:g.47693936A>G	VUS	1 lab	53efece6dc
9:135946669 CEL C>A	9	135946669	135946669	C	A	CEL	c.1780C>A	NM_001807.6	NP_001798.3:p.(Pro594Thr)	NC_000009.11:g.135946669C>A	(Likely) benign	1 lab	53f1a3a533
2:176957778 HOXD13 T>A	2	176957778	176957778	T	A	HOXD13	c.160T>A	NM_000523.4	NP_000514.2:p.(Ser54Thr)	NC_000002.11:g.176957778T>A	(Likely) benign	1 lab	53f30f8f94
14:93686589 UBR7 C>T	14	93686589	93686589	C	T	UBR7	c.961-6C>T	NM_175748.4	NP_786924.2:p.?	NC_000014.8:g.93686589C>T	(Likely) benign	1 lab	53f36f2018
5:127609605 FBN2 T>C	5	127609605	127609605	T	C	FBN2	c.7767A>G	NM_001999.4	NP_001990.2:p.(Gln2589=)	NC_000005.9:g.127609605T>C	(Likely) benign	1 lab	53f37dacdc
18:5891239 TMEM200C G>C	18	5891239	5891239	G	C	TMEM200C	c.824C>G	NM_001395400.1	NP_001382329.1:p.(Ala275Gly)	NC_000018.9:g.5891239G>C	(Likely) benign	1 lab	53f3ac9e49
8:28574447 EXTL3 G>A	8	28574447	28574447	G	A	EXTL3	c.871G>A	NM_001440.4	NP_001431.1:p.(Val291Ile)	NC_000008.10:g.28574447G>A	VUS	1 lab	53f4b606c8
4:758851 PCGF3 A>G	4	758851	758851	A	G	PCGF3	c.680A>G	NM_006315.7	NP_006306.2:p.(Lys227Arg)	NC_000004.11:g.758851A>G	VUS	1 lab	53f4e1cc4a
14:57046768 TMEM260 C>A	14	57046768	57046768	C	A	TMEM260	c.136C>A	NM_017799.4	NP_060269.3:p.(Pro46Thr)	NC_000014.8:g.57046768C>A	(Likely) benign	1 lab	53f4efb5d7
8:94767260 TMEM67 T>TCTTTCC	8	94767260	94767272	T	TCTTTCC	TMEM67	c.125_130dup	NM_153704.6	NP_714915.3:p.(Pro42_Phe43dup)	NC_000008.10:g.94767267_94767272dup	VUS	1 lab	53f4f2772d
10:124266390 HTRA1 G>C	10	124266390	124266390	G	C	HTRA1	c.961G>C	NM_002775.5	NP_002766.1:p.(Ala321Pro)	NC_000010.10:g.124266390G>C	(Likely) pathogenic	1 lab	53f4fb36a6
12:108096762 PWP1 T>C	12	108096762	108096762	T	C	PWP1	c.857T>C	NM_007062.3	NP_008993.1:p.(Met286Thr)	NC_000012.11:g.108096762T>C	(Likely) benign	1 lab	53f9cae77d
5:37157805 CPLANE1 T>C	5	37157805	37157805	T	C	CPLANE1	c.7978A>G	NM_001384732.1	NP_001371661.1:p.(Asn2660Asp)	NC_000005.9:g.37157805T>C	(Likely) benign	1 lab	53fa342b69
16:53859939 FTO G>A	16	53859939	53859939	G	A	FTO	c.287G>A	NM_001080432.3	NP_001073901.1:p.(Arg96His)	NC_000016.9:g.53859939G>A	VUS	1 lab	53fbb0df9a
2:120635081 PTPN4 G>A	2	120635081	120635081	G	A	PTPN4	c.331G>A	NM_002830.4	NP_002821.1:p.(Val111Ile)	NC_000002.11:g.120635081G>A	VUS	1 lab	53fbf903f6
1:22834640 ZBTB40 G>A	1	22834640	22834640	G	A	ZBTB40	c.1497+10G>A	NM_014870.4	NP_055685.3:p.?	NC_000001.10:g.22834640G>A	(Likely) benign	1 lab	53fd030301
9:14775824 FREM1 C>T	9	14775824	14775824	C	T	FREM1	c.4820G>A	NM_001379081.2	NP_001366010.1:p.(Gly1607Glu)	NC_000009.11:g.14775824C>T	VUS	1 lab	53fec1706c
1:24128981 HMGCL T>C	1	24128981	24128981	T	C	HMGCL	c.950A>G	NM_000191.3	NP_000182.2:p.(Lys317Arg)	NC_000001.10:g.24128981T>C	VUS	1 lab	53ff0ff39b
17:10541372 MYH3 CA>C	17	10541372	10541373	CA	C	MYH3	c.3716del	NM_002470.4	NP_002461.2:p.(Val1239GlyfsTer19)	NC_000017.10:g.10541373del	(Likely) benign	1 lab	53ff9a5283
14:73685967 PSEN1 C>G	14	73685967	73685967	C	G	PSEN1	c.1374C>G	NM_000021.4	NP_000012.1:p.(Asp458Glu)	NC_000014.8:g.73685967C>G	VUS	1 lab	53ffa20394
11:47605992 NDUFS3 C>T	11	47605992	47605992	C	T	NDUFS3	c.754C>T	NM_004551.3	NP_004542.1:p.(Leu252Phe)	NC_000011.9:g.47605992C>T	VUS	1 lab	53ffdd78da
9:136573419 SARDH G>A	9	136573419	136573419	G	A	SARDH	c.1460C>T	NM_001134707.2	NP_001128179.1:p.(Pro487Leu)	NC_000009.11:g.136573419G>A	(Likely) benign	1 lab	5400d943a5
19:39336563 HNRNPL G>C	19	39336563	39336563	G	C	HNRNPL	c.554C>G	NM_001533.3	NP_001524.2:p.(Ser185Trp)	NC_000019.9:g.39336563G>C	VUS	1 lab	5401b344b8
5:141018591 RELL2 G>A	5	141018591	141018591	G	A	RELL2	c.317+3G>A	NM_173828.5	NP_776189.3:p.?	NC_000005.9:g.141018591G>A	(Likely) benign	1 lab	5402b2e15f
X:13624612 EGFL6 G>A	X	13624612	13624612	G	A	EGFL6	c.635G>A	NM_015507.4	NP_056322.2:p.(Ser212Asn)	NC_000023.10:g.13624612G>A	(Likely) benign	1 lab	5404e71b6a
19:1056244 ABCA7 T>G	19	1056244	1056244	T	G	ABCA7	c.4416+2T>G	NM_019112.4	NP_061985.2:p.?	NC_000019.9:g.1056244T>G	VUS	1 lab	540628493b
14:23853632 MYH6 T>G	14	23853632	23853632	T	G	MYH6	c.5565+19A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23853632T>G	(Likely) benign	1 lab	2108bea308
16:15814135 MYH11 C>T	16	15814135	15814135	C	T	MYH11	c.4826G>A	NM_002474.3	NP_002465.1:p.(Arg1609Gln)	NC_000016.9:g.15814135C>T	VUS	1 lab	54067c9f1d
17:40370282 STAT5B C>T	17	40370282	40370282	C	T	STAT5B	c.1056G>A	NM_012448.4	NP_036580.2:p.(Val352=)	NC_000017.10:g.40370282C>T	(Likely) benign	1 lab	5407cccaeb
6:43020322 CUL7 T>C	6	43020322	43020322	T	C	CUL7	c.205A>G	NM_014780.5	NP_055595.2:p.(Met69Val)	NC_000006.11:g.43020322T>C	VUS	1 lab	5407edc750
22:51121760 SHANK3 C>T	22	51121760	51121760	C	T	SHANK3	c.1111-8C>T	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51121760C>T	(Likely) benign	1 lab	5409850029
16:88792955 PIEZO1 G>T	16	88792955	88792955	G	T	PIEZO1	c.3796C>A	NM_001142864.4	NP_001136336.2:p.(Pro1266Thr)	NC_000016.9:g.88792955G>T	VUS	1 lab	204d9c48e3
16:334920 PDIA2 C>T	16	334920	334920	C	T	PDIA2	c.583C>T	NM_006849.4	NP_006840.2:p.(Gln195Ter)	NC_000016.9:g.334920C>T	VUS	1 lab	540b446177
7:107866736 NRCAM G>A	7	107866736	107866736	G	A	NRCAM	c.637C>T	NM_001037132.4	NP_001032209.1:p.(Arg213Cys)	NC_000007.13:g.107866736G>A	VUS	1 lab	540dbdd87b
9:126139326 CRB2 GGAGA>G	9	126139326	126139332	GGAGA	G	CRB2	c.3846_3849del	NM_173689.7	NP_775960.4:p.(Glu1282AspfsTer117)	NC_000009.11:g.126139329_126139332del	VUS	1 lab	540e653e56
16:89341579 ANKRD11 C>CAGGG	16	89341579	89341591	C	CAGGG	ANKRD11	c.7487_7490dup	NM_013275.6	NP_037407.4:p.(Ala2498ProfsTer35)	NC_000016.9:g.89341588_89341591dup	(Likely) pathogenic	1 lab	540fbb5a56
11:71153385 DHCR7 C>T	11	71153385	71153385	C	T	DHCR7	c.336G>A	NM_001360.3	NP_001351.2:p.(Thr112=)	NC_000011.9:g.71153385C>T	(Likely) benign	1 lab	540ffb1b3a
18:29444736 TRAPPC8 A>C	18	29444736	29444736	A	C	TRAPPC8	c.2599T>G	NM_014939.5	NP_055754.3:p.(Ser867Ala)	NC_000018.9:g.29444736A>C	VUS	1 lab	541050e236
6:90460171 MDN1 T>C	6	90460171	90460171	T	C	MDN1	c.3308A>G	NM_014611.3	NP_055426.1:p.(Asn1103Ser)	NC_000006.11:g.90460171T>C	VUS	1 lab	54109db246
2:29474048 ALK G>T	2	29474048	29474048	G	T	ALK	c.2127C>A	NM_004304.5	NP_004295.2:p.(Asn709Lys)	NC_000002.11:g.29474048G>T	(Likely) benign	1 lab	54132de638
22:36682828 MYH9 G>A	22	36682828	36682828	G	A	MYH9	c.4997C>T	NM_002473.6	NP_002464.1:p.(Ala1666Val)	NC_000022.10:g.36682828G>A	VUS	1 lab	54173f9083
3:183976082 EEF1AKMT4 C>T	3	183976082	183976082	C	T	EEF1AKMT4	c.487C>T	NM_032331.4	NP_115707.2:p.(Arg163Cys)	NC_000003.11:g.183976082C>T	VUS	1 lab	541779266e
7:23313738 GPNMB C>A	7	23313738	23313738	C	A	GPNMB	c.1578C>A	NM_002510.3	NP_002501.1:p.(Ser526Arg)	NC_000007.13:g.23313738C>A	(Likely) benign	1 lab	5417b22d34
16:88788415 PIEZO1 G>A	16	88788415	88788415	G	A	PIEZO1	c.5015C>T	NM_001142864.4	NP_001136336.2:p.(Ala1672Val)	NC_000016.9:g.88788415G>A	VUS	1 lab	541811bbf2
6:13014239 PHACTR1 C>A	6	13014239	13014239	C	A	PHACTR1	c.251-39358C>A	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13014239C>A	VUS	1 lab	541a0e3e5e
20:3211262 SLC4A11 C>T	20	3211262	3211262	C	T	SLC4A11	c.1314G>A	NM_001174089.2	NP_001167560.1:p.(Leu438=)	NC_000020.10:g.3211262C>T	VUS	1 lab	541c79811f
6:29640375 ZFP57 G>C	6	29640375	29640375	G	C	ZFP57	c.1513C>G	NM_001109809.5	NP_001103279.2:p.(Pro505Ala)	NC_000006.11:g.29640375G>C	VUS	1 lab	541e1f9ad6
14:74766892 ABCD4 C>T	14	74766892	74766892	C	T	ABCD4	c.118G>A	NM_005050.4	NP_005041.1:p.(Ala40Thr)	NC_000014.8:g.74766892C>T	VUS	1 lab	5420f8d126
12:49580594 TUBA1A A>G	12	49580594	49580594	A	G	TUBA1A	c.26T>C	NM_006009.4	NP_006000.2:p.(Val9Ala)	NC_000012.11:g.49580594A>G	(Likely) pathogenic	1 lab	5421c52ce6
2:179459188 TTN T>C	2	179459188	179459188	T	C	TTN	c.58033A>G	NM_001267550.2	NP_001254479.2:p.(Thr19345Ala)	NC_000002.11:g.179459188T>C	VUS	1 lab	542201ab76
12:49430982 KMT2D G>A	12	49430982	49430982	G	A	KMT2D	c.10157C>T	NM_003482.4	NP_003473.3:p.(Pro3386Leu)	NC_000012.11:g.49430982G>A	VUS	1 lab	5423c51e25
11:108128238 ATM A>T	11	108128238	108128238	A	T	ATM	c.2281A>T	NM_000051.4	NP_000042.3:p.(Thr761Ser)	NC_000011.9:g.108128238A>T	(Likely) benign	1 lab	5423d7f3b5
7:21583051 DNAH11 G>C	7	21583051	21583051	G	C	DNAH11	c.188G>C	NM_001277115.2	NP_001264044.1:p.(Gly63Ala)	NC_000007.13:g.21583051G>C	VUS	1 lab	5424b67005
19:55756953 PPP6R1 G>A	19	55756953	55756953	G	A	PPP6R1	c.321C>T	NM_014931.4	NP_055746.3:p.(Tyr107=)	NC_000019.9:g.55756953G>A	(Likely) benign	1 lab	5426c443d9
1:186276283 PRG4 ACTC>A	1	186276283	186276287	ACTC	A	PRG4	c.1434_1436del	NM_005807.6	NP_005798.3:p.(Pro479del)	NC_000001.10:g.186276285_186276287del	VUS	1 lab	5427658138
20:60904880 LAMA5 C>T	20	60904880	60904880	C	T	LAMA5	c.4072G>A	NM_005560.6	NP_005551.3:p.(Glu1358Lys)	NC_000020.10:g.60904880C>T	VUS	1 lab	542797f661
1:144854581 PDE4DIP T>C	1	144854581	144854581	T	C	PDE4DIP	c.7087A>G	NM_001395426.1	NP_001382355.1:p.(Thr2363Ala)	NC_000001.10:g.144854581T>C	VUS	1 lab	542845c84b
5:79950432 DHFR G>C	5	79950432	79950432	G	C	DHFR	c.-124C>G	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950432G>C	(Likely) benign	1 lab	5428eca26d
17:78064064 CCDC40 G>GGGCACGTGCACGAACAACACGGGACGCGCGCA	17	78064064	78064145	G	GGGCACGTGCACGAACAACACGGGACGCGCGCA	CCDC40	c.2832+431_2832+462dup	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064114_78064145dup	VUS	1 lab	542a765549
17:66914319 ABCA8 A>G	17	66914319	66914319	A	G	ABCA8	c.1916T>C	NM_001288985.2	NP_001275914.1:p.(Leu639Pro)	NC_000017.10:g.66914319A>G	VUS	1 lab	542aba176d
16:2817499 SRRM2 C>G	16	2817499	2817499	C	G	SRRM2	c.6970C>G	NM_016333.4	NP_057417.3:p.(Pro2324Ala)	NC_000016.9:g.2817499C>G	(Likely) benign	1 lab	542b4a9c84
1:161139499 PPOX T>C	1	161139499	161139499	T	C	PPOX	c.857T>C	NM_000309.5	NP_000300.1:p.(Ile286Thr)	NC_000001.10:g.161139499T>C	VUS	1 lab	204d9c58bc
3:172165726 GHSR C>A	3	172165726	172165726	C	A	GHSR	c.478G>T	NM_198407.2	NP_940799.1:p.(Val160Leu)	NC_000003.11:g.172165726C>A	VUS	1 lab	542eda8885
6:29640776 ZFP57 G>C	6	29640776	29640776	G	C	ZFP57	c.1112C>G	NM_001109809.5	NP_001103279.2:p.(Ser371Cys)	NC_000006.11:g.29640776G>C	VUS	1 lab	5432b031b8
22:36745052 MYH9 G>A	22	36745052	36745052	G	A	MYH9	c.230C>T	NM_002473.6	NP_002464.1:p.(Pro77Leu)	NC_000022.10:g.36745052G>A	VUS	1 lab	54bdf6bb8b
2:197183472 HECW2 A>C	2	197183472	197183472	A	C	HECW2	c.2142T>G	NM_001348768.2	NP_001335697.1:p.(Ser714Arg)	NC_000002.11:g.197183472A>C	(Likely) benign	1 lab	5433b9be67
12:46231741 ARID2 A>G	12	46231741	46231741	A	G	ARID2	c.1330+251A>G	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46231741A>G	(Likely) benign	1 lab	54342de83c
7:103193972 RELN A>C	7	103193972	103193972	A	C	RELN	c.6008T>G	NM_005045.4	NP_005036.2:p.(Val2003Gly)	NC_000007.13:g.103193972A>C	(Likely) benign	1 lab	54379e897a
9:139409970 NOTCH1 T>C	9	139409970	139409970	T	C	NOTCH1	c.1868A>G	NM_017617.5	NP_060087.3:p.(Asn623Ser)	NC_000009.11:g.139409970T>C	(Likely) benign	1 lab	543b5948df
17:55072931 SCPEP1 G>A	17	55072931	55072931	G	A	SCPEP1	c.721G>A	NM_021626.3	NP_067639.1:p.(Val241Ile)	NC_000017.10:g.55072931G>A	(Likely) benign	1 lab	543d7524bb
7:107002509 COG5 GA>G	7	107002509	107002512	GA	G	COG5	c.994del	NM_006348.5	NP_006339.4:p.(Ser332LeufsTer9)	NC_000007.13:g.107002512del	VUS	1 lab	543ed3d347
17:59479203 TBX2 G>A	17	59479203	59479203	G	A	TBX2	c.554G>A	NM_005994.4	NP_005985.3:p.(Arg185His)	NC_000017.10:g.59479203G>A	(Likely) benign	1 lab	54400024bf
11:124756981 ROBO4 C>G	11	124756981	124756981	C	G	ROBO4	c.2327G>C	NM_019055.6	NP_061928.4:p.(Arg776Pro)	NC_000011.9:g.124756981C>G	(Likely) benign	1 lab	54429a73f2
2:219501210 ZNF142 C>A	2	219501210	219501210	C	A	ZNF142	c.*1852G>T	NM_001379659.1	NP_001366588.1:p.?	NC_000002.11:g.219501210C>A	VUS	1 lab	5442aa18dc
4:106156071 TET2 A>G	4	106156071	106156071	A	G	TET2	c.972A>G	NM_001127208.3	NP_001120680.1:p.(Gln324=)	NC_000004.11:g.106156071A>G	(Likely) benign	1 lab	5442c46c94
17:39274452 KRTAP4-11 T>C	17	39274452	39274452	T	C	KRTAP4-11	c.116A>G	NM_033059.4	NP_149048.2:p.(Tyr39Cys)	NC_000017.10:g.39274452T>C	VUS	1 lab	5443ea6779
2:179615146 TTN G>A	2	179615146	179615146	G	A	TTN	c.11311+2705C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615146G>A	VUS	1 lab	54456eaa26
14:99723988 BCL11B C>T	14	99723988	99723988	C	T	BCL11B	c.247G>A	NM_138576.4	NP_612808.1:p.(Gly83Ser)	NC_000014.8:g.99723988C>T	(Likely) benign	1 lab	54465cd927
X:15353628 PIGA A>G	X	15353628	15353628	A	G	PIGA	c.-68T>C	NM_002641.4	NP_002632.1:p.?	NC_000023.10:g.15353628A>G	VUS	1 lab	5447148263
20:21686445 PAX1 C>T	20	21686445	21686445	C	T	PAX1	c.95C>T	NM_001257096.2	NP_001244025.1:p.(Ala32Val)	NC_000020.10:g.21686445C>T	VUS	1 lab	5447da349a
11:65325325 LTBP3 C>CCAGCAGCAGCAG	11	65325325	65325356	C	CCAGCAGCAGCAG	LTBP3	c.94_105dup	NM_001130144.3	NP_001123616.1:p.(Leu32_Leu35dup)	NC_000011.9:g.65325345_65325356dup	(Likely) benign	1 lab	54486d212b
X:114141431 HTR2C C>T	X	114141431	114141431	C	T	HTR2C	c.830C>T	NM_000868.4	NP_000859.2:p.(Ser277Phe)	NC_000023.10:g.114141431C>T	(Likely) benign	1 lab	54492ff05d
16:2159956 PKD1 G>C	16	2159956	2159956	G	C	PKD1	c.5212C>G	NM_001009944.3	NP_001009944.3:p.(Leu1738Val)	NC_000016.9:g.2159956G>C	VUS	1 lab	544ae4dcb9
19:47884255 DHX34 CATGAACCCTCCTTCCCTGA>C	19	47884255	47884275	CATGAACCCTCCTTCCCTGA	C	DHX34	c.3159+8_3159+26del	NM_014681.6	NP_055496.2:p.?	NC_000019.9:g.47884257_47884275del	VUS	1 lab	544b53462c
1:1284316 DVL1 C>A	1	1284316	1284316	C	A	DVL1	c.130G>T	NM_001330311.2	NP_001317240.1:p.(Ala44Ser)	NC_000001.10:g.1284316C>A	VUS	1 lab	544cb9c669
15:73622072 HCN4 A>G	15	73622072	73622072	A	G	HCN4	c.1432T>C	NM_005477.3	NP_005468.1:p.(Cys478Arg)	NC_000015.9:g.73622072A>G	(Likely) pathogenic	1 lab	204e09a670
7:44187446 GCK C>T	7	44187446	44187446	C	T	GCK	c.680-14G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44187446C>T	(Likely) benign	1 lab	544e0592d5
4:3219656 HTT A>G	4	3219656	3219656	A	G	HTT	c.7225A>G	NM_002111.8	NP_002102.4:p.(Ser2409Gly)	NC_000004.11:g.3219656A>G	VUS	1 lab	205111a257
2:234665659 UGT1A T>G	2	234665659	234665659	T	G	UGT1A				NC_000002.11:g.234665659T>G	(Likely) pathogenic	1 lab	6d438521bb
22:50900301 SBF1 G>A	22	50900301	50900301	G	A	SBF1	c.2570-3C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50900301G>A	(Likely) benign	1 lab	210f840db3
5:60827457 ZSWIM6 G>A	5	60827457	60827457	G	A	ZSWIM6	c.2150G>A	NM_020928.2	NP_065979.1:p.(Arg717Gln)	NC_000005.9:g.60827457G>A	VUS	1 lab	2052a11d42
12:114793402 TBX5 A>G	12	114793402	114793402	A	G	TBX5	c.1492T>C	NM_181486.4	NP_852259.1:p.(Ser498Pro)	NC_000012.11:g.114793402A>G	VUS	1 lab	545202d631
19:38997148 RYR1 C>T	19	38997148	38997148	C	T	RYR1	c.8654C>T	NM_000540.3	NP_000531.2:p.(Thr2885Met)	NC_000019.9:g.38997148C>T	(Likely) benign	1 lab	54530fc52a
3:58134440 FLNB T>G	3	58134440	58134440	T	G	FLNB	c.5952T>G	NM_001457.4	NP_001448.2:p.(His1984Gln)	NC_000003.11:g.58134440T>G	VUS	1 lab	54545276ae
17:10552908 MYH3 CCTT>C	17	10552908	10552917	CCTT	C	MYH3	c.625_627del	NM_002470.4	NP_002461.2:p.(Lys209del)	NC_000017.10:g.10552915_10552917del	VUS	1 lab	54554e09eb
16:67700062 ENKD1 TC>T	16	67700062	67700064	TC	T	ENKD1	c.191del	NM_032140.3	NP_115516.1:p.(Gly64GlufsTer23)	NC_000016.9:g.67700064del	VUS	1 lab	5455bf1de7
16:24582423 RBBP6 G>T	16	24582423	24582423	G	T	RBBP6	c.4036G>T	NM_006910.5	NP_008841.2:p.(Ala1346Ser)	NC_000016.9:g.24582423G>T	(Likely) benign	1 lab	5457870239
15:38643362 SPRED1 T>G	15	38643362	38643362	T	G	SPRED1	c.832T>G	NM_152594.3	NP_689807.1:p.(Ser278Ala)	NC_000015.9:g.38643362T>G	(Likely) benign	1 lab	545863fdd4
8:133894704 TG CTT>C	8	133894704	133894707	CTT	C	TG	c.746-8_746-7del	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133894706_133894707del	(Likely) benign	1 lab	5459ca0cca
X:152994682 ABCD1 C>T	X	152994682	152994682	C	T	ABCD1	c.901-5C>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.152994682C>T	(Likely) benign	1 lab	5459d71ca5
14:77843368 TMED8 G>T	14	77843368	77843368	G	T	TMED8	c.29C>A	NM_213601.3	NP_998766.1:p.(Pro10Gln)	NC_000014.8:g.77843368G>T	(Likely) benign	1 lab	545c8ad525
10:71697388 COL13A1 C>T	10	71697388	71697388	C	T	COL13A1	c.1798-3C>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71697388C>T	(Likely) benign	1 lab	545c9e2396
X:57618532 ZXDB C>CGGCGGCGGT	X	57618532	57618541	C	CGGCGGCGGT	ZXDB	c.52_60dup	NM_007157.4	NP_009088.1:p.(Gly18_Gly20dup)	NC_000023.10:g.57618533_57618541dup	(Likely) benign	1 lab	545ca11596
17:79638785 CCDC137 G>A	17	79638785	79638785	G	A	CCDC137	c.509G>A	NM_199287.3	NP_954981.1:p.(Arg170Gln)	NC_000017.10:g.79638785G>A	VUS	1 lab	545d2c63f9
14:100795375 SLC25A47 C>T	14	100795375	100795375	C	T	SLC25A47	c.640C>T	NM_207117.4	NP_997000.2:p.(Arg214Trp)	NC_000014.8:g.100795375C>T	(Likely) benign	1 lab	5460b4826c
16:2158309 PKD1 C>A	16	2158309	2158309	C	A	PKD1	c.6859G>T	NM_001009944.3	NP_001009944.3:p.(Glu2287Ter)	NC_000016.9:g.2158309C>A	(Likely) pathogenic	1 lab	5460de56f5
2:71825814 DYSF C>T	2	71825814	71825814	C	T	DYSF	c.3695C>T	NM_001130987.2	NP_001124459.1:p.(Pro1232Leu)	NC_000002.11:g.71825814C>T	(Likely) benign	1 lab	54611a0eb4
16:4949221 PPL C>T	16	4949221	4949221	C	T	PPL	c.768+3G>A	NM_002705.5	NP_002696.4:p.?	NC_000016.9:g.4949221C>T	(Likely) benign	1 lab	54615b0619
2:179642044 TTN G>A	2	179642044	179642044	G	A	TTN	c.4646C>T	NM_001267550.2	NP_001254479.2:p.(Ala1549Val)	NC_000002.11:g.179642044G>A	VUS	1 lab	5461c5e3ce
19:42880863 MEGF8 A>G	19	42880863	42880863	A	G	MEGF8	c.8474A>G	NM_001271938.2	NP_001258867.1:p.(His2825Arg)	NC_000019.9:g.42880863A>G	VUS	1 lab	5462878eb2
X:70514219 NONO T>C	X	70514219	70514219	T	C	NONO	c.491T>C	NM_007363.5	NP_031389.3:p.(Leu164Pro)	NC_000023.10:g.70514219T>C	VUS	1 lab	5462933d88
7:83606511 SEMA3A G>A	7	83606511	83606511	G	A	SEMA3A	c.1654C>T	NM_006080.3	NP_006071.1:p.(Arg552Cys)	NC_000007.13:g.83606511G>A	VUS	1 lab	2053f7272f
11:85967472 EED A>G	11	85967472	85967472	A	G	EED	c.470A>G	NM_003797.5	NP_003788.2:p.(Asn157Ser)	NC_000011.9:g.85967472A>G	VUS	1 lab	54655b935b
4:125593692 ANKRD50 AAAG>A	4	125593692	125593699	AAAG	A	ANKRD50	c.743-6_743-4del	NM_020337.3	NP_065070.1:p.?	NC_000004.11:g.125593697_125593699del	(Likely) benign	1 lab	54661f64ec
11:65998397 PACS1 G>A	11	65998397	65998397	G	A	PACS1	c.1612G>A	NM_018026.4	NP_060496.2:p.(Gly538Ser)	NC_000011.9:g.65998397G>A	(Likely) benign	1 lab	546673a6b2
2:197654689 GTF3C3 G>A	2	197654689	197654689	G	A	GTF3C3	c.641C>T	NM_012086.5	NP_036218.1:p.(Pro214Leu)	NC_000002.11:g.197654689G>A	VUS	1 lab	5466950b87
11:236280 SIRT3 G>C	11	236280	236280	G	C	SIRT3	c.49C>G	NM_012239.6	NP_036371.1:p.(Arg17Gly)	NC_000011.9:g.236280G>C	(Likely) benign	1 lab	5466c390e2
2:79253950 REG3G A>T	2	79253950	79253950	A	T	REG3G	c.188A>T	NM_001008387.3	NP_001008388.1:p.(Asp63Val)	NC_000002.11:g.79253950A>T	VUS	1 lab	5466fcf7bb
19:15311676 NOTCH3 G>T	19	15311676	15311676	G	T	NOTCH3	c.41C>A	NM_000435.3	NP_000426.2:p.(Pro14Gln)	NC_000019.9:g.15311676G>T	(Likely) benign	1 lab	54681392e5
22:24718174 SPECC1L G>T	22	24718174	24718174	G	T	SPECC1L	c.1226G>T	NM_015330.6	NP_056145.5:p.(Ser409Ile)	NC_000022.10:g.24718174G>T	VUS	1 lab	546c2f3e01
1:7724265 CAMTA1 C>T	1	7724265	7724265	C	T	CAMTA1	c.1658C>T	NM_015215.4	NP_056030.1:p.(Ala553Val)	NC_000001.10:g.7724265C>T	(Likely) benign	1 lab	546c965404
4:96075691 BMPR1B T>C	4	96075691	96075691	T	C	BMPR1B	c.1384-8T>C	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.96075691T>C	(Likely) benign	1 lab	546f1b69d4
16:89346865 ANKRD11 C>T	16	89346865	89346865	C	T	ANKRD11	c.6085G>A	NM_013275.6	NP_037407.4:p.(Val2029Ile)	NC_000016.9:g.89346865C>T	(Likely) benign	1 lab	546fa8f5b6
17:40354377 STAT5B A>G	17	40354377	40354377	A	G	STAT5B	c.2218T>C	NM_012448.4	NP_036580.2:p.(Tyr740His)	NC_000017.10:g.40354377A>G	VUS	1 lab	5470dfd56f
3:12627298 RAF1 T>C	3	12627298	12627298	T	C	RAF1	c.1418A>G	NM_002880.4	NP_002871.1:p.(Asn473Ser)	NC_000003.11:g.12627298T>C	VUS	1 lab	2053f86c34
17:17718146 SREBF1 C>A	17	17718146	17718146	C	A	SREBF1	c.2602+3G>T	NM_004176.5	NP_004167.3:p.?	NC_000017.10:g.17718146C>A	VUS	1 lab	54726b78f6
10:61829555 ANK3 C>A	10	61829555	61829555	C	A	ANK3	c.11084G>T	NM_020987.5	NP_066267.2:p.(Gly3695Val)	NC_000010.10:g.61829555C>A	(Likely) benign	1 lab	5473d27a2f
12:7177455 C1S C>T	12	7177455	7177455	C	T	C1S	c.1567C>T	NM_001734.5	NP_001725.1:p.(Arg523Ter)	NC_000012.11:g.7177455C>T	(Likely) pathogenic	1 lab	5473e1956b
X:63410342 AMER1 C>T	X	63410342	63410342	C	T	AMER1	c.2825G>A	NM_152424.4	NP_689637.3:p.(Arg942Gln)	NC_000023.10:g.63410342C>T	(Likely) benign	1 lab	5474e3eeaa
11:95564284 CEP57 TC>T	11	95564284	95564285	TC	T	CEP57	c.1368del	NM_014679.5	NP_055494.2:p.(Thr457GlnfsTer10)	NC_000011.9:g.95564285del	VUS	1 lab	54753a9264
18:43496110 EPG5 C>A	18	43496110	43496110	C	A	EPG5	c.3446G>T	NM_020964.3	NP_066015.2:p.(Trp1149Leu)	NC_000018.9:g.43496110C>A	VUS	1 lab	5475465108
16:2158432 PKD1 G>A	16	2158432	2158432	G	A	PKD1	c.6736C>T	NM_001009944.3	NP_001009944.3:p.(Gln2246Ter)	NC_000016.9:g.2158432G>A	(Likely) pathogenic	1 lab	54757ce78f
2:162273024 TBR1 C>A	2	162273024	162273024	C	A	TBR1	c.103C>A	NM_006593.4	NP_006584.1:p.(His35Asn)	NC_000002.11:g.162273024C>A	VUS	1 lab	5476170df5
19:41743948 AXL C>T	19	41743948	41743948	C	T	AXL	c.883C>T	NM_021913.5	NP_068713.2:p.(Arg295Trp)	NC_000019.9:g.41743948C>T	VUS	1 lab	54780addc5
1:171605582 MYOC C>T	1	171605582	171605582	C	T	MYOC	c.998G>A	NM_000261.2	NP_000252.1:p.(Ser333Asn)	NC_000001.10:g.171605582C>T	VUS	1 lab	54788671f6
14:76429821 TGFB3 T>C	14	76429821	76429821	T	C	TGFB3	c.764A>G	NM_003239.2	NP_003230.1:p.(Asn255Ser)	NC_000014.8:g.76429821T>C	(Likely) benign	1 lab	210f9549f2
12:56231389 MMP19 G>C	12	56231389	56231389	G	C	MMP19	c.1138C>G	NM_002429.6	NP_002420.1:p.(Leu380Val)	NC_000012.11:g.56231389G>C	VUS	1 lab	20541f7cd8
1:171303818 FMO4 G>C	1	171303818	171303818	G	C	FMO4	c.1096G>C	NM_002022.3	NP_002013.1:p.(Ala366Pro)	NC_000001.10:g.171303818G>C	VUS	1 lab	547af206a7
X:2839982 ARSD C>T	X	2839982	2839982	C	T	ARSD	c.278G>A	NM_001669.4	NP_001660.2:p.(Arg93Gln)	NC_000023.10:g.2839982C>T	VUS	1 lab	547b8ac69b
X:134711253 INTS6L C>A	X	134711253	134711253	C	A	INTS6L	c.2020C>A	NM_001351601.3	NP_001338530.1:p.(Pro674Thr)	NC_000023.10:g.134711253C>A	(Likely) benign	1 lab	547bde03c8
2:73762036 ALMS1 G>A	2	73762036	73762036	G	A	ALMS1	c.9867G>A	NM_001378454.1	NP_001365383.1:p.(Pro3289=)	NC_000002.11:g.73762036G>A	VUS	1 lab	547c83fcc2
4:85708829 WDFY3 G>A	4	85708829	85708829	G	A	WDFY3	c.3707C>T	NM_014991.6	NP_055806.2:p.(Ser1236Leu)	NC_000004.11:g.85708829G>A	(Likely) benign	1 lab	547d9264b3
6:129704272 LAMA2 C>T	6	129704272	129704272	C	T	LAMA2	c.4965C>T	NM_000426.4	NP_000417.3:p.(Thr1655=)	NC_000006.11:g.129704272C>T	(Likely) benign	1 lab	547e219e45
3:126747860 PLXNA1 G>A	3	126747860	126747860	G	A	PLXNA1	c.4694G>A	NM_032242.4	NP_115618.3:p.(Arg1565His)	NC_000003.11:g.126747860G>A	(Likely) benign	1 lab	547ff7f1aa
6:157522359 ARID1B C>T	6	157522359	157522359	C	T	ARID1B	c.5000C>T	NM_001374828.1	NP_001361757.1:p.(Pro1667Leu)	NC_000006.11:g.157522359C>T	(Likely) benign	1 lab	5481090f2e
7:65439622 GUSB T>C	7	65439622	65439622	T	C	GUSB	c.1135A>G	NM_000181.4	NP_000172.2:p.(Asn379Asp)	NC_000007.13:g.65439622T>C	VUS	1 lab	548217250a
14:36158267 RALGAPA1 G>A	14	36158267	36158267	G	A	RALGAPA1	c.3350C>T	NM_001346249.2	NP_001333178.1:p.(Thr1117Ile)	NC_000014.8:g.36158267G>A	VUS	1 lab	54824d0dc7
1:2340054 PEX10 C>T	1	2340054	2340054	C	T	PEX10	c.437G>A	NM_002617.4	NP_002608.1:p.(Arg146His)	NC_000001.10:g.2340054C>T	(Likely) benign	1 lab	5483981bd6
15:65369419 KBTBD13 A>AGGCGCC	15	65369419	65369430	A	AGGCGCC	KBTBD13	c.272_277dup	NM_001101362.3	NP_001094832.1:p.(Pro91_Ala92dup)	NC_000015.9:g.65369425_65369430dup	VUS	1 lab	54857c4fbb
7:143657104 OR2F1 T>C	7	143657104	143657104	T	C	OR2F1	c.41T>C	NM_012369.3	NP_036501.2:p.(Leu14Pro)	NC_000007.13:g.143657104T>C	(Likely) benign	1 lab	54866cd6da
12:31253609 DDX11 T>C	12	31253609	31253609	T	C	DDX11	c.1916T>C	NM_030653.4	NP_085911.2:p.(Val639Ala)	NC_000012.11:g.31253609T>C	(Likely) benign	1 lab	5488a760e0
X:149931185 MTMR1 G>A	X	149931185	149931185	G	A	MTMR1	c.2005G>A	NM_001306144.3	NP_001293073.1:p.(Val669Ile)	NC_000023.10:g.149931185G>A	(Likely) benign	1 lab	5489023f3d
12:121437145 HNF1A G>A	12	121437145	121437145	G	A	HNF1A	c.1576G>A	NM_000545.8	NP_000536.6:p.(Asp526Asn)	NC_000012.11:g.121437145G>A	(Likely) pathogenic	1 lab	548ae5abff
X:54044089 PHF8 C>T	X	54044089	54044089	C	T	PHF8	c.454+5G>A	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54044089C>T	VUS	1 lab	548c333487
15:48719832 FBN1 G>A	15	48719832	48719832	G	A	FBN1	c.7136C>T	NM_000138.5	NP_000129.3:p.(Pro2379Leu)	NC_000015.9:g.48719832G>A	VUS	1 lab	548e798da4
7:158726827 DYNC2I1 CATAAAGGTA>C	7	158726827	158726838	CATAAAGGTA	C	DYNC2I1	c.2557_2565del	NM_018051.5	NP_060521.4:p.(Lys853_Asn855del)	NC_000007.13:g.158726830_158726838del	VUS	1 lab	549189d14d
6:33173607 HSD17B8 A>G	6	33173607	33173607	A	G	HSD17B8	c.569A>G	NM_014234.5	NP_055049.1:p.(His190Arg)	NC_000006.11:g.33173607A>G	(Likely) benign	1 lab	5491c91cae
1:154227292 UBAP2L G>GTT	1	154227292	154227306	G	GTT	UBAP2L	c.1855-7_1855-6dup	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154227305_154227306dup	(Likely) benign	1 lab	5491e25dd6
3:100119697 TOMM70 T>C	3	100119697	100119697	T	C	TOMM70	c.97A>G	NM_014820.5	NP_055635.3:p.(Thr33Ala)	NC_000003.11:g.100119697T>C	(Likely) benign	1 lab	549238f0d5
2:71909742 DYSF A>G	2	71909742	71909742	A	G	DYSF	c.6256A>G	NM_001130987.2	NP_001124459.1:p.(Ile2086Val)	NC_000002.11:g.71909742A>G	VUS	1 lab	54925907eb
7:100680293 MUC17 AG>A	7	100680293	100680294	AG	A	MUC17	c.5597del	NM_001040105.2	NP_001035194.1:p.(Ser1866ThrfsTer4)	NC_000007.13:g.100680294del	(Likely) benign	1 lab	54932bc9d4
1:116926636 ATP1A1 G>T	1	116926636	116926636	G	T	ATP1A1	c.13G>T	NM_000701.8	NP_000692.2:p.(Val5Phe)	NC_000001.10:g.116926636G>T	(Likely) benign	1 lab	54948eaf58
6:49696553 CRISP3 C>T	6	49696553	49696553	C	T	CRISP3	c.667G>A	NM_006061.4	NP_006052.2:p.(Glu223Lys)	NC_000006.11:g.49696553C>T	VUS	1 lab	549568a683
8:68030612 CSPP1 A>G	8	68030612	68030612	A	G	CSPP1	c.1618+8A>G	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.68030612A>G	(Likely) benign	1 lab	54961938ce
1:6203896 CHD5 G>A	1	6203896	6203896	G	A	CHD5	c.2030C>T	NM_015557.3	NP_056372.1:p.(Thr677Met)	NC_000001.10:g.6203896G>A	VUS	1 lab	54963cd5ed
5:80083383 MSH3 G>A	5	80083383	80083383	G	A	MSH3	c.2436-1G>A	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80083383G>A	(Likely) pathogenic	1 lab	549678247b
18:2960644 LPIN2 C>T	18	2960644	2960644	C	T	LPIN2	c.192+3G>A	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2960644C>T	(Likely) benign	1 lab	2112651df5
9:73152326 TRPM3 G>A	9	73152326	73152326	G	A	TRPM3	c.3708-5C>T	NM_001366145.2	NP_001353074.1:p.?	NC_000009.11:g.73152326G>A	(Likely) benign	1 lab	5497c97c50
6:158589152 SERAC1 C>A	6	158589152	158589152	C	A	SERAC1	c.-2+20G>T	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158589152C>A	(Likely) benign	1 lab	2113c69cb4
19:42875549 MEGF8 C>T	19	42875549	42875549	C	T	MEGF8	c.7184C>T	NM_001271938.2	NP_001258867.1:p.(Thr2395Met)	NC_000019.9:g.42875549C>T	VUS	1 lab	549abe98e9
11:133795867 IGSF9B C>T	11	133795867	133795867	C	T	IGSF9B	c.1808-7G>A	NM_001277285.4	NP_001264214.1:p.?	NC_000011.9:g.133795867C>T	(Likely) benign	1 lab	549b5aca55
11:73677196 DNAJB13 A>G	11	73677196	73677196	A	G	DNAJB13	c.506A>G	NM_153614.4	NP_705842.2:p.(Asp169Gly)	NC_000011.9:g.73677196A>G	VUS	1 lab	54a086f67e
20:62044935 KCNQ2 C>G	20	62044935	62044935	C	G	KCNQ2	c.1632-1G>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62044935C>G	VUS	1 lab	54a0d7ba59
22:36681954 MYH9 G>A	22	36681954	36681954	G	A	MYH9	c.5107C>T	NM_002473.6	NP_002464.1:p.(Arg1703Trp)	NC_000022.10:g.36681954G>A	VUS	1 lab	54a32a37b5
14:70418999 SMOC1 G>A	14	70418999	70418999	G	A	SMOC1	c.244G>A	NM_001034852.3	NP_001030024.1:p.(Val82Met)	NC_000014.8:g.70418999G>A	(Likely) benign	1 lab	54a3f6a835
4:108853112 CYP2U1 G>A	4	108853112	108853112	G	A	CYP2U1	c.313G>A	NM_183075.3	NP_898898.1:p.(Val105Met)	NC_000004.11:g.108853112G>A	(Likely) benign	1 lab	54a635a8ae
20:60982043 CABLES2 G>A	20	60982043	60982043	G	A	CABLES2	c.290C>T	NM_031215.3	NP_112492.2:p.(Thr97Ile)	NC_000020.10:g.60982043G>A	VUS	1 lab	54a67a1f17
10:50954854 OGDHL A>G	10	50954854	50954854	A	G	OGDHL	c.1238T>C	NM_018245.3	NP_060715.2:p.(Leu413Pro)	NC_000010.10:g.50954854A>G	VUS	1 lab	54a6bbcb2b
X:48972118 GPKOW G>A	X	48972118	48972118	G	A	GPKOW	c.1172C>T	NM_015698.6	NP_056513.2:p.(Thr391Ile)	NC_000023.10:g.48972118G>A	(Likely) benign	1 lab	54a8a6bf8c
8:145004185 PLEC C>T	8	145004185	145004185	C	T	PLEC	c.2658G>A	NM_201384.3	NP_958786.1:p.(Leu886=)	NC_000008.10:g.145004185C>T	(Likely) benign	1 lab	54a9cb741e
19:5131123 KDM4B A>C	19	5131123	5131123	A	C	KDM4B	c.1352A>C	NM_015015.3	NP_055830.1:p.(Lys451Thr)	NC_000019.9:g.5131123A>C	(Likely) benign	1 lab	54aa94275d
11:17170310 PIK3C2A A>G	11	17170310	17170310	A	G	PIK3C2A	c.1352T>C	NM_002645.4	NP_002636.2:p.(Ile451Thr)	NC_000011.9:g.17170310A>G	VUS	1 lab	54aaefaf5b
8:145007346 PLEC A>T	8	145007346	145007346	A	T	PLEC	c.1418+19T>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145007346A>T	(Likely) benign	1 lab	54ade0adb4
2:152506812 NEB G>A	2	152506812	152506812	G	A	NEB	c.7309C>T	NM_001164508.2	NP_001157980.2:p.(Arg2437Trp)	NC_000002.11:g.152506812G>A	VUS	1 lab	54b1147f1e
9:80049297 GNA14 C>CT	9	80049297	80049298	C	CT	GNA14	c.450_451insA	NM_004297.4	NP_004288.1:p.(Asp151ArgfsTer9)	NC_000009.11:g.80049297_80049298insT	VUS	1 lab	54b164023c
12:21958216 ABCC9 G>T	12	21958216	21958216	G	T	ABCC9	c.4542C>A	NM_005691.2	NP_005682.2:p.(Gly1514=)	NC_000012.11:g.21958216G>T	(Likely) benign	1 lab	35c3e596c7
X:77395063 TAF9B C>A	X	77395063	77395063	C	A	TAF9B	c.46G>T	NM_015975.5	NP_057059.2:p.(Ala16Ser)	NC_000023.10:g.77395063C>A	(Likely) benign	1 lab	54b234cdff
15:22383318 OR4N4 G>T	15	22383318	22383318	G	T	OR4N4	c.846G>T	NM_001005241.4	NP_001005241.2:p.(Met282Ile)	NC_000015.9:g.22383318G>T	VUS	1 lab	54b242e3b2
2:197135980 HECW2 T>A	2	197135980	197135980	T	A	HECW2	c.3272A>T	NM_001348768.2	NP_001335697.1:p.(Gln1091Leu)	NC_000002.11:g.197135980T>A	VUS	1 lab	54b4104143
2:179465808 TTN C>A	2	179465808	179465808	C	A	TTN	c.55823G>T	NM_001267550.2	NP_001254479.2:p.(Gly18608Val)	NC_000002.11:g.179465808C>A	VUS	1 lab	54b6c2dda5
5:67593237 PIK3R1 T>C	5	67593237	67593237	T	C	PIK3R1	c.1986-3T>C	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67593237T>C	(Likely) benign	1 lab	54b977b83b
4:126370702 FAT4 G>A	4	126370702	126370702	G	A	FAT4	c.8531G>A	NM_024582.6	NP_078858.4:p.(Arg2844Gln)	NC_000004.11:g.126370702G>A	VUS	1 lab	205b30ee29
9:35805592 NPR2 C>G	9	35805592	35805592	C	G	NPR2	c.1972C>G	NM_003995.4	NP_003986.2:p.(Leu658Val)	NC_000009.11:g.35805592C>G	VUS	1 lab	54bd3ef3c4
11:67069107 ANKRD13D C>T	11	67069107	67069107	C	T	ANKRD13D	c.1497C>T	NM_207354.3	NP_997237.2:p.(Gly499=)	NC_000011.9:g.67069107C>T	VUS	1 lab	54bd748f6e
19:10089875 COL5A3 G>A	19	10089875	10089875	G	A	COL5A3	c.2807C>T	NM_015719.4	NP_056534.2:p.(Pro936Leu)	NC_000019.9:g.10089875G>A	VUS	1 lab	54bdbf1970
4:88535823 DSPP A>G	4	88535823	88535823	A	G	DSPP	c.2009A>G	NM_014208.3	NP_055023.2:p.(Asp670Gly)	NC_000004.11:g.88535823A>G	(Likely) benign	1 lab	54be68a7bc
19:14267858 ADGRL1 C>T	19	14267858	14267858	C	T	ADGRL1	c.2845G>A	NM_014921.5	NP_055736.2:p.(Glu949Lys)	NC_000019.9:g.14267858C>T	VUS	1 lab	54beabaf45
8:61768642 CHD7 T>C	8	61768642	61768642	T	C	CHD7	c.7045T>C	NM_017780.4	NP_060250.2:p.(Tyr2349His)	NC_000008.10:g.61768642T>C	VUS	1 lab	205c29ed7f
17:18058715 MYO15A GGCGGGCAGCTGCGGGTCCT>G	17	18058715	18058737	GGCGGGCAGCTGCGGGTCCT	G	MYO15A	c.8432_8450del	NM_016239.4	NP_057323.3:p.(Gly2811ValfsTer11)	NC_000017.10:g.18058719_18058737del	(Likely) pathogenic	1 lab	54c2d24d32
14:75515186 MLH3 C>T	14	75515186	75515186	C	T	MLH3	c.1173G>A	NM_001040108.2	NP_001035197.1:p.(Gln391=)	NC_000014.8:g.75515186C>T	VUS	1 lab	54c3b5c4b0
1:22158013 HSPG2 C>A	1	22158013	22158013	C	A	HSPG2	c.11395G>T	NM_005529.7	NP_005520.4:p.(Gly3799Cys)	NC_000001.10:g.22158013C>A	VUS	1 lab	54c45e9ac0
15:67073710 SMAD6 GC>G	15	67073710	67073711	GC	G	SMAD6	c.1329del	NM_005585.5	NP_005576.3:p.(Ser444ArgfsTer95)	NC_000015.9:g.67073711del	VUS	1 lab	54c4ce910d
13:23915656 SACS A>G	13	23915656	23915656	A	G	SACS	c.2359T>C	NM_014363.6	NP_055178.3:p.(Tyr787His)	NC_000013.10:g.23915656A>G	VUS	1 lab	54c6490968
12:7053212 C12orf57 C>T	12	7053212	7053212	C	T	C12orf57	c.-73C>T	NM_138425.4	NP_612434.1:p.?	NC_000012.11:g.7053212C>T	VUS	1 lab	54c71e8c3b
X:140993944 MAGEC1 T>TCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG	X	140993944	140993945	T	TCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG	MAGEC1	c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG	NM_005462.5	NP_005453.2:p.(Phe252SerfsTer35)	NC_000023.10:g.140993944_140993945insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG	VUS	1 lab	54c7af7b27
20:43052768 HNF4A G>A	20	43052768	43052768	G	A	HNF4A	c.1003G>A	NM_000457.5	NP_000448.3:p.(Gly335Arg)	NC_000020.10:g.43052768G>A	(Likely) pathogenic	1 lab	54c8fc40d7
1:170501316 GORAB C>CG	1	170501316	170501317	C	CG	GORAB	c.-48dup	NM_152281.3	NP_689494.3:p.?	NC_000001.10:g.170501317dup	VUS	1 lab	54cc850634
2:10584730 ODC1 A>G	2	10584730	10584730	A	G	ODC1	c.146T>C	NM_002539.3	NP_002530.1:p.(Leu49Pro)	NC_000002.11:g.10584730A>G	VUS	1 lab	54cec421ea
19:51192154 SHANK1 C>T	19	51192154	51192154	C	T	SHANK1	c.2119G>A	NM_016148.5	NP_057232.2:p.(Glu707Lys)	NC_000019.9:g.51192154C>T	(Likely) benign	1 lab	54d371275a
3:126736307 PLXNA1 G>A	3	126736307	126736307	G	A	PLXNA1	c.3316G>A	NM_032242.4	NP_115618.3:p.(Ala1106Thr)	NC_000003.11:g.126736307G>A	VUS	1 lab	54d3939e76
1:235887412 LYST C>G	1	235887412	235887412	C	G	LYST	c.9231G>C	NM_000081.4	NP_000072.2:p.(Lys3077Asn)	NC_000001.10:g.235887412C>G	(Likely) benign	1 lab	54d4f527cc
4:82027082 PRKG2 AG>A	4	82027082	82027085	AG	A	PRKG2	c.1947del	NM_006259.3	NP_006250.1:p.(Ser651LeufsTer6)	NC_000004.11:g.82027085del	(Likely) pathogenic	1 lab	54d5205498
4:110222890 COL25A1 G>A	4	110222890	110222890	G	A	COL25A1	c.286C>T	NM_198721.4	NP_942014.1:p.(Leu96Phe)	NC_000004.11:g.110222890G>A	VUS	1 lab	54d5315c5c
4:85600122 WDFY3 T>A	4	85600122	85600122	T	A	WDFY3	c.10097A>T	NM_014991.6	NP_055806.2:p.(His3366Leu)	NC_000004.11:g.85600122T>A	VUS	1 lab	54d6118025
2:179541964 TTN C>T	2	179541964	179541964	C	T	TTN	c.34342G>A	NM_001267550.2	NP_001254479.2:p.(Ala11448Thr)	NC_000002.11:g.179541964C>T	VUS	1 lab	54d7de4118
16:88504230 ZNF469 G>A	16	88504230	88504230	G	A	ZNF469	c.10352G>A	NM_001367624.2	NP_001354553.1:p.(Arg3451His)	NC_000016.9:g.88504230G>A	VUS	1 lab	54d835b8d6
22:20103735 RANBP1 C>T	22	20103735	20103735	C	T	RANBP1	c.28C>T	NM_001278639.2	NP_001265568.1:p.(Arg10Cys)	NC_000022.10:g.20103735C>T	(Likely) benign	1 lab	54da4f9ec4
2:74686833 WBP1 G>A	2	74686833	74686833	G	A	WBP1	c.133G>A	NM_012477.4	NP_036609.1:p.(Gly45Arg)	NC_000002.11:g.74686833G>A	VUS	1 lab	54dda0d6a9
6:157099402 ARID1B CCAGCAGCAGCAGCAGCAGCAGCAA>C	6	157099402	157099455	CCAGCAGCAGCAGCAGCAGCAGCAA	C	ARID1B	c.618_641del	NM_001374828.1	NP_001361757.1:p.(Gln207_Gln214del)	NC_000006.11:g.157099432_157099455del	(Likely) benign	1 lab	54ddcf31c4
2:210806055 UNC80 A>G	2	210806055	210806055	A	G	UNC80	c.6757A>G	NM_001371986.1	NP_001358915.1:p.(Met2253Val)	NC_000002.11:g.210806055A>G	VUS	1 lab	54df3de7d9
2:163074587 FAP G>A	2	163074587	163074587	G	A	FAP	c.671C>T	NM_004460.5	NP_004451.2:p.(Ala224Val)	NC_000002.11:g.163074587G>A	(Likely) benign	1 lab	54e0d84c80
4:6303010 WFS1 GGTC>G	4	6303010	6303016	GGTC	G	WFS1	c.1492_1494del	NM_006005.3	NP_005996.2:p.(Val498del)	NC_000004.11:g.6303014_6303016del	VUS	1 lab	54e27e7806
10:96025714 PLCE1 A>G	10	96025714	96025714	A	G	PLCE1	c.4280A>G	NM_016341.4	NP_057425.3:p.(Gln1427Arg)	NC_000010.10:g.96025714A>G	VUS	1 lab	54e2a4de4d
19:38943461 RYR1 G>A	19	38943461	38943461	G	A	RYR1	c.1247G>A	NM_000540.3	NP_000531.2:p.(Ser416Asn)	NC_000019.9:g.38943461G>A	(Likely) benign	1 lab	54e3f3b70e
3:38889240 SCN11A A>G	3	38889240	38889240	A	G	SCN11A	c.4328-7T>C	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38889240A>G	(Likely) benign	1 lab	54e4e979e4
9:6604589 GLDC T>C	9	6604589	6604589	T	C	GLDC	c.1057A>G	NM_000170.3	NP_000161.2:p.(Arg353Gly)	NC_000009.11:g.6604589T>C	VUS	1 lab	54e4eb882f
15:100871184 ADAMTS17 G>C	15	100871184	100871184	G	C	ADAMTS17	c.526C>G	NM_139057.4	NP_620688.2:p.(Arg176Gly)	NC_000015.9:g.100871184G>C	VUS	1 lab	54e74355bf
18:42532129 SETBP1 C>T	18	42532129	42532129	C	T	SETBP1	c.2824C>T	NM_015559.3	NP_056374.2:p.(Arg942Trp)	NC_000018.9:g.42532129C>T	(Likely) benign	1 lab	54e76fc30b
1:27878095 AHDC1 G>A	1	27878095	27878095	G	A	AHDC1	c.532C>T	NM_001371928.1	NP_001358857.1:p.(Arg178Cys)	NC_000001.10:g.27878095G>A	VUS	1 lab	54e99fa871
22:26165402 MYO18B G>A	22	26165402	26165402	G	A	MYO18B	c.1512+7G>A	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26165402G>A	(Likely) benign	1 lab	54eacc2d7b
7:69572563 AUTS2 C>T	7	69572563	69572563	C	T	AUTS2	c.523-10555C>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69572563C>T	(Likely) benign	1 lab	54eb2bd959
18:19757078 GATA6 G>T	18	19757078	19757078	G	T	GATA6	c.1298G>T	NM_005257.6	NP_005248.2:p.(Arg433Leu)	NC_000018.9:g.19757078G>T	(Likely) benign	1 lab	54eb623bcc
7:33060946 NT5C3A A>G	7	33060946	33060946	A	G	NT5C3A	c.240T>C	NM_001166118.3	NP_001159590.1:p.(Tyr80=)	NC_000007.13:g.33060946A>G	(Likely) benign	1 lab	205e4b9356
1:248084464 OR2T8 T>G	1	248084464	248084464	T	G	OR2T8	c.145T>G	NM_001005522.2	NP_001005522.1:p.(Trp49Gly)	NC_000001.10:g.248084464T>G	(Likely) benign	1 lab	54ec1aefa0
19:5111550 KDM4B G>A	19	5111550	5111550	G	A	KDM4B	c.1115+721G>A	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5111550G>A	(Likely) benign	1 lab	54ec566e1f
1:223179298 DISP1 T>C	1	223179298	223179298	T	C	DISP1	c.4559T>C	NM_001377229.1	NP_001364158.1:p.(Leu1520Ser)	NC_000001.10:g.223179298T>C	VUS	1 lab	54ec976cad
11:44146337 EXT2 A>C	11	44146337	44146337	A	C	EXT2	c.744-2A>C	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44146337A>C	(Likely) pathogenic	1 lab	54f03f3e55
1:1275863 DVL1 T>C	1	1275863	1275863	T	C	DVL1	c.626A>G	NM_001330311.2	NP_001317240.1:p.(Gln209Arg)	NC_000001.10:g.1275863T>C	(Likely) benign	1 lab	54f0c26310
12:132633435 NOC4L ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC>A	12	132633435	132633589	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	A	NOC4L	c.901+18_901+149del	NM_024078.3	NP_076983.1:p.?	NC_000012.11:g.132633458_132633589del	(Likely) benign	1 lab	54f221b7d6
15:66727423 MAP2K1 C>T	15	66727423	66727423	C	T	MAP2K1	c.139C>T	NM_002755.4	NP_002746.1:p.(Arg47Ter)	NC_000015.9:g.66727423C>T	VUS	1 lab	54f35685ec
9:406969 DOCK8 G>A	9	406969	406969	G	A	DOCK8	c.3430G>A	NM_203447.4	NP_982272.2:p.(Ala1144Thr)	NC_000009.11:g.406969G>A	(Likely) benign	1 lab	54f5025c30
9:135946702 CEL C>A	9	135946702	135946702	C	A	CEL	c.1813C>A	NM_001807.6	NP_001798.3:p.(Pro605Thr)	NC_000009.11:g.135946702C>A	(Likely) benign	1 lab	54f5bfd955
17:48149503 ITGA3 A>T	17	48149503	48149503	A	T	ITGA3	c.1113A>T	NM_002204.4	NP_002195.1:p.(Leu371Phe)	NC_000017.10:g.48149503A>T	(Likely) benign	1 lab	211663959e
12:65152909 GNS C>T	12	65152909	65152909	C	T	GNS	c.148G>A	NM_002076.4	NP_002067.1:p.(Val50Met)	NC_000012.11:g.65152909C>T	VUS	1 lab	54f641f4d5
13:101753233 NALCN T>C	13	101753233	101753233	T	C	NALCN	c.3064A>G	NM_052867.4	NP_443099.1:p.(Ile1022Val)	NC_000013.10:g.101753233T>C	VUS	1 lab	54f69d8813
16:25228368 AQP8 T>C	16	25228368	25228368	T	C	AQP8	c.2T>C	NM_001169.3	NP_001160.2:p.(Met1?)	NC_000016.9:g.25228368T>C	VUS	1 lab	54f70fb587
11:22281156 ANO5 C>T	11	22281156	22281156	C	T	ANO5	c.1499C>T	NM_213599.3	NP_998764.1:p.(Ser500Phe)	NC_000011.9:g.22281156C>T	(Likely) pathogenic	1 lab	54f971841e
X:48814253 OTUD5 C>A	X	48814253	48814253	C	A	OTUD5	c.580G>T	NM_001136157.2	NP_001129629.1:p.(Ala194Ser)	NC_000023.10:g.48814253C>A	VUS	1 lab	54faae88ab
13:100635019 ZIC2 A>C	13	100635019	100635019	A	C	ZIC2	c.701A>C	NM_007129.5	NP_009060.2:p.(His234Pro)	NC_000013.10:g.100635019A>C	VUS	1 lab	54fae68f64
16:1642178 IFT140 G>A	16	1642178	1642178	G	A	IFT140	c.633C>T	NM_014714.4	NP_055529.2:p.(Asp211=)	NC_000016.9:g.1642178G>A	(Likely) benign	1 lab	54fcad6617
2:98206060 ANKRD36B C>T	2	98206060	98206060	C	T	ANKRD36B	c.89G>A	NM_001393939.1	NP_001380868.1:p.(Arg30His)	NC_000002.11:g.98206060C>T	VUS	1 lab	54fd473502
16:21136598 DNAH3 AAT>A	16	21136598	21136600	AAT	A	DNAH3	c.1213_1214del	NM_001347886.2	NP_001334815.1:p.(Ile405Ter)	NC_000016.9:g.21136599_21136600del	VUS	1 lab	54feec6f9c
17:78063687 CCDC40 A>G	17	78063687	78063687	A	G	CCDC40	c.2832+4A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063687A>G	VUS	1 lab	54ff56cae1
16:87417292 FBXO31 T>G	16	87417292	87417292	T	G	FBXO31	c.59A>C	NM_024735.5	NP_079011.3:p.(Gln20Pro)	NC_000016.9:g.87417292T>G	VUS	1 lab	5501c719fc
20:49209674 RIPOR3 G>T	20	49209674	49209674	G	T	RIPOR3	c.2272C>A	NM_001290268.2	NP_001277197.1:p.(Leu758Ile)	NC_000020.10:g.49209674G>T	(Likely) benign	1 lab	5501e9d27f
21:43171386 RIPK4 G>A	21	43171386	43171386	G	A	RIPK4	c.494C>T	NM_020639.3	NP_065690.2:p.(Ala165Val)	NC_000021.8:g.43171386G>A	VUS	1 lab	550214dd53
3:183961643 ALG3 G>T	3	183961643	183961643	G	T	ALG3	c.868C>A	NM_005787.6	NP_005778.1:p.(His290Asn)	NC_000003.11:g.183961643G>T	VUS	1 lab	55023e3513
2:210808171 UNC80 A>G	2	210808171	210808171	A	G	UNC80	c.6983A>G	NM_001371986.1	NP_001358915.1:p.(Tyr2328Cys)	NC_000002.11:g.210808171A>G	VUS	1 lab	5503dcb171
X:32235148 DMD C>T	X	32235148	32235148	C	T	DMD	c.6323G>A	NM_004006.3	NP_003997.2:p.(Arg2108His)	NC_000023.10:g.32235148C>T	(Likely) benign	1 lab	5503e4a80d
15:99451936 IGF1R G>A	15	99451936	99451936	G	A	IGF1R	c.1270G>A	NM_000875.5	NP_000866.1:p.(Asp424Asn)	NC_000015.9:g.99451936G>A	VUS	1 lab	5506dfc83f
X:140994128 MAGEC1 C>A	X	140994128	140994128	C	A	MAGEC1	c.938C>A	NM_005462.5	NP_005453.2:p.(Ser313Tyr)	NC_000023.10:g.140994128C>A	(Likely) benign	1 lab	550777377e
11:121174248 SC5D A>G	11	121174248	121174248	A	G	SC5D	c.164A>G	NM_006918.5	NP_008849.2:p.(Tyr55Cys)	NC_000011.9:g.121174248A>G	VUS	1 lab	550a803493
19:39412170 SARS2 G>A	19	39412170	39412170	G	A	SARS2	c.531C>T	NM_017827.4	NP_060297.1:p.(Asp177=)	NC_000019.9:g.39412170G>A	(Likely) benign	1 lab	21202e5df6
1:1455577 ATAD3A G>A	1	1455577	1455577	G	A	ATAD3A	c.571G>A	NM_001170535.3	NP_001164006.1:p.(Ala191Thr)	NC_000001.10:g.1455577G>A	(Likely) benign	1 lab	550dfd5b1c
17:36895047 PCGF2 A>C	17	36895047	36895047	A	C	PCGF2	c.384T>G	NM_007144.3	NP_009075.1:p.(Asp128Glu)	NC_000017.10:g.36895047A>C	(Likely) benign	1 lab	550e4e7739
7:72744239 FKBP6 T>A	7	72744239	72744239	T	A	FKBP6	c.352T>A	NM_003602.5	NP_003593.3:p.(Tyr118Asn)	NC_000007.13:g.72744239T>A	VUS	1 lab	550ff713fa
14:75515499 MLH3 C>T	14	75515499	75515499	C	T	MLH3	c.860G>A	NM_001040108.2	NP_001035197.1:p.(Ser287Asn)	NC_000014.8:g.75515499C>T	VUS	1 lab	551024addf
4:88236759 HSD17B13 A>C	4	88236759	88236759	A	C	HSD17B13	c.451-8T>G	NM_178135.5	NP_835236.2:p.?	NC_000004.11:g.88236759A>C	VUS	1 lab	5510f28dd9
17:65845896 BPTF A>C	17	65845896	65845896	A	C	BPTF	c.614-4160A>C	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65845896A>C	(Likely) benign	1 lab	55111e8304
22:50943101 LMF2 A>G	22	50943101	50943101	A	G	LMF2	c.1493T>C	NM_033200.3	NP_149977.2:p.(Val498Ala)	NC_000022.10:g.50943101A>G	VUS	1 lab	5511abda08
1:19228955 ALDH4A1 C>T	1	19228955	19228955	C	T	ALDH4A1	c.62+1G>A	NM_003748.4	NP_003739.2:p.?	NC_000001.10:g.19228955C>T	VUS	1 lab	5512f2de91
X:27998940 DCAF8L1 C>T	X	27998940	27998940	C	T	DCAF8L1	c.512G>A	NM_001017930.2	NP_001017930.1:p.(Arg171His)	NC_000023.10:g.27998940C>T	(Likely) benign	1 lab	5513999451
4:126237864 FAT4 A>G	4	126237864	126237864	A	G	FAT4	c.298A>G	NM_001291303.3	NP_001278232.1:p.(Ser100Gly)	NC_000004.11:g.126237864A>G	(Likely) benign	1 lab	5515747a22
6:21595603 SOX4 G>A	6	21595603	21595603	G	A	SOX4	c.838G>A	NM_003107.3	NP_003098.1:p.(Ala280Thr)	NC_000006.11:g.21595603G>A	(Likely) benign	1 lab	5515d2a71c
4:109780859 COL25A1 C>T	4	109780859	109780859	C	T	COL25A1	c.1273G>A	NM_198721.4	NP_942014.1:p.(Ala425Thr)	NC_000004.11:g.109780859C>T	VUS	1 lab	55171d7207
17:63010408 GNA13 C>T	17	63010408	63010408	C	T	GNA13	c.1101G>A	NM_006572.6	NP_006563.2:p.(Leu367=)	NC_000017.10:g.63010408C>T	(Likely) benign	1 lab	212190f286
10:43615050 RET G>A	10	43615050	43615050	G	A	RET	c.2464G>A	NM_020975.6	NP_066124.1:p.(Val822Met)	NC_000010.10:g.43615050G>A	VUS	1 lab	55185d5a7e
17:8792013 PIK3R5 G>A	17	8792013	8792013	G	A	PIK3R5	c.1091C>T	NM_001142633.3	NP_001136105.1:p.(Ser364Phe)	NC_000017.10:g.8792013G>A	VUS	1 lab	5519b29100
19:7143108 INSR C>T	19	7143108	7143108	C	T	INSR	c.2268-7G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7143108C>T	(Likely) benign	1 lab	5519fe707c
16:89351971 ANKRD11 G>C	16	89351971	89351971	G	C	ANKRD11	c.979C>G	NM_013275.6	NP_037407.4:p.(Leu327Val)	NC_000016.9:g.89351971G>C	VUS	1 lab	551bba5852
19:18249866 MAST3 G>A	19	18249866	18249866	G	A	MAST3	c.2137G>A	NM_001393504.1	NP_001380433.1:p.(Glu713Lys)	NC_000019.9:g.18249866G>A	VUS	1 lab	551deba479
5:124079952 ZNF608 CCATTGCTCTT>C	5	124079952	124079962	CCATTGCTCTT	C	ZNF608	c.721_730del	NM_020747.3	NP_065798.2:p.(Lys241GlufsTer39)	NC_000005.9:g.124079953_124079962del	VUS	1 lab	5522eb096c
2:167141147 SCN9A C>T	2	167141147	167141147	C	T	SCN9A	c.1790G>A	NM_001365536.1	NP_001352465.1:p.(Arg597Gln)	NC_000002.11:g.167141147C>T	VUS	1 lab	552305a331
7:48317667 ABCA13 G>GTATATATA	7	48317667	48317684	G	GTATATATA	ABCA13	c.6900-14_6900-7dup	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48317677_48317684dup	(Likely) benign	1 lab	55235fd5e9
16:360015 AXIN1 C>G	16	360015	360015	C	G	AXIN1	c.1074G>C	NM_003502.4	NP_003493.1:p.(Glu358Asp)	NC_000016.9:g.360015C>G	VUS	1 lab	55243bbf2d
15:100821559 ADAMTS17 G>A	15	100821559	100821559	G	A	ADAMTS17	c.664C>T	NM_139057.4	NP_620688.2:p.(Arg222Trp)	NC_000015.9:g.100821559G>A	VUS	1 lab	552682b699
8:145007005 PLEC T>C	8	145007005	145007005	T	C	PLEC	c.1693A>G	NM_201384.3	NP_958786.1:p.(Ile565Val)	NC_000008.10:g.145007005T>C	(Likely) benign	1 lab	5526b42511
4:3215835 HTT TAC>CAG	4	3215835	3215837	TAC	CAG	HTT	c.6925_6927delinsCAG	NM_001388492.1	NP_001375421.1:p.(Tyr2309Gln)	NC_000004.11:g.3215835_3215837delinsCAG	VUS	1 lab	5527436c29
2:233407579 CHRNG T>TGCCTGCCC	2	233407579	233407589	T	TGCCTGCCC	CHRNG	c.605-10_605-3dup	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233407582_233407589dup	(Likely) benign	1 lab	5527849015
4:103806451 CISD2 C>T	4	103806451	103806451	C	T	CISD2	c.182C>T	NM_001008388.5	NP_001008389.1:p.(Pro61Leu)	NC_000004.11:g.103806451C>T	VUS	1 lab	5528e5806f
21:46897701 COL18A1 C>T	21	46897701	46897701	C	T	COL18A1	c.1043C>T	NM_001379500.1	NP_001366429.1:p.(Pro348Leu)	NC_000021.8:g.46897701C>T	(Likely) benign	1 lab	552956b94e
4:5755517 EVC G>A	4	5755517	5755517	G	A	EVC	c.1321G>A	NM_153717.3	NP_714928.1:p.(Val441Ile)	NC_000004.11:g.5755517G>A	(Likely) benign	1 lab	552acb614d
16:30975493 SETD1A G>A	16	30975493	30975493	G	A	SETD1A	c.718G>A	NM_014712.3	NP_055527.1:p.(Gly240Ser)	NC_000016.9:g.30975493G>A	(Likely) benign	1 lab	552b0e6482
X:54011511 PHF8 C>G	X	54011511	54011511	C	G	PHF8	c.2279G>C	NM_015107.3	NP_055922.1:p.(Ser760Thr)	NC_000023.10:g.54011511C>G	VUS	1 lab	552b618570
11:17450102 ABCC8 G>A	11	17450102	17450102	G	A	ABCC8	c.1923+10C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17450102G>A	(Likely) benign	1 lab	552d25cd7b
12:50498405 GPD1 A>ATTTGTCTACCCAATAAAGCGTGTTTTTTC	12	50498405	50498406	A	ATTTGTCTACCCAATAAAGCGTGTTTTTTC	GPD1	c.90_91insTTTGTCTACCCAATAAAGCGTGTTTTTTC	NM_005276.4	NP_005267.2:p.(Gln31PhefsTer16)	NC_000012.11:g.50498405_50498406insTTTGTCTACCCAATAAAGCGTGTTTTTTC	VUS	1 lab	552d37d45b
14:96773160 ATG2B C>A	14	96773160	96773160	C	A	ATG2B	c.4397G>T	NM_018036.7	NP_060506.6:p.(Gly1466Val)	NC_000014.8:g.96773160C>A	(Likely) benign	1 lab	552d41a22b
7:116417464 MET A>G	7	116417464	116417464	A	G	MET	c.3335A>G	NM_001127500.1	NP_001120972.1:p.(His1112Arg)	NC_000007.13:g.116417464A>G	(Likely) pathogenic	1 lab	2122867e9a
X:118222398 KIAA1210 A>T	X	118222398	118222398	A	T	KIAA1210	c.2267T>A	NM_001394962.1	NP_001381891.1:p.(Val756Glu)	NC_000023.10:g.118222398A>T	(Likely) benign	1 lab	552e1f9228
3:181431100 SOX2 T>C	3	181431100	181431100	T	C	SOX2	c.952T>C	NM_003106.4	NP_003097.1:p.(Ter318ArgextTer27)	NC_000003.11:g.181431100T>C	VUS	1 lab	552e561809
12:122247773 SETD1B T>C	12	122247773	122247773	T	C	SETD1B	c.922T>C	NM_001353345.2	NP_001340274.1:p.(Phe308Leu)	NC_000012.11:g.122247773T>C	(Likely) benign	1 lab	5530199256
10:79767524 POLR3A G>C	10	79767524	79767524	G	C	POLR3A	c.2010C>G	NM_007055.4	NP_008986.2:p.(Asp670Glu)	NC_000010.10:g.79767524G>C	(Likely) pathogenic	1 lab	212421f95d
12:124270360 DNAH10 G>A	12	124270360	124270360	G	A	DNAH10	c.1298G>A	NM_001372106.1	NP_001359035.1:p.(Arg433Gln)	NC_000012.11:g.124270360G>A	VUS	1 lab	5531a59d3a
X:153200861 RENBP C>T	X	153200861	153200861	C	T	RENBP	c.1166-4G>A	NM_002910.6	NP_002901.2:p.?	NC_000023.10:g.153200861C>T	VUS	1 lab	55328dbbeb
8:134050899 SLA G>A	8	134050899	134050899	G	A	SLA	c.701C>T	NM_001045556.3	NP_001039021.1:p.(Ala234Val)	NC_000008.10:g.134050899G>A	VUS	1 lab	55334811bf
4:6303220 WFS1 C>T	4	6303220	6303220	C	T	WFS1	c.1698C>T	NM_006005.3	NP_005996.2:p.(Phe566=)	NC_000004.11:g.6303220C>T	(Likely) benign	1 lab	553409e2b1
16:1524855 CLCN7 C>G	16	1524855	1524855	C	G	CLCN7	c.121G>C	NM_001287.6	NP_001278.1:p.(Gly41Arg)	NC_000016.9:g.1524855C>G	(Likely) benign	1 lab	553744a70a
9:140082356 ANAPC2 T>C	9	140082356	140082356	T	C	ANAPC2	c.317A>G	NM_013366.4	NP_037498.1:p.(Gln106Arg)	NC_000009.11:g.140082356T>C	(Likely) benign	1 lab	553d153b60
8:144873475 SCRIB G>A	8	144873475	144873475	G	A	SCRIB	c.4826C>T	NM_182706.5	NP_874365.3:p.(Pro1609Leu)	NC_000008.10:g.144873475G>A	(Likely) benign	1 lab	553d1f1e46
11:124967615 TMEM218 C>T	11	124967615	124967615	C	T	TMEM218	c.235G>A	NM_001258244.2	NP_001245173.1:p.(Gly79Ser)	NC_000011.9:g.124967615C>T	(Likely) benign	1 lab	553e5e1bda
1:27874713 AHDC1 A>G	1	27874713	27874713	A	G	AHDC1	c.3914T>C	NM_001029882.3	NP_001025053.1:p.(Leu1305Pro)	NC_000001.10:g.27874713A>G	VUS	1 lab	2060154aca
1:184688620 EDEM3 C>T	1	184688620	184688620	C	T	EDEM3	c.1034G>A	NM_025191.4	NP_079467.3:p.(Arg345Gln)	NC_000001.10:g.184688620C>T	VUS	1 lab	553ffbe8a0
2:166621522 GALNT3 G>T	2	166621522	166621522	G	T	GALNT3	c.560C>A	NM_004482.4	NP_004473.2:p.(Thr187Asn)	NC_000002.11:g.166621522G>T	VUS	1 lab	5541ca6b34
2:232790162 NPPC G>T	2	232790162	232790162	G	T	NPPC	c.354C>A	NM_024409.4	NP_077720.1:p.(Ile118=)	NC_000002.11:g.232790162G>T	(Likely) benign	1 lab	554278bcac
X:8766400 FAM9A C>G	X	8766400	8766400	C	G	FAM9A	c.341G>C	NM_174951.3	NP_777611.1:p.(Gly114Ala)	NC_000023.10:g.8766400C>G	(Likely) benign	1 lab	55427f5b28
5:138378384 SIL1 G>T	5	138378384	138378384	G	T	SIL1	c.378C>A	NM_022464.5	NP_071909.1:p.(Tyr126Ter)	NC_000005.9:g.138378384G>T	VUS	1 lab	55428693c0
10:71697471 COL13A1 C>T	10	71697471	71697471	C	T	COL13A1	c.1878C>T	NM_001368882.1	NP_001355811.1:p.(Pro626=)	NC_000010.10:g.71697471C>T	(Likely) benign	1 lab	554328425f
7:75610480 POR G>A	7	75610480	75610480	G	A	POR	c.631G>A	NM_000941.3	NP_000932.3:p.(Asp211Asn)	NC_000007.13:g.75610480G>A	VUS	1 lab	5543c3d63d
20:60886316 LAMA5 C>A	20	60886316	60886316	C	A	LAMA5	c.9990G>T	NM_005560.6	NP_005551.3:p.(Leu3330=)	NC_000020.10:g.60886316C>A	VUS	1 lab	55445bf8bc
1:22200473 HSPG2 C>T	1	22200473	22200473	C	T	HSPG2	c.3688G>A	NM_005529.7	NP_005520.4:p.(Gly1230Ser)	NC_000001.10:g.22200473C>T	(Likely) benign	1 lab	5544972683
17:42942382 EFTUD2 T>G	17	42942382	42942382	T	G	EFTUD2	c.1201A>C	NM_004247.4	NP_004238.3:p.(Ile401Leu)	NC_000017.10:g.42942382T>G	VUS	1 lab	5544b38c71
16:2164825 PKD1 G>C	16	2164825	2164825	G	C	PKD1	c.2199C>G	NM_001009944.3	NP_001009944.3:p.(Pro733=)	NC_000016.9:g.2164825G>C	(Likely) benign	1 lab	55456adcd6
11:118339545 KMT2A C>G	11	118339545	118339545	C	G	KMT2A	c.488C>G	NM_001197104.2	NP_001184033.1:p.(Thr163Arg)	NC_000011.9:g.118339545C>G	(Likely) benign	1 lab	554781273b
20:32255820 ACTL10 C>G	20	32255820	32255820	C	G	ACTL10	c.517C>G	NM_001024675.2	NP_001019846.1:p.(Pro173Ala)	NC_000020.10:g.32255820C>G	VUS	1 lab	5549692f6a
22:30069476 NF2 G>A	22	30069476	30069476	G	A	NF2	c.1340+1G>A	NM_181832.3	NP_861970.1:p.?	NC_000022.10:g.30069476G>A	(Likely) pathogenic	1 lab	206017a7a2
9:138676649 KCNT1 C>T	9	138676649	138676649	C	T	KCNT1	c.3070C>T	NM_020822.2	NP_065873.2:p.(Arg1024Cys)	NC_000009.11:g.138676649C>T	(Likely) pathogenic	1 lab	2128ca2081
15:38643732 SPRED1 G>T	15	38643732	38643732	G	T	SPRED1	c.1202G>T	NM_152594.3	NP_689807.1:p.(Cys401Phe)	NC_000015.9:g.38643732G>T	(Likely) benign	1 lab	554c1c3fa2
6:29589579 GABBR1 T>C	6	29589579	29589579	T	C	GABBR1	c.1081A>G	NM_001470.4	NP_001461.1:p.(Ile361Val)	NC_000006.11:g.29589579T>C	VUS	1 lab	554c3bf431
16:89629344 RPL13 A>G	16	89629344	89629344	A	G	RPL13	c.530A>G	NM_000977.4	NP_000968.2:p.(Lys177Arg)	NC_000016.9:g.89629344A>G	VUS	1 lab	554ce08cc2
4:103822493 SLC9B1 C>T	4	103822493	103822493	C	T	SLC9B1	c.1333-4G>A	NM_139173.4	NP_631912.3:p.?	NC_000004.11:g.103822493C>T	(Likely) benign	1 lab	554dff08d7
18:19762962 GATA6 C>T	18	19762962	19762962	C	T	GATA6	c.1578C>T	NM_005257.6	NP_005248.2:p.(Cys526=)	NC_000018.9:g.19762962C>T	(Likely) benign	1 lab	554ee2496e
5:13719077 DNAH5 A>C	5	13719077	13719077	A	C	DNAH5	c.12413T>G	NM_001369.3	NP_001360.1:p.(Phe4138Cys)	NC_000005.9:g.13719077A>C	VUS	1 lab	554f678d7c
2:63101587 EHBP1 C>G	2	63101587	63101587	C	G	EHBP1	c.1105C>G	NM_001142616.3	NP_001136088.1:p.(Pro369Ala)	NC_000002.11:g.63101587C>G	(Likely) benign	1 lab	554ff04d71
X:70832741 GCNA C>T	X	70832741	70832741	C	T	GCNA	c.1985C>T	NM_052957.5	NP_443189.1:p.(Thr662Ile)	NC_000023.10:g.70832741C>T	(Likely) benign	1 lab	555075fc46
16:84121068 MBTPS1 A>G	16	84121068	84121068	A	G	MBTPS1	c.1032-3T>C	NM_003791.4	NP_003782.1:p.?	NC_000016.9:g.84121068A>G	(Likely) benign	1 lab	5550da7523
15:40991036 RAD51 G>A	15	40991036	40991036	G	A	RAD51	c.80G>A	NM_002875.5	NP_002866.2:p.(Arg27Gln)	NC_000015.9:g.40991036G>A	(Likely) benign	1 lab	555303b785
9:135983739 RALGDS GTTAGAGCTAGCTCGAGCTCTGGAGTTGGTT>G	9	135983739	135983777	GTTAGAGCTAGCTCGAGCTCTGGAGTTGGTT	G	RALGDS	c.803_832del	NM_006266.4	NP_006257.1:p.(Lys268_Leu277del)	NC_000009.11:g.135983748_135983777del	VUS	1 lab	555347c50a
13:113530175 ATP11A G>C	13	113530175	113530175	G	C	ATP11A	c.3247G>C	NM_015205.3	NP_056020.2:p.(Val1083Leu)	NC_000013.10:g.113530175G>C	VUS	1 lab	5554a81fad
5:140905894 DIAPH1 C>G	5	140905894	140905894	C	G	DIAPH1	c.3408G>C	NM_005219.5	NP_005210.3:p.(Met1136Ile)	NC_000005.9:g.140905894C>G	(Likely) benign	1 lab	5556d82565
17:15967457 NCOR1 G>A	17	15967457	15967457	G	A	NCOR1	c.5146C>T	NM_006311.4	NP_006302.2:p.(Arg1716Trp)	NC_000017.10:g.15967457G>A	VUS	1 lab	5557bf41f0
9:73736108 TRPM3 CAGAT>C	9	73736108	73736112	CAGAT	C	TRPM3	c.159_162del	NM_001366145.2	NP_001353074.1:p.(Val55AspfsTer3)	NC_000009.11:g.73736109_73736112del	VUS	1 lab	55581434e7
1:8421145 RERE G>T	1	8421145	8421145	G	T	RERE	c.2422C>A	NM_001042681.2	NP_001036146.1:p.(Pro808Thr)	NC_000001.10:g.8421145G>T	(Likely) benign	1 lab	555a15239d
17:65914924 BPTF G>T	17	65914924	65914924	G	T	BPTF	c.5398G>T	NM_182641.4	NP_872579.2:p.(Ala1800Ser)	NC_000017.10:g.65914924G>T	VUS	1 lab	555b10c207
3:136019928 PCCB A>G	3	136019928	136019928	A	G	PCCB	c.941A>G	NM_000532.5	NP_000523.2:p.(Tyr314Cys)	NC_000003.11:g.136019928A>G	VUS	1 lab	555b120ffa
8:19362884 CSGALNACT1 CT>C	8	19362884	19362885	CT	C	CSGALNACT1	c.461del	NM_001354483.2	NP_001341412.1:p.(Gln154ArgfsTer19)	NC_000008.10:g.19362885del	VUS	1 lab	555bbad545
2:170027069 LRP2 C>T	2	170027069	170027069	C	T	LRP2	c.11372G>A	NM_004525.3	NP_004516.2:p.(Arg3791Gln)	NC_000002.11:g.170027069C>T	VUS	1 lab	555bc6d55e
7:150761281 SLC4A2 C>T	7	150761281	150761281	C	T	SLC4A2	c.52-8C>T	NM_003040.4	NP_003031.3:p.?	NC_000007.13:g.150761281C>T	(Likely) benign	1 lab	555cb1233e
X:39922924 BCOR C>A	X	39922924	39922924	C	A	BCOR	c.3784G>T	NM_001123385.2	NP_001116857.1:p.(Ala1262Ser)	NC_000023.10:g.39922924C>A	VUS	1 lab	556412e023
3:119134032 ARHGAP31 G>A	3	119134032	119134032	G	A	ARHGAP31	c.3256G>A	NM_020754.4	NP_065805.2:p.(Ala1086Thr)	NC_000003.11:g.119134032G>A	(Likely) benign	1 lab	556424ad28
16:20348036 UMOD G>A	16	20348036	20348036	G	A	UMOD	c.1754C>T	NM_003361.3	NP_003352.2:p.(Thr585Ile)	NC_000016.9:g.20348036G>A	(Likely) benign	1 lab	212ad3e050
4:119689456 SEC24D T>C	4	119689456	119689456	T	C	SEC24D	c.1052A>G	NM_014822.4	NP_055637.2:p.(Tyr351Cys)	NC_000004.11:g.119689456T>C	VUS	1 lab	5564938d8e
7:44184774 GCK C>A	7	44184774	44184774	C	A	GCK	c.1359G>T	NM_000162.5	NP_000153.1:p.(Ser453=)	NC_000007.13:g.44184774C>A	(Likely) benign	1 lab	5564b16368
21:44478929 CBS G>T	21	44478929	44478929	G	T	CBS	c.1358+15C>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44478929G>T	(Likely) benign	1 lab	5564c0f437
9:131370209 SPTAN1 G>A	9	131370209	131370209	G	A	SPTAN1	c.4225G>A	NM_001130438.3	NP_001123910.1:p.(Gly1409Arg)	NC_000009.11:g.131370209G>A	VUS	1 lab	5564f9b2e7
17:65899926 BPTF T>G	17	65899926	65899926	T	G	BPTF	c.2565T>G	NM_182641.4	NP_872579.2:p.(Ile855Met)	NC_000017.10:g.65899926T>G	(Likely) benign	1 lab	5565525197
16:11518163 MISSING G>A	16	11518163	11518163	G	A	MISSING				NC_000016.9:g.11518163G>A	VUS	1 lab	55668941fc
19:14046575 PODNL1 C>A	19	14046575	14046575	C	A	PODNL1	c.453G>T	NM_001370095.3	NP_001357024.2:p.(Met151Ile)	NC_000019.9:g.14046575C>A	VUS	1 lab	556948a582
14:91805814 CCDC88C C>T	14	91805814	91805814	C	T	CCDC88C	c.625-8G>A	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91805814C>T	(Likely) benign	1 lab	556a8feeb8
2:152522933 NEB G>A	2	152522933	152522933	G	A	NEB	c.4720-18C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152522933G>A	(Likely) benign	1 lab	556da7b782
4:186068079 SLC25A4 G>A	4	186068079	186068079	G	A	SLC25A4	c.851G>A	NM_001151.4	NP_001142.2:p.(Gly284Asp)	NC_000004.11:g.186068079G>A	VUS	1 lab	556e4d430a
17:40767013 TUBG1 C>T	17	40767013	40767013	C	T	TUBG1	c.1310C>T	NM_001070.5	NP_001061.2:p.(Ala437Val)	NC_000017.10:g.40767013C>T	(Likely) benign	1 lab	5571e80610
12:115110035 TBX3 A>C	12	115110035	115110035	A	C	TBX3	c.1783T>G	NM_005996.4	NP_005987.3:p.(Ser595Ala)	NC_000012.11:g.115110035A>C	(Likely) benign	1 lab	557215817a
16:1574783 IFT140 A>G	16	1574783	1574783	A	G	IFT140	c.2997+2T>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1574783A>G	VUS	1 lab	5572d68f00
21:45757526 CFAP410 A>T	21	45757526	45757526	A	T	CFAP410	c.96+6T>A	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45757526A>T	VUS	1 lab	55769d82c7
17:14110261 COX10 C>T	17	14110261	14110261	C	T	COX10	c.1063C>T	NM_001303.4	NP_001294.2:p.(Arg355Cys)	NC_000017.10:g.14110261C>T	VUS	1 lab	5578075609
2:74688544 MOGS A>G	2	74688544	74688544	A	G	MOGS	c.2372T>C	NM_006302.3	NP_006293.2:p.(Val791Ala)	NC_000002.11:g.74688544A>G	(Likely) benign	1 lab	5578d5b94f
2:25991632 ASXL2 C>A	2	25991632	25991632	C	A	ASXL2	c.610G>T	NM_018263.6	NP_060733.4:p.(Asp204Tyr)	NC_000002.11:g.25991632C>A	VUS	1 lab	557d81e943
17:48435649 XYLT2 G>T	17	48435649	48435649	G	T	XYLT2	c.2023G>T	NM_022167.4	NP_071450.2:p.(Val675Leu)	NC_000017.10:g.48435649G>T	(Likely) benign	1 lab	557d915120
1:154557808 ADAR T>C	1	154557808	154557808	T	C	ADAR	c.3328A>G	NM_001111.5	NP_001102.3:p.(Ser1110Gly)	NC_000001.10:g.154557808T>C	VUS	1 lab	557f399942
X:70349160 MED12 C>T	X	70349160	70349160	C	T	MED12	c.3578-6C>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70349160C>T	(Likely) benign	1 lab	557f3e3ef9
11:824794 PNPLA2 G>C	11	824794	824794	G	C	PNPLA2	c.1447G>C	NM_020376.4	NP_065109.1:p.(Gly483Arg)	NC_000011.9:g.824794G>C	(Likely) benign	1 lab	557fd5ae53
11:532661 HRAS A>G	11	532661	532661	A	G	HRAS	c.545T>C	NM_005343.4	NP_005334.1:p.(Met182Thr)	NC_000011.9:g.532661A>G	(Likely) benign	1 lab	5582076913
6:85473733 TBX18 C>T	6	85473733	85473733	C	T	TBX18	c.167G>A	NM_001080508.3	NP_001073977.1:p.(Ser56Asn)	NC_000006.11:g.85473733C>T	VUS	1 lab	55822452e7
22:51159652 SHANK3 G>C	22	51159652	51159652	G	C	SHANK3	c.3616G>C	NM_001372044.2	NP_001358973.1:p.(Val1206Leu)	NC_000022.10:g.51159652G>C	(Likely) benign	1 lab	5582bdc793
16:58577328 CNOT1 AC>A	16	58577328	58577329	AC	A	CNOT1	c.4434+182del	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58577329del	(Likely) benign	1 lab	5582c6b095
5:10981934 CTNND2 A>G	5	10981934	10981934	A	G	CTNND2	c.3368T>C	NM_001332.4	NP_001323.1:p.(Leu1123Ser)	NC_000005.9:g.10981934A>G	(Likely) benign	1 lab	55845a5497
4:88537288 DSPP C>T	4	88537288	88537288	C	T	DSPP	c.3474C>T	NM_014208.3	NP_055023.2:p.(Asp1158=)	NC_000004.11:g.88537288C>T	(Likely) benign	1 lab	5584c06641
1:147094305 BCL9 A>G	1	147094305	147094305	A	G	BCL9	c.3136A>G	NM_004326.4	NP_004317.2:p.(Asn1046Asp)	NC_000001.10:g.147094305A>G	VUS	1 lab	5584ccab3c
20:61041617 GATA5 C>T	20	61041617	61041617	C	T	GATA5	c.700-10G>A	NM_080473.5	NP_536721.1:p.?	NC_000020.10:g.61041617C>T	(Likely) benign	1 lab	5587fed473
8:144998718 PLEC G>A	8	144998718	144998718	G	A	PLEC	c.5379C>T	NM_201384.3	NP_958786.1:p.(Ala1793=)	NC_000008.10:g.144998718G>A	VUS	1 lab	5588cbf7e3
11:89224348 NOX4 G>A	11	89224348	89224348	G	A	NOX4	c.57+10C>T	NM_016931.5	NP_058627.2:p.?	NC_000011.9:g.89224348G>A	VUS	1 lab	558a4739d7
18:45396940 SMAD2 G>A	18	45396940	45396940	G	A	SMAD2	c.237-5C>T	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45396940G>A	(Likely) benign	1 lab	558b715966
2:220078186 ABCB6 A>G	2	220078186	220078186	A	G	ABCB6	c.1694T>C	NM_005689.4	NP_005680.1:p.(Phe565Ser)	NC_000002.11:g.220078186A>G	(Likely) benign	1 lab	558e2b56ac
6:152529198 SYNE1 C>A	6	152529198	152529198	C	A	SYNE1	c.22733G>T	NM_182961.4	NP_892006.3:p.(Trp7578Leu)	NC_000006.11:g.152529198C>A	VUS	1 lab	55904b6039
8:22051640 BMP1 G>T	8	22051640	22051640	G	T	BMP1	c.1250G>T	NM_006129.5	NP_006120.1:p.(Arg417Leu)	NC_000008.10:g.22051640G>T	VUS	1 lab	55908530a0
15:91553071 VPS33B A>G	15	91553071	91553071	A	G	VPS33B	c.363T>C	NM_018668.4	NP_061138.3:p.(Tyr121=)	NC_000015.9:g.91553071A>G	(Likely) benign	1 lab	212b9f10f8
12:56817433 TIMELESS T>TTCC	12	56817433	56817450	T	TTCC	TIMELESS	c.2022_2024dup	NM_003920.5	NP_003911.2:p.(Glu678dup)	NC_000012.11:g.56817448_56817450dup	VUS	1 lab	559399d916
9:27284815 EQTN C>T	9	27284815	27284815	C	T	EQTN	c.791G>A	NM_020641.3	NP_065692.2:p.(Gly264Asp)	NC_000009.11:g.27284815C>T	(Likely) benign	1 lab	5593a4436b
7:107572630 LAMB1 G>A	7	107572630	107572630	G	A	LAMB1	c.4381C>T	NM_002291.3	NP_002282.2:p.(Leu1461Phe)	NC_000007.13:g.107572630G>A	VUS	1 lab	55941e19c8
20:23425419 CSTL1 C>T	20	23425419	23425419	C	T	CSTL1	c.342C>T	NM_138283.1	NP_612140.1:p.(Cys114=)	NC_000020.10:g.23425419C>T	(Likely) benign	1 lab	5595e15ec0
7:94039078 COL1A2 G>A	7	94039078	94039078	G	A	COL1A2	c.980G>A	NM_000089.4	NP_000080.2:p.(Arg327His)	NC_000007.13:g.94039078G>A	VUS	1 lab	55976364a2
10:102749139 TWNK G>A	10	102749139	102749139	G	A	TWNK	c.1172G>A	NM_021830.5	NP_068602.2:p.(Arg391His)	NC_000010.10:g.102749139G>A	(Likely) pathogenic	1 lab	212d7f7a73
X:114426427 RBMXL3 G>A	X	114426427	114426427	G	A	RBMXL3	c.2423G>A	NM_001145346.2	NP_001138818.1:p.(Arg808Gln)	NC_000023.10:g.114426427G>A	VUS	1 lab	5598896f13
5:172752907 STC2 C>A	5	172752907	172752907	C	A	STC2	c.258G>T	NM_003714.3	NP_003705.1:p.(Met86Ile)	NC_000005.9:g.172752907C>A	VUS	1 lab	5598b8cc32
X:2876443 ARSL G>A	X	2876443	2876443	G	A	ARSL	c.57C>T	NM_000047.3	NP_000038.2:p.(Leu19=)	NC_000023.10:g.2876443G>A	(Likely) benign	1 lab	5599490f63
18:13885063 MC2R G>C	18	13885063	13885063	G	C	MC2R	c.455C>G	NM_000529.2	NP_000520.1:p.(Thr152Arg)	NC_000018.9:g.13885063G>C	(Likely) benign	1 lab	559aa50ca1
14:74417180 COQ6 G>A	14	74417180	74417180	G	A	COQ6	c.145G>A	NM_182476.3	NP_872282.1:p.(Ala49Thr)	NC_000014.8:g.74417180G>A	VUS	1 lab	559b9dcf67
1:63005305 DOCK7 T>C	1	63005305	63005305	T	C	DOCK7	c.3211A>G	NM_001367561.1	NP_001354490.1:p.(Asn1071Asp)	NC_000001.10:g.63005305T>C	VUS	1 lab	559bbe59bc
16:27772821 KATNIP C>T	16	27772821	27772821	C	T	KATNIP	c.3719C>T	NM_015202.5	NP_056017.4:p.(Ala1240Val)	NC_000016.9:g.27772821C>T	(Likely) benign	1 lab	559c7d60b0
21:43816048 TMPRSS3 C>A	21	43816048	43816048	C	A	TMPRSS3	c.-52+3G>T	NM_001256317.3	NP_001243246.1:p.?	NC_000021.8:g.43816048C>A	VUS	1 lab	559d0b0045
6:93955177 EPHA7 T>A	6	93955177	93955177	T	A	EPHA7	c.2727-6A>T	NM_004440.4	NP_004431.1:p.?	NC_000006.11:g.93955177T>A	(Likely) benign	1 lab	559d7cc61d
22:50968109 TYMP C>T	22	50968109	50968109	C	T	TYMP	c.30G>A	NM_001953.5	NP_001944.1:p.(Gly10=)	NC_000022.10:g.50968109C>T	(Likely) benign	1 lab	55a016f691
19:5696341 LONP1 C>T	19	5696341	5696341	C	T	LONP1	c.1815G>A	NM_004793.4	NP_004784.2:p.(Ser605=)	NC_000019.9:g.5696341C>T	(Likely) benign	1 lab	55a0fdf091
17:60112877 MED13 A>G	17	60112877	60112877	A	G	MED13	c.563T>C	NM_005121.3	NP_005112.2:p.(Leu188Pro)	NC_000017.10:g.60112877A>G	(Likely) benign	1 lab	55a2d3954c
7:4827859 AP5Z1 G>A	7	4827859	4827859	G	A	AP5Z1	c.1529G>A	NM_014855.3	NP_055670.1:p.(Arg510Gln)	NC_000007.13:g.4827859G>A	(Likely) benign	1 lab	55a489c610
4:126369970 FAT4 C>T	4	126369970	126369970	C	T	FAT4	c.7805C>T	NM_001291303.3	NP_001278232.1:p.(Ser2602Leu)	NC_000004.11:g.126369970C>T	VUS	1 lab	55a4a66448
13:28498716 PDX1 C>G	13	28498716	28498716	C	G	PDX1	c.730C>G	NM_000209.4	NP_000200.1:p.(Pro244Ala)	NC_000013.10:g.28498716C>G	(Likely) benign	1 lab	55a4e541a1
12:56092319 ITGA7 C>T	12	56092319	56092319	C	T	ITGA7	c.1040G>A	NM_002206.3	NP_002197.2:p.(Arg347His)	NC_000012.11:g.56092319C>T	VUS	1 lab	55a4ef1d8e
14:23549549 ACIN1 G>C	14	23549549	23549549	G	C	ACIN1	c.995C>G	NM_001386863.1	NP_001373792.1:p.(Pro332Arg)	NC_000014.8:g.23549549G>C	VUS	1 lab	55a69a3069
12:110944441 RAD9B A>C	12	110944441	110944441	A	C	RAD9B	c.331A>C	NM_001286535.2	NP_001273464.1:p.(Arg111=)	NC_000012.11:g.110944441A>C	(Likely) benign	1 lab	55a79da5ec
20:32878358 AHCY G>A	20	32878358	32878358	G	A	AHCY	c.853C>T	NM_000687.4	NP_000678.1:p.(Arg285Trp)	NC_000020.10:g.32878358G>A	(Likely) benign	1 lab	55a8077393
16:71209539 HYDIN G>A	16	71209539	71209539	G	A	HYDIN	c.487C>T	NM_001270974.2	NP_001257903.1:p.(Arg163Ter)	NC_000016.9:g.71209539G>A	(Likely) pathogenic	1 lab	55ab66f35c
16:30722105 SRCAP C>A	16	30722105	30722105	C	A	SRCAP	c.1165C>A	NM_006662.2	NP_006653.2:p.(Arg389Ser)	NC_000016.9:g.30722105C>A	(Likely) benign	1 lab	212e1b5b43
16:88803062 PIEZO1 C>T	16	88803062	88803062	C	T	PIEZO1	c.1281G>A	NM_001142864.4	NP_001136336.2:p.(Ala427=)	NC_000016.9:g.88803062C>T	(Likely) benign	1 lab	55adba2bba
10:131666038 EBF3 G>A	10	131666038	131666038	G	A	EBF3	c.912+8C>T	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131666038G>A	(Likely) benign	1 lab	55adfab067
12:121416902 HNF1A G>GGAGCC	12	121416902	121416907	G	GGAGCC	HNF1A	c.326+6_326+10dup	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121416903_121416907dup	(Likely) benign	1 lab	55ae2610d5
14:50628203 SOS2 G>A	14	50628203	50628203	G	A	SOS2	c.1193C>T	NM_006939.4	NP_008870.2:p.(Pro398Leu)	NC_000014.8:g.50628203G>A	VUS	1 lab	56ef385054
3:52326362 GLYCTK G>T	3	52326362	52326362	G	T	GLYCTK	c.792G>T	NM_145262.4	NP_660305.2:p.(Val264=)	NC_000003.11:g.52326362G>T	(Likely) benign	1 lab	55ae50a5ab
6:15501390 JARID2 G>T	6	15501390	15501390	G	T	JARID2	c.2198G>T	NM_004973.4	NP_004964.2:p.(Arg733Leu)	NC_000006.11:g.15501390G>T	(Likely) benign	1 lab	55b14d8369
2:175613317 CHRNA1 C>A	2	175613317	175613317	C	A	CHRNA1	c.1233G>T	NM_000079.4	NP_000070.1:p.(Glu411Asp)	NC_000002.11:g.175613317C>A	(Likely) benign	1 lab	55b2128ae0
8:110492337 PKHD1L1 T>C	8	110492337	110492337	T	C	PKHD1L1	c.9296T>C	NM_177531.6	NP_803875.2:p.(Val3099Ala)	NC_000008.10:g.110492337T>C	VUS	1 lab	55b3c3429d
8:21978591 HR G>A	8	21978591	21978591	G	A	HR	c.2354C>T	NM_005144.5	NP_005135.2:p.(Pro785Leu)	NC_000008.10:g.21978591G>A	VUS	1 lab	5624c5ff41
8:61654411 CHD7 C>G	8	61654411	61654411	C	G	CHD7	c.420C>G	NM_017780.4	NP_060250.2:p.(Asp140Glu)	NC_000008.10:g.61654411C>G	(Likely) benign	1 lab	55b4aa67bf
15:99500546 IGF1R A>G	15	99500546	99500546	A	G	IGF1R	c.3979A>G	NM_000875.5	NP_000866.1:p.(Asn1327Asp)	NC_000015.9:g.99500546A>G	(Likely) benign	1 lab	55b5d8b61d
7:31010743 GHRHR T>C	7	31010743	31010743	T	C	GHRHR	c.376T>C	NM_000823.4	NP_000814.2:p.(Phe126Leu)	NC_000007.13:g.31010743T>C	VUS	1 lab	55b5dd0df2
15:99454687 IGF1R G>A	15	99454687	99454687	G	A	IGF1R	c.1589+17G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99454687G>A	(Likely) benign	1 lab	55b6de4374
1:43893914 SZT2 T>C	1	43893914	43893914	T	C	SZT2	c.3923T>C	NM_001365999.1	NP_001352928.1:p.(Leu1308Pro)	NC_000001.10:g.43893914T>C	VUS	1 lab	55b77c7279
X:117526653 WDR44 T>G	X	117526653	117526653	T	G	WDR44	c.245T>G	NM_019045.5	NP_061918.3:p.(Leu82Trp)	NC_000023.10:g.117526653T>G	VUS	1 lab	55b7b4afc4
14:95569922 DICER1 G>A	14	95569922	95569922	G	A	DICER1	c.3811C>T	NM_177438.3	NP_803187.1:p.(Leu1271Phe)	NC_000014.8:g.95569922G>A	(Likely) benign	1 lab	55b95187ce
8:38002807 STAR A>G	8	38002807	38002807	A	G	STAR	c.677T>C	NM_000349.3	NP_000340.2:p.(Val226Ala)	NC_000008.10:g.38002807A>G	VUS	1 lab	55b9627793
1:158596821 SPTA1 A>G	1	158596821	158596821	A	G	SPTA1	c.5665-24T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158596821A>G	(Likely) benign	1 lab	212ea9d72b
22:51133409 SHANK3 C>T	22	51133409	51133409	C	T	SHANK3	c.1462C>T	NM_001372044.2	NP_001358973.1:p.(Arg488Trp)	NC_000022.10:g.51133409C>T	VUS	1 lab	55ba061645
12:19472980 PLEKHA5 G>A	12	19472980	19472980	G	A	PLEKHA5	c.2144G>A	NM_001256470.2	NP_001243399.1:p.(Ser715Asn)	NC_000012.11:g.19472980G>A	(Likely) benign	1 lab	55bb784384
19:11097135 SMARCA4 C>T	19	11097135	11097135	C	T	SMARCA4	c.626C>T	NM_003072.5	NP_003063.2:p.(Pro209Leu)	NC_000019.9:g.11097135C>T	(Likely) benign	1 lab	55bc24a52e
15:41650403 NUSAP1 A>G	15	41650403	41650403	A	G	NUSAP1	c.607A>G	NM_016359.5	NP_057443.2:p.(Ile203Val)	NC_000015.9:g.41650403A>G	(Likely) benign	1 lab	55bc6cbd35
14:105237194 AKT1 T>G	14	105237194	105237194	T	G	AKT1	c.1261-10A>C	NM_001382430.1	NP_001369359.1:p.?	NC_000014.8:g.105237194T>G	VUS	1 lab	55bd1051b1
22:22160235 MAPK1 C>G	22	22160235	22160235	C	G	MAPK1	c.396G>C	NM_002745.5	NP_002736.3:p.(Gln132His)	NC_000022.10:g.22160235C>G	VUS	1 lab	55bfa1a6ff
X:53436377 SMC1A G>A	X	53436377	53436377	G	A	SMC1A	c.1312C>T	NM_006306.4	NP_006297.2:p.(Leu438=)	NC_000023.10:g.53436377G>A	(Likely) benign	1 lab	55c0bbcaf9
2:186666026 FSIP2 T>A	2	186666026	186666026	T	A	FSIP2	c.11993T>A	NM_173651.4	NP_775922.3:p.(Ile3998Asn)	NC_000002.11:g.186666026T>A	VUS	1 lab	55c2d25dda
13:20635374 ZMYM2 A>G	13	20635374	20635374	A	G	ZMYM2	c.2911+10A>G	NM_003453.5	NP_003444.1:p.?	NC_000013.10:g.20635374A>G	(Likely) benign	1 lab	212fd3b5a0
7:144345893 TPK1 A>T	7	144345893	144345893	A	T	TPK1	c.258+7T>A	NM_022445.4	NP_071890.2:p.?	NC_000007.13:g.144345893A>T	(Likely) benign	1 lab	55c61577b8
13:101736163 NALCN G>T	13	101736163	101736163	G	T	NALCN	c.3490-8C>A	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101736163G>T	VUS	1 lab	55c7be164a
1:154321013 ATP8B2 C>G	1	154321013	154321013	C	G	ATP8B2	c.3293C>G	NM_001370597.1	NP_001357526.1:p.(Thr1098Arg)	NC_000001.10:g.154321013C>G	(Likely) benign	1 lab	55c8b833c1
15:89008883 MRPL46 G>A	15	89008883	89008883	G	A	MRPL46	c.350C>T	NM_022163.4	NP_071446.2:p.(Ala117Val)	NC_000015.9:g.89008883G>A	(Likely) benign	1 lab	55c93d2046
17:61557841 ACE G>A	17	61557841	61557841	G	A	ACE	c.799G>A	NM_000789.4	NP_000780.1:p.(Gly267Arg)	NC_000017.10:g.61557841G>A	VUS	1 lab	55ca85e9bd
11:66322675 ACTN3 G>A	11	66322675	66322675	G	A	ACTN3	c.632G>A	NM_001104.4	NP_001095.2:p.(Arg211Gln)	NC_000011.9:g.66322675G>A	(Likely) benign	1 lab	55cb02a841
18:19751972 GATA6 C>T	18	19751972	19751972	C	T	GATA6	c.867C>T	NM_005257.6	NP_005248.2:p.(Gly289=)	NC_000018.9:g.19751972C>T	(Likely) benign	1 lab	55cdea9cd7
1:154841770 KCNN3 C>T	1	154841770	154841770	C	T	KCNN3	c.671G>A	NM_002249.6	NP_002240.3:p.(Arg224Gln)	NC_000001.10:g.154841770C>T	VUS	1 lab	55cdf5645e
15:34145820 RYR3 A>G	15	34145820	34145820	A	G	RYR3	c.13736A>G	NM_001036.6	NP_001027.3:p.(Lys4579Arg)	NC_000015.9:g.34145820A>G	VUS	1 lab	55d018fa57
4:108948869 HADH G>A	4	108948869	108948869	G	A	HADH	c.662G>A	NM_005327.7	NP_005318.6:p.(Arg221His)	NC_000004.11:g.108948869G>A	VUS	1 lab	55d03c1416
8:99148717 POP1 T>C	8	99148717	99148717	T	C	POP1	c.1019T>C	NM_001145860.2	NP_001139332.1:p.(Leu340Ser)	NC_000008.10:g.99148717T>C	VUS	1 lab	55d116a830
3:135974807 PCCB A>G	3	135974807	135974807	A	G	PCCB	c.293A>G	NM_000532.5	NP_000523.2:p.(Asp98Gly)	NC_000003.11:g.135974807A>G	VUS	1 lab	55d2d14ba5
17:48703927 CACNA1G G>A	17	48703927	48703927	G	A	CACNA1G	c.6949G>A	NM_018896.5	NP_061496.2:p.(Glu2317Lys)	NC_000017.10:g.48703927G>A	(Likely) benign	1 lab	55d73b85cd
6:26156752 H1-4 C>T	6	26156752	26156752	C	T	H1-4	c.134C>T	NM_005321.3	NP_005312.1:p.(Thr45Ile)	NC_000006.11:g.26156752C>T	(Likely) benign	1 lab	55d77be340
19:7172366 INSR G>A	19	7172366	7172366	G	A	INSR	c.1203C>T	NM_000208.4	NP_000199.2:p.(Tyr401=)	NC_000019.9:g.7172366G>A	(Likely) benign	1 lab	55d8651e4e
8:116616917 TRPS1 A>C	8	116616917	116616917	A	C	TRPS1	c.1279T>G	NM_014112.5	NP_054831.2:p.(Ser427Ala)	NC_000008.10:g.116616917A>C	(Likely) benign	1 lab	55d8887762
X:39921475 BCOR T>C	X	39921475	39921475	T	C	BCOR	c.4345A>G	NM_001123385.2	NP_001116857.1:p.(Met1449Val)	NC_000023.10:g.39921475T>C	VUS	1 lab	55da778b99
17:48276622 COL1A1 G>T	17	48276622	48276622	G	T	COL1A1	c.436C>A	NM_000088.4	NP_000079.2:p.(Pro146Thr)	NC_000017.10:g.48276622G>T	VUS	1 lab	55db5e322b
20:43257727 ADA T>C	20	43257727	43257727	T	C	ADA	c.179A>G	NM_000022.4	NP_000013.2:p.(Asp60Gly)	NC_000020.10:g.43257727T>C	VUS	1 lab	55dbfaa76a
19:41072167 SPTBN4 G>A	19	41072167	41072167	G	A	SPTBN4	c.6238G>A	NM_020971.3	NP_066022.2:p.(Val2080Met)	NC_000019.9:g.41072167G>A	VUS	1 lab	55dcd250d6
6:51915053 PKHD1 A>T	6	51915053	51915053	A	T	PKHD1	c.2181T>A	NM_138694.4	NP_619639.3:p.(Asn727Lys)	NC_000006.11:g.51915053A>T	(Likely) benign	1 lab	55dd36c65b
9:109701287 ZNF462 C>T	9	109701287	109701287	C	T	ZNF462	c.6326C>T	NM_021224.6	NP_067047.4:p.(Ala2109Val)	NC_000009.11:g.109701287C>T	VUS	1 lab	55de6ef192
8:105160982 RIMS2 T>A	8	105160982	105160982	T	A	RIMS2	c.4014T>A	NM_001348484.3	NP_001335413.1:p.(Ser1338Arg)	NC_000008.10:g.105160982T>A	(Likely) benign	1 lab	55de933275
1:45797464 MUTYH G>A	1	45797464	45797464	G	A	MUTYH	c.971C>T	NM_001048174.2	NP_001041639.1:p.(Thr324Ile)	NC_000001.10:g.45797464G>A	VUS	1 lab	55de956772
5:1409835 SLC6A3 C>T	5	1409835	1409835	C	T	SLC6A3	c.1398+1G>A	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1409835C>T	VUS	1 lab	55df08f1a4
1:12027111 PLOD1 T>C	1	12027111	12027111	T	C	PLOD1	c.1718T>C	NM_000302.4	NP_000293.2:p.(Met573Thr)	NC_000001.10:g.12027111T>C	VUS	1 lab	55e041f954
5:118485417 DMXL1 G>T	5	118485417	118485417	G	T	DMXL1	c.3895G>T	NM_001290321.3	NP_001277250.1:p.(Ala1299Ser)	NC_000005.9:g.118485417G>T	VUS	1 lab	55e08cde51
X:122538640 GRIA3 G>C	X	122538640	122538640	G	C	GRIA3	c.1375G>C	NM_007325.5	NP_015564.5:p.(Ala459Pro)	NC_000023.10:g.122538640G>C	(Likely) pathogenic	1 lab	55e13c8695
20:9295677 PLCB4 C>G	20	9295677	9295677	C	G	PLCB4	c.84+7132C>G	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9295677C>G	(Likely) benign	1 lab	55e2d3d4b3
12:53722883 SP7 C>T	12	53722883	53722883	C	T	SP7	c.343G>A	NM_001173467.3	NP_001166938.1:p.(Gly115Arg)	NC_000012.11:g.53722883C>T	(Likely) benign	1 lab	55e41ccd4d
17:71161434 SSTR2 G>GGTGT	17	71161434	71161475	G	GGTGT	SSTR2	c.-93+45_-93+48dup	NM_001050.3	NP_001041.1:p.?	NC_000017.10:g.71161472_71161475dup	(Likely) benign	1 lab	55e606447b
X:110931118 ALG13 G>T	X	110931118	110931118	G	T	ALG13	c.383+2787G>T	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110931118G>T	(Likely) benign	1 lab	55e8197b8a
1:155874223 RIT1 G>A	1	155874223	155874223	G	A	RIT1	c.308C>T	NM_006912.6	NP_008843.1:p.(Thr103Met)	NC_000001.10:g.155874223G>A	(Likely) pathogenic	1 lab	55e8655672
3:57489826 DNAH12 C>T	3	57489826	57489826	C	T	DNAH12	c.1003G>A	NM_001366028.2	NP_001352957.1:p.(Asp335Asn)	NC_000003.11:g.57489826C>T	(Likely) benign	1 lab	55e92e6bf1
X:39932135 BCOR ACACGTTT>A	X	39932135	39932142	ACACGTTT	A	BCOR	c.2457_2463del	NM_001123385.2	NP_001116857.1:p.(Asn820ProfsTer34)	NC_000023.10:g.39932136_39932142del	VUS	1 lab	55ea5eee5b
4:15977823 PROM1 A>C	4	15977823	15977823	A	C	PROM1	c.2555+3195T>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15977823A>C	(Likely) benign	1 lab	20742247d0
19:40392655 FCGBP C>G	19	40392655	40392655	C	G	FCGBP	c.7849G>C	NM_003890.3	NP_003881.2:p.(Gly2617Arg)	NC_000019.9:g.40392655C>G	VUS	1 lab	55eb5dde7c
10:26492008 MYO3A C>T	10	26492008	26492008	C	T	MYO3A	c.4702C>T	NM_017433.5	NP_059129.3:p.(Gln1568Ter)	NC_000010.10:g.26492008C>T	VUS	1 lab	55ebb5ae4d
X:132090857 HS6ST2 T>C	X	132090857	132090857	T	C	HS6ST2	c.926A>G	NM_001394073.1	NP_001381002.1:p.(Asp309Gly)	NC_000023.10:g.132090857T>C	VUS	1 lab	55eced4e62
10:95658469 SLC35G1 T>G	10	95658469	95658469	T	G	SLC35G1	c.320T>G	NM_001134658.3	NP_001128130.1:p.(Phe107Cys)	NC_000010.10:g.95658469T>G	VUS	1 lab	55ed14edb2
4:1978253 NSD2 A>G	4	1978253	1978253	A	G	NSD2	c.3673A>G	NM_001042424.3	NP_001035889.1:p.(Thr1225Ala)	NC_000004.11:g.1978253A>G	(Likely) benign	1 lab	55ed24ac95
14:74971700 LTBP2 G>A	14	74971700	74971700	G	A	LTBP2	c.4355C>T	NM_000428.3	NP_000419.1:p.(Pro1452Leu)	NC_000014.8:g.74971700G>A	VUS	1 lab	55ee246b8e
1:3328735 PRDM16 C>T	1	3328735	3328735	C	T	PRDM16	c.1974C>T	NM_022114.4	NP_071397.3:p.(Ala658=)	NC_000001.10:g.3328735C>T	(Likely) benign	1 lab	20747dbc99
4:72121012 SLC4A4 G>C	4	72121012	72121012	G	C	SLC4A4	c.149G>C	NM_001098484.3	NP_001091954.1:p.(Gly50Ala)	NC_000004.11:g.72121012G>C	VUS	1 lab	55f05bcccf
X:49088375 CACNA1F G>A	X	49088375	49088375	G	A	CACNA1F	c.40C>T	NM_001256789.3	NP_001243718.1:p.(Pro14Ser)	NC_000023.10:g.49088375G>A	(Likely) benign	1 lab	55f369601f
3:49759490 GMPPB G>A	3	49759490	49759490	G	A	GMPPB	c.859C>T	NM_021971.4	NP_068806.2:p.(Arg287Trp)	NC_000003.11:g.49759490G>A	(Likely) pathogenic	1 lab	55f5150063
8:144893150 SCRIB G>A	8	144893150	144893150	G	A	SCRIB	c.1199C>T	NM_182706.5	NP_874365.3:p.(Thr400Met)	NC_000008.10:g.144893150G>A	VUS	1 lab	55f5ba4303
15:44068735 ELL3 G>C	15	44068735	44068735	G	C	ELL3	c.140C>G	NM_025165.3	NP_079441.1:p.(Pro47Arg)	NC_000015.9:g.44068735G>C	VUS	1 lab	55f772ba32
11:67934604 KMT5B G>A	11	67934604	67934604	G	A	KMT5B	c.1019C>T	NM_017635.5	NP_060105.3:p.(Ala340Val)	NC_000011.9:g.67934604G>A	(Likely) benign	1 lab	55f84d2e86
15:85403122 ALPK3 CTC>TTT	15	85403122	85403124	CTC	TTT	ALPK3	c.4081_4083delinsTTT	NM_020778.5	NP_065829.4:p.(Leu1361Phe)	NC_000015.9:g.85403122_85403124delinsTTT	VUS	1 lab	55fa272a4e
5:13913886 DNAH5 A>G	5	13913886	13913886	A	G	DNAH5	c.1502T>C	NM_001369.3	NP_001360.1:p.(Ile501Thr)	NC_000005.9:g.13913886A>G	VUS	1 lab	55fa91cb85
17:66520189 PRKAR1A T>G	17	66520189	66520189	T	G	PRKAR1A	c.473T>G	NM_002734.5	NP_002725.1:p.(Phe158Cys)	NC_000017.10:g.66520189T>G	VUS	1 lab	55fb0a49ca
11:66335783 CTSF G>A	11	66335783	66335783	G	A	CTSF	c.175C>T	NM_003793.4	NP_003784.2:p.(Arg59Trp)	NC_000011.9:g.66335783G>A	VUS	1 lab	55fdad344b
11:1629099 KRTAP5-3 G>A	11	1629099	1629099	G	A	KRTAP5-3	c.517C>T	NM_001012708.2	NP_001012726.1:p.(Pro173Ser)	NC_000011.9:g.1629099G>A	VUS	1 lab	55fed64f7a
7:6035219 PMS2 A>T	7	6035219	6035219	A	T	PMS2	c.849T>A	NM_000535.7	NP_000526.2:p.(Ser283Arg)	NC_000007.13:g.6035219A>T	VUS	1 lab	5600255a0e
19:39003120 RYR1 A>T	19	39003120	39003120	A	T	RYR1	c.9469A>T	NM_000540.3	NP_000531.2:p.(Ile3157Phe)	NC_000019.9:g.39003120A>T	VUS	1 lab	560304e80e
12:50042815 FMNL3 C>CTG	12	50042815	50042817	C	CTG	FMNL3	c.2510_2511dup	NM_175736.5	NP_783863.4:p.(Ala838GlnfsTer12)	NC_000012.11:g.50042816_50042817dup	(Likely) pathogenic	1 lab	5604d0da74
4:187516939 FAT1 G>T	4	187516939	187516939	G	T	FAT1	c.13042C>A	NM_005245.4	NP_005236.2:p.(Leu4348Ile)	NC_000004.11:g.187516939G>T	(Likely) benign	1 lab	56055cc3a9
20:62038340 KCNQ2 T>C	20	62038340	62038340	T	C	KCNQ2	c.2276A>G	NM_172107.4	NP_742105.1:p.(Asn759Ser)	NC_000020.10:g.62038340T>C	VUS	1 lab	5605ce19e7
15:89876858 POLGARF T>TGCC	15	89876858	89876869	T	TGCC	POLGARF	c.180_182dup	NM_001430120.1	NP_001417049.1:p.(Ala71dup)	NC_000015.9:g.89876867_89876869dup	VUS	1 lab	5606a902b2
X:153185114 ARHGAP4 G>A	X	153185114	153185114	G	A	ARHGAP4	c.682-377C>T	NM_001666.5	NP_001657.3:p.?	NC_000023.10:g.153185114G>A	VUS	1 lab	5606d29dcb
2:219922213 IHH G>C	2	219922213	219922213	G	C	IHH	c.519C>G	NM_002181.4	NP_002172.2:p.(Ala173=)	NC_000002.11:g.219922213G>C	(Likely) benign	1 lab	5608748360
4:155254071 DCHS2 G>C	4	155254071	155254071	G	C	DCHS2	c.3289C>G	NM_001358235.2	NP_001345164.1:p.(Leu1097Val)	NC_000004.11:g.155254071G>C	VUS	1 lab	56090c5fe0
18:48573289 SMAD4 G>T	18	48573289	48573289	G	T	SMAD4	c.-127-1G>T	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573289G>T	(Likely) benign	1 lab	560d4260f7
7:45104135 CCM2 A>G	7	45104135	45104135	A	G	CCM2	c.362A>G	NM_031443.4	NP_113631.1:p.(Lys121Arg)	NC_000007.13:g.45104135A>G	VUS	1 lab	560dd517c5
19:18896588 COMP C>T	19	18896588	18896588	C	T	COMP	c.1563G>A	NM_000095.3	NP_000086.2:p.(Pro521=)	NC_000019.9:g.18896588C>T	(Likely) benign	1 lab	56121c2289
11:45937246 PEX16 C>CA	11	45937246	45937248	C	CA	PEX16	c.359+7dup	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45937248dup	(Likely) benign	1 lab	5612806778
9:109687437 ZNF462 A>AGCTGATGGGCT	9	109687437	109687448	A	AGCTGATGGGCT	ZNF462	c.1245_1255dup	NM_021224.6	NP_067047.4:p.(Ser419CysfsTer2)	NC_000009.11:g.109687438_109687448dup	(Likely) pathogenic	1 lab	20747e7cd9
3:9988212 PRRT3 C>CCGCGCA	3	9988212	9988226	C	CCGCGCA	PRRT3	c.2639_2644dup	NM_207351.5	NP_997234.3:p.(Val880_Arg881dup)	NC_000003.11:g.9988221_9988226dup	(Likely) benign	1 lab	5612debe7d
22:41253254 XPNPEP3 G>C	22	41253254	41253254	G	C	XPNPEP3	c.64+5G>C	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41253254G>C	VUS	1 lab	561478f26e
7:42007334 GLI3 T>G	7	42007334	42007334	T	G	GLI3	c.2291A>C	NM_000168.6	NP_000159.3:p.(Gln764Pro)	NC_000007.13:g.42007334T>G	(Likely) benign	1 lab	5614eb8347
2:174828497 SP3 C>G	2	174828497	174828497	C	G	SP3	c.271G>C	NM_003111.5	NP_003102.1:p.(Ala91Pro)	NC_000002.11:g.174828497C>G	(Likely) benign	1 lab	5615afa300
11:58919451 FAM111A T>A	11	58919451	58919451	T	A	FAM111A	c.310T>A	NM_001312909.2	NP_001299838.1:p.(Leu104Ile)	NC_000011.9:g.58919451T>A	(Likely) benign	1 lab	561686dba6
5:137727212 KDM3B G>A	5	137727212	137727212	G	A	KDM3B	c.1891G>A	NM_016604.4	NP_057688.3:p.(Glu631Lys)	NC_000005.9:g.137727212G>A	VUS	1 lab	5617f5dff7
11:43436291 TTC17 C>A	11	43436291	43436291	C	A	TTC17	c.2216C>A	NM_018259.6	NP_060729.2:p.(Pro739His)	NC_000011.9:g.43436291C>A	(Likely) benign	1 lab	56193e7015
11:70805714 SHANK2 C>A	11	70805714	70805714	C	A	SHANK2	c.613G>T	NM_012309.5	NP_036441.2:p.(Ala205Ser)	NC_000011.9:g.70805714C>A	(Likely) benign	1 lab	561951d939
11:67811392 TCIRG1 TCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTC>T	11	67811392	67811436	TCCGGAGGCGGGTGTAGGAGGTGGGTGCCCCCGGCCTC	T	TCIRG1	c.807+26_807+62del	NM_006019.4	NP_006010.2:p.?	NC_000011.9:g.67811400_67811436del	(Likely) benign	1 lab	2136a42f20
6:155469427 TIAM2 G>A	6	155469427	155469427	G	A	TIAM2	c.1987G>A	NM_012454.4	NP_036586.3:p.(Val663Met)	NC_000006.11:g.155469427G>A	(Likely) benign	1 lab	561e9bde85
17:4575598 PELP1 CTCT>C	17	4575598	4575606	CTCT	C	PELP1	c.2685_2687del	NM_014389.3	NP_055204.4:p.(Glu908del)	NC_000017.10:g.4575604_4575606del	VUS	1 lab	561eb4be06
3:37059054 MLH1 A>G	3	37059054	37059054	A	G	MLH1	c.848A>G	NM_000249.4	NP_000240.1:p.(Tyr283Cys)	NC_000003.11:g.37059054A>G	VUS	1 lab	561f99efc3
1:7723901 CAMTA1 G>A	1	7723901	7723901	G	A	CAMTA1	c.1294G>A	NM_015215.4	NP_056030.1:p.(Val432Ile)	NC_000001.10:g.7723901G>A	VUS	1 lab	5621c2f739
6:111696200 REV3L G>T	6	111696200	111696200	G	T	REV3L	c.3358C>A	NM_001372078.1	NP_001359007.1:p.(Pro1120Thr)	NC_000006.11:g.111696200G>T	VUS	1 lab	562225e9e7
14:36988346 NKX2-1 CCGCCGTCATGTGGTAGGCGGCGGTGACGG>C	14	36988346	36988381	CCGCCGTCATGTGGTAGGCGGCGGTGACGG	C	NKX2-1	c.278_306del	NM_001079668.3	NP_001073136.1:p.(Ala93GlyfsTer336)	NC_000014.8:g.36988353_36988381del	(Likely) pathogenic	1 lab	5622bd9a92
16:30976220 SETD1A G>A	16	30976220	30976220	G	A	SETD1A	c.1157G>A	NM_014712.3	NP_055527.1:p.(Arg386Gln)	NC_000016.9:g.30976220G>A	(Likely) benign	1 lab	56232f864a
5:151208481 GLRA1 C>T	5	151208481	151208481	C	T	GLRA1	c.1059+1G>A	NM_000171.4	NP_000162.2:p.?	NC_000005.9:g.151208481C>T	(Likely) pathogenic	1 lab	5624b30a31
19:4099220 MAP2K2 G>C	19	4099220	4099220	G	C	MAP2K2	c.898C>G	NM_030662.4	NP_109587.1:p.(Pro300Ala)	NC_000019.9:g.4099220G>C	VUS	1 lab	56256ed4cb
22:37482333 TMPRSS6 C>T	22	37482333	37482333	C	T	TMPRSS6	c.963G>A	NM_001374504.1	NP_001361433.1:p.(Val321=)	NC_000022.10:g.37482333C>T	VUS	1 lab	56272dd145
7:151878265 KMT2C G>T	7	151878265	151878265	G	T	KMT2C	c.6680C>A	NM_170606.3	NP_733751.2:p.(Pro2227Gln)	NC_000007.13:g.151878265G>T	VUS	1 lab	5627ef4d2d
9:139992342 MAN1B1 T>C	9	139992342	139992342	T	C	MAN1B1	c.683T>C	NM_016219.5	NP_057303.2:p.(Val228Ala)	NC_000009.11:g.139992342T>C	(Likely) benign	1 lab	5629f27343
X:31090043 FTHL17 G>A	X	31090043	31090043	G	A	FTHL17	c.28C>T	NM_031894.3	NP_114100.1:p.(Arg10Cys)	NC_000023.10:g.31090043G>A	VUS	1 lab	562c2484b6
8:145004139 PLEC C>T	8	145004139	145004139	C	T	PLEC	c.2704G>A	NM_201384.3	NP_958786.1:p.(Asp902Asn)	NC_000008.10:g.145004139C>T	VUS	1 lab	562c81d9e9
X:3228220 MXRA5 T>C	X	3228220	3228220	T	C	MXRA5	c.8024A>G	NM_015419.4	NP_056234.2:p.(Asn2675Ser)	NC_000023.10:g.3228220T>C	VUS	1 lab	57a917fe5a
8:144873846 SCRIB T>C	8	144873846	144873846	T	C	SCRIB	c.4760A>G	NM_182706.5	NP_874365.3:p.(Tyr1587Cys)	NC_000008.10:g.144873846T>C	(Likely) benign	1 lab	562e682a13
10:100183570 HPS1 G>C	10	100183570	100183570	G	C	HPS1	c.1472C>G	NM_000195.5	NP_000186.2:p.(Pro491Arg)	NC_000010.10:g.100183570G>C	(Likely) benign	1 lab	207822a65d
13:24466041 C1QTNF9B A>C	13	24466041	24466041	A	C	C1QTNF9B	c.389T>G	NM_001007537.3	NP_001007538.1:p.(Val130Gly)	NC_000013.10:g.24466041A>C	(Likely) benign	1 lab	562ec1b1b0
17:33497209 UNC45B G>A	17	33497209	33497209	G	A	UNC45B	c.1624G>A	NM_001267052.2	NP_001253981.1:p.(Ala542Thr)	NC_000017.10:g.33497209G>A	(Likely) benign	1 lab	562fd9615b
14:105407539 AHNAK2 G>A	14	105407539	105407539	G	A	AHNAK2	c.14249C>T	NM_138420.4	NP_612429.2:p.(Ser4750Leu)	NC_000014.8:g.105407539G>A	(Likely) benign	1 lab	5630a400cb
6:88218282 SLC35A1 A>G	6	88218282	88218282	A	G	SLC35A1	c.719A>G	NM_006416.5	NP_006407.1:p.(Tyr240Cys)	NC_000006.11:g.88218282A>G	VUS	1 lab	563110b66d
16:16230462 ABCC1 A>G	16	16230462	16230462	A	G	ABCC1	c.4253A>G	NM_004996.4	NP_004987.2:p.(Lys1418Arg)	NC_000016.9:g.16230462A>G	VUS	1 lab	56317dc63a
3:9934817 JAGN1 C>T	3	9934817	9934817	C	T	JAGN1	c.308C>T	NM_032492.4	NP_115881.3:p.(Ser103Phe)	NC_000003.11:g.9934817C>T	VUS	1 lab	563227ace4
6:42946272 PEX6 C>T	6	42946272	42946272	C	T	PEX6	c.617G>A	NM_000287.4	NP_000278.3:p.(Gly206Glu)	NC_000006.11:g.42946272C>T	VUS	1 lab	5632a97129
21:47862480 PCNT C>T	21	47862480	47862480	C	T	PCNT	c.9694C>T	NM_006031.6	NP_006022.3:p.(Arg3232Cys)	NC_000021.8:g.47862480C>T	(Likely) benign	1 lab	5633e4078b
11:3041572 CARS1 C>G	11	3041572	3041572	C	G	CARS1	c.1154-10G>C	NM_001014437.3	NP_001014437.1:p.?	NC_000011.9:g.3041572C>G	(Likely) benign	1 lab	5633e8b1dc
1:225600351 LBR T>TA	1	225600351	225600367	T	TA	LBR	c.893-5dup	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225600367dup	(Likely) benign	1 lab	5637e1bb5f
11:71146456 DHCR7 C>T	11	71146456	71146456	C	T	DHCR7	c.1393G>A	NM_001360.3	NP_001351.2:p.(Ala465Thr)	NC_000011.9:g.71146456C>T	VUS	1 lab	563b1e9c0e
X:154741449 TMLHE T>C	X	154741449	154741449	T	C	TMLHE	c.643A>G	NM_018196.4	NP_060666.1:p.(Thr215Ala)	NC_000023.10:g.154741449T>C	VUS	1 lab	563b44fbb0
20:33575689 MYH7B T>C	20	33575689	33575689	T	C	MYH7B	c.1388T>C	NM_020884.7	NP_065935.4:p.(Leu463Pro)	NC_000020.10:g.33575689T>C	VUS	1 lab	563c2769da
5:42711454 GHR G>A	5	42711454	42711454	G	A	GHR	c.764G>A	NM_000163.5	NP_000154.1:p.(Ser255Asn)	NC_000005.9:g.42711454G>A	(Likely) benign	1 lab	563ca5482c
6:152652589 SYNE1 C>A	6	152652589	152652589	C	A	SYNE1	c.13231G>T	NM_182961.4	NP_892006.3:p.(Val4411Phe)	NC_000006.11:g.152652589C>A	(Likely) benign	1 lab	563e9021f9
9:135946605 CEL C>G	9	135946605	135946605	C	G	CEL	c.1716C>G	NM_001807.6	NP_001798.3:p.(Pro572=)	NC_000009.11:g.135946605C>G	(Likely) benign	1 lab	563fd0802c
X:107462966 COL4A6 T>A	X	107462966	107462966	T	A	COL4A6	c.286A>T	NM_033641.4	NP_378667.1:p.(Met96Leu)	NC_000023.10:g.107462966T>A	(Likely) benign	1 lab	56402d2b99
X:37027757 FAM47C A>G	X	37027757	37027757	A	G	FAM47C	c.1274A>G	NM_001013736.3	NP_001013758.1:p.(His425Arg)	NC_000023.10:g.37027757A>G	VUS	1 lab	5644a8825a
2:38302345 CYP1B1 C>G	2	38302345	38302345	C	G	CYP1B1	c.187G>C	NM_000104.4	NP_000095.2:p.(Ala63Pro)	NC_000002.11:g.38302345C>G	VUS	1 lab	564539d760
2:152364544 NEB C>T	2	152364544	152364544	C	T	NEB	c.23426G>A	NM_001164508.2	NP_001157980.2:p.(Arg7809Gln)	NC_000002.11:g.152364544C>T	(Likely) benign	1 lab	56456b58a5
8:32600281 NRG1 G>C	8	32600281	32600281	G	C	NRG1	c.700+688G>C	NM_013964.5	NP_039258.1:p.?	NC_000008.10:g.32600281G>C	(Likely) benign	1 lab	56458be7f8
11:67059190 ANKRD13D C>T	11	67059190	67059190	C	T	ANKRD13D	c.514C>T	NM_207354.3	NP_997237.2:p.(Arg172Trp)	NC_000011.9:g.67059190C>T	VUS	1 lab	56459ab889
16:1840958 IGFALS C>A	16	1840958	1840958	C	A	IGFALS	c.1461G>T	NM_004970.3	NP_004961.1:p.(Leu487=)	NC_000016.9:g.1840958C>A	(Likely) benign	1 lab	5645a517b5
6:70942390 COL9A1 G>C	6	70942390	70942390	G	C	COL9A1	c.2399C>G	NM_001851.6	NP_001842.3:p.(Pro800Arg)	NC_000006.11:g.70942390G>C	VUS	1 lab	56479db2c6
17:2203057 SMG6 G>C	17	2203057	2203057	G	C	SMG6	c.990C>G	NM_017575.5	NP_060045.4:p.(Asn330Lys)	NC_000017.10:g.2203057G>C	VUS	1 lab	5648bd47b6
12:106821137 POLR3B G>A	12	106821137	106821137	G	A	POLR3B	c.1263+1G>A	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106821137G>A	VUS	1 lab	564d63f50d
10:114900955 TCF7L2 C>T	10	114900955	114900955	C	T	TCF7L2	c.565C>T	NM_001367943.1	NP_001354872.1:p.(Pro189Ser)	NC_000010.10:g.114900955C>T	VUS	1 lab	564dc7c6af
1:151107666 SEMA6C C>T	1	151107666	151107666	C	T	SEMA6C	c.1553G>A	NM_030913.6	NP_112175.2:p.(Arg518Gln)	NC_000001.10:g.151107666C>T	(Likely) benign	1 lab	564de2274f
13:31774277 B3GLCT T>C	13	31774277	31774277	T	C	B3GLCT	c.56T>C	NM_194318.4	NP_919299.3:p.(Leu19Pro)	NC_000013.10:g.31774277T>C	VUS	1 lab	564e1b2ff8
16:2812467 SRRM2 GTCACGCTCTAGAACCCCAGCTAGACGTGGCCGC>G	16	2812467	2812508	GTCACGCTCTAGAACCCCAGCTAGACGTGGCCGC	G	SRRM2	c.1947_1979del	NM_016333.4	NP_057417.3:p.(Gly667_Arg677del)	NC_000016.9:g.2812476_2812508del	(Likely) benign	1 lab	564e59fe63
12:121434339 HNF1A C>T	12	121434339	121434339	C	T	HNF1A	c.1108-5C>T	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121434339C>T	(Likely) benign	1 lab	564e902881
14:64692150 SYNE2 C>T	14	64692150	64692150	C	T	SYNE2	c.20630C>T	NM_182914.3	NP_878918.2:p.(Ser6877Phe)	NC_000014.8:g.64692150C>T	(Likely) benign	1 lab	564f89ca4e
10:104375047 SUFU A>G	10	104375047	104375047	A	G	SUFU	c.1045A>G	NM_016169.4	NP_057253.2:p.(Ser349Gly)	NC_000010.10:g.104375047A>G	VUS	1 lab	564f9d00ef
11:108224460 ATM AACCTCCTAACTTCACTGTATTCTTTACTTTAGGTGTTGCTTTT>A	11	108224460	108224503	AACCTCCTAACTTCACTGTATTCTTTACTTTAGGTGTTGCTTTT	A	ATM	c.8672-32_8682del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224461_108224503del	VUS	1 lab	564ffc8438
X:106844912 FRMPD3 C>T	X	106844912	106844912	C	T	FRMPD3	c.3643C>T	NM_001388459.1	NP_001375388.1:p.(Arg1215Trp)	NC_000023.10:g.106844912C>T	(Likely) benign	1 lab	565088bb86
1:22417942 CDC42 G>A	1	22417942	22417942	G	A	CDC42	c.508G>A	NM_001791.4	NP_001782.1:p.(Asp170Asn)	NC_000001.10:g.22417942G>A	VUS	1 lab	5650a2e1b7
7:31793046 PDE1C G>C	7	31793046	31793046	G	C	PDE1C	c.2082C>G	NM_001191057.4	NP_001177986.1:p.(Ile694Met)	NC_000007.13:g.31793046G>C	(Likely) benign	1 lab	5652b9da0c
19:18981097 GDF1 C>T	19	18981097	18981097	C	T	GDF1	c.20G>A	NM_001492.6	NP_001483.3:p.(Gly7Asp)	NC_000019.9:g.18981097C>T	VUS	1 lab	56542a3d9c
11:47469403 RAPSN G>A	11	47469403	47469403	G	A	RAPSN	c.492C>T	NM_005055.5	NP_005046.2:p.(Arg164=)	NC_000011.9:g.47469403G>A	(Likely) benign	1 lab	5657eb1c61
15:100514739 ADAMTS17 G>T	15	100514739	100514739	G	T	ADAMTS17	c.3156C>A	NM_139057.4	NP_620688.2:p.(Asp1052Glu)	NC_000015.9:g.100514739G>T	VUS	1 lab	56580fbd17
11:64111929 CCDC88B G>A	11	64111929	64111929	G	A	CCDC88B	c.1916G>A	NM_032251.6	NP_115627.6:p.(Trp639Ter)	NC_000011.9:g.64111929G>A	VUS	1 lab	565899c3a0
19:36594608 WDR62 C>A	19	36594608	36594608	C	A	WDR62	c.3878C>A	NM_001083961.2	NP_001077430.1:p.(Ala1293Asp)	NC_000019.9:g.36594608C>A	VUS	1 lab	565a191c25
3:114070434 ZBTB20 C>T	3	114070434	114070434	C	T	ZBTB20	c.491G>A	NM_001348800.3	NP_001335729.1:p.(Arg164Gln)	NC_000003.11:g.114070434C>T	VUS	1 lab	565ab08ad1
2:175304672 GPR155 G>A	2	175304672	175304672	G	A	GPR155	c.2266C>T	NM_152529.7	NP_689742.4:p.(His756Tyr)	NC_000002.11:g.175304672G>A	VUS	1 lab	565add84ad
11:60891367 CD5 A>C	11	60891367	60891367	A	C	CD5	c.1237A>C	NM_014207.4	NP_055022.2:p.(Lys413Gln)	NC_000011.9:g.60891367A>C	VUS	1 lab	565e512821
19:42872598 MEGF8 C>T	19	42872598	42872598	C	T	MEGF8	c.6274-9C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42872598C>T	(Likely) benign	1 lab	565eb72cbf
7:104752660 KMT2E C>T	7	104752660	104752660	C	T	KMT2E	c.4457C>T	NM_182931.3	NP_891847.1:p.(Pro1486Leu)	NC_000007.13:g.104752660C>T	(Likely) benign	1 lab	565ebb96cc
18:44561281 KATNAL2 G>A	18	44561281	44561281	G	A	KATNAL2	c.52-11547G>A	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44561281G>A	(Likely) benign	1 lab	565ecb337e
5:7868043 FASTKD3 G>C	5	7868043	7868043	G	C	FASTKD3	c.154C>G	NM_024091.4	NP_076996.2:p.(Pro52Ala)	NC_000005.9:g.7868043G>C	VUS	1 lab	565f311f1e
2:238249751 COL6A3 C>T	2	238249751	238249751	C	T	COL6A3	c.7808G>A	NM_004369.4	NP_004360.2:p.(Arg2603Lys)	NC_000002.11:g.238249751C>T	VUS	1 lab	565fc69c1f
19:8654374 ADAMTS10 G>A	19	8654374	8654374	G	A	ADAMTS10	c.1996C>T	NM_030957.4	NP_112219.3:p.(Pro666Ser)	NC_000019.9:g.8654374G>A	(Likely) benign	1 lab	565ffdb6bf
19:41268918 SNRPA TC>T	19	41268918	41268921	TC	T	SNRPA	c.542del	NM_004596.5	NP_004587.1:p.(Pro181HisfsTer95)	NC_000019.9:g.41268921del	VUS	1 lab	5660131194
X:152913660 DUSP9 G>A	X	152913660	152913660	G	A	DUSP9	c.253G>A	NM_001318503.2	NP_001305432.1:p.(Gly85Arg)	NC_000023.10:g.152913660G>A	(Likely) benign	1 lab	5660af1958
19:1556140 MEX3D G>GGAAGTC	19	1556140	1556156	G	GGAAGTC	MEX3D	c.1372_1377dup	NM_203304.4	NP_976049.3:p.(Asp458_Phe459dup)	NC_000019.9:g.1556151_1556156dup	(Likely) benign	1 lab	5661102ae7
3:191889979 FGF12 A>C	3	191889979	191889979	A	C	FGF12	c.229-1534T>G	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.191889979A>C	(Likely) benign	1 lab	5663104ef7
12:6446777 TNFRSF1A G>A	12	6446777	6446777	G	A	TNFRSF1A	c.40-3367C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6446777G>A	(Likely) benign	1 lab	35e28a2559
2:152482116 NEB G>A	2	152482116	152482116	G	A	NEB	c.10384C>T	NM_001164508.2	NP_001157980.2:p.(Gln3462Ter)	NC_000002.11:g.152482116G>A	VUS	1 lab	5665a71e5a
5:42566018 GHR A>G	5	42566018	42566018	A	G	GHR	c.42A>G	NM_000163.5	NP_000154.1:p.(Gly14=)	NC_000005.9:g.42566018A>G	(Likely) benign	1 lab	56666392ed
12:65563619 LEMD3 A>AGCG	12	65563619	65563633	A	AGCG	LEMD3	c.255_257dup	NM_014319.5	NP_055134.2:p.(Ala87dup)	NC_000012.11:g.65563631_65563633dup	(Likely) benign	1 lab	566747af5a
1:27099101 ARID1A A>T	1	27099101	27099101	A	T	ARID1A	c.3517A>T	NM_006015.6	NP_006006.3:p.(Ile1173Phe)	NC_000001.10:g.27099101A>T	(Likely) benign	1 lab	5668499e04
2:70524359 TIMCC T>C	2	70524359	70524359	T	C	TIMCC	c.*62A>G	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524359T>C	VUS	1 lab	56694d1d2d
8:1626383 DLGAP2 C>G	8	1626383	1626383	C	G	DLGAP2	c.2292C>G	NM_001346810.2	NP_001333739.1:p.(His764Gln)	NC_000008.10:g.1626383C>G	VUS	1 lab	566b83dcc3
12:49435216 KMT2D G>C	12	49435216	49435216	G	C	KMT2D	c.6337C>G	NM_003482.4	NP_003473.3:p.(Leu2113Val)	NC_000012.11:g.49435216G>C	VUS	1 lab	566bed637b
17:7751840 KDM6B C>T	17	7751840	7751840	C	T	KDM6B	c.2234C>T	NM_001348716.2	NP_001335645.1:p.(Thr745Ile)	NC_000017.10:g.7751840C>T	(Likely) benign	1 lab	566d4d84b8
4:6303935 WFS1 C>T	4	6303935	6303935	C	T	WFS1	c.2413C>T	NM_006005.3	NP_005996.2:p.(Arg805Trp)	NC_000004.11:g.6303935C>T	VUS	1 lab	566e5c444a
X:47003874 NDUFB11 T>C	X	47003874	47003874	T	C	NDUFB11	c.205A>G	NM_001135998.3	NP_001129470.1:p.(Lys69Glu)	NC_000023.10:g.47003874T>C	(Likely) benign	1 lab	566f9ac028
7:99755086 TRAPPC14 C>A	7	99755086	99755086	C	A	TRAPPC14	c.638-4G>T	NM_018275.5	NP_060745.3:p.?	NC_000007.13:g.99755086C>A	VUS	1 lab	567b497295
13:36878706 SPART T>TA	13	36878706	36878707	T	TA	SPART	c.1796dup	NM_015087.5	NP_055902.1:p.(Thr600AsnfsTer6)	NC_000013.10:g.36878707dup	VUS	1 lab	566fbc52b1
17:78078769 GAA C>G	17	78078769	78078769	C	G	GAA	c.384C>G	NM_000152.5	NP_000143.2:p.(Phe128Leu)	NC_000017.10:g.78078769C>G	VUS	1 lab	56725d9838
3:122001069 CASR A>G	3	122001069	122001069	A	G	CASR	c.1718A>G	NM_000388.4	NP_000379.3:p.(Tyr573Cys)	NC_000003.11:g.122001069A>G	(Likely) pathogenic	1 lab	567471b538
10:46322267 AGAP4 C>A	10	46322267	46322267	C	A	AGAP4	c.1157G>T	NM_001276343.3	NP_001263272.2:p.(Ser386Ile)	NC_000010.10:g.46322267C>A	(Likely) benign	1 lab	567571d83c
7:21727126 DNAH11 A>C	7	21727126	21727126	A	C	DNAH11	c.5905A>C	NM_001277115.2	NP_001264044.1:p.(Ile1969Leu)	NC_000007.13:g.21727126A>C	VUS	1 lab	56769f91b1
15:43313489 UBR1 A>G	15	43313489	43313489	A	G	UBR1	c.2924T>C	NM_174916.3	NP_777576.1:p.(Ile975Thr)	NC_000015.9:g.43313489A>G	VUS	1 lab	5676bfaae0
12:121435467 HNF1A C>T	12	121435467	121435467	C	T	HNF1A	c.1500C>T	NM_000545.8	NP_000536.6:p.(His500=)	NC_000012.11:g.121435467C>T	(Likely) benign	1 lab	567837ab12
9:35062232 VCP G>A	9	35062232	35062232	G	A	VCP	c.927C>T	NM_007126.5	NP_009057.1:p.(Ile309=)	NC_000009.11:g.35062232G>A	(Likely) benign	1 lab	567ab528ea
17:19552298 ALDH3A2 T>C	17	19552298	19552298	T	C	ALDH3A2	c.14T>C	NM_000382.3	NP_000373.1:p.(Val5Ala)	NC_000017.10:g.19552298T>C	VUS	1 lab	567af345a9
1:11863514 MTHFR T>C	1	11863514	11863514	T	C	MTHFR	c.-13-328A>G	NM_005957.5	NP_005948.3:p.?	NC_000001.10:g.11863514T>C	VUS	1 lab	56dd82971b
14:75475757 EIF2B2 G>A	14	75475757	75475757	G	A	EIF2B2	c.922G>A	NM_014239.4	NP_055054.1:p.(Val308Met)	NC_000014.8:g.75475757G>A	(Likely) pathogenic	1 lab	567f428ae9
11:17408756 KCNJ11 C>T	11	17408756	17408756	C	T	KCNJ11	c.883G>A	NM_000525.4	NP_000516.3:p.(Gly295Ser)	NC_000011.9:g.17408756C>T	VUS	1 lab	567f888422
11:89705429 TRIM64 A>G	11	89705429	89705429	A	G	TRIM64	c.823A>G	NM_001136486.2	NP_001129958.1:p.(Thr275Ala)	NC_000011.9:g.89705429A>G	(Likely) benign	1 lab	56807b42e6
4:148778794 ARHGAP10 C>T	4	148778794	148778794	C	T	ARHGAP10	c.475C>T	NM_024605.4	NP_078881.3:p.(His159Tyr)	NC_000004.11:g.148778794C>T	(Likely) benign	1 lab	5680ae7e5e
21:41151122 IGSF5 T>C	21	41151122	41151122	T	C	IGSF5	c.824T>C	NM_001080444.2	NP_001073913.1:p.(Met275Thr)	NC_000021.8:g.41151122T>C	(Likely) benign	1 lab	5684b55d63
14:74971477 LTBP2 T>C	14	74971477	74971477	T	C	LTBP2	c.4453+4A>G	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74971477T>C	(Likely) benign	1 lab	5689681911
22:42910199 RRP7A G>A	22	42910199	42910199	G	A	RRP7A	c.670C>T	NM_015703.5	NP_056518.2:p.(Arg224Trp)	NC_000022.10:g.42910199G>A	VUS	1 lab	568afaf33d
2:73678384 ALMS1 C>T	2	73678384	73678384	C	T	ALMS1	c.4730C>T	NM_001378454.1	NP_001365383.1:p.(Pro1577Leu)	NC_000002.11:g.73678384C>T	VUS	1 lab	568bb42c63
1:16255721 SPEN G>GA	1	16255721	16255725	G	GA	SPEN	c.2990dup	NM_015001.3	NP_055816.2:p.(Gln998AlafsTer24)	NC_000001.10:g.16255725dup	(Likely) pathogenic	1 lab	568d871c53
1:159275827 FCER1A C>T	1	159275827	159275827	C	T	FCER1A	c.381C>T	NM_001387280.1	NP_001374209.1:p.(Pro127=)	NC_000001.10:g.159275827C>T	VUS	1 lab	568dce3b05
14:65264429 SPTB CGGAAAATGCTGTGGTACCCTG>C	14	65264429	65264450	CGGAAAATGCTGTGGTACCCTG	C	SPTB	c.1179_1182+17del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65264430_65264450del	(Likely) pathogenic	1 lab	568de9ef02
1:32042871 TINAGL1 G>A	1	32042871	32042871	G	A	TINAGL1	c.122G>A	NM_022164.3	NP_071447.1:p.(Arg41Gln)	NC_000001.10:g.32042871G>A	VUS	1 lab	569037e5ed
13:32705978 FRY G>C	13	32705978	32705978	G	C	FRY	c.885+1G>C	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32705978G>C	VUS	1 lab	569086870d
5:86658389 RASA1 GAC>G	5	86658389	86658394	GAC	G	RASA1	c.1358_1359del	NM_002890.3	NP_002881.1:p.(Thr453SerfsTer8)	NC_000005.9:g.86658393_86658394del	(Likely) pathogenic	1 lab	5692065256
3:126736659 PLXNA1 C>T	3	126736659	126736659	C	T	PLXNA1	c.3584C>T	NM_032242.4	NP_115618.3:p.(Thr1195Ile)	NC_000003.11:g.126736659C>T	VUS	1 lab	56927d084e
19:38897643 FAM98C C>T	19	38897643	38897643	C	T	FAM98C	c.844C>T	NM_174905.4	NP_777565.3:p.(Arg282Ter)	NC_000019.9:g.38897643C>T	VUS	1 lab	569460049f
17:79826266 ARHGDIA C>T	17	79826266	79826266	C	T	ARHGDIA	c.989G>A	NM_001301242.2	NP_001288171.1:p.(Arg330Gln)	NC_000017.10:g.79826266C>T	(Likely) benign	1 lab	21416cabca
22:24698354 SPECC1L T>C	22	24698354	24698354	T	C	SPECC1L	c.153+2T>C	NM_015330.6	NP_056145.5:p.?	NC_000022.10:g.24698354T>C	VUS	1 lab	56950a3cee
4:170511894 NEK1 G>A	4	170511894	170511894	G	A	NEK1	c.379C>T	NM_001199397.3	NP_001186326.1:p.(Arg127Ter)	NC_000004.11:g.170511894G>A	(Likely) pathogenic	1 lab	56956644f5
16:2159670 PKD1 G>A	16	2159670	2159670	G	A	PKD1	c.5498C>T	NM_001009944.3	NP_001009944.3:p.(Thr1833Ile)	NC_000016.9:g.2159670G>A	VUS	1 lab	56957cd7b7
8:145004417 PLEC G>A	8	145004417	145004417	G	A	PLEC	c.2507C>T	NM_201384.3	NP_958786.1:p.(Pro836Leu)	NC_000008.10:g.145004417G>A	VUS	1 lab	56966d2d42
2:70463272 TIA1 G>C	2	70463272	70463272	G	C	TIA1	c.62C>G	NM_022173.4	NP_071505.2:p.(Ala21Gly)	NC_000002.11:g.70463272G>C	(Likely) benign	1 lab	56983168a9
16:1841296 IGFALS G>A	16	1841296	1841296	G	A	IGFALS	c.1123C>T	NM_004970.3	NP_004961.1:p.(Arg375Trp)	NC_000016.9:g.1841296G>A	VUS	1 lab	56e11804ec
11:6655359 DCHS1 G>C	11	6655359	6655359	G	C	DCHS1	c.1976C>G	NM_003737.4	NP_003728.1:p.(Ala659Gly)	NC_000011.9:g.6655359G>C	VUS	1 lab	56998cf4e6
1:64089213 PGM1 GCTCC>G	1	64089213	64089219	GCTCC	G	PGM1	c.247-5880_247-5877del	NM_002633.3	NP_002624.2:p.?	NC_000001.10:g.64089216_64089219del	VUS	1 lab	5699b5b414
12:50479165 SMARCD1 G>A	12	50479165	50479165	G	A	SMARCD1	c.13G>A	NM_003076.5	NP_003067.3:p.(Ala5Thr)	NC_000012.11:g.50479165G>A	(Likely) benign	1 lab	569a8edc8b
14:57740964 AP5M1 G>A	14	57740964	57740964	G	A	AP5M1	c.77G>A	NM_018229.4	NP_060699.3:p.(Arg26Gln)	NC_000014.8:g.57740964G>A	(Likely) benign	1 lab	569b44d1ba
9:131708250 DOLK G>T	9	131708250	131708250	G	T	DOLK	c.1333C>A	NM_014908.4	NP_055723.1:p.(Leu445Met)	NC_000009.11:g.131708250G>T	VUS	1 lab	569ca17ab0
6:31627667 C6orf47 T>C	6	31627667	31627667	T	C	C6orf47	c.58A>G	NM_021184.4	NP_067007.3:p.(Met20Val)	NC_000006.11:g.31627667T>C	VUS	1 lab	569cb4926a
1:200550380 KIF14 T>C	1	200550380	200550380	T	C	KIF14	c.3284A>G	NM_014875.3	NP_055690.1:p.(Gln1095Arg)	NC_000001.10:g.200550380T>C	VUS	1 lab	569d9edd7b
9:95477489 BICD2 C>T	9	95477489	95477489	C	T	BICD2	c.2515G>A	NM_001003800.2	NP_001003800.1:p.(Gly839Arg)	NC_000009.11:g.95477489C>T	VUS	1 lab	569e50c9b3
17:48264845 COL1A1 T>G	17	48264845	48264845	T	G	COL1A1	c.3423A>C	NM_000088.4	NP_000079.2:p.(Arg1141=)	NC_000017.10:g.48264845T>G	(Likely) benign	1 lab	56a14a5f0e
6:110064332 FIG4 T>C	6	110064332	110064332	T	C	FIG4	c.896T>C	NM_014845.6	NP_055660.1:p.(Val299Ala)	NC_000006.11:g.110064332T>C	VUS	1 lab	56a1c647d6
8:145738395 RECQL4 G>A	8	145738395	145738395	G	A	RECQL4	c.2590C>T	NM_004260.4	NP_004251.4:p.(Gln864Ter)	NC_000008.10:g.145738395G>A	VUS	1 lab	56a33573b5
11:17452423 ABCC8 G>T	11	17452423	17452423	G	T	ABCC8	c.1755C>A	NM_000352.6	NP_000343.2:p.(Ile585=)	NC_000011.9:g.17452423G>T	(Likely) benign	1 lab	56a4628a8c
5:176308303 HK3 C>T	5	176308303	176308303	C	T	HK3	c.2627G>A	NM_002115.3	NP_002106.2:p.(Arg876His)	NC_000005.9:g.176308303C>T	(Likely) benign	1 lab	56a631061d
9:137004901 WDR5 A>G	9	137004901	137004901	A	G	WDR5	c.-58-41A>G	NM_017588.3	NP_060058.1:p.?	NC_000009.11:g.137004901A>G	(Likely) benign	1 lab	56a6aa9a9d
7:77648745 MAGI2 G>C	7	77648745	77648745	G	C	MAGI2	c.4255C>G	NM_012301.4	NP_036433.2:p.(Pro1419Ala)	NC_000007.13:g.77648745G>C	VUS	1 lab	56a90a1201
16:88800951 PIEZO1 G>A	16	88800951	88800951	G	A	PIEZO1	c.1998-5C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88800951G>A	(Likely) benign	1 lab	56a96e21e3
X:13771568 OFD1 T>A	X	13771568	13771568	T	A	OFD1	c.1129+8T>A	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13771568T>A	(Likely) benign	1 lab	56aa74bad9
16:57693461 ADGRG1 T>C	16	57693461	57693461	T	C	ADGRG1	c.1423T>C	NM_201525.4	NP_958933.1:p.(Phe475Leu)	NC_000016.9:g.57693461T>C	(Likely) benign	1 lab	56ac143a24
4:1980558 NSD2 G>GC	4	1980558	1980566	G	GC	NSD2	c.4028dup	NM_001042424.3	NP_001035889.1:p.(Glu1344ArgfsTer91)	NC_000004.11:g.1980566dup	(Likely) benign	1 lab	56ac6b4f67
8:11566436 GATA4 C>A	8	11566436	11566436	C	A	GATA4	c.615C>A	NM_001308093.3	NP_001295022.1:p.(Leu205=)	NC_000008.10:g.11566436C>A	(Likely) benign	1 lab	56af475cff
13:110857713 COL4A1 C>T	13	110857713	110857713	C	T	COL4A1	c.944G>A	NM_001845.6	NP_001836.3:p.(Arg315His)	NC_000013.10:g.110857713C>T	(Likely) benign	1 lab	56b1e028f7
4:77134572 SCARB2 C>T	4	77134572	77134572	C	T	SCARB2	c.117+8G>A	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77134572C>T	(Likely) benign	1 lab	2142289091
12:106770182 POLR3B A>C	12	106770182	106770182	A	C	POLR3B	c.450A>C	NM_018082.6	NP_060552.4:p.(Lys150Asn)	NC_000012.11:g.106770182A>C	(Likely) benign	1 lab	56b276bc7c
2:15358890 NBAS C>T	2	15358890	15358890	C	T	NBAS	c.6432+7G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15358890C>T	(Likely) benign	1 lab	56b2cb8017
11:103025465 DYNC2H1 A>G	11	103025465	103025465	A	G	DYNC2H1	c.3500A>G	NM_001377.3	NP_001368.2:p.(His1167Arg)	NC_000011.9:g.103025465A>G	(Likely) benign	1 lab	56b3363633
12:121426836 HNF1A G>A	12	121426836	121426836	G	A	HNF1A	c.526+1G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426836G>A	(Likely) pathogenic	1 lab	56b4790c69
16:21991998 UQCRC2 G>A	16	21991998	21991998	G	A	UQCRC2	c.1255G>A	NM_003366.4	NP_003357.2:p.(Val419Met)	NC_000016.9:g.21991998G>A	VUS	1 lab	56b4c2511d
10:61932747 ANK3 T>C	10	61932747	61932747	T	C	ANK3	c.2293A>G	NM_020987.5	NP_066267.2:p.(Thr765Ala)	NC_000010.10:g.61932747T>C	VUS	1 lab	56b5139d41
11:17417147 ABCC8 TG>T	11	17417147	17417151	TG	T	ABCC8	c.4307+9del	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17417151del	VUS	1 lab	56b5a7ad43
18:46860183 DYM T>C	18	46860183	46860183	T	C	DYM	c.535A>G	NM_001353214.3	NP_001340143.1:p.(Met179Val)	NC_000018.9:g.46860183T>C	VUS	1 lab	56b6645e87
14:77492175 IRF2BPL C>T	14	77492175	77492175	C	T	IRF2BPL	c.1961G>A	NM_024496.4	NP_078772.1:p.(Arg654Gln)	NC_000014.8:g.77492175C>T	VUS	1 lab	56b676e911
2:241664715 KIF1A C>T	2	241664715	241664715	C	T	KIF1A	c.4229G>A	NM_001244008.2	NP_001230937.1:p.(Gly1410Asp)	NC_000002.11:g.241664715C>T	VUS	1 lab	56b80f58b8
1:22207214 HSPG2 G>A	1	22207214	22207214	G	A	HSPG2	c.1933C>T	NM_005529.7	NP_005520.4:p.(Leu645Phe)	NC_000001.10:g.22207214G>A	VUS	1 lab	56b84ac8ed
12:51739592 CELA1 G>A	12	51739592	51739592	G	A	CELA1	c.86C>T	NM_001971.6	NP_001962.3:p.(Ser29Phe)	NC_000012.11:g.51739592G>A	VUS	1 lab	56b906d1ee
15:99459291 IGF1R T>G	15	99459291	99459291	T	G	IGF1R	c.1927T>G	NM_000875.5	NP_000866.1:p.(Tyr643Asp)	NC_000015.9:g.99459291T>G	VUS	1 lab	56bbf73e7e
17:15642057 TBC1D26 G>T	17	15642057	15642057	G	T	TBC1D26	c.410G>T	NM_001388465.1	NP_001375394.1:p.(Arg137Met)	NC_000017.10:g.15642057G>T	(Likely) benign	1 lab	56bca341f4
4:82095941 PRKG2 A>G	4	82095941	82095941	A	G	PRKG2	c.628+6T>C	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82095941A>G	(Likely) benign	1 lab	56bd1c5373
20:50408715 SALL4 T>C	20	50408715	50408715	T	C	SALL4	c.307A>G	NM_020436.5	NP_065169.1:p.(Met103Val)	NC_000020.10:g.50408715T>C	(Likely) benign	1 lab	56bda868bb
2:233398816 CHRND A>G	2	233398816	233398816	A	G	CHRND	c.1223A>G	NM_000751.3	NP_000742.1:p.(His408Arg)	NC_000002.11:g.233398816A>G	VUS	1 lab	56bfb47d4a
2:29445473 ALK C>A	2	29445473	29445473	C	A	ALK	c.3360G>T	NM_004304.5	NP_004295.2:p.(Arg1120=)	NC_000002.11:g.29445473C>A	(Likely) benign	1 lab	56c01796d9
19:1053783 ABCA7 C>T	19	1053783	1053783	C	T	ABCA7	c.3424-4C>T	NM_019112.4	NP_061985.2:p.?	NC_000019.9:g.1053783C>T	(Likely) benign	1 lab	56c0e0d735
20:485776 CSNK2A1 C>G	20	485776	485776	C	G	CSNK2A1	c.199G>C	NM_177559.3	NP_808227.1:p.(Val67Leu)	NC_000020.10:g.485776C>G	VUS	1 lab	56c0e6b235
7:6442167 RAC1 A>ACC	7	6442167	6442168	A	ACC	RAC1	c.*90_*91insCC	NM_006908.5	NP_008839.2:p.?	NC_000007.13:g.6442167_6442168insCC	VUS	1 lab	56c29f626f
2:114257354 FOXD4L1 A>G	2	114257354	114257354	A	G	FOXD4L1	c.521A>G	NM_012184.5	NP_036316.1:p.(His174Arg)	NC_000002.11:g.114257354A>G	VUS	1 lab	56c2f78efc
17:25919572 KSR1 G>T	17	25919572	25919572	G	T	KSR1	c.1219G>T	NM_001394583.1	NP_001381512.1:p.(Val407Phe)	NC_000017.10:g.25919572G>T	VUS	1 lab	56c39b1b10
5:127664405 FBN2 T>C	5	127664405	127664405	T	C	FBN2	c.4454A>G	NM_001999.4	NP_001990.2:p.(Asp1485Gly)	NC_000005.9:g.127664405T>C	(Likely) benign	1 lab	56c40cb94e
19:13411370 CACNA1A A>G	19	13411370	13411370	A	G	CACNA1A	c.2273T>C	NM_001127222.2	NP_001120694.1:p.(Ile758Thr)	NC_000019.9:g.13411370A>G	VUS	1 lab	56c632bb0c
X:22263520 PHEX AG>A	X	22263520	22263521	AG	A	PHEX	c.2142del	NM_000444.6	NP_000435.3:p.(Gln714HisfsTer26)	NC_000023.10:g.22263521del	(Likely) pathogenic	1 lab	56c6406416
2:99172077 INPP4A TGCTGCAGAAGGAGCG>T	2	99172077	99172098	TGCTGCAGAAGGAGCG	T	INPP4A	c.1635_1649del	NM_001134225.2	NP_001127697.1:p.(Gln545_Leu549del)	NC_000002.11:g.99172084_99172098del	(Likely) benign	1 lab	56c648014a
14:21853951 CHD8 T>C	14	21853951	21853951	T	C	CHD8	c.7567A>G	NM_001170629.2	NP_001164100.1:p.(Thr2523Ala)	NC_000014.8:g.21853951T>C	(Likely) benign	1 lab	56c85cad1e
7:33217088 BBS9 A>T	7	33217088	33217088	A	T	BBS9	c.329-2A>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217088A>T	(Likely) benign	1 lab	56c882f1af
16:86601565 FOXC2 G>A	16	86601565	86601565	G	A	FOXC2	c.624G>A	NM_005251.3	NP_005242.1:p.(Glu208=)	NC_000016.9:g.86601565G>A	(Likely) benign	1 lab	21433198a8
12:133252377 POLE G>T	12	133252377	133252377	G	T	POLE	c.1050C>A	NM_006231.4	NP_006222.2:p.(His350Gln)	NC_000012.11:g.133252377G>T	VUS	1 lab	207c361611
3:46944251 PTH1R G>A	3	46944251	46944251	G	A	PTH1R	c.1366G>A	NM_000316.3	NP_000307.1:p.(Ala456Thr)	NC_000003.11:g.46944251G>A	VUS	1 lab	56cc8c92d2
11:58892015 FAM111B T>C	11	58892015	58892015	T	C	FAM111B	c.445T>C	NM_198947.4	NP_945185.1:p.(Cys149Arg)	NC_000011.9:g.58892015T>C	(Likely) benign	1 lab	56ccd03aaa
18:31319095 ASXL3 C>T	18	31319095	31319095	C	T	ASXL3	c.1727C>T	NM_030632.3	NP_085135.1:p.(Ser576Leu)	NC_000018.9:g.31319095C>T	(Likely) benign	1 lab	56cd9dd3b5
10:129901853 MKI67 C>T	10	129901853	129901853	C	T	MKI67	c.8251G>A	NM_002417.5	NP_002408.3:p.(Asp2751Asn)	NC_000010.10:g.129901853C>T	(Likely) benign	1 lab	56ce4c1729
19:17692188 COLGALT1 C>T	19	17692188	17692188	C	T	COLGALT1	c.1804C>T	NM_024656.4	NP_078932.2:p.(Arg602Cys)	NC_000019.9:g.17692188C>T	VUS	1 lab	56cf327315
2:210658502 UNC80 T>C	2	210658502	210658502	T	C	UNC80	c.857T>C	NM_001371986.1	NP_001358915.1:p.(Ile286Thr)	NC_000002.11:g.210658502T>C	(Likely) benign	1 lab	56d052f368
7:69696746 AUTS2 G>T	7	69696746	69696746	G	T	AUTS2	c.660+97189G>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69696746G>T	(Likely) benign	1 lab	56d13e75a4
15:99511411 MISSING C>T	15	99511411	99511411	C	T	MISSING				NC_000015.9:g.99511411C>T	(Likely) benign	1 lab	56d2bfe306
14:23899877 MYH7 G>A	14	23899877	23899877	G	A	MYH7	c.896-5C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23899877G>A	(Likely) benign	1 lab	56d43bf77e
X:49072938 CACNA1F C>T	X	49072938	49072938	C	T	CACNA1F	c.3140G>A	NM_001256789.3	NP_001243718.1:p.(Arg1047Gln)	NC_000023.10:g.49072938C>T	(Likely) benign	1 lab	56d4e313f5
15:25654340 UBE3A G>A	15	25654340	25654340	G	A	UBE3A	c.-357C>T	NM_001354543.2	NP_001341472.1:p.?	NC_000015.9:g.25654340G>A	VUS	1 lab	207cad4408
16:2156307 PKD1 T>A	16	2156307	2156307	T	A	PKD1	c.7490-2A>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2156307T>A	(Likely) pathogenic	1 lab	56d56d15ad
17:65962689 BPTF C>T	17	65962689	65962689	C	T	BPTF	c.8456C>T	NM_182641.4	NP_872579.2:p.(Ala2819Val)	NC_000017.10:g.65962689C>T	VUS	1 lab	56d58df087
15:57554413 TCF12 A>G	15	57554413	57554413	A	G	TCF12	c.1582+7A>G	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57554413A>G	(Likely) benign	1 lab	56d72fc75c
17:59534937 TBX4 C>T	17	59534937	59534937	C	T	TBX4	c.226C>T	NM_018488.3	NP_060958.2:p.(Leu76Phe)	NC_000017.10:g.59534937C>T	VUS	1 lab	207cd721d2
7:98579398 TRRAP G>A	7	98579398	98579398	G	A	TRRAP	c.8641G>A	NM_001375524.1	NP_001362453.1:p.(Val2881Met)	NC_000007.13:g.98579398G>A	VUS	1 lab	56daee018a
16:2156627 PKD1 T>G	16	2156627	2156627	T	G	PKD1	c.7261A>C	NM_001009944.3	NP_001009944.3:p.(Thr2421Pro)	NC_000016.9:g.2156627T>G	VUS	1 lab	56dbcd3587
12:105558017 WASHC4 G>A	12	105558017	105558017	G	A	WASHC4	c.3286G>A	NM_015275.3	NP_056090.1:p.(Ala1096Thr)	NC_000012.11:g.105558017G>A	VUS	1 lab	56de5e9d84
3:180379734 CCDC39 T>C	3	180379734	180379734	T	C	CCDC39	c.272A>G	NM_181426.2	NP_852091.1:p.(Gln91Arg)	NC_000003.11:g.180379734T>C	(Likely) benign	1 lab	56df9a00cf
1:120299990 HMGCS2 C>A	1	120299990	120299990	C	A	HMGCS2	c.922G>T	NM_005518.4	NP_005509.1:p.(Val308Phe)	NC_000001.10:g.120299990C>A	VUS	1 lab	56dfbee9a3
19:30193867 C19orf12 GC>G	19	30193867	30193873	GC	G	C19orf12	c.177del	NM_031448.6	NP_113636.2:p.(Leu60CysfsTer2)	NC_000019.9:g.30193873del	(Likely) pathogenic	1 lab	2080359d4e
16:89346991 ANKRD11 ATC>A	16	89346991	89346996	ATC	A	ANKRD11	c.5957_5958del	NM_013275.6	NP_037407.4:p.(Arg1986IlefsTer45)	NC_000016.9:g.89346995_89346996del	(Likely) pathogenic	1 lab	56e24f7d52
6:35050531 ANKS1A G>T	6	35050531	35050531	G	T	ANKS1A	c.2773G>T	NM_015245.3	NP_056060.2:p.(Val925Leu)	NC_000006.11:g.35050531G>T	VUS	1 lab	56e42d408e
4:998080 IDUA C>G	4	998080	998080	C	G	IDUA	c.1861C>G	NM_000203.5	NP_000194.2:p.(Arg621Gly)	NC_000004.11:g.998080C>G	VUS	1 lab	56e548317f
2:238647865 LRRFIP1 G>A	2	238647865	238647865	G	A	LRRFIP1	c.556-10G>A	NM_001137550.2	NP_001131022.1:p.?	NC_000002.11:g.238647865G>A	(Likely) benign	1 lab	56e958ac3b
10:47668551 ANTXRL A>ACACTCT	10	47668551	47668559	A	ACACTCT	ANTXRL	c.575_580dup	NM_001278688.3	NP_001265617.1:p.(Thr192_Leu193dup)	NC_000010.10:g.47668554_47668559dup	VUS	1 lab	56e977bb33
2:166930049 SCN1A C>T	2	166930049	166930049	C	T	SCN1A	c.83G>A	NM_001165963.4	NP_001159435.1:p.(Arg28His)	NC_000002.11:g.166930049C>T	VUS	1 lab	56e9b55cb1
10:120934077 PRDX3 G>C	10	120934077	120934077	G	C	PRDX3	c.197C>G	NM_006793.5	NP_006784.1:p.(Thr66Ser)	NC_000010.10:g.120934077G>C	(Likely) benign	1 lab	56eab159ee
2:1652782 PXDN G>A	2	1652782	1652782	G	A	PXDN	c.2770C>T	NM_012293.3	NP_036425.1:p.(Arg924Cys)	NC_000002.11:g.1652782G>A	VUS	1 lab	56ebc21444
5:140725143 PCDHGA1 T>A	5	140725143	140725143	T	A	PCDHGA1	c.2421+12471T>A	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140725143T>A	VUS	1 lab	56ed00b207
11:117860257 IL10RA C>T	11	117860257	117860257	C	T	IL10RA	c.289C>T	NM_001558.3	NP_001549.2:p.(Arg97Trp)	NC_000011.9:g.117860257C>T	(Likely) benign	1 lab	2146e2cc4f
X:114357331 LRCH2 G>A	X	114357331	114357331	G	A	LRCH2	c.2092C>T	NM_020871.4	NP_065922.3:p.(Pro698Ser)	NC_000023.10:g.114357331G>A	(Likely) benign	1 lab	56edb439d3
2:233398720 CHRND G>A	2	233398720	233398720	G	A	CHRND	c.1127G>A	NM_000751.3	NP_000742.1:p.(Arg376Gln)	NC_000002.11:g.233398720G>A	VUS	1 lab	56edcfe7b4
5:112175737 APC TC>T	5	112175737	112175739	TC	T	APC	c.4448del	NM_000038.6	NP_000029.2:p.(Pro1483GlnfsTer24)	NC_000005.9:g.112175739del	(Likely) pathogenic	1 lab	56f43de3f5
2:220078226 ABCB6 T>G	2	220078226	220078226	T	G	ABCB6	c.1656-2A>C	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220078226T>G	VUS	1 lab	56f4ae5273
X:8138165 VCX2 C>CCTCGCTCTCCTGACTCAGTGGTTCCTCCAG	X	8138165	8138184	C	CCTCGCTCTCCTGACTCAGTGGTTCCTCCAG	VCX2	c.327_328insCTGGAGGAACCACTGAGTCAGGAGAGCGAG	NM_016378.3	NP_057462.2:p.(Glu109_Val110insLeuGluGluProLeuSerGlnGluSerGlu)	NC_000023.10:g.8138183_8138184insTGGTTCCTCCAGCTCGCTCTCCTGACTCAG	(Likely) benign	1 lab	56f5df0bc5
12:52965168 KRT74 T>G	12	52965168	52965168	T	G	KRT74	c.818A>C	NM_175053.4	NP_778223.2:p.(Lys273Thr)	NC_000012.11:g.52965168T>G	VUS	1 lab	56f6677245
1:55317976 DHCR24 C>T	1	55317976	55317976	C	T	DHCR24	c.1481G>A	NM_014762.4	NP_055577.1:p.(Arg494Gln)	NC_000001.10:g.55317976C>T	VUS	1 lab	56f71bab30
2:179664376 TTN T>C	2	179664376	179664376	T	C	TTN	c.752A>G	NM_001267550.2	NP_001254479.2:p.(His251Arg)	NC_000002.11:g.179664376T>C	VUS	1 lab	56f8df4504
22:29092977 CHEK2 T>C	22	29092977	29092977	T	C	CHEK2	c.1009-2A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29092977T>C	(Likely) pathogenic	1 lab	56f8ef8a42
17:48252754 SGCA C>T	17	48252754	48252754	C	T	SGCA	c.1120C>T	NM_000023.4	NP_000014.1:p.(Arg374Cys)	NC_000017.10:g.48252754C>T	(Likely) benign	1 lab	56fbb89762
X:120009443 CT47B1 C>T	X	120009443	120009443	C	T	CT47B1	c.82G>A	NM_001145718.3	NP_001139190.1:p.(Ala28Thr)	NC_000023.10:g.120009443C>T	(Likely) benign	1 lab	56fe1239e5
2:216298048 FN1 T>C	2	216298048	216298048	T	C	FN1	c.414A>G	NM_212482.4	NP_997647.2:p.(Ala138=)	NC_000002.11:g.216298048T>C	VUS	1 lab	56feb06f92
6:53139880 ELOVL5 A>G	6	53139880	53139880	A	G	ELOVL5	c.496+8T>C	NM_021814.5	NP_068586.1:p.?	NC_000006.11:g.53139880A>G	(Likely) benign	1 lab	56feb1eb5b
1:11194457 MTOR C>T	1	11194457	11194457	C	T	MTOR	c.5197G>A	NM_004958.4	NP_004949.1:p.(Ala1733Thr)	NC_000001.10:g.11194457C>T	(Likely) benign	1 lab	570029706b
9:136227303 SURF2 G>A	9	136227303	136227303	G	A	SURF2	c.680G>A	NM_017503.5	NP_059973.4:p.(Arg227His)	NC_000009.11:g.136227303G>A	VUS	1 lab	57012b27ba
2:240002860 HDAC4 T>C	2	240002860	240002860	T	C	HDAC4	c.2681A>G	NM_001378414.1	NP_001365343.1:p.(Asn894Ser)	NC_000002.11:g.240002860T>C	VUS	1 lab	5702672481
14:74969548 LTBP2 C>A	14	74969548	74969548	C	A	LTBP2	c.4978G>T	NM_000428.3	NP_000419.1:p.(Gly1660Trp)	NC_000014.8:g.74969548C>A	(Likely) benign	1 lab	57028de727
7:73790787 CLIP2 C>T	7	73790787	73790787	C	T	CLIP2	c.2056C>T	NM_003388.5	NP_003379.4:p.(Arg686Ter)	NC_000007.13:g.73790787C>T	VUS	1 lab	5704ab0164
1:7723626 CAMTA1 G>A	1	7723626	7723626	G	A	CAMTA1	c.1019G>A	NM_015215.4	NP_056030.1:p.(Ser340Asn)	NC_000001.10:g.7723626G>A	VUS	1 lab	570505ce0d
5:52394388 MOCS2 T>G	5	52394388	52394388	T	G	MOCS2	c.*531A>C	NM_176806.4	NP_789776.1:p.?	NC_000005.9:g.52394388T>G	(Likely) benign	1 lab	20820f748b
X:150791523 PASD1 C>T	X	150791523	150791523	C	T	PASD1	c.533C>T	NM_173493.3	NP_775764.2:p.(Thr178Ile)	NC_000023.10:g.150791523C>T	VUS	1 lab	5705fe383c
X:106117104 TBC1D8B C>A	X	106117104	106117104	C	A	TBC1D8B	c.3272C>A	NM_017752.3	NP_060222.2:p.(Ala1091Glu)	NC_000023.10:g.106117104C>A	(Likely) benign	1 lab	5706b4847d
17:36093636 HNF1B C>T	17	36093636	36093636	C	T	HNF1B	c.723G>A	NM_000458.4	NP_000449.1:p.(Ala241=)	NC_000017.10:g.36093636C>T	(Likely) benign	1 lab	5707d6bdeb
9:140069452 ANAPC2 C>T	9	140069452	140069452	C	T	ANAPC2	c.2411G>A	NM_013366.4	NP_037498.1:p.(Arg804Gln)	NC_000009.11:g.140069452C>T	VUS	1 lab	5707e5c627
3:122255010 PARP9 C>A	3	122255010	122255010	C	A	PARP9	c.2080+5G>T	NM_001146105.2	NP_001139577.1:p.?	NC_000003.11:g.122255010C>A	VUS	1 lab	57083bb363
4:6302580 WFS1 CCTT>C	4	6302580	6302584	CCTT	C	WFS1	c.1060_1062del	NM_006005.3	NP_005996.2:p.(Phe354del)	NC_000004.11:g.6302582_6302584del	(Likely) pathogenic	1 lab	570898951b
9:40774255 ZNF658 A>C	9	40774255	40774255	A	C	ZNF658	c.1020T>G	NM_033160.7	NP_149350.3:p.(His340Gln)	NC_000009.11:g.40774255A>C	(Likely) benign	1 lab	5709538357
14:105614701 JAG2 G>A	14	105614701	105614701	G	A	JAG2	c.2096C>T	NM_002226.5	NP_002217.3:p.(Ala699Val)	NC_000014.8:g.105614701G>A	(Likely) benign	1 lab	570aa755f9
17:73727971 ITGB4 G>A	17	73727971	73727971	G	A	ITGB4	c.1294G>A	NM_000213.5	NP_000204.3:p.(Gly432Ser)	NC_000017.10:g.73727971G>A	VUS	1 lab	570abad41e
9:98268854 PTCH1 G>C	9	98268854	98268854	G	C	PTCH1	c.229C>G	NM_000264.5	NP_000255.2:p.(Leu77Val)	NC_000009.11:g.98268854G>C	VUS	1 lab	570b8c3b77
1:6184727 CHD5 G>GT	1	6184727	6184728	G	GT	CHD5	c.4395-7dup	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6184728dup	(Likely) benign	1 lab	570bb094e2
X:130416693 IGSF1 C>A	X	130416693	130416693	C	A	IGSF1	c.971G>T	NM_001555.5	NP_001546.2:p.(Trp324Leu)	NC_000023.10:g.130416693C>A	VUS	1 lab	570c366c6e
11:77090979 PAK1 G>A	11	77090979	77090979	G	A	PAK1	c.251C>T	NM_002576.5	NP_002567.3:p.(Thr84Ile)	NC_000011.9:g.77090979G>A	(Likely) pathogenic	1 lab	570c999b5b
14:68060533 PIGH G>A	14	68060533	68060533	G	A	PIGH	c.317C>T	NM_004569.5	NP_004560.1:p.(Ser106Leu)	NC_000014.8:g.68060533G>A	(Likely) benign	1 lab	570cb4a835
21:38858926 DYRK1A C>A	21	38858926	38858926	C	A	DYRK1A	c.637+10C>A	NM_130436.2	NP_569120.1:p.?	NC_000021.8:g.38858926C>A	(Likely) benign	1 lab	208624cb02
9:34658621 IL11RA C>T	9	34658621	34658621	C	T	IL11RA	c.751C>T	NM_001142784.3	NP_001136256.1:p.(His251Tyr)	NC_000009.11:g.34658621C>T	(Likely) benign	1 lab	571114a116
19:11312632 DOCK6 G>C	19	11312632	11312632	G	C	DOCK6	c.5621C>G	NM_020812.4	NP_065863.2:p.(Thr1874Arg)	NC_000019.9:g.11312632G>C	VUS	1 lab	5713ed6338
X:100364893 CENPI G>A	X	100364893	100364893	G	A	CENPI	c.497G>A	NM_001386188.2	NP_001373117.1:p.(Arg166His)	NC_000023.10:g.100364893G>A	(Likely) benign	1 lab	5716883ca4
5:154305423 GEMIN5 G>A	5	154305423	154305423	G	A	GEMIN5	c.1292C>T	NM_015465.5	NP_056280.2:p.(Ala431Val)	NC_000005.9:g.154305423G>A	VUS	1 lab	5718d7c73c
5:14509809 TRIO G>A	5	14509809	14509809	G	A	TRIO	c.*1278G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14509809G>A	VUS	1 lab	57c98635dc
9:131337494 SPTAN1 C>T	9	131337494	131337494	C	T	SPTAN1	c.521C>T	NM_001130438.3	NP_001123910.1:p.(Ser174Phe)	NC_000009.11:g.131337494C>T	VUS	1 lab	57195293c2
17:40379661 STAT5B G>A	17	40379661	40379661	G	A	STAT5B	c.171C>T	NM_012448.4	NP_036580.2:p.(Ala57=)	NC_000017.10:g.40379661G>A	(Likely) benign	1 lab	5719863a33
3:142215361 ATR G>A	3	142215361	142215361	G	A	ATR	c.5740C>T	NM_001184.4	NP_001175.2:p.(Pro1914Ser)	NC_000003.11:g.142215361G>A	(Likely) benign	1 lab	571b8083d3
11:551283 LRRC56 C>T	11	551283	551283	C	T	LRRC56	c.777C>T	NM_198075.4	NP_932341.1:p.(Gly259=)	NC_000011.9:g.551283C>T	(Likely) benign	1 lab	571ba44cab
3:38519993 ACVR2B A>G	3	38519993	38519993	A	G	ACVR2B	c.650A>G	NM_001106.4	NP_001097.2:p.(Lys217Arg)	NC_000003.11:g.38519993A>G	VUS	1 lab	571c9bc551
12:53495878 IGFBP6 G>A	12	53495878	53495878	G	A	IGFBP6	c.650G>A	NM_002178.3	NP_002169.1:p.(Arg217Gln)	NC_000012.11:g.53495878G>A	VUS	1 lab	571cff2e01
14:31611115 HECTD1 T>TA	14	31611115	31611116	T	TA	HECTD1	c.2821_2822insT	NM_015382.4	NP_056197.3:p.(Glu941ValfsTer7)	NC_000014.8:g.31611115_31611116insA	VUS	1 lab	571ffb2189
1:6206768 CHD5 G>A	1	6206768	6206768	G	A	CHD5	c.1547C>T	NM_015557.3	NP_056372.1:p.(Ala516Val)	NC_000001.10:g.6206768G>A	(Likely) benign	1 lab	5723065fc8
9:90534190 SPATA31C1 TCATCTTGTCTC>T	9	90534190	90534202	TCATCTTGTCTC	T	SPATA31C1	c.212_222del	NM_001145124.1	NP_001138596.1:p.(His71ProfsTer23)	NC_000009.11:g.90534192_90534202del	VUS	1 lab	57250a06df
6:51732818 PKHD1 C>T	6	51732818	51732818	C	T	PKHD1	c.7576G>A	NM_138694.4	NP_619639.3:p.(Asp2526Asn)	NC_000006.11:g.51732818C>T	VUS	1 lab	57253fab7a
8:1626720 DLGAP2 G>A	8	1626720	1626720	G	A	DLGAP2	c.2629G>A	NM_001346810.2	NP_001333739.1:p.(Ala877Thr)	NC_000008.10:g.1626720G>A	(Likely) benign	1 lab	57258b15c7
16:8941639 PMM2 C>T	16	8941639	8941639	C	T	PMM2	c.698C>T	NM_000303.3	NP_000294.1:p.(Ala233Val)	NC_000016.9:g.8941639C>T	VUS	1 lab	57259963eb
18:10705730 PIEZO2 C>T	18	10705730	10705730	C	T	PIEZO2	c.5603G>A	NM_001378183.1	NP_001365112.1:p.(Cys1868Tyr)	NC_000018.9:g.10705730C>T	(Likely) benign	1 lab	572622ee33
2:27430474 SLC5A6 C>T	2	27430474	27430474	C	T	SLC5A6	c.45G>A	NM_021095.4	NP_066918.2:p.(Ser15=)	NC_000002.11:g.27430474C>T	VUS	1 lab	580da522a4
6:117245935 RFX6 C>G	6	117245935	117245935	C	G	RFX6	c.1659C>G	NM_173560.4	NP_775831.2:p.(Asp553Glu)	NC_000006.11:g.117245935C>G	(Likely) benign	1 lab	5727d2a9ca
9:130605351 ENG G>A	9	130605351	130605351	G	A	ENG	c.219+22C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130605351G>A	(Likely) benign	1 lab	20869bf26c
12:52960757 KRT74 C>T	12	52960757	52960757	C	T	KRT74	c.1586G>A	NM_175053.4	NP_778223.2:p.(Arg529His)	NC_000012.11:g.52960757C>T	VUS	1 lab	5728225335
11:64480796 NRXN2 G>C	11	64480796	64480796	G	C	NRXN2	c.376C>G	NM_015080.4	NP_055895.1:p.(Leu126Val)	NC_000011.9:g.64480796G>C	VUS	1 lab	5728296750
8:145738286 RECQL4 T>C	8	145738286	145738286	T	C	RECQL4	c.2699A>G	NM_004260.4	NP_004251.4:p.(His900Arg)	NC_000008.10:g.145738286T>C	VUS	1 lab	572836cf6a
15:89399053 ACAN C>T	15	89399053	89399053	C	T	ACAN	c.3237C>T	NM_001369268.1	NP_001356197.1:p.(Thr1079=)	NC_000015.9:g.89399053C>T	(Likely) benign	1 lab	572a15955b
4:88979227 PKD2 T>C	4	88979227	88979227	T	C	PKD2	c.1991T>C	NM_000297.4	NP_000288.1:p.(Phe664Ser)	NC_000004.11:g.88979227T>C	VUS	1 lab	572b7a2201
4:88957479 PKD2 C>CT	4	88957479	88957480	C	CT	PKD2	c.818dup	NM_000297.4	NP_000288.1:p.(Ser274ValfsTer29)	NC_000004.11:g.88957480dup	(Likely) pathogenic	1 lab	572ce8e24e
18:19751121 GATA6 G>A	18	19751121	19751121	G	A	GATA6	c.16G>A	NM_005257.6	NP_005248.2:p.(Gly6Ser)	NC_000018.9:g.19751121G>A	(Likely) benign	1 lab	572e20e0c1
16:2135251 TSC2 G>T	16	2135251	2135251	G	T	TSC2	c.4590G>T	NM_000548.5	NP_000539.2:p.(Ser1530=)	NC_000016.9:g.2135251G>T	(Likely) benign	1 lab	572e4d2235
8:134026001 TG G>A	8	134026001	134026001	G	A	TG	c.6554G>A	NM_003235.5	NP_003226.4:p.(Arg2185Gln)	NC_000008.10:g.134026001G>A	VUS	1 lab	572ed876ed
13:28626820 FLT3 T>A	13	28626820	28626820	T	A	FLT3	c.485-9A>T	NM_004119.3	NP_004110.2:p.?	NC_000013.10:g.28626820T>A	(Likely) benign	1 lab	573060c1c0
2:60688350 BCL11A A>C	2	60688350	60688350	A	C	BCL11A	c.1697T>G	NM_022893.4	NP_075044.2:p.(Leu566Arg)	NC_000002.11:g.60688350A>C	VUS	1 lab	20880660df
21:47783768 PCNT C>T	21	47783768	47783768	C	T	PCNT	c.2528C>T	NM_006031.6	NP_006022.3:p.(Pro843Leu)	NC_000021.8:g.47783768C>T	(Likely) benign	1 lab	5734bf15da
1:32121064 COL16A1 C>G	1	32121064	32121064	C	G	COL16A1	c.4141G>C	NM_001856.4	NP_001847.3:p.(Glu1381Gln)	NC_000001.10:g.32121064C>G	VUS	1 lab	5734f84c12
9:713155 KANK1 G>A	9	713155	713155	G	A	KANK1	c.2389G>A	NM_015158.5	NP_055973.2:p.(Val797Met)	NC_000009.11:g.713155G>A	VUS	1 lab	57360801bd
9:111670603 ELP1 TGAG>T	9	111670603	111670609	TGAG	T	ELP1	c.1439_1441del	NM_003640.5	NP_003631.2:p.(Pro480del)	NC_000009.11:g.111670607_111670609del	VUS	1 lab	5738b44fa7
2:152589665 NEB T>A	2	152589665	152589665	T	A	NEB	c.6A>T	NM_001164508.2	NP_001157980.2:p.(Ala2=)	NC_000002.11:g.152589665T>A	VUS	1 lab	573a5fb952
5:226125 SDHA G>A	5	226125	226125	G	A	SDHA	c.584G>A	NM_004168.4	NP_004159.2:p.(Arg195Gln)	NC_000005.9:g.226125G>A	VUS	1 lab	573a858c46
11:118344275 KMT2A C>T	11	118344275	118344275	C	T	KMT2A	c.2401C>T	NM_001197104.2	NP_001184033.1:p.(His801Tyr)	NC_000011.9:g.118344275C>T	(Likely) benign	1 lab	573c562a89
16:2143531 PKD1 G>A	16	2143531	2143531	G	A	PKD1	c.11016+14C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2143531G>A	(Likely) benign	1 lab	573d15c438
11:17470052 ABCC8 C>G	11	17470052	17470052	C	G	ABCC8	c.1332+11G>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17470052C>G	VUS	1 lab	573d8503ee
10:89272896 MINPP1 C>G	10	89272896	89272896	C	G	MINPP1	c.851C>G	NM_004897.5	NP_004888.2:p.(Ala284Gly)	NC_000010.10:g.89272896C>G	VUS	1 lab	573fe0c325
9:113219571 SVEP1 C>T	9	113219571	113219571	C	T	SVEP1	c.3638G>A	NM_153366.4	NP_699197.3:p.(Arg1213His)	NC_000009.11:g.113219571C>T	VUS	1 lab	573ff7f6e3
11:17408550 KCNJ11 T>C	11	17408550	17408550	T	C	KCNJ11	c.1089A>G	NM_000525.4	NP_000516.3:p.(Ser363=)	NC_000011.9:g.17408550T>C	(Likely) benign	1 lab	5741d0cfdf
9:14805068 FREM1 G>T	9	14805068	14805068	G	T	FREM1	c.3357C>A	NM_001379081.2	NP_001366010.1:p.(Asp1119Glu)	NC_000009.11:g.14805068G>T	VUS	1 lab	5742bc4d0c
1:50884536 DMRTA2 C>T	1	50884536	50884536	C	T	DMRTA2	c.1430G>A	NM_032110.3	NP_115486.1:p.(Ser477Asn)	NC_000001.10:g.50884536C>T	VUS	1 lab	574487522a
X:119293043 RHOXF2 G>A	X	119293043	119293043	G	A	RHOXF2	c.202G>A	NM_032498.3	NP_115887.1:p.(Gly68Arg)	NC_000023.10:g.119293043G>A	(Likely) benign	1 lab	5745330474
18:3450324 TGIF1 G>T	18	3450324	3450324	G	T	TGIF1	c.-164G>T	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3450324G>T	VUS	1 lab	57456b4e2b
2:166223736 SCN2A G>A	2	166223736	166223736	G	A	SCN2A	c.3530G>A	NM_001040142.2	NP_001035232.1:p.(Arg1177Gln)	NC_000002.11:g.166223736G>A	VUS	1 lab	5747271251
X:114425192 RBMXL3 G>GCCCAACGCCCACAGCGGAGGCCGCTCA	X	114425192	114425196	G	GCCCAACGCCCACAGCGGAGGCCGCTCA	RBMXL3	c.1191_1192insAACGCCCACAGCGGAGGCCGCTCACCC	NM_001145346.2	NP_001138818.1:p.(Pro397_Asp398insAsnAlaHisSerGlyGlyArgSerPro)	NC_000023.10:g.114425195_114425196insAACGCCCACAGCGGAGGCCGCTCACCC	VUS	1 lab	5749b93b81
12:57587008 LRP1 C>T	12	57587008	57587008	C	T	LRP1	c.7605C>T	NM_002332.3	NP_002323.2:p.(Gly2535=)	NC_000012.11:g.57587008C>T	VUS	1 lab	5749d7ec26
19:7117240 INSR T>G	19	7117240	7117240	T	G	INSR	c.3976A>C	NM_000208.4	NP_000199.2:p.(Asn1326His)	NC_000019.9:g.7117240T>G	(Likely) benign	1 lab	574a68ea0c
4:157997720 GLRB A>G	4	157997720	157997720	A	G	GLRB	c.-30+271A>G	NM_000824.5	NP_000815.1:p.?	NC_000004.11:g.157997720A>G	(Likely) benign	1 lab	574b6f35ba
4:111539852 PITX2 C>T	4	111539852	111539852	C	T	PITX2	c.412-8G>A	NM_000325.6	NP_000316.2:p.?	NC_000004.11:g.111539852C>T	(Likely) benign	1 lab	574ba82745
17:44248386 KANSL1 G>A	17	44248386	44248386	G	A	KANSL1	c.1124C>T	NM_001193466.2	NP_001180395.1:p.(Ser375Leu)	NC_000017.10:g.44248386G>A	(Likely) benign	1 lab	20892b1b94
15:76995294 SCAPER T>C	15	76995294	76995294	T	C	SCAPER	c.2297A>G	NM_020843.4	NP_065894.2:p.(Glu766Gly)	NC_000015.9:g.76995294T>C	VUS	1 lab	574d8cf74e
X:65247311 VSIG4 C>T	X	65247311	65247311	C	T	VSIG4	c.815G>A	NM_007268.3	NP_009199.1:p.(Gly272Glu)	NC_000023.10:g.65247311C>T	(Likely) benign	1 lab	574e49c886
22:32111425 PRR14L CAT>C	22	32111425	32111427	CAT	C	PRR14L	c.2398_2399del	NM_173566.3	NP_775837.2:p.(Met800ValfsTer17)	NC_000022.10:g.32111426_32111427del	VUS	1 lab	574ec5754e
3:114070191 ZBTB20 G>T	3	114070191	114070191	G	T	ZBTB20	c.734C>A	NM_001348800.3	NP_001335729.1:p.(Ser245Ter)	NC_000003.11:g.114070191G>T	(Likely) pathogenic	1 lab	574f373a7a
4:186384203 CCDC110 T>G	4	186384203	186384203	T	G	CCDC110	c.116A>C	NM_152775.4	NP_689988.1:p.(Glu39Ala)	NC_000004.11:g.186384203T>G	VUS	1 lab	574f6dfb55
9:14846087 FREM1 G>C	9	14846087	14846087	G	C	FREM1	c.1264C>G	NM_001379081.2	NP_001366010.1:p.(Leu422Val)	NC_000009.11:g.14846087G>C	VUS	1 lab	57502a1b16
22:40661337 TNRC6B A>G	22	40661337	40661337	A	G	TNRC6B	c.1103A>G	NM_001162501.2	NP_001155973.1:p.(His368Arg)	NC_000022.10:g.40661337A>G	(Likely) benign	1 lab	5750b8e600
17:73750841 ITGB4 A>ACACT	17	73750841	73750846	A	ACACT	ITGB4	c.4505_4508dup	NM_000213.5	NP_000204.3:p.(Thr1504LeufsTer69)	NC_000017.10:g.73750843_73750846dup	(Likely) pathogenic	1 lab	5753f3d17c
1:35453669 ZMYM6 G>A	1	35453669	35453669	G	A	ZMYM6	c.3014C>T	NM_007167.4	NP_009098.3:p.(Ala1005Val)	NC_000001.10:g.35453669G>A	(Likely) benign	1 lab	5754458944
1:235907269 LYST A>T	1	235907269	235907269	A	T	LYST	c.8151+10T>A	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235907269A>T	(Likely) benign	1 lab	575796be31
22:32269023 DEPDC5 A>G	22	32269023	32269023	A	G	DEPDC5	c.3486-218A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32269023A>G	(Likely) benign	1 lab	2147d00ba9
12:53729484 SP7 C>G	12	53729484	53729484	C	G	SP7	c.-47-7G>C	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53729484C>G	(Likely) benign	1 lab	57599937b9
1:8617534 RERE A>G	1	8617534	8617534	A	G	RERE	c.571T>C	NM_001042681.2	NP_001036146.1:p.(Ser191Pro)	NC_000001.10:g.8617534A>G	VUS	1 lab	5759c3f8ab
1:7826544 CAMTA1 G>A	1	7826544	7826544	G	A	CAMTA1	c.5015G>A	NM_015215.4	NP_056030.1:p.(Gly1672Glu)	NC_000001.10:g.7826544G>A	VUS	1 lab	575a299ec6
22:19365461 HIRA G>A	22	19365461	19365461	G	A	HIRA	c.1544C>T	NM_003325.4	NP_003316.3:p.(Ser515Leu)	NC_000022.10:g.19365461G>A	(Likely) benign	1 lab	575ce19808
22:21065135 PI4KA T>C	22	21065135	21065135	T	C	PI4KA	c.5935A>G	NM_058004.4	NP_477352.3:p.(Met1979Val)	NC_000022.10:g.21065135T>C	VUS	1 lab	575d7ffe84
15:33895406 RYR3 G>A	15	33895406	33895406	G	A	RYR3	c.2005G>A	NM_001036.6	NP_001027.3:p.(Val669Met)	NC_000015.9:g.33895406G>A	VUS	1 lab	584a875e9a
3:58139311 FLNB G>T	3	58139311	58139311	G	T	FLNB	c.6577G>T	NM_001457.4	NP_001448.2:p.(Ala2193Ser)	NC_000003.11:g.58139311G>T	VUS	1 lab	575d84ce41
1:43906177 SZT2 A>G	1	43906177	43906177	A	G	SZT2	c.7264A>G	NM_001365999.1	NP_001352928.1:p.(Thr2422Ala)	NC_000001.10:g.43906177A>G	(Likely) benign	1 lab	575d9db884
13:78492615 EDNRB G>A	13	78492615	78492615	G	A	EDNRB	c.94C>T	NM_001122659.3	NP_001116131.1:p.(Pro32Ser)	NC_000013.10:g.78492615G>A	(Likely) benign	1 lab	575e32d328
19:42873089 MEGF8 G>A	19	42873089	42873089	G	A	MEGF8	c.6576G>A	NM_001271938.2	NP_001258867.1:p.(Thr2192=)	NC_000019.9:g.42873089G>A	(Likely) benign	1 lab	57729de375
18:19024255 GREB1L C>G	18	19024255	19024255	C	G	GREB1L	c.1278C>G	NM_001142966.3	NP_001136438.1:p.(Cys426Trp)	NC_000018.9:g.19024255C>G	(Likely) benign	1 lab	5760b7e3b6
6:34725704 SNRPC C>T	6	34725704	34725704	C	T	SNRPC	c.24C>T	NM_003093.3	NP_003084.1:p.(Tyr8=)	NC_000006.11:g.34725704C>T	VUS	1 lab	5760c7d42e
4:114186125 ANK2 G>A	4	114186125	114186125	G	A	ANK2	c.1459G>A	NM_001148.6	NP_001139.3:p.(Gly487Ser)	NC_000004.11:g.114186125G>A	VUS	1 lab	57627df4dd
14:30100182 PRKD1 A>G	14	30100182	30100182	A	G	PRKD1	c.1438T>C	NM_002742.3	NP_002733.2:p.(Ser480Pro)	NC_000014.8:g.30100182A>G	VUS	1 lab	5762a8619a
8:41839423 KAT6A C>A	8	41839423	41839423	C	A	KAT6A	c.759G>T	NM_006766.5	NP_006757.2:p.(Lys253Asn)	NC_000008.10:g.41839423C>A	VUS	1 lab	576348cbcc
X:153672680 FAM50A A>G	X	153672680	153672680	A	G	FAM50A	c.98A>G	NM_004699.4	NP_004690.1:p.(Gln33Arg)	NC_000023.10:g.153672680A>G	VUS	1 lab	208e207a08
19:36227597 KMT2B C>T	19	36227597	36227597	C	T	KMT2B	c.7166C>T	NM_014727.3	NP_055542.1:p.(Ala2389Val)	NC_000019.9:g.36227597C>T	(Likely) benign	1 lab	5764411ce5
16:2162785 PKD1 TCACAGGAAGGCCACCTC>T	16	2162785	2162805	TCACAGGAAGGCCACCTC	T	PKD1	c.3148_3161+3del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2162789_2162805del	(Likely) pathogenic	1 lab	57650c3c81
X:107909753 COL4A5 G>T	X	107909753	107909753	G	T	COL4A5	c.3482G>T	NM_000495.5	NP_000486.1:p.(Gly1161Val)	NC_000023.10:g.107909753G>T	(Likely) pathogenic	1 lab	21481d5c56
17:61994842 GH1 T>G	17	61994842	61994842	T	G	GH1	c.481A>C	NM_000515.5	NP_000506.2:p.(Thr161Pro)	NC_000017.10:g.61994842T>G	(Likely) benign	1 lab	576a917eaa
X:53585989 HUWE1 G>A	X	53585989	53585989	G	A	HUWE1	c.7948C>T	NM_031407.7	NP_113584.3:p.(Arg2650Cys)	NC_000023.10:g.53585989G>A	(Likely) pathogenic	1 lab	576b603a58
16:2167831 PKD1 C>A	16	2167831	2167831	C	A	PKD1	c.1162G>T	NM_001009944.3	NP_001009944.3:p.(Ala388Ser)	NC_000016.9:g.2167831C>A	(Likely) benign	1 lab	576b862239
5:33649719 ADAMTS12 T>C	5	33649719	33649719	T	C	ADAMTS12	c.1274A>G	NM_030955.4	NP_112217.2:p.(Tyr425Cys)	NC_000005.9:g.33649719T>C	VUS	1 lab	576c794148
9:113169248 SVEP1 T>A	9	113169248	113169248	T	A	SVEP1	c.8632A>T	NM_153366.4	NP_699197.3:p.(Ser2878Cys)	NC_000009.11:g.113169248T>A	VUS	1 lab	576ddfa2cc
15:100657100 ADAMTS17 G>A	15	100657100	100657100	G	A	ADAMTS17	c.1840C>T	NM_139057.4	NP_620688.2:p.(Arg614Trp)	NC_000015.9:g.100657100G>A	(Likely) benign	1 lab	577126eddb
1:176762725 PAPPA2 C>T	1	176762725	176762725	C	T	PAPPA2	c.5050C>T	NM_020318.3	NP_064714.2:p.(Pro1684Ser)	NC_000001.10:g.176762725C>T	VUS	1 lab	577185b944
11:85438357 SYTL2 G>A	11	85438357	85438357	G	A	SYTL2	c.2044C>T	NM_206927.4	NP_996810.2:p.(Gln682Ter)	NC_000011.9:g.85438357G>A	VUS	1 lab	577425f494
8:113988225 CSMD3 G>A	8	113988225	113988225	G	A	CSMD3	c.1183C>T	NM_198123.2	NP_937756.1:p.(Arg395Ter)	NC_000008.10:g.113988225G>A	VUS	1 lab	57744680ab
2:228118975 COL4A3 G>GT	2	228118975	228118986	G	GT	COL4A3	c.828+96dup	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228118986dup	(Likely) benign	1 lab	214838b360
X:67429883 OPHN1 T>C	X	67429883	67429883	T	C	OPHN1	c.832+112A>G	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67429883T>C	(Likely) benign	1 lab	214bb73b48
1:202702711 KDM5B G>A	1	202702711	202702711	G	A	KDM5B	c.3727C>T	NM_006618.5	NP_006609.3:p.(Arg1243Ter)	NC_000001.10:g.202702711G>A	VUS	1 lab	57784530da
6:116446654 COL10A1 A>G	6	116446654	116446654	A	G	COL10A1	c.2T>C	NM_000493.4	NP_000484.2:p.(Met1?)	NC_000006.11:g.116446654A>G	VUS	1 lab	57793e4ad9
3:170715711 SLC2A2 C>T	3	170715711	170715711	C	T	SLC2A2	c.1556G>A	NM_000340.2	NP_000331.1:p.(Gly519Glu)	NC_000003.11:g.170715711C>T	VUS	1 lab	57794176d0
19:7584920 ZNF358 GT>G	19	7584920	7584921	GT	G	ZNF358	c.793del	NM_018083.5	NP_060553.4:p.(Cys265AlafsTer160)	NC_000019.9:g.7584921del	VUS	1 lab	57796a26f0
4:123855326 AFG2A C>T	4	123855326	123855326	C	T	AFG2A	c.580C>T	NM_145207.3	NP_660208.2:p.(Arg194Ter)	NC_000004.11:g.123855326C>T	(Likely) pathogenic	1 lab	577a3460bd
13:110960206 COL4A2 G>C	13	110960206	110960206	G	C	COL4A2	c.-44-1G>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.110960206G>C	VUS	1 lab	577c577209
2:105472295 POU3F3 CGCT>C	2	105472295	105472300	CGCT	C	POU3F3	c.330_332del	NM_006236.3	NP_006227.1:p.(Ala115del)	NC_000002.11:g.105472298_105472300del	(Likely) benign	1 lab	577e0d40d3
5:52942097 NDUFS4 A>G	5	52942097	52942097	A	G	NDUFS4	c.212A>G	NM_002495.4	NP_002486.1:p.(His71Arg)	NC_000005.9:g.52942097A>G	VUS	1 lab	577e2afedc
16:1464652 UNKL C>A	16	1464652	1464652	C	A	UNKL	c.41G>T	NM_001372107.1	NP_001359036.1:p.(Gly14Val)	NC_000016.9:g.1464652C>A	VUS	1 lab	5781832628
1:180235643 LHX4 G>A	1	180235643	180235643	G	A	LHX4	c.365G>A	NM_033343.4	NP_203129.1:p.(Arg122Gln)	NC_000001.10:g.180235643G>A	(Likely) benign	1 lab	5782dc4550
17:16852283 TNFRSF13B G>A	17	16852283	16852283	G	A	TNFRSF13B	c.214C>T	NM_012452.3	NP_036584.1:p.(Arg72Cys)	NC_000017.10:g.16852283G>A	(Likely) pathogenic	1 lab	5783827afb
8:17815114 PCM1 G>A	8	17815114	17815114	G	A	PCM1	c.1870G>A	NM_006197.4	NP_006188.4:p.(Glu624Lys)	NC_000008.10:g.17815114G>A	(Likely) benign	1 lab	2150fa9108
11:70332268 SHANK2 G>A	11	70332268	70332268	G	A	SHANK2	c.4130C>T	NM_012309.5	NP_036441.2:p.(Ala1377Val)	NC_000011.9:g.70332268G>A	(Likely) benign	1 lab	57847fd3e6
12:121432077 HNF1A A>T	12	121432077	121432077	A	T	HNF1A	c.824A>T	NM_000545.8	NP_000536.6:p.(Glu275Val)	NC_000012.11:g.121432077A>T	(Likely) pathogenic	1 lab	578530a58c
4:54325465 FIP1L1 C>A	4	54325465	54325465	C	A	FIP1L1	c.1638-4C>A	NM_030917.4	NP_112179.2:p.?	NC_000004.11:g.54325465C>A	(Likely) benign	1 lab	578799a855
6:32943847 BRD2 A>G	6	32943847	32943847	A	G	BRD2	c.511A>G	NM_005104.4	NP_005095.1:p.(Lys171Glu)	NC_000006.11:g.32943847A>G	(Likely) benign	1 lab	57882399bd
17:28505076 NSRP1 AT>A	17	28505076	28505085	AT	A	NSRP1	c.172-4del	NM_032141.4	NP_115517.1:p.?	NC_000017.10:g.28505085del	(Likely) benign	1 lab	5788876577
X:47082520 CDK16 A>G	X	47082520	47082520	A	G	CDK16	c.-6-431A>G	NM_006201.5	NP_006192.1:p.?	NC_000023.10:g.47082520A>G	(Likely) benign	1 lab	5789b91dd7
9:120476817 TLR4 G>A	9	120476817	120476817	G	A	TLR4				NC_000009.11:g.120476817G>A	(Likely) benign	1 lab	21ace8a013
12:2674399 CACNA1C C>T	12	2674399	2674399	C	T	CACNA1C	c.1509-1189C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2674399C>T	(Likely) benign	1 lab	578ae31848
2:44173321 LRPPRC T>C	2	44173321	44173321	T	C	LRPPRC	c.2141A>G	NM_133259.4	NP_573566.2:p.(Tyr714Cys)	NC_000002.11:g.44173321T>C	VUS	1 lab	578b6dd839
3:111264208 CD96 G>A	3	111264208	111264208	G	A	CD96	c.377G>A	NM_005816.5	NP_005807.1:p.(Gly126Asp)	NC_000003.11:g.111264208G>A	VUS	1 lab	578e517d81
X:134427670 ZNF75D C>T	X	134427670	134427670	C	T	ZNF75D	c.397G>A	NM_007131.5	NP_009062.2:p.(Gly133Arg)	NC_000023.10:g.134427670C>T	(Likely) benign	1 lab	578e8afa8f
19:54848942 LILRA4 C>G	19	54848942	54848942	C	G	LILRA4	c.681G>C	NM_012276.5	NP_036408.4:p.(Leu227=)	NC_000019.9:g.54848942C>G	VUS	1 lab	578f8372fe
20:61436214 OGFR GGAC>G	20	61436214	61436220	GGAC	G	OGFR	c.7_9del	NM_007346.4	NP_031372.2:p.(Asp3del)	NC_000020.10:g.61436218_61436220del	VUS	1 lab	5790416d1c
8:77895891 PEX2 G>C	8	77895891	77895891	G	C	PEX2	c.524C>G	NM_000318.3	NP_000309.2:p.(Ser175Cys)	NC_000008.10:g.77895891G>C	VUS	1 lab	5790596a23
2:71892422 DYSF A>G	2	71892422	71892422	A	G	DYSF	c.5305A>G	NM_001130987.2	NP_001124459.1:p.(Ile1769Val)	NC_000002.11:g.71892422A>G	(Likely) benign	1 lab	579106f4fc
12:12871099 CDKN1B T>G	12	12871099	12871099	T	G	CDKN1B	c.326T>G	NM_004064.4	NP_004055.1:p.(Val109Gly)	NC_000012.11:g.12871099T>G	(Likely) benign	1 lab	2154cf9c46
X:40944684 USP9X T>TGG	X	40944684	40944685	T	TGG	USP9X				NC_000023.10:g.40944684_40944685insGG	(Likely) benign	1 lab	57938d4b36
2:179485043 TTN A>G	2	179485043	179485043	A	G	TTN	c.46205T>C	NM_001267550.2	NP_001254479.2:p.(Val15402Ala)	NC_000002.11:g.179485043A>G	VUS	1 lab	5794f17aa1
X:24382373 SUPT20HL1 T>TTGCTGCTGCTGCTGC	X	24382373	24382428	T	TTGCTGCTGCTGCTGC	SUPT20HL1	c.1537_1551dup	NM_001136234.3	NP_001129706.3:p.(Ala513_Ala517dup)	NC_000023.10:g.24382414_24382428dup	VUS	1 lab	579799a247
10:97387194 ALDH18A1 T>C	10	97387194	97387194	T	C	ALDH18A1	c.1078+5A>G	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97387194T>C	(Likely) benign	1 lab	5797f2c261
16:3778051 CREBBP G>T	16	3778051	3778051	G	T	CREBBP	c.6997C>A	NM_004380.3	NP_004371.2:p.(Gln2333Lys)	NC_000016.9:g.3778051G>T	VUS	1 lab	579831aa9f
15:75652900 MAN2C1 CCT>C	15	75652900	75652902	CCT	C	MAN2C1	c.1584+4_1584+5del	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75652901_75652902del	(Likely) benign	1 lab	5798435461
X:67283747 OPHN1 A>T	X	67283747	67283747	A	T	OPHN1	c.2107T>A	NM_002547.3	NP_002538.1:p.(Ser703Thr)	NC_000023.10:g.67283747A>T	(Likely) benign	1 lab	579944fb8b
16:1574692 IFT140 G>A	16	1574692	1574692	G	A	IFT140	c.3002C>T	NM_014714.4	NP_055529.2:p.(Ala1001Val)	NC_000016.9:g.1574692G>A	(Likely) benign	1 lab	579d7740e2
7:19156428 TWIST1 C>T	7	19156428	19156428	C	T	TWIST1	c.517G>A	NM_000474.4	NP_000465.1:p.(Ala173Thr)	NC_000007.13:g.19156428C>T	(Likely) benign	1 lab	579e2dc9f0
12:121426618 HNF1A G>A	12	121426618	121426618	G	A	HNF1A	c.327-18G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426618G>A	(Likely) benign	1 lab	57a09e4329
22:19969106 ARVCF A>G	22	19969106	19969106	A	G	ARVCF	c.524T>C	NM_001670.3	NP_001661.1:p.(Val175Ala)	NC_000022.10:g.19969106A>G	(Likely) benign	1 lab	208fb10163
7:139719888 TBXAS1 G>A	7	139719888	139719888	G	A	TBXAS1	c.1591G>A	NM_001061.7	NP_001052.3:p.(Val531Ile)	NC_000007.13:g.139719888G>A	(Likely) benign	1 lab	2159d5d512
7:128489402 FLNC C>G	7	128489402	128489402	C	G	FLNC	c.4969C>G	NM_001458.5	NP_001449.3:p.(Arg1657Gly)	NC_000007.13:g.128489402C>G	VUS	1 lab	57a3b2a37c
19:45918121 ERCC1 G>T	19	45918121	45918121	G	T	ERCC1	c.700C>A	NM_001983.4	NP_001974.1:p.(Arg234=)	NC_000019.9:g.45918121G>T	VUS	1 lab	57a3c7a217
16:85948131 IRF8 G>T	16	85948131	85948131	G	T	IRF8	c.601+5G>T	NM_002163.4	NP_002154.1:p.?	NC_000016.9:g.85948131G>T	(Likely) benign	1 lab	2093a30151
12:49427658 KMT2D CTGT>C	12	49427658	49427666	CTGT	C	KMT2D	c.10827_10829del	NM_003482.4	NP_003473.3:p.(Gln3612del)	NC_000012.11:g.49427664_49427666del	VUS	1 lab	57a4bebbc8
10:105194692 PDCD11 G>A	10	105194692	105194692	G	A	PDCD11	c.3805G>A	NM_014976.2	NP_055791.1:p.(Glu1269Lys)	NC_000010.10:g.105194692G>A	(Likely) benign	1 lab	57a5fe2662
1:220313631 IARS2 G>T	1	220313631	220313631	G	T	IARS2	c.2414G>T	NM_018060.4	NP_060530.3:p.(Arg805Met)	NC_000001.10:g.220313631G>T	VUS	1 lab	57a7f67d1f
X:152813357 ATP2B3 G>C	X	152813357	152813357	G	C	ATP2B3	c.1023G>C	NM_001001344.3	NP_001001344.1:p.(Glu341Asp)	NC_000023.10:g.152813357G>C	VUS	1 lab	57a80e31c6
17:78081636 GAA T>G	17	78081636	78081636	T	G	GAA	c.896T>G	NM_000152.5	NP_000143.2:p.(Leu299Arg)	NC_000017.10:g.78081636T>G	(Likely) pathogenic	1 lab	57a89c14d5
X:139038512 CXorf66 G>A	X	139038512	139038512	G	A	CXorf66	c.629C>T	NM_001013403.3	NP_001013421.1:p.(Pro210Leu)	NC_000023.10:g.139038512G>A	VUS	1 lab	57a8f565a3
17:10451045 MYH2 C>G	17	10451045	10451045	C	G	MYH2	c.193G>C	NM_017534.6	NP_060004.3:p.(Glu65Gln)	NC_000017.10:g.10451045C>G	(Likely) benign	1 lab	57ab02c7da
5:45696017 HCN1 T>C	5	45696017	45696017	T	C	HCN1	c.179A>G	NM_021072.4	NP_066550.2:p.(Lys60Arg)	NC_000005.9:g.45696017T>C	VUS	1 lab	2093d955c0
16:68721498 CDH3 C>G	16	68721498	68721498	C	G	CDH3	c.1654C>G	NM_001793.6	NP_001784.2:p.(Gln552Glu)	NC_000016.9:g.68721498C>G	(Likely) benign	1 lab	57ae2e9add
10:19780498 MALRD1 C>G	10	19780498	19780498	C	G	MALRD1	c.5082C>G	NM_001142308.3	NP_001135780.2:p.(Asp1694Glu)	NC_000010.10:g.19780498C>G	(Likely) benign	1 lab	57ae64686e
16:51175956 SALL1 CAGA>C	16	51175956	51175962	CAGA	C	SALL1	c.174_176del	NM_002968.3	NP_002959.2:p.(Leu60del)	NC_000016.9:g.51175960_51175962del	VUS	1 lab	57af1d2d22
X:108719078 GUCY2F C>T	X	108719078	108719078	C	T	GUCY2F	c.88G>A	NM_001522.3	NP_001513.2:p.(Ala30Thr)	NC_000023.10:g.108719078C>T	VUS	1 lab	57b1155a5f
21:47801602 PCNT T>G	21	47801602	47801602	T	G	PCNT	c.3166-7T>G	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47801602T>G	VUS	1 lab	57bc660663
9:141014828 CACNA1B C>T	9	141014828	141014828	C	T	CACNA1B	c.6238+4C>T	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.141014828C>T	(Likely) benign	1 lab	57b215f0ec
15:34131089 RYR3 T>G	15	34131089	34131089	T	G	RYR3	c.12908T>G	NM_001036.6	NP_001027.3:p.(Leu4303Arg)	NC_000015.9:g.34131089T>G	(Likely) benign	1 lab	57b4c76b80
X:154456662 VBP1 G>T	X	154456662	154456662	G	T	VBP1	c.286-4G>T	NM_003372.7	NP_003363.1:p.?	NC_000023.10:g.154456662G>T	(Likely) benign	1 lab	57b5152555
3:23959425 RPL15 C>G	3	23959425	23959425	C	G	RPL15	c.75C>G	NM_002948.5	NP_002939.2:p.(Val25=)	NC_000003.11:g.23959425C>G	(Likely) benign	1 lab	57b58c7bff
16:746946 FBXL16 C>T	16	746946	746946	C	T	FBXL16	c.460G>A	NM_153350.4	NP_699181.2:p.(Glu154Lys)	NC_000016.9:g.746946C>T	VUS	1 lab	57b690611b
17:38449759 CDC6 A>G	17	38449759	38449759	A	G	CDC6	c.712A>G	NM_001254.4	NP_001245.1:p.(Thr238Ala)	NC_000017.10:g.38449759A>G	(Likely) benign	1 lab	57b784f437
17:7412467 POLR2A C>T	17	7412467	7412467	C	T	POLR2A	c.3670C>T	NM_000937.5	NP_000928.1:p.(Arg1224Trp)	NC_000017.10:g.7412467C>T	VUS	1 lab	57ba409d29
12:66357057 HMGA2 T>C	12	66357057	66357057	T	C	HMGA2	c.315T>C	NM_003483.6	NP_003474.1:p.(Ser105=)	NC_000012.11:g.66357057T>C	(Likely) benign	1 lab	57ba7d902f
19:44351276 ZNF283 T>G	19	44351276	44351276	T	G	ZNF283	c.523T>G	NM_181845.2	NP_862828.1:p.(Phe175Val)	NC_000019.9:g.44351276T>G	VUS	1 lab	57bb19ef8e
22:26224825 MYO18B A>G	22	26224825	26224825	A	G	MYO18B	c.2869A>G	NM_032608.7	NP_115997.5:p.(Lys957Glu)	NC_000022.10:g.26224825A>G	(Likely) benign	1 lab	57bb52a296
4:154626180 TLR2 T>C	4	154626180	154626180	T	C	TLR2	c.2121T>C	NM_001318789.2	NP_001305718.1:p.(Phe707=)	NC_000004.11:g.154626180T>C	(Likely) benign	1 lab	57bb7d3742
15:43932701 CATSPER2 A>G	15	43932701	43932701	A	G	CATSPER2	c.389-7T>C	NM_172095.4	NP_742093.1:p.?	NC_000015.9:g.43932701A>G	(Likely) benign	1 lab	57bbe8a1f4
X:79281113 TBX22 A>G	X	79281113	79281113	A	G	TBX22	c.470A>G	NM_001109878.2	NP_001103348.1:p.(His157Arg)	NC_000023.10:g.79281113A>G	VUS	1 lab	57bc5d9f1e
18:42281375 SETBP1 G>T	18	42281375	42281375	G	T	SETBP1	c.64G>T	NM_015559.3	NP_056374.2:p.(Val22Phe)	NC_000018.9:g.42281375G>T	VUS	1 lab	57bf0ddf4d
2:152534514 NEB G>A	2	152534514	152534514	G	A	NEB	c.3443C>T	NM_001164508.2	NP_001157980.2:p.(Ala1148Val)	NC_000002.11:g.152534514G>A	(Likely) benign	1 lab	57bf99eb67
19:12962992 MAST1 C>A	19	12962992	12962992	C	A	MAST1	c.940C>A	NM_014975.3	NP_055790.1:p.(His314Asn)	NC_000019.9:g.12962992C>A	VUS	1 lab	57c0f08b3f
3:71027086 FOXP1 A>AG	3	71027086	71027092	A	AG	FOXP1	c.1240dup	NM_001349338.3	NP_001336267.1:p.(Leu414ProfsTer47)	NC_000003.11:g.71027092dup	(Likely) pathogenic	1 lab	57c1361168
16:15761138 NDE1 T>C	16	15761138	15761138	T	C	NDE1	c.84-5T>C	NM_017668.3	NP_060138.1:p.?	NC_000016.9:g.15761138T>C	(Likely) benign	1 lab	57c5d642d6
2:71789088 DYSF G>A	2	71789088	71789088	G	A	DYSF	c.2409+14G>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71789088G>A	(Likely) benign	1 lab	57c6428463
12:99640442 ANKS1B T>C	12	99640442	99640442	T	C	ANKS1B	c.1957A>G	NM_001352186.2	NP_001339115.1:p.(Ile653Val)	NC_000012.11:g.99640442T>C	(Likely) benign	1 lab	57c76d823f
3:12458217 PPARG T>G	3	12458217	12458217	T	G	PPARG	c.744T>G	NM_138711.6	NP_619725.3:p.(Tyr248Ter)	NC_000003.11:g.12458217T>G	(Likely) pathogenic	1 lab	57c91410a8
10:104162119 NFKB2 C>T	10	104162119	104162119	C	T	NFKB2	c.2689C>T	NM_001322934.2	NP_001309863.1:p.(Pro897Ser)	NC_000010.10:g.104162119C>T	VUS	1 lab	57cb613342
20:21686465 PAX1 C>T	20	21686465	21686465	C	T	PAX1	c.115C>T	NM_001257096.2	NP_001244025.1:p.(Arg39Cys)	NC_000020.10:g.21686465C>T	VUS	1 lab	57cb7c0772
14:74970224 LTBP2 C>CG	14	74970224	74970230	C	CG	LTBP2	c.4667dup	NM_000428.3	NP_000419.1:p.(Leu1557AlafsTer22)	NC_000014.8:g.74970230dup	VUS	1 lab	57cd65b4fb
19:10798066 ILF3 G>A	19	10798066	10798066	G	A	ILF3	c.2116G>A	NM_017620.3	NP_060090.2:p.(Gly706Ser)	NC_000019.9:g.10798066G>A	(Likely) benign	1 lab	57cefff780
19:52524994 ZNF614 A>C	19	52524994	52524994	A	C	ZNF614	c.16-3247T>G	NM_025040.4	NP_079316.2:p.?	NC_000019.9:g.52524994A>C	VUS	1 lab	57cf47ab66
1:1273714 DVL1 C>T	1	1273714	1273714	C	T	DVL1	c.1442G>A	NM_001330311.2	NP_001317240.1:p.(Arg481Gln)	NC_000001.10:g.1273714C>T	VUS	1 lab	57cf96d2e7
10:38407428 ZNF37A A>G	10	38407428	38407428	A	G	ZNF37A	c.1349A>G	NM_001324250.3	NP_001311179.1:p.(Tyr450Cys)	NC_000010.10:g.38407428A>G	(Likely) benign	1 lab	57d074cc47
14:101347290 RTL1 C>G	14	101347290	101347290	C	G	RTL1	c.3836G>C	NM_001134888.3	NP_001128360.1:p.(Arg1279Pro)	NC_000014.8:g.101347290C>G	VUS	1 lab	57d24fcf63
14:99697717 BCL11B G>A	14	99697717	99697717	G	A	BCL11B	c.605C>T	NM_138576.4	NP_612808.1:p.(Thr202Met)	NC_000014.8:g.99697717G>A	(Likely) benign	1 lab	2098631d49
9:34269343 KIF24 A>T	9	34269343	34269343	A	T	KIF24	c.1355T>A	NM_194313.4	NP_919289.2:p.(Leu452Ter)	NC_000009.11:g.34269343A>T	VUS	1 lab	57d2fbbefe
X:153881516 CTAG2 G>A	X	153881516	153881516	G	A	CTAG2	c.269+5C>T	NM_172377.5	NP_758965.2:p.?	NC_000023.10:g.153881516G>A	(Likely) benign	1 lab	57d444d068
14:23859409 MYH6 T>A	14	23859409	23859409	T	A	MYH6	c.3589A>T	NM_002471.4	NP_002462.2:p.(Lys1197Ter)	NC_000014.8:g.23859409T>A	VUS	1 lab	57d463915a
14:100705707 YY1 CGAGGAG>C	14	100705707	100705724	CGAGGAG	C	YY1	c.138_143del	NM_003403.5	NP_003394.1:p.(Glu46_Glu47del)	NC_000014.8:g.100705719_100705724del	VUS	1 lab	57d491fb35
20:44578955 ZNF335 C>A	20	44578955	44578955	C	A	ZNF335	c.3390G>T	NM_022095.4	NP_071378.1:p.(Gly1130=)	NC_000020.10:g.44578955C>A	VUS	1 lab	57d5552ed7
14:74340746 PTGR2 C>G	14	74340746	74340746	C	G	PTGR2	c.177C>G	NM_001146154.2	NP_001139626.1:p.(Asp59Glu)	NC_000014.8:g.74340746C>G	VUS	1 lab	57d701b28f
8:19363029 CSGALNACT1 A>G	8	19363029	19363029	A	G	CSGALNACT1	c.317T>C	NM_001354483.2	NP_001341412.1:p.(Leu106Pro)	NC_000008.10:g.19363029A>G	(Likely) benign	1 lab	57d806cf70
7:150897540 DRC11L C>G	7	150897540	150897540	C	G	DRC11L	c.646G>C	NM_001304419.2	NP_001291348.1:p.(Val216Leu)	NC_000007.13:g.150897540C>G	VUS	1 lab	57d973aba3
19:11096912 SMARCA4 C>G	19	11096912	11096912	C	G	SMARCA4	c.403C>G	NM_003072.5	NP_003063.2:p.(Pro135Ala)	NC_000019.9:g.11096912C>G	VUS	1 lab	57d9f93180
1:53925373 DMRTB1 G>GCCGCCC	1	53925373	53925388	G	GCCGCCC	DMRTB1	c.257_262dup	NM_033067.3	NP_149056.1:p.(Ala86_Pro87dup)	NC_000001.10:g.53925383_53925388dup	VUS	1 lab	57db97d2c5
2:86839364 RNF103 T>C	2	86839364	86839364	T	C	RNF103	c.400A>G	NM_005667.4	NP_005658.1:p.(Lys134Glu)	NC_000002.11:g.86839364T>C	VUS	1 lab	57dc11189a
18:48446792 ME2 T>G	18	48446792	48446792	T	G	ME2	c.735-34T>G	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48446792T>G	(Likely) benign	1 lab	215aaa1177
5:176715892 NSD1 C>T	5	176715892	176715892	C	T	NSD1	c.6224C>T	NM_022455.5	NP_071900.2:p.(Pro2075Leu)	NC_000005.9:g.176715892C>T	(Likely) pathogenic	1 lab	57e1c8c4b8
2:227920519 COL4A4 G>C	2	227920519	227920519	G	C	COL4A4	c.2716+142C>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227920519G>C	(Likely) benign	1 lab	215ce0a7ac
1:201190614 IGFN1 C>T	1	201190614	201190614	C	T	IGFN1	c.9941C>T	NM_001164586.2	NP_001158058.1:p.(Ser3314Leu)	NC_000001.10:g.201190614C>T	VUS	1 lab	57e369b87b
19:10823254 QTRT1 G>A	19	10823254	10823254	G	A	QTRT1	c.811G>A	NM_031209.3	NP_112486.1:p.(Val271Met)	NC_000019.9:g.10823254G>A	(Likely) benign	1 lab	57e535eca2
2:157186088 NR4A2 G>A	2	157186088	157186088	G	A	NR4A2	c.611C>T	NM_006186.4	NP_006177.1:p.(Pro204Leu)	NC_000002.11:g.157186088G>A	VUS	1 lab	57e63946a7
2:220080782 ABCB6 C>T	2	220080782	220080782	C	T	ABCB6	c.1091G>A	NM_005689.4	NP_005680.1:p.(Arg364His)	NC_000002.11:g.220080782C>T	VUS	1 lab	57e756f32b
2:157190974 NR4A2 T>C	2	157190974	157190974	T	C	NR4A2				NC_000002.11:g.157190974T>C	(Likely) benign	1 lab	57e9b0a5ef
19:11319359 DOCK6 C>T	19	11319359	11319359	C	T	DOCK6	c.5088+3G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11319359C>T	(Likely) benign	1 lab	57ea0959db
X:3235573 MXRA5 T>C	X	3235573	3235573	T	C	MXRA5	c.6149A>G	NM_015419.4	NP_056234.2:p.(His2050Arg)	NC_000023.10:g.3235573T>C	(Likely) benign	1 lab	57eb1aab22
10:103371095 FBXW4 C>T	10	103371095	103371095	C	T	FBXW4	c.1657G>A	NM_022039.4	NP_071322.2:p.(Ala553Thr)	NC_000010.10:g.103371095C>T	VUS	1 lab	57eb4627a9
2:219924869 IHH G>C	2	219924869	219924869	G	C	IHH	c.315+6C>G	NM_002181.4	NP_002172.2:p.?	NC_000002.11:g.219924869G>C	(Likely) benign	1 lab	57ec688bf0
5:60628749 ZSWIM6 G>A	5	60628749	60628749	G	A	ZSWIM6	c.650G>A	NM_020928.2	NP_065979.1:p.(Gly217Asp)	NC_000005.9:g.60628749G>A	VUS	1 lab	57eeb4b80b
17:62049124 SCN4A C>T	17	62049124	62049124	C	T	SCN4A	c.569G>A	NM_000334.4	NP_000325.4:p.(Arg190Gln)	NC_000017.10:g.62049124C>T	VUS	1 lab	57eeb8d4d0
4:169799437 PALLD G>A	4	169799437	169799437	G	A	PALLD	c.395G>A	NM_001166110.2	NP_001159582.1:p.(Arg132His)	NC_000004.11:g.169799437G>A	(Likely) benign	1 lab	209d3f2ea7
19:15272328 NOTCH3 GT>G	19	15272328	15272329	GT	G	NOTCH3	c.6110del	NM_000435.3	NP_000426.2:p.(His2037ProfsTer48)	NC_000019.9:g.15272329del	VUS	1 lab	57f3b0fab0
20:42208618 SGK2 A>G	20	42208618	42208618	A	G	SGK2	c.856A>G	NM_170693.3	NP_733794.1:p.(Ile286Val)	NC_000020.10:g.42208618A>G	VUS	1 lab	57f4a7c145
16:2156195 PKD1 T>C	16	2156195	2156195	T	C	PKD1	c.7600A>G	NM_001009944.3	NP_001009944.3:p.(Ser2534Gly)	NC_000016.9:g.2156195T>C	VUS	1 lab	57f4d3c383
19:14024058 CC2D1A A>AAGCGCCAGACAAGCTGGAGAC	19	14024058	14024086	A	AAGCGCCAGACAAGCTGGAGAC	CC2D1A	c.464_484dup	NM_017721.5	NP_060191.3:p.(Arg155_Ala161dup)	NC_000019.9:g.14024066_14024086dup	VUS	1 lab	57f53fbdb9
2:186659024 FSIP2 CATT>C	2	186659024	186659027	CATT	C	FSIP2	c.7162_7164del	NM_173651.4	NP_775922.3:p.(Ile2388del)	NC_000002.11:g.186659025_186659027del	VUS	1 lab	57f5aa34cb
6:116599896 TSPYL1 G>T	6	116599896	116599896	G	T	TSPYL1	c.1098C>A	NM_003309.4	NP_003300.1:p.(Phe366Leu)	NC_000006.11:g.116599896G>T	(Likely) benign	1 lab	57f5b86afd
4:56865506 CEP135 A>C	4	56865506	56865506	A	C	CEP135	c.2048A>C	NM_025009.5	NP_079285.2:p.(Tyr683Ser)	NC_000004.11:g.56865506A>C	VUS	1 lab	57f654d1a0
1:15792629 CELA2A C>G	1	15792629	15792629	C	G	CELA2A	c.629C>G	NM_033440.3	NP_254275.1:p.(Ser210Cys)	NC_000001.10:g.15792629C>G	(Likely) benign	1 lab	57f7970630
2:70392698 C2orf42 A>G	2	70392698	70392698	A	G	C2orf42	c.1214T>C	NM_017880.3	NP_060350.1:p.(Ile405Thr)	NC_000002.11:g.70392698A>G	(Likely) benign	1 lab	57f810741b
22:41572807 EP300 A>T	22	41572807	41572807	A	T	EP300	c.5092A>T	NM_001429.4	NP_001420.2:p.(Thr1698Ser)	NC_000022.10:g.41572807A>T	VUS	1 lab	57f8fe2ccb
17:5436224 NLRP1 G>T	17	5436224	5436224	G	T	NLRP1	c.3214C>A	NM_033004.4	NP_127497.1:p.(Pro1072Thr)	NC_000017.10:g.5436224G>T	VUS	1 lab	20a13a2b1c
17:2238152 TSR1 T>C	17	2238152	2238152	T	C	TSR1	c.595A>G	NM_018128.5	NP_060598.3:p.(Lys199Glu)	NC_000017.10:g.2238152T>C	(Likely) benign	1 lab	57fafd6703
4:57414982 SPMAP2L A>C	4	57414982	57414982	A	C	SPMAP2L	c.520A>C	NM_001256475.2	NP_001243404.1:p.(Arg174=)	NC_000004.11:g.57414982A>C	VUS	1 lab	57fb9d45ac
15:38643353 SPRED1 G>T	15	38643353	38643353	G	T	SPRED1	c.823G>T	NM_152594.3	NP_689807.1:p.(Asp275Tyr)	NC_000015.9:g.38643353G>T	VUS	1 lab	57fcb085e3
6:170594061 DLL1 C>T	6	170594061	170594061	C	T	DLL1	c.1195G>A	NM_005618.4	NP_005609.3:p.(Gly399Ser)	NC_000006.11:g.170594061C>T	VUS	1 lab	57fddf05b4
8:55372284 SOX17 A>ACCACCC	8	55372284	55372292	A	ACCACCC	SOX17	c.977_982dup	NM_022454.4	NP_071899.1:p.(His326_Pro327dup)	NC_000008.10:g.55372287_55372292dup	(Likely) benign	1 lab	57fe464ab4
19:11623865 ECSIT G>A	19	11623865	11623865	G	A	ECSIT	c.738+6C>T	NM_016581.5	NP_057665.2:p.?	NC_000019.9:g.11623865G>A	(Likely) benign	1 lab	57fea874c2
18:72999482 TSHZ1 C>T	18	72999482	72999482	C	T	TSHZ1	c.2120C>T	NM_001308210.2	NP_001295139.1:p.(Pro707Leu)	NC_000018.9:g.72999482C>T	(Likely) benign	1 lab	580088744f
17:48703973 CACNA1G G>A	17	48703973	48703973	G	A	CACNA1G	c.6995G>A	NM_018896.5	NP_061496.2:p.(Arg2332Gln)	NC_000017.10:g.48703973G>A	(Likely) benign	1 lab	580222a1fa
12:80295287 PPP1R12A T>A	12	80295287	80295287	T	A	PPP1R12A	c.238-28569A>T	NM_002480.3	NP_002471.1:p.?	NC_000012.11:g.80295287T>A	(Likely) benign	1 lab	580349333e
4:128811092 PLK4 CAGA>C	4	128811092	128811097	CAGA	C	PLK4	c.1534_1536del	NM_014264.5	NP_055079.3:p.(Lys512del)	NC_000004.11:g.128811095_128811097del	VUS	1 lab	58034a33b8
6:157100611 ARID1B C>T	6	157100611	157100611	C	T	ARID1B	c.1791+6C>T	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157100611C>T	VUS	1 lab	580424f3c7
19:14294069 ADGRL1 A>C	19	14294069	14294069	A	C	ADGRL1	c.70+276T>G	NM_014921.5	NP_055736.2:p.?	NC_000019.9:g.14294069A>C	VUS	1 lab	5817a029b6
10:69934403 MYPN GCACCATC>G	10	69934403	69934412	GCACCATC	G	MYPN	c.2557_2563del	NM_032578.4	NP_115967.2:p.(Pro853CysfsTer6)	NC_000010.10:g.69934406_69934412del	(Likely) pathogenic	1 lab	20a2662687
6:51890304 PKHD1 C>G	6	51890304	51890304	C	G	PKHD1	c.4304G>C	NM_138694.4	NP_619639.3:p.(Ser1435Thr)	NC_000006.11:g.51890304C>G	VUS	1 lab	5806ff85d8
2:179398423 TTN ACTT>A	2	179398423	179398429	ACTT	A	TTN	c.102916_102918del	NM_001267550.2	NP_001254479.2:p.(Lys34306del)	NC_000002.11:g.179398427_179398429del	VUS	1 lab	580800e6db
10:97453446 TCTN3 C>A	10	97453446	97453446	C	A	TCTN3	c.211G>T	NM_015631.6	NP_056446.4:p.(Val71Leu)	NC_000010.10:g.97453446C>A	(Likely) benign	1 lab	580a88d339
20:43929790 MATN4 G>A	20	43929790	43929790	G	A	MATN4	c.841C>T	NM_001393530.1	NP_001380459.1:p.(His281Tyr)	NC_000020.10:g.43929790G>A	VUS	1 lab	580b92498a
18:25583049 CDH2 T>A	18	25583049	25583049	T	A	CDH2	c.932A>T	NM_001792.5	NP_001783.2:p.(Gln311Leu)	NC_000018.9:g.25583049T>A	VUS	1 lab	580d437df0
7:21882347 DNAH11 C>A	7	21882347	21882347	C	A	DNAH11	c.10877C>A	NM_001277115.2	NP_001264044.1:p.(Pro3626Gln)	NC_000007.13:g.21882347C>A	VUS	1 lab	580d9cfd7c
1:109617672 TAF13 C>A	1	109617672	109617672	C	A	TAF13	c.43G>T	NM_005645.4	NP_005636.1:p.(Glu15Ter)	NC_000001.10:g.109617672C>A	VUS	1 lab	580db75260
5:176721052 NSD1 T>A	5	176721052	176721052	T	A	NSD1	c.6683T>A	NM_022455.5	NP_071900.2:p.(Leu2228Gln)	NC_000005.9:g.176721052T>A	VUS	1 lab	58106c25b8
19:1037807 CNN2 G>A	19	1037807	1037807	G	A	CNN2	c.838G>A	NM_004368.4	NP_004359.1:p.(Ala280Thr)	NC_000019.9:g.1037807G>A	(Likely) benign	1 lab	5811159773
12:32895533 DNM1L G>A	12	32895533	32895533	G	A	DNM1L	c.2005G>A	NM_012062.5	NP_036192.2:p.(Ala669Thr)	NC_000012.11:g.32895533G>A	VUS	1 lab	5811e70ef9
8:94793870 TMEM67 C>T	8	94793870	94793870	C	T	TMEM67	c.979-16C>T	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94793870C>T	(Likely) benign	1 lab	2161462b95
15:65694807 IGDCC4 G>A	15	65694807	65694807	G	A	IGDCC4	c.582C>T	NM_020962.3	NP_066013.1:p.(Asn194=)	NC_000015.9:g.65694807G>A	(Likely) benign	1 lab	5815d74851
1:14106145 PRDM2 C>T	1	14106145	14106145	C	T	PRDM2	c.1855C>T	NM_001393986.1	NP_001380915.1:p.(Pro619Ser)	NC_000001.10:g.14106145C>T	(Likely) benign	1 lab	5815edecbb
11:66638269 PC C>T	11	66638269	66638269	C	T	PC	c.728G>A	NM_001040716.2	NP_001035806.1:p.(Arg243Gln)	NC_000011.9:g.66638269C>T	VUS	1 lab	5816653628
2:211158990 MYL1 G>A	2	211158990	211158990	G	A	MYL1	c.457C>T	NM_079420.3	NP_524144.1:p.(Arg153Cys)	NC_000002.11:g.211158990G>A	VUS	1 lab	58171e670c
17:73487533 TMEM94 C>T	17	73487533	73487533	C	T	TMEM94	c.1383C>T	NM_014738.6	NP_055553.3:p.(Pro461=)	NC_000017.10:g.73487533C>T	(Likely) benign	1 lab	58192a781c
6:111695716 REV3L G>A	6	111695716	111695716	G	A	REV3L	c.3842C>T	NM_001372078.1	NP_001359007.1:p.(Ser1281Phe)	NC_000006.11:g.111695716G>A	(Likely) benign	1 lab	58198ee641
5:42719072 GHR C>T	5	42719072	42719072	C	T	GHR	c.1463C>T	NM_000163.5	NP_000154.1:p.(Ala488Val)	NC_000005.9:g.42719072C>T	VUS	1 lab	5819cd1b92
10:124399687 DMBT1 G>A	10	124399687	124399687	G	A	DMBT1	c.7074G>A	NM_001377530.1	NP_001364459.1:p.(Met2358Ile)	NC_000010.10:g.124399687G>A	(Likely) benign	1 lab	5819cf586c
15:89383307 ACAN G>T	15	89383307	89383307	G	T	ACAN	c.519G>T	NM_001369268.1	NP_001356197.1:p.(Arg173=)	NC_000015.9:g.89383307G>T	(Likely) benign	1 lab	581bb8e7bf
12:80633124 OTOGL C>T	12	80633124	80633124	C	T	OTOGL	c.957C>T	NM_001378609.3	NP_001365538.2:p.(Phe319=)	NC_000012.11:g.80633124C>T	VUS	1 lab	581c24de2c
2:128400622 LIMS2 G>A	2	128400622	128400622	G	A	LIMS2	c.385C>T	NM_001161403.3	NP_001154875.1:p.(Arg129Cys)	NC_000002.11:g.128400622G>A	(Likely) benign	1 lab	581de5e1f3
12:49360033 WNT10B G>A	12	49360033	49360033	G	A	WNT10B	c.1015C>T	NM_003394.4	NP_003385.2:p.(Arg339Cys)	NC_000012.11:g.49360033G>A	(Likely) benign	1 lab	581efeefee
9:131395490 SPTAN1 C>A	9	131395490	131395490	C	A	SPTAN1	c.7311C>A	NM_001130438.3	NP_001123910.1:p.(Asn2437Lys)	NC_000009.11:g.131395490C>A	VUS	1 lab	5820a24483
16:336730 PDIA2 C>A	16	336730	336730	C	A	PDIA2	c.1417C>A	NM_006849.4	NP_006840.2:p.(Arg473=)	NC_000016.9:g.336730C>A	(Likely) benign	1 lab	5820e36023
16:30749937 SRCAP G>A	16	30749937	30749937	G	A	SRCAP	c.8576G>A	NM_006662.3	NP_006653.2:p.(Arg2859Gln)	NC_000016.9:g.30749937G>A	VUS	1 lab	5821b001ea
17:80044313 FASN C>T	17	80044313	80044313	C	T	FASN	c.3549G>A	NM_004104.5	NP_004095.4:p.(Ser1183=)	NC_000017.10:g.80044313C>T	(Likely) benign	1 lab	5821b45698
12:46230589 ARID2 G>A	12	46230589	46230589	G	A	ARID2	c.838G>A	NM_152641.4	NP_689854.2:p.(Asp280Asn)	NC_000012.11:g.46230589G>A	(Likely) benign	1 lab	5822b56619
21:47831535 PCNT G>A	21	47831535	47831535	G	A	PCNT	c.5548G>A	NM_006031.6	NP_006022.3:p.(Glu1850Lys)	NC_000021.8:g.47831535G>A	VUS	1 lab	5825ce4bb8
11:1861810 TNNI2 G>A	11	1861810	1861810	G	A	TNNI2	c.110G>A	NM_003282.4	NP_003273.1:p.(Arg37His)	NC_000011.9:g.1861810G>A	VUS	1 lab	5826c5fac3
7:103207086 RELN G>A	7	103207086	103207086	G	A	RELN	c.4709C>T	NM_005045.4	NP_005036.2:p.(Thr1570Ile)	NC_000007.13:g.103207086G>A	VUS	1 lab	58283d9f81
X:118109539 LONRF3 T>C	X	118109539	118109539	T	C	LONRF3	c.796T>C	NM_001031855.3	NP_001027026.1:p.(Tyr266His)	NC_000023.10:g.118109539T>C	VUS	1 lab	582b9865f4
19:13319693 CACNA1A A>ATGGTGG	19	13319693	13319722	A	ATGGTGG	CACNA1A	c.6651_6656dup	NM_001127222.2	NP_001120694.1:p.(His2218_His2219dup)	NC_000019.9:g.13319717_13319722dup	(Likely) benign	1 lab	582d7900ac
19:10249285 DNMT1 T>TG	19	10249285	10249290	T	TG	DNMT1	c.3949-5dup	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10249290dup	(Likely) benign	1 lab	582eb15171
2:97792872 ANKRD36 G>A	2	97792872	97792872	G	A	ANKRD36	c.799+1G>A	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97792872G>A	VUS	1 lab	582fbe2075
X:34961714 FAM47B G>T	X	34961714	34961714	G	T	FAM47B	c.766G>T	NM_152631.3	NP_689844.2:p.(Val256Leu)	NC_000023.10:g.34961714G>T	(Likely) benign	1 lab	5831841e21
5:177035624 B4GALT7 G>A	5	177035624	177035624	G	A	B4GALT7	c.723+1G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035624G>A	VUS	1 lab	5831d9e1da
2:219679698 CYP27A1 T>C	2	219679698	219679698	T	C	CYP27A1	c.1541T>C	NM_000784.4	NP_000775.1:p.(Ile514Thr)	NC_000002.11:g.219679698T>C	(Likely) benign	1 lab	58328463b0
7:70239042 AUTS2 G>A	7	70239042	70239042	G	A	AUTS2	c.1859G>A	NM_015570.4	NP_056385.1:p.(Arg620Gln)	NC_000007.13:g.70239042G>A	(Likely) benign	1 lab	5832a4e0c2
1:159163205 CADM3 C>T	1	159163205	159163205	C	T	CADM3	c.383-8C>T	NM_001127173.3	NP_001120645.1:p.?	NC_000001.10:g.159163205C>T	(Likely) benign	1 lab	5832bf51da
X:53458544 HSD17B10 T>TAAAC	X	53458544	53458550	T	TAAAC	HSD17B10	c.596-6_596-3dup	NM_004493.3	NP_004484.1:p.?	NC_000023.10:g.53458547_53458550dup	VUS	1 lab	58333eeb77
12:49433511 KMT2D C>T	12	49433511	49433511	C	T	KMT2D	c.8042G>A	NM_003482.4	NP_003473.3:p.(Arg2681Gln)	NC_000012.11:g.49433511C>T	(Likely) benign	1 lab	5835d92a6d
1:120484368 NOTCH2 T>C	1	120484368	120484368	T	C	NOTCH2	c.2762A>G	NM_024408.4	NP_077719.2:p.(Gln921Arg)	NC_000001.10:g.120484368T>C	VUS	1 lab	5836124d5d
X:7811554 VCX A>G	X	7811554	7811554	A	G	VCX	c.118A>G	NM_001393662.1	NP_001380591.1:p.(Lys40Glu)	NC_000023.10:g.7811554A>G	(Likely) benign	1 lab	58364c0460
17:57762074 CLTC G>A	17	57762074	57762074	G	A	CLTC	c.4435-343G>A	NM_004859.4	NP_004850.1:p.?	NC_000017.10:g.57762074G>A	VUS	1 lab	58379e367c
5:171809046 SH3PXD2B G>T	5	171809046	171809046	G	T	SH3PXD2B	c.395C>A	NM_001017995.3	NP_001017995.1:p.(Pro132His)	NC_000005.9:g.171809046G>T	VUS	1 lab	5839573e21
22:51154143 SHANK3 G>C	22	51154143	51154143	G	C	SHANK3	c.2537G>C	NM_001372044.2	NP_001358973.1:p.(Gly846Ala)	NC_000022.10:g.51154143G>C	VUS	1 lab	583a5c3742
11:45967403 PHF21A G>T	11	45967403	45967403	G	T	PHF21A	c.1440C>A	NM_001352027.3	NP_001338956.1:p.(Pro480=)	NC_000011.9:g.45967403G>T	VUS	1 lab	583a6ceb27
2:171248961 MYO3B G>A	2	171248961	171248961	G	A	MYO3B	c.1747G>A	NM_138995.5	NP_620482.3:p.(Glu583Lys)	NC_000002.11:g.171248961G>A	VUS	1 lab	583b9bb628
7:97482384 ASNS G>A	7	97482384	97482384	G	A	ASNS	c.1464C>T	NM_001673.5	NP_001664.3:p.(Tyr488=)	NC_000007.13:g.97482384G>A	VUS	1 lab	583cc7d470
11:10647620 IRAG1 G>A	11	10647620	10647620	G	A	IRAG1	c.1261C>T	NM_130385.4	NP_569056.4:p.(Arg421Cys)	NC_000011.9:g.10647620G>A	VUS	1 lab	583d89cf79
16:341250 AXIN1 G>A	16	341250	341250	G	A	AXIN1	c.2234C>T	NM_003502.4	NP_003493.1:p.(Ala745Val)	NC_000016.9:g.341250G>A	VUS	1 lab	583df5ff7d
14:24608352 EMC9 TC>T	14	24608352	24608354	TC	T	EMC9	c.493del	NM_016049.4	NP_057133.2:p.(Glu165LysfsTer?)	NC_000014.8:g.24608354del	VUS	1 lab	583fb40a35
14:21360060 RNASE3 G>A	14	21360060	21360060	G	A	RNASE3	c.215G>A	NM_002935.3	NP_002926.2:p.(Arg72His)	NC_000014.8:g.21360060G>A	(Likely) benign	1 lab	58410efd6e
1:220313538 IARS2 A>G	1	220313538	220313538	A	G	IARS2	c.2321A>G	NM_018060.4	NP_060530.3:p.(Tyr774Cys)	NC_000001.10:g.220313538A>G	VUS	1 lab	5841164885
1:154934125 PYGO2 G>A	1	154934125	154934125	G	A	PYGO2	c.-73C>T	NM_138300.4	NP_612157.1:p.?	NC_000001.10:g.154934125G>A	VUS	1 lab	5841dde12b
2:210894540 KANSL1L T>C	2	210894540	210894540	T	C	KANSL1L	c.2258A>G	NM_152519.4	NP_689732.2:p.(Gln753Arg)	NC_000002.11:g.210894540T>C	(Likely) benign	1 lab	5842e7bb28
15:90210238 PLIN1 C>T	15	90210238	90210238	C	T	PLIN1	c.1138G>A	NM_002666.5	NP_002657.3:p.(Ala380Thr)	NC_000015.9:g.90210238C>T	VUS	1 lab	5843b264ab
18:42618979 SETBP1 A>C	18	42618979	42618979	A	C	SETBP1	c.4171+359A>C	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42618979A>C	(Likely) benign	1 lab	584432ed5b
19:42838164 MEGF8 G>A	19	42838164	42838164	G	A	MEGF8	c.357G>A	NM_001271938.2	NP_001258867.1:p.(Leu119=)	NC_000019.9:g.42838164G>A	(Likely) benign	1 lab	58472b4ca4
5:121413253 LOX T>C	5	121413253	121413253	T	C	LOX	c.428A>G	NM_002317.7	NP_002308.2:p.(Glu143Gly)	NC_000005.9:g.121413253T>C	VUS	1 lab	2168374cb7
14:105055118 C14orf180 TGACGGGCAG>T	14	105055118	105055146	TGACGGGCAG	T	C14orf180	c.*18_*26del	NM_001008404.3	NP_001008404.1:p.?	NC_000014.8:g.105055138_105055146del	(Likely) benign	1 lab	5848ecb4cd
X:40542108 MED14 C>T	X	40542108	40542108	C	T	MED14	c.2198G>A	NM_004229.4	NP_004220.2:p.(Gly733Asp)	NC_000023.10:g.40542108C>T	VUS	1 lab	58490018aa
12:96384250 HAL G>A	12	96384250	96384250	G	A	HAL	c.776C>T	NM_002108.4	NP_002099.1:p.(Pro259Leu)	NC_000012.11:g.96384250G>A	VUS	1 lab	5849376f34
18:19093886 GREB1L A>G	18	19093886	19093886	A	G	GREB1L	c.4840A>G	NM_001142966.3	NP_001136438.1:p.(Ile1614Val)	NC_000018.9:g.19093886A>G	(Likely) benign	1 lab	584944fd61
16:31196405 FUS C>CGGT	16	31196405	31196408	C	CGGT	FUS	c.671_672insTGG	NM_004960.4	NP_004951.1:p.(Gly231dup)	NC_000016.9:g.31196407_31196408insTGG	VUS	1 lab	584a69af6a
7:47847992 PKD1L1 C>T	7	47847992	47847992	C	T	PKD1L1	c.7687-7G>A	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47847992C>T	(Likely) benign	1 lab	584c46cffa
9:131388887 SPTAN1 G>A	9	131388887	131388887	G	A	SPTAN1	c.6497G>A	NM_001130438.3	NP_001123910.1:p.(Arg2166His)	NC_000009.11:g.131388887G>A	(Likely) benign	1 lab	584c5f963b
12:49433285 KMT2D C>T	12	49433285	49433285	C	T	KMT2D	c.8162G>A	NM_003482.4	NP_003473.3:p.(Gly2721Asp)	NC_000012.11:g.49433285C>T	(Likely) benign	1 lab	584d86283e
16:68718588 CDH3 G>A	16	68718588	68718588	G	A	CDH3	c.1285G>A	NM_001793.6	NP_001784.2:p.(Val429Ile)	NC_000016.9:g.68718588G>A	(Likely) benign	1 lab	584e3e2a6b
12:96379699 HAL C>T	12	96379699	96379699	C	T	HAL	c.1193G>A	NM_002108.4	NP_002099.1:p.(Arg398His)	NC_000012.11:g.96379699C>T	VUS	1 lab	584e95a230
10:104263940 SUFU G>C	10	104263940	104263940	G	C	SUFU	c.31G>C	NM_016169.4	NP_057253.2:p.(Gly11Arg)	NC_000010.10:g.104263940G>C	(Likely) benign	1 lab	5851b70481
15:80467361 FAH C>A	15	80467361	80467361	C	A	FAH	c.841C>A	NM_000137.4	NP_000128.1:p.(Pro281Thr)	NC_000015.9:g.80467361C>A	VUS	1 lab	5851cad16d
7:122757598 SLC13A1 G>C	7	122757598	122757598	G	C	SLC13A1	c.1577C>G	NM_022444.4	NP_071889.2:p.(Ala526Gly)	NC_000007.13:g.122757598G>C	VUS	1 lab	5851f3c7be
15:31200396 FAN1 A>G	15	31200396	31200396	A	G	FAN1	c.1310A>G	NM_014967.5	NP_055782.3:p.(Glu437Gly)	NC_000015.9:g.31200396A>G	(Likely) benign	1 lab	216eb03e63
13:111147696 COL4A2 C>T	13	111147696	111147696	C	T	COL4A2	c.3642C>T	NM_001846.4	NP_001837.2:p.(Asp1214=)	NC_000013.10:g.111147696C>T	(Likely) benign	1 lab	5852ae10ad
2:157185019 NR4A2 G>A	2	157185019	157185019	G	A	NR4A2	c.891C>T	NM_006186.4	NP_006177.1:p.(Tyr297=)	NC_000002.11:g.157185019G>A	VUS	1 lab	5852cab93c
19:17899073 FCHO1 T>C	19	17899073	17899073	T	C	FCHO1	c.2648-20T>C	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17899073T>C	(Likely) benign	1 lab	2171dba0b1
11:637426 DRD4 G>T	11	637426	637426	G	T	DRD4	c.122G>T	NM_000797.4	NP_000788.2:p.(Gly41Val)	NC_000011.9:g.637426G>T	VUS	1 lab	5854e147f7
12:22059075 ABCC9 A>G	12	22059075	22059075	A	G	ABCC9	c.1603T>C	NM_020297.4	NP_064693.2:p.(Tyr535His)	NC_000012.11:g.22059075A>G	VUS	1 lab	5854ff2c9b
10:73455172 CDH23 C>T	10	73455172	73455172	C	T	CDH23	c.2290-3C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73455172C>T	VUS	1 lab	585589a7b7
15:67073482 SMAD6 G>A	15	67073482	67073482	G	A	SMAD6	c.1100G>A	NM_005585.5	NP_005576.3:p.(Cys367Tyr)	NC_000015.9:g.67073482G>A	VUS	1 lab	5857dde0b9
8:30700379 TEX15 A>G	8	30700379	30700379	A	G	TEX15	c.7304T>C	NM_001350162.2	NP_001337091.1:p.(Ile2435Thr)	NC_000008.10:g.30700379A>G	VUS	1 lab	5858330f5c
12:49432513 KMT2D G>A	12	49432513	49432513	G	A	KMT2D	c.8626C>T	NM_003482.4	NP_003473.3:p.(Gln2876Ter)	NC_000012.11:g.49432513G>A	VUS	1 lab	58598a1841
13:52598813 ALG11 C>G	13	52598813	52598813	C	G	ALG11	c.947C>G	NM_001004127.3	NP_001004127.2:p.(Pro316Arg)	NC_000013.10:g.52598813C>G	VUS	1 lab	585b633203
3:123427637 MYLK T>G	3	123427637	123427637	T	G	MYLK	c.2048A>C	NM_053025.4	NP_444253.3:p.(Gln683Pro)	NC_000003.11:g.123427637T>G	VUS	1 lab	585b69d6e3
X:22244553 PHEX C>T	X	22244553	22244553	C	T	PHEX	c.1900-7C>T	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22244553C>T	(Likely) benign	1 lab	585cbeae8f
16:30748586 SRCAP G>A	16	30748586	30748586	G	A	SRCAP	c.7225G>A	NM_006662.3	NP_006653.2:p.(Ala2409Thr)	NC_000016.9:g.30748586G>A	(Likely) benign	1 lab	585d411e5e
14:99641653 BCL11B C>T	14	99641653	99641653	C	T	BCL11B	c.1520G>A	NM_138576.4	NP_612808.1:p.(Gly507Asp)	NC_000014.8:g.99641653C>T	VUS	1 lab	585fb9584f
9:19080528 HAUS6 T>C	9	19080528	19080528	T	C	HAUS6	c.1013A>G	NM_017645.5	NP_060115.3:p.(Glu338Gly)	NC_000009.11:g.19080528T>C	(Likely) benign	1 lab	585fc9ca01
9:65506715 SPATA31A7 C>T	9	65506715	65506715	C	T	SPATA31A7	c.845G>A	NM_015667.2	NP_056482.2:p.(Arg282Gln)	NC_000009.11:g.65506715C>T	VUS	1 lab	5860504644
10:76789213 KAT6B C>A	10	76789213	76789213	C	A	KAT6B	c.4631C>A	NM_012330.4	NP_036462.2:p.(Ala1544Asp)	NC_000010.10:g.76789213C>A	(Likely) benign	1 lab	586163dcc4
10:129907282 MKI67 T>C	10	129907282	129907282	T	C	MKI67	c.2822A>G	NM_002417.5	NP_002408.3:p.(Asn941Ser)	NC_000010.10:g.129907282T>C	VUS	1 lab	58632d074b
3:66432733 LRIG1 C>G	3	66432733	66432733	C	G	LRIG1	c.2581G>C	NM_015541.3	NP_056356.2:p.(Gly861Arg)	NC_000003.11:g.66432733C>G	(Likely) benign	1 lab	58635b8788
11:4139545 RRM1 C>T	11	4139545	4139545	C	T	RRM1	c.651-5C>T	NM_001033.5	NP_001024.1:p.?	NC_000011.9:g.4139545C>T	(Likely) benign	1 lab	58639d03f8
3:48508028 TREX1 G>A	3	48508028	48508028	G	A	TREX1	c.-26-1G>A	NM_033629.6	NP_338599.1:p.?	NC_000003.11:g.48508028G>A	VUS	1 lab	5866d7c4ef
6:70386415 LMBRD1 C>T	6	70386415	70386415	C	T	LMBRD1	c.1436G>A	NM_018368.4	NP_060838.3:p.(Arg479Gln)	NC_000006.11:g.70386415C>T	VUS	1 lab	5869d751a0
16:75665100 KARS1 G>C	16	75665100	75665100	G	C	KARS1	c.1304C>G	NM_005548.3	NP_005539.1:p.(Pro435Arg)	NC_000016.9:g.75665100G>C	VUS	1 lab	586a0a42b7
2:179578910 TTN G>T	2	179578910	179578910	G	T	TTN	c.26483-8C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578910G>T	(Likely) benign	1 lab	586a12f6a4
2:179463888 TTN C>T	2	179463888	179463888	C	T	TTN	c.56632G>A	NM_001267550.2	NP_001254479.2:p.(Ala18878Thr)	NC_000002.11:g.179463888C>T	VUS	1 lab	586afb0c48
20:10620244 JAG1 T>TG	20	10620244	10620250	T	TG	JAG1	c.3558dup	NM_000214.3	NP_000205.1:p.(Asn1187GlnfsTer42)	NC_000020.10:g.10620250dup	(Likely) pathogenic	1 lab	586b44c910
19:40902112 PRX TCA>T	19	40902112	40902116	TCA	T	PRX	c.2145_2146del	NM_181882.3	NP_870998.2:p.(Cys715Ter)	NC_000019.9:g.40902115_40902116del	(Likely) pathogenic	1 lab	586e13027d
15:43500871 EPB42 C>T	15	43500871	43500871	C	T	EPB42	c.935G>A	NM_001114134.2	NP_001107606.1:p.(Gly312Glu)	NC_000015.9:g.43500871C>T	VUS	1 lab	586f0e3d03
9:89561839 GAS1 G>C	9	89561839	89561839	G	C	GAS1	c.-145C>G	NM_002048.3	NP_002039.2:p.?	NC_000009.11:g.89561839G>C	(Likely) benign	1 lab	5871786bd5
2:179666933 TTN C>G	2	179666933	179666933	C	G	TTN	c.227G>C	NM_001267550.2	NP_001254479.2:p.(Gly76Ala)	NC_000002.11:g.179666933C>G	VUS	1 lab	5871cf799c
11:6662745 DCHS1 CCAGCAGCAG>C	11	6662745	6662771	CCAGCAGCAG	C	DCHS1	c.91_99del	NM_003737.4	NP_003728.1:p.(Leu31_Leu33del)	NC_000011.9:g.6662763_6662771del	(Likely) benign	1 lab	5872a856d2
17:63534304 AXIN2 G>A	17	63534304	63534304	G	A	AXIN2	c.1200+17C>T	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63534304G>A	(Likely) benign	1 lab	5874cdc571
2:220428287 OBSL1 A>T	2	220428287	220428287	A	T	OBSL1	c.2470T>A	NM_015311.3	NP_056126.1:p.(Cys824Ser)	NC_000002.11:g.220428287A>T	(Likely) benign	1 lab	587561d657
3:195514990 MUC4 T>G	3	195514990	195514990	T	G	MUC4	c.3461A>C	NM_018406.7	NP_060876.5:p.(His1154Pro)	NC_000003.11:g.195514990T>G	(Likely) benign	1 lab	5875801e93
19:1462127 APC2 G>A	19	1462127	1462127	G	A	APC2	c.1804G>A	NM_005883.3	NP_005874.1:p.(Gly602Ser)	NC_000019.9:g.1462127G>A	VUS	1 lab	5876930ab9
1:40768449 COL9A2 G>A	1	40768449	40768449	G	A	COL9A2	c.1636C>T	NM_001852.4	NP_001843.1:p.(Arg546Trp)	NC_000001.10:g.40768449G>A	VUS	1 lab	58790db6a2
7:116417463 MET C>T	7	116417463	116417463	C	T	MET	c.3334C>T	NM_001127500.1	NP_001120972.1:p.(His1112Tyr)	NC_000007.13:g.116417463C>T	(Likely) pathogenic	1 lab	21755b6707
X:153278625 IRAK1 C>T	X	153278625	153278625	C	T	IRAK1	c.1799G>A	NM_001569.4	NP_001560.2:p.(Arg600His)	NC_000023.10:g.153278625C>T	VUS	1 lab	587a2aa6f4
3:192126293 FGF12 G>C	3	192126293	192126293	G	C	FGF12	c.14-47966C>G	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192126293G>C	(Likely) benign	1 lab	587a67c473
15:66995668 SMAD6 AGGCGGCAGC>A	15	66995668	66995683	AGGCGGCAGC	A	SMAD6	c.79_87del	NM_005585.5	NP_005576.3:p.(Ser27_Gly29del)	NC_000015.9:g.66995675_66995683del	VUS	1 lab	587b312b5b
6:12294568 EDN1 G>A	6	12294568	12294568	G	A	EDN1	c.464G>A	NM_001955.5	NP_001946.3:p.(Cys155Tyr)	NC_000006.11:g.12294568G>A	VUS	1 lab	587beeae7c
2:230705543 TRIP12 A>C	2	230705543	230705543	A	C	TRIP12	c.1128T>G	NM_001348323.3	NP_001335252.1:p.(Ser376Arg)	NC_000002.11:g.230705543A>C	VUS	1 lab	587cab5005
14:24708755 GMPR2 C>T	14	24708755	24708755	C	T	GMPR2				NC_000014.8:g.24708755C>T	(Likely) benign	1 lab	587ce59933
6:132181591 ENPP1 C>T	6	132181591	132181591	C	T	ENPP1	c.860C>T	NM_006208.3	NP_006199.2:p.(Ser287Phe)	NC_000006.11:g.132181591C>T	(Likely) benign	1 lab	587d3efb63
5:149755359 TCOF1 C>T	5	149755359	149755359	C	T	TCOF1	c.1780C>T	NM_001371623.1	NP_001358552.1:p.(Pro594Ser)	NC_000005.9:g.149755359C>T	(Likely) benign	1 lab	587e44c80c
3:27759235 EOMES G>C	3	27759235	27759235	G	C	EOMES	c.1444C>G	NM_001278182.2	NP_001265111.1:p.(Gln482Glu)	NC_000003.11:g.27759235G>C	VUS	1 lab	587fd0a7b6
9:2159872 SMARCA2 C>G	9	2159872	2159872	C	G	SMARCA2	c.3982-1814C>G	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2159872C>G	(Likely) benign	1 lab	5880a08297
12:101680193 UTP20 G>A	12	101680193	101680193	G	A	UTP20	c.421G>A	NM_014503.3	NP_055318.2:p.(Asp141Asn)	NC_000012.11:g.101680193G>A	VUS	1 lab	5880d42d8b
X:84363031 SATL1 C>T	X	84363031	84363031	C	T	SATL1	c.944G>A	NM_001367857.2	NP_001354786.1:p.(Gly315Asp)	NC_000023.10:g.84363031C>T	(Likely) benign	1 lab	5882640389
21:46915302 COL18A1 G>C	21	46915302	46915302	G	C	COL18A1	c.2464G>C	NM_001379500.1	NP_001366429.1:p.(Glu822Gln)	NC_000021.8:g.46915302G>C	(Likely) benign	1 lab	5886d800a3
1:11297985 MTOR C>T	1	11297985	11297985	C	T	MTOR	c.2123G>A	NM_004958.4	NP_004949.1:p.(Arg708Gln)	NC_000001.10:g.11297985C>T	VUS	1 lab	5887c068ec
5:13944537 DNAH5 A>G	5	13944537	13944537	A	G	DNAH5	c.11T>C	NM_001369.3	NP_001360.1:p.(Ile4Thr)	NC_000005.9:g.13944537A>G	(Likely) benign	1 lab	5887c96121
1:231556900 EGLN1 A>C	1	231556900	231556900	A	C	EGLN1	c.735T>G	NM_022051.3	NP_071334.1:p.(Ser245Arg)	NC_000001.10:g.231556900A>C	(Likely) benign	1 lab	58882df2b0
14:65543211 MAX G>A	14	65543211	65543211	G	A	MAX	c.466C>T	NM_002382.5	NP_002373.3:p.(Arg156Trp)	NC_000014.8:g.65543211G>A	VUS	1 lab	588b36e002
8:100514005 VPS13B C>T	8	100514005	100514005	C	T	VPS13B	c.3961C>T	NM_152564.5	NP_689777.3:p.(Arg1321Cys)	NC_000008.10:g.100514005C>T	(Likely) benign	1 lab	588c0ba9ce
3:135870241 MSL2 T>C	3	135870241	135870241	T	C	MSL2	c.1482A>G	NM_018133.4	NP_060603.2:p.(Ile494Met)	NC_000003.11:g.135870241T>C	VUS	1 lab	588c9c8dc4
2:27716949 FNDC4 C>T	2	27716949	27716949	C	T	FNDC4	c.302G>A	NM_022823.3	NP_073734.1:p.(Arg101Gln)	NC_000002.11:g.27716949C>T	VUS	1 lab	588cb24cfa
7:44190561 GCK G>C	7	44190561	44190561	G	C	GCK	c.477C>G	NM_000162.5	NP_000153.1:p.(Ile159Met)	NC_000007.13:g.44190561G>C	VUS	1 lab	588cbd3fa7
13:77651434 MYCBP2 G>A	13	77651434	77651434	G	A	MYCBP2	c.11573C>T	NM_015057.5	NP_055872.4:p.(Pro3858Leu)	NC_000013.10:g.77651434G>A	VUS	1 lab	588cd68075
7:141794616 MGAM G>A	7	141794616	141794616	G	A	MGAM	c.7411G>A	NM_001365693.1	NP_001352622.1:p.(Gly2471Arg)	NC_000007.13:g.141794616G>A	VUS	1 lab	588f300dc1
16:71894208 ZNF821 GTGCCCGC>G	16	71894208	71894218	GTGCCCGC	G	ZNF821	c.945_951del	NM_001201552.2	NP_001188481.1:p.(Gln315HisfsTer11)	NC_000016.9:g.71894212_71894218del	VUS	1 lab	588f4067e4
1:31440124 PUM1 T>C	1	31440124	31440124	T	C	PUM1	c.1679A>G	NM_001020658.2	NP_001018494.1:p.(Asp560Gly)	NC_000001.10:g.31440124T>C	(Likely) benign	1 lab	5891e9afdd
1:45797958 MUTYH G>A	1	45797958	45797958	G	A	MUTYH	c.729C>T	NM_001048174.2	NP_001041639.1:p.(Asp243=)	NC_000001.10:g.45797958G>A	(Likely) benign	1 lab	589230b40d
5:140768785 PCDHGB4 A>C	5	140768785	140768785	A	C	PCDHGB4	c.1334A>C	NM_003736.4	NP_003727.1:p.(Asp445Ala)	NC_000005.9:g.140768785A>C	VUS	1 lab	589395c5f9
2:170042023 LRP2 A>C	2	170042023	170042023	A	C	LRP2	c.9835T>G	NM_004525.3	NP_004516.2:p.(Trp3279Gly)	NC_000002.11:g.170042023A>C	VUS	1 lab	589422bc11
22:50966121 TYMP C>T	22	50966121	50966121	C	T	TYMP	c.542G>A	NM_001953.5	NP_001944.1:p.(Gly181Asp)	NC_000022.10:g.50966121C>T	VUS	1 lab	5894bae01d
X:84502603 ZNF711 G>C	X	84502603	84502603	G	C	ZNF711	c.25G>C	NM_021998.5	NP_068838.3:p.(Gly9Arg)	NC_000023.10:g.84502603G>C	VUS	1 lab	20a8b8880f
6:99894012 USP45 T>A	6	99894012	99894012	T	A	USP45	c.1636A>T	NM_001346022.3	NP_001332951.1:p.(Lys546Ter)	NC_000006.11:g.99894012T>A	VUS	1 lab	589534b14a
7:151938447 KMT2C A>G	7	151938447	151938447	A	G	KMT2C	c.2533-2536T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151938447A>G	(Likely) benign	1 lab	5895bb8d77
22:18893995 DGCR6 C>G	22	18893995	18893995	C	G	DGCR6	c.108C>G	NM_005675.6	NP_005666.2:p.(Pro36=)	NC_000022.10:g.18893995C>G	(Likely) benign	1 lab	5895dd0a0b
2:206997670 NDUFS1 T>C	2	206997670	206997670	T	C	NDUFS1	c.1552A>G	NM_005006.7	NP_004997.4:p.(Arg518Gly)	NC_000002.11:g.206997670T>C	(Likely) benign	1 lab	58977ad2f0
9:135947046 CEL C>T	9	135947046	135947046	C	T	CEL	c.2157C>T	NM_001807.6	NP_001798.3:p.(Asp719=)	NC_000009.11:g.135947046C>T	(Likely) benign	1 lab	5898d3dc92
15:91456152 MAN2A2 C>G	15	91456152	91456152	C	G	MAN2A2	c.2515C>G	NM_006122.4	NP_006113.2:p.(Pro839Ala)	NC_000015.9:g.91456152C>G	VUS	1 lab	58997ed760
1:45808515 TOE1 T>C	1	45808515	45808515	T	C	TOE1	c.753T>C	NM_025077.4	NP_079353.3:p.(Cys251=)	NC_000001.10:g.45808515T>C	(Likely) benign	1 lab	58998b4cda
14:52735275 PTGDR C>T	14	52735275	52735275	C	T	PTGDR	c.743C>T	NM_000953.3	NP_000944.1:p.(Ala248Val)	NC_000014.8:g.52735275C>T	VUS	1 lab	5899a246bb
19:18899389 COMP G>T	19	18899389	18899389	G	T	COMP	c.762+12C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899389G>T	(Likely) benign	1 lab	589ae2ae5b
2:215845307 ABCA12 A>G	2	215845307	215845307	A	G	ABCA12	c.4640T>C	NM_173076.3	NP_775099.2:p.(Ile1547Thr)	NC_000002.11:g.215845307A>G	VUS	1 lab	589c735c85
9:78973431 PCSK5 G>A	9	78973431	78973431	G	A	PCSK5	c.5257G>A	NM_001372043.1	NP_001358972.1:p.(Glu1753Lys)	NC_000009.11:g.78973431G>A	(Likely) benign	1 lab	589ccdd224
1:235618996 B3GALNT2 C>A	1	235618996	235618996	C	A	B3GALNT2	c.1026G>T	NM_152490.5	NP_689703.1:p.(Trp342Cys)	NC_000001.10:g.235618996C>A	VUS	1 lab	589d060bb7
X:46360126 ZNF674 G>A	X	46360126	46360126	G	A	ZNF674	c.883C>T	NM_001190417.2	NP_001177346.1:p.(Arg295Ter)	NC_000023.10:g.46360126G>A	(Likely) benign	1 lab	589d552a9b
11:71932697 FOLR2 C>T	11	71932697	71932697	C	T	FOLR2	c.659C>T	NM_000803.5	NP_000794.3:p.(Ala220Val)	NC_000011.9:g.71932697C>T	VUS	1 lab	5a0f853f0e
7:138968588 UBN2 G>A	7	138968588	138968588	G	A	UBN2	c.2937G>A	NM_173569.4	NP_775840.3:p.(Met979Ile)	NC_000007.13:g.138968588G>A	(Likely) benign	1 lab	589e5235a9
10:102509562 PAX2 G>C	10	102509562	102509562	G	C	PAX2	c.103G>C	NM_000278.5	NP_000269.3:p.(Asp35His)	NC_000010.10:g.102509562G>C	VUS	1 lab	589f7b11ee
5:127614488 FBN2 C>T	5	127614488	127614488	C	T	FBN2	c.7184G>A	NM_001999.4	NP_001990.2:p.(Cys2395Tyr)	NC_000005.9:g.127614488C>T	VUS	1 lab	589f7db2b2
1:74716374 TNNI3K G>A	1	74716374	74716374	G	A	TNNI3K	c.254G>A	NM_015978.3	NP_057062.1:p.(Arg85Gln)	NC_000001.10:g.74716374G>A	VUS	1 lab	20aafbad09
7:79842154 GNAI1 C>G	7	79842154	79842154	C	G	GNAI1	c.843C>G	NM_002069.6	NP_002060.4:p.(Ser281Arg)	NC_000007.13:g.79842154C>G	VUS	1 lab	58a1155822
22:37494530 TMPRSS6 G>A	22	37494530	37494530	G	A	TMPRSS6	c.262C>T	NM_001374504.1	NP_001361433.1:p.(Arg88Cys)	NC_000022.10:g.37494530G>A	VUS	1 lab	58a1da9d60
4:159616704 ETFDH G>A	4	159616704	159616704	G	A	ETFDH	c.740G>A	NM_004453.4	NP_004444.2:p.(Gly247Asp)	NC_000004.11:g.159616704G>A	VUS	1 lab	58a2d2ff1b
X:117707857 DOCK11 C>T	X	117707857	117707857	C	T	DOCK11	c.1265C>T	NM_144658.4	NP_653259.3:p.(Pro422Leu)	NC_000023.10:g.117707857C>T	VUS	1 lab	58a32c9f36
10:45427429 TMEM72 C>A	10	45427429	45427429	C	A	TMEM72	c.138-17C>A	NM_001123376.3	NP_001116848.1:p.?	NC_000010.10:g.45427429C>A	(Likely) benign	1 lab	217f485278
14:105416262 AHNAK2 G>C	14	105416262	105416262	G	C	AHNAK2	c.5526C>G	NM_138420.4	NP_612429.2:p.(Ile1842Met)	NC_000014.8:g.105416262G>C	(Likely) benign	1 lab	58a9065ce6
1:24122733 GALE C>T	1	24122733	24122733	C	T	GALE	c.896G>A	NM_001008216.2	NP_001008217.1:p.(Arg299Gln)	NC_000001.10:g.24122733C>T	VUS	1 lab	58a9250406
8:41804362 KAT6A A>G	8	41804362	41804362	A	G	KAT6A	c.1903-160T>C	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41804362A>G	(Likely) benign	1 lab	58a92c80cb
15:63929731 HERC1 C>T	15	63929731	63929731	C	T	HERC1	c.12205G>A	NM_003922.4	NP_003913.3:p.(Val4069Met)	NC_000015.9:g.63929731C>T	VUS	1 lab	58aa77fa14
11:105732889 GRIA4 T>G	11	105732889	105732889	T	G	GRIA4	c.627T>G	NM_000829.4	NP_000820.4:p.(Phe209Leu)	NC_000011.9:g.105732889T>G	(Likely) benign	1 lab	58aa7d630f
1:201180277 IGFN1 A>G	1	201180277	201180277	A	G	IGFN1	c.6256A>G	NM_001164586.2	NP_001158058.1:p.(Thr2086Ala)	NC_000001.10:g.201180277A>G	VUS	1 lab	58acae0dbf
6:145948648 EPM2A C>T	6	145948648	145948648	C	T	EPM2A	c.900G>A	NM_001018041.2	NP_001018051.1:p.(Arg300=)	NC_000006.11:g.145948648C>T	(Likely) benign	1 lab	21819e1db0
19:1468328 APC2 C>T	19	1468328	1468328	C	T	APC2	c.5028C>T	NM_005883.3	NP_005874.1:p.(Asp1676=)	NC_000019.9:g.1468328C>T	(Likely) benign	1 lab	58ae486a96
5:126154753 LMNB1 A>G	5	126154753	126154753	A	G	LMNB1	c.1079A>G	NM_005573.4	NP_005564.1:p.(Tyr360Cys)	NC_000005.9:g.126154753A>G	VUS	1 lab	20ab97a1b4
17:10411253 MYH1 C>T	17	10411253	10411253	C	T	MYH1	c.1918G>A	NM_005963.4	NP_005954.3:p.(Gly640Ser)	NC_000017.10:g.10411253C>T	(Likely) benign	1 lab	58b4948bad
2:61259135 PEX13 A>G	2	61259135	61259135	A	G	PEX13	c.674A>G	NM_002618.4	NP_002609.1:p.(Asp225Gly)	NC_000002.11:g.61259135A>G	(Likely) benign	1 lab	58b527a815
15:99250885 IGF1R C>T	15	99250885	99250885	C	T	IGF1R	c.189C>T	NM_000875.5	NP_000866.1:p.(Leu63=)	NC_000015.9:g.99250885C>T	(Likely) benign	1 lab	58b5317762
1:1458955 ATAD3A G>A	1	1458955	1458955	G	A	ATAD3A	c.963+8G>A	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1458955G>A	(Likely) benign	1 lab	58b6135a70
14:105414583 AHNAK2 G>C	14	105414583	105414583	G	C	AHNAK2	c.7205C>G	NM_138420.4	NP_612429.2:p.(Pro2402Arg)	NC_000014.8:g.105414583G>C	(Likely) benign	1 lab	58b85439e8
10:82034291 MAT1A G>A	10	82034291	82034291	G	A	MAT1A	c.1070C>T	NM_000429.3	NP_000420.1:p.(Pro357Leu)	NC_000010.10:g.82034291G>A	(Likely) pathogenic	1 lab	58b9303b6b
2:10584640 ODC1 G>A	2	10584640	10584640	G	A	ODC1	c.236C>T	NM_002539.3	NP_002530.1:p.(Thr79Ile)	NC_000002.11:g.10584640G>A	VUS	1 lab	58b93d5db1
1:231402096 GNPAT C>CACTTCGAT	1	231402096	231402104	C	CACTTCGAT	GNPAT	c.999_1006dup	NM_014236.4	NP_055051.1:p.(Ser336TyrfsTer10)	NC_000001.10:g.231402097_231402104dup	VUS	1 lab	58ba990ada
12:21614983 PYROXD1 T>A	12	21614983	21614983	T	A	PYROXD1	c.922T>A	NM_024854.5	NP_079130.2:p.(Tyr308Asn)	NC_000012.11:g.21614983T>A	VUS	1 lab	58ba9f7ae0
18:43669662 ATP5F1A G>C	18	43669662	43669662	G	C	ATP5F1A	c.520C>G	NM_004046.6	NP_004037.1:p.(Leu174Val)	NC_000018.9:g.43669662G>C	VUS	1 lab	58bac96c56
6:31934493 SKIC2 C>T	6	31934493	31934493	C	T	SKIC2	c.2210C>T	NM_006929.5	NP_008860.4:p.(Pro737Leu)	NC_000006.11:g.31934493C>T	VUS	1 lab	58bcd6bf8d
2:163133439 IFIH1 T>C	2	163133439	163133439	T	C	IFIH1	c.2062A>G	NM_022168.4	NP_071451.2:p.(Lys688Glu)	NC_000002.11:g.163133439T>C	VUS	1 lab	58bd664dbe
11:17409330 KCNJ11 G>A	11	17409330	17409330	G	A	KCNJ11	c.309C>T	NM_000525.4	NP_000516.3:p.(Ser103=)	NC_000011.9:g.17409330G>A	(Likely) benign	1 lab	58be4705f1
7:44187346 GCK C>G	7	44187346	44187346	C	G	GCK	c.766G>C	NM_000162.5	NP_000153.1:p.(Glu256Gln)	NC_000007.13:g.44187346C>G	(Likely) pathogenic	1 lab	58bf272de2
1:168066186 GPR161 C>T	1	168066186	168066186	C	T	GPR161	c.659G>A	NM_001375883.1	NP_001362812.1:p.(Arg220His)	NC_000001.10:g.168066186C>T	VUS	1 lab	58bfd8422b
4:88940719 PKD2 C>T	4	88940719	88940719	C	T	PKD2	c.705C>T	NM_000297.4	NP_000288.1:p.(Cys235=)	NC_000004.11:g.88940719C>T	(Likely) benign	1 lab	58bff757f9
X:141291155 MAGEC2 C>T	X	141291155	141291155	C	T	MAGEC2	c.619G>A	NM_016249.4	NP_057333.1:p.(Val207Met)	NC_000023.10:g.141291155C>T	(Likely) benign	1 lab	58c0536d00
3:52442549 BAP1 C>T	3	52442549	52442549	C	T	BAP1	c.196G>A	NM_004656.4	NP_004647.1:p.(Val66Met)	NC_000003.11:g.52442549C>T	VUS	1 lab	58c1089b6e
1:220170353 EPRS1 C>T	1	220170353	220170353	C	T	EPRS1	c.2513G>A	NM_004446.3	NP_004437.2:p.(Arg838His)	NC_000001.10:g.220170353C>T	VUS	1 lab	58c10ac78f
15:65369758 KBTBD13 C>A	15	65369758	65369758	C	A	KBTBD13	c.605C>A	NM_001101362.3	NP_001094832.1:p.(Ala202Asp)	NC_000015.9:g.65369758C>A	VUS	1 lab	58c2e85e6a
1:150778700 CTSK C>T	1	150778700	150778700	C	T	CTSK	c.121G>A	NM_000396.4	NP_000387.1:p.(Val41Met)	NC_000001.10:g.150778700C>T	(Likely) benign	1 lab	58c3457e41
14:70245238 SLC10A1 C>T	14	70245238	70245238	C	T	SLC10A1	c.755G>A	NM_003049.4	NP_003040.1:p.(Arg252His)	NC_000014.8:g.70245238C>T	(Likely) benign	1 lab	58c34fb0b5
19:50140129 RRAS C>T	19	50140129	50140129	C	T	RRAS	c.296G>A	NM_006270.5	NP_006261.1:p.(Arg99His)	NC_000019.9:g.50140129C>T	VUS	1 lab	58c4b2c93f
16:53652993 RPGRIP1L GGT>G	16	53652993	53652997	GGT	G	RPGRIP1L	c.3558_3559del	NM_015272.5	NP_056087.2:p.(Pro1187ArgfsTer15)	NC_000016.9:g.53652996_53652997del	(Likely) pathogenic	1 lab	58c638a1c9
9:135946693 CEL C>G	9	135946693	135946693	C	G	CEL	c.1804C>G	NM_001807.6	NP_001798.3:p.(Pro602Ala)	NC_000009.11:g.135946693C>G	(Likely) benign	1 lab	58c79f20ae
4:6293036 WFS1 G>T	4	6293036	6293036	G	T	WFS1	c.573G>T	NM_006005.3	NP_005996.2:p.(Lys191Asn)	NC_000004.11:g.6293036G>T	(Likely) benign	1 lab	58c7fa381a
1:20979136 DDOST G>A	1	20979136	20979136	G	A	DDOST	c.1148C>T	NM_005216.5	NP_005207.3:p.(Thr383Ile)	NC_000001.10:g.20979136G>A	VUS	1 lab	58c8af375b
17:57125178 TRIM37 G>C	17	57125178	57125178	G	C	TRIM37	c.1533C>G	NM_015294.6	NP_056109.1:p.(His511Gln)	NC_000017.10:g.57125178G>C	VUS	1 lab	58c97ebb1d
17:1174221 BHLHA9 C>G	17	1174221	1174221	C	G	BHLHA9	c.364C>G	NM_001164405.2	NP_001157877.1:p.(Arg122Gly)	NC_000017.10:g.1174221C>G	VUS	1 lab	58c9c61d85
17:1960415 HIC1 G>T	17	1960415	1960415	G	T	HIC1	c.431G>T	NM_006497.4	NP_006488.2:p.(Gly144Val)	NC_000017.10:g.1960415G>T	VUS	1 lab	58ca0fa753
11:92592353 FAT3 T>A	11	92592353	92592353	T	A	FAT3	c.11523T>A	NM_001367949.2	NP_001354878.1:p.(Ala3841=)	NC_000011.9:g.92592353T>A	(Likely) benign	1 lab	58cb211f87
7:44180673 MYL7 C>CCATTCTCTCTGCAGAGGTGTGG	7	44180673	44180675	C	CCATTCTCTCTGCAGAGGTGTGG	MYL7	c.4-1_4insCCACACCTCTGCAGAGAGAATG	NM_021223.3	NP_067046.1:p.?	NC_000007.13:g.44180674_44180675insATTCTCTCTGCAGAGGTGTGGC	(Likely) benign	1 lab	58cb37a341
16:88747513 SNAI3 C>T	16	88747513	88747513	C	T	SNAI3	c.686G>A	NM_178310.4	NP_840101.1:p.(Arg229His)	NC_000016.9:g.88747513C>T	VUS	1 lab	58cc3d323a
19:51171507 SHANK1 A>C	19	51171507	51171507	A	C	SHANK1	c.3710T>G	NM_016148.5	NP_057232.2:p.(Val1237Gly)	NC_000019.9:g.51171507A>C	(Likely) benign	1 lab	58cd29afc1
5:37020708 NIPBL G>A	5	37020708	37020708	G	A	NIPBL	c.5158G>A	NM_133433.4	NP_597677.2:p.(Ala1720Thr)	NC_000005.9:g.37020708G>A	VUS	1 lab	58cdb8c73a
20:411155 RBCK1 G>A	20	411155	411155	G	A	RBCK1	c.*81G>A	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.411155G>A	(Likely) benign	1 lab	58ceecbdb1
7:101740695 CUX1 G>A	7	101740695	101740695	G	A	CUX1	c.320G>A	NM_181552.4	NP_853530.2:p.(Arg107His)	NC_000007.13:g.101740695G>A	VUS	1 lab	58cf302238
16:14346306 MRTFB C>T	16	14346306	14346306	C	T	MRTFB	c.2650C>T	NM_001308142.2	NP_001295071.1:p.(Arg884Cys)	NC_000016.9:g.14346306C>T	(Likely) benign	1 lab	58d0eaedb1
7:114282609 FOXP2 C>T	7	114282609	114282609	C	T	FOXP2	c.920C>T	NM_014491.4	NP_055306.1:p.(Ala307Val)	NC_000007.13:g.114282609C>T	VUS	1 lab	58d21145a3
11:89177296 NOX4 C>A	11	89177296	89177296	C	A	NOX4	c.447+7G>T	NM_016931.5	NP_058627.2:p.?	NC_000011.9:g.89177296C>A	(Likely) benign	1 lab	58d467eaa1
14:101349931 RTL1 C>T	14	101349931	101349931	C	T	RTL1	c.1195G>A	NM_001134888.3	NP_001128360.1:p.(Glu399Lys)	NC_000014.8:g.101349931C>T	(Likely) benign	1 lab	58d46cb4e4
5:5462002 ICE1 C>T	5	5462002	5462002	C	T	ICE1	c.2555C>T	NM_015325.3	NP_056140.1:p.(Ser852Leu)	NC_000005.9:g.5462002C>T	(Likely) benign	1 lab	58d47fe1a0
X:153247545 TMEM187 A>ACGTGGC	X	153247545	153247559	A	ACGTGGC	TMEM187	c.41_46dup	NM_003492.3	NP_003483.1:p.(Val14_Ala15dup)	NC_000023.10:g.153247554_153247559dup	VUS	1 lab	58d4a1f90b
13:113212711 TUBGCP3 G>A	13	113212711	113212711	G	A	TUBGCP3	c.347C>T	NM_006322.6	NP_006313.1:p.(Thr116Met)	NC_000013.10:g.113212711G>A	(Likely) benign	1 lab	58d5ee5791
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer35)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	58d61136bf
3:42166969 TRAK1 A>G	3	42166969	42166969	A	G	TRAK1	c.149A>G	NM_001042646.3	NP_001036111.1:p.(Gln50Arg)	NC_000003.11:g.42166969A>G	VUS	1 lab	58db967b04
5:42718940 GHR A>T	5	42718940	42718940	A	T	GHR	c.1331A>T	NM_000163.5	NP_000154.1:p.(Gln444Leu)	NC_000005.9:g.42718940A>T	VUS	1 lab	58dc4a8454
15:89402124 ACAN C>T	15	89402124	89402124	C	T	ACAN	c.6308C>T	NM_001369268.1	NP_001356197.1:p.(Thr2103Met)	NC_000015.9:g.89402124C>T	(Likely) benign	1 lab	58dd01b084
3:114069886 ZBTB20 T>G	3	114069886	114069886	T	G	ZBTB20	c.1039A>C	NM_001348800.3	NP_001335729.1:p.(Ile347Leu)	NC_000003.11:g.114069886T>G	(Likely) benign	1 lab	58dd07f605
11:800231 PIDD1 C>T	11	800231	800231	C	T	PIDD1	c.2174G>A	NM_145886.4	NP_665893.2:p.(Arg725His)	NC_000011.9:g.800231C>T	VUS	1 lab	58dd8e2918
12:104234771 NT5DC3 C>T	12	104234771	104234771	C	T	NT5DC3	c.164G>A	NM_001031701.3	NP_001026871.1:p.(Arg55His)	NC_000012.11:g.104234771C>T	VUS	1 lab	58de23d3fb
15:68486360 CALML4 TC>T	15	68486360	68486363	TC	T	CALML4	c.454del	NM_033429.3	NP_219501.3:p.(Asp152ThrfsTer14)	NC_000015.9:g.68486363del	VUS	1 lab	58e227f45e
22:50968127 TYMP CA>C	22	50968127	50968129	CA	C	TYMP	c.11del	NM_001953.5	NP_001944.1:p.(Leu4Ter)	NC_000022.10:g.50968129del	(Likely) pathogenic	1 lab	58e3591af6
22:21988625 CCDC116 C>A	22	21988625	21988625	C	A	CCDC116	c.387C>A	NM_152612.3	NP_689825.2:p.(Ser129Arg)	NC_000022.10:g.21988625C>A	(Likely) benign	1 lab	58e36ebf56
19:507765 TPGS1 C>T	19	507765	507765	C	T	TPGS1	c.259C>T	NM_033513.3	NP_277048.2:p.(Pro87Ser)	NC_000019.9:g.507765C>T	(Likely) benign	1 lab	58e44d3dc6
X:77380863 PGK1 C>T	X	77380863	77380863	C	T	PGK1	c.1154C>T	NM_000291.4	NP_000282.1:p.(Thr385Met)	NC_000023.10:g.77380863C>T	VUS	1 lab	20b0c908d8
6:111632357 REV3L T>C	6	111632357	111632357	T	C	REV3L	c.8710A>G	NM_001372078.1	NP_001359007.1:p.(Ile2904Val)	NC_000006.11:g.111632357T>C	(Likely) benign	1 lab	58e8c0afb0
12:111785432 CUX2 A>C	12	111785432	111785432	A	C	CUX2	c.3764A>C	NM_015267.4	NP_056082.2:p.(Asp1255Ala)	NC_000012.11:g.111785432A>C	(Likely) benign	1 lab	58e8f2cd4c
6:29644668 ZFP57 C>T	6	29644668	29644668	C	T	ZFP57	c.113G>A	NM_001109809.5	NP_001103279.2:p.(Arg38Gln)	NC_000006.11:g.29644668C>T	(Likely) benign	1 lab	58ea00b7b3
19:18896670 COMP TG>T	19	18896670	18896673	TG	T	COMP	c.1490-10del	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896673del	(Likely) benign	1 lab	58ea224938
9:732585 KANK1 A>T	9	732585	732585	A	T	KANK1	c.3213A>T	NM_015158.5	NP_055973.2:p.(Glu1071Asp)	NC_000009.11:g.732585A>T	(Likely) benign	1 lab	58ea48f99a
5:176638146 NSD1 G>A	5	176638146	176638146	G	A	NSD1	c.2746G>A	NM_022455.5	NP_071900.2:p.(Asp916Asn)	NC_000005.9:g.176638146G>A	(Likely) benign	1 lab	58ea608d84
10:124248441 HTRA1 C>T	10	124248441	124248441	C	T	HTRA1	c.496C>T	NM_002775.5	NP_002766.1:p.(Arg166Cys)	NC_000010.10:g.124248441C>T	(Likely) pathogenic	1 lab	58eacd77ac
20:31631108 BPIFB6 G>C	20	31631108	31631108	G	C	BPIFB6	c.1264G>C	NM_174897.2	NP_777557.1:p.(Val422Leu)	NC_000020.10:g.31631108G>C	(Likely) benign	1 lab	58eb09fec0
10:102707593 SLF2 A>G	10	102707593	102707593	A	G	SLF2	c.3109A>G	NM_018121.4	NP_060591.3:p.(Ser1037Gly)	NC_000010.10:g.102707593A>G	(Likely) benign	1 lab	58eb6ea08c
9:111705107 CTNNAL1 A>C	9	111705107	111705107	A	C	CTNNAL1	c.2147T>G	NM_003798.4	NP_003789.1:p.(Met716Arg)	NC_000009.11:g.111705107A>C	VUS	1 lab	58ecb39c8a
10:131640401 EBF3 T>C	10	131640401	131640401	T	C	EBF3	c.1351A>G	NM_001375380.1	NP_001362309.1:p.(Thr451Ala)	NC_000010.10:g.131640401T>C	VUS	1 lab	58ecc50813
22:50659094 TUBGCP6 C>T	22	50659094	50659094	C	T	TUBGCP6	c.3694G>A	NM_020461.4	NP_065194.3:p.(Val1232Met)	NC_000022.10:g.50659094C>T	(Likely) benign	1 lab	58eda1bbdb
11:118960387 HMBS CTA>C	11	118960387	118960391	CTA	C	HMBS	c.267-3_267-2del	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118960390_118960391del	VUS	1 lab	58ef12d203
12:79256479 MISSING G>T	12	79256479	79256479	G	T	MISSING				NC_000012.11:g.79256479G>T	(Likely) benign	1 lab	58efe426b6
21:45709635 AIRE A>T	21	45709635	45709635	A	T	AIRE	c.748A>T	NM_000383.4	NP_000374.1:p.(Ser250Cys)	NC_000021.8:g.45709635A>T	(Likely) benign	1 lab	58f0085905
2:48033951 MSH6 A>AGAT	2	48033951	48033955	A	AGAT	MSH6	c.4037_4039dup	NM_000179.3	NP_000170.1:p.(Asp1346dup)	NC_000002.11:g.48033953_48033955dup	VUS	1 lab	58f00a24ab
12:56093778 ITGA7 G>A	12	56093778	56093778	G	A	ITGA7	c.671-5C>T	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56093778G>A	(Likely) benign	1 lab	58f112077c
15:43352041 UBR1 G>A	15	43352041	43352041	G	A	UBR1	c.862-18C>T	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43352041G>A	(Likely) benign	1 lab	20b223f90d
18:44601726 KATNAL2 G>T	18	44601726	44601726	G	T	KATNAL2	c.1087G>T	NM_001387690.1	NP_001374619.1:p.(Gly363Cys)	NC_000018.9:g.44601726G>T	VUS	1 lab	58f54d518e
11:76507333 TSKU T>C	11	76507333	76507333	T	C	TSKU	c.673T>C	NM_015516.4	NP_056331.2:p.(Phe225Leu)	NC_000011.9:g.76507333T>C	VUS	1 lab	58f5590b9e
7:155595914 SHH T>C	7	155595914	155595914	T	C	SHH	c.1069A>G	NM_000193.4	NP_000184.1:p.(Asn357Asp)	NC_000007.13:g.155595914T>C	(Likely) benign	1 lab	58f7cfd92a
20:44538168 PLTP C>T	20	44538168	44538168	C	T	PLTP	c.472G>A	NM_006227.4	NP_006218.1:p.(Gly158Arg)	NC_000020.10:g.44538168C>T	VUS	1 lab	58f8295dd6
19:18895856 COMP C>A	19	18895856	18895856	C	A	COMP	c.1764G>T	NM_000095.3	NP_000086.2:p.(Val588=)	NC_000019.9:g.18895856C>A	(Likely) benign	1 lab	58fbba225a
20:44521457 CTSA G>T	20	44521457	44521457	G	T	CTSA	c.538G>T	NM_000308.4	NP_000299.3:p.(Ala180Ser)	NC_000020.10:g.44521457G>T	VUS	1 lab	58fd08f670
15:80696889 ARNT2 G>A	15	80696889	80696889	G	A	ARNT2	c.31+1G>A	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80696889G>A	VUS	1 lab	58ffc56a2c
13:100634735 ZIC2 C>G	13	100634735	100634735	C	G	ZIC2	c.417C>G	NM_007129.5	NP_009060.2:p.(Phe139Leu)	NC_000013.10:g.100634735C>G	VUS	1 lab	5900b553ca
X:48925388 CCDC120 G>A	X	48925388	48925388	G	A	CCDC120	c.1738G>A	NM_001163321.4	NP_001156793.2:p.(Ala580Thr)	NC_000023.10:g.48925388G>A	VUS	1 lab	59012dfb3c
2:219738289 WNT6 C>G	2	219738289	219738289	C	G	WNT6	c.820C>G	NM_006522.4	NP_006513.1:p.(Arg274Gly)	NC_000002.11:g.219738289C>G	(Likely) benign	1 lab	5902034e7f
2:166848180 SCN1A A>G	2	166848180	166848180	A	G	SCN1A	c.5605T>C	NM_001165963.4	NP_001159435.1:p.(Phe1869Leu)	NC_000002.11:g.166848180A>G	VUS	1 lab	590335adee
17:65944280 BPTF G>A	17	65944280	65944280	G	A	BPTF	c.7784G>A	NM_182641.4	NP_872579.2:p.(Arg2595His)	NC_000017.10:g.65944280G>A	(Likely) benign	1 lab	5903eadcf3
15:81212564 CEMIP C>T	15	81212564	81212564	C	T	CEMIP	c.1927C>T	NM_001293298.2	NP_001280227.1:p.(Arg643Cys)	NC_000015.9:g.81212564C>T	VUS	1 lab	5904873b8b
9:2077781 SMARCA2 T>G	9	2077781	2077781	T	G	SMARCA2	c.2184+5T>G	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2077781T>G	(Likely) benign	1 lab	5904c66908
1:43224864 P3H1 GC>AT	1	43224864	43224865	GC	AT	P3H1	c.808+7_808+8delinsAT	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43224864_43224865delinsAT	(Likely) benign	1 lab	59065c3000
7:103205930 RELN T>C	7	103205930	103205930	T	C	RELN	c.5005A>G	NM_005045.4	NP_005036.2:p.(Ser1669Gly)	NC_000007.13:g.103205930T>C	(Likely) benign	1 lab	590697f099
6:157100584 ARID1B A>C	6	157100584	157100584	A	C	ARID1B	c.1770A>C	NM_001374828.1	NP_001361757.1:p.(Gly590=)	NC_000006.11:g.157100584A>C	(Likely) benign	1 lab	59078e8af5
11:111229593 POU2AF1 G>A	11	111229593	111229593	G	A	POU2AF1	c.67C>T	NM_006235.3	NP_006226.2:p.(Arg23Cys)	NC_000011.9:g.111229593G>A	VUS	1 lab	590a0a3418
1:175325586 TNR G>A	1	175325586	175325586	G	A	TNR	c.2987C>T	NM_003285.3	NP_003276.3:p.(Thr996Ile)	NC_000001.10:g.175325586G>A	VUS	1 lab	590b2e5f6a
18:47566533 MYO5B T>C	18	47566533	47566533	T	C	MYO5B	c.290A>G	NM_001080467.3	NP_001073936.1:p.(Asn97Ser)	NC_000018.9:g.47566533T>C	VUS	1 lab	590e50aa8b
11:66103565 RIN1 G>A	11	66103565	66103565	G	A	RIN1	c.151C>T	NM_004292.3	NP_004283.2:p.(Arg51Trp)	NC_000011.9:g.66103565G>A	(Likely) benign	1 lab	590e744627
16:10788700 TEKT5 T>C	16	10788700	10788700	T	C	TEKT5	c.31A>G	NM_144674.2	NP_653275.1:p.(Ser11Gly)	NC_000016.9:g.10788700T>C	(Likely) benign	1 lab	5911e3fb3f
18:42532096 SETBP1 G>A	18	42532096	42532096	G	A	SETBP1	c.2791G>A	NM_015559.3	NP_056374.2:p.(Glu931Lys)	NC_000018.9:g.42532096G>A	(Likely) benign	1 lab	591363ee12
8:144999724 PLEC C>A	8	144999724	144999724	C	A	PLEC	c.4373G>T	NM_201384.3	NP_958786.1:p.(Arg1458Leu)	NC_000008.10:g.144999724C>A	VUS	1 lab	59139b91c3
14:94088889 UNC79 G>C	14	94088889	94088889	G	C	UNC79	c.5526G>C	NM_001395159.1	NP_001382088.1:p.(Glu1842Asp)	NC_000014.8:g.94088889G>C	(Likely) benign	1 lab	59142d0c3e
17:54671835 NOG C>A	17	54671835	54671835	C	A	NOG	c.251C>A	NM_005450.6	NP_005441.1:p.(Pro84His)	NC_000017.10:g.54671835C>A	(Likely) benign	1 lab	5916293223
17:71239110 MTNAP1 T>C	17	71239110	71239110	T	C	MTNAP1	c.1697T>C	NM_001351264.2	NP_001338193.2:p.(Val566Ala)	NC_000017.10:g.71239110T>C	VUS	1 lab	591732ba63
17:40107304 ODAD4 A>G	17	40107304	40107304	A	G	ODAD4	c.1412A>G	NM_031421.5	NP_113609.1:p.(His471Arg)	NC_000017.10:g.40107304A>G	(Likely) benign	1 lab	59175e49fe
9:135946624 CEL A>ACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGG	9	135946624	135946659	A	ACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGG	CEL	c.1738_1770dup	NM_001807.6	NP_001798.3:p.(Ala580_Ala590dup)	NC_000009.11:g.135946627_135946659dup	VUS	1 lab	591810eea0
3:71179740 FOXP1 G>C	3	71179740	71179740	G	C	FOXP1	c.181-17952C>G	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71179740G>C	(Likely) benign	1 lab	5919902c43
19:9063073 MUC16 T>C	19	9063073	9063073	T	C	MUC16	c.24493A>G	NM_001401501.2	NP_001388430.1:p.(Lys8165Glu)	NC_000019.9:g.9063073T>C	(Likely) benign	1 lab	591a16e6c1
19:50093627 PRRG2 G>A	19	50093627	50093627	G	A	PRRG2	c.591-1G>A	NM_000951.3	NP_000942.1:p.?	NC_000019.9:g.50093627G>A	(Likely) benign	1 lab	591ab24bfd
13:77574839 CLN5 A>G	13	77574839	77574839	A	G	CLN5	c.812A>G	NM_006493.4	NP_006484.2:p.(Asn271Ser)	NC_000013.10:g.77574839A>G	VUS	1 lab	591b863c49
14:54417318 BMP4 G>A	14	54417318	54417318	G	A	BMP4	c.659C>T	NM_001202.6	NP_001193.2:p.(Ala220Val)	NC_000014.8:g.54417318G>A	VUS	1 lab	591d2e868a
12:104071255 STAB2 G>A	12	104071255	104071255	G	A	STAB2	c.2671G>A	NM_017564.10	NP_060034.9:p.(Gly891Ser)	NC_000012.11:g.104071255G>A	VUS	1 lab	591da60fbd
17:36891709 CISD3 T>TGGCAGGGC	17	36891709	36891717	T	TGGCAGGGC	CISD3	c.*2002_*2009dup	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36891710_36891717dup	(Likely) benign	1 lab	591e81395f
12:106758044 POLR3B A>G	12	106758044	106758044	A	G	POLR3B	c.105+364A>G	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106758044A>G	(Likely) benign	1 lab	591f2e6fc1
9:135946742 CEL C>T	9	135946742	135946742	C	T	CEL	c.1853C>T	NM_001807.6	NP_001798.3:p.(Thr618Met)	NC_000009.11:g.135946742C>T	VUS	1 lab	591f8d6aaf
14:94770803 SERPINA6 G>A	14	94770803	94770803	G	A	SERPINA6	c.1170C>T	NM_001756.4	NP_001747.3:p.(His390=)	NC_000014.8:g.94770803G>A	(Likely) benign	1 lab	5920808566
X:54964063 PFKFB1 C>T	X	54964063	54964063	C	T	PFKFB1	c.1193G>A	NM_002625.4	NP_002616.2:p.(Arg398Gln)	NC_000023.10:g.54964063C>T	(Likely) benign	1 lab	592161496a
6:143095664 HIVEP2 G>A	6	143095664	143095664	G	A	HIVEP2	c.212C>T	NM_006734.4	NP_006725.3:p.(Ser71Phe)	NC_000006.11:g.143095664G>A	(Likely) benign	1 lab	5922412dab
22:40037051 CACNA1I G>A	22	40037051	40037051	G	A	CACNA1I	c.920G>A	NM_021096.4	NP_066919.2:p.(Arg307His)	NC_000022.10:g.40037051G>A	(Likely) benign	1 lab	59269a2aa8
2:20135255 WDR35 G>A	2	20135255	20135255	G	A	WDR35	c.2524C>T	NM_020779.4	NP_065830.2:p.(Pro842Ser)	NC_000002.11:g.20135255G>A	(Likely) benign	1 lab	59277a3e5d
15:45440508 DUOX1 C>T	15	45440508	45440508	C	T	DUOX1	c.2681C>T	NM_175940.3	NP_787954.1:p.(Ala894Val)	NC_000015.9:g.45440508C>T	VUS	1 lab	5927838fdf
6:87966747 ZNF292 C>T	6	87966747	87966747	C	T	ZNF292	c.2980C>T	NM_001351444.2	NP_001338373.1:p.(Arg994Cys)	NC_000006.11:g.87966747C>T	VUS	1 lab	20b3a81f0a
2:220432950 OBSL1 G>A	2	220432950	220432950	G	A	OBSL1	c.1109C>T	NM_015311.3	NP_056126.1:p.(Pro370Leu)	NC_000002.11:g.220432950G>A	VUS	1 lab	592d64b42b
11:125765546 HYLS1 G>A	11	125765546	125765546	G	A	HYLS1	c.-25-3693G>A	NM_001134793.2	NP_001128265.1:p.?	NC_000011.9:g.125765546G>A	VUS	1 lab	592e1f6848
8:6783437 DEFA6 G>A	8	6783437	6783437	G	A	DEFA6	c.121C>T	NM_001926.4	NP_001917.1:p.(Gln41Ter)	NC_000008.10:g.6783437G>A	VUS	1 lab	592f987158
1:44083566 PTPRF TGGA>T	1	44083566	44083573	TGGA	T	PTPRF	c.4360_4362del	NM_002840.5	NP_002831.2:p.(Glu1454del)	NC_000001.10:g.44083571_44083573del	VUS	1 lab	593214534b
4:123192267 BLTP1 T>A	4	123192267	123192267	T	A	BLTP1	c.7588T>A	NM_001384125.1	NP_001371054.1:p.(Cys2530Ser)	NC_000004.11:g.123192267T>A	(Likely) benign	1 lab	5933845dca
11:837277 CD151 A>C	11	837277	837277	A	C	CD151	c.379A>C	NM_004357.5	NP_004348.2:p.(Lys127Gln)	NC_000011.9:g.837277A>C	VUS	1 lab	59339a773e
5:176025290 GPRIN1 C>A	5	176025290	176025290	C	A	GPRIN1	c.1546G>T	NM_052899.3	NP_443131.2:p.(Gly516Trp)	NC_000005.9:g.176025290C>A	VUS	1 lab	5933c599ec
11:112832330 NCAM1 T>G	11	112832330	112832330	T	G	NCAM1	c.-4T>G	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.112832330T>G	VUS	1 lab	5934577d98
10:50966571 OGDHL T>C	10	50966571	50966571	T	C	OGDHL	c.68A>G	NM_018245.3	NP_060715.2:p.(Asp23Gly)	NC_000010.10:g.50966571T>C	(Likely) benign	1 lab	593468553b
15:89403561 ACAN C>T	15	89403561	89403561	C	T	ACAN	c.6837C>T	NM_001369268.1	NP_001356197.1:p.(Pro2279=)	NC_000015.9:g.89403561C>T	(Likely) benign	1 lab	59373fb26c
18:19751342 GATA6 G>A	18	19751342	19751342	G	A	GATA6	c.237G>A	NM_005257.6	NP_005248.2:p.(Leu79=)	NC_000018.9:g.19751342G>A	(Likely) benign	1 lab	5939d033dc
14:24031491 AP1G2 TCTTA>T	14	24031491	24031498	TCTTA	T	AP1G2	c.1628+2_1628+5del	NM_003917.5	NP_003908.1:p.?	NC_000014.8:g.24031495_24031498del	VUS	1 lab	593a31358c
5:156766062 CYFIP2 C>T	5	156766062	156766062	C	T	CYFIP2	c.2386-3C>T	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156766062C>T	(Likely) benign	1 lab	593b4a1633
6:30553993 ABCF1 C>T	6	30553993	30553993	C	T	ABCF1	c.1796C>T	NM_001025091.2	NP_001020262.1:p.(Pro599Leu)	NC_000006.11:g.30553993C>T	(Likely) benign	1 lab	593bd31577
2:149240710 MBD5 A>G	2	149240710	149240710	A	G	MBD5	c.2550A>G	NM_001378120.1	NP_001365049.1:p.(Ile850Met)	NC_000002.11:g.149240710A>G	VUS	1 lab	593d2f60fe
17:8064802 VAMP2 A>C	17	8064802	8064802	A	C	VAMP2	c.323T>G	NM_014232.3	NP_055047.2:p.(Ile108Ser)	NC_000017.10:g.8064802A>C	VUS	1 lab	593fc4bfbb
8:67986544 CSPP1 CAA>C	8	67986544	67986547	CAA	C	CSPP1	c.59_60del	NM_001382391.1	NP_001369320.1:p.(Lys20SerfsTer6)	NC_000008.10:g.67986546_67986547del	(Likely) pathogenic	1 lab	594233ca87
4:6302967 WFS1 A>G	4	6302967	6302967	A	G	WFS1	c.1445A>G	NM_006005.3	NP_005996.2:p.(Lys482Arg)	NC_000004.11:g.6302967A>G	VUS	1 lab	594302a2d2
17:6328811 AIPL1 G>A	17	6328811	6328811	G	A	AIPL1	c.1124C>T	NM_014336.5	NP_055151.3:p.(Pro375Leu)	NC_000017.10:g.6328811G>A	(Likely) benign	1 lab	59450e48d8
3:9787527 BRPF1 C>T	3	9787527	9787527	C	T	BRPF1	c.3237C>T	NM_001003694.2	NP_001003694.1:p.(Gly1079=)	NC_000003.11:g.9787527C>T	(Likely) benign	1 lab	5945b280c3
18:43445664 EPG5 C>T	18	43445664	43445664	C	T	EPG5	c.6682G>A	NM_020964.3	NP_066015.2:p.(Glu2228Lys)	NC_000018.9:g.43445664C>T	VUS	1 lab	5945d724d3
17:59934442 BRIP1 T>C	17	59934442	59934442	T	C	BRIP1	c.356A>G	NM_032043.3	NP_114432.2:p.(Asn119Ser)	NC_000017.10:g.59934442T>C	VUS	1 lab	5945d760c6
12:6637351 NCAPD2 C>T	12	6637351	6637351	C	T	NCAPD2	c.3156C>T	NM_014865.4	NP_055680.3:p.(Cys1052=)	NC_000012.11:g.6637351C>T	VUS	1 lab	5a5e6a9cf4
10:64973396 JMJD1C A>T	10	64973396	64973396	A	T	JMJD1C	c.2531T>A	NM_032776.3	NP_116165.1:p.(Leu844His)	NC_000010.10:g.64973396A>T	(Likely) benign	1 lab	594646cca4
5:98192409 CHD1 TTCTC>T	5	98192409	98192416	TTCTC	T	CHD1	c.4804_4807del	NM_001270.4	NP_001261.2:p.(Glu1602AsnfsTer21)	NC_000005.9:g.98192413_98192416del	VUS	1 lab	59465dd0f8
12:116445441 MED13L T>A	12	116445441	116445441	T	A	MED13L	c.2013A>T	NM_015335.5	NP_056150.1:p.(Arg671Ser)	NC_000012.11:g.116445441T>A	VUS	1 lab	5946a35906
2:231067354 SP110 G>A	2	231067354	231067354	G	A	SP110	c.989C>T	NM_004509.4	NP_004500.4:p.(Thr330Met)	NC_000002.11:g.231067354G>A	(Likely) benign	1 lab	375cfaaf60
11:61067666 DDB1 C>T	11	61067666	61067666	C	T	DDB1	c.3365G>A	NM_001923.5	NP_001914.3:p.(Arg1122Gln)	NC_000011.9:g.61067666C>T	VUS	1 lab	594a936d66
4:82027000 PRKG2 C>T	4	82027000	82027000	C	T	PRKG2	c.2030G>A	NM_006259.3	NP_006250.1:p.(Arg677Gln)	NC_000004.11:g.82027000C>T	VUS	1 lab	594ae6e38b
2:32706513 BIRC6 G>T	2	32706513	32706513	G	T	BIRC6	c.7534G>T	NM_016252.4	NP_057336.3:p.(Val2512Phe)	NC_000002.11:g.32706513G>T	VUS	1 lab	594b0c9f0c
3:49662452 BSN G>C	3	49662452	49662452	G	C	BSN	c.269G>C	NM_003458.4	NP_003449.2:p.(Arg90Thr)	NC_000003.11:g.49662452G>C	VUS	1 lab	20b5dbf6ea
2:108488243 RGPD4 T>A	2	108488243	108488243	T	A	RGPD4	c.3783T>A	NM_182588.3	NP_872394.2:p.(Asp1261Glu)	NC_000002.11:g.108488243T>A	(Likely) benign	1 lab	594e66f208
19:42492666 ATP1A3 G>A	19	42492666	42492666	G	A	ATP1A3	c.55C>T	NM_152296.5	NP_689509.1:p.(Arg19Cys)	NC_000019.9:g.42492666G>A	VUS	1 lab	20b6e5de4d
6:160445627 IGF2R AGAGTT>A	6	160445627	160445635	AGAGTT	A	IGF2R	c.541_545del	NM_000876.4	NP_000867.3:p.(Leu181GlufsTer3)	NC_000006.11:g.160445631_160445635del	VUS	1 lab	594f4f4935
1:16910139 NBPF1 C>G	1	16910139	16910139	C	G	NBPF1	c.1041G>C	NM_001405666.3	NP_001392595.1:p.(Gln347His)	NC_000001.10:g.16910139C>G	(Likely) benign	1 lab	5951d9b85f
5:140958707 DIAPH1 C>T	5	140958707	140958707	C	T	DIAPH1	c.881G>A	NM_005219.5	NP_005210.3:p.(Arg294His)	NC_000005.9:g.140958707C>T	VUS	1 lab	5953c1199b
22:45133122 PRR5 G>A	22	45133122	45133122	G	A	PRR5	c.1162G>A	NM_181333.4	NP_851850.1:p.(Val388Met)	NC_000022.10:g.45133122G>A	VUS	1 lab	5953d8c1dd
1:226127681 LEFTY2 G>T	1	226127681	226127681	G	T	LEFTY2	c.272C>A	NM_003240.5	NP_003231.2:p.(Ala91Glu)	NC_000001.10:g.226127681G>T	VUS	1 lab	5954bc598b
6:90356265 MDN1 T>C	6	90356265	90356265	T	C	MDN1	c.16453A>G	NM_014611.3	NP_055426.1:p.(Ser5485Gly)	NC_000006.11:g.90356265T>C	VUS	1 lab	595520f53f
12:119909959 CCDC60 AC>A	12	119909959	119909961	AC	A	CCDC60	c.333del	NM_178499.5	NP_848594.2:p.(Leu112TyrfsTer2)	NC_000012.11:g.119909961del	(Likely) benign	1 lab	59573b22dc
8:100589808 VPS13B C>T	8	100589808	100589808	C	T	VPS13B	c.5167C>T	NM_152564.5	NP_689777.3:p.(Gln1723Ter)	NC_000008.10:g.100589808C>T	VUS	1 lab	5957d9c76b
7:73609553 EIF4H C>T	7	73609553	73609553	C	T	EIF4H	c.662C>T	NM_022170.2	NP_071496.1:p.(Pro221Leu)	NC_000007.13:g.73609553C>T	VUS	1 lab	5957e5dd77
17:36104842 HNF1B G>A	17	36104842	36104842	G	A	HNF1B	c.34C>T	NM_000458.4	NP_000449.1:p.(Leu12Phe)	NC_000017.10:g.36104842G>A	(Likely) pathogenic	1 lab	5958cd0b25
X:7243441 STS G>C	X	7243441	7243441	G	C	STS	c.1143G>C	NM_001320752.2	NP_001307681.2:p.(Arg381Ser)	NC_000023.10:g.7243441G>C	(Likely) benign	1 lab	5959cc685b
19:17535759 MVB12A T>C	19	17535759	17535759	T	C	MVB12A	c.779T>C	NM_138401.4	NP_612410.1:p.(Val260Ala)	NC_000019.9:g.17535759T>C	VUS	1 lab	595a04f2a6
1:223176433 DISP1 T>C	1	223176433	223176433	T	C	DISP1	c.1694T>C	NM_032890.5	NP_116279.2:p.(Ile565Thr)	NC_000001.10:g.223176433T>C	VUS	1 lab	20baa79bb2
20:56137798 PCK1 G>A	20	56137798	56137798	G	A	PCK1	c.453G>A	NM_002591.4	NP_002582.3:p.(Ser151=)	NC_000020.10:g.56137798G>A	(Likely) benign	1 lab	20bb2d8c97
6:7571625 DSP A>G	6	7571625	7571625	A	G	DSP	c.1711A>G	NM_004415.4	NP_004406.2:p.(Met571Val)	NC_000006.11:g.7571625A>G	VUS	1 lab	20c42e593f
18:30254652 KLHL14 TAA>T	18	30254652	30254654	TAA	T	KLHL14	c.1853_1854del	NM_020805.3	NP_065856.1:p.(Val618AspfsTer24)	NC_000018.9:g.30254653_30254654del	VUS	1 lab	595bb1f3d9
22:22142190 MAPK1 G>A	22	22142190	22142190	G	A	MAPK1	c.856+356C>T	NM_002745.5	NP_002736.3:p.?	NC_000022.10:g.22142190G>A	(Likely) benign	1 lab	595c2db305
1:179858480 TOR1AIP1 C>T	1	179858480	179858480	C	T	TOR1AIP1	c.586C>T	NM_015602.4	NP_056417.2:p.(Pro196Ser)	NC_000001.10:g.179858480C>T	VUS	1 lab	595c6c7b75
10:76788807 KAT6B G>A	10	76788807	76788807	G	A	KAT6B	c.4225G>A	NM_012330.4	NP_036462.2:p.(Glu1409Lys)	NC_000010.10:g.76788807G>A	(Likely) benign	1 lab	595c9253ea
2:33360021 LTBP1 C>T	2	33360021	33360021	C	T	LTBP1	c.1195C>T	NM_206943.4	NP_996826.3:p.(Arg399Ter)	NC_000002.11:g.33360021C>T	VUS	1 lab	595d4c7380
1:120484365 NOTCH2 T>C	1	120484365	120484365	T	C	NOTCH2	c.2765A>G	NM_024408.4	NP_077719.2:p.(Asn922Ser)	NC_000001.10:g.120484365T>C	VUS	1 lab	59620242f0
5:7878347 MTRR C>G	5	7878347	7878347	C	G	MTRR	c.692C>G	NM_002454.3	NP_002445.2:p.(Ser231Trp)	NC_000005.9:g.7878347C>G	VUS	1 lab	5962e6b5bc
22:17662772 ADA2 C>A	22	17662772	17662772	C	A	ADA2	c.1380G>T	NM_001282225.2	NP_001269154.1:p.(Met460Ile)	NC_000022.10:g.17662772C>A	VUS	1 lab	5963d89b7d
10:17130299 CUBN G>A	10	17130299	17130299	G	A	CUBN	c.1811C>T	NM_001081.4	NP_001072.2:p.(Pro604Leu)	NC_000010.10:g.17130299G>A	(Likely) benign	1 lab	5965cd7088
21:46888596 COL18A1 T>C	21	46888596	46888596	T	C	COL18A1	c.547T>C	NM_001379500.1	NP_001366429.1:p.(Phe183Leu)	NC_000021.8:g.46888596T>C	(Likely) benign	1 lab	59669a9e26
4:6303072 WFS1 G>A	4	6303072	6303072	G	A	WFS1	c.1550G>A	NM_006005.3	NP_005996.2:p.(Arg517His)	NC_000004.11:g.6303072G>A	VUS	1 lab	5967065ed5
14:20859780 TEP1 C>T	14	20859780	20859780	C	T	TEP1	c.2075G>A	NM_007110.5	NP_009041.2:p.(Cys692Tyr)	NC_000014.8:g.20859780C>T	VUS	1 lab	59674fb857
11:6653415 DCHS1 TGGGATCCTCAGACAAGC>T	11	6653415	6653435	TGGGATCCTCAGACAAGC	T	DCHS1	c.3311_3327del	NM_003737.4	NP_003728.1:p.(Arg1104HisfsTer7)	NC_000011.9:g.6653419_6653435del	VUS	1 lab	5967a5fb6f
2:62106090 CCT4 C>G	2	62106090	62106090	C	G	CCT4	c.436G>C	NM_006430.4	NP_006421.2:p.(Glu146Gln)	NC_000002.11:g.62106090C>G	VUS	1 lab	5968019c7c
2:48132714 FBXO11 G>T	2	48132714	48132714	G	T	FBXO11	c.146C>A	NM_001190274.2	NP_001177203.1:p.(Pro49Gln)	NC_000002.11:g.48132714G>T	(Likely) benign	1 lab	59689131ce
13:49039125 RB1 C>A	13	49039125	49039125	C	A	RB1	c.2212-9C>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039125C>A	(Likely) benign	1 lab	596ac112ff
1:35452789 ZMYM6 A>AT	1	35452789	35452796	A	AT	ZMYM6	c.3893dup	NM_007167.4	NP_009098.3:p.(Asn1298LysfsTer48)	NC_000001.10:g.35452796dup	VUS	1 lab	596c1f99c0
12:46245108 ARID2 CGTG>C	12	46245108	46245113	CGTG	C	ARID2	c.3205_3207del	NM_152641.4	NP_689854.2:p.(Gly1069del)	NC_000012.11:g.46245111_46245113del	VUS	1 lab	596d23868c
10:89505608 PAPSS2 A>C	10	89505608	89505608	A	C	PAPSS2	c.1741A>C	NM_001015880.2	NP_001015880.1:p.(Ile581Leu)	NC_000010.10:g.89505608A>C	VUS	1 lab	596d6f46bf
6:30627275 DHX16 G>C	6	30627275	30627275	G	C	DHX16	c.1981C>G	NM_003587.5	NP_003578.2:p.(Gln661Glu)	NC_000006.11:g.30627275G>C	(Likely) benign	1 lab	596dcead04
5:74931638 ANKDD1B G>A	5	74931638	74931638	G	A	ANKDD1B	c.729G>A	NM_001276713.2	NP_001263642.1:p.(Ala243=)	NC_000005.9:g.74931638G>A	VUS	1 lab	596e8fac63
17:9801479 RCVRN T>C	17	9801479	9801479	T	C	RCVRN	c.536A>G	NM_002903.3	NP_002894.1:p.(Asn179Ser)	NC_000017.10:g.9801479T>C	VUS	1 lab	596ed2a366
5:149756088 TCOF1 C>T	5	149756088	149756088	C	T	TCOF1	c.2245C>T	NM_001371623.1	NP_001358552.1:p.(Pro749Ser)	NC_000005.9:g.149756088C>T	(Likely) benign	1 lab	59728c87b5
5:31493407 DROSHA G>A	5	31493407	31493407	G	A	DROSHA	c.1756-7C>T	NM_001382508.1	NP_001369437.1:p.?	NC_000005.9:g.31493407G>A	(Likely) benign	1 lab	5972b1371f
19:50910352 POLD1 C>T	19	50910352	50910352	C	T	POLD1	c.1607C>T	NM_002691.4	NP_002682.2:p.(Ala536Val)	NC_000019.9:g.50910352C>T	VUS	1 lab	5973dceaa2
9:19357115 DENND4C A>T	9	19357115	19357115	A	T	DENND4C	c.4927A>T	NM_001330640.2	NP_001317569.1:p.(Ile1643Phe)	NC_000009.11:g.19357115A>T	(Likely) benign	1 lab	5974d20e04
4:1377697 UVSSA C>T	4	1377697	1377697	C	T	UVSSA	c.2005C>T	NM_020894.4	NP_065945.2:p.(Arg669Cys)	NC_000004.11:g.1377697C>T	VUS	1 lab	59783e12e7
19:7965785 LRRC8E TGGA>T	19	7965785	7965794	TGGA	T	LRRC8E	c.2385_2387del	NM_025061.6	NP_079337.2:p.(Glu796Ter)	NC_000019.9:g.7965792_7965794del	(Likely) benign	1 lab	5978b6e568
10:37481992 ANKRD30A A>G	10	37481992	37481992	A	G	ANKRD30A	c.2513A>G	NM_052997.3	NP_443723.3:p.(Glu838Gly)	NC_000010.10:g.37481992A>G	VUS	1 lab	5978ba3a70
15:37188837 MEIS2 T>C	15	37188837	37188837	T	C	MEIS2	c.1028A>G	NM_170675.5	NP_733775.1:p.(Asn343Ser)	NC_000015.9:g.37188837T>C	(Likely) benign	1 lab	5978f284b1
3:148559651 CPB1 C>A	3	148559651	148559651	C	A	CPB1	c.516C>A	NM_001871.3	NP_001862.2:p.(Asp172Glu)	NC_000003.11:g.148559651C>A	(Likely) benign	1 lab	597a2d0958
4:170601243 CLCN3 C>A	4	170601243	170601243	C	A	CLCN3	c.203C>A	NM_001829.4	NP_001820.2:p.(Ser68Tyr)	NC_000004.11:g.170601243C>A	VUS	1 lab	597c0ba2bd
11:65310966 LTBP3 G>A	11	65310966	65310966	G	A	LTBP3	c.2408C>T	NM_001130144.3	NP_001123616.1:p.(Thr803Met)	NC_000011.9:g.65310966G>A	VUS	1 lab	597ce4ae71
3:71027182 FOXP1 T>A	3	71027182	71027182	T	A	FOXP1	c.1147-2A>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71027182T>A	(Likely) pathogenic	1 lab	597db1eb93
7:156626446 LMBR1 C>T	7	156626446	156626446	C	T	LMBR1	c.179+1G>A	NM_022458.4	NP_071903.2:p.?	NC_000007.13:g.156626446C>T	VUS	1 lab	597e630e80
1:225394755 DNAH14 G>T	1	225394755	225394755	G	T	DNAH14	c.6272G>T	NM_001367479.1	NP_001354408.1:p.(Cys2091Phe)	NC_000001.10:g.225394755G>T	VUS	1 lab	597ebc0e18
1:39765967 MACF1 G>A	1	39765967	39765967	G	A	MACF1	c.2567G>A	NM_001394062.1	NP_001380991.1:p.(Arg856His)	NC_000001.10:g.39765967G>A	VUS	1 lab	597f2fbff1
1:17748783 RCC2 C>T	1	17748783	17748783	C	T	RCC2	c.660G>A	NM_018715.4	NP_061185.1:p.(Thr220=)	NC_000001.10:g.17748783C>T	(Likely) benign	1 lab	597f586af8
4:55958884 KDR G>C	4	55958884	55958884	G	C	KDR	c.2972-3C>G	NM_002253.4	NP_002244.1:p.?	NC_000004.11:g.55958884G>C	VUS	1 lab	597fc9115f
8:145741905 RECQL4 C>T	8	145741905	145741905	C	T	RECQL4	c.598G>A	NM_004260.4	NP_004251.4:p.(Asp200Asn)	NC_000008.10:g.145741905C>T	VUS	1 lab	5981150f00
19:47503832 ARHGAP35 A>C	19	47503832	47503832	A	C	ARHGAP35	c.4387A>C	NM_004491.5	NP_004482.4:p.(Thr1463Pro)	NC_000019.9:g.47503832A>C	VUS	1 lab	5981a7181c
7:73011550 MLXIPL C>T	7	73011550	73011550	C	T	MLXIPL	c.1565G>A	NM_032951.3	NP_116569.1:p.(Gly522Glu)	NC_000007.13:g.73011550C>T	(Likely) benign	1 lab	598206623e
2:15374832 NBAS G>A	2	15374832	15374832	G	A	NBAS	c.5983C>T	NM_015909.4	NP_056993.2:p.(Arg1995Ter)	NC_000002.11:g.15374832G>A	(Likely) pathogenic	1 lab	59830cee04
16:88804194 PIEZO1 G>A	16	88804194	88804194	G	A	PIEZO1	c.1049C>T	NM_001142864.4	NP_001136336.2:p.(Ala350Val)	NC_000016.9:g.88804194G>A	(Likely) benign	1 lab	598553a016
7:86990812 CROT C>T	7	86990812	86990812	C	T	CROT	c.347C>T	NM_021151.4	NP_066974.2:p.(Pro116Leu)	NC_000007.13:g.86990812C>T	(Likely) benign	1 lab	598788c048
17:725684 NXN C>T	17	725684	725684	C	T	NXN	c.626G>A	NM_022463.5	NP_071908.2:p.(Arg209Gln)	NC_000017.10:g.725684C>T	(Likely) benign	1 lab	5988511dac
19:13216395 TRMT1 CCCGGATGGTGAAG>C	19	13216395	13216408	CCCGGATGGTGAAG	C	TRMT1	c.1596_1608del	NM_001136035.4	NP_001129507.1:p.(Asn532LysfsTer123)	NC_000019.9:g.13216396_13216408del	VUS	1 lab	598877b8dc
12:88542151 TMTC3 A>G	12	88542151	88542151	A	G	TMTC3	c.59A>G	NM_181783.4	NP_861448.2:p.(Tyr20Cys)	NC_000012.11:g.88542151A>G	VUS	1 lab	598a7083f2
14:45644555 FANCM TA>T	14	45644555	45644561	TA	T	FANCM	c.2604del	NM_020937.4	NP_065988.1:p.(Glu869LysfsTer7)	NC_000014.8:g.45644561del	(Likely) pathogenic	1 lab	598b16d285
16:89260319 CDH15 GATGT>G	16	89260319	89260324	GATGT	G	CDH15	c.2151_2151+3del	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89260321_89260324del	VUS	1 lab	598bae600e
2:209104661 IDH1 T>G	2	209104661	209104661	T	G	IDH1	c.917A>C	NM_005896.4	NP_005887.2:p.(Glu306Ala)	NC_000002.11:g.209104661T>G	VUS	1 lab	598bd94013
X:38664654 MID1IP1 G>A	X	38664654	38664654	G	A	MID1IP1	c.455G>A	NM_021242.6	NP_067065.1:p.(Arg152His)	NC_000023.10:g.38664654G>A	VUS	1 lab	598c7a3316
19:41838174 TGFB1 C>T	19	41838174	41838174	C	T	TGFB1	c.873G>A	NM_000660.7	NP_000651.3:p.(Lys291=)	NC_000019.9:g.41838174C>T	(Likely) benign	1 lab	2196545e5d
9:139733490 RABL6 G>A	9	139733490	139733490	G	A	RABL6	c.1410G>A	NM_024718.5	NP_078994.3:p.(Ser470=)	NC_000009.11:g.139733490G>A	VUS	1 lab	598e84c7b7
11:78369320 TENM4 G>A	11	78369320	78369320	G	A	TENM4	c.8093C>T	NM_001098816.3	NP_001092286.2:p.(Ala2698Val)	NC_000011.9:g.78369320G>A	(Likely) benign	1 lab	20c597a22d
2:179603910 TTN C>T	2	179603910	179603910	C	T	TTN	c.14050G>A	NM_001267550.2	NP_001254479.2:p.(Gly4684Arg)	NC_000002.11:g.179603910C>T	VUS	1 lab	20c62900bd
21:46309950 ITGB2 A>G	21	46309950	46309950	A	G	ITGB2	c.1600T>C	NM_000211.5	NP_000202.3:p.(Cys534Arg)	NC_000021.8:g.46309950A>G	VUS	1 lab	598f936a42
16:2152129 PKD1 A>C	16	2152129	2152129	A	C	PKD1	c.9330T>G	NM_001009944.3	NP_001009944.3:p.(Pro3110=)	NC_000016.9:g.2152129A>C	(Likely) benign	1 lab	59913ed7da
16:2156233 PKD1 T>C	16	2156233	2156233	T	C	PKD1	c.7562A>G	NM_001009944.3	NP_001009944.3:p.(His2521Arg)	NC_000016.9:g.2156233T>C	VUS	1 lab	59922e1f9e
7:80546071 SEMA3C C>A	7	80546071	80546071	C	A	SEMA3C	c.27G>T	NM_006379.5	NP_006370.1:p.(Leu9Phe)	NC_000007.13:g.80546071C>A	(Likely) benign	1 lab	5993e1bc61
7:34125420 BMPER G>T	7	34125420	34125420	G	T	BMPER	c.1461G>T	NM_133468.5	NP_597725.1:p.(Pro487=)	NC_000007.13:g.34125420G>T	(Likely) benign	1 lab	20c6bcb431
1:225600213 LBR A>G	1	225600213	225600213	A	G	LBR	c.1027T>C	NM_002296.4	NP_002287.2:p.(Tyr343His)	NC_000001.10:g.225600213A>G	VUS	1 lab	5995918ae1
12:2558145 CACNA1C C>T	12	2558145	2558145	C	T	CACNA1C	c.481C>T	NM_000719.7	NP_000710.5:p.(Arg161Ter)	NC_000012.11:g.2558145C>T	(Likely) pathogenic	1 lab	5998a560dc
1:7725114 CAMTA1 C>T	1	7725114	7725114	C	T	CAMTA1	c.2507C>T	NM_015215.4	NP_056030.1:p.(Ser836Leu)	NC_000001.10:g.7725114C>T	(Likely) benign	1 lab	5998c523e9
16:1268566 CACNA1H C>G	16	1268566	1268566	C	G	CACNA1H	c.5802C>G	NM_021098.3	NP_066921.2:p.(Phe1934Leu)	NC_000016.9:g.1268566C>G	VUS	1 lab	599b34bfe7
8:59323996 UBXN2B G>C	8	59323996	59323996	G	C	UBXN2B	c.52G>C	NM_001077619.2	NP_001071087.1:p.(Gly18Arg)	NC_000008.10:g.59323996G>C	(Likely) benign	1 lab	599beafaed
19:14262295 ADGRL1 C>T	19	14262295	14262295	C	T	ADGRL1	c.3800G>A	NM_014921.5	NP_055736.2:p.(Arg1267Gln)	NC_000019.9:g.14262295C>T	VUS	1 lab	599e39d736
11:34101309 CAPRIN1 G>A	11	34101309	34101309	G	A	CAPRIN1	c.823G>A	NM_005898.5	NP_005889.3:p.(Ala275Thr)	NC_000011.9:g.34101309G>A	VUS	1 lab	599f2e38af
2:220075526 ABCB6 G>A	2	220075526	220075526	G	A	ABCB6	c.2163C>T	NM_005689.4	NP_005680.1:p.(Gly721=)	NC_000002.11:g.220075526G>A	(Likely) benign	1 lab	599fa9ab4a
14:45636336 FANCM C>T	14	45636336	45636336	C	T	FANCM	c.1972C>T	NM_020937.4	NP_065988.1:p.(Arg658Ter)	NC_000014.8:g.45636336C>T	(Likely) pathogenic	1 lab	59a190d509
2:179575869 TTN C>T	2	179575869	179575869	C	T	TTN	c.28094G>A	NM_001267550.2	NP_001254479.2:p.(Arg9365Gln)	NC_000002.11:g.179575869C>T	(Likely) benign	1 lab	59a3e3350e
17:47126752 IGF2BP1 T>A	17	47126752	47126752	T	A	IGF2BP1	c.1680T>A	NM_006546.4	NP_006537.3:p.(Val560=)	NC_000017.10:g.47126752T>A	(Likely) benign	1 lab	59a46d5150
19:11328021 DOCK6 GTC>G	19	11328021	11328024	GTC	G	DOCK6	c.3595_3596del	NM_020812.4	NP_065863.2:p.(Asp1199HisfsTer49)	NC_000019.9:g.11328023_11328024del	VUS	1 lab	59a577d246
17:36666640 ARHGAP23 G>T	17	36666640	36666640	G	T	ARHGAP23	c.3908G>T	NM_001199417.2	NP_001186346.1:p.(Arg1303Leu)	NC_000017.10:g.36666640G>T	(Likely) benign	1 lab	59a59ca41d
1:158517415 OR6Y1 C>A	1	158517415	158517415	C	A	OR6Y1	c.481G>T	NM_001005189.2	NP_001005189.1:p.(Ala161Ser)	NC_000001.10:g.158517415C>A	VUS	1 lab	59a69e897f
1:173822471 DARS2 C>T	1	173822471	173822471	C	T	DARS2	c.1345-16C>T	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173822471C>T	(Likely) benign	1 lab	59a72b00b1
4:85699781 WDFY3 GT>G	4	85699781	85699784	GT	G	WDFY3	c.4392del	NM_014991.6	NP_055806.2:p.(Lys1464AsnfsTer12)	NC_000004.11:g.85699784del	VUS	1 lab	59a8205d8a
1:152084651 TCHH C>T	1	152084651	152084651	C	T	TCHH	c.1042G>A	NM_007113.4	NP_009044.2:p.(Glu348Lys)	NC_000001.10:g.152084651C>T	VUS	1 lab	59a8bd34d1
9:6533142 GLDC T>C	9	6533142	6533142	T	C	GLDC	c.2938A>G	NM_000170.3	NP_000161.2:p.(Asn980Asp)	NC_000009.11:g.6533142T>C	(Likely) pathogenic	1 lab	59a933448c
16:2160380 PKD1 G>A	16	2160380	2160380	G	A	PKD1	c.4788C>T	NM_001009944.3	NP_001009944.3:p.(Thr1596=)	NC_000016.9:g.2160380G>A	(Likely) benign	1 lab	59acca60fe
3:129177462 IFT122 T>G	3	129177462	129177462	T	G	IFT122	c.214T>G	NM_052989.3	NP_443715.1:p.(Ser72Ala)	NC_000003.11:g.129177462T>G	(Likely) benign	1 lab	59ad47b423
X:135080623 SLC9A6 CT>C	X	135080623	135080635	CT	C	SLC9A6	c.448-6del	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135080635del	(Likely) benign	1 lab	219c1bb480
5:42629168 GHR C>G	5	42629168	42629168	C	G	GHR	c.99C>G	NM_000163.5	NP_000154.1:p.(Pro33=)	NC_000005.9:g.42629168C>G	(Likely) benign	1 lab	59ada238ff
15:75656954 MAN2C1 C>T	15	75656954	75656954	C	T	MAN2C1	c.475G>A	NM_006715.4	NP_006706.2:p.(Gly159Arg)	NC_000015.9:g.75656954C>T	VUS	1 lab	59b14ead65
11:47354875 MYBPC3 C>G	11	47354875	47354875	C	G	MYBPC3	c.3200G>C	NM_000256.3	NP_000247.2:p.(Ser1067Thr)	NC_000011.9:g.47354875C>G	VUS	1 lab	219d86f9ce
2:240002848 HDAC4 G>C	2	240002848	240002848	G	C	HDAC4	c.2693C>G	NM_001378414.1	NP_001365343.1:p.(Ala898Gly)	NC_000002.11:g.240002848G>C	VUS	1 lab	59b163e487
1:155583257 MSTO1 C>G	1	155583257	155583257	C	G	MSTO1	c.1288C>G	NM_018116.4	NP_060586.2:p.(Leu430Val)	NC_000001.10:g.155583257C>G	VUS	1 lab	20c87ab8c8
22:45996267 FBLN1 G>A	22	45996267	45996267	G	A	FBLN1	c.2053G>A	NM_006486.3	NP_006477.3:p.(Val685Met)	NC_000022.10:g.45996267G>A	(Likely) benign	1 lab	59b25ffd8f
16:1556969 TELO2 G>C	16	1556969	1556969	G	C	TELO2	c.2143G>C	NM_016111.4	NP_057195.2:p.(Asp715His)	NC_000016.9:g.1556969G>C	VUS	1 lab	59b2e2a148
2:241728705 KIF1A T>C	2	241728705	241728705	T	C	KIF1A	c.131A>G	NM_001244008.2	NP_001230937.1:p.(Lys44Arg)	NC_000002.11:g.241728705T>C	VUS	1 lab	59b5c3e0ec
10:51851948 WASHC2A C>T	10	51851948	51851948	C	T	WASHC2A	c.958C>T	NM_001005751.3	NP_001005751.1:p.(Arg320Trp)	NC_000010.10:g.51851948C>T	(Likely) benign	1 lab	59b5f67b42
3:33114153 GLB1 T>C	3	33114153	33114153	T	C	GLB1	c.128A>G	NM_000404.4	NP_000395.3:p.(Lys43Arg)	NC_000003.11:g.33114153T>C	VUS	1 lab	59b70ae95c
6:107824930 SOBP G>A	6	107824930	107824930	G	A	SOBP	c.166G>A	NM_018013.4	NP_060483.3:p.(Gly56Ser)	NC_000006.11:g.107824930G>A	(Likely) benign	1 lab	59b81cafce
9:129455402 LMX1B C>T	9	129455402	129455402	C	T	LMX1B	c.560-19C>T	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129455402C>T	(Likely) benign	1 lab	21a2d4e66b
1:22211602 HSPG2 C>T	1	22211602	22211602	C	T	HSPG2	c.1259G>A	NM_005529.7	NP_005520.4:p.(Arg420Gln)	NC_000001.10:g.22211602C>T	(Likely) benign	1 lab	59ba3fed7c
1:104070321 RNPC3 A>T	1	104070321	104070321	A	T	RNPC3	c.197A>T	NM_017619.4	NP_060089.1:p.(His66Leu)	NC_000001.10:g.104070321A>T	VUS	1 lab	59ba979d2e
2:88883058 EIF2AK3 T>C	2	88883058	88883058	T	C	EIF2AK3	c.1653A>G	NM_004836.7	NP_004827.4:p.(Gln551=)	NC_000002.11:g.88883058T>C	(Likely) benign	1 lab	59bb8be922
17:29446175 NF1 G>A	17	29446175	29446175	G	A	NF1	c.60+23788G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29446175G>A	VUS	1 lab	59bce7c597
20:44523447 CTSA C>T	20	44523447	44523447	C	T	CTSA	c.870-15C>T	NM_000308.4	NP_000299.3:p.?	NC_000020.10:g.44523447C>T	(Likely) benign	1 lab	59bd4eb15c
22:45938088 FBLN1 G>A	22	45938088	45938088	G	A	FBLN1	c.1120G>A	NM_006486.3	NP_006477.3:p.(Val374Met)	NC_000022.10:g.45938088G>A	(Likely) benign	1 lab	59bd6f4f52
16:88779746 CTU2 G>C	16	88779746	88779746	G	C	CTU2	c.764G>C	NM_001012759.3	NP_001012777.1:p.(Arg255Pro)	NC_000016.9:g.88779746G>C	VUS	1 lab	59bd9d52c3
2:179440799 TTN G>C	2	179440799	179440799	G	C	TTN	c.70060C>G	NM_001267550.2	NP_001254479.2:p.(Leu23354Val)	NC_000002.11:g.179440799G>C	VUS	1 lab	59bef9c139
16:2107148 TSC2 A>G	16	2107148	2107148	A	G	TSC2	c.817A>G	NM_000548.5	NP_000539.2:p.(Ile273Val)	NC_000016.9:g.2107148A>G	VUS	1 lab	59c009a0e8
6:163899810 QKI A>T	6	163899810	163899810	A	T	QKI	c.286-2A>T	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163899810A>T	(Likely) benign	1 lab	59c069261c
1:226128782 LEFTY2 G>A	1	226128782	226128782	G	A	LEFTY2	c.59C>T	NM_003240.5	NP_003231.2:p.(Ala20Val)	NC_000001.10:g.226128782G>A	(Likely) benign	1 lab	59c1bd25a4
16:2121819 TSC2 G>A	16	2121819	2121819	G	A	TSC2	c.1981G>A	NM_000548.5	NP_000539.2:p.(Gly661Ser)	NC_000016.9:g.2121819G>A	(Likely) benign	1 lab	59c2d5e668
4:85612822 WDFY3 C>T	4	85612822	85612822	C	T	WDFY3	c.9166G>A	NM_014991.6	NP_055806.2:p.(Asp3056Asn)	NC_000004.11:g.85612822C>T	VUS	1 lab	59c304738e
8:144998683 PLEC C>T	8	144998683	144998683	C	T	PLEC	c.5414G>A	NM_201384.3	NP_958786.1:p.(Arg1805His)	NC_000008.10:g.144998683C>T	(Likely) benign	1 lab	59c375d875
7:100850055 PLOD3 C>T	7	100850055	100850055	C	T	PLOD3	c.2061+5G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100850055C>T	(Likely) benign	1 lab	59c3ffe8ab
5:37045673 NIPBL C>A	5	37045673	37045673	C	A	NIPBL	c.6472C>A	NM_133433.4	NP_597677.2:p.(Leu2158Met)	NC_000005.9:g.37045673C>A	VUS	1 lab	59c60a745d
6:152690707 SYNE1 G>T	6	152690707	152690707	G	T	SYNE1	c.9550C>A	NM_182961.4	NP_892006.3:p.(Pro3184Thr)	NC_000006.11:g.152690707G>T	(Likely) benign	1 lab	59c896b0a6
9:27183479 TEK G>C	9	27183479	27183479	G	C	TEK	c.1053G>C	NM_000459.5	NP_000450.3:p.(Lys351Asn)	NC_000009.11:g.27183479G>C	(Likely) benign	1 lab	59c906633b
4:16165136 TAPT1 G>A	4	16165136	16165136	G	A	TAPT1	c.1499C>T	NM_153365.3	NP_699196.2:p.(Ser500Phe)	NC_000004.11:g.16165136G>A	VUS	1 lab	59c9f097bc
3:183474466 YEATS2 C>T	3	183474466	183474466	C	T	YEATS2	c.1541C>T	NM_018023.5	NP_060493.3:p.(Thr514Ile)	NC_000003.11:g.183474466C>T	(Likely) benign	1 lab	20cd02e501
19:51190928 SHANK1 G>C	19	51190928	51190928	G	C	SHANK1	c.2309-9C>G	NM_016148.5	NP_057232.2:p.?	NC_000019.9:g.51190928G>C	VUS	1 lab	59ca21041f
15:63958204 HERC1 C>T	15	63958204	63958204	C	T	HERC1	c.8469G>A	NM_003922.4	NP_003913.3:p.(Gly2823=)	NC_000015.9:g.63958204C>T	(Likely) benign	1 lab	59cbf42927
4:1803385 FGFR3 G>C	4	1803385	1803385	G	C	FGFR3	c.654G>C	NM_000142.5	NP_000133.1:p.(Val218=)	NC_000004.11:g.1803385G>C	(Likely) benign	1 lab	59cc8873e0
6:32557486 HLA-DRB1 T>A	6	32557486	32557486	T	A	HLA-DRB1	c.34A>T	NM_002124.4	NP_002115.2:p.(Met12Leu)	NC_000006.11:g.32557486T>A	(Likely) benign	1 lab	59ccaf02e9
2:152348723 NEB G>A	2	152348723	152348723	G	A	NEB	c.24946C>T	NM_001164508.2	NP_001157980.2:p.(Arg8316Ter)	NC_000002.11:g.152348723G>A	(Likely) pathogenic	1 lab	59d00a08e2
1:55075518 ACOT11 G>A	1	55075518	55075518	G	A	ACOT11	c.*733G>A	NM_147161.4	NP_671517.1:p.?	NC_000001.10:g.55075518G>A	VUS	1 lab	59d0145f7e
19:38795554 YIF1B AAGG>A	19	38795554	38795559	AAGG	A	YIF1B	c.*435_*437del	NM_001039672.3	NP_001034761.1:p.?	NC_000019.9:g.38795557_38795559del	VUS	1 lab	59d1bc8a72
16:1660859 IFT140 A>G	16	1660859	1660859	A	G	IFT140	c.-221-5T>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1660859A>G	(Likely) benign	1 lab	59d3cda9fa
3:47164714 SETD2 C>T	3	47164714	47164714	C	T	SETD2	c.1412G>A	NM_014159.7	NP_054878.5:p.(Arg471Lys)	NC_000003.11:g.47164714C>T	(Likely) benign	1 lab	59d40acd82
3:132426977 NPHP3 C>A	3	132426977	132426977	C	A	NPHP3	c.1243G>T	NM_153240.5	NP_694972.3:p.(Val415Phe)	NC_000003.11:g.132426977C>A	VUS	1 lab	59d5da85f6
7:148524308 EZH2 C>T	7	148524308	148524308	C	T	EZH2	c.676G>A	NM_004456.5	NP_004447.2:p.(Ala226Thr)	NC_000007.13:g.148524308C>T	VUS	1 lab	59d77a1800
19:49376875 PPP1R15A G>A	19	49376875	49376875	G	A	PPP1R15A	c.385G>A	NM_014330.5	NP_055145.3:p.(Gly129Arg)	NC_000019.9:g.49376875G>A	(Likely) benign	1 lab	59d9f1ad73
1:1469384 ATAD3A C>T	1	1469384	1469384	C	T	ATAD3A	c.1693C>T	NM_001170535.3	NP_001164006.1:p.(His565Tyr)	NC_000001.10:g.1469384C>T	VUS	1 lab	59da4623c3
9:139734943 RABL6 A>C	9	139734943	139734943	A	C	RABL6	c.2159A>C	NM_024718.5	NP_078994.3:p.(His720Pro)	NC_000009.11:g.139734943A>C	(Likely) benign	1 lab	59da4ef2cb
17:26087654 NOS2 T>C	17	26087654	26087654	T	C	NOS2	c.3005A>G	NM_000625.4	NP_000616.3:p.(His1002Arg)	NC_000017.10:g.26087654T>C	(Likely) benign	1 lab	21a3d44b7a
10:81067267 ZMIZ1 C>T	10	81067267	81067267	C	T	ZMIZ1	c.2774C>T	NM_020338.4	NP_065071.1:p.(Pro925Leu)	NC_000010.10:g.81067267C>T	VUS	1 lab	59dde47647
9:35792815 NPR2 G>A	9	35792815	35792815	G	A	NPR2	c.410G>A	NM_003995.4	NP_003986.2:p.(Arg137His)	NC_000009.11:g.35792815G>A	VUS	1 lab	59de42cfef
11:108188135 ATM C>T	11	108188135	108188135	C	T	ATM	c.6234C>T	NM_000051.4	NP_000042.3:p.(Ser2078=)	NC_000011.9:g.108188135C>T	VUS	1 lab	59e02486d7
9:40705613 SPATA31A3 A>C	9	40705613	40705613	A	C	SPATA31A3	c.3270A>C	NM_001083124.1	NP_001076593.1:p.(Lys1090Asn)	NC_000009.11:g.40705613A>C	(Likely) benign	1 lab	59e29a5520
4:88967833 PKD2 A>G	4	88967833	88967833	A	G	PKD2	c.1359A>G	NM_000297.4	NP_000288.1:p.(Pro453=)	NC_000004.11:g.88967833A>G	(Likely) benign	1 lab	21a4cbd8b8
11:58920879 FAM111A T>C	11	58920879	58920879	T	C	FAM111A	c.1738T>C	NM_001312909.2	NP_001299838.1:p.(Ser580Pro)	NC_000011.9:g.58920879T>C	(Likely) benign	1 lab	59e4aed5c0
1:45798809 MUTYH TG>T	1	45798809	45798812	TG	T	MUTYH	c.337del	NM_001048174.2	NP_001041639.1:p.(Gln113ArgfsTer5)	NC_000001.10:g.45798812del	(Likely) pathogenic	1 lab	59e5fb5269
4:157999150 GLRB C>A	4	157999150	157999150	C	A	GLRB	c.-27C>A	NM_000824.5	NP_000815.1:p.?	NC_000004.11:g.157999150C>A	VUS	1 lab	59e726bd00
11:2186998 TH G>A	11	2186998	2186998	G	A	TH	c.1105-5C>T	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2186998G>A	(Likely) benign	1 lab	59e941cf3b
X:153994484 DKC1 A>T	X	153994484	153994484	A	T	DKC1	c.264-7A>T	NM_001363.5	NP_001354.1:p.?	NC_000023.10:g.153994484A>T	(Likely) benign	1 lab	59ea9d46ae
19:1484129 PCSK4 G>A	19	1484129	1484129	G	A	PCSK4	c.1069-3C>T	NM_017573.5	NP_060043.2:p.?	NC_000019.9:g.1484129G>A	(Likely) benign	1 lab	59eaae2ed2
17:27042301 RAB34 T>G	17	27042301	27042301	T	G	RAB34	c.432-7A>C	NM_031934.6	NP_114140.4:p.?	NC_000017.10:g.27042301T>G	(Likely) benign	1 lab	59eb71a9d1
8:144893130 SCRIB C>G	8	144893130	144893130	C	G	SCRIB	c.1219G>C	NM_182706.5	NP_874365.3:p.(Gly407Arg)	NC_000008.10:g.144893130C>G	VUS	1 lab	59eb86b9ac
3:25761045 NGLY1 TCAC>T	3	25761045	25761050	TCAC	T	NGLY1	c.1868_1870del	NM_018297.4	NP_060767.2:p.(Gly623del)	NC_000003.11:g.25761048_25761050del	VUS	1 lab	59ee5d2291
10:135107255 TUBGCP2 G>A	10	135107255	135107255	G	A	TUBGCP2	c.635C>T	NM_006659.4	NP_006650.1:p.(Ser212Leu)	NC_000010.10:g.135107255G>A	VUS	1 lab	59f203cb71
1:3789061 DFFB T>C	1	3789061	3789061	T	C	DFFB	c.707T>C	NM_004402.4	NP_004393.1:p.(Leu236Ser)	NC_000001.10:g.3789061T>C	VUS	1 lab	59f2c14ace
12:30827620 IPO8 A>T	12	30827620	30827620	A	T	IPO8	c.797T>A	NM_006390.4	NP_006381.2:p.(Leu266Gln)	NC_000012.11:g.30827620A>T	VUS	1 lab	59f36996f4
9:135946010 CEL C>T	9	135946010	135946010	C	T	CEL	c.1449C>T	NM_001807.6	NP_001798.3:p.(Ala483=)	NC_000009.11:g.135946010C>T	(Likely) benign	1 lab	59f3f6908c
1:16259864 SPEN C>T	1	16259864	16259864	C	T	SPEN	c.7129C>T	NM_015001.3	NP_055816.2:p.(His2377Tyr)	NC_000001.10:g.16259864C>T	VUS	1 lab	59f3fb552e
1:152279816 FLG G>T	1	152279816	152279816	G	T	FLG	c.7546C>A	NM_002016.2	NP_002007.1:p.(Gln2516Lys)	NC_000001.10:g.152279816G>T	(Likely) benign	1 lab	59f4601200
3:47125398 SETD2 C>G	3	47125398	47125398	C	G	SETD2	c.5872G>C	NM_014159.7	NP_054878.5:p.(Ala1958Pro)	NC_000003.11:g.47125398C>G	(Likely) benign	1 lab	59f6e7aee2
9:117186677 WHRN A>G	9	117186677	117186677	A	G	WHRN	c.1353T>C	NM_015404.4	NP_056219.3:p.(Gly451=)	NC_000009.11:g.117186677A>G	(Likely) benign	1 lab	20ce07996c
17:4641742 CXCL16 G>C	17	4641742	4641742	G	C	CXCL16	c.262C>G	NM_001386809.1	NP_001373738.1:p.(Pro88Ala)	NC_000017.10:g.4641742G>C	(Likely) benign	1 lab	59f96445e9
6:50807995 TFAP2B T>C	6	50807995	50807995	T	C	TFAP2B	c.1067T>C	NM_003221.4	NP_003212.2:p.(Met356Thr)	NC_000006.11:g.50807995T>C	VUS	1 lab	59fa288933
12:125470762 DHX37 C>T	12	125470762	125470762	C	T	DHX37	c.156G>A	NM_032656.4	NP_116045.2:p.(Pro52=)	NC_000012.11:g.125470762C>T	VUS	1 lab	59fb549fc1
3:18436372 SATB1 C>A	3	18436372	18436372	C	A	SATB1	c.788G>T	NM_002971.6	NP_002962.1:p.(Gly263Val)	NC_000003.11:g.18436372C>A	VUS	1 lab	5ad76f176f
X:128937941 ZDHHC9 G>A	X	128937941	128937941	G	A	ZDHHC9	c.*2405C>T	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128937941G>A	VUS	1 lab	20d0f259e8
3:47165538 SETD2 AGGTGGAGGC>A	3	47165538	47165558	AGGTGGAGGC	A	SETD2	c.579_587del	NM_014159.7	NP_054878.5:p.(Pro194_Pro196del)	NC_000003.11:g.47165550_47165558del	(Likely) benign	1 lab	59fc159944
13:32949533 BRCA2 A>G	13	32949533	32949533	A	G	BRCA2	c.8633-1274A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32949533A>G	(Likely) benign	1 lab	21a701b853
1:120459002 NOTCH2 T>C	1	120459002	120459002	T	C	NOTCH2	c.6343A>G	NM_024408.4	NP_077719.2:p.(Ser2115Gly)	NC_000001.10:g.120459002T>C	(Likely) benign	1 lab	5a004acbb9
14:64727170 ESR2 G>C	14	64727170	64727170	G	C	ESR2	c.949C>G	NM_001437.3	NP_001428.1:p.(Pro317Ala)	NC_000014.8:g.64727170G>C	VUS	1 lab	5a00d09e30
14:74971701 LTBP2 G>A	14	74971701	74971701	G	A	LTBP2	c.4354C>T	NM_000428.3	NP_000419.1:p.(Pro1452Ser)	NC_000014.8:g.74971701G>A	VUS	1 lab	5a021e2287
22:42611299 TCF20 G>C	22	42611299	42611299	G	C	TCF20	c.13C>G	NM_001378418.1	NP_001365347.1:p.(Arg5Gly)	NC_000022.10:g.42611299G>C	VUS	1 lab	5a051c7d6a
13:114098890 ADPRHL1 C>T	13	114098890	114098890	C	T	ADPRHL1	c.229G>A	NM_001394807.1	NP_001381736.1:p.(Asp77Asn)	NC_000013.10:g.114098890C>T	VUS	1 lab	5a05edacf8
8:61743118 CHD7 C>G	8	61743118	61743118	C	G	CHD7	c.3760C>G	NM_017780.4	NP_060250.2:p.(His1254Asp)	NC_000008.10:g.61743118C>G	(Likely) pathogenic	1 lab	5a061951af
11:82888182 PCF11 A>G	11	82888182	82888182	A	G	PCF11	c.4206A>G	NM_001346413.3	NP_001333342.1:p.(Glu1402=)	NC_000011.9:g.82888182A>G	(Likely) benign	1 lab	5a06f83277
12:20522796 PDE3A T>C	12	20522796	20522796	T	C	PDE3A	c.578T>C	NM_000921.5	NP_000912.3:p.(Val193Ala)	NC_000012.11:g.20522796T>C	(Likely) benign	1 lab	5a07ee49e3
9:139735079 RABL6 G>A	9	139735079	139735079	G	A	RABL6	c.*105G>A	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139735079G>A	(Likely) benign	1 lab	5a08634bfc
11:35016501 PDHX G>A	11	35016501	35016501	G	A	PDHX	c.1288G>A	NM_003477.3	NP_003468.2:p.(Ala430Thr)	NC_000011.9:g.35016501G>A	VUS	1 lab	5a0923c35d
8:97156880 GDF6 G>A	8	97156880	97156880	G	A	GDF6	c.1279C>T	NM_001001557.4	NP_001001557.1:p.(Pro427Ser)	NC_000008.10:g.97156880G>A	(Likely) pathogenic	1 lab	5a0a4b6a9c
9:135983693 RALGDS T>TGGCTCC	9	135983693	135983701	T	TGGCTCC	RALGDS	c.873_878dup	NM_006266.4	NP_006257.1:p.(Glu294_Pro295dup)	NC_000009.11:g.135983696_135983701dup	(Likely) benign	1 lab	5a0abc6cf1
15:89401275 ACAN CGAGTGGCA>C	15	89401275	89401284	CGAGTGGCA	C	ACAN	c.5461_5468del	NM_001369268.1	NP_001356197.1:p.(Ser1821ArgfsTer2)	NC_000015.9:g.89401277_89401284del	(Likely) pathogenic	1 lab	5a0b5656a9
5:126147591 LMNB1 G>A	5	126147591	126147591	G	A	LMNB1	c.939+1G>A	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126147591G>A	(Likely) pathogenic	1 lab	5a0d33a5f0
15:91346764 BLM A>G	15	91346764	91346764	A	G	BLM	c.3372A>G	NM_000057.2	NP_000048.1:p.(Ala1124=)	NC_000015.9:g.91346764A>G	(Likely) benign	1 lab	21af95eeb2
18:10807177 PIEZO2 G>A	18	10807177	10807177	G	A	PIEZO2	c.1013C>T	NM_001378183.1	NP_001365112.1:p.(Pro338Leu)	NC_000018.9:g.10807177G>A	VUS	1 lab	5a0f23d284
3:48638472 UQCRC1 T>C	3	48638472	48638472	T	C	UQCRC1	c.902A>G	NM_003365.3	NP_003356.2:p.(Asn301Ser)	NC_000003.11:g.48638472T>C	(Likely) benign	1 lab	20d5f968e9
2:202598005 ALS2 A>T	2	202598005	202598005	A	T	ALS2	c.2574T>A	NM_020919.4	NP_065970.2:p.(Phe858Leu)	NC_000002.11:g.202598005A>T	(Likely) benign	1 lab	5a18a785b2
17:42635873 FZD2 T>C	17	42635873	42635873	T	C	FZD2	c.817T>C	NM_001466.4	NP_001457.1:p.(Phe273Leu)	NC_000017.10:g.42635873T>C	VUS	1 lab	5a1989e601
20:62850363 MYT1 C>T	20	62850363	62850363	C	T	MYT1	c.1946C>T	NM_004535.3	NP_004526.1:p.(Thr649Met)	NC_000020.10:g.62850363C>T	(Likely) benign	1 lab	5a1a1284a5
11:62397071 GANAB G>A	11	62397071	62397071	G	A	GANAB	c.1823C>T	NM_198334.3	NP_938148.1:p.(Ser608Phe)	NC_000011.9:g.62397071G>A	VUS	1 lab	5a1a3798dd
2:208994197 CRYGC C>T	2	208994197	208994197	C	T	CRYGC	c.220G>A	NM_020989.4	NP_066269.1:p.(Asp74Asn)	NC_000002.11:g.208994197C>T	VUS	1 lab	5a1a7ab32b
12:57970626 KIF5A A>G	12	57970626	57970626	A	G	KIF5A	c.2281A>G	NM_004984.4	NP_004975.2:p.(Thr761Ala)	NC_000012.11:g.57970626A>G	VUS	1 lab	5a1b444114
4:8443174 TRMT44 A>G	4	8443174	8443174	A	G	TRMT44	c.619+6A>G	NM_152544.3	NP_689757.2:p.?	NC_000004.11:g.8443174A>G	(Likely) benign	1 lab	5a1c3435ac
10:115381746 NRAP C>T	10	115381746	115381746	C	T	NRAP	c.2651G>A	NM_001261463.1	NP_001248392.1:p.(Arg884His)	NC_000010.10:g.115381746C>T	VUS	1 lab	21b95b7239
6:117996931 NUS1 G>A	6	117996931	117996931	G	A	NUS1	c.98G>A	NM_138459.5	NP_612468.1:p.(Trp33Ter)	NC_000006.11:g.117996931G>A	(Likely) pathogenic	1 lab	5a1d207545
10:76788510 KAT6B G>C	10	76788510	76788510	G	C	KAT6B	c.3928G>C	NM_012330.4	NP_036462.2:p.(Glu1310Gln)	NC_000010.10:g.76788510G>C	(Likely) benign	1 lab	5a201f03c0
1:162746138 DDR2 T>C	1	162746138	162746138	T	C	DDR2	c.2261T>C	NM_006182.4	NP_006173.2:p.(Met754Thr)	NC_000001.10:g.162746138T>C	VUS	1 lab	5a216c0d94
7:34097686 BMPER T>C	7	34097686	34097686	T	C	BMPER	c.943T>C	NM_001365308.1	NP_001352237.1:p.(Ser315Pro)	NC_000007.13:g.34097686T>C	VUS	1 lab	5a237fd46d
18:12337348 AFG3L2 C>T	18	12337348	12337348	C	T	AFG3L2	c.2167G>A	NM_006796.3	NP_006787.2:p.(Val723Met)	NC_000018.9:g.12337348C>T	VUS	1 lab	5a248f939f
9:140811893 CACNA1B G>A	9	140811893	140811893	G	A	CACNA1B	c.966+10G>A	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140811893G>A	(Likely) benign	1 lab	5a24d6b29a
8:145004551 PLEC C>T	8	145004551	145004551	C	T	PLEC	c.2457+1G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145004551C>T	(Likely) pathogenic	1 lab	5a264f4bf7
11:17464808 ABCC8 T>C	11	17464808	17464808	T	C	ABCC8	c.1384A>G	NM_000352.6	NP_000343.2:p.(Ile462Val)	NC_000011.9:g.17464808T>C	(Likely) benign	1 lab	5a2840e50d
3:139097931 COPB2 T>A	3	139097931	139097931	T	A	COPB2	c.313A>T	NM_004766.3	NP_004757.1:p.(Ile105Phe)	NC_000003.11:g.139097931T>A	VUS	1 lab	5a37508a55
22:21346031 LZTR1 G>A	22	21346031	21346031	G	A	LZTR1	c.906G>A	NM_006767.4	NP_006758.2:p.(Ala302=)	NC_000022.10:g.21346031G>A	VUS	1 lab	5a2974ced8
9:712529 KANK1 T>C	9	712529	712529	T	C	KANK1	c.1763T>C	NM_015158.5	NP_055973.2:p.(Met588Thr)	NC_000009.11:g.712529T>C	(Likely) benign	1 lab	5a2a2e96a3
X:57020638 SPIN3 T>C	X	57020638	57020638	T	C	SPIN3	c.743A>G	NM_001010862.3	NP_001010862.2:p.(His248Arg)	NC_000023.10:g.57020638T>C	VUS	1 lab	5a2ae79d0d
12:7172609 C1S T>A	12	7172609	7172609	T	A	C1S	c.717+6T>A	NM_001734.5	NP_001725.1:p.?	NC_000012.11:g.7172609T>A	VUS	1 lab	5aec95d68a
17:7416077 POLR2A TTC>T	17	7416077	7416083	TTC	T	POLR2A	c.4607-11_4607-10del	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7416082_7416083del	(Likely) benign	1 lab	5a2ba7d826
1:63027296 DOCK7 G>A	1	63027296	63027296	G	A	DOCK7	c.2191C>T	NM_001367561.1	NP_001354490.1:p.(His731Tyr)	NC_000001.10:g.63027296G>A	VUS	1 lab	5a2d26db0b
2:96628144 ANKRD36C G>A	2	96628144	96628144	G	A	ANKRD36C	c.857C>T	NM_001393982.1	NP_001380911.1:p.(Ser286Leu)	NC_000002.11:g.96628144G>A	VUS	1 lab	5a2efaa2da
X:105278249 SERPINA7 C>G	X	105278249	105278249	C	G	SERPINA7	c.1021G>C	NM_000354.6	NP_000345.2:p.(Asp341His)	NC_000023.10:g.105278249C>G	(Likely) benign	1 lab	5a2f5da53e
6:31936703 SKIC2 G>A	6	31936703	31936703	G	A	SKIC2	c.3236G>A	NM_006929.5	NP_008860.4:p.(Arg1079Gln)	NC_000006.11:g.31936703G>A	VUS	1 lab	5a2fbb6258
12:49442542 KMT2D A>G	12	49442542	49442542	A	G	KMT2D	c.4031T>C	NM_003482.4	NP_003473.3:p.(Ile1344Thr)	NC_000012.11:g.49442542A>G	(Likely) benign	1 lab	5a3006cc80
12:7241450 C1R G>A	12	7241450	7241450	G	A	C1R	c.901C>T	NM_001733.7	NP_001724.4:p.(Arg301Cys)	NC_000012.11:g.7241450G>A	(Likely) benign	1 lab	5a33af0f9c
19:42776485 CIC G>T	19	42776485	42776485	G	T	CIC	c.550G>T	NM_001386298.1	NP_001373227.1:p.(Gly184Cys)	NC_000019.9:g.42776485G>T	VUS	1 lab	5a3442002d
1:12017056 PLOD1 C>T	1	12017056	12017056	C	T	PLOD1	c.726C>T	NM_000302.4	NP_000293.2:p.(Gly242=)	NC_000001.10:g.12017056C>T	VUS	1 lab	5a34c8ff16
21:47552249 COL6A2 C>T	21	47552249	47552249	C	T	COL6A2	c.2843C>T	NM_001849.4	NP_001840.3:p.(Thr948Met)	NC_000021.8:g.47552249C>T	VUS	1 lab	5a37643db3
16:2147463 PKD1 G>A	16	2147463	2147463	G	A	PKD1	c.10262C>T	NM_001009944.3	NP_001009944.3:p.(Pro3421Leu)	NC_000016.9:g.2147463G>A	VUS	1 lab	5a376aaac9
11:64507637 RASGRP2 T>TG	11	64507637	64507644	T	TG	RASGRP2	c.372-3dup	NM_001098671.2	NP_001092141.1:p.?	NC_000011.9:g.64507644dup	(Likely) benign	1 lab	5a39766dd7
19:56379149 NLRP4 C>T	19	56379149	56379149	C	T	NLRP4	c.2261C>T	NM_134444.5	NP_604393.2:p.(Thr754Met)	NC_000019.9:g.56379149C>T	(Likely) benign	1 lab	5a3aa1f33f
16:51175481 SALL1 C>T	16	51175481	51175481	C	T	SALL1	c.652G>A	NM_002968.3	NP_002959.2:p.(Gly218Arg)	NC_000016.9:g.51175481C>T	VUS	1 lab	5a3d0e43d6
1:210522387 HHAT A>G	1	210522387	210522387	A	G	HHAT	c.68A>G	NM_018194.6	NP_060664.2:p.(Tyr23Cys)	NC_000001.10:g.210522387A>G	(Likely) benign	1 lab	5a3d3cb2b3
17:80763891 TBCD C>T	17	80763891	80763891	C	T	TBCD	c.1087+4C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80763891C>T	(Likely) benign	1 lab	5a3dafcc51
3:44881887 KIF15 A>G	3	44881887	44881887	A	G	KIF15	c.3359A>G	NM_020242.3	NP_064627.1:p.(Glu1120Gly)	NC_000003.11:g.44881887A>G	(Likely) benign	1 lab	5a3dd7b57c
2:1652210 PXDN G>C	2	1652210	1652210	G	C	PXDN	c.3342C>G	NM_012293.3	NP_036425.1:p.(Ile1114Met)	NC_000002.11:g.1652210G>C	VUS	1 lab	5a410ca190
8:70744581 SLCO5A1 C>T	8	70744581	70744581	C	T	SLCO5A1	c.328G>A	NM_030958.3	NP_112220.2:p.(Ala110Thr)	NC_000008.10:g.70744581C>T	(Likely) benign	1 lab	5a417c6bef
2:225362526 CUL3 G>A	2	225362526	225362526	G	A	CUL3	c.1651C>T	NM_003590.5	NP_003581.1:p.(Gln551Ter)	NC_000002.11:g.225362526G>A	VUS	1 lab	5a41eb47c9
14:30046511 PRKD1 T>C	14	30046511	30046511	T	C	PRKD1	c.2672A>G	NM_002742.3	NP_002733.2:p.(His891Arg)	NC_000014.8:g.30046511T>C	(Likely) benign	1 lab	5a43e4bfb8
7:48317680 ABCA13 TA>T	7	48317680	48317681	TA	T	ABCA13	c.6900-10del	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48317681del	(Likely) benign	1 lab	5a455eb6ab
1:22182388 HSPG2 C>T	1	22182388	22182388	C	T	HSPG2	c.5593G>A	NM_005529.7	NP_005520.4:p.(Ala1865Thr)	NC_000001.10:g.22182388C>T	VUS	1 lab	5a47785178
X:135428074 ADGRG4 G>T	X	135428074	135428074	G	T	ADGRG4	c.2209G>T	NM_153834.4	NP_722576.3:p.(Ala737Ser)	NC_000023.10:g.135428074G>T	(Likely) benign	1 lab	5a48c89ac2
18:44065065 LOXHD1 G>A	18	44065065	44065065	G	A	LOXHD1	c.6099C>T	NM_001384474.1	NP_001371403.1:p.(Asn2033=)	NC_000018.9:g.44065065G>A	(Likely) benign	1 lab	5a49b05956
6:30691729 TUBB A>C	6	30691729	30691729	A	C	TUBB	c.890A>C	NM_178014.4	NP_821133.1:p.(Lys297Thr)	NC_000006.11:g.30691729A>C	(Likely) benign	1 lab	5a4b49accc
5:140594939 PCDHB13 C>A	5	140594939	140594939	C	A	PCDHB13	c.1244C>A	NM_018933.4	NP_061756.1:p.(Ala415Glu)	NC_000005.9:g.140594939C>A	VUS	1 lab	5a4b91099e
X:135474514 ADGRG4 GT>G	X	135474514	135474515	GT	G	ADGRG4	c.8034+2del	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135474515del	VUS	1 lab	5a4be70873
2:36706750 CRIM1 G>A	2	36706750	36706750	G	A	CRIM1	c.1285G>A	NM_016441.3	NP_057525.1:p.(Gly429Ser)	NC_000002.11:g.36706750G>A	(Likely) benign	1 lab	5a4d66a843
7:142989563 CASP2 A>G	7	142989563	142989563	A	G	CASP2	c.393+3A>G	NM_032982.4	NP_116764.2:p.?	NC_000007.13:g.142989563A>G	(Likely) benign	1 lab	5a4e794eb1
19:7267577 INSR A>T	19	7267577	7267577	A	T	INSR	c.431T>A	NM_000208.4	NP_000199.2:p.(Val144Asp)	NC_000019.9:g.7267577A>T	VUS	1 lab	5a4f2b7f87
1:10292290 KIF1B A>T	1	10292290	10292290	A	T	KIF1B	c.-79-18A>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10292290A>T	(Likely) benign	1 lab	21bb6af0d6
16:2154534 PKD1 G>A	16	2154534	2154534	G	A	PKD1	c.8126C>T	NM_001009944.3	NP_001009944.3:p.(Pro2709Leu)	NC_000016.9:g.2154534G>A	(Likely) pathogenic	1 lab	5a543f4ae4
6:71235011 FAM135A A>G	6	71235011	71235011	A	G	FAM135A	c.2224A>G	NM_001162529.3	NP_001156001.1:p.(Lys742Glu)	NC_000006.11:g.71235011A>G	VUS	1 lab	5a54611f33
15:89402162 ACAN G>A	15	89402162	89402162	G	A	ACAN	c.6346G>A	NM_001369268.1	NP_001356197.1:p.(Ala2116Thr)	NC_000015.9:g.89402162G>A	VUS	1 lab	5a54ed6a7c
4:15601176 CC2D2A A>T	4	15601176	15601176	A	T	CC2D2A	c.4521A>T	NM_001378615.1	NP_001365544.1:p.(Lys1507Asn)	NC_000004.11:g.15601176A>T	VUS	1 lab	5a558f7064
17:66538308 FAM20A TGGAGGATGG>T	17	66538308	66538323	TGGAGGATGG	T	FAM20A	c.929-11_929-3del	NM_017565.4	NP_060035.2:p.?	NC_000017.10:g.66538315_66538323del	(Likely) benign	1 lab	5a56e73d1f
8:106813922 ZFPM2 G>C	8	106813922	106813922	G	C	ZFPM2	c.1612G>C	NM_012082.4	NP_036214.2:p.(Val538Leu)	NC_000008.10:g.106813922G>C	(Likely) benign	1 lab	5a56eae7a0
16:2168732 PKD1 AG>A	16	2168732	2168734	AG	A	PKD1	c.473del	NM_001009944.3	NP_001009944.3:p.(Pro158LeufsTer132)	NC_000016.9:g.2168734del	(Likely) pathogenic	1 lab	5a5829d3db
3:123418911 MYLK C>A	3	123418911	123418911	C	A	MYLK	c.3404G>T	NM_053025.4	NP_444253.3:p.(Gly1135Val)	NC_000003.11:g.123418911C>A	VUS	1 lab	20dab4d5c9
3:184070513 CLCN2 C>T	3	184070513	184070513	C	T	CLCN2	c.2217+12G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070513C>T	(Likely) benign	1 lab	5a5c10bcd5
19:5143980 KDM4B ATGCGTG>A	19	5143980	5143987	ATGCGTG	A	KDM4B	c.2555_2560del	NM_015015.3	NP_055830.1:p.(Cys852_Val853del)	NC_000019.9:g.5143982_5143987del	VUS	1 lab	5a5eb13091
10:89487065 PAPSS2 C>T	10	89487065	89487065	C	T	PAPSS2	c.905C>T	NM_001015880.2	NP_001015880.1:p.(Pro302Leu)	NC_000010.10:g.89487065C>T	VUS	1 lab	5a5f1fa077
12:102153860 GNPTAB G>A	12	102153860	102153860	G	A	GNPTAB	c.3197C>T	NM_024312.5	NP_077288.2:p.(Thr1066Met)	NC_000012.11:g.102153860G>A	(Likely) benign	1 lab	5a5f8a0bcd
15:33945080 RYR3 A>G	15	33945080	33945080	A	G	RYR3	c.4304A>G	NM_001036.6	NP_001027.3:p.(Tyr1435Cys)	NC_000015.9:g.33945080A>G	VUS	1 lab	5a61b8dcb4
20:45839540 ZMYND8 G>GGT	20	45839540	45839542	G	GGT	ZMYND8	c.3569_3570dup	NM_001281775.3	NP_001268704.1:p.(His1191ThrfsTer80)	NC_000020.10:g.45839541_45839542dup	(Likely) benign	1 lab	5a62f7a417
12:70953189 PTPRB C>T	12	70953189	70953189	C	T	PTPRB	c.4648G>A	NM_001109754.4	NP_001103224.1:p.(Val1550Ile)	NC_000012.11:g.70953189C>T	(Likely) benign	1 lab	5a637c24ae
15:99434577 IGF1R C>T	15	99434577	99434577	C	T	IGF1R	c.664C>T	NM_000875.5	NP_000866.1:p.(Arg222Trp)	NC_000015.9:g.99434577C>T	VUS	1 lab	5a63854071
9:126125292 CRB2 G>C	9	126125292	126125292	G	C	CRB2	c.243G>C	NM_173689.7	NP_775960.4:p.(Leu81=)	NC_000009.11:g.126125292G>C	(Likely) benign	1 lab	5a642fc385
5:98221292 CHD1 T>C	5	98221292	98221292	T	C	CHD1	c.2558A>G	NM_001270.4	NP_001261.2:p.(Glu853Gly)	NC_000005.9:g.98221292T>C	VUS	1 lab	5a65dfd937
2:202358482 CATSPERT T>A	2	202358482	202358482	T	A	CATSPERT	c.2582A>T	NM_001168221.2	NP_001161693.1:p.(His861Leu)	NC_000002.11:g.202358482T>A	(Likely) benign	1 lab	5a65fbb650
22:18908875 PRODH A>G	22	18908875	18908875	A	G	PRODH	c.991T>C	NM_016335.6	NP_057419.5:p.(Leu331=)	NC_000022.10:g.18908875A>G	(Likely) benign	1 lab	20dde4d66d
X:107976123 IRS4 G>T	X	107976123	107976123	G	T	IRS4	c.3452C>A	NM_001379150.1	NP_001366079.1:p.(Ala1151Glu)	NC_000023.10:g.107976123G>T	(Likely) benign	1 lab	5a67363213
5:149435914 CSF1R A>G	5	149435914	149435914	A	G	CSF1R	c.2320-10T>C	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149435914A>G	(Likely) benign	1 lab	5a6965ed18
X:19367495 PDHA1 A>C	X	19367495	19367495	A	C	PDHA1	c.117+6A>C	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19367495A>C	(Likely) benign	1 lab	5a6c66adfc
17:11593688 DNAH9 C>T	17	11593688	11593688	C	T	DNAH9	c.4549C>T	NM_001372.4	NP_001363.2:p.(Arg1517Ter)	NC_000017.10:g.11593688C>T	(Likely) pathogenic	1 lab	5a6c8b5263
15:89390495 ACAN C>T	15	89390495	89390495	C	T	ACAN	c.1451C>T	NM_001369268.1	NP_001356197.1:p.(Pro484Leu)	NC_000015.9:g.89390495C>T	VUS	1 lab	5a6eaea112
19:5719788 LONP1 T>C	19	5719788	5719788	T	C	LONP1	c.356A>G	NM_004793.4	NP_004784.2:p.(Asp119Gly)	NC_000019.9:g.5719788T>C	VUS	1 lab	5a6eb3339c
4:186283113 SNX25 A>T	4	186283113	186283113	A	T	SNX25	c.2687A>T	NM_001378034.2	NP_001364963.1:p.(Glu896Val)	NC_000004.11:g.186283113A>T	VUS	1 lab	5a6eeda9f5
X:63579298 MTMR8 C>T	X	63579298	63579298	C	T	MTMR8	c.134G>A	NM_017677.4	NP_060147.2:p.(Arg45Gln)	NC_000023.10:g.63579298C>T	VUS	1 lab	5a6fa96e0a
5:41032858 MROH2B G>A	5	41032858	41032858	G	A	MROH2B	c.2427C>T	NM_173489.5	NP_775760.3:p.(Ala809=)	NC_000005.9:g.41032858G>A	(Likely) benign	1 lab	5a7205ad98
8:22872256 RHOBTB2 G>A	8	22872256	22872256	G	A	RHOBTB2	c.1825G>A	NM_015178.3	NP_055993.2:p.(Asp609Asn)	NC_000008.10:g.22872256G>A	VUS	1 lab	5a72887fbf
19:17308632 MYO9B G>A	19	17308632	17308632	G	A	MYO9B	c.4078G>A	NM_004145.4	NP_004136.2:p.(Val1360Ile)	NC_000019.9:g.17308632G>A	VUS	1 lab	5a73add213
16:72993018 ZFHX3 T>C	16	72993018	72993018	T	C	ZFHX3	c.1027A>G	NM_006885.4	NP_008816.3:p.(Lys343Glu)	NC_000016.9:g.72993018T>C	VUS	1 lab	5a75e810ae
3:134225937 CEP63 GTTC>G	3	134225937	134225945	GTTC	G	CEP63	c.45-8_45-6del	NM_001353108.3	NP_001340037.1:p.?	NC_000003.11:g.134225943_134225945del	(Likely) benign	1 lab	5a77c9c663
17:29325941 RNF135 T>C	17	29325941	29325941	T	C	RNF135	c.1031T>C	NM_032322.4	NP_115698.3:p.(Met344Thr)	NC_000017.10:g.29325941T>C	(Likely) benign	1 lab	5a78a00cb5
X:122829539 THOC2 A>G	X	122829539	122829539	A	G	THOC2	c.601+332T>C	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122829539A>G	(Likely) benign	1 lab	5a78ea98ee
9:80912169 PSAT1 G>C	9	80912169	80912169	G	C	PSAT1	c.43G>C	NM_058179.4	NP_478059.1:p.(Ala15Pro)	NC_000009.11:g.80912169G>C	(Likely) pathogenic	1 lab	5a7969f0ee
19:49633242 PPFIA3 A>T	19	49633242	49633242	A	T	PPFIA3	c.583-8A>T	NM_003660.4	NP_003651.1:p.?	NC_000019.9:g.49633242A>T	(Likely) benign	1 lab	5a7a4c45ae
1:40781261 COL9A2 C>A	1	40781261	40781261	C	A	COL9A2	c.150+1G>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40781261C>A	VUS	1 lab	5a7af62302
4:108829777 SGMS2 G>A	4	108829777	108829777	G	A	SGMS2	c.784G>A	NM_001375905.1	NP_001362834.1:p.(Gly262Arg)	NC_000004.11:g.108829777G>A	VUS	1 lab	5a7bffce14
19:52537655 ZNF432 T>C	19	52537655	52537655	T	C	ZNF432	c.1277A>G	NM_014650.4	NP_055465.1:p.(Glu426Gly)	NC_000019.9:g.52537655T>C	VUS	1 lab	5a7ca37a1b
2:16082656 MYCN C>T	2	16082656	16082656	C	T	MYCN	c.470C>T	NM_005378.6	NP_005369.2:p.(Pro157Leu)	NC_000002.11:g.16082656C>T	(Likely) benign	1 lab	5a7e622b88
2:169828463 ABCB11 G>A	2	169828463	169828463	G	A	ABCB11	c.1532C>T	NM_003742.4	NP_003733.2:p.(Thr511Ile)	NC_000002.11:g.169828463G>A	VUS	1 lab	5a8249cfb5
2:25978986 ASXL2 G>A	2	25978986	25978986	G	A	ASXL2	c.940-3C>T	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25978986G>A	(Likely) benign	1 lab	5a82703a15
X:24197660 ZFX A>G	X	24197660	24197660	A	G	ZFX	c.419A>G	NM_003410.4	NP_003401.2:p.(His140Arg)	NC_000023.10:g.24197660A>G	(Likely) benign	1 lab	5a829b2022
1:154408560 IL6R C>T	1	154408560	154408560	C	T	IL6R	c.923C>T	NM_000565.4	NP_000556.1:p.(Pro308Leu)	NC_000001.10:g.154408560C>T	(Likely) benign	1 lab	21bd516249
15:44955798 SPG11 G>A	15	44955798	44955798	G	A	SPG11	c.48C>T	NM_025137.4	NP_079413.3:p.(Ser16=)	NC_000015.9:g.44955798G>A	(Likely) benign	1 lab	21bdaec93d
17:10549093 MYH3 T>C	17	10549093	10549093	T	C	MYH3	c.1072A>G	NM_002470.4	NP_002461.2:p.(Met358Val)	NC_000017.10:g.10549093T>C	VUS	1 lab	5a859d1c3e
18:55335786 ATP8B1 T>TAAAAAA	18	55335786	55335802	T	TAAAAAA	ATP8B1	c.2098-20_2098-15dup	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55335797_55335802dup	(Likely) benign	1 lab	21be6f4701
11:63676704 MARK2 C>CT	11	63676704	63676707	C	CT	MARK2	c.2365dup	NM_001039469.3	NP_001034558.2:p.(Ter789LeuextTer189)	NC_000011.9:g.63676707dup	VUS	1 lab	5a8c59944e
6:43154017 CUL9 C>G	6	43154017	43154017	C	G	CUL9	c.1075C>G	NM_015089.4	NP_055904.1:p.(Gln359Glu)	NC_000006.11:g.43154017C>G	(Likely) benign	1 lab	5a8c8c0f3a
3:126733366 PLXNA1 A>G	3	126733366	126733366	A	G	PLXNA1	c.2650A>G	NM_032242.4	NP_115618.3:p.(Ile884Val)	NC_000003.11:g.126733366A>G	VUS	1 lab	5a8cd61f10
1:152277403 FLG C>T	1	152277403	152277403	C	T	FLG	c.9959G>A	NM_002016.2	NP_002007.1:p.(Arg3320His)	NC_000001.10:g.152277403C>T	(Likely) benign	1 lab	5a8db2b818
1:155448625 ASH1L A>C	1	155448625	155448625	A	C	ASH1L	c.4036T>G	NM_018489.3	NP_060959.2:p.(Leu1346Val)	NC_000001.10:g.155448625A>C	VUS	1 lab	5a8ed89e60
1:153920969 CRTC2 G>T	1	153920969	153920969	G	T	CRTC2	c.1826C>A	NM_181715.3	NP_859066.1:p.(Ser609Tyr)	NC_000001.10:g.153920969G>T	VUS	1 lab	5a8ede21f6
5:64769781 ADAMTS6 T>C	5	64769781	64769781	T	C	ADAMTS6	c.-279-2A>G	NM_197941.4	NP_922932.2:p.?	NC_000005.9:g.64769781T>C	VUS	1 lab	5a8f1fff1a
1:151407550 POGZ AG>A	1	151407550	151407551	AG	A	POGZ	c.284-4234del	NM_015100.4	NP_055915.2:p.?	NC_000001.10:g.151407551del	(Likely) benign	1 lab	5a90098764
18:43505712 EPG5 C>T	18	43505712	43505712	C	T	EPG5	c.2710G>A	NM_020964.3	NP_066015.2:p.(Ala904Thr)	NC_000018.9:g.43505712C>T	VUS	1 lab	5a94a8acf8
7:21584706 DNAH11 T>A	7	21584706	21584706	T	A	DNAH11	c.434T>A	NM_001277115.2	NP_001264044.1:p.(Val145Glu)	NC_000007.13:g.21584706T>A	VUS	1 lab	5a987561e4
X:50345633 SHROOM4 C>G	X	50345633	50345633	C	G	SHROOM4	c.3942G>C	NM_020717.5	NP_065768.2:p.(Lys1314Asn)	NC_000023.10:g.50345633C>G	VUS	1 lab	5a99dd411d
9:139910196 ABCA2 C>T	9	139910196	139910196	C	T	ABCA2	c.3445G>A	NM_001606.5	NP_001597.2:p.(Glu1149Lys)	NC_000009.11:g.139910196C>T	VUS	1 lab	5a9a9b7fc0
3:49394921 GPX1 G>C	3	49394921	49394921	G	C	GPX1	c.512C>G	NM_000581.4	NP_000572.2:p.(Pro171Arg)	NC_000003.11:g.49394921G>C	VUS	1 lab	5a9aba431f
12:52866070 KRT6C A>G	12	52866070	52866070	A	G	KRT6C	c.541-6T>C	NM_173086.5	NP_775109.2:p.?	NC_000012.11:g.52866070A>G	VUS	1 lab	5a9b184f9a
16:2214160 TRAF7 T>TGG	16	2214160	2214162	T	TGG	TRAF7	c.81+159_81+160insGG	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2214161_2214162insGG	(Likely) benign	1 lab	5a9ba8dca5
20:18491496 SEC23B A>T	20	18491496	18491496	A	T	SEC23B	c.17A>T	NM_006363.6	NP_006354.2:p.(Glu6Val)	NC_000020.10:g.18491496A>T	VUS	1 lab	5aa01f3af1
17:42937876 EFTUD2 T>C	17	42937876	42937876	T	C	EFTUD2	c.1643A>G	NM_004247.4	NP_004238.3:p.(Asn548Ser)	NC_000017.10:g.42937876T>C	VUS	1 lab	5aa0f3cfb1
X:27765386 DCAF8L2 GGGAGGAGGAGGAAGA>G	X	27765386	27765413	GGGAGGAGGAGGAAGA	G	DCAF8L2	c.387_401del	NM_001353450.2	NP_001340379.1:p.(Glu143_Glu147del)	NC_000023.10:g.27765399_27765413del	(Likely) benign	1 lab	5aa1e9dff9
5:156746764 CYFIP2 G>A	5	156746764	156746764	G	A	CYFIP2	c.1357-6G>A	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156746764G>A	(Likely) benign	1 lab	5aa23e6d86
X:153586916 FLNA C>G	X	153586916	153586916	C	G	FLNA	c.4495G>C	NM_001110556.2	NP_001104026.1:p.(Val1499Leu)	NC_000023.10:g.153586916C>G	VUS	1 lab	5aa2556567
16:10031884 GRIN2A G>A	16	10031884	10031884	G	A	GRIN2A	c.939C>T	NM_000833.5	NP_000824.1:p.(Ile313=)	NC_000016.9:g.10031884G>A	(Likely) benign	1 lab	21d2547e25
19:42873882 MEGF8 C>T	19	42873882	42873882	C	T	MEGF8	c.6834+7C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42873882C>T	VUS	1 lab	5aa39508a5
13:39265652 FREM2 C>T	13	39265652	39265652	C	T	FREM2	c.4171C>T	NM_207361.6	NP_997244.4:p.(Arg1391Trp)	NC_000013.10:g.39265652C>T	(Likely) benign	1 lab	5aa4404e7b
2:45169424 SIX3 G>A	2	45169424	45169424	G	A	SIX3	c.181G>A	NM_005413.4	NP_005404.1:p.(Gly61Arg)	NC_000002.11:g.45169424G>A	(Likely) benign	1 lab	5aa47464e5
11:68181424 LRP5 A>T	11	68181424	68181424	A	T	LRP5	c.2771A>T	NM_002335.4	NP_002326.2:p.(His924Leu)	NC_000011.9:g.68181424A>T	VUS	1 lab	5aa532d751
2:228205038 MFF C>T	2	228205038	228205038	C	T	MFF	c.382C>T	NM_001277062.2	NP_001263991.1:p.(Arg128Trp)	NC_000002.11:g.228205038C>T	VUS	1 lab	5aa5f63414
12:32908801 YARS2 G>A	12	32908801	32908801	G	A	YARS2	c.8C>T	NM_001040436.3	NP_001035526.1:p.(Ala3Val)	NC_000012.11:g.32908801G>A	VUS	1 lab	5aa9a16237
21:44480624 CBS C>T	21	44480624	44480624	C	T	CBS	c.1072G>A	NM_000071.3	NP_000062.1:p.(Val358Met)	NC_000021.8:g.44480624C>T	VUS	1 lab	5aabcedc57
20:60885362 LAMA5 G>A	20	60885362	60885362	G	A	LAMA5	c.10606C>T	NM_005560.6	NP_005551.3:p.(Pro3536Ser)	NC_000020.10:g.60885362G>A	(Likely) benign	1 lab	5aad7c6f86
5:176638982 NSD1 C>A	5	176638982	176638982	C	A	NSD1	c.3582C>A	NM_022455.5	NP_071900.2:p.(Asp1194Glu)	NC_000005.9:g.176638982C>A	(Likely) benign	1 lab	5aae3f8ba2
15:49030501 CEP152 G>A	15	49030501	49030501	G	A	CEP152	c.5078C>T	NM_001194998.2	NP_001181927.1:p.(Pro1693Leu)	NC_000015.9:g.49030501G>A	VUS	1 lab	5aafc14df8
4:6303407 WFS1 C>T	4	6303407	6303407	C	T	WFS1	c.1885C>T	NM_006005.3	NP_005996.2:p.(Arg629Trp)	NC_000004.11:g.6303407C>T	(Likely) pathogenic	1 lab	5ab0beaf93
8:21980130 HR G>A	8	21980130	21980130	G	A	HR	c.2006-9C>T	NM_005144.5	NP_005135.2:p.?	NC_000008.10:g.21980130G>A	(Likely) benign	1 lab	5ab22439d9
17:55183487 AKAP1 C>T	17	55183487	55183487	C	T	AKAP1	c.662C>T	NM_003488.4	NP_003479.1:p.(Ser221Phe)	NC_000017.10:g.55183487C>T	(Likely) benign	1 lab	5ab39caaf3
5:146775202 DPYSL3 G>T	5	146775202	146775202	G	T	DPYSL3	c.1886C>A	NM_001197294.2	NP_001184223.1:p.(Pro629His)	NC_000005.9:g.146775202G>T	VUS	1 lab	5ab3fb7e0c
X:153581709 FLNA G>A	X	153581709	153581709	G	A	FLNA	c.5977C>T	NM_001110556.2	NP_001104026.1:p.(Arg1993Trp)	NC_000023.10:g.153581709G>A	VUS	1 lab	5ab8fb70e9
17:79058672 BAIAP2 C>G	17	79058672	79058672	C	G	BAIAP2	c.258C>G	NM_001144888.2	NP_001138360.1:p.(Ile86Met)	NC_000017.10:g.79058672C>G	VUS	1 lab	5ab911125d
7:92764033 SAMD9L T>C	7	92764033	92764033	T	C	SAMD9L	c.1252A>G	NM_152703.5	NP_689916.2:p.(Ile418Val)	NC_000007.13:g.92764033T>C	VUS	1 lab	5aba1cac22
4:114278617 ANK2 C>G	4	114278617	114278617	C	G	ANK2	c.8843C>G	NM_001148.4	NP_001139.3:p.(Ala2948Gly)	NC_000004.11:g.114278617C>G	(Likely) benign	1 lab	21d370349c
9:75406810 TMC1 G>A	9	75406810	75406810	G	A	TMC1	c.1233G>A	NM_138691.3	NP_619636.2:p.(Met411Ile)	NC_000009.11:g.75406810G>A	VUS	1 lab	5abb0dff75
17:62034767 SCN4A C>T	17	62034767	62034767	C	T	SCN4A	c.2131G>A	NM_000334.4	NP_000325.4:p.(Val711Met)	NC_000017.10:g.62034767C>T	VUS	1 lab	5abca7e4b3
13:84454380 SLITRK1 G>T	13	84454380	84454380	G	T	SLITRK1	c.1263C>A	NM_001281503.2	NP_001268432.1:p.(Asn421Lys)	NC_000013.10:g.84454380G>T	VUS	1 lab	5abcbf9c6d
10:21148633 NEBL A>G	10	21148633	21148633	A	G	NEBL	c.798+9T>C	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21148633A>G	(Likely) benign	1 lab	21d5255223
17:61315162 TANC2 CTT>C	17	61315162	61315171	CTT	C	TANC2	c.770-5_770-4del	NM_001394998.1	NP_001381927.1:p.?	NC_000017.10:g.61315170_61315171del	(Likely) benign	1 lab	5abe612dd5
5:112103066 APC T>A	5	112103066	112103066	T	A	APC	c.401T>A	NM_000038.6	NP_000029.2:p.(Leu134Ter)	NC_000005.9:g.112103066T>A	(Likely) pathogenic	1 lab	5ac070934a
16:1268451 CACNA1H C>T	16	1268451	1268451	C	T	CACNA1H	c.5687C>T	NM_021098.3	NP_066921.2:p.(Ala1896Val)	NC_000016.9:g.1268451C>T	(Likely) benign	1 lab	5ac07f0853
12:2786923 CACNA1C A>G	12	2786923	2786923	A	G	CACNA1C	c.4981A>G	NM_000719.7	NP_000710.5:p.(Ile1661Val)	NC_000012.11:g.2786923A>G	VUS	1 lab	5b3decdbe0
3:9985186 CRELD1 G>A	3	9985186	9985186	G	A	CRELD1	c.1035G>A	NM_015513.6	NP_056328.3:p.(Lys345=)	NC_000003.11:g.9985186G>A	(Likely) benign	1 lab	21d70bc377
2:109380929 RANBP2 G>A	2	109380929	109380929	G	A	RANBP2	c.3934G>A	NM_006267.5	NP_006258.3:p.(Val1312Ile)	NC_000002.11:g.109380929G>A	(Likely) benign	1 lab	5ac41145ab
X:152815200 ATP2B3 G>A	X	152815200	152815200	G	A	ATP2B3	c.1581+3G>A	NM_001001344.3	NP_001001344.1:p.?	NC_000023.10:g.152815200G>A	(Likely) benign	1 lab	5ac5785914
X:153006041 ABCD1 G>A	X	153006041	153006041	G	A	ABCD1	c.1648G>A	NM_000033.4	NP_000024.2:p.(Val550Met)	NC_000023.10:g.153006041G>A	VUS	1 lab	5ac6371068
7:154570787 DPP6 C>T	7	154570787	154570787	C	T	DPP6	c.1136+6135C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154570787C>T	(Likely) benign	1 lab	5ac7956996
X:153490595 OPN1MW2 G>A	X	153490595	153490595	G	A	OPN1MW2	c.331G>A	NM_001048181.3	NP_001041646.1:p.(Val111Ile)	NC_000023.10:g.153490595G>A	(Likely) benign	1 lab	5ac7b94f13
X:51150407 EZHIP G>A	X	51150407	51150407	G	A	EZHIP	c.539G>A	NM_203407.3	NP_981952.1:p.(Arg180Gln)	NC_000023.10:g.51150407G>A	(Likely) benign	1 lab	5adf467b45
12:108918146 SART3 C>T	12	108918146	108918146	C	T	SART3	c.2661G>A	NM_014706.4	NP_055521.1:p.(Pro887=)	NC_000012.11:g.108918146C>T	(Likely) benign	1 lab	20e02d73f0
14:104056578 COA8 G>A	14	104056578	104056578	G	A	COA8	c.537G>A	NM_001370595.2	NP_001357524.1:p.(Arg179=)	NC_000014.8:g.104056578G>A	VUS	1 lab	5acd7bc95e
11:64567147 MAP4K2 G>A	11	64567147	64567147	G	A	MAP4K2	c.924C>T	NM_004579.5	NP_004570.2:p.(Asp308=)	NC_000011.9:g.64567147G>A	(Likely) benign	1 lab	5ace5a6a56
2:111395710 BUB1 T>G	2	111395710	111395710	T	G	BUB1	c.3089A>C	NM_004336.5	NP_004327.1:p.(Glu1030Ala)	NC_000002.11:g.111395710T>G	VUS	1 lab	5acecb79c1
1:155257692 HCN3 G>A	1	155257692	155257692	G	A	HCN3	c.1763G>A	NM_020897.3	NP_065948.1:p.(Arg588Gln)	NC_000001.10:g.155257692G>A	(Likely) benign	1 lab	5acffc55ae
5:149357679 SLC26A2 G>A	5	149357679	149357679	G	A	SLC26A2	c.464G>A	NM_000112.4	NP_000103.2:p.(Gly155Asp)	NC_000005.9:g.149357679G>A	VUS	1 lab	5ad1d951a6
X:100169937 XKRX C>T	X	100169937	100169937	C	T	XKRX	c.740G>A	NM_212559.3	NP_997724.2:p.(Arg247Gln)	NC_000023.10:g.100169937C>T	VUS	1 lab	5ad2d333cc
3:42728069 KLHL40 T>C	3	42728069	42728069	T	C	KLHL40	c.959T>C	NM_152393.4	NP_689606.2:p.(Ile320Thr)	NC_000003.11:g.42728069T>C	VUS	1 lab	5ad44b0c36
15:33445999 FMN1 G>C	15	33445999	33445999	G	C	FMN1	c.1117C>G	NM_001277313.2	NP_001264242.1:p.(Leu373Val)	NC_000015.9:g.33445999G>C	(Likely) benign	1 lab	5ad55e2581
6:129573291 LAMA2 T>C	6	129573291	129573291	T	C	LAMA2	c.1947T>C	NM_000426.4	NP_000417.3:p.(His649=)	NC_000006.11:g.129573291T>C	(Likely) benign	1 lab	5ad85156d6
17:4488299 SMTNL2 G>T	17	4488299	4488299	G	T	SMTNL2	c.399G>T	NM_001114974.2	NP_001108446.1:p.(Gln133His)	NC_000017.10:g.4488299G>T	VUS	1 lab	5ad8b11340
2:191862673 STAT1 T>C	2	191862673	191862673	T	C	STAT1	c.694A>G	NM_007315.4	NP_009330.1:p.(Ile232Val)	NC_000002.11:g.191862673T>C	VUS	1 lab	5ad9a41ada
14:36158556 RALGAPA1 C>T	14	36158556	36158556	C	T	RALGAPA1	c.3061G>A	NM_001346249.2	NP_001333178.1:p.(Ala1021Thr)	NC_000014.8:g.36158556C>T	VUS	1 lab	5adb8dfb4c
4:191003179 MISSING A>G	4	191003179	191003179	A	G	MISSING				NC_000004.11:g.191003179A>G	VUS	1 lab	5ade3aa978
19:21910291 ZNF100 G>T	19	21910291	21910291	G	T	ZNF100	c.823C>A	NM_173531.4	NP_775802.2:p.(His275Asn)	NC_000019.9:g.21910291G>T	VUS	1 lab	5adeb9f95e
16:88690383 ZC3H18 C>T	16	88690383	88690383	C	T	ZC3H18	c.1811C>T	NM_144604.4	NP_653205.3:p.(Ser604Leu)	NC_000016.9:g.88690383C>T	VUS	1 lab	5ae0f999ff
17:78325600 RNF213 G>A	17	78325600	78325600	G	A	RNF213	c.10300G>A	NM_001256071.3	NP_001243000.2:p.(Gly3434Arg)	NC_000017.10:g.78325600G>A	VUS	1 lab	5ae35672c2
5:68716161 MARVELD2 C>T	5	68716161	68716161	C	T	MARVELD2	c.949C>T	NM_001038603.3	NP_001033692.2:p.(Arg317Ter)	NC_000005.9:g.68716161C>T	(Likely) pathogenic	1 lab	5ae4185afd
12:88500575 CEP290 C>T	12	88500575	88500575	C	T	CEP290	c.2694G>A	NM_025114.4	NP_079390.3:p.(Arg898=)	NC_000012.11:g.88500575C>T	(Likely) benign	1 lab	5ae447ea69
17:7416516 POLR2A CCAA>C	17	7416516	7416520	CCAA	C	POLR2A	c.4935_4937del	NM_000937.5	NP_000928.1:p.(Thr1646del)	NC_000017.10:g.7416518_7416520del	VUS	1 lab	5aed38e2cc
5:73981137 HEXB C>T	5	73981137	73981137	C	T	HEXB	c.52C>T	NM_000521.3	NP_000512.1:p.(Leu18=)	NC_000005.9:g.73981137C>T	(Likely) benign	1 lab	21d8207c33
15:89414703 ACAN G>A	15	89414703	89414703	G	A	ACAN	c.7151G>A	NM_001369268.1	NP_001356197.1:p.(Arg2384His)	NC_000015.9:g.89414703G>A	(Likely) benign	1 lab	5ae489d19d
9:139749237 MAMDC4 G>A	9	139749237	139749237	G	A	MAMDC4	c.958G>A	NM_206920.3	NP_996803.2:p.(Glu320Lys)	NC_000009.11:g.139749237G>A	VUS	1 lab	5ae5317b68
8:145639244 SLC39A4 C>T	8	145639244	145639244	C	T	SLC39A4	c.1309G>A	NM_130849.4	NP_570901.3:p.(Gly437Ser)	NC_000008.10:g.145639244C>T	(Likely) benign	1 lab	21daf2a956
X:120182779 GLUD2 A>G	X	120182779	120182779	A	G	GLUD2	c.1241A>G	NM_012084.4	NP_036216.2:p.(Asp414Gly)	NC_000023.10:g.120182779A>G	VUS	1 lab	5ae9aa27f3
7:153750102 DPP6 G>C	7	153750102	153750102	G	C	DPP6	c.197G>C	NM_130797.4	NP_570629.2:p.(Arg66Pro)	NC_000007.13:g.153750102G>C	VUS	1 lab	5aea488372
10:79580831 DLG5 C>G	10	79580831	79580831	C	G	DLG5	c.3402+9G>C	NM_004747.4	NP_004738.3:p.?	NC_000010.10:g.79580831C>G	(Likely) benign	1 lab	5aea4e7ba2
12:12870898 CDKN1B C>T	12	12870898	12870898	C	T	CDKN1B	c.125C>T	NM_004064.5	NP_004055.1:p.(Thr42Ile)	NC_000012.11:g.12870898C>T	VUS	1 lab	5aea6f1eb6
12:110246100 TRPV4 C>T	12	110246100	110246100	C	T	TRPV4	c.559+1G>A	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110246100C>T	VUS	1 lab	5aead44fb6
14:58925181 KIAA0586 T>A	14	58925181	58925181	T	A	KIAA0586	c.1584-10T>A	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.58925181T>A	(Likely) benign	1 lab	5aead7e1a9
5:60628245 ZSWIM6 G>C	5	60628245	60628245	G	C	ZSWIM6	c.146G>C	NM_020928.2	NP_065979.1:p.(Gly49Ala)	NC_000005.9:g.60628245G>C	(Likely) benign	1 lab	5aeae7bc1a
4:158041785 GLRB A>C	4	158041785	158041785	A	C	GLRB	c.200A>C	NM_000824.5	NP_000815.1:p.(Tyr67Ser)	NC_000004.11:g.158041785A>C	VUS	1 lab	5aec5c37f3
X:153278533 IRAK1 A>C	X	153278533	153278533	A	C	IRAK1	c.1891T>G	NM_001569.4	NP_001560.2:p.(Trp631Gly)	NC_000023.10:g.153278533A>C	(Likely) benign	1 lab	21dc0aa3f6
13:78477314 EDNRB C>T	13	78477314	78477314	C	T	EDNRB	c.778G>A	NM_001122659.3	NP_001116131.1:p.(Val260Ile)	NC_000013.10:g.78477314C>T	(Likely) benign	1 lab	5aedb5b382
13:23898652 SGCG G>A	13	23898652	23898652	G	A	SGCG	c.848G>A	NM_000231.3	NP_000222.2:p.(Cys283Tyr)	NC_000013.10:g.23898652G>A	(Likely) pathogenic	1 lab	5aef0a55d0
16:1263883 CACNA1H C>G	16	1263883	1263883	C	G	CACNA1H	c.4881C>G	NM_021098.3	NP_066921.2:p.(Ile1627Met)	NC_000016.9:g.1263883C>G	VUS	1 lab	5aef1d2e2d
16:78142308 WWOX G>T	16	78142308	78142308	G	T	WWOX	c.108-12G>T	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78142308G>T	(Likely) benign	1 lab	20e74bf6fe
6:75893583 COL12A1 C>T	6	75893583	75893583	C	T	COL12A1	c.1275G>A	NM_004370.6	NP_004361.3:p.(Met425Ile)	NC_000006.11:g.75893583C>T	(Likely) benign	1 lab	5af187e3fa
3:195611854 TNK2 C>G	3	195611854	195611854	C	G	TNK2	c.285G>C	NM_001382273.1	NP_001369202.1:p.(Gln95His)	NC_000003.11:g.195611854C>G	VUS	1 lab	5af1c8b5ee
4:95377443 PDLIM5 G>T	4	95377443	95377443	G	T	PDLIM5	c.96+908G>T	NM_006457.5	NP_006448.5:p.?	NC_000004.11:g.95377443G>T	(Likely) benign	1 lab	5af34f40d4
14:39554985 SEC23A A>G	14	39554985	39554985	A	G	SEC23A	c.809T>C	NM_006364.4	NP_006355.2:p.(Ile270Thr)	NC_000014.8:g.39554985A>G	VUS	1 lab	5af42b06fe
19:3118982 GNA11 C>T	19	3118982	3118982	C	T	GNA11	c.666C>T	NM_002067.5	NP_002058.2:p.(Asn222=)	NC_000019.9:g.3118982C>T	(Likely) benign	1 lab	5af67cef8a
X:48814588 OTUD5 G>C	X	48814588	48814588	G	C	OTUD5	c.245C>G	NM_001136157.2	NP_001129629.1:p.(Ala82Gly)	NC_000023.10:g.48814588G>C	VUS	1 lab	5af69380b9
1:116206768 VANGL1 C>T	1	116206768	116206768	C	T	VANGL1	c.691C>T	NM_138959.3	NP_620409.1:p.(Leu231Phe)	NC_000001.10:g.116206768C>T	VUS	1 lab	5af7ccc3c5
17:78063563 CCDC40 A>G	17	78063563	78063563	A	G	CCDC40	c.2712A>G	NM_017950.4	NP_060420.2:p.(Glu904=)	NC_000017.10:g.78063563A>G	(Likely) benign	1 lab	5af87e26da
11:103006615 DYNC2H1 A>G	11	103006615	103006615	A	G	DYNC2H1	c.2512A>G	NM_001377.3	NP_001368.2:p.(Thr838Ala)	NC_000011.9:g.103006615A>G	(Likely) benign	1 lab	5af9ec4d10
1:109538397 WDR47 G>A	1	109538397	109538397	G	A	WDR47	c.1496C>T	NM_001142551.2	NP_001136023.1:p.(Ala499Val)	NC_000001.10:g.109538397G>A	(Likely) benign	1 lab	5afa35e204
17:1674375 SERPINF1 G>T	17	1674375	1674375	G	T	SERPINF1	c.336G>T	NM_002615.7	NP_002606.3:p.(Leu112Phe)	NC_000017.10:g.1674375G>T	VUS	1 lab	5afa377625
15:64067037 HERC1 T>C	15	64067037	64067037	T	C	HERC1	c.786A>G	NM_003922.4	NP_003913.3:p.(Arg262=)	NC_000015.9:g.64067037T>C	(Likely) benign	1 lab	5afb3a9763
1:7723761 CAMTA1 C>T	1	7723761	7723761	C	T	CAMTA1	c.1154C>T	NM_015215.4	NP_056030.1:p.(Ala385Val)	NC_000001.10:g.7723761C>T	VUS	1 lab	5afcd4d81e
7:140494126 BRAF T>C	7	140494126	140494126	T	C	BRAF	c.1122A>G	NM_004333.6	NP_004324.2:p.(Ile374Met)	NC_000007.13:g.140494126T>C	VUS	1 lab	5afdc46c5f
X:152612783 ZNF275 T>TGCGG	X	152612783	152612791	T	TGCGG	ZNF275	c.645_648dup	NM_001367757.1	NP_001354686.1:p.(Ser217AlafsTer148)	NC_000023.10:g.152612788_152612791dup	VUS	1 lab	5afe2ac457
7:107204415 DUS4L C>CG	7	107204415	107204416	C	CG	DUS4L	c.-349dup	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204416dup	(Likely) benign	1 lab	5aff021bbc
11:65325325 LTBP3 C>CCAGCAG	11	65325325	65325356	C	CCAGCAG	LTBP3	c.100_105dup	NM_001130144.3	NP_001123616.1:p.(Leu34_Leu35dup)	NC_000011.9:g.65325351_65325356dup	(Likely) benign	1 lab	20ebb67884
4:187004675 TLR3 T>C	4	187004675	187004675	T	C	TLR3	c.1835T>C	NM_003265.3	NP_003256.1:p.(Leu612Pro)	NC_000004.11:g.187004675T>C	VUS	1 lab	5b00a7df08
13:111092194 COL4A2 A>G	13	111092194	111092194	A	G	COL4A2	c.957+14A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111092194A>G	(Likely) benign	1 lab	5b012a5a8f
3:183858393 EIF2B5 G>A	3	183858393	183858393	G	A	EIF2B5	c.1031G>A	NM_003907.3	NP_003898.2:p.(Arg344Gln)	NC_000003.11:g.183858393G>A	VUS	1 lab	5b0171fe83
22:25016960 GGT1 C>T	22	25016960	25016960	C	T	GGT1	c.656C>T	NM_001288833.2	NP_001275762.1:p.(Thr219Met)	NC_000022.10:g.25016960C>T	(Likely) benign	1 lab	5b01d88490
2:60688601 BCL11A G>C	2	60688601	60688601	G	C	BCL11A	c.1446C>G	NM_022893.4	NP_075044.2:p.(Asn482Lys)	NC_000002.11:g.60688601G>C	VUS	1 lab	5b02a8500f
16:9002252 USP7 A>T	16	9002252	9002252	A	T	USP7	c.1217T>A	NM_003470.3	NP_003461.2:p.(Leu406Gln)	NC_000016.9:g.9002252A>T	VUS	1 lab	5b06c55be3
X:34148803 FAM47A ACCGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAG>A	X	34148803	34148843	ACCGAGACTGGACGTCCGACGAGTCTTGGGAGGCTCCGAG	A	FAM47A	c.1554_1592del	NM_203408.4	NP_981953.2:p.(Ser519_Gly531del)	NC_000023.10:g.34148805_34148843del	VUS	1 lab	5b081f53d5
19:1469469 APC2 G>A	19	1469469	1469469	G	A	APC2	c.6169G>A	NM_005883.3	NP_005874.1:p.(Ala2057Thr)	NC_000019.9:g.1469469G>A	(Likely) benign	1 lab	5b09068481
20:60886106 LAMA5 A>C	20	60886106	60886106	A	C	LAMA5	c.10133T>G	NM_005560.6	NP_005551.3:p.(Leu3378Arg)	NC_000020.10:g.60886106A>C	VUS	1 lab	5b09ba79e4
1:53679231 CPT2 G>A	1	53679231	53679231	G	A	CPT2	c.1941G>A	NM_000098.3	NP_000089.1:p.(Met647Ile)	NC_000001.10:g.53679231G>A	VUS	1 lab	5b09e8e12c
9:138670652 KCNT1 G>A	9	138670652	138670652	G	A	KCNT1	c.2713G>A	NM_020822.3	NP_065873.2:p.(Val905Met)	NC_000009.11:g.138670652G>A	VUS	1 lab	5b0ad66c2e
14:105833719 PACS2 G>T	14	105833719	105833719	G	T	PACS2	c.586+7G>T	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105833719G>T	(Likely) benign	1 lab	5b0afe97dc
6:7246982 RREB1 C>CGGCGAGGCA	6	7246982	7246995	C	CGGCGAGGCA	RREB1	c.4304_4312dup	NM_001003699.4	NP_001003699.1:p.(Glu1435_Gly1437dup)	NC_000006.11:g.7246987_7246995dup	VUS	1 lab	5b0c524497
20:49510106 ADNP G>A	20	49510106	49510106	G	A	ADNP	c.1145C>T	NM_001282531.3	NP_001269460.1:p.(Ser382Leu)	NC_000020.10:g.49510106G>A	(Likely) benign	1 lab	5b0d08d522
5:40843445 CARD6 G>A	5	40843445	40843445	G	A	CARD6	c.475G>A	NM_032587.4	NP_115976.2:p.(Ala159Thr)	NC_000005.9:g.40843445G>A	(Likely) benign	1 lab	5b0de60069
17:1782608 RPA1 A>G	17	1782608	1782608	A	G	RPA1	c.859A>G	NM_002945.5	NP_002936.1:p.(Met287Val)	NC_000017.10:g.1782608A>G	VUS	1 lab	5b0ea59ede
1:152285090 FLG C>G	1	152285090	152285090	C	G	FLG	c.2272G>C	NM_002016.2	NP_002007.1:p.(Asp758His)	NC_000001.10:g.152285090C>G	(Likely) benign	1 lab	5b0f4cfce4
5:110820135 CAMK4 C>T	5	110820135	110820135	C	T	CAMK4	c.1393C>T	NM_001744.6	NP_001735.1:p.(Gln465Ter)	NC_000005.9:g.110820135C>T	VUS	1 lab	5b0f68fd99
9:117568192 TNFSF15 C>T	9	117568192	117568192	C	T	TNFSF15	c.101G>A	NM_005118.4	NP_005109.2:p.(Arg34His)	NC_000009.11:g.117568192C>T	(Likely) benign	1 lab	5b103248b6
X:144909459 SLITRK2 G>T	X	144909459	144909459	G	T	SLITRK2	c.*2978G>T	NM_032539.5	NP_115928.1:p.?	NC_000023.10:g.144909459G>T	VUS	1 lab	5b1069f50b
1:2461547 HES5 T>C	1	2461547	2461547	T	C	HES5	c.54+3A>G	NM_001010926.4	NP_001010926.1:p.?	NC_000001.10:g.2461547T>C	(Likely) benign	1 lab	5b106d296b
11:71946182 INPPL1 T>G	11	71946182	71946182	T	G	INPPL1	c.2438T>G	NM_001567.4	NP_001558.3:p.(Ile813Ser)	NC_000011.9:g.71946182T>G	(Likely) benign	1 lab	5b119150b6
X:101970662 GPRASP2 A>G	X	101970662	101970662	A	G	GPRASP2	c.865A>G	NM_001004051.4	NP_001004051.1:p.(Ser289Gly)	NC_000023.10:g.101970662A>G	(Likely) benign	1 lab	5b12eb0fad
9:104307067 RNF20 A>C	9	104307067	104307067	A	C	RNF20	c.647A>C	NM_019592.7	NP_062538.5:p.(Glu216Ala)	NC_000009.11:g.104307067A>C	VUS	1 lab	5b153396a7
4:123193525 BLTP1 T>C	4	123193525	123193525	T	C	BLTP1	c.8411T>C	NM_001384125.1	NP_001371054.1:p.(Ile2804Thr)	NC_000004.11:g.123193525T>C	VUS	1 lab	5b15ddfcfc
17:70119842 SOX9 G>T	17	70119842	70119842	G	T	SOX9	c.844G>T	NM_000346.4	NP_000337.1:p.(Val282Phe)	NC_000017.10:g.70119842G>T	VUS	1 lab	5b1675e856
14:102227065 PPP2R5C TGAGGGGAGGGGCTGGTC>T	14	102227065	102227114	TGAGGGGAGGGGCTGGTC	T	PPP2R5C	c.42+35_42+51del	NM_001352914.2	NP_001339843.1:p.?	NC_000014.8:g.102227098_102227114del	(Likely) benign	1 lab	20ec30197c
19:7615532 PNPLA6 C>G	19	7615532	7615532	C	G	PNPLA6	c.2070+6C>G	NM_001166114.2	NP_001159586.1:p.?	NC_000019.9:g.7615532C>G	(Likely) benign	1 lab	5b18a79313
4:169374384 DDX60L A>G	4	169374384	169374384	A	G	DDX60L	c.887T>C	NM_001012967.3	NP_001012985.2:p.(Leu296Pro)	NC_000004.11:g.169374384A>G	VUS	1 lab	5b18d3a740
X:138669949 MCF2 T>G	X	138669949	138669949	T	G	MCF2	c.2678-2A>C	NM_001171876.2	NP_001165347.1:p.?	NC_000023.10:g.138669949T>G	VUS	1 lab	5b19803512
11:68131274 LRP5 C>T	11	68131274	68131274	C	T	LRP5	c.746C>T	NM_002335.4	NP_002326.2:p.(Thr249Ile)	NC_000011.9:g.68131274C>T	VUS	1 lab	5b19ce33af
6:43005635 CUL7 C>T	6	43005635	43005635	C	T	CUL7	c.4888G>A	NM_014780.5	NP_055595.2:p.(Gly1630Ser)	NC_000006.11:g.43005635C>T	(Likely) benign	1 lab	5b1a4228fd
17:48703727 CACNA1G A>C	17	48703727	48703727	A	C	CACNA1G	c.6749A>C	NM_018896.5	NP_061496.2:p.(Glu2250Ala)	NC_000017.10:g.48703727A>C	VUS	1 lab	5b1abecdaf
9:135947040 CEL G>A	9	135947040	135947040	G	A	CEL	c.2151G>A	NM_001807.6	NP_001798.3:p.(Thr717=)	NC_000009.11:g.135947040G>A	(Likely) benign	1 lab	5b1b30f969
18:19119974 ESCO1 GAT>G	18	19119974	19119993	GAT	G	ESCO1	c.1954-6_1954-5del	NM_052911.3	NP_443143.2:p.?	NC_000018.9:g.19119992_19119993del	VUS	1 lab	5b1bb161ff
21:47704855 MCM3AP T>C	21	47704855	47704855	T	C	MCM3AP	c.346A>G	NM_003906.5	NP_003897.2:p.(Thr116Ala)	NC_000021.8:g.47704855T>C	(Likely) benign	1 lab	5b1bd30c7a
16:1391435 BAIAP3 G>C	16	1391435	1391435	G	C	BAIAP3	c.676G>C	NM_001199097.2	NP_001186026.1:p.(Val226Leu)	NC_000016.9:g.1391435G>C	VUS	1 lab	5b1cb5eb07
16:19056764 TMC7 A>T	16	19056764	19056764	A	T	TMC7	c.1553+4A>T	NM_024847.4	NP_079123.3:p.?	NC_000016.9:g.19056764A>T	(Likely) benign	1 lab	5b1de428ed
12:56495016 ERBB3 C>T	12	56495016	56495016	C	T	ERBB3	c.3373C>T	NM_001982.4	NP_001973.2:p.(Arg1125Trp)	NC_000012.11:g.56495016C>T	VUS	1 lab	5b1e2356f1
2:166224005 SCN2A C>T	2	166224005	166224005	C	T	SCN2A	c.3675+124C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166224005C>T	(Likely) benign	1 lab	21dcc14de7
1:245318776 KIF26B G>T	1	245318776	245318776	G	T	KIF26B	c.50G>T	NM_018012.4	NP_060482.2:p.(Gly17Val)	NC_000001.10:g.245318776G>T	VUS	1 lab	5b1f7fe966
1:22202132 HSPG2 C>T	1	22202132	22202132	C	T	HSPG2	c.3292G>A	NM_005529.7	NP_005520.4:p.(Ala1098Thr)	NC_000001.10:g.22202132C>T	(Likely) benign	1 lab	5b2061f489
2:179428987 TTN T>C	2	179428987	179428987	T	C	TTN	c.81872A>G	NM_001267550.2	NP_001254479.2:p.(Glu27291Gly)	NC_000002.11:g.179428987T>C	VUS	1 lab	5b20c37f79
X:53602756 HUWE1 A>G	X	53602756	53602756	A	G	HUWE1	c.5885-8T>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53602756A>G	(Likely) benign	1 lab	5b2259f76a
15:59974718 BNIP2 G>C	15	59974718	59974718	G	C	BNIP2	c.-57-5C>G	NM_004330.4	NP_004321.3:p.?	NC_000015.9:g.59974718G>C	VUS	1 lab	5b24b0c649
1:206756631 RASSF5 C>T	1	206756631	206756631	C	T	RASSF5	c.610C>T	NM_182663.4	NP_872604.1:p.(Arg204Cys)	NC_000001.10:g.206756631C>T	(Likely) benign	1 lab	5b255242e9
4:151837682 LRBA A>G	4	151837682	151837682	A	G	LRBA	c.768-3T>C	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151837682A>G	(Likely) benign	1 lab	5b26c99eba
1:1277442 DVL1 G>A	1	1277442	1277442	G	A	DVL1	c.457C>T	NM_001330311.2	NP_001317240.1:p.(Arg153Cys)	NC_000001.10:g.1277442G>A	(Likely) benign	1 lab	5b26de16d4
1:39896365 MACF1 C>G	1	39896365	39896365	C	G	MACF1	c.17131-9C>G	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39896365C>G	(Likely) benign	1 lab	5b2a6588a9
17:7811009 CHD3 T>C	17	7811009	7811009	T	C	CHD3	c.5015T>C	NM_001005273.3	NP_001005273.1:p.(Leu1672Ser)	NC_000017.10:g.7811009T>C	(Likely) benign	1 lab	5b2ade6cc3
15:51783863 DMXL2 C>G	15	51783863	51783863	C	G	DMXL2	c.4865G>C	NM_001378457.1	NP_001365386.1:p.(Arg1622Thr)	NC_000015.9:g.51783863C>G	VUS	1 lab	5b2bf549af
7:44190620 GCK T>C	7	44190620	44190620	T	C	GCK	c.418A>G	NM_000162.5	NP_000153.1:p.(Lys140Glu)	NC_000007.13:g.44190620T>C	(Likely) pathogenic	1 lab	5b2e37d308
X:10437285 MID1 TA>T	X	10437285	10437286	TA	T	MID1	c.1285+451del	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10437286del	(Likely) benign	1 lab	5b3074ab80
16:23641589 PALB2 G>A	16	23641589	23641589	G	A	PALB2	c.1886C>T	NM_024675.4	NP_078951.2:p.(Ser629Phe)	NC_000016.9:g.23641589G>A	VUS	1 lab	5b30a578bc
8:117878896 RAD21 T>C	8	117878896	117878896	T	C	RAD21	c.73A>G	NM_006265.3	NP_006256.1:p.(Lys25Glu)	NC_000008.10:g.117878896T>C	VUS	1 lab	5b30ebab22
15:99478058 IGF1R G>A	15	99478058	99478058	G	A	IGF1R	c.2962G>A	NM_000875.5	NP_000866.1:p.(Val988Ile)	NC_000015.9:g.99478058G>A	VUS	1 lab	5b313fe11f
16:2812467 SRRM2 G>C	16	2812467	2812467	G	C	SRRM2	c.1938G>C	NM_016333.4	NP_057417.3:p.(Arg646Ser)	NC_000016.9:g.2812467G>C	VUS	1 lab	5b31589851
5:127800434 FBN2 C>A	5	127800434	127800434	C	A	FBN2	c.809G>T	NM_001999.4	NP_001990.2:p.(Arg270Leu)	NC_000005.9:g.127800434C>A	VUS	1 lab	5b3481cf44
19:54652385 CNOT3 C>T	19	54652385	54652385	C	T	CNOT3	c.1313C>T	NM_014516.4	NP_055331.1:p.(Ala438Val)	NC_000019.9:g.54652385C>T	(Likely) benign	1 lab	5b3511099d
1:150991126 PRUNE1 G>A	1	150991126	150991126	G	A	PRUNE1	c.316G>A	NM_021222.3	NP_067045.1:p.(Asp106Asn)	NC_000001.10:g.150991126G>A	(Likely) pathogenic	1 lab	5b35742296
11:68174247 LRP5 A>G	11	68174247	68174247	A	G	LRP5	c.2057A>G	NM_002335.4	NP_002326.2:p.(Asn686Ser)	NC_000011.9:g.68174247A>G	VUS	1 lab	5b363157ea
16:23767736 CHP2 G>C	16	23767736	23767736	G	C	CHP2	c.380G>C	NM_022097.4	NP_071380.1:p.(Arg127Pro)	NC_000016.9:g.23767736G>C	(Likely) benign	1 lab	5b36394f57
2:27684697 IFT172 C>T	2	27684697	27684697	C	T	IFT172	c.2122G>A	NM_015662.3	NP_056477.1:p.(Val708Met)	NC_000002.11:g.27684697C>T	VUS	1 lab	5b3646f0f9
3:23960913 RPL15 A>G	3	23960913	23960913	A	G	RPL15	c.536A>G	NM_002948.5	NP_002939.2:p.(Lys179Arg)	NC_000003.11:g.23960913A>G	(Likely) benign	1 lab	5b365a55c1
5:145533376 LARS1 T>C	5	145533376	145533376	T	C	LARS1	c.1154-3A>G	NM_020117.11	NP_064502.9:p.?	NC_000005.9:g.145533376T>C	(Likely) benign	1 lab	5b36fc24d4
11:130298120 ADAMTS8 A>AGCG	11	130298120	130298123	A	AGCG	ADAMTS8	c.61_62insCGC	NM_007037.6	NP_008968.4:p.(Leu20_Leu21insPro)	NC_000011.9:g.130298122_130298123insGGC	VUS	1 lab	5b376ccac3
14:20849189 TEP1 G>C	14	20849189	20849189	G	C	TEP1	c.4663C>G	NM_007110.5	NP_009041.2:p.(Arg1555Gly)	NC_000014.8:g.20849189G>C	(Likely) benign	1 lab	5b377e8f62
10:117027885 ATRNL1 C>G	10	117027885	117027885	C	G	ATRNL1	c.2064C>G	NM_207303.4	NP_997186.1:p.(Asp688Glu)	NC_000010.10:g.117027885C>G	(Likely) benign	1 lab	5b38b1a65b
22:18923533 PRODH C>A	22	18923533	18923533	C	A	PRODH	c.268G>T	NM_016335.6	NP_057419.5:p.(Glu90Ter)	NC_000022.10:g.18923533C>A	VUS	1 lab	5b3910f6df
2:238287419 COL6A3 A>G	2	238287419	238287419	A	G	COL6A3	c.2357T>C	NM_004369.4	NP_004360.2:p.(Leu786Pro)	NC_000002.11:g.238287419A>G	(Likely) benign	1 lab	5b39e3a87b
1:2450033 PANK4 C>T	1	2450033	2450033	C	T	PANK4	c.1039G>A	NM_018216.4	NP_060686.3:p.(Glu347Lys)	NC_000001.10:g.2450033C>T	VUS	1 lab	5b3b17ef97
10:114925651 TCF7L2 A>G	10	114925651	114925651	A	G	TCF7L2	c.1780A>G	NM_001367943.1	NP_001354872.1:p.(Thr594Ala)	NC_000010.10:g.114925651A>G	VUS	1 lab	5b3c3612f7
10:134682781 CFAP46 G>A	10	134682781	134682781	G	A	CFAP46	c.4607C>T	NM_001200049.3	NP_001186978.2:p.(Ala1536Val)	NC_000010.10:g.134682781G>A	(Likely) benign	1 lab	5b3ccafb86
1:201175331 IGFN1 A>G	1	201175331	201175331	A	G	IGFN1	c.1310A>G	NM_001164586.2	NP_001158058.1:p.(Glu437Gly)	NC_000001.10:g.201175331A>G	VUS	1 lab	5b3ebb7214
22:32206565 DEPDC5 C>T	22	32206565	32206565	C	T	DEPDC5	c.1383C>T	NM_001242896.3	NP_001229825.1:p.(Ala461=)	NC_000022.10:g.32206565C>T	(Likely) benign	1 lab	21e5c70f85
2:47656933 MSH2 C>T	2	47656933	47656933	C	T	MSH2	c.1129C>T	NM_000251.3	NP_000242.1:p.(Gln377Ter)	NC_000002.11:g.47656933C>T	(Likely) pathogenic	1 lab	5b3f0e9ace
7:65551577 ASL G>A	7	65551577	65551577	G	A	ASL	c.452G>A	NM_000048.4	NP_000039.2:p.(Arg151His)	NC_000007.13:g.65551577G>A	VUS	1 lab	5b3f1c6faf
19:15281000 NOTCH3 A>C	19	15281000	15281000	A	C	NOTCH3	c.5115-19T>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15281000A>C	(Likely) benign	1 lab	5b3fc94e75
3:121980436 CASR G>T	3	121980436	121980436	G	T	CASR	c.554G>T	NM_000388.4	NP_000379.3:p.(Arg185Leu)	NC_000003.11:g.121980436G>T	(Likely) pathogenic	1 lab	5b4786331b
2:170044768 LRP2 G>A	2	170044768	170044768	G	A	LRP2	c.9040C>T	NM_004525.3	NP_004516.2:p.(Arg3014Trp)	NC_000002.11:g.170044768G>A	VUS	1 lab	5b4a25b8f7
X:129546514 RBMX2 G>A	X	129546514	129546514	G	A	RBMX2	c.661G>A	NM_016024.4	NP_057108.2:p.(Gly221Arg)	NC_000023.10:g.129546514G>A	VUS	1 lab	5b4bcc5deb
18:77477859 CTDP1 G>T	18	77477859	77477859	G	T	CTDP1	c.2260G>T	NM_004715.5	NP_004706.3:p.(Ala754Ser)	NC_000018.9:g.77477859G>T	VUS	1 lab	5b4d23428c
X:103294880 H2BW2 A>C	X	103294880	103294880	A	C	H2BW2	c.319A>C	NM_001388464.1	NP_001375393.1:p.(Thr107Pro)	NC_000023.10:g.103294880A>C	(Likely) benign	1 lab	5b4f4b8a93
17:59821889 BRIP1 TCAC>T	17	59821889	59821894	TCAC	T	BRIP1	c.2158_2160del	NM_032043.3	NP_114432.2:p.(Val720del)	NC_000017.10:g.59821892_59821894del	VUS	1 lab	5b4fb543f4
3:58139149 FLNB C>T	3	58139149	58139149	C	T	FLNB	c.6415C>T	NM_001457.4	NP_001448.2:p.(Arg2139Cys)	NC_000003.11:g.58139149C>T	(Likely) benign	1 lab	5b50170d4c
3:123452572 MYLK T>A	3	123452572	123452572	T	A	MYLK	c.1271A>T	NM_053025.4	NP_444253.3:p.(Glu424Val)	NC_000003.11:g.123452572T>A	VUS	1 lab	5b53a68225
1:40228259 BMP8B G>GC	1	40228259	40228260	G	GC	BMP8B	c.1059+504_1059+505insG	NM_001720.5	NP_001711.2:p.?	NC_000001.10:g.40228259_40228260insC	VUS	1 lab	5b544c5862
17:7751858 KDM6B TCACCACCACCACCAC>T	17	7751858	7751891	TCACCACCACCACCAC	T	KDM6B	c.2271_2285del	NM_001348716.2	NP_001335645.1:p.(Thr758_Thr762del)	NC_000017.10:g.7751877_7751891del	VUS	1 lab	5b557b85d1
6:159183129 SYTL3 A>G	6	159183129	159183129	A	G	SYTL3	c.1436A>G	NM_001242394.2	NP_001229323.1:p.(His479Arg)	NC_000006.11:g.159183129A>G	(Likely) benign	1 lab	5b567bb883
16:633634 PIGQ A>G	16	633634	633634	A	G	PIGQ	c.*599A>G	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.633634A>G	VUS	1 lab	5b5759078c
7:70254903 AUTS2 C>T	7	70254903	70254903	C	T	AUTS2	c.2701C>T	NM_015570.4	NP_056385.1:p.(Arg901Cys)	NC_000007.13:g.70254903C>T	VUS	1 lab	20fc7b2248
6:159414935 RSPH3 C>T	6	159414935	159414935	C	T	RSPH3	c.140G>A	NM_031924.8	NP_114130.4:p.(Gly47Glu)	NC_000006.11:g.159414935C>T	VUS	1 lab	5b5a0772ee
18:42533252 SETBP1 C>A	18	42533252	42533252	C	A	SETBP1	c.3947C>A	NM_015559.3	NP_056374.2:p.(Ala1316Asp)	NC_000018.9:g.42533252C>A	(Likely) benign	1 lab	5b5b03d22e
2:114035955 PAX8 A>T	2	114035955	114035955	A	T	PAX8	c.17T>A	NM_003466.4	NP_003457.1:p.(Ile6Asn)	NC_000002.11:g.114035955A>T	VUS	1 lab	5b5b881804
1:155880669 RIT1 C>T	1	155880669	155880669	C	T	RIT1	c.-43-74G>A	NM_006912.6	NP_008843.1:p.?	NC_000001.10:g.155880669C>T	VUS	1 lab	5b5cd3db26
13:42442519 VWA8 A>G	13	42442519	42442519	A	G	VWA8	c.1175T>C	NM_015058.2	NP_055873.1:p.(Val392Ala)	NC_000013.10:g.42442519A>G	(Likely) benign	1 lab	5b5d98b413
3:183963021 ALG3 C>A	3	183963021	183963021	C	A	ALG3	c.570G>T	NM_005787.6	NP_005778.1:p.(Leu190=)	NC_000003.11:g.183963021C>A	VUS	1 lab	5b5fbdb7e0
X:76909626 ATRX G>A	X	76909626	76909626	G	A	ATRX	c.4279C>T	NM_000489.6	NP_000480.3:p.(Arg1427Cys)	NC_000023.10:g.76909626G>A	VUS	1 lab	5b60390158
18:72997849 TSHZ1 T>C	18	72997849	72997849	T	C	TSHZ1	c.487T>C	NM_001308210.2	NP_001295139.1:p.(Cys163Arg)	NC_000018.9:g.72997849T>C	(Likely) benign	1 lab	5b6243cc5a
1:152284046 FLG A>G	1	152284046	152284046	A	G	FLG	c.3316T>C	NM_002016.2	NP_002007.1:p.(Trp1106Arg)	NC_000001.10:g.152284046A>G	(Likely) benign	1 lab	5b74a1e5b5
19:36228808 KMT2B TAAGAA>T	19	36228808	36228813	TAAGAA	T	KMT2B	c.7708_7712del	NM_014727.3	NP_055542.1:p.(Lys2570AspfsTer21)	NC_000019.9:g.36228809_36228813del	(Likely) pathogenic	1 lab	5b63228f8f
2:238462325 MLPH T>C	2	238462325	238462325	T	C	MLPH	c.*90T>C	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238462325T>C	(Likely) benign	1 lab	5b63a8cc74
17:57737944 CLTC C>T	17	57737944	57737944	C	T	CLTC	c.1162C>T	NM_004859.4	NP_004850.1:p.(Pro388Ser)	NC_000017.10:g.57737944C>T	VUS	1 lab	5b63c27026
7:15430498 AGMO CATA>C	7	15430498	15430503	CATA	C	AGMO	c.706_708del	NM_001004320.2	NP_001004320.1:p.(Tyr236del)	NC_000007.13:g.15430501_15430503del	(Likely) benign	1 lab	5b65fb58b7
14:64891662 MTHFD1 A>C	14	64891662	64891662	A	C	MTHFD1	c.855+13A>C	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64891662A>C	(Likely) benign	1 lab	21eed93b88
2:240056291 HDAC4 G>T	2	240056291	240056291	G	T	HDAC4	c.1027C>A	NM_001378414.1	NP_001365343.1:p.(Leu343Ile)	NC_000002.11:g.240056291G>T	VUS	1 lab	5b67389fb5
18:52946783 TCF4 T>C	18	52946783	52946783	T	C	TCF4	c.654A>G	NM_001083962.2	NP_001077431.1:p.(Gln218=)	NC_000018.9:g.52946783T>C	(Likely) pathogenic	1 lab	5b678d5392
11:118376283 KMT2A A>G	11	118376283	118376283	A	G	KMT2A	c.9676A>G	NM_001197104.2	NP_001184033.1:p.(Ile3226Val)	NC_000011.9:g.118376283A>G	(Likely) benign	1 lab	5b67b4d14c
3:49168949 LAMB2 C>A	3	49168949	49168949	C	A	LAMB2	c.648+19G>T	NM_002292.4	NP_002283.3:p.?	NC_000003.11:g.49168949C>A	(Likely) benign	1 lab	21f6f2815e
2:86272754 POLR1A C>T	2	86272754	86272754	C	T	POLR1A	c.2872G>A	NM_015425.6	NP_056240.2:p.(Gly958Ser)	NC_000002.11:g.86272754C>T	VUS	1 lab	5b6bffeb6f
10:32324926 KIF5B T>C	10	32324926	32324926	T	C	KIF5B	c.712-4A>G	NM_004521.3	NP_004512.1:p.?	NC_000010.10:g.32324926T>C	(Likely) benign	1 lab	5b6f96d62d
11:113934249 ZBTB16 C>T	11	113934249	113934249	C	T	ZBTB16	c.227C>T	NM_006006.6	NP_005997.2:p.(Ser76Leu)	NC_000011.9:g.113934249C>T	VUS	1 lab	5b6fe67db9
X:37850385 H2AP C>T	X	37850385	37850385	C	T	H2AP	c.293C>T	NM_012274.2	NP_036406.1:p.(Ala98Val)	NC_000023.10:g.37850385C>T	(Likely) benign	1 lab	5b702da49b
2:27688336 IFT172 T>C	2	27688336	27688336	T	C	IFT172	c.1879A>G	NM_015662.3	NP_056477.1:p.(Met627Val)	NC_000002.11:g.27688336T>C	VUS	1 lab	5b72860453
5:102894726 NUDT12 G>A	5	102894726	102894726	G	A	NUDT12	c.650C>T	NM_031438.4	NP_113626.1:p.(Pro217Leu)	NC_000005.9:g.102894726G>A	VUS	1 lab	5b7324a6cb
10:64967603 JMJD1C A>G	10	64967603	64967603	A	G	JMJD1C	c.3826T>C	NM_032776.3	NP_116165.1:p.(Trp1276Arg)	NC_000010.10:g.64967603A>G	VUS	1 lab	5b7394a90f
16:7721555 RBFOX1 A>G	16	7721555	7721555	A	G	RBFOX1	c.931-5221A>G	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.7721555A>G	(Likely) benign	1 lab	5b76293652
17:59483205 TBX2 C>T	17	59483205	59483205	C	T	TBX2	c.1686+8C>T	NM_005994.4	NP_005985.3:p.?	NC_000017.10:g.59483205C>T	(Likely) benign	1 lab	5b763b56a9
22:19752644 TBX1 C>T	22	19752644	19752644	C	T	TBX1	c.867+8C>T	NM_001379200.1	NP_001366129.1:p.?	NC_000022.10:g.19752644C>T	VUS	1 lab	5b76938a7a
19:11348720 DOCK6 C>T	19	11348720	11348720	C	T	DOCK6	c.1832+1G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11348720C>T	(Likely) pathogenic	1 lab	5b7760da2c
5:150947512 FAT2 A>T	5	150947512	150947512	A	T	FAT2	c.981T>A	NM_001447.3	NP_001438.1:p.(His327Gln)	NC_000005.9:g.150947512A>T	(Likely) benign	1 lab	5b7a0194c4
16:23635384 PALB2 T>G	16	23635384	23635384	T	G	PALB2	c.2780A>C	NM_024675.4	NP_078951.2:p.(Asp927Ala)	NC_000016.9:g.23635384T>G	VUS	1 lab	5b7a18ed1f
15:64017608 HERC1 G>A	15	64017608	64017608	G	A	HERC1	c.3451C>T	NM_003922.4	NP_003913.3:p.(Arg1151Trp)	NC_000015.9:g.64017608G>A	VUS	1 lab	5b7ba4c059
8:68204238 ARFGEF1 C>G	8	68204238	68204238	C	G	ARFGEF1	c.760G>C	NM_006421.5	NP_006412.2:p.(Val254Leu)	NC_000008.10:g.68204238C>G	(Likely) benign	1 lab	5b7d3e896f
17:39411872 KRTAP9-9 A>C	17	39411872	39411872	A	C	KRTAP9-9	c.235A>C	NM_030975.2	NP_112237.2:p.(Thr79Pro)	NC_000017.10:g.39411872A>C	VUS	1 lab	5b805e4728
8:118830720 EXT1 C>G	8	118830720	118830720	C	G	EXT1	c.1586G>C	NM_000127.3	NP_000118.2:p.(Trp529Ser)	NC_000008.10:g.118830720C>G	(Likely) pathogenic	1 lab	5b81fb89cd
4:79207645 FRAS1 G>T	4	79207645	79207645	G	T	FRAS1	c.1486G>T	NM_025074.7	NP_079350.5:p.(Val496Leu)	NC_000004.11:g.79207645G>T	VUS	1 lab	5b850d6628
9:136412345 ADAMTSL2 C>T	9	136412345	136412345	C	T	ADAMTSL2	c.939+10C>T	NM_014694.4	NP_055509.2:p.?	NC_000009.11:g.136412345C>T	(Likely) benign	1 lab	5b85bebef3
2:109383265 RANBP2 G>A	2	109383265	109383265	G	A	RANBP2	c.6270G>A	NM_006267.5	NP_006258.3:p.(Thr2090=)	NC_000002.11:g.109383265G>A	(Likely) benign	1 lab	5b8644d63c
22:19754359 TBX1 C>A	22	19754359	19754359	C	A	TBX1	c.1484C>A	NM_001379200.1	NP_001366129.1:p.(Pro495Gln)	NC_000022.10:g.19754359C>A	VUS	1 lab	5b8686bf5c
12:79552489 SYT1 G>T	12	79552489	79552489	G	T	SYT1	c.-17-58794G>T	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79552489G>T	(Likely) benign	1 lab	5b86f80f08
21:46896269 COL18A1 C>A	21	46896269	46896269	C	A	COL18A1	c.803C>A	NM_001379500.1	NP_001366429.1:p.(Ala268Glu)	NC_000021.8:g.46896269C>A	(Likely) benign	1 lab	5b8732a4bb
18:6975020 LAMA1 C>T	18	6975020	6975020	C	T	LAMA1	c.6505G>A	NM_005559.4	NP_005550.2:p.(Val2169Met)	NC_000018.9:g.6975020C>T	VUS	1 lab	5ba144205f
11:65838229 PACS1 G>C	11	65838229	65838229	G	C	PACS1	c.272G>C	NM_018026.4	NP_060496.2:p.(Gly91Ala)	NC_000011.9:g.65838229G>C	(Likely) benign	1 lab	5b87a1f7b2
16:2522461 NTN3 GCGCTGCAA>G	16	2522461	2522469	GCGCTGCAA	G	NTN3	c.760_767del	NM_006181.3	NP_006172.1:p.(Arg254ValfsTer28)	NC_000016.9:g.2522462_2522469del	VUS	1 lab	5b88831aca
10:72644892 PCBD1 C>T	10	72644892	72644892	C	T	PCBD1	c.216+17G>A	NM_000281.4	NP_000272.1:p.?	NC_000010.10:g.72644892C>T	(Likely) benign	1 lab	5b8e578657
13:77754443 MYCBP2 T>C	13	77754443	77754443	T	C	MYCBP2	c.4952A>G	NM_015057.5	NP_055872.4:p.(Asn1651Ser)	NC_000013.10:g.77754443T>C	VUS	1 lab	5b9026def8
12:122260467 SETD1B C>T	12	122260467	122260467	C	T	SETD1B	c.3982C>T	NM_001353345.2	NP_001340274.1:p.(Pro1328Ser)	NC_000012.11:g.122260467C>T	VUS	1 lab	5b911a8584
9:131343252 SPTAN1 C>T	9	131343252	131343252	C	T	SPTAN1	c.1375C>T	NM_001130438.2	NP_001123910.1:p.(Arg459Cys)	NC_000009.11:g.131343252C>T	(Likely) benign	1 lab	21f9a777a9
14:75277005 YLPM1 G>A	14	75277005	75277005	G	A	YLPM1	c.5110G>A	NM_019589.3	NP_062535.2:p.(Ala1704Thr)	NC_000014.8:g.75277005G>A	(Likely) benign	1 lab	5b92fe39dc
1:12921382 PRAMEF2 T>G	1	12921382	12921382	T	G	PRAMEF2	c.1173T>G	NM_023014.1	NP_075390.1:p.(Ile391Met)	NC_000001.10:g.12921382T>G	(Likely) benign	1 lab	5b9343b24b
7:107224347 BCAP29 T>A	7	107224347	107224347	T	A	BCAP29	c.113T>A	NM_018844.4	NP_061332.2:p.(Phe38Tyr)	NC_000007.13:g.107224347T>A	(Likely) benign	1 lab	5b93cfe898
X:117577561 WDR44 A>G	X	117577561	117577561	A	G	WDR44	c.2423A>G	NM_019045.5	NP_061918.3:p.(Lys808Arg)	NC_000023.10:g.117577561A>G	(Likely) benign	1 lab	5b93daba97
5:38493722 LIFR G>C	5	38493722	38493722	G	C	LIFR	c.2051C>G	NM_001127671.2	NP_001121143.1:p.(Thr684Ser)	NC_000005.9:g.38493722G>C	(Likely) benign	1 lab	5b942a10c3
17:61994701 GH1 A>G	17	61994701	61994701	A	G	GH1	c.622T>C	NM_000515.5	NP_000506.2:p.(Cys208Arg)	NC_000017.10:g.61994701A>G	VUS	1 lab	5bdb3cc5c9
12:21623284 RECQL C>CAAAAA	12	21623284	21623300	C	CAAAAA	RECQL	c.1798-9_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623296_21623300dup	(Likely) benign	1 lab	5b9561e066
11:20623216 SLC6A5 G>T	11	20623216	20623216	G	T	SLC6A5	c.540+5G>T	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20623216G>T	VUS	1 lab	5b96553aad
1:145460194 POLR3GL C>T	1	145460194	145460194	C	T	POLR3GL	c.29G>A	NM_032305.3	NP_115681.1:p.(Arg10His)	NC_000001.10:g.145460194C>T	(Likely) benign	1 lab	5b965bf6cf
X:77254065 ATP7A C>T	X	77254065	77254065	C	T	ATP7A	c.1427C>T	NM_000052.7	NP_000043.4:p.(Thr476Ile)	NC_000023.10:g.77254065C>T	(Likely) benign	1 lab	5b970e2be3
7:69722397 AUTS2 G>A	7	69722397	69722397	G	A	AUTS2	c.660+122840G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69722397G>A	(Likely) benign	1 lab	5b9919d9c9
15:41688732 NDUFAF1 C>T	15	41688732	41688732	C	T	NDUFAF1	c.526G>A	NM_016013.4	NP_057097.2:p.(Glu176Lys)	NC_000015.9:g.41688732C>T	(Likely) benign	1 lab	5b9a7091de
X:129339130 ZNF280C G>A	X	129339130	129339130	G	A	ZNF280C	c.2162-3C>T	NM_017666.5	NP_060136.1:p.?	NC_000023.10:g.129339130G>A	(Likely) benign	1 lab	5b9b8f7e9b
8:98718857 MTDH G>A	8	98718857	98718857	G	A	MTDH	c.1151G>A	NM_178812.4	NP_848927.2:p.(Gly384Asp)	NC_000008.10:g.98718857G>A	VUS	1 lab	5b9d1d3c3e
2:84670428 SUCLG1 C>G	2	84670428	84670428	C	G	SUCLG1	c.298G>C	NM_003849.4	NP_003840.2:p.(Val100Leu)	NC_000002.11:g.84670428C>G	VUS	1 lab	5b9d7008a2
8:20054924 ATP6V1B2 C>CTGCGGGCGA	8	20054924	20054939	C	CTGCGGGCGA	ATP6V1B2	c.14_22dup	NM_001693.4	NP_001684.2:p.(Ala5_Arg7dup)	NC_000008.10:g.20054931_20054939dup	VUS	1 lab	20fc7b2e4b
5:172660083 NKX2-5 C>A	5	172660083	172660083	C	A	NKX2-5	c.464G>T	NM_004387.4	NP_004378.1:p.(Arg155Leu)	NC_000005.9:g.172660083C>A	VUS	1 lab	5b9f6e06dc
22:29091682 CHEK2 T>C	22	29091682	29091682	T	C	CHEK2	c.1259+16A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091682T>C	(Likely) benign	1 lab	5b9f886d1e
16:86601074 FOXC2 C>T	16	86601074	86601074	C	T	FOXC2	c.133C>T	NM_005251.3	NP_005242.1:p.(Pro45Ser)	NC_000016.9:g.86601074C>T	(Likely) benign	1 lab	5ba086a244
9:73151180 TRPM3 G>A	9	73151180	73151180	G	A	TRPM3	c.4354C>T	NM_020952.6	NP_066003.3:p.(Arg1452Cys)	NC_000009.11:g.73151180G>A	VUS	1 lab	20fec0f8b7
16:4391463 PAM16 C>T	16	4391463	4391463	C	T	PAM16	c.131G>A	NM_016069.11	NP_057153.8:p.(Arg44Gln)	NC_000016.9:g.4391463C>T	(Likely) benign	1 lab	5ba28934ee
X:153296089 MECP2 T>TTTCC	X	153296089	153296090	T	TTTCC	MECP2	c.1225_1226insGGAA	NM_001110792.2	NP_001104262.1:p.(Glu409GlyfsTer9)	NC_000023.10:g.153296089_153296090insTTCC	(Likely) pathogenic	1 lab	5ba28db8fc
X:154741460 TMLHE G>C	X	154741460	154741460	G	C	TMLHE	c.639-7C>G	NM_018196.4	NP_060666.1:p.?	NC_000023.10:g.154741460G>C	VUS	1 lab	5bddc60748
15:40942535 KNL1 C>T	15	40942535	40942535	C	T	KNL1	c.6131C>T	NM_144508.5	NP_653091.3:p.(Pro2044Leu)	NC_000015.9:g.40942535C>T	(Likely) benign	1 lab	5ba30de51c
8:41798613 KAT6A T>G	8	41798613	41798613	T	G	KAT6A	c.2786A>C	NM_006766.5	NP_006757.2:p.(Gln929Pro)	NC_000008.10:g.41798613T>G	(Likely) benign	1 lab	5ba393ff22
4:119660331 SEC24D C>T	4	119660331	119660331	C	T	SEC24D	c.2350G>A	NM_014822.4	NP_055637.2:p.(Ala784Thr)	NC_000004.11:g.119660331C>T	VUS	1 lab	5ba4a320d5
8:26500952 DPYSL2 C>A	8	26500952	26500952	C	A	DPYSL2	c.1127-3C>A	NM_001197293.3	NP_001184222.1:p.?	NC_000008.10:g.26500952C>A	(Likely) benign	1 lab	5ba5fc6c66
21:47552435 COL6A2 T>G	21	47552435	47552435	T	G	COL6A2	c.3029T>G	NM_001849.4	NP_001840.3:p.(Phe1010Cys)	NC_000021.8:g.47552435T>G	VUS	1 lab	5ba76e7cb7
15:90196004 KIF7 C>G	15	90196004	90196004	C	G	KIF7	c.158G>C	NM_198525.3	NP_940927.2:p.(Arg53Pro)	NC_000015.9:g.90196004C>G	VUS	1 lab	5ba791c373
5:174151948 MSX2 G>T	5	174151948	174151948	G	T	MSX2	c.286G>T	NM_002449.5	NP_002440.2:p.(Val96Leu)	NC_000005.9:g.174151948G>T	(Likely) benign	1 lab	5ba8727b19
18:6947286 LAMA1 C>G	18	6947286	6947286	C	G	LAMA1	c.8720G>C	NM_005559.4	NP_005550.2:p.(Gly2907Ala)	NC_000018.9:g.6947286C>G	VUS	1 lab	5bab134a7b
11:65652450 FIBP G>A	11	65652450	65652450	G	A	FIBP	c.775C>T	NM_004214.5	NP_004205.2:p.(Arg259Trp)	NC_000011.9:g.65652450G>A	VUS	1 lab	5bdd23e0c9
6:36269760 PNPLA1 C>T	6	36269760	36269760	C	T	PNPLA1	c.898C>T	NM_001374623.1	NP_001361552.1:p.(Arg300Trp)	NC_000006.11:g.36269760C>T	(Likely) benign	1 lab	5bab56858b
10:61835298 ANK3 A>G	10	61835298	61835298	A	G	ANK3	c.5341T>C	NM_020987.5	NP_066267.2:p.(Tyr1781His)	NC_000010.10:g.61835298A>G	(Likely) benign	1 lab	5bac6bf9f8
8:43047493 HGSNAT A>G	8	43047493	43047493	A	G	HGSNAT	c.1297A>G	NM_152419.3	NP_689632.2:p.(Asn433Asp)	NC_000008.10:g.43047493A>G	VUS	1 lab	5baca6f136
19:22270959 ZNF257 G>A	19	22270959	22270959	G	A	ZNF257	c.407G>A	NM_033468.4	NP_258429.2:p.(Cys136Tyr)	NC_000019.9:g.22270959G>A	(Likely) benign	1 lab	5bad2c6924
8:97157036 GDF6 G>T	8	97157036	97157036	G	T	GDF6	c.1123C>A	NM_001001557.4	NP_001001557.1:p.(Pro375Thr)	NC_000008.10:g.97157036G>T	VUS	1 lab	5bad3b43b0
2:152359892 NEB C>T	2	152359892	152359892	C	T	NEB	c.23806G>A	NM_001164508.2	NP_001157980.2:p.(Val7936Ile)	NC_000002.11:g.152359892C>T	VUS	1 lab	5bae866a91
8:144992450 PLEC C>T	8	144992450	144992450	C	T	PLEC	c.11539G>A	NM_201384.3	NP_958786.1:p.(Val3847Met)	NC_000008.10:g.144992450C>T	(Likely) benign	1 lab	5baf55f229
7:152110637 KMT2C T>C	7	152110637	152110637	T	C	KMT2C	c.161+22074A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152110637T>C	(Likely) benign	1 lab	5baf8a5cb3
13:32905204 BRCA2 G>T	13	32905204	32905204	G	T	BRCA2	c.793+37G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905204G>T	(Likely) benign	1 lab	21fca70399
16:2147975 PKD1 C>A	16	2147975	2147975	C	A	PKD1	c.10061G>T	NM_001009944.3	NP_001009944.3:p.(Ser3354Ile)	NC_000016.9:g.2147975C>A	(Likely) benign	1 lab	5bafc2a5ec
2:42280448 PKDCC G>A	2	42280448	42280448	G	A	PKDCC	c.709G>A	NM_138370.3	NP_612379.2:p.(Ala237Thr)	NC_000002.11:g.42280448G>A	(Likely) benign	1 lab	5bafc55693
13:101755614 NALCN C>T	13	101755614	101755614	C	T	NALCN	c.2966G>A	NM_052867.4	NP_443099.1:p.(Arg989Gln)	NC_000013.10:g.101755614C>T	(Likely) pathogenic	1 lab	5bb0f2c4ec
12:56080164 ITGA7 T>G	12	56080164	56080164	T	G	ITGA7	c.3184-1092A>C	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56080164T>G	(Likely) benign	1 lab	21fdd07372
5:177422855 PROP1 G>A	5	177422855	177422855	G	A	PROP1	c.80C>T	NM_006261.5	NP_006252.4:p.(Pro27Leu)	NC_000005.9:g.177422855G>A	(Likely) benign	1 lab	5bb2699898
1:200528527 KIF14 T>TA	1	200528527	200528531	T	TA	KIF14	c.4283dup	NM_014875.3	NP_055690.1:p.(Leu1428PhefsTer15)	NC_000001.10:g.200528531dup	VUS	1 lab	5bb31b7cd7
11:44146535 EXT2 G>C	11	44146535	44146535	G	C	EXT2	c.939+1G>C	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44146535G>C	(Likely) pathogenic	1 lab	5bb337cb2d
4:178355549 AGA G>A	4	178355549	178355549	G	A	AGA	c.793C>T	NM_000027.4	NP_000018.2:p.(Arg265Cys)	NC_000004.11:g.178355549G>A	VUS	1 lab	5bb518711d
11:2946317 SLC67A1 C>T	11	2946317	2946317	C	T	SLC67A1	c.1165C>T	NM_002555.6	NP_002546.3:p.(Arg389Cys)	NC_000011.9:g.2946317C>T	(Likely) benign	1 lab	5bb5b94995
21:33642808 MIS18A G>A	21	33642808	33642808	G	A	MIS18A	c.434C>T	NM_018944.3	NP_061817.1:p.(Ser145Leu)	NC_000021.8:g.33642808G>A	VUS	1 lab	5bb6c548ad
1:2452159 PANK4 T>A	1	2452159	2452159	T	A	PANK4	c.606+3A>T	NM_018216.4	NP_060686.3:p.?	NC_000001.10:g.2452159T>A	VUS	1 lab	5bb6cd0b44
11:118373721 KMT2A C>A	11	118373721	118373721	C	A	KMT2A	c.7114C>A	NM_001197104.2	NP_001184033.1:p.(His2372Asn)	NC_000011.9:g.118373721C>A	(Likely) benign	1 lab	5bb787286c
15:99486194 IGF1R G>A	15	99486194	99486194	G	A	IGF1R	c.3500G>A	NM_000875.5	NP_000866.1:p.(Arg1167Gln)	NC_000015.9:g.99486194G>A	VUS	1 lab	5bb7aa9f28
8:6479122 MCPH1 C>T	8	6479122	6479122	C	T	MCPH1	c.2362C>T	NM_024596.5	NP_078872.3:p.(Gln788Ter)	NC_000008.10:g.6479122C>T	(Likely) pathogenic	1 lab	5bb7f2d1c1
6:31691666 MPIG6B C>A	6	31691666	31691666	C	A	MPIG6B	c.312C>A	NM_138272.3	NP_612116.1:p.(Gly104=)	NC_000006.11:g.31691666C>A	(Likely) benign	1 lab	5bb94241b8
1:23405594 KDM1A C>T	1	23405594	23405594	C	T	KDM1A	c.1979C>T	NM_001009999.3	NP_001009999.1:p.(Ala660Val)	NC_000001.10:g.23405594C>T	(Likely) benign	1 lab	5bb98cb955
2:220435362 OBSL1 G>T	2	220435362	220435362	G	T	OBSL1	c.593C>A	NM_015311.3	NP_056126.1:p.(Ala198Glu)	NC_000002.11:g.220435362G>T	(Likely) benign	1 lab	5bb9e9fc0d
5:171849487 SH3PXD2B C>T	5	171849487	171849487	C	T	SH3PXD2B	c.89G>A	NM_001017995.3	NP_001017995.1:p.(Arg30Gln)	NC_000005.9:g.171849487C>T	(Likely) benign	1 lab	5bba12fc64
16:87380777 FBXO31 T>TA	16	87380777	87380778	T	TA	FBXO31	c.489+2dup	NM_024735.5	NP_079011.3:p.?	NC_000016.9:g.87380778dup	VUS	1 lab	5bbb6500bf
17:21318748 KCNJ12 G>C	17	21318748	21318748	G	C	KCNJ12	c.94G>C	NM_021012.5	NP_066292.2:p.(Gly32Arg)	NC_000017.10:g.21318748G>C	VUS	1 lab	5bbd3b3a05
16:2147517 PKD1 C>T	16	2147517	2147517	C	T	PKD1	c.10221-13G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147517C>T	(Likely) benign	1 lab	5bceb1217a
17:15965566 NCOR1 C>T	17	15965566	15965566	C	T	NCOR1	c.5240G>A	NM_006311.4	NP_006302.2:p.(Arg1747Gln)	NC_000017.10:g.15965566C>T	VUS	1 lab	5bc2185d3e
2:152373095 NEB T>C	2	152373095	152373095	T	C	NEB	c.22801-18A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152373095T>C	(Likely) benign	1 lab	5bc328a998
16:56226155 GNAO1 G>A	16	56226155	56226155	G	A	GNAO1	c.8G>A	NM_020988.3	NP_066268.1:p.(Cys3Tyr)	NC_000016.9:g.56226155G>A	VUS	1 lab	5bc32b1d3a
3:12458225 PPARG A>G	3	12458225	12458225	A	G	PPARG	c.752A>G	NM_138711.6	NP_619725.3:p.(Asn251Ser)	NC_000003.11:g.12458225A>G	VUS	1 lab	5bc3c4b720
10:71665574 COL13A1 G>A	10	71665574	71665574	G	A	COL13A1	c.917G>A	NM_001368882.1	NP_001355811.1:p.(Arg306Gln)	NC_000010.10:g.71665574G>A	(Likely) benign	1 lab	5bc5c89e9a
17:36046930 HNF1B T>C	17	36046930	36046930	T	C	HNF1B	c.*445A>G	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36046930T>C	VUS	1 lab	5bc6b14159
16:15841755 MYH11 G>A	16	15841755	15841755	G	A	MYH11	c.2247C>T	NM_001040113.2	NP_001035202.1:p.(Asp749=)	NC_000016.9:g.15841755G>A	(Likely) benign	1 lab	2203b5b10b
11:64572098 MEN1 G>C	11	64572098	64572098	G	C	MEN1	c.1541C>G	NM_001370259.2	NP_001357188.2:p.(Pro514Arg)	NC_000011.9:g.64572098G>C	VUS	1 lab	5bca0aedca
7:31793141 PDE1C T>A	7	31793141	31793141	T	A	PDE1C	c.1987A>T	NM_001191057.4	NP_001177986.1:p.(Lys663Ter)	NC_000007.13:g.31793141T>A	VUS	1 lab	5bcc604fa8
6:117198667 RFX6 T>G	6	117198667	117198667	T	G	RFX6	c.223+6T>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117198667T>G	(Likely) benign	1 lab	5bcd0bc48f
3:114099172 ZBTB20 G>C	3	114099172	114099172	G	C	ZBTB20	c.91C>G	NM_001348800.3	NP_001335729.1:p.(Pro31Ala)	NC_000003.11:g.114099172G>C	VUS	1 lab	5bce83f58a
X:69623855 KIF4A G>C	X	69623855	69623855	G	C	KIF4A	c.2761G>C	NM_012310.5	NP_036442.3:p.(Val921Leu)	NC_000023.10:g.69623855G>C	VUS	1 lab	5bd0192e59
7:151791559 GALNT11 C>T	7	151791559	151791559	C	T	GALNT11	c.247C>T	NM_022087.4	NP_071370.2:p.(Arg83Cys)	NC_000007.13:g.151791559C>T	VUS	1 lab	5bd127959f
3:25805805 NGLY1 G>T	3	25805805	25805805	G	T	NGLY1	c.247-3C>A	NM_018297.4	NP_060767.2:p.?	NC_000003.11:g.25805805G>T	VUS	1 lab	5bd1af7170
16:333339 PDIA2 G>A	16	333339	333339	G	A	PDIA2	c.170G>A	NM_006849.4	NP_006840.2:p.(Arg57Gln)	NC_000016.9:g.333339G>A	VUS	1 lab	5bd1c567d2
15:52676392 MYO5A A>G	15	52676392	52676392	A	G	MYO5A	c.1880T>C	NM_001382347.1	NP_001369276.1:p.(Met627Thr)	NC_000015.9:g.52676392A>G	(Likely) benign	1 lab	5bd21ea8d9
9:35809230 NPR2 G>A	9	35809230	35809230	G	A	NPR2	c.3064G>A	NM_003995.4	NP_003986.2:p.(Asp1022Asn)	NC_000009.11:g.35809230G>A	VUS	1 lab	5bd40b1dfb
2:115919570 DPP10 G>T	2	115919570	115919570	G	T	DPP10	c.61-147245G>T	NM_020868.6	NP_065919.3:p.?	NC_000002.11:g.115919570G>T	VUS	1 lab	5bd42e54a1
X:101912737 GPRASP1 T>C	X	101912737	101912737	T	C	GPRASP1	c.3896T>C	NM_001184727.2	NP_001171656.1:p.(Met1299Thr)	NC_000023.10:g.101912737T>C	(Likely) benign	1 lab	5bd50a91c1
X:114426319 RBMXL3 G>T	X	114426319	114426319	G	T	RBMXL3	c.2315G>T	NM_001145346.2	NP_001138818.1:p.(Arg772Leu)	NC_000023.10:g.114426319G>T	VUS	1 lab	5bd560e8cc
X:149761144 MTM1 GT>G	X	149761144	149761146	GT	G	MTM1	c.63+7del	NM_000252.3	NP_000243.1:p.?	NC_000023.10:g.149761146del	VUS	1 lab	5bd61ae17b
19:1004512 GRIN3B G>C	19	1004512	1004512	G	C	GRIN3B	c.1020-8G>C	NM_138690.3	NP_619635.1:p.?	NC_000019.9:g.1004512G>C	(Likely) benign	1 lab	5bd7aefa86
17:10432348 MYH2 G>A	17	10432348	10432348	G	A	MYH2	c.3403C>T	NM_017534.6	NP_060004.3:p.(Arg1135Trp)	NC_000017.10:g.10432348G>A	VUS	1 lab	5bdc540716
3:172165699 GHSR C>T	3	172165699	172165699	C	T	GHSR	c.505G>A	NM_198407.2	NP_940799.1:p.(Ala169Thr)	NC_000003.11:g.172165699C>T	(Likely) benign	1 lab	5bdca02a6c
17:1630111 WDR81 G>A	17	1630111	1630111	G	A	WDR81	c.1858G>A	NM_001163809.2	NP_001157281.1:p.(Glu620Lys)	NC_000017.10:g.1630111G>A	VUS	1 lab	5bdf225a6b
X:135084262 SLC9A6 A>G	X	135084262	135084262	A	G	SLC9A6	c.638-5A>G	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135084262A>G	(Likely) benign	1 lab	5be05207a8
8:11996032 USP17L2 C>G	8	11996032	11996032	C	G	USP17L2	c.238G>C	NM_201402.3	NP_958804.2:p.(Ala80Pro)	NC_000008.10:g.11996032C>G	(Likely) benign	1 lab	5be06a8764
2:27535926 MPV17 G>A	2	27535926	27535926	G	A	MPV17	c.121C>T	NM_002437.5	NP_002428.1:p.(Arg41Trp)	NC_000002.11:g.27535926G>A	(Likely) pathogenic	1 lab	5be0bfdab5
18:31323749 ASXL3 A>C	18	31323749	31323749	A	C	ASXL3	c.3937A>C	NM_030632.3	NP_085135.1:p.(Ser1313Arg)	NC_000018.9:g.31323749A>C	(Likely) benign	1 lab	5be307317d
2:179544389 TTN G>T	2	179544389	179544389	G	T	TTN	c.33601C>A	NM_001267550.2	NP_001254479.2:p.(Pro11201Thr)	NC_000002.11:g.179544389G>T	VUS	1 lab	5be46d2dc4
18:47787610 CFAP53 G>T	18	47787610	47787610	G	T	CFAP53	c.300-3C>A	NM_145020.5	NP_659457.2:p.?	NC_000018.9:g.47787610G>T	VUS	1 lab	5be5662155
6:73332155 KCNQ5 C>T	6	73332155	73332155	C	T	KCNQ5	c.238C>T	NM_019842.4	NP_062816.2:p.(Arg80Trp)	NC_000006.11:g.73332155C>T	VUS	1 lab	5be6e0079a
20:10628688 JAG1 T>TA	20	10628688	10628689	T	TA	JAG1	c.1639dup	NM_000214.3	NP_000205.1:p.(Tyr547LeufsTer10)	NC_000020.10:g.10628689dup	(Likely) pathogenic	1 lab	5be7247bf9
17:38249532 NR1D1 C>G	17	38249532	38249532	C	G	NR1D1	c.1649G>C	NM_021724.5	NP_068370.1:p.(Arg550Pro)	NC_000017.10:g.38249532C>G	VUS	1 lab	5be78d0812
15:89392960 ACAN G>A	15	89392960	89392960	G	A	ACAN	c.2024G>A	NM_001369268.1	NP_001356197.1:p.(Arg675Gln)	NC_000015.9:g.89392960G>A	(Likely) benign	1 lab	5be86fad26
X:128888517 XPNPEP2 G>A	X	128888517	128888517	G	A	XPNPEP2	c.1177G>A	NM_003399.6	NP_003390.4:p.(Asp393Asn)	NC_000023.10:g.128888517G>A	VUS	1 lab	5be896fcdf
4:48530238 FRYL G>T	4	48530238	48530238	G	T	FRYL	c.7019C>A	NM_015030.2	NP_055845.1:p.(Ser2340Tyr)	NC_000004.11:g.48530238G>T	(Likely) benign	1 lab	5be8e3f010
1:2161151 SKI A>T	1	2161151	2161151	A	T	SKI	c.946A>T	NM_003036.4	NP_003027.1:p.(Lys316Ter)	NC_000001.10:g.2161151A>T	VUS	1 lab	5be912f62f
22:18355587 MICAL3 A>G	22	18355587	18355587	A	G	MICAL3	c.2242-798T>C	NM_015241.3	NP_056056.2:p.?	NC_000022.10:g.18355587A>G	VUS	1 lab	5be982445f
5:176637009 NSD1 T>C	5	176637009	176637009	T	C	NSD1	c.1609T>C	NM_022455.5	NP_071900.2:p.(Phe537Leu)	NC_000005.9:g.176637009T>C	VUS	1 lab	5beb07a9c8
4:1801200 FGFR3 G>A	4	1801200	1801200	G	A	FGFR3	c.329G>A	NM_000142.5	NP_000133.1:p.(Arg110Gln)	NC_000004.11:g.1801200G>A	(Likely) benign	1 lab	5beb84755d
15:89402251 ACAN T>C	15	89402251	89402251	T	C	ACAN	c.6435T>C	NM_001369268.1	NP_001356197.1:p.(Ser2145=)	NC_000015.9:g.89402251T>C	(Likely) benign	1 lab	5becd6d6db
9:140062280 GRIN1 A>G	9	140062280	140062280	A	G	GRIN1	c.*301A>G	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140062280A>G	VUS	1 lab	5bed6ca0db
20:58440630 SYCP2 C>T	20	58440630	58440630	C	T	SYCP2	c.4456G>A	NM_014258.4	NP_055073.2:p.(Glu1486Lys)	NC_000020.10:g.58440630C>T	VUS	1 lab	5bf29bbb1c
8:41791408 KAT6A G>C	8	41791408	41791408	G	C	KAT6A	c.4330C>G	NM_006766.5	NP_006757.2:p.(Gln1444Glu)	NC_000008.10:g.41791408G>C	VUS	1 lab	5bf3b3759b
X:51638597 MAGED1 A>T	X	51638597	51638597	A	T	MAGED1	c.494A>T	NM_006986.4	NP_008917.3:p.(Gln165Leu)	NC_000023.10:g.51638597A>T	VUS	1 lab	5bf4f26e93
11:66638573 PC C>T	11	66638573	66638573	C	T	PC	c.583G>A	NM_001040716.2	NP_001035806.1:p.(Ala195Thr)	NC_000011.9:g.66638573C>T	VUS	1 lab	5bf80d4e88
19:50918797 POLD1 C>T	19	50918797	50918797	C	T	POLD1	c.2667C>T	NM_002691.4	NP_002682.2:p.(Arg889=)	NC_000019.9:g.50918797C>T	(Likely) benign	1 lab	5bf941d3be
1:15430693 KAZN C>T	1	15430693	15430693	C	T	KAZN	c.2048+8C>T	NM_201628.3	NP_963922.2:p.?	NC_000001.10:g.15430693C>T	(Likely) benign	1 lab	5bf97f4b45
10:24831866 KIAA1217 G>C	10	24831866	24831866	G	C	KIAA1217	c.3667G>C	NM_019590.5	NP_062536.2:p.(Glu1223Gln)	NC_000010.10:g.24831866G>C	VUS	1 lab	5bf9b5a16a
8:65493989 BHLHE22 CGGCGGT>C	8	65493989	65494001	CGGCGGT	C	BHLHE22	c.649_654del	NM_152414.5	NP_689627.1:p.(Gly217_Gly218del)	NC_000008.10:g.65493996_65494001del	(Likely) benign	1 lab	5bfc9861b9
17:4859365 ENO3 G>A	17	4859365	4859365	G	A	ENO3	c.994G>A	NM_053013.4	NP_443739.3:p.(Val332Ile)	NC_000017.10:g.4859365G>A	(Likely) benign	1 lab	5bfd18bd1c
11:77825034 ALG8 A>G	11	77825034	77825034	A	G	ALG8	c.675T>C	NM_024079.5	NP_076984.2:p.(Asp225=)	NC_000011.9:g.77825034A>G	(Likely) benign	1 lab	5bfd255996
X:68382835 PJA1 C>T	X	68382835	68382835	C	T	PJA1	c.82G>A	NM_001032396.4	NP_001027568.1:p.(Glu28Lys)	NC_000023.10:g.68382835C>T	VUS	1 lab	5bfe004611
1:161133956 USP21 A>G	1	161133956	161133956	A	G	USP21	c.1221A>G	NM_001014443.3	NP_001014443.1:p.(Lys407=)	NC_000001.10:g.161133956A>G	VUS	1 lab	5bfe31b6b6
12:117962775 KSR2 C>T	12	117962775	117962775	C	T	KSR2	c.2101G>A	NM_173598.6	NP_775869.4:p.(Glu701Lys)	NC_000012.11:g.117962775C>T	VUS	1 lab	5bfe3cb8b7
3:160253680 KPNA4 T>C	3	160253680	160253680	T	C	KPNA4	c.120A>G	NM_002268.5	NP_002259.1:p.(Lys40=)	NC_000003.11:g.160253680T>C	VUS	1 lab	5bfe9a7d13
17:7749930 KDM6B C>G	17	7749930	7749930	C	G	KDM6B	c.583C>G	NM_001348716.2	NP_001335645.1:p.(Pro195Ala)	NC_000017.10:g.7749930C>G	(Likely) benign	1 lab	5c0199b1ec
3:145788597 PLOD2 G>C	3	145788597	145788597	G	C	PLOD2	c.2184C>G	NM_182943.3	NP_891988.1:p.(Ser728Arg)	NC_000003.11:g.145788597G>C	(Likely) benign	1 lab	5c02f4f78e
7:69726072 AUTS2 A>C	7	69726072	69726072	A	C	AUTS2	c.660+126515A>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69726072A>C	(Likely) benign	1 lab	5c03c249c7
15:48789489 FBN1 A>G	15	48789489	48789489	A	G	FBN1	c.2267T>C	NM_000138.5	NP_000129.3:p.(Val756Ala)	NC_000015.9:g.48789489A>G	VUS	1 lab	5c042a52bf
19:5111787 KDM4B C>G	19	5111787	5111787	C	G	KDM4B	c.1115+958C>G	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5111787C>G	(Likely) benign	1 lab	5c044df6f9
12:12279711 LRP6 A>G	12	12279711	12279711	A	G	LRP6	c.4226T>C	NM_002336.3	NP_002327.2:p.(Met1409Thr)	NC_000012.11:g.12279711A>G	VUS	1 lab	5c0456a8f3
X:18221980 BEND2 C>A	X	18221980	18221980	C	A	BEND2	c.548G>T	NM_153346.5	NP_699177.2:p.(Ser183Ile)	NC_000023.10:g.18221980C>A	(Likely) benign	1 lab	5c04baf932
22:42611091 TCF20 G>C	22	42611091	42611091	G	C	TCF20	c.221C>G	NM_001378418.1	NP_001365347.1:p.(Ser74Cys)	NC_000022.10:g.42611091G>C	VUS	1 lab	5c05f0612c
2:179399019 TTN G>T	2	179399019	179399019	G	T	TTN	c.102323C>A	NM_001267550.2	NP_001254479.2:p.(Ala34108Glu)	NC_000002.11:g.179399019G>T	VUS	1 lab	5c0653a26b
4:110772874 LRIT3 C>G	4	110772874	110772874	C	G	LRIT3	c.331C>G	NM_198506.5	NP_940908.3:p.(Arg111Gly)	NC_000004.11:g.110772874C>G	(Likely) benign	1 lab	5c0aca5e83
X:152684158 ZFP92 G>A	X	152684158	152684158	G	A	ZFP92	c.61G>A	NM_001136273.2	NP_001129745.1:p.(Val21Met)	NC_000023.10:g.152684158G>A	(Likely) benign	1 lab	5c0c4686b0
3:197417989 RUBCN A>G	3	197417989	197417989	A	G	RUBCN	c.1786+2597T>C	NM_014687.4	NP_055502.1:p.?	NC_000003.11:g.197417989A>G	VUS	1 lab	5c0c8592ae
11:836124 CD151 C>G	11	836124	836124	C	G	CD151	c.55C>G	NM_004357.5	NP_004348.2:p.(Leu19Val)	NC_000011.9:g.836124C>G	VUS	1 lab	5c0cad708d
17:29554280 NF1 A>G	17	29554280	29554280	A	G	NF1	c.2296A>G	NM_001042492.3	NP_001035957.1:p.(Ile766Val)	NC_000017.10:g.29554280A>G	VUS	1 lab	5c0d817b71
1:8803428 RERE C>G	1	8803428	8803428	C	G	RERE	c.-145+73791G>C	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8803428C>G	(Likely) benign	1 lab	5c0e1a1731
X:40498253 CXorf38 G>A	X	40498253	40498253	G	A	CXorf38	c.471+8C>T	NM_144970.3	NP_659407.1:p.?	NC_000023.10:g.40498253G>A	(Likely) benign	1 lab	5c0f440560
2:179427578 TTN C>T	2	179427578	179427578	C	T	TTN	c.83281G>A	NM_001267550.2	NP_001254479.2:p.(Val27761Ile)	NC_000002.11:g.179427578C>T	VUS	1 lab	5c0f8bec25
1:186077734 HMCN1 A>G	1	186077734	186077734	A	G	HMCN1	c.10989+5A>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186077734A>G	(Likely) benign	1 lab	5c107bf616
2:240951038 NDUFA10 T>C	2	240951038	240951038	T	C	NDUFA10	c.745A>G	NM_004544.4	NP_004535.1:p.(Met249Val)	NC_000002.11:g.240951038T>C	(Likely) benign	1 lab	5c116d98e8
5:90002072 ADGRV1 C>T	5	90002072	90002072	C	T	ADGRV1	c.8591C>T	NM_032119.4	NP_115495.3:p.(Thr2864Met)	NC_000005.9:g.90002072C>T	VUS	1 lab	5c12bef64c
2:179526687 TTN G>T	2	179526687	179526687	G	T	TTN	c.37189C>A	NM_001267550.2	NP_001254479.2:p.(Pro12397Thr)	NC_000002.11:g.179526687G>T	VUS	1 lab	5c148f8152
7:4825945 AP5Z1 G>A	7	4825945	4825945	G	A	AP5Z1	c.1197G>A	NM_014855.3	NP_055670.1:p.(Glu399=)	NC_000007.13:g.4825945G>A	(Likely) benign	1 lab	5c15104797
17:40125649 CNP C>T	17	40125649	40125649	C	T	CNP	c.973C>T	NM_033133.5	NP_149124.3:p.(Arg325Trp)	NC_000017.10:g.40125649C>T	VUS	1 lab	5c1536be8a
13:39266207 FREM2 C>G	13	39266207	39266207	C	G	FREM2	c.4726C>G	NM_207361.6	NP_997244.4:p.(Pro1576Ala)	NC_000013.10:g.39266207C>G	(Likely) benign	1 lab	5c185a8578
19:8200976 FBN3 G>A	19	8200976	8200976	G	A	FBN3	c.1466-6C>T	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8200976G>A	(Likely) benign	1 lab	5c1accf698
14:70418979 SMOC1 G>A	14	70418979	70418979	G	A	SMOC1	c.224G>A	NM_001034852.3	NP_001030024.1:p.(Arg75Gln)	NC_000014.8:g.70418979G>A	VUS	1 lab	5c1c4bc863
17:57768030 CLTC AAAG>A	17	57768030	57768041	AAAG	A	CLTC	c.4870_4872del	NM_004859.4	NP_004850.1:p.(Glu1624del)	NC_000017.10:g.57768039_57768041del	(Likely) benign	1 lab	5c1c925295
1:94668200 ARHGAP29 C>T	1	94668200	94668200	C	T	ARHGAP29	c.1043G>A	NM_004815.4	NP_004806.3:p.(Arg348His)	NC_000001.10:g.94668200C>T	VUS	1 lab	5c1ce3e387
12:2714958 CACNA1C G>C	12	2714958	2714958	G	C	CACNA1C	c.3156+6G>C	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2714958G>C	(Likely) benign	1 lab	5c1cf18025
20:45354624 SLC2A10 G>A	20	45354624	45354624	G	A	SLC2A10	c.949G>A	NM_030777.4	NP_110404.1:p.(Val317Ile)	NC_000020.10:g.45354624G>A	VUS	1 lab	5c1deb61cd
13:28494611 PDX1 C>G	13	28494611	28494611	C	G	PDX1	c.336C>G	NM_000209.4	NP_000200.1:p.(Pro112=)	NC_000013.10:g.28494611C>G	(Likely) benign	1 lab	5c1ec837b4
15:74474502 STRA6 C>T	15	74474502	74474502	C	T	STRA6	c.1520G>A	NM_022369.4	NP_071764.3:p.(Arg507Gln)	NC_000015.9:g.74474502C>T	VUS	1 lab	5c1fa54b1f
9:130984516 DNM1 G>A	9	130984516	130984516	G	A	DNM1	c.890G>A	NM_004408.4	NP_004399.2:p.(Arg297Gln)	NC_000009.11:g.130984516G>A	(Likely) benign	1 lab	5c20034673
1:154544410 CHRNB2 G>T	1	154544410	154544410	G	T	CHRNB2	c.1111G>T	NM_000748.3	NP_000739.1:p.(Glu371Ter)	NC_000001.10:g.154544410G>T	VUS	1 lab	5c20512836
6:35216340 SCUBE3 AG>A	6	35216340	35216341	AG	A	SCUBE3	c.2841del	NM_152753.4	NP_689966.2:p.(Lys947AsnfsTer10)	NC_000006.11:g.35216341del	(Likely) pathogenic	1 lab	5c21ec4dea
18:46812881 DYM A>G	18	46812881	46812881	A	G	DYM	c.869T>C	NM_001353214.3	NP_001340143.1:p.(Val290Ala)	NC_000018.9:g.46812881A>G	VUS	1 lab	5c242baf97
10:21147189 NEBL CT>C	10	21147189	21147192	CT	C	NEBL	c.882del	NM_006393.3	NP_006384.1:p.(Ala295ProfsTer43)	NC_000010.10:g.21147192del	VUS	1 lab	220603b3bc
8:104940084 RIMS2 TAGA>T	8	104940084	104940091	TAGA	T	RIMS2	c.2470-3402_2470-3400del	NM_001348484.3	NP_001335413.1:p.?	NC_000008.10:g.104940089_104940091del	VUS	1 lab	5c25b9764f
18:47581751 MYO5B G>T	18	47581751	47581751	G	T	MYO5B	c.28-3C>A	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47581751G>T	VUS	1 lab	5c2646ba08
16:2140320 PKD1 A>G	16	2140320	2140320	A	G	PKD1	c.12410T>C	NM_001009944.3	NP_001009944.3:p.(Leu4137Pro)	NC_000016.9:g.2140320A>G	(Likely) pathogenic	1 lab	5c26cdeddf
12:70723302 CNOT2 C>A	12	70723302	70723302	C	A	CNOT2	c.338C>A	NM_014515.7	NP_055330.1:p.(Thr113Lys)	NC_000012.11:g.70723302C>A	VUS	1 lab	5c26fe9d1f
3:11300677 HRH1 C>G	3	11300677	11300677	C	G	HRH1	c.-35-12C>G	NM_001098213.2	NP_001091683.1:p.?	NC_000003.11:g.11300677C>G	(Likely) benign	1 lab	2206fe1c68
15:40488914 BUB1B A>C	15	40488914	40488914	A	C	BUB1B	c.1227A>C	NM_001211.6	NP_001202.5:p.(Glu409Asp)	NC_000015.9:g.40488914A>C	VUS	1 lab	5c280541ce
14:21873482 CHD8 A>C	14	21873482	21873482	A	C	CHD8	c.3193T>G	NM_001170629.2	NP_001164100.1:p.(Leu1065Val)	NC_000014.8:g.21873482A>C	VUS	1 lab	5c29f017bd
15:81282152 MESD G>A	15	81282152	81282152	G	A	MESD	c.-20C>T	NM_015154.3	NP_055969.1:p.?	NC_000015.9:g.81282152G>A	(Likely) benign	1 lab	5c2a3701c6
9:133281475 HMCN2 A>G	9	133281475	133281475	A	G	HMCN2	c.12473A>G	NM_001291815.2	NP_001278744.1:p.(Asp4158Gly)	NC_000009.11:g.133281475A>G	VUS	1 lab	5c2c0fefca
1:120539662 NOTCH2 G>A	1	120539662	120539662	G	A	NOTCH2	c.709C>T	NM_024408.4	NP_077719.2:p.(Arg237Trp)	NC_000001.10:g.120539662G>A	(Likely) benign	1 lab	5c2ea0835e
2:48049377 FBXO11 A>G	2	48049377	48049377	A	G	FBXO11	c.1682T>C	NM_001190274.2	NP_001177203.1:p.(Ile561Thr)	NC_000002.11:g.48049377A>G	VUS	1 lab	5c2f7105d4
3:46621330 CRIPTO G>C	3	46621330	46621330	G	C	CRIPTO	c.325G>C	NM_003212.4	NP_003203.1:p.(Asp109His)	NC_000003.11:g.46621330G>C	(Likely) benign	1 lab	5c30401720
12:49498284 LMBR1L T>G	12	49498284	49498284	T	G	LMBR1L	c.382A>C	NM_018113.4	NP_060583.2:p.(Met128Leu)	NC_000012.11:g.49498284T>G	(Likely) benign	1 lab	5c30fd8594
14:65262093 SPTB C>T	14	65262093	65262093	C	T	SPTB	c.1606G>A	NM_001355436.2	NP_001342365.1:p.(Asp536Asn)	NC_000014.8:g.65262093C>T	VUS	1 lab	5c314928d7
1:155450284 ASH1L A>C	1	155450284	155450284	A	C	ASH1L	c.2377T>G	NM_018489.3	NP_060959.2:p.(Leu793Val)	NC_000001.10:g.155450284A>C	(Likely) benign	1 lab	5c32037566
6:30689738 TUBB C>T	6	30689738	30689738	C	T	TUBB	c.58-576C>T	NM_178014.4	NP_821133.1:p.?	NC_000006.11:g.30689738C>T	VUS	1 lab	5c322b51f4
9:69201069 FOXD4L6 A>T	9	69201069	69201069	A	T	FOXD4L6	c.544T>A	NM_001085476.4	NP_001078945.1:p.(Trp182Arg)	NC_000009.11:g.69201069A>T	(Likely) benign	1 lab	5c33650a30
4:121958002 NDNF G>A	4	121958002	121958002	G	A	NDNF	c.1124C>T	NM_024574.4	NP_078850.3:p.(Thr375Ile)	NC_000004.11:g.121958002G>A	VUS	1 lab	5c336b744a
10:15590522 ITGA8 G>A	10	15590522	15590522	G	A	ITGA8	c.2812C>T	NM_003638.3	NP_003629.2:p.(Arg938Ter)	NC_000010.10:g.15590522G>A	VUS	1 lab	5c34a3c9c4
11:66618207 PC A>G	11	66618207	66618207	A	G	PC	c.2411T>C	NM_001040716.2	NP_001035806.1:p.(Met804Thr)	NC_000011.9:g.66618207A>G	VUS	1 lab	5c35624d65
2:179563642 TTN C>A	2	179563642	179563642	C	A	TTN	c.30683-1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563642C>A	VUS	1 lab	5c3691bb1f
4:6296790 WFS1 T>C	4	6296790	6296790	T	C	WFS1	c.735T>C	NM_006005.3	NP_005996.2:p.(Asp245=)	NC_000004.11:g.6296790T>C	(Likely) benign	1 lab	5c37491660
11:88911829 TYR G>A	11	88911829	88911829	G	A	TYR	c.708G>A	NM_000372.5	NP_000363.1:p.(Trp236Ter)	NC_000011.9:g.88911829G>A	VUS	1 lab	5c3795b41d
12:22625681 C2CD5 A>G	12	22625681	22625681	A	G	C2CD5	c.2104T>C	NM_001286176.2	NP_001273105.1:p.(Ser702Pro)	NC_000012.11:g.22625681A>G	VUS	1 lab	5c38dbde4a
17:41738791 MEOX1 A>T	17	41738791	41738791	A	T	MEOX1	c.112T>A	NM_004527.4	NP_004518.1:p.(Tyr38Asn)	NC_000017.10:g.41738791A>T	VUS	1 lab	5c3921a202
9:101816909 COL15A1 A>G	9	101816909	101816909	A	G	COL15A1	c.3002A>G	NM_001855.5	NP_001846.3:p.(Lys1001Arg)	NC_000009.11:g.101816909A>G	(Likely) benign	1 lab	5c394006b3
3:53806867 CACNA1D C>T	3	53806867	53806867	C	T	CACNA1D	c.4052C>T	NM_001128840.3	NP_001122312.1:p.(Pro1351Leu)	NC_000003.11:g.53806867C>T	VUS	1 lab	5c433fb3fc
1:154574418 ADAR A>C	1	154574418	154574418	A	C	ADAR	c.700T>G	NM_001111.5	NP_001102.3:p.(Ser234Ala)	NC_000001.10:g.154574418A>C	VUS	1 lab	5c4363c335
11:68183973 LRP5 G>A	11	68183973	68183973	G	A	LRP5	c.3005G>A	NM_002335.4	NP_002326.2:p.(Arg1002Gln)	NC_000011.9:g.68183973G>A	VUS	1 lab	5c44afe651
3:123332957 MYLK C>A	3	123332957	123332957	C	A	MYLK	c.5740G>T	NM_053025.4	NP_444253.3:p.(Glu1914Ter)	NC_000003.11:g.123332957C>A	VUS	1 lab	5c44de5099
2:152492796 NEB C>T	2	152492796	152492796	C	T	NEB	c.9047G>A	NM_001164508.2	NP_001157980.2:p.(Arg3016Gln)	NC_000002.11:g.152492796C>T	VUS	1 lab	5c45daf619
1:225332209 DNAH14 T>C	1	225332209	225332209	T	C	DNAH14	c.4619T>C	NM_001367479.1	NP_001354408.1:p.(Ile1540Thr)	NC_000001.10:g.225332209T>C	VUS	1 lab	5c45fcb70c
15:89383392 ACAN G>A	15	89383392	89383392	G	A	ACAN	c.604G>A	NM_001369268.1	NP_001356197.1:p.(Gly202Ser)	NC_000015.9:g.89383392G>A	VUS	1 lab	5c46c0310b
2:179611884 TTN T>C	2	179611884	179611884	T	C	TTN	c.11312-5236A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611884T>C	VUS	1 lab	5c471ff7f7
1:11273472 MTOR C>G	1	11273472	11273472	C	G	MTOR	c.3269G>C	NM_004958.4	NP_004949.1:p.(Arg1090Pro)	NC_000001.10:g.11273472C>G	VUS	1 lab	5c478d1043
17:7107349 DLG4 T>A	17	7107349	7107349	T	A	DLG4	c.188A>T	NM_001321075.3	NP_001308004.1:p.(Tyr63Phe)	NC_000017.10:g.7107349T>A	VUS	1 lab	5c47b4fcb1
19:55888361 TMEM190 G>A	19	55888361	55888361	G	A	TMEM190	c.61G>A	NM_139172.3	NP_631911.1:p.(Gly21Arg)	NC_000019.9:g.55888361G>A	VUS	1 lab	5c4926e05b
2:73195646 SFXN5 G>A	2	73195646	73195646	G	A	SFXN5	c.758C>T	NM_144579.3	NP_653180.1:p.(Ala253Val)	NC_000002.11:g.73195646G>A	(Likely) benign	1 lab	5c49530510
4:104082288 CENPE C>T	4	104082288	104082288	C	T	CENPE	c.2086G>A	NM_001813.3	NP_001804.2:p.(Glu696Lys)	NC_000004.11:g.104082288C>T	VUS	1 lab	5c4b7d22e1
19:7267374 INSR G>C	19	7267374	7267374	G	C	INSR	c.634C>G	NM_000208.4	NP_000199.2:p.(His212Asp)	NC_000019.9:g.7267374G>C	(Likely) benign	1 lab	5c4b8e4c92
16:88788731 PIEZO1 G>A	16	88788731	88788731	G	A	PIEZO1	c.4850C>T	NM_001142864.4	NP_001136336.2:p.(Thr1617Met)	NC_000016.9:g.88788731G>A	(Likely) benign	1 lab	5c4c29431f
3:122003716 CASR C>T	3	122003716	122003716	C	T	CASR	c.2915C>T	NM_000388.4	NP_000379.3:p.(Thr972Met)	NC_000003.11:g.122003716C>T	VUS	1 lab	5c4da65dfc
19:41932674 B3GNT8 G>A	19	41932674	41932674	G	A	B3GNT8	c.10C>T	NM_001385648.2	NP_001372577.1:p.(Pro4Ser)	NC_000019.9:g.41932674G>A	VUS	1 lab	5c4da71329
7:157174926 DNAJB6 A>T	7	157174926	157174926	A	T	DNAJB6	c.347-14A>T	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157174926A>T	(Likely) benign	1 lab	5c4e4e42ea
4:6296822 WFS1 A>G	4	6296822	6296822	A	G	WFS1	c.767A>G	NM_006005.3	NP_005996.2:p.(Lys256Arg)	NC_000004.11:g.6296822A>G	VUS	1 lab	5c50e81369
11:2182166 INS C>T	11	2182166	2182166	C	T	INS	c.36G>A	NM_000207.3	NP_000198.1:p.(Ala12=)	NC_000011.9:g.2182166C>T	(Likely) benign	1 lab	5c513d940c
14:105238773 AKT1 C>T	14	105238773	105238773	C	T	AKT1	c.1189G>A	NM_001382430.1	NP_001369359.1:p.(Glu397Lys)	NC_000014.8:g.105238773C>T	(Likely) benign	1 lab	5c51a4f5f9
1:197112805 ASPM G>A	1	197112805	197112805	G	A	ASPM	c.577C>T	NM_018136.5	NP_060606.3:p.(Gln193Ter)	NC_000001.10:g.197112805G>A	(Likely) pathogenic	1 lab	5c528bbe3e
7:70255714 AUTS2 A>G	7	70255714	70255714	A	G	AUTS2	c.3512A>G	NM_015570.4	NP_056385.1:p.(His1171Arg)	NC_000007.13:g.70255714A>G	VUS	1 lab	5c5633826f
11:70332111 SHANK2 A>G	11	70332111	70332111	A	G	SHANK2	c.4287T>C	NM_012309.5	NP_036441.2:p.(Ala1429=)	NC_000011.9:g.70332111A>G	(Likely) benign	1 lab	5c573b2bc8
6:152770672 SYNE1 A>G	6	152770672	152770672	A	G	SYNE1	c.3500T>C	NM_182961.4	NP_892006.3:p.(Val1167Ala)	NC_000006.11:g.152770672A>G	(Likely) benign	1 lab	5c58c52810
1:152276803 FLG T>G	1	152276803	152276803	T	G	FLG	c.10559A>C	NM_002016.2	NP_002007.1:p.(Gln3520Pro)	NC_000001.10:g.152276803T>G	(Likely) benign	1 lab	5c59247415
4:6302472 WFS1 C>T	4	6302472	6302472	C	T	WFS1	c.950C>T	NM_006005.3	NP_005996.2:p.(Thr317Ile)	NC_000004.11:g.6302472C>T	VUS	1 lab	5c5a714080
9:6556218 GLDC C>T	9	6556218	6556218	C	T	GLDC	c.2137G>A	NM_000170.3	NP_000161.2:p.(Val713Met)	NC_000009.11:g.6556218C>T	VUS	1 lab	5c5aae9344
9:35806139 NPR2 C>T	9	35806139	35806139	C	T	NPR2	c.2281C>T	NM_003995.4	NP_003986.2:p.(Leu761=)	NC_000009.11:g.35806139C>T	(Likely) benign	1 lab	5c5e5f8781
16:72829928 ZFHX3 C>T	16	72829928	72829928	C	T	ZFHX3	c.6653G>A	NM_006885.4	NP_008816.3:p.(Ser2218Asn)	NC_000016.9:g.72829928C>T	VUS	1 lab	5c5e926c35
4:1932347 NSD2 C>T	4	1932347	1932347	C	T	NSD2	c.1411-6C>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1932347C>T	(Likely) benign	1 lab	5c5f70de58
1:43392652 SLC2A1 G>A	1	43392652	43392652	G	A	SLC2A1	c.*60C>T	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43392652G>A	(Likely) benign	1 lab	5c5fd7143d
1:43218030 P3H1 G>A	1	43218030	43218030	G	A	P3H1	c.1484C>T	NM_022356.4	NP_071751.3:p.(Thr495Ile)	NC_000001.10:g.43218030G>A	(Likely) benign	1 lab	5c60bbcb74
18:31250637 ASXL3 G>T	18	31250637	31250637	G	T	ASXL3	c.478G>T	NM_030632.3	NP_085135.1:p.(Ala160Ser)	NC_000018.9:g.31250637G>T	VUS	1 lab	5c60fa2712
10:28822924 WAC C>A	10	28822924	28822924	C	A	WAC	c.42-3C>A	NM_016628.5	NP_057712.2:p.?	NC_000010.10:g.28822924C>A	(Likely) benign	1 lab	5c62fe51a9
12:20832998 PDE3A C>T	12	20832998	20832998	C	T	PDE3A	c.3219C>T	NM_000921.5	NP_000912.3:p.(Cys1073=)	NC_000012.11:g.20832998C>T	(Likely) benign	1 lab	5c67336e83
7:128488880 FLNC C>T	7	128488880	128488880	C	T	FLNC	c.4771C>T	NM_001458.5	NP_001449.3:p.(Arg1591Trp)	NC_000007.13:g.128488880C>T	VUS	1 lab	5c68efd2bd
13:32783160 FRY G>T	13	32783160	32783160	G	T	FRY	c.4189G>T	NM_023037.3	NP_075463.2:p.(Ala1397Ser)	NC_000013.10:g.32783160G>T	(Likely) benign	1 lab	5c69f47a0e
12:96181085 NTN4 G>A	12	96181085	96181085	G	A	NTN4	c.217C>T	NM_021229.4	NP_067052.2:p.(Arg73Trp)	NC_000012.11:g.96181085G>A	(Likely) benign	1 lab	5c6a8a3d5b
9:3898825 GLIS3 C>T	9	3898825	3898825	C	T	GLIS3	c.1994G>A	NM_001042413.2	NP_001035878.1:p.(Ser665Asn)	NC_000009.11:g.3898825C>T	VUS	1 lab	5c6ad9513b
2:27587723 EIF2B4 C>T	2	27587723	27587723	C	T	EIF2B4	c.1234G>A	NM_001034116.2	NP_001029288.1:p.(Gly412Arg)	NC_000002.11:g.27587723C>T	VUS	1 lab	5c6ada3895
19:58370710 ZNF587 C>G	19	58370710	58370710	C	G	ZNF587	c.930C>G	NM_032828.4	NP_116217.1:p.(Ser310Arg)	NC_000019.9:g.58370710C>G	(Likely) benign	1 lab	5c6b45d28c
16:2816441 SRRM2 G>A	16	2816441	2816441	G	A	SRRM2	c.5912G>A	NM_016333.4	NP_057417.3:p.(Arg1971Gln)	NC_000016.9:g.2816441G>A	(Likely) benign	1 lab	5c6ba00f35
13:32912690 BRCA2 C>T	13	32912690	32912690	C	T	BRCA2	c.4198C>T	NM_000059.3	NP_000050.2:p.(His1400Tyr)	NC_000013.10:g.32912690C>T	VUS	1 lab	35e8506e3b
2:3392017 TRAPPC12 C>T	2	3392017	3392017	C	T	TRAPPC12	c.623C>T	NM_016030.6	NP_057114.5:p.(Thr208Met)	NC_000002.11:g.3392017C>T	VUS	1 lab	5c6c2fb9fc
3:153839867 ARHGEF26 T>G	3	153839867	153839867	T	G	ARHGEF26	c.86T>G	NM_015595.4	NP_056410.3:p.(Val29Gly)	NC_000003.11:g.153839867T>G	(Likely) benign	1 lab	5c6d675504
7:47874839 PKD1L1 G>A	7	47874839	47874839	G	A	PKD1L1	c.5946C>T	NM_138295.5	NP_612152.1:p.(Pro1982=)	NC_000007.13:g.47874839G>A	(Likely) benign	1 lab	5c71437af0
16:87380814 FBXO31 T>C	16	87380814	87380814	T	C	FBXO31	c.455A>G	NM_024735.5	NP_079011.3:p.(Asp152Gly)	NC_000016.9:g.87380814T>C	VUS	1 lab	5c75ba03f0
19:38993347 RYR1 C>G	19	38993347	38993347	C	G	RYR1	c.7815C>G	NM_000540.3	NP_000531.2:p.(Asp2605Glu)	NC_000019.9:g.38993347C>G	VUS	1 lab	5c75c96b9f
11:65855947 PACS1 A>G	11	65855947	65855947	A	G	PACS1	c.356+17634A>G	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65855947A>G	(Likely) benign	1 lab	5c77ef5105
1:179013058 FAM20B G>A	1	179013058	179013058	G	A	FAM20B	c.76G>A	NM_014864.4	NP_055679.1:p.(Asp26Asn)	NC_000001.10:g.179013058G>A	VUS	1 lab	5c7b6624f2
19:3492273 DOHH CA>C	19	3492273	3492274	CA	C	DOHH	c.575del	NM_001145165.2	NP_001138637.1:p.(Leu192ArgfsTer136)	NC_000019.9:g.3492274del	VUS	1 lab	5c7c7ef169
20:44575895 PCIF1 T>A	20	44575895	44575895	T	A	PCIF1	c.1708-7T>A	NM_022104.4	NP_071387.1:p.?	NC_000020.10:g.44575895T>A	VUS	1 lab	5c7cf9779c
2:97792874 ANKRD36 A>G	2	97792874	97792874	A	G	ANKRD36	c.799+3A>G	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97792874A>G	(Likely) benign	1 lab	5c7d0da4d8
12:113333629 RPH3A G>A	12	113333629	113333629	G	A	RPH3A	c.1905G>A	NM_001143854.2	NP_001137326.1:p.(Leu635=)	NC_000012.11:g.113333629G>A	(Likely) benign	1 lab	5c7e4b4683
12:52865844 KRT6C C>CCATTTCTCCTGTTTAA	12	52865844	52865846	C	CCATTTCTCCTGTTTAA	KRT6C	c.755+5_755+6insTTAAACAGGAGAAATG	NM_173086.5	NP_775109.2:p.?	NC_000012.11:g.52865845_52865846insATTTCTCCTGTTTAAC	(Likely) benign	1 lab	5c7f4ab46d
2:233407568 CHRNG T>TCCTG	2	233407568	233407586	T	TCCTG	CHRNG	c.605-9_605-6dup	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233407583_233407586dup	VUS	1 lab	5c7f7a7d05
11:71155071 DHCR7 C>T	11	71155071	71155071	C	T	DHCR7	c.289G>A	NM_001360.3	NP_001351.2:p.(Ala97Thr)	NC_000011.9:g.71155071C>T	VUS	1 lab	5c80d17999
3:49692952 BSN A>G	3	49692952	49692952	A	G	BSN	c.5963A>G	NM_003458.4	NP_003449.2:p.(Asn1988Ser)	NC_000003.11:g.49692952A>G	VUS	1 lab	5c80f164a6
2:191155212 HIBCH C>G	2	191155212	191155212	C	G	HIBCH	c.305-1G>C	NM_014362.4	NP_055177.2:p.?	NC_000002.11:g.191155212C>G	VUS	1 lab	5c81194338
19:4007768 PIAS4 G>GAGATGCGCCAGCAGTATCCGC	19	4007768	4007771	G	GAGATGCGCCAGCAGTATCCGC	PIAS4	c.12_13insATGCGCCAGCAGTATCCGCAG	NM_015897.4	NP_056981.2:p.(Glu4_Leu5insMetArgGlnGlnTyrProGln)	NC_000019.9:g.4007770_4007771insATGCGCCAGCAGTATCCGCAG	(Likely) benign	1 lab	5c83bd9592
19:18286007 IFI30 C>T	19	18286007	18286007	C	T	IFI30	c.290C>T	NM_006332.5	NP_006323.2:p.(Thr97Met)	NC_000019.9:g.18286007C>T	VUS	1 lab	5c83fdf4f8
12:123339628 HIP1R G>A	12	123339628	123339628	G	A	HIP1R	c.805G>A	NM_003959.3	NP_003950.1:p.(Asp269Asn)	NC_000012.11:g.123339628G>A	(Likely) benign	1 lab	5c8404c69f
9:130889939 PTGES2 A>G	9	130889939	130889939	A	G	PTGES2	c.58T>C	NM_025072.7	NP_079348.1:p.(Trp20Arg)	NC_000009.11:g.130889939A>G	VUS	1 lab	5c84646568
X:153588892 FLNA C>T	X	153588892	153588892	C	T	FLNA	c.3271G>A	NM_001110556.2	NP_001104026.1:p.(Asp1091Asn)	NC_000023.10:g.153588892C>T	(Likely) benign	1 lab	5c87b37d5f
6:111689034 REV3L A>G	6	111689034	111689034	A	G	REV3L	c.5957T>C	NM_001372078.1	NP_001359007.1:p.(Met1986Thr)	NC_000006.11:g.111689034A>G	(Likely) benign	1 lab	5c8917f99d
1:19199370 ALDH4A1 A>C	1	19199370	19199370	A	C	ALDH4A1	c.1661T>G	NM_003748.4	NP_003739.2:p.(Leu554Arg)	NC_000001.10:g.19199370A>C	VUS	1 lab	5c8981a9ef
2:63816526 MDH1 A>G	2	63816526	63816526	A	G	MDH1	c.3+346A>G	NM_005917.4	NP_005908.1:p.?	NC_000002.11:g.63816526A>G	(Likely) benign	1 lab	5c89f6fb44
22:41548026 EP300 G>A	22	41548026	41548026	G	A	EP300	c.2997+10G>A	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41548026G>A	(Likely) benign	1 lab	5c8a35aadc
12:49374354 WNT1 G>A	12	49374354	49374354	G	A	WNT1	c.506G>A	NM_005430.4	NP_005421.1:p.(Gly169Asp)	NC_000012.11:g.49374354G>A	(Likely) pathogenic	1 lab	5c8b379124
3:12422948 PPARG T>C	3	12422948	12422948	T	C	PPARG	c.348T>C	NM_138711.6	NP_619725.3:p.(Ala116=)	NC_000003.11:g.12422948T>C	(Likely) benign	1 lab	5c8be9059d
6:87971032 ZNF292 G>A	6	87971032	87971032	G	A	ZNF292	c.7685G>A	NM_015021.3	NP_055836.1:p.(Arg2562His)	NC_000006.11:g.87971032G>A	(Likely) benign	1 lab	5c8c009490
17:61831789 CCDC47 G>A	17	61831789	61831789	G	A	CCDC47	c.1034+4C>T	NM_020198.3	NP_064583.2:p.?	NC_000017.10:g.61831789G>A	VUS	1 lab	5c8c3832c5
6:26056320 H1-2 A>C	6	26056320	26056320	A	C	H1-2	c.337T>G	NM_005319.4	NP_005310.1:p.(Ser113Ala)	NC_000006.11:g.26056320A>C	(Likely) benign	1 lab	5c8c701175
X:114427184 RBMXL3 G>T	X	114427184	114427184	G	T	RBMXL3	c.3180G>T	NM_001145346.2	NP_001138818.1:p.(Arg1060Ser)	NC_000023.10:g.114427184G>T	(Likely) benign	1 lab	5c8cf01a0e
X:76939019 ATRX T>C	X	76939019	76939019	T	C	ATRX	c.1729A>G	NM_000489.6	NP_000480.3:p.(Lys577Glu)	NC_000023.10:g.76939019T>C	VUS	1 lab	5c8f10bdce
12:102158438 GNPTAB T>A	12	102158438	102158438	T	A	GNPTAB	c.2257A>T	NM_024312.5	NP_077288.2:p.(Ile753Leu)	NC_000012.11:g.102158438T>A	(Likely) benign	1 lab	5c90579738
3:93699272 ARL13B T>G	3	93699272	93699272	T	G	ARL13B	c.5T>G	NM_001174150.2	NP_001167621.1:p.(Phe2Cys)	NC_000003.11:g.93699272T>G	VUS	1 lab	5c90ceec09
6:87966574 ZNF292 C>T	6	87966574	87966574	C	T	ZNF292	c.3227C>T	NM_015021.3	NP_055836.1:p.(Pro1076Leu)	NC_000006.11:g.87966574C>T	(Likely) benign	1 lab	5c919eee35
19:15367774 BRD4 C>T	19	15367774	15367774	C	T	BRD4	c.1551+1G>A	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15367774C>T	(Likely) pathogenic	1 lab	5c9271b3bc
11:2182078 INS CT>C	11	2182078	2182079	CT	C	INS	c.123del	NM_000207.3	NP_000198.1:p.(Val42CysfsTer89)	NC_000011.9:g.2182079del	(Likely) pathogenic	1 lab	5c929c2783
15:89414674 ACAN G>A	15	89414674	89414674	G	A	ACAN	c.7122G>A	NM_001369268.1	NP_001356197.1:p.(Pro2374=)	NC_000015.9:g.89414674G>A	VUS	1 lab	5c930d6111
22:50656840 TUBGCP6 GGGCAGAA>G	22	50656840	50656853	GGGCAGAA	G	TUBGCP6	c.4955-16_4955-10del	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50656847_50656853del	(Likely) benign	1 lab	5c93de824b
4:125600067 ANKRD50 A>C	4	125600067	125600067	A	C	ANKRD50	c.513-7T>G	NM_020337.3	NP_065070.1:p.?	NC_000004.11:g.125600067A>C	(Likely) benign	1 lab	5c98e496a2
11:69063819 MYEOV ACCT>A	11	69063819	69063838	ACCT	A	MYEOV	c.919_921del	NM_001293291.2	NP_001280220.1:p.(Leu307del)	NC_000011.9:g.69063836_69063838del	VUS	1 lab	5c9938146e
19:6495303 TUBB4A T>C	19	6495303	6495303	T	C	TUBB4A	c.1207A>G	NM_006087.4	NP_006078.2:p.(Met403Val)	NC_000019.9:g.6495303T>C	VUS	1 lab	5c9999b1ae
9:35794065 NPR2 C>T	9	35794065	35794065	C	T	NPR2	c.838C>T	NM_003995.4	NP_003986.2:p.(Arg280Trp)	NC_000009.11:g.35794065C>T	VUS	1 lab	5cbe5f5bdd
17:58733963 PPM1D G>A	17	58733963	58733963	G	A	PPM1D	c.1021G>A	NM_003620.4	NP_003611.1:p.(Glu341Lys)	NC_000017.10:g.58733963G>A	(Likely) benign	1 lab	5c99bef915
19:50910288 POLD1 G>A	19	50910288	50910288	G	A	POLD1	c.1543G>A	NM_002691.4	NP_002682.2:p.(Asp515Asn)	NC_000019.9:g.50910288G>A	VUS	1 lab	5c9b557919
19:50100121 PRR12 A>G	19	50100121	50100121	A	G	PRR12	c.2529A>G	NM_020719.3	NP_065770.1:p.(Pro843=)	NC_000019.9:g.50100121A>G	(Likely) benign	1 lab	5c9b9e74ef
2:28847958 PLB1 C>T	2	28847958	28847958	C	T	PLB1	c.3562C>T	NM_153021.5	NP_694566.4:p.(Arg1188Ter)	NC_000002.11:g.28847958C>T	VUS	1 lab	5c9d4a767a
14:103452885 CDC42BPB A>T	14	103452885	103452885	A	T	CDC42BPB	c.629T>A	NM_006035.4	NP_006026.3:p.(Val210Glu)	NC_000014.8:g.103452885A>T	VUS	1 lab	5c9e4a856f
17:4804902 CHRNE G>A	17	4804902	4804902	G	A	CHRNE	c.519C>T	NM_000080.4	NP_000071.1:p.(Ala173=)	NC_000017.10:g.4804902G>A	(Likely) benign	1 lab	5c9e513d2a
2:179393257 TTN G>T	2	179393257	179393257	G	T	TTN	c.107221C>A	NM_001267550.2	NP_001254479.2:p.(Pro35741Thr)	NC_000002.11:g.179393257G>T	VUS	1 lab	5c9fa8b643
14:93712290 BTBD7 C>A	14	93712290	93712290	C	A	BTBD7	c.2464G>T	NM_001002860.4	NP_001002860.2:p.(Ala822Ser)	NC_000014.8:g.93712290C>A	(Likely) benign	1 lab	5c9ffdf994
17:76425340 DNAH17 C>T	17	76425340	76425340	C	T	DNAH17	c.12267G>A	NM_173628.4	NP_775899.3:p.(Met4089Ile)	NC_000017.10:g.76425340C>T	VUS	1 lab	5ca002434b
16:88926367 TRAPPC2L C>CGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT	16	88926367	88926402	C	CGCATCCAGTCCAGGTGGGCCCTACTTTCTGTGTCT	TRAPPC2L	c.362_374+22dup	NM_001318525.2	NP_001305454.1:p.?	NC_000016.9:g.88926368_88926402dup	(Likely) benign	1 lab	5ca0a84376
4:2831664 SH3BP2 C>A	4	2831664	2831664	C	A	SH3BP2	c.1031C>A	NM_001122681.2	NP_001116153.1:p.(Pro344Gln)	NC_000004.11:g.2831664C>A	(Likely) benign	1 lab	5ca0c3df2c
17:41244004 BRCA1 G>A	17	41244004	41244004	G	A	BRCA1	c.3544C>T	NM_007294.4	NP_009225.1:p.(Gln1182Ter)	NC_000017.10:g.41244004G>A	(Likely) pathogenic	1 lab	5ca0f86138
4:1808588 FGFR3 C>T	4	1808588	1808588	C	T	FGFR3	c.2201C>T	NM_000142.5	NP_000133.1:p.(Ala734Val)	NC_000004.11:g.1808588C>T	(Likely) benign	1 lab	5ca14789d9
5:127419759 SLC12A2 C>T	5	127419759	127419759	C	T	SLC12A2	c.113C>T	NM_001046.3	NP_001037.1:p.(Ala38Val)	NC_000005.9:g.127419759C>T	(Likely) benign	1 lab	5ca21842c4
3:121980798 CASR G>A	3	121980798	121980798	G	A	CASR	c.916G>A	NM_000388.4	NP_000379.3:p.(Ala306Thr)	NC_000003.11:g.121980798G>A	VUS	1 lab	5ca31a10ee
X:118603648 SLC25A5 A>G	X	118603648	118603648	A	G	SLC25A5	c.136A>G	NM_001152.5	NP_001143.2:p.(Thr46Ala)	NC_000023.10:g.118603648A>G	VUS	1 lab	5ca5c8778f
11:70319439 SHANK2 G>A	11	70319439	70319439	G	A	SHANK2	c.5085C>T	NM_012309.5	NP_036441.2:p.(Pro1695=)	NC_000011.9:g.70319439G>A	VUS	1 lab	5ca65e9bfe
1:45973880 MMACHC C>G	1	45973880	45973880	C	G	MMACHC	c.277-4C>G	NM_015506.3	NP_056321.2:p.?	NC_000001.10:g.45973880C>G	(Likely) benign	1 lab	5ca8cb65dc
16:1793389 MAPK8IP3 G>A	16	1793389	1793389	G	A	MAPK8IP3	c.659G>A	NM_001318852.2	NP_001305781.1:p.(Arg220His)	NC_000016.9:g.1793389G>A	VUS	1 lab	5ca94b644d
X:2864132 ARSL C>T	X	2864132	2864132	C	T	ARSL	c.898G>A	NM_000047.3	NP_000038.2:p.(Val300Ile)	NC_000023.10:g.2864132C>T	(Likely) benign	1 lab	5ca963130f
8:101961078 YWHAZ C>A	8	101961078	101961078	C	A	YWHAZ	c.40G>T	NM_145690.3	NP_663723.1:p.(Glu14Ter)	NC_000008.10:g.101961078C>A	VUS	1 lab	5caafd59cd
7:70255576 AUTS2 G>GCCACCACCA	7	70255576	70255602	G	GCCACCACCA	AUTS2	c.3392_3400dup	NM_015570.4	NP_056385.1:p.(His1131_His1133dup)	NC_000007.13:g.70255594_70255602dup	VUS	1 lab	5cab258431
2:70441568 TIA1 G>C	2	70441568	70441568	G	C	TIA1	c.947C>G	NM_022173.4	NP_071505.2:p.(Ala316Gly)	NC_000002.11:g.70441568G>C	(Likely) benign	1 lab	5cacc033b5
X:54984733 PFKFB1 C>T	X	54984733	54984733	C	T	PFKFB1	c.516+6G>A	NM_002625.4	NP_002616.2:p.?	NC_000023.10:g.54984733C>T	(Likely) benign	1 lab	5cad183e80
2:215645852 BARD1 A>G	2	215645852	215645852	A	G	BARD1	c.746T>C	NM_000465.4	NP_000456.2:p.(Ile249Thr)	NC_000002.11:g.215645852A>G	VUS	1 lab	5cad2c7b5b
16:2167616 PKD1 T>C	16	2167616	2167616	T	C	PKD1	c.1259A>G	NM_001009944.3	NP_001009944.3:p.(Tyr420Cys)	NC_000016.9:g.2167616T>C	(Likely) pathogenic	1 lab	5cad318055
11:46920946 LRP4 T>C	11	46920946	46920946	T	C	LRP4	c.539A>G	NM_002334.4	NP_002325.2:p.(Glu180Gly)	NC_000011.9:g.46920946T>C	VUS	1 lab	5cad3db0ef
2:179456997 TTN A>G	2	179456997	179456997	A	G	TTN	c.32814T>C	NM_133432.3	NP_597676.3:p.(Pro10938=)	NC_000002.11:g.179456997A>G	(Likely) benign	1 lab	220caf97d8
14:75553862 NEK9 G>A	14	75553862	75553862	G	A	NEK9	c.2676C>T	NM_033116.6	NP_149107.4:p.(Cys892=)	NC_000014.8:g.75553862G>A	VUS	1 lab	5cae16cda9
22:17447150 GAB4 G>A	22	17447150	17447150	G	A	GAB4	c.1128C>T	NM_001037814.1	NP_001032903.1:p.(Gly376=)	NC_000022.10:g.17447150G>A	VUS	1 lab	5caece1fc5
14:76525674 IFT43 C>T	14	76525674	76525674	C	T	IFT43	c.253C>T	NM_001102564.3	NP_001096034.1:p.(Arg85Cys)	NC_000014.8:g.76525674C>T	(Likely) benign	1 lab	5caf5d8560
9:140128917 SLC34A3 G>A	9	140128917	140128917	G	A	SLC34A3	c.1143G>A	NM_001177316.2	NP_001170787.2:p.(Ala381=)	NC_000009.11:g.140128917G>A	VUS	1 lab	5cb17e57e4
X:102192572 RAB40AL T>C	X	102192572	102192572	T	C	RAB40AL	c.326T>C	NM_001031834.1	NP_001027004.1:p.(Ile109Thr)	NC_000023.10:g.102192572T>C	VUS	1 lab	5cb415a5a2
6:139694603 CITED2 T>A	6	139694603	139694603	T	A	CITED2	c.479A>T	NM_006079.5	NP_006070.2:p.(His160Leu)	NC_000006.11:g.139694603T>A	(Likely) benign	1 lab	5cb444aa96
1:247588235 NLRP3 C>A	1	247588235	247588235	C	A	NLRP3	c.1484C>A	NM_001243133.2	NP_001230062.1:p.(Ala495Glu)	NC_000001.10:g.247588235C>A	(Likely) benign	1 lab	5cb4df6ebb
4:997185 IDUA T>C	4	997185	997185	T	C	IDUA	c.1577T>C	NM_000203.5	NP_000194.2:p.(Leu526Pro)	NC_000004.11:g.997185T>C	(Likely) pathogenic	1 lab	5cb781d2e8
17:71189365 COG1 G>A	17	71189365	71189365	G	A	COG1	c.157G>A	NM_018714.3	NP_061184.1:p.(Gly53Ser)	NC_000017.10:g.71189365G>A	VUS	1 lab	5cb8d16285
16:89883007 FANCA A>T	16	89883007	89883007	A	T	FANCA	c.17T>A	NM_000135.4	NP_000126.2:p.(Val6Asp)	NC_000016.9:g.89883007A>T	(Likely) benign	1 lab	5cbb9753bc
X:129155039 BCORL1 A>G	X	129155039	129155039	A	G	BCORL1	c.3521A>G	NM_001379451.1	NP_001366380.1:p.(Asn1174Ser)	NC_000023.10:g.129155039A>G	(Likely) benign	1 lab	5cbce266b9
X:147662792 AFF2 CATAT>C	X	147662792	147662797	CATAT	C	AFF2	c.48-70726_48-70723del	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.147662794_147662797del	(Likely) benign	1 lab	5cbd06ff10
X:69424238 DGAT2L6 T>G	X	69424238	69424238	T	G	DGAT2L6	c.731T>G	NM_198512.3	NP_940914.1:p.(Leu244Trp)	NC_000023.10:g.69424238T>G	(Likely) benign	1 lab	5cbd20d6ea
10:101294793 NKX2-3 CGGA>C	10	101294793	101294800	CGGA	C	NKX2-3	c.415_417del	NM_145285.3	NP_660328.2:p.(Glu139del)	NC_000010.10:g.101294798_101294800del	VUS	1 lab	5cbd7cf582
1:45120296 TMEM53 G>A	1	45120296	45120296	G	A	TMEM53	c.769C>T	NM_024587.4	NP_078863.2:p.(Arg257Cys)	NC_000001.10:g.45120296G>A	VUS	1 lab	5cbde0305b
14:24724656 TGM1 T>C	14	24724656	24724656	T	C	TGM1	c.1559A>G	NM_000359.3	NP_000350.1:p.(Glu520Gly)	NC_000014.8:g.24724656T>C	(Likely) benign	1 lab	2103259c08
1:36883828 OSCP1 C>T	1	36883828	36883828	C	T	OSCP1	c.1052G>A	NM_145047.5	NP_659484.4:p.(Arg351Gln)	NC_000001.10:g.36883828C>T	(Likely) benign	1 lab	5cbe1ea8b4
9:6605276 GLDC T>C	9	6605276	6605276	T	C	GLDC	c.716A>G	NM_000170.3	NP_000161.2:p.(Tyr239Cys)	NC_000009.11:g.6605276T>C	VUS	1 lab	5cbf501366
2:25523013 DNMT3A G>C	2	25523013	25523013	G	C	DNMT3A	c.172C>G	NM_022552.5	NP_072046.2:p.(Pro58Ala)	NC_000002.11:g.25523013G>C	VUS	1 lab	5cc0bf05ca
13:35517012 NBEA C>T	13	35517012	35517012	C	T	NBEA	c.55C>T	NM_001385012.1	NP_001371941.1:p.(Leu19Phe)	NC_000013.10:g.35517012C>T	(Likely) benign	1 lab	5cc1f58fe6
16:1567109 IFT140 C>T	16	1567109	1567109	C	T	IFT140	c.4182+1108G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1567109C>T	(Likely) benign	1 lab	5cc20f925e
14:57088394 TMEM260 C>A	14	57088394	57088394	C	A	TMEM260	c.1372C>A	NM_017799.4	NP_060269.3:p.(Pro458Thr)	NC_000014.8:g.57088394C>A	VUS	1 lab	5cc2754d91
3:55043415 CACNA2D3 G>T	3	55043415	55043415	G	T	CACNA2D3	c.2820G>T	NM_018398.3	NP_060868.2:p.(Leu940Phe)	NC_000003.11:g.55043415G>T	VUS	1 lab	5cc670324c
11:6423341 APBB1 G>A	11	6423341	6423341	G	A	APBB1	c.1353C>T	NM_001164.5	NP_001155.1:p.(Arg451=)	NC_000011.9:g.6423341G>A	(Likely) benign	1 lab	5cc71b8250
7:44184793 GCK C>G	7	44184793	44184793	C	G	GCK	c.1340G>C	NM_000162.5	NP_000153.1:p.(Arg447Pro)	NC_000007.13:g.44184793C>G	(Likely) pathogenic	1 lab	5cc72aa8ea
8:144898990 PUF60 CTG>C	8	144898990	144898994	CTG	C	PUF60	c.1381-3_1381-2del	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144898993_144898994del	VUS	1 lab	5cc74d5cea
7:141794189 MGAM C>T	7	141794189	141794189	C	T	MGAM	c.7198C>T	NM_001365693.1	NP_001352622.1:p.(Arg2400Ter)	NC_000007.13:g.141794189C>T	(Likely) benign	1 lab	5cc81e47b7
2:197106829 HECW2 C>G	2	197106829	197106829	C	G	HECW2	c.3629G>C	NM_001348768.2	NP_001335697.1:p.(Gly1210Ala)	NC_000002.11:g.197106829C>G	VUS	1 lab	5cc87b8e15
11:2797262 KCNQ1 C>A	11	2797262	2797262	C	A	KCNQ1	c.1663C>A	NM_000218.3	NP_000209.2:p.(Arg555Ser)	NC_000011.9:g.2797262C>A	(Likely) pathogenic	1 lab	5cc8a9d762
20:30432832 FOXS1 C>T	20	30432832	30432832	C	T	FOXS1	c.514G>A	NM_004118.4	NP_004109.1:p.(Ala172Thr)	NC_000020.10:g.30432832C>T	VUS	1 lab	5cc9c6b4df
2:121746485 GLI2 C>T	2	121746485	121746485	C	T	GLI2	c.2944C>T	NM_001374353.1	NP_001361282.1:p.(Pro982Ser)	NC_000002.11:g.121746485C>T	VUS	1 lab	5cca5f239c
7:69983392 AUTS2 G>A	7	69983392	69983392	G	A	AUTS2	c.690+82625G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69983392G>A	(Likely) benign	1 lab	5ccb1fc547
20:61443648 OGFR C>G	20	61443648	61443648	C	G	OGFR	c.681C>G	NM_007346.4	NP_031372.2:p.(His227Gln)	NC_000020.10:g.61443648C>G	VUS	1 lab	5ccb469c68
7:99490052 TRIM4 C>T	7	99490052	99490052	C	T	TRIM4	c.1159G>A	NM_033091.3	NP_149082.1:p.(Asp387Asn)	NC_000007.13:g.99490052C>T	VUS	1 lab	5ccb5bd677
19:42753233 ERF CGCTGGG>C	19	42753233	42753247	CGCTGGG	C	ERF	c.1025_1030del	NM_006494.4	NP_006485.2:p.(Pro342_Gln343del)	NC_000019.9:g.42753242_42753247del	VUS	1 lab	5cce142a2f
5:140590368 PCDHB12 T>C	5	140590368	140590368	T	C	PCDHB12	c.1889T>C	NM_018932.4	NP_061755.1:p.(Leu630Pro)	NC_000005.9:g.140590368T>C	VUS	1 lab	5cceca2269
2:241702713 KIF1A C>A	2	241702713	241702713	C	A	KIF1A	c.1819G>T	NM_001244008.2	NP_001230937.1:p.(Glu607Ter)	NC_000002.11:g.241702713C>A	VUS	1 lab	5ccefb9d23
14:21359984 RNASE3 C>G	14	21359984	21359984	C	G	RNASE3	c.139C>G	NM_002935.3	NP_002926.2:p.(Pro47Ala)	NC_000014.8:g.21359984C>G	(Likely) benign	1 lab	5cd20f1766
11:67810127 TCIRG1 G>A	11	67810127	67810127	G	A	TCIRG1	c.214G>A	NM_006019.4	NP_006010.2:p.(Val72Met)	NC_000011.9:g.67810127G>A	VUS	1 lab	5cd2ddbd37
17:38802106 SMARCE1 T>TA	17	38802106	38802116	T	TA	SMARCE1	c.-45-8dup	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38802116dup	(Likely) benign	1 lab	5cd349eb1a
14:21899491 CHD8 C>G	14	21899491	21899491	C	G	CHD8	c.312G>C	NM_001170629.2	NP_001164100.1:p.(Gln104His)	NC_000014.8:g.21899491C>G	(Likely) benign	1 lab	5cd4203a99
5:32783002 NPR3 A>T	5	32783002	32783002	A	T	NPR3	c.1294A>T	NM_001204375.2	NP_001191304.1:p.(Ile432Phe)	NC_000005.9:g.32783002A>T	(Likely) pathogenic	1 lab	5cd765d9da
20:44578687 ZNF335 C>T	20	44578687	44578687	C	T	ZNF335	c.3509G>A	NM_022095.4	NP_071378.1:p.(Gly1170Glu)	NC_000020.10:g.44578687C>T	(Likely) benign	1 lab	5cd83fff9a
19:7141797 INSR G>A	19	7141797	7141797	G	A	INSR	c.2573C>T	NM_000208.4	NP_000199.2:p.(Thr858Met)	NC_000019.9:g.7141797G>A	VUS	1 lab	5cd91692b5
7:138874163 IFT56 CAG>C	7	138874163	138874167	CAG	C	IFT56	c.1653_1654del	NM_024926.4	NP_079202.2:p.(Arg551SerfsTer6)	NC_000007.13:g.138874166_138874167del	VUS	1 lab	5cdc9a1da1
1:8426013 RERE A>C	1	8426013	8426013	A	C	RERE	c.1306T>G	NM_001042681.2	NP_001036146.1:p.(Tyr436Asp)	NC_000001.10:g.8426013A>C	VUS	1 lab	5cdcb45720
4:88583243 DMP1 G>A	4	88583243	88583243	G	A	DMP1	c.313G>A	NM_004407.4	NP_004398.1:p.(Asp105Asn)	NC_000004.11:g.88583243G>A	VUS	1 lab	5cdd4de380
1:145528280 ITGA10 C>T	1	145528280	145528280	C	T	ITGA10	c.301C>T	NM_003637.5	NP_003628.2:p.(His101Tyr)	NC_000001.10:g.145528280C>T	(Likely) benign	1 lab	5cdfbdefc5
X:99551818 PCDH19 G>A	X	99551818	99551818	G	A	PCDH19	c.2904C>T	NM_001184880.2	NP_001171809.1:p.(Asp968=)	NC_000023.10:g.99551818G>A	(Likely) benign	1 lab	220d4dd5e9
19:38945956 RYR1 G>C	19	38945956	38945956	G	C	RYR1	c.1522G>C	NM_000540.3	NP_000531.2:p.(Glu508Gln)	NC_000019.9:g.38945956G>C	VUS	1 lab	5ce0bcae9d
11:62459903 BSCL2 G>A	11	62459903	62459903	G	A	BSCL2	c.616C>T	NM_032667.6	NP_116056.3:p.(Arg206Cys)	NC_000011.9:g.62459903G>A	VUS	1 lab	210873418e
19:56373454 NLRP4 ACT>A	19	56373454	56373461	ACT	A	NLRP4	c.2121_2122del	NM_134444.5	NP_604393.2:p.(Arg708Ter)	NC_000019.9:g.56373460_56373461del	VUS	1 lab	5ce270393d
6:151738447 RMND1 C>T	6	151738447	151738447	C	T	RMND1	c.1167G>A	NM_017909.4	NP_060379.2:p.(Thr389=)	NC_000006.11:g.151738447C>T	(Likely) benign	1 lab	220e04cdd9
15:91490076 UNC45A G>T	15	91490076	91490076	G	T	UNC45A	c.1432G>T	NM_018671.5	NP_061141.2:p.(Gly478Cys)	NC_000015.9:g.91490076G>T	VUS	1 lab	5ce44f947f
5:39288817 C9 G>T	5	39288817	39288817	G	T	C9	c.1645+8C>A	NM_001737.5	NP_001728.1:p.?	NC_000005.9:g.39288817G>T	(Likely) benign	1 lab	5ce505549a
7:143826300 OR2A14 C>T	7	143826300	143826300	C	T	OR2A14	c.95C>T	NM_001001659.3	NP_001001659.1:p.(Ala32Val)	NC_000007.13:g.143826300C>T	(Likely) benign	1 lab	5ce5a9fd28
X:136649770 ZIC3 A>G	X	136649770	136649770	A	G	ZIC3	c.920A>G	NM_003413.4	NP_003404.1:p.(Lys307Arg)	NC_000023.10:g.136649770A>G	(Likely) benign	1 lab	5ce6416324
8:144941377 EPPK1 A>AC	8	144941377	144941383	A	AC	EPPK1	c.6044dup	NM_031308.4	NP_112598.3:p.(Val2016CysfsTer82)	NC_000008.10:g.144941383dup	VUS	1 lab	5ce86ec052
22:21350360 LZTR1 C>A	22	21350360	21350360	C	A	LZTR1	c.2178C>A	NM_006767.4	NP_006758.2:p.(Tyr726Ter)	NC_000022.10:g.21350360C>A	(Likely) pathogenic	1 lab	5ce8757eb9
1:40527409 CAP1 G>A	1	40527409	40527409	G	A	CAP1	c.219G>A	NM_006367.4	NP_006358.2:p.(Ala73=)	NC_000001.10:g.40527409G>A	(Likely) benign	1 lab	5ce899c4be
1:202702935 KDM5B A>G	1	202702935	202702935	A	G	KDM5B	c.3503T>C	NM_006618.5	NP_006609.3:p.(Leu1168Pro)	NC_000001.10:g.202702935A>G	VUS	1 lab	5ce947236d
14:104642928 KIF26A C>A	14	104642928	104642928	C	A	KIF26A	c.3803C>A	NM_015656.2	NP_056471.1:p.(Pro1268His)	NC_000014.8:g.104642928C>A	VUS	1 lab	21099184bf
5:140711206 PCDHGA1 G>C	5	140711206	140711206	G	C	PCDHGA1	c.955G>C	NM_018912.3	NP_061735.1:p.(Val319Leu)	NC_000005.9:g.140711206G>C	VUS	1 lab	5cec3dc2cb
16:3304553 MEFV T>G	16	3304553	3304553	T	G	MEFV	c.515A>C	NM_000243.2	NP_000234.1:p.(Gln172Pro)	NC_000016.9:g.3304553T>G	VUS	1 lab	2210b06fbd
4:6303943 WFS1 C>T	4	6303943	6303943	C	T	WFS1	c.2421C>T	NM_006005.3	NP_005996.2:p.(Ser807=)	NC_000004.11:g.6303943C>T	(Likely) benign	1 lab	5cee695e16
16:8866677 ABAT C>T	16	8866677	8866677	C	T	ABAT	c.857C>T	NM_020686.6	NP_065737.2:p.(Thr286Met)	NC_000016.9:g.8866677C>T	VUS	1 lab	5cee822a0c
2:48067315 FBXO11 C>A	2	48067315	48067315	C	A	FBXO11	c.233-407G>T	NM_001190274.2	NP_001177203.1:p.?	NC_000002.11:g.48067315C>A	(Likely) benign	1 lab	5ceefad760
X:153582855 FLNA C>T	X	153582855	153582855	C	T	FLNA	c.5314-4G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153582855C>T	VUS	1 lab	5cef2f950b
14:58958899 KIAA0586 T>C	14	58958899	58958899	T	C	KIAA0586	c.3896T>C	NM_001329943.3	NP_001316872.1:p.(Met1299Thr)	NC_000014.8:g.58958899T>C	(Likely) benign	1 lab	5cefc239d3
1:152325166 FLG2 G>C	1	152325166	152325166	G	C	FLG2	c.5096C>G	NM_001014342.3	NP_001014364.1:p.(Thr1699Arg)	NC_000001.10:g.152325166G>C	(Likely) benign	1 lab	5cefd54aa6
20:3388187 DNAAF9 C>CG	20	3388187	3388193	C	CG	DNAAF9	c.17dup	NM_001009984.3	NP_001009984.1:p.(Arg7AlafsTer52)	NC_000020.10:g.3388193dup	VUS	1 lab	5cf0e5be33
11:44146333 EXT2 T>A	11	44146333	44146333	T	A	EXT2	c.744-6T>A	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44146333T>A	(Likely) benign	1 lab	5cf2b98a31
17:36891486 CISD3 G>A	17	36891486	36891486	G	A	CISD3	c.*1778G>A	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36891486G>A	(Likely) benign	1 lab	5cf2be0a36
14:64691166 SYNE2 G>A	14	64691166	64691166	G	A	SYNE2	c.20383-13G>A	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64691166G>A	(Likely) benign	1 lab	22156860eb
12:49448498 KMT2D G>A	12	49448498	49448498	G	A	KMT2D	c.213C>T	NM_003482.4	NP_003473.3:p.(Cys71=)	NC_000012.11:g.49448498G>A	(Likely) benign	1 lab	5cf386102a
15:90319773 MESP2 G>GAGCCGCAGAGGC	15	90319773	90319791	G	GAGCCGCAGAGGC	MESP2	c.192_203dup	NM_001039958.2	NP_001035047.1:p.(Glu65_Ala68dup)	NC_000015.9:g.90319780_90319791dup	VUS	1 lab	5cf5270e47
17:40940821 WNK4 G>C	17	40940821	40940821	G	C	WNK4	c.2157+6G>C	NM_032387.5	NP_115763.2:p.?	NC_000017.10:g.40940821G>C	(Likely) benign	1 lab	221c15ff64
11:108117804 ATM AT>A	11	108117804	108117806	AT	A	ATM	c.1017del	NM_000051.4	NP_000042.3:p.(Ile339MetfsTer7)	NC_000011.9:g.108117806del	(Likely) pathogenic	1 lab	5cf6a2fee4
17:36061038 HNF1B A>T	17	36061038	36061038	A	T	HNF1B	c.1484T>A	NM_000458.4	NP_000449.1:p.(Met495Lys)	NC_000017.10:g.36061038A>T	VUS	1 lab	5cf6e9941b
2:227958916 COL4A4 G>A	2	227958916	227958916	G	A	COL4A4	c.1294C>T	NM_000092.5	NP_000083.3:p.(Pro432Ser)	NC_000002.11:g.227958916G>A	VUS	1 lab	5cf817a662
19:12816308 TNPO2 T>G	19	12816308	12816308	T	G	TNPO2	c.1861A>C	NM_001382241.1	NP_001369170.1:p.(Met621Leu)	NC_000019.9:g.12816308T>G	VUS	1 lab	5cfa4ffb53
8:145003722 PLEC G>T	8	145003722	145003722	G	T	PLEC	c.2941C>A	NM_201384.3	NP_958786.1:p.(Arg981Ser)	NC_000008.10:g.145003722G>T	VUS	1 lab	5cfbd82cde
19:47863289 DHX34 C>A	19	47863289	47863289	C	A	DHX34	c.1337C>A	NM_014681.6	NP_055496.2:p.(Ser446Ter)	NC_000019.9:g.47863289C>A	VUS	1 lab	5cfc6ee2f2
1:169510515 F5 G>A	1	169510515	169510515	G	A	F5	c.3813C>T	NM_000130.5	NP_000121.2:p.(Leu1271=)	NC_000001.10:g.169510515G>A	(Likely) benign	1 lab	5d00aa21e8
10:103541595 NPM3 A>T	10	103541595	103541595	A	T	NPM3	c.435T>A	NM_006993.3	NP_008924.1:p.(Asp145Glu)	NC_000010.10:g.103541595A>T	(Likely) benign	1 lab	5d02dde398
1:27878379 AHDC1 G>A	1	27878379	27878379	G	A	AHDC1	c.248C>T	NM_001371928.1	NP_001358857.1:p.(Pro83Leu)	NC_000001.10:g.27878379G>A	(Likely) benign	1 lab	5d03b5f69e
18:50929444 DCC GCACA>G	18	50929444	50929489	GCACA	G	DCC	c.2935+223_2935+226del	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50929486_50929489del	VUS	1 lab	5d03f6d34f
10:12162802 DHTKD1 G>A	10	12162802	12162802	G	A	DHTKD1	c.2675G>A	NM_018706.7	NP_061176.4:p.(Arg892Gln)	NC_000010.10:g.12162802G>A	VUS	1 lab	5d05efc09b
1:35940497 KIAA0319L T>G	1	35940497	35940497	T	G	KIAA0319L	c.924A>C	NM_024874.5	NP_079150.3:p.(Glu308Asp)	NC_000001.10:g.35940497T>G	(Likely) benign	1 lab	5d07d2567e
2:108455370 RGPD4 G>A	2	108455370	108455370	G	A	RGPD4	c.355G>A	NM_182588.3	NP_872394.2:p.(Glu119Lys)	NC_000002.11:g.108455370G>A	VUS	1 lab	5d097e8a13
7:27855985 TAX1BP1 A>G	7	27855985	27855985	A	G	TAX1BP1	c.1782A>G	NM_006024.7	NP_006015.4:p.(Leu594=)	NC_000007.13:g.27855985A>G	(Likely) benign	1 lab	5d0a0039e5
2:113308478 POLR1B G>A	2	113308478	113308478	G	A	POLR1B	c.661G>A	NM_019014.6	NP_061887.2:p.(Ala221Thr)	NC_000002.11:g.113308478G>A	(Likely) benign	1 lab	5d0a226842
10:61832036 ANK3 T>G	10	61832036	61832036	T	G	ANK3	c.8603A>C	NM_020987.5	NP_066267.2:p.(Glu2868Ala)	NC_000010.10:g.61832036T>G	VUS	1 lab	5d0bea3f13
18:32720261 MAPRE2 G>A	18	32720261	32720261	G	A	MAPRE2	c.912G>A	NM_014268.4	NP_055083.1:p.(Glu304=)	NC_000018.9:g.32720261G>A	VUS	1 lab	5d0ce16d69
2:8873587 KIDINS220 T>C	2	8873587	8873587	T	C	KIDINS220	c.4040A>G	NM_020738.4	NP_065789.1:p.(Asn1347Ser)	NC_000002.11:g.8873587T>C	VUS	1 lab	5d0d3e4229
7:151935853 KMT2C T>C	7	151935853	151935853	T	C	KMT2C	c.2591A>G	NM_170606.3	NP_733751.2:p.(Glu864Gly)	NC_000007.13:g.151935853T>C	VUS	1 lab	5d0de84780
16:1258064 CACNA1H G>A	16	1258064	1258064	G	A	CACNA1H	c.3206G>A	NM_021098.3	NP_066921.2:p.(Arg1069Gln)	NC_000016.9:g.1258064G>A	(Likely) benign	1 lab	5d0e56e298
9:286609 DOCK8 C>G	9	286609	286609	C	G	DOCK8	c.305C>G	NM_203447.4	NP_982272.2:p.(Thr102Ser)	NC_000009.11:g.286609C>G	VUS	1 lab	5d0e91ab4a
11:4159421 RRM1 G>A	11	4159421	4159421	G	A	RRM1	c.2191-4G>A	NM_001033.5	NP_001024.1:p.?	NC_000011.9:g.4159421G>A	VUS	1 lab	5d0f70e068
1:201022621 CACNA1S C>T	1	201022621	201022621	C	T	CACNA1S	c.3761G>A	NM_000069.3	NP_000060.2:p.(Arg1254Gln)	NC_000001.10:g.201022621C>T	(Likely) benign	1 lab	5d10f9a1a6
15:23891232 MAGEL2 G>C	15	23891232	23891232	G	C	MAGEL2	c.1658C>G	NM_019066.5	NP_061939.3:p.(Ala553Gly)	NC_000015.9:g.23891232G>C	(Likely) benign	1 lab	5d11a21187
14:105455409 CLBA1 C>T	14	105455409	105455409	C	T	CLBA1	c.553C>T	NM_174891.4	NP_777551.2:p.(Arg185Cys)	NC_000014.8:g.105455409C>T	(Likely) benign	1 lab	5d126a73cd
19:50905525 POLD1 G>A	19	50905525	50905525	G	A	POLD1	c.653G>A	NM_002691.4	NP_002682.2:p.(Arg218His)	NC_000019.9:g.50905525G>A	VUS	1 lab	5d12eef32d
17:65899836 BPTF G>A	17	65899836	65899836	G	A	BPTF	c.2544-69G>A	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65899836G>A	(Likely) benign	1 lab	5d141ca6d4
1:228447192 OBSCN C>G	1	228447192	228447192	C	G	OBSCN	c.4862-10C>G	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228447192C>G	(Likely) benign	1 lab	5d1500f6ae
1:22154828 HSPG2 C>T	1	22154828	22154828	C	T	HSPG2	c.12329G>A	NM_005529.7	NP_005520.4:p.(Arg4110His)	NC_000001.10:g.22154828C>T	(Likely) benign	1 lab	5d165f4748
19:14199555 SAMD1 C>T	19	14199555	14199555	C	T	SAMD1	c.1386G>A	NM_138352.3	NP_612361.1:p.(Trp462Ter)	NC_000019.9:g.14199555C>T	VUS	1 lab	5d176c9631
2:179596043 TTN A>G	2	179596043	179596043	A	G	TTN	c.17450T>C	NM_001267550.2	NP_001254479.2:p.(Leu5817Pro)	NC_000002.11:g.179596043A>G	VUS	1 lab	5d1785eeb6
17:29676215 NF1 C>T	17	29676215	29676215	C	T	NF1	c.7267C>T	NM_001042492.3	NP_001035957.1:p.(His2423Tyr)	NC_000017.10:g.29676215C>T	(Likely) benign	1 lab	5d18c6eee2
20:30193233 ID1 C>T	20	30193233	30193233	C	T	ID1	c.43C>T	NM_002165.4	NP_002156.2:p.(Pro15Ser)	NC_000020.10:g.30193233C>T	(Likely) benign	1 lab	5d1911c635
6:117249974 RFX6 G>A	6	117249974	117249974	G	A	RFX6	c.2451G>A	NM_173560.4	NP_775831.2:p.(Met817Ile)	NC_000006.11:g.117249974G>A	(Likely) benign	1 lab	5d19b76c9a
21:33068904 SCAF4 G>A	21	33068904	33068904	G	A	SCAF4	c.937C>T	NM_020706.2	NP_065757.1:p.(Pro313Ser)	NC_000021.8:g.33068904G>A	VUS	1 lab	5d1ae43d06
19:48801563 ODAD1 G>A	19	48801563	48801563	G	A	ODAD1	c.1164C>T	NM_144577.4	NP_653178.3:p.(Asp388=)	NC_000019.9:g.48801563G>A	(Likely) benign	1 lab	375d9b70ea
7:2566518 LFNG G>A	7	2566518	2566518	G	A	LFNG	c.1036G>A	NM_001040167.2	NP_001035257.1:p.(Val346Met)	NC_000007.13:g.2566518G>A	(Likely) benign	1 lab	5d1cb084f4
11:71945658 INPPL1 C>T	11	71945658	71945658	C	T	INPPL1	c.2414C>T	NM_001567.4	NP_001558.3:p.(Thr805Met)	NC_000011.9:g.71945658C>T	VUS	1 lab	5d1cdb67f5
1:63044641 DOCK7 C>A	1	63044641	63044641	C	A	DOCK7	c.1872-4G>T	NM_001367561.1	NP_001354490.1:p.?	NC_000001.10:g.63044641C>A	VUS	1 lab	5d1d3559b9
16:2811860 SRRM2 C>T	16	2811860	2811860	C	T	SRRM2	c.1331C>T	NM_016333.4	NP_057417.3:p.(Ala444Val)	NC_000016.9:g.2811860C>T	VUS	1 lab	5d1dbac394
16:56545141 BBS2 G>C	16	56545141	56545141	G	C	BBS2	c.401C>G	NM_031885.5	NP_114091.4:p.(Pro134Arg)	NC_000016.9:g.56545141G>C	VUS	1 lab	5d1ea9942f
1:152281019 FLG G>A	1	152281019	152281019	G	A	FLG	c.6343C>T	NM_002016.2	NP_002007.1:p.(Gln2115Ter)	NC_000001.10:g.152281019G>A	VUS	1 lab	5d1f4625a1
21:46914808 COL18A1 G>C	21	46914808	46914808	G	C	COL18A1	c.2412G>C	NM_001379500.1	NP_001366429.1:p.(Glu804Asp)	NC_000021.8:g.46914808G>C	(Likely) benign	1 lab	5d205ee48c
10:27009167 PDSS1 G>A	10	27009167	27009167	G	A	PDSS1	c.488G>A	NM_014317.5	NP_055132.2:p.(Arg163His)	NC_000010.10:g.27009167G>A	VUS	1 lab	5d2074aacc
17:10541236 MYH3 A>AT	17	10541236	10541242	A	AT	MYH3	c.3745dup	NM_002470.4	NP_002461.2:p.(Ile1249AsnfsTer11)	NC_000017.10:g.10541242dup	VUS	1 lab	5d224650fa
2:210694011 UNC80 C>T	2	210694011	210694011	C	T	UNC80	c.2534C>T	NM_001371986.1	NP_001358915.1:p.(Thr845Ile)	NC_000002.11:g.210694011C>T	VUS	1 lab	5d229063da
X:48624357 GLOD5 A>G	X	48624357	48624357	A	G	GLOD5	c.181A>G	NM_001080489.3	NP_001073958.2:p.(Met61Val)	NC_000023.10:g.48624357A>G	(Likely) benign	1 lab	5d24489184
19:14674069 TECR C>T	19	14674069	14674069	C	T	TECR	c.118C>T	NM_138501.6	NP_612510.1:p.(His40Tyr)	NC_000019.9:g.14674069C>T	(Likely) benign	1 lab	5d24a18de6
2:44566480 PREPL T>C	2	44566480	44566480	T	C	PREPL	c.508A>G	NM_001171613.2	NP_001165084.1:p.(Thr170Ala)	NC_000002.11:g.44566480T>C	VUS	1 lab	5d26339ff8
12:6458129 SCNN1A C>T	12	6458129	6458129	C	T	SCNN1A	c.1540G>A	NM_001038.6	NP_001029.1:p.(Val514Ile)	NC_000012.11:g.6458129C>T	(Likely) benign	1 lab	2220ae4c7a
6:117244356 RFX6 T>G	6	117244356	117244356	T	G	RFX6	c.1524T>G	NM_173560.4	NP_775831.2:p.(His508Gln)	NC_000006.11:g.117244356T>G	(Likely) benign	1 lab	5d280c9ae7
4:170347304 NEK1 A>C	4	170347304	170347304	A	C	NEK1	c.2967T>G	NM_001199397.3	NP_001186326.1:p.(Ile989Met)	NC_000004.11:g.170347304A>C	VUS	1 lab	5d28f1eeed
16:70862260 HYDIN T>TGG	16	70862260	70862264	T	TGG	HYDIN	c.14183_14184dup	NM_001270974.2	NP_001257903.1:p.(Lys4729ProfsTer4)	NC_000016.9:g.70862263_70862264dup	(Likely) pathogenic	1 lab	5d28fc3904
10:72614474 SGPL1 A>G	10	72614474	72614474	A	G	SGPL1	c.271A>G	NM_003901.4	NP_003892.2:p.(Lys91Glu)	NC_000010.10:g.72614474A>G	(Likely) benign	1 lab	5d293ec943
4:96035971 BMPR1B C>T	4	96035971	96035971	C	T	BMPR1B	c.244C>T	NM_001203.3	NP_001194.1:p.(Arg82Trp)	NC_000004.11:g.96035971C>T	VUS	1 lab	5d2b7f0f3e
1:120512145 NOTCH2 T>A	1	120512145	120512145	T	A	NOTCH2	c.1097A>T	NM_024408.4	NP_077719.2:p.(Glu366Val)	NC_000001.10:g.120512145T>A	VUS	1 lab	5d2c957e78
22:41560079 EP300 G>A	22	41560079	41560079	G	A	EP300	c.3751G>A	NM_001429.4	NP_001420.2:p.(Gly1251Arg)	NC_000022.10:g.41560079G>A	VUS	1 lab	5d2caeb990
12:57560731 LRP1 A>G	12	57560731	57560731	A	G	LRP1	c.2816A>G	NM_002332.3	NP_002323.2:p.(Asn939Ser)	NC_000012.11:g.57560731A>G	VUS	1 lab	5d2dc83970
12:82748269 CCDC59 CTTACTTGT>C	12	82748269	82748279	CTTACTTGT	C	CCDC59	c.561_564+4del	NM_014167.5	NP_054886.2:p.?	NC_000012.11:g.82748272_82748279del	(Likely) benign	1 lab	5d3016f375
17:48227816 PPP1R9B C>T	17	48227816	48227816	C	T	PPP1R9B	c.59G>A	NM_032595.5	NP_115984.3:p.(Arg20His)	NC_000017.10:g.48227816C>T	VUS	1 lab	5d30811ff1
1:162688875 DDR2 C>A	1	162688875	162688875	C	A	DDR2	c.22C>A	NM_006182.4	NP_006173.2:p.(Leu8Ile)	NC_000001.10:g.162688875C>A	(Likely) benign	1 lab	5d317ab768
3:58080640 FLNB G>A	3	58080640	58080640	G	A	FLNB	c.865G>A	NM_001457.4	NP_001448.2:p.(Val289Met)	NC_000003.11:g.58080640G>A	(Likely) benign	1 lab	5d33224f89
17:1630070 WDR81 C>T	17	1630070	1630070	C	T	WDR81	c.1817C>T	NM_001163809.2	NP_001157281.1:p.(Pro606Leu)	NC_000017.10:g.1630070C>T	(Likely) benign	1 lab	5d34012db6
X:48370783 PORCN C>T	X	48370783	48370783	C	T	PORCN	c.443C>T	NM_203475.3	NP_982301.1:p.(Thr148Met)	NC_000023.10:g.48370783C>T	(Likely) benign	1 lab	5d35f84306
7:27224368 HOXA11 C>G	7	27224368	27224368	C	G	HOXA11	c.396G>C	NM_005523.6	NP_005514.1:p.(Arg132Ser)	NC_000007.13:g.27224368C>G	(Likely) benign	1 lab	5d39677c05
3:129198625 IFT122 T>C	3	129198625	129198625	T	C	IFT122	c.1351-3T>C	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129198625T>C	(Likely) benign	1 lab	5d39f15dca
1:152280194 FLG C>A	1	152280194	152280194	C	A	FLG	c.7168G>T	NM_002016.2	NP_002007.1:p.(Gly2390Trp)	NC_000001.10:g.152280194C>A	(Likely) benign	1 lab	5d3c25201e
1:74737334 TNNI3K A>G	1	74737334	74737334	A	G	TNNI3K	c.386A>G	NM_015978.3	NP_057062.1:p.(Gln129Arg)	NC_000001.10:g.74737334A>G	VUS	1 lab	2110fbc5ab
20:57599830 TUBB1 G>A	20	57599830	57599830	G	A	TUBB1	c.1348G>A	NM_030773.4	NP_110400.1:p.(Gly450Arg)	NC_000020.10:g.57599830G>A	(Likely) benign	1 lab	5d4111d303
9:131752515 NUP188 T>C	9	131752515	131752515	T	C	NUP188	c.2640+10T>C	NM_015354.3	NP_056169.1:p.?	NC_000009.11:g.131752515T>C	(Likely) benign	1 lab	5d43ca8b60
19:3526252 FZR1 C>T	19	3526252	3526252	C	T	FZR1	c.260-5C>T	NM_016263.4	NP_057347.2:p.?	NC_000019.9:g.3526252C>T	(Likely) benign	1 lab	5d43e2a71e
16:1841488 IGFALS T>C	16	1841488	1841488	T	C	IGFALS	c.931A>G	NM_004970.3	NP_004961.1:p.(Lys311Glu)	NC_000016.9:g.1841488T>C	(Likely) benign	1 lab	5d452fccb9
16:84215885 TAF1C G>A	16	84215885	84215885	G	A	TAF1C	c.644C>T	NM_001243156.2	NP_001230085.2:p.(Ala215Val)	NC_000016.9:g.84215885G>A	VUS	1 lab	5d45d92d50
19:36335268 NPHS1 G>A	19	36335268	36335268	G	A	NPHS1	c.2024C>T	NM_004646.4	NP_004637.1:p.(Ala675Val)	NC_000019.9:g.36335268G>A	(Likely) benign	1 lab	5d4653e26e
9:139734293 RABL6 G>A	9	139734293	139734293	G	A	RABL6	c.1906G>A	NM_024718.5	NP_078994.3:p.(Gly636Arg)	NC_000009.11:g.139734293G>A	(Likely) benign	1 lab	5d46b32eb2
6:148867210 SASH1 G>T	6	148867210	148867210	G	T	SASH1	c.3408G>T	NM_015278.5	NP_056093.3:p.(Gln1136His)	NC_000006.11:g.148867210G>T	VUS	1 lab	5d4705da2e
7:77885295 MAGI2 A>G	7	77885295	77885295	A	G	MAGI2	c.2012T>C	NM_012301.4	NP_036433.2:p.(Ile671Thr)	NC_000007.13:g.77885295A>G	VUS	1 lab	5d4818f815
5:3600125 IRX1 C>T	5	3600125	3600125	C	T	IRX1	c.1063C>T	NM_024337.4	NP_077313.3:p.(Pro355Ser)	NC_000005.9:g.3600125C>T	(Likely) benign	1 lab	5d48a516d9
1:27876321 AHDC1 G>A	1	27876321	27876321	G	A	AHDC1	c.2306C>T	NM_001371928.1	NP_001358857.1:p.(Ala769Val)	NC_000001.10:g.27876321G>A	(Likely) benign	1 lab	5d49bb1a87
1:15651019 FHAD1 C>T	1	15651019	15651019	C	T	FHAD1	c.1437C>T	NM_001391957.1	NP_001378886.1:p.(Ser479=)	NC_000001.10:g.15651019C>T	(Likely) benign	1 lab	5d4b00dcaf
12:65633905 LEMD3 TTTA>T	12	65633905	65633910	TTTA	T	LEMD3	c.2024-8_2024-6del	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65633908_65633910del	VUS	1 lab	5d4b4357c1
17:8048317 PER1 G>A	17	8048317	8048317	G	A	PER1	c.2219-6C>T	NM_002616.3	NP_002607.2:p.?	NC_000017.10:g.8048317G>A	(Likely) benign	1 lab	5d4b59b9d5
2:71778212 DYSF T>C	2	71778212	71778212	T	C	DYSF	c.1618T>C	NM_001130987.2	NP_001124459.1:p.(Tyr540His)	NC_000002.11:g.71778212T>C	VUS	1 lab	5d4b960763
22:41574378 EP300 ACAG>A	22	41574378	41574391	ACAG	A	EP300	c.6674_6676del	NM_001429.4	NP_001420.2:p.(Gln2225del)	NC_000022.10:g.41574389_41574391del	(Likely) benign	1 lab	5d4c1f8c14
2:233404829 CHRNG C>A	2	233404829	233404829	C	A	CHRNG	c.183C>A	NM_005199.5	NP_005190.4:p.(Asn61Lys)	NC_000002.11:g.233404829C>A	VUS	1 lab	5d4c403c95
5:137713512 KDM3B G>A	5	137713512	137713512	G	A	KDM3B	c.578G>A	NM_016604.4	NP_057688.3:p.(Arg193Gln)	NC_000005.9:g.137713512G>A	(Likely) benign	1 lab	5d4c4ded43
14:105416623 AHNAK2 A>T	14	105416623	105416623	A	T	AHNAK2	c.5165T>A	NM_138420.4	NP_612429.2:p.(Val1722Glu)	NC_000014.8:g.105416623A>T	(Likely) benign	1 lab	5d4c6b3fcb
11:68174051 LRP5 C>T	11	68174051	68174051	C	T	LRP5	c.1861C>T	NM_002335.4	NP_002326.2:p.(His621Tyr)	NC_000011.9:g.68174051C>T	VUS	1 lab	5dad9051a8
1:19204026 ALDH4A1 A>T	1	19204026	19204026	A	T	ALDH4A1	c.1021T>A	NM_003748.4	NP_003739.2:p.(Phe341Ile)	NC_000001.10:g.19204026A>T	(Likely) pathogenic	1 lab	5d4db1b1bd
2:241724456 KIF1A T>C	2	241724456	241724456	T	C	KIF1A	c.670A>G	NM_001244008.2	NP_001230937.1:p.(Ile224Val)	NC_000002.11:g.241724456T>C	VUS	1 lab	5d4de6c937
1:3647610 TP73 G>A	1	3647610	3647610	G	A	TP73	c.1465G>A	NM_005427.4	NP_005418.1:p.(Ala489Thr)	NC_000001.10:g.3647610G>A	VUS	1 lab	5dcf984e28
5:176721426 NSD1 C>T	5	176721426	176721426	C	T	NSD1	c.7057C>T	NM_022455.5	NP_071900.2:p.(Pro2353Ser)	NC_000005.9:g.176721426C>T	(Likely) benign	1 lab	5d4f1eac42
3:169835119 PHC3 G>T	3	169835119	169835119	G	T	PHC3	c.2088C>A	NM_024947.4	NP_079223.3:p.(Ser696Arg)	NC_000003.11:g.169835119G>T	VUS	1 lab	5d4f2f6d87
21:45713792 AIRE G>A	21	45713792	45713792	G	A	AIRE	c.1399G>A	NM_000383.4	NP_000374.1:p.(Gly467Arg)	NC_000021.8:g.45713792G>A	VUS	1 lab	5d4fba725d
X:54278071 WNK3 T>A	X	54278071	54278071	T	A	WNK3	c.2417A>T	NM_020922.5	NP_065973.2:p.(Glu806Val)	NC_000023.10:g.54278071T>A	VUS	1 lab	5d50d7b880
1:103345340 COL11A1 A>G	1	103345340	103345340	A	G	COL11A1	c.5173T>C	NM_001854.4	NP_001845.3:p.(Ser1725Pro)	NC_000001.10:g.103345340A>G	(Likely) benign	1 lab	5d50f886d3
19:8650047 ADAMTS10 G>A	19	8650047	8650047	G	A	ADAMTS10	c.3011C>T	NM_030957.4	NP_112219.3:p.(Pro1004Leu)	NC_000019.9:g.8650047G>A	VUS	1 lab	5d5128c166
11:68206068 LRP5 C>G	11	68206068	68206068	C	G	LRP5	c.4266C>G	NM_002335.4	NP_002326.2:p.(Phe1422Leu)	NC_000011.9:g.68206068C>G	(Likely) benign	1 lab	5d52534e6f
4:57976139 IGFBP7 A>G	4	57976139	57976139	A	G	IGFBP7	c.379T>C	NM_001553.3	NP_001544.1:p.(Tyr127His)	NC_000004.11:g.57976139A>G	VUS	1 lab	5d537045d8
6:24454335 GPLD1 G>A	6	24454335	24454335	G	A	GPLD1	c.1243C>T	NM_001503.4	NP_001494.2:p.(Arg415Cys)	NC_000006.11:g.24454335G>A	VUS	1 lab	5d53f462f4
16:9984973 GRIN2A G>C	16	9984973	9984973	G	C	GRIN2A	c.1008-16C>G	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9984973G>C	(Likely) benign	1 lab	2224041e90
7:116417457 MET G>A	7	116417457	116417457	G	A	MET	c.3328G>A	NM_001127500.1	NP_001120972.1:p.(Val1110Ile)	NC_000007.13:g.116417457G>A	(Likely) pathogenic	1 lab	22261889bc
12:21620551 PYROXD1 A>T	12	21620551	21620551	A	T	PYROXD1	c.1253A>T	NM_024854.5	NP_079130.2:p.(Lys418Met)	NC_000012.11:g.21620551A>T	VUS	1 lab	5d5884f873
13:77529613 ACOD1 G>C	13	77529613	77529613	G	C	ACOD1	c.424G>C	NM_001258406.2	NP_001245335.1:p.(Gly142Arg)	NC_000013.10:g.77529613G>C	(Likely) benign	1 lab	5d59987a1c
X:30237145 MAGEB2 C>G	X	30237145	30237145	C	G	MAGEB2	c.448C>G	NM_002364.5	NP_002355.2:p.(Pro150Ala)	NC_000023.10:g.30237145C>G	(Likely) benign	1 lab	5d5a134fd4
2:73678130 ALMS1 G>T	2	73678130	73678130	G	T	ALMS1	c.4476G>T	NM_001378454.1	NP_001365383.1:p.(Glu1492Asp)	NC_000002.11:g.73678130G>T	(Likely) benign	1 lab	5d5a2b90ba
10:89624282 PTEN A>T	10	89624282	89624282	A	T	PTEN	c.56A>T	NM_000314.8	NP_000305.3:p.(Asp19Val)	NC_000010.10:g.89624282A>T	(Likely) pathogenic	1 lab	5d5cb5f060
11:20623108 SLC6A5 C>A	11	20623108	20623108	C	A	SLC6A5	c.437C>A	NM_004211.5	NP_004202.4:p.(Thr146Asn)	NC_000011.9:g.20623108C>A	VUS	1 lab	5d5ce5219a
11:103014108 DYNC2H1 G>T	11	103014108	103014108	G	T	DYNC2H1	c.2686G>T	NM_001377.3	NP_001368.2:p.(Val896Leu)	NC_000011.9:g.103014108G>T	(Likely) benign	1 lab	5d5d31ce9a
X:140994548 MAGEC1 A>C	X	140994548	140994548	A	C	MAGEC1	c.1358A>C	NM_005462.5	NP_005453.2:p.(Tyr453Ser)	NC_000023.10:g.140994548A>C	(Likely) benign	1 lab	5d5d60a7e5
20:44641887 MMP9 T>C	20	44641887	44641887	T	C	MMP9	c.1331-7T>C	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44641887T>C	VUS	1 lab	5d5d7fde6e
20:57899468 EDN3 C>T	20	57899468	57899468	C	T	EDN3	c.671C>T	NM_207034.3	NP_996917.1:p.(Ala224Val)	NC_000020.10:g.57899468C>T	(Likely) benign	1 lab	5d61b3c669
7:31009485 GHRHR C>T	7	31009485	31009485	C	T	GHRHR	c.272C>T	NM_000823.4	NP_000814.2:p.(Ala91Val)	NC_000007.13:g.31009485C>T	(Likely) benign	1 lab	5d63bb666d
4:88959407 PKD2 C>G	4	88959407	88959407	C	G	PKD2	c.848C>G	NM_000297.4	NP_000288.1:p.(Thr283Arg)	NC_000004.11:g.88959407C>G	VUS	1 lab	5e217a9451
X:153039171 PLXNB3 G>A	X	153039171	153039171	G	A	PLXNB3	c.3279+3G>A	NM_005393.3	NP_005384.2:p.?	NC_000023.10:g.153039171G>A	(Likely) benign	1 lab	5d652e3063
3:184072060 CLCN2 G>A	3	184072060	184072060	G	A	CLCN2	c.1550C>T	NM_004366.6	NP_004357.3:p.(Thr517Met)	NC_000003.11:g.184072060G>A	VUS	1 lab	5d68cb7b3e
16:9858298 GRIN2A C>T	16	9858298	9858298	C	T	GRIN2A	c.3103G>A	NM_001134407.3	NP_001127879.1:p.(Asp1035Asn)	NC_000016.9:g.9858298C>T	(Likely) benign	1 lab	5d6921a101
18:59752457 PIGN A>T	18	59752457	59752457	A	T	PIGN	c.2411T>A	NM_176787.5	NP_789744.1:p.(Ile804Lys)	NC_000018.9:g.59752457A>T	(Likely) benign	1 lab	5d6c610984
15:89402504 ACAN G>T	15	89402504	89402504	G	T	ACAN	c.6688G>T	NM_001369268.1	NP_001356197.1:p.(Ala2230Ser)	NC_000015.9:g.89402504G>T	VUS	1 lab	5d6c94c03d
9:95033853 IARS1 T>G	9	95033853	95033853	T	G	IARS1	c.1075A>C	NM_002161.6	NP_002152.2:p.(Thr359Pro)	NC_000009.11:g.95033853T>G	(Likely) benign	1 lab	5d72d20bcb
7:44191891 GCK G>A	7	44191891	44191891	G	A	GCK	c.342C>T	NM_000162.5	NP_000153.1:p.(Ala114=)	NC_000007.13:g.44191891G>A	VUS	1 lab	5d7457d01d
13:110864784 COL4A1 G>A	13	110864784	110864784	G	A	COL4A1	c.367C>T	NM_001845.6	NP_001836.3:p.(Pro123Ser)	NC_000013.10:g.110864784G>A	(Likely) benign	1 lab	5d754872df
13:37678784 CSNK1A1L T>C	13	37678784	37678784	T	C	CSNK1A1L	c.610A>G	NM_145203.6	NP_660204.2:p.(Met204Val)	NC_000013.10:g.37678784T>C	(Likely) benign	1 lab	5d7552963b
12:53345502 KRT18 CCCCAT>C	12	53345502	53345509	CCCCAT	C	KRT18	c.823-10_823-6del	NM_000224.3	NP_000215.1:p.?	NC_000012.11:g.53345505_53345509del	(Likely) benign	1 lab	5d75fd8f0c
14:21868413 CHD8 T>C	14	21868413	21868413	T	C	CHD8	c.4624A>G	NM_001170629.2	NP_001164100.1:p.(Ser1542Gly)	NC_000014.8:g.21868413T>C	(Likely) benign	1 lab	5d76cbf400
15:73022011 BBS4 C>G	15	73022011	73022011	C	G	BBS4	c.697C>G	NM_033028.5	NP_149017.2:p.(Pro233Ala)	NC_000015.9:g.73022011C>G	VUS	1 lab	5d77166067
3:170715864 SLC2A2 A>G	3	170715864	170715864	A	G	SLC2A2	c.1403T>C	NM_000340.2	NP_000331.1:p.(Leu468Pro)	NC_000003.11:g.170715864A>G	(Likely) benign	1 lab	5d772a52ad
7:21750317 DNAH11 A>G	7	21750317	21750317	A	G	DNAH11	c.6830A>G	NM_001277115.2	NP_001264044.1:p.(Asn2277Ser)	NC_000007.13:g.21750317A>G	VUS	1 lab	5d77b08722
6:29641329 ZFP57 G>A	6	29641329	29641329	G	A	ZFP57	c.559C>T	NM_001109809.5	NP_001103279.2:p.(Arg187Cys)	NC_000006.11:g.29641329G>A	(Likely) benign	1 lab	5d782ac8bf
16:2147246 PKD1 G>C	16	2147246	2147246	G	C	PKD1	c.10406-4C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147246G>C	(Likely) benign	1 lab	5d785b57d7
18:24237312 KCTD1 G>A	18	24237312	24237312	G	A	KCTD1	c.9+12C>T	NM_001258222.3	NP_001245151.1:p.?	NC_000018.9:g.24237312G>A	(Likely) benign	1 lab	222663b5c2
10:35929140 FZD8 G>A	10	35929140	35929140	G	A	FZD8	c.1218C>T	NM_031866.3	NP_114072.1:p.(Phe406=)	NC_000010.10:g.35929140G>A	(Likely) benign	1 lab	5d797660b9
6:88221109 SLC35A1 C>T	6	88221109	88221109	C	T	SLC35A1	c.887-8C>T	NM_006416.5	NP_006407.1:p.?	NC_000006.11:g.88221109C>T	(Likely) benign	1 lab	5d79c99120
13:36245112 NBEA A>G	13	36245112	36245112	A	G	NBEA	c.8888A>G	NM_001385012.1	NP_001371941.1:p.(His2963Arg)	NC_000013.10:g.36245112A>G	VUS	1 lab	5d7ea015e5
2:200171217 SATB2 T>A	2	200171217	200171217	T	A	SATB2	c.1740+2266A>T	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200171217T>A	(Likely) benign	1 lab	5d7fb8cb69
16:2144114 PKD1 CCTGGGGCTGTTCCCAGTTCAGGCCTGGG>C	16	2144114	2144147	CCTGGGGCTGTTCCCAGTTCAGGCCTGGG	C	PKD1	c.10569_10596del	NM_001009944.3	NP_001009944.3:p.(Ser3523ArgfsTer53)	NC_000016.9:g.2144120_2144147del	(Likely) pathogenic	1 lab	5d801a0aa2
15:89390507 ACAN G>A	15	89390507	89390507	G	A	ACAN	c.1463G>A	NM_001369268.1	NP_001356197.1:p.(Arg488His)	NC_000015.9:g.89390507G>A	VUS	1 lab	5d80a89363
2:219920515 IHH C>T	2	219920515	219920515	C	T	IHH	c.650G>A	NM_002181.4	NP_002172.2:p.(Arg217His)	NC_000002.11:g.219920515C>T	VUS	1 lab	5d80d385e6
7:138603236 KIAA1549 G>C	7	138603236	138603236	G	C	KIAA1549	c.1136C>G	NM_001164665.2	NP_001158137.1:p.(Ser379Cys)	NC_000007.13:g.138603236G>C	(Likely) benign	1 lab	5d82aa07d5
19:38993374 RYR1 C>T	19	38993374	38993374	C	T	RYR1	c.7835+7C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38993374C>T	(Likely) benign	1 lab	5d82d5ff21
3:46751073 TMIE TAAGAAGAAG>T	3	46751073	46751100	TAAGAAGAAG	T	TMIE	c.385_393del	NM_147196.3	NP_671729.2:p.(Lys129_Lys131del)	NC_000003.11:g.46751092_46751100del	(Likely) benign	1 lab	5d842628d9
8:38274933 FGFR1 C>T	8	38274933	38274933	C	T	FGFR1	c.1554G>A	NM_023110.3	NP_075598.2:p.(Ser518=)	NC_000008.10:g.38274933C>T	VUS	1 lab	5d84325603
6:32010604 TNXB A>T	6	32010604	32010604	A	T	TNXB	c.11930T>A	NM_001365276.2	NP_001352205.1:p.(Ile3977Asn)	NC_000006.11:g.32010604A>T	VUS	1 lab	5d84410332
X:50163418 DGKK G>T	X	50163418	50163418	G	T	DGKK	c.925C>A	NM_001013742.4	NP_001013764.1:p.(Gln309Lys)	NC_000023.10:g.50163418G>T	(Likely) benign	1 lab	5d8643f3d3
1:243736227 AKT3 C>T	1	243736227	243736227	C	T	AKT3	c.819+1G>A	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243736227C>T	(Likely) benign	1 lab	5d8835ce97
19:7828180 CLEC4M C>A	19	7828180	7828180	C	A	CLEC4M	c.28C>A	NM_014257.5	NP_055072.3:p.(Gln10Lys)	NC_000019.9:g.7828180C>A	(Likely) benign	1 lab	5d8869b54b
10:51226176 PARG C>T	10	51226176	51226176	C	T	PARG	c.1454-95461G>A	NM_003631.5	NP_003622.2:p.?	NC_000010.10:g.51226176C>T	(Likely) benign	1 lab	5d88d27555
11:17655633 OTOG G>T	11	17655633	17655633	G	T	OTOG	c.7285G>T	NM_001292063.2	NP_001278992.1:p.(Gly2429Trp)	NC_000011.9:g.17655633G>T	VUS	1 lab	5d892220f4
19:19465184 MAU2 G>T	19	19465184	19465184	G	T	MAU2	c.1569G>T	NM_015329.4	NP_056144.3:p.(Val523=)	NC_000019.9:g.19465184G>T	VUS	1 lab	5d89d25718
3:35758792 ARPP21 G>A	3	35758792	35758792	G	A	ARPP21	c.938G>A	NM_001385562.1	NP_001372491.1:p.(Arg313Lys)	NC_000003.11:g.35758792G>A	(Likely) benign	1 lab	5d8a2a8efd
4:191003252 MISSING C>A	4	191003252	191003252	C	A	MISSING				NC_000004.11:g.191003252C>A	VUS	1 lab	5d8a9fb6d7
4:95155123 SMARCAD1 TGAA>T	4	95155123	95155128	TGAA	T	SMARCAD1	c.390_392del	NM_020159.5	NP_064544.2:p.(Glu131del)	NC_000004.11:g.95155126_95155128del	VUS	1 lab	5d8d91ecfd
14:45542500 TOGARAM1 T>C	14	45542500	45542500	T	C	TOGARAM1	c.5058T>C	NM_001308120.2	NP_001295049.1:p.(Asp1686=)	NC_000014.8:g.45542500T>C	(Likely) benign	1 lab	5d8d96c24b
4:5564640 EVC2 GA>G	4	5564640	5564642	GA	G	EVC2	c.3861del	NM_147127.5	NP_667338.3:p.(Pro1288LeufsTer9)	NC_000004.11:g.5564642del	VUS	1 lab	5d8e07088f
1:220275842 IARS2 C>T	1	220275842	220275842	C	T	IARS2	c.755C>T	NM_018060.4	NP_060530.3:p.(Ala252Val)	NC_000001.10:g.220275842C>T	VUS	1 lab	5d8ff20ef2
1:155208005 GBA1 A>C	1	155208005	155208005	A	C	GBA1	c.681T>G	NM_000157.4	NP_000148.2:p.(Asn227Lys)	NC_000001.10:g.155208005A>C	VUS	1 lab	5d90297320
3:49878416 TRAIP A>AC	3	49878416	49878418	A	AC	TRAIP	c.705+1dup	NM_005879.3	NP_005870.2:p.?	NC_000003.11:g.49878418dup	VUS	1 lab	5d93ee5633
1:22846655 ZBTB40 C>T	1	22846655	22846655	C	T	ZBTB40	c.2935C>T	NM_014870.4	NP_055685.3:p.(Pro979Ser)	NC_000001.10:g.22846655C>T	VUS	1 lab	5d95ea370f
14:23886857 MYH7 GC>G	14	23886857	23886859	GC	G	MYH7	c.4207del	NM_000257.4	NP_000248.2:p.(Ala1403ProfsTer26)	NC_000014.8:g.23886859del	VUS	1 lab	5d9618f5fb
5:176940769 DDX41 G>A	5	176940769	176940769	G	A	DDX41	c.1015C>T	NM_016222.4	NP_057306.2:p.(Arg339Cys)	NC_000005.9:g.176940769G>A	(Likely) pathogenic	1 lab	2115b927e0
X:47516972 UXT C>G	X	47516972	47516972	C	G	UXT	c.247G>C	NM_004182.4	NP_004173.1:p.(Val83Leu)	NC_000023.10:g.47516972C>G	VUS	1 lab	5d98442255
X:54224788 WNK3 T>A	X	54224788	54224788	T	A	WNK3	c.5372A>T	NM_020922.5	NP_065973.2:p.(Asn1791Ile)	NC_000023.10:g.54224788T>A	(Likely) benign	1 lab	5d98f4b2d6
15:41226821 DLL4 C>G	15	41226821	41226821	C	G	DLL4	c.926C>G	NM_019074.4	NP_061947.1:p.(Thr309Ser)	NC_000015.9:g.41226821C>G	VUS	1 lab	5d9a88a359
2:241700169 KIF1A G>A	2	241700169	241700169	G	A	KIF1A	c.2357C>T	NM_001244008.2	NP_001230937.1:p.(Thr786Met)	NC_000002.11:g.241700169G>A	VUS	1 lab	5d9c362406
9:140728858 EHMT1 A>T	9	140728858	140728858	A	T	EHMT1	c.3598A>T	NM_024757.5	NP_079033.4:p.(Asn1200Tyr)	NC_000009.11:g.140728858A>T	VUS	1 lab	5d9f4d73da
21:46916463 COL18A1 C>T	21	46916463	46916463	C	T	COL18A1	c.2558C>T	NM_001379500.1	NP_001366429.1:p.(Thr853Ile)	NC_000021.8:g.46916463C>T	(Likely) benign	1 lab	5d9fe79342
22:45958908 FBLN1 G>T	22	45958908	45958908	G	T	FBLN1	c.1698-11483G>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45958908G>T	VUS	1 lab	5e15ad741b
22:50893154 SBF1 G>A	22	50893154	50893154	G	A	SBF1	c.4830C>T	NM_002972.4	NP_002963.2:p.(Ser1610=)	NC_000022.10:g.50893154G>A	(Likely) benign	1 lab	5da259d9ae
20:52789886 CYP24A1 C>A	20	52789886	52789886	C	A	CYP24A1	c.233G>T	NM_000782.5	NP_000773.2:p.(Gly78Val)	NC_000020.10:g.52789886C>A	VUS	1 lab	5da26371ed
16:30734058 SRCAP C>T	16	30734058	30734058	C	T	SRCAP	c.3881C>T	NM_006662.3	NP_006653.2:p.(Ala1294Val)	NC_000016.9:g.30734058C>T	(Likely) benign	1 lab	5da500d26c
9:140082416 ANAPC2 T>C	9	140082416	140082416	T	C	ANAPC2	c.257A>G	NM_013366.4	NP_037498.1:p.(Asn86Ser)	NC_000009.11:g.140082416T>C	(Likely) benign	1 lab	5dab9373a5
3:48508544 TREX1 C>T	3	48508544	48508544	C	T	TREX1	c.490C>T	NM_033629.6	NP_338599.1:p.(Arg164Ter)	NC_000003.11:g.48508544C>T	(Likely) pathogenic	1 lab	5dac4646f3
X:53584349 HUWE1 G>A	X	53584349	53584349	G	A	HUWE1	c.8200C>T	NM_031407.7	NP_113584.3:p.(Leu2734Phe)	NC_000023.10:g.53584349G>A	VUS	1 lab	5dad513426
2:166183327 SCN2A A>C	2	166183327	166183327	A	C	SCN2A	c.2017-35A>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183327A>C	(Likely) benign	1 lab	222b48c49e
6:130387577 L3MBTL3 A>G	6	130387577	130387577	A	G	L3MBTL3	c.944A>G	NM_032438.4	NP_115814.1:p.(Asp315Gly)	NC_000006.11:g.130387577A>G	VUS	1 lab	5dadae6a39
9:140811755 CACNA1B G>A	9	140811755	140811755	G	A	CACNA1B	c.838G>A	NM_000718.4	NP_000709.1:p.(Asp280Asn)	NC_000009.11:g.140811755G>A	VUS	1 lab	5dade11c32
4:5969171 C4orf50 C>T	4	5969171	5969171	C	T	C4orf50	c.4123G>A	NM_001364689.3	NP_001351618.1:p.(Val1375Ile)	NC_000004.11:g.5969171C>T	VUS	1 lab	5dafa95a8c
3:184064514 CLCN2 G>C	3	184064514	184064514	G	C	CLCN2	c.2577C>G	NM_004366.6	NP_004357.3:p.(Asp859Glu)	NC_000003.11:g.184064514G>C	VUS	1 lab	5db102eccf
6:157454311 ARID1B G>A	6	157454311	157454311	G	A	ARID1B	c.2770G>A	NM_001371656.1	NP_001358585.1:p.(Gly924Ser)	NC_000006.11:g.157454311G>A	(Likely) benign	1 lab	222bce6716
9:140637931 EHMT1 C>T	9	140637931	140637931	C	T	EHMT1	c.932C>T	NM_024757.5	NP_079033.4:p.(Thr311Met)	NC_000009.11:g.140637931C>T	(Likely) benign	1 lab	211b7874aa
17:44117059 KANSL1 G>A	17	44117059	44117059	G	A	KANSL1	c.2203+9C>T	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44117059G>A	(Likely) benign	1 lab	5db196b155
17:56349128 MPO T>C	17	56349128	56349128	T	C	MPO	c.1918A>G	NM_000250.2	NP_000241.1:p.(Ile640Val)	NC_000017.10:g.56349128T>C	VUS	1 lab	5db1ece14d
11:8662007 TRIM66 C>T	11	8662007	8662007	C	T	TRIM66	c.1915G>A	NM_001388022.1	NP_001374951.1:p.(Glu639Lys)	NC_000011.9:g.8662007C>T	(Likely) benign	1 lab	5db37ff614
17:40688680 NAGLU C>T	17	40688680	40688680	C	T	NAGLU	c.383+7C>T	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40688680C>T	(Likely) benign	1 lab	5db3d81c23
20:31023520 ASXL1 C>A	20	31023520	31023520	C	A	ASXL1	c.3005C>A	NM_015338.6	NP_056153.2:p.(Ala1002Asp)	NC_000020.10:g.31023520C>A	VUS	1 lab	5db7f9bf86
5:131973793 RAD50 C>T	5	131973793	131973793	C	T	RAD50	c.3496C>T	NM_005732.4	NP_005723.2:p.(Arg1166Trp)	NC_000005.9:g.131973793C>T	VUS	1 lab	5db8ec2ba6
11:46338930 CREB3L1 G>T	11	46338930	46338930	G	T	CREB3L1	c.1150G>T	NM_052854.4	NP_443086.1:p.(Val384Phe)	NC_000011.9:g.46338930G>T	VUS	1 lab	5db8f59d84
15:100673526 ADAMTS17 G>A	15	100673526	100673526	G	A	ADAMTS17	c.1474-6C>T	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100673526G>A	(Likely) benign	1 lab	5dba1a7d00
12:88471566 CEP290 CT>C	12	88471566	88471571	CT	C	CEP290	c.5493del	NM_025114.4	NP_079390.3:p.(Ala1832ProfsTer19)	NC_000012.11:g.88471571del	(Likely) pathogenic	1 lab	5dba3fdfca
17:73486799 TMEM94 A>G	17	73486799	73486799	A	G	TMEM94	c.1088A>G	NM_014738.6	NP_055553.3:p.(Glu363Gly)	NC_000017.10:g.73486799A>G	VUS	1 lab	5dbb53a816
X:151303922 MAGEA10 AGAG>A	X	151303922	151303935	AGAG	A	MAGEA10	c.168_170del	NM_021048.5	NP_066386.3:p.(Ser62del)	NC_000023.10:g.151303933_151303935del	VUS	1 lab	5dbb861caa
17:48668887 CACNA1G C>T	17	48668887	48668887	C	T	CACNA1G	c.2545C>T	NM_018896.5	NP_061496.2:p.(Pro849Ser)	NC_000017.10:g.48668887C>T	VUS	1 lab	211f8c143b
8:3611536 CSMD1 C>A	8	3611536	3611536	C	A	CSMD1	c.847G>T	NM_033225.6	NP_150094.5:p.(Val283Phe)	NC_000008.10:g.3611536C>A	(Likely) benign	1 lab	5dbda77868
11:69934023 ANO1 G>A	11	69934023	69934023	G	A	ANO1	c.274G>A	NM_018043.7	NP_060513.5:p.(Ala92Thr)	NC_000011.9:g.69934023G>A	VUS	1 lab	5dbde47bd5
19:38945908 RYR1 C>G	19	38945908	38945908	C	G	RYR1	c.1474C>G	NM_000540.3	NP_000531.2:p.(Arg492Gly)	NC_000019.9:g.38945908C>G	VUS	1 lab	5dbed30126
13:80911782 SPRY2 T>G	13	80911782	80911782	T	G	SPRY2	c.59A>C	NM_005842.4	NP_005833.1:p.(Asp20Ala)	NC_000013.10:g.80911782T>G	(Likely) benign	1 lab	5dbf23befb
15:66273187 MEGF11 G>T	15	66273187	66273187	G	T	MEGF11	c.691C>A	NM_001385028.1	NP_001371957.1:p.(Arg231Ser)	NC_000015.9:g.66273187G>T	(Likely) benign	1 lab	5dc015f3ee
10:16979714 CUBN T>C	10	16979714	16979714	T	C	CUBN	c.5803A>G	NM_001081.4	NP_001072.2:p.(Ser1935Gly)	NC_000010.10:g.16979714T>C	(Likely) benign	1 lab	212075fb86
1:11889290 CLCN6 G>A	1	11889290	11889290	G	A	CLCN6	c.1159G>A	NM_001286.5	NP_001277.2:p.(Val387Met)	NC_000001.10:g.11889290G>A	(Likely) benign	1 lab	5dc18f9ee7
1:27876683 AHDC1 C>A	1	27876683	27876683	C	A	AHDC1	c.1944G>T	NM_001371928.1	NP_001358857.1:p.(Gln648His)	NC_000001.10:g.27876683C>A	VUS	1 lab	5dc8fa4d3c
20:57415519 GNAS-AS1 G>A	20	57415519	57415519	G	A	GNAS-AS1	n.672+1473C>T	NR_185847.1		NC_000020.10:g.57415519G>A	VUS	1 lab	5dc91b28bd
9:101052916 GABBR2 G>A	9	101052916	101052916	G	A	GABBR2	c.2776C>T	NM_005458.8	NP_005449.5:p.(Arg926Cys)	NC_000009.11:g.101052916G>A	VUS	1 lab	21215fdcc0
17:17698428 RAI1 T>C	17	17698428	17698428	T	C	RAI1	c.2166T>C	NM_030665.4	NP_109590.3:p.(Thr722=)	NC_000017.10:g.17698428T>C	(Likely) benign	1 lab	5dd2911d78
19:42753020 ERF G>A	19	42753020	42753020	G	A	ERF	c.1244C>T	NM_006494.4	NP_006485.2:p.(Ala415Val)	NC_000019.9:g.42753020G>A	(Likely) benign	1 lab	5dca33c7e6
4:5642259 EVC2 C>T	4	5642259	5642259	C	T	EVC2	c.1452G>A	NM_147127.5	NP_667338.3:p.(Leu484=)	NC_000004.11:g.5642259C>T	(Likely) benign	1 lab	5dcd255457
11:67259777 PITPNM1 G>A	11	67259777	67259777	G	A	PITPNM1	c.3472-10C>T	NM_004910.3	NP_004901.2:p.?	NC_000011.9:g.67259777G>A	(Likely) benign	1 lab	5dcd48d3d5
X:138865352 ATP11C T>C	X	138865352	138865352	T	C	ATP11C	c.1741A>G	NM_001353812.2	NP_001340741.2:p.(Thr581Ala)	NC_000023.10:g.138865352T>C	(Likely) benign	1 lab	5dcd4adfe2
15:89414648 ACAN C>T	15	89414648	89414648	C	T	ACAN	c.7096C>T	NM_001369268.1	NP_001356197.1:p.(Gln2366Ter)	NC_000015.9:g.89414648C>T	(Likely) pathogenic	1 lab	5dce2e69f6
1:229568718 ACTA1 G>A	1	229568718	229568718	G	A	ACTA1	c.129+16C>T	NM_001100.4	NP_001091.1:p.?	NC_000001.10:g.229568718G>A	(Likely) benign	1 lab	5dce60811f
21:46875586 COL18A1 C>G	21	46875586	46875586	C	G	COL18A1	c.107-12570C>G	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875586C>G	(Likely) benign	1 lab	5dcea39485
3:56658549 TASOR G>A	3	56658549	56658549	G	A	TASOR	c.4441C>T	NM_001365635.2	NP_001352564.1:p.(Leu1481Phe)	NC_000003.11:g.56658549G>A	(Likely) benign	1 lab	5dcf2d322f
17:61994857 GH1 C>A	17	61994857	61994857	C	A	GH1	c.466G>T	NM_000515.5	NP_000506.2:p.(Asp156Tyr)	NC_000017.10:g.61994857C>A	VUS	1 lab	5dcf32372d
5:160973403 GABRB2 T>C	5	160973403	160973403	T	C	GABRB2	c.94A>G	NM_001371727.1	NP_001358656.1:p.(Asn32Asp)	NC_000005.9:g.160973403T>C	VUS	1 lab	5dcf8f4513
8:145739449 RECQL4 TGAG>T	8	145739449	145739453	TGAG	T	RECQL4	c.1918_1920del	NM_004260.4	NP_004251.4:p.(Leu640del)	NC_000008.10:g.145739451_145739453del	VUS	1 lab	5dd38fdb83
19:55341407 KIR3DL1 C>A	19	55341407	55341407	C	A	KIR3DL1	c.1130C>A	NM_013289.4	NP_037421.2:p.(Pro377His)	NC_000019.9:g.55341407C>A	(Likely) benign	1 lab	5dd4066c83
2:100210283 AFF3 G>C	2	100210283	100210283	G	C	AFF3	c.1840C>G	NM_001386135.1	NP_001373064.1:p.(Leu614Val)	NC_000002.11:g.100210283G>C	VUS	1 lab	5dd418749e
15:41863884 TYRO3 T>TGG	15	41863884	41863886	T	TGG	TYRO3	c.1753_1753+1dup	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41863885_41863886dup	VUS	1 lab	5dd428460f
15:30385594 GOLGA8J G>T	15	30385594	30385594	G	T	GOLGA8J	c.1791G>T	NM_001282472.2	NP_001269401.1:p.(Lys597Asn)	NC_000015.9:g.30385594G>T	(Likely) benign	1 lab	5dd43511a1
5:138852242 SMIM33 C>A	5	138852242	138852242	C	A	SMIM33	c.135C>A	NM_001365197.1	NP_001352126.1:p.(Val45=)	NC_000005.9:g.138852242C>A	(Likely) benign	1 lab	5de0f7de50
3:157823554 SHOX2 GCTCCTCCGCCTGCTC>G	3	157823554	157823576	GCTCCTCCGCCTGCTC	G	SHOX2	c.245_259del	NM_001163678.2	NP_001157150.1:p.(Gly82_Gly86del)	NC_000003.11:g.157823562_157823576del	VUS	1 lab	5dd47d7322
14:56145134 KTN1 T>C	14	56145134	56145134	T	C	KTN1	c.3920T>C	NM_001079521.2	NP_001072989.1:p.(Ile1307Thr)	NC_000014.8:g.56145134T>C	(Likely) benign	1 lab	5dd5bc9e93
5:127641253 FBN2 C>T	5	127641253	127641253	C	T	FBN2	c.5624G>A	NM_001999.4	NP_001990.2:p.(Arg1875His)	NC_000005.9:g.127641253C>T	VUS	1 lab	5dd7db496c
5:36962248 NIPBL G>T	5	36962248	36962248	G	T	NIPBL	c.482G>T	NM_133433.4	NP_597677.2:p.(Ser161Ile)	NC_000005.9:g.36962248G>T	VUS	1 lab	5dd9131ed7
17:40370235 STAT5B T>TG	17	40370235	40370243	T	TG	STAT5B	c.1102dup	NM_012448.4	NP_036580.2:p.(Gln368ProfsTer9)	NC_000017.10:g.40370243dup	(Likely) pathogenic	1 lab	5dd9428556
3:58116619 FLNB G>T	3	58116619	58116619	G	T	FLNB	c.4374G>T	NM_001457.4	NP_001448.2:p.(Arg1458Ser)	NC_000003.11:g.58116619G>T	VUS	1 lab	5ddb1d92f3
19:4099316 MAP2K2 G>A	19	4099316	4099316	G	A	MAP2K2	c.802C>T	NM_030662.4	NP_109587.1:p.(Pro268Ser)	NC_000019.9:g.4099316G>A	(Likely) benign	1 lab	5ddb707b49
19:1467977 APC2 G>A	19	1467977	1467977	G	A	APC2	c.4677G>A	NM_005883.3	NP_005874.1:p.(Pro1559=)	NC_000019.9:g.1467977G>A	(Likely) benign	1 lab	5ddbbd645a
20:42225177 IFT52 C>T	20	42225177	42225177	C	T	IFT52	c.207+15C>T	NM_016004.5	NP_057088.2:p.?	NC_000020.10:g.42225177C>T	(Likely) benign	1 lab	5ddbfa8a82
10:89623918 PTEN C>G	10	89623918	89623918	C	G	PTEN	c.-309C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623918C>G	VUS	1 lab	5ddd2516ca
7:147600764 CNTNAP2 T>A	7	147600764	147600764	T	A	CNTNAP2	c.2206T>A	NM_014141.6	NP_054860.1:p.(Cys736Ser)	NC_000007.13:g.147600764T>A	VUS	1 lab	5ddd5cddc3
1:42045770 HIVEP3 G>A	1	42045770	42045770	G	A	HIVEP3	c.4699C>T	NM_024503.5	NP_078779.2:p.(Pro1567Ser)	NC_000001.10:g.42045770G>A	(Likely) benign	1 lab	5dde592257
1:161017765 ARHGAP30 G>A	1	161017765	161017765	G	A	ARHGAP30	c.3046C>T	NM_001025598.2	NP_001020769.1:p.(Arg1016Trp)	NC_000001.10:g.161017765G>A	VUS	1 lab	5dde603cf7
11:134127144 ACAD8 AT>A	11	134127144	134127145	AT	A	ACAD8	c.374del	NM_014384.3	NP_055199.1:p.(Ile125ThrfsTer8)	NC_000011.9:g.134127145del	VUS	1 lab	5de0f76bb1
13:32929011 BRCA2 C>T	13	32929011	32929011	C	T	BRCA2	c.7021C>T	NM_000059.4	NP_000050.3:p.(Arg2341Cys)	NC_000013.10:g.32929011C>T	VUS	1 lab	5de112359f
20:10388293 MKKS T>TTTCA	20	10388293	10388297	T	TTTCA	MKKS	c.1239_1242dup	NM_170784.3	NP_740754.1:p.(Thr415Ter)	NC_000020.10:g.10388294_10388297dup	(Likely) pathogenic	1 lab	5de11342df
6:28359101 ZSCAN12 TA>T	6	28359101	28359102	TA	T	ZSCAN12	c.965del	NM_001163391.2	NP_001156863.1:p.(Ile322LysfsTer304)	NC_000006.11:g.28359102del	(Likely) benign	1 lab	5de2403f1c
4:5570255 EVC2 A>C	4	5570255	5570255	A	C	EVC2	c.3473T>G	NM_147127.5	NP_667338.3:p.(Leu1158Arg)	NC_000004.11:g.5570255A>C	VUS	1 lab	5de2cfe5f4
16:67693941 ACD T>C	16	67693941	67693941	T	C	ACD	c.107A>G	NM_001082486.2	NP_001075955.2:p.(Gln36Arg)	NC_000016.9:g.67693941T>C	VUS	1 lab	5de2d4d9dc
4:119234368 PRSS12 T>C	4	119234368	119234368	T	C	PRSS12	c.1477A>G	NM_003619.4	NP_003610.2:p.(Arg493Gly)	NC_000004.11:g.119234368T>C	VUS	1 lab	5de4bc74b3
4:149357960 NR3C2 C>T	4	149357960	149357960	C	T	NR3C2	c.53G>A	NM_000901.5	NP_000892.2:p.(Arg18Gln)	NC_000004.11:g.149357960C>T	(Likely) benign	1 lab	5de5efd837
2:211465402 CPS1 A>G	2	211465402	211465402	A	G	CPS1	c.1673A>G	NM_001875.5	NP_001866.2:p.(Asn558Ser)	NC_000002.11:g.211465402A>G	VUS	1 lab	5de63e3165
17:42988057 GFAP G>T	17	42988057	42988057	G	T	GFAP	c.1128-31C>A	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42988057G>T	VUS	1 lab	5de68abcad
19:54782835 LILRB2 C>T	19	54782835	54782835	C	T	LILRB2	c.787G>A	NM_001080978.4	NP_001074447.2:p.(Asp263Asn)	NC_000019.9:g.54782835C>T	(Likely) benign	1 lab	5de968f819
16:1269978 CACNA1H C>T	16	1269978	1269978	C	T	CACNA1H	c.6049-3C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1269978C>T	(Likely) benign	1 lab	5dea933516
16:88926367 TRAPPC2L C>T	16	88926367	88926367	C	T	TRAPPC2L	c.361C>T	NM_001318525.2	NP_001305454.1:p.(Arg121Cys)	NC_000016.9:g.88926367C>T	VUS	1 lab	5deb0f9339
17:2554585 PAFAH1B1 T>G	17	2554585	2554585	T	G	PAFAH1B1	c.32+12971T>G	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2554585T>G	(Likely) benign	1 lab	5debbb021f
11:108178661 ATM A>G	11	108178661	108178661	A	G	ATM	c.5712A>G	NM_000051.4	NP_000042.3:p.(Lys1904=)	NC_000011.9:g.108178661A>G	(Likely) benign	1 lab	5ded2b3e4e
X:53264130 IQSEC2 ATGG>A	X	53264130	53264153	ATGG	A	IQSEC2	c.3735_3737del	NM_001111125.3	NP_001104595.1:p.(His1247del)	NC_000023.10:g.53264151_53264153del	(Likely) benign	1 lab	5ded46c083
22:41574087 EP300 C>T	22	41574087	41574087	C	T	EP300	c.6372C>T	NM_001429.4	NP_001420.2:p.(Val2124=)	NC_000022.10:g.41574087C>T	(Likely) benign	1 lab	5dee59eb8e
12:121987495 KDM2B G>A	12	121987495	121987495	G	A	KDM2B	c.446C>T	NM_032590.5	NP_115979.3:p.(Thr149Met)	NC_000012.11:g.121987495G>A	(Likely) benign	1 lab	5dee9bfac3
17:78291014 RNF213 A>G	17	78291014	78291014	A	G	RNF213	c.2838A>G	NM_001256071.3	NP_001243000.2:p.(Gln946=)	NC_000017.10:g.78291014A>G	(Likely) benign	1 lab	5deedf1803
19:15636257 CYP4F22 G>T	19	15636257	15636257	G	T	CYP4F22	c.110G>T	NM_173483.4	NP_775754.2:p.(Arg37Leu)	NC_000019.9:g.15636257G>T	VUS	1 lab	5df187fc95
X:148037779 AFF2 C>T	X	148037779	148037779	C	T	AFF2	c.2204C>T	NM_002025.4	NP_002016.2:p.(Pro735Leu)	NC_000023.10:g.148037779C>T	VUS	1 lab	5df1e615f7
1:160111174 ATP1A2 G>T	1	160111174	160111174	G	T	ATP1A2				NC_000001.10:g.160111174G>T	(Likely) benign	1 lab	222c912071
4:42487535 ATP8A1 A>G	4	42487535	42487535	A	G	ATP8A1	c.2302T>C	NM_006095.2	NP_006086.1:p.(Cys768Arg)	NC_000004.11:g.42487535A>G	VUS	1 lab	5df2e7602a
X:56292182 KLF8 G>A	X	56292182	56292182	G	A	KLF8	c.646+5G>A	NM_007250.5	NP_009181.2:p.?	NC_000023.10:g.56292182G>A	(Likely) benign	1 lab	5df360c58c
Y:21894058 KDM5D T>C	Y	21894058	21894058	T	C	KDM5D	c.1093-7A>G	NM_004653.5	NP_004644.2:p.?	NC_000024.9:g.21894058T>C	(Likely) benign	1 lab	5df4e8570b
9:136401922 ADAMTSL2 A>G	9	136401922	136401922	A	G	ADAMTSL2	c.88A>G	NM_014694.4	NP_055509.2:p.(Thr30Ala)	NC_000009.11:g.136401922A>G	(Likely) benign	1 lab	5df6756e4d
10:76780901 KAT6B G>A	10	76780901	76780901	G	A	KAT6B	c.2879G>A	NM_012330.4	NP_036462.2:p.(Arg960Gln)	NC_000010.10:g.76780901G>A	VUS	1 lab	5df6b5e15d
11:73814223 C2CD3 A>C	11	73814223	73814223	A	C	C2CD3	c.2533T>G	NM_001286577.2	NP_001273506.1:p.(Ser845Ala)	NC_000011.9:g.73814223A>C	VUS	1 lab	5df92496fc
22:21348435 LZTR1 G>A	22	21348435	21348435	G	A	LZTR1	c.1492G>A	NM_006767.4	NP_006758.2:p.(Gly498Ser)	NC_000022.10:g.21348435G>A	(Likely) benign	1 lab	5df942b591
16:3779329 CREBBP C>A	16	3779329	3779329	C	A	CREBBP	c.5719G>T	NM_004380.3	NP_004371.2:p.(Ala1907Ser)	NC_000016.9:g.3779329C>A	VUS	1 lab	5df989be0a
17:42949807 EFTUD2 C>T	17	42949807	42949807	C	T	EFTUD2	c.994+7G>A	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42949807C>T	(Likely) benign	1 lab	5dfb5aad9c
1:116206388 VANGL1 G>A	1	116206388	116206388	G	A	VANGL1	c.311G>A	NM_138959.3	NP_620409.1:p.(Gly104Glu)	NC_000001.10:g.116206388G>A	VUS	1 lab	5dfcac844c
7:156518137 LMBR1 T>C	7	156518137	156518137	T	C	LMBR1	c.1150A>G	NM_022458.4	NP_071903.2:p.(Met384Val)	NC_000007.13:g.156518137T>C	VUS	1 lab	5dfcf0ee5e
1:120458303 NOTCH2 A>G	1	120458303	120458303	A	G	NOTCH2	c.7042T>C	NM_024408.4	NP_077719.2:p.(Leu2348=)	NC_000001.10:g.120458303A>G	(Likely) benign	1 lab	222ca00066
19:53057143 ZNF808 G>A	19	53057143	53057143	G	A	ZNF808	c.974G>A	NM_001039886.4	NP_001034975.2:p.(Arg325His)	NC_000019.9:g.53057143G>A	VUS	1 lab	5dfe2fa7e5
9:35737342 GBA2 G>A	9	35737342	35737342	G	A	GBA2	c.2608C>T	NM_020944.3	NP_065995.1:p.(Arg870Ter)	NC_000009.11:g.35737342G>A	(Likely) pathogenic	1 lab	5dfe8a80d4
6:121563400 TBC1D32 C>T	6	121563400	121563400	C	T	TBC1D32	c.2104G>A	NM_152730.6	NP_689943.4:p.(Ala702Thr)	NC_000006.11:g.121563400C>T	VUS	1 lab	5dff684a4c
16:90106923 DRC4 C>T	16	90106923	90106923	C	T	DRC4	c.1221+6C>T	NM_001481.3	NP_001472.1:p.?	NC_000016.9:g.90106923C>T	(Likely) benign	1 lab	5e001b19be
18:56056414 NEDD4L G>C	18	56056414	56056414	G	C	NEDD4L	c.2645G>C	NM_001144967.3	NP_001138439.1:p.(Trp882Ser)	NC_000018.9:g.56056414G>C	(Likely) benign	1 lab	5e006c9096
1:35476600 ZMYM6 G>T	1	35476600	35476600	G	T	ZMYM6	c.1100C>A	NM_007167.4	NP_009098.3:p.(Ala367Glu)	NC_000001.10:g.35476600G>T	(Likely) benign	1 lab	5e00aa0d1e
2:206991305 NDUFS1 G>A	2	206991305	206991305	G	A	NDUFS1	c.2050C>T	NM_005006.7	NP_004997.4:p.(Leu684Phe)	NC_000002.11:g.206991305G>A	VUS	1 lab	5e00d060a4
15:99434540 IGF1R C>T	15	99434540	99434540	C	T	IGF1R	c.641-14C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99434540C>T	(Likely) benign	1 lab	5e0243a7ab
3:121415540 GOLGB1 T>C	3	121415540	121415540	T	C	GOLGB1	c.3830A>G	NM_001366282.2	NP_001353211.1:p.(Glu1277Gly)	NC_000003.11:g.121415540T>C	(Likely) benign	1 lab	5e02df0e4b
14:102505060 DYNC1H1 C>T	14	102505060	102505060	C	T	DYNC1H1	c.11081C>T	NM_001376.5	NP_001367.2:p.(Ser3694Phe)	NC_000014.8:g.102505060C>T	(Likely) pathogenic	1 lab	5e0496b109
3:150834162 MED12L A>G	3	150834162	150834162	A	G	MED12L	c.137A>G	NM_001393769.1	NP_001380698.1:p.(Asn46Ser)	NC_000003.11:g.150834162A>G	(Likely) benign	1 lab	5e055716de
10:127462646 MMP21 A>G	10	127462646	127462646	A	G	MMP21	c.451T>C	NM_147191.1	NP_671724.1:p.(Ser151Pro)	NC_000010.10:g.127462646A>G	VUS	1 lab	5e061f1413
8:101225627 SPAG1 C>G	8	101225627	101225627	C	G	SPAG1	c.1406C>G	NM_003114.5	NP_003105.2:p.(Ser469Trp)	NC_000008.10:g.101225627C>G	VUS	1 lab	5e06455f96
14:105818791 PACS2 CCTT>C	14	105818791	105818796	CCTT	C	PACS2	c.287_289del	NM_001100913.3	NP_001094383.2:p.(Phe96del)	NC_000014.8:g.105818794_105818796del	VUS	1 lab	5e06f776aa
2:170030501 LRP2 T>C	2	170030501	170030501	T	C	LRP2	c.10942A>G	NM_004525.3	NP_004516.2:p.(Ile3648Val)	NC_000002.11:g.170030501T>C	(Likely) benign	1 lab	5e070b402f
3:25502752 RARB C>T	3	25502752	25502752	C	T	RARB	c.226C>T	NM_000965.5	NP_000956.2:p.(Arg76Ter)	NC_000003.11:g.25502752C>T	(Likely) pathogenic	1 lab	5e071fce0d
1:156106148 LMNA C>T	1	156106148	156106148	C	T	LMNA	c.1301C>T	NM_170707.4	NP_733821.1:p.(Ala434Val)	NC_000001.10:g.156106148C>T	VUS	1 lab	5e07cf4376
18:29598905 RNF125 G>A	18	29598905	29598905	G	A	RNF125	c.79G>A	NM_017831.4	NP_060301.2:p.(Asp27Asn)	NC_000018.9:g.29598905G>A	(Likely) benign	1 lab	5e07f4296d
8:92082616 OTUD6B G>T	8	92082616	92082616	G	T	OTUD6B	c.4G>T	NM_016023.5	NP_057107.4:p.(Glu2Ter)	NC_000008.10:g.92082616G>T	(Likely) pathogenic	1 lab	5e080cfa60
15:90216584 PLIN1 C>A	15	90216584	90216584	C	A	PLIN1	c.107G>T	NM_002666.5	NP_002657.3:p.(Cys36Phe)	NC_000015.9:g.90216584C>A	(Likely) benign	1 lab	5e0afb0157
19:39989862 DLL3 A>T	19	39989862	39989862	A	T	DLL3	c.100A>T	NM_203486.3	NP_982353.1:p.(Ile34Phe)	NC_000019.9:g.39989862A>T	(Likely) benign	1 lab	5e0c204f60
15:89382267 ACAN C>A	15	89382267	89382267	C	A	ACAN	c.444C>A	NM_001369268.1	NP_001356197.1:p.(Val148=)	NC_000015.9:g.89382267C>A	(Likely) benign	1 lab	5e0d2d2f9a
X:144903969 SLITRK2 G>T	X	144903969	144903969	G	T	SLITRK2	c.26G>T	NM_032539.5	NP_115928.1:p.(Ser9Ile)	NC_000023.10:g.144903969G>T	VUS	1 lab	5e0e4e9dff
11:129755483 NFRKB G>A	11	129755483	129755483	G	A	NFRKB	c.487C>T	NM_001143835.2	NP_001137307.1:p.(Arg163Trp)	NC_000011.9:g.129755483G>A	(Likely) benign	1 lab	5e0f8bc05a
7:158449018 NCAPG2 G>A	7	158449018	158449018	G	A	NCAPG2	c.2322C>T	NM_017760.7	NP_060230.5:p.(Arg774=)	NC_000007.13:g.158449018G>A	VUS	1 lab	5e0fe51e19
16:20948167 DNAH3 T>C	16	20948167	20948167	T	C	DNAH3	c.11525A>G	NM_001347886.2	NP_001334815.1:p.(Lys3842Arg)	NC_000016.9:g.20948167T>C	(Likely) benign	1 lab	5e106034f4
4:170483048 NEK1 A>AT	4	170483048	170483049	A	AT	NEK1	c.1081-7dup	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170483049dup	(Likely) benign	1 lab	5e10ad6359
1:232629321 SIPA1L2 C>A	1	232629321	232629321	C	A	SIPA1L2	c.1569G>T	NM_020808.5	NP_065859.3:p.(Glu523Asp)	NC_000001.10:g.232629321C>A	(Likely) benign	1 lab	5e1169446b
5:218472 SDHA T>A	5	218472	218472	T	A	SDHA	c.2T>A	NM_004168.4	NP_004159.2:p.(Met1?)	NC_000005.9:g.218472T>A	(Likely) pathogenic	1 lab	5e11970b38
2:219920216 IHH C>T	2	219920216	219920216	C	T	IHH	c.949G>A	NM_002181.4	NP_002172.2:p.(Val317Met)	NC_000002.11:g.219920216C>T	VUS	1 lab	5e1369d454
3:126219637 UROC1 G>A	3	126219637	126219637	G	A	UROC1	c.1046C>T	NM_144639.3	NP_653240.1:p.(Pro349Leu)	NC_000003.11:g.126219637G>A	VUS	1 lab	5e145ead11
21:43327197 C2CD2 G>A	21	43327197	43327197	G	A	C2CD2	c.1222C>T	NM_015500.2	NP_056315.1:p.(Arg408Cys)	NC_000021.8:g.43327197G>A	(Likely) benign	1 lab	5e16181e5e
9:35800848 NPR2 T>C	9	35800848	35800848	T	C	NPR2	c.1351+10T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800848T>C	VUS	1 lab	5e171147f9
12:133235865 POLE T>TGGGGGGAGCCCTCACCTCTCCGTGAC	12	133235865	133235891	T	TGGGGGGAGCCCTCACCTCTCCGTGAC	POLE	c.3265_3275+15dup	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133235866_133235891dup	(Likely) benign	1 lab	5e17f4bb97
5:176562283 NSD1 C>G	5	176562283	176562283	C	G	NSD1	c.179C>G	NM_022455.5	NP_071900.2:p.(Ala60Gly)	NC_000005.9:g.176562283C>G	VUS	1 lab	5e18008de5
16:89351594 ANKRD11 AT>A	16	89351594	89351601	AT	A	ANKRD11	c.1355del	NM_013275.6	NP_037407.4:p.(Asn452IlefsTer3)	NC_000016.9:g.89351601del	(Likely) pathogenic	1 lab	5e187e43b7
19:4318405 FSD1 G>A	19	4318405	4318405	G	A	FSD1	c.862G>A	NM_024333.3	NP_077309.1:p.(Val288Met)	NC_000019.9:g.4318405G>A	VUS	1 lab	605a314d9b
6:87967984 ZNF292 T>G	6	87967984	87967984	T	G	ZNF292	c.4637T>G	NM_015021.3	NP_055836.1:p.(Leu1546Trp)	NC_000006.11:g.87967984T>G	VUS	1 lab	5e1903d6ad
6:1611085 FOXC1 C>T	6	1611085	1611085	C	T	FOXC1	c.405C>T	NM_001453.3	NP_001444.2:p.(Cys135=)	NC_000006.11:g.1611085C>T	(Likely) benign	1 lab	5e1934e234
12:109926450 UBE3B C>T	12	109926450	109926450	C	T	UBE3B	c.521C>T	NM_130466.4	NP_569733.2:p.(Thr174Met)	NC_000012.11:g.109926450C>T	VUS	1 lab	5e1a4fbe3b
16:2816074 SRRM2 C>G	16	2816074	2816074	C	G	SRRM2	c.5545C>G	NM_016333.4	NP_057417.3:p.(Arg1849Gly)	NC_000016.9:g.2816074C>G	VUS	1 lab	5e1b553bbe
21:46927485 COL18A1 G>A	21	46927485	46927485	G	A	COL18A1	c.3227G>A	NM_001379500.1	NP_001366429.1:p.(Arg1076Gln)	NC_000021.8:g.46927485G>A	(Likely) benign	1 lab	5e1dc2dc90
2:152390727 NEB A>T	2	152390727	152390727	A	T	NEB	c.21313-667T>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152390727A>T	(Likely) pathogenic	1 lab	5e1e9fef02
2:20647428 RHOB C>T	2	20647428	20647428	C	T	RHOB	c.202C>T	NM_004040.4	NP_004031.1:p.(Arg68Cys)	NC_000002.11:g.20647428C>T	VUS	1 lab	5e1ff38e89
10:64973852 JMJD1C C>T	10	64973852	64973852	C	T	JMJD1C	c.2075G>A	NM_032776.3	NP_116165.1:p.(Arg692Gln)	NC_000010.10:g.64973852C>T	VUS	1 lab	5e216d8488
9:77563117 C9orf40 A>T	9	77563117	77563117	A	T	C9orf40	c.432T>A	NM_017998.3	NP_060468.2:p.(Asn144Lys)	NC_000009.11:g.77563117A>T	(Likely) benign	1 lab	5e21f8cbfc
2:179407011 TTN A>G	2	179407011	179407011	A	G	TTN	c.97472T>C	NM_001267550.2	NP_001254479.2:p.(Ile32491Thr)	NC_000002.11:g.179407011A>G	VUS	1 lab	5e2277d9db
X:131212103 FRMD7 T>G	X	131212103	131212103	T	G	FRMD7	c.1942A>C	NM_194277.3	NP_919253.1:p.(Ser648Arg)	NC_000023.10:g.131212103T>G	(Likely) benign	1 lab	5e23ade054
19:49335923 HSD17B14 G>A	19	49335923	49335923	G	A	HSD17B14	c.277C>T	NM_016246.3	NP_057330.2:p.(His93Tyr)	NC_000019.9:g.49335923G>A	VUS	1 lab	5e23d190da
17:60685402 TLK2 C>T	17	60685402	60685402	C	T	TLK2	c.1972C>T	NM_006852.6	NP_006843.2:p.(Pro658Ser)	NC_000017.10:g.60685402C>T	VUS	1 lab	21236fa185
X:63563601 MTMR8 C>T	X	63563601	63563601	C	T	MTMR8	c.866-1G>A	NM_017677.4	NP_060147.2:p.?	NC_000023.10:g.63563601C>T	(Likely) pathogenic	1 lab	22316dd88f
1:119530214 TBX15 C>A	1	119530214	119530214	C	A	TBX15	c.205G>T	NM_001330677.2	NP_001317606.1:p.(Asp69Tyr)	NC_000001.10:g.119530214C>A	VUS	1 lab	5e26e0e0f4
10:123845650 TACC2 C>G	10	123845650	123845650	C	G	TACC2	c.3635C>G	NM_206862.4	NP_996744.4:p.(Thr1212Arg)	NC_000010.10:g.123845650C>G	(Likely) benign	1 lab	5e2946c322
1:22214536 HSPG2 T>A	1	22214536	22214536	T	A	HSPG2	c.598A>T	NM_005529.7	NP_005520.4:p.(Thr200Ser)	NC_000001.10:g.22214536T>A	(Likely) benign	1 lab	5e29ccb311
8:11607622 GATA4 C>T	8	11607622	11607622	C	T	GATA4	c.789C>T	NM_001308093.3	NP_001295022.1:p.(Ser263=)	NC_000008.10:g.11607622C>T	(Likely) benign	1 lab	5e2caaa8dc
16:68391075 PRMT7 C>G	16	68391075	68391075	C	G	PRMT7	c.2027C>G	NM_019023.5	NP_061896.1:p.(Pro676Arg)	NC_000016.9:g.68391075C>G	VUS	1 lab	5e2d23f455
21:30714862 BACH1 A>G	21	30714862	30714862	A	G	BACH1	c.1919A>G	NM_001186.4	NP_001177.1:p.(Lys640Arg)	NC_000021.8:g.30714862A>G	(Likely) benign	1 lab	5e2d794e72
14:35593137 PRORP C>T	14	35593137	35593137	C	T	PRORP	c.686C>T	NM_014672.4	NP_055487.2:p.(Ala229Val)	NC_000014.8:g.35593137C>T	(Likely) benign	1 lab	5e2de90d85
16:58749964 GOT2 G>A	16	58749964	58749964	G	A	GOT2	c.973C>T	NM_002080.4	NP_002071.2:p.(Arg325Trp)	NC_000016.9:g.58749964G>A	VUS	1 lab	5e2e2abbfa
17:1557098 PRPF8 A>C	17	1557098	1557098	A	C	PRPF8	c.6200T>G	NM_006445.4	NP_006436.3:p.(Phe2067Cys)	NC_000017.10:g.1557098A>C	VUS	1 lab	5e2edc680d
6:45390502 RUNX2 T>TGCGGCG	6	45390502	45390519	T	TGCGGCG	RUNX2	c.243_248dup	NM_001024630.4	NP_001019801.3:p.(Ala88_Ala89dup)	NC_000006.11:g.45390514_45390519dup	VUS	1 lab	5e2f0b32bf
17:17700373 RAI1 G>A	17	17700373	17700373	G	A	RAI1	c.4111G>A	NM_030665.4	NP_109590.3:p.(Ala1371Thr)	NC_000017.10:g.17700373G>A	(Likely) benign	1 lab	5e2fbbf904
19:4498021 HDGFL2 G>A	19	4498021	4498021	G	A	HDGFL2	c.1395G>A	NM_001001520.3	NP_001001520.1:p.(Lys465=)	NC_000019.9:g.4498021G>A	VUS	1 lab	5e317a570d
17:10247167 MYH13 G>A	17	10247167	10247167	G	A	MYH13	c.1844C>T	NM_003802.3	NP_003793.2:p.(Ser615Leu)	NC_000017.10:g.10247167G>A	VUS	1 lab	5e317ec47e
4:2087401 POLN CA>C	4	2087401	2087407	CA	C	POLN	c.2135del	NM_181808.4	NP_861524.2:p.(Leu712CysfsTer53)	NC_000004.11:g.2087407del	VUS	1 lab	5e320cd262
5:36227623 NADK2 A>T	5	36227623	36227623	A	T	NADK2	c.345T>A	NM_001085411.3	NP_001078880.1:p.(His115Gln)	NC_000005.9:g.36227623A>T	VUS	1 lab	5e35a315cb
4:15534914 CC2D2A T>C	4	15534914	15534914	T	C	CC2D2A	c.1565T>C	NM_001378615.1	NP_001365544.1:p.(Phe522Ser)	NC_000004.11:g.15534914T>C	VUS	1 lab	5e36144b05
12:121431404 HNF1A G>A	12	121431404	121431404	G	A	HNF1A	c.608G>A	NM_000545.8	NP_000536.6:p.(Arg203His)	NC_000012.11:g.121431404G>A	(Likely) pathogenic	1 lab	5e38397bba
17:71202288 COG1 C>G	17	71202288	71202288	C	G	COG1	c.2511-5C>G	NM_018714.3	NP_061184.1:p.?	NC_000017.10:g.71202288C>G	(Likely) benign	1 lab	5e3905417f
1:27106208 ARID1A C>T	1	27106208	27106208	C	T	ARID1A	c.5819C>T	NM_006015.6	NP_006006.3:p.(Pro1940Leu)	NC_000001.10:g.27106208C>T	(Likely) benign	1 lab	5e3a1739b4
15:90208918 PLIN1 G>A	15	90208918	90208918	G	A	PLIN1	c.1465C>T	NM_002666.5	NP_002657.3:p.(Arg489Cys)	NC_000015.9:g.90208918G>A	VUS	1 lab	5e3bbf246c
8:144873405 SCRIB T>A	8	144873405	144873405	T	A	SCRIB	c.4896A>T	NM_182706.5	NP_874365.3:p.(Glu1632Asp)	NC_000008.10:g.144873405T>A	(Likely) benign	1 lab	5e3f8705f2
19:48128249 BICRA CT>C	19	48128249	48128274	CT	C	BICRA	c.-108+15849del	NM_001394372.1	NP_001381301.1:p.?	NC_000019.9:g.48128274del	(Likely) benign	1 lab	5e3fcba1dc
21:34907023 GART C>A	21	34907023	34907023	C	A	GART	c.278G>T	NM_000819.5	NP_000810.1:p.(Cys93Phe)	NC_000021.8:g.34907023C>A	(Likely) benign	1 lab	5e4103c02d
16:30977321 SETD1A C>T	16	30977321	30977321	C	T	SETD1A	c.2119C>T	NM_014712.3	NP_055527.1:p.(Pro707Ser)	NC_000016.9:g.30977321C>T	(Likely) benign	1 lab	212570552e
17:7751777 KDM6B C>A	17	7751777	7751777	C	A	KDM6B	c.2171C>A	NM_001348716.2	NP_001335645.1:p.(Pro724Gln)	NC_000017.10:g.7751777C>A	(Likely) benign	1 lab	5e42f3ace8
1:153659131 NPR1 G>A	1	153659131	153659131	G	A	NPR1	c.1768G>A	NM_000906.4	NP_000897.3:p.(Val590Met)	NC_000001.10:g.153659131G>A	VUS	1 lab	5e43715eba
16:2154480 PKD1 G>A	16	2154480	2154480	G	A	PKD1	c.8161+19C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2154480G>A	(Likely) benign	1 lab	5e457bf571
1:156108272 LMNA T>C	1	156108272	156108272	T	C	LMNA	c.1699-7T>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156108272T>C	(Likely) benign	1 lab	5e45f15b56
19:55086986 LILRA2 G>A	19	55086986	55086986	G	A	LILRA2	c.919G>A	NM_001130917.3	NP_001124389.2:p.(Ala307Thr)	NC_000019.9:g.55086986G>A	(Likely) benign	1 lab	5e497ff3f8
1:201184195 IGFN1 T>G	1	201184195	201184195	T	G	IGFN1	c.8908T>G	NM_001164586.2	NP_001158058.1:p.(Phe2970Val)	NC_000001.10:g.201184195T>G	VUS	1 lab	5e49897b12
1:173795857 DARS2 T>TG	1	173795857	173795858	T	TG	DARS2	c.161dup	NM_018122.5	NP_060592.2:p.(Cys54TrpfsTer45)	NC_000001.10:g.173795858dup	VUS	1 lab	5e49bc6862
4:85724466 WDFY3 C>T	4	85724466	85724466	C	T	WDFY3	c.2584G>A	NM_014991.6	NP_055806.2:p.(Val862Ile)	NC_000004.11:g.85724466C>T	(Likely) benign	1 lab	5e4a813521
5:179201463 MAML1 C>T	5	179201463	179201463	C	T	MAML1	c.2636C>T	NM_014757.5	NP_055572.1:p.(Pro879Leu)	NC_000005.9:g.179201463C>T	VUS	1 lab	212a3126ab
14:96730141 BDKRB1 C>T	14	96730141	96730141	C	T	BDKRB1	c.122C>T	NM_000710.4	NP_000701.2:p.(Pro41Leu)	NC_000014.8:g.96730141C>T	VUS	1 lab	5e4bf3db45
14:74989495 LTBP2 G>T	14	74989495	74989495	G	T	LTBP2	c.2657C>A	NM_000428.3	NP_000419.1:p.(Thr886Lys)	NC_000014.8:g.74989495G>T	(Likely) benign	1 lab	5e4d3d318d
12:121432068 HNF1A G>C	12	121432068	121432068	G	C	HNF1A	c.815G>C	NM_000545.8	NP_000536.6:p.(Arg272Pro)	NC_000012.11:g.121432068G>C	(Likely) pathogenic	1 lab	5e4f942569
17:80009524 RFNG G>A	17	80009524	80009524	G	A	RFNG	c.119C>T	NM_002917.2	NP_002908.1:p.(Ala40Val)	NC_000017.10:g.80009524G>A	(Likely) benign	1 lab	5e4fee59c7
11:18428667 LDHA C>T	11	18428667	18428667	C	T	LDHA	c.838C>T	NM_005566.4	NP_005557.1:p.(Leu280Phe)	NC_000011.9:g.18428667C>T	(Likely) benign	1 lab	5e504d02c7
8:24300035 ADAM7 G>T	8	24300035	24300035	G	T	ADAM7	c.102G>T	NM_003817.4	NP_003808.2:p.(Lys34Asn)	NC_000008.10:g.24300035G>T	(Likely) benign	1 lab	5e50b163e3
2:220435333 OBSL1 C>T	2	220435333	220435333	C	T	OBSL1	c.622G>A	NM_015311.3	NP_056126.1:p.(Val208Met)	NC_000002.11:g.220435333C>T	(Likely) benign	1 lab	5e50f615d0
22:22869720 ZNF280A A>G	22	22869720	22869720	A	G	ZNF280A	c.235T>C	NM_080740.5	NP_542778.2:p.(Phe79Leu)	NC_000022.10:g.22869720A>G	(Likely) benign	1 lab	5e552a94f6
15:66777363 MAP2K1 G>A	15	66777363	66777363	G	A	MAP2K1	c.729G>A	NM_002755.4	NP_002746.1:p.(Gln243=)	NC_000015.9:g.66777363G>A	(Likely) benign	1 lab	5e553b0059
19:51840597 VSIG10L C>T	19	51840597	51840597	C	T	VSIG10L	c.2200G>A	NM_001163922.3	NP_001157394.1:p.(Val734Met)	NC_000019.9:g.51840597C>T	(Likely) benign	1 lab	5e55cf9b79
5:66426070 MAST4 G>A	5	66426070	66426070	G	A	MAST4	c.1778G>A	NM_001164664.2	NP_001158136.1:p.(Arg593Gln)	NC_000005.9:g.66426070G>A	VUS	1 lab	5e56810164
22:28192816 MN1 G>C	22	28192816	28192816	G	C	MN1	c.3716C>G	NM_002430.3	NP_002421.3:p.(Ala1239Gly)	NC_000022.10:g.28192816G>C	VUS	1 lab	5e5a33924c
19:14513420 ADGRE5 G>T	19	14513420	14513420	G	T	ADGRE5	c.1195G>T	NM_078481.4	NP_510966.1:p.(Ala399Ser)	NC_000019.9:g.14513420G>T	(Likely) benign	1 lab	5e65e12ac8
1:159141584 CADM3 T>C	1	159141584	159141584	T	C	CADM3	c.29T>C	NM_001127173.3	NP_001120645.1:p.(Leu10Pro)	NC_000001.10:g.159141584T>C	VUS	1 lab	5e69186c9f
7:73458215 ELN G>T	7	73458215	73458215	G	T	ELN	c.434G>T	NM_000501.4	NP_000492.2:p.(Gly145Val)	NC_000007.13:g.73458215G>T	VUS	1 lab	5e6b1b1db8
4:3076603 HTT C>CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	HTT	c.78_110dup	NM_001388492.1	NP_001375421.1:p.(Gln28_Gln38dup)	NC_000004.11:g.3076630_3076662dup	VUS	1 lab	5e5b22e851
16:88792737 PIEZO1 A>G	16	88792737	88792737	A	G	PIEZO1	c.3923T>C	NM_001142864.4	NP_001136336.2:p.(Leu1308Pro)	NC_000016.9:g.88792737A>G	VUS	1 lab	5e5d4247b2
22:19178854 CLTCL1 G>A	22	19178854	19178854	G	A	CLTCL1	c.4285C>T	NM_007098.4	NP_009029.3:p.(Arg1429Trp)	NC_000022.10:g.19178854G>A	VUS	1 lab	5e5e4a0d0e
1:52861899 ORC1 T>G	1	52861899	52861899	T	G	ORC1	c.540A>C	NM_004153.4	NP_004144.2:p.(Gln180His)	NC_000001.10:g.52861899T>G	(Likely) benign	1 lab	5e5e91f283
5:127654563 FBN2 G>C	5	127654563	127654563	G	C	FBN2	c.4594+8C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654563G>C	VUS	1 lab	5e5eca1ccb
5:109026247 MAN2A1 C>A	5	109026247	109026247	C	A	MAN2A1	c.129C>A	NM_002372.4	NP_002363.2:p.(Phe43Leu)	NC_000005.9:g.109026247C>A	(Likely) benign	1 lab	5e5eda9741
11:14504658 COPB1 T>C	11	14504658	14504658	T	C	COPB1	c.877A>G	NM_001144061.2	NP_001137533.1:p.(Ser293Gly)	NC_000011.9:g.14504658T>C	VUS	1 lab	5e6012b2a3
7:40037149 CDK13 G>A	7	40037149	40037149	G	A	CDK13	c.1928G>A	NM_003718.5	NP_003709.3:p.(Arg643Gln)	NC_000007.13:g.40037149G>A	VUS	1 lab	5e60da11c5
16:29675613 SPN CAT>C	16	29675613	29675615	CAT	C	SPN	c.565_566del	NM_003123.6	NP_003114.1:p.(Met189GlyfsTer3)	NC_000016.9:g.29675614_29675615del	VUS	1 lab	5e6185bcd3
11:62291700 AHNAK T>C	11	62291700	62291700	T	C	AHNAK	c.10189A>G	NM_001620.3	NP_001611.1:p.(Lys3397Glu)	NC_000011.9:g.62291700T>C	VUS	1 lab	5e623dab34
10:50681018 ERCC6 G>T	10	50681018	50681018	G	T	ERCC6	c.2766C>A	NM_000124.4	NP_000115.1:p.(Asn922Lys)	NC_000010.10:g.50681018G>T	VUS	1 lab	5e62a19dc3
X:83124910 CYLC1 C>G	X	83124910	83124910	C	G	CYLC1	c.55C>G	NM_021118.3	NP_066941.1:p.(Pro19Ala)	NC_000023.10:g.83124910C>G	VUS	1 lab	5e6472ac3f
9:74300311 CEMIP2 T>TA	9	74300311	74300329	T	TA	CEMIP2	c.3956-3dup	NM_013390.3	NP_037522.1:p.?	NC_000009.11:g.74300329dup	(Likely) benign	1 lab	5e68f5f5d6
19:50376365 AKT1S1 T>C	19	50376365	50376365	T	C	AKT1S1	c.188A>G	NM_001098633.4	NP_001092103.1:p.(His63Arg)	NC_000019.9:g.50376365T>C	VUS	1 lab	5e6a51f94c
21:47417383 COL6A1 C>T	21	47417383	47417383	C	T	COL6A1	c.1447C>T	NM_001848.3	NP_001839.2:p.(Pro483Ser)	NC_000021.8:g.47417383C>T	VUS	1 lab	5e6cc31fc0
X:46493387 SLC9A7 G>A	X	46493387	46493387	G	A	SLC9A7	c.1676+1637C>T	NM_001257291.2	NP_001244220.1:p.?	NC_000023.10:g.46493387G>A	(Likely) benign	1 lab	5e6e1ba07a
9:135945966 CEL AC>A	9	135945966	135945971	AC	A	CEL	c.1410del	NM_001807.6	NP_001798.3:p.(Thr471ArgfsTer14)	NC_000009.11:g.135945971del	(Likely) benign	1 lab	5e6fba9226
12:7044755 ATN1 G>T	12	7044755	7044755	G	T	ATN1	c.325G>T	NM_001940.4	NP_001931.2:p.(Asp109Tyr)	NC_000012.11:g.7044755G>T	VUS	1 lab	5e700f9908
14:36158012 RALGAPA1 C>T	14	36158012	36158012	C	T	RALGAPA1	c.3605G>A	NM_001346249.2	NP_001333178.1:p.(Ser1202Asn)	NC_000014.8:g.36158012C>T	VUS	1 lab	5e701a3b2e
12:132512032 EP400 G>A	12	132512032	132512032	G	A	EP400	c.5065G>A	NM_015409.5	NP_056224.3:p.(Gly1689Arg)	NC_000012.11:g.132512032G>A	VUS	1 lab	5e72134627
6:42713554 TBCC C>A	6	42713554	42713554	C	A	TBCC	c.258G>T	NM_003192.3	NP_003183.2:p.(Glu86Asp)	NC_000006.11:g.42713554C>A	(Likely) benign	1 lab	5e72af9a37
8:145009069 PLEC C>T	8	145009069	145009069	C	T	PLEC	c.854G>A	NM_201384.3	NP_958786.1:p.(Arg285Gln)	NC_000008.10:g.145009069C>T	(Likely) benign	1 lab	5e73ec6e7f
2:48049358 FBXO11 A>G	2	48049358	48049358	A	G	FBXO11	c.1701T>C	NM_001190274.2	NP_001177203.1:p.(Tyr567=)	NC_000002.11:g.48049358A>G	(Likely) benign	1 lab	5e7411060a
3:9483420 SETD5 C>G	3	9483420	9483420	C	G	SETD5	c.954C>G	NM_001080517.3	NP_001073986.1:p.(Phe318Leu)	NC_000003.11:g.9483420C>G	VUS	1 lab	5e750558a8
10:79554659 DLG5 G>C	10	79554659	79554659	G	C	DLG5	c.5494C>G	NM_004747.4	NP_004738.3:p.(His1832Asp)	NC_000010.10:g.79554659G>C	VUS	1 lab	5e77c9d413
6:101053458 ASCC3 G>T	6	101053458	101053458	G	T	ASCC3	c.5163C>A	NM_006828.4	NP_006819.2:p.(Phe1721Leu)	NC_000006.11:g.101053458G>T	VUS	1 lab	5e793c1c31
13:23912938 SACS T>C	13	23912938	23912938	T	C	SACS	c.5077A>G	NM_014363.6	NP_055178.3:p.(Met1693Val)	NC_000013.10:g.23912938T>C	VUS	1 lab	5e7a0af50b
10:89624297 PTEN A>C	10	89624297	89624297	A	C	PTEN	c.71A>C	NM_000314.8	NP_000305.3:p.(Asp24Ala)	NC_000010.10:g.89624297A>C	VUS	1 lab	5e7df5ad0a
11:66453466 SPTBN2 G>C	11	66453466	66453466	G	C	SPTBN2	c.7049C>G	NM_006946.4	NP_008877.2:p.(Thr2350Ser)	NC_000011.9:g.66453466G>C	(Likely) benign	1 lab	5e7f997cbf
7:66456225 SBDS G>A	7	66456225	66456225	G	A	SBDS	c.523C>T	NM_016038.4	NP_057122.2:p.(Arg175Trp)	NC_000007.13:g.66456225G>A	(Likely) pathogenic	1 lab	5e7fa9944e
16:4405326 CORO7 G>T	16	4405326	4405326	G	T	CORO7	c.2733C>A	NM_024535.5	NP_078811.3:p.(Leu911=)	NC_000016.9:g.4405326G>T	(Likely) benign	1 lab	5e81c45971
4:122734375 EXOSC9 A>AC	4	122734375	122734380	A	AC	EXOSC9	c.828-9dup	NM_005033.3	NP_005024.2:p.?	NC_000004.11:g.122734380dup	(Likely) benign	1 lab	5e81c74521
8:145737400 RECQL4 C>T	8	145737400	145737400	C	T	RECQL4	c.3287G>A	NM_004260.4	NP_004251.4:p.(Arg1096His)	NC_000008.10:g.145737400C>T	VUS	1 lab	5e81f48a8e
22:51143454 SHANK3 T>C	22	51143454	51143454	T	C	SHANK3	c.2184T>C	NM_001372044.2	NP_001358973.1:p.(Gly728=)	NC_000022.10:g.51143454T>C	(Likely) benign	1 lab	5e831099a9
3:62467521 CADPS T>A	3	62467521	62467521	T	A	CADPS	c.3050A>T	NM_003716.4	NP_003707.2:p.(Asn1017Ile)	NC_000003.11:g.62467521T>A	VUS	1 lab	5e8328fdd6
16:70712285 MTSS2 T>C	16	70712285	70712285	T	C	MTSS2	c.494A>G	NM_138383.3	NP_612392.1:p.(Asp165Gly)	NC_000016.9:g.70712285T>C	(Likely) benign	1 lab	5e843af198
9:90588943 CDK20 T>G	9	90588943	90588943	T	G	CDK20	c.83A>C	NM_001039803.3	NP_001034892.1:p.(Glu28Ala)	NC_000009.11:g.90588943T>G	VUS	1 lab	5e863ae227
8:144995188 PLEC G>A	8	144995188	144995188	G	A	PLEC	c.8801C>T	NM_201384.3	NP_958786.1:p.(Thr2934Met)	NC_000008.10:g.144995188G>A	VUS	1 lab	5e8649687c
1:154558306 ADAR T>C	1	154558306	154558306	T	C	ADAR	c.3238A>G	NM_001111.5	NP_001102.3:p.(Ile1080Val)	NC_000001.10:g.154558306T>C	(Likely) benign	1 lab	5e86972c4f
2:152474001 NEB AAGAG>A	2	152474001	152474018	AAGAG	A	NEB	c.11077-23_11077-20del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474015_152474018del	(Likely) benign	1 lab	5e876a5a8d
6:31931191 SKIC2 C>T	6	31931191	31931191	C	T	SKIC2	c.1405C>T	NM_006929.5	NP_008860.4:p.(Arg469Trp)	NC_000006.11:g.31931191C>T	VUS	1 lab	5e890fd240
2:219925039 IHH G>A	2	219925039	219925039	G	A	IHH	c.151C>T	NM_002181.4	NP_002172.2:p.(Gln51Ter)	NC_000002.11:g.219925039G>A	(Likely) pathogenic	1 lab	5e8bab673a
1:43881642 SZT2 G>T	1	43881642	43881642	G	T	SZT2	c.642G>T	NM_001365999.1	NP_001352928.1:p.(Gln214His)	NC_000001.10:g.43881642G>T	(Likely) benign	1 lab	5e8bdcbebd
15:89400971 ACAN G>T	15	89400971	89400971	G	T	ACAN	c.5155G>T	NM_001369268.1	NP_001356197.1:p.(Ala1719Ser)	NC_000015.9:g.89400971G>T	(Likely) benign	1 lab	5e8d0d2b6c
6:30630791 DHX16 G>A	6	30630791	30630791	G	A	DHX16	c.1325C>T	NM_003587.5	NP_003578.2:p.(Thr442Ile)	NC_000006.11:g.30630791G>A	VUS	1 lab	5e8df38dc6
7:37956043 SFRP4 G>C	7	37956043	37956043	G	C	SFRP4	c.97C>G	NM_003014.4	NP_003005.2:p.(Arg33Gly)	NC_000007.13:g.37956043G>C	VUS	1 lab	5e8eac3b70
X:100630199 BTK A>G	X	100630199	100630199	A	G	BTK	c.74T>C	NM_000061.2	NP_000052.1:p.(Phe25Ser)	NC_000023.10:g.100630199A>G	(Likely) pathogenic	1 lab	35f1662ca0
22:40762518 ADSL T>C	22	40762518	40762518	T	C	ADSL	c.1447T>C	NM_000026.4	NP_000017.1:p.(Cys483Arg)	NC_000022.10:g.40762518T>C	VUS	1 lab	5e8f6c645e
7:77824376 MAGI2 A>G	7	77824376	77824376	A	G	MAGI2	c.2084T>C	NM_012301.4	NP_036433.2:p.(Met695Thr)	NC_000007.13:g.77824376A>G	VUS	1 lab	5e92ba2c87
19:38987516 RYR1 G>A	19	38987516	38987516	G	A	RYR1	c.6813G>A	NM_000540.3	NP_000531.2:p.(Thr2271=)	NC_000019.9:g.38987516G>A	(Likely) benign	1 lab	5e9380407e
8:28573606 EXTL3 G>A	8	28573606	28573606	G	A	EXTL3	c.30G>A	NM_001440.4	NP_001431.1:p.(Gly10=)	NC_000008.10:g.28573606G>A	(Likely) benign	1 lab	5e964c7bef
8:145739716 RECQL4 G>T	8	145739716	145739716	G	T	RECQL4	c.1735C>A	NM_004260.4	NP_004251.4:p.(Leu579Met)	NC_000008.10:g.145739716G>T	VUS	1 lab	5e96e8ae11
11:17452434 ABCC8 G>A	11	17452434	17452434	G	A	ABCC8	c.1744C>T	NM_000352.6	NP_000343.2:p.(Leu582Phe)	NC_000011.9:g.17452434G>A	(Likely) pathogenic	1 lab	5e98730150
20:21686379 PAX1 G>A	20	21686379	21686379	G	A	PAX1	c.29G>A	NM_001257096.2	NP_001244025.1:p.(Arg10Gln)	NC_000020.10:g.21686379G>A	VUS	1 lab	5e98bf5299
17:56283727 MKS1 G>C	17	56283727	56283727	G	C	MKS1	c.1505C>G	NM_017777.4	NP_060247.2:p.(Ser502Trp)	NC_000017.10:g.56283727G>C	VUS	1 lab	5e9a58634c
4:126242659 FAT4 G>A	4	126242659	126242659	G	A	FAT4	c.5093G>A	NM_001291303.3	NP_001278232.1:p.(Arg1698Gln)	NC_000004.11:g.126242659G>A	VUS	1 lab	5e9a6d63c1
12:65640068 LEMD3 T>C	12	65640068	65640068	T	C	LEMD3	c.2699T>C	NM_014319.5	NP_055134.2:p.(Leu900Pro)	NC_000012.11:g.65640068T>C	VUS	1 lab	5e9aa3ff4a
8:69030886 PREX2 T>C	8	69030886	69030886	T	C	PREX2	c.3421+7T>C	NM_024870.4	NP_079146.2:p.?	NC_000008.10:g.69030886T>C	(Likely) benign	1 lab	5e9af66f58
17:73737084 ITGB4 A>C	17	73737084	73737084	A	C	ITGB4	c.2631A>C	NM_000213.5	NP_000204.3:p.(Lys877Asn)	NC_000017.10:g.73737084A>C	VUS	1 lab	5e9d06f761
7:105190840 RINT1 A>G	7	105190840	105190840	A	G	RINT1	c.1240A>G	NM_021930.6	NP_068749.3:p.(Ser414Gly)	NC_000007.13:g.105190840A>G	VUS	1 lab	5e9dae66be
14:105413876 AHNAK2 C>T	14	105413876	105413876	C	T	AHNAK2	c.7912G>A	NM_138420.4	NP_612429.2:p.(Asp2638Asn)	NC_000014.8:g.105413876C>T	(Likely) benign	1 lab	5e9e6dcf34
X:152861653 CCNQ G>A	X	152861653	152861653	G	A	CCNQ	c.113-8C>T	NM_152274.5	NP_689487.2:p.?	NC_000023.10:g.152861653G>A	(Likely) benign	1 lab	5e9f0e8ed9
1:234743571 IRF2BP2 G>A	1	234743571	234743571	G	A	IRF2BP2	c.1076C>T	NM_182972.3	NP_892017.2:p.(Pro359Leu)	NC_000001.10:g.234743571G>A	VUS	1 lab	5e9f6b41bb
15:23889378 MAGEL2 C>T	15	23889378	23889378	C	T	MAGEL2	c.3512G>A	NM_019066.5	NP_061939.3:p.(Arg1171Gln)	NC_000015.9:g.23889378C>T	(Likely) benign	1 lab	5e9feb85bb
14:58965621 KIAA0586 T>A	14	58965621	58965621	T	A	KIAA0586	c.4111T>A	NM_001329943.3	NP_001316872.1:p.(Ser1371Thr)	NC_000014.8:g.58965621T>A	(Likely) benign	1 lab	5ea0717bbd
19:10291064 DNMT1 C>T	19	10291064	10291064	C	T	DNMT1	c.407G>A	NM_001130823.3	NP_001124295.1:p.(Arg136His)	NC_000019.9:g.10291064C>T	(Likely) benign	1 lab	5ea161bf3b
X:84349934 SATL1 G>A	X	84349934	84349934	G	A	SATL1	c.1762C>T	NM_001367857.2	NP_001354786.1:p.(Gln588Ter)	NC_000023.10:g.84349934G>A	(Likely) benign	1 lab	5ea1d1f7fb
14:99973439 CCNK A>G	14	99973439	99973439	A	G	CCNK	c.1072A>G	NM_001099402.2	NP_001092872.1:p.(Ile358Val)	NC_000014.8:g.99973439A>G	(Likely) benign	1 lab	5ea241e7f8
15:91491934 UNC45A C>T	15	91491934	91491934	C	T	UNC45A	c.1788C>T	NM_018671.5	NP_061141.2:p.(Cys596=)	NC_000015.9:g.91491934C>T	(Likely) benign	1 lab	5ea269bc6f
12:53073570 KRT1 T>C	12	53073570	53073570	T	C	KRT1	c.563A>G	NM_006121.4	NP_006112.3:p.(Asn188Ser)	NC_000012.11:g.53073570T>C	(Likely) pathogenic	1 lab	212d23e868
2:189875446 COL3A1 A>C	2	189875446	189875446	A	C	COL3A1	c.4084A>C	NM_000090.4	NP_000081.2:p.(Ser1362Arg)	NC_000002.11:g.189875446A>C	VUS	1 lab	5ea3ab03c3
8:144893428 SCRIB C>T	8	144893428	144893428	C	T	SCRIB	c.994G>A	NM_182706.5	NP_874365.3:p.(Gly332Arg)	NC_000008.10:g.144893428C>T	(Likely) benign	1 lab	5ea5cb708d
20:34773235 EPB41L1 A>G	20	34773235	34773235	A	G	EPB41L1	c.763A>G	NM_012156.2	NP_036288.2:p.(Met255Val)	NC_000020.10:g.34773235A>G	(Likely) benign	1 lab	5ea6742afd
10:61831643 ANK3 A>G	10	61831643	61831643	A	G	ANK3	c.8996T>C	NM_020987.5	NP_066267.2:p.(Met2999Thr)	NC_000010.10:g.61831643A>G	(Likely) benign	1 lab	5ea6bce0fc
9:139910186 ABCA2 G>A	9	139910186	139910186	G	A	ABCA2	c.3455C>T	NM_001606.5	NP_001597.2:p.(Ala1152Val)	NC_000009.11:g.139910186G>A	VUS	1 lab	5ea785e300
6:29641250 ZFP57 C>T	6	29641250	29641250	C	T	ZFP57	c.638G>A	NM_001109809.5	NP_001103279.2:p.(Arg213Gln)	NC_000006.11:g.29641250C>T	(Likely) benign	1 lab	5ea803ae97
19:41355885 CYP2A6 T>A	19	41355885	41355885	T	A	CYP2A6	c.181A>T	NM_000762.6	NP_000753.3:p.(Ile61Phe)	NC_000019.9:g.41355885T>A	VUS	1 lab	5ea8ffc4a8
11:5799249 OR52N5 T>C	11	5799249	5799249	T	C	OR52N5	c.616A>G	NM_001385662.1	NP_001372591.1:p.(Ile206Val)	NC_000011.9:g.5799249T>C	(Likely) benign	1 lab	5ea94a0276
1:3761487 CEP104 C>G	1	3761487	3761487	C	G	CEP104	c.550G>C	NM_014704.4	NP_055519.1:p.(Glu184Gln)	NC_000001.10:g.3761487C>G	(Likely) benign	1 lab	5eada364a4
20:33961988 UQCC1 TAGAA>T	20	33961988	33961996	TAGAA	T	UQCC1	c.401_404del	NM_018244.5	NP_060714.3:p.(Phe134Ter)	NC_000020.10:g.33961993_33961996del	VUS	1 lab	5eaf7d7a86
12:49424190 KMT2D C>T	12	49424190	49424190	C	T	KMT2D	c.13872G>A	NM_003482.4	NP_003473.3:p.(Ser4624=)	NC_000012.11:g.49424190C>T	(Likely) benign	1 lab	5eb093e398
10:81317059 SFTPA2 C>A	10	81317059	81317059	C	A	SFTPA2	c.653G>T	NM_001098668.4	NP_001092138.1:p.(Gly218Val)	NC_000010.10:g.81317059C>A	VUS	1 lab	5eb28b6986
10:89624143 PTEN A>G	10	89624143	89624143	A	G	PTEN	c.-84A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624143A>G	VUS	1 lab	5eb431bb09
5:171773240 SH3PXD2B G>A	5	171773240	171773240	G	A	SH3PXD2B	c.1088C>T	NM_001017995.3	NP_001017995.1:p.(Pro363Leu)	NC_000005.9:g.171773240G>A	VUS	1 lab	5eb4f36ec6
3:111873902 SLC9C1 TAAA>T	3	111873902	111873916	TAAA	T	SLC9C1	c.3365-9_3365-7del	NM_183061.3	NP_898884.1:p.?	NC_000003.11:g.111873914_111873916del	(Likely) benign	1 lab	5eb8ebb97d
4:158254465 GRIA2 C>A	4	158254465	158254465	C	A	GRIA2	c.1115C>A	NM_001083619.3	NP_001077088.2:p.(Thr372Lys)	NC_000004.11:g.158254465C>A	(Likely) benign	1 lab	5eb95de7cd
15:90630676 IDH2 A>C	15	90630676	90630676	A	C	IDH2	c.810T>G	NM_002168.4	NP_002159.2:p.(Phe270Leu)	NC_000015.9:g.90630676A>C	(Likely) benign	1 lab	5eba1300c7
19:34843753 GARRE1 ACCCCACCCCAGC>A	19	34843753	34843774	ACCCCACCCCAGC	A	GARRE1	c.3116_3127del	NM_014686.5	NP_055501.2:p.(Gln1039_Pro1042del)	NC_000019.9:g.34843763_34843774del	(Likely) benign	1 lab	5ebe67e849
4:126372433 FAT4 C>T	4	126372433	126372433	C	T	FAT4	c.10268C>T	NM_001291303.3	NP_001278232.1:p.(Thr3423Ile)	NC_000004.11:g.126372433C>T	VUS	1 lab	5ebe69bbd1
2:71766286 DYSF G>A	2	71766286	71766286	G	A	DYSF	c.1494-1G>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71766286G>A	(Likely) pathogenic	1 lab	5ec207e6a5
1:110171985 AMPD2 C>T	1	110171985	110171985	C	T	AMPD2	c.1735C>T	NM_001368809.2	NP_001355738.1:p.(Pro579Ser)	NC_000001.10:g.110171985C>T	(Likely) benign	1 lab	5ec2c5c333
10:3207479 PITRM1 G>A	10	3207479	3207479	G	A	PITRM1	c.581C>T	NM_014889.4	NP_055704.2:p.(Thr194Met)	NC_000010.10:g.3207479G>A	VUS	1 lab	5ec2fceeaf
3:195510197 MUC4 GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA>G	3	195510197	195510360	GGGTGGTGTCACCTGTGGATACTGAGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGAAGTGTCGGTGACAGGAAGAGA	G	MUC4	c.8110_8253del	NM_018406.7	NP_060876.5:p.(Ser2704_Thr2751del)	NC_000003.11:g.195510217_195510360del	(Likely) benign	1 lab	5ec49c5e9d
14:102506939 DYNC1H1 T>C	14	102506939	102506939	T	C	DYNC1H1	c.11870T>C	NM_001376.5	NP_001367.2:p.(Phe3957Ser)	NC_000014.8:g.102506939T>C	VUS	1 lab	5ec58ffdfe
11:17415960 ABCC8 G>A	11	17415960	17415960	G	A	ABCC8	c.4412-14C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17415960G>A	(Likely) benign	1 lab	5ec7888bea
8:126036877 WASHC5 C>A	8	126036877	126036877	C	A	WASHC5	c.3462G>T	NM_014846.4	NP_055661.3:p.(Glu1154Asp)	NC_000008.10:g.126036877C>A	VUS	1 lab	5ec92e1a1d
2:179419407 TTN C>T	2	179419407	179419407	C	T	TTN	c.88667G>A	NM_001267550.2	NP_001254479.2:p.(Arg29556Gln)	NC_000002.11:g.179419407C>T	VUS	1 lab	5ecaa9c140
4:170557210 CLCN3 A>G	4	170557210	170557210	A	G	CLCN3	c.131A>G	NM_001829.4	NP_001820.2:p.(Asp44Gly)	NC_000004.11:g.170557210A>G	VUS	1 lab	5ecbc2d130
3:9512363 SETD5 A>G	3	9512363	9512363	A	G	SETD5	c.2945A>G	NM_001080517.3	NP_001073986.1:p.(Asn982Ser)	NC_000003.11:g.9512363A>G	VUS	1 lab	5eccab792d
2:163124624 IFIH1 T>C	2	163124624	163124624	T	C	IFIH1	c.2780A>G	NM_022168.4	NP_071451.2:p.(His927Arg)	NC_000002.11:g.163124624T>C	VUS	1 lab	5ecd0a6cb7
20:56234679 PMEPA1 G>C	20	56234679	56234679	G	C	PMEPA1	c.184C>G	NM_020182.5	NP_064567.2:p.(Leu62Val)	NC_000020.10:g.56234679G>C	VUS	1 lab	5ecd4aeba7
22:39814765 TAB1 G>C	22	39814765	39814765	G	C	TAB1	c.579G>C	NM_006116.3	NP_006107.1:p.(Ser193=)	NC_000022.10:g.39814765G>C	(Likely) benign	1 lab	5ece256750
17:7417039 POLR2A C>G	17	7417039	7417039	C	G	POLR2A	c.5456C>G	NM_000937.5	NP_000928.1:p.(Thr1819Ser)	NC_000017.10:g.7417039C>G	VUS	1 lab	5ece31bce6
6:168369851 AFDN G>A	6	168369851	168369851	G	A	AFDN	c.5315G>A	NM_001386888.1	NP_001373817.1:p.(Arg1772Gln)	NC_000006.11:g.168369851G>A	(Likely) benign	1 lab	5ed002e80e
8:19263343 CSGALNACT1 A>G	8	19263343	19263343	A	G	CSGALNACT1	c.1547T>C	NM_001354483.2	NP_001341412.1:p.(Ile516Thr)	NC_000008.10:g.19263343A>G	VUS	1 lab	5ed198c9fd
8:55542748 RP1 AG>A	8	55542748	55542749	AG	A	RP1	c.6307del	NM_006269.2	NP_006260.1:p.(Ala2103LeufsTer4)	NC_000008.10:g.55542749del	VUS	1 lab	5ed1cb28c2
15:42185659 SPTBN5 C>T	15	42185659	42185659	C	T	SPTBN5	c.37G>A	NM_016642.4	NP_057726.4:p.(Gly13Arg)	NC_000015.9:g.42185659C>T	VUS	1 lab	5ed3796247
12:116401226 MED13L C>T	12	116401226	116401226	C	T	MED13L	c.6486G>A	NM_015335.5	NP_056150.1:p.(Thr2162=)	NC_000012.11:g.116401226C>T	(Likely) benign	1 lab	5ed6ab0c72
17:7752206 KDM6B C>T	17	7752206	7752206	C	T	KDM6B	c.2600C>T	NM_001348716.2	NP_001335645.1:p.(Ser867Leu)	NC_000017.10:g.7752206C>T	(Likely) benign	1 lab	5ed73bf44f
17:73231736 NUP85 C>T	17	73231736	73231736	C	T	NUP85	c.1933C>T	NM_024844.5	NP_079120.1:p.(Arg645Trp)	NC_000017.10:g.73231736C>T	(Likely) pathogenic	1 lab	5ed96e6b0d
19:40364127 FCGBP A>G	19	40364127	40364127	A	G	FCGBP	c.14515T>C	NM_003890.3	NP_003881.2:p.(Cys4839Arg)	NC_000019.9:g.40364127A>G	VUS	1 lab	5eda0aa0fc
17:73565155 LLGL2 G>A	17	73565155	73565155	G	A	LLGL2	c.1419G>A	NM_001031803.2	NP_001026973.1:p.(Thr473=)	NC_000017.10:g.73565155G>A	(Likely) benign	1 lab	5edafacdcf
13:31789198 B3GLCT G>T	13	31789198	31789198	G	T	B3GLCT	c.81G>T	NM_194318.4	NP_919299.3:p.(Leu27Phe)	NC_000013.10:g.31789198G>T	(Likely) benign	1 lab	5edc1851e7
9:109689609 ZNF462 A>G	9	109689609	109689609	A	G	ZNF462	c.3416A>G	NM_021224.6	NP_067047.4:p.(Glu1139Gly)	NC_000009.11:g.109689609A>G	(Likely) benign	1 lab	5edc4ae2b7
4:6302804 WFS1 C>T	4	6302804	6302804	C	T	WFS1	c.1282C>T	NM_006005.3	NP_005996.2:p.(Pro428Ser)	NC_000004.11:g.6302804C>T	VUS	1 lab	5edd32efa5
1:152278830 FLG C>CTTG	1	152278830	152278832	C	CTTG	FLG	c.8531_8532insCAA	NM_002016.2	NP_002007.1:p.(Glu2844delinsAspLys)	NC_000001.10:g.152278831_152278832insTGT	(Likely) benign	1 lab	5ede30a62e
22:40660851 TNRC6B A>G	22	40660851	40660851	A	G	TNRC6B	c.617A>G	NM_001162501.2	NP_001155973.1:p.(Lys206Arg)	NC_000022.10:g.40660851A>G	(Likely) benign	1 lab	5ede5b7774
17:42430141 GRN AC>A	17	42430141	42430144	AC	A	GRN	c.1760del	NM_002087.4	NP_002078.1:p.(Pro587GlnfsTer3)	NC_000017.10:g.42430144del	VUS	1 lab	5edf8d3dfd
2:179518615 TTN A>C	2	179518615	179518615	A	C	TTN	c.38474T>G	NM_001267550.2	NP_001254479.2:p.(Val12825Gly)	NC_000002.11:g.179518615A>C	VUS	1 lab	5ee01a0ec6
18:51750584 MBD2 T>TGCC	18	51750584	51750598	T	TGCC	MBD2	c.343_345dup	NM_003927.5	NP_003918.1:p.(Gly115dup)	NC_000018.9:g.51750596_51750598dup	VUS	1 lab	5ee1859316
12:102796353 IGF1 A>G	12	102796353	102796353	A	G	IGF1	c.403-9T>C	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102796353A>G	(Likely) benign	1 lab	5ee23cc706
17:37228732 PLXDC1 G>A	17	37228732	37228732	G	A	PLXDC1	c.1193C>T	NM_020405.5	NP_065138.2:p.(Thr398Ile)	NC_000017.10:g.37228732G>A	VUS	1 lab	5ee39b0f14
14:57099786 TMEM260 T>TG	14	57099786	57099791	T	TG	TMEM260	c.1626dup	NM_017799.4	NP_060269.3:p.(Ser543ValfsTer3)	NC_000014.8:g.57099791dup	VUS	1 lab	5ee45bf14b
1:228487730 OBSCN T>A	1	228487730	228487730	T	A	OBSCN	c.13622T>A	NM_001386125.1	NP_001373054.1:p.(Leu4541Gln)	NC_000001.10:g.228487730T>A	VUS	1 lab	5ee590edab
18:7049088 LAMA1 CA>C	18	7049088	7049090	CA	C	LAMA1	c.756del	NM_005559.4	NP_005550.2:p.(Ile252MetfsTer10)	NC_000018.9:g.7049090del	VUS	1 lab	5ee656b110
17:62024406 SCN4A C>T	17	62024406	62024406	C	T	SCN4A	c.3440G>A	NM_000334.4	NP_000325.4:p.(Arg1147Lys)	NC_000017.10:g.62024406C>T	VUS	1 lab	5ee6bf527a
16:11477738 MISSING C>G	16	11477738	11477738	C	G	MISSING				NC_000016.9:g.11477738C>G	VUS	1 lab	5ee7cf39b5
1:144874815 PDE4DIP T>C	1	144874815	144874815	T	C	PDE4DIP	c.4991A>G	NM_001395426.1	NP_001382355.1:p.(His1664Arg)	NC_000001.10:g.144874815T>C	VUS	1 lab	5ee92c768c
8:102631911 GRHL2 G>A	8	102631911	102631911	G	A	GRHL2	c.1243G>A	NM_024915.4	NP_079191.2:p.(Val415Ile)	NC_000008.10:g.102631911G>A	(Likely) benign	1 lab	5ee9429371
9:36222910 GNE G>GTCCACAGAGTTCCACTCTTGGATCAGTTTGGTTGAATGCAGCACAATTCCTTCCCGAGGATTTACACGGCCACCTGTGGAAATGCCTGCGC	9	36222910	36223006	G	GTCCACAGAGTTCCACTCTTGGATCAGTTTGGTTGAATGCAGCACAATTCCTTCCCGAGGATTTACACGGCCACCTGTGGAAATGCCTGCGC	GNE	c.1412-6_1496dup	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36222916_36223006dup	VUS	1 lab	5ee97d4092
13:103401491 LRTM3 A>T	13	103401491	103401491	A	T	LRTM3	c.1556T>A	NM_001146197.3	NP_001139669.1:p.(Leu519Ter)	NC_000013.10:g.103401491A>T	VUS	1 lab	5eebbcf507
15:43827450 PPIP5K1 C>T	15	43827450	43827450	C	T	PPIP5K1	c.3895G>A	NM_001394395.1	NP_001381324.1:p.(Val1299Met)	NC_000015.9:g.43827450C>T	VUS	1 lab	5eed0685b7
1:17322515 ATP13A2 G>A	1	17322515	17322515	G	A	ATP13A2	c.1498C>T	NM_022089.4	NP_071372.1:p.(Arg500Cys)	NC_000001.10:g.17322515G>A	VUS	1 lab	5eef222437
19:49002090 LMTK3 C>T	19	49002090	49002090	C	T	LMTK3	c.2236G>A	NM_001388485.1	NP_001375414.1:p.(Gly746Arg)	NC_000019.9:g.49002090C>T	(Likely) benign	1 lab	5eef463938
13:110826809 COL4A1 A>T	13	110826809	110826809	A	T	COL4A1	c.3390T>A	NM_001845.6	NP_001836.3:p.(Gly1130=)	NC_000013.10:g.110826809A>T	VUS	1 lab	5eefb300ea
7:158451107 NCAPG2 G>T	7	158451107	158451107	G	T	NCAPG2	c.1990-7C>A	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158451107G>T	(Likely) benign	1 lab	5eefebe6da
2:179584160 TTN G>A	2	179584160	179584160	G	A	TTN	c.23957C>T	NM_001267550.2	NP_001254479.2:p.(Ser7986Phe)	NC_000002.11:g.179584160G>A	(Likely) benign	1 lab	5ef23c73d6
8:101936511 YWHAZ G>A	8	101936511	101936511	G	A	YWHAZ	c.434C>T	NM_145690.3	NP_663723.1:p.(Ser145Leu)	NC_000008.10:g.101936511G>A	VUS	1 lab	5ef2a8d678
7:75614093 POR AGAG>A	7	75614093	75614099	AGAG	A	POR	c.1069_1071del	NM_000941.3	NP_000932.3:p.(Glu357del)	NC_000007.13:g.75614097_75614099del	VUS	1 lab	5ef5417927
11:103124007 DYNC2H1 T>A	11	103124007	103124007	T	A	DYNC2H1	c.10043-7T>A	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103124007T>A	(Likely) benign	1 lab	5ef6af11ab
15:32745909 GOLGA8O C>T	15	32745909	32745909	C	T	GOLGA8O	c.163G>A	NM_001277308.1	NP_001264237.1:p.(Gly55Arg)	NC_000015.9:g.32745909C>T	(Likely) benign	1 lab	5ef7924c5c
17:77984256 TBC1D16 T>C	17	77984256	77984256	T	C	TBC1D16	c.482A>G	NM_019020.4	NP_061893.2:p.(Glu161Gly)	NC_000017.10:g.77984256T>C	VUS	1 lab	5ef7f3c4cc
18:20572845 RBBP8 A>C	18	20572845	20572845	A	C	RBBP8	c.1055A>C	NM_002894.3	NP_002885.1:p.(Gln352Pro)	NC_000018.9:g.20572845A>C	VUS	1 lab	5ef9012705
1:22202727 HSPG2 C>T	1	22202727	22202727	C	T	HSPG2	c.2998G>A	NM_005529.7	NP_005520.4:p.(Asp1000Asn)	NC_000001.10:g.22202727C>T	VUS	1 lab	5efb5b4923
20:3683844 SIGLEC1 G>A	20	3683844	3683844	G	A	SIGLEC1	c.1228C>T	NM_023068.4	NP_075556.1:p.(His410Tyr)	NC_000020.10:g.3683844G>A	VUS	1 lab	5efb67f37d
7:141759285 MGAM C>T	7	141759285	141759285	C	T	MGAM	c.3833C>T	NM_001365693.1	NP_001352622.1:p.(Ser1278Leu)	NC_000007.13:g.141759285C>T	(Likely) benign	1 lab	5efceb17dd
1:246922356 SCCPDH G>A	1	246922356	246922356	G	A	SCCPDH	c.716G>A	NM_016002.3	NP_057086.2:p.(Arg239Gln)	NC_000001.10:g.246922356G>A	VUS	1 lab	5efddfb052
14:51224137 NIN T>C	14	51224137	51224137	T	C	NIN	c.3611A>G	NM_020921.4	NP_065972.4:p.(Gln1204Arg)	NC_000014.8:g.51224137T>C	(Likely) benign	1 lab	5efe92bd5b
10:27335455 ANKRD26 T>C	10	27335455	27335455	T	C	ANKRD26	c.1815-3A>G	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27335455T>C	VUS	1 lab	5effc2ed68
5:58882192 PDE4D C>T	5	58882192	58882192	C	T	PDE4D	c.455+306803G>A	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58882192C>T	(Likely) benign	1 lab	5effdad4a4
1:19212051 ALDH4A1 G>C	1	19212051	19212051	G	C	ALDH4A1	c.369C>G	NM_003748.4	NP_003739.2:p.(Asp123Glu)	NC_000001.10:g.19212051G>C	VUS	1 lab	5f0025cfab
11:68157500 LRP5 G>A	11	68157500	68157500	G	A	LRP5	c.1564G>A	NM_002335.4	NP_002326.2:p.(Ala522Thr)	NC_000011.9:g.68157500G>A	VUS	1 lab	5f00f6d742
9:13188938 MPDZ C>T	9	13188938	13188938	C	T	MPDZ	c.2209G>A	NM_001378778.1	NP_001365707.1:p.(Gly737Ser)	NC_000009.11:g.13188938C>T	VUS	1 lab	5f0107e2a8
3:7620638 GRM7 G>A	3	7620638	7620638	G	A	GRM7	c.2045G>A	NM_000844.4	NP_000835.1:p.(Arg682His)	NC_000003.11:g.7620638G>A	VUS	1 lab	5f04cd9d59
16:72991711 ZFHX3 A>AGCC	16	72991711	72991714	A	AGCC	ZFHX3	c.2331_2333dup	NM_006885.4	NP_008816.3:p.(Ala784dup)	NC_000016.9:g.72991712_72991714dup	(Likely) benign	1 lab	5f0516daa1
1:35469578 ZMYM6 GATCTT>G	1	35469578	35469583	GATCTT	G	ZMYM6	c.1978_1982del	NM_007167.4	NP_009098.3:p.(Lys660HisfsTer4)	NC_000001.10:g.35469579_35469583del	VUS	1 lab	5f05b6c31f
11:9225743 DENND5A T>A	11	9225743	9225743	T	A	DENND5A	c.413A>T	NM_015213.4	NP_056028.2:p.(Tyr138Phe)	NC_000011.9:g.9225743T>A	(Likely) benign	1 lab	5f07683a02
16:3817859 CREBBP T>A	16	3817859	3817859	T	A	CREBBP	c.3112A>T	NM_004380.3	NP_004371.2:p.(Ile1038Leu)	NC_000016.9:g.3817859T>A	(Likely) benign	1 lab	5f07be11b1
9:98735154 ERCC6L2 T>G	9	98735154	98735154	T	G	ERCC6L2	c.3121T>G	NM_020207.7	NP_064592.3:p.(Tyr1041Asp)	NC_000009.11:g.98735154T>G	VUS	1 lab	5f082764ba
3:197432000 RUBCN C>T	3	197432000	197432000	C	T	RUBCN	c.266G>A	NM_014687.4	NP_055502.1:p.(Arg89Gln)	NC_000003.11:g.197432000C>T	(Likely) benign	1 lab	5f084ed404
X:21675876 KLHL34 G>A	X	21675876	21675876	G	A	KLHL34	c.31C>T	NM_153270.3	NP_695002.1:p.(His11Tyr)	NC_000023.10:g.21675876G>A	VUS	1 lab	5f0a4a6019
7:21751337 DNAH11 C>A	7	21751337	21751337	C	A	DNAH11	c.6842C>A	NM_001277115.2	NP_001264044.1:p.(Thr2281Asn)	NC_000007.13:g.21751337C>A	VUS	1 lab	5f0f1cd124
2:37247020 HEATR5B C>T	2	37247020	37247020	C	T	HEATR5B	c.4036G>A	NM_019024.3	NP_061897.1:p.(Val1346Met)	NC_000002.11:g.37247020C>T	VUS	1 lab	5f0f898bdd
10:102753137 TWNK A>G	10	102753137	102753137	A	G	TWNK	c.1925A>G	NM_021830.5	NP_068602.2:p.(Lys642Arg)	NC_000010.10:g.102753137A>G	VUS	1 lab	5f105f3a45
8:90983441 NBN ATTTGT>A	8	90983441	90983449	ATTTGT	A	NBN	c.657_661del	NM_002485.5	NP_002476.2:p.(Lys219AsnfsTer16)	NC_000008.10:g.90983445_90983449del	(Likely) pathogenic	1 lab	5f10a41073
2:26410302 GAREM2 G>A	2	26410302	26410302	G	A	GAREM2	c.1801G>A	NM_001168241.2	NP_001161713.1:p.(Ala601Thr)	NC_000002.11:g.26410302G>A	(Likely) benign	1 lab	5f11b79aec
14:92790194 SLC24A4 T>C	14	92790194	92790194	T	C	SLC24A4	c.20T>C	NM_153646.4	NP_705932.2:p.(Leu7Pro)	NC_000014.8:g.92790194T>C	(Likely) benign	1 lab	5f132474b4
19:13319766 CACNA1A C>T	19	13319766	13319766	C	T	CACNA1A	c.6584G>A	NM_001127222.2	NP_001120694.1:p.(Arg2195Gln)	NC_000019.9:g.13319766C>T	(Likely) benign	1 lab	5f1371e78b
14:77771059 POMT2 G>C	14	77771059	77771059	G	C	POMT2	c.523C>G	NM_013382.7	NP_037514.2:p.(Leu175Val)	NC_000014.8:g.77771059G>C	VUS	1 lab	5f150667dd
4:47663741 CORIN A>C	4	47663741	47663741	A	C	CORIN	c.1722T>G	NM_006587.4	NP_006578.2:p.(Asp574Glu)	NC_000004.11:g.47663741A>C	(Likely) benign	1 lab	5f16e63392
8:94768104 TMEM67 A>G	8	94768104	94768104	A	G	TMEM67	c.312+10A>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94768104A>G	VUS	1 lab	5f175fc9dd
13:99948315 UBAC2 T>C	13	99948315	99948315	T	C	UBAC2	c.390-18036T>C	NM_001144072.2	NP_001137544.1:p.?	NC_000013.10:g.99948315T>C	(Likely) benign	1 lab	5f177d8619
6:129722393 LAMA2 G>A	6	129722393	129722393	G	A	LAMA2	c.5470G>A	NM_000426.4	NP_000417.3:p.(Gly1824Ser)	NC_000006.11:g.129722393G>A	(Likely) benign	1 lab	5f1a1d5d3c
12:121438899 HNF1A C>T	12	121438899	121438899	C	T	HNF1A	c.1800C>T	NM_000545.8	NP_000536.6:p.(Ser600=)	NC_000012.11:g.121438899C>T	(Likely) benign	1 lab	5f1a2b5275
5:73128197 ARHGEF28 GC>G	5	73128197	73128200	GC	G	ARHGEF28	c.1062del	NM_001177693.2	NP_001171164.1:p.(Ser355ArgfsTer13)	NC_000005.9:g.73128200del	VUS	1 lab	5f1a489dcf
16:20781427 ACSM3 C>T	16	20781427	20781427	C	T	ACSM3	c.71C>T	NM_005622.4	NP_005613.2:p.(Ser24Phe)	NC_000016.9:g.20781427C>T	VUS	1 lab	5f1b937d95
12:46211495 ARID2 C>T	12	46211495	46211495	C	T	ARID2	c.461C>T	NM_152641.4	NP_689854.2:p.(Ser154Leu)	NC_000012.11:g.46211495C>T	(Likely) benign	1 lab	5f1b974d5a
10:89685309 PTEN C>A	10	89685309	89685309	C	A	PTEN	c.204C>A	NM_000314.8	NP_000305.3:p.(Tyr68Ter)	NC_000010.10:g.89685309C>A	(Likely) pathogenic	1 lab	5f1d62f2b3
18:56024418 NEDD4L A>ATTTT	18	56024418	56024422	A	ATTTT	NEDD4L	c.1709-7_1709-4dup	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56024419_56024422dup	(Likely) benign	1 lab	5f1f08fbab
5:122754192 CEP120 G>A	5	122754192	122754192	G	A	CEP120	c.67C>T	NM_001375405.1	NP_001362334.1:p.(Arg23Cys)	NC_000005.9:g.122754192G>A	VUS	1 lab	5f1fc21de9
9:138591313 SOHLH1 T>C	9	138591313	138591313	T	C	SOHLH1	c.1A>G	NM_001101677.2	NP_001095147.2:p.(Met1?)	NC_000009.11:g.138591313T>C	VUS	1 lab	5f202a3ecb
1:11876729 CLCN6 A>G	1	11876729	11876729	A	G	CLCN6	c.271A>G	NM_001286.5	NP_001277.2:p.(Thr91Ala)	NC_000001.10:g.11876729A>G	VUS	1 lab	5f206d69f9
11:34174046 ABTB2 C>T	11	34174046	34174046	C	T	ABTB2	c.2966G>A	NM_145804.3	NP_665803.2:p.(Arg989Gln)	NC_000011.9:g.34174046C>T	(Likely) benign	1 lab	5f22165394
17:73751928 ITGB4 G>A	17	73751928	73751928	G	A	ITGB4	c.4705G>A	NM_000213.5	NP_000204.3:p.(Gly1569Ser)	NC_000017.10:g.73751928G>A	VUS	1 lab	5f221dbcdb
11:65978707 PACS1 G>A	11	65978707	65978707	G	A	PACS1	c.637G>A	NM_018026.4	NP_060496.2:p.(Val213Met)	NC_000011.9:g.65978707G>A	(Likely) benign	1 lab	5f2593a2f9
2:48685353 PPP1R21 G>A	2	48685353	48685353	G	A	PPP1R21	c.362G>A	NM_001135629.3	NP_001129101.1:p.(Arg121Gln)	NC_000002.11:g.48685353G>A	VUS	1 lab	5f2616be02
15:42743468 ZNF106 T>G	15	42743468	42743468	T	G	ZNF106	c.1002A>C	NM_001366845.3	NP_001353774.1:p.(Leu334Phe)	NC_000015.9:g.42743468T>G	(Likely) benign	1 lab	5f26651f06
19:39008016 RYR1 A>C	19	39008016	39008016	A	C	RYR1	c.9703A>C	NM_000540.3	NP_000531.2:p.(Ser3235Arg)	NC_000019.9:g.39008016A>C	VUS	1 lab	5f2671dad7
18:10856650 PIEZO2 TG>T	18	10856650	10856653	TG	T	PIEZO2	c.703+348del	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10856653del	(Likely) benign	1 lab	5f27a1a681
X:32328231 DMD C>T	X	32328231	32328231	C	T	DMD	c.6085G>A	NM_004006.3	NP_003997.2:p.(Glu2029Lys)	NC_000023.10:g.32328231C>T	VUS	1 lab	5fb4a236c2
11:57564365 CTNND1 A>G	11	57564365	57564365	A	G	CTNND1	c.857A>G	NM_001085458.2	NP_001078927.1:p.(Gln286Arg)	NC_000011.9:g.57564365A>G	(Likely) benign	1 lab	5f28cd4684
5:14316767 TRIO G>A	5	14316767	14316767	G	A	TRIO	c.1646G>A	NM_007118.4	NP_009049.2:p.(Arg549Gln)	NC_000005.9:g.14316767G>A	VUS	1 lab	5f5094c95a
10:95987180 PLCE1 G>T	10	95987180	95987180	G	T	PLCE1	c.1927G>T	NM_016341.4	NP_057425.3:p.(Ala643Ser)	NC_000010.10:g.95987180G>T	(Likely) benign	1 lab	5f294397bf
21:33691546 URB1 C>T	21	33691546	33691546	C	T	URB1	c.5773G>A	NM_014825.3	NP_055640.2:p.(Val1925Met)	NC_000021.8:g.33691546C>T	(Likely) benign	1 lab	5f2c46d1d8
14:94120348 UNC79 G>A	14	94120348	94120348	G	A	UNC79	c.6592G>A	NM_001395159.1	NP_001382088.1:p.(Ala2198Thr)	NC_000014.8:g.94120348G>A	(Likely) benign	1 lab	5f2dbeea9f
1:100378027 AGL C>CA	1	100378027	100378035	C	CA	AGL	c.3911dup	NM_000642.3	NP_000633.2:p.(Asn1304LysfsTer7)	NC_000001.10:g.100378035dup	(Likely) pathogenic	1 lab	5f2e7bc296
20:47990435 KCNB1 G>T	20	47990435	47990435	G	T	KCNB1	c.1662C>A	NM_004975.4	NP_004966.1:p.(Ser554Arg)	NC_000020.10:g.47990435G>T	VUS	1 lab	5f2ff74c52
1:196205189 KCNT2 C>A	1	196205189	196205189	C	A	KCNT2	c.3223G>T	NM_198503.5	NP_940905.2:p.(Asp1075Tyr)	NC_000001.10:g.196205189C>A	(Likely) benign	1 lab	5f31f0245d
17:5445310 NLRP1 C>T	17	5445310	5445310	C	T	NLRP1	c.2566G>A	NM_033004.4	NP_127497.1:p.(Asp856Asn)	NC_000017.10:g.5445310C>T	(Likely) benign	1 lab	5f3217166e
22:40574142 TNRC6B G>A	22	40574142	40574142	G	A	TNRC6B	c.3G>A	NM_001162501.2	NP_001155973.1:p.(Met1?)	NC_000022.10:g.40574142G>A	VUS	1 lab	5f34335723
19:36330507 NPHS1 G>A	19	36330507	36330507	G	A	NPHS1	c.2818C>T	NM_004646.4	NP_004637.1:p.(Arg940Cys)	NC_000019.9:g.36330507G>A	VUS	1 lab	5f363cb4cc
19:8654143 ADAMTS10 G>A	19	8654143	8654143	G	A	ADAMTS10	c.2141C>T	NM_030957.4	NP_112219.3:p.(Pro714Leu)	NC_000019.9:g.8654143G>A	(Likely) benign	1 lab	5f382ba993
12:2423316 CACNA1C C>G	12	2423316	2423316	C	G	CACNA1C	c.478-134826C>G	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2423316C>G	(Likely) benign	1 lab	5f390804bd
5:132259729 AFF4 C>A	5	132259729	132259729	C	A	AFF4	c.1050+3084G>T	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132259729C>A	(Likely) benign	1 lab	5f392d5bff
15:102301495 MISSING G>A	15	102301495	102301495	G	A	MISSING				NC_000015.9:g.102301495G>A	(Likely) benign	1 lab	60d96e29bb
5:140558428 PCDHB8 C>G	5	140558428	140558428	C	G	PCDHB8	c.813C>G	NM_019120.5	NP_061993.3:p.(Asp271Glu)	NC_000005.9:g.140558428C>G	VUS	1 lab	5f3986e8a1
2:211159044 MYL1 C>A	2	211159044	211159044	C	A	MYL1	c.403G>T	NM_079420.3	NP_524144.1:p.(Gly135Cys)	NC_000002.11:g.211159044C>A	VUS	1 lab	5f399568bd
7:92733883 SAMD9 G>A	7	92733883	92733883	G	A	SAMD9	c.1528C>T	NM_017654.4	NP_060124.2:p.(Pro510Ser)	NC_000007.13:g.92733883G>A	(Likely) benign	1 lab	5f3a159666
16:1825669 EME2 G>A	16	1825669	1825669	G	A	EME2	c.763G>A	NM_001257370.2	NP_001244299.1:p.(Ala255Thr)	NC_000016.9:g.1825669G>A	VUS	1 lab	5f41f6aaab
3:47098618 SETD2 G>A	3	47098618	47098618	G	A	SETD2	c.6656C>T	NM_014159.7	NP_054878.5:p.(Ala2219Val)	NC_000003.11:g.47098618G>A	(Likely) benign	1 lab	5f42a709d5
15:99467894 IGF1R C>G	15	99467894	99467894	C	G	IGF1R	c.2763C>G	NM_000875.5	NP_000866.1:p.(Phe921Leu)	NC_000015.9:g.99467894C>G	(Likely) benign	1 lab	5f44129203
17:73486391 TMEM94 G>A	17	73486391	73486391	G	A	TMEM94	c.1031G>A	NM_014738.6	NP_055553.3:p.(Arg344His)	NC_000017.10:g.73486391G>A	VUS	1 lab	5f44f7b24a
X:32404462 DMD C>A	X	32404462	32404462	C	A	DMD	c.4639G>T	NM_004006.3	NP_003997.2:p.(Ala1547Ser)	NC_000023.10:g.32404462C>A	VUS	1 lab	5f45da1b15
X:152914911 DUSP9 C>T	X	152914911	152914911	C	T	DUSP9	c.598C>T	NM_001318503.2	NP_001305432.1:p.(Arg200Trp)	NC_000023.10:g.152914911C>T	(Likely) benign	1 lab	5f466a2756
11:102822867 MMP13 C>T	11	102822867	102822867	C	T	MMP13	c.673G>A	NM_002427.4	NP_002418.1:p.(Gly225Ser)	NC_000011.9:g.102822867C>T	VUS	1 lab	5f46eda88d
7:152099202 KMT2C AC>A	7	152099202	152099203	AC	A	KMT2C	c.161+33508del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099203del	(Likely) benign	1 lab	5f496f30d9
14:23886196 MYH7 T>G	14	23886196	23886196	T	G	MYH7	c.4525A>C	NM_000257.4	NP_000248.2:p.(Ile1509Leu)	NC_000014.8:g.23886196T>G	VUS	1 lab	5f49d47c7a
21:44492141 CBS G>T	21	44492141	44492141	G	T	CBS	c.163C>A	NM_000071.3	NP_000062.1:p.(Gln55Lys)	NC_000021.8:g.44492141G>T	VUS	1 lab	5f4a0c1a0f
6:129802475 LAMA2 G>A	6	129802475	129802475	G	A	LAMA2	c.7640G>A	NM_000426.4	NP_000417.3:p.(Gly2547Glu)	NC_000006.11:g.129802475G>A	VUS	1 lab	5f4a4afacc
5:122435661 PRDM6 G>A	5	122435661	122435661	G	A	PRDM6	c.900+5G>A	NM_001136239.4	NP_001129711.1:p.?	NC_000005.9:g.122435661G>A	(Likely) benign	1 lab	5f4b71bc77
9:123253690 CDK5RAP2 AT>A	9	123253690	123253694	AT	A	CDK5RAP2	c.1376del	NM_018249.6	NP_060719.4:p.(Asn459IlefsTer7)	NC_000009.11:g.123253694del	VUS	1 lab	5f4d9073c6
4:73956507 ANKRD17 G>T	4	73956507	73956507	G	T	ANKRD17	c.6838C>A	NM_032217.5	NP_115593.3:p.(Pro2280Thr)	NC_000004.11:g.73956507G>T	(Likely) benign	1 lab	5f5229ab9c
22:51135989 SHANK3 GTT>G	22	51135989	51135991	GTT	G	SHANK3	c.1571+1_1572-1del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135990_51135991del	(Likely) benign	1 lab	5f52c75573
8:37630338 PLPBP TC>T	8	37630338	37630340	TC	T	PLPBP	c.387del	NM_007198.4	NP_009129.1:p.(Trp130GlyfsTer10)	NC_000008.10:g.37630340del	VUS	1 lab	5f53c09c13
X:22291569 CBLL2 G>A	X	22291569	22291569	G	A	CBLL2	c.461G>A	NM_152577.4	NP_689790.1:p.(Arg154His)	NC_000023.10:g.22291569G>A	VUS	1 lab	5f53fa0d4d
2:97881191 ANKRD36 G>A	2	97881191	97881191	G	A	ANKRD36	c.3630G>A	NM_001354587.1	NP_001341516.1:p.(Ser1210=)	NC_000002.11:g.97881191G>A	(Likely) benign	1 lab	5f542b6fe7
1:113657233 LRIG2 T>G	1	113657233	113657233	T	G	LRIG2	c.2265T>G	NM_014813.3	NP_055628.1:p.(Asp755Glu)	NC_000001.10:g.113657233T>G	(Likely) benign	1 lab	5f575404d1
1:156144916 SEMA4A G>A	1	156144916	156144916	G	A	SEMA4A	c.1474G>A	NM_022367.4	NP_071762.2:p.(Val492Met)	NC_000001.10:g.156144916G>A	VUS	1 lab	5f575643f6
20:10622080 JAG1 C>CA	20	10622080	10622090	C	CA	JAG1	c.2916+27dup	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622090dup	(Likely) benign	1 lab	2133f90bf9
11:31812405 PAX6 G>C	11	31812405	31812405	G	C	PAX6	c.1078C>G	NM_001368894.2	NP_001355823.1:p.(Pro360Ala)	NC_000011.9:g.31812405G>C	VUS	1 lab	5f5c9c4f3d
3:195507083 MUC4 T>A	3	195507083	195507083	T	A	MUC4	c.11368A>T	NM_018406.7	NP_060876.5:p.(Thr3790Ser)	NC_000003.11:g.195507083T>A	(Likely) benign	1 lab	5f5cc9773d
15:42977658 STARD9 A>ACCCCATTGTGAGCTCCAG	15	42977658	42977689	A	ACCCCATTGTGAGCTCCAG	STARD9	c.3896_3913dup	NM_020759.3	NP_065810.2:p.(Leu1299_Glu1304dup)	NC_000015.9:g.42977672_42977689dup	VUS	1 lab	5f5cd4f250
X:117731391 DOCK11 CAGT>C	X	117731391	117731394	CAGT	C	DOCK11	c.2264-2_2264del	NM_144658.4	NP_653259.3:p.?	NC_000023.10:g.117731392_117731394del	VUS	1 lab	5f5cf56f3a
16:1270645 CACNA1H C>T	16	1270645	1270645	C	T	CACNA1H	c.6713C>T	NM_021098.3	NP_066921.2:p.(Ser2238Leu)	NC_000016.9:g.1270645C>T	(Likely) benign	1 lab	5f5dce3ba2
4:3015469 GRK4 C>CA	4	3015469	3015478	C	CA	GRK4	c.664dup	NM_182982.3	NP_892027.2:p.(Arg222LysfsTer8)	NC_000004.11:g.3015478dup	VUS	1 lab	5f5f43b9ed
12:80240232 PPP1R12A C>CA	12	80240232	80240233	C	CA	PPP1R12A	c.369-1033dup	NM_002480.3	NP_002471.1:p.?	NC_000012.11:g.80240233dup	(Likely) benign	1 lab	5f5f8e766a
5:13786351 DNAH5 C>G	5	13786351	13786351	C	G	DNAH5	c.8757G>C	NM_001369.3	NP_001360.1:p.(Glu2919Asp)	NC_000005.9:g.13786351C>G	(Likely) benign	1 lab	5f62019bbe
1:21896837 ALPL C>T	1	21896837	21896837	C	T	ALPL	c.832C>T	NM_000478.6	NP_000469.3:p.(Leu278Phe)	NC_000001.10:g.21896837C>T	VUS	1 lab	5f62f79308
4:108868603 CYP2U1 A>G	4	108868603	108868603	A	G	CYP2U1	c.1198A>G	NM_183075.3	NP_898898.1:p.(Met400Val)	NC_000004.11:g.108868603A>G	VUS	1 lab	5f6309e153
4:71468514 AMBN G>C	4	71468514	71468514	G	C	AMBN	c.571-1G>C	NM_016519.6	NP_057603.1:p.?	NC_000004.11:g.71468514G>C	(Likely) pathogenic	1 lab	213486eea2
19:1453453 APC2 C>T	19	1453453	1453453	C	T	APC2	c.256C>T	NM_005883.3	NP_005874.1:p.(Leu86=)	NC_000019.9:g.1453453C>T	(Likely) benign	1 lab	5f649c752a
12:121432068 HNF1A G>A	12	121432068	121432068	G	A	HNF1A	c.815G>A	NM_000545.8	NP_000536.6:p.(Arg272His)	NC_000012.11:g.121432068G>A	VUS	1 lab	5f653869a3
2:189917433 COL5A2 G>T	2	189917433	189917433	G	T	COL5A2	c.2715+42C>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917433G>T	(Likely) benign	1 lab	35f276b36a
19:50119029 PRR12 G>A	19	50119029	50119029	G	A	PRR12	c.5050G>A	NM_020719.3	NP_065770.1:p.(Val1684Ile)	NC_000019.9:g.50119029G>A	(Likely) benign	1 lab	5f76fbcd23
13:41240043 FOXO1 TGGCGGCCGC>T	13	41240043	41240061	TGGCGGCCGC	T	FOXO1	c.298_306del	NM_002015.4	NP_002006.2:p.(Ala100_Ala102del)	NC_000013.10:g.41240053_41240061del	VUS	1 lab	5f65f8f50e
20:33567299 MYH7B G>T	20	33567299	33567299	G	T	MYH7B	c.198G>T	NM_020884.7	NP_065935.4:p.(Lys66Asn)	NC_000020.10:g.33567299G>T	VUS	1 lab	5f673b2d69
19:33696190 LRP3 C>T	19	33696190	33696190	C	T	LRP3	c.514C>T	NM_002333.4	NP_002324.2:p.(Arg172Cys)	NC_000019.9:g.33696190C>T	(Likely) pathogenic	1 lab	5f67c6296d
19:54972083 LENG8 G>C	19	54972083	54972083	G	C	LENG8	c.2378G>C	NM_052925.4	NP_443157.1:p.(Ser793Thr)	NC_000019.9:g.54972083G>C	(Likely) benign	1 lab	5f6865bf08
2:179505358 TTN C>T	2	179505358	179505358	C	T	TTN	c.40634-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179505358C>T	VUS	1 lab	5f69ab7797
6:19838010 ID4 C>T	6	19838010	19838010	C	T	ID4	c.25C>T	NM_001546.4	NP_001537.1:p.(Pro9Ser)	NC_000006.11:g.19838010C>T	VUS	1 lab	5f6b0b24e2
8:41792090 KAT6A GTCT>G	8	41792090	41792097	GTCT	G	KAT6A	c.3645_3647del	NM_006766.5	NP_006757.2:p.(Glu1215del)	NC_000008.10:g.41792095_41792097del	VUS	1 lab	5f6b99e686
17:60045568 MED13 T>C	17	60045568	60045568	T	C	MED13	c.4019A>G	NM_005121.3	NP_005112.2:p.(Tyr1340Cys)	NC_000017.10:g.60045568T>C	(Likely) benign	1 lab	2134dc7c12
9:14307440 NFIB C>T	9	14307440	14307440	C	T	NFIB	c.110G>A	NM_001190737.2	NP_001177666.1:p.(Arg37Gln)	NC_000009.11:g.14307440C>T	VUS	1 lab	5f6d5afec6
9:79928949 VPS13A C>T	9	79928949	79928949	C	T	VPS13A	c.4156C>T	NM_033305.3	NP_150648.2:p.(Arg1386Cys)	NC_000009.11:g.79928949C>T	VUS	1 lab	5f6e8096c3
1:12198305 TNFRSF8 C>T	1	12198305	12198305	C	T	TNFRSF8	c.1355C>T	NM_001243.5	NP_001234.3:p.(Ser452Leu)	NC_000001.10:g.12198305C>T	(Likely) benign	1 lab	5f6feabaac
11:34113474 CAPRIN1 G>C	11	34113474	34113474	G	C	CAPRIN1	c.1576G>C	NM_005898.5	NP_005889.3:p.(Val526Leu)	NC_000011.9:g.34113474G>C	(Likely) benign	1 lab	5f713dcb24
X:49173750 GAGE10 T>A	X	49173750	49173750	T	A	GAGE10	c.311T>A	NM_001098413.4	NP_001091883.3:p.(Val104Glu)	NC_000023.10:g.49173750T>A	VUS	1 lab	5f73ed907e
19:36575580 WDR62 G>A	19	36575580	36575580	G	A	WDR62	c.1576G>A	NM_001083961.2	NP_001077430.1:p.(Glu526Lys)	NC_000019.9:g.36575580G>A	VUS	1 lab	5f74a898ec
6:79671528 PHIP C>T	6	79671528	79671528	C	T	PHIP	c.3536-1G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79671528C>T	(Likely) pathogenic	1 lab	5f7673dc7a
17:36891586 CISD3 C>A	17	36891586	36891586	C	A	CISD3	c.*1878C>A	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36891586C>A	(Likely) benign	1 lab	5f76eab6df
8:11566326 GATA4 G>A	8	11566326	11566326	G	A	GATA4	c.505G>A	NM_001308093.3	NP_001295022.1:p.(Val169Met)	NC_000008.10:g.11566326G>A	VUS	1 lab	5f774be613
2:179433387 TTN A>G	2	179433387	179433387	A	G	TTN	c.77472T>C	NM_001267550.2	NP_001254479.2:p.(Arg25824=)	NC_000002.11:g.179433387A>G	VUS	1 lab	5f7b6646ab
7:128034658 IMPDH1 G>T	7	128034658	128034658	G	T	IMPDH1	c.1551-5C>A	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128034658G>T	VUS	1 lab	5f7bf5d991
8:144874763 SCRIB G>A	8	144874763	144874763	G	A	SCRIB	c.4220C>T	NM_182706.5	NP_874365.3:p.(Ala1407Val)	NC_000008.10:g.144874763G>A	VUS	1 lab	5f7d4b416e
22:36702095 MYH9 G>A	22	36702095	36702095	G	A	MYH9	c.2040C>T	NM_002473.6	NP_002464.1:p.(Ala680=)	NC_000022.10:g.36702095G>A	(Likely) benign	1 lab	5f7d8300f1
2:219204562 PNKD G>T	2	219204562	219204562	G	T	PNKD	c.293G>T	NM_015488.5	NP_056303.3:p.(Arg98Leu)	NC_000002.11:g.219204562G>T	VUS	1 lab	5f802b6cb2
8:70667793 SLCO5A1 C>T	8	70667793	70667793	C	T	SLCO5A1	c.1124G>A	NM_030958.3	NP_112220.2:p.(Arg375Gln)	NC_000008.10:g.70667793C>T	(Likely) benign	1 lab	5f82582e2b
2:182542830 NEUROD1 A>G	2	182542830	182542830	A	G	NEUROD1	c.758T>C	NM_002500.5	NP_002491.3:p.(Leu253Pro)	NC_000002.11:g.182542830A>G	VUS	1 lab	5f88f9ddc4
1:11293489 MTOR T>C	1	11293489	11293489	T	C	MTOR	c.2387A>G	NM_004958.4	NP_004949.1:p.(Asn796Ser)	NC_000001.10:g.11293489T>C	(Likely) benign	1 lab	5f890c776f
2:72719502 EXOC6B G>A	2	72719502	72719502	G	A	EXOC6B	c.1610C>T	NM_015189.3	NP_056004.1:p.(Thr537Ile)	NC_000002.11:g.72719502G>A	VUS	1 lab	5f89832c3a
10:90770290 FAS T>C	10	90770290	90770290	T	C	FAS	c.444-6T>C	NM_000043.4	NP_000034.1:p.?	NC_000010.10:g.90770290T>C	(Likely) benign	1 lab	2243c890f3
7:21698563 DNAH11 A>G	7	21698563	21698563	A	G	DNAH11	c.5242A>G	NM_001277115.2	NP_001264044.1:p.(Ile1748Val)	NC_000007.13:g.21698563A>G	VUS	1 lab	5f8d17e753
6:35420551 FANCE C>A	6	35420551	35420551	C	A	FANCE	c.229C>A	NM_021922.3	NP_068741.1:p.(Pro77Thr)	NC_000006.11:g.35420551C>A	VUS	1 lab	5f8ddc91b6
15:40699942 IVD C>T	15	40699942	40699942	C	T	IVD	c.234+16C>T	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40699942C>T	(Likely) benign	1 lab	5f8ea4b027
11:68193619 LRP5 A>G	11	68193619	68193619	A	G	LRP5	c.3601A>G	NM_002335.4	NP_002326.2:p.(Ile1201Val)	NC_000011.9:g.68193619A>G	(Likely) benign	1 lab	5f90736648
19:48946418 GRIN2D G>T	19	48946418	48946418	G	T	GRIN2D	c.3235G>T	NM_000836.4	NP_000827.2:p.(Ala1079Ser)	NC_000019.9:g.48946418G>T	VUS	1 lab	5f90a533e1
7:30961767 AQP1 C>T	7	30961767	30961767	C	T	AQP1	c.471C>T	NM_198098.4	NP_932766.1:p.(Thr157=)	NC_000007.13:g.30961767C>T	(Likely) benign	1 lab	5f93a74dce
1:45797695 MUTYH C>G	1	45797695	45797695	C	G	MUTYH	c.913G>C	NM_001048174.2	NP_001041639.1:p.(Ala305Pro)	NC_000001.10:g.45797695C>G	(Likely) pathogenic	1 lab	5f94e5c611
X:68059522 EFNB1 G>C	X	68059522	68059522	G	C	EFNB1	c.422G>C	NM_004429.5	NP_004420.1:p.(Ser141Thr)	NC_000023.10:g.68059522G>C	(Likely) benign	1 lab	5f96ff3436
22:36003456 MB C>T	22	36003456	36003456	C	T	MB	c.353G>A	NM_005368.3	NP_005359.1:p.(Ser118Asn)	NC_000022.10:g.36003456C>T	(Likely) benign	1 lab	5f970dba1e
18:47511108 MYO5B C>T	18	47511108	47511108	C	T	MYO5B	c.926G>A	NM_001080467.3	NP_001073936.1:p.(Arg309Gln)	NC_000018.9:g.47511108C>T	VUS	1 lab	5f990abb69
10:74267955 MICU1 T>TGA	10	74267955	74267958	T	TGA	MICU1	c.614_615dup	NM_006077.4	NP_006068.2:p.(Ile206SerfsTer30)	NC_000010.10:g.74267957_74267958dup	(Likely) pathogenic	1 lab	2135a074e2
X:48839830 GRIPAP1 A>T	X	48839830	48839830	A	T	GRIPAP1	c.1295T>A	NM_020137.5	NP_064522.4:p.(Met432Lys)	NC_000023.10:g.48839830A>T	(Likely) benign	1 lab	5f9a881662
2:80801321 CTNNA2 C>T	2	80801321	80801321	C	T	CTNNA2	c.1775C>T	NM_001282597.3	NP_001269526.1:p.(Ala592Val)	NC_000002.11:g.80801321C>T	VUS	1 lab	5f9aafabcc
16:1840636 IGFALS G>A	16	1840636	1840636	G	A	IGFALS	c.1783C>T	NM_004970.3	NP_004961.1:p.(Arg595Trp)	NC_000016.9:g.1840636G>A	VUS	1 lab	5f9b064436
22:50655638 SELENOO G>A	22	50655638	50655638	G	A	SELENOO	c.1850G>A	NM_031454.2	NP_113642.1:p.(Arg617Gln)	NC_000022.10:g.50655638G>A	VUS	1 lab	5f9b4f1258
17:2568744 PAFAH1B1 A>C	17	2568744	2568744	A	C	PAFAH1B1	c.111A>C	NM_000430.4	NP_000421.1:p.(Leu37Phe)	NC_000017.10:g.2568744A>C	VUS	1 lab	5f9c868baf
14:102452473 DYNC1H1 C>T	14	102452473	102452473	C	T	DYNC1H1	c.1911C>T	NM_001376.4	NP_001367.2:p.(His637=)	NC_000014.8:g.102452473C>T	(Likely) benign	1 lab	363590046a
7:56079537 PSPH T>A	7	56079537	56079537	T	A	PSPH	c.596A>T	NM_004577.4	NP_004568.2:p.(Asn199Ile)	NC_000007.13:g.56079537T>A	VUS	1 lab	5f9df70168
11:695853 TMEM80 T>C	11	695853	695853	T	C	TMEM80	c.19+7T>C	NM_001042463.3	NP_001035928.3:p.?	NC_000011.9:g.695853T>C	VUS	1 lab	5fa0b919cb
8:144658630 NAPRT G>A	8	144658630	144658630	G	A	NAPRT	c.994C>T	NM_145201.6	NP_660202.3:p.(Arg332Cys)	NC_000008.10:g.144658630G>A	(Likely) benign	1 lab	5fa2e4c447
17:62022372 SCN4A G>A	17	62022372	62022372	G	A	SCN4A	c.3769C>T	NM_000334.4	NP_000325.4:p.(Arg1257Trp)	NC_000017.10:g.62022372G>A	VUS	1 lab	5fa2f9770d
2:152404242 NEB C>T	2	152404242	152404242	C	T	NEB	c.20168G>A	NM_001164508.2	NP_001157980.2:p.(Arg6723Gln)	NC_000002.11:g.152404242C>T	VUS	1 lab	5fa4eae8fe
X:11207015 ARHGAP6 C>T	X	11207015	11207015	C	T	ARHGAP6	c.910G>A	NM_013427.3	NP_038286.2:p.(Glu304Lys)	NC_000023.10:g.11207015C>T	VUS	1 lab	5fa61b8a97
11:118339553 KMT2A C>T	11	118339553	118339553	C	T	KMT2A	c.496C>T	NM_001197104.2	NP_001184033.1:p.(Pro166Ser)	NC_000011.9:g.118339553C>T	(Likely) benign	1 lab	5fa6fdcf45
9:86474114 KIF27 T>A	9	86474114	86474114	T	A	KIF27	c.3107A>T	NM_017576.4	NP_060046.1:p.(Asn1036Ile)	NC_000009.11:g.86474114T>A	VUS	1 lab	5fa86c9d63
3:58139353 FLNB G>A	3	58139353	58139353	G	A	FLNB	c.6619G>A	NM_001457.4	NP_001448.2:p.(Glu2207Lys)	NC_000003.11:g.58139353G>A	VUS	1 lab	5fab275d9a
17:10305003 MYH8 C>G	17	10305003	10305003	C	G	MYH8	c.2788G>C	NM_002472.3	NP_002463.2:p.(Glu930Gln)	NC_000017.10:g.10305003C>G	VUS	1 lab	5fabb64de0
22:24580882 SUSD2 C>T	22	24580882	24580882	C	T	SUSD2	c.756C>T	NM_019601.4	NP_062547.1:p.(Ile252=)	NC_000022.10:g.24580882C>T	(Likely) benign	1 lab	5fadaa7557
13:49039156 RB1 AAGAAG>A	13	49039156	49039163	AAGAAG	A	RB1	c.2237_2241del	NM_000321.3	NP_000312.2:p.(Glu746GlyfsTer3)	NC_000013.10:g.49039159_49039163del	(Likely) pathogenic	1 lab	213ad90ca1
4:5564715 EVC2 T>A	4	5564715	5564715	T	A	EVC2	c.3787A>T	NM_147127.5	NP_667338.3:p.(Ile1263Phe)	NC_000004.11:g.5564715T>A	(Likely) benign	1 lab	5fb0d562c2
5:167929035 RARS1 G>A	5	167929035	167929035	G	A	RARS1	c.982G>A	NM_002887.4	NP_002878.2:p.(Val328Ile)	NC_000005.9:g.167929035G>A	(Likely) benign	1 lab	5fb0e3590e
1:11586892 DISP3 G>A	1	11586892	11586892	G	A	DISP3	c.2798G>A	NM_020780.2	NP_065831.1:p.(Arg933Gln)	NC_000001.10:g.11586892G>A	VUS	1 lab	5fb20cddd3
16:55905676 CES5A C>T	16	55905676	55905676	C	T	CES5A	c.279-1G>A	NM_001143685.2	NP_001137157.1:p.?	NC_000016.9:g.55905676C>T	(Likely) benign	1 lab	5fb3cd9b58
6:110948273 CDK19 A>C	6	110948273	110948273	A	C	CDK19	c.722T>G	NM_015076.5	NP_055891.1:p.(Ile241Arg)	NC_000006.11:g.110948273A>C	VUS	1 lab	5fb5cbd575
6:132206134 ENPP1 A>G	6	132206134	132206134	A	G	ENPP1	c.2375A>G	NM_006208.3	NP_006199.2:p.(Asn792Ser)	NC_000006.11:g.132206134A>G	VUS	1 lab	5fb6d10762
11:73811640 C2CD3 G>A	11	73811640	73811640	G	A	C2CD3	c.2662C>T	NM_001286577.2	NP_001273506.1:p.(Arg888Trp)	NC_000011.9:g.73811640G>A	VUS	1 lab	5fb6f6ec8b
3:172165995 GHSR C>G	3	172165995	172165995	C	G	GHSR	c.209G>C	NM_198407.2	NP_940799.1:p.(Arg70Pro)	NC_000003.11:g.172165995C>G	VUS	1 lab	5fb70ef230
15:89382267 ACAN C>T	15	89382267	89382267	C	T	ACAN	c.444C>T	NM_001369268.1	NP_001356197.1:p.(Val148=)	NC_000015.9:g.89382267C>T	(Likely) benign	1 lab	5fb8ce3bd9
3:126736059 PLXNA1 G>T	3	126736059	126736059	G	T	PLXNA1	c.3276+179G>T	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126736059G>T	VUS	1 lab	5fbcf1988c
13:110826813 COL4A1 G>A	13	110826813	110826813	G	A	COL4A1	c.3386C>T	NM_001845.6	NP_001836.3:p.(Pro1129Leu)	NC_000013.10:g.110826813G>A	VUS	1 lab	5fbe3334d0
6:15496651 JARID2 T>G	6	15496651	15496651	T	G	JARID2	c.1195T>G	NM_004973.4	NP_004964.2:p.(Ser399Ala)	NC_000006.11:g.15496651T>G	VUS	1 lab	5fbef9151c
12:122386948 CFAP251 G>A	12	122386948	122386948	G	A	CFAP251	c.1250G>A	NM_144668.6	NP_653269.3:p.(Arg417Gln)	NC_000012.11:g.122386948G>A	(Likely) benign	1 lab	5fbf79d077
1:241682985 FH G>A	1	241682985	241682985	G	A	FH	c.38C>T	NM_000143.4	NP_000134.2:p.(Pro13Leu)	NC_000001.10:g.241682985G>A	VUS	1 lab	5fc030d4f1
9:35808662 NPR2 C>T	9	35808662	35808662	C	T	NPR2	c.2869C>T	NM_003995.4	NP_003986.2:p.(Arg957Cys)	NC_000009.11:g.35808662C>T	VUS	1 lab	5fc0438dab
11:111963876 SDHD C>T	11	111963876	111963876	C	T	SDHD	c.315-1653C>T	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111963876C>T	VUS	1 lab	5fc084a77f
1:152277034 FLG C>T	1	152277034	152277034	C	T	FLG	c.10328G>A	NM_002016.2	NP_002007.1:p.(Arg3443Lys)	NC_000001.10:g.152277034C>T	(Likely) benign	1 lab	5fc3a9d8ab
5:126156820 LMNB1 C>T	5	126156820	126156820	C	T	LMNB1	c.1379C>T	NM_005573.4	NP_005564.1:p.(Ser460Phe)	NC_000005.9:g.126156820C>T	VUS	1 lab	5fc4e4f6b1
19:16974604 SIN3B C>T	19	16974604	16974604	C	T	SIN3B	c.1476C>T	NM_015260.4	NP_056075.1:p.(Phe492=)	NC_000019.9:g.16974604C>T	(Likely) benign	1 lab	213b27a6ef
11:110035648 ZC3H12C T>C	11	110035648	110035648	T	C	ZC3H12C	c.1838T>C	NM_033390.2	NP_203748.1:p.(Leu613Ser)	NC_000011.9:g.110035648T>C	VUS	1 lab	5fc6f76678
2:10582204 ODC1 C>T	2	10582204	10582204	C	T	ODC1	c.847G>A	NM_002539.3	NP_002530.1:p.(Ala283Thr)	NC_000002.11:g.10582204C>T	VUS	1 lab	5fc72aaac1
8:145732151 GPT G>A	8	145732151	145732151	G	A	GPT	c.1325G>A	NM_005309.3	NP_005300.1:p.(Arg442His)	NC_000008.10:g.145732151G>A	(Likely) benign	1 lab	5fc8c3b899
21:45843623 TRPM2 C>T	21	45843623	45843623	C	T	TRPM2	c.3549+8C>T	NM_003307.4	NP_003298.2:p.?	NC_000021.8:g.45843623C>T	(Likely) benign	1 lab	5fc95ea9e2
16:58564147 CNOT1 T>G	16	58564147	58564147	T	G	CNOT1	c.6279+3A>C	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58564147T>G	VUS	1 lab	5fcc135abe
8:11566352 GATA4 C>A	8	11566352	11566352	C	A	GATA4	c.531C>A	NM_001308093.3	NP_001295022.1:p.(Ala177=)	NC_000008.10:g.11566352C>A	(Likely) benign	1 lab	5fce076313
14:24792274 ADCY4 C>T	14	24792274	24792274	C	T	ADCY4	c.2178G>A	NM_001198568.2	NP_001185497.1:p.(Thr726=)	NC_000014.8:g.24792274C>T	(Likely) benign	1 lab	5fce0c5b20
3:58116527 FLNB G>A	3	58116527	58116527	G	A	FLNB	c.4282G>A	NM_001457.4	NP_001448.2:p.(Gly1428Ser)	NC_000003.11:g.58116527G>A	VUS	1 lab	5fcfa6fb03
2:55184989 EML6 G>A	2	55184989	55184989	G	A	EML6	c.4549G>A	NM_001039753.4	NP_001034842.2:p.(Asp1517Asn)	NC_000002.11:g.55184989G>A	VUS	1 lab	5fcfd645e2
7:92146909 PEX1 T>G	7	92146909	92146909	T	G	PEX1	c.920A>C	NM_000466.3	NP_000457.1:p.(His307Pro)	NC_000007.13:g.92146909T>G	(Likely) benign	1 lab	5fd06141e2
19:15565594 RASAL3 C>T	19	15565594	15565594	C	T	RASAL3	c.1832G>A	NM_022904.3	NP_075055.1:p.(Arg611Gln)	NC_000019.9:g.15565594C>T	VUS	1 lab	5fd2e87201
16:1621521 IFT140 T>G	16	1621521	1621521	T	G	IFT140	c.1539A>C	NM_014714.4	NP_055529.2:p.(Gln513His)	NC_000016.9:g.1621521T>G	VUS	1 lab	5fd3a84b23
17:79409480 BAHCC1 C>G	17	79409480	79409480	C	G	BAHCC1	c.1105C>G	NM_001377448.1	NP_001364377.1:p.(Leu369Val)	NC_000017.10:g.79409480C>G	(Likely) benign	1 lab	5fd545a0b0
2:179435079 TTN C>G	2	179435079	179435079	C	G	TTN	c.75780G>C	NM_001267550.2	NP_001254479.2:p.(Gln25260His)	NC_000002.11:g.179435079C>G	VUS	1 lab	5fd6640909
22:41537179 EP300 T>A	22	41537179	41537179	T	A	EP300	c.2006T>A	NM_001429.4	NP_001420.2:p.(Met669Lys)	NC_000022.10:g.41537179T>A	VUS	1 lab	213e93f542
16:2167655 PKD1 G>A	16	2167655	2167655	G	A	PKD1	c.1220C>T	NM_001009944.3	NP_001009944.3:p.(Pro407Leu)	NC_000016.9:g.2167655G>A	VUS	1 lab	5fd74f8289
16:1252227 CACNA1H CATGCCGCAGCCA>C	16	1252227	1252239	CATGCCGCAGCCA	C	CACNA1H	c.1778_1789del	NM_021098.3	NP_066921.2:p.(His593_Thr597delinsPro)	NC_000016.9:g.1252228_1252239del	(Likely) benign	1 lab	5fdab93357
1:76211557 ACADM C>A	1	76211557	76211557	C	A	ACADM	c.666C>A	NM_000016.6	NP_000007.1:p.(Phe222Leu)	NC_000001.10:g.76211557C>A	VUS	1 lab	5fdacdd6a7
19:18561759 ELL G>A	19	18561759	18561759	G	A	ELL	c.993C>T	NM_006532.4	NP_006523.1:p.(Ile331=)	NC_000019.9:g.18561759G>A	VUS	1 lab	5fdbe2cc6d
10:87966198 GRID1 C>T	10	87966198	87966198	C	T	GRID1	c.443G>A	NM_017551.3	NP_060021.1:p.(Arg148His)	NC_000010.10:g.87966198C>T	(Likely) benign	1 lab	5fddb2b7d6
X:132887616 GPC3 C>T	X	132887616	132887616	C	T	GPC3	c.925G>A	NM_004484.4	NP_004475.1:p.(Gly309Ser)	NC_000023.10:g.132887616C>T	VUS	1 lab	5fde48f655
2:210574972 MAP2 G>T	2	210574972	210574972	G	T	MAP2	c.5067G>T	NM_001375505.1	NP_001362434.1:p.(Gly1689=)	NC_000002.11:g.210574972G>T	(Likely) benign	1 lab	5fde86a5ba
20:49509204 ADNP G>A	20	49509204	49509204	G	A	ADNP	c.2047C>T	NM_001282531.3	NP_001269460.1:p.(His683Tyr)	NC_000020.10:g.49509204G>A	VUS	1 lab	5fdea62e75
13:25672111 PABPC3 T>C	13	25672111	25672111	T	C	PABPC3	c.1775T>C	NM_030979.3	NP_112241.2:p.(Leu592Pro)	NC_000013.10:g.25672111T>C	VUS	1 lab	5fdeecec0c
4:15575818 CC2D2A T>C	4	15575818	15575818	T	C	CC2D2A	c.3640T>C	NM_001378615.1	NP_001365544.1:p.(Tyr1214His)	NC_000004.11:g.15575818T>C	VUS	1 lab	5fe1fb1124
16:2152140 PKD1 G>A	16	2152140	2152140	G	A	PKD1	c.9319C>T	NM_001009944.3	NP_001009944.3:p.(Arg3107Cys)	NC_000016.9:g.2152140G>A	VUS	1 lab	5fe379c192
15:90213444 PLIN1 G>A	15	90213444	90213444	G	A	PLIN1	c.365C>T	NM_002666.5	NP_002657.3:p.(Thr122Ile)	NC_000015.9:g.90213444G>A	VUS	1 lab	5fe5e04916
X:153070096 PDZD4 A>C	X	153070096	153070096	A	C	PDZD4	c.1040T>G	NM_001303512.2	NP_001290441.1:p.(Leu347Arg)	NC_000023.10:g.153070096A>C	(Likely) benign	1 lab	5fe65ccffb
5:176813122 SLC34A1 G>T	5	176813122	176813122	G	T	SLC34A1	c.244G>T	NM_003052.5	NP_003043.3:p.(Glu82Ter)	NC_000005.9:g.176813122G>T	(Likely) pathogenic	1 lab	5fe75f7e08
15:33961642 RYR3 C>A	15	33961642	33961642	C	A	RYR3	c.5707C>A	NM_001036.6	NP_001027.3:p.(Leu1903Ile)	NC_000015.9:g.33961642C>A	VUS	1 lab	5fe800a13a
14:94088366 UNC79 C>T	14	94088366	94088366	C	T	UNC79	c.5003C>T	NM_001395159.1	NP_001382088.1:p.(Pro1668Leu)	NC_000014.8:g.94088366C>T	VUS	1 lab	5fe9870287
20:10639222 JAG1 G>GT	20	10639222	10639223	G	GT	JAG1	c.587_588insA	NM_000214.3	NP_000205.1:p.(Cys196Ter)	NC_000020.10:g.10639222_10639223insT	(Likely) pathogenic	1 lab	5fe9b7847c
13:108861888 LIG4 G>A	13	108861888	108861888	G	A	LIG4	c.1729C>T	NM_206937.2	NP_996820.1:p.(Arg577Cys)	NC_000013.10:g.108861888G>A	VUS	1 lab	5fe9bf3d7d
12:11420752 PRB3 G>T	12	11420752	11420752	G	T	PRB3	c.431C>A	NM_001394862.1	NP_001381791.1:p.(Pro144Gln)	NC_000012.11:g.11420752G>T	VUS	1 lab	5fea07de04
4:129012261 LARP1B G>A	4	129012261	129012261	G	A	LARP1B	c.464G>A	NM_018078.4	NP_060548.2:p.(Arg155Gln)	NC_000004.11:g.129012261G>A	VUS	1 lab	5fedfe293c
19:613832 HCN2 C>G	19	613832	613832	C	G	HCN2	c.1826-20C>G	NM_001194.4	NP_001185.3:p.?	NC_000019.9:g.613832C>G	(Likely) benign	1 lab	2246d37820
2:74466628 SLC4A5 G>C	2	74466628	74466628	G	C	SLC4A5	c.2153C>G	NM_133478.3	NP_597812.1:p.(Ser718Cys)	NC_000002.11:g.74466628G>C	VUS	1 lab	5fefd28dd9
14:23859525 MYH6 G>A	14	23859525	23859525	G	A	MYH6	c.3473C>T	NM_002471.4	NP_002462.2:p.(Ala1158Val)	NC_000014.8:g.23859525G>A	VUS	1 lab	60125e1a70
9:140693579 EHMT1 A>ACG	9	140693579	140693580	A	ACG	EHMT1	c.2607+213_2607+214insCG	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140693579_140693580insCG	VUS	1 lab	5ff1a23239
15:77324645 PSTPIP1 G>C	15	77324645	77324645	G	C	PSTPIP1	c.748G>C	NM_003978.3	NP_003969.2:p.(Glu250Gln)	NC_000015.9:g.77324645G>C	(Likely) pathogenic	1 lab	224f211c4f
16:3779405 CREBBP ACT>A	16	3779405	3779409	ACT	A	CREBBP	c.5641_5642del	NM_004380.3	NP_004371.2:p.(Leu1882AlafsTer83)	NC_000016.9:g.3779408_3779409del	(Likely) pathogenic	1 lab	5ff5129200
17:40696050 NAGLU C>T	17	40696050	40696050	C	T	NAGLU	c.2026C>T	NM_000263.4	NP_000254.2:p.(Arg676Trp)	NC_000017.10:g.40696050C>T	(Likely) benign	1 lab	5ff541b48e
7:150715141 ATG9B G>C	7	150715141	150715141	G	C	ATG9B	c.1873-4C>G	NM_001317056.2	NP_001303985.1:p.?	NC_000007.13:g.150715141G>C	(Likely) benign	1 lab	5ff8a39145
6:51889373 PKHD1 G>A	6	51889373	51889373	G	A	PKHD1	c.5235C>T	NM_138694.4	NP_619639.3:p.(Phe1745=)	NC_000006.11:g.51889373G>A	(Likely) benign	1 lab	5ff90a196f
2:179585677 TTN G>A	2	179585677	179585677	G	A	TTN	c.23069C>T	NM_001267550.2	NP_001254479.2:p.(Ala7690Val)	NC_000002.11:g.179585677G>A	(Likely) benign	1 lab	5ffa2541b8
12:48528601 PFKM C>T	12	48528601	48528601	C	T	PFKM	c.736C>T	NM_000289.6	NP_000280.1:p.(Arg246Ter)	NC_000012.11:g.48528601C>T	(Likely) pathogenic	1 lab	5ffaff752d
1:171303686 FMO4 G>A	1	171303686	171303686	G	A	FMO4	c.964G>A	NM_002022.3	NP_002013.1:p.(Asp322Asn)	NC_000001.10:g.171303686G>A	VUS	1 lab	5ffb732947
18:59741998 PIGN C>T	18	59741998	59741998	C	T	PIGN	c.2619+14G>A	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59741998C>T	(Likely) benign	1 lab	2255c87793
5:171766563 SH3PXD2B T>C	5	171766563	171766563	T	C	SH3PXD2B	c.1546A>G	NM_001017995.3	NP_001017995.1:p.(Met516Val)	NC_000005.9:g.171766563T>C	(Likely) benign	1 lab	600099e5d0
1:39913425 MACF1 A>G	1	39913425	39913425	A	G	MACF1	c.19823A>G	NM_001394062.1	NP_001380991.1:p.(Asn6608Ser)	NC_000001.10:g.39913425A>G	(Likely) benign	1 lab	6002cb3a0f
15:77324736 PSTPIP1 G>A	15	77324736	77324736	G	A	PSTPIP1	c.838+1G>A	NM_003978.5	NP_003969.2:p.?	NC_000015.9:g.77324736G>A	VUS	1 lab	600546c7af
19:52447413 ZNF613 A>G	19	52447413	52447413	A	G	ZNF613	c.277A>G	NM_001031721.4	NP_001026891.2:p.(Lys93Glu)	NC_000019.9:g.52447413A>G	(Likely) benign	1 lab	600616ce32
4:39219697 WDR19 C>T	4	39219697	39219697	C	T	WDR19	c.1451C>T	NM_025132.4	NP_079408.3:p.(Thr484Ile)	NC_000004.11:g.39219697C>T	VUS	1 lab	60091b24e7
X:24382441 SUPT20HL1 CTAGCTGCTGCTG>C	X	24382441	24382453	CTAGCTGCTGCTG	C	SUPT20HL1	c.1565_1576del	NM_001136234.3	NP_001129706.3:p.(Leu522_Ala526delinsPro)	NC_000023.10:g.24382442_24382453del	(Likely) benign	1 lab	6009f74b27
X:7268296 STS C>G	X	7268296	7268296	C	G	STS	c.1731C>G	NM_001320752.2	NP_001307681.2:p.(Ser577Arg)	NC_000023.10:g.7268296C>G	(Likely) benign	1 lab	600a464d75
17:42635272 FZD2 G>T	17	42635272	42635272	G	T	FZD2	c.216G>T	NM_001466.4	NP_001457.1:p.(Glu72Asp)	NC_000017.10:g.42635272G>T	VUS	1 lab	600ab4e7f5
1:43913985 SZT2 C>T	1	43913985	43913985	C	T	SZT2	c.9799C>T	NM_001365999.1	NP_001352928.1:p.(Arg3267Trp)	NC_000001.10:g.43913985C>T	VUS	1 lab	600ac37574
20:43048386 HNF4A C>T	20	43048386	43048386	C	T	HNF4A	c.762C>T	NM_000457.5	NP_000448.3:p.(His254=)	NC_000020.10:g.43048386C>T	(Likely) benign	1 lab	600bb6a924
1:27023106 ARID1A A>C	1	27023106	27023106	A	C	ARID1A	c.212A>C	NM_006015.6	NP_006006.3:p.(Lys71Thr)	NC_000001.10:g.27023106A>C	VUS	1 lab	600be65f17
3:122003438 CASR C>G	3	122003438	122003438	C	G	CASR	c.2637C>G	NM_000388.4	NP_000379.3:p.(His879Gln)	NC_000003.11:g.122003438C>G	VUS	1 lab	2256290e28
22:38477138 SLC16A8 G>C	22	38477138	38477138	G	C	SLC16A8	c.907C>G	NM_013356.3	NP_037488.2:p.(Arg303Gly)	NC_000022.10:g.38477138G>C	VUS	1 lab	600d7f17a1
11:92088471 FAT3 G>A	11	92088471	92088471	G	A	FAT3	c.3193G>A	NM_001367949.2	NP_001354878.1:p.(Val1065Met)	NC_000011.9:g.92088471G>A	VUS	1 lab	600f305d88
16:10133931 GRIN2A CCA>C	16	10133931	10133938	CCA	C	GRIN2A	c.415-101525_415-101524del	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.10133937_10133938del	(Likely) benign	1 lab	600f81c301
10:88476158 LDB3 G>C	10	88476158	88476158	G	C	LDB3	c.1306G>C	NM_007078.3	NP_009009.1:p.(Ala436Pro)	NC_000010.10:g.88476158G>C	(Likely) benign	1 lab	60113ccde5
15:91454692 MAN2A2 G>T	15	91454692	91454692	G	T	MAN2A2	c.2021G>T	NM_006122.4	NP_006113.2:p.(Arg674Leu)	NC_000015.9:g.91454692G>T	VUS	1 lab	6011b6d31d
2:152402852 NEB C>T	2	152402852	152402852	C	T	NEB	c.20466+7G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152402852C>T	(Likely) benign	1 lab	60120b462e
12:56847476 MIP C>T	12	56847476	56847476	C	T	MIP	c.424G>A	NM_012064.4	NP_036196.1:p.(Val142Met)	NC_000012.11:g.56847476C>T	VUS	1 lab	2141d7899d
16:57719716 ADGRG3 G>A	16	57719716	57719716	G	A	ADGRG3	c.1418G>A	NM_170776.5	NP_740746.4:p.(Arg473Gln)	NC_000016.9:g.57719716G>A	VUS	1 lab	601670a95b
1:44476405 SLC6A9 G>T	1	44476405	44476405	G	T	SLC6A9	c.180C>A	NM_001024845.3	NP_001020016.1:p.(Asn60Lys)	NC_000001.10:g.44476405G>T	VUS	1 lab	6018178e53
5:176939227 DDX41 G>C	5	176939227	176939227	G	C	DDX41	c.1622-20C>G	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176939227G>C	(Likely) benign	1 lab	2257c4c1eb
4:170429945 NEK1 C>T	4	170429945	170429945	C	T	NEK1	c.1724G>A	NM_001199397.3	NP_001186326.1:p.(Gly575Glu)	NC_000004.11:g.170429945C>T	VUS	1 lab	601a8e853d
8:27884489 NUGGC C>G	8	27884489	27884489	C	G	NUGGC	c.2235G>C	NM_001010906.2	NP_001010906.1:p.(Lys745Asn)	NC_000008.10:g.27884489C>G	VUS	1 lab	601b47e537
8:68397248 CPA6 A>G	8	68397248	68397248	A	G	CPA6	c.637-224T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68397248A>G	(Likely) benign	1 lab	22582d7be9
10:3193516 PITRM1 G>T	10	3193516	3193516	G	T	PITRM1	c.1661C>A	NM_014889.4	NP_055704.2:p.(Ala554Asp)	NC_000010.10:g.3193516G>T	VUS	1 lab	601c64d2f8
10:69281607 CTNNA3 C>T	10	69281607	69281607	C	T	CTNNA3	c.572G>A	NM_013266.4	NP_037398.2:p.(Arg191His)	NC_000010.10:g.69281607C>T	VUS	1 lab	601cf8cd3f
9:73225515 TRPM3 A>G	9	73225515	73225515	A	G	TRPM3	c.2667+10T>C	NM_001366145.2	NP_001353074.1:p.?	NC_000009.11:g.73225515A>G	(Likely) benign	1 lab	601e22b5e2
1:1269038 TAS1R3 G>A	1	1269038	1269038	G	A	TAS1R3	c.1753G>A	NM_152228.3	NP_689414.2:p.(Ala585Thr)	NC_000001.10:g.1269038G>A	VUS	1 lab	601edded3d
19:39055598 RYR1 G>A	19	39055598	39055598	G	A	RYR1	c.12625-1G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39055598G>A	VUS	1 lab	601f50a558
1:228447271 OBSCN C>T	1	228447271	228447271	C	T	OBSCN	c.4931C>T	NM_001386125.1	NP_001373054.1:p.(Ala1644Val)	NC_000001.10:g.228447271C>T	VUS	1 lab	602014531a
6:32816889 TAP1 C>A	6	32816889	32816889	C	A	TAP1	c.1255G>T	NM_000593.6	NP_000584.3:p.(Gly419Cys)	NC_000006.11:g.32816889C>A	(Likely) benign	1 lab	6021ac0329
2:25470503 DNMT3A C>A	2	25470503	25470503	C	A	DNMT3A	c.971G>T	NM_022552.5	NP_072046.2:p.(Gly324Val)	NC_000002.11:g.25470503C>A	VUS	1 lab	6022ab568e
3:57990471 FLNB T>TTC	3	57990471	57990473	T	TTC	FLNB				NC_000003.11:g.57990472_57990473insCT	VUS	1 lab	60232dfd60
18:29110998 DSG2 G>A	18	29110998	29110998	G	A	DSG2	c.1063G>A	NM_001943.3	NP_001934.2:p.(Ala355Thr)	NC_000018.9:g.29110998G>A	(Likely) benign	1 lab	2258547c6b
2:227915758 COL4A4 G>A	2	227915758	227915758	G	A	COL4A4	c.3085C>T	NM_000092.5	NP_000083.3:p.(Pro1029Ser)	NC_000002.11:g.227915758G>A	VUS	1 lab	602a79eacf
13:100181849 TM9SF2 G>GTA	13	100181849	100181851	G	GTA	TM9SF2	c.461+2_461+3dup	NM_004800.3	NP_004791.1:p.?	NC_000013.10:g.100181850_100181851dup	VUS	1 lab	602d63ec09
12:113612672 DDX54 A>G	12	113612672	113612672	A	G	DDX54	c.936+8T>C	NM_024072.4	NP_076977.3:p.?	NC_000012.11:g.113612672A>G	(Likely) benign	1 lab	602dcc7625
15:89402433 ACAN C>A	15	89402433	89402433	C	A	ACAN	c.6617C>A	NM_001369268.1	NP_001356197.1:p.(Thr2206Asn)	NC_000015.9:g.89402433C>A	(Likely) benign	1 lab	602dee6c7e
12:12300317 LRP6 T>C	12	12300317	12300317	T	C	LRP6	c.3380A>G	NM_002336.3	NP_002327.2:p.(Glu1127Gly)	NC_000012.11:g.12300317T>C	(Likely) benign	1 lab	602e8eda50
16:2034903 GFER G>C	16	2034903	2034903	G	C	GFER	c.414G>C	NM_005262.3	NP_005253.3:p.(Lys138Asn)	NC_000016.9:g.2034903G>C	VUS	1 lab	602e9f1756
19:37368570 ZNF345 C>A	19	37368570	37368570	C	A	ZNF345	c.838C>A	NM_001242472.2	NP_001229401.1:p.(His280Asn)	NC_000019.9:g.37368570C>A	VUS	1 lab	602ebe5b95
17:17122402 FLCN AGAG>A	17	17122402	17122410	AGAG	A	FLCN	c.990_992del	NM_144997.7	NP_659434.2:p.(Ser331del)	NC_000017.10:g.17122408_17122410del	VUS	1 lab	602ed81d4b
9:116930139 COL27A1 C>T	9	116930139	116930139	C	T	COL27A1	c.304C>T	NM_032888.4	NP_116277.2:p.(Leu102=)	NC_000009.11:g.116930139C>T	(Likely) benign	1 lab	602f0758db
9:73150960 TRPM3 G>A	9	73150960	73150960	G	A	TRPM3	c.5069C>T	NM_001366145.2	NP_001353074.1:p.(Ser1690Phe)	NC_000009.11:g.73150960G>A	VUS	1 lab	602f81d7dc
4:100445700 C4orf17 G>C	4	100445700	100445700	G	C	C4orf17	c.360G>C	NM_032149.3	NP_115525.2:p.(Glu120Asp)	NC_000004.11:g.100445700G>C	(Likely) benign	1 lab	602fd801c4
X:153880540 CTAG2 G>A	X	153880540	153880540	G	A	CTAG2	c.406C>T	NM_172377.5	NP_758965.2:p.(Arg136Ter)	NC_000023.10:g.153880540G>A	(Likely) benign	1 lab	6030d3fbf7
4:160277029 RAPGEF2 A>AGCC	4	160277029	160277032	A	AGCC	RAPGEF2	c.4677_4679dup	NM_001394067.2	NP_001380996.1:p.(Pro1562dup)	NC_000004.11:g.160277030_160277032dup	VUS	1 lab	6031c97eea
X:11682563 ARHGAP6 C>T	X	11682563	11682563	C	T	ARHGAP6	c.386G>A	NM_013427.3	NP_038286.2:p.(Gly129Asp)	NC_000023.10:g.11682563C>T	(Likely) benign	1 lab	6031e70860
11:6412689 SMPD1 G>A	11	6412689	6412689	G	A	SMPD1	c.394G>A	NM_000543.5	NP_000534.3:p.(Val132Met)	NC_000011.9:g.6412689G>A	VUS	1 lab	60328f94b5
7:40118329 CDK13 G>C	7	40118329	40118329	G	C	CDK13	c.2908G>C	NM_003718.5	NP_003709.3:p.(Ala970Pro)	NC_000007.13:g.40118329G>C	(Likely) benign	1 lab	6033429e91
2:61259027 PEX13 G>T	2	61259027	61259027	G	T	PEX13	c.566G>T	NM_002618.4	NP_002609.1:p.(Arg189Leu)	NC_000002.11:g.61259027G>T	VUS	1 lab	6035132a2f
16:27709791 KATNIP A>AAAGGCC	16	27709791	27709797	A	AAAGGCC	KATNIP	c.1084_1089dup	NM_015202.5	NP_056017.4:p.(Lys362_Ala363dup)	NC_000016.9:g.27709792_27709797dup	VUS	1 lab	60389deb8a
1:120462920 NOTCH2 G>A	1	120462920	120462920	G	A	NOTCH2	c.5411C>T	NM_024408.4	NP_077719.2:p.(Ser1804Leu)	NC_000001.10:g.120462920G>A	VUS	1 lab	6039556a9e
8:72229909 EYA1 C>T	8	72229909	72229909	C	T	EYA1	c.434G>A	NM_000503.6	NP_000494.2:p.(Gly145Asp)	NC_000008.10:g.72229909C>T	VUS	1 lab	603a33ee81
5:89924432 ADGRV1 C>T	5	89924432	89924432	C	T	ADGRV1	c.1292C>T	NM_032119.4	NP_115495.3:p.(Ala431Val)	NC_000005.9:g.89924432C>T	(Likely) benign	1 lab	2144cbc081
19:42801376 PAFAH1B3 T>C	19	42801376	42801376	T	C	PAFAH1B3	c.550A>G	NM_002573.4	NP_002564.1:p.(Thr184Ala)	NC_000019.9:g.42801376T>C	VUS	1 lab	603d1eb462
12:57594497 LRP1 G>A	12	57594497	57594497	G	A	LRP1	c.10124G>A	NM_002332.3	NP_002323.2:p.(Arg3375Gln)	NC_000012.11:g.57594497G>A	VUS	1 lab	603d63fba1
10:103868872 LDB1 T>C	10	103868872	103868872	T	C	LDB1	c.919A>G	NM_001113407.3	NP_001106878.1:p.(Met307Val)	NC_000010.10:g.103868872T>C	VUS	1 lab	603da2f69c
8:38285913 FGFR1 G>GTCATCATCA	8	38285913	38285933	G	GTCATCATCA	FGFR1	c.390_398dup	NM_023110.3	NP_075598.2:p.(Asp131_Asp133dup)	NC_000008.10:g.38285925_38285933dup	VUS	1 lab	603dc71ba4
6:33236289 VPS52 C>T	6	33236289	33236289	C	T	VPS52	c.686G>A	NM_022553.6	NP_072047.4:p.(Arg229Gln)	NC_000006.11:g.33236289C>T	(Likely) benign	1 lab	603e2a62f4
13:39264747 FREM2 A>T	13	39264747	39264747	A	T	FREM2	c.3266A>T	NM_207361.6	NP_997244.4:p.(His1089Leu)	NC_000013.10:g.39264747A>T	(Likely) benign	1 lab	603e33cf5a
8:22021447 SFTPC C>T	8	22021447	22021447	C	T	SFTPC	c.469C>T	NM_001317778.2	NP_001304707.1:p.(Gln157Ter)	NC_000008.10:g.22021447C>T	VUS	1 lab	603f572d51
12:22068744 ABCC9 T>G	12	22068744	22068744	T	G	ABCC9	c.674A>C	NM_020297.4	NP_064693.2:p.(Lys225Thr)	NC_000012.11:g.22068744T>G	VUS	1 lab	603f7bbf03
6:30630440 DHX16 C>A	6	30630440	30630440	C	A	DHX16	c.1508G>T	NM_003587.5	NP_003578.2:p.(Arg503Leu)	NC_000006.11:g.30630440C>A	VUS	1 lab	60401994e5
1:145304589 NBPF10 G>A	1	145304589	145304589	G	A	NBPF10	c.1522G>A	NM_001302371.3	NP_001289300.1:p.(Asp508Asn)	NC_000001.10:g.145304589G>A	VUS	1 lab	6040b053a8
7:47925332 PKD1L1 G>A	7	47925332	47925332	G	A	PKD1L1	c.3157C>T	NM_138295.5	NP_612152.1:p.(Arg1053Cys)	NC_000007.13:g.47925332G>A	VUS	1 lab	6041503494
1:40766952 COL9A2 C>T	1	40766952	40766952	C	T	COL9A2	c.1972G>A	NM_001852.4	NP_001843.1:p.(Val658Met)	NC_000001.10:g.40766952C>T	VUS	1 lab	2144ccde9d
9:138395527 MRPS2 C>T	9	138395527	138395527	C	T	MRPS2	c.439C>T	NM_016034.5	NP_057118.1:p.(Arg147Cys)	NC_000009.11:g.138395527C>T	VUS	1 lab	604220b60a
2:98349804 ZAP70 C>T	2	98349804	98349804	C	T	ZAP70	c.835C>T	NM_001079.3	NP_001070.2:p.(His279Tyr)	NC_000002.11:g.98349804C>T	VUS	1 lab	225873cb66
X:53438748 SMC1A C>T	X	53438748	53438748	C	T	SMC1A	c.1217G>A	NM_006306.4	NP_006297.2:p.(Arg406His)	NC_000023.10:g.53438748C>T	VUS	1 lab	60465b4229
19:36227810 KMT2B C>T	19	36227810	36227810	C	T	KMT2B	c.7298-3C>T	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36227810C>T	(Likely) benign	1 lab	60478fab94
18:77918039 PARD6G G>A	18	77918039	77918039	G	A	PARD6G	c.746C>T	NM_032510.4	NP_115899.1:p.(Pro249Leu)	NC_000018.9:g.77918039G>A	VUS	1 lab	6049024634
2:27164854 DPYSL5 G>A	2	27164854	27164854	G	A	DPYSL5	c.1126G>A	NM_020134.4	NP_064519.2:p.(Val376Ile)	NC_000002.11:g.27164854G>A	(Likely) benign	1 lab	604a9d338a
12:123340422 HIP1R G>A	12	123340422	123340422	G	A	HIP1R	c.1100G>A	NM_003959.3	NP_003950.1:p.(Arg367His)	NC_000012.11:g.123340422G>A	VUS	1 lab	604c1a551a
3:78666895 ROBO1 C>T	3	78666895	78666895	C	T	ROBO1	c.4172G>A	NM_002941.4	NP_002932.1:p.(Ser1391Asn)	NC_000003.11:g.78666895C>T	VUS	1 lab	604d24b77b
10:79581058 DLG5 G>A	10	79581058	79581058	G	A	DLG5	c.3184C>T	NM_004747.4	NP_004738.3:p.(His1062Tyr)	NC_000010.10:g.79581058G>A	VUS	1 lab	604e83f0b4
5:37211526 CPLANE1 G>A	5	37211526	37211526	G	A	CPLANE1	c.2920+2135C>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37211526G>A	(Likely) benign	1 lab	2258efc58d
12:111785783 CUX2 G>A	12	111785783	111785783	G	A	CUX2	c.4115G>A	NM_015267.4	NP_056082.2:p.(Arg1372Gln)	NC_000012.11:g.111785783G>A	VUS	1 lab	60520df8e8
2:170681375 METTL5 C>A	2	170681375	170681375	C	A	METTL5	c.-268G>T	NM_014168.4	NP_054887.2:p.?	NC_000002.11:g.170681375C>A	(Likely) benign	1 lab	60529fd71f
11:6190884 OR52B2 G>A	11	6190884	6190884	G	A	OR52B2	c.673C>T	NM_001004052.1	NP_001004052.1:p.(Arg225Ter)	NC_000011.9:g.6190884G>A	VUS	1 lab	6054e5b8c2
12:90021497 ATP2B1 T>C	12	90021497	90021497	T	C	ATP2B1	c.929-4A>G	NM_001366521.1	NP_001353450.1:p.?	NC_000012.11:g.90021497T>C	(Likely) benign	1 lab	6055a7df81
2:51146371 NRXN1 G>T	2	51146371	51146371	G	T	NRXN1	c.832+2636C>A	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.51146371G>T	VUS	1 lab	6055e9e1a7
16:88783612 PIEZO1 G>A	16	88783612	88783612	G	A	PIEZO1	c.6479C>T	NM_001142864.4	NP_001136336.2:p.(Pro2160Leu)	NC_000016.9:g.88783612G>A	VUS	1 lab	60566903e1
1:247267298 ZNF669 G>T	1	247267298	247267298	G	T	ZNF669	c.3+201C>A	NM_001142572.2	NP_001136044.1:p.?	NC_000001.10:g.247267298G>T	VUS	1 lab	6057699583
9:73254016 TRPM3 C>T	9	73254016	73254016	C	T	TRPM3	c.1541G>A	NM_001366145.2	NP_001353074.1:p.(Arg514His)	NC_000009.11:g.73254016C>T	(Likely) benign	1 lab	605851f0ac
4:88929248 PKD2 CA>C	4	88929248	88929249	CA	C	PKD2	c.364del	NM_000297.4	NP_000288.1:p.(Ser122AlafsTer10)	NC_000004.11:g.88929249del	(Likely) pathogenic	1 lab	6058a08ef4
22:19711886 GP1BB C>T	22	19711886	19711886	C	T	GP1BB	c.520C>T	NM_000407.5	NP_000398.1:p.(Arg174Cys)	NC_000022.10:g.19711886C>T	(Likely) benign	1 lab	6059b21f27
19:15271739 NOTCH3 G>A	19	15271739	15271739	G	A	NOTCH3	c.6700C>T	NM_000435.3	NP_000426.2:p.(Arg2234Cys)	NC_000019.9:g.15271739G>A	VUS	1 lab	6059e46819
12:51122332 DIP2B T>A	12	51122332	51122332	T	A	DIP2B	c.3512T>A	NM_173602.3	NP_775873.2:p.(Met1171Lys)	NC_000012.11:g.51122332T>A	VUS	1 lab	605ac20a1e
8:42693110 THAP1 C>T	8	42693110	42693110	C	T	THAP1	c.637G>A	NM_018105.3	NP_060575.1:p.(Ala213Thr)	NC_000008.10:g.42693110C>T	(Likely) benign	1 lab	2145bd276b
2:152349875 NEB T>C	2	152349875	152349875	T	C	NEB	c.24757A>G	NM_001164508.2	NP_001157980.2:p.(Ile8253Val)	NC_000002.11:g.152349875T>C	VUS	1 lab	605bb57e04
14:92472795 TRIP11 G>GA	14	92472795	92472798	G	GA	TRIP11	c.1528-4dup	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92472798dup	(Likely) benign	1 lab	606092a129
6:27860872 H2AC17 G>A	6	27860872	27860872	G	A	H2AC17	c.56C>T	NM_003514.2	NP_003505.1:p.(Ser19Phe)	NC_000006.11:g.27860872G>A	VUS	1 lab	6060f4eb39
5:176025791 GPRIN1 A>G	5	176025791	176025791	A	G	GPRIN1	c.1045T>C	NM_052899.3	NP_443131.2:p.(Cys349Arg)	NC_000005.9:g.176025791A>G	VUS	1 lab	60612fc869
21:47532484 COL6A2 A>AG	21	47532484	47532486	A	AG	COL6A2	c.709dup	NM_001849.4	NP_001840.3:p.(Val237GlyfsTer39)	NC_000021.8:g.47532486dup	VUS	1 lab	60613f79ca
11:103047010 DYNC2H1 G>A	11	103047010	103047010	G	A	DYNC2H1	c.5721G>A	NM_001377.3	NP_001368.2:p.(Met1907Ile)	NC_000011.9:g.103047010G>A	VUS	1 lab	60628b8c8e
9:88938118 TUT7 C>G	9	88938118	88938118	C	G	TUT7	c.2547G>C	NM_024617.4	NP_078893.2:p.(Glu849Asp)	NC_000009.11:g.88938118C>G	(Likely) benign	1 lab	60636dcc70
10:70210007 DNA2 GA>G	10	70210007	70210019	GA	G	DNA2	c.720-4del	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70210019del	(Likely) benign	1 lab	60639c53a9
20:60900592 LAMA5 C>T	20	60900592	60900592	C	T	LAMA5	c.5309G>A	NM_005560.6	NP_005551.3:p.(Arg1770Gln)	NC_000020.10:g.60900592C>T	VUS	1 lab	6064656302
8:7217166 ZNF705G T>C	8	7217166	7217166	T	C	ZNF705G	c.293A>G	NM_001164457.3	NP_001157929.1:p.(Lys98Arg)	NC_000008.10:g.7217166T>C	VUS	1 lab	6064b060a9
14:103470696 CDC42BPB C>T	14	103470696	103470696	C	T	CDC42BPB	c.352-336G>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103470696C>T	(Likely) benign	1 lab	6064b0a957
19:5905091 VMAC C>T	19	5905091	5905091	C	T	VMAC	c.190C>T	NM_001017921.4	NP_001017921.1:p.(Arg64Cys)	NC_000019.9:g.5905091C>T	VUS	1 lab	60661f3ebb
7:56084999 PSPH C>T	7	56084999	56084999	C	T	PSPH	c.349G>A	NM_004577.4	NP_004568.2:p.(Glu117Lys)	NC_000007.13:g.56084999C>T	VUS	1 lab	60666b5943
20:50235591 ATP9A G>A	20	50235591	50235591	G	A	ATP9A	c.2116-9C>T	NM_006045.3	NP_006036.1:p.?	NC_000020.10:g.50235591G>A	(Likely) benign	1 lab	6068407029
11:118971122 DPAGT1 C>T	11	118971122	118971122	C	T	DPAGT1	c.497-4G>A	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118971122C>T	VUS	1 lab	6068f98fd8
X:18593567 CDKL5 G>T	X	18593567	18593567	G	T	CDKL5	c.239G>T	NM_001323289.2	NP_001310218.1:p.(Arg80Leu)	NC_000023.10:g.18593567G>T	VUS	1 lab	60695e72c2
18:77798513 RBFA G>C	18	77798513	77798513	G	C	RBFA	c.387G>C	NM_024805.3	NP_079081.2:p.(Leu129=)	NC_000018.9:g.77798513G>C	(Likely) benign	1 lab	606967521d
12:56478903 ERBB3 T>C	12	56478903	56478903	T	C	ERBB3	c.359T>C	NM_001982.4	NP_001973.2:p.(Met120Thr)	NC_000012.11:g.56478903T>C	(Likely) benign	1 lab	606b333010
1:159163754 CADM3 G>A	1	159163754	159163754	G	A	CADM3	c.615G>A	NM_001127173.3	NP_001120645.1:p.(Ala205=)	NC_000001.10:g.159163754G>A	(Likely) benign	1 lab	606b59ee5e
2:170034504 LRP2 G>C	2	170034504	170034504	G	C	LRP2	c.10202C>G	NM_004525.3	NP_004516.2:p.(Thr3401Arg)	NC_000002.11:g.170034504G>C	VUS	1 lab	606bc62487
12:52822506 KRT75 C>T	12	52822506	52822506	C	T	KRT75	c.1057G>A	NM_004693.3	NP_004684.2:p.(Ala353Thr)	NC_000012.11:g.52822506C>T	VUS	1 lab	606e700e20
10:92672702 ANKRD1 T>C	10	92672702	92672702	T	C	ANKRD1	c.881A>G	NM_014391.3	NP_055206.2:p.(His294Arg)	NC_000010.10:g.92672702T>C	VUS	1 lab	214773656e
17:48435670 XYLT2 C>A	17	48435670	48435670	C	A	XYLT2	c.2044C>A	NM_022167.4	NP_071450.2:p.(Pro682Thr)	NC_000017.10:g.48435670C>A	(Likely) benign	1 lab	607686d7bb
1:60314033 HOOK1 T>C	1	60314033	60314033	T	C	HOOK1	c.976T>C	NM_015888.6	NP_056972.1:p.(Tyr326His)	NC_000001.10:g.60314033T>C	VUS	1 lab	6076ef087c
14:105693009 BRF1 A>AG	14	105693009	105693016	A	AG	BRF1	c.876dup	NM_001519.4	NP_001510.2:p.(Ser293LeufsTer15)	NC_000014.8:g.105693016dup	(Likely) pathogenic	1 lab	6077e51199
6:132181518 ENPP1 C>T	6	132181518	132181518	C	T	ENPP1	c.796-9C>T	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132181518C>T	(Likely) benign	1 lab	6079bfd830
X:55033333 APEX2 G>A	X	55033333	55033333	G	A	APEX2	c.1022G>A	NM_014481.4	NP_055296.2:p.(Arg341His)	NC_000023.10:g.55033333G>A	VUS	1 lab	607a1ea008
7:152099103 KMT2C G>A	7	152099103	152099103	G	A	KMT2C	c.161+33608C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099103G>A	(Likely) benign	1 lab	607b6500b2
19:12885514 HOOK2 G>A	19	12885514	12885514	G	A	HOOK2	c.173C>T	NM_013312.3	NP_037444.2:p.(Ser58Leu)	NC_000019.9:g.12885514G>A	VUS	1 lab	607baccbcb
X:153995624 DKC1 A>G	X	153995624	153995624	A	G	DKC1	c.607A>G	NM_001363.5	NP_001354.1:p.(Lys203Glu)	NC_000023.10:g.153995624A>G	VUS	1 lab	607bfc750c
1:6278425 RNF207 G>A	1	6278425	6278425	G	A	RNF207	c.1729G>A	NM_207396.3	NP_997279.2:p.(Ala577Thr)	NC_000001.10:g.6278425G>A	(Likely) benign	1 lab	225ef15ad0
1:103461457 COL11A1 T>C	1	103461457	103461457	T	C	COL11A1	c.2303A>G	NM_001854.4	NP_001845.3:p.(Asp768Gly)	NC_000001.10:g.103461457T>C	VUS	1 lab	607ca4faba
6:132217367 ENPP1 AACAC>A	6	132217367	132217416	AACAC	A	ENPP1				NC_000006.11:g.132217413_132217416del	VUS	1 lab	607f9aed5d
17:34072450 GAS2L2 G>A	17	34072450	34072450	G	A	GAS2L2	c.2066C>T	NM_139285.4	NP_644814.1:p.(Pro689Leu)	NC_000017.10:g.34072450G>A	(Likely) benign	1 lab	6080f8ae6d
21:44483055 CBS C>T	21	44483055	44483055	C	T	CBS	c.954+8G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44483055C>T	(Likely) benign	1 lab	6081280fa5
4:6303920 WFS1 A>G	4	6303920	6303920	A	G	WFS1	c.2398A>G	NM_006005.3	NP_005996.2:p.(Lys800Glu)	NC_000004.11:g.6303920A>G	VUS	1 lab	60813c982a
9:123928390 CNTRL C>G	9	123928390	123928390	C	G	CNTRL	c.5587C>G	NM_007018.6	NP_008949.4:p.(Arg1863Gly)	NC_000009.11:g.123928390C>G	(Likely) benign	1 lab	6081526d14
6:131931374 MED23 A>G	6	131931374	131931374	A	G	MED23	c.889T>C	NM_004830.4	NP_004821.2:p.(Cys297Arg)	NC_000006.11:g.131931374A>G	VUS	1 lab	6086159d21
2:51254673 NRXN1 G>C	2	51254673	51254673	G	C	NRXN1	c.739C>G	NM_001330078.2	NP_001317007.1:p.(Arg247Gly)	NC_000002.11:g.51254673G>C	VUS	1 lab	60867ffd0e
11:46918491 LRP4 C>T	11	46918491	46918491	C	T	LRP4	c.851G>A	NM_002334.4	NP_002325.2:p.(Arg284His)	NC_000011.9:g.46918491C>T	(Likely) benign	1 lab	60887128a8
10:78669753 KCNMA1 C>T	10	78669753	78669753	C	T	KCNMA1	c.3118G>A	NM_001161352.2	NP_001154824.1:p.(Val1040Ile)	NC_000010.10:g.78669753C>T	VUS	1 lab	608c0ef735
22:26348297 MYO18B G>A	22	26348297	26348297	G	A	MYO18B	c.5878G>A	NM_032608.7	NP_115997.5:p.(Val1960Met)	NC_000022.10:g.26348297G>A	VUS	1 lab	608c60b672
12:99548098 ANKS1B A>C	12	99548098	99548098	A	C	ANKS1B	c.2495T>G	NM_001352186.2	NP_001339115.1:p.(Met832Arg)	NC_000012.11:g.99548098A>C	(Likely) benign	1 lab	608f2a6ce6
3:49568875 DAG1 C>T	3	49568875	49568875	C	T	DAG1	c.931C>T	NM_004393.6	NP_004384.5:p.(Arg311Trp)	NC_000003.11:g.49568875C>T	(Likely) benign	1 lab	608ff24d56
20:33509238 ACSS2 C>G	20	33509238	33509238	C	G	ACSS2	c.1383C>G	NM_018677.4	NP_061147.1:p.(Ile461Met)	NC_000020.10:g.33509238C>G	VUS	1 lab	608fff8234
17:10302182 MYH8 T>C	17	10302182	10302182	T	C	MYH8	c.3884A>G	NM_002472.3	NP_002463.2:p.(Asp1295Gly)	NC_000017.10:g.10302182T>C	(Likely) benign	1 lab	6091ee0e40
9:139391293 NOTCH1 C>T	9	139391293	139391293	C	T	NOTCH1	c.6898G>A	NM_017617.5	NP_060087.3:p.(Gly2300Arg)	NC_000009.11:g.139391293C>T	(Likely) benign	1 lab	60924fd625
19:50906837 POLD1 C>T	19	50906837	50906837	C	T	POLD1	c.1225C>T	NM_002691.4	NP_002682.2:p.(Arg409Trp)	NC_000019.9:g.50906837C>T	VUS	1 lab	6094316a84
X:129289199 AIFM1 T>A	X	129289199	129289199	T	A	AIFM1	c.249+1236A>T	NM_004208.4	NP_004199.1:p.?	NC_000023.10:g.129289199T>A	VUS	1 lab	609636518b
1:181701699 CACNA1E T>G	1	181701699	181701699	T	G	CACNA1E	c.2477T>G	NM_001205293.3	NP_001192222.1:p.(Leu826Arg)	NC_000001.10:g.181701699T>G	(Likely) benign	1 lab	6097189ad4
17:7404605 POLR2A T>C	17	7404605	7404605	T	C	POLR2A	c.2051-3T>C	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7404605T>C	(Likely) benign	1 lab	6097704ca4
7:73020440 MLXIPL G>A	7	73020440	73020440	G	A	MLXIPL	c.620C>T	NM_032951.3	NP_116569.1:p.(Ala207Val)	NC_000007.13:g.73020440G>A	(Likely) benign	1 lab	6097aeeb8d
6:132938501 TAAR2 T>A	6	132938501	132938501	T	A	TAAR2	c.844A>T	NM_001033080.1	NP_001028252.1:p.(Ile282Phe)	NC_000006.11:g.132938501T>A	VUS	1 lab	6097c75d3d
19:13319617 CACNA1A A>C	19	13319617	13319617	A	C	CACNA1A	c.6733T>G	NM_001127222.2	NP_001120694.1:p.(Trp2245Gly)	NC_000019.9:g.13319617A>C	VUS	1 lab	609a169654
X:100105331 NOX1 C>CTTGT	X	100105331	100105336	C	CTTGT	NOX1	c.938_941dup	NM_007052.5	NP_008983.2:p.(Arg315GlnfsTer15)	NC_000023.10:g.100105333_100105336dup	(Likely) benign	1 lab	609acbe356
4:106158523 TET2 T>A	4	106158523	106158523	T	A	TET2	c.3409+15T>A	NM_001127208.2	NP_001120680.1:p.?	NC_000004.11:g.106158523T>A	(Likely) benign	1 lab	225efc676c
X:48542342 WAS C>T	X	48542342	48542342	C	T	WAS	c.100C>T	NM_000377.2	NP_000368.1:p.(Arg34Ter)	NC_000023.10:g.48542342C>T	(Likely) pathogenic	1 lab	2265f91fe9
10:27444344 MASTL T>G	10	27444344	27444344	T	G	MASTL	c.-12T>G	NM_001172303.3	NP_001165774.1:p.?	NC_000010.10:g.27444344T>G	(Likely) benign	1 lab	214f610720
8:117866571 RAD21 C>G	8	117866571	117866571	C	G	RAD21	c.1074G>C	NM_006265.3	NP_006256.1:p.(Lys358Asn)	NC_000008.10:g.117866571C>G	VUS	1 lab	609b36fdc7
X:48919607 CCDC120 G>A	X	48919607	48919607	G	A	CCDC120	c.35G>A	NM_001163321.4	NP_001156793.2:p.(Gly12Asp)	NC_000023.10:g.48919607G>A	(Likely) benign	1 lab	609b55d558
1:243675644 AKT3 T>C	1	243675644	243675644	T	C	AKT3	c.1336A>G	NM_005465.7	NP_005456.1:p.(Ile446Val)	NC_000001.10:g.243675644T>C	(Likely) benign	1 lab	609c976199
17:37374165 STAC2 A>G	17	37374165	37374165	A	G	STAC2	c.352T>C	NM_198993.5	NP_945344.1:p.(Phe118Leu)	NC_000017.10:g.37374165A>G	VUS	1 lab	609db1c7ae
19:7174672 INSR C>T	19	7174672	7174672	C	T	INSR	c.1045G>A	NM_000208.4	NP_000199.2:p.(Asp349Asn)	NC_000019.9:g.7174672C>T	VUS	1 lab	609dbafc11
17:40370791 STAT5B C>T	17	40370791	40370791	C	T	STAT5B	c.939G>A	NM_012448.4	NP_036580.2:p.(Leu313=)	NC_000017.10:g.40370791C>T	(Likely) benign	1 lab	609de39054
1:34166245 CSMD2 C>G	1	34166245	34166245	C	G	CSMD2	c.3605G>C	NM_001281956.2	NP_001268885.1:p.(Arg1202Pro)	NC_000001.10:g.34166245C>G	VUS	1 lab	609e0ae977
5:172659720 NKX2-5 G>C	5	172659720	172659720	G	C	NKX2-5	c.827C>G	NM_004387.4	NP_004378.1:p.(Ala276Gly)	NC_000005.9:g.172659720G>C	VUS	1 lab	609e5ad67c
19:48821738 ODAD1 C>G	19	48821738	48821738	C	G	ODAD1	c.266G>C	NM_001364171.2	NP_001351100.1:p.(Arg89Pro)	NC_000019.9:g.48821738C>G	(Likely) benign	1 lab	609fa7facf
7:21805215 DNAH11 G>A	7	21805215	21805215	G	A	DNAH11	c.9102+8G>A	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21805215G>A	(Likely) benign	1 lab	60a175c6d6
13:32912751 BRCA2 A>T	13	32912751	32912751	A	T	BRCA2	c.4259A>T	NM_000059.4	NP_000050.3:p.(Asp1420Val)	NC_000013.10:g.32912751A>T	VUS	1 lab	60a17d233b
5:176332378 UIMC1 T>G	5	176332378	176332378	T	G	UIMC1	c.2065A>C	NM_001199298.2	NP_001186227.1:p.(Thr689Pro)	NC_000005.9:g.176332378T>G	VUS	1 lab	60a185a4b8
3:184298911 EPHB3 G>A	3	184298911	184298911	G	A	EPHB3	c.2690G>A	NM_004443.4	NP_004434.2:p.(Arg897His)	NC_000003.11:g.184298911G>A	VUS	1 lab	60a1e08014
2:165948982 SCN3A A>G	2	165948982	165948982	A	G	SCN3A	c.4589T>C	NM_006922.4	NP_008853.3:p.(Ile1530Thr)	NC_000002.11:g.165948982A>G	VUS	1 lab	60a2fce963
12:57535286 LRP1 A>C	12	57535286	57535286	A	C	LRP1	c.320A>C	NM_002332.3	NP_002323.2:p.(His107Pro)	NC_000012.11:g.57535286A>C	VUS	1 lab	60a3a5da39
19:17988609 SLC5A5 A>G	19	17988609	17988609	A	G	SLC5A5	c.776A>G	NM_000453.3	NP_000444.1:p.(Tyr259Cys)	NC_000019.9:g.17988609A>G	VUS	1 lab	60a4226295
10:115341762 HABP2 G>A	10	115341762	115341762	G	A	HABP2	c.966G>A	NM_004132.5	NP_004123.1:p.(Ala322=)	NC_000010.10:g.115341762G>A	VUS	1 lab	60a6b62a94
6:31557891 NCR3 A>C	6	31557891	31557891	A	C	NCR3	c.56T>G	NM_147130.3	NP_667341.1:p.(Leu19Arg)	NC_000006.11:g.31557891A>C	(Likely) benign	1 lab	60a89c9e5c
5:34908944 RAD1 T>A	5	34908944	34908944	T	A	RAD1	c.775A>T	NM_002853.4	NP_002844.1:p.(Asn259Tyr)	NC_000005.9:g.34908944T>A	VUS	1 lab	60a9bcf886
17:61787846 STRADA C>T	17	61787846	61787846	C	T	STRADA	c.581+5G>A	NM_001003787.4	NP_001003787.1:p.?	NC_000017.10:g.61787846C>T	(Likely) benign	1 lab	60aa7f3ba7
22:42607122 TCF20 C>T	22	42607122	42607122	C	T	TCF20	c.4190G>A	NM_001378418.1	NP_001365347.1:p.(Ser1397Asn)	NC_000022.10:g.42607122C>T	(Likely) benign	1 lab	60aa94d218
13:23911852 SACS G>T	13	23911852	23911852	G	T	SACS	c.6163C>A	NM_014363.6	NP_055178.3:p.(Gln2055Lys)	NC_000013.10:g.23911852G>T	(Likely) benign	1 lab	60aabd56f7
15:89383371 ACAN G>A	15	89383371	89383371	G	A	ACAN	c.583G>A	NM_001369268.1	NP_001356197.1:p.(Gly195Ser)	NC_000015.9:g.89383371G>A	(Likely) benign	1 lab	60abaa9ca5
1:155341137 ASH1L A>G	1	155341137	155341137	A	G	ASH1L	c.6333-363T>C	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155341137A>G	(Likely) benign	1 lab	60ad26a079
19:50098254 PRR12 C>T	19	50098254	50098254	C	T	PRR12	c.662C>T	NM_020719.3	NP_065770.1:p.(Pro221Leu)	NC_000019.9:g.50098254C>T	VUS	1 lab	60af41e489
16:72057073 DHODH G>A	16	72057073	72057073	G	A	DHODH	c.829G>A	NM_001361.5	NP_001352.2:p.(Asp277Asn)	NC_000016.9:g.72057073G>A	VUS	1 lab	60b23dbfef
7:1489931 MICALL2 G>A	7	1489931	1489931	G	A	MICALL2	c.144-7C>T	NM_182924.4	NP_891554.1:p.?	NC_000007.13:g.1489931G>A	(Likely) benign	1 lab	60b2b182ef
18:72245458 CNDP1 G>A	18	72245458	72245458	G	A	CNDP1	c.1063G>A	NM_032649.6	NP_116038.4:p.(Ala355Thr)	NC_000018.9:g.72245458G>A	VUS	1 lab	60b44f635e
19:54652151 CNOT3 C>A	19	54652151	54652151	C	A	CNOT3	c.1163C>A	NM_014516.4	NP_055331.1:p.(Pro388His)	NC_000019.9:g.54652151C>A	(Likely) benign	1 lab	60b590d078
5:174938445 SFXN1 TC>T	5	174938445	174938446	TC	T	SFXN1	c.435-8del	NM_022754.7	NP_073591.2:p.?	NC_000005.9:g.174938446del	(Likely) benign	1 lab	60bb0c8e7d
13:114537562 GAS6 C>G	13	114537562	114537562	C	G	GAS6	c.796G>C	NM_000820.4	NP_000811.1:p.(Gly266Arg)	NC_000013.10:g.114537562C>G	(Likely) benign	1 lab	60bbf236ed
15:91492895 UNC45A C>T	15	91492895	91492895	C	T	UNC45A	c.2018C>T	NM_018671.5	NP_061141.2:p.(Ala673Val)	NC_000015.9:g.91492895C>T	VUS	1 lab	60bcfb5a49
15:89401912 ACAN A>G	15	89401912	89401912	A	G	ACAN	c.6096A>G	NM_001369268.1	NP_001356197.1:p.(Pro2032=)	NC_000015.9:g.89401912A>G	VUS	1 lab	60bd87573a
15:89398652 ACAN G>A	15	89398652	89398652	G	A	ACAN	c.2836G>A	NM_001369268.1	NP_001356197.1:p.(Gly946Ser)	NC_000015.9:g.89398652G>A	(Likely) benign	1 lab	60be891c72
2:27424211 SLC5A6 C>A	2	27424211	27424211	C	A	SLC5A6	c.1648+7G>T	NM_021095.4	NP_066918.2:p.?	NC_000002.11:g.27424211C>A	(Likely) benign	1 lab	60bf31ec2a
6:42975254 PPP2R5D C>T	6	42975254	42975254	C	T	PPP2R5D	c.726+10C>T	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42975254C>T	(Likely) benign	1 lab	60bfe6820f
1:19208194 ALDH4A1 G>A	1	19208194	19208194	G	A	ALDH4A1	c.866C>T	NM_003748.4	NP_003739.2:p.(Pro289Leu)	NC_000001.10:g.19208194G>A	VUS	1 lab	60c088a0e8
5:178408731 GRM6 C>T	5	178408731	178408731	C	T	GRM6	c.2561G>A	NM_000843.4	NP_000834.2:p.(Arg854Gln)	NC_000005.9:g.178408731C>T	VUS	1 lab	60c16d9364
9:37744688 FRMPD1 CTGCAGGACA>C	9	37744688	37744703	CTGCAGGACA	C	FRMPD1	c.2666_2674del	NM_014907.3	NP_055722.2:p.(Asp889_Gln891del)	NC_000009.11:g.37744695_37744703del	VUS	1 lab	60c36fe55f
14:99969165 CCNK G>C	14	99969165	99969165	G	C	CCNK	c.855G>C	NM_001099402.2	NP_001092872.1:p.(Val285=)	NC_000014.8:g.99969165G>C	(Likely) benign	1 lab	60c711aa7e
3:57310600 ASB14 C>T	3	57310600	57310600	C	T	ASB14	c.1742G>A	NM_001142733.3	NP_001136205.2:p.(Gly581Glu)	NC_000003.11:g.57310600C>T	VUS	1 lab	60c83b910e
X:78618948 ITM2A G>A	X	78618948	78618948	G	A	ITM2A	c.215C>T	NM_004867.5	NP_004858.1:p.(Ala72Val)	NC_000023.10:g.78618948G>A	(Likely) benign	1 lab	60c9c8b989
16:30734496 SRCAP A>G	16	30734496	30734496	A	G	SRCAP	c.4105A>G	NM_006662.3	NP_006653.2:p.(Thr1369Ala)	NC_000016.9:g.30734496A>G	(Likely) benign	1 lab	60ca226351
6:17781508 KIF13A T>G	6	17781508	17781508	T	G	KIF13A	c.3569A>C	NM_022113.6	NP_071396.4:p.(Gln1190Pro)	NC_000006.11:g.17781508T>G	(Likely) benign	1 lab	60cb8e25c9
15:99486165 IGF1R G>A	15	99486165	99486165	G	A	IGF1R	c.3471G>A	NM_000875.5	NP_000866.1:p.(Thr1157=)	NC_000015.9:g.99486165G>A	(Likely) benign	1 lab	60d04f0f1d
17:80763847 TBCD C>T	17	80763847	80763847	C	T	TBCD	c.1047C>T	NM_005993.5	NP_005984.3:p.(Asp349=)	NC_000017.10:g.80763847C>T	(Likely) benign	1 lab	60d139f3eb
1:228345761 GJC2 G>T	1	228345761	228345761	G	T	GJC2	c.302G>T	NM_020435.4	NP_065168.2:p.(Arg101Leu)	NC_000001.10:g.228345761G>T	VUS	1 lab	60d2648c9d
19:10666010 KRI1 C>T	19	10666010	10666010	C	T	KRI1	c.1633G>A	NM_023008.5	NP_075384.4:p.(Asp545Asn)	NC_000019.9:g.10666010C>T	VUS	1 lab	60d279dbd6
1:22154365 HSPG2 C>T	1	22154365	22154365	C	T	HSPG2	c.12580G>A	NM_005529.7	NP_005520.4:p.(Gly4194Arg)	NC_000001.10:g.22154365C>T	VUS	1 lab	60d2efebd1
6:117237424 RFX6 G>A	6	117237424	117237424	G	A	RFX6	c.919G>A	NM_173560.4	NP_775831.2:p.(Glu307Lys)	NC_000006.11:g.117237424G>A	VUS	1 lab	60d4dac167
1:167095910 STYXL2 G>T	1	167095910	167095910	G	T	STYXL2	c.1542G>T	NM_001080426.3	NP_001073895.1:p.(Arg514Ser)	NC_000001.10:g.167095910G>T	(Likely) benign	1 lab	60d5719c88
17:79479336 ACTG1 G>A	17	79479336	79479336	G	A	ACTG1	c.45C>T	NM_001614.5	NP_001605.1:p.(Gly15=)	NC_000017.10:g.79479336G>A	(Likely) benign	1 lab	60d86f7b3d
19:15290934 NOTCH3 G>A	19	15290934	15290934	G	A	NOTCH3	c.3276C>T	NM_000435.3	NP_000426.2:p.(Pro1092=)	NC_000019.9:g.15290934G>A	(Likely) benign	1 lab	60d9bba1f7
22:38476957 SLC16A8 A>G	22	38476957	38476957	A	G	SLC16A8	c.1088T>C	NM_013356.3	NP_037488.2:p.(Leu363Pro)	NC_000022.10:g.38476957A>G	VUS	1 lab	60d9bf05f4
10:67726441 CTNNA3 G>A	10	67726441	67726441	G	A	CTNNA3	c.2329C>T	NM_013266.4	NP_037398.2:p.(His777Tyr)	NC_000010.10:g.67726441G>A	VUS	1 lab	60db5254ce
X:54521798 FGD1 G>C	X	54521798	54521798	G	C	FGD1	c.68C>G	NM_004463.3	NP_004454.2:p.(Pro23Arg)	NC_000023.10:g.54521798G>C	VUS	1 lab	60dc63d62f
1:220387287 RAB3GAP2 GT>G	1	220387287	220387293	GT	G	RAB3GAP2	c.214del	NM_012414.4	NP_036546.2:p.(Thr72LeufsTer19)	NC_000001.10:g.220387293del	VUS	1 lab	60dd4071a1
9:139902962 ABCA2 C>T	9	139902962	139902962	C	T	ABCA2	c.7181G>A	NM_001606.5	NP_001597.2:p.(Arg2394Gln)	NC_000009.11:g.139902962C>T	VUS	1 lab	60de4a5704
3:143550859 SLC9A9 ACCTTTT>A	3	143550859	143550866	ACCTTTT	A	SLC9A9	c.374_378+1del	NM_173653.4	NP_775924.1:p.?	NC_000003.11:g.143550861_143550866del	VUS	1 lab	60de6d2c20
1:208219375 PLXNA2 G>A	1	208219375	208219375	G	A	PLXNA2	c.3343C>T	NM_025179.4	NP_079455.3:p.(Arg1115Cys)	NC_000001.10:g.208219375G>A	VUS	1 lab	60e2cf16cb
14:101198518 DLK1 C>T	14	101198518	101198518	C	T	DLK1	c.402C>T	NM_003836.7	NP_003827.4:p.(Asn134=)	NC_000014.8:g.101198518C>T	VUS	1 lab	60e3b27301
22:26399240 MYO18B G>A	22	26399240	26399240	G	A	MYO18B	c.6297G>A	NM_032608.7	NP_115997.5:p.(Thr2099=)	NC_000022.10:g.26399240G>A	(Likely) benign	1 lab	60e40dfe27
16:65006842 CDH11 G>T	16	65006842	65006842	G	T	CDH11	c.1355C>A	NM_001797.4	NP_001788.2:p.(Ala452Asp)	NC_000016.9:g.65006842G>T	VUS	1 lab	60e424a0b7
6:83754352 UBE3D G>A	6	83754352	83754352	G	A	UBE3D	c.392C>T	NM_198920.3	NP_944602.1:p.(Pro131Leu)	NC_000006.11:g.83754352G>A	VUS	1 lab	6128fcbe08
16:89789766 ZNF276 A>G	16	89789766	89789766	A	G	ZNF276	c.655A>G	NM_001113525.2	NP_001106997.1:p.(Thr219Ala)	NC_000016.9:g.89789766A>G	(Likely) benign	1 lab	60e777e984
6:43581512 POLH G>A	6	43581512	43581512	G	A	POLH	c.1360G>A	NM_006502.3	NP_006493.1:p.(Val454Met)	NC_000006.11:g.43581512G>A	(Likely) benign	1 lab	60e8ab58c1
16:1840801 IGFALS A>G	16	1840801	1840801	A	G	IGFALS	c.1618T>C	NM_004970.3	NP_004961.1:p.(Cys540Arg)	NC_000016.9:g.1840801A>G	(Likely) pathogenic	1 lab	60e9f07dbf
14:37145508 PAX9 C>T	14	37145508	37145508	C	T	PAX9	c.877C>T	NM_001372076.1	NP_001359005.1:p.(Pro293Ser)	NC_000014.8:g.37145508C>T	(Likely) benign	1 lab	60ecd47d02
11:118379861 KMT2A G>C	11	118379861	118379861	G	C	KMT2A	c.10846G>C	NM_001197104.2	NP_001184033.1:p.(Val3616Leu)	NC_000011.9:g.118379861G>C	(Likely) benign	1 lab	60ed868e2c
9:139287053 SNAPC4 G>A	9	139287053	139287053	G	A	SNAPC4	c.738-7C>T	NM_003086.4	NP_003077.2:p.?	NC_000009.11:g.139287053G>A	(Likely) benign	1 lab	60f052e9d6
14:20859870 TEP1 G>A	14	20859870	20859870	G	A	TEP1	c.1985C>T	NM_007110.5	NP_009041.2:p.(Ala662Val)	NC_000014.8:g.20859870G>A	VUS	1 lab	60f0b9ddba
12:66641522 IRAK3 A>C	12	66641522	66641522	A	C	IRAK3	c.1362A>C	NM_007199.3	NP_009130.2:p.(Glu454Asp)	NC_000012.11:g.66641522A>C	(Likely) benign	1 lab	60f0faf281
7:151845156 KMT2C C>T	7	151845156	151845156	C	T	KMT2C	c.13856G>A	NM_170606.3	NP_733751.2:p.(Gly4619Asp)	NC_000007.13:g.151845156C>T	(Likely) benign	1 lab	60f13379b9
1:1277183 DVL1 C>T	1	1277183	1277183	C	T	DVL1	c.469G>A	NM_001330311.2	NP_001317240.1:p.(Ala157Thr)	NC_000001.10:g.1277183C>T	(Likely) benign	1 lab	60f179024f
6:86281874 SNX14 A>G	6	86281874	86281874	A	G	SNX14	c.398T>C	NM_153816.6	NP_722523.1:p.(Val133Ala)	NC_000006.11:g.86281874A>G	VUS	1 lab	60f26d5cbe
3:195508441 MUC4 GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA>G	3	195508441	195508546	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G	MUC4	c.9914_10009del	NM_018406.7	NP_060876.5:p.(Val3305_Ser3336del)	NC_000003.11:g.195508451_195508546del	(Likely) benign	1 lab	60f303d7ca
14:92460227 TRIP11 C>T	14	92460227	92460227	C	T	TRIP11	c.5086G>A	NM_004239.4	NP_004230.2:p.(Glu1696Lys)	NC_000014.8:g.92460227C>T	(Likely) benign	1 lab	60f311ccbc
8:96275975 CFAP418 ATCT>A	8	96275975	96275982	ATCT	A	CFAP418	c.180_182del	NM_177965.4	NP_808880.1:p.(Glu60del)	NC_000008.10:g.96275980_96275982del	VUS	1 lab	60f31bb9f7
8:141572738 AGO2 G>A	8	141572738	141572738	G	A	AGO2	c.337-5C>T	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141572738G>A	VUS	1 lab	60f5c49466
16:88872918 CDT1 G>A	16	88872918	88872918	G	A	CDT1	c.958G>A	NM_030928.4	NP_112190.2:p.(Ala320Thr)	NC_000016.9:g.88872918G>A	(Likely) benign	1 lab	60f6c27f18
4:187524892 FAT1 C>T	4	187524892	187524892	C	T	FAT1	c.10788G>A	NM_005245.4	NP_005236.2:p.(Gly3596=)	NC_000004.11:g.187524892C>T	(Likely) benign	1 lab	226baa053c
19:18279530 PIK3R2 C>T	19	18279530	18279530	C	T	PIK3R2	c.1809-6C>T	NM_005027.4	NP_005018.2:p.?	NC_000019.9:g.18279530C>T	(Likely) benign	1 lab	60fa3da31a
4:152043349 SH3D19 A>G	4	152043349	152043349	A	G	SH3D19	c.3038T>C	NM_001378122.1	NP_001365051.1:p.(Ile1013Thr)	NC_000004.11:g.152043349A>G	VUS	1 lab	60fa7cc662
3:121976050 CASR C>T	3	121976050	121976050	C	T	CASR	c.308C>T	NM_000388.4	NP_000379.3:p.(Thr103Ile)	NC_000003.11:g.121976050C>T	VUS	1 lab	60faba4203
18:31319286 ASXL3 T>C	18	31319286	31319286	T	C	ASXL3	c.1918T>C	NM_030632.3	NP_085135.1:p.(Cys640Arg)	NC_000018.9:g.31319286T>C	(Likely) benign	1 lab	60fb38162c
5:94838669 SKIC3 C>A	5	94838669	94838669	C	A	SKIC3	c.3256G>T	NM_014639.4	NP_055454.1:p.(Asp1086Tyr)	NC_000005.9:g.94838669C>A	VUS	1 lab	60fd4f7363
5:176562853 NSD1 AAGC>A	5	176562853	176562859	AAGC	A	NSD1	c.753_755del	NM_022455.5	NP_071900.2:p.(Ala252del)	NC_000005.9:g.176562857_176562859del	VUS	1 lab	60fee020c8
4:6303541 WFS1 C>T	4	6303541	6303541	C	T	WFS1	c.2019C>T	NM_006005.3	NP_005996.2:p.(Cys673=)	NC_000004.11:g.6303541C>T	(Likely) benign	1 lab	61000d5937
1:26142025 SELENON G>A	1	26142025	26142025	G	A	SELENON	c.1501-14G>A	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26142025G>A	VUS	1 lab	6100857ea2
12:49425664 KMT2D T>C	12	49425664	49425664	T	C	KMT2D	c.12824A>G	NM_003482.4	NP_003473.3:p.(Gln4275Arg)	NC_000012.11:g.49425664T>C	VUS	1 lab	6100c5345e
11:73834139 C2CD3 G>A	11	73834139	73834139	G	A	C2CD3	c.1259C>T	NM_001286577.2	NP_001273506.1:p.(Ser420Phe)	NC_000011.9:g.73834139G>A	VUS	1 lab	6101474198
19:49139228 DBP C>A	19	49139228	49139228	C	A	DBP	c.159G>T	NM_001352.5	NP_001343.2:p.(Glu53Asp)	NC_000019.9:g.49139228C>A	VUS	1 lab	6101b0abd0
7:148515109 EZH2 C>T	7	148515109	148515109	C	T	EZH2	c.1100G>A	NM_004456.5	NP_004447.2:p.(Ser367Asn)	NC_000007.13:g.148515109C>T	VUS	1 lab	6102447aef
20:33584162 MYH7B C>T	20	33584162	33584162	C	T	MYH7B	c.2957C>T	NM_020884.7	NP_065935.4:p.(Thr986Met)	NC_000020.10:g.33584162C>T	VUS	1 lab	610273e220
7:128850838 SMO G>A	7	128850838	128850838	G	A	SMO	c.1685G>A	NM_005631.5	NP_005622.1:p.(Arg562Gln)	NC_000007.13:g.128850838G>A	(Likely) pathogenic	1 lab	6103c9442e
11:111899635 DLAT A>G	11	111899635	111899635	A	G	DLAT	c.626A>G	NM_001931.5	NP_001922.2:p.(Gln209Arg)	NC_000011.9:g.111899635A>G	(Likely) benign	1 lab	610632f528
X:34148855 FAM47A G>C	X	34148855	34148855	G	C	FAM47A	c.1541C>G	NM_203408.4	NP_981953.2:p.(Thr514Arg)	NC_000023.10:g.34148855G>C	VUS	1 lab	6106638df3
18:21123514 NPC1 C>T	18	21123514	21123514	C	T	NPC1	c.2150G>A	NM_000271.5	NP_000262.2:p.(Gly717Glu)	NC_000018.9:g.21123514C>T	VUS	1 lab	215c513143
11:66192184 NPAS4 G>A	11	66192184	66192184	G	A	NPAS4	c.1823G>A	NM_178864.4	NP_849195.2:p.(Gly608Asp)	NC_000011.9:g.66192184G>A	VUS	1 lab	610a74d69e
5:132223529 AFF4 T>C	5	132223529	132223529	T	C	AFF4	c.2933+9A>G	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132223529T>C	(Likely) benign	1 lab	610a795efe
12:992242 WNK1 A>G	12	992242	992242	A	G	WNK1	c.4269+17A>G	NM_001184985.1	NP_001171914.1:p.?	NC_000012.11:g.992242A>G	(Likely) benign	1 lab	226c93c8c2
16:81295827 BCO1 C>T	16	81295827	81295827	C	T	BCO1	c.410C>T	NM_017429.3	NP_059125.2:p.(Ala137Val)	NC_000016.9:g.81295827C>T	(Likely) benign	1 lab	610cb733d2
7:44189586 GCK G>A	7	44189586	44189586	G	A	GCK	c.561C>T	NM_000162.5	NP_000153.1:p.(Asp187=)	NC_000007.13:g.44189586G>A	(Likely) benign	1 lab	610d98fef4
15:99478613 IGF1R C>T	15	99478613	99478613	C	T	IGF1R	c.3255C>T	NM_000875.5	NP_000866.1:p.(Gly1085=)	NC_000015.9:g.99478613C>T	(Likely) benign	1 lab	610d9dc865
18:57364553 CCBE1 G>A	18	57364553	57364553	G	A	CCBE1	c.22C>T	NM_133459.4	NP_597716.1:p.(Arg8Trp)	NC_000018.9:g.57364553G>A	VUS	1 lab	610db69eaa
19:40396277 FCGBP C>T	19	40396277	40396277	C	T	FCGBP	c.7120G>A	NM_003890.3	NP_003881.2:p.(Asp2374Asn)	NC_000019.9:g.40396277C>T	VUS	1 lab	610dd39224
22:19906391 TXNRD2 C>A	22	19906391	19906391	C	A	TXNRD2	c.366G>T	NM_006440.5	NP_006431.2:p.(Pro122=)	NC_000022.10:g.19906391C>A	(Likely) benign	1 lab	2166f5c071
9:135271820 TTF1 C>T	9	135271820	135271820	C	T	TTF1	c.1856G>A	NM_007344.4	NP_031370.2:p.(Arg619Lys)	NC_000009.11:g.135271820C>T	VUS	1 lab	610faf8888
10:102240844 WNT8B A>G	10	102240844	102240844	A	G	WNT8B	c.331A>G	NM_003393.4	NP_003384.2:p.(Asn111Asp)	NC_000010.10:g.102240844A>G	VUS	1 lab	610fe27348
7:42068103 GLI3 C>T	7	42068103	42068103	C	T	GLI3	c.1029-2092G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42068103C>T	VUS	1 lab	611088211c
12:12022390 ETV6 G>A	12	12022390	12022390	G	A	ETV6	c.496G>A	NM_001987.5	NP_001978.1:p.(Val166Met)	NC_000012.11:g.12022390G>A	(Likely) benign	1 lab	611291f748
20:43047083 HNF4A C>T	20	43047083	43047083	C	T	HNF4A	c.667C>T	NM_000457.5	NP_000448.3:p.(His223Tyr)	NC_000020.10:g.43047083C>T	(Likely) pathogenic	1 lab	61136f1067
11:108163358 ATM CAT>C	11	108163358	108163360	CAT	C	ATM	c.4450_4451del	NM_000051.4	NP_000042.3:p.(Met1484GlyfsTer6)	NC_000011.9:g.108163359_108163360del	(Likely) pathogenic	1 lab	6114de56e3
17:15983784 NCOR1 C>T	17	15983784	15983784	C	T	NCOR1	c.3338G>A	NM_006311.4	NP_006302.2:p.(Arg1113Gln)	NC_000017.10:g.15983784C>T	(Likely) benign	1 lab	61162c8ebb
15:40949546 KNL1 T>C	15	40949546	40949546	T	C	KNL1	c.6595-7T>C	NM_144508.5	NP_653091.3:p.?	NC_000015.9:g.40949546T>C	(Likely) pathogenic	1 lab	6116728544
1:150040702 VPS45 A>G	1	150040702	150040702	A	G	VPS45	c.109A>G	NM_007259.4	NP_009190.2:p.(Met37Val)	NC_000001.10:g.150040702A>G	(Likely) benign	1 lab	22703f1f06
1:120254545 PHGDH G>C	1	120254545	120254545	G	C	PHGDH				NC_000001.10:g.120254545G>C	(Likely) benign	1 lab	2271be1e04
1:204135400 REN G>C	1	204135400	204135400	G	C	REN	c.22C>G	NM_000537.4	NP_000528.1:p.(Pro8Ala)	NC_000001.10:g.204135400G>C	(Likely) benign	1 lab	2271e0a58a
6:90121644 RRAGD ATCC>A	6	90121644	90121665	ATCC	A	RRAGD	c.66_68del	NM_021244.5	NP_067067.1:p.(Glu22del)	NC_000006.11:g.90121663_90121665del	VUS	1 lab	611af0f781
X:8434324 VCX3B T>C	X	8434324	8434324	T	C	VCX3B	c.641T>C	NM_001001888.4	NP_001001888.3:p.(Leu214Pro)	NC_000023.10:g.8434324T>C	(Likely) benign	1 lab	611b296a14
9:6587181 GLDC C>A	9	6587181	6587181	C	A	GLDC	c.1810G>T	NM_000170.3	NP_000161.2:p.(Glu604Ter)	NC_000009.11:g.6587181C>A	(Likely) pathogenic	1 lab	611b81ae60
3:123167190 ADCY5 C>CGCT	3	123167190	123167204	C	CGCT	ADCY5	c.200_202dup	NM_183357.3	NP_899200.1:p.(Gln67dup)	NC_000003.11:g.123167202_123167204dup	(Likely) benign	1 lab	611d5b8ada
19:39406392 SARS2 G>A	19	39406392	39406392	G	A	SARS2	c.1414-3C>T	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39406392G>A	VUS	1 lab	611d5f9692
20:31387041 DNMT3B A>T	20	31387041	31387041	A	T	DNMT3B	c.1675-9A>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31387041A>T	(Likely) benign	1 lab	611df369dd
19:13470554 CACNA1A G>A	19	13470554	13470554	G	A	CACNA1A	c.844C>T	NM_001127222.2	NP_001120694.1:p.(Pro282Ser)	NC_000019.9:g.13470554G>A	VUS	1 lab	611e0b5b16
9:94118163 AUH A>G	9	94118163	94118163	A	G	AUH	c.418+2T>C	NM_001698.3	NP_001689.1:p.?	NC_000009.11:g.94118163A>G	(Likely) pathogenic	1 lab	611f635870
7:102944493 PMPCB T>A	7	102944493	102944493	T	A	PMPCB	c.656+6T>A	NM_004279.3	NP_004270.2:p.?	NC_000007.13:g.102944493T>A	VUS	1 lab	61355de765
19:14273780 ADGRL1 G>C	19	14273780	14273780	G	C	ADGRL1	c.833C>G	NM_014921.5	NP_055736.2:p.(Thr278Ser)	NC_000019.9:g.14273780G>C	(Likely) benign	1 lab	612276dbf0
6:152673361 SYNE1 A>T	6	152673361	152673361	A	T	SYNE1	c.11381T>A	NM_182961.4	NP_892006.3:p.(Met3794Lys)	NC_000006.11:g.152673361A>T	(Likely) benign	1 lab	61244f6013
16:4744960 NUDT16L1 T>C	16	4744960	4744960	T	C	NUDT16L1	c.416T>C	NM_032349.4	NP_115725.1:p.(Val139Ala)	NC_000016.9:g.4744960T>C	VUS	1 lab	613713233f
12:112036753 ATXN2 GGCTGCT>G	12	112036753	112036781	GGCTGCT	G	ATXN2	c.80_85del	NM_001372574.1	NP_001359503.1:p.(Gln27_Gln28del)	NC_000012.11:g.112036776_112036781del	(Likely) benign	1 lab	61257b97ae
2:121555013 GLI2 A>AGCG	2	121555013	121555018	A	AGCG	GLI2	c.120_122dup	NM_005270.5	NP_005261.2:p.(Ala44dup)	NC_000002.11:g.121555016_121555018dup	VUS	1 lab	21681a5d46
1:181765936 CACNA1E C>T	1	181765936	181765936	C	T	CACNA1E	c.6341C>T	NM_001205293.3	NP_001192222.1:p.(Pro2114Leu)	NC_000001.10:g.181765936C>T	VUS	1 lab	612d803c0a
2:71781059 DYSF C>G	2	71781059	71781059	C	G	DYSF	c.2107C>G	NM_001130987.2	NP_001124459.1:p.(Leu703Val)	NC_000002.11:g.71781059C>G	(Likely) benign	1 lab	612e52c384
8:144653042 MROH6 C>A	8	144653042	144653042	C	A	MROH6	c.720+5G>T	NM_001100878.2	NP_001094348.1:p.?	NC_000008.10:g.144653042C>A	VUS	1 lab	613116a6ed
X:8433580 VCX3B A>G	X	8433580	8433580	A	G	VCX3B	c.89A>G	NM_001001888.4	NP_001001888.3:p.(Asp30Gly)	NC_000023.10:g.8433580A>G	(Likely) benign	1 lab	6131f627f0
8:61754219 CHD7 C>G	8	61754219	61754219	C	G	CHD7	c.4550C>G	NM_017780.4	NP_060250.2:p.(Ser1517Cys)	NC_000008.10:g.61754219C>G	VUS	1 lab	6133401188
17:78178961 CARD14 C>T	17	78178961	78178961	C	T	CARD14	c.2526C>T	NM_001366385.1	NP_001353314.1:p.(Ser842=)	NC_000017.10:g.78178961C>T	(Likely) benign	1 lab	613367bee7
16:70894066 HYDIN A>G	16	70894066	70894066	A	G	HYDIN	c.12034T>C	NM_001270974.2	NP_001257903.1:p.(Cys4012Arg)	NC_000016.9:g.70894066A>G	VUS	1 lab	61349f489d
12:106898394 POLR3B C>T	12	106898394	106898394	C	T	POLR3B	c.3272+362C>T	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106898394C>T	VUS	1 lab	6134f56cd8
X:9863641 SHROOM2 C>G	X	9863641	9863641	C	G	SHROOM2	c.1693C>G	NM_001649.4	NP_001640.1:p.(Leu565Val)	NC_000023.10:g.9863641C>G	(Likely) benign	1 lab	61350501c3
1:152282104 FLG C>T	1	152282104	152282104	C	T	FLG	c.5258G>A	NM_002016.2	NP_002007.1:p.(Gly1753Asp)	NC_000001.10:g.152282104C>T	(Likely) benign	1 lab	6135a56c36
12:50344644 AQP2 A>G	12	50344644	50344644	A	G	AQP2	c.31A>G	NM_000486.6	NP_000477.1:p.(Arg11Gly)	NC_000012.11:g.50344644A>G	VUS	1 lab	6136217d85
12:132414332 PUS1 G>A	12	132414332	132414332	G	A	PUS1	c.65G>A	NM_025215.6	NP_079491.2:p.(Arg22His)	NC_000012.11:g.132414332G>A	VUS	1 lab	6138076467
2:27672926 IFT172 C>T	2	27672926	27672926	C	T	IFT172	c.3989G>A	NM_015662.3	NP_056477.1:p.(Arg1330His)	NC_000002.11:g.27672926C>T	VUS	1 lab	61384a31d7
X:48931481 PRAF2 G>A	X	48931481	48931481	G	A	PRAF2	c.166C>T	NM_007213.3	NP_009144.1:p.(Leu56Phe)	NC_000023.10:g.48931481G>A	(Likely) benign	1 lab	6138d32f07
11:17436843 ABCC8 C>T	11	17436843	17436843	C	T	ABCC8	c.2291+8G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17436843C>T	(Likely) benign	1 lab	6138f10bb5
8:145619331 CPSF1 C>T	8	145619331	145619331	C	T	CPSF1	c.3856G>A	NM_013291.3	NP_037423.2:p.(Glu1286Lys)	NC_000008.10:g.145619331C>T	VUS	1 lab	613a0a0955
18:73000435 TSHZ1 C>T	18	73000435	73000435	C	T	TSHZ1	c.3073C>T	NM_001308210.2	NP_001295139.1:p.(Pro1025Ser)	NC_000018.9:g.73000435C>T	(Likely) benign	1 lab	613af1ae97
9:109689905 ZNF462 G>A	9	109689905	109689905	G	A	ZNF462	c.3712G>A	NM_021224.6	NP_067047.4:p.(Asp1238Asn)	NC_000009.11:g.109689905G>A	(Likely) benign	1 lab	613d7527b9
X:153880634 CTAG2 C>G	X	153880634	153880634	C	G	CTAG2	c.405-93G>C	NM_172377.5	NP_758965.2:p.?	NC_000023.10:g.153880634C>G	(Likely) benign	1 lab	6140a06fb1
3:46939561 PTH1R C>T	3	46939561	46939561	C	T	PTH1R	c.425-3C>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46939561C>T	(Likely) benign	1 lab	6140bd52db
6:51920392 PKHD1 T>C	6	51920392	51920392	T	C	PKHD1	c.1829A>G	NM_138694.4	NP_619639.3:p.(Tyr610Cys)	NC_000006.11:g.51920392T>C	VUS	1 lab	61411829c9
3:46940898 PTH1R T>G	3	46940898	46940898	T	G	PTH1R	c.940T>G	NM_000316.3	NP_000307.1:p.(Phe314Val)	NC_000003.11:g.46940898T>G	VUS	1 lab	614187acdc
13:35864520 NBEA T>C	13	35864520	35864520	T	C	NBEA	c.5777-6T>C	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.35864520T>C	(Likely) benign	1 lab	614245dd5c
11:17426072 ABCC8 G>A	11	17426072	17426072	G	A	ABCC8	c.3544C>T	NM_000352.6	NP_000343.2:p.(Arg1182Trp)	NC_000011.9:g.17426072G>A	(Likely) pathogenic	1 lab	614315e05d
12:56397472 SUOX T>G	12	56397472	56397472	T	G	SUOX	c.299T>G	NM_001032386.2	NP_001027558.1:p.(Ile100Ser)	NC_000012.11:g.56397472T>G	VUS	1 lab	6144972cee
4:1808870 FGFR3 G>T	4	1808870	1808870	G	T	FGFR3	c.2302G>T	NM_000142.5	NP_000133.1:p.(Glu768Ter)	NC_000004.11:g.1808870G>T	VUS	1 lab	61459f82c3
1:192778269 RGS2 G>A	1	192778269	192778269	G	A	RGS2	c.68G>A	NM_002923.4	NP_002914.1:p.(Gly23Asp)	NC_000001.10:g.192778269G>A	VUS	1 lab	614743b299
X:70349681 MED12 C>T	X	70349681	70349681	C	T	MED12	c.3843C>T	NM_005120.3	NP_005111.2:p.(Tyr1281=)	NC_000023.10:g.70349681C>T	(Likely) benign	1 lab	614a8ebf9a
4:6296872 WFS1 G>A	4	6296872	6296872	G	A	WFS1	c.817G>A	NM_006005.3	NP_005996.2:p.(Glu273Lys)	NC_000004.11:g.6296872G>A	(Likely) benign	1 lab	614be47b6c
19:47880447 DHX34 G>A	19	47880447	47880447	G	A	DHX34	c.2690G>A	NM_014681.6	NP_055496.2:p.(Arg897His)	NC_000019.9:g.47880447G>A	VUS	1 lab	614c0b4187
1:210578029 HHAT G>C	1	210578029	210578029	G	C	HHAT	c.684+6G>C	NM_018194.6	NP_060664.2:p.?	NC_000001.10:g.210578029G>C	(Likely) benign	1 lab	614cfdb3d3
7:299720 FAM20C G>A	7	299720	299720	G	A	FAM20C	c.1529G>A	NM_020223.4	NP_064608.2:p.(Arg510His)	NC_000007.13:g.299720G>A	VUS	1 lab	614fe2d4fd
9:90322029 DAPK1 G>T	9	90322029	90322029	G	T	DAPK1	c.4043G>T	NM_004938.4	NP_004929.2:p.(Gly1348Val)	NC_000009.11:g.90322029G>T	(Likely) benign	1 lab	61504cc238
1:1277184 DVL1 G>A	1	1277184	1277184	G	A	DVL1	c.468C>T	NM_001330311.2	NP_001317240.1:p.(Ala156=)	NC_000001.10:g.1277184G>A	(Likely) benign	1 lab	6151eae9b3
15:86807722 AGBL1 A>C	15	86807722	86807722	A	C	AGBL1	c.1320A>C	NM_001386094.1	NP_001373023.1:p.(Gln440His)	NC_000015.9:g.86807722A>C	(Likely) benign	1 lab	6156259fd3
8:144999382 PLEC C>T	8	144999382	144999382	C	T	PLEC	c.4715G>A	NM_201384.3	NP_958786.1:p.(Arg1572His)	NC_000008.10:g.144999382C>T	VUS	1 lab	615847ece6
16:23614990 PALB2 C>G	16	23614990	23614990	C	G	PALB2	c.3351G>C	NM_024675.4	NP_078951.2:p.(Arg1117Ser)	NC_000016.9:g.23614990C>G	VUS	1 lab	61589465ea
5:33459895 TARS1 C>T	5	33459895	33459895	C	T	TARS1	c.1179C>T	NM_152295.5	NP_689508.3:p.(Ser393=)	NC_000005.9:g.33459895C>T	(Likely) benign	1 lab	6158d21d81
7:101200794 COL26A1 C>T	7	101200794	101200794	C	T	COL26A1	c.1310C>T	NM_001278563.3	NP_001265492.1:p.(Ala437Val)	NC_000007.13:g.101200794C>T	VUS	1 lab	61600c69b3
6:87928426 ZNF292 A>G	6	87928426	87928426	A	G	ZNF292	c.515A>G	NM_015021.3	NP_055836.1:p.(Gln172Arg)	NC_000006.11:g.87928426A>G	(Likely) benign	1 lab	216ef090ef
13:111138053 COL4A2 C>G	13	111138053	111138053	C	G	COL4A2	c.3077C>G	NM_001846.4	NP_001837.2:p.(Pro1026Arg)	NC_000013.10:g.111138053C>G	VUS	1 lab	61655e9110
4:1801244 FGFR3 G>A	4	1801244	1801244	G	A	FGFR3	c.373G>A	NM_000142.5	NP_000133.1:p.(Val125Met)	NC_000004.11:g.1801244G>A	VUS	1 lab	6165941316
11:17408514 KCNJ11 C>T	11	17408514	17408514	C	T	KCNJ11	c.1125G>A	NM_000525.4	NP_000516.3:p.(Met375Ile)	NC_000011.9:g.17408514C>T	VUS	1 lab	6165f7710c
22:40058214 CACNA1I GC>AA	22	40058214	40058215	GC	AA	CACNA1I	c.3146_3147delinsAA	NM_021096.4	NP_066919.2:p.(Arg1049Gln)	NC_000022.10:g.40058214_40058215delinsAA	VUS	1 lab	61675309d6
17:30264547 SUZ12 T>C	17	30264547	30264547	T	C	SUZ12	c.274+8T>C	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30264547T>C	(Likely) benign	1 lab	616885d1c0
2:166900401 SCN1A G>A	2	166900401	166900401	G	A	SCN1A	c.1821C>T	NM_001165963.3	NP_001159435.1:p.(Ser607=)	NC_000002.11:g.166900401G>A	(Likely) benign	1 lab	227648c90a
X:68725979 NALF2 G>T	X	68725979	68725979	G	T	NALF2	c.854G>T	NM_015686.3	NP_056501.2:p.(Gly285Val)	NC_000023.10:g.68725979G>T	VUS	1 lab	616a47602d
17:61995230 GH1 C>T	17	61995230	61995230	C	T	GH1	c.346G>A	NM_000515.5	NP_000506.2:p.(Val116Met)	NC_000017.10:g.61995230C>T	VUS	1 lab	616b68809f
19:36605702 POLR2I T>C	19	36605702	36605702	T	C	POLR2I	c.57A>G	NM_006233.5	NP_006224.1:p.(Glu19=)	NC_000019.9:g.36605702T>C	VUS	1 lab	616e3ca6c4
17:3623685 ITGAE A>T	17	3623685	3623685	A	T	ITGAE	c.3249T>A	NM_002208.5	NP_002199.3:p.(Asp1083Glu)	NC_000017.10:g.3623685A>T	VUS	1 lab	616e50c7a2
5:13788820 DNAH5 T>G	5	13788820	13788820	T	G	DNAH5	c.8647+5A>C	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13788820T>G	(Likely) benign	1 lab	616e5b82a9
17:57697538 CLTC C>A	17	57697538	57697538	C	A	CLTC	c.42+4C>A	NM_004859.4	NP_004850.1:p.?	NC_000017.10:g.57697538C>A	(Likely) benign	1 lab	616e84dd40
7:120372985 KCND2 G>A	7	120372985	120372985	G	A	KCND2	c.1144G>A	NM_012281.3	NP_036413.1:p.(Ala382Thr)	NC_000007.13:g.120372985G>A	VUS	1 lab	616fc3c426
10:73594159 PSAP G>A	10	73594159	73594159	G	A	PSAP	c.144C>T	NM_002778.4	NP_002769.1:p.(Cys48=)	NC_000010.10:g.73594159G>A	(Likely) benign	1 lab	61711d5b31
14:77746777 POMT2 A>G	14	77746777	77746777	A	G	POMT2	c.1683T>C	NM_013382.7	NP_037514.2:p.(Asn561=)	NC_000014.8:g.77746777A>G	(Likely) benign	1 lab	61718e3d6b
14:23893310 MYH7 T>G	14	23893310	23893310	T	G	MYH7	c.2728A>C	NM_000257.2	NP_000248.2:p.(Lys910Gln)	NC_000014.8:g.23893310T>G	VUS	1 lab	22767f837b
19:42841057 MEGF8 G>A	19	42841057	42841057	G	A	MEGF8	c.1343G>A	NM_001271938.2	NP_001258867.1:p.(Arg448Gln)	NC_000019.9:g.42841057G>A	VUS	1 lab	6172825369
19:15272375 NOTCH3 G>A	19	15272375	15272375	G	A	NOTCH3	c.6064C>T	NM_000435.3	NP_000426.2:p.(Arg2022Cys)	NC_000019.9:g.15272375G>A	VUS	1 lab	617285674e
7:139717523 TBXAS1 G>T	7	139717523	139717523	G	T	TBXAS1	c.1417G>T	NM_001061.7	NP_001052.3:p.(Gly473Trp)	NC_000007.13:g.139717523G>T	VUS	1 lab	61750e523a
22:28194912 MN1 T>TTGCTGCTGCTGC	22	28194912	28194932	T	TTGCTGCTGCTGC	MN1	c.1608_1619dup	NM_002430.3	NP_002421.3:p.(Gln547_Gln550dup)	NC_000022.10:g.28194921_28194932dup	VUS	1 lab	617523ebf2
6:152599308 SYNE1 C>A	6	152599308	152599308	C	A	SYNE1	c.18489G>T	NM_182961.4	NP_892006.3:p.(Glu6163Asp)	NC_000006.11:g.152599308C>A	VUS	1 lab	6176df6ca9
10:127483444 UROS CT>C	10	127483444	127483446	CT	C	UROS	c.660+4del	NM_000375.3	NP_000366.1:p.?	NC_000010.10:g.127483446del	VUS	1 lab	617790fc10
1:180243550 LHX4 A>C	1	180243550	180243550	A	C	LHX4	c.1009A>C	NM_033343.4	NP_203129.1:p.(Asn337His)	NC_000001.10:g.180243550A>C	(Likely) benign	1 lab	6177ab86da
6:152841661 SYNE1 C>T	6	152841661	152841661	C	T	SYNE1	c.242G>A	NM_182961.4	NP_892006.3:p.(Arg81His)	NC_000006.11:g.152841661C>T	VUS	1 lab	61789a7a12
8:41790408 KAT6A A>G	8	41790408	41790408	A	G	KAT6A	c.5330T>C	NM_006766.5	NP_006757.2:p.(Val1777Ala)	NC_000008.10:g.41790408A>G	VUS	1 lab	6178f791a9
19:45868349 ERCC2 C>T	19	45868349	45868349	C	T	ERCC2	c.428G>A	NM_000400.4	NP_000391.1:p.(Arg143Gln)	NC_000019.9:g.45868349C>T	VUS	1 lab	617a39b0ae
20:10653401 JAG1 C>CTGGCCT	20	10653401	10653409	C	CTGGCCT	JAG1	c.329_334dup	NM_000214.3	NP_000205.1:p.(Lys110_Ala111dup)	NC_000020.10:g.10653404_10653409dup	VUS	1 lab	617c667008
16:87723838 JPH3 T>C	16	87723838	87723838	T	C	JPH3	c.1872T>C	NM_020655.4	NP_065706.2:p.(His624=)	NC_000016.9:g.87723838T>C	(Likely) benign	1 lab	216fb12841
9:135946368 CEL C>G	9	135946368	135946368	C	G	CEL	c.1485-6C>G	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135946368C>G	(Likely) benign	1 lab	617ca9df05
6:157522097 ARID1B A>G	6	157522097	157522097	A	G	ARID1B	c.4738A>G	NM_001374828.1	NP_001361757.1:p.(Ser1580Gly)	NC_000006.11:g.157522097A>G	VUS	1 lab	617fc9a3d7
3:105464863 CBLB C>T	3	105464863	105464863	C	T	CBLB	c.743G>A	NM_170662.5	NP_733762.2:p.(Arg248Gln)	NC_000003.11:g.105464863C>T	VUS	1 lab	6181385a15
1:153660263 NPR1 A>G	1	153660263	153660263	A	G	NPR1	c.2246A>G	NM_000906.4	NP_000897.3:p.(Lys749Arg)	NC_000001.10:g.153660263A>G	VUS	1 lab	6184a75b6b
1:225211470 DNAH14 C>T	1	225211470	225211470	C	T	DNAH14	c.1261C>T	NM_001367479.1	NP_001354408.1:p.(Gln421Ter)	NC_000001.10:g.225211470C>T	VUS	1 lab	6185c9ddbb
12:121176976 ACADS G>A	12	121176976	121176976	G	A	ACADS	c.1063G>A	NM_000017.4	NP_000008.1:p.(Ala355Thr)	NC_000012.11:g.121176976G>A	VUS	1 lab	6187dbe363
20:60901762 LAMA5 C>T	20	60901762	60901762	C	T	LAMA5	c.5269G>A	NM_005560.6	NP_005551.3:p.(Val1757Ile)	NC_000020.10:g.60901762C>T	(Likely) benign	1 lab	6187ddef2d
1:8384748 SLC45A1 A>G	1	8384748	8384748	A	G	SLC45A1	c.359A>G	NM_001080397.3	NP_001073866.3:p.(Gln120Arg)	NC_000001.10:g.8384748A>G	VUS	1 lab	618903f6a3
5:893195 TRIP13 C>A	5	893195	893195	C	A	TRIP13	c.82C>A	NM_004237.4	NP_004228.1:p.(Arg28Ser)	NC_000005.9:g.893195C>A	VUS	1 lab	618a3ae0f4
X:118222333 KIAA1210 A>G	X	118222333	118222333	A	G	KIAA1210	c.2332T>C	NM_001394962.1	NP_001381891.1:p.(Trp778Arg)	NC_000023.10:g.118222333A>G	(Likely) benign	1 lab	618a504ebe
4:151504788 LRBA G>A	4	151504788	151504788	G	A	LRBA	c.6330+4412C>T	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151504788G>A	VUS	1 lab	618aafd61d
16:29810594 KIF22 C>T	16	29810594	29810594	C	T	KIF22	c.769C>T	NM_007317.3	NP_015556.1:p.(Arg257Trp)	NC_000016.9:g.29810594C>T	(Likely) benign	1 lab	618d24e655
4:38777037 TLR10 G>T	4	38777037	38777037	G	T	TLR10	c.175C>A	NM_030956.4	NP_112218.2:p.(Leu59Ile)	NC_000004.11:g.38777037G>T	(Likely) benign	1 lab	618f2e4096
17:60683530 TLK2 AC>A	17	60683530	60683532	AC	A	TLK2	c.1901del	NM_006852.6	NP_006843.2:p.(Pro634GlnfsTer14)	NC_000017.10:g.60683532del	(Likely) pathogenic	1 lab	618fb7ff96
16:5140325 EEF2KMT C>A	16	5140325	5140325	C	A	EEF2KMT	c.502G>T	NM_201400.4	NP_958802.1:p.(Ala168Ser)	NC_000016.9:g.5140325C>A	VUS	1 lab	6193f2cda2
16:20809856 ERI2 G>A	16	20809856	20809856	G	A	ERI2	c.1266C>T	NM_001142725.2	NP_001136197.1:p.(Asn422=)	NC_000016.9:g.20809856G>A	VUS	1 lab	61943b23a7
2:73678827 ALMS1 G>T	2	73678827	73678827	G	T	ALMS1	c.5173G>T	NM_001378454.1	NP_001365383.1:p.(Ala1725Ser)	NC_000002.11:g.73678827G>T	(Likely) benign	1 lab	61951116f0
1:1149080 TNFRSF4 G>A	1	1149080	1149080	G	A	TNFRSF4	c.231C>T	NM_003327.4	NP_003318.1:p.(Ser77=)	NC_000001.10:g.1149080G>A	VUS	1 lab	6195168962
4:123664725 BBS12 AAAG>A	4	123664725	123664730	AAAG	A	BBS12	c.1681_1683del	NM_001178007.2	NP_001171478.1:p.(Glu561del)	NC_000004.11:g.123664728_123664730del	VUS	1 lab	2170be8400
3:184542480 VPS8 A>T	3	184542480	184542480	A	T	VPS8	c.60A>T	NM_001009921.3	NP_001009921.1:p.(Glu20Asp)	NC_000003.11:g.184542480A>T	(Likely) benign	1 lab	619684b770
X:73740842 SLC16A2 G>A	X	73740842	73740842	G	A	SLC16A2	c.448G>A	NM_006517.5	NP_006508.2:p.(Ala150Thr)	NC_000023.10:g.73740842G>A	(Likely) pathogenic	1 lab	6196de71f1
12:90010285 ATP2B1 G>T	12	90010285	90010285	G	T	ATP2B1	c.2067+294C>A	NM_001366521.1	NP_001353450.1:p.?	NC_000012.11:g.90010285G>T	(Likely) benign	1 lab	6197843a99
12:49419982 KMT2D G>C	12	49419982	49419982	G	C	KMT2D	c.15767C>G	NM_003482.4	NP_003473.3:p.(Thr5256Ser)	NC_000012.11:g.49419982G>C	(Likely) benign	1 lab	6198680f6c
15:90191977 KIF7 C>T	15	90191977	90191977	C	T	KIF7	c.952G>A	NM_198525.3	NP_940927.2:p.(Ala318Thr)	NC_000015.9:g.90191977C>T	VUS	1 lab	6198a9d926
5:176683972 NSD1 T>C	5	176683972	176683972	T	C	NSD1	c.4786T>C	NM_022455.5	NP_071900.2:p.(Cys1596Arg)	NC_000005.9:g.176683972T>C	(Likely) pathogenic	1 lab	6198c845da
2:182543554 NEUROD1 C>G	2	182543554	182543554	C	G	NEUROD1	c.34G>C	NM_002500.5	NP_002491.3:p.(Gly12Arg)	NC_000002.11:g.182543554C>G	(Likely) benign	1 lab	619901847e
7:75053902 POM121C G>A	7	75053902	75053902	G	A	POM121C	c.778C>T	NM_001099415.3	NP_001092885.2:p.(Pro260Ser)	NC_000007.13:g.75053902G>A	VUS	1 lab	6199ae2356
3:2778015 CNTN4 C>A	3	2778015	2778015	C	A	CNTN4	c.172C>A	NM_175607.3	NP_783200.1:p.(Pro58Thr)	NC_000003.11:g.2778015C>A	VUS	1 lab	6199df4c17
21:35154315 ITSN1 C>T	21	35154315	35154315	C	T	ITSN1	c.1702C>T	NM_003024.3	NP_003015.2:p.(Leu568Phe)	NC_000021.8:g.35154315C>T	(Likely) benign	1 lab	6199e779e6
1:22191529 HSPG2 C>T	1	22191529	22191529	C	T	HSPG2	c.4433G>A	NM_005529.7	NP_005520.4:p.(Arg1478His)	NC_000001.10:g.22191529C>T	VUS	1 lab	619a1fee9f
7:47944921 PKD1L1 G>A	7	47944921	47944921	G	A	PKD1L1	c.1524C>T	NM_138295.5	NP_612152.1:p.(Ser508=)	NC_000007.13:g.47944921G>A	(Likely) benign	1 lab	619b7fdcf7
15:28493793 HERC2 C>T	15	28493793	28493793	C	T	HERC2	c.3140G>A	NM_004667.6	NP_004658.3:p.(Arg1047Lys)	NC_000015.9:g.28493793C>T	(Likely) benign	1 lab	619c4d2c9e
5:153065849 GRIA1 C>T	5	153065849	153065849	C	T	GRIA1	c.1094C>T	NM_000827.4	NP_000818.2:p.(Thr365Met)	NC_000005.9:g.153065849C>T	VUS	1 lab	619c8b3d38
1:981340 AGRN C>T	1	981340	981340	C	T	AGRN	c.2681-4C>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.981340C>T	(Likely) benign	1 lab	619cb28088
11:66002884 PACS1 A>T	11	66002884	66002884	A	T	PACS1	c.2207+10A>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.66002884A>T	(Likely) benign	1 lab	619d8d9b8e
1:21903021 ALPL C>T	1	21903021	21903021	C	T	ALPL	c.1196C>T	NM_000478.6	NP_000469.3:p.(Ala399Val)	NC_000001.10:g.21903021C>T	(Likely) pathogenic	1 lab	619e37828e
6:51777285 PKHD1 T>G	6	51777285	51777285	T	G	PKHD1	c.6211A>C	NM_138694.4	NP_619639.3:p.(Asn2071His)	NC_000006.11:g.51777285T>G	(Likely) benign	1 lab	619ea21f7d
11:44193237 EXT2 G>A	11	44193237	44193237	G	A	EXT2	c.1250G>A	NM_207122.2	NP_997005.1:p.(Arg417Gln)	NC_000011.9:g.44193237G>A	VUS	1 lab	619ec68a89
12:122958104 ZCCHC8 T>C	12	122958104	122958104	T	C	ZCCHC8	c.2064A>G	NM_017612.5	NP_060082.2:p.(Ile688Met)	NC_000012.11:g.122958104T>C	VUS	1 lab	619f172963
9:118119 FOXD4 T>C	9	118119	118119	T	C	FOXD4	c.1A>G	NM_207305.5	NP_997188.2:p.(Met1?)	NC_000009.11:g.118119T>C	(Likely) benign	1 lab	61a02be5c9
2:196753011 DNAH7 A>C	2	196753011	196753011	A	C	DNAH7	c.5377T>G	NM_018897.3	NP_061720.2:p.(Ser1793Ala)	NC_000002.11:g.196753011A>C	VUS	1 lab	61a06cc4b4
6:29638101 MOG T>A	6	29638101	29638101	T	A	MOG	c.636T>A	NM_206809.4	NP_996532.2:p.(Phe212Leu)	NC_000006.11:g.29638101T>A	(Likely) benign	1 lab	61a14d3454
7:155596130 SHH G>C	7	155596130	155596130	G	C	SHH	c.853C>G	NM_000193.4	NP_000184.1:p.(Pro285Ala)	NC_000007.13:g.155596130G>C	VUS	1 lab	61a276cacc
5:60628350 ZSWIM6 G>A	5	60628350	60628350	G	A	ZSWIM6	c.251G>A	NM_020928.2	NP_065979.1:p.(Arg84Lys)	NC_000005.9:g.60628350G>A	VUS	1 lab	61a3920463
5:195130 LRRC14B C>T	5	195130	195130	C	T	LRRC14B	c.1207C>T	NM_001080478.3	NP_001073947.1:p.(Arg403Cys)	NC_000005.9:g.195130C>T	VUS	1 lab	61a4b2f2b4
3:186459791 KNG1 GCA>G	3	186459791	186459795	GCA	G	KNG1	c.1609_1610del	NM_001102416.3	NP_001095886.1:p.(Gln537AspfsTer25)	NC_000003.11:g.186459794_186459795del	VUS	1 lab	61a7f95450
16:2153886 PKD1 GATGAGGTCTCCTGCAGACATGC>G	16	2153886	2153908	GATGAGGTCTCCTGCAGACATGC	G	PKD1	c.8162-12_8171del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2153887_2153908del	(Likely) pathogenic	1 lab	61a94d4cf3
17:61498694 TANC2 C>T	17	61498694	61498694	C	T	TANC2	c.5603C>T	NM_001394998.1	NP_001381927.1:p.(Pro1868Leu)	NC_000017.10:g.61498694C>T	VUS	1 lab	61a9b332a7
5:157161603 THG1L G>A	5	157161603	157161603	G	A	THG1L	c.388G>A	NM_017872.5	NP_060342.2:p.(Ala130Thr)	NC_000005.9:g.157161603G>A	VUS	1 lab	61aa40b55f
16:89357087 ANKRD11 G>A	16	89357087	89357087	G	A	ANKRD11	c.547C>T	NM_013275.6	NP_037407.4:p.(Arg183Cys)	NC_000016.9:g.89357087G>A	VUS	1 lab	61abfc40b8
12:123470717 PITPNM2 C>A	12	123470717	123470717	C	A	PITPNM2	c.3907G>T	NM_020845.3	NP_065896.1:p.(Gly1303Trp)	NC_000012.11:g.123470717C>A	VUS	1 lab	61acb4f3f0
X:100079227 CSTF2 C>G	X	100079227	100079227	C	G	CSTF2	c.683C>G	NM_001325.3	NP_001316.1:p.(Ala228Gly)	NC_000023.10:g.100079227C>G	(Likely) benign	1 lab	61aedc636d
2:70524396 TIMCC C>T	2	70524396	70524396	C	T	TIMCC	c.*25G>A	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524396C>T	VUS	1 lab	61af6a14ec
3:71821964 PROK2 G>A	3	71821964	71821964	G	A	PROK2	c.301C>T	NM_001126128.2	NP_001119600.1:p.(Arg101Trp)	NC_000003.11:g.71821964G>A	VUS	1 lab	61b03fb72d
2:179422940 TTN C>G	2	179422940	179422940	C	G	TTN	c.87141G>C	NM_001267550.2	NP_001254479.2:p.(Lys29047Asn)	NC_000002.11:g.179422940C>G	VUS	1 lab	61b0b2ee7a
17:40354429 STAT5B G>A	17	40354429	40354429	G	A	STAT5B	c.2166C>T	NM_012448.4	NP_036580.2:p.(Ser722=)	NC_000017.10:g.40354429G>A	(Likely) benign	1 lab	61b1b4da52
13:77724949 MYCBP2 G>T	13	77724949	77724949	G	T	MYCBP2	c.7051C>A	NM_015057.5	NP_055872.4:p.(Leu2351Met)	NC_000013.10:g.77724949G>T	(Likely) benign	1 lab	61b268da01
4:109084821 LEF1 G>A	4	109084821	109084821	G	A	LEF1	c.317C>T	NM_016269.5	NP_057353.1:p.(Pro106Leu)	NC_000004.11:g.109084821G>A	(Likely) benign	1 lab	61b4531f26
16:16282764 ABCC6 A>G	16	16282764	16282764	A	G	ABCC6	c.1703T>C	NM_001171.6	NP_001162.5:p.(Phe568Ser)	NC_000016.9:g.16282764A>G	(Likely) pathogenic	1 lab	61b4c5acaa
16:3139765 ZSCAN10 C>T	16	3139765	3139765	C	T	ZSCAN10	c.1670G>A	NM_032805.3	NP_116194.2:p.(Arg557His)	NC_000016.9:g.3139765C>T	VUS	1 lab	61b4ce44c4
10:75599312 CAMK2G C>T	10	75599312	75599312	C	T	CAMK2G	c.994G>A	NM_001367534.1	NP_001354463.1:p.(Gly332Ser)	NC_000010.10:g.75599312C>T	(Likely) benign	1 lab	61b4e03349
1:200587142 KIF14 G>A	1	200587142	200587142	G	A	KIF14	c.710C>T	NM_014875.3	NP_055690.1:p.(Thr237Met)	NC_000001.10:g.200587142G>A	VUS	1 lab	61b58cf249
13:103249509 TPP2 G>A	13	103249509	103249509	G	A	TPP2	c.121G>A	NM_003291.4	NP_003282.2:p.(Ala41Thr)	NC_000013.10:g.103249509G>A	(Likely) benign	1 lab	227a9d1e1a
14:74040102 ACOT2 C>CT	14	74040102	74040105	C	CT	ACOT2	c.657dup	NM_006821.6	NP_006812.3:p.(Pro220SerfsTer19)	NC_000014.8:g.74040105dup	VUS	1 lab	61b8de96a6
13:108861975 LIG4 A>G	13	108861975	108861975	A	G	LIG4	c.1642T>C	NM_206937.2	NP_996820.1:p.(Tyr548His)	NC_000013.10:g.108861975A>G	VUS	1 lab	61ba1dbc19
1:47716975 STIL C>T	1	47716975	47716975	C	T	STIL	c.3700G>A	NM_001048166.1	NP_001041631.1:p.(Gly1234Arg)	NC_000001.10:g.47716975C>T	VUS	1 lab	61bb8e24ca
3:15499787 COLQ G>A	3	15499787	15499787	G	A	COLQ	c.860C>T	NM_005677.4	NP_005668.2:p.(Pro287Leu)	NC_000003.11:g.15499787G>A	VUS	1 lab	61bbe11d52
18:3452135 TGIF1 C>G	18	3452135	3452135	C	G	TGIF1	c.16+1632C>G	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3452135C>G	(Likely) benign	1 lab	62339ca660
20:52675510 BCAS1 T>C	20	52675510	52675510	T	C	BCAS1	c.-5-248A>G	NM_001366298.2	NP_001353227.1:p.?	NC_000020.10:g.52675510T>C	(Likely) benign	1 lab	61bbef3787
X:19389463 MAP3K15 G>A	X	19389463	19389463	G	A	MAP3K15	c.3294C>T	NM_001001671.4	NP_001001671.3:p.(Ala1098=)	NC_000023.10:g.19389463G>A	(Likely) benign	1 lab	61bca6e109
1:22181380 HSPG2 C>T	1	22181380	22181380	C	T	HSPG2	c.6094G>A	NM_005529.7	NP_005520.4:p.(Gly2032Ser)	NC_000001.10:g.22181380C>T	VUS	1 lab	61bd405c51
18:32374111 DTNA A>G	18	32374111	32374111	A	G	DTNA	c.259A>G	NM_001198939.2	NP_001185868.1:p.(Thr87Ala)	NC_000018.9:g.32374111A>G	VUS	1 lab	2178042068
19:36277639 ARHGAP33 C>T	19	36277639	36277639	C	T	ARHGAP33	c.2267C>T	NM_001366178.1	NP_001353107.1:p.(Ala756Val)	NC_000019.9:g.36277639C>T	(Likely) benign	1 lab	61c034d823
1:227172992 COQ8A T>C	1	227172992	227172992	T	C	COQ8A	c.1610T>C	NM_020247.5	NP_064632.2:p.(Val537Ala)	NC_000001.10:g.227172992T>C	(Likely) benign	1 lab	61c0741847
16:88783287 PIEZO1 G>A	16	88783287	88783287	G	A	PIEZO1	c.6680C>T	NM_001142864.4	NP_001136336.2:p.(Ala2227Val)	NC_000016.9:g.88783287G>A	VUS	1 lab	61c1322c54
7:98793787 KPNA7 G>A	7	98793787	98793787	G	A	KPNA7	c.204C>T	NM_001145715.3	NP_001139187.1:p.(Val68=)	NC_000007.13:g.98793787G>A	VUS	1 lab	61c8588aa6
10:70775609 KIFBP T>G	10	70775609	70775609	T	G	KIFBP	c.1303T>G	NM_015634.4	NP_056449.1:p.(Phe435Val)	NC_000010.10:g.70775609T>G	VUS	1 lab	61c90e7c55
13:110831309 COL4A1 T>TAGCTCC	13	110831309	110831317	T	TAGCTCC	COL4A1	c.2413_2418dup	NM_001845.6	NP_001836.3:p.(Gly805_Ala806dup)	NC_000013.10:g.110831312_110831317dup	(Likely) pathogenic	1 lab	61cab7bce4
4:170639230 CLCN3 A>G	4	170639230	170639230	A	G	CLCN3	c.2367-1828A>G	NM_001829.4	NP_001820.2:p.?	NC_000004.11:g.170639230A>G	(Likely) benign	1 lab	61cba594e4
19:38943604 RYR1 C>A	19	38943604	38943604	C	A	RYR1	c.1390C>A	NM_000540.3	NP_000531.2:p.(Gln464Lys)	NC_000019.9:g.38943604C>A	VUS	1 lab	61cc4c0846
3:50382590 ZMYND10 C>T	3	50382590	50382590	C	T	ZMYND10	c.166G>A	NM_015896.4	NP_056980.2:p.(Glu56Lys)	NC_000003.11:g.50382590C>T	VUS	1 lab	61ccac02db
2:179431297 TTN C>T	2	179431297	179431297	C	T	TTN	c.79562G>A	NM_001267550.2	NP_001254479.2:p.(Gly26521Glu)	NC_000002.11:g.179431297C>T	VUS	1 lab	61cd8aff90
18:3129307 MYOM1 T>G	18	3129307	3129307	T	G	MYOM1	c.2717A>C	NM_003803.4	NP_003794.3:p.(Glu906Ala)	NC_000018.9:g.3129307T>G	VUS	1 lab	62d858c630
16:88501992 ZNF469 G>T	16	88501992	88501992	G	T	ZNF469	c.8114G>T	NM_001367624.2	NP_001354553.1:p.(Gly2705Val)	NC_000016.9:g.88501992G>T	VUS	1 lab	61cfe6ff28
16:3254803 OR1F1 A>G	16	3254803	3254803	A	G	OR1F1	c.557A>G	NM_001370640.6	NP_001357569.2:p.(Lys186Arg)	NC_000016.9:g.3254803A>G	VUS	1 lab	61d0320cbe
14:92465749 TRIP11 C>T	14	92465749	92465749	C	T	TRIP11	c.4727G>A	NM_004239.4	NP_004230.2:p.(Arg1576His)	NC_000014.8:g.92465749C>T	(Likely) benign	1 lab	61d057f1af
9:135944183 CEL C>T	9	135944183	135944183	C	T	CEL	c.1020C>T	NM_001807.6	NP_001798.3:p.(Asp340=)	NC_000009.11:g.135944183C>T	(Likely) benign	1 lab	61d0956657
2:202430450 CATSPERT A>C	2	202430450	202430450	A	C	CATSPERT	c.977+2T>G	NM_001168221.2	NP_001161693.1:p.?	NC_000002.11:g.202430450A>C	VUS	1 lab	61d0dc053b
19:36631998 CAPNS1 C>A	19	36631998	36631998	C	A	CAPNS1	c.85C>A	NM_001749.4	NP_001740.1:p.(Leu29Ile)	NC_000019.9:g.36631998C>A	(Likely) benign	1 lab	61d3158620
17:44109619 KANSL1 C>T	17	44109619	44109619	C	T	KANSL1	c.2884G>A	NM_015443.4	NP_056258.1:p.(Ala962Thr)	NC_000017.10:g.44109619C>T	(Likely) benign	1 lab	61d390cf00
15:79069870 ADAMTS7 C>T	15	79069870	79069870	C	T	ADAMTS7	c.1383G>A	NM_014272.5	NP_055087.2:p.(Ser461=)	NC_000015.9:g.79069870C>T	VUS	1 lab	61d3b074f8
9:139328541 INPP5E C>T	9	139328541	139328541	C	T	INPP5E	c.982G>A	NM_019892.6	NP_063945.2:p.(Asp328Asn)	NC_000009.11:g.139328541C>T	VUS	1 lab	61d4a34e2e
2:152423930 NEB C>A	2	152423930	152423930	C	A	NEB	c.17908G>T	NM_001164508.2	NP_001157980.2:p.(Asp5970Tyr)	NC_000002.11:g.152423930C>A	VUS	1 lab	61d52a9239
20:43030135 HNF4A G>A	20	43030135	43030135	G	A	HNF4A	c.115+8G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43030135G>A	(Likely) benign	1 lab	61d5efae9a
10:27827003 RAB18 G>T	10	27827003	27827003	G	T	RAB18	c.*23G>T	NM_021252.5	NP_067075.1:p.?	NC_000010.10:g.27827003G>T	VUS	1 lab	61d5fafeae
2:149227964 MBD5 A>G	2	149227964	149227964	A	G	MBD5	c.2452A>G	NM_001378120.1	NP_001365049.1:p.(Thr818Ala)	NC_000002.11:g.149227964A>G	(Likely) benign	1 lab	61d604a106
11:108124634 ATM CAT>C	11	108124634	108124636	CAT	C	ATM	c.1993_1994del	NM_000051.4	NP_000042.3:p.(Ile665CysfsTer39)	NC_000011.9:g.108124635_108124636del	(Likely) pathogenic	1 lab	61d730a1b4
22:19754107 TBX1 T>A	22	19754107	19754107	T	A	TBX1	c.1232T>A	NM_001379200.1	NP_001366129.1:p.(Leu411Gln)	NC_000022.10:g.19754107T>A	VUS	1 lab	61d762cc30
15:100537694 ADAMTS17 C>A	15	100537694	100537694	C	A	ADAMTS17	c.2692G>T	NM_139057.4	NP_620688.2:p.(Val898Phe)	NC_000015.9:g.100537694C>A	(Likely) benign	1 lab	61d7a353ef
12:6707596 CHD4 G>A	12	6707596	6707596	G	A	CHD4	c.1483-5C>T	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6707596G>A	(Likely) benign	1 lab	61d95664c0
16:3658866 SLX4 G>A	16	3658866	3658866	G	A	SLX4	c.100C>T	NM_032444.4	NP_115820.2:p.(Gln34Ter)	NC_000016.9:g.3658866G>A	VUS	1 lab	61db70a7ef
X:103349855 SLC25A53 T>C	X	103349855	103349855	T	C	SLC25A53	c.86A>G	NM_001012755.5	NP_001012773.2:p.(Gln29Arg)	NC_000023.10:g.103349855T>C	VUS	1 lab	61dbc3e1de
1:112309184 DDX20 A>G	1	112309184	112309184	A	G	DDX20	c.2138A>G	NM_007204.5	NP_009135.4:p.(Glu713Gly)	NC_000001.10:g.112309184A>G	(Likely) benign	1 lab	61de14ac3b
1:203831062 SNRPE A>G	1	203831062	203831062	A	G	SNRPE	c.54+221A>G	NM_003094.4	NP_003085.1:p.?	NC_000001.10:g.203831062A>G	VUS	1 lab	61de6fb76b
17:12626223 MYOCD G>A	17	12626223	12626223	G	A	MYOCD	c.313G>A	NM_001146312.3	NP_001139784.1:p.(Ala105Thr)	NC_000017.10:g.12626223G>A	VUS	1 lab	61dee0766c
19:18896933 COMP G>C	19	18896933	18896933	G	C	COMP	c.1331C>G	NM_000095.3	NP_000086.2:p.(Ser444Cys)	NC_000019.9:g.18896933G>C	VUS	1 lab	61dfa16aaf
8:145697960 KIFC2 A>G	8	145697960	145697960	A	G	KIFC2	c.1732A>G	NM_001369769.2	NP_001356698.1:p.(Met578Val)	NC_000008.10:g.145697960A>G	(Likely) benign	1 lab	61dfe5a4d1
4:151773028 LRBA T>C	4	151773028	151773028	T	C	LRBA	c.3825+9A>G	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151773028T>C	(Likely) benign	1 lab	61e0c59691
1:151378812 POGZ A>C	1	151378812	151378812	A	C	POGZ	c.2699T>G	NM_015100.4	NP_055915.2:p.(Leu900Arg)	NC_000001.10:g.151378812A>C	(Likely) benign	1 lab	61e1227fe0
12:123444247 ABCB9 G>C	12	123444247	123444247	G	C	ABCB9	c.536C>G	NM_019625.4	NP_062571.1:p.(Ser179Cys)	NC_000012.11:g.123444247G>C	VUS	1 lab	61e28c314f
8:100866298 VPS13B C>T	8	100866298	100866298	C	T	VPS13B	c.10681C>T	NM_152564.5	NP_689777.3:p.(Arg3561Trp)	NC_000008.10:g.100866298C>T	VUS	1 lab	61e3167cea
17:74524651 CYGB T>G	17	74524651	74524651	T	G	CYGB	c.*9A>C	NM_134268.5	NP_599030.1:p.?	NC_000017.10:g.74524651T>G	(Likely) benign	1 lab	61e3632e51
5:32783134 NPR3 T>C	5	32783134	32783134	T	C	NPR3	c.1426T>C	NM_001204375.2	NP_001191304.1:p.(Ser476Pro)	NC_000005.9:g.32783134T>C	VUS	1 lab	61e3c3f3c3
17:62034875 SCN4A G>A	17	62034875	62034875	G	A	SCN4A	c.2023C>T	NM_000334.4	NP_000325.4:p.(Arg675Trp)	NC_000017.10:g.62034875G>A	(Likely) pathogenic	1 lab	61e523db2a
20:5294763 PROKR2 G>C	20	5294763	5294763	G	C	PROKR2	c.253C>G	NM_144773.4	NP_658986.1:p.(Arg85Gly)	NC_000020.10:g.5294763G>C	(Likely) benign	1 lab	61e5595a94
4:151412066 LRBA T>C	4	151412066	151412066	T	C	LRBA	c.6448+4A>G	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151412066T>C	(Likely) benign	1 lab	61e5a9b2cb
7:69064745 AUTS2 G>C	7	69064745	69064745	G	C	AUTS2	c.106G>C	NM_015570.4	NP_056385.1:p.(Gly36Arg)	NC_000007.13:g.69064745G>C	VUS	1 lab	2182394e71
16:3304625 MEFV T>A	16	3304625	3304625	T	A	MEFV	c.443A>T	NM_000243.2	NP_000234.1:p.(Glu148Val)	NC_000016.9:g.3304625T>A	VUS	1 lab	227ccc0cd3
1:247587646 NLRP3 A>G	1	247587646	247587646	A	G	NLRP3	c.895A>G	NM_001243133.2	NP_001230062.1:p.(Met299Val)	NC_000001.10:g.247587646A>G	VUS	1 lab	227d60018a
7:73477478 ELN C>A	7	73477478	73477478	C	A	ELN	c.1787-5C>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73477478C>A	VUS	1 lab	61e85eb86f
12:51135280 DIP2B T>C	12	51135280	51135280	T	C	DIP2B	c.4436T>C	NM_173602.3	NP_775873.2:p.(Ile1479Thr)	NC_000012.11:g.51135280T>C	VUS	1 lab	61e8fd8f90
19:11136124 SMARCA4 GA>G	19	11136124	11136126	GA	G	SMARCA4	c.3110del	NM_003072.5	NP_003063.2:p.(Asn1037ThrfsTer69)	NC_000019.9:g.11136126del	(Likely) pathogenic	1 lab	61e98ae146
X:100746012 ARMCX4 G>T	X	100746012	100746012	G	T	ARMCX4	c.2436G>T	NM_001256155.3	NP_001243084.2:p.(Trp812Cys)	NC_000023.10:g.100746012G>T	(Likely) benign	1 lab	61ec7b8ea2
13:111117920 COL4A2 C>T	13	111117920	111117920	C	T	COL4A2	c.1945C>T	NM_001846.4	NP_001837.2:p.(Pro649Ser)	NC_000013.10:g.111117920C>T	VUS	1 lab	61ee9255fb
19:36333098 NPHS1 C>T	19	36333098	36333098	C	T	NPHS1	c.2591G>A	NM_004646.4	NP_004637.1:p.(Arg864His)	NC_000019.9:g.36333098C>T	VUS	1 lab	61efc58b9c
5:56177983 MAP3K1 CCTT>C	5	56177983	56177994	CCTT	C	MAP3K1	c.2965_2967del	NM_005921.2	NP_005912.1:p.(Ser989del)	NC_000005.9:g.56177992_56177994del	VUS	1 lab	61efeeebe1
7:103155863 RELN C>T	7	103155863	103155863	C	T	RELN	c.7888G>A	NM_005045.4	NP_005036.2:p.(Asp2630Asn)	NC_000007.13:g.103155863C>T	VUS	1 lab	61f000d257
8:68030480 CSPP1 C>T	8	68030480	68030480	C	T	CSPP1	c.1497-3C>T	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.68030480C>T	VUS	1 lab	61f01aeef5
12:111785429 CUX2 CAGA>C	12	111785429	111785432	CAGA	C	CUX2	c.3762_3764del	NM_015267.4	NP_056082.2:p.(Asp1255del)	NC_000012.11:g.111785430_111785432del	(Likely) benign	1 lab	61f01cc80f
17:60028343 MED13 C>T	17	60028343	60028343	C	T	MED13	c.6134G>A	NM_005121.3	NP_005112.2:p.(Arg2045Gln)	NC_000017.10:g.60028343C>T	VUS	1 lab	61f05cf753
2:220422181 OBSL1 A>T	2	220422181	220422181	A	T	OBSL1	c.3950T>A	NM_015311.3	NP_056126.1:p.(Leu1317Gln)	NC_000002.11:g.220422181A>T	(Likely) benign	1 lab	61f3c21532
5:149737367 TCOF1 C>T	5	149737367	149737367	C	T	TCOF1	c.58C>T	NM_001371623.1	NP_001358552.1:p.(Arg20Trp)	NC_000005.9:g.149737367C>T	VUS	1 lab	61f6c68368
9:88356862 AGTPBP1 C>A	9	88356862	88356862	C	A	AGTPBP1	c.-206G>T	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88356862C>A	VUS	1 lab	61f763a6cf
22:40058214 CACNA1I G>A	22	40058214	40058214	G	A	CACNA1I	c.3146G>A	NM_021096.4	NP_066919.2:p.(Arg1049His)	NC_000022.10:g.40058214G>A	VUS	1 lab	61f7809b72
19:48946319 GRIN2D T>C	19	48946319	48946319	T	C	GRIN2D	c.3136T>C	NM_000836.4	NP_000827.2:p.(Cys1046Arg)	NC_000019.9:g.48946319T>C	VUS	1 lab	61f831aeb4
18:2924545 LPIN2 CT>C	18	2924545	2924549	CT	C	LPIN2	c.1939-2del	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2924549del	(Likely) benign	1 lab	21835dde42
7:44323334 CAMK2B C>T	7	44323334	44323334	C	T	CAMK2B	c.160+396G>A	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44323334C>T	(Likely) benign	1 lab	61f95bd253
2:179614304 TTN G>T	2	179614304	179614304	G	T	TTN	c.11311+3547C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179614304G>T	VUS	1 lab	61f98c0ce3
9:140243566 EXD3 C>T	9	140243566	140243566	C	T	EXD3	c.1826G>A	NM_017820.5	NP_060290.3:p.(Arg609Lys)	NC_000009.11:g.140243566C>T	(Likely) benign	1 lab	61fc98ffbe
22:42458863 NAGA G>A	22	42458863	42458863	G	A	NAGA	c.925C>T	NM_000262.3	NP_000253.1:p.(Pro309Ser)	NC_000022.10:g.42458863G>A	VUS	1 lab	61fe279aab
16:1256130 CACNA1H A>G	16	1256130	1256130	A	G	CACNA1H	c.2630A>G	NM_021098.3	NP_066921.2:p.(Asp877Gly)	NC_000016.9:g.1256130A>G	VUS	1 lab	61ff8eccb5
5:137497477 BRD8 T>C	5	137497477	137497477	T	C	BRD8	c.2249+8A>G	NM_139199.2	NP_631938.2:p.?	NC_000005.9:g.137497477T>C	(Likely) benign	1 lab	61fffe7cb6
16:88901635 GALNS G>A	16	88901635	88901635	G	A	GALNS	c.884C>T	NM_000512.5	NP_000503.1:p.(Ser295Phe)	NC_000016.9:g.88901635G>A	(Likely) pathogenic	1 lab	6202b6c015
15:91561076 VPS33B T>A	15	91561076	91561076	T	A	VPS33B	c.136A>T	NM_018668.5	NP_061138.3:p.(Met46Leu)	NC_000015.9:g.91561076T>A	(Likely) benign	1 lab	6202f1f5e7
15:60907481 RORA T>C	15	60907481	60907481	T	C	RORA	c.196+63375A>G	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60907481T>C	(Likely) benign	1 lab	620321a4c0
1:152279227 FLG T>C	1	152279227	152279227	T	C	FLG	c.8135A>G	NM_002016.2	NP_002007.1:p.(Gln2712Arg)	NC_000001.10:g.152279227T>C	(Likely) benign	1 lab	6204a76aac
16:31473485 ARMC5 C>G	16	31473485	31473485	C	G	ARMC5	c.617C>G	NM_001105247.2	NP_001098717.1:p.(Ala206Gly)	NC_000016.9:g.31473485C>G	VUS	1 lab	620734b45d
9:130440363 STXBP1 C>T	9	130440363	130440363	C	T	STXBP1	c.1360-347C>T	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130440363C>T	(Likely) benign	1 lab	6207544d73
X:139047624 CXorf66 G>A	X	139047624	139047624	G	A	CXorf66	c.32C>T	NM_001013403.3	NP_001013421.1:p.(Ser11Phe)	NC_000023.10:g.139047624G>A	VUS	1 lab	620a837a1c
16:67969976 PSMB10 G>GTA	16	67969976	67969977	G	GTA	PSMB10	c.272_273insTA	NM_002801.4	NP_002792.1:p.(Glu92ThrfsTer3)	NC_000016.9:g.67969976_67969977insTA	VUS	1 lab	620b12e19b
21:45707481 AIRE G>A	21	45707481	45707481	G	A	AIRE	c.538+7G>A	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45707481G>A	(Likely) benign	1 lab	620bd494f6
2:179635941 TTN C>T	2	179635941	179635941	C	T	TTN	c.8113G>A	NM_001267550.2	NP_001254479.2:p.(Glu2705Lys)	NC_000002.11:g.179635941C>T	VUS	1 lab	620bf8af45
5:56178269 MAP3K1 T>A	5	56178269	56178269	T	A	MAP3K1	c.3242T>A	NM_005921.2	NP_005912.1:p.(Met1081Lys)	NC_000005.9:g.56178269T>A	(Likely) benign	1 lab	620c415c7a
12:65141491 GNS C>T	12	65141491	65141491	C	T	GNS	c.459+1G>A	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65141491C>T	VUS	1 lab	620d6f1c75
1:220275522 IARS2 G>A	1	220275522	220275522	G	A	IARS2	c.602G>A	NM_018060.4	NP_060530.3:p.(Arg201His)	NC_000001.10:g.220275522G>A	VUS	1 lab	621039ae38
5:115358099 LVRN A>T	5	115358099	115358099	A	T	LVRN	c.2768A>T	NM_173800.5	NP_776161.3:p.(Gln923Leu)	NC_000005.9:g.115358099A>T	(Likely) benign	1 lab	6210493318
18:65179583 DSEL T>C	18	65179583	65179583	T	C	DSEL	c.2263A>G	NM_032160.3	NP_115536.2:p.(Ile755Val)	NC_000018.9:g.65179583T>C	(Likely) benign	1 lab	621205bdcb
11:64863900 VPS51 C>A	11	64863900	64863900	C	A	VPS51	c.178C>A	NM_013265.4	NP_037397.2:p.(Pro60Thr)	NC_000011.9:g.64863900C>A	VUS	1 lab	621229b2d9
7:143017854 CLCN1 G>C	7	143017854	143017854	G	C	CLCN1	c.399G>C	NM_000083.3	NP_000074.3:p.(Trp133Cys)	NC_000007.13:g.143017854G>C	VUS	1 lab	6212840785
2:109384449 RANBP2 G>T	2	109384449	109384449	G	T	RANBP2	c.7454G>T	NM_006267.5	NP_006258.3:p.(Gly2485Val)	NC_000002.11:g.109384449G>T	(Likely) benign	1 lab	62133f92ab
11:47463254 RAPSN C>T	11	47463254	47463254	C	T	RAPSN	c.821G>A	NM_005055.5	NP_005046.2:p.(Ser274Asn)	NC_000011.9:g.47463254C>T	(Likely) benign	1 lab	62149ad15e
19:4047865 ZBTB7A ACGTCCT>A	19	4047865	4047889	ACGTCCT	A	ZBTB7A	c.1634_1639del	NM_015898.4	NP_056982.1:p.(Glu545_Asp546del)	NC_000019.9:g.4047884_4047889del	(Likely) benign	1 lab	6215171141
16:2153422 PKD1 T>C	16	2153422	2153422	T	C	PKD1	c.8636A>G	NM_001009944.3	NP_001009944.3:p.(Asn2879Ser)	NC_000016.9:g.2153422T>C	VUS	1 lab	6215239c73
X:22291956 CBLL2 C>T	X	22291956	22291956	C	T	CBLL2	c.848C>T	NM_152577.4	NP_689790.1:p.(Ala283Val)	NC_000023.10:g.22291956C>T	(Likely) benign	1 lab	62157ae42a
1:155296440 RUSC1 C>G	1	155296440	155296440	C	G	RUSC1	c.1931C>G	NM_001105203.2	NP_001098673.1:p.(Ser644Cys)	NC_000001.10:g.155296440C>G	VUS	1 lab	6216f22326
9:139094878 LHX3 G>A	9	139094878	139094878	G	A	LHX3	c.79+1902C>T	NM_178138.6	NP_835258.1:p.?	NC_000009.11:g.139094878G>A	(Likely) benign	1 lab	6217fb72ed
19:50910592 POLD1 C>T	19	50910592	50910592	C	T	POLD1	c.1695C>T	NM_002691.4	NP_002682.2:p.(His565=)	NC_000019.9:g.50910592C>T	(Likely) benign	1 lab	621a400b7e
X:67943472 STARD8 C>T	X	67943472	67943472	C	T	STARD8	c.2804C>T	NM_001142503.3	NP_001135975.1:p.(Pro935Leu)	NC_000023.10:g.67943472C>T	VUS	1 lab	621af269bf
9:135946390 CEL G>C	9	135946390	135946390	G	C	CEL	c.1501G>C	NM_001807.6	NP_001798.3:p.(Asp501His)	NC_000009.11:g.135946390G>C	(Likely) benign	1 lab	621c562d6d
2:179301045 PRKRA G>GTTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCAT	2	179301045	179301047	G	GTTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCAT	PRKRA	c.610_611insATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTAA	NM_003690.5	NP_003681.1:p.(Asn183_Leu203dup)	NC_000002.11:g.179301046_179301047insTAAAGAAATGTGGTTCTCTGGAGAAATATTACTAAATTTGGCAAGAAATTTCTCAGCAGCATT	(Likely) benign	1 lab	621cd73cd8
17:38975119 KRT10 TCCGCCGCCGGAGCTGCTG>T	17	38975119	38975153	TCCGCCGCCGGAGCTGCTG	T	KRT10	c.1650_1667del	NM_000421.5	NP_000412.4:p.(Ser551_Gly556del)	NC_000017.10:g.38975136_38975153del	VUS	1 lab	621f3df5b9
9:140657165 EHMT1 C>A	9	140657165	140657165	C	A	EHMT1	c.1540C>A	NM_024757.5	NP_079033.4:p.(Leu514Ile)	NC_000009.11:g.140657165C>A	VUS	1 lab	621f3ea086
8:70498639 SULF1 C>G	8	70498639	70498639	C	G	SULF1	c.460C>G	NM_001128205.2	NP_001121677.1:p.(Pro154Ala)	NC_000008.10:g.70498639C>G	VUS	1 lab	621fa8cd62
2:219920470 IHH A>G	2	219920470	219920470	A	G	IHH	c.695T>C	NM_002181.4	NP_002172.2:p.(Met232Thr)	NC_000002.11:g.219920470A>G	VUS	1 lab	621fe4ea65
3:15478028 EAF1 G>A	3	15478028	15478028	G	A	EAF1	c.706G>A	NM_033083.7	NP_149074.3:p.(Val236Ile)	NC_000003.11:g.15478028G>A	(Likely) benign	1 lab	62242273a2
12:132502116 EP400 C>T	12	132502116	132502116	C	T	EP400	c.3960C>T	NM_015409.5	NP_056224.3:p.(Asn1320=)	NC_000012.11:g.132502116C>T	VUS	1 lab	62249b4e1d
5:111540145 EPB41L4A T>C	5	111540145	111540145	T	C	EPB41L4A	c.1303A>G	NM_022140.5	NP_071423.4:p.(Lys435Glu)	NC_000005.9:g.111540145T>C	(Likely) benign	1 lab	62250bd87f
X:20185843 RPS6KA3 A>G	X	20185843	20185843	A	G	RPS6KA3	c.1466T>C	NM_004586.3	NP_004577.1:p.(Val489Ala)	NC_000023.10:g.20185843A>G	VUS	1 lab	62252d0e1e
17:8700719 MFSD6L C>T	17	8700719	8700719	C	T	MFSD6L	c.1720G>A	NM_152599.4	NP_689812.3:p.(Asp574Asn)	NC_000017.10:g.8700719C>T	(Likely) benign	1 lab	62254dd4d5
7:107258935 BCAP29 G>T	7	107258935	107258935	G	T	BCAP29	c.*127G>T	NM_018844.4	NP_061332.2:p.?	NC_000007.13:g.107258935G>T	(Likely) benign	1 lab	6225863310
9:71833267 TJP2 G>A	9	71833267	71833267	G	A	TJP2	c.334G>A	NM_004817.4	NP_004808.2:p.(Ala112Thr)	NC_000009.11:g.71833267G>A	VUS	1 lab	62270390b7
1:160109976 ATP1A2 C>T	1	160109976	160109976	C	T	ATP1A2	c.3034+202C>T	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160109976C>T	(Likely) benign	1 lab	62282c5881
8:144523241 ZC3H3 G>C	8	144523241	144523241	G	C	ZC3H3	c.2357C>G	NM_015117.3	NP_055932.2:p.(Ala786Gly)	NC_000008.10:g.144523241G>C	(Likely) benign	1 lab	622a554cfa
15:99460040 IGF1R G>A	15	99460040	99460040	G	A	IGF1R	c.2136G>A	NM_000875.5	NP_000866.1:p.(Glu712=)	NC_000015.9:g.99460040G>A	(Likely) benign	1 lab	622b994281
5:170827156 NPM1 GTGA>G	5	170827156	170827172	GTGA	G	NPM1	c.538_540del	NM_002520.7	NP_002511.1:p.(Asp180del)	NC_000005.9:g.170827170_170827172del	VUS	1 lab	622cc21a23
X:70776795 OGT CT>C	X	70776795	70776799	CT	C	OGT	c.1167-3del	NM_181672.3	NP_858058.1:p.?	NC_000023.10:g.70776799del	VUS	1 lab	6230432a7b
3:47098439 SETD2 A>G	3	47098439	47098439	A	G	SETD2	c.6835T>C	NM_014159.7	NP_054878.5:p.(Ser2279Pro)	NC_000003.11:g.47098439A>G	(Likely) benign	1 lab	62308768d6
22:20302249 DGCR6L C>T	22	20302249	20302249	C	T	DGCR6L	c.612G>A	NM_033257.4	NP_150282.2:p.(Trp204Ter)	NC_000022.10:g.20302249C>T	VUS	1 lab	62313e17d5
12:32884451 DNM1L G>A	12	32884451	32884451	G	A	DNM1L	c.1356+6G>A	NM_012062.5	NP_036192.2:p.?	NC_000012.11:g.32884451G>A	(Likely) benign	1 lab	6231ce3e62
X:34148843 FAM47A C>T	X	34148843	34148843	C	T	FAM47A	c.1553G>A	NM_203408.4	NP_981953.2:p.(Arg518His)	NC_000023.10:g.34148843C>T	VUS	1 lab	62345e58e2
3:148714217 GYG1 C>T	3	148714217	148714217	C	T	GYG1	c.272C>T	NM_004130.4	NP_004121.2:p.(Ser91Leu)	NC_000003.11:g.148714217C>T	VUS	1 lab	6234f3d142
19:13409459 CACNA1A G>GGGGCCC	19	13409459	13409465	G	GGGGCCC	CACNA1A	c.2994_2999dup	NM_023035.3	NP_075461.2:p.(Gly999_Pro1000dup)	NC_000019.9:g.13409460_13409465dup	VUS	1 lab	2188c70ea7
6:10410135 TFAP2A G>T	6	10410135	10410135	G	T	TFAP2A	c.485C>A	NM_001372066.1	NP_001358995.1:p.(Pro162Gln)	NC_000006.11:g.10410135G>T	(Likely) benign	1 lab	6237ed2b8d
15:65369381 KBTBD13 C>G	15	65369381	65369381	C	G	KBTBD13	c.228C>G	NM_001101362.3	NP_001094832.1:p.(Asp76Glu)	NC_000015.9:g.65369381C>G	(Likely) benign	1 lab	62388941e1
3:157817683 SHOX2 A>T	3	157817683	157817683	A	T	SHOX2	c.668T>A	NM_001163678.2	NP_001157150.1:p.(Val223Asp)	NC_000003.11:g.157817683A>T	VUS	1 lab	6239570146
17:78041296 CCDC40 T>C	17	78041296	78041296	T	C	CCDC40	c.1562+1891T>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78041296T>C	(Likely) benign	1 lab	623a5adde6
10:76430001 ADK A>G	10	76430001	76430001	A	G	ADK	c.938A>G	NM_006721.4	NP_006712.2:p.(Asn313Ser)	NC_000010.10:g.76430001A>G	VUS	1 lab	623a908dab
11:17134151 PIK3C2A AG>A	11	17134151	17134154	AG	A	PIK3C2A	c.3383del	NM_002645.4	NP_002636.2:p.(Pro1128LeufsTer21)	NC_000011.9:g.17134154del	VUS	1 lab	623b2538f9
12:121437190 HNF1A C>T	12	121437190	121437190	C	T	HNF1A	c.1621C>T	NM_000545.8	NP_000536.6:p.(Gln541Ter)	NC_000012.11:g.121437190C>T	(Likely) pathogenic	1 lab	623b9632bf
16:2156408 PKD1 C>T	16	2156408	2156408	C	T	PKD1	c.7480G>A	NM_001009944.3	NP_001009944.3:p.(Glu2494Lys)	NC_000016.9:g.2156408C>T	(Likely) benign	1 lab	623c900d1c
12:42491335 GXYLT1 T>C	12	42491335	42491335	T	C	GXYLT1	c.1070A>G	NM_173601.2	NP_775872.1:p.(Glu357Gly)	NC_000012.11:g.42491335T>C	VUS	1 lab	623f09ddd8
10:70206051 DNA2 A>C	10	70206051	70206051	A	C	DNA2	c.1057+2T>G	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70206051A>C	(Likely) benign	1 lab	6240c34bed
19:50333119 MED25 C>T	19	50333119	50333119	C	T	MED25	c.602C>T	NM_030973.4	NP_112235.2:p.(Pro201Leu)	NC_000019.9:g.50333119C>T	VUS	1 lab	63830fa598
7:98782543 KPNA7 G>A	7	98782543	98782543	G	A	KPNA7	c.1134+9C>T	NM_001145715.3	NP_001139187.1:p.?	NC_000007.13:g.98782543G>A	(Likely) benign	1 lab	6243aed323
3:136045691 PCCB A>C	3	136045691	136045691	A	C	PCCB	c.1137A>C	NM_000532.5	NP_000523.2:p.(Arg379Ser)	NC_000003.11:g.136045691A>C	VUS	1 lab	2281c99ef9
22:51133302 SHANK3 T>A	22	51133302	51133302	T	A	SHANK3	c.1355T>A	NM_001372044.2	NP_001358973.1:p.(Ile452Asn)	NC_000022.10:g.51133302T>A	VUS	1 lab	624662fa05
12:7362839 PEX5 G>C	12	7362839	7362839	G	C	PEX5	c.*20G>C	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7362839G>C	VUS	1 lab	6248575ec3
10:50818874 SLC18A3 C>A	10	50818874	50818874	C	A	SLC18A3	c.88C>A	NM_003055.3	NP_003046.2:p.(Arg30=)	NC_000010.10:g.50818874C>A	(Likely) benign	1 lab	6249253fd4
8:139675948 COL22A1 C>T	8	139675948	139675948	C	T	COL22A1	c.3186G>A	NM_152888.3	NP_690848.1:p.(Pro1062=)	NC_000008.10:g.139675948C>T	VUS	1 lab	6249f71b81
19:11144883 SMARCA4 G>A	19	11144883	11144883	G	A	SMARCA4	c.3951+7G>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11144883G>A	(Likely) benign	1 lab	624a14ae2a
3:184076781 CLCN2 G>A	3	184076781	184076781	G	A	CLCN2	c.202C>T	NM_004366.6	NP_004357.3:p.(Arg68Cys)	NC_000003.11:g.184076781G>A	VUS	1 lab	218a6921ed
8:145004426 PLEC G>A	8	145004426	145004426	G	A	PLEC	c.2498C>T	NM_201384.3	NP_958786.1:p.(Pro833Leu)	NC_000008.10:g.145004426G>A	(Likely) benign	1 lab	624f52df5a
4:6304031 WFS1 T>TG	4	6304031	6304033	T	TG	WFS1	c.2511dup	NM_006005.3	NP_005996.2:p.(Pro838AlafsTer102)	NC_000004.11:g.6304033dup	(Likely) pathogenic	1 lab	624f8d147b
5:137680808 FAM53C C>T	5	137680808	137680808	C	T	FAM53C	c.431C>T	NM_016605.3	NP_057689.1:p.(Pro144Leu)	NC_000005.9:g.137680808C>T	VUS	1 lab	62502e610c
19:1456939 APC2 C>T	19	1456939	1456939	C	T	APC2	c.904C>T	NM_005883.3	NP_005874.1:p.(Pro302Ser)	NC_000019.9:g.1456939C>T	VUS	1 lab	6250896696
X:74332808 ABCB7 C>G	X	74332808	74332808	C	G	ABCB7	c.247-1G>C	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74332808C>G	VUS	1 lab	6250cf325f
X:153207399 RENBP T>C	X	153207399	153207399	T	C	RENBP	c.769+4A>G	NM_002910.6	NP_002901.2:p.?	NC_000023.10:g.153207399T>C	(Likely) benign	1 lab	6250dc7523
17:44847363 WNT3 A>T	17	44847363	44847363	A	T	WNT3	c.374T>A	NM_030753.5	NP_110380.1:p.(Phe125Tyr)	NC_000017.10:g.44847363A>T	(Likely) benign	1 lab	6251a28fe2
17:39254113 KRTAP4-8 C>A	17	39254113	39254113	C	A	KRTAP4-8	c.224G>T	NM_031960.3	NP_114166.1:p.(Cys75Phe)	NC_000017.10:g.39254113C>A	(Likely) benign	1 lab	62529fb77f
5:140789686 PCDHGB4 C>T	5	140789686	140789686	C	T	PCDHGB4	c.2397+19838C>T	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140789686C>T	VUS	1 lab	6252d30c25
1:23405596 KDM1A G>A	1	23405596	23405596	G	A	KDM1A	c.1981G>A	NM_001009999.3	NP_001009999.1:p.(Val661Ile)	NC_000001.10:g.23405596G>A	(Likely) benign	1 lab	62543a9d97
2:182543313 NEUROD1 G>A	2	182543313	182543313	G	A	NEUROD1	c.275C>T	NM_002500.5	NP_002491.3:p.(Thr92Ile)	NC_000002.11:g.182543313G>A	(Likely) pathogenic	1 lab	6257fc2540
X:18626961 CDKL5 G>A	X	18626961	18626961	G	A	CDKL5	c.1975G>A	NM_001323289.2	NP_001310218.1:p.(Val659Met)	NC_000023.10:g.18626961G>A	(Likely) benign	1 lab	62585d04d6
2:47221658 TTC7A G>A	2	47221658	47221658	G	A	TTC7A	c.1001+5G>A	NM_020458.4	NP_065191.2:p.?	NC_000002.11:g.47221658G>A	VUS	1 lab	6258f383a7
10:127548214 DHX32 C>T	10	127548214	127548214	C	T	DHX32	c.807G>A	NM_018180.3	NP_060650.2:p.(Ser269=)	NC_000010.10:g.127548214C>T	(Likely) benign	1 lab	62592d4ecf
1:168059889 GPR161 G>A	1	168059889	168059889	G	A	GPR161	c.1117C>T	NM_001375883.1	NP_001362812.1:p.(His373Tyr)	NC_000001.10:g.168059889G>A	VUS	1 lab	6259509006
12:88486495 CEP290 C>CT	12	88486495	88486496	C	CT	CEP290	c.3423dup	NM_025114.4	NP_079390.3:p.(Glu1142ArgfsTer4)	NC_000012.11:g.88486496dup	(Likely) pathogenic	1 lab	625cd81c5b
3:184075017 CLCN2 G>C	3	184075017	184075017	G	C	CLCN2	c.936C>G	NM_004366.6	NP_004357.3:p.(Leu312=)	NC_000003.11:g.184075017G>C	(Likely) benign	1 lab	625d9f18e4
12:102811752 IGF1 C>T	12	102811752	102811752	C	T	IGF1	c.402+1535G>A	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102811752C>T	(Likely) benign	1 lab	625dc98d98
19:18896364 COMP G>T	19	18896364	18896364	G	T	COMP	c.1669-8C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896364G>T	(Likely) benign	1 lab	626076b5cb
20:45022735 ELMO2 G>C	20	45022735	45022735	G	C	ELMO2	c.79-7C>G	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45022735G>C	(Likely) benign	1 lab	62609c5b1a
1:168054856 GPR161 GC>G	1	168054856	168054861	GC	G	GPR161	c.1502del	NM_001375883.1	NP_001362812.1:p.(Gly501AlafsTer9)	NC_000001.10:g.168054861del	VUS	1 lab	6262c0dd1c
13:20635274 ZMYM2 G>A	13	20635274	20635274	G	A	ZMYM2	c.2821G>A	NM_197968.4	NP_932072.1:p.(Val941Ile)	NC_000013.10:g.20635274G>A	(Likely) benign	1 lab	626305c92a
19:36333455 NPHS1 G>A	19	36333455	36333455	G	A	NPHS1	c.2335-3C>T	NM_004646.4	NP_004637.1:p.?	NC_000019.9:g.36333455G>A	(Likely) benign	1 lab	6266938380
4:9251554 USP17L18 A>T	4	9251554	9251554	A	T	USP17L18	c.1199A>T	NM_001256859.1	NP_001243788.1:p.(Asp400Val)	NC_000004.11:g.9251554A>T	VUS	1 lab	6266f2b03a
14:24710264 TINF2 C>T	14	24710264	24710264	C	T	TINF2	c.566G>A	NM_001099274.3	NP_001092744.1:p.(Trp189Ter)	NC_000014.8:g.24710264C>T	VUS	1 lab	6267232442
3:105464766 CBLB G>A	3	105464766	105464766	G	A	CBLB	c.840C>T	NM_170662.5	NP_733762.2:p.(Pro280=)	NC_000003.11:g.105464766G>A	(Likely) benign	1 lab	62676be32a
9:3288165 RFX3 C>A	9	3288165	3288165	C	A	RFX3	c.817G>T	NM_001282116.2	NP_001269045.1:p.(Ala273Ser)	NC_000009.11:g.3288165C>A	VUS	1 lab	6268ecceb2
20:36627603 TTI1 A>C	20	36627603	36627603	A	C	TTI1	c.2780T>G	NM_014657.3	NP_055472.1:p.(Leu927Arg)	NC_000020.10:g.36627603A>C	VUS	1 lab	218b0548a1
17:78298926 RNF213 G>A	17	78298926	78298926	G	A	RNF213	c.3121G>A	NM_001256071.3	NP_001243000.2:p.(Ala1041Thr)	NC_000017.10:g.78298926G>A	(Likely) benign	1 lab	62695a8b30
14:75515492 MLH3 T>C	14	75515492	75515492	T	C	MLH3	c.867A>G	NM_001040108.2	NP_001035197.1:p.(Gln289=)	NC_000014.8:g.75515492T>C	VUS	1 lab	626ca13b02
4:3444477 HGFAC G>C	4	3444477	3444477	G	C	HGFAC	c.136G>C	NM_001528.4	NP_001519.1:p.(Glu46Gln)	NC_000004.11:g.3444477G>C	(Likely) benign	1 lab	626d3d4b11
17:4883726 CAMTA2 G>GGAGGAAGAA	17	4883726	4883746	G	GGAGGAAGAA	CAMTA2	c.882_890dup	NM_015099.4	NP_055914.2:p.(Ser297_Ser299dup)	NC_000017.10:g.4883738_4883746dup	VUS	1 lab	626f1bda68
10:127500806 UROS A>G	10	127500806	127500806	A	G	UROS	c.296T>C	NM_000375.3	NP_000366.1:p.(Val99Ala)	NC_000010.10:g.127500806A>G	(Likely) pathogenic	1 lab	626f51b912
19:55677146 DNAAF3 G>C	19	55677146	55677146	G	C	DNAAF3	c.228+80C>G	NM_001256715.2	NP_001243644.1:p.?	NC_000019.9:g.55677146G>C	(Likely) benign	1 lab	62706620ba
12:112601928 HECTD4 C>T	12	112601928	112601928	C	T	HECTD4	c.12686G>A	NM_001388303.1	NP_001375232.1:p.(Arg4229Gln)	NC_000012.11:g.112601928C>T	VUS	1 lab	6272e06112
17:41738572 MEOX1 C>T	17	41738572	41738572	C	T	MEOX1	c.331G>A	NM_004527.4	NP_004518.1:p.(Gly111Arg)	NC_000017.10:g.41738572C>T	VUS	1 lab	6272fa2e00
2:217280071 SMARCAL1 C>T	2	217280071	217280071	C	T	SMARCAL1	c.644C>T	NM_014140.4	NP_054859.2:p.(Thr215Met)	NC_000002.11:g.217280071C>T	(Likely) benign	1 lab	627551bd4d
4:520908 PIGG C>T	4	520908	520908	C	T	PIGG	c.2150C>T	NM_001127178.3	NP_001120650.1:p.(Ser717Phe)	NC_000004.11:g.520908C>T	VUS	1 lab	627723c82e
1:243778451 AKT3 G>A	1	243778451	243778451	G	A	AKT3	c.574C>T	NM_005465.7	NP_005456.1:p.(His192Tyr)	NC_000001.10:g.243778451G>A	(Likely) pathogenic	1 lab	62789403fe
5:151239517 GLRA1 G>A	5	151239517	151239517	G	A	GLRA1	c.305C>T	NM_000171.4	NP_000162.2:p.(Ala102Val)	NC_000005.9:g.151239517G>A	VUS	1 lab	6278dd050e
1:152277406 FLG G>C	1	152277406	152277406	G	C	FLG	c.9956C>G	NM_002016.2	NP_002007.1:p.(Pro3319Arg)	NC_000001.10:g.152277406G>C	(Likely) benign	1 lab	6279c4fc97
1:180843077 XPR1 C>T	1	180843077	180843077	C	T	XPR1	c.1807C>T	NM_004736.4	NP_004727.2:p.(Arg603Trp)	NC_000001.10:g.180843077C>T	VUS	1 lab	627a709cfc
14:21876584 CHD8 T>C	14	21876584	21876584	T	C	CHD8	c.2617A>G	NM_001170629.2	NP_001164100.1:p.(Asn873Asp)	NC_000014.8:g.21876584T>C	VUS	1 lab	627c4ecaee
17:71419527 SDK2 T>C	17	71419527	71419527	T	C	SDK2	c.1895A>G	NM_001144952.2	NP_001138424.1:p.(Asn632Ser)	NC_000017.10:g.71419527T>C	VUS	1 lab	628de6172a
17:47210434 B4GALNT2 C>T	17	47210434	47210434	C	T	B4GALNT2	c.14+266C>T	NM_001159387.2	NP_001152859.1:p.?	NC_000017.10:g.47210434C>T	(Likely) benign	1 lab	627d3b7ad4
17:8792166 PIK3R5 TGGAGTA>T	17	8792166	8792173	TGGAGTA	T	PIK3R5	c.932_937del	NM_001142633.3	NP_001136105.1:p.(Leu311_Leu312del)	NC_000017.10:g.8792168_8792173del	VUS	1 lab	627f78093e
11:71155212 DHCR7 C>T	11	71155212	71155212	C	T	DHCR7	c.148G>A	NM_001360.3	NP_001351.2:p.(Ala50Thr)	NC_000011.9:g.71155212C>T	VUS	1 lab	6436a19dc2
22:31330937 MORC2 C>T	22	31330937	31330937	C	T	MORC2	c.2024G>A	NM_001303256.3	NP_001290185.1:p.(Arg675Gln)	NC_000022.10:g.31330937C>T	(Likely) benign	1 lab	6280fb6e57
3:13670402 FBLN2 C>T	3	13670402	13670402	C	T	FBLN2	c.2570-3C>T	NM_001004019.2	NP_001004019.1:p.?	NC_000003.11:g.13670402C>T	(Likely) benign	1 lab	62832e6575
17:71199822 COG1 C>G	17	71199822	71199822	C	G	COG1	c.2272C>G	NM_018714.3	NP_061184.1:p.(Arg758Gly)	NC_000017.10:g.71199822C>G	(Likely) benign	1 lab	6283377655
2:223158461 PAX3 G>A	2	223158461	223158461	G	A	PAX3	c.586+425C>T	NM_181458.4	NP_852123.1:p.?	NC_000002.11:g.223158461G>A	VUS	1 lab	6283977a18
2:36744584 CRIM1 C>T	2	36744584	36744584	C	T	CRIM1	c.2105C>T	NM_016441.3	NP_057525.1:p.(Thr702Ile)	NC_000002.11:g.36744584C>T	VUS	1 lab	6284ec76ec
13:77743851 MYCBP2 T>TA	13	77743851	77743858	T	TA	MYCBP2	c.5795-3dup	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77743858dup	(Likely) benign	1 lab	6285c4c4ed
7:155595706 SHH G>A	7	155595706	155595706	G	A	SHH	c.1277C>T	NM_000193.4	NP_000184.1:p.(Ala426Val)	NC_000007.13:g.155595706G>A	VUS	1 lab	6287ad27d5
19:40384766 FCGBP C>T	19	40384766	40384766	C	T	FCGBP	c.9238G>A	NM_003890.3	NP_003881.2:p.(Gly3080Arg)	NC_000019.9:g.40384766C>T	(Likely) benign	1 lab	6288273201
2:69472409 ANTXR1 C>CA	2	69472409	69472410	C	CA	ANTXR1	c.1488dup	NM_032208.3	NP_115584.1:p.(Leu497ThrfsTer86)	NC_000002.11:g.69472410dup	(Likely) pathogenic	1 lab	628875d9bf
1:156844372 NTRK1 G>A	1	156844372	156844372	G	A	NTRK1	c.1205G>A	NM_002529.4	NP_002520.2:p.(Ser402Asn)	NC_000001.10:g.156844372G>A	VUS	1 lab	628b2dda8f
12:49432470 KMT2D G>C	12	49432470	49432470	G	C	KMT2D	c.8669C>G	NM_003482.4	NP_003473.3:p.(Pro2890Arg)	NC_000012.11:g.49432470G>C	VUS	1 lab	628db393e4
15:84694030 ADAMTSL3 G>A	15	84694030	84694030	G	A	ADAMTSL3	c.4498G>A	NM_207517.3	NP_997400.2:p.(Gly1500Ser)	NC_000015.9:g.84694030G>A	VUS	1 lab	628f1e7c5f
4:128632210 INTU T>C	4	128632210	128632210	T	C	INTU	c.2512T>C	NM_015693.4	NP_056508.2:p.(Cys838Arg)	NC_000004.11:g.128632210T>C	VUS	1 lab	628f728f2f
X:83128600 CYLC1 G>A	X	83128600	83128600	G	A	CYLC1	c.884G>A	NM_021118.3	NP_066941.1:p.(Ser295Asn)	NC_000023.10:g.83128600G>A	(Likely) benign	1 lab	62a756f3a6
16:57250015 RSPRY1 TCAGAAG>T	16	57250015	57250021	TCAGAAG	T	RSPRY1	c.703-3_705del	NM_133368.3	NP_588609.1:p.?	NC_000016.9:g.57250016_57250021del	(Likely) benign	1 lab	628ff7537d
4:88537170 DSPP A>G	4	88537170	88537170	A	G	DSPP	c.3356A>G	NM_014208.3	NP_055023.2:p.(Asp1119Gly)	NC_000004.11:g.88537170A>G	(Likely) benign	1 lab	6291a0d45f
X:151869905 MAGEA3 A>G	X	151869905	151869905	A	G	MAGEA3	c.595=	NM_005362.4	NP_005353.1:p.(Ala199=)	NC_000023.10:g.151869905A>G	(Likely) benign	1 lab	62921b2e17
X:153049576 SRPK3 G>C	X	153049576	153049576	G	C	SRPK3	c.1055G>C	NM_014370.4	NP_055185.2:p.(Gly352Ala)	NC_000023.10:g.153049576G>C	(Likely) benign	1 lab	629cc036a1
18:21047444 RIOK3 A>ATTAG	18	21047444	21047449	A	ATTAG	RIOK3	c.771_774dup	NM_003831.5	NP_003822.2:p.(Thr259Ter)	NC_000018.9:g.21047446_21047449dup	VUS	1 lab	62928d1571
1:11316093 MTOR T>C	1	11316093	11316093	T	C	MTOR	c.661A>G	NM_004958.4	NP_004949.1:p.(Thr221Ala)	NC_000001.10:g.11316093T>C	VUS	1 lab	6293b3b209
19:50285851 AP2A1 G>A	19	50285851	50285851	G	A	AP2A1	c.343G>A	NM_130787.3	NP_570603.2:p.(Ala115Thr)	NC_000019.9:g.50285851G>A	VUS	1 lab	629400b283
3:142212134 ATR A>G	3	142212134	142212134	A	G	ATR	c.5918T>C	NM_001184.4	NP_001175.2:p.(Leu1973Pro)	NC_000003.11:g.142212134A>G	VUS	1 lab	629448e4be
3:58148895 FLNB C>T	3	58148895	58148895	C	T	FLNB	c.7036C>T	NM_001457.4	NP_001448.2:p.(Arg2346Cys)	NC_000003.11:g.58148895C>T	VUS	1 lab	6294b76107
4:174450428 HAND2 C>T	4	174450428	174450428	C	T	HAND2	c.13G>A	NM_021973.3	NP_068808.1:p.(Gly5Ser)	NC_000004.11:g.174450428C>T	VUS	1 lab	2286462756
7:1526298 INTS1 C>G	7	1526298	1526298	C	G	INTS1	c.2939G>C	NM_001080453.3	NP_001073922.2:p.(Gly980Ala)	NC_000007.13:g.1526298C>G	VUS	1 lab	6295b672fd
1:151377425 POGZ T>G	1	151377425	151377425	T	G	POGZ	c.4086A>C	NM_015100.4	NP_055915.2:p.(Glu1362Asp)	NC_000001.10:g.151377425T>G	(Likely) benign	1 lab	629630995b
15:65369587 KBTBD13 C>G	15	65369587	65369587	C	G	KBTBD13	c.434C>G	NM_001101362.3	NP_001094832.1:p.(Ala145Gly)	NC_000015.9:g.65369587C>G	VUS	1 lab	629665e063
19:3613371 CACTIN G>A	19	3613371	3613371	G	A	CACTIN	c.1479-8C>T	NM_001080543.2	NP_001074012.1:p.?	NC_000019.9:g.3613371G>A	VUS	1 lab	6296944672
2:8870924 KIDINS220 C>A	2	8870924	8870924	C	A	KIDINS220	c.5242G>T	NM_020738.4	NP_065789.1:p.(Asp1748Tyr)	NC_000002.11:g.8870924C>A	VUS	1 lab	629a32434d
2:212615424 ERBB4 G>A	2	212615424	212615424	G	A	ERBB4	c.562C>T	NM_005235.3	NP_005226.1:p.(Arg188Cys)	NC_000002.11:g.212615424G>A	VUS	1 lab	629a91a325
12:122248118 SETD1B C>T	12	122248118	122248118	C	T	SETD1B	c.1267C>T	NM_001353345.2	NP_001340274.1:p.(Arg423Cys)	NC_000012.11:g.122248118C>T	(Likely) benign	1 lab	629aaad099
10:70182093 DNA2 G>C	10	70182093	70182093	G	C	DNA2	c.2586C>G	NM_001080449.3	NP_001073918.2:p.(His862Gln)	NC_000010.10:g.70182093G>C	(Likely) benign	1 lab	629add2e3e
1:185959505 HMCN1 G>A	1	185959505	185959505	G	A	HMCN1	c.3307G>A	NM_031935.3	NP_114141.2:p.(Val1103Met)	NC_000001.10:g.185959505G>A	(Likely) benign	1 lab	629df120fc
14:74754951 ABCD4 C>T	14	74754951	74754951	C	T	ABCD4	c.1518G>A	NM_005050.4	NP_005041.1:p.(Val506=)	NC_000014.8:g.74754951C>T	VUS	1 lab	629f72a351
15:28947652 GOLGA8M C>A	15	28947652	28947652	C	A	GOLGA8M	c.1526G>T	NM_001282468.3	NP_001269397.1:p.(Gly509Val)	NC_000015.9:g.28947652C>A	(Likely) benign	1 lab	629fd9d99c
6:87968320 ZNF292 T>C	6	87968320	87968320	T	C	ZNF292	c.4973T>C	NM_015021.3	NP_055836.1:p.(Ile1658Thr)	NC_000006.11:g.87968320T>C	(Likely) benign	1 lab	629fe0ddbf
17:48265329 COL1A1 G>A	17	48265329	48265329	G	A	COL1A1	c.3277C>T	NM_000088.4	NP_000079.2:p.(Arg1093Cys)	NC_000017.10:g.48265329G>A	VUS	1 lab	62a0dd5f74
6:45514650 RUNX2 A>T	6	45514650	45514650	A	T	RUNX2	c.1174A>T	NM_001024630.4	NP_001019801.3:p.(Met392Leu)	NC_000006.11:g.45514650A>T	VUS	1 lab	62a199c253
1:46660014 POMGNT1 T>C	1	46660014	46660014	T	C	POMGNT1	c.811A>G	NM_017739.4	NP_060209.4:p.(Lys271Glu)	NC_000001.10:g.46660014T>C	VUS	1 lab	62a1d9f64f
4:3076620 HTT AGC>A	4	3076620	3076622	AGC	A	HTT	c.69_70del	NM_001388492.1	NP_001375421.1:p.(Gln24AlafsTer58)	NC_000004.11:g.3076621_3076622del	(Likely) benign	1 lab	62a2adfbe7
11:61081819 DDB1 T>C	11	61081819	61081819	T	C	DDB1	c.1550A>G	NM_001923.5	NP_001914.3:p.(Tyr517Cys)	NC_000011.9:g.61081819T>C	(Likely) benign	1 lab	62a3318c19
3:105421032 CBLB C>G	3	105421032	105421032	C	G	CBLB	c.1865G>C	NM_170662.5	NP_733762.2:p.(Ser622Thr)	NC_000003.11:g.105421032C>G	(Likely) benign	1 lab	62a389808a
3:119013770 ARHGAP31 A>G	3	119013770	119013770	A	G	ARHGAP31	c.19A>G	NM_020754.4	NP_065805.2:p.(Lys7Glu)	NC_000003.11:g.119013770A>G	(Likely) benign	1 lab	62a55e762c
12:21926459 KCNJ8 A>C	12	21926459	21926459	A	C	KCNJ8	c.92T>G	NM_004982.4	NP_004973.1:p.(Leu31Arg)	NC_000012.11:g.21926459A>C	VUS	1 lab	62c23315e0
17:8048287 PER1 G>A	17	8048287	8048287	G	A	PER1	c.2243C>T	NM_002616.3	NP_002607.2:p.(Pro748Leu)	NC_000017.10:g.8048287G>A	VUS	1 lab	62b6cbc659
2:109380273 RANBP2 T>C	2	109380273	109380273	T	C	RANBP2	c.3278T>C	NM_006267.5	NP_006258.3:p.(Ile1093Thr)	NC_000002.11:g.109380273T>C	(Likely) benign	1 lab	62a75ca071
20:31380424 DNMT3B C>T	20	31380424	31380424	C	T	DNMT3B	c.922-8C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31380424C>T	VUS	1 lab	62a799d9c2
12:51080364 DIP2B C>T	12	51080364	51080364	C	T	DIP2B	c.1450C>T	NM_173602.3	NP_775873.2:p.(Arg484Trp)	NC_000012.11:g.51080364C>T	(Likely) benign	1 lab	62a86ba445
7:151856127 KMT2C A>T	7	151856127	151856127	A	T	KMT2C	c.11491T>A	NM_170606.3	NP_733751.2:p.(Phe3831Ile)	NC_000007.13:g.151856127A>T	VUS	1 lab	62a9c0aa56
6:45512996 RUNX2 C>T	6	45512996	45512996	C	T	RUNX2	c.1064C>T	NM_001024630.4	NP_001019801.3:p.(Thr355Ile)	NC_000006.11:g.45512996C>T	(Likely) benign	1 lab	62ab11fe0d
1:64125281 PGM1 A>T	1	64125281	64125281	A	T	PGM1	c.1624A>T	NM_002633.3	NP_002624.2:p.(Ile542Phe)	NC_000001.10:g.64125281A>T	VUS	1 lab	62ac5a3a53
11:6413182 SMPD1 G>A	11	6413182	6413182	G	A	SMPD1	c.887G>A	NM_000543.5	NP_000534.3:p.(Arg296Gln)	NC_000011.9:g.6413182G>A	(Likely) benign	1 lab	62acc80353
11:6412869 SMPD1 A>C	11	6412869	6412869	A	C	SMPD1	c.574A>C	NM_000543.5	NP_000534.3:p.(Ser192Arg)	NC_000011.9:g.6412869A>C	(Likely) benign	1 lab	62ad47e7af
9:134381496 POMT1 T>TC	9	134381496	134381497	T	TC	POMT1	c.123-4dup	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134381497dup	(Likely) benign	1 lab	228769fde8
13:32906660 BRCA2 A>G	13	32906660	32906660	A	G	BRCA2	c.1045A>G	NM_000059.4	NP_000050.3:p.(Lys349Glu)	NC_000013.10:g.32906660A>G	VUS	1 lab	62b23b07b3
X:118603855 SLC25A5 G>A	X	118603855	118603855	G	A	SLC25A5	c.343G>A	NM_001152.5	NP_001143.2:p.(Gly115Arg)	NC_000023.10:g.118603855G>A	VUS	1 lab	62b3e63908
12:6690339 CHD4 A>G	12	6690339	6690339	A	G	CHD4	c.4780T>C	NM_001273.5	NP_001264.2:p.(Cys1594Arg)	NC_000012.11:g.6690339A>G	VUS	1 lab	62c2454296
12:52845467 KRT6B AG>A	12	52845467	52845473	AG	A	KRT6B	c.395del	NM_005555.4	NP_005546.2:p.(Pro132LeufsTer14)	NC_000012.11:g.52845473del	VUS	1 lab	62b3fda091
11:68191023 LRP5 G>A	11	68191023	68191023	G	A	LRP5	c.3094G>A	NM_002335.4	NP_002326.2:p.(Asp1032Asn)	NC_000011.9:g.68191023G>A	VUS	1 lab	62b50e9c6c
12:12318172 LRP6 T>C	12	12318172	12318172	T	C	LRP6	c.1603A>G	NM_002336.3	NP_002327.2:p.(Ile535Val)	NC_000012.11:g.12318172T>C	VUS	1 lab	62b5b91553
12:122263102 SETD1B C>G	12	122263102	122263102	C	G	SETD1B	c.5171-4C>G	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122263102C>G	(Likely) benign	1 lab	62b8a24e22
12:46160701 ARID2 A>C	12	46160701	46160701	A	C	ARID2	c.284+35604A>C	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46160701A>C	(Likely) benign	1 lab	62b8df38b2
1:155582061 MSTO1 G>A	1	155582061	155582061	G	A	MSTO1	c.767G>A	NM_018116.4	NP_060586.2:p.(Arg256Gln)	NC_000001.10:g.155582061G>A	VUS	1 lab	62b9ed26d9
1:8424129 RERE C>T	1	8424129	8424129	C	T	RERE	c.1727G>A	NM_001042681.2	NP_001036146.1:p.(Arg576Gln)	NC_000001.10:g.8424129C>T	VUS	1 lab	62bc3937ea
13:110857746 COL4A1 G>A	13	110857746	110857746	G	A	COL4A1	c.911C>T	NM_001845.6	NP_001836.3:p.(Pro304Leu)	NC_000013.10:g.110857746G>A	VUS	1 lab	62bc88bcc6
4:191003237 MISSING C>T	4	191003237	191003237	C	T	MISSING				NC_000004.11:g.191003237C>T	(Likely) benign	1 lab	62bd09af93
17:40828575 PLEKHH3 G>A	17	40828575	40828575	G	A	PLEKHH3	c.7C>T	NM_024927.5	NP_079203.4:p.(Leu3Phe)	NC_000017.10:g.40828575G>A	(Likely) benign	1 lab	62bea7197e
1:202711904 KDM5B CTT>C	1	202711904	202711906	CTT	C	KDM5B	c.2351_2352del	NM_006618.5	NP_006609.3:p.(Glu784GlyfsTer3)	NC_000001.10:g.202711905_202711906del	VUS	1 lab	62beb37d94
1:184792402 NIBAN1 T>C	1	184792402	184792402	T	C	NIBAN1	c.884A>G	NM_052966.4	NP_443198.1:p.(Lys295Arg)	NC_000001.10:g.184792402T>C	VUS	1 lab	62c1e9b855
3:25674279 TOP2B G>A	3	25674279	25674279	G	A	TOP2B	c.1033C>T	NM_001330700.2	NP_001317629.1:p.(Arg345Trp)	NC_000003.11:g.25674279G>A	(Likely) benign	1 lab	62c94a6761
20:30822366 POFUT1 T>G	20	30822366	30822366	T	G	POFUT1	c.1069T>G	NM_015352.2	NP_056167.1:p.(Ser357Ala)	NC_000020.10:g.30822366T>G	VUS	1 lab	62c96e0dbc
1:9777122 PIK3CD G>A	1	9777122	9777122	G	A	PIK3CD	c.886G>A	NM_005026.5	NP_005017.3:p.(Val296Ile)	NC_000001.10:g.9777122G>A	(Likely) benign	1 lab	62c9b2de18
5:149506141 PDGFRB A>G	5	149506141	149506141	A	G	PDGFRB	c.1616T>C	NM_002609.4	NP_002600.1:p.(Leu539Pro)	NC_000005.9:g.149506141A>G	VUS	1 lab	62ca577f6e
2:241712554 KIF1A T>C	2	241712554	241712554	T	C	KIF1A	c.1157A>G	NM_001244008.2	NP_001230937.1:p.(Gln386Arg)	NC_000002.11:g.241712554T>C	VUS	1 lab	62cbdbc243
16:88798129 PIEZO1 G>C	16	88798129	88798129	G	C	PIEZO1	c.3181C>G	NM_001142864.4	NP_001136336.2:p.(Pro1061Ala)	NC_000016.9:g.88798129G>C	VUS	1 lab	218f9d426b
X:107938630 COL4A5 G>C	X	107938630	107938630	G	C	COL4A5	c.4955G>C	NM_033380.3	NP_203699.1:p.(Ser1652Thr)	NC_000023.10:g.107938630G>C	VUS	1 lab	62cff65464
15:77317965 PSTPIP1 C>T	15	77317965	77317965	C	T	PSTPIP1	c.354+20C>T	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77317965C>T	(Likely) benign	1 lab	228dda413a
11:125765968 HYLS1 T>C	11	125765968	125765968	T	C	HYLS1	c.-25-3271T>C	NM_001134793.2	NP_001128265.1:p.?	NC_000011.9:g.125765968T>C	(Likely) pathogenic	1 lab	62d1f9d5bb
5:140306559 PCDHAC1 G>T	5	140306559	140306559	G	T	PCDHAC1	c.82G>T	NM_018898.5	NP_061721.2:p.(Glu28Ter)	NC_000005.9:g.140306559G>T	(Likely) benign	1 lab	62d3792bd6
9:117054490 COL27A1 G>A	9	117054490	117054490	G	A	COL27A1	c.4584G>A	NM_032888.4	NP_116277.2:p.(Pro1528=)	NC_000009.11:g.117054490G>A	VUS	1 lab	62d3d3fb0b
14:23862692 MYH6 A>C	14	23862692	23862692	A	C	MYH6	c.2964T>G	NM_002471.4	NP_002462.2:p.(Asp988Glu)	NC_000014.8:g.23862692A>C	VUS	1 lab	62d4e3239f
4:17600109 LAP3 A>G	4	17600109	17600109	A	G	LAP3	c.1108A>G	NM_015907.3	NP_056991.2:p.(Ile370Val)	NC_000004.11:g.17600109A>G	VUS	1 lab	62d624d84c
7:4821300 AP5Z1 C>G	7	4821300	4821300	C	G	AP5Z1	c.281C>G	NM_014855.3	NP_055670.1:p.(Ser94Cys)	NC_000007.13:g.4821300C>G	(Likely) benign	1 lab	62d6656735
14:105242139 AKT1 G>A	14	105242139	105242139	G	A	AKT1	c.288-3C>T	NM_001382430.1	NP_001369359.1:p.?	NC_000014.8:g.105242139G>A	(Likely) benign	1 lab	62d99c115f
16:67661574 CTCF G>A	16	67661574	67661574	G	A	CTCF	c.1519-699G>A	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67661574G>A	(Likely) benign	1 lab	62da994dbe
7:6029481 PMS2 C>A	7	6029481	6029481	C	A	PMS2	c.1094G>T	NM_000535.7	NP_000526.2:p.(Ser365Ile)	NC_000007.13:g.6029481C>A	VUS	1 lab	219305abcc
3:149563829 RNF13 G>C	3	149563829	149563829	G	C	RNF13	c.16G>C	NM_183381.3	NP_899237.1:p.(Gly6Arg)	NC_000003.11:g.149563829G>C	(Likely) benign	1 lab	62de087e51
8:77745601 ZFHX4 G>GTGA	8	77745601	77745611	G	GTGA	ZFHX4	c.3361_3363dup	NM_024721.5	NP_078997.4:p.(Asp1121dup)	NC_000008.10:g.77745609_77745611dup	VUS	1 lab	62de6d7ce6
3:4744547 ITPR1 G>A	3	4744547	4744547	G	A	ITPR1	c.4570G>A	NM_001378452.1	NP_001365381.1:p.(Gly1524Ser)	NC_000003.11:g.4744547G>A	VUS	1 lab	62deef050a
11:36296296 COMMD9 TC>T	11	36296296	36296298	TC	T	COMMD9	c.482del	NM_014186.4	NP_054905.2:p.(Gly161GlufsTer13)	NC_000011.9:g.36296298del	VUS	1 lab	62df846059
1:227174299 COQ8A C>A	1	227174299	227174299	C	A	COQ8A	c.1805C>A	NM_020247.5	NP_064632.2:p.(Pro602Gln)	NC_000001.10:g.227174299C>A	(Likely) pathogenic	1 lab	62e05f478d
7:1474287 MICALL2 T>G	7	1474287	1474287	T	G	MICALL2	c.2660A>C	NM_182924.4	NP_891554.1:p.(Lys887Thr)	NC_000007.13:g.1474287T>G	(Likely) benign	1 lab	62e28eaf71
2:219890814 CFAP65 C>T	2	219890814	219890814	C	T	CFAP65	c.2279G>A	NM_194302.4	NP_919278.2:p.(Arg760Gln)	NC_000002.11:g.219890814C>T	(Likely) benign	1 lab	62e2987bd2
5:34954770 DNAJC21 A>G	5	34954770	34954770	A	G	DNAJC21	c.1547A>G	NM_001012339.3	NP_001012339.2:p.(Asn516Ser)	NC_000005.9:g.34954770A>G	(Likely) benign	1 lab	62e2bc7504
X:66789063 AR GTT>G	X	66789063	66789065	GTT	G	AR	c.1616+22460_1616+22461del	NM_000044.6	NP_000035.2:p.?	NC_000023.10:g.66789064_66789065del	(Likely) benign	1 lab	62e51c73b4
11:64419609 NRXN2 G>C	11	64419609	64419609	G	C	NRXN2	c.2434C>G	NM_015080.4	NP_055895.1:p.(Leu812Val)	NC_000011.9:g.64419609G>C	VUS	1 lab	62e526dde8
11:62381768 ROM1 A>T	11	62381768	62381768	A	T	ROM1	c.629A>T	NM_000327.4	NP_000318.2:p.(Asp210Val)	NC_000011.9:g.62381768A>T	VUS	1 lab	62e75b6da1
14:67382715 GPHN T>C	14	67382715	67382715	T	C	GPHN	c.390-5T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67382715T>C	(Likely) benign	1 lab	228fb7711c
19:18530518 SSBP4 G>A	19	18530518	18530518	G	A	SSBP4	c.59+1G>A	NM_032627.5	NP_116016.1:p.?	NC_000019.9:g.18530518G>A	VUS	1 lab	62ea44739a
16:83948970 MLYCD A>G	16	83948970	83948970	A	G	MLYCD	c.1358A>G	NM_012213.3	NP_036345.2:p.(Asn453Ser)	NC_000016.9:g.83948970A>G	VUS	1 lab	62ead71ef6
4:2951669 NOP14 G>C	4	2951669	2951669	G	C	NOP14	c.1274C>G	NM_001291978.2	NP_001278907.1:p.(Thr425Arg)	NC_000004.11:g.2951669G>C	VUS	1 lab	62ebe62a44
15:90213429 PLIN1 G>A	15	90213429	90213429	G	A	PLIN1	c.380C>T	NM_002666.5	NP_002657.3:p.(Ala127Val)	NC_000015.9:g.90213429G>A	VUS	1 lab	62ec4a0f4c
2:166237130 SCN2A A>G	2	166237130	166237130	A	G	SCN2A	c.4337A>G	NM_001040142.2	NP_001035232.1:p.(Asn1446Ser)	NC_000002.11:g.166237130A>G	VUS	1 lab	62ee001a08
10:111882007 ADD3 G>A	10	111882007	111882007	G	A	ADD3	c.1100G>A	NM_016824.5	NP_058432.1:p.(Gly367Asp)	NC_000010.10:g.111882007G>A	VUS	1 lab	62f11b1f69
6:157100092 ARID1B C>CGCGGCGGCGGCGGCAGCAGCAGGAG	6	157100092	157100131	C	CGCGGCGGCGGCGGCAGCAGCAGGAG	ARID1B	c.1293_1317dup	NM_001374828.1	NP_001361757.1:p.(Gly440SerfsTer186)	NC_000006.11:g.157100107_157100131dup	(Likely) pathogenic	1 lab	62f12a79d6
17:12921263 ELAC2 A>G	17	12921263	12921263	A	G	ELAC2	c.2T>C	NM_018127.7	NP_060597.4:p.(Met1?)	NC_000017.10:g.12921263A>G	VUS	1 lab	62f19b8ef5
3:58156370 FLNB G>A	3	58156370	58156370	G	A	FLNB	c.7690G>A	NM_001457.4	NP_001448.2:p.(Val2564Ile)	NC_000003.11:g.58156370G>A	VUS	1 lab	62f1b91a92
6:70926743 COL9A1 C>T	6	70926743	70926743	C	T	COL9A1	c.2623G>A	NM_001851.6	NP_001842.3:p.(Gly875Ser)	NC_000006.11:g.70926743C>T	VUS	1 lab	630a43adc4
1:144618221 NBPF9 C>T	1	144618221	144618221	C	T	NBPF9	c.418C>T	NM_001388367.1	NP_001375296.1:p.(Gln140Ter)	NC_000001.10:g.144618221C>T	(Likely) benign	1 lab	62f60c521d
8:11566351 GATA4 C>T	8	11566351	11566351	C	T	GATA4	c.530C>T	NM_001308093.3	NP_001295022.1:p.(Ala177Val)	NC_000008.10:g.11566351C>T	VUS	1 lab	62f87b56bf
4:88959590 PKD2 G>A	4	88959590	88959590	G	A	PKD2	c.1031G>A	NM_000297.4	NP_000288.1:p.(Cys344Tyr)	NC_000004.11:g.88959590G>A	(Likely) pathogenic	1 lab	62fa8936d7
16:2129290 TSC2 G>A	16	2129290	2129290	G	A	TSC2	c.3145G>A	NM_000548.5	NP_000539.2:p.(Glu1049Lys)	NC_000016.9:g.2129290G>A	VUS	1 lab	62fd333e04
X:129201153 ELF4 G>A	X	129201153	129201153	G	A	ELF4	c.1535C>T	NM_001421.4	NP_001412.1:p.(Pro512Leu)	NC_000023.10:g.129201153G>A	VUS	1 lab	62ff21e50d
14:105412302 AHNAK2 A>C	14	105412302	105412302	A	C	AHNAK2	c.9486T>G	NM_138420.4	NP_612429.2:p.(Ile3162Met)	NC_000014.8:g.105412302A>C	VUS	1 lab	6302eef4a5
9:133759583 ABL1 G>A	9	133759583	133759583	G	A	ABL1	c.1963G>A	NM_007313.2	NP_009297.2:p.(Glu655Lys)	NC_000009.11:g.133759583G>A	(Likely) benign	1 lab	22912cad3f
7:99696224 MCM7 G>A	7	99696224	99696224	G	A	MCM7	c.697C>T	NM_005916.5	NP_005907.3:p.(Gln233Ter)	NC_000007.13:g.99696224G>A	VUS	1 lab	63048f59d6
7:124482968 POT1 C>G	7	124482968	124482968	C	G	POT1	c.1056G>C	NM_015450.3	NP_056265.2:p.(Leu352Phe)	NC_000007.13:g.124482968C>G	VUS	1 lab	63059decc9
12:48380133 COL2A1 G>A	12	48380133	48380133	G	A	COL2A1	c.1513C>T	NM_001844.5	NP_001835.3:p.(Pro505Ser)	NC_000012.11:g.48380133G>A	VUS	1 lab	6305dac73f
16:3076774 THOC6 G>A	16	3076774	3076774	G	A	THOC6	c.578G>A	NM_024339.5	NP_077315.2:p.(Arg193Gln)	NC_000016.9:g.3076774G>A	VUS	1 lab	6305f3b2e0
X:67938228 STARD8 C>T	X	67938228	67938228	C	T	STARD8	c.1472C>T	NM_001142503.3	NP_001135975.1:p.(Pro491Leu)	NC_000023.10:g.67938228C>T	(Likely) benign	1 lab	63094cfda7
10:61833944 ANK3 C>T	10	61833944	61833944	C	T	ANK3	c.6695G>A	NM_020987.5	NP_066267.2:p.(Arg2232Gln)	NC_000010.10:g.61833944C>T	(Likely) benign	1 lab	6309c6e86c
12:115112286 TBX3 T>C	12	115112286	115112286	T	C	TBX3	c.1394A>G	NM_005996.4	NP_005987.3:p.(Gln465Arg)	NC_000012.11:g.115112286T>C	VUS	1 lab	6309e03c60
2:61009813 PAPOLG T>TTTA	2	61009813	61009814	T	TTTA	PAPOLG	c.1028-8_1028-7insTTA	NM_022894.4	NP_075045.2:p.?	NC_000002.11:g.61009813_61009814insTTA	(Likely) benign	1 lab	630bad8589
20:10653429 JAG1 C>G	20	10653429	10653429	C	G	JAG1	c.307G>C	NM_000214.3	NP_000205.1:p.(Gly103Arg)	NC_000020.10:g.10653429C>G	VUS	1 lab	630c774d95
16:89346985 ANKRD11 C>T	16	89346985	89346985	C	T	ANKRD11	c.5965G>A	NM_013275.6	NP_037407.4:p.(Glu1989Lys)	NC_000016.9:g.89346985C>T	VUS	1 lab	630ca6e589
6:87969841 ZNF292 C>T	6	87969841	87969841	C	T	ZNF292	c.6494C>T	NM_015021.3	NP_055836.1:p.(Thr2165Ile)	NC_000006.11:g.87969841C>T	(Likely) benign	1 lab	630e7ab159
2:73115668 SPR G>C	2	73115668	73115668	G	C	SPR	c.530G>C	NM_003124.5	NP_003115.1:p.(Arg177Pro)	NC_000002.11:g.73115668G>C	(Likely) pathogenic	1 lab	630e876462
14:70795926 COX16 TCA>T	14	70795926	70795928	TCA	T	COX16	c.167_168del	NM_016468.7	NP_057552.1:p.(Leu56GlnfsTer4)	NC_000014.8:g.70795927_70795928del	VUS	1 lab	630fd7a1c6
17:56770115 RAD51C A>G	17	56770115	56770115	A	G	RAD51C	c.111A>G	NM_058216.3	NP_478123.1:p.(Glu37=)	NC_000017.10:g.56770115A>G	(Likely) benign	1 lab	6312245778
9:14842490 FREM1 G>A	9	14842490	14842490	G	A	FREM1	c.1562C>T	NM_001379081.2	NP_001366010.1:p.(Pro521Leu)	NC_000009.11:g.14842490G>A	VUS	1 lab	63126e1707
17:48423535 XYLT2 C>T	17	48423535	48423535	C	T	XYLT2	c.34C>T	NM_022167.4	NP_071450.2:p.(Arg12Trp)	NC_000017.10:g.48423535C>T	VUS	1 lab	6312f5653f
9:139402819 NOTCH1 C>T	9	139402819	139402819	C	T	NOTCH1	c.3190G>A	NM_017617.5	NP_060087.3:p.(Asp1064Asn)	NC_000009.11:g.139402819C>T	VUS	1 lab	631304b765
19:36590393 WDR62 G>C	19	36590393	36590393	G	C	WDR62	c.2613G>C	NM_001083961.2	NP_001077430.1:p.(Glu871Asp)	NC_000019.9:g.36590393G>C	VUS	1 lab	6314454aa5
3:41278106 CTNNB1 G>A	3	41278106	41278106	G	A	CTNNB1	c.1982G>A	NM_001904.4	NP_001895.1:p.(Arg661Gln)	NC_000003.11:g.41278106G>A	VUS	1 lab	63159ade5b
2:20113929 WDR35 G>T	2	20113929	20113929	G	T	WDR35	c.3231C>A	NM_020779.4	NP_065830.2:p.(Phe1077Leu)	NC_000002.11:g.20113929G>T	VUS	1 lab	6321ab42a2
19:9868546 ZNF846 AGGCTTTCCCACATTCTTTACATTCATAG>A	19	9868546	9868580	AGGCTTTCCCACATTCTTTACATTCATAG	A	ZNF846	c.1179_1206del	NM_001077624.3	NP_001071092.1:p.(Tyr394LeufsTer11)	NC_000019.9:g.9868553_9868580del	VUS	1 lab	6317834935
19:42797938 CIC G>A	19	42797938	42797938	G	A	CIC	c.6717G>A	NM_001386298.1	NP_001373227.1:p.(Lys2239=)	NC_000019.9:g.42797938G>A	(Likely) benign	1 lab	63187d9b14
14:105240258 AKT1 G>A	14	105240258	105240258	G	A	AKT1	c.693C>T	NM_001382430.1	NP_001369359.1:p.(Asn231=)	NC_000014.8:g.105240258G>A	(Likely) benign	1 lab	63191d6060
1:16260165 SPEN C>T	1	16260165	16260165	C	T	SPEN	c.7430C>T	NM_015001.3	NP_055816.2:p.(Ala2477Val)	NC_000001.10:g.16260165C>T	VUS	1 lab	63195cbe36
14:30100101 PRKD1 C>G	14	30100101	30100101	C	G	PRKD1	c.1519G>C	NM_002742.3	NP_002733.2:p.(Val507Leu)	NC_000014.8:g.30100101C>G	(Likely) benign	1 lab	63195d5136
13:112722862 SOX1 T>TGGC	13	112722862	112722886	T	TGGC	SOX1	c.912_914dup	NM_005986.3	NP_005977.2:p.(Ala306dup)	NC_000013.10:g.112722884_112722886dup	VUS	1 lab	6319b72c26
3:46901034 MYL3 G>A	3	46901034	46901034	G	A	MYL3	c.412C>T	NM_000258.3	NP_000249.1:p.(Arg138Trp)	NC_000003.11:g.46901034G>A	VUS	1 lab	631af0d70d
14:21854170 CHD8 T>C	14	21854170	21854170	T	C	CHD8	c.7348A>G	NM_001170629.2	NP_001164100.1:p.(Ser2450Gly)	NC_000014.8:g.21854170T>C	VUS	1 lab	631b7d3bbd
1:35250785 GJB3 T>TCA	1	35250785	35250786	T	TCA	GJB3	c.422_423insCA	NM_024009.3	NP_076872.1:p.(Glu142MetfsTer127)	NC_000001.10:g.35250785_35250786insCA	VUS	1 lab	631bf32019
12:91396203 EPYC T>G	12	91396203	91396203	T	G	EPYC	c.140A>C	NM_004950.5	NP_004941.2:p.(Glu47Ala)	NC_000012.11:g.91396203T>G	VUS	1 lab	631c11a737
17:8136232 CTC1 C>A	17	8136232	8136232	C	A	CTC1	c.1937G>T	NM_025099.6	NP_079375.3:p.(Arg646Leu)	NC_000017.10:g.8136232C>A	(Likely) benign	1 lab	631dd47e5c
2:234875408 TRPM8 T>C	2	234875408	234875408	T	C	TRPM8	c.2025+9T>C	NM_024080.5	NP_076985.4:p.?	NC_000002.11:g.234875408T>C	(Likely) benign	1 lab	631e304f1f
5:67569229 PIK3R1 C>A	5	67569229	67569229	C	A	PIK3R1	c.346C>A	NM_181523.3	NP_852664.1:p.(Pro116Thr)	NC_000005.9:g.67569229C>A	VUS	1 lab	631e36dfed
1:226549238 PARP1 T>C	1	226549238	226549238	T	C	PARP1	c.2968A>G	NM_001618.4	NP_001609.2:p.(Ile990Val)	NC_000001.10:g.226549238T>C	VUS	1 lab	631e9c92cd
3:196812553 DLG1 A>C	3	196812553	196812553	A	C	DLG1	c.1736T>G	NM_001366207.1	NP_001353136.1:p.(Ile579Ser)	NC_000003.11:g.196812553A>C	VUS	1 lab	6321f0586b
19:10279008 DNMT1 T>C	19	10279008	10279008	T	C	DNMT1	c.801A>G	NM_001130823.3	NP_001124295.1:p.(Glu267=)	NC_000019.9:g.10279008T>C	VUS	1 lab	632248f3f9
1:27877315 AHDC1 G>A	1	27877315	27877315	G	A	AHDC1	c.1312C>T	NM_001371928.1	NP_001358857.1:p.(Pro438Ser)	NC_000001.10:g.27877315G>A	(Likely) benign	1 lab	6322b14dc9
22:45944540 FBLN1 C>T	22	45944540	45944540	C	T	FBLN1	c.1489C>T	NM_006486.3	NP_006477.3:p.(Arg497Cys)	NC_000022.10:g.45944540C>T	VUS	1 lab	63261f4297
X:70672477 TAF1 G>A	X	70672477	70672477	G	A	TAF1	c.4754-1543G>A	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70672477G>A	(Likely) benign	1 lab	6326d35d66
9:139101101 QSOX2 G>A	9	139101101	139101101	G	A	QSOX2	c.1570C>T	NM_181701.4	NP_859052.3:p.(Arg524Trp)	NC_000009.11:g.139101101G>A	(Likely) benign	1 lab	6327373071
2:132021889 POTEE G>A	2	132021889	132021889	G	A	POTEE	c.2861G>A	NM_001083538.3	NP_001077007.1:p.(Arg954Gln)	NC_000002.11:g.132021889G>A	(Likely) benign	1 lab	6328411fa0
5:86564456 RASA1 G>A	5	86564456	86564456	G	A	RASA1	c.188G>A	NM_002890.3	NP_002881.1:p.(Gly63Asp)	NC_000005.9:g.86564456G>A	VUS	1 lab	632845dc53
17:10554891 MYH3 C>T	17	10554891	10554891	C	T	MYH3	c.443G>A	NM_002470.4	NP_002461.2:p.(Arg148His)	NC_000017.10:g.10554891C>T	VUS	1 lab	6328c89cbe
12:53345296 KRT18 G>C	12	53345296	53345296	G	C	KRT18	c.689G>C	NM_000224.3	NP_000215.1:p.(Ser230Thr)	NC_000012.11:g.53345296G>C	(Likely) benign	1 lab	63294edcc1
2:179440462 TTN C>T	2	179440462	179440462	C	T	TTN	c.70397G>A	NM_001267550.2	NP_001254479.2:p.(Arg23466His)	NC_000002.11:g.179440462C>T	VUS	1 lab	6329a3f71f
12:120653458 PXN C>G	12	120653458	120653458	C	G	PXN	c.2308G>C	NM_001385981.1	NP_001372910.1:p.(Gly770Arg)	NC_000012.11:g.120653458C>G	(Likely) benign	1 lab	632a9c4650
22:51159877 SHANK3 C>T	22	51159877	51159877	C	T	SHANK3	c.3841C>T	NM_001372044.2	NP_001358973.1:p.(Pro1281Ser)	NC_000022.10:g.51159877C>T	VUS	1 lab	632aa7c0fd
19:45287654 CBLC G>A	19	45287654	45287654	G	A	CBLC	c.913G>A	NM_012116.4	NP_036248.3:p.(Gly305Ser)	NC_000019.9:g.45287654G>A	VUS	1 lab	632aafb40e
X:103349344 SLC25A53 G>C	X	103349344	103349344	G	C	SLC25A53	c.597C>G	NM_001012755.5	NP_001012773.2:p.(Ile199Met)	NC_000023.10:g.103349344G>C	(Likely) benign	1 lab	632addf88d
2:73650076 ALMS1 A>C	2	73650076	73650076	A	C	ALMS1	c.738A>C	NM_001378454.1	NP_001365383.1:p.(Gln246His)	NC_000002.11:g.73650076A>C	VUS	1 lab	632bd60b99
11:20122645 NAV2 T>C	11	20122645	20122645	T	C	NAV2	c.6344T>C	NM_145117.5	NP_660093.2:p.(Ile2115Thr)	NC_000011.9:g.20122645T>C	VUS	1 lab	632daef9cd
X:20074884 MAP7D2 C>T	X	20074884	20074884	C	T	MAP7D2	c.398G>A	NM_001168465.2	NP_001161937.1:p.(Arg133Gln)	NC_000023.10:g.20074884C>T	VUS	1 lab	632e362be6
3:9962661 IL17RC C>T	3	9962661	9962661	C	T	IL17RC	c.835+8C>T	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9962661C>T	(Likely) benign	1 lab	229a550668
13:36242666 NBEA G>A	13	36242666	36242666	G	A	NBEA	c.8813+10G>A	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.36242666G>A	(Likely) benign	1 lab	63302eaf6f
3:142218546 ATR T>C	3	142218546	142218546	T	C	ATR	c.5303A>G	NM_001184.4	NP_001175.2:p.(Asp1768Gly)	NC_000003.11:g.142218546T>C	VUS	1 lab	63322ae91e
20:60897104 LAMA5 C>T	20	60897104	60897104	C	T	LAMA5	c.6467G>A	NM_005560.6	NP_005551.3:p.(Gly2156Glu)	NC_000020.10:g.60897104C>T	(Likely) benign	1 lab	63340c06db
15:73007740 BBS4 C>G	15	73007740	73007740	C	G	BBS4	c.329C>G	NM_033028.5	NP_149017.2:p.(Ser110Cys)	NC_000015.9:g.73007740C>G	(Likely) benign	1 lab	633438e960
3:121976222 CASR C>G	3	121976222	121976222	C	G	CASR	c.480C>G	NM_000388.4	NP_000379.3:p.(Phe160Leu)	NC_000003.11:g.121976222C>G	VUS	1 lab	6334ebacf3
1:155451951 ASH1L G>A	1	155451951	155451951	G	A	ASH1L	c.710C>T	NM_018489.3	NP_060959.2:p.(Pro237Leu)	NC_000001.10:g.155451951G>A	VUS	1 lab	6335df07f1
2:25469630 DNMT3A C>T	2	25469630	25469630	C	T	DNMT3A	c.1138G>A	NM_175629.2	NP_783328.1:p.(Ala380Thr)	NC_000002.11:g.25469630C>T	VUS	1 lab	2194b878f8
8:145008159 PLEC C>G	8	145008159	145008159	C	G	PLEC	c.1263+7G>C	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145008159C>G	(Likely) benign	1 lab	63375145cf
2:219610499 TTLL4 A>ACTC	2	219610499	219610501	A	ACTC	TTLL4	c.1873_1874insTCC	NM_014640.5	NP_055455.3:p.(Gly624_Arg625insLeu)	NC_000002.11:g.219610500_219610501insTCC	VUS	1 lab	6339ce0704
17:10549077 MYH3 A>G	17	10549077	10549077	A	G	MYH3	c.1088T>C	NM_002470.4	NP_002461.2:p.(Met363Thr)	NC_000017.10:g.10549077A>G	VUS	1 lab	633a6b903c
10:255953 ZMYND11 G>C	10	255953	255953	G	C	ZMYND11	c.241G>C	NM_001370100.5	NP_001357029.1:p.(Glu81Gln)	NC_000010.10:g.255953G>C	VUS	1 lab	633b23d634
19:42560893 GRIK5 G>A	19	42560893	42560893	G	A	GRIK5	c.824C>T	NM_002088.5	NP_002079.3:p.(Pro275Leu)	NC_000019.9:g.42560893G>A	(Likely) benign	1 lab	633b2fad89
4:2233755 HAUS3 C>A	4	2233755	2233755	C	A	HAUS3	c.1711G>T	NM_001303143.2	NP_001290072.1:p.(Glu571Ter)	NC_000004.11:g.2233755C>A	VUS	1 lab	633c1be799
X:131203500 STK26 C>T	X	131203500	131203500	C	T	STK26	c.598-6C>T	NM_016542.4	NP_057626.2:p.?	NC_000023.10:g.131203500C>T	(Likely) benign	1 lab	633cdee7a3
2:233406204 CHRNG C>T	2	233406204	233406204	C	T	CHRNG	c.471C>T	NM_005199.5	NP_005190.4:p.(Phe157=)	NC_000002.11:g.233406204C>T	(Likely) benign	1 lab	229bee0317
X:20060647 MAP7D2 T>C	X	20060647	20060647	T	C	MAP7D2	c.980A>G	NM_001168465.2	NP_001161937.1:p.(Lys327Arg)	NC_000023.10:g.20060647T>C	(Likely) benign	1 lab	6344418f8b
17:4802649 CHRNE C>G	17	4802649	4802649	C	G	CHRNE	c.1063G>C	NM_000080.4	NP_000071.1:p.(Gly355Arg)	NC_000017.10:g.4802649C>G	VUS	1 lab	6344e2343d
19:10473034 TYK2 G>A	19	10473034	10473034	G	A	TYK2	c.1575C>T	NM_003331.4	NP_003322.3:p.(Ser525=)	NC_000019.9:g.10473034G>A	(Likely) benign	1 lab	229c92aefc
X:43656491 MAOB G>C	X	43656491	43656491	G	C	MAOB	c.499C>G	NM_000898.5	NP_000889.3:p.(Leu167Val)	NC_000023.10:g.43656491G>C	VUS	1 lab	63d6677788
21:46935942 SLC19A1 G>A	21	46935942	46935942	G	A	SLC19A1	c.1406C>T	NM_194255.4	NP_919231.1:p.(Ala469Val)	NC_000021.8:g.46935942G>A	(Likely) benign	1 lab	634626a203
1:180235586 LHX4 G>A	1	180235586	180235586	G	A	LHX4	c.308G>A	NM_033343.4	NP_203129.1:p.(Arg103His)	NC_000001.10:g.180235586G>A	VUS	1 lab	6348a7b633
18:2772305 SMCHD1 A>G	18	2772305	2772305	A	G	SMCHD1	c.5110A>G	NM_015295.3	NP_056110.2:p.(Lys1704Glu)	NC_000018.9:g.2772305A>G	VUS	1 lab	6471a42691
2:240029885 HDAC4 G>A	2	240029885	240029885	G	A	HDAC4	c.1979-6C>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240029885G>A	(Likely) benign	1 lab	6348e0d705
8:10467671 RP1L1 C>CT	8	10467671	10467672	C	CT	RP1L1	c.3936dup	NM_178857.6	NP_849188.4:p.(Glu1313ArgfsTer14)	NC_000008.10:g.10467672dup	(Likely) benign	1 lab	634938da59
11:26465383 ANO3 G>A	11	26465383	26465383	G	A	ANO3	c.313G>A	NM_031418.4	NP_113606.2:p.(Ala105Thr)	NC_000011.9:g.26465383G>A	VUS	1 lab	63496c7edd
5:140236189 PCDHA1 G>C	5	140236189	140236189	G	C	PCDHA1	c.2394+67920G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140236189G>C	VUS	1 lab	6349c06358
7:100684359 MUC17 T>C	7	100684359	100684359	T	C	MUC17	c.9662T>C	NM_001040105.2	NP_001035194.1:p.(Met3221Thr)	NC_000007.13:g.100684359T>C	(Likely) benign	1 lab	634e65f3e7
14:68944359 RAD51B C>CTTTTTT	14	68944359	68944363	C	CTTTTTT	RAD51B	c.1037-3_1037-2insTTTTTT	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68944362_68944363insTTTTTT	(Likely) benign	1 lab	634e7e500b
7:99700579 AP4M1 T>C	7	99700579	99700579	T	C	AP4M1	c.347T>C	NM_004722.4	NP_004713.2:p.(Val116Ala)	NC_000007.13:g.99700579T>C	VUS	1 lab	6351f1c58d
7:100279394 GIGYF1 C>T	7	100279394	100279394	C	T	GIGYF1	c.3056G>A	NM_001375765.1	NP_001362694.1:p.(Gly1019Glu)	NC_000007.13:g.100279394C>T	VUS	1 lab	63527ccc17
8:144999369 PLEC C>T	8	144999369	144999369	C	T	PLEC	c.4728G>A	NM_201384.3	NP_958786.1:p.(Ala1576=)	NC_000008.10:g.144999369C>T	(Likely) benign	1 lab	6352ccf8cc
X:32862902 DMD T>A	X	32862902	32862902	T	A	DMD	c.262A>T	NM_004006.3	NP_003997.2:p.(Asn88Tyr)	NC_000023.10:g.32862902T>A	VUS	1 lab	6353421a47
17:57079025 TRIM37 C>T	17	57079025	57079025	C	T	TRIM37	c.2746G>A	NM_015294.6	NP_056109.1:p.(Glu916Lys)	NC_000017.10:g.57079025C>T	VUS	1 lab	6354cc15e5
X:151869488 MAGEA3 G>A	X	151869488	151869488	G	A	MAGEA3	c.178G>A	NM_005362.4	NP_005353.1:p.(Asp60Asn)	NC_000023.10:g.151869488G>A	VUS	1 lab	635505253a
16:30727803 SRCAP A>G	16	30727803	30727803	A	G	SRCAP	c.2817+3A>G	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30727803A>G	(Likely) benign	1 lab	6355819fa6
12:48526712 PFKM G>A	12	48526712	48526712	G	A	PFKM	c.512G>A	NM_001166686.2	NP_001160158.1:p.(Arg171Gln)	NC_000012.11:g.48526712G>A	(Likely) benign	1 lab	22a2b51794
15:89386859 ACAN A>G	15	89386859	89386859	A	G	ACAN	c.1031A>G	NM_001369268.1	NP_001356197.1:p.(Tyr344Cys)	NC_000015.9:g.89386859A>G	VUS	1 lab	63571bcb67
7:1510263 INTS1 C>T	7	1510263	1510263	C	T	INTS1	c.6523G>A	NM_001080453.3	NP_001073922.2:p.(Ala2175Thr)	NC_000007.13:g.1510263C>T	(Likely) benign	1 lab	6378ed49b8
2:230676128 TRIP12 CTT>C	2	230676128	230676130	CTT	C	TRIP12	c.1987-210_1987-209del	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230676129_230676130del	(Likely) benign	1 lab	63580221e7
2:86292455 POLR1A C>T	2	86292455	86292455	C	T	POLR1A	c.2000G>A	NM_015425.6	NP_056240.2:p.(Arg667His)	NC_000002.11:g.86292455C>T	(Likely) benign	1 lab	6358d70dd5
7:99677161 ZNF3 GC>G	7	99677161	99677163	GC	G	ZNF3	c.-80del	NM_032924.5	NP_116313.3:p.?	NC_000007.13:g.99677163del	VUS	1 lab	63594917a2
3:58110207 FLNB G>C	3	58110207	58110207	G	C	FLNB	c.3873G>C	NM_001457.4	NP_001448.2:p.(Gln1291His)	NC_000003.11:g.58110207G>C	VUS	1 lab	635abf07d2
3:134873105 EPHB1 G>A	3	134873105	134873105	G	A	EPHB1	c.1409G>A	NM_004441.5	NP_004432.1:p.(Arg470Gln)	NC_000003.11:g.134873105G>A	VUS	1 lab	635b24eb53
17:36065028 HNF1B G>A	17	36065028	36065028	G	A	HNF1B	c.1235C>T	NM_000458.4	NP_000449.1:p.(Pro412Leu)	NC_000017.10:g.36065028G>A	VUS	1 lab	635d1eb00c
19:14273567 ADGRL1 C>T	19	14273567	14273567	C	T	ADGRL1	c.1046G>A	NM_014921.5	NP_055736.2:p.(Arg349His)	NC_000019.9:g.14273567C>T	(Likely) benign	1 lab	635de26d87
8:10467673 RP1L1 C>CTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTT	8	10467673	10467674	C	CTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTT	RP1L1	c.3934_3935insAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGGAAACTAAAACA	NM_178857.6	NP_849188.4:p.(Gly1312GlufsTer26)	NC_000008.10:g.10467673_10467674insTGTTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTT	(Likely) benign	1 lab	635dff7886
17:30315505 SUZ12 C>T	17	30315505	30315505	C	T	SUZ12	c.1190C>T	NM_015355.4	NP_056170.2:p.(Thr397Ile)	NC_000017.10:g.30315505C>T	VUS	1 lab	636524fdd1
X:21990688 SMS C>T	X	21990688	21990688	C	T	SMS	c.328C>T	NM_004595.5	NP_004586.2:p.(Arg110Ter)	NC_000023.10:g.21990688C>T	VUS	1 lab	6366ffd7b2
17:79214927 NDUFAF8 C>T	17	79214927	79214927	C	T	NDUFAF8	c.*111C>T	NM_001086521.2	NP_001079990.1:p.?	NC_000017.10:g.79214927C>T	(Likely) benign	1 lab	63783c149f
2:27529381 TRIM54 C>T	2	27529381	27529381	C	T	TRIM54	c.1049C>T	NM_187841.3	NP_912730.2:p.(Pro350Leu)	NC_000002.11:g.27529381C>T	(Likely) benign	1 lab	6378ae440c
8:41791512 KAT6A A>C	8	41791512	41791512	A	C	KAT6A	c.4226T>G	NM_006766.5	NP_006757.2:p.(Leu1409Ter)	NC_000008.10:g.41791512A>C	(Likely) pathogenic	1 lab	6379327375
X:11779018 MSL3 G>A	X	11779018	11779018	G	A	MSL3	c.344G>A	NM_078629.4	NP_523353.2:p.(Gly115Asp)	NC_000023.10:g.11779018G>A	(Likely) benign	1 lab	637970c02d
13:21729289 SKA3 T>TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	13	21729289	21729291	T	TCAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCA	SKA3	c.1239-1_1239insTGCCACCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACTG	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729290_21729291insAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGGTGGCAC	(Likely) benign	1 lab	6367950b47
15:33954396 RYR3 G>A	15	33954396	33954396	G	A	RYR3	c.4665G>A	NM_001036.6	NP_001027.3:p.(Met1555Ile)	NC_000015.9:g.33954396G>A	VUS	1 lab	6367d6495b
16:2155411 PKD1 C>G	16	2155411	2155411	C	G	PKD1	c.7928G>C	NM_001009944.3	NP_001009944.3:p.(Arg2643Pro)	NC_000016.9:g.2155411C>G	VUS	1 lab	636c0cc53d
9:86616443 RMI1 T>C	9	86616443	86616443	T	C	RMI1	c.542T>C	NM_001358291.2	NP_001345220.1:p.(Leu181Ser)	NC_000009.11:g.86616443T>C	(Likely) benign	1 lab	636c1d6917
22:45996305 FBLN1 C>A	22	45996305	45996305	C	A	FBLN1	c.2091C>A	NM_006486.3	NP_006477.3:p.(Phe697Leu)	NC_000022.10:g.45996305C>A	VUS	1 lab	636c5a5182
1:27124258 PIGV C>G	1	27124258	27124258	C	G	PIGV	c.1405C>G	NM_017837.4	NP_060307.2:p.(Arg469Gly)	NC_000001.10:g.27124258C>G	VUS	1 lab	6372834e40
6:10877596 GCM2 C>A	6	10877596	10877596	C	A	GCM2	c.120G>T	NM_004752.4	NP_004743.1:p.(Glu40Asp)	NC_000006.11:g.10877596C>A	VUS	1 lab	6373fe619c
9:138714948 CAMSAP1 G>A	9	138714948	138714948	G	A	CAMSAP1	c.1559C>T	NM_015447.4	NP_056262.3:p.(Thr520Met)	NC_000009.11:g.138714948G>A	VUS	1 lab	6375825ae2
3:16327885 OXNAD1 G>T	3	16327885	16327885	G	T	OXNAD1	c.220G>T	NM_138381.5	NP_612390.1:p.(Glu74Ter)	NC_000003.11:g.16327885G>T	VUS	1 lab	63764a3c96
1:53986441 GLIS1 T>C	1	53986441	53986441	T	C	GLIS1	c.1594-2A>G	NM_001367484.1	NP_001354413.1:p.?	NC_000001.10:g.53986441T>C	VUS	1 lab	641a74092f
5:1232468 SLC6A18 G>A	5	1232468	1232468	G	A	SLC6A18	c.295G>A	NM_182632.3	NP_872438.2:p.(Gly99Arg)	NC_000005.9:g.1232468G>A	(Likely) benign	1 lab	63777e0431
16:169157 NPRL3 G>A	16	169157	169157	G	A	NPRL3	c.286C>T	NM_001077350.3	NP_001070818.1:p.(His96Tyr)	NC_000016.9:g.169157G>A	(Likely) benign	1 lab	2194da7fc8
8:62588657 ASPH T>G	8	62588657	62588657	T	G	ASPH	c.322+4870A>C	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62588657T>G	(Likely) benign	1 lab	637a6dac07
1:214836979 CENPF C>T	1	214836979	214836979	C	T	CENPF	c.9187C>T	NM_016343.4	NP_057427.3:p.(Arg3063Ter)	NC_000001.10:g.214836979C>T	VUS	1 lab	637a985486
6:51947967 PKHD1 C>T	6	51947967	51947967	C	T	PKHD1	c.130+9G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51947967C>T	(Likely) benign	1 lab	637ad4c03a
21:47786980 PCNT C>T	21	47786980	47786980	C	T	PCNT	c.3091C>T	NM_006031.6	NP_006022.3:p.(Arg1031Trp)	NC_000021.8:g.47786980C>T	VUS	1 lab	637bc06444
12:56398373 SUOX C>G	12	56398373	56398373	C	G	SUOX	c.1200C>G	NM_000456.3	NP_000447.2:p.(Tyr400Ter)	NC_000012.11:g.56398373C>G	(Likely) pathogenic	1 lab	22a4e3c8d4
2:216292957 FN1 C>T	2	216292957	216292957	C	T	FN1	c.790G>A	NM_212482.4	NP_997647.2:p.(Gly264Ser)	NC_000002.11:g.216292957C>T	VUS	1 lab	637e9303e3
7:6561105 GRID2IP T>C	7	6561105	6561105	T	C	GRID2IP	c.1039A>G	NM_001145118.2	NP_001138590.1:p.(Met347Val)	NC_000007.13:g.6561105T>C	(Likely) benign	1 lab	638065f696
9:95040161 IARS1 A>G	9	95040161	95040161	A	G	IARS1	c.878T>C	NM_002161.6	NP_002152.2:p.(Phe293Ser)	NC_000009.11:g.95040161A>G	VUS	1 lab	6380d2569c
4:54343118 LNX1 T>A	4	54343118	54343118	T	A	LNX1	c.1694A>T	NM_001126328.3	NP_001119800.1:p.(Glu565Val)	NC_000004.11:g.54343118T>A	VUS	1 lab	6380f5b0b3
15:66995847 SMAD6 G>T	15	66995847	66995847	G	T	SMAD6	c.251G>T	NM_005585.5	NP_005576.3:p.(Arg84Leu)	NC_000015.9:g.66995847G>T	VUS	1 lab	6383038f2a
11:22283791 ANO5 G>A	11	22283791	22283791	G	A	ANO5	c.1747G>A	NM_213599.3	NP_998764.1:p.(Val583Ile)	NC_000011.9:g.22283791G>A	VUS	1 lab	63836b3851
X:67938301 STARD8 GGAA>G	X	67938301	67938308	GGAA	G	STARD8	c.1550_1552del	NM_001142503.3	NP_001135975.1:p.(Glu517del)	NC_000023.10:g.67938306_67938308del	VUS	1 lab	6384199d76
X:153296258 MECP2 TCTTACA>T	X	153296258	153296264	TCTTACA	T	MECP2	c.1051_1056del	NM_001110792.2	NP_001104262.1:p.(Cys351_Lys352del)	NC_000023.10:g.153296259_153296264del	(Likely) pathogenic	1 lab	6386074846
19:36221229 KMT2B A>ACC	19	36221229	36221234	A	ACC	KMT2B	c.5077-10_5077-9dup	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36221233_36221234dup	(Likely) benign	1 lab	638695e562
14:51288710 NIN G>A	14	51288710	51288710	G	A	NIN	c.65C>T	NM_020921.4	NP_065972.4:p.(Thr22Met)	NC_000014.8:g.51288710G>A	VUS	1 lab	638747efe7
13:31495697 MEDAG G>T	13	31495697	31495697	G	T	MEDAG	c.502-1G>T	NM_032849.4	NP_116238.3:p.?	NC_000013.10:g.31495697G>T	VUS	1 lab	63892d7bcf
10:89501087 PAPSS2 A>C	10	89501087	89501087	A	C	PAPSS2	c.1182A>C	NM_001015880.2	NP_001015880.1:p.(Thr394=)	NC_000010.10:g.89501087A>C	(Likely) benign	1 lab	63896fd116
3:69845645 MITF CTT>C	3	69845645	69845668	CTT	C	MITF	c.104+56815_104+56816del	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.69845667_69845668del	(Likely) benign	1 lab	638ba57081
2:179590146 TTN T>C	2	179590146	179590146	T	C	TTN	c.20785A>G	NM_001267550.2	NP_001254479.2:p.(Ile6929Val)	NC_000002.11:g.179590146T>C	VUS	1 lab	638c0b10fb
9:109691098 ZNF462 T>TGAG	9	109691098	109691108	T	TGAG	ZNF462	c.4913_4915dup	NM_021224.6	NP_067047.4:p.(Glu1638dup)	NC_000009.11:g.109691106_109691108dup	(Likely) benign	1 lab	638cc5be8a
5:176318163 HK3 C>T	5	176318163	176318163	C	T	HK3	c.289G>A	NM_002115.3	NP_002106.2:p.(Gly97Arg)	NC_000005.9:g.176318163C>T	VUS	1 lab	638d0d92af
1:35478075 ZMYM6 A>C	1	35478075	35478075	A	C	ZMYM6	c.903T>G	NM_007167.4	NP_009098.3:p.(Ile301Met)	NC_000001.10:g.35478075A>C	(Likely) benign	1 lab	638da15b7f
1:31447545 PUM1 A>T	1	31447545	31447545	A	T	PUM1	c.1459T>A	NM_001020658.2	NP_001018494.1:p.(Ser487Thr)	NC_000001.10:g.31447545A>T	VUS	1 lab	638e111a5f
11:46396984 DGKZ C>T	11	46396984	46396984	C	T	DGKZ	c.1710C>T	NM_001199267.2	NP_001186196.1:p.(Ala570=)	NC_000011.9:g.46396984C>T	(Likely) benign	1 lab	638e173955
6:142741157 ADGRG6 A>G	6	142741157	142741157	A	G	ADGRG6	c.3235A>G	NM_198569.3	NP_940971.2:p.(Met1079Val)	NC_000006.11:g.142741157A>G	VUS	1 lab	638e25429d
1:32150170 COL16A1 G>A	1	32150170	32150170	G	A	COL16A1	c.2114C>T	NM_001856.4	NP_001847.3:p.(Ser705Leu)	NC_000001.10:g.32150170G>A	VUS	1 lab	638e349ef4
10:74235056 MICU1 C>T	10	74235056	74235056	C	T	MICU1	c.736-1G>A	NM_001195518.2	NP_001182447.1:p.?	NC_000010.10:g.74235056C>T	(Likely) pathogenic	1 lab	638f1891bd
3:70014295 MITF G>A	3	70014295	70014295	G	A	MITF	c.1477G>A	NM_001354604.2	NP_001341533.1:p.(Val493Ile)	NC_000003.11:g.70014295G>A	VUS	1 lab	63901c6179
3:53752406 CACNA1D G>A	3	53752406	53752406	G	A	CACNA1D	c.1469G>A	NM_001128840.3	NP_001122312.1:p.(Gly490Glu)	NC_000003.11:g.53752406G>A	(Likely) benign	1 lab	63911a9360
2:10188610 KLF11 T>G	2	10188610	10188610	T	G	KLF11	c.1146T>G	NM_003597.5	NP_003588.1:p.(Cys382Trp)	NC_000002.11:g.10188610T>G	VUS	1 lab	63920b0470
X:35966458 CFAP47 A>G	X	35966458	35966458	A	G	CFAP47	c.545A>G	NM_001304548.2	NP_001291477.1:p.(Gln182Arg)	NC_000023.10:g.35966458A>G	VUS	1 lab	63925a7fdd
9:134034767 NUP214 T>C	9	134034767	134034767	T	C	NUP214	c.2437-3T>C	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134034767T>C	(Likely) benign	1 lab	63925eb883
1:984427 AGRN G>A	1	984427	984427	G	A	AGRN	c.4286G>A	NM_198576.4	NP_940978.2:p.(Arg1429His)	NC_000001.10:g.984427G>A	VUS	1 lab	63928159ef
20:31023921 ASXL1 G>C	20	31023921	31023921	G	C	ASXL1	c.3406G>C	NM_015338.6	NP_056153.2:p.(Val1136Leu)	NC_000020.10:g.31023921G>C	(Likely) benign	1 lab	6392ee8d68
12:133067449 FBRSL1 T>A	12	133067449	133067449	T	A	FBRSL1	c.291+2T>A	NM_001367871.1	NP_001354800.1:p.?	NC_000012.11:g.133067449T>A	(Likely) benign	1 lab	63941206b6
20:34765884 EPB41L1 G>A	20	34765884	34765884	G	A	EPB41L1	c.353G>A	NM_012156.2	NP_036288.2:p.(Arg118Gln)	NC_000020.10:g.34765884G>A	(Likely) benign	1 lab	6395cab6af
15:99465453 IGF1R G>A	15	99465453	99465453	G	A	IGF1R	c.2278G>A	NM_000875.5	NP_000866.1:p.(Ala760Thr)	NC_000015.9:g.99465453G>A	(Likely) benign	1 lab	63960ecb40
8:145000017 PLEC C>T	8	145000017	145000017	C	T	PLEC	c.4080G>A	NM_201384.3	NP_958786.1:p.(Glu1360=)	NC_000008.10:g.145000017C>T	(Likely) benign	1 lab	639715ea53
13:37441435 SMAD9 A>G	13	37441435	37441435	A	G	SMAD9	c.756T>C	NM_001127217.3	NP_001120689.1:p.(His252=)	NC_000013.10:g.37441435A>G	(Likely) benign	1 lab	6397689f87
12:106820972 POLR3B TAGC>T	12	106820972	106820975	TAGC	T	POLR3B	c.1102-2_1102del	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106820973_106820975del	(Likely) benign	1 lab	639834b4f5
17:9760892 GLP2R A>C	17	9760892	9760892	A	C	GLP2R	c.764A>C	NM_004246.3	NP_004237.1:p.(Glu255Ala)	NC_000017.10:g.9760892A>C	(Likely) benign	1 lab	639956aead
X:130415881 IGSF1 G>T	X	130415881	130415881	G	T	IGSF1	c.1284C>A	NM_001555.5	NP_001546.2:p.(Ser428Arg)	NC_000023.10:g.130415881G>T	VUS	1 lab	639a746c0b
X:32716118 DMD G>A	X	32716118	32716118	G	A	DMD	c.832-3C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32716118G>A	(Likely) benign	1 lab	639ac667ad
11:125850943 CDON C>A	11	125850943	125850943	C	A	CDON	c.3276+1G>T	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125850943C>A	VUS	1 lab	639b43faa6
9:116812061 ZNF618 G>A	9	116812061	116812061	G	A	ZNF618	c.2479G>A	NM_001318042.2	NP_001304971.1:p.(Gly827Ser)	NC_000009.11:g.116812061G>A	VUS	1 lab	639c918b4c
12:2659124 CACNA1C G>A	12	2659124	2659124	G	A	CACNA1C	c.1406G>A	NM_001167623.2	NP_001161095.1:p.(Ser469Asn)	NC_000012.11:g.2659124G>A	VUS	1 lab	22a55caeaa
10:11990368 UPF2 CTCT>C	10	11990368	11990377	CTCT	C	UPF2	c.3171_3173del	NM_015542.4	NP_056357.1:p.(Glu1059del)	NC_000010.10:g.11990375_11990377del	VUS	1 lab	639e98eb0f
6:12292628 EDN1 C>T	6	12292628	12292628	C	T	EDN1	c.119C>T	NM_001955.5	NP_001946.3:p.(Thr40Ile)	NC_000006.11:g.12292628C>T	(Likely) benign	1 lab	639f1add9b
6:51612799 PKHD1 A>C	6	51612799	51612799	A	C	PKHD1	c.9615T>G	NM_138694.4	NP_619639.3:p.(Ile3205Met)	NC_000006.11:g.51612799A>C	VUS	1 lab	639f24c855
15:28359787 HERC2 C>T	15	28359787	28359787	C	T	HERC2	c.13884G>A	NM_004667.6	NP_004658.3:p.(Ala4628=)	NC_000015.9:g.28359787C>T	VUS	1 lab	63a0eda80a
11:6653663 DCHS1 G>A	11	6653663	6653663	G	A	DCHS1	c.3080C>T	NM_003737.4	NP_003728.1:p.(Pro1027Leu)	NC_000011.9:g.6653663G>A	VUS	1 lab	63ad2aa309
4:170428187 NEK1 C>A	4	170428187	170428187	C	A	NEK1	c.2007+1G>T	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170428187C>A	(Likely) pathogenic	1 lab	63a163bc93
1:22186146 HSPG2 C>T	1	22186146	22186146	C	T	HSPG2	c.5206G>A	NM_005529.7	NP_005520.4:p.(Val1736Ile)	NC_000001.10:g.22186146C>T	VUS	1 lab	63a1a770c4
X:153409762 OPN1LW C>T	X	153409762	153409762	C	T	OPN1LW	c.5C>T	NM_020061.6	NP_064445.2:p.(Ala2Val)	NC_000023.10:g.153409762C>T	(Likely) benign	1 lab	63a22d33ce
X:101624123 NXF2B A>C	X	101624123	101624123	A	C	NXF2B	c.465T>G	NM_001099686.3	NP_001093156.1:p.(Val155=)	NC_000023.10:g.101624123A>C	(Likely) benign	1 lab	63a45b6c39
22:40045700 CACNA1I G>A	22	40045700	40045700	G	A	CACNA1I	c.1762G>A	NM_021096.4	NP_066919.2:p.(Glu588Lys)	NC_000022.10:g.40045700G>A	VUS	1 lab	63a4d0a713
5:176562175 NSD1 C>T	5	176562175	176562175	C	T	NSD1	c.71C>T	NM_022455.5	NP_071900.2:p.(Ala24Val)	NC_000005.9:g.176562175C>T	VUS	1 lab	63a65dbd56
X:57337106 FAAH2 A>G	X	57337106	57337106	A	G	FAAH2	c.356A>G	NM_174912.4	NP_777572.2:p.(Asn119Ser)	NC_000023.10:g.57337106A>G	(Likely) benign	1 lab	63a7e15dbe
6:131915482 MED23 A>C	6	131915482	131915482	A	C	MED23	c.2996-7T>G	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131915482A>C	VUS	1 lab	63a800dbc3
3:30732904 TGFBR2 C>T	3	30732904	30732904	C	T	TGFBR2	c.1525-8C>T	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30732904C>T	(Likely) benign	1 lab	63a806db2e
14:99969307 CCNK G>T	14	99969307	99969307	G	T	CCNK	c.997G>T	NM_001099402.2	NP_001092872.1:p.(Val333Phe)	NC_000014.8:g.99969307G>T	(Likely) benign	1 lab	63aabec225
18:50923672 DCC G>T	18	50923672	50923672	G	T	DCC	c.2689-6G>T	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50923672G>T	VUS	1 lab	63aaddfb79
X:135487894 ADGRG4 G>T	X	135487894	135487894	G	T	ADGRG4	c.8698G>T	NM_153834.4	NP_722576.3:p.(Ala2900Ser)	NC_000023.10:g.135487894G>T	VUS	1 lab	63abcedb92
1:22168157 HSPG2 T>A	1	22168157	22168157	T	A	HSPG2	c.9203A>T	NM_005529.7	NP_005520.4:p.(His3068Leu)	NC_000001.10:g.22168157T>A	(Likely) benign	1 lab	63ac07c23b
1:161279713 MPZ G>A	1	161279713	161279713	G	A	MPZ	c.-18C>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161279713G>A	VUS	1 lab	63ac262413
2:44028773 DYNC2LI1 C>T	2	44028773	44028773	C	T	DYNC2LI1	c.732-5C>T	NM_016008.4	NP_057092.2:p.?	NC_000002.11:g.44028773C>T	(Likely) benign	1 lab	63ae6f282c
17:11659916 DNAH9 C>T	17	11659916	11659916	C	T	DNAH9	c.6770C>T	NM_001372.4	NP_001363.2:p.(Pro2257Leu)	NC_000017.10:g.11659916C>T	VUS	1 lab	2196acca60
2:112638236 ANAPC1 CCAG>C	2	112638236	112638244	CCAG	C	ANAPC1	c.164_166del	NM_022662.4	NP_073153.1:p.(Ala55del)	NC_000002.11:g.112638242_112638244del	VUS	1 lab	63b1599bce
3:52855000 ITIH4 C>A	3	52855000	52855000	C	A	ITIH4	c.1679+7G>T	NM_002218.5	NP_002209.2:p.?	NC_000003.11:g.52855000C>A	VUS	1 lab	63b180f361
12:124827700 NCOR2 G>A	12	124827700	124827700	G	A	NCOR2	c.4787C>T	NM_006312.6	NP_006303.4:p.(Pro1596Leu)	NC_000012.11:g.124827700G>A	VUS	1 lab	63b23bb409
1:46654908 POMGNT1 C>T	1	46654908	46654908	C	T	POMGNT1	c.*34G>A	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46654908C>T	(Likely) benign	1 lab	63b4f02a99
5:89985774 ADGRV1 A>G	5	89985774	89985774	A	G	ADGRV1	c.6587A>G	NM_032119.4	NP_115495.3:p.(Glu2196Gly)	NC_000005.9:g.89985774A>G	VUS	1 lab	63b7c0c1f6
19:7982478 TGFBR3L C>G	19	7982478	7982478	C	G	TGFBR3L	c.646C>G	NM_001419781.1	NP_001406710.1:p.(Pro216Ala)	NC_000019.9:g.7982478C>G	VUS	1 lab	63b81ae6c6
X:135579854 HTATSF1 C>A	X	135579854	135579854	C	A	HTATSF1	c.11C>A	NM_014500.5	NP_055315.2:p.(Thr4Asn)	NC_000023.10:g.135579854C>A	VUS	1 lab	63b93661a1
11:17449919 ABCC8 G>A	11	17449919	17449919	G	A	ABCC8	c.1957C>T	NM_000352.6	NP_000343.2:p.(Arg653Trp)	NC_000011.9:g.17449919G>A	VUS	1 lab	63b9c622ef
7:92763369 SAMD9L C>T	7	92763369	92763369	C	T	SAMD9L	c.1916G>A	NM_152703.5	NP_689916.2:p.(Gly639Glu)	NC_000007.13:g.92763369C>T	VUS	1 lab	63baa79b0a
15:23686065 GOLGA6L2 C>A	15	23686065	23686065	C	A	GOLGA6L2	c.1557G>T	NM_001304388.2	NP_001291317.1:p.(Lys519Asn)	NC_000015.9:g.23686065C>A	(Likely) benign	1 lab	63bad62577
16:89220494 ACSF3 G>A	16	89220494	89220494	G	A	ACSF3	c.1614-4G>A	NM_001243279.3	NP_001230208.1:p.?	NC_000016.9:g.89220494G>A	(Likely) benign	1 lab	63c06e6377
16:360059 AXIN1 G>A	16	360059	360059	G	A	AXIN1	c.1030C>T	NM_003502.4	NP_003493.1:p.(Pro344Ser)	NC_000016.9:g.360059G>A	VUS	1 lab	63c1bcc317
17:42992729 GFAP C>T	17	42992729	42992729	C	T	GFAP	c.126G>A	NM_002055.5	NP_002046.1:p.(Met42Ile)	NC_000017.10:g.42992729C>T	VUS	1 lab	63c2706957
X:8763192 FAM9A CCTCCTTCTT>C	X	8763192	8763215	CCTCCTTCTT	C	FAM9A	c.749_757del	NM_174951.3	NP_777611.1:p.(Glu250_Gly252del)	NC_000023.10:g.8763207_8763215del	(Likely) benign	1 lab	63c5cc63be
2:128051633 ERCC3 G>C	2	128051633	128051633	G	C	ERCC3	c.25C>G	NM_000122.2	NP_000113.1:p.(Arg9Gly)	NC_000002.11:g.128051633G>C	(Likely) benign	1 lab	63c5ee59f0
7:155595757 SHH C>G	7	155595757	155595757	C	G	SHH	c.1226G>C	NM_000193.4	NP_000184.1:p.(Gly409Ala)	NC_000007.13:g.155595757C>G	VUS	1 lab	63c730f06e
15:80452225 FAH A>G	15	80452225	80452225	A	G	FAH	c.314+6A>G	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452225A>G	(Likely) benign	1 lab	63c934bc94
X:24382417 SUPT20HL1 GCTGCTGCTGCTC>G	X	24382417	24382434	GCTGCTGCTGCTC	G	SUPT20HL1	c.1546_1557del	NM_001136234.3	NP_001129706.3:p.(Ala516_Ala519del)	NC_000023.10:g.24382423_24382434del	(Likely) benign	1 lab	63c93cf15e
7:142566338 EPHB6 C>T	7	142566338	142566338	C	T	EPHB6	c.2130C>T	NM_004445.6	NP_004436.4:p.(Ala710=)	NC_000007.13:g.142566338C>T	(Likely) benign	1 lab	63ca0f03ee
20:1184280 C20orf202 G>A	20	1184280	1184280	G	A	C20orf202	c.120G>A	NM_001009612.3	NP_001009612.1:p.(Trp40Ter)	NC_000020.10:g.1184280G>A	VUS	1 lab	63cb9f509f
11:118533594 TREH T>C	11	118533594	118533594	T	C	TREH	c.419A>G	NM_007180.3	NP_009111.2:p.(Lys140Arg)	NC_000011.9:g.118533594T>C	(Likely) benign	1 lab	63cc626db9
4:3494686 DOK7 C>T	4	3494686	3494686	C	T	DOK7	c.973C>T	NM_173660.5	NP_775931.3:p.(Arg325Trp)	NC_000004.11:g.3494686C>T	VUS	1 lab	644035de2a
20:31024157 ASXL1 T>G	20	31024157	31024157	T	G	ASXL1	c.3642T>G	NM_015338.6	NP_056153.2:p.(His1214Gln)	NC_000020.10:g.31024157T>G	(Likely) benign	1 lab	63cca51f5e
X:17153511 REPS2 C>T	X	17153511	17153511	C	T	REPS2	c.1790C>T	NM_004726.3	NP_004717.2:p.(Pro597Leu)	NC_000023.10:g.17153511C>T	VUS	1 lab	63cefd0d02
18:19751509 GATA6 A>G	18	19751509	19751509	A	G	GATA6	c.404A>G	NM_005257.6	NP_005248.2:p.(Lys135Arg)	NC_000018.9:g.19751509A>G	VUS	1 lab	63cfc8e3a9
15:33873743 RYR3 G>A	15	33873743	33873743	G	A	RYR3	c.1472G>A	NM_001036.6	NP_001027.3:p.(Arg491His)	NC_000015.9:g.33873743G>A	VUS	1 lab	63d0d54677
9:131012481 DNM1 G>T	9	131012481	131012481	G	T	DNM1	c.2164G>T	NM_004408.4	NP_004399.2:p.(Ala722Ser)	NC_000009.11:g.131012481G>T	VUS	1 lab	63d1512138
18:32650200 MAPRE2 A>G	18	32650200	32650200	A	G	MAPRE2	c.164A>G	NM_014268.4	NP_055083.1:p.(Gln55Arg)	NC_000018.9:g.32650200A>G	VUS	1 lab	21a07198b4
2:241661869 KIF1A C>G	2	241661869	241661869	C	G	KIF1A	c.4665+4G>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241661869C>G	VUS	1 lab	63d1b74c90
2:233346325 ECEL1 C>G	2	233346325	233346325	C	G	ECEL1	c.1880G>C	NM_004826.4	NP_004817.2:p.(Arg627Pro)	NC_000002.11:g.233346325C>G	VUS	1 lab	63dbf16ced
4:56277968 TMEM165 GTGCAATG>TTGCAATT	4	56277968	56277975	GTGCAATG	TTGCAATT	TMEM165	c.395_402delinsTTGCAATT	NM_018475.5	NP_060945.2:p.(Gly132_Met134delinsValAlaIle)	NC_000004.11:g.56277968_56277975delinsTTGCAATT	VUS	1 lab	63d4136d68
4:15004878 CPEB2 A>AGCCGCC	4	15004878	15004893	A	AGCCGCC	CPEB2	c.591_596dup	NM_001177382.2	NP_001170853.1:p.(Pro200_Pro201dup)	NC_000004.11:g.15004888_15004893dup	VUS	1 lab	63d5730e20
11:7817616 OR5P2 C>T	11	7817616	7817616	C	T	OR5P2	c.874G>A	NM_153444.1	NP_703145.1:p.(Glu292Lys)	NC_000011.9:g.7817616C>T	(Likely) benign	1 lab	63d5a98da3
16:2223211 TRAF7 T>C	16	2223211	2223211	T	C	TRAF7	c.823T>C	NM_032271.3	NP_115647.2:p.(Tyr275His)	NC_000016.9:g.2223211T>C	VUS	1 lab	63d5f30f2f
6:42946006 PEX6 C>T	6	42946006	42946006	C	T	PEX6	c.882+1G>A	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42946006C>T	(Likely) pathogenic	1 lab	21a267c71f
12:121435265 HNF1A C>T	12	121435265	121435265	C	T	HNF1A	c.1310-12C>T	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121435265C>T	(Likely) benign	1 lab	63d6bc8b3f
9:135772581 TSC1 C>A	9	135772581	135772581	C	A	TSC1	c.2965G>T	NM_000368.5	NP_000359.1:p.(Ala989Ser)	NC_000009.11:g.135772581C>A	(Likely) benign	1 lab	63d85e1eb6
2:109276110 LIMS1 G>A	2	109276110	109276110	G	A	LIMS1	c.232G>A	NM_001193485.3	NP_001180414.1:p.(Gly78Ser)	NC_000002.11:g.109276110G>A	(Likely) benign	1 lab	22a872ad76
20:46267794 NCOA3 A>G	20	46267794	46267794	A	G	NCOA3	c.2555A>G	NM_181659.3	NP_858045.1:p.(Tyr852Cys)	NC_000020.10:g.46267794A>G	VUS	1 lab	63d9254d9c
17:74383509 SPHK1 G>A	17	74383509	74383509	G	A	SPHK1	c.997G>A	NM_001142601.2	NP_001136073.1:p.(Asp333Asn)	NC_000017.10:g.74383509G>A	VUS	1 lab	63d951706c
12:99061352 APAF1 C>T	12	99061352	99061352	C	T	APAF1	c.1424C>T	NM_181861.2	NP_863651.1:p.(Pro475Leu)	NC_000012.11:g.99061352C>T	VUS	1 lab	63d9ac3eee
5:13919289 DNAH5 A>G	5	13919289	13919289	A	G	DNAH5	c.971T>C	NM_001369.3	NP_001360.1:p.(Leu324Pro)	NC_000005.9:g.13919289A>G	(Likely) benign	1 lab	63da184336
16:88787694 PIEZO1 GTCCGACCCTGGCT>G	16	88787694	88787710	GTCCGACCCTGGCT	G	PIEZO1	c.5535_5547del	NM_001142864.4	NP_001136336.2:p.(Glu1845AspfsTer72)	NC_000016.9:g.88787698_88787710del	(Likely) pathogenic	1 lab	63dbae9f0c
4:107246218 AIMP1 G>A	4	107246218	107246218	G	A	AIMP1	c.52G>A	NM_001142416.2	NP_001135888.2:p.(Ala18Thr)	NC_000004.11:g.107246218G>A	VUS	1 lab	63dc162c55
16:84088184 MBTPS1 G>T	16	84088184	84088184	G	T	MBTPS1	c.3029C>A	NM_003791.4	NP_003782.1:p.(Ala1010Asp)	NC_000016.9:g.84088184G>T	VUS	1 lab	63de21c149
19:11097598 SMARCA4 A>C	19	11097598	11097598	A	C	SMARCA4	c.778A>C	NM_003072.5	NP_003063.2:p.(Met260Leu)	NC_000019.9:g.11097598A>C	VUS	1 lab	63df881b6a
X:132090872 HS6ST2 A>G	X	132090872	132090872	A	G	HS6ST2	c.911T>C	NM_001394073.1	NP_001381002.1:p.(Val304Ala)	NC_000023.10:g.132090872A>G	VUS	1 lab	63e09ab2cc
1:155162022 MUC1 A>C	1	155162022	155162022	A	C	MUC1	c.138T>G	NM_001204286.1	NP_001191215.1:p.(Thr46=)	NC_000001.10:g.155162022A>C	(Likely) benign	1 lab	22ad465fbc
11:65320352 LTBP3 G>A	11	65320352	65320352	G	A	LTBP3	c.1165C>T	NM_001130144.3	NP_001123616.1:p.(Pro389Ser)	NC_000011.9:g.65320352G>A	(Likely) benign	1 lab	63e3c64f62
1:1221331 SCNN1D C>T	1	1221331	1221331	C	T	SCNN1D	c.584C>T	NM_001130413.4	NP_001123885.2:p.(Pro195Leu)	NC_000001.10:g.1221331C>T	(Likely) benign	1 lab	63e3f5c4c2
15:91312735 BLM C>T	15	91312735	91312735	C	T	BLM	c.2474C>T	NM_000057.4	NP_000048.1:p.(Pro825Leu)	NC_000015.9:g.91312735C>T	VUS	1 lab	63e471b8f4
14:99723803 BCL11B C>T	14	99723803	99723803	C	T	BCL11B	c.427+5G>A	NM_138576.4	NP_612808.1:p.?	NC_000014.8:g.99723803C>T	(Likely) benign	1 lab	63e4bfc0ae
X:35820968 MAGEB16 C>T	X	35820968	35820968	C	T	MAGEB16	c.655C>T	NM_001370158.1	NP_001357087.1:p.(Arg219Cys)	NC_000023.10:g.35820968C>T	VUS	1 lab	63e4f6f2bd
17:36093656 HNF1B G>A	17	36093656	36093656	G	A	HNF1B	c.703C>T	NM_000458.4	NP_000449.1:p.(Arg235Trp)	NC_000017.10:g.36093656G>A	(Likely) pathogenic	1 lab	63e5acd9b0
1:235950657 LYST T>G	1	235950657	235950657	T	G	LYST	c.4705A>C	NM_000081.4	NP_000072.2:p.(Asn1569His)	NC_000001.10:g.235950657T>G	VUS	1 lab	63e5f5e24f
1:19486688 UBR4 C>T	1	19486688	19486688	C	T	UBR4	c.5494G>A	NM_020765.3	NP_065816.2:p.(Val1832Ile)	NC_000001.10:g.19486688C>T	VUS	1 lab	63e6b6f722
19:12866554 BEST2 GTTC>G	19	12866554	12866564	GTTC	G	BEST2	c.848_850del	NM_017682.3	NP_060152.2:p.(Phe283del)	NC_000019.9:g.12866562_12866564del	(Likely) benign	1 lab	63e6fe2b8d
15:63942085 HERC1 G>T	15	63942085	63942085	G	T	HERC1	c.10586C>A	NM_003922.4	NP_003913.3:p.(Ser3529Tyr)	NC_000015.9:g.63942085G>T	VUS	1 lab	63e70bdcbc
X:21674394 KLHL34 C>A	X	21674394	21674394	C	A	KLHL34	c.1513G>T	NM_153270.3	NP_695002.1:p.(Val505Phe)	NC_000023.10:g.21674394C>A	(Likely) benign	1 lab	63e7e362ac
17:40113477 ODAD4 C>T	17	40113477	40113477	C	T	ODAD4	c.1521C>T	NM_031421.5	NP_113609.1:p.(Ser507=)	NC_000017.10:g.40113477C>T	(Likely) benign	1 lab	63e7eb5ebf
4:5566983 EVC2 A>G	4	5566983	5566983	A	G	EVC2	c.3659+2T>C	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5566983A>G	(Likely) pathogenic	1 lab	63e7fff79c
6:152639400 SYNE1 T>G	6	152639400	152639400	T	G	SYNE1	c.16390-2A>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152639400T>G	VUS	1 lab	63e8cccccc
2:179419672 TTN C>T	2	179419672	179419672	C	T	TTN	c.88514G>A	NM_001267550.2	NP_001254479.2:p.(Arg29505His)	NC_000002.11:g.179419672C>T	VUS	1 lab	63e8d36859
3:38926850 SCN11A T>C	3	38926850	38926850	T	C	SCN11A	c.2993A>G	NM_001349253.2	NP_001336182.1:p.(Asp998Gly)	NC_000003.11:g.38926850T>C	(Likely) benign	1 lab	63edebda24
16:79245556 WWOX G>A	16	79245556	79245556	G	A	WWOX	c.1108G>A	NM_016373.4	NP_057457.1:p.(Gly370Ser)	NC_000016.9:g.79245556G>A	(Likely) benign	1 lab	63eeb79718
9:35805897 NPR2 C>T	9	35805897	35805897	C	T	NPR2	c.2118C>T	NM_003995.4	NP_003986.2:p.(Asp706=)	NC_000009.11:g.35805897C>T	(Likely) benign	1 lab	63f0797532
17:56809843 RAD51C A>T	17	56809843	56809843	A	T	RAD51C	c.966-2A>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56809843A>T	(Likely) pathogenic	1 lab	21a5ed7380
15:63950764 HERC1 G>A	15	63950764	63950764	G	A	HERC1	c.9578C>T	NM_003922.4	NP_003913.3:p.(Ala3193Val)	NC_000015.9:g.63950764G>A	VUS	1 lab	63f754d432
17:39186315 KRTAP1-4 T>G	17	39186315	39186315	T	G	KRTAP1-4	c.16A>C	NM_001257305.2	NP_001244234.1:p.(Thr6Pro)	NC_000017.10:g.39186315T>G	VUS	1 lab	63f77ed5c3
19:21719685 ZNF429 G>T	19	21719685	21719685	G	T	ZNF429	c.830G>T	NM_001001415.4	NP_001001415.2:p.(Arg277Ile)	NC_000019.9:g.21719685G>T	(Likely) benign	1 lab	63f7fb2aaa
10:103360623 DPCD C>T	10	103360623	103360623	C	T	DPCD	c.270+4C>T	NM_015448.3	NP_056263.1:p.?	NC_000010.10:g.103360623C>T	(Likely) benign	1 lab	63f821d881
7:103202398 RELN G>A	7	103202398	103202398	G	A	RELN	c.5213C>T	NM_005045.4	NP_005036.2:p.(Ser1738Phe)	NC_000007.13:g.103202398G>A	(Likely) benign	1 lab	63f86c104c
14:102482412 DYNC1H1 C>T	14	102482412	102482412	C	T	DYNC1H1	c.7462C>T	NM_001376.5	NP_001367.2:p.(Arg2488Cys)	NC_000014.8:g.102482412C>T	VUS	1 lab	63f8fc6e65
9:131355251 SPTAN1 C>G	9	131355251	131355251	C	G	SPTAN1	c.3156-11C>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131355251C>G	VUS	1 lab	63fa20e06e
12:56090189 ITGA7 T>G	12	56090189	56090189	T	G	ITGA7	c.1765A>C	NM_002206.3	NP_002197.2:p.(Ile589Leu)	NC_000012.11:g.56090189T>G	VUS	1 lab	63fb96d960
11:838115 CD151 A>G	11	838115	838115	A	G	CD151	c.703-18A>G	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.838115A>G	(Likely) benign	1 lab	22ae9a06e8
2:130913600 SMPD4 A>C	2	130913600	130913600	A	C	SMPD4	c.1289+8T>G	NM_017951.5	NP_060421.3:p.?	NC_000002.11:g.130913600A>C	(Likely) benign	1 lab	63fdbd6ab1
12:58142004 CDK4 T>TA	12	58142004	58142018	T	TA	CDK4	c.*303dup	NM_000075.4	NP_000066.1:p.?	NC_000012.11:g.58142018dup	(Likely) benign	1 lab	63fe46c6ca
2:210795743 UNC80 C>T	2	210795743	210795743	C	T	UNC80	c.5959C>T	NM_001371986.1	NP_001358915.1:p.(Pro1987Ser)	NC_000002.11:g.210795743C>T	VUS	1 lab	63fe83eff4
3:151056174 P2RY12 A>G	3	151056174	151056174	A	G	P2RY12	c.460T>C	NM_022788.4	NP_073625.1:p.(Leu154=)	NC_000003.11:g.151056174A>G	(Likely) benign	1 lab	22aef5d31e
1:3740104 CEP104 G>A	1	3740104	3740104	G	A	CEP104	c.2387C>T	NM_014704.4	NP_055519.1:p.(Thr796Met)	NC_000001.10:g.3740104G>A	VUS	1 lab	6401fa16e2
12:7053044 ATN1 T>C	12	7053044	7053044	T	C	ATN1				NC_000012.11:g.7053044T>C	(Likely) benign	1 lab	21a881a740
7:155595709 SHH C>A	7	155595709	155595709	C	A	SHH	c.1274G>T	NM_000193.4	NP_000184.1:p.(Gly425Val)	NC_000007.13:g.155595709C>A	VUS	1 lab	6403c06c83
12:49431304 KMT2D G>GCTGCTC	12	49431304	49431305	G	GCTGCTC	KMT2D	c.9834_9835insGAGCAG	NM_003482.4	NP_003473.3:p.(Gln3278_Gln3279insGluGln)	NC_000012.11:g.49431304_49431305insCTGCTC	VUS	1 lab	64047ec084
16:88805002 PIEZO1 A>G	16	88805002	88805002	A	G	PIEZO1	c.608T>C	NM_001142864.4	NP_001136336.2:p.(Leu203Pro)	NC_000016.9:g.88805002A>G	VUS	1 lab	6404dec60d
X:140994147 MAGEC1 C>A	X	140994147	140994147	C	A	MAGEC1	c.957C>A	NM_005462.5	NP_005453.2:p.(Phe319Leu)	NC_000023.10:g.140994147C>A	VUS	1 lab	640549376a
15:31373646 TRPM1 G>C	15	31373646	31373646	G	C	TRPM1	c.-83-5C>G	NM_001252024.2	NP_001238953.1:p.?	NC_000015.9:g.31373646G>C	(Likely) benign	1 lab	6405e70113
1:45293853 PTCH2 C>A	1	45293853	45293853	C	A	PTCH2	c.1720G>T	NM_003738.5	NP_003729.3:p.(Ala574Ser)	NC_000001.10:g.45293853C>A	(Likely) benign	1 lab	6406419085
16:87637893 JPH3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	16	87637893	87637935	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	JPH3	c.382+766_382+801dup	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87637900_87637935dup	(Likely) benign	1 lab	640658624e
X:107938129 COL4A5 G>C	X	107938129	107938129	G	C	COL4A5	c.4781G>C	NM_000495.5	NP_000486.1:p.(Trp1594Ser)	NC_000023.10:g.107938129G>C	VUS	1 lab	22b3d09adf
17:61995188 GH1 CG>C	17	61995188	61995189	CG	C	GH1	c.387del	NM_000515.5	NP_000506.2:p.(Tyr129Ter)	NC_000017.10:g.61995189del	(Likely) pathogenic	1 lab	64080f7753
19:45284627 CBLC G>A	19	45284627	45284627	G	A	CBLC	c.657+7G>A	NM_012116.4	NP_036248.3:p.?	NC_000019.9:g.45284627G>A	(Likely) benign	1 lab	640a394a8e
5:178413417 GRM6 G>A	5	178413417	178413417	G	A	GRM6	c.1838C>T	NM_000843.4	NP_000834.2:p.(Thr613Met)	NC_000005.9:g.178413417G>A	VUS	1 lab	640a6f9168
2:228197307 MFF A>AGC	2	228197307	228197308	A	AGC	MFF	c.351+3_351+4insGC	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228197307_228197308insGC	VUS	1 lab	640b39542d
15:99459354 IGF1R T>C	15	99459354	99459354	T	C	IGF1R	c.1990T>C	NM_000875.5	NP_000866.1:p.(Ser664Pro)	NC_000015.9:g.99459354T>C	(Likely) benign	1 lab	640cb972de
15:21066457 POTEB2 C>T	15	21066457	21066457	C	T	POTEB2	c.613G>A	NM_001277303.1	NP_001264232.1:p.(Ala205Thr)	NC_000015.9:g.21066457C>T	(Likely) benign	1 lab	640d14f4f7
12:121437091 HNF1A G>A	12	121437091	121437091	G	A	HNF1A	c.1522G>A	NM_000545.8	NP_000536.6:p.(Glu508Lys)	NC_000012.11:g.121437091G>A	(Likely) pathogenic	1 lab	640e05b3a0
3:183960404 ALG3 G>A	3	183960404	183960404	G	A	ALG3	c.1215C>T	NM_005787.6	NP_005778.1:p.(Ser405=)	NC_000003.11:g.183960404G>A	(Likely) benign	1 lab	640e095d07
4:79402982 FRAS1 G>A	4	79402982	79402982	G	A	FRAS1	c.8468G>A	NM_025074.7	NP_079350.5:p.(Arg2823His)	NC_000004.11:g.79402982G>A	VUS	1 lab	640eb1369f
1:16256186 SPEN C>A	1	16256186	16256186	C	A	SPEN	c.3451C>A	NM_015001.3	NP_055816.2:p.(His1151Asn)	NC_000001.10:g.16256186C>A	(Likely) benign	1 lab	640ec8bd55
11:61546700 MYRF TTGGCCCATGGCCCA>T	11	61546700	61546732	TTGGCCCATGGCCCA	T	MYRF	c.2014-16_2014-3del	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61546719_61546732del	(Likely) benign	1 lab	640f02f5ff
1:12024350 PLOD1 C>T	1	12024350	12024350	C	T	PLOD1	c.1321C>T	NM_000302.4	NP_000293.2:p.(Arg441Trp)	NC_000001.10:g.12024350C>T	VUS	1 lab	641068fc25
9:131397968 DYNC2I2 G>A	9	131397968	131397968	G	A	DYNC2I2	c.782C>T	NM_052844.4	NP_443076.2:p.(Thr261Met)	NC_000009.11:g.131397968G>A	VUS	1 lab	64106f63aa
17:11607686 DNAH9 G>A	17	11607686	11607686	G	A	DNAH9	c.5318G>A	NM_001372.4	NP_001363.2:p.(Arg1773Gln)	NC_000017.10:g.11607686G>A	VUS	1 lab	6411c0eda7
10:73375281 CDH23 G>C	10	73375281	73375281	G	C	CDH23	c.853G>C	NM_022124.6	NP_071407.4:p.(Ala285Pro)	NC_000010.10:g.73375281G>C	VUS	1 lab	6413f9f692
4:6595004 MAN2B2 A>G	4	6595004	6595004	A	G	MAN2B2	c.785A>G	NM_015274.3	NP_056089.1:p.(Tyr262Cys)	NC_000004.11:g.6595004A>G	VUS	1 lab	6415e4113f
6:112455671 LAMA4 G>T	6	112455671	112455671	G	T	LAMA4	c.3534C>A	NM_002290.5	NP_002281.3:p.(Ser1178=)	NC_000006.11:g.112455671G>T	(Likely) benign	1 lab	21ab66634d
11:108002652 ACAT1 C>T	11	108002652	108002652	C	T	ACAT1	c.91C>T	NM_000019.4	NP_000010.1:p.(Arg31Trp)	NC_000011.9:g.108002652C>T	VUS	1 lab	6419adc2be
22:51065339 ARSA A>G	22	51065339	51065339	A	G	ARSA	c.607T>C	NM_000487.6	NP_000478.3:p.(Tyr203His)	NC_000022.10:g.51065339A>G	(Likely) pathogenic	1 lab	22b7660f73
17:16075275 NCOR1 G>C	17	16075275	16075275	G	C	NCOR1	c.277C>G	NM_006311.4	NP_006302.2:p.(His93Asp)	NC_000017.10:g.16075275G>C	VUS	1 lab	641c76d74a
4:1803715 FGFR3 T>G	4	1803715	1803715	T	G	FGFR3	c.893T>G	NM_000142.5	NP_000133.1:p.(Val298Gly)	NC_000004.11:g.1803715T>G	VUS	1 lab	641ce73b8d
11:27016360 FIBIN G>A	11	27016360	27016360	G	A	FIBIN	c.287G>A	NM_203371.2	NP_976249.1:p.(Arg96His)	NC_000011.9:g.27016360G>A	VUS	1 lab	641d70efb1
5:94877003 SKIC3 A>C	5	94877003	94877003	A	C	SKIC3	c.402+6T>G	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94877003A>C	(Likely) benign	1 lab	641d7a6047
3:9970252 IL17RC C>T	3	9970252	9970252	C	T	IL17RC	c.1273-12C>T	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9970252C>T	(Likely) benign	1 lab	22b895f7e3
14:30102160 PRKD1 A>G	14	30102160	30102160	A	G	PRKD1	c.1315-8T>C	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30102160A>G	(Likely) benign	1 lab	641e3a4ca4
9:2047318 SMARCA2 G>A	9	2047318	2047318	G	A	SMARCA2	c.880G>A	NM_003070.5	NP_003061.3:p.(Ala294Thr)	NC_000009.11:g.2047318G>A	VUS	1 lab	641e4fa32d
16:89260326 CDH15 G>A	16	89260326	89260326	G	A	CDH15	c.2151+5G>A	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89260326G>A	VUS	1 lab	641e55a662
3:13417787 NUP210 T>A	3	13417787	13417787	T	A	NUP210	c.1293+4A>T	NM_024923.4	NP_079199.2:p.?	NC_000003.11:g.13417787T>A	VUS	1 lab	641f810e44
9:138677931 KCNT1 C>G	9	138677931	138677931	C	G	KCNT1	c.3178-112C>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677931C>G	(Likely) benign	1 lab	22b9e1a607
17:39464591 KRTAP16-1 G>A	17	39464591	39464591	G	A	KRTAP16-1	c.915C>T	NM_001146182.2	NP_001139654.1:p.(Val305=)	NC_000017.10:g.39464591G>A	(Likely) benign	1 lab	6422692e2a
3:134266187 CEP63 G>T	3	134266187	134266187	G	T	CEP63	c.940G>T	NM_001353108.3	NP_001340037.1:p.(Glu314Ter)	NC_000003.11:g.134266187G>T	(Likely) pathogenic	1 lab	6422ac13e9
5:65892658 MAST4 A>G	5	65892658	65892658	A	G	MAST4	c.175A>G	NM_001164664.2	NP_001158136.1:p.(Arg59Gly)	NC_000005.9:g.65892658A>G	(Likely) benign	1 lab	6422b289ee
1:35454290 ZMYM6 T>G	1	35454290	35454290	T	G	ZMYM6	c.2393A>C	NM_007167.4	NP_009098.3:p.(Asn798Thr)	NC_000001.10:g.35454290T>G	VUS	1 lab	6423473dee
7:45954465 IGFBP3 G>A	7	45954465	45954465	G	A	IGFBP3	c.830C>T	NM_000598.5	NP_000589.2:p.(Thr277Ile)	NC_000007.13:g.45954465G>A	(Likely) benign	1 lab	6425eaa0d5
11:17483260 ABCC8 C>G	11	17483260	17483260	C	G	ABCC8	c.692G>C	NM_000352.6	NP_000343.2:p.(Trp231Ser)	NC_000011.9:g.17483260C>G	VUS	1 lab	642671c841
19:15272005 NOTCH3 C>T	19	15272005	15272005	C	T	NOTCH3	c.6434G>A	NM_000435.3	NP_000426.2:p.(Arg2145Gln)	NC_000019.9:g.15272005C>T	(Likely) benign	1 lab	6427154985
2:105472812 POU3F3 C>G	2	105472812	105472812	C	G	POU3F3	c.844C>G	NM_006236.3	NP_006227.1:p.(Pro282Ala)	NC_000002.11:g.105472812C>G	VUS	1 lab	6429340c3b
9:35802584 NPR2 T>C	9	35802584	35802584	T	C	NPR2	c.1795T>C	NM_003995.4	NP_003986.2:p.(Cys599Arg)	NC_000009.11:g.35802584T>C	VUS	1 lab	642a60ee32
17:40354835 STAT5B G>A	17	40354835	40354835	G	A	STAT5B	c.2078-9C>T	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40354835G>A	(Likely) benign	1 lab	642c7c1a1a
7:40133743 CDK13 A>T	7	40133743	40133743	A	T	CDK13	c.3703A>T	NM_003718.5	NP_003709.3:p.(Ile1235Phe)	NC_000007.13:g.40133743A>T	(Likely) benign	1 lab	642c82947f
3:48491477 ATRIP G>A	3	48491477	48491477	G	A	ATRIP	c.282G>A	NM_130384.3	NP_569055.1:p.(Met94Ile)	NC_000003.11:g.48491477G>A	VUS	1 lab	642d367331
2:220427274 OBSL1 C>T	2	220427274	220427274	C	T	OBSL1	c.2803G>A	NM_015311.3	NP_056126.1:p.(Gly935Arg)	NC_000002.11:g.220427274C>T	VUS	1 lab	642edfc99b
14:103369616 TRAF3 A>G	14	103369616	103369616	A	G	TRAF3	c.985A>G	NM_145725.3	NP_663777.1:p.(Lys329Glu)	NC_000014.8:g.103369616A>G	VUS	1 lab	21ad9a2367
X:3241246 MXRA5 G>C	X	3241246	3241246	G	C	MXRA5	c.2480C>G	NM_015419.4	NP_056234.2:p.(Pro827Arg)	NC_000023.10:g.3241246G>C	(Likely) benign	1 lab	6431e2fd28
2:208989085 CRYGD G>C	2	208989085	208989085	G	C	CRYGD	c.10-7C>G	NM_006891.4	NP_008822.2:p.?	NC_000002.11:g.208989085G>C	(Likely) benign	1 lab	6435756cae
X:114425490 RBMXL3 G>A	X	114425490	114425490	G	A	RBMXL3	c.1486G>A	NM_001145346.2	NP_001138818.1:p.(Asp496Asn)	NC_000023.10:g.114425490G>A	(Likely) benign	1 lab	64361458e2
X:8997440 FAM9B G>A	X	8997440	8997440	G	A	FAM9B	c.301C>T	NM_205849.3	NP_995321.1:p.(His101Tyr)	NC_000023.10:g.8997440G>A	(Likely) benign	1 lab	64374ce124
1:155581990 MSTO1 TG>T	1	155581990	155581991	TG	T	MSTO1	c.697del	NM_018116.4	NP_060586.2:p.(Asp233ThrfsTer9)	NC_000001.10:g.155581991del	(Likely) pathogenic	1 lab	6438fbae4b
18:57122186 CCBE1 G>A	18	57122186	57122186	G	A	CCBE1	c.554-3C>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57122186G>A	(Likely) benign	1 lab	64390369ee
11:71943665 INPPL1 C>T	11	71943665	71943665	C	T	INPPL1	c.1713-5C>T	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71943665C>T	(Likely) benign	1 lab	6439370893
12:105622919 APPL2 C>T	12	105622919	105622919	C	T	APPL2	c.137G>A	NM_018171.5	NP_060641.2:p.(Arg46His)	NC_000012.11:g.105622919C>T	VUS	1 lab	6439b87bf2
12:6442944 TNFRSF1A T>A	12	6442944	6442944	T	A	TNFRSF1A	c.281A>T	NM_001065.3	NP_001056.1:p.(Asn94Ile)	NC_000012.11:g.6442944T>A	(Likely) pathogenic	1 lab	22bbecb46b
1:10421075 KIF1B T>G	1	10421075	10421075	T	G	KIF1B	c.4006T>G	NM_015074.3	NP_055889.2:p.(Tyr1336Asp)	NC_000001.10:g.10421075T>G	VUS	1 lab	21b01053d3
16:68718611 CDH3 G>C	16	68718611	68718611	G	C	CDH3	c.1308G>C	NM_001793.6	NP_001784.2:p.(Glu436Asp)	NC_000016.9:g.68718611G>C	VUS	1 lab	643e7bc9e2
17:60088281 MED13 G>A	17	60088281	60088281	G	A	MED13	c.1597C>T	NM_005121.3	NP_005112.2:p.(Pro533Ser)	NC_000017.10:g.60088281G>A	(Likely) benign	1 lab	643ece3cd9
3:25654166 TOP2B G>A	3	25654166	25654166	G	A	TOP2B	c.3626C>T	NM_001330700.2	NP_001317629.1:p.(Ala1209Val)	NC_000003.11:g.25654166G>A	(Likely) benign	1 lab	643fb19215
X:27766231 DCAF8L2 G>C	X	27766231	27766231	G	C	DCAF8L2	c.1219G>C	NM_001353450.2	NP_001340379.1:p.(Val407Leu)	NC_000023.10:g.27766231G>C	VUS	1 lab	643fe77bac
1:209965781 IRF6 A>G	1	209965781	209965781	A	G	IRF6	c.509-9T>C	NM_006147.4	NP_006138.1:p.?	NC_000001.10:g.209965781A>G	(Likely) benign	1 lab	644088193a
16:30740806 SRCAP C>T	16	30740806	30740806	C	T	SRCAP	c.6040C>T	NM_006662.3	NP_006653.2:p.(Leu2014Phe)	NC_000016.9:g.30740806C>T	(Likely) benign	1 lab	6441499248
12:57562939 LRP1 C>A	12	57562939	57562939	C	A	LRP1	c.3012C>A	NM_002332.3	NP_002323.2:p.(Asp1004Glu)	NC_000012.11:g.57562939C>A	VUS	1 lab	6441b2a640
9:138662099 KCNT1 C>T	9	138662099	138662099	C	T	KCNT1	c.1620-45C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662099C>T	(Likely) benign	1 lab	22bc9ebaae
X:140994427 MAGEC1 A>C	X	140994427	140994427	A	C	MAGEC1	c.1237A>C	NM_005462.5	NP_005453.2:p.(Thr413Pro)	NC_000023.10:g.140994427A>C	VUS	1 lab	6444e79843
17:46622123 HOXB2 G>C	17	46622123	46622123	G	C	HOXB2	c.151C>G	NM_002145.4	NP_002136.1:p.(Gln51Glu)	NC_000017.10:g.46622123G>C	VUS	1 lab	64464b5d6f
2:25523009 DNMT3A G>A	2	25523009	25523009	G	A	DNMT3A	c.176C>T	NM_022552.5	NP_072046.2:p.(Pro59Leu)	NC_000002.11:g.25523009G>A	(Likely) benign	1 lab	6447b78ac3
X:70836547 CXCR3 C>T	X	70836547	70836547	C	T	CXCR3	c.775G>A	NM_001504.2	NP_001495.1:p.(Val259Met)	NC_000023.10:g.70836547C>T	VUS	1 lab	644855a706
5:179004101 RUFY1 A>C	5	179004101	179004101	A	C	RUFY1	c.854A>C	NM_025158.5	NP_079434.3:p.(Tyr285Ser)	NC_000005.9:g.179004101A>C	VUS	1 lab	644885124c
13:101784813 NALCN T>C	13	101784813	101784813	T	C	NALCN	c.2119-7781A>G	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101784813T>C	(Likely) benign	1 lab	6449c26e38
4:6279274 WFS1 C>G	4	6279274	6279274	C	G	WFS1	c.92C>G	NM_006005.3	NP_005996.2:p.(Ala31Gly)	NC_000004.11:g.6279274C>G	VUS	1 lab	644c882e86
22:41257393 XPNPEP3 C>A	22	41257393	41257393	C	A	XPNPEP3	c.64+4144C>A	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41257393C>A	(Likely) benign	1 lab	645047702a
8:144893445 SCRIB G>A	8	144893445	144893445	G	A	SCRIB	c.977C>T	NM_182706.5	NP_874365.3:p.(Ala326Val)	NC_000008.10:g.144893445G>A	(Likely) benign	1 lab	6451219d1d
11:63987031 FERMT3 G>C	11	63987031	63987031	G	C	FERMT3	c.930G>C	NM_031471.6	NP_113659.3:p.(Val310=)	NC_000011.9:g.63987031G>C	(Likely) benign	1 lab	6451f1cb7e
19:15272206 NOTCH3 C>T	19	15272206	15272206	C	T	NOTCH3	c.6233G>A	NM_000435.3	NP_000426.2:p.(Arg2078Gln)	NC_000019.9:g.15272206C>T	VUS	1 lab	6452a5d90b
22:51064017 ARSA G>A	22	51064017	51064017	G	A	ARSA	c.1200C>T	NM_000487.6	NP_000478.3:p.(Phe400=)	NC_000022.10:g.51064017G>A	VUS	1 lab	22bd5c9422
4:119234391 PRSS12 C>T	4	119234391	119234391	C	T	PRSS12	c.1454G>A	NM_003619.4	NP_003610.2:p.(Cys485Tyr)	NC_000004.11:g.119234391C>T	VUS	1 lab	6454bfdfe2
11:66618678 PC T>C	11	66618678	66618678	T	C	PC	c.2056A>G	NM_001040716.2	NP_001035806.1:p.(Met686Val)	NC_000011.9:g.66618678T>C	VUS	1 lab	64579e6fb5
16:70512518 FCSK G>A	16	70512518	70512518	G	A	FCSK	c.2894G>A	NM_145059.3	NP_659496.2:p.(Arg965Gln)	NC_000016.9:g.70512518G>A	(Likely) benign	1 lab	6457e40f45
1:152287809 FLG G>A	1	152287809	152287809	G	A	FLG	c.124C>T	NM_002016.2	NP_002007.1:p.(Arg42Trp)	NC_000001.10:g.152287809G>A	(Likely) benign	1 lab	6458a673d7
12:115120813 TBX3 T>C	12	115120813	115120813	T	C	TBX3	c.193A>G	NM_005996.4	NP_005987.3:p.(Met65Val)	NC_000012.11:g.115120813T>C	VUS	1 lab	645900ebf8
5:126140565 LMNB1 C>G	5	126140565	126140565	C	G	LMNB1	c.457C>G	NM_005573.4	NP_005564.1:p.(Leu153Val)	NC_000005.9:g.126140565C>G	VUS	1 lab	645c92776f
6:117241516 RFX6 T>C	6	117241516	117241516	T	C	RFX6	c.1226T>C	NM_173560.4	NP_775831.2:p.(Met409Thr)	NC_000006.11:g.117241516T>C	VUS	1 lab	645e0fb077
4:3189355 HTT CTTATGTA>C	4	3189355	3189368	CTTATGTA	C	HTT	c.4990-16_4990-10del	NM_001388492.1	NP_001375421.1:p.?	NC_000004.11:g.3189362_3189368del	VUS	1 lab	645e9fd5e4
17:4794413 MINK1 G>A	17	4794413	4794413	G	A	MINK1	c.1734G>A	NM_153827.5	NP_722549.2:p.(Pro578=)	NC_000017.10:g.4794413G>A	(Likely) benign	1 lab	64606c19e2
9:711955 KANK1 G>T	9	711955	711955	G	T	KANK1	c.1189G>T	NM_015158.5	NP_055973.2:p.(Glu397Ter)	NC_000009.11:g.711955G>T	VUS	1 lab	64631bd321
16:2815869 SRRM2 GAA>G	16	2815869	2815873	GAA	G	SRRM2	c.5343_5344del	NM_016333.4	NP_057417.3:p.(Lys1781AsnfsTer9)	NC_000016.9:g.2815872_2815873del	(Likely) pathogenic	1 lab	6463408f9a
19:13226276 TRMT1 C>T	19	13226276	13226276	C	T	TRMT1	c.458G>A	NM_001136035.4	NP_001129507.1:p.(Gly153Asp)	NC_000019.9:g.13226276C>T	VUS	1 lab	646733ea5a
1:119427941 TBX15 G>A	1	119427941	119427941	G	A	TBX15	c.1223C>T	NM_001330677.2	NP_001317606.1:p.(Ala408Val)	NC_000001.10:g.119427941G>A	VUS	1 lab	64676f78bd
4:1959258 NSD2 G>A	4	1959258	1959258	G	A	NSD2	c.2882-402G>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1959258G>A	(Likely) benign	1 lab	64682206fd
7:103243788 RELN C>T	7	103243788	103243788	C	T	RELN	c.3296G>A	NM_005045.4	NP_005036.2:p.(Gly1099Asp)	NC_000007.13:g.103243788C>T	VUS	1 lab	646927de6b
13:23910076 SACS T>C	13	23910076	23910076	T	C	SACS	c.7939A>G	NM_014363.6	NP_055178.3:p.(Ile2647Val)	NC_000013.10:g.23910076T>C	VUS	1 lab	64698ef628
7:1785692 ELFN1 C>T	7	1785692	1785692	C	T	ELFN1	c.1460C>T	NM_001128636.4	NP_001122108.1:p.(Pro487Leu)	NC_000007.13:g.1785692C>T	(Likely) benign	1 lab	6469a4d329
4:108871407 CYP2U1 G>A	4	108871407	108871407	G	A	CYP2U1	c.1463G>A	NM_183075.3	NP_898898.1:p.(Arg488Gln)	NC_000004.11:g.108871407G>A	VUS	1 lab	6469f23c6e
1:36354221 AGO1 G>A	1	36354221	36354221	G	A	AGO1	c.209+10G>A	NM_012199.5	NP_036331.1:p.?	NC_000001.10:g.36354221G>A	(Likely) benign	1 lab	646abaa816
16:84135260 MBTPS1 C>G	16	84135260	84135260	C	G	MBTPS1	c.129G>C	NM_003791.4	NP_003782.1:p.(Leu43Phe)	NC_000016.9:g.84135260C>G	VUS	1 lab	646b4bdcf1
5:149512515 PDGFRB G>T	5	149512515	149512515	G	T	PDGFRB	c.935-10C>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149512515G>T	VUS	1 lab	646be20a5e
8:11615980 GATA4 C>T	8	11615980	11615980	C	T	GATA4	c.1328C>T	NM_001308093.3	NP_001295022.1:p.(Ala443Val)	NC_000008.10:g.11615980C>T	(Likely) benign	1 lab	646c65159c
10:14909116 HSPA14 A>G	10	14909116	14909116	A	G	HSPA14	c.1028A>G	NM_016299.4	NP_057383.2:p.(Lys343Arg)	NC_000010.10:g.14909116A>G	(Likely) benign	1 lab	646d856348
6:107100369 QRSL1 A>T	6	107100369	107100369	A	T	QRSL1	c.761A>T	NM_018292.5	NP_060762.3:p.(Asp254Val)	NC_000006.11:g.107100369A>T	VUS	1 lab	646da29164
11:640090 DRD4 G>C	11	640090	640090	G	C	DRD4	c.841G>C	NM_000797.4	NP_000788.2:p.(Ala281Pro)	NC_000011.9:g.640090G>C	VUS	1 lab	646dac10e3
X:130411922 IGSF1 T>A	X	130411922	130411922	T	A	IGSF1	c.2228A>T	NM_001555.5	NP_001546.2:p.(Lys743Ile)	NC_000023.10:g.130411922T>A	VUS	1 lab	646dc9fadc
17:78021198 CCDC40 C>G	17	78021198	78021198	C	G	CCDC40	c.673C>G	NM_017950.4	NP_060420.2:p.(Pro225Ala)	NC_000017.10:g.78021198C>G	VUS	1 lab	646f7d8d84
1:145281545 NOTCH2NLA T>C	1	145281545	145281545	T	C	NOTCH2NLA	c.475T>C	NM_203458.6	NP_982283.2:p.(Cys159Arg)	NC_000001.10:g.145281545T>C	VUS	1 lab	64722b3916
6:168440753 KIF25 G>A	6	168440753	168440753	G	A	KIF25	c.503G>A	NM_030615.4	NP_085118.2:p.(Gly168Asp)	NC_000006.11:g.168440753G>A	(Likely) benign	1 lab	6472f99afa
15:43299486 UBR1 C>T	15	43299486	43299486	C	T	UBR1	c.3210-4G>A	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43299486C>T	VUS	1 lab	64733acbfe
11:71155194 DHCR7 A>T	11	71155194	71155194	A	T	DHCR7	c.166T>A	NM_001360.3	NP_001351.2:p.(Tyr56Asn)	NC_000011.9:g.71155194A>T	VUS	1 lab	647415b506
5:177035980 B4GALT7 A>G	5	177035980	177035980	A	G	B4GALT7	c.793A>G	NM_007255.3	NP_009186.1:p.(Lys265Glu)	NC_000005.9:g.177035980A>G	VUS	1 lab	6475d0bb54
13:115086580 CHAMP1 T>C	13	115086580	115086580	T	C	CHAMP1	c.-178-5T>C	NM_032436.4	NP_115812.1:p.?	NC_000013.10:g.115086580T>C	(Likely) benign	1 lab	6476f6ec81
21:47821621 PCNT C>T	21	47821621	47821621	C	T	PCNT	c.4948C>T	NM_006031.6	NP_006022.3:p.(Arg1650Trp)	NC_000021.8:g.47821621C>T	(Likely) benign	1 lab	647796cc4b
4:128854139 MFSD8 C>T	4	128854139	128854139	C	T	MFSD8	c.863+1G>A	NM_001371596.2	NP_001358525.1:p.?	NC_000004.11:g.128854139C>T	(Likely) pathogenic	1 lab	647846f15e
8:19263348 CSGALNACT1 G>A	8	19263348	19263348	G	A	CSGALNACT1	c.1542C>T	NM_001354483.2	NP_001341412.1:p.(His514=)	NC_000008.10:g.19263348G>A	(Likely) benign	1 lab	6479a157aa
14:31765126 HEATR5A T>C	14	31765126	31765126	T	C	HEATR5A	c.5608A>G	NM_015473.4	NP_056288.2:p.(Lys1870Glu)	NC_000014.8:g.31765126T>C	(Likely) benign	1 lab	647bd1ec5b
4:6302864 WFS1 A>G	4	6302864	6302864	A	G	WFS1	c.1342A>G	NM_006005.3	NP_005996.2:p.(Ser448Gly)	NC_000004.11:g.6302864A>G	VUS	1 lab	647c32b353
12:26275099 BHLHE41 T>C	12	26275099	26275099	T	C	BHLHE41	c.1349A>G	NM_030762.3	NP_110389.1:p.(His450Arg)	NC_000012.11:g.26275099T>C	(Likely) benign	1 lab	647d615737
3:58155343 FLNB G>C	3	58155343	58155343	G	C	FLNB	c.7444G>C	NM_001457.4	NP_001448.2:p.(Ala2482Pro)	NC_000003.11:g.58155343G>C	(Likely) benign	1 lab	648086c089
9:5765465 RIC1 A>G	9	5765465	5765465	A	G	RIC1	c.2893A>G	NM_020829.4	NP_065880.2:p.(Thr965Ala)	NC_000009.11:g.5765465A>G	VUS	1 lab	6480bae4ab
9:101552462 ANKS6 G>A	9	101552462	101552462	G	A	ANKS6	c.786C>T	NM_173551.5	NP_775822.3:p.(Phe262=)	NC_000009.11:g.101552462G>A	(Likely) benign	1 lab	22bd8645f3
6:31937442 SKIC2 A>G	6	31937442	31937442	A	G	SKIC2	c.3691A>G	NM_006929.5	NP_008860.4:p.(Thr1231Ala)	NC_000006.11:g.31937442A>G	(Likely) benign	1 lab	6481719945
1:236703971 LGALS8 T>G	1	236703971	236703971	T	G	LGALS8	c.453T>G	NM_201544.4	NP_963838.1:p.(Phe151Leu)	NC_000001.10:g.236703971T>G	(Likely) benign	1 lab	6481f938b3
1:201168480 IGFN1 G>A	1	201168480	201168480	G	A	IGFN1	c.386G>A	NM_001164586.2	NP_001158058.1:p.(Arg129Gln)	NC_000001.10:g.201168480G>A	(Likely) benign	1 lab	6482951db0
3:150845679 MED12L G>A	3	150845679	150845679	G	A	MED12L	c.464G>A	NM_001393769.1	NP_001380698.1:p.(Arg155Gln)	NC_000003.11:g.150845679G>A	VUS	1 lab	6483f50206
7:103175928 RELN A>G	7	103175928	103175928	A	G	RELN	c.7184T>C	NM_005045.4	NP_005036.2:p.(Ile2395Thr)	NC_000007.13:g.103175928A>G	VUS	1 lab	648693461c
9:96438998 PHF2 T>TACCACCCCTGCCTCC	9	96438998	96439007	T	TACCACCCCTGCCTCC	PHF2	c.2963_2964insTGCCTCCACCACCCC	NM_005392.4	NP_005383.3:p.(Thr992_Thr996dup)	NC_000009.11:g.96439006_96439007insTGCCTCCACCACCCC	VUS	1 lab	64878469e9
15:42703124 CAPN3 G>A	15	42703124	42703124	G	A	CAPN3	c.2306G>A	NM_000070.3	NP_000061.1:p.(Arg769Gln)	NC_000015.9:g.42703124G>A	(Likely) pathogenic	1 lab	6488ce857d
3:49760036 GMPPB C>T	3	49760036	49760036	C	T	GMPPB	c.554G>A	NM_021971.4	NP_068806.2:p.(Arg185His)	NC_000003.11:g.49760036C>T	VUS	1 lab	6488e55b53
15:43340622 UBR1 G>A	15	43340622	43340622	G	A	UBR1	c.1507C>T	NM_174916.3	NP_777576.1:p.(Arg503Ter)	NC_000015.9:g.43340622G>A	(Likely) pathogenic	1 lab	22bd88e8c1
1:22155909 HSPG2 C>T	1	22155909	22155909	C	T	HSPG2	c.11959G>A	NM_005529.7	NP_005520.4:p.(Gly3987Ser)	NC_000001.10:g.22155909C>T	(Likely) benign	1 lab	648a8d2fe6
1:32158728 COL16A1 C>T	1	32158728	32158728	C	T	COL16A1	c.1036G>A	NM_001856.4	NP_001847.3:p.(Gly346Ser)	NC_000001.10:g.32158728C>T	VUS	1 lab	648cea3023
X:152034477 NSDHL A>G	X	152034477	152034477	A	G	NSDHL	c.658A>G	NM_015922.3	NP_057006.1:p.(Arg220Gly)	NC_000023.10:g.152034477A>G	(Likely) benign	1 lab	648fbaf556
1:16203171 SPEN C>G	1	16203171	16203171	C	G	SPEN	c.879C>G	NM_015001.3	NP_055816.2:p.(Asp293Glu)	NC_000001.10:g.16203171C>G	(Likely) benign	1 lab	64915833d7
22:45959078 FBLN1 C>G	22	45959078	45959078	C	G	FBLN1	c.1698-11313C>G	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45959078C>G	VUS	1 lab	6491abb037
16:88793540 PIEZO1 G>A	16	88793540	88793540	G	A	PIEZO1	c.3362C>T	NM_001142864.4	NP_001136336.2:p.(Thr1121Ile)	NC_000016.9:g.88793540G>A	VUS	1 lab	649282af2a
X:48933521 WDR45 TCAC>T	X	48933521	48933527	TCAC	T	WDR45	c.516+1_516+3del	NM_001029896.2	NP_001025067.1:p.?	NC_000023.10:g.48933525_48933527del	(Likely) pathogenic	1 lab	6492cabf10
12:112036795 ATXN2 TGC>T	12	112036795	112036797	TGC	T	ATXN2	c.42_43del	NM_001372574.1	NP_001359503.1:p.(Gln15AlafsTer74)	NC_000012.11:g.112036796_112036797del	(Likely) benign	1 lab	64934e181c
12:56137184 GDF11 C>CGCG	12	56137184	56137216	C	CGCG	GDF11	c.114_116dup	NM_005811.5	NP_005802.1:p.(Ala41dup)	NC_000012.11:g.56137214_56137216dup	VUS	1 lab	64955ef48b
16:88778643 CTU2 C>T	16	88778643	88778643	C	T	CTU2	c.344-39C>T	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88778643C>T	VUS	1 lab	64959954c5
18:76973970 ATP9B A>C	18	76973970	76973970	A	C	ATP9B	c.1039A>C	NM_198531.5	NP_940933.3:p.(Ile347Leu)	NC_000018.9:g.76973970A>C	VUS	1 lab	6495bbd9a4
3:49167372 LAMB2 G>A	3	49167372	49167372	G	A	LAMB2	c.1305C>T	NM_002292.4	NP_002283.3:p.(Ser435=)	NC_000003.11:g.49167372G>A	(Likely) benign	1 lab	64967b22d2
5:170837526 NPM1 T>TC	5	170837526	170837528	T	TC	NPM1	c.847-3dup	NM_002520.7	NP_002511.1:p.?	NC_000005.9:g.170837528dup	(Likely) benign	1 lab	6497d299f1
14:104643801 KIF26A C>T	14	104643801	104643801	C	T	KIF26A	c.4676C>T	NM_015656.2	NP_056471.1:p.(Ala1559Val)	NC_000014.8:g.104643801C>T	(Likely) pathogenic	1 lab	649809db59
X:6451799 VCX3A A>AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCATCTGGCTCTCCTGACTCAGTG	X	6451799	6451839	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCATCTGGCTCTCCTGACTCAGTG	VCX3A	c.547_548insCACTGAGTCAGGAGAGCCAGATGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAAC	NM_016379.4	NP_057463.2:p.(Glu182_Leu183insProLeuSerGlnGluSerGlnMetGluGluProLeuSerGlnGluSerGluMetGluGlu)	NC_000023.10:g.6451838_6451839insTCTGGCTCTCCTGACTCAGTGGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCA	VUS	1 lab	6499576139
9:14792807 FREM1 G>C	9	14792807	14792807	G	C	FREM1	c.3915C>G	NM_001379081.2	NP_001366010.1:p.(Asp1305Glu)	NC_000009.11:g.14792807G>C	VUS	1 lab	649b4ccb94
1:160098580 ATP1A2 G>A	1	160098580	160098580	G	A	ATP1A2	c.1156G>A	NM_000702.4	NP_000693.1:p.(Val386Ile)	NC_000001.10:g.160098580G>A	VUS	1 lab	649d5deca8
16:597039 CAPN15 C>T	16	597039	597039	C	T	CAPN15	c.201C>T	NM_005632.3	NP_005623.1:p.(Cys67=)	NC_000016.9:g.597039C>T	VUS	1 lab	649e1c691d
2:238275918 COL6A3 C>T	2	238275918	238275918	C	T	COL6A3	c.4912G>A	NM_004369.4	NP_004360.2:p.(Ala1638Thr)	NC_000002.11:g.238275918C>T	(Likely) benign	1 lab	649f1eb1bc
10:120789688 NANOS1 C>A	10	120789688	120789688	C	A	NANOS1	c.375C>A	NM_199461.4	NP_955631.1:p.(Ser125Arg)	NC_000010.10:g.120789688C>A	VUS	1 lab	64a04c16c2
4:126370896 FAT4 T>C	4	126370896	126370896	T	C	FAT4	c.8731T>C	NM_001291303.3	NP_001278232.1:p.(Tyr2911His)	NC_000004.11:g.126370896T>C	VUS	1 lab	64a0fe448d
X:129306052 RAB33A C>G	X	129306052	129306052	C	G	RAB33A	c.16C>G	NM_004794.3	NP_004785.1:p.(Leu6Val)	NC_000023.10:g.129306052C>G	(Likely) benign	1 lab	64a1821c08
16:1497385 CLCN7 G>GCACATGCC	16	1497385	1497393	G	GCACATGCC	CLCN7	c.2250_2250+7dup	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1497386_1497393dup	(Likely) benign	1 lab	64a18bc25b
17:1639403 WDR81 G>A	17	1639403	1639403	G	A	WDR81	c.5396G>A	NM_001163809.2	NP_001157281.1:p.(Arg1799His)	NC_000017.10:g.1639403G>A	(Likely) benign	1 lab	64a2308cd2
7:47852885 PKD1L1 T>C	7	47852885	47852885	T	C	PKD1L1	c.7180A>G	NM_138295.5	NP_612152.1:p.(Arg2394Gly)	NC_000007.13:g.47852885T>C	(Likely) benign	1 lab	64a3f97f75
4:13545972 NKX3-2 C>G	4	13545972	13545972	C	G	NKX3-2	c.67G>C	NM_001189.4	NP_001180.1:p.(Glu23Gln)	NC_000004.11:g.13545972C>G	(Likely) benign	1 lab	64a45b7c72
11:6662463 DCHS1 C>T	11	6662463	6662463	C	T	DCHS1	c.382G>A	NM_003737.4	NP_003728.1:p.(Glu128Lys)	NC_000011.9:g.6662463C>T	(Likely) benign	1 lab	64a5ba3df4
11:57379374 SERPING1 C>A	11	57379374	57379374	C	A	SERPING1	c.1214C>A	NM_000062.2	NP_000053.2:p.(Thr405Asn)	NC_000011.9:g.57379374C>A	(Likely) benign	1 lab	22c1421f6c
20:43042435 HNF4A C>T	20	43042435	43042435	C	T	HNF4A	c.487C>T	NM_000457.5	NP_000448.3:p.(Arg163Ter)	NC_000020.10:g.43042435C>T	(Likely) pathogenic	1 lab	64a717fed0
3:71015035 FOXP1 A>C	3	71015035	71015035	A	C	FOXP1	c.1889+6T>G	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71015035A>C	(Likely) pathogenic	1 lab	64a77cd13d
11:78380067 TENM4 GCTA>G	11	78380067	78380073	GCTA	G	TENM4	c.7320_7322del	NM_001098816.3	NP_001092286.2:p.(Ser2442del)	NC_000011.9:g.78380071_78380073del	VUS	1 lab	64a78ebc32
5:1294597 TERT C>G	5	1294597	1294597	C	G	TERT	c.404G>C	NM_198253.3	NP_937983.2:p.(Gly135Ala)	NC_000005.9:g.1294597C>G	(Likely) benign	1 lab	64a7984c3d
16:53729352 RPGRIP1L T>A	16	53729352	53729352	T	A	RPGRIP1L	c.230+711A>T	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53729352T>A	(Likely) benign	1 lab	64a89869fa
1:162724610 DDR2 C>T	1	162724610	162724610	C	T	DDR2	c.382C>T	NM_006182.4	NP_006173.2:p.(Arg128Cys)	NC_000001.10:g.162724610C>T	VUS	1 lab	64aa4251e0
20:35885223 GHRH G>T	20	35885223	35885223	G	T	GHRH	c.70C>A	NM_021081.6	NP_066567.1:p.(Pro24Thr)	NC_000020.10:g.35885223G>T	(Likely) benign	1 lab	64aab3dfdd
14:105617450 JAG2 G>C	14	105617450	105617450	G	C	JAG2	c.1268-9C>G	NM_002226.5	NP_002217.3:p.?	NC_000014.8:g.105617450G>C	(Likely) benign	1 lab	64ab3dcb6f
3:41278142 CTNNB1 G>A	3	41278142	41278142	G	A	CTNNB1	c.2018G>A	NM_001904.4	NP_001895.1:p.(Arg673Gln)	NC_000003.11:g.41278142G>A	VUS	1 lab	64ad2b5c00
1:8419854 RERE TCGCTCC>T	1	8419854	8419872	TCGCTCC	T	RERE	c.3582_3587del	NM_012102.4	NP_036234.3:p.(Arg1200_Glu1201del)	NC_000001.10:g.8419867_8419872del	(Likely) benign	1 lab	21b36d7cda
1:152277035 FLG T>C	1	152277035	152277035	T	C	FLG	c.10327A>G	NM_002016.2	NP_002007.1:p.(Arg3443Gly)	NC_000001.10:g.152277035T>C	(Likely) benign	1 lab	64ae54d2b6
13:110830521 COL4A1 G>A	13	110830521	110830521	G	A	COL4A1	c.2516C>T	NM_001845.6	NP_001836.3:p.(Pro839Leu)	NC_000013.10:g.110830521G>A	VUS	1 lab	64ae793a7a
19:54304484 NLRP12 A>G	19	54304484	54304484	A	G	NLRP12	c.2753T>C	NM_144687.4	NP_653288.1:p.(Leu918Pro)	NC_000019.9:g.54304484A>G	VUS	1 lab	64b11181e7
8:104342244 FZD6 G>A	8	104342244	104342244	G	A	FZD6	c.1903G>A	NM_003506.4	NP_003497.2:p.(Gly635Arg)	NC_000008.10:g.104342244G>A	(Likely) benign	1 lab	64b1e5b182
7:100244707 ACTL6B C>T	7	100244707	100244707	C	T	ACTL6B	c.823G>A	NM_016188.5	NP_057272.1:p.(Val275Met)	NC_000007.13:g.100244707C>T	VUS	1 lab	64b2605a77
22:26688958 SEZ6L C>G	22	26688958	26688958	C	G	SEZ6L	c.681C>G	NM_021115.5	NP_066938.2:p.(Asp227Glu)	NC_000022.10:g.26688958C>G	(Likely) benign	1 lab	64b3a00316
4:186084001 CFAP97 T>C	4	186084001	186084001	T	C	CFAP97	c.1550A>G	NM_020827.3	NP_065878.1:p.(His517Arg)	NC_000004.11:g.186084001T>C	VUS	1 lab	64b49ce75f
19:55597245 EPS8L1 G>A	19	55597245	55597245	G	A	EPS8L1	c.1422G>A	NM_133180.3	NP_573441.2:p.(Leu474=)	NC_000019.9:g.55597245G>A	(Likely) benign	1 lab	64bc43cc45
20:44527043 CTSA C>T	20	44527043	44527043	C	T	CTSA	c.1397C>T	NM_000308.4	NP_000299.3:p.(Ala466Val)	NC_000020.10:g.44527043C>T	VUS	1 lab	64bc79c485
1:1267637 TAS1R3 GGTGCCGCTGCCCC>G	1	1267637	1267656	GGTGCCGCTGCCCC	G	TAS1R3	c.733_745del	NM_152228.3	NP_689414.2:p.(Leu245MetfsTer15)	NC_000001.10:g.1267644_1267656del	VUS	1 lab	64bca1c8cb
6:73332107 KCNQ5 C>T	6	73332107	73332107	C	T	KCNQ5	c.190C>T	NM_019842.4	NP_062816.2:p.(Arg64Cys)	NC_000006.11:g.73332107C>T	VUS	1 lab	64bcf7d6f7
6:170181473 ERMARD C>T	6	170181473	170181473	C	T	ERMARD	c.1901C>T	NM_018341.3	NP_060811.1:p.(Thr634Ile)	NC_000006.11:g.170181473C>T	(Likely) benign	1 lab	64be71d198
3:55514933 WNT5A A>G	3	55514933	55514933	A	G	WNT5A	c.20T>C	NM_003392.7	NP_003383.4:p.(Ile7Thr)	NC_000003.11:g.55514933A>G	(Likely) benign	1 lab	64becc0b36
14:21836422 SUPT16H C>T	14	21836422	21836422	C	T	SUPT16H	c.955+6G>A	NM_007192.4	NP_009123.1:p.?	NC_000014.8:g.21836422C>T	(Likely) benign	1 lab	64c0600ed8
10:43610078 RET G>A	10	43610078	43610078	G	A	RET	c.2030G>A	NM_020975.6	NP_066124.1:p.(Arg677Gln)	NC_000010.10:g.43610078G>A	(Likely) benign	1 lab	64c1146cc7
10:50667229 ERCC6 C>T	10	50667229	50667229	C	T	ERCC6	c.4114G>A	NM_000124.4	NP_000115.1:p.(Gly1372Arg)	NC_000010.10:g.50667229C>T	VUS	1 lab	64c53110b4
X:3238271 MXRA5 T>A	X	3238271	3238271	T	A	MXRA5	c.5455A>T	NM_015419.4	NP_056234.2:p.(Ile1819Leu)	NC_000023.10:g.3238271T>A	VUS	1 lab	64c628c6d8
3:126229642 UROC1 G>T	3	126229642	126229642	G	T	UROC1	c.127-5C>A	NM_144639.3	NP_653240.1:p.?	NC_000003.11:g.126229642G>T	(Likely) benign	1 lab	64c680bdc8
15:77310819 PSTPIP1 C>T	15	77310819	77310819	C	T	PSTPIP1	c.159C>T	NM_003978.3	NP_003969.2:p.(Tyr53=)	NC_000015.9:g.77310819C>T	(Likely) benign	1 lab	22c211cec3
9:124044734 GSN A>G	9	124044734	124044734	A	G	GSN	c.-10+894A>G	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124044734A>G	VUS	1 lab	64c708924d
X:49851397 CLCN5 G>A	X	49851397	49851397	G	A	CLCN5	c.1427G>A	NM_001127898.4	NP_001121370.1:p.(Arg476His)	NC_000023.10:g.49851397G>A	(Likely) benign	1 lab	64c7689544
5:140183175 PCDHA1 A>C	5	140183175	140183175	A	C	PCDHA1	c.2394+14906A>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140183175A>C	VUS	1 lab	64c7f5acc4
X:153174993 ARHGAP4 C>T	X	153174993	153174993	C	T	ARHGAP4	c.2415-4G>A	NM_001666.5	NP_001657.3:p.?	NC_000023.10:g.153174993C>T	(Likely) benign	1 lab	64c9093b5f
13:77742604 MYCBP2 T>C	13	77742604	77742604	T	C	MYCBP2	c.6073A>G	NM_015057.5	NP_055872.4:p.(Ser2025Gly)	NC_000013.10:g.77742604T>C	VUS	1 lab	64ca199f3c
17:15909824 TTC19 T>G	17	15909824	15909824	T	G	TTC19	c.618T>G	NM_017775.4	NP_060245.3:p.(Ile206Met)	NC_000017.10:g.15909824T>G	VUS	1 lab	64ca1e8cc5
2:220313314 SPEG C>T	2	220313314	220313314	C	T	SPEG	c.1434C>T	NM_005876.5	NP_005867.3:p.(Asp478=)	NC_000002.11:g.220313314C>T	(Likely) benign	1 lab	64ca6fcfd6
4:103645050 MANBA A>G	4	103645050	103645050	A	G	MANBA	c.347T>C	NM_005908.4	NP_005899.3:p.(Ile116Thr)	NC_000004.11:g.103645050A>G	VUS	1 lab	64cb49414d
14:21860706 CHD8 C>T	14	21860706	21860706	C	T	CHD8	c.6731G>A	NM_001170629.2	NP_001164100.1:p.(Arg2244Gln)	NC_000014.8:g.21860706C>T	(Likely) benign	1 lab	64cb7f7cdf
2:73680743 ALMS1 AC>A	2	73680743	73680744	AC	A	ALMS1	c.7090del	NM_001378454.1	NP_001365383.1:p.(Gln2364ArgfsTer11)	NC_000002.11:g.73680744del	VUS	1 lab	64cbb65304
X:96197025 DIAPH2 A>G	X	96197025	96197025	A	G	DIAPH2	c.1334A>G	NM_006729.5	NP_006720.1:p.(Tyr445Cys)	NC_000023.10:g.96197025A>G	VUS	1 lab	64cca1fc12
X:51488602 GSPT2 A>G	X	51488602	51488602	A	G	GSPT2	c.1880A>G	NM_018094.5	NP_060564.2:p.(Lys627Arg)	NC_000023.10:g.51488602A>G	(Likely) benign	1 lab	64ccc17168
13:77798592 MYCBP2 T>G	13	77798592	77798592	T	G	MYCBP2	c.2933A>C	NM_015057.5	NP_055872.4:p.(Asn978Thr)	NC_000013.10:g.77798592T>G	VUS	1 lab	64cd5e6d43
2:48033416 MSH6 A>G	2	48033416	48033416	A	G	MSH6	c.3720A>G	NM_000179.3	NP_000170.1:p.(Lys1240=)	NC_000002.11:g.48033416A>G	(Likely) benign	1 lab	64ce4b3f63
2:109746353 SH3RF3 C>A	2	109746353	109746353	C	A	SH3RF3	c.357C>A	NM_001099289.3	NP_001092759.1:p.(Asp119Glu)	NC_000002.11:g.109746353C>A	VUS	1 lab	64ce972702
20:34091995 CEP250 C>T	20	34091995	34091995	C	T	CEP250	c.5798C>T	NM_007186.6	NP_009117.2:p.(Ala1933Val)	NC_000020.10:g.34091995C>T	(Likely) benign	1 lab	64cf2ae667
1:150480762 ECM1 T>TG	1	150480762	150480767	T	TG	ECM1	c.70+12dup	NM_004425.4	NP_004416.2:p.?	NC_000001.10:g.150480767dup	VUS	1 lab	64cf8f137b
11:68212869 LRP5 G>A	11	68212869	68212869	G	A	LRP5	c.4489-1035G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68212869G>A	(Likely) benign	1 lab	64d0e86d2e
16:88778082 CTU2 G>A	16	88778082	88778082	G	A	CTU2	c.322G>A	NM_001012759.3	NP_001012777.1:p.(Ala108Thr)	NC_000016.9:g.88778082G>A	(Likely) benign	1 lab	64d167f040
16:1245474 CACNA1H G>C	16	1245474	1245474	G	C	CACNA1H	c.454G>C	NM_021098.3	NP_066921.2:p.(Val152Leu)	NC_000016.9:g.1245474G>C	VUS	1 lab	64d2e53488
X:48932526 WDR45 T>C	X	48932526	48932526	T	C	WDR45	c.1019A>G	NM_001029896.2	NP_001025067.1:p.(Asp340Gly)	NC_000023.10:g.48932526T>C	VUS	1 lab	64d4d1a5a8
1:10708098 CASZ1 G>A	1	10708098	10708098	G	A	CASZ1	c.3257C>T	NM_001079843.3	NP_001073312.1:p.(Ser1086Phe)	NC_000001.10:g.10708098G>A	VUS	1 lab	64d65da81e
22:21336680 LZTR1 CG>C	22	21336680	21336687	CG	C	LZTR1	c.27del	NM_006767.4	NP_006758.2:p.(Gln10ArgfsTer15)	NC_000022.10:g.21336687del	(Likely) pathogenic	1 lab	21b40e78d7
22:29115401 CHEK2 AT>A	22	29115401	29115402	AT	A	CHEK2	c.664del	NM_007194.4	NP_009125.1:p.(Met222CysfsTer13)	NC_000022.10:g.29115402del	(Likely) pathogenic	1 lab	64d89769f5
15:89876528 POLGARF G>C	15	89876528	89876528	G	C	POLGARF	c.513C>G	NM_001430120.1	NP_001417049.1:p.(Gly171=)	NC_000015.9:g.89876528G>C	VUS	1 lab	64d8a2a8f8
X:71521961 CITED1 G>A	X	71521961	71521961	G	A	CITED1	c.194C>T	NM_001144887.2	NP_001138359.1:p.(Ser65Leu)	NC_000023.10:g.71521961G>A	(Likely) benign	1 lab	64d9d31477
16:14959013 NOMO1 G>A	16	14959013	14959013	G	A	NOMO1	c.1669+1G>A	NM_014287.4	NP_055102.3:p.?	NC_000016.9:g.14959013G>A	(Likely) benign	1 lab	64d9ef3728
11:640305 DRD4 C>G	11	640305	640305	C	G	DRD4	c.1056C>G	NM_000797.4	NP_000788.2:p.(Val352=)	NC_000011.9:g.640305C>G	(Likely) benign	1 lab	64da3eeaf0
19:51165667 SHANK1 G>A	19	51165667	51165667	G	A	SHANK1	c.6041C>T	NM_016148.5	NP_057232.2:p.(Ala2014Val)	NC_000019.9:g.51165667G>A	(Likely) benign	1 lab	64da9d86af
4:1807546 FGFR3 C>T	4	1807546	1807546	C	T	FGFR3	c.1715C>T	NM_000142.5	NP_000133.1:p.(Pro572Leu)	NC_000004.11:g.1807546C>T	VUS	1 lab	64dbd4a3bf
19:38954139 RYR1 G>A	19	38954139	38954139	G	A	RYR1	c.2654G>A	NM_000540.3	NP_000531.2:p.(Arg885His)	NC_000019.9:g.38954139G>A	VUS	1 lab	64dc8b72e5
8:41552217 ANK1 C>T	8	41552217	41552217	C	T	ANK1	c.3220G>A	NM_000037.4	NP_000028.3:p.(Asp1074Asn)	NC_000008.10:g.41552217C>T	VUS	1 lab	64dd3429eb
9:131016980 DNM1 C>G	9	131016980	131016980	C	G	DNM1	c.2582C>G	NM_004408.4	NP_004399.2:p.(Pro861Arg)	NC_000009.11:g.131016980C>G	(Likely) benign	1 lab	64de66e930
7:105103086 PUS7 C>T	7	105103086	105103086	C	T	PUS7	c.1739G>A	NM_019042.5	NP_061915.2:p.(Arg580His)	NC_000007.13:g.105103086C>T	VUS	1 lab	64dfcbfdf2
9:117846536 TNC TG>T	9	117846536	117846538	TG	T	TNC	c.2082del	NM_002160.4	NP_002151.2:p.(Ile695SerfsTer24)	NC_000009.11:g.117846538del	VUS	1 lab	64e0abe249
11:76925033 MYO7A G>A	11	76925033	76925033	G	A	MYO7A	c.6558+9G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76925033G>A	(Likely) benign	1 lab	64e0ef3b75
12:57604965 LRP1 G>T	12	57604965	57604965	G	T	LRP1	c.12923G>T	NM_002332.3	NP_002323.2:p.(Cys4308Phe)	NC_000012.11:g.57604965G>T	VUS	1 lab	64e18768de
10:64966699 JMJD1C T>C	10	64966699	64966699	T	C	JMJD1C	c.4730A>G	NM_032776.3	NP_116165.1:p.(Glu1577Gly)	NC_000010.10:g.64966699T>C	VUS	1 lab	64e26e394c
4:79385198 FRAS1 C>T	4	79385198	79385198	C	T	FRAS1	c.6787C>T	NM_025074.7	NP_079350.5:p.(Gln2263Ter)	NC_000004.11:g.79385198C>T	(Likely) pathogenic	1 lab	22cc4695fa
2:16085640 MYCN T>G	2	16085640	16085640	T	G	MYCN	c.816T>G	NM_005378.6	NP_005369.2:p.(Asp272Glu)	NC_000002.11:g.16085640T>G	VUS	1 lab	64e4eec53e
X:32583857 DMD C>G	X	32583857	32583857	C	G	DMD	c.1585G>C	NM_004010.3	NP_004001.1:p.(Asp529His)	NC_000023.10:g.32583857C>G	VUS	1 lab	22cd478a7d
3:10094082 FANCD2 T>G	3	10094082	10094082	T	G	FANCD2	c.1557T>G	NM_001018115.3	NP_001018125.1:p.(Asp519Glu)	NC_000003.11:g.10094082T>G	VUS	1 lab	64e4fa35ed
12:51065164 DIP2B T>C	12	51065164	51065164	T	C	DIP2B	c.623T>C	NM_173602.3	NP_775873.2:p.(Phe208Ser)	NC_000012.11:g.51065164T>C	VUS	1 lab	64e546d290
14:80130254 NRXN3 A>G	14	80130254	80130254	A	G	NRXN3	c.3578A>G	NM_001330195.2	NP_001317124.1:p.(Gln1193Arg)	NC_000014.8:g.80130254A>G	(Likely) benign	1 lab	64e5e8e0f9
2:152527531 NEB A>C	2	152527531	152527531	A	C	NEB	c.4506+6T>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152527531A>C	VUS	1 lab	64e680ce11
X:53964479 PHF8 C>T	X	53964479	53964479	C	T	PHF8	c.*1112G>A	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.53964479C>T	VUS	1 lab	64e77e0519
2:15555762 NBAS C>G	2	15555762	15555762	C	G	NBAS	c.2845G>C	NM_015909.4	NP_056993.2:p.(Val949Leu)	NC_000002.11:g.15555762C>G	(Likely) benign	1 lab	64e7acadde
16:2156793 PKD1 G>C	16	2156793	2156793	G	C	PKD1	c.7209+13C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2156793G>C	(Likely) benign	1 lab	64e82350d1
2:152502739 NEB T>C	2	152502739	152502739	T	C	NEB	c.7441A>G	NM_001164508.2	NP_001157980.2:p.(Arg2481Gly)	NC_000002.11:g.152502739T>C	(Likely) benign	1 lab	64e89b3610
4:126371176 FAT4 T>C	4	126371176	126371176	T	C	FAT4	c.9011T>C	NM_001291303.3	NP_001278232.1:p.(Leu3004Ser)	NC_000004.11:g.126371176T>C	VUS	1 lab	64e99677ea
16:89348415 ANKRD11 C>T	16	89348415	89348415	C	T	ANKRD11	c.4535G>A	NM_013275.6	NP_037407.4:p.(Arg1512His)	NC_000016.9:g.89348415C>T	(Likely) benign	1 lab	64e9efe1b1
20:61981647 CHRNA4 G>A	20	61981647	61981647	G	A	CHRNA4	c.1116C>T	NM_000744.6	NP_000735.1:p.(Ile372=)	NC_000020.10:g.61981647G>A	(Likely) benign	1 lab	22d1165967
13:52371993 DHRS12 CT>C	13	52371993	52371994	CT	C	DHRS12	c.126+1676del	NM_001377533.1	NP_001364462.1:p.?	NC_000013.10:g.52371994del	VUS	1 lab	64ec40121e
16:81941314 PLCG2 A>G	16	81941314	81941314	A	G	PLCG2	c.1492A>G	NM_002661.5	NP_002652.2:p.(Ile498Val)	NC_000016.9:g.81941314A>G	VUS	1 lab	21b76ccba9
X:114242587 IL13RA2 C>T	X	114242587	114242587	C	T	IL13RA2	c.905G>A	NM_000640.3	NP_000631.1:p.(Arg302Gln)	NC_000023.10:g.114242587C>T	(Likely) benign	1 lab	64ed1a4a0b
22:50966925 TYMP C>T	22	50966925	50966925	C	T	TYMP	c.516+16G>A	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50966925C>T	(Likely) benign	1 lab	64ed854eef
17:3417309 TRPV3 C>T	17	3417309	3417309	C	T	TRPV3	c.2279-4G>A	NM_145068.4	NP_659505.1:p.?	NC_000017.10:g.3417309C>T	(Likely) benign	1 lab	64f10e99e7
19:48205657 BICRA G>A	19	48205657	48205657	G	A	BICRA	c.4668G>A	NM_001394372.1	NP_001381301.1:p.(Arg1556=)	NC_000019.9:g.48205657G>A	(Likely) benign	1 lab	64f2acce15
11:299334 IFITM5 C>T	11	299334	299334	C	T	IFITM5	c.157G>A	NM_001025295.3	NP_001020466.1:p.(Gly53Ser)	NC_000011.9:g.299334C>T	VUS	1 lab	64f49c11d4
19:51171240 SHANK1 C>T	19	51171240	51171240	C	T	SHANK1	c.3977G>A	NM_016148.5	NP_057232.2:p.(Ser1326Asn)	NC_000019.9:g.51171240C>T	(Likely) benign	1 lab	64f5ee1de7
1:6007216 NPHP4 A>G	1	6007216	6007216	A	G	NPHP4	c.1067T>C	NM_015102.5	NP_055917.1:p.(Val356Ala)	NC_000001.10:g.6007216A>G	VUS	1 lab	64f72c93e2
1:47276555 CYP4B1 G>T	1	47276555	47276555	G	T	CYP4B1	c.256G>T	NM_001099772.2	NP_001093242.1:p.(Gly86Ter)	NC_000001.10:g.47276555G>T	VUS	1 lab	64f8bb1029
8:145009010 PLEC G>A	8	145009010	145009010	G	A	PLEC	c.913C>T	NM_201384.3	NP_958786.1:p.(Arg305Cys)	NC_000008.10:g.145009010G>A	VUS	1 lab	64f9127569
8:22037291 BMP1 C>T	8	22037291	22037291	C	T	BMP1	c.910C>T	NM_006129.5	NP_006120.1:p.(Arg304Trp)	NC_000008.10:g.22037291C>T	VUS	1 lab	64faa26a2c
17:71197811 COG1 CAG>C	17	71197811	71197814	CAG	C	COG1	c.1847_1848del	NM_018714.3	NP_061184.1:p.(Arg616ThrfsTer31)	NC_000017.10:g.71197813_71197814del	VUS	1 lab	64fb254275
3:134266308 CEP63 A>T	3	134266308	134266308	A	T	CEP63	c.1061A>T	NM_001353108.3	NP_001340037.1:p.(Glu354Val)	NC_000003.11:g.134266308A>T	(Likely) benign	1 lab	64fd42dc7d
8:442476 TDRP G>A	8	442476	442476	G	A	TDRP	c.481C>T	NM_001384899.1	NP_001371828.1:p.(Arg161Cys)	NC_000008.10:g.442476G>A	VUS	1 lab	64ff8879bd
4:38016360 TBC1D1 G>C	4	38016360	38016360	G	C	TBC1D1	c.648G>C	NM_015173.4	NP_055988.2:p.(Pro216=)	NC_000004.11:g.38016360G>C	(Likely) benign	1 lab	32e4c3fecb
19:51207038 SHANK1 TG>T	19	51207038	51207043	TG	T	SHANK1	c.1271del	NM_016148.5	NP_057232.2:p.(Pro424GlnfsTer5)	NC_000019.9:g.51207043del	VUS	1 lab	6502a8a9df
11:65838059 PACS1 G>A	11	65838059	65838059	G	A	PACS1	c.102G>A	NM_018026.4	NP_060496.2:p.(Pro34=)	NC_000011.9:g.65838059G>A	(Likely) benign	1 lab	65052ec77a
6:41708289 PGC G>A	6	41708289	41708289	G	A	PGC	c.707C>T	NM_002630.4	NP_002621.1:p.(Thr236Met)	NC_000006.11:g.41708289G>A	(Likely) benign	1 lab	6505e2ab53
7:50435903 IKZF1 C>A	7	50435903	50435903	C	A	IKZF1	c.161-8328C>A	NM_006060.6	NP_006051.1:p.?	NC_000007.13:g.50435903C>A	(Likely) benign	1 lab	65077cd066
2:241905406 CROCC2 C>G	2	241905406	241905406	C	G	CROCC2	c.3957C>G	NM_001351305.2	NP_001338234.1:p.(Thr1319=)	NC_000002.11:g.241905406C>G	(Likely) benign	1 lab	6509a94628
X:35990016 CFAP47 A>G	X	35990016	35990016	A	G	CFAP47	c.2188A>G	NM_001304548.2	NP_001291477.1:p.(Thr730Ala)	NC_000023.10:g.35990016A>G	(Likely) benign	1 lab	650a25ea98
7:103198450 RELN G>A	7	103198450	103198450	G	A	RELN	c.5576C>T	NM_005045.4	NP_005036.2:p.(Thr1859Ile)	NC_000007.13:g.103198450G>A	VUS	1 lab	650a80a39e
21:46893848 COL18A1 G>A	21	46893848	46893848	G	A	COL18A1	c.691G>A	NM_001379500.1	NP_001366429.1:p.(Val231Met)	NC_000021.8:g.46893848G>A	(Likely) benign	1 lab	650aa6871c
6:38791393 DNAH8 A>G	6	38791393	38791393	A	G	DNAH8	c.3776A>G	NM_001206927.2	NP_001193856.1:p.(Tyr1259Cys)	NC_000006.11:g.38791393A>G	VUS	1 lab	650bd14c8b
11:44286565 ALX4 C>T	11	44286565	44286565	C	T	ALX4	c.1075G>A	NM_021926.4	NP_068745.2:p.(Val359Met)	NC_000011.9:g.44286565C>T	VUS	1 lab	650c778dc3
16:1575995 IFT140 C>A	16	1575995	1575995	C	A	IFT140	c.2661G>T	NM_014714.4	NP_055529.2:p.(Glu887Asp)	NC_000016.9:g.1575995C>A	(Likely) benign	1 lab	650c9aa16f
22:41574277 EP300 A>G	22	41574277	41574277	A	G	EP300	c.6562A>G	NM_001429.4	NP_001420.2:p.(Met2188Val)	NC_000022.10:g.41574277A>G	(Likely) benign	1 lab	651104373c
16:1412280 GNPTG C>T	16	1412280	1412280	C	T	GNPTG	c.485C>T	NM_032520.5	NP_115909.1:p.(Thr162Met)	NC_000016.9:g.1412280C>T	VUS	1 lab	65155c38fa
3:37042544 MLH1 G>T	3	37042544	37042544	G	T	MLH1	c.306G>T	NM_000249.4	NP_000240.1:p.(Glu102Asp)	NC_000003.11:g.37042544G>T	(Likely) pathogenic	1 lab	6516109dcc
9:20986265 FOCAD A>ATTTTTTTTTTTTTTTTTTTTTTTTT	9	20986265	20986283	A	ATTTTTTTTTTTTTTTTTTTTTTTTT	FOCAD	c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTTTTTT	VUS	1 lab	6516ce068d
19:58420660 ZNF417 T>C	19	58420660	58420660	T	C	ZNF417	c.986A>G	NM_152475.3	NP_689688.2:p.(Tyr329Cys)	NC_000019.9:g.58420660T>C	VUS	1 lab	6517aca995
6:32551957 HLA-DRB1 G>C	6	32551957	32551957	G	C	HLA-DRB1	c.299C>G	NM_002124.4	NP_002115.2:p.(Ala100Gly)	NC_000006.11:g.32551957G>C	(Likely) benign	1 lab	21bb487a9e
22:41546065 EP300 C>A	22	41546065	41546065	C	A	EP300	c.2680C>A	NM_001429.4	NP_001420.2:p.(Pro894Thr)	NC_000022.10:g.41546065C>A	VUS	1 lab	651954b160
1:116666979 MAB21L3 G>T	1	116666979	116666979	G	T	MAB21L3	c.481+1G>T	NM_152367.3	NP_689580.2:p.?	NC_000001.10:g.116666979G>T	VUS	1 lab	6519f0abb5
22:32058153 PISD G>A	22	32058153	32058153	G	A	PISD	c.42C>T	NM_001326411.2	NP_001313340.1:p.(His14=)	NC_000022.10:g.32058153G>A	(Likely) benign	1 lab	651a997cfb
1:61798187 NFIA A>G	1	61798187	61798187	A	G	NFIA	c.629A>G	NM_001134673.4	NP_001128145.1:p.(His210Arg)	NC_000001.10:g.61798187A>G	(Likely) benign	1 lab	651c184e27
4:1805543 FGFR3 C>T	4	1805543	1805543	C	T	FGFR3	c.1055C>T	NM_000142.5	NP_000133.1:p.(Ala352Val)	NC_000004.11:g.1805543C>T	VUS	1 lab	651c27a78d
2:189854123 COL3A1 G>A	2	189854123	189854123	G	A	COL3A1	c.638G>A	NM_000090.4	NP_000081.2:p.(Gly213Asp)	NC_000002.11:g.189854123G>A	(Likely) pathogenic	1 lab	21bdd8a4a1
3:55514838 WNT5A C>G	3	55514838	55514838	C	G	WNT5A	c.115G>C	NM_003392.7	NP_003383.4:p.(Val39Leu)	NC_000003.11:g.55514838C>G	VUS	1 lab	651ebd60fc
5:75906923 IQGAP2 C>G	5	75906923	75906923	C	G	IQGAP2	c.1436C>G	NM_006633.5	NP_006624.3:p.(Pro479Arg)	NC_000005.9:g.75906923C>G	VUS	1 lab	651ee07f2f
X:76855907 ATRX T>C	X	76855907	76855907	T	C	ATRX	c.5693A>G	NM_000489.6	NP_000480.3:p.(Asn1898Ser)	NC_000023.10:g.76855907T>C	VUS	1 lab	6520beae5a
9:135275618 TTF1 A>C	9	135275618	135275618	A	C	TTF1	c.1395T>G	NM_007344.4	NP_031370.2:p.(Asn465Lys)	NC_000009.11:g.135275618A>C	(Likely) benign	1 lab	652266a3d9
13:101844357 NALCN C>T	13	101844357	101844357	C	T	NALCN	c.1675G>A	NM_052867.4	NP_443099.1:p.(Val559Ile)	NC_000013.10:g.101844357C>T	VUS	1 lab	65231d2b58
3:10191493 VHL C>A	3	10191493	10191493	C	A	VHL	c.486C>A	NM_000551.3	NP_000542.1:p.(Cys162Ter)	NC_000003.11:g.10191493C>A	(Likely) pathogenic	1 lab	22d9ee1c6e
1:168066416 GPR161 C>T	1	168066416	168066416	C	T	GPR161	c.429G>A	NM_001375883.1	NP_001362812.1:p.(Arg143=)	NC_000001.10:g.168066416C>T	(Likely) benign	1 lab	6525bbbd64
17:10596258 SCO1 G>A	17	10596258	10596258	G	A	SCO1	c.385C>T	NM_004589.4	NP_004580.1:p.(Arg129Ter)	NC_000017.10:g.10596258G>A	VUS	1 lab	6525e75bc0
21:45947224 TSPEAR A>C	21	45947224	45947224	A	C	TSPEAR	c.1100T>G	NM_144991.3	NP_659428.2:p.(Ile367Ser)	NC_000021.8:g.45947224A>C	VUS	1 lab	65273e68ab
X:149828138 MTM1 G>A	X	149828138	149828138	G	A	MTM1	c.1262G>A	NM_000252.3	NP_000243.1:p.(Arg421Gln)	NC_000023.10:g.149828138G>A	(Likely) pathogenic	1 lab	6528749239
9:133942438 LAMC3 C>G	9	133942438	133942438	C	G	LAMC3	c.2439C>G	NM_006059.4	NP_006050.3:p.(Ser813Arg)	NC_000009.11:g.133942438C>G	(Likely) benign	1 lab	652ad53196
4:106580304 ARHGEF38 A>T	4	106580304	106580304	A	T	ARHGEF38	c.1327A>T	NM_001242729.2	NP_001229658.1:p.(Lys443Ter)	NC_000004.11:g.106580304A>T	VUS	1 lab	652aef5bd7
7:137792287 AKR1D1 TA>T	7	137792287	137792291	TA	T	AKR1D1	c.820del	NM_005989.4	NP_005980.1:p.(Ser274AlafsTer23)	NC_000007.13:g.137792291del	VUS	1 lab	652c9c5135
X:23953524 CXorf58 G>A	X	23953524	23953524	G	A	CXorf58	c.767G>A	NM_152761.3	NP_689974.2:p.(Arg256Gln)	NC_000023.10:g.23953524G>A	VUS	1 lab	652cd6b192
9:34179123 UBAP1 G>T	9	34179123	34179123	G	T	UBAP1	c.-123G>T	NM_016525.5	NP_057609.2:p.?	NC_000009.11:g.34179123G>T	(Likely) benign	1 lab	652e6a8d75
3:195791217 TFRC C>A	3	195791217	195791217	C	A	TFRC	c.1281G>T	NM_001128148.3	NP_001121620.1:p.(Leu427Phe)	NC_000003.11:g.195791217C>A	VUS	1 lab	652e81bab8
16:88805010 PIEZO1 CCCAGCCGCCA>C	16	88805010	88805025	CCCAGCCGCCA	C	PIEZO1	c.590_599del	NM_001142864.4	NP_001136336.2:p.(Val197GlyfsTer6)	NC_000016.9:g.88805016_88805025del	VUS	1 lab	652ee20d4d
20:2448334 SNRPB C>T	20	2448334	2448334	C	T	SNRPB	c.74G>A	NM_003091.4	NP_003082.1:p.(Arg25Gln)	NC_000020.10:g.2448334C>T	(Likely) benign	1 lab	653095e531
1:15642964 FHAD1 G>A	1	15642964	15642964	G	A	FHAD1	c.1260+1G>A	NM_001391957.1	NP_001378886.1:p.?	NC_000001.10:g.15642964G>A	VUS	1 lab	6531053300
19:45445602 APOC4 G>T	19	45445602	45445602	G	T	APOC4	c.68G>T	NM_001646.3	NP_001637.1:p.(Cys23Phe)	NC_000019.9:g.45445602G>T	VUS	1 lab	6531ecb466
2:238244863 COL6A3 T>TGCA	2	238244863	238244877	T	TGCA	COL6A3	c.8877_8879dup	NM_004369.4	NP_004360.2:p.(Ala2960dup)	NC_000002.11:g.238244875_238244877dup	VUS	1 lab	65325cb75f
2:152520047 NEB G>A	2	152520047	152520047	G	A	NEB	c.5763+15C>T	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152520047G>A	(Likely) benign	1 lab	22db577bcf
2:179485900 TTN G>A	2	179485900	179485900	G	A	TTN	c.45545C>T	NM_001267550.1	NP_001254479.1:p.(Thr15182Ile)	NC_000002.11:g.179485900G>A	VUS	1 lab	22db858bfb
16:1204038 CACNA1H T>C	16	1204038	1204038	T	C	CACNA1H	c.299+2T>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1204038T>C	VUS	1 lab	65341cb505
7:111381284 DOCK4 A>G	7	111381284	111381284	A	G	DOCK4	c.4893-14T>C	NM_014705.4	NP_055520.3:p.?	NC_000007.13:g.111381284A>G	(Likely) benign	1 lab	22dbf07127
2:1499966 TPO C>G	2	1499966	1499966	C	G	TPO	c.2212C>G	NM_001206744.2	NP_001193673.1:p.(Gln738Glu)	NC_000002.11:g.1499966C>G	(Likely) benign	1 lab	6534ac2fcc
2:179431476 TTN G>T	2	179431476	179431476	G	T	TTN	c.79383C>A	NM_001267550.2	NP_001254479.2:p.(Val26461=)	NC_000002.11:g.179431476G>T	(Likely) benign	1 lab	653617455a
1:22167743 HSPG2 C>T	1	22167743	22167743	C	T	HSPG2	c.9364G>A	NM_005529.7	NP_005520.4:p.(Val3122Met)	NC_000001.10:g.22167743C>T	VUS	1 lab	6537035b7f
1:1453126 ATAD3A C>T	1	1453126	1453126	C	T	ATAD3A	c.415C>T	NM_001170535.3	NP_001164006.1:p.(Gln139Ter)	NC_000001.10:g.1453126C>T	VUS	1 lab	6537164421
17:42397722 SLC25A39 C>T	17	42397722	42397722	C	T	SLC25A39	c.883+1G>A	NM_001143780.3	NP_001137252.1:p.?	NC_000017.10:g.42397722C>T	VUS	1 lab	65380e411b
5:149360901 SLC26A2 G>A	5	149360901	149360901	G	A	SLC26A2	c.1745G>A	NM_000112.4	NP_000103.2:p.(Arg582His)	NC_000005.9:g.149360901G>A	VUS	1 lab	653867ba4f
1:231335934 TRIM67 G>A	1	231335934	231335934	G	A	TRIM67	c.1304G>A	NM_001004342.5	NP_001004342.3:p.(Arg435His)	NC_000001.10:g.231335934G>A	VUS	1 lab	6538d0d051
17:8424555 MYH10 G>A	17	8424555	8424555	G	A	MYH10	c.2006C>T	NM_001256012.3	NP_001242941.1:p.(Ala669Val)	NC_000017.10:g.8424555G>A	VUS	1 lab	6539962422
2:152348283 NEB C>T	2	152348283	152348283	C	T	NEB	c.25064G>A	NM_001164508.2	NP_001157980.2:p.(Arg8355His)	NC_000002.11:g.152348283C>T	VUS	1 lab	653a6c085e
1:210857434 KCNH1 C>T	1	210857434	210857434	C	T	KCNH1	c.2159G>A	NM_172362.3	NP_758872.1:p.(Arg720His)	NC_000001.10:g.210857434C>T	(Likely) benign	1 lab	653a814d70
1:1452577 ATAD3A A>G	1	1452577	1452577	A	G	ATAD3A	c.283-114A>G	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1452577A>G	VUS	1 lab	65eb83d1a9
14:99976587 CCNK C>CG	14	99976587	99976589	C	CG	CCNK	c.1213dup	NM_001099402.2	NP_001092872.1:p.(Ala405GlyfsTer179)	NC_000014.8:g.99976589dup	(Likely) benign	1 lab	653e4d567d
X:48207027 SSX3 C>G	X	48207027	48207027	C	G	SSX3	c.479G>C	NM_021014.4	NP_066294.1:p.(Gly160Ala)	NC_000023.10:g.48207027C>G	(Likely) benign	1 lab	653f4463ad
20:50406984 SALL4 C>T	20	50406984	50406984	C	T	SALL4	c.2038G>A	NM_020436.5	NP_065169.1:p.(Gly680Ser)	NC_000020.10:g.50406984C>T	(Likely) benign	1 lab	653ff17b79
19:18900935 COMP A>T	19	18900935	18900935	A	T	COMP	c.218-12T>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900935A>T	(Likely) benign	1 lab	65409a0c58
22:51142303 SHANK3 G>A	22	51142303	51142303	G	A	SHANK3	c.1853G>A	NM_001372044.2	NP_001358973.1:p.(Arg618Gln)	NC_000022.10:g.51142303G>A	VUS	1 lab	6540e17b7f
4:79173547 FRAS1 A>G	4	79173547	79173547	A	G	FRAS1	c.311A>G	NM_025074.7	NP_079350.5:p.(His104Arg)	NC_000004.11:g.79173547A>G	VUS	1 lab	65421a8f83
5:149907868 NDST1 C>T	5	149907868	149907868	C	T	NDST1	c.1008+8C>T	NM_001543.5	NP_001534.1:p.?	NC_000005.9:g.149907868C>T	(Likely) benign	1 lab	65425dd851
19:1111619 SBNO2 G>A	19	1111619	1111619	G	A	SBNO2	c.2701-6C>T	NM_014963.3	NP_055778.2:p.?	NC_000019.9:g.1111619G>A	(Likely) benign	1 lab	6542cebd6a
12:48367960 COL2A1 G>T	12	48367960	48367960	G	T	COL2A1	c.4229C>A	NM_001844.5	NP_001835.3:p.(Ala1410Asp)	NC_000012.11:g.48367960G>T	(Likely) pathogenic	1 lab	65432ee411
6:26156938 H1-4 TCAA>T	6	26156938	26156944	TCAA	T	H1-4	c.324_326del	NM_005321.3	NP_005312.1:p.(Asn108del)	NC_000006.11:g.26156942_26156944del	VUS	1 lab	6547127b3a
X:85226596 CHM G>C	X	85226596	85226596	G	C	CHM	c.314+7175C>G	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85226596G>C	(Likely) benign	1 lab	65479b0156
11:46332694 CREB3L1 G>A	11	46332694	46332694	G	A	CREB3L1	c.707G>A	NM_052854.4	NP_443086.1:p.(Arg236His)	NC_000011.9:g.46332694G>A	VUS	1 lab	6548b9bad2
17:29685568 NF1 A>G	17	29685568	29685568	A	G	NF1	c.8041A>G	NM_001042492.2	NP_001035957.1:p.(Ile2681Val)	NC_000017.10:g.29685568A>G	(Likely) benign	1 lab	22dc6aad18
3:369974 CHL1 C>T	3	369974	369974	C	T	CHL1	c.322C>T	NM_006614.4	NP_006605.2:p.(Arg108Cys)	NC_000003.11:g.369974C>T	VUS	1 lab	6657626b18
3:9495415 SETD5 A>G	3	9495415	9495415	A	G	SETD5	c.2347-8A>G	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9495415A>G	(Likely) benign	1 lab	654b0441e3
10:64573470 EGR2 A>AGGC	10	64573470	64573488	A	AGGC	EGR2	c.925_927dup	NM_000399.5	NP_000390.2:p.(Ala309dup)	NC_000010.10:g.64573486_64573488dup	VUS	1 lab	654cf382f6
X:2867651 ARSL C>T	X	2867651	2867651	C	T	ARSL	c.548G>A	NM_000047.3	NP_000038.2:p.(Arg183His)	NC_000023.10:g.2867651C>T	(Likely) benign	1 lab	654cfceb66
3:37067225 MLH1 A>G	3	37067225	37067225	A	G	MLH1	c.1136A>G	NM_000249.4	NP_000240.1:p.(Tyr379Cys)	NC_000003.11:g.37067225A>G	VUS	1 lab	654f639155
16:57691280 ADGRG1 G>T	16	57691280	57691280	G	T	ADGRG1	c.1168-5G>T	NM_201525.4	NP_958933.1:p.?	NC_000016.9:g.57691280G>T	(Likely) benign	1 lab	655051c5e3
6:152671809 SYNE1 T>C	6	152671809	152671809	T	C	SYNE1	c.11677A>G	NM_182961.4	NP_892006.3:p.(Lys3893Glu)	NC_000006.11:g.152671809T>C	(Likely) benign	1 lab	6550992a4b
9:35067957 VCP G>C	9	35067957	35067957	G	C	VCP	c.233C>G	NM_007126.5	NP_009057.1:p.(Ser78Cys)	NC_000009.11:g.35067957G>C	VUS	1 lab	65519430ef
19:33968989 PEPD C>G	19	33968989	33968989	C	G	PEPD	c.511G>C	NM_000285.4	NP_000276.2:p.(Val171Leu)	NC_000019.9:g.33968989C>G	(Likely) benign	1 lab	655238a7c5
8:41557101 ANK1 A>G	8	41557101	41557101	A	G	ANK1	c.2462-35T>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41557101A>G	(Likely) benign	1 lab	22e46c852c
21:44484000 CBS C>T	21	44484000	44484000	C	T	CBS	c.828+10G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44484000C>T	(Likely) benign	1 lab	65527f678c
9:138676346 KCNT1 T>C	9	138676346	138676346	T	C	KCNT1	c.2944-35T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676346T>C	(Likely) benign	1 lab	22e4b63a0d
12:49434664 KMT2D G>A	12	49434664	49434664	G	A	KMT2D	c.6889C>T	NM_003482.4	NP_003473.3:p.(Pro2297Ser)	NC_000012.11:g.49434664G>A	(Likely) benign	1 lab	65532ce6a4
7:94055784 COL1A2 C>A	7	94055784	94055784	C	A	COL1A2	c.3047C>A	NM_000089.4	NP_000080.2:p.(Pro1016His)	NC_000007.13:g.94055784C>A	VUS	1 lab	6553b365ee
17:78169414 CARD14 C>T	17	78169414	78169414	C	T	CARD14	c.1557C>T	NM_001366385.1	NP_001353314.1:p.(Gly519=)	NC_000017.10:g.78169414C>T	(Likely) benign	1 lab	655446d52e
20:23618265 CST3 G>T	20	23618265	23618265	G	T	CST3	c.235C>A	NM_000099.4	NP_000090.1:p.(Arg79Ser)	NC_000020.10:g.23618265G>T	(Likely) benign	1 lab	65577e9899
15:33858940 RYR3 A>C	15	33858940	33858940	A	C	RYR3	c.1208A>C	NM_001036.6	NP_001027.3:p.(Glu403Ala)	NC_000015.9:g.33858940A>C	VUS	1 lab	6558a66635
11:31815056 PAX6 G>C	11	31815056	31815056	G	C	PAX6	c.1004C>G	NM_001368894.2	NP_001355823.1:p.(Ala335Gly)	NC_000011.9:g.31815056G>C	VUS	1 lab	6559c04a50
8:11566322 GATA4 C>A	8	11566322	11566322	C	A	GATA4	c.501C>A	NM_001308093.3	NP_001295022.1:p.(Ala167=)	NC_000008.10:g.11566322C>A	(Likely) benign	1 lab	655cec15c2
1:197072044 ASPM T>C	1	197072044	197072044	T	C	ASPM	c.6337A>G	NM_018136.5	NP_060606.3:p.(Ile2113Val)	NC_000001.10:g.197072044T>C	VUS	1 lab	655e0f1d0c
16:1260620 CACNA1H C>T	16	1260620	1260620	C	T	CACNA1H	c.4007C>T	NM_021098.3	NP_066921.2:p.(Thr1336Met)	NC_000016.9:g.1260620C>T	VUS	1 lab	655ee39211
18:10702036 PIEZO2 T>C	18	10702036	10702036	T	C	PIEZO2	c.6392A>G	NM_001378183.1	NP_001365112.1:p.(Tyr2131Cys)	NC_000018.9:g.10702036T>C	VUS	1 lab	656776fd8c
1:46656462 POMGNT1 G>A	1	46656462	46656462	G	A	POMGNT1	c.1540-6C>T	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46656462G>A	VUS	1 lab	6568b1a64f
21:45709914 AIRE C>T	21	45709914	45709914	C	T	AIRE	c.842C>T	NM_000383.4	NP_000374.1:p.(Ala281Val)	NC_000021.8:g.45709914C>T	(Likely) benign	1 lab	65697c8e8c
14:102906851 TECPR2 A>C	14	102906851	102906851	A	C	TECPR2	c.2657A>C	NM_014844.5	NP_055659.2:p.(His886Pro)	NC_000014.8:g.102906851A>C	VUS	1 lab	656be8d2bf
10:28142211 ODAD2 G>A	10	28142211	28142211	G	A	ODAD2	c.3021+7343C>T	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28142211G>A	VUS	1 lab	656cc77b0b
5:89947542 ADGRV1 AT>A	5	89947542	89947546	AT	A	ADGRV1	c.3415del	NM_032119.4	NP_115495.3:p.(Trp1139GlyfsTer3)	NC_000005.9:g.89947546del	(Likely) pathogenic	1 lab	656d32302d
19:48946293 GRIN2D C>T	19	48946293	48946293	C	T	GRIN2D	c.3110C>T	NM_000836.4	NP_000827.2:p.(Ala1037Val)	NC_000019.9:g.48946293C>T	VUS	1 lab	21c4d30e6e
16:1254336 CACNA1H C>T	16	1254336	1254336	C	T	CACNA1H	c.2329C>T	NM_021098.3	NP_066921.2:p.(Arg777Cys)	NC_000016.9:g.1254336C>T	(Likely) benign	1 lab	656f2bbea2
1:155744825 GON4L T>G	1	155744825	155744825	T	G	GON4L	c.2318A>C	NM_001282860.2	NP_001269789.1:p.(Asp773Ala)	NC_000001.10:g.155744825T>G	VUS	1 lab	657011d9ad
7:75608856 POR G>A	7	75608856	75608856	G	A	POR	c.325G>A	NM_000941.3	NP_000932.3:p.(Gly109Arg)	NC_000007.13:g.75608856G>A	VUS	1 lab	657099c13f
1:3756281 CEP104 T>C	1	3756281	3756281	T	C	CEP104	c.626A>G	NM_014704.4	NP_055519.1:p.(Glu209Gly)	NC_000001.10:g.3756281T>C	VUS	1 lab	6570b290f3
5:177031407 B4GALT7 A>G	5	177031407	177031407	A	G	B4GALT7	c.278A>G	NM_007255.3	NP_009186.1:p.(His93Arg)	NC_000005.9:g.177031407A>G	VUS	1 lab	6571286f3e
17:54671711 NOG C>G	17	54671711	54671711	C	G	NOG	c.127C>G	NM_005450.6	NP_005441.1:p.(Leu43Val)	NC_000017.10:g.54671711C>G	VUS	1 lab	6571d70d3f
6:79770425 PHIP TAA>T	6	79770425	79770428	TAA	T	PHIP	c.298_299del	NM_017934.7	NP_060404.4:p.(Leu100IlefsTer13)	NC_000006.11:g.79770427_79770428del	(Likely) pathogenic	1 lab	657283c414
14:77493840 IRF2BPL G>A	14	77493840	77493840	G	A	IRF2BPL	c.296C>T	NM_024496.4	NP_078772.1:p.(Ala99Val)	NC_000014.8:g.77493840G>A	(Likely) benign	1 lab	6572ad7281
15:33895503 RYR3 G>A	15	33895503	33895503	G	A	RYR3	c.2102G>A	NM_001036.6	NP_001027.3:p.(Gly701Glu)	NC_000015.9:g.33895503G>A	VUS	1 lab	6575576f85
16:3634764 SLX4 G>A	16	3634764	3634764	G	A	SLX4	c.4739+6C>T	NM_032444.4	NP_115820.2:p.?	NC_000016.9:g.3634764G>A	(Likely) benign	1 lab	65759f6675
X:27999366 DCAF8L1 A>G	X	27999366	27999366	A	G	DCAF8L1	c.86T>C	NM_001017930.2	NP_001017930.1:p.(Val29Ala)	NC_000023.10:g.27999366A>G	(Likely) benign	1 lab	6578ee4c06
X:70356377 MED12 G>C	X	70356377	70356377	G	C	MED12	c.5272G>C	NM_005120.3	NP_005111.2:p.(Glu1758Gln)	NC_000023.10:g.70356377G>C	VUS	1 lab	6579e3ea12
16:76532505 CNTNAP4 CAGTAACTAAGATCGT>C	16	76532505	76532520	CAGTAACTAAGATCGT	C	CNTNAP4	c.2280_2294del	NM_033401.5	NP_207837.2:p.(Val761_Val765del)	NC_000016.9:g.76532506_76532520del	VUS	1 lab	657cceb4d8
2:48033908 MSH6 TAA>T	2	48033908	48033910	TAA	T	MSH6	c.4002-9_4002-8del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033909_48033910del	(Likely) benign	1 lab	657ce419ae
2:241685201 KIF1A C>T	2	241685201	241685201	C	T	KIF1A	c.3025G>A	NM_004321.8	NP_004312.2:p.(Ala1009Thr)	NC_000002.11:g.241685201C>T	VUS	1 lab	21c8daf159
16:74670343 RFWD3 TGAAGGTCTTTTG>T	16	74670343	74670359	TGAAGGTCTTTTG	T	RFWD3	c.1315_1326del	NM_018124.4	NP_060594.3:p.(Gln439_Phe442del)	NC_000016.9:g.74670348_74670359del	VUS	1 lab	657ec82ca6
11:11373741 CSNK2A3 T>A	11	11373741	11373741	T	A	CSNK2A3	c.926A>T	NM_001256686.2	NP_001243615.1:p.(His309Leu)	NC_000011.9:g.11373741T>A	VUS	1 lab	6580bbeec4
X:122528821 GRIA3 T>C	X	122528821	122528821	T	C	GRIA3	c.753T>C	NM_007325.5	NP_015564.5:p.(Gly251=)	NC_000023.10:g.122528821T>C	VUS	1 lab	6581ab0d92
14:64532330 SYNE2 G>A	14	64532330	64532330	G	A	SYNE2	c.10393G>A	NM_182914.3	NP_878918.2:p.(Glu3465Lys)	NC_000014.8:g.64532330G>A	(Likely) benign	1 lab	6582ccb490
22:40068267 CACNA1I G>T	22	40068267	40068267	G	T	CACNA1I	c.4603G>T	NM_021096.4	NP_066919.2:p.(Val1535Leu)	NC_000022.10:g.40068267G>T	(Likely) benign	1 lab	65833c78d3
4:5795413 EVC G>A	4	5795413	5795413	G	A	EVC	c.1855G>A	NM_153717.3	NP_714928.1:p.(Val619Ile)	NC_000004.11:g.5795413G>A	(Likely) benign	1 lab	658449615e
19:55877544 IL11 A>G	19	55877544	55877544	A	G	IL11	c.431T>C	NM_000641.4	NP_000632.1:p.(Met144Thr)	NC_000019.9:g.55877544A>G	(Likely) benign	1 lab	658619567f
6:74351578 SLC17A5 TG>T	6	74351578	74351579	TG	T	SLC17A5	c.360del	NM_012434.5	NP_036566.1:p.(Ile121SerfsTer13)	NC_000006.11:g.74351579del	(Likely) pathogenic	1 lab	65864fa2dd
5:147486597 SPINK5 C>T	5	147486597	147486597	C	T	SPINK5	c.1480-3C>T	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147486597C>T	(Likely) benign	1 lab	65865689d6
18:2931283 LPIN2 C>T	18	2931283	2931283	C	T	LPIN2	c.1427G>A	NM_001375808.2	NP_001362737.1:p.(Gly476Asp)	NC_000018.9:g.2931283C>T	VUS	1 lab	6586ccff58
15:89417081 ACAN G>A	15	89417081	89417081	G	A	ACAN	c.7456G>A	NM_001369268.1	NP_001356197.1:p.(Gly2486Arg)	NC_000015.9:g.89417081G>A	VUS	1 lab	65871ea3d7
17:65882370 BPTF C>T	17	65882370	65882370	C	T	BPTF	c.1865-5590C>T	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65882370C>T	(Likely) benign	1 lab	6589150aa3
X:92927498 NAP1L3 G>C	X	92927498	92927498	G	C	NAP1L3	c.806C>G	NM_004538.6	NP_004529.2:p.(Thr269Arg)	NC_000023.10:g.92927498G>C	(Likely) benign	1 lab	658a03f692
11:119058712 NHERF4 C>T	11	119058712	119058712	C	T	NHERF4	c.721C>T	NM_001168468.2	NP_001161940.1:p.(Arg241Cys)	NC_000011.9:g.119058712C>T	VUS	1 lab	658aa76488
16:27375542 IL4R G>A	16	27375542	27375542	G	A	IL4R	c.*391G>A	NM_001257407.2	NP_001244336.1:p.?	NC_000016.9:g.27375542G>A	(Likely) benign	1 lab	21ca7bb96c
1:201047034 CACNA1S C>T	1	201047034	201047034	C	T	CACNA1S	c.1592G>A	NM_000069.3	NP_000060.2:p.(Arg531His)	NC_000001.10:g.201047034C>T	VUS	1 lab	658c326473
3:47162066 SETD2 C>T	3	47162066	47162066	C	T	SETD2	c.4060G>A	NM_014159.7	NP_054878.5:p.(Asp1354Asn)	NC_000003.11:g.47162066C>T	(Likely) benign	1 lab	658feddd00
14:79433546 NRXN3 C>T	14	79433546	79433546	C	T	NRXN3	c.2778-5C>T	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79433546C>T	(Likely) benign	1 lab	65916a85f1
1:168074027 GPR161 CCCT>C	1	168074027	168074037	CCCT	C	GPR161	c.59_61del	NM_001375883.1	NP_001362812.1:p.(Glu20del)	NC_000001.10:g.168074035_168074037del	VUS	1 lab	6592955b75
3:12434126 PPARG G>C	3	12434126	12434126	G	C	PPARG	c.404G>C	NM_138711.6	NP_619725.3:p.(Arg135Thr)	NC_000003.11:g.12434126G>C	VUS	1 lab	6593e65a45
4:87080442 MAPK10 T>C	4	87080442	87080442	T	C	MAPK10	c.236+9A>G	NM_138982.4	NP_620448.1:p.?	NC_000004.11:g.87080442T>C	VUS	1 lab	65942feee2
7:142571847 TRPV6 T>G	7	142571847	142571847	T	G	TRPV6	c.1621A>C	NM_018646.6	NP_061116.5:p.(Ile541Leu)	NC_000007.13:g.142571847T>G	VUS	1 lab	65951b7508
1:224599247 WDR26 G>A	1	224599247	224599247	G	A	WDR26	c.1340C>T	NM_001379403.1	NP_001366332.1:p.(Thr447Met)	NC_000001.10:g.224599247G>A	VUS	1 lab	659527de29
6:30076800 TRIM31 T>C	6	30076800	30076800	T	C	TRIM31	c.767+3A>G	NM_007028.5	NP_008959.3:p.?	NC_000006.11:g.30076800T>C	(Likely) benign	1 lab	6595503e95
2:86308085 POLR1A G>A	2	86308085	86308085	G	A	POLR1A	c.940C>T	NM_015425.6	NP_056240.2:p.(Arg314Cys)	NC_000002.11:g.86308085G>A	VUS	1 lab	6596dbaa7a
16:2815763 SRRM2 G>A	16	2815763	2815763	G	A	SRRM2	c.5234G>A	NM_016333.4	NP_057417.3:p.(Arg1745Gln)	NC_000016.9:g.2815763G>A	VUS	1 lab	65982c162d
3:48266102 CAMP C>T	3	48266102	48266102	C	T	CAMP	c.319C>T	NM_004345.5	NP_004336.4:p.(Arg107Trp)	NC_000003.11:g.48266102C>T	(Likely) benign	1 lab	65986a9ce1
1:109801543 CELSR2 A>G	1	109801543	109801543	A	G	CELSR2	c.3800A>G	NM_001408.3	NP_001399.1:p.(His1267Arg)	NC_000001.10:g.109801543A>G	(Likely) benign	1 lab	659881b4db
3:53796111 CACNA1D G>A	3	53796111	53796111	G	A	CACNA1D	c.3870+3G>A	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53796111G>A	(Likely) benign	1 lab	6598b0114a
12:83424581 TMTC2 G>A	12	83424581	83424581	G	A	TMTC2	c.2075G>A	NM_152588.3	NP_689801.1:p.(Arg692His)	NC_000012.11:g.83424581G>A	VUS	1 lab	659aff0ea7
7:99769202 GPC2 G>T	7	99769202	99769202	G	T	GPC2	c.1270C>A	NM_152742.3	NP_689955.1:p.(Leu424Met)	NC_000007.13:g.99769202G>T	VUS	1 lab	659d54d6f8
1:226110029 PYCR2 C>T	1	226110029	226110029	C	T	PYCR2	c.193G>A	NM_013328.4	NP_037460.2:p.(Val65Ile)	NC_000001.10:g.226110029C>T	VUS	1 lab	659d6cbb32
2:175613326 CHRNA1 T>C	2	175613326	175613326	T	C	CHRNA1	c.1299A>G	NM_001039523.3	NP_001034612.1:p.(Ser433=)	NC_000002.11:g.175613326T>C	(Likely) benign	1 lab	22eb25f716
2:152342310 NEB G>A	2	152342310	152342310	G	A	NEB	c.25542C>T	NM_001164508.2	NP_001157980.2:p.(Thr8514=)	NC_000002.11:g.152342310G>A	(Likely) benign	1 lab	659eaa20c1
4:6292944 WFS1 C>T	4	6292944	6292944	C	T	WFS1	c.481C>T	NM_006005.3	NP_005996.2:p.(Arg161Trp)	NC_000004.11:g.6292944C>T	VUS	1 lab	659f4dabd1
1:115269617 CSDE1 TGAG>T	1	115269617	115269623	TGAG	T	CSDE1	c.1448_1450del	NM_001007553.3	NP_001007554.1:p.(Pro483del)	NC_000001.10:g.115269621_115269623del	VUS	1 lab	659faeb41f
1:46532605 PIK3R3 T>TAC	1	46532605	46532608	T	TAC	PIK3R3	c.471_472dup	NM_003629.4	NP_003620.3:p.(Tyr158CysfsTer13)	NC_000001.10:g.46532607_46532608dup	VUS	1 lab	659ffcad13
12:66221767 HMGA2 T>C	12	66221767	66221767	T	C	HMGA2	c.112-14T>C	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66221767T>C	(Likely) benign	1 lab	65a1705418
19:39989871 DLL3 T>C	19	39989871	39989871	T	C	DLL3	c.109T>C	NM_203486.3	NP_982353.1:p.(Phe37Leu)	NC_000019.9:g.39989871T>C	VUS	1 lab	65a1bfbe0c
7:31016155 GHRHR GGGACT>G	7	31016155	31016162	GGGACT	G	GHRHR	c.1089_1093del	NM_000823.4	NP_000814.2:p.(Leu364PhefsTer21)	NC_000007.13:g.31016158_31016162del	(Likely) pathogenic	1 lab	65a4ece37f
2:166221738 SCN2A A>T	2	166221738	166221738	A	T	SCN2A	c.3485A>T	NM_001040142.2	NP_001035232.1:p.(Glu1162Val)	NC_000002.11:g.166221738A>T	(Likely) benign	1 lab	65a52533c8
9:117552974 TNFSF15 T>C	9	117552974	117552974	T	C	TNFSF15	c.514A>G	NM_005118.4	NP_005109.2:p.(Asn172Asp)	NC_000009.11:g.117552974T>C	(Likely) benign	1 lab	65a6effb28
17:7809166 CHD3 A>T	17	7809166	7809166	A	T	CHD3	c.4225-8A>T	NM_001005273.3	NP_001005273.1:p.?	NC_000017.10:g.7809166A>T	(Likely) benign	1 lab	65aa6a49fc
2:15701419 NBAS G>T	2	15701419	15701419	G	T	NBAS	c.10C>A	NM_015909.4	NP_056993.2:p.(Pro4Thr)	NC_000002.11:g.15701419G>T	VUS	1 lab	65aac932f1
2:176803119 LNPK G>A	2	176803119	176803119	G	A	LNPK	c.813-8C>T	NM_030650.3	NP_085153.1:p.?	NC_000002.11:g.176803119G>A	(Likely) benign	1 lab	65acb6f1a5
12:46215425 ARID2 G>A	12	46215425	46215425	G	A	ARID2	c.705+155G>A	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46215425G>A	(Likely) benign	1 lab	65ae65a8ff
16:14859119 NPIPA2 C>T	16	14859119	14859119	C	T	NPIPA2	c.959C>T	NM_001395485.2	NP_001382414.1:p.(Ala320Val)	NC_000016.9:g.14859119C>T	VUS	1 lab	65af4f8253
1:5937158 NPHP4 C>T	1	5937158	5937158	C	T	NPHP4	c.2812G>A	NM_015102.5	NP_055917.1:p.(Val938Met)	NC_000001.10:g.5937158C>T	(Likely) benign	1 lab	65b132d7c8
9:36219884 GNE T>C	9	36219884	36219884	T	C	GNE	c.1767A>G	NM_005476.7	NP_005467.1:p.(Ala589=)	NC_000009.11:g.36219884T>C	VUS	1 lab	65b1ca43be
6:20546697 CDKAL1 G>A	6	20546697	20546697	G	A	CDKAL1	c.116G>A	NM_017774.3	NP_060244.2:p.(Arg39Gln)	NC_000006.11:g.20546697G>A	(Likely) benign	1 lab	65b33dc658
12:56082680 ITGA7 C>CG	12	56082680	56082682	C	CG	ITGA7	c.2905dup	NM_002206.3	NP_002197.2:p.(Arg969ProfsTer153)	NC_000012.11:g.56082682dup	(Likely) pathogenic	1 lab	65b41670ce
1:197070816 ASPM A>C	1	197070816	197070816	A	C	ASPM	c.7565T>G	NM_018136.5	NP_060606.3:p.(Leu2522Ter)	NC_000001.10:g.197070816A>C	VUS	1 lab	65b46ecf80
4:152053491 SH3D19 T>C	4	152053491	152053491	T	C	SH3D19	c.2734A>G	NM_001378122.1	NP_001365051.1:p.(Asn912Asp)	NC_000004.11:g.152053491T>C	VUS	1 lab	65b4e09310
15:90173633 KIF7 C>T	15	90173633	90173633	C	T	KIF7	c.3203G>A	NM_198525.3	NP_940927.2:p.(Arg1068Gln)	NC_000015.9:g.90173633C>T	VUS	1 lab	65b4fca394
16:31129318 KAT8 A>T	16	31129318	31129318	A	T	KAT8	c.211+105A>T	NM_032188.3	NP_115564.2:p.?	NC_000016.9:g.31129318A>T	(Likely) benign	1 lab	65b527a5c3
20:60888474 LAMA5 C>G	20	60888474	60888474	C	G	LAMA5	c.8701G>C	NM_005560.6	NP_005551.3:p.(Glu2901Gln)	NC_000020.10:g.60888474C>G	VUS	1 lab	65b54c88f5
2:15557822 NBAS C>CA	2	15557822	15557824	C	CA	NBAS	c.2591dup	NM_015909.4	NP_056993.2:p.(Leu864PhefsTer20)	NC_000002.11:g.15557824dup	VUS	1 lab	65b55ca7b1
16:3779242 CREBBP C>T	16	3779242	3779242	C	T	CREBBP	c.5806G>A	NM_004380.3	NP_004371.2:p.(Gly1936Arg)	NC_000016.9:g.3779242C>T	VUS	1 lab	65b5ceb44e
17:19261225 B9D1 G>A	17	19261225	19261225	G	A	B9D1	c.172C>T	NM_015681.5	NP_056496.1:p.(Gln58Ter)	NC_000017.10:g.19261225G>A	VUS	1 lab	65b61e1325
12:2775957 CACNA1C T>C	12	2775957	2775957	T	C	CACNA1C	c.4623+9T>C	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2775957T>C	(Likely) benign	1 lab	65b6bf826e
12:49432753 KMT2D G>C	12	49432753	49432753	G	C	KMT2D	c.8386C>G	NM_003482.4	NP_003473.3:p.(Gln2796Glu)	NC_000012.11:g.49432753G>C	VUS	1 lab	65b81ebcba
9:133759698 ABL1 G>A	9	133759698	133759698	G	A	ABL1	c.2021G>A	NM_005157.6	NP_005148.2:p.(Arg674Gln)	NC_000009.11:g.133759698G>A	(Likely) benign	1 lab	65b862abe8
15:89383234 ACAN G>A	15	89383234	89383234	G	A	ACAN	c.455-9G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89383234G>A	(Likely) benign	1 lab	65b9a36b57
18:20555178 RBBP8 A>G	18	20555178	20555178	A	G	RBBP8	c.424A>G	NM_002894.3	NP_002885.1:p.(Ile142Val)	NC_000018.9:g.20555178A>G	(Likely) benign	1 lab	65ba1d32d0
10:73437335 CDH23 G>A	10	73437335	73437335	G	A	CDH23	c.1637G>A	NM_022124.6	NP_071407.4:p.(Arg546Gln)	NC_000010.10:g.73437335G>A	VUS	1 lab	65bbc1a036
15:65369335 KBTBD13 C>T	15	65369335	65369335	C	T	KBTBD13	c.182C>T	NM_001101362.3	NP_001094832.1:p.(Thr61Met)	NC_000015.9:g.65369335C>T	VUS	1 lab	65bc0aa817
10:89474807 PAPSS2 C>T	10	89474807	89474807	C	T	PAPSS2	c.705C>T	NM_001015880.2	NP_001015880.1:p.(Asp235=)	NC_000010.10:g.89474807C>T	(Likely) benign	1 lab	65bd79f956
20:33222529 PIGU A>G	20	33222529	33222529	A	G	PIGU	c.429-10T>C	NM_080476.5	NP_536724.1:p.?	NC_000020.10:g.33222529A>G	(Likely) benign	1 lab	65bd91b21c
14:45667978 FANCM T>G	14	45667978	45667978	T	G	FANCM	c.5848T>G	NM_020937.4	NP_065988.1:p.(Leu1950Val)	NC_000014.8:g.45667978T>G	VUS	1 lab	21cdf8967c
2:179426861 TTN C>A	2	179426861	179426861	C	A	TTN	c.83998G>T	NM_001267550.2	NP_001254479.2:p.(Gly28000Cys)	NC_000002.11:g.179426861C>A	VUS	1 lab	65be917798
X:128605227 SMARCA1 G>A	X	128605227	128605227	G	A	SMARCA1	c.2519C>T	NM_001282874.2	NP_001269803.1:p.(Pro840Leu)	NC_000023.10:g.128605227G>A	VUS	1 lab	65c05b8478
X:134989150 SAGE1 A>T	X	134989150	134989150	A	T	SAGE1	c.802A>T	NM_001381902.1	NP_001368831.1:p.(Ile268Phe)	NC_000023.10:g.134989150A>T	(Likely) benign	1 lab	65c608dce8
16:2166883 PKD1 G>A	16	2166883	2166883	G	A	PKD1	c.1557C>T	NM_001009944.3	NP_001009944.3:p.(Thr519=)	NC_000016.9:g.2166883G>A	(Likely) benign	1 lab	65c643e405
22:38508548 PLA2G6 G>A	22	38508548	38508548	G	A	PLA2G6	c.2239C>T	NM_003560.4	NP_003551.2:p.(Arg747Trp)	NC_000022.10:g.38508548G>A	(Likely) pathogenic	1 lab	65c68279dc
15:32744780 GOLGA8O G>A	15	32744780	32744780	G	A	GOLGA8O	c.229-8C>T	NM_001277308.1	NP_001264237.1:p.?	NC_000015.9:g.32744780G>A	(Likely) benign	1 lab	65c713de7f
21:45499595 TRAPPC10 A>C	21	45499595	45499595	A	C	TRAPPC10	c.1610+10A>C	NM_003274.5	NP_003265.3:p.?	NC_000021.8:g.45499595A>C	(Likely) benign	1 lab	65c79a1c38
15:75653520 MAN2C1 C>T	15	75653520	75653520	C	T	MAN2C1	c.1327G>A	NM_006715.4	NP_006706.2:p.(Val443Met)	NC_000015.9:g.75653520C>T	(Likely) benign	1 lab	65c7f0882f
12:48545060 ASB8 G>A	12	48545060	48545060	G	A	ASB8	c.158C>T	NM_024095.5	NP_077000.1:p.(Thr53Ile)	NC_000012.11:g.48545060G>A	VUS	1 lab	65caa3089f
8:11614513 GATA4 G>C	8	11614513	11614513	G	C	GATA4	c.1070G>C	NM_001308093.3	NP_001295022.1:p.(Ser357Thr)	NC_000008.10:g.11614513G>C	(Likely) benign	1 lab	65cb4084a5
19:36515354 CLIP3 T>G	19	36515354	36515354	T	G	CLIP3	c.862A>C	NM_015526.3	NP_056341.1:p.(Met288Leu)	NC_000019.9:g.36515354T>G	(Likely) benign	1 lab	65cbf61188
16:86601367 FOXC2 G>A	16	86601367	86601367	G	A	FOXC2	c.426G>A	NM_005251.3	NP_005242.1:p.(Lys142=)	NC_000016.9:g.86601367G>A	(Likely) benign	1 lab	22f12e4039
1:23111440 EPHB2 G>A	1	23111440	23111440	G	A	EPHB2	c.682G>A	NM_017449.5	NP_059145.2:p.(Ala228Thr)	NC_000001.10:g.23111440G>A	VUS	1 lab	65ccdc3556
10:61827746 ANK3 C>T	10	61827746	61827746	C	T	ANK3	c.12266G>A	NM_020987.5	NP_066267.2:p.(Arg4089Gln)	NC_000010.10:g.61827746C>T	VUS	1 lab	65ccf1c710
2:233345166 ECEL1 C>T	2	233345166	233345166	C	T	ECEL1	c.2171G>A	NM_004826.4	NP_004817.2:p.(Arg724Gln)	NC_000002.11:g.233345166C>T	VUS	1 lab	65ce28682b
12:5020587 KCNA1 G>T	12	5020587	5020587	G	T	KCNA1	c.43G>T	NM_000217.3	NP_000208.2:p.(Ala15Ser)	NC_000012.11:g.5020587G>T	(Likely) benign	1 lab	65d04ad942
6:33134507 COL11A2 T>A	6	33134507	33134507	T	A	COL11A2	c.4328A>T	NM_080680.3	NP_542411.2:p.(Lys1443Met)	NC_000006.11:g.33134507T>A	VUS	1 lab	65d05e5500
6:31927895 SKIC2 C>T	6	31927895	31927895	C	T	SKIC2	c.235C>T	NM_006929.5	NP_008860.4:p.(Arg79Ter)	NC_000006.11:g.31927895C>T	(Likely) pathogenic	1 lab	65d3c50a47
2:166226714 SCN2A A>G	2	166226714	166226714	A	G	SCN2A	c.3754A>G	NM_001040142.2	NP_001035232.1:p.(Ile1252Val)	NC_000002.11:g.166226714A>G	(Likely) pathogenic	1 lab	65d40ca6b1
12:50746442 FAM186A C>G	12	50746442	50746442	C	G	FAM186A	c.4173G>C	NM_001145475.3	NP_001138947.1:p.(Gln1391His)	NC_000012.11:g.50746442C>G	VUS	1 lab	65d6a65f08
17:6498287 KIAA0753 C>CTCA	17	6498287	6498290	C	CTCA	KIAA0753	c.2440+2_2440+4dup	NM_014804.3	NP_055619.2:p.?	NC_000017.10:g.6498288_6498290dup	(Likely) benign	1 lab	65d7eb7485
19:11312678 DOCK6 C>T	19	11312678	11312678	C	T	DOCK6	c.5575G>A	NM_020812.4	NP_065863.2:p.(Asp1859Asn)	NC_000019.9:g.11312678C>T	VUS	1 lab	65d867e3b2
17:7798266 CHD3 A>G	17	7798266	7798266	A	G	CHD3	c.1478A>G	NM_001005271.3	NP_001005271.2:p.(Glu493Gly)	NC_000017.10:g.7798266A>G	VUS	1 lab	21cfc1cbdc
8:141294119 TRAPPC9 AC>A	8	141294119	141294121	AC	A	TRAPPC9	c.1982del	NM_001160372.4	NP_001153844.1:p.(Gly661ValfsTer21)	NC_000008.10:g.141294121del	(Likely) pathogenic	1 lab	65d916bc44
8:94767979 TMEM67 CT>C	8	94767979	94768003	CT	C	TMEM67	c.224-3del	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94768003del	(Likely) benign	1 lab	65da6980da
19:15302884 NOTCH3 T>C	19	15302884	15302884	T	C	NOTCH3	c.566A>G	NM_000435.3	NP_000426.2:p.(Tyr189Cys)	NC_000019.9:g.15302884T>C	(Likely) pathogenic	1 lab	65db1e1006
X:100662813 GLA G>A	X	100662813	100662813	G	A	GLA	c.79C>T	NM_000169.3	NP_000160.1:p.(Pro27Ser)	NC_000023.10:g.100662813G>A	(Likely) benign	1 lab	65dc79712e
19:15272240 NOTCH3 G>T	19	15272240	15272240	G	T	NOTCH3	c.6199C>A	NM_000435.3	NP_000426.2:p.(Pro2067Thr)	NC_000019.9:g.15272240G>T	VUS	1 lab	65dcd9fce7
7:127970964 RBM28 G>T	7	127970964	127970964	G	T	RBM28	c.1037C>A	NM_018077.3	NP_060547.2:p.(Ser346Ter)	NC_000007.13:g.127970964G>T	VUS	1 lab	65ddbeb3d0
1:152193233 HRNR C>T	1	152193233	152193233	C	T	HRNR	c.872G>A	NM_001009931.3	NP_001009931.1:p.(Arg291His)	NC_000001.10:g.152193233C>T	(Likely) benign	1 lab	65dfcf7de0
14:59003724 KIAA0586 G>T	14	59003724	59003724	G	T	KIAA0586	c.4430-3065G>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003724G>T	(Likely) benign	1 lab	65dff3d73f
16:20814156 ERI2 G>C	16	20814156	20814156	G	C	ERI2	c.265C>G	NM_001142725.2	NP_001136197.1:p.(Leu89Val)	NC_000016.9:g.20814156G>C	VUS	1 lab	65e0904901
14:51224294 NIN C>A	14	51224294	51224294	C	A	NIN	c.3454G>T	NM_020921.4	NP_065972.4:p.(Val1152Phe)	NC_000014.8:g.51224294C>A	(Likely) benign	1 lab	65e181f25f
17:7340567 TMEM102 C>A	17	7340567	7340567	C	A	TMEM102	c.1269C>A	NM_178518.3	NP_848613.1:p.(Tyr423Ter)	NC_000017.10:g.7340567C>A	VUS	1 lab	66b8f611ca
6:13325357 TBC1D7 C>G	6	13325357	13325357	C	G	TBC1D7	c.162G>C	NM_016495.6	NP_057579.1:p.(Met54Ile)	NC_000006.11:g.13325357C>G	VUS	1 lab	65e204ed20
2:179549440 TTN T>C	2	179549440	179549440	T	C	TTN	c.32591A>G	NM_001267550.2	NP_001254479.2:p.(Lys10864Arg)	NC_000002.11:g.179549440T>C	VUS	1 lab	65e2220c15
6:132190629 ENPP1 T>C	6	132190629	132190629	T	C	ENPP1	c.1405T>C	NM_006208.3	NP_006199.2:p.(Phe469Leu)	NC_000006.11:g.132190629T>C	VUS	1 lab	65e41184ea
1:2157433 SKI T>C	1	2157433	2157433	T	C	SKI				NC_000001.10:g.2157433T>C	(Likely) benign	1 lab	65e440ea4e
1:172411297 C1orf105 TG>T	1	172411297	172411298	TG	T	C1orf105	c.22-2915del	NM_139240.4	NP_640333.3:p.?	NC_000001.10:g.172411298del	(Likely) pathogenic	1 lab	65e579ca0b
5:42711390 GHR C>G	5	42711390	42711390	C	G	GHR	c.700C>G	NM_000163.5	NP_000154.1:p.(Gln234Glu)	NC_000005.9:g.42711390C>G	VUS	1 lab	65e5f4ca96
7:107618485 LAMB1 G>A	7	107618485	107618485	G	A	LAMB1	c.1000+7C>T	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107618485G>A	(Likely) benign	1 lab	65e602a402
8:144874036 SCRIB G>A	8	144874036	144874036	G	A	SCRIB	c.4695+10C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144874036G>A	(Likely) benign	1 lab	65e60be9bb
16:89713078 CHMP1A C>T	16	89713078	89713078	C	T	CHMP1A	c.426G>A	NM_002768.5	NP_002759.2:p.(Pro142=)	NC_000016.9:g.89713078C>T	VUS	1 lab	65e877a043
1:152283739 FLG T>C	1	152283739	152283739	T	C	FLG	c.3623A>G	NM_002016.2	NP_002007.1:p.(His1208Arg)	NC_000001.10:g.152283739T>C	(Likely) benign	1 lab	65ea6d9e81
9:134503323 RAPGEF1 C>T	9	134503323	134503323	C	T	RAPGEF1	c.1178G>A	NM_001377935.1	NP_001364864.1:p.(Arg393Gln)	NC_000009.11:g.134503323C>T	(Likely) benign	1 lab	65eaab2acf
1:6268969 RNF207 C>T	1	6268969	6268969	C	T	RNF207	c.353C>T	NM_207396.3	NP_997279.2:p.(Thr118Met)	NC_000001.10:g.6268969C>T	VUS	1 lab	230066129c
6:54002335 MLIP T>A	6	54002335	54002335	T	A	MLIP	c.1468T>A	NM_001281747.2	NP_001268676.1:p.(Ser490Thr)	NC_000006.11:g.54002335T>A	(Likely) benign	1 lab	65eb5a75fd
7:128483917 FLNC T>C	7	128483917	128483917	T	C	FLNC	c.2879T>C	NM_001458.5	NP_001449.3:p.(Val960Ala)	NC_000007.13:g.128483917T>C	VUS	1 lab	65eb652db3
19:13365962 CACNA1A C>T	19	13365962	13365962	C	T	CACNA1A	c.4702G>A	NM_001127222.2	NP_001120694.1:p.(Glu1568Lys)	NC_000019.9:g.13365962C>T	VUS	1 lab	65eb959c25
2:219674479 CYP27A1 G>T	2	219674479	219674479	G	T	CYP27A1	c.435G>T	NM_000784.4	NP_000775.1:p.(Gly145=)	NC_000002.11:g.219674479G>T	VUS	1 lab	65ebb5c36d
17:68171379 KCNJ2 C>T	17	68171379	68171379	C	T	KCNJ2	c.199C>T	NM_000891.3	NP_000882.1:p.(Arg67Trp)	NC_000017.10:g.68171379C>T	(Likely) pathogenic	1 lab	65ec4c1a56
7:44186067 GCK C>T	7	44186067	44186067	C	T	GCK	c.1014G>A	NM_000162.5	NP_000153.1:p.(Val338=)	NC_000007.13:g.44186067C>T	(Likely) pathogenic	1 lab	65f26536fc
12:132466815 EP400 C>T	12	132466815	132466815	C	T	EP400	c.1721C>T	NM_015409.5	NP_056224.3:p.(Ala574Val)	NC_000012.11:g.132466815C>T	(Likely) benign	1 lab	65f33ffbe3
12:133215825 POLE T>A	12	133215825	133215825	T	A	POLE	c.5438A>T	NM_006231.4	NP_006222.2:p.(Tyr1813Phe)	NC_000012.11:g.133215825T>A	VUS	1 lab	65f3740896
18:43438592 EPG5 A>C	18	43438592	43438592	A	C	EPG5	c.7165T>G	NM_020964.3	NP_066015.2:p.(Leu2389Val)	NC_000018.9:g.43438592A>C	VUS	1 lab	65f4ffca3f
6:152774860 SYNE1 C>T	6	152774860	152774860	C	T	SYNE1	c.2893-5G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152774860C>T	(Likely) benign	1 lab	65f68ff58b
15:49160051 SHC4 C>A	15	49160051	49160051	C	A	SHC4	c.910G>T	NM_203349.4	NP_976224.3:p.(Val304Phe)	NC_000015.9:g.49160051C>A	VUS	1 lab	65f8ae88e2
1:109840856 MYBPHL G>A	1	109840856	109840856	G	A	MYBPHL	c.169C>T	NM_001010985.3	NP_001010985.2:p.(Arg57Trp)	NC_000001.10:g.109840856G>A	VUS	1 lab	65f95fff75
19:11144550 SMARCA4 G>C	19	11144550	11144550	G	C	SMARCA4	c.3873+9G>C	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11144550G>C	(Likely) benign	1 lab	65fae5aa44
16:2809586 SRRM2 C>T	16	2809586	2809586	C	T	SRRM2	c.757C>T	NM_016333.4	NP_057417.3:p.(Pro253Ser)	NC_000016.9:g.2809586C>T	VUS	1 lab	65fd2aad6c
17:7797141 CHD3 G>A	17	7797141	7797141	G	A	CHD3	c.989G>A	NM_001005271.3	NP_001005271.2:p.(Arg330Gln)	NC_000017.10:g.7797141G>A	VUS	1 lab	21d0c84181
17:74729691 METTL23 G>A	17	74729691	74729691	G	A	METTL23	c.496G>A	NM_001080510.5	NP_001073979.3:p.(Asp166Asn)	NC_000017.10:g.74729691G>A	(Likely) benign	1 lab	65fef979db
12:121426642 HNF1A C>G	12	121426642	121426642	C	G	HNF1A	c.333C>G	NM_000545.8	NP_000536.6:p.(Asp111Glu)	NC_000012.11:g.121426642C>G	(Likely) pathogenic	1 lab	65fefda7bd
8:144998932 PLEC G>A	8	144998932	144998932	G	A	PLEC	c.5165C>T	NM_201384.3	NP_958786.1:p.(Thr1722Met)	NC_000008.10:g.144998932G>A	(Likely) benign	1 lab	65fffcb046
22:41545038 EP300 T>C	22	41545038	41545038	T	C	EP300	c.2242-4T>C	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41545038T>C	(Likely) benign	1 lab	66014601d8
16:15814740 MYH11 G>A	16	15814740	15814740	G	A	MYH11	c.4747C>T	NM_002474.3	NP_002465.1:p.(Arg1583Trp)	NC_000016.9:g.15814740G>A	VUS	1 lab	66015b5a03
14:23899115 MYH7 A>G	14	23899115	23899115	A	G	MYH7	c.1007T>C	NM_000257.4	NP_000248.2:p.(Phe336Ser)	NC_000014.8:g.23899115A>G	VUS	1 lab	6601c96463
11:126147416 FOXRED1 G>C	11	126147416	126147416	G	C	FOXRED1	c.1293G>C	NM_017547.4	NP_060017.1:p.(Met431Ile)	NC_000011.9:g.126147416G>C	VUS	1 lab	6602b7f14c
2:241676576 KIF1A C>T	2	241676576	241676576	C	T	KIF1A	c.3911G>A	NM_001244008.2	NP_001230937.1:p.(Arg1304Gln)	NC_000002.11:g.241676576C>T	VUS	1 lab	66030a5858
1:6158547 KCNAB2 C>T	1	6158547	6158547	C	T	KCNAB2	c.1161C>T	NM_001199862.2	NP_001186791.1:p.(Val387=)	NC_000001.10:g.6158547C>T	(Likely) benign	1 lab	660441ac54
11:64695776 PPP2R5B C>G	11	64695776	64695776	C	G	PPP2R5B	c.601C>G	NM_006244.4	NP_006235.1:p.(Leu201Val)	NC_000011.9:g.64695776C>G	VUS	1 lab	6604f1f92d
6:51524041 PKHD1 G>A	6	51524041	51524041	G	A	PKHD1	c.10883C>T	NM_138694.4	NP_619639.3:p.(Thr3628Ile)	NC_000006.11:g.51524041G>A	(Likely) benign	1 lab	66073fe554
1:38018306 SNIP1 GCTT>G	1	38018306	38018314	GCTT	G	SNIP1	c.264_266del	NM_024700.4	NP_078976.2:p.(Arg88del)	NC_000001.10:g.38018312_38018314del	VUS	1 lab	660775982d
15:45428146 DUOX1 G>A	15	45428146	45428146	G	A	DUOX1	c.864G>A	NM_175940.3	NP_787954.1:p.(Gln288=)	NC_000015.9:g.45428146G>A	VUS	1 lab	6607784a89
1:29631360 PTPRU C>T	1	29631360	29631360	C	T	PTPRU	c.2742C>T	NM_133178.4	NP_573439.2:p.(Ala914=)	NC_000001.10:g.29631360C>T	(Likely) benign	1 lab	6607fe4a8e
2:26022295 ASXL2 C>T	2	26022295	26022295	C	T	ASXL2	c.362G>A	NM_018263.6	NP_060733.4:p.(Gly121Asp)	NC_000002.11:g.26022295C>T	VUS	1 lab	6613cd7788
17:7724673 DNAH2 C>T	17	7724673	7724673	C	T	DNAH2	c.11128C>T	NM_020877.5	NP_065928.2:p.(Leu3710=)	NC_000017.10:g.7724673C>T	VUS	1 lab	66097ab8ae
X:3533937 PRKX C>T	X	3533937	3533937	C	T	PRKX	c.874-4G>A	NM_005044.5	NP_005035.1:p.?	NC_000023.10:g.3533937C>T	(Likely) benign	1 lab	6609d5f260
5:176639066 NSD1 T>C	5	176639066	176639066	T	C	NSD1	c.3666T>C	NM_022455.5	NP_071900.2:p.(Asn1222=)	NC_000005.9:g.176639066T>C	(Likely) benign	1 lab	660b7bfaff
1:240370964 FMN2 C>CA	1	240370964	240370965	C	CA	FMN2	c.2852_2853insA	NM_020066.5	NP_064450.3:p.(Ala952GlyfsTer301)	NC_000001.10:g.240370964_240370965insA	(Likely) benign	1 lab	660b86a731
4:114277663 ANK2 G>A	4	114277663	114277663	G	A	ANK2	c.7889G>A	NM_001148.6	NP_001139.3:p.(Cys2630Tyr)	NC_000004.11:g.114277663G>A	(Likely) benign	1 lab	660d82c0bc
9:34658574 IL11RA G>A	9	34658574	34658574	G	A	IL11RA	c.704G>A	NM_001142784.3	NP_001136256.1:p.(Arg235His)	NC_000009.11:g.34658574G>A	VUS	1 lab	660dd954fd
4:83776052 SEC31A T>C	4	83776052	83776052	T	C	SEC31A	c.2008+4A>G	NM_001077207.4	NP_001070675.1:p.?	NC_000004.11:g.83776052T>C	VUS	1 lab	660e468f25
7:98516910 TRRAP G>A	7	98516910	98516910	G	A	TRRAP	c.2622+1608G>A	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98516910G>A	(Likely) benign	1 lab	660e86f699
11:71941033 INPPL1 G>C	11	71941033	71941033	G	C	INPPL1	c.909G>C	NM_001567.4	NP_001558.3:p.(Lys303Asn)	NC_000011.9:g.71941033G>C	(Likely) benign	1 lab	660ee76f6c
15:99452118 IGF1R G>A	15	99452118	99452118	G	A	IGF1R	c.1452G>A	NM_000875.5	NP_000866.1:p.(Glu484=)	NC_000015.9:g.99452118G>A	(Likely) benign	1 lab	660fc8d29c
8:11403601 BLK A>G	8	11403601	11403601	A	G	BLK	c.164A>G	NM_001715.3	NP_001706.2:p.(His55Arg)	NC_000008.10:g.11403601A>G	VUS	1 lab	660fcd4fb1
7:101758517 CUX1 A>T	7	101758517	101758517	A	T	CUX1	c.638A>T	NM_181552.4	NP_853530.2:p.(Asp213Val)	NC_000007.13:g.101758517A>T	VUS	1 lab	6611c8e76b
21:38309657 HLCS T>A	21	38309657	38309657	T	A	HLCS	c.529A>T	NM_001352514.2	NP_001339443.1:p.(Lys177Ter)	NC_000021.8:g.38309657T>A	VUS	1 lab	66134f7308
4:5759833 EVC C>T	4	5759833	5759833	C	T	EVC	c.1563+1744C>T	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5759833C>T	VUS	1 lab	661481fe33
2:25988182 ASXL2 G>A	2	25988182	25988182	G	A	ASXL2	c.775+2270C>T	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25988182G>A	(Likely) benign	1 lab	661708b7c5
14:45633647 FANCM A>G	14	45633647	45633647	A	G	FANCM	c.1667A>G	NM_020937.4	NP_065988.1:p.(Asp556Gly)	NC_000014.8:g.45633647A>G	VUS	1 lab	6617d2a044
11:68133162 LRP5 G>A	11	68133162	68133162	G	A	LRP5	c.1007G>A	NM_002335.4	NP_002326.2:p.(Cys336Tyr)	NC_000011.9:g.68133162G>A	VUS	1 lab	6617ecda9a
4:1806127 FGFR3 C>T	4	1806127	1806127	C	T	FGFR3	c.1146C>T	NM_000142.5	NP_000133.1:p.(Gly382=)	NC_000004.11:g.1806127C>T	(Likely) benign	1 lab	66191978a7
10:74326409 MICU1 G>A	10	74326409	74326409	G	A	MICU1	c.143C>T	NM_001195518.2	NP_001182447.1:p.(Thr48Ile)	NC_000010.10:g.74326409G>A	(Likely) benign	1 lab	661b091568
2:241512535 RNPEPL1 G>A	2	241512535	241512535	G	A	RNPEPL1	c.678G>A	NM_018226.6	NP_060696.4:p.(Ser226=)	NC_000002.11:g.241512535G>A	VUS	1 lab	661c00772d
10:27342285 ANKRD26 CTCT>C	10	27342285	27342294	CTCT	C	ANKRD26	c.1596_1598del	NM_014915.3	NP_055730.2:p.(Glu533del)	NC_000010.10:g.27342292_27342294del	(Likely) benign	1 lab	661c94321e
17:38955770 KRT28 C>T	17	38955770	38955770	C	T	KRT28	c.376G>A	NM_181535.3	NP_853513.2:p.(Gly126Arg)	NC_000017.10:g.38955770C>T	VUS	1 lab	661c9d9572
22:30074317 NF2 G>A	22	30074317	30074317	G	A	NF2	c.1574+5G>A	NM_000268.4	NP_000259.1:p.?	NC_000022.10:g.30074317G>A	VUS	1 lab	661cd6946e
2:143799644 KYNU G>A	2	143799644	143799644	G	A	KYNU	c.1301G>A	NM_003937.3	NP_003928.1:p.(Arg434Gln)	NC_000002.11:g.143799644G>A	(Likely) pathogenic	1 lab	661e252d77
11:829469 CRACR2B T>TGAG	11	829469	829480	T	TGAG	CRACR2B	c.396_398dup	NM_001286606.2	NP_001273535.1:p.(Glu136dup)	NC_000011.9:g.829478_829480dup	(Likely) benign	1 lab	66214ab691
9:138683984 KCNT1 A>G	9	138683984	138683984	A	G	KCNT1	c.3685A>G	NM_020822.3	NP_065873.2:p.(Thr1229Ala)	NC_000009.11:g.138683984A>G	(Likely) benign	1 lab	21d1de10ab
1:202731930 KDM5B T>G	1	202731930	202731930	T	G	KDM5B	c.815A>C	NM_006618.5	NP_006609.3:p.(Glu272Ala)	NC_000001.10:g.202731930T>G	VUS	1 lab	66235a81f8
9:93976674 AUH G>T	9	93976674	93976674	G	T	AUH	c.976C>A	NM_001698.3	NP_001689.1:p.(Leu326Ile)	NC_000009.11:g.93976674G>T	(Likely) benign	1 lab	6624e03fe5
4:128803026 PLK4 C>G	4	128803026	128803026	C	G	PLK4	c.71C>G	NM_014264.5	NP_055079.3:p.(Ala24Gly)	NC_000004.11:g.128803026C>G	VUS	1 lab	6625c33307
5:70805293 BDP1 G>A	5	70805293	70805293	G	A	BDP1	c.2374G>A	NM_018429.3	NP_060899.2:p.(Val792Ile)	NC_000005.9:g.70805293G>A	VUS	1 lab	6626c94019
3:9726615 MTMR14 A>G	3	9726615	9726615	A	G	MTMR14	c.1094A>G	NM_001077525.3	NP_001070993.1:p.(Tyr365Cys)	NC_000003.11:g.9726615A>G	(Likely) benign	1 lab	662744e827
21:44485553 CBS C>T	21	44485553	44485553	C	T	CBS	c.610G>A	NM_000071.3	NP_000062.1:p.(Val204Met)	NC_000021.8:g.44485553C>T	VUS	1 lab	662839331a
16:335151 PDIA2 G>T	16	335151	335151	G	T	PDIA2	c.746G>T	NM_006849.4	NP_006840.2:p.(Arg249Leu)	NC_000016.9:g.335151G>T	(Likely) benign	1 lab	662856b6ac
19:2433641 LMNB2 G>A	19	2433641	2433641	G	A	LMNB2	c.1482+183C>T	NM_032737.4	NP_116126.3:p.?	NC_000019.9:g.2433641G>A	(Likely) benign	1 lab	662867e051
2:122106153 CLASP1 C>T	2	122106153	122106153	C	T	CLASP1	c.4411G>A	NM_001395891.1	NP_001382820.1:p.(Val1471Ile)	NC_000002.11:g.122106153C>T	VUS	1 lab	662971b851
X:150840706 PASD1 CGGGA>C	X	150840706	150840711	CGGGA	C	PASD1	c.1491_1494del	NM_173493.3	NP_775764.2:p.(Glu498SerfsTer5)	NC_000023.10:g.150840708_150840711del	VUS	1 lab	662a94cd2d
7:34192805 BMPER G>A	7	34192805	34192805	G	A	BMPER	c.1978G>A	NM_001365308.1	NP_001352237.1:p.(Val660Ile)	NC_000007.13:g.34192805G>A	VUS	1 lab	662b2a1aad
9:135771700 TSC1 G>T	9	135771700	135771700	G	T	TSC1	c.3417C>A	NM_000368.5	NP_000359.1:p.(His1139Gln)	NC_000009.11:g.135771700G>T	(Likely) benign	1 lab	662db8b1fa
15:57525034 TCF12 A>G	15	57525034	57525034	A	G	TCF12	c.950A>G	NM_207037.2	NP_996920.1:p.(Asn317Ser)	NC_000015.9:g.57525034A>G	(Likely) benign	1 lab	662f78ca0f
12:48373337 COL2A1 C>T	12	48373337	48373337	C	T	COL2A1	c.2690G>A	NM_001844.5	NP_001835.3:p.(Gly897Glu)	NC_000012.11:g.48373337C>T	(Likely) pathogenic	1 lab	21d22f1975
17:40717732 COASY G>A	17	40717732	40717732	G	A	COASY	c.1541G>A	NM_025233.7	NP_079509.5:p.(Arg514Gln)	NC_000017.10:g.40717732G>A	VUS	1 lab	6633822663
17:11543588 DNAH9 G>A	17	11543588	11543588	G	A	DNAH9	c.1788G>A	NM_001372.4	NP_001363.2:p.(Gly596=)	NC_000017.10:g.11543588G>A	(Likely) benign	1 lab	6635067ef9
1:168066246 GPR161 G>A	1	168066246	168066246	G	A	GPR161	c.599C>T	NM_001375883.1	NP_001362812.1:p.(Pro200Leu)	NC_000001.10:g.168066246G>A	VUS	1 lab	6635dfc40c
3:50369236 RASSF1 G>A	3	50369236	50369236	G	A	RASSF1	c.514C>T	NM_007182.5	NP_009113.3:p.(Arg172Cys)	NC_000003.11:g.50369236G>A	VUS	1 lab	6635e22770
18:7049100 LAMA1 G>C	18	7049100	7049100	G	C	LAMA1	c.745C>G	NM_005559.4	NP_005550.2:p.(Leu249Val)	NC_000018.9:g.7049100G>C	(Likely) benign	1 lab	66369f07ea
10:64575743 EGR2 C>G	10	64575743	64575743	C	G	EGR2	c.47G>C	NM_000399.5	NP_000390.2:p.(Gly16Ala)	NC_000010.10:g.64575743C>G	(Likely) benign	1 lab	66375f81fb
17:61498207 TANC2 G>T	17	61498207	61498207	G	T	TANC2	c.5116G>T	NM_001394998.1	NP_001381927.1:p.(Val1706Phe)	NC_000017.10:g.61498207G>T	(Likely) benign	1 lab	6637af2583
6:168927062 SMOC2 A>G	6	168927062	168927062	A	G	SMOC2	c.293A>G	NM_001166412.2	NP_001159884.1:p.(Gln98Arg)	NC_000006.11:g.168927062A>G	(Likely) benign	1 lab	663a18d4f9
X:47426773 ARAF G>A	X	47426773	47426773	G	A	ARAF	c.1018G>A	NM_001654.5	NP_001645.1:p.(Val340Met)	NC_000023.10:g.47426773G>A	VUS	1 lab	663a76009b
11:103173813 DYNC2H1 A>G	11	103173813	103173813	A	G	DYNC2H1	c.11096-9A>G	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103173813A>G	(Likely) benign	1 lab	663b472702
19:7152718 INSR C>CAT	19	7152718	7152719	C	CAT	INSR	c.2231+18_2231+19insAT	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7152718_7152719insAT	(Likely) benign	1 lab	663bbf89e1
14:21896022 CHD8 A>T	14	21896022	21896022	A	T	CHD8	c.1601+6T>A	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21896022A>T	VUS	1 lab	663beea833
21:34072138 SYNJ1 A>G	21	34072138	34072138	A	G	SYNJ1	c.479+10T>C	NM_203446.3	NP_982271.3:p.?	NC_000021.8:g.34072138A>G	(Likely) benign	1 lab	663c6e018a
22:21347967 LZTR1 A>T	22	21347967	21347967	A	T	LZTR1	c.1277A>T	NM_006767.4	NP_006758.2:p.(Lys426Ile)	NC_000022.10:g.21347967A>T	VUS	1 lab	663c94d9a1
11:47597140 KBTBD4 C>G	11	47597140	47597140	C	G	KBTBD4	c.744+5G>C	NM_018095.6	NP_060565.4:p.?	NC_000011.9:g.47597140C>G	(Likely) benign	1 lab	663c9f37f0
19:21719358 ZNF429 C>A	19	21719358	21719358	C	A	ZNF429	c.503C>A	NM_001001415.4	NP_001001415.2:p.(Thr168Asn)	NC_000019.9:g.21719358C>A	(Likely) benign	1 lab	663ca6c11b
2:216262400 FN1 T>C	2	216262400	216262400	T	C	FN1	c.3517+3A>G	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216262400T>C	(Likely) benign	1 lab	23064fd615
12:6637870 NCAPD2 C>T	12	6637870	6637870	C	T	NCAPD2	c.3325C>T	NM_014865.4	NP_055680.3:p.(Arg1109Trp)	NC_000012.11:g.6637870C>T	VUS	1 lab	663f731232
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844595	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9331-3_9331-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100844594_100844595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VUS	1 lab	663fca9245
20:1224758 RAD21L1 A>G	20	1224758	1224758	A	G	RAD21L1	c.1252A>G	NM_001384355.1	NP_001371284.1:p.(Ile418Val)	NC_000020.10:g.1224758A>G	(Likely) benign	1 lab	6640380ca3
20:3214873 SLC4A11 C>G	20	3214873	3214873	C	G	SLC4A11	c.379G>C	NM_001174089.2	NP_001167560.1:p.(Glu127Gln)	NC_000020.10:g.3214873C>G	VUS	1 lab	6640acc8fb
13:100634970 ZIC2 A>G	13	100634970	100634970	A	G	ZIC2	c.652A>G	NM_007129.5	NP_009060.2:p.(Asn218Asp)	NC_000013.10:g.100634970A>G	VUS	1 lab	66418efbe6
8:48866909 PRKDC AT>A	8	48866909	48866919	AT	A	PRKDC	c.496del	NM_006904.7	NP_008835.5:p.(Ile166TyrfsTer6)	NC_000008.10:g.48866919del	(Likely) pathogenic	1 lab	230806da80
2:40392088 SLC8A1 T>A	2	40392088	40392088	T	A	SLC8A1	c.2075A>T	NM_021097.4	NP_066920.1:p.(Glu692Val)	NC_000002.11:g.40392088T>A	(Likely) benign	1 lab	2309db9ac4
19:14031398 CC2D1A A>C	19	14031398	14031398	A	C	CC2D1A	c.1385A>C	NM_017721.5	NP_060191.3:p.(Gln462Pro)	NC_000019.9:g.14031398A>C	VUS	1 lab	21d8fb4c00
15:99434677 IGF1R A>G	15	99434677	99434677	A	G	IGF1R	c.764A>G	NM_000875.5	NP_000866.1:p.(Tyr255Cys)	NC_000015.9:g.99434677A>G	VUS	1 lab	6645bb02e6
17:648438 GEMIN4 G>A	17	648438	648438	G	A	GEMIN4	c.2845C>T	NM_015721.3	NP_056536.2:p.(Arg949Cys)	NC_000017.10:g.648438G>A	VUS	1 lab	664cdc7203
5:141059570 ARAP3 C>T	5	141059570	141059570	C	T	ARAP3	c.484G>A	NM_022481.6	NP_071926.4:p.(Gly162Ser)	NC_000005.9:g.141059570C>T	(Likely) benign	1 lab	66465fef33
22:44280150 PNPLA5 G>A	22	44280150	44280150	G	A	PNPLA5	c.1025C>T	NM_138814.4	NP_620169.1:p.(Thr342Met)	NC_000022.10:g.44280150G>A	(Likely) benign	1 lab	66466362a1
X:32360316 DMD G>C	X	32360316	32360316	G	C	DMD	c.5454C>G	NM_004010.3	NP_004001.1:p.(Ala1818=)	NC_000023.10:g.32360316G>C	(Likely) benign	1 lab	230afe4cd4
3:46939686 PTH1R C>T	3	46939686	46939686	C	T	PTH1R	c.543+4C>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46939686C>T	VUS	1 lab	6647b5fdcd
6:51875107 PKHD1 C>T	6	51875107	51875107	C	T	PKHD1	c.5751G>A	NM_138694.4	NP_619639.3:p.(Gln1917=)	NC_000006.11:g.51875107C>T	VUS	1 lab	664951e4e9
1:152277407 FLG G>C	1	152277407	152277407	G	C	FLG	c.9955C>G	NM_002016.2	NP_002007.1:p.(Pro3319Ala)	NC_000001.10:g.152277407G>C	(Likely) benign	1 lab	6649ddfb92
2:20135321 WDR35 G>A	2	20135321	20135321	G	A	WDR35	c.2458C>T	NM_020779.4	NP_065830.2:p.(Arg820Cys)	NC_000002.11:g.20135321G>A	VUS	1 lab	664acafcee
11:3113696 OSBPL5 G>A	11	3113696	3113696	G	A	OSBPL5	c.2225C>T	NM_020896.4	NP_065947.1:p.(Thr742Ile)	NC_000011.9:g.3113696G>A	(Likely) benign	1 lab	664b0caefa
3:12421243 PPARG C>G	3	12421243	12421243	C	G	PPARG	c.33C>G	NM_138711.6	NP_619725.3:p.(Thr11=)	NC_000003.11:g.12421243C>G	(Likely) benign	1 lab	664c4398e1
11:17416762 ABCC8 G>A	11	17416762	17416762	G	A	ABCC8	c.4368C>T	NM_000352.6	NP_000343.2:p.(Ile1456=)	NC_000011.9:g.17416762G>A	(Likely) benign	1 lab	664c4cad23
X:77369620 PGK1 A>C	X	77369620	77369620	A	C	PGK1	c.380A>C	NM_000291.4	NP_000282.1:p.(Glu127Ala)	NC_000023.10:g.77369620A>C	VUS	1 lab	664d0a8891
11:2906147 CDKN1C G>GGCCGGAGCCGGA	11	2906147	2906170	G	GGCCGGAGCCGGA	CDKN1C	c.528_539dup	NM_001122630.2	NP_001116102.1:p.(Ala180_Pro183dup)	NC_000011.9:g.2906159_2906170dup	VUS	1 lab	664d122d34
3:180703706 DNAJC19 CTACT>C	3	180703706	180703713	CTACT	C	DNAJC19	c.280+4_280+7del	NM_145261.4	NP_660304.1:p.?	NC_000003.11:g.180703710_180703713del	VUS	1 lab	664dce4bf6
11:4107811 STIM1 C>T	11	4107811	4107811	C	T	STIM1	c.1634+38C>T	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4107811C>T	(Likely) benign	1 lab	664eb839be
16:88872927 CDT1 G>T	16	88872927	88872927	G	T	CDT1	c.967G>T	NM_030928.4	NP_112190.2:p.(Val323Leu)	NC_000016.9:g.88872927G>T	(Likely) benign	1 lab	664ec2e0bf
8:68419101 CPA6 T>C	8	68419101	68419101	T	C	CPA6	c.557A>G	NM_020361.5	NP_065094.3:p.(Lys186Arg)	NC_000008.10:g.68419101T>C	VUS	1 lab	665031655b
20:34526869 PHF20 G>A	20	34526869	34526869	G	A	PHF20	c.2551G>A	NM_016436.5	NP_057520.2:p.(Val851Met)	NC_000020.10:g.34526869G>A	VUS	1 lab	6650e8867c
17:29298416 RNF135 C>T	17	29298416	29298416	C	T	RNF135	c.325C>T	NM_032322.4	NP_115698.3:p.(Leu109Phe)	NC_000017.10:g.29298416C>T	(Likely) benign	1 lab	665144b295
1:39853356 MACF1 A>G	1	39853356	39853356	A	G	MACF1	c.14842A>G	NM_001394062.1	NP_001380991.1:p.(Met4948Val)	NC_000001.10:g.39853356A>G	(Likely) benign	1 lab	6651805f11
3:128694733 CFAP92 T>C	3	128694733	128694733	T	C	CFAP92	c.910A>G	NM_001394090.1	NP_001381019.1:p.(Arg304Gly)	NC_000003.11:g.128694733T>C	VUS	1 lab	66537c05ae
X:124456133 TEX13C G>A	X	124456133	124456133	G	A	TEX13C	c.2165G>A	NM_001195272.2	NP_001182201.1:p.(Gly722Asp)	NC_000023.10:g.124456133G>A	VUS	1 lab	66548b64b2
11:93439901 CEP295 T>C	11	93439901	93439901	T	C	CEP295	c.5597-10T>C	NM_033395.2	NP_203753.1:p.?	NC_000011.9:g.93439901T>C	(Likely) benign	1 lab	66557999d9
8:77766934 ZFHX4 AAAG>A	8	77766934	77766940	AAAG	A	ZFHX4	c.7781_7783del	NM_024721.5	NP_078997.4:p.(Glu2594del)	NC_000008.10:g.77766938_77766940del	VUS	1 lab	6655b410b5
13:111156331 COL4A2 G>A	13	111156331	111156331	G	A	COL4A2	c.4276G>A	NM_001846.4	NP_001837.2:p.(Gly1426Arg)	NC_000013.10:g.111156331G>A	VUS	1 lab	6655fa6602
22:42914084 RRP7A C>T	22	42914084	42914084	C	T	RRP7A	c.143G>A	NM_015703.5	NP_056518.2:p.(Arg48Gln)	NC_000022.10:g.42914084C>T	VUS	1 lab	673db90c47
19:13323033 CACNA1A G>T	19	13323033	13323033	G	T	CACNA1A	c.6193-3C>A	NM_001127221.2	NP_001120693.1:p.?	NC_000019.9:g.13323033G>T	(Likely) benign	1 lab	21dc9e3c25
15:66222114 MEGF11 C>T	15	66222114	66222114	C	T	MEGF11	c.1516G>A	NM_001385028.1	NP_001371957.1:p.(Gly506Ser)	NC_000015.9:g.66222114C>T	VUS	1 lab	66563eb375
13:39261657 FREM2 G>A	13	39261657	39261657	G	A	FREM2	c.176G>A	NM_207361.6	NP_997244.4:p.(Gly59Asp)	NC_000013.10:g.39261657G>A	(Likely) benign	1 lab	6657cf71d3
1:147091250 BCL9 T>G	1	147091250	147091250	T	G	BCL9	c.1289T>G	NM_004326.4	NP_004317.2:p.(Phe430Cys)	NC_000001.10:g.147091250T>G	VUS	1 lab	6657ed50a8
17:70117684 SOX9 A>T	17	70117684	70117684	A	T	SOX9	c.152A>T	NM_000346.4	NP_000337.1:p.(Asn51Ile)	NC_000017.10:g.70117684A>T	VUS	1 lab	6666377830
7:158738466 DYNC2I1 AGTAGCGGGTGTGGCTGAGAGGACCGCGTTTCTGTAAT>A	7	158738466	158738504	AGTAGCGGGTGTGGCTGAGAGGACCGCGTTTCTGTAAT	A	DYNC2I1	c.3199_*34del	NM_018051.5	NP_060521.4:p.(Ter1067ThrextTer3)	NC_000007.13:g.158738468_158738504del	VUS	1 lab	6658376a8c
15:89388865 ACAN G>A	15	89388865	89388865	G	A	ACAN	c.1181G>A	NM_001369268.1	NP_001356197.1:p.(Arg394Gln)	NC_000015.9:g.89388865G>A	(Likely) benign	1 lab	665a8aae4f
6:15517413 JARID2 G>A	6	15517413	15517413	G	A	JARID2	c.3472G>A	NM_004973.4	NP_004964.2:p.(Val1158Ile)	NC_000006.11:g.15517413G>A	VUS	1 lab	665b1d7a2c
15:74630315 CYP11A1 A>T	15	74630315	74630315	A	T	CYP11A1	c.1564T>A	NM_000781.3	NP_000772.2:p.(Ter522ArgextTer68)	NC_000015.9:g.74630315A>T	VUS	1 lab	665bc18e7d
6:107955549 SOBP A>T	6	107955549	107955549	A	T	SOBP	c.1501A>T	NM_018013.4	NP_060483.3:p.(Met501Leu)	NC_000006.11:g.107955549A>T	(Likely) benign	1 lab	665c13d852
3:58089790 FLNB G>T	3	58089790	58089790	G	T	FLNB	c.1588G>T	NM_001457.4	NP_001448.2:p.(Gly530Trp)	NC_000003.11:g.58089790G>T	VUS	1 lab	665c5c0760
8:120855024 DSCC1 A>G	8	120855024	120855024	A	G	DSCC1	c.761T>C	NM_024094.3	NP_076999.2:p.(Val254Ala)	NC_000008.10:g.120855024A>G	(Likely) benign	1 lab	665e066510
7:152112789 KMT2C A>C	7	152112789	152112789	A	C	KMT2C	c.161+19922T>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152112789A>C	(Likely) benign	1 lab	665e27a8b2
19:51165828 SHANK1 A>AG	19	51165828	51165832	A	AG	SHANK1	c.5879dup	NM_016148.5	NP_057232.2:p.(Thr1961TyrfsTer74)	NC_000019.9:g.51165832dup	VUS	1 lab	665fcd8be6
2:131414539 POTEJ C>T	2	131414539	131414539	C	T	POTEJ	c.2206C>T	NM_001277083.2	NP_001264012.1:p.(His736Tyr)	NC_000002.11:g.131414539C>T	VUS	1 lab	666054d19a
5:127674658 FBN2 C>T	5	127674658	127674658	C	T	FBN2	c.3439G>A	NM_001999.4	NP_001990.2:p.(Glu1147Lys)	NC_000005.9:g.127674658C>T	VUS	1 lab	666138a1b6
8:7718170 SPAG11A G>A	8	7718170	7718170	G	A	SPAG11A	c.217G>A	NM_001395484.1	NP_001382413.1:p.(Asp73Asn)	NC_000008.10:g.7718170G>A	(Likely) benign	1 lab	6661cb6b58
19:50098173 PRR12 C>T	19	50098173	50098173	C	T	PRR12	c.581C>T	NM_020719.3	NP_065770.1:p.(Ser194Leu)	NC_000019.9:g.50098173C>T	VUS	1 lab	6663a01c57
X:53438700 SMC1A C>G	X	53438700	53438700	C	G	SMC1A	c.1254+11G>C	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53438700C>G	(Likely) benign	1 lab	230cb137e7
X:53112146 TSPYL2 C>T	X	53112146	53112146	C	T	TSPYL2	c.466C>T	NM_022117.4	NP_071400.1:p.(Pro156Ser)	NC_000023.10:g.53112146C>T	(Likely) benign	1 lab	66654ad1bf
2:197085589 HECW2 C>G	2	197085589	197085589	C	G	HECW2	c.4223G>C	NM_020760.4	NP_065811.1:p.(Arg1408Thr)	NC_000002.11:g.197085589C>G	(Likely) benign	1 lab	21dda2e065
14:33291836 AKAP6 A>G	14	33291836	33291836	A	G	AKAP6	c.4817A>G	NM_004274.5	NP_004265.3:p.(Asn1606Ser)	NC_000014.8:g.33291836A>G	VUS	1 lab	66672addb8
19:39963551 SUPT5H TC>T	19	39963551	39963554	TC	T	SUPT5H	c.2140del	NM_001111020.3	NP_001104490.1:p.(Gln714ArgfsTer11)	NC_000019.9:g.39963554del	(Likely) pathogenic	1 lab	66674e57ea
5:131724618 SLC22A5 AG>A	5	131724618	131724619	AG	A	SLC22A5	c.958del	NM_003060.4	NP_003051.1:p.(Asp320ThrfsTer2)	NC_000005.9:g.131724619del	VUS	1 lab	6667b402a1
10:70229859 DNA2 G>A	10	70229859	70229859	G	A	DNA2	c.136C>T	NM_001080449.3	NP_001073918.2:p.(Arg46Trp)	NC_000010.10:g.70229859G>A	VUS	1 lab	666a33fda5
18:48421952 ME2 C>T	18	48421952	48421952	C	T	ME2	c.-12-227C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48421952C>T	(Likely) benign	1 lab	2313f34357
5:13868083 DNAH5 T>C	5	13868083	13868083	T	C	DNAH5	c.3853A>G	NM_001369.3	NP_001360.1:p.(Asn1285Asp)	NC_000005.9:g.13868083T>C	(Likely) benign	1 lab	666fee49fd
17:7492619 SOX15 T>C	17	7492619	7492619	T	C	SOX15	c.376A>G	NM_006942.2	NP_008873.1:p.(Ser126Gly)	NC_000017.10:g.7492619T>C	(Likely) benign	1 lab	6670ac7850
10:73767102 CHST3 C>G	10	73767102	73767102	C	G	CHST3	c.313C>G	NM_004273.5	NP_004264.2:p.(Pro105Ala)	NC_000010.10:g.73767102C>G	(Likely) benign	1 lab	667123d003
12:13768421 GRIN2B A>G	12	13768421	13768421	A	G	GRIN2B	c.1500+6T>C	NM_000834.5	NP_000825.2:p.?	NC_000012.11:g.13768421A>G	(Likely) benign	1 lab	6672f11252
15:91306293 BLM T>A	15	91306293	91306293	T	A	BLM	c.1980T>A	NM_000057.2	NP_000048.1:p.(His660Gln)	NC_000015.9:g.91306293T>A	VUS	1 lab	2314fbcd44
20:60908493 LAMA5 G>A	20	60908493	60908493	G	A	LAMA5	c.3066C>T	NM_005560.4	NP_005551.3:p.(Leu1022=)	NC_000020.10:g.60908493G>A	(Likely) benign	1 lab	2315f6299a
3:148925308 CP T>C	3	148925308	148925308	T	C	CP	c.878A>G	NM_000096.4	NP_000087.2:p.(Asp293Gly)	NC_000003.11:g.148925308T>C	VUS	1 lab	21e40dfd27
21:43248633 PRDM15 G>A	21	43248633	43248633	G	A	PRDM15	c.1423C>T	NM_001040424.3	NP_001035514.2:p.(Leu475Phe)	NC_000021.8:g.43248633G>A	VUS	1 lab	66741f5e51
2:148716374 ORC4 T>C	2	148716374	148716374	T	C	ORC4	c.287A>G	NM_181741.4	NP_859525.1:p.(Gln96Arg)	NC_000002.11:g.148716374T>C	(Likely) benign	1 lab	6674443ed3
19:36212581 KMT2B G>T	19	36212581	36212581	G	T	KMT2B	c.2332G>T	NM_014727.3	NP_055542.1:p.(Ala778Ser)	NC_000019.9:g.36212581G>T	VUS	1 lab	6675f59519
X:140994168 MAGEC1 TCA>T	X	140994168	140994172	TCA	T	MAGEC1	c.981_982del	NM_005462.5	NP_005453.2:p.(His327GlnfsTer4)	NC_000023.10:g.140994171_140994172del	VUS	1 lab	6676115050
12:83290201 TMTC2 C>T	12	83290201	83290201	C	T	TMTC2	c.1259C>T	NM_152588.3	NP_689801.1:p.(Ala420Val)	NC_000012.11:g.83290201C>T	VUS	1 lab	6677753f9d
11:2906858 CDKN1C G>A	11	2906858	2906858	G	A	CDKN1C	c.-11+6C>T	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2906858G>A	VUS	1 lab	667775dd5b
1:147095727 BCL9 C>A	1	147095727	147095727	C	A	BCL9	c.3248C>A	NM_004326.4	NP_004317.2:p.(Thr1083Asn)	NC_000001.10:g.147095727C>A	(Likely) benign	1 lab	6679d5783c
8:6377403 ANGPT2 A>T	8	6377403	6377403	A	T	ANGPT2	c.909T>A	NM_001118887.2	NP_001112359.1:p.(Asn303Lys)	NC_000008.10:g.6377403A>T	(Likely) benign	1 lab	667a81747a
2:85778193 GGCX C>T	2	85778193	85778193	C	T	GGCX	c.1743G>A	NM_000821.7	NP_000812.2:p.(Leu581=)	NC_000002.11:g.85778193C>T	(Likely) benign	1 lab	23180ff807
7:3658736 SDK1 C>T	7	3658736	3658736	C	T	SDK1	c.323C>T	NM_152744.4	NP_689957.3:p.(Thr108Met)	NC_000007.13:g.3658736C>T	VUS	1 lab	667c4ee754
X:72783276 CHIC1 G>GGAAGAGGAGGAGGAGGAA	X	72783276	72783314	G	GGAAGAGGAGGAGGAGGAA	CHIC1	c.177_194dup	NM_001039840.4	NP_001034929.2:p.(Glu63_Glu68dup)	NC_000023.10:g.72783297_72783314dup	VUS	1 lab	66809d897e
16:30733599 SRCAP C>T	16	30733599	30733599	C	T	SRCAP	c.3698C>T	NM_006662.3	NP_006653.2:p.(Pro1233Leu)	NC_000016.9:g.30733599C>T	VUS	1 lab	66833adeb0
16:29394943 NPIPB11 C>T	16	29394943	29394943	C	T	NPIPB11	c.1310G>A	NM_001310137.5	NP_001297066.2:p.(Arg437His)	NC_000016.9:g.29394943C>T	VUS	1 lab	668399d252
11:8662039 TRIM66 G>A	11	8662039	8662039	G	A	TRIM66	c.1883C>T	NM_001388022.1	NP_001374951.1:p.(Pro628Leu)	NC_000011.9:g.8662039G>A	VUS	1 lab	6684233d23
7:42004622 GLI3 G>A	7	42004622	42004622	G	A	GLI3	c.4049C>T	NM_000168.6	NP_000159.3:p.(Ala1350Val)	NC_000007.13:g.42004622G>A	(Likely) benign	1 lab	6684271a8e
9:136594898 SARDH C>T	9	136594898	136594898	C	T	SARDH	c.904G>A	NM_001134707.2	NP_001128179.1:p.(Glu302Lys)	NC_000009.11:g.136594898C>T	VUS	1 lab	6684eb7bd0
3:58134556 FLNB T>C	3	58134556	58134556	T	C	FLNB	c.6068T>C	NM_001457.4	NP_001448.2:p.(Phe2023Ser)	NC_000003.11:g.58134556T>C	(Likely) pathogenic	1 lab	66869efd78
1:183099544 LAMC1 C>T	1	183099544	183099544	C	T	LAMC1	c.3346C>T	NM_002293.4	NP_002284.3:p.(Arg1116Cys)	NC_000001.10:g.183099544C>T	VUS	1 lab	6686b7f566
14:53529898 DDHD1 A>G	14	53529898	53529898	A	G	DDHD1	c.1529T>C	NM_001160148.2	NP_001153620.1:p.(Leu510Pro)	NC_000014.8:g.53529898A>G	VUS	1 lab	66890421f6
7:100780683 SERPINE1 C>A	7	100780683	100780683	C	A	SERPINE1	c.1172-3C>A	NM_000602.5	NP_000593.1:p.?	NC_000007.13:g.100780683C>A	VUS	1 lab	21e6628270
10:104493328 SFXN2 C>T	10	104493328	104493328	C	T	SFXN2	c.789C>T	NM_178858.6	NP_849189.1:p.(His263=)	NC_000010.10:g.104493328C>T	(Likely) benign	1 lab	6689e816a2
17:4449142 MYBBP1A G>A	17	4449142	4449142	G	A	MYBBP1A	c.1920C>T	NM_014520.4	NP_055335.2:p.(Ile640=)	NC_000017.10:g.4449142G>A	(Likely) benign	1 lab	6689ff1686
12:56568438 SMARCC2 A>G	12	56568438	56568438	A	G	SMARCC2	c.1493T>C	NM_001330288.2	NP_001317217.1:p.(Met498Thr)	NC_000012.11:g.56568438A>G	(Likely) benign	1 lab	668b52fb2b
6:117113497 GPRC6A G>A	6	117113497	117113497	G	A	GPRC6A	c.2589C>T	NM_148963.4	NP_683766.2:p.(Ser863=)	NC_000006.11:g.117113497G>A	(Likely) benign	1 lab	668ca773ed
22:19504141 CDC45 C>T	22	19504141	19504141	C	T	CDC45	c.1532C>T	NM_003504.5	NP_003495.1:p.(Pro511Leu)	NC_000022.10:g.19504141C>T	VUS	1 lab	668cbd624e
X:77245178 ATP7A A>T	X	77245178	77245178	A	T	ATP7A	c.1060A>T	NM_000052.7	NP_000043.4:p.(Thr354Ser)	NC_000023.10:g.77245178A>T	VUS	1 lab	668e17b0ea
12:113612849 DDX54 G>A	12	113612849	113612849	G	A	DDX54	c.866C>T	NM_024072.4	NP_076977.3:p.(Ala289Val)	NC_000012.11:g.113612849G>A	VUS	1 lab	668e657a38
6:166572065 TBXT C>T	6	166572065	166572065	C	T	TBXT	c.1049G>A	NM_001366285.2	NP_001353214.1:p.(Ser350Asn)	NC_000006.11:g.166572065C>T	(Likely) benign	1 lab	668fb1ce36
X:153633161 DNASE1L1 G>C	X	153633161	153633161	G	C	DNASE1L1	c.311+8C>G	NM_001303620.2	NP_001290549.1:p.?	NC_000023.10:g.153633161G>C	VUS	1 lab	6690b31dc8
13:20763698 GJB2 G>A	13	20763698	20763698	G	A	GJB2	c.23C>T	NM_004004.6	NP_003995.2:p.(Thr8Met)	NC_000013.10:g.20763698G>A	VUS	1 lab	669212e041
10:70227921 DNA2 T>C	10	70227921	70227921	T	C	DNA2	c.400A>G	NM_001080449.3	NP_001073918.2:p.(Ile134Val)	NC_000010.10:g.70227921T>C	VUS	1 lab	66926a116b
18:19780723 GATA6 C>T	18	19780723	19780723	C	T	GATA6	c.1725C>T	NM_005257.6	NP_005248.2:p.(Ala575=)	NC_000018.9:g.19780723C>T	(Likely) benign	1 lab	66933cd838
13:92346139 GPC5 A>G	13	92346139	92346139	A	G	GPC5	c.1020+4A>G	NM_004466.6	NP_004457.1:p.?	NC_000013.10:g.92346139A>G	(Likely) benign	1 lab	669350596e
10:102541068 PAX2 A>G	10	102541068	102541068	A	G	PAX2	c.562A>G	NM_000278.5	NP_000269.3:p.(Asn188Asp)	NC_000010.10:g.102541068A>G	VUS	1 lab	66957f72b3
20:44047484 PIGT C>G	20	44047484	44047484	C	G	PIGT	c.366-8C>G	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44047484C>G	VUS	1 lab	6696bf7ad1
16:67006805 CES3 G>A	16	67006805	67006805	G	A	CES3	c.1569G>A	NM_024922.6	NP_079198.2:p.(Ala523=)	NC_000016.9:g.67006805G>A	(Likely) benign	1 lab	66973d2e12
2:69330018 ANTXR1 C>T	2	69330018	69330018	C	T	ANTXR1	c.748C>T	NM_032208.3	NP_115584.1:p.(Arg250Cys)	NC_000002.11:g.69330018C>T	VUS	1 lab	21eab7ef8e
6:50810851 TFAP2B C>G	6	50810851	50810851	C	G	TFAP2B	c.1129C>G	NM_003221.4	NP_003212.2:p.(Pro377Ala)	NC_000006.11:g.50810851C>G	VUS	1 lab	6698eb7b3b
11:66617690 PC C>A	11	66617690	66617690	C	A	PC	c.2718+1G>T	NM_001040716.2	NP_001035806.1:p.?	NC_000011.9:g.66617690C>A	VUS	1 lab	66993d43c2
2:171070907 MYO3B G>T	2	171070907	171070907	G	T	MYO3B	c.340G>T	NM_138995.5	NP_620482.3:p.(Val114Phe)	NC_000002.11:g.171070907G>T	VUS	1 lab	669b01637a
7:21640333 DNAH11 C>G	7	21640333	21640333	C	G	DNAH11	c.3040C>G	NM_001277115.2	NP_001264044.1:p.(Gln1014Glu)	NC_000007.13:g.21640333C>G	VUS	1 lab	669bcaa5a9
15:33955010 RYR3 C>T	15	33955010	33955010	C	T	RYR3	c.5279C>T	NM_001036.6	NP_001027.3:p.(Ala1760Val)	NC_000015.9:g.33955010C>T	(Likely) benign	1 lab	669ec3a8f0
10:127462891 MMP21 C>T	10	127462891	127462891	C	T	MMP21	c.206G>A	NM_147191.1	NP_671724.1:p.(Trp69Ter)	NC_000010.10:g.127462891C>T	(Likely) pathogenic	1 lab	669ee91992
15:75648559 MAN2C1 G>A	15	75648559	75648559	G	A	MAN2C1	c.2888C>T	NM_006715.4	NP_006706.2:p.(Ala963Val)	NC_000015.9:g.75648559G>A	VUS	1 lab	669ef97684
8:104337712 FZD6 C>T	8	104337712	104337712	C	T	FZD6	c.1378C>T	NM_003506.4	NP_003497.2:p.(Pro460Ser)	NC_000008.10:g.104337712C>T	VUS	1 lab	669f60fb7c
18:10471657 APCDD1 C>T	18	10471657	10471657	C	T	APCDD1	c.373C>T	NM_153000.5	NP_694545.1:p.(Arg125Trp)	NC_000018.9:g.10471657C>T	VUS	1 lab	669fec149f
2:198267558 SF3B1 G>A	2	198267558	198267558	G	A	SF3B1	c.1807-8C>T	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198267558G>A	(Likely) benign	1 lab	66a02b2438
3:48619008 COL7A1 G>A	3	48619008	48619008	G	A	COL7A1	c.4780C>T	NM_000094.4	NP_000085.1:p.(Arg1594Trp)	NC_000003.11:g.48619008G>A	VUS	1 lab	66a03bcf47
12:6762512 ING4 G>C	12	6762512	6762512	G	C	ING4	c.160C>G	NM_016162.4	NP_057246.2:p.(Arg54Gly)	NC_000012.11:g.6762512G>C	VUS	1 lab	66a09268ff
9:98211449 PTCH1 C>T	9	98211449	98211449	C	T	PTCH1	c.3706G>A	NM_000264.5	NP_000255.2:p.(Glu1236Lys)	NC_000009.11:g.98211449C>T	VUS	1 lab	66a13ce533
2:36623837 CRIM1 G>A	2	36623837	36623837	G	A	CRIM1	c.412G>A	NM_016441.3	NP_057525.1:p.(Gly138Arg)	NC_000002.11:g.36623837G>A	VUS	1 lab	66a23e4780
X:83616578 HDX G>A	X	83616578	83616578	G	A	HDX	c.1348C>T	NM_001177479.2	NP_001170950.1:p.(Leu450Phe)	NC_000023.10:g.83616578G>A	VUS	1 lab	66a244d161
X:67943559 STARD8 G>A	X	67943559	67943559	G	A	STARD8	c.2891G>A	NM_001142503.3	NP_001135975.1:p.(Arg964Gln)	NC_000023.10:g.67943559G>A	VUS	1 lab	66a2dbd97b
13:97485438 HS6ST3 G>C	13	97485438	97485438	G	C	HS6ST3	c.1402G>C	NM_153456.4	NP_703157.2:p.(Val468Leu)	NC_000013.10:g.97485438G>C	VUS	1 lab	66a33814a4
18:12329706 AFG3L2 G>A	18	12329706	12329706	G	A	AFG3L2	c.2252C>T	NM_006796.3	NP_006787.2:p.(Ala751Val)	NC_000018.9:g.12329706G>A	(Likely) benign	1 lab	66a3fdcb47
4:146576515 MMAA G>T	4	146576515	146576515	G	T	MMAA	c.1186G>T	NM_172250.3	NP_758454.1:p.(Val396Phe)	NC_000004.11:g.146576515G>T	VUS	1 lab	66a50ddb98
4:1953848 NSD2 C>T	4	1953848	1953848	C	T	NSD2	c.2027C>T	NM_001042424.3	NP_001035889.1:p.(Pro676Leu)	NC_000004.11:g.1953848C>T	VUS	1 lab	66a6689409
3:125032259 ZNF148 A>G	3	125032259	125032259	A	G	ZNF148	c.226T>C	NM_021964.3	NP_068799.2:p.(Ser76Pro)	NC_000003.11:g.125032259A>G	VUS	1 lab	66a808a2a2
11:69951871 ANO1 G>A	11	69951871	69951871	G	A	ANO1	c.724G>A	NM_018043.7	NP_060513.5:p.(Asp242Asn)	NC_000011.9:g.69951871G>A	(Likely) benign	1 lab	66a850d2f3
11:71183521 NADSYN1 G>A	11	71183521	71183521	G	A	NADSYN1	c.434G>A	NM_018161.5	NP_060631.2:p.(Arg145Gln)	NC_000011.9:g.71183521G>A	VUS	1 lab	66acf8ab94
17:16097787 NCOR1 G>A	17	16097787	16097787	G	A	NCOR1	c.97C>T	NM_006311.4	NP_006302.2:p.(Arg33Cys)	NC_000017.10:g.16097787G>A	VUS	1 lab	66aebae4f1
2:121746834 GLI2 C>T	2	121746834	121746834	C	T	GLI2	c.3293C>T	NM_001374353.1	NP_001361282.1:p.(Ser1098Phe)	NC_000002.11:g.121746834C>T	(Likely) benign	1 lab	66aeeecb46
20:61943878 COL20A1 C>T	20	61943878	61943878	C	T	COL20A1	c.1910C>T	NM_020882.4	NP_065933.2:p.(Thr637Met)	NC_000020.10:g.61943878C>T	(Likely) benign	1 lab	66af2c1a88
12:112919996 PTPN11 C>T	12	112919996	112919996	C	T	PTPN11	c.1211C>T	NM_002834.5	NP_002825.3:p.(Ser404Leu)	NC_000012.11:g.112919996C>T	VUS	1 lab	66b0299862
9:336582 DOCK8 G>A	9	336582	336582	G	A	DOCK8	c.1286G>A	NM_203447.3	NP_982272.2:p.(Gly429Glu)	NC_000009.11:g.336582G>A	(Likely) benign	1 lab	231e051a78
21:47766697 PCNT T>G	21	47766697	47766697	T	G	PCNT	c.761T>G	NM_006031.6	NP_006022.3:p.(Leu254Arg)	NC_000021.8:g.47766697T>G	VUS	1 lab	66b18a7f80
21:47681332 MCM3AP G>A	21	47681332	47681332	G	A	MCM3AP	c.3336-7C>T	NM_003906.5	NP_003897.2:p.?	NC_000021.8:g.47681332G>A	(Likely) benign	1 lab	66b1aaec8e
3:53906434 ACTR8 C>A	3	53906434	53906434	C	A	ACTR8	c.1279G>T	NM_022899.5	NP_075050.3:p.(Ala427Ser)	NC_000003.11:g.53906434C>A	(Likely) benign	1 lab	66b20dd0fe
2:109367977 RANBP2 A>G	2	109367977	109367977	A	G	RANBP2	c.1456-7A>G	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109367977A>G	(Likely) benign	1 lab	231fae1a59
19:17316802 MYO9B G>A	19	17316802	17316802	G	A	MYO9B	c.5098G>A	NM_004145.4	NP_004136.2:p.(Val1700Met)	NC_000019.9:g.17316802G>A	VUS	1 lab	66b2f8c534
10:105794365 COL17A1 G>T	10	105794365	105794365	G	T	COL17A1	c.3766+14C>A	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105794365G>T	(Likely) benign	1 lab	21ecb9de84
13:110857767 COL4A1 G>C	13	110857767	110857767	G	C	COL4A1	c.904-14C>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110857767G>C	(Likely) benign	1 lab	66b4a35b35
21:42839661 TMPRSS2 C>T	21	42839661	42839661	C	T	TMPRSS2	c.1467G>A	NM_005656.4	NP_005647.3:p.(Arg489=)	NC_000021.8:g.42839661C>T	VUS	1 lab	66b682d795
X:65408204 HEPH C>T	X	65408204	65408204	C	T	HEPH	c.629C>T	NM_001367233.3	NP_001354162.2:p.(Ala210Val)	NC_000023.10:g.65408204C>T	(Likely) benign	1 lab	66b6a043c0
22:37485647 TMPRSS6 G>GGCC	22	37485647	37485650	G	GGCC	TMPRSS6	c.804_806dup	NM_001374504.1	NP_001361433.1:p.(Ala269dup)	NC_000022.10:g.37485648_37485650dup	VUS	1 lab	66b6cba9e8
4:119738575 SEC24D A>G	4	119738575	119738575	A	G	SEC24D	c.249-8T>C	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119738575A>G	(Likely) benign	1 lab	66b7edfa4f
1:20980798 DDOST C>T	1	20980798	20980798	C	T	DDOST	c.712G>A	NM_005216.5	NP_005207.3:p.(Val238Ile)	NC_000001.10:g.20980798C>T	VUS	1 lab	66b964755f
5:61657365 KIF2A C>T	5	61657365	61657365	C	T	KIF2A	c.1027+9C>T	NM_001098511.3	NP_001091981.1:p.?	NC_000005.9:g.61657365C>T	(Likely) benign	1 lab	66bb0baf30
16:2155469 PKD1 G>A	16	2155469	2155469	G	A	PKD1	c.7870C>T	NM_001009944.3	NP_001009944.3:p.(Arg2624Trp)	NC_000016.9:g.2155469G>A	VUS	1 lab	66c00fd615
18:50936927 DCC T>C	18	50936927	50936927	T	C	DCC	c.3041T>C	NM_005215.4	NP_005206.2:p.(Leu1014Pro)	NC_000018.9:g.50936927T>C	(Likely) benign	1 lab	66c07beb6c
4:147795956 TTC29 G>C	4	147795956	147795956	G	C	TTC29	c.711C>G	NM_031956.4	NP_114162.2:p.(Tyr237Ter)	NC_000004.11:g.147795956G>C	VUS	1 lab	66c11ed5a5
2:27447974 CAD G>C	2	27447974	27447974	G	C	CAD	c.1483G>C	NM_004341.5	NP_004332.2:p.(Ala495Pro)	NC_000002.11:g.27447974G>C	VUS	1 lab	66c2008ee9
15:75981439 CSPG4 A>G	15	75981439	75981439	A	G	CSPG4	c.1967T>C	NM_001897.5	NP_001888.2:p.(Val656Ala)	NC_000015.9:g.75981439A>G	VUS	1 lab	66c23c9ac2
15:90220708 PLIN1 T>C	15	90220708	90220708	T	C	PLIN1	c.13A>G	NM_002666.5	NP_002657.3:p.(Lys5Glu)	NC_000015.9:g.90220708T>C	(Likely) benign	1 lab	66c48ddb80
2:61576404 USP34 T>G	2	61576404	61576404	T	G	USP34	c.1524A>C	NM_014709.4	NP_055524.3:p.(Arg508Ser)	NC_000002.11:g.61576404T>G	(Likely) benign	1 lab	66c6b98646
7:104741987 KMT2E A>C	7	104741987	104741987	A	C	KMT2E	c.1838A>C	NM_182931.3	NP_891847.1:p.(Lys613Thr)	NC_000007.13:g.104741987A>C	VUS	1 lab	66c6e9811f
20:57477979 GNAS C>T	20	57477979	57477979	C	T	GNAS	c.258-607C>T	NM_000516.7	NP_000507.1:p.?	NC_000020.10:g.57477979C>T	(Likely) benign	1 lab	66c91ee2fa
14:64746728 ESR2 C>T	14	64746728	64746728	C	T	ESR2	c.506G>A	NM_001437.3	NP_001428.1:p.(Cys169Tyr)	NC_000014.8:g.64746728C>T	VUS	1 lab	66c9b9fcc0
16:2141013 PKD1 C>T	16	2141013	2141013	C	T	PKD1	c.11875G>A	NM_001009944.3	NP_001009944.3:p.(Ala3959Thr)	NC_000016.9:g.2141013C>T	VUS	1 lab	66ca25a353
19:18893732 COMP T>C	19	18893732	18893732	T	C	COMP	c.2267A>G	NM_000095.3	NP_000086.2:p.(Gln756Arg)	NC_000019.9:g.18893732T>C	(Likely) benign	1 lab	66cb39cb3c
9:36249368 GNE T>A	9	36249368	36249368	T	A	GNE	c.-16A>T	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36249368T>A	VUS	1 lab	66cbaa6141
9:124072992 GSN G>A	9	124072992	124072992	G	A	GSN	c.382G>A	NM_198252.3	NP_937895.1:p.(Val128Met)	NC_000009.11:g.124072992G>A	(Likely) benign	1 lab	66d0abdaee
15:33381026 FMN1 T>C	15	33381026	33381026	T	C	FMN1	c.2017A>G	NM_001277313.2	NP_001264242.1:p.(Arg673Gly)	NC_000015.9:g.33381026T>C	VUS	1 lab	66d15ca296
1:150249004 C1orf54 G>A	1	150249004	150249004	G	A	C1orf54	c.264G>A	NM_024579.4	NP_078855.2:p.(Pro88=)	NC_000001.10:g.150249004G>A	(Likely) benign	1 lab	66d1e4f55c
19:1226471 STK11 A>C	19	1226471	1226471	A	C	STK11	c.1127A>C	NM_000455.5	NP_000446.1:p.(Glu376Ala)	NC_000019.9:g.1226471A>C	VUS	1 lab	21f1d0edcb
2:228159682 COL4A3 C>T	2	228159682	228159682	C	T	COL4A3	c.3421C>T	NM_000091.5	NP_000082.2:p.(Leu1141Phe)	NC_000002.11:g.228159682C>T	(Likely) benign	1 lab	66d5bd6b97
2:20212331 MATN3 A>C	2	20212331	20212331	A	C	MATN3	c.62T>G	NM_002381.5	NP_002372.1:p.(Leu21Arg)	NC_000002.11:g.20212331A>C	(Likely) benign	1 lab	66d6fd5981
15:85383814 ALPK3 A>G	15	85383814	85383814	A	G	ALPK3	c.1304A>G	NM_020778.5	NP_065829.4:p.(Gln435Arg)	NC_000015.9:g.85383814A>G	(Likely) benign	1 lab	21f2a2dbf9
4:73956852 ANKRD17 C>T	4	73956852	73956852	C	T	ANKRD17	c.6493G>A	NM_032217.5	NP_115593.3:p.(Gly2165Arg)	NC_000004.11:g.73956852C>T	VUS	1 lab	66d8d20468
16:72991457 ZFHX3 T>C	16	72991457	72991457	T	C	ZFHX3	c.2588A>G	NM_006885.4	NP_008816.3:p.(Gln863Arg)	NC_000016.9:g.72991457T>C	VUS	1 lab	66da520076
8:126056801 WASHC5 A>C	8	126056801	126056801	A	C	WASHC5	c.2644T>G	NM_014846.4	NP_055661.3:p.(Phe882Val)	NC_000008.10:g.126056801A>C	(Likely) benign	1 lab	66dd3350fd
7:75692857 MDH2 G>A	7	75692857	75692857	G	A	MDH2	c.580G>A	NM_005918.4	NP_005909.2:p.(Val194Ile)	NC_000007.13:g.75692857G>A	(Likely) benign	1 lab	66ddf0886f
10:123274680 FGFR2 G>A	10	123274680	123274680	G	A	FGFR2	c.1238C>T	NM_000141.5	NP_000132.3:p.(Pro413Leu)	NC_000010.10:g.123274680G>A	VUS	1 lab	66df469cbe
3:111297908 CD96 A>C	3	111297908	111297908	A	C	CD96	c.578A>C	NM_005816.5	NP_005807.1:p.(Gln193Pro)	NC_000003.11:g.111297908A>C	(Likely) benign	1 lab	66e11c8985
20:43246938 PKIG A>C	20	43246938	43246938	A	C	PKIG	c.164A>C	NM_001281445.2	NP_001268374.1:p.(Glu55Ala)	NC_000020.10:g.43246938A>C	(Likely) benign	1 lab	66e19c8c8e
1:10166467 UBE4B C>T	1	10166467	10166467	C	T	UBE4B	c.1022C>T	NM_001105562.3	NP_001099032.1:p.(Ser341Phe)	NC_000001.10:g.10166467C>T	(Likely) benign	1 lab	66e3185687
3:64133216 PRICKLE2 T>C	3	64133216	64133216	T	C	PRICKLE2	c.950A>G	NM_198859.4	NP_942559.1:p.(Asn317Ser)	NC_000003.11:g.64133216T>C	(Likely) benign	1 lab	233011ffd5
12:49374353 WNT1 G>T	12	49374353	49374353	G	T	WNT1	c.505G>T	NM_005430.4	NP_005421.1:p.(Gly169Cys)	NC_000012.11:g.49374353G>T	VUS	1 lab	66e3ee712e
10:61955965 ANK3 C>T	10	61955965	61955965	C	T	ANK3	c.1825G>A	NM_020987.5	NP_066267.2:p.(Asp609Asn)	NC_000010.10:g.61955965C>T	(Likely) benign	1 lab	67040bb1bd
8:141310597 TRAPPC9 T>C	8	141310597	141310597	T	C	TRAPPC9	c.1739A>G	NM_001160372.4	NP_001153844.1:p.(Asn580Ser)	NC_000008.10:g.141310597T>C	(Likely) benign	1 lab	66e4138831
3:9486888 SETD5 G>C	3	9486888	9486888	G	C	SETD5	c.1344G>C	NM_001080517.3	NP_001073986.1:p.(Glu448Asp)	NC_000003.11:g.9486888G>C	VUS	1 lab	66e87e152f
6:31545093 TNF G>A	6	31545093	31545093	G	A	TNF	c.481G>A	NM_000594.4	NP_000585.2:p.(Val161Ile)	NC_000006.11:g.31545093G>A	(Likely) benign	1 lab	66e8f0ee31
15:99251205 IGF1R T>C	15	99251205	99251205	T	C	IGF1R	c.509T>C	NM_000875.5	NP_000866.1:p.(Val170Ala)	NC_000015.9:g.99251205T>C	(Likely) benign	1 lab	66e997dc9b
3:127774577 SEC61A1 T>C	3	127774577	127774577	T	C	SEC61A1	c.203T>C	NM_013336.4	NP_037468.1:p.(Ile68Thr)	NC_000003.11:g.127774577T>C	VUS	1 lab	66ea4926a7
3:48602362 COL7A1 C>T	3	48602362	48602362	C	T	COL7A1	c.8672G>A	NM_000094.4	NP_000085.1:p.(Arg2891His)	NC_000003.11:g.48602362C>T	VUS	1 lab	66ebefe01c
19:46269745 SIX5 A>C	19	46269745	46269745	A	C	SIX5	c.1472T>G	NM_175875.5	NP_787071.3:p.(Val491Gly)	NC_000019.9:g.46269745A>C	VUS	1 lab	66ec09c06f
20:50400808 SALL4 C>T	20	50400808	50400808	C	T	SALL4	c.3158G>A	NM_020436.5	NP_065169.1:p.(Ser1053Asn)	NC_000020.10:g.50400808C>T	VUS	1 lab	66f6c7a46e
6:157495235 ARID1B C>T	6	157495235	157495235	C	T	ARID1B	c.3329C>T	NM_001374828.1	NP_001361757.1:p.(Pro1110Leu)	NC_000006.11:g.157495235C>T	(Likely) benign	1 lab	66edbd05bd
3:101371325 ZBTB11 ATAAAG>A	3	101371325	101371332	ATAAAG	A	ZBTB11	c.2644+10_2644+14del	NM_014415.4	NP_055230.2:p.?	NC_000003.11:g.101371328_101371332del	VUS	1 lab	66ee2f5623
2:55882077 PNPT1 T>C	2	55882077	55882077	T	C	PNPT1	c.1453A>G	NM_033109.5	NP_149100.2:p.(Met485Val)	NC_000002.11:g.55882077T>C	(Likely) pathogenic	1 lab	66eec2838b
1:151400664 POGZ G>C	1	151400664	151400664	G	C	POGZ	c.794C>G	NM_015100.4	NP_055915.2:p.(Thr265Ser)	NC_000001.10:g.151400664G>C	VUS	1 lab	66ef1496fd
12:121426785 HNF1A G>A	12	121426785	121426785	G	A	HNF1A	c.476G>A	NM_000545.8	NP_000536.6:p.(Arg159Gln)	NC_000012.11:g.121426785G>A	(Likely) pathogenic	1 lab	66f09c09f4
8:74005105 SBSPON G>C	8	74005105	74005105	G	C	SBSPON	c.198C>G	NM_153225.4	NP_694957.3:p.(Tyr66Ter)	NC_000008.10:g.74005105G>C	VUS	1 lab	66f0d94db9
7:92760892 SAMD9L G>A	7	92760892	92760892	G	A	SAMD9L	c.4393C>T	NM_152703.5	NP_689916.2:p.(Arg1465Cys)	NC_000007.13:g.92760892G>A	(Likely) benign	1 lab	66f2503a15
1:224377912 DEGS1 G>T	1	224377912	224377912	G	T	DEGS1	c.716G>T	NM_003676.4	NP_003667.1:p.(Gly239Val)	NC_000001.10:g.224377912G>T	VUS	1 lab	66f404c5a8
6:157522455 ARID1B C>T	6	157522455	157522455	C	T	ARID1B	c.5096C>T	NM_001374828.1	NP_001361757.1:p.(Pro1699Leu)	NC_000006.11:g.157522455C>T	(Likely) benign	1 lab	66f46d1dfe
16:2290104 ECI1 G>A	16	2290104	2290104	G	A	ECI1	c.785C>T	NM_001919.4	NP_001910.2:p.(Thr262Met)	NC_000016.9:g.2290104G>A	VUS	1 lab	66f52174a2
1:168054854 GPR161 C>T	1	168054854	168054854	C	T	GPR161	c.1505G>A	NM_001375883.1	NP_001362812.1:p.(Arg502His)	NC_000001.10:g.168054854C>T	(Likely) benign	1 lab	66f58fdb12
11:108165757 ATM A>T	11	108165757	108165757	A	T	ATM	c.4880A>T	NM_000051.4	NP_000042.3:p.(Gln1627Leu)	NC_000011.9:g.108165757A>T	VUS	1 lab	66f66f2e45
11:67379033 NDUFV1 A>G	11	67379033	67379033	A	G	NDUFV1	c.1073A>G	NM_007103.4	NP_009034.2:p.(Asp358Gly)	NC_000011.9:g.67379033A>G	VUS	1 lab	66f6e88248
7:618916 PRKAR1B C>T	7	618916	618916	C	T	PRKAR1B	c.868G>A	NM_001164760.2	NP_001158232.1:p.(Asp290Asn)	NC_000007.13:g.618916C>T	VUS	1 lab	66f7250d7e
12:121880378 KDM2B G>A	12	121880378	121880378	G	A	KDM2B	c.2866C>T	NM_032590.5	NP_115979.3:p.(His956Tyr)	NC_000012.11:g.121880378G>A	(Likely) benign	1 lab	66f9cb8dac
17:37840878 PGAP3 A>G	17	37840878	37840878	A	G	PGAP3	c.404T>C	NM_033419.5	NP_219487.3:p.(Met135Thr)	NC_000017.10:g.37840878A>G	(Likely) benign	1 lab	66fa064968
12:102224342 GNPTAB C>G	12	102224342	102224342	C	G	GNPTAB	c.112G>C	NM_024312.5	NP_077288.2:p.(Gly38Arg)	NC_000012.11:g.102224342C>G	VUS	1 lab	66fb932636
10:70225550 DNA2 C>T	10	70225550	70225550	C	T	DNA2	c.461G>A	NM_001080449.3	NP_001073918.2:p.(Arg154His)	NC_000010.10:g.70225550C>T	(Likely) benign	1 lab	66fee695c0
16:86546557 FOXF1 C>A	16	86546557	86546557	C	A	FOXF1	c.1006C>A	NM_001451.3	NP_001442.2:p.(Pro336Thr)	NC_000016.9:g.86546557C>A	VUS	1 lab	6700289b41
2:47739533 KCNK12 G>A	2	47739533	47739533	G	A	KCNK12	c.*8513C>T	NM_022055.2	NP_071338.1:p.?	NC_000002.11:g.47739533G>A	(Likely) benign	1 lab	67008b99f5
11:66473286 SPTBN2 A>G	11	66473286	66473286	A	G	SPTBN2	c.1676T>C	NM_006946.4	NP_008877.2:p.(Leu559Pro)	NC_000011.9:g.66473286A>G	VUS	1 lab	67027aafa8
14:51214763 NIN T>C	14	51214763	51214763	T	C	NIN	c.5011A>G	NM_020921.4	NP_065972.4:p.(Ile1671Val)	NC_000014.8:g.51214763T>C	(Likely) benign	1 lab	6702a84307
2:179611556 TTN T>C	2	179611556	179611556	T	C	TTN	c.11312-4908A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611556T>C	(Likely) benign	1 lab	67053425c8
12:121431344 HNF1A GAGGGC>G	12	121431344	121431349	GAGGGC	G	HNF1A	c.549_553del	NM_000545.8	NP_000536.6:p.(Gly184AspfsTer2)	NC_000012.11:g.121431345_121431349del	(Likely) pathogenic	1 lab	67080096ec
21:45738398 PFKL A>G	21	45738398	45738398	A	G	PFKL	c.982A>G	NM_002626.6	NP_002617.3:p.(Thr328Ala)	NC_000021.8:g.45738398A>G	(Likely) benign	1 lab	67089f2b68
17:56435545 RNF43 C>T	17	56435545	56435545	C	T	RNF43	c.1592G>A	NM_017763.6	NP_060233.3:p.(Arg531His)	NC_000017.10:g.56435545C>T	(Likely) benign	1 lab	670a9bea4a
20:43047140 HNF4A G>A	20	43047140	43047140	G	A	HNF4A	c.724G>A	NM_000457.5	NP_000448.3:p.(Val242Met)	NC_000020.10:g.43047140G>A	(Likely) pathogenic	1 lab	670b395872
5:59064299 PDE4D G>A	5	59064299	59064299	G	A	PDE4D	c.455+124696C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.59064299G>A	VUS	1 lab	670c88fc5c
10:101578644 ABCC2 C>T	10	101578644	101578644	C	T	ABCC2	c.2369C>T	NM_000392.5	NP_000383.2:p.(Ala790Val)	NC_000010.10:g.101578644C>T	VUS	1 lab	670d965b13
15:48762956 FBN1 T>TG	15	48762956	48762962	T	TG	FBN1	c.4337-4dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48762962dup	(Likely) benign	1 lab	670e60ee0d
7:130042648 CEP41 T>C	7	130042648	130042648	T	C	CEP41	c.423-8A>G	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130042648T>C	VUS	1 lab	670e696792
20:62178594 SRMS C>T	20	62178594	62178594	C	T	SRMS	c.223G>A	NM_080823.4	NP_543013.1:p.(Gly75Arg)	NC_000020.10:g.62178594C>T	VUS	1 lab	670fd51a7e
18:33736537 ELP2 C>T	18	33736537	33736537	C	T	ELP2	c.1384C>T	NM_018255.4	NP_060725.1:p.(Arg462Trp)	NC_000018.9:g.33736537C>T	(Likely) pathogenic	1 lab	6711af89f8
6:29643160 ZFP57 T>C	6	29643160	29643160	T	C	ZFP57	c.352+3A>G	NM_001109809.5	NP_001103279.2:p.?	NC_000006.11:g.29643160T>C	(Likely) benign	1 lab	67129f1998
12:12284791 LRP6 T>G	12	12284791	12284791	T	G	LRP6	c.3934A>C	NM_002336.3	NP_002327.2:p.(Asn1312His)	NC_000012.11:g.12284791T>G	VUS	1 lab	6716523172
22:51065704 ARSA G>C	22	51065704	51065704	G	C	ARSA	c.355C>G	NM_000487.6	NP_000478.3:p.(Leu119Val)	NC_000022.10:g.51065704G>C	VUS	1 lab	671787defd
X:53409199 SMC1A C>T	X	53409199	53409199	C	T	SMC1A	c.3391G>A	NM_006306.4	NP_006297.2:p.(Gly1131Arg)	NC_000023.10:g.53409199C>T	VUS	1 lab	67182580c1
9:94487064 ROR2 T>C	9	94487064	94487064	T	C	ROR2	c.1712A>G	NM_004560.4	NP_004551.2:p.(His571Arg)	NC_000009.11:g.94487064T>C	(Likely) benign	1 lab	6719b6463c
22:45937101 FBLN1 C>T	22	45937101	45937101	C	T	FBLN1	c.923-8C>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45937101C>T	(Likely) benign	1 lab	671a09a881
11:73686548 UCP2 G>C	11	73686548	73686548	G	C	UCP2	c.803C>G	NM_003355.3	NP_003346.2:p.(Ala268Gly)	NC_000011.9:g.73686548G>C	VUS	1 lab	671b56d679
4:4864776 MSX1 G>T	4	4864776	4864776	G	T	MSX1	c.818G>T	NM_002448.3	NP_002439.2:p.(Gly273Val)	NC_000004.11:g.4864776G>T	(Likely) benign	1 lab	671bae3aca
12:49415854 KMT2D G>C	12	49415854	49415854	G	C	KMT2D	c.16493C>G	NM_003482.4	NP_003473.3:p.(Ser5498Cys)	NC_000012.11:g.49415854G>C	VUS	1 lab	671ec447e8
1:197098398 ASPM C>G	1	197098398	197098398	C	G	ASPM	c.2679G>C	NM_018136.5	NP_060606.3:p.(Leu893Phe)	NC_000001.10:g.197098398C>G	VUS	1 lab	671f69210d
13:31848657 B3GLCT C>T	13	31848657	31848657	C	T	B3GLCT	c.672C>T	NM_194318.4	NP_919299.3:p.(Tyr224=)	NC_000013.10:g.31848657C>T	(Likely) benign	1 lab	67222aceae
2:238296520 COL6A3 GC>G	2	238296520	238296525	GC	G	COL6A3	c.1016del	NM_004369.4	NP_004360.2:p.(Gly339AlafsTer15)	NC_000002.11:g.238296525del	(Likely) pathogenic	1 lab	67234a7225
2:152460230 NEB A>G	2	152460230	152460230	A	G	NEB	c.13116T>C	NM_001164508.2	NP_001157980.2:p.(Gly4372=)	NC_000002.11:g.152460230A>G	(Likely) benign	1 lab	67245f216b
14:75052565 LTBP2 TGGCGACTGTGGTGCGGGC>T	14	75052565	75052597	TGGCGACTGTGGTGCGGGC	T	LTBP2	c.804_821del	NM_000428.3	NP_000419.1:p.(Pro271_Ala276del)	NC_000014.8:g.75052580_75052597del	VUS	1 lab	6724ce5c0a
11:117232630 CEP164 C>T	11	117232630	117232630	C	T	CEP164	c.473C>T	NM_014956.5	NP_055771.4:p.(Pro158Leu)	NC_000011.9:g.117232630C>T	(Likely) benign	1 lab	6725a19c21
15:99459340 IGF1R G>A	15	99459340	99459340	G	A	IGF1R	c.1976G>A	NM_000875.5	NP_000866.1:p.(Arg659Gln)	NC_000015.9:g.99459340G>A	(Likely) benign	1 lab	672618ba7f
1:155491231 ASH1L C>T	1	155491231	155491231	C	T	ASH1L	c.80G>A	NM_018489.3	NP_060959.2:p.(Ser27Asn)	NC_000001.10:g.155491231C>T	(Likely) benign	1 lab	6726c87370
11:118374814 KMT2A C>A	11	118374814	118374814	C	A	KMT2A	c.8207C>A	NM_001197104.2	NP_001184033.1:p.(Thr2736Lys)	NC_000011.9:g.118374814C>A	VUS	1 lab	67271eac25
11:73850880 C2CD3 G>C	11	73850880	73850880	G	C	C2CD3	c.484-7C>G	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73850880G>C	VUS	1 lab	676a06e85c
14:93940738 UNC79 C>T	14	93940738	93940738	C	T	UNC79	c.447C>T	NM_001395159.1	NP_001382088.1:p.(His149=)	NC_000014.8:g.93940738C>T	(Likely) benign	1 lab	6727aab2c7
11:66189743 NPAS4 G>A	11	66189743	66189743	G	A	NPAS4	c.327+1G>A	NM_178864.4	NP_849195.2:p.?	NC_000011.9:g.66189743G>A	VUS	1 lab	672822dbd8
5:37301567 NUP155 A>T	5	37301567	37301567	A	T	NUP155	c.3533T>A	NM_153485.3	NP_705618.1:p.(Leu1178Gln)	NC_000005.9:g.37301567A>T	VUS	1 lab	67286a2f47
19:2805014 THOP1 G>A	19	2805014	2805014	G	A	THOP1	c.590G>A	NM_003249.5	NP_003240.1:p.(Gly197Glu)	NC_000019.9:g.2805014G>A	VUS	1 lab	672925641c
6:110085156 FIG4 G>A	6	110085156	110085156	G	A	FIG4	c.1405G>A	NM_014845.6	NP_055660.1:p.(Gly469Arg)	NC_000006.11:g.110085156G>A	VUS	1 lab	672aa16cd0
10:27035292 PDSS1 G>A	10	27035292	27035292	G	A	PDSS1	c.1138G>A	NM_014317.5	NP_055132.2:p.(Ala380Thr)	NC_000010.10:g.27035292G>A	VUS	1 lab	672b08a933
15:49088213 CEP152 T>G	15	49088213	49088213	T	G	CEP152	c.685A>C	NM_001194998.2	NP_001181927.1:p.(Asn229His)	NC_000015.9:g.49088213T>G	VUS	1 lab	672b4faa62
2:120020901 STEAP3 C>T	2	120020901	120020901	C	T	STEAP3	c.1484C>T	NM_182915.3	NP_878919.2:p.(Thr495Met)	NC_000002.11:g.120020901C>T	VUS	1 lab	672b8397f4
17:7401094 POLR2A C>T	17	7401094	7401094	C	T	POLR2A	c.1107C>T	NM_000937.5	NP_000928.1:p.(Pro369=)	NC_000017.10:g.7401094C>T	(Likely) benign	1 lab	672cc6e9e0
3:178941956 PIK3CA C>T	3	178941956	178941956	C	T	PIK3CA	c.2275C>T	NM_006218.4	NP_006209.2:p.(His759Tyr)	NC_000003.11:g.178941956C>T	(Likely) benign	1 lab	672e8894ef
2:74077573 STAMBP C>G	2	74077573	74077573	C	G	STAMBP	c.938C>G	NM_213622.4	NP_998787.1:p.(Thr313Arg)	NC_000002.11:g.74077573C>G	VUS	1 lab	672ea9093b
15:65684562 IGDCC4 G>A	15	65684562	65684562	G	A	IGDCC4	c.2032C>T	NM_020962.3	NP_066013.1:p.(Arg678Cys)	NC_000015.9:g.65684562G>A	VUS	1 lab	672faf1f2e
2:179643723 TTN G>A	2	179643723	179643723	G	A	TTN	c.4086C>T	NM_001267550.2	NP_001254479.2:p.(Tyr1362=)	NC_000002.11:g.179643723G>A	(Likely) benign	1 lab	672ff398b0
2:182542850 NEUROD1 C>T	2	182542850	182542850	C	T	NEUROD1	c.738G>A	NM_002500.5	NP_002491.3:p.(Pro246=)	NC_000002.11:g.182542850C>T	(Likely) benign	1 lab	6731c8f3a0
9:139395128 NOTCH1 C>A	9	139395128	139395128	C	A	NOTCH1	c.5810G>T	NM_017617.5	NP_060087.3:p.(Arg1937Leu)	NC_000009.11:g.139395128C>A	VUS	1 lab	6731d1852d
X:39931909 BCOR G>A	X	39931909	39931909	G	A	BCOR	c.2690C>T	NM_001123385.2	NP_001116857.1:p.(Ser897Leu)	NC_000023.10:g.39931909G>A	VUS	1 lab	6734a02218
X:119077412 NKAP G>A	X	119077412	119077412	G	A	NKAP	c.157C>T	NM_024528.4	NP_078804.2:p.(Arg53Trp)	NC_000023.10:g.119077412G>A	(Likely) benign	1 lab	67356b9347
15:90210935 PLIN1 G>A	15	90210935	90210935	G	A	PLIN1	c.861C>T	NM_002666.5	NP_002657.3:p.(Leu287=)	NC_000015.9:g.90210935G>A	(Likely) benign	1 lab	6735a5762b
19:40376853 FCGBP ACTT>A	19	40376853	40376861	ACTT	A	FCGBP	c.11566_11568del	NM_003890.3	NP_003881.2:p.(Lys3856del)	NC_000019.9:g.40376859_40376861del	VUS	1 lab	6736469444
17:41891391 MPP3 C>T	17	41891391	41891391	C	T	MPP3	c.1243G>A	NM_001932.6	NP_001923.2:p.(Val415Ile)	NC_000017.10:g.41891391C>T	(Likely) benign	1 lab	673655cef1
21:35987251 RCAN1 GGCCGCCTCC>G	21	35987251	35987274	GGCCGCCTCC	G	RCAN1	c.51_59del	NM_004414.7	NP_004405.3:p.(Ala20_Ala22del)	NC_000021.8:g.35987266_35987274del	VUS	1 lab	6737527743
X:41060527 USP9X C>G	X	41060527	41060527	C	G	USP9X	c.4818C>G	NM_001039591.3	NP_001034680.2:p.(Asp1606Glu)	NC_000023.10:g.41060527C>G	(Likely) benign	1 lab	67392c730a
19:7830562 CLEC4M G>A	19	7830562	7830562	G	A	CLEC4M	c.253G>A	NM_014257.5	NP_055072.3:p.(Glu85Lys)	NC_000019.9:g.7830562G>A	(Likely) benign	1 lab	673b6db228
11:6567786 DNHD1 C>A	11	6567786	6567786	C	A	DNHD1	c.5617C>A	NM_144666.3	NP_653267.2:p.(Arg1873Ser)	NC_000011.9:g.6567786C>A	(Likely) benign	1 lab	673c658cfa
14:24709259 TINF2 T>C	14	24709259	24709259	T	C	TINF2	c.1221+11A>G	NM_001099274.3	NP_001092744.1:p.?	NC_000014.8:g.24709259T>C	(Likely) benign	1 lab	673ec67d48
4:3491517 DOK7 A>C	4	3491517	3491517	A	C	DOK7	c.766A>C	NM_173660.5	NP_775931.3:p.(Ser256Arg)	NC_000004.11:g.3491517A>C	VUS	1 lab	67ed9b75a3
2:179418784 TTN T>G	2	179418784	179418784	T	G	TTN	c.89054A>C	NM_001267550.2	NP_001254479.2:p.(Lys29685Thr)	NC_000002.11:g.179418784T>G	VUS	1 lab	673ee3ebd9
8:36793269 KCNU1 C>T	8	36793269	36793269	C	T	KCNU1	c.3281C>T	NM_001031836.3	NP_001027006.2:p.(Pro1094Leu)	NC_000008.10:g.36793269C>T	(Likely) benign	1 lab	673f6a21f2
6:21595651 SOX4 G>T	6	21595651	21595651	G	T	SOX4	c.886G>T	NM_003107.3	NP_003098.1:p.(Val296Phe)	NC_000006.11:g.21595651G>T	(Likely) benign	1 lab	674051d86a
12:103260411 PAH G>A	12	103260411	103260411	G	A	PAH	c.472C>T	NM_000277.3	NP_000268.1:p.(Arg158Trp)	NC_000012.11:g.103260411G>A	(Likely) pathogenic	1 lab	674080259f
11:67816674 TCIRG1 C>A	11	67816674	67816674	C	A	TCIRG1				NC_000011.9:g.67816674C>A	(Likely) benign	1 lab	234c7703ff
2:109527253 EDAR C>T	2	109527253	109527253	C	T	EDAR	c.709G>A	NM_022336.4	NP_071731.1:p.(Glu237Lys)	NC_000002.11:g.109527253C>T	VUS	1 lab	6743872e15
17:58734119 PPM1D C>G	17	58734119	58734119	C	G	PPM1D	c.1177C>G	NM_003620.4	NP_003611.1:p.(Leu393Val)	NC_000017.10:g.58734119C>G	(Likely) benign	1 lab	6743da74c1
16:28763826 NPIPB9 G>T	16	28763826	28763826	G	T	NPIPB9	c.33G>T	NM_001287250.3	NP_001274179.1:p.(Gln11His)	NC_000016.9:g.28763826G>T	VUS	1 lab	674436f2c3
1:103496770 COL11A1 C>T	1	103496770	103496770	C	T	COL11A1	c.682G>A	NM_001854.4	NP_001845.3:p.(Asp228Asn)	NC_000001.10:g.103496770C>T	(Likely) benign	1 lab	67460a931c
9:140657127 EHMT1 G>C	9	140657127	140657127	G	C	EHMT1	c.1502G>C	NM_024757.5	NP_079033.4:p.(Gly501Ala)	NC_000009.11:g.140657127G>C	VUS	1 lab	674649db93
13:39265707 FREM2 A>C	13	39265707	39265707	A	C	FREM2	c.4226A>C	NM_207361.6	NP_997244.4:p.(Tyr1409Ser)	NC_000013.10:g.39265707A>C	VUS	1 lab	674718e63c
11:126315003 KIRREL3 A>G	11	126315003	126315003	A	G	KIRREL3	c.1126-3T>C	NM_032531.4	NP_115920.1:p.?	NC_000011.9:g.126315003A>G	(Likely) benign	1 lab	6748000216
20:62122054 EEF1A2 G>A	20	62122054	62122054	G	A	EEF1A2	c.807C>T	NM_001958.3	NP_001949.1:p.(Thr269=)	NC_000020.10:g.62122054G>A	(Likely) benign	1 lab	233361882f
11:126333111 KIRREL3 C>T	11	126333111	126333111	C	T	KIRREL3	c.683G>A	NM_032531.4	NP_115920.1:p.(Arg228His)	NC_000011.9:g.126333111C>T	(Likely) benign	1 lab	674ab4c1b6
3:58134402 FLNB G>A	3	58134402	58134402	G	A	FLNB	c.5914G>A	NM_001457.4	NP_001448.2:p.(Gly1972Ser)	NC_000003.11:g.58134402G>A	VUS	1 lab	674abb2754
14:101347355 RTL1 C>T	14	101347355	101347355	C	T	RTL1	c.3771G>A	NM_001134888.3	NP_001128360.1:p.(Gln1257=)	NC_000014.8:g.101347355C>T	(Likely) benign	1 lab	674d604689
7:39745785 RALA G>A	7	39745785	39745785	G	A	RALA	c.562G>A	NM_005402.4	NP_005393.2:p.(Gly188Arg)	NC_000007.13:g.39745785G>A	VUS	1 lab	674de2be64
17:40646370 ATP6V0A1 C>T	17	40646370	40646370	C	T	ATP6V0A1	c.1193C>T	NM_001130021.3	NP_001123493.1:p.(Thr398Met)	NC_000017.10:g.40646370C>T	VUS	1 lab	674e37ba3c
17:41243906 BRCA1 C>G	17	41243906	41243906	C	G	BRCA1	c.3642G>C	NM_007294.4	NP_009225.1:p.(Glu1214Asp)	NC_000017.10:g.41243906C>G	VUS	1 lab	674f78fffd
12:64491020 SRGAP1 G>T	12	64491020	64491020	G	T	SRGAP1	c.1679-1G>T	NM_020762.4	NP_065813.1:p.?	NC_000012.11:g.64491020G>T	(Likely) benign	1 lab	675164a268
2:132237732 TUBA3D C>T	2	132237732	132237732	C	T	TUBA3D	c.466C>T	NM_080386.4	NP_525125.2:p.(Arg156Trp)	NC_000002.11:g.132237732C>T	VUS	1 lab	675230e2ee
11:6648199 DCHS1 C>T	11	6648199	6648199	C	T	DCHS1	c.6071G>A	NM_003737.4	NP_003728.1:p.(Arg2024His)	NC_000011.9:g.6648199C>T	VUS	1 lab	67542ff60d
20:40068692 CHD6 A>T	20	40068692	40068692	A	T	CHD6	c.3955T>A	NM_032221.5	NP_115597.3:p.(Ser1319Thr)	NC_000020.10:g.40068692A>T	(Likely) benign	1 lab	675469d698
2:45169272 SIX3 A>C	2	45169272	45169272	A	C	SIX3	c.29A>C	NM_005413.4	NP_005404.1:p.(Tyr10Ser)	NC_000002.11:g.45169272A>C	VUS	1 lab	6756a96724
11:64507481 RASGRP2 G>A	11	64507481	64507481	G	A	RASGRP2	c.522+4C>T	NM_001098671.2	NP_001092141.1:p.?	NC_000011.9:g.64507481G>A	VUS	1 lab	675765e4e4
5:140255810 PCDHA1 GT>G	5	140255810	140255811	GT	G	PCDHA1	c.2394+87542del	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140255811del	VUS	1 lab	67599ebc32
15:99467825 IGF1R G>A	15	99467825	99467825	G	A	IGF1R	c.2694G>A	NM_000875.5	NP_000866.1:p.(Pro898=)	NC_000015.9:g.99467825G>A	(Likely) benign	1 lab	675a7b8bfe
14:79433542 NRXN3 TC>T	14	79433542	79433543	TC	T	NRXN3	c.2778-8del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79433543del	(Likely) benign	1 lab	675b3e9cc6
15:34048545 RYR3 C>T	15	34048545	34048545	C	T	RYR3	c.8554C>T	NM_001036.6	NP_001027.3:p.(Arg2852Cys)	NC_000015.9:g.34048545C>T	(Likely) benign	1 lab	675d7bcb67
19:1053336 ABCA7 C>T	19	1053336	1053336	C	T	ABCA7	c.3229C>T	NM_019112.4	NP_061985.2:p.(Gln1077Ter)	NC_000019.9:g.1053336C>T	VUS	1 lab	675e31e26d
X:80370234 HMGN5 C>A	X	80370234	80370234	C	A	HMGN5	c.763G>T	NM_030763.3	NP_110390.1:p.(Asp255Tyr)	NC_000023.10:g.80370234C>A	(Likely) benign	1 lab	675e6c4a7d
14:71444403 PCNX1 G>GC	14	71444403	71444404	G	GC	PCNX1	c.1350dup	NM_014982.3	NP_055797.2:p.(Ser451GlnfsTer2)	NC_000014.8:g.71444404dup	VUS	1 lab	675eb14dea
1:16358717 CLCNKA C>T	1	16358717	16358717	C	T	CLCNKA	c.1776C>T	NM_004070.4	NP_004061.3:p.(Gly592=)	NC_000001.10:g.16358717C>T	VUS	1 lab	675f864fe5
2:170044501 LRP2 T>C	2	170044501	170044501	T	C	LRP2	c.9307A>G	NM_004525.3	NP_004516.2:p.(Asn3103Asp)	NC_000002.11:g.170044501T>C	VUS	1 lab	675fe34dc5
2:51254796 NRXN1 C>G	2	51254796	51254796	C	G	NRXN1	c.616G>C	NM_001330078.2	NP_001317007.1:p.(Asp206His)	NC_000002.11:g.51254796C>G	VUS	1 lab	6760a56fc4
19:39994809 DLL3 C>T	19	39994809	39994809	C	T	DLL3	c.751C>T	NM_203486.3	NP_982353.1:p.(Pro251Ser)	NC_000019.9:g.39994809C>T	VUS	1 lab	6760a91ee4
6:117201752 RFX6 G>A	6	117201752	117201752	G	A	RFX6	c.426G>A	NM_173560.4	NP_775831.2:p.(Arg142=)	NC_000006.11:g.117201752G>A	(Likely) benign	1 lab	676283941d
X:150911796 CNGA2 G>A	X	150911796	150911796	G	A	CNGA2	c.821G>A	NM_005140.3	NP_005131.1:p.(Arg274His)	NC_000023.10:g.150911796G>A	VUS	1 lab	67634b21e3
2:15542337 NBAS C>G	2	15542337	15542337	C	G	NBAS	c.3026G>C	NM_015909.4	NP_056993.2:p.(Cys1009Ser)	NC_000002.11:g.15542337C>G	(Likely) benign	1 lab	6763cd2a42
2:210777386 UNC80 C>T	2	210777386	210777386	C	T	UNC80	c.4885C>T	NM_001371986.1	NP_001358915.1:p.(Leu1629Phe)	NC_000002.11:g.210777386C>T	VUS	1 lab	676415701e
2:166245942 SCN2A C>T	2	166245942	166245942	C	T	SCN2A	c.5626C>T	NM_001040142.2	NP_001035232.1:p.(Arg1876Ter)	NC_000002.11:g.166245942C>T	(Likely) pathogenic	1 lab	676418aee9
16:89348244 ANKRD11 C>G	16	89348244	89348244	C	G	ANKRD11	c.4706G>C	NM_013275.6	NP_037407.4:p.(Arg1569Thr)	NC_000016.9:g.89348244C>G	VUS	1 lab	676426e408
5:149360408 SLC26A2 A>G	5	149360408	149360408	A	G	SLC26A2	c.1252A>G	NM_000112.4	NP_000103.2:p.(Met418Val)	NC_000005.9:g.149360408A>G	VUS	1 lab	676471fc36
15:89402657 ACAN A>AT	15	89402657	89402663	A	AT	ACAN	c.6832+15dup	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89402663dup	(Likely) benign	1 lab	6764cc10e5
9:133759555 ABL1 C>G	9	133759555	133759555	C	G	ABL1	c.1878C>G	NM_005157.6	NP_005148.2:p.(Gly626=)	NC_000009.11:g.133759555C>G	(Likely) benign	1 lab	6765cbeda0
6:151161345 PLEKHG1 G>T	6	151161345	151161345	G	T	PLEKHG1	c.3471G>T	NM_001029884.3	NP_001025055.1:p.(Trp1157Cys)	NC_000006.11:g.151161345G>T	VUS	1 lab	6765e5ac31
22:19867758 TXNRD2 A>G	22	19867758	19867758	A	G	TXNRD2	c.1219T>C	NM_006440.5	NP_006431.2:p.(Cys407Arg)	NC_000022.10:g.19867758A>G	VUS	1 lab	67672ec9b0
6:149721529 SUMO4 T>C	6	149721529	149721529	T	C	SUMO4	c.2T>C	NM_001002255.2	NP_001002255.1:p.(Met1?)	NC_000006.11:g.149721529T>C	(Likely) benign	1 lab	676a45efa9
7:82586186 PCLO G>T	7	82586186	82586186	G	T	PCLO	c.4083C>A	NM_033026.6	NP_149015.2:p.(Ser1361Arg)	NC_000007.13:g.82586186G>T	VUS	1 lab	676a5c5a3c
6:152673313 SYNE1 G>A	6	152673313	152673313	G	A	SYNE1	c.11429C>T	NM_182961.4	NP_892006.3:p.(Thr3810Met)	NC_000006.11:g.152673313G>A	VUS	1 lab	676b01daaa
1:27874948 AHDC1 T>C	1	27874948	27874948	T	C	AHDC1	c.3679A>G	NM_001371928.1	NP_001358857.1:p.(Ser1227Gly)	NC_000001.10:g.27874948T>C	(Likely) benign	1 lab	676c0e9e8a
2:48688258 PPP1R21 AT>A	2	48688258	48688272	AT	A	PPP1R21	c.600-5del	NM_001135629.3	NP_001129101.1:p.?	NC_000002.11:g.48688272del	(Likely) benign	1 lab	676c30ef64
19:47285802 SLC1A5 G>C	19	47285802	47285802	G	C	SLC1A5	c.662C>G	NM_005628.3	NP_005619.1:p.(Pro221Arg)	NC_000019.9:g.47285802G>C	(Likely) benign	1 lab	676d38b510
X:153940737 GAB3 C>A	X	153940737	153940737	C	A	GAB3	c.836G>T	NM_001081573.3	NP_001075042.1:p.(Ser279Ile)	NC_000023.10:g.153940737C>A	(Likely) benign	1 lab	676fe6d2ce
7:88962932 ZNF804B T>G	7	88962932	88962932	T	G	ZNF804B	c.636T>G	NM_181646.5	NP_857597.1:p.(Asn212Lys)	NC_000007.13:g.88962932T>G	VUS	1 lab	6770febcc2
3:69105054 UBA3 C>T	3	69105054	69105054	C	T	UBA3	c.1251G>A	NM_003968.4	NP_003959.3:p.(Ser417=)	NC_000003.11:g.69105054C>T	VUS	1 lab	67711202af
1:40756679 ZMPSTE24 G>A	1	40756679	40756679	G	A	ZMPSTE24	c.1203+10G>A	NM_005857.5	NP_005848.2:p.?	NC_000001.10:g.40756679G>A	(Likely) benign	1 lab	67736b123c
10:78755476 KCNMA1 A>G	10	78755476	78755476	A	G	KCNMA1	c.2104+16249T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78755476A>G	(Likely) benign	1 lab	233614a813
6:31599163 PRRC2A G>A	6	31599163	31599163	G	A	PRRC2A	c.2713G>A	NM_004638.4	NP_004629.3:p.(Gly905Arg)	NC_000006.11:g.31599163G>A	(Likely) benign	1 lab	6774aa15a6
1:228466929 OBSCN G>A	1	228466929	228466929	G	A	OBSCN	c.8467G>A	NM_001386125.1	NP_001373054.1:p.(Ala2823Thr)	NC_000001.10:g.228466929G>A	VUS	1 lab	6775a133ad
2:179428523 TTN C>T	2	179428523	179428523	C	T	TTN	c.82336G>A	NM_001267550.2	NP_001254479.2:p.(Ala27446Thr)	NC_000002.11:g.179428523C>T	VUS	1 lab	677654f767
1:40768311 COL9A2 C>T	1	40768311	40768311	C	T	COL9A2	c.1774G>A	NM_001852.4	NP_001843.1:p.(Gly592Ser)	NC_000001.10:g.40768311C>T	VUS	1 lab	6777bfe3fb
8:101243518 SPAG1 C>G	8	101243518	101243518	C	G	SPAG1	c.1988+2C>G	NM_003114.5	NP_003105.2:p.?	NC_000008.10:g.101243518C>G	(Likely) pathogenic	1 lab	677a203ef6
6:29641504 ZFP57 ATGT>A	6	29641504	29641511	ATGT	A	ZFP57	c.381_383del	NM_001109809.5	NP_001103279.2:p.(Gln127del)	NC_000006.11:g.29641509_29641511del	VUS	1 lab	677b71c9ab
6:7580395 DSP T>C	6	7580395	7580395	T	C	DSP	c.3972T>C	NM_004415.2	NP_004406.2:p.(Asn1324=)	NC_000006.11:g.7580395T>C	(Likely) benign	1 lab	233a065508
11:44146455 EXT2 C>A	11	44146455	44146455	C	A	EXT2	c.860C>A	NM_207122.2	NP_997005.1:p.(Thr287Asn)	NC_000011.9:g.44146455C>A	(Likely) benign	1 lab	677d828fb4
17:33482365 UNC45B G>A	17	33482365	33482365	G	A	UNC45B	c.690G>A	NM_001267052.2	NP_001253981.1:p.(Met230Ile)	NC_000017.10:g.33482365G>A	(Likely) benign	1 lab	677dea333b
8:144885597 SCRIB G>C	8	144885597	144885597	G	C	SCRIB	c.3559C>G	NM_182706.5	NP_874365.3:p.(Leu1187Val)	NC_000008.10:g.144885597G>C	(Likely) benign	1 lab	67803da7b6
16:89857860 FANCA G>C	16	89857860	89857860	G	C	FANCA	c.1310C>G	NM_000135.4	NP_000126.2:p.(Ala437Gly)	NC_000016.9:g.89857860G>C	(Likely) benign	1 lab	6782db96e3
15:34145801 RYR3 G>C	15	34145801	34145801	G	C	RYR3	c.13717G>C	NM_001036.6	NP_001027.3:p.(Glu4573Gln)	NC_000015.9:g.34145801G>C	(Likely) benign	1 lab	6786e89c92
8:145740728 RECQL4 G>A	8	145740728	145740728	G	A	RECQL4	c.1372C>T	NM_004260.4	NP_004251.4:p.(Pro458Ser)	NC_000008.10:g.145740728G>A	VUS	1 lab	6787545245
1:39776032 MACF1 T>C	1	39776032	39776032	T	C	MACF1	c.3032T>C	NM_001394062.1	NP_001380991.1:p.(Leu1011Ser)	NC_000001.10:g.39776032T>C	(Likely) benign	1 lab	678811c23c
1:145296388 NBPF10 C>T	1	145296388	145296388	C	T	NBPF10	c.310C>T	NM_001302371.3	NP_001289300.1:p.(Arg104Ter)	NC_000001.10:g.145296388C>T	VUS	1 lab	67885d2af1
16:77317954 ADAMTS18 C>T	16	77317954	77317954	C	T	ADAMTS18	c.3565G>A	NM_199355.4	NP_955387.1:p.(Val1189Ile)	NC_000016.9:g.77317954C>T	(Likely) benign	1 lab	6788dd297f
5:112179409 APC G>C	5	112179409	112179409	G	C	APC	c.8118G>C	NM_000038.6	NP_000029.2:p.(Val2706=)	NC_000005.9:g.112179409G>C	VUS	1 lab	67893e3389
20:61444103 OGFR C>A	20	61444103	61444103	C	A	OGFR	c.1136C>A	NM_007346.4	NP_031372.2:p.(Pro379His)	NC_000020.10:g.61444103C>A	(Likely) benign	1 lab	6789f3d32f
19:50093194 PRRG2 C>G	19	50093194	50093194	C	G	PRRG2	c.475C>G	NM_000951.3	NP_000942.1:p.(Leu159Val)	NC_000019.9:g.50093194C>G	(Likely) benign	1 lab	678c52bc04
19:33902607 PEPD G>T	19	33902607	33902607	G	T	PEPD	c.789C>A	NM_000285.4	NP_000276.2:p.(Asn263Lys)	NC_000019.9:g.33902607G>T	VUS	1 lab	68537bcd82
2:238283262 COL6A3 C>T	2	238283262	238283262	C	T	COL6A3	c.3472G>A	NM_004369.4	NP_004360.2:p.(Gly1158Ser)	NC_000002.11:g.238283262C>T	VUS	1 lab	678cc4ee19
9:80038951 GNA14 C>G	9	80038951	80038951	C	G	GNA14	c.1012G>C	NM_004297.4	NP_004288.1:p.(Ala338Pro)	NC_000009.11:g.80038951C>G	VUS	1 lab	678ee7b322
17:7366368 ZBTB4 C>T	17	7366368	7366368	C	T	ZBTB4	c.1933G>A	NM_001128833.2	NP_001122305.1:p.(Glu645Lys)	NC_000017.10:g.7366368C>T	VUS	1 lab	678f97c7ee
19:6502165 TUBB4A A>T	19	6502165	6502165	A	T	TUBB4A	c.57+2T>A	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6502165A>T	VUS	1 lab	678fe5aa54
2:10188417 KLF11 T>G	2	10188417	10188417	T	G	KLF11	c.953T>G	NM_003597.5	NP_003588.1:p.(Leu318Arg)	NC_000002.11:g.10188417T>G	(Likely) benign	1 lab	6791f203a2
11:2156733 IGF2 C>A	11	2156733	2156733	C	A	IGF2	c.21G>T	NM_000612.6	NP_000603.1:p.(Lys7Asn)	NC_000011.9:g.2156733C>A	VUS	1 lab	6792971137
9:35792693 NPR2 G>A	9	35792693	35792693	G	A	NPR2	c.288G>A	NM_003995.4	NP_003986.2:p.(Leu96=)	NC_000009.11:g.35792693G>A	(Likely) benign	1 lab	6792a59cf3
1:985855 AGRN C>T	1	985855	985855	C	T	AGRN	c.5025C>T	NM_198576.4	NP_940978.2:p.(Gly1675=)	NC_000001.10:g.985855C>T	(Likely) benign	1 lab	6792b36b31
11:17418753 ABCC8 G>A	11	17418753	17418753	G	A	ABCC8	c.3975C>T	NM_000352.6	NP_000343.2:p.(Tyr1325=)	NC_000011.9:g.17418753G>A	(Likely) benign	1 lab	6793675085
8:106431368 ZFPM2 C>A	8	106431368	106431368	C	A	ZFPM2	c.41-4C>A	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106431368C>A	VUS	1 lab	6793f4e77c
9:124094767 GSN C>T	9	124094767	124094767	C	T	GSN	c.2082C>T	NM_198252.3	NP_937895.1:p.(Thr694=)	NC_000009.11:g.124094767C>T	(Likely) benign	1 lab	67970293b4
5:127866348 FBN2 G>A	5	127866348	127866348	G	A	FBN2	c.376C>T	NM_001999.4	NP_001990.2:p.(Arg126Cys)	NC_000005.9:g.127866348G>A	VUS	1 lab	6797d758f7
8:48771414 PRKDC TCTC>T	8	48771414	48771419	TCTC	T	PRKDC	c.6338_6340del	NM_006904.7	NP_008835.5:p.(Gly2113del)	NC_000008.10:g.48771417_48771419del	(Likely) benign	1 lab	67990b0e78
3:27763094 EOMES T>C	3	27763094	27763094	T	C	EOMES	c.692A>G	NM_001278182.2	NP_001265111.1:p.(Tyr231Cys)	NC_000003.11:g.27763094T>C	VUS	1 lab	6799d85952
7:96635363 DLX6 G>GGCA	7	96635363	96635387	G	GGCA	DLX6	c.96_98dup	NM_005222.4	NP_005213.3:p.(Gln44dup)	NC_000007.13:g.96635385_96635387dup	VUS	1 lab	679af7972b
22:45943039 FBLN1 C>T	22	45943039	45943039	C	T	FBLN1	c.1396C>T	NM_006486.3	NP_006477.3:p.(Arg466Trp)	NC_000022.10:g.45943039C>T	(Likely) benign	1 lab	679b048929
9:14797589 FREM1 A>C	9	14797589	14797589	A	C	FREM1	c.3746T>G	NM_001379081.2	NP_001366010.1:p.(Phe1249Cys)	NC_000009.11:g.14797589A>C	VUS	1 lab	679bddb8fb
22:41652798 RANGAP1 T>A	22	41652798	41652798	T	A	RANGAP1	c.805A>T	NM_002883.4	NP_002874.1:p.(Ile269Phe)	NC_000022.10:g.41652798T>A	VUS	1 lab	679c7c296f
19:47883100 DHX34 G>A	19	47883100	47883100	G	A	DHX34	c.2840G>A	NM_014681.6	NP_055496.2:p.(Arg947His)	NC_000019.9:g.47883100G>A	VUS	1 lab	679e106add
X:71812955 PHKA1 T>G	X	71812955	71812955	T	G	PHKA1	c.3242A>C	NM_002637.4	NP_002628.2:p.(Lys1081Thr)	NC_000023.10:g.71812955T>G	VUS	1 lab	679e20cb4d
3:169524664 LRRC34 C>A	3	169524664	169524664	C	A	LRRC34	c.500G>T	NM_001172779.2	NP_001166250.1:p.(Gly167Val)	NC_000003.11:g.169524664C>A	VUS	1 lab	679e3826a6
1:22161304 HSPG2 G>A	1	22161304	22161304	G	A	HSPG2	c.10588C>T	NM_005529.7	NP_005520.4:p.(Arg3530Trp)	NC_000001.10:g.22161304G>A	(Likely) benign	1 lab	679e384a0e
19:41186859 NUMBL C>T	19	41186859	41186859	C	T	NUMBL	c.503G>A	NM_004756.5	NP_004747.1:p.(Arg168His)	NC_000019.9:g.41186859C>T	VUS	1 lab	679fc5c4c4
2:208986503 CRYGD C>T	2	208986503	208986503	C	T	CRYGD	c.419G>A	NM_006891.4	NP_008822.2:p.(Arg140Gln)	NC_000002.11:g.208986503C>T	(Likely) benign	1 lab	67a0356a7c
11:71174492 NADSYN1 G>A	11	71174492	71174492	G	A	NADSYN1	c.278G>A	NM_018161.5	NP_060631.2:p.(Arg93Gln)	NC_000011.9:g.71174492G>A	VUS	1 lab	67a20fe892
2:103343425 SLC67A2 C>T	2	103343425	103343425	C	T	SLC67A2	c.306G>A	NM_032718.5	NP_116107.3:p.(Trp102Ter)	NC_000002.11:g.103343425C>T	(Likely) benign	1 lab	67a339c096
15:90185559 KIF7 C>T	15	90185559	90185559	C	T	KIF7	c.2269G>A	NM_198525.3	NP_940927.2:p.(Ala757Thr)	NC_000015.9:g.90185559C>T	(Likely) benign	1 lab	67a364c997
5:56111455 MAP3K1 G>A	5	56111455	56111455	G	A	MAP3K1	c.55G>A	NM_005921.2	NP_005912.1:p.(Ala19Thr)	NC_000005.9:g.56111455G>A	VUS	1 lab	67a415b615
17:78449497 NPTX1 A>C	17	78449497	78449497	A	C	NPTX1	c.466T>G	NM_002522.4	NP_002513.2:p.(Ser156Ala)	NC_000017.10:g.78449497A>C	VUS	1 lab	67a42d09d4
11:15994395 SOX6 C>T	11	15994395	15994395	C	T	SOX6	c.2447G>A	NM_001367873.1	NP_001354802.1:p.(Ser816Asn)	NC_000011.9:g.15994395C>T	VUS	1 lab	67a546945b
4:5733278 EVC G>A	4	5733278	5733278	G	A	EVC	c.511G>A	NM_153717.3	NP_714928.1:p.(Asp171Asn)	NC_000004.11:g.5733278G>A	VUS	1 lab	67a6f09421
10:79795166 RPS24 G>A	10	79795166	79795166	G	A	RPS24	c.60G>A	NM_033022.4	NP_148982.1:p.(Arg20=)	NC_000010.10:g.79795166G>A	(Likely) benign	1 lab	67a9477fb8
X:118221552 KIAA1210 C>T	X	118221552	118221552	C	T	KIAA1210	c.3113G>A	NM_001394962.1	NP_001381891.1:p.(Gly1038Asp)	NC_000023.10:g.118221552C>T	(Likely) benign	1 lab	67a971cae1
20:35882748 GHRH AAG>A	20	35882748	35882753	AAG	A	GHRH	c.189-18_189-17del	NM_021081.6	NP_066567.1:p.?	NC_000020.10:g.35882752_35882753del	(Likely) benign	1 lab	67a9af6ab1
12:121416915 HNF1A G>A	12	121416915	121416915	G	A	HNF1A	c.326+18G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121416915G>A	(Likely) benign	1 lab	67adb17cd6
8:144999005 PLEC G>A	8	144999005	144999005	G	A	PLEC	c.5092C>T	NM_201384.3	NP_958786.1:p.(Arg1698Trp)	NC_000008.10:g.144999005G>A	VUS	1 lab	67afd55900
11:44146514 EXT2 G>A	11	44146514	44146514	G	A	EXT2	c.919G>A	NM_207122.2	NP_997005.1:p.(Asp307Asn)	NC_000011.9:g.44146514G>A	VUS	1 lab	67b0609912
7:82583911 PCLO TC>T	7	82583911	82583912	TC	T	PCLO	c.6357del	NM_033026.6	NP_149015.2:p.(Thr2120ProfsTer13)	NC_000007.13:g.82583912del	VUS	1 lab	67b65b0d40
3:126207127 UROC1 G>A	3	126207127	126207127	G	A	UROC1	c.1709-5C>T	NM_144639.3	NP_653240.1:p.?	NC_000003.11:g.126207127G>A	(Likely) benign	1 lab	67b7b0b185
1:40768422 COL9A2 T>C	1	40768422	40768422	T	C	COL9A2	c.1663A>G	NM_001852.4	NP_001843.1:p.(Met555Val)	NC_000001.10:g.40768422T>C	(Likely) benign	1 lab	67bc0c49a5
7:44189603 GCK C>T	7	44189603	44189603	C	T	GCK	c.544G>A	NM_000162.5	NP_000153.1:p.(Val182Met)	NC_000007.13:g.44189603C>T	(Likely) pathogenic	1 lab	67bc566627
5:149758543 TCOF1 A>C	5	149758543	149758543	A	C	TCOF1	c.2416A>C	NM_001371623.1	NP_001358552.1:p.(Ile806Leu)	NC_000005.9:g.149758543A>C	VUS	1 lab	67bc89681c
11:101828970 CEP126 A>G	11	101828970	101828970	A	G	CEP126	c.578A>G	NM_020802.4	NP_065853.3:p.(Lys193Arg)	NC_000011.9:g.101828970A>G	(Likely) benign	1 lab	67be06df88
8:70650358 SLCO5A1 A>T	8	70650358	70650358	A	T	SLCO5A1	c.1340T>A	NM_030958.3	NP_112220.2:p.(Ile447Asn)	NC_000008.10:g.70650358A>T	VUS	1 lab	67c01bdfaf
9:95481716 BICD2 T>C	9	95481716	95481716	T	C	BICD2	c.1211A>G	NM_001003800.2	NP_001003800.1:p.(Lys404Arg)	NC_000009.11:g.95481716T>C	(Likely) benign	1 lab	67c0574c04
3:52548465 STAB1 C>T	3	52548465	52548465	C	T	STAB1	c.3631C>T	NM_015136.3	NP_055951.2:p.(Leu1211Phe)	NC_000003.11:g.52548465C>T	(Likely) benign	1 lab	67ce3e9492
11:103349893 DYNC2H1 G>C	11	103349893	103349893	G	C	DYNC2H1	c.12836G>C	NM_001377.3	NP_001368.2:p.(Arg4279Pro)	NC_000011.9:g.103349893G>C	VUS	1 lab	67ce58baa3
6:168376847 MISSING C>CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	6	168376847	168376866	C	CAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGG	MISSING				NC_000006.11:g.168376865_168376866insCTCCCCCTGCAGTGTGTGTGGGGAGGAGGAGGCAGTGGGGGTCACTCCCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGGGGGGAGGAGAAGACAGTGGGGGTCATTCCCCCTGCAGTGTGCGGGGAGGAGGAGGCAGTGGGGGTCA	VUS	1 lab	67c0da1c6f
2:86310235 POLR1A C>T	2	86310235	86310235	C	T	POLR1A	c.787G>A	NM_015425.6	NP_056240.2:p.(Glu263Lys)	NC_000002.11:g.86310235C>T	(Likely) benign	1 lab	67c12c1e07
13:23911602 SACS T>A	13	23911602	23911602	T	A	SACS	c.6413A>T	NM_014363.6	NP_055178.3:p.(Asp2138Val)	NC_000013.10:g.23911602T>A	VUS	1 lab	67c2254f9a
3:12531469 TSEN2 T>C	3	12531469	12531469	T	C	TSEN2	c.170T>C	NM_025265.4	NP_079541.1:p.(Ile57Thr)	NC_000003.11:g.12531469T>C	(Likely) benign	1 lab	67c2720a32
X:47919927 ZNF630 G>A	X	47919927	47919927	G	A	ZNF630	c.143-3C>T	NM_001282201.2	NP_001269130.1:p.?	NC_000023.10:g.47919927G>A	(Likely) benign	1 lab	67c5ed9c2d
12:15103604 ARHGDIB C>T	12	15103604	15103604	C	T	ARHGDIB	c.43G>A	NM_001175.7	NP_001166.3:p.(Asp15Asn)	NC_000012.11:g.15103604C>T	VUS	1 lab	67c998d85a
2:179479403 TTN C>T	2	179479403	179479403	C	T	TTN	c.48838G>A	NM_001267550.2	NP_001254479.2:p.(Ala16280Thr)	NC_000002.11:g.179479403C>T	(Likely) benign	1 lab	67c9a31710
15:99645685 SYNM G>GAGCTGCAGC	15	99645685	99645694	G	GAGCTGCAGC	SYNM	c.281_289dup	NM_145728.3	NP_663780.2:p.(Gln96_Arg97insGlnLeuGln)	NC_000015.9:g.99645686_99645694dup	VUS	1 lab	67cb41f1dd
20:16717979 SNRPB2 AAAAAG>A	20	16717979	16717993	AAAAAG	A	SNRPB2	c.321_325del	NM_003092.5	NP_003083.1:p.(Lys108SerfsTer24)	NC_000020.10:g.16717989_16717993del	VUS	1 lab	67cb94712f
3:53264474 TKT A>G	3	53264474	53264474	A	G	TKT	c.1106T>C	NM_001064.4	NP_001055.1:p.(Met369Thr)	NC_000003.11:g.53264474A>G	VUS	1 lab	67cc7a7627
9:135946935 CEL GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC>G	9	135946935	135947081	GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC	G	CEL	c.2061_2192del	NM_001807.6	NP_001798.3:p.(Gly688_Ser731del)	NC_000009.11:g.135946950_135947081del	(Likely) benign	1 lab	67cd0543fe
16:53726183 RPGRIP1L C>G	16	53726183	53726183	C	G	RPGRIP1L	c.324G>C	NM_015272.5	NP_056087.2:p.(Met108Ile)	NC_000016.9:g.53726183C>G	(Likely) benign	1 lab	67cd13df3f
7:151896510 KMT2C C>T	7	151896510	151896510	C	T	KMT2C	c.4127G>A	NM_170606.3	NP_733751.2:p.(Ser1376Asn)	NC_000007.13:g.151896510C>T	VUS	1 lab	67cecb035e
19:38714854 DPF1 G>A	19	38714854	38714854	G	A	DPF1	c.-72C>T	NM_001135155.3	NP_001128627.2:p.?	NC_000019.9:g.38714854G>A	VUS	1 lab	67cf3d3a29
10:78872077 KCNMA1 G>T	10	78872077	78872077	G	T	KCNMA1	c.960+48C>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78872077G>T	(Likely) benign	1 lab	233f6818df
15:89388867 ACAN G>A	15	89388867	89388867	G	A	ACAN	c.1183G>A	NM_001369268.1	NP_001356197.1:p.(Gly395Ser)	NC_000015.9:g.89388867G>A	(Likely) benign	1 lab	67cfddf2f7
4:980903 IDUA C>G	4	980903	980903	C	G	IDUA	c.31C>G	NM_000203.5	NP_000194.2:p.(Leu11Val)	NC_000004.11:g.980903C>G	VUS	1 lab	67d07dc2c2
16:15808786 MYH11 G>T	16	15808786	15808786	G	T	MYH11	c.5766C>A	NM_002474.3	NP_002465.1:p.(Asn1922Lys)	NC_000016.9:g.15808786G>T	VUS	1 lab	67d0ed96a3
7:21609724 DNAH11 G>A	7	21609724	21609724	G	A	DNAH11	c.1232G>A	NM_001277115.2	NP_001264044.1:p.(Gly411Glu)	NC_000007.13:g.21609724G>A	VUS	1 lab	67d10168d1
15:99250976 IGF1R G>A	15	99250976	99250976	G	A	IGF1R	c.280G>A	NM_000875.5	NP_000866.1:p.(Glu94Lys)	NC_000015.9:g.99250976G>A	(Likely) benign	1 lab	67d1328781
1:39908165 MACF1 G>A	1	39908165	39908165	G	A	MACF1	c.19030G>A	NM_001394062.1	NP_001380991.1:p.(Glu6344Lys)	NC_000001.10:g.39908165G>A	(Likely) benign	1 lab	67d1392943
21:41446993 DSCAM C>T	21	41446993	41446993	C	T	DSCAM	c.4859G>A	NM_001389.5	NP_001380.2:p.(Arg1620Gln)	NC_000021.8:g.41446993C>T	VUS	1 lab	234353b433
22:51160533 SHANK3 G>A	22	51160533	51160533	G	A	SHANK3	c.4497G>A	NM_001372044.2	NP_001358973.1:p.(Lys1499=)	NC_000022.10:g.51160533G>A	VUS	1 lab	67d73195a5
19:13563756 CACNA1A G>A	19	13563756	13563756	G	A	CACNA1A	c.473C>T	NM_001127222.2	NP_001120694.1:p.(Ala158Val)	NC_000019.9:g.13563756G>A	VUS	1 lab	67d7c721a3
21:35830948 KCNE1 C>T	21	35830948	35830948	C	T	KCNE1	c.-51+4G>A	NM_000219.6	NP_000210.2:p.?	NC_000021.8:g.35830948C>T	(Likely) benign	1 lab	67d802d59a
4:140283079 NAA15 G>A	4	140283079	140283079	G	A	NAA15	c.1741G>A	NM_057175.5	NP_476516.1:p.(Glu581Lys)	NC_000004.11:g.140283079G>A	(Likely) benign	1 lab	67d836c95b
19:51171402 SHANK1 A>G	19	51171402	51171402	A	G	SHANK1	c.3815T>C	NM_016148.5	NP_057232.2:p.(Leu1272Pro)	NC_000019.9:g.51171402A>G	(Likely) benign	1 lab	67d9210e1a
11:65310662 LTBP3 A>G	11	65310662	65310662	A	G	LTBP3	c.2510T>C	NM_001130144.3	NP_001123616.1:p.(Ile837Thr)	NC_000011.9:g.65310662A>G	(Likely) benign	1 lab	67da5ad7a8
10:104160708 NFKB2 G>A	10	104160708	104160708	G	A	NFKB2	c.1973G>A	NM_001322934.2	NP_001309863.1:p.(Arg658Gln)	NC_000010.10:g.104160708G>A	(Likely) benign	1 lab	67db6da9d1
21:47821622 PCNT G>A	21	47821622	47821622	G	A	PCNT	c.4949G>A	NM_006031.6	NP_006022.3:p.(Arg1650Gln)	NC_000021.8:g.47821622G>A	VUS	1 lab	67e2262671
X:127185311 ACTRT1 T>C	X	127185311	127185311	T	C	ACTRT1	c.875A>G	NM_138289.4	NP_612146.1:p.(Asn292Ser)	NC_000023.10:g.127185311T>C	(Likely) benign	1 lab	67e5123698
7:120629916 CPED1 A>G	7	120629916	120629916	A	G	CPED1	c.241A>G	NM_024913.5	NP_079189.4:p.(Thr81Ala)	NC_000007.13:g.120629916A>G	(Likely) benign	1 lab	67e5d80753
6:97339239 NDUFAF4 G>A	6	97339239	97339239	G	A	NDUFAF4	c.269C>T	NM_014165.4	NP_054884.1:p.(Pro90Leu)	NC_000006.11:g.97339239G>A	VUS	1 lab	67e7a334ab
11:111965687 SDHD AG>A	11	111965687	111965688	AG	A	SDHD	c.474del	NM_003002.4	NP_002993.1:p.(Lys158AsnfsTer10)	NC_000011.9:g.111965688del	VUS	1 lab	67e7c69c87
2:179429015 TTN T>C	2	179429015	179429015	T	C	TTN	c.81844A>G	NM_001267550.2	NP_001254479.2:p.(Lys27282Glu)	NC_000002.11:g.179429015T>C	VUS	1 lab	67e8977c59
11:17417381 ABCC8 G>A	11	17417381	17417381	G	A	ABCC8	c.4198+18C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17417381G>A	(Likely) benign	1 lab	67ea745864
8:145619924 CPSF1 G>A	8	145619924	145619924	G	A	CPSF1	c.3502C>T	NM_013291.3	NP_037423.2:p.(Gln1168Ter)	NC_000008.10:g.145619924G>A	VUS	1 lab	67ead58842
4:36283591 DTHD1 T>G	4	36283591	36283591	T	G	DTHD1	c.211T>G	NM_001170700.3	NP_001164171.2:p.(Ser71Ala)	NC_000004.11:g.36283591T>G	VUS	1 lab	67eaea5fee
16:3658568 SLX4 G>A	16	3658568	3658568	G	A	SLX4	c.398C>T	NM_032444.4	NP_115820.2:p.(Pro133Leu)	NC_000016.9:g.3658568G>A	VUS	1 lab	67ed2d171d
9:139890130 CLIC3 G>T	9	139890130	139890130	G	T	CLIC3	c.113C>A	NM_004669.3	NP_004660.2:p.(Pro38His)	NC_000009.11:g.139890130G>T	(Likely) benign	1 lab	67ee399f65
7:107580500 LAMB1 T>C	7	107580500	107580500	T	C	LAMB1	c.3695A>G	NM_002291.3	NP_002282.2:p.(Asp1232Gly)	NC_000007.13:g.107580500T>C	VUS	1 lab	67f0f604bb
12:49425964 KMT2D G>T	12	49425964	49425964	G	T	KMT2D	c.12524C>A	NM_003482.4	NP_003473.3:p.(Pro4175Gln)	NC_000012.11:g.49425964G>T	(Likely) benign	1 lab	67f11d627c
17:27869921 TAOK1 C>T	17	27869921	27869921	C	T	TAOK1	c.2887C>T	NM_020791.4	NP_065842.1:p.(Arg963Cys)	NC_000017.10:g.27869921C>T	VUS	1 lab	67f1cff835
17:8064797 VAMP2 T>G	17	8064797	8064797	T	G	VAMP2	c.328A>C	NM_014232.3	NP_055047.2:p.(Ile110Leu)	NC_000017.10:g.8064797T>G	(Likely) benign	1 lab	67f24d373a
X:153580557 FLNA C>G	X	153580557	153580557	C	G	FLNA	c.6761G>C	NM_001110556.2	NP_001104026.1:p.(Gly2254Ala)	NC_000023.10:g.153580557C>G	VUS	1 lab	67f2b53f4b
4:103806345 CISD2 G>A	4	103806345	103806345	G	A	CISD2	c.104-28G>A	NM_001008388.5	NP_001008389.1:p.?	NC_000004.11:g.103806345G>A	(Likely) benign	1 lab	67f590fa3c
7:104753125 KMT2E T>C	7	104753125	104753125	T	C	KMT2E	c.4922T>C	NM_182931.3	NP_891847.1:p.(Val1641Ala)	NC_000007.13:g.104753125T>C	(Likely) benign	1 lab	67f5da86d9
22:42523514 CYP2D6 C>T	22	42523514	42523514	C	T	CYP2D6	c.1108G>A	NM_000106.6	NP_000097.3:p.(Val370Ile)	NC_000022.10:g.42523514C>T	VUS	1 lab	67f614718e
5:141052156 ARAP3 G>A	5	141052156	141052156	G	A	ARAP3	c.1348C>T	NM_022481.6	NP_071926.4:p.(Arg450Ter)	NC_000005.9:g.141052156G>A	VUS	1 lab	67f6328edc
11:1478181 BRSK2 G>A	11	1478181	1478181	G	A	BRSK2	c.1939+264G>A	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1478181G>A	(Likely) benign	1 lab	67f6f2dc0a
15:101112089 LINS1 A>T	15	101112089	101112089	A	T	LINS1	c.1394+10T>A	NM_001040616.3	NP_001035706.2:p.?	NC_000015.9:g.101112089A>T	VUS	1 lab	67faa1e432
1:35478033 ZMYM6 TGAA>T	1	35478033	35478040	TGAA	T	ZMYM6	c.942_944del	NM_007167.4	NP_009098.3:p.(Ser315del)	NC_000001.10:g.35478038_35478040del	VUS	1 lab	67fac33e63
19:36218405 KMT2B G>A	19	36218405	36218405	G	A	KMT2B	c.4184G>A	NM_014727.3	NP_055542.1:p.(Gly1395Glu)	NC_000019.9:g.36218405G>A	VUS	1 lab	67facd0ebd
20:61452549 COL9A3 C>G	20	61452549	61452549	C	G	COL9A3	c.326C>G	NM_001853.4	NP_001844.3:p.(Pro109Arg)	NC_000020.10:g.61452549C>G	VUS	1 lab	67fb5be765
2:231405597 SP100 G>A	2	231405597	231405597	G	A	SP100	c.2217G>A	NM_001080391.2	NP_001073860.1:p.(Pro739=)	NC_000002.11:g.231405597G>A	VUS	1 lab	67fbb07e8a
8:38271151 FGFR1 G>A	8	38271151	38271151	G	A	FGFR1	c.2464C>T	NM_023110.3	NP_075598.2:p.(Arg822Cys)	NC_000008.10:g.38271151G>A	(Likely) benign	1 lab	67fdd8c2e6
10:13699265 FRMD4A G>A	10	13699265	13699265	G	A	FRMD4A	c.2324C>T	NM_018027.5	NP_060497.3:p.(Ser775Leu)	NC_000010.10:g.13699265G>A	VUS	1 lab	67fe5c0096
6:43013046 CUL7 C>T	6	43013046	43013046	C	T	CUL7	c.2957G>A	NM_014780.5	NP_055595.2:p.(Arg986His)	NC_000006.11:g.43013046C>T	VUS	1 lab	67ff3f3a7d
2:220416843 OBSL1 C>A	2	220416843	220416843	C	A	OBSL1	c.5404G>T	NM_015311.3	NP_056126.1:p.(Glu1802Ter)	NC_000002.11:g.220416843C>A	(Likely) pathogenic	1 lab	67ffdbe22f
10:24727418 KIAA1217 T>G	10	24727418	24727418	T	G	KIAA1217	c.846+10T>G	NM_019590.5	NP_062536.2:p.?	NC_000010.10:g.24727418T>G	(Likely) benign	1 lab	68007a961d
19:42799299 CIC T>TC	19	42799299	42799306	T	TC	CIC	c.7517dup	NM_001386298.1	NP_001373227.1:p.(Pro2507ThrfsTer16)	NC_000019.9:g.42799306dup	VUS	1 lab	6800adc926
13:45148690 TSC22D1 CTGT>C	13	45148690	45148707	CTGT	C	TSC22D1	c.1518_1520del	NM_183422.4	NP_904358.2:p.(Gln509del)	NC_000013.10:g.45148705_45148707del	(Likely) benign	1 lab	6801e2c332
17:42987563 GFAP G>A	17	42987563	42987563	G	A	GFAP	c.1171+420C>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987563G>A	VUS	1 lab	681397d690
17:18668084 FBXW10 C>T	17	18668084	18668084	C	T	FBXW10	c.1463C>T	NM_001267585.2	NP_001254514.1:p.(Thr488Ile)	NC_000017.10:g.18668084C>T	VUS	1 lab	6803f91293
12:21960344 ABCC9 G>C	12	21960344	21960344	G	C	ABCC9	c.4385C>G	NM_020297.2	NP_064693.2:p.(Ala1462Gly)	NC_000012.11:g.21960344G>C	(Likely) pathogenic	1 lab	234a88bf39
12:121432070 HNF1A AAAG>A	12	121432070	121432079	AAAG	A	HNF1A	c.824_826del	NM_000545.8	NP_000536.6:p.(Glu275del)	NC_000012.11:g.121432077_121432079del	(Likely) pathogenic	1 lab	6804ab18e7
11:126141451 FOXRED1 G>A	11	126141451	126141451	G	A	FOXRED1	c.205G>A	NM_017547.4	NP_060017.1:p.(Val69Met)	NC_000011.9:g.126141451G>A	VUS	1 lab	6804d9ebda
11:44148505 EXT2 G>A	11	44148505	44148505	G	A	EXT2	c.1079G>A	NM_207122.2	NP_997005.1:p.(Arg360Lys)	NC_000011.9:g.44148505G>A	VUS	1 lab	68052f3000
15:89398795 ACAN C>T	15	89398795	89398795	C	T	ACAN	c.2979C>T	NM_001369268.1	NP_001356197.1:p.(Ser993=)	NC_000015.9:g.89398795C>T	(Likely) benign	1 lab	6805d68086
1:26510299 CNKSR1 C>T	1	26510299	26510299	C	T	CNKSR1	c.833C>T	NM_006314.3	NP_006305.2:p.(Pro278Leu)	NC_000001.10:g.26510299C>T	(Likely) benign	1 lab	680935416a
1:31532217 PUM1 G>A	1	31532217	31532217	G	A	PUM1	c.197C>T	NM_001020658.2	NP_001018494.1:p.(Pro66Leu)	NC_000001.10:g.31532217G>A	VUS	1 lab	680aba8a5d
1:17559441 PADI1 T>A	1	17559441	17559441	T	A	PADI1	c.1289T>A	NM_013358.3	NP_037490.2:p.(Ile430Asn)	NC_000001.10:g.17559441T>A	VUS	1 lab	680b5c6f2e
6:117246815 RFX6 G>A	6	117246815	117246815	G	A	RFX6	c.1878G>A	NM_173560.4	NP_775831.2:p.(Pro626=)	NC_000006.11:g.117246815G>A	(Likely) benign	1 lab	680bc78490
15:38776733 FAM98B ATTATGGTGGAAGAGGGGG>A	15	38776733	38776769	ATTATGGTGGAAGAGGGGG	A	FAM98B	c.1194_1211del	NM_173611.4	NP_775882.2:p.(Gly404_Gly409del)	NC_000015.9:g.38776752_38776769del	VUS	1 lab	680de61494
9:133300515 HMCN2 C>T	9	133300515	133300515	C	T	HMCN2	c.13639C>T	NM_001291815.2	NP_001278744.1:p.(Gln4547Ter)	NC_000009.11:g.133300515C>T	(Likely) benign	1 lab	68105c81b1
4:82126134 PRKG2 G>C	4	82126134	82126134	G	C	PRKG2	c.68C>G	NM_006259.3	NP_006250.1:p.(Thr23Ser)	NC_000004.11:g.82126134G>C	(Likely) benign	1 lab	6814132a0b
1:6636580 TAS1R1 T>C	1	6636580	6636580	T	C	TAS1R1	c.1366T>C	NM_138697.4	NP_619642.2:p.(Trp456Arg)	NC_000001.10:g.6636580T>C	VUS	1 lab	6814cddc5a
6:30893700 VARS2 G>A	6	30893700	30893700	G	A	VARS2	c.3005G>A	NM_020442.6	NP_065175.4:p.(Arg1002Gln)	NC_000006.11:g.30893700G>A	VUS	1 lab	68163490fa
11:124745573 ROBO3 G>T	11	124745573	124745573	G	T	ROBO3	c.2413G>T	NM_022370.4	NP_071765.2:p.(Glu805Ter)	NC_000011.9:g.124745573G>T	VUS	1 lab	68172ef49d
9:117808880 TNC C>T	9	117808880	117808880	C	T	TNC	c.4934G>A	NM_002160.4	NP_002151.2:p.(Gly1645Glu)	NC_000009.11:g.117808880C>T	VUS	1 lab	681759f4cc
6:75884768 COL12A1 C>T	6	75884768	75884768	C	T	COL12A1	c.2696G>A	NM_004370.6	NP_004361.3:p.(Gly899Glu)	NC_000006.11:g.75884768C>T	VUS	1 lab	681815406f
6:12123590 HIVEP1 C>T	6	12123590	12123590	C	T	HIVEP1	c.3562C>T	NM_002114.4	NP_002105.3:p.(Arg1188Trp)	NC_000006.11:g.12123590C>T	(Likely) benign	1 lab	681889302c
17:62038551 SCN4A A>C	17	62038551	62038551	A	C	SCN4A	c.1845+2T>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62038551A>C	(Likely) benign	1 lab	681a522e13
13:28498650 PDX1 G>A	13	28498650	28498650	G	A	PDX1	c.664G>A	NM_000209.4	NP_000200.1:p.(Glu222Lys)	NC_000013.10:g.28498650G>A	(Likely) benign	1 lab	6827e22006
2:198351779 HSPD1 GCCACCTCCCATA>G	2	198351779	198351802	GCCACCTCCCATA	G	HSPD1	c.1701_1712del	NM_002156.5	NP_002147.2:p.(Gly569_Met572del)	NC_000002.11:g.198351791_198351802del	VUS	1 lab	220190520b
6:39869581 DAAM2 G>A	6	39869581	39869581	G	A	DAAM2	c.2983-8G>A	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39869581G>A	(Likely) benign	1 lab	234ddf383a
6:129636992 LAMA2 T>A	6	129636992	129636992	T	A	LAMA2	c.3821T>A	NM_000426.4	NP_000417.3:p.(Val1274Glu)	NC_000006.11:g.129636992T>A	(Likely) benign	1 lab	681d6301b5
4:140625183 MGST2 C>T	4	140625183	140625183	C	T	MGST2	c.325C>T	NM_002413.5	NP_002404.1:p.(Arg109Ter)	NC_000004.11:g.140625183C>T	VUS	1 lab	681eff93c4
4:88537216 DSPP T>TAGCAGAGAC	4	88537216	88537222	T	TAGCAGAGAC	DSPP	c.3407_3408insAGACAGCAG	NM_014208.3	NP_055023.2:p.(Ser1135_Ser1136insArgAspSer)	NC_000004.11:g.88537221_88537222insAGACAGCAG	VUS	1 lab	681f9524a4
4:1980427 NSD2 C>T	4	1980427	1980427	C	T	NSD2	c.3889C>T	NM_001042424.3	NP_001035889.1:p.(His1297Tyr)	NC_000004.11:g.1980427C>T	VUS	1 lab	681fcb4aa8
8:144990531 PLEC G>A	8	144990531	144990531	G	A	PLEC	c.13458C>T	NM_201384.3	NP_958786.1:p.(Thr4486=)	NC_000008.10:g.144990531G>A	VUS	1 lab	6820039815
1:32267300 SPOCD1 C>T	1	32267300	32267300	C	T	SPOCD1	c.1390G>A	NM_144569.7	NP_653170.3:p.(Val464Met)	NC_000001.10:g.32267300C>T	(Likely) benign	1 lab	68207e9244
2:169985530 LRP2 T>A	2	169985530	169985530	T	A	LRP2	c.13793A>T	NM_004525.3	NP_004516.2:p.(Tyr4598Phe)	NC_000002.11:g.169985530T>A	VUS	1 lab	682173f9ae
1:161200912 NR1I3 G>C	1	161200912	161200912	G	C	NR1I3	c.806C>G	NM_005122.5	NP_005113.1:p.(Ser269Cys)	NC_000001.10:g.161200912G>C	VUS	1 lab	682232845b
2:127819709 BIN1 G>A	2	127819709	127819709	G	A	BIN1	c.839C>T	NM_139343.3	NP_647593.1:p.(Thr280Met)	NC_000002.11:g.127819709G>A	VUS	1 lab	6825409a8e
8:145738754 RECQL4 G>GGCC	8	145738754	145738757	G	GGCC	RECQL4	c.2307_2309dup	NM_004260.4	NP_004251.4:p.(Ala770dup)	NC_000008.10:g.145738755_145738757dup	VUS	1 lab	6825a23c86
2:27707094 IFT172 C>T	2	27707094	27707094	C	T	IFT172	c.336G>A	NM_015662.3	NP_056477.1:p.(Thr112=)	NC_000002.11:g.27707094C>T	VUS	1 lab	682748a5a3
11:73789643 C2CD3 C>T	11	73789643	73789643	C	T	C2CD3	c.4120G>A	NM_001286577.2	NP_001273506.1:p.(Asp1374Asn)	NC_000011.9:g.73789643C>T	VUS	1 lab	2202528bb4
18:11888700 MPPE1 G>A	18	11888700	11888700	G	A	MPPE1	c.537C>T	NM_023075.6	NP_075563.3:p.(Ser179=)	NC_000018.9:g.11888700G>A	(Likely) benign	1 lab	6829082a2e
11:62462077 BSCL2 G>A	11	62462077	62462077	G	A	BSCL2	c.593C>T	NM_001122955.4	NP_001116427.1:p.(Thr198Ile)	NC_000011.9:g.62462077G>A	VUS	1 lab	6829b645fc
9:43626602 SPATA31A6 C>T	9	43626602	43626602	C	T	SPATA31A6	c.2085G>A	NM_001145196.1	NP_001138668.1:p.(Glu695=)	NC_000009.11:g.43626602C>T	(Likely) benign	1 lab	682ab374bd
17:30264447 SUZ12 CGGCAGCGGCGGGGGCTGCGGT>C	17	30264447	30264469	CGGCAGCGGCGGGGGCTGCGGT	C	SUZ12	c.184_204del	NM_015355.4	NP_056170.2:p.(Ala62_Val68del)	NC_000017.10:g.30264449_30264469del	VUS	1 lab	682aeaa1d9
3:138193077 ESYT3 G>A	3	138193077	138193077	G	A	ESYT3	c.2351G>A	NM_031913.5	NP_114119.2:p.(Cys784Tyr)	NC_000003.11:g.138193077G>A	VUS	1 lab	682b908898
11:46880626 LRP4 C>T	11	46880626	46880626	C	T	LRP4	c.5626G>A	NM_002334.4	NP_002325.2:p.(Val1876Ile)	NC_000011.9:g.46880626C>T	VUS	1 lab	682bfe7739
2:231865203 SPATA3 T>C	2	231865203	231865203	T	C	SPATA3	c.424T>C	NM_139073.5	NP_620712.2:p.(Trp142Arg)	NC_000002.11:g.231865203T>C	VUS	1 lab	682d869f15
15:101592175 LRRK1 G>T	15	101592175	101592175	G	T	LRRK1	c.3689+10G>T	NM_024652.6	NP_078928.3:p.?	NC_000015.9:g.101592175G>T	VUS	1 lab	682e6064c2
6:32170322 NOTCH4 A>G	6	32170322	32170322	A	G	NOTCH4	c.3286T>C	NM_004557.4	NP_004548.3:p.(Cys1096Arg)	NC_000006.11:g.32170322A>G	VUS	1 lab	682f2d4b27
5:93753067 KIAA0825 TGTTCTTGAAAGGTAC>T	5	93753067	93753094	TGTTCTTGAAAGGTAC	T	KIAA0825	c.2498-12_2500del	NM_001145678.3	NP_001139150.1:p.?	NC_000005.9:g.93753080_93753094del	(Likely) benign	1 lab	682f3b0169
5:78264985 ARSB AG>A	5	78264985	78264986	AG	A	ARSB	c.342del	NM_000046.5	NP_000037.2:p.(Trp115GlyfsTer19)	NC_000005.9:g.78264986del	(Likely) pathogenic	1 lab	68330c4f54
1:27877590 AHDC1 C>T	1	27877590	27877590	C	T	AHDC1	c.1037G>A	NM_001371928.1	NP_001358857.1:p.(Arg346His)	NC_000001.10:g.27877590C>T	(Likely) benign	1 lab	68351d81dc
19:5714216 LONP1 C>T	19	5714216	5714216	C	T	LONP1	c.496G>A	NM_004793.4	NP_004784.2:p.(Val166Ile)	NC_000019.9:g.5714216C>T	(Likely) benign	1 lab	6835878a19
15:99434884 IGF1R G>A	15	99434884	99434884	G	A	IGF1R	c.953+18G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99434884G>A	(Likely) benign	1 lab	68368efd50
19:39993470 DLL3 T>A	19	39993470	39993470	T	A	DLL3	c.425T>A	NM_203486.3	NP_982353.1:p.(Leu142Gln)	NC_000019.9:g.39993470T>A	(Likely) benign	1 lab	6836f9264c
6:118790470 CEP85L C>T	6	118790470	118790470	C	T	CEP85L	c.2023-4G>A	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118790470C>T	(Likely) benign	1 lab	6838e5419c
17:75489093 SEPTIN9 A>C	17	75489093	75489093	A	C	SEPTIN9	c.1508A>C	NM_001113491.2	NP_001106963.1:p.(Asp503Ala)	NC_000017.10:g.75489093A>C	VUS	1 lab	683accb757
7:117431475 CTTNBP2 G>A	7	117431475	117431475	G	A	CTTNBP2	c.1775C>T	NM_033427.3	NP_219499.1:p.(Pro592Leu)	NC_000007.13:g.117431475G>A	VUS	1 lab	683c8e693a
10:120928749 PRDX3 G>C	10	120928749	120928749	G	C	PRDX3	c.657C>G	NM_006793.5	NP_006784.1:p.(Phe219Leu)	NC_000010.10:g.120928749G>C	VUS	1 lab	683c91655a
19:42861138 MEGF8 G>T	19	42861138	42861138	G	T	MEGF8	c.4830+5G>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42861138G>T	(Likely) benign	1 lab	683ea0da17
3:36545905 STAC G>A	3	36545905	36545905	G	A	STAC	c.787G>A	NM_003149.3	NP_003140.1:p.(Gly263Ser)	NC_000003.11:g.36545905G>A	VUS	1 lab	683ebabd21
9:124080744 GSN C>A	9	124080744	124080744	C	A	GSN	c.947C>A	NM_198252.3	NP_937895.1:p.(Thr316Asn)	NC_000009.11:g.124080744C>A	(Likely) benign	1 lab	68410e01a1
8:119123281 EXT1 T>C	8	119123281	119123281	T	C	EXT1	c.5A>G	NM_000127.3	NP_000118.2:p.(Gln2Arg)	NC_000008.10:g.119123281T>C	VUS	1 lab	684136c9a5
13:100634625 ZIC2 G>A	13	100634625	100634625	G	A	ZIC2	c.307G>A	NM_007129.5	NP_009060.2:p.(Ala103Thr)	NC_000013.10:g.100634625G>A	(Likely) benign	1 lab	684139b15d
20:62309525 RTEL1 C>T	20	62309525	62309525	C	T	RTEL1	c.947C>T	NM_001283009.2	NP_001269938.1:p.(Ala316Val)	NC_000020.10:g.62309525C>T	(Likely) benign	1 lab	6843985184
2:166897850 SCN1A A>G	2	166897850	166897850	A	G	SCN1A	c.2306T>C	NM_001165963.4	NP_001159435.1:p.(Phe769Ser)	NC_000002.11:g.166897850A>G	VUS	1 lab	68445a762b
15:33952554 RYR3 C>T	15	33952554	33952554	C	T	RYR3	c.4552C>T	NM_001036.6	NP_001027.3:p.(Arg1518Cys)	NC_000015.9:g.33952554C>T	(Likely) benign	1 lab	684550285d
10:81057418 ZMIZ1 A>G	10	81057418	81057418	A	G	ZMIZ1	c.1462A>G	NM_020338.4	NP_065071.1:p.(Ser488Gly)	NC_000010.10:g.81057418A>G	(Likely) benign	1 lab	68481bf287
5:38482055 LIFR G>A	5	38482055	38482055	G	A	LIFR	c.2936C>T	NM_001127671.2	NP_001121143.1:p.(Ser979Leu)	NC_000005.9:g.38482055G>A	VUS	1 lab	6848df116a
5:137897264 HSPA9 C>T	5	137897264	137897264	C	T	HSPA9	c.1182+5G>A	NM_004134.7	NP_004125.3:p.?	NC_000005.9:g.137897264C>T	VUS	1 lab	6848f1fac5
20:49197955 PTPN1 C>T	20	49197955	49197955	C	T	PTPN1	c.1242C>T	NM_002827.4	NP_002818.1:p.(Cys414=)	NC_000020.10:g.49197955C>T	(Likely) benign	1 lab	684a0088a8
19:4054509 ZBTB7A G>A	19	4054509	4054509	G	A	ZBTB7A	c.722C>T	NM_015898.4	NP_056982.1:p.(Pro241Leu)	NC_000019.9:g.4054509G>A	(Likely) benign	1 lab	684ae2919e
3:12458275 PPARG CT>C	3	12458275	12458276	CT	C	PPARG	c.803del	NM_138711.6	NP_619725.3:p.(Leu268ArgfsTer38)	NC_000003.11:g.12458276del	(Likely) pathogenic	1 lab	684c80bd66
X:153296159 MECP2 C>CT	X	153296159	153296160	C	CT	MECP2	c.1155dup	NM_001110792.2	NP_001104262.1:p.(Glu386ArgfsTer19)	NC_000023.10:g.153296160dup	(Likely) pathogenic	1 lab	684cac5e44
7:143027882 CLCN1 G>A	7	143027882	143027882	G	A	CLCN1	c.871G>A	NM_000083.3	NP_000074.3:p.(Glu291Lys)	NC_000007.13:g.143027882G>A	(Likely) pathogenic	1 lab	684d3ef508
5:58270667 PDE4D T>C	5	58270667	58270667	T	C	PDE4D	c.2254A>G	NM_001104631.2	NP_001098101.1:p.(Ser752Gly)	NC_000005.9:g.58270667T>C	(Likely) benign	1 lab	684d70cad4
7:138444537 ATP6V0A4 T>C	7	138444537	138444537	T	C	ATP6V0A4	c.599A>G	NM_020632.3	NP_065683.2:p.(Lys200Arg)	NC_000007.13:g.138444537T>C	VUS	1 lab	684de07ada
2:179429050 TTN A>G	2	179429050	179429050	A	G	TTN	c.81809T>C	NM_001267550.2	NP_001254479.2:p.(Ile27270Thr)	NC_000002.11:g.179429050A>G	VUS	1 lab	685158767a
2:182542672 NEUROD1 C>T	2	182542672	182542672	C	T	NEUROD1	c.916G>A	NM_002500.5	NP_002491.3:p.(Ala306Thr)	NC_000002.11:g.182542672C>T	VUS	1 lab	68517d9f69
6:157468744 ARID1B C>A	6	157468744	157468744	C	A	ARID1B	c.2762-1014C>A	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157468744C>A	(Likely) benign	1 lab	685243f6bb
1:152082257 TCHH C>G	1	152082257	152082257	C	G	TCHH	c.3436G>C	NM_007113.4	NP_009044.2:p.(Val1146Leu)	NC_000001.10:g.152082257C>G	VUS	1 lab	6852fb0a11
6:143094420 HIVEP2 C>T	6	143094420	143094420	C	T	HIVEP2	c.1456G>A	NM_006734.4	NP_006725.3:p.(Asp486Asn)	NC_000006.11:g.143094420C>T	(Likely) benign	1 lab	6853316aa5
11:105732774 GRIA4 T>C	11	105732774	105732774	T	C	GRIA4	c.512T>C	NM_000829.4	NP_000820.4:p.(Met171Thr)	NC_000011.9:g.105732774T>C	(Likely) benign	1 lab	68544a916d
X:133700165 PLAC1 G>A	X	133700165	133700165	G	A	PLAC1	c.548C>T	NM_021796.4	NP_068568.1:p.(Ala183Val)	NC_000023.10:g.133700165G>A	(Likely) benign	1 lab	6854a9899d
19:42837852 MEGF8 C>T	19	42837852	42837852	C	T	MEGF8	c.283C>T	NM_001271938.2	NP_001258867.1:p.(Arg95Ter)	NC_000019.9:g.42837852C>T	VUS	1 lab	6856c59a68
21:35172141 ITSN1 G>A	21	35172141	35172141	G	A	ITSN1	c.2212G>A	NM_003024.3	NP_003015.2:p.(Glu738Lys)	NC_000021.8:g.35172141G>A	VUS	1 lab	68585bfc77
12:115112599 TBX3 T>C	12	115112599	115112599	T	C	TBX3	c.1081A>G	NM_005996.4	NP_005987.3:p.(Ser361Gly)	NC_000012.11:g.115112599T>C	VUS	1 lab	6858c59afa
1:89477429 GBP3 C>T	1	89477429	89477429	C	T	GBP3	c.1149+1G>A	NM_018284.3	NP_060754.2:p.?	NC_000001.10:g.89477429C>T	VUS	1 lab	68591ae82e
6:51524008 PKHD1 G>T	6	51524008	51524008	G	T	PKHD1	c.10916C>A	NM_138694.4	NP_619639.3:p.(Pro3639His)	NC_000006.11:g.51524008G>T	VUS	1 lab	685cb31c31
6:10415167 TFAP2A C>G	6	10415167	10415167	C	G	TFAP2A	c.51+7G>C	NM_001372066.1	NP_001358995.1:p.?	NC_000006.11:g.10415167C>G	(Likely) benign	1 lab	685cd467a8
9:131396036 DYNC2I2 T>G	9	131396036	131396036	T	G	DYNC2I2	c.1598A>C	NM_052844.4	NP_443076.2:p.(Glu533Ala)	NC_000009.11:g.131396036T>G	VUS	1 lab	685e734063
5:37046310 NIPBL A>T	5	37046310	37046310	A	T	NIPBL	c.6589+9A>T	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37046310A>T	(Likely) benign	1 lab	685e7985dc
2:119739941 MARCO G>T	2	119739941	119739941	G	T	MARCO	c.1018G>T	NM_006770.4	NP_006761.1:p.(Gly340Trp)	NC_000002.11:g.119739941G>T	VUS	1 lab	6860f09c02
6:4069940 FAM217A T>C	6	4069940	4069940	T	C	FAM217A	c.517A>G	NM_173563.3	NP_775834.2:p.(Ile173Val)	NC_000006.11:g.4069940T>C	VUS	1 lab	686152adf9
10:95139654 MYOF G>A	10	95139654	95139654	G	A	MYOF	c.1967C>T	NM_013451.4	NP_038479.1:p.(Ala656Val)	NC_000010.10:g.95139654G>A	(Likely) benign	1 lab	6861a57cb0
19:55098667 LILRA2 G>C	19	55098667	55098667	G	C	LILRA2	c.1307-1G>C	NM_001130917.3	NP_001124389.2:p.?	NC_000019.9:g.55098667G>C	(Likely) benign	1 lab	6862d5ef27
18:42532178 SETBP1 A>G	18	42532178	42532178	A	G	SETBP1	c.2873A>G	NM_015559.3	NP_056374.2:p.(Glu958Gly)	NC_000018.9:g.42532178A>G	VUS	1 lab	68635a7feb
2:27532804 MPV17 CAGGT>C	2	27532804	27532811	CAGGT	C	MPV17	c.503_506del	NM_002437.5	NP_002428.1:p.(Tyr168CysfsTer49)	NC_000002.11:g.27532808_27532811del	VUS	1 lab	68653ccfbb
2:97877405 ANKRD36 G>A	2	97877405	97877405	G	A	ANKRD36	c.3397-1G>A	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97877405G>A	VUS	1 lab	68668d047d
11:64494835 RASGRP2 G>C	11	64494835	64494835	G	C	RASGRP2	c.1772-3C>G	NM_001098671.2	NP_001092141.1:p.?	NC_000011.9:g.64494835G>C	VUS	1 lab	686773c2c3
1:39790020 MACF1 G>C	1	39790020	39790020	G	C	MACF1	c.4389+3G>C	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39790020G>C	VUS	1 lab	68683acb5d
7:56082838 PSPH G>A	7	56082838	56082838	G	A	PSPH	c.448C>T	NM_004577.4	NP_004568.2:p.(Gln150Ter)	NC_000007.13:g.56082838G>A	(Likely) pathogenic	1 lab	68692ef995
5:127419963 SLC12A2 C>A	5	127419963	127419963	C	A	SLC12A2	c.317C>A	NM_001046.3	NP_001037.1:p.(Ala106Glu)	NC_000005.9:g.127419963C>A	VUS	1 lab	6869df29cc
1:152284665 FLG C>CTTG	1	152284665	152284667	C	CTTG	FLG	c.2696_2697insCAA	NM_002016.2	NP_002007.1:p.(Glu899delinsAspLys)	NC_000001.10:g.152284666_152284667insTGT	(Likely) benign	1 lab	6869f81fe6
22:46931462 CELSR1 C>T	22	46931462	46931462	C	T	CELSR1	c.1606G>A	NM_001378328.1	NP_001365257.1:p.(Ala536Thr)	NC_000022.10:g.46931462C>T	VUS	1 lab	686b2f1839
9:35685065 TPM2 T>C	9	35685065	35685065	T	C	TPM2	c.563+201A>G	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35685065T>C	VUS	1 lab	686d202e37
9:135946822 CEL GC>G	9	135946822	135946830	GC	G	CEL	c.1941del	NM_001807.6	NP_001798.3:p.(Val648CysfsTer56)	NC_000009.11:g.135946830del	VUS	1 lab	686fea82a0
9:126136165 CRB2 CGCTGCCCGCCTGGCTTCG>C	9	126136165	126136184	CGCTGCCCGCCTGGCTTCG	C	CRB2	c.3357_3374del	NM_173689.7	NP_775960.4:p.(Cys1120_Gly1125del)	NC_000009.11:g.126136167_126136184del	VUS	1 lab	68709c74a0
X:2878455 ARSL C>G	X	2878455	2878455	C	G	ARSL	c.-14G>C	NM_000047.3	NP_000038.2:p.?	NC_000023.10:g.2878455C>G	VUS	1 lab	687128fd61
11:46332654 CREB3L1 C>T	11	46332654	46332654	C	T	CREB3L1	c.667C>T	NM_052854.4	NP_443086.1:p.(Arg223Cys)	NC_000011.9:g.46332654C>T	VUS	1 lab	6871e09fc6
1:212911802 NSL1 G>A	1	212911802	212911802	G	A	NSL1	c.794C>T	NM_015471.4	NP_056286.3:p.(Pro265Leu)	NC_000001.10:g.212911802G>A	(Likely) benign	1 lab	68721043e3
21:45705955 AIRE G>T	21	45705955	45705955	G	T	AIRE				NC_000021.8:g.45705955G>T	(Likely) benign	1 lab	2356635a6d
15:75501072 C15orf39 C>T	15	75501072	75501072	C	T	C15orf39	c.2683C>T	NM_015492.5	NP_056307.3:p.(Arg895Cys)	NC_000015.9:g.75501072C>T	VUS	1 lab	6873ad8974
9:140446891 MRPL41 G>C	9	140446891	140446891	G	C	MRPL41	c.358G>C	NM_032477.3	NP_115866.1:p.(Glu120Gln)	NC_000009.11:g.140446891G>C	VUS	1 lab	68756ca5d3
7:47925618 PKD1L1 C>T	7	47925618	47925618	C	T	PKD1L1	c.2871G>A	NM_138295.5	NP_612152.1:p.(Ser957=)	NC_000007.13:g.47925618C>T	VUS	1 lab	68764d62fb
4:106162922 TET2 A>G	4	106162922	106162922	A	G	TET2	c.3500+336A>G	NM_001127208.3	NP_001120680.1:p.?	NC_000004.11:g.106162922A>G	(Likely) benign	1 lab	6877686583
12:57032900 ATP5F1B C>A	12	57032900	57032900	C	A	ATP5F1B	c.1479G>T	NM_001686.4	NP_001677.2:p.(Gln493His)	NC_000012.11:g.57032900C>A	(Likely) benign	1 lab	6878847452
1:16258607 SPEN C>T	1	16258607	16258607	C	T	SPEN	c.5872C>T	NM_015001.3	NP_055816.2:p.(Arg1958Trp)	NC_000001.10:g.16258607C>T	(Likely) benign	1 lab	68794bcd50
14:64586245 SYNE2 C>T	14	64586245	64586245	C	T	SYNE2	c.12941C>T	NM_182914.3	NP_878918.2:p.(Ala4314Val)	NC_000014.8:g.64586245C>T	(Likely) benign	1 lab	687a6f82d2
13:49037871 RB1 T>G	13	49037871	49037871	T	G	RB1	c.2111T>G	NM_000321.3	NP_000312.2:p.(Met704Arg)	NC_000013.10:g.49037871T>G	(Likely) pathogenic	1 lab	2204d73d98
10:103530096 FGF8 T>C	10	103530096	103530096	T	C	FGF8	c.725A>G	NM_033163.5	NP_149353.1:p.(Glu242Gly)	NC_000010.10:g.103530096T>C	VUS	1 lab	687c050596
18:72997863 TSHZ1 CACTGG>C	18	72997863	72997868	CACTGG	C	TSHZ1	c.502_506del	NM_001308210.2	NP_001295139.1:p.(Thr168ProfsTer50)	NC_000018.9:g.72997864_72997868del	(Likely) benign	1 lab	687c5737db
11:17482100 ABCC8 C>T	11	17482100	17482100	C	T	ABCC8	c.946G>A	NM_000352.6	NP_000343.2:p.(Gly316Arg)	NC_000011.9:g.17482100C>T	VUS	1 lab	687d47c2bc
20:40033269 CHD6 C>A	20	40033269	40033269	C	A	CHD6	c.8112G>T	NM_032221.5	NP_115597.3:p.(Glu2704Asp)	NC_000020.10:g.40033269C>A	(Likely) benign	1 lab	687e186c53
4:73156777 ADAMTS3 C>T	4	73156777	73156777	C	T	ADAMTS3	c.2726G>A	NM_014243.3	NP_055058.2:p.(Trp909Ter)	NC_000004.11:g.73156777C>T	VUS	1 lab	687e42d41a
15:89392914 ACAN A>G	15	89392914	89392914	A	G	ACAN	c.1978A>G	NM_001369268.1	NP_001356197.1:p.(Thr660Ala)	NC_000015.9:g.89392914A>G	VUS	1 lab	687e865625
16:88876299 APRT G>A	16	88876299	88876299	G	A	APRT	c.401-51C>T	NM_000485.3	NP_000476.1:p.?	NC_000016.9:g.88876299G>A	(Likely) benign	1 lab	2355c76311
22:41573240 EP300 G>C	22	41573240	41573240	G	C	EP300	c.5525G>C	NM_001429.4	NP_001420.2:p.(Gly1842Ala)	NC_000022.10:g.41573240G>C	VUS	1 lab	68819cca5f
15:99478097 IGF1R A>G	15	99478097	99478097	A	G	IGF1R	c.3001A>G	NM_000875.5	NP_000866.1:p.(Met1001Val)	NC_000015.9:g.99478097A>G	VUS	1 lab	6882d73f52
7:27239081 HOXA13 A>AGGC	7	27239081	27239099	A	AGGC	HOXA13	c.613_615dup	NM_000522.5	NP_000513.2:p.(Ala205dup)	NC_000007.13:g.27239097_27239099dup	(Likely) benign	1 lab	6883969ef9
8:100844636 VPS13B C>T	8	100844636	100844636	C	T	VPS13B	c.9370C>T	NM_152564.5	NP_689777.3:p.(Pro3124Ser)	NC_000008.10:g.100844636C>T	(Likely) benign	1 lab	6883b96656
2:149226918 MBD5 A>T	2	149226918	149226918	A	T	MBD5	c.1406A>T	NM_001378120.1	NP_001365049.1:p.(His469Leu)	NC_000002.11:g.149226918A>T	VUS	1 lab	6883dcd7fa
7:151949737 KMT2C T>G	7	151949737	151949737	T	G	KMT2C	c.1363A>C	NM_170606.3	NP_733751.2:p.(Ile455Leu)	NC_000007.13:g.151949737T>G	(Likely) benign	1 lab	6887155b7c
18:77440227 CTDP1 C>A	18	77440227	77440227	C	A	CTDP1	c.280C>A	NM_004715.5	NP_004706.3:p.(Leu94Met)	NC_000018.9:g.77440227C>A	VUS	1 lab	688740de61
12:23687370 SOX5 G>A	12	23687370	23687370	G	A	SOX5	c.2075C>T	NM_006940.6	NP_008871.3:p.(Pro692Leu)	NC_000012.11:g.23687370G>A	VUS	1 lab	688741ab0e
9:131295851 GLE1 C>T	9	131295851	131295851	C	T	GLE1	c.1372C>T	NM_001003722.2	NP_001003722.1:p.(Gln458Ter)	NC_000009.11:g.131295851C>T	(Likely) pathogenic	1 lab	688881c4a6
X:153296119 MECP2 G>A	X	153296119	153296119	G	A	MECP2	c.1196C>T	NM_001110792.2	NP_001104262.1:p.(Pro399Leu)	NC_000023.10:g.153296119G>A	(Likely) benign	1 lab	6888f1fc23
11:89135592 NOX4 G>T	11	89135592	89135592	G	T	NOX4	c.748C>A	NM_016931.5	NP_058627.2:p.(Pro250Thr)	NC_000011.9:g.89135592G>T	(Likely) benign	1 lab	6889f68bac
5:176024267 GPRIN1 C>T	5	176024267	176024267	C	T	GPRIN1	c.2569G>A	NM_052899.3	NP_443131.2:p.(Ala857Thr)	NC_000005.9:g.176024267C>T	VUS	1 lab	688a55f662
16:223539 HBA2 C>G	16	223539	223539	C	G	HBA2	c.369C>G	NM_000517.6	NP_000508.1:p.(His123Gln)	NC_000016.9:g.223539C>G	(Likely) pathogenic	1 lab	689ae29bfd
2:100210337 AFF3 CTGAGG>C	2	100210337	100210343	CTGAGG	C	AFF3	c.1781_1785del	NM_001386135.1	NP_001373064.1:p.(Thr594SerfsTer72)	NC_000002.11:g.100210339_100210343del	(Likely) benign	1 lab	688faf1397
7:150706632 NOS3 C>T	7	150706632	150706632	C	T	NOS3	c.2471C>T	NM_000603.5	NP_000594.2:p.(Thr824Ile)	NC_000007.13:g.150706632C>T	VUS	1 lab	688fb2f0b7
X:77034526 ATRX G>A	X	77034526	77034526	G	A	ATRX	c.20+6942C>T	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.77034526G>A	(Likely) benign	1 lab	688fb44506
9:135944506 CEL G>A	9	135944506	135944506	G	A	CEL	c.1146G>A	NM_001807.6	NP_001798.3:p.(Thr382=)	NC_000009.11:g.135944506G>A	(Likely) benign	1 lab	6891ba1d87
2:220333875 SPEG C>CA	2	220333875	220333876	C	CA	SPEG	c.3492-2dup	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220333876dup	VUS	1 lab	6891fa11e5
19:4099331 MAP2K2 C>T	19	4099331	4099331	C	T	MAP2K2	c.787G>A	NM_030662.4	NP_109587.1:p.(Gly263Arg)	NC_000019.9:g.4099331C>T	VUS	1 lab	69117b37ec
17:59479307 TBX2 G>A	17	59479307	59479307	G	A	TBX2	c.658G>A	NM_005994.4	NP_005985.3:p.(Gly220Ser)	NC_000017.10:g.59479307G>A	(Likely) benign	1 lab	68937c7a48
X:38176683 RPGR C>T	X	38176683	38176683	C	T	RPGR	c.505G>A	NM_001034853.2	NP_001030025.1:p.(Glu169Lys)	NC_000023.10:g.38176683C>T	VUS	1 lab	689465d1ed
8:41834771 KAT6A T>C	8	41834771	41834771	T	C	KAT6A	c.1118A>G	NM_006766.5	NP_006757.2:p.(Gln373Arg)	NC_000008.10:g.41834771T>C	VUS	1 lab	689489ac5b
18:28926057 DSG1 C>G	18	28926057	28926057	C	G	DSG1	c.1996C>G	NM_001942.4	NP_001933.2:p.(Pro666Ala)	NC_000018.9:g.28926057C>G	(Likely) benign	1 lab	6895b3df0c
17:78082335 GAA C>T	17	78082335	78082335	C	T	GAA	c.1123C>T	NM_000152.5	NP_000143.2:p.(Arg375Cys)	NC_000017.10:g.78082335C>T	VUS	1 lab	68976add72
X:68060340 EFNB1 C>T	X	68060340	68060340	C	T	EFNB1	c.884C>T	NM_004429.5	NP_004420.1:p.(Ala295Val)	NC_000023.10:g.68060340C>T	(Likely) benign	1 lab	6897a31938
18:19379811 MIB1 C>G	18	19379811	19379811	C	G	MIB1	c.1247C>G	NM_020774.4	NP_065825.1:p.(Ser416Ter)	NC_000018.9:g.19379811C>G	VUS	1 lab	6898401c63
6:80626456 ELOVL4 C>G	6	80626456	80626456	C	G	ELOVL4	c.814G>C	NM_022726.4	NP_073563.1:p.(Glu272Gln)	NC_000006.11:g.80626456C>G	(Likely) benign	1 lab	689979662a
3:58149034 FLNB C>T	3	58149034	58149034	C	T	FLNB	c.7175C>T	NM_001457.4	NP_001448.2:p.(Thr2392Met)	NC_000003.11:g.58149034C>T	VUS	1 lab	6899afc2bf
9:140852115 CACNA1B C>T	9	140852115	140852115	C	T	CACNA1B	c.1309C>T	NM_000718.4	NP_000709.1:p.(Arg437Trp)	NC_000009.11:g.140852115C>T	VUS	1 lab	6899b2d898
11:73748631 C2CD3 T>C	11	73748631	73748631	T	C	C2CD3	c.5773A>G	NM_001286577.2	NP_001273506.1:p.(Ser1925Gly)	NC_000011.9:g.73748631T>C	(Likely) benign	1 lab	689a591971
4:6302699 WFS1 G>T	4	6302699	6302699	G	T	WFS1	c.1177G>T	NM_006005.3	NP_005996.2:p.(Ala393Ser)	NC_000004.11:g.6302699G>T	VUS	1 lab	689b44317c
16:70721875 VAC14 G>A	16	70721875	70721875	G	A	VAC14	c.2305C>T	NM_018052.5	NP_060522.3:p.(Arg769Trp)	NC_000016.9:g.70721875G>A	VUS	1 lab	689bd4b269
8:62596612 ASPH T>C	8	62596612	62596612	T	C	ASPH	c.239A>G	NM_004318.4	NP_004309.2:p.(Tyr80Cys)	NC_000008.10:g.62596612T>C	VUS	1 lab	689c4941e2
4:74008026 ANKRD17 T>C	4	74008026	74008026	T	C	ANKRD17	c.2162A>G	NM_032217.5	NP_115593.3:p.(Asn721Ser)	NC_000004.11:g.74008026T>C	VUS	1 lab	689d96249e
2:74701836 CCDC142 G>A	2	74701836	74701836	G	A	CCDC142	c.2090C>T	NM_001365575.2	NP_001352504.1:p.(Pro697Leu)	NC_000002.11:g.74701836G>A	(Likely) benign	1 lab	68a511b914
6:129785554 LAMA2 T>C	6	129785554	129785554	T	C	LAMA2	c.7112T>C	NM_000426.4	NP_000417.3:p.(Phe2371Ser)	NC_000006.11:g.129785554T>C	VUS	1 lab	68a525f6af
10:119014813 SLC18A2 CTA>C	10	119014813	119014816	CTA	C	SLC18A2	c.728_729del	NM_003054.6	NP_003045.2:p.(Tyr243Ter)	NC_000010.10:g.119014815_119014816del	VUS	1 lab	68a6c75230
10:94392336 KIF11 G>A	10	94392336	94392336	G	A	KIF11	c.1588G>A	NM_004523.4	NP_004514.2:p.(Ala530Thr)	NC_000010.10:g.94392336G>A	VUS	1 lab	68a712d6d4
18:19752089 GATA6 C>T	18	19752089	19752089	C	T	GATA6	c.984C>T	NM_005257.6	NP_005248.2:p.(His328=)	NC_000018.9:g.19752089C>T	(Likely) benign	1 lab	68a7553527
1:113616171 LRIG2 C>T	1	113616171	113616171	C	T	LRIG2	c.143C>T	NM_014813.3	NP_055628.1:p.(Ser48Phe)	NC_000001.10:g.113616171C>T	VUS	1 lab	68ab65cea7
15:91420189 FURIN G>A	15	91420189	91420189	G	A	FURIN	c.436G>A	NM_002569.4	NP_002560.1:p.(Gly146Ser)	NC_000015.9:g.91420189G>A	VUS	1 lab	68ac9f3e4f
X:49851084 CLCN5 C>T	X	49851084	49851084	C	T	CLCN5	c.1114C>T	NM_001127898.4	NP_001121370.1:p.(Arg372Cys)	NC_000023.10:g.49851084C>T	VUS	1 lab	68ae856f44
X:50051932 CCNB3 A>G	X	50051932	50051932	A	G	CCNB3	c.763A>G	NM_033031.3	NP_149020.2:p.(Asn255Asp)	NC_000023.10:g.50051932A>G	(Likely) benign	1 lab	68aee03dcf
14:20854669 TEP1 C>T	14	20854669	20854669	C	T	TEP1	c.2798G>A	NM_007110.5	NP_009041.2:p.(Arg933His)	NC_000014.8:g.20854669C>T	(Likely) benign	1 lab	68af45e943
12:52309162 ACVRL1 G>T	12	52309162	52309162	G	T	ACVRL1	c.926G>T	NM_000020.2	NP_000011.2:p.(Gly309Val)	NC_000012.11:g.52309162G>T	VUS	1 lab	2360eb80e3
19:625254 POLRMT C>G	19	625254	625254	C	G	POLRMT	c.823G>C	NM_005035.4	NP_005026.3:p.(Gly275Arg)	NC_000019.9:g.625254C>G	VUS	1 lab	68b0ba6314
X:153219655 HCFC1 C>T	X	153219655	153219655	C	T	HCFC1	c.4195G>A	NM_005334.3	NP_005325.2:p.(Val1399Ile)	NC_000023.10:g.153219655C>T	VUS	1 lab	68b664c511
7:142563278 EPHB6 C>T	7	142563278	142563278	C	T	EPHB6	c.998C>T	NM_004445.6	NP_004436.4:p.(Ser333Leu)	NC_000007.13:g.142563278C>T	(Likely) benign	1 lab	68b6bef667
11:102985981 DYNC2H1 A>G	11	102985981	102985981	A	G	DYNC2H1	c.578A>G	NM_001377.3	NP_001368.2:p.(Glu193Gly)	NC_000011.9:g.102985981A>G	(Likely) benign	1 lab	68b6f427a7
18:19751946 GATA6 G>T	18	19751946	19751946	G	T	GATA6	c.841G>T	NM_005257.6	NP_005248.2:p.(Gly281Cys)	NC_000018.9:g.19751946G>T	VUS	1 lab	68b82240b1
15:76641079 SCAPER TGA>T	15	76641079	76641084	TGA	T	SCAPER	c.4100-4_4100-3del	NM_020843.4	NP_065894.2:p.?	NC_000015.9:g.76641083_76641084del	(Likely) benign	1 lab	68b8b5bc8c
21:43164137 RIPK4 C>A	21	43164137	43164137	C	A	RIPK4	c.1100G>T	NM_020639.3	NP_065690.2:p.(Ser367Ile)	NC_000021.8:g.43164137C>A	(Likely) benign	1 lab	68ba50d2f1
3:49152255 USP19 TGAAA>T	3	49152255	49152261	TGAAA	T	USP19	c.2229_2232del	NM_001199161.2	NP_001186090.1:p.(Phe744SerfsTer60)	NC_000003.11:g.49152258_49152261del	VUS	1 lab	68baa40cf8
17:42332658 SLC4A1 G>A	17	42332658	42332658	G	A	SLC4A1	c.1807C>T	NM_000342.4	NP_000333.1:p.(Arg603Trp)	NC_000017.10:g.42332658G>A	VUS	1 lab	68bab4bd63
7:117199587 CFTR ATTTCATTCTGTTC>A	7	117199587	117199601	ATTTCATTCTGTTC	A	CFTR	c.1464_1476del	NM_000492.4	NP_000483.3:p.(Cys491ProfsTer32)	NC_000007.13:g.117199589_117199601del	(Likely) pathogenic	1 lab	220943e3a0
11:60702039 TMEM132A G>A	11	60702039	60702039	G	A	TMEM132A	c.1639G>A	NM_178031.3	NP_821174.1:p.(Gly547Ser)	NC_000011.9:g.60702039G>A	(Likely) benign	1 lab	68bc8b3fd5
5:172660056 NKX2-5 G>T	5	172660056	172660056	G	T	NKX2-5	c.491C>A	NM_004387.4	NP_004378.1:p.(Ser164Ter)	NC_000005.9:g.172660056G>T	(Likely) pathogenic	1 lab	236323f3ee
11:17418602 ABCC8 C>T	11	17418602	17418602	C	T	ABCC8	c.3989-9G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17418602C>T	VUS	1 lab	68c2c886d8
19:41937777 DMAC2 T>C	19	41937777	41937777	T	C	DMAC2	c.*359A>G	NM_018035.3	NP_060505.2:p.?	NC_000019.9:g.41937777T>C	VUS	1 lab	68c3d1b56d
21:47551990 COL6A2 C>T	21	47551990	47551990	C	T	COL6A2	c.2584C>T	NM_001849.4	NP_001840.3:p.(Arg862Trp)	NC_000021.8:g.47551990C>T	VUS	1 lab	68c3e4a5c1
5:134364626 PITX1 G>C	5	134364626	134364626	G	C	PITX1	c.788C>G	NM_002653.5	NP_002644.4:p.(Pro263Arg)	NC_000005.9:g.134364626G>C	VUS	1 lab	68c40f1492
4:1795619 FGFR3 C>T	4	1795619	1795619	C	T	FGFR3	c.-43C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795619C>T	VUS	1 lab	68c4c72285
2:202412228 CATSPERT C>T	2	202412228	202412228	C	T	CATSPERT	c.1083G>A	NM_001168221.2	NP_001161693.1:p.(Glu361=)	NC_000002.11:g.202412228C>T	VUS	1 lab	68c567f1a7
12:56487549 ERBB3 G>A	12	56487549	56487549	G	A	ERBB3	c.1482G>A	NM_001982.4	NP_001973.2:p.(Val494=)	NC_000012.11:g.56487549G>A	VUS	1 lab	68c6b9d898
15:28377974 HERC2 G>A	15	28377974	28377974	G	A	HERC2	c.12233C>T	NM_004667.6	NP_004658.3:p.(Pro4078Leu)	NC_000015.9:g.28377974G>A	VUS	1 lab	68c6f26783
7:31016139 GHRHR G>A	7	31016139	31016139	G	A	GHRHR	c.1070G>A	NM_000823.4	NP_000814.2:p.(Arg357His)	NC_000007.13:g.31016139G>A	VUS	1 lab	68c6fca94a
17:18024948 MYO15A G>A	17	18024948	18024948	G	A	MYO15A	c.2834G>A	NM_016239.4	NP_057323.3:p.(Gly945Glu)	NC_000017.10:g.18024948G>A	(Likely) benign	1 lab	68c74c1268
9:135946957 CEL CCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCG>C	9	135946957	135947060	CCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C	CEL	c.2106_2171del	NM_001807.6	NP_001798.3:p.(Thr704_Val725del)	NC_000009.11:g.135946995_135947060del	(Likely) benign	1 lab	68c793f1e8
19:13318726 CACNA1A C>T	19	13318726	13318726	C	T	CACNA1A	c.6922G>A	NM_001127222.2	NP_001120694.1:p.(Gly2308Ser)	NC_000019.9:g.13318726C>T	(Likely) benign	1 lab	68c8a7d2ae
Y:14969549 USP9Y C>G	Y	14969549	14969549	C	G	USP9Y	c.7493C>G	NM_004654.4	NP_004645.2:p.(Pro2498Arg)	NC_000024.9:g.14969549C>G	VUS	1 lab	68c970905e
13:101844409 NALCN A>C	13	101844409	101844409	A	C	NALCN	c.1627-4T>G	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101844409A>C	(Likely) benign	1 lab	68c9ca603e
19:36134257 ETV2 C>T	19	36134257	36134257	C	T	ETV2	c.317C>T	NM_014209.4	NP_055024.2:p.(Ser106Leu)	NC_000019.9:g.36134257C>T	(Likely) benign	1 lab	68ca02e2a9
21:32639222 TIAM1 G>A	21	32639222	32639222	G	A	TIAM1	c.67C>T	NM_001353694.2	NP_001340623.1:p.(Arg23Cys)	NC_000021.8:g.32639222G>A	VUS	1 lab	68ca2d3c9f
2:228115908 COL4A3 C>T	2	228115908	228115908	C	T	COL4A3	c.599C>T	NM_000091.5	NP_000082.2:p.(Pro200Leu)	NC_000002.11:g.228115908C>T	(Likely) benign	1 lab	68ca587ce0
1:154548314 CHRNB2 T>C	1	154548314	154548314	T	C	CHRNB2	c.1415T>C	NM_000748.3	NP_000739.1:p.(Phe472Ser)	NC_000001.10:g.154548314T>C	(Likely) benign	1 lab	68cbfa65cc
14:24709617 TINF2 CCACT>C	14	24709617	24709626	CCACT	C	TINF2	c.1061+4_1061+7del	NM_001099274.3	NP_001092744.1:p.?	NC_000014.8:g.24709623_24709626del	VUS	1 lab	220c85fcca
X:64958893 MSN CAC>GT	X	64958893	64958895	CAC	GT	MSN	c.1406_1408delinsGT	NM_002444.3	NP_002435.1:p.(Thr469SerfsTer54)	NC_000023.10:g.64958893_64958895delinsGT	VUS	1 lab	68cfc4ac8f
2:242695360 D2HGDH G>A	2	242695360	242695360	G	A	D2HGDH	c.1237G>A	NM_152783.5	NP_689996.4:p.(Asp413Asn)	NC_000002.11:g.242695360G>A	VUS	1 lab	68d136e976
20:62069865 KCNQ2 G>A	20	62069865	62069865	G	A	KCNQ2	c.1023+113C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62069865G>A	(Likely) benign	1 lab	23635b54d2
12:8757429 AICDA A>C	12	8757429	8757429	A	C	AICDA	c.517T>G	NM_020661.2	NP_065712.1:p.(Ser173Ala)	NC_000012.11:g.8757429A>C	(Likely) benign	1 lab	23635c75a0
6:90356281 MDN1 C>G	6	90356281	90356281	C	G	MDN1	c.16437G>C	NM_014611.3	NP_055426.1:p.(Gln5479His)	NC_000006.11:g.90356281C>G	(Likely) benign	1 lab	68d4d16055
3:136338615 STAG1 A>AG	3	136338615	136338616	A	AG	STAG1	c.132+3372_132+3373insC	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136338615_136338616insG	(Likely) benign	1 lab	68d64739ea
17:60689901 TLK2 C>T	17	60689901	60689901	C	T	TLK2	c.2228C>T	NM_006852.6	NP_006843.2:p.(Ala743Val)	NC_000017.10:g.60689901C>T	VUS	1 lab	68db4595e3
5:98228256 CHD1 A>G	5	98228256	98228256	A	G	CHD1	c.2153T>C	NM_001270.4	NP_001261.2:p.(Met718Thr)	NC_000005.9:g.98228256A>G	VUS	1 lab	68dc579b5f
7:31011595 GHRHR G>A	7	31011595	31011595	G	A	GHRHR	c.482G>A	NM_000823.4	NP_000814.2:p.(Arg161Gln)	NC_000007.13:g.31011595G>A	VUS	1 lab	68dda27b92
2:238287801 COL6A3 G>A	2	238287801	238287801	G	A	COL6A3	c.1975C>T	NM_004369.4	NP_004360.2:p.(Arg659Cys)	NC_000002.11:g.238287801G>A	VUS	1 lab	68de06d87b
11:46342060 CREB3L1 A>C	11	46342060	46342060	A	C	CREB3L1	c.1504A>C	NM_052854.4	NP_443086.1:p.(Lys502Gln)	NC_000011.9:g.46342060A>C	(Likely) benign	1 lab	68de8a9b17
X:69385676 IGBP1 A>G	X	69385676	69385676	A	G	IGBP1	c.872-7A>G	NM_001551.3	NP_001542.1:p.?	NC_000023.10:g.69385676A>G	VUS	1 lab	68de9e7be3
19:18899132 COMP G>A	19	18899132	18899132	G	A	COMP	c.868-4C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899132G>A	(Likely) benign	1 lab	68df306e02
9:123857289 CNTRL A>T	9	123857289	123857289	A	T	CNTRL	c.472A>T	NM_007018.6	NP_008949.4:p.(Lys158Ter)	NC_000009.11:g.123857289A>T	VUS	1 lab	68df757da1
X:19984194 BCLAF3 A>G	X	19984194	19984194	A	G	BCLAF3	c.611+4T>C	NM_001367774.2	NP_001354703.1:p.?	NC_000023.10:g.19984194A>G	(Likely) benign	1 lab	68dfca3086
4:8603083 CPZ C>G	4	8603083	8603083	C	G	CPZ	c.355C>G	NM_001014447.3	NP_001014447.2:p.(Arg119Gly)	NC_000004.11:g.8603083C>G	VUS	1 lab	68e0d3bd26
22:50277564 ZBED4 C>T	22	50277564	50277564	C	T	ZBED4	c.254C>T	NM_014838.3	NP_055653.2:p.(Ala85Val)	NC_000022.10:g.50277564C>T	VUS	1 lab	68e0e3c1c2
12:133365864 GOLGA3 C>A	12	133365864	133365864	C	A	GOLGA3	c.2560G>T	NM_001389683.1	NP_001376612.1:p.(Ala854Ser)	NC_000012.11:g.133365864C>A	VUS	1 lab	68e0f86fad
16:89350330 ANKRD11 CCA>C	16	89350330	89350334	CCA	C	ANKRD11	c.2618_2619del	NM_013275.6	NP_037407.4:p.(Val873GlyfsTer42)	NC_000016.9:g.89350333_89350334del	(Likely) pathogenic	1 lab	68e22c6e49
10:31799769 ZEB1 G>A	10	31799769	31799769	G	A	ZEB1	c.653G>A	NM_001174096.2	NP_001167567.1:p.(Arg218His)	NC_000010.10:g.31799769G>A	VUS	1 lab	68e2bb7772
21:47692708 MCM3AP C>T	21	47692708	47692708	C	T	MCM3AP	c.2232G>A	NM_003906.5	NP_003897.2:p.(Thr744=)	NC_000021.8:g.47692708C>T	VUS	1 lab	68e35f5b37
11:4153511 RRM1 T>C	11	4153511	4153511	T	C	RRM1	c.1770-5T>C	NM_001033.5	NP_001024.1:p.?	NC_000011.9:g.4153511T>C	(Likely) benign	1 lab	68e4bd0351
11:17414660 ABCC8 T>A	11	17414660	17414660	T	A	ABCC8	c.4624A>T	NM_000352.6	NP_000343.2:p.(Ile1542Phe)	NC_000011.9:g.17414660T>A	VUS	1 lab	68e55b9ba5
10:73567375 CDH23 A>G	10	73567375	73567375	A	G	CDH23	c.8411A>G	NM_022124.6	NP_071407.4:p.(Lys2804Arg)	NC_000010.10:g.73567375A>G	VUS	1 lab	68e6f12b5a
17:7227169 NEURL4 C>T	17	7227169	7227169	C	T	NEURL4	c.2225G>A	NM_032442.3	NP_115818.2:p.(Arg742His)	NC_000017.10:g.7227169C>T	VUS	1 lab	68e7e67dcc
12:49445244 KMT2D G>A	12	49445244	49445244	G	A	KMT2D	c.2222C>T	NM_003482.4	NP_003473.3:p.(Pro741Leu)	NC_000012.11:g.49445244G>A	VUS	1 lab	68e8a3b8cb
19:13226238 TRMT1 G>A	19	13226238	13226238	G	A	TRMT1	c.496C>T	NM_001136035.4	NP_001129507.1:p.(Arg166Cys)	NC_000019.9:g.13226238G>A	VUS	1 lab	68e8b7421f
2:219209196 PNKD A>G	2	219209196	219209196	A	G	PNKD	c.887A>G	NM_015488.5	NP_056303.3:p.(Glu296Gly)	NC_000002.11:g.219209196A>G	VUS	1 lab	68ea42fc74
3:129294324 PLXND1 C>T	3	129294324	129294324	C	T	PLXND1	c.2518G>A	NM_015103.3	NP_055918.3:p.(Glu840Lys)	NC_000003.11:g.129294324C>T	(Likely) benign	1 lab	68eb638b42
19:22270958 ZNF257 T>C	19	22270958	22270958	T	C	ZNF257	c.406T>C	NM_033468.4	NP_258429.2:p.(Cys136Arg)	NC_000019.9:g.22270958T>C	(Likely) benign	1 lab	68ebc541d5
7:73638451 LAT2 G>A	7	73638451	73638451	G	A	LAT2	c.552G>A	NM_032464.3	NP_115853.2:p.(Pro184=)	NC_000007.13:g.73638451G>A	(Likely) benign	1 lab	68ed0d417b
X:91873255 PCDH11X C>T	X	91873255	91873255	C	T	PCDH11X	c.3368-8C>T	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91873255C>T	(Likely) benign	1 lab	68eeab3676
5:152873519 GRIA1 A>C	5	152873519	152873519	A	C	GRIA1	c.114A>C	NM_000827.4	NP_000818.2:p.(Glu38Asp)	NC_000005.9:g.152873519A>C	VUS	1 lab	68eec857d4
5:161277848 GABRA1 T>C	5	161277848	161277848	T	C	GABRA1	c.32T>C	NM_001127644.2	NP_001121116.1:p.(Leu11Pro)	NC_000005.9:g.161277848T>C	(Likely) benign	1 lab	68ef0655c2
4:6303168 WFS1 T>C	4	6303168	6303168	T	C	WFS1	c.1646T>C	NM_006005.3	NP_005996.2:p.(Leu549Pro)	NC_000004.11:g.6303168T>C	VUS	1 lab	68ef818ce8
12:6181579 VWF C>A	12	6181579	6181579	C	A	VWF	c.1027G>T	NM_000552.5	NP_000543.3:p.(Val343Leu)	NC_000012.11:g.6181579C>A	VUS	1 lab	68efd81e86
8:145736254 SLC33A2 C>T	8	145736254	145736254	C	T	SLC33A2	c.1033C>T	NM_138431.3	NP_612440.1:p.(Arg345Cys)	NC_000008.10:g.145736254C>T	VUS	1 lab	68efdbb9a8
2:219678798 CYP27A1 C>T	2	219678798	219678798	C	T	CYP27A1	c.1072C>T	NM_000784.4	NP_000775.1:p.(Gln358Ter)	NC_000002.11:g.219678798C>T	(Likely) pathogenic	1 lab	68f2f6047a
8:61655276 CHD7 A>C	8	61655276	61655276	A	C	CHD7	c.1285A>C	NM_017780.4	NP_060250.2:p.(Asn429His)	NC_000008.10:g.61655276A>C	(Likely) benign	1 lab	68f483d42f
16:1823120 EME2 T>A	16	1823120	1823120	T	A	EME2	c.-109T>A	NM_001257370.2	NP_001244299.1:p.?	NC_000016.9:g.1823120T>A	VUS	1 lab	68f4d5f60d
11:5246830 HBB A>T	11	5246830	5246830	A	T	HBB	c.442T>A	NM_000518.5	NP_000509.1:p.(Ter148LysextTer21)	NC_000011.9:g.5246830A>T	(Likely) pathogenic	1 lab	68f527c13e
8:20110685 LZTS1 G>A	8	20110685	20110685	G	A	LZTS1	c.757C>T	NM_021020.5	NP_066300.1:p.(Arg253Cys)	NC_000008.10:g.20110685G>A	VUS	1 lab	68f58ca1e9
X:52677425 SSX7 C>T	X	52677425	52677425	C	T	SSX7	c.352G>A	NM_173358.2	NP_775494.1:p.(Glu118Lys)	NC_000023.10:g.52677425C>T	(Likely) benign	1 lab	68f5be9948
2:63719992 WDPCP G>A	2	63719992	63719992	G	A	WDPCP	c.158C>T	NM_015910.7	NP_056994.3:p.(Ala53Val)	NC_000002.11:g.63719992G>A	VUS	1 lab	68f5fcc0cd
8:118830718 EXT1 GC>G	8	118830718	118830720	GC	G	EXT1	c.1587del	NM_000127.3	NP_000118.2:p.(Trp529CysfsTer18)	NC_000008.10:g.118830720del	(Likely) pathogenic	1 lab	68f8eae4bd
1:59132702 MYSM1 T>C	1	59132702	59132702	T	C	MYSM1	c.2031+8A>G	NM_001085487.3	NP_001078956.1:p.?	NC_000001.10:g.59132702T>C	(Likely) benign	1 lab	68f90e21e4
16:15847280 MYH11 T>G	16	15847280	15847280	T	G	MYH11	c.1835A>C	NM_002474.3	NP_002465.1:p.(Asp612Ala)	NC_000016.9:g.15847280T>G	VUS	1 lab	68f92d1b09
3:49064473 IMPDH2 G>C	3	49064473	49064473	G	C	IMPDH2	c.539C>G	NM_000884.3	NP_000875.2:p.(Thr180Arg)	NC_000003.11:g.49064473G>C	VUS	1 lab	68fa371d42
16:15785084 NDE1 G>T	16	15785084	15785084	G	T	NDE1	c.607G>T	NM_017668.3	NP_060138.1:p.(Asp203Tyr)	NC_000016.9:g.15785084G>T	VUS	1 lab	68fa42e597
2:179403476 TTN C>G	2	179403476	179403476	C	G	TTN	c.99080G>C	NM_001267550.2	NP_001254479.2:p.(Gly33027Ala)	NC_000002.11:g.179403476C>G	(Likely) benign	1 lab	68fada3d26
6:7727525 BMP6 C>G	6	7727525	7727525	C	G	BMP6	c.337C>G	NM_001718.6	NP_001709.1:p.(Gln113Glu)	NC_000006.11:g.7727525C>G	(Likely) benign	1 lab	68fc974573
12:111758280 CUX2 G>A	12	111758280	111758280	G	A	CUX2	c.2467G>A	NM_015267.4	NP_056082.2:p.(Ala823Thr)	NC_000012.11:g.111758280G>A	(Likely) benign	1 lab	68fe4ff26a
X:2878453 ARSL C>G	X	2878453	2878453	C	G	ARSL	c.-12G>C	NM_000047.3	NP_000038.2:p.?	NC_000023.10:g.2878453C>G	(Likely) benign	1 lab	6900d50601
8:144997874 PLEC C>T	8	144997874	144997874	C	T	PLEC	c.6223G>A	NM_201384.3	NP_958786.1:p.(Val2075Met)	NC_000008.10:g.144997874C>T	(Likely) benign	1 lab	6901ba5934
2:20867122 GDF7 G>GGGCGGCGGC	2	20867122	20867148	G	GGGCGGCGGC	GDF7	c.141_149dup	NM_182828.4	NP_878248.2:p.(Gly48_Gly50dup)	NC_000002.11:g.20867140_20867148dup	VUS	1 lab	6901e8e7c4
15:74467329 ISLR G>A	15	74467329	74467329	G	A	ISLR	c.130G>A	NM_005545.4	NP_005536.1:p.(Val44Met)	NC_000015.9:g.74467329G>A	(Likely) benign	1 lab	69049582aa
21:47783797 PCNT GCG>TTT	21	47783797	47783799	GCG	TTT	PCNT	c.2557_2559delinsTTT	NM_006031.6	NP_006022.3:p.(Ala853Phe)	NC_000021.8:g.47783797_47783799delinsTTT	VUS	1 lab	6906281860
2:233407210 CHRNG T>C	2	233407210	233407210	T	C	CHRNG	c.584T>C	NM_005199.5	NP_005190.4:p.(Ile195Thr)	NC_000002.11:g.233407210T>C	VUS	1 lab	69071e105f
20:60926828 LAMA5 G>A	20	60926828	60926828	G	A	LAMA5	c.888C>T	NM_005560.6	NP_005551.3:p.(Ile296=)	NC_000020.10:g.60926828G>A	(Likely) benign	1 lab	69073dc8b1
3:48698677 CELSR3 G>T	3	48698677	48698677	G	T	CELSR3	c.1391C>A	NM_001407.3	NP_001398.2:p.(Pro464His)	NC_000003.11:g.48698677G>T	VUS	1 lab	690a77f739
7:129944399 CPA4 C>T	7	129944399	129944399	C	T	CPA4	c.466C>T	NM_016352.4	NP_057436.2:p.(Arg156Trp)	NC_000007.13:g.129944399C>T	VUS	1 lab	690b8fcfec
19:18896600 COMP G>A	19	18896600	18896600	G	A	COMP	c.1551C>T	NM_000095.3	NP_000086.2:p.(Ile517=)	NC_000019.9:g.18896600G>A	(Likely) benign	1 lab	690c1cb77b
16:27475848 GTF3C1 G>C	16	27475848	27475848	G	C	GTF3C1	c.5665C>G	NM_001520.4	NP_001511.2:p.(Gln1889Glu)	NC_000016.9:g.27475848G>C	(Likely) benign	1 lab	690ca85ab2
6:117237423 RFX6 C>T	6	117237423	117237423	C	T	RFX6	c.918C>T	NM_173560.4	NP_775831.2:p.(Leu306=)	NC_000006.11:g.117237423C>T	(Likely) benign	1 lab	690dd0dfe6
17:60042775 MED13 A>G	17	60042775	60042775	A	G	MED13	c.4436T>C	NM_005121.3	NP_005112.2:p.(Leu1479Ser)	NC_000017.10:g.60042775A>G	VUS	1 lab	690ef3f7cc
1:16378736 CLCNKB G>A	1	16378736	16378736	G	A	CLCNKB	c.1452G>A	NM_000085.5	NP_000076.2:p.(Thr484=)	NC_000001.10:g.16378736G>A	VUS	1 lab	690f690ff2
1:202302654 UBE2T A>G	1	202302654	202302654	A	G	UBE2T	c.209T>C	NM_014176.4	NP_054895.1:p.(Phe70Ser)	NC_000001.10:g.202302654A>G	VUS	1 lab	690ff4563d
5:36052063 UGT3A2 A>T	5	36052063	36052063	A	T	UGT3A2	c.220T>A	NM_174914.4	NP_777574.2:p.(Tyr74Asn)	NC_000005.9:g.36052063A>T	VUS	1 lab	691027920b
1:39851254 MACF1 A>G	1	39851254	39851254	A	G	MACF1	c.13997A>G	NM_001394062.1	NP_001380991.1:p.(Glu4666Gly)	NC_000001.10:g.39851254A>G	VUS	1 lab	69107ed758
22:40045757 CACNA1I A>AAGG	22	40045757	40045777	A	AAGG	CACNA1I	c.1837_1839dup	NM_021096.4	NP_066919.2:p.(Glu613dup)	NC_000022.10:g.40045775_40045777dup	VUS	1 lab	6910a6ff59
2:48026557 MSH6 A>G	2	48026557	48026557	A	G	MSH6	c.1435A>G	NM_000179.3	NP_000170.1:p.(Lys479Glu)	NC_000002.11:g.48026557A>G	VUS	1 lab	6910ad4d83
19:51215195 SHANK1 C>T	19	51215195	51215195	C	T	SHANK1	c.960+9G>A	NM_016148.5	NP_057232.2:p.?	NC_000019.9:g.51215195C>T	(Likely) benign	1 lab	6911c62e8a
12:56090810 ITGA7 C>T	12	56090810	56090810	C	T	ITGA7	c.1610G>A	NM_002206.3	NP_002197.2:p.(Arg537Gln)	NC_000012.11:g.56090810C>T	VUS	1 lab	69122a8402
2:171704223 GAD1 C>T	2	171704223	171704223	C	T	GAD1	c.1040C>T	NM_000817.3	NP_000808.2:p.(Thr347Met)	NC_000002.11:g.171704223C>T	VUS	1 lab	6913a284e5
7:155532533 RBM33 CCCCACCCCAGCA>C	7	155532533	155532551	CCCCACCCCAGCA	C	RBM33	c.1869_1880del	NM_053043.3	NP_444271.2:p.(Pro630_His633del)	NC_000007.13:g.155532540_155532551del	(Likely) benign	1 lab	691704669c
17:61995102 GH1 C>A	17	61995102	61995102	C	A	GH1	c.456+18G>T	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995102C>A	(Likely) benign	1 lab	691705a6aa
22:25601247 CRYBB3 G>A	22	25601247	25601247	G	A	CRYBB3	c.388G>A	NM_004076.5	NP_004067.1:p.(Glu130Lys)	NC_000022.10:g.25601247G>A	VUS	1 lab	6918093d30
16:2806608 SRRM2 G>T	16	2806608	2806608	G	T	SRRM2	c.242+1G>T	NM_016333.4	NP_057417.3:p.?	NC_000016.9:g.2806608G>T	VUS	1 lab	691909f004
2:27255974 TMEM214 G>A	2	27255974	27255974	G	A	TMEM214	c.91G>A	NM_017727.5	NP_060197.4:p.(Gly31Ser)	NC_000002.11:g.27255974G>A	(Likely) benign	1 lab	69193fcf98
16:30990901 SETD1A G>A	16	30990901	30990901	G	A	SETD1A	c.3794G>A	NM_014712.3	NP_055527.1:p.(Arg1265Gln)	NC_000016.9:g.30990901G>A	(Likely) benign	1 lab	691a7cec7f
X:18911646 PHKA2 T>G	X	18911646	18911646	T	G	PHKA2	c.3665A>C	NM_000292.3	NP_000283.1:p.(Tyr1222Ser)	NC_000023.10:g.18911646T>G	(Likely) benign	1 lab	691b27d836
X:49856856 CLCN5 G>A	X	49856856	49856856	G	A	CLCN5	c.2431G>A	NM_001127898.4	NP_001121370.1:p.(Asp811Asn)	NC_000023.10:g.49856856G>A	(Likely) benign	1 lab	691e236815
3:3137124 IL5RA T>C	3	3137124	3137124	T	C	IL5RA	c.714A>G	NM_175726.4	NP_783853.1:p.(Gln238=)	NC_000003.11:g.3137124T>C	VUS	1 lab	691e9d1261
9:138649995 KCNT1 G>T	9	138649995	138649995	G	T	KCNT1	c.760-265G>T	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138649995G>T	(Likely) benign	1 lab	691f2ca702
9:35100615 STOML2 C>T	9	35100615	35100615	C	T	STOML2	c.913G>A	NM_013442.3	NP_038470.1:p.(Val305Ile)	NC_000009.11:g.35100615C>T	VUS	1 lab	6921e84d22
2:152566220 NEB C>T	2	152566220	152566220	C	T	NEB	c.985G>A	NM_001164508.2	NP_001157980.2:p.(Glu329Lys)	NC_000002.11:g.152566220C>T	VUS	1 lab	6922e68c20
19:14218630 PRKACA C>T	19	14218630	14218630	C	T	PRKACA	c.47-409G>A	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14218630C>T	VUS	1 lab	6923ea2831
9:135204358 SETX ATAAC>A	9	135204358	135204365	ATAAC	A	SETX	c.2623_2626del	NM_015046.7	NP_055861.3:p.(Val875PhefsTer21)	NC_000009.11:g.135204362_135204365del	(Likely) pathogenic	1 lab	2214e0687e
3:193332823 OPA1 C>T	3	193332823	193332823	C	T	OPA1	c.344C>T	NM_130837.3	NP_570850.2:p.(Ala115Val)	NC_000003.11:g.193332823C>T	VUS	1 lab	6929589921
10:79396266 KCNMA1 T>C	10	79396266	79396266	T	C	KCNMA1	c.378+757A>G	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396266T>C	(Likely) benign	1 lab	6929e06aec
8:119122481 EXT1 TC>T	8	119122481	119122485	TC	T	EXT1	c.804del	NM_000127.3	NP_000118.2:p.(Lys269ArgfsTer4)	NC_000008.10:g.119122485del	(Likely) pathogenic	1 lab	692b71abc4
1:237957256 RYR2 T>A	1	237957256	237957256	T	A	RYR2	c.13872T>A	NM_001035.3	NP_001026.2:p.(Asp4624Glu)	NC_000001.10:g.237957256T>A	VUS	1 lab	2216be3d53
17:47247031 B4GALNT2 C>T	17	47247031	47247031	C	T	B4GALNT2	c.1462C>T	NM_001159387.2	NP_001152859.1:p.(Arg488Trp)	NC_000017.10:g.47247031C>T	VUS	1 lab	692d455f90
9:101552716 ANKS6 C>T	9	101552716	101552716	C	T	ANKS6	c.532G>A	NM_173551.5	NP_775822.3:p.(Glu178Lys)	NC_000009.11:g.101552716C>T	(Likely) benign	1 lab	236aec1b18
17:29587624 NF1 G>C	17	29587624	29587624	G	C	NF1	c.4577+91G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29587624G>C	VUS	1 lab	692dd30f07
4:80898843 ANTXR2 C>T	4	80898843	80898843	C	T	ANTXR2	c.1360G>A	NM_058172.6	NP_477520.2:p.(Ala454Thr)	NC_000004.11:g.80898843C>T	VUS	1 lab	6935612aea
9:118949777 PAPPA G>A	9	118949777	118949777	G	A	PAPPA	c.760G>A	NM_002581.5	NP_002572.2:p.(Glu254Lys)	NC_000009.11:g.118949777G>A	VUS	1 lab	6935798300
22:42306490 SHISA8 G>T	22	42306490	42306490	G	T	SHISA8	c.733C>A	NM_001207020.3	NP_001193949.1:p.(Gln245Lys)	NC_000022.10:g.42306490G>T	VUS	1 lab	6937f88c59
10:50030541 WDFY4 C>A	10	50030541	50030541	C	A	WDFY4	c.5941C>A	NM_001394531.1	NP_001381460.1:p.(Pro1981Thr)	NC_000010.10:g.50030541C>A	VUS	1 lab	6937fa9b08
1:236176770 NID1 C>A	1	236176770	236176770	C	A	NID1	c.2345G>T	NM_002508.3	NP_002499.2:p.(Gly782Val)	NC_000001.10:g.236176770C>A	(Likely) benign	1 lab	6939617140
7:158664215 DYNC2I1 G>A	7	158664215	158664215	G	A	DYNC2I1	c.452G>A	NM_018051.5	NP_060521.4:p.(Arg151Gln)	NC_000007.13:g.158664215G>A	VUS	1 lab	693a15ce74
15:91354530 BLM C>T	15	91354530	91354530	C	T	BLM	c.3970C>T	NM_000057.4	NP_000048.1:p.(His1324Tyr)	NC_000015.9:g.91354530C>T	VUS	1 lab	69a61d22e6
11:46341881 CREB3L1 T>G	11	46341881	46341881	T	G	CREB3L1	c.1325T>G	NM_052854.4	NP_443086.1:p.(Leu442Arg)	NC_000011.9:g.46341881T>G	(Likely) benign	1 lab	693a45333f
16:68716319 CDH3 G>A	16	68716319	68716319	G	A	CDH3	c.1111G>A	NM_001793.6	NP_001784.2:p.(Gly371Ser)	NC_000016.9:g.68716319G>A	VUS	1 lab	693aa5860c
1:45797506 MUTYH T>C	1	45797506	45797506	T	C	MUTYH	c.929A>G	NM_001048174.2	NP_001041639.1:p.(Gln310Arg)	NC_000001.10:g.45797506T>C	VUS	1 lab	693b62862c
1:152281856 FLG A>C	1	152281856	152281856	A	C	FLG	c.5506T>G	NM_002016.2	NP_002007.1:p.(Ser1836Ala)	NC_000001.10:g.152281856A>C	(Likely) benign	1 lab	693bc2822a
1:39802164 MACF1 G>A	1	39802164	39802164	G	A	MACF1	c.9904G>A	NM_001394062.1	NP_001380991.1:p.(Glu3302Lys)	NC_000001.10:g.39802164G>A	VUS	1 lab	22181e6545
14:61504402 SLC38A6 G>T	14	61504402	61504402	G	T	SLC38A6	c.624+1G>T	NM_153811.3	NP_722518.2:p.?	NC_000014.8:g.61504402G>T	VUS	1 lab	69409950c5
15:25200899 SNURF GCGA>G	15	25200899	25200903	GCGA	G	SNURF	c.14+692_14+694del	NM_001394334.1	NP_001381263.1:p.?	NC_000015.9:g.25200901_25200903del	(Likely) benign	1 lab	6940fa0339
1:144866643 PDE4DIP G>A	1	144866643	144866643	G	A	PDE4DIP	c.5797C>T	NM_001395426.1	NP_001382355.1:p.(Arg1933Cys)	NC_000001.10:g.144866643G>A	VUS	1 lab	694163331a
16:22157575 VWA3A C>T	16	22157575	22157575	C	T	VWA3A	c.2749C>T	NM_173615.5	NP_775886.3:p.(Gln917Ter)	NC_000016.9:g.22157575C>T	VUS	1 lab	6943eff56d
16:2815213 SRRM2 T>C	16	2815213	2815213	T	C	SRRM2	c.4684T>C	NM_016333.4	NP_057417.3:p.(Ser1562Pro)	NC_000016.9:g.2815213T>C	(Likely) benign	1 lab	6943fe149a
16:57693432 ADGRG1 C>T	16	57693432	57693432	C	T	ADGRG1	c.1394C>T	NM_201525.4	NP_958933.1:p.(Ser465Phe)	NC_000016.9:g.57693432C>T	(Likely) benign	1 lab	69441cda19
9:139091560 LHX3 C>T	9	139091560	139091560	C	T	LHX3	c.418G>A	NM_178138.6	NP_835258.1:p.(Val140Met)	NC_000009.11:g.139091560C>T	VUS	1 lab	694597c08c
11:17432093 ABCC8 G>C	11	17432093	17432093	G	C	ABCC8	c.2664C>G	NM_000352.6	NP_000343.2:p.(His888Gln)	NC_000011.9:g.17432093G>C	VUS	1 lab	69478ec1bb
9:119461748 ASTN2 G>A	9	119461748	119461748	G	A	ASTN2	c.2806+26302C>T	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119461748G>A	VUS	1 lab	6948b1238f
16:84479963 ATP2C2 A>G	16	84479963	84479963	A	G	ATP2C2	c.1430A>G	NM_014861.4	NP_055676.3:p.(Tyr477Cys)	NC_000016.9:g.84479963A>G	VUS	1 lab	69495304b1
15:54008795 WDR72 T>C	15	54008795	54008795	T	C	WDR72	c.339+9A>G	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.54008795T>C	(Likely) benign	1 lab	221ba419ba
19:16962328 SIN3B G>A	19	16962328	16962328	G	A	SIN3B	c.832G>A	NM_001297595.2	NP_001284524.1:p.(Val278Met)	NC_000019.9:g.16962328G>A	VUS	1 lab	694c61f66c
15:50888486 TRPM7 T>C	15	50888486	50888486	T	C	TRPM7	c.3256A>G	NM_017672.6	NP_060142.3:p.(Ile1086Val)	NC_000015.9:g.50888486T>C	VUS	1 lab	694df424dc
4:3076650 HTT AG>A	4	3076650	3076651	AG	A	HTT	c.99del	NM_001388492.1	NP_001375421.1:p.(Gln33HisfsTer68)	NC_000004.11:g.3076651del	(Likely) benign	1 lab	694ffa6579
10:75602207 CAMK2G G>A	10	75602207	75602207	G	A	CAMK2G	c.903+9C>T	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75602207G>A	(Likely) benign	1 lab	69502d245f
17:10545607 MYH3 C>G	17	10545607	10545607	C	G	MYH3	c.1909G>C	NM_002470.4	NP_002461.2:p.(Val637Leu)	NC_000017.10:g.10545607C>G	VUS	1 lab	6951c062b1
22:19960805 ARVCF G>A	22	19960805	19960805	G	A	ARVCF	c.2275C>T	NM_001670.3	NP_001661.1:p.(Arg759Cys)	NC_000022.10:g.19960805G>A	VUS	1 lab	69536945d8
22:29196448 XBP1 C>T	22	29196448	29196448	C	T	XBP1	c.65G>A	NM_001079539.2	NP_001073007.1:p.(Gly22Glu)	NC_000022.10:g.29196448C>T	VUS	1 lab	69559620d5
11:102984857 DYNC2H1 A>G	11	102984857	102984857	A	G	DYNC2H1	c.392A>G	NM_001377.3	NP_001368.2:p.(Asp131Gly)	NC_000011.9:g.102984857A>G	VUS	1 lab	6955c2aa0a
17:79803795 P4HB AGTT>A	17	79803795	79803798	AGTT	A	P4HB	c.1126_1128del	NM_000918.4	NP_000909.2:p.(Asn376del)	NC_000017.10:g.79803796_79803798del	VUS	1 lab	695b6bac30
20:44596674 ZNF335 T>C	20	44596674	44596674	T	C	ZNF335	c.521-8A>G	NM_022095.4	NP_071378.1:p.?	NC_000020.10:g.44596674T>C	VUS	1 lab	695cc59796
6:44224918 SLC35B2 C>T	6	44224918	44224918	C	T	SLC35B2	c.11+219G>A	NM_178148.4	NP_835361.1:p.?	NC_000006.11:g.44224918C>T	(Likely) benign	1 lab	695d722c52
15:43819601 MAP1A C>T	15	43819601	43819601	C	T	MAP1A	c.5930C>T	NM_002373.6	NP_002364.5:p.(Thr1977Ile)	NC_000015.9:g.43819601C>T	(Likely) benign	1 lab	695d9806b2
X:69652456 GDPD2 G>A	X	69652456	69652456	G	A	GDPD2	c.1483G>A	NM_017711.4	NP_060181.2:p.(Val495Ile)	NC_000023.10:g.69652456G>A	(Likely) benign	1 lab	695dde9303
X:106034423 RNF128 G>A	X	106034423	106034423	G	A	RNF128	c.1112G>A	NM_194463.2	NP_919445.1:p.(Gly371Glu)	NC_000023.10:g.106034423G>A	VUS	1 lab	695e90e6dc
16:66503684 BEAN1 C>T	16	66503684	66503684	C	T	BEAN1	c.205C>T	NM_001178020.3	NP_001171491.1:p.(Arg69Trp)	NC_000016.9:g.66503684C>T	(Likely) benign	1 lab	23705b6ac8
X:149638740 MAMLD1 C>G	X	149638740	149638740	C	G	MAMLD1	c.895C>G	NM_005491.5	NP_005482.2:p.(Pro299Ala)	NC_000023.10:g.149638740C>G	(Likely) benign	1 lab	69627605ac
16:837166 RPUSD1 A>G	16	837166	837166	A	G	RPUSD1	c.320T>C	NM_058192.3	NP_478072.1:p.(Ile107Thr)	NC_000016.9:g.837166A>G	VUS	1 lab	69652e4611
2:61523960 USP34 G>A	2	61523960	61523960	G	A	USP34	c.4229C>T	NM_014709.4	NP_055524.3:p.(Ala1410Val)	NC_000002.11:g.61523960G>A	VUS	1 lab	69653d04d4
5:74047274 GFM2 G>A	5	74047274	74047274	G	A	GFM2	c.445C>T	NM_001281302.2	NP_001268231.1:p.(Arg149Ter)	NC_000005.9:g.74047274G>A	(Likely) pathogenic	1 lab	221e47b197
10:72020461 NPFFR1 G>A	10	72020461	72020461	G	A	NPFFR1	c.357C>T	NM_022146.5	NP_071429.1:p.(Ser119=)	NC_000010.10:g.72020461G>A	(Likely) benign	1 lab	6969fa5ddb
8:1998864 MYOM2 T>C	8	1998864	1998864	T	C	MYOM2	c.-12-5T>C	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.1998864T>C	(Likely) benign	1 lab	2372273816
7:157202503 DNAJB6 G>A	7	157202503	157202503	G	A	DNAJB6	c.706G>A	NM_058246.4	NP_490647.1:p.(Asp236Asn)	NC_000007.13:g.157202503G>A	(Likely) benign	1 lab	2372d0f300
19:18980902 GDF1 T>TG	19	18980902	18980907	T	TG	GDF1	c.214dup	NM_001492.6	NP_001483.3:p.(Gln72ProfsTer55)	NC_000019.9:g.18980907dup	VUS	1 lab	696bbb1687
21:45675981 DNMT3L C>A	21	45675981	45675981	C	A	DNMT3L	c.573G>T	NM_175867.3	NP_787063.1:p.(Arg191=)	NC_000021.8:g.45675981C>A	(Likely) benign	1 lab	696c428d85
7:121738926 AASS TAAAAAAAAAAAA>T	7	121738926	121738950	TAAAAAAAAAAAA	T	AASS	c.1407-18_1407-7del	NM_005763.4	NP_005754.2:p.?	NC_000007.13:g.121738939_121738950del	VUS	1 lab	696c6a8d05
7:6017263 PMS2 AAGGC>A	7	6017263	6017267	AAGGC	A	PMS2	c.2397_2400del	NM_000535.7	NP_000526.2:p.(Ser801GlufsTer15)	NC_000007.13:g.6017264_6017267del	VUS	1 lab	696ce859d2
17:78081389 GAA G>A	17	78081389	78081389	G	A	GAA	c.726G>A	NM_000152.5	NP_000143.2:p.(Ala242=)	NC_000017.10:g.78081389G>A	(Likely) benign	1 lab	696df696c0
16:27509056 GTF3C1 G>C	16	27509056	27509056	G	C	GTF3C1	c.2252C>G	NM_001520.4	NP_001511.2:p.(Ser751Cys)	NC_000016.9:g.27509056G>C	VUS	1 lab	221fd90277
X:101396098 TCEAL6 T>C	X	101396098	101396098	T	C	TCEAL6	c.206A>G	NM_001367790.1	NP_001354719.1:p.(Gln69Arg)	NC_000023.10:g.101396098T>C	VUS	1 lab	6972a50e15
14:24567884 NRL C>T	14	24567884	24567884	C	T	NRL	c.-27-15800G>A	NM_001354768.3	NP_001341697.1:p.?	NC_000014.8:g.24567884C>T	VUS	1 lab	6974490a9b
16:3304482 MEFV C>A	16	3304482	3304482	C	A	MEFV	c.586G>T	NM_000243.2	NP_000234.1:p.(Gly196Trp)	NC_000016.9:g.3304482C>A	(Likely) benign	1 lab	2373b31b4b
16:1841424 IGFALS C>G	16	1841424	1841424	C	G	IGFALS	c.995G>C	NM_004970.3	NP_004961.1:p.(Arg332Pro)	NC_000016.9:g.1841424C>G	VUS	1 lab	69753fddbd
6:111695868 REV3L T>G	6	111695868	111695868	T	G	REV3L	c.3690A>C	NM_001372078.1	NP_001359007.1:p.(Lys1230Asn)	NC_000006.11:g.111695868T>G	(Likely) benign	1 lab	69754f50be
12:56583325 SMARCC2 CCCGCCGCCTCCCGCCGCCGCGG>C	12	56583325	56583365	CCCGCCGCCTCCCGCCGCCGCGG	C	SMARCC2				NC_000012.11:g.56583344_56583365del	(Likely) benign	1 lab	23747a3ec9
12:121432041 HNF1A G>C	12	121432041	121432041	G	C	HNF1A	c.788G>C	NM_000545.8	NP_000536.6:p.(Arg263Pro)	NC_000012.11:g.121432041G>C	(Likely) pathogenic	1 lab	697822f193
11:77815105 ALG8 AAAG>A	11	77815105	77815110	AAAG	A	ALG8	c.1277-10_1277-8del	NM_024079.5	NP_076984.2:p.?	NC_000011.9:g.77815108_77815110del	(Likely) benign	1 lab	69782ec20e
2:27677464 IFT172 A>C	2	27677464	27677464	A	C	IFT172	c.3435T>G	NM_015662.3	NP_056477.1:p.(His1145Gln)	NC_000002.11:g.27677464A>C	VUS	1 lab	6978c678e2
X:85155709 CHM A>T	X	85155709	85155709	A	T	CHM	c.1355T>A	NM_000390.4	NP_000381.1:p.(Ile452Asn)	NC_000023.10:g.85155709A>T	(Likely) benign	1 lab	697a904cbd
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer46)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	697b5144b4
15:48757801 FBN1 C>T	15	48757801	48757801	C	T	FBN1	c.4906G>A	NM_000138.5	NP_000129.3:p.(Gly1636Ser)	NC_000015.9:g.48757801C>T	VUS	1 lab	697bb4a72a
13:28498699 PDX1 T>TGCC	13	28498699	28498714	T	TGCC	PDX1	c.726_728dup	NM_000209.4	NP_000200.1:p.(Pro244dup)	NC_000013.10:g.28498712_28498714dup	(Likely) benign	1 lab	697bc12654
3:50379442 ZMYND10 C>T	3	50379442	50379442	C	T	ZMYND10	c.999+4G>A	NM_015896.4	NP_056980.2:p.?	NC_000003.11:g.50379442C>T	(Likely) benign	1 lab	697bc6fe2f
7:123276967 ASB15 CCAG>C	7	123276967	123276971	CCAG	C	ASB15	c.1701_1703del	NM_001290258.2	NP_001277187.1:p.(Ala568del)	NC_000007.13:g.123276969_123276971del	VUS	1 lab	697d42be05
10:12136104 DHTKD1 A>C	10	12136104	12136104	A	C	DHTKD1	c.1192A>C	NM_018706.7	NP_061176.4:p.(Asn398His)	NC_000010.10:g.12136104A>C	VUS	1 lab	697e274e9f
3:155560392 SLC33A1 C>T	3	155560392	155560392	C	T	SLC33A1	c.792G>A	NM_004733.4	NP_004724.1:p.(Trp264Ter)	NC_000003.11:g.155560392C>T	VUS	1 lab	22209bcf48
5:90085743 ADGRV1 A>G	5	90085743	90085743	A	G	ADGRV1	c.14043+75A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90085743A>G	(Likely) benign	1 lab	237798d959
2:238275618 COL6A3 G>A	2	238275618	238275618	G	A	COL6A3	c.5212C>T	NM_004369.4	NP_004360.2:p.(Arg1738Cys)	NC_000002.11:g.238275618G>A	VUS	1 lab	6982e12e94
X:106310827 RBM41 C>T	X	106310827	106310827	C	T	RBM41	c.1244G>A	NM_001324242.2	NP_001311171.1:p.(Arg415Gln)	NC_000023.10:g.106310827C>T	(Likely) benign	1 lab	6983811aa4
X:135309487 MAP7D3 T>C	X	135309487	135309487	T	C	MAP7D3	c.1990A>G	NM_024597.4	NP_078873.2:p.(Lys664Glu)	NC_000023.10:g.135309487T>C	VUS	1 lab	69875067f9
6:51503597 PKHD1 CA>C	6	51503597	51503615	CA	C	PKHD1	c.11506+49del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51503615del	(Likely) benign	1 lab	6987a8b800
9:111688798 ELP1 C>G	9	111688798	111688798	C	G	ELP1	c.466+5G>C	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111688798C>G	VUS	1 lab	698869bff0
8:62563644 ASPH TG>T	8	62563644	62563645	TG	T	ASPH	c.454del	NM_004318.4	NP_004309.2:p.(Gln152SerfsTer41)	NC_000008.10:g.62563645del	(Likely) pathogenic	1 lab	698a074de4
6:35213840 SCUBE3 C>T	6	35213840	35213840	C	T	SCUBE3	c.2719C>T	NM_152753.4	NP_689966.2:p.(Arg907Cys)	NC_000006.11:g.35213840C>T	VUS	1 lab	698a546cf4
12:49360242 WNT10B C>T	12	49360242	49360242	C	T	WNT10B	c.806G>A	NM_003394.4	NP_003385.2:p.(Arg269Gln)	NC_000012.11:g.49360242C>T	VUS	1 lab	698bbac066
16:86601882 FOXC2 G>A	16	86601882	86601882	G	A	FOXC2	c.941G>A	NM_005251.3	NP_005242.1:p.(Gly314Asp)	NC_000016.9:g.86601882G>A	(Likely) benign	1 lab	698c20436f
2:145147335 ZEB2 G>A	2	145147335	145147335	G	A	ZEB2	c.3328C>T	NM_014795.4	NP_055610.1:p.(Arg1110Trp)	NC_000002.11:g.145147335G>A	VUS	1 lab	698d6e124b
5:140953322 DIAPH1 CAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCT>C	5	140953322	140953382	CAGCACTCCCAGGCAAAGGAGGTGGTGGTGGGGGGATTCT	C	DIAPH1	c.2056_2094del	NM_005219.5	NP_005210.3:p.(Arg686_Ala698del)	NC_000005.9:g.140953344_140953382del	VUS	1 lab	698e82e824
17:10534951 MYH3 TCTC>T	17	10534951	10534957	TCTC	T	MYH3	c.5260_5262del	NM_002470.4	NP_002461.2:p.(Glu1754del)	NC_000017.10:g.10534955_10534957del	VUS	1 lab	698f04a449
22:51117861 SHANK3 G>GCATTTAAAGGAAATAATGTAT	22	51117861	51117862	G	GCATTTAAAGGAAATAATGTAT	SHANK3	c.1110+5_1110+6insCATTTAAAGGAAATAATGTAT	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117861_51117862insCATTTAAAGGAAATAATGTAT	VUS	1 lab	698f5cd118
16:77354969 ADAMTS18 C>A	16	77354969	77354969	C	A	ADAMTS18	c.2287+7G>T	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77354969C>A	VUS	1 lab	6990a20a1a
10:103990693 PITX3 G>T	10	103990693	103990693	G	T	PITX3	c.487C>A	NM_005029.4	NP_005020.1:p.(Pro163Thr)	NC_000010.10:g.103990693G>T	VUS	1 lab	6991d23cfe
7:31013769 GHRHR G>T	7	31013769	31013769	G	T	GHRHR	c.751+16G>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013769G>T	(Likely) benign	1 lab	6992b6b3d9
7:128488739 FLNC G>A	7	128488739	128488739	G	A	FLNC	c.4705G>A	NM_001458.4	NP_001449.3:p.(Ala1569Thr)	NC_000007.13:g.128488739G>A	VUS	1 lab	237896e58c
12:122962824 ZCCHC8 C>G	12	122962824	122962824	C	G	ZCCHC8	c.1156G>C	NM_017612.5	NP_060082.2:p.(Gly386Arg)	NC_000012.11:g.122962824C>G	VUS	1 lab	6993a1ad14
9:140711908 EHMT1 A>G	9	140711908	140711908	A	G	EHMT1	c.3392A>G	NM_024757.5	NP_079033.4:p.(Tyr1131Cys)	NC_000009.11:g.140711908A>G	VUS	1 lab	6994ccaebc
20:33891761 UQCC1 T>TCGGA	20	33891761	33891765	T	TCGGA	UQCC1	c.873_876dup	NM_018244.5	NP_060714.3:p.(Thr293SerfsTer41)	NC_000020.10:g.33891762_33891765dup	VUS	1 lab	6994ed1691
14:103412041 CDC42BPB C>T	14	103412041	103412041	C	T	CDC42BPB	c.3769G>A	NM_006035.4	NP_006026.3:p.(Gly1257Ser)	NC_000014.8:g.103412041C>T	VUS	1 lab	6994f45fc4
1:119474323 TBX15 A>G	1	119474323	119474323	A	G	TBX15	c.338T>C	NM_001330677.2	NP_001317606.1:p.(Ile113Thr)	NC_000001.10:g.119474323A>G	VUS	1 lab	69962ccdc1
16:53652993 RPGRIP1L G>GGT	16	53652993	53652997	G	GGT	RPGRIP1L	c.3558_3559dup	NM_015272.5	NP_056087.2:p.(Pro1187HisfsTer21)	NC_000016.9:g.53652996_53652997dup	(Likely) pathogenic	1 lab	6999192469
X:53263955 IQSEC2 A>C	X	53263955	53263955	A	C	IQSEC2	c.3913T>G	NM_001111125.3	NP_001104595.1:p.(Ser1305Ala)	NC_000023.10:g.53263955A>C	VUS	1 lab	699ae4208d
10:37455622 ANKRD30A A>T	10	37455622	37455622	A	T	ANKRD30A	c.2154A>T	NM_052997.3	NP_443723.3:p.(Glu718Asp)	NC_000010.10:g.37455622A>T	VUS	1 lab	699af94c96
2:10582131 ODC1 T>C	2	10582131	10582131	T	C	ODC1	c.913+7A>G	NM_002539.3	NP_002530.1:p.?	NC_000002.11:g.10582131T>C	(Likely) benign	1 lab	699bb6a8df
9:14848692 FREM1 G>T	9	14848692	14848692	G	T	FREM1	c.1232C>A	NM_001379081.2	NP_001366010.1:p.(Thr411Lys)	NC_000009.11:g.14848692G>T	VUS	1 lab	699da83f19
7:100420232 EPHB4 C>T	7	100420232	100420232	C	T	EPHB4	c.469G>A	NM_004444.5	NP_004435.3:p.(Gly157Arg)	NC_000007.13:g.100420232C>T	(Likely) benign	1 lab	699e24ef31
5:42719272 GHR C>T	5	42719272	42719272	C	T	GHR	c.1663C>T	NM_000163.5	NP_000154.1:p.(His555Tyr)	NC_000005.9:g.42719272C>T	VUS	1 lab	69bcc7910e
21:47412703 COL6A1 G>A	21	47412703	47412703	G	A	COL6A1	c.1314G>A	NM_001848.3	NP_001839.2:p.(Thr438=)	NC_000021.8:g.47412703G>A	(Likely) benign	1 lab	699f08dda5
11:17448584 ABCC8 T>C	11	17448584	17448584	T	C	ABCC8	c.2222+12A>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17448584T>C	(Likely) benign	1 lab	699f196daa
X:37028323 FAM47C C>G	X	37028323	37028323	C	G	FAM47C	c.1840C>G	NM_001013736.3	NP_001013758.1:p.(Arg614Gly)	NC_000023.10:g.37028323C>G	(Likely) benign	1 lab	699fdb2f1e
20:57561221 NELFCD G>A	20	57561221	57561221	G	A	NELFCD	c.134G>A	NM_198976.4	NP_945327.3:p.(Arg45Gln)	NC_000020.10:g.57561221G>A	VUS	1 lab	69a1da935b
10:60553300 BICC1 AC>A	10	60553300	60553301	AC	A	BICC1	c.1105del	NM_001080512.3	NP_001073981.1:p.(Gln369AsnfsTer6)	NC_000010.10:g.60553301del	VUS	1 lab	2223d6f3e2
18:31325875 ASXL3 G>A	18	31325875	31325875	G	A	ASXL3	c.6063G>A	NM_030632.3	NP_085135.1:p.(Pro2021=)	NC_000018.9:g.31325875G>A	(Likely) benign	1 lab	69a2fe44f1
1:154222272 UBAP2L A>AG	1	154222272	154222273	A	AG	UBAP2L	c.1213+360dup	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154222273dup	(Likely) benign	1 lab	69a3b7239b
18:6942130 LAMA1 G>A	18	6942130	6942130	G	A	LAMA1	c.9176C>T	NM_005559.4	NP_005550.2:p.(Ala3059Val)	NC_000018.9:g.6942130G>A	VUS	1 lab	69a4eff35e
8:99135575 POP1 G>A	8	99135575	99135575	G	A	POP1	c.10G>A	NM_001145860.2	NP_001139332.1:p.(Ala4Thr)	NC_000008.10:g.99135575G>A	(Likely) benign	1 lab	69a56771cb
6:49426918 MMUT C>T	6	49426918	49426918	C	T	MMUT	c.262G>A	NM_000255.4	NP_000246.2:p.(Val88Met)	NC_000006.11:g.49426918C>T	(Likely) benign	1 lab	69a5988314
16:2136746 TSC2 C>G	16	2136746	2136746	C	G	TSC2	c.4863C>G	NM_000548.5	NP_000539.2:p.(Ile1621Met)	NC_000016.9:g.2136746C>G	VUS	1 lab	69a7591b36
2:166223900 SCN2A A>G	2	166223900	166223900	A	G	SCN2A	c.3675+19A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166223900A>G	(Likely) benign	1 lab	237a4f3a23
X:153581221 FLNA C>T	X	153581221	153581221	C	T	FLNA	c.6274G>A	NM_001456.4	NP_001447.2:p.(Gly2092Arg)	NC_000023.10:g.153581221C>T	VUS	1 lab	22273f4afd
X:48681883 HDAC6 C>T	X	48681883	48681883	C	T	HDAC6	c.3074C>T	NM_006044.4	NP_006035.2:p.(Ser1025Leu)	NC_000023.10:g.48681883C>T	VUS	1 lab	69a9e160c8
X:140994036 MAGEC1 TCTTTTCC>T	X	140994036	140994043	TCTTTTCC	T	MAGEC1	c.847_853del	NM_005462.5	NP_005453.2:p.(Leu283ArgfsTer23)	NC_000023.10:g.140994037_140994043del	VUS	1 lab	69aa41e07a
19:18901360 COMP G>T	19	18901360	18901360	G	T	COMP	c.217+11C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18901360G>T	(Likely) benign	1 lab	69aa51ee8e
8:126062806 WASHC5 C>T	8	126062806	126062806	C	T	WASHC5	c.2199G>A	NM_014846.4	NP_055661.3:p.(Lys733=)	NC_000008.10:g.126062806C>T	VUS	1 lab	69aac8232d
22:21348250 LZTR1 C>T	22	21348250	21348250	C	T	LZTR1	c.1391C>T	NM_006767.4	NP_006758.2:p.(Thr464Ile)	NC_000022.10:g.21348250C>T	VUS	1 lab	69ac2a0287
17:78039367 CCDC40 CCGCGACGAGGCGCACAGGGCGGTGCTGGAGG>C	17	78039367	78039401	CCGCGACGAGGCGCACAGGGCGGTGCTGGAGG	C	CCDC40	c.1528_1558del	NM_017950.4	NP_060420.2:p.(Asp510SerfsTer23)	NC_000017.10:g.78039371_78039401del	VUS	1 lab	69ad52785f
3:9034749 SRGAP3 A>G	3	9034749	9034749	A	G	SRGAP3	c.2409-10T>C	NM_014850.4	NP_055665.1:p.?	NC_000003.11:g.9034749A>G	(Likely) benign	1 lab	69ad60ddea
18:42456997 SETBP1 G>A	18	42456997	42456997	G	A	SETBP1	c.540+7749G>A	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456997G>A	(Likely) benign	1 lab	69af445be6
15:42059420 MGA C>T	15	42059420	42059420	C	T	MGA	c.9287C>T	NM_001400225.1	NP_001387154.1:p.(Ala3096Val)	NC_000015.9:g.42059420C>T	VUS	1 lab	69b0b74693
5:37182881 CPLANE1 G>T	5	37182881	37182881	G	T	CPLANE1	c.5402C>A	NM_001384732.1	NP_001371661.1:p.(Ala1801Glu)	NC_000005.9:g.37182881G>T	(Likely) benign	1 lab	69b0faffdb
6:157527920 ARID1B C>G	6	157527920	157527920	C	G	ARID1B	c.6014C>G	NM_001374828.1	NP_001361757.1:p.(Ser2005Cys)	NC_000006.11:g.157527920C>G	VUS	1 lab	69b17e6313
6:170102871 C6orf120 A>C	6	170102871	170102871	A	C	C6orf120	c.316A>C	NM_001029863.3	NP_001025034.1:p.(Ile106Leu)	NC_000006.11:g.170102871A>C	(Likely) benign	1 lab	69b2949e4b
16:3786645 CREBBP G>A	16	3786645	3786645	G	A	CREBBP	c.4560+6C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3786645G>A	(Likely) benign	1 lab	69b3c36045
1:235647796 B3GALNT2 C>T	1	235647796	235647796	C	T	B3GALNT2	c.397G>A	NM_152490.5	NP_689703.1:p.(Glu133Lys)	NC_000001.10:g.235647796C>T	(Likely) benign	1 lab	69b80115af
6:152690594 SYNE1 C>T	6	152690594	152690594	C	T	SYNE1	c.9651+12G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152690594C>T	(Likely) benign	1 lab	237b085ccc
4:1806569 FGFR3 G>A	4	1806569	1806569	G	A	FGFR3	c.1285G>A	NM_000142.5	NP_000133.1:p.(Ala429Thr)	NC_000004.11:g.1806569G>A	(Likely) benign	1 lab	69bab3036a
4:155507343 FGA A>C	4	155507343	155507343	A	C	FGA	c.1238T>G	NM_021871.4	NP_068657.1:p.(Phe413Cys)	NC_000004.11:g.155507343A>C	(Likely) benign	1 lab	69bc073deb
X:38146400 RPGR C>T	X	38146400	38146400	C	T	RPGR	c.1852G>A	NM_001034853.2	NP_001030025.1:p.(Gly618Arg)	NC_000023.10:g.38146400C>T	(Likely) benign	1 lab	69be2e0ca9
19:45411947 APOE C>T	19	45411947	45411947	C	T	APOE	c.394C>T	NM_000041.4	NP_000032.1:p.(Arg132Cys)	NC_000019.9:g.45411947C>T	VUS	1 lab	237bba8aa6
3:52022619 ACY1 T>C	3	52022619	52022619	T	C	ACY1	c.1001T>C	NM_000666.3	NP_000657.1:p.(Met334Thr)	NC_000003.11:g.52022619T>C	(Likely) benign	1 lab	69c2b0d1fa
4:144468627 SMARCA5 A>G	4	144468627	144468627	A	G	SMARCA5	c.2743A>G	NM_003601.4	NP_003592.3:p.(Ile915Val)	NC_000004.11:g.144468627A>G	(Likely) benign	1 lab	69c2b2c093
X:13767656 OFD1 A>G	X	13767656	13767656	A	G	OFD1	c.935+4A>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13767656A>G	(Likely) benign	1 lab	69c35f8c43
19:41066069 SPTBN4 G>A	19	41066069	41066069	G	A	SPTBN4	c.5675G>A	NM_020971.3	NP_066022.2:p.(Arg1892Gln)	NC_000019.9:g.41066069G>A	VUS	1 lab	69c4246d4a
18:10705646 PIEZO2 G>A	18	10705646	10705646	G	A	PIEZO2	c.5687C>T	NM_001378183.1	NP_001365112.1:p.(Ala1896Val)	NC_000018.9:g.10705646G>A	VUS	1 lab	69c5be445a
13:31898029 B3GLCT T>G	13	31898029	31898029	T	G	B3GLCT	c.1326T>G	NM_194318.4	NP_919299.3:p.(His442Gln)	NC_000013.10:g.31898029T>G	VUS	1 lab	69c7a3d2ac
9:21854663 MTAP C>T	9	21854663	21854663	C	T	MTAP	c.484C>T	NM_002451.4	NP_002442.2:p.(Arg162Trp)	NC_000009.11:g.21854663C>T	VUS	1 lab	69c7c3f570
18:13019205 CEP192 T>C	18	13019205	13019205	T	C	CEP192	c.1050T>C	NM_032142.4	NP_115518.3:p.(Ser350=)	NC_000018.9:g.13019205T>C	(Likely) benign	1 lab	69c8a2f79e
16:58036517 USB1 G>A	16	58036517	58036517	G	A	USB1	c.233G>A	NM_024598.4	NP_078874.2:p.(Arg78Gln)	NC_000016.9:g.58036517G>A	VUS	1 lab	69c8bf29c5
X:48925608 CCDC120 C>T	X	48925608	48925608	C	T	CCDC120	c.1958C>T	NM_001163321.4	NP_001156793.2:p.(Ala653Val)	NC_000023.10:g.48925608C>T	VUS	1 lab	69c9c917d1
11:12540039 PARVA G>A	11	12540039	12540039	G	A	PARVA	c.1017G>A	NM_018222.5	NP_060692.3:p.(Leu339=)	NC_000011.9:g.12540039G>A	VUS	1 lab	69cd5ed680
2:148705764 ORC4 C>T	2	148705764	148705764	C	T	ORC4	c.618G>A	NM_181741.4	NP_859525.1:p.(Val206=)	NC_000002.11:g.148705764C>T	VUS	1 lab	69cdb67888
13:42295506 VWA8 C>G	13	42295506	42295506	C	G	VWA8	c.2964G>C	NM_015058.2	NP_055873.1:p.(Gln988His)	NC_000013.10:g.42295506C>G	VUS	1 lab	69cdbce992
1:120461985 NOTCH2 G>A	1	120461985	120461985	G	A	NOTCH2	c.5731C>T	NM_024408.4	NP_077719.2:p.(Arg1911Cys)	NC_000001.10:g.120461985G>A	VUS	1 lab	69cf18e762
2:26507829 HADHB A>T	2	26507829	26507829	A	T	HADHB	c.1224+4A>T	NM_000183.3	NP_000174.1:p.?	NC_000002.11:g.26507829A>T	(Likely) benign	1 lab	69cf89db58
X:48661308 HDAC6 C>T	X	48661308	48661308	C	T	HDAC6	c.124C>T	NM_006044.4	NP_006035.2:p.(Arg42Cys)	NC_000023.10:g.48661308C>T	VUS	1 lab	69cfef9eec
7:33217085 BBS9 C>T	7	33217085	33217085	C	T	BBS9	c.329-5C>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217085C>T	(Likely) benign	1 lab	69d025e7e4
1:27094500 ARID1A C>T	1	27094500	27094500	C	T	ARID1A	c.3198+10C>T	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27094500C>T	(Likely) benign	1 lab	69d0fe3a72
1:227171916 COQ8A A>G	1	227171916	227171916	A	G	COQ8A	c.1378A>G	NM_020247.5	NP_064632.2:p.(Ser460Gly)	NC_000001.10:g.227171916A>G	(Likely) benign	1 lab	69d1eba0bb
6:31833535 SLC44A4 C>T	6	31833535	31833535	C	T	SLC44A4	c.1514G>A	NM_025257.3	NP_079533.2:p.(Gly505Glu)	NC_000006.11:g.31833535C>T	VUS	1 lab	69d76dc4d0
7:140266980 DENND2A C>T	7	140266980	140266980	C	T	DENND2A	c.1685G>A	NM_015689.5	NP_056504.3:p.(Arg562Lys)	NC_000007.13:g.140266980C>T	VUS	1 lab	69d7ce6a6a
2:240006231 HDAC4 C>T	2	240006231	240006231	C	T	HDAC4	c.2445-293G>A	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240006231C>T	(Likely) benign	1 lab	69d7fb785f
1:155265230 PKLR C>A	1	155265230	155265230	C	A	PKLR	c.505G>T	NM_000298.6	NP_000289.1:p.(Gly169Trp)	NC_000001.10:g.155265230C>A	VUS	1 lab	69d817ec68
3:50290458 GNAI2 C>T	3	50290458	50290458	C	T	GNAI2	c.306C>T	NM_002070.4	NP_002061.1:p.(Asp102=)	NC_000003.11:g.50290458C>T	VUS	1 lab	69daa14560
19:22156907 ZNF208 T>C	19	22156907	22156907	T	C	ZNF208	c.929A>G	NM_007153.3	NP_009084.2:p.(Glu310Gly)	NC_000019.9:g.22156907T>C	(Likely) benign	1 lab	69dab7b4cd
3:52356535 DNAH1 T>C	3	52356535	52356535	T	C	DNAH1	c.77T>C	NM_015512.5	NP_056327.4:p.(Val26Ala)	NC_000003.11:g.52356535T>C	VUS	1 lab	69dbcae638
12:120159203 CIT G>A	12	120159203	120159203	G	A	CIT	c.3643C>T	NM_001206999.2	NP_001193928.1:p.(Leu1215=)	NC_000012.11:g.120159203G>A	VUS	1 lab	69ddd7f3db
4:47676432 CORIN C>T	4	47676432	47676432	C	T	CORIN	c.1335G>A	NM_006587.4	NP_006578.2:p.(Pro445=)	NC_000004.11:g.47676432C>T	VUS	1 lab	69df3b98d1
7:83119506 SEMA3E T>C	7	83119506	83119506	T	C	SEMA3E	c.200A>G	NM_012431.3	NP_036563.1:p.(Gln67Arg)	NC_000007.13:g.83119506T>C	VUS	1 lab	69df9b48f4
22:32205541 DEPDC5 G>A	22	32205541	32205541	G	A	DEPDC5	c.1288-56G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32205541G>A	(Likely) benign	1 lab	237f6fd395
18:39595471 PIK3C3 G>A	18	39595471	39595471	G	A	PIK3C3	c.1357G>A	NM_002647.4	NP_002638.2:p.(Val453Ile)	NC_000018.9:g.39595471G>A	VUS	1 lab	69e0f5aaf6
1:40776388 COL9A2 G>A	1	40776388	40776388	G	A	COL9A2	c.682C>T	NM_001852.4	NP_001843.1:p.(Pro228Ser)	NC_000001.10:g.40776388G>A	VUS	1 lab	69e1723195
12:6709698 CHD4 A>G	12	6709698	6709698	A	G	CHD4	c.1063+2T>C	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6709698A>G	VUS	1 lab	69e17dcade
6:41127532 TREM2 G>A	6	41127532	41127532	G	A	TREM2	c.480C>T	NM_018965.4	NP_061838.1:p.(Ser160=)	NC_000006.11:g.41127532G>A	VUS	1 lab	69e2f0bd03
X:1413330 CSF2RA G>C	X	1413330	1413330	G	C	CSF2RA	c.756G>C	NM_006140.6	NP_006131.2:p.(Gln252His)	NC_000023.10:g.1413330G>C	VUS	1 lab	222953df7a
3:168833501 MECOM A>C	3	168833501	168833501	A	C	MECOM	c.2159T>G	NM_004991.4	NP_004982.2:p.(Leu720Trp)	NC_000003.11:g.168833501A>C	VUS	1 lab	69e4c0360e
19:36398339 TYROBP C>G	19	36398339	36398339	C	G	TYROBP	c.229+9G>C	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36398339C>G	(Likely) benign	1 lab	69e5cd3ff6
20:2842291 VPS16 C>T	20	2842291	2842291	C	T	VPS16	c.840C>T	NM_022575.4	NP_072097.2:p.(Ala280=)	NC_000020.10:g.2842291C>T	VUS	1 lab	69e633769c
19:501818 MADCAM1 G>A	19	501818	501818	G	A	MADCAM1	c.817G>A	NM_130760.3	NP_570116.2:p.(Ala273Thr)	NC_000019.9:g.501818G>A	VUS	1 lab	69e6893551
4:1932365 NSD2 C>T	4	1932365	1932365	C	T	NSD2	c.1423C>T	NM_001042424.3	NP_001035889.1:p.(His475Tyr)	NC_000004.11:g.1932365C>T	VUS	1 lab	69e68aa044
16:88788617 PIEZO1 C>T	16	88788617	88788617	C	T	PIEZO1	c.4955+9G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88788617C>T	(Likely) benign	1 lab	69e7fdc0d2
15:48905269 FBN1 C>T	15	48905269	48905269	C	T	FBN1	c.185G>A	NM_000138.5	NP_000129.3:p.(Arg62His)	NC_000015.9:g.48905269C>T	VUS	1 lab	69e8d3ee0d
17:11865265 DNAH9 C>T	17	11865265	11865265	C	T	DNAH9	c.12925C>T	NM_001372.4	NP_001363.2:p.(Arg4309Ter)	NC_000017.10:g.11865265C>T	(Likely) pathogenic	1 lab	69e8f5d70e
19:13934296 ZSWIM4 A>G	19	13934296	13934296	A	G	ZSWIM4	c.2197A>G	NM_001367834.3	NP_001354763.1:p.(Met733Val)	NC_000019.9:g.13934296A>G	(Likely) benign	1 lab	69e9480b28
8:144998335 PLEC C>T	8	144998335	144998335	C	T	PLEC	c.5762G>A	NM_201384.3	NP_958786.1:p.(Arg1921Gln)	NC_000008.10:g.144998335C>T	VUS	1 lab	69e9522162
2:152422000 NEB A>C	2	152422000	152422000	A	C	NEB	c.18366+15T>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152422000A>C	(Likely) benign	1 lab	69e9603fc9
22:51160413 SHANK3 C>T	22	51160413	51160413	C	T	SHANK3	c.4377C>T	NM_001372044.2	NP_001358973.1:p.(Thr1459=)	NC_000022.10:g.51160413C>T	VUS	1 lab	69e9920f3c
12:417068 KDM5A A>C	12	417068	417068	A	C	KDM5A	c.3482T>G	NM_001042603.3	NP_001036068.1:p.(Val1161Gly)	NC_000012.11:g.417068A>C	VUS	1 lab	69e9c65fe4
1:152285020 FLG T>C	1	152285020	152285020	T	C	FLG	c.2342A>G	NM_002016.2	NP_002007.1:p.(Asp781Gly)	NC_000001.10:g.152285020T>C	(Likely) benign	1 lab	69e9e53b14
X:149105702 EOLA2 C>A	X	149105702	149105702	C	A	EOLA2	c.-210-4G>T	NM_001013845.2	NP_001013867.1:p.?	NC_000023.10:g.149105702C>A	(Likely) benign	1 lab	69ec496563
16:2815727 SRRM2 C>T	16	2815727	2815727	C	T	SRRM2	c.5198C>T	NM_016333.4	NP_057417.3:p.(Pro1733Leu)	NC_000016.9:g.2815727C>T	(Likely) benign	1 lab	69ee00c696
12:52585590 KRT80 T>A	12	52585590	52585590	T	A	KRT80	c.97A>T	NM_182507.3	NP_872313.2:p.(Ser33Cys)	NC_000012.11:g.52585590T>A	VUS	1 lab	69eea6ef6f
1:9784063 PIK3CD C>G	1	9784063	9784063	C	G	PIK3CD	c.2631C>G	NM_005026.5	NP_005017.3:p.(Leu877=)	NC_000001.10:g.9784063C>G	(Likely) benign	1 lab	69eed1406f
X:129149906 BCORL1 A>G	X	129149906	129149906	A	G	BCORL1	c.3158A>G	NM_001379451.1	NP_001366380.1:p.(Lys1053Arg)	NC_000023.10:g.129149906A>G	(Likely) benign	1 lab	69ef511e56
1:197102681 ASPM T>A	1	197102681	197102681	T	A	ASPM	c.2218A>T	NM_018136.5	NP_060606.3:p.(Ile740Leu)	NC_000001.10:g.197102681T>A	VUS	1 lab	69f0aaffad
8:6296557 MCPH1 A>C	8	6296557	6296557	A	C	MCPH1	c.520A>C	NM_024596.5	NP_078872.3:p.(Ser174Arg)	NC_000008.10:g.6296557A>C	VUS	1 lab	69f0b2a2cd
15:66996188 SMAD6 C>G	15	66996188	66996188	C	G	SMAD6	c.592C>G	NM_005585.5	NP_005576.3:p.(Arg198Gly)	NC_000015.9:g.66996188C>G	VUS	1 lab	69f11ad536
6:24278390 DCDC2 G>T	6	24278390	24278390	G	T	DCDC2	c.809C>A	NM_016356.5	NP_057440.2:p.(Ser270Tyr)	NC_000006.11:g.24278390G>T	VUS	1 lab	69f16b5c9e
13:32953549 BRCA2 G>C	13	32953549	32953549	G	C	BRCA2	c.8850G>C	NM_000059.4	NP_000050.3:p.(Lys2950Asn)	NC_000013.10:g.32953549G>C	(Likely) benign	1 lab	69f36ba991
1:52850387 ORC1 C>T	1	52850387	52850387	C	T	ORC1	c.1590G>A	NM_004153.4	NP_004144.2:p.(Met530Ile)	NC_000001.10:g.52850387C>T	VUS	1 lab	69f37696ba
5:139747455 SLC4A9 G>A	5	139747455	139747455	G	A	SLC4A9	c.2326G>A	NM_031467.3	NP_113655.2:p.(Gly776Arg)	NC_000005.9:g.139747455G>A	VUS	1 lab	69f39a3c50
4:187525592 FAT1 A>G	4	187525592	187525592	A	G	FAT1	c.10487T>C	NM_005245.4	NP_005236.2:p.(Val3496Ala)	NC_000004.11:g.187525592A>G	(Likely) benign	1 lab	2383648a76
19:51171252 SHANK1 C>A	19	51171252	51171252	C	A	SHANK1	c.3965G>T	NM_016148.5	NP_057232.2:p.(Gly1322Val)	NC_000019.9:g.51171252C>A	(Likely) benign	1 lab	69f50c6c55
3:101446269 CEP97 G>A	3	101446269	101446269	G	A	CEP97	c.229G>A	NM_024548.4	NP_078824.2:p.(Ala77Thr)	NC_000003.11:g.101446269G>A	VUS	1 lab	69f5a7c9b1
5:157181970 LSM11 T>C	5	157181970	157181970	T	C	LSM11	c.781T>C	NM_173491.4	NP_775762.1:p.(Leu261=)	NC_000005.9:g.157181970T>C	(Likely) benign	1 lab	23837841bd
22:18904484 PRODH A>G	22	18904484	18904484	A	G	PRODH	c.1445T>C	NM_016335.6	NP_057419.5:p.(Leu482Ser)	NC_000022.10:g.18904484A>G	(Likely) benign	1 lab	69f5d03bdb
22:28193084 MN1 T>A	22	28193084	28193084	T	A	MN1	c.3448A>T	NM_002430.3	NP_002421.3:p.(Ile1150Phe)	NC_000022.10:g.28193084T>A	VUS	1 lab	69f99fb826
1:47610471 CYP4A22 C>A	1	47610471	47610471	C	A	CYP4A22	c.1089-38C>A	NM_001010969.4	NP_001010969.2:p.?	NC_000001.10:g.47610471C>A	VUS	1 lab	69fad09bfc
20:34542364 SCAND1 G>A	20	34542364	34542364	G	A	SCAND1	c.-56+6C>T	NM_033630.3	NP_361012.3:p.?	NC_000020.10:g.34542364G>A	(Likely) benign	1 lab	69fadd78e9
10:124810587 ACADSB ACGTG>A	10	124810587	124810591	ACGTG	A	ACADSB	c.1014_1017del	NM_001609.4	NP_001600.1:p.(His338GlnfsTer11)	NC_000010.10:g.124810588_124810591del	VUS	1 lab	69fb2e16ba
15:65944033 SLC24A1 C>T	15	65944033	65944033	C	T	SLC24A1	c.2819C>T	NM_004727.3	NP_004718.1:p.(Thr940Ile)	NC_000015.9:g.65944033C>T	VUS	1 lab	69fbbbd7bc
2:160112894 WDSUB1 TAAAC>T	2	160112894	160112904	TAAAC	T	WDSUB1	c.953-12_953-9del	NM_001128212.3	NP_001121684.1:p.?	NC_000002.11:g.160112901_160112904del	(Likely) benign	1 lab	69fed0d8e9
7:128412709 CALU T>C	7	128412709	128412709	T	C	CALU	c.*3488T>C	NM_001219.5	NP_001210.1:p.?	NC_000007.13:g.128412709T>C	VUS	1 lab	6a00d5cc91
9:135946933 CEL C>A	9	135946933	135946933	C	A	CEL	c.2044C>A	NM_001807.6	NP_001798.3:p.(Pro682Thr)	NC_000009.11:g.135946933C>A	VUS	1 lab	6a00dc0c67
10:135107144 TUBGCP2 T>A	10	135107144	135107144	T	A	TUBGCP2	c.746A>T	NM_006659.4	NP_006650.1:p.(Asp249Val)	NC_000010.10:g.135107144T>A	VUS	1 lab	6a01367805
7:34125473 BMPER G>A	7	34125473	34125473	G	A	BMPER	c.1514G>A	NM_001365308.1	NP_001352237.1:p.(Arg505His)	NC_000007.13:g.34125473G>A	VUS	1 lab	6a02669631
3:47161854 SETD2 T>A	3	47161854	47161854	T	A	SETD2	c.4272A>T	NM_014159.7	NP_054878.5:p.(Arg1424Ser)	NC_000003.11:g.47161854T>A	VUS	1 lab	6a0482c857
14:75555174 NEK9 C>T	14	75555174	75555174	C	T	NEK9	c.2604+9G>A	NM_033116.6	NP_149107.4:p.?	NC_000014.8:g.75555174C>T	(Likely) benign	1 lab	6a059308e2
12:7173206 C1S T>TTG	12	7173206	7173208	T	TTG	C1S	c.804_805dup	NM_001734.5	NP_001725.1:p.(Asp269ValfsTer9)	NC_000012.11:g.7173207_7173208dup	VUS	1 lab	6a059c9323
15:33855175 RYR3 C>T	15	33855175	33855175	C	T	RYR3	c.1110C>T	NM_001036.6	NP_001027.3:p.(Asp370=)	NC_000015.9:g.33855175C>T	(Likely) benign	1 lab	6a0801ff0d
14:68274558 ZFYVE26 C>A	14	68274558	68274558	C	A	ZFYVE26	c.443G>T	NM_015346.4	NP_056161.2:p.(Arg148Leu)	NC_000014.8:g.68274558C>A	VUS	1 lab	6a0aa3f6e7
14:65251050 SPTB C>T	14	65251050	65251050	C	T	SPTB	c.3917G>A	NM_001355436.2	NP_001342365.1:p.(Arg1306Gln)	NC_000014.8:g.65251050C>T	VUS	1 lab	6a0c6f934e
20:47558420 ARFGEF2 C>T	20	47558420	47558420	C	T	ARFGEF2	c.172C>T	NM_006420.3	NP_006411.2:p.(Pro58Ser)	NC_000020.10:g.47558420C>T	(Likely) benign	1 lab	6a0e50f21b
8:28574087 EXTL3 C>G	8	28574087	28574087	C	G	EXTL3	c.511C>G	NM_001440.4	NP_001431.1:p.(Pro171Ala)	NC_000008.10:g.28574087C>G	VUS	1 lab	6a0f926ff0
1:6008176 NPHP4 G>A	1	6008176	6008176	G	A	NPHP4	c.946C>T	NM_015102.5	NP_055917.1:p.(Arg316Cys)	NC_000001.10:g.6008176G>A	VUS	1 lab	6a0fe8d8e8
5:94876500 SKIC3 C>T	5	94876500	94876500	C	T	SKIC3	c.437G>A	NM_014639.4	NP_055454.1:p.(Arg146Gln)	NC_000005.9:g.94876500C>T	VUS	1 lab	6a101b63b5
11:118245918 UBE4A G>A	11	118245918	118245918	G	A	UBE4A	c.1424G>A	NM_001204077.2	NP_001191006.1:p.(Arg475Gln)	NC_000011.9:g.118245918G>A	VUS	1 lab	6a109a2d48
19:8650552 ADAMTS10 A>C	19	8650552	8650552	A	C	ADAMTS10	c.2661-8T>G	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8650552A>C	(Likely) benign	1 lab	6a113cf6a0
14:29236952 FOXG1 A>G	14	29236952	29236952	A	G	FOXG1	c.467A>G	NM_005249.5	NP_005240.3:p.(Lys156Arg)	NC_000014.8:g.29236952A>G	VUS	1 lab	6a1185f5b1
11:65835612 SF3B2 T>C	11	65835612	65835612	T	C	SF3B2	c.2431-7T>C	NM_006842.3	NP_006833.2:p.?	NC_000011.9:g.65835612T>C	(Likely) benign	1 lab	6a126ae61e
20:49510014 ADNP A>G	20	49510014	49510014	A	G	ADNP	c.1237T>C	NM_001282531.3	NP_001269460.1:p.(Ser413Pro)	NC_000020.10:g.49510014A>G	(Likely) benign	1 lab	6a127404b6
5:14507385 TRIO G>A	5	14507385	14507385	G	A	TRIO	c.8751+16G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14507385G>A	(Likely) benign	1 lab	238c8aa5bd
16:2218173 TRAF7 G>A	16	2218173	2218173	G	A	TRAF7	c.231+4G>A	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2218173G>A	(Likely) benign	1 lab	6a12d0db07
19:42566705 GRIK5 G>A	19	42566705	42566705	G	A	GRIK5	c.443C>T	NM_002088.5	NP_002079.3:p.(Ala148Val)	NC_000019.9:g.42566705G>A	VUS	1 lab	6a13a1854f
X:107976936 IRS4 T>C	X	107976936	107976936	T	C	IRS4	c.2639A>G	NM_001379150.1	NP_001366079.1:p.(Glu880Gly)	NC_000023.10:g.107976936T>C	(Likely) benign	1 lab	6a141c27ca
6:35430581 FANCE GAGA>G	6	35430581	35430586	GAGA	G	FANCE	c.1402_1404del	NM_021922.3	NP_068741.1:p.(Lys468del)	NC_000006.11:g.35430584_35430586del	VUS	1 lab	6a1441919a
17:41209081 BRCA1 G>A	17	41209081	41209081	G	A	BRCA1	c.5265C>T	NM_007294.4	NP_009225.1:p.(Ser1755=)	NC_000017.10:g.41209081G>A	(Likely) benign	1 lab	6a15c9ff96
19:9017015 MUC16 A>G	19	9017015	9017015	A	G	MUC16	c.38166T>C	NM_001401501.2	NP_001388430.1:p.(Gly12722=)	NC_000019.9:g.9017015A>G	VUS	1 lab	6a17040880
20:4158171 SMOX G>A	20	4158171	4158171	G	A	SMOX	c.382G>A	NM_175839.3	NP_787033.1:p.(Gly128Ser)	NC_000020.10:g.4158171G>A	VUS	1 lab	6a18a444e6
16:2809041 SRRM2 A>C	16	2809041	2809041	A	C	SRRM2	c.649A>C	NM_016333.4	NP_057417.3:p.(Lys217Gln)	NC_000016.9:g.2809041A>C	VUS	1 lab	6a18a957e6
12:438123 KDM5A G>C	12	438123	438123	G	C	KDM5A	c.1846C>G	NM_001042603.3	NP_001036068.1:p.(Leu616Val)	NC_000012.11:g.438123G>C	VUS	1 lab	6a18b00657
5:78076369 ARSB G>C	5	78076369	78076369	G	C	ARSB	c.1453C>G	NM_000046.5	NP_000037.2:p.(His485Asp)	NC_000005.9:g.78076369G>C	VUS	1 lab	6a193194ee
4:6302557 WFS1 C>G	4	6302557	6302557	C	G	WFS1	c.1035C>G	NM_006005.3	NP_005996.2:p.(Ile345Met)	NC_000004.11:g.6302557C>G	VUS	1 lab	6a1a9ac8cd
16:2813639 SRRM2 C>G	16	2813639	2813639	C	G	SRRM2	c.3110C>G	NM_016333.4	NP_057417.3:p.(Ala1037Gly)	NC_000016.9:g.2813639C>G	(Likely) benign	1 lab	6a1ab832c3
16:71823575 AP1G1 A>G	16	71823575	71823575	A	G	AP1G1	c.-3-190T>C	NM_001128.6	NP_001119.3:p.?	NC_000016.9:g.71823575A>G	(Likely) benign	1 lab	6a1b647f71
11:116732107 SIK3 A>G	11	116732107	116732107	A	G	SIK3	c.2316-8T>C	NM_001366686.3	NP_001353615.1:p.?	NC_000011.9:g.116732107A>G	(Likely) benign	1 lab	6a1bc1c83c
16:230808 HBQ1 C>T	16	230808	230808	C	T	HBQ1	c.239C>T	NM_005331.5	NP_005322.1:p.(Ala80Val)	NC_000016.9:g.230808C>T	(Likely) benign	1 lab	6a1e0a41a8
6:143093271 HIVEP2 C>T	6	143093271	143093271	C	T	HIVEP2	c.2605G>A	NM_006734.4	NP_006725.3:p.(Val869Met)	NC_000006.11:g.143093271C>T	(Likely) benign	1 lab	6a1e0ff533
9:130420194 STXBP1 G>A	9	130420194	130420194	G	A	STXBP1	c.170-460G>A	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130420194G>A	(Likely) benign	1 lab	6a1edefee5
12:31245820 DDX11 G>A	12	31245820	31245820	G	A	DDX11	c.1283G>A	NM_030653.4	NP_085911.2:p.(Arg428Gln)	NC_000012.11:g.31245820G>A	(Likely) benign	1 lab	6a217b6713
2:179610888 TTN C>A	2	179610888	179610888	C	A	TTN	c.11312-4240G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179610888C>A	(Likely) benign	1 lab	6a21b043c1
19:50906822 POLD1 C>G	19	50906822	50906822	C	G	POLD1	c.1210C>G	NM_002691.4	NP_002682.2:p.(Pro404Ala)	NC_000019.9:g.50906822C>G	VUS	1 lab	6a22229c26
5:154275912 GEMIN5 C>T	5	154275912	154275912	C	T	GEMIN5	c.3346-9G>A	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154275912C>T	(Likely) benign	1 lab	6a225962b8
18:43480959 EPG5 A>G	18	43480959	43480959	A	G	EPG5	c.4646+2T>C	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43480959A>G	(Likely) pathogenic	1 lab	6a23c30eaf
2:219483526 PLCD4 G>C	2	219483526	219483526	G	C	PLCD4	c.406G>C	NM_032726.4	NP_116115.1:p.(Asp136His)	NC_000002.11:g.219483526G>C	VUS	1 lab	6a240e43a3
15:90168171 TICRR C>T	15	90168171	90168171	C	T	TICRR	c.4630C>T	NM_152259.4	NP_689472.3:p.(Pro1544Ser)	NC_000015.9:g.90168171C>T	(Likely) benign	1 lab	6a2635d502
1:27022856 ARID1A A>G	1	27022856	27022856	A	G	ARID1A	c.-39A>G	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27022856A>G	(Likely) benign	1 lab	6a27818199
X:118109164 LONRF3 ACGGGGGCCGCCGCGG>A	X	118109164	118109180	ACGGGGGCCGCCGCGG	A	LONRF3	c.423_437del	NM_001031855.3	NP_001027026.1:p.(Gly142_Ala146del)	NC_000023.10:g.118109166_118109180del	VUS	1 lab	6a278e1ac0
20:50408395 SALL4 G>C	20	50408395	50408395	G	C	SALL4	c.627C>G	NM_020436.5	NP_065169.1:p.(Asn209Lys)	NC_000020.10:g.50408395G>C	VUS	1 lab	6a27e1b628
X:152957011 SLC6A8 G>A	X	152957011	152957011	G	A	SLC6A8	c.644+3G>A	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152957011G>A	(Likely) benign	1 lab	6a2804f9b9
8:145739484 RECQL4 C>T	8	145739484	145739484	C	T	RECQL4	c.1886G>A	NM_004260.4	NP_004251.4:p.(Arg629Gln)	NC_000008.10:g.145739484C>T	VUS	1 lab	6a28a32eb4
16:18540820 NOMO2 T>C	16	18540820	18540820	T	C	NOMO2	c.1806+3A>G	NM_173614.4	NP_775885.1:p.?	NC_000016.9:g.18540820T>C	(Likely) benign	1 lab	6a28cce280
9:35807327 NPR2 G>A	9	35807327	35807327	G	A	NPR2	c.2644G>A	NM_003995.4	NP_003986.2:p.(Val882Ile)	NC_000009.11:g.35807327G>A	VUS	1 lab	6a2a261d81
15:50926763 TRPM7 G>A	15	50926763	50926763	G	A	TRPM7	c.833-10C>T	NM_017672.6	NP_060142.3:p.?	NC_000015.9:g.50926763G>A	(Likely) benign	1 lab	6a2ad33429
14:64653238 SYNE2 A>T	14	64653238	64653238	A	T	SYNE2	c.17653A>T	NM_182914.3	NP_878918.2:p.(Met5885Leu)	NC_000014.8:g.64653238A>T	(Likely) benign	1 lab	6a2b1bd447
6:17601157 FAM8A1 AACCCCTTCTACTTCCTGAGCCCCGGGGCCGCGG>A	6	17601157	17601190	AACCCCTTCTACTTCCTGAGCCCCGGGGCCGCGG	A	FAM8A1	c.518_550del	NM_016255.3	NP_057339.1:p.(Asn173_Gly184delinsArg)	NC_000006.11:g.17601158_17601190del	(Likely) benign	1 lab	6a2bd0d783
1:147380488 GJA8 A>G	1	147380488	147380488	A	G	GJA8	c.406A>G	NM_005267.5	NP_005258.2:p.(Lys136Glu)	NC_000001.10:g.147380488A>G	VUS	1 lab	6a2c94f104
13:111158967 COL4A2 A>C	13	111158967	111158967	A	C	COL4A2	c.4594+14A>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111158967A>C	(Likely) benign	1 lab	6a2d0d1aaa
12:49448696 KMT2D G>A	12	49448696	49448696	G	A	KMT2D	c.163C>T	NM_003482.4	NP_003473.3:p.(Pro55Ser)	NC_000012.11:g.49448696G>A	(Likely) benign	1 lab	6a2daff79e
2:100217924 AFF3 G>A	2	100217924	100217924	G	A	AFF3	c.1344C>T	NM_001386135.1	NP_001373064.1:p.(Ser448=)	NC_000002.11:g.100217924G>A	VUS	1 lab	6a2decf6a3
7:147183140 CNTNAP2 G>A	7	147183140	147183140	G	A	CNTNAP2	c.1777+7G>A	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147183140G>A	(Likely) benign	1 lab	6a304f2436
1:152276762 FLG T>A	1	152276762	152276762	T	A	FLG	c.10600A>T	NM_002016.2	NP_002007.1:p.(Asn3534Tyr)	NC_000001.10:g.152276762T>A	VUS	1 lab	6a316bb482
21:47558498 FTCD T>TC	21	47558498	47558500	T	TC	FTCD	c.1366dup	NM_206965.2	NP_996848.1:p.(Glu456GlyfsTer56)	NC_000021.8:g.47558500dup	(Likely) pathogenic	1 lab	6a31f66736
16:46716030 VPS35 G>A	16	46716030	46716030	G	A	VPS35	c.160C>T	NM_018206.6	NP_060676.2:p.(Arg54Trp)	NC_000016.9:g.46716030G>A	VUS	1 lab	6ac7789d19
19:11168942 SMARCA4 G>A	19	11168942	11168942	G	A	SMARCA4	c.4436G>A	NM_003072.5	NP_003063.2:p.(Arg1479His)	NC_000019.9:g.11168942G>A	VUS	1 lab	6a321e3c45
21:46057501 TSPEAR C>T	21	46057501	46057501	C	T	TSPEAR	c.83-69612G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46057501C>T	VUS	1 lab	6a32516632
2:220332162 SPEG T>C	2	220332162	220332162	T	C	SPEG	c.3142+6T>C	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220332162T>C	(Likely) benign	1 lab	6a32caace9
8:110492328 PKHD1L1 A>C	8	110492328	110492328	A	C	PKHD1L1	c.9287A>C	NM_177531.6	NP_803875.2:p.(Tyr3096Ser)	NC_000008.10:g.110492328A>C	(Likely) benign	1 lab	6a3438eb0d
6:88304131 ORC3 G>T	6	88304131	88304131	G	T	ORC3	c.79+6G>T	NM_012381.4	NP_036513.2:p.?	NC_000006.11:g.88304131G>T	(Likely) benign	1 lab	6a34517ace
7:42012036 GLI3 G>A	7	42012036	42012036	G	A	GLI3	c.2003C>T	NM_000168.6	NP_000159.3:p.(Pro668Leu)	NC_000007.13:g.42012036G>A	(Likely) benign	1 lab	6a3550de42
2:129026007 HS6ST1 G>A	2	129026007	129026007	G	A	HS6ST1	c.965C>T	NM_004807.3	NP_004798.3:p.(Thr322Met)	NC_000002.11:g.129026007G>A	VUS	1 lab	6a3709d096
10:95276973 CEP55 G>A	10	95276973	95276973	G	A	CEP55	c.961G>A	NM_001127182.2	NP_001120654.2:p.(Glu321Lys)	NC_000010.10:g.95276973G>A	(Likely) benign	1 lab	238d73fd8f
11:85956110 EED C>T	11	85956110	85956110	C	T	EED	c.-162C>T	NM_003797.5	NP_003788.2:p.?	NC_000011.9:g.85956110C>T	VUS	1 lab	6a3eeb0945
10:11367912 CELF2 GACAA>G	10	11367912	11367919	GACAA	G	CELF2	c.1412_1415del	NM_001326342.2	NP_001313271.1:p.(Lys471ArgfsTer4)	NC_000010.10:g.11367916_11367919del	VUS	1 lab	6a3f08c15f
12:49717507 TROAP C>A	12	49717507	49717507	C	A	TROAP	c.116C>A	NM_005480.4	NP_005471.3:p.(Ala39Asp)	NC_000012.11:g.49717507C>A	VUS	1 lab	6a3f287c0f
4:144465880 SMARCA5 C>T	4	144465880	144465880	C	T	SMARCA5	c.2173-10C>T	NM_003601.4	NP_003592.3:p.?	NC_000004.11:g.144465880C>T	(Likely) benign	1 lab	6a5e273f96
3:197497044 FYTTD1 C>G	3	197497044	197497044	C	G	FYTTD1	c.426C>G	NM_032288.7	NP_115664.2:p.(Asn142Lys)	NC_000003.11:g.197497044C>G	VUS	1 lab	6a3fdb243f
7:142575766 TRPV6 G>A	7	142575766	142575766	G	A	TRPV6	c.262C>T	NM_018646.6	NP_061116.5:p.(Pro88Ser)	NC_000007.13:g.142575766G>A	VUS	1 lab	6a41561df9
15:91542967 VPS33B A>C	15	91542967	91542967	A	C	VPS33B	c.1714T>G	NM_018668.5	NP_061138.3:p.(Phe572Val)	NC_000015.9:g.91542967A>C	VUS	1 lab	6a41c2a77f
16:72091311 HP A>G	16	72091311	72091311	A	G	HP	c.211A>G	NM_005143.5	NP_005134.1:p.(Lys71Glu)	NC_000016.9:g.72091311A>G	(Likely) benign	1 lab	6a443f9bee
X:108906638 ACSL4 A>G	X	108906638	108906638	A	G	ACSL4	c.1391-7T>C	NM_001318510.2	NP_001305439.1:p.?	NC_000023.10:g.108906638A>G	VUS	1 lab	6a463d1aa7
2:46839434 PIGF T>C	2	46839434	46839434	T	C	PIGF	c.370A>G	NM_002643.4	NP_002634.1:p.(Thr124Ala)	NC_000002.11:g.46839434T>C	(Likely) benign	1 lab	6a4bcb7a74
5:168175324 SLIT3 G>T	5	168175324	168175324	G	T	SLIT3	c.2253C>A	NM_003062.4	NP_003053.2:p.(Pro751=)	NC_000005.9:g.168175324G>T	(Likely) benign	1 lab	6a4cabc9d3
X:24329890 SUPT20HL2 G>GCAGC	X	24329890	24329891	G	GCAGC	SUPT20HL2	c.1542_1543insGCTG	NM_001136233.3	NP_001129705.3:p.(Pro515AlafsTer30)	NC_000023.10:g.24329890_24329891insCAGC	(Likely) benign	1 lab	6a4d0a6a58
19:47571053 ZC3H4 C>G	19	47571053	47571053	C	G	ZC3H4	c.2472G>C	NM_015168.2	NP_055983.1:p.(Leu824Phe)	NC_000019.9:g.47571053C>G	VUS	1 lab	6a4ec54cd7
13:101179957 PCCA T>C	13	101179957	101179957	T	C	PCCA	c.2069T>C	NM_000282.4	NP_000273.2:p.(Ile690Thr)	NC_000013.10:g.101179957T>C	VUS	1 lab	6a4ed8a4d5
10:27447547 MASTL G>C	10	27447547	27447547	G	C	MASTL	c.256G>C	NM_001172303.3	NP_001165774.1:p.(Ala86Pro)	NC_000010.10:g.27447547G>C	VUS	1 lab	6a4ef20dd6
22:24041044 RGL4 TGCCAGC>T	22	24041044	24041050	TGCCAGC	T	RGL4	c.1397_1402del	NM_153615.2	NP_705843.1:p.(Cys466_Gln467del)	NC_000022.10:g.24041045_24041050del	VUS	1 lab	6a50e1d3ca
1:22211287 HSPG2 C>T	1	22211287	22211287	C	T	HSPG2	c.1480G>A	NM_005529.7	NP_005520.4:p.(Gly494Ser)	NC_000001.10:g.22211287C>T	(Likely) benign	1 lab	6a5221a8b5
11:61551764 MYRF C>T	11	61551764	61551764	C	T	MYRF	c.3207C>T	NM_001127392.3	NP_001120864.1:p.(Pro1069=)	NC_000011.9:g.61551764C>T	(Likely) benign	1 lab	6a5305ea01
11:46910964 LRP4 T>G	11	46910964	46910964	T	G	LRP4	c.2213A>C	NM_002334.4	NP_002325.2:p.(Gln738Pro)	NC_000011.9:g.46910964T>G	VUS	1 lab	6a55242ff6
3:9990598 PRRT3 C>T	3	9990598	9990598	C	T	PRRT3	c.1016-1G>A	NM_207351.5	NP_997234.3:p.?	NC_000003.11:g.9990598C>T	VUS	1 lab	6a553e77d0
19:15302963 NOTCH3 G>A	19	15302963	15302963	G	A	NOTCH3	c.487C>T	NM_000435.3	NP_000426.2:p.(Arg163Trp)	NC_000019.9:g.15302963G>A	(Likely) benign	1 lab	6a559b26d0
14:19574352 POTEG G>A	14	19574352	19574352	G	A	POTEG	c.1409G>A	NM_001005356.3	NP_001005356.1:p.(Ser470Asn)	NC_000014.8:g.19574352G>A	(Likely) benign	1 lab	6a6556c213
22:42606844 TCF20 T>C	22	42606844	42606844	T	C	TCF20	c.4468A>G	NM_001378418.1	NP_001365347.1:p.(Ile1490Val)	NC_000022.10:g.42606844T>C	(Likely) benign	1 lab	6a57aeee4d
8:141370283 TRAPPC9 C>T	8	141370283	141370283	C	T	TRAPPC9	c.1361G>A	NM_001160372.4	NP_001153844.1:p.(Arg454Lys)	NC_000008.10:g.141370283C>T	VUS	1 lab	6a59662a6b
4:126328089 FAT4 C>T	4	126328089	126328089	C	T	FAT4	c.5362C>T	NM_001291303.3	NP_001278232.1:p.(Arg1788Cys)	NC_000004.11:g.126328089C>T	VUS	1 lab	6a5a1cd7b4
7:73969563 GTF2IRD1 G>A	7	73969563	73969563	G	A	GTF2IRD1	c.1966+10G>A	NM_005685.4	NP_005676.3:p.?	NC_000007.13:g.73969563G>A	(Likely) benign	1 lab	6a5af58427
17:40695711 NAGLU C>T	17	40695711	40695711	C	T	NAGLU	c.1687C>T	NM_000263.4	NP_000254.2:p.(Leu563Phe)	NC_000017.10:g.40695711C>T	VUS	1 lab	6a5cbc0454
6:143091622 HIVEP2 T>G	6	143091622	143091622	T	G	HIVEP2	c.4254A>C	NM_006734.4	NP_006725.3:p.(Glu1418Asp)	NC_000006.11:g.143091622T>G	(Likely) benign	1 lab	6a5cd6e0eb
4:1806599 FGFR3 C>T	4	1806599	1806599	C	T	FGFR3	c.1315C>T	NM_000142.5	NP_000133.1:p.(Arg439Cys)	NC_000004.11:g.1806599C>T	VUS	1 lab	6b43e19f4d
15:49048617 CEP152 T>C	15	49048617	49048617	T	C	CEP152	c.2828A>G	NM_001194998.2	NP_001181927.1:p.(Glu943Gly)	NC_000015.9:g.49048617T>C	VUS	1 lab	6a5dd2fa8b
11:103194620 DYNC2H1 C>T	11	103194620	103194620	C	T	DYNC2H1	c.11941C>T	NM_001377.3	NP_001368.2:p.(Arg3981Cys)	NC_000011.9:g.103194620C>T	VUS	1 lab	6a5de6a968
4:178363492 AGA G>C	4	178363492	178363492	G	C	AGA	c.38C>G	NM_000027.4	NP_000018.2:p.(Pro13Arg)	NC_000004.11:g.178363492G>C	(Likely) benign	1 lab	6a5ed70832
11:17409509 KCNJ11 C>T	11	17409509	17409509	C	T	KCNJ11	c.130G>A	NM_000525.4	NP_000516.3:p.(Val44Met)	NC_000011.9:g.17409509C>T	VUS	1 lab	6a5fb7bf74
20:44637679 MMP9 T>A	20	44637679	44637679	T	A	MMP9	c.114T>A	NM_004994.3	NP_004985.2:p.(Asn38Lys)	NC_000020.10:g.44637679T>A	(Likely) benign	1 lab	6a5fe49149
13:111077051 COL4A2 G>A	13	111077051	111077051	G	A	COL4A2	c.181-30G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077051G>A	(Likely) benign	1 lab	6a61ec751d
3:134256046 CEP63 A>G	3	134256046	134256046	A	G	CEP63	c.491A>G	NM_001353108.3	NP_001340037.1:p.(Gln164Arg)	NC_000003.11:g.134256046A>G	VUS	1 lab	6a6269e312
5:147484505 SPINK5 T>G	5	147484505	147484505	T	G	SPINK5	c.1431-10T>G	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147484505T>G	(Likely) benign	1 lab	6a62e491a3
9:109685701 ZNF462 G>A	9	109685701	109685701	G	A	ZNF462	c.37G>A	NM_021224.6	NP_067047.4:p.(Ala13Thr)	NC_000009.11:g.109685701G>A	(Likely) benign	1 lab	6a632496f2
6:152614805 SYNE1 G>A	6	152614805	152614805	G	A	SYNE1	c.17930C>T	NM_182961.4	NP_892006.3:p.(Thr5977Met)	NC_000006.11:g.152614805G>A	VUS	1 lab	6a666cdaaf
16:4748851 ANKS3 C>T	16	4748851	4748851	C	T	ANKS3	c.1501G>A	NM_133450.4	NP_597707.1:p.(Ala501Thr)	NC_000016.9:g.4748851C>T	VUS	1 lab	6a67480d19
2:55873456 PNPT1 G>C	2	55873456	55873456	G	C	PNPT1	c.1676C>G	NM_033109.5	NP_149100.2:p.(Ala559Gly)	NC_000002.11:g.55873456G>C	VUS	1 lab	6a6ba6e349
1:6212569 CHD5 C>G	1	6212569	6212569	C	G	CHD5	c.773G>C	NM_015557.3	NP_056372.1:p.(Gly258Ala)	NC_000001.10:g.6212569C>G	(Likely) benign	1 lab	6a6e1e9e68
X:69606544 KIF4A C>T	X	69606544	69606544	C	T	KIF4A	c.2111C>T	NM_012310.5	NP_036442.3:p.(Thr704Met)	NC_000023.10:g.69606544C>T	(Likely) benign	1 lab	6a6e6cfe74
16:88901686 GALNS G>A	16	88901686	88901686	G	A	GALNS	c.833C>T	NM_000512.5	NP_000503.1:p.(Ala278Val)	NC_000016.9:g.88901686G>A	(Likely) benign	1 lab	6a6eb6130a
10:96540292 CYP2C19 C>T	10	96540292	96540292	C	T	CYP2C19	c.518C>T	NM_000769.4	NP_000760.1:p.(Ala173Val)	NC_000010.10:g.96540292C>T	VUS	1 lab	6a6ed9fc8a
15:28479289 HERC2 C>T	15	28479289	28479289	C	T	HERC2	c.4145G>A	NM_004667.6	NP_004658.3:p.(Arg1382Gln)	NC_000015.9:g.28479289C>T	VUS	1 lab	6a6ee1710f
2:127808491 BIN1 G>A	2	127808491	127808491	G	A	BIN1	c.1462-3C>T	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127808491G>A	(Likely) benign	1 lab	6a6fe268d2
19:41916609 BCKDHA C>T	19	41916609	41916609	C	T	BCKDHA	c.176C>T	NM_000709.4	NP_000700.1:p.(Ala59Val)	NC_000019.9:g.41916609C>T	VUS	1 lab	6a70048f22
11:299436 IFITM5 C>T	11	299436	299436	C	T	IFITM5	c.55G>A	NM_001025295.3	NP_001020466.1:p.(Gly19Ser)	NC_000011.9:g.299436C>T	(Likely) benign	1 lab	6a704fea06
1:197097666 ASPM C>T	1	197097666	197097666	C	T	ASPM	c.2890G>A	NM_018136.5	NP_060606.3:p.(Ala964Thr)	NC_000001.10:g.197097666C>T	VUS	1 lab	6a71389780
14:92537379 ATXN3 T>C	14	92537379	92537379	T	C	ATXN3	c.406A>G	NM_001164778.2	NP_001158250.1:p.(Thr136Ala)	NC_000014.8:g.92537379T>C	(Likely) benign	1 lab	2391732253
X:153278037 IRAK1 G>T	X	153278037	153278037	G	T	IRAK1	c.2023C>A	NM_001569.4	NP_001560.2:p.(Leu675Met)	NC_000023.10:g.153278037G>T	(Likely) benign	1 lab	6a7189b00a
19:48997179 LMTK3 GTCC>G	19	48997179	48997190	GTCC	G	LMTK3	c.3861_3863del	NM_001388485.1	NP_001375414.1:p.(Glu1287del)	NC_000019.9:g.48997188_48997190del	VUS	1 lab	6a7313e58e
22:24919647 UPB1 G>A	22	24919647	24919647	G	A	UPB1	c.977G>A	NM_016327.3	NP_057411.1:p.(Arg326Gln)	NC_000022.10:g.24919647G>A	(Likely) pathogenic	1 lab	6a74c8d0d8
11:108196827 ATM G>T	11	108196827	108196827	G	T	ATM	c.6850G>T	NM_000051.4	NP_000042.3:p.(Val2284Phe)	NC_000011.9:g.108196827G>T	VUS	1 lab	6a7700341a
17:76567810 DNAH17 G>A	17	76567810	76567810	G	A	DNAH17	c.594C>T	NM_173628.4	NP_775899.3:p.(Ile198=)	NC_000017.10:g.76567810G>A	(Likely) benign	1 lab	6a77388ecb
5:60821696 ZSWIM6 A>T	5	60821696	60821696	A	T	ZSWIM6	c.1583A>T	NM_020928.2	NP_065979.1:p.(Asp528Val)	NC_000005.9:g.60821696A>T	VUS	1 lab	6a77693dcd
12:80199421 PPP1R12A T>C	12	80199421	80199421	T	C	PPP1R12A	c.1951A>G	NM_002480.3	NP_002471.1:p.(Thr651Ala)	NC_000012.11:g.80199421T>C	(Likely) benign	1 lab	6a7a506736
X:66765158 AR T>TGCTGCAGCAGCA	X	66765158	66765161	T	TGCTGCAGCAGCA	AR	c.172_173insTGCAGCAGCAGC	NM_000044.6	NP_000035.2:p.(Leu57_Gln58insLeuGlnGlnGln)	NC_000023.10:g.66765160_66765161insTGCAGCAGCAGC	VUS	1 lab	6a7b03e371
12:133151131 FBRSL1 G>A	12	133151131	133151131	G	A	FBRSL1	c.1682G>A	NM_001367871.1	NP_001354800.1:p.(Arg561His)	NC_000012.11:g.133151131G>A	(Likely) benign	1 lab	6a7bf9b1be
19:39229119 CAPN12 G>T	19	39229119	39229119	G	T	CAPN12	c.829C>A	NM_144691.4	NP_653292.2:p.(Arg277=)	NC_000019.9:g.39229119G>T	VUS	1 lab	6a7c687b75
12:124285914 DNAH10 A>G	12	124285914	124285914	A	G	DNAH10	c.2549A>G	NM_001372106.1	NP_001359035.1:p.(Asp850Gly)	NC_000012.11:g.124285914A>G	(Likely) benign	1 lab	6a7cc08268
2:15427225 NBAS G>A	2	15427225	15427225	G	A	NBAS	c.5110C>T	NM_015909.4	NP_056993.2:p.(His1704Tyr)	NC_000002.11:g.15427225G>A	VUS	1 lab	6a7e3c4668
19:36224309 KMT2B C>T	19	36224309	36224309	C	T	KMT2B	c.6859C>T	NM_014727.3	NP_055542.1:p.(Arg2287Trp)	NC_000019.9:g.36224309C>T	(Likely) benign	1 lab	6a805061df
4:175229888 CEP44 A>G	4	175229888	175229888	A	G	CEP44	c.556A>G	NM_001040157.3	NP_001035247.1:p.(Ile186Val)	NC_000004.11:g.175229888A>G	VUS	1 lab	6a811df0ae
1:160459989 SLAMF6 G>A	1	160459989	160459989	G	A	SLAMF6	c.795C>T	NM_001184714.2	NP_001171643.1:p.(Pro265=)	NC_000001.10:g.160459989G>A	(Likely) benign	1 lab	6a8136764f
22:19754255 TBX1 T>G	22	19754255	19754255	T	G	TBX1	c.1380T>G	NM_001379200.1	NP_001366129.1:p.(His460Gln)	NC_000022.10:g.19754255T>G	(Likely) benign	1 lab	6a81624cf6
4:1801143 FGFR3 C>T	4	1801143	1801143	C	T	FGFR3	c.272C>T	NM_000142.5	NP_000133.1:p.(Pro91Leu)	NC_000004.11:g.1801143C>T	(Likely) benign	1 lab	6a816e099f
18:59774096 PIGN G>A	18	59774096	59774096	G	A	PIGN	c.1693C>T	NM_176787.5	NP_789744.1:p.(Arg565Cys)	NC_000018.9:g.59774096G>A	VUS	1 lab	6a82e85749
19:47882959 DHX34 T>C	19	47882959	47882959	T	C	DHX34	c.2707-8T>C	NM_014681.6	NP_055496.2:p.?	NC_000019.9:g.47882959T>C	VUS	1 lab	6a83542e05
1:26582192 CEP85 G>T	1	26582192	26582192	G	T	CEP85	c.739G>T	NM_001319944.2	NP_001306873.1:p.(Val247Phe)	NC_000001.10:g.26582192G>T	(Likely) benign	1 lab	6a84f35a2f
1:200534211 KIF14 G>C	1	200534211	200534211	G	C	KIF14	c.4057C>G	NM_014875.3	NP_055690.1:p.(Gln1353Glu)	NC_000001.10:g.200534211G>C	VUS	1 lab	6a850dc488
3:126741138 PLXNA1 G>A	3	126741138	126741138	G	A	PLXNA1	c.4249G>A	NM_032242.4	NP_115618.3:p.(Glu1417Lys)	NC_000003.11:g.126741138G>A	(Likely) benign	1 lab	6a873778c9
8:20075724 ATP6V1B2 G>A	8	20075724	20075724	G	A	ATP6V1B2	c.1327G>A	NM_001693.4	NP_001684.2:p.(Ala443Thr)	NC_000008.10:g.20075724G>A	VUS	1 lab	6a87455e6a
6:142740982 ADGRG6 A>G	6	142740982	142740982	A	G	ADGRG6	c.3060A>G	NM_198569.3	NP_940971.2:p.(Ile1020Met)	NC_000006.11:g.142740982A>G	VUS	1 lab	6a8813558f
1:152191902 HRNR G>C	1	152191902	152191902	G	C	HRNR	c.2203C>G	NM_001009931.3	NP_001009931.1:p.(Gln735Glu)	NC_000001.10:g.152191902G>C	(Likely) benign	1 lab	6a89c4498b
11:118375405 KMT2A ATCTG>A	11	118375405	118375416	ATCTG	A	KMT2A	c.8806_8809del	NM_001197104.2	NP_001184033.1:p.(Val2936Ter)	NC_000011.9:g.118375413_118375416del	VUS	1 lab	6a89c602b8
1:231401164 GNPAT C>T	1	231401164	231401164	C	T	GNPAT	c.694C>T	NM_014236.4	NP_055051.1:p.(Arg232Trp)	NC_000001.10:g.231401164C>T	VUS	1 lab	6a8fd201ba
10:114912104 TCF7L2 T>TC	10	114912104	114912106	T	TC	TCF7L2	c.1176dup	NM_001367943.1	NP_001354872.1:p.(Arg393GlnfsTer30)	NC_000010.10:g.114912106dup	(Likely) pathogenic	1 lab	6a90ad2956
17:56382957 TSPOAP1 T>C	17	56382957	56382957	T	C	TSPOAP1	c.5305A>G	NM_004758.4	NP_004749.2:p.(Met1769Val)	NC_000017.10:g.56382957T>C	VUS	1 lab	222d5b22db
15:75676667 SIN3A G>A	15	75676667	75676667	G	A	SIN3A	c.3133C>T	NM_001145358.2	NP_001138830.1:p.(Leu1045Phe)	NC_000015.9:g.75676667G>A	(Likely) benign	1 lab	6a9441cff4
X:153599528 FLNA G>GTA	X	153599528	153599529	G	GTA	FLNA	c.85_86insTA	NM_001110556.2	NP_001104026.1:p.(Pro29LeufsTer30)	NC_000023.10:g.153599528_153599529insTA	VUS	1 lab	6a94526d9b
3:140401999 TRIM42 C>T	3	140401999	140401999	C	T	TRIM42	c.1037C>T	NM_152616.5	NP_689829.3:p.(Ala346Val)	NC_000003.11:g.140401999C>T	VUS	1 lab	6a946de93e
5:145252209 GRXCR2 G>A	5	145252209	145252209	G	A	GRXCR2	c.323C>T	NM_001080516.2	NP_001073985.1:p.(Ala108Val)	NC_000005.9:g.145252209G>A	VUS	1 lab	6a94d78890
7:44192928 GCK G>C	7	44192928	44192928	G	C	GCK	c.180C>G	NM_000162.5	NP_000153.1:p.(Thr60=)	NC_000007.13:g.44192928G>C	VUS	1 lab	6a95460f28
9:139908448 ABCA2 C>T	9	139908448	139908448	C	T	ABCA2	c.4283G>A	NM_001606.5	NP_001597.2:p.(Arg1428His)	NC_000009.11:g.139908448C>T	VUS	1 lab	6a986ca3b3
12:58125252 AGAP2 C>T	12	58125252	58125252	C	T	AGAP2	c.2042G>A	NM_001122772.3	NP_001116244.1:p.(Ser681Asn)	NC_000012.11:g.58125252C>T	VUS	1 lab	6a99e9af2f
2:20166496 WDR35 T>A	2	20166496	20166496	T	A	WDR35	c.1183A>T	NM_020779.4	NP_065830.2:p.(Asn395Tyr)	NC_000002.11:g.20166496T>A	(Likely) benign	1 lab	6a9a3e174c
17:80207454 CSNK1D C>T	17	80207454	80207454	C	T	CSNK1D	c.910G>A	NM_001893.6	NP_001884.2:p.(Ala304Thr)	NC_000017.10:g.80207454C>T	(Likely) benign	1 lab	6a9a851cbf
X:48823233 KCND1 T>C	X	48823233	48823233	T	C	KCND1	c.1303A>G	NM_004979.6	NP_004970.3:p.(Ile435Val)	NC_000023.10:g.48823233T>C	VUS	1 lab	6a9aa9ca0d
X:151129830 GABRE T>C	X	151129830	151129830	T	C	GABRE	c.571A>G	NM_004961.4	NP_004952.2:p.(Ile191Val)	NC_000023.10:g.151129830T>C	VUS	1 lab	6a9b036ecd
9:130491894 TTC16 C>T	9	130491894	130491894	C	T	TTC16	c.1799C>T	NM_144965.3	NP_659402.1:p.(Ala600Val)	NC_000009.11:g.130491894C>T	VUS	1 lab	6a9b9824a6
18:31320033 ASXL3 G>A	18	31320033	31320033	G	A	ASXL3	c.2665G>A	NM_030632.3	NP_085135.1:p.(Gly889Arg)	NC_000018.9:g.31320033G>A	VUS	1 lab	6a9de5d5ae
16:89616953 SPG7 C>T	16	89616953	89616953	C	T	SPG7	c.1715C>T	NM_003119.4	NP_003110.1:p.(Ala572Val)	NC_000016.9:g.89616953C>T	(Likely) pathogenic	1 lab	6a9fcd91bd
1:60499192 C1orf87 G>T	1	60499192	60499192	G	T	C1orf87	c.985C>A	NM_152377.3	NP_689590.1:p.(Arg329=)	NC_000001.10:g.60499192G>T	(Likely) benign	1 lab	6aa0fed3b6
11:108139113 ATM TTAA>T	11	108139113	108139117	TTAA	T	ATM	c.2639-22_2639-20del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139115_108139117del	(Likely) pathogenic	1 lab	222fb04a3d
7:104748055 KMT2E A>G	7	104748055	104748055	A	G	KMT2E	c.3151A>G	NM_182931.3	NP_891847.1:p.(Ser1051Gly)	NC_000007.13:g.104748055A>G	(Likely) benign	1 lab	6aa1731849
3:126218903 UROC1 C>T	3	126218903	126218903	C	T	UROC1	c.1240G>A	NM_144639.3	NP_653240.1:p.(Ala414Thr)	NC_000003.11:g.126218903C>T	VUS	1 lab	6aa196d966
7:127975992 RBM28 C>G	7	127975992	127975992	C	G	RBM28	c.718G>C	NM_018077.3	NP_060547.2:p.(Asp240His)	NC_000007.13:g.127975992C>G	VUS	1 lab	6aa2477aff
15:65946173 SLC24A1 C>A	15	65946173	65946173	C	A	SLC24A1	c.3056C>A	NM_004727.3	NP_004718.1:p.(Pro1019His)	NC_000015.9:g.65946173C>A	VUS	1 lab	6aa309ca7e
2:179315141 PRKRA G>GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACATGGCGAGAAGGGACGGCT	2	179315141	179315142	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACATGGCGAGAAGGGACGGCT	PRKRA	c.66-4_66-3insAGCCGTCCCTTCTCGCCATGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179315141_179315142insAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACATGGCGAGAAGGGACGGCT	VUS	1 lab	6aa30cb7d3
19:7267351 INSR C>T	19	7267351	7267351	C	T	INSR	c.652+5G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7267351C>T	VUS	1 lab	6aa42ec968
8:116631555 TRPS1 C>G	8	116631555	116631555	C	G	TRPS1	c.770G>C	NM_014112.5	NP_054831.2:p.(Arg257Pro)	NC_000008.10:g.116631555C>G	(Likely) benign	1 lab	6aa6452991
2:231050715 SP110 A>G	2	231050715	231050715	A	G	SP110	c.1274T>C	NM_080424.4	NP_536349.3:p.(Leu425Ser)	NC_000002.11:g.231050715A>G	(Likely) benign	1 lab	223263a111
19:7619501 PNPLA6 A>T	19	7619501	7619501	A	T	PNPLA6	c.2526A>T	NM_001166114.2	NP_001159586.1:p.(Val842=)	NC_000019.9:g.7619501A>T	VUS	1 lab	6aa74bffe1
8:41591274 ANK1 G>A	8	41591274	41591274	G	A	ANK1	c.327+215C>T	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41591274G>A	(Likely) benign	1 lab	2395d59f2d
7:151933333 KMT2C A>G	7	151933333	151933333	A	G	KMT2C	c.2653-315T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151933333A>G	(Likely) benign	1 lab	6aaae94364
4:103557077 MANBA G>C	4	103557077	103557077	G	C	MANBA	c.2102C>G	NM_005908.4	NP_005899.3:p.(Thr701Arg)	NC_000004.11:g.103557077G>C	(Likely) benign	1 lab	239623f3da
X:152158969 PNMA5 G>A	X	152158969	152158969	G	A	PNMA5	c.1174C>T	NM_001184924.2	NP_001171853.1:p.(Arg392Cys)	NC_000023.10:g.152158969G>A	(Likely) benign	1 lab	6aacab7324
12:121437402 HNF1A G>A	12	121437402	121437402	G	A	HNF1A	c.1740G>A	NM_000545.8	NP_000536.6:p.(Pro580=)	NC_000012.11:g.121437402G>A	(Likely) benign	1 lab	6aadf2e835
X:48814573 OTUD5 G>A	X	48814573	48814573	G	A	OTUD5	c.260C>T	NM_001136157.2	NP_001129629.1:p.(Pro87Leu)	NC_000023.10:g.48814573G>A	VUS	1 lab	6aae020ba2
17:37817254 STARD3 G>A	17	37817254	37817254	G	A	STARD3	c.1055G>A	NM_006804.4	NP_006795.3:p.(Arg352His)	NC_000017.10:g.37817254G>A	(Likely) benign	1 lab	6aafb9254b
X:71792273 HDAC8 T>A	X	71792273	71792273	T	A	HDAC8	c.111+228A>T	NM_018486.3	NP_060956.1:p.?	NC_000023.10:g.71792273T>A	(Likely) benign	1 lab	6ab00cde1b
5:172660110 NKX2-5 G>T	5	172660110	172660110	G	T	NKX2-5	c.437C>A	NM_004387.4	NP_004378.1:p.(Ser146Ter)	NC_000005.9:g.172660110G>T	(Likely) pathogenic	1 lab	6ab045b8cb
6:111695608 REV3L T>C	6	111695608	111695608	T	C	REV3L	c.3950A>G	NM_001372078.1	NP_001359007.1:p.(Asp1317Gly)	NC_000006.11:g.111695608T>C	(Likely) benign	1 lab	6ab6728cc4
14:92472291 TRIP11 T>C	14	92472291	92472291	T	C	TRIP11	c.2029A>G	NM_004239.4	NP_004230.2:p.(Met677Val)	NC_000014.8:g.92472291T>C	(Likely) benign	1 lab	6ab6881b19
21:33057974 SCAF4 T>C	21	33057974	33057974	T	C	SCAF4	c.2116A>G	NM_020706.2	NP_065757.1:p.(Ile706Val)	NC_000021.8:g.33057974T>C	VUS	1 lab	6ab6a1598e
15:35085507 ACTC1 G>A	15	35085507	35085507	G	A	ACTC1	c.393C>T	NM_005159.4	NP_005150.1:p.(Val131=)	NC_000015.9:g.35085507G>A	(Likely) benign	1 lab	36390720a6
3:57994398 FLNB G>A	3	57994398	57994398	G	A	FLNB	c.107G>A	NM_001457.4	NP_001448.2:p.(Arg36His)	NC_000003.11:g.57994398G>A	(Likely) benign	1 lab	6ab6e18357
15:38643333 SPRED1 A>G	15	38643333	38643333	A	G	SPRED1	c.803A>G	NM_152594.3	NP_689807.1:p.(Lys268Arg)	NC_000015.9:g.38643333A>G	VUS	1 lab	6ab72fbd9c
8:42251792 VDAC3 A>G	8	42251792	42251792	A	G	VDAC3	c.63A>G	NM_005662.7	NP_005653.3:p.(Gly21=)	NC_000008.10:g.42251792A>G	VUS	1 lab	6ab9b8f16e
10:65225356 JMJD1C C>T	10	65225356	65225356	C	T	JMJD1C	c.67G>A	NM_032776.3	NP_116165.1:p.(Ala23Thr)	NC_000010.10:g.65225356C>T	(Likely) benign	1 lab	6ab9c98c06
7:19156781 TWIST1 G>T	7	19156781	19156781	G	T	TWIST1	c.164C>A	NM_000474.4	NP_000465.1:p.(Ala55Asp)	NC_000007.13:g.19156781G>T	VUS	1 lab	6abc00e661
5:138356979 SIL1 C>T	5	138356979	138356979	C	T	SIL1	c.648G>A	NM_022464.5	NP_071909.1:p.(Met216Ile)	NC_000005.9:g.138356979C>T	(Likely) benign	1 lab	6abcd1ee5d
19:1456844 APC2 C>CCCCCCA	19	1456844	1456850	C	CCCCCCA	APC2	c.817-7_817-2dup	NM_005883.3	NP_005874.1:p.?	NC_000019.9:g.1456845_1456850dup	VUS	1 lab	6abfaf8662
15:30381959 GOLGA8J C>G	15	30381959	30381959	C	G	GOLGA8J	c.931C>G	NM_001282472.2	NP_001269401.1:p.(Leu311Val)	NC_000015.9:g.30381959C>G	VUS	1 lab	6abff5e731
19:49633675 PPFIA3 G>A	19	49633675	49633675	G	A	PPFIA3	c.698G>A	NM_003660.4	NP_003651.1:p.(Arg233Gln)	NC_000019.9:g.49633675G>A	(Likely) benign	1 lab	6ac4b36f94
X:41206236 DDX3X C>G	X	41206236	41206236	C	G	DDX3X	c.1740C>G	NM_001356.5	NP_001347.3:p.(Tyr580Ter)	NC_000023.10:g.41206236C>G	VUS	1 lab	6ac5d1f587
9:139739071 AJM1 G>A	9	139739071	139739071	G	A	AJM1	c.205G>A	NM_001080482.5	NP_001073951.2:p.(Glu69Lys)	NC_000009.11:g.139739071G>A	(Likely) benign	1 lab	6ac626338d
7:100806350 VGF G>A	7	100806350	100806350	G	A	VGF	c.1775C>T	NM_003378.4	NP_003369.2:p.(Ala592Val)	NC_000007.13:g.100806350G>A	VUS	1 lab	6ac767976b
12:121434340 HNF1A G>A	12	121434340	121434340	G	A	HNF1A	c.1108-4G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121434340G>A	VUS	1 lab	6af25a7d11
18:19437171 MIB1 G>A	18	19437171	19437171	G	A	MIB1	c.2746G>A	NM_020774.4	NP_065825.1:p.(Gly916Arg)	NC_000018.9:g.19437171G>A	(Likely) benign	1 lab	223aa4ad7b
5:137688547 KDM3B GGCCTCA>G	5	137688547	137688558	GGCCTCA	G	KDM3B	c.69_74del	NM_016604.4	NP_057688.3:p.(Ser27_Ala28del)	NC_000005.9:g.137688553_137688558del	VUS	1 lab	6accefd592
X:49088392 CACNA1F A>G	X	49088392	49088392	A	G	CACNA1F	c.26-3T>C	NM_001256789.3	NP_001243718.1:p.?	NC_000023.10:g.49088392A>G	VUS	1 lab	6acd4b2a03
19:51326950 KLK1 C>T	19	51326950	51326950	C	T	KLK1	c.46+9G>A	NM_002257.4	NP_002248.1:p.?	NC_000019.9:g.51326950C>T	(Likely) benign	1 lab	6acd9ab44c
10:48382036 RBP3 A>T	10	48382036	48382036	A	T	RBP3	c.3613T>A	NM_002900.3	NP_002891.1:p.(Ser1205Thr)	NC_000010.10:g.48382036A>T	VUS	1 lab	223b60fbbc
10:35929299 FZD8 CGCGCCCCCA>C	10	35929299	35929316	CGCGCCCCCA	C	FZD8	c.1050_1058del	NM_031866.3	NP_114072.1:p.(Gly354_Ala356del)	NC_000010.10:g.35929308_35929316del	VUS	1 lab	6ad11da8d1
11:3047902 CARS1 T>C	11	3047902	3047902	T	C	CARS1	c.1153+4A>G	NM_001014437.3	NP_001014437.1:p.?	NC_000011.9:g.3047902T>C	VUS	1 lab	6ad16abf66
8:110510763 PKHD1L1 G>T	8	110510763	110510763	G	T	PKHD1L1	c.10672G>T	NM_177531.6	NP_803875.2:p.(Glu3558Ter)	NC_000008.10:g.110510763G>T	VUS	1 lab	6ad3113951
10:53227582 PRKG1 C>T	10	53227582	53227582	C	T	PRKG1	c.578C>T	NM_006258.4	NP_006249.1:p.(Thr193Ile)	NC_000010.10:g.53227582C>T	VUS	1 lab	6ad3ad9eba
4:9212396 USP17L10 C>T	4	9212396	9212396	C	T	USP17L10	c.14C>T	NM_001256852.1	NP_001243781.1:p.(Ser5Leu)	NC_000004.11:g.9212396C>T	(Likely) benign	1 lab	6ad44b9063
1:100349983 AGL C>T	1	100349983	100349983	C	T	AGL	c.2522C>T	NM_000642.3	NP_000633.2:p.(Ser841Phe)	NC_000001.10:g.100349983C>T	(Likely) benign	1 lab	6ad481d463
5:76646947 PDE8B G>A	5	76646947	76646947	G	A	PDE8B	c.1075G>A	NM_003719.5	NP_003710.1:p.(Val359Met)	NC_000005.9:g.76646947G>A	VUS	1 lab	6ad6993632
10:21806004 SKIDA1 C>T	10	21806004	21806004	C	T	SKIDA1	c.748G>A	NM_207371.4	NP_997254.3:p.(Ala250Thr)	NC_000010.10:g.21806004C>T	(Likely) benign	1 lab	6ada14f73a
2:48010498 MSH6 T>G	2	48010498	48010498	T	G	MSH6	c.126T>G	NM_000179.3	NP_000170.1:p.(Pro42=)	NC_000002.11:g.48010498T>G	VUS	1 lab	6adc8009d9
10:70181980 DNA2 A>C	10	70181980	70181980	A	C	DNA2	c.2697+2T>G	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70181980A>C	VUS	1 lab	6adc8234ac
7:72397481 POM121 T>A	7	72397481	72397481	T	A	POM121	c.1002T>A	NM_001387691.1	NP_001374620.1:p.(Asp334Glu)	NC_000007.13:g.72397481T>A	(Likely) benign	1 lab	6add94302a
2:166153529 SCN2A G>A	2	166153529	166153529	G	A	SCN2A	c.270G>A	NM_001040142.2	NP_001035232.1:p.(Thr90=)	NC_000002.11:g.166153529G>A	(Likely) benign	1 lab	6ade689eb5
4:166978337 TLL1 G>A	4	166978337	166978337	G	A	TLL1	c.1722G>A	NM_012464.5	NP_036596.3:p.(Glu574=)	NC_000004.11:g.166978337G>A	(Likely) benign	1 lab	6ae2590527
X:69669713 DLG3 C>T	X	69669713	69669713	C	T	DLG3	c.703+4C>T	NM_021120.4	NP_066943.2:p.?	NC_000023.10:g.69669713C>T	(Likely) benign	1 lab	6ae4fb0c30
17:7534998 SHBG G>A	17	7534998	7534998	G	A	SHBG	c.647G>A	NM_001040.5	NP_001031.2:p.(Ser216Asn)	NC_000017.10:g.7534998G>A	VUS	1 lab	6ae506ed1e
12:121416858 HNF1A A>C	12	121416858	121416858	A	C	HNF1A	c.287A>C	NM_000545.8	NP_000536.6:p.(Glu96Ala)	NC_000012.11:g.121416858A>C	(Likely) benign	1 lab	6ae50d6945
16:89256762 CDH15 G>C	16	89256762	89256762	G	C	CDH15	c.1090G>C	NM_004933.3	NP_004924.1:p.(Val364Leu)	NC_000016.9:g.89256762G>C	(Likely) benign	1 lab	6ae8bf9a0e
1:228467925 OBSCN C>T	1	228467925	228467925	C	T	OBSCN	c.8996C>T	NM_001386125.1	NP_001373054.1:p.(Thr2999Met)	NC_000001.10:g.228467925C>T	(Likely) benign	1 lab	6aea555f8d
8:28573473 EXTL3 C>T	8	28573473	28573473	C	T	EXTL3	c.-104C>T	NM_001440.4	NP_001431.1:p.?	NC_000008.10:g.28573473C>T	(Likely) benign	1 lab	6aeb3c454b
14:79175830 NRXN3 C>T	14	79175830	79175830	C	T	NRXN3	c.1492C>T	NM_001330195.2	NP_001317124.1:p.(Arg498Trp)	NC_000014.8:g.79175830C>T	VUS	1 lab	6aeb607c23
9:133261088 HMCN2 T>A	9	133261088	133261088	T	A	HMCN2	c.9248T>A	NM_001291815.2	NP_001278744.1:p.(Val3083Asp)	NC_000009.11:g.133261088T>A	VUS	1 lab	6aef07366f
4:114288728 ANK2 C>T	4	114288728	114288728	C	T	ANK2	c.11039C>T	NM_001148.6	NP_001139.3:p.(Ser3680Leu)	NC_000004.11:g.114288728C>T	VUS	1 lab	6af037e7a5
2:121746170 GLI2 G>C	2	121746170	121746170	G	C	GLI2	c.2629G>C	NM_001374353.1	NP_001361282.1:p.(Ala877Pro)	NC_000002.11:g.121746170G>C	VUS	1 lab	6af06473e3
X:8433892 VCX3B G>C	X	8433892	8433892	G	C	VCX3B	c.209G>C	NM_001001888.4	NP_001001888.3:p.(Gly70Ala)	NC_000023.10:g.8433892G>C	(Likely) benign	1 lab	6af1d215ce
3:124732590 HEG1 G>C	3	124732590	124732590	G	C	HEG1	c.1833C>G	NM_020733.2	NP_065784.1:p.(Ile611Met)	NC_000003.11:g.124732590G>C	(Likely) benign	1 lab	6af4047da1
6:24523153 ALDH5A1 GGTAA>G	6	24523153	24523160	GGTAA	G	ALDH5A1	c.1173+4_1173+7del	NM_001080.3	NP_001071.1:p.?	NC_000006.11:g.24523157_24523160del	(Likely) benign	1 lab	6af52cc264
13:111009897 COL4A2 C>T	13	111009897	111009897	C	T	COL4A2	c.178C>T	NM_001846.4	NP_001837.2:p.(Arg60Cys)	NC_000013.10:g.111009897C>T	VUS	1 lab	6af5347f66
15:89386841 ACAN C>T	15	89386841	89386841	C	T	ACAN	c.1013C>T	NM_001369268.1	NP_001356197.1:p.(Pro338Leu)	NC_000015.9:g.89386841C>T	VUS	1 lab	6af773db7d
10:104264081 SUFU G>C	10	104264081	104264081	G	C	SUFU	c.172G>C	NM_016169.4	NP_057253.2:p.(Val58Leu)	NC_000010.10:g.104264081G>C	VUS	1 lab	6af87f54e5
12:49425443 KMT2D G>C	12	49425443	49425443	G	C	KMT2D	c.13045C>G	NM_003482.4	NP_003473.3:p.(Pro4349Ala)	NC_000012.11:g.49425443G>C	(Likely) benign	1 lab	6af8e73526
19:45281388 CBLC G>C	19	45281388	45281388	G	C	CBLC	c.200G>C	NM_012116.4	NP_036248.3:p.(Gly67Ala)	NC_000019.9:g.45281388G>C	(Likely) benign	1 lab	6af9a4db04
3:186974503 MASP1 T>C	3	186974503	186974503	T	C	MASP1	c.693A>G	NM_139125.4	NP_624302.1:p.(Ile231Met)	NC_000003.11:g.186974503T>C	VUS	1 lab	6afa0d4b63
15:89400692 ACAN C>T	15	89400692	89400692	C	T	ACAN	c.4876C>T	NM_001369268.1	NP_001356197.1:p.(Pro1626Ser)	NC_000015.9:g.89400692C>T	VUS	1 lab	6afa3d41c5
16:84215889 TAF1C C>T	16	84215889	84215889	C	T	TAF1C	c.640G>A	NM_001243156.2	NP_001230085.2:p.(Gly214Ser)	NC_000016.9:g.84215889C>T	VUS	1 lab	6afbd9c4a6
12:48371837 COL2A1 C>G	12	48371837	48371837	C	G	COL2A1	c.3067G>C	NM_001844.5	NP_001835.3:p.(Gly1023Arg)	NC_000012.11:g.48371837C>G	(Likely) pathogenic	1 lab	6afc563115
2:133540061 NCKAP5 A>C	2	133540061	133540061	A	C	NCKAP5	c.4323T>G	NM_207363.3	NP_997246.2:p.(Ser1441Arg)	NC_000002.11:g.133540061A>C	(Likely) benign	1 lab	6afca2c083
17:42338998 SLC4A1 T>G	17	42338998	42338998	T	G	SLC4A1	c.113A>C	NM_000342.4	NP_000333.1:p.(Asp38Ala)	NC_000017.10:g.42338998T>G	(Likely) benign	1 lab	2398fd1c86
1:152281969 FLG C>T	1	152281969	152281969	C	T	FLG	c.5393G>A	NM_002016.2	NP_002007.1:p.(Arg1798Gln)	NC_000001.10:g.152281969C>T	(Likely) benign	1 lab	6afe214021
10:70182518 DNA2 G>A	10	70182518	70182518	G	A	DNA2	c.2338C>T	NM_001080449.3	NP_001073918.2:p.(Arg780Trp)	NC_000010.10:g.70182518G>A	VUS	1 lab	6afef0f7e9
3:30732982 TGFBR2 A>C	3	30732982	30732982	A	C	TGFBR2	c.1595A>C	NM_003242.6	NP_003233.4:p.(Gln532Pro)	NC_000003.11:g.30732982A>C	VUS	1 lab	6aff295f08
X:153581961 FLNA G>A	X	153581961	153581961	G	A	FLNA	c.5821C>T	NM_001110556.2	NP_001104026.1:p.(Gln1941Ter)	NC_000023.10:g.153581961G>A	(Likely) pathogenic	1 lab	6b0030cad4
11:125488282 STT3A C>T	11	125488282	125488282	C	T	STT3A	c.1789C>T	NM_152713.5	NP_689926.1:p.(Leu597Phe)	NC_000011.9:g.125488282C>T	(Likely) benign	1 lab	6b034c0201
X:2999043 ARSF C>T	X	2999043	2999043	C	T	ARSF	c.395C>T	NM_001201539.2	NP_001188468.1:p.(Thr132Met)	NC_000023.10:g.2999043C>T	(Likely) benign	1 lab	6b03bd1149
9:133944964 LAMC3 GAACCCAGCACGCACTGCCCCTGGCCCCTCTA>G	9	133944964	133945057	GAACCCAGCACGCACTGCCCCTGGCCCCTCTA	G	LAMC3	c.2891-32_2891-2del	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133945027_133945057del	VUS	1 lab	6b04655625
17:48276922 COL1A1 C>T	17	48276922	48276922	C	T	COL1A1	c.328G>A	NM_000088.4	NP_000079.2:p.(Val110Ile)	NC_000017.10:g.48276922C>T	VUS	1 lab	6b05967b30
8:61766963 CHD7 A>G	8	61766963	61766963	A	G	CHD7	c.6817A>G	NM_017780.4	NP_060250.2:p.(Asn2273Asp)	NC_000008.10:g.61766963A>G	VUS	1 lab	6b05bad9be
11:17498224 ABCC8 C>T	11	17498224	17498224	C	T	ABCC8	c.100G>A	NM_000352.6	NP_000343.2:p.(Val34Met)	NC_000011.9:g.17498224C>T	VUS	1 lab	6b089fe201
16:30740902 SRCAP G>A	16	30740902	30740902	G	A	SRCAP	c.6127+9G>A	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30740902G>A	(Likely) benign	1 lab	6b0ae79c07
14:56106644 KTN1 G>A	14	56106644	56106644	G	A	KTN1	c.1837G>A	NM_001079521.2	NP_001072989.1:p.(Asp613Asn)	NC_000014.8:g.56106644G>A	(Likely) benign	1 lab	6b0bd8b198
17:8380351 MYH10 C>T	17	8380351	8380351	C	T	MYH10	c.5722G>A	NM_001256012.3	NP_001242941.1:p.(Ala1908Thr)	NC_000017.10:g.8380351C>T	(Likely) benign	1 lab	6b0d3ff088
7:87563873 ADAM22 A>T	7	87563873	87563873	A	T	ADAM22	c.85+8A>T	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87563873A>T	(Likely) benign	1 lab	6b0e404f39
12:31256929 DDX11 G>A	12	31256929	31256929	G	A	DDX11	c.*159G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31256929G>A	(Likely) benign	1 lab	6b0f25ff9d
17:72839107 GRIN2C G>C	17	72839107	72839107	G	C	GRIN2C	c.3169C>G	NM_000835.6	NP_000826.2:p.(Pro1057Ala)	NC_000017.10:g.72839107G>C	VUS	1 lab	6b0f8211cc
2:217315664 SMARCAL1 C>T	2	217315664	217315664	C	T	SMARCAL1	c.1947C>T	NM_014140.4	NP_054859.2:p.(Asp649=)	NC_000002.11:g.217315664C>T	(Likely) benign	1 lab	6b0fa5ec34
11:2905912 CDKN1C G>A	11	2905912	2905912	G	A	CDKN1C	c.775C>T	NM_001122630.2	NP_001116102.1:p.(Pro259Ser)	NC_000011.9:g.2905912G>A	VUS	1 lab	6b106037dc
4:676996 SLC49A3 C>T	4	676996	676996	C	T	SLC49A3	c.1151+3G>A	NM_032219.4	NP_115595.2:p.?	NC_000004.11:g.676996C>T	(Likely) benign	1 lab	6b11ac391f
13:31848689 B3GLCT C>T	13	31848689	31848689	C	T	B3GLCT	c.704C>T	NM_194318.4	NP_919299.3:p.(Thr235Ile)	NC_000013.10:g.31848689C>T	(Likely) benign	1 lab	6b12f64bf9
16:30749214 SRCAP A>G	16	30749214	30749214	A	G	SRCAP	c.7853A>G	NM_006662.3	NP_006653.2:p.(Asn2618Ser)	NC_000016.9:g.30749214A>G	(Likely) benign	1 lab	6b16b1c114
22:41573745 EP300 G>T	22	41573745	41573745	G	T	EP300	c.6030G>T	NM_001429.4	NP_001420.2:p.(Met2010Ile)	NC_000022.10:g.41573745G>T	(Likely) benign	1 lab	6b17008568
11:9182251 DENND5A A>T	11	9182251	9182251	A	T	DENND5A	c.2436+9T>A	NM_015213.4	NP_056028.2:p.?	NC_000011.9:g.9182251A>T	VUS	1 lab	6b188f5b4f
6:118024808 NUS1 C>T	6	118024808	118024808	C	T	NUS1	c.732C>T	NM_138459.5	NP_612468.1:p.(Phe244=)	NC_000006.11:g.118024808C>T	(Likely) benign	1 lab	6b189b1154
21:47423454 COL6A1 C>T	21	47423454	47423454	C	T	COL6A1	c.2614C>T	NM_001848.3	NP_001839.2:p.(Arg872Trp)	NC_000021.8:g.47423454C>T	VUS	1 lab	6b1c5fc3b4
19:39008149 RYR1 G>T	19	39008149	39008149	G	T	RYR1	c.9836G>T	NM_000540.3	NP_000531.2:p.(Ser3279Ile)	NC_000019.9:g.39008149G>T	(Likely) benign	1 lab	6b1d3cff5e
7:103236902 RELN C>T	7	103236902	103236902	C	T	RELN	c.3539+1G>A	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103236902C>T	(Likely) pathogenic	1 lab	6b1ddf19d2
12:116444173 MED13L T>C	12	116444173	116444173	T	C	MED13L	c.2282A>G	NM_015335.5	NP_056150.1:p.(His761Arg)	NC_000012.11:g.116444173T>C	(Likely) benign	1 lab	6b1e74b9b2
7:148511213 EZH2 C>G	7	148511213	148511213	C	G	EZH2	c.1689G>C	NM_004456.5	NP_004447.2:p.(Pro563=)	NC_000007.13:g.148511213C>G	(Likely) benign	1 lab	6b1ed845df
5:177034528 B4GALT7 G>A	5	177034528	177034528	G	A	B4GALT7	c.639G>A	NM_007255.3	NP_009186.1:p.(Leu213=)	NC_000005.9:g.177034528G>A	VUS	1 lab	6b1f13ba36
X:10535325 MID1 T>C	X	10535325	10535325	T	C	MID1	c.263A>G	NM_000381.4	NP_000372.1:p.(Lys88Arg)	NC_000023.10:g.10535325T>C	VUS	1 lab	6c60ebc819
9:109688883 ZNF462 A>G	9	109688883	109688883	A	G	ZNF462	c.2690A>G	NM_021224.6	NP_067047.4:p.(Asn897Ser)	NC_000009.11:g.109688883A>G	(Likely) benign	1 lab	6b2214d5ad
5:137720429 KDM3B CAA>C	5	137720429	137720453	CAA	C	KDM3B	c.781-1259_781-1258del	NM_016604.4	NP_057688.3:p.?	NC_000005.9:g.137720452_137720453del	(Likely) benign	1 lab	6b22e10b74
1:151143146 TMOD4 G>A	1	151143146	151143146	G	A	TMOD4	c.871-7C>T	NM_013353.3	NP_037485.2:p.?	NC_000001.10:g.151143146G>A	VUS	1 lab	6b24202603
15:33923421 RYR3 G>A	15	33923421	33923421	G	A	RYR3	c.2794G>A	NM_001036.6	NP_001027.3:p.(Ala932Thr)	NC_000015.9:g.33923421G>A	VUS	1 lab	6b2429361c
6:30627249 DHX16 C>A	6	30627249	30627249	C	A	DHX16	c.2007G>T	NM_003587.5	NP_003578.2:p.(Lys669Asn)	NC_000006.11:g.30627249C>A	VUS	1 lab	6b25118156
9:332443 DOCK8 C>T	9	332443	332443	C	T	DOCK8	c.1090C>T	NM_203447.4	NP_982272.2:p.(Pro364Ser)	NC_000009.11:g.332443C>T	VUS	1 lab	6b26a925d1
2:208994265 CRYGC T>C	2	208994265	208994265	T	C	CRYGC	c.152A>G	NM_020989.4	NP_066269.1:p.(Tyr51Cys)	NC_000002.11:g.208994265T>C	(Likely) benign	1 lab	6b270389a7
13:32914102 BRCA2 C>G	13	32914102	32914102	C	G	BRCA2	c.5610C>G	NM_000059.4	NP_000050.3:p.(Phe1870Leu)	NC_000013.10:g.32914102C>G	VUS	1 lab	6b27592a01
9:101980995 ALG2 G>T	9	101980995	101980995	G	T	ALG2	c.472C>A	NM_033087.4	NP_149078.1:p.(Pro158Thr)	NC_000009.11:g.101980995G>T	VUS	1 lab	6b27e8a9a4
4:82027097 PRKG2 G>A	4	82027097	82027097	G	A	PRKG2	c.1941-8C>T	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82027097G>A	(Likely) benign	1 lab	6b2801fc0c
2:170066064 LRP2 G>A	2	170066064	170066064	G	A	LRP2	c.6368C>T	NM_004525.3	NP_004516.2:p.(Ala2123Val)	NC_000002.11:g.170066064G>A	VUS	1 lab	6b28145214
5:37157828 CPLANE1 T>C	5	37157828	37157828	T	C	CPLANE1	c.7955A>G	NM_001384732.1	NP_001371661.1:p.(His2652Arg)	NC_000005.9:g.37157828T>C	VUS	1 lab	6b28449924
1:223567347 CCDC185 G>T	1	223567347	223567347	G	T	CCDC185	c.530G>T	NM_152610.3	NP_689823.2:p.(Gly177Val)	NC_000001.10:g.223567347G>T	(Likely) benign	1 lab	6b29e7ede9
12:1005742 WNK1 C>G	12	1005742	1005742	C	G	WNK1	c.6089C>G	NM_018979.4	NP_061852.3:p.(Pro2030Arg)	NC_000012.11:g.1005742C>G	VUS	1 lab	6d0ba89605
10:114427981 VTI1A A>G	10	114427981	114427981	A	G	VTI1A	c.432A>G	NM_145206.4	NP_660207.2:p.(Gln144=)	NC_000010.10:g.114427981A>G	(Likely) benign	1 lab	6b2a3dad14
17:62019330 SCN4A G>A	17	62019330	62019330	G	A	SCN4A	c.4312C>T	NM_000334.4	NP_000325.4:p.(Gln1438Ter)	NC_000017.10:g.62019330G>A	(Likely) pathogenic	1 lab	6b2b90017d
7:40027517 CDK13 C>G	7	40027517	40027517	C	G	CDK13	c.1531C>G	NM_003718.5	NP_003709.3:p.(His511Asp)	NC_000007.13:g.40027517C>G	VUS	1 lab	6b2cd28e19
2:36583511 CRIM1 C>A	2	36583511	36583511	C	A	CRIM1	c.76C>A	NM_016441.3	NP_057525.1:p.(Leu26Met)	NC_000002.11:g.36583511C>A	(Likely) benign	1 lab	6b2fbbbb63
15:58253490 ALDH1A2 G>T	15	58253490	58253490	G	T	ALDH1A2	c.1254C>A	NM_003888.4	NP_003879.2:p.(Ile418=)	NC_000015.9:g.58253490G>T	(Likely) benign	1 lab	6b301f25b4
11:108214040 ATM C>G	11	108214040	108214040	C	G	ATM	c.8360C>G	NM_000051.4	NP_000042.3:p.(Ala2787Gly)	NC_000011.9:g.108214040C>G	VUS	1 lab	6b3150dff7
8:144994515 PLEC G>A	8	144994515	144994515	G	A	PLEC	c.9474C>T	NM_201384.3	NP_958786.1:p.(Cys3158=)	NC_000008.10:g.144994515G>A	(Likely) benign	1 lab	6b33711d7d
14:95582086 DICER1 C>A	14	95582086	95582086	C	A	DICER1	c.1825G>T	NM_177438.2	NP_803187.1:p.(Asp609Tyr)	NC_000014.8:g.95582086C>A	(Likely) benign	1 lab	23a4bfc889
X:47498518 ELK1 C>T	X	47498518	47498518	C	T	ELK1	c.430G>A	NM_001114123.3	NP_001107595.1:p.(Gly144Ser)	NC_000023.10:g.47498518C>T	(Likely) benign	1 lab	6b36c389ec
6:41555241 FOXP4 G>A	6	41555241	41555241	G	A	FOXP4	c.863G>A	NM_001012426.2	NP_001012426.1:p.(Arg288Gln)	NC_000006.11:g.41555241G>A	VUS	1 lab	6b36ce78d8
11:55111543 OR4A16 A>T	11	55111543	55111543	A	T	OR4A16	c.867A>T	NM_001005274.1	NP_001005274.1:p.(Gln289His)	NC_000011.9:g.55111543A>T	(Likely) benign	1 lab	6b37680e85
6:91229032 MAP3K7 T>C	6	91229032	91229032	T	C	MAP3K7	c.1469A>G	NM_145331.3	NP_663304.1:p.(Asn490Ser)	NC_000006.11:g.91229032T>C	(Likely) benign	1 lab	6b376eb2b1
X:103294742 H2BW2 G>T	X	103294742	103294742	G	T	H2BW2	c.181G>T	NM_001388464.1	NP_001375393.1:p.(Val61Leu)	NC_000023.10:g.103294742G>T	VUS	1 lab	6b37ab4a95
17:39969298 FKBP10 G>T	17	39969298	39969298	G	T	FKBP10	c.12G>T	NM_021939.4	NP_068758.3:p.(Ala4=)	NC_000017.10:g.39969298G>T	(Likely) benign	1 lab	6b3ab25cf2
16:67645105 CTCF G>A	16	67645105	67645105	G	A	CTCF	c.370G>A	NM_006565.4	NP_006556.1:p.(Val124Ile)	NC_000016.9:g.67645105G>A	VUS	1 lab	6b3af442a0
8:71646504 XKR9 A>G	8	71646504	71646504	A	G	XKR9	c.967A>G	NM_001011720.2	NP_001011720.1:p.(Ile323Val)	NC_000008.10:g.71646504A>G	(Likely) benign	1 lab	6b3bcc7bbc
19:1467862 APC2 CCG>C	19	1467862	1467867	CCG	C	APC2	c.4566_4567del	NM_005883.3	NP_005874.1:p.(Pro1523HisfsTer48)	NC_000019.9:g.1467866_1467867del	VUS	1 lab	6b3c6762ea
15:89866654 POLG A>G	15	89866654	89866654	A	G	POLG	c.2246T>C	NM_002693.3	NP_002684.1:p.(Phe749Ser)	NC_000015.9:g.89866654A>G	(Likely) pathogenic	1 lab	6b3dc33cb5
16:3299600 MEFV G>A	16	3299600	3299600	G	A	MEFV	c.1091C>T	NM_000243.2	NP_000234.1:p.(Pro364Leu)	NC_000016.9:g.3299600G>A	VUS	1 lab	23a76258b9
1:22183649 HSPG2 C>T	1	22183649	22183649	C	T	HSPG2	c.5434G>A	NM_005529.7	NP_005520.4:p.(Gly1812Arg)	NC_000001.10:g.22183649C>T	VUS	1 lab	6b3fed67bd
2:228771973 DAW1 G>A	2	228771973	228771973	G	A	DAW1	c.973+5G>A	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228771973G>A	(Likely) benign	1 lab	6b4064a519
19:3980671 EEF2 A>C	19	3980671	3980671	A	C	EEF2	c.1187T>G	NM_001961.4	NP_001952.1:p.(Met396Arg)	NC_000019.9:g.3980671A>C	VUS	1 lab	6b413d71c9
2:99766944 TSGA10 A>T	2	99766944	99766944	A	T	TSGA10	c.-621+4212T>A	NM_025244.4	NP_079520.1:p.?	NC_000002.11:g.99766944A>T	(Likely) benign	1 lab	6b4202dd1e
2:179429967 TTN A>AT	2	179429967	179429971	A	AT	TTN	c.80891dup	NM_001267550.1	NP_001254479.1:p.(Asn26964LysfsTer20)	NC_000002.11:g.179429971dup	(Likely) pathogenic	1 lab	23a8248dc0
X:147743505 AFF2 C>T	X	147743505	147743505	C	T	AFF2	c.257C>T	NM_002025.4	NP_002016.2:p.(Thr86Ile)	NC_000023.10:g.147743505C>T	VUS	1 lab	6b4506d6a0
16:2149936 PKD1 G>C	16	2149936	2149936	G	C	PKD1	c.9849C>G	NM_001009944.3	NP_001009944.3:p.(Cys3283Trp)	NC_000016.9:g.2149936G>C	(Likely) pathogenic	1 lab	6b468160e0
5:167937606 RARS1 C>T	5	167937606	167937606	C	T	RARS1	c.1367C>T	NM_002887.4	NP_002878.2:p.(Ser456Leu)	NC_000005.9:g.167937606C>T	(Likely) pathogenic	1 lab	6b48908c5e
5:86564530 RASA1 G>A	5	86564530	86564530	G	A	RASA1	c.262G>A	NM_002890.3	NP_002881.1:p.(Gly88Arg)	NC_000005.9:g.86564530G>A	(Likely) benign	1 lab	6b4aa12bf8
12:6666170 NOP2 G>A	12	6666170	6666170	G	A	NOP2	c.2428C>T	NM_001258308.2	NP_001245237.1:p.(Leu810=)	NC_000012.11:g.6666170G>A	VUS	1 lab	6b4aa309eb
1:16382989 CLCNKB G>C	1	16382989	16382989	G	C	CLCNKB	c.2002G>C	NM_000085.5	NP_000076.2:p.(Val668Leu)	NC_000001.10:g.16382989G>C	VUS	1 lab	6b4adad949
1:52838951 ORC1 G>A	1	52838951	52838951	G	A	ORC1	c.2488C>T	NM_004153.4	NP_004144.2:p.(Arg830Cys)	NC_000001.10:g.52838951G>A	(Likely) benign	1 lab	6b4af7eb9a
3:10858128 SLC6A11 G>A	3	10858128	10858128	G	A	SLC6A11	c.178G>A	NM_014229.3	NP_055044.1:p.(Val60Met)	NC_000003.11:g.10858128G>A	VUS	1 lab	6b4b069430
19:58290693 ZNF586 C>G	19	58290693	58290693	C	G	ZNF586	c.738C>G	NM_017652.4	NP_060122.2:p.(Asn246Lys)	NC_000019.9:g.58290693C>G	VUS	1 lab	6b4b231102
4:122756360 BBS7 G>A	4	122756360	122756360	G	A	BBS7	c.1450C>T	NM_176824.3	NP_789794.1:p.(Arg484Cys)	NC_000004.11:g.122756360G>A	(Likely) benign	1 lab	6b4c292a5c
1:43786969 TIE1 T>C	1	43786969	43786969	T	C	TIE1	c.3137T>C	NM_005424.5	NP_005415.1:p.(Ile1046Thr)	NC_000001.10:g.43786969T>C	VUS	1 lab	6b4d62fd71
16:2153277 PKD1 C>CT	16	2153277	2153278	C	CT	PKD1	c.8780_8781insA	NM_001009944.3	NP_001009944.3:p.(Leu2928AlafsTer9)	NC_000016.9:g.2153277_2153278insT	(Likely) pathogenic	1 lab	6b4da7e2e7
11:101362454 TRPC6 G>GT	11	101362454	101362460	G	GT	TRPC6	c.960dup	NM_004621.6	NP_004612.2:p.(Leu321ThrfsTer14)	NC_000011.9:g.101362460dup	VUS	1 lab	6b4df567b7
1:20664159 VWA5B1 C>T	1	20664159	20664159	C	T	VWA5B1	c.1963C>T	NM_001039500.3	NP_001034589.2:p.(Arg655Trp)	NC_000001.10:g.20664159C>T	VUS	1 lab	6b4fb2602a
15:56535487 RFX7 T>A	15	56535487	56535487	T	A	RFX7	c.-2-2A>T	NM_022841.7	NP_073752.6:p.?	NC_000015.9:g.56535487T>A	VUS	1 lab	6b4ff50c8b
1:147380239 GJA8 G>T	1	147380239	147380239	G	T	GJA8	c.157G>T	NM_005267.5	NP_005258.2:p.(Val53Leu)	NC_000001.10:g.147380239G>T	VUS	1 lab	6b514bac6b
7:150716029 ATG9B C>G	7	150716029	150716029	C	G	ATG9B	c.1396G>C	NM_001317056.2	NP_001303985.1:p.(Val466Leu)	NC_000007.13:g.150716029C>G	(Likely) benign	1 lab	6b51680680
14:20854625 TEP1 C>T	14	20854625	20854625	C	T	TEP1	c.2842G>A	NM_007110.5	NP_009041.2:p.(Glu948Lys)	NC_000014.8:g.20854625C>T	(Likely) benign	1 lab	6b52baf398
3:52387190 DNAH1 G>C	3	52387190	52387190	G	C	DNAH1	c.3099G>C	NM_015512.5	NP_056327.4:p.(Trp1033Cys)	NC_000003.11:g.52387190G>C	VUS	1 lab	6b537453bd
16:84183853 DNAAF1 C>G	16	84183853	84183853	C	G	DNAAF1	c.261-3C>G	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84183853C>G	VUS	1 lab	223e133d15
17:40354783 STAT5B C>T	17	40354783	40354783	C	T	STAT5B	c.2121G>A	NM_012448.4	NP_036580.2:p.(Val707=)	NC_000017.10:g.40354783C>T	VUS	1 lab	6b56a61e5e
3:63981618 ATXN7 G>A	3	63981618	63981618	G	A	ATXN7	c.2120G>A	NM_001377405.1	NP_001364334.1:p.(Arg707His)	NC_000003.11:g.63981618G>A	(Likely) benign	1 lab	6b5713cffc
7:70239029 AUTS2 G>A	7	70239029	70239029	G	A	AUTS2	c.1846G>A	NM_015570.4	NP_056385.1:p.(Asp616Asn)	NC_000007.13:g.70239029G>A	VUS	1 lab	6b5771304b
17:7762832 CYB5D1 C>T	17	7762832	7762832	C	T	CYB5D1	c.589C>T	NM_144607.6	NP_653208.2:p.(Arg197Trp)	NC_000017.10:g.7762832C>T	VUS	1 lab	6b57dd7324
4:88536817 DSPP CAACAGCAGT>C	4	88536817	88536826	CAACAGCAGT	C	DSPP	c.3004_3012del	NM_014208.3	NP_055023.2:p.(Asn1002_Ser1004del)	NC_000004.11:g.88536818_88536826del	(Likely) benign	1 lab	6b58c4d674
X:129771195 ENOX2 G>A	X	129771195	129771195	G	A	ENOX2	c.1311+8C>T	NM_006375.4	NP_006366.2:p.?	NC_000023.10:g.129771195G>A	VUS	1 lab	6b596666c7
1:158152008 CD1D C>T	1	158152008	158152008	C	T	CD1D	c.515C>T	NM_001371762.2	NP_001358691.1:p.(Thr172Met)	NC_000001.10:g.158152008C>T	VUS	1 lab	6b5984eb5c
11:66475668 SPTBN2 G>A	11	66475668	66475668	G	A	SPTBN2	c.1294C>T	NM_006946.4	NP_008877.2:p.(Arg432Cys)	NC_000011.9:g.66475668G>A	VUS	1 lab	6b5a4efb13
2:84686372 SUCLG1 C>A	2	84686372	84686372	C	A	SUCLG1	c.22G>T	NM_003849.4	NP_003840.2:p.(Ala8Ser)	NC_000002.11:g.84686372C>A	VUS	1 lab	6b5aa43e85
19:4510548 PLIN4 C>T	19	4510548	4510548	C	T	PLIN4	c.3424G>A	NM_001367868.2	NP_001354797.1:p.(Gly1142Ser)	NC_000019.9:g.4510548C>T	(Likely) benign	1 lab	6b5da8cfc3
1:40768332 COL9A2 C>T	1	40768332	40768332	C	T	COL9A2	c.1753G>A	NM_001852.4	NP_001843.1:p.(Val585Met)	NC_000001.10:g.40768332C>T	VUS	1 lab	6b610aa926
22:19969136 ARVCF C>T	22	19969136	19969136	C	T	ARVCF	c.494G>A	NM_001670.3	NP_001661.1:p.(Arg165Gln)	NC_000022.10:g.19969136C>T	VUS	1 lab	6b61169537
10:61965649 ANK3 C>T	10	61965649	61965649	C	T	ANK3	c.1195-1G>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61965649C>T	VUS	1 lab	6b6268fca8
22:36623980 APOL2 C>T	22	36623980	36623980	C	T	APOL2	c.484G>A	NM_030882.4	NP_112092.2:p.(Ala162Thr)	NC_000022.10:g.36623980C>T	(Likely) benign	1 lab	6b63692636
9:32987541 APTX C>A	9	32987541	32987541	C	A	APTX	c.483+1G>T	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32987541C>A	VUS	1 lab	6b643f6a7e
2:152385713 NEB C>CTGGA	2	152385713	152385717	C	CTGGA	NEB	c.21735+7_21735+10dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152385714_152385717dup	(Likely) benign	1 lab	6b65d5a290
1:100340787 AGL G>A	1	100340787	100340787	G	A	AGL	c.1160G>A	NM_000642.3	NP_000633.2:p.(Arg387Gln)	NC_000001.10:g.100340787G>A	(Likely) benign	1 lab	6b683c38cc
18:44774351 SKOR2 C>T	18	44774351	44774351	C	T	SKOR2	c.1204G>A	NM_001278063.4	NP_001264992.1:p.(Gly402Ser)	NC_000018.9:g.44774351C>T	VUS	1 lab	6b68a77703
11:126318910 KIRREL3 C>T	11	126318910	126318910	C	T	KIRREL3	c.991G>A	NM_032531.4	NP_115920.1:p.(Val331Ile)	NC_000011.9:g.126318910C>T	VUS	1 lab	6b6984b867
X:69670118 DLG3 A>T	X	69670118	69670118	A	T	DLG3	c.803A>T	NM_021120.4	NP_066943.2:p.(Lys268Met)	NC_000023.10:g.69670118A>T	VUS	1 lab	2244d58cf2
X:54470494 TSR2 T>C	X	54470494	54470494	T	C	TSR2	c.318T>C	NM_058163.3	NP_477511.1:p.(Ala106=)	NC_000023.10:g.54470494T>C	(Likely) benign	1 lab	6b6b5c1a84
19:36223326 KMT2B C>T	19	36223326	36223326	C	T	KMT2B	c.5876C>T	NM_014727.3	NP_055542.1:p.(Ala1959Val)	NC_000019.9:g.36223326C>T	(Likely) benign	1 lab	6b6f8fadbd
10:123846060 TACC2 A>G	10	123846060	123846060	A	G	TACC2	c.4045A>G	NM_206862.4	NP_996744.4:p.(Thr1349Ala)	NC_000010.10:g.123846060A>G	(Likely) benign	1 lab	6b70bdebca
22:43610212 SCUBE1 C>T	22	43610212	43610212	C	T	SCUBE1	c.1937G>A	NM_173050.5	NP_766638.2:p.(Cys646Tyr)	NC_000022.10:g.43610212C>T	VUS	1 lab	6b71e00cb9
1:155932910 ARHGEF2 C>T	1	155932910	155932910	C	T	ARHGEF2	c.789G>A	NM_001162383.2	NP_001155855.1:p.(Thr263=)	NC_000001.10:g.155932910C>T	VUS	1 lab	6b72f618cd
1:46088735 CCDC17 A>G	1	46088735	46088735	A	G	CCDC17	c.548T>C	NM_001114938.3	NP_001108410.2:p.(Leu183Pro)	NC_000001.10:g.46088735A>G	(Likely) benign	1 lab	6b73d0977e
X:39933565 BCOR A>T	X	39933565	39933565	A	T	BCOR	c.1034T>A	NM_001123385.2	NP_001116857.1:p.(Leu345His)	NC_000023.10:g.39933565A>T	(Likely) benign	1 lab	6b74b79159
16:339440 AXIN1 C>G	16	339440	339440	C	G	AXIN1	c.2462G>C	NM_003502.4	NP_003493.1:p.(Arg821Thr)	NC_000016.9:g.339440C>G	VUS	1 lab	6bd3225e99
2:179393310 TTN CAAGTA>C	2	179393310	179393318	CAAGTA	C	TTN	c.107163_107167del	NM_001267550.2	NP_001254479.2:p.(Phe35721LeufsTer2)	NC_000002.11:g.179393314_179393318del	(Likely) pathogenic	1 lab	6b774d6a78
15:99460411 IGF1R A>G	15	99460411	99460411	A	G	IGF1R	c.2201+306A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99460411A>G	(Likely) benign	1 lab	6b7861bf03
2:238285621 COL6A3 C>T	2	238285621	238285621	C	T	COL6A3	c.2864G>A	NM_004369.4	NP_004360.2:p.(Arg955His)	NC_000002.11:g.238285621C>T	VUS	1 lab	6b78f941f3
12:6690853 CHD4 TC>T	12	6690853	6690857	TC	T	CHD4	c.4642del	NM_001273.5	NP_001264.2:p.(Asp1548ThrfsTer17)	NC_000012.11:g.6690857del	VUS	1 lab	6b78ff2a6a
20:10653560 JAG1 C>T	20	10653560	10653560	C	T	JAG1	c.176G>A	NM_000214.3	NP_000205.1:p.(Arg59Gln)	NC_000020.10:g.10653560C>T	(Likely) benign	1 lab	6b791dcf27
12:49427213 KMT2D G>C	12	49427213	49427213	G	C	KMT2D	c.11275C>G	NM_003482.4	NP_003473.3:p.(Gln3759Glu)	NC_000012.11:g.49427213G>C	VUS	1 lab	6b7a9cb7f6
12:13769430 GRIN2B G>A	12	13769430	13769430	G	A	GRIN2B	c.1287C>T	NM_000834.5	NP_000825.2:p.(Cys429=)	NC_000012.11:g.13769430G>A	(Likely) benign	1 lab	6b7a9f18bd
17:28506253 NSRP1 A>C	17	28506253	28506253	A	C	NSRP1	c.446A>C	NM_032141.4	NP_115517.1:p.(Lys149Thr)	NC_000017.10:g.28506253A>C	VUS	1 lab	6b7b4c1d6c
3:100002665 TBC1D23 G>A	3	100002665	100002665	G	A	TBC1D23	c.476+10G>A	NM_001199198.3	NP_001186127.1:p.?	NC_000003.11:g.100002665G>A	(Likely) benign	1 lab	6b7caa963e
15:34030658 RYR3 C>T	15	34030658	34030658	C	T	RYR3	c.7523C>T	NM_001036.6	NP_001027.3:p.(Thr2508Met)	NC_000015.9:g.34030658C>T	(Likely) benign	1 lab	6b7cef7bfb
7:128530953 KCP C>T	7	128530953	128530953	C	T	KCP	c.2164+6G>A	NM_001366122.1	NP_001353051.1:p.?	NC_000007.13:g.128530953C>T	(Likely) benign	1 lab	6b7cff250a
20:49508776 ADNP C>A	20	49508776	49508776	C	A	ADNP	c.2475G>T	NM_001282531.3	NP_001269460.1:p.(Gly825=)	NC_000020.10:g.49508776C>A	(Likely) benign	1 lab	6b7e2b093c
2:163137918 IFIH1 G>A	2	163137918	163137918	G	A	IFIH1	c.1444C>T	NM_022168.4	NP_071451.2:p.(Pro482Ser)	NC_000002.11:g.163137918G>A	VUS	1 lab	6b7ea1e6f4
1:182852676 DHX9 G>A	1	182852676	182852676	G	A	DHX9	c.3166G>A	NM_001357.5	NP_001348.2:p.(Ala1056Thr)	NC_000001.10:g.182852676G>A	VUS	1 lab	6b7f6eb337
7:114329908 FOXP2 C>T	7	114329908	114329908	C	T	FOXP2	c.2075C>T	NM_014491.4	NP_055306.1:p.(Thr692Ile)	NC_000007.13:g.114329908C>T	(Likely) benign	1 lab	6b82238ec4
7:129938654 CPA4 C>A	7	129938654	129938654	C	A	CPA4	c.137C>A	NM_016352.4	NP_057436.2:p.(Ser46Ter)	NC_000007.13:g.129938654C>A	VUS	1 lab	6b84b51a1c
19:59011868 SLC27A5 C>T	19	59011868	59011868	C	T	SLC27A5	c.1377+11G>A	NM_012254.3	NP_036386.1:p.?	NC_000019.9:g.59011868C>T	(Likely) benign	1 lab	363a15d950
22:41504021 EP300 A>G	22	41504021	41504021	A	G	EP300	c.95-9170A>G	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41504021A>G	(Likely) benign	1 lab	6b862755a9
22:50301417 ALG12 T>C	22	50301417	50301417	T	C	ALG12	c.944A>G	NM_024105.4	NP_077010.1:p.(Tyr315Cys)	NC_000022.10:g.50301417T>C	VUS	1 lab	6b8649cf28
16:88786915 PIEZO1 G>A	16	88786915	88786915	G	A	PIEZO1	c.5827C>T	NM_001142864.4	NP_001136336.2:p.(Arg1943Trp)	NC_000016.9:g.88786915G>A	(Likely) benign	1 lab	6b86e68970
2:179396514 TTN C>G	2	179396514	179396514	C	G	TTN	c.104828G>C	NM_001267550.2	NP_001254479.2:p.(Arg34943Pro)	NC_000002.11:g.179396514C>G	VUS	1 lab	6b884eb98a
17:18217944 TOP3A G>A	17	18217944	18217944	G	A	TOP3A	c.149C>T	NM_004618.5	NP_004609.1:p.(Ala50Val)	NC_000017.10:g.18217944G>A	VUS	1 lab	6b885d43bd
9:75404122 TMC1 C>T	9	75404122	75404122	C	T	TMC1	c.1113C>T	NM_138691.3	NP_619636.2:p.(Phe371=)	NC_000009.11:g.75404122C>T	VUS	1 lab	6b8a895565
1:36026509 NCDN G>A	1	36026509	36026509	G	A	NCDN	c.757G>A	NM_014284.3	NP_055099.1:p.(Val253Met)	NC_000001.10:g.36026509G>A	VUS	1 lab	6b8b47a139
6:10709555 PAK1IP1 A>G	6	10709555	10709555	A	G	PAK1IP1	c.1049A>G	NM_017906.3	NP_060376.2:p.(Lys350Arg)	NC_000006.11:g.10709555A>G	(Likely) benign	1 lab	6b8b8065e3
4:72412109 SLC4A4 C>A	4	72412109	72412109	C	A	SLC4A4	c.2485C>A	NM_001098484.3	NP_001091954.1:p.(Leu829Ile)	NC_000004.11:g.72412109C>A	VUS	1 lab	6b8c171549
16:30722073 SRCAP A>G	16	30722073	30722073	A	G	SRCAP	c.1135-2A>G	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30722073A>G	VUS	1 lab	6b8de147cd
11:73753229 C2CD3 C>T	11	73753229	73753229	C	T	C2CD3	c.5530G>A	NM_001286577.2	NP_001273506.1:p.(Glu1844Lys)	NC_000011.9:g.73753229C>T	VUS	1 lab	6b8e76d821
9:135947065 CEL C>A	9	135947065	135947065	C	A	CEL	c.2176C>A	NM_001807.6	NP_001798.3:p.(Pro726Thr)	NC_000009.11:g.135947065C>A	(Likely) benign	1 lab	6b8ec70920
7:129948221 CPA4 G>A	7	129948221	129948221	G	A	CPA4	c.777G>A	NM_016352.4	NP_057436.2:p.(Trp259Ter)	NC_000007.13:g.129948221G>A	(Likely) benign	1 lab	6b90138789
17:26686401 VMA12 C>T	17	26686401	26686401	C	T	VMA12	c.349C>T	NM_152464.3	NP_689677.1:p.(Arg117Trp)	NC_000017.10:g.26686401C>T	VUS	1 lab	6b911a43fe
6:131962646 ENPP3 G>A	6	131962646	131962646	G	A	ENPP3	c.130G>A	NM_005021.5	NP_005012.2:p.(Gly44Arg)	NC_000006.11:g.131962646G>A	VUS	1 lab	6b9312f6ac
17:36623507 ARHGAP23 G>A	17	36623507	36623507	G	A	ARHGAP23	c.1583G>A	NM_001199417.2	NP_001186346.1:p.(Arg528His)	NC_000017.10:g.36623507G>A	(Likely) benign	1 lab	6b93520f4a
7:42007220 GLI3 G>A	7	42007220	42007220	G	A	GLI3	c.2405C>T	NM_000168.6	NP_000159.3:p.(Pro802Leu)	NC_000007.13:g.42007220G>A	(Likely) benign	1 lab	6b945afd16
17:78078805 GAA C>A	17	78078805	78078805	C	A	GAA	c.420C>A	NM_000152.5	NP_000143.2:p.(Asn140Lys)	NC_000017.10:g.78078805C>A	VUS	1 lab	6b94dc7dd7
14:91942742 PPP4R3A C>A	14	91942742	91942742	C	A	PPP4R3A	c.1110+10G>T	NM_001366432.2	NP_001353361.1:p.?	NC_000014.8:g.91942742C>A	(Likely) benign	1 lab	6b963d1767
3:189584570 TP63 C>A	3	189584570	189584570	C	A	TP63	c.866C>A	NM_003722.5	NP_003713.3:p.(Pro289His)	NC_000003.11:g.189584570C>A	VUS	1 lab	6b9802c85a
21:41648033 DSCAM T>C	21	41648033	41648033	T	C	DSCAM	c.2347A>G	NM_001389.5	NP_001380.2:p.(Thr783Ala)	NC_000021.8:g.41648033T>C	VUS	1 lab	6b99248630
16:723088 RHOT2 GCAC>G	16	723088	723096	GCAC	G	RHOT2	c.1694_1696del	NM_138769.3	NP_620124.1:p.(Thr565del)	NC_000016.9:g.723094_723096del	VUS	1 lab	6b9aa209be
15:59064288 MINDY2 G>C	15	59064288	59064288	G	C	MINDY2	c.694G>C	NM_001040450.3	NP_001035540.1:p.(Ala232Pro)	NC_000015.9:g.59064288G>C	(Likely) benign	1 lab	6ba0708399
2:128880764 UGGT1 A>G	2	128880764	128880764	A	G	UGGT1	c.1078A>G	NM_020120.4	NP_064505.1:p.(Ile360Val)	NC_000002.11:g.128880764A>G	VUS	1 lab	6ba1c80be9
6:158540180 SERAC1 G>C	6	158540180	158540180	G	C	SERAC1	c.1189C>G	NM_032861.4	NP_116250.3:p.(Leu397Val)	NC_000006.11:g.158540180G>C	VUS	1 lab	6ba1f83eef
19:7174644 INSR C>T	19	7174644	7174644	C	T	INSR	c.1073G>A	NM_000208.4	NP_000199.2:p.(Arg358Gln)	NC_000019.9:g.7174644C>T	VUS	1 lab	6ba5037588
9:123880790 CNTRL A>T	9	123880790	123880790	A	T	CNTRL	c.1622A>T	NM_007018.6	NP_008949.4:p.(Asp541Val)	NC_000009.11:g.123880790A>T	(Likely) benign	1 lab	6ba52ca207
2:213886864 IKZF2 G>T	2	213886864	213886864	G	T	IKZF2	c.575-10C>A	NM_001387220.1	NP_001374149.1:p.?	NC_000002.11:g.213886864G>T	(Likely) benign	1 lab	6ba5a7f157
14:45605503 FANCM C>T	14	45605503	45605503	C	T	FANCM	c.269C>T	NM_020937.4	NP_065988.1:p.(Pro90Leu)	NC_000014.8:g.45605503C>T	VUS	1 lab	6babbe02e7
18:19751638 GATA6 C>T	18	19751638	19751638	C	T	GATA6	c.533C>T	NM_005257.6	NP_005248.2:p.(Ala178Val)	NC_000018.9:g.19751638C>T	(Likely) benign	1 lab	6bac4cb94b
7:42004217 GLI3 T>C	7	42004217	42004217	T	C	GLI3	c.4454A>G	NM_000168.6	NP_000159.3:p.(Asn1485Ser)	NC_000007.13:g.42004217T>C	VUS	1 lab	6badc83622
16:69377396 TMED6 T>G	16	69377396	69377396	T	G	TMED6	c.637A>C	NM_144676.4	NP_653277.2:p.(Ile213Leu)	NC_000016.9:g.69377396T>G	(Likely) benign	1 lab	6bb08affa1
6:51908463 PKHD1 T>C	6	51908463	51908463	T	C	PKHD1	c.2781A>G	NM_138694.4	NP_619639.3:p.(Gln927=)	NC_000006.11:g.51908463T>C	VUS	1 lab	6bb1130ba6
7:40027452 CDK13 C>T	7	40027452	40027452	C	T	CDK13	c.1466C>T	NM_003718.5	NP_003709.3:p.(Ala489Val)	NC_000007.13:g.40027452C>T	(Likely) benign	1 lab	6bb242ecc9
X:65253454 VSIG4 C>A	X	65253454	65253454	C	A	VSIG4	c.274G>T	NM_007268.3	NP_009199.1:p.(Val92Phe)	NC_000023.10:g.65253454C>A	(Likely) benign	1 lab	6bb7352423
7:150761965 SLC4A2 C>T	7	150761965	150761965	C	T	SLC4A2	c.490C>T	NM_003040.4	NP_003031.3:p.(Arg164Trp)	NC_000007.13:g.150761965C>T	VUS	1 lab	6bb768dd96
20:5294673 PROKR2 C>T	20	5294673	5294673	C	T	PROKR2	c.343G>A	NM_144773.4	NP_658986.1:p.(Val115Met)	NC_000020.10:g.5294673C>T	VUS	1 lab	6bb8409aac
15:85326904 ZNF592 G>A	15	85326904	85326904	G	A	ZNF592	c.998G>A	NM_014630.3	NP_055445.2:p.(Arg333Gln)	NC_000015.9:g.85326904G>A	VUS	1 lab	22479dd260
12:102796363 IGF1 A>G	12	102796363	102796363	A	G	IGF1	c.403-19T>C	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102796363A>G	(Likely) benign	1 lab	6bba82c095
2:191231525 INPP1 GT>G	2	191231525	191231527	GT	G	INPP1	c.372del	NM_001128928.2	NP_001122400.1:p.(Val125PhefsTer31)	NC_000002.11:g.191231527del	VUS	1 lab	6bba896ff2
15:51692470 GLDN C>T	15	51692470	51692470	C	T	GLDN	c.899C>T	NM_181789.4	NP_861454.2:p.(Ala300Val)	NC_000015.9:g.51692470C>T	VUS	1 lab	6bbbbb1595
12:133209297 POLE GC>G	12	133209297	133209303	GC	G	POLE	c.6088del	NM_006231.4	NP_006222.2:p.(Ala2030ProfsTer18)	NC_000012.11:g.133209303del	VUS	1 lab	6bbbc753bb
1:152276782 FLG G>T	1	152276782	152276782	G	T	FLG	c.10580C>A	NM_002016.2	NP_002007.1:p.(Ala3527Glu)	NC_000001.10:g.152276782G>T	(Likely) benign	1 lab	6bbd75c448
15:89843054 FANCI C>T	15	89843054	89843054	C	T	FANCI	c.2660C>T	NM_001113378.2	NP_001106849.1:p.(Ser887Leu)	NC_000015.9:g.89843054C>T	VUS	1 lab	6bbd9d5226
10:71582188 COL13A1 C>T	10	71582188	71582188	C	T	COL13A1	c.358C>T	NM_001368882.1	NP_001355811.1:p.(Pro120Ser)	NC_000010.10:g.71582188C>T	(Likely) benign	1 lab	6bc1e52e82
19:14066816 DCAF15 C>T	19	14066816	14066816	C	T	DCAF15	c.459C>T	NM_138353.4	NP_612362.2:p.(Ile153=)	NC_000019.9:g.14066816C>T	(Likely) benign	1 lab	6bc327d460
7:152099149 KMT2C C>T	7	152099149	152099149	C	T	KMT2C	c.161+33562G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099149C>T	(Likely) benign	1 lab	6bc3702c1f
4:170608858 CLCN3 A>G	4	170608858	170608858	A	G	CLCN3	c.368A>G	NM_001829.4	NP_001820.2:p.(Tyr123Cys)	NC_000004.11:g.170608858A>G	VUS	1 lab	6bc3c1a052
7:103206706 RELN G>C	7	103206706	103206706	G	C	RELN	c.4901C>G	NM_005045.4	NP_005036.2:p.(Ser1634Cys)	NC_000007.13:g.103206706G>C	VUS	1 lab	6bc472c652
3:121634078 SLC15A2 A>G	3	121634078	121634078	A	G	SLC15A2	c.533A>G	NM_021082.4	NP_066568.3:p.(Glu178Gly)	NC_000003.11:g.121634078A>G	VUS	1 lab	6bc48f255a
7:40039058 CDK13 G>A	7	40039058	40039058	G	A	CDK13	c.2141G>A	NM_003718.5	NP_003709.3:p.(Gly714Asp)	NC_000007.13:g.40039058G>A	(Likely) pathogenic	1 lab	6bc59d1d56
16:90106757 DRC4 A>G	16	90106757	90106757	A	G	DRC4	c.1061A>G	NM_001481.3	NP_001472.1:p.(Gln354Arg)	NC_000016.9:g.90106757A>G	(Likely) benign	1 lab	6bc8e8302b
2:216245800 FN1 A>G	2	216245800	216245800	A	G	FN1	c.5168T>C	NM_212482.4	NP_997647.2:p.(Ile1723Thr)	NC_000002.11:g.216245800A>G	(Likely) benign	1 lab	6bc907509d
1:247587728 NLRP3 G>A	1	247587728	247587728	G	A	NLRP3	c.977G>A	NM_001243133.2	NP_001230062.1:p.(Gly326Glu)	NC_000001.10:g.247587728G>A	(Likely) pathogenic	1 lab	23aee2ca05
11:17438513 ABCC8 C>A	11	17438513	17438513	C	A	ABCC8	c.2223-4G>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17438513C>A	(Likely) benign	1 lab	6bc99b72c7
15:89849420 FANCI A>G	15	89849420	89849420	A	G	FANCI	c.3532A>G	NM_001113378.2	NP_001106849.1:p.(Arg1178Gly)	NC_000015.9:g.89849420A>G	VUS	1 lab	6bc9fbe14d
1:154144578 TPM3 C>T	1	154144578	154144578	C	T	TPM3	c.567-614G>A	NM_152263.4	NP_689476.2:p.?	NC_000001.10:g.154144578C>T	(Likely) benign	1 lab	6bcc24e5f0
13:72440443 DACH1 A>ACTG	13	72440443	72440466	A	ACTG	DACH1	c.456_458dup	NM_080759.6	NP_542937.3:p.(Ser163dup)	NC_000013.10:g.72440464_72440466dup	VUS	1 lab	6bcdf9fd5f
16:30970410 SETD1A A>G	16	30970410	30970410	A	G	SETD1A	c.151-2A>G	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970410A>G	(Likely) pathogenic	1 lab	6bd0642304
16:70721998 VAC14 G>C	16	70721998	70721998	G	C	VAC14	c.2187-5C>G	NM_018052.5	NP_060522.3:p.?	NC_000016.9:g.70721998G>C	VUS	1 lab	6bd12e1d0c
14:23872995 MYH6 C>G	14	23872995	23872995	C	G	MYH6	c.736-8G>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872995C>G	VUS	1 lab	6bd18c0143
15:55522666 RAB27A G>A	15	55522666	55522666	G	A	RAB27A	c.172C>T	NM_004580.5	NP_004571.2:p.(Pro58Ser)	NC_000015.9:g.55522666G>A	(Likely) benign	1 lab	23af77e9fa
9:17394994 CNTLN C>T	9	17394994	17394994	C	T	CNTLN	c.2542C>T	NM_017738.4	NP_060208.2:p.(His848Tyr)	NC_000009.11:g.17394994C>T	(Likely) benign	1 lab	6bd1a857aa
X:100500420 DRP2 G>A	X	100500420	100500420	G	A	DRP2	c.1159G>A	NM_001939.3	NP_001930.2:p.(Glu387Lys)	NC_000023.10:g.100500420G>A	VUS	1 lab	6bd30bc8e8
1:171607833 MYOC A>C	1	171607833	171607833	A	C	MYOC	c.634T>G	NM_000261.2	NP_000252.1:p.(Phe212Val)	NC_000001.10:g.171607833A>C	VUS	1 lab	6bd40df68a
2:241533470 CAPN10 TGCTGGG>T	2	241533470	241533478	TGCTGGG	T	CAPN10	c.830+9_830+14del	NM_023083.4	NP_075571.2:p.?	NC_000002.11:g.241533473_241533478del	(Likely) benign	1 lab	6bd511a624
17:40359682 STAT5B G>A	17	40359682	40359682	G	A	STAT5B	c.1971C>T	NM_012448.4	NP_036580.2:p.(Ala657=)	NC_000017.10:g.40359682G>A	(Likely) benign	1 lab	6bd7a4375c
1:16378858 CLCNKB T>C	1	16378858	16378858	T	C	CLCNKB	c.1574T>C	NM_000085.5	NP_000076.2:p.(Ile525Thr)	NC_000001.10:g.16378858T>C	VUS	1 lab	6bd87bf7c7
2:73115518 SPR A>G	2	73115518	73115518	A	G	SPR	c.380A>G	NM_003124.5	NP_003115.1:p.(Asn127Ser)	NC_000002.11:g.73115518A>G	VUS	1 lab	6bd96ccb25
11:124747902 ROBO3 A>G	11	124747902	124747902	A	G	ROBO3	c.3056A>G	NM_022370.4	NP_071765.2:p.(Tyr1019Cys)	NC_000011.9:g.124747902A>G	VUS	1 lab	6bdafbef08
9:130578315 ENG G>A	9	130578315	130578315	G	A	ENG	c.1759C>T	NM_001114753.3	NP_001108225.1:p.(Leu587Phe)	NC_000009.11:g.130578315G>A	VUS	1 lab	6bdb02d918
15:48764807 FBN1 C>G	15	48764807	48764807	C	G	FBN1	c.4277G>C	NM_000138.5	NP_000129.3:p.(Gly1426Ala)	NC_000015.9:g.48764807C>G	VUS	1 lab	6bdda32ada
4:155254355 DCHS2 C>A	4	155254355	155254355	C	A	DCHS2	c.3005G>T	NM_001358235.2	NP_001345164.1:p.(Arg1002Leu)	NC_000004.11:g.155254355C>A	VUS	1 lab	6bddc28cbf
11:85342858 TMEM126B A>ACATTTG	11	85342858	85342859	A	ACATTTG	TMEM126B	c.203+6_203+7insCATTTG	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85342858_85342859insCATTTG	VUS	1 lab	6bde708310
6:99891440 USP45 C>A	6	99891440	99891440	C	A	USP45	c.2073+1G>T	NM_001346022.3	NP_001332951.1:p.?	NC_000006.11:g.99891440C>A	VUS	1 lab	6bdec7786e
8:102656378 GRHL2 C>T	8	102656378	102656378	C	T	GRHL2	c.1537C>T	NM_024915.4	NP_079191.2:p.(Arg513Trp)	NC_000008.10:g.102656378C>T	VUS	1 lab	6be232dbe3
4:48563616 FRYL A>G	4	48563616	48563616	A	G	FRYL	c.3734T>C	NM_015030.2	NP_055845.1:p.(Leu1245Ser)	NC_000004.11:g.48563616A>G	(Likely) benign	1 lab	6be2347579
1:225586807 DNAH14 G>A	1	225586807	225586807	G	A	DNAH14	c.13690G>A	NM_001367479.1	NP_001354408.1:p.(Ala4564Thr)	NC_000001.10:g.225586807G>A	(Likely) benign	1 lab	6be2467fde
10:50680494 ERCC6 A>G	10	50680494	50680494	A	G	ERCC6	c.2852T>C	NM_000124.4	NP_000115.1:p.(Ile951Thr)	NC_000010.10:g.50680494A>G	VUS	1 lab	6be6699b86
7:31016026 GHRHR G>A	7	31016026	31016026	G	A	GHRHR	c.975-18G>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016026G>A	(Likely) benign	1 lab	6be8a8deb7
8:7834645 USP17L3 C>T	8	7834645	7834645	C	T	USP17L3	c.863G>A	NM_001256871.1	NP_001243800.1:p.(Gly288Asp)	NC_000008.10:g.7834645C>T	(Likely) benign	1 lab	6be90c3b4f
16:72992599 ZFHX3 T>TTCC	16	72992599	72992610	T	TTCC	ZFHX3	c.1443_1445dup	NM_006885.4	NP_008816.3:p.(Glu487dup)	NC_000016.9:g.72992608_72992610dup	VUS	1 lab	6bea61e05e
1:145330796 NBPF10 A>T	1	145330796	145330796	A	T	NBPF10	c.4895A>T	NM_001302371.3	NP_001289300.1:p.(Tyr1632Phe)	NC_000001.10:g.145330796A>T	(Likely) benign	1 lab	6beb23977d
18:28916434 DSG1 A>C	18	28916434	28916434	A	C	DSG1	c.1123A>C	NM_001942.4	NP_001933.2:p.(Thr375Pro)	NC_000018.9:g.28916434A>C	(Likely) benign	1 lab	6bebede49e
6:144081637 PHACTR2 T>TGC	6	144081637	144081639	T	TGC	PHACTR2	c.555_556dup	NM_001100164.2	NP_001093634.1:p.(Pro186ArgfsTer102)	NC_000006.11:g.144081638_144081639dup	VUS	1 lab	6becd7c4d8
X:11783695 MSL3 G>T	X	11783695	11783695	G	T	MSL3	c.1018G>T	NM_078629.4	NP_523353.2:p.(Ala340Ser)	NC_000023.10:g.11783695G>T	(Likely) benign	1 lab	6becf7e358
16:9923297 GRIN2A C>T	16	9923297	9923297	C	T	GRIN2A	c.1990G>A	NM_001134407.3	NP_001127879.1:p.(Gly664Ser)	NC_000016.9:g.9923297C>T	VUS	1 lab	6bed9f6cf9
15:48730108 FBN1 C>T	15	48730108	48730108	C	T	FBN1	c.6170G>A	NM_000138.5	NP_000129.3:p.(Arg2057Gln)	NC_000015.9:g.48730108C>T	(Likely) pathogenic	1 lab	6bedb37549
5:38486008 LIFR T>C	5	38486008	38486008	T	C	LIFR	c.2410A>G	NM_001127671.2	NP_001121143.1:p.(Lys804Glu)	NC_000005.9:g.38486008T>C	(Likely) benign	1 lab	6bef1dbf0e
16:11519251 MISSING A>G	16	11519251	11519251	A	G	MISSING				NC_000016.9:g.11519251A>G	VUS	1 lab	6bf1ccb7e5
2:38976812 SRSF7 G>C	2	38976812	38976812	G	C	SRSF7	c.245C>G	NM_001031684.3	NP_001026854.1:p.(Ser82Trp)	NC_000002.11:g.38976812G>C	VUS	1 lab	6bf4f015ba
17:5461902 NLRP1 G>A	17	5461902	5461902	G	A	NLRP1	c.2114C>T	NM_033004.4	NP_127497.1:p.(Pro705Leu)	NC_000017.10:g.5461902G>A	(Likely) benign	1 lab	6bf6218610
20:61982174 CHRNA4 G>A	20	61982174	61982174	G	A	CHRNA4	c.589C>T	NM_000744.7	NP_000735.1:p.(Arg197Cys)	NC_000020.10:g.61982174G>A	(Likely) benign	1 lab	6bf6505dc2
2:71360690 MPHOSPH10 G>A	2	71360690	71360690	G	A	MPHOSPH10	c.752G>A	NM_005791.3	NP_005782.1:p.(Gly251Glu)	NC_000002.11:g.71360690G>A	(Likely) benign	1 lab	6bf847c0a4
19:3985374 EEF2 A>G	19	3985374	3985374	A	G	EEF2	c.3+2T>C	NM_001961.4	NP_001952.1:p.?	NC_000019.9:g.3985374A>G	VUS	1 lab	6bf8a0d5e8
3:129289978 PLXND1 G>A	3	129289978	129289978	G	A	PLXND1	c.3505C>T	NM_015103.3	NP_055918.3:p.(Arg1169Cys)	NC_000003.11:g.129289978G>A	(Likely) benign	1 lab	6bf9611782
9:101984048 ALG2 G>C	9	101984048	101984048	G	C	ALG2	c.129C>G	NM_033087.4	NP_149078.1:p.(Arg43=)	NC_000009.11:g.101984048G>C	(Likely) benign	1 lab	6bf9ecc15d
8:17924803 ASAH1 C>G	8	17924803	17924803	C	G	ASAH1	c.308G>C	NM_177924.5	NP_808592.2:p.(Gly103Ala)	NC_000008.10:g.17924803C>G	(Likely) benign	1 lab	6bfaa7308a
17:8161424 PFAS G>A	17	8161424	8161424	G	A	PFAS	c.1243G>A	NM_012393.3	NP_036525.1:p.(Gly415Ser)	NC_000017.10:g.8161424G>A	(Likely) benign	1 lab	6bfbb3ad45
19:56459491 NLRP8 C>A	19	56459491	56459491	C	A	NLRP8	c.223C>A	NM_176811.2	NP_789781.2:p.(Gln75Lys)	NC_000019.9:g.56459491C>A	(Likely) benign	1 lab	6bfd2e0c0e
X:35820530 MAGEB16 A>G	X	35820530	35820530	A	G	MAGEB16	c.217A>G	NM_001370158.1	NP_001357087.1:p.(Ile73Val)	NC_000023.10:g.35820530A>G	VUS	1 lab	6bfd770254
3:134264578 CEP63 G>A	3	134264578	134264578	G	A	CEP63	c.706G>A	NM_001353108.3	NP_001340037.1:p.(Asp236Asn)	NC_000003.11:g.134264578G>A	VUS	1 lab	6bfda94264
3:48265153 CAMP C>CGGAT	3	48265153	48265158	C	CGGAT	CAMP	c.154_157dup	NM_004345.5	NP_004336.4:p.(Ala53GlyfsTer3)	NC_000003.11:g.48265155_48265158dup	VUS	1 lab	6bfe90f424
14:21837976 SUPT16H C>A	14	21837976	21837976	C	A	SUPT16H	c.563G>T	NM_007192.4	NP_009123.1:p.(Ser188Ile)	NC_000014.8:g.21837976C>A	VUS	1 lab	6bff60bef4
2:27590666 EIF2B4 C>T	2	27590666	27590666	C	T	EIF2B4	c.729G>A	NM_001034116.2	NP_001029288.1:p.(Pro243=)	NC_000002.11:g.27590666C>T	(Likely) benign	1 lab	6bff90588e
19:56173940 U2AF2 T>A	19	56173940	56173940	T	A	U2AF2	c.559T>A	NM_007279.3	NP_009210.1:p.(Leu187Met)	NC_000019.9:g.56173940T>A	VUS	1 lab	6c005776d1
8:41795071 KAT6A G>A	8	41795071	41795071	G	A	KAT6A	c.3055C>T	NM_006766.5	NP_006757.2:p.(Arg1019Ter)	NC_000008.10:g.41795071G>A	(Likely) pathogenic	1 lab	6c00c7d6fd
1:26517263 CATSPER4 A>G	1	26517263	26517263	A	G	CATSPER4	c.145A>G	NM_198137.2	NP_937770.1:p.(Ile49Val)	NC_000001.10:g.26517263A>G	(Likely) benign	1 lab	6c01cf0f6e
11:65987241 PACS1 G>A	11	65987241	65987241	G	A	PACS1	c.1003G>A	NM_018026.4	NP_060496.2:p.(Val335Met)	NC_000011.9:g.65987241G>A	VUS	1 lab	6c02f166b3
14:99976585 CCNK T>C	14	99976585	99976585	T	C	CCNK	c.1209T>C	NM_001099402.2	NP_001092872.1:p.(Pro403=)	NC_000014.8:g.99976585T>C	(Likely) benign	1 lab	6c03a0b1c7
8:2857593 CSMD1 C>A	8	2857593	2857593	C	A	CSMD1	c.8090G>T	NM_033225.6	NP_150094.5:p.(Ser2697Ile)	NC_000008.10:g.2857593C>A	VUS	1 lab	6c041419f0
X:32472777 DMD A>T	X	32472777	32472777	A	T	DMD	c.3603+2T>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32472777A>T	VUS	1 lab	6c047af214
9:131398647 DYNC2I2 G>A	9	131398647	131398647	G	A	DYNC2I2	c.616C>T	NM_052844.4	NP_443076.2:p.(Arg206Cys)	NC_000009.11:g.131398647G>A	(Likely) benign	1 lab	6c067208f0
15:72990433 BBS4 T>C	15	72990433	72990433	T	C	BBS4	c.76+2864T>C	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72990433T>C	VUS	1 lab	6c07857dcb
X:54014379 PHF8 T>C	X	54014379	54014379	T	C	PHF8	c.1731-2A>G	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54014379T>C	VUS	1 lab	6c07b1d3da
12:3747284 CRACR2A C>T	12	3747284	3747284	C	T	CRACR2A	c.1602+6G>A	NM_001144958.2	NP_001138430.1:p.?	NC_000012.11:g.3747284C>T	(Likely) benign	1 lab	23b0cfe0d2
12:6690810 CHD4 C>T	12	6690810	6690810	C	T	CHD4	c.4681+5G>A	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6690810C>T	(Likely) benign	1 lab	6c09205d74
16:1268494 CACNA1H C>T	16	1268494	1268494	C	T	CACNA1H	c.5730C>T	NM_021098.3	NP_066921.2:p.(Asp1910=)	NC_000016.9:g.1268494C>T	(Likely) benign	1 lab	22490d2246
4:54362297 LNX1 C>T	4	54362297	54362297	C	T	LNX1	c.1243G>A	NM_001126328.3	NP_001119800.1:p.(Gly415Ser)	NC_000004.11:g.54362297C>T	VUS	1 lab	6c09b8ecab
15:43109213 TTBK2 C>G	15	43109213	43109213	C	G	TTBK2	c.603+17G>C	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43109213C>G	(Likely) benign	1 lab	23b1248a49
11:819564 PNPLA2 G>T	11	819564	819564	G	T	PNPLA2	c.-145-10G>T	NM_020376.4	NP_065109.1:p.?	NC_000011.9:g.819564G>T	(Likely) benign	1 lab	6c0b7d7e69
4:169799381 PALLD A>C	4	169799381	169799381	A	C	PALLD	c.339A>C	NM_001166110.2	NP_001159582.1:p.(Pro113=)	NC_000004.11:g.169799381A>C	(Likely) benign	1 lab	224abe260a
16:2143996 PKD1 C>T	16	2143996	2143996	C	T	PKD1	c.10637G>A	NM_001009944.3	NP_001009944.3:p.(Arg3546Gln)	NC_000016.9:g.2143996C>T	VUS	1 lab	6c0df9eee9
4:184615191 TRAPPC11 G>A	4	184615191	184615191	G	A	TRAPPC11	c.2508G>A	NM_021942.6	NP_068761.4:p.(Gln836=)	NC_000004.11:g.184615191G>A	VUS	1 lab	6c0ee917a7
7:31011677 GHRHR C>T	7	31011677	31011677	C	T	GHRHR	c.564C>T	NM_000823.4	NP_000814.2:p.(His188=)	NC_000007.13:g.31011677C>T	(Likely) benign	1 lab	6c123b8eae
5:155102 PLEKHG4B G>A	5	155102	155102	G	A	PLEKHG4B	c.2105G>A	NM_052909.5	NP_443141.4:p.(Arg702His)	NC_000005.9:g.155102G>A	(Likely) benign	1 lab	6c13c46853
6:152673278 SYNE1 A>T	6	152673278	152673278	A	T	SYNE1	c.11464T>A	NM_182961.4	NP_892006.3:p.(Ser3822Thr)	NC_000006.11:g.152673278A>T	(Likely) benign	1 lab	6c15224e4d
2:48808926 STON1 A>G	2	48808926	48808926	A	G	STON1	c.1154A>G	NM_006873.4	NP_006864.2:p.(Asp385Gly)	NC_000002.11:g.48808926A>G	VUS	1 lab	6c15f3643b
12:52156447 SCN8A G>A	12	52156447	52156447	G	A	SCN8A	c.2531G>A	NM_001330260.2	NP_001317189.1:p.(Arg844Gln)	NC_000012.11:g.52156447G>A	VUS	1 lab	6c18c4ec14
16:72827531 ZFHX3 G>A	16	72827531	72827531	G	A	ZFHX3	c.9050C>T	NM_006885.4	NP_008816.3:p.(Thr3017Met)	NC_000016.9:g.72827531G>A	VUS	1 lab	6c1b5de6f2
11:71195468 NADSYN1 A>G	11	71195468	71195468	A	G	NADSYN1	c.1430A>G	NM_018161.5	NP_060631.2:p.(Glu477Gly)	NC_000011.9:g.71195468A>G	VUS	1 lab	6c1b6c443a
5:127622545 FBN2 G>C	5	127622545	127622545	G	C	FBN2	c.6881-4C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127622545G>C	(Likely) benign	1 lab	6c1bd0dbd6
11:130319265 ADAMTS15 G>C	11	130319265	130319265	G	C	ADAMTS15	c.397G>C	NM_139055.4	NP_620686.1:p.(Glu133Gln)	NC_000011.9:g.130319265G>C	VUS	1 lab	6c1d1c3e6c
1:161203078 NR1I3 G>A	1	161203078	161203078	G	A	NR1I3	c.289C>T	NM_005122.5	NP_005113.1:p.(Arg97Trp)	NC_000001.10:g.161203078G>A	(Likely) benign	1 lab	6c1d26c1e7
16:841919 CHTF18 G>A	16	841919	841919	G	A	CHTF18	c.1173G>A	NM_022092.3	NP_071375.1:p.(Ala391=)	NC_000016.9:g.841919G>A	VUS	1 lab	6c1f3c1294
19:46281385 DMPK C>T	19	46281385	46281385	C	T	DMPK	c.705G>A	NM_001081563.2	NP_001075032.1:p.(Thr235=)	NC_000019.9:g.46281385C>T	(Likely) benign	1 lab	224f1cd7ea
9:94493443 ROR2 C>G	9	94493443	94493443	C	G	ROR2	c.938-6G>C	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94493443C>G	(Likely) benign	1 lab	6c1fe6741a
20:60895848 LAMA5 A>C	20	60895848	60895848	A	C	LAMA5	c.6595T>G	NM_005560.6	NP_005551.3:p.(Ser2199Ala)	NC_000020.10:g.60895848A>C	(Likely) benign	1 lab	6c2025460f
19:4511789 PLIN4 C>T	19	4511789	4511789	C	T	PLIN4	c.2183G>A	NM_001367868.2	NP_001354797.1:p.(Gly728Asp)	NC_000019.9:g.4511789C>T	(Likely) benign	1 lab	6c20a070b6
3:58140539 FLNB G>A	3	58140539	58140539	G	A	FLNB	c.6656G>A	NM_001457.4	NP_001448.2:p.(Arg2219Gln)	NC_000003.11:g.58140539G>A	VUS	1 lab	6c20bfde41
7:101758562 CUX1 C>T	7	101758562	101758562	C	T	CUX1	c.674+9C>T	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101758562C>T	(Likely) benign	1 lab	6c2347e03b
2:219892626 CFAP65 C>T	2	219892626	219892626	C	T	CFAP65	c.1957G>A	NM_194302.4	NP_919278.2:p.(Val653Ile)	NC_000002.11:g.219892626C>T	(Likely) benign	1 lab	6c247cb750
4:77065449 NUP54 T>C	4	77065449	77065449	T	C	NUP54	c.152-4A>G	NM_017426.4	NP_059122.2:p.?	NC_000004.11:g.77065449T>C	VUS	1 lab	6c24ad0f8c
9:135787661 TSC1 C>G	9	135787661	135787661	C	G	TSC1	c.913+8G>C	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135787661C>G	VUS	1 lab	6c28bc10d1
4:8870054 HMX1 G>C	4	8870054	8870054	G	C	HMX1	c.412C>G	NM_018942.3	NP_061815.2:p.(Pro138Ala)	NC_000004.11:g.8870054G>C	VUS	1 lab	6c2979c921
2:175202264 SP9 C>T	2	175202264	175202264	C	T	SP9	c.1451C>T	NM_001145250.2	NP_001138722.1:p.(Ser484Phe)	NC_000002.11:g.175202264C>T	VUS	1 lab	6c2ba4e85d
3:123512691 MYLK T>C	3	123512691	123512691	T	C	MYLK	c.-3A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123512691T>C	VUS	1 lab	6c2d27de08
8:55371842 SOX17 G>T	8	55371842	55371842	G	T	SOX17	c.532G>T	NM_022454.4	NP_071899.1:p.(Gly178Cys)	NC_000008.10:g.55371842G>T	VUS	1 lab	6c2d475e0f
11:103006265 DYNC2H1 G>T	11	103006265	103006265	G	T	DYNC2H1	c.2247G>T	NM_001377.3	NP_001368.2:p.(Trp749Cys)	NC_000011.9:g.103006265G>T	VUS	1 lab	6c2edddf65
15:99456422 IGF1R A>T	15	99456422	99456422	A	T	IGF1R	c.1739A>T	NM_000875.5	NP_000866.1:p.(Tyr580Phe)	NC_000015.9:g.99456422A>T	VUS	1 lab	6c2fde9c37
17:80049154 FASN C>A	17	80049154	80049154	C	A	FASN	c.1436G>T	NM_004104.5	NP_004095.4:p.(Gly479Val)	NC_000017.10:g.80049154C>A	(Likely) benign	1 lab	6c30e4567e
1:198719695 PTPRC G>A	1	198719695	198719695	G	A	PTPRC	c.3147G>A	NM_002838.5	NP_002829.3:p.(Met1049Ile)	NC_000001.10:g.198719695G>A	VUS	1 lab	225182870e
18:19751595 GATA6 G>A	18	19751595	19751595	G	A	GATA6	c.490G>A	NM_005257.6	NP_005248.2:p.(Gly164Ser)	NC_000018.9:g.19751595G>A	(Likely) benign	1 lab	6c339ed76d
1:87043577 CLCA4 A>G	1	87043577	87043577	A	G	CLCA4	c.1952-8A>G	NM_012128.4	NP_036260.2:p.?	NC_000001.10:g.87043577A>G	(Likely) benign	1 lab	6c3491975e
12:123800168 SBNO1 T>C	12	123800168	123800168	T	C	SBNO1	c.2975A>G	NM_001167856.3	NP_001161328.1:p.(Tyr992Cys)	NC_000012.11:g.123800168T>C	VUS	1 lab	6c3682663a
21:46604883 ADARB1 G>A	21	46604883	46604883	G	A	ADARB1	c.1442G>A	NM_001112.4	NP_001103.1:p.(Arg481Gln)	NC_000021.8:g.46604883G>A	VUS	1 lab	6c39ff8c65
21:47845869 PCNT A>G	21	47845869	47845869	A	G	PCNT	c.7304A>G	NM_006031.6	NP_006022.3:p.(His2435Arg)	NC_000021.8:g.47845869A>G	(Likely) benign	1 lab	6c3af7f273
5:127597562 FBN2 A>C	5	127597562	127597562	A	C	FBN2	c.8230T>G	NM_001999.4	NP_001990.2:p.(Tyr2744Asp)	NC_000005.9:g.127597562A>C	VUS	1 lab	6c3c641603
19:49002501 LMTK3 C>T	19	49002501	49002501	C	T	LMTK3	c.1825G>A	NM_001388485.1	NP_001375414.1:p.(Gly609Ser)	NC_000019.9:g.49002501C>T	VUS	1 lab	6c3c66655c
5:37231087 CPLANE1 G>A	5	37231087	37231087	G	A	CPLANE1	c.1003C>T	NM_001384732.1	NP_001371661.1:p.(Arg335Cys)	NC_000005.9:g.37231087G>A	VUS	1 lab	6c3cbf44d7
10:17659338 HACD1 T>G	10	17659338	17659338	T	G	HACD1	c.1A>C	NM_014241.4	NP_055056.3:p.(Met1?)	NC_000010.10:g.17659338T>G	VUS	1 lab	6c3d89fb29
2:197184569 HECW2 C>G	2	197184569	197184569	C	G	HECW2	c.1045G>C	NM_001348768.2	NP_001335697.1:p.(Gly349Arg)	NC_000002.11:g.197184569C>G	VUS	1 lab	6c3ddd454c
2:28802544 PLB1 C>T	2	28802544	28802544	C	T	PLB1	c.1536C>T	NM_153021.5	NP_694566.4:p.(Gly512=)	NC_000002.11:g.28802544C>T	(Likely) benign	1 lab	6c3e83204e
4:155411120 DCHS2 C>T	4	155411120	155411120	C	T	DCHS2	c.1388G>A	NM_001358235.2	NP_001345164.1:p.(Gly463Glu)	NC_000004.11:g.155411120C>T	(Likely) benign	1 lab	6c3f534237
7:31014667 GHRHR G>C	7	31014667	31014667	G	C	GHRHR	c.882+12G>C	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31014667G>C	(Likely) benign	1 lab	6c3f68e866
15:33091055 FMN1 AC>A	15	33091055	33091056	AC	A	FMN1	c.4079del	NM_001277313.2	NP_001264242.1:p.(Ser1360MetfsTer19)	NC_000015.9:g.33091056del	VUS	1 lab	6c4064a8e5
12:12277551 LRP6 T>C	12	12277551	12277551	T	C	LRP6	c.4495A>G	NM_002336.3	NP_002327.2:p.(Thr1499Ala)	NC_000012.11:g.12277551T>C	VUS	1 lab	6c40952021
1:1452551 ATAD3A G>A	1	1452551	1452551	G	A	ATAD3A	c.283-140G>A	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1452551G>A	(Likely) benign	1 lab	6c416e6979
16:79245501 WWOX C>T	16	79245501	79245501	C	T	WWOX	c.1057-4C>T	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.79245501C>T	(Likely) benign	1 lab	6c42b22977
19:41115428 LTBP4 C>A	19	41115428	41115428	C	A	LTBP4	c.1427-8C>A	NM_001042545.2	NP_001036010.1:p.?	NC_000019.9:g.41115428C>A	(Likely) benign	1 lab	6c4452dda2
11:102822789 MMP13 G>T	11	102822789	102822789	G	T	MMP13	c.751C>A	NM_002427.4	NP_002418.1:p.(His251Asn)	NC_000011.9:g.102822789G>T	(Likely) benign	1 lab	6c4648ef25
16:9934936 GRIN2A C>T	16	9934936	9934936	C	T	GRIN2A	c.1354G>A	NM_001134407.3	NP_001127879.1:p.(Val452Met)	NC_000016.9:g.9934936C>T	(Likely) benign	1 lab	6c46d47eb0
X:63410720 AMER1 C>T	X	63410720	63410720	C	T	AMER1	c.2447G>A	NM_152424.4	NP_689637.3:p.(Arg816Gln)	NC_000023.10:g.63410720C>T	(Likely) benign	1 lab	6c475e1974
3:46940335 PTH1R C>CGCT	3	46940335	46940340	C	CGCT	PTH1R	c.825_827dup	NM_000316.3	NP_000307.1:p.(Ala276dup)	NC_000003.11:g.46940338_46940340dup	VUS	1 lab	6c49903c37
8:144995574 PLEC C>T	8	144995574	144995574	C	T	PLEC	c.8415G>A	NM_201384.3	NP_958786.1:p.(Leu2805=)	NC_000008.10:g.144995574C>T	VUS	1 lab	6c4a159c1d
15:89392939 ACAN G>A	15	89392939	89392939	G	A	ACAN	c.2003G>A	NM_001369268.1	NP_001356197.1:p.(Arg668Gln)	NC_000015.9:g.89392939G>A	(Likely) benign	1 lab	6c4a5a1c0f
17:78188445 SGSH C>T	17	78188445	78188445	C	T	SGSH	c.475G>A	NM_000199.5	NP_000190.1:p.(Val159Ile)	NC_000017.10:g.78188445C>T	VUS	1 lab	6c4abfce1d
X:70389792 NLGN3 C>T	X	70389792	70389792	C	T	NLGN3	c.2392C>T	NM_181303.2	NP_851820.1:p.(Arg798Cys)	NC_000023.10:g.70389792C>T	VUS	1 lab	6c4af19265
X:41587148 CASK CAA>C	X	41587148	41587154	CAA	C	CASK	c.429+11487_429+11488del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41587153_41587154del	VUS	1 lab	6c4b0db0a8
8:77765948 ZFHX4 A>G	8	77765948	77765948	A	G	ZFHX4	c.6791A>G	NM_024721.5	NP_078997.4:p.(Asn2264Ser)	NC_000008.10:g.77765948A>G	VUS	1 lab	6c4bf4dea7
2:223066765 PAX3 C>T	2	223066765	223066765	C	T	PAX3	c.1318G>A	NM_181458.4	NP_852123.1:p.(Asp440Asn)	NC_000002.11:g.223066765C>T	VUS	1 lab	6c4d5cefdf
17:48704077 CACNA1G G>A	17	48704077	48704077	G	A	CACNA1G	c.7099G>A	NM_018896.5	NP_061496.2:p.(Gly2367Ser)	NC_000017.10:g.48704077G>A	(Likely) benign	1 lab	6c4e62dfc2
6:51524168 PKHD1 T>C	6	51524168	51524168	T	C	PKHD1	c.10756A>G	NM_138694.4	NP_619639.3:p.(Asn3586Asp)	NC_000006.11:g.51524168T>C	VUS	1 lab	6c4e705841
2:179480494 TTN G>C	2	179480494	179480494	G	C	TTN	c.48334C>G	NM_001267550.2	NP_001254479.2:p.(Leu16112Val)	NC_000002.11:g.179480494G>C	VUS	1 lab	6c4fd060dd
8:141445265 TRAPPC9 G>A	8	141445265	141445265	G	A	TRAPPC9	c.805C>T	NM_001160372.4	NP_001153844.1:p.(Arg269Trp)	NC_000008.10:g.141445265G>A	VUS	1 lab	6c4fd7f32b
X:55035662 ALAS2 C>T	X	55035662	55035662	C	T	ALAS2	c.1715G>A	NM_000032.5	NP_000023.2:p.(Arg572His)	NC_000023.10:g.55035662C>T	(Likely) pathogenic	1 lab	6c50a9f693
5:42689025 GHR G>A	5	42689025	42689025	G	A	GHR	c.170G>A	NM_000163.5	NP_000154.1:p.(Arg57His)	NC_000005.9:g.42689025G>A	VUS	1 lab	6c5175003f
18:67718788 RTTN T>C	18	67718788	67718788	T	C	RTTN	c.5186-4A>G	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67718788T>C	(Likely) benign	1 lab	6c51f1c3f4
1:8716104 RERE G>A	1	8716104	8716104	G	A	RERE	c.253C>T	NM_001042681.2	NP_001036146.1:p.(Arg85Cys)	NC_000001.10:g.8716104G>A	(Likely) benign	1 lab	6c52e52edf
19:1455153 APC2 T>C	19	1455153	1455153	T	C	APC2	c.419T>C	NM_005883.3	NP_005874.1:p.(Phe140Ser)	NC_000019.9:g.1455153T>C	(Likely) benign	1 lab	6c5320921a
7:128498075 FLNC C>T	7	128498075	128498075	C	T	FLNC	c.7794C>T	NM_001458.4	NP_001449.3:p.(Ser2598=)	NC_000007.13:g.128498075C>T	(Likely) benign	1 lab	23b58cd288
1:152277619 FLG C>G	1	152277619	152277619	C	G	FLG	c.9743G>C	NM_002016.2	NP_002007.1:p.(Arg3248Thr)	NC_000001.10:g.152277619C>G	(Likely) benign	1 lab	6c53cda6f3
3:124953178 ZNF148 C>T	3	124953178	124953178	C	T	ZNF148	c.668-5G>A	NM_021964.3	NP_068799.2:p.?	NC_000003.11:g.124953178C>T	(Likely) benign	1 lab	225c1fadbd
4:103808478 CISD2 T>C	4	103808478	103808478	T	C	CISD2	c.319-20T>C	NM_001008388.5	NP_001008389.1:p.?	NC_000004.11:g.103808478T>C	(Likely) benign	1 lab	6c540ce290
1:17316489 ATP13A2 G>C	1	17316489	17316489	G	C	ATP13A2	c.2422C>G	NM_022089.4	NP_071372.1:p.(Gln808Glu)	NC_000001.10:g.17316489G>C	VUS	1 lab	6c5416c621
17:42636579 FZD2 C>T	17	42636579	42636579	C	T	FZD2	c.1523C>T	NM_001466.4	NP_001457.1:p.(Ala508Val)	NC_000017.10:g.42636579C>T	(Likely) benign	1 lab	6c54c8882b
15:41803644 LTK T>A	15	41803644	41803644	T	A	LTK	c.790A>T	NM_002344.6	NP_002335.2:p.(Ser264Cys)	NC_000015.9:g.41803644T>A	(Likely) benign	1 lab	6c56643fa1
5:52218713 ITGA1 A>C	5	52218713	52218713	A	C	ITGA1	c.2399A>C	NM_181501.2	NP_852478.1:p.(Glu800Ala)	NC_000005.9:g.52218713A>C	VUS	1 lab	6c56c04f5f
X:135477653 ADGRG4 G>T	X	135477653	135477653	G	T	ADGRG4	c.8184+1G>T	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135477653G>T	(Likely) benign	1 lab	6c5710d006
19:38956902 RYR1 G>A	19	38956902	38956902	G	A	RYR1	c.3042G>A	NM_000540.2	NP_000531.2:p.(Ala1014=)	NC_000019.9:g.38956902G>A	(Likely) benign	1 lab	23b7c03698
2:220421227 OBSL1 C>T	2	220421227	220421227	C	T	OBSL1	c.4285G>A	NM_015311.3	NP_056126.1:p.(Val1429Met)	NC_000002.11:g.220421227C>T	VUS	1 lab	6c5a5f540a
2:25463509 DNMT3A C>A	2	25463509	25463509	C	A	DNMT3A	c.2173G>T	NM_022552.5	NP_072046.2:p.(Glu725Ter)	NC_000002.11:g.25463509C>A	(Likely) pathogenic	1 lab	6c5a70c77d
12:118199027 KSR2 G>A	12	118199027	118199027	G	A	KSR2	c.775C>T	NM_173598.6	NP_775869.4:p.(Arg259Cys)	NC_000012.11:g.118199027G>A	VUS	1 lab	6c5a9ed17e
8:144875168 SCRIB G>A	8	144875168	144875168	G	A	SCRIB	c.3995C>T	NM_182706.5	NP_874365.3:p.(Pro1332Leu)	NC_000008.10:g.144875168G>A	(Likely) benign	1 lab	6c5ad51d01
8:95523661 VIRMA G>T	8	95523661	95523661	G	T	VIRMA	c.3142C>A	NM_015496.5	NP_056311.2:p.(Pro1048Thr)	NC_000008.10:g.95523661G>T	VUS	1 lab	6c5b02c237
6:15293225 JARID2 T>C	6	15293225	15293225	T	C	JARID2	c.45+46410T>C	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15293225T>C	VUS	1 lab	6c5c11c5fa
8:143956368 CYP11B1 C>G	8	143956368	143956368	C	G	CYP11B1	c.1398+5G>C	NM_000497.4	NP_000488.3:p.?	NC_000008.10:g.143956368C>G	VUS	1 lab	6c5f46caca
2:233408325 CHRNG C>A	2	233408325	233408325	C	A	CHRNG	c.951C>A	NM_005199.5	NP_005190.4:p.(Ile317=)	NC_000002.11:g.233408325C>A	(Likely) benign	1 lab	6c5fc51eee
1:39853912 MACF1 C>T	1	39853912	39853912	C	T	MACF1	c.15398C>T	NM_001394062.1	NP_001380991.1:p.(Ser5133Phe)	NC_000001.10:g.39853912C>T	(Likely) benign	1 lab	6c60d3deb9
X:41027350 USP9X A>G	X	41027350	41027350	A	G	USP9X	c.2515A>G	NM_001039591.3	NP_001034680.2:p.(Ser839Gly)	NC_000023.10:g.41027350A>G	VUS	1 lab	6c611f839e
18:48581268 SMAD4 C>T	18	48581268	48581268	C	T	SMAD4	c.572C>T	NM_005359.6	NP_005350.1:p.(Ser191Leu)	NC_000018.9:g.48581268C>T	(Likely) benign	1 lab	6c6162c6f7
17:17701079 RAI1 C>T	17	17701079	17701079	C	T	RAI1	c.4817C>T	NM_030665.4	NP_109590.3:p.(Ala1606Val)	NC_000017.10:g.17701079C>T	(Likely) benign	1 lab	6c61c9f8cd
9:27229517 TEK C>T	9	27229517	27229517	C	T	TEK	c.*287C>T	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27229517C>T	(Likely) benign	1 lab	6c62066fba
2:152423998 NEB C>T	2	152423998	152423998	C	T	NEB	c.17845-5G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152423998C>T	(Likely) benign	1 lab	6c64add181
9:16552572 BNC2 G>A	9	16552572	16552572	G	A	BNC2	c.625C>T	NM_017637.6	NP_060107.3:p.(Leu209Phe)	NC_000009.11:g.16552572G>A	(Likely) benign	1 lab	6c6503c79e
2:179595707 TTN G>A	2	179595707	179595707	G	A	TTN	c.17685C>T	NM_001267550.1	NP_001254479.1:p.(Phe5895=)	NC_000002.11:g.179595707G>A	(Likely) benign	1 lab	23bab1b834
7:44184794 GCK G>A	7	44184794	44184794	G	A	GCK	c.1339C>T	NM_000162.5	NP_000153.1:p.(Arg447Trp)	NC_000007.13:g.44184794G>A	(Likely) pathogenic	1 lab	6c651a4fb0
16:778096 HAGHL CCCCG>C	16	778096	778113	CCCCG	C	HAGHL	c.171-6_171-3del	NM_032304.4	NP_115680.1:p.?	NC_000016.9:g.778110_778113del	(Likely) benign	1 lab	6c654fac30
10:71716804 COL13A1 G>T	10	71716804	71716804	G	T	COL13A1	c.2184+6G>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71716804G>T	(Likely) benign	1 lab	6c655964d3
17:26904770 SPAG5 C>G	17	26904770	26904770	C	G	SPAG5	c.3529G>C	NM_006461.4	NP_006452.3:p.(Glu1177Gln)	NC_000017.10:g.26904770C>G	VUS	1 lab	6c667cc220
9:116060212 RNF183 G>A	9	116060212	116060212	G	A	RNF183	c.253C>T	NM_001371237.1	NP_001358166.1:p.(Arg85Cys)	NC_000009.11:g.116060212G>A	(Likely) benign	1 lab	6c66dbf22d
19:15292497 NOTCH3 G>A	19	15292497	15292497	G	A	NOTCH3	c.2682C>T	NM_000435.3	NP_000426.2:p.(Asn894=)	NC_000019.9:g.15292497G>A	VUS	1 lab	6c691e1578
15:60795787 RORA A>G	15	60795787	60795787	A	G	RORA	c.1022T>C	NM_134261.3	NP_599023.1:p.(Ile341Thr)	NC_000015.9:g.60795787A>G	VUS	1 lab	6d9a5cf018
15:50897117 TRPM7 A>C	15	50897117	50897117	A	C	TRPM7	c.2934T>G	NM_017672.6	NP_060142.3:p.(Asp978Glu)	NC_000015.9:g.50897117A>C	(Likely) benign	1 lab	6c6985717b
19:18778940 KLHL26 A>AGCCACGTGCTCT	19	18778940	18778957	A	AGCCACGTGCTCT	KLHL26	c.739_750dup	NM_018316.3	NP_060786.1:p.(Val247_His250dup)	NC_000019.9:g.18778946_18778957dup	VUS	1 lab	6c698f82e5
9:2191314 SMARCA2 G>T	9	2191314	2191314	G	T	SMARCA2	c.4643G>T	NM_003070.5	NP_003061.3:p.(Gly1548Val)	NC_000009.11:g.2191314G>T	(Likely) benign	1 lab	6c69ca1f78
X:55116536 PAGE2 T>C	X	55116536	55116536	T	C	PAGE2	c.83T>C	NM_207339.4	NP_997222.1:p.(Ile28Thr)	NC_000023.10:g.55116536T>C	(Likely) benign	1 lab	6c69f6fe4d
4:85678098 WDFY3 C>T	4	85678098	85678098	C	T	WDFY3	c.5405G>A	NM_014991.6	NP_055806.2:p.(Arg1802Gln)	NC_000004.11:g.85678098C>T	(Likely) benign	1 lab	6c6ab23fd7
2:182542603 NEUROD1 G>A	2	182542603	182542603	G	A	NEUROD1	c.985C>T	NM_002500.5	NP_002491.3:p.(Pro329Ser)	NC_000002.11:g.182542603G>A	VUS	1 lab	6c6ad38b55
21:41710166 DSCAM G>A	21	41710166	41710166	G	A	DSCAM	c.1645C>T	NM_001389.5	NP_001380.2:p.(Arg549Cys)	NC_000021.8:g.41710166G>A	VUS	1 lab	6c6d48ca7b
2:179480096 TTN A>T	2	179480096	179480096	A	T	TTN	c.48576T>A	NM_001267550.2	NP_001254479.2:p.(Val16192=)	NC_000002.11:g.179480096A>T	(Likely) benign	1 lab	6c6eaf4cd7
15:90167853 TICRR C>T	15	90167853	90167853	C	T	TICRR	c.4312C>T	NM_152259.4	NP_689472.3:p.(Arg1438Trp)	NC_000015.9:g.90167853C>T	VUS	1 lab	6c6f6b515a
6:75887423 COL12A1 G>A	6	75887423	75887423	G	A	COL12A1	c.2393C>T	NM_004370.6	NP_004361.3:p.(Ser798Leu)	NC_000006.11:g.75887423G>A	VUS	1 lab	6c712e89fc
15:80472559 FAH A>C	15	80472559	80472559	A	C	FAH	c.1054A>C	NM_000137.4	NP_000128.1:p.(Ser352Arg)	NC_000015.9:g.80472559A>C	VUS	1 lab	6c7193212b
5:86672852 RASA1 T>G	5	86672852	86672852	T	G	RASA1	c.2339T>G	NM_002890.3	NP_002881.1:p.(Met780Arg)	NC_000005.9:g.86672852T>G	VUS	1 lab	6c71e2f6a6
22:42195260 MEI1 G>T	22	42195260	42195260	G	T	MEI1	c.3782G>T	NM_152513.4	NP_689726.3:p.(Cys1261Phe)	NC_000022.10:g.42195260G>T	VUS	1 lab	6c72231b54
9:140039083 GRIN1 T>A	9	140039083	140039083	T	A	GRIN1	c.394-1095T>A	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140039083T>A	(Likely) benign	1 lab	6c7233014e
X:19380975 MAP3K15 TA>T	X	19380975	19380992	TA	T	MAP3K15	c.3567-8del	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19380992del	VUS	1 lab	6c72a0ee35
17:79818341 P4HB G>A	17	79818341	79818341	G	A	P4HB	c.7C>T	NM_000918.4	NP_000909.2:p.(Arg3Cys)	NC_000017.10:g.79818341G>A	(Likely) benign	1 lab	6c73c59845
11:64023008 PLCB3 A>C	11	64023008	64023008	A	C	PLCB3	c.522-5A>C	NM_000932.5	NP_000923.1:p.?	NC_000011.9:g.64023008A>C	(Likely) benign	1 lab	6c73cd6d9d
17:40371315 STAT5B G>A	17	40371315	40371315	G	A	STAT5B	c.833+15C>T	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40371315G>A	(Likely) benign	1 lab	6c743cf3d3
10:76074462 ADK C>T	10	76074462	76074462	C	T	ADK	c.232C>T	NM_006721.4	NP_006712.2:p.(His78Tyr)	NC_000010.10:g.76074462C>T	(Likely) benign	1 lab	6c74833c15
3:52384043 DNAH1 T>G	3	52384043	52384043	T	G	DNAH1	c.2565T>G	NM_015512.5	NP_056327.4:p.(Tyr855Ter)	NC_000003.11:g.52384043T>G	VUS	1 lab	6c759d030b
19:42798460 CIC C>A	19	42798460	42798460	C	A	CIC	c.7054+4C>A	NM_001386298.1	NP_001373227.1:p.?	NC_000019.9:g.42798460C>A	(Likely) benign	1 lab	6c76879973
13:115091623 CHAMP1 G>A	13	115091623	115091623	G	A	CHAMP1	c.2306G>A	NM_032436.4	NP_115812.1:p.(Arg769His)	NC_000013.10:g.115091623G>A	(Likely) benign	1 lab	6c78bee993
14:103574016 EXOC3L4 C>T	14	103574016	103574016	C	T	EXOC3L4	c.1750C>T	NM_001077594.2	NP_001071062.1:p.(Arg584Trp)	NC_000014.8:g.103574016C>T	VUS	1 lab	6c7a9ce1db
5:67589652 PIK3R1 G>A	5	67589652	67589652	G	A	PIK3R1	c.1415G>A	NM_181523.3	NP_852664.1:p.(Arg472His)	NC_000005.9:g.67589652G>A	VUS	1 lab	6c7a9eb183
17:2576041 PAFAH1B1 G>A	17	2576041	2576041	G	A	PAFAH1B1	c.661G>A	NM_000430.4	NP_000421.1:p.(Val221Met)	NC_000017.10:g.2576041G>A	VUS	1 lab	6c7b52af9f
19:33353574 SLC7A9 A>AT	19	33353574	33353589	A	AT	SLC7A9	c.479-83dup	NM_001243036.2	NP_001229965.1:p.?	NC_000019.9:g.33353589dup	(Likely) benign	1 lab	23bab3ebec
17:39296188 KRTAP4-6 G>C	17	39296188	39296188	G	C	KRTAP4-6	c.552C>G	NM_030976.2	NP_112238.1:p.(Cys184Trp)	NC_000017.10:g.39296188G>C	VUS	1 lab	6c7ca177df
10:101489475 COX15 C>T	10	101489475	101489475	C	T	COX15	c.107G>A	NM_078470.6	NP_510870.1:p.(Arg36His)	NC_000010.10:g.101489475C>T	VUS	1 lab	6c7d0c60b7
X:152721052 HAUS7 G>A	X	152721052	152721052	G	A	HAUS7	c.878C>T	NM_001385482.1	NP_001372411.1:p.(Pro293Leu)	NC_000023.10:g.152721052G>A	(Likely) benign	1 lab	6c7d6fef41
7:104751925 KMT2E T>C	7	104751925	104751925	T	C	KMT2E	c.4069-347T>C	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104751925T>C	VUS	1 lab	6c7fa8670b
17:1174416 BHLHA9 C>G	17	1174416	1174416	C	G	BHLHA9	c.559C>G	NM_001164405.2	NP_001157877.1:p.(Arg187Gly)	NC_000017.10:g.1174416C>G	VUS	1 lab	6c801f9222
5:154311814 GEMIN5 A>G	5	154311814	154311814	A	G	GEMIN5	c.510-4T>C	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154311814A>G	(Likely) benign	1 lab	6c802a44c5
20:61992498 CHRNA4 C>T	20	61992498	61992498	C	T	CHRNA4	c.20G>A	NM_000744.7	NP_000735.1:p.(Gly7Glu)	NC_000020.10:g.61992498C>T	VUS	1 lab	6c826177e0
14:58926751 KIAA0586 G>C	14	58926751	58926751	G	C	KIAA0586	c.1847G>C	NM_001329943.3	NP_001316872.1:p.(Gly616Ala)	NC_000014.8:g.58926751G>C	VUS	1 lab	6c82938a80
17:73951993 ACOX1 G>T	17	73951993	73951993	G	T	ACOX1	c.574C>A	NM_004035.7	NP_004026.2:p.(Gln192Lys)	NC_000017.10:g.73951993G>T	VUS	1 lab	2262d30d6e
1:161645058 FCGR2B T>G	1	161645058	161645058	T	G	FCGR2B	c.772T>G	NM_001394477.1	NP_001381406.1:p.(Tyr258Asp)	NC_000001.10:g.161645058T>G	(Likely) benign	1 lab	6c83b319fd
19:11537005 ODAD3 C>T	19	11537005	11537005	C	T	ODAD3	c.922G>A	NM_145045.5	NP_659482.3:p.(Ala308Thr)	NC_000019.9:g.11537005C>T	(Likely) benign	1 lab	6c850a8b40
12:116421103 MED13L A>G	12	116421103	116421103	A	G	MED13L	c.4774T>C	NM_015335.5	NP_056150.1:p.(Ser1592Pro)	NC_000012.11:g.116421103A>G	(Likely) benign	1 lab	6c857fda27
2:73679805 ALMS1 A>G	2	73679805	73679805	A	G	ALMS1	c.6151A>G	NM_001378454.1	NP_001365383.1:p.(Thr2051Ala)	NC_000002.11:g.73679805A>G	VUS	1 lab	6c85ea653b
3:160000274 IFT80 A>C	3	160000274	160000274	A	C	IFT80	c.1508T>G	NM_020800.3	NP_065851.1:p.(Ile503Ser)	NC_000003.11:g.160000274A>C	(Likely) benign	1 lab	6c86a65d6e
17:13972945 COX10 T>C	17	13972945	13972945	T	C	COX10	c.23T>C	NM_001303.4	NP_001294.2:p.(Leu8Pro)	NC_000017.10:g.13972945T>C	VUS	1 lab	2263d0058f
11:1955168 TNNT3 G>A	11	1955168	1955168	G	A	TNNT3	c.296G>A	NM_006757.4	NP_006748.1:p.(Arg99His)	NC_000011.9:g.1955168G>A	VUS	1 lab	6db18407c2
19:38899501 FAM98C CAAG>C	19	38899501	38899519	CAAG	C	FAM98C	c.1045_1047del	NM_174905.4	NP_777565.3:p.(Lys349Ter)	NC_000019.9:g.38899517_38899519del	(Likely) benign	1 lab	6c87438a9f
10:12162832 DHTKD1 T>G	10	12162832	12162832	T	G	DHTKD1	c.2705T>G	NM_018706.7	NP_061176.4:p.(Ile902Ser)	NC_000010.10:g.12162832T>G	VUS	1 lab	6c894581f5
7:47840453 PKD1L1 C>T	7	47840453	47840453	C	T	PKD1L1	c.7987G>A	NM_138295.5	NP_612152.1:p.(Ala2663Thr)	NC_000007.13:g.47840453C>T	(Likely) benign	1 lab	6c8a85936d
8:48874244 MCM4 C>T	8	48874244	48874244	C	T	MCM4	c.235+4C>T	NM_005914.4	NP_005905.2:p.?	NC_000008.10:g.48874244C>T	(Likely) benign	1 lab	23bee79f5a
1:39896530 MACF1 A>G	1	39896530	39896530	A	G	MACF1	c.17287A>G	NM_001394062.1	NP_001380991.1:p.(Ile5763Val)	NC_000001.10:g.39896530A>G	(Likely) benign	1 lab	6c8bb8fc63
6:117246686 RFX6 G>A	6	117246686	117246686	G	A	RFX6	c.1749G>A	NM_173560.4	NP_775831.2:p.(Met583Ile)	NC_000006.11:g.117246686G>A	(Likely) benign	1 lab	6c8c20e9b2
2:220309685 SPEG G>A	2	220309685	220309685	G	A	SPEG	c.617G>A	NM_005876.5	NP_005867.3:p.(Arg206His)	NC_000002.11:g.220309685G>A	(Likely) benign	1 lab	6c8f229b5c
20:17596078 RRBP1 T>C	20	17596078	17596078	T	C	RRBP1	c.4048A>G	NM_001365613.2	NP_001352542.1:p.(Lys1350Glu)	NC_000020.10:g.17596078T>C	VUS	1 lab	6c92b74c66
X:2700131 XG C>T	X	2700131	2700131	C	T	XG	c.152C>T	NM_001141919.2	NP_001135391.1:p.(Pro51Leu)	NC_000023.10:g.2700131C>T	VUS	1 lab	22647df176
15:99251266 IGF1R G>A	15	99251266	99251266	G	A	IGF1R	c.570G>A	NM_000875.5	NP_000866.1:p.(Pro190=)	NC_000015.9:g.99251266G>A	(Likely) benign	1 lab	6c9568c9bd
3:173998813 NLGN1 T>C	3	173998813	173998813	T	C	NLGN1	c.2252T>C	NM_001365925.2	NP_001352854.1:p.(Met751Thr)	NC_000003.11:g.173998813T>C	VUS	1 lab	6c968c04fa
7:144096839 NOBOX A>G	7	144096839	144096839	A	G	NOBOX	c.1154+11T>C	NM_001080413.3	NP_001073882.3:p.?	NC_000007.13:g.144096839A>G	(Likely) benign	1 lab	2264a7343d
7:47925324 PKD1L1 C>T	7	47925324	47925324	C	T	PKD1L1	c.3165G>A	NM_138295.5	NP_612152.1:p.(Glu1055=)	NC_000007.13:g.47925324C>T	(Likely) benign	1 lab	6c991b3417
6:152570334 SYNE1 C>G	6	152570334	152570334	C	G	SYNE1	c.19534G>C	NM_182961.4	NP_892006.3:p.(Ala6512Pro)	NC_000006.11:g.152570334C>G	VUS	1 lab	6c9a06ef1f
10:131639294 EBF3 C>A	10	131639294	131639294	C	A	EBF3	c.1375G>T	NM_001375380.1	NP_001362309.1:p.(Gly459Cys)	NC_000010.10:g.131639294C>A	(Likely) benign	1 lab	6c9bdda166
11:17483202 ABCC8 G>A	11	17483202	17483202	G	A	ABCC8	c.750C>T	NM_000352.6	NP_000343.2:p.(Ile250=)	NC_000011.9:g.17483202G>A	(Likely) benign	1 lab	6c9e114491
8:17579350 MTUS1 T>TA	8	17579350	17579353	T	TA	MTUS1	c.2449+1830dup	NM_001363059.2	NP_001349988.1:p.?	NC_000008.10:g.17579353dup	VUS	1 lab	6c9ee6729a
7:94285352 SGCE C>T	7	94285352	94285352	C	T	SGCE	c.59G>A	NM_003919.3	NP_003910.1:p.(Arg20Gln)	NC_000007.13:g.94285352C>T	(Likely) benign	1 lab	6c9f6ce82c
19:40741187 AKT2 C>T	19	40741187	40741187	C	T	AKT2	c.1246G>A	NM_001626.6	NP_001617.1:p.(Asp416Asn)	NC_000019.9:g.40741187C>T	(Likely) benign	1 lab	6c9fdb4d07
22:29120997 CHEK2 G>T	22	29120997	29120997	G	T	CHEK2	c.560C>A	NM_007194.4	NP_009125.1:p.(Ser187Tyr)	NC_000022.10:g.29120997G>T	VUS	1 lab	6ca0a4a935
5:149450142 CSF1R A>G	5	149450142	149450142	A	G	CSF1R	c.1083-8T>C	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149450142A>G	(Likely) benign	1 lab	6ca13b5dd0
12:55420867 NEUROD4 G>T	12	55420867	55420867	G	T	NEUROD4	c.644G>T	NM_021191.3	NP_067014.2:p.(Gly215Val)	NC_000012.11:g.55420867G>T	VUS	1 lab	6ca17c2e70
1:11199666 MTOR G>A	1	11199666	11199666	G	A	MTOR	c.4922C>T	NM_004958.4	NP_004949.1:p.(Ser1641Phe)	NC_000001.10:g.11199666G>A	VUS	1 lab	6ca1f55e66
X:105153813 NRK G>A	X	105153813	105153813	G	A	NRK	c.2180G>A	NM_198465.4	NP_940867.2:p.(Arg727His)	NC_000023.10:g.105153813G>A	(Likely) benign	1 lab	6ca5e53895
11:85956389 EED A>C	11	85956389	85956389	A	C	EED	c.114+4A>C	NM_003797.5	NP_003788.2:p.?	NC_000011.9:g.85956389A>C	(Likely) benign	1 lab	6ca6a72a31
11:6662454 DCHS1 C>A	11	6662454	6662454	C	A	DCHS1	c.391G>T	NM_003737.4	NP_003728.1:p.(Val131Leu)	NC_000011.9:g.6662454C>A	(Likely) benign	1 lab	6ca7d4383f
7:44186127 GCK C>G	7	44186127	44186127	C	G	GCK	c.954G>C	NM_000162.5	NP_000153.1:p.(Gly318=)	NC_000007.13:g.44186127C>G	(Likely) benign	1 lab	6ca81b38d8
1:112298779 DDX20 G>A	1	112298779	112298779	G	A	DDX20	c.233G>A	NM_007204.5	NP_009135.4:p.(Arg78Gln)	NC_000001.10:g.112298779G>A	(Likely) benign	1 lab	6ca8ffcd60
12:6954823 GNB3 A>G	12	6954823	6954823	A	G	GNB3	c.773A>G	NM_002075.4	NP_002066.1:p.(Asp258Gly)	NC_000012.11:g.6954823A>G	VUS	1 lab	6ca98d2265
1:214209047 PROX1 C>T	1	214209047	214209047	C	T	PROX1	c.2084C>T	NM_001270616.2	NP_001257545.1:p.(Ala695Val)	NC_000001.10:g.214209047C>T	VUS	1 lab	6caaa10151
12:56572795 SMARCC2 G>A	12	56572795	56572795	G	A	SMARCC2	c.1127C>T	NM_001330288.2	NP_001317217.1:p.(Thr376Ile)	NC_000012.11:g.56572795G>A	(Likely) benign	1 lab	6cabc23dd2
19:11537603 ODAD3 G>A	19	11537603	11537603	G	A	ODAD3	c.614C>T	NM_145045.5	NP_659482.3:p.(Thr205Ile)	NC_000019.9:g.11537603G>A	(Likely) benign	1 lab	6cac2df861
6:51720887 PKHD1 G>GA	6	51720887	51720895	G	GA	PKHD1	c.7734-20dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51720895dup	(Likely) benign	1 lab	6cad10a996
2:230638808 TRIP12 C>T	2	230638808	230638808	C	T	TRIP12	c.5694+5G>A	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230638808C>T	(Likely) pathogenic	1 lab	6caf42854f
5:127493857 SLC12A2 G>A	5	127493857	127493857	G	A	SLC12A2	c.2475+1G>A	NM_001046.3	NP_001037.1:p.?	NC_000005.9:g.127493857G>A	VUS	1 lab	6cb0ff8d9d
16:3141547 ZSCAN10 G>T	16	3141547	3141547	G	T	ZSCAN10	c.781C>A	NM_032805.3	NP_116194.2:p.(Pro261Thr)	NC_000016.9:g.3141547G>T	VUS	1 lab	6cb107da05
2:241468502 ANKMY1 T>C	2	241468502	241468502	T	C	ANKMY1	c.905A>G	NM_001282771.3	NP_001269700.1:p.(Asn302Ser)	NC_000002.11:g.241468502T>C	VUS	1 lab	6cb3521e29
3:25775359 NGLY1 A>G	3	25775359	25775359	A	G	NGLY1	c.1260+4T>C	NM_018297.4	NP_060767.2:p.?	NC_000003.11:g.25775359A>G	(Likely) benign	1 lab	6cb36a23d4
12:120213605 CIT T>G	12	120213605	120213605	T	G	CIT	c.1926A>C	NM_001206999.2	NP_001193928.1:p.(Gln642His)	NC_000012.11:g.120213605T>G	VUS	1 lab	6cb3928095
9:117050790 COL27A1 G>A	9	117050790	117050790	G	A	COL27A1	c.4043G>A	NM_032888.4	NP_116277.2:p.(Arg1348Gln)	NC_000009.11:g.117050790G>A	(Likely) benign	1 lab	6cb3b639e4
15:89395107 ACAN C>T	15	89395107	89395107	C	T	ACAN	c.2109C>T	NM_001369268.1	NP_001356197.1:p.(Thr703=)	NC_000015.9:g.89395107C>T	(Likely) benign	1 lab	6cb3fbc023
5:140778094 PCDHGB4 A>C	5	140778094	140778094	A	C	PCDHGB4	c.2397+8246A>C	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140778094A>C	VUS	1 lab	6cb5d65ddd
17:2203236 SMG6 C>G	17	2203236	2203236	C	G	SMG6	c.811G>C	NM_017575.5	NP_060045.4:p.(Ala271Pro)	NC_000017.10:g.2203236C>G	(Likely) benign	1 lab	6cb687cf90
3:142987760 SLC9A9 C>T	3	142987760	142987760	C	T	SLC9A9	c.1667G>A	NM_173653.4	NP_775924.1:p.(Cys556Tyr)	NC_000003.11:g.142987760C>T	VUS	1 lab	6cb772bc2d
6:31635663 CSNK2B C>T	6	31635663	31635663	C	T	CSNK2B	c.91C>T	NM_001320.7	NP_001311.3:p.(Gln31Ter)	NC_000006.11:g.31635663C>T	(Likely) pathogenic	1 lab	6cb8589411
1:235577919 TBCE TATG>T	1	235577919	235577923	TATG	T	TBCE	c.359_361del	NM_003193.5	NP_003184.1:p.(Met120del)	NC_000001.10:g.235577921_235577923del	VUS	1 lab	6cb894c846
1:155451969 ASH1L T>C	1	155451969	155451969	T	C	ASH1L	c.692A>G	NM_018489.3	NP_060959.2:p.(Lys231Arg)	NC_000001.10:g.155451969T>C	(Likely) benign	1 lab	6cbd69dddf
8:113668508 CSMD3 G>A	8	113668508	113668508	G	A	CSMD3	c.2879C>T	NM_198123.2	NP_937756.1:p.(Pro960Leu)	NC_000008.10:g.113668508G>A	VUS	1 lab	6cbda5a309
21:47542422 COL6A2 G>A	21	47542422	47542422	G	A	COL6A2	c.1585G>A	NM_001849.4	NP_001840.3:p.(Glu529Lys)	NC_000021.8:g.47542422G>A	VUS	1 lab	6cbddd832b
1:17301446 MFAP2 G>C	1	17301446	17301446	G	C	MFAP2	c.521C>G	NM_002403.4	NP_002394.1:p.(Ala174Gly)	NC_000001.10:g.17301446G>C	(Likely) benign	1 lab	6cc24d9ddb
17:60655936 TLK2 G>T	17	60655936	60655936	G	T	TLK2	c.1286+1G>T	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60655936G>T	VUS	1 lab	6cc27336cc
4:73161428 ADAMTS3 T>C	4	73161428	73161428	T	C	ADAMTS3	c.2666A>G	NM_014243.3	NP_055058.2:p.(Asn889Ser)	NC_000004.11:g.73161428T>C	(Likely) benign	1 lab	6cc2f211a9
10:50015901 WDFY4 T>C	10	50015901	50015901	T	C	WDFY4	c.4739-3T>C	NM_001394531.1	NP_001381460.1:p.?	NC_000010.10:g.50015901T>C	VUS	1 lab	6cc46d80ce
4:6293004 WFS1 C>T	4	6293004	6293004	C	T	WFS1	c.541C>T	NM_006005.3	NP_005996.2:p.(Leu181=)	NC_000004.11:g.6293004C>T	(Likely) benign	1 lab	6cc539106c
18:43547127 EPG5 TG>T	18	43547127	43547132	TG	T	EPG5	c.63+15del	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43547132del	(Likely) benign	1 lab	2267a51157
17:3659189 ITGAE T>C	17	3659189	3659189	T	C	ITGAE	c.1174A>G	NM_002208.5	NP_002199.3:p.(Thr392Ala)	NC_000017.10:g.3659189T>C	(Likely) benign	1 lab	6cc705240f
6:40359795 LRFN2 T>C	6	40359795	40359795	T	C	LRFN2	c.2257A>G	NM_020737.3	NP_065788.1:p.(Thr753Ala)	NC_000006.11:g.40359795T>C	VUS	1 lab	6cc8dbf00f
15:43348610 UBR1 T>C	15	43348610	43348610	T	C	UBR1	c.1213A>G	NM_174916.3	NP_777576.1:p.(Ser405Gly)	NC_000015.9:g.43348610T>C	VUS	1 lab	6cc9da705b
19:18899208 COMP C>T	19	18899208	18899208	C	T	COMP	c.867+11G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899208C>T	(Likely) benign	1 lab	6cca384cd3
12:121437110 HNF1A A>G	12	121437110	121437110	A	G	HNF1A	c.1541A>G	NM_000545.8	NP_000536.6:p.(His514Arg)	NC_000012.11:g.121437110A>G	VUS	1 lab	6cca945b8b
2:203165091 NOP58 G>C	2	203165091	203165091	G	C	NOP58	c.1402+1G>C	NM_015934.5	NP_057018.1:p.?	NC_000002.11:g.203165091G>C	VUS	1 lab	6ccb19c912
4:6296876 WFS1 T>G	4	6296876	6296876	T	G	WFS1	c.821T>G	NM_006005.3	NP_005996.2:p.(Leu274Arg)	NC_000004.11:g.6296876T>G	VUS	1 lab	6ccba93dd9
20:60898833 LAMA5 G>A	20	60898833	60898833	G	A	LAMA5	c.5848C>T	NM_005560.6	NP_005551.3:p.(Arg1950Trp)	NC_000020.10:g.60898833G>A	VUS	1 lab	6ccddc9181
17:34851132 ZNHIT3 G>C	17	34851132	34851132	G	C	ZNHIT3	c.352G>C	NM_004773.4	NP_004764.1:p.(Asp118His)	NC_000017.10:g.34851132G>C	VUS	1 lab	6cd04bb9cf
6:157521870 ARID1B G>T	6	157521870	157521870	G	T	ARID1B	c.4511G>T	NM_001374828.1	NP_001361757.1:p.(Gly1504Val)	NC_000006.11:g.157521870G>T	(Likely) benign	1 lab	6cd16c1727
17:1655948 SERPINF2 C>T	17	1655948	1655948	C	T	SERPINF2	c.927C>T	NM_000934.4	NP_000925.2:p.(Asn309=)	NC_000017.10:g.1655948C>T	(Likely) benign	1 lab	6cd25ee533
4:79204100 FRAS1 T>TGCTGTC	4	79204100	79204106	T	TGCTGTC	FRAS1	c.1235_1240dup	NM_025074.7	NP_079350.5:p.(Cys413_Pro414insArgCys)	NC_000004.11:g.79204101_79204106dup	VUS	1 lab	6cd3bb5b62
2:202566433 ALS2 G>T	2	202566433	202566433	G	T	ALS2	c.*141C>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202566433G>T	(Likely) benign	1 lab	23c48287a6
17:44952471 WNT9B CAA>C	17	44952471	44952474	CAA	C	WNT9B	c.341_342del	NM_003396.3	NP_003387.1:p.(Lys114ArgfsTer32)	NC_000017.10:g.44952473_44952474del	VUS	1 lab	6cd63fe707
12:18658245 PIK3C2G A>T	12	18658245	18658245	A	T	PIK3C2G	c.3173A>T	NM_001288772.2	NP_001275701.1:p.(Tyr1058Phe)	NC_000012.11:g.18658245A>T	VUS	1 lab	6cd6461920
1:153751927 SLC27A3 G>A	1	153751927	153751927	G	A	SLC27A3	c.1853G>A	NM_024330.4	NP_077306.3:p.(Arg618Gln)	NC_000001.10:g.153751927G>A	(Likely) benign	1 lab	6cd7051160
X:6452690 VCX3A T>C	X	6452690	6452690	T	C	VCX3A	c.-146-6A>G	NM_016379.4	NP_057463.2:p.?	NC_000023.10:g.6452690T>C	(Likely) benign	1 lab	6cd7bf766a
7:106508935 PIK3CG C>T	7	106508935	106508935	C	T	PIK3CG	c.929C>T	NM_001282426.2	NP_001269355.1:p.(Pro310Leu)	NC_000007.13:g.106508935C>T	VUS	1 lab	6cd7ca1ea0
12:52962049 KRT74 C>T	12	52962049	52962049	C	T	KRT74	c.1259G>A	NM_175053.4	NP_778223.2:p.(Arg420Gln)	NC_000012.11:g.52962049C>T	VUS	1 lab	6cd80b6be8
X:48386810 EBP G>A	X	48386810	48386810	G	A	EBP	c.658G>A	NM_006579.3	NP_006570.1:p.(Ala220Thr)	NC_000023.10:g.48386810G>A	(Likely) benign	1 lab	6cd96f882a
15:101606904 LRRK1 G>A	15	101606904	101606904	G	A	LRRK1	c.5828G>A	NM_024652.6	NP_078928.3:p.(Arg1943Gln)	NC_000015.9:g.101606904G>A	VUS	1 lab	6cdb0f5eb5
8:6669680 XKR5 G>T	8	6669680	6669680	G	T	XKR5	c.1100C>A	NM_207411.5	NP_997294.3:p.(Ala367Glu)	NC_000008.10:g.6669680G>T	VUS	1 lab	6cdc5a6c8e
21:19651341 TMPRSS15 G>C	21	19651341	19651341	G	C	TMPRSS15	c.2704C>G	NM_002772.3	NP_002763.3:p.(Gln902Glu)	NC_000021.8:g.19651341G>C	(Likely) benign	1 lab	6cdd433dcc
17:41262604 BRCA1 CA>C	17	41262604	41262621	CA	C	BRCA1	c.135-4055del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41262621del	(Likely) benign	1 lab	23c8774afe
13:25671332 PABPC3 CA>C	13	25671332	25671335	CA	C	PABPC3	c.999del	NM_030979.3	NP_112241.2:p.(Phe335LeufsTer19)	NC_000013.10:g.25671335del	VUS	1 lab	6cde869fc3
5:139494155 PURA C>T	5	139494155	139494155	C	T	PURA	c.389C>T	NM_005859.5	NP_005850.1:p.(Pro130Leu)	NC_000005.9:g.139494155C>T	(Likely) benign	1 lab	6cded2926a
19:38899415 FAM98C C>CG	19	38899415	38899422	C	CG	FAM98C	c.950dup	NM_174905.4	NP_777565.3:p.(Arg318ProfsTer4)	NC_000019.9:g.38899422dup	VUS	1 lab	6ce3f6c071
17:40630979 ATP6V0A1 A>G	17	40630979	40630979	A	G	ATP6V0A1	c.633+372A>G	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40630979A>G	(Likely) benign	1 lab	6ce427de1c
1:145763570 PDZK1 G>T	1	145763570	145763570	G	T	PDZK1	c.1507G>T	NM_001201325.2	NP_001188254.1:p.(Ala503Ser)	NC_000001.10:g.145763570G>T	(Likely) benign	1 lab	6ce4a9a15a
15:48758053 FBN1 C>T	15	48758053	48758053	C	T	FBN1	c.4750G>A	NM_000138.5	NP_000129.3:p.(Glu1584Lys)	NC_000015.9:g.48758053C>T	(Likely) benign	1 lab	6ce5084737
X:153072229 PDZD4 C>T	X	153072229	153072229	C	T	PDZD4	c.472G>A	NM_001303512.2	NP_001290441.1:p.(Asp158Asn)	NC_000023.10:g.153072229C>T	VUS	1 lab	6ce519a1af
18:20572799 RBBP8 A>G	18	20572799	20572799	A	G	RBBP8	c.1009A>G	NM_002894.3	NP_002885.1:p.(Lys337Glu)	NC_000018.9:g.20572799A>G	VUS	1 lab	6ce5b080e3
19:43026169 CEACAM1 T>G	19	43026169	43026169	T	G	CEACAM1	c.610A>C	NM_001712.5	NP_001703.2:p.(Ser204Arg)	NC_000019.9:g.43026169T>G	(Likely) benign	1 lab	6ce63ed1b9
22:19175605 CLTCL1 T>C	22	19175605	19175605	T	C	CLTCL1	c.4324-2A>G	NM_007098.4	NP_009029.3:p.?	NC_000022.10:g.19175605T>C	VUS	1 lab	6ce7694ef5
3:119133553 ARHGAP31 C>T	3	119133553	119133553	C	T	ARHGAP31	c.2777C>T	NM_020754.4	NP_065805.2:p.(Ala926Val)	NC_000003.11:g.119133553C>T	(Likely) benign	1 lab	6ce7859762
7:129962366 CPA4 C>A	7	129962366	129962366	C	A	CPA4	c.1116C>A	NM_016352.4	NP_057436.2:p.(Asp372Glu)	NC_000007.13:g.129962366C>A	VUS	1 lab	6ce7dc2cfc
21:38338738 HLCS G>C	21	38338738	38338738	G	C	HLCS	c.195+6C>G	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38338738G>C	VUS	1 lab	6ce810d09f
3:58121793 FLNB C>T	3	58121793	58121793	C	T	FLNB	c.4759C>T	NM_001457.4	NP_001448.2:p.(Arg1587Cys)	NC_000003.11:g.58121793C>T	VUS	1 lab	6cea9b7e94
1:2436316 PLCH2 GCTCA>G	1	2436316	2436322	GCTCA	G	PLCH2	c.3918_3921del	NM_014638.4	NP_055453.2:p.(Thr1307SerfsTer190)	NC_000001.10:g.2436319_2436322del	VUS	1 lab	6cecfcace8
18:73000130 TSHZ1 C>T	18	73000130	73000130	C	T	TSHZ1	c.2768C>T	NM_001308210.2	NP_001295139.1:p.(Pro923Leu)	NC_000018.9:g.73000130C>T	VUS	1 lab	6ced17fcf1
4:159620265 ETFDH A>G	4	159620265	159620265	A	G	ETFDH	c.1099A>G	NM_004453.4	NP_004444.2:p.(Asn367Asp)	NC_000004.11:g.159620265A>G	VUS	1 lab	6ced84aa7c
11:62290938 AHNAK C>G	11	62290938	62290938	C	G	AHNAK	c.10951G>C	NM_001620.3	NP_001611.1:p.(Asp3651His)	NC_000011.9:g.62290938C>G	VUS	1 lab	6ced90de94
11:116655571 ZPR1 G>A	11	116655571	116655571	G	A	ZPR1	c.820C>T	NM_003904.5	NP_003895.1:p.(Gln274Ter)	NC_000011.9:g.116655571G>A	VUS	1 lab	6cee9cf0a2
8:33347837 MAK16 C>T	8	33347837	33347837	C	T	MAK16	c.427C>T	NM_032509.4	NP_115898.2:p.(Arg143Cys)	NC_000008.10:g.33347837C>T	VUS	1 lab	6cef811501
16:90001168 TUBB3 G>T	16	90001168	90001168	G	T	TUBB3	c.93G>T	NM_001197181.2	NP_001184110.1:p.(Lys31Asn)	NC_000016.9:g.90001168G>T	VUS	1 lab	2275561dfa
11:68380536 PPP6R3 C>T	11	68380536	68380536	C	T	PPP6R3	c.2573C>T	NM_001164161.2	NP_001157633.1:p.(Thr858Ile)	NC_000011.9:g.68380536C>T	(Likely) benign	1 lab	6cf192efd6
8:10465234 RP1L1 G>T	8	10465234	10465234	G	T	RP1L1	c.6374C>A	NM_178857.6	NP_849188.4:p.(Ala2125Asp)	NC_000008.10:g.10465234G>T	(Likely) benign	1 lab	6cf1995ba5
17:42937881 EFTUD2 A>G	17	42937881	42937881	A	G	EFTUD2	c.1638T>C	NM_004247.4	NP_004238.3:p.(Ala546=)	NC_000017.10:g.42937881A>G	(Likely) benign	1 lab	6cf1a199d4
14:95669212 CLMN C>T	14	95669212	95669212	C	T	CLMN	c.2474G>A	NM_024734.4	NP_079010.2:p.(Arg825Lys)	NC_000014.8:g.95669212C>T	VUS	1 lab	6cf2bd34b4
X:34148921 FAM47A T>C	X	34148921	34148921	T	C	FAM47A	c.1475A>G	NM_203408.4	NP_981953.2:p.(His492Arg)	NC_000023.10:g.34148921T>C	VUS	1 lab	6cf3ba291d
15:91456220 MAN2A2 A>G	15	91456220	91456220	A	G	MAN2A2	c.2583A>G	NM_006122.4	NP_006113.2:p.(Pro861=)	NC_000015.9:g.91456220A>G	(Likely) benign	1 lab	6cf4ccf3dd
20:36361482 CTNNBL1 C>T	20	36361482	36361482	C	T	CTNNBL1	c.138+13C>T	NM_001281495.1	NP_001268424.1:p.?	NC_000020.10:g.36361482C>T	(Likely) benign	1 lab	23c973f4a8
6:138726318 HEBP2 A>C	6	138726318	138726318	A	C	HEBP2	c.139A>C	NM_014320.3	NP_055135.1:p.(Lys47Gln)	NC_000006.11:g.138726318A>C	VUS	1 lab	6cf7f17e39
3:157099066 VEPH1 C>T	3	157099066	157099066	C	T	VEPH1	c.1006G>A	NM_001167912.2	NP_001161384.1:p.(Asp336Asn)	NC_000003.11:g.157099066C>T	(Likely) benign	1 lab	6cf83c14b2
19:36212107 KMT2B C>G	19	36212107	36212107	C	G	KMT2B	c.1858C>G	NM_014727.3	NP_055542.1:p.(Pro620Ala)	NC_000019.9:g.36212107C>G	VUS	1 lab	6cfa2966e7
8:103231125 RRM2B A>G	8	103231125	103231125	A	G	RRM2B	c.601T>C	NM_015713.5	NP_056528.2:p.(Ser201Pro)	NC_000008.10:g.103231125A>G	VUS	1 lab	6cfda2e0bd
19:11105090 SMARCA4 C>T	19	11105090	11105090	C	T	SMARCA4	c.1420-414C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11105090C>T	(Likely) benign	1 lab	6cfe1ac9e8
5:118500264 DMXL1 A>G	5	118500264	118500264	A	G	DMXL1	c.4765A>G	NM_001290321.3	NP_001277250.1:p.(Met1589Val)	NC_000005.9:g.118500264A>G	(Likely) benign	1 lab	6cfeb4ccea
17:8417099 MYH10 C>T	17	8417099	8417099	C	T	MYH10	c.2613+5G>A	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8417099C>T	(Likely) benign	1 lab	6cffb9c0fd
3:49828276 CDHR4 G>A	3	49828276	49828276	G	A	CDHR4	c.2356C>T	NM_001007540.4	NP_001007541.2:p.(Arg786Cys)	NC_000003.11:g.49828276G>A	VUS	1 lab	6d0009fce1
12:2224416 CACNA1C G>A	12	2224416	2224416	G	A	CACNA1C	c.76G>A	NM_000719.7	NP_000710.5:p.(Ala26Thr)	NC_000012.11:g.2224416G>A	VUS	1 lab	6d00c39d36
9:35792458 NPR2 G>C	9	35792458	35792458	G	C	NPR2	c.53G>C	NM_003995.4	NP_003986.2:p.(Arg18Pro)	NC_000009.11:g.35792458G>C	VUS	1 lab	6d01bcc909
2:220077210 ABCB6 C>CACCTGTT	2	220077210	220077211	C	CACCTGTT	ABCB6	c.1866_1867insAACAGGT	NM_005689.4	NP_005680.1:p.(Gly623AsnfsTer57)	NC_000002.11:g.220077210_220077211insACCTGTT	VUS	1 lab	6d02d26618
21:35153783 ITSN1 G>A	21	35153783	35153783	G	A	ITSN1	c.1615G>A	NM_003024.3	NP_003015.2:p.(Gly539Arg)	NC_000021.8:g.35153783G>A	VUS	1 lab	6d031877c7
9:98242354 PTCH1 C>T	9	98242354	98242354	C	T	PTCH1	c.964G>A	NM_000264.5	NP_000255.2:p.(Val322Ile)	NC_000009.11:g.98242354C>T	VUS	1 lab	6d03cfda5b
21:45846961 TRPM2 A>G	21	45846961	45846961	A	G	TRPM2	c.3941A>G	NM_003307.4	NP_003298.2:p.(His1314Arg)	NC_000021.8:g.45846961A>G	(Likely) benign	1 lab	6d04199985
18:21131664 NPC1 A>T	18	21131664	21131664	A	T	NPC1	c.1581T>A	NM_000271.5	NP_000262.2:p.(Ser527Arg)	NC_000018.9:g.21131664A>T	(Likely) benign	1 lab	6d04417664
16:49669843 ZNF423 G>A	16	49669843	49669843	G	A	ZNF423	c.3244C>T	NM_001379286.1	NP_001366215.1:p.(Arg1082Cys)	NC_000016.9:g.49669843G>A	VUS	1 lab	6d04840949
10:81604526 NUTM2E G>A	10	81604526	81604526	G	A	NUTM2E	c.980G>A	NM_001355263.2	NP_001342192.1:p.(Arg327Lys)	NC_000010.10:g.81604526G>A	(Likely) benign	1 lab	6d04e0c361
3:52391959 DNAH1 G>C	3	52391959	52391959	G	C	DNAH1	c.4026G>C	NM_015512.5	NP_056327.4:p.(Gln1342His)	NC_000003.11:g.52391959G>C	(Likely) benign	1 lab	6d061672be
11:6550003 DNHD1 C>G	11	6550003	6550003	C	G	DNHD1	c.2089C>G	NM_144666.3	NP_653267.2:p.(Gln697Glu)	NC_000011.9:g.6550003C>G	(Likely) benign	1 lab	6d061b8bb6
19:966627 ARID3A G>A	19	966627	966627	G	A	ARID3A	c.1254G>A	NM_005224.3	NP_005215.1:p.(Ala418=)	NC_000019.9:g.966627G>A	VUS	1 lab	6d06a8189a
5:90001487 ADGRV1 G>A	5	90001487	90001487	G	A	ADGRV1	c.8566+91G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90001487G>A	(Likely) benign	1 lab	23ceafd14a
18:43669856 ATP5F1A T>C	18	43669856	43669856	T	C	ATP5F1A	c.416A>G	NM_004046.6	NP_004037.1:p.(Asp139Gly)	NC_000018.9:g.43669856T>C	VUS	1 lab	6d08a621a0
1:225391979 DNAH14 A>T	1	225391979	225391979	A	T	DNAH14	c.5977+4A>T	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225391979A>T	VUS	1 lab	6d096935d8
17:29508730 NF1 A>G	17	29508730	29508730	A	G	NF1	c.657A>G	NM_001042492.3	NP_001035957.1:p.(Ala219=)	NC_000017.10:g.29508730A>G	VUS	1 lab	6d0ad7d2db
11:124757381 ROBO4 C>T	11	124757381	124757381	C	T	ROBO4	c.2071G>A	NM_019055.6	NP_061928.4:p.(Ala691Thr)	NC_000011.9:g.124757381C>T	(Likely) benign	1 lab	6d0b1742ee
7:44185333 GCK C>CGGGGCGGGAGGAGGT	7	44185333	44185348	C	CGGGGCGGGAGGAGGT	GCK	c.1020-19_1020-5dup	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44185334_44185348dup	(Likely) benign	1 lab	6d0b2ec9a9
14:20216138 OR4Q3 A>T	14	20216138	20216138	A	T	OR4Q3	c.576A>T	NM_001405963.1	NP_001392892.1:p.(Gln192His)	NC_000014.8:g.20216138A>T	(Likely) benign	1 lab	6d0b40c5fb
1:245020970 HNRNPU G>A	1	245020970	245020970	G	A	HNRNPU	c.1544C>T	NM_031844.3	NP_114032.2:p.(Thr515Ile)	NC_000001.10:g.245020970G>A	VUS	1 lab	6d0b4279e1
7:151949048 KMT2C C>T	7	151949048	151949048	C	T	KMT2C	c.1597G>A	NM_170606.3	NP_733751.2:p.(Val533Met)	NC_000007.13:g.151949048C>T	(Likely) benign	1 lab	6d0ba27b6e
2:109384600 RANBP2 C>T	2	109384600	109384600	C	T	RANBP2	c.7605C>T	NM_006267.5	NP_006258.3:p.(Phe2535=)	NC_000002.11:g.109384600C>T	(Likely) benign	1 lab	6d0e655dd0
21:45540264 PWP2 C>T	21	45540264	45540264	C	T	PWP2	c.1224C>T	NM_005049.3	NP_005040.2:p.(Phe408=)	NC_000021.8:g.45540264C>T	(Likely) benign	1 lab	6d0ed840fb
16:86544215 FOXF1 G>T	16	86544215	86544215	G	T	FOXF1	c.40G>T	NM_001451.3	NP_001442.2:p.(Gly14Cys)	NC_000016.9:g.86544215G>T	(Likely) benign	1 lab	6d0fe6d3cb
7:150703567 NOS3 G>T	7	150703567	150703567	G	T	NOS3	c.1805G>T	NM_000603.5	NP_000594.2:p.(Arg602Leu)	NC_000007.13:g.150703567G>T	VUS	1 lab	6d10373257
19:37314244 ZNF790 C>G	19	37314244	37314244	C	G	ZNF790	c.172G>C	NM_206894.4	NP_996777.2:p.(Glu58Gln)	NC_000019.9:g.37314244C>G	VUS	1 lab	6d10b9713a
4:49034669 CWH43 CA>C	4	49034669	49034670	CA	C	CWH43	c.1596del	NM_025087.3	NP_079363.2:p.(Leu533Ter)	NC_000004.11:g.49034670del	(Likely) benign	1 lab	6d11e06598
X:54949971 TRO C>T	X	54949971	54949971	C	T	TRO	c.1006C>T	NM_001039705.3	NP_001034794.1:p.(Arg336Trp)	NC_000023.10:g.54949971C>T	(Likely) benign	1 lab	6d125e523f
12:124192139 TCTN2 A>G	12	124192139	124192139	A	G	TCTN2	c.1985-12A>G	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124192139A>G	(Likely) benign	1 lab	23cebb3880
6:32805967 TAP2 A>G	6	32805967	32805967	A	G	TAP2	c.44T>C	NM_001290043.2	NP_001276972.1:p.(Val15Ala)	NC_000006.11:g.32805967A>G	(Likely) benign	1 lab	6d1595e01f
2:71827931 DYSF G>A	2	71827931	71827931	G	A	DYSF	c.3856G>A	NM_001130987.2	NP_001124459.1:p.(Gly1286Arg)	NC_000002.11:g.71827931G>A	(Likely) pathogenic	1 lab	6d15ed3ea0
14:61113224 SIX1 G>A	14	61113224	61113224	G	A	SIX1	c.632C>T	NM_005982.4	NP_005973.1:p.(Pro211Leu)	NC_000014.8:g.61113224G>A	(Likely) benign	1 lab	6d161d74e1
5:153078837 GRIA1 A>T	5	153078837	153078837	A	T	GRIA1	c.1452+204A>T	NM_000827.4	NP_000818.2:p.?	NC_000005.9:g.153078837A>T	(Likely) benign	1 lab	6d16e1df89
10:12291576 CDC123 A>G	10	12291576	12291576	A	G	CDC123	c.847-4A>G	NM_006023.3	NP_006014.2:p.?	NC_000010.10:g.12291576A>G	(Likely) benign	1 lab	6d17532394
2:228163496 COL4A3 A>G	2	228163496	228163496	A	G	COL4A3	c.3850A>G	NM_000091.5	NP_000082.2:p.(Thr1284Ala)	NC_000002.11:g.228163496A>G	(Likely) benign	1 lab	6d176f5e9b
2:163130356 IFIH1 A>G	2	163130356	163130356	A	G	IFIH1	c.2403T>C	NM_022168.4	NP_071451.2:p.(Cys801=)	NC_000002.11:g.163130356A>G	(Likely) benign	1 lab	6d19ec4d36
22:17690324 ADA2 G>A	22	17690324	17690324	G	A	ADA2	c.244C>T	NM_001282225.2	NP_001269154.1:p.(Pro82Ser)	NC_000022.10:g.17690324G>A	VUS	1 lab	6d1ca684ee
11:2185633 TH G>C	11	2185633	2185633	G	C	TH	c.1335-11C>G	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2185633G>C	(Likely) benign	1 lab	6d4111490e
6:88273906 RARS2 T>A	6	88273906	88273906	T	A	RARS2	c.155A>T	NM_020320.5	NP_064716.2:p.(Lys52Ile)	NC_000006.11:g.88273906T>A	(Likely) benign	1 lab	6d1d48e476
3:71021322 FOXP1 G>A	3	71021322	71021322	G	A	FOXP1	c.1652+384C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71021322G>A	(Likely) benign	1 lab	6d1f8eef5f
3:53707750 CACNA1D C>T	3	53707750	53707750	C	T	CACNA1D	c.1220+597C>T	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53707750C>T	VUS	1 lab	6d228938c4
X:47088047 CDK16 G>A	X	47088047	47088047	G	A	CDK16	c.1453+4G>A	NM_006201.5	NP_006192.1:p.?	NC_000023.10:g.47088047G>A	(Likely) benign	1 lab	6d228b0356
3:58110118 FLNB G>A	3	58110118	58110118	G	A	FLNB	c.3784G>A	NM_001457.4	NP_001448.2:p.(Gly1262Arg)	NC_000003.11:g.58110118G>A	VUS	1 lab	6d24b49971
22:50894975 SBF1 G>T	22	50894975	50894975	G	T	SBF1	c.4032C>A	NM_002972.4	NP_002963.2:p.(Phe1344Leu)	NC_000022.10:g.50894975G>T	VUS	1 lab	6d252d53cf
X:19373890 PDHA1 C>T	X	19373890	19373890	C	T	PDHA1	c.945+15C>T	NM_001173454.2	NP_001166925.1:p.?	NC_000023.10:g.19373890C>T	(Likely) benign	1 lab	227874a186
19:757862 MISP G>C	19	757862	757862	G	C	MISP	c.916G>C	NM_173481.4	NP_775752.1:p.(Asp306His)	NC_000019.9:g.757862G>C	(Likely) benign	1 lab	6d26eb4d55
15:89862501 POLG G>A	15	89862501	89862501	G	A	POLG	c.3062C>T	NM_002693.3	NP_002684.1:p.(Ser1021Phe)	NC_000015.9:g.89862501G>A	VUS	1 lab	6d271df3d8
2:179522643 TTN G>A	2	179522643	179522643	G	A	TTN	c.37838C>T	NM_001267550.2	NP_001254479.2:p.(Ala12613Val)	NC_000002.11:g.179522643G>A	VUS	1 lab	6d2944dd46
5:149213218 PPARGC1B G>A	5	149213218	149213218	G	A	PPARGC1B	c.1582G>A	NM_133263.4	NP_573570.3:p.(Glu528Lys)	NC_000005.9:g.149213218G>A	VUS	1 lab	6d2cbb166e
X:107433669 COL4A6 C>T	X	107433669	107433669	C	T	COL4A6	c.1379G>A	NM_033641.4	NP_378667.1:p.(Arg460Gln)	NC_000023.10:g.107433669C>T	(Likely) benign	1 lab	6d2d58427d
12:106995127 RFX4 A>G	12	106995127	106995127	A	G	RFX4	c.44-7448A>G	NM_213594.3	NP_998759.1:p.?	NC_000012.11:g.106995127A>G	(Likely) benign	1 lab	6d2d857558
7:151917814 KMT2C G>A	7	151917814	151917814	G	A	KMT2C	c.3506C>T	NM_170606.3	NP_733751.2:p.(Pro1169Leu)	NC_000007.13:g.151917814G>A	(Likely) benign	1 lab	6d2f0c9339
21:34953631 DONSON C>T	21	34953631	34953631	C	T	DONSON	c.1327G>A	NM_017613.4	NP_060083.1:p.(Gly443Ser)	NC_000021.8:g.34953631C>T	VUS	1 lab	6d2fbd97b6
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer38)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	6d3085ed22
16:89352438 ANKRD11 G>A	16	89352438	89352438	G	A	ANKRD11	c.892+9C>T	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89352438G>A	(Likely) benign	1 lab	6d30ff2386
16:2153779 PKD1 A>G	16	2153779	2153779	A	G	PKD1	c.8279T>C	NM_001009944.3	NP_001009944.3:p.(Met2760Thr)	NC_000016.9:g.2153779A>G	VUS	1 lab	6d313ff251
X:101857558 ARMCX5 T>G	X	101857558	101857558	T	G	ARMCX5	c.489T>G	NM_001168478.2	NP_001161950.1:p.(Ser163Arg)	NC_000023.10:g.101857558T>G	VUS	1 lab	6d321ecd02
10:8106043 GATA3 G>C	10	8106043	8106043	G	C	GATA3	c.866G>C	NM_001002295.2	NP_001002295.1:p.(Gly289Ala)	NC_000010.10:g.8106043G>C	(Likely) pathogenic	1 lab	6d32d734e3
2:152346979 NEB T>C	2	152346979	152346979	T	C	NEB	c.25309A>G	NM_001271208.2	NP_001258137.2:p.(Ile8437Val)	NC_000002.11:g.152346979T>C	(Likely) benign	1 lab	22791b5f9a
16:72828683 ZFHX3 G>T	16	72828683	72828683	G	T	ZFHX3	c.7898C>A	NM_006885.4	NP_008816.3:p.(Thr2633Lys)	NC_000016.9:g.72828683G>T	VUS	1 lab	6d35d32a39
1:103544283 COL11A1 T>C	1	103544283	103544283	T	C	COL11A1	c.419A>G	NM_001854.4	NP_001845.3:p.(Glu140Gly)	NC_000001.10:g.103544283T>C	VUS	1 lab	6d3610b541
12:42983248 PRICKLE1 G>A	12	42983248	42983248	G	A	PRICKLE1	c.-49+19C>T	NM_153026.3	NP_694571.2:p.?	NC_000012.11:g.42983248G>A	(Likely) benign	1 lab	23d566efe7
8:38090651 DDHD2 T>G	8	38090651	38090651	T	G	DDHD2	c.139T>G	NM_015214.3	NP_056029.2:p.(Cys47Gly)	NC_000008.10:g.38090651T>G	VUS	1 lab	6d3791c44b
13:101910846 NALCN T>C	13	101910846	101910846	T	C	NALCN	c.1214A>G	NM_052867.4	NP_443099.1:p.(Tyr405Cys)	NC_000013.10:g.101910846T>C	VUS	1 lab	6d39ed2a7f
17:40336203 HCRT G>A	17	40336203	40336203	G	A	HCRT	c.365C>T	NM_001524.1	NP_001515.1:p.(Ser122Phe)	NC_000017.10:g.40336203G>A	(Likely) benign	1 lab	6d3f2bc7ae
6:166571990 TBXT T>C	6	166571990	166571990	T	C	TBXT	c.1124A>G	NM_001366285.2	NP_001353214.1:p.(Gln375Arg)	NC_000006.11:g.166571990T>C	VUS	1 lab	6d3f4a978c
12:57642988 STAC3 C>G	12	57642988	57642988	C	G	STAC3	c.170G>C	NM_145064.3	NP_659501.1:p.(Gly57Ala)	NC_000012.11:g.57642988C>G	VUS	1 lab	6d4131050f
1:27089749 ARID1A A>G	1	27089749	27089749	A	G	ARID1A	c.2705A>G	NM_006015.6	NP_006006.3:p.(His902Arg)	NC_000001.10:g.27089749A>G	VUS	1 lab	6d42166ebf
12:133220544 POLE C>T	12	133220544	133220544	C	T	POLE	c.4169G>A	NM_006231.4	NP_006222.2:p.(Arg1390His)	NC_000012.11:g.133220544C>T	VUS	1 lab	6d4236ec08
2:152514615 NEB A>T	2	152514615	152514615	A	T	NEB	c.6076-11T>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152514615A>T	(Likely) benign	1 lab	6d435cad61
17:1629500 WDR81 C>T	17	1629500	1629500	C	T	WDR81	c.1247C>T	NM_001163809.2	NP_001157281.1:p.(Thr416Met)	NC_000017.10:g.1629500C>T	VUS	1 lab	6d43741317
19:15271867 NOTCH3 G>A	19	15271867	15271867	G	A	NOTCH3	c.6572C>T	NM_000435.3	NP_000426.2:p.(Pro2191Leu)	NC_000019.9:g.15271867G>A	VUS	1 lab	6d438b5a94
X:11206891 ARHGAP6 G>A	X	11206891	11206891	G	A	ARHGAP6	c.1034C>T	NM_013427.3	NP_038286.2:p.(Thr345Met)	NC_000023.10:g.11206891G>A	VUS	1 lab	6d4621bcec
4:186321126 UFSP2 C>CT	4	186321126	186321131	C	CT	UFSP2	c.*419dup	NM_018359.5	NP_060829.2:p.?	NC_000004.11:g.186321131dup	(Likely) benign	1 lab	6d46b95e46
20:62195149 HELZ2 G>A	20	62195149	62195149	G	A	HELZ2	c.5026C>T	NM_001037335.2	NP_001032412.2:p.(Arg1676Cys)	NC_000020.10:g.62195149G>A	VUS	1 lab	6d46ff37e1
7:103126837 RELN C>T	7	103126837	103126837	C	T	RELN	c.9790G>A	NM_005045.4	NP_005036.2:p.(Asp3264Asn)	NC_000007.13:g.103126837C>T	VUS	1 lab	6d4772d491
13:32913281 BRCA2 T>G	13	32913281	32913281	T	G	BRCA2	c.4789T>G	NM_000059.4	NP_000050.3:p.(Ser1597Ala)	NC_000013.10:g.32913281T>G	(Likely) benign	1 lab	6d48d1c856
17:41246355 BRCA1 G>C	17	41246355	41246355	G	C	BRCA1	c.1193C>G	NM_007294.4	NP_009225.1:p.(Ser398Ter)	NC_000017.10:g.41246355G>C	(Likely) pathogenic	1 lab	227c2a4005
9:90503521 SPATA31E1 A>C	9	90503521	90503521	A	C	SPATA31E1	c.4119A>C	NM_178828.5	NP_849150.3:p.(Arg1373Ser)	NC_000009.11:g.90503521A>C	(Likely) benign	1 lab	6d4cb1cdf6
1:240371009 FMN2 T>C	1	240371009	240371009	T	C	FMN2	c.2897T>C	NM_020066.5	NP_064450.3:p.(Leu966Pro)	NC_000001.10:g.240371009T>C	(Likely) benign	1 lab	6d4ccf4119
9:140850187 CACNA1B C>T	9	140850187	140850187	C	T	CACNA1B	c.1108C>T	NM_000718.4	NP_000709.1:p.(Arg370Cys)	NC_000009.11:g.140850187C>T	VUS	1 lab	227d3118c6
15:72637817 HEXA C>T	15	72637817	72637817	C	T	HEXA	c.1496G>A	NM_000520.6	NP_000511.2:p.(Arg499His)	NC_000015.9:g.72637817C>T	(Likely) pathogenic	1 lab	3760b31460
8:120774829 TAF2 C>T	8	120774829	120774829	C	T	TAF2	c.2384G>A	NM_003184.4	NP_003175.2:p.(Arg795His)	NC_000008.10:g.120774829C>T	VUS	1 lab	6d51e7150f
15:51689763 GLDN G>A	15	51689763	51689763	G	A	GLDN	c.785G>A	NM_181789.4	NP_861454.2:p.(Arg262Gln)	NC_000015.9:g.51689763G>A	(Likely) benign	1 lab	6d52080706
16:30750639 SRCAP A>T	16	30750639	30750639	A	T	SRCAP	c.9278A>T	NM_006662.3	NP_006653.2:p.(Asp3093Val)	NC_000016.9:g.30750639A>T	VUS	1 lab	6d5255fa00
4:155506666 FGA T>C	4	155506666	155506666	T	C	FGA	c.1915A>G	NM_021871.4	NP_068657.1:p.(Lys639Glu)	NC_000004.11:g.155506666T>C	(Likely) benign	1 lab	6d52fb8bff
5:162896647 HMMR A>T	5	162896647	162896647	A	T	HMMR	c.274A>T	NM_001142556.2	NP_001136028.1:p.(Ile92Phe)	NC_000005.9:g.162896647A>T	VUS	1 lab	6d53da70be
15:90210926 PLIN1 G>A	15	90210926	90210926	G	A	PLIN1	c.870C>T	NM_002666.5	NP_002657.3:p.(Ala290=)	NC_000015.9:g.90210926G>A	(Likely) benign	1 lab	6d54730970
20:44640275 MMP9 G>A	20	44640275	44640275	G	A	MMP9	c.886G>A	NM_004994.3	NP_004985.2:p.(Gly296Ser)	NC_000020.10:g.44640275G>A	(Likely) benign	1 lab	6d57beb7b4
1:12429702 VPS13D C>T	1	12429702	12429702	C	T	VPS13D	c.10753C>T	NM_015378.4	NP_056193.2:p.(Arg3585Trp)	NC_000001.10:g.12429702C>T	VUS	1 lab	6d57d1bf9c
2:73677898 ALMS1 G>A	2	73677898	73677898	G	A	ALMS1	c.4244G>A	NM_001378454.1	NP_001365383.1:p.(Gly1415Asp)	NC_000002.11:g.73677898G>A	VUS	1 lab	6d57e9a55a
6:116288741 FRK G>GA	6	116288741	116288742	G	GA	FRK	c.771dup	NM_002031.3	NP_002022.1:p.(Pro258SerfsTer16)	NC_000006.11:g.116288742dup	VUS	1 lab	6d5b2b64be
6:166574346 TBXT G>A	6	166574346	166574346	G	A	TBXT	c.1016C>T	NM_001366285.2	NP_001353214.1:p.(Ala339Val)	NC_000006.11:g.166574346G>A	(Likely) benign	1 lab	6d5c1e33d5
3:9743494 MTMR14 G>A	3	9743494	9743494	G	A	MTMR14	c.1790G>A	NM_001077525.3	NP_001070993.1:p.(Arg597Gln)	NC_000003.11:g.9743494G>A	VUS	1 lab	6d5c4e19b8
19:55670800 DNAAF3 C>T	19	55670800	55670800	C	T	DNAAF3	c.1256G>A	NM_001256715.2	NP_001243644.1:p.(Arg419Gln)	NC_000019.9:g.55670800C>T	VUS	1 lab	6d5ccd958d
22:45898939 FBLN1 C>T	22	45898939	45898939	C	T	FBLN1	c.74C>T	NM_006486.3	NP_006477.3:p.(Ala25Val)	NC_000022.10:g.45898939C>T	(Likely) benign	1 lab	6d5d4b335a
15:90209054 PLIN1 C>T	15	90209054	90209054	C	T	PLIN1	c.1329G>A	NM_002666.5	NP_002657.3:p.(Pro443=)	NC_000015.9:g.90209054C>T	(Likely) benign	1 lab	6d5d877b84
11:17426065 ABCC8 G>A	11	17426065	17426065	G	A	ABCC8	c.3551C>T	NM_000352.6	NP_000343.2:p.(Ala1184Val)	NC_000011.9:g.17426065G>A	(Likely) pathogenic	1 lab	6d5d957caf
14:105416414 AHNAK2 C>G	14	105416414	105416414	C	G	AHNAK2	c.5374G>C	NM_138420.4	NP_612429.2:p.(Asp1792His)	NC_000014.8:g.105416414C>G	VUS	1 lab	6d5e6ef3a3
7:111585763 DOCK4 T>C	7	111585763	111585763	T	C	DOCK4	c.783+9A>G	NM_001363540.2	NP_001350469.1:p.?	NC_000007.13:g.111585763T>C	(Likely) benign	1 lab	6d5f57bd84
18:45566322 ZBTB7C T>A	18	45566322	45566322	T	A	ZBTB7C	c.1157A>T	NM_001318841.2	NP_001305770.1:p.(His386Leu)	NC_000018.9:g.45566322T>A	VUS	1 lab	6d5fbd76ee
7:40132730 CDK13 G>T	7	40132730	40132730	G	T	CDK13	c.3582G>T	NM_003718.5	NP_003709.3:p.(Gln1194His)	NC_000007.13:g.40132730G>T	VUS	1 lab	6d603e7779
10:11368251 CELF2 C>CAGT	10	11368251	11368253	C	CAGT	CELF2	c.1438+310_1438+311insGTA	NM_001326342.2	NP_001313271.1:p.?	NC_000010.10:g.11368252_11368253insGTA	(Likely) benign	1 lab	6d60d4d517
14:76548664 IFT43 G>A	14	76548664	76548664	G	A	IFT43	c.322G>A	NM_001102564.3	NP_001096034.1:p.(Glu108Lys)	NC_000014.8:g.76548664G>A	VUS	1 lab	6d610c118c
17:7797756 CHD3 G>A	17	7797756	7797756	G	A	CHD3	c.1099G>A	NM_001005273.3	NP_001005273.1:p.(Gly367Arg)	NC_000017.10:g.7797756G>A	VUS	1 lab	6d65cb1b39
5:112175897 APC G>A	5	112175897	112175897	G	A	APC	c.4606G>A	NM_000038.6	NP_000029.2:p.(Glu1536Lys)	NC_000005.9:g.112175897G>A	(Likely) benign	1 lab	6d6704f7dd
11:46329498 CREB3L1 A>C	11	46329498	46329498	A	C	CREB3L1	c.463A>C	NM_052854.4	NP_443086.1:p.(Thr155Pro)	NC_000011.9:g.46329498A>C	(Likely) benign	1 lab	6d682b4ae6
2:170072808 LRP2 G>C	2	170072808	170072808	G	C	LRP2	c.5781C>G	NM_004525.3	NP_004516.2:p.(Asp1927Glu)	NC_000002.11:g.170072808G>C	VUS	1 lab	6d6b753d27
X:15477845 PIR C>T	X	15477845	15477845	C	T	PIR	c.208G>A	NM_001018109.3	NP_001018119.1:p.(Gly70Arg)	NC_000023.10:g.15477845C>T	VUS	1 lab	6d6bc92b2a
21:45797618 TRPM2 G>A	21	45797618	45797618	G	A	TRPM2	c.976G>A	NM_003307.4	NP_003298.2:p.(Val326Met)	NC_000021.8:g.45797618G>A	VUS	1 lab	6d6c407be4
3:42739846 HHATL G>A	3	42739846	42739846	G	A	HHATL	c.484-3C>T	NM_020707.4	NP_065758.3:p.?	NC_000003.11:g.42739846G>A	(Likely) benign	1 lab	6d6d5bd9d8
16:2338201 ABCA3 TGGCCAGGAG>T	16	2338201	2338217	TGGCCAGGAG	T	ABCA3	c.2821_2829del	NM_001089.3	NP_001080.2:p.(Leu941_Ala943del)	NC_000016.9:g.2338209_2338217del	VUS	1 lab	6d6e700356
2:233390936 CHRND C>T	2	233390936	233390936	C	T	CHRND	c.11C>T	NM_000751.3	NP_000742.1:p.(Pro4Leu)	NC_000002.11:g.233390936C>T	VUS	1 lab	6d6eee91be
12:124171389 TCTN2 T>G	12	124171389	124171389	T	G	TCTN2	c.571T>G	NM_024809.5	NP_079085.2:p.(Ser191Ala)	NC_000012.11:g.124171389T>G	VUS	1 lab	6d6f4c890a
11:64375182 NRXN2 C>T	11	64375182	64375182	C	T	NRXN2	c.4625G>A	NM_015080.4	NP_055895.1:p.(Gly1542Glu)	NC_000011.9:g.64375182C>T	(Likely) benign	1 lab	6d7280d612
15:34111999 RYR3 G>A	15	34111999	34111999	G	A	RYR3	c.10749G>A	NM_001036.6	NP_001027.3:p.(Met3583Ile)	NC_000015.9:g.34111999G>A	VUS	1 lab	6d72d2112f
13:32914851 BRCA2 C>G	13	32914851	32914851	C	G	BRCA2	c.6359C>G	NM_000059.4	NP_000050.3:p.(Ser2120Ter)	NC_000013.10:g.32914851C>G	(Likely) pathogenic	1 lab	6d75e0cb1e
X:54566662 GNL3L TAAA>T	X	54566662	54566665	TAAA	T	GNL3L	c.177_179del	NM_001184819.2	NP_001171748.1:p.(Lys62del)	NC_000023.10:g.54566663_54566665del	VUS	1 lab	6d7671c726
11:2906070 CDKN1C TCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGG>T	11	2906070	2906186	TCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGG	T	CDKN1C	c.515_616del	NM_001122630.2	NP_001116102.1:p.(Ala172_Pro205del)	NC_000011.9:g.2906085_2906186del	(Likely) benign	1 lab	6d77354ac5
7:75583383 POR C>T	7	75583383	75583383	C	T	POR	c.73C>T	NM_000941.3	NP_000932.3:p.(Leu25Phe)	NC_000007.13:g.75583383C>T	(Likely) benign	1 lab	6d78263b96
17:17700944 RAI1 G>A	17	17700944	17700944	G	A	RAI1	c.4682G>A	NM_030665.4	NP_109590.3:p.(Arg1561Gln)	NC_000017.10:g.17700944G>A	(Likely) benign	1 lab	6d7a53b878
14:33201741 AKAP6 G>A	14	33201741	33201741	G	A	AKAP6	c.3082G>A	NM_004274.5	NP_004265.3:p.(Val1028Ile)	NC_000014.8:g.33201741G>A	(Likely) benign	1 lab	6d7a80e3d2
15:44858055 SPG11 G>T	15	44858055	44858055	G	T	SPG11	c.6996C>A	NM_025137.4	NP_079413.3:p.(Tyr2332Ter)	NC_000015.9:g.44858055G>T	(Likely) pathogenic	1 lab	23d9cc1674
1:205138963 DSTYK G>A	1	205138963	205138963	G	A	DSTYK	c.655-3C>T	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205138963G>A	(Likely) benign	1 lab	6d7bc8ce7b
1:161199701 NR1I3 C>G	1	161199701	161199701	C	G	NR1I3	c.933G>C	NM_005122.5	NP_005113.1:p.(Lys311Asn)	NC_000001.10:g.161199701C>G	VUS	1 lab	6d7c0f0390
12:56492587 ERBB3 G>A	12	56492587	56492587	G	A	ERBB3	c.2737G>A	NM_001982.4	NP_001973.2:p.(Ala913Thr)	NC_000012.11:g.56492587G>A	VUS	1 lab	6d7cf670b3
10:73767033 CHST3 G>A	10	73767033	73767033	G	A	CHST3	c.244G>A	NM_004273.5	NP_004264.2:p.(Glu82Lys)	NC_000010.10:g.73767033G>A	VUS	1 lab	6d7fe93444
9:139414010 NOTCH1 G>T	9	139414010	139414010	G	T	NOTCH1	c.750C>A	NM_017617.5	NP_060087.3:p.(Thr250=)	NC_000009.11:g.139414010G>T	(Likely) benign	1 lab	23db73f30d
14:102461040 DYNC1H1 A>G	14	102461040	102461040	A	G	DYNC1H1	c.3187A>G	NM_001376.5	NP_001367.2:p.(Met1063Val)	NC_000014.8:g.102461040A>G	VUS	1 lab	6d81932ce7
1:62676284 L1TD1 C>T	1	62676284	62676284	C	T	L1TD1	c.1838C>T	NM_019079.5	NP_061952.3:p.(Thr613Ile)	NC_000001.10:g.62676284C>T	(Likely) benign	1 lab	6d841a3d8e
11:66625678 PC A>G	11	66625678	66625678	A	G	PC	c.1369-4824T>C	NM_001040716.2	NP_001035806.1:p.?	NC_000011.9:g.66625678A>G	VUS	1 lab	6d845ea4a7
7:97482535 ASNS G>A	7	97482535	97482535	G	A	ASNS	c.1321-8C>T	NM_001673.5	NP_001664.3:p.?	NC_000007.13:g.97482535G>A	(Likely) benign	1 lab	6d848c3b2c
7:138417596 ATP6V0A4 TAA>T	7	138417596	138417609	TAA	T	ATP6V0A4	c.1908+24_1908+25del	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138417608_138417609del	(Likely) benign	1 lab	23dc59e452
9:140772393 CACNA1B G>A	9	140772393	140772393	G	A	CACNA1B	c.8G>A	NM_000718.4	NP_000709.1:p.(Arg3His)	NC_000009.11:g.140772393G>A	VUS	1 lab	6d85b4c4ba
5:180030308 FLT4 C>G	5	180030308	180030308	C	G	FLT4	c.3976G>C	NM_182925.5	NP_891555.2:p.(Ala1326Pro)	NC_000005.9:g.180030308C>G	(Likely) benign	1 lab	6d8666d807
6:33154451 COL11A2 G>T	6	33154451	33154451	G	T	COL11A2	c.751C>A	NM_080680.3	NP_542411.2:p.(Gln251Lys)	NC_000006.11:g.33154451G>T	(Likely) benign	1 lab	6d8712e6fe
5:168112927 SLIT3 G>C	5	168112927	168112927	G	C	SLIT3	c.3320C>G	NM_003062.4	NP_003053.2:p.(Pro1107Arg)	NC_000005.9:g.168112927G>C	(Likely) benign	1 lab	6d87b4b081
1:7792602 CAMTA1 C>CGGAGGCGGCAGCAGT	1	7792602	7792629	C	CGGAGGCGGCAGCAGT	CAMTA1	c.3022_3036dup	NM_015215.4	NP_056030.1:p.(Ser1008_Ser1012dup)	NC_000001.10:g.7792615_7792629dup	(Likely) benign	1 lab	6d8991a606
17:44408795 LRRC37A G>A	17	44408795	44408795	G	A	LRRC37A	c.4152G>A	NM_014834.4	NP_055649.4:p.(Glu1384=)	NC_000017.10:g.44408795G>A	VUS	1 lab	6d8b93ab94
4:3495209 DOK7 A>G	4	3495209	3495209	A	G	DOK7	c.1496A>G	NM_173660.5	NP_775931.3:p.(Lys499Arg)	NC_000004.11:g.3495209A>G	(Likely) benign	1 lab	6d8b9a0d38
17:38251324 NR1D1 T>C	17	38251324	38251324	T	C	NR1D1	c.1298A>G	NM_021724.5	NP_068370.1:p.(Gln433Arg)	NC_000017.10:g.38251324T>C	VUS	1 lab	6d8c8a59db
9:93983201 AUH G>A	9	93983201	93983201	G	A	AUH	c.729C>T	NM_001698.3	NP_001689.1:p.(Leu243=)	NC_000009.11:g.93983201G>A	VUS	1 lab	6dc838378b
6:7231184 RREB1 C>A	6	7231184	7231184	C	A	RREB1	c.2852C>A	NM_001003699.4	NP_001003699.1:p.(Ala951Asp)	NC_000006.11:g.7231184C>A	(Likely) benign	1 lab	6d8cdc5e78
15:42175665 SPTBN5 G>A	15	42175665	42175665	G	A	SPTBN5	c.1540C>T	NM_016642.4	NP_057726.4:p.(Arg514Cys)	NC_000015.9:g.42175665G>A	VUS	1 lab	6d8db84391
1:6512151 ESPN C>T	1	6512151	6512151	C	T	ESPN	c.2320C>T	NM_031475.3	NP_113663.2:p.(Arg774Trp)	NC_000001.10:g.6512151C>T	(Likely) benign	1 lab	6d91ead193
4:5798762 EVC G>T	4	5798762	5798762	G	T	EVC	c.1900G>T	NM_153717.3	NP_714928.1:p.(Val634Phe)	NC_000004.11:g.5798762G>T	VUS	1 lab	6e16c5a88f
18:21057228 RIOK3 C>T	18	21057228	21057228	C	T	RIOK3	c.1340C>T	NM_003831.5	NP_003822.2:p.(Ser447Leu)	NC_000018.9:g.21057228C>T	(Likely) benign	1 lab	6d93d287c2
22:51135975 SHANK3 CGAAT>C	22	51135975	51135979	CGAAT	C	SHANK3	c.1567-9_1567-6del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135976_51135979del	(Likely) benign	1 lab	6d94cf38a1
17:72741459 RAB37 G>A	17	72741459	72741459	G	A	RAB37	c.581G>A	NM_001006638.3	NP_001006639.1:p.(Arg194Gln)	NC_000017.10:g.72741459G>A	VUS	1 lab	6d94f90d9d
20:50287802 ATP9A C>T	20	50287802	50287802	C	T	ATP9A	c.1038-6G>A	NM_006045.3	NP_006036.1:p.?	NC_000020.10:g.50287802C>T	(Likely) benign	1 lab	6d96d6491c
4:184603950 TRAPPC11 A>G	4	184603950	184603950	A	G	TRAPPC11	c.1179A>G	NM_021942.6	NP_068761.4:p.(Gly393=)	NC_000004.11:g.184603950A>G	VUS	1 lab	6d96e06bc6
3:77671586 ROBO2 A>G	3	77671586	77671586	A	G	ROBO2	c.3772+3A>G	NM_001395656.1	NP_001382585.1:p.?	NC_000003.11:g.77671586A>G	(Likely) benign	1 lab	6d97b41eaa
5:112177961 APC A>G	5	112177961	112177961	A	G	APC	c.6670A>G	NM_000038.6	NP_000029.2:p.(Ile2224Val)	NC_000005.9:g.112177961A>G	(Likely) benign	1 lab	6d9853cd85
9:135944586 CEL C>T	9	135944586	135944586	C	T	CEL	c.1226C>T	NM_001807.6	NP_001798.3:p.(Thr409Ile)	NC_000009.11:g.135944586C>T	(Likely) benign	1 lab	6d986ef21c
X:6451898 VCX3A ACCTGGC>A	X	6451898	6451904	ACCTGGC	A	VCX3A	c.443_448del	NM_016379.4	NP_057463.2:p.(Ser148_Val150delinsMet)	NC_000023.10:g.6451899_6451904del	VUS	1 lab	6d98f22485
X:2933100 ARSH C>A	X	2933100	2933100	C	A	ARSH	c.430C>A	NM_001011719.2	NP_001011719.1:p.(Pro144Thr)	NC_000023.10:g.2933100C>A	(Likely) benign	1 lab	6d99a89b6d
2:113522157 CKAP2L T>C	2	113522157	113522157	T	C	CKAP2L	c.19A>G	NM_152515.5	NP_689728.3:p.(Thr7Ala)	NC_000002.11:g.113522157T>C	(Likely) benign	1 lab	6d9cb0d423
2:179445295 TTN G>A	2	179445295	179445295	G	A	TTN	c.66811C>T	NM_001267550.2	NP_001254479.2:p.(Leu22271Phe)	NC_000002.11:g.179445295G>A	VUS	1 lab	6da29fca15
6:29640912 ZFP57 C>T	6	29640912	29640912	C	T	ZFP57	c.976G>A	NM_001109809.5	NP_001103279.2:p.(Val326Met)	NC_000006.11:g.29640912C>T	VUS	1 lab	6da2b20129
2:170026206 LRP2 A>T	2	170026206	170026206	A	T	LRP2	c.11497+6T>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170026206A>T	VUS	1 lab	6da2cf272c
8:70498708 SULF1 G>A	8	70498708	70498708	G	A	SULF1	c.529G>A	NM_001128205.2	NP_001121677.1:p.(Gly177Ser)	NC_000008.10:g.70498708G>A	VUS	1 lab	6da573c2e9
2:73678253 ALMS1 C>A	2	73678253	73678253	C	A	ALMS1	c.4599C>A	NM_001378454.1	NP_001365383.1:p.(Phe1533Leu)	NC_000002.11:g.73678253C>A	VUS	1 lab	6da5a72359
17:62048590 SCN4A A>G	17	62048590	62048590	A	G	SCN4A	c.635T>C	NM_000334.4	NP_000325.4:p.(Leu212Ser)	NC_000017.10:g.62048590A>G	VUS	1 lab	6daa2927bb
4:184605123 TRAPPC11 C>T	4	184605123	184605123	C	T	TRAPPC11	c.1208-5C>T	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184605123C>T	VUS	1 lab	6dab8f95dd
6:29430344 OR2H1 A>T	6	29430344	29430344	A	T	OR2H1	c.798A>T	NM_030883.5	NP_112145.1:p.(Gln266His)	NC_000006.11:g.29430344A>T	(Likely) benign	1 lab	6dac887110
X:53276313 IQSEC2 G>A	X	53276313	53276313	G	A	IQSEC2	c.2587C>T	NM_001111125.3	NP_001104595.1:p.(Arg863Trp)	NC_000023.10:g.53276313G>A	(Likely) pathogenic	1 lab	6dadcf1ba5
4:114213659 ANK2 G>A	4	114213659	114213659	G	A	ANK2	c.2365G>A	NM_001148.6	NP_001139.3:p.(Ala789Thr)	NC_000004.11:g.114213659G>A	(Likely) benign	1 lab	6dadefc7ee
17:42978374 DNAAF19 G>A	17	42978374	42978374	G	A	DNAAF19	c.8G>A	NM_213607.3	NP_998772.1:p.(Arg3Lys)	NC_000017.10:g.42978374G>A	VUS	1 lab	6db138bb34
3:122003488 CASR G>A	3	122003488	122003488	G	A	CASR	c.2687G>A	NM_000388.4	NP_000379.3:p.(Arg896His)	NC_000003.11:g.122003488G>A	VUS	1 lab	6db4c5aba7
6:111665248 REV3L T>TA	6	111665248	111665257	T	TA	REV3L	c.7420-3dup	NM_001372078.1	NP_001359007.1:p.?	NC_000006.11:g.111665257dup	(Likely) benign	1 lab	6db63b028c
8:11606543 GATA4 C>T	8	11606543	11606543	C	T	GATA4	c.735C>T	NM_001308093.3	NP_001295022.1:p.(Tyr245=)	NC_000008.10:g.11606543C>T	(Likely) benign	1 lab	6db8317d74
8:145541613 DGAT1 G>C	8	145541613	145541613	G	C	DGAT1	c.819C>G	NM_012079.6	NP_036211.2:p.(Ile273Met)	NC_000008.10:g.145541613G>C	VUS	1 lab	6db8887e6e
4:175443506 HPGD T>TTAC	4	175443506	175443509	T	TTAC	HPGD	c.93+1_93+3dup	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175443507_175443509dup	(Likely) benign	1 lab	6db932a0ca
X:100177829 XKRX T>C	X	100177829	100177829	T	C	XKRX	c.557A>G	NM_212559.3	NP_997724.2:p.(Tyr186Cys)	NC_000023.10:g.100177829T>C	(Likely) benign	1 lab	6dba204531
17:78188411 SGSH T>C	17	78188411	78188411	T	C	SGSH	c.506+3A>G	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78188411T>C	VUS	1 lab	6dbb31a955
4:3478142 DOK7 T>C	4	3478142	3478142	T	C	DOK7	c.405T>C	NM_173660.5	NP_775931.3:p.(Asn135=)	NC_000004.11:g.3478142T>C	(Likely) benign	1 lab	6dbb360b30
6:70983760 COL9A1 C>T	6	70983760	70983760	C	T	COL9A1	c.1055G>A	NM_001851.6	NP_001842.3:p.(Arg352His)	NC_000006.11:g.70983760C>T	VUS	1 lab	6dbccaf06d
19:56029203 SSC5D C>CCTT	19	56029203	56029205	C	CCTT	SSC5D	c.3561_3562insTTC	NM_001144950.2	NP_001138422.1:p.(Pro1187_Thr1188insPhe)	NC_000019.9:g.56029204_56029205insTTC	VUS	1 lab	6dbcdb8226
16:50744924 NOD2 C>T	16	50744924	50744924	C	T	NOD2	c.1102C>T	NM_022162.1	NP_071445.1:p.(Leu368Phe)	NC_000016.9:g.50744924C>T	VUS	1 lab	37649e3d4e
10:124268209 HTRA1 C>T	10	124268209	124268209	C	T	HTRA1	c.1043C>T	NM_002775.5	NP_002766.1:p.(Thr348Ile)	NC_000010.10:g.124268209C>T	VUS	1 lab	6dbdaeebe2
15:89401462 ACAN C>T	15	89401462	89401462	C	T	ACAN	c.5646C>T	NM_001369268.1	NP_001356197.1:p.(Val1882=)	NC_000015.9:g.89401462C>T	(Likely) benign	1 lab	6dbdf82f1c
2:84848456 DNAH6 G>T	2	84848456	84848456	G	T	DNAH6	c.3934G>T	NM_001370.2	NP_001361.1:p.(Val1312Leu)	NC_000002.11:g.84848456G>T	(Likely) benign	1 lab	6dbe3656d9
4:119754766 SEC24D T>C	4	119754766	119754766	T	C	SEC24D	c.86A>G	NM_014822.4	NP_055637.2:p.(Tyr29Cys)	NC_000004.11:g.119754766T>C	(Likely) benign	1 lab	6dbe5b594f
12:15037822 MGP C>T	12	15037822	15037822	C	T	MGP	c.62-643G>A	NM_000900.5	NP_000891.2:p.?	NC_000012.11:g.15037822C>T	VUS	1 lab	6dbe7388be
1:32256080 SPOCD1 A>G	1	32256080	32256080	A	G	SPOCD1	c.*124T>C	NM_144569.7	NP_653170.3:p.?	NC_000001.10:g.32256080A>G	(Likely) benign	1 lab	6dbf259c85
3:119305323 ADPRH C>G	3	119305323	119305323	C	G	ADPRH	c.490C>G	NM_001125.4	NP_001116.1:p.(His164Asp)	NC_000003.11:g.119305323C>G	VUS	1 lab	6dbfca57fb
7:6094254 EIF2AK1 A>T	7	6094254	6094254	A	T	EIF2AK1	c.200T>A	NM_014413.4	NP_055228.2:p.(Leu67His)	NC_000007.13:g.6094254A>T	VUS	1 lab	6dc00397ee
14:45658366 FANCM C>T	14	45658366	45658366	C	T	FANCM	c.5141C>T	NM_020937.4	NP_065988.1:p.(Ala1714Val)	NC_000014.8:g.45658366C>T	VUS	1 lab	6dc1d46626
16:81934366 PLCG2 G>A	16	81934366	81934366	G	A	PLCG2	c.1343G>A	NM_002661.5	NP_002652.2:p.(Arg448Gln)	NC_000016.9:g.81934366G>A	VUS	1 lab	6dc2e89cd7
18:19751440 GATA6 T>G	18	19751440	19751440	T	G	GATA6	c.335T>G	NM_005257.6	NP_005248.2:p.(Leu112Trp)	NC_000018.9:g.19751440T>G	(Likely) benign	1 lab	6dc349d0fd
22:41562653 EP300 A>G	22	41562653	41562653	A	G	EP300	c.3857A>G	NM_001429.4	NP_001420.2:p.(Asn1286Ser)	NC_000022.10:g.41562653A>G	(Likely) pathogenic	1 lab	6dc3ed76e2
16:2213937 TRAF7 A>G	16	2213937	2213937	A	G	TRAF7	c.16A>G	NM_032271.3	NP_115647.2:p.(Ser6Gly)	NC_000016.9:g.2213937A>G	(Likely) benign	1 lab	6dc6a5299d
5:176562786 NSD1 C>G	5	176562786	176562786	C	G	NSD1	c.682C>G	NM_022455.5	NP_071900.2:p.(Pro228Ala)	NC_000005.9:g.176562786C>G	(Likely) benign	1 lab	6dc7d8c83c
16:30381026 TBC1D10B G>A	16	30381026	30381026	G	A	TBC1D10B	c.479C>T	NM_015527.4	NP_056342.3:p.(Thr160Met)	NC_000016.9:g.30381026G>A	(Likely) benign	1 lab	6dc7fc0e0e
22:39713638 RPL3 CA>C	22	39713638	39713647	CA	C	RPL3	c.197-5del	NM_000967.4	NP_000958.1:p.?	NC_000022.10:g.39713647del	(Likely) benign	1 lab	6dc8539952
1:1374728 VWA1 G>A	1	1374728	1374728	G	A	VWA1	c.899G>A	NM_022834.5	NP_073745.2:p.(Arg300His)	NC_000001.10:g.1374728G>A	VUS	1 lab	6dc859ba45
6:129619003 LAMA2 C>A	6	129619003	129619003	C	A	LAMA2	c.3030C>A	NM_000426.4	NP_000417.3:p.(Gly1010=)	NC_000006.11:g.129619003C>A	(Likely) benign	1 lab	6dc8799e97
8:22864407 RHOBTB2 T>C	8	22864407	22864407	T	C	RHOBTB2	c.649T>C	NM_015178.3	NP_055993.2:p.(Trp217Arg)	NC_000008.10:g.22864407T>C	VUS	1 lab	6dce87dc4e
7:122821111 SLC13A1 C>T	7	122821111	122821111	C	T	SLC13A1	c.144G>A	NM_022444.4	NP_071889.2:p.(Trp48Ter)	NC_000007.13:g.122821111C>T	(Likely) benign	1 lab	6dcf52c129
4:79462157 FRAS1 T>C	4	79462157	79462157	T	C	FRAS1	c.11918T>C	NM_025074.7	NP_079350.5:p.(Val3973Ala)	NC_000004.11:g.79462157T>C	VUS	1 lab	6dd0d546bb
14:21862333 CHD8 A>G	14	21862333	21862333	A	G	CHD8	c.5621T>C	NM_001170629.2	NP_001164100.1:p.(Phe1874Ser)	NC_000014.8:g.21862333A>G	VUS	1 lab	6dd19d3105
12:49373388 WNT1 G>C	12	49373388	49373388	G	C	WNT1	c.242G>C	NM_005430.4	NP_005421.1:p.(Ser81Thr)	NC_000012.11:g.49373388G>C	(Likely) benign	1 lab	6dd3076216
3:47103704 SETD2 A>G	3	47103704	47103704	A	G	SETD2	c.6242T>C	NM_014159.7	NP_054878.5:p.(Leu2081Pro)	NC_000003.11:g.47103704A>G	VUS	1 lab	6dd4a08ed2
5:127419931 SLC12A2 T>TGCGGCGGCG	5	127419931	127419954	T	TGCGGCGGCG	SLC12A2	c.300_308dup	NM_001046.3	NP_001037.1:p.(Ala105_Ala107dup)	NC_000005.9:g.127419946_127419954dup	VUS	1 lab	6dd4baf446
X:19398257 MAP3K15 G>A	X	19398257	19398257	G	A	MAP3K15	c.2570C>T	NM_001001671.4	NP_001001671.3:p.(Pro857Leu)	NC_000023.10:g.19398257G>A	VUS	1 lab	6dd500c3b1
6:137193340 PEX7 C>T	6	137193340	137193340	C	T	PEX7	c.752C>T	NM_000288.4	NP_000279.1:p.(Ser251Leu)	NC_000006.11:g.137193340C>T	(Likely) benign	1 lab	6dd5b4847f
6:27782407 H2AC14 C>T	6	27782407	27782407	C	T	H2AC14	c.112G>A	NM_021066.3	NP_066544.1:p.(Gly38Ser)	NC_000006.11:g.27782407C>T	VUS	1 lab	6dd6bd0e6c
6:33756706 LEMD2 C>A	6	33756706	33756706	C	A	LEMD2	c.188G>T	NM_181336.4	NP_851853.1:p.(Arg63Leu)	NC_000006.11:g.33756706C>A	VUS	1 lab	6dd86a32e5
2:10583918 ODC1 C>T	2	10583918	10583918	C	T	ODC1	c.494G>A	NM_002539.3	NP_002530.1:p.(Arg165His)	NC_000002.11:g.10583918C>T	VUS	1 lab	6dd8c0ff92
11:46897524 LRP4 GA>G	11	46897524	46897525	GA	G	LRP4	c.3537-8del	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46897525del	VUS	1 lab	6dd98c5204
16:30750255 SRCAP G>A	16	30750255	30750255	G	A	SRCAP	c.8894G>A	NM_006662.3	NP_006653.2:p.(Arg2965Gln)	NC_000016.9:g.30750255G>A	(Likely) benign	1 lab	6ddb63d27c
15:75649189 MAN2C1 G>A	15	75649189	75649189	G	A	MAN2C1	c.2602C>T	NM_006715.4	NP_006706.2:p.(Leu868Phe)	NC_000015.9:g.75649189G>A	VUS	1 lab	6ddc510ceb
1:246493836 SMYD3 C>A	1	246493836	246493836	C	A	SMYD3	c.340G>T	NM_001167740.2	NP_001161212.1:p.(Asp114Tyr)	NC_000001.10:g.246493836C>A	(Likely) benign	1 lab	6dde139903
1:55070053 ACOT11 A>C	1	55070053	55070053	A	C	ACOT11	c.1187A>C	NM_147161.4	NP_671517.1:p.(Lys396Thr)	NC_000001.10:g.55070053A>C	VUS	1 lab	6ddea4586c
14:79175780 NRXN3 A>G	14	79175780	79175780	A	G	NRXN3	c.1442A>G	NM_001330195.2	NP_001317124.1:p.(Asn481Ser)	NC_000014.8:g.79175780A>G	VUS	1 lab	6ddf1c8f5e
22:26291120 MYO18B C>T	22	26291120	26291120	C	T	MYO18B	c.4544-3C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26291120C>T	(Likely) benign	1 lab	6ddfbfb265
11:14902215 CYP2R1 G>C	11	14902215	14902215	G	C	CYP2R1	c.467C>G	NM_024514.5	NP_078790.2:p.(Ser156Cys)	NC_000011.9:g.14902215G>C	VUS	1 lab	6ddff78e0c
X:35966453 CFAP47 C>T	X	35966453	35966453	C	T	CFAP47	c.540C>T	NM_001304548.2	NP_001291477.1:p.(His180=)	NC_000023.10:g.35966453C>T	(Likely) benign	1 lab	6de0410847
4:13544126 NKX3-2 C>G	4	13544126	13544126	C	G	NKX3-2	c.493G>C	NM_001189.4	NP_001180.1:p.(Asp165His)	NC_000004.11:g.13544126C>G	(Likely) benign	1 lab	6de3cff3e4
10:43623658 RET T>C	10	43623658	43623658	T	C	RET	c.3286T>C	NM_020975.6	NP_066124.1:p.(Tyr1096His)	NC_000010.10:g.43623658T>C	VUS	1 lab	6de5b31f4c
X:102840616 TCEAL4 G>C	X	102840616	102840616	G	C	TCEAL4	c.-101+64G>C	NM_001006935.3	NP_001006936.1:p.?	NC_000023.10:g.102840616G>C	VUS	1 lab	6de631372b
20:50241724 ATP9A G>A	20	50241724	50241724	G	A	ATP9A	c.2016+7C>T	NM_006045.3	NP_006036.1:p.?	NC_000020.10:g.50241724G>A	(Likely) benign	1 lab	6de7d9f059
19:50098815 PRR12 C>A	19	50098815	50098815	C	A	PRR12	c.1223C>A	NM_020719.3	NP_065770.1:p.(Pro408Gln)	NC_000019.9:g.50098815C>A	(Likely) benign	1 lab	6de91e79c3
10:97442531 TCTN3 C>CTGCA	10	97442531	97442535	C	CTGCA	TCTN3	c.1325_1328dup	NM_015631.6	NP_056446.4:p.(Gln443HisfsTer23)	NC_000010.10:g.97442532_97442535dup	(Likely) pathogenic	1 lab	23ddfd9c99
2:166755243 TTC21B T>C	2	166755243	166755243	T	C	TTC21B	c.2903A>G	NM_024753.5	NP_079029.3:p.(Tyr968Cys)	NC_000002.11:g.166755243T>C	VUS	1 lab	6dec78c89a
16:1818561 MAPK8IP3 G>A	16	1818561	1818561	G	A	MAPK8IP3	c.3826G>A	NM_001318852.2	NP_001305781.1:p.(Glu1276Lys)	NC_000016.9:g.1818561G>A	(Likely) benign	1 lab	6deec11bc3
6:79680915 PHIP T>C	6	79680915	79680915	T	C	PHIP	c.2890-310A>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79680915T>C	(Likely) benign	1 lab	6def33fb12
17:60045584 MED13 T>A	17	60045584	60045584	T	A	MED13	c.4003A>T	NM_005121.3	NP_005112.2:p.(Thr1335Ser)	NC_000017.10:g.60045584T>A	(Likely) benign	1 lab	6df2087b79
12:62784700 USP15 G>T	12	62784700	62784700	G	T	USP15	c.1901G>T	NM_001252078.2	NP_001239007.1:p.(Cys634Phe)	NC_000012.11:g.62784700G>T	(Likely) benign	1 lab	6df2204693
19:13007130 GCDH G>T	19	13007130	13007130	G	T	GCDH	c.747G>T	NM_000159.4	NP_000150.1:p.(Arg249Ser)	NC_000019.9:g.13007130G>T	VUS	1 lab	6df538ce6b
1:176659510 PAPPA2 C>T	1	176659510	176659510	C	T	PAPPA2	c.2375C>T	NM_020318.3	NP_064714.2:p.(Thr792Ile)	NC_000001.10:g.176659510C>T	VUS	1 lab	6df64490e8
16:69374241 NIP7 T>TG	16	69374241	69374245	T	TG	NIP7	c.282+10dup	NM_016101.5	NP_057185.1:p.?	NC_000016.9:g.69374245dup	VUS	1 lab	6df6979877
4:8620237 CPZ C>T	4	8620237	8620237	C	T	CPZ	c.1585C>T	NM_001014447.3	NP_001014447.2:p.(Arg529Cys)	NC_000004.11:g.8620237C>T	VUS	1 lab	6df713f806
1:39896387 MACF1 A>C	1	39896387	39896387	A	C	MACF1	c.17144A>C	NM_001394062.1	NP_001380991.1:p.(Glu5715Ala)	NC_000001.10:g.39896387A>C	(Likely) benign	1 lab	6df8347831
15:34040723 RYR3 G>A	15	34040723	34040723	G	A	RYR3	c.8191G>A	NM_001036.6	NP_001027.3:p.(Glu2731Lys)	NC_000015.9:g.34040723G>A	VUS	1 lab	6dfcc485fc
7:92730745 SAMD9 C>T	7	92730745	92730745	C	T	SAMD9	c.4666G>A	NM_017654.4	NP_060124.2:p.(Ala1556Thr)	NC_000007.13:g.92730745C>T	(Likely) benign	1 lab	6dfd149d63
17:61574575 ACE G>A	17	61574575	61574575	G	A	ACE	c.3769G>A	NM_000789.4	NP_000780.1:p.(Val1257Met)	NC_000017.10:g.61574575G>A	(Likely) benign	1 lab	6dfd804c1e
12:113607697 DDX54 C>T	12	113607697	113607697	C	T	DDX54	c.1292G>A	NM_024072.4	NP_076977.3:p.(Arg431Gln)	NC_000012.11:g.113607697C>T	VUS	1 lab	6e0264bb32
11:68207287 LRP5 T>C	11	68207287	68207287	T	C	LRP5	c.4391T>C	NM_002335.4	NP_002326.2:p.(Met1464Thr)	NC_000011.9:g.68207287T>C	VUS	1 lab	6e02aa3d10
3:77595544 ROBO2 A>G	3	77595544	77595544	A	G	ROBO2	c.1002A>G	NM_001290040.2	NP_001276969.1:p.(Thr334=)	NC_000003.11:g.77595544A>G	(Likely) benign	1 lab	23e1bd2496
6:111695952 REV3L A>C	6	111695952	111695952	A	C	REV3L	c.3606T>G	NM_001372078.1	NP_001359007.1:p.(Asp1202Glu)	NC_000006.11:g.111695952A>C	(Likely) benign	1 lab	6e02fe3001
16:3294068 MEFV C>T	16	3294068	3294068	C	T	MEFV	c.1760-176G>A	NM_000243.3	NP_000234.1:p.?	NC_000016.9:g.3294068C>T	VUS	1 lab	6e04168da4
20:60910146 LAMA5 C>T	20	60910146	60910146	C	T	LAMA5	c.2413G>A	NM_005560.6	NP_005551.3:p.(Gly805Ser)	NC_000020.10:g.60910146C>T	VUS	1 lab	6e05f1feab
4:47645061 CORIN G>A	4	47645061	47645061	G	A	CORIN	c.2068+102C>T	NM_006587.4	NP_006578.2:p.?	NC_000004.11:g.47645061G>A	(Likely) benign	1 lab	6e0600455c
7:44259723 CAMK2B C>T	7	44259723	44259723	C	T	CAMK2B	c.1939G>A	NM_001220.5	NP_001211.3:p.(Asp647Asn)	NC_000007.13:g.44259723C>T	VUS	1 lab	6e08d66b47
7:66456248 SBDS A>G	7	66456248	66456248	A	G	SBDS	c.500T>C	NM_016038.4	NP_057122.2:p.(Ile167Thr)	NC_000007.13:g.66456248A>G	VUS	1 lab	6e09500afc
2:131672630 ARHGEF4 C>T	2	131672630	131672630	C	T	ARHGEF4	c.1111C>T	NM_001367493.1	NP_001354422.1:p.(Arg371Ter)	NC_000002.11:g.131672630C>T	VUS	1 lab	6e095c57c4
12:49420663 KMT2D A>G	12	49420663	49420663	A	G	KMT2D	c.15086T>C	NM_003482.4	NP_003473.3:p.(Met5029Thr)	NC_000012.11:g.49420663A>G	VUS	1 lab	6e09c3cd25
20:44599926 ZNF335 C>T	20	44599926	44599926	C	T	ZNF335	c.124G>A	NM_022095.4	NP_071378.1:p.(Ala42Thr)	NC_000020.10:g.44599926C>T	VUS	1 lab	6e0ed6ad53
16:1402153 GNPTG G>A	16	1402153	1402153	G	A	GNPTG	c.103G>A	NM_032520.5	NP_115909.1:p.(Ala35Thr)	NC_000016.9:g.1402153G>A	(Likely) benign	1 lab	6e0ef20867
4:86938504 MAPK10 A>C	4	86938504	86938504	A	C	MAPK10	c.1272T>G	NM_138982.4	NP_620448.1:p.(Ser424Arg)	NC_000004.11:g.86938504A>C	VUS	1 lab	6e1330b515
18:20573562 RBBP8 G>A	18	20573562	20573562	G	A	RBBP8	c.1772G>A	NM_002894.3	NP_002885.1:p.(Arg591His)	NC_000018.9:g.20573562G>A	(Likely) benign	1 lab	6e14c81700
16:70852240 HYDIN C>T	16	70852240	70852240	C	T	HYDIN	c.14658+5G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70852240C>T	(Likely) benign	1 lab	6e172f80b8
21:39755582 ERG TC>T	21	39755582	39755585	TC	T	ERG	c.1182del	NM_182918.4	NP_891548.1:p.(Ile395SerfsTer34)	NC_000021.8:g.39755585del	VUS	1 lab	6e191d9d24
1:228444389 OBSCN C>CAGGGAG	1	228444389	228444395	C	CAGGGAG	OBSCN	c.4624_4629dup	NM_001386125.1	NP_001373054.1:p.(Arg1542_Glu1543dup)	NC_000001.10:g.228444390_228444395dup	VUS	1 lab	6e1949ec98
11:22281279 ANO5 C>CA	11	22281279	22281284	C	CA	ANO5	c.1627dup	NM_213599.3	NP_998764.1:p.(Met543AsnfsTer11)	NC_000011.9:g.22281284dup	(Likely) pathogenic	1 lab	6e1acad71b
8:117954935 AARD GA>G	8	117954935	117954937	GA	G	AARD	c.465del	NM_001025357.3	NP_001020528.1:p.(Glu155AspfsTer34)	NC_000008.10:g.117954937del	(Likely) benign	1 lab	6e1ce03da8
X:54839918 MAGED2 C>T	X	54839918	54839918	C	T	MAGED2	c.1209-3C>T	NM_177433.3	NP_803182.1:p.?	NC_000023.10:g.54839918C>T	(Likely) benign	1 lab	6e1d4f1e8b
7:92763035 SAMD9L C>G	7	92763035	92763035	C	G	SAMD9L	c.2250G>C	NM_152703.5	NP_689916.2:p.(Leu750=)	NC_000007.13:g.92763035C>G	(Likely) benign	1 lab	23e535a684
21:47863822 PCNT G>A	21	47863822	47863822	G	A	PCNT	c.9800G>A	NM_006031.6	NP_006022.3:p.(Arg3267His)	NC_000021.8:g.47863822G>A	(Likely) benign	1 lab	6e1db34e78
3:4693853 ITPR1 G>C	3	4693853	4693853	G	C	ITPR1	c.902G>C	NM_001378452.1	NP_001365381.1:p.(Ser301Thr)	NC_000003.11:g.4693853G>C	VUS	1 lab	6e1e2168a8
14:65220354 SPTB G>A	14	65220354	65220354	G	A	SPTB	c.6503C>T	NM_001355436.2	NP_001342365.1:p.(Thr2168Met)	NC_000014.8:g.65220354G>A	VUS	1 lab	6e1e35c9f8
10:93668626 FGFBP3 C>T	10	93668626	93668626	C	T	FGFBP3	c.101G>A	NM_152429.5	NP_689642.3:p.(Ser34Asn)	NC_000010.10:g.93668626C>T	(Likely) benign	1 lab	6e1f0ccebc
1:103467508 COL11A1 T>C	1	103467508	103467508	T	C	COL11A1	c.2115A>G	NM_001854.4	NP_001845.3:p.(Gln705=)	NC_000001.10:g.103467508T>C	(Likely) benign	1 lab	6e1f9518b1
5:36985794 NIPBL T>C	5	36985794	36985794	T	C	NIPBL	c.2512T>C	NM_133433.4	NP_597677.2:p.(Ser838Pro)	NC_000005.9:g.36985794T>C	VUS	1 lab	6e459df441
2:167056272 SCN9A C>G	2	167056272	167056272	C	G	SCN9A	c.4877G>C	NM_001365536.1	NP_001352465.1:p.(Gly1626Ala)	NC_000002.11:g.167056272C>G	VUS	1 lab	6e1ff48181
11:71150026 DHCR7 C>T	11	71150026	71150026	C	T	DHCR7	c.730G>A	NM_001360.3	NP_001351.2:p.(Gly244Arg)	NC_000011.9:g.71150026C>T	(Likely) pathogenic	1 lab	6e203b6d80
9:138656862 KCNT1 G>A	9	138656862	138656862	G	A	KCNT1	c.1036-15G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138656862G>A	(Likely) benign	1 lab	23e71eb6af
11:4150379 RRM1 A>C	11	4150379	4150379	A	C	RRM1	c.1768A>C	NM_001033.5	NP_001024.1:p.(Lys590Gln)	NC_000011.9:g.4150379A>C	VUS	1 lab	6e22c60e41
12:22012569 ABCC9 C>G	12	22012569	22012569	C	G	ABCC9	c.2456G>C	NM_020297.4	NP_064693.2:p.(Arg819Thr)	NC_000012.11:g.22012569C>G	VUS	1 lab	6e22cf0184
4:123155995 BLTP1 G>A	4	123155995	123155995	G	A	BLTP1	c.3391G>A	NM_001384125.1	NP_001371054.1:p.(Gly1131Ser)	NC_000004.11:g.123155995G>A	(Likely) pathogenic	1 lab	6e237994a2
16:2165451 PKD1 T>TAGCCCTGGCC	16	2165451	2165461	T	TAGCCCTGGCC	PKD1	c.2015_2024dup	NM_001009944.3	NP_001009944.3:p.(Pro676AlafsTer41)	NC_000016.9:g.2165452_2165461dup	(Likely) pathogenic	1 lab	6e24ec06fa
17:39974337 FKBP10 A>G	17	39974337	39974337	A	G	FKBP10	c.392-4A>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39974337A>G	(Likely) benign	1 lab	6e27780a9f
1:53792638 LRP8 G>T	1	53792638	53792638	G	T	LRP8	c.151C>A	NM_004631.5	NP_004622.2:p.(Gln51Lys)	NC_000001.10:g.53792638G>T	VUS	1 lab	6e280c870e
13:23910867 SACS C>T	13	23910867	23910867	C	T	SACS	c.7148G>A	NM_014363.6	NP_055178.3:p.(Arg2383His)	NC_000013.10:g.23910867C>T	VUS	1 lab	6e28c081bc
13:39261653 FREM2 C>T	13	39261653	39261653	C	T	FREM2	c.172C>T	NM_207361.6	NP_997244.4:p.(Pro58Ser)	NC_000013.10:g.39261653C>T	VUS	1 lab	6e28e74657
2:152418639 NEB G>A	2	152418639	152418639	G	A	NEB	c.18981C>T	NM_001164508.2	NP_001157980.2:p.(Tyr6327=)	NC_000002.11:g.152418639G>A	(Likely) benign	1 lab	6e293c7c1e
12:48369144 COL2A1 C>T	12	48369144	48369144	C	T	COL2A1	c.3842G>A	NM_001844.5	NP_001835.3:p.(Arg1281His)	NC_000012.11:g.48369144C>T	VUS	1 lab	6e2ba9800b
7:48337984 ABCA13 T>C	7	48337984	48337984	T	C	ABCA13	c.9221T>C	NM_152701.5	NP_689914.3:p.(Met3074Thr)	NC_000007.13:g.48337984T>C	VUS	1 lab	6e2ddbe51a
2:179396115 TTN G>A	2	179396115	179396115	G	A	TTN	c.105227C>T	NM_001267550.2	NP_001254479.2:p.(Ser35076Leu)	NC_000002.11:g.179396115G>A	VUS	1 lab	6e2e405578
12:49434351 KMT2D C>T	12	49434351	49434351	C	T	KMT2D	c.7202G>A	NM_003482.4	NP_003473.3:p.(Arg2401His)	NC_000012.11:g.49434351C>T	(Likely) benign	1 lab	6e2eb801f4
5:127671715 FBN2 C>A	5	127671715	127671715	C	A	FBN2	c.3689G>T	NM_001999.4	NP_001990.2:p.(Gly1230Val)	NC_000005.9:g.127671715C>A	VUS	1 lab	6e30d572ed
12:56749311 STAT2 T>G	12	56749311	56749311	T	G	STAT2	c.387A>C	NM_005419.4	NP_005410.1:p.(Gln129His)	NC_000012.11:g.56749311T>G	VUS	1 lab	6e31520699
14:93943916 UNC79 C>T	14	93943916	93943916	C	T	UNC79	c.461C>T	NM_001395159.1	NP_001382088.1:p.(Ser154Leu)	NC_000014.8:g.93943916C>T	VUS	1 lab	6e31b57640
19:12812177 TNPO2 C>T	19	12812177	12812177	C	T	TNPO2	c.2677G>A	NM_001382241.1	NP_001369170.1:p.(Ala893Thr)	NC_000019.9:g.12812177C>T	(Likely) benign	1 lab	6e345bc475
12:120151367 CIT C>T	12	120151367	120151367	C	T	CIT	c.4393G>A	NM_001206999.2	NP_001193928.1:p.(Glu1465Lys)	NC_000012.11:g.120151367C>T	VUS	1 lab	6e34ac2b79
9:140709171 EHMT1 G>A	9	140709171	140709171	G	A	EHMT1	c.3258+211G>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140709171G>A	(Likely) benign	1 lab	6e3519c65c
6:74320278 SLC17A5 T>G	6	74320278	74320278	T	G	SLC17A5	c.1112-8A>C	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74320278T>G	(Likely) benign	1 lab	6e355cd2ee
19:45895604 PPP1R13L C>A	19	45895604	45895604	C	A	PPP1R13L	c.1355-6G>T	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45895604C>A	(Likely) benign	1 lab	6e35671b35
17:16665776 CCDC144A A>C	17	16665776	16665776	A	C	CCDC144A	c.3816A>C	NM_001382000.1	NP_001368929.1:p.(Glu1272Asp)	NC_000017.10:g.16665776A>C	(Likely) benign	1 lab	6e371438fd
2:161174740 RBMS1 TAAA>T	2	161174740	161174763	TAAA	T	RBMS1	c.252-5_252-3del	NM_016836.4	NP_058520.1:p.?	NC_000002.11:g.161174761_161174763del	(Likely) benign	1 lab	6e38153224
9:94487040 ROR2 T>A	9	94487040	94487040	T	A	ROR2	c.1736A>T	NM_004560.4	NP_004551.2:p.(Asp579Val)	NC_000009.11:g.94487040T>A	VUS	1 lab	6e38418d39
15:89400554 ACAN G>T	15	89400554	89400554	G	T	ACAN	c.4738G>T	NM_001369268.1	NP_001356197.1:p.(Ala1580Ser)	NC_000015.9:g.89400554G>T	VUS	1 lab	6e39ce0efe
7:75959311 YWHAG G>C	7	75959311	75959311	G	C	YWHAG	c.327C>G	NM_012479.4	NP_036611.2:p.(Ile109Met)	NC_000007.13:g.75959311G>C	VUS	1 lab	6e3a7c401e
11:118968662 DPAGT1 T>A	11	118968662	118968662	T	A	DPAGT1	c.820A>T	NM_001382.4	NP_001373.2:p.(Thr274Ser)	NC_000011.9:g.118968662T>A	VUS	1 lab	6e3a83e15a
16:15814796 MYH11 C>T	16	15814796	15814796	C	T	MYH11	c.4691G>A	NM_002474.3	NP_002465.1:p.(Arg1564Gln)	NC_000016.9:g.15814796C>T	VUS	1 lab	6e3aa4ee1e
22:40708901 TNRC6B C>T	22	40708901	40708901	C	T	TNRC6B	c.4583-5C>T	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40708901C>T	(Likely) benign	1 lab	6e3ae4600e
9:135946605 CEL CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG>C	9	135946605	135946654	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	CEL	c.1733_1765del	NM_001807.6	NP_001798.3:p.(Glu578_Ser588del)	NC_000009.11:g.135946622_135946654del	(Likely) benign	1 lab	6e3d16c49a
16:23390057 SCNN1B C>T	16	23390057	23390057	C	T	SCNN1B	c.1435C>T	NM_000336.3	NP_000327.2:p.(Arg479Trp)	NC_000016.9:g.23390057C>T	(Likely) benign	1 lab	6e3d6edea2
10:90528612 LIPN G>A	10	90528612	90528612	G	A	LIPN	c.599G>A	NM_001102469.2	NP_001095939.1:p.(Gly200Asp)	NC_000010.10:g.90528612G>A	VUS	1 lab	6e3db62eae
17:62082604 ICAM2 A>G	17	62082604	62082604	A	G	ICAM2	c.191T>C	NM_001099789.2	NP_001093259.1:p.(Leu64Pro)	NC_000017.10:g.62082604A>G	VUS	1 lab	6e3e5f558f
6:90572060 CASP8AP2 C>T	6	90572060	90572060	C	T	CASP8AP2	c.632C>T	NM_001137667.2	NP_001131139.1:p.(Thr211Ile)	NC_000006.11:g.90572060C>T	(Likely) benign	1 lab	6e3f1cca25
2:20867122 GDF7 G>GGGCGGCGGCGGCGGCGGC	2	20867122	20867148	G	GGGCGGCGGCGGCGGCGGC	GDF7	c.132_149dup	NM_182828.4	NP_878248.2:p.(Gly45_Gly50dup)	NC_000002.11:g.20867131_20867148dup	VUS	1 lab	6e3fac8f84
3:23934707 NKIRAS1 T>TA	3	23934707	23934708	T	TA	NKIRAS1	c.457_458insT	NM_020345.4	NP_065078.1:p.(Asp153ValfsTer7)	NC_000003.11:g.23934707_23934708insA	VUS	1 lab	6e4040b4aa
15:43677979 TUBGCP4 C>A	15	43677979	43677979	C	A	TUBGCP4	c.724-10C>A	NM_014444.5	NP_055259.2:p.?	NC_000015.9:g.43677979C>A	(Likely) benign	1 lab	6e40e31702
X:92928252 NAP1L3 C>A	X	92928252	92928252	C	A	NAP1L3	c.52G>T	NM_004538.6	NP_004529.2:p.(Ala18Ser)	NC_000023.10:g.92928252C>A	VUS	1 lab	6e4245aa05
2:25472552 DNMT3A G>A	2	25472552	25472552	G	A	DNMT3A	c.640-1431C>T	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25472552G>A	(Likely) benign	1 lab	6e429a80a3
2:74451971 SLC4A5 T>G	2	74451971	74451971	T	G	SLC4A5	c.3242A>C	NM_133478.3	NP_597812.1:p.(Glu1081Ala)	NC_000002.11:g.74451971T>G	(Likely) benign	1 lab	6e4351544d
22:42032585 XRCC6 A>G	22	42032585	42032585	A	G	XRCC6	c.400A>G	NM_001469.5	NP_001460.1:p.(Met134Val)	NC_000022.10:g.42032585A>G	VUS	1 lab	6e437d61d9
8:119122868 EXT1 C>T	8	119122868	119122868	C	T	EXT1	c.418G>A	NM_000127.3	NP_000118.2:p.(Gly140Ser)	NC_000008.10:g.119122868C>T	(Likely) benign	1 lab	6e43e4b92c
19:18961491 UPF1 CT>C	19	18961491	18961492	CT	C	UPF1	c.630-5del	NM_002911.4	NP_002902.2:p.?	NC_000019.9:g.18961492del	(Likely) benign	1 lab	6e462fa9b0
13:110802743 COL4A1 G>T	13	110802743	110802743	G	T	COL4A1	c.4977C>A	NM_001845.6	NP_001836.3:p.(Val1659=)	NC_000013.10:g.110802743G>T	(Likely) benign	1 lab	6e47bea118
16:67681972 CARMIL2 G>T	16	67681972	67681972	G	T	CARMIL2	c.1089G>T	NM_001013838.3	NP_001013860.1:p.(Leu363=)	NC_000016.9:g.67681972G>T	VUS	1 lab	6e483655cf
9:139235559 GPSM1 G>A	9	139235559	139235559	G	A	GPSM1	c.1207+109G>A	NM_001145638.3	NP_001139110.2:p.?	NC_000009.11:g.139235559G>A	(Likely) benign	1 lab	6e491d9330
2:71653927 ZNF638 T>C	2	71653927	71653927	T	C	ZNF638	c.4928T>C	NM_014497.5	NP_055312.2:p.(Phe1643Ser)	NC_000002.11:g.71653927T>C	VUS	1 lab	6e49c99595
16:3778837 CREBBP G>T	16	3778837	3778837	G	T	CREBBP	c.6211C>A	NM_004380.3	NP_004371.2:p.(Leu2071Met)	NC_000016.9:g.3778837G>T	VUS	1 lab	6e49daceb2
3:47164458 SETD2 TTTATAACGGGAAG>T	3	47164458	47164471	TTTATAACGGGAAG	T	SETD2	c.1655_1667del	NM_014159.7	NP_054878.5:p.(Ala552AspfsTer23)	NC_000003.11:g.47164459_47164471del	VUS	1 lab	6e4a602599
9:35808618 NPR2 C>A	9	35808618	35808618	C	A	NPR2	c.2825C>A	NM_003995.4	NP_003986.2:p.(Ser942Tyr)	NC_000009.11:g.35808618C>A	VUS	1 lab	6e4af81b96
5:176025296 GPRIN1 C>A	5	176025296	176025296	C	A	GPRIN1	c.1540G>T	NM_052899.3	NP_443131.2:p.(Ala514Ser)	NC_000005.9:g.176025296C>A	(Likely) benign	1 lab	6e4b5d8824
9:95947501 WNK2 C>T	9	95947501	95947501	C	T	WNK2	c.290C>T	NM_006648.4	NP_006639.3:p.(Ala97Val)	NC_000009.11:g.95947501C>T	VUS	1 lab	6e4b83dab5
1:20987702 DDOST G>A	1	20987702	20987702	G	A	DDOST	c.142C>T	NM_005216.5	NP_005207.3:p.(Arg48Trp)	NC_000001.10:g.20987702G>A	VUS	1 lab	6ff8797493
19:15303053 NOTCH3 G>A	19	15303053	15303053	G	A	NOTCH3	c.397C>T	NM_000435.3	NP_000426.2:p.(Arg133Cys)	NC_000019.9:g.15303053G>A	(Likely) pathogenic	1 lab	6e4d33e1e2
8:141461230 TRAPPC9 G>C	8	141461230	141461230	G	C	TRAPPC9	c.243C>G	NM_001160372.4	NP_001153844.1:p.(Ile81Met)	NC_000008.10:g.141461230G>C	VUS	1 lab	6e4d5f80a7
11:637570 DRD4 C>T	11	637570	637570	C	T	DRD4	c.266C>T	NM_000797.4	NP_000788.2:p.(Pro89Leu)	NC_000011.9:g.637570C>T	VUS	1 lab	6e4f686719
12:88465111 CEP290 T>C	12	88465111	88465111	T	C	CEP290	c.5971A>G	NM_025114.4	NP_079390.3:p.(Lys1991Glu)	NC_000012.11:g.88465111T>C	VUS	1 lab	6e4ffa37d0
9:124976061 LHX6 T>A	9	124976061	124976061	T	A	LHX6	c.880-2A>T	NM_014368.5	NP_055183.2:p.?	NC_000009.11:g.124976061T>A	VUS	1 lab	6e547ac638
17:42978436 DNAAF19 G>A	17	42978436	42978436	G	A	DNAAF19	c.70G>A	NM_213607.3	NP_998772.1:p.(Glu24Lys)	NC_000017.10:g.42978436G>A	VUS	1 lab	6e556bf444
3:148930444 CP A>G	3	148930444	148930444	A	G	CP	c.188T>C	NM_000096.4	NP_000087.2:p.(Ile63Thr)	NC_000003.11:g.148930444A>G	VUS	1 lab	2288c0b450
5:89941904 ADGRV1 T>C	5	89941904	89941904	T	C	ADGRV1	c.3018T>C	NM_032119.4	NP_115495.3:p.(Phe1006=)	NC_000005.9:g.89941904T>C	VUS	1 lab	6e58671566
1:17380443 SDHB C>G	1	17380443	17380443	C	G	SDHB	c.72G>C	NM_003000.3	NP_002991.2:p.(Gln24His)	NC_000001.10:g.17380443C>G	VUS	1 lab	6e58d6c9d0
20:44640891 MMP9 C>CTGGTGCGCTACCACCTCGAACTT	20	44640891	44640916	C	CTGGTGCGCTACCACCTCGAACTT	MMP9	c.1116_1138dup	NM_004994.3	NP_004985.2:p.(Asp380GlyfsTer38)	NC_000020.10:g.44640894_44640916dup	(Likely) pathogenic	1 lab	6e58fed78e
11:113073066 NCAM1 TTTTTG>T	11	113073066	113073095	TTTTTG	T	NCAM1	c.53-10_53-6del	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113073091_113073095del	VUS	1 lab	6e599f5f84
X:35937926 CFAP47 C>T	X	35937926	35937926	C	T	CFAP47	c.10C>T	NM_001304548.2	NP_001291477.1:p.(Gln4Ter)	NC_000023.10:g.35937926C>T	VUS	1 lab	6e5bacad65
20:896574 ANGPT4 T>C	20	896574	896574	T	C	ANGPT4	c.284A>G	NM_015985.4	NP_057069.1:p.(Gln95Arg)	NC_000020.10:g.896574T>C	(Likely) benign	1 lab	6e5caf9218
2:44172500 LRPPRC C>T	2	44172500	44172500	C	T	LRPPRC	c.2267G>A	NM_133259.4	NP_573566.2:p.(Arg756Lys)	NC_000002.11:g.44172500C>T	(Likely) benign	1 lab	6e5f41a97a
12:12871860 CDKN1B C>T	12	12871860	12871860	C	T	CDKN1B	c.577C>T	NM_004064.5	NP_004055.1:p.(Leu193Phe)	NC_000012.11:g.12871860C>T	(Likely) benign	1 lab	6e6028284e
1:155320488 ASH1L C>T	1	155320488	155320488	C	T	ASH1L	c.7367-1101G>A	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155320488C>T	(Likely) benign	1 lab	6e6179830a
22:23915702 IGLL1 A>G	22	23915702	23915702	A	G	IGLL1				NC_000022.10:g.23915702A>G	(Likely) benign	1 lab	23edffd428
1:200974018 KIF21B G>A	1	200974018	200974018	G	A	KIF21B	c.776C>T	NM_001252102.2	NP_001239031.1:p.(Ser259Leu)	NC_000001.10:g.200974018G>A	VUS	1 lab	6e69ea6f0b
17:61829355 CCDC47 G>A	17	61829355	61829355	G	A	CCDC47	c.1316C>T	NM_020198.3	NP_064583.2:p.(Ala439Val)	NC_000017.10:g.61829355G>A	VUS	1 lab	6e6b7437d0
2:207988981 KLF7 C>T	2	207988981	207988981	C	T	KLF7	c.250G>A	NM_003709.4	NP_003700.1:p.(Val84Met)	NC_000002.11:g.207988981C>T	(Likely) benign	1 lab	6e6cbf9144
3:33099597 GLB1 C>T	3	33099597	33099597	C	T	GLB1	c.717G>A	NM_000404.4	NP_000395.3:p.(Thr239=)	NC_000003.11:g.33099597C>T	(Likely) benign	1 lab	228a1a4142
11:64521022 PYGM G>A	11	64521022	64521022	G	A	PYGM	c.1372C>T	NM_005609.4	NP_005600.1:p.(Arg458Cys)	NC_000011.9:g.64521022G>A	VUS	1 lab	6e6da0b021
9:2646461 VLDLR T>A	9	2646461	2646461	T	A	VLDLR	c.1612T>A	NM_003383.5	NP_003374.3:p.(Ser538Thr)	NC_000009.11:g.2646461T>A	(Likely) benign	1 lab	6e6e3b4550
2:86269171 POLR1A T>G	2	86269171	86269171	T	G	POLR1A	c.3413A>C	NM_015425.6	NP_056240.2:p.(Lys1138Thr)	NC_000002.11:g.86269171T>G	VUS	1 lab	6e6edf28e7
11:13733355 FAR1 G>A	11	13733355	13733355	G	A	FAR1	c.768G>A	NM_032228.6	NP_115604.1:p.(Ala256=)	NC_000011.9:g.13733355G>A	VUS	1 lab	6e6f953b54
17:80755630 TBCD TAGGCACAAA>T	17	80755630	80755639	TAGGCACAAA	T	TBCD	c.772-2_778del	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80755631_80755639del	(Likely) benign	1 lab	6e70b50951
1:17318746 ATP13A2 G>A	1	17318746	17318746	G	A	ATP13A2	c.1997C>T	NM_022089.4	NP_071372.1:p.(Pro666Leu)	NC_000001.10:g.17318746G>A	(Likely) benign	1 lab	6e715b390d
5:140070799 HARS1 C>G	5	140070799	140070799	C	G	HARS1	c.90+1G>C	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140070799C>G	VUS	1 lab	6e728ee459
5:13777417 DNAH5 C>T	5	13777417	13777417	C	T	DNAH5	c.8999G>A	NM_001369.3	NP_001360.1:p.(Arg3000Gln)	NC_000005.9:g.13777417C>T	VUS	1 lab	6e748f1456
10:102541069 PAX2 A>G	10	102541069	102541069	A	G	PAX2	c.563A>G	NM_000278.5	NP_000269.3:p.(Asn188Ser)	NC_000010.10:g.102541069A>G	(Likely) benign	1 lab	6e74a6e0d2
2:167083154 SCN9A T>C	2	167083154	167083154	T	C	SCN9A	c.4321A>G	NM_001365536.1	NP_001352465.1:p.(Ile1441Val)	NC_000002.11:g.167083154T>C	VUS	1 lab	6e75aa4514
16:1254152 CACNA1H C>T	16	1254152	1254152	C	T	CACNA1H	c.2145C>T	NM_021098.3	NP_066921.2:p.(Ser715=)	NC_000016.9:g.1254152C>T	(Likely) benign	1 lab	23f0e3e61b
12:125591695 AACS G>A	12	125591695	125591695	G	A	AACS	c.796G>A	NM_023928.5	NP_076417.2:p.(Gly266Ser)	NC_000012.11:g.125591695G>A	VUS	1 lab	6e7781c95b
19:3526472 FZR1 C>T	19	3526472	3526472	C	T	FZR1	c.387+88C>T	NM_016263.4	NP_057347.2:p.?	NC_000019.9:g.3526472C>T	(Likely) benign	1 lab	6e78a9ae95
X:50085212 CCNB3 G>T	X	50085212	50085212	G	T	CCNB3	c.3528G>T	NM_033031.3	NP_149020.2:p.(Glu1176Asp)	NC_000023.10:g.50085212G>T	VUS	1 lab	6e79362fbc
11:6643237 DCHS1 CTG>C	11	6643237	6643242	CTG	C	DCHS1	c.9668_9669del	NM_003737.4	NP_003728.1:p.(Thr3223SerfsTer19)	NC_000011.9:g.6643241_6643242del	VUS	1 lab	6e7b49c045
19:38948872 RYR1 G>A	19	38948872	38948872	G	A	RYR1	c.2107G>A	NM_000540.3	NP_000531.2:p.(Gly703Ser)	NC_000019.9:g.38948872G>A	VUS	1 lab	6e7e42b01f
4:2831856 SH3BP2 C>T	4	2831856	2831856	C	T	SH3BP2	c.1223C>T	NM_001122681.2	NP_001116153.1:p.(Pro408Leu)	NC_000004.11:g.2831856C>T	(Likely) benign	1 lab	6e7efc5121
X:150840153 PASD1 C>T	X	150840153	150840153	C	T	PASD1	c.1339C>T	NM_173493.3	NP_775764.2:p.(Pro447Ser)	NC_000023.10:g.150840153C>T	(Likely) benign	1 lab	6e7f1f7293
5:14497085 TRIO C>T	5	14497085	14497085	C	T	TRIO	c.7978C>T	NM_007118.4	NP_009049.2:p.(Arg2660Trp)	NC_000005.9:g.14497085C>T	VUS	1 lab	6e80ae20f2
12:106857354 POLR3B G>A	12	106857354	106857354	G	A	POLR3B	c.2669G>A	NM_018082.6	NP_060552.4:p.(Arg890His)	NC_000012.11:g.106857354G>A	VUS	1 lab	6e80f13108
11:67888457 CHKA A>AGCGGCG	11	67888457	67888467	A	AGCGGCG	CHKA	c.182_187dup	NM_001277.3	NP_001268.2:p.(Pro61_Pro62dup)	NC_000011.9:g.67888462_67888467dup	VUS	1 lab	6e82336904
16:2138117 TSC2 C>T	16	2138117	2138117	C	T	TSC2	c.5137C>T	NM_000548.3	NP_000539.2:p.(Arg1713Cys)	NC_000016.9:g.2138117C>T	VUS	1 lab	23f1534170
12:133245001 POLE C>T	12	133245001	133245001	C	T	POLE	c.2114G>A	NM_006231.4	NP_006222.2:p.(Arg705Gln)	NC_000012.11:g.133245001C>T	VUS	1 lab	6e84652908
2:10192477 KLF11 G>A	2	10192477	10192477	G	A	KLF11	c.1382G>A	NM_003597.5	NP_003588.1:p.(Arg461Gln)	NC_000002.11:g.10192477G>A	(Likely) benign	1 lab	6e85203073
3:53839037 CACNA1D C>A	3	53839037	53839037	C	A	CACNA1D	c.5613C>A	NM_001128840.3	NP_001122312.1:p.(Tyr1871Ter)	NC_000003.11:g.53839037C>A	VUS	1 lab	6e86a8bf7a
20:21186163 KIZ G>GA	20	21186163	21186164	G	GA	KIZ	c.1387G>A	NM_018474.6	NP_060944.3:p.(Ala463Thr)	NC_000020.10:g.21186163_21186164insA	(Likely) benign	1 lab	6e882555f6
19:10789766 ILF3 C>T	19	10789766	10789766	C	T	ILF3	c.652-7C>T	NM_017620.3	NP_060090.2:p.?	NC_000019.9:g.10789766C>T	(Likely) benign	1 lab	6e8b2844e6
12:46246380 ARID2 A>G	12	46246380	46246380	A	G	ARID2	c.4474A>G	NM_152641.4	NP_689854.2:p.(Lys1492Glu)	NC_000012.11:g.46246380A>G	(Likely) benign	1 lab	6e8b627df6
1:225567848 DNAH14 G>GT	1	225567848	225567856	G	GT	DNAH14	c.12717-5dup	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225567856dup	(Likely) benign	1 lab	6e8bc62b69
2:170366296 KLHL41 C>T	2	170366296	170366296	C	T	KLHL41	c.8C>T	NM_006063.3	NP_006054.2:p.(Ser3Phe)	NC_000002.11:g.170366296C>T	(Likely) benign	1 lab	6e8c80f879
6:30893763 VARS2 C>T	6	30893763	30893763	C	T	VARS2	c.3068C>T	NM_020442.6	NP_065175.4:p.(Ala1023Val)	NC_000006.11:g.30893763C>T	VUS	1 lab	6e8dd4ed7f
15:91486259 UNC45A G>A	15	91486259	91486259	G	A	UNC45A	c.974G>A	NM_018671.5	NP_061141.2:p.(Arg325Gln)	NC_000015.9:g.91486259G>A	VUS	1 lab	6e8eb2067d
12:122257721 SETD1B A>G	12	122257721	122257721	A	G	SETD1B	c.3830A>G	NM_001353345.2	NP_001340274.1:p.(Glu1277Gly)	NC_000012.11:g.122257721A>G	(Likely) benign	1 lab	6e8ed265f7
20:18491531 SEC23B C>T	20	18491531	18491531	C	T	SEC23B	c.52C>T	NM_006363.6	NP_006354.2:p.(Arg18Cys)	NC_000020.10:g.18491531C>T	VUS	1 lab	6e90c9b82a
19:8650150 ADAMTS10 G>A	19	8650150	8650150	G	A	ADAMTS10	c.2908C>T	NM_030957.4	NP_112219.3:p.(Leu970Phe)	NC_000019.9:g.8650150G>A	VUS	1 lab	6e90d62629
17:71382051 SDK2 C>T	17	71382051	71382051	C	T	SDK2	c.4504G>A	NM_001144952.2	NP_001138424.1:p.(Asp1502Asn)	NC_000017.10:g.71382051C>T	VUS	1 lab	6e92a1c000
3:113804658 QTRT2 AC>A	3	113804658	113804659	AC	A	QTRT2	c.1156del	NM_024638.4	NP_078914.1:p.(His386ThrfsTer13)	NC_000003.11:g.113804659del	VUS	1 lab	6e942c04e7
16:51175661 SALL1 T>C	16	51175661	51175661	T	C	SALL1	c.472A>G	NM_002968.3	NP_002959.2:p.(Ser158Gly)	NC_000016.9:g.51175661T>C	VUS	1 lab	6e96217bb3
1:23382417 KDM1A G>T	1	23382417	23382417	G	T	KDM1A	c.884-8G>T	NM_001009999.3	NP_001009999.1:p.?	NC_000001.10:g.23382417G>T	(Likely) benign	1 lab	6e96ef0913
16:71884320 ATXN1L G>A	16	71884320	71884320	G	A	ATXN1L	c.677G>A	NM_001137675.4	NP_001131147.1:p.(Arg226Gln)	NC_000016.9:g.71884320G>A	(Likely) benign	1 lab	6e96f21899
11:44129644 EXT2 C>T	11	44129644	44129644	C	T	EXT2	c.382C>T	NM_207122.2	NP_997005.1:p.(Arg128Trp)	NC_000011.9:g.44129644C>T	(Likely) benign	1 lab	6e9a863e6a
3:4817013 ITPR1 A>G	3	4817013	4817013	A	G	ITPR1	c.6067A>G	NM_001378452.1	NP_001365381.1:p.(Thr2023Ala)	NC_000003.11:g.4817013A>G	VUS	1 lab	6e9b140aed
X:48054769 SSX5 C>T	X	48054769	48054769	C	T	SSX5	c.26G>A	NM_175723.2	NP_783729.1:p.(Arg9Gln)	NC_000023.10:g.48054769C>T	(Likely) benign	1 lab	6e9c925c4a
8:144895550 SCRIB G>A	8	144895550	144895550	G	A	SCRIB	c.504-6C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144895550G>A	(Likely) benign	1 lab	6e9ecd2f0d
6:50791444 TFAP2B G>C	6	50791444	50791444	G	C	TFAP2B	c.406G>C	NM_003221.4	NP_003212.2:p.(Asp136His)	NC_000006.11:g.50791444G>C	(Likely) benign	1 lab	6e9f8f19fc
1:228431997 OBSCN A>G	1	228431997	228431997	A	G	OBSCN	c.3482A>G	NM_001386125.1	NP_001373054.1:p.(Glu1161Gly)	NC_000001.10:g.228431997A>G	(Likely) benign	1 lab	6ea240928b
14:39722440 MIA2 C>A	14	39722440	39722440	C	A	MIA2	c.1887+65C>A	NM_001329214.4	NP_001316143.1:p.?	NC_000014.8:g.39722440C>A	(Likely) benign	1 lab	6ea6b87713
16:21080758 DNAH3 C>T	16	21080758	21080758	C	T	DNAH3	c.3221G>A	NM_001347886.2	NP_001334815.1:p.(Trp1074Ter)	NC_000016.9:g.21080758C>T	VUS	1 lab	6ea6ba4429
15:89382217 ACAN C>T	15	89382217	89382217	C	T	ACAN	c.394C>T	NM_001369268.1	NP_001356197.1:p.(Arg132Cys)	NC_000015.9:g.89382217C>T	VUS	1 lab	6ea6e2e312
2:152370908 NEB C>T	2	152370908	152370908	C	T	NEB	c.23051G>A	NM_001164508.2	NP_001157980.2:p.(Arg7684His)	NC_000002.11:g.152370908C>T	VUS	1 lab	6ea7b495a8
16:2814710 SRRM2 C>T	16	2814710	2814710	C	T	SRRM2	c.4181C>T	NM_016333.4	NP_057417.3:p.(Ala1394Val)	NC_000016.9:g.2814710C>T	(Likely) benign	1 lab	6ea813be42
11:64065722 KCNK4 G>A	11	64065722	64065722	G	A	KCNK4	c.801+1G>A	NM_033310.3	NP_201567.1:p.?	NC_000011.9:g.64065722G>A	VUS	1 lab	6ea8679ec2
1:22181337 HSPG2 G>A	1	22181337	22181337	G	A	HSPG2	c.6133+4C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22181337G>A	(Likely) benign	1 lab	6eabf20ea0
15:48764802 FBN1 G>A	15	48764802	48764802	G	A	FBN1	c.4282C>T	NM_000138.5	NP_000129.3:p.(Arg1428Cys)	NC_000015.9:g.48764802G>A	VUS	1 lab	6eac8a5a52
1:228407059 OBSCN G>T	1	228407059	228407059	G	T	OBSCN	c.2688G>T	NM_001386125.1	NP_001373054.1:p.(Ala896=)	NC_000001.10:g.228407059G>T	(Likely) benign	1 lab	6ead1e2b5b
2:233388533 PRSS56 C>T	2	233388533	233388533	C	T	PRSS56	c.1064C>T	NM_001195129.2	NP_001182058.1:p.(Pro355Leu)	NC_000002.11:g.233388533C>T	(Likely) benign	1 lab	6eadee70f6
16:89712374 CHMP1A A>C	16	89712374	89712374	A	C	CHMP1A	c.*100T>G	NM_002768.5	NP_002759.2:p.?	NC_000016.9:g.89712374A>C	(Likely) benign	1 lab	6eaef9215d
2:95816017 ZNF514 T>TAA	2	95816017	95816036	T	TAA	ZNF514	c.218-7_218-6dup	NM_032788.3	NP_116177.1:p.?	NC_000002.11:g.95816035_95816036dup	(Likely) benign	1 lab	6eb08387db
18:55328567 ATP8B1 C>T	18	55328567	55328567	C	T	ATP8B1	c.2546G>A	NM_001374385.1	NP_001361314.1:p.(Arg849Gln)	NC_000018.9:g.55328567C>T	VUS	1 lab	6eb2504055
12:49434855 KMT2D G>C	12	49434855	49434855	G	C	KMT2D	c.6698C>G	NM_003482.4	NP_003473.3:p.(Thr2233Ser)	NC_000012.11:g.49434855G>C	VUS	1 lab	6eb27f21a6
1:149897942 SF3B4 G>A	1	149897942	149897942	G	A	SF3B4	c.707-8C>T	NM_005850.5	NP_005841.1:p.?	NC_000001.10:g.149897942G>A	(Likely) benign	1 lab	6eb36a9461
3:41266549 CTNNB1 GCTGCTCATCCCACTAATGTCCAGC>G	3	41266549	41266573	GCTGCTCATCCCACTAATGTCCAGC	G	CTNNB1	c.347_370del	NM_001904.4	NP_001895.1:p.(Ala116_Arg124delinsGly)	NC_000003.11:g.41266550_41266573del	VUS	1 lab	6eb3afea43
11:125488370 STT3A T>C	11	125488370	125488370	T	C	STT3A	c.1877T>C	NM_152713.5	NP_689926.1:p.(Val626Ala)	NC_000011.9:g.125488370T>C	(Likely) pathogenic	1 lab	6eb3b55c49
21:46897755 COL18A1 C>G	21	46897755	46897755	C	G	COL18A1	c.1097C>G	NM_001379500.1	NP_001366429.1:p.(Pro366Arg)	NC_000021.8:g.46897755C>G	(Likely) benign	1 lab	6eb4d0c92e
17:3953068 ZZEF1 G>A	17	3953068	3953068	G	A	ZZEF1	c.5949C>T	NM_015113.4	NP_055928.3:p.(Thr1983=)	NC_000017.10:g.3953068G>A	(Likely) benign	1 lab	6eb4d68819
14:73730493 PAPLN G>GT	14	73730493	73730494	G	GT	PAPLN	c.2861+3_2861+4insT	NM_001365906.3	NP_001352835.1:p.?	NC_000014.8:g.73730493_73730494insT	VUS	1 lab	6eb71c697e
7:150695470 NOS3 C>A	7	150695470	150695470	C	A	NOS3	c.608C>A	NM_000603.5	NP_000594.2:p.(Ser203Tyr)	NC_000007.13:g.150695470C>A	VUS	1 lab	6ebc308214
6:47591941 CD2AP A>G	6	47591941	47591941	A	G	CD2AP	c.1898A>G	NM_012120.3	NP_036252.1:p.(Lys633Arg)	NC_000006.11:g.47591941A>G	(Likely) benign	1 lab	23f3b7b086
7:89909175 CFAP69 T>C	7	89909175	89909175	T	C	CFAP69	c.1340T>C	NM_001039706.3	NP_001034795.2:p.(Val447Ala)	NC_000007.13:g.89909175T>C	(Likely) benign	1 lab	6ebff246c1
1:152283475 FLG C>T	1	152283475	152283475	C	T	FLG	c.3887G>A	NM_002016.2	NP_002007.1:p.(Gly1296Glu)	NC_000001.10:g.152283475C>T	VUS	1 lab	6ec08f1bf5
17:61994684 GH1 G>A	17	61994684	61994684	G	A	GH1	c.639C>T	NM_000515.5	NP_000506.2:p.(Gly213=)	NC_000017.10:g.61994684G>A	(Likely) benign	1 lab	6ec111619d
1:24122667 GALE G>A	1	24122667	24122667	G	A	GALE	c.962C>T	NM_001008216.2	NP_001008217.1:p.(Thr321Ile)	NC_000001.10:g.24122667G>A	(Likely) benign	1 lab	6ec15010d8
X:591718 SHOX A>C	X	591718	591718	A	C	SHOX	c.86A>C	NM_000451.3	NP_000442.1:p.(Lys29Thr)	NC_000023.10:g.591718A>C	(Likely) benign	1 lab	6ec26f6b9b
2:33359852 LTBP1 G>T	2	33359852	33359852	G	T	LTBP1	c.1034-8G>T	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33359852G>T	(Likely) benign	1 lab	6ec2ff4eaa
12:49425809 KMT2D TGAG>T	12	49425809	49425815	TGAG	T	KMT2D	c.12676_12678del	NM_003482.4	NP_003473.3:p.(Leu4226del)	NC_000012.11:g.49425813_49425815del	VUS	1 lab	6ec6643307
16:624474 PIGQ C>T	16	624474	624474	C	T	PIGQ	c.400C>T	NM_004204.5	NP_004195.2:p.(Arg134Cys)	NC_000016.9:g.624474C>T	VUS	1 lab	6ec6e1d8e0
19:7707369 STXBP2 G>A	19	7707369	7707369	G	A	STXBP2	c.882G>A	NM_001272034.2	NP_001258963.1:p.(Glu294=)	NC_000019.9:g.7707369G>A	(Likely) benign	1 lab	23f3d514c5
13:77570302 CLN5 A>C	13	77570302	77570302	A	C	CLN5	c.712+40A>C	NM_006493.2	NP_006484.1:p.?	NC_000013.10:g.77570302A>C	(Likely) benign	1 lab	23f55c7efd
11:67164766 RAD9A G>GGC	11	67164766	67164767	G	GGC	RAD9A	c.989_990insGC	NM_004584.3	NP_004575.1:p.(Gln332ProfsTer66)	NC_000011.9:g.67164766_67164767insGC	(Likely) benign	1 lab	6ecb1ea965
15:89388983 ACAN G>C	15	89388983	89388983	G	C	ACAN	c.1299G>C	NM_001369268.1	NP_001356197.1:p.(Glu433Asp)	NC_000015.9:g.89388983G>C	VUS	1 lab	6eccff2345
20:43052875 HNF4A G>T	20	43052875	43052875	G	T	HNF4A	c.1110G>T	NM_000457.5	NP_000448.3:p.(Leu370Phe)	NC_000020.10:g.43052875G>T	VUS	1 lab	6ecd4edbb4
2:238258791 COL6A3 G>A	2	238258791	238258791	G	A	COL6A3	c.6878C>T	NM_004369.4	NP_004360.2:p.(Thr2293Met)	NC_000002.11:g.238258791G>A	VUS	1 lab	6ed171251b
7:70255096 AUTS2 G>C	7	70255096	70255096	G	C	AUTS2	c.2894G>C	NM_015570.4	NP_056385.1:p.(Arg965Pro)	NC_000007.13:g.70255096G>C	VUS	1 lab	6ed1dce71a
1:20982196 DDOST G>C	1	20982196	20982196	G	C	DDOST	c.429C>G	NM_005216.5	NP_005207.3:p.(His143Gln)	NC_000001.10:g.20982196G>C	VUS	1 lab	6ed1eecc46
3:47889748 DHX30 G>A	3	47889748	47889748	G	A	DHX30	c.2365G>A	NM_138615.3	NP_619520.1:p.(Gly789Ser)	NC_000003.11:g.47889748G>A	(Likely) benign	1 lab	6ed30c5a2c
11:6867035 OR10A5 A>T	11	6867035	6867035	A	T	OR10A5	c.122A>T	NM_178168.1	NP_835462.1:p.(Lys41Met)	NC_000011.9:g.6867035A>T	(Likely) benign	1 lab	6ed3be9f84
4:95377444 PDLIM5 A>G	4	95377444	95377444	A	G	PDLIM5	c.96+909A>G	NM_006457.5	NP_006448.5:p.?	NC_000004.11:g.95377444A>G	(Likely) benign	1 lab	6ed3eaf9ef
16:70697878 MTSS2 G>C	16	70697878	70697878	G	C	MTSS2	c.1946C>G	NM_138383.3	NP_612392.1:p.(Ser649Cys)	NC_000016.9:g.70697878G>C	(Likely) benign	1 lab	6ed57dd96f
7:31014069 GHRHR G>A	7	31014069	31014069	G	A	GHRHR	c.777G>A	NM_000823.4	NP_000814.2:p.(Thr259=)	NC_000007.13:g.31014069G>A	(Likely) benign	1 lab	6ed638c122
11:14504569 COPB1 AAC>A	11	14504569	14504573	AAC	A	COPB1	c.957+7_957+8del	NM_001144061.2	NP_001137533.1:p.?	NC_000011.9:g.14504572_14504573del	VUS	1 lab	6ed6f7ea5e
16:4390397 PAM16 C>G	16	4390397	4390397	C	G	PAM16	c.301G>C	NM_016069.11	NP_057153.8:p.(Ala101Pro)	NC_000016.9:g.4390397C>G	VUS	1 lab	6edf0421e4
1:40781318 COL9A2 G>A	1	40781318	40781318	G	A	COL9A2	c.94C>T	NM_001852.4	NP_001843.1:p.(Arg32Trp)	NC_000001.10:g.40781318G>A	VUS	1 lab	6edf854306
18:48604664 SMAD4 C>T	18	48604664	48604664	C	T	SMAD4	c.1486C>T	NM_005359.6	NP_005350.1:p.(Arg496Cys)	NC_000018.9:g.48604664C>T	(Likely) pathogenic	1 lab	6ed4c7d9a5
15:89390476 ACAN G>T	15	89390476	89390476	G	T	ACAN	c.1432G>T	NM_001369268.1	NP_001356197.1:p.(Val478Phe)	NC_000015.9:g.89390476G>T	(Likely) benign	1 lab	6edf91fa5b
17:70119955 SOX9 C>CGGCAT	17	70119955	70119960	C	CGGCAT	SOX9	c.958_962dup	NM_000346.4	NP_000337.1:p.(Ile321MetfsTer64)	NC_000017.10:g.70119956_70119960dup	(Likely) pathogenic	1 lab	6ee0252fa2
15:91422893 FURIN C>T	15	91422893	91422893	C	T	FURIN	c.1155-8C>T	NM_002569.4	NP_002560.1:p.?	NC_000015.9:g.91422893C>T	(Likely) benign	1 lab	6ee073591b
5:140223058 PCDHA1 T>C	5	140223058	140223058	T	C	PCDHA1	c.2394+54789T>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140223058T>C	VUS	1 lab	6ee191681f
17:1387450 MYO1C G>T	17	1387450	1387450	G	T	MYO1C	c.223C>A	NM_001080779.2	NP_001074248.1:p.(Leu75Ile)	NC_000017.10:g.1387450G>T	VUS	1 lab	6ee2bd78ab
14:73989522 HEATR4 C>T	14	73989522	73989522	C	T	HEATR4	c.335G>A	NM_001220484.1	NP_001207413.1:p.(Arg112Gln)	NC_000014.8:g.73989522C>T	(Likely) benign	1 lab	6ee3dca39a
12:109924385 UBE3B C>CAAAAAAAAAA	12	109924385	109924408	C	CAAAAAAAAAA	UBE3B	c.447+19_447+28dup	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924399_109924408dup	(Likely) benign	1 lab	6ee52c2830
7:77762312 MAGI2 G>GGGGACTCTGCTGCGCCAT	7	77762312	77762341	G	GGGGACTCTGCTGCGCCAT	MAGI2	c.3079_3096dup	NM_012301.4	NP_036433.2:p.(Met1027_Pro1032dup)	NC_000007.13:g.77762324_77762341dup	VUS	1 lab	6ee5ead057
5:140779777 PCDHGB4 A>C	5	140779777	140779777	A	C	PCDHGB4	c.2397+9929A>C	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140779777A>C	(Likely) benign	1 lab	6ee67cf905
13:23929778 SACS C>T	13	23929778	23929778	C	T	SACS	c.973G>A	NM_014363.6	NP_055178.3:p.(Gly325Arg)	NC_000013.10:g.23929778C>T	VUS	1 lab	6ee8b41181
1:20987764 DDOST C>G	1	20987764	20987764	C	G	DDOST	c.80G>C	NM_005216.5	NP_005207.3:p.(Gly27Ala)	NC_000001.10:g.20987764C>G	VUS	1 lab	6ee9f3ce62
20:61468587 COL9A3 A>C	20	61468587	61468587	A	C	COL9A3	c.1756A>C	NM_001853.4	NP_001844.3:p.(Thr586Pro)	NC_000020.10:g.61468587A>C	VUS	1 lab	6eeb5ab1fc
12:122372260 CFAP251 A>G	12	122372260	122372260	A	G	CFAP251	c.996A>G	NM_144668.6	NP_653269.3:p.(Thr332=)	NC_000012.11:g.122372260A>G	(Likely) benign	1 lab	6eebb2e1b2
8:145657716 TONSL G>A	8	145657716	145657716	G	A	TONSL	c.3687C>T	NM_013432.5	NP_038460.4:p.(Gly1229=)	NC_000008.10:g.145657716G>A	VUS	1 lab	6eebe3310e
8:70476308 SULF1 G>A	8	70476308	70476308	G	A	SULF1	c.98G>A	NM_001128205.2	NP_001121677.1:p.(Arg33Gln)	NC_000008.10:g.70476308G>A	VUS	1 lab	6eec05fa38
7:80374454 SEMA3C G>A	7	80374454	80374454	G	A	SEMA3C	c.2012C>T	NM_006379.5	NP_006370.1:p.(Thr671Met)	NC_000007.13:g.80374454G>A	(Likely) benign	1 lab	6eed15041b
19:6496128 TUBB4A C>T	19	6496128	6496128	C	T	TUBB4A	c.382G>A	NM_006087.4	NP_006078.2:p.(Asp128Asn)	NC_000019.9:g.6496128C>T	VUS	1 lab	6eedd9547f
12:48381090 COL2A1 G>A	12	48381090	48381090	G	A	COL2A1	c.1228C>T	NM_001844.5	NP_001835.3:p.(Pro410Ser)	NC_000012.11:g.48381090G>A	VUS	1 lab	6ef028aab6
6:100868731 SIM1 T>C	6	100868731	100868731	T	C	SIM1	c.1102A>G	NM_005068.3	NP_005059.2:p.(Arg368Gly)	NC_000006.11:g.100868731T>C	(Likely) benign	1 lab	6ef12f8230
2:238243408 COL6A3 C>T	2	238243408	238243408	C	T	COL6A3	c.9090G>A	NM_004369.4	NP_004360.2:p.(Gln3030=)	NC_000002.11:g.238243408C>T	(Likely) benign	1 lab	6ef2e9d578
4:79373353 FRAS1 C>T	4	79373353	79373353	C	T	FRAS1	c.6608C>T	NM_025074.7	NP_079350.5:p.(Thr2203Ile)	NC_000004.11:g.79373353C>T	(Likely) benign	1 lab	6ef37d9c40
16:732400 JMJD8 C>G	16	732400	732400	C	G	JMJD8	c.*394G>C	NM_001005920.4	NP_001005920.3:p.?	NC_000016.9:g.732400C>G	(Likely) pathogenic	1 lab	6ef57fbdfe
2:54872590 SPTBN1 C>T	2	54872590	54872590	C	T	SPTBN1	c.4494C>T	NM_003128.3	NP_003119.2:p.(Ile1498=)	NC_000002.11:g.54872590C>T	VUS	1 lab	2294c3fd64
5:176639175 NSD1 C>T	5	176639175	176639175	C	T	NSD1	c.3775C>T	NM_022455.5	NP_071900.2:p.(Gln1259Ter)	NC_000005.9:g.176639175C>T	(Likely) pathogenic	1 lab	6ef651ef55
1:39853641 MACF1 G>T	1	39853641	39853641	G	T	MACF1	c.15127G>T	NM_001394062.1	NP_001380991.1:p.(Ala5043Ser)	NC_000001.10:g.39853641G>T	(Likely) benign	1 lab	6ef6dc0e8a
3:37035129 MLH1 G>T	3	37035129	37035129	G	T	MLH1	c.91G>T	NM_000249.4	NP_000240.1:p.(Ala31Ser)	NC_000003.11:g.37035129G>T	VUS	1 lab	2297702aa2
1:242021810 EXO1 A>G	1	242021810	242021810	A	G	EXO1	c.546A>G	NM_130398.4	NP_569082.2:p.(Val182=)	NC_000001.10:g.242021810A>G	(Likely) benign	1 lab	6efa02a997
1:197403970 CRB1 G>A	1	197403970	197403970	G	A	CRB1	c.2977G>A	NM_201253.3	NP_957705.1:p.(Glu993Lys)	NC_000001.10:g.197403970G>A	VUS	1 lab	6efaac6505
12:23689598 SOX5 G>A	12	23689598	23689598	G	A	SOX5	c.1777C>T	NM_006940.6	NP_008871.3:p.(Arg593Cys)	NC_000012.11:g.23689598G>A	(Likely) pathogenic	1 lab	6efb20f745
19:39229227 CAPN12 G>A	19	39229227	39229227	G	A	CAPN12	c.791C>T	NM_144691.4	NP_653292.2:p.(Thr264Met)	NC_000019.9:g.39229227G>A	VUS	1 lab	229b19fc73
3:81692140 GBE1 G>A	3	81692140	81692140	G	A	GBE1	c.784C>T	NM_000158.4	NP_000149.4:p.(Arg262Cys)	NC_000003.11:g.81692140G>A	VUS	1 lab	6efc79a99c
1:222744000 TAF1A A>ATCCT	1	222744000	222744005	A	ATCCT	TAF1A	c.608_611dup	NM_005681.4	NP_005672.1:p.(Asp204GlufsTer3)	NC_000001.10:g.222744002_222744005dup	VUS	1 lab	6effc343fe
3:193374949 OPA1 TA>T	3	193374949	193374952	TA	T	OPA1	c.2262del	NM_130837.3	NP_570850.2:p.(Lys754AsnfsTer24)	NC_000003.11:g.193374952del	(Likely) pathogenic	1 lab	6f01d75ded
19:42753014 ERF G>A	19	42753014	42753014	G	A	ERF	c.1250C>T	NM_006494.4	NP_006485.2:p.(Ala417Val)	NC_000019.9:g.42753014G>A	(Likely) benign	1 lab	6f02d568b1
9:69423875 MISSING C>T	9	69423875	69423875	C	T	MISSING				NC_000009.11:g.69423875C>T	(Likely) benign	1 lab	6f0314d6ad
8:55542741 RP1 T>C	8	55542741	55542741	T	C	RP1	c.6299T>C	NM_006269.2	NP_006260.1:p.(Leu2100Pro)	NC_000008.10:g.55542741T>C	VUS	1 lab	6f050246b2
X:152159254 PNMA5 C>T	X	152159254	152159254	C	T	PNMA5	c.889G>A	NM_001184924.2	NP_001171853.1:p.(Ala297Thr)	NC_000023.10:g.152159254C>T	(Likely) benign	1 lab	6f065af8d3
19:15302252 NOTCH3 C>A	19	15302252	15302252	C	A	NOTCH3	c.1019G>T	NM_000435.3	NP_000426.2:p.(Cys340Phe)	NC_000019.9:g.15302252C>A	(Likely) pathogenic	1 lab	6f06d4572e
16:23387190 SCNN1B C>T	16	23387190	23387190	C	T	SCNN1B	c.1270+14C>T	NM_000336.3	NP_000327.2:p.?	NC_000016.9:g.23387190C>T	(Likely) benign	1 lab	23fa53785d
2:170115706 LRP2 T>C	2	170115706	170115706	T	C	LRP2	c.2342A>G	NM_004525.3	NP_004516.2:p.(Asn781Ser)	NC_000002.11:g.170115706T>C	(Likely) benign	1 lab	6f08061b4e
16:51174410 SALL1 G>A	16	51174410	51174410	G	A	SALL1	c.1723C>T	NM_002968.3	NP_002959.2:p.(Pro575Ser)	NC_000016.9:g.51174410G>A	VUS	1 lab	6f08dec2d9
3:45557735 LARS2 C>T	3	45557735	45557735	C	T	LARS2	c.2011C>T	NM_015340.4	NP_056155.1:p.(Pro671Ser)	NC_000003.11:g.45557735C>T	VUS	1 lab	6f0bef584f
X:77388914 TAF9B T>C	X	77388914	77388914	T	C	TAF9B	c.513A>G	NM_015975.5	NP_057059.2:p.(Lys171=)	NC_000023.10:g.77388914T>C	(Likely) benign	1 lab	6f0c8c49db
X:100745836 ARMCX4 G>A	X	100745836	100745836	G	A	ARMCX4	c.2260G>A	NM_001256155.3	NP_001243084.2:p.(Ala754Thr)	NC_000023.10:g.100745836G>A	VUS	1 lab	6f0d1414b9
17:44110777 KANSL1 TCTC>T	17	44110777	44110783	TCTC	T	KANSL1	c.2713_2715del	NM_015443.4	NP_056258.1:p.(Glu905del)	NC_000017.10:g.44110781_44110783del	(Likely) benign	1 lab	6f0ec089fd
17:42818791 DBF4B G>A	17	42818791	42818791	G	A	DBF4B	c.801G>A	NM_145663.3	NP_663696.1:p.(Pro267=)	NC_000017.10:g.42818791G>A	VUS	1 lab	6f0f1366ba
16:2815970 SRRM2 G>A	16	2815970	2815970	G	A	SRRM2	c.5441G>A	NM_016333.4	NP_057417.3:p.(Arg1814Gln)	NC_000016.9:g.2815970G>A	(Likely) benign	1 lab	6f0f13ea4d
12:96388590 HAL G>A	12	96388590	96388590	G	A	HAL	c.322C>T	NM_002108.4	NP_002099.1:p.(Arg108Trp)	NC_000012.11:g.96388590G>A	VUS	1 lab	6f0ffbecb0
12:65637248 LEMD3 A>G	12	65637248	65637248	A	G	LEMD3	c.2386A>G	NM_014319.5	NP_055134.2:p.(Met796Val)	NC_000012.11:g.65637248A>G	(Likely) benign	1 lab	6f14af3fa2
12:57860014 GLI1 C>A	12	57860014	57860014	C	A	GLI1	c.763-9C>A	NM_005269.3	NP_005260.1:p.?	NC_000012.11:g.57860014C>A	VUS	1 lab	6f16034718
7:129098125 STRIP2 G>A	7	129098125	129098125	G	A	STRIP2	c.1108G>A	NM_020704.3	NP_065755.1:p.(Ala370Thr)	NC_000007.13:g.129098125G>A	(Likely) benign	1 lab	6f16cc3c3a
9:35799636 NPR2 C>T	9	35799636	35799636	C	T	NPR2	c.895C>T	NM_003995.4	NP_003986.2:p.(Arg299Ter)	NC_000009.11:g.35799636C>T	(Likely) pathogenic	1 lab	6f16d10f2c
2:130912005 SMPD4 G>A	2	130912005	130912005	G	A	SMPD4	c.1504C>T	NM_017951.5	NP_060421.3:p.(Arg502Ter)	NC_000002.11:g.130912005G>A	VUS	1 lab	6f178140a4
3:126226878 UROC1 T>C	3	126226878	126226878	T	C	UROC1	c.472A>G	NM_144639.3	NP_653240.1:p.(Ser158Gly)	NC_000003.11:g.126226878T>C	VUS	1 lab	6f1941f5c8
1:144864240 PDE4DIP T>C	1	144864240	144864240	T	C	PDE4DIP	c.6053A>G	NM_001395426.1	NP_001382355.1:p.(His2018Arg)	NC_000001.10:g.144864240T>C	VUS	1 lab	6f19774261
16:2224297 TRAF7 G>A	16	2224297	2224297	G	A	TRAF7	c.1309G>A	NM_032271.3	NP_115647.2:p.(Gly437Ser)	NC_000016.9:g.2224297G>A	(Likely) benign	1 lab	6f1b54daf0
1:235920742 LYST A>C	1	235920742	235920742	A	C	LYST	c.6898T>G	NM_000081.4	NP_000072.2:p.(Leu2300Val)	NC_000001.10:g.235920742A>C	(Likely) benign	1 lab	6f1d177d10
15:89401379 ACAN C>T	15	89401379	89401379	C	T	ACAN	c.5563C>T	NM_001369268.1	NP_001356197.1:p.(Leu1855Phe)	NC_000015.9:g.89401379C>T	(Likely) benign	1 lab	6f1d898423
6:12124740 HIVEP1 C>T	6	12124740	12124740	C	T	HIVEP1	c.4712C>T	NM_002114.4	NP_002105.3:p.(Pro1571Leu)	NC_000006.11:g.12124740C>T	VUS	1 lab	6f1daee481
16:2160829 PKD1 CG>C	16	2160829	2160831	CG	C	PKD1	c.4338del	NM_001009944.3	NP_001009944.3:p.(Ala1447ArgfsTer87)	NC_000016.9:g.2160831del	(Likely) pathogenic	1 lab	6f1f952e85
7:48407452 ABCA13 G>A	7	48407452	48407452	G	A	ABCA13	c.10750G>A	NM_152701.5	NP_689914.3:p.(Val3584Met)	NC_000007.13:g.48407452G>A	VUS	1 lab	6f1fc1ac55
20:2384129 TGM6 C>T	20	2384129	2384129	C	T	TGM6	c.1076C>T	NM_198994.3	NP_945345.2:p.(Pro359Leu)	NC_000020.10:g.2384129C>T	(Likely) benign	1 lab	6f202d6a39
14:77492059 IRF2BPL C>T	14	77492059	77492059	C	T	IRF2BPL	c.2077G>A	NM_024496.4	NP_078772.1:p.(Gly693Ser)	NC_000014.8:g.77492059C>T	(Likely) benign	1 lab	6f20360de3
4:102014919 PPP3CA T>G	4	102014919	102014919	T	G	PPP3CA	c.782+14A>C	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102014919T>G	(Likely) benign	1 lab	23fb0e7b54
15:51291261 AP4E1 A>G	15	51291261	51291261	A	G	AP4E1	c.2905-8A>G	NM_007347.5	NP_031373.2:p.?	NC_000015.9:g.51291261A>G	(Likely) benign	1 lab	6f23247b57
19:15366998 BRD4 T>C	19	15366998	15366998	T	C	BRD4	c.1628A>G	NM_058243.3	NP_490597.1:p.(Lys543Arg)	NC_000019.9:g.15366998T>C	VUS	1 lab	22a32902bf
7:44185114 GCK A>G	7	44185114	44185114	A	G	GCK	c.1235T>C	NM_000162.5	NP_000153.1:p.(Val412Ala)	NC_000007.13:g.44185114A>G	(Likely) pathogenic	1 lab	6f23db9600
12:66219105 HMGA2 C>T	12	66219105	66219105	C	T	HMGA2	c.55C>T	NM_003483.6	NP_003474.1:p.(Pro19Ser)	NC_000012.11:g.66219105C>T	VUS	1 lab	6f26324937
15:64067563 HERC1 A>T	15	64067563	64067563	A	T	HERC1	c.260T>A	NM_003922.4	NP_003913.3:p.(Leu87Gln)	NC_000015.9:g.64067563A>T	VUS	1 lab	6f27b746b8
2:216244039 FN1 A>G	2	216244039	216244039	A	G	FN1	c.5436T>C	NM_212482.4	NP_997647.2:p.(Ala1812=)	NC_000002.11:g.216244039A>G	VUS	1 lab	6f2dbb11ae
17:65871819 BPTF C>A	17	65871819	65871819	C	A	BPTF	c.1864+683C>A	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65871819C>A	(Likely) benign	1 lab	6f2dc352d4
1:150239554 APH1A A>T	1	150239554	150239554	A	T	APH1A	c.530T>A	NM_001077628.3	NP_001071096.1:p.(Val177Glu)	NC_000001.10:g.150239554A>T	VUS	1 lab	6f2ea08406
17:65900053 BPTF C>G	17	65900053	65900053	C	G	BPTF	c.2673+19C>G	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65900053C>G	(Likely) benign	1 lab	6f30878ebf
22:21153574 PI4KA G>A	22	21153574	21153574	G	A	PI4KA	c.1821-10C>T	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21153574G>A	(Likely) benign	1 lab	6f3098a20a
X:151821274 GABRQ ATTT>A	X	151821274	151821279	ATTT	A	GABRQ	c.1432_1434del	NM_018558.4	NP_061028.3:p.(Ile478del)	NC_000023.10:g.151821277_151821279del	(Likely) benign	1 lab	6f3136ba0f
12:98927398 TMPO G>A	12	98927398	98927398	G	A	TMPO	c.1363G>A	NM_003276.2	NP_003267.1:p.(Glu455Lys)	NC_000012.11:g.98927398G>A	(Likely) benign	1 lab	23fb439361
11:17803237 KCNC1 G>A	11	17803237	17803237	G	A	KCNC1	c.1714G>A	NM_001112741.2	NP_001106212.1:p.(Val572Ile)	NC_000011.9:g.17803237G>A	VUS	1 lab	6f33cb0a95
7:97870193 TECPR1 G>A	7	97870193	97870193	G	A	TECPR1	c.903C>T	NM_015395.3	NP_056210.1:p.(Ser301=)	NC_000007.13:g.97870193G>A	VUS	1 lab	6f344158dd
1:2160523 SKI A>T	1	2160523	2160523	A	T	SKI	c.318A>T	NM_003036.4	NP_003027.1:p.(Glu106Asp)	NC_000001.10:g.2160523A>T	VUS	1 lab	6f35edec1b
16:88873770 CDT1 C>T	16	88873770	88873770	C	T	CDT1	c.1357C>T	NM_030928.4	NP_112190.2:p.(Arg453Trp)	NC_000016.9:g.88873770C>T	(Likely) benign	1 lab	6f37036077
2:160086640 TANC1 G>T	2	160086640	160086640	G	T	TANC1	c.4703G>T	NM_033394.3	NP_203752.2:p.(Gly1568Val)	NC_000002.11:g.160086640G>T	VUS	1 lab	6f37a53f1e
11:71195477 NADSYN1 C>T	11	71195477	71195477	C	T	NADSYN1	c.1439C>T	NM_018161.5	NP_060631.2:p.(Ala480Val)	NC_000011.9:g.71195477C>T	VUS	1 lab	6f385bed37
16:30721292 SRCAP G>A	16	30721292	30721292	G	A	SRCAP	c.977G>A	NM_006662.3	NP_006653.2:p.(Arg326His)	NC_000016.9:g.30721292G>A	(Likely) benign	1 lab	6f3980f72b
2:105472687 POU3F3 C>CCGGCGG	2	105472687	105472707	C	CCGGCGG	POU3F3	c.734_739dup	NM_006236.3	NP_006227.1:p.(Gly245_Gly246dup)	NC_000002.11:g.105472702_105472707dup	VUS	1 lab	6f39bdde18
17:43922357 SPPL2C G>A	17	43922357	43922357	G	A	SPPL2C	c.85G>A	NM_175882.3	NP_787078.2:p.(Val29Met)	NC_000017.10:g.43922357G>A	VUS	1 lab	6f3aa59643
15:89386574 ACAN TGTCCTTCACA>T	15	89386574	89386585	TGTCCTTCACA	T	ACAN	c.758-10_758-1del	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386576_89386585del	VUS	1 lab	6f4093bb8e
14:92471229 TRIP11 C>T	14	92471229	92471229	C	T	TRIP11	c.3091G>A	NM_004239.4	NP_004230.2:p.(Glu1031Lys)	NC_000014.8:g.92471229C>T	VUS	1 lab	6f4200406d
9:130242262 LRSAM1 G>T	9	130242262	130242262	G	T	LRSAM1	c.1043+5G>T	NM_001005373.4	NP_001005373.1:p.?	NC_000009.11:g.130242262G>T	VUS	1 lab	6f4208c4fa
X:595405 SHOX C>G	X	595405	595405	C	G	SHOX	c.330C>G	NM_000451.3	NP_000442.1:p.(Asp110Glu)	NC_000023.10:g.595405C>G	VUS	1 lab	6f42c26e3d
19:11130285 SMARCA4 C>T	19	11130285	11130285	C	T	SMARCA4	c.2524C>T	NM_003072.5	NP_003063.2:p.(Arg842Trp)	NC_000019.9:g.11130285C>T	VUS	1 lab	6f44bc3e6d
6:36685040 RAB44 C>A	6	36685040	36685040	C	A	RAB44	c.495-10C>A	NM_001257357.2	NP_001244286.1:p.?	NC_000006.11:g.36685040C>A	(Likely) benign	1 lab	6f45057bd0
16:86575757 MTHFSD C>T	16	86575757	86575757	C	T	MTHFSD	c.505G>A	NM_001159377.2	NP_001152849.1:p.(Gly169Ser)	NC_000016.9:g.86575757C>T	VUS	1 lab	6f4551200f
11:6643573 DCHS1 G>T	11	6643573	6643573	G	T	DCHS1	c.9334C>A	NM_003737.4	NP_003728.1:p.(Pro3112Thr)	NC_000011.9:g.6643573G>T	VUS	1 lab	6f45d929c8
5:37183696 CPLANE1 C>T	5	37183696	37183696	C	T	CPLANE1	c.4587G>A	NM_001384732.1	NP_001371661.1:p.(Lys1529=)	NC_000005.9:g.37183696C>T	(Likely) benign	1 lab	6f48984952
12:52910552 KRT5 C>G	12	52910552	52910552	C	G	KRT5	c.1308G>C	NM_000424.4	NP_000415.2:p.(Glu436Asp)	NC_000012.11:g.52910552C>G	VUS	1 lab	6f4a066715
6:26189191 H4C4 C>T	6	26189191	26189191	C	T	H4C4	c.114G>A	NM_003539.4	NP_003530.1:p.(Leu38=)	NC_000006.11:g.26189191C>T	VUS	1 lab	6f4a273dad
9:98211342 PTCH1 G>A	9	98211342	98211342	G	A	PTCH1	c.3804+9C>T	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98211342G>A	(Likely) benign	1 lab	6f4a70045f
16:11035786 DEXI G>GGCA	16	11035786	11035794	G	GGCA	DEXI	c.74_76dup	NM_014015.4	NP_054734.2:p.(Leu25dup)	NC_000016.9:g.11035792_11035794dup	VUS	1 lab	6f4b4b68fe
19:36210874 KMT2B C>T	19	36210874	36210874	C	T	KMT2B	c.625C>T	NM_014727.3	NP_055542.1:p.(Arg209Trp)	NC_000019.9:g.36210874C>T	(Likely) benign	1 lab	6f4d747f42
10:112362764 SMC3 C>G	10	112362764	112362764	C	G	SMC3	c.3475+4C>G	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112362764C>G	(Likely) benign	1 lab	6f4e8c3dd0
15:89398718 ACAN T>C	15	89398718	89398718	T	C	ACAN	c.2902T>C	NM_001369268.1	NP_001356197.1:p.(Ser968Pro)	NC_000015.9:g.89398718T>C	VUS	1 lab	6f4f14c299
4:90816203 MMRN1 G>T	4	90816203	90816203	G	T	MMRN1	c.81G>T	NM_007351.3	NP_031377.2:p.(Trp27Cys)	NC_000004.11:g.90816203G>T	VUS	1 lab	6f4f2dc09e
1:201832599 IPO9 G>T	1	201832599	201832599	G	T	IPO9	c.1492G>T	NM_018085.5	NP_060555.2:p.(Ala498Ser)	NC_000001.10:g.201832599G>T	(Likely) benign	1 lab	6f4f5eb07f
22:21066973 PI4KA G>C	22	21066973	21066973	G	C	PI4KA	c.5676+8C>G	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21066973G>C	(Likely) benign	1 lab	6f4f822a2e
2:5833586 SOX11 G>C	2	5833586	5833586	G	C	SOX11	c.733G>C	NM_003108.4	NP_003099.1:p.(Glu245Gln)	NC_000002.11:g.5833586G>C	(Likely) benign	1 lab	6f4fbb3fbe
X:9864143 SHROOM2 T>A	X	9864143	9864143	T	A	SHROOM2	c.2195T>A	NM_001649.4	NP_001640.1:p.(Leu732Gln)	NC_000023.10:g.9864143T>A	(Likely) benign	1 lab	6f51621c10
19:12985499 MAST1 C>T	19	12985499	12985499	C	T	MAST1	c.4528C>T	NM_014975.3	NP_055790.1:p.(Pro1510Ser)	NC_000019.9:g.12985499C>T	(Likely) benign	1 lab	6f520bc188
11:65384759 PCNX3 G>C	11	65384759	65384759	G	C	PCNX3	c.380G>C	NM_032223.4	NP_115599.2:p.(Ser127Thr)	NC_000011.9:g.65384759G>C	(Likely) benign	1 lab	6f5259ffd6
10:87615854 GRID1 G>T	10	87615854	87615854	G	T	GRID1	c.1045C>A	NM_017551.3	NP_060021.1:p.(Leu349Ile)	NC_000010.10:g.87615854G>T	VUS	1 lab	6f5305d562
11:9595628 WEE1 G>C	11	9595628	9595628	G	C	WEE1	c.148G>C	NM_003390.4	NP_003381.1:p.(Gly50Arg)	NC_000011.9:g.9595628G>C	VUS	1 lab	6f533edb43
20:52786120 CYP24A1 C>T	20	52786120	52786120	C	T	CYP24A1	c.640+11G>A	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52786120C>T	(Likely) benign	1 lab	23fd7dfb7f
10:71685557 COL13A1 C>T	10	71685557	71685557	C	T	COL13A1	c.1330-3C>T	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71685557C>T	(Likely) benign	1 lab	6f54426674
7:65426051 GUSB C>A	7	65426051	65426051	C	A	GUSB	c.1790-1G>T	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426051C>A	(Likely) benign	1 lab	6f551986ac
9:95015733 IARS1 A>T	9	95015733	95015733	A	T	IARS1	c.2140T>A	NM_002161.6	NP_002152.2:p.(Tyr714Asn)	NC_000009.11:g.95015733A>T	VUS	1 lab	6f56bd19ad
14:70420236 SMOC1 G>A	14	70420236	70420236	G	A	SMOC1	c.365G>A	NM_001034852.3	NP_001030024.1:p.(Gly122Asp)	NC_000014.8:g.70420236G>A	VUS	1 lab	6f582dabc8
4:6303643 WFS1 C>T	4	6303643	6303643	C	T	WFS1	c.2121C>T	NM_006005.3	NP_005996.2:p.(Val707=)	NC_000004.11:g.6303643C>T	VUS	1 lab	6f59b4daa3
16:57688049 ADGRG1 A>C	16	57688049	57688049	A	C	ADGRG1	c.768+4A>C	NM_201525.4	NP_958933.1:p.?	NC_000016.9:g.57688049A>C	VUS	1 lab	6f5b0e65b1
7:20449529 ITGB8 GA>G	7	20449529	20449530	GA	G	ITGB8	c.2220del	NM_002214.3	NP_002205.1:p.(Ala741GlnfsTer12)	NC_000007.13:g.20449530del	VUS	1 lab	6f5cc02f2a
X:153039176 PLXNB3 C>T	X	153039176	153039176	C	T	PLXNB3	c.3279+8C>T	NM_005393.3	NP_005384.2:p.?	NC_000023.10:g.153039176C>T	(Likely) benign	1 lab	6f5d797790
1:156108886 LMNA A>G	1	156108886	156108886	A	G	LMNA	c.1984A>G	NM_170707.4	NP_733821.1:p.(Ser662Gly)	NC_000001.10:g.156108886A>G	(Likely) benign	1 lab	6f5de151b9
X:134948023 CT45A9 T>C	X	134948023	134948023	T	C	CT45A9	c.302=	NM_001291540.2	NP_001278469.1:p.(Ser101=)	NC_000023.10:g.134948023T>C	VUS	1 lab	6f5e89f4a1
17:27807073 TAOK1 A>G	17	27807073	27807073	A	G	TAOK1	c.450-313A>G	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27807073A>G	(Likely) benign	1 lab	6f5f9d8107
10:124221619 HTRA1 C>A	10	124221619	124221619	C	A	HTRA1	c.451C>A	NM_002775.5	NP_002766.1:p.(Gln151Lys)	NC_000010.10:g.124221619C>A	VUS	1 lab	6f5fbceab2
4:186515050 SORBS2 C>G	4	186515050	186515050	C	G	SORBS2	c.3724G>C	NM_001395207.1	NP_001382136.1:p.(Gly1242Arg)	NC_000004.11:g.186515050C>G	VUS	1 lab	6f5fd124e8
8:145738700 RECQL4 A>C	8	145738700	145738700	A	C	RECQL4	c.2364T>G	NM_004260.4	NP_004251.4:p.(His788Gln)	NC_000008.10:g.145738700A>C	VUS	1 lab	6f60fe7421
4:155530867 FGG A>G	4	155530867	155530867	A	G	FGG	c.581T>C	NM_021870.3	NP_068656.2:p.(Phe194Ser)	NC_000004.11:g.155530867A>G	VUS	1 lab	6f6101d144
9:129458722 LMX1B G>A	9	129458722	129458722	G	A	LMX1B	c.1180G>A	NM_002316.4	NP_002307.2:p.(Ala394Thr)	NC_000009.11:g.129458722G>A	(Likely) benign	1 lab	23ffe68cde
13:32913691 BRCA2 C>CG	13	32913691	32913692	C	CG	BRCA2	c.5200dup	NM_000059.4	NP_000050.3:p.(Glu1734GlyfsTer9)	NC_000013.10:g.32913692dup	(Likely) pathogenic	1 lab	6f61e9e604
2:87184950 RGPD1 G>T	2	87184950	87184950	G	T	RGPD1	c.524G>T	NM_001382344.1	NP_001369273.1:p.(Arg175Leu)	NC_000002.11:g.87184950G>T	(Likely) benign	1 lab	6f62c6f56c
1:243449706 SDCCAG8 A>G	1	243449706	243449706	A	G	SDCCAG8	c.546+7A>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243449706A>G	(Likely) benign	1 lab	6f63117016
19:36594303 WDR62 CAG>C	19	36594303	36594305	CAG	C	WDR62	c.3574_3575del	NM_001083961.2	NP_001077430.1:p.(Arg1192GlufsTer44)	NC_000019.9:g.36594304_36594305del	(Likely) pathogenic	1 lab	6f645703c3
5:42719092 GHR C>A	5	42719092	42719092	C	A	GHR	c.1483C>A	NM_000163.5	NP_000154.1:p.(Pro495Thr)	NC_000005.9:g.42719092C>A	(Likely) benign	1 lab	6f66e581bd
16:2164240 PKD1 C>T	16	2164240	2164240	C	T	PKD1	c.2784G>A	NM_001009944.3	NP_001009944.3:p.(Ala928=)	NC_000016.9:g.2164240C>T	(Likely) benign	1 lab	6f69d00056
12:49433244 KMT2D C>A	12	49433244	49433244	C	A	KMT2D	c.8203G>T	NM_003482.4	NP_003473.3:p.(Gly2735Cys)	NC_000012.11:g.49433244C>A	VUS	1 lab	6f6cb9c55d
16:2140462 PKD1 GC>G	16	2140462	2140466	GC	G	PKD1	c.12267del	NM_001009944.3	NP_001009944.3:p.(Leu4090SerfsTer108)	NC_000016.9:g.2140466del	(Likely) pathogenic	1 lab	6f6e051787
11:124749145 ROBO3 G>A	11	124749145	124749145	G	A	ROBO3	c.3593G>A	NM_022370.4	NP_071765.2:p.(Arg1198His)	NC_000011.9:g.124749145G>A	(Likely) benign	1 lab	6f6e64dc63
2:74691784 MOGS C>T	2	74691784	74691784	C	T	MOGS	c.418G>A	NM_006302.3	NP_006293.2:p.(Gly140Arg)	NC_000002.11:g.74691784C>T	VUS	1 lab	6fa136bed4
17:40282486 RAB5C C>T	17	40282486	40282486	C	T	RAB5C	c.35G>A	NM_004583.4	NP_004574.2:p.(Gly12Glu)	NC_000017.10:g.40282486C>T	(Likely) benign	1 lab	6f72008bcb
2:54895638 SPTBN1 G>A	2	54895638	54895638	G	A	SPTBN1	c.7027G>A	NM_003128.3	NP_003119.2:p.(Gly2343Ser)	NC_000002.11:g.54895638G>A	VUS	1 lab	6f7604b760
12:6711209 CHD4 T>G	12	6711209	6711209	T	G	CHD4	c.355A>C	NM_001273.5	NP_001264.2:p.(Lys119Gln)	NC_000012.11:g.6711209T>G	VUS	1 lab	6f775cec06
6:35207543 SCUBE3 C>T	6	35207543	35207543	C	T	SCUBE3	c.844C>T	NM_152753.4	NP_689966.2:p.(Arg282Cys)	NC_000006.11:g.35207543C>T	VUS	1 lab	6f77d7b0f7
17:18647651 FBXW10 T>G	17	18647651	18647651	T	G	FBXW10	c.94T>G	NM_001267585.2	NP_001254514.1:p.(Cys32Gly)	NC_000017.10:g.18647651T>G	(Likely) benign	1 lab	6f788f0211
8:144899897 PUF60 G>A	8	144899897	144899897	G	A	PUF60	c.873C>T	NM_078480.3	NP_510965.1:p.(Asp291=)	NC_000008.10:g.144899897G>A	(Likely) benign	1 lab	6f7a938b7c
9:139925221 FUT7 A>G	9	139925221	139925221	A	G	FUT7	c.970T>C	NM_004479.4	NP_004470.1:p.(Tyr324His)	NC_000009.11:g.139925221A>G	(Likely) benign	1 lab	6f7b69bb3f
17:63554307 AXIN2 A>G	17	63554307	63554307	A	G	AXIN2	c.432T>C	NM_004655.4	NP_004646.3:p.(Ile144=)	NC_000017.10:g.63554307A>G	(Likely) benign	1 lab	6f7c2e2150
4:108871425 CYP2U1 A>G	4	108871425	108871425	A	G	CYP2U1	c.1481A>G	NM_183075.3	NP_898898.1:p.(Gln494Arg)	NC_000004.11:g.108871425A>G	VUS	1 lab	6f7c7d83fd
6:158900925 TULP4 G>A	6	158900925	158900925	G	A	TULP4	c.1169G>A	NM_020245.5	NP_064630.2:p.(Arg390His)	NC_000006.11:g.158900925G>A	(Likely) benign	1 lab	6f8b418899
6:170871054 TBP AGCAGCAGCAGCAGCAGCAGCAGCAG>A	6	170871054	170871079	AGCAGCAGCAGCAGCAGCAGCAGCAG	A	TBP	c.231_255del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer59)	NC_000006.11:g.170871055_170871079del	(Likely) benign	1 lab	6f7ee29b6b
19:34291328 KCTD15 C>T	19	34291328	34291328	C	T	KCTD15	c.-27-5C>T	NM_001129994.2	NP_001123466.1:p.?	NC_000019.9:g.34291328C>T	(Likely) benign	1 lab	6f7effcc5a
15:42147004 SPTBN5 G>C	15	42147004	42147004	G	C	SPTBN5	c.9594C>G	NM_016642.4	NP_057726.4:p.(Asp3198Glu)	NC_000015.9:g.42147004G>C	(Likely) benign	1 lab	6f7f3c119e
X:140985463 MAGEC3 T>G	X	140985463	140985463	T	G	MAGEC3	c.1777T>G	NM_138702.1	NP_619647.1:p.(Ser593Ala)	NC_000023.10:g.140985463T>G	(Likely) benign	1 lab	6f7f585c25
2:74076550 STAMBP TCCAGTTAG>T	2	74076550	74076563	TCCAGTTAG	T	STAMBP	c.809_816del	NM_213622.4	NP_998787.1:p.(Leu270CysfsTer21)	NC_000002.11:g.74076556_74076563del	VUS	1 lab	6f7fc59df8
10:114724469 TCF7L2 A>AGAT	10	114724469	114724472	A	AGAT	TCF7L2	c.450+87_450+89dup	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114724470_114724472dup	VUS	1 lab	6f804762f8
X:41064560 USP9X A>G	X	41064560	41064560	A	G	USP9X	c.4829A>G	NM_001039591.3	NP_001034680.2:p.(Asn1610Ser)	NC_000023.10:g.41064560A>G	VUS	1 lab	6f85bca36f
X:112059097 AMOT T>G	X	112059097	112059097	T	G	AMOT	c.881A>C	NM_001113490.2	NP_001106962.1:p.(Gln294Pro)	NC_000023.10:g.112059097T>G	VUS	1 lab	6f86342d37
9:140865949 CACNA1B G>A	9	140865949	140865949	G	A	CACNA1B	c.1448G>A	NM_000718.4	NP_000709.1:p.(Ser483Asn)	NC_000009.11:g.140865949G>A	VUS	1 lab	22aea4581d
14:32030658 NUBPL C>T	14	32030658	32030658	C	T	NUBPL	c.13C>T	NM_025152.3	NP_079428.2:p.(Gln5Ter)	NC_000014.8:g.32030658C>T	VUS	1 lab	6f879099bc
10:95445030 FRA10AC1 C>T	10	95445030	95445030	C	T	FRA10AC1	c.598G>A	NM_145246.5	NP_660289.2:p.(Glu200Lys)	NC_000010.10:g.95445030C>T	VUS	1 lab	6f8879ec9a
9:95481444 BICD2 C>G	9	95481444	95481444	C	G	BICD2	c.1483G>C	NM_001003800.2	NP_001003800.1:p.(Asp495His)	NC_000009.11:g.95481444C>G	VUS	1 lab	6f8a07e364
12:49579446 TUBA1A C>A	12	49579446	49579446	C	A	TUBA1A	c.703G>T	NM_006009.4	NP_006000.2:p.(Val235Leu)	NC_000012.11:g.49579446C>A	(Likely) pathogenic	1 lab	6f8a6e22d7
14:54420101 BMP4 G>A	14	54420101	54420101	G	A	BMP4	c.-115C>T	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54420101G>A	VUS	1 lab	6f8b085350
4:190878635 FRG1 CAGG>C	4	190878635	190878640	CAGG	C	FRG1	c.518_520del	NM_004477.3	NP_004468.1:p.(Gly173del)	NC_000004.11:g.190878638_190878640del	VUS	1 lab	6f8b93b32e
9:139994294 MAN1B1 G>A	9	139994294	139994294	G	A	MAN1B1	c.877G>A	NM_016219.5	NP_057303.2:p.(Asp293Asn)	NC_000009.11:g.139994294G>A	VUS	1 lab	6f8bfef912
19:1080733 ARHGAP45 G>A	19	1080733	1080733	G	A	ARHGAP45	c.1965G>A	NM_012292.5	NP_036424.2:p.(Thr655=)	NC_000019.9:g.1080733G>A	VUS	1 lab	6f8ca974e6
13:48835306 ITM2B C>T	13	48835306	48835306	C	T	ITM2B	c.747C>T	NM_021999.5	NP_068839.1:p.(Phe249=)	NC_000013.10:g.48835306C>T	(Likely) benign	1 lab	6f8e2fbd24
4:6303607 WFS1 C>T	4	6303607	6303607	C	T	WFS1	c.2085C>T	NM_006005.3	NP_005996.2:p.(Gly695=)	NC_000004.11:g.6303607C>T	(Likely) benign	1 lab	6f8ed161dc
2:209104713 IDH1 C>T	2	209104713	209104713	C	T	IDH1	c.865G>A	NM_005896.4	NP_005887.2:p.(Gly289Ser)	NC_000002.11:g.209104713C>T	VUS	1 lab	6f91dc6d00
17:68172385 KCNJ2 C>T	17	68172385	68172385	C	T	KCNJ2	c.1205C>T	NM_000891.2	NP_000882.1:p.(Thr402Met)	NC_000017.10:g.68172385C>T	(Likely) benign	1 lab	2404bd7f1a
15:89401085 ACAN G>A	15	89401085	89401085	G	A	ACAN	c.5269G>A	NM_001369268.1	NP_001356197.1:p.(Gly1757Arg)	NC_000015.9:g.89401085G>A	VUS	1 lab	6f94774e55
8:125035719 FER1L6 G>A	8	125035719	125035719	G	A	FER1L6	c.2169G>A	NM_001039112.2	NP_001034201.2:p.(Met723Ile)	NC_000008.10:g.125035719G>A	(Likely) benign	1 lab	6f9577cc53
9:396845 DOCK8 C>T	9	396845	396845	C	T	DOCK8	c.3031C>T	NM_203447.4	NP_982272.2:p.(Arg1011Cys)	NC_000009.11:g.396845C>T	VUS	1 lab	6f959ba979
17:40817490 TUBG2 C>A	17	40817490	40817490	C	A	TUBG2	c.607-4C>A	NM_016437.3	NP_057521.1:p.?	NC_000017.10:g.40817490C>A	(Likely) benign	1 lab	6f966c43d0
12:116440806 MED13L A>G	12	116440806	116440806	A	G	MED13L	c.2569+2T>C	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116440806A>G	VUS	1 lab	6f9680cb9e
1:171303737 FMO4 G>C	1	171303737	171303737	G	C	FMO4	c.1015G>C	NM_002022.3	NP_002013.1:p.(Glu339Gln)	NC_000001.10:g.171303737G>C	(Likely) benign	1 lab	6f96a05d1d
21:33076224 SCAF4 T>A	21	33076224	33076224	T	A	SCAF4	c.175A>T	NM_020706.2	NP_065757.1:p.(Lys59Ter)	NC_000021.8:g.33076224T>A	(Likely) pathogenic	1 lab	6f98660bca
6:170176095 ERMARD A>G	6	170176095	170176095	A	G	ERMARD	c.1454A>G	NM_018341.3	NP_060811.1:p.(Glu485Gly)	NC_000006.11:g.170176095A>G	(Likely) benign	1 lab	6f98fb476c
6:46669588 TDRD6 G>A	6	46669588	46669588	G	A	TDRD6	c.6262-7G>A	NM_001010870.3	NP_001010870.1:p.?	NC_000006.11:g.46669588G>A	(Likely) benign	1 lab	6f99bc42a8
4:39267680 WDR19 C>T	4	39267680	39267680	C	T	WDR19	c.3184-3C>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39267680C>T	(Likely) benign	1 lab	6f9b2dca91
X:49032507 PRICKLE3 C>T	X	49032507	49032507	C	T	PRICKLE3	c.1363G>A	NM_006150.5	NP_006141.2:p.(Gly455Ser)	NC_000023.10:g.49032507C>T	VUS	1 lab	6f9cc65f08
2:148701092 ORC4 C>A	2	148701092	148701092	C	A	ORC4	c.763-1G>T	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701092C>A	(Likely) benign	1 lab	6f9cf64797
5:60628181 ZSWIM6 A>G	5	60628181	60628181	A	G	ZSWIM6	c.82A>G	NM_020928.2	NP_065979.1:p.(Ser28Gly)	NC_000005.9:g.60628181A>G	VUS	1 lab	6f9d8a22dd
X:11793084 MSL3 AT>A	X	11793084	11793094	AT	A	MSL3	c.1467-5del	NM_078629.4	NP_523353.2:p.?	NC_000023.10:g.11793094del	(Likely) benign	1 lab	6fa048d86a
9:8319896 PTPRD C>G	9	8319896	8319896	C	G	PTPRD	c.5605G>C	NM_002839.4	NP_002830.1:p.(Val1869Leu)	NC_000009.11:g.8319896C>G	VUS	1 lab	6fa05ab69c
5:132232731 AFF4 G>A	5	132232731	132232731	G	A	AFF4	c.1591C>T	NM_014423.4	NP_055238.1:p.(Arg531Ter)	NC_000005.9:g.132232731G>A	VUS	1 lab	6fa158bd9b
2:70524513 TIMCC T>C	2	70524513	70524513	T	C	TIMCC	c.646A>G	NM_001329752.2	NP_001316681.1:p.(Ser216Gly)	NC_000002.11:g.70524513T>C	VUS	1 lab	6fa16e8864
X:36397482 CFAP47 C>T	X	36397482	36397482	C	T	CFAP47	c.9203C>T	NM_001304548.2	NP_001291477.1:p.(Thr3068Ile)	NC_000023.10:g.36397482C>T	VUS	1 lab	6fa1999c17
19:17397495 ANKLE1 GTGTGTT>G	19	17397495	17397506	GTGTGTT	G	ANKLE1	c.*140_*145del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501_17397506del	VUS	1 lab	6fa2303eb5
8:62415991 ASPH C>T	8	62415991	62415991	C	T	ASPH	c.2204G>A	NM_004318.4	NP_004309.2:p.(Arg735Gln)	NC_000008.10:g.62415991C>T	(Likely) pathogenic	1 lab	6fa4ae1a58
X:49104189 CCDC22 T>C	X	49104189	49104189	T	C	CCDC22	c.1052T>C	NM_014008.5	NP_054727.1:p.(Val351Ala)	NC_000023.10:g.49104189T>C	(Likely) benign	1 lab	6fa5a480b9
15:89402612 ACAN C>T	15	89402612	89402612	C	T	ACAN	c.6796C>T	NM_001369268.1	NP_001356197.1:p.(Pro2266Ser)	NC_000015.9:g.89402612C>T	(Likely) benign	1 lab	6fa7da1505
21:34975850 CRYZL1 T>C	21	34975850	34975850	T	C	CRYZL1	c.332-7A>G	NM_145858.3	NP_665857.2:p.?	NC_000021.8:g.34975850T>C	(Likely) benign	1 lab	6fa80ec6af
X:148631067 HSFX3 C>G	X	148631067	148631067	C	G	HSFX3	c.331G>C	NM_001323079.3	NP_001310008.1:p.(Asp111His)	NC_000023.10:g.148631067C>G	VUS	1 lab	6faaafb3e3
11:67811301 TCIRG1 C>T	11	67811301	67811301	C	T	TCIRG1	c.734C>T	NM_006019.4	NP_006010.2:p.(Pro245Leu)	NC_000011.9:g.67811301C>T	VUS	1 lab	6faaea77ea
16:88798802 PIEZO1 C>G	16	88798802	88798802	C	G	PIEZO1	c.2932G>C	NM_001142864.4	NP_001136336.2:p.(Asp978His)	NC_000016.9:g.88798802C>G	VUS	1 lab	6faaff60b3
1:196696029 CFH C>T	1	196696029	196696029	C	T	CFH	c.2195C>T	NM_000186.4	NP_000177.2:p.(Thr732Met)	NC_000001.10:g.196696029C>T	VUS	1 lab	6fab5fccc9
X:9912936 SHROOM2 G>A	X	9912936	9912936	G	A	SHROOM2	c.4567G>A	NM_001649.4	NP_001640.1:p.(Ala1523Thr)	NC_000023.10:g.9912936G>A	VUS	1 lab	6fac69bdda
12:30866806 CAPRIN2 A>G	12	30866806	30866806	A	G	CAPRIN2	c.2418T>C	NM_001385503.1	NP_001372432.1:p.(Tyr806=)	NC_000012.11:g.30866806A>G	(Likely) benign	1 lab	6fad23468b
7:128852024 SMO G>A	7	128852024	128852024	G	A	SMO	c.2096G>A	NM_005631.5	NP_005622.1:p.(Ser699Asn)	NC_000007.13:g.128852024G>A	VUS	1 lab	6fadccf7eb
5:45267265 HCN1 T>C	5	45267265	45267265	T	C	HCN1	c.1709A>G	NM_021072.4	NP_066550.2:p.(Asn570Ser)	NC_000005.9:g.45267265T>C	VUS	1 lab	6fb21e36bc
10:55570347 PCDH15 C>T	10	55570347	55570347	C	T	PCDH15	c.4640G>A	NM_001384140.1	NP_001371069.1:p.(Gly1547Asp)	NC_000010.10:g.55570347C>T	(Likely) benign	1 lab	6fb2d106d5
4:155241674 DCHS2 G>A	4	155241674	155241674	G	A	DCHS2	c.4877C>T	NM_001358235.2	NP_001345164.1:p.(Ala1626Val)	NC_000004.11:g.155241674G>A	VUS	1 lab	6fb691c9e7
2:179448549 TTN C>T	2	179448549	179448549	C	T	TTN	c.65360G>A	NM_001267550.2	NP_001254479.2:p.(Ser21787Asn)	NC_000002.11:g.179448549C>T	VUS	1 lab	6fb6bfdeb6
17:40836078 CNTNAP1 T>C	17	40836078	40836078	T	C	CNTNAP1	c.194T>C	NM_003632.3	NP_003623.1:p.(Ile65Thr)	NC_000017.10:g.40836078T>C	VUS	1 lab	6fb742d3d6
17:40897026 EZH1 C>G	17	40897026	40897026	C	G	EZH1	c.-103+3G>C	NM_001991.5	NP_001982.2:p.?	NC_000017.10:g.40897026C>G	(Likely) benign	1 lab	6fba277ad5
X:102004317 GPRASP3 A>G	X	102004317	102004317	A	G	GPRASP3	c.394A>G	NM_001142524.2	NP_001135996.1:p.(Ser132Gly)	NC_000023.10:g.102004317A>G	(Likely) benign	1 lab	6fbbd0bd77
X:107420072 COL4A6 C>A	X	107420072	107420072	C	A	COL4A6	c.2688G>T	NM_001847.4	NP_001838.2:p.(Lys896Asn)	NC_000023.10:g.107420072C>A	(Likely) benign	1 lab	22b2f82ce9
13:111296727 CARS2 C>T	13	111296727	111296727	C	T	CARS2	c.1416+5G>A	NM_024537.4	NP_078813.1:p.?	NC_000013.10:g.111296727C>T	(Likely) benign	1 lab	6fbd66399a
5:126145963 LMNB1 C>T	5	126145963	126145963	C	T	LMNB1	c.734C>T	NM_005573.4	NP_005564.1:p.(Ala245Val)	NC_000005.9:g.126145963C>T	VUS	1 lab	6fbdc0a55f
14:57114046 TMEM260 G>A	14	57114046	57114046	G	A	TMEM260	c.1955G>A	NM_017799.4	NP_060269.3:p.(Arg652His)	NC_000014.8:g.57114046G>A	(Likely) benign	1 lab	6fbe2e3f94
17:2236367 TSR1 G>C	17	2236367	2236367	G	C	TSR1	c.1193C>G	NM_018128.5	NP_060598.3:p.(Ser398Cys)	NC_000017.10:g.2236367G>C	VUS	1 lab	6fbf5d9ca1
4:5620290 EVC2 C>T	4	5620290	5620290	C	T	EVC2	c.2621G>A	NM_147127.5	NP_667338.3:p.(Arg874Gln)	NC_000004.11:g.5620290C>T	(Likely) benign	1 lab	6fc2b5cff4
6:117043295 KPNA5 C>T	6	117043295	117043295	C	T	KPNA5	c.763C>T	NM_001366306.2	NP_001353235.1:p.(Pro255Ser)	NC_000006.11:g.117043295C>T	VUS	1 lab	6fc3f1a491
15:99465288 IGF1R T>C	15	99465288	99465288	T	C	IGF1R	c.2202-89T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99465288T>C	(Likely) benign	1 lab	6fc48010fe
14:93686588 UBR7 C>T	14	93686588	93686588	C	T	UBR7	c.961-7C>T	NM_175748.4	NP_786924.2:p.?	NC_000014.8:g.93686588C>T	(Likely) benign	1 lab	6fc48c7f1f
20:60887746 LAMA5 G>T	20	60887746	60887746	G	T	LAMA5	c.9169C>A	NM_005560.6	NP_005551.3:p.(Leu3057Met)	NC_000020.10:g.60887746G>T	VUS	1 lab	6fc6cae945
X:37984724 SYTL5 T>C	X	37984724	37984724	T	C	SYTL5	c.2015T>C	NM_138780.3	NP_620135.1:p.(Ile672Thr)	NC_000023.10:g.37984724T>C	(Likely) benign	1 lab	6fc844e3c5
11:103043949 DYNC2H1 A>G	11	103043949	103043949	A	G	DYNC2H1	c.5473A>G	NM_001377.3	NP_001368.2:p.(Ile1825Val)	NC_000011.9:g.103043949A>G	VUS	1 lab	6fc96b506d
1:109806817 CELSR2 G>A	1	109806817	109806817	G	A	CELSR2	c.5119G>A	NM_001408.3	NP_001399.1:p.(Gly1707Arg)	NC_000001.10:g.109806817G>A	(Likely) benign	1 lab	6fca87e44d
2:171709305 GAD1 C>G	2	171709305	171709305	C	G	GAD1	c.1263+3C>G	NM_000817.3	NP_000808.2:p.?	NC_000002.11:g.171709305C>G	(Likely) benign	1 lab	6fcaf57ace
6:152673182 SYNE1 C>A	6	152673182	152673182	C	A	SYNE1	c.11560G>T	NM_182961.4	NP_892006.3:p.(Ala3854Ser)	NC_000006.11:g.152673182C>A	(Likely) benign	1 lab	6fcb230f22
3:122003562 CASR G>C	3	122003562	122003562	G	C	CASR	c.2761G>C	NM_000388.4	NP_000379.3:p.(Glu921Gln)	NC_000003.11:g.122003562G>C	VUS	1 lab	6fcc19685f
2:145156271 ZEB2 T>C	2	145156271	145156271	T	C	ZEB2	c.2483A>G	NM_014795.4	NP_055610.1:p.(Lys828Arg)	NC_000002.11:g.145156271T>C	VUS	1 lab	6fd12e6472
4:158091771 GLRB C>T	4	158091771	158091771	C	T	GLRB	c.1385C>T	NM_000824.5	NP_000815.1:p.(Ala462Val)	NC_000004.11:g.158091771C>T	(Likely) benign	1 lab	6fd15cd59e
17:56283397 MKS1 C>T	17	56283397	56283397	C	T	MKS1	c.*43G>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56283397C>T	VUS	1 lab	6fd2e626f9
X:129150111 BCORL1 C>T	X	129150111	129150111	C	T	BCORL1	c.3363C>T	NM_001379451.1	NP_001366380.1:p.(Cys1121=)	NC_000023.10:g.129150111C>T	(Likely) benign	1 lab	6fd41e9593
19:40408285 FCGBP G>C	19	40408285	40408285	G	C	FCGBP	c.4554C>G	NM_003890.3	NP_003881.2:p.(His1518Gln)	NC_000019.9:g.40408285G>C	VUS	1 lab	6fd7523b87
7:151960134 KMT2C C>T	7	151960134	151960134	C	T	KMT2C	c.1266G>A	NM_170606.3	NP_733751.2:p.(Met422Ile)	NC_000007.13:g.151960134C>T	VUS	1 lab	6fd8236f27
7:94045724 COL1A2 G>A	7	94045724	94045724	G	A	COL1A2	c.1772G>A	NM_000089.4	NP_000080.2:p.(Arg591His)	NC_000007.13:g.94045724G>A	VUS	1 lab	6fd8b826b8
19:47422822 ARHGAP35 G>A	19	47422822	47422822	G	A	ARHGAP35	c.890G>A	NM_004491.5	NP_004482.4:p.(Arg297Gln)	NC_000019.9:g.47422822G>A	VUS	1 lab	6fdbf904e0
1:161199675 NR1I3 C>T	1	161199675	161199675	C	T	NR1I3	c.959G>A	NM_005122.5	NP_005113.1:p.(Arg320Gln)	NC_000001.10:g.161199675C>T	VUS	1 lab	6fdd3be6d6
11:17632306 OTOG C>G	11	17632306	17632306	C	G	OTOG	c.5459C>G	NM_001292063.2	NP_001278992.1:p.(Ala1820Gly)	NC_000011.9:g.17632306C>G	(Likely) benign	1 lab	6fdd6e639c
16:70698040 MTSS2 G>A	16	70698040	70698040	G	A	MTSS2	c.1784C>T	NM_138383.3	NP_612392.1:p.(Thr595Met)	NC_000016.9:g.70698040G>A	(Likely) benign	1 lab	6fdea1e9be
17:7352015 CHRNB1 G>A	17	7352015	7352015	G	A	CHRNB1	c.728G>A	NM_000747.3	NP_000738.2:p.(Arg243His)	NC_000017.10:g.7352015G>A	VUS	1 lab	6fdebe4913
5:60817118 ZSWIM6 C>A	5	60817118	60817118	C	A	ZSWIM6	c.1362C>A	NM_020928.2	NP_065979.1:p.(Asn454Lys)	NC_000005.9:g.60817118C>A	VUS	1 lab	6fe2ca0374
17:15961336 NCOR1 C>A	17	15961336	15961336	C	A	NCOR1	c.6053G>T	NM_006311.4	NP_006302.2:p.(Arg2018Leu)	NC_000017.10:g.15961336C>A	VUS	1 lab	6fe38eb3fa
4:147214135 SLC10A7 G>A	4	147214135	147214135	G	A	SLC10A7	c.722-3C>T	NM_001029998.6	NP_001025169.1:p.?	NC_000004.11:g.147214135G>A	(Likely) benign	1 lab	6fe3a033f1
X:153577368 FLNA C>T	X	153577368	153577368	C	T	FLNA	c.7793G>A	NM_001110556.2	NP_001104026.1:p.(Arg2598Lys)	NC_000023.10:g.153577368C>T	(Likely) benign	1 lab	6fe501488f
4:5754577 EVC G>T	4	5754577	5754577	G	T	EVC	c.1113G>T	NM_153717.3	NP_714928.1:p.(Arg371Ser)	NC_000004.11:g.5754577G>T	VUS	1 lab	6fe57bd5cc
3:183960740 ALG3 C>T	3	183960740	183960740	C	T	ALG3	c.1015G>A	NM_005787.6	NP_005778.1:p.(Val339Ile)	NC_000003.11:g.183960740C>T	VUS	1 lab	6fe5dab2de
8:110464408 PKHD1L1 T>G	8	110464408	110464408	T	G	PKHD1L1	c.6406T>G	NM_177531.6	NP_803875.2:p.(Tyr2136Asp)	NC_000008.10:g.110464408T>G	(Likely) benign	1 lab	6fe682f801
10:122626116 WDR11 C>T	10	122626116	122626116	C	T	WDR11	c.1030C>T	NM_018117.12	NP_060587.8:p.(Arg344Ter)	NC_000010.10:g.122626116C>T	VUS	1 lab	6fe69715ae
20:3678680 SIGLEC1 G>T	20	3678680	3678680	G	T	SIGLEC1	c.1887C>A	NM_023068.4	NP_075556.1:p.(Asp629Glu)	NC_000020.10:g.3678680G>T	VUS	1 lab	6fe7f580c3
5:88025170 MEF2C AAAAT>A	5	88025170	88025181	AAAAT	A	MEF2C	c.835-10_835-7del	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88025178_88025181del	(Likely) benign	1 lab	6fe82a20c1
12:58207202 AVIL C>T	12	58207202	58207202	C	T	AVIL	c.146G>A	NM_006576.4	NP_006567.3:p.(Arg49Gln)	NC_000012.11:g.58207202C>T	VUS	1 lab	6fea27ed65
6:51914996 PKHD1 C>G	6	51914996	51914996	C	G	PKHD1	c.2238G>C	NM_138694.4	NP_619639.3:p.(Trp746Cys)	NC_000006.11:g.51914996C>G	VUS	1 lab	6fec07cac6
11:113214990 TTC12 G>A	11	113214990	113214990	G	A	TTC12	c.986-4G>A	NM_017868.4	NP_060338.3:p.?	NC_000011.9:g.113214990G>A	(Likely) benign	1 lab	6fed0cbf4d
11:103043931 DYNC2H1 C>T	11	103043931	103043931	C	T	DYNC2H1	c.5455C>T	NM_001377.3	NP_001368.2:p.(His1819Tyr)	NC_000011.9:g.103043931C>T	VUS	1 lab	6fedad21d7
2:163134171 IFIH1 AAACACGTTCTT>A	2	163134171	163134182	AAACACGTTCTT	A	IFIH1	c.1787_1797del	NM_022168.4	NP_071451.2:p.(Lys596MetfsTer10)	NC_000002.11:g.163134172_163134182del	VUS	1 lab	22b66b792a
19:49611568 SNRNP70 T>TG	19	49611568	49611573	T	TG	SNRNP70	c.1187dup	NM_003089.6	NP_003080.2:p.(Gly397ArgfsTer22)	NC_000019.9:g.49611573dup	VUS	1 lab	6ff1f626f3
15:91488179 UNC45A C>T	15	91488179	91488179	C	T	UNC45A	c.1085C>T	NM_018671.5	NP_061141.2:p.(Ala362Val)	NC_000015.9:g.91488179C>T	(Likely) benign	1 lab	6ff2b60a6c
12:114841553 TBX5 T>C	12	114841553	114841553	T	C	TBX5	c.147+4A>G	NM_181486.4	NP_852259.1:p.?	NC_000012.11:g.114841553T>C	(Likely) benign	1 lab	6ff3888175
9:71628712 PRKACG G>A	9	71628712	71628712	G	A	PRKACG	c.297C>T	NM_002732.4	NP_002723.2:p.(Ile99=)	NC_000009.11:g.71628712G>A	(Likely) benign	1 lab	6ff3b68470
16:19474643 TMC5 T>G	16	19474643	19474643	T	G	TMC5	c.1190T>G	NM_001261841.2	NP_001248770.1:p.(Ile397Ser)	NC_000016.9:g.19474643T>G	VUS	1 lab	6ff481df1e
11:60183502 MS4A14 A>T	11	60183502	60183502	A	T	MS4A14	c.1061A>T	NM_032597.5	NP_115986.3:p.(Asp354Val)	NC_000011.9:g.60183502A>T	VUS	1 lab	6ff564ccec
2:27883990 SUPT7L C>T	2	27883990	27883990	C	T	SUPT7L	c.280G>A	NM_014860.3	NP_055675.1:p.(Val94Ile)	NC_000002.11:g.27883990C>T	VUS	1 lab	6ff6e1e15b
14:89206753 EML5 C>T	14	89206753	89206753	C	T	EML5	c.689G>A	NM_183387.3	NP_899243.1:p.(Arg230Gln)	NC_000014.8:g.89206753C>T	(Likely) benign	1 lab	6ff77b5663
12:102869491 IGF1 C>T	12	102869491	102869491	C	T	IGF1	c.150G>A	NM_000618.5	NP_000609.1:p.(Pro50=)	NC_000012.11:g.102869491C>T	(Likely) benign	1 lab	6ff93538b5
15:48722916 FBN1 T>G	15	48722916	48722916	T	G	FBN1	c.6823A>C	NM_000138.5	NP_000129.3:p.(Ile2275Leu)	NC_000015.9:g.48722916T>G	(Likely) pathogenic	1 lab	6ff9b4b889
1:12639311 DHRS3 T>G	1	12639311	12639311	T	G	DHRS3	c.459+10A>C	NM_004753.7	NP_004744.2:p.?	NC_000001.10:g.12639311T>G	(Likely) benign	1 lab	6ff9f9286d
22:40069963 CACNA1I C>T	22	40069963	40069963	C	T	CACNA1I	c.4784-5C>T	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40069963C>T	(Likely) benign	1 lab	6ffb2b0872
1:161043510 NECTIN4 C>A	1	161043510	161043510	C	A	NECTIN4	c.1233G>T	NM_030916.3	NP_112178.2:p.(Gln411His)	NC_000001.10:g.161043510C>A	VUS	1 lab	6ffebf9018
6:136603827 BCLAF1 T>TGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCGATTC	6	136603827	136603828	T	TGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCGATTC	BCLAF1	c.-114-3_-114-2insGAATCGGGAAATGGCCGCTGTGTGGTTGCAACGGAGATAAATTCCCGTAACCGCGATTCGGCGTGTC	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136603827_136603828insGACACGCCGAATCGCGGTTACGGGAATTTATCTCCGTTGCAACCACACAGCGGCCATTTCCCGATTC	(Likely) benign	1 lab	6fff5ec5b5
2:48026281 MSH6 G>A	2	48026281	48026281	G	A	MSH6	c.1159G>A	NM_000179.3	NP_000170.1:p.(Asp387Asn)	NC_000002.11:g.48026281G>A	VUS	1 lab	7025194cb7
20:60908722 LAMA5 C>T	20	60908722	60908722	C	T	LAMA5	c.2919G>A	NM_005560.6	NP_005551.3:p.(Thr973=)	NC_000020.10:g.60908722C>T	(Likely) benign	1 lab	70002b0f81
20:9391733 PLCB4 C>T	20	9391733	9391733	C	T	PLCB4	c.2049C>T	NM_001377142.1	NP_001364071.1:p.(Cys683=)	NC_000020.10:g.9391733C>T	(Likely) benign	1 lab	7002dd5b33
16:30732705 SRCAP C>T	16	30732705	30732705	C	T	SRCAP	c.3449C>T	NM_006662.3	NP_006653.2:p.(Thr1150Ile)	NC_000016.9:g.30732705C>T	(Likely) benign	1 lab	7003a73f15
11:73748736 C2CD3 G>T	11	73748736	73748736	G	T	C2CD3	c.5668C>A	NM_001286577.2	NP_001273506.1:p.(Leu1890Met)	NC_000011.9:g.73748736G>T	(Likely) benign	1 lab	7005fec619
9:36222854 GNE C>A	9	36222854	36222854	C	A	GNE	c.1553G>T	NM_005476.7	NP_005467.1:p.(Gly518Val)	NC_000009.11:g.36222854C>A	(Likely) pathogenic	1 lab	70072977d6
12:56756516 APOF C>G	12	56756516	56756516	C	G	APOF	c.14G>C	NM_001638.4	NP_001629.1:p.(Cys5Ser)	NC_000012.11:g.56756516C>G	(Likely) benign	1 lab	7007bfdb0b
1:236205279 NID1 C>T	1	236205279	236205279	C	T	NID1	c.1066G>A	NM_002508.3	NP_002499.2:p.(Ala356Thr)	NC_000001.10:g.236205279C>T	VUS	1 lab	7007d85eee
16:76495858 CNTNAP4 G>A	16	76495858	76495858	G	A	CNTNAP4	c.1339G>A	NM_033401.5	NP_207837.2:p.(Glu447Lys)	NC_000016.9:g.76495858G>A	VUS	1 lab	7007e12d76
7:107545958 DLD G>A	7	107545958	107545958	G	A	DLD	c.582+9G>A	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107545958G>A	(Likely) benign	1 lab	7008cb7565
22:40075767 CACNA1I A>G	22	40075767	40075767	A	G	CACNA1I	c.5435A>G	NM_021096.4	NP_066919.2:p.(Asp1812Gly)	NC_000022.10:g.40075767A>G	VUS	1 lab	70095e159d
12:79842781 SYT1 C>G	12	79842781	79842781	C	G	SYT1	c.1146C>G	NM_005639.3	NP_005630.1:p.(Asn382Lys)	NC_000012.11:g.79842781C>G	VUS	1 lab	700a54bf59
4:174450380 HAND2 C>T	4	174450380	174450380	C	T	HAND2	c.61G>A	NM_021973.3	NP_068808.1:p.(Ala21Thr)	NC_000004.11:g.174450380C>T	VUS	1 lab	700a590c75
20:1584604 SIRPB1 C>A	20	1584604	1584604	C	A	SIRPB1	c.76+15911G>T	NM_006065.5	NP_006056.2:p.?	NC_000020.10:g.1584604C>A	VUS	1 lab	700b778ae5
2:239975285 HDAC4 C>T	2	239975285	239975285	C	T	HDAC4	c.3101G>A	NM_001378414.1	NP_001365343.1:p.(Arg1034His)	NC_000002.11:g.239975285C>T	(Likely) benign	1 lab	700bee8b49
11:103047027 DYNC2H1 C>G	11	103047027	103047027	C	G	DYNC2H1	c.5738C>G	NM_001377.3	NP_001368.2:p.(Thr1913Ser)	NC_000011.9:g.103047027C>G	VUS	1 lab	700cdc29db
1:1248938 INTS11 C>T	1	1248938	1248938	C	T	INTS11	c.992G>A	NM_017871.6	NP_060341.2:p.(Gly331Glu)	NC_000001.10:g.1248938C>T	VUS	1 lab	700d84c1c7
6:163899814 QKI TAA>T	6	163899814	163899816	TAA	T	QKI	c.289_290del	NM_006775.3	NP_006766.1:p.(Asn97PhefsTer9)	NC_000006.11:g.163899815_163899816del	(Likely) benign	1 lab	700e1aabac
2:109399316 RANBP2 C>G	2	109399316	109399316	C	G	RANBP2	c.9367C>G	NM_006267.5	NP_006258.3:p.(Gln3123Glu)	NC_000002.11:g.109399316C>G	(Likely) benign	1 lab	700e353621
16:58078903 MMP15 C>T	16	58078903	58078903	C	T	MMP15	c.1571-8C>T	NM_002428.4	NP_002419.1:p.?	NC_000016.9:g.58078903C>T	(Likely) benign	1 lab	700f05983e
13:111335482 CARS2 CTG>C	13	111335482	111335485	CTG	C	CARS2	c.572-3_572-2del	NM_024537.4	NP_078813.1:p.?	NC_000013.10:g.111335484_111335485del	(Likely) benign	1 lab	701144dba3
10:12131127 DHTKD1 C>A	10	12131127	12131127	C	A	DHTKD1	c.860C>A	NM_018706.7	NP_061176.4:p.(Pro287His)	NC_000010.10:g.12131127C>A	(Likely) pathogenic	1 lab	7011ecd206
17:41245755 BRCA1 A>C	17	41245755	41245755	A	C	BRCA1	c.1793T>G	NM_007294.4	NP_009225.1:p.(Leu598Ter)	NC_000017.10:g.41245755A>C	(Likely) pathogenic	1 lab	70126e2537
4:88536580 DSPP TAGC>T	4	88536580	88536585	TAGC	T	DSPP	c.2769_2771del	NM_014208.3	NP_055023.2:p.(Ser924del)	NC_000004.11:g.88536583_88536585del	(Likely) benign	1 lab	7012c1d029
17:61994855 GH1 A>G	17	61994855	61994855	A	G	GH1	c.468T>C	NM_000515.5	NP_000506.2:p.(Asp156=)	NC_000017.10:g.61994855A>G	(Likely) benign	1 lab	70138e5b1d
16:89258738 CDH15 C>A	16	89258738	89258738	C	A	CDH15	c.1741C>A	NM_004933.3	NP_004924.1:p.(Arg581Ser)	NC_000016.9:g.89258738C>A	VUS	1 lab	7013b9e25d
2:152353456 NEB G>A	2	152353456	152353456	G	A	NEB	c.24392C>T	NM_001164508.2	NP_001157980.2:p.(Ser8131Leu)	NC_000002.11:g.152353456G>A	VUS	1 lab	7016487137
22:50659499 TUBGCP6 C>T	22	50659499	50659499	C	T	TUBGCP6	c.3289G>A	NM_020461.4	NP_065194.3:p.(Val1097Met)	NC_000022.10:g.50659499C>T	(Likely) benign	1 lab	701694d1a5
17:80042665 FASN G>A	17	80042665	80042665	G	A	FASN	c.4564+10C>T	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80042665G>A	(Likely) benign	1 lab	7018360456
19:7686067 XAB2 G>T	19	7686067	7686067	G	T	XAB2	c.1734C>A	NM_020196.3	NP_064581.2:p.(Asp578Glu)	NC_000019.9:g.7686067G>T	(Likely) benign	1 lab	7019690555
17:66538223 FAM20A C>T	17	66538223	66538223	C	T	FAM20A	c.1012G>A	NM_017565.4	NP_060035.2:p.(Gly338Ser)	NC_000017.10:g.66538223C>T	VUS	1 lab	701972d889
19:10748609 SLC44A2 G>A	19	10748609	10748609	G	A	SLC44A2	c.1769+4G>A	NM_020428.4	NP_065161.3:p.?	NC_000019.9:g.10748609G>A	(Likely) benign	1 lab	7019daf070
8:28217289 ZNF395 C>G	8	28217289	28217289	C	G	ZNF395	c.293G>C	NM_018660.3	NP_061130.1:p.(Ser98Thr)	NC_000008.10:g.28217289C>G	VUS	1 lab	22baaaa4b9
2:39222320 SOS1 C>T	2	39222320	39222320	C	T	SOS1	c.3290G>A	NM_005633.4	NP_005624.2:p.(Ser1097Asn)	NC_000002.11:g.39222320C>T	VUS	1 lab	701a71fdfe
12:104124016 STAB2 CA>C	12	104124016	104124018	CA	C	STAB2	c.5207del	NM_017564.10	NP_060034.9:p.(Asn1736ThrfsTer24)	NC_000012.11:g.104124018del	VUS	1 lab	701b34cf8e
19:2456861 LMNB2 G>T	19	2456861	2456861	G	T	LMNB2	c.71C>A	NM_032737.4	NP_116126.3:p.(Pro24Gln)	NC_000019.9:g.2456861G>T	VUS	1 lab	701baa256e
21:47860019 PCNT G>T	21	47860019	47860019	G	T	PCNT	c.9297G>T	NM_006031.6	NP_006022.3:p.(Lys3099Asn)	NC_000021.8:g.47860019G>T	VUS	1 lab	701bc204de
14:36986700 NKX2-1 G>A	14	36986700	36986700	G	A	NKX2-1	c.989C>T	NM_001079668.3	NP_001073136.1:p.(Ala330Val)	NC_000014.8:g.36986700G>A	(Likely) benign	1 lab	701ec0d0f2
17:29552221 NF1 C>T	17	29552221	29552221	C	T	NF1	c.1954C>T	NM_001042492.3	NP_001035957.1:p.(Arg652Cys)	NC_000017.10:g.29552221C>T	VUS	1 lab	7021a7a35f
3:15515794 COLQ T>C	3	15515794	15515794	T	C	COLQ	c.556-15A>G	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15515794T>C	(Likely) benign	1 lab	70236fcda4
2:232325414 NCL TTCA>T	2	232325414	232325428	TTCA	T	NCL	c.774_776del	NM_005381.3	NP_005372.2:p.(Asp258del)	NC_000002.11:g.232325426_232325428del	(Likely) benign	1 lab	7023805111
17:78073494 CCDC40 G>A	17	78073494	78073494	G	A	CCDC40	c.3349G>A	NM_017950.4	NP_060420.2:p.(Glu1117Lys)	NC_000017.10:g.78073494G>A	(Likely) benign	1 lab	7023f4fe99
12:56493677 ERBB3 A>G	12	56493677	56493677	A	G	ERBB3	c.2993A>G	NM_001982.4	NP_001973.2:p.(Lys998Arg)	NC_000012.11:g.56493677A>G	VUS	1 lab	7023f944dd
X:117752648 DOCK11 ATC>A	X	117752648	117752651	ATC	A	DOCK11	c.3430_3431del	NM_144658.4	NP_653259.3:p.(Leu1144PhefsTer7)	NC_000023.10:g.117752650_117752651del	VUS	1 lab	70254a6562
1:152283577 FLG G>T	1	152283577	152283577	G	T	FLG	c.3785C>A	NM_002016.2	NP_002007.1:p.(Thr1262Lys)	NC_000001.10:g.152283577G>T	(Likely) benign	1 lab	7026bbd132
16:88872885 CDT1 T>C	16	88872885	88872885	T	C	CDT1	c.934-9T>C	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88872885T>C	(Likely) benign	1 lab	7027c2ed7f
15:89402240 ACAN G>A	15	89402240	89402240	G	A	ACAN	c.6424G>A	NM_001369268.1	NP_001356197.1:p.(Glu2142Lys)	NC_000015.9:g.89402240G>A	VUS	1 lab	702a10f92d
11:118376901 KMT2A C>T	11	118376901	118376901	C	T	KMT2A	c.10294C>T	NM_001197104.2	NP_001184033.1:p.(Leu3432Phe)	NC_000011.9:g.118376901C>T	VUS	1 lab	702a795191
13:39420757 FREM2 G>A	13	39420757	39420757	G	A	FREM2	c.6067G>A	NM_207361.6	NP_997244.4:p.(Ala2023Thr)	NC_000013.10:g.39420757G>A	VUS	1 lab	702aacea68
1:103544276 COL11A1 G>A	1	103544276	103544276	G	A	COL11A1	c.426C>T	NM_001854.4	NP_001845.3:p.(His142=)	NC_000001.10:g.103544276G>A	(Likely) benign	1 lab	702bffa9fc
4:1920189 NSD2 G>A	4	1920189	1920189	G	A	NSD2	c.1249G>A	NM_001042424.3	NP_001035889.1:p.(Asp417Asn)	NC_000004.11:g.1920189G>A	(Likely) benign	1 lab	702cd320d6
21:47423036 COL6A1 A>G	21	47423036	47423036	A	G	COL6A1	c.2437A>G	NM_001848.3	NP_001839.2:p.(Lys813Glu)	NC_000021.8:g.47423036A>G	VUS	1 lab	702d771de5
X:129042696 UTP14A A>G	X	129042696	129042696	A	G	UTP14A	c.224A>G	NM_006649.4	NP_006640.2:p.(Asn75Ser)	NC_000023.10:g.129042696A>G	(Likely) benign	1 lab	702decc3b6
8:61134905 CA8 C>T	8	61134905	61134905	C	T	CA8	c.738+303G>A	NM_004056.6	NP_004047.3:p.?	NC_000008.10:g.61134905C>T	(Likely) benign	1 lab	702e4e9ca8
2:75107519 HK2 G>C	2	75107519	75107519	G	C	HK2	c.1393G>C	NM_000189.5	NP_000180.2:p.(Asp465His)	NC_000002.11:g.75107519G>C	(Likely) benign	1 lab	702f18bdc2
12:80663933 OTOGL T>C	12	80663933	80663933	T	C	OTOGL	c.2517T>C	NM_001378609.3	NP_001365538.2:p.(Ala839=)	NC_000012.11:g.80663933T>C	(Likely) benign	1 lab	702f96e139
1:103352416 COL11A1 T>C	1	103352416	103352416	T	C	COL11A1	c.4805A>G	NM_001854.4	NP_001845.3:p.(Asn1602Ser)	NC_000001.10:g.103352416T>C	VUS	1 lab	7030179803
12:110252397 TRPV4 T>G	12	110252397	110252397	T	G	TRPV4	c.205A>C	NM_021625.5	NP_067638.3:p.(Met69Leu)	NC_000012.11:g.110252397T>G	(Likely) benign	1 lab	703109a89b
17:56292126 MKS1 C>T	17	56292126	56292126	C	T	MKS1	c.491G>A	NM_017777.4	NP_060247.2:p.(Arg164His)	NC_000017.10:g.56292126C>T	VUS	1 lab	70326b7c6d
X:119760360 C1GALT1C1 T>C	X	119760360	119760360	T	C	C1GALT1C1	c.662A>G	NM_001011551.3	NP_001011551.1:p.(Lys221Arg)	NC_000023.10:g.119760360T>C	(Likely) benign	1 lab	703295e9a8
15:75648353 MAN2C1 G>C	15	75648353	75648353	G	C	MAN2C1	c.3017C>G	NM_006715.4	NP_006706.2:p.(Pro1006Arg)	NC_000015.9:g.75648353G>C	(Likely) benign	1 lab	70333ba2c8
1:2235473 SKI C>T	1	2235473	2235473	C	T	SKI	c.1406C>T	NM_003036.4	NP_003027.1:p.(Ala469Val)	NC_000001.10:g.2235473C>T	(Likely) benign	1 lab	70352eba2f
3:51430631 RBM15B A>G	3	51430631	51430631	A	G	RBM15B	c.1801A>G	NM_013286.5	NP_037418.3:p.(Ser601Gly)	NC_000003.11:g.51430631A>G	VUS	1 lab	703616a10f
15:48744850 FBN1 G>C	15	48744850	48744850	G	C	FBN1	c.5454C>G	NM_000138.5	NP_000129.3:p.(Cys1818Trp)	NC_000015.9:g.48744850G>C	VUS	1 lab	7036f06b88
2:152375544 NEB C>T	2	152375544	152375544	C	T	NEB	c.22630G>A	NM_001164508.2	NP_001157980.2:p.(Val7544Met)	NC_000002.11:g.152375544C>T	VUS	1 lab	7038d375b7
3:49694362 BSN T>TGCAGCAGCAGCTGCA	3	49694362	49694385	T	TGCAGCAGCAGCTGCA	BSN	c.7382_7396dup	NM_003458.4	NP_003449.2:p.(Gln2461_Gln2465dup)	NC_000003.11:g.49694371_49694385dup	VUS	1 lab	70394088d9
17:19576586 ALDH3A2 G>A	17	19576586	19576586	G	A	ALDH3A2	c.1443+1317G>A	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19576586G>A	VUS	1 lab	7039bf3ade
11:67926195 KMT5B G>A	11	67926195	67926195	G	A	KMT5B	c.1618C>T	NM_017635.5	NP_060105.3:p.(Arg540Trp)	NC_000011.9:g.67926195G>A	VUS	1 lab	703a2dc369
10:61833494 ANK3 G>A	10	61833494	61833494	G	A	ANK3	c.7145C>T	NM_020987.5	NP_066267.2:p.(Ala2382Val)	NC_000010.10:g.61833494G>A	VUS	1 lab	703a667c60
19:17611408 SLC27A1 G>A	19	17611408	17611408	G	A	SLC27A1	c.1438G>A	NM_198580.3	NP_940982.1:p.(Val480Ile)	NC_000019.9:g.17611408G>A	(Likely) benign	1 lab	703aaf3c9d
15:41226833 DLL4 G>A	15	41226833	41226833	G	A	DLL4	c.938G>A	NM_019074.4	NP_061947.1:p.(Arg313His)	NC_000015.9:g.41226833G>A	(Likely) benign	1 lab	22bd44b1f9
17:61570992 ACE C>A	17	61570992	61570992	C	A	ACE	c.3108C>A	NM_000789.4	NP_000780.1:p.(Asn1036Lys)	NC_000017.10:g.61570992C>A	(Likely) benign	1 lab	703c469231
19:48946613 GRIN2D C>T	19	48946613	48946613	C	T	GRIN2D	c.3430C>T	NM_000836.4	NP_000827.2:p.(Arg1144Cys)	NC_000019.9:g.48946613C>T	VUS	1 lab	703d5f78f3
19:2416706 TMPRSS9 A>G	19	2416706	2416706	A	G	TMPRSS9	c.1916A>G	NM_001395513.1	NP_001382442.1:p.(Asn639Ser)	NC_000019.9:g.2416706A>G	VUS	1 lab	703e83d582
11:47819940 NUP160 C>T	11	47819940	47819940	C	T	NUP160	c.2971G>A	NM_015231.2	NP_056046.1:p.(Gly991Ser)	NC_000011.9:g.47819940C>T	(Likely) benign	1 lab	240a591712
5:1282666 TERT C>T	5	1282666	1282666	C	T	TERT	c.1647G>A	NM_198253.3	NP_937983.2:p.(Met549Ile)	NC_000005.9:g.1282666C>T	VUS	1 lab	7040350b06
8:86392969 CA2 G>A	8	86392969	86392969	G	A	CA2	c.734G>A	NM_000067.3	NP_000058.1:p.(Arg245His)	NC_000008.10:g.86392969G>A	VUS	1 lab	7040df6194
18:46645115 DYM A>C	18	46645115	46645115	A	C	DYM	c.1910T>G	NM_001353214.3	NP_001340143.1:p.(Leu637Arg)	NC_000018.9:g.46645115A>C	VUS	1 lab	704246bc96
1:103345396 COL11A1 G>A	1	103345396	103345396	G	A	COL11A1	c.5117C>T	NM_001854.4	NP_001845.3:p.(Ala1706Val)	NC_000001.10:g.103345396G>A	VUS	1 lab	7042515dd0
12:49360105 WNT10B G>A	12	49360105	49360105	G	A	WNT10B	c.943C>T	NM_003394.4	NP_003385.2:p.(Pro315Ser)	NC_000012.11:g.49360105G>A	VUS	1 lab	704461f8f6
1:17296833 CROCC G>A	1	17296833	17296833	G	A	CROCC	c.5537G>A	NM_014675.5	NP_055490.4:p.(Arg1846His)	NC_000001.10:g.17296833G>A	(Likely) benign	1 lab	70453b6355
6:117239212 RFX6 G>A	6	117239212	117239212	G	A	RFX6	c.985G>A	NM_173560.4	NP_775831.2:p.(Val329Ile)	NC_000006.11:g.117239212G>A	(Likely) benign	1 lab	7046b59d80
X:110435416 PAK3 G>A	X	110435416	110435416	G	A	PAK3	c.879+13G>A	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110435416G>A	(Likely) benign	1 lab	240b6ccf40
1:155450267 ASH1L T>A	1	155450267	155450267	T	A	ASH1L	c.2394A>T	NM_018489.3	NP_060959.2:p.(Lys798Asn)	NC_000001.10:g.155450267T>A	VUS	1 lab	7047cf43c4
13:108861048 LIG4 C>T	13	108861048	108861048	C	T	LIG4	c.2569G>A	NM_002312.3	NP_002303.2:p.(Ala857Thr)	NC_000013.10:g.108861048C>T	(Likely) benign	1 lab	240cc230ba
19:47502572 ARHGAP35 C>T	19	47502572	47502572	C	T	ARHGAP35	c.4048C>T	NM_004491.5	NP_004482.4:p.(Arg1350Trp)	NC_000019.9:g.47502572C>T	VUS	1 lab	704830b6d8
9:117064372 COL27A1 G>A	9	117064372	117064372	G	A	COL27A1	c.4856G>A	NM_032888.4	NP_116277.2:p.(Gly1619Glu)	NC_000009.11:g.117064372G>A	VUS	1 lab	70489adc3e
2:175624268 CHRNA1 C>T	2	175624268	175624268	C	T	CHRNA1	c.137G>A	NM_000079.4	NP_000070.1:p.(Arg46His)	NC_000002.11:g.175624268C>T	VUS	1 lab	70499d63be
4:1985430 NELFA G>A	4	1985430	1985430	G	A	NELFA	c.1303-8C>T	NM_005663.5	NP_005654.4:p.?	NC_000004.11:g.1985430G>A	(Likely) benign	1 lab	7049d0ef0d
12:109998906 MMAB C>G	12	109998906	109998906	C	G	MMAB	c.523G>C	NM_052845.4	NP_443077.1:p.(Gly175Arg)	NC_000012.11:g.109998906C>G	VUS	1 lab	704adeb9f8
16:1254349 CACNA1H C>T	16	1254349	1254349	C	T	CACNA1H	c.2342C>T	NM_021098.3	NP_066921.2:p.(Thr781Ile)	NC_000016.9:g.1254349C>T	(Likely) benign	1 lab	704b4bb072
17:27614733 NUFIP2 G>A	17	27614733	27614733	G	A	NUFIP2	c.279C>T	NM_020772.3	NP_065823.1:p.(Gly93=)	NC_000017.10:g.27614733G>A	VUS	1 lab	704c22c1b2
X:18966927 PHKA2 T>C	X	18966927	18966927	T	C	PHKA2	c.472A>G	NM_000292.3	NP_000283.1:p.(Thr158Ala)	NC_000023.10:g.18966927T>C	(Likely) benign	1 lab	704cf1635d
11:2798214 KCNQ1 A>G	11	2798214	2798214	A	G	KCNQ1	c.1686-2A>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2798214A>G	(Likely) pathogenic	1 lab	704dcbebeb
6:97730434 MMS22L TGGGGG>T	6	97730434	97730447	TGGGGG	T	MMS22L	c.-76-10_-76-6del	NM_001350599.2	NP_001337528.1:p.?	NC_000006.11:g.97730443_97730447del	VUS	1 lab	704e7a2d1c
17:10542708 MYH3 C>T	17	10542708	10542708	C	T	MYH3	c.3009G>A	NM_002470.4	NP_002461.2:p.(Ala1003=)	NC_000017.10:g.10542708C>T	(Likely) benign	1 lab	704ea16239
7:143095849 EPHA1 G>A	7	143095849	143095849	G	A	EPHA1	c.1181C>T	NM_005232.5	NP_005223.4:p.(Pro394Leu)	NC_000007.13:g.143095849G>A	VUS	1 lab	704f3ea7c5
4:119952605 SYNPO2 C>T	4	119952605	119952605	C	T	SYNPO2	c.2675C>T	NM_133477.3	NP_597734.2:p.(Thr892Met)	NC_000004.11:g.119952605C>T	(Likely) benign	1 lab	704fd913a7
18:10677793 PIEZO2 T>C	18	10677793	10677793	T	C	PIEZO2	c.8032A>G	NM_001378183.1	NP_001365112.1:p.(Ile2678Val)	NC_000018.9:g.10677793T>C	(Likely) benign	1 lab	704ff40640
1:144909959 PDE4DIP T>C	1	144909959	144909959	T	C	PDE4DIP	c.2427A>G	NM_001395426.1	NP_001382355.1:p.(Gly809=)	NC_000001.10:g.144909959T>C	VUS	1 lab	705132c311
1:93301813 RPL5 A>G	1	93301813	93301813	A	G	RPL5	c.391A>G	NM_000969.5	NP_000960.2:p.(Asn131Asp)	NC_000001.10:g.93301813A>G	VUS	1 lab	705509bf48
10:89268263 MINPP1 C>A	10	89268263	89268263	C	A	MINPP1	c.808C>A	NM_004897.5	NP_004888.2:p.(Gln270Lys)	NC_000010.10:g.89268263C>A	VUS	1 lab	705529a709
2:38298026 CYP1B1 A>G	2	38298026	38298026	A	G	CYP1B1	c.1471T>C	NM_000104.4	NP_000095.2:p.(Cys491Arg)	NC_000002.11:g.38298026A>G	VUS	1 lab	705581bdc7
16:70815787 VAC14 C>T	16	70815787	70815787	C	T	VAC14	c.931G>A	NM_018052.5	NP_060522.3:p.(Asp311Asn)	NC_000016.9:g.70815787C>T	VUS	1 lab	7055a67a77
1:156106776 LMNA G>A	1	156106776	156106776	G	A	LMNA	c.1445G>A	NM_170707.4	NP_733821.1:p.(Arg482Gln)	NC_000001.10:g.156106776G>A	(Likely) pathogenic	1 lab	7055f05255
1:228461030 OBSCN C>T	1	228461030	228461030	C	T	OBSCN	c.6044C>T	NM_001271223.2	NP_001258152.2:p.(Ala2015Val)	NC_000001.10:g.228461030C>T	(Likely) benign	1 lab	240ffabab0
15:89386881 ACAN T>C	15	89386881	89386881	T	C	ACAN	c.1051+2T>C	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386881T>C	VUS	1 lab	705789ecb7
18:19780718 GATA6 C>T	18	19780718	19780718	C	T	GATA6	c.1720C>T	NM_005257.6	NP_005248.2:p.(Leu574Phe)	NC_000018.9:g.19780718C>T	VUS	1 lab	705b5b5c07
6:114181393 MARCKS G>A	6	114181393	114181393	G	A	MARCKS	c.637G>A	NM_002356.7	NP_002347.5:p.(Glu213Lys)	NC_000006.11:g.114181393G>A	VUS	1 lab	705bd4d309
11:108114679 ATM G>T	11	108114679	108114679	G	T	ATM	c.497-1G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114679G>T	(Likely) benign	1 lab	705cc4a64f
17:15928441 TTC19 G>T	17	15928441	15928441	G	T	TTC19	c.787G>T	NM_017775.4	NP_060245.3:p.(Ala263Ser)	NC_000017.10:g.15928441G>T	VUS	1 lab	705f2aa5b5
17:44248272 KANSL1 A>T	17	44248272	44248272	A	T	KANSL1	c.1238T>A	NM_015443.4	NP_056258.1:p.(Ile413Asn)	NC_000017.10:g.44248272A>T	VUS	1 lab	70620c2d67
4:178358546 AGA A>G	4	178358546	178358546	A	G	AGA	c.622+13T>C	NM_000027.4	NP_000018.2:p.?	NC_000004.11:g.178358546A>G	(Likely) benign	1 lab	22c06a2939
4:169799384 PALLD A>ACCG	4	169799384	169799391	A	ACCG	PALLD	c.1965-12684_1965-12682dup	NM_001166108.2	NP_001159580.1:p.?	NC_000004.11:g.169799389_169799391dup	(Likely) benign	1 lab	70639bb956
4:1347069 UVSSA G>A	4	1347069	1347069	G	A	UVSSA	c.802G>A	NM_020894.4	NP_065945.2:p.(Gly268Ser)	NC_000004.11:g.1347069G>A	(Likely) benign	1 lab	7063b39243
6:131948816 MED23 T>TAA	6	131948816	131948830	T	TAA	MED23	c.40-6_40-5dup	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131948829_131948830dup	(Likely) benign	1 lab	7063c36a39
7:151836261 KMT2C G>C	7	151836261	151836261	G	C	KMT2C	c.14534+10C>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151836261G>C	(Likely) benign	1 lab	7063f1b63a
15:91423510 FURIN G>C	15	91423510	91423510	G	C	FURIN	c.1556+7G>C	NM_002569.4	NP_002560.1:p.?	NC_000015.9:g.91423510G>C	(Likely) benign	1 lab	7063fad9c5
12:6105242 VWF C>T	12	6105242	6105242	C	T	VWF	c.5989G>A	NM_000552.5	NP_000543.3:p.(Ala1997Thr)	NC_000012.11:g.6105242C>T	(Likely) benign	1 lab	706423604d
12:121438914 HNF1A T>C	12	121438914	121438914	T	C	HNF1A	c.1815T>C	NM_000545.8	NP_000536.6:p.(Asn605=)	NC_000012.11:g.121438914T>C	(Likely) benign	1 lab	70648941f9
X:99662593 PCDH19 T>A	X	99662593	99662593	T	A	PCDH19	c.1003A>T	NM_001184880.2	NP_001171809.1:p.(Ser335Cys)	NC_000023.10:g.99662593T>A	VUS	1 lab	70650060c3
3:25777616 NGLY1 G>A	3	25777616	25777616	G	A	NGLY1	c.1028C>T	NM_018297.4	NP_060767.2:p.(Ser343Phe)	NC_000003.11:g.25777616G>A	VUS	1 lab	70679c9813
5:37057303 NIPBL A>G	5	37057303	37057303	A	G	NIPBL	c.7279A>G	NM_133433.4	NP_597677.2:p.(Met2427Val)	NC_000005.9:g.37057303A>G	(Likely) benign	1 lab	706c564e3f
2:179470276 TTN G>A	2	179470276	179470276	G	A	TTN	c.53746C>T	NM_001267550.2	NP_001254479.2:p.(Leu17916Phe)	NC_000002.11:g.179470276G>A	(Likely) benign	1 lab	706cf2ec3d
15:89383275 ACAN C>T	15	89383275	89383275	C	T	ACAN	c.487C>T	NM_001369268.1	NP_001356197.1:p.(Arg163Cys)	NC_000015.9:g.89383275C>T	VUS	1 lab	706f6c7054
13:45911615 SNORA31 AG>A	13	45911615	45911616	AG	A	SNORA31	n.129del	NR_002967.1		NC_000013.10:g.45911616del	VUS	1 lab	22c70d69d0
17:41244337 BRCA1 C>A	17	41244337	41244337	C	A	BRCA1	c.3211G>T	NM_007294.4	NP_009225.1:p.(Glu1071Ter)	NC_000017.10:g.41244337C>A	(Likely) pathogenic	1 lab	7070af574a
1:230410317 GALNT2 C>T	1	230410317	230410317	C	T	GALNT2	c.1560+7C>T	NM_004481.5	NP_004472.1:p.?	NC_000001.10:g.230410317C>T	VUS	1 lab	7071927e85
18:31324898 ASXL3 G>A	18	31324898	31324898	G	A	ASXL3	c.5086G>A	NM_030632.3	NP_085135.1:p.(Ala1696Thr)	NC_000018.9:g.31324898G>A	(Likely) benign	1 lab	7072d56400
4:5624714 EVC2 C>T	4	5624714	5624714	C	T	EVC2	c.2051G>A	NM_147127.5	NP_667338.3:p.(Arg684Lys)	NC_000004.11:g.5624714C>T	VUS	1 lab	70c7faf5ed
22:18567920 PEX26 G>A	22	18567920	18567920	G	A	PEX26	c.710G>A	NM_001127649.3	NP_001121121.1:p.(Arg237His)	NC_000022.10:g.18567920G>A	VUS	1 lab	70752afcc8
X:151935790 MAGEA6 G>A	X	151935790	151935790	G	A	MAGEA6	c.377C>T	NM_005363.5	NP_005354.1:p.(Ala126Val)	NC_000023.10:g.151935790G>A	(Likely) benign	1 lab	7076399ce3
14:31819008 HEATR5A C>T	14	31819008	31819008	C	T	HEATR5A	c.2695G>A	NM_015473.4	NP_056288.2:p.(Val899Ile)	NC_000014.8:g.31819008C>T	(Likely) benign	1 lab	707678170d
X:25031291 ARX A>G	X	25031291	25031291	A	G	ARX	c.821T>C	NM_139058.3	NP_620689.1:p.(Val274Ala)	NC_000023.10:g.25031291A>G	VUS	1 lab	70da2903c3
3:44598609 ZKSCAN7 C>T	3	44598609	44598609	C	T	ZKSCAN7	c.70C>T	NM_001288590.2	NP_001275519.1:p.(Arg24Cys)	NC_000003.11:g.44598609C>T	(Likely) benign	1 lab	7078f7beee
X:71131119 NHSL2 T>TGGGGCGCCGCACAGACAGCCTGTACC	X	71131119	71131147	T	TGGGGCGCCGCACAGACAGCCTGTACC	NHSL2	c.185_210dup	NM_001013627.3	NP_001013649.2:p.(Arg71GlyfsTer32)	NC_000023.10:g.71131122_71131147dup	VUS	1 lab	70795a6b38
12:114823320 TBX5 C>T	12	114823320	114823320	C	T	TBX5	c.716G>A	NM_181486.4	NP_852259.1:p.(Ser239Asn)	NC_000012.11:g.114823320C>T	VUS	1 lab	70798a96f8
1:11217248 MTOR A>G	1	11217248	11217248	A	G	MTOR	c.4430T>C	NM_004958.4	NP_004949.1:p.(Met1477Thr)	NC_000001.10:g.11217248A>G	VUS	1 lab	7079f690cb
20:44048065 PIGT C>CG	20	44048065	44048071	C	CG	PIGT	c.594+36dup	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44048071dup	(Likely) benign	1 lab	22c79d6712
17:34416063 CCL3 C>A	17	34416063	34416063	C	A	CCL3	c.234G>T	NM_002983.3	NP_002974.1:p.(Glu78Asp)	NC_000017.10:g.34416063C>A	(Likely) benign	1 lab	707bd03aa9
19:4452428 UBXN6 C>G	19	4452428	4452428	C	G	UBXN6	c.374G>C	NM_025241.3	NP_079517.1:p.(Cys125Ser)	NC_000019.9:g.4452428C>G	VUS	1 lab	707c22be91
3:33114063 GLB1 T>C	3	33114063	33114063	T	C	GLB1	c.218A>G	NM_000404.4	NP_000395.3:p.(Lys73Arg)	NC_000003.11:g.33114063T>C	(Likely) benign	1 lab	707d6811b0
9:140846786 CACNA1B G>A	9	140846786	140846786	G	A	CACNA1B	c.1027G>A	NM_000718.4	NP_000709.1:p.(Gly343Ser)	NC_000009.11:g.140846786G>A	VUS	1 lab	707d8ff3f1
6:152734532 SYNE1 C>T	6	152734532	152734532	C	T	SYNE1	c.6185G>A	NM_182961.4	NP_892006.3:p.(Arg2062His)	NC_000006.11:g.152734532C>T	VUS	1 lab	707eb98b90
16:30387480 MYL11 C>G	16	30387480	30387480	C	G	MYL11	c.111C>G	NM_013292.5	NP_037424.2:p.(Ile37Met)	NC_000016.9:g.30387480C>G	VUS	1 lab	7112cbb3ae
19:18900928 COMP G>C	19	18900928	18900928	G	C	COMP	c.218-5C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900928G>C	(Likely) benign	1 lab	707ee39a0b
11:113699945 USP28 C>T	11	113699945	113699945	C	T	USP28	c.1033G>A	NM_001346252.4	NP_001333181.1:p.(Asp345Asn)	NC_000011.9:g.113699945C>T	VUS	1 lab	707f2f363f
6:29641216 ZFP57 C>T	6	29641216	29641216	C	T	ZFP57	c.672G>A	NM_001109809.5	NP_001103279.2:p.(Met224Ile)	NC_000006.11:g.29641216C>T	VUS	1 lab	707f40bcf6
2:25972696 ASXL2 C>A	2	25972696	25972696	C	A	ASXL2	c.1729G>T	NM_018263.6	NP_060733.4:p.(Ala577Ser)	NC_000002.11:g.25972696C>A	(Likely) benign	1 lab	707fda7ff1
10:31809248 ZEB1 C>T	10	31809248	31809248	C	T	ZEB1	c.988C>T	NM_001174096.2	NP_001167567.1:p.(Arg330Trp)	NC_000010.10:g.31809248C>T	VUS	1 lab	708091c1a9
2:179560833 TTN G>A	2	179560833	179560833	G	A	TTN	c.30966C>T	NM_001267550.2	NP_001254479.2:p.(Asp10322=)	NC_000002.11:g.179560833G>A	VUS	1 lab	7080bc9fbb
X:40456565 ATP6AP2 C>T	X	40456565	40456565	C	T	ATP6AP2	c.365C>T	NM_005765.3	NP_005756.2:p.(Pro122Leu)	NC_000023.10:g.40456565C>T	VUS	1 lab	70821a0626
16:75574019 TMEM231 C>G	16	75574019	75574019	C	G	TMEM231	c.824G>C	NM_001077418.3	NP_001070886.1:p.(Ser275Thr)	NC_000016.9:g.75574019C>G	VUS	1 lab	70822726e3
19:12923974 RNASEH2A C>T	19	12923974	12923974	C	T	RNASEH2A	c.715C>T	NM_006397.3	NP_006388.2:p.(Arg239Cys)	NC_000019.9:g.12923974C>T	VUS	1 lab	708229d214
19:19744988 GMIP C>T	19	19744988	19744988	C	T	GMIP	c.2096G>A	NM_016573.4	NP_057657.2:p.(Arg699Gln)	NC_000019.9:g.19744988C>T	(Likely) benign	1 lab	7082bdc6d3
6:73951894 KHDC1 C>T	6	73951894	73951894	C	T	KHDC1	c.179G>A	NM_030568.5	NP_085045.3:p.(Trp60Ter)	NC_000006.11:g.73951894C>T	VUS	1 lab	7084673c3b
X:142803691 SPANXN2 AT>A	X	142803691	142803699	AT	A	SPANXN2	c.71del	NM_001009615.3	NP_001009615.1:p.(Asn24MetfsTer12)	NC_000023.10:g.142803699del	VUS	1 lab	7085431368
22:42564718 TCF20 G>A	22	42564718	42564718	G	A	TCF20	c.5824C>T	NM_001378418.1	NP_001365347.1:p.(Pro1942Ser)	NC_000022.10:g.42564718G>A	(Likely) benign	1 lab	708560ce98
11:77921466 USP35 AGT>A	11	77921466	77921470	AGT	A	USP35	c.2568_2569del	NM_020798.4	NP_065849.1:p.(Ser857PhefsTer12)	NC_000011.9:g.77921469_77921470del	VUS	1 lab	7085e68023
6:159672511 FNDC1 A>T	6	159672511	159672511	A	T	FNDC1	c.5012A>T	NM_032532.3	NP_115921.2:p.(His1671Leu)	NC_000006.11:g.159672511A>T	VUS	1 lab	7086462ded
7:102940652 PMPCB C>A	7	102940652	102940652	C	A	PMPCB	c.355C>A	NM_004279.3	NP_004270.2:p.(Leu119Met)	NC_000007.13:g.102940652C>A	VUS	1 lab	70867af80e
6:32009663 TNXB C>T	6	32009663	32009663	C	T	TNXB	c.12518G>A	NM_001365276.2	NP_001352205.1:p.(Arg4173Gln)	NC_000006.11:g.32009663C>T	VUS	1 lab	7088e87856
3:41267068 CTNNB1 G>A	3	41267068	41267068	G	A	CTNNB1	c.734+5G>A	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41267068G>A	VUS	1 lab	708af2e47a
15:60806851 RORA A>G	15	60806851	60806851	A	G	RORA	c.388T>C	NM_134261.3	NP_599023.1:p.(Leu130=)	NC_000015.9:g.60806851A>G	(Likely) benign	1 lab	708ca51d6e
9:109736473 ZNF462 C>T	9	109736473	109736473	C	T	ZNF462	c.6751C>T	NM_021224.6	NP_067047.4:p.(Pro2251Ser)	NC_000009.11:g.109736473C>T	VUS	1 lab	708de94aed
2:216908736 PECR G>C	2	216908736	216908736	G	C	PECR	c.717C>G	NM_018441.6	NP_060911.2:p.(Val239=)	NC_000002.11:g.216908736G>C	(Likely) benign	1 lab	7090673db7
9:5073681 JAK2 CT>C	9	5073681	5073691	CT	C	JAK2	c.1777-7del	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5073691del	(Likely) benign	1 lab	7091e8efc0
19:49484835 GYS1 T>C	19	49484835	49484835	T	C	GYS1	c.1121A>G	NM_002103.5	NP_002094.2:p.(Asn374Ser)	NC_000019.9:g.49484835T>C	VUS	1 lab	70934007ff
1:16261922 SPEN C>T	1	16261922	16261922	C	T	SPEN	c.9187C>T	NM_015001.3	NP_055816.2:p.(Pro3063Ser)	NC_000001.10:g.16261922C>T	(Likely) benign	1 lab	70944bf63c
14:20851400 TEP1 G>C	14	20851400	20851400	G	C	TEP1	c.3980C>G	NM_007110.5	NP_009041.2:p.(Ala1327Gly)	NC_000014.8:g.20851400G>C	(Likely) benign	1 lab	70947772f3
12:110230485 TRPV4 G>T	12	110230485	110230485	G	T	TRPV4	c.1796C>A	NM_021625.5	NP_067638.3:p.(Thr599Lys)	NC_000012.11:g.110230485G>T	VUS	1 lab	709543665f
1:157556159 FCRL4 C>T	1	157556159	157556159	C	T	FCRL4	c.934G>A	NM_031282.3	NP_112572.1:p.(Val312Met)	NC_000001.10:g.157556159C>T	VUS	1 lab	7095751455
11:108150302 ATM A>G	11	108150302	108150302	A	G	ATM	c.3369A>G	NM_000051.4	NP_000042.3:p.(Ala1123=)	NC_000011.9:g.108150302A>G	(Likely) benign	1 lab	7097355c2a
2:25467088 DNMT3A C>T	2	25467088	25467088	C	T	DNMT3A	c.1787G>A	NM_022552.5	NP_072046.2:p.(Arg596Gln)	NC_000002.11:g.25467088C>T	(Likely) benign	1 lab	7097385bc3
19:13008644 GCDH G>A	19	13008644	13008644	G	A	GCDH	c.1210G>A	NM_000159.4	NP_000150.1:p.(Ala404Thr)	NC_000019.9:g.13008644G>A	VUS	1 lab	70974f85aa
20:21687663 PAX1 G>T	20	21687663	21687663	G	T	PAX1	c.874G>T	NM_001257096.2	NP_001244025.1:p.(Val292Phe)	NC_000020.10:g.21687663G>T	VUS	1 lab	70986b46fe
14:75563805 NEK9 A>G	14	75563805	75563805	A	G	NEK9	c.2171T>C	NM_033116.6	NP_149107.4:p.(Val724Ala)	NC_000014.8:g.75563805A>G	VUS	1 lab	7098a68960
2:61244925 PEX13 C>G	2	61244925	61244925	C	G	PEX13	c.31C>G	NM_002618.4	NP_002609.1:p.(Pro11Ala)	NC_000002.11:g.61244925C>G	VUS	1 lab	7099c9647f
5:98193990 CHD1 G>A	5	98193990	98193990	G	A	CHD1	c.4681C>T	NM_001270.4	NP_001261.2:p.(His1561Tyr)	NC_000005.9:g.98193990G>A	(Likely) benign	1 lab	22cade720a
16:81934293 PLCG2 G>A	16	81934293	81934293	G	A	PLCG2	c.1270G>A	NM_002661.5	NP_002652.2:p.(Val424Ile)	NC_000016.9:g.81934293G>A	(Likely) benign	1 lab	709c26f9d8
X:48760708 SLC35A2 C>G	X	48760708	48760708	C	G	SLC35A2	c.*7G>C	NM_005660.3	NP_005651.1:p.?	NC_000023.10:g.48760708C>G	VUS	1 lab	709cb0fb01
12:122295253 HPD T>C	12	122295253	122295253	T	C	HPD	c.179A>G	NM_002150.3	NP_002141.2:p.(His60Arg)	NC_000012.11:g.122295253T>C	VUS	1 lab	709d24a8d0
2:74462286 SLC4A5 C>T	2	74462286	74462286	C	T	SLC4A5	c.2375G>A	NM_133478.3	NP_597812.1:p.(Gly792Glu)	NC_000002.11:g.74462286C>T	(Likely) benign	1 lab	709d5c19db
X:49041069 PRICKLE3 G>A	X	49041069	49041069	G	A	PRICKLE3	c.128+9C>T	NM_006150.5	NP_006141.2:p.?	NC_000023.10:g.49041069G>A	(Likely) benign	1 lab	709eb6b1fa
6:157099339 ARID1B C>A	6	157099339	157099339	C	A	ARID1B	c.525C>A	NM_001374828.1	NP_001361757.1:p.(His175Gln)	NC_000006.11:g.157099339C>A	VUS	1 lab	709ebef7a9
17:41719288 MEOX1 C>T	17	41719288	41719288	C	T	MEOX1	c.755G>A	NM_004527.4	NP_004518.1:p.(Ser252Asn)	NC_000017.10:g.41719288C>T	VUS	1 lab	709f00043b
12:96387718 HAL A>G	12	96387718	96387718	A	G	HAL	c.470T>C	NM_002108.4	NP_002099.1:p.(Ile157Thr)	NC_000012.11:g.96387718A>G	(Likely) benign	1 lab	709f945f00
3:111427207 PLCXD2 C>T	3	111427207	111427207	C	T	PLCXD2	c.598C>T	NM_001413064.1	NP_001399993.1:p.(Arg200Ter)	NC_000003.11:g.111427207C>T	VUS	1 lab	709ff69a95
5:11082411 CTNND2 A>T	5	11082411	11082411	A	T	CTNND2	c.2788+397T>A	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11082411A>T	(Likely) benign	1 lab	70a1762c59
17:42990697 GFAP C>A	17	42990697	42990697	C	A	GFAP	c.720G>T	NM_002055.5	NP_002046.1:p.(Thr240=)	NC_000017.10:g.42990697C>A	(Likely) benign	1 lab	70a27ece51
16:29675992 SPN G>A	16	29675992	29675992	G	A	SPN	c.943G>A	NM_003123.6	NP_003114.1:p.(Val315Met)	NC_000016.9:g.29675992G>A	VUS	1 lab	70a3d3d9ba
3:25639964 TOP2B G>A	3	25639964	25639964	G	A	TOP2B	c.4700C>T	NM_001068.3	NP_001059.2:p.(Pro1567Leu)	NC_000003.11:g.25639964G>A	(Likely) benign	1 lab	24105ded48
2:50758373 NRXN1 A>T	2	50758373	50758373	A	T	NRXN1	c.2339T>A	NM_001330078.2	NP_001317007.1:p.(Val780Asp)	NC_000002.11:g.50758373A>T	VUS	1 lab	70a51b624c
5:60839470 ZSWIM6 C>G	5	60839470	60839470	C	G	ZSWIM6	c.2974C>G	NM_020928.2	NP_065979.1:p.(Pro992Ala)	NC_000005.9:g.60839470C>G	VUS	1 lab	70a532c1ec
16:30078878 ALDOA A>C	16	30078878	30078878	A	C	ALDOA	c.382A>C	NM_001243177.4	NP_001230106.1:p.(Ile128Leu)	NC_000016.9:g.30078878A>C	VUS	1 lab	70a53b6e76
1:208200677 PLXNA2 C>T	1	208200677	208200677	C	T	PLXNA2	c.5596G>A	NM_025179.4	NP_079455.3:p.(Gly1866Arg)	NC_000001.10:g.208200677C>T	VUS	1 lab	70a59f39e7
9:2086604 SMARCA2 G>A	9	2086604	2086604	G	A	SMARCA2	c.2527-225G>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2086604G>A	(Likely) benign	1 lab	70a64cc777
15:100821445 ADAMTS17 C>T	15	100821445	100821445	C	T	ADAMTS17	c.778G>A	NM_139057.4	NP_620688.2:p.(Val260Ile)	NC_000015.9:g.100821445C>T	VUS	1 lab	70a6dfb0f7
1:200969906 KIF21B C>A	1	200969906	200969906	C	A	KIF21B	c.1405G>T	NM_001252102.2	NP_001239031.1:p.(Asp469Tyr)	NC_000001.10:g.200969906C>A	VUS	1 lab	70a8e96c40
19:51870712 CLDND2 C>T	19	51870712	51870712	C	T	CLDND2	c.429G>A	NM_152353.3	NP_689566.1:p.(Ala143=)	NC_000019.9:g.51870712C>T	(Likely) benign	1 lab	70a9f48f66
19:36224112 KMT2B C>G	19	36224112	36224112	C	G	KMT2B	c.6662C>G	NM_014727.3	NP_055542.1:p.(Pro2221Arg)	NC_000019.9:g.36224112C>G	VUS	1 lab	70ab03063d
10:135122319 TUBGCP2 G>C	10	135122319	135122319	G	C	TUBGCP2	c.-40+8C>G	NM_006659.4	NP_006650.1:p.?	NC_000010.10:g.135122319G>C	(Likely) benign	1 lab	70aca12818
4:126411653 FAT4 C>A	4	126411653	126411653	C	A	FAT4	c.13682C>A	NM_001291303.3	NP_001278232.1:p.(Pro4561His)	NC_000004.11:g.126411653C>A	VUS	1 lab	70ad069ebb
7:128034631 IMPDH1 C>T	7	128034631	128034631	C	T	IMPDH1	c.1573G>A	NM_000883.4	NP_000874.2:p.(Ala525Thr)	NC_000007.13:g.128034631C>T	(Likely) benign	1 lab	70ad77c243
7:94047048 COL1A2 G>A	7	94047048	94047048	G	A	COL1A2	c.1876G>A	NM_000089.4	NP_000080.2:p.(Val626Met)	NC_000007.13:g.94047048G>A	(Likely) benign	1 lab	70af9a3293
9:133303802 HMCN2 A>G	9	133303802	133303802	A	G	HMCN2	c.14123A>G	NM_001291815.2	NP_001278744.1:p.(Asn4708Ser)	NC_000009.11:g.133303802A>G	VUS	1 lab	70b1a084c5
20:2381002 TGM6 G>A	20	2381002	2381002	G	A	TGM6	c.901G>A	NM_198994.3	NP_945345.2:p.(Ala301Thr)	NC_000020.10:g.2381002G>A	VUS	1 lab	22cd9761fa
9:39171462 CNTNAP3 G>A	9	39171462	39171462	G	A	CNTNAP3	c.1237C>T	NM_033655.5	NP_387504.2:p.(Arg413Ter)	NC_000009.11:g.39171462G>A	VUS	1 lab	70b2c34210
1:43905450 SZT2 C>T	1	43905450	43905450	C	T	SZT2	c.7042+10C>T	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43905450C>T	(Likely) benign	1 lab	70b2e8ffa5
18:28914166 DSG1 G>T	18	28914166	28914166	G	T	DSG1	c.1005+1G>T	NM_001942.4	NP_001933.2:p.?	NC_000018.9:g.28914166G>T	(Likely) pathogenic	1 lab	22cea69af4
6:42906325 CNPY3 G>T	6	42906325	42906325	G	T	CNPY3	c.633G>T	NM_006586.5	NP_006577.2:p.(Trp211Cys)	NC_000006.11:g.42906325G>T	VUS	1 lab	70ea88dd71
1:55352556 DHCR24 G>A	1	55352556	55352556	G	A	DHCR24	c.231+6C>T	NM_014762.4	NP_055577.1:p.?	NC_000001.10:g.55352556G>A	(Likely) benign	1 lab	70b4b19f84
8:42151058 IKBKB G>A	8	42151058	42151058	G	A	IKBKB	c.388+28G>A	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42151058G>A	VUS	1 lab	70b6141631
3:12629109 RAF1 A>G	3	12629109	12629109	A	G	RAF1	c.1398T>C	NM_002880.4	NP_002871.1:p.(His466=)	NC_000003.11:g.12629109A>G	(Likely) benign	1 lab	70b6a7c926
21:47422641 COL6A1 C>T	21	47422641	47422641	C	T	COL6A1	c.2434+17C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422641C>T	(Likely) benign	1 lab	70b8bbbae6
12:66308896 HMGA2 A>G	12	66308896	66308896	A	G	HMGA2	c.250-36267A>G	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66308896A>G	(Likely) benign	1 lab	70b8e1f94c
19:30935448 ZNF536 G>T	19	30935448	30935448	G	T	ZNF536	c.979G>T	NM_014717.3	NP_055532.1:p.(Glu327Ter)	NC_000019.9:g.30935448G>T	VUS	1 lab	70b96e85fb
11:64480916 NRXN2 G>T	11	64480916	64480916	G	T	NRXN2	c.256C>A	NM_015080.4	NP_055895.1:p.(Arg86Ser)	NC_000011.9:g.64480916G>T	(Likely) benign	1 lab	70ba86d30c
2:20192876 MATN3 C>T	2	20192876	20192876	C	T	MATN3	c.1457G>A	NM_002381.5	NP_002372.1:p.(Arg486His)	NC_000002.11:g.20192876C>T	(Likely) benign	1 lab	70bcefbe6c
3:78700986 ROBO1 A>G	3	78700986	78700986	A	G	ROBO1	c.2708T>C	NM_002941.4	NP_002932.1:p.(Ile903Thr)	NC_000003.11:g.78700986A>G	VUS	1 lab	70bde23b02
6:73332021 KCNQ5 G>A	6	73332021	73332021	G	A	KCNQ5	c.104G>A	NM_019842.4	NP_062816.2:p.(Gly35Asp)	NC_000006.11:g.73332021G>A	VUS	1 lab	70c039dcc7
1:236228372 NID1 G>A	1	236228372	236228372	G	A	NID1	c.8C>T	NM_002508.3	NP_002499.2:p.(Ala3Val)	NC_000001.10:g.236228372G>A	(Likely) benign	1 lab	70c1dd18e8
8:145738752 RECQL4 G>A	8	145738752	145738752	G	A	RECQL4	c.2312C>T	NM_004260.4	NP_004251.4:p.(Thr771Met)	NC_000008.10:g.145738752G>A	VUS	1 lab	70c2d9f925
X:106185951 MORC4 C>T	X	106185951	106185951	C	T	MORC4	c.2170G>A	NM_024657.5	NP_078933.3:p.(Ala724Thr)	NC_000023.10:g.106185951C>T	(Likely) benign	1 lab	70c4d13567
22:42209312 CCDC134 G>A	22	42209312	42209312	G	A	CCDC134	c.355G>A	NM_024821.4	NP_079097.1:p.(Val119Met)	NC_000022.10:g.42209312G>A	VUS	1 lab	70c6c75413
17:59760914 BRIP1 T>G	17	59760914	59760914	T	G	BRIP1	c.3493A>C	NM_032043.3	NP_114432.2:p.(Ile1165Leu)	NC_000017.10:g.59760914T>G	VUS	1 lab	70c74202ae
1:156907026 ARHGEF11 CCCTGCTT>C	1	156907026	156907035	CCCTGCTT	C	ARHGEF11	c.4440+8_4440+14del	NM_198236.3	NP_937879.1:p.?	NC_000001.10:g.156907029_156907035del	(Likely) benign	1 lab	70ca4789a2
8:145003892 PLEC C>T	8	145003892	145003892	C	T	PLEC	c.2845G>A	NM_201384.3	NP_958786.1:p.(Glu949Lys)	NC_000008.10:g.145003892C>T	VUS	1 lab	70cac8d912
2:152507075 NEB A>C	2	152507075	152507075	A	C	NEB	c.7227+13T>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152507075A>C	(Likely) benign	1 lab	70cad96ce4
X:70626532 TAF1 A>C	X	70626532	70626532	A	C	TAF1	c.4043A>C	NM_001286074.2	NP_001273003.2:p.(Lys1348Thr)	NC_000023.10:g.70626532A>C	VUS	1 lab	22d101a7df
X:70679420 TAF1 G>A	X	70679420	70679420	G	A	TAF1	c.5083G>A	NM_004606.5	NP_004597.3:p.(Gly1695Ser)	NC_000023.10:g.70679420G>A	VUS	1 lab	70d19459f2
2:32323943 SPAST A>G	2	32323943	32323943	A	G	SPAST	c.665A>G	NM_014946.4	NP_055761.2:p.(Asn222Ser)	NC_000002.11:g.32323943A>G	VUS	1 lab	70d3175deb
16:70190514 PDPR G>A	16	70190514	70190514	G	A	PDPR	c.2372G>A	NM_017990.5	NP_060460.4:p.(Arg791Gln)	NC_000016.9:g.70190514G>A	(Likely) benign	1 lab	70d3556e5a
11:67816463 TCIRG1 G>C	11	67816463	67816463	G	C	TCIRG1	c.1672G>C	NM_006019.4	NP_006010.2:p.(Val558Leu)	NC_000011.9:g.67816463G>C	(Likely) benign	1 lab	70d4968a1e
7:151860688 KMT2C C>A	7	151860688	151860688	C	A	KMT2C	c.9974G>T	NM_170606.3	NP_733751.2:p.(Ser3325Ile)	NC_000007.13:g.151860688C>A	(Likely) benign	1 lab	70d61c514d
2:129075939 HS6ST1 T>A	2	129075939	129075939	T	A	HS6ST1	c.199A>T	NM_004807.3	NP_004798.3:p.(Lys67Ter)	NC_000002.11:g.129075939T>A	(Likely) benign	1 lab	70d6737f69
17:38925221 KRT26 T>TA	17	38925221	38925222	T	TA	KRT26	c.1096_1097insT	NM_181539.5	NP_853517.2:p.(Gln366LeufsTer6)	NC_000017.10:g.38925221_38925222insA	VUS	1 lab	70d6acac1d
2:25314269 EFR3B A>T	2	25314269	25314269	A	T	EFR3B	c.83A>T	NM_014971.2	NP_055786.1:p.(Glu28Val)	NC_000002.11:g.25314269A>T	VUS	1 lab	70d7c53937
4:6622975 MAN2B2 A>G	4	6622975	6622975	A	G	MAN2B2	c.2993A>G	NM_015274.3	NP_056089.1:p.(Glu998Gly)	NC_000004.11:g.6622975A>G	VUS	1 lab	714a761570
X:72673399 CDX4 T>G	X	72673399	72673399	T	G	CDX4	c.549T>G	NM_005193.2	NP_005184.1:p.(His183Gln)	NC_000023.10:g.72673399T>G	(Likely) benign	1 lab	70daf007b4
1:27023090 ARID1A C>A	1	27023090	27023090	C	A	ARID1A	c.196C>A	NM_006015.6	NP_006006.3:p.(Pro66Thr)	NC_000001.10:g.27023090C>A	VUS	1 lab	70db2d8f04
5:132272821 AFF4 T>C	5	132272821	132272821	T	C	AFF4	c.61A>G	NM_014423.4	NP_055238.1:p.(Ile21Val)	NC_000005.9:g.132272821T>C	VUS	1 lab	70dc0bf907
19:7184611 INSR G>A	19	7184611	7184611	G	A	INSR	c.690C>T	NM_000208.4	NP_000199.2:p.(Ala230=)	NC_000019.9:g.7184611G>A	(Likely) benign	1 lab	70dc860be4
19:18121080 ARRDC2 C>T	19	18121080	18121080	C	T	ARRDC2	c.925C>T	NM_015683.2	NP_056498.1:p.(Pro309Ser)	NC_000019.9:g.18121080C>T	VUS	1 lab	70ddd4c350
20:60888842 LAMA5 G>A	20	60888842	60888842	G	A	LAMA5	c.8521C>T	NM_005560.6	NP_005551.3:p.(His2841Tyr)	NC_000020.10:g.60888842G>A	(Likely) benign	1 lab	70de859eff
3:23934708 NKIRAS1 CTGT>C	3	23934708	23934711	CTGT	C	NKIRAS1	c.454_456del	NM_020345.4	NP_065078.1:p.(Thr152del)	NC_000003.11:g.23934709_23934711del	VUS	1 lab	70df8a7730
6:152725361 SYNE1 G>A	6	152725361	152725361	G	A	SYNE1	c.6812C>T	NM_182961.4	NP_892006.3:p.(Pro2271Leu)	NC_000006.11:g.152725361G>A	(Likely) benign	1 lab	70e0fdcac0
6:19838350 ID4 C>G	6	19838350	19838350	C	G	ID4	c.365C>G	NM_001546.4	NP_001537.1:p.(Ala122Gly)	NC_000006.11:g.19838350C>G	(Likely) benign	1 lab	70e190df97
10:61958126 ANK3 T>C	10	61958126	61958126	T	C	ANK3	c.1661A>G	NM_020987.5	NP_066267.2:p.(His554Arg)	NC_000010.10:g.61958126T>C	VUS	1 lab	70e1d5dc07
11:134055275 NCAPD3 C>T	11	134055275	134055275	C	T	NCAPD3	c.2192G>A	NM_015261.3	NP_056076.1:p.(Arg731Lys)	NC_000011.9:g.134055275C>T	(Likely) benign	1 lab	70e3e6cfad
4:56233899 SRD5A3 C>A	4	56233899	56233899	C	A	SRD5A3	c.697+10C>A	NM_024592.5	NP_078868.1:p.?	NC_000004.11:g.56233899C>A	(Likely) benign	1 lab	70e64c0322
15:99465574 IGF1R G>A	15	99465574	99465574	G	A	IGF1R	c.2399G>A	NM_000875.5	NP_000866.1:p.(Arg800His)	NC_000015.9:g.99465574G>A	VUS	1 lab	70e8187176
16:83941817 MLYCD G>GTTC	16	83941817	83941820	G	GTTC	MLYCD	c.729_731dup	NM_012213.3	NP_036345.2:p.(Ser244dup)	NC_000016.9:g.83941818_83941820dup	VUS	1 lab	70e86c379b
6:109803174 ZBTB24 T>G	6	109803174	109803174	T	G	ZBTB24	c.56A>C	NM_014797.3	NP_055612.2:p.(His19Pro)	NC_000006.11:g.109803174T>G	VUS	1 lab	70e8c63ae9
19:46271375 SIX5 G>A	19	46271375	46271375	G	A	SIX5	c.728C>T	NM_175875.5	NP_787071.3:p.(Thr243Met)	NC_000019.9:g.46271375G>A	VUS	1 lab	70ec4a221c
17:21319051 KCNJ12 G>A	17	21319051	21319051	G	A	KCNJ12	c.397G>A	NM_021012.5	NP_066292.2:p.(Ala133Thr)	NC_000017.10:g.21319051G>A	(Likely) benign	1 lab	70ed56555f
2:47702270 MSH2 A>G	2	47702270	47702270	A	G	MSH2	c.1866A>G	NM_000251.3	NP_000242.1:p.(Pro622=)	NC_000002.11:g.47702270A>G	VUS	1 lab	70ee0a65ea
17:62029020 SCN4A T>TCTCCCCCGCCTCTCCAGC	17	62029020	62029044	T	TCTCCCCCGCCTCTCCAGC	SCN4A	c.2599_2616dup	NM_000334.4	NP_000325.4:p.(Ala867_Glu872dup)	NC_000017.10:g.62029027_62029044dup	VUS	1 lab	70ee6b1a58
9:131022776 GOLGA2 G>C	9	131022776	131022776	G	C	GOLGA2	c.1726C>G	NM_001366244.2	NP_001353173.2:p.(Leu576Val)	NC_000009.11:g.131022776G>C	(Likely) benign	1 lab	70efc4108c
16:2112553 TSC2 A>G	16	2112553	2112553	A	G	TSC2	c.1313A>G	NM_000548.5	NP_000539.2:p.(Lys438Arg)	NC_000016.9:g.2112553A>G	(Likely) benign	1 lab	70f0eb6e9c
12:53343059 KRT18 C>A	12	53343059	53343059	C	A	KRT18	c.102C>A	NM_000224.3	NP_000215.1:p.(Ser34Arg)	NC_000012.11:g.53343059C>A	(Likely) benign	1 lab	70f3a69991
2:128364817 MYO7B C>T	2	128364817	128364817	C	T	MYO7B	c.2461C>T	NM_001393586.1	NP_001380515.1:p.(Arg821Trp)	NC_000002.11:g.128364817C>T	(Likely) benign	1 lab	70f60b861d
10:97366631 ALDH18A1 G>A	10	97366631	97366631	G	A	ALDH18A1	c.2276C>T	NM_002860.4	NP_002851.2:p.(Thr759Ile)	NC_000010.10:g.97366631G>A	VUS	1 lab	22d31c3b40
9:712804 KANK1 G>T	9	712804	712804	G	T	KANK1	c.2038G>T	NM_015158.5	NP_055973.2:p.(Val680Leu)	NC_000009.11:g.712804G>T	(Likely) benign	1 lab	70f6c88d78
20:61444634 OGFR AGAGCCCATCGG>A	20	61444634	61444645	AGAGCCCATCGG	A	OGFR	c.1668_1678del	NM_007346.4	NP_031372.2:p.(Ser557AspfsTer33)	NC_000020.10:g.61444635_61444645del	VUS	1 lab	70f741faf8
3:81584397 GBE1 T>C	3	81584397	81584397	T	C	GBE1	c.1883A>G	NM_000158.4	NP_000149.4:p.(His628Arg)	NC_000003.11:g.81584397T>C	VUS	1 lab	70f7c4a0bf
11:64022222 PLCB3 G>A	11	64022222	64022222	G	A	PLCB3	c.180G>A	NM_000932.5	NP_000923.1:p.(Glu60=)	NC_000011.9:g.64022222G>A	VUS	1 lab	70f8801ce3
19:15303329 NOTCH3 A>G	19	15303329	15303329	A	G	NOTCH3	c.199T>C	NM_000435.3	NP_000426.2:p.(Cys67Arg)	NC_000019.9:g.15303329A>G	(Likely) pathogenic	1 lab	70f991dad1
4:87028515 MAPK10 T>C	4	87028515	87028515	T	C	MAPK10	c.237-10A>G	NM_138982.4	NP_620448.1:p.?	NC_000004.11:g.87028515T>C	(Likely) benign	1 lab	70fa5cf5af
16:2152507 PKD1 G>C	16	2152507	2152507	G	C	PKD1	c.9076C>G	NM_001009944.3	NP_001009944.3:p.(Arg3026Gly)	NC_000016.9:g.2152507G>C	VUS	1 lab	70fac0045d
10:27303463 ANKRD26 C>T	10	27303463	27303463	C	T	ANKRD26	c.4684G>A	NM_014915.3	NP_055730.2:p.(Glu1562Lys)	NC_000010.10:g.27303463C>T	(Likely) benign	1 lab	70fbc0292c
6:144128231 PHACTR2 C>T	6	144128231	144128231	C	T	PHACTR2	c.1883C>T	NM_001100164.2	NP_001093634.1:p.(Thr628Ile)	NC_000006.11:g.144128231C>T	(Likely) benign	1 lab	70fd5d0572
19:8206847 FBN3 T>C	19	8206847	8206847	T	C	FBN3	c.716A>G	NM_032447.5	NP_115823.3:p.(Asn239Ser)	NC_000019.9:g.8206847T>C	(Likely) benign	1 lab	70fd72fb8a
12:88486575 CEP290 T>G	12	88486575	88486575	T	G	CEP290	c.3344A>C	NM_025114.4	NP_079390.3:p.(Glu1115Ala)	NC_000012.11:g.88486575T>G	VUS	1 lab	70fded5876
X:77245274 ATP7A A>G	X	77245274	77245274	A	G	ATP7A	c.1156A>G	NM_000052.7	NP_000043.4:p.(Met386Val)	NC_000023.10:g.77245274A>G	(Likely) benign	1 lab	22d4ddbde7
16:3820667 CREBBP C>T	16	3820667	3820667	C	T	CREBBP	c.2784G>A	NM_004380.3	NP_004371.2:p.(Pro928=)	NC_000016.9:g.3820667C>T	(Likely) benign	1 lab	719a530b54
1:22198822 HSPG2 T>C	1	22198822	22198822	T	C	HSPG2	c.4078A>G	NM_005529.7	NP_005520.4:p.(Asn1360Asp)	NC_000001.10:g.22198822T>C	VUS	1 lab	7100ae49a2
2:61633003 USP34 A>T	2	61633003	61633003	A	T	USP34	c.392T>A	NM_014709.4	NP_055524.3:p.(Ile131Asn)	NC_000002.11:g.61633003A>T	VUS	1 lab	71013368d7
X:47040983 RBM10 C>T	X	47040983	47040983	C	T	RBM10	c.1513C>T	NM_005676.5	NP_005667.2:p.(Pro505Ser)	NC_000023.10:g.47040983C>T	(Likely) benign	1 lab	7102174edf
12:113600827 DDX54 C>T	12	113600827	113600827	C	T	DDX54	c.2105G>A	NM_024072.4	NP_076977.3:p.(Gly702Glu)	NC_000012.11:g.113600827C>T	(Likely) benign	1 lab	71030aa858
5:180276718 ZFP62 C>T	5	180276718	180276718	C	T	ZFP62	c.1777G>A	NM_001172638.2	NP_001166109.1:p.(Glu593Lys)	NC_000005.9:g.180276718C>T	VUS	1 lab	7104a11b4e
X:148564335 IDS T>C	X	148564335	148564335	T	C	IDS	c.1595A>G	NM_000202.8	NP_000193.1:p.(Asp532Gly)	NC_000023.10:g.148564335T>C	VUS	1 lab	710691637f
X:140995648 MAGEC1 T>C	X	140995648	140995648	T	C	MAGEC1	c.2458T>C	NM_005462.5	NP_005453.2:p.(Ser820Pro)	NC_000023.10:g.140995648T>C	VUS	1 lab	7108beede8
18:197679 USP14 G>A	18	197679	197679	G	A	USP14	c.658G>A	NM_005151.4	NP_005142.1:p.(Asp220Asn)	NC_000018.9:g.197679G>A	(Likely) benign	1 lab	710c25a9cf
14:50269414 NEMF T>C	14	50269414	50269414	T	C	NEMF	c.1947A>G	NM_004713.6	NP_004704.3:p.(Leu649=)	NC_000014.8:g.50269414T>C	(Likely) benign	1 lab	710c666f6c
X:115304463 AGTR2 C>A	X	115304463	115304463	C	A	AGTR2	c.930C>A	NM_000686.5	NP_000677.2:p.(Asn310Lys)	NC_000023.10:g.115304463C>A	VUS	1 lab	710e80c271
6:109283294 ARMC2 G>C	6	109283294	109283294	G	C	ARMC2	c.2116G>C	NM_032131.6	NP_115507.4:p.(Asp706His)	NC_000006.11:g.109283294G>C	(Likely) benign	1 lab	7110365d7c
3:58154200 FLNB G>A	3	58154200	58154200	G	A	FLNB	c.7232G>A	NM_001457.4	NP_001448.2:p.(Arg2411Gln)	NC_000003.11:g.58154200G>A	(Likely) benign	1 lab	71121aa41d
16:47628134 PHKB G>T	16	47628134	47628134	G	T	PHKB	c.1204+9G>T	NM_000293.3	NP_000284.1:p.?	NC_000016.9:g.47628134G>T	(Likely) benign	1 lab	7112d6b321
X:135862977 ARHGEF6 T>C	X	135862977	135862977	T	C	ARHGEF6	c.65A>G	NM_004840.3	NP_004831.1:p.(Lys22Arg)	NC_000023.10:g.135862977T>C	(Likely) benign	1 lab	7120d7c59b
10:69991163 ATOH7 GC>AT	10	69991163	69991164	GC	AT	ATOH7	c.271_272delinsAT	NM_145178.4	NP_660161.1:p.(Ala91Ile)	NC_000010.10:g.69991163_69991164delinsAT	VUS	1 lab	711411d96c
3:9482262 SETD5 G>GA	3	9482262	9482264	G	GA	SETD5	c.692dup	NM_001080517.3	NP_001073986.1:p.(Asn231LysfsTer4)	NC_000003.11:g.9482264dup	(Likely) pathogenic	1 lab	7114129b97
7:92131350 PEX1 A>G	7	92131350	92131350	A	G	PEX1	c.2270T>C	NM_000466.3	NP_000457.1:p.(Leu757Ser)	NC_000007.13:g.92131350A>G	VUS	1 lab	7114e7b45f
12:117274085 RNFT2 C>T	12	117274085	117274085	C	T	RNFT2	c.1198C>T	NM_001382266.1	NP_001369195.1:p.(Gln400Ter)	NC_000012.11:g.117274085C>T	VUS	1 lab	71150219ec
2:179544786 TTN T>C	2	179544786	179544786	T	C	TTN	c.33419-4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544786T>C	VUS	1 lab	7115936f4f
X:67937294 STARD8 A>G	X	67937294	67937294	A	G	STARD8	c.538A>G	NM_001142503.3	NP_001135975.1:p.(Ser180Gly)	NC_000023.10:g.67937294A>G	(Likely) benign	1 lab	71161f27a5
11:67810908 TCIRG1 G>A	11	67810908	67810908	G	A	TCIRG1	c.574G>A	NM_006019.4	NP_006010.2:p.(Gly192Ser)	NC_000011.9:g.67810908G>A	VUS	1 lab	712755d19b
5:176700225 NSD1 A>AG	5	176700225	176700226	A	AG	NSD1	c.5510-448_5510-447insG	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176700225_176700226insG	(Likely) benign	1 lab	71183a5b16
19:42342983 LYPD4 G>A	19	42342983	42342983	G	A	LYPD4	c.183C>T	NM_173506.7	NP_775777.3:p.(Cys61=)	NC_000019.9:g.42342983G>A	VUS	1 lab	711a1fd813
3:147114200 ZIC4 A>C	3	147114200	147114200	A	C	ZIC4	c.127T>G	NM_032153.6	NP_115529.2:p.(Phe43Val)	NC_000003.11:g.147114200A>C	VUS	1 lab	711b082221
22:39995475 CACNA1I T>G	22	39995475	39995475	T	G	CACNA1I	c.349-1050T>G	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.39995475T>G	(Likely) benign	1 lab	711b2d6bf5
18:44627284 KATNAL2 G>A	18	44627284	44627284	G	A	KATNAL2	c.1525G>A	NM_001387690.1	NP_001374619.1:p.(Asp509Asn)	NC_000018.9:g.44627284G>A	(Likely) benign	1 lab	711b54cc77
2:179434784 TTN T>G	2	179434784	179434784	T	G	TTN	c.76075A>C	NM_001267550.2	NP_001254479.2:p.(Ile25359Leu)	NC_000002.11:g.179434784T>G	VUS	1 lab	711d8be4a2
8:145736043 SLC33A2 C>T	8	145736043	145736043	C	T	SLC33A2	c.893C>T	NM_138431.3	NP_612440.1:p.(Thr298Ile)	NC_000008.10:g.145736043C>T	(Likely) benign	1 lab	7120863422
12:6637880 NCAPD2 C>T	12	6637880	6637880	C	T	NCAPD2	c.3335C>T	NM_014865.4	NP_055680.3:p.(Ala1112Val)	NC_000012.11:g.6637880C>T	VUS	1 lab	7121762eb9
2:238275692 COL6A3 C>T	2	238275692	238275692	C	T	COL6A3	c.5138G>A	NM_004369.4	NP_004360.2:p.(Gly1713Glu)	NC_000002.11:g.238275692C>T	VUS	1 lab	7121a0145a
16:68853233 CDH1 C>T	16	68853233	68853233	C	T	CDH1	c.1616C>T	NM_004360.5	NP_004351.1:p.(Thr539Ile)	NC_000016.9:g.68853233C>T	VUS	1 lab	7121ae90c7
19:17397483 ANKLE1 GTGTGTGTGTGTGTGTGTT>G	19	17397483	17397518	GTGTGTGTGTGTGTGTGTT	G	ANKLE1	c.*140_*157del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501_17397518del	(Likely) benign	1 lab	7122a78ccd
3:49570271 DAG1 G>A	3	49570271	49570271	G	A	DAG1	c.2327G>A	NM_004393.6	NP_004384.5:p.(Arg776His)	NC_000003.11:g.49570271G>A	VUS	1 lab	712331e244
16:29851763 MVP G>A	16	29851763	29851763	G	A	MVP	c.1174G>A	NM_005115.5	NP_005106.2:p.(Asp392Asn)	NC_000016.9:g.29851763G>A	VUS	1 lab	7124a0315c
2:121747215 GLI2 G>A	2	121747215	121747215	G	A	GLI2	c.3674G>A	NM_001374353.1	NP_001361282.1:p.(Ser1225Asn)	NC_000002.11:g.121747215G>A	(Likely) benign	1 lab	7127870df8
11:792589 SLC25A22 G>C	11	792589	792589	G	C	SLC25A22	c.551C>G	NM_001191061.2	NP_001177990.1:p.(Ala184Gly)	NC_000011.9:g.792589G>C	VUS	1 lab	71aa29403b
6:7231265 RREB1 C>T	6	7231265	7231265	C	T	RREB1	c.2933C>T	NM_001003699.4	NP_001003699.1:p.(Ser978Phe)	NC_000006.11:g.7231265C>T	(Likely) benign	1 lab	712803c104
8:68188211 ARFGEF1 T>C	8	68188211	68188211	T	C	ARFGEF1	c.1337A>G	NM_006421.5	NP_006412.2:p.(Lys446Arg)	NC_000008.10:g.68188211T>C	VUS	1 lab	71282cdc3a
21:35206630 ITSN1 A>G	21	35206630	35206630	A	G	ITSN1	c.3371A>G	NM_003024.3	NP_003015.2:p.(Gln1124Arg)	NC_000021.8:g.35206630A>G	VUS	1 lab	7128748f7e
X:70601760 TAF1 C>A	X	70601760	70601760	C	A	TAF1	c.1528C>A	NM_004606.5	NP_004597.3:p.(Leu510Ile)	NC_000023.10:g.70601760C>A	VUS	1 lab	7129cea478
11:68478487 TESMIN A>G	11	68478487	68478487	A	G	TESMIN	c.1189T>C	NM_004923.3	NP_004914.2:p.(Cys397Arg)	NC_000011.9:g.68478487A>G	(Likely) benign	1 lab	712a1bdfc9
16:10576102 ATF7IP2 C>T	16	10576102	10576102	C	T	ATF7IP2	c.2045C>T	NM_001393719.1	NP_001380648.1:p.(Thr682Met)	NC_000016.9:g.10576102C>T	(Likely) benign	1 lab	712a26fcc7
19:47884446 DHX34 GAC>G	19	47884446	47884451	GAC	G	DHX34	c.3167_3168del	NM_014681.6	NP_055496.2:p.(Thr1056ArgfsTer31)	NC_000019.9:g.47884450_47884451del	VUS	1 lab	712a8d4833
19:11305186 KANK2 ATCT>A	19	11305186	11305193	ATCT	A	KANK2	c.-2_1del	NM_001136191.3	NP_001129663.1:p.(Met1?)	NC_000019.9:g.11305191_11305193del	(Likely) pathogenic	1 lab	241f2f4b4c
7:101839976 CUX1 C>T	7	101839976	101839976	C	T	CUX1	c.1285C>T	NM_181552.4	NP_853530.2:p.(Pro429Ser)	NC_000007.13:g.101839976C>T	(Likely) benign	1 lab	712ca5662b
5:137721976 KDM3B A>G	5	137721976	137721976	A	G	KDM3B	c.1046A>G	NM_016604.4	NP_057688.3:p.(Gln349Arg)	NC_000005.9:g.137721976A>G	(Likely) benign	1 lab	712e882e15
X:41045860 USP9X G>GT	X	41045860	41045861	G	GT	USP9X	c.3650dup	NM_001039591.3	NP_001034680.2:p.(Ser1218ValfsTer10)	NC_000023.10:g.41045861dup	VUS	1 lab	713137d7bc
8:12286368 FAM86B2 GCCT>G	8	12286368	12286371	GCCT	G	FAM86B2	c.513_515del	NM_001137610.3	NP_001131082.1:p.(Gly172del)	NC_000008.10:g.12286369_12286371del	VUS	1 lab	7131de5574
16:3304239 MEFV G>T	16	3304239	3304239	G	T	MEFV	c.829C>A	NM_000243.2	NP_000234.1:p.(Pro277Thr)	NC_000016.9:g.3304239G>T	VUS	1 lab	24217d5429
13:31789200 B3GLCT C>T	13	31789200	31789200	C	T	B3GLCT	c.83C>T	NM_194318.4	NP_919299.3:p.(Ala28Val)	NC_000013.10:g.31789200C>T	(Likely) benign	1 lab	7133c9bbbd
12:56824665 TIMELESS G>A	12	56824665	56824665	G	A	TIMELESS	c.909C>T	NM_003920.5	NP_003911.2:p.(Asn303=)	NC_000012.11:g.56824665G>A	VUS	1 lab	71351dc3a7
9:140610773 EHMT1 G>GGA	9	140610773	140610775	G	GGA	EHMT1	c.86-304_86-303insAG	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610774_140610775insAG	(Likely) benign	1 lab	7135aaf2df
12:48371388 COL2A1 C>T	12	48371388	48371388	C	T	COL2A1	c.3160G>A	NM_001844.5	NP_001835.3:p.(Val1054Ile)	NC_000012.11:g.48371388C>T	(Likely) benign	1 lab	71384713b4
6:112528289 LAMA4 C>T	6	112528289	112528289	C	T	LAMA4	c.355G>A	NM_001105206.3	NP_001098676.2:p.(Gly119Arg)	NC_000006.11:g.112528289C>T	VUS	1 lab	7138f12682
20:60927083 LAMA5 G>A	20	60927083	60927083	G	A	LAMA5	c.740C>T	NM_005560.6	NP_005551.3:p.(Ser247Leu)	NC_000020.10:g.60927083G>A	VUS	1 lab	713a75d221
17:73612480 MYO15B A>G	17	73612480	73612480	A	G	MYO15B	c.6197A>G	NM_001395058.1	NP_001381987.1:p.(Glu2066Gly)	NC_000017.10:g.73612480A>G	VUS	1 lab	713bc1d636
4:85731354 WDFY3 G>T	4	85731354	85731354	G	T	WDFY3	c.2031C>A	NM_014991.6	NP_055806.2:p.(Asn677Lys)	NC_000004.11:g.85731354G>T	(Likely) benign	1 lab	713e30e791
14:105174975 INF2 C>T	14	105174975	105174975	C	T	INF2	c.1888-33C>T	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105174975C>T	(Likely) benign	1 lab	2427e24bd4
8:22052109 BMP1 T>C	8	22052109	22052109	T	C	BMP1	c.1443+6T>C	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22052109T>C	VUS	1 lab	713e99ee35
10:88992549 NUTM2A C>G	10	88992549	88992549	C	G	NUTM2A	c.1541C>G	NM_001099338.2	NP_001092808.1:p.(Pro514Arg)	NC_000010.10:g.88992549C>G	(Likely) benign	1 lab	7140fd91f6
9:140611423 EHMT1 C>A	9	140611423	140611423	C	A	EHMT1	c.431C>A	NM_024757.5	NP_079033.4:p.(Ala144Asp)	NC_000009.11:g.140611423C>A	VUS	1 lab	71414b310a
17:59483049 TBX2 C>G	17	59483049	59483049	C	G	TBX2	c.1538C>G	NM_005994.4	NP_005985.3:p.(Ala513Gly)	NC_000017.10:g.59483049C>G	VUS	1 lab	71429166e6
8:143958184 CYP11B1 A>AT	8	143958184	143958185	A	AT	CYP11B1	c.712dup	NM_000497.4	NP_000488.3:p.(Met238AsnfsTer21)	NC_000008.10:g.143958185dup	(Likely) pathogenic	1 lab	7143b0b2e5
20:61460842 COL9A3 G>C	20	61460842	61460842	G	C	COL9A3	c.1044G>C	NM_001853.4	NP_001844.3:p.(Lys348Asn)	NC_000020.10:g.61460842G>C	VUS	1 lab	7166552647
2:145255585 ZEB2 T>TTAA	2	145255585	145255588	T	TTAA	ZEB2	c.73+19259_73+19260insTTA	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145255587_145255588insATA	(Likely) benign	1 lab	7143e1b704
22:36696878 MYH9 G>A	22	36696878	36696878	G	A	MYH9	c.2838+19C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36696878G>A	(Likely) benign	1 lab	2428f7ab6d
2:15651396 NBAS T>G	2	15651396	15651396	T	G	NBAS	c.825A>C	NM_015909.4	NP_056993.2:p.(Arg275Ser)	NC_000002.11:g.15651396T>G	VUS	1 lab	7147bc1081
18:43547194 EPG5 C>A	18	43547194	43547194	C	A	EPG5	c.12G>T	NM_020964.3	NP_066015.2:p.(Ala4=)	NC_000018.9:g.43547194C>A	(Likely) benign	1 lab	22d83ec3a6
1:110019457 SYPL2 T>C	1	110019457	110019457	T	C	SYPL2	c.314T>C	NM_001040709.2	NP_001035799.1:p.(Met105Thr)	NC_000001.10:g.110019457T>C	(Likely) benign	1 lab	7149eead9a
11:66476411 SPTBN2 T>C	11	66476411	66476411	T	C	SPTBN2	c.1153A>G	NM_006946.4	NP_008877.2:p.(Thr385Ala)	NC_000011.9:g.66476411T>C	(Likely) benign	1 lab	714ad64d37
2:121736124 GLI2 C>G	2	121736124	121736124	C	G	GLI2	c.1432C>G	NM_001374353.1	NP_001361282.1:p.(Arg478Gly)	NC_000002.11:g.121736124C>G	VUS	1 lab	714c8b8fdc
18:19752027 GATA6 C>T	18	19752027	19752027	C	T	GATA6	c.922C>T	NM_005257.6	NP_005248.2:p.(Pro308Ser)	NC_000018.9:g.19752027C>T	(Likely) benign	1 lab	714fc684e2
3:100029301 TBC1D23 A>G	3	100029301	100029301	A	G	TBC1D23	c.1468A>G	NM_001199198.3	NP_001186127.1:p.(Met490Val)	NC_000003.11:g.100029301A>G	VUS	1 lab	7150605b72
20:62074618 KCNQ2 T>TCAC	20	62074618	62074621	T	TCAC	KCNQ2	c.691-735_691-734insGTG	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62074620_62074621insCCA	(Likely) benign	1 lab	715185aa3b
3:38157940 DLEC1 C>T	3	38157940	38157940	C	T	DLEC1	c.3857-4C>T	NM_007335.4	NP_031361.2:p.?	NC_000003.11:g.38157940C>T	(Likely) benign	1 lab	7154b165eb
16:2138072 TSC2 A>C	16	2138072	2138072	A	C	TSC2	c.5092A>C	NM_000548.5	NP_000539.2:p.(Ser1698Arg)	NC_000016.9:g.2138072A>C	VUS	1 lab	71557f1c69
11:134031768 NCAPD3 T>C	11	134031768	134031768	T	C	NCAPD3	c.3592A>G	NM_015261.3	NP_056076.1:p.(Ile1198Val)	NC_000011.9:g.134031768T>C	(Likely) benign	1 lab	715697fe00
11:69949263 ANO1 C>T	11	69949263	69949263	C	T	ANO1	c.533C>T	NM_018043.7	NP_060513.5:p.(Thr178Met)	NC_000011.9:g.69949263C>T	VUS	1 lab	7157f9967e
9:131114971 SLC27A4 G>A	9	131114971	131114971	G	A	SLC27A4	c.932G>A	NM_005094.4	NP_005085.2:p.(Arg311Gln)	NC_000009.11:g.131114971G>A	VUS	1 lab	7158729e3b
19:11348208 DOCK6 C>T	19	11348208	11348208	C	T	DOCK6	c.1997G>A	NM_020812.4	NP_065863.2:p.(Arg666His)	NC_000019.9:g.11348208C>T	(Likely) benign	1 lab	716735872c
3:57994473 FLNB G>T	3	57994473	57994473	G	T	FLNB	c.182G>T	NM_001457.4	NP_001448.2:p.(Arg61Leu)	NC_000003.11:g.57994473G>T	(Likely) benign	1 lab	7158cc8860
3:9970121 IL17RC C>T	3	9970121	9970121	C	T	IL17RC	c.1010C>T	NM_153460.4	NP_703190.2:p.(Pro337Leu)	NC_000003.11:g.9970121C>T	(Likely) benign	1 lab	7158d06e37
7:31864484 PDE1C G>A	7	31864484	31864484	G	A	PDE1C	c.1403C>T	NM_001191057.4	NP_001177986.1:p.(Ser468Leu)	NC_000007.13:g.31864484G>A	VUS	1 lab	7159f8d31f
11:2187005 TH C>G	11	2187005	2187005	C	G	TH	c.1105-12G>C	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2187005C>G	(Likely) benign	1 lab	715a6297e4
20:44519000 NEURL2 C>T	20	44519000	44519000	C	T	NEURL2	c.631G>A	NM_080749.4	NP_542787.1:p.(Glu211Lys)	NC_000020.10:g.44519000C>T	(Likely) benign	1 lab	715b86f0e0
9:116930076 COL27A1 C>T	9	116930076	116930076	C	T	COL27A1	c.241C>T	NM_032888.4	NP_116277.2:p.(Arg81Trp)	NC_000009.11:g.116930076C>T	VUS	1 lab	715befd91f
20:49508379 ADNP C>T	20	49508379	49508379	C	T	ADNP	c.2872G>A	NM_001282531.3	NP_001269460.1:p.(Asp958Asn)	NC_000020.10:g.49508379C>T	VUS	1 lab	7161baf34d
X:21875509 MBTPS2 C>G	X	21875509	21875509	C	G	MBTPS2	c.670+3888C>G	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21875509C>G	VUS	1 lab	716217cabe
X:111698675 RTL4 A>T	X	111698675	111698675	A	T	RTL4	c.719A>T	NM_001395362.2	NP_001382291.1:p.(Gln240Leu)	NC_000023.10:g.111698675A>T	(Likely) benign	1 lab	716323775a
22:37333823 CSF2RB C>T	22	37333823	37333823	C	T	CSF2RB	c.1973C>T	NM_000395.3	NP_000386.1:p.(Pro658Leu)	NC_000022.10:g.37333823C>T	VUS	1 lab	7165851351
15:55652089 CCPG1 C>G	15	55652089	55652089	C	G	CCPG1	c.1882G>C	NM_001204450.2	NP_001191379.1:p.(Ala628Pro)	NC_000015.9:g.55652089C>G	VUS	1 lab	7165a613d4
20:19955585 RIN2 T>TG	20	19955585	19955586	T	TG	RIN2	c.916_917insG	NM_018993.4	NP_061866.1:p.(Ser306CysfsTer12)	NC_000020.10:g.19955585_19955586insG	(Likely) benign	1 lab	7165f3dcc2
X:47775038 ZNF81 A>G	X	47775038	47775038	A	G	ZNF81	c.993A>G	NM_007137.5	NP_009068.2:p.(Ile331Met)	NC_000023.10:g.47775038A>G	VUS	1 lab	716788a2e9
2:166901612 SCN1A G>A	2	166901612	166901612	G	A	SCN1A	c.1603C>T	NM_001165963.4	NP_001159435.1:p.(Arg535Cys)	NC_000002.11:g.166901612G>A	(Likely) benign	1 lab	71685dbdac
6:17804738 KIF13A T>C	6	17804738	17804738	T	C	KIF13A	c.2308A>G	NM_022113.6	NP_071396.4:p.(Lys770Glu)	NC_000006.11:g.17804738T>C	VUS	1 lab	716b415f0c
11:103022890 DYNC2H1 A>C	11	103022890	103022890	A	C	DYNC2H1	c.2972A>C	NM_001377.3	NP_001368.2:p.(Glu991Ala)	NC_000011.9:g.103022890A>C	VUS	1 lab	716c2b78e2
12:116429160 MED13L C>T	12	116429160	116429160	C	T	MED13L	c.3599G>A	NM_015335.5	NP_056150.1:p.(Arg1200His)	NC_000012.11:g.116429160C>T	VUS	1 lab	716c6f77be
3:114374089 ZBTB20 CTT>C	3	114374089	114374110	CTT	C	ZBTB20	c.-295+38284_-295+38285del	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114374109_114374110del	VUS	1 lab	716c9a92a3
7:100285017 GIGYF1 C>A	7	100285017	100285017	C	A	GIGYF1	c.386G>T	NM_001375765.1	NP_001362694.1:p.(Gly129Val)	NC_000007.13:g.100285017C>A	VUS	1 lab	716d339ccf
12:122295713 HPD G>A	12	122295713	122295713	G	A	HPD	c.43C>T	NM_002150.3	NP_002141.2:p.(Arg15Ter)	NC_000012.11:g.122295713G>A	(Likely) pathogenic	1 lab	22d9ae718e
9:140615743 EHMT1 A>G	9	140615743	140615743	A	G	EHMT1	c.642+4109A>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140615743A>G	(Likely) benign	1 lab	716e406322
12:65115367 GNS C>T	12	65115367	65115367	C	T	GNS	c.1419+8G>A	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65115367C>T	(Likely) benign	1 lab	716eeef6e8
1:3334478 PRDM16 C>G	1	3334478	3334478	C	G	PRDM16	c.2778C>G	NM_022114.4	NP_071397.3:p.(Pro926=)	NC_000001.10:g.3334478C>G	(Likely) benign	1 lab	7172ab834e
X:77275801 ATP7A A>G	X	77275801	77275801	A	G	ATP7A	c.2687A>G	NM_000052.7	NP_000043.4:p.(Gln896Arg)	NC_000023.10:g.77275801A>G	(Likely) benign	1 lab	7173af77ad
3:49142033 QARS1 G>A	3	49142033	49142033	G	A	QARS1	c.117+17C>T	NM_005051.3	NP_005042.1:p.?	NC_000003.11:g.49142033G>A	(Likely) benign	1 lab	242fea094f
17:7107348 DLG4 G>T	17	7107348	7107348	G	T	DLG4	c.189C>A	NM_001321075.3	NP_001308004.1:p.(Tyr63Ter)	NC_000017.10:g.7107348G>T	VUS	1 lab	7177260c38
7:65439412 GUSB C>T	7	65439412	65439412	C	T	GUSB	c.1261G>A	NM_000181.4	NP_000172.2:p.(Val421Ile)	NC_000007.13:g.65439412C>T	VUS	1 lab	7177856f36
6:43488915 POLR1C C>T	6	43488915	43488915	C	T	POLR1C	c.923-5C>T	NM_203290.4	NP_976035.1:p.?	NC_000006.11:g.43488915C>T	(Likely) benign	1 lab	717a21c668
16:70531271 COG4 T>C	16	70531271	70531271	T	C	COG4	c.1334A>G	NM_015386.3	NP_056201.2:p.(Tyr445Cys)	NC_000016.9:g.70531271T>C	(Likely) benign	1 lab	717ca0154f
6:152469377 SYNE1 G>A	6	152469377	152469377	G	A	SYNE1	c.24779C>T	NM_182961.4	NP_892006.3:p.(Ser8260Leu)	NC_000006.11:g.152469377G>A	(Likely) benign	1 lab	717d5c9260
5:13810246 DNAH5 G>A	5	13810246	13810246	G	A	DNAH5	c.7531C>T	NM_001369.3	NP_001360.1:p.(Arg2511Trp)	NC_000005.9:g.13810246G>A	VUS	1 lab	717df8b1a9
1:93303065 RPL5 G>A	1	93303065	93303065	G	A	RPL5	c.580G>A	NM_000969.5	NP_000960.2:p.(Val194Ile)	NC_000001.10:g.93303065G>A	VUS	1 lab	22e63bcea7
8:144891181 SCRIB G>A	8	144891181	144891181	G	A	SCRIB	c.1713C>T	NM_182706.5	NP_874365.3:p.(Phe571=)	NC_000008.10:g.144891181G>A	(Likely) benign	1 lab	7181d8c03a
17:8046152 PER1 G>A	17	8046152	8046152	G	A	PER1	c.3074C>T	NM_002616.3	NP_002607.2:p.(Ala1025Val)	NC_000017.10:g.8046152G>A	VUS	1 lab	7182024730
7:65445203 GUSB G>A	7	65445203	65445203	G	A	GUSB	c.396+8C>T	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65445203G>A	VUS	1 lab	718209fe12
7:156802643 MNX1 A>AGCGGCGGCGGCG	7	156802643	156802672	A	AGCGGCGGCGGCG	MNX1	c.390_401dup	NM_005515.4	NP_005506.3:p.(Ala131_Ala134dup)	NC_000007.13:g.156802661_156802672dup	VUS	1 lab	7183cd349c
8:1497481 DLGAP2 A>T	8	1497481	1497481	A	T	DLGAP2	c.862A>T	NM_001346810.2	NP_001333739.1:p.(Lys288Ter)	NC_000008.10:g.1497481A>T	VUS	1 lab	718805a030
17:80046415 FASN A>G	17	80046415	80046415	A	G	FASN	c.2444T>C	NM_004104.5	NP_004095.4:p.(Leu815Ser)	NC_000017.10:g.80046415A>G	VUS	1 lab	7188d48706
3:38620904 SCN5A G>T	3	38620904	38620904	G	T	SCN5A	c.3308C>A	NM_000335.4	NP_000326.2:p.(Ser1103Tyr)	NC_000003.11:g.38620904G>T	(Likely) benign	1 lab	243029677a
1:116942148 ATP1A1 T>C	1	116942148	116942148	T	C	ATP1A1	c.2555T>C	NM_000701.8	NP_000692.2:p.(Met852Thr)	NC_000001.10:g.116942148T>C	(Likely) benign	1 lab	718b8d7d55
3:180378495 CCDC39 G>C	3	180378495	180378495	G	C	CCDC39	c.379C>G	NM_181426.2	NP_852091.1:p.(Gln127Glu)	NC_000003.11:g.180378495G>C	VUS	1 lab	718be9aa90
9:125047469 MRRF T>G	9	125047469	125047469	T	G	MRRF	c.362T>G	NM_138777.5	NP_620132.1:p.(Val121Gly)	NC_000009.11:g.125047469T>G	VUS	1 lab	718d15b604
6:105219806 HACE1 T>C	6	105219806	105219806	T	C	HACE1	c.2008A>G	NM_020771.4	NP_065822.2:p.(Ile670Val)	NC_000006.11:g.105219806T>C	VUS	1 lab	718eec90f8
11:67815210 TCIRG1 G>A	11	67815210	67815210	G	A	TCIRG1	c.1402G>A	NM_006019.4	NP_006010.2:p.(Ala468Thr)	NC_000011.9:g.67815210G>A	VUS	1 lab	71909f7dcb
6:157528283 ARID1B A>G	6	157528283	157528283	A	G	ARID1B	c.6377A>G	NM_001374828.1	NP_001361757.1:p.(Lys2126Arg)	NC_000006.11:g.157528283A>G	(Likely) benign	1 lab	71925bfe29
6:119341322 FAM184A G>A	6	119341322	119341322	G	A	FAM184A	c.1153C>T	NM_024581.6	NP_078857.5:p.(His385Tyr)	NC_000006.11:g.119341322G>A	(Likely) benign	1 lab	71947a8860
3:25824860 NGLY1 T>C	3	25824860	25824860	T	C	NGLY1	c.22A>G	NM_018297.4	NP_060767.2:p.(Ser8Gly)	NC_000003.11:g.25824860T>C	VUS	1 lab	71961cf409
6:43019400 CUL7 C>G	6	43019400	43019400	C	G	CUL7	c.682G>C	NM_014780.5	NP_055595.2:p.(Ala228Pro)	NC_000006.11:g.43019400C>G	VUS	1 lab	71994fc3a6
11:36310961 COMMD9 A>G	11	36310961	36310961	A	G	COMMD9	c.2T>C	NM_014186.4	NP_054905.2:p.(Met1?)	NC_000011.9:g.36310961A>G	VUS	1 lab	719bd9e0e7
5:95224653 ELL2 T>C	5	95224653	95224653	T	C	ELL2	c.1845A>G	NM_012081.6	NP_036213.2:p.(Glu615=)	NC_000005.9:g.95224653T>C	(Likely) benign	1 lab	719cebd293
15:26866507 GABRB3 G>A	15	26866507	26866507	G	A	GABRB3	c.415C>T	NM_000814.6	NP_000805.1:p.(Arg139Cys)	NC_000015.9:g.26866507G>A	VUS	1 lab	719d493f47
4:85617302 WDFY3 G>A	4	85617302	85617302	G	A	WDFY3	c.8722C>T	NM_014991.6	NP_055806.2:p.(His2908Tyr)	NC_000004.11:g.85617302G>A	VUS	1 lab	71a0215e23
10:71703911 COL13A1 C>A	10	71703911	71703911	C	A	COL13A1	c.1945C>A	NM_001368882.1	NP_001355811.1:p.(Pro649Thr)	NC_000010.10:g.71703911C>A	VUS	1 lab	71a192e0dc
17:29667649 NF1 A>G	17	29667649	29667649	A	G	NF1	c.7048A>G	NM_001042492.3	NP_001035957.1:p.(Ile2350Val)	NC_000017.10:g.29667649A>G	(Likely) benign	1 lab	71a3ea5be5
19:18266718 PIK3R2 G>A	19	18266718	18266718	G	A	PIK3R2	c.29G>A	NM_005027.4	NP_005018.2:p.(Arg10His)	NC_000019.9:g.18266718G>A	VUS	1 lab	71a4dbde70
18:2705812 SMCHD1 C>T	18	2705812	2705812	C	T	SMCHD1	c.1956+7C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2705812C>T	(Likely) benign	1 lab	71a51d4722
2:166019323 SCN3A A>T	2	166019323	166019323	A	T	SCN3A	c.710T>A	NM_006922.4	NP_008853.3:p.(Val237Glu)	NC_000002.11:g.166019323A>T	(Likely) pathogenic	1 lab	71a5bc937d
11:6566679 DNHD1 C>T	11	6566679	6566679	C	T	DNHD1	c.4510C>T	NM_144666.3	NP_653267.2:p.(Gln1504Ter)	NC_000011.9:g.6566679C>T	(Likely) pathogenic	1 lab	71a623b186
10:22171224 DNAJC1 G>A	10	22171224	22171224	G	A	DNAJC1	c.965C>T	NM_022365.4	NP_071760.2:p.(Thr322Ile)	NC_000010.10:g.22171224G>A	VUS	1 lab	71a653f11a
7:101892102 CUX1 C>T	7	101892102	101892102	C	T	CUX1	c.4298C>T	NM_181552.4	NP_853530.2:p.(Ala1433Val)	NC_000007.13:g.101892102C>T	(Likely) benign	1 lab	71a74738f6
2:149240671 MBD5 C>T	2	149240671	149240671	C	T	MBD5	c.2519-8C>T	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149240671C>T	(Likely) benign	1 lab	71a76b9ff2
8:145736082 SLC33A2 T>C	8	145736082	145736082	T	C	SLC33A2	c.932T>C	NM_138431.3	NP_612440.1:p.(Met311Thr)	NC_000008.10:g.145736082T>C	(Likely) benign	1 lab	71ad2f6ad3
17:10432931 MYH2 C>G	17	10432931	10432931	C	G	MYH2	c.3067G>C	NM_017534.6	NP_060004.3:p.(Val1023Leu)	NC_000017.10:g.10432931C>G	VUS	1 lab	71ae2b2493
3:191093080 CCDC50 A>G	3	191093080	191093080	A	G	CCDC50	c.678A>G	NM_178335.3	NP_848018.1:p.(Lys226=)	NC_000003.11:g.191093080A>G	(Likely) benign	1 lab	22e8a3eb11
17:79863283 PCYT2 T>C	17	79863283	79863283	T	C	PCYT2	c.944A>G	NM_002861.5	NP_002852.1:p.(Asp315Gly)	NC_000017.10:g.79863283T>C	VUS	1 lab	71aef97eef
20:45771714 EYA2 T>C	20	45771714	45771714	T	C	EYA2	c.905T>C	NM_005244.5	NP_005235.3:p.(Val302Ala)	NC_000020.10:g.45771714T>C	VUS	1 lab	71afd2551f
11:89177311 NOX4 G>A	11	89177311	89177311	G	A	NOX4	c.439C>T	NM_016931.5	NP_058627.2:p.(Arg147Ter)	NC_000011.9:g.89177311G>A	VUS	1 lab	71b0ca09d1
3:136002764 PCCB T>C	3	136002764	136002764	T	C	PCCB	c.629T>C	NM_000532.5	NP_000523.2:p.(Leu210Pro)	NC_000003.11:g.136002764T>C	VUS	1 lab	71b0e259f3
19:39995894 DLL3 C>T	19	39995894	39995894	C	T	DLL3	c.896C>T	NM_203486.3	NP_982353.1:p.(Thr299Ile)	NC_000019.9:g.39995894C>T	(Likely) benign	1 lab	71b12b190b
9:35799699 NPR2 G>C	9	35799699	35799699	G	C	NPR2	c.958G>C	NM_003995.4	NP_003986.2:p.(Asp320His)	NC_000009.11:g.35799699G>C	VUS	1 lab	71b2321622
4:88537506 DSPP G>A	4	88537506	88537506	G	A	DSPP	c.3692G>A	NM_014208.3	NP_055023.2:p.(Ser1231Asn)	NC_000004.11:g.88537506G>A	(Likely) benign	1 lab	71b2a727cb
9:139265012 CARD9 G>GC	9	139265012	139265013	G	GC	CARD9	c.768dup	NM_052813.4	NP_434700.2:p.(Leu257AlafsTer78)	NC_000009.11:g.139265013dup	(Likely) pathogenic	1 lab	24356301b9
16:8941778 PMM2 G>C	16	8941778	8941778	G	C	PMM2	c.*96G>C	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8941778G>C	(Likely) benign	1 lab	2435e43e98
X:47003873 NDUFB11 T>C	X	47003873	47003873	T	C	NDUFB11	c.206A>G	NM_001135998.3	NP_001129470.1:p.(Lys69Arg)	NC_000023.10:g.47003873T>C	(Likely) benign	1 lab	71b34ca7e7
19:5151403 KDM4B G>A	19	5151403	5151403	G	A	KDM4B	c.3172G>A	NM_015015.3	NP_055830.1:p.(Ala1058Thr)	NC_000019.9:g.5151403G>A	(Likely) benign	1 lab	71b3684992
X:18222013 BEND2 G>A	X	18222013	18222013	G	A	BEND2	c.515C>T	NM_153346.5	NP_699177.2:p.(Pro172Leu)	NC_000023.10:g.18222013G>A	VUS	1 lab	71b39a709b
4:88536262 DSPP TGATAGC>T	4	88536262	88536270	TGATAGC	T	DSPP	c.2451_2456del	NM_014208.3	NP_055023.2:p.(Asp819_Ser820del)	NC_000004.11:g.88536265_88536270del	VUS	1 lab	71b648deaf
11:903736 CHID1 G>A	11	903736	903736	G	A	CHID1	c.112-625C>T	NM_023947.4	NP_076436.3:p.?	NC_000011.9:g.903736G>A	VUS	1 lab	71b94948e9
18:19780599 GATA6 G>C	18	19780599	19780599	G	C	GATA6	c.1621-20G>C	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19780599G>C	(Likely) benign	1 lab	71bb1c0870
12:52162796 SCN8A G>A	12	52162796	52162796	G	A	SCN8A	c.3049G>A	NM_001330260.2	NP_001317189.1:p.(Ala1017Thr)	NC_000012.11:g.52162796G>A	(Likely) benign	1 lab	71bbfdc0cb
12:122252826 SETD1B G>A	12	122252826	122252826	G	A	SETD1B	c.2705G>A	NM_001353345.2	NP_001340274.1:p.(Arg902Gln)	NC_000012.11:g.122252826G>A	(Likely) benign	1 lab	71bc5ad325
9:120476570 TLR4 A>G	9	120476570	120476570	A	G	TLR4	c.2164A>G	NM_138554.5	NP_612564.1:p.(Ile722Val)	NC_000009.11:g.120476570A>G	VUS	1 lab	22ea31c5ca
21:47819588 PCNT G>A	21	47819588	47819588	G	A	PCNT	c.4669G>A	NM_006031.6	NP_006022.3:p.(Val1557Met)	NC_000021.8:g.47819588G>A	(Likely) benign	1 lab	71bf71dfa4
12:110011694 MVK C>T	12	110011694	110011694	C	T	MVK	c.-15+16C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110011694C>T	(Likely) benign	1 lab	24375ad897
6:13014174 PHACTR1 G>T	6	13014174	13014174	G	T	PHACTR1	c.251-39423G>T	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13014174G>T	(Likely) benign	1 lab	71c355e818
19:1044707 ABCA7 GGGGCACCTGGT>G	19	1044707	1044724	GGGGCACCTGGT	G	ABCA7	c.1186_1196del	NM_019112.4	NP_061985.2:p.(Leu396AlafsTer45)	NC_000019.9:g.1044714_1044724del	VUS	1 lab	71c623ba28
5:64070575 CWC27 C>A	5	64070575	64070575	C	A	CWC27	c.100C>A	NM_005869.4	NP_005860.2:p.(Pro34Thr)	NC_000005.9:g.64070575C>A	VUS	1 lab	71c7992c35
20:61436252 OGFR A>C	20	61436252	61436252	A	C	OGFR	c.41A>C	NM_007346.4	NP_031372.2:p.(Glu14Ala)	NC_000020.10:g.61436252A>C	(Likely) benign	1 lab	71c7c6a4be
17:61995721 GH1 G>A	17	61995721	61995721	G	A	GH1	c.156C>T	NM_000515.5	NP_000506.2:p.(Asp52=)	NC_000017.10:g.61995721G>A	(Likely) benign	1 lab	71c87245bf
10:61832047 ANK3 C>A	10	61832047	61832047	C	A	ANK3	c.8592G>T	NM_020987.5	NP_066267.2:p.(Lys2864Asn)	NC_000010.10:g.61832047C>A	(Likely) benign	1 lab	71c897d131
14:20770037 TTC5 G>A	14	20770037	20770037	G	A	TTC5	c.139C>T	NM_138376.3	NP_612385.2:p.(Gln47Ter)	NC_000014.8:g.20770037G>A	VUS	1 lab	71ca3c6509
11:34112095 CAPRIN1 C>G	11	34112095	34112095	C	G	CAPRIN1	c.1424C>G	NM_005898.5	NP_005889.3:p.(Thr475Arg)	NC_000011.9:g.34112095C>G	VUS	1 lab	71cb2718e8
2:26607949 SELENOI T>C	2	26607949	26607949	T	C	SELENOI	c.854T>C	NM_033505.4	NP_277040.1:p.(Leu285Ser)	NC_000002.11:g.26607949T>C	VUS	1 lab	71cbf389d0
11:8642123 TRIM66 C>A	11	8642123	8642123	C	A	TRIM66	c.3546-4G>T	NM_001388022.1	NP_001374951.1:p.?	NC_000011.9:g.8642123C>A	VUS	1 lab	71cc218d48
12:10783893 STYK1 G>A	12	10783893	10783893	G	A	STYK1	c.202C>T	NM_018423.3	NP_060893.2:p.(Pro68Ser)	NC_000012.11:g.10783893G>A	(Likely) benign	1 lab	71cc3489a0
7:151884828 KMT2C T>C	7	151884828	151884828	T	C	KMT2C	c.4765A>G	NM_170606.3	NP_733751.2:p.(Ile1589Val)	NC_000007.13:g.151884828T>C	(Likely) benign	1 lab	71cc7f7e6c
6:45399699 RUNX2 A>G	6	45399699	45399699	A	G	RUNX2	c.523A>G	NM_001024630.4	NP_001019801.3:p.(Met175Val)	NC_000006.11:g.45399699A>G	VUS	1 lab	71cd80d1bd
8:145738804 RECQL4 C>T	8	145738804	145738804	C	T	RECQL4	c.2261G>A	NM_004260.4	NP_004251.4:p.(Arg754Gln)	NC_000008.10:g.145738804C>T	(Likely) benign	1 lab	71cdc9d662
19:1399879 GAMT C>G	19	1399879	1399879	C	G	GAMT	c.240G>C	NM_000156.6	NP_000147.1:p.(Glu80Asp)	NC_000019.9:g.1399879C>G	(Likely) benign	1 lab	71cebf82e3
21:47811217 PCNT C>T	21	47811217	47811217	C	T	PCNT	c.4142C>T	NM_006031.6	NP_006022.3:p.(Ala1381Val)	NC_000021.8:g.47811217C>T	(Likely) benign	1 lab	71cecf22af
X:11162240 ARHGAP6 C>T	X	11162240	11162240	C	T	ARHGAP6	c.2036G>A	NM_013427.3	NP_038286.2:p.(Arg679His)	NC_000023.10:g.11162240C>T	VUS	1 lab	71cf22503f
X:128602767 SMARCA1 T>A	X	128602767	128602767	T	A	SMARCA1	c.2681A>T	NM_001282874.2	NP_001269803.1:p.(Glu894Val)	NC_000023.10:g.128602767T>A	VUS	1 lab	71cfa64d7f
16:88788642 PIEZO1 C>T	16	88788642	88788642	C	T	PIEZO1	c.4939G>A	NM_001142864.4	NP_001136336.2:p.(Glu1647Lys)	NC_000016.9:g.88788642C>T	VUS	1 lab	71d2e47175
5:180055937 FLT4 C>T	5	180055937	180055937	C	T	FLT4	c.1048G>A	NM_182925.5	NP_891555.2:p.(Glu350Lys)	NC_000005.9:g.180055937C>T	(Likely) benign	1 lab	71d2fd8b07
17:73497779 CASKIN2 G>C	17	73497779	73497779	G	C	CASKIN2	c.3296-8C>G	NM_020753.5	NP_065804.2:p.?	NC_000017.10:g.73497779G>C	VUS	1 lab	71d3024cdf
12:122750844 VPS33A C>T	12	122750844	122750844	C	T	VPS33A	c.102+10G>A	NM_022916.6	NP_075067.2:p.?	NC_000012.11:g.122750844C>T	(Likely) benign	1 lab	71d5a57001
6:30861184 DDR1 G>A	6	30861184	30861184	G	A	DDR1	c.1331G>A	NM_001297654.2	NP_001284583.1:p.(Arg444His)	NC_000006.11:g.30861184G>A	(Likely) benign	1 lab	71d7c401fb
16:81411037 GAN G>A	16	81411037	81411037	G	A	GAN	c.1630G>A	NM_022041.4	NP_071324.1:p.(Val544Met)	NC_000016.9:g.81411037G>A	VUS	1 lab	71d7e1bb7a
15:64021853 HERC1 A>G	15	64021853	64021853	A	G	HERC1	c.2869-5T>C	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.64021853A>G	(Likely) benign	1 lab	71dbbadac1
4:177046446 WDR17 G>T	4	177046446	177046446	G	T	WDR17	c.730G>T	NM_181265.4	NP_851782.3:p.(Ala244Ser)	NC_000004.11:g.177046446G>T	VUS	1 lab	71de38a5e7
1:220315180 IARS2 G>T	1	220315180	220315180	G	T	IARS2	c.2450G>T	NM_018060.4	NP_060530.3:p.(Arg817Leu)	NC_000001.10:g.220315180G>T	VUS	1 lab	71de9c7579
19:52004866 SIGLEC12 G>A	19	52004866	52004866	G	A	SIGLEC12	c.122C>T	NM_053003.4	NP_443729.1:p.(Ser41Phe)	NC_000019.9:g.52004866G>A	(Likely) benign	1 lab	71df81974c
1:17740211 RCC2 C>T	1	17740211	17740211	C	T	RCC2	c.1029G>A	NM_018715.4	NP_061185.1:p.(Leu343=)	NC_000001.10:g.17740211C>T	VUS	1 lab	71e0a20cd1
12:31256609 DDX11 C>T	12	31256609	31256609	C	T	DDX11	c.2635C>T	NM_030653.4	NP_085911.2:p.(Arg879Ter)	NC_000012.11:g.31256609C>T	VUS	1 lab	71e320ed22
3:53126495 RFT1 T>C	3	53126495	53126495	T	C	RFT1	c.1348A>G	NM_052859.4	NP_443091.1:p.(Ile450Val)	NC_000003.11:g.53126495T>C	VUS	1 lab	71e3db3fb2
13:113513709 ATP11A C>T	13	113513709	113513709	C	T	ATP11A	c.2670C>T	NM_015205.3	NP_056020.2:p.(Asn890=)	NC_000013.10:g.113513709C>T	(Likely) benign	1 lab	71e47f38ca
1:22154901 HSPG2 G>A	1	22154901	22154901	G	A	HSPG2	c.12256C>T	NM_005529.7	NP_005520.4:p.(Arg4086Trp)	NC_000001.10:g.22154901G>A	(Likely) benign	1 lab	71e578217c
3:182733233 MCCC1 G>A	3	182733233	182733233	G	A	MCCC1	c.2171C>T	NM_020166.5	NP_064551.3:p.(Ser724Leu)	NC_000003.11:g.182733233G>A	(Likely) benign	1 lab	71e5ee3a72
16:15122854 PDXDC1 C>T	16	15122854	15122854	C	T	PDXDC1	c.1293+31C>T	NM_015027.4	NP_055842.2:p.?	NC_000016.9:g.15122854C>T	VUS	1 lab	71e9a5117e
5:60050665 ELOVL7 G>A	5	60050665	60050665	G	A	ELOVL7	c.637-5C>T	NM_024930.3	NP_079206.2:p.?	NC_000005.9:g.60050665G>A	(Likely) benign	1 lab	71e9ee7939
5:112174429 APC T>G	5	112174429	112174429	T	G	APC	c.3138T>G	NM_000038.6	NP_000029.2:p.(Asn1046Lys)	NC_000005.9:g.112174429T>G	VUS	1 lab	71eaaa605e
15:77763385 HMG20A G>T	15	77763385	77763385	G	T	HMG20A	c.583+1G>T	NM_001304504.2	NP_001291433.1:p.?	NC_000015.9:g.77763385G>T	VUS	1 lab	71ecf0f9f6
12:5021891 KCNA1 G>A	12	5021891	5021891	G	A	KCNA1	c.1347G>A	NM_000217.3	NP_000208.2:p.(Met449Ile)	NC_000012.11:g.5021891G>A	VUS	1 lab	71ee7f303d
13:32813873 FRY A>G	13	32813873	32813873	A	G	FRY	c.6542A>G	NM_023037.3	NP_075463.2:p.(Lys2181Arg)	NC_000013.10:g.32813873A>G	VUS	1 lab	71efc6f0ab
16:1630770 IFT140 C>T	16	1630770	1630770	C	T	IFT140	c.1514G>A	NM_014714.4	NP_055529.2:p.(Arg505Gln)	NC_000016.9:g.1630770C>T	VUS	1 lab	71efd7fd6e
8:145579954 FBXL6 G>GCTGACCCTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	8	145579954	145579962	G	GCTGACCCTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	FBXL6	c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGCCAGGGTCAG	NM_012162.4	NP_036294.2:p.?	NC_000008.10:g.145579961_145579962insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC	(Likely) benign	1 lab	71f043f63b
11:46920491 LRP4 C>T	11	46920491	46920491	C	T	LRP4	c.640G>A	NM_002334.4	NP_002325.2:p.(Asp214Asn)	NC_000011.9:g.46920491C>T	(Likely) benign	1 lab	71f08d6238
20:61457190 COL9A3 C>T	20	61457190	61457190	C	T	COL9A3	c.652C>T	NM_001853.4	NP_001844.3:p.(Pro218Ser)	NC_000020.10:g.61457190C>T	(Likely) benign	1 lab	71f26e02f9
2:29039007 SPDYA T>C	2	29039007	29039007	T	C	SPDYA	c.127T>C	NM_182756.4	NP_877433.2:p.(Trp43Arg)	NC_000002.11:g.29039007T>C	VUS	1 lab	71f3979b99
1:100676304 DBT C>G	1	100676304	100676304	C	G	DBT	c.963G>C	NM_001918.5	NP_001909.4:p.(Gln321His)	NC_000001.10:g.100676304C>G	VUS	1 lab	71f5250237
17:1972209 SMG6 T>C	17	1972209	1972209	T	C	SMG6	c.3698A>G	NM_017575.5	NP_060045.4:p.(His1233Arg)	NC_000017.10:g.1972209T>C	VUS	1 lab	71f8b899df
12:20799716 PDE3A G>A	12	20799716	20799716	G	A	PDE3A	c.2397G>A	NM_000921.5	NP_000912.3:p.(Met799Ile)	NC_000012.11:g.20799716G>A	(Likely) benign	1 lab	71f8ea4ef0
11:102826049 MMP13 AACCCCGC>A	11	102826049	102826057	AACCCCGC	A	MMP13	c.287_293del	NM_002427.4	NP_002418.1:p.(Cys96PhefsTer19)	NC_000011.9:g.102826051_102826057del	VUS	1 lab	71f91106e4
5:64907655 TRIM23 A>T	5	64907655	64907655	A	T	TRIM23	c.420T>A	NM_001656.4	NP_001647.1:p.(Thr140=)	NC_000005.9:g.64907655A>T	(Likely) benign	1 lab	71f9387b98
1:12034723 PLOD1 G>A	1	12034723	12034723	G	A	PLOD1	c.2042G>A	NM_000302.4	NP_000293.2:p.(Arg681Gln)	NC_000001.10:g.12034723G>A	VUS	1 lab	71fadafd9a
20:33513965 ACSS2 C>G	20	33513965	33513965	C	G	ACSS2	c.1784C>G	NM_018677.4	NP_061147.1:p.(Ala595Gly)	NC_000020.10:g.33513965C>G	VUS	1 lab	71faf63cb4
11:76895707 MYO7A C>G	11	76895707	76895707	C	G	MYO7A	c.3450C>G	NM_000260.4	NP_000251.3:p.(Asn1150Lys)	NC_000011.9:g.76895707C>G	VUS	1 lab	71fb7c60b7
12:6709138 CHD4 G>C	12	6709138	6709138	G	C	CHD4	c.1283C>G	NM_001273.5	NP_001264.2:p.(Ser428Trp)	NC_000012.11:g.6709138G>C	VUS	1 lab	71fbfcfe25
X:31165582 DMD AG>A	X	31165582	31165584	AG	A	DMD	c.10606del	NM_004006.3	NP_003997.2:p.(Leu3536CysfsTer10)	NC_000023.10:g.31165584del	(Likely) pathogenic	1 lab	71fc3308bf
10:3208511 PITRM1 C>T	10	3208511	3208511	C	T	PITRM1	c.328G>A	NM_014889.4	NP_055704.2:p.(Val110Ile)	NC_000010.10:g.3208511C>T	VUS	1 lab	71fdb040e0
1:45974835 MMACHC C>G	1	45974835	45974835	C	G	MMACHC	c.797C>G	NM_015506.3	NP_056321.2:p.(Ala266Gly)	NC_000001.10:g.45974835C>G	(Likely) benign	1 lab	71fec83c56
X:139865862 LINC00632 G>A	X	139865862	139865862	G	A	LINC00632	n.974G>A	NR_173140.2		NC_000023.10:g.139865862G>A	(Likely) benign	1 lab	7201404fa7
1:22828002 ZBTB40 C>T	1	22828002	22828002	C	T	ZBTB40	c.849C>T	NM_014870.4	NP_055685.3:p.(Phe283=)	NC_000001.10:g.22828002C>T	(Likely) benign	1 lab	7201f9020d
2:169764555 G6PC2 T>C	2	169764555	169764555	T	C	G6PC2	c.1034T>C	NM_021176.3	NP_066999.1:p.(Met345Thr)	NC_000002.11:g.169764555T>C	(Likely) benign	1 lab	7203f4fe43
6:169064749 SMOC2 G>T	6	169064749	169064749	G	T	SMOC2	c.1286-5G>T	NM_001166412.2	NP_001159884.1:p.?	NC_000006.11:g.169064749G>T	(Likely) benign	1 lab	720410cb6c
1:44075054 PTPRF G>A	1	44075054	44075054	G	A	PTPRF	c.3858G>A	NM_002840.5	NP_002831.2:p.(Arg1286=)	NC_000001.10:g.44075054G>A	VUS	1 lab	720444a1d2
1:120593850 NOTCH2 AAC>A	1	120593850	120593888	AAC	A	NOTCH2	c.73+18096_73+18097del	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120593887_120593888del	(Likely) benign	1 lab	720567ee38
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer47)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	7205a84d61
17:80863883 TBCD G>T	17	80863883	80863883	G	T	TBCD	c.1876G>T	NM_005993.5	NP_005984.3:p.(Ala626Ser)	NC_000017.10:g.80863883G>T	VUS	1 lab	7205f8aad4
10:61833138 ANK3 G>A	10	61833138	61833138	G	A	ANK3	c.7501C>T	NM_020987.5	NP_066267.2:p.(Arg2501Trp)	NC_000010.10:g.61833138G>A	VUS	1 lab	7209c71a97
X:54496855 FGD1 G>A	X	54496855	54496855	G	A	FGD1	c.695C>T	NM_004463.3	NP_004454.2:p.(Pro232Leu)	NC_000023.10:g.54496855G>A	(Likely) benign	1 lab	720a25dd10
9:139731874 RABL6 G>A	9	139731874	139731874	G	A	RABL6	c.886G>A	NM_024718.5	NP_078994.3:p.(Gly296Ser)	NC_000009.11:g.139731874G>A	VUS	1 lab	720c4622af
3:20027099 PP2D1 C>G	3	20027099	20027099	C	G	PP2D1	c.1666G>C	NM_001252657.2	NP_001239586.1:p.(Glu556Gln)	NC_000003.11:g.20027099C>G	VUS	1 lab	720c7ec7fe
22:37163388 IFT27 C>A	22	37163388	37163388	C	A	IFT27	c.136G>T	NM_001177701.3	NP_001171172.1:p.(Val46Leu)	NC_000022.10:g.37163388C>A	(Likely) benign	1 lab	720cd6d687
X:148564475 IDS T>C	X	148564475	148564475	T	C	IDS	c.1455A>G	NM_000202.8	NP_000193.1:p.(Ile485Met)	NC_000023.10:g.148564475T>C	VUS	1 lab	720efe4805
3:132416206 NPHP3 C>A	3	132416206	132416206	C	A	NPHP3	c.1986G>T	NM_153240.5	NP_694972.3:p.(Arg662Ser)	NC_000003.11:g.132416206C>A	VUS	1 lab	22ecc96392
15:90630743 IDH2 A>G	15	90630743	90630743	A	G	IDH2	c.743T>C	NM_002168.4	NP_002159.2:p.(Met248Thr)	NC_000015.9:g.90630743A>G	VUS	1 lab	721032ce4f
1:226822380 ITPKB G>C	1	226822380	226822380	G	C	ITPKB	c.2833C>G	NM_002221.4	NP_002212.3:p.(Leu945Val)	NC_000001.10:g.226822380G>C	(Likely) benign	1 lab	7210c0bfa6
14:75078278 LTBP2 T>A	14	75078278	75078278	T	A	LTBP2	c.370A>T	NM_000428.3	NP_000419.1:p.(Ser124Cys)	NC_000014.8:g.75078278T>A	VUS	1 lab	7211704b0e
6:42615881 UBR2 G>A	6	42615881	42615881	G	A	UBR2	c.2435G>A	NM_001363705.2	NP_001350634.1:p.(Ser812Asn)	NC_000006.11:g.42615881G>A	(Likely) benign	1 lab	7211e02c8d
1:10725239 CASZ1 C>G	1	10725239	10725239	C	G	CASZ1	c.406G>C	NM_001079843.3	NP_001073312.1:p.(Ala136Pro)	NC_000001.10:g.10725239C>G	(Likely) benign	1 lab	7213aa7f9d
16:3903428 CREBBP G>A	16	3903428	3903428	G	A	CREBBP	c.86-2418C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3903428G>A	(Likely) benign	1 lab	72853715d5
15:89395110 ACAN A>T	15	89395110	89395110	A	T	ACAN	c.2112A>T	NM_001369268.1	NP_001356197.1:p.(Gln704His)	NC_000015.9:g.89395110A>T	VUS	1 lab	7214ab05ee
14:64494517 SYNE2 G>T	14	64494517	64494517	G	T	SYNE2	c.6714+6G>T	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64494517G>T	(Likely) benign	1 lab	72162a5143
1:11206852 MTOR T>TAC	1	11206852	11206863	T	TAC	MTOR	c.4571-6_4571-5dup	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11206862_11206863dup	(Likely) benign	1 lab	22ed76137d
6:397178 IRF4 C>T	6	397178	397178	C	T	IRF4	c.563C>T	NM_002460.4	NP_002451.2:p.(Pro188Leu)	NC_000006.11:g.397178C>T	(Likely) benign	1 lab	243e77b433
7:143029979 CLCN1 A>T	7	143029979	143029979	A	T	CLCN1	c.1401+13A>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143029979A>T	(Likely) benign	1 lab	243fa45e6a
21:43896152 RSPH1 C>T	21	43896152	43896152	C	T	RSPH1	c.733G>A	NM_080860.4	NP_543136.1:p.(Gly245Arg)	NC_000021.8:g.43896152C>T	(Likely) benign	1 lab	72177cbad1
17:7495632 FXR2 GCT>G	17	7495632	7495636	GCT	G	FXR2	c.1864_1865del	NM_004860.4	NP_004851.2:p.(Ser622ProfsTer10)	NC_000017.10:g.7495635_7495636del	(Likely) pathogenic	1 lab	7217cb958b
4:114277290 ANK2 C>T	4	114277290	114277290	C	T	ANK2	c.7516C>T	NM_001148.6	NP_001139.3:p.(Arg2506Trp)	NC_000004.11:g.114277290C>T	(Likely) benign	1 lab	721a187cf8
9:135205123 SETX TTATTA>T	9	135205123	135205130	TTATTA	T	SETX	c.1857_1861del	NM_015046.7	NP_055861.3:p.(Tyr619Ter)	NC_000009.11:g.135205126_135205130del	(Likely) pathogenic	1 lab	244020351a
15:44892686 SPG11 T>TA	15	44892686	44892687	T	TA	SPG11	c.3664_3665insT	NM_025137.4	NP_079413.3:p.(Lys1222IlefsTer15)	NC_000015.9:g.44892686_44892687insA	(Likely) pathogenic	1 lab	721b2e607c
22:21066978 PI4KA T>C	22	21066978	21066978	T	C	PI4KA	c.5676+3A>G	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21066978T>C	(Likely) benign	1 lab	721b9c24d7
2:18736669 RDH14 G>C	2	18736669	18736669	G	C	RDH14	c.799C>G	NM_020905.4	NP_065956.1:p.(Leu267Val)	NC_000002.11:g.18736669G>C	VUS	1 lab	721c40d150
11:1016908 MUC6 G>T	11	1016908	1016908	G	T	MUC6	c.5893C>A	NM_005961.3	NP_005952.2:p.(Pro1965Thr)	NC_000011.9:g.1016908G>T	VUS	1 lab	721cb3a0dc
2:179468873 TTN C>G	2	179468873	179468873	C	G	TTN	c.54541G>C	NM_001267550.2	NP_001254479.2:p.(Gly18181Arg)	NC_000002.11:g.179468873C>G	VUS	1 lab	721d73d34d
16:69356562 VPS4A G>A	16	69356562	69356562	G	A	VPS4A	c.1171G>A	NM_013245.3	NP_037377.1:p.(Asp391Asn)	NC_000016.9:g.69356562G>A	(Likely) benign	1 lab	721dbba94e
19:36486180 SDHAF1 A>C	19	36486180	36486180	A	C	SDHAF1	c.4A>C	NM_001042631.3	NP_001036096.2:p.(Ser2Arg)	NC_000019.9:g.36486180A>C	VUS	1 lab	721ec48ed6
3:49457133 AMT G>C	3	49457133	49457133	G	C	AMT	c.550+10C>G	NM_000481.4	NP_000472.2:p.?	NC_000003.11:g.49457133G>C	(Likely) benign	1 lab	72201851cf
15:64495364 CSNK1G1 C>T	15	64495364	64495364	C	T	CSNK1G1	c.1024G>A	NM_022048.5	NP_071331.2:p.(Val342Ile)	NC_000015.9:g.64495364C>T	(Likely) benign	1 lab	722030a325
15:89383244 ACAN C>T	15	89383244	89383244	C	T	ACAN	c.456C>T	NM_001369268.1	NP_001356197.1:p.(Gly152=)	NC_000015.9:g.89383244C>T	(Likely) benign	1 lab	722083b9e2
19:55870813 GARIN5B TGGCTGGGGCCTTCTGGGATGGAGCAGGTAC>T	19	55870813	55870873	TGGCTGGGGCCTTCTGGGATGGAGCAGGTAC	T	GARIN5B	c.1393_1422del	NM_001145402.2	NP_001138874.1:p.(Val465_Ala474del)	NC_000019.9:g.55870844_55870873del	(Likely) benign	1 lab	722182118f
11:108198449 ATM A>T	11	108198449	108198449	A	T	ATM	c.7053A>T	NM_000051.4	NP_000042.3:p.(Glu2351Asp)	NC_000011.9:g.108198449A>T	(Likely) benign	1 lab	72233ddc58
10:1118160 WDR37 G>A	10	1118160	1118160	G	A	WDR37	c.65G>A	NM_014023.4	NP_054742.2:p.(Ser22Asn)	NC_000010.10:g.1118160G>A	(Likely) benign	1 lab	7224e0906d
4:120085352 MYOZ2 A>T	4	120085352	120085352	A	T	MYOZ2	c.377-14A>T	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120085352A>T	(Likely) benign	1 lab	3767a03b8d
11:68701940 IGHMBP2 C>T	11	68701940	68701940	C	T	IGHMBP2	c.1546C>T	NM_002180.3	NP_002171.2:p.(Arg516Cys)	NC_000011.9:g.68701940C>T	VUS	1 lab	72279e874a
20:23066136 CD93 C>T	20	23066136	23066136	C	T	CD93	c.694G>A	NM_012072.4	NP_036204.2:p.(Glu232Lys)	NC_000020.10:g.23066136C>T	VUS	1 lab	7227cf0ecc
14:35497285 SRP54 T>TTC	14	35497285	35497286	T	TTC	SRP54	c.1328-9_1328-8insTC	NM_003136.4	NP_003127.1:p.?	NC_000014.8:g.35497285_35497286insTC	(Likely) benign	1 lab	72295b6433
X:68725795 NALF2 C>G	X	68725795	68725795	C	G	NALF2	c.670C>G	NM_015686.3	NP_056501.2:p.(Leu224Val)	NC_000023.10:g.68725795C>G	VUS	1 lab	722a2a0f91
5:162901093 HMMR A>G	5	162901093	162901093	A	G	HMMR	c.935A>G	NM_001142556.2	NP_001136028.1:p.(Asn312Ser)	NC_000005.9:g.162901093A>G	(Likely) benign	1 lab	722a81e513
X:14876078 FANCB T>TAATA	X	14876078	14876102	T	TAATA	FANCB	c.1105-6_1105-3dup	NM_001018113.3	NP_001018123.1:p.?	NC_000023.10:g.14876099_14876102dup	(Likely) benign	1 lab	722ba62598
11:75442278 MOGAT2 G>A	11	75442278	75442278	G	A	MOGAT2	c.952G>A	NM_025098.4	NP_079374.2:p.(Ala318Thr)	NC_000011.9:g.75442278G>A	(Likely) benign	1 lab	722d1faf17
12:94131966 CRADD T>G	12	94131966	94131966	T	G	CRADD	c.298+59118T>G	NM_003805.5	NP_003796.1:p.?	NC_000012.11:g.94131966T>G	(Likely) benign	1 lab	722edee79b
15:48808430 FBN1 G>A	15	48808430	48808430	G	A	FBN1	c.1277C>T	NM_000138.5	NP_000129.3:p.(Pro426Leu)	NC_000015.9:g.48808430G>A	(Likely) benign	1 lab	722f97b67b
9:129458289 LMX1B C>T	9	129458289	129458289	C	T	LMX1B	c.1051+7C>T	NM_001174147.2	NP_001167618.1:p.?	NC_000009.11:g.129458289C>T	(Likely) benign	1 lab	7230748c8a
6:75866144 COL12A1 G>A	6	75866144	75866144	G	A	COL12A1	c.3079C>T	NM_004370.6	NP_004361.3:p.(Arg1027Cys)	NC_000006.11:g.75866144G>A	(Likely) benign	1 lab	72312d8da4
8:22368670 PPP3CC C>G	8	22368670	22368670	C	G	PPP3CC	c.556C>G	NM_005605.5	NP_005596.2:p.(Leu186Val)	NC_000008.10:g.22368670C>G	(Likely) benign	1 lab	72319aadaf
13:103400217 LRTM3 T>C	13	103400217	103400217	T	C	LRTM3	c.2830A>G	NM_001146197.3	NP_001139669.1:p.(Ile944Val)	NC_000013.10:g.103400217T>C	(Likely) benign	1 lab	7232aad6f5
17:41246590 BRCA1 T>C	17	41246590	41246590	T	C	BRCA1	c.958A>G	NM_007294.4	NP_009225.1:p.(Arg320Gly)	NC_000017.10:g.41246590T>C	VUS	1 lab	7234dc5bb1
19:12541462 ZNF443 T>G	19	12541462	12541462	T	G	ZNF443	c.1524A>C	NM_005815.5	NP_005806.3:p.(Glu508Asp)	NC_000019.9:g.12541462T>G	VUS	1 lab	723527a2e9
8:27319263 CHRNA2 C>G	8	27319263	27319263	C	G	CHRNA2	c.1473G>C	NM_000742.4	NP_000733.2:p.(Glu491Asp)	NC_000008.10:g.27319263C>G	VUS	1 lab	7235a1ba4d
X:134294490 CT55 T>G	X	134294490	134294490	T	G	CT55	c.280-10A>C	NM_001031705.3	NP_001026875.1:p.?	NC_000023.10:g.134294490T>G	(Likely) benign	1 lab	7236efd9c1
19:7123020 INSR G>T	19	7123020	7123020	G	T	INSR	c.3259-20C>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7123020G>T	(Likely) benign	1 lab	7236f23d37
20:43042355 HNF4A G>A	20	43042355	43042355	G	A	HNF4A	c.407G>A	NM_000457.5	NP_000448.3:p.(Arg136Gln)	NC_000020.10:g.43042355G>A	(Likely) pathogenic	1 lab	723a7f0fce
22:50968184 TYMP C>A	22	50968184	50968184	C	A	TYMP	c.-10-36G>T	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50968184C>A	(Likely) benign	1 lab	723c2e5b67
9:33796801 PRSS3 G>A	9	33796801	33796801	G	A	PRSS3	c.200+1G>A	NM_002771.4	NP_002762.3:p.?	NC_000009.11:g.33796801G>A	(Likely) benign	1 lab	723cc6e11b
X:153599529 FLNA G>T	X	153599529	153599529	G	T	FLNA	c.85C>A	NM_001110556.2	NP_001104026.1:p.(Pro29Thr)	NC_000023.10:g.153599529G>T	VUS	1 lab	723eb2824f
X:114871144 PLS3 C>T	X	114871144	114871144	C	T	PLS3	c.749-4C>T	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114871144C>T	(Likely) benign	1 lab	7240cc0168
12:111785426 CUX2 A>C	12	111785426	111785426	A	C	CUX2	c.3758A>C	NM_015267.4	NP_056082.2:p.(His1253Pro)	NC_000012.11:g.111785426A>C	(Likely) benign	1 lab	7241ee9888
1:230371780 GALNT2 G>A	1	230371780	230371780	G	A	GALNT2	c.395G>A	NM_004481.5	NP_004472.1:p.(Arg132Gln)	NC_000001.10:g.230371780G>A	VUS	1 lab	72442959d6
8:116616565 TRPS1 C>T	8	116616565	116616565	C	T	TRPS1	c.1631G>A	NM_014112.5	NP_054831.2:p.(Arg544Gln)	NC_000008.10:g.116616565C>T	(Likely) benign	1 lab	724505f816
14:103396618 AMN G>A	14	103396618	103396618	G	A	AMN	c.1123G>A	NM_030943.4	NP_112205.2:p.(Val375Ile)	NC_000014.8:g.103396618G>A	(Likely) benign	1 lab	72467a01bf
3:48609562 COL7A1 T>G	3	48609562	48609562	T	G	COL7A1	c.7021A>C	NM_000094.4	NP_000085.1:p.(Lys2341Gln)	NC_000003.11:g.48609562T>G	VUS	1 lab	72477336c1
1:225519212 DNAH14 G>A	1	225519212	225519212	G	A	DNAH14	c.9797G>A	NM_001367479.1	NP_001354408.1:p.(Arg3266Gln)	NC_000001.10:g.225519212G>A	(Likely) benign	1 lab	72492437fa
10:91477454 KIF20B G>A	10	91477454	91477454	G	A	KIF20B	c.1246G>A	NM_001284259.2	NP_001271188.1:p.(Val416Ile)	NC_000010.10:g.91477454G>A	VUS	1 lab	7249c347ff
1:220964843 MTARC1 G>C	1	220964843	220964843	G	C	MTARC1	c.286G>C	NM_022746.4	NP_073583.3:p.(Val96Leu)	NC_000001.10:g.220964843G>C	(Likely) benign	1 lab	724abd6b84
11:125831787 CDON C>T	11	125831787	125831787	C	T	CDON	c.3463G>A	NM_001378964.1	NP_001365893.1:p.(Val1155Met)	NC_000011.9:g.125831787C>T	(Likely) benign	1 lab	724ba46454
5:149441394 CSF1R G>A	5	149441394	149441394	G	A	CSF1R	c.1645C>T	NM_001288705.3	NP_001275634.1:p.(Arg549Cys)	NC_000005.9:g.149441394G>A	VUS	1 lab	724beb8bf4
15:41800377 LTK T>C	15	41800377	41800377	T	C	LTK	c.1139A>G	NM_002344.6	NP_002335.2:p.(Asn380Ser)	NC_000015.9:g.41800377T>C	VUS	1 lab	73ab923809
19:7998859 TIMM44 G>A	19	7998859	7998859	G	A	TIMM44	c.573C>T	NM_006351.4	NP_006342.2:p.(Asp191=)	NC_000019.9:g.7998859G>A	(Likely) benign	1 lab	724beba9f1
15:89390608 ACAN G>A	15	89390608	89390608	G	A	ACAN	c.1564G>A	NM_001369268.1	NP_001356197.1:p.(Glu522Lys)	NC_000015.9:g.89390608G>A	VUS	1 lab	724cd6d7c1
19:11665182 ELOF1 T>C	19	11665182	11665182	T	C	ELOF1	c.-18-2A>G	NM_032377.4	NP_115753.1:p.?	NC_000019.9:g.11665182T>C	VUS	1 lab	724d00d74a
7:35280504 TBX20 T>C	7	35280504	35280504	T	C	TBX20	c.800A>G	NM_001077653.2	NP_001071121.1:p.(Tyr267Cys)	NC_000007.13:g.35280504T>C	VUS	1 lab	22fa57e4b1
9:13224425 MPDZ T>C	9	13224425	13224425	T	C	MPDZ	c.341A>G	NM_001378778.1	NP_001365707.1:p.(Asn114Ser)	NC_000009.11:g.13224425T>C	VUS	1 lab	724f6c38a0
3:9517459 SETD5 G>A	3	9517459	9517459	G	A	SETD5	c.4013G>A	NM_001080517.3	NP_001073986.1:p.(Arg1338Lys)	NC_000003.11:g.9517459G>A	(Likely) benign	1 lab	72505bc212
17:79632260 OXLD1 T>A	17	79632260	79632260	T	A	OXLD1	c.415A>T	NM_001039842.3	NP_001034931.1:p.(Ile139Phe)	NC_000017.10:g.79632260T>A	VUS	1 lab	72505ef12b
1:225539341 DNAH14 T>C	1	225539341	225539341	T	C	DNAH14	c.11297-8T>C	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225539341T>C	(Likely) benign	1 lab	7250a8cf81
X:101910497 GPRASP1 C>G	X	101910497	101910497	C	G	GPRASP1	c.1656C>G	NM_001184727.2	NP_001171656.1:p.(Pro552=)	NC_000023.10:g.101910497C>G	VUS	1 lab	72520095ac
7:31015474 GHRHR C>G	7	31015474	31015474	C	G	GHRHR	c.965C>G	NM_000823.4	NP_000814.2:p.(Ser322Cys)	NC_000007.13:g.31015474C>G	VUS	1 lab	725385f2d1
7:152099013 KMT2C C>T	7	152099013	152099013	C	T	KMT2C	c.161+33698G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099013C>T	(Likely) benign	1 lab	7260257eb8
22:47134023 CERK T>TCCGCCGCCC	22	47134023	47134035	T	TCCGCCGCCC	CERK	c.14_22dup	NM_022766.6	NP_073603.2:p.(Gly5_Ala7dup)	NC_000022.10:g.47134027_47134035dup	(Likely) benign	1 lab	72549cfb64
4:73942680 ANKRD17 T>C	4	73942680	73942680	T	C	ANKRD17	c.7729A>G	NM_032217.5	NP_115593.3:p.(Thr2577Ala)	NC_000004.11:g.73942680T>C	(Likely) benign	1 lab	7254de5b38
11:20628592 SLC6A5 C>G	11	20628592	20628592	C	G	SLC6A5	c.719C>G	NM_004211.5	NP_004202.4:p.(Ala240Gly)	NC_000011.9:g.20628592C>G	VUS	1 lab	7255c7a79d
6:100841455 SIM1 C>T	6	100841455	100841455	C	T	SIM1	c.1478G>A	NM_005068.3	NP_005059.2:p.(Arg493His)	NC_000006.11:g.100841455C>T	VUS	1 lab	7255f00281
15:38591723 SPRED1 G>A	15	38591723	38591723	G	A	SPRED1	c.182G>A	NM_152594.3	NP_689807.1:p.(Arg61His)	NC_000015.9:g.38591723G>A	(Likely) benign	1 lab	72574f243d
2:207012564 NDUFS1 T>G	2	207012564	207012564	T	G	NDUFS1	c.339-6A>C	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207012564T>G	VUS	1 lab	7257bfb508
10:79769668 POLR3A T>A	10	79769668	79769668	T	A	POLR3A	c.1724A>T	NM_007055.4	NP_008986.2:p.(Lys575Met)	NC_000010.10:g.79769668T>A	(Likely) benign	1 lab	725844b255
2:48132636 FBXO11 CCGA>C	2	48132636	48132641	CCGA	C	FBXO11	c.221_223del	NM_001190274.2	NP_001177203.1:p.(Val74del)	NC_000002.11:g.48132639_48132641del	(Likely) benign	1 lab	7258eb269c
2:48033805 MSH6 A>G	2	48033805	48033805	A	G	MSH6	c.4001+15A>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033805A>G	(Likely) benign	1 lab	725950dbe9
7:19156644 TWIST1 G>C	7	19156644	19156644	G	C	TWIST1	c.301C>G	NM_000474.4	NP_000465.1:p.(Gln101Glu)	NC_000007.13:g.19156644G>C	(Likely) benign	1 lab	725a62432c
9:140637825 EHMT1 TGC>T	9	140637825	140637827	TGC	T	EHMT1	c.827_828del	NM_024757.5	NP_079033.4:p.(Cys276PhefsTer21)	NC_000009.11:g.140637826_140637827del	VUS	1 lab	725a7a961d
2:145275184 ZEB2 G>C	2	145275184	145275184	G	C	ZEB2	c.-69-198C>G	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145275184G>C	VUS	1 lab	725d43dd85
X:153593830 FLNA G>T	X	153593830	153593830	G	T	FLNA	c.1454C>A	NM_001110556.2	NP_001104026.1:p.(Ala485Glu)	NC_000023.10:g.153593830G>T	VUS	1 lab	725d91fe39
7:82582078 PCLO G>A	7	82582078	82582078	G	A	PCLO	c.8191C>T	NM_033026.6	NP_149015.2:p.(Arg2731Cys)	NC_000007.13:g.82582078G>A	VUS	1 lab	725e89168a
X:150793999 PASD1 T>C	X	150793999	150793999	T	C	PASD1	c.626T>C	NM_173493.3	NP_775764.2:p.(Leu209Pro)	NC_000023.10:g.150793999T>C	VUS	1 lab	725f2c8951
5:132227890 AFF4 T>G	5	132227890	132227890	T	G	AFF4	c.2603A>C	NM_014423.4	NP_055238.1:p.(Glu868Ala)	NC_000005.9:g.132227890T>G	VUS	1 lab	725fc9a326
2:210703947 UNC80 G>A	2	210703947	210703947	G	A	UNC80	c.3043G>A	NM_001371986.1	NP_001358915.1:p.(Asp1015Asn)	NC_000002.11:g.210703947G>A	VUS	1 lab	72610eac17
X:11778523 MSL3 T>C	X	11778523	11778523	T	C	MSL3	c.187T>C	NM_078629.4	NP_523353.2:p.(Trp63Arg)	NC_000023.10:g.11778523T>C	VUS	1 lab	72623ede67
16:1840777 IGFALS G>A	16	1840777	1840777	G	A	IGFALS	c.1642C>T	NM_004970.3	NP_004961.1:p.(Arg548Trp)	NC_000016.9:g.1840777G>A	(Likely) benign	1 lab	7264716dee
11:3060507 CARS1 G>A	11	3060507	3060507	G	A	CARS1	c.568C>T	NM_001014437.3	NP_001014437.1:p.(Arg190Trp)	NC_000011.9:g.3060507G>A	VUS	1 lab	7264d43abf
5:176675254 NSD1 G>A	5	176675254	176675254	G	A	NSD1	c.4570G>A	NM_022455.5	NP_071900.2:p.(Gly1524Arg)	NC_000005.9:g.176675254G>A	VUS	1 lab	72670c57e9
15:25959388 ATP10A C>T	15	25959388	25959388	C	T	ATP10A	c.1777G>A	NM_024490.4	NP_077816.1:p.(Val593Met)	NC_000015.9:g.25959388C>T	(Likely) benign	1 lab	7268309553
9:139092534 LHX3 G>A	9	139092534	139092534	G	A	LHX3	c.145C>T	NM_178138.6	NP_835258.1:p.(Arg49Cys)	NC_000009.11:g.139092534G>A	VUS	1 lab	7269aad93e
16:1574553 IFT140 C>T	16	1574553	1574553	C	T	IFT140	c.3141G>A	NM_014714.4	NP_055529.2:p.(Lys1047=)	NC_000016.9:g.1574553C>T	VUS	1 lab	726a75b60b
2:152417134 NEB G>T	2	152417134	152417134	G	T	NEB	c.19286C>A	NM_001164508.2	NP_001157980.2:p.(Ala6429Asp)	NC_000002.11:g.152417134G>T	(Likely) benign	1 lab	726c6515e9
2:37455566 CEBPZ T>C	2	37455566	37455566	T	C	CEBPZ	c.770A>G	NM_005760.3	NP_005751.2:p.(Asp257Gly)	NC_000002.11:g.37455566T>C	VUS	1 lab	726c7dcaa8
5:172750392 STC2 G>A	5	172750392	172750392	G	A	STC2	c.336C>T	NM_003714.3	NP_003705.1:p.(His112=)	NC_000005.9:g.172750392G>A	(Likely) benign	1 lab	726d5141ec
16:69171795 UTP4 G>A	16	69171795	69171795	G	A	UTP4	c.436+7G>A	NM_032830.3	NP_116219.2:p.?	NC_000016.9:g.69171795G>A	(Likely) benign	1 lab	726dfa7580
3:45017794 EXOSC7 G>C	3	45017794	45017794	G	C	EXOSC7	c.25G>C	NM_015004.4	NP_055819.2:p.(Ala9Pro)	NC_000003.11:g.45017794G>C	VUS	1 lab	726e09535b
17:80012780 GPS1 G>A	17	80012780	80012780	G	A	GPS1	c.616G>A	NM_001321092.3	NP_001308021.1:p.(Val206Ile)	NC_000017.10:g.80012780G>A	VUS	1 lab	72743c78c1
7:2959105 CARD11 C>T	7	2959105	2959105	C	T	CARD11	c.2411G>A	NM_032415.7	NP_115791.3:p.(Arg804His)	NC_000007.13:g.2959105C>T	VUS	1 lab	7274ca14bf
19:21926906 ZNF100 G>C	19	21926906	21926906	G	C	ZNF100	c.235C>G	NM_173531.4	NP_775802.2:p.(Leu79Val)	NC_000019.9:g.21926906G>C	(Likely) benign	1 lab	72760edb3f
18:20577707 RBBP8 G>A	18	20577707	20577707	G	A	RBBP8	c.2143+10G>A	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20577707G>A	(Likely) benign	1 lab	7276a0b5fe
7:151878029 KMT2C G>A	7	151878029	151878029	G	A	KMT2C	c.6916C>T	NM_170606.3	NP_733751.2:p.(Pro2306Ser)	NC_000007.13:g.151878029G>A	(Likely) benign	1 lab	7278b77e59
X:18577478 CDKL5 G>A	X	18577478	18577478	G	A	CDKL5	c.100-5119G>A	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18577478G>A	(Likely) benign	1 lab	727ac720ed
X:140967063 MAGEC3 A>G	X	140967063	140967063	A	G	MAGEC3	c.361A>G	NM_138702.1	NP_619647.1:p.(Lys121Glu)	NC_000023.10:g.140967063A>G	(Likely) benign	1 lab	727ddd917e
19:16989014 SIN3B G>A	19	16989014	16989014	G	A	SIN3B	c.2975G>A	NM_001297595.2	NP_001284524.1:p.(Arg992His)	NC_000019.9:g.16989014G>A	(Likely) benign	1 lab	727e2089b4
2:216248044 FN1 T>G	2	216248044	216248044	T	G	FN1	c.5050+7A>C	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216248044T>G	(Likely) benign	1 lab	727f57a158
1:32669955 CCDC28B G>A	1	32669955	32669955	G	A	CCDC28B	c.500G>A	NM_024296.5	NP_077272.2:p.(Arg167His)	NC_000001.10:g.32669955G>A	VUS	1 lab	727f8922e9
21:30698732 BACH1 C>T	21	30698732	30698732	C	T	BACH1	c.587C>T	NM_001186.4	NP_001177.1:p.(Ser196Leu)	NC_000021.8:g.30698732C>T	(Likely) benign	1 lab	72802a970f
14:68331678 RAD51B CTTTT>C	14	68331678	68331717	CTTTT	C	RAD51B	c.316-6_316-3del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68331714_68331717del	(Likely) benign	1 lab	7280851973
6:163899808 QKI TCAG>T	6	163899808	163899811	TCAG	T	QKI	c.286-3_286-1del	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163899809_163899811del	(Likely) benign	1 lab	7280c14a5a
12:66232342 HMGA2 G>T	12	66232342	66232342	G	T	HMGA2	c.242G>T	NM_003483.6	NP_003474.1:p.(Arg81Met)	NC_000012.11:g.66232342G>T	VUS	1 lab	7282a37ffc
15:41102166 ZFYVE19 C>T	15	41102166	41102166	C	T	ZFYVE19	c.569C>T	NM_001077268.2	NP_001070736.1:p.(Pro190Leu)	NC_000015.9:g.41102166C>T	(Likely) benign	1 lab	72831b6143
12:70988283 PTPRB C>G	12	70988283	70988283	C	G	PTPRB	c.1480G>C	NM_001109754.4	NP_001103224.1:p.(Gly494Arg)	NC_000012.11:g.70988283C>G	VUS	1 lab	7283324d9f
X:140994462 MAGEC1 A>C	X	140994462	140994462	A	C	MAGEC1	c.1272A>C	NM_005462.5	NP_005453.2:p.(Leu424Phe)	NC_000023.10:g.140994462A>C	(Likely) benign	1 lab	72834e4a5d
11:66475108 SPTBN2 C>T	11	66475108	66475108	C	T	SPTBN2	c.1532G>A	NM_006946.4	NP_008877.2:p.(Arg511Gln)	NC_000011.9:g.66475108C>T	VUS	1 lab	7283817aeb
17:48227398 PPP1R9B C>G	17	48227398	48227398	C	G	PPP1R9B	c.479G>C	NM_032595.5	NP_115984.3:p.(Gly160Ala)	NC_000017.10:g.48227398C>G	VUS	1 lab	7284ad189c
X:76776294 ATRX T>C	X	76776294	76776294	T	C	ATRX	c.7172A>G	NM_000489.6	NP_000480.3:p.(Tyr2391Cys)	NC_000023.10:g.76776294T>C	VUS	1 lab	728628b5f4
15:86791010 AGBL1 G>A	15	86791010	86791010	G	A	AGBL1	c.635G>A	NM_001386094.1	NP_001373023.1:p.(Arg212Gln)	NC_000015.9:g.86791010G>A	VUS	1 lab	7286ed09d0
13:51825825 FAM124A C>T	13	51825825	51825825	C	T	FAM124A	c.322C>T	NM_001242312.2	NP_001229241.1:p.(Gln108Ter)	NC_000013.10:g.51825825C>T	VUS	1 lab	728f300343
22:46932653 CELSR1 A>G	22	46932653	46932653	A	G	CELSR1	c.415T>C	NM_001378328.1	NP_001365257.1:p.(Cys139Arg)	NC_000022.10:g.46932653A>G	(Likely) benign	1 lab	728fa93916
10:12160900 DHTKD1 A>G	10	12160900	12160900	A	G	DHTKD1	c.2555A>G	NM_018706.7	NP_061176.4:p.(Lys852Arg)	NC_000010.10:g.12160900A>G	(Likely) benign	1 lab	728fcf798d
9:135946951 CEL G>A	9	135946951	135946951	G	A	CEL	c.2062G>A	NM_001807.6	NP_001798.3:p.(Gly688Ser)	NC_000009.11:g.135946951G>A	(Likely) benign	1 lab	728fd5f58e
1:45973939 MMACHC G>A	1	45973939	45973939	G	A	MMACHC	c.332G>A	NM_015506.3	NP_056321.2:p.(Arg111Gln)	NC_000001.10:g.45973939G>A	VUS	1 lab	72901a9fd1
2:170113634 LRP2 G>A	2	170113634	170113634	G	A	LRP2	c.2639C>T	NM_004525.3	NP_004516.2:p.(Ala880Val)	NC_000002.11:g.170113634G>A	VUS	1 lab	72904a8720
7:128480135 FLNC C>T	7	128480135	128480135	C	T	FLNC	c.1470C>T	NM_001458.5	NP_001449.3:p.(Arg490=)	NC_000007.13:g.128480135C>T	(Likely) benign	1 lab	7292d9c98c
11:36597492 RAG1 G>A	11	36597492	36597492	G	A	RAG1	c.2638G>A	NM_000448.2	NP_000439.1:p.(Glu880Lys)	NC_000011.9:g.36597492G>A	(Likely) benign	1 lab	244f8c0583
16:87677942 JPH3 C>T	16	87677942	87677942	C	T	JPH3	c.461C>T	NM_020655.4	NP_065706.2:p.(Ala154Val)	NC_000016.9:g.87677942C>T	VUS	1 lab	7296f3e946
6:90372550 MDN1 TTCTTCCTCCTCA>T	6	90372550	90372576	TTCTTCCTCCTCA	T	MDN1	c.14361_14372del	NM_014611.3	NP_055426.1:p.(Asp4787_Glu4790del)	NC_000006.11:g.90372565_90372576del	VUS	1 lab	72980c285c
12:9261949 A2M C>A	12	9261949	9261949	C	A	A2M	c.726G>T	NM_000014.6	NP_000005.3:p.(Leu242Phe)	NC_000012.11:g.9261949C>A	(Likely) benign	1 lab	7298c61b40
6:30073024 TRIM31 G>A	6	30073024	30073024	G	A	TRIM31	c.884-5C>T	NM_007028.5	NP_008959.3:p.?	NC_000006.11:g.30073024G>A	(Likely) benign	1 lab	7298d1613f
20:62038364 KCNQ2 G>A	20	62038364	62038364	G	A	KCNQ2	c.2252C>T	NM_172107.4	NP_742105.1:p.(Ser751Leu)	NC_000020.10:g.62038364G>A	(Likely) benign	1 lab	729a0cb1f5
5:127727771 FBN2 A>T	5	127727771	127727771	A	T	FBN2	c.1543T>A	NM_001999.4	NP_001990.2:p.(Ser515Thr)	NC_000005.9:g.127727771A>T	(Likely) benign	1 lab	729a7a70d6
19:56703271 ZSCAN5B G>A	19	56703271	56703271	G	A	ZSCAN5B	c.536C>T	NM_001080456.5	NP_001073925.2:p.(Ala179Val)	NC_000019.9:g.56703271G>A	(Likely) benign	1 lab	729dab57e8
11:65997819 PACS1 C>G	11	65997819	65997819	C	G	PACS1	c.1375-200C>G	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65997819C>G	(Likely) benign	1 lab	729fa727e3
16:16313539 ABCC6 T>C	16	16313539	16313539	T	C	ABCC6	c.346A>G	NM_001171.6	NP_001162.5:p.(Ser116Gly)	NC_000016.9:g.16313539T>C	VUS	1 lab	72a016de4d
12:20766513 PDE3A C>A	12	20766513	20766513	C	A	PDE3A	c.1148C>A	NM_000921.5	NP_000912.3:p.(Thr383Lys)	NC_000012.11:g.20766513C>A	VUS	1 lab	72a1169d83
19:1106611 GPX4 C>A	19	1106611	1106611	C	A	GPX4	c.*40C>A	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1106611C>A	VUS	1 lab	72a191a86e
16:68714935 CDH3 C>T	16	68714935	68714935	C	T	CDH3	c.932C>T	NM_001793.6	NP_001784.2:p.(Thr311Met)	NC_000016.9:g.68714935C>T	VUS	1 lab	72a3178512
11:17491671 ABCC8 G>A	11	17491671	17491671	G	A	ABCC8	c.389C>T	NM_000352.6	NP_000343.2:p.(Ser130Phe)	NC_000011.9:g.17491671G>A	VUS	1 lab	72a7291325
15:74474753 STRA6 G>T	15	74474753	74474753	G	T	STRA6	c.1349C>A	NM_022369.4	NP_071764.3:p.(Ala450Asp)	NC_000015.9:g.74474753G>T	(Likely) benign	1 lab	72a75b4be1
11:17408547 KCNJ11 G>T	11	17408547	17408547	G	T	KCNJ11	c.1092C>A	NM_000525.4	NP_000516.3:p.(Ala364=)	NC_000011.9:g.17408547G>T	(Likely) benign	1 lab	72a85b2680
6:109763464 SMPD2 CATCT>C	6	109763464	109763469	CATCT	C	SMPD2	c.372_375del	NM_003080.3	NP_003071.2:p.(His124GlnfsTer10)	NC_000006.11:g.109763466_109763469del	VUS	1 lab	72a873315c
5:149441352 CSF1R A>C	5	149441352	149441352	A	C	CSF1R	c.1687T>G	NM_001288705.3	NP_001275634.1:p.(Phe563Val)	NC_000005.9:g.149441352A>C	VUS	1 lab	72a9329674
15:91423129 FURIN G>A	15	91423129	91423129	G	A	FURIN	c.1291G>A	NM_002569.4	NP_002560.1:p.(Ala431Thr)	NC_000015.9:g.91423129G>A	VUS	1 lab	72a952fdc9
3:140401845 TRIM42 T>C	3	140401845	140401845	T	C	TRIM42	c.883T>C	NM_152616.5	NP_689829.3:p.(Ser295Pro)	NC_000003.11:g.140401845T>C	(Likely) benign	1 lab	72a995a8f3
19:45856074 ERCC2 A>G	19	45856074	45856074	A	G	ERCC2	c.1832T>C	NM_000400.4	NP_000391.1:p.(Val611Ala)	NC_000019.9:g.45856074A>G	VUS	1 lab	72add408e3
1:6203921 CHD5 C>T	1	6203921	6203921	C	T	CHD5	c.2005G>A	NM_015557.3	NP_056372.1:p.(Asp669Asn)	NC_000001.10:g.6203921C>T	(Likely) benign	1 lab	72add7c7b5
22:20784978 SCARF2 G>A	22	20784978	20784978	G	A	SCARF2	c.1072C>T	NM_182895.5	NP_878315.2:p.(Arg358Trp)	NC_000022.10:g.20784978G>A	VUS	1 lab	72ade54a89
1:160252880 PEX19 T>G	1	160252880	160252880	T	G	PEX19	c.200A>C	NM_002857.4	NP_002848.1:p.(Gln67Pro)	NC_000001.10:g.160252880T>G	(Likely) benign	1 lab	72aed74245
15:101606082 LRRK1 G>A	15	101606082	101606082	G	A	LRRK1	c.5440G>A	NM_024652.6	NP_078928.3:p.(Ala1814Thr)	NC_000015.9:g.101606082G>A	(Likely) benign	1 lab	72aedb73fb
5:159659242 FABP6 G>A	5	159659242	159659242	G	A	FABP6	c.205G>A	NM_001445.3	NP_001436.1:p.(Glu69Lys)	NC_000005.9:g.159659242G>A	VUS	1 lab	72afe82aee
17:39973305 FKBP10 C>A	17	39973305	39973305	C	A	FKBP10	c.246-5C>A	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39973305C>A	(Likely) benign	1 lab	72b1aa1d7d
17:8381651 MYH10 C>T	17	8381651	8381651	C	T	MYH10	c.5706+5G>A	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8381651C>T	(Likely) benign	1 lab	72b1ce32d5
1:240371002 FMN2 A>G	1	240371002	240371002	A	G	FMN2	c.2890A>G	NM_020066.5	NP_064450.3:p.(Ile964Val)	NC_000001.10:g.240371002A>G	VUS	1 lab	72b22690cd
8:145140209 GPAA1 G>A	8	145140209	145140209	G	A	GPAA1	c.1278G>A	NM_003801.4	NP_003792.1:p.(Ser426=)	NC_000008.10:g.145140209G>A	VUS	1 lab	72b2a55666
16:83941774 MLYCD C>T	16	83941774	83941774	C	T	MLYCD	c.685C>T	NM_012213.3	NP_036345.2:p.(Arg229Cys)	NC_000016.9:g.83941774C>T	VUS	1 lab	72b30a254d
17:48431067 XYLT2 G>A	17	48431067	48431067	G	A	XYLT2	c.212G>A	NM_022167.4	NP_071450.2:p.(Arg71Gln)	NC_000017.10:g.48431067G>A	(Likely) benign	1 lab	72b541fd7d
16:1576771 IFT140 C>T	16	1576771	1576771	C	T	IFT140	c.2426G>A	NM_014714.4	NP_055529.2:p.(Arg809His)	NC_000016.9:g.1576771C>T	VUS	1 lab	72b69693d8
16:70295061 AARS1 C>T	16	70295061	70295061	C	T	AARS1	c.1672-1G>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70295061C>T	VUS	1 lab	72ba1b0d5c
1:52847321 ORC1 G>C	1	52847321	52847321	G	C	ORC1	c.2126C>G	NM_004153.4	NP_004144.2:p.(Ala709Gly)	NC_000001.10:g.52847321G>C	VUS	1 lab	72ba9e3431
16:72984661 ZFHX3 C>A	16	72984661	72984661	C	A	ZFHX3	c.2923G>T	NM_006885.4	NP_008816.3:p.(Glu975Ter)	NC_000016.9:g.72984661C>A	VUS	1 lab	72bcad13a5
6:117198536 RFX6 T>C	6	117198536	117198536	T	C	RFX6	c.98T>C	NM_173560.4	NP_775831.2:p.(Leu33Pro)	NC_000006.11:g.117198536T>C	VUS	1 lab	72bd2567f1
17:7750961 KDM6B C>T	17	7750961	7750961	C	T	KDM6B	c.1355C>T	NM_001348716.2	NP_001335645.1:p.(Ala452Val)	NC_000017.10:g.7750961C>T	(Likely) benign	1 lab	72bfe8212a
22:32202125 DEPDC5 G>A	22	32202125	32202125	G	A	DEPDC5	c.1235G>A	NM_001242896.3	NP_001229825.1:p.(Ser412Asn)	NC_000022.10:g.32202125G>A	VUS	1 lab	72c22a897e
16:72821642 ZFHX3 ACCGCCG>A	16	72821642	72821657	ACCGCCG	A	ZFHX3	c.10527_10532del	NM_006885.4	NP_008816.3:p.(Gly3511_Gly3512del)	NC_000016.9:g.72821652_72821657del	(Likely) benign	1 lab	72c33dd7f3
15:48807650 FBN1 T>C	15	48807650	48807650	T	C	FBN1	c.1402A>G	NM_000138.5	NP_000129.3:p.(Thr468Ala)	NC_000015.9:g.48807650T>C	VUS	1 lab	744a7fc664
1:104080057 RNPC3 T>G	1	104080057	104080057	T	G	RNPC3	c.718T>G	NM_017619.4	NP_060089.1:p.(Ser240Ala)	NC_000001.10:g.104080057T>G	(Likely) benign	1 lab	72c3e87abe
1:220273746 IARS2 CTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGA>C	1	220273746	220273840	CTAATTATCATTTTATCTTTGCAGATTTTGAAATACATGGCCAAATATTTTATGTATGAATGA	C	IARS2	c.391-53_399del	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220273779_220273840del	VUS	1 lab	72c3eb8e7e
3:51418535 DOCK3 G>A	3	51418535	51418535	G	A	DOCK3	c.5638G>A	NM_004947.5	NP_004938.1:p.(Gly1880Ser)	NC_000003.11:g.51418535G>A	VUS	1 lab	72c54331c7
9:135946698 CEL C>T	9	135946698	135946698	C	T	CEL	c.1809C>T	NM_001807.6	NP_001798.3:p.(Pro603=)	NC_000009.11:g.135946698C>T	(Likely) benign	1 lab	72c976e528
1:10715845 CASZ1 A>G	1	10715845	10715845	A	G	CASZ1	c.1526T>C	NM_001079843.3	NP_001073312.1:p.(Ile509Thr)	NC_000001.10:g.10715845A>G	VUS	1 lab	72c981bd75
3:172163235 GHSR T>C	3	172163235	172163235	T	C	GHSR	c.817A>G	NM_198407.2	NP_940799.1:p.(Ile273Val)	NC_000003.11:g.172163235T>C	(Likely) benign	1 lab	72ca1b3eed
16:81078492 ATMIN C>G	16	81078492	81078492	C	G	ATMIN	c.2389C>G	NM_015251.3	NP_056066.2:p.(Leu797Val)	NC_000016.9:g.81078492C>G	(Likely) benign	1 lab	72ca36552f
X:73641358 SLC16A2 AGGCAGC>A	X	73641358	73641376	AGGCAGC	A	SLC16A2	c.-102_-97del	NM_006517.5	NP_006508.2:p.?	NC_000023.10:g.73641371_73641376del	(Likely) benign	1 lab	22fffb9f90
9:95022445 IARS1 G>GC	9	95022445	95022446	G	GC	IARS1	c.1858dup	NM_002161.6	NP_002152.2:p.(Ala620GlyfsTer2)	NC_000009.11:g.95022446dup	VUS	1 lab	72cb5badc1
6:117250139 RFX6 A>G	6	117250139	117250139	A	G	RFX6	c.2611+5A>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117250139A>G	(Likely) benign	1 lab	72cc9e2e23
9:14750216 FREM1 A>G	9	14750216	14750216	A	G	FREM1	c.5466T>C	NM_144966.5	NP_659403.4:p.(Asp1822=)	NC_000009.11:g.14750216A>G	(Likely) benign	1 lab	2451bc281c
16:72821603 ZFHX3 GCCGCCGCCGCCGCCA>G	16	72821603	72821632	GCCGCCGCCGCCGCCA	G	ZFHX3	c.10557_10571del	NM_006885.4	NP_008816.3:p.(Gly3523_Gly3527del)	NC_000016.9:g.72821618_72821632del	VUS	1 lab	72cd567b54
4:119273595 PRSS12 G>T	4	119273595	119273595	G	T	PRSS12	c.281C>A	NM_003619.4	NP_003610.2:p.(Pro94His)	NC_000004.11:g.119273595G>T	VUS	1 lab	72ce66e6e5
1:210856830 KCNH1 C>G	1	210856830	210856830	C	G	KCNH1	c.2763G>C	NM_172362.3	NP_758872.1:p.(Thr921=)	NC_000001.10:g.210856830C>G	VUS	1 lab	72cfa9f28f
10:67680159 CTNNA3 G>A	10	67680159	67680159	G	A	CTNNA3	c.2617C>T	NM_013266.4	NP_037398.2:p.(Arg873Ter)	NC_000010.10:g.67680159G>A	VUS	1 lab	72d05a0d2a
16:53730087 RPGRIP1L C>T	16	53730087	53730087	C	T	RPGRIP1L	c.206G>A	NM_015272.5	NP_056087.2:p.(Arg69His)	NC_000016.9:g.53730087C>T	(Likely) benign	1 lab	72d20c12fa
X:149639642 MAMLD1 G>GCAGCAGCAA	X	149639642	149639659	G	GCAGCAGCAA	MAMLD1	c.1806_1814dup	NM_005491.5	NP_005482.2:p.(Gln604_Gln606dup)	NC_000023.10:g.149639651_149639659dup	VUS	1 lab	72d357a0ed
13:111102635 COL4A2 A>C	13	111102635	111102635	A	C	COL4A2	c.1190-17A>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111102635A>C	(Likely) benign	1 lab	72d3e5b2d9
5:66461391 MAST4 G>C	5	66461391	66461391	G	C	MAST4	c.6384G>C	NM_001164664.2	NP_001158136.1:p.(Arg2128Ser)	NC_000005.9:g.66461391G>C	VUS	1 lab	72d73865db
14:74973485 LTBP2 C>T	14	74973485	74973485	C	T	LTBP2	c.3949G>A	NM_000428.3	NP_000419.1:p.(Gly1317Ser)	NC_000014.8:g.74973485C>T	VUS	1 lab	72d8e68ff2
8:146016862 RPL8 T>C	8	146016862	146016862	T	C	RPL8	c.299A>G	NM_001317782.2	NP_001304711.1:p.(Asn100Ser)	NC_000008.10:g.146016862T>C	VUS	1 lab	72d8f3dfe5
1:240371433 FMN2 ACCT>A	1	240371433	240371441	ACCT	A	FMN2	c.3327_3329del	NM_020066.5	NP_064450.3:p.(Pro1112del)	NC_000001.10:g.240371439_240371441del	(Likely) benign	1 lab	72d98e2c34
19:39056409 RYR1 G>T	19	39056409	39056409	G	T	RYR1	c.13435G>T	NM_000540.3	NP_000531.2:p.(Gly4479Trp)	NC_000019.9:g.39056409G>T	VUS	1 lab	72da229562
1:20645914 VWA5B1 T>A	1	20645914	20645914	T	A	VWA5B1	c.881T>A	NM_001039500.3	NP_001034589.2:p.(Met294Lys)	NC_000001.10:g.20645914T>A	VUS	1 lab	72da67692b
1:237991696 RYR2 C>A	1	237991696	237991696	C	A	RYR2	c.14606C>A	NM_001035.3	NP_001026.2:p.(Ala4869Asp)	NC_000001.10:g.237991696C>A	(Likely) pathogenic	1 lab	72daaa51c6
21:34960634 DONSON G>C	21	34960634	34960634	G	C	DONSON	c.314C>G	NM_017613.4	NP_060083.1:p.(Pro105Arg)	NC_000021.8:g.34960634G>C	(Likely) benign	1 lab	72db26b278
1:181767762 CACNA1E G>T	1	181767762	181767762	G	T	CACNA1E	c.6734G>T	NM_001205293.3	NP_001192222.1:p.(Gly2245Val)	NC_000001.10:g.181767762G>T	VUS	1 lab	72dc46013d
7:92734128 SAMD9 A>C	7	92734128	92734128	A	C	SAMD9	c.1283T>G	NM_017654.4	NP_060124.2:p.(Leu428Ter)	NC_000007.13:g.92734128A>C	VUS	1 lab	72dcc46f17
1:16907416 NBPF1 T>G	1	16907416	16907416	T	G	NBPF1	c.1415A>C	NM_001405666.3	NP_001392595.1:p.(Glu472Ala)	NC_000001.10:g.16907416T>G	(Likely) benign	1 lab	72ddde7cfb
12:81110885 MYF5 T>C	12	81110885	81110885	T	C	MYF5	c.43T>C	NM_005593.3	NP_005584.2:p.(Phe15Leu)	NC_000012.11:g.81110885T>C	VUS	1 lab	72e0540c44
1:8419925 RERE C>T	1	8419925	8419925	C	T	RERE	c.3517G>A	NM_001042681.2	NP_001036146.1:p.(Glu1173Lys)	NC_000001.10:g.8419925C>T	VUS	1 lab	72e08db488
12:52965216 KRT74 A>T	12	52965216	52965216	A	T	KRT74	c.770T>A	NM_175053.4	NP_778223.2:p.(Val257Asp)	NC_000012.11:g.52965216A>T	(Likely) benign	1 lab	72e0a3c4c9
14:105239921 AKT1 C>T	14	105239921	105239921	C	T	AKT1	c.703-4G>A	NM_001382430.1	NP_001369359.1:p.?	NC_000014.8:g.105239921C>T	(Likely) benign	1 lab	72e0d926bc
6:86195016 NT5E G>A	6	86195016	86195016	G	A	NT5E	c.815G>A	NM_002526.4	NP_002517.1:p.(Gly272Glu)	NC_000006.11:g.86195016G>A	VUS	1 lab	72e0dd73a9
15:48796005 FBN1 G>A	15	48796005	48796005	G	A	FBN1	c.2092C>T	NM_000138.5	NP_000129.3:p.(Pro698Ser)	NC_000015.9:g.48796005G>A	VUS	1 lab	72e61a3bd5
X:135956480 RBMX C>A	X	135956480	135956480	C	A	RBMX	c.997G>T	NM_002139.4	NP_002130.2:p.(Asp333Tyr)	NC_000023.10:g.135956480C>A	VUS	1 lab	72e6f5cd5f
11:9200618 DENND5A C>T	11	9200618	9200618	C	T	DENND5A	c.1458G>A	NM_015213.4	NP_056028.2:p.(Leu486=)	NC_000011.9:g.9200618C>T	(Likely) benign	1 lab	72eb666239
12:125473454 DHX37 ATG>A	12	125473454	125473457	ATG	A	DHX37	c.106+7_106+8del	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125473456_125473457del	(Likely) benign	1 lab	72ecc06d46
13:99083460 FARP1 T>C	13	99083460	99083460	T	C	FARP1	c.2069T>C	NM_005766.4	NP_005757.1:p.(Met690Thr)	NC_000013.10:g.99083460T>C	VUS	1 lab	72ed83902a
16:23614788 PALB2 A>G	16	23614788	23614788	A	G	PALB2	c.3553T>C	NM_024675.4	NP_078951.2:p.(Tyr1185His)	NC_000016.9:g.23614788A>G	VUS	1 lab	72ef1e22af
1:84641498 PRKACB CA>C	1	84641498	84641499	CA	C	PRKACB	c.188-3361del	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84641499del	(Likely) benign	1 lab	72efce7e9f
4:126242414 FAT4 A>T	4	126242414	126242414	A	T	FAT4	c.4848A>T	NM_001291303.3	NP_001278232.1:p.(Glu1616Asp)	NC_000004.11:g.126242414A>T	(Likely) benign	1 lab	72efdaaaa2
3:81698092 GBE1 A>C	3	81698092	81698092	A	C	GBE1	c.606T>G	NM_000158.4	NP_000149.4:p.(Ser202=)	NC_000003.11:g.81698092A>C	VUS	1 lab	72f16bc8d4
15:101718068 CHSY1 C>T	15	101718068	101718068	C	T	CHSY1	c.1934G>A	NM_014918.5	NP_055733.2:p.(Arg645Gln)	NC_000015.9:g.101718068C>T	VUS	1 lab	72f21d92f4
5:13882927 DNAH5 A>G	5	13882927	13882927	A	G	DNAH5	c.3175-3T>C	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13882927A>G	(Likely) benign	1 lab	72f28da464
19:54972545 LENG8 G>T	19	54972545	54972545	G	T	LENG8	c.*437G>T	NM_052925.4	NP_443157.1:p.?	NC_000019.9:g.54972545G>T	(Likely) benign	1 lab	72f387ec45
11:58920249 FAM111A G>A	11	58920249	58920249	G	A	FAM111A	c.1108G>A	NM_001312909.2	NP_001299838.1:p.(Ala370Thr)	NC_000011.9:g.58920249G>A	(Likely) benign	1 lab	72f59d4646
12:49226361 DDX23 G>A	12	49226361	49226361	G	A	DDX23	c.1804-5C>T	NM_004818.3	NP_004809.2:p.?	NC_000012.11:g.49226361G>A	(Likely) benign	1 lab	72f5f97bc0
15:89386566 ACAN G>T	15	89386566	89386566	G	T	ACAN	c.758-20G>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386566G>T	(Likely) benign	1 lab	72f708c6f1
15:99434774 IGF1R C>T	15	99434774	99434774	C	T	IGF1R	c.861C>T	NM_000875.5	NP_000866.1:p.(Ser287=)	NC_000015.9:g.99434774C>T	(Likely) benign	1 lab	72f789a2c0
19:20807247 ZNF626 C>T	19	20807247	20807247	C	T	ZNF626	c.1436G>A	NM_001076675.3	NP_001070143.1:p.(Arg479Lys)	NC_000019.9:g.20807247C>T	(Likely) benign	1 lab	72f7c3913f
13:31729776 HSPH1 T>G	13	31729776	31729776	T	G	HSPH1	c.181A>C	NM_006644.4	NP_006635.2:p.(Asn61His)	NC_000013.10:g.31729776T>G	(Likely) benign	1 lab	72f84f1d66
10:89623898 PTEN C>G	10	89623898	89623898	C	G	PTEN	c.-329C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623898C>G	VUS	1 lab	72faed5c33
11:31824282 PAX6 G>C	11	31824282	31824282	G	C	PAX6	c.111C>G	NM_001368894.2	NP_001355823.1:p.(Ala37=)	NC_000011.9:g.31824282G>C	(Likely) benign	1 lab	72fb830734
6:116441615 COL10A1 G>A	6	116441615	116441615	G	A	COL10A1	c.1664C>T	NM_000493.4	NP_000484.2:p.(Thr555Ile)	NC_000006.11:g.116441615G>A	VUS	1 lab	72fdf55b10
3:142243038 ATR T>G	3	142243038	142243038	T	G	ATR	c.3949A>C	NM_001184.4	NP_001175.2:p.(Lys1317Gln)	NC_000003.11:g.142243038T>G	VUS	1 lab	72ff2c9a42
15:99486163 IGF1R A>C	15	99486163	99486163	A	C	IGF1R	c.3469A>C	NM_000875.5	NP_000866.1:p.(Thr1157Pro)	NC_000015.9:g.99486163A>C	VUS	1 lab	7300157909
9:87317271 NTRK2 T>C	9	87317271	87317271	T	C	NTRK2	c.296T>C	NM_006180.6	NP_006171.2:p.(Val99Ala)	NC_000009.11:g.87317271T>C	VUS	1 lab	7300b2d5cc
19:15376305 BRD4 G>A	19	15376305	15376305	G	A	BRD4	c.709C>T	NM_001379291.1	NP_001366220.1:p.(Pro237Ser)	NC_000019.9:g.15376305G>A	VUS	1 lab	73020e6081
19:21910299 ZNF100 C>T	19	21910299	21910299	C	T	ZNF100	c.815G>A	NM_173531.4	NP_775802.2:p.(Arg272Gln)	NC_000019.9:g.21910299C>T	VUS	1 lab	7302b615bf
16:53706849 RPGRIP1L C>T	16	53706849	53706849	C	T	RPGRIP1L	c.962G>A	NM_015272.5	NP_056087.2:p.(Arg321His)	NC_000016.9:g.53706849C>T	VUS	1 lab	7304644ec6
7:114269674 FOXP2 T>A	7	114269674	114269674	T	A	FOXP2	c.397-186T>A	NM_014491.4	NP_055306.1:p.?	NC_000007.13:g.114269674T>A	(Likely) benign	1 lab	7304ddc696
22:40074102 CACNA1I G>A	22	40074102	40074102	G	A	CACNA1I	c.5044G>A	NM_021096.4	NP_066919.2:p.(Gly1682Arg)	NC_000022.10:g.40074102G>A	VUS	1 lab	7306a23dd7
16:1251686 CACNA1H C>T	16	1251686	1251686	C	T	CACNA1H	c.1236C>T	NM_021098.3	NP_066921.2:p.(Asn412=)	NC_000016.9:g.1251686C>T	(Likely) benign	1 lab	2451c2809c
X:63406007 AMER1 C>G	X	63406007	63406007	C	G	AMER1	c.*3752G>C	NM_152424.4	NP_689637.3:p.?	NC_000023.10:g.63406007C>G	(Likely) benign	1 lab	7307de2edb
2:36706700 CRIM1 A>C	2	36706700	36706700	A	C	CRIM1	c.1235A>C	NM_016441.3	NP_057525.1:p.(His412Pro)	NC_000002.11:g.36706700A>C	(Likely) benign	1 lab	7308e01844
19:13323296 CACNA1A C>G	19	13323296	13323296	C	G	CACNA1A	c.6091G>C	NM_001127222.2	NP_001120694.1:p.(Val2031Leu)	NC_000019.9:g.13323296C>G	(Likely) benign	1 lab	7309883a61
7:151845223 KMT2C G>A	7	151845223	151845223	G	A	KMT2C	c.13789C>T	NM_170606.3	NP_733751.2:p.(Arg4597Cys)	NC_000007.13:g.151845223G>A	(Likely) benign	1 lab	7309dd7b17
14:102449611 DYNC1H1 A>T	14	102449611	102449611	A	T	DYNC1H1	c.1217A>T	NM_001376.5	NP_001367.2:p.(Tyr406Phe)	NC_000014.8:g.102449611A>T	(Likely) benign	1 lab	730a3477e1
17:78247164 RNF213 C>T	17	78247164	78247164	C	T	RNF213	c.222C>T	NM_001256071.3	NP_001243000.2:p.(Pro74=)	NC_000017.10:g.78247164C>T	(Likely) benign	1 lab	730a7ef121
4:88536173 DSPP G>A	4	88536173	88536173	G	A	DSPP	c.2359G>A	NM_014208.3	NP_055023.2:p.(Asp787Asn)	NC_000004.11:g.88536173G>A	(Likely) benign	1 lab	730c8171c5
16:69369157 COG8 C>T	16	69369157	69369157	C	T	COG8	c.680G>A	NM_032382.5	NP_115758.3:p.(Arg227His)	NC_000016.9:g.69369157C>T	VUS	1 lab	730ddccb1e
5:179260766 SQSTM1 C>A	5	179260766	179260766	C	A	SQSTM1	c.1149C>A	NM_003900.5	NP_003891.1:p.(Tyr383Ter)	NC_000005.9:g.179260766C>A	(Likely) pathogenic	1 lab	730e752eb8
20:49510427 ADNP G>A	20	49510427	49510427	G	A	ADNP	c.824C>T	NM_001282531.3	NP_001269460.1:p.(Pro275Leu)	NC_000020.10:g.49510427G>A	(Likely) benign	1 lab	730ecb8d15
6:51890068 PKHD1 C>G	6	51890068	51890068	C	G	PKHD1	c.4540G>C	NM_138694.4	NP_619639.3:p.(Asp1514His)	NC_000006.11:g.51890068C>G	VUS	1 lab	730f8196b9
20:60902291 LAMA5 G>A	20	60902291	60902291	G	A	LAMA5	c.5110C>T	NM_005560.6	NP_005551.3:p.(Arg1704Trp)	NC_000020.10:g.60902291G>A	VUS	1 lab	73101c8781
X:67741262 YIPF6 A>C	X	67741262	67741262	A	C	YIPF6	c.357A>C	NM_173834.4	NP_776195.2:p.(Gln119His)	NC_000023.10:g.67741262A>C	(Likely) benign	1 lab	7312a23828
4:5800359 EVC A>G	4	5800359	5800359	A	G	EVC	c.2144A>G	NM_153717.3	NP_714928.1:p.(Gln715Arg)	NC_000004.11:g.5800359A>G	VUS	1 lab	73130a9714
3:25648733 TOP2B T>A	3	25648733	25648733	T	A	TOP2B	c.4227A>T	NM_001330700.2	NP_001317629.1:p.(Glu1409Asp)	NC_000003.11:g.25648733T>A	VUS	1 lab	731337e397
22:18371970 MICAL3 T>C	22	18371970	18371970	T	C	MICAL3	c.1721A>G	NM_015241.3	NP_056056.2:p.(Asn574Ser)	NC_000022.10:g.18371970T>C	VUS	1 lab	73139d3922
17:62038768 SCN4A A>G	17	62038768	62038768	A	G	SCN4A	c.1630T>C	NM_000334.4	NP_000325.4:p.(Cys544Arg)	NC_000017.10:g.62038768A>G	VUS	1 lab	7314771cce
13:114157828 SLC9D1 G>C	13	114157828	114157828	G	C	SLC9D1	c.963G>C	NM_017905.6	NP_060375.4:p.(Glu321Asp)	NC_000013.10:g.114157828G>C	VUS	1 lab	731500882e
15:100801674 ADAMTS17 C>T	15	100801674	100801674	C	T	ADAMTS17	c.1031+10G>A	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100801674C>T	(Likely) benign	1 lab	7315585cf2
16:89351554 ANKRD11 C>A	16	89351554	89351554	C	A	ANKRD11	c.1396G>T	NM_013275.6	NP_037407.4:p.(Glu466Ter)	NC_000016.9:g.89351554C>A	(Likely) pathogenic	1 lab	73164d7a1f
19:15355060 BRD4 C>T	19	15355060	15355060	C	T	BRD4	c.2563G>A	NM_001379291.1	NP_001366220.1:p.(Ala855Thr)	NC_000019.9:g.15355060C>T	(Likely) benign	1 lab	73170d749e
20:57036352 APCDD1L C>T	20	57036352	57036352	C	T	APCDD1L	c.1000G>A	NM_153360.3	NP_699191.1:p.(Gly334Ser)	NC_000020.10:g.57036352C>T	VUS	1 lab	7318035b1c
8:133764112 TMEM71 T>C	8	133764112	133764112	T	C	TMEM71	c.233A>G	NM_001382403.1	NP_001369332.1:p.(Asp78Gly)	NC_000008.10:g.133764112T>C	(Likely) benign	1 lab	73182c2dcb
17:80045889 FASN C>T	17	80045889	80045889	C	T	FASN	c.2807G>A	NM_004104.5	NP_004095.4:p.(Arg936Gln)	NC_000017.10:g.80045889C>T	(Likely) benign	1 lab	73188c9444
16:2159189 PKD1 T>C	16	2159189	2159189	T	C	PKD1	c.5979A>G	NM_001009944.3	NP_001009944.3:p.(Thr1993=)	NC_000016.9:g.2159189T>C	(Likely) benign	1 lab	7318b6b261
2:50573817 NRXN1 T>C	2	50573817	50573817	T	C	NRXN1	c.3485-109709A>G	NM_001135659.3	NP_001129131.1:p.?	NC_000002.11:g.50573817T>C	(Likely) benign	1 lab	2305d52b1e
9:73168202 TRPM3 C>T	9	73168202	73168202	C	T	TRPM3	c.3248G>A	NM_001366145.2	NP_001353074.1:p.(Arg1083Gln)	NC_000009.11:g.73168202C>T	VUS	1 lab	731c340c27
15:90209025 PLIN1 C>T	15	90209025	90209025	C	T	PLIN1	c.1358G>A	NM_002666.5	NP_002657.3:p.(Arg453His)	NC_000015.9:g.90209025C>T	(Likely) benign	1 lab	731d13c324
3:126733558 PLXNA1 G>A	3	126733558	126733558	G	A	PLXNA1	c.2761G>A	NM_032242.4	NP_115618.3:p.(Val921Ile)	NC_000003.11:g.126733558G>A	VUS	1 lab	731d24b93e
18:28935182 DSG1 G>A	18	28935182	28935182	G	A	DSG1	c.3023G>A	NM_001942.4	NP_001933.2:p.(Gly1008Glu)	NC_000018.9:g.28935182G>A	(Likely) benign	1 lab	731d5602c8
6:24302046 DCDC2 G>C	6	24302046	24302046	G	C	DCDC2	c.454C>G	NM_016356.5	NP_057440.2:p.(Pro152Ala)	NC_000006.11:g.24302046G>C	(Likely) benign	1 lab	731e689bf0
X:48652425 GATA1 G>C	X	48652425	48652425	G	C	GATA1	c.1096G>C	NM_002049.4	NP_002040.1:p.(Gly366Arg)	NC_000023.10:g.48652425G>C	VUS	1 lab	731f72d446
16:2816663 SRRM2 G>A	16	2816663	2816663	G	A	SRRM2	c.6134G>A	NM_016333.4	NP_057417.3:p.(Arg2045His)	NC_000016.9:g.2816663G>A	(Likely) benign	1 lab	731fce27fd
1:220284182 IARS2 A>G	1	220284182	220284182	A	G	IARS2	c.1382A>G	NM_018060.4	NP_060530.3:p.(His461Arg)	NC_000001.10:g.220284182A>G	VUS	1 lab	7321bdd9c0
8:143957255 CYP11B1 G>C	8	143957255	143957255	G	C	CYP11B1	c.994C>G	NM_000497.4	NP_000488.3:p.(Arg332Gly)	NC_000008.10:g.143957255G>C	VUS	1 lab	7322b4cec1
9:123725905 C5 A>T	9	123725905	123725905	A	T	C5	c.4323+9T>A	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123725905A>T	(Likely) benign	1 lab	73279028f8
X:2942133 ARSH G>C	X	2942133	2942133	G	C	ARSH	c.973G>C	NM_001011719.2	NP_001011719.1:p.(Gly325Arg)	NC_000023.10:g.2942133G>C	VUS	1 lab	732a780319
5:114860613 FEM1C A>G	5	114860613	114860613	A	G	FEM1C	c.1246T>C	NM_020177.3	NP_064562.1:p.(Cys416Arg)	NC_000005.9:g.114860613A>G	VUS	1 lab	732a7f0c8b
16:56368687 GNAO1 A>C	16	56368687	56368687	A	C	GNAO1	c.511A>C	NM_020988.3	NP_066268.1:p.(Thr171Pro)	NC_000016.9:g.56368687A>C	(Likely) pathogenic	1 lab	732a81425e
X:3235417 MXRA5 A>G	X	3235417	3235417	A	G	MXRA5	c.6305T>C	NM_015419.4	NP_056234.2:p.(Phe2102Ser)	NC_000023.10:g.3235417A>G	VUS	1 lab	732ae45754
11:62294727 AHNAK TAGAGATTTTGGGAG>T	11	62294727	62294741	TAGAGATTTTGGGAG	T	AHNAK	c.7148_7161del	NM_001620.3	NP_001611.1:p.(Ala2383AspfsTer29)	NC_000011.9:g.62294728_62294741del	(Likely) benign	1 lab	732bf945d4
12:133351739 GOLGA3 G>A	12	133351739	133351739	G	A	GOLGA3	c.4131C>T	NM_001389683.1	NP_001376612.1:p.(Gly1377=)	NC_000012.11:g.133351739G>A	VUS	1 lab	732c1b9bb2
16:23649177 PALB2 G>A	16	23649177	23649177	G	A	PALB2	c.205C>T	NM_024675.4	NP_078951.2:p.(His69Tyr)	NC_000016.9:g.23649177G>A	VUS	1 lab	732c46a6d8
10:127464252 MMP21 T>C	10	127464252	127464252	T	C	MMP21	c.139A>G	NM_147191.1	NP_671724.1:p.(Ile47Val)	NC_000010.10:g.127464252T>C	(Likely) benign	1 lab	732f17e19f
14:33293891 AKAP6 C>A	14	33293891	33293891	C	A	AKAP6	c.6872C>A	NM_004274.5	NP_004265.3:p.(Ala2291Asp)	NC_000014.8:g.33293891C>A	(Likely) benign	1 lab	73302f81a2
18:33257641 GALNT1 G>A	18	33257641	33257641	G	A	GALNT1	c.401G>A	NM_020474.4	NP_065207.2:p.(Arg134Gln)	NC_000018.9:g.33257641G>A	VUS	1 lab	7333563dc0
10:76979070 VDAC2 A>G	10	76979070	76979070	A	G	VDAC2	c.312A>G	NM_001391963.1	NP_001378892.1:p.(Gln104=)	NC_000010.10:g.76979070A>G	(Likely) benign	1 lab	733403e5db
17:80895950 TBCD G>A	17	80895950	80895950	G	A	TBCD	c.3307G>A	NM_005993.5	NP_005984.3:p.(Gly1103Ser)	NC_000017.10:g.80895950G>A	VUS	1 lab	73341830a7
15:44165379 FRMD5 ATGC>A	15	44165379	44165387	ATGC	A	FRMD5	c.*701_*703del	NM_032892.5	NP_116281.2:p.?	NC_000015.9:g.44165385_44165387del	VUS	1 lab	7337dbc4dd
1:100336354 AGL T>G	1	100336354	100336354	T	G	AGL	c.887T>G	NM_000642.3	NP_000633.2:p.(Leu296Arg)	NC_000001.10:g.100336354T>G	VUS	1 lab	7339410b56
2:27670426 IFT172 G>A	2	27670426	27670426	G	A	IFT172	c.4615C>T	NM_015662.3	NP_056477.1:p.(His1539Tyr)	NC_000002.11:g.27670426G>A	VUS	1 lab	733a15ec41
8:126056113 WASHC5 G>T	8	126056113	126056113	G	T	WASHC5	c.2804C>A	NM_014846.4	NP_055661.3:p.(Ala935Asp)	NC_000008.10:g.126056113G>T	VUS	1 lab	733ba068a5
1:979349 AGRN G>A	1	979349	979349	G	A	AGRN	c.1945G>A	NM_198576.4	NP_940978.2:p.(Ala649Thr)	NC_000001.10:g.979349G>A	(Likely) benign	1 lab	733bf3d6da
4:111539724 PITX2 A>T	4	111539724	111539724	A	T	PITX2	c.532T>A	NM_000325.6	NP_000316.2:p.(Tyr178Asn)	NC_000004.11:g.111539724A>T	(Likely) benign	1 lab	733c41cf52
19:16591434 CALR3 G>A	19	16591434	16591434	G	A	CALR3	c.1002C>T	NM_145046.5	NP_659483.2:p.(Gly334=)	NC_000019.9:g.16591434G>A	(Likely) benign	1 lab	733cd120ee
1:16256187 SPEN A>G	1	16256187	16256187	A	G	SPEN	c.3452A>G	NM_015001.3	NP_055816.2:p.(His1151Arg)	NC_000001.10:g.16256187A>G	(Likely) benign	1 lab	733e3a1d51
2:202410332 CATSPERT C>A	2	202410332	202410332	C	A	CATSPERT	c.1096G>T	NM_001168221.2	NP_001161693.1:p.(Asp366Tyr)	NC_000002.11:g.202410332C>A	VUS	1 lab	7343661222
4:5642332 EVC2 A>C	4	5642332	5642332	A	C	EVC2	c.1379T>G	NM_147127.5	NP_667338.3:p.(Leu460Arg)	NC_000004.11:g.5642332A>C	VUS	1 lab	2307b72f02
20:34773126 EPB41L1 C>T	20	34773126	34773126	C	T	EPB41L1	c.654C>T	NM_012156.2	NP_036288.2:p.(Tyr218=)	NC_000020.10:g.34773126C>T	(Likely) benign	1 lab	7344345fdd
1:228564796 OBSCN G>A	1	228564796	228564796	G	A	OBSCN	c.25954G>A	NM_001386125.1	NP_001373054.1:p.(Gly8652Arg)	NC_000001.10:g.228564796G>A	VUS	1 lab	73458b6cde
11:30032402 KCNA4 C>G	11	30032402	30032402	C	G	KCNA4	c.1824G>C	NM_002233.4	NP_002224.1:p.(Lys608Asn)	NC_000011.9:g.30032402C>G	VUS	1 lab	7345d4ef5a
X:99854088 TNMD A>G	X	99854088	99854088	A	G	TNMD	c.653A>G	NM_022144.3	NP_071427.2:p.(Gln218Arg)	NC_000023.10:g.99854088A>G	VUS	1 lab	73475755d3
13:32893198 BRCA2 T>A	13	32893198	32893198	T	A	BRCA2	c.68-16T>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893198T>A	(Likely) benign	1 lab	734770e175
16:3304323 MEFV T>C	16	3304323	3304323	T	C	MEFV	c.745A>G	NM_000243.3	NP_000234.1:p.(Thr249Ala)	NC_000016.9:g.3304323T>C	(Likely) benign	1 lab	7347eef051
17:61995761 GH1 G>A	17	61995761	61995761	G	A	GH1	c.116C>T	NM_000515.5	NP_000506.2:p.(Ala39Val)	NC_000017.10:g.61995761G>A	(Likely) benign	1 lab	7348340b33
9:101891320 TGFBR1 C>T	9	101891320	101891320	C	T	TGFBR1	c.281C>T	NM_004612.4	NP_004603.1:p.(Ser94Phe)	NC_000009.11:g.101891320C>T	VUS	1 lab	7349a9952e
7:21847581 DNAH11 G>A	7	21847581	21847581	G	A	DNAH11	c.10246G>A	NM_001277115.2	NP_001264044.1:p.(Ala3416Thr)	NC_000007.13:g.21847581G>A	VUS	1 lab	734b799eda
20:33511215 ACSS2 A>AGGCCGGGCGCGG	20	33511215	33511216	A	AGGCCGGGCGCGG	ACSS2	c.1638_1639insGGCCGGGCGCGG	NM_018677.4	NP_061147.1:p.(Gly546_Tyr547insGlyArgAlaArg)	NC_000020.10:g.33511215_33511216insGGCCGGGCGCGG	VUS	1 lab	734c6a7af4
X:54265541 WNK3 GACAAAACAAAACAAAACAAA>G	X	54265541	54265590	GACAAAACAAAACAAAACAAA	G	WNK3	c.3652-29_3652-10del	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54265571_54265590del	VUS	1 lab	734f43d0c6
14:75143386 AREL1 G>A	14	75143386	75143386	G	A	AREL1	c.551C>T	NM_001039479.2	NP_001034568.1:p.(Pro184Leu)	NC_000014.8:g.75143386G>A	VUS	1 lab	734f7a6365
19:50385368 TBC1D17 C>T	19	50385368	50385368	C	T	TBC1D17	c.598C>T	NM_024682.3	NP_078958.2:p.(His200Tyr)	NC_000019.9:g.50385368C>T	(Likely) benign	1 lab	735063a505
10:120928765 PRDX3 C>T	10	120928765	120928765	C	T	PRDX3	c.641G>A	NM_006793.5	NP_006784.1:p.(Arg214His)	NC_000010.10:g.120928765C>T	VUS	1 lab	735192b1dc
20:60892769 LAMA5 G>A	20	60892769	60892769	G	A	LAMA5	c.7305C>T	NM_005560.6	NP_005551.3:p.(Asp2435=)	NC_000020.10:g.60892769G>A	(Likely) benign	1 lab	73533f41f7
8:100844859 VPS13B G>A	8	100844859	100844859	G	A	VPS13B	c.9593G>A	NM_152564.5	NP_689777.3:p.(Arg3198Gln)	NC_000008.10:g.100844859G>A	(Likely) benign	1 lab	73536ab22f
1:40315898 TRIT1 T>G	1	40315898	40315898	T	G	TRIT1	c.596A>C	NM_017646.6	NP_060116.2:p.(His199Pro)	NC_000001.10:g.40315898T>G	VUS	1 lab	735387fc94
7:65446986 GUSB T>C	7	65446986	65446986	T	C	GUSB	c.185A>G	NM_000181.4	NP_000172.2:p.(Gln62Arg)	NC_000007.13:g.65446986T>C	VUS	1 lab	7355650898
17:61176556 TANC2 G>A	17	61176556	61176556	G	A	TANC2	c.160G>A	NM_001394998.1	NP_001381927.1:p.(Asp54Asn)	NC_000017.10:g.61176556G>A	(Likely) benign	1 lab	735630ccf0
16:24801562 TNRC6A ATG>A	16	24801562	24801565	ATG	A	TNRC6A	c.1601_1602del	NM_014494.4	NP_055309.2:p.(Cys534PhefsTer4)	NC_000016.9:g.24801564_24801565del	VUS	1 lab	73583c0e5f
X:9863374 SHROOM2 G>C	X	9863374	9863374	G	C	SHROOM2	c.1426G>C	NM_001649.4	NP_001640.1:p.(Gly476Arg)	NC_000023.10:g.9863374G>C	VUS	1 lab	73588f1ef6
1:201178286 IGFN1 C>T	1	201178286	201178286	C	T	IGFN1	c.4265C>T	NM_001164586.2	NP_001158058.1:p.(Ser1422Leu)	NC_000001.10:g.201178286C>T	(Likely) benign	1 lab	73592c2f75
16:4457505 CORO7 T>G	16	4457505	4457505	T	G	CORO7	c.484A>C	NM_024535.5	NP_078811.3:p.(Thr162Pro)	NC_000016.9:g.4457505T>G	(Likely) benign	1 lab	735af0cdc9
11:64064963 KCNK4 G>C	11	64064963	64064963	G	C	KCNK4	c.499G>C	NM_033310.3	NP_201567.1:p.(Val167Leu)	NC_000011.9:g.64064963G>C	VUS	1 lab	735c682f0a
3:178917649 PIK3CA C>G	3	178917649	178917649	C	G	PIK3CA	c.524C>G	NM_006218.4	NP_006209.2:p.(Pro175Arg)	NC_000003.11:g.178917649C>G	VUS	1 lab	735c6d37b0
12:106890644 POLR3B C>T	12	106890644	106890644	C	T	POLR3B	c.2932C>T	NM_018082.6	NP_060552.4:p.(Arg978Cys)	NC_000012.11:g.106890644C>T	VUS	1 lab	735cf55790
4:1805451 FGFR3 A>G	4	1805451	1805451	A	G	FGFR3	c.963A>G	NM_000142.5	NP_000133.1:p.(Leu321=)	NC_000004.11:g.1805451A>G	(Likely) benign	1 lab	735e2f73a7
8:144886085 SCRIB C>T	8	144886085	144886085	C	T	SCRIB	c.3146G>A	NM_182706.5	NP_874365.3:p.(Arg1049His)	NC_000008.10:g.144886085C>T	VUS	1 lab	735e64146e
2:170048390 LRP2 T>G	2	170048390	170048390	T	G	LRP2	c.8984A>C	NM_004525.3	NP_004516.2:p.(Glu2995Ala)	NC_000002.11:g.170048390T>G	VUS	1 lab	735fa94bd0
8:43014169 HGSNAT C>G	8	43014169	43014169	C	G	HGSNAT	c.475C>G	NM_152419.3	NP_689632.2:p.(Pro159Ala)	NC_000008.10:g.43014169C>G	VUS	1 lab	735ff33a13
10:71703929 COL13A1 G>A	10	71703929	71703929	G	A	COL13A1	c.1963G>A	NM_001368882.1	NP_001355811.1:p.(Glu655Lys)	NC_000010.10:g.71703929G>A	VUS	1 lab	7363a7d9a4
21:35257388 ITSN1 A>G	21	35257388	35257388	A	G	ITSN1	c.4720A>G	NM_003024.3	NP_003015.2:p.(Ile1574Val)	NC_000021.8:g.35257388A>G	VUS	1 lab	7364fb5643
1:156212614 BGLAP A>G	1	156212614	156212614	A	G	BGLAP	c.165A>G	NM_199173.6	NP_954642.1:p.(Gln55=)	NC_000001.10:g.156212614A>G	(Likely) benign	1 lab	7365fd4fdb
12:51121597 DIP2B T>C	12	51121597	51121597	T	C	DIP2B	c.3510+2T>C	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51121597T>C	VUS	1 lab	2307d18204
14:92949150 SLC24A4 C>T	14	92949150	92949150	C	T	SLC24A4	c.1382C>T	NM_153646.4	NP_705932.2:p.(Thr461Met)	NC_000014.8:g.92949150C>T	VUS	1 lab	73677c3b64
13:78492729 EDNRB G>A	13	78492729	78492729	G	A	EDNRB	c.-21C>T	NM_001122659.3	NP_001116131.1:p.?	NC_000013.10:g.78492729G>A	VUS	1 lab	7369600e37
16:2809402 SRRM2 C>T	16	2809402	2809402	C	T	SRRM2	c.739C>T	NM_016333.4	NP_057417.3:p.(Arg247Trp)	NC_000016.9:g.2809402C>T	VUS	1 lab	736962f714
12:116428873 MED13L C>T	12	116428873	116428873	C	T	MED13L	c.3886G>A	NM_015335.5	NP_056150.1:p.(Glu1296Lys)	NC_000012.11:g.116428873C>T	VUS	1 lab	7369759d2c
X:140993908 MAGEC1 T>G	X	140993908	140993908	T	G	MAGEC1	c.718T>G	NM_005462.5	NP_005453.2:p.(Ser240Ala)	NC_000023.10:g.140993908T>G	VUS	1 lab	736b0a7a0c
7:151878202 KMT2C T>A	7	151878202	151878202	T	A	KMT2C	c.6743A>T	NM_170606.3	NP_733751.2:p.(Asp2248Val)	NC_000007.13:g.151878202T>A	VUS	1 lab	736ce3f878
16:3820853 CREBBP C>A	16	3820853	3820853	C	A	CREBBP	c.2598G>T	NM_004380.3	NP_004371.2:p.(Met866Ile)	NC_000016.9:g.3820853C>A	VUS	1 lab	736dd30c93
1:11190747 MTOR G>A	1	11190747	11190747	G	A	MTOR	c.5452C>T	NM_004958.4	NP_004949.1:p.(Arg1818Cys)	NC_000001.10:g.11190747G>A	VUS	1 lab	736eb51411
14:92471778 TRIP11 T>C	14	92471778	92471778	T	C	TRIP11	c.2542A>G	NM_004239.4	NP_004230.2:p.(Ile848Val)	NC_000014.8:g.92471778T>C	(Likely) benign	1 lab	737056ddc0
8:145535893 HSF1 A>C	8	145535893	145535893	A	C	HSF1	c.1105A>C	NM_005526.4	NP_005517.1:p.(Thr369Pro)	NC_000008.10:g.145535893A>C	(Likely) benign	1 lab	73718319a6
1:167798574 ADCY10 G>A	1	167798574	167798574	G	A	ADCY10	c.3681C>T	NM_018417.6	NP_060887.2:p.(Cys1227=)	NC_000001.10:g.167798574G>A	VUS	1 lab	73725b5d39
5:74962713 ANKDD1B TG>T	5	74962713	74962716	TG	T	ANKDD1B	c.1291del	NM_001276713.2	NP_001263642.1:p.(Asp431ThrfsTer7)	NC_000005.9:g.74962716del	VUS	1 lab	73741b20df
4:79387356 FRAS1 G>A	4	79387356	79387356	G	A	FRAS1	c.7030-6G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79387356G>A	(Likely) pathogenic	1 lab	24529721b3
2:33568033 LTBP1 G>C	2	33568033	33568033	G	C	LTBP1	c.3856+3G>C	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33568033G>C	VUS	1 lab	73753545cd
6:102124561 GRIK2 G>A	6	102124561	102124561	G	A	GRIK2	c.605G>A	NM_021956.5	NP_068775.1:p.(Arg202His)	NC_000006.11:g.102124561G>A	VUS	1 lab	73761cf8af
5:140070864 HARS1 T>C	5	140070864	140070864	T	C	HARS1	c.26A>G	NM_002109.6	NP_002100.2:p.(Glu9Gly)	NC_000005.9:g.140070864T>C	(Likely) benign	1 lab	73780de309
3:111368561 CD96 C>T	3	111368561	111368561	C	T	CD96	c.1618C>T	NM_005816.5	NP_005807.1:p.(Pro540Ser)	NC_000003.11:g.111368561C>T	VUS	1 lab	73798be6b1
5:76355468 AGGF1 T>G	5	76355468	76355468	T	G	AGGF1	c.1744T>G	NM_018046.5	NP_060516.2:p.(Leu582Val)	NC_000005.9:g.76355468T>G	VUS	1 lab	737a297728
X:37026970 FAM47C G>A	X	37026970	37026970	G	A	FAM47C	c.487G>A	NM_001013736.3	NP_001013758.1:p.(Gly163Ser)	NC_000023.10:g.37026970G>A	VUS	1 lab	737a469378
19:14552178 PKN1 G>A	19	14552178	14552178	G	A	PKN1	c.245G>A	NM_002741.5	NP_002732.3:p.(Arg82His)	NC_000019.9:g.14552178G>A	VUS	1 lab	737b58e5df
19:17104239 CPAMD8 T>C	19	17104239	17104239	T	C	CPAMD8	c.1253A>G	NM_015692.5	NP_056507.3:p.(His418Arg)	NC_000019.9:g.17104239T>C	(Likely) benign	1 lab	737c0f906d
X:38533566 TSPAN7 G>A	X	38533566	38533566	G	A	TSPAN7	c.437G>A	NM_004615.4	NP_004606.2:p.(Arg146His)	NC_000023.10:g.38533566G>A	(Likely) benign	1 lab	737c588e09
X:32430166 DMD G>A	X	32430166	32430166	G	A	DMD	c.4072-136C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32430166G>A	(Likely) benign	1 lab	737e219587
11:124767136 ROBO4 G>A	11	124767136	124767136	G	A	ROBO4	c.92C>T	NM_019055.6	NP_061928.4:p.(Pro31Leu)	NC_000011.9:g.124767136G>A	(Likely) benign	1 lab	737f2e70f0
7:100853958 PLOD3 G>A	7	100853958	100853958	G	A	PLOD3	c.1359-4C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853958G>A	(Likely) benign	1 lab	737fae3c40
9:135941951 CEL T>C	9	135941951	135941951	T	C	CEL	c.573T>C	NM_001807.6	NP_001798.3:p.(Ile191=)	NC_000009.11:g.135941951T>C	(Likely) benign	1 lab	73811c296f
19:56171875 U2AF2 C>T	19	56171875	56171875	C	T	U2AF2	c.231-7C>T	NM_007279.3	NP_009210.1:p.?	NC_000019.9:g.56171875C>T	(Likely) benign	1 lab	73817eec1e
10:88469710 LDB3 T>C	10	88469710	88469710	T	C	LDB3	c.1134T>C	NM_007078.3	NP_009009.1:p.(Pro378=)	NC_000010.10:g.88469710T>C	(Likely) benign	1 lab	73818506da
3:47164012 SETD2 G>A	3	47164012	47164012	G	A	SETD2	c.2114C>T	NM_014159.7	NP_054878.5:p.(Ser705Leu)	NC_000003.11:g.47164012G>A	(Likely) benign	1 lab	73833177d3
9:135946836 CEL G>T	9	135946836	135946836	G	T	CEL	c.1947G>T	NM_001807.6	NP_001798.3:p.(Pro649=)	NC_000009.11:g.135946836G>T	(Likely) benign	1 lab	7384b26287
6:1612017 FOXC1 ACGG>A	6	1612017	1612041	ACGG	A	FOXC1	c.1359_1361del	NM_001453.3	NP_001444.2:p.(Gly456del)	NC_000006.11:g.1612039_1612041del	(Likely) benign	1 lab	7386a3188d
16:8895741 PMM2 A>G	16	8895741	8895741	A	G	PMM2	c.152A>G	NM_000303.3	NP_000294.1:p.(Lys51Arg)	NC_000016.9:g.8895741A>G	(Likely) pathogenic	1 lab	738871537c
16:347063 AXIN1 C>T	16	347063	347063	C	T	AXIN1	c.1948G>A	NM_003502.4	NP_003493.1:p.(Gly650Ser)	NC_000016.9:g.347063C>T	(Likely) benign	1 lab	738a7ee4fb
11:2906337 CDKN1C C>A	11	2906337	2906337	C	A	CDKN1C	c.350G>T	NM_001122630.2	NP_001116102.1:p.(Gly117Val)	NC_000011.9:g.2906337C>A	(Likely) benign	1 lab	738aeec7b9
7:152078458 KMT2C C>T	7	152078458	152078458	C	T	KMT2C	c.162-22698G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152078458C>T	(Likely) benign	1 lab	738afb640e
2:37374033 EIF2AK2 G>A	2	37374033	37374033	G	A	EIF2AK2	c.203C>T	NM_001135651.3	NP_001129123.1:p.(Ala68Val)	NC_000002.11:g.37374033G>A	VUS	1 lab	738b97d547
16:88781342 CTU2 C>A	16	88781342	88781342	C	A	CTU2	c.1419+8C>A	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88781342C>A	VUS	1 lab	738cbae7f8
1:158368743 OR10T2 G>A	1	158368743	158368743	G	A	OR10T2	c.514C>T	NM_001004475.1	NP_001004475.1:p.(Pro172Ser)	NC_000001.10:g.158368743G>A	(Likely) benign	1 lab	738e1682cb
2:232143178 ARMC9 A>G	2	232143178	232143178	A	G	ARMC9	c.1551+7A>G	NM_001352754.2	NP_001339683.2:p.?	NC_000002.11:g.232143178A>G	(Likely) benign	1 lab	738e8592f3
16:84792998 USP10 G>A	16	84792998	84792998	G	A	USP10	c.1314G>A	NM_005153.3	NP_005144.2:p.(Pro438=)	NC_000016.9:g.84792998G>A	VUS	1 lab	738fe07af5
3:81584471 GBE1 G>A	3	81584471	81584471	G	A	GBE1	c.1809C>T	NM_000158.4	NP_000149.4:p.(Tyr603=)	NC_000003.11:g.81584471G>A	(Likely) benign	1 lab	73908011b6
4:69403599 UGT2B17 A>G	4	69403599	69403599	A	G	UGT2B17	c.1337T>C	NM_001077.4	NP_001068.1:p.(Leu446Ser)	NC_000004.11:g.69403599A>G	(Likely) benign	1 lab	73918d219b
X:54785423 ITIH6 C>A	X	54785423	54785423	C	A	ITIH6	c.1084G>T	NM_198510.3	NP_940912.1:p.(Val362Phe)	NC_000023.10:g.54785423C>A	(Likely) benign	1 lab	73942727f9
16:2222270 TRAF7 T>G	16	2222270	2222270	T	G	TRAF7	c.554T>G	NM_032271.3	NP_115647.2:p.(Phe185Cys)	NC_000016.9:g.2222270T>G	VUS	1 lab	7394d47040
14:23243573 SLC7A7 C>T	14	23243573	23243573	C	T	SLC7A7	c.1235G>A	NM_003982.4	NP_003973.3:p.(Arg412His)	NC_000014.8:g.23243573C>T	VUS	1 lab	73958125c1
15:66995819 SMAD6 CGAGGCGCCCAGGGCGCGGG>C	15	66995819	66995846	CGAGGCGCCCAGGGCGCGGG	C	SMAD6	c.232_250del	NM_005585.5	NP_005576.3:p.(Gln78GlyfsTer41)	NC_000015.9:g.66995828_66995846del	(Likely) pathogenic	1 lab	7395aa9042
14:102514224 DYNC1H1 G>A	14	102514224	102514224	G	A	DYNC1H1	c.13077G>A	NM_001376.4	NP_001367.2:p.(Glu4359=)	NC_000014.8:g.102514224G>A	(Likely) benign	1 lab	2458196d94
2:88879039 EIF2AK3 T>C	2	88879039	88879039	T	C	EIF2AK3	c.1883A>G	NM_004836.7	NP_004827.4:p.(Asn628Ser)	NC_000002.11:g.88879039T>C	VUS	1 lab	7396543b97
10:73079060 SLC29A3 C>T	10	73079060	73079060	C	T	SLC29A3	c.-7C>T	NM_018344.6	NP_060814.4:p.?	NC_000010.10:g.73079060C>T	(Likely) benign	1 lab	7396c7959d
3:49068036 QRICH1 G>A	3	49068036	49068036	G	A	QRICH1	c.2180C>T	NM_198880.3	NP_942581.1:p.(Thr727Ile)	NC_000003.11:g.49068036G>A	(Likely) benign	1 lab	7397efc0d8
4:155528115 FGG A>G	4	155528115	155528115	A	G	FGG	c.871T>C	NM_021870.3	NP_068656.2:p.(Phe291Leu)	NC_000004.11:g.155528115A>G	VUS	1 lab	739aedd4e1
19:55879687 IL11 T>A	19	55879687	55879687	T	A	IL11	c.320A>T	NM_000641.4	NP_000632.1:p.(His107Leu)	NC_000019.9:g.55879687T>A	VUS	1 lab	747a426c70
9:131763998 NUP188 G>A	9	131763998	131763998	G	A	NUP188	c.4034G>A	NM_015354.3	NP_056169.1:p.(Arg1345His)	NC_000009.11:g.131763998G>A	VUS	1 lab	73a5ded8c5
4:88537555 DSPP C>CGATAGTAGT	4	88537555	88537556	C	CGATAGTAGT	DSPP	c.3741_3742insGATAGTAGT	NM_014208.3	NP_055023.2:p.(Asp1245_Ser1247dup)	NC_000004.11:g.88537555_88537556insGATAGTAGT	(Likely) benign	1 lab	739cdb6b9b
15:93536328 CHD2 A>G	15	93536328	93536328	A	G	CHD2	c.3595+100A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93536328A>G	(Likely) benign	1 lab	245ae45b0a
16:89351565 ANKRD11 GTTTC>G	16	89351565	89351577	GTTTC	G	ANKRD11	c.1381_1384del	NM_013275.6	NP_037407.4:p.(Glu461GlnfsTer48)	NC_000016.9:g.89351574_89351577del	(Likely) pathogenic	1 lab	739d5c21f2
4:126371860 FAT4 C>A	4	126371860	126371860	C	A	FAT4	c.9695C>A	NM_001291303.3	NP_001278232.1:p.(Ala3232Glu)	NC_000004.11:g.126371860C>A	VUS	1 lab	739ef7edcb
17:1756413 RPA1 G>A	17	1756413	1756413	G	A	RPA1	c.291G>A	NM_002945.5	NP_002936.1:p.(Met97Ile)	NC_000017.10:g.1756413G>A	VUS	1 lab	739faae25c
3:43732498 ABHD5 A>C	3	43732498	43732498	A	C	ABHD5	c.14A>C	NM_016006.6	NP_057090.2:p.(Glu5Ala)	NC_000003.11:g.43732498A>C	VUS	1 lab	73a013bf3b
17:42330717 SLC4A1 G>A	17	42330717	42330717	G	A	SLC4A1	c.2080C>T	NM_000342.4	NP_000333.1:p.(Arg694Cys)	NC_000017.10:g.42330717G>A	VUS	1 lab	73a09ad5ea
13:111119457 COL4A2 G>A	13	111119457	111119457	G	A	COL4A2	c.2095+14G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111119457G>A	(Likely) benign	1 lab	73a14dcfe5
15:75968061 CSPG4 C>T	15	75968061	75968061	C	T	CSPG4	c.6799G>A	NM_001897.5	NP_001888.2:p.(Gly2267Ser)	NC_000015.9:g.75968061C>T	(Likely) benign	1 lab	73a2aeb049
9:98220527 PTCH1 T>C	9	98220527	98220527	T	C	PTCH1	c.2936A>G	NM_000264.5	NP_000255.2:p.(Asn979Ser)	NC_000009.11:g.98220527T>C	(Likely) benign	1 lab	73a45ab6e5
12:90020246 ATP2B1 G>T	12	90020246	90020246	G	T	ATP2B1	c.1114C>A	NM_001366521.1	NP_001353450.1:p.(Gln372Lys)	NC_000012.11:g.90020246G>T	VUS	1 lab	73a4e8d965
9:139317608 PMPCA AGTGGCCGC>A	9	139317608	139317616	AGTGGCCGC	A	PMPCA	c.1471_1478del	NM_015160.3	NP_055975.1:p.(Val491ProfsTer3)	NC_000009.11:g.139317609_139317616del	(Likely) pathogenic	1 lab	230d6916ac
11:4104540 STIM1 G>A	11	4104540	4104540	G	A	STIM1	c.1286G>A	NM_001382567.1	NP_001369496.1:p.(Arg429His)	NC_000011.9:g.4104540G>A	VUS	1 lab	73a781bcac
6:37606004 MDGA1 C>T	6	37606004	37606004	C	T	MDGA1	c.2753G>A	NM_153487.4	NP_705691.1:p.(Arg918Gln)	NC_000006.11:g.37606004C>T	VUS	1 lab	73ab0edb76
11:838034 CD151 G>T	11	838034	838034	G	T	CD151	c.702+6G>T	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.838034G>T	(Likely) benign	1 lab	73ac5fedc3
16:30727790 SRCAP A>G	16	30727790	30727790	A	G	SRCAP	c.2807A>G	NM_006662.3	NP_006653.2:p.(His936Arg)	NC_000016.9:g.30727790A>G	(Likely) benign	1 lab	73aea3c8c2
19:39061271 RYR1 AC>A	19	39061271	39061274	AC	A	RYR1	c.13687del	NM_000540.3	NP_000531.2:p.(Leu4563CysfsTer85)	NC_000019.9:g.39061274del	VUS	1 lab	73af22c047
3:155571213 SLC33A1 T>C	3	155571213	155571213	T	C	SLC33A1	c.574A>G	NM_004733.4	NP_004724.1:p.(Thr192Ala)	NC_000003.11:g.155571213T>C	VUS	1 lab	73af405f9c
1:100366273 AGL C>G	1	100366273	100366273	C	G	AGL	c.3444C>G	NM_000642.3	NP_000633.2:p.(Tyr1148Ter)	NC_000001.10:g.100366273C>G	(Likely) pathogenic	1 lab	73cd6d69a2
17:7416582 POLR2A ACCTCTCCCAGCTACTCG>A	17	7416582	7416601	ACCTCTCCCAGCTACTCG	A	POLR2A	c.5002_5018del	NM_000937.5	NP_000928.1:p.(Ser1668HisfsTer11)	NC_000017.10:g.7416585_7416601del	(Likely) benign	1 lab	73afb461be
X:139586260 SOX3 G>C	X	139586260	139586260	G	C	SOX3	c.966C>G	NM_005634.3	NP_005625.2:p.(Asn322Lys)	NC_000023.10:g.139586260G>C	VUS	1 lab	73afb8a12d
13:31897958 B3GLCT C>T	13	31897958	31897958	C	T	B3GLCT	c.1255C>T	NM_194318.4	NP_919299.3:p.(Pro419Ser)	NC_000013.10:g.31897958C>T	VUS	1 lab	73b1f19b65
X:8763253 FAM9A T>TCTC	X	8763253	8763270	T	TCTC	FAM9A	c.694_696dup	NM_174951.3	NP_777611.1:p.(Glu232dup)	NC_000023.10:g.8763268_8763270dup	VUS	1 lab	73b1f1ae75
3:139081299 COPB2 G>A	3	139081299	139081299	G	A	COPB2	c.1945C>T	NM_004766.3	NP_004757.1:p.(Leu649Phe)	NC_000003.11:g.139081299G>A	VUS	1 lab	73b3c4d6a3
X:117676721 DOCK11 G>A	X	117676721	117676721	G	A	DOCK11	c.136G>A	NM_144658.4	NP_653259.3:p.(Glu46Lys)	NC_000023.10:g.117676721G>A	VUS	1 lab	73b4eaa394
12:110252573 TRPV4 G>A	12	110252573	110252573	G	A	TRPV4	c.29C>T	NM_021625.5	NP_067638.3:p.(Ala10Val)	NC_000012.11:g.110252573G>A	(Likely) benign	1 lab	73b51c22d9
17:71397825 SDK2 T>C	17	71397825	71397825	T	C	SDK2	c.2747A>G	NM_001144952.2	NP_001138424.1:p.(Gln916Arg)	NC_000017.10:g.71397825T>C	(Likely) benign	1 lab	73b5ee9cab
7:151904501 KMT2C A>G	7	151904501	151904501	A	G	KMT2C	c.3725T>C	NM_170606.3	NP_733751.2:p.(Met1242Thr)	NC_000007.13:g.151904501A>G	VUS	1 lab	73b7720144
19:3831365 ZFR2 G>A	19	3831365	3831365	G	A	ZFR2	c.788C>T	NM_015174.2	NP_055989.1:p.(Ala263Val)	NC_000019.9:g.3831365G>A	(Likely) benign	1 lab	73b802a4a4
6:111696534 REV3L T>A	6	111696534	111696534	T	A	REV3L	c.3024A>T	NM_001372078.1	NP_001359007.1:p.(Glu1008Asp)	NC_000006.11:g.111696534T>A	VUS	1 lab	73b9089a2b
9:2039808 SMARCA2 A>C	9	2039808	2039808	A	C	SMARCA2	c.698A>C	NM_003070.5	NP_003061.3:p.(Gln233Pro)	NC_000009.11:g.2039808A>C	(Likely) benign	1 lab	73baa83a14
3:38927675 SCN11A C>T	3	38927675	38927675	C	T	SCN11A	c.2890G>A	NM_001349253.2	NP_001336182.1:p.(Val964Met)	NC_000003.11:g.38927675C>T	VUS	1 lab	73bb2716c5
5:149759095 TCOF1 G>C	5	149759095	149759095	G	C	TCOF1	c.2659G>C	NM_001371623.1	NP_001358552.1:p.(Val887Leu)	NC_000005.9:g.149759095G>C	(Likely) benign	1 lab	73bc3bbd0f
20:1106143 PSMF1 G>A	20	1106143	1106143	G	A	PSMF1	c.132G>A	NM_006814.5	NP_006805.2:p.(Pro44=)	NC_000020.10:g.1106143G>A	(Likely) benign	1 lab	73bcb8821c
9:139277994 SNAPC4 CGCTGCTGCT>C	9	139277994	139278021	CGCTGCTGCT	C	SNAPC4	c.1618_1626del	NM_003086.4	NP_003077.2:p.(Ser540_Ser542del)	NC_000009.11:g.139278013_139278021del	VUS	1 lab	73c042be5c
22:50523292 MLC1 G>C	22	50523292	50523292	G	C	MLC1	c.40C>G	NM_015166.4	NP_055981.1:p.(Arg14Gly)	NC_000022.10:g.50523292G>C	VUS	1 lab	73c0fef7d8
1:160100194 ATP1A2 C>A	1	160100194	160100194	C	A	ATP1A2	c.1652-18C>A	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160100194C>A	(Likely) benign	1 lab	73c0fffe2f
1:220180649 EPRS1 T>C	1	220180649	220180649	T	C	EPRS1	c.1637A>G	NM_004446.3	NP_004437.2:p.(Tyr546Cys)	NC_000001.10:g.220180649T>C	VUS	1 lab	73c1407ed5
15:66820237 ZWILCH A>G	15	66820237	66820237	A	G	ZWILCH	c.956A>G	NM_017975.5	NP_060445.3:p.(Asp319Gly)	NC_000015.9:g.66820237A>G	(Likely) benign	1 lab	73c4d85a40
17:41242967 BRCA1 G>C	17	41242967	41242967	G	C	BRCA1	c.4179C>G	NM_007294.4	NP_009225.1:p.(Thr1393=)	NC_000017.10:g.41242967G>C	(Likely) benign	1 lab	73c5a9e110
15:33954371 RYR3 A>C	15	33954371	33954371	A	C	RYR3	c.4640A>C	NM_001036.6	NP_001027.3:p.(Glu1547Ala)	NC_000015.9:g.33954371A>C	VUS	1 lab	73c69d139c
22:18369986 MICAL3 T>C	22	18369986	18369986	T	C	MICAL3	c.2017A>G	NM_015241.3	NP_056056.2:p.(Lys673Glu)	NC_000022.10:g.18369986T>C	(Likely) benign	1 lab	73c6e9e6c5
11:124500662 TBRG1 G>C	11	124500662	124500662	G	C	TBRG1	c.858G>C	NM_032811.3	NP_116200.2:p.(Leu286=)	NC_000011.9:g.124500662G>C	VUS	1 lab	73c7b457db
8:144886022 SCRIB G>A	8	144886022	144886022	G	A	SCRIB	c.3209C>T	NM_182706.5	NP_874365.3:p.(Thr1070Met)	NC_000008.10:g.144886022G>A	VUS	1 lab	73c8208980
11:118850284 FOXR1 C>T	11	118850284	118850284	C	T	FOXR1	c.517C>T	NM_181721.3	NP_859072.1:p.(Arg173Trp)	NC_000011.9:g.118850284C>T	VUS	1 lab	73c89f5711
2:216264039 FN1 C>T	2	216264039	216264039	C	T	FN1	c.3289G>A	NM_212482.4	NP_997647.2:p.(Glu1097Lys)	NC_000002.11:g.216264039C>T	VUS	1 lab	73c8cbbdf0
17:19561179 ALDH3A2 T>G	17	19561179	19561179	T	G	ALDH3A2	c.798+4T>G	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19561179T>G	(Likely) benign	1 lab	73c9536445
X:118604105 SLC25A5 C>G	X	118604105	118604105	C	G	SLC25A5	c.593C>G	NM_001152.5	NP_001143.2:p.(Ala198Gly)	NC_000023.10:g.118604105C>G	(Likely) benign	1 lab	73ca27113d
6:56368824 DST T>C	6	56368824	56368824	T	C	DST	c.19537A>G	NM_001374736.1	NP_001361665.1:p.(Thr6513Ala)	NC_000006.11:g.56368824T>C	VUS	1 lab	73cc28af80
16:1550409 TELO2 C>T	16	1550409	1550409	C	T	TELO2	c.1064C>T	NM_016111.4	NP_057195.2:p.(Pro355Leu)	NC_000016.9:g.1550409C>T	(Likely) benign	1 lab	73cc58d0ce
5:149755273 TCOF1 TCTCA>T	5	149755273	149755280	TCTCA	T	TCOF1	c.1705-7_1705-4del	NM_001371623.1	NP_001358552.1:p.?	NC_000005.9:g.149755277_149755280del	(Likely) benign	1 lab	73cd7e583c
1:181754880 CACNA1E C>T	1	181754880	181754880	C	T	CACNA1E	c.5711C>T	NM_001205293.3	NP_001192222.1:p.(Pro1904Leu)	NC_000001.10:g.181754880C>T	(Likely) benign	1 lab	73ce516a8e
20:42265870 IFT52 G>A	20	42265870	42265870	G	A	IFT52	c.1097G>A	NM_016004.5	NP_057088.2:p.(Arg366Gln)	NC_000020.10:g.42265870G>A	VUS	1 lab	73cf0e3036
3:49721983 MST1 C>T	3	49721983	49721983	C	T	MST1	c.1876G>A	NM_020998.4	NP_066278.3:p.(Gly626Ser)	NC_000003.11:g.49721983C>T	VUS	1 lab	73cfa51c1f
15:85406885 ALPK3 G>A	15	85406885	85406885	G	A	ALPK3	c.5105+14G>A	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85406885G>A	(Likely) benign	1 lab	245b93ce60
20:35842190 RPN2 C>T	20	35842190	35842190	C	T	RPN2	c.1014C>T	NM_002951.5	NP_002942.2:p.(Asn338=)	NC_000020.10:g.35842190C>T	(Likely) benign	1 lab	73d13f5e78
10:73567462 CDH23 G>A	10	73567462	73567462	G	A	CDH23	c.8498G>A	NM_022124.6	NP_071407.4:p.(Arg2833His)	NC_000010.10:g.73567462G>A	VUS	1 lab	73d1f4ca42
X:103294668 H2BW2 G>A	X	103294668	103294668	G	A	H2BW2	c.107G>A	NM_001388464.1	NP_001375393.1:p.(Arg36Gln)	NC_000023.10:g.103294668G>A	(Likely) benign	1 lab	73d56cad87
2:148695747 ORC4 C>T	2	148695747	148695747	C	T	ORC4	c.1090G>A	NM_181741.4	NP_859525.1:p.(Val364Ile)	NC_000002.11:g.148695747C>T	(Likely) benign	1 lab	73d580fe99
8:107754535 OXR1 C>T	8	107754535	107754535	C	T	OXR1	c.2402C>T	NM_001198533.2	NP_001185462.1:p.(Pro801Leu)	NC_000008.10:g.107754535C>T	VUS	1 lab	73d62d2936
1:153791351 GATAD2B A>AT	1	153791351	153791352	A	AT	GATAD2B	c.512dup	NM_020699.4	NP_065750.1:p.(Asp171GlufsTer2)	NC_000001.10:g.153791352dup	(Likely) pathogenic	1 lab	73d63ef91b
X:140994295 MAGEC1 C>G	X	140994295	140994295	C	G	MAGEC1	c.1105C>G	NM_005462.5	NP_005453.2:p.(Pro369Ala)	NC_000023.10:g.140994295C>G	(Likely) benign	1 lab	73d6bd5602
1:149895911 SF3B4 G>C	1	149895911	149895911	G	C	SF3B4	c.914-5C>G	NM_005850.5	NP_005841.1:p.?	NC_000001.10:g.149895911G>C	(Likely) benign	1 lab	73d6c337cd
9:135974123 RALGDS C>T	9	135974123	135974123	C	T	RALGDS	c.2596G>A	NM_006266.4	NP_006257.1:p.(Val866Ile)	NC_000009.11:g.135974123C>T	VUS	1 lab	73d8ad6d09
3:47817046 SMARCC1 G>A	3	47817046	47817046	G	A	SMARCC1	c.196-2620C>T	NM_003074.4	NP_003065.3:p.?	NC_000003.11:g.47817046G>A	(Likely) benign	1 lab	73da5e6a11
9:35809195 NPR2 A>C	9	35809195	35809195	A	C	NPR2	c.3029A>C	NM_003995.4	NP_003986.2:p.(Asp1010Ala)	NC_000009.11:g.35809195A>C	VUS	1 lab	73da75a535
21:47406590 COL6A1 C>T	21	47406590	47406590	C	T	COL6A1	c.579C>T	NM_001848.3	NP_001839.2:p.(Pro193=)	NC_000021.8:g.47406590C>T	(Likely) benign	1 lab	73daae6d70
11:6637576 TPP1 C>T	11	6637576	6637576	C	T	TPP1	c.1045G>A	NM_000391.4	NP_000382.3:p.(Ala349Thr)	NC_000011.9:g.6637576C>T	VUS	1 lab	73daf1ef21
1:158054237 KIRREL1 C>T	1	158054237	158054237	C	T	KIRREL1	c.78C>T	NM_001286349.1	NP_001273278.1:p.(Asp26=)	NC_000001.10:g.158054237C>T	(Likely) benign	1 lab	245bc45026
6:49416544 MMUT C>T	6	49416544	49416544	C	T	MMUT	c.1429G>A	NM_000255.4	NP_000246.2:p.(Ala477Thr)	NC_000006.11:g.49416544C>T	VUS	1 lab	73dd13e138
22:19344569 HIRA A>G	22	19344569	19344569	A	G	HIRA	c.2240T>C	NM_003325.4	NP_003316.3:p.(Val747Ala)	NC_000022.10:g.19344569A>G	VUS	1 lab	73dd3924c3
14:103410339 CDC42BPB C>T	14	103410339	103410339	C	T	CDC42BPB	c.4297G>A	NM_006035.4	NP_006026.3:p.(Glu1433Lys)	NC_000014.8:g.103410339C>T	(Likely) benign	1 lab	73dd84f7cf
19:5131224 KDM4B C>G	19	5131224	5131224	C	G	KDM4B	c.1453C>G	NM_015015.3	NP_055830.1:p.(Leu485Val)	NC_000019.9:g.5131224C>G	(Likely) benign	1 lab	73dfa02e40
2:48026823 MSH6 G>GC	2	48026823	48026824	G	GC	MSH6	c.1701_1702insC	NM_000179.3	NP_000170.1:p.(Phe568LeufsTer9)	NC_000002.11:g.48026823_48026824insC	(Likely) pathogenic	1 lab	73e01ab8b6
11:95546722 CEP57 A>G	11	95546722	95546722	A	G	CEP57	c.473A>G	NM_014679.5	NP_055494.2:p.(Glu158Gly)	NC_000011.9:g.95546722A>G	VUS	1 lab	73e1035e19
14:100706010 YY1 C>G	14	100706010	100706010	C	G	YY1	c.429C>G	NM_003403.5	NP_003394.1:p.(Asp143Glu)	NC_000014.8:g.100706010C>G	(Likely) benign	1 lab	73e156a542
12:99060134 APAF1 A>G	12	99060134	99060134	A	G	APAF1	c.1361A>G	NM_181861.2	NP_863651.1:p.(Gln454Arg)	NC_000012.11:g.99060134A>G	VUS	1 lab	73e3f2e94a
19:11327636 DOCK6 C>T	19	11327636	11327636	C	T	DOCK6	c.3848G>A	NM_020812.4	NP_065863.2:p.(Arg1283His)	NC_000019.9:g.11327636C>T	VUS	1 lab	73e466935e
4:126373474 FAT4 G>A	4	126373474	126373474	G	A	FAT4	c.11309G>A	NM_001291303.3	NP_001278232.1:p.(Arg3770Gln)	NC_000004.11:g.126373474G>A	VUS	1 lab	73e4d6c5e3
2:120281802 SCTR T>C	2	120281802	120281802	T	C	SCTR	c.1A>G	NM_002980.3	NP_002971.2:p.(Met1?)	NC_000002.11:g.120281802T>C	VUS	1 lab	73e7275760
21:38309701 HLCS T>C	21	38309701	38309701	T	C	HLCS	c.494-9A>G	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38309701T>C	(Likely) benign	1 lab	73e7a7df90
18:44603829 KATNAL2 C>T	18	44603829	44603829	C	T	KATNAL2	c.1208C>T	NM_001387690.1	NP_001374619.1:p.(Pro403Leu)	NC_000018.9:g.44603829C>T	VUS	1 lab	73e9609ad3
6:85447040 TBX18 G>A	6	85447040	85447040	G	A	TBX18	c.1187C>T	NM_001080508.3	NP_001073977.1:p.(Ser396Phe)	NC_000006.11:g.85447040G>A	VUS	1 lab	73ea36a464
11:62400639 GANAB G>A	11	62400639	62400639	G	A	GANAB	c.784+17C>T	NM_198335.4	NP_938149.2:p.?	NC_000011.9:g.62400639G>A	(Likely) benign	1 lab	245cdf2911
X:102004875 GPRASP3 T>C	X	102004875	102004875	T	C	GPRASP3	c.952T>C	NM_001142524.2	NP_001135996.1:p.(Cys318Arg)	NC_000023.10:g.102004875T>C	(Likely) benign	1 lab	73eb50c0b3
6:100896453 SIM1 G>C	6	100896453	100896453	G	C	SIM1	c.645C>G	NM_005068.3	NP_005059.2:p.(His215Gln)	NC_000006.11:g.100896453G>C	(Likely) benign	1 lab	73ebbd3c38
4:1803090 FGFR3 G>A	4	1803090	1803090	G	A	FGFR3	c.446-4G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803090G>A	(Likely) benign	1 lab	73ee392fba
9:135819922 TSC1 A>C	9	135819922	135819922	A	C	TSC1	c.-144+8T>G	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135819922A>C	(Likely) benign	1 lab	73eeb1ae74
10:23482184 PTF1A TG>T	10	23482184	23482187	TG	T	PTF1A	c.728del	NM_178161.3	NP_835455.1:p.(Gly243AlafsTer34)	NC_000010.10:g.23482187del	VUS	1 lab	73ef4dfe89
11:103086537 DYNC2H1 A>C	11	103086537	103086537	A	C	DYNC2H1	c.8782A>C	NM_001377.3	NP_001368.2:p.(Lys2928Gln)	NC_000011.9:g.103086537A>C	VUS	1 lab	73f24bfc9e
16:323524 RGS11 A>AGT	16	323524	323526	A	AGT	RGS11	c.538_539insAC	NM_183337.3	NP_899180.1:p.(Leu180HisfsTer14)	NC_000016.9:g.323525_323526insTG	(Likely) benign	1 lab	73f2641f59
5:37007427 NIPBL G>A	5	37007427	37007427	G	A	NIPBL	c.4090G>A	NM_133433.4	NP_597677.2:p.(Gly1364Ser)	NC_000005.9:g.37007427G>A	(Likely) benign	1 lab	73f3baa54c
X:57162989 SPIN2A G>C	X	57162989	57162989	G	C	SPIN2A	c.42C>G	NM_019003.5	NP_061876.3:p.(Thr14=)	NC_000023.10:g.57162989G>C	(Likely) benign	1 lab	73f5a90006
X:54950140 TRO A>G	X	54950140	54950140	A	G	TRO	c.1175A>G	NM_001039705.3	NP_001034794.1:p.(Asp392Gly)	NC_000023.10:g.54950140A>G	VUS	1 lab	73f78099a0
20:61467666 COL9A3 C>T	20	61467666	61467666	C	T	COL9A3	c.1529C>T	NM_001853.4	NP_001844.3:p.(Thr510Met)	NC_000020.10:g.61467666C>T	VUS	1 lab	73f8679c1d
16:30976100 SETD1A C>T	16	30976100	30976100	C	T	SETD1A	c.1037C>T	NM_014712.3	NP_055527.1:p.(Ser346Leu)	NC_000016.9:g.30976100C>T	VUS	1 lab	73f9afa426
15:89849424 FANCI A>G	15	89849424	89849424	A	G	FANCI	c.3536A>G	NM_001113378.2	NP_001106849.1:p.(Tyr1179Cys)	NC_000015.9:g.89849424A>G	VUS	1 lab	73faad3e63
2:206480302 PARD3B G>GC	2	206480302	206480306	G	GC	PARD3B	c.3387dup	NM_001302769.2	NP_001289698.1:p.(Thr1130HisfsTer127)	NC_000002.11:g.206480306dup	VUS	1 lab	73fb9bb819
9:136310895 ADAMTS13 G>A	9	136310895	136310895	G	A	ADAMTS13	c.2686G>A	NM_139027.6	NP_620596.2:p.(Val896Met)	NC_000009.11:g.136310895G>A	(Likely) benign	1 lab	73fc8b3038
X:48978819 GPKOW C>T	X	48978819	48978819	C	T	GPKOW	c.385G>A	NM_015698.6	NP_056513.2:p.(Ala129Thr)	NC_000023.10:g.48978819C>T	VUS	1 lab	73ff38f4a3
9:88292420 AGTPBP1 T>C	9	88292420	88292420	T	C	AGTPBP1	c.367A>G	NM_001330701.2	NP_001317630.1:p.(Lys123Glu)	NC_000009.11:g.88292420T>C	VUS	1 lab	7401b70abb
3:142226847 ATR G>A	3	142226847	142226847	G	A	ATR	c.4957C>T	NM_001184.4	NP_001175.2:p.(Arg1653Ter)	NC_000003.11:g.142226847G>A	VUS	1 lab	74041f833f
7:44266108 CAMK2B T>C	7	44266108	44266108	T	C	CAMK2B	c.1597+7A>G	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44266108T>C	(Likely) benign	1 lab	7405074265
16:16259698 ABCC6 G>A	16	16259698	16259698	G	A	ABCC6	c.3088C>T	NM_001171.6	NP_001162.5:p.(Arg1030Ter)	NC_000016.9:g.16259698G>A	(Likely) pathogenic	1 lab	740767eb93
8:72977732 TRPA1 A>C	8	72977732	72977732	A	C	TRPA1	c.506T>G	NM_007332.3	NP_015628.2:p.(Val169Gly)	NC_000008.10:g.72977732A>C	VUS	1 lab	740b67921e
7:122821122 SLC13A1 C>T	7	122821122	122821122	C	T	SLC13A1	c.133G>A	NM_022444.4	NP_071889.2:p.(Ala45Thr)	NC_000007.13:g.122821122C>T	VUS	1 lab	740e095eee
10:64960237 JMJD1C G>A	10	64960237	64960237	G	A	JMJD1C	c.5275C>T	NM_032776.3	NP_116165.1:p.(Arg1759Trp)	NC_000010.10:g.64960237G>A	VUS	1 lab	740e920ec0
11:118455209 ARCN1 G>A	11	118455209	118455209	G	A	ARCN1	c.668G>A	NM_001655.5	NP_001646.2:p.(Ser223Asn)	NC_000011.9:g.118455209G>A	VUS	1 lab	7411e00cac
14:78028768 SPTLC2 C>G	14	78028768	78028768	C	G	SPTLC2	c.821G>C	NM_004863.4	NP_004854.1:p.(Gly274Ala)	NC_000014.8:g.78028768C>G	VUS	1 lab	7411fe529b
17:29592303 NF1 A>G	17	29592303	29592303	A	G	NF1	c.4781A>G	NM_001042492.3	NP_001035957.1:p.(Tyr1594Cys)	NC_000017.10:g.29592303A>G	VUS	1 lab	7413435f60
13:24470960 C1QTNF9B C>G	13	24470960	24470960	C	G	C1QTNF9B	c.166G>C	NM_001007537.3	NP_001007538.1:p.(Gly56Arg)	NC_000013.10:g.24470960C>G	VUS	1 lab	7416ef1d04
1:225334799 DNAH14 T>A	1	225334799	225334799	T	A	DNAH14	c.4795-7T>A	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225334799T>A	(Likely) benign	1 lab	74186263ff
1:155450068 ASH1L GTTC>G	1	155450068	155450073	GTTC	G	ASH1L	c.2590_2592del	NM_018489.3	NP_060959.2:p.(Glu864del)	NC_000001.10:g.155450071_155450073del	VUS	1 lab	7418a47139
16:70546278 COG4 G>C	16	70546278	70546278	G	C	COG4	c.602C>G	NM_015386.3	NP_056201.2:p.(Ala201Gly)	NC_000016.9:g.70546278G>C	(Likely) benign	1 lab	7419e51ab7
20:44639905 MMP9 C>T	20	44639905	44639905	C	T	MMP9	c.773C>T	NM_004994.3	NP_004985.2:p.(Thr258Ile)	NC_000020.10:g.44639905C>T	VUS	1 lab	741a949314
7:100284299 GIGYF1 C>T	7	100284299	100284299	C	T	GIGYF1	c.667G>A	NM_001375765.1	NP_001362694.1:p.(Gly223Ser)	NC_000007.13:g.100284299C>T	VUS	1 lab	741aa12bc4
2:73799977 ALMS1 G>A	2	73799977	73799977	G	A	ALMS1	c.10973G>A	NM_001378454.1	NP_001365383.1:p.(Arg3658Gln)	NC_000002.11:g.73799977G>A	VUS	1 lab	741da2f738
3:46945000 PTH1R G>A	3	46945000	46945000	G	A	PTH1R	c.1636G>A	NM_000316.3	NP_000307.1:p.(Glu546Lys)	NC_000003.11:g.46945000G>A	(Likely) benign	1 lab	741e67ef3d
20:10625577 JAG1 C>T	20	10625577	10625577	C	T	JAG1	c.2278G>A	NM_000214.3	NP_000205.1:p.(Val760Met)	NC_000020.10:g.10625577C>T	VUS	1 lab	741ed36d83
3:58419520 PDHB C>A	3	58419520	58419520	C	A	PDHB	c.17G>T	NM_000925.4	NP_000916.2:p.(Gly6Val)	NC_000003.11:g.58419520C>A	VUS	1 lab	741eec7787
12:20522514 PDE3A A>C	12	20522514	20522514	A	C	PDE3A	c.296A>C	NM_000921.5	NP_000912.3:p.(Glu99Ala)	NC_000012.11:g.20522514A>C	(Likely) benign	1 lab	741fae18f1
1:205138321 DSTYK G>C	1	205138321	205138321	G	C	DSTYK	c.1294C>G	NM_015375.3	NP_056190.1:p.(Leu432Val)	NC_000001.10:g.205138321G>C	(Likely) benign	1 lab	742233d317
16:76483762 CNTNAP4 G>A	16	76483762	76483762	G	A	CNTNAP4	c.1071+7G>A	NM_033401.5	NP_207837.2:p.?	NC_000016.9:g.76483762G>A	(Likely) benign	1 lab	7423be7dbf
9:18817094 ADAMTSL1 TTCTTA>T	9	18817094	18817103	TTCTTA	T	ADAMTSL1	c.3806-8_3806-4del	NM_001040272.6	NP_001035362.3:p.?	NC_000009.11:g.18817099_18817103del	VUS	1 lab	7425c33baa
2:238245002 COL6A3 G>T	2	238245002	238245002	G	T	COL6A3	c.8741C>A	NM_004369.4	NP_004360.2:p.(Pro2914His)	NC_000002.11:g.238245002G>T	VUS	1 lab	7426b16781
2:148917735 MBD5 G>A	2	148917735	148917735	G	A	MBD5	c.-924-18534G>A	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.148917735G>A	(Likely) benign	1 lab	742884b275
8:97316342 PTDSS1 G>A	8	97316342	97316342	G	A	PTDSS1	c.827G>A	NM_014754.3	NP_055569.1:p.(Arg276Gln)	NC_000008.10:g.97316342G>A	VUS	1 lab	7428f8c1cf
16:3025461 PKMYT1 C>T	16	3025461	3025461	C	T	PKMYT1	c.731G>A	NM_004203.5	NP_004194.3:p.(Arg244Gln)	NC_000016.9:g.3025461C>T	VUS	1 lab	742bf18967
3:129180085 IFT122 T>A	3	129180085	129180085	T	A	IFT122	c.287T>A	NM_052989.3	NP_443715.1:p.(Ile96Lys)	NC_000003.11:g.129180085T>A	VUS	1 lab	742bf3d0f0
16:9858507 GRIN2A G>A	16	9858507	9858507	G	A	GRIN2A	c.2894C>T	NM_001134407.3	NP_001127879.1:p.(Thr965Ile)	NC_000016.9:g.9858507G>A	(Likely) benign	1 lab	742c00ef0e
16:56377805 GNAO1 T>G	16	56377805	56377805	T	G	GNAO1	c.723+7033T>G	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56377805T>G	VUS	1 lab	742c622b95
17:2568692 PAFAH1B1 G>A	17	2568692	2568692	G	A	PAFAH1B1	c.59G>A	NM_000430.4	NP_000421.1:p.(Arg20His)	NC_000017.10:g.2568692G>A	VUS	1 lab	742ec4f362
3:52812386 ITIH1 A>G	3	52812386	52812386	A	G	ITIH1	c.169A>G	NM_002215.4	NP_002206.2:p.(Lys57Glu)	NC_000003.11:g.52812386A>G	VUS	1 lab	742f3a6428
15:73064162 ADPGK A>C	15	73064162	73064162	A	C	ADPGK	c.484T>G	NM_001365225.1	NP_001352154.1:p.(Leu162Val)	NC_000015.9:g.73064162A>C	VUS	1 lab	74315945f2
19:18896974 COMP G>C	19	18896974	18896974	G	C	COMP	c.1308-18C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896974G>C	(Likely) benign	1 lab	7431819895
2:219925153 IHH A>G	2	219925153	219925153	A	G	IHH	c.37T>C	NM_002181.4	NP_002172.2:p.(Cys13Arg)	NC_000002.11:g.219925153A>G	(Likely) benign	1 lab	74320282d4
7:139655298 TBXAS1 G>A	7	139655298	139655298	G	A	TBXAS1	c.580G>A	NM_001061.7	NP_001052.3:p.(Ala194Thr)	NC_000007.13:g.139655298G>A	VUS	1 lab	7433e178be
4:1902833 NSD2 T>C	4	1902833	1902833	T	C	NSD2	c.452T>C	NM_001042424.3	NP_001035889.1:p.(Val151Ala)	NC_000004.11:g.1902833T>C	(Likely) benign	1 lab	7433ee5a91
X:51934963 MAGED4 A>G	X	51934963	51934963	A	G	MAGED4	c.2216+6A>G	NM_001272063.2	NP_001258992.1:p.?	NC_000023.10:g.51934963A>G	VUS	1 lab	743485614a
9:131004464 DNM1 G>T	9	131004464	131004464	G	T	DNM1	c.1558-47G>T	NM_004408.4	NP_004399.2:p.?	NC_000009.11:g.131004464G>T	(Likely) benign	1 lab	7435970698
11:62472911 BSCL2 C>A	11	62472911	62472911	C	A	BSCL2	c.266G>T	NM_001122955.4	NP_001116427.1:p.(Arg89Leu)	NC_000011.9:g.62472911C>A	VUS	1 lab	7435aa6898
11:6245192 FHIP1B C>G	11	6245192	6245192	C	G	FHIP1B	c.425G>C	NM_001098794.2	NP_001092264.1:p.(Arg142Pro)	NC_000011.9:g.6245192C>G	(Likely) benign	1 lab	7435ccdf0f
5:149515165 PDGFRB C>T	5	149515165	149515165	C	T	PDGFRB	c.317G>A	NM_002609.4	NP_002600.1:p.(Arg106His)	NC_000005.9:g.149515165C>T	(Likely) benign	1 lab	74366a23c6
17:36099621 HNF1B A>G	17	36099621	36099621	A	G	HNF1B	c.354T>C	NM_000458.4	NP_000449.1:p.(Pro118=)	NC_000017.10:g.36099621A>G	(Likely) benign	1 lab	743a9867a0
16:70697927 MTSS2 C>G	16	70697927	70697927	C	G	MTSS2	c.1897G>C	NM_138383.3	NP_612392.1:p.(Ala633Pro)	NC_000016.9:g.70697927C>G	(Likely) benign	1 lab	743bc023c1
16:815156 MSLN G>C	16	815156	815156	G	C	MSLN	c.557G>C	NM_005823.6	NP_005814.2:p.(Gly186Ala)	NC_000016.9:g.815156G>C	VUS	1 lab	743cb1cf54
5:55264192 IL6ST T>C	5	55264192	55264192	T	C	IL6ST	c.403A>G	NM_002184.4	NP_002175.2:p.(Ile135Val)	NC_000005.9:g.55264192T>C	(Likely) benign	1 lab	743d2ea734
7:124386967 GPR37 T>C	7	124386967	124386967	T	C	GPR37	c.1454A>G	NM_005302.5	NP_005293.1:p.(Gln485Arg)	NC_000007.13:g.124386967T>C	(Likely) benign	1 lab	743d73a917
9:101470962 GABBR2 G>A	9	101470962	101470962	G	A	GABBR2	c.58C>T	NM_005458.8	NP_005449.5:p.(Pro20Ser)	NC_000009.11:g.101470962G>A	(Likely) benign	1 lab	7441b9bf4f
8:100287441 VPS13B C>G	8	100287441	100287441	C	G	VPS13B	c.2783C>G	NM_152564.5	NP_689777.3:p.(Thr928Arg)	NC_000008.10:g.100287441C>G	VUS	1 lab	74421c0b94
15:65944053 SLC24A1 T>C	15	65944053	65944053	T	C	SLC24A1	c.2839T>C	NM_004727.3	NP_004718.1:p.(Trp947Arg)	NC_000015.9:g.65944053T>C	VUS	1 lab	7442c863c2
22:18562762 PEX26 C>G	22	18562762	18562762	C	G	PEX26	c.353C>G	NM_001127649.3	NP_001121121.1:p.(Pro118Arg)	NC_000022.10:g.18562762C>G	(Likely) pathogenic	1 lab	7443c7989e
17:80054308 FASN A>C	17	80054308	80054308	A	C	FASN	c.14T>G	NM_004104.5	NP_004095.4:p.(Val5Gly)	NC_000017.10:g.80054308A>C	VUS	1 lab	7444165513
2:145255574 ZEB2 A>ATG	2	145255574	145255576	A	ATG	ZEB2	c.73+19270_73+19271insCA	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145255575_145255576insGT	(Likely) benign	1 lab	74442bb4ad
15:63942131 HERC1 G>A	15	63942131	63942131	G	A	HERC1	c.10547-7C>T	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63942131G>A	(Likely) benign	1 lab	74449c02f1
3:58139177 FLNB T>C	3	58139177	58139177	T	C	FLNB	c.6443T>C	NM_001457.4	NP_001448.2:p.(Met2148Thr)	NC_000003.11:g.58139177T>C	(Likely) benign	1 lab	7444b08ebf
8:101729991 PABPC1 T>C	8	101729991	101729991	T	C	PABPC1	c.503+10A>G	NM_002568.4	NP_002559.2:p.?	NC_000008.10:g.101729991T>C	(Likely) benign	1 lab	7445668543
17:57076830 TRIM37 A>C	17	57076830	57076830	A	C	TRIM37	c.2813-10T>G	NM_015294.6	NP_056109.1:p.?	NC_000017.10:g.57076830A>C	(Likely) benign	1 lab	7446a52f4f
5:35010174 AGXT2 A>C	5	35010174	35010174	A	C	AGXT2	c.1269T>G	NM_031900.4	NP_114106.1:p.(Asp423Glu)	NC_000005.9:g.35010174A>C	(Likely) benign	1 lab	7446a65354
X:47104176 USP11 G>A	X	47104176	47104176	G	A	USP11	c.1939G>A	NM_001371072.1	NP_001358001.1:p.(Val647Ile)	NC_000023.10:g.47104176G>A	VUS	1 lab	7447a153f2
1:2237633 SKI C>G	1	2237633	2237633	C	G	SKI	c.1942C>G	NM_003036.4	NP_003027.1:p.(Arg648Gly)	NC_000001.10:g.2237633C>G	(Likely) benign	1 lab	7447fe0127
1:169509914 F5 A>C	1	169509914	169509914	A	C	F5	c.4414T>G	NM_000130.5	NP_000121.2:p.(Ser1472Ala)	NC_000001.10:g.169509914A>C	(Likely) benign	1 lab	7448b256d2
11:17408579 KCNJ11 T>C	11	17408579	17408579	T	C	KCNJ11	c.1060A>G	NM_000525.4	NP_000516.3:p.(Ser354Gly)	NC_000011.9:g.17408579T>C	(Likely) benign	1 lab	7449c9be4b
12:90010769 ATP2B1 G>C	12	90010769	90010769	G	C	ATP2B1	c.1877C>G	NM_001366521.1	NP_001353450.1:p.(Pro626Arg)	NC_000012.11:g.90010769G>C	VUS	1 lab	7449fd8c16
14:36008779 RALGAPA1 C>T	14	36008779	36008779	C	T	RALGAPA1	c.*141G>A	NM_001346249.2	NP_001333178.1:p.?	NC_000014.8:g.36008779C>T	(Likely) benign	1 lab	744b8e700d
1:11307977 MTOR G>A	1	11307977	11307977	G	A	MTOR	c.1015C>T	NM_004958.4	NP_004949.1:p.(His339Tyr)	NC_000001.10:g.11307977G>A	VUS	1 lab	74edcb794e
15:65943064 SLC24A1 CGAAGAGGAG>C	15	65943064	65943084	CGAAGAGGAG	C	SLC24A1	c.2589_2597del	NM_004727.3	NP_004718.1:p.(Glu866_Glu868del)	NC_000015.9:g.65943076_65943084del	VUS	1 lab	7453fa3554
2:127819683 BIN1 G>A	2	127819683	127819683	G	A	BIN1	c.857+8C>T	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127819683G>A	(Likely) benign	1 lab	745488d18e
16:58571878 CNOT1 A>C	16	58571878	58571878	A	C	CNOT1	c.5331T>G	NM_016284.5	NP_057368.3:p.(Ala1777=)	NC_000016.9:g.58571878A>C	(Likely) benign	1 lab	7455914022
2:29022146 PPP1CB G>T	2	29022146	29022146	G	T	PPP1CB	c.961G>T	NM_002709.3	NP_002700.1:p.(Ala321Ser)	NC_000002.11:g.29022146G>T	VUS	1 lab	74570813bd
18:10704423 PIEZO2 C>T	18	10704423	10704423	C	T	PIEZO2	c.6227G>A	NM_001378183.1	NP_001365112.1:p.(Arg2076Gln)	NC_000018.9:g.10704423C>T	VUS	1 lab	74581ce5ed
1:27023366 ARID1A C>T	1	27023366	27023366	C	T	ARID1A	c.472C>T	NM_006015.6	NP_006006.3:p.(Pro158Ser)	NC_000001.10:g.27023366C>T	VUS	1 lab	745a5eae60
22:21350363 LZTR1 C>G	22	21350363	21350363	C	G	LZTR1	c.2181C>G	NM_006767.4	NP_006758.2:p.(Ile727Met)	NC_000022.10:g.21350363C>G	VUS	1 lab	745ac2c24a
2:86067461 ST3GAL5 C>T	2	86067461	86067461	C	T	ST3GAL5	c.1063G>A	NM_003896.4	NP_003887.3:p.(Glu355Lys)	NC_000002.11:g.86067461C>T	(Likely) pathogenic	1 lab	745c9f17be
2:121742072 GLI2 G>C	2	121742072	121742072	G	C	GLI2	c.1658G>C	NM_001374353.1	NP_001361282.1:p.(Gly553Ala)	NC_000002.11:g.121742072G>C	VUS	1 lab	745cd1817f
9:139735053 RABL6 G>A	9	139735053	139735053	G	A	RABL6	c.*79G>A	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139735053G>A	VUS	1 lab	745d2f8cd9
X:132730541 GPC3 A>G	X	132730541	132730541	A	G	GPC3	c.1500T>C	NM_004484.4	NP_004475.1:p.(Asp500=)	NC_000023.10:g.132730541A>G	(Likely) benign	1 lab	745d69f7a7
11:20122654 NAV2 G>A	11	20122654	20122654	G	A	NAV2	c.6353G>A	NM_145117.5	NP_660093.2:p.(Arg2118Gln)	NC_000011.9:g.20122654G>A	(Likely) benign	1 lab	746c8406c8
12:7046712 ATN1 G>C	12	7046712	7046712	G	C	ATN1	c.2282G>C	NM_001940.4	NP_001931.2:p.(Ser761Thr)	NC_000012.11:g.7046712G>C	VUS	1 lab	745eb9fa1f
15:89392823 ACAN C>T	15	89392823	89392823	C	T	ACAN	c.1887C>T	NM_001369268.1	NP_001356197.1:p.(Asp629=)	NC_000015.9:g.89392823C>T	(Likely) benign	1 lab	745f5dbe21
5:130771843 RAPGEF6 C>G	5	130771843	130771843	C	G	RAPGEF6	c.3746-2492G>C	NM_016340.6	NP_057424.3:p.?	NC_000005.9:g.130771843C>G	VUS	1 lab	746026efdc
3:47449941 PTPN23 C>T	3	47449941	47449941	C	T	PTPN23	c.1291C>T	NM_015466.4	NP_056281.1:p.(Arg431Trp)	NC_000003.11:g.47449941C>T	VUS	1 lab	746303ad0c
16:2143637 PKD1 G>A	16	2143637	2143637	G	A	PKD1	c.10924C>T	NM_001009944.3	NP_001009944.3:p.(Arg3642Cys)	NC_000016.9:g.2143637G>A	VUS	1 lab	74656a2131
2:135887597 RAB3GAP1 C>T	2	135887597	135887597	C	T	RAB3GAP1	c.1006C>T	NM_012233.3	NP_036365.1:p.(Arg336Cys)	NC_000002.11:g.135887597C>T	(Likely) benign	1 lab	7465c90a72
15:23890408 MAGEL2 C>A	15	23890408	23890408	C	A	MAGEL2	c.2482G>T	NM_019066.5	NP_061939.3:p.(Val828Leu)	NC_000015.9:g.23890408C>A	VUS	1 lab	7466f6d0f2
8:144995239 PLEC A>C	8	144995239	144995239	A	C	PLEC	c.8750T>G	NM_201384.3	NP_958786.1:p.(Phe2917Cys)	NC_000008.10:g.144995239A>C	VUS	1 lab	746709ed62
1:100327183 AGL T>C	1	100327183	100327183	T	C	AGL	c.207T>C	NM_000642.3	NP_000633.2:p.(Asn69=)	NC_000001.10:g.100327183T>C	(Likely) benign	1 lab	746a54d0f4
7:45104197 CCM2 G>A	7	45104197	45104197	G	A	CCM2	c.424G>A	NM_031443.4	NP_113631.1:p.(Val142Ile)	NC_000007.13:g.45104197G>A	VUS	1 lab	746b7ca458
15:57884296 MYZAP C>T	15	57884296	57884296	C	T	MYZAP	c.64C>T	NM_001018100.5	NP_001018110.1:p.(Pro22Ser)	NC_000015.9:g.57884296C>T	(Likely) benign	1 lab	245e213c65
6:21595150 SOX4 C>T	6	21595150	21595150	C	T	SOX4	c.385C>T	NM_003107.3	NP_003098.1:p.(Arg129Trp)	NC_000006.11:g.21595150C>T	VUS	1 lab	746db6d3fc
1:24077943 ELOA C>T	1	24077943	24077943	C	T	ELOA	c.848C>T	NM_003198.3	NP_003189.3:p.(Pro283Leu)	NC_000001.10:g.24077943C>T	VUS	1 lab	746e355173
7:94057161 COL1A2 C>G	7	94057161	94057161	C	G	COL1A2	c.3490C>G	NM_000089.4	NP_000080.2:p.(Arg1164Gly)	NC_000007.13:g.94057161C>G	VUS	1 lab	746e76d875
1:145473384 ANKRD34A G>A	1	145473384	145473384	G	A	ANKRD34A	c.56G>A	NM_001039888.4	NP_001034977.1:p.(Arg19His)	NC_000001.10:g.145473384G>A	VUS	1 lab	746e888a9a
19:39997969 DLL3 G>A	19	39997969	39997969	G	A	DLL3	c.1384G>A	NM_203486.3	NP_982353.1:p.(Ala462Thr)	NC_000019.9:g.39997969G>A	(Likely) benign	1 lab	746f420510
20:44469670 SNX21 C>G	20	44469670	44469670	C	G	SNX21	c.840C>G	NM_033421.4	NP_219489.1:p.(Asp280Glu)	NC_000020.10:g.44469670C>G	VUS	1 lab	746f67c0cf
15:89398824 ACAN C>T	15	89398824	89398824	C	T	ACAN	c.3008C>T	NM_001369268.1	NP_001356197.1:p.(Thr1003Ile)	NC_000015.9:g.89398824C>T	VUS	1 lab	746f960788
22:21347168 LZTR1 G>A	22	21347168	21347168	G	A	LZTR1	c.1235G>A	NM_006767.4	NP_006758.2:p.(Arg412His)	NC_000022.10:g.21347168G>A	VUS	1 lab	746faa611c
19:4543922 SEMA6B G>T	19	4543922	4543922	G	T	SEMA6B	c.2358C>A	NM_032108.4	NP_115484.2:p.(Asp786Glu)	NC_000019.9:g.4543922G>T	(Likely) benign	1 lab	74717c372d
8:100589809 VPS13B A>C	8	100589809	100589809	A	C	VPS13B	c.5168A>C	NM_152564.5	NP_689777.3:p.(Gln1723Pro)	NC_000008.10:g.100589809A>C	VUS	1 lab	74718a37fe
19:39007996 RYR1 C>G	19	39007996	39007996	C	G	RYR1	c.9686-3C>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39007996C>G	VUS	1 lab	74729222ef
22:41940440 POLR3H A>ACCGCGCACCG	22	41940440	41940442	A	ACCGCGCACCG	POLR3H	c.-336_-335insCGGTGCGCGG	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41940441_41940442insCGCGCACCGC	VUS	1 lab	7477fde341
6:33156158 COL11A2 A>G	6	33156158	33156158	A	G	COL11A2	c.587T>C	NM_080680.3	NP_542411.2:p.(Leu196Pro)	NC_000006.11:g.33156158A>G	VUS	1 lab	230f18a5ef
14:103805527 EIF5 G>GT	14	103805527	103805529	G	GT	EIF5	c.765dup	NM_001969.5	NP_001960.2:p.(Ile256TyrfsTer2)	NC_000014.8:g.103805529dup	VUS	1 lab	7479c92efd
19:35617849 LGI4 T>C	19	35617849	35617849	T	C	LGI4	c.701A>G	NM_139284.3	NP_644813.1:p.(His234Arg)	NC_000019.9:g.35617849T>C	VUS	1 lab	747a496267
3:50225480 SEMA3F C>T	3	50225480	50225480	C	T	SEMA3F	c.2290C>T	NM_004186.5	NP_004177.3:p.(Pro764Ser)	NC_000003.11:g.50225480C>T	(Likely) benign	1 lab	747d6be82d
4:123277881 BLTP1 T>A	4	123277881	123277881	T	A	BLTP1	c.14870T>A	NM_001384125.1	NP_001371054.1:p.(Val4957Glu)	NC_000004.11:g.123277881T>A	VUS	1 lab	747e69e10f
19:8656729 ADAMTS10 C>G	19	8656729	8656729	C	G	ADAMTS10	c.1752G>C	NM_030957.4	NP_112219.3:p.(Lys584Asn)	NC_000019.9:g.8656729C>G	VUS	1 lab	747feae10a
2:102505386 MAP4K4 C>T	2	102505386	102505386	C	T	MAP4K4	c.4060C>T	NM_001395002.1	NP_001381931.1:p.(Arg1354Cys)	NC_000002.11:g.102505386C>T	VUS	1 lab	747fff2f23
15:89390471 ACAN C>T	15	89390471	89390471	C	T	ACAN	c.1430-3C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89390471C>T	(Likely) benign	1 lab	7482053a96
15:89417768 ACAN G>A	15	89417768	89417768	G	A	ACAN	c.*56G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89417768G>A	(Likely) benign	1 lab	7482cc37a8
20:52612478 BCAS1 C>G	20	52612478	52612478	C	G	BCAS1	c.835G>C	NM_001366298.2	NP_001353227.1:p.(Ala279Pro)	NC_000020.10:g.52612478C>G	(Likely) benign	1 lab	74848c7a90
22:40696445 TNRC6B A>AT	22	40696445	40696452	A	AT	TNRC6B	c.3709-7dup	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40696452dup	(Likely) benign	1 lab	7484c38aa2
X:71521766 CITED1 G>T	X	71521766	71521766	G	T	CITED1	c.389C>A	NM_001144887.2	NP_001138359.1:p.(Ala130Glu)	NC_000023.10:g.71521766G>T	(Likely) benign	1 lab	7485325ac9
7:139636007 TBXAS1 C>G	7	139636007	139636007	C	G	TBXAS1	c.351C>G	NM_001061.7	NP_001052.3:p.(Phe117Leu)	NC_000007.13:g.139636007C>G	(Likely) benign	1 lab	7488d124b4
X:71349737 NHSL2 G>A	X	71349737	71349737	G	A	NHSL2	c.281-2192G>A	NM_001013627.3	NP_001013649.2:p.?	NC_000023.10:g.71349737G>A	VUS	1 lab	748a8a329b
7:55238093 EGFR C>T	7	55238093	55238093	C	T	EGFR	c.1974C>T	NM_201284.2	NP_958441.1:p.(Ser658=)	NC_000007.13:g.55238093C>T	(Likely) benign	1 lab	2315841781
1:27878534 AHDC1 G>GCC	1	27878534	27878536	G	GCC	AHDC1	c.91_92dup	NM_001371928.1	NP_001358857.1:p.(Pro32AlafsTer86)	NC_000001.10:g.27878535_27878536dup	VUS	1 lab	748b49eb54
22:24906813 UPB1 T>C	22	24906813	24906813	T	C	UPB1	c.459+2T>C	NM_016327.3	NP_057411.1:p.?	NC_000022.10:g.24906813T>C	VUS	1 lab	74d0bf739d
5:56111642 MAP3K1 C>T	5	56111642	56111642	C	T	MAP3K1	c.242C>T	NM_005921.2	NP_005912.1:p.(Ala81Val)	NC_000005.9:g.56111642C>T	VUS	1 lab	748e03cf0c
11:108381516 EXPH5 T>A	11	108381516	108381516	T	A	EXPH5	c.4718A>T	NM_015065.3	NP_055880.2:p.(Asn1573Ile)	NC_000011.9:g.108381516T>A	(Likely) benign	1 lab	748fddad00
X:153174922 ARHGAP4 G>A	X	153174922	153174922	G	A	ARHGAP4	c.2482C>T	NM_001666.5	NP_001657.3:p.(Leu828Phe)	NC_000023.10:g.153174922G>A	VUS	1 lab	74903cf7ea
13:25444875 RNF17 C>T	13	25444875	25444875	C	T	RNF17	c.4445C>T	NM_031277.3	NP_112567.2:p.(Thr1482Ile)	NC_000013.10:g.25444875C>T	VUS	1 lab	7491025c32
19:46519364 CCDC61 TCGTCCCGGGAGCGCTCCG>T	19	46519364	46519386	TCGTCCCGGGAGCGCTCCG	T	CCDC61	c.903_920del	NM_001267723.2	NP_001254652.1:p.(Glu303_Arg308del)	NC_000019.9:g.46519369_46519386del	(Likely) benign	1 lab	749108d5e1
20:44596962 ZNF335 T>C	20	44596962	44596962	T	C	ZNF335	c.482A>G	NM_022095.4	NP_071378.1:p.(Glu161Gly)	NC_000020.10:g.44596962T>C	VUS	1 lab	74918820c0
3:168845807 MECOM C>A	3	168845807	168845807	C	A	MECOM	c.655G>T	NM_004991.4	NP_004982.2:p.(Glu219Ter)	NC_000003.11:g.168845807C>A	(Likely) pathogenic	1 lab	749231d58e
2:47287944 TTC7A C>T	2	47287944	47287944	C	T	TTC7A	c.2189C>T	NM_020458.4	NP_065191.2:p.(Ala730Val)	NC_000002.11:g.47287944C>T	VUS	1 lab	74923d60da
X:131219962 FRMD7 A>T	X	131219962	131219962	A	T	FRMD7	c.483T>A	NM_194277.3	NP_919253.1:p.(Phe161Leu)	NC_000023.10:g.131219962A>T	(Likely) benign	1 lab	7492559bfa
18:44774230 SKOR2 G>T	18	44774230	44774230	G	T	SKOR2	c.1325C>A	NM_001278063.4	NP_001264992.1:p.(Ala442Glu)	NC_000018.9:g.44774230G>T	(Likely) benign	1 lab	74930927ff
9:140711875 EHMT1 ACT>A	9	140711875	140711881	ACT	A	EHMT1	c.3375-11_3375-10del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140711880_140711881del	(Likely) benign	1 lab	2318834837
19:57065936 ZFP28 C>T	19	57065936	57065936	C	T	ZFP28	c.1782C>T	NM_020828.2	NP_065879.1:p.(Cys594=)	NC_000019.9:g.57065936C>T	(Likely) benign	1 lab	749469b2c5
19:50305818 AP2A1 C>T	19	50305818	50305818	C	T	AP2A1	c.2115-388C>T	NM_130787.3	NP_570603.2:p.?	NC_000019.9:g.50305818C>T	VUS	1 lab	7495b25e14
2:27676352 IFT172 G>A	2	27676352	27676352	G	A	IFT172	c.3850C>T	NM_015662.3	NP_056477.1:p.(Arg1284Ter)	NC_000002.11:g.27676352G>A	VUS	1 lab	74967ac598
12:113837452 SDS T>G	12	113837452	113837452	T	G	SDS	c.62A>C	NM_006843.3	NP_006834.2:p.(Lys21Thr)	NC_000012.11:g.113837452T>G	(Likely) benign	1 lab	74969e94d4
16:88945811 CBFA2T3 G>A	16	88945811	88945811	G	A	CBFA2T3	c.1529C>T	NM_005187.6	NP_005178.4:p.(Ser510Leu)	NC_000016.9:g.88945811G>A	(Likely) benign	1 lab	7497731de3
10:23481503 PTF1A C>T	10	23481503	23481503	C	T	PTF1A	c.44C>T	NM_178161.3	NP_835455.1:p.(Ala15Val)	NC_000010.10:g.23481503C>T	(Likely) benign	1 lab	7498a0a944
19:38973768 RYR1 A>G	19	38973768	38973768	A	G	RYR1	c.4707+15A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38973768A>G	(Likely) benign	1 lab	749b19e314
15:99460062 IGF1R A>G	15	99460062	99460062	A	G	IGF1R	c.2158A>G	NM_000875.5	NP_000866.1:p.(Lys720Glu)	NC_000015.9:g.99460062A>G	(Likely) pathogenic	1 lab	749c654a8c
11:44129460 EXT2 G>GC	11	44129460	44129462	G	GC	EXT2	c.200dup	NM_207122.2	NP_997005.1:p.(Val68GlyfsTer3)	NC_000011.9:g.44129462dup	(Likely) pathogenic	1 lab	749c8d471f
3:12447606 PPARG T>TG	3	12447606	12447611	T	TG	PPARG	c.729+31dup	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12447611dup	(Likely) benign	1 lab	749d79b9f3
11:31824303 PAX6 T>C	11	31824303	31824303	T	C	PAX6	c.90A>G	NM_001368894.2	NP_001355823.1:p.(Val30=)	NC_000011.9:g.31824303T>C	(Likely) benign	1 lab	749f459930
12:112707605 HECTD4 T>G	12	112707605	112707605	T	G	HECTD4	c.2224A>C	NM_001388303.1	NP_001375232.1:p.(Ile742Leu)	NC_000012.11:g.112707605T>G	VUS	1 lab	749fb20051
X:154197766 F8 AG>A	X	154197766	154197768	AG	A	F8	c.848del	NM_000132.4	NP_000123.1:p.(Pro283LeufsTer15)	NC_000023.10:g.154197768del	VUS	1 lab	74a0e5d71a
19:10463599 TYK2 C>T	19	10463599	10463599	C	T	TYK2	c.3200+3G>A	NM_003331.5	NP_003322.3:p.?	NC_000019.9:g.10463599C>T	(Likely) benign	1 lab	74a103739a
19:51217072 SHANK1 G>T	19	51217072	51217072	G	T	SHANK1	c.775C>A	NM_016148.5	NP_057232.2:p.(His259Asn)	NC_000019.9:g.51217072G>T	(Likely) benign	1 lab	74a135acf6
4:151207172 LRBA G>A	4	151207172	151207172	G	A	LRBA	c.8032C>T	NM_001364905.1	NP_001351834.1:p.(Pro2678Ser)	NC_000004.11:g.151207172G>A	(Likely) benign	1 lab	74a3d50059
X:111020164 TRPC5 G>A	X	111020164	111020164	G	A	TRPC5	c.2299C>T	NM_012471.3	NP_036603.1:p.(Pro767Ser)	NC_000023.10:g.111020164G>A	VUS	1 lab	74a423a195
10:127456095 MMP21 A>G	10	127456095	127456095	A	G	MMP21	c.1410+6T>C	NM_147191.1	NP_671724.1:p.?	NC_000010.10:g.127456095A>G	VUS	1 lab	74a4a6e34e
1:10195047 UBE4B C>T	1	10195047	10195047	C	T	UBE4B	c.2027C>T	NM_001105562.3	NP_001099032.1:p.(Thr676Ile)	NC_000001.10:g.10195047C>T	VUS	1 lab	74a7521b23
5:180432679 BTNL3 C>G	5	180432679	180432679	C	G	BTNL3	c.1208C>G	NM_197975.3	NP_932079.1:p.(Pro403Arg)	NC_000005.9:g.180432679C>G	VUS	1 lab	74a76a2253
18:14124343 ZNF519 T>C	18	14124343	14124343	T	C	ZNF519	c.130+6A>G	NM_145287.4	NP_660330.2:p.?	NC_000018.9:g.14124343T>C	VUS	1 lab	74a7f8c5a7
16:53922838 FTO C>T	16	53922838	53922838	C	T	FTO	c.1214C>T	NM_001080432.3	NP_001073901.1:p.(Ala405Val)	NC_000016.9:g.53922838C>T	(Likely) benign	1 lab	74a8a754be
17:7106320 DLG4 G>A	17	7106320	7106320	G	A	DLG4	c.689C>T	NM_001321075.3	NP_001308004.1:p.(Ala230Val)	NC_000017.10:g.7106320G>A	(Likely) benign	1 lab	74aa1c651d
13:28498696 PDX1 C>A	13	28498696	28498696	C	A	PDX1	c.710C>A	NM_000209.4	NP_000200.1:p.(Ala237Glu)	NC_000013.10:g.28498696C>A	(Likely) benign	1 lab	74aad41573
6:88223990 RARS2 T>C	6	88223990	88223990	T	C	RARS2	c.*141A>G	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88223990T>C	VUS	1 lab	74aaf9ab88
8:57078824 PLAG1 C>T	8	57078824	57078824	C	T	PLAG1	c.1481G>A	NM_002655.3	NP_002646.2:p.(Arg494His)	NC_000008.10:g.57078824C>T	VUS	1 lab	74afbfe337
X:153580771 FLNA C>T	X	153580771	153580771	C	T	FLNA	c.6547G>A	NM_001110556.2	NP_001104026.1:p.(Gly2183Ser)	NC_000023.10:g.153580771C>T	VUS	1 lab	74b00713a2
12:55863798 OR6C70 G>A	12	55863798	55863798	G	A	OR6C70	c.125C>T	NM_001005499.1	NP_001005499.1:p.(Thr42Ile)	NC_000012.11:g.55863798G>A	VUS	1 lab	74b1e7849b
7:98485370 TRRAP A>AAG	7	98485370	98485372	A	AAG	TRRAP	c.151-2587_151-2586insGA	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98485371_98485372insGA	(Likely) benign	1 lab	74b239a99c
15:45393032 DUOX2 GGGAGCTGAGAAAAAGAAA>G	15	45393032	45393050	GGGAGCTGAGAAAAAGAAA	G	DUOX2	c.2922-14_2925del	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45393033_45393050del	(Likely) pathogenic	1 lab	74b36b6c19
14:94112965 UNC79 G>A	14	94112965	94112965	G	A	UNC79	c.6389G>A	NM_001395159.1	NP_001382088.1:p.(Ser2130Asn)	NC_000014.8:g.94112965G>A	VUS	1 lab	74b432dc27
1:151773455 LINGO4 G>A	1	151773455	151773455	G	A	LINGO4	c.1726C>T	NM_001004432.4	NP_001004432.1:p.(Arg576Trp)	NC_000001.10:g.151773455G>A	VUS	1 lab	74b4adf0f2
15:28386667 HERC2 G>A	15	28386667	28386667	G	A	HERC2	c.11926C>T	NM_004667.6	NP_004658.3:p.(Pro3976Ser)	NC_000015.9:g.28386667G>A	(Likely) pathogenic	1 lab	74b59566e2
18:77513679 CTDP1 GGACGCCGCCAGC>G	18	77513679	77513693	GGACGCCGCCAGC	G	CTDP1	c.2778_2789del	NM_004715.5	NP_004706.3:p.(Asp926_Ser929del)	NC_000018.9:g.77513682_77513693del	VUS	1 lab	74b64fa0bf
5:172753003 STC2 C>G	5	172753003	172753003	C	G	STC2	c.162G>C	NM_003714.3	NP_003705.1:p.(Gln54His)	NC_000005.9:g.172753003C>G	VUS	1 lab	74bd371d89
10:81070811 ZMIZ1 C>T	10	81070811	81070811	C	T	ZMIZ1	c.2966C>T	NM_020338.4	NP_065071.1:p.(Pro989Leu)	NC_000010.10:g.81070811C>T	VUS	1 lab	74bd925773
17:7350406 CHRNB1 T>C	17	7350406	7350406	T	C	CHRNB1	c.398T>C	NM_000747.3	NP_000738.2:p.(Val133Ala)	NC_000017.10:g.7350406T>C	VUS	1 lab	74c11559d7
9:100388124 TSTD2 C>CT	9	100388124	100388125	C	CT	TSTD2	c.320dup	NM_139246.5	NP_640339.4:p.(Thr108AspfsTer23)	NC_000009.11:g.100388125dup	VUS	1 lab	74c12acddb
2:27505680 TRIM54 C>T	2	27505680	27505680	C	T	TRIM54	c.81C>T	NM_032546.4	NP_115935.3:p.(Pro27=)	NC_000002.11:g.27505680C>T	(Likely) benign	1 lab	2469e5a471
18:8824926 MTCL1 C>T	18	8824926	8824926	C	T	MTCL1	c.4498C>T	NM_001395333.1	NP_001382262.1:p.(Arg1500Trp)	NC_000018.9:g.8824926C>T	(Likely) benign	1 lab	74c32f568c
15:100591868 ADAMTS17 C>T	15	100591868	100591868	C	T	ADAMTS17	c.2364G>A	NM_139057.4	NP_620688.2:p.(Ala788=)	NC_000015.9:g.100591868C>T	VUS	1 lab	74c357bcb2
X:2876343 ARSL T>C	X	2876343	2876343	T	C	ARSL	c.157A>G	NM_000047.3	NP_000038.2:p.(Ile53Val)	NC_000023.10:g.2876343T>C	(Likely) benign	1 lab	74c50f5210
1:235916448 LYST GAGA>G	1	235916448	235916456	GAGA	G	LYST	c.7353_7355del	NM_000081.4	NP_000072.2:p.(Leu2452del)	NC_000001.10:g.235916454_235916456del	VUS	1 lab	74c5183c8d
4:54327186 LNX1 A>T	4	54327186	54327186	A	T	LNX1	c.2075T>A	NM_001126328.3	NP_001119800.1:p.(Val692Asp)	NC_000004.11:g.54327186A>T	VUS	1 lab	74c6be1803
19:50921074 POLD1 A>ACCCTGC	19	50921074	50921089	A	ACCCTGC	POLD1	c.3219-15_3219-10dup	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50921084_50921089dup	VUS	1 lab	74cbb8c170
17:7350399 CHRNB1 G>A	17	7350399	7350399	G	A	CHRNB1	c.391G>A	NM_000747.3	NP_000738.2:p.(Val131Ile)	NC_000017.10:g.7350399G>A	VUS	1 lab	74dee7ec0e
1:22211313 HSPG2 C>T	1	22211313	22211313	C	T	HSPG2	c.1454G>A	NM_005529.7	NP_005520.4:p.(Arg485Gln)	NC_000001.10:g.22211313C>T	(Likely) benign	1 lab	74ccc257f7
X:100746164 ARMCX4 A>T	X	100746164	100746164	A	T	ARMCX4	c.2588A>T	NM_001256155.3	NP_001243084.2:p.(Asp863Val)	NC_000023.10:g.100746164A>T	VUS	1 lab	74cebcd840
2:152527747 NEB T>C	2	152527747	152527747	T	C	NEB	c.4300-4A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152527747T>C	(Likely) benign	1 lab	74cec4d361
7:73450879 ELN C>A	7	73450879	73450879	C	A	ELN	c.134-6C>A	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73450879C>A	(Likely) benign	1 lab	246db91384
8:145006672 PLEC C>T	8	145006672	145006672	C	T	PLEC	c.1873G>A	NM_201384.3	NP_958786.1:p.(Ala625Thr)	NC_000008.10:g.145006672C>T	VUS	1 lab	74cf436a18
6:35207597 SCUBE3 G>A	6	35207597	35207597	G	A	SCUBE3	c.898G>A	NM_152753.4	NP_689966.2:p.(Glu300Lys)	NC_000006.11:g.35207597G>A	VUS	1 lab	74d1b6df5b
3:48895215 SLC25A20 G>A	3	48895215	48895215	G	A	SLC25A20	c.844-10C>T	NM_000387.6	NP_000378.1:p.?	NC_000003.11:g.48895215G>A	(Likely) benign	1 lab	74d36c9f3f
3:15776909 ANKRD28 G>A	3	15776909	15776909	G	A	ANKRD28	c.640+8C>T	NM_001349278.2	NP_001336207.1:p.?	NC_000003.11:g.15776909G>A	(Likely) benign	1 lab	74d42281f5
2:166909368 SCN1A T>C	2	166909368	166909368	T	C	SCN1A	c.688A>G	NM_001165963.4	NP_001159435.1:p.(Ile230Val)	NC_000002.11:g.166909368T>C	(Likely) benign	1 lab	74d4c8b8b9
4:119220083 PRSS12 T>C	4	119220083	119220083	T	C	PRSS12	c.1642A>G	NM_003619.4	NP_003610.2:p.(Arg548Gly)	NC_000004.11:g.119220083T>C	VUS	1 lab	74e5ed5520
6:170592562 DLL1 ATGT>A	6	170592562	170592565	ATGT	A	DLL1	c.1802_1804del	NM_005618.4	NP_005609.3:p.(Asp601_Ile602delinsVal)	NC_000006.11:g.170592563_170592565del	(Likely) benign	1 lab	74d68e10ff
7:98543545 TRRAP T>C	7	98543545	98543545	T	C	TRRAP	c.4528-8T>C	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98543545T>C	VUS	1 lab	74d8573452
X:152830521 ATP2B3 A>G	X	152830521	152830521	A	G	ATP2B3	c.3302A>G	NM_001001344.3	NP_001001344.1:p.(Gln1101Arg)	NC_000023.10:g.152830521A>G	(Likely) benign	1 lab	74d98bb508
16:14723960 PARN G>A	16	14723960	14723960	G	A	PARN	c.19+4C>T	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14723960G>A	VUS	1 lab	74dc4fb496
12:404858 KDM5A C>G	12	404858	404858	C	G	KDM5A	c.4336G>C	NM_001042603.3	NP_001036068.1:p.(Glu1446Gln)	NC_000012.11:g.404858C>G	VUS	1 lab	74dcf77c44
12:122013752 KDM2B T>G	12	122013752	122013752	T	G	KDM2B	c.284A>C	NM_032590.5	NP_115979.3:p.(Glu95Ala)	NC_000012.11:g.122013752T>G	VUS	1 lab	231d6af07b
6:33411053 SYNGAP1 G>C	6	33411053	33411053	G	C	SYNGAP1	c.2724G>C	NM_006772.3	NP_006763.2:p.(Gln908His)	NC_000006.11:g.33411053G>C	VUS	1 lab	74e102a840
10:95454610 FRA10AC1 ATACT>A	10	95454610	95454617	ATACT	A	FRA10AC1	c.296+4_296+7del	NM_145246.5	NP_660289.2:p.?	NC_000010.10:g.95454614_95454617del	VUS	1 lab	74e18e7a7a
19:55331243 KIR3DL1 G>T	19	55331243	55331243	G	T	KIR3DL1	c.431G>T	NM_013289.4	NP_037421.2:p.(Cys144Phe)	NC_000019.9:g.55331243G>T	(Likely) benign	1 lab	74e2fdbf17
6:12124563 HIVEP1 T>C	6	12124563	12124563	T	C	HIVEP1	c.4535T>C	NM_002114.4	NP_002105.3:p.(Ile1512Thr)	NC_000006.11:g.12124563T>C	VUS	1 lab	74e359890b
15:42677731 CAPN3 G>C	15	42677731	42677731	G	C	CAPN3	c.380-634G>C	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42677731G>C	(Likely) benign	1 lab	24700a7b7f
2:220422740 OBSL1 G>A	2	220422740	220422740	G	A	OBSL1	c.3595C>T	NM_015311.3	NP_056126.1:p.(Arg1199Trp)	NC_000002.11:g.220422740G>A	(Likely) benign	1 lab	74e678562b
19:42854373 MEGF8 T>C	19	42854373	42854373	T	C	MEGF8	c.2573T>C	NM_001271938.2	NP_001258867.1:p.(Leu858Ser)	NC_000019.9:g.42854373T>C	VUS	1 lab	74e9a78eda
11:108199882 ATM G>A	11	108199882	108199882	G	A	ATM	c.7224G>A	NM_000051.4	NP_000042.3:p.(Ser2408=)	NC_000011.9:g.108199882G>A	(Likely) benign	1 lab	74ea03204a
2:61431488 USP34 C>T	2	61431488	61431488	C	T	USP34	c.9287G>A	NM_014709.4	NP_055524.3:p.(Arg3096Gln)	NC_000002.11:g.61431488C>T	(Likely) benign	1 lab	74ea896732
22:19467696 CDC45 G>T	22	19467696	19467696	G	T	CDC45	c.67G>T	NM_003504.5	NP_003495.1:p.(Val23Leu)	NC_000022.10:g.19467696G>T	VUS	1 lab	74eb63c302
2:219483470 PLCD4 G>A	2	219483470	219483470	G	A	PLCD4	c.350G>A	NM_032726.4	NP_116115.1:p.(Arg117Gln)	NC_000002.11:g.219483470G>A	(Likely) benign	1 lab	74ecdbc4f7
13:100635034 ZIC2 A>C	13	100635034	100635034	A	C	ZIC2	c.716A>C	NM_007129.5	NP_009060.2:p.(His239Pro)	NC_000013.10:g.100635034A>C	VUS	1 lab	74ee889e8a
12:64854006 TBK1 A>G	12	64854006	64854006	A	G	TBK1	c.125A>G	NM_013254.4	NP_037386.1:p.(Asn42Ser)	NC_000012.11:g.64854006A>G	(Likely) benign	1 lab	74efc960a3
6:87968962 ZNF292 C>A	6	87968962	87968962	C	A	ZNF292	c.5615C>A	NM_015021.3	NP_055836.1:p.(Thr1872Lys)	NC_000006.11:g.87968962C>A	(Likely) benign	1 lab	74f1384830
14:68059396 PIGH G>T	14	68059396	68059396	G	T	PIGH	c.430C>A	NM_004569.5	NP_004560.1:p.(Pro144Thr)	NC_000014.8:g.68059396G>T	VUS	1 lab	74f2038435
11:71153303 DHCR7 GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT>G	11	71153303	71153338	GGCTACCTGCAGGAGTCACGGCCCCCTCCTGGAT	G	DHCR7	c.385_412+5del	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71153306_71153338del	VUS	1 lab	74f27695da
14:68331678 RAD51B CTTTTTTTTTTTTTT>C	14	68331678	68331717	CTTTTTTTTTTTTTT	C	RAD51B	c.316-16_316-3del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68331704_68331717del	VUS	1 lab	74f31b8513
19:48179160 BICRA A>G	19	48179160	48179160	A	G	BICRA	c.137A>G	NM_001394372.1	NP_001381301.1:p.(Tyr46Cys)	NC_000019.9:g.48179160A>G	VUS	1 lab	74f5d36028
16:72057193 DHODH C>T	16	72057193	72057193	C	T	DHODH	c.949C>T	NM_001361.5	NP_001352.2:p.(Arg317Trp)	NC_000016.9:g.72057193C>T	VUS	1 lab	74f7991415
9:2070479 SMARCA2 A>G	9	2070479	2070479	A	G	SMARCA2	c.1746+8A>G	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2070479A>G	(Likely) benign	1 lab	74f9075e01
6:32011670 TNXB C>T	6	32011670	32011670	C	T	TNXB	c.11387-1G>A	NM_001365276.2	NP_001352205.1:p.?	NC_000006.11:g.32011670C>T	VUS	1 lab	74fb17c075
10:103345743 POLL G>A	10	103345743	103345743	G	A	POLL	c.286C>T	NM_001174084.2	NP_001167555.1:p.(Arg96Cys)	NC_000010.10:g.103345743G>A	VUS	1 lab	74fb4ecaa9
2:152363426 NEB G>A	2	152363426	152363426	G	A	NEB	c.23553C>T	NM_001164508.2	NP_001157980.2:p.(Ser7851=)	NC_000002.11:g.152363426G>A	VUS	1 lab	74fb833ddf
1:182798751 NPL CAA>C	1	182798751	182798754	CAA	C	NPL	c.*710_*711del	NM_030769.3	NP_110396.1:p.?	NC_000001.10:g.182798753_182798754del	VUS	1 lab	74fbdaa87d
1:2339896 PEX10 T>G	1	2339896	2339896	T	G	PEX10	c.595A>C	NM_002617.4	NP_002608.1:p.(Thr199Pro)	NC_000001.10:g.2339896T>G	VUS	1 lab	74fd310201
11:118518751 PHLDB1 G>A	11	118518751	118518751	G	A	PHLDB1	c.3613G>A	NM_001144758.3	NP_001138230.1:p.(Val1205Ile)	NC_000011.9:g.118518751G>A	VUS	1 lab	74fd670b44
7:141255355 AGK A>G	7	141255355	141255355	A	G	AGK	c.89A>G	NM_018238.4	NP_060708.1:p.(Tyr30Cys)	NC_000007.13:g.141255355A>G	(Likely) benign	1 lab	74fff2cee3
19:46811959 HIF3A G>C	19	46811959	46811959	G	C	HIF3A	c.488G>C	NM_152795.4	NP_690008.2:p.(Cys163Ser)	NC_000019.9:g.46811959G>C	(Likely) benign	1 lab	750234a33b
4:997212 IDUA T>G	4	997212	997212	T	G	IDUA	c.1604T>G	NM_000203.5	NP_000194.2:p.(Leu535Arg)	NC_000004.11:g.997212T>G	VUS	1 lab	750236d1ee
22:18300673 MICAL3 A>T	22	18300673	18300673	A	T	MICAL3	c.4754T>A	NM_015241.3	NP_056056.2:p.(Val1585Glu)	NC_000022.10:g.18300673A>T	VUS	1 lab	75027c81ad
3:4732829 ITPR1 T>A	3	4732829	4732829	T	A	ITPR1	c.3830T>A	NM_001378452.1	NP_001365381.1:p.(Ile1277Asn)	NC_000003.11:g.4732829T>A	VUS	1 lab	7504d3a82f
2:219920576 IHH C>A	2	219920576	219920576	C	A	IHH	c.589G>T	NM_002181.4	NP_002172.2:p.(Ala197Ser)	NC_000002.11:g.219920576C>A	VUS	1 lab	7505bab015
4:39247063 WDR19 C>T	4	39247063	39247063	C	T	WDR19	c.2720C>T	NM_025132.4	NP_079408.3:p.(Ala907Val)	NC_000004.11:g.39247063C>T	VUS	1 lab	7506ce8d9f
18:2688469 SMCHD1 G>A	18	2688469	2688469	G	A	SMCHD1	c.716G>A	NM_015295.3	NP_056110.2:p.(Gly239Asp)	NC_000018.9:g.2688469G>A	VUS	1 lab	7507c94a38
10:15702933 ITGA8 A>G	10	15702933	15702933	A	G	ITGA8	c.848-12T>C	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15702933A>G	(Likely) benign	1 lab	2471852bd1
19:56001026 SSC5D G>A	19	56001026	56001026	G	A	SSC5D	c.358G>A	NM_001144950.2	NP_001138422.1:p.(Ala120Thr)	NC_000019.9:g.56001026G>A	VUS	1 lab	750a36a228
16:89758285 CDK10 C>T	16	89758285	89758285	C	T	CDK10	c.407C>T	NM_052988.5	NP_443714.3:p.(Ser136Leu)	NC_000016.9:g.89758285C>T	VUS	1 lab	750b6b6a11
5:74640082 HMGCR T>A	5	74640082	74640082	T	A	HMGCR	c.290T>A	NM_000859.3	NP_000850.1:p.(Leu97His)	NC_000005.9:g.74640082T>A	VUS	1 lab	750d08d8ce
16:11051758 CLEC16A C>G	16	11051758	11051758	C	G	CLEC16A	c.200C>G	NM_015226.3	NP_056041.1:p.(Ser67Cys)	NC_000016.9:g.11051758C>G	VUS	1 lab	750d0a613f
19:36341346 NPHS1 A>G	19	36341346	36341346	A	G	NPHS1	c.528T>C	NM_004646.3	NP_004637.1:p.(Ser176=)	NC_000019.9:g.36341346A>G	(Likely) benign	1 lab	24722f918a
6:157510853 ARID1B C>G	6	157510853	157510853	C	G	ARID1B	c.3997C>G	NM_001374828.1	NP_001361757.1:p.(Leu1333Val)	NC_000006.11:g.157510853C>G	(Likely) benign	1 lab	750d8940ae
1:39903564 MACF1 A>G	1	39903564	39903564	A	G	MACF1	c.18104A>G	NM_001394062.1	NP_001380991.1:p.(Asn6035Ser)	NC_000001.10:g.39903564A>G	(Likely) benign	1 lab	750e675027
X:3240313 MXRA5 G>A	X	3240313	3240313	G	A	MXRA5	c.3413C>T	NM_015419.4	NP_056234.2:p.(Pro1138Leu)	NC_000023.10:g.3240313G>A	(Likely) benign	1 lab	750f7b9f25
8:101196925 SPAG1 CAGG>C	8	101196925	101196930	CAGG	C	SPAG1	c.668_670del	NM_003114.5	NP_003105.2:p.(Gly223del)	NC_000008.10:g.101196928_101196930del	VUS	1 lab	750fbc6a13
13:111125441 COL4A2 C>T	13	111125441	111125441	C	T	COL4A2	c.2369C>T	NM_001846.4	NP_001837.2:p.(Pro790Leu)	NC_000013.10:g.111125441C>T	VUS	1 lab	75116f5bda
22:40804928 SGSM3 C>T	22	40804928	40804928	C	T	SGSM3	c.1903-9C>T	NM_015705.6	NP_056520.2:p.?	NC_000022.10:g.40804928C>T	(Likely) benign	1 lab	7512d9c97a
X:68060253 EFNB1 G>A	X	68060253	68060253	G	A	EFNB1	c.797G>A	NM_004429.5	NP_004420.1:p.(Arg266His)	NC_000023.10:g.68060253G>A	VUS	1 lab	7512f9f2e8
X:131762658 HS6ST2 C>T	X	131762658	131762658	C	T	HS6ST2	c.1531G>A	NM_001394073.1	NP_001381002.1:p.(Glu511Lys)	NC_000023.10:g.131762658C>T	(Likely) benign	1 lab	7513674543
3:46728494 ALS2CL G>T	3	46728494	46728494	G	T	ALS2CL	c.513C>A	NM_147129.5	NP_667340.2:p.(Ser171Arg)	NC_000003.11:g.46728494G>T	VUS	1 lab	75147e68ab
5:45645453 HCN1 G>A	5	45645453	45645453	G	A	HCN1	c.683C>T	NM_021072.4	NP_066550.2:p.(Ser228Leu)	NC_000005.9:g.45645453G>A	VUS	1 lab	2329459102
4:126237631 FAT4 C>G	4	126237631	126237631	C	G	FAT4	c.65C>G	NM_001291303.3	NP_001278232.1:p.(Ser22Cys)	NC_000004.11:g.126237631C>G	VUS	1 lab	7515641530
12:102173930 GNPTAB C>T	12	102173930	102173930	C	T	GNPTAB	c.771G>A	NM_024312.5	NP_077288.2:p.(Leu257=)	NC_000012.11:g.102173930C>T	(Likely) pathogenic	1 lab	7515c515dd
19:11137421 SMARCA4 C>T	19	11137421	11137421	C	T	SMARCA4	c.3215+399C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11137421C>T	(Likely) benign	1 lab	7515e41eaa
9:36246497 GNE T>C	9	36246497	36246497	T	C	GNE	c.165-18A>G	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36246497T>C	(Likely) benign	1 lab	7516c132fd
2:27528599 TRIM54 T>TA	2	27528599	27528600	T	TA	TRIM54	c.758dup	NM_187841.3	NP_912730.2:p.(Tyr253Ter)	NC_000002.11:g.27528600dup	(Likely) benign	1 lab	751836550b
17:8137857 CTC1 G>A	17	8137857	8137857	G	A	CTC1	c.1734C>T	NM_025099.6	NP_079375.3:p.(Ala578=)	NC_000017.10:g.8137857G>A	(Likely) benign	1 lab	75184bbf2d
16:30012811 INO80E C>A	16	30012811	30012811	C	A	INO80E	c.473C>A	NM_173618.3	NP_775889.1:p.(Pro158His)	NC_000016.9:g.30012811C>A	(Likely) benign	1 lab	751861eb23
2:179553487 TTN G>A	2	179553487	179553487	G	A	TTN	c.32114C>T	NM_001267550.2	NP_001254479.2:p.(Thr10705Ile)	NC_000002.11:g.179553487G>A	(Likely) benign	1 lab	75188fc512
1:235827271 LYST G>T	1	235827271	235827271	G	T	LYST	c.11267+13C>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235827271G>T	(Likely) benign	1 lab	24740a5df2
12:2717796 CACNA1C A>G	12	2717796	2717796	A	G	CACNA1C	c.3476A>G	NM_000719.7	NP_000710.5:p.(Asn1159Ser)	NC_000012.11:g.2717796A>G	VUS	1 lab	751aa37eb0
7:100349566 ZAN A>C	7	100349566	100349566	A	C	ZAN	c.1838A>C	NM_003386.3	NP_003377.2:p.(Asn613Thr)	NC_000007.13:g.100349566A>C	(Likely) benign	1 lab	751b545619
1:7723796 CAMTA1 G>A	1	7723796	7723796	G	A	CAMTA1	c.1189G>A	NM_015215.4	NP_056030.1:p.(Ala397Thr)	NC_000001.10:g.7723796G>A	(Likely) benign	1 lab	751c7818ee
12:121437102 HNF1A G>A	12	121437102	121437102	G	A	HNF1A	c.1533G>A	NM_000545.8	NP_000536.6:p.(Gln511=)	NC_000012.11:g.121437102G>A	(Likely) benign	1 lab	751e8c6857
2:179585843 TTN A>G	2	179585843	179585843	A	G	TTN	c.22903T>C	NM_001267550.2	NP_001254479.2:p.(Ser7635Pro)	NC_000002.11:g.179585843A>G	VUS	1 lab	232bda2376
2:240954175 NDUFA10 C>T	2	240954175	240954175	C	T	NDUFA10	c.650G>A	NM_004544.4	NP_004535.1:p.(Arg217Gln)	NC_000002.11:g.240954175C>T	VUS	1 lab	751fd7c47e
8:118830665 EXT1 G>A	8	118830665	118830665	G	A	EXT1	c.1632+9C>T	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.118830665G>A	(Likely) benign	1 lab	751ff6d91c
3:36887760 TRANK1 CA>C	3	36887760	36887762	CA	C	TRANK1	c.5169del	NM_001329998.2	NP_001316927.1:p.(Val1724Ter)	NC_000003.11:g.36887762del	VUS	1 lab	752416bf7c
1:244006844 AKT3 AC>A	1	244006844	244006847	AC	A	AKT3	c.-112-261del	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.244006847del	VUS	1 lab	7525690f25
12:49437679 KMT2D A>C	12	49437679	49437679	A	C	KMT2D	c.5291T>G	NM_003482.4	NP_003473.3:p.(Leu1764Arg)	NC_000012.11:g.49437679A>C	VUS	1 lab	75273e43e5
3:30729950 TGFBR2 G>A	3	30729950	30729950	G	A	TGFBR2	c.1471G>A	NM_003242.6	NP_003233.4:p.(Val491Met)	NC_000003.11:g.30729950G>A	VUS	1 lab	7527958ce6
2:152419253 NEB C>T	2	152419253	152419253	C	T	NEB	c.18763G>A	NM_001164508.2	NP_001157980.2:p.(Val6255Met)	NC_000002.11:g.152419253C>T	VUS	1 lab	7527ca95c4
14:81606177 TSHR T>C	14	81606177	81606177	T	C	TSHR	c.847T>C	NM_000369.5	NP_000360.2:p.(Cys283Arg)	NC_000014.8:g.81606177T>C	VUS	1 lab	7527f47c53
14:51057697 ATL1 G>C	14	51057697	51057697	G	C	ATL1	c.321G>C	NM_015915.5	NP_056999.2:p.(Leu107Phe)	NC_000014.8:g.51057697G>C	VUS	1 lab	752c9eb73b
11:1651393 KRTAP5-5 CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG>C	11	1651393	1651519	CCTGTGGCTCCTGTGGGGGGTCCAAGGGGGG	C	KRTAP5-5	c.420_449del	NM_001001480.3	NP_001001480.2:p.(Cys142_Ser151del)	NC_000011.9:g.1651490_1651519del	(Likely) benign	1 lab	752d51c7d8
2:71148291 VAX2 G>A	2	71148291	71148291	G	A	VAX2	c.311G>A	NM_012476.3	NP_036608.1:p.(Arg104Gln)	NC_000002.11:g.71148291G>A	VUS	1 lab	754f2ad4cd
2:183902798 NCKAP1 C>G	2	183902798	183902798	C	G	NCKAP1	c.30G>C	NM_013436.5	NP_038464.1:p.(Gln10His)	NC_000002.11:g.183902798C>G	(Likely) benign	1 lab	752def7a41
2:71755439 DYSF G>A	2	71755439	71755439	G	A	DYSF	c.1285G>A	NM_001130981.2	NP_001124453.1:p.(Val429Met)	NC_000002.11:g.71755439G>A	(Likely) benign	1 lab	2477274525
22:41926774 POLR3H T>C	22	41926774	41926774	T	C	POLR3H	c.478A>G	NM_001018050.4	NP_001018060.1:p.(Thr160Ala)	NC_000022.10:g.41926774T>C	VUS	1 lab	752f7b8a94
1:247587590 NLRP3 A>C	1	247587590	247587590	A	C	NLRP3	c.839A>C	NM_001243133.2	NP_001230062.1:p.(Asp280Ala)	NC_000001.10:g.247587590A>C	(Likely) benign	1 lab	752fd1ad5a
21:34922034 SON C>T	21	34922034	34922034	C	T	SON	c.497C>T	NM_138927.2	NP_620305.2:p.(Ala166Val)	NC_000021.8:g.34922034C>T	(Likely) benign	1 lab	2478302366
20:43047160 HNF4A G>A	20	43047160	43047160	G	A	HNF4A	c.736+8G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43047160G>A	(Likely) benign	1 lab	7530655786
9:139749021 MAMDC4 G>T	9	139749021	139749021	G	T	MAMDC4	c.827G>T	NM_206920.3	NP_996803.2:p.(Gly276Val)	NC_000009.11:g.139749021G>T	(Likely) benign	1 lab	7531378798
1:205813266 PM20D1 C>G	1	205813266	205813266	C	G	PM20D1	c.656G>C	NM_152491.5	NP_689704.4:p.(Gly219Ala)	NC_000001.10:g.205813266C>G	VUS	1 lab	7531a1d355
19:5694888 LONP1 C>T	19	5694888	5694888	C	T	LONP1	c.2038G>A	NM_004793.4	NP_004784.2:p.(Ala680Thr)	NC_000019.9:g.5694888C>T	(Likely) benign	1 lab	7531c3c9ea
X:119005448 RNF113A G>C	X	119005448	119005448	G	C	RNF113A	c.129C>G	NM_006978.3	NP_008909.1:p.(Ser43Arg)	NC_000023.10:g.119005448G>C	(Likely) benign	1 lab	753283548f
X:11783872 MSL3 A>G	X	11783872	11783872	A	G	MSL3	c.1171+24A>G	NM_078629.4	NP_523353.2:p.?	NC_000023.10:g.11783872A>G	(Likely) benign	1 lab	75328bc527
12:52867520 KRT6C A>G	12	52867520	52867520	A	G	KRT6C	c.2T>C	NM_173086.5	NP_775109.2:p.(Met1?)	NC_000012.11:g.52867520A>G	VUS	1 lab	7532cecbfc
15:75309068 SCAMP5 C>T	15	75309068	75309068	C	T	SCAMP5	c.271C>T	NM_138967.4	NP_620417.1:p.(Arg91Trp)	NC_000015.9:g.75309068C>T	VUS	1 lab	769d711738
22:38161807 TRIOBP C>T	22	38161807	38161807	C	T	TRIOBP	c.6455C>T	NM_001039141.3	NP_001034230.1:p.(Thr2152Met)	NC_000022.10:g.38161807C>T	VUS	1 lab	7533619714
X:76845319 ATRX G>A	X	76845319	76845319	G	A	ATRX	c.6202C>T	NM_000489.6	NP_000480.3:p.(Pro2068Ser)	NC_000023.10:g.76845319G>A	VUS	1 lab	7534f4fc9f
5:42700030 GHR G>C	5	42700030	42700030	G	C	GHR	c.544G>C	NM_000163.5	NP_000154.1:p.(Asp182His)	NC_000005.9:g.42700030G>C	VUS	1 lab	753534a9e8
19:11328006 DOCK6 CCCTTCG>C	19	11328006	11328017	CCCTTCG	C	DOCK6	c.3606_3611del	NM_020812.4	NP_065863.2:p.(Glu1203_Gly1204del)	NC_000019.9:g.11328012_11328017del	VUS	1 lab	7536de16da
9:124089748 GSN G>A	9	124089748	124089748	G	A	GSN	c.1903G>A	NM_000177.5	NP_000168.1:p.(Gly635Ser)	NC_000009.11:g.124089748G>A	VUS	1 lab	232be70867
15:91542249 VPS33B T>C	15	91542249	91542249	T	C	VPS33B	c.1810A>G	NM_018668.5	NP_061138.3:p.(Asn604Asp)	NC_000015.9:g.91542249T>C	VUS	1 lab	75398ecb81
14:65239666 SPTB G>A	14	65239666	65239666	G	A	SPTB	c.5185C>T	NM_001355436.2	NP_001342365.1:p.(Arg1729Trp)	NC_000014.8:g.65239666G>A	VUS	1 lab	7539b453b1
12:85466748 LRRIQ1 C>T	12	85466748	85466748	C	T	LRRIQ1	c.2759C>T	NM_001079910.2	NP_001073379.1:p.(Thr920Ile)	NC_000012.11:g.85466748C>T	(Likely) benign	1 lab	753b58c0b6
11:65998380 PACS1 A>G	11	65998380	65998380	A	G	PACS1	c.1595A>G	NM_018026.4	NP_060496.2:p.(Glu532Gly)	NC_000011.9:g.65998380A>G	VUS	1 lab	753c338772
16:71787790 AP1G1 C>A	16	71787790	71787790	C	A	AP1G1	c.1230G>T	NM_001128.6	NP_001119.3:p.(Lys410Asn)	NC_000016.9:g.71787790C>A	VUS	1 lab	753d789e7f
15:89398096 ACAN T>A	15	89398096	89398096	T	A	ACAN	c.2280T>A	NM_001369268.1	NP_001356197.1:p.(Thr760=)	NC_000015.9:g.89398096T>A	(Likely) benign	1 lab	753fb214f0
13:37576687 EXOSC8 C>T	13	37576687	37576687	C	T	EXOSC8	c.117C>T	NM_181503.3	NP_852480.1:p.(Ile39=)	NC_000013.10:g.37576687C>T	(Likely) benign	1 lab	753febe3cb
17:73501978 CASKIN2 A>G	17	73501978	73501978	A	G	CASKIN2	c.759T>C	NM_020753.5	NP_065804.2:p.(Tyr253=)	NC_000017.10:g.73501978A>G	(Likely) benign	1 lab	75404e1741
1:3753067 CEP104 C>T	1	3753067	3753067	C	T	CEP104	c.1309G>A	NM_014704.4	NP_055519.1:p.(Glu437Lys)	NC_000001.10:g.3753067C>T	(Likely) benign	1 lab	75408b2ad8
22:21088425 PI4KA A>T	22	21088425	21088425	A	T	PI4KA	c.3958T>A	NM_058004.4	NP_477352.3:p.(Phe1320Ile)	NC_000022.10:g.21088425A>T	VUS	1 lab	7540a62551
3:9121766 SRGAP3 C>G	3	9121766	9121766	C	G	SRGAP3	c.429G>C	NM_014850.4	NP_055665.1:p.(Lys143Asn)	NC_000003.11:g.9121766C>G	VUS	1 lab	75432f9b0c
2:170082964 LRP2 C>A	2	170082964	170082964	C	A	LRP2	c.5362G>T	NM_004525.3	NP_004516.2:p.(Ala1788Ser)	NC_000002.11:g.170082964C>A	VUS	1 lab	7544c6a81c
2:179395492 TTN C>T	2	179395492	179395492	C	T	TTN	c.105850G>A	NM_001267550.2	NP_001254479.2:p.(Ala35284Thr)	NC_000002.11:g.179395492C>T	(Likely) benign	1 lab	754508ea86
11:118770745 BCL9L A>G	11	118770745	118770745	A	G	BCL9L	c.3287T>C	NM_001378213.1	NP_001365142.1:p.(Met1096Thr)	NC_000011.9:g.118770745A>G	VUS	1 lab	7545dabc32
15:43821371 MAP1A A>AC	15	43821371	43821376	A	AC	MAP1A	c.7705dup	NM_002373.6	NP_002364.5:p.(Arg2569ProfsTer8)	NC_000015.9:g.43821376dup	(Likely) benign	1 lab	7547723d31
1:225394698 DNAH14 A>G	1	225394698	225394698	A	G	DNAH14	c.6215A>G	NM_001367479.1	NP_001354408.1:p.(Tyr2072Cys)	NC_000001.10:g.225394698A>G	VUS	1 lab	7547f2599b
16:29814858 KIF22 G>A	16	29814858	29814858	G	A	KIF22	c.1538G>A	NM_007317.3	NP_015556.1:p.(Arg513Gln)	NC_000016.9:g.29814858G>A	(Likely) benign	1 lab	75482f48e0
12:97211689 CFAP54 G>A	12	97211689	97211689	G	A	CFAP54	c.9094G>A	NM_001306084.2	NP_001293013.1:p.(Glu3032Lys)	NC_000012.11:g.97211689G>A	(Likely) benign	1 lab	7548579640
8:144892762 SCRIB G>C	8	144892762	144892762	G	C	SCRIB	c.1417C>G	NM_182706.5	NP_874365.3:p.(Arg473Gly)	NC_000008.10:g.144892762G>C	VUS	1 lab	7549afc917
15:99251325 IGF1R G>T	15	99251325	99251325	G	T	IGF1R	c.629G>T	NM_000875.5	NP_000866.1:p.(Arg210Leu)	NC_000015.9:g.99251325G>T	(Likely) benign	1 lab	754b60c484
22:19349270 HIRA G>A	22	19349270	19349270	G	A	HIRA	c.1960C>T	NM_003325.4	NP_003316.3:p.(Pro654Ser)	NC_000022.10:g.19349270G>A	VUS	1 lab	754befaa65
1:17599930 PADI3 C>A	1	17599930	17599930	C	A	PADI3	c.1143C>A	NM_016233.2	NP_057317.2:p.(Tyr381Ter)	NC_000001.10:g.17599930C>A	(Likely) pathogenic	1 lab	754dc6c929
3:113652470 GRAMD1C T>C	3	113652470	113652470	T	C	GRAMD1C	c.1322T>C	NM_017577.5	NP_060047.3:p.(Ile441Thr)	NC_000003.11:g.113652470T>C	(Likely) benign	1 lab	754e209849
12:121434445 HNF1A C>G	12	121434445	121434445	C	G	HNF1A	c.1209C>G	NM_000545.8	NP_000536.6:p.(Leu403=)	NC_000012.11:g.121434445C>G	(Likely) benign	1 lab	754e8361be
16:30720909 SRCAP G>C	16	30720909	30720909	G	C	SRCAP	c.709G>C	NM_006662.3	NP_006653.2:p.(Val237Leu)	NC_000016.9:g.30720909G>C	VUS	1 lab	762d9a582f
20:43052910 HNF4A AG>A	20	43052910	43052912	AG	A	HNF4A	c.1129+18del	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43052912del	(Likely) benign	1 lab	754ee2ab65
X:68060141 EFNB1 G>T	X	68060141	68060141	G	T	EFNB1	c.685G>T	NM_004429.5	NP_004420.1:p.(Asp229Tyr)	NC_000023.10:g.68060141G>T	(Likely) benign	1 lab	754f00be9f
1:36023792 NCDN AT>A	1	36023792	36023793	AT	A	NCDN	c.2del	NM_014284.3	NP_055099.1:p.(Met1?)	NC_000001.10:g.36023793del	VUS	1 lab	75502ae8ca
15:89417237 ACAN C>T	15	89417237	89417237	C	T	ACAN	c.7612C>T	NM_001369268.1	NP_001356197.1:p.(Gln2538Ter)	NC_000015.9:g.89417237C>T	VUS	1 lab	755080aeb8
9:13176374 MPDZ T>A	9	13176374	13176374	T	A	MPDZ	c.2692A>T	NM_001378778.1	NP_001365707.1:p.(Met898Leu)	NC_000009.11:g.13176374T>A	(Likely) benign	1 lab	7551fca6f0
17:80159603 CCDC57 C>T	17	80159603	80159603	C	T	CCDC57	c.218G>A	NM_001394669.1	NP_001381598.1:p.(Arg73His)	NC_000017.10:g.80159603C>T	(Likely) benign	1 lab	75570f59a6
7:31013595 GHRHR C>T	7	31013595	31013595	C	T	GHRHR	c.598-5C>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013595C>T	(Likely) benign	1 lab	7559840dd6
18:73000373 TSHZ1 C>A	18	73000373	73000373	C	A	TSHZ1	c.3011C>A	NM_001308210.2	NP_001295139.1:p.(Pro1004Gln)	NC_000018.9:g.73000373C>A	(Likely) benign	1 lab	755acc307c
12:112893884 PTPN11 CTG>C	12	112893884	112893887	CTG	C	PTPN11	c.756+19_756+20del	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112893886_112893887del	(Likely) benign	1 lab	755b39194e
17:18576349 FOXO3B G>A	17	18576349	18576349	G	A	FOXO3B	c.146C>T	NM_001368135.1	NP_001355064.1:p.(Ala49Val)	NC_000017.10:g.18576349G>A	VUS	1 lab	755bf976dd
6:117237179 RFX6 G>A	6	117237179	117237179	G	A	RFX6	c.789G>A	NM_173560.4	NP_775831.2:p.(Thr263=)	NC_000006.11:g.117237179G>A	(Likely) benign	1 lab	755c666e65
3:111356067 CD96 C>G	3	111356067	111356067	C	G	CD96	c.1346C>G	NM_005816.5	NP_005807.1:p.(Thr449Arg)	NC_000003.11:g.111356067C>G	(Likely) benign	1 lab	755d046f16
17:44115918 KANSL1 TA>T	17	44115918	44115920	TA	T	KANSL1	c.2526del	NM_001193466.2	NP_001180395.1:p.(Thr843GlnfsTer9)	NC_000017.10:g.44115920del	VUS	1 lab	232f3d473f
14:32563081 ARHGAP5 A>G	14	32563081	32563081	A	G	ARHGAP5	c.3206A>G	NM_001030055.2	NP_001025226.1:p.(Asn1069Ser)	NC_000014.8:g.32563081A>G	VUS	1 lab	755ebd67ad
20:60639684 TAF4 CG>C	20	60639684	60639689	CG	C	TAF4	c.1182del	NM_003185.4	NP_003176.2:p.(Thr396ProfsTer13)	NC_000020.10:g.60639689del	VUS	1 lab	232ffc2f10
X:78216032 P2RY10 C>A	X	78216032	78216032	C	A	P2RY10	c.15C>A	NM_014499.4	NP_055314.1:p.(Asp5Glu)	NC_000023.10:g.78216032C>A	(Likely) benign	1 lab	755fb58b7d
1:2217727 SKI GC>G	1	2217727	2217730	GC	G	SKI	c.970-16687del	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2217730del	(Likely) benign	1 lab	75619fcb59
10:79769440 POLR3A G>C	10	79769440	79769440	G	C	POLR3A	c.1771-7C>G	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769440G>C	(Likely) pathogenic	1 lab	7561f7c95d
15:101608873 LRRK1 C>T	15	101608873	101608873	C	T	LRRK1	c.5871-3C>T	NM_024652.6	NP_078928.3:p.?	NC_000015.9:g.101608873C>T	(Likely) benign	1 lab	7562e88bf7
9:35403758 UNC13B G>A	9	35403758	35403758	G	A	UNC13B	c.12751G>A	NM_001371189.2	NP_001358118.1:p.(Glu4251Lys)	NC_000009.11:g.35403758G>A	VUS	1 lab	75632a4af6
19:42799294 CIC A>AG	19	42799294	42799295	A	AG	CIC	c.7506dup	NM_001386298.1	NP_001373227.1:p.(Pro2503AlafsTer20)	NC_000019.9:g.42799295dup	(Likely) benign	1 lab	7564674cdb
1:44467987 SLC6A9 G>A	1	44467987	44467987	G	A	SLC6A9	c.960C>T	NM_001024845.3	NP_001020016.1:p.(Tyr320=)	NC_000001.10:g.44467987G>A	(Likely) benign	1 lab	7565ba1127
19:54756415 LILRB5 G>A	19	54756415	54756415	G	A	LILRB5	c.1475-3C>T	NM_001081442.3	NP_001074911.2:p.?	NC_000019.9:g.54756415G>A	(Likely) benign	1 lab	7565c3763c
15:45365792 SORD G>A	15	45365792	45365792	G	A	SORD	n.1312G>A	NR_034039.2		NC_000015.9:g.45365792G>A	(Likely) benign	1 lab	24821b2295
16:2160217 PKD1 G>A	16	2160217	2160217	G	A	PKD1	c.4951C>T	NM_001009944.3	NP_001009944.3:p.(Gln1651Ter)	NC_000016.9:g.2160217G>A	(Likely) pathogenic	1 lab	75662fb6b2
1:225605808 LBR T>A	1	225605808	225605808	T	A	LBR	c.715A>T	NM_002296.4	NP_002287.2:p.(Ser239Cys)	NC_000001.10:g.225605808T>A	VUS	1 lab	75676ad311
19:46242927 MEIOSIN A>G	19	46242927	46242927	A	G	MEIOSIN	c.115A>G	NM_001310124.2	NP_001297053.1:p.(Asn39Asp)	NC_000019.9:g.46242927A>G	VUS	1 lab	7567da93fc
11:70336404 SHANK2 G>A	11	70336404	70336404	G	A	SHANK2	c.2528C>T	NM_012309.5	NP_036441.2:p.(Thr843Met)	NC_000011.9:g.70336404G>A	VUS	1 lab	756985c34e
1:103491160 COL11A1 C>T	1	103491160	103491160	C	T	COL11A1	c.907G>A	NM_001854.4	NP_001845.3:p.(Val303Ile)	NC_000001.10:g.103491160C>T	(Likely) benign	1 lab	756a68360d
6:75841754 COL12A1 G>T	6	75841754	75841754	G	T	COL12A1	c.5839C>A	NM_004370.6	NP_004361.3:p.(Pro1947Thr)	NC_000006.11:g.75841754G>T	(Likely) benign	1 lab	756b58e67e
12:65563920 LEMD3 G>T	12	65563920	65563920	G	T	LEMD3	c.544G>T	NM_014319.5	NP_055134.2:p.(Val182Leu)	NC_000012.11:g.65563920G>T	(Likely) benign	1 lab	756c1f67ff
4:106197243 TET2 T>C	4	106197243	106197243	T	C	TET2	c.5576T>C	NM_001127208.3	NP_001120680.1:p.(Ile1859Thr)	NC_000004.11:g.106197243T>C	VUS	1 lab	756fa0e70e
20:60927011 LAMA5 C>T	20	60927011	60927011	C	T	LAMA5	c.812G>A	NM_005560.6	NP_005551.3:p.(Gly271Asp)	NC_000020.10:g.60927011C>T	VUS	1 lab	756fc353b4
2:8938326 KIDINS220 T>C	2	8938326	8938326	T	C	KIDINS220	c.999+6A>G	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8938326T>C	(Likely) benign	1 lab	75714248c6
12:49446490 KMT2D A>T	12	49446490	49446490	A	T	KMT2D	c.1115T>A	NM_003482.4	NP_003473.3:p.(Phe372Tyr)	NC_000012.11:g.49446490A>T	(Likely) benign	1 lab	7571819bbf
20:43058239 HNF4A C>T	20	43058239	43058239	C	T	HNF4A	c.1359C>T	NM_000457.5	NP_000448.3:p.(Val453=)	NC_000020.10:g.43058239C>T	(Likely) benign	1 lab	75728db433
4:79418097 FRAS1 A>G	4	79418097	79418097	A	G	FRAS1	c.9097A>G	NM_025074.7	NP_079350.5:p.(Ile3033Val)	NC_000004.11:g.79418097A>G	(Likely) benign	1 lab	75735d8f2a
1:11854822 MTHFR C>T	1	11854822	11854822	C	T	MTHFR	c.1130G>A	NM_005957.5	NP_005948.3:p.(Arg377His)	NC_000001.10:g.11854822C>T	(Likely) pathogenic	1 lab	7574326267
16:3789607 CREBBP C>T	16	3789607	3789607	C	T	CREBBP	c.4252G>A	NM_004380.3	NP_004371.2:p.(Gly1418Ser)	NC_000016.9:g.3789607C>T	(Likely) benign	1 lab	7574588019
4:101982237 PPP3CA C>A	4	101982237	101982237	C	A	PPP3CA	c.1156+7G>T	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.101982237C>A	(Likely) benign	1 lab	7577bfabdd
19:5135389 KDM4B G>A	19	5135389	5135389	G	A	KDM4B	c.2125G>A	NM_015015.3	NP_055830.1:p.(Gly709Arg)	NC_000019.9:g.5135389G>A	VUS	1 lab	757a6d2400
12:122958646 ZCCHC8 C>T	12	122958646	122958646	C	T	ZCCHC8	c.1522G>A	NM_017612.5	NP_060082.2:p.(Gly508Arg)	NC_000012.11:g.122958646C>T	(Likely) benign	1 lab	757c769713
2:179478632 TTN A>G	2	179478632	179478632	A	G	TTN	c.49378T>C	NM_001267550.2	NP_001254479.2:p.(Ser16460Pro)	NC_000002.11:g.179478632A>G	(Likely) benign	1 lab	757c8caa69
5:13886235 DNAH5 G>A	5	13886235	13886235	G	A	DNAH5	c.2581C>T	NM_001369.3	NP_001360.1:p.(Leu861Phe)	NC_000005.9:g.13886235G>A	(Likely) benign	1 lab	757dade056
5:149495335 PDGFRB GCTAT>G	5	149495335	149495340	GCTAT	G	PDGFRB	c.3308_3311del	NM_002609.4	NP_002600.1:p.(Asp1103AlafsTer28)	NC_000005.9:g.149495337_149495340del	VUS	1 lab	757ecaf195
21:46310008 ITGB2 G>A	21	46310008	46310008	G	A	ITGB2	c.1542C>T	NM_000211.3	NP_000202.2:p.(Cys514=)	NC_000021.8:g.46310008G>A	(Likely) benign	1 lab	2482ccaec3
14:69259681 ZFP36L1 C>T	14	69259681	69259681	C	T	ZFP36L1	c.-26G>A	NM_004926.4	NP_004917.2:p.?	NC_000014.8:g.69259681C>T	(Likely) benign	1 lab	757febb567
17:10550042 MYH3 G>C	17	10550042	10550042	G	C	MYH3	c.898+457C>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10550042G>C	(Likely) benign	1 lab	7580a4690f
7:4827915 AP5Z1 G>A	7	4827915	4827915	G	A	AP5Z1	c.1585G>A	NM_014855.3	NP_055670.1:p.(Ala529Thr)	NC_000007.13:g.4827915G>A	VUS	1 lab	7582f5488f
4:6303734 WFS1 G>A	4	6303734	6303734	G	A	WFS1	c.2212G>A	NM_006005.3	NP_005996.2:p.(Ala738Thr)	NC_000004.11:g.6303734G>A	(Likely) benign	1 lab	75a846a8b2
1:200569610 KIF14 T>TTTGCAA	1	200569610	200569618	T	TTTGCAA	KIF14	c.2168_2173dup	NM_014875.3	NP_055690.1:p.(Ile723_Ala724dup)	NC_000001.10:g.200569613_200569618dup	VUS	1 lab	758317a060
1:35453304 ZMYM6 T>G	1	35453304	35453304	T	G	ZMYM6	c.3379A>C	NM_007167.4	NP_009098.3:p.(Asn1127His)	NC_000001.10:g.35453304T>G	(Likely) benign	1 lab	7585fa28a1
6:51915059 PKHD1 CCCT>C	6	51915059	51915062	CCCT	C	PKHD1	c.2172_2174del	NM_138694.4	NP_619639.3:p.(Gly726del)	NC_000006.11:g.51915060_51915062del	VUS	1 lab	75877e247a
15:89398813 ACAN A>T	15	89398813	89398813	A	T	ACAN	c.2997A>T	NM_001369268.1	NP_001356197.1:p.(Glu999Asp)	NC_000015.9:g.89398813A>T	VUS	1 lab	7587bccf9a
1:20980162 DDOST G>A	1	20980162	20980162	G	A	DDOST	c.900C>T	NM_005216.5	NP_005207.3:p.(Gly300=)	NC_000001.10:g.20980162G>A	VUS	1 lab	7588625cc2
7:143792760 OR2A12 C>T	7	143792760	143792760	C	T	OR2A12	c.560C>T	NM_001004135.2	NP_001004135.1:p.(Ala187Val)	NC_000007.13:g.143792760C>T	(Likely) benign	1 lab	758888df05
6:152702262 SYNE1 G>T	6	152702262	152702262	G	T	SYNE1	c.8888C>A	NM_182961.4	NP_892006.3:p.(Ala2963Asp)	NC_000006.11:g.152702262G>T	(Likely) benign	1 lab	7588950a19
19:55870455 GARIN5B G>T	19	55870455	55870455	G	T	GARIN5B	c.1781C>A	NM_001145402.2	NP_001138874.1:p.(Thr594Asn)	NC_000019.9:g.55870455G>T	VUS	1 lab	758adccf41
1:63894396 ALG6 G>A	1	63894396	63894396	G	A	ALG6	c.1059-8G>A	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63894396G>A	(Likely) benign	1 lab	758aef67bc
18:45394739 SMAD2 T>G	18	45394739	45394739	T	G	SMAD2	c.610A>C	NM_005901.6	NP_005892.1:p.(Thr204Pro)	NC_000018.9:g.45394739T>G	VUS	1 lab	758dace489
X:151808907 GABRQ G>T	X	151808907	151808907	G	T	GABRQ	c.218G>T	NM_018558.4	NP_061028.3:p.(Arg73Leu)	NC_000023.10:g.151808907G>T	VUS	1 lab	7591281f5c
3:33087608 GLB1 C>T	3	33087608	33087608	C	T	GLB1	c.1068+4G>A	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33087608C>T	(Likely) benign	1 lab	7593742d8d
5:88047755 MEF2C A>G	5	88047755	88047755	A	G	MEF2C	c.508T>C	NM_002397.5	NP_002388.2:p.(Leu170=)	NC_000005.9:g.88047755A>G	(Likely) benign	1 lab	24840cc24b
12:56481424 ERBB3 C>T	12	56481424	56481424	C	T	ERBB3	c.611C>T	NM_001982.4	NP_001973.2:p.(Thr204Ile)	NC_000012.11:g.56481424C>T	VUS	1 lab	75968ac504
X:22002498 SMS A>T	X	22002498	22002498	A	T	SMS	c.827A>T	NM_004595.5	NP_004586.2:p.(Asp276Val)	NC_000023.10:g.22002498A>T	VUS	1 lab	234be48e05
22:51135984 SHANK3 G>GGCCCCGGCCCCGCGCCCGGC	22	51135984	51135985	G	GGCCCCGGCCCCGCGCCCGGC	SHANK3	c.1567-1_1567insGCCCCGGCCCCGCGCCCGGC	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135984_51135985insGCCCCGGCCCCGCGCCCGGC	(Likely) benign	1 lab	7596f7b297
6:7246661 RREB1 T>A	6	7246661	7246661	T	A	RREB1	c.3978T>A	NM_001003699.4	NP_001003699.1:p.(Ser1326Arg)	NC_000006.11:g.7246661T>A	VUS	1 lab	7599467c02
12:57598512 LRP1 G>A	12	57598512	57598512	G	A	LRP1	c.11174G>A	NM_002332.3	NP_002323.2:p.(Gly3725Glu)	NC_000012.11:g.57598512G>A	(Likely) benign	1 lab	759c0af585
11:134062648 NCAPD3 C>A	11	134062648	134062648	C	A	NCAPD3	c.1981G>T	NM_015261.3	NP_056076.1:p.(Asp661Tyr)	NC_000011.9:g.134062648C>A	(Likely) benign	1 lab	759c58f743
12:49432426 KMT2D G>A	12	49432426	49432426	G	A	KMT2D	c.8713C>T	NM_003482.4	NP_003473.3:p.(Arg2905Cys)	NC_000012.11:g.49432426G>A	(Likely) benign	1 lab	759c6663d1
5:140052341 DND1 C>A	5	140052341	140052341	C	A	DND1	c.293G>T	NM_194249.3	NP_919225.1:p.(Arg98Leu)	NC_000005.9:g.140052341C>A	VUS	1 lab	759eefef36
19:18995049 GDF1 C>T	19	18995049	18995049	C	T	GDF1	c.-886G>A	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18995049C>T	VUS	1 lab	759f3bafc5
4:3076603 HTT C>CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	HTT	c.75_110dup	NM_001388492.1	NP_001375421.1:p.(Gln27_Gln38dup)	NC_000004.11:g.3076627_3076662dup	VUS	1 lab	75a0618b0e
12:13716214 GRIN2B G>A	12	13716214	13716214	G	A	GRIN2B	c.3958C>T	NM_000834.5	NP_000825.2:p.(Arg1320Cys)	NC_000012.11:g.13716214G>A	VUS	1 lab	2334984370
16:88782329 PIEZO1 CCACT>C	16	88782329	88782340	CCACT	C	PIEZO1	c.7316+8_7316+11del	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88782337_88782340del	(Likely) benign	1 lab	75a412e252
10:127727881 ADAM12 GTCT>G	10	127727881	127727888	GTCT	G	ADAM12	c.2219_2221del	NM_001288973.2	NP_001275902.1:p.(Lys740del)	NC_000010.10:g.127727886_127727888del	VUS	1 lab	75a4336407
16:2167891 PKD1 G>A	16	2167891	2167891	G	A	PKD1	c.1102C>T	NM_001009944.3	NP_001009944.3:p.(Gln368Ter)	NC_000016.9:g.2167891G>A	(Likely) pathogenic	1 lab	75a4ca9631
17:11827205 DNAH9 G>A	17	11827205	11827205	G	A	DNAH9	c.11824G>A	NM_001372.4	NP_001363.2:p.(Ala3942Thr)	NC_000017.10:g.11827205G>A	VUS	1 lab	75a68b80aa
16:83945920 MLYCD A>G	16	83945920	83945920	A	G	MLYCD	c.896A>G	NM_012213.3	NP_036345.2:p.(Gln299Arg)	NC_000016.9:g.83945920A>G	VUS	1 lab	75a6b81b09
15:89399986 ACAN CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAG>C	15	89399986	89400096	CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAG	C	ACAN	c.4224_4280del	NM_001369268.1	NP_001356197.1:p.(Glu1408_Val1426del)	NC_000015.9:g.89400040_89400096del	(Likely) benign	1 lab	75a90e1318
9:134398299 POMT1 C>T	9	134398299	134398299	C	T	POMT1	c.2004-20C>T	NM_001077365.2	NP_001070833.1:p.?	NC_000009.11:g.134398299C>T	(Likely) benign	1 lab	75a9accc20
2:160295525 BAZ2B T>G	2	160295525	160295525	T	G	BAZ2B	c.895A>C	NM_013450.4	NP_038478.2:p.(Asn299His)	NC_000002.11:g.160295525T>G	(Likely) benign	1 lab	75a9d4ff3a
8:145730678 GPT T>TGCTC	8	145730678	145730682	T	TGCTC	GPT	c.546_549dup	NM_005309.3	NP_005300.1:p.(Ile184AlafsTer48)	NC_000008.10:g.145730679_145730682dup	VUS	1 lab	75abd7609c
1:180471319 ACBD6 A>AC	1	180471319	180471321	A	AC	ACBD6	c.82dup	NM_032360.4	NP_115736.1:p.(Val28GlyfsTer6)	NC_000001.10:g.180471321dup	(Likely) pathogenic	1 lab	75ad005496
2:86327759 POLR1A T>A	2	86327759	86327759	T	A	POLR1A	c.78-464A>T	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86327759T>A	(Likely) benign	1 lab	75adad09d9
2:218745660 TNS1 A>C	2	218745660	218745660	A	C	TNS1	c.1390T>G	NM_001387777.1	NP_001374706.1:p.(Tyr464Asp)	NC_000002.11:g.218745660A>C	VUS	1 lab	75ae6ab4d7
11:62294725 AHNAK C>CCGT	11	62294725	62294726	C	CCGT	AHNAK	c.7163_7164insACG	NM_001620.3	NP_001611.1:p.(Met2388delinsIleArg)	NC_000011.9:g.62294725_62294726insCGT	(Likely) benign	1 lab	75afcd711d
3:49083878 QRICH1 T>C	3	49083878	49083878	T	C	QRICH1	c.1651A>G	NM_198880.3	NP_942581.1:p.(Ile551Val)	NC_000003.11:g.49083878T>C	(Likely) benign	1 lab	75b067b9ea
22:51113597 SHANK3 G>A	22	51113597	51113597	G	A	SHANK3	c.410G>A	NM_001372044.2	NP_001358973.1:p.(Gly137Asp)	NC_000022.10:g.51113597G>A	VUS	1 lab	75b13c016f
3:9055485 SRGAP3 T>A	3	9055485	9055485	T	A	SRGAP3	c.1855A>T	NM_014850.4	NP_055665.1:p.(Ile619Phe)	NC_000003.11:g.9055485T>A	VUS	1 lab	75b1a6c310
4:126402669 FAT4 C>T	4	126402669	126402669	C	T	FAT4	c.12605-7C>T	NM_001291303.3	NP_001278232.1:p.?	NC_000004.11:g.126402669C>T	(Likely) benign	1 lab	75b1f2b34c
1:8416280 RERE C>T	1	8416280	8416280	C	T	RERE	c.4366G>A	NM_001042681.2	NP_001036146.1:p.(Val1456Ile)	NC_000001.10:g.8416280C>T	VUS	1 lab	75b549404c
8:145661055 TONSL C>G	8	145661055	145661055	C	G	TONSL	c.2761G>C	NM_013432.5	NP_038460.4:p.(Ala921Pro)	NC_000008.10:g.145661055C>G	(Likely) benign	1 lab	75b72992f5
19:42482319 ATP1A3 C>T	19	42482319	42482319	C	T	ATP1A3	c.1790G>A	NM_152296.5	NP_689509.1:p.(Arg597His)	NC_000019.9:g.42482319C>T	(Likely) pathogenic	1 lab	75b9a7fc5a
15:78401634 CIB2 C>T	15	78401634	78401634	C	T	CIB2	c.289G>A	NM_006383.4	NP_006374.1:p.(Val97Met)	NC_000015.9:g.78401634C>T	VUS	1 lab	75bd468955
16:23391981 SCNN1B G>A	16	23391981	23391981	G	A	SCNN1B	c.1782G>A	NM_000336.3	NP_000327.2:p.(Thr594=)	NC_000016.9:g.23391981G>A	(Likely) benign	1 lab	2487235b72
18:19751681 GATA6 C>T	18	19751681	19751681	C	T	GATA6	c.576C>T	NM_005257.6	NP_005248.2:p.(Thr192=)	NC_000018.9:g.19751681C>T	(Likely) benign	1 lab	75bd9d947c
19:50098351 PRR12 T>TGCC	19	50098351	50098362	T	TGCC	PRR12	c.768_770dup	NM_020719.3	NP_065770.1:p.(Ala258dup)	NC_000019.9:g.50098360_50098362dup	VUS	1 lab	75be351fbb
2:189393884 GULP1 T>C	2	189393884	189393884	T	C	GULP1	c.223T>C	NM_016315.4	NP_057399.1:p.(Ser75Pro)	NC_000002.11:g.189393884T>C	VUS	1 lab	75beb1e529
1:220300177 IARS2 T>G	1	220300177	220300177	T	G	IARS2	c.1829T>G	NM_018060.4	NP_060530.3:p.(Val610Gly)	NC_000001.10:g.220300177T>G	VUS	1 lab	75bf59c70d
6:83900752 PGM3 T>C	6	83900752	83900752	T	C	PGM3	c.83-19A>G	NM_001199917.2	NP_001186846.1:p.?	NC_000006.11:g.83900752T>C	(Likely) benign	1 lab	248d72b3da
19:13423526 CACNA1A G>A	19	13423526	13423526	G	A	CACNA1A	c.1625C>T	NM_001127222.2	NP_001120694.1:p.(Thr542Met)	NC_000019.9:g.13423526G>A	(Likely) benign	1 lab	75bfa2eb5e
5:140907256 DIAPH1 C>A	5	140907256	140907256	C	A	DIAPH1	c.3157G>T	NM_005219.5	NP_005210.3:p.(Glu1053Ter)	NC_000005.9:g.140907256C>A	(Likely) benign	1 lab	75c025d354
17:60042724 MED13 G>A	17	60042724	60042724	G	A	MED13	c.4487C>T	NM_005121.3	NP_005112.2:p.(Thr1496Ile)	NC_000017.10:g.60042724G>A	VUS	1 lab	75c03a864c
4:88536196 DSPP C>A	4	88536196	88536196	C	A	DSPP	c.2382C>A	NM_014208.3	NP_055023.2:p.(Ser794Arg)	NC_000004.11:g.88536196C>A	(Likely) benign	1 lab	75c0a8a80f
10:114711234 TCF7L2 C>T	10	114711234	114711234	C	T	TCF7L2	c.257-8C>T	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114711234C>T	(Likely) benign	1 lab	75c39b5f69
18:51888255 C18orf54 T>C	18	51888255	51888255	T	C	C18orf54	c.526T>C	NM_001288980.2	NP_001275909.1:p.(Ser176Pro)	NC_000018.9:g.51888255T>C	(Likely) benign	1 lab	75c5c28143
11:124793715 HEPACAM C>T	11	124793715	124793715	C	T	HEPACAM	c.619G>A	NM_152722.5	NP_689935.2:p.(Val207Met)	NC_000011.9:g.124793715C>T	VUS	1 lab	75c91297ab
11:76893500 MYO7A G>A	11	76893500	76893500	G	A	MYO7A	c.3140G>A	NM_000260.4	NP_000251.3:p.(Arg1047His)	NC_000011.9:g.76893500G>A	VUS	1 lab	75c9df67cd
14:64066363 WDR89 G>A	14	64066363	64066363	G	A	WDR89	c.298C>T	NM_080666.4	NP_542397.1:p.(Arg100Ter)	NC_000014.8:g.64066363G>A	(Likely) benign	1 lab	75ca15e20b
X:48434902 RBM3 G>T	X	48434902	48434902	G	T	RBM3	c.323G>T	NM_006743.5	NP_006734.1:p.(Gly108Val)	NC_000023.10:g.48434902G>T	VUS	1 lab	75caefb238
7:101862335 CUX1 A>AAC	7	101862335	101862375	A	AAC	CUX1	c.3131-8273_3131-8272dup	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101862374_101862375dup	(Likely) benign	1 lab	75caf1ba51
15:99456315 IGF1R C>T	15	99456315	99456315	C	T	IGF1R	c.1632C>T	NM_000875.5	NP_000866.1:p.(Cys544=)	NC_000015.9:g.99456315C>T	(Likely) benign	1 lab	75cbb4a13a
9:33524698 ANKRD18B C>A	9	33524698	33524698	C	A	ANKRD18B	c.206+5C>A	NM_001393611.1	NP_001380540.1:p.?	NC_000009.11:g.33524698C>A	(Likely) benign	1 lab	75ce5ba9f8
12:88520195 CEP290 A>T	12	88520195	88520195	A	T	CEP290	c.963T>A	NM_025114.4	NP_079390.3:p.(Asp321Glu)	NC_000012.11:g.88520195A>T	VUS	1 lab	75cfdd9e41
3:8609186 LMCD1 G>A	3	8609186	8609186	G	A	LMCD1	c.1000G>A	NM_014583.4	NP_055398.1:p.(Val334Ile)	NC_000003.11:g.8609186G>A	(Likely) benign	1 lab	75cfeb47eb
21:30698774 BACH1 T>C	21	30698774	30698774	T	C	BACH1	c.629T>C	NM_001186.4	NP_001177.1:p.(Met210Thr)	NC_000021.8:g.30698774T>C	(Likely) benign	1 lab	75d027a279
7:44187277 GCK C>T	7	44187277	44187277	C	T	GCK	c.835G>A	NM_000162.5	NP_000153.1:p.(Glu279Lys)	NC_000007.13:g.44187277C>T	(Likely) benign	1 lab	75d099dd58
18:56054673 NEDD4L A>C	18	56054673	56054673	A	C	NEDD4L	c.2490A>C	NM_001144967.3	NP_001138439.1:p.(Gly830=)	NC_000018.9:g.56054673A>C	(Likely) benign	1 lab	75d1443420
1:98164916 DPYD C>T	1	98164916	98164916	C	T	DPYD	c.671G>A	NM_000110.4	NP_000101.2:p.(Gly224Asp)	NC_000001.10:g.98164916C>T	VUS	1 lab	75d32b180c
1:20141070 RNF186 C>T	1	20141070	20141070	C	T	RNF186	c.525G>A	NM_019062.2	NP_061935.1:p.(Pro175=)	NC_000001.10:g.20141070C>T	(Likely) benign	1 lab	75d507cac0
12:122294234 HPD A>G	12	122294234	122294234	A	G	HPD	c.320T>C	NM_002150.3	NP_002141.2:p.(Val107Ala)	NC_000012.11:g.122294234A>G	VUS	1 lab	75d651275c
11:65307842 LTBP3 A>C	11	65307842	65307842	A	C	LTBP3	c.3118T>G	NM_001130144.3	NP_001123616.1:p.(Cys1040Gly)	NC_000011.9:g.65307842A>C	VUS	1 lab	75d6b1ee8a
10:94396957 KIF11 ATCT>A	10	94396957	94396963	ATCT	A	KIF11	c.1896_1898del	NM_004523.4	NP_004514.2:p.(Leu633del)	NC_000010.10:g.94396961_94396963del	VUS	1 lab	75d8ca43be
9:70918607 FOXD4L3 C>A	9	70918607	70918607	C	A	FOXD4L3	c.740C>A	NM_199135.4	NP_954586.4:p.(Pro247Gln)	NC_000009.11:g.70918607C>A	(Likely) benign	1 lab	75d90cee12
4:3076672 HTT ACCG>A	4	3076672	3076695	ACCG	A	HTT	c.141_143del	NM_001388492.1	NP_001375421.1:p.(Pro49del)	NC_000004.11:g.3076693_3076695del	(Likely) benign	1 lab	75d9363137
2:128044468 ERCC3 C>T	2	128044468	128044468	C	T	ERCC3	c.1153G>A	NM_000122.2	NP_000113.1:p.(Asp385Asn)	NC_000002.11:g.128044468C>T	VUS	1 lab	75d9a7de43
13:51854788 FAM124A G>A	13	51854788	51854788	G	A	FAM124A	c.1037G>A	NM_001242312.2	NP_001229241.1:p.(Arg346Gln)	NC_000013.10:g.51854788G>A	(Likely) benign	1 lab	75d9b54a93
12:49442543 KMT2D T>C	12	49442543	49442543	T	C	KMT2D	c.4030A>G	NM_003482.4	NP_003473.3:p.(Ile1344Val)	NC_000012.11:g.49442543T>C	VUS	1 lab	75dc9d7507
17:10538852 MYH3 T>C	17	10538852	10538852	T	C	MYH3	c.4004A>G	NM_002470.4	NP_002461.2:p.(Gln1335Arg)	NC_000017.10:g.10538852T>C	VUS	1 lab	75e0a50a23
11:68115647 LRP5 C>T	11	68115647	68115647	C	T	LRP5	c.424C>T	NM_002335.4	NP_002326.2:p.(Arg142Trp)	NC_000011.9:g.68115647C>T	VUS	1 lab	75e0e1232f
18:3879984 DLGAP1 G>A	18	3879984	3879984	G	A	DLGAP1	c.85C>T	NM_004746.4	NP_004737.2:p.(Arg29Cys)	NC_000018.9:g.3879984G>A	VUS	1 lab	77a3ad10d1
2:179641961 TTN C>G	2	179641961	179641961	C	G	TTN	c.4729G>C	NM_001267550.2	NP_001254479.2:p.(Val1577Leu)	NC_000002.11:g.179641961C>G	(Likely) benign	1 lab	75e0e27389
X:140994603 MAGEC1 G>A	X	140994603	140994603	G	A	MAGEC1	c.1413G>A	NM_005462.5	NP_005453.2:p.(Glu471=)	NC_000023.10:g.140994603G>A	(Likely) benign	1 lab	75e1e77aa0
17:11806120 DNAH9 G>A	17	11806120	11806120	G	A	DNAH9	c.11491G>A	NM_001372.4	NP_001363.2:p.(Glu3831Lys)	NC_000017.10:g.11806120G>A	VUS	1 lab	75e21526cf
11:6646966 DCHS1 C>T	11	6646966	6646966	C	T	DCHS1	c.6732-8G>A	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6646966C>T	(Likely) benign	1 lab	7673eb6dd4
22:41550992 EP300 T>G	22	41550992	41550992	T	G	EP300	c.3143-7T>G	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41550992T>G	(Likely) benign	1 lab	75e2291f63
16:2522472 NTN3 GCAATGGACAT>G	16	2522472	2522482	GCAATGGACAT	G	NTN3	c.771_780del	NM_006181.3	NP_006172.1:p.(Cys257TrpfsTer13)	NC_000016.9:g.2522473_2522482del	VUS	1 lab	75e3329fbc
7:100639007 MUC12 C>G	7	100639007	100639007	C	G	MUC12	c.5163C>G	NM_001164462.2	NP_001157934.1:p.(Ser1721Arg)	NC_000007.13:g.100639007C>G	VUS	1 lab	75e5111e0e
2:65243638 SLC1A4 G>A	2	65243638	65243638	G	A	SLC1A4	c.865G>A	NM_003038.5	NP_003029.2:p.(Val289Met)	NC_000002.11:g.65243638G>A	VUS	1 lab	75e6276dab
16:46726434 ORC6 C>CA	16	46726434	46726435	C	CA	ORC6	c.337dup	NM_014321.4	NP_055136.1:p.(Met113AsnfsTer10)	NC_000016.9:g.46726435dup	(Likely) pathogenic	1 lab	75eac90306
5:140762659 PCDHGA1 C>T	5	140762659	140762659	C	T	PCDHGA1	c.2421+49987C>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140762659C>T	VUS	1 lab	75eb4df466
15:90208827 PLIN1 C>G	15	90208827	90208827	C	G	PLIN1	c.1556G>C	NM_002666.5	NP_002657.3:p.(Arg519Pro)	NC_000015.9:g.90208827C>G	(Likely) benign	1 lab	75ec085de0
13:111294837 CARS2 A>C	13	111294837	111294837	A	C	CARS2	c.1448T>G	NM_024537.4	NP_078813.1:p.(Leu483Trp)	NC_000013.10:g.111294837A>C	VUS	1 lab	75ed1186bf
4:122784374 BBS7 C>T	4	122784374	122784374	C	T	BBS7	c.163G>A	NM_176824.3	NP_789794.1:p.(Ala55Thr)	NC_000004.11:g.122784374C>T	VUS	1 lab	75ed4cacd7
1:229631661 NUP133 T>C	1	229631661	229631661	T	C	NUP133	c.953A>G	NM_018230.3	NP_060700.2:p.(Glu318Gly)	NC_000001.10:g.229631661T>C	VUS	1 lab	75f0b3805c
3:195510227 MUC4 T>C	3	195510227	195510227	T	C	MUC4	c.8224A>G	NM_018406.7	NP_060876.5:p.(Thr2742Ala)	NC_000003.11:g.195510227T>C	(Likely) benign	1 lab	75f0ec534f
6:33646608 ITPR3 A>C	6	33646608	33646608	A	C	ITPR3	c.3964A>C	NM_002224.4	NP_002215.2:p.(Met1322Leu)	NC_000006.11:g.33646608A>C	VUS	1 lab	75f1378c16
19:33878811 PEPD A>G	19	33878811	33878811	A	G	PEPD	c.1329T>C	NM_000285.4	NP_000276.2:p.(Phe443=)	NC_000019.9:g.33878811A>G	(Likely) benign	1 lab	249179c3ae
9:119460518 ASTN2 G>A	9	119460518	119460518	G	A	ASTN2	c.2806+27532C>T	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460518G>A	VUS	1 lab	75f53cc48f
16:70815882 VAC14 A>G	16	70815882	70815882	A	G	VAC14	c.836T>C	NM_018052.5	NP_060522.3:p.(Met279Thr)	NC_000016.9:g.70815882A>G	VUS	1 lab	75f5aaf842
10:50946024 OGDHL C>T	10	50946024	50946024	C	T	OGDHL	c.2486G>A	NM_018245.3	NP_060715.2:p.(Arg829His)	NC_000010.10:g.50946024C>T	VUS	1 lab	75f7a85502
2:132021285 POTEE T>A	2	132021285	132021285	T	A	POTEE	c.2257T>A	NM_001083538.3	NP_001077007.1:p.(Tyr753Asn)	NC_000002.11:g.132021285T>A	(Likely) benign	1 lab	75f808d3fb
3:126749081 PLXNA1 C>A	3	126749081	126749081	C	A	PLXNA1	c.5062-5C>A	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126749081C>A	VUS	1 lab	75fa3fe339
3:126733333 PLXNA1 A>G	3	126733333	126733333	A	G	PLXNA1	c.2617A>G	NM_032242.4	NP_115618.3:p.(Thr873Ala)	NC_000003.11:g.126733333A>G	(Likely) benign	1 lab	75fba96911
1:156106044 LMNA T>C	1	156106044	156106044	T	C	LMNA	c.1197T>C	NM_170707.4	NP_733821.1:p.(Arg399=)	NC_000001.10:g.156106044T>C	(Likely) benign	1 lab	760c0cc269
19:8997507 MUC16 G>A	19	8997507	8997507	G	A	MUC16	c.43441C>T	NM_001401501.2	NP_001388430.1:p.(Leu14481Phe)	NC_000019.9:g.8997507G>A	(Likely) benign	1 lab	76005cb108
17:38245672 THRA C>A	17	38245672	38245672	C	A	THRA	c.1196C>A	NM_199334.5	NP_955366.1:p.(Pro399Gln)	NC_000017.10:g.38245672C>A	VUS	1 lab	76010d7de8
1:22183875 HSPG2 G>A	1	22183875	22183875	G	A	HSPG2	c.5297C>T	NM_005529.7	NP_005520.4:p.(Ala1766Val)	NC_000001.10:g.22183875G>A	(Likely) benign	1 lab	760363c65e
X:153296207 MECP2 C>T	X	153296207	153296207	C	T	MECP2	c.1108G>A	NM_001110792.2	NP_001104262.1:p.(Ala370Thr)	NC_000023.10:g.153296207C>T	(Likely) benign	1 lab	7603af9741
9:32986036 APTX AAAAACAAAAAAAAAAAC>A	9	32986036	32986057	AAAAACAAAAAAAAAAAC	A	APTX	c.484-25_484-9del	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32986041_32986057del	(Likely) benign	1 lab	7604f32eca
16:4943580 PPL T>C	16	4943580	4943580	T	C	PPL	c.1454A>G	NM_002705.5	NP_002696.4:p.(Gln485Arg)	NC_000016.9:g.4943580T>C	VUS	1 lab	76057f4167
3:133119151 BFSP2 G>A	3	133119151	133119151	G	A	BFSP2	c.224G>A	NM_003571.4	NP_003562.1:p.(Arg75His)	NC_000003.11:g.133119151G>A	VUS	1 lab	76058e7f58
X:125299303 DCAF12L2 C>G	X	125299303	125299303	C	G	DCAF12L2	c.605G>C	NM_001013628.3	NP_001013650.1:p.(Trp202Ser)	NC_000023.10:g.125299303C>G	VUS	1 lab	76070e745f
4:3445784 HGFAC C>T	4	3445784	3445784	C	T	HGFAC	c.494C>T	NM_001528.4	NP_001519.1:p.(Ala165Val)	NC_000004.11:g.3445784C>T	VUS	1 lab	76073557ad
3:142075823 XRN1 A>T	3	142075823	142075823	A	T	XRN1	c.3603T>A	NM_001282857.2	NP_001269786.1:p.(Ser1201Arg)	NC_000003.11:g.142075823A>T	VUS	1 lab	760a8d6248
X:69650945 GDPD2 G>A	X	69650945	69650945	G	A	GDPD2	c.1307+1032G>A	NM_017711.4	NP_060181.2:p.?	NC_000023.10:g.69650945G>A	VUS	1 lab	760bd7145e
17:35646416 ACACA C>T	17	35646416	35646416	C	T	ACACA	c.339-4545G>A	NM_198834.3	NP_942131.1:p.?	NC_000017.10:g.35646416C>T	VUS	1 lab	763be7b318
11:73768488 C2CD3 T>C	11	73768488	73768488	T	C	C2CD3	c.5053A>G	NM_001286577.2	NP_001273506.1:p.(Thr1685Ala)	NC_000011.9:g.73768488T>C	(Likely) benign	1 lab	760c6f662c
11:28352354 METTL15 G>A	11	28352354	28352354	G	A	METTL15	c.1190G>A	NM_001113528.2	NP_001107000.1:p.(Arg397His)	NC_000011.9:g.28352354G>A	VUS	1 lab	760ed7995e
1:1273823 DVL1 G>C	1	1273823	1273823	G	C	DVL1	c.1340-7C>G	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1273823G>C	(Likely) benign	1 lab	760fa47750
4:1806570 FGFR3 C>G	4	1806570	1806570	C	G	FGFR3	c.1286C>G	NM_000142.5	NP_000133.1:p.(Ala429Gly)	NC_000004.11:g.1806570C>G	VUS	1 lab	7613056edd
3:120413055 RABL3 C>T	3	120413055	120413055	C	T	RABL3	c.551G>A	NM_173825.5	NP_776186.2:p.(Arg184Gln)	NC_000003.11:g.120413055C>T	VUS	1 lab	7614f44787
16:68358725 PRMT7 A>G	16	68358725	68358725	A	G	PRMT7	c.272A>G	NM_019023.5	NP_061896.1:p.(Tyr91Cys)	NC_000016.9:g.68358725A>G	VUS	1 lab	76156d315c
1:160165254 CASQ1 A>G	1	160165254	160165254	A	G	CASQ1	c.581A>G	NM_001231.5	NP_001222.3:p.(Tyr194Cys)	NC_000001.10:g.160165254A>G	VUS	1 lab	7617f3de0d
2:210683041 UNC80 C>T	2	210683041	210683041	C	T	UNC80	c.1693+365C>T	NM_001371986.1	NP_001358915.1:p.?	NC_000002.11:g.210683041C>T	(Likely) benign	1 lab	76189304eb
X:140994367 MAGEC1 C>T	X	140994367	140994367	C	T	MAGEC1	c.1177C>T	NM_005462.5	NP_005453.2:p.(Pro393Ser)	NC_000023.10:g.140994367C>T	(Likely) benign	1 lab	761e6c4c19
18:74625806 ZNF236 G>A	18	74625806	74625806	G	A	ZNF236	c.3013G>A	NM_001306089.2	NP_001293018.1:p.(Gly1005Ser)	NC_000018.9:g.74625806G>A	(Likely) benign	1 lab	7620013844
2:160194150 BAZ2B T>C	2	160194150	160194150	T	C	BAZ2B	c.5480A>G	NM_001289975.1	NP_001276904.1:p.(Glu1827Gly)	NC_000002.11:g.160194150T>C	VUS	1 lab	233de2c489
5:60628704 ZSWIM6 A>G	5	60628704	60628704	A	G	ZSWIM6	c.605A>G	NM_020928.2	NP_065979.1:p.(Glu202Gly)	NC_000005.9:g.60628704A>G	(Likely) benign	1 lab	7624a005ee
1:110116624 GNAI3 C>T	1	110116624	110116624	C	T	GNAI3	c.268C>T	NM_006496.4	NP_006487.1:p.(Arg90Trp)	NC_000001.10:g.110116624C>T	(Likely) benign	1 lab	762521d1ff
1:32672188 IQCC T>C	1	32672188	32672188	T	C	IQCC	c.265T>C	NM_018134.3	NP_060604.2:p.(Cys89Arg)	NC_000001.10:g.32672188T>C	(Likely) benign	1 lab	76260b3685
17:18233902 SHMT1 A>G	17	18233902	18233902	A	G	SHMT1	c.1138T>C	NM_004169.5	NP_004160.3:p.(Cys380Arg)	NC_000017.10:g.18233902A>G	VUS	1 lab	762626b200
1:43225027 P3H1 T>G	1	43225027	43225027	T	G	P3H1	c.653A>C	NM_022356.4	NP_071751.3:p.(Glu218Ala)	NC_000001.10:g.43225027T>G	(Likely) benign	1 lab	76279fe5f3
4:124177283 AFG2A A>C	4	124177283	124177283	A	C	AFG2A	c.2453A>C	NM_145207.3	NP_660208.2:p.(Glu818Ala)	NC_000004.11:g.124177283A>C	VUS	1 lab	762882f06f
2:143798037 KYNU C>A	2	143798037	143798037	C	A	KYNU	c.1082C>A	NM_003937.3	NP_003928.1:p.(Ser361Tyr)	NC_000002.11:g.143798037C>A	VUS	1 lab	762a51f8d6
7:107557260 DLD TA>T	7	107557260	107557263	TA	T	DLD	c.900del	NM_000108.5	NP_000099.2:p.(Ala301LeufsTer24)	NC_000007.13:g.107557263del	VUS	1 lab	762a93aaca
3:38627165 SCN5A G>T	3	38627165	38627165	G	T	SCN5A	c.2787+17C>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38627165G>T	(Likely) benign	1 lab	249442aad3
2:228771023 DAW1 T>C	2	228771023	228771023	T	C	DAW1	c.827T>C	NM_178821.3	NP_849143.1:p.(Ile276Thr)	NC_000002.11:g.228771023T>C	VUS	1 lab	762eddc783
2:228205094 MFF T>TCTAC	2	228205094	228205097	T	TCTAC	MFF	c.440_440+1insACCT	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228205096_228205097insACCT	(Likely) benign	1 lab	762eeece16
16:89805539 FANCA G>A	16	89805539	89805539	G	A	FANCA	c.4167+2C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805539G>A	(Likely) benign	1 lab	762f40d171
14:105415027 AHNAK2 G>A	14	105415027	105415027	G	A	AHNAK2	c.6761C>T	NM_138420.4	NP_612429.2:p.(Pro2254Leu)	NC_000014.8:g.105415027G>A	VUS	1 lab	762f6b48f0
9:130423449 STXBP1 G>A	9	130423449	130423449	G	A	STXBP1	c.394G>A	NM_003165.6	NP_003156.1:p.(Glu132Lys)	NC_000009.11:g.130423449G>A	VUS	1 lab	233e443cce
2:179460233 TTN C>T	2	179460233	179460233	C	T	TTN	c.57847+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460233C>T	(Likely) benign	1 lab	762fc0eb80
2:33482546 LTBP1 G>A	2	33482546	33482546	G	A	LTBP1	c.2363G>A	NM_206943.4	NP_996826.3:p.(Arg788Gln)	NC_000002.11:g.33482546G>A	VUS	1 lab	76305272d5
8:145540305 DGAT1 G>A	8	145540305	145540305	G	A	DGAT1	c.1379C>T	NM_012079.6	NP_036211.2:p.(Ser460Leu)	NC_000008.10:g.145540305G>A	VUS	1 lab	23410cdb92
12:121431403 HNF1A C>T	12	121431403	121431403	C	T	HNF1A	c.607C>T	NM_000545.8	NP_000536.6:p.(Arg203Cys)	NC_000012.11:g.121431403C>T	(Likely) pathogenic	1 lab	7632165c2b
2:63609232 WDPCP A>G	2	63609232	63609232	A	G	WDPCP	c.1436-3T>C	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63609232A>G	(Likely) benign	1 lab	76321a72c6
9:67938655 ANKRD20A1 T>C	9	67938655	67938655	T	C	ANKRD20A1	c.790T>C	NM_032250.5	NP_115626.2:p.(Ser264Pro)	NC_000009.11:g.67938655T>C	(Likely) benign	1 lab	76349d7b94
9:139983467 MAN1B1 G>A	9	139983467	139983467	G	A	MAN1B1	c.465+10G>A	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.139983467G>A	(Likely) benign	1 lab	76351a06af
10:28897124 WAC C>T	10	28897124	28897124	C	T	WAC	c.929C>T	NM_016628.5	NP_057712.2:p.(Ser310Leu)	NC_000010.10:g.28897124C>T	(Likely) benign	1 lab	7635e11bb0
11:46896498 LRP4 C>T	11	46896498	46896498	C	T	LRP4	c.4082G>A	NM_002334.4	NP_002325.2:p.(Arg1361His)	NC_000011.9:g.46896498C>T	VUS	1 lab	763625fa18
10:70775757 KIFBP T>C	10	70775757	70775757	T	C	KIFBP	c.1451T>C	NM_015634.4	NP_056449.1:p.(Met484Thr)	NC_000010.10:g.70775757T>C	VUS	1 lab	76377e2c32
15:63092900 TLN2 G>C	15	63092900	63092900	G	C	TLN2	c.6409G>C	NM_015059.3	NP_055874.2:p.(Glu2137Gln)	NC_000015.9:g.63092900G>C	(Likely) benign	1 lab	76378618b6
1:22214060 HSPG2 C>T	1	22214060	22214060	C	T	HSPG2	c.811G>A	NM_005529.7	NP_005520.4:p.(Ala271Thr)	NC_000001.10:g.22214060C>T	VUS	1 lab	7854fc8dee
1:152277698 FLG C>G	1	152277698	152277698	C	G	FLG	c.9664G>C	NM_002016.2	NP_002007.1:p.(Glu3222Gln)	NC_000001.10:g.152277698C>G	(Likely) benign	1 lab	7639d050bf
13:103018968 FGF14 CAA>C	13	103018968	103018992	CAA	C	FGF14	c.-225+34851_-225+34852del	NM_001321938.2	NP_001308867.1:p.?	NC_000013.10:g.103018991_103018992del	(Likely) benign	1 lab	2344be49bd
14:21058683 RNASE12 A>C	14	21058683	21058683	A	C	RNASE12	c.200T>G	NM_001024822.4	NP_001019993.1:p.(Val67Gly)	NC_000014.8:g.21058683A>C	VUS	1 lab	763be26c34
10:70196949 DNA2 T>G	10	70196949	70196949	T	G	DNA2	c.1465A>C	NM_001080449.3	NP_001073918.2:p.(Lys489Gln)	NC_000010.10:g.70196949T>G	(Likely) benign	1 lab	763d21e1e8
12:52960776 KRT74 G>A	12	52960776	52960776	G	A	KRT74	c.1567C>T	NM_175053.4	NP_778223.2:p.(Pro523Ser)	NC_000012.11:g.52960776G>A	(Likely) benign	1 lab	763d34033a
7:128482326 FLNC C>A	7	128482326	128482326	C	A	FLNC	c.2163C>A	NM_001458.5	NP_001449.3:p.(Asn721Lys)	NC_000007.13:g.128482326C>A	(Likely) benign	1 lab	763f02ef31
9:136220784 SURF1 A>G	9	136220784	136220784	A	G	SURF1	c.335T>C	NM_003172.4	NP_003163.1:p.(Leu112Pro)	NC_000009.11:g.136220784A>G	VUS	1 lab	763f093406
7:103629740 RELN T>TCAGCGTCGCCCC	7	103629740	103629756	T	TCAGCGTCGCCCC	RELN	c.52_63dup	NM_005045.4	NP_005036.2:p.(Gly18_Leu21dup)	NC_000007.13:g.103629745_103629756dup	VUS	1 lab	763fa34a14
16:1265346 CACNA1H G>A	16	1265346	1265346	G	A	CACNA1H	c.5144G>A	NM_021098.3	NP_066921.2:p.(Arg1715His)	NC_000016.9:g.1265346G>A	(Likely) benign	1 lab	764021867c
2:73677658 ALMS1 C>T	2	73677658	73677658	C	T	ALMS1	c.4004C>T	NM_001378454.1	NP_001365383.1:p.(Ser1335Leu)	NC_000002.11:g.73677658C>T	(Likely) benign	1 lab	76404659fc
22:41572541 EP300 C>T	22	41572541	41572541	C	T	EP300	c.5061+9C>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41572541C>T	(Likely) benign	1 lab	7641a060fa
10:73501658 CDH23 G>C	10	73501658	73501658	G	C	CDH23	c.4825G>C	NM_022124.6	NP_071407.4:p.(Glu1609Gln)	NC_000010.10:g.73501658G>C	VUS	1 lab	76456b7241
11:73796902 C2CD3 T>C	11	73796902	73796902	T	C	C2CD3	c.3671A>G	NM_001286577.2	NP_001273506.1:p.(Gln1224Arg)	NC_000011.9:g.73796902T>C	(Likely) benign	1 lab	7645e66bbb
12:49420995 KMT2D A>AG	12	49420995	49421000	A	AG	KMT2D	c.14753dup	NM_003482.4	NP_003473.3:p.(Ser4919PhefsTer13)	NC_000012.11:g.49421000dup	(Likely) benign	1 lab	7647da23d6
16:20976134 DNAH3 C>T	16	20976134	20976134	C	T	DNAH3	c.8934G>A	NM_001347886.2	NP_001334815.1:p.(Trp2978Ter)	NC_000016.9:g.20976134C>T	VUS	1 lab	7648607910
19:5711774 LONP1 G>A	19	5711774	5711774	G	A	LONP1	c.870+8C>T	NM_004793.4	NP_004784.2:p.?	NC_000019.9:g.5711774G>A	(Likely) benign	1 lab	7648cd0daf
19:47646779 SAE1 G>A	19	47646779	47646779	G	A	SAE1	c.127G>A	NM_005500.3	NP_005491.1:p.(Gly43Ser)	NC_000019.9:g.47646779G>A	(Likely) benign	1 lab	764a3dfe4e
9:135947094 CEL T>C	9	135947094	135947094	T	C	CEL	c.2205T>C	NM_001807.6	NP_001798.3:p.(Pro735=)	NC_000009.11:g.135947094T>C	(Likely) benign	1 lab	764c350c49
5:132269985 AFF4 G>A	5	132269985	132269985	G	A	AFF4	c.772C>T	NM_014423.4	NP_055238.1:p.(Arg258Trp)	NC_000005.9:g.132269985G>A	(Likely) pathogenic	1 lab	764c7d8e77
9:101980412 ALG2 G>GTCA	9	101980412	101980413	G	GTCA	ALG2	c.1054_1055insTGA	NM_033087.4	NP_149078.1:p.(Ser352delinsLeuThr)	NC_000009.11:g.101980412_101980413insTCA	VUS	1 lab	764c9d10d9
2:216229655 FN1 G>C	2	216229655	216229655	G	C	FN1	c.7198C>G	NM_212482.4	NP_997647.2:p.(Gln2400Glu)	NC_000002.11:g.216229655G>C	(Likely) benign	1 lab	764d201c97
7:56006962 ZNF713 A>G	7	56006962	56006962	A	G	ZNF713	c.595A>G	NM_182633.3	NP_872439.2:p.(Arg199Gly)	NC_000007.13:g.56006962A>G	(Likely) benign	1 lab	764d242bb1
17:40631048 ATP6V0A1 C>T	17	40631048	40631048	C	T	ATP6V0A1	c.633+441C>T	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40631048C>T	(Likely) benign	1 lab	765104aa69
17:29679438 NF1 T>C	17	29679438	29679438	T	C	NF1	c.7615+6T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29679438T>C	VUS	1 lab	76511940d3
10:78761308 KCNMA1 C>T	10	78761308	78761308	C	T	KCNMA1	c.2123G>A	NM_001161352.2	NP_001154824.1:p.(Arg708Gln)	NC_000010.10:g.78761308C>T	VUS	1 lab	76523a02ce
19:18420592 LSM4 A>G	19	18420592	18420592	A	G	LSM4	c.224T>C	NM_012321.5	NP_036453.1:p.(Ile75Thr)	NC_000019.9:g.18420592A>G	VUS	1 lab	76da04ab64
4:122765150 BBS7 C>T	4	122765150	122765150	C	T	BBS7	c.1237G>A	NM_176824.3	NP_789794.1:p.(Val413Ile)	NC_000004.11:g.122765150C>T	VUS	1 lab	2346106edc
20:52675251 BCAS1 T>C	20	52675251	52675251	T	C	BCAS1	c.7A>G	NM_001366298.2	NP_001353227.1:p.(Asn3Asp)	NC_000020.10:g.52675251T>C	VUS	1 lab	7653a55bfd
2:178981107 RBM45 T>G	2	178981107	178981107	T	G	RBM45	c.419T>G	NM_152945.4	NP_694453.2:p.(Phe140Cys)	NC_000002.11:g.178981107T>G	VUS	1 lab	7653f61f79
19:39018329 RYR1 C>T	19	39018329	39018329	C	T	RYR1	c.10729C>T	NM_000540.3	NP_000531.2:p.(Arg3577Trp)	NC_000019.9:g.39018329C>T	VUS	1 lab	7654198256
9:136409680 ADAMTSL2 C>T	9	136409680	136409680	C	T	ADAMTSL2	c.763+8C>T	NM_014694.4	NP_055509.2:p.?	NC_000009.11:g.136409680C>T	VUS	1 lab	7657c06923
4:104067194 CENPE A>G	4	104067194	104067194	A	G	CENPE	c.4205T>C	NM_001813.3	NP_001804.2:p.(Ile1402Thr)	NC_000004.11:g.104067194A>G	VUS	1 lab	7657f89b9d
5:37206317 CPLANE1 C>T	5	37206317	37206317	C	T	CPLANE1	c.3131G>A	NM_001384732.1	NP_001371661.1:p.(Arg1044His)	NC_000005.9:g.37206317C>T	VUS	1 lab	765884d14b
17:40693077 NAGLU G>A	17	40693077	40693077	G	A	NAGLU	c.874G>A	NM_000263.4	NP_000254.2:p.(Gly292Arg)	NC_000017.10:g.40693077G>A	(Likely) pathogenic	1 lab	765a827c20
10:12162802 DHTKD1 G>T	10	12162802	12162802	G	T	DHTKD1	c.2675G>T	NM_018706.7	NP_061176.4:p.(Arg892Leu)	NC_000010.10:g.12162802G>T	VUS	1 lab	765be6da29
1:114438645 AP4B1 A>G	1	114438645	114438645	A	G	AP4B1	c.1526T>C	NM_001253852.3	NP_001240781.1:p.(Met509Thr)	NC_000001.10:g.114438645A>G	VUS	1 lab	765fe88da1
17:40958708 CNTD1 G>T	17	40958708	40958708	G	T	CNTD1	c.597G>T	NM_173478.3	NP_775749.2:p.(Leu199Phe)	NC_000017.10:g.40958708G>T	VUS	1 lab	7660a114e5
3:48921530 SLC25A20 C>G	3	48921530	48921530	C	G	SLC25A20	c.226G>C	NM_000387.6	NP_000378.1:p.(Ala76Pro)	NC_000003.11:g.48921530C>G	VUS	1 lab	76613572c4
2:242795062 PDCD1 G>A	2	242795062	242795062	G	A	PDCD1	c.147C>T	NM_005018.3	NP_005009.2:p.(Asn49=)	NC_000002.11:g.242795062G>A	VUS	1 lab	76637db41b
1:47716899 STIL G>T	1	47716899	47716899	G	T	STIL	c.3776C>A	NM_001048166.1	NP_001041631.1:p.(Pro1259His)	NC_000001.10:g.47716899G>T	VUS	1 lab	766416e1b5
17:36091623 HNF1B G>A	17	36091623	36091623	G	A	HNF1B	c.1008C>T	NM_000458.4	NP_000449.1:p.(His336=)	NC_000017.10:g.36091623G>A	(Likely) benign	1 lab	766494b8dd
2:39216410 SOS1 C>G	2	39216410	39216410	C	G	SOS1	c.3391+1G>C	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39216410C>G	VUS	1 lab	766555b4fd
X:79959085 BRWD3 C>G	X	79959085	79959085	C	G	BRWD3	c.2729G>C	NM_153252.5	NP_694984.5:p.(Gly910Ala)	NC_000023.10:g.79959085C>G	VUS	1 lab	7666d26638
9:131403221 DYNC2I2 G>T	9	131403221	131403221	G	T	DYNC2I2	c.187-3C>A	NM_052844.4	NP_443076.2:p.?	NC_000009.11:g.131403221G>T	(Likely) benign	1 lab	7667209bcb
17:40364212 STAT5B A>G	17	40364212	40364212	A	G	STAT5B	c.1474-4T>C	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40364212A>G	(Likely) benign	1 lab	76689902e2
9:99694050 NUTM2G CCTGT>C	9	99694050	99694058	CCTGT	C	NUTM2G	c.68_71del	NM_001170741.3	NP_001164212.1:p.(Ser23CysfsTer21)	NC_000009.11:g.99694055_99694058del	VUS	1 lab	766c9ed7ec
12:51065113 DIP2B C>T	12	51065113	51065113	C	T	DIP2B	c.572C>T	NM_173602.3	NP_775873.2:p.(Thr191Met)	NC_000012.11:g.51065113C>T	VUS	1 lab	766cbd3237
7:92027808 ANKIB1 T>G	7	92027808	92027808	T	G	ANKIB1	c.2815T>G	NM_019004.2	NP_061877.1:p.(Ser939Ala)	NC_000007.13:g.92027808T>G	VUS	1 lab	766dccc4b4
5:126141368 LMNB1 C>T	5	126141368	126141368	C	T	LMNB1	c.622C>T	NM_005573.4	NP_005564.1:p.(Arg208Cys)	NC_000005.9:g.126141368C>T	VUS	1 lab	7670c77517
15:102358794 OR4F15 C>G	15	102358794	102358794	C	G	OR4F15	c.405C>G	NM_001001674.2	NP_001001674.1:p.(Ile135Met)	NC_000015.9:g.102358794C>G	VUS	1 lab	76769f32cf
10:98770783 SLIT1 T>C	10	98770783	98770783	T	C	SLIT1	c.3308A>G	NM_003061.3	NP_003052.2:p.(Asn1103Ser)	NC_000010.10:g.98770783T>C	(Likely) benign	1 lab	7678585985
5:94853013 SKIC3 G>A	5	94853013	94853013	G	A	SKIC3	c.2128C>T	NM_014639.4	NP_055454.1:p.(Arg710Ter)	NC_000005.9:g.94853013G>A	(Likely) pathogenic	1 lab	767b10591c
8:141568227 AGO2 C>T	8	141568227	141568227	C	T	AGO2	c.878+357G>A	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141568227C>T	(Likely) benign	1 lab	767b1284e9
19:42799314 CIC G>C	19	42799314	42799314	G	C	CIC	c.7525G>C	NM_001386298.1	NP_001373227.1:p.(Gly2509Arg)	NC_000019.9:g.42799314G>C	VUS	1 lab	767d653c5b
16:27752134 KATNIP A>G	16	27752134	27752134	A	G	KATNIP	c.2516A>G	NM_015202.5	NP_056017.4:p.(Asp839Gly)	NC_000016.9:g.27752134A>G	(Likely) benign	1 lab	767f0d0524
10:114925618 TCF7L2 G>A	10	114925618	114925618	G	A	TCF7L2	c.1747G>A	NM_001367943.1	NP_001354872.1:p.(Ala583Thr)	NC_000010.10:g.114925618G>A	(Likely) benign	1 lab	767f4a0136
5:137753279 KDM3B G>A	5	137753279	137753279	G	A	KDM3B	c.3415G>A	NM_016604.4	NP_057688.3:p.(Val1139Ile)	NC_000005.9:g.137753279G>A	(Likely) benign	1 lab	76805a2f66
17:40369177 STAT5B C>A	17	40369177	40369177	C	A	STAT5B	c.1380+1G>T	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40369177C>A	(Likely) pathogenic	1 lab	768f46ed59
2:157332717 GPD2 CAAGT>C	2	157332717	157332727	CAAGT	C	GPD2	c.102+5_102+8del	NM_000408.5	NP_000399.3:p.?	NC_000002.11:g.157332724_157332727del	VUS	1 lab	7681713d71
2:72374860 CYP26B1 A>C	2	72374860	72374860	A	C	CYP26B1	c.104T>G	NM_019885.4	NP_063938.1:p.(Leu35Arg)	NC_000002.11:g.72374860A>C	VUS	1 lab	768281c30a
15:89399929 ACAN C>G	15	89399929	89399929	C	G	ACAN	c.4113C>G	NM_001369268.1	NP_001356197.1:p.(Asp1371Glu)	NC_000015.9:g.89399929C>G	VUS	1 lab	7683883db8
14:58730470 PSMA3 G>A	14	58730470	58730470	G	A	PSMA3	c.525G>A	NM_002788.4	NP_002779.1:p.(Thr175=)	NC_000014.8:g.58730470G>A	(Likely) benign	1 lab	234aa51b71
2:136023103 ZRANB3 C>T	2	136023103	136023103	C	T	ZRANB3	c.1539+1G>A	NM_032143.4	NP_115519.2:p.?	NC_000002.11:g.136023103C>T	VUS	1 lab	7685545bd4
9:95237024 CENPP C>CTCA	9	95237024	95237068	C	CTCA	CENPP	c.564+94925_564+94927dup	NM_001012267.3	NP_001012267.1:p.?	NC_000009.11:g.95237066_95237068dup	VUS	1 lab	7685620248
20:33586174 MYH7B G>A	20	33586174	33586174	G	A	MYH7B	c.3824G>A	NM_020884.7	NP_065935.4:p.(Arg1275Gln)	NC_000020.10:g.33586174G>A	VUS	1 lab	7686c57c9b
19:10252751 DNMT1 C>T	19	10252751	10252751	C	T	DNMT1	c.3262G>A	NM_001130823.3	NP_001124295.1:p.(Val1088Ile)	NC_000019.9:g.10252751C>T	(Likely) benign	1 lab	768765b4b8
12:49434910 KMT2D A>T	12	49434910	49434910	A	T	KMT2D	c.6643T>A	NM_003482.4	NP_003473.3:p.(Ser2215Thr)	NC_000012.11:g.49434910A>T	(Likely) benign	1 lab	7688fc8d83
10:12154900 DHTKD1 T>C	10	12154900	12154900	T	C	DHTKD1	c.2156T>C	NM_018706.7	NP_061176.4:p.(Met719Thr)	NC_000010.10:g.12154900T>C	VUS	1 lab	768a41be65
1:22149986 LDLRAD2 C>T	1	22149986	22149986	C	T	LDLRAD2	c.*1278C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149986C>T	VUS	1 lab	768c445b90
11:3838667 PGAP2 GT>G	11	3838667	3838668	GT	G	PGAP2	c.251del	NM_014489.4	NP_055304.1:p.(Val84AlafsTer41)	NC_000011.9:g.3838668del	VUS	1 lab	768d0af159
5:137897409 HSPA9 G>A	5	137897409	137897409	G	A	HSPA9	c.1042C>T	NM_004134.7	NP_004125.3:p.(Arg348Cys)	NC_000005.9:g.137897409G>A	VUS	1 lab	768e559453
1:35657986 SFPQ G>T	1	35657986	35657986	G	T	SFPQ	c.665C>A	NM_005066.3	NP_005057.1:p.(Pro222Gln)	NC_000001.10:g.35657986G>T	(Likely) benign	1 lab	768eaf23bb
17:28407224 EFCAB5 G>A	17	28407224	28407224	G	A	EFCAB5	c.3162G>A	NM_198529.4	NP_940931.3:p.(Leu1054=)	NC_000017.10:g.28407224G>A	VUS	1 lab	768eb27768
20:3065203 AVP G>C	20	3065203	3065203	G	C	AVP	c.118C>G	NM_000490.5	NP_000481.2:p.(Gln40Glu)	NC_000020.10:g.3065203G>C	VUS	1 lab	768f058d15
17:71391453 SDK2 C>T	17	71391453	71391453	C	T	SDK2	c.3433G>A	NM_001144952.2	NP_001138424.1:p.(Gly1145Ser)	NC_000017.10:g.71391453C>T	(Likely) benign	1 lab	76939b8879
11:58920260 FAM111A T>G	11	58920260	58920260	T	G	FAM111A	c.1119T>G	NM_001312909.2	NP_001299838.1:p.(Phe373Leu)	NC_000011.9:g.58920260T>G	VUS	1 lab	7696277c8f
3:57994465 FLNB C>G	3	57994465	57994465	C	G	FLNB	c.174C>G	NM_001457.4	NP_001448.2:p.(Ser58Arg)	NC_000003.11:g.57994465C>G	(Likely) benign	1 lab	7696d67cd4
11:298637 IFITM5 A>G	11	298637	298637	A	G	IFITM5	c.263T>C	NM_001025295.3	NP_001020466.1:p.(Leu88Pro)	NC_000011.9:g.298637A>G	VUS	1 lab	76970a04c8
3:140397371 TRIM42 C>CCACA	3	140397371	140397372	C	CCACA	TRIM42	c.300_301insCACA	NM_152616.5	NP_689829.3:p.(Ile101HisfsTer31)	NC_000003.11:g.140397371_140397372insCACA	VUS	1 lab	76976d3d01
3:118906791 UPK1B T>A	3	118906791	118906791	T	A	UPK1B	c.239T>A	NM_006952.4	NP_008883.2:p.(Ile80Asn)	NC_000003.11:g.118906791T>A	VUS	1 lab	7698218f65
4:74008443 ANKRD17 C>T	4	74008443	74008443	C	T	ANKRD17	c.1999G>A	NM_032217.5	NP_115593.3:p.(Val667Ile)	NC_000004.11:g.74008443C>T	VUS	1 lab	769899c3e3
2:136670049 DARS1 T>C	2	136670049	136670049	T	C	DARS1	c.1230+7A>G	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136670049T>C	(Likely) benign	1 lab	7698b0526a
16:774431 CCDC78 G>A	16	774431	774431	G	A	CCDC78	c.844C>T	NM_001378030.1	NP_001364959.1:p.(Arg282Trp)	NC_000016.9:g.774431G>A	(Likely) benign	1 lab	7698b0b1f5
X:103294590 H2BW2 C>T	X	103294590	103294590	C	T	H2BW2	c.29C>T	NM_001388464.1	NP_001375393.1:p.(Ser10Leu)	NC_000023.10:g.103294590C>T	(Likely) benign	1 lab	769cfbd73b
15:34542870 SLC12A6 A>G	15	34542870	34542870	A	G	SLC12A6	c.1553T>C	NM_001365088.1	NP_001352017.1:p.(Ile518Thr)	NC_000015.9:g.34542870A>G	VUS	1 lab	769d173b9a
6:31762624 VARS1 G>A	6	31762624	31762624	G	A	VARS1	c.371C>T	NM_006295.3	NP_006286.1:p.(Ser124Leu)	NC_000006.11:g.31762624G>A	(Likely) benign	1 lab	769e28bb95
11:61106765 TKFC G>A	11	61106765	61106765	G	A	TKFC	c.344G>A	NM_015533.4	NP_056348.2:p.(Arg115Gln)	NC_000011.9:g.61106765G>A	(Likely) benign	1 lab	769f7ce179
11:76886442 MYO7A C>A	11	76886442	76886442	C	A	MYO7A	c.2119C>A	NM_000260.4	NP_000251.3:p.(Arg707Ser)	NC_000011.9:g.76886442C>A	(Likely) benign	1 lab	769fb53024
22:41521905 EP300 C>T	22	41521905	41521905	C	T	EP300	c.767C>T	NM_001429.4	NP_001420.2:p.(Pro256Leu)	NC_000022.10:g.41521905C>T	(Likely) benign	1 lab	76a06cfb96
X:86067863 DACH2 G>C	X	86067863	86067863	G	C	DACH2	c.1245G>C	NM_053281.3	NP_444511.1:p.(Glu415Asp)	NC_000023.10:g.86067863G>C	VUS	1 lab	76a1881562
5:153065789 GRIA1 G>T	5	153065789	153065789	G	T	GRIA1	c.1034G>T	NM_000827.4	NP_000818.2:p.(Arg345Leu)	NC_000005.9:g.153065789G>T	(Likely) benign	1 lab	76a30fa95f
7:104716517 KMT2E T>A	7	104716517	104716517	T	A	KMT2E	c.757T>A	NM_182931.3	NP_891847.1:p.(Ser253Thr)	NC_000007.13:g.104716517T>A	VUS	1 lab	76a36a4bd4
2:20166598 WDR35 A>G	2	20166598	20166598	A	G	WDR35	c.1081T>C	NM_020779.4	NP_065830.2:p.(Trp361Arg)	NC_000002.11:g.20166598A>G	VUS	1 lab	76a51db9b7
19:7122895 INSR C>T	19	7122895	7122895	C	T	INSR	c.3364G>A	NM_000208.4	NP_000199.2:p.(Ala1122Thr)	NC_000019.9:g.7122895C>T	VUS	1 lab	76a54b331a
1:176668542 PAPPA2 C>T	1	176668542	176668542	C	T	PAPPA2	c.3053C>T	NM_020318.3	NP_064714.2:p.(Ser1018Leu)	NC_000001.10:g.176668542C>T	(Likely) benign	1 lab	76a75f0bb1
11:34478267 CAT G>A	11	34478267	34478267	G	A	CAT	c.959G>A	NM_001752.4	NP_001743.1:p.(Arg320Gln)	NC_000011.9:g.34478267G>A	VUS	1 lab	76a7897d7c
14:24631432 IRF9 G>A	14	24631432	24631432	G	A	IRF9	c.79G>A	NM_006084.5	NP_006075.3:p.(Gly27Arg)	NC_000014.8:g.24631432G>A	VUS	1 lab	76a7c2063a
11:2906110 CDKN1C G>C	11	2906110	2906110	G	C	CDKN1C	c.577C>G	NM_001122630.2	NP_001116102.1:p.(Pro193Ala)	NC_000011.9:g.2906110G>C	(Likely) benign	1 lab	76a7d256de
13:39587409 PROSER1 C>A	13	39587409	39587409	C	A	PROSER1	c.1980G>T	NM_025138.5	NP_079414.3:p.(Leu660Phe)	NC_000013.10:g.39587409C>A	(Likely) benign	1 lab	76a7f31a79
19:46272060 SIX5 C>T	19	46272060	46272060	C	T	SIX5	c.43G>A	NM_175875.5	NP_787071.3:p.(Gly15Arg)	NC_000019.9:g.46272060C>T	(Likely) benign	1 lab	76a808c8b9
16:2161119 PKD1 G>A	16	2161119	2161119	G	A	PKD1	c.4049C>T	NM_001009944.3	NP_001009944.3:p.(Thr1350Met)	NC_000016.9:g.2161119G>A	VUS	1 lab	76a89f7942
1:7798280 CAMTA1 C>G	1	7798280	7798280	C	G	CAMTA1	c.3920C>G	NM_015215.4	NP_056030.1:p.(Thr1307Ser)	NC_000001.10:g.7798280C>G	(Likely) benign	1 lab	76a8dfd050
20:43048342 HNF4A T>A	20	43048342	43048342	T	A	HNF4A	c.737-19T>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43048342T>A	(Likely) benign	1 lab	76a9d87ecd
12:56090811 ITGA7 G>A	12	56090811	56090811	G	A	ITGA7	c.1609C>T	NM_002206.3	NP_002197.2:p.(Arg537Trp)	NC_000012.11:g.56090811G>A	(Likely) benign	1 lab	76ac3c8a46
11:13514399 PTH T>C	11	13514399	13514399	T	C	PTH	c.4A>G	NM_000315.4	NP_000306.1:p.(Ile2Val)	NC_000011.9:g.13514399T>C	(Likely) benign	1 lab	76ae050d50
19:46915091 CCDC8 T>C	19	46915091	46915091	T	C	CCDC8	c.977A>G	NM_032040.5	NP_114429.2:p.(Asp326Gly)	NC_000019.9:g.46915091T>C	(Likely) benign	1 lab	76afd688a9
7:94056566 COL1A2 C>A	7	94056566	94056566	C	A	COL1A2	c.3226C>A	NM_000089.4	NP_000080.2:p.(Pro1076Thr)	NC_000007.13:g.94056566C>A	VUS	1 lab	76b0146a77
6:132203791 ENPP1 T>A	6	132203791	132203791	T	A	ENPP1	c.2230+177T>A	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132203791T>A	(Likely) benign	1 lab	76b055f9b9
16:23646556 PALB2 T>C	16	23646556	23646556	T	C	PALB2	c.1311A>G	NM_024675.4	NP_078951.2:p.(Lys437=)	NC_000016.9:g.23646556T>C	(Likely) benign	1 lab	76b4fb0c60
X:139174602 HAPSTR2 C>T	X	139174602	139174602	C	T	HAPSTR2	c.701C>T	NM_001271560.3	NP_001258489.1:p.(Pro234Leu)	NC_000023.10:g.139174602C>T	VUS	1 lab	76b70b5b26
6:131937150 MED23 G>T	6	131937150	131937150	G	T	MED23	c.781-8C>A	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131937150G>T	VUS	1 lab	76b7b00f50
14:39509974 SEC23A T>C	14	39509974	39509974	T	C	SEC23A	c.2104A>G	NM_006364.4	NP_006355.2:p.(Met702Val)	NC_000014.8:g.39509974T>C	VUS	1 lab	76b9f321f8
19:13186769 NFIX C>T	19	13186769	13186769	C	T	NFIX	c.955+284C>T	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13186769C>T	(Likely) benign	1 lab	76bac8552d
3:123019001 ADCY5 C>T	3	123019001	123019001	C	T	ADCY5	c.2866G>A	NM_183357.3	NP_899200.1:p.(Asp956Asn)	NC_000003.11:g.123019001C>T	VUS	1 lab	76bb50b212
17:62020273 SCN4A C>T	17	62020273	62020273	C	T	SCN4A	c.4201G>A	NM_000334.4	NP_000325.4:p.(Val1401Met)	NC_000017.10:g.62020273C>T	VUS	1 lab	76bc2aca7d
2:26696444 OTOF G>C	2	26696444	26696444	G	C	OTOF	c.3409-9C>G	NM_194248.3	NP_919224.1:p.?	NC_000002.11:g.26696444G>C	(Likely) benign	1 lab	76bc343174
9:35066817 VCP G>A	9	35066817	35066817	G	A	VCP	c.303-3C>T	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35066817G>A	(Likely) benign	1 lab	76bc8690a6
13:101936301 NALCN C>T	13	101936301	101936301	C	T	NALCN	c.1117G>A	NM_052867.4	NP_443099.1:p.(Ala373Thr)	NC_000013.10:g.101936301C>T	VUS	1 lab	76c0a28e87
21:47549283 COL6A2 G>A	21	47549283	47549283	G	A	COL6A2	c.2462-2585G>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549283G>A	(Likely) benign	1 lab	76c1e1fc89
1:152284549 FLG G>C	1	152284549	152284549	G	C	FLG	c.2813C>G	NM_002016.2	NP_002007.1:p.(Thr938Arg)	NC_000001.10:g.152284549G>C	(Likely) benign	1 lab	76c2228ea6
8:27633867 ESCO2 TTC>T	8	27633867	27633870	TTC	T	ESCO2	c.54-10_54-9del	NM_001017420.3	NP_001017420.1:p.?	NC_000008.10:g.27633869_27633870del	(Likely) benign	1 lab	76c2681ce2
7:5413782 TNRC18 T>C	7	5413782	5413782	T	C	TNRC18	c.3133A>G	NM_001080495.3	NP_001073964.2:p.(Ile1045Val)	NC_000007.13:g.5413782T>C	VUS	1 lab	76c35c7f02
8:101253117 SPAG1 A>T	8	101253117	101253117	A	T	SPAG1	c.2650-2A>T	NM_003114.5	NP_003105.2:p.?	NC_000008.10:g.101253117A>T	(Likely) benign	1 lab	76c383104e
3:136045996 PCCB G>A	3	136045996	136045996	G	A	PCCB	c.1199-1G>A	NM_000532.5	NP_000523.2:p.?	NC_000003.11:g.136045996G>A	VUS	1 lab	76c3d2f609
1:3747684 CEP104 T>C	1	3747684	3747684	T	C	CEP104	c.1762A>G	NM_014704.4	NP_055519.1:p.(Met588Val)	NC_000001.10:g.3747684T>C	VUS	1 lab	76c7fb626e
17:73500519 CASKIN2 G>A	17	73500519	73500519	G	A	CASKIN2	c.1357C>T	NM_020753.5	NP_065804.2:p.(His453Tyr)	NC_000017.10:g.73500519G>A	(Likely) benign	1 lab	76c85d73de
11:6653807 DCHS1 G>T	11	6653807	6653807	G	T	DCHS1	c.2936C>A	NM_003737.4	NP_003728.1:p.(Thr979Asn)	NC_000011.9:g.6653807G>T	VUS	1 lab	76c9801d78
16:3641320 SLX4 C>A	16	3641320	3641320	C	A	SLX4	c.2328-9G>T	NM_032444.4	NP_115820.2:p.?	NC_000016.9:g.3641320C>A	(Likely) benign	1 lab	76cb40a4f5
22:37964730 CDC42EP1 C>T	22	37964730	37964730	C	T	CDC42EP1	c.1079C>T	NM_152243.3	NP_689449.1:p.(Ala360Val)	NC_000022.10:g.37964730C>T	VUS	1 lab	76ccb08f55
7:87780346 ADAM22 G>A	7	87780346	87780346	G	A	ADAM22	c.1617G>A	NM_001324418.2	NP_001311347.1:p.(Gln539=)	NC_000007.13:g.87780346G>A	(Likely) benign	1 lab	76cdaea32b
1:62299385 PATJ G>A	1	62299385	62299385	G	A	PATJ	c.2040G>A	NM_001350145.3	NP_001337074.2:p.(Trp680Ter)	NC_000001.10:g.62299385G>A	VUS	1 lab	76ce78cbab
17:48268262 COL1A1 A>G	17	48268262	48268262	A	G	COL1A1	c.2259T>C	NM_000088.4	NP_000079.2:p.(Ala753=)	NC_000017.10:g.48268262A>G	(Likely) benign	1 lab	76cf6e710b
17:17696977 RAI1 T>A	17	17696977	17696977	T	A	RAI1	c.715T>A	NM_030665.4	NP_109590.3:p.(Cys239Ser)	NC_000017.10:g.17696977T>A	(Likely) benign	1 lab	76d1ef966a
15:23892381 MAGEL2 G>A	15	23892381	23892381	G	A	MAGEL2	c.509C>T	NM_019066.5	NP_061939.3:p.(Ala170Val)	NC_000015.9:g.23892381G>A	VUS	1 lab	76d299248c
4:6304111 WFS1 C>G	4	6304111	6304111	C	G	WFS1	c.2589C>G	NM_006005.3	NP_005996.2:p.(Ile863Met)	NC_000004.11:g.6304111C>G	VUS	1 lab	76d3fad5b6
4:37841749 PGM2 T>C	4	37841749	37841749	T	C	PGM2	c.587T>C	NM_018290.4	NP_060760.2:p.(Ile196Thr)	NC_000004.11:g.37841749T>C	VUS	1 lab	76d4117df6
1:228404997 OBSCN C>T	1	228404997	228404997	C	T	OBSCN	c.2653+8C>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228404997C>T	(Likely) benign	1 lab	76d456bb6c
19:38996982 RYR1 G>A	19	38996982	38996982	G	A	RYR1	c.8581G>A	NM_000540.3	NP_000531.2:p.(Asp2861Asn)	NC_000019.9:g.38996982G>A	VUS	1 lab	76d571592a
3:138099398 MRAS C>T	3	138099398	138099398	C	T	MRAS	c.193+7480C>T	NM_001085049.3	NP_001078518.1:p.?	NC_000003.11:g.138099398C>T	(Likely) benign	1 lab	76d5a540c7
13:94197611 GPC6 C>T	13	94197611	94197611	C	T	GPC6	c.256C>T	NM_005708.5	NP_005699.1:p.(Leu86Phe)	NC_000013.10:g.94197611C>T	(Likely) benign	1 lab	76d6a71737
11:44129716 EXT2 CTGTT>C	11	44129716	44129724	CTGTT	C	EXT2	c.459_462del	NM_207122.2	NP_997005.1:p.(Val154ProfsTer115)	NC_000011.9:g.44129721_44129724del	(Likely) pathogenic	1 lab	76d6e35926
16:2166846 PKD1 G>C	16	2166846	2166846	G	C	PKD1	c.1594C>G	NM_001009944.3	NP_001009944.3:p.(Leu532Val)	NC_000016.9:g.2166846G>C	VUS	1 lab	76d7ef9c78
4:6864716 KIAA0232 G>C	4	6864716	6864716	G	C	KIAA0232	c.2607G>C	NM_014743.3	NP_055558.2:p.(Glu869Asp)	NC_000004.11:g.6864716G>C	VUS	1 lab	76d7f3623a
X:7175335 STS C>G	X	7175335	7175335	C	G	STS	c.190C>G	NM_001320752.2	NP_001307681.2:p.(Leu64Val)	NC_000023.10:g.7175335C>G	VUS	1 lab	76fa0d9e89
13:46541811 ZC3H13 T>A	13	46541811	46541811	T	A	ZC3H13	c.4149A>T	NM_001330564.2	NP_001317493.1:p.(Gln1383His)	NC_000013.10:g.46541811T>A	VUS	1 lab	76d99b49d7
21:34940853 SON A>AC	21	34940853	34940854	A	AC	SON	c.6769-423dup	NM_138927.4	NP_620305.3:p.?	NC_000021.8:g.34940854dup	(Likely) benign	1 lab	76dab54cde
1:982027 AGRN G>A	1	982027	982027	G	A	AGRN	c.3162G>A	NM_198576.4	NP_940978.2:p.(Ala1054=)	NC_000001.10:g.982027G>A	(Likely) benign	1 lab	76dde4806d
10:70179634 DNA2 G>T	10	70179634	70179634	G	T	DNA2	c.2713C>A	NM_001080449.3	NP_001073918.2:p.(Gln905Lys)	NC_000010.10:g.70179634G>T	(Likely) benign	1 lab	76dfac7196
4:39462537 LIAS C>T	4	39462537	39462537	C	T	LIAS	c.173C>T	NM_006859.4	NP_006850.2:p.(Thr58Ile)	NC_000004.11:g.39462537C>T	VUS	1 lab	7768ca71b5
7:66410004 TMEM248 G>C	7	66410004	66410004	G	C	TMEM248	c.201G>C	NM_017994.5	NP_060464.1:p.(Leu67Phe)	NC_000007.13:g.66410004G>C	(Likely) benign	1 lab	76e04cdb1a
3:123428650 MYLK A>G	3	123428650	123428650	A	G	MYLK	c.1895T>C	NM_053025.4	NP_444253.3:p.(Leu632Pro)	NC_000003.11:g.123428650A>G	VUS	1 lab	76e57bfbf5
5:149580666 SLC6A7 G>A	5	149580666	149580666	G	A	SLC6A7	c.738G>A	NM_014228.5	NP_055043.2:p.(Thr246=)	NC_000005.9:g.149580666G>A	(Likely) benign	1 lab	76e69e1023
19:47912480 MEIS3 G>A	19	47912480	47912480	G	A	MEIS3	c.734C>T	NM_001301059.2	NP_001287988.1:p.(Ala245Val)	NC_000019.9:g.47912480G>A	VUS	1 lab	76e705116b
17:44626827 LRRC37A2 C>G	17	44626827	44626827	C	G	LRRC37A2	c.4322C>G	NM_001006607.3	NP_001006608.2:p.(Thr1441Ser)	NC_000017.10:g.44626827C>G	VUS	1 lab	76e79ad9a9
17:42330648 SLC4A1 C>T	17	42330648	42330648	C	T	SLC4A1	c.2149G>A	NM_000342.4	NP_000333.1:p.(Ala717Thr)	NC_000017.10:g.42330648C>T	(Likely) benign	1 lab	76e8264138
17:56383748 TSPOAP1 C>G	17	56383748	56383748	C	G	TSPOAP1	c.5179G>C	NM_004758.4	NP_004749.2:p.(Ala1727Pro)	NC_000017.10:g.56383748C>G	VUS	1 lab	76e9d778bf
12:2788680 CACNA1C C>G	12	2788680	2788680	C	G	CACNA1C	c.5162C>G	NM_000719.7	NP_000710.5:p.(Thr1721Ser)	NC_000012.11:g.2788680C>G	VUS	1 lab	76eb1dc248
5:36035951 UGT3A2 T>C	5	36035951	36035951	T	C	UGT3A2	c.1421A>G	NM_174914.4	NP_777574.2:p.(Tyr474Cys)	NC_000005.9:g.36035951T>C	(Likely) benign	1 lab	76ebe590de
4:144466008 SMARCA5 G>C	4	144466008	144466008	G	C	SMARCA5	c.2283+8G>C	NM_003601.4	NP_003592.3:p.?	NC_000004.11:g.144466008G>C	(Likely) benign	1 lab	76ec65505a
10:97620260 ENTPD1 T>A	10	97620260	97620260	T	A	ENTPD1	c.1109T>A	NM_001776.6	NP_001767.3:p.(Leu370Ter)	NC_000010.10:g.97620260T>A	(Likely) pathogenic	1 lab	76ee708be7
19:18980927 GDF1 G>A	19	18980927	18980927	G	A	GDF1	c.190C>T	NM_001492.6	NP_001483.3:p.(Arg64Cys)	NC_000019.9:g.18980927G>A	VUS	1 lab	76ee8a949f
15:78786488 IREB2 A>T	15	78786488	78786488	A	T	IREB2	c.2477A>T	NM_004136.4	NP_004127.2:p.(Asp826Val)	NC_000015.9:g.78786488A>T	VUS	1 lab	76f000d678
2:48718209 PPP1R21 A>G	2	48718209	48718209	A	G	PPP1R21	c.1499A>G	NM_001135629.3	NP_001129101.1:p.(Tyr500Cys)	NC_000002.11:g.48718209A>G	(Likely) benign	1 lab	76f02ea655
9:94519543 ROR2 G>T	9	94519543	94519543	G	T	ROR2	c.463+11C>A	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94519543G>T	(Likely) benign	1 lab	249e4e54b3
4:88989083 PKD2 C>T	4	88989083	88989083	C	T	PKD2	c.2392C>T	NM_000297.4	NP_000288.1:p.(Arg798Cys)	NC_000004.11:g.88989083C>T	VUS	1 lab	76f1d0107e
10:82036194 MAT1A G>T	10	82036194	82036194	G	T	MAT1A	c.706C>A	NM_000429.3	NP_000420.1:p.(Leu236Met)	NC_000010.10:g.82036194G>T	VUS	1 lab	76f2658c38
16:9010417 USP7 T>C	16	9010417	9010417	T	C	USP7	c.852-4A>G	NM_003470.3	NP_003461.2:p.?	NC_000016.9:g.9010417T>C	VUS	1 lab	76f27201b1
1:241680610 FH G>A	1	241680610	241680610	G	A	FH	c.139C>T	NM_000143.4	NP_000134.2:p.(Gln47Ter)	NC_000001.10:g.241680610G>A	(Likely) pathogenic	1 lab	76f2d1bbbf
17:40273043 KAT2A C>A	17	40273043	40273043	C	A	KAT2A	c.280G>T	NM_021078.3	NP_066564.2:p.(Val94Phe)	NC_000017.10:g.40273043C>A	VUS	1 lab	76f69f7bd7
2:48722891 PPP1R21 G>A	2	48722891	48722891	G	A	PPP1R21	c.1673G>A	NM_001135629.3	NP_001129101.1:p.(Arg558Gln)	NC_000002.11:g.48722891G>A	VUS	1 lab	76f91ce337
19:5223189 PTPRS G>A	19	5223189	5223189	G	A	PTPRS	c.2614C>T	NM_002850.4	NP_002841.3:p.(Arg872Cys)	NC_000019.9:g.5223189G>A	VUS	1 lab	76fbfda280
2:38302361 CYP1B1 C>T	2	38302361	38302361	C	T	CYP1B1	c.171G>A	NM_000104.4	NP_000095.2:p.(Trp57Ter)	NC_000002.11:g.38302361C>T	(Likely) pathogenic	1 lab	76fcbbc448
10:75576508 CAMK2G C>T	10	75576508	75576508	C	T	CAMK2G	c.1534+273G>A	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75576508C>T	(Likely) benign	1 lab	76fcde4997
20:34021955 GDF5 C>T	20	34021955	34021955	C	T	GDF5	c.1258G>A	NM_000557.5	NP_000548.2:p.(Ala420Thr)	NC_000020.10:g.34021955C>T	VUS	1 lab	76fd17beb0
6:129514008 LAMA2 C>T	6	129514008	129514008	C	T	LAMA2	c.1782+10C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129514008C>T	(Likely) benign	1 lab	76fe11dcaf
10:71695147 COL13A1 G>A	10	71695147	71695147	G	A	COL13A1	c.1770G>A	NM_001368882.1	NP_001355811.1:p.(Pro590=)	NC_000010.10:g.71695147G>A	(Likely) benign	1 lab	76ff31c753
17:73515068 TSEN54 C>T	17	73515068	73515068	C	T	TSEN54	c.469-8C>T	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73515068C>T	(Likely) benign	1 lab	76ff5f956b
19:42848620 MEGF8 G>C	19	42848620	42848620	G	C	MEGF8	c.1816G>C	NM_001271938.2	NP_001258867.1:p.(Gly606Arg)	NC_000019.9:g.42848620G>C	VUS	1 lab	770046bbc0
12:6666698 NOP2 G>C	12	6666698	6666698	G	C	NOP2	c.1900C>G	NM_001258308.2	NP_001245237.1:p.(Gln634Glu)	NC_000012.11:g.6666698G>C	VUS	1 lab	7700581f15
20:60911471 LAMA5 C>T	20	60911471	60911471	C	T	LAMA5	c.2248G>A	NM_005560.6	NP_005551.3:p.(Val750Met)	NC_000020.10:g.60911471C>T	VUS	1 lab	770184a224
3:48456434 PLXNB1 T>C	3	48456434	48456434	T	C	PLXNB1	c.3983A>G	NM_001130082.3	NP_001123554.1:p.(His1328Arg)	NC_000003.11:g.48456434T>C	VUS	1 lab	770188e82b
8:108913360 RSPO2 T>TATCA	8	108913360	108913364	T	TATCA	RSPO2	c.671_674dup	NM_178565.5	NP_848660.3:p.(Glu226AspfsTer18)	NC_000008.10:g.108913361_108913364dup	VUS	1 lab	77019d0f8d
15:100871166 ADAMTS17 G>C	15	100871166	100871166	G	C	ADAMTS17	c.544C>G	NM_139057.4	NP_620688.2:p.(Arg182Gly)	NC_000015.9:g.100871166G>C	VUS	1 lab	7702debe51
16:57492176 COQ9 C>G	16	57492176	57492176	C	G	COQ9	c.625C>G	NM_020312.4	NP_064708.1:p.(Leu209Val)	NC_000016.9:g.57492176C>G	(Likely) benign	1 lab	365f203dac
14:92499569 TRIP11 T>A	14	92499569	92499569	T	A	TRIP11	c.168A>T	NM_004239.4	NP_004230.2:p.(Glu56Asp)	NC_000014.8:g.92499569T>A	VUS	1 lab	7703da6cec
3:142272762 ATR T>C	3	142272762	142272762	T	C	ATR	c.2437A>G	NM_001184.4	NP_001175.2:p.(Met813Val)	NC_000003.11:g.142272762T>C	(Likely) benign	1 lab	770659de92
7:151949068 KMT2C C>T	7	151949068	151949068	C	T	KMT2C	c.1577G>A	NM_170606.3	NP_733751.2:p.(Arg526His)	NC_000007.13:g.151949068C>T	VUS	1 lab	7706c2d5e6
11:44193169 EXT2 G>A	11	44193169	44193169	G	A	EXT2	c.1182G>A	NM_207122.2	NP_997005.1:p.(Trp394Ter)	NC_000011.9:g.44193169G>A	(Likely) pathogenic	1 lab	7706f74618
X:49082898 CACNA1F CCCT>C	X	49082898	49082908	CCCT	C	CACNA1F	c.1433_1435del	NM_001256789.3	NP_001243718.1:p.(Glu478del)	NC_000023.10:g.49082906_49082908del	VUS	1 lab	770aa2c6a0
1:226032241 EPHX1 C>T	1	226032241	226032241	C	T	EPHX1	c.1083C>T	NM_001136018.4	NP_001129490.1:p.(Tyr361=)	NC_000001.10:g.226032241C>T	(Likely) benign	1 lab	770ad6fbed
1:8378194 SLC45A1 C>T	1	8378194	8378194	C	T	SLC45A1	c.-77C>T	NM_001080397.3	NP_001073866.3:p.?	NC_000001.10:g.8378194C>T	(Likely) benign	1 lab	770c89a186
6:152652285 SYNE1 C>G	6	152652285	152652285	C	G	SYNE1	c.13535G>C	NM_182961.4	NP_892006.3:p.(Gly4512Ala)	NC_000006.11:g.152652285C>G	VUS	1 lab	770de1d487
20:50307342 ATP9A C>T	20	50307342	50307342	C	T	ATP9A	c.659G>A	NM_006045.3	NP_006036.1:p.(Arg220Gln)	NC_000020.10:g.50307342C>T	VUS	1 lab	770ffc3389
5:94872746 SKIC3 C>T	5	94872746	94872746	C	T	SKIC3	c.642+1G>A	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94872746C>T	VUS	1 lab	77108ccd45
2:179483304 TTN G>C	2	179483304	179483304	G	C	TTN	c.46966+7C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483304G>C	(Likely) benign	1 lab	7711d7307c
2:233351162 ECEL1 A>G	2	233351162	233351162	A	G	ECEL1	c.202T>C	NM_004826.4	NP_004817.2:p.(Phe68Leu)	NC_000002.11:g.233351162A>G	VUS	1 lab	77130642d2
5:159680418 CCNJL G>A	5	159680418	159680418	G	A	CCNJL	c.1131C>T	NM_001308173.3	NP_001295102.1:p.(Ser377=)	NC_000005.9:g.159680418G>A	(Likely) benign	1 lab	7713b01fe2
7:104748351 KMT2E G>T	7	104748351	104748351	G	T	KMT2E	c.3447G>T	NM_182931.3	NP_891847.1:p.(Gln1149His)	NC_000007.13:g.104748351G>T	VUS	1 lab	7715392363
3:154033823 DHX36 C>T	3	154033823	154033823	C	T	DHX36	c.368+5G>A	NM_020865.3	NP_065916.2:p.?	NC_000003.11:g.154033823C>T	(Likely) benign	1 lab	7715647d91
16:88874666 CDT1 C>T	16	88874666	88874666	C	T	CDT1	c.1621C>T	NM_030928.4	NP_112190.2:p.(Arg541Cys)	NC_000016.9:g.88874666C>T	(Likely) benign	1 lab	77167409f7
10:89472887 PAPSS2 C>A	10	89472887	89472887	C	A	PAPSS2	c.201C>A	NM_001015880.2	NP_001015880.1:p.(Val67=)	NC_000010.10:g.89472887C>A	(Likely) benign	1 lab	7717263d00
12:41374862 CNTN1 A>G	12	41374862	41374862	A	G	CNTN1	c.1956A>G	NM_001843.4	NP_001834.2:p.(Ala652=)	NC_000012.11:g.41374862A>G	(Likely) benign	1 lab	7717770c92
19:40389728 FCGBP CACG>C	19	40389728	40389733	CACG	C	FCGBP	c.8451_8453del	NM_003890.3	NP_003881.2:p.(Val2819del)	NC_000019.9:g.40389731_40389733del	VUS	1 lab	77182612ae
9:5073693 JAK2 C>T	9	5073693	5073693	C	T	JAK2	c.1777-5C>T	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5073693C>T	(Likely) benign	1 lab	7718ef686e
X:154490185 RAB39B A>G	X	154490185	154490185	A	G	RAB39B	c.545T>C	NM_171998.4	NP_741995.1:p.(Ile182Thr)	NC_000023.10:g.154490185A>G	(Likely) benign	1 lab	771a24b240
8:66753643 PDE7A G>A	8	66753643	66753643	G	A	PDE7A	c.101C>T	NM_001242318.3	NP_001229247.1:p.(Ala34Val)	NC_000008.10:g.66753643G>A	(Likely) benign	1 lab	771ab5a9cd
12:24048729 SOX5 T>C	12	24048729	24048729	T	C	SOX5	c.268A>G	NM_006940.6	NP_008871.3:p.(Met90Val)	NC_000012.11:g.24048729T>C	VUS	1 lab	771c7e2d7b
4:85716064 WDFY3 A>G	4	85716064	85716064	A	G	WDFY3	c.3236T>C	NM_014991.6	NP_055806.2:p.(Ile1079Thr)	NC_000004.11:g.85716064A>G	(Likely) benign	1 lab	771dd5a129
21:43543028 UMODL1 C>T	21	43543028	43543028	C	T	UMODL1	c.2915C>T	NM_001004416.3	NP_001004416.3:p.(Thr972Ile)	NC_000021.8:g.43543028C>T	(Likely) benign	1 lab	771f76eee2
3:189607246 TP63 C>T	3	189607246	189607246	C	T	TP63	c.1625C>T	NM_003722.5	NP_003713.3:p.(Pro542Leu)	NC_000003.11:g.189607246C>T	VUS	1 lab	7720a42a9c
3:38592386 SCN5A C>T	3	38592386	38592386	C	T	SCN5A	c.5474G>A	NM_000335.5	NP_000326.2:p.(Arg1825His)	NC_000003.11:g.38592386C>T	VUS	1 lab	7722a3850d
X:48682095 HDAC6 C>A	X	48682095	48682095	C	A	HDAC6	c.3203C>A	NM_006044.4	NP_006035.2:p.(Ser1068Tyr)	NC_000023.10:g.48682095C>A	(Likely) benign	1 lab	7724849a0a
7:41729752 INHBA CT>C	7	41729752	41729754	CT	C	INHBA	c.776del	NM_002192.4	NP_002183.1:p.(Lys259ArgfsTer100)	NC_000007.13:g.41729754del	VUS	1 lab	77254ac30b
15:48787699 FBN1 T>C	15	48787699	48787699	T	C	FBN1	c.2506A>G	NM_000138.5	NP_000129.3:p.(Ser836Gly)	NC_000015.9:g.48787699T>C	(Likely) pathogenic	1 lab	77257a9711
16:1515332 CLCN7 C>T	16	1515332	1515332	C	T	CLCN7	c.149G>A	NM_001287.6	NP_001278.1:p.(Arg50His)	NC_000016.9:g.1515332C>T	VUS	1 lab	7725bd6a6f
1:1459770 ATAD3A C>T	1	1459770	1459770	C	T	ATAD3A	c.1207C>T	NM_001170535.3	NP_001164006.1:p.(Arg403Trp)	NC_000001.10:g.1459770C>T	VUS	1 lab	7725f5ba07
10:32308786 KIF5B G>A	10	32308786	32308786	G	A	KIF5B	c.2306C>T	NM_004521.3	NP_004512.1:p.(Thr769Met)	NC_000010.10:g.32308786G>A	(Likely) benign	1 lab	7726303c85
7:21639612 DNAH11 C>T	7	21639612	21639612	C	T	DNAH11	c.2875C>T	NM_001277115.2	NP_001264044.1:p.(Pro959Ser)	NC_000007.13:g.21639612C>T	VUS	1 lab	7727d15566
6:3154144 TUBB2A C>T	6	3154144	3154144	C	T	TUBB2A	c.1291G>A	NM_001069.3	NP_001060.1:p.(Asp431Asn)	NC_000006.11:g.3154144C>T	VUS	1 lab	7727e093ba
4:155467050 PLRG1 T>A	4	155467050	155467050	T	A	PLRG1	c.430A>T	NM_002669.4	NP_002660.1:p.(Ser144Cys)	NC_000004.11:g.155467050T>A	VUS	1 lab	772884cac2
X:24381433 SUPT20HL1 C>G	X	24381433	24381433	C	G	SUPT20HL1	c.556C>G	NM_001136234.3	NP_001129706.3:p.(Gln186Glu)	NC_000023.10:g.24381433C>G	(Likely) benign	1 lab	772a6fb145
9:99521365 ZNF510 G>A	9	99521365	99521365	G	A	ZNF510	c.1747C>T	NM_014930.3	NP_055745.1:p.(Arg583Trp)	NC_000009.11:g.99521365G>A	VUS	1 lab	772c322e01
12:6440039 TNFRSF1A A>T	12	6440039	6440039	A	T	TNFRSF1A	c.605T>A	NM_001065.3	NP_001056.1:p.(Val202Asp)	NC_000012.11:g.6440039A>T	(Likely) pathogenic	1 lab	3329846652
10:73587793 PSAP A>G	10	73587793	73587793	A	G	PSAP	c.698T>C	NM_002778.4	NP_002769.1:p.(Leu233Pro)	NC_000010.10:g.73587793A>G	VUS	1 lab	77302d994d
17:57288043 SMG8 C>T	17	57288043	57288043	C	T	SMG8	c.631C>T	NM_018149.7	NP_060619.4:p.(Leu211Phe)	NC_000017.10:g.57288043C>T	VUS	1 lab	7732ff4413
X:21674897 KLHL34 A>C	X	21674897	21674897	A	C	KLHL34	c.1010T>G	NM_153270.3	NP_695002.1:p.(Val337Gly)	NC_000023.10:g.21674897A>C	VUS	1 lab	77338c0c72
2:241727629 KIF1A C>T	2	241727629	241727629	C	T	KIF1A	c.202G>A	NM_001244008.2	NP_001230937.1:p.(Ala68Thr)	NC_000002.11:g.241727629C>T	(Likely) benign	1 lab	7733d68cb2
5:36985261 NIPBL A>G	5	36985261	36985261	A	G	NIPBL	c.1979A>G	NM_133433.4	NP_597677.2:p.(Glu660Gly)	NC_000005.9:g.36985261A>G	(Likely) benign	1 lab	773436f6ea
16:24800675 TNRC6A G>A	16	24800675	24800675	G	A	TNRC6A	c.712G>A	NM_014494.4	NP_055309.2:p.(Ala238Thr)	NC_000016.9:g.24800675G>A	VUS	1 lab	7734553272
8:119964054 TNFRSF11B T>G	8	119964054	119964054	T	G	TNFRSF11B	c.7A>C	NM_002546.4	NP_002537.3:p.(Asn3His)	NC_000008.10:g.119964054T>G	(Likely) benign	1 lab	77360806de
11:75277548 SERPINH1 T>C	11	75277548	75277548	T	C	SERPINH1	c.154T>C	NM_001235.5	NP_001226.2:p.(Phe52Leu)	NC_000011.9:g.75277548T>C	VUS	1 lab	7736151d00
16:89874745 FANCA G>T	16	89874745	89874745	G	T	FANCA	c.553C>A	NM_000135.4	NP_000126.2:p.(Leu185Ile)	NC_000016.9:g.89874745G>T	(Likely) benign	1 lab	7736209272
1:227171824 COQ8A A>G	1	227171824	227171824	A	G	COQ8A	c.1286A>G	NM_020247.5	NP_064632.2:p.(Tyr429Cys)	NC_000001.10:g.227171824A>G	VUS	1 lab	77381fcaa3
16:58620599 CNOT1 C>T	16	58620599	58620599	C	T	CNOT1	c.487G>A	NM_016284.5	NP_057368.3:p.(Ala163Thr)	NC_000016.9:g.58620599C>T	(Likely) benign	1 lab	77382c3924
17:36091658 HNF1B T>G	17	36091658	36091658	T	G	HNF1B	c.973A>C	NM_000458.4	NP_000449.1:p.(Ser325Arg)	NC_000017.10:g.36091658T>G	VUS	1 lab	7738632c10
1:165712544 TMCO1 C>A	1	165712544	165712544	C	A	TMCO1	c.328G>T	NM_019026.6	NP_061899.3:p.(Asp110Tyr)	NC_000001.10:g.165712544C>A	VUS	1 lab	773c268bcf
12:106773858 POLR3B C>T	12	106773858	106773858	C	T	POLR3B	c.664C>T	NM_018082.6	NP_060552.4:p.(Arg222Ter)	NC_000012.11:g.106773858C>T	(Likely) pathogenic	1 lab	773c4631a3
15:99467143 IGF1R C>T	15	99467143	99467143	C	T	IGF1R	c.2524C>T	NM_000875.5	NP_000866.1:p.(Pro842Ser)	NC_000015.9:g.99467143C>T	(Likely) benign	1 lab	773cad0b4a
12:85674230 ALX1 G>T	12	85674230	85674230	G	T	ALX1	c.191G>T	NM_006982.3	NP_008913.2:p.(Arg64Leu)	NC_000012.11:g.85674230G>T	(Likely) benign	1 lab	773d6848a5
1:154960714 FLAD1 G>A	1	154960714	154960714	G	A	FLAD1	c.506G>A	NM_025207.5	NP_079483.3:p.(Arg169His)	NC_000001.10:g.154960714G>A	VUS	1 lab	773dc1c2d1
15:51507934 CYP19A1 C>T	15	51507934	51507934	C	T	CYP19A1	c.824G>A	NM_000103.4	NP_000094.2:p.(Cys275Tyr)	NC_000015.9:g.51507934C>T	VUS	1 lab	773ddd851b
19:15295768 NOTCH3 C>T	19	15295768	15295768	C	T	NOTCH3	c.2359G>A	NM_000435.3	NP_000426.2:p.(Glu787Lys)	NC_000019.9:g.15295768C>T	VUS	1 lab	773df1caa2
14:105414753 AHNAK2 C>CGGGT	14	105414753	105414755	C	CGGGT	AHNAK2	c.7034_7035insACCC	NM_138420.4	NP_612429.2:p.(Leu2346ProfsTer21)	NC_000014.8:g.105414754_105414755insGGTG	VUS	1 lab	773e30d057
11:26563572 ANO3 C>T	11	26563572	26563572	C	T	ANO3	c.1111C>T	NM_031418.4	NP_113606.2:p.(Arg371Cys)	NC_000011.9:g.26563572C>T	VUS	1 lab	7740b5899a
X:70072943 TEX11 T>C	X	70072943	70072943	T	C	TEX11	c.466A>G	NM_031276.3	NP_112566.2:p.(Met156Val)	NC_000023.10:g.70072943T>C	(Likely) benign	1 lab	7740e45792
7:34125509 BMPER T>C	7	34125509	34125509	T	C	BMPER	c.1550T>C	NM_001365308.1	NP_001352237.1:p.(Phe517Ser)	NC_000007.13:g.34125509T>C	VUS	1 lab	7741ce9851
X:106219912 MORC4 T>G	X	106219912	106219912	T	G	MORC4	c.1059A>C	NM_024657.5	NP_078933.3:p.(Pro353=)	NC_000023.10:g.106219912T>G	VUS	1 lab	7745c88055
4:79284822 FRAS1 GAGTA>G	4	79284822	79284829	GAGTA	G	FRAS1	c.2575+7_2575+10del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79284826_79284829del	VUS	1 lab	7746554415
16:16235092 ABCC1 A>G	16	16235092	16235092	A	G	ABCC1	c.4550A>G	NM_004996.4	NP_004987.2:p.(Gln1517Arg)	NC_000016.9:g.16235092A>G	VUS	1 lab	77468f8711
1:27023247 ARID1A C>T	1	27023247	27023247	C	T	ARID1A	c.353C>T	NM_006015.6	NP_006006.3:p.(Thr118Met)	NC_000001.10:g.27023247C>T	VUS	1 lab	77473b71cb
17:10304408 MYH8 A>C	17	10304408	10304408	A	C	MYH8	c.3209T>G	NM_002472.3	NP_002463.2:p.(Met1070Arg)	NC_000017.10:g.10304408A>C	VUS	1 lab	774855806f
X:15565002 BMX C>G	X	15565002	15565002	C	G	BMX	c.1753C>G	NM_203281.3	NP_975010.1:p.(His585Asp)	NC_000023.10:g.15565002C>G	(Likely) benign	1 lab	774961f924
4:5642570 EVC2 G>C	4	5642570	5642570	G	C	EVC2	c.1146-5C>G	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5642570G>C	(Likely) benign	1 lab	774990bb2f
11:126145694 FOXRED1 G>T	11	126145694	126145694	G	T	FOXRED1	c.739G>T	NM_017547.4	NP_060017.1:p.(Val247Phe)	NC_000011.9:g.126145694G>T	(Likely) benign	1 lab	7749b81b57
3:156978980 VEPH1 G>T	3	156978980	156978980	G	T	VEPH1	c.2445C>A	NM_001167912.2	NP_001161384.1:p.(Asn815Lys)	NC_000003.11:g.156978980G>T	(Likely) benign	1 lab	774c288d5f
9:139739186 AJM1 C>T	9	139739186	139739186	C	T	AJM1	c.320C>T	NM_001080482.5	NP_001073951.2:p.(Pro107Leu)	NC_000009.11:g.139739186C>T	VUS	1 lab	774c8ec9b8
X:7177644 STS A>G	X	7177644	7177644	A	G	STS	c.637A>G	NM_001320752.2	NP_001307681.2:p.(Ser213Gly)	NC_000023.10:g.7177644A>G	(Likely) benign	1 lab	774f0ab236
22:18898420 DGCR6 G>A	22	18898420	18898420	G	A	DGCR6	c.392G>A	NM_005675.6	NP_005666.2:p.(Arg131His)	NC_000022.10:g.18898420G>A	(Likely) benign	1 lab	7750967965
9:118950503 PAPPA C>T	9	118950503	118950503	C	T	PAPPA	c.1478+8C>T	NM_002581.5	NP_002572.2:p.?	NC_000009.11:g.118950503C>T	(Likely) benign	1 lab	775211bbac
2:220299751 SPEG C>T	2	220299751	220299751	C	T	SPEG	c.52C>T	NM_005876.5	NP_005867.3:p.(Pro18Ser)	NC_000002.11:g.220299751C>T	(Likely) benign	1 lab	77528f85cb
4:47033590 GABRB1 G>T	4	47033590	47033590	G	T	GABRB1	c.-79G>T	NM_000812.4	NP_000803.2:p.?	NC_000004.11:g.47033590G>T	VUS	1 lab	77558059af
2:219922425 IHH GGAAT>G	2	219922425	219922430	GGAAT	G	IHH	c.316-13_316-10del	NM_002181.4	NP_002172.2:p.?	NC_000002.11:g.219922427_219922430del	(Likely) benign	1 lab	775742a147
19:55255534 KIR2DL3 C>T	19	55255534	55255534	C	T	KIR2DL3	c.662C>T	NM_015868.3	NP_056952.2:p.(Thr221Ile)	NC_000019.9:g.55255534C>T	VUS	1 lab	77578f2052
1:22170652 HSPG2 C>G	1	22170652	22170652	C	G	HSPG2	c.8605G>C	NM_005529.7	NP_005520.4:p.(Ala2869Pro)	NC_000001.10:g.22170652C>G	(Likely) benign	1 lab	775930854d
7:39990681 CDK13 G>A	7	39990681	39990681	G	A	CDK13	c.441G>A	NM_003718.5	NP_003709.3:p.(Glu147=)	NC_000007.13:g.39990681G>A	(Likely) benign	1 lab	775bbe35cf
3:15531163 COLQ C>T	3	15531163	15531163	C	T	COLQ	c.107-19G>A	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15531163C>T	(Likely) benign	1 lab	77718ef7dd
2:160239111 BAZ2B C>T	2	160239111	160239111	C	T	BAZ2B	c.3964G>A	NM_013450.4	NP_038478.2:p.(Glu1322Lys)	NC_000002.11:g.160239111C>T	(Likely) benign	1 lab	775ceae28e
2:179446505 TTN T>G	2	179446505	179446505	T	G	TTN	c.66490A>C	NM_001267550.2	NP_001254479.2:p.(Lys22164Gln)	NC_000002.11:g.179446505T>G	VUS	1 lab	775dba0949
1:36026321 NCDN A>ATGGCTTTGACCAGGCCC	1	36026321	36026342	A	ATGGCTTTGACCAGGCCC	NCDN	c.574_590dup	NM_014284.3	NP_055099.1:p.(Leu199ThrfsTer81)	NC_000001.10:g.36026326_36026342dup	(Likely) pathogenic	1 lab	775e5896f2
20:60639815 TAF4 AC>A	20	60639815	60639817	AC	A	TAF4	c.1051del	NM_003185.4	NP_003176.2:p.(Val351CysfsTer58)	NC_000020.10:g.60639817del	VUS	1 lab	775ef10c54
X:38664341 MID1IP1 T>A	X	38664341	38664341	T	A	MID1IP1	c.142T>A	NM_021242.6	NP_067065.1:p.(Leu48Ile)	NC_000023.10:g.38664341T>A	VUS	1 lab	77630bbf37
1:22816764 ZBTB40 G>A	1	22816764	22816764	G	A	ZBTB40	c.323G>A	NM_014870.4	NP_055685.3:p.(Ser108Asn)	NC_000001.10:g.22816764G>A	VUS	1 lab	77630c234f
17:7800593 CHD3 C>T	17	7800593	7800593	C	T	CHD3	c.1900C>T	NM_001005273.3	NP_001005273.1:p.(His634Tyr)	NC_000017.10:g.7800593C>T	VUS	1 lab	776395707a
4:1232059 CTBP1 C>T	4	1232059	1232059	C	T	CTBP1	c.74G>A	NM_001012614.2	NP_001012632.1:p.(Arg25Gln)	NC_000004.11:g.1232059C>T	VUS	1 lab	7764a397c2
2:178326731 AGPS C>T	2	178326731	178326731	C	T	AGPS	c.981C>T	NM_003659.4	NP_003650.1:p.(Gly327=)	NC_000002.11:g.178326731C>T	VUS	1 lab	776547ec50
X:37518838 LANCL3 G>A	X	37518838	37518838	G	A	LANCL3	c.821G>A	NM_001170331.2	NP_001163802.1:p.(Cys274Tyr)	NC_000023.10:g.37518838G>A	VUS	1 lab	77659b7e93
X:151870027 MAGEA3 C>G	X	151870027	151870027	C	G	MAGEA3	c.717=	NM_005362.4	NP_005353.1:p.(Leu239=)	NC_000023.10:g.151870027C>G	(Likely) benign	1 lab	7766b99085
20:47628454 ARFGEF2 C>T	20	47628454	47628454	C	T	ARFGEF2	c.3758-7C>T	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47628454C>T	(Likely) benign	1 lab	7766e32804
16:75690443 TERF2IP A>C	16	75690443	75690443	A	C	TERF2IP	c.1134A>C	NM_018975.4	NP_061848.2:p.(Arg378Ser)	NC_000016.9:g.75690443A>C	VUS	1 lab	234efff179
19:15281135 NOTCH3 T>C	19	15281135	15281135	T	C	NOTCH3	c.5114+7A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15281135T>C	(Likely) benign	1 lab	776bcd9393
11:108151735 ATM A>T	11	108151735	108151735	A	T	ATM	c.3416A>T	NM_000051.4	NP_000042.3:p.(Glu1139Val)	NC_000011.9:g.108151735A>T	VUS	1 lab	776c696c26
2:25463308 DNMT3A G>A	2	25463308	25463308	G	A	DNMT3A	c.2185C>T	NM_022552.5	NP_072046.2:p.(Arg729Trp)	NC_000002.11:g.25463308G>A	VUS	1 lab	776f206ff0
6:39880751 MOCS1 G>A	6	39880751	39880751	G	A	MOCS1	c.758-3C>T	NM_001358530.2	NP_001345459.1:p.?	NC_000006.11:g.39880751G>A	VUS	1 lab	77719f3372
2:182542972 NEUROD1 G>C	2	182542972	182542972	G	C	NEUROD1	c.616C>G	NM_002500.5	NP_002491.3:p.(His206Asp)	NC_000002.11:g.182542972G>C	VUS	1 lab	7771f3defd
1:184680849 EDEM3 C>A	1	184680849	184680849	C	A	EDEM3	c.1691+8G>T	NM_025191.4	NP_079467.3:p.?	NC_000001.10:g.184680849C>A	(Likely) benign	1 lab	7771f439bb
7:151878271 KMT2C G>A	7	151878271	151878271	G	A	KMT2C	c.6674C>T	NM_170606.3	NP_733751.2:p.(Pro2225Leu)	NC_000007.13:g.151878271G>A	(Likely) benign	1 lab	777237bcf0
X:77021936 ATRX A>G	X	77021936	77021936	A	G	ATRX	c.20+19532T>C	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.77021936A>G	(Likely) benign	1 lab	77727295fe
9:138589415 SOHLH1 G>A	9	138589415	138589415	G	A	SOHLH1	c.404C>T	NM_001101677.2	NP_001095147.2:p.(Thr135Met)	NC_000009.11:g.138589415G>A	(Likely) benign	1 lab	7772f03c45
22:50723307 PLXNB2 G>GGT	22	50723307	50723309	G	GGT	PLXNB2	c.2089-214_2089-213insAC	NM_012401.4	NP_036533.2:p.?	NC_000022.10:g.50723308_50723309insTG	VUS	1 lab	77743383be
19:17394394 ANKLE1 G>A	19	17394394	17394394	G	A	ANKLE1	c.821G>A	NM_152363.6	NP_689576.6:p.(Arg274His)	NC_000019.9:g.17394394G>A	(Likely) benign	1 lab	77747651c7
16:89346387 ANKRD11 G>A	16	89346387	89346387	G	A	ANKRD11	c.6563C>T	NM_013275.6	NP_037407.4:p.(Pro2188Leu)	NC_000016.9:g.89346387G>A	(Likely) benign	1 lab	7774a9a469
20:33264885 PIGU G>A	20	33264885	33264885	G	A	PIGU	c.5C>T	NM_080476.5	NP_536724.1:p.(Ala2Val)	NC_000020.10:g.33264885G>A	VUS	1 lab	777542f5e7
12:40757198 LRRK2 C>T	12	40757198	40757198	C	T	LRRK2	c.7029-6C>T	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40757198C>T	(Likely) benign	1 lab	7777bae53d
17:62038590 SCN4A G>C	17	62038590	62038590	G	C	SCN4A	c.1808C>G	NM_000334.4	NP_000325.4:p.(Thr603Arg)	NC_000017.10:g.62038590G>C	VUS	1 lab	7778b752b5
22:21342296 LZTR1 C>A	22	21342296	21342296	C	A	LZTR1	c.401-3C>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21342296C>A	(Likely) benign	1 lab	777a9176c6
18:46860218 DYM A>T	18	46860218	46860218	A	T	DYM	c.500T>A	NM_001353214.3	NP_001340143.1:p.(Ile167Asn)	NC_000018.9:g.46860218A>T	(Likely) benign	1 lab	777a9c7022
6:79770218 PHIP T>G	6	79770218	79770218	T	G	PHIP	c.416A>C	NM_017934.7	NP_060404.4:p.(Asn139Thr)	NC_000006.11:g.79770218T>G	(Likely) benign	1 lab	777e7daee7
17:39740610 KRT14 G>A	17	39740610	39740610	G	A	KRT14	c.664C>T	NM_000526.5	NP_000517.3:p.(Arg222Cys)	NC_000017.10:g.39740610G>A	VUS	1 lab	777ec24a59
2:230636242 TRIP12 G>C	2	230636242	230636242	G	C	TRIP12	c.5801C>G	NM_001348323.3	NP_001335252.1:p.(Pro1934Arg)	NC_000002.11:g.230636242G>C	VUS	1 lab	777f602c08
19:12936745 RTBDN G>A	19	12936745	12936745	G	A	RTBDN	c.465C>T	NM_001270441.2	NP_001257370.2:p.(Thr155=)	NC_000019.9:g.12936745G>A	(Likely) benign	1 lab	7780028a16
7:48311691 ABCA13 C>A	7	48311691	48311691	C	A	ABCA13	c.2428C>A	NM_152701.5	NP_689914.3:p.(His810Asn)	NC_000007.13:g.48311691C>A	(Likely) benign	1 lab	77806e0ca3
14:30103753 PRKD1 G>A	14	30103753	30103753	G	A	PRKD1	c.1191-6C>T	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30103753G>A	(Likely) benign	1 lab	7781c71388
2:220462805 STK11IP TC>T	2	220462805	220462813	TC	T	STK11IP	c.-26-3del	NM_052902.4	NP_443134.3:p.?	NC_000002.11:g.220462813del	(Likely) benign	1 lab	77821e8f78
2:107075768 RGPD3 A>T	2	107075768	107075768	A	T	RGPD3	c.93T>A	NM_001144013.2	NP_001137485.1:p.(Tyr31Ter)	NC_000002.11:g.107075768A>T	VUS	1 lab	778314a230
5:126146034 LMNB1 C>T	5	126146034	126146034	C	T	LMNB1	c.805C>T	NM_005573.4	NP_005564.1:p.(His269Tyr)	NC_000005.9:g.126146034C>T	(Likely) benign	1 lab	77833a8d4f
17:61894218 DDX42 A>AT	17	61894218	61894225	A	AT	DDX42	c.2014-3dup	NM_203499.3	NP_987095.1:p.?	NC_000017.10:g.61894225dup	(Likely) benign	1 lab	778355c25e
11:82443625 FAM181B G>A	11	82443625	82443625	G	A	FAM181B	c.1147C>T	NM_175885.4	NP_787081.2:p.(Pro383Ser)	NC_000011.9:g.82443625G>A	VUS	1 lab	77850ae2d0
16:2139928 PKD1 G>A	16	2139928	2139928	G	A	PKD1	c.12712C>T	NM_001009944.3	NP_001009944.3:p.(Gln4238Ter)	NC_000016.9:g.2139928G>A	(Likely) pathogenic	1 lab	778634fe5e
6:168999493 SMOC2 C>T	6	168999493	168999493	C	T	SMOC2	c.638-5C>T	NM_001166412.2	NP_001159884.1:p.?	NC_000006.11:g.168999493C>T	(Likely) benign	1 lab	7786c6acf0
8:41794954 KAT6A T>A	8	41794954	41794954	T	A	KAT6A	c.3172A>T	NM_006766.5	NP_006757.2:p.(Met1058Leu)	NC_000008.10:g.41794954T>A	(Likely) benign	1 lab	7786c945b5
3:12421448 PPARG A>G	3	12421448	12421448	A	G	PPARG	c.220+18A>G	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12421448A>G	(Likely) benign	1 lab	778936f6d5
16:3824559 CREBBP A>G	16	3824559	3824559	A	G	CREBBP	c.2283+11T>C	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3824559A>G	(Likely) benign	1 lab	24a6556923
2:190430119 SLC40A1 CTTT>C	2	190430119	190430122	CTTT	C	SLC40A1	c.718_720del	NM_014585.6	NP_055400.1:p.(Lys240del)	NC_000002.11:g.190430120_190430122del	VUS	1 lab	2350604251
10:51970604 ASAH2 C>T	10	51970604	51970604	C	T	ASAH2	c.1393G>A	NM_019893.4	NP_063946.2:p.(Gly465Arg)	NC_000010.10:g.51970604C>T	VUS	1 lab	778daeba31
11:114315296 REXO2 A>G	11	114315296	114315296	A	G	REXO2	c.343A>G	NM_015523.4	NP_056338.2:p.(Ile115Val)	NC_000011.9:g.114315296A>G	(Likely) benign	1 lab	778de59eed
2:73215396 SFXN5 G>A	2	73215396	73215396	G	A	SFXN5	c.616C>T	NM_144579.3	NP_653180.1:p.(Pro206Ser)	NC_000002.11:g.73215396G>A	VUS	1 lab	778ef75be5
2:110920673 NPHP1 T>C	2	110920673	110920673	T	C	NPHP1	c.811A>G	NM_001128178.3	NP_001121650.1:p.(Ile271Val)	NC_000002.11:g.110920673T>C	(Likely) benign	1 lab	778f31cd4d
9:6644656 GLDC T>C	9	6644656	6644656	T	C	GLDC	c.292A>G	NM_000170.3	NP_000161.2:p.(Asn98Asp)	NC_000009.11:g.6644656T>C	VUS	1 lab	77907f4f54
7:104717599 KMT2E G>A	7	104717599	104717599	G	A	KMT2E	c.958G>A	NM_182931.3	NP_891847.1:p.(Asp320Asn)	NC_000007.13:g.104717599G>A	(Likely) benign	1 lab	7790fc21ad
15:35083331 ACTC1 C>T	15	35083331	35083331	C	T	ACTC1	c.974G>A	NM_005159.4	NP_005150.1:p.(Ser325Asn)	NC_000015.9:g.35083331C>T	VUS	1 lab	24a701e563
22:37492013 TMPRSS6 G>A	22	37492013	37492013	G	A	TMPRSS6	c.522C>T	NM_001374504.1	NP_001361433.1:p.(Val174=)	NC_000022.10:g.37492013G>A	(Likely) benign	1 lab	7792e98b82
7:44189584 GCK G>A	7	44189584	44189584	G	A	GCK	c.563C>T	NM_000162.5	NP_000153.1:p.(Ala188Val)	NC_000007.13:g.44189584G>A	(Likely) pathogenic	1 lab	779366be95
19:11333410 DOCK6 C>A	19	11333410	11333410	C	A	DOCK6	c.3240+1G>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11333410C>A	VUS	1 lab	7794c957cf
17:72353331 BTBD17 G>A	17	72353331	72353331	G	A	BTBD17	c.902C>T	NM_001080466.2	NP_001073935.1:p.(Ala301Val)	NC_000017.10:g.72353331G>A	VUS	1 lab	7795c9954c
13:32910536 BRCA2 A>G	13	32910536	32910536	A	G	BRCA2	c.2044A>G	NM_000059.3	NP_000050.2:p.(Ile682Val)	NC_000013.10:g.32910536A>G	(Likely) benign	1 lab	24a6c56dc4
20:44515322 SPATA25 C>T	20	44515322	44515322	C	T	SPATA25	c.518G>A	NM_080608.4	NP_542175.1:p.(Arg173Gln)	NC_000020.10:g.44515322C>T	(Likely) benign	1 lab	7797151ab6
15:89403689 ACAN G>A	15	89403689	89403689	G	A	ACAN	c.6946+19G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89403689G>A	VUS	1 lab	779732beb4
X:74698827 ZDHHC15 T>TA	X	74698827	74698837	T	TA	ZDHHC15	c.164-8dup	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74698837dup	VUS	1 lab	77993a17ce
5:16675144 MYO10 C>T	5	16675144	16675144	C	T	MYO10	c.4782G>A	NM_012334.3	NP_036466.2:p.(Gln1594=)	NC_000005.9:g.16675144C>T	(Likely) benign	1 lab	7799fbd249
6:39281850 KCNK17 C>A	6	39281850	39281850	C	A	KCNK17	c.237+10G>T	NM_031460.4	NP_113648.2:p.?	NC_000006.11:g.39281850C>A	(Likely) benign	1 lab	779c6f608a
2:238258808 COL6A3 C>T	2	238258808	238258808	C	T	COL6A3	c.6861G>A	NM_004369.4	NP_004360.2:p.(Arg2287=)	NC_000002.11:g.238258808C>T	(Likely) benign	1 lab	779da16cc3
9:138678096 KCNT1 G>A	9	138678096	138678096	G	A	KCNT1	c.3231G>A	NM_020822.2	NP_065873.2:p.(Gly1077=)	NC_000009.11:g.138678096G>A	(Likely) benign	1 lab	24a838da74
3:126710228 PLXNA1 C>A	3	126710228	126710228	C	A	PLXNA1	c.1196C>A	NM_032242.4	NP_115618.3:p.(Pro399His)	NC_000003.11:g.126710228C>A	VUS	1 lab	779f9cc5ca
X:23693099 PRDX4 C>T	X	23693099	23693099	C	T	PRDX4	c.360-8C>T	NM_006406.2	NP_006397.1:p.?	NC_000023.10:g.23693099C>T	(Likely) benign	1 lab	77a0157ae8
2:179600747 TTN C>T	2	179600747	179600747	C	T	TTN	c.14426G>A	NM_001267550.2	NP_001254479.2:p.(Gly4809Asp)	NC_000002.11:g.179600747C>T	VUS	1 lab	77a037ba5f
2:179613689 TTN T>A	2	179613689	179613689	T	A	TTN	c.11311+4162A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613689T>A	VUS	1 lab	77a0f9ba55
2:48040426 FBXO11 TTTC>T	2	48040426	48040434	TTTC	T	FBXO11	c.2171_2173del	NM_001190274.2	NP_001177203.1:p.(Arg724del)	NC_000002.11:g.48040432_48040434del	VUS	1 lab	77a1010cee
9:139733705 RABL6 G>A	9	139733705	139733705	G	A	RABL6	c.1525G>A	NM_024718.5	NP_078994.3:p.(Gly509Arg)	NC_000009.11:g.139733705G>A	VUS	1 lab	77a1ecd11d
19:14218712 PRKACA C>T	19	14218712	14218712	C	T	PRKACA	c.47-491G>A	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14218712C>T	VUS	1 lab	77a26ac908
13:43148385 TNFSF11 G>A	13	43148385	43148385	G	A	TNFSF11	c.-55G>A	NM_003701.4	NP_003692.1:p.?	NC_000013.10:g.43148385G>A	(Likely) benign	1 lab	77a318ab46
19:1848308 REXO1 G>A	19	1848308	1848308	G	A	REXO1	c.50C>T	NM_020695.4	NP_065746.3:p.(Ser17Phe)	NC_000019.9:g.1848308G>A	(Likely) benign	1 lab	77a50a0d4a
11:17428617 ABCC8 C>A	11	17428617	17428617	C	A	ABCC8	c.2980G>T	NM_000352.6	NP_000343.2:p.(Glu994Ter)	NC_000011.9:g.17428617C>A	(Likely) pathogenic	1 lab	77a5ed760e
13:36871782 CCDC169 G>T	13	36871782	36871782	G	T	CCDC169	c.75C>A	NM_001144981.3	NP_001138453.1:p.(Val25=)	NC_000013.10:g.36871782G>T	(Likely) benign	1 lab	77a60bc297
3:39433512 SLC25A38 G>A	3	39433512	39433512	G	A	SLC25A38	c.625G>A	NM_017875.4	NP_060345.2:p.(Asp209Asn)	NC_000003.11:g.39433512G>A	VUS	1 lab	77a62ace4b
22:35811877 MCM5 G>C	22	35811877	35811877	G	C	MCM5	c.1259G>C	NM_006739.4	NP_006730.2:p.(Arg420Thr)	NC_000022.10:g.35811877G>C	VUS	1 lab	77a62dfff3
5:176729749 RAB24 T>C	5	176729749	176729749	T	C	RAB24	c.265+4A>G	NM_001031677.4	NP_001026847.1:p.?	NC_000005.9:g.176729749T>C	(Likely) benign	1 lab	77a6570327
6:7240688 RREB1 T>C	6	7240688	7240688	T	C	RREB1	c.3826T>C	NM_001003699.4	NP_001003699.1:p.(Cys1276Arg)	NC_000006.11:g.7240688T>C	VUS	1 lab	77a6bc415e
5:58287680 PDE4D T>A	5	58287680	58287680	T	A	PDE4D	c.1167A>T	NM_001104631.2	NP_001098101.1:p.(Glu389Asp)	NC_000005.9:g.58287680T>A	(Likely) benign	1 lab	77a7dd20af
22:29121122 CHEK2 A>G	22	29121122	29121122	A	G	CHEK2	c.445-10T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121122A>G	(Likely) benign	1 lab	77a896689b
11:16812693 PLEKHA7 G>T	11	16812693	16812693	G	T	PLEKHA7	c.2799C>A	NM_001329630.2	NP_001316559.1:p.(Asp933Glu)	NC_000011.9:g.16812693G>T	VUS	1 lab	77a9e856dd
19:15483847 AKAP8 C>T	19	15483847	15483847	C	T	AKAP8	c.676G>A	NM_005858.4	NP_005849.1:p.(Glu226Lys)	NC_000019.9:g.15483847C>T	(Likely) benign	1 lab	77aa66bade
20:43048421 HNF4A T>C	20	43048421	43048421	T	C	HNF4A	c.797T>C	NM_000457.5	NP_000448.3:p.(Ile266Thr)	NC_000020.10:g.43048421T>C	VUS	1 lab	77abd82299
2:219892665 CFAP65 C>G	2	219892665	219892665	C	G	CFAP65	c.1918G>C	NM_194302.4	NP_919278.2:p.(Gly640Arg)	NC_000002.11:g.219892665C>G	(Likely) benign	1 lab	77ad19a2dd
1:226054819 TMEM63A G>A	1	226054819	226054819	G	A	TMEM63A	c.559C>T	NM_014698.3	NP_055513.2:p.(Gln187Ter)	NC_000001.10:g.226054819G>A	VUS	1 lab	77af4e5082
20:43052863 HNF4A T>A	20	43052863	43052863	T	A	HNF4A	c.1098T>A	NM_000457.5	NP_000448.3:p.(Ile366=)	NC_000020.10:g.43052863T>A	(Likely) benign	1 lab	77cdb1a1a9
7:94232658 SGCE T>G	7	94232658	94232658	T	G	SGCE	c.769A>C	NM_003919.3	NP_003910.1:p.(Thr257Pro)	NC_000007.13:g.94232658T>G	(Likely) benign	1 lab	77b79682ff
X:40440348 ATP6AP2 G>C	X	40440348	40440348	G	C	ATP6AP2	c.31G>C	NM_005765.3	NP_005756.2:p.(Val11Leu)	NC_000023.10:g.40440348G>C	(Likely) benign	1 lab	77b8b183f2
22:19753970 TBX1 G>T	22	19753970	19753970	G	T	TBX1	c.1068G>T	NM_080647.1	NP_542378.1:p.(Gly356=)	NC_000022.10:g.19753970G>T	(Likely) benign	1 lab	24abf47998
2:231380279 SP100 G>C	2	231380279	231380279	G	C	SP100	c.2094+4398G>C	NM_001080391.2	NP_001073860.1:p.?	NC_000002.11:g.231380279G>C	(Likely) benign	1 lab	77b8e22684
2:217315603 SMARCAL1 A>T	2	217315603	217315603	A	T	SMARCAL1	c.1886A>T	NM_014140.4	NP_054859.2:p.(Asn629Ile)	NC_000002.11:g.217315603A>T	VUS	1 lab	77b998a9c3
4:81967239 BMP3 A>G	4	81967239	81967239	A	G	BMP3	c.664A>G	NM_001201.5	NP_001192.4:p.(Thr222Ala)	NC_000004.11:g.81967239A>G	(Likely) benign	1 lab	77ba4d2eb5
11:108158353 ATM A>G	11	108158353	108158353	A	G	ATM	c.4020A>G	NM_000051.4	NP_000042.3:p.(Leu1340=)	NC_000011.9:g.108158353A>G	(Likely) benign	1 lab	77bbc9b737
X:71525279 CITED1 G>A	X	71525279	71525279	G	A	CITED1	c.-66+396C>T	NM_001144887.2	NP_001138359.1:p.?	NC_000023.10:g.71525279G>A	(Likely) benign	1 lab	77bd7affa8
14:21896377 CHD8 C>T	14	21896377	21896377	C	T	CHD8	c.1252G>A	NM_001170629.2	NP_001164100.1:p.(Val418Ile)	NC_000014.8:g.21896377C>T	VUS	1 lab	77be743690
22:38379781 SOX10 T>C	22	38379781	38379781	T	C	SOX10	c.11A>G	NM_006941.4	NP_008872.1:p.(Glu4Gly)	NC_000022.10:g.38379781T>C	VUS	1 lab	77bec38617
18:21124914 NPC1 C>CA	18	21124914	21124915	C	CA	NPC1	c.1947+9_1947+10insT	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124914_21124915insA	(Likely) benign	1 lab	77bf77fd12
5:176023859 GPRIN1 T>A	5	176023859	176023859	T	A	GPRIN1	c.2977A>T	NM_052899.3	NP_443131.2:p.(Ser993Cys)	NC_000005.9:g.176023859T>A	VUS	1 lab	77bfa9339e
13:51484216 RNASEH2B G>C	13	51484216	51484216	G	C	RNASEH2B	c.4G>C	NM_024570.4	NP_078846.2:p.(Ala2Pro)	NC_000013.10:g.51484216G>C	VUS	1 lab	78250144e0
5:140907266 DIAPH1 T>TAAAAAAAAAAAA	5	140907266	140907289	T	TAAAAAAAAAAAA	DIAPH1	c.3149-14_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907278_140907289dup	(Likely) benign	1 lab	77c005dd0a
12:30805226 IPO8 G>GAA	12	30805226	30805234	G	GAA	IPO8	c.2075-5_2075-4dup	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30805233_30805234dup	(Likely) benign	1 lab	24afd04bc4
X:140994215 MAGEC1 T>G	X	140994215	140994215	T	G	MAGEC1	c.1025T>G	NM_005462.5	NP_005453.2:p.(Met342Arg)	NC_000023.10:g.140994215T>G	VUS	1 lab	77c192615c
1:152084950 TCHH T>C	1	152084950	152084950	T	C	TCHH	c.743A>G	NM_007113.4	NP_009044.2:p.(Lys248Arg)	NC_000001.10:g.152084950T>C	VUS	1 lab	77c1cafa71
8:144995380 PLEC C>T	8	144995380	144995380	C	T	PLEC	c.8609G>A	NM_201384.3	NP_958786.1:p.(Arg2870His)	NC_000008.10:g.144995380C>T	VUS	1 lab	77c32776e5
7:140301308 DENND2A G>C	7	140301308	140301308	G	C	DENND2A	c.890C>G	NM_015689.5	NP_056504.3:p.(Pro297Arg)	NC_000007.13:g.140301308G>C	VUS	1 lab	77c4419b7a
2:165947596 SCN3A C>A	2	165947596	165947596	C	A	SCN3A	c.5067G>T	NM_006922.4	NP_008853.3:p.(Met1689Ile)	NC_000002.11:g.165947596C>A	VUS	1 lab	77c48f1f8a
2:211518806 CPS1 G>A	2	211518806	211518806	G	A	CPS1	c.3538G>A	NM_001875.5	NP_001866.2:p.(Ala1180Thr)	NC_000002.11:g.211518806G>A	VUS	1 lab	77c62d1354
19:52869241 ZNF610 T>C	19	52869241	52869241	T	C	ZNF610	c.610T>C	NM_001161425.2	NP_001154897.1:p.(Tyr204His)	NC_000019.9:g.52869241T>C	(Likely) benign	1 lab	77c783d958
8:144995008 PLEC C>T	8	144995008	144995008	C	T	PLEC	c.8981G>A	NM_201384.3	NP_958786.1:p.(Arg2994His)	NC_000008.10:g.144995008C>T	(Likely) benign	1 lab	77c7b884b0
17:1630568 WDR81 A>G	17	1630568	1630568	A	G	WDR81	c.2315A>G	NM_001163809.2	NP_001157281.1:p.(Gln772Arg)	NC_000017.10:g.1630568A>G	VUS	1 lab	77c80899bd
2:47630396 MSH2 CT>C	2	47630396	47630399	CT	C	MSH2	c.69del	NM_000251.3	NP_000242.1:p.(Gln24ArgfsTer40)	NC_000002.11:g.47630399del	(Likely) pathogenic	1 lab	77c85462e2
12:110032975 MVK T>C	12	110032975	110032975	T	C	MVK	c.1028T>C	NM_000431.2	NP_000422.1:p.(Leu343Pro)	NC_000012.11:g.110032975T>C	VUS	1 lab	24b0bbca10
12:465615 KDM5A C>T	12	465615	465615	C	T	KDM5A	c.761G>A	NM_001042603.3	NP_001036068.1:p.(Gly254Glu)	NC_000012.11:g.465615C>T	(Likely) benign	1 lab	77cee4e903
1:103412425 COL11A1 C>A	1	103412425	103412425	C	A	COL11A1	c.3256G>T	NM_001854.4	NP_001845.3:p.(Ala1086Ser)	NC_000001.10:g.103412425C>A	VUS	1 lab	77cf925982
6:136599751 BCLAF1 G>A	6	136599751	136599751	G	A	BCLAF1	c.268C>T	NM_014739.3	NP_055554.1:p.(Arg90Ter)	NC_000006.11:g.136599751G>A	VUS	1 lab	77d1819dc8
12:7842986 GDF3 G>A	12	7842986	7842986	G	A	GDF3	c.583C>T	NM_020634.3	NP_065685.1:p.(Arg195Trp)	NC_000012.11:g.7842986G>A	(Likely) benign	1 lab	77d21cd76e
11:73809127 C2CD3 TC>T	11	73809127	73809128	TC	T	C2CD3	c.2905del	NM_001286577.2	NP_001273506.1:p.(Glu969LysfsTer33)	NC_000011.9:g.73809128del	VUS	1 lab	77d22926db
X:76920197 ATRX C>G	X	76920197	76920197	C	G	ATRX	c.3880G>C	NM_000489.6	NP_000480.3:p.(Asp1294His)	NC_000023.10:g.76920197C>G	VUS	1 lab	77d3561aff
15:58258035 ALDH1A2 G>C	15	58258035	58258035	G	C	ALDH1A2	c.799-10C>G	NM_003888.4	NP_003879.2:p.?	NC_000015.9:g.58258035G>C	(Likely) benign	1 lab	77d3a0947e
X:39932108 BCOR C>T	X	39932108	39932108	C	T	BCOR	c.2491G>A	NM_001123385.2	NP_001116857.1:p.(Val831Ile)	NC_000023.10:g.39932108C>T	(Likely) benign	1 lab	77d62ceff2
1:110230874 GSTM1 G>A	1	110230874	110230874	G	A	GSTM1	c.112+7G>A	NM_000561.4	NP_000552.2:p.?	NC_000001.10:g.110230874G>A	(Likely) benign	1 lab	77d6a6de0b
19:6479025 DENND1C G>A	19	6479025	6479025	G	A	DENND1C	c.219C>T	NM_024898.4	NP_079174.2:p.(Leu73=)	NC_000019.9:g.6479025G>A	(Likely) benign	1 lab	77d6d740a1
4:494336 PIGG TCA>T	4	494336	494340	TCA	T	PIGG	c.309_310del	NM_001127178.3	NP_001120650.1:p.(His103GlnfsTer5)	NC_000004.11:g.494339_494340del	VUS	1 lab	77d6e1696f
2:179554283 TTN A>G	2	179554283	179554283	A	G	TTN	c.31886T>C	NM_001267550.2	NP_001254479.2:p.(Ile10629Thr)	NC_000002.11:g.179554283A>G	VUS	1 lab	77d7c1102e
19:47844958 C5AR2 G>A	19	47844958	47844958	G	A	C5AR2	c.902G>A	NM_001271749.2	NP_001258678.1:p.(Arg301Gln)	NC_000019.9:g.47844958G>A	(Likely) benign	1 lab	77d92e9a6d
X:101857535 ARMCX5 A>G	X	101857535	101857535	A	G	ARMCX5	c.466A>G	NM_001168478.2	NP_001161950.1:p.(Thr156Ala)	NC_000023.10:g.101857535A>G	(Likely) benign	1 lab	77d9774ca1
1:16263992 SPEN A>AACAGCCGTTGTTTGTCCCAAC	1	16263992	16264014	A	AACAGCCGTTGTTTGTCCCAAC	SPEN	c.10363_10383dup	NM_015001.3	NP_055816.2:p.(Gln3455_Thr3461dup)	NC_000001.10:g.16263994_16264014dup	VUS	1 lab	77d9a7d8c1
14:104026280 BAG5 C>A	14	104026280	104026280	C	A	BAG5	c.1222G>T	NM_001015048.3	NP_001015048.1:p.(Ala408Ser)	NC_000014.8:g.104026280C>A	(Likely) benign	1 lab	77da288699
7:100366238 ZAN TACA>T	7	100366238	100366250	TACA	T	ZAN	c.5057_5059del	NM_003386.3	NP_003377.2:p.(Asn1686del)	NC_000007.13:g.100366248_100366250del	VUS	1 lab	77daf718e7
3:172165557 GHSR A>G	3	172165557	172165557	A	G	GHSR	c.647T>C	NM_198407.2	NP_940799.1:p.(Val216Ala)	NC_000003.11:g.172165557A>G	(Likely) benign	1 lab	77dc841699
7:100086099 NYAP1 C>T	7	100086099	100086099	C	T	NYAP1	c.755C>T	NM_173564.4	NP_775835.2:p.(Ser252Leu)	NC_000007.13:g.100086099C>T	VUS	1 lab	77dd230356
18:19029590 GREB1L G>A	18	19029590	19029590	G	A	GREB1L	c.1513G>A	NM_001142966.3	NP_001136438.1:p.(Gly505Arg)	NC_000018.9:g.19029590G>A	VUS	1 lab	77dd6d9acd
2:49190645 FSHR C>T	2	49190645	49190645	C	T	FSHR	c.1315G>A	NM_000145.4	NP_000136.2:p.(Gly439Arg)	NC_000002.11:g.49190645C>T	VUS	1 lab	2358d27ed1
13:92560243 GPC5 G>GAAGTCA	13	92560243	92560258	G	GAAGTCA	GPC5	c.1343_1348dup	NM_004466.6	NP_004457.1:p.(Val448_Lys449dup)	NC_000013.10:g.92560253_92560258dup	(Likely) benign	1 lab	77de2d6ec7
5:16474866 RETREG1 A>C	5	16474866	16474866	A	C	RETREG1	c.1478T>G	NM_001034850.3	NP_001030022.1:p.(Leu493Arg)	NC_000005.9:g.16474866A>C	VUS	1 lab	77df97c076
12:56583193 SMARCC2 G>C	12	56583193	56583193	G	C	SMARCC2	c.53C>G	NM_001330288.2	NP_001317217.1:p.(Ala18Gly)	NC_000012.11:g.56583193G>C	(Likely) benign	1 lab	77e163eca6
2:241706712 KIF1A CA>C	2	241706712	241706713	CA	C	KIF1A	c.1547del	NM_001244008.2	NP_001230937.1:p.(Leu516ArgfsTer25)	NC_000002.11:g.241706713del	VUS	1 lab	77e2a4d4ae
2:109347318 RANBP2 G>A	2	109347318	109347318	G	A	RANBP2	c.229G>A	NM_006267.5	NP_006258.3:p.(Asp77Asn)	NC_000002.11:g.109347318G>A	(Likely) benign	1 lab	77e2d649b0
19:12816217 TNPO2 A>G	19	12816217	12816217	A	G	TNPO2	c.1864-5T>C	NM_001382241.1	NP_001369170.1:p.?	NC_000019.9:g.12816217A>G	(Likely) benign	1 lab	77e46804eb
8:97243600 UQCRB C>T	8	97243600	97243600	C	T	UQCRB	c.259-240G>A	NM_006294.5	NP_006285.1:p.?	NC_000008.10:g.97243600C>T	(Likely) benign	1 lab	77e5eb3fc2
5:13886243 DNAH5 CCA>C	5	13886243	13886245	CCA	C	DNAH5	c.2578-7_2578-6del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886244_13886245del	(Likely) benign	1 lab	77e7a33d51
15:93485185 CHD2 G>A	15	93485185	93485185	G	A	CHD2	c.826G>A	NM_001271.4	NP_001262.3:p.(Ala276Thr)	NC_000015.9:g.93485185G>A	VUS	1 lab	77e7da7ab0
7:39991391 CDK13 C>T	7	39991391	39991391	C	T	CDK13	c.1151C>T	NM_003718.5	NP_003709.3:p.(Pro384Leu)	NC_000007.13:g.39991391C>T	VUS	1 lab	77e7e5047b
8:144990587 PLEC C>T	8	144990587	144990587	C	T	PLEC	c.13402G>A	NM_201384.3	NP_958786.1:p.(Ala4468Thr)	NC_000008.10:g.144990587C>T	(Likely) benign	1 lab	77e96ba798
X:31616224 DMD GTT>G	X	31616224	31616237	GTT	G	DMD	c.8217+29564_8217+29565del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31616236_31616237del	(Likely) benign	1 lab	77eabea2ce
11:17408536 KCNJ11 A>G	11	17408536	17408536	A	G	KCNJ11	c.1103T>C	NM_000525.4	NP_000516.3:p.(Leu368Pro)	NC_000011.9:g.17408536A>G	VUS	1 lab	77eb5068c4
6:117241515 RFX6 A>G	6	117241515	117241515	A	G	RFX6	c.1225A>G	NM_173560.4	NP_775831.2:p.(Met409Val)	NC_000006.11:g.117241515A>G	(Likely) benign	1 lab	77ecd0abbd
X:100104301 NOX1 G>A	X	100104301	100104301	G	A	NOX1	c.1411C>T	NM_007052.5	NP_008983.2:p.(Arg471Cys)	NC_000023.10:g.100104301G>A	VUS	1 lab	77ed5b5916
7:151849946 KMT2C T>C	7	151849946	151849946	T	C	KMT2C	c.12370A>G	NM_170606.3	NP_733751.2:p.(Met4124Val)	NC_000007.13:g.151849946T>C	(Likely) benign	1 lab	77ef15a170
19:42872599 MEGF8 C>G	19	42872599	42872599	C	G	MEGF8	c.6274-8C>G	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42872599C>G	(Likely) benign	1 lab	77ef947256
1:155252233 HCN3 A>G	1	155252233	155252233	A	G	HCN3	c.310A>G	NM_020897.3	NP_065948.1:p.(Met104Val)	NC_000001.10:g.155252233A>G	VUS	1 lab	77f2858064
17:41247770 BRCA1 G>T	17	41247770	41247770	G	T	BRCA1	c.670+93C>A	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41247770G>T	VUS	1 lab	24b4f2a658
2:25497896 DNMT3A T>C	2	25497896	25497896	T	C	DNMT3A	c.553A>G	NM_022552.5	NP_072046.2:p.(Met185Val)	NC_000002.11:g.25497896T>C	VUS	1 lab	77f34a53b2
3:139085592 COPB2 G>A	3	139085592	139085592	G	A	COPB2	c.1702C>T	NM_004766.3	NP_004757.1:p.(Pro568Ser)	NC_000003.11:g.139085592G>A	(Likely) benign	1 lab	77f4812c10
X:6451850 VCX3A T>C	X	6451850	6451850	T	C	VCX3A	c.497A>G	NM_016379.4	NP_057463.2:p.(Gln166Arg)	NC_000023.10:g.6451850T>C	(Likely) benign	1 lab	77f59d9a6e
20:61472005 COL9A3 C>T	20	61472005	61472005	C	T	COL9A3	c.1976C>T	NM_001853.4	NP_001844.3:p.(Pro659Leu)	NC_000020.10:g.61472005C>T	VUS	1 lab	77f86f2187
1:227172638 COQ8A T>C	1	227172638	227172638	T	C	COQ8A	c.1568T>C	NM_020247.5	NP_064632.2:p.(Ile523Thr)	NC_000001.10:g.227172638T>C	VUS	1 lab	77f8a6c1d7
3:137881430 DBR1 A>G	3	137881430	137881430	A	G	DBR1	c.942-6T>C	NM_016216.4	NP_057300.2:p.?	NC_000003.11:g.137881430A>G	VUS	1 lab	77f8a7e0a8
4:5586543 EVC2 C>T	4	5586543	5586543	C	T	EVC2	c.2864G>A	NM_147127.5	NP_667338.3:p.(Arg955Gln)	NC_000004.11:g.5586543C>T	VUS	1 lab	77f8d4b327
3:49070047 QRICH1 T>C	3	49070047	49070047	T	C	QRICH1	c.2047+8A>G	NM_198880.3	NP_942581.1:p.?	NC_000003.11:g.49070047T>C	(Likely) benign	1 lab	77f90d6bc2
18:53253358 TCF4 A>G	18	53253358	53253358	A	G	TCF4	c.73-775T>C	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53253358A>G	(Likely) benign	1 lab	77fa9bec42
X:41031084 USP9X A>G	X	41031084	41031084	A	G	USP9X	c.3028-7A>G	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.41031084A>G	(Likely) benign	1 lab	77faefaae1
19:9453249 ZNF559 TCA>T	19	9453249	9453254	TCA	T	ZNF559	c.1126_1127del	NM_032497.3	NP_115886.1:p.(Thr376TrpfsTer2)	NC_000019.9:g.9453253_9453254del	VUS	1 lab	77fb295d44
20:50418829 SALL4 G>A	20	50418829	50418829	G	A	SALL4	c.119C>T	NM_020436.5	NP_065169.1:p.(Ala40Val)	NC_000020.10:g.50418829G>A	(Likely) benign	1 lab	77fc875529
17:71202957 COG1 GTAAAGGC>G	17	71202957	71202965	GTAAAGGC	G	COG1	c.2729+3_2729+9del	NM_018714.3	NP_061184.1:p.?	NC_000017.10:g.71202959_71202965del	VUS	1 lab	77fd2db026
17:48668891 CACNA1G C>T	17	48668891	48668891	C	T	CACNA1G	c.2549C>T	NM_018896.5	NP_061496.2:p.(Ala850Val)	NC_000017.10:g.48668891C>T	VUS	1 lab	78002bdd38
9:94712199 ROR2 G>C	9	94712199	94712199	G	C	ROR2	c.47C>G	NM_004560.4	NP_004551.2:p.(Pro16Arg)	NC_000009.11:g.94712199G>C	(Likely) benign	1 lab	78003876cd
1:120277384 PHGDH C>T	1	120277384	120277384	C	T	PHGDH	c.638C>T	NM_006623.4	NP_006614.2:p.(Thr213Met)	NC_000001.10:g.120277384C>T	VUS	1 lab	7800ea8ae8
12:124107311 EIF2B1 G>A	12	124107311	124107311	G	A	EIF2B1	c.628-3C>T	NM_001414.4	NP_001405.1:p.?	NC_000012.11:g.124107311G>A	VUS	1 lab	7801a792b6
9:140611325 EHMT1 C>G	9	140611325	140611325	C	G	EHMT1	c.333C>G	NM_024757.5	NP_079033.4:p.(Ala111=)	NC_000009.11:g.140611325C>G	(Likely) benign	1 lab	78020eefba
12:121432123 HNF1A C>G	12	121432123	121432123	C	G	HNF1A	c.870C>G	NM_000545.8	NP_000536.6:p.(Pro290=)	NC_000012.11:g.121432123C>G	(Likely) benign	1 lab	78030ab13d
9:117110139 AKNA C>T	9	117110139	117110139	C	T	AKNA	c.3263G>A	NM_001317950.2	NP_001304879.1:p.(Arg1088His)	NC_000009.11:g.117110139C>T	(Likely) benign	1 lab	78060e85e2
9:101536289 ANKS6 G>T	9	101536289	101536289	G	T	ANKS6	c.1691C>A	NM_173551.5	NP_775822.3:p.(Pro564His)	NC_000009.11:g.101536289G>T	VUS	1 lab	235976e9e4
20:57415754 GNAS-AS1 A>G	20	57415754	57415754	A	G	GNAS-AS1	n.672+1238T>C	NR_185847.1		NC_000020.10:g.57415754A>G	(Likely) benign	1 lab	7809fa8960
16:1412274 GNPTG C>A	16	1412274	1412274	C	A	GNPTG	c.479C>A	NM_032520.5	NP_115909.1:p.(Ala160Glu)	NC_000016.9:g.1412274C>A	VUS	1 lab	780bfb644c
3:48508145 TREX1 G>A	3	48508145	48508145	G	A	TREX1	c.91G>A	NM_033629.6	NP_338599.1:p.(Val31Ile)	NC_000003.11:g.48508145G>A	VUS	1 lab	780c4c8024
5:172660089 NKX2-5 A>G	5	172660089	172660089	A	G	NKX2-5	c.458T>C	NM_004387.4	NP_004378.1:p.(Leu153Pro)	NC_000005.9:g.172660089A>G	VUS	1 lab	780e297edf
1:74957901 TNNI3K G>A	1	74957901	74957901	G	A	TNNI3K	c.2302G>A	NM_015978.3	NP_057062.1:p.(Glu768Lys)	NC_000001.10:g.74957901G>A	(Likely) pathogenic	1 lab	235ee7a421
20:60894820 LAMA5 A>C	20	60894820	60894820	A	C	LAMA5	c.6791T>G	NM_005560.6	NP_005551.3:p.(Leu2264Trp)	NC_000020.10:g.60894820A>C	VUS	1 lab	780f2ee3de
5:171766605 SH3PXD2B T>C	5	171766605	171766605	T	C	SH3PXD2B	c.1504A>G	NM_001017995.3	NP_001017995.1:p.(Met502Val)	NC_000005.9:g.171766605T>C	VUS	1 lab	7824b10a16
9:140610825 EHMT1 T>TGG	9	140610825	140610830	T	TGG	EHMT1	c.86-249_86-248dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610829_140610830dup	(Likely) benign	1 lab	780fc2e441
2:74327571 TET3 A>G	2	74327571	74327571	A	G	TET3	c.3656A>G	NM_001287491.2	NP_001274420.1:p.(Lys1219Arg)	NC_000002.11:g.74327571A>G	VUS	1 lab	780fdc0b36
19:54652009 CNOT3 A>G	19	54652009	54652009	A	G	CNOT3	c.1021A>G	NM_014516.4	NP_055331.1:p.(Asn341Asp)	NC_000019.9:g.54652009A>G	VUS	1 lab	780fde51c5
10:49931602 WDFY4 T>C	10	49931602	49931602	T	C	WDFY4	c.581T>C	NM_001394531.1	NP_001381460.1:p.(Met194Thr)	NC_000010.10:g.49931602T>C	VUS	1 lab	78115a29cb
16:30977364 SETD1A C>T	16	30977364	30977364	C	T	SETD1A	c.2162C>T	NM_014712.3	NP_055527.1:p.(Pro721Leu)	NC_000016.9:g.30977364C>T	(Likely) benign	1 lab	7811ea8d72
3:133664028 SLCO2A1 C>G	3	133664028	133664028	C	G	SLCO2A1	c.1372G>C	NM_005630.3	NP_005621.2:p.(Val458Leu)	NC_000003.11:g.133664028C>G	VUS	1 lab	781311fd4a
11:119169066 CBL A>G	11	119169066	119169066	A	G	CBL	c.2252-2A>G	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119169066A>G	VUS	1 lab	781837821d
17:48700983 CACNA1G G>A	17	48700983	48700983	G	A	CACNA1G	c.6061-285G>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48700983G>A	VUS	1 lab	781bbe7eb9
7:156518192 LMBR1 G>C	7	156518192	156518192	G	C	LMBR1	c.1095C>G	NM_022458.4	NP_071903.2:p.(Gly365=)	NC_000007.13:g.156518192G>C	(Likely) benign	1 lab	781d88dee7
7:1784594 ELFN1 G>A	7	1784594	1784594	G	A	ELFN1	c.362G>A	NM_001128636.4	NP_001122108.1:p.(Arg121His)	NC_000007.13:g.1784594G>A	VUS	1 lab	781f56c27b
7:44189624 GCK C>T	7	44189624	44189624	C	T	GCK	c.523G>A	NM_000162.5	NP_000153.1:p.(Gly175Arg)	NC_000007.13:g.44189624C>T	(Likely) pathogenic	1 lab	7820dda684
21:47855836 PCNT G>A	21	47855836	47855836	G	A	PCNT	c.8771G>A	NM_006031.6	NP_006022.3:p.(Arg2924His)	NC_000021.8:g.47855836G>A	(Likely) benign	1 lab	78217833cc
3:49568353 DAG1 C>G	3	49568353	49568353	C	G	DAG1	c.409C>G	NM_004393.6	NP_004384.5:p.(Arg137Gly)	NC_000003.11:g.49568353C>G	(Likely) benign	1 lab	7821b3b65e
21:35229085 ITSN1 G>T	21	35229085	35229085	G	T	ITSN1	c.3707G>T	NM_003024.3	NP_003015.2:p.(Arg1236Ile)	NC_000021.8:g.35229085G>T	VUS	1 lab	7823fa500f
19:55087528 LILRA2 C>T	19	55087528	55087528	C	T	LILRA2	c.1207C>T	NM_001130917.3	NP_001124389.2:p.(Pro403Ser)	NC_000019.9:g.55087528C>T	(Likely) benign	1 lab	7825ae08cf
2:39213296 SOS1 T>C	2	39213296	39213296	T	C	SOS1	c.3671A>G	NM_005633.4	NP_005624.2:p.(Asp1224Gly)	NC_000002.11:g.39213296T>C	VUS	1 lab	782607a1a2
21:46888674 COL18A1 G>A	21	46888674	46888674	G	A	COL18A1	c.625G>A	NM_001379500.1	NP_001366429.1:p.(Gly209Arg)	NC_000021.8:g.46888674G>A	VUS	1 lab	78261cadc0
10:104835860 CNNM2 C>A	10	104835860	104835860	C	A	CNNM2	c.2251C>A	NM_017649.5	NP_060119.3:p.(Pro751Thr)	NC_000010.10:g.104835860C>A	VUS	1 lab	78273df7b7
1:100316614 AGL C>T	1	100316614	100316614	C	T	AGL	c.16C>T	NM_000028.2	NP_000019.2:p.(Gln6Ter)	NC_000001.10:g.100316614C>T	(Likely) pathogenic	1 lab	235f437c3e
3:43121242 POMGNT2 C>T	3	43121242	43121242	C	T	POMGNT2	c.1682G>A	NM_032806.6	NP_116195.2:p.(Arg561His)	NC_000003.11:g.43121242C>T	(Likely) pathogenic	1 lab	782b269598
19:10244351 DNMT1 T>C	19	10244351	10244351	T	C	DNMT1	c.4891A>G	NM_001130823.3	NP_001124295.1:p.(Lys1631Glu)	NC_000019.9:g.10244351T>C	VUS	1 lab	782dd89957
X:100088354 CSTF2 A>G	X	100088354	100088354	A	G	CSTF2	c.1393A>G	NM_001325.3	NP_001316.1:p.(Met465Val)	NC_000023.10:g.100088354A>G	VUS	1 lab	782e7a4a3d
19:17397353 ANKLE1 C>G	19	17397353	17397353	C	G	ANKLE1	c.1840C>G	NM_152363.6	NP_689576.6:p.(Arg614Gly)	NC_000019.9:g.17397353C>G	(Likely) benign	1 lab	783153a557
8:144994508 PLEC C>G	8	144994508	144994508	C	G	PLEC	c.9481G>C	NM_201384.3	NP_958786.1:p.(Gly3161Arg)	NC_000008.10:g.144994508C>G	(Likely) benign	1 lab	7831c1dd3a
16:1614155 IFT140 AG>A	16	1614155	1614157	AG	A	IFT140	c.1909del	NM_014714.4	NP_055529.2:p.(Leu637SerfsTer7)	NC_000016.9:g.1614157del	(Likely) pathogenic	1 lab	7831d2a47a
9:139911198 ABCA2 T>C	9	139911198	139911198	T	C	ABCA2	c.2759-8A>G	NM_001606.5	NP_001597.2:p.?	NC_000009.11:g.139911198T>C	(Likely) benign	1 lab	7832f78eec
5:90085544 ADGRV1 G>A	5	90085544	90085544	G	A	ADGRV1	c.13919G>A	NM_032119.4	NP_115495.3:p.(Gly4640Glu)	NC_000005.9:g.90085544G>A	VUS	1 lab	7833f8806c
20:44592515 ZNF335 A>C	20	44592515	44592515	A	C	ZNF335	c.1217T>G	NM_022095.4	NP_071378.1:p.(Val406Gly)	NC_000020.10:g.44592515A>C	VUS	1 lab	78378ca0d9
22:41574632 EP300 A>G	22	41574632	41574632	A	G	EP300	c.6917A>G	NM_001429.4	NP_001420.2:p.(Gln2306Arg)	NC_000022.10:g.41574632A>G	(Likely) benign	1 lab	7837b0609a
7:6026988 PMS2 G>GGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	7	6026988	6026989	G	GGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	PMS2	c.1407_1408insGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTC	NM_000535.7	NP_000526.2:p.(Pro470ValfsTer3)	NC_000007.13:g.6026988_6026989insGACGCCTTTGTCAGAGATGGCACCTGAAGTGCTAGAAGAC	(Likely) pathogenic	1 lab	783941c806
5:37182857 CPLANE1 C>A	5	37182857	37182857	C	A	CPLANE1	c.5421+5G>T	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37182857C>A	(Likely) benign	1 lab	7839ce4268
16:58620554 CNOT1 T>C	16	58620554	58620554	T	C	CNOT1	c.532A>G	NM_016284.5	NP_057368.3:p.(Ile178Val)	NC_000016.9:g.58620554T>C	(Likely) benign	1 lab	783a3965c1
9:139749270 MAMDC4 G>A	9	139749270	139749270	G	A	MAMDC4	c.991G>A	NM_206920.3	NP_996803.2:p.(Glu331Lys)	NC_000009.11:g.139749270G>A	VUS	1 lab	783a610f3d
1:34630559 CSMD2 A>T	1	34630559	34630559	A	T	CSMD2	c.140T>A	NM_001281956.2	NP_001268885.1:p.(Leu47Gln)	NC_000001.10:g.34630559A>T	(Likely) benign	1 lab	783cd48ba9
12:40687426 LRRK2 G>C	12	40687426	40687426	G	C	LRRK2	c.2769G>C	NM_198578.4	NP_940980.4:p.(Gln923His)	NC_000012.11:g.40687426G>C	VUS	1 lab	783d1ce880
14:23313595 MMP14 C>T	14	23313595	23313595	C	T	MMP14	c.1027C>T	NM_004995.4	NP_004986.1:p.(Arg343Trp)	NC_000014.8:g.23313595C>T	VUS	1 lab	783f42dce1
7:30672003 GARS1 C>A	7	30672003	30672003	C	A	GARS1	c.2044C>A	NM_002047.4	NP_002038.2:p.(His682Asn)	NC_000007.13:g.30672003C>A	VUS	1 lab	78402ecc09
15:49663506 FAM227B G>T	15	49663506	49663506	G	T	FAM227B	c.1103C>A	NM_152647.3	NP_689860.2:p.(Ala368Glu)	NC_000015.9:g.49663506G>T	(Likely) benign	1 lab	78403d5b51
1:27878404 AHDC1 G>C	1	27878404	27878404	G	C	AHDC1	c.223C>G	NM_001371928.1	NP_001358857.1:p.(Pro75Ala)	NC_000001.10:g.27878404G>C	VUS	1 lab	7840dd2c47
20:50241846 ATP9A G>A	20	50241846	50241846	G	A	ATP9A	c.1901C>T	NM_006045.3	NP_006036.1:p.(Thr634Met)	NC_000020.10:g.50241846G>A	VUS	1 lab	7841053c91
4:6303580 WFS1 C>T	4	6303580	6303580	C	T	WFS1	c.2058C>T	NM_006005.3	NP_005996.2:p.(Thr686=)	NC_000004.11:g.6303580C>T	VUS	1 lab	78410b6b30
21:37418199 SETD4 G>C	21	37418199	37418199	G	C	SETD4	c.407C>G	NM_017438.5	NP_059134.1:p.(Ala136Gly)	NC_000021.8:g.37418199G>C	VUS	1 lab	784168a251
7:83023614 SEMA3E C>T	7	83023614	83023614	C	T	SEMA3E	c.1499G>A	NM_012431.3	NP_036563.1:p.(Arg500Gln)	NC_000007.13:g.83023614C>T	VUS	1 lab	7841fcc8ff
12:49579771 TUBA1A G>A	12	49579771	49579771	G	A	TUBA1A	c.378C>T	NM_006009.4	NP_006000.2:p.(Ala126=)	NC_000012.11:g.49579771G>A	(Likely) benign	1 lab	78437a7854
X:127185470 ACTRT1 C>T	X	127185470	127185470	C	T	ACTRT1	c.716G>A	NM_138289.4	NP_612146.1:p.(Gly239Glu)	NC_000023.10:g.127185470C>T	VUS	1 lab	784418044e
17:44788344 NSF CAAG>C	17	44788344	44788351	CAAG	C	NSF	c.1491_1493del	NM_006178.4	NP_006169.2:p.(Glu497del)	NC_000017.10:g.44788349_44788351del	VUS	1 lab	7844e974c7
9:13107017 MPDZ C>T	9	13107017	13107017	C	T	MPDZ	c.6160G>A	NM_001378778.1	NP_001365707.1:p.(Val2054Ile)	NC_000009.11:g.13107017C>T	VUS	1 lab	784566de94
9:131185469 CERCAM G>A	9	131185469	131185469	G	A	CERCAM	c.353G>A	NM_016174.5	NP_057258.3:p.(Arg118Lys)	NC_000009.11:g.131185469G>A	VUS	1 lab	78474d2365
X:55514270 USP51 A>G	X	55514270	55514270	A	G	USP51	c.1103T>C	NM_201286.4	NP_958443.1:p.(Leu368Pro)	NC_000023.10:g.55514270A>G	VUS	1 lab	78481f6b4d
17:78069197 CCDC40 G>A	17	78069197	78069197	G	A	CCDC40	c.2968G>A	NM_017950.4	NP_060420.2:p.(Asp990Asn)	NC_000017.10:g.78069197G>A	VUS	1 lab	784824d212
4:114195804 ANK2 A>G	4	114195804	114195804	A	G	ANK2	c.1682A>G	NM_001148.6	NP_001139.3:p.(Lys561Arg)	NC_000004.11:g.114195804A>G	VUS	1 lab	78490e09e0
10:264900 ZMYND11 A>G	10	264900	264900	A	G	ZMYND11	c.277-2235A>G	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.264900A>G	VUS	1 lab	784938ccb4
14:20916969 OSGEP C>T	14	20916969	20916969	C	T	OSGEP	c.559G>A	NM_017807.4	NP_060277.1:p.(Gly187Ser)	NC_000014.8:g.20916969C>T	VUS	1 lab	784b74de9a
1:110613052 ALX3 GAGGTAGGGCTCCAGGGGCCCGC>G	1	110613052	110613077	GAGGTAGGGCTCCAGGGGCCCGC	G	ALX3	c.161_182del	NM_006492.3	NP_006483.2:p.(Cys54SerfsTer132)	NC_000001.10:g.110613056_110613077del	VUS	1 lab	784d72af41
6:99916419 USP45 CT>C	6	99916419	99916426	CT	C	USP45	c.1008del	NM_001346022.3	NP_001332951.1:p.(Val337SerfsTer9)	NC_000006.11:g.99916426del	(Likely) benign	1 lab	784e26633f
1:103453242 COL11A1 C>G	1	103453242	103453242	C	G	COL11A1	c.2449G>C	NM_001854.4	NP_001845.3:p.(Gly817Arg)	NC_000001.10:g.103453242C>G	VUS	1 lab	784ee377b3
5:138728256 PROB1 G>A	5	138728256	138728256	G	A	PROB1	c.2515C>T	NM_001161546.2	NP_001155018.1:p.(Pro839Ser)	NC_000005.9:g.138728256G>A	(Likely) benign	1 lab	784f000a95
19:38995393 RYR1 C>T	19	38995393	38995393	C	T	RYR1	c.8073C>T	NM_000540.3	NP_000531.2:p.(Tyr2691=)	NC_000019.9:g.38995393C>T	(Likely) benign	1 lab	784f11a4cd
X:154065977 F8 G>C	X	154065977	154065977	G	C	F8	c.6951C>G	NM_000132.4	NP_000123.1:p.(Asp2317Glu)	NC_000023.10:g.154065977G>C	(Likely) benign	1 lab	784ff6c522
2:220434963 OBSL1 G>T	2	220434963	220434963	G	T	OBSL1	c.992C>A	NM_015311.3	NP_056126.1:p.(Ala331Asp)	NC_000002.11:g.220434963G>T	VUS	1 lab	7850bd0263
1:149895728 SF3B4 C>T	1	149895728	149895728	C	T	SF3B4	c.1087+5G>A	NM_005850.5	NP_005841.1:p.?	NC_000001.10:g.149895728C>T	VUS	1 lab	7850c29490
19:629653 POLRMT C>G	19	629653	629653	C	G	POLRMT	c.709G>C	NM_005035.4	NP_005026.3:p.(Asp237His)	NC_000019.9:g.629653C>G	VUS	1 lab	785165a085
17:74383637 SPHK1 G>T	17	74383637	74383637	G	T	SPHK1	c.1125G>T	NM_001142601.2	NP_001136073.1:p.(Gln375His)	NC_000017.10:g.74383637G>T	VUS	1 lab	7854afa3e0
17:5462826 NLRP1 T>G	17	5462826	5462826	T	G	NLRP1	c.1190A>C	NM_033004.4	NP_127497.1:p.(Gln397Pro)	NC_000017.10:g.5462826T>G	VUS	1 lab	78577e38ab
2:27686053 IFT172 G>C	2	27686053	27686053	G	C	IFT172	c.1938-5C>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27686053G>C	(Likely) benign	1 lab	7859acd4b0
15:75981860 CSPG4 C>T	15	75981860	75981860	C	T	CSPG4	c.1546G>A	NM_001897.5	NP_001888.2:p.(Asp516Asn)	NC_000015.9:g.75981860C>T	VUS	1 lab	7859f13268
17:10542437 MYH3 C>T	17	10542437	10542437	C	T	MYH3	c.3172G>A	NM_002470.4	NP_002461.2:p.(Gly1058Arg)	NC_000017.10:g.10542437C>T	VUS	1 lab	785c1f4df6
22:51159375 SHANK3 C>A	22	51159375	51159375	C	A	SHANK3	c.3339C>A	NM_001372044.2	NP_001358973.1:p.(Ser1113Arg)	NC_000022.10:g.51159375C>A	VUS	1 lab	785d8d9946
17:36091594 HNF1B T>C	17	36091594	36091594	T	C	HNF1B	c.1037A>G	NM_000458.4	NP_000449.1:p.(Lys346Arg)	NC_000017.10:g.36091594T>C	VUS	1 lab	785dad2144
10:78713555 KCNMA1 T>C	10	78713555	78713555	T	C	KCNMA1	c.2484+4A>G	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78713555T>C	VUS	1 lab	785edc97a1
3:14220371 LSM3 A>G	3	14220371	14220371	A	G	LSM3	c.11A>G	NM_014463.3	NP_055278.1:p.(Asp4Gly)	NC_000003.11:g.14220371A>G	(Likely) benign	1 lab	78611d2e4d
16:778404 HAGHL A>C	16	778404	778404	A	C	HAGHL	c.377A>C	NM_032304.4	NP_115680.1:p.(Asp126Ala)	NC_000016.9:g.778404A>C	VUS	1 lab	7861694957
5:180043430 FLT4 C>A	5	180043430	180043430	C	A	FLT4	c.3156G>T	NM_182925.5	NP_891555.2:p.(Lys1052Asn)	NC_000005.9:g.180043430C>A	(Likely) pathogenic	1 lab	786216225f
12:48381432 COL2A1 G>T	12	48381432	48381432	G	T	COL2A1	c.1183C>A	NM_001844.5	NP_001835.3:p.(Pro395Thr)	NC_000012.11:g.48381432G>T	VUS	1 lab	7862394007
5:134059261 SEC24A A>G	5	134059261	134059261	A	G	SEC24A	c.3068A>G	NM_021982.3	NP_068817.1:p.(Asp1023Gly)	NC_000005.9:g.134059261A>G	(Likely) benign	1 lab	7862b5065b
17:39552772 KRT31 C>CGCA	17	39552772	39552776	C	CGCA	KRT31	c.485_487dup	NM_002277.3	NP_002268.2:p.(Leu162dup)	NC_000017.10:g.39552774_39552776dup	(Likely) benign	1 lab	78650ac315
9:135946721 CEL G>A	9	135946721	135946721	G	A	CEL	c.1832G>A	NM_001807.6	NP_001798.3:p.(Gly611Glu)	NC_000009.11:g.135946721G>A	(Likely) benign	1 lab	7865672d1b
17:7838371 CNTROB C>T	17	7838371	7838371	C	T	CNTROB	c.502C>T	NM_053051.5	NP_444279.2:p.(Arg168Cys)	NC_000017.10:g.7838371C>T	(Likely) benign	1 lab	786575872e
X:41205477 DDX3X G>A	X	41205477	41205477	G	A	DDX3X	c.1316-5G>A	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41205477G>A	(Likely) benign	1 lab	7865fc54e2
1:39913168 MACF1 A>G	1	39913168	39913168	A	G	MACF1	c.19670A>G	NM_001394062.1	NP_001380991.1:p.(Asn6557Ser)	NC_000001.10:g.39913168A>G	VUS	1 lab	7867745205
17:39222033 KRTAP2-4 G>C	17	39222033	39222033	G	C	KRTAP2-4	c.65C>G	NM_033184.4	NP_149440.1:p.(Pro22Arg)	NC_000017.10:g.39222033G>C	(Likely) benign	1 lab	7868802500
5:139228105 NRG2 G>T	5	139228105	139228105	G	T	NRG2	c.1950C>A	NM_004883.3	NP_004874.1:p.(His650Gln)	NC_000005.9:g.139228105G>T	(Likely) benign	1 lab	78689ef544
14:36157958 RALGAPA1 G>A	14	36157958	36157958	G	A	RALGAPA1	c.3659C>T	NM_001346249.2	NP_001333178.1:p.(Thr1220Ile)	NC_000014.8:g.36157958G>A	VUS	1 lab	7869a439a0
13:110831298 COL4A1 AG>A	13	110831298	110831303	AG	A	COL4A1	c.2429del	NM_001845.6	NP_001836.3:p.(Pro810LeufsTer15)	NC_000013.10:g.110831303del	(Likely) pathogenic	1 lab	786b0dc2f0
14:24773448 NOP9 C>T	14	24773448	24773448	C	T	NOP9	c.1612C>T	NM_174913.3	NP_777573.1:p.(Arg538Cys)	NC_000014.8:g.24773448C>T	VUS	1 lab	786d880936
6:152841722 SYNE1 A>G	6	152841722	152841722	A	G	SYNE1	c.226-45T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152841722A>G	(Likely) benign	1 lab	786d899aea
3:49759486 GMPPB C>T	3	49759486	49759486	C	T	GMPPB	c.863G>A	NM_021971.4	NP_068806.2:p.(Arg288Gln)	NC_000003.11:g.49759486C>T	(Likely) benign	1 lab	786f911995
6:3225322 TUBB2B T>G	6	3225322	3225322	T	G	TUBB2B	c.1001A>C	NM_178012.5	NP_821080.1:p.(Gln334Pro)	NC_000006.11:g.3225322T>G	VUS	1 lab	7870bbe8cd
9:95237024 CENPP C>CTCATCATCA	9	95237024	95237068	C	CTCATCATCA	CENPP	c.564+94919_564+94927dup	NM_001012267.3	NP_001012267.1:p.?	NC_000009.11:g.95237060_95237068dup	VUS	1 lab	787183ed59
20:43723696 KCNS1 G>A	20	43723696	43723696	G	A	KCNS1	c.1396C>T	NM_001322799.2	NP_001309728.1:p.(Arg466Cys)	NC_000020.10:g.43723696G>A	(Likely) benign	1 lab	7871a38424
16:67683528 CARMIL2 C>T	16	67683528	67683528	C	T	CARMIL2	c.1919+6C>T	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67683528C>T	(Likely) benign	1 lab	7872cd8579
18:44585966 KATNAL2 G>A	18	44585966	44585966	G	A	KATNAL2	c.490G>A	NM_001387690.1	NP_001374619.1:p.(Gly164Ser)	NC_000018.9:g.44585966G>A	VUS	1 lab	787451bc99
8:27660816 ESCO2 CTT>C	8	27660816	27660820	CTT	C	ESCO2	c.1674-4_1674-3del	NM_001017420.3	NP_001017420.1:p.?	NC_000008.10:g.27660819_27660820del	(Likely) benign	1 lab	7877e49e8e
14:71511944 PCNX1 A>G	14	71511944	71511944	A	G	PCNX1	c.3962A>G	NM_014982.3	NP_055797.2:p.(His1321Arg)	NC_000014.8:g.71511944A>G	VUS	1 lab	7879619326
4:56236152 SRD5A3 T>TC	4	56236152	56236153	T	TC	SRD5A3	c.852dup	NM_024592.5	NP_078868.1:p.(Phe285LeufsTer3)	NC_000004.11:g.56236153dup	(Likely) pathogenic	1 lab	7879cbeb73
19:7166414 INSR G>T	19	7166414	7166414	G	T	INSR	c.1612C>A	NM_000208.4	NP_000199.2:p.(Pro538Thr)	NC_000019.9:g.7166414G>T	VUS	1 lab	78bb84620f
15:89398966 ACAN C>A	15	89398966	89398966	C	A	ACAN	c.3150C>A	NM_001369268.1	NP_001356197.1:p.(Ser1050Arg)	NC_000015.9:g.89398966C>A	VUS	1 lab	787bfc6072
6:31605016 PRRC2A T>C	6	31605016	31605016	T	C	PRRC2A	c.6248T>C	NM_004638.4	NP_004629.3:p.(Phe2083Ser)	NC_000006.11:g.31605016T>C	(Likely) benign	1 lab	787ca5b4e0
20:44681621 SLC12A5 C>T	20	44681621	44681621	C	T	SLC12A5	c.2403C>T	NM_020708.5	NP_065759.1:p.(Gly801=)	NC_000020.10:g.44681621C>T	(Likely) benign	1 lab	24b9960b99
2:162280466 TBR1 C>A	2	162280466	162280466	C	A	TBR1	c.1777C>A	NM_006593.4	NP_006584.1:p.(Arg593Ser)	NC_000002.11:g.162280466C>A	VUS	1 lab	787debaa5a
3:4459713 SUMF1 G>A	3	4459713	4459713	G	A	SUMF1	c.706C>T	NM_182760.4	NP_877437.2:p.(Arg236Ter)	NC_000003.11:g.4459713G>A	(Likely) pathogenic	1 lab	787f859bcc
X:71708853 HDAC8 G>A	X	71708853	71708853	G	A	HDAC8	c.667C>T	NM_018486.3	NP_060956.1:p.(Arg223Trp)	NC_000023.10:g.71708853G>A	(Likely) pathogenic	1 lab	7880e0d7db
17:40379535 STAT5B G>A	17	40379535	40379535	G	A	STAT5B	c.285+12C>T	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40379535G>A	(Likely) benign	1 lab	7882f6fb61
1:27023367 ARID1A C>T	1	27023367	27023367	C	T	ARID1A	c.473C>T	NM_006015.6	NP_006006.3:p.(Pro158Leu)	NC_000001.10:g.27023367C>T	VUS	1 lab	788341b602
8:145737591 RECQL4 G>A	8	145737591	145737591	G	A	RECQL4	c.3172C>T	NM_004260.4	NP_004251.4:p.(Arg1058Cys)	NC_000008.10:g.145737591G>A	VUS	1 lab	78842305a8
X:153073996 PDZD4 G>A	X	153073996	153073996	G	A	PDZD4	c.115C>T	NM_001303512.2	NP_001290441.1:p.(Arg39Cys)	NC_000023.10:g.153073996G>A	VUS	1 lab	7884464d79
11:2869088 KCNQ1 G>GC	11	2869088	2869095	G	GC	KCNQ1	c.1893dup	NM_000218.3	NP_000209.2:p.(Arg632GlnfsTer20)	NC_000011.9:g.2869095dup	(Likely) pathogenic	1 lab	7886fb4bad
2:241757189 KIF1A C>T	2	241757189	241757189	C	T	KIF1A	c.-61+2350G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241757189C>T	(Likely) benign	1 lab	78872465f5
X:54319340 WNK3 T>C	X	54319340	54319340	T	C	WNK3	c.2018A>G	NM_020922.5	NP_065973.2:p.(Gln673Arg)	NC_000023.10:g.54319340T>C	VUS	1 lab	788a7cd048
8:144994212 PLEC A>T	8	144994212	144994212	A	T	PLEC	c.9777T>A	NM_201384.3	NP_958786.1:p.(Ser3259=)	NC_000008.10:g.144994212A>T	(Likely) benign	1 lab	788bbf2f76
2:166866370 SCN1A TAAC>T	2	166866370	166866375	TAAC	T	SCN1A	c.3880-22_3880-20del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166866373_166866375del	(Likely) benign	1 lab	788c88f2dd
10:79396156 KCNMA1 G>A	10	79396156	79396156	G	A	KCNMA1	c.378+867C>T	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396156G>A	(Likely) benign	1 lab	788dcd62d9
17:12921082 ELAC2 C>G	17	12921082	12921082	C	G	ELAC2	c.183G>C	NM_018127.7	NP_060597.4:p.(Gln61His)	NC_000017.10:g.12921082C>G	VUS	1 lab	788f1350a1
19:5719831 LONP1 C>A	19	5719831	5719831	C	A	LONP1	c.313G>T	NM_004793.4	NP_004784.2:p.(Glu105Ter)	NC_000019.9:g.5719831C>A	(Likely) pathogenic	1 lab	789197dfab
3:178937462 PIK3CA G>A	3	178937462	178937462	G	A	PIK3CA	c.1850G>A	NM_006218.4	NP_006209.2:p.(Arg617Gln)	NC_000003.11:g.178937462G>A	VUS	1 lab	7892c3e291
1:36564600 COL8A2 G>T	1	36564600	36564600	G	T	COL8A2	c.682C>A	NM_005202.4	NP_005193.1:p.(Pro228Thr)	NC_000001.10:g.36564600G>T	VUS	1 lab	7893c3c3b9
1:983038 AGRN G>A	1	983038	983038	G	A	AGRN	c.3602G>A	NM_198576.4	NP_940978.2:p.(Arg1201His)	NC_000001.10:g.983038G>A	VUS	1 lab	78948e2b5a
18:44560257 KATNAL2 G>A	18	44560257	44560257	G	A	KATNAL2	c.52-12571G>A	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44560257G>A	VUS	1 lab	7894a5bd8b
14:21871663 CHD8 GAGA>G	14	21871663	21871669	GAGA	G	CHD8	c.3464_3466del	NM_001170629.2	NP_001164100.1:p.(Phe1155del)	NC_000014.8:g.21871667_21871669del	VUS	1 lab	7894bc0edd
1:27876276 AHDC1 C>T	1	27876276	27876276	C	T	AHDC1	c.2351G>A	NM_001371928.1	NP_001358857.1:p.(Gly784Asp)	NC_000001.10:g.27876276C>T	(Likely) benign	1 lab	7897e16d01
13:111158800 COL4A2 A>G	13	111158800	111158800	A	G	COL4A2	c.4441A>G	NM_001846.4	NP_001837.2:p.(Met1481Val)	NC_000013.10:g.111158800A>G	(Likely) benign	1 lab	7898935523
17:7814797 CHD3 C>T	17	7814797	7814797	C	T	CHD3	c.5897C>T	NM_001005273.3	NP_001005273.1:p.(Pro1966Leu)	NC_000017.10:g.7814797C>T	(Likely) benign	1 lab	7898ed32f4
17:76168022 SYNGR2 C>A	17	76168022	76168022	C	A	SYNGR2	c.*5C>A	NM_004710.7	NP_004701.1:p.?	NC_000017.10:g.76168022C>A	(Likely) benign	1 lab	789988dcd6
17:65908818 BPTF A>T	17	65908818	65908818	A	T	BPTF	c.4818A>T	NM_182641.4	NP_872579.2:p.(Glu1606Asp)	NC_000017.10:g.65908818A>T	(Likely) benign	1 lab	789a2a570d
10:50946001 OGDHL G>A	10	50946001	50946001	G	A	OGDHL	c.2509C>T	NM_018245.3	NP_060715.2:p.(Arg837Cys)	NC_000010.10:g.50946001G>A	VUS	1 lab	789a897c02
10:127462855 MMP21 T>C	10	127462855	127462855	T	C	MMP21	c.242A>G	NM_147191.1	NP_671724.1:p.(Lys81Arg)	NC_000010.10:g.127462855T>C	VUS	1 lab	789af57692
2:231036866 SP110 G>A	2	231036866	231036866	G	A	SP110	c.1731C>T	NM_080424.4	NP_536349.3:p.(Cys577=)	NC_000002.11:g.231036866G>A	(Likely) benign	1 lab	2362197ad0
19:56001700 SSC5D C>T	19	56001700	56001700	C	T	SSC5D	c.511C>T	NM_001144950.2	NP_001138422.1:p.(Arg171Trp)	NC_000019.9:g.56001700C>T	(Likely) benign	1 lab	789bc1f645
X:18192321 BEND2 T>C	X	18192321	18192321	T	C	BEND2	c.1810A>G	NM_153346.5	NP_699177.2:p.(Arg604Gly)	NC_000023.10:g.18192321T>C	VUS	1 lab	789f014dbb
16:1270868 CACNA1H G>A	16	1270868	1270868	G	A	CACNA1H	c.6936G>A	NM_021098.3	NP_066921.2:p.(Met2312Ile)	NC_000016.9:g.1270868G>A	(Likely) benign	1 lab	78a0c2f513
2:216257813 FN1 C>T	2	216257813	216257813	C	T	FN1	c.3910G>A	NM_212482.4	NP_997647.2:p.(Ala1304Thr)	NC_000002.11:g.216257813C>T	(Likely) benign	1 lab	78a2188ce4
7:36438949 ANLN G>A	7	36438949	36438949	G	A	ANLN	c.434G>A	NM_018685.5	NP_061155.2:p.(Arg145His)	NC_000007.13:g.36438949G>A	(Likely) benign	1 lab	24ba91b80b
X:23953328 CXorf58 G>A	X	23953328	23953328	G	A	CXorf58	c.571G>A	NM_152761.3	NP_689974.2:p.(Asp191Asn)	NC_000023.10:g.23953328G>A	VUS	1 lab	78a33d2245
2:166847794 SCN1A A>C	2	166847794	166847794	A	C	SCN1A	c.5991T>G	NM_001165963.4	NP_001159435.1:p.(His1997Gln)	NC_000002.11:g.166847794A>C	(Likely) benign	1 lab	78a3ff67ef
7:143016995 CLCN1 T>A	7	143016995	143016995	T	A	CLCN1	c.301+27T>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143016995T>A	(Likely) benign	1 lab	24bc221e42
2:39156114 ARHGEF33 C>G	2	39156114	39156114	C	G	ARHGEF33	c.142C>G	NM_001145451.5	NP_001138923.2:p.(Gln48Glu)	NC_000002.11:g.39156114C>G	VUS	1 lab	78a8234764
X:26235774 MAGEB5 GGAGGATTCA>G	X	26235774	26235783	GGAGGATTCA	G	MAGEB5	c.357_365del	NM_001271752.1	NP_001258681.1:p.(Arg120_His122del)	NC_000023.10:g.26235775_26235783del	VUS	1 lab	78a86c8faf
3:52537010 STAB1 C>T	3	52537010	52537010	C	T	STAB1	c.584-5C>T	NM_015136.3	NP_055951.2:p.?	NC_000003.11:g.52537010C>T	(Likely) benign	1 lab	78a903eb84
2:179395734 TTN A>G	2	179395734	179395734	A	G	TTN	c.105608T>C	NM_001267550.2	NP_001254479.2:p.(Val35203Ala)	NC_000002.11:g.179395734A>G	(Likely) benign	1 lab	236299f4c0
5:132270238 AFF4 G>GTGT	5	132270238	132270242	G	GTGT	AFF4	c.516_518dup	NM_014423.4	NP_055238.1:p.(Glu172_His173insGln)	NC_000005.9:g.132270240_132270242dup	VUS	1 lab	78a95830d2
2:179300871 PRKRA C>T	2	179300871	179300871	C	T	PRKRA	c.784+1G>A	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179300871C>T	VUS	1 lab	796e583a65
16:2153777 PKD1 G>A	16	2153777	2153777	G	A	PKD1	c.8281C>T	NM_001009944.3	NP_001009944.3:p.(Arg2761Cys)	NC_000016.9:g.2153777G>A	(Likely) benign	1 lab	78aa39a3ff
X:49958555 AKAP4 A>G	X	49958555	49958555	A	G	AKAP4	c.809T>C	NM_003886.3	NP_003877.2:p.(Ile270Thr)	NC_000023.10:g.49958555A>G	VUS	1 lab	78aa7e421c
X:10181808 CLCN4 C>T	X	10181808	10181808	C	T	CLCN4	c.1664C>T	NM_001830.4	NP_001821.2:p.(Ala555Val)	NC_000023.10:g.10181808C>T	(Likely) pathogenic	1 lab	23629a6bfe
9:136273902 REXO4 C>T	9	136273902	136273902	C	T	REXO4	c.1064G>A	NM_020385.4	NP_065118.2:p.(Ser355Asn)	NC_000009.11:g.136273902C>T	(Likely) benign	1 lab	78af4442a3
2:170038761 LRP2 C>T	2	170038761	170038761	C	T	LRP2	c.9914G>A	NM_004525.3	NP_004516.2:p.(Arg3305His)	NC_000002.11:g.170038761C>T	(Likely) benign	1 lab	78c2cbf130
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	1 lab	78b086b335
22:41543901 EP300 C>T	22	41543901	41543901	C	T	EP300	c.2192C>T	NM_001429.4	NP_001420.2:p.(Pro731Leu)	NC_000022.10:g.41543901C>T	VUS	1 lab	78b0a2ad30
8:117864952 RAD21 TA>T	8	117864952	117864966	TA	T	RAD21	c.1162-6del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117864966del	(Likely) benign	1 lab	78b297ac45
17:80332901 UTS2R TG>T	17	80332901	80332903	TG	T	UTS2R	c.703del	NM_018949.3	NP_061822.1:p.(Ala235ProfsTer65)	NC_000017.10:g.80332903del	VUS	1 lab	78b3cc74f5
10:103345860 POLL G>A	10	103345860	103345860	G	A	POLL	c.169C>T	NM_001174084.2	NP_001167555.1:p.(Arg57Trp)	NC_000010.10:g.103345860G>A	VUS	1 lab	78b43114ba
15:101924540 PCSK6 G>A	15	101924540	101924540	G	A	PCSK6	c.1401C>T	NM_002570.5	NP_002561.1:p.(Gly467=)	NC_000015.9:g.101924540G>A	VUS	1 lab	78b49c221c
7:73474912 ELN A>G	7	73474912	73474912	A	G	ELN	c.1747+81A>G	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73474912A>G	VUS	1 lab	78b4ac1983
12:65115439 GNS T>C	12	65115439	65115439	T	C	GNS	c.1355A>G	NM_002076.4	NP_002067.1:p.(Tyr452Cys)	NC_000012.11:g.65115439T>C	VUS	1 lab	78b790fd98
2:211168267 MYL1 A>G	2	211168267	211168267	A	G	MYL1	c.133-1028T>C	NM_079420.3	NP_524144.1:p.?	NC_000002.11:g.211168267A>G	(Likely) benign	1 lab	78bba93f0d
12:109971274 UBE3B G>T	12	109971274	109971274	G	T	UBE3B	c.2926G>T	NM_130466.4	NP_569733.2:p.(Val976Leu)	NC_000012.11:g.109971274G>T	VUS	1 lab	78bc3cdc67
15:91456641 MAN2A2 C>T	15	91456641	91456641	C	T	MAN2A2	c.2718+5C>T	NM_006122.4	NP_006113.2:p.?	NC_000015.9:g.91456641C>T	(Likely) benign	1 lab	78bd1ed17a
2:11765378 GREB1 G>A	2	11765378	11765378	G	A	GREB1	c.4246G>A	NM_014668.4	NP_055483.2:p.(Asp1416Asn)	NC_000002.11:g.11765378G>A	VUS	1 lab	78c04837f3
1:9777117 PIK3CD C>T	1	9777117	9777117	C	T	PIK3CD	c.881C>T	NM_005026.5	NP_005017.3:p.(Pro294Leu)	NC_000001.10:g.9777117C>T	VUS	1 lab	236661801a
2:85780387 GGCX G>C	2	85780387	85780387	G	C	GGCX	c.1123C>G	NM_000821.7	NP_000812.2:p.(Leu375Val)	NC_000002.11:g.85780387G>C	VUS	1 lab	78c3618967
17:79479055 ACTG1 C>A	17	79479055	79479055	C	A	ACTG1	c.237G>T	NM_001614.5	NP_001605.1:p.(Trp79Cys)	NC_000017.10:g.79479055C>A	VUS	1 lab	78c3848c08
19:17389834 BABAM1 A>G	19	17389834	17389834	A	G	BABAM1	c.967A>G	NM_014173.4	NP_054892.2:p.(Ile323Val)	NC_000019.9:g.17389834A>G	(Likely) benign	1 lab	78c53f6ff1
2:242684122 D2HGDH A>G	2	242684122	242684122	A	G	D2HGDH	c.685-2A>G	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242684122A>G	(Likely) pathogenic	1 lab	78c5960490
X:19377757 PDHA1 A>C	X	19377757	19377757	A	C	PDHA1	c.1159A>C	NM_000284.4	NP_000275.1:p.(Lys387Gln)	NC_000023.10:g.19377757A>C	(Likely) benign	1 lab	78c6e6c1d9
18:74091719 ZNF516 C>T	18	74091719	74091719	C	T	ZNF516	c.2351G>A	NM_014643.4	NP_055458.1:p.(Arg784His)	NC_000018.9:g.74091719C>T	VUS	1 lab	78c929d852
19:14274077 ADGRL1 G>A	19	14274077	14274077	G	A	ADGRL1	c.536C>T	NM_014921.5	NP_055736.2:p.(Thr179Met)	NC_000019.9:g.14274077G>A	VUS	1 lab	78cf3e19a1
15:101719170 CHSY1 A>G	15	101719170	101719170	A	G	CHSY1	c.832T>C	NM_014918.5	NP_055733.2:p.(Tyr278His)	NC_000015.9:g.101719170A>G	(Likely) benign	1 lab	78d0539782
11:17453799 ABCC8 G>C	11	17453799	17453799	G	C	ABCC8	c.1631-8C>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17453799G>C	VUS	1 lab	78d0aae353
2:44531302 SLC3A1 A>G	2	44531302	44531302	A	G	SLC3A1	c.1157A>G	NM_000341.4	NP_000332.2:p.(Tyr386Cys)	NC_000002.11:g.44531302A>G	VUS	1 lab	78d1ca2329
1:156106170 LMNA C>T	1	156106170	156106170	C	T	LMNA	c.1323C>T	NM_170707.4	NP_733821.1:p.(Ala441=)	NC_000001.10:g.156106170C>T	(Likely) benign	1 lab	78d2d72b68
19:5131234 KDM4B C>T	19	5131234	5131234	C	T	KDM4B	c.1463C>T	NM_015015.3	NP_055830.1:p.(Pro488Leu)	NC_000019.9:g.5131234C>T	(Likely) benign	1 lab	78d2ec8c9c
16:2159923 PKD1 C>T	16	2159923	2159923	C	T	PKD1	c.5245G>A	NM_001009944.3	NP_001009944.3:p.(Val1749Ile)	NC_000016.9:g.2159923C>T	VUS	1 lab	78d35d8413
22:42609456 TCF20 T>C	22	42609456	42609456	T	C	TCF20	c.1856A>G	NM_001378418.1	NP_001365347.1:p.(Lys619Arg)	NC_000022.10:g.42609456T>C	VUS	1 lab	78d3e5fdae
7:33102267 NT5C3A C>T	7	33102267	33102267	C	T	NT5C3A	c.51G>A	NM_001002010.5	NP_001002010.2:p.(Val17=)	NC_000007.13:g.33102267C>T	VUS	1 lab	78d400c710
15:90628309 IDH2 G>C	15	90628309	90628309	G	C	IDH2	c.1102C>G	NM_002168.4	NP_002159.2:p.(Pro368Ala)	NC_000015.9:g.90628309G>C	VUS	1 lab	78d431b58b
20:34025407 GDF5 G>A	20	34025407	34025407	G	A	GDF5	c.302C>T	NM_000557.5	NP_000548.2:p.(Pro101Leu)	NC_000020.10:g.34025407G>A	(Likely) benign	1 lab	78d4a4ac48
1:16264500 SPEN C>A	1	16264500	16264500	C	A	SPEN	c.10703C>A	NM_015001.3	NP_055816.2:p.(Thr3568Lys)	NC_000001.10:g.16264500C>A	(Likely) benign	1 lab	78d5c3d1df
13:96261747 DZIP1 C>G	13	96261747	96261747	C	G	DZIP1	c.1384G>C	NM_198968.4	NP_945319.1:p.(Ala462Pro)	NC_000013.10:g.96261747C>G	VUS	1 lab	2368cc69b3
1:228503711 OBSCN G>A	1	228503711	228503711	G	A	OBSCN	c.16047G>A	NM_001386125.1	NP_001373054.1:p.(Glu5349=)	NC_000001.10:g.228503711G>A	(Likely) benign	1 lab	78d69c7001
14:67147860 GPHN C>T	14	67147860	67147860	C	T	GPHN	c.100C>T	NM_020806.5	NP_065857.1:p.(Arg34Cys)	NC_000014.8:g.67147860C>T	VUS	1 lab	78d92daaae
5:71496114 MAP1B C>T	5	71496114	71496114	C	T	MAP1B	c.6932C>T	NM_005909.5	NP_005900.2:p.(Ala2311Val)	NC_000005.9:g.71496114C>T	(Likely) benign	1 lab	78da1920be
3:113658795 GRAMD1C CT>C	3	113658795	113658796	CT	C	GRAMD1C	c.1755del	NM_017577.5	NP_060047.3:p.(Ala586LeufsTer15)	NC_000003.11:g.113658796del	VUS	1 lab	78da91613f
14:78365533 ADCK1 G>T	14	78365533	78365533	G	T	ADCK1	c.673G>T	NM_020421.4	NP_065154.2:p.(Asp225Tyr)	NC_000014.8:g.78365533G>T	VUS	1 lab	78db4c2cc7
3:4829680 ITPR1 G>A	3	4829680	4829680	G	A	ITPR1	c.6665G>A	NM_001378452.1	NP_001365381.1:p.(Ser2222Asn)	NC_000003.11:g.4829680G>A	(Likely) benign	1 lab	78de9908a8
5:140898515 DIAPH1 T>G	5	140898515	140898515	T	G	DIAPH1	c.3662-1940A>C	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140898515T>G	VUS	1 lab	78def25b73
5:55251987 IL6ST T>C	5	55251987	55251987	T	C	IL6ST	c.1133A>G	NM_002184.4	NP_002175.2:p.(Gln378Arg)	NC_000005.9:g.55251987T>C	VUS	1 lab	78e14244f1
7:97493654 ASNS A>C	7	97493654	97493654	A	C	ASNS	c.404T>G	NM_001673.5	NP_001664.3:p.(Leu135Arg)	NC_000007.13:g.97493654A>C	VUS	1 lab	78e37b589b
17:3402272 ASPA G>A	17	3402272	3402272	G	A	ASPA	c.832G>A	NM_000049.4	NP_000040.1:p.(Val278Met)	NC_000017.10:g.3402272G>A	VUS	1 lab	78e3973720
1:214543035 PTPN14 C>G	1	214543035	214543035	C	G	PTPN14	c.3037-1G>C	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214543035C>G	VUS	1 lab	791b6dcaad
7:1786307 ELFN1 C>A	7	1786307	1786307	C	A	ELFN1	c.2075C>A	NM_001128636.4	NP_001122108.1:p.(Ala692Asp)	NC_000007.13:g.1786307C>A	VUS	1 lab	78e4a34058
3:71390718 FOXP1 G>A	3	71390718	71390718	G	A	FOXP1	c.-73+17583C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71390718G>A	(Likely) benign	1 lab	78e583831f
X:6452024 VCX3A C>A	X	6452024	6452024	C	A	VCX3A	c.323G>T	NM_016379.4	NP_057463.2:p.(Ser108Ile)	NC_000023.10:g.6452024C>A	(Likely) benign	1 lab	78e6455864
12:21981987 ABCC9 T>C	12	21981987	21981987	T	C	ABCC9	c.3574A>G	NM_020297.4	NP_064693.2:p.(Thr1192Ala)	NC_000012.11:g.21981987T>C	(Likely) benign	1 lab	78e6a6ecbc
9:131004539 DNM1 A>G	9	131004539	131004539	A	G	DNM1	c.1586A>G	NM_004408.4	NP_004399.2:p.(Asn529Ser)	NC_000009.11:g.131004539A>G	VUS	1 lab	78e9107e62
22:40257887 ENTHD1 T>C	22	40257887	40257887	T	C	ENTHD1	c.475A>G	NM_152512.4	NP_689725.2:p.(Lys159Glu)	NC_000022.10:g.40257887T>C	(Likely) benign	1 lab	78ebd94ff6
1:22165881 HSPG2 A>G	1	22165881	22165881	A	G	HSPG2	c.9872T>C	NM_005529.7	NP_005520.4:p.(Ile3291Thr)	NC_000001.10:g.22165881A>G	VUS	1 lab	78ec89aff6
6:31637092 CSNK2B C>A	6	31637092	31637092	C	A	CSNK2B	c.368-4C>A	NM_001320.7	NP_001311.3:p.?	NC_000006.11:g.31637092C>A	VUS	1 lab	78ecd115cd
11:6591914 DNHD1 A>C	11	6591914	6591914	A	C	DNHD1	c.13172A>C	NM_144666.3	NP_653267.2:p.(Glu4391Ala)	NC_000011.9:g.6591914A>C	VUS	1 lab	78ed3af63b
14:50640465 SOS2 T>G	14	50640465	50640465	T	G	SOS2	c.1068+707A>C	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50640465T>G	(Likely) benign	1 lab	78ed62238f
3:58154214 FLNB A>C	3	58154214	58154214	A	C	FLNB	c.7246A>C	NM_001457.4	NP_001448.2:p.(Thr2416Pro)	NC_000003.11:g.58154214A>C	(Likely) benign	1 lab	78ee981e3d
11:64067169 KCNK4 C>T	11	64067169	64067169	C	T	KCNK4	c.1153C>T	NM_033310.3	NP_201567.1:p.(Arg385Cys)	NC_000011.9:g.64067169C>T	VUS	1 lab	78eec6a2ba
6:117215202 RFX6 G>A	6	117215202	117215202	G	A	RFX6	c.619G>A	NM_173560.4	NP_775831.2:p.(Val207Ile)	NC_000006.11:g.117215202G>A	(Likely) benign	1 lab	78f07ab3b4
3:182812353 MCCC1 C>A	3	182812353	182812353	C	A	MCCC1	c.130G>T	NM_020166.5	NP_064551.3:p.(Ala44Ser)	NC_000003.11:g.182812353C>A	VUS	1 lab	78f07ab866
7:30325165 ZNRF2 CGCCGCGGCG>C	7	30325165	30325186	CGCCGCGGCG	C	ZNRF2	c.205_213del	NM_147128.4	NP_667339.1:p.(Ala69_Ala71del)	NC_000007.13:g.30325178_30325186del	VUS	1 lab	78f1f8f80e
11:17424204 ABCC8 G>C	11	17424204	17424204	G	C	ABCC8	c.3650+4C>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17424204G>C	(Likely) benign	1 lab	78f20956e6
7:150655195 KCNH2 C>T	7	150655195	150655195	C	T	KCNH2	c.868G>A	NM_000238.4	NP_000229.1:p.(Ala290Thr)	NC_000007.13:g.150655195C>T	VUS	1 lab	78f3db8ebc
8:144995573 PLEC GC>AT	8	144995573	144995574	GC	AT	PLEC	c.8415_8416delinsAT	NM_201384.3	NP_958786.1:p.(Leu2805_Leu2806=)	NC_000008.10:g.144995573_144995574delinsAT	(Likely) benign	1 lab	78f513cefa
22:19964986 ARVCF G>A	22	19964986	19964986	G	A	ARVCF	c.1822C>T	NM_001670.3	NP_001661.1:p.(Arg608Cys)	NC_000022.10:g.19964986G>A	VUS	1 lab	78f5734710
16:1510489 CLCN7 GAGA>G	16	1510489	1510494	GAGA	G	CLCN7	c.521_523del	NM_001287.6	NP_001278.1:p.(Phe174del)	NC_000016.9:g.1510492_1510494del	VUS	1 lab	78f6bb4703
1:44605205 KLF18 G>A	1	44605205	44605205	G	A	KLF18	c.2099C>T	NM_001358438.1	NP_001345367.1:p.(Thr700Met)	NC_000001.10:g.44605205G>A	VUS	1 lab	78f6ff3b7a
8:144991404 PLEC G>A	8	144991404	144991404	G	A	PLEC	c.12585C>T	NM_201384.3	NP_958786.1:p.(Ile4195=)	NC_000008.10:g.144991404G>A	(Likely) benign	1 lab	78f7cd5f29
11:65822589 SF3B2 C>G	11	65822589	65822589	C	G	SF3B2	c.301C>G	NM_006842.3	NP_006833.2:p.(Pro101Ala)	NC_000011.9:g.65822589C>G	VUS	1 lab	78f8c81c0d
1:39845082 MACF1 C>T	1	39845082	39845082	C	T	MACF1	c.13484C>T	NM_001394062.1	NP_001380991.1:p.(Thr4495Ile)	NC_000001.10:g.39845082C>T	VUS	1 lab	78fa62a63e
7:44283013 CAMK2B CT>C	7	44283013	44283014	CT	C	CAMK2B	c.517+10del	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44283014del	(Likely) benign	1 lab	78fca82b07
19:39406750 SARS2 C>T	19	39406750	39406750	C	T	SARS2	c.1274G>A	NM_017827.4	NP_060297.1:p.(Cys425Tyr)	NC_000019.9:g.39406750C>T	VUS	1 lab	78fe151f16
19:36339016 NPHS1 C>T	19	36339016	36339016	C	T	NPHS1	c.1367G>A	NM_004646.4	NP_004637.1:p.(Arg456Gln)	NC_000019.9:g.36339016C>T	VUS	1 lab	78ffbf3b06
4:187178473 KLKB1 G>A	4	187178473	187178473	G	A	KLKB1	c.1679G>A	NM_000892.5	NP_000883.2:p.(Arg560Gln)	NC_000004.11:g.187178473G>A	(Likely) benign	1 lab	236b3dae8a
11:640108 DRD4 CA>C	11	640108	640109	CA	C	DRD4	c.860del	NM_000797.4	NP_000788.2:p.(Gln287ArgfsTer59)	NC_000011.9:g.640109del	VUS	1 lab	79028a6437
3:46414943 CCR5 TACAGTCAGTATCAATTCTGGAAGAATTTCCAG>T	3	46414943	46414978	TACAGTCAGTATCAATTCTGGAAGAATTTCCAG	T	CCR5	c.554_585del	NM_001394783.1	NP_001381712.1:p.(Ser185IlefsTer32)	NC_000003.11:g.46414947_46414978del	(Likely) benign	1 lab	7902dbc0ee
12:121880171 KDM2B G>A	12	121880171	121880171	G	A	KDM2B	c.3073C>T	NM_032590.5	NP_115979.3:p.(Arg1025Trp)	NC_000012.11:g.121880171G>A	(Likely) benign	1 lab	7903eac7b6
11:108137775 ATM T>A	11	108137775	108137775	T	A	ATM	c.2467-123T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108137775T>A	(Likely) benign	1 lab	24c49a4e64
8:28574958 EXTL3 C>T	8	28574958	28574958	C	T	EXTL3	c.1382C>T	NM_001440.4	NP_001431.1:p.(Pro461Leu)	NC_000008.10:g.28574958C>T	VUS	1 lab	79057f8440
19:38230060 ZNF573 C>T	19	38230060	38230060	C	T	ZNF573	c.1331G>A	NM_001172690.2	NP_001166161.1:p.(Cys444Tyr)	NC_000019.9:g.38230060C>T	VUS	1 lab	7906342cd6
10:76790706 KAT6B C>T	10	76790706	76790706	C	T	KAT6B	c.6124C>T	NM_012330.4	NP_036462.2:p.(Pro2042Ser)	NC_000010.10:g.76790706C>T	(Likely) benign	1 lab	7906605ee0
19:42874333 MEGF8 G>T	19	42874333	42874333	G	T	MEGF8	c.6835-8G>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42874333G>T	(Likely) benign	1 lab	790757bcb0
6:129794402 LAMA2 T>C	6	129794402	129794402	T	C	LAMA2	c.7344T>C	NM_000426.4	NP_000417.3:p.(Asn2448=)	NC_000006.11:g.129794402T>C	(Likely) benign	1 lab	790896a2c9
12:69090592 NUP107 G>T	12	69090592	69090592	G	T	NUP107	c.449-7G>T	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69090592G>T	(Likely) benign	1 lab	790a4d8156
17:74738355 MFSD11 G>C	17	74738355	74738355	G	C	MFSD11	c.437G>C	NM_001242532.5	NP_001229461.1:p.(Ser146Thr)	NC_000017.10:g.74738355G>C	VUS	1 lab	790ad6c1ba
9:80880422 CEP78 C>T	9	80880422	80880422	C	T	CEP78	c.1760C>T	NM_001330691.3	NP_001317620.1:p.(Pro587Leu)	NC_000009.11:g.80880422C>T	VUS	1 lab	790b445b96
X:117892145 IL13RA1 G>A	X	117892145	117892145	G	A	IL13RA1	c.616G>A	NM_001560.3	NP_001551.1:p.(Val206Ile)	NC_000023.10:g.117892145G>A	(Likely) benign	1 lab	790c824390
10:127496038 UROS T>A	10	127496038	127496038	T	A	UROS	c.338A>T	NM_000375.3	NP_000366.1:p.(Asp113Val)	NC_000010.10:g.127496038T>A	(Likely) benign	1 lab	79118c8134
3:182733319 MCCC1 C>TT	3	182733319	182733319	C	TT	MCCC1	c.2085delinsAA	NM_020166.5	NP_064551.3:p.(Val697SerfsTer19)	NC_000003.11:g.182733319delinsTT	VUS	1 lab	7912104f28
21:44840224 SIK1 CGGG>C	21	44840224	44840227	CGGG	C	SIK1	c.859_861del	NM_173354.5	NP_775490.2:p.(Pro287del)	NC_000021.8:g.44840225_44840227del	(Likely) benign	1 lab	7913d26d15
2:136111018 ZRANB3 A>C	2	136111018	136111018	A	C	ZRANB3	c.359+2T>G	NM_032143.4	NP_115519.2:p.?	NC_000002.11:g.136111018A>C	VUS	1 lab	79187731e7
13:32910633 BRCA2 A>G	13	32910633	32910633	A	G	BRCA2	c.2141A>G	NM_000059.3	NP_000050.2:p.(Glu714Gly)	NC_000013.10:g.32910633A>G	(Likely) benign	1 lab	24c8a2b8e0
22:45960864 FBLN1 G>T	22	45960864	45960864	G	T	FBLN1	c.1698-9527G>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45960864G>T	(Likely) benign	1 lab	79195a65e0
2:55461320 RPS27A T>C	2	55461320	55461320	T	C	RPS27A	c.169T>C	NM_002954.6	NP_002945.1:p.(Ser57Pro)	NC_000002.11:g.55461320T>C	VUS	1 lab	791bd9f3da
15:99465362 IGF1R C>T	15	99465362	99465362	C	T	IGF1R	c.2202-15C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99465362C>T	(Likely) benign	1 lab	791bf5d836
16:15811130 MYH11 C>T	16	15811130	15811130	C	T	MYH11	c.5371G>A	NM_002474.3	NP_002465.1:p.(Glu1791Lys)	NC_000016.9:g.15811130C>T	VUS	1 lab	791c39fb7a
X:102755200 RAB40A T>C	X	102755200	102755200	T	C	RAB40A	c.485A>G	NM_080879.3	NP_543155.2:p.(Asn162Ser)	NC_000023.10:g.102755200T>C	(Likely) benign	1 lab	791c7813b6
3:111697987 ABHD10 C>T	3	111697987	111697987	C	T	ABHD10	c.79C>T	NM_018394.4	NP_060864.1:p.(Pro27Ser)	NC_000003.11:g.111697987C>T	(Likely) benign	1 lab	791d2b732b
2:152419271 NEB T>C	2	152419271	152419271	T	C	NEB	c.18745A>G	NM_001164508.2	NP_001157980.2:p.(Asn6249Asp)	NC_000002.11:g.152419271T>C	(Likely) benign	1 lab	791fe747ce
X:24380837 SUPT20HL1 A>G	X	24380837	24380837	A	G	SUPT20HL1	c.-41A>G	NM_001136234.3	NP_001129706.3:p.?	NC_000023.10:g.24380837A>G	(Likely) benign	1 lab	791ff16645
11:9200509 DENND5A G>A	11	9200509	9200509	G	A	DENND5A	c.1567C>T	NM_015213.4	NP_056028.2:p.(Arg523Cys)	NC_000011.9:g.9200509G>A	VUS	1 lab	792183ef40
2:44541068 SLC3A1 A>G	2	44541068	44541068	A	G	SLC3A1	c.1595A>G	NM_000341.4	NP_000332.2:p.(Asp532Gly)	NC_000002.11:g.44541068A>G	VUS	1 lab	79226aaf44
17:7814232 CHD3 G>A	17	7814232	7814232	G	A	CHD3	c.5822G>A	NM_001005273.3	NP_001005273.1:p.(Gly1941Glu)	NC_000017.10:g.7814232G>A	(Likely) benign	1 lab	792297abcc
4:170347298 NEK1 T>G	4	170347298	170347298	T	G	NEK1	c.2973A>C	NM_001199397.3	NP_001186326.1:p.(Ile991=)	NC_000004.11:g.170347298T>G	(Likely) benign	1 lab	7922c586c9
5:60628656 ZSWIM6 C>T	5	60628656	60628656	C	T	ZSWIM6	c.557C>T	NM_020928.2	NP_065979.1:p.(Ala186Val)	NC_000005.9:g.60628656C>T	VUS	1 lab	7923f7d97e
15:56403130 RFX7 G>C	15	56403130	56403130	G	C	RFX7	c.402-7262C>G	NM_022841.7	NP_073752.6:p.?	NC_000015.9:g.56403130G>C	VUS	1 lab	7924890307
11:120831727 GRIK4 C>T	11	120831727	120831727	C	T	GRIK4	c.1984C>T	NM_014619.5	NP_055434.2:p.(Gln662Ter)	NC_000011.9:g.120831727C>T	VUS	1 lab	7924bc2dfc
12:7046496 ATN1 C>T	12	7046496	7046496	C	T	ATN1	c.2066C>T	NM_001940.4	NP_001931.2:p.(Ser689Leu)	NC_000012.11:g.7046496C>T	(Likely) benign	1 lab	7926243ee2
15:75985469 CSPG4 A>C	15	75985469	75985469	A	C	CSPG4	c.194T>G	NM_001897.5	NP_001888.2:p.(Leu65Arg)	NC_000015.9:g.75985469A>C	(Likely) benign	1 lab	7927ba3593
12:53342951 KRT18 G>A	12	53342951	53342951	G	A	KRT18	c.-7G>A	NM_000224.3	NP_000215.1:p.?	NC_000012.11:g.53342951G>A	VUS	1 lab	79288cea35
8:17838213 PCM1 G>T	8	17838213	17838213	G	T	PCM1	c.4057G>T	NM_006197.4	NP_006188.4:p.(Glu1353Ter)	NC_000008.10:g.17838213G>T	(Likely) benign	1 lab	7929ac4d41
1:151400463 POGZ T>C	1	151400463	151400463	T	C	POGZ	c.914A>G	NM_015100.4	NP_055915.2:p.(Lys305Arg)	NC_000001.10:g.151400463T>C	(Likely) benign	1 lab	792bc1ac2a
6:152529285 SYNE1 C>T	6	152529285	152529285	C	T	SYNE1	c.22646G>A	NM_182961.4	NP_892006.3:p.(Arg7549His)	NC_000006.11:g.152529285C>T	VUS	1 lab	792bf4e3a6
17:74017793 EVPL T>A	17	74017793	74017793	T	A	EVPL	c.877A>T	NM_001988.4	NP_001979.2:p.(Met293Leu)	NC_000017.10:g.74017793T>A	VUS	1 lab	792bffd4c6
5:38904528 OSMR G>A	5	38904528	38904528	G	A	OSMR	c.1208G>A	NM_003999.3	NP_003990.1:p.(Arg403Gln)	NC_000005.9:g.38904528G>A	(Likely) benign	1 lab	792c3d0794
1:176734798 PAPPA2 C>T	1	176734798	176734798	C	T	PAPPA2	c.4152-4C>T	NM_020318.3	NP_064714.2:p.?	NC_000001.10:g.176734798C>T	(Likely) benign	1 lab	792d82ab8d
19:7150520 INSR G>A	19	7150520	7150520	G	A	INSR	c.2255C>T	NM_000208.4	NP_000199.2:p.(Ala752Val)	NC_000019.9:g.7150520G>A	VUS	1 lab	792df1b3d1
20:62038112 KCNQ2 G>A	20	62038112	62038112	G	A	KCNQ2	c.2504C>T	NM_172107.4	NP_742105.1:p.(Ala835Val)	NC_000020.10:g.62038112G>A	(Likely) benign	1 lab	792e07df1f
11:9200515 DENND5A C>T	11	9200515	9200515	C	T	DENND5A	c.1561G>A	NM_015213.4	NP_056028.2:p.(Ala521Thr)	NC_000011.9:g.9200515C>T	(Likely) benign	1 lab	792e150e37
10:50959962 OGDHL C>G	10	50959962	50959962	C	G	OGDHL	c.660G>C	NM_018245.3	NP_060715.2:p.(Trp220Cys)	NC_000010.10:g.50959962C>G	(Likely) benign	1 lab	792ea6a3e8
1:231114542 TTC13 A>AAGC	1	231114542	231114563	A	AAGC	TTC13	c.32_34dup	NM_024525.5	NP_078801.3:p.(Cys11dup)	NC_000001.10:g.231114561_231114563dup	VUS	1 lab	792f09587a
22:26422926 MYO18B T>C	22	26422926	26422926	T	C	MYO18B	c.6986T>C	NM_032608.7	NP_115997.5:p.(Ile2329Thr)	NC_000022.10:g.26422926T>C	VUS	1 lab	79305640d8
19:41201953 COQ8B G>A	19	41201953	41201953	G	A	COQ8B	c.1150C>T	NM_024876.4	NP_079152.3:p.(Leu384=)	NC_000019.9:g.41201953G>A	(Likely) benign	1 lab	24d452f219
17:26727724 SARM1 T>AC	17	26727724	26727724	T	AC	SARM1	c.*4421delinsAAC	NM_015077.4	NP_055892.2:p.?	NC_000017.10:g.26727724delinsAC	(Likely) benign	1 lab	7933c67fff
3:4718441 ITPR1 A>G	3	4718441	4718441	A	G	ITPR1	c.2923A>G	NM_001378452.1	NP_001365381.1:p.(Ile975Val)	NC_000003.11:g.4718441A>G	VUS	1 lab	79343924e6
19:18899236 COMP C>T	19	18899236	18899236	C	T	COMP	c.850G>A	NM_000095.3	NP_000086.2:p.(Glu284Lys)	NC_000019.9:g.18899236C>T	VUS	1 lab	793451bfd6
8:144992077 PLEC G>A	8	144992077	144992077	G	A	PLEC	c.11912C>T	NM_201384.3	NP_958786.1:p.(Ala3971Val)	NC_000008.10:g.144992077G>A	VUS	1 lab	793661a12b
15:89400362 ACAN G>C	15	89400362	89400362	G	C	ACAN	c.4546G>C	NM_001369268.1	NP_001356197.1:p.(Glu1516Gln)	NC_000015.9:g.89400362G>C	(Likely) benign	1 lab	7936d44b3b
13:46732781 LCP1 G>GA	13	46732781	46732785	G	GA	LCP1	c.233dup	NM_002298.5	NP_002289.2:p.(His79ProfsTer13)	NC_000013.10:g.46732785dup	VUS	1 lab	793aab69ae
X:86068191 DACH2 A>C	X	86068191	86068191	A	C	DACH2	c.1448A>C	NM_053281.3	NP_444511.1:p.(Glu483Ala)	NC_000023.10:g.86068191A>C	VUS	1 lab	793af8fe69
18:31319328 ASXL3 T>C	18	31319328	31319328	T	C	ASXL3	c.1960T>C	NM_030632.3	NP_085135.1:p.(Ser654Pro)	NC_000018.9:g.31319328T>C	VUS	1 lab	793afff889
18:42532159 SETBP1 C>T	18	42532159	42532159	C	T	SETBP1	c.2854C>T	NM_015559.3	NP_056374.2:p.(Gln952Ter)	NC_000018.9:g.42532159C>T	(Likely) pathogenic	1 lab	793c085b01
7:2578230 BRAT1 C>A	7	2578230	2578230	C	A	BRAT1	c.1939G>T	NM_152743.4	NP_689956.2:p.(Asp647Tyr)	NC_000007.13:g.2578230C>A	VUS	1 lab	793d0bb1b5
1:240371111 FMN2 C>T	1	240371111	240371111	C	T	FMN2	c.2999C>T	NM_020066.5	NP_064450.3:p.(Pro1000Leu)	NC_000001.10:g.240371111C>T	VUS	1 lab	793d51848c
19:5694866 LONP1 C>T	19	5694866	5694866	C	T	LONP1	c.2060G>A	NM_004793.4	NP_004784.2:p.(Ser687Asn)	NC_000019.9:g.5694866C>T	(Likely) benign	1 lab	793dab0b83
17:61601605 KCNH6 A>C	17	61601605	61601605	A	C	KCNH6	c.182A>C	NM_001278919.2	NP_001265848.1:p.(Gln61Pro)	NC_000017.10:g.61601605A>C	VUS	1 lab	793ea400a4
12:54793734 ITGA5 A>G	12	54793734	54793734	A	G	ITGA5	c.2644-3T>C	NM_002205.5	NP_002196.4:p.?	NC_000012.11:g.54793734A>G	(Likely) benign	1 lab	793f0c600c
10:72195575 NODAL C>T	10	72195575	72195575	C	T	NODAL	c.358G>A	NM_018055.5	NP_060525.3:p.(Asp120Asn)	NC_000010.10:g.72195575C>T	(Likely) benign	1 lab	24d88314ed
5:42425145 GHR C>G	5	42425145	42425145	C	G	GHR	c.-12+1088C>G	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42425145C>G	(Likely) benign	1 lab	793f36aeb5
17:41234579 BRCA1 A>G	17	41234579	41234579	A	G	BRCA1	c.4199T>C	NM_007294.4	NP_009225.1:p.(Met1400Thr)	NC_000017.10:g.41234579A>G	VUS	1 lab	793f804e7d
19:41066221 SPTBN4 G>A	19	41066221	41066221	G	A	SPTBN4	c.5827G>A	NM_020971.3	NP_066022.2:p.(Asp1943Asn)	NC_000019.9:g.41066221G>A	VUS	1 lab	793fef6fc3
2:202588130 ALS2 C>T	2	202588130	202588130	C	T	ALS2	c.3547G>A	NM_020919.4	NP_065970.2:p.(Val1183Met)	NC_000002.11:g.202588130C>T	(Likely) benign	1 lab	79403cbf19
19:51857529 ETFB T>C	19	51857529	51857529	T	C	ETFB	c.91A>G	NM_001985.3	NP_001976.1:p.(Thr31Ala)	NC_000019.9:g.51857529T>C	VUS	1 lab	794106d7f8
18:47812268 CXXC1 G>A	18	47812268	47812268	G	A	CXXC1	c.490C>T	NM_014593.4	NP_055408.2:p.(Arg164Trp)	NC_000018.9:g.47812268G>A	(Likely) benign	1 lab	794193f493
12:116429008 MED13L G>A	12	116429008	116429008	G	A	MED13L	c.3751C>T	NM_015335.5	NP_056150.1:p.(Arg1251Cys)	NC_000012.11:g.116429008G>A	(Likely) benign	1 lab	7941e336c4
6:51890065 PKHD1 C>T	6	51890065	51890065	C	T	PKHD1	c.4543G>A	NM_138694.4	NP_619639.3:p.(Glu1515Lys)	NC_000006.11:g.51890065C>T	VUS	1 lab	7942763911
2:1652932 PXDN G>A	2	1652932	1652932	G	A	PXDN	c.2620C>T	NM_012293.3	NP_036425.1:p.(Arg874Cys)	NC_000002.11:g.1652932G>A	VUS	1 lab	7942c2e61d
19:55543489 GP6 C>T	19	55543489	55543489	C	T	GP6	c.325+18G>A	NM_001083899.2	NP_001077368.2:p.?	NC_000019.9:g.55543489C>T	(Likely) benign	1 lab	24d9c3f30b
X:123514789 TENM1 C>G	X	123514789	123514789	C	G	TENM1	c.7796G>C	NM_001163278.2	NP_001156750.1:p.(Gly2599Ala)	NC_000023.10:g.123514789C>G	(Likely) benign	1 lab	794485d05b
11:9810779 SBF2 G>A	11	9810779	9810779	G	A	SBF2	c.4809C>T	NM_030962.3	NP_112224.1:p.(His1603=)	NC_000011.9:g.9810779G>A	(Likely) benign	1 lab	24da814a9f
2:238283544 COL6A3 G>A	2	238283544	238283544	G	A	COL6A3	c.3190C>T	NM_004369.4	NP_004360.2:p.(Arg1064Trp)	NC_000002.11:g.238283544G>A	VUS	1 lab	7946bd1123
1:15987847 RSC1A1 A>G	1	15987847	15987847	A	G	RSC1A1	c.1484A>G	NM_006511.3	NP_006502.1:p.(Lys495Arg)	NC_000001.10:g.15987847A>G	(Likely) benign	1 lab	79472e810a
5:109178094 MAN2A1 A>T	5	109178094	109178094	A	T	MAN2A1	c.2632A>T	NM_002372.4	NP_002363.2:p.(Ile878Phe)	NC_000005.9:g.109178094A>T	VUS	1 lab	79489ee661
18:8786077 MTCL1 C>A	18	8786077	8786077	C	A	MTCL1	c.2955C>A	NM_001395333.1	NP_001382262.1:p.(Cys985Ter)	NC_000018.9:g.8786077C>A	VUS	1 lab	7948cd7d0e
16:1652427 IFT140 C>T	16	1652427	1652427	C	T	IFT140	c.313G>A	NM_014714.4	NP_055529.2:p.(Asp105Asn)	NC_000016.9:g.1652427C>T	(Likely) benign	1 lab	794935a812
16:47703153 PHKB GA>G	16	47703153	47703155	GA	G	PHKB	c.2457del	NM_000293.3	NP_000284.1:p.(Glu820LysfsTer11)	NC_000016.9:g.47703155del	(Likely) pathogenic	1 lab	7949c88d88
4:9213373 USP17L10 C>T	4	9213373	9213373	C	T	USP17L10	c.991C>T	NM_001256852.1	NP_001243781.1:p.(His331Tyr)	NC_000004.11:g.9213373C>T	(Likely) benign	1 lab	794a36b9e2
12:29709922 TMTC1 C>T	12	29709922	29709922	C	T	TMTC1	c.1544G>A	NM_001193451.2	NP_001180380.1:p.(Arg515His)	NC_000012.11:g.29709922C>T	(Likely) benign	1 lab	794ad6615a
20:44580958 ZNF335 G>A	20	44580958	44580958	G	A	ZNF335	c.3017C>T	NM_022095.4	NP_071378.1:p.(Pro1006Leu)	NC_000020.10:g.44580958G>A	(Likely) benign	1 lab	794b1290a5
5:140866992 PCDHGC3 G>A	5	140866992	140866992	G	A	PCDHGC3	c.2431-7382G>A	NM_002588.4	NP_002579.2:p.?	NC_000005.9:g.140866992G>A	VUS	1 lab	794c285243
1:27023583 ARID1A C>T	1	27023583	27023583	C	T	ARID1A	c.689C>T	NM_006015.6	NP_006006.3:p.(Ala230Val)	NC_000001.10:g.27023583C>T	VUS	1 lab	794cb33d84
20:19956084 RIN2 C>G	20	19956084	19956084	C	G	RIN2	c.1415C>G	NM_018993.4	NP_061866.1:p.(Thr472Ser)	NC_000020.10:g.19956084C>G	(Likely) benign	1 lab	795198e868
12:80943308 PTPRQ G>A	12	80943308	80943308	G	A	PTPRQ	c.4080G>A	NM_001145026.2	NP_001138498.1:p.(Trp1360Ter)	NC_000012.11:g.80943308G>A	VUS	1 lab	79543942fd
17:17696992 RAI1 G>A	17	17696992	17696992	G	A	RAI1	c.730G>A	NM_030665.4	NP_109590.3:p.(Ala244Thr)	NC_000017.10:g.17696992G>A	(Likely) benign	1 lab	7954d8b310
16:3304532 MEFV C>A	16	3304532	3304532	C	A	MEFV	c.536G>T	NM_000243.2	NP_000234.1:p.(Ser179Ile)	NC_000016.9:g.3304532C>A	(Likely) pathogenic	1 lab	24db05bc16
9:35801720 NPR2 G>A	9	35801720	35801720	G	A	NPR2	c.1517G>A	NM_003995.4	NP_003986.2:p.(Arg506His)	NC_000009.11:g.35801720G>A	VUS	1 lab	7956554fd8
14:74995321 LTBP2 C>T	14	74995321	74995321	C	T	LTBP2	c.2233G>A	NM_000428.3	NP_000419.1:p.(Glu745Lys)	NC_000014.8:g.74995321C>T	VUS	1 lab	79571ded52
12:102811716 IGF1 ATG>A	12	102811716	102811721	ATG	A	IGF1	c.402+1569_402+1570del	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102811720_102811721del	(Likely) benign	1 lab	7958b4dbe3
5:149501488 PDGFRB C>G	5	149501488	149501488	C	G	PDGFRB	c.2299G>C	NM_002609.4	NP_002600.1:p.(Glu767Gln)	NC_000005.9:g.149501488C>G	VUS	1 lab	79595b89e6
2:215610596 BARD1 G>C	2	215610596	215610596	G	C	BARD1	c.1678-18C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215610596G>C	(Likely) benign	1 lab	795a98c0b8
1:36031227 NCDN G>A	1	36031227	36031227	G	A	NCDN	c.2153G>A	NM_014284.3	NP_055099.1:p.(Arg718His)	NC_000001.10:g.36031227G>A	VUS	1 lab	795c244369
20:43048411 HNF4A C>T	20	43048411	43048411	C	T	HNF4A	c.787C>T	NM_000457.5	NP_000448.3:p.(Arg263Trp)	NC_000020.10:g.43048411C>T	(Likely) pathogenic	1 lab	795d57c626
19:13446642 CACNA1A G>A	19	13446642	13446642	G	A	CACNA1A	c.1060C>T	NM_001127222.2	NP_001120694.1:p.(Leu354Phe)	NC_000019.9:g.13446642G>A	VUS	1 lab	795db126aa
16:30736324 SRCAP C>T	16	30736324	30736324	C	T	SRCAP	c.5579C>T	NM_006662.3	NP_006653.2:p.(Pro1860Leu)	NC_000016.9:g.30736324C>T	VUS	1 lab	795db3f794
4:122250816 QRFPR C>A	4	122250816	122250816	C	A	QRFPR	c.949G>T	NM_198179.3	NP_937822.2:p.(Val317Leu)	NC_000004.11:g.122250816C>A	(Likely) benign	1 lab	795e85622d
14:24459567 DHRS4L2 T>C	14	24459567	24459567	T	C	DHRS4L2	c.305T>C	NM_198083.4	NP_932349.2:p.(Met102Thr)	NC_000014.8:g.24459567T>C	VUS	1 lab	795f2aa8b8
3:133119046 BFSP2 C>A	3	133119046	133119046	C	A	BFSP2	c.119C>A	NM_003571.4	NP_003562.1:p.(Pro40Gln)	NC_000003.11:g.133119046C>A	(Likely) benign	1 lab	795f5766f9
19:3491744 DOHH C>CGGTT	19	3491744	3491746	C	CGGTT	DOHH	c.654_655insAACC	NM_001145165.2	NP_001138637.1:p.(Glu219AsnfsTer54)	NC_000019.9:g.3491745_3491746insGTTG	(Likely) pathogenic	1 lab	795fc0afa3
X:14913436 MOSPD2 A>G	X	14913436	14913436	A	G	MOSPD2	c.242A>G	NM_152581.4	NP_689794.1:p.(Asn81Ser)	NC_000023.10:g.14913436A>G	(Likely) benign	1 lab	795fd3d097
9:134021655 NUP214 G>A	9	134021655	134021655	G	A	NUP214	c.1909G>A	NM_005085.4	NP_005076.3:p.(Val637Met)	NC_000009.11:g.134021655G>A	(Likely) benign	1 lab	79610eb378
2:130897660 CCDC74B G>A	2	130897660	130897660	G	A	CCDC74B	c.688C>T	NM_001258307.2	NP_001245236.1:p.(Leu230Phe)	NC_000002.11:g.130897660G>A	(Likely) benign	1 lab	7961f900f0
17:73486776 TMEM94 C>T	17	73486776	73486776	C	T	TMEM94	c.1072-7C>T	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73486776C>T	(Likely) benign	1 lab	79626dd772
11:76867135 MYO7A C>T	11	76867135	76867135	C	T	MYO7A	c.468C>T	NM_000260.4	NP_000251.3:p.(Ile156=)	NC_000011.9:g.76867135C>T	(Likely) benign	1 lab	79630d9941
7:98478708 TRRAP C>T	7	98478708	98478708	C	T	TRRAP	c.-61-5C>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98478708C>T	(Likely) benign	1 lab	7963ccdefc
11:71940803 INPPL1 T>C	11	71940803	71940803	T	C	INPPL1	c.843+7T>C	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71940803T>C	(Likely) benign	1 lab	79646730d6
19:17395038 ANKLE1 G>A	19	17395038	17395038	G	A	ANKLE1	c.1339G>A	NM_152363.6	NP_689576.6:p.(Val447Met)	NC_000019.9:g.17395038G>A	(Likely) benign	1 lab	796534091e
1:182441601 RGSL1 G>A	1	182441601	182441601	G	A	RGSL1	c.372G>A	NM_001137669.2	NP_001131141.1:p.(Val124=)	NC_000001.10:g.182441601G>A	(Likely) benign	1 lab	7965796d83
14:74969990 LTBP2 G>A	14	74969990	74969990	G	A	LTBP2	c.4820C>T	NM_000428.3	NP_000419.1:p.(Thr1607Met)	NC_000014.8:g.74969990G>A	VUS	1 lab	796e4b2e01
4:96046214 BMPR1B T>C	4	96046214	96046214	T	C	BMPR1B	c.527T>C	NM_001203.3	NP_001194.1:p.(Leu176Pro)	NC_000004.11:g.96046214T>C	(Likely) pathogenic	1 lab	796fa6c443
19:54327163 NLRP12 CCT>C	19	54327163	54327170	CCT	C	NLRP12	c.264_265del	NM_144687.4	NP_653288.1:p.(Gly89ThrfsTer103)	NC_000019.9:g.54327169_54327170del	VUS	1 lab	236fcf529c
5:65310477 ERBIN A>AT	5	65310477	65310487	A	AT	ERBIN	c.477-10dup	NM_001253697.2	NP_001240626.1:p.?	NC_000005.9:g.65310487dup	(Likely) benign	1 lab	24db3f4e10
20:42887205 GDAP1L1 A>G	20	42887205	42887205	A	G	GDAP1L1	c.505A>G	NM_024034.6	NP_076939.3:p.(Thr169Ala)	NC_000020.10:g.42887205A>G	VUS	1 lab	7972704339
22:45923871 FBLN1 G>A	22	45923871	45923871	G	A	FBLN1	c.466G>A	NM_006486.3	NP_006477.3:p.(Gly156Arg)	NC_000022.10:g.45923871G>A	(Likely) benign	1 lab	7974cd378b
12:123875186 KMT5A T>C	12	123875186	123875186	T	C	KMT5A	c.142T>C	NM_020382.7	NP_065115.3:p.(Phe48Leu)	NC_000012.11:g.123875186T>C	VUS	1 lab	7976c76ce9
X:77253971 ATP7A C>T	X	77253971	77253971	C	T	ATP7A	c.1337-4C>T	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77253971C>T	(Likely) benign	1 lab	797a2617e4
16:88600285 ZFPM1 G>A	16	88600285	88600285	G	A	ZFPM1	c.1919G>A	NM_153813.3	NP_722520.2:p.(Gly640Asp)	NC_000016.9:g.88600285G>A	VUS	1 lab	797a69596e
17:3417314 TRPV3 T>A	17	3417314	3417314	T	A	TRPV3	c.2279-9A>T	NM_145068.4	NP_659505.1:p.?	NC_000017.10:g.3417314T>A	(Likely) benign	1 lab	79f63698ab
16:2140149 PKD1 C>T	16	2140149	2140149	C	T	PKD1	c.12491G>A	NM_001009944.3	NP_001009944.3:p.(Arg4164His)	NC_000016.9:g.2140149C>T	VUS	1 lab	797be6ff7f
7:56079463 PSPH C>G	7	56079463	56079463	C	G	PSPH	c.670G>C	NM_004577.4	NP_004568.2:p.(Glu224Gln)	NC_000007.13:g.56079463C>G	(Likely) benign	1 lab	797d88c192
2:42275399 PKDCC C>G	2	42275399	42275399	C	G	PKDCC	c.60C>G	NM_138370.3	NP_612379.2:p.(Ser20=)	NC_000002.11:g.42275399C>G	(Likely) benign	1 lab	7980045c8b
6:102134175 GRIK2 C>T	6	102134175	102134175	C	T	GRIK2	c.898C>T	NM_021956.5	NP_068775.1:p.(Arg300Ter)	NC_000006.11:g.102134175C>T	VUS	1 lab	7980684d92
7:50611606 DDC C>T	7	50611606	50611606	C	T	DDC	c.178G>A	NM_001082971.2	NP_001076440.2:p.(Val60Ile)	NC_000007.13:g.50611606C>T	VUS	1 lab	7981266f42
22:50316016 CRELD2 G>A	22	50316016	50316016	G	A	CRELD2	c.593-244G>A	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50316016G>A	(Likely) benign	1 lab	798189b1c5
3:13432711 NUP210 C>A	3	13432711	13432711	C	A	NUP210	c.533G>T	NM_024923.4	NP_079199.2:p.(Arg178Leu)	NC_000003.11:g.13432711C>A	VUS	1 lab	7981ad84dd
19:21910300 ZNF100 G>C	19	21910300	21910300	G	C	ZNF100	c.814C>G	NM_173531.4	NP_775802.2:p.(Arg272Gly)	NC_000019.9:g.21910300G>C	VUS	1 lab	798308766f
X:16711257 CTPS2 A>G	X	16711257	16711257	A	G	CTPS2	c.639+7T>C	NM_175859.3	NP_787055.1:p.?	NC_000023.10:g.16711257A>G	VUS	1 lab	7984c278f6
8:94934664 PDP1 G>A	8	94934664	94934664	G	A	PDP1	c.377G>A	NM_018444.4	NP_060914.2:p.(Arg126Gln)	NC_000008.10:g.94934664G>A	VUS	1 lab	798551934b
15:89398255 ACAN C>A	15	89398255	89398255	C	A	ACAN	c.2439C>A	NM_001369268.1	NP_001356197.1:p.(Pro813=)	NC_000015.9:g.89398255C>A	VUS	1 lab	79859ebece
1:156838048 NTRK1 G>T	1	156838048	156838048	G	T	NTRK1	c.574+7G>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156838048G>T	(Likely) benign	1 lab	7985d06559
11:89820113 UBTFL1 TCTGCAAG>T	11	89820113	89820120	TCTGCAAG	T	UBTFL1	c.997_1003del	NM_001143975.1	NP_001137447.1:p.(Leu333LysfsTer22)	NC_000011.9:g.89820114_89820120del	(Likely) benign	1 lab	7985dfac1d
19:48183886 BICRA T>C	19	48183886	48183886	T	C	BICRA	c.1459T>C	NM_001394372.1	NP_001381301.1:p.(Ser487Pro)	NC_000019.9:g.48183886T>C	(Likely) benign	1 lab	7987142bff
19:8669982 ADAMTS10 G>A	19	8669982	8669982	G	A	ADAMTS10	c.350C>T	NM_030957.4	NP_112219.3:p.(Ala117Val)	NC_000019.9:g.8669982G>A	(Likely) benign	1 lab	798715a791
18:28659895 DSC2 G>C	18	28659895	28659895	G	C	DSC2	c.1581C>G	NM_024422.6	NP_077740.1:p.(Ile527Met)	NC_000018.9:g.28659895G>C	VUS	1 lab	2378eef609
11:6637739 TPP1 ATTTT>A	11	6637739	6637759	ATTTT	A	TPP1	c.887-9_887-6del	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6637756_6637759del	VUS	1 lab	798b41a1a9
3:42727423 KLHL40 T>C	3	42727423	42727423	T	C	KLHL40	c.313T>C	NM_152393.4	NP_689606.2:p.(Phe105Leu)	NC_000003.11:g.42727423T>C	VUS	1 lab	798c777d27
16:65032579 CDH11 G>A	16	65032579	65032579	G	A	CDH11	c.409C>T	NM_001797.4	NP_001788.2:p.(Arg137Trp)	NC_000016.9:g.65032579G>A	VUS	1 lab	798fb34e81
9:140522004 EHMT1 G>A	9	140522004	140522004	G	A	EHMT1	c.21+8503G>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140522004G>A	(Likely) benign	1 lab	79950fdde6
5:37180197 CPLANE1 T>C	5	37180197	37180197	T	C	CPLANE1	c.5659A>G	NM_001384732.1	NP_001371661.1:p.(Ile1887Val)	NC_000005.9:g.37180197T>C	(Likely) benign	1 lab	7995c906fa
9:104133527 BAAT C>T	9	104133527	104133527	C	T	BAAT	c.160G>A	NM_001701.4	NP_001692.1:p.(Glu54Lys)	NC_000009.11:g.104133527C>T	(Likely) benign	1 lab	7996aa4059
11:72537832 ATG16L2 C>T	11	72537832	72537832	C	T	ATG16L2	c.1330C>T	NM_033388.2	NP_203746.1:p.(Arg444Trp)	NC_000011.9:g.72537832C>T	VUS	1 lab	7996fbbd73
6:157520001 ARID1B C>T	6	157520001	157520001	C	T	ARID1B	c.4439C>T	NM_001374828.1	NP_001361757.1:p.(Pro1480Leu)	NC_000006.11:g.157520001C>T	VUS	1 lab	799887b4a2
3:189526152 TP63 C>T	3	189526152	189526152	C	T	TP63	c.416C>T	NM_003722.5	NP_003713.3:p.(Ala139Val)	NC_000003.11:g.189526152C>T	VUS	1 lab	799be0de3b
12:122281689 HPD G>A	12	122281689	122281689	G	A	HPD	c.881C>T	NM_002150.3	NP_002141.2:p.(Thr294Met)	NC_000012.11:g.122281689G>A	VUS	1 lab	799bfd1dfc
9:140138638 CIMIP2A T>C	9	140138638	140138638	T	C	CIMIP2A	c.850A>G	NM_001001710.3	NP_001001710.1:p.(Met284Val)	NC_000009.11:g.140138638T>C	VUS	1 lab	799d989677
19:3618175 CACTIN CGG>C	19	3618175	3618189	CGG	C	CACTIN	c.1162+696_1162+697del	NM_001080543.2	NP_001074012.1:p.?	NC_000019.9:g.3618188_3618189del	VUS	1 lab	799e300a44
6:157150473 ARID1B C>T	6	157150473	157150473	C	T	ARID1B	c.1904C>T	NM_001374828.1	NP_001361757.1:p.(Pro635Leu)	NC_000006.11:g.157150473C>T	VUS	1 lab	799e4a268b
11:1016802 MUC6 T>A	11	1016802	1016802	T	A	MUC6	c.5999A>T	NM_005961.3	NP_005952.2:p.(His2000Leu)	NC_000011.9:g.1016802T>A	(Likely) benign	1 lab	799e5f88d1
2:36737286 CRIM1 C>T	2	36737286	36737286	C	T	CRIM1	c.1658+4C>T	NM_016441.3	NP_057525.1:p.?	NC_000002.11:g.36737286C>T	VUS	1 lab	79a017fa7d
7:33217091 BBS9 A>T	7	33217091	33217091	A	T	BBS9	c.330A>T	NM_198428.3	NP_940820.1:p.(Gly110=)	NC_000007.13:g.33217091A>T	VUS	1 lab	79a09fd2ee
17:7250553 ACAP1 C>T	17	7250553	7250553	C	T	ACAP1	c.1335C>T	NM_014716.4	NP_055531.1:p.(Gly445=)	NC_000017.10:g.7250553C>T	(Likely) benign	1 lab	79a0fdc128
20:44520892 CTSA G>A	20	44520892	44520892	G	A	CTSA	c.307-20G>A	NM_000308.4	NP_000299.3:p.?	NC_000020.10:g.44520892G>A	VUS	1 lab	79a1388384
20:1294105 SDCBP2 G>A	20	1294105	1294105	G	A	SDCBP2	c.263C>T	NM_080489.5	NP_536737.3:p.(Ala88Val)	NC_000020.10:g.1294105G>A	(Likely) benign	1 lab	79a23dce16
5:149512332 PDGFRB G>A	5	149512332	149512332	G	A	PDGFRB	c.1108C>T	NM_002609.4	NP_002600.1:p.(Arg370Cys)	NC_000005.9:g.149512332G>A	(Likely) benign	1 lab	79a2637bb1
2:166852556 SCN1A C>T	2	166852556	166852556	C	T	SCN1A	c.4548G>A	NM_001165963.4	NP_001159435.1:p.(Ser1516=)	NC_000002.11:g.166852556C>T	(Likely) benign	1 lab	79a2da4959
9:140057746 GRIN1 G>GCC	9	140057746	140057750	G	GCC	GRIN1	c.2300_2301dup	NM_007327.4	NP_015566.1:p.(Trp768ProfsTer54)	NC_000009.11:g.140057749_140057750dup	VUS	1 lab	79a3bd441f
4:128812230 PLK4 G>GTT	4	128812230	128812244	G	GTT	PLK4	c.1831-4_1831-3dup	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128812243_128812244dup	(Likely) benign	1 lab	79a560b54c
4:79365152 FRAS1 G>A	4	79365152	79365152	G	A	FRAS1	c.5666-1524G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79365152G>A	(Likely) benign	1 lab	24e27d30de
2:233272588 ALPG T>G	2	233272588	233272588	T	G	ALPG	c.509T>G	NM_031313.3	NP_112603.2:p.(Val170Gly)	NC_000002.11:g.233272588T>G	VUS	1 lab	79a799c367
2:25994394 ASXL2 G>A	2	25994394	25994394	G	A	ASXL2	c.419C>T	NM_018263.6	NP_060733.4:p.(Pro140Leu)	NC_000002.11:g.25994394G>A	VUS	1 lab	237ca76b1b
19:54600361 OSCAR C>T	19	54600361	54600361	C	T	OSCAR	c.161G>A	NM_133169.6	NP_573399.2:p.(Arg54Gln)	NC_000019.9:g.54600361C>T	VUS	1 lab	79a86e6565
11:92590502 FAT3 G>A	11	92590502	92590502	G	A	FAT3	c.11488G>A	NM_001367949.2	NP_001354878.1:p.(Gly3830Arg)	NC_000011.9:g.92590502G>A	VUS	1 lab	79a9ebd455
1:8384582 SLC45A1 A>C	1	8384582	8384582	A	C	SLC45A1	c.193A>C	NM_001080397.3	NP_001073866.3:p.(Asn65His)	NC_000001.10:g.8384582A>C	(Likely) benign	1 lab	79aaf7677d
5:149221892 PPARGC1B A>G	5	149221892	149221892	A	G	PPARGC1B	c.2768A>G	NM_133263.4	NP_573570.3:p.(Glu923Gly)	NC_000005.9:g.149221892A>G	VUS	1 lab	79ab95517c
1:20640926 VWA5B1 T>C	1	20640926	20640926	T	C	VWA5B1	c.404T>C	NM_001039500.3	NP_001034589.2:p.(Ile135Thr)	NC_000001.10:g.20640926T>C	(Likely) benign	1 lab	79abfd7163
13:111289506 NAXD G>A	13	111289506	111289506	G	A	NAXD	c.749G>A	NM_001242882.2	NP_001229811.1:p.(Arg250His)	NC_000013.10:g.111289506G>A	VUS	1 lab	79ac953a73
2:179605851 TTN C>T	2	179605851	179605851	C	T	TTN	c.12109G>A	NM_001267550.2	NP_001254479.2:p.(Asp4037Asn)	NC_000002.11:g.179605851C>T	(Likely) benign	1 lab	79accfc30e
8:145622825 CPSF1 G>A	8	145622825	145622825	G	A	CPSF1	c.2262C>T	NM_013291.3	NP_037423.2:p.(Leu754=)	NC_000008.10:g.145622825G>A	VUS	1 lab	79b169b285
20:60893527 LAMA5 G>A	20	60893527	60893527	G	A	LAMA5	c.7222C>T	NM_005560.6	NP_005551.3:p.(Arg2408Cys)	NC_000020.10:g.60893527G>A	VUS	1 lab	79b1877c33
13:32914859 BRCA2 G>GA	13	32914859	32914865	G	GA	BRCA2	c.6373dup	NM_000059.4	NP_000050.3:p.(Thr2125AsnfsTer4)	NC_000013.10:g.32914865dup	(Likely) pathogenic	1 lab	79b3fc785e
13:32915374 BRCA2 T>C	13	32915374	32915374	T	C	BRCA2	c.6841+41T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915374T>C	(Likely) benign	1 lab	24e95676f6
11:64815188 NAALADL1 T>C	11	64815188	64815188	T	C	NAALADL1	c.1439A>G	NM_005468.3	NP_005459.2:p.(Asp480Gly)	NC_000011.9:g.64815188T>C	(Likely) benign	1 lab	79b6098465
11:71940241 INPPL1 G>A	11	71940241	71940241	G	A	INPPL1	c.626G>A	NM_001567.4	NP_001558.3:p.(Arg209His)	NC_000011.9:g.71940241G>A	VUS	1 lab	79b8b4fab8
1:12202404 TNFRSF8 C>A	1	12202404	12202404	C	A	TNFRSF8	c.1604C>A	NM_001243.5	NP_001234.3:p.(Pro535Gln)	NC_000001.10:g.12202404C>A	(Likely) benign	1 lab	79b8daca76
8:145741797 RECQL4 C>T	8	145741797	145741797	C	T	RECQL4	c.706G>A	NM_004260.4	NP_004251.4:p.(Gly236Ser)	NC_000008.10:g.145741797C>T	(Likely) benign	1 lab	79ba2228f2
20:44523305 CTSA G>A	20	44523305	44523305	G	A	CTSA	c.794G>A	NM_000308.4	NP_000299.3:p.(Arg265His)	NC_000020.10:g.44523305G>A	(Likely) benign	1 lab	79bbfb7330
9:131767814 NUP188 T>G	9	131767814	131767814	T	G	NUP188	c.4737+5T>G	NM_015354.3	NP_056169.1:p.?	NC_000009.11:g.131767814T>G	(Likely) benign	1 lab	79bdf8c7f1
1:240371151 FMN2 T>A	1	240371151	240371151	T	A	FMN2	c.3039T>A	NM_020066.5	NP_064450.3:p.(Pro1013=)	NC_000001.10:g.240371151T>A	(Likely) benign	1 lab	79bed1354a
1:205180618 DSTYK G>A	1	205180618	205180618	G	A	DSTYK	c.46C>T	NM_015375.3	NP_056190.1:p.(Pro16Ser)	NC_000001.10:g.205180618G>A	(Likely) benign	1 lab	79bf603e6b
2:109513545 EDAR C>T	2	109513545	109513545	C	T	EDAR	c.1165G>A	NM_022336.4	NP_071731.1:p.(Gly389Arg)	NC_000002.11:g.109513545C>T	VUS	1 lab	79bf6667c4
X:154033602 MPP1 G>A	X	154033602	154033602	G	A	MPP1	c.47C>T	NM_002436.4	NP_002427.1:p.(Thr16Met)	NC_000023.10:g.154033602G>A	(Likely) benign	1 lab	79bfecbbb5
16:72821988 ZFHX3 GGCTGCTGCTGCTGCACTTTTT>G	16	72821988	72822023	GGCTGCTGCTGCTGCACTTTTT	G	ZFHX3	c.10166_10186del	NM_006885.4	NP_008816.3:p.(Gln3389_Gln3395del)	NC_000016.9:g.72822003_72822023del	VUS	1 lab	79c03d5e46
15:57910241 MYZAP T>C	15	57910241	57910241	T	C	MYZAP	c.173T>C	NM_001018100.5	NP_001018110.1:p.(Leu58Pro)	NC_000015.9:g.57910241T>C	(Likely) benign	1 lab	36bf880f7f
18:19761431 GATA6 T>C	18	19761431	19761431	T	C	GATA6	c.1320T>C	NM_005257.6	NP_005248.2:p.(Leu440=)	NC_000018.9:g.19761431T>C	(Likely) benign	1 lab	79c147e46f
17:42989063 GFAP C>T	17	42989063	42989063	C	T	GFAP	c.883G>A	NM_002055.5	NP_002046.1:p.(Asp295Asn)	NC_000017.10:g.42989063C>T	(Likely) benign	1 lab	79c2c3fbea
4:175443135 HPGD CAG>C	4	175443135	175443139	CAG	C	HPGD	c.175_176del	NM_000860.6	NP_000851.2:p.(Leu59ValfsTer8)	NC_000004.11:g.175443138_175443139del	(Likely) pathogenic	1 lab	79c334ff7f
1:152285549 FLG G>A	1	152285549	152285549	G	A	FLG	c.1813C>T	NM_002016.2	NP_002007.1:p.(Gln605Ter)	NC_000001.10:g.152285549G>A	VUS	1 lab	79c3442fa0
9:134396877 POMT1 AT>A	9	134396877	134396878	AT	A	POMT1	c.1825+19del	NM_001077365.2	NP_001070833.1:p.?	NC_000009.11:g.134396878del	(Likely) benign	1 lab	79c4ad6c4c
17:8384678 MYH10 A>C	17	8384678	8384678	A	C	MYH10	c.5226T>G	NM_001256012.3	NP_001242941.1:p.(Asp1742Glu)	NC_000017.10:g.8384678A>C	(Likely) benign	1 lab	79c5bcfe00
15:89401383 ACAN G>A	15	89401383	89401383	G	A	ACAN	c.5567G>A	NM_001369268.1	NP_001356197.1:p.(Ser1856Asn)	NC_000015.9:g.89401383G>A	VUS	1 lab	79c5e50a02
1:11087465 MASP2 C>T	1	11087465	11087465	C	T	MASP2	c.1538G>A	NM_006610.4	NP_006601.2:p.(Trp513Ter)	NC_000001.10:g.11087465C>T	(Likely) pathogenic	1 lab	79c73df0b1
19:4102179 MAP2K2 T>C	19	4102179	4102179	T	C	MAP2K2	c.528+195A>G	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4102179T>C	(Likely) benign	1 lab	79c97cbab3
4:993852 IDUA G>C	4	993852	993852	G	C	IDUA	c.300-548G>C	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.993852G>C	(Likely) benign	1 lab	79ccb8191e
19:39996028 DLL3 G>C	19	39996028	39996028	G	C	DLL3	c.1030G>C	NM_203486.3	NP_982353.1:p.(Gly344Arg)	NC_000019.9:g.39996028G>C	VUS	1 lab	7abc3dd417
19:36395546 TYROBP T>TGGGGGCCATCAGTGGAA	19	36395546	36395566	T	TGGGGGCCATCAGTGGAA	TYROBP	c.277-27_277-11dup	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36395550_36395566dup	(Likely) benign	1 lab	79cee124e2
2:179499884 TTN T>A	2	179499884	179499884	T	A	TTN	c.42024+8A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179499884T>A	(Likely) benign	1 lab	79cfee68ca
3:37090393 MLH1 A>G	3	37090393	37090393	A	G	MLH1	c.1990-2A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37090393A>G	(Likely) pathogenic	1 lab	79d15f559e
17:7646596 DNAH2 CT>C	17	7646596	7646606	CT	C	DNAH2	c.1904+146del	NM_020877.5	NP_065928.2:p.?	NC_000017.10:g.7646606del	(Likely) benign	1 lab	79d27d5cf0
15:57511787 TCF12 C>T	15	57511787	57511787	C	T	TCF12	c.580-11563C>T	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57511787C>T	(Likely) benign	1 lab	79d29ed3d7
3:33540177 CLASP2 T>G	3	33540177	33540177	T	G	CLASP2	c.4467A>C	NM_001365631.1	NP_001352560.1:p.(Ala1489=)	NC_000003.11:g.33540177T>G	VUS	1 lab	79d2ed88a7
12:2692112 CACNA1C T>A	12	2692112	2692112	T	A	CACNA1C	c.2224+4T>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2692112T>A	VUS	1 lab	7a2c2876dd
19:11347525 DOCK6 C>T	19	11347525	11347525	C	T	DOCK6	c.2104G>A	NM_020812.4	NP_065863.2:p.(Gly702Ser)	NC_000019.9:g.11347525C>T	(Likely) benign	1 lab	79d578820b
X:100531079 TAF7L A>G	X	100531079	100531079	A	G	TAF7L	c.935T>C	NM_001168474.2	NP_001161946.1:p.(Ile312Thr)	NC_000023.10:g.100531079A>G	VUS	1 lab	79d83fad1d
1:19203977 ALDH4A1 G>A	1	19203977	19203977	G	A	ALDH4A1	c.1070C>T	NM_003748.4	NP_003739.2:p.(Pro357Leu)	NC_000001.10:g.19203977G>A	VUS	1 lab	79d88e1406
1:103381216 COL11A1 G>A	1	103381216	103381216	G	A	COL11A1	c.3787C>T	NM_001854.4	NP_001845.3:p.(Pro1263Ser)	NC_000001.10:g.103381216G>A	VUS	1 lab	79d94cfc46
X:2861232 ARSL G>T	X	2861232	2861232	G	T	ARSL	c.1000C>A	NM_000047.3	NP_000038.2:p.(Leu334Ile)	NC_000023.10:g.2861232G>T	VUS	1 lab	79de72a9d3
21:34921872 SON A>G	21	34921872	34921872	A	G	SON	c.335A>G	NM_138927.4	NP_620305.3:p.(Lys112Arg)	NC_000021.8:g.34921872A>G	(Likely) benign	1 lab	79e049d950
5:140731059 PCDHGA1 C>A	5	140731059	140731059	C	A	PCDHGA1	c.2421+18387C>A	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140731059C>A	(Likely) benign	1 lab	79e29a99cb
3:4821337 ITPR1 G>A	3	4821337	4821337	G	A	ITPR1	c.6387+8G>A	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4821337G>A	VUS	1 lab	79e47d8dec
10:104129113 GBF1 G>A	10	104129113	104129113	G	A	GBF1	c.3119G>A	NM_001377137.1	NP_001364066.1:p.(Arg1040Gln)	NC_000010.10:g.104129113G>A	(Likely) benign	1 lab	79e52141ff
19:11361749 DOCK6 C>T	19	11361749	11361749	C	T	DOCK6	c.521G>A	NM_020812.4	NP_065863.2:p.(Arg174His)	NC_000019.9:g.11361749C>T	(Likely) benign	1 lab	79e64f5e33
18:2705755 SMCHD1 G>A	18	2705755	2705755	G	A	SMCHD1	c.1906G>A	NM_015295.3	NP_056110.2:p.(Asp636Asn)	NC_000018.9:g.2705755G>A	VUS	1 lab	79ead0f42b
2:179464361 TTN C>T	2	179464361	179464361	C	T	TTN	c.56267G>A	NM_001267550.2	NP_001254479.2:p.(Arg18756Lys)	NC_000002.11:g.179464361C>T	VUS	1 lab	79ee1820a1
7:151859277 KMT2C C>A	7	151859277	151859277	C	A	KMT2C	c.11385G>T	NM_170606.3	NP_733751.2:p.(Glu3795Asp)	NC_000007.13:g.151859277C>A	(Likely) benign	1 lab	79f034895a
3:145838990 PLOD2 T>C	3	145838990	145838990	T	C	PLOD2	c.247A>G	NM_182943.3	NP_891988.1:p.(Ser83Gly)	NC_000003.11:g.145838990T>C	(Likely) benign	1 lab	79f15336da
2:220432488 OBSL1 T>C	2	220432488	220432488	T	C	OBSL1	c.1486A>G	NM_015311.3	NP_056126.1:p.(Thr496Ala)	NC_000002.11:g.220432488T>C	VUS	1 lab	79f2252b24
19:7132340 INSR AGAG>A	19	7132340	7132349	AGAG	A	INSR	c.2683-15_2683-13del	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7132347_7132349del	(Likely) benign	1 lab	79f2541271
16:3781932 CREBBP G>C	16	3781932	3781932	G	C	CREBBP	c.4735C>G	NM_004380.3	NP_004371.2:p.(Gln1579Glu)	NC_000016.9:g.3781932G>C	(Likely) benign	1 lab	79f3fc78cc
3:49054042 DALRD3 C>T	3	49054042	49054042	C	T	DALRD3	c.1063+3G>A	NM_001009996.3	NP_001009996.1:p.?	NC_000003.11:g.49054042C>T	VUS	1 lab	79f7612e90
22:40057233 CACNA1I C>T	22	40057233	40057233	C	T	CACNA1I	c.2819C>T	NM_021096.4	NP_066919.2:p.(Pro940Leu)	NC_000022.10:g.40057233C>T	(Likely) benign	1 lab	79f7b09483
8:124988268 FER1L6 G>A	8	124988268	124988268	G	A	FER1L6	c.814G>A	NM_001039112.2	NP_001034201.2:p.(Gly272Ser)	NC_000008.10:g.124988268G>A	VUS	1 lab	79face8e03
4:57797604 REST CTCACCACCA>C	4	57797604	57797622	CTCACCACCA	C	REST	c.2590_2598del	NM_005612.5	NP_005603.3:p.(Ser864_Pro866del)	NC_000004.11:g.57797614_57797622del	VUS	1 lab	79fb48b1ed
11:107375610 ALKBH8 T>C	11	107375610	107375610	T	C	ALKBH8	c.1769A>G	NM_138775.3	NP_620130.2:p.(Gln590Arg)	NC_000011.9:g.107375610T>C	VUS	1 lab	79fea02ace
18:63526290 CDH7 T>A	18	63526290	63526290	T	A	CDH7	c.1494+8T>A	NM_004361.5	NP_004352.2:p.?	NC_000018.9:g.63526290T>A	(Likely) benign	1 lab	7a04524b09
22:50659500 TUBGCP6 A>C	22	50659500	50659500	A	C	TUBGCP6	c.3288T>G	NM_020461.4	NP_065194.3:p.(Asp1096Glu)	NC_000022.10:g.50659500A>C	(Likely) benign	1 lab	7a04d14e96
2:238257288 COL6A3 C>T	2	238257288	238257288	C	T	COL6A3	c.6898G>A	NM_004369.4	NP_004360.2:p.(Gly2300Arg)	NC_000002.11:g.238257288C>T	VUS	1 lab	7a051faee8
8:68138418 ARFGEF1 G>A	8	68138418	68138418	G	A	ARFGEF1	c.3917C>T	NM_006421.5	NP_006412.2:p.(Thr1306Ile)	NC_000008.10:g.68138418G>A	(Likely) benign	1 lab	7a09bc9855
2:179640548 TTN C>T	2	179640548	179640548	C	T	TTN	c.6043G>A	NM_001267550.2	NP_001254479.2:p.(Ala2015Thr)	NC_000002.11:g.179640548C>T	VUS	1 lab	7a0a8388a2
2:25038617 CENPO C>T	2	25038617	25038617	C	T	CENPO	c.586C>T	NM_001322101.2	NP_001309030.1:p.(Arg196Trp)	NC_000002.11:g.25038617C>T	VUS	1 lab	7a0acd09f1
12:125591668 AACS G>A	12	125591668	125591668	G	A	AACS	c.769G>A	NM_023928.5	NP_076417.2:p.(Val257Met)	NC_000012.11:g.125591668G>A	VUS	1 lab	7a0aff7305
11:44117409 EXT2 G>T	11	44117409	44117409	G	T	EXT2	c.-31+7G>T	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44117409G>T	(Likely) benign	1 lab	7a0b8b6b33
3:186257201 CRYGS T>G	3	186257201	186257201	T	G	CRYGS	c.207A>C	NM_017541.4	NP_060011.1:p.(Glu69Asp)	NC_000003.11:g.186257201T>G	(Likely) benign	1 lab	7a0c5bf05a
17:29552557 NF1 A>G	17	29552557	29552557	A	G	NF1	c.2001+289A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29552557A>G	(Likely) benign	1 lab	7a0dd90c36
17:29483074 NF1 A>G	17	29483074	29483074	A	G	NF1	c.134A>G	NM_001042492.3	NP_001035957.1:p.(Asn45Ser)	NC_000017.10:g.29483074A>G	(Likely) benign	1 lab	7a0e214d0b
10:89503308 PAPSS2 C>T	10	89503308	89503308	C	T	PAPSS2	c.1401C>T	NM_001015880.2	NP_001015880.1:p.(His467=)	NC_000010.10:g.89503308C>T	(Likely) benign	1 lab	7a101ba1f7
X:55748711 RRAGB C>T	X	55748711	55748711	C	T	RRAGB	c.219C>T	NM_006064.5	NP_006055.3:p.(Gly73=)	NC_000023.10:g.55748711C>T	(Likely) benign	1 lab	7a13b2bc0b
15:80452749 FAH C>G	15	80452749	80452749	C	G	FAH	c.315-3C>G	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452749C>G	VUS	1 lab	7a156af878
21:46309885 ITGB2 G>A	21	46309885	46309885	G	A	ITGB2	c.1657+8C>T	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46309885G>A	(Likely) benign	1 lab	24f21f6c8d
3:136002748 PCCB G>A	3	136002748	136002748	G	A	PCCB	c.613G>A	NM_000532.5	NP_000523.2:p.(Val205Ile)	NC_000003.11:g.136002748G>A	VUS	1 lab	7a16b91c06
X:114425284 RBMXL3 G>A	X	114425284	114425284	G	A	RBMXL3	c.1280G>A	NM_001145346.2	NP_001138818.1:p.(Arg427Gln)	NC_000023.10:g.114425284G>A	VUS	1 lab	7a16e784ac
1:24191975 FUCA1 A>G	1	24191975	24191975	A	G	FUCA1	c.524+6T>C	NM_000147.5	NP_000138.2:p.?	NC_000001.10:g.24191975A>G	VUS	1 lab	7a1805209d
X:100117243 NOX1 G>A	X	100117243	100117243	G	A	NOX1	c.721C>T	NM_007052.5	NP_008983.2:p.(Arg241Cys)	NC_000023.10:g.100117243G>A	VUS	1 lab	7a187df100
9:2033036 SMARCA2 C>T	9	2033036	2033036	C	T	SMARCA2	c.310C>T	NM_003070.5	NP_003061.3:p.(Pro104Ser)	NC_000009.11:g.2033036C>T	VUS	1 lab	7a19fc2e33
12:13720093 GRIN2B A>G	12	13720093	13720093	A	G	GRIN2B	c.2464T>C	NM_000834.5	NP_000825.2:p.(Phe822Leu)	NC_000012.11:g.13720093A>G	(Likely) pathogenic	1 lab	7a1b6be1bd
7:48007404 HUS1 G>A	7	48007404	48007404	G	A	HUS1	c.759C>T	NM_004507.4	NP_004498.1:p.(Cys253=)	NC_000007.13:g.48007404G>A	VUS	1 lab	7a1cce2061
2:152410539 NEB G>A	2	152410539	152410539	G	A	NEB	c.19429C>T	NM_001164508.2	NP_001157980.2:p.(Arg6477Cys)	NC_000002.11:g.152410539G>A	VUS	1 lab	7a1e2f46f4
6:88221114 SLC35A1 C>T	6	88221114	88221114	C	T	SLC35A1	c.887-3C>T	NM_006416.5	NP_006407.1:p.?	NC_000006.11:g.88221114C>T	(Likely) benign	1 lab	7a1edea66c
X:38145531 RPGR T>TTCC	X	38145531	38145536	T	TTCC	RPGR	c.2718_2720dup	NM_001034853.2	NP_001030025.1:p.(Glu907dup)	NC_000023.10:g.38145534_38145536dup	VUS	1 lab	7a1f4f2b3c
8:145007449 PLEC G>A	8	145007449	145007449	G	A	PLEC	c.1334C>T	NM_201384.3	NP_958786.1:p.(Ala445Val)	NC_000008.10:g.145007449G>A	VUS	1 lab	7a1f76fbdf
1:152280196 FLG G>T	1	152280196	152280196	G	T	FLG	c.7166C>A	NM_002016.2	NP_002007.1:p.(Ala2389Asp)	NC_000001.10:g.152280196G>T	(Likely) benign	1 lab	7a1ff995a5
X:69572490 KIF4A C>T	X	69572490	69572490	C	T	KIF4A	c.1472C>T	NM_012310.5	NP_036442.3:p.(Ala491Val)	NC_000023.10:g.69572490C>T	(Likely) benign	1 lab	7a206b477e
12:12302026 LRP6 A>AGGTC	12	12302026	12302030	A	AGGTC	LRP6	c.3052_3055dup	NM_002336.3	NP_002327.2:p.(Leu1019ArgfsTer5)	NC_000012.11:g.12302027_12302030dup	VUS	1 lab	7a2274b9c4
X:57618725 ZXDB A>AGCG	X	57618725	57618749	A	AGCG	ZXDB	c.266_268dup	NM_007157.4	NP_009088.1:p.(Gly89dup)	NC_000023.10:g.57618747_57618749dup	VUS	1 lab	7a237ac9d9
X:140993781 MAGEC1 A>ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCT	X	140993781	140993852	A	ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCT	MAGEC1	c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	NM_005462.5	NP_005453.2:p.(Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg)	NC_000023.10:g.140993851_140993852insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	VUS	1 lab	7a23c3171f
17:78055455 CCDC40 C>G	17	78055455	78055455	C	G	CCDC40	c.1673C>G	NM_017950.4	NP_060420.2:p.(Thr558Arg)	NC_000017.10:g.78055455C>G	(Likely) benign	1 lab	7a25725878
X:153051838 IDH3G C>T	X	153051838	153051838	C	T	IDH3G	c.991G>A	NM_004135.4	NP_004126.1:p.(Ala331Thr)	NC_000023.10:g.153051838C>T	VUS	1 lab	7a25a303c7
X:132821279 GPC3 T>C	X	132821279	132821279	T	C	GPC3	c.1292+5118A>G	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132821279T>C	(Likely) benign	1 lab	7a278ec4b2
6:129799911 LAMA2 C>T	6	129799911	129799911	C	T	LAMA2	c.7525C>T	NM_000426.4	NP_000417.3:p.(Leu2509Phe)	NC_000006.11:g.129799911C>T	VUS	1 lab	7a29b4ada6
13:110835342 COL4A1 T>C	13	110835342	110835342	T	C	COL4A1	c.2093A>G	NM_001845.6	NP_001836.3:p.(Lys698Arg)	NC_000013.10:g.110835342T>C	VUS	1 lab	7a2a6a910f
9:108370110 FKTN C>T	9	108370110	108370110	C	T	FKTN	c.658C>T	NM_001079802.2	NP_001073270.1:p.(Gln220Ter)	NC_000009.11:g.108370110C>T	VUS	1 lab	7a2ac3edf2
16:29802142 KIF22 C>T	16	29802142	29802142	C	T	KIF22	c.62C>T	NM_007317.3	NP_015556.1:p.(Ala21Val)	NC_000016.9:g.29802142C>T	VUS	1 lab	7a2d39cd56
12:65564106 LEMD3 G>T	12	65564106	65564106	G	T	LEMD3	c.730G>T	NM_014319.5	NP_055134.2:p.(Val244Leu)	NC_000012.11:g.65564106G>T	(Likely) benign	1 lab	7a2e8fe76f
10:76788311 KAT6B G>C	10	76788311	76788311	G	C	KAT6B	c.3729G>C	NM_012330.4	NP_036462.2:p.(Lys1243Asn)	NC_000010.10:g.76788311G>C	(Likely) benign	1 lab	7a320ef4ae
5:149497292 PDGFRB T>C	5	149497292	149497292	T	C	PDGFRB	c.3026A>G	NM_002609.4	NP_002600.1:p.(Tyr1009Cys)	NC_000005.9:g.149497292T>C	(Likely) benign	1 lab	7a341c0813
3:33055694 GLB1 G>A	3	33055694	33055694	G	A	GLB1	c.1588C>T	NM_000404.4	NP_000395.3:p.(Arg530Cys)	NC_000003.11:g.33055694G>A	(Likely) benign	1 lab	7a348d88b8
19:36213278 KMT2B G>T	19	36213278	36213278	G	T	KMT2B	c.2475G>T	NM_014727.3	NP_055542.1:p.(Gln825His)	NC_000019.9:g.36213278G>T	(Likely) benign	1 lab	7a3850537b
X:40977077 USP9X G>C	X	40977077	40977077	G	C	USP9X	c.-158-5647G>C	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.40977077G>C	(Likely) benign	1 lab	7a3999c3a5
19:41071387 SPTBN4 G>C	19	41071387	41071387	G	C	SPTBN4	c.5974G>C	NM_020971.3	NP_066022.2:p.(Glu1992Gln)	NC_000019.9:g.41071387G>C	VUS	1 lab	7a3ac9002b
5:149500473 PDGFRB G>A	5	149500473	149500473	G	A	PDGFRB	c.2564C>T	NM_002609.4	NP_002600.1:p.(Ser855Leu)	NC_000005.9:g.149500473G>A	(Likely) benign	1 lab	7a3be4acda
22:32242917 DEPDC5 C>G	22	32242917	32242917	C	G	DEPDC5	c.3119C>G	NM_001242896.3	NP_001229825.1:p.(Ala1040Gly)	NC_000022.10:g.32242917C>G	(Likely) benign	1 lab	7a3c3579d5
13:51504843 RNASEH2B C>T	13	51504843	51504843	C	T	RNASEH2B	c.269C>T	NM_024570.4	NP_078846.2:p.(Pro90Leu)	NC_000013.10:g.51504843C>T	VUS	1 lab	7a3c4c7281
11:62397978 GANAB C>T	11	62397978	62397978	C	T	GANAB	c.1387-1G>A	NM_198334.3	NP_938148.1:p.?	NC_000011.9:g.62397978C>T	(Likely) pathogenic	1 lab	7a3c500a13
2:219920580 IHH C>T	2	219920580	219920580	C	T	IHH	c.585G>A	NM_002181.4	NP_002172.2:p.(Ser195=)	NC_000002.11:g.219920580C>T	(Likely) benign	1 lab	7a3e3490e1
4:46995386 GABRA4 G>A	4	46995386	46995386	G	A	GABRA4	c.56C>T	NM_000809.4	NP_000800.2:p.(Ala19Val)	NC_000004.11:g.46995386G>A	(Likely) benign	1 lab	7a3e88aa0b
11:118352702 KMT2A C>G	11	118352702	118352702	C	G	KMT2A	c.3907C>G	NM_001197104.2	NP_001184033.1:p.(Leu1303Val)	NC_000011.9:g.118352702C>G	(Likely) benign	1 lab	7a3f20ca98
X:82764062 POU3F4 A>G	X	82764062	82764062	A	G	POU3F4	c.730A>G	NM_000307.5	NP_000298.3:p.(Asn244Asp)	NC_000023.10:g.82764062A>G	VUS	1 lab	7a3f469172
9:732433 KANK1 T>C	9	732433	732433	T	C	KANK1	c.3061T>C	NM_015158.5	NP_055973.2:p.(Ser1021Pro)	NC_000009.11:g.732433T>C	VUS	1 lab	7a40485b54
20:36026134 SRC A>C	20	36026134	36026134	A	C	SRC	c.736A>C	NM_198291.3	NP_938033.1:p.(Thr246Pro)	NC_000020.10:g.36026134A>C	(Likely) benign	1 lab	7a4154a9a7
X:3238585 MXRA5 A>G	X	3238585	3238585	A	G	MXRA5	c.5141T>C	NM_015419.4	NP_056234.2:p.(Val1714Ala)	NC_000023.10:g.3238585A>G	VUS	1 lab	7a41a003f2
6:117241459 RFX6 C>T	6	117241459	117241459	C	T	RFX6	c.1183-14C>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117241459C>T	(Likely) benign	1 lab	7a422be4fc
15:90216657 PLIN1 G>C	15	90216657	90216657	G	C	PLIN1	c.46-12C>G	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90216657G>C	(Likely) benign	1 lab	7a4280920c
7:151945502 KMT2C G>T	7	151945502	151945502	G	T	KMT2C	c.2017C>A	NM_170606.3	NP_733751.2:p.(Pro673Thr)	NC_000007.13:g.151945502G>T	(Likely) benign	1 lab	7a43180f81
13:23915230 SACS G>A	13	23915230	23915230	G	A	SACS	c.2785C>T	NM_014363.6	NP_055178.3:p.(Arg929Cys)	NC_000013.10:g.23915230G>A	VUS	1 lab	23875a2951
21:47421979 COL6A1 C>A	21	47421979	47421979	C	A	COL6A1	c.2061C>A	NM_001848.3	NP_001839.2:p.(Leu687=)	NC_000021.8:g.47421979C>A	(Likely) benign	1 lab	7a452c768c
16:20788905 ACSM3 G>A	16	20788905	20788905	G	A	ACSM3	c.638+3G>A	NM_005622.4	NP_005613.2:p.?	NC_000016.9:g.20788905G>A	VUS	1 lab	7a461627ff
12:7343088 PEX5 C>G	12	7343088	7343088	C	G	PEX5	c.115C>G	NM_001351132.2	NP_001338061.1:p.(Pro39Ala)	NC_000012.11:g.7343088C>G	VUS	1 lab	7a461f40c3
4:126370423 FAT4 C>T	4	126370423	126370423	C	T	FAT4	c.8258C>T	NM_001291303.3	NP_001278232.1:p.(Pro2753Leu)	NC_000004.11:g.126370423C>T	VUS	1 lab	7a47fe9845
17:42336647 SLC4A1 C>T	17	42336647	42336647	C	T	SLC4A1	c.760G>A	NM_000342.4	NP_000333.1:p.(Glu254Lys)	NC_000017.10:g.42336647C>T	VUS	1 lab	7a48aff62f
10:117607445 ATRNL1 A>G	10	117607445	117607445	A	G	ATRNL1	c.3961A>G	NM_207303.4	NP_997186.1:p.(Thr1321Ala)	NC_000010.10:g.117607445A>G	(Likely) benign	1 lab	7a492c3555
15:75648650 MAN2C1 C>T	15	75648650	75648650	C	T	MAN2C1	c.2878G>A	NM_006715.4	NP_006706.2:p.(Val960Ile)	NC_000015.9:g.75648650C>T	(Likely) benign	1 lab	7a495ae39f
22:50960191 NCAPH2 C>G	22	50960191	50960191	C	G	NCAPH2	c.1022C>G	NM_152299.4	NP_689512.2:p.(Pro341Arg)	NC_000022.10:g.50960191C>G	(Likely) benign	1 lab	7a49dff77c
1:27878353 AHDC1 C>T	1	27878353	27878353	C	T	AHDC1	c.274G>A	NM_001371928.1	NP_001358857.1:p.(Val92Ile)	NC_000001.10:g.27878353C>T	(Likely) benign	1 lab	7a4af919fc
1:8384585 SLC45A1 A>C	1	8384585	8384585	A	C	SLC45A1	c.196A>C	NM_001080397.3	NP_001073866.3:p.(Thr66Pro)	NC_000001.10:g.8384585A>C	(Likely) benign	1 lab	7a4b972449
13:32910957 BRCA2 G>A	13	32910957	32910957	G	A	BRCA2	c.2465G>A	NM_000059.4	NP_000050.3:p.(Cys822Tyr)	NC_000013.10:g.32910957G>A	(Likely) benign	1 lab	7a4c5deaa6
9:73151296 TRPM3 G>A	9	73151296	73151296	G	A	TRPM3	c.4733C>T	NM_001366145.2	NP_001353074.1:p.(Ala1578Val)	NC_000009.11:g.73151296G>A	VUS	1 lab	7a4e149f77
20:57415366 GNAS-AS1 C>A	20	57415366	57415366	C	A	GNAS-AS1	n.672+1626G>T	NR_185847.1		NC_000020.10:g.57415366C>A	(Likely) benign	1 lab	7a4ea137b7
X:37962315 SYTL5 C>T	X	37962315	37962315	C	T	SYTL5	c.1155+628C>T	NM_138780.3	NP_620135.1:p.?	NC_000023.10:g.37962315C>T	VUS	1 lab	7a51920bc3
18:19761476 GATA6 G>A	18	19761476	19761476	G	A	GATA6	c.1365G>A	NM_005257.6	NP_005248.2:p.(Trp455Ter)	NC_000018.9:g.19761476G>A	VUS	1 lab	7a56c6fef0
17:3447921 TRPV3 G>A	17	3447921	3447921	G	A	TRPV3	c.263C>T	NM_145068.4	NP_659505.1:p.(Ser88Phe)	NC_000017.10:g.3447921G>A	(Likely) benign	1 lab	7a57d6405e
20:10632900 JAG1 T>C	20	10632900	10632900	T	C	JAG1	c.887-2A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10632900T>C	(Likely) pathogenic	1 lab	23889db872
15:90209001 PLIN1 C>T	15	90209001	90209001	C	T	PLIN1	c.1382G>A	NM_002666.5	NP_002657.3:p.(Ser461Asn)	NC_000015.9:g.90209001C>T	(Likely) benign	1 lab	7a6aa4ab99
1:50887013 DMRTA2 G>A	1	50887013	50887013	G	A	DMRTA2	c.196C>T	NM_032110.3	NP_115486.1:p.(Arg66Trp)	NC_000001.10:g.50887013G>A	VUS	1 lab	7a6ac23b1f
2:179312316 PRKRA G>GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCAC	2	179312316	179312317	G	GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCAC	PRKRA	c.236-4_236-3insGTGAAAGATCTGGTGTGCAAATACACGTGCCCACTTTCACCTTCAGAGTAACCGTTGGTGACATAACCTGCA	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179312316_179312317insTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCAC	(Likely) benign	1 lab	7a5db99686
11:1471807 BRSK2 C>T	11	1471807	1471807	C	T	BRSK2	c.1288-10C>T	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1471807C>T	(Likely) benign	1 lab	7a5e0c2d01
6:30632757 DHX16 G>A	6	30632757	30632757	G	A	DHX16	c.1138C>T	NM_003587.5	NP_003578.2:p.(Pro380Ser)	NC_000006.11:g.30632757G>A	(Likely) benign	1 lab	7a5e6fdecb
10:71119761 HK1 A>G	10	71119761	71119761	A	G	HK1	c.335A>G	NM_000188.3	NP_000179.2:p.(Tyr112Cys)	NC_000010.10:g.71119761A>G	VUS	1 lab	7a5f426329
12:55421026 NEUROD4 A>G	12	55421026	55421026	A	G	NEUROD4	c.803A>G	NM_021191.3	NP_067014.2:p.(Asp268Gly)	NC_000012.11:g.55421026A>G	(Likely) benign	1 lab	7a614125d5
6:51750784 PKHD1 C>T	6	51750784	51750784	C	T	PKHD1	c.7110-14G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51750784C>T	(Likely) benign	1 lab	7a615eb1e8
7:94057039 COL1A2 G>C	7	94057039	94057039	G	C	COL1A2	c.3368G>C	NM_000089.4	NP_000080.2:p.(Arg1123Pro)	NC_000007.13:g.94057039G>C	VUS	1 lab	7a6171756b
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.121-24_121-3dup	NM_201596.3	NP_963890.2:p.?	NC_000010.10:g.18439788_18439809dup	VUS	1 lab	7a61f5116e
10:101544467 ABCC2 T>C	10	101544467	101544467	T	C	ABCC2	c.136T>C	NM_000392.5	NP_000383.2:p.(Trp46Arg)	NC_000010.10:g.101544467T>C	VUS	1 lab	2388d7d106
9:123206024 CDK5RAP2 C>T	9	123206024	123206024	C	T	CDK5RAP2	c.3026-4G>A	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123206024C>T	VUS	1 lab	2389cacbf2
16:2164922 PKD1 G>T	16	2164922	2164922	G	T	PKD1	c.2102C>A	NM_001009944.3	NP_001009944.3:p.(Thr701Asn)	NC_000016.9:g.2164922G>T	(Likely) benign	1 lab	7a67b76259
17:60599638 TLK2 G>A	17	60599638	60599638	G	A	TLK2	c.223+4G>A	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60599638G>A	(Likely) benign	1 lab	7a680ea2e6
4:123748127 FGF2 G>A	4	123748127	123748127	G	A	FGF2	c.-203G>A	NM_001361665.2	NP_001348594.1:p.?	NC_000004.11:g.123748127G>A	(Likely) benign	1 lab	7a681361a1
10:124799975 ACADSB T>C	10	124799975	124799975	T	C	ACADSB	c.304-7T>C	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124799975T>C	(Likely) benign	1 lab	7a6d684102
3:139097004 COPB2 C>G	3	139097004	139097004	C	G	COPB2	c.383G>C	NM_004766.3	NP_004757.1:p.(Trp128Ser)	NC_000003.11:g.139097004C>G	VUS	1 lab	7a6dedf95c
5:127419881 SLC12A2 A>C	5	127419881	127419881	A	C	SLC12A2	c.235A>C	NM_001046.3	NP_001037.1:p.(Ser79Arg)	NC_000005.9:g.127419881A>C	VUS	1 lab	7a6e322295
19:58948586 ZNF132 A>C	19	58948586	58948586	A	C	ZNF132	c.64-4T>G	NM_003433.4	NP_003424.3:p.?	NC_000019.9:g.58948586A>C	(Likely) benign	1 lab	7a6efce41d
15:75684574 SIN3A G>A	15	75684574	75684574	G	A	SIN3A	c.2851+9C>T	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75684574G>A	(Likely) benign	1 lab	7a6f9ea3d8
15:99467111 IGF1R C>T	15	99467111	99467111	C	T	IGF1R	c.2492C>T	NM_000875.5	NP_000866.1:p.(Ala831Val)	NC_000015.9:g.99467111C>T	VUS	1 lab	7a7054ebf5
21:47766760 PCNT C>T	21	47766760	47766760	C	T	PCNT	c.824C>T	NM_006031.6	NP_006022.3:p.(Thr275Met)	NC_000021.8:g.47766760C>T	VUS	1 lab	7a7342869c
17:11656180 DNAH9 C>A	17	11656180	11656180	C	A	DNAH9	c.6641C>A	NM_001372.4	NP_001363.2:p.(Ala2214Asp)	NC_000017.10:g.11656180C>A	VUS	1 lab	7a742867ef
22:41919949 ACO2 A>T	22	41919949	41919949	A	T	ACO2	c.1482+4A>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41919949A>T	VUS	1 lab	7a74339032
2:184024269 NUP35 T>A	2	184024269	184024269	T	A	NUP35	c.792T>A	NM_138285.5	NP_612142.2:p.(Phe264Leu)	NC_000002.11:g.184024269T>A	VUS	1 lab	7a74af736c
15:28389056 HERC2 C>T	15	28389056	28389056	C	T	HERC2	c.11381G>A	NM_004667.6	NP_004658.3:p.(Arg3794Lys)	NC_000015.9:g.28389056C>T	(Likely) benign	1 lab	7a756e1fe3
12:120295326 CIT C>T	12	120295326	120295326	C	T	CIT	c.414+1G>A	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120295326C>T	VUS	1 lab	7a758c8184
6:42946748 PEX6 CG>C	6	42946748	42946751	CG	C	PEX6	c.140del	NM_000287.4	NP_000278.3:p.(Pro47ArgfsTer57)	NC_000006.11:g.42946751del	(Likely) pathogenic	1 lab	7a76209bee
X:79937971 BRWD3 C>T	X	79937971	79937971	C	T	BRWD3	c.4390G>A	NM_153252.5	NP_694984.5:p.(Ala1464Thr)	NC_000023.10:g.79937971C>T	VUS	1 lab	7a77c313d8
13:32906639 BRCA2 GA>G	13	32906639	32906644	GA	G	BRCA2	c.1029del	NM_000059.4	NP_000050.3:p.(Lys343AsnfsTer6)	NC_000013.10:g.32906644del	(Likely) pathogenic	1 lab	7a78321ee3
2:238243382 COL6A3 G>A	2	238243382	238243382	G	A	COL6A3	c.9116C>T	NM_004369.4	NP_004360.2:p.(Thr3039Met)	NC_000002.11:g.238243382G>A	VUS	1 lab	7a78b937cc
19:39229110 CAPN12 G>A	19	39229110	39229110	G	A	CAPN12	c.838C>T	NM_144691.4	NP_653292.2:p.(Arg280Trp)	NC_000019.9:g.39229110G>A	VUS	1 lab	7a79dc0cb7
22:45938122 FBLN1 A>G	22	45938122	45938122	A	G	FBLN1	c.1154A>G	NM_006486.3	NP_006477.3:p.(Lys385Arg)	NC_000022.10:g.45938122A>G	(Likely) benign	1 lab	7a7a76b2bc
5:176637759 NSD1 T>A	5	176637759	176637759	T	A	NSD1	c.2359T>A	NM_022455.5	NP_071900.2:p.(Phe787Ile)	NC_000005.9:g.176637759T>A	(Likely) benign	1 lab	7a7ad07e12
15:89401245 ACAN C>G	15	89401245	89401245	C	G	ACAN	c.5429C>G	NM_001369268.1	NP_001356197.1:p.(Ser1810Ter)	NC_000015.9:g.89401245C>G	(Likely) pathogenic	1 lab	7a7bf34ddb
20:62305451 RTEL1 G>A	20	62305451	62305451	G	A	RTEL1	c.919+5G>A	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62305451G>A	(Likely) benign	1 lab	7a7cda1396
1:16350417 CLCNKA G>T	1	16350417	16350417	G	T	CLCNKA	c.223G>T	NM_004070.4	NP_004061.3:p.(Val75Phe)	NC_000001.10:g.16350417G>T	(Likely) benign	1 lab	7a7fc35e56
4:56851462 CEP135 A>G	4	56851462	56851462	A	G	CEP135	c.1795A>G	NM_025009.5	NP_079285.2:p.(Ser599Gly)	NC_000004.11:g.56851462A>G	VUS	1 lab	7a8016f77f
1:65306997 JAK1 T>G	1	65306997	65306997	T	G	JAK1	c.2580A>C	NM_002227.4	NP_002218.2:p.(Lys860Asn)	NC_000001.10:g.65306997T>G	(Likely) benign	1 lab	7a817676ff
X:140993360 MAGEC1 G>T	X	140993360	140993360	G	T	MAGEC1	c.170G>T	NM_005462.5	NP_005453.2:p.(Arg57Leu)	NC_000023.10:g.140993360G>T	(Likely) benign	1 lab	7a841d6cc6
16:15045634 NPIPA1 T>C	16	15045634	15045634	T	C	NPIPA1	c.805T>C	NM_006985.4	NP_008916.2:p.(Cys269Arg)	NC_000016.9:g.15045634T>C	(Likely) benign	1 lab	7a8a609293
X:148797426 MAGEA11 A>C	X	148797426	148797426	A	C	MAGEA11	c.280A>C	NM_005366.5	NP_005357.2:p.(Ile94Leu)	NC_000023.10:g.148797426A>C	(Likely) benign	1 lab	7a8a6b6f08
15:89386688 ACAN A>G	15	89386688	89386688	A	G	ACAN	c.860A>G	NM_001369268.1	NP_001356197.1:p.(Tyr287Cys)	NC_000015.9:g.89386688A>G	VUS	1 lab	7a8bd4bd75
9:101558676 ANKS6 G>A	9	101558676	101558676	G	A	ANKS6	c.98C>T	NM_173551.5	NP_775822.3:p.(Ala33Val)	NC_000009.11:g.101558676G>A	VUS	1 lab	7a8c762b02
3:9987943 PRRT3 G>C	3	9987943	9987943	G	C	PRRT3	c.2914C>G	NM_207351.5	NP_997234.3:p.(Arg972Gly)	NC_000003.11:g.9987943G>C	(Likely) benign	1 lab	7a8db03506
1:24189764 FUCA1 T>TAAACAGAA	1	24189764	24189780	T	TAAACAGAA	FUCA1	c.525-11_525-4dup	NM_000147.5	NP_000138.2:p.?	NC_000001.10:g.24189773_24189780dup	(Likely) benign	1 lab	7a8eb6fe10
1:27089626 ARID1A C>T	1	27089626	27089626	C	T	ARID1A	c.2582C>T	NM_006015.6	NP_006006.3:p.(Ala861Val)	NC_000001.10:g.27089626C>T	(Likely) benign	1 lab	7a8f8e372c
20:43057133 HNF4A C>A	20	43057133	43057133	C	A	HNF4A	c.1282+6C>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43057133C>A	(Likely) benign	1 lab	7a8fc56b97
22:26706745 SEZ6L A>G	22	26706745	26706745	A	G	SEZ6L	c.1624A>G	NM_021115.5	NP_066938.2:p.(Ile542Val)	NC_000022.10:g.26706745A>G	VUS	1 lab	7a906604c5
12:88524064 CEP290 T>C	12	88524064	88524064	T	C	CEP290	c.650A>G	NM_025114.4	NP_079390.3:p.(Gln217Arg)	NC_000012.11:g.88524064T>C	(Likely) benign	1 lab	7a9131b191
16:2812949 SRRM2 A>C	16	2812949	2812949	A	C	SRRM2	c.2420A>C	NM_016333.4	NP_057417.3:p.(Lys807Thr)	NC_000016.9:g.2812949A>C	VUS	1 lab	7a92c57c13
9:3330432 RFX3 C>A	9	3330432	3330432	C	A	RFX3	c.301G>T	NM_001282116.2	NP_001269045.1:p.(Ala101Ser)	NC_000009.11:g.3330432C>A	(Likely) benign	1 lab	7a93550e3e
15:40913132 KNL1 A>G	15	40913132	40913132	A	G	KNL1	c.670A>G	NM_144508.5	NP_653091.3:p.(Thr224Ala)	NC_000015.9:g.40913132A>G	(Likely) benign	1 lab	7a95eb576f
15:89416267 ACAN G>A	15	89416267	89416267	G	A	ACAN	c.7447+11G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89416267G>A	(Likely) benign	1 lab	7a9644f206
9:134514167 RAPGEF1 G>C	9	134514167	134514167	G	C	RAPGEF1	c.506C>G	NM_001377935.1	NP_001364864.1:p.(Ser169Cys)	NC_000009.11:g.134514167G>C	VUS	1 lab	7a964e3bd0
14:23854186 MYH6 A>C	14	23854186	23854186	A	C	MYH6	c.5228T>G	NM_002471.4	NP_002462.2:p.(Val1743Gly)	NC_000014.8:g.23854186A>C	VUS	1 lab	7a972e0109
4:79462219 FRAS1 A>G	4	79462219	79462219	A	G	FRAS1	c.11980A>G	NM_025074.7	NP_079350.5:p.(Lys3994Glu)	NC_000004.11:g.79462219A>G	VUS	1 lab	7a9afec9c5
6:107050773 RTN4IP1 G>A	6	107050773	107050773	G	A	RTN4IP1	c.645C>T	NM_032730.5	NP_116119.2:p.(Gly215=)	NC_000006.11:g.107050773G>A	(Likely) benign	1 lab	7a9d1df3fe
1:196714940 CFH T>C	1	196714940	196714940	T	C	CFH	c.3311-7T>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196714940T>C	(Likely) benign	1 lab	24fcedd822
11:73675962 DNAJB13 T>G	11	73675962	73675962	T	G	DNAJB13	c.374T>G	NM_153614.4	NP_705842.2:p.(Phe125Cys)	NC_000011.9:g.73675962T>G	(Likely) benign	1 lab	7a9f7cddae
12:42499654 GXYLT1 A>G	12	42499654	42499654	A	G	GXYLT1	c.830T>C	NM_173601.2	NP_775872.1:p.(Met277Thr)	NC_000012.11:g.42499654A>G	VUS	1 lab	7a9fa59535
1:154680734 KCNN3 C>G	1	154680734	154680734	C	G	KCNN3	c.1914G>C	NM_002249.6	NP_002240.3:p.(Met638Ile)	NC_000001.10:g.154680734C>G	(Likely) benign	1 lab	7a9fd69bb0
9:129456098 LMX1B C>CGG	9	129456098	129456102	C	CGG	LMX1B	c.886+10_886+11dup	NM_001174147.2	NP_001167618.1:p.?	NC_000009.11:g.129456101_129456102dup	(Likely) benign	1 lab	7a9ff05cf7
12:56536638 ESYT1 G>A	12	56536638	56536638	G	A	ESYT1	c.2908G>A	NM_015292.3	NP_056107.1:p.(Gly970Arg)	NC_000012.11:g.56536638G>A	(Likely) benign	1 lab	7aa1a79aea
10:89472955 PAPSS2 G>A	10	89472955	89472955	G	A	PAPSS2	c.269G>A	NM_001015880.2	NP_001015880.1:p.(Gly90Glu)	NC_000010.10:g.89472955G>A	VUS	1 lab	7aa27c85f6
17:19285370 MAPK7 C>G	17	19285370	19285370	C	G	MAPK7	c.1754C>G	NM_002749.4	NP_002740.2:p.(Ser585Cys)	NC_000017.10:g.19285370C>G	VUS	1 lab	7aa2ea2ed1
5:64867979 PPWD1 T>C	5	64867979	64867979	T	C	PPWD1	c.835T>C	NM_015342.4	NP_056157.1:p.(Cys279Arg)	NC_000005.9:g.64867979T>C	VUS	1 lab	7aa34b5155
6:1611439 FOXC1 G>T	6	1611439	1611439	G	T	FOXC1	c.759G>T	NM_001453.3	NP_001444.2:p.(Ala253=)	NC_000006.11:g.1611439G>T	(Likely) benign	1 lab	7aa5e5540f
11:63993285 TRPT1 AC>A	11	63993285	63993289	AC	A	TRPT1	c.47del	NM_001033678.4	NP_001028850.2:p.(Gly16ValfsTer29)	NC_000011.9:g.63993289del	VUS	1 lab	7aa700df92
17:76455129 DNAH17 A>T	17	76455129	76455129	A	T	DNAH17	c.9815T>A	NM_173628.4	NP_775899.3:p.(Leu3272Gln)	NC_000017.10:g.76455129A>T	VUS	1 lab	7aa7168634
X:15607532 ACE2 C>T	X	15607532	15607532	C	T	ACE2	c.631G>A	NM_001371415.1	NP_001358344.1:p.(Gly211Arg)	NC_000023.10:g.15607532C>T	(Likely) benign	1 lab	7aa75bce06
17:38787104 SMARCE1 G>A	17	38787104	38787104	G	A	SMARCE1	c.889C>T	NM_003079.5	NP_003070.3:p.(Arg297Cys)	NC_000017.10:g.38787104G>A	VUS	1 lab	238ae02bbd
13:28498414 PDX1 CGGA>C	13	28498414	28498421	CGGA	C	PDX1	c.433_435del	NM_000209.4	NP_000200.1:p.(Glu145del)	NC_000013.10:g.28498419_28498421del	VUS	1 lab	7aa98396a9
11:7673083 PPFIBP2 G>T	11	7673083	7673083	G	T	PPFIBP2	c.2436+8G>T	NM_003621.5	NP_003612.3:p.?	NC_000011.9:g.7673083G>T	(Likely) benign	1 lab	7aa9e573b5
2:152432756 NEB T>C	2	152432756	152432756	T	C	NEB	c.16817A>G	NM_001164508.2	NP_001157980.2:p.(Tyr5606Cys)	NC_000002.11:g.152432756T>C	VUS	1 lab	7aaadb6fad
X:70680560 TAF1 A>G	X	70680560	70680560	A	G	TAF1	c.5306A>G	NM_004606.5	NP_004597.3:p.(Asn1769Ser)	NC_000023.10:g.70680560A>G	(Likely) benign	1 lab	7aaccd5a83
12:46271356 ARID2 G>A	12	46271356	46271356	G	A	ARID2	c.4923-14207G>A	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46271356G>A	(Likely) benign	1 lab	7aafed92f7
16:71103407 HYDIN T>C	16	71103407	71103407	T	C	HYDIN	c.1739-2A>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71103407T>C	(Likely) pathogenic	1 lab	7ab03c5d9d
10:75408370 SYNPO2L G>T	10	75408370	75408370	G	T	SYNPO2L	c.1040C>A	NM_001114133.3	NP_001107605.1:p.(Thr347Asn)	NC_000010.10:g.75408370G>T	(Likely) benign	1 lab	7ab1cef247
3:9517449 SETD5 C>A	3	9517449	9517449	C	A	SETD5	c.4003C>A	NM_001080517.3	NP_001073986.1:p.(Leu1335Ile)	NC_000003.11:g.9517449C>A	(Likely) benign	1 lab	7ab2bedca6
20:20505116 RALGAPA2 G>A	20	20505116	20505116	G	A	RALGAPA2	c.3834C>T	NM_020343.4	NP_065076.2:p.(Pro1278=)	NC_000020.10:g.20505116G>A	VUS	1 lab	7ab3efed51
10:96354481 HELLS T>C	10	96354481	96354481	T	C	HELLS	c.2256T>C	NM_001289067.1	NP_001275996.1:p.(Asp752=)	NC_000010.10:g.96354481T>C	(Likely) benign	1 lab	24fe99a9f1
19:36223989 KMT2B C>T	19	36223989	36223989	C	T	KMT2B	c.6539C>T	NM_014727.3	NP_055542.1:p.(Ala2180Val)	NC_000019.9:g.36223989C>T	(Likely) benign	1 lab	7ab844f7c0
X:37967899 SYTL5 C>T	X	37967899	37967899	C	T	SYTL5	c.1381C>T	NM_138780.3	NP_620135.1:p.(Arg461Cys)	NC_000023.10:g.37967899C>T	VUS	1 lab	7ab934b616
15:89402489 ACAN C>T	15	89402489	89402489	C	T	ACAN	c.6673C>T	NM_001369268.1	NP_001356197.1:p.(Gln2225Ter)	NC_000015.9:g.89402489C>T	(Likely) pathogenic	1 lab	7abae5f941
7:106964956 COG5 G>A	7	106964956	106964956	G	A	COG5	c.1037C>T	NM_006348.5	NP_006339.4:p.(Pro346Leu)	NC_000007.13:g.106964956G>A	(Likely) benign	1 lab	7abd69dd5d
3:49053230 DALRD3 T>C	3	49053230	49053230	T	C	DALRD3	c.1512+7A>G	NM_001009996.3	NP_001009996.1:p.?	NC_000003.11:g.49053230T>C	(Likely) benign	1 lab	7abe58d3df
4:159616695 ETFDH T>C	4	159616695	159616695	T	C	ETFDH	c.731T>C	NM_004453.4	NP_004444.2:p.(Phe244Ser)	NC_000004.11:g.159616695T>C	VUS	1 lab	7abf7205c6
18:19378072 MIB1 C>T	18	19378072	19378072	C	T	MIB1	c.1120C>T	NM_020774.4	NP_065825.1:p.(Gln374Ter)	NC_000018.9:g.19378072C>T	VUS	1 lab	7abf785209
15:89379428 ACAN C>T	15	89379428	89379428	C	T	ACAN	c.-7-3C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89379428C>T	VUS	1 lab	7abfed4cc8
1:209961851 IRF6 A>G	1	209961851	209961851	A	G	IRF6	c.1318T>C	NM_006147.4	NP_006138.1:p.(Tyr440His)	NC_000001.10:g.209961851A>G	VUS	1 lab	7ac056c454
12:114803648 TBX5 A>ATC	12	114803648	114803649	A	ATC	TBX5	c.982+321_982+322insGA	NM_181486.4	NP_852259.1:p.?	NC_000012.11:g.114803648_114803649insTC	(Likely) benign	1 lab	7ac13d5050
16:602713 CAPN15 C>T	16	602713	602713	C	T	CAPN15	c.2846C>T	NM_005632.3	NP_005623.1:p.(Pro949Leu)	NC_000016.9:g.602713C>T	VUS	1 lab	7ac161d997
12:49434870 KMT2D G>A	12	49434870	49434870	G	A	KMT2D	c.6683C>T	NM_003482.4	NP_003473.3:p.(Thr2228Ile)	NC_000012.11:g.49434870G>A	VUS	1 lab	7ac48c2450
X:37587515 XK C>T	X	37587515	37587515	C	T	XK	c.1135C>T	NM_021083.4	NP_066569.1:p.(Leu379Phe)	NC_000023.10:g.37587515C>T	VUS	1 lab	7ac4ef73cd
13:110864831 COL4A1 A>G	13	110864831	110864831	A	G	COL4A1	c.325-5T>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110864831A>G	VUS	1 lab	7ac65afc10
8:94817106 TMEM67 G>A	8	94817106	94817106	G	A	TMEM67	c.2439G>A	NM_153704.6	NP_714915.3:p.(Ala813=)	NC_000008.10:g.94817106G>A	(Likely) pathogenic	1 lab	7ac8ad814a
10:78761273 KCNMA1 C>T	10	78761273	78761273	C	T	KCNMA1	c.2158G>A	NM_001161352.2	NP_001154824.1:p.(Asp720Asn)	NC_000010.10:g.78761273C>T	VUS	1 lab	7aca4e8288
16:28836941 ATXN2L A>G	16	28836941	28836941	A	G	ATXN2L	c.337-4A>G	NM_007245.4	NP_009176.2:p.?	NC_000016.9:g.28836941A>G	(Likely) benign	1 lab	7acb05fd51
19:38986923 RYR1 C>T	19	38986923	38986923	C	T	RYR1	c.6617C>T	NM_000540.3	NP_000531.2:p.(Thr2206Met)	NC_000019.9:g.38986923C>T	(Likely) pathogenic	1 lab	7accb12a3b
9:108337323 FKTN A>T	9	108337323	108337323	A	T	FKTN	c.10A>T	NM_001079802.2	NP_001073270.1:p.(Ile4Phe)	NC_000009.11:g.108337323A>T	VUS	1 lab	7acd88a3ca
X:68381356 PJA1 C>T	X	68381356	68381356	C	T	PJA1	c.1561G>A	NM_001032396.4	NP_001027568.1:p.(Ala521Thr)	NC_000023.10:g.68381356C>T	(Likely) benign	1 lab	7acd9bea21
1:22421098 CDC42 A>T	1	22421098	22421098	A	T	CDC42	c.*3088A>T	NM_001791.4	NP_001782.1:p.?	NC_000001.10:g.22421098A>T	VUS	1 lab	7acdb2ad7f
19:17449798 GTPBP3 CGAGGATGACAACCTG>C	19	17449798	17449818	CGAGGATGACAACCTG	C	GTPBP3	c.633_647del	NM_032620.4	NP_116009.2:p.(Asp211_Glu215del)	NC_000019.9:g.17449804_17449818del	VUS	1 lab	7acdc87e91
12:7084479 EMG1 G>A	12	7084479	7084479	G	A	EMG1	c.560G>A	NM_006331.8	NP_006322.4:p.(Arg187His)	NC_000012.11:g.7084479G>A	(Likely) benign	1 lab	7ad1049cce
17:10310330 MYH8 A>C	17	10310330	10310330	A	C	MYH8	c.1966-34T>G	NM_002472.3	NP_002463.2:p.?	NC_000017.10:g.10310330A>C	(Likely) benign	1 lab	7ad10676f4
8:55370835 SOX17 G>A	8	55370835	55370835	G	A	SOX17	c.137G>A	NM_022454.4	NP_071899.1:p.(Gly46Asp)	NC_000008.10:g.55370835G>A	VUS	1 lab	7ad3f5b16f
11:64518016 PYGM G>A	11	64518016	64518016	G	A	PYGM	c.2009C>T	NM_005609.4	NP_005600.1:p.(Ala670Val)	NC_000011.9:g.64518016G>A	(Likely) benign	1 lab	7ad428a9f5
17:26948138 BLTP2 T>C	17	26948138	26948138	T	C	BLTP2	c.5110A>G	NM_014680.5	NP_055495.2:p.(Ile1704Val)	NC_000017.10:g.26948138T>C	VUS	1 lab	7ad44cb860
5:168111021 SLIT3 G>A	5	168111021	168111021	G	A	SLIT3	c.3636C>T	NM_003062.3	NP_003053.1:p.(His1212=)	NC_000005.9:g.168111021G>A	(Likely) benign	1 lab	25045805e8
19:7706736 STXBP2 G>A	19	7706736	7706736	G	A	STXBP2	c.575G>A	NM_006949.4	NP_008880.2:p.(Arg192His)	NC_000019.9:g.7706736G>A	VUS	1 lab	7ad7238c80
17:62020376 SCN4A G>T	17	62020376	62020376	G	T	SCN4A	c.4098C>A	NM_000334.4	NP_000325.4:p.(Asn1366Lys)	NC_000017.10:g.62020376G>T	(Likely) pathogenic	1 lab	7ad78a2767
3:49139340 QARS1 G>GA	3	49139340	49139342	G	GA	QARS1	c.632-9dup	NM_005051.3	NP_005042.1:p.?	NC_000003.11:g.49139342dup	(Likely) benign	1 lab	7ad8f9d7a9
7:151833996 KMT2C T>C	7	151833996	151833996	T	C	KMT2C	c.14657A>G	NM_170606.3	NP_733751.2:p.(Tyr4886Cys)	NC_000007.13:g.151833996T>C	(Likely) benign	1 lab	7ada86b4b2
12:120941890 COQ5 C>T	12	120941890	120941890	C	T	COQ5	c.771-6G>A	NM_032314.4	NP_115690.3:p.?	NC_000012.11:g.120941890C>T	(Likely) benign	1 lab	7adc306611
21:47836290 PCNT A>G	21	47836290	47836290	A	G	PCNT	c.6458A>G	NM_006031.6	NP_006022.3:p.(Asn2153Ser)	NC_000021.8:g.47836290A>G	VUS	1 lab	7adc3c4daa
3:192516468 MB21D2 G>A	3	192516468	192516468	G	A	MB21D2	c.1183C>T	NM_178496.4	NP_848591.2:p.(Leu395Phe)	NC_000003.11:g.192516468G>A	VUS	1 lab	7adee1f942
9:101546416 ANKS6 T>C	9	101546416	101546416	T	C	ANKS6	c.931A>G	NM_173551.5	NP_775822.3:p.(Ile311Val)	NC_000009.11:g.101546416T>C	VUS	1 lab	25068f271c
19:36218507 KMT2B T>C	19	36218507	36218507	T	C	KMT2B	c.4286T>C	NM_014727.3	NP_055542.1:p.(Leu1429Pro)	NC_000019.9:g.36218507T>C	VUS	1 lab	7adf4d2597
1:162473570 UHMK1 C>G	1	162473570	162473570	C	G	UHMK1	c.780C>G	NM_175866.5	NP_787062.1:p.(His260Gln)	NC_000001.10:g.162473570C>G	VUS	1 lab	7ae0e39d1f
6:5187217 LYRM4 TA>T	6	5187217	5187232	TA	T	LYRM4	c.207+29633del	NM_020408.6	NP_065141.3:p.?	NC_000006.11:g.5187232del	VUS	1 lab	7ae1e8087f
18:19752111 GATA6 C>T	18	19752111	19752111	C	T	GATA6	c.1006C>T	NM_005257.6	NP_005248.2:p.(Pro336Ser)	NC_000018.9:g.19752111C>T	(Likely) benign	1 lab	7ae23a831a
16:31372387 ITGAX G>A	16	31372387	31372387	G	A	ITGAX	c.865G>A	NM_000887.5	NP_000878.2:p.(Gly289Arg)	NC_000016.9:g.31372387G>A	VUS	1 lab	7ae495fa09
11:47460268 RAPSN C>G	11	47460268	47460268	C	G	RAPSN	c.1166+15G>C	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47460268C>G	(Likely) benign	1 lab	7ae4c852ab
12:56088723 ITGA7 G>T	12	56088723	56088723	G	T	ITGA7	c.2035C>A	NM_002206.3	NP_002197.2:p.(Leu679Met)	NC_000012.11:g.56088723G>T	(Likely) benign	1 lab	7ae57a73a2
2:71909798 DYSF C>T	2	71909798	71909798	C	T	DYSF	c.6312C>T	NM_001130987.2	NP_001124459.1:p.(Tyr2104=)	NC_000002.11:g.71909798C>T	(Likely) benign	1 lab	7ae6f34997
2:220285614 DES T>A	2	220285614	220285614	T	A	DES	c.962T>A	NM_001927.4	NP_001918.3:p.(Met321Lys)	NC_000002.11:g.220285614T>A	VUS	1 lab	7ae8310be5
11:112832391 NCAM1 A>AT	11	112832391	112832405	A	AT	NCAM1	c.52+19dup	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.112832405dup	(Likely) benign	1 lab	7aeb44cd4b
12:102158969 GNPTAB C>T	12	102158969	102158969	C	T	GNPTAB	c.1726G>A	NM_024312.5	NP_077288.2:p.(Val576Ile)	NC_000012.11:g.102158969C>T	(Likely) benign	1 lab	7aebafe0fd
5:171833277 SH3PXD2B C>T	5	171833277	171833277	C	T	SH3PXD2B	c.232+4G>A	NM_001017995.3	NP_001017995.1:p.?	NC_000005.9:g.171833277C>T	(Likely) benign	1 lab	7aec881c05
2:217347655 SMARCAL1 AT>A	2	217347655	217347658	AT	A	SMARCAL1	c.2823del	NM_014140.4	NP_054859.2:p.(Phe941LeufsTer31)	NC_000002.11:g.217347658del	VUS	1 lab	7aef3284e5
8:106813357 ZFPM2 C>A	8	106813357	106813357	C	A	ZFPM2	c.1047C>A	NM_012082.4	NP_036214.2:p.(Asn349Lys)	NC_000008.10:g.106813357C>A	VUS	1 lab	7aef3c2625
12:70928388 PTPRB T>A	12	70928388	70928388	T	A	PTPRB	c.6248A>T	NM_001109754.4	NP_001103224.1:p.(Tyr2083Phe)	NC_000012.11:g.70928388T>A	VUS	1 lab	7aefad7aa1
3:81810515 GBE1 T>G	3	81810515	81810515	T	G	GBE1	c.143+11A>C	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81810515T>G	(Likely) benign	1 lab	7aefd06bc7
17:1518291 SLC43A2 C>T	17	1518291	1518291	C	T	SLC43A2	c.406G>A	NM_152346.3	NP_689559.1:p.(Gly136Arg)	NC_000017.10:g.1518291C>T	VUS	1 lab	7af04a6e72
1:5935132 NPHP4 A>G	1	5935132	5935132	A	G	NPHP4	c.2846T>C	NM_015102.5	NP_055917.1:p.(Leu949Ser)	NC_000001.10:g.5935132A>G	VUS	1 lab	7af1b3de1e
3:57137154 IL17RD G>A	3	57137154	57137154	G	A	IL17RD	c.833C>T	NM_017563.5	NP_060033.3:p.(Thr278Ile)	NC_000003.11:g.57137154G>A	(Likely) benign	1 lab	7af1c1581a
16:84346610 WFDC1 C>T	16	84346610	84346610	C	T	WFDC1	c.188C>T	NM_021197.4	NP_067020.2:p.(Ala63Val)	NC_000016.9:g.84346610C>T	VUS	1 lab	7af27ed3e2
11:801461 PIDD1 C>T	11	801461	801461	C	T	PIDD1	c.1466G>A	NM_145886.4	NP_665893.2:p.(Arg489His)	NC_000011.9:g.801461C>T	(Likely) benign	1 lab	7af3a3361b
17:1628310 WDR81 G>A	17	1628310	1628310	G	A	WDR81	c.57G>A	NM_001163809.2	NP_001157281.1:p.(Trp19Ter)	NC_000017.10:g.1628310G>A	(Likely) pathogenic	1 lab	7af6192931
19:1468338 APC2 G>A	19	1468338	1468338	G	A	APC2	c.5038G>A	NM_005883.3	NP_005874.1:p.(Asp1680Asn)	NC_000019.9:g.1468338G>A	VUS	1 lab	7af7e36758
17:40654876 ATP6V0A1 C>T	17	40654876	40654876	C	T	ATP6V0A1	c.2004+1554C>T	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40654876C>T	(Likely) benign	1 lab	7af88b8e67
11:17429980 ABCC8 A>G	11	17429980	17429980	A	G	ABCC8	c.2779T>C	NM_000352.6	NP_000343.2:p.(Trp927Arg)	NC_000011.9:g.17429980A>G	VUS	1 lab	7af8e2f1e7
13:95246099 TGDS T>C	13	95246099	95246099	T	C	TGDS	c.149A>G	NM_014305.4	NP_055120.1:p.(Asp50Gly)	NC_000013.10:g.95246099T>C	VUS	1 lab	7afa4b5c13
6:157527558 ARID1B C>G	6	157527558	157527558	C	G	ARID1B	c.5652C>G	NM_001374828.1	NP_001361757.1:p.(Ser1884Arg)	NC_000006.11:g.157527558C>G	(Likely) benign	1 lab	7afa58dd9f
14:51225097 NIN T>C	14	51225097	51225097	T	C	NIN	c.2651A>G	NM_020921.4	NP_065972.4:p.(Lys884Arg)	NC_000014.8:g.51225097T>C	(Likely) benign	1 lab	7afa920691
X:106199735 MORC4 A>ATCT	X	106199735	106199747	A	ATCT	MORC4	c.1481_1483dup	NM_024657.5	NP_078933.3:p.(Lys494dup)	NC_000023.10:g.106199745_106199747dup	(Likely) benign	1 lab	7afd89da26
5:7862987 FASTKD3 C>T	5	7862987	7862987	C	T	FASTKD3	c.1648G>A	NM_024091.4	NP_076996.2:p.(Ala550Thr)	NC_000005.9:g.7862987C>T	(Likely) benign	1 lab	7aff30179b
11:126135927 SRPRA C>T	11	126135927	126135927	C	T	SRPRA	c.982G>A	NM_003139.4	NP_003130.2:p.(Val328Met)	NC_000011.9:g.126135927C>T	VUS	1 lab	7b00b76b98
7:100160275 AGFG2 G>A	7	100160275	100160275	G	A	AGFG2	c.1057G>A	NM_006076.5	NP_006067.3:p.(Gly353Ser)	NC_000007.13:g.100160275G>A	VUS	1 lab	7b01fd9b88
22:19754376 TBX1 T>A	22	19754376	19754376	T	A	TBX1	c.1501T>A	NM_001379200.1	NP_001366129.1:p.(Tyr501Asn)	NC_000022.10:g.19754376T>A	(Likely) benign	1 lab	7b028301eb
X:50659183 BMP15 G>T	X	50659183	50659183	G	T	BMP15	c.755G>T	NM_005448.2	NP_005439.2:p.(Gly252Val)	NC_000023.10:g.50659183G>T	(Likely) benign	1 lab	7b02e3a542
X:109352298 TMEM164 C>T	X	109352298	109352298	C	T	TMEM164	c.441-10C>T	NM_032227.4	NP_115603.2:p.?	NC_000023.10:g.109352298C>T	(Likely) benign	1 lab	7b03709513
2:42990225 OXER1 C>G	2	42990225	42990225	C	G	OXER1	c.978G>C	NM_148962.5	NP_683765.2:p.(Gln326His)	NC_000002.11:g.42990225C>G	(Likely) benign	1 lab	7b045b2ab9
X:132351861 TFDP3 C>T	X	132351861	132351861	C	T	TFDP3	c.427G>A	NM_016521.3	NP_057605.3:p.(Ala143Thr)	NC_000023.10:g.132351861C>T	(Likely) benign	1 lab	7b06c88e6e
X:50376444 SHROOM4 AG>A	X	50376444	50376445	AG	A	SHROOM4	c.2628del	NM_020717.5	NP_065768.2:p.(Cys877ValfsTer20)	NC_000023.10:g.50376445del	VUS	1 lab	7b070a3311
19:50143281 RRAS C>CG	19	50143281	50143287	C	CG	RRAS	c.74dup	NM_006270.5	NP_006261.1:p.(Pro26AlafsTer32)	NC_000019.9:g.50143287dup	VUS	1 lab	7b072ab2b4
6:10902947 SYCP2L A>G	6	10902947	10902947	A	G	SYCP2L	c.504A>G	NM_001040274.3	NP_001035364.2:p.(Leu168=)	NC_000006.11:g.10902947A>G	(Likely) benign	1 lab	7b0bc9e1cb
19:4217786 ANKRD24 G>A	19	4217786	4217786	G	A	ANKRD24	c.2629G>A	NM_001393985.1	NP_001380914.1:p.(Ala877Thr)	NC_000019.9:g.4217786G>A	VUS	1 lab	7b0c5a9d88
X:108718498 GUCY2F C>T	X	108718498	108718498	C	T	GUCY2F	c.668G>A	NM_001522.3	NP_001513.2:p.(Gly223Glu)	NC_000023.10:g.108718498C>T	(Likely) benign	1 lab	7b0d2d0c7d
17:65907142 BPTF A>G	17	65907142	65907142	A	G	BPTF	c.3142A>G	NM_182641.4	NP_872579.2:p.(Arg1048Gly)	NC_000017.10:g.65907142A>G	VUS	1 lab	7b0d6c46eb
8:41555473 ANK1 T>C	8	41555473	41555473	T	C	ANK1	c.2760+88A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41555473T>C	(Likely) benign	1 lab	250a1f1a3d
5:176637825 NSD1 G>A	5	176637825	176637825	G	A	NSD1	c.2425G>A	NM_022455.5	NP_071900.2:p.(Glu809Lys)	NC_000005.9:g.176637825G>A	(Likely) benign	1 lab	7b0e7c4e18
11:126145709 FOXRED1 C>T	11	126145709	126145709	C	T	FOXRED1	c.754C>T	NM_017547.4	NP_060017.1:p.(Arg252Cys)	NC_000011.9:g.126145709C>T	VUS	1 lab	7b10462e96
1:200587968 KIF14 T>A	1	200587968	200587968	T	A	KIF14	c.-115-2A>T	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200587968T>A	(Likely) benign	1 lab	7b10a27b3f
17:79095520 AATK G>A	17	79095520	79095520	G	A	AATK	c.2216C>T	NM_001080395.3	NP_001073864.2:p.(Pro739Leu)	NC_000017.10:g.79095520G>A	(Likely) benign	1 lab	7b11e28d64
16:30978877 SETD1A G>A	16	30978877	30978877	G	A	SETD1A	c.2738G>A	NM_014712.3	NP_055527.1:p.(Arg913His)	NC_000016.9:g.30978877G>A	VUS	1 lab	7b1434d2fb
17:42083582 NAGS G>C	17	42083582	42083582	G	C	NAGS	c.892G>C	NM_153006.3	NP_694551.1:p.(Gly298Arg)	NC_000017.10:g.42083582G>C	(Likely) pathogenic	1 lab	7b153dc074
1:1277483 DVL1 G>A	1	1277483	1277483	G	A	DVL1	c.416C>T	NM_001330311.2	NP_001317240.1:p.(Ser139Phe)	NC_000001.10:g.1277483G>A	VUS	1 lab	7b1697d04b
22:40054208 CACNA1I A>G	22	40054208	40054208	A	G	CACNA1I	c.2044A>G	NM_021096.4	NP_066919.2:p.(Met682Val)	NC_000022.10:g.40054208A>G	(Likely) benign	1 lab	7b17c46960
17:40371374 STAT5B C>T	17	40371374	40371374	C	T	STAT5B	c.789G>A	NM_012448.4	NP_036580.2:p.(Gly263=)	NC_000017.10:g.40371374C>T	(Likely) benign	1 lab	7b18758e10
X:38176636 RPGR C>A	X	38176636	38176636	C	A	RPGR	c.552G>T	NM_001034853.2	NP_001030025.1:p.(Gln184His)	NC_000023.10:g.38176636C>A	(Likely) benign	1 lab	7b191b5945
20:10620273 JAG1 G>A	20	10620273	10620273	G	A	JAG1	c.3530C>T	NM_000214.3	NP_000205.1:p.(Thr1177Met)	NC_000020.10:g.10620273G>A	(Likely) benign	1 lab	7b1abdb7c3
17:57287420 SMG8 G>C	17	57287420	57287420	G	C	SMG8	c.8G>C	NM_018149.7	NP_060619.4:p.(Gly3Ala)	NC_000017.10:g.57287420G>C	VUS	1 lab	7b1ac45fa2
5:74962813 ANKDD1B G>A	5	74962813	74962813	G	A	ANKDD1B	c.1388G>A	NM_001276713.2	NP_001263642.1:p.(Trp463Ter)	NC_000005.9:g.74962813G>A	VUS	1 lab	7b1b51fe43
6:51774105 PKHD1 G>C	6	51774105	51774105	G	C	PKHD1	c.6658C>G	NM_138694.4	NP_619639.3:p.(Leu2220Val)	NC_000006.11:g.51774105G>C	(Likely) benign	1 lab	7b1c16bcb0
1:10316381 KIF1B A>G	1	10316381	10316381	A	G	KIF1B	c.183A>G	NM_015074.3	NP_055889.2:p.(Ser61=)	NC_000001.10:g.10316381A>G	(Likely) benign	1 lab	239d2c0eb6
12:46320944 SCAF11 C>T	12	46320944	46320944	C	T	SCAF11	c.2540G>A	NM_004719.3	NP_004710.2:p.(Arg847His)	NC_000012.11:g.46320944C>T	(Likely) benign	1 lab	7b1de46c87
3:58109228 FLNB G>A	3	58109228	58109228	G	A	FLNB	c.3535G>A	NM_001457.4	NP_001448.2:p.(Glu1179Lys)	NC_000003.11:g.58109228G>A	(Likely) benign	1 lab	7b1f7fc505
6:35214051 SCUBE3 G>A	6	35214051	35214051	G	A	SCUBE3	c.2821G>A	NM_152753.4	NP_689966.2:p.(Glu941Lys)	NC_000006.11:g.35214051G>A	VUS	1 lab	7b1f81d215
17:42992461 GFAP C>T	17	42992461	42992461	C	T	GFAP	c.394G>A	NM_002055.5	NP_002046.1:p.(Ala132Thr)	NC_000017.10:g.42992461C>T	VUS	1 lab	7b1fbdc1c6
1:153662423 NPR1 G>A	1	153662423	153662423	G	A	NPR1	c.2899G>A	NM_000906.4	NP_000897.3:p.(Glu967Lys)	NC_000001.10:g.153662423G>A	(Likely) benign	1 lab	7b2053736e
2:170134318 LRP2 C>T	2	170134318	170134318	C	T	LRP2	c.1709G>A	NM_004525.3	NP_004516.2:p.(Arg570His)	NC_000002.11:g.170134318C>T	VUS	1 lab	7b20811cd9
20:62319047 RTEL1 C>T	20	62319047	62319047	C	T	RTEL1	c.1405C>T	NM_001283009.2	NP_001269938.1:p.(Arg469Cys)	NC_000020.10:g.62319047C>T	(Likely) benign	1 lab	7b20d83ee6
21:47531412 COL6A2 G>A	21	47531412	47531412	G	A	COL6A2	c.22G>A	NM_001849.4	NP_001840.3:p.(Val8Met)	NC_000021.8:g.47531412G>A	(Likely) benign	1 lab	7b22025efa
11:75439929 MOGAT2 C>T	11	75439929	75439929	C	T	MOGAT2	c.745C>T	NM_025098.4	NP_079374.2:p.(Arg249Trp)	NC_000011.9:g.75439929C>T	(Likely) benign	1 lab	7b22a60d3c
14:53529667 DDHD1 T>G	14	53529667	53529667	T	G	DDHD1	c.1760A>C	NM_001160148.2	NP_001153620.1:p.(Lys587Thr)	NC_000014.8:g.53529667T>G	(Likely) benign	1 lab	7b22c1246f
5:137216487 MYOT CTTTGT>C	5	137216487	137216495	CTTTGT	C	MYOT	c.634-14_634-10del	NM_006790.3	NP_006781.1:p.?	NC_000005.9:g.137216491_137216495del	VUS	1 lab	7b242672ac
16:2813572 SRRM2 C>T	16	2813572	2813572	C	T	SRRM2	c.3043C>T	NM_016333.4	NP_057417.3:p.(Pro1015Ser)	NC_000016.9:g.2813572C>T	VUS	1 lab	7b24818890
2:203420819 BMPR2 G>A	2	203420819	203420819	G	A	BMPR2	c.2431G>A	NM_001204.7	NP_001195.2:p.(Gly811Ser)	NC_000002.11:g.203420819G>A	VUS	1 lab	7b253747ec
5:56160660 MAP3K1 A>T	5	56160660	56160660	A	T	MAP3K1	c.934A>T	NM_005921.2	NP_005912.1:p.(Met312Leu)	NC_000005.9:g.56160660A>T	(Likely) benign	1 lab	7b2568117f
6:117237416 RFX6 C>T	6	117237416	117237416	C	T	RFX6	c.911C>T	NM_173560.4	NP_775831.2:p.(Pro304Leu)	NC_000006.11:g.117237416C>T	VUS	1 lab	7b2b1a7a3a
15:99472848 IGF1R G>C	15	99472848	99472848	G	C	IGF1R	c.2844G>C	NM_000875.5	NP_000866.1:p.(Val948=)	NC_000015.9:g.99472848G>C	(Likely) benign	1 lab	7b2b3a6eec
4:94145934 GRID2 C>G	4	94145934	94145934	C	G	GRID2	c.1125+8C>G	NM_001510.4	NP_001501.2:p.?	NC_000004.11:g.94145934C>G	(Likely) benign	1 lab	7b2c656069
20:33000346 ITCH C>T	20	33000346	33000346	C	T	ITCH	c.238C>T	NM_031483.7	NP_113671.3:p.(His80Tyr)	NC_000020.10:g.33000346C>T	VUS	1 lab	7b2c90a297
19:5693638 LONP1 G>A	19	5693638	5693638	G	A	LONP1	c.2463C>T	NM_004793.4	NP_004784.2:p.(Ala821=)	NC_000019.9:g.5693638G>A	(Likely) benign	1 lab	7b2c9576ad
X:153296253 MECP2 A>AGGG	X	153296253	153296256	A	AGGG	MECP2	c.1059_1061dup	NM_001110792.2	NP_001104262.1:p.(Pro354dup)	NC_000023.10:g.153296254_153296256dup	(Likely) pathogenic	1 lab	7b2d65a1bb
17:7106622 DLG4 C>G	17	7106622	7106622	C	G	DLG4	c.532G>C	NM_001321075.3	NP_001308004.1:p.(Val178Leu)	NC_000017.10:g.7106622C>G	(Likely) benign	1 lab	7b319c38e4
4:103189028 SLC39A8 C>A	4	103189028	103189028	C	A	SLC39A8	c.1048+1G>T	NM_001135146.2	NP_001128618.1:p.?	NC_000004.11:g.103189028C>A	VUS	1 lab	7b319fe6e0
19:7170618 INSR T>C	19	7170618	7170618	T	C	INSR	c.1413A>G	NM_000208.4	NP_000199.2:p.(Glu471=)	NC_000019.9:g.7170618T>C	(Likely) benign	1 lab	7b32223d74
X:70352989 MED12 G>A	X	70352989	70352989	G	A	MED12	c.4544G>A	NM_005120.3	NP_005111.2:p.(Arg1515Gln)	NC_000023.10:g.70352989G>A	(Likely) benign	1 lab	7b32a701ad
11:6651772 DCHS1 C>A	11	6651772	6651772	C	A	DCHS1	c.4253G>T	NM_003737.4	NP_003728.1:p.(Arg1418Leu)	NC_000011.9:g.6651772C>A	(Likely) benign	1 lab	7b33711165
10:131640541 EBF3 C>T	10	131640541	131640541	C	T	EBF3	c.1211G>A	NM_001375380.1	NP_001362309.1:p.(Arg404Gln)	NC_000010.10:g.131640541C>T	(Likely) benign	1 lab	7b33f4bdfd
11:5255582 HBD C>A	11	5255582	5255582	C	A	HBD	c.82G>T	NM_000519.4	NP_000510.1:p.(Ala28Ser)	NC_000011.9:g.5255582C>A	(Likely) pathogenic	1 lab	7b34c30837
13:77695500 MYCBP2 A>AGTCTTT	13	77695500	77695501	A	AGTCTTT	MYCBP2	c.8140+7_8140+8insAAAGAC	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77695500_77695501insGTCTTT	VUS	1 lab	7b3544ef80
15:90176960 KIF7 C>A	15	90176960	90176960	C	A	KIF7	c.2549G>T	NM_198525.3	NP_940927.2:p.(Arg850Leu)	NC_000015.9:g.90176960C>A	VUS	1 lab	7b385bfe2b
3:50357377 HYAL2 C>T	3	50357377	50357377	C	T	HYAL2	c.544G>A	NM_033158.5	NP_149348.2:p.(Ala182Thr)	NC_000003.11:g.50357377C>T	VUS	1 lab	23a05c4e80
9:133302750 HMCN2 G>A	9	133302750	133302750	G	A	HMCN2	c.13930G>A	NM_001291815.2	NP_001278744.1:p.(Ala4644Thr)	NC_000009.11:g.133302750G>A	(Likely) benign	1 lab	7b3b1d4fdf
16:2153795 PKD1 G>C	16	2153795	2153795	G	C	PKD1	c.8263C>G	NM_001009944.3	NP_001009944.3:p.(Leu2755Val)	NC_000016.9:g.2153795G>C	VUS	1 lab	7b3b4efdd5
21:47703734 MCM3AP G>A	21	47703734	47703734	G	A	MCM3AP	c.1238C>T	NM_003906.5	NP_003897.2:p.(Pro413Leu)	NC_000021.8:g.47703734G>A	(Likely) benign	1 lab	7b3b667315
9:131085185 COQ4 G>C	9	131085185	131085185	G	C	COQ4	c.48G>C	NM_016035.4	NP_057119.2:p.(Pro16=)	NC_000009.11:g.131085185G>C	(Likely) benign	1 lab	37684c6b58
6:32549909 HLA-DRB1 T>G	6	32549909	32549909	T	G	HLA-DRB1	c.371-294A>C	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32549909T>G	(Likely) benign	1 lab	7b3dddf3d9
3:52130582 POC1A T>C	3	52130582	52130582	T	C	POC1A	c.1125+3A>G	NM_015426.5	NP_056241.3:p.?	NC_000003.11:g.52130582T>C	VUS	1 lab	7b3f28d3fa
21:46012266 TSPEAR C>T	21	46012266	46012266	C	T	TSPEAR	c.83-24377G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46012266C>T	(Likely) benign	1 lab	7b402526c7
12:50479180 SMARCD1 G>C	12	50479180	50479180	G	C	SMARCD1	c.28G>C	NM_003076.5	NP_003067.3:p.(Val10Leu)	NC_000012.11:g.50479180G>C	(Likely) benign	1 lab	7b409bf77b
X:15841230 ZRSR2 C>CAGCCGGAGCCGG	X	15841230	15841259	C	CAGCCGGAGCCGG	ZRSR2	c.1332_1343dup	NM_005089.4	NP_005080.1:p.(Ser445_Arg448dup)	NC_000023.10:g.15841248_15841259dup	VUS	1 lab	7b4485a6bf
19:48183826 BICRA C>T	19	48183826	48183826	C	T	BICRA	c.1399C>T	NM_001394372.1	NP_001381301.1:p.(Pro467Ser)	NC_000019.9:g.48183826C>T	VUS	1 lab	7b4608860f
11:46920541 LRP4 T>G	11	46920541	46920541	T	G	LRP4	c.590A>C	NM_002334.4	NP_002325.2:p.(Gln197Pro)	NC_000011.9:g.46920541T>G	VUS	1 lab	7b477a2518
12:20522888 PDE3A G>C	12	20522888	20522888	G	C	PDE3A	c.670G>C	NM_000921.5	NP_000912.3:p.(Val224Leu)	NC_000012.11:g.20522888G>C	VUS	1 lab	7b49472296
2:40404966 SLC8A1 C>T	2	40404966	40404966	C	T	SLC8A1	c.1838G>A	NM_001112802.2	NP_001106273.1:p.(Arg613His)	NC_000002.11:g.40404966C>T	(Likely) benign	1 lab	332d0ade6b
17:70119713 SOX9 A>AC	17	70119713	70119715	A	AC	SOX9	c.717dup	NM_000346.4	NP_000337.1:p.(Thr240HisfsTer12)	NC_000017.10:g.70119715dup	(Likely) benign	1 lab	7b4968d4ed
2:33172411 LTBP1 G>T	2	33172411	33172411	G	T	LTBP1	c.20G>T	NM_206943.4	NP_996826.3:p.(Arg7Met)	NC_000002.11:g.33172411G>T	VUS	1 lab	7b4a39d935
1:225606998 LBR G>A	1	225606998	225606998	G	A	LBR	c.607C>T	NM_002296.4	NP_002287.2:p.(Arg203Trp)	NC_000001.10:g.225606998G>A	VUS	1 lab	7b4cee98f4
9:139726239 RABL6 A>G	9	139726239	139726239	A	G	RABL6	c.525A>G	NM_001173988.2	NP_001167459.1:p.(Gly175=)	NC_000009.11:g.139726239A>G	(Likely) benign	1 lab	23a077de99
6:168377155 MISSING G>A	6	168377155	168377155	G	A	MISSING				NC_000006.11:g.168377155G>A	VUS	1 lab	7b4e67a778
16:88789012 PIEZO1 T>C	16	88789012	88789012	T	C	PIEZO1	c.4754A>G	NM_001142864.4	NP_001136336.2:p.(Asn1585Ser)	NC_000016.9:g.88789012T>C	(Likely) benign	1 lab	7b4ef387c2
12:11546799 PRB2 G>A	12	11546799	11546799	G	A	PRB2	c.213C>T	NM_006248.4	NP_006239.3:p.(Pro71=)	NC_000012.11:g.11546799G>A	(Likely) benign	1 lab	7b4f22f7e9
1:173806048 DARS2 G>GTCTTCTC	1	173806048	173806058	G	GTCTTCTC	DARS2	c.664-26_664-20dup	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173806052_173806058dup	(Likely) benign	1 lab	7b5050d058
2:238249122 COL6A3 C>T	2	238249122	238249122	C	T	COL6A3	c.8437G>A	NM_004369.4	NP_004360.2:p.(Gly2813Arg)	NC_000002.11:g.238249122C>T	VUS	1 lab	7b506612f3
10:79741239 POLR3A T>C	10	79741239	79741239	T	C	POLR3A	c.3838A>G	NM_007055.4	NP_008986.2:p.(Met1280Val)	NC_000010.10:g.79741239T>C	VUS	1 lab	7b507bace0
X:77224487 ATP7A C>T	X	77224487	77224487	C	T	ATP7A	c.-21-2631C>T	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77224487C>T	(Likely) benign	1 lab	7b517c08e0
22:50315926 CRELD2 TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCG>T	22	50315926	50315962	TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCG	T	CRELD2	c.593-333_593-298del	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50315927_50315962del	(Likely) benign	1 lab	7b52ad33f3
11:43436301 TTC17 C>T	11	43436301	43436301	C	T	TTC17	c.2226C>T	NM_018259.6	NP_060729.2:p.(Tyr742=)	NC_000011.9:g.43436301C>T	(Likely) benign	1 lab	7b54d5c702
19:53117217 ZNF83 C>T	19	53117217	53117217	C	T	ZNF83	c.601G>A	NM_018300.4	NP_060770.3:p.(Gly201Arg)	NC_000019.9:g.53117217C>T	VUS	1 lab	7b563b366b
4:89708899 FAM13A C>T	4	89708899	89708899	C	T	FAM13A	c.1271+5G>A	NM_014883.4	NP_055698.2:p.?	NC_000004.11:g.89708899C>T	(Likely) benign	1 lab	7b570b7bb9
12:52139744 SCN8A G>C	12	52139744	52139744	G	C	SCN8A	c.2056G>C	NM_001330260.2	NP_001317189.1:p.(Asp686His)	NC_000012.11:g.52139744G>C	VUS	1 lab	7b57943860
8:144512273 MAFA CGGGGCCCCCGCTCGGCGGCCCG>C	8	144512273	144512300	CGGGGCCCCCGCTCGGCGGCCCG	C	MAFA	c.282_303del	NM_201589.4	NP_963883.2:p.(Gly95AlafsTer18)	NC_000008.10:g.144512279_144512300del	VUS	1 lab	23a34205d3
6:80982940 BCKDHB T>C	6	80982940	80982940	T	C	BCKDHB	c.1038+2T>C	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80982940T>C	(Likely) pathogenic	1 lab	7b5807e34f
9:97934319 FANCC A>AT	9	97934319	97934324	A	AT	FANCC	c.455dup	NM_000136.3	NP_000127.2:p.(Asn152LysfsTer9)	NC_000009.11:g.97934324dup	(Likely) pathogenic	1 lab	7b595a47d4
7:47409006 TNS3 T>C	7	47409006	47409006	T	C	TNS3	c.1237A>G	NM_022748.12	NP_073585.8:p.(Thr413Ala)	NC_000007.13:g.47409006T>C	(Likely) benign	1 lab	7b5964829d
12:14772204 GUCY2C C>T	12	14772204	14772204	C	T	GUCY2C	c.2816G>A	NM_004963.4	NP_004954.2:p.(Arg939His)	NC_000012.11:g.14772204C>T	VUS	1 lab	7b59c7abff
16:3778596 CREBBP C>A	16	3778596	3778596	C	A	CREBBP	c.6452G>T	NM_004380.3	NP_004371.2:p.(Arg2151Leu)	NC_000016.9:g.3778596C>A	VUS	1 lab	7b5a392bd4
3:129234352 IFT122 C>T	3	129234352	129234352	C	T	IFT122	c.3175C>T	NM_052989.3	NP_443715.1:p.(Arg1059Cys)	NC_000003.11:g.129234352C>T	VUS	1 lab	7b5d6d039a
11:57507697 TMX2 G>GA	11	57507697	57507701	G	GA	TMX2	c.875dup	NM_015959.4	NP_057043.1:p.(Asn292LysfsTer5)	NC_000011.9:g.57507701dup	VUS	1 lab	7b5d9e2b7b
3:71090618 FOXP1 T>G	3	71090618	71090618	T	G	FOXP1	c.730A>C	NM_001349338.3	NP_001336267.1:p.(Thr244Pro)	NC_000003.11:g.71090618T>G	(Likely) benign	1 lab	7b5e60d51e
13:38924062 UFM1 A>C	13	38924062	38924062	A	C	UFM1	c.2+4A>C	NM_016617.4	NP_057701.1:p.?	NC_000013.10:g.38924062A>C	(Likely) benign	1 lab	7b5f2e0056
1:2238097 SKI G>A	1	2238097	2238097	G	A	SKI	c.2080G>A	NM_003036.4	NP_003027.1:p.(Ala694Thr)	NC_000001.10:g.2238097G>A	(Likely) benign	1 lab	7b60c3077e
3:49690422 BSN C>G	3	49690422	49690422	C	G	BSN	c.3433C>G	NM_003458.4	NP_003449.2:p.(Arg1145Gly)	NC_000003.11:g.49690422C>G	(Likely) benign	1 lab	7b625b961f
1:27121397 PIGV A>G	1	27121397	27121397	A	G	PIGV	c.872A>G	NM_017837.4	NP_060307.2:p.(Asn291Ser)	NC_000001.10:g.27121397A>G	VUS	1 lab	7b641ebc67
13:20625679 ZMYM2 A>G	13	20625679	20625679	A	G	ZMYM2	c.2399A>G	NM_197968.4	NP_932072.1:p.(Tyr800Cys)	NC_000013.10:g.20625679A>G	VUS	1 lab	7b65f49251
13:110831677 COL4A1 A>T	13	110831677	110831677	A	T	COL4A1	c.2285T>A	NM_001845.6	NP_001836.3:p.(Val762Glu)	NC_000013.10:g.110831677A>T	VUS	1 lab	7b66f9e293
X:105178329 NRK A>G	X	105178329	105178329	A	G	NRK	c.3392A>G	NM_198465.4	NP_940867.2:p.(Asn1131Ser)	NC_000023.10:g.105178329A>G	(Likely) benign	1 lab	7b6885dadb
8:116632114 TRPS1 C>T	8	116632114	116632114	C	T	TRPS1	c.211G>A	NM_014112.5	NP_054831.2:p.(Glu71Lys)	NC_000008.10:g.116632114C>T	VUS	1 lab	7b6a128d0b
16:2814331 SRRM2 T>G	16	2814331	2814331	T	G	SRRM2	c.3802T>G	NM_016333.4	NP_057417.3:p.(Phe1268Val)	NC_000016.9:g.2814331T>G	(Likely) benign	1 lab	7b6a791972
1:225332176 DNAH14 A>G	1	225332176	225332176	A	G	DNAH14	c.4586A>G	NM_001367479.1	NP_001354408.1:p.(Tyr1529Cys)	NC_000001.10:g.225332176A>G	VUS	1 lab	7b6c95bcd1
14:21854310 CHD8 T>C	14	21854310	21854310	T	C	CHD8	c.7208A>G	NM_001170629.2	NP_001164100.1:p.(Asn2403Ser)	NC_000014.8:g.21854310T>C	(Likely) benign	1 lab	7b6ecd39a6
7:47897285 PKD1L1 G>A	7	47897285	47897285	G	A	PKD1L1	c.4508C>T	NM_138295.5	NP_612152.1:p.(Ala1503Val)	NC_000007.13:g.47897285G>A	VUS	1 lab	250b849382
17:42992635 GFAP T>C	17	42992635	42992635	T	C	GFAP	c.220A>G	NM_002055.5	NP_002046.1:p.(Met74Val)	NC_000017.10:g.42992635T>C	(Likely) benign	1 lab	7b6f42fa65
19:18980137 GDF1 C>T	19	18980137	18980137	C	T	GDF1	c.388G>A	NM_001492.6	NP_001483.3:p.(Val130Ile)	NC_000019.9:g.18980137C>T	(Likely) benign	1 lab	7b6f6074de
16:5127460 ALG1 T>G	16	5127460	5127460	T	G	ALG1	c.554T>G	NM_019109.4	NP_061982.3:p.(Phe185Cys)	NC_000016.9:g.5127460T>G	(Likely) benign	1 lab	250c7e7118
15:43661310 ZSCAN29 T>C	15	43661310	43661310	T	C	ZSCAN29	c.334A>G	NM_001372080.1	NP_001359009.1:p.(Lys112Glu)	NC_000015.9:g.43661310T>C	VUS	1 lab	7b710204c6
7:35288378 TBX20 G>C	7	35288378	35288378	G	C	TBX20	c.456C>G	NM_001077653.2	NP_001071121.1:p.(Ile152Met)	NC_000007.13:g.35288378G>C	(Likely) pathogenic	1 lab	23a7d4936d
12:49427368 KMT2D C>T	12	49427368	49427368	C	T	KMT2D	c.11120G>A	NM_003482.4	NP_003473.3:p.(Arg3707Gln)	NC_000012.11:g.49427368C>T	(Likely) benign	1 lab	7b72d25e79
5:149771206 TCOF1 C>T	5	149771206	149771206	C	T	TCOF1	c.3283C>T	NM_001371623.1	NP_001358552.1:p.(Gln1095Ter)	NC_000005.9:g.149771206C>T	VUS	1 lab	7b75147785
21:47552261 COL6A2 C>T	21	47552261	47552261	C	T	COL6A2	c.2855C>T	NM_001849.4	NP_001840.3:p.(Thr952Met)	NC_000021.8:g.47552261C>T	VUS	1 lab	7b752e169f
7:149981916 ACTR3C T>C	7	149981916	149981916	T	C	ACTR3C	c.490A>G	NM_001164458.2	NP_001157930.1:p.(Met164Val)	NC_000007.13:g.149981916T>C	(Likely) benign	1 lab	7b759a6ce8
X:41333342 NYX C>A	X	41333342	41333342	C	A	NYX	c.636C>A	NM_001378477.1	NP_001365406.1:p.(Ser212Arg)	NC_000023.10:g.41333342C>A	(Likely) benign	1 lab	7b791817df
X:30326808 NR0B1 C>T	X	30326808	30326808	C	T	NR0B1	c.673G>A	NM_000475.5	NP_000466.2:p.(Ala225Thr)	NC_000023.10:g.30326808C>T	VUS	1 lab	7bb60aab0b
5:141336747 PCDH12 T>TG	5	141336747	141336754	T	TG	PCDH12	c.669dup	NM_016580.4	NP_057664.1:p.(Lys224GlnfsTer16)	NC_000005.9:g.141336754dup	(Likely) pathogenic	1 lab	7b798b0242
11:118182885 CD3E C>T	11	118182885	118182885	C	T	CD3E	c.103C>T	NM_000733.3	NP_000724.1:p.(Pro35Ser)	NC_000011.9:g.118182885C>T	(Likely) benign	1 lab	250d5b3d70
9:69423520 MISSING A>G	9	69423520	69423520	A	G	MISSING				NC_000009.11:g.69423520A>G	(Likely) benign	1 lab	7b7b199e56
11:66458930 SPTBN2 A>C	11	66458930	66458930	A	C	SPTBN2	c.5390T>G	NM_006946.4	NP_008877.2:p.(Leu1797Arg)	NC_000011.9:g.66458930A>C	VUS	1 lab	7b7b927522
17:40359730 STAT5B C>G	17	40359730	40359730	C	G	STAT5B	c.1923G>C	NM_012448.4	NP_036580.2:p.(Trp641Cys)	NC_000017.10:g.40359730C>G	(Likely) pathogenic	1 lab	7b7bb08287
3:123427734 MYLK G>C	3	123427734	123427734	G	C	MYLK	c.1951C>G	NM_053025.4	NP_444253.3:p.(Pro651Ala)	NC_000003.11:g.123427734G>C	VUS	1 lab	23a9d57ed5
17:47696638 SPOP A>G	17	47696638	47696638	A	G	SPOP	c.310T>C	NM_001007226.1	NP_001007227.1:p.(Phe104Leu)	NC_000017.10:g.47696638A>G	VUS	1 lab	23ab919e61
20:947910 RSPO4 G>A	20	947910	947910	G	A	RSPO4	c.316C>T	NM_001029871.4	NP_001025042.2:p.(Arg106Trp)	NC_000020.10:g.947910G>A	VUS	1 lab	7b7d5513e7
17:1412566 INPP5K T>C	17	1412566	1412566	T	C	INPP5K	c.460A>G	NM_016532.4	NP_057616.2:p.(Ile154Val)	NC_000017.10:g.1412566T>C	(Likely) benign	1 lab	7b7e604855
12:102021559 MYBPC1 G>T	12	102021559	102021559	G	T	MYBPC1	c.155G>T	NM_002465.4	NP_002456.2:p.(Arg52Leu)	NC_000012.11:g.102021559G>T	VUS	1 lab	7b7e91952f
6:29911326 HLA-A A>G	6	29911326	29911326	A	G	HLA-A	c.619+6A>G	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29911326A>G	(Likely) benign	1 lab	7b7f163ca0
9:80144079 GNA14 G>A	9	80144079	80144079	G	A	GNA14	c.215C>T	NM_004297.4	NP_004288.1:p.(Thr72Met)	NC_000009.11:g.80144079G>A	(Likely) benign	1 lab	7b7f4be2da
5:112177278 APC A>T	5	112177278	112177278	A	T	APC	c.5987A>T	NM_000038.6	NP_000029.2:p.(Gln1996Leu)	NC_000005.9:g.112177278A>T	VUS	1 lab	7b801a1c14
5:126738278 MEGF10 G>C	5	126738278	126738278	G	C	MEGF10	c.821G>C	NM_001256545.2	NP_001243474.1:p.(Gly274Ala)	NC_000005.9:g.126738278G>C	VUS	1 lab	7b81ef1b2d
X:39923733 BCOR C>T	X	39923733	39923733	C	T	BCOR	c.3358G>A	NM_001123385.2	NP_001116857.1:p.(Val1120Met)	NC_000023.10:g.39923733C>T	VUS	1 lab	7b821b2a44
9:139412607 NOTCH1 C>T	9	139412607	139412607	C	T	NOTCH1	c.1237G>A	NM_017617.5	NP_060087.3:p.(Val413Met)	NC_000009.11:g.139412607C>T	VUS	1 lab	7b8263daf7
X:43626832 MAOB A>T	X	43626832	43626832	A	T	MAOB	c.1444T>A	NM_000898.5	NP_000889.3:p.(Leu482Met)	NC_000023.10:g.43626832A>T	(Likely) benign	1 lab	7b83513f4a
4:73156675 ADAMTS3 C>T	4	73156675	73156675	C	T	ADAMTS3	c.2828G>A	NM_014243.3	NP_055058.2:p.(Arg943His)	NC_000004.11:g.73156675C>T	VUS	1 lab	7b83bea4dc
19:49693488 TRPM4 G>A	19	49693488	49693488	G	A	TRPM4	c.2043G>A	NM_017636.4	NP_060106.2:p.(Trp681Ter)	NC_000019.9:g.49693488G>A	VUS	1 lab	7b843a5395
18:12367044 AFG3L2 T>C	18	12367044	12367044	T	C	AFG3L2	c.472A>G	NM_006796.3	NP_006787.2:p.(Met158Val)	NC_000018.9:g.12367044T>C	VUS	1 lab	7b84b84752
18:50731696 DCC A>G	18	50731696	50731696	A	G	DCC	c.1684A>G	NM_005215.4	NP_005206.2:p.(Arg562Gly)	NC_000018.9:g.50731696A>G	VUS	1 lab	7b8508f29c
15:89398388 ACAN G>A	15	89398388	89398388	G	A	ACAN	c.2572G>A	NM_001369268.1	NP_001356197.1:p.(Gly858Arg)	NC_000015.9:g.89398388G>A	VUS	1 lab	7b8553deb3
2:71191572 ATP6V1B1 AC>A	2	71191572	71191579	AC	A	ATP6V1B1	c.1155del	NM_001692.4	NP_001683.2:p.(Ile386SerfsTer10)	NC_000002.11:g.71191579del	(Likely) pathogenic	1 lab	7b8674244b
12:49580535 TUBA1A C>G	12	49580535	49580535	C	G	TUBA1A	c.85G>C	NM_006009.4	NP_006000.2:p.(Gly29Arg)	NC_000012.11:g.49580535C>G	(Likely) pathogenic	1 lab	7b8a461ece
15:89402250 ACAN C>T	15	89402250	89402250	C	T	ACAN	c.6434C>T	NM_001369268.1	NP_001356197.1:p.(Ser2145Phe)	NC_000015.9:g.89402250C>T	VUS	1 lab	7b8a687d7f
19:13318638 CACNA1A C>T	19	13318638	13318638	C	T	CACNA1A	c.7010G>A	NM_001127222.2	NP_001120694.1:p.(Gly2337Asp)	NC_000019.9:g.13318638C>T	(Likely) benign	1 lab	7b8b79406b
4:1803087 FGFR3 C>T	4	1803087	1803087	C	T	FGFR3	c.446-7C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803087C>T	(Likely) benign	1 lab	7b8de7c965
19:36341858 NPHS1 CTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCA>C	19	36341858	36341933	CTCACTCAGGAGAATGGTGATGTCAGGTGCTGGCTTCGCGTCCCCAGACACACAGTTGACCACGTACTCCTGCCCA	C	NPHS1	c.456_526+4del	NM_004646.4	NP_004637.1:p.?	NC_000019.9:g.36341859_36341933del	VUS	1 lab	7b91bdefe7
1:241667244 FH G>T	1	241667244	241667244	G	T	FH	c.1108+98C>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241667244G>T	(Likely) benign	1 lab	250de8612f
X:47003870 NDUFB11 A>C	X	47003870	47003870	A	C	NDUFB11	c.207+2T>G	NM_001135998.3	NP_001129470.1:p.?	NC_000023.10:g.47003870A>C	(Likely) benign	1 lab	7b92ae0023
15:43021521 CDAN1 C>G	15	43021521	43021521	C	G	CDAN1	c.2447G>C	NM_138477.4	NP_612486.2:p.(Ser816Thr)	NC_000015.9:g.43021521C>G	VUS	1 lab	7b93767dff
3:56716992 TASOR C>T	3	56716992	56716992	C	T	TASOR	c.43G>A	NM_001365635.2	NP_001352564.1:p.(Ala15Thr)	NC_000003.11:g.56716992C>T	VUS	1 lab	7b939ca036
12:48299826 VDR T>C	12	48299826	48299826	T	C	VDR				NC_000012.11:g.48299826T>C	(Likely) benign	1 lab	7b94036284
15:64686186 TRIP4 A>G	15	64686186	64686186	A	G	TRIP4	c.143A>G	NM_016213.5	NP_057297.2:p.(Tyr48Cys)	NC_000015.9:g.64686186A>G	VUS	1 lab	7b9404ffe2
15:76566772 ETFA G>A	15	76566772	76566772	G	A	ETFA	c.797C>T	NM_000126.4	NP_000117.1:p.(Thr266Met)	NC_000015.9:g.76566772G>A	(Likely) pathogenic	1 lab	7b94260990
10:12162780 DHTKD1 TTA>T	10	12162780	12162784	TTA	T	DHTKD1	c.2659-3_2659-2del	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12162783_12162784del	(Likely) benign	1 lab	7b94272067
X:34148883 FAM47A G>C	X	34148883	34148883	G	C	FAM47A	c.1513C>G	NM_203408.4	NP_981953.2:p.(Arg505Gly)	NC_000023.10:g.34148883G>C	VUS	1 lab	7b9502006f
13:37526676 ALG5 A>T	13	37526676	37526676	A	T	ALG5	c.834T>A	NM_013338.5	NP_037470.1:p.(Ile278=)	NC_000013.10:g.37526676A>T	(Likely) benign	1 lab	250f023736
X:148794895 MAGEA11 T>A	X	148794895	148794895	T	A	MAGEA11	c.76T>A	NM_005366.5	NP_005357.2:p.(Ser26Thr)	NC_000023.10:g.148794895T>A	(Likely) benign	1 lab	7b999a0b4c
22:21346564 LZTR1 A>C	22	21346564	21346564	A	C	LZTR1	c.1055A>C	NM_006767.4	NP_006758.2:p.(Tyr352Ser)	NC_000022.10:g.21346564A>C	(Likely) benign	1 lab	7b9ab75756
13:42877751 AKAP11 T>G	13	42877751	42877751	T	G	AKAP11	c.4869T>G	NM_016248.4	NP_057332.1:p.(Phe1623Leu)	NC_000013.10:g.42877751T>G	VUS	1 lab	7b9bc58bad
1:144874038 PDE4DIP T>C	1	144874038	144874038	T	C	PDE4DIP	c.5126-9A>G	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144874038T>C	VUS	1 lab	7b9be6163c
8:145010146 PLEC T>C	8	145010146	145010146	T	C	PLEC	c.472A>G	NM_201384.3	NP_958786.1:p.(Met158Val)	NC_000008.10:g.145010146T>C	VUS	1 lab	7b9eb4c782
11:118468463 ARCN1 A>T	11	118468463	118468463	A	T	ARCN1	c.1283A>T	NM_001655.5	NP_001646.2:p.(Glu428Val)	NC_000011.9:g.118468463A>T	(Likely) benign	1 lab	7b9ff17701
16:31129163 KAT8 C>G	16	31129163	31129163	C	G	KAT8	c.161C>G	NM_032188.3	NP_115564.2:p.(Thr54Arg)	NC_000016.9:g.31129163C>G	(Likely) benign	1 lab	7ba0004535
16:28489266 CLN3 C>T	16	28489266	28489266	C	T	CLN3	c.1057-68G>A	NM_001042432.1	NP_001035897.1:p.?	NC_000016.9:g.28489266C>T	(Likely) benign	1 lab	2519c2cfd1
2:183821299 NCKAP1 G>A	2	183821299	183821299	G	A	NCKAP1	c.2044C>T	NM_013436.5	NP_038464.1:p.(Leu682Phe)	NC_000002.11:g.183821299G>A	VUS	1 lab	7ba2013c25
X:102338204 NXF3 G>T	X	102338204	102338204	G	T	NXF3	c.541-3C>A	NM_022052.2	NP_071335.1:p.?	NC_000023.10:g.102338204G>T	(Likely) benign	1 lab	7ba2355889
1:2461162 HES5 T>G	1	2461162	2461162	T	G	HES5	c.247A>C	NM_001010926.4	NP_001010926.1:p.(Ser83Arg)	NC_000001.10:g.2461162T>G	(Likely) benign	1 lab	7ba354a4d1
14:91875067 CCDC88C T>C	14	91875067	91875067	T	C	CCDC88C	c.206A>G	NM_001080414.4	NP_001073883.2:p.(Asn69Ser)	NC_000014.8:g.91875067T>C	VUS	1 lab	7ba416cf5a
5:150723155 SLC36A2 C>A	5	150723155	150723155	C	A	SLC36A2	c.260G>T	NM_181776.3	NP_861441.2:p.(Gly87Val)	NC_000005.9:g.150723155C>A	(Likely) benign	1 lab	251b2d2a4f
3:20027216 PP2D1 A>C	3	20027216	20027216	A	C	PP2D1	c.1549T>G	NM_001252657.2	NP_001239586.1:p.(Tyr517Asp)	NC_000003.11:g.20027216A>C	VUS	1 lab	7ba7a8a8a5
X:10469556 MID1 T>C	X	10469556	10469556	T	C	MID1	c.757-5825A>G	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10469556T>C	VUS	1 lab	7ba7f2ee1e
21:45503111 TRAPPC10 G>T	21	45503111	45503111	G	T	TRAPPC10	c.2166G>T	NM_003274.5	NP_003265.3:p.(Glu722Asp)	NC_000021.8:g.45503111G>T	VUS	1 lab	7ba904a0d2
1:27106015 ARID1A C>T	1	27106015	27106015	C	T	ARID1A	c.5626C>T	NM_006015.6	NP_006006.3:p.(Pro1876Ser)	NC_000001.10:g.27106015C>T	VUS	1 lab	7baab0bcfa
1:153945210 CREB3L4 C>G	1	153945210	153945210	C	G	CREB3L4	c.544-10C>G	NM_001255978.2	NP_001242907.1:p.?	NC_000001.10:g.153945210C>G	(Likely) benign	1 lab	7baac1b9ea
4:3444846 HGFAC C>T	4	3444846	3444846	C	T	HGFAC	c.368C>T	NM_001528.4	NP_001519.1:p.(Thr123Ile)	NC_000004.11:g.3444846C>T	(Likely) benign	1 lab	7bab81e281
13:33635463 KL T>C	13	33635463	33635463	T	C	KL	c.2247T>C	NM_004795.4	NP_004786.2:p.(Ala749=)	NC_000013.10:g.33635463T>C	(Likely) benign	1 lab	23af3f761d
17:65338348 PSMD12 C>T	17	65338348	65338348	C	T	PSMD12	c.1115G>A	NM_002816.5	NP_002807.1:p.(Arg372Gln)	NC_000017.10:g.65338348C>T	VUS	1 lab	7badd75c85
10:50684359 ERCC6 A>G	10	50684359	50684359	A	G	ERCC6	c.2287-3T>C	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50684359A>G	VUS	1 lab	7badf862b6
22:37466665 TMPRSS6 C>T	22	37466665	37466665	C	T	TMPRSS6	c.1700G>A	NM_001374504.1	NP_001361433.1:p.(Arg567His)	NC_000022.10:g.37466665C>T	VUS	1 lab	7bb02373d4
4:6303274 WFS1 G>A	4	6303274	6303274	G	A	WFS1	c.1752G>A	NM_006005.3	NP_005996.2:p.(Gln584=)	NC_000004.11:g.6303274G>A	(Likely) benign	1 lab	7bb02f8534
4:151821266 LRBA G>A	4	151821266	151821266	G	A	LRBA	c.1859C>T	NM_001364905.1	NP_001351834.1:p.(Thr620Met)	NC_000004.11:g.151821266G>A	VUS	1 lab	7bb0c2e8c7
16:55527073 MMP2 C>T	16	55527073	55527073	C	T	MMP2	c.1340C>T	NM_004530.6	NP_004521.1:p.(Ala447Val)	NC_000016.9:g.55527073C>T	(Likely) benign	1 lab	7bb139c66d
8:11683554 FDFT1 C>A	8	11683554	11683554	C	A	FDFT1	c.532C>A	NM_004462.5	NP_004453.3:p.(Leu178Met)	NC_000008.10:g.11683554C>A	VUS	1 lab	7bb2bdce62
9:135946854 CEL GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC>G	9	135946854	135946914	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G	CEL	c.1993_2025del	NM_001807.6	NP_001798.3:p.(Ser665_Asp675del)	NC_000009.11:g.135946882_135946914del	(Likely) benign	1 lab	7bb2ffa93c
12:53072332 KRT1 C>T	12	53072332	53072332	C	T	KRT1	c.800G>A	NM_006121.4	NP_006112.3:p.(Arg267Gln)	NC_000012.11:g.53072332C>T	VUS	1 lab	7bb7e06d66
2:20203006 MATN3 C>T	2	20203006	20203006	C	T	MATN3	c.832G>A	NM_002381.5	NP_002372.1:p.(Val278Ile)	NC_000002.11:g.20203006C>T	VUS	1 lab	7bbac7e025
1:116943616 ATP1A1 C>T	1	116943616	116943616	C	T	ATP1A1	c.2706C>T	NM_001160233.1	NP_001153705.1:p.(Tyr902=)	NC_000001.10:g.116943616C>T	(Likely) benign	1 lab	251b6babff
16:3817738 CREBBP G>A	16	3817738	3817738	G	A	CREBBP	c.3233C>T	NM_004380.3	NP_004371.2:p.(Ser1078Leu)	NC_000016.9:g.3817738G>A	(Likely) benign	1 lab	7bbc243c19
19:49002462 LMTK3 C>T	19	49002462	49002462	C	T	LMTK3	c.1864G>A	NM_001388485.1	NP_001375414.1:p.(Ala622Thr)	NC_000019.9:g.49002462C>T	VUS	1 lab	7bc08443bb
3:186954178 MASP1 G>A	3	186954178	186954178	G	A	MASP1	c.1481C>T	NM_139125.4	NP_624302.1:p.(Thr494Ile)	NC_000003.11:g.186954178G>A	VUS	1 lab	7bc3a3964e
12:13716480 GRIN2B C>T	12	13716480	13716480	C	T	GRIN2B	c.3692G>A	NM_000834.5	NP_000825.2:p.(Gly1231Asp)	NC_000012.11:g.13716480C>T	VUS	1 lab	7bc3c0df14
3:172165994 GHSR G>A	3	172165994	172165994	G	A	GHSR	c.210C>T	NM_198407.2	NP_940799.1:p.(Arg70=)	NC_000003.11:g.172165994G>A	(Likely) benign	1 lab	7bc57f28cd
12:11905407 ETV6 T>C	12	11905407	11905407	T	C	ETV6	c.57T>C	NM_001987.4	NP_001978.1:p.(Pro19=)	NC_000012.11:g.11905407T>C	(Likely) benign	1 lab	251cb23ee7
15:49097843 CEP152 A>T	15	49097843	49097843	A	T	CEP152	c.4T>A	NM_001194998.2	NP_001181927.1:p.(Ser2Thr)	NC_000015.9:g.49097843A>T	VUS	1 lab	7bc6f4ecc7
1:1453123 ATAD3A C>T	1	1453123	1453123	C	T	ATAD3A	c.412C>T	NM_001170535.3	NP_001164006.1:p.(Arg138Trp)	NC_000001.10:g.1453123C>T	VUS	1 lab	7bc736c576
13:48830319 ITM2B G>A	13	48830319	48830319	G	A	ITM2B	c.253G>A	NM_021999.5	NP_068839.1:p.(Asp85Asn)	NC_000013.10:g.48830319G>A	(Likely) benign	1 lab	7bc85e85d7
1:163307850 NUF2 A>G	1	163307850	163307850	A	G	NUF2	c.476A>G	NM_145697.3	NP_663735.2:p.(His159Arg)	NC_000001.10:g.163307850A>G	VUS	1 lab	7bca1a05b1
X:106396456 NUP62CL C>T	X	106396456	106396456	C	T	NUP62CL	c.476G>A	NM_017681.3	NP_060151.2:p.(Arg159His)	NC_000023.10:g.106396456C>T	VUS	1 lab	7bcb0ad242
9:35794055 NPR2 C>G	9	35794055	35794055	C	G	NPR2	c.828C>G	NM_003995.4	NP_003986.2:p.(Asp276Glu)	NC_000009.11:g.35794055C>G	VUS	1 lab	7bcc47a4bf
7:5347831 TNRC18 T>A	7	5347831	5347831	T	A	TNRC18	c.8813A>T	NM_001080495.3	NP_001073964.2:p.(Tyr2938Phe)	NC_000007.13:g.5347831T>A	VUS	1 lab	7bcd8bde9b
19:1456368 APC2 C>G	19	1456368	1456368	C	G	APC2	c.781C>G	NM_005883.3	NP_005874.1:p.(Pro261Ala)	NC_000019.9:g.1456368C>G	(Likely) benign	1 lab	7bce32fa44
17:61995753 GH1 G>T	17	61995753	61995753	G	T	GH1	c.124C>A	NM_000515.5	NP_000506.2:p.(Arg42Ser)	NC_000017.10:g.61995753G>T	VUS	1 lab	7bcf6df38a
2:96555721 ANKRD36C G>A	2	96555721	96555721	G	A	ANKRD36C	c.3899C>T	NM_001393982.1	NP_001380911.1:p.(Ala1300Val)	NC_000002.11:g.96555721G>A	VUS	1 lab	7bd0aa1120
5:71495353 MAP1B T>G	5	71495353	71495353	T	G	MAP1B	c.6171T>G	NM_005909.5	NP_005900.2:p.(Tyr2057Ter)	NC_000005.9:g.71495353T>G	VUS	1 lab	7bd0aa6d49
21:46924425 COL18A1 CGGCCCCCCAGGCCCCCCA>C	21	46924425	46924448	CGGCCCCCCAGGCCCCCCA	C	COL18A1	c.2829_2846del	NM_001379500.1	NP_001366429.1:p.(Pro944_Pro949del)	NC_000021.8:g.46924431_46924448del	(Likely) benign	1 lab	7bd115bd48
17:59469448 BCAS3 AGCCAGCCCCTCAGCCTCTTCCCGACTGGCTTCCCGTAGGTACCAGCAACCTGCTTCTGACTG>A	17	59469448	59469519	AGCCAGCCCCTCAGCCTCTTCCCGACTGGCTTCCCGTAGGTACCAGCAACCTGCTTCTGACTG	A	BCAS3	c.2714_*33del	NM_017679.5	NP_060149.3:p.(Leu905ProfsTer30)	NC_000017.10:g.59469458_59469519del	VUS	1 lab	7bd245080f
15:89416199 ACAN G>A	15	89416199	89416199	G	A	ACAN	c.7390G>A	NM_001369268.1	NP_001356197.1:p.(Glu2464Lys)	NC_000015.9:g.89416199G>A	(Likely) benign	1 lab	7bd2b62a1f
15:89417665 ACAN C>T	15	89417665	89417665	C	T	ACAN	c.7660C>T	NM_001369268.1	NP_001356197.1:p.(Arg2554Trp)	NC_000015.9:g.89417665C>T	VUS	1 lab	7bd3ea9d98
8:100654727 VPS13B G>GT	8	100654727	100654728	G	GT	VPS13B	c.5908+2dup	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100654728dup	VUS	1 lab	7bd42ed5e7
2:225342960 CUL3 A>T	2	225342960	225342960	A	T	CUL3	c.2132T>A	NM_003590.5	NP_003581.1:p.(Met711Lys)	NC_000002.11:g.225342960A>T	VUS	1 lab	7bd4bde104
13:111114695 COL4A2 T>A	13	111114695	111114695	T	A	COL4A2	c.1740T>A	NM_001846.4	NP_001837.2:p.(Asp580Glu)	NC_000013.10:g.111114695T>A	(Likely) benign	1 lab	7bd8838b09
14:103412811 CDC42BPB T>C	14	103412811	103412811	T	C	CDC42BPB	c.3742A>G	NM_006035.4	NP_006026.3:p.(Ile1248Val)	NC_000014.8:g.103412811T>C	VUS	1 lab	7bd9d0ec00
2:180843027 CWC22 C>T	2	180843027	180843027	C	T	CWC22	c.471G>A	NM_020943.3	NP_065994.1:p.(Met157Ile)	NC_000002.11:g.180843027C>T	VUS	1 lab	7bda7d8c7b
2:179631319 TTN A>AGCAC	2	179631319	179631325	A	AGCAC	TTN	c.9488_9491dup	NM_001267550.2	NP_001254479.2:p.(Val3165CysfsTer4)	NC_000002.11:g.179631322_179631325dup	(Likely) pathogenic	1 lab	7bdadfc317
17:40125589 CNP C>G	17	40125589	40125589	C	G	CNP	c.913C>G	NM_033133.5	NP_149124.3:p.(Gln305Glu)	NC_000017.10:g.40125589C>G	(Likely) benign	1 lab	7bdb23686e
3:53126560 RFT1 C>T	3	53126560	53126560	C	T	RFT1	c.1283G>A	NM_052859.4	NP_443091.1:p.(Ser428Asn)	NC_000003.11:g.53126560C>T	VUS	1 lab	7bdb491a26
2:210685339 UNC80 A>T	2	210685339	210685339	A	T	UNC80	c.2267A>T	NM_001371986.1	NP_001358915.1:p.(Asp756Val)	NC_000002.11:g.210685339A>T	(Likely) benign	1 lab	7bdb61a4ad
10:96084180 PLCE1 G>C	10	96084180	96084180	G	C	PLCE1	c.6576G>C	NM_016341.4	NP_057425.3:p.(Glu2192Asp)	NC_000010.10:g.96084180G>C	VUS	1 lab	7bdb630e85
1:153603057 S100A1 G>A	1	153603057	153603057	G	A	S100A1	c.60G>A	NM_006271.2	NP_006262.1:p.(Ser20=)	NC_000001.10:g.153603057G>A	VUS	1 lab	7bdd0bcd65
X:122387298 GRIA3 T>C	X	122387298	122387298	T	C	GRIA3	c.413T>C	NM_007325.5	NP_015564.5:p.(Val138Ala)	NC_000023.10:g.122387298T>C	VUS	1 lab	7bdd6b88c0
7:151932897 KMT2C C>A	7	151932897	151932897	C	A	KMT2C	c.2769+5G>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151932897C>A	(Likely) benign	1 lab	7bdd93e7c7
2:48023107 MSH6 C>A	2	48023107	48023107	C	A	MSH6	c.532C>A	NM_000179.3	NP_000170.1:p.(Arg178Ser)	NC_000002.11:g.48023107C>A	VUS	1 lab	7be16cd7c7
X:106184780 MORC4 T>C	X	106184780	106184780	T	C	MORC4	c.2743A>G	NM_024657.5	NP_078933.3:p.(Ile915Val)	NC_000023.10:g.106184780T>C	(Likely) benign	1 lab	7be1bbc457
17:57058177 PPM1E C>T	17	57058177	57058177	C	T	PPM1E	c.2053C>T	NM_014906.5	NP_055721.3:p.(Pro685Ser)	NC_000017.10:g.57058177C>T	(Likely) benign	1 lab	7be23157a1
4:126371438 FAT4 C>A	4	126371438	126371438	C	A	FAT4	c.9273C>A	NM_001291303.3	NP_001278232.1:p.(Phe3091Leu)	NC_000004.11:g.126371438C>A	VUS	1 lab	7be5403198
22:43045295 CYB5R3 G>A	22	43045295	43045295	G	A	CYB5R3	c.21+6C>T	NM_000398.7	NP_000389.1:p.?	NC_000022.10:g.43045295G>A	(Likely) benign	1 lab	7be5a073c4
1:23762465 ASAP3 C>T	1	23762465	23762465	C	T	ASAP3	c.1628G>A	NM_017707.4	NP_060177.2:p.(Arg543Gln)	NC_000001.10:g.23762465C>T	VUS	1 lab	7be61c4fe5
6:152651791 SYNE1 C>T	6	152651791	152651791	C	T	SYNE1	c.14029G>A	NM_182961.4	NP_892006.3:p.(Ala4677Thr)	NC_000006.11:g.152651791C>T	VUS	1 lab	7be6d884a3
6:32942386 BRD2 C>A	6	32942386	32942386	C	A	BRD2	c.177C>A	NM_001199455.1	NP_001186384.1:p.(Ala59=)	NC_000006.11:g.32942386C>A	(Likely) benign	1 lab	251f6093bd
17:10426690 MYH2 G>A	17	10426690	10426690	G	A	MYH2	c.5512C>T	NM_017534.6	NP_060004.3:p.(Arg1838Cys)	NC_000017.10:g.10426690G>A	VUS	1 lab	7be7425268
16:1614081 IFT140 C>T	16	1614081	1614081	C	T	IFT140	c.1984G>A	NM_014714.4	NP_055529.2:p.(Val662Ile)	NC_000016.9:g.1614081C>T	VUS	1 lab	7be7cadd15
1:16349206 CLCNKA C>T	1	16349206	16349206	C	T	CLCNKA	c.92C>T	NM_004070.4	NP_004061.3:p.(Ala31Val)	NC_000001.10:g.16349206C>T	VUS	1 lab	7be7de8a46
15:51828480 DMXL2 T>C	15	51828480	51828480	T	C	DMXL2	c.2197A>G	NM_001378457.1	NP_001365386.1:p.(Ile733Val)	NC_000015.9:g.51828480T>C	(Likely) benign	1 lab	7be82af2e1
1:39549917 MACF1 CAGTGAGCGGTCATGTCGG>C	1	39549917	39549946	CAGTGAGCGGTCATGTCGG	C	MACF1	c.39_56del	NM_012090.5	NP_036222.3:p.(Cys20_Ser25del)	NC_000001.10:g.39549929_39549946del	(Likely) benign	1 lab	23b34fe156
9:12702357 TYRP1 G>A	9	12702357	12702357	G	A	TYRP1	c.1000G>A	NM_000550.3	NP_000541.1:p.(Ala334Thr)	NC_000009.11:g.12702357G>A	VUS	1 lab	7be90f6628
12:5020921 KCNA1 C>T	12	5020921	5020921	C	T	KCNA1	c.377C>T	NM_000217.3	NP_000208.2:p.(Ala126Val)	NC_000012.11:g.5020921C>T	VUS	1 lab	7be97cc3a2
1:22417932 CDC42 G>T	1	22417932	22417932	G	T	CDC42	c.498G>T	NM_001791.4	NP_001782.1:p.(Lys166Asn)	NC_000001.10:g.22417932G>T	VUS	1 lab	7bea6141a5
17:19282394 MAPK7 A>C	17	19282394	19282394	A	C	MAPK7	c.181A>C	NM_002749.4	NP_002740.2:p.(Ile61Leu)	NC_000017.10:g.19282394A>C	VUS	1 lab	7beb0de544
13:25480750 CPAP G>A	13	25480750	25480750	G	A	CPAP	c.1426C>T	NM_018451.5	NP_060921.3:p.(Gln476Ter)	NC_000013.10:g.25480750G>A	(Likely) pathogenic	1 lab	7bef1095a9
19:51171610 SHANK1 C>T	19	51171610	51171610	C	T	SHANK1	c.3607G>A	NM_016148.5	NP_057232.2:p.(Ala1203Thr)	NC_000019.9:g.51171610C>T	(Likely) benign	1 lab	7bef47b3b8
16:89350128 ANKRD11 C>T	16	89350128	89350128	C	T	ANKRD11	c.2822G>A	NM_013275.6	NP_037407.4:p.(Arg941Lys)	NC_000016.9:g.89350128C>T	VUS	1 lab	7bf0b592f8
1:22176915 HSPG2 C>T	1	22176915	22176915	C	T	HSPG2	c.7235G>A	NM_005529.7	NP_005520.4:p.(Ser2412Asn)	NC_000001.10:g.22176915C>T	(Likely) benign	1 lab	7bf16ef843
1:151428470 POGZ T>C	1	151428470	151428470	T	C	POGZ	c.-2+3158A>G	NM_015100.4	NP_055915.2:p.?	NC_000001.10:g.151428470T>C	(Likely) benign	1 lab	7bf20ee998
12:57968584 KIF5A T>C	12	57968584	57968584	T	C	KIF5A	c.1717-283T>C	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57968584T>C	(Likely) benign	1 lab	7bf2472db0
3:49568328 DAG1 G>T	3	49568328	49568328	G	T	DAG1	c.384G>T	NM_004393.6	NP_004384.5:p.(Val128=)	NC_000003.11:g.49568328G>T	(Likely) benign	1 lab	7bf29fe7ea
16:30735685 SRCAP C>T	16	30735685	30735685	C	T	SRCAP	c.4940C>T	NM_006662.3	NP_006653.2:p.(Pro1647Leu)	NC_000016.9:g.30735685C>T	(Likely) benign	1 lab	7bf34cee15
X:70320702 FOXO4 C>T	X	70320702	70320702	C	T	FOXO4	c.622C>T	NM_005938.4	NP_005929.2:p.(Arg208Cys)	NC_000023.10:g.70320702C>T	VUS	1 lab	7bf4137a75
8:16859359 FGF20 G>C	8	16859359	16859359	G	C	FGF20	c.183C>G	NM_019851.3	NP_062825.1:p.(His61Gln)	NC_000008.10:g.16859359G>C	VUS	1 lab	7bf4db8f27
16:30079979 ALDOA G>C	16	30079979	30079979	G	C	ALDOA	c.499G>C	NM_001243177.4	NP_001230106.1:p.(Val167Leu)	NC_000016.9:g.30079979G>C	VUS	1 lab	7bf6e27638
9:286594 DOCK8 C>T	9	286594	286594	C	T	DOCK8	c.290C>T	NM_203447.4	NP_982272.2:p.(Pro97Leu)	NC_000009.11:g.286594C>T	(Likely) benign	1 lab	7bf704257f
20:62839434 MYT1 GGAGGAA>G	20	62839434	62839457	GGAGGAA	G	MYT1	c.903_908del	NM_004535.3	NP_004526.1:p.(Glu305_Glu306del)	NC_000020.10:g.62839452_62839457del	(Likely) benign	1 lab	7bf8ab45dc
17:11757440 DNAH9 G>T	17	11757440	11757440	G	T	DNAH9	c.9628G>T	NM_001372.4	NP_001363.2:p.(Ala3210Ser)	NC_000017.10:g.11757440G>T	(Likely) benign	1 lab	7bfa05b37c
5:42718154 GHR G>T	5	42718154	42718154	G	T	GHR	c.876G>T	NM_000163.5	NP_000154.1:p.(Arg292Ser)	NC_000005.9:g.42718154G>T	VUS	1 lab	7bfb81166d
11:118375425 KMT2A C>T	11	118375425	118375425	C	T	KMT2A	c.8818C>T	NM_001197104.2	NP_001184033.1:p.(Arg2940Trp)	NC_000011.9:g.118375425C>T	VUS	1 lab	7bfbfc753c
3:113373864 USF3 G>C	3	113373864	113373864	G	C	USF3	c.6665C>G	NM_001009899.4	NP_001009899.3:p.(Ser2222Cys)	NC_000003.11:g.113373864G>C	VUS	1 lab	7bfc0cba13
7:107002836 COG5 G>A	7	107002836	107002836	G	A	COG5	c.865C>T	NM_006348.5	NP_006339.4:p.(Pro289Ser)	NC_000007.13:g.107002836G>A	VUS	1 lab	7bfc1040d5
11:119146750 CBL A>G	11	119146750	119146750	A	G	CBL	c.913A>G	NM_005188.4	NP_005179.2:p.(Ile305Val)	NC_000011.9:g.119146750A>G	VUS	1 lab	7bfc9cc62c
11:67379459 NDUFV1 G>A	11	67379459	67379459	G	A	NDUFV1	c.1162+10G>A	NM_007103.4	NP_009034.2:p.?	NC_000011.9:g.67379459G>A	(Likely) benign	1 lab	7bfcb9cdca
22:39421637 APOBEC3D A>G	22	39421637	39421637	A	G	APOBEC3D	c.566A>G	NM_152426.4	NP_689639.2:p.(Asn189Ser)	NC_000022.10:g.39421637A>G	(Likely) benign	1 lab	7bfd13d99b
3:124732213 HEG1 G>T	3	124732213	124732213	G	T	HEG1	c.2210C>A	NM_020733.2	NP_065784.1:p.(Thr737Asn)	NC_000003.11:g.124732213G>T	VUS	1 lab	7bfe9078f7
2:209188948 PIKFYVE G>A	2	209188948	209188948	G	A	PIKFYVE	c.2273G>A	NM_015040.4	NP_055855.2:p.(Arg758Gln)	NC_000002.11:g.209188948G>A	VUS	1 lab	7bff4e7a90
7:21603969 DNAH11 G>A	7	21603969	21603969	G	A	DNAH11	c.1148G>A	NM_001277115.2	NP_001264044.1:p.(Arg383Gln)	NC_000007.13:g.21603969G>A	VUS	1 lab	7c0062bb64
12:121666879 P2RX4 C>T	12	121666879	121666879	C	T	P2RX4	c.861C>T	NM_002560.3	NP_002551.2:p.(Asn287=)	NC_000012.11:g.121666879C>T	VUS	1 lab	7c012ad25a
14:36039859 RALGAPA1 C>T	14	36039859	36039859	C	T	RALGAPA1	c.7460G>A	NM_001346249.2	NP_001333178.1:p.(Arg2487His)	NC_000014.8:g.36039859C>T	VUS	1 lab	7c01bf3aca
6:118880118 CEP85L A>G	6	118880118	118880118	A	G	CEP85L	c.1020+6574T>C	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118880118A>G	VUS	1 lab	7c01d2691e
18:19751845 GATA6 C>T	18	19751845	19751845	C	T	GATA6	c.740C>T	NM_005257.6	NP_005248.2:p.(Ala247Val)	NC_000018.9:g.19751845C>T	VUS	1 lab	7c03719d88
4:164394616 TKTL2 C>G	4	164394616	164394616	C	G	TKTL2	c.271G>C	NM_032136.5	NP_115512.3:p.(Gly91Arg)	NC_000004.11:g.164394616C>G	VUS	1 lab	7c037fa813
1:240371502 FMN2 C>T	1	240371502	240371502	C	T	FMN2	c.3390C>T	NM_020066.5	NP_064450.3:p.(Pro1130=)	NC_000001.10:g.240371502C>T	(Likely) benign	1 lab	7c03e6f47a
2:152512793 NEB C>T	2	152512793	152512793	C	T	NEB	c.6369G>A	NM_001164508.2	NP_001157980.2:p.(Thr2123=)	NC_000002.11:g.152512793C>T	(Likely) benign	1 lab	7c05f7bd27
12:64202648 RXYLT1 G>A	12	64202648	64202648	G	A	RXYLT1	c.1108G>A	NM_014254.3	NP_055069.1:p.(Gly370Ser)	NC_000012.11:g.64202648G>A	(Likely) benign	1 lab	7c06db28a9
16:89757021 CDK10 A>G	16	89757021	89757021	A	G	CDK10	c.221A>G	NM_052988.5	NP_443714.3:p.(Lys74Arg)	NC_000016.9:g.89757021A>G	(Likely) benign	1 lab	7c071bf44b
7:129933039 CPA4 A>G	7	129933039	129933039	A	G	CPA4	c.19A>G	NM_016352.4	NP_057436.2:p.(Ile7Val)	NC_000007.13:g.129933039A>G	(Likely) benign	1 lab	7c07500297
4:265195 ZNF732 A>C	4	265195	265195	A	C	ZNF732	c.1451T>G	NM_001137608.3	NP_001131080.1:p.(Leu484Ter)	NC_000004.11:g.265195A>C	(Likely) benign	1 lab	7c083d4ec4
3:142232345 ATR C>T	3	142232345	142232345	C	T	ATR	c.4639G>A	NM_001184.4	NP_001175.2:p.(Glu1547Lys)	NC_000003.11:g.142232345C>T	VUS	1 lab	23b9c7b246
9:98211512 PTCH1 G>A	9	98211512	98211512	G	A	PTCH1	c.3643C>T	NM_000264.5	NP_000255.2:p.(His1215Tyr)	NC_000009.11:g.98211512G>A	(Likely) benign	1 lab	7c09323ab7
10:71690259 COL13A1 G>T	10	71690259	71690259	G	T	COL13A1	c.1634G>T	NM_001368882.1	NP_001355811.1:p.(Ser545Ile)	NC_000010.10:g.71690259G>T	VUS	1 lab	7c09f7c658
17:41234560 BRCA1 C>T	17	41234560	41234560	C	T	BRCA1	c.4218G>A	NM_007294.3	NP_009225.1:p.(Lys1406=)	NC_000017.10:g.41234560C>T	(Likely) benign	1 lab	25262f105b
6:31964621 C4B_2 G>GCT	6	31964621	31964624	G	GCT	C4B_2	c.3694_3695dup	NM_001242823.2	NP_001229752.1:p.(Val1233GlnfsTer75)	NC_000006.11:g.31964623_31964624dup	VUS	1 lab	7c0a86907b
15:99380218 IGF1R C>T	15	99380218	99380218	C	T	IGF1R	c.641-54336C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99380218C>T	(Likely) benign	1 lab	7c0b70257a
7:128492991 FLNC C>T	7	128492991	128492991	C	T	FLNC	c.6114C>T	NM_001458.4	NP_001449.3:p.(Ile2038=)	NC_000007.13:g.128492991C>T	(Likely) benign	1 lab	25272e24ab
12:25368466 KRAS A>G	12	25368466	25368466	A	G	KRAS	c.451-5621T>C	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25368466A>G	VUS	1 lab	7c0cb21e68
8:1496924 DLGAP2 C>T	8	1496924	1496924	C	T	DLGAP2	c.305C>T	NM_001346810.2	NP_001333739.1:p.(Ala102Val)	NC_000008.10:g.1496924C>T	(Likely) benign	1 lab	7c0e352f6a
19:18979696 GDF1 G>A	19	18979696	18979696	G	A	GDF1	c.829C>T	NM_001492.6	NP_001483.3:p.(Arg277Cys)	NC_000019.9:g.18979696G>A	VUS	1 lab	7c0e772252
8:145009401 PLEC C>T	8	145009401	145009401	C	T	PLEC	c.683G>A	NM_201384.3	NP_958786.1:p.(Arg228Gln)	NC_000008.10:g.145009401C>T	VUS	1 lab	7c0f2709c2
6:43014142 CUL7 G>A	6	43014142	43014142	G	A	CUL7	c.2492C>T	NM_014780.5	NP_055595.2:p.(Ser831Phe)	NC_000006.11:g.43014142G>A	VUS	1 lab	7c0f33f6f1
11:6652626 DCHS1 C>T	11	6652626	6652626	C	T	DCHS1	c.3688G>A	NM_003737.4	NP_003728.1:p.(Val1230Met)	NC_000011.9:g.6652626C>T	VUS	1 lab	7c0f4f36c7
20:44575021 PCIF1 C>T	20	44575021	44575021	C	T	PCIF1	c.1611C>T	NM_022104.4	NP_071387.1:p.(Arg537=)	NC_000020.10:g.44575021C>T	VUS	1 lab	7c0fe3d450
14:24619512 RNF31 G>A	14	24619512	24619512	G	A	RNF31	c.1052G>A	NM_017999.5	NP_060469.4:p.(Arg351Gln)	NC_000014.8:g.24619512G>A	(Likely) benign	1 lab	7c106e6d8d
1:225605682 LBR G>A	1	225605682	225605682	G	A	LBR	c.837+4C>T	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225605682G>A	(Likely) benign	1 lab	7c121c444a
21:45750578 CFAP410 A>AGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG	21	45750578	45750644	A	AGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGGGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG	CFAP410	c.642+62_642+127dup	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45750579_45750644dup	(Likely) benign	1 lab	7c13764956
11:70319180 SHANK2 G>A	11	70319180	70319180	G	A	SHANK2	c.5344C>T	NM_012309.5	NP_036441.2:p.(Pro1782Ser)	NC_000011.9:g.70319180G>A	VUS	1 lab	7c15713608
2:141298635 LRP1B C>T	2	141298635	141298635	C	T	LRP1B	c.7420G>A	NM_018557.3	NP_061027.2:p.(Gly2474Ser)	NC_000002.11:g.141298635C>T	(Likely) benign	1 lab	7c163eac1f
4:71275469 OPRPN C>A	4	71275469	71275469	C	A	OPRPN	c.424C>A	NM_021225.5	NP_067048.4:p.(Pro142Thr)	NC_000004.11:g.71275469C>A	(Likely) benign	1 lab	7c16555b85
12:116421018 MED13L C>T	12	116421018	116421018	C	T	MED13L	c.4859G>A	NM_015335.5	NP_056150.1:p.(Gly1620Asp)	NC_000012.11:g.116421018C>T	(Likely) benign	1 lab	7c1745f5ae
19:7293864 INSR C>CGCGGCCACCGCCACCAGCAGG	19	7293864	7293866	C	CGCGGCCACCGCCACCAGCAGG	INSR	c.38_39insCCTGCTGGTGGCGGTGGCCGC	NM_000208.4	NP_000199.2:p.(Val16_Leu22dup)	NC_000019.9:g.7293865_7293866insCGGCCACCGCCACCAGCAGGG	(Likely) benign	1 lab	7c17a00fa5
X:139038881 CXorf66 A>T	X	139038881	139038881	A	T	CXorf66	c.260T>A	NM_001013403.3	NP_001013421.1:p.(Ile87Lys)	NC_000023.10:g.139038881A>T	VUS	1 lab	7c182c5cc7
17:7751581 KDM6B G>A	17	7751581	7751581	G	A	KDM6B	c.1975G>A	NM_001348716.2	NP_001335645.1:p.(Gly659Arg)	NC_000017.10:g.7751581G>A	(Likely) benign	1 lab	7c24ffa94c
2:169103871 STK39 CGCCGCCGCCGCTGTCACCGGG>C	2	169103871	169103898	CGCCGCCGCCGCTGTCACCGGG	C	STK39	c.54_74del	NM_013233.3	NP_037365.2:p.(Pro19_Ala25del)	NC_000002.11:g.169103878_169103898del	VUS	1 lab	7c1942fc6a
18:21131617 NPC1 G>A	18	21131617	21131617	G	A	NPC1	c.1628C>T	NM_000271.5	NP_000262.2:p.(Pro543Leu)	NC_000018.9:g.21131617G>A	(Likely) pathogenic	1 lab	23baf1b0ca
19:5144143 KDM4B C>T	19	5144143	5144143	C	T	KDM4B	c.2716C>T	NM_015015.3	NP_055830.1:p.(His906Tyr)	NC_000019.9:g.5144143C>T	VUS	1 lab	7c19ee1164
11:118374647 KMT2A C>T	11	118374647	118374647	C	T	KMT2A	c.8040C>T	NM_001197104.2	NP_001184033.1:p.(Asp2680=)	NC_000011.9:g.118374647C>T	(Likely) benign	1 lab	7c1a0428f0
17:43552599 PLEKHM1 A>G	17	43552599	43552599	A	G	PLEKHM1	c.790T>C	NM_014798.3	NP_055613.1:p.(Cys264Arg)	NC_000017.10:g.43552599A>G	VUS	1 lab	7c1af6e823
20:33033090 ITCH A>T	20	33033090	33033090	A	T	ITCH	c.966-2A>T	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33033090A>T	(Likely) benign	1 lab	7c1b6030fe
17:38792313 SMARCE1 G>A	17	38792313	38792313	G	A	SMARCE1	c.411C>T	NM_003079.5	NP_003070.3:p.(Pro137=)	NC_000017.10:g.38792313G>A	(Likely) benign	1 lab	7c1be99553
11:102820882 MMP13 C>T	11	102820882	102820882	C	T	MMP13	c.874G>A	NM_002427.4	NP_002418.1:p.(Ala292Thr)	NC_000011.9:g.102820882C>T	VUS	1 lab	7c1cc42df0
13:25453409 RNF17 G>T	13	25453409	25453409	G	T	RNF17	c.4858G>T	NM_031277.3	NP_112567.2:p.(Asp1620Tyr)	NC_000013.10:g.25453409G>T	(Likely) benign	1 lab	7c1ea5ec30
3:136437710 STAG1 G>A	3	136437710	136437710	G	A	STAG1	c.-84+33327C>T	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136437710G>A	VUS	1 lab	7c1eb34f2c
16:2169114 PKD1 C>T	16	2169114	2169114	C	T	PKD1	c.359+1G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2169114C>T	(Likely) pathogenic	1 lab	7c1f115be3
14:64632126 SYNE2 C>G	14	64632126	64632126	C	G	SYNE2	c.16603C>G	NM_182914.3	NP_878918.2:p.(Leu5535Val)	NC_000014.8:g.64632126C>G	(Likely) benign	1 lab	7c222d68fc
16:3828784 CREBBP C>G	16	3828784	3828784	C	G	CREBBP	c.1858G>C	NM_004380.3	NP_004371.2:p.(Ala620Pro)	NC_000016.9:g.3828784C>G	VUS	1 lab	7c222dc8ca
5:127510323 SLC12A2 C>A	5	127510323	127510323	C	A	SLC12A2	c.2894C>A	NM_001046.3	NP_001037.1:p.(Ser965Tyr)	NC_000005.9:g.127510323C>A	(Likely) benign	1 lab	7c22bf41fe
15:101593484 LRRK1 C>T	15	101593484	101593484	C	T	LRRK1	c.3913C>T	NM_024652.6	NP_078928.3:p.(Arg1305Trp)	NC_000015.9:g.101593484C>T	VUS	1 lab	7c234efcab
3:149245702 WWTR1 G>C	3	149245702	149245702	G	C	WWTR1	c.826C>G	NM_015472.6	NP_056287.1:p.(Gln276Glu)	NC_000003.11:g.149245702G>C	(Likely) benign	1 lab	7c24c452e6
6:31545193 TNF T>A	6	31545193	31545193	T	A	TNF	c.581T>A	NM_000594.4	NP_000585.2:p.(Ile194Asn)	NC_000006.11:g.31545193T>A	VUS	1 lab	7c25da69e9
X:119673189 CUL4B CT>C	X	119673189	119673192	CT	C	CUL4B	c.1674del	NM_001079872.2	NP_001073341.1:p.(Glu559LysfsTer15)	NC_000023.10:g.119673192del	(Likely) pathogenic	1 lab	7c2632d72b
14:105787273 PACS2 G>A	14	105787273	105787273	G	A	PACS2	c.119+5899G>A	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105787273G>A	(Likely) benign	1 lab	7c28cedb62
11:70348326 SHANK2 C>A	11	70348326	70348326	C	A	SHANK2	c.2263G>T	NM_012309.5	NP_036441.2:p.(Glu755Ter)	NC_000011.9:g.70348326C>A	(Likely) pathogenic	1 lab	7c299c51a8
9:37784728 EXOSC3 TGA>T	9	37784728	37784733	TGA	T	EXOSC3	c.312_313del	NM_016042.4	NP_057126.2:p.(Gln105AlafsTer19)	NC_000009.11:g.37784732_37784733del	(Likely) pathogenic	1 lab	7c299d2e1d
14:91739760 CCDC88C C>T	14	91739760	91739760	C	T	CCDC88C	c.5296G>A	NM_001080414.4	NP_001073883.2:p.(Val1766Met)	NC_000014.8:g.91739760C>T	(Likely) benign	1 lab	7c2a51579f
1:8420238 RERE G>T	1	8420238	8420238	G	T	RERE	c.3329C>A	NM_001042681.2	NP_001036146.1:p.(Pro1110Gln)	NC_000001.10:g.8420238G>T	VUS	1 lab	7c2e367c0d
20:43043306 HNF4A A>G	20	43043306	43043306	A	G	HNF4A	c.648+4A>G	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43043306A>G	(Likely) benign	1 lab	7c2e95d887
14:75515342 MLH3 G>A	14	75515342	75515342	G	A	MLH3	c.1017C>T	NM_001040108.2	NP_001035197.1:p.(Cys339=)	NC_000014.8:g.75515342G>A	VUS	1 lab	7c2fc53f8c
6:36931598 PI16 G>A	6	36931598	36931598	G	A	PI16	c.1271-1G>A	NM_153370.3	NP_699201.2:p.?	NC_000006.11:g.36931598G>A	VUS	1 lab	7c2fe747e2
19:7120766 INSR A>G	19	7120766	7120766	A	G	INSR	c.3530-6T>C	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7120766A>G	(Likely) benign	1 lab	7c305ed04b
16:17353090 XYLT1 G>C	16	17353090	17353090	G	C	XYLT1	c.668C>G	NM_022166.4	NP_071449.1:p.(Ala223Gly)	NC_000016.9:g.17353090G>C	(Likely) benign	1 lab	7c310f3008
1:168065817 GPR161 C>T	1	168065817	168065817	C	T	GPR161	c.1028G>A	NM_001375883.1	NP_001362812.1:p.(Arg343Gln)	NC_000001.10:g.168065817C>T	VUS	1 lab	7c33590601
3:151166494 IGSF10 A>T	3	151166494	151166494	A	T	IGSF10	c.1275T>A	NM_178822.5	NP_849144.2:p.(Asp425Glu)	NC_000003.11:g.151166494A>T	VUS	1 lab	7c36afd4d1
16:2169193 PKD1 G>A	16	2169193	2169193	G	A	PKD1	c.288-7C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2169193G>A	(Likely) benign	1 lab	7c372f68c1
3:119334906 PLA1A G>A	3	119334906	119334906	G	A	PLA1A	c.712G>A	NM_015900.4	NP_056984.1:p.(Gly238Arg)	NC_000003.11:g.119334906G>A	VUS	1 lab	7c373f4aeb
6:129691074 LAMA2 T>C	6	129691074	129691074	T	C	LAMA2	c.4898T>C	NM_000426.4	NP_000417.3:p.(Ile1633Thr)	NC_000006.11:g.129691074T>C	VUS	1 lab	7c3827ed64
1:169796336 FIRRM A>G	1	169796336	169796336	A	G	FIRRM	c.993A>G	NM_001320047.2	NP_001306976.1:p.(Lys331=)	NC_000001.10:g.169796336A>G	VUS	1 lab	7c38368807
4:6303913 WFS1 C>T	4	6303913	6303913	C	T	WFS1	c.2391C>T	NM_006005.3	NP_005996.2:p.(Asp797=)	NC_000004.11:g.6303913C>T	(Likely) benign	1 lab	7c3948cf1b
16:89350425 ANKRD11 AACC>A	16	89350425	89350431	AACC	A	ANKRD11	c.2522_2524del	NM_013275.6	NP_037407.4:p.(Trp841del)	NC_000016.9:g.89350429_89350431del	VUS	1 lab	7c3a7cd26c
15:99467924 IGF1R T>G	15	99467924	99467924	T	G	IGF1R	c.2782+11T>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467924T>G	(Likely) benign	1 lab	7c3ac9886e
3:10076151 FANCD2 A>T	3	10076151	10076151	A	T	FANCD2	c.206-2A>T	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10076151A>T	(Likely) pathogenic	1 lab	7c3ae4f483
20:43047151 HNF4A A>G	20	43047151	43047151	A	G	HNF4A	c.735A>G	NM_000457.5	NP_000448.3:p.(Leu245=)	NC_000020.10:g.43047151A>G	(Likely) benign	1 lab	7c3b659d8f
14:105407601 AHNAK2 T>C	14	105407601	105407601	T	C	AHNAK2	c.14187A>G	NM_138420.4	NP_612429.2:p.(Ile4729Met)	NC_000014.8:g.105407601T>C	VUS	1 lab	7c3d89a081
10:75834678 VCL G>C	10	75834678	75834678	G	C	VCL	c.783+17G>C	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75834678G>C	(Likely) benign	1 lab	252774225b
12:52082568 SCN8A G>A	12	52082568	52082568	G	A	SCN8A	c.641G>A	NM_014191.4	NP_055006.1:p.(Gly214Asp)	NC_000012.11:g.52082568G>A	(Likely) pathogenic	1 lab	252d5408f7
12:9073668 PHC1 A>G	12	9073668	9073668	A	G	PHC1	c.306+7A>G	NM_004426.3	NP_004417.2:p.?	NC_000012.11:g.9073668A>G	(Likely) benign	1 lab	7c42868cb5
1:155209752 GBA1 G>A	1	155209752	155209752	G	A	GBA1	c.232C>T	NM_000157.4	NP_000148.2:p.(Arg78Cys)	NC_000001.10:g.155209752G>A	VUS	1 lab	7c44bd0a3c
1:1961597 GABRD AG>A	1	1961597	1961603	AG	A	GABRD	c.1241del	NM_000815.5	NP_000806.2:p.(Gly414AlafsTer95)	NC_000001.10:g.1961603del	VUS	1 lab	7c4558f25d
20:31507947 EFCAB8 T>C	20	31507947	31507947	T	C	EFCAB8	c.2338T>C	NM_001143967.2	NP_001137439.1:p.(Tyr780His)	NC_000020.10:g.31507947T>C	VUS	1 lab	7c47c7907d
15:77322880 PSTPIP1 G>C	15	77322880	77322880	G	C	PSTPIP1	c.600G>C	NM_003978.3	NP_003969.2:p.(Lys200Asn)	NC_000015.9:g.77322880G>C	(Likely) benign	1 lab	332d2e2034
2:239756937 TWIST2 G>C	2	239756937	239756937	G	C	TWIST2	c.81G>C	NM_001271893.4	NP_001258822.1:p.(Lys27Asn)	NC_000002.11:g.239756937G>C	VUS	1 lab	7c49318018
15:44941090 SPG11 A>ACCT	15	44941090	44941093	A	ACCT	SPG11	c.1573_1575dup	NM_025137.4	NP_079413.3:p.(Arg525dup)	NC_000015.9:g.44941091_44941093dup	VUS	1 lab	7c4a040009
17:41244822 BRCA1 T>A	17	41244822	41244822	T	A	BRCA1	c.2726A>T	NM_007294.4	NP_009225.1:p.(Asn909Ile)	NC_000017.10:g.41244822T>A	(Likely) benign	1 lab	23bc49a4e6
11:64428327 NRXN2 C>A	11	64428327	64428327	C	A	NRXN2	c.2083G>T	NM_015080.4	NP_055895.1:p.(Ala695Ser)	NC_000011.9:g.64428327C>A	(Likely) benign	1 lab	7c4b5c3752
3:58131704 FLNB G>T	3	58131704	58131704	G	T	FLNB	c.5482G>T	NM_001457.4	NP_001448.2:p.(Gly1828Cys)	NC_000003.11:g.58131704G>T	VUS	1 lab	7c4bd14b48
2:27590395 EIF2B4 T>G	2	27590395	27590395	T	G	EIF2B4	c.814A>C	NM_001034116.2	NP_001029288.1:p.(Ser272Arg)	NC_000002.11:g.27590395T>G	VUS	1 lab	7c4d22212f
7:151970951 KMT2C C>T	7	151970951	151970951	C	T	KMT2C	c.851G>A	NM_170606.3	NP_733751.2:p.(Arg284Gln)	NC_000007.13:g.151970951C>T	(Likely) benign	1 lab	7c4e2b9cd7
4:6302412 WFS1 T>A	4	6302412	6302412	T	A	WFS1	c.890T>A	NM_006005.3	NP_005996.2:p.(Met297Lys)	NC_000004.11:g.6302412T>A	VUS	1 lab	7c504d3a46
2:158630607 ACVR1 C>G	2	158630607	158630607	C	G	ACVR1	c.636G>C	NM_001111067.4	NP_001104537.1:p.(Glu212Asp)	NC_000002.11:g.158630607C>G	VUS	1 lab	7c50a03a8a
16:2108880 TSC2 G>T	16	2108880	2108880	G	T	TSC2	c.975+6G>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2108880G>T	(Likely) benign	1 lab	7c51c01316
2:182542837 NEUROD1 C>A	2	182542837	182542837	C	A	NEUROD1	c.751G>T	NM_002500.5	NP_002491.3:p.(Ala251Ser)	NC_000002.11:g.182542837C>A	(Likely) benign	1 lab	7c51f6125a
16:89712941 CHMP1A G>C	16	89712941	89712941	G	C	CHMP1A	c.563C>G	NM_002768.5	NP_002759.2:p.(Ser188Ter)	NC_000016.9:g.89712941G>C	VUS	1 lab	7c524cacda
X:24766440 POLA1 G>A	X	24766440	24766440	G	A	POLA1	c.2704G>A	NM_001330360.2	NP_001317289.1:p.(Glu902Lys)	NC_000023.10:g.24766440G>A	(Likely) benign	1 lab	7c54f7eaee
14:67786931 PALS1 CT>C	14	67786931	67786939	CT	C	PALS1	c.1370-8del	NM_022474.4	NP_071919.2:p.?	NC_000014.8:g.67786939del	VUS	1 lab	7c57e8003c
5:55256370 IL6ST G>A	5	55256370	55256370	G	A	IL6ST	c.833C>T	NM_002184.4	NP_002175.2:p.(Ala278Val)	NC_000005.9:g.55256370G>A	VUS	1 lab	7c5831de5d
10:104309851 SUFU G>A	10	104309851	104309851	G	A	SUFU	c.442G>A	NM_016169.4	NP_057253.2:p.(Val148Met)	NC_000010.10:g.104309851G>A	VUS	1 lab	7c58f819ed
3:44951677 TGM4 A>G	3	44951677	44951677	A	G	TGM4	c.1423A>G	NM_003241.4	NP_003232.2:p.(Met475Val)	NC_000003.11:g.44951677A>G	(Likely) benign	1 lab	7c5914e027
X:47842356 ZNF182 G>T	X	47842356	47842356	G	T	ZNF182	c.225C>A	NM_001007088.2	NP_001007089.1:p.(Asn75Lys)	NC_000023.10:g.47842356G>T	(Likely) benign	1 lab	7c59f44651
1:22201004 HSPG2 C>T	1	22201004	22201004	C	T	HSPG2	c.3551G>A	NM_005529.7	NP_005520.4:p.(Gly1184Asp)	NC_000001.10:g.22201004C>T	VUS	1 lab	23bc83d4f2
1:38280848 MTF1 C>T	1	38280848	38280848	C	T	MTF1	c.2222G>A	NM_005955.3	NP_005946.2:p.(Gly741Glu)	NC_000001.10:g.38280848C>T	(Likely) benign	1 lab	7c5caaf234
4:16181269 TAPT1 G>A	4	16181269	16181269	G	A	TAPT1	c.928C>T	NM_153365.3	NP_699196.2:p.(Arg310Ter)	NC_000004.11:g.16181269G>A	VUS	1 lab	7c5d837177
17:63534466 AXIN2 AG>A	17	63534466	63534468	AG	A	AXIN2	c.1060-6del	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63534468del	VUS	1 lab	7c5dd8736d
3:123452716 MYLK G>A	3	123452716	123452716	G	A	MYLK	c.1127C>T	NM_053025.4	NP_444253.3:p.(Pro376Leu)	NC_000003.11:g.123452716G>A	(Likely) benign	1 lab	7c5fe6e749
17:45369546 ITGB3 G>C	17	45369546	45369546	G	C	ITGB3	c.1302G>C	NM_000212.3	NP_000203.2:p.(Gln434His)	NC_000017.10:g.45369546G>C	VUS	1 lab	7c5ff4f77e
3:196018231 DYNLT2B G>A	3	196018231	196018231	G	A	DYNLT2B	c.396C>T	NM_152773.5	NP_689986.2:p.(Cys132=)	NC_000003.11:g.196018231G>A	(Likely) benign	1 lab	7c604d3c9f
18:42456573 SETBP1 G>T	18	42456573	42456573	G	T	SETBP1	c.540+7325G>T	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456573G>T	VUS	1 lab	7c60952bd0
16:14676034 PARN G>A	16	14676034	14676034	G	A	PARN	c.1192+4C>T	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14676034G>A	(Likely) benign	1 lab	7c611e621e
22:51158954 SHANK3 C>T	22	51158954	51158954	C	T	SHANK3	c.2918C>T	NM_001372044.2	NP_001358973.1:p.(Ser973Leu)	NC_000022.10:g.51158954C>T	VUS	1 lab	7c62aea5f1
19:46319806 SYMPK G>A	19	46319806	46319806	G	A	SYMPK	c.3288C>T	NM_004819.3	NP_004810.2:p.(Thr1096=)	NC_000019.9:g.46319806G>A	(Likely) benign	1 lab	7c62ed67d4
15:79103519 ADAMTS7 C>A	15	79103519	79103519	C	A	ADAMTS7	c.44G>T	NM_014272.5	NP_055087.2:p.(Arg15Leu)	NC_000015.9:g.79103519C>A	(Likely) benign	1 lab	7c63c3e60b
8:103225125 RRM2B G>T	8	103225125	103225125	G	T	RRM2B	c.790-8C>A	NM_015713.5	NP_056528.2:p.?	NC_000008.10:g.103225125G>T	(Likely) benign	1 lab	7c655849b3
3:100467188 TFG A>G	3	100467188	100467188	A	G	TFG	c.1016A>G	NM_006070.6	NP_006061.2:p.(Tyr339Cys)	NC_000003.11:g.100467188A>G	VUS	1 lab	23c2031818
7:103202406 RELN C>CAAAAA	7	103202406	103202425	C	CAAAAA	RELN	c.5211-11_5211-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202421_103202425dup	(Likely) benign	1 lab	7c67c589d0
20:62325781 RTEL1 G>A	20	62325781	62325781	G	A	RTEL1	c.3049G>A	NM_001283009.2	NP_001269938.1:p.(Asp1017Asn)	NC_000020.10:g.62325781G>A	(Likely) benign	1 lab	7c67faef0c
16:53878082 FTO G>A	16	53878082	53878082	G	A	FTO	c.767G>A	NM_001080432.3	NP_001073901.1:p.(Ser256Asn)	NC_000016.9:g.53878082G>A	(Likely) benign	1 lab	7c6856685b
19:5144893 KDM4B G>A	19	5144893	5144893	G	A	KDM4B	c.3001G>A	NM_015015.3	NP_055830.1:p.(Val1001Ile)	NC_000019.9:g.5144893G>A	(Likely) benign	1 lab	7c69acb1dd
17:61877957 DDX42 C>G	17	61877957	61877957	C	G	DDX42	c.601C>G	NM_203499.3	NP_987095.1:p.(Pro201Ala)	NC_000017.10:g.61877957C>G	VUS	1 lab	7c69e60bdc
12:18576899 PIK3C2G C>A	12	18576899	18576899	C	A	PIK3C2G	c.2430C>A	NM_001288772.2	NP_001275701.1:p.(Asn810Lys)	NC_000012.11:g.18576899C>A	(Likely) benign	1 lab	7c6a3fd717
15:91448686 MAN2A2 C>T	15	91448686	91448686	C	T	MAN2A2	c.338C>T	NM_006122.4	NP_006113.2:p.(Pro113Leu)	NC_000015.9:g.91448686C>T	VUS	1 lab	7c6b93a2ec
12:48377503 COL2A1 C>T	12	48377503	48377503	C	T	COL2A1	c.1958G>A	NM_001844.5	NP_001835.3:p.(Arg653Gln)	NC_000012.11:g.48377503C>T	VUS	1 lab	7c6bce8129
X:48925512 CCDC120 A>C	X	48925512	48925512	A	C	CCDC120	c.1862A>C	NM_001163321.4	NP_001156793.2:p.(His621Pro)	NC_000023.10:g.48925512A>C	VUS	1 lab	7c6bf43f2d
4:121961185 NDNF GTCT>G	4	121961185	121961193	GTCT	G	NDNF	c.210_212del	NM_024574.4	NP_078850.3:p.(Glu70del)	NC_000004.11:g.121961191_121961193del	(Likely) benign	1 lab	7c6d08ca58
7:142457365 PRSS1 G>T	7	142457365	142457365	G	T	PRSS1	c.30G>T	NM_002769.5	NP_002760.1:p.(Val10=)	NC_000007.13:g.142457365G>T	(Likely) benign	1 lab	7c6d5d9ca7
12:23893868 SOX5 T>G	12	23893868	23893868	T	G	SOX5	c.674A>C	NM_006940.6	NP_008871.3:p.(Lys225Thr)	NC_000012.11:g.23893868T>G	VUS	1 lab	23c2679b9a
12:124228389 ATP6V0A2 C>T	12	124228389	124228389	C	T	ATP6V0A2	c.1096C>T	NM_012463.4	NP_036595.2:p.(Pro366Ser)	NC_000012.11:g.124228389C>T	VUS	1 lab	7c6e69c978
3:134265070 CEP63 A>T	3	134265070	134265070	A	T	CEP63	c.869A>T	NM_001353108.3	NP_001340037.1:p.(Lys290Met)	NC_000003.11:g.134265070A>T	VUS	1 lab	7c708073a5
11:17429956 ABCC8 C>T	11	17429956	17429956	C	T	ABCC8	c.2803G>A	NM_000352.6	NP_000343.2:p.(Asp935Asn)	NC_000011.9:g.17429956C>T	VUS	1 lab	7c70b4f133
16:28877542 SH2B1 C>T	16	28877542	28877542	C	T	SH2B1	c.127C>T	NM_001387430.1	NP_001374359.1:p.(Arg43Cys)	NC_000016.9:g.28877542C>T	VUS	1 lab	7c70e3a88f
15:33096531 FMN1 T>C	15	33096531	33096531	T	C	FMN1	c.3931A>G	NM_001277313.2	NP_001264242.1:p.(Lys1311Glu)	NC_000015.9:g.33096531T>C	(Likely) benign	1 lab	7c710ca593
2:220423149 OBSL1 G>A	2	220423149	220423149	G	A	OBSL1	c.3259C>T	NM_015311.3	NP_056126.1:p.(Arg1087Cys)	NC_000002.11:g.220423149G>A	(Likely) benign	1 lab	7c71252e2d
16:68373719 PRMT7 T>C	16	68373719	68373719	T	C	PRMT7	c.775T>C	NM_019023.5	NP_061896.1:p.(Ser259Pro)	NC_000016.9:g.68373719T>C	VUS	1 lab	7c71edb941
3:157823583 SHOX2 ACCTCCTCCG>A	3	157823583	157823603	ACCTCCTCCG	A	SHOX2	c.222_230del	NM_001163678.2	NP_001157150.1:p.(Gly75_Gly77del)	NC_000003.11:g.157823595_157823603del	VUS	1 lab	7c755bc951
5:80169038 MSH3 T>C	5	80169038	80169038	T	C	MSH3	c.3234T>C	NM_002439.5	NP_002430.3:p.(Val1078=)	NC_000005.9:g.80169038T>C	(Likely) benign	1 lab	7c75ad5e19
X:133632439 HPRT1 C>G	X	133632439	133632439	C	G	HPRT1	c.505C>G	NM_000194.3	NP_000185.1:p.(Pro169Ala)	NC_000023.10:g.133632439C>G	VUS	1 lab	7c76814ec6
X:17746067 NHS C>T	X	17746067	17746067	C	T	NHS	c.3841C>T	NM_001291867.2	NP_001278796.1:p.(Arg1281Cys)	NC_000023.10:g.17746067C>T	(Likely) benign	1 lab	7c7878720f
2:112638330 ANAPC1 G>C	2	112638330	112638330	G	C	ANAPC1	c.73C>G	NM_022662.4	NP_073153.1:p.(Arg25Gly)	NC_000002.11:g.112638330G>C	VUS	1 lab	7c79599d9b
3:167293828 WDR49 G>A	3	167293828	167293828	G	A	WDR49	c.1387C>T	NM_001366157.1	NP_001353086.1:p.(Arg463Ter)	NC_000003.11:g.167293828G>A	VUS	1 lab	7c7991e026
3:9512528 SETD5 T>C	3	9512528	9512528	T	C	SETD5	c.3110T>C	NM_001080517.3	NP_001073986.1:p.(Leu1037Pro)	NC_000003.11:g.9512528T>C	VUS	1 lab	7c79e43adc
5:122758727 CEP120 G>C	5	122758727	122758727	G	C	CEP120	c.-35C>G	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122758727G>C	VUS	1 lab	7c7c84f5ec
11:61725707 BEST1 G>C	11	61725707	61725707	G	C	BEST1	c.804G>C	NM_004183.4	NP_004174.1:p.(Glu268Asp)	NC_000011.9:g.61725707G>C	VUS	1 lab	7c7cd6d82f
4:6302365 WFS1 C>T	4	6302365	6302365	C	T	WFS1	c.862-19C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6302365C>T	(Likely) benign	1 lab	7c7d9d3c7c
16:9057131 USP7 C>G	16	9057131	9057131	C	G	USP7	c.12G>C	NM_003470.3	NP_003461.2:p.(Gln4His)	NC_000016.9:g.9057131C>G	(Likely) benign	1 lab	7c7e80b588
6:44119750 TMEM63B G>T	6	44119750	44119750	G	T	TMEM63B	c.1836+5G>T	NM_018426.3	NP_060896.1:p.?	NC_000006.11:g.44119750G>T	VUS	1 lab	7c7ee29bf1
2:182543157 NEUROD1 C>A	2	182543157	182543157	C	A	NEUROD1	c.431G>T	NM_002500.5	NP_002491.3:p.(Arg144Leu)	NC_000002.11:g.182543157C>A	VUS	1 lab	7c7f12a616
14:69445651 ACTN1 G>A	14	69445651	69445651	G	A	ACTN1	c.105+18C>T	NM_001130004.2	NP_001123476.1:p.?	NC_000014.8:g.69445651G>A	(Likely) benign	1 lab	7c7f91b5a0
8:144994385 PLEC C>T	8	144994385	144994385	C	T	PLEC	c.9604G>A	NM_201384.3	NP_958786.1:p.(Asp3202Asn)	NC_000008.10:g.144994385C>T	VUS	1 lab	7c800806a5
11:61081049 DDB1 T>C	11	61081049	61081049	T	C	DDB1	c.1991A>G	NM_001923.5	NP_001914.3:p.(His664Arg)	NC_000011.9:g.61081049T>C	VUS	1 lab	7c80ca8772
19:42853787 MEGF8 C>T	19	42853787	42853787	C	T	MEGF8	c.2435C>T	NM_001271938.2	NP_001258867.1:p.(Ser812Leu)	NC_000019.9:g.42853787C>T	VUS	1 lab	7c82afc3fd
19:50100415 PRR12 C>A	19	50100415	50100415	C	A	PRR12	c.2823C>A	NM_020719.3	NP_065770.1:p.(Asp941Glu)	NC_000019.9:g.50100415C>A	VUS	1 lab	23c455c903
19:51172405 SHANK1 C>T	19	51172405	51172405	C	T	SHANK1	c.2812G>A	NM_016148.5	NP_057232.2:p.(Val938Ile)	NC_000019.9:g.51172405C>T	(Likely) benign	1 lab	7c839c1fbc
20:52574046 BCAS1 C>T	20	52574046	52574046	C	T	BCAS1	c.1486-10G>A	NM_001366298.2	NP_001353227.1:p.?	NC_000020.10:g.52574046C>T	(Likely) benign	1 lab	7c84686c0b
18:25565081 CDH2 C>T	18	25565081	25565081	C	T	CDH2	c.2092G>A	NM_001792.5	NP_001783.2:p.(Val698Met)	NC_000018.9:g.25565081C>T	VUS	1 lab	7c84aa8418
1:986963 AGRN C>T	1	986963	986963	C	T	AGRN	c.5501C>T	NM_198576.4	NP_940978.2:p.(Pro1834Leu)	NC_000001.10:g.986963C>T	VUS	1 lab	7c85a9e6c2
20:43048477 HNF4A G>A	20	43048477	43048477	G	A	HNF4A	c.853G>A	NM_000457.5	NP_000448.3:p.(Glu285Lys)	NC_000020.10:g.43048477G>A	(Likely) pathogenic	1 lab	7c8617f998
17:48668347 CACNA1G C>G	17	48668347	48668347	C	G	CACNA1G	c.2453+364C>G	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48668347C>G	(Likely) benign	1 lab	7c872dafc4
10:61898838 ANK3 A>T	10	61898838	61898838	A	T	ANK3	c.2622T>A	NM_020987.5	NP_066267.2:p.(Asp874Glu)	NC_000010.10:g.61898838A>T	VUS	1 lab	7c87a04fe8
18:59739915 PIGN A>G	18	59739915	59739915	A	G	PIGN	c.2663T>C	NM_176787.5	NP_789744.1:p.(Ile888Thr)	NC_000018.9:g.59739915A>G	VUS	1 lab	7c88333adf
11:6412683 SMPD1 C>T	11	6412683	6412683	C	T	SMPD1	c.388C>T	NM_000543.5	NP_000534.3:p.(Pro130Ser)	NC_000011.9:g.6412683C>T	VUS	1 lab	7c886f4d5b
11:17449140 ABCC8 A>G	11	17449140	17449140	A	G	ABCC8	c.2116+274T>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17449140A>G	(Likely) benign	1 lab	7c889dde95
10:105209166 CALHM2 C>T	10	105209166	105209166	C	T	CALHM2	c.533G>A	NM_015916.5	NP_057000.2:p.(Arg178His)	NC_000010.10:g.105209166C>T	VUS	1 lab	7c88d72400
X:70353550 MED12 G>A	X	70353550	70353550	G	A	MED12	c.4617+488G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70353550G>A	(Likely) benign	1 lab	7c88f3e4e4
1:27121102 PIGV G>A	1	27121102	27121102	G	A	PIGV	c.577G>A	NM_017837.4	NP_060307.2:p.(Val193Ile)	NC_000001.10:g.27121102G>A	(Likely) benign	1 lab	7c8927b5e2
17:61995282 GH1 G>A	17	61995282	61995282	G	A	GH1	c.294C>T	NM_000515.5	NP_000506.2:p.(Asn98=)	NC_000017.10:g.61995282G>A	(Likely) benign	1 lab	7c895f6e81
16:57784811 KATNB1 C>T	16	57784811	57784811	C	T	KATNB1	c.362C>T	NM_005886.3	NP_005877.2:p.(Ala121Val)	NC_000016.9:g.57784811C>T	VUS	1 lab	7c89bc9f23
19:31767966 TSHZ3 G>A	19	31767966	31767966	G	A	TSHZ3	c.2733C>T	NM_020856.4	NP_065907.2:p.(Ala911=)	NC_000019.9:g.31767966G>A	(Likely) benign	1 lab	2538df9284
X:114424955 RBMXL3 G>A	X	114424955	114424955	G	A	RBMXL3	c.951G>A	NM_001145346.2	NP_001138818.1:p.(Trp317Ter)	NC_000023.10:g.114424955G>A	VUS	1 lab	7c8b4772bd
17:71192866 COG1 A>G	17	71192866	71192866	A	G	COG1	c.536A>G	NM_018714.3	NP_061184.1:p.(Gln179Arg)	NC_000017.10:g.71192866A>G	VUS	1 lab	7c8ce3cc8f
22:50656176 TUBGCP6 GGTA>G	22	50656176	50656184	GGTA	G	TUBGCP6	c.5446_5448del	NM_020461.4	NP_065194.3:p.(Tyr1816del)	NC_000022.10:g.50656182_50656184del	VUS	1 lab	7c8f0d7fdf
3:48624523 COL7A1 G>A	3	48624523	48624523	G	A	COL7A1	c.3158C>T	NM_000094.4	NP_000085.1:p.(Ala1053Val)	NC_000003.11:g.48624523G>A	(Likely) benign	1 lab	7c8fdd19ce
16:2153418 PKD1 C>T	16	2153418	2153418	C	T	PKD1	c.8640G>A	NM_001009944.3	NP_001009944.3:p.(Ser2880=)	NC_000016.9:g.2153418C>T	(Likely) benign	1 lab	7c902da85b
16:2809149 SRRM2 C>T	16	2809149	2809149	C	T	SRRM2	c.665C>T	NM_016333.4	NP_057417.3:p.(Ser222Phe)	NC_000016.9:g.2809149C>T	VUS	1 lab	7c9094a82f
9:94486536 ROR2 C>T	9	94486536	94486536	C	T	ROR2	c.2240G>A	NM_004560.4	NP_004551.2:p.(Arg747Gln)	NC_000009.11:g.94486536C>T	(Likely) benign	1 lab	7c91bed7a1
6:117244328 RFX6 G>A	6	117244328	117244328	G	A	RFX6	c.1496G>A	NM_173560.4	NP_775831.2:p.(Trp499Ter)	NC_000006.11:g.117244328G>A	(Likely) pathogenic	1 lab	7c91c33379
2:152473979 NEB AGCGCT>A	2	152473979	152473984	AGCGCT	A	NEB	c.11077-2_11079del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473980_152473984del	(Likely) benign	1 lab	7c936ff123
1:243456703 SDCCAG8 C>G	1	243456703	243456703	C	G	SDCCAG8	c.675+182C>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243456703C>G	VUS	1 lab	7c94234791
X:140996291 MAGEC1 ACTTTGC>A	X	140996291	140996302	ACTTTGC	A	MAGEC1	c.3107_3112del	NM_005462.5	NP_005453.2:p.(Ala1036_Phe1037del)	NC_000023.10:g.140996297_140996302del	VUS	1 lab	7c94dfe7a1
19:48806094 ODAD1 C>T	19	48806094	48806094	C	T	ODAD1	c.1097G>A	NM_001364171.2	NP_001351100.1:p.(Arg366His)	NC_000019.9:g.48806094C>T	(Likely) benign	1 lab	7c955a7e1d
2:179632658 TTN A>G	2	179632658	179632658	A	G	TTN	c.9168-7T>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179632658A>G	(Likely) benign	1 lab	253ad9a9ae
4:88968020 PKD2 G>T	4	88968020	88968020	G	T	PKD2	c.1546G>T	NM_000297.4	NP_000288.1:p.(Val516Leu)	NC_000004.11:g.88968020G>T	(Likely) benign	1 lab	7c98f6afb0
10:89504981 PAPSS2 C>A	10	89504981	89504981	C	A	PAPSS2	c.1714C>A	NM_001015880.2	NP_001015880.1:p.(Pro572Thr)	NC_000010.10:g.89504981C>A	(Likely) benign	1 lab	7c9b1d6f73
4:55138648 PDGFRA T>C	4	55138648	55138648	T	C	PDGFRA	c.1325T>C	NM_006206.6	NP_006197.1:p.(Leu442Pro)	NC_000004.11:g.55138648T>C	(Likely) benign	1 lab	7c9b5b3d20
6:26157024 H1-4 A>C	6	26157024	26157024	A	C	H1-4	c.406A>C	NM_005321.3	NP_005312.1:p.(Lys136Gln)	NC_000006.11:g.26157024A>C	VUS	1 lab	7c9b8d71b4
2:179410708 TTN C>G	2	179410708	179410708	C	G	TTN	c.95255G>C	NM_001267550.2	NP_001254479.2:p.(Arg31752Thr)	NC_000002.11:g.179410708C>G	VUS	1 lab	7c9c285846
1:168054794 GPR161 T>C	1	168054794	168054794	T	C	GPR161	c.1565A>G	NM_001375883.1	NP_001362812.1:p.(Asp522Gly)	NC_000001.10:g.168054794T>C	(Likely) benign	1 lab	7c9d13ad45
3:101445570 CEP97 G>A	3	101445570	101445570	G	A	CEP97	c.176G>A	NM_024548.4	NP_078824.2:p.(Arg59Gln)	NC_000003.11:g.101445570G>A	(Likely) benign	1 lab	7c9e24ac21
16:30066101 ALDOA C>G	16	30066101	30066101	C	G	ALDOA				NC_000016.9:g.30066101C>G	(Likely) benign	1 lab	7ca0aceb2a
14:92470940 TRIP11 G>A	14	92470940	92470940	G	A	TRIP11	c.3380C>T	NM_004239.4	NP_004230.2:p.(Ala1127Val)	NC_000014.8:g.92470940G>A	VUS	1 lab	7ca113ad83
9:124914680 NDUFA8 A>AT	9	124914680	124914684	A	AT	NDUFA8	c.58dup	NM_014222.3	NP_055037.1:p.(Ile20AsnfsTer2)	NC_000009.11:g.124914684dup	VUS	1 lab	7ca1a7c7e5
2:223066758 PAX3 A>T	2	223066758	223066758	A	T	PAX3	c.1325T>A	NM_181458.4	NP_852123.1:p.(Leu442Gln)	NC_000002.11:g.223066758A>T	VUS	1 lab	7ca268408a
18:19751811 GATA6 G>A	18	19751811	19751811	G	A	GATA6	c.706G>A	NM_005257.6	NP_005248.2:p.(Gly236Ser)	NC_000018.9:g.19751811G>A	VUS	1 lab	7ca313e268
19:58115759 ZNF530 GT>G	19	58115759	58115761	GT	G	ZNF530	c.48del	NM_001321981.2	NP_001308910.1:p.(Met17TrpfsTer4)	NC_000019.9:g.58115761del	VUS	1 lab	7ca46ca0c5
18:2775768 SMCHD1 G>C	18	2775768	2775768	G	C	SMCHD1	c.5212G>C	NM_015295.3	NP_056110.2:p.(Ala1738Pro)	NC_000018.9:g.2775768G>C	VUS	1 lab	7ca4776d41
15:59064420 MINDY2 C>T	15	59064420	59064420	C	T	MINDY2	c.826C>T	NM_001040450.3	NP_001035540.1:p.(Leu276Phe)	NC_000015.9:g.59064420C>T	(Likely) benign	1 lab	7ca6d04d06
15:57925928 MYZAP C>T	15	57925928	57925928	C	T	MYZAP	c.922C>T	NM_001018100.5	NP_001018110.1:p.(Arg308Cys)	NC_000015.9:g.57925928C>T	VUS	1 lab	23c541988f
12:57501928 STAT6 G>A	12	57501928	57501928	G	A	STAT6	c.116+18C>T	NM_001178078.2	NP_001171549.1:p.?	NC_000012.11:g.57501928G>A	(Likely) benign	1 lab	253cbbc85a
9:131371198 SPTAN1 G>A	9	131371198	131371198	G	A	SPTAN1	c.4537G>A	NM_001130438.3	NP_001123910.1:p.(Ala1513Thr)	NC_000009.11:g.131371198G>A	(Likely) benign	1 lab	7ca811cca2
1:196716394 CFH C>A	1	196716394	196716394	C	A	CFH	c.3647C>A	NM_000186.4	NP_000177.2:p.(Thr1216Lys)	NC_000001.10:g.196716394C>A	(Likely) benign	1 lab	7ca8b3bac4
17:39742623 KRT14 C>T	17	39742623	39742623	C	T	KRT14	c.464G>A	NM_000526.5	NP_000517.3:p.(Arg155Gln)	NC_000017.10:g.39742623C>T	VUS	1 lab	7ca8bbb071
17:10350535 MYH4 T>C	17	10350535	10350535	T	C	MYH4	c.4966-2A>G	NM_017533.2	NP_060003.2:p.?	NC_000017.10:g.10350535T>C	VUS	1 lab	7ca8eb7c15
1:186295264 TPR T>C	1	186295264	186295264	T	C	TPR	c.5993A>G	NM_003292.3	NP_003283.2:p.(Asn1998Ser)	NC_000001.10:g.186295264T>C	VUS	1 lab	7caded5406
22:26247472 MYO18B C>T	22	26247472	26247472	C	T	MYO18B	c.3811C>T	NM_032608.7	NP_115997.5:p.(Arg1271Trp)	NC_000022.10:g.26247472C>T	VUS	1 lab	7caf521932
8:144996727 PLEC C>T	8	144996727	144996727	C	T	PLEC	c.7370G>A	NM_201384.3	NP_958786.1:p.(Arg2457His)	NC_000008.10:g.144996727C>T	VUS	1 lab	7caffaa37c
X:77041466 ATRX A>G	X	77041466	77041466	A	G	ATRX	c.20+2T>C	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.77041466A>G	(Likely) pathogenic	1 lab	7cbbc0a386
3:111342667 CD96 A>T	3	111342667	111342667	A	T	CD96	c.1247A>T	NM_005816.5	NP_005807.1:p.(Gln416Leu)	NC_000003.11:g.111342667A>T	VUS	1 lab	7cb128b243
13:33591050 KL C>T	13	33591050	33591050	C	T	KL	c.472C>T	NM_004795.4	NP_004786.2:p.(Pro158Ser)	NC_000013.10:g.33591050C>T	VUS	1 lab	7cb147badd
6:13286468 PHACTR1 G>GT	6	13286468	13286478	G	GT	PHACTR1	c.1727+24dup	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13286478dup	(Likely) benign	1 lab	7cb1507000
1:22168734 HSPG2 T>C	1	22168734	22168734	T	C	HSPG2	c.9050A>G	NM_005529.7	NP_005520.4:p.(Tyr3017Cys)	NC_000001.10:g.22168734T>C	VUS	1 lab	23c741fbad
19:9868536 ZNF846 GAATT>G	19	9868536	9868541	GAATT	G	ZNF846	c.1213_1216del	NM_001077624.3	NP_001071092.1:p.(Asn405ProfsTer8)	NC_000019.9:g.9868538_9868541del	VUS	1 lab	7cb2feb32a
17:649616 GEMIN4 T>C	17	649616	649616	T	C	GEMIN4	c.1667A>G	NM_015721.3	NP_056536.2:p.(His556Arg)	NC_000017.10:g.649616T>C	VUS	1 lab	7cb3b97679
12:12870804 CDKN1B C>T	12	12870804	12870804	C	T	CDKN1B	c.31C>T	NM_004064.5	NP_004055.1:p.(Pro11Ser)	NC_000012.11:g.12870804C>T	VUS	1 lab	7cb608c413
10:28260249 ODAD2 T>C	10	28260249	28260249	T	C	ODAD2	c.937-7A>G	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28260249T>C	VUS	1 lab	7cb7477442
20:31575577 SUN5 G>A	20	31575577	31575577	G	A	SUN5	c.618C>T	NM_080675.4	NP_542406.2:p.(Ala206=)	NC_000020.10:g.31575577G>A	VUS	1 lab	7cb76e0a9b
6:157528078 ARID1B G>A	6	157528078	157528078	G	A	ARID1B	c.6172G>A	NM_001374828.1	NP_001361757.1:p.(Ala2058Thr)	NC_000006.11:g.157528078G>A	(Likely) benign	1 lab	7cb7c1a92d
19:39759374 IFNL2 C>G	19	39759374	39759374	C	G	IFNL2	c.68C>G	NM_172138.2	NP_742150.1:p.(Thr23Ser)	NC_000019.9:g.39759374C>G	(Likely) benign	1 lab	7cb8e2bc8d
9:141000229 CACNA1B C>T	9	141000229	141000229	C	T	CACNA1B	c.5398C>T	NM_000718.4	NP_000709.1:p.(Arg1800Trp)	NC_000009.11:g.141000229C>T	(Likely) benign	1 lab	7cbba9496c
7:143880895 CTAGE4 A>G	7	143880895	143880895	A	G	CTAGE4	c.299A>G	NM_198495.3	NP_940897.2:p.(Gln100Arg)	NC_000007.13:g.143880895A>G	(Likely) benign	1 lab	7cbbad4230
16:2143611 PKD1 G>A	16	2143611	2143611	G	A	PKD1	c.10950C>T	NM_001009944.3	NP_001009944.3:p.(His3650=)	NC_000016.9:g.2143611G>A	(Likely) benign	1 lab	7cbbbba08a
19:42471839 ATP1A3 C>A	19	42471839	42471839	C	A	ATP1A3	c.2935G>T	NM_001256214.2	NP_001243143.1:p.(Val979Leu)	NC_000019.9:g.42471839C>A	VUS	1 lab	23c99029a9
7:128485021 FLNC G>A	7	128485021	128485021	G	A	FLNC	c.3502G>A	NM_001458.5	NP_001449.3:p.(Gly1168Ser)	NC_000007.13:g.128485021G>A	VUS	1 lab	7cbc01b72e
12:49430910 KMT2D G>T	12	49430910	49430910	G	T	KMT2D	c.10229C>A	NM_003482.4	NP_003473.3:p.(Thr3410Lys)	NC_000012.11:g.49430910G>T	(Likely) benign	1 lab	7cbc99dd18
1:160090727 ATP1A2 C>T	1	160090727	160090727	C	T	ATP1A2	c.44C>T	NM_000702.4	NP_000693.1:p.(Thr15Met)	NC_000001.10:g.160090727C>T	(Likely) benign	1 lab	7cbdc13286
19:50412214 NUP62 C>CTGGTGG	19	50412214	50412217	C	CTGGTGG	NUP62	c.850_851insCCACCA	NM_016553.5	NP_057637.2:p.(Ser283_Ser284insThrThr)	NC_000019.9:g.50412216_50412217insGTGGTG	VUS	1 lab	7cbe249356
6:150285196 ULBP1 C>T	6	150285196	150285196	C	T	ULBP1	c.11C>T	NM_025218.4	NP_079494.1:p.(Ala4Val)	NC_000006.11:g.150285196C>T	(Likely) benign	1 lab	7cbe7e35aa
17:66519036 PRKAR1A CGGAGGAA>C	17	66519036	66519044	CGGAGGAA	C	PRKAR1A	c.319_325del	NM_002734.5	NP_002725.1:p.(Glu107MetfsTer20)	NC_000017.10:g.66519038_66519044del	(Likely) pathogenic	1 lab	7cc06cafc8
1:3639911 TP73 C>T	1	3639911	3639911	C	T	TP73	c.617-7C>T	NM_005427.4	NP_005418.1:p.?	NC_000001.10:g.3639911C>T	(Likely) benign	1 lab	7cc1192ef3
17:44143925 KANSL1 C>T	17	44143925	44143925	C	T	KANSL1	c.1826G>A	NM_015443.4	NP_056258.1:p.(Ser609Asn)	NC_000017.10:g.44143925C>T	(Likely) benign	1 lab	7cc19c619d
14:76524982 IFT43 C>T	14	76524982	76524982	C	T	IFT43	c.216-3C>T	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76524982C>T	(Likely) benign	1 lab	7cc31fdfc1
9:139400292 NOTCH1 G>A	9	139400292	139400292	G	A	NOTCH1	c.4056C>T	NM_017617.5	NP_060087.3:p.(Cys1352=)	NC_000009.11:g.139400292G>A	(Likely) benign	1 lab	7cc33574e3
20:60899196 LAMA5 C>T	20	60899196	60899196	C	T	LAMA5	c.5708G>A	NM_005560.6	NP_005551.3:p.(Arg1903Lys)	NC_000020.10:g.60899196C>T	(Likely) benign	1 lab	7cc3d057c2
8:145732114 GPT G>C	8	145732114	145732114	G	C	GPT	c.1288G>C	NM_005309.3	NP_005300.1:p.(Glu430Gln)	NC_000008.10:g.145732114G>C	VUS	1 lab	7cc4b28dc3
14:24727840 TGM1 T>A	14	24727840	24727840	T	A	TGM1	c.1199A>T	NM_000359.3	NP_000350.1:p.(Asn400Ile)	NC_000014.8:g.24727840T>A	VUS	1 lab	7cc64f2c9b
21:47864643 PCNT CCTGA>C	21	47864643	47864650	CCTGA	C	PCNT	c.9880_9883del	NM_006031.6	NP_006022.3:p.(Thr3294LeufsTer9)	NC_000021.8:g.47864647_47864650del	VUS	1 lab	7cc683a062
16:2156471 PKD1 C>A	16	2156471	2156471	C	A	PKD1	c.7417G>T	NM_001009944.3	NP_001009944.3:p.(Gly2473Trp)	NC_000016.9:g.2156471C>A	VUS	1 lab	7cc69e4cba
7:51261087 COBL T>C	7	51261087	51261087	T	C	COBL	c.445A>G	NM_015198.5	NP_056013.2:p.(Lys149Glu)	NC_000007.13:g.51261087T>C	(Likely) benign	1 lab	7cc73e0739
X:80047391 BRWD3 G>A	X	80047391	80047391	G	A	BRWD3	c.392C>T	NM_153252.5	NP_694984.5:p.(Pro131Leu)	NC_000023.10:g.80047391G>A	VUS	1 lab	7cc93559d7
16:53671509 RPGRIP1L C>T	16	53671509	53671509	C	T	RPGRIP1L	c.3220+98G>A	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53671509C>T	(Likely) benign	1 lab	253e3ee7b2
17:78247124 RNF213 C>T	17	78247124	78247124	C	T	RNF213	c.182C>T	NM_001256071.3	NP_001243000.2:p.(Pro61Leu)	NC_000017.10:g.78247124C>T	(Likely) benign	1 lab	7ccaf55f15
15:79054786 ADAMTS7 C>T	15	79054786	79054786	C	T	ADAMTS7	c.4862G>A	NM_014272.5	NP_055087.2:p.(Arg1621Gln)	NC_000015.9:g.79054786C>T	(Likely) benign	1 lab	7ccafa19b4
3:27763425 EOMES CGG>C	3	27763425	27763427	CGG	C	EOMES	c.359_360del	NM_001278182.2	NP_001265111.1:p.(Ala120GlyfsTer61)	NC_000003.11:g.27763426_27763427del	VUS	1 lab	7ccb064af7
12:52966327 KRT74 C>T	12	52966327	52966327	C	T	KRT74	c.596G>A	NM_175053.4	NP_778223.2:p.(Arg199Gln)	NC_000012.11:g.52966327C>T	(Likely) benign	1 lab	7ccb2414dc
16:2816529 SRRM2 A>G	16	2816529	2816529	A	G	SRRM2	c.6000A>G	NM_016333.4	NP_057417.3:p.(Pro2000=)	NC_000016.9:g.2816529A>G	(Likely) benign	1 lab	7ccc5a6c95
2:162875727 DPP4 TCTTA>T	2	162875727	162875735	TCTTA	T	DPP4	c.1298+2_1298+5del	NM_001935.4	NP_001926.2:p.?	NC_000002.11:g.162875732_162875735del	VUS	1 lab	7ccc62f4b0
1:120491183 NOTCH2 C>T	1	120491183	120491183	C	T	NOTCH2	c.2606G>A	NM_024408.4	NP_077719.2:p.(Arg869Gln)	NC_000001.10:g.120491183C>T	(Likely) benign	1 lab	7ccdd7d61b
17:18069749 MYO15A G>A	17	18069749	18069749	G	A	MYO15A	c.9862G>A	NM_016239.4	NP_057323.3:p.(Gly3288Ser)	NC_000017.10:g.18069749G>A	VUS	1 lab	7ccdeb833b
9:91940526 SECISBP2 C>G	9	91940526	91940526	C	G	SECISBP2	c.367C>G	NM_024077.5	NP_076982.3:p.(Gln123Glu)	NC_000009.11:g.91940526C>G	(Likely) benign	1 lab	7ccdfe25cc
11:44129494 EXT2 C>G	11	44129494	44129494	C	G	EXT2	c.232C>G	NM_207122.2	NP_997005.1:p.(Pro78Ala)	NC_000011.9:g.44129494C>G	VUS	1 lab	7cce213371
19:15288478 NOTCH3 C>A	19	15288478	15288478	C	A	NOTCH3	c.4261G>T	NM_000435.3	NP_000426.2:p.(Val1421Leu)	NC_000019.9:g.15288478C>A	VUS	1 lab	7cd0faad8e
1:160110664 ATP1A2 TTGA>T	1	160110664	160110667	TTGA	T	ATP1A2	c.3035-419_3035-417del	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160110665_160110667del	(Likely) benign	1 lab	7cd11227d6
20:44485952 ACOT8 C>CATCT	20	44485952	44485957	C	CATCT	ACOT8	c.-2_2dup	NM_005469.4	NP_005460.2:p.(Met1?)	NC_000020.10:g.44485954_44485957dup	VUS	1 lab	7cd1b54454
10:28270448 ODAD2 C>G	10	28270448	28270448	C	G	ODAD2	c.883G>C	NM_018076.5	NP_060546.2:p.(Val295Leu)	NC_000010.10:g.28270448C>G	(Likely) benign	1 lab	7cd2460e6b
9:124062168 GSN T>TGCTTTGCGCGCTGTCCCTGGC	9	124062168	124062192	T	TGCTTTGCGCGCTGTCCCTGGC	GSN	c.-9-2069_-9-2049dup	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062172_124062192dup	VUS	1 lab	7cd3ad358a
5:6607376 NSUN2 G>A	5	6607376	6607376	G	A	NSUN2	c.1445C>T	NM_017755.6	NP_060225.4:p.(Thr482Ile)	NC_000005.9:g.6607376G>A	(Likely) benign	1 lab	7cd4c69dfd
1:1454304 ATAD3A C>T	1	1454304	1454304	C	T	ATAD3A	c.448C>T	NM_001170535.3	NP_001164006.1:p.(Leu150Phe)	NC_000001.10:g.1454304C>T	(Likely) benign	1 lab	7cd53c98d9
4:166976250 TLL1 C>T	4	166976250	166976250	C	T	TLL1	c.1547C>T	NM_012464.5	NP_036596.3:p.(Ala516Val)	NC_000004.11:g.166976250C>T	(Likely) benign	1 lab	7cd5f4a182
19:5047478 KDM4B G>A	19	5047478	5047478	G	A	KDM4B	c.433-9G>A	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5047478G>A	(Likely) benign	1 lab	7cd6a639e0
15:41101337 ZFYVE19 C>G	15	41101337	41101337	C	G	ZFYVE19	c.300C>G	NM_001077268.2	NP_001070736.1:p.(Gly100=)	NC_000015.9:g.41101337C>G	VUS	1 lab	7cd7e8d62f
6:7231022 RREB1 A>G	6	7231022	7231022	A	G	RREB1	c.2690A>G	NM_001003699.4	NP_001003699.1:p.(Asn897Ser)	NC_000006.11:g.7231022A>G	(Likely) benign	1 lab	7cd9880b04
3:145838902 PLOD2 T>C	3	145838902	145838902	T	C	PLOD2	c.335A>G	NM_182943.3	NP_891988.1:p.(Glu112Gly)	NC_000003.11:g.145838902T>C	VUS	1 lab	7cdad5eff6
11:68773089 MRGPRF C>T	11	68773089	68773089	C	T	MRGPRF	c.689G>A	NM_145015.5	NP_659452.3:p.(Arg230Gln)	NC_000011.9:g.68773089C>T	(Likely) benign	1 lab	7cdb6ce977
3:105421034 CBLB C>T	3	105421034	105421034	C	T	CBLB	c.1863G>A	NM_170662.5	NP_733762.2:p.(Ala621=)	NC_000003.11:g.105421034C>T	(Likely) benign	1 lab	7cdcc07843
2:211521324 CPS1 A>G	2	211521324	211521324	A	G	CPS1	c.3634A>G	NM_001875.5	NP_001866.2:p.(Thr1212Ala)	NC_000002.11:g.211521324A>G	VUS	1 lab	7cdd0e4043
11:62457868 BSCL2 G>A	11	62457868	62457868	G	A	BSCL2	c.1360C>T	NM_001122955.4	NP_001116427.1:p.(Arg454Ter)	NC_000011.9:g.62457868G>A	VUS	1 lab	7cdf15e409
11:558983 LMNTD2 T>G	11	558983	558983	T	G	LMNTD2	c.35-4A>C	NM_173573.3	NP_775844.2:p.?	NC_000011.9:g.558983T>G	(Likely) benign	1 lab	7cdfeee9d3
13:101753203 NALCN C>T	13	101753203	101753203	C	T	NALCN	c.3094G>A	NM_052867.4	NP_443099.1:p.(Ala1032Thr)	NC_000013.10:g.101753203C>T	VUS	1 lab	7ce0ab85bf
3:48613867 COL7A1 C>T	3	48613867	48613867	C	T	COL7A1	c.5738G>A	NM_000094.4	NP_000085.1:p.(Gly1913Asp)	NC_000003.11:g.48613867C>T	(Likely) pathogenic	1 lab	23c9ba529d
2:219757773 WNT10A T>C	2	219757773	219757773	T	C	WNT10A	c.1034T>C	NM_025216.3	NP_079492.2:p.(Phe345Ser)	NC_000002.11:g.219757773T>C	VUS	1 lab	7ce3bb7c4e
13:32914636 BRCA2 T>G	13	32914636	32914636	T	G	BRCA2	c.6144T>G	NM_000059.4	NP_000050.3:p.(Asn2048Lys)	NC_000013.10:g.32914636T>G	(Likely) benign	1 lab	7ce44106fb
X:152018933 NSDHL T>C	X	152018933	152018933	T	C	NSDHL	c.233T>C	NM_015922.3	NP_057006.1:p.(Val78Ala)	NC_000023.10:g.152018933T>C	(Likely) benign	1 lab	7ce4618cc1
17:650739 GEMIN4 A>G	17	650739	650739	A	G	GEMIN4	c.544T>C	NM_015721.3	NP_056536.2:p.(Phe182Leu)	NC_000017.10:g.650739A>G	(Likely) benign	1 lab	7ce487e465
6:31599694 PRRC2A C>T	6	31599694	31599694	C	T	PRRC2A	c.3244C>T	NM_004638.4	NP_004629.3:p.(Arg1082Cys)	NC_000006.11:g.31599694C>T	VUS	1 lab	7ce635d195
1:22446724 WNT4 C>G	1	22446724	22446724	C	G	WNT4	c.875G>C	NM_030761.5	NP_110388.2:p.(Arg292Thr)	NC_000001.10:g.22446724C>G	VUS	1 lab	7ce6edd2e4
3:129238492 IFT122 C>T	3	129238492	129238492	C	T	IFT122	c.3553C>T	NM_052989.3	NP_443715.1:p.(Arg1185Ter)	NC_000003.11:g.129238492C>T	(Likely) pathogenic	1 lab	7ce7b65e9b
4:786350 CPLX1 C>G	4	786350	786350	C	G	CPLX1	c.78G>C	NM_006651.4	NP_006642.1:p.(Lys26Asn)	NC_000004.11:g.786350C>G	VUS	1 lab	7ce9e48f77
2:3469399 TRAPPC12 C>T	2	3469399	3469399	C	T	TRAPPC12	c.1709C>T	NM_016030.6	NP_057114.5:p.(Ser570Leu)	NC_000002.11:g.3469399C>T	(Likely) benign	1 lab	7cea52a4f1
10:129902647 MKI67 A>G	10	129902647	129902647	A	G	MKI67	c.7457T>C	NM_002417.5	NP_002408.3:p.(Leu2486Pro)	NC_000010.10:g.129902647A>G	(Likely) benign	1 lab	7ceb6807dc
1:2435451 PLCH2 C>T	1	2435451	2435451	C	T	PLCH2	c.3050C>T	NM_014638.4	NP_055453.2:p.(Pro1017Leu)	NC_000001.10:g.2435451C>T	(Likely) benign	1 lab	7cec1ebe01
4:111539565 PITX2 A>T	4	111539565	111539565	A	T	PITX2	c.691T>A	NM_000325.6	NP_000316.2:p.(Ser231Thr)	NC_000004.11:g.111539565A>T	VUS	1 lab	7cec221fa9
1:218610716 TGFB2 C>T	1	218610716	218610716	C	T	TGFB2	c.964C>T	NM_003238.6	NP_003229.1:p.(Leu322Phe)	NC_000001.10:g.218610716C>T	VUS	1 lab	7ced5d3118
7:5941280 CCZ1 G>A	7	5941280	5941280	G	A	CCZ1	c.391-8G>A	NM_015622.6	NP_056437.4:p.?	NC_000007.13:g.5941280G>A	(Likely) benign	1 lab	7ced5e9f87
2:135926111 RAB3GAP1 C>T	2	135926111	135926111	C	T	RAB3GAP1	c.2710-4C>T	NM_012233.3	NP_036365.1:p.?	NC_000002.11:g.135926111C>T	(Likely) benign	1 lab	7ced81ec25
11:108114680 ATM A>ATTTT	11	108114680	108114681	A	ATTTT	ATM	c.497_498insTTTT	NM_000051.4	NP_000042.3:p.(Glu166AspfsTer20)	NC_000011.9:g.108114680_108114681insTTTT	(Likely) benign	1 lab	7ced86d38d
2:220353584 SPEG G>A	2	220353584	220353584	G	A	SPEG	c.8111G>A	NM_005876.5	NP_005867.3:p.(Arg2704Gln)	NC_000002.11:g.220353584G>A	(Likely) benign	1 lab	7cee3239f2
9:134501533 RAPGEF1 A>G	9	134501533	134501533	A	G	RAPGEF1	c.1478T>C	NM_001377935.1	NP_001364864.1:p.(Val493Ala)	NC_000009.11:g.134501533A>G	VUS	1 lab	7cee3e1a73
17:10536985 MYH3 T>C	17	10536985	10536985	T	C	MYH3	c.4570A>G	NM_002470.4	NP_002461.2:p.(Ile1524Val)	NC_000017.10:g.10536985T>C	VUS	1 lab	7cef08cabe
12:121434371 HNF1A C>T	12	121434371	121434371	C	T	HNF1A	c.1135C>T	NM_000545.8	NP_000536.6:p.(Pro379Ser)	NC_000012.11:g.121434371C>T	(Likely) pathogenic	1 lab	7cf14a4ab7
1:7792599 CAMTA1 G>A	1	7792599	7792599	G	A	CAMTA1	c.3006G>A	NM_015215.4	NP_056030.1:p.(Ala1002=)	NC_000001.10:g.7792599G>A	(Likely) benign	1 lab	7cf2f8b94b
3:48474581 CCDC51 A>C	3	48474581	48474581	A	C	CCDC51	c.478-5T>G	NM_001256964.2	NP_001243893.1:p.?	NC_000003.11:g.48474581A>C	VUS	1 lab	7cf42a5a73
14:21876549 CHD8 C>T	14	21876549	21876549	C	T	CHD8	c.2652G>A	NM_001170629.2	NP_001164100.1:p.(Met884Ile)	NC_000014.8:g.21876549C>T	(Likely) benign	1 lab	7cf53fc486
7:151945256 KMT2C G>A	7	151945256	151945256	G	A	KMT2C	c.2263C>T	NM_170606.3	NP_733751.2:p.(Gln755Ter)	NC_000007.13:g.151945256G>A	(Likely) benign	1 lab	7cf6667945
10:112338377 SMC3 T>C	10	112338377	112338377	T	C	SMC3	c.351-9T>C	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112338377T>C	(Likely) benign	1 lab	7cf7f7b1c9
13:25486085 CPAP TG>T	13	25486085	25486087	TG	T	CPAP	c.566del	NM_018451.5	NP_060921.3:p.(Pro189GlnfsTer3)	NC_000013.10:g.25486087del	(Likely) pathogenic	1 lab	7cf854cde8
1:41978638 HIVEP3 G>A	1	41978638	41978638	G	A	HIVEP3	c.6254C>T	NM_024503.5	NP_078779.2:p.(Pro2085Leu)	NC_000001.10:g.41978638G>A	(Likely) benign	1 lab	7cf97fe64f
2:179419232 TTN A>C	2	179419232	179419232	A	C	TTN	c.62022T>G	NM_133432.3	NP_597676.3:p.(Tyr20674Ter)	NC_000002.11:g.179419232A>C	(Likely) pathogenic	1 lab	2542d80cdc
4:6279362 WFS1 C>T	4	6279362	6279362	C	T	WFS1	c.180C>T	NM_006005.3	NP_005996.2:p.(Pro60=)	NC_000004.11:g.6279362C>T	(Likely) benign	1 lab	7cfcf4665d
X:131212571 FRMD7 G>A	X	131212571	131212571	G	A	FRMD7	c.1474C>T	NM_194277.3	NP_919253.1:p.(Pro492Ser)	NC_000023.10:g.131212571G>A	(Likely) benign	1 lab	7cfd7cb91c
16:683035 WFIKKN1 G>A	16	683035	683035	G	A	WFIKKN1	c.625G>A	NM_053284.3	NP_444514.1:p.(Val209Ile)	NC_000016.9:g.683035G>A	(Likely) benign	1 lab	7cfded3c26
18:19762766 GATA6 C>T	18	19762766	19762766	C	T	GATA6	c.1477C>T	NM_005257.6	NP_005248.2:p.(Arg493Ter)	NC_000018.9:g.19762766C>T	(Likely) pathogenic	1 lab	7cfe442b2f
6:75887541 COL12A1 G>A	6	75887541	75887541	G	A	COL12A1	c.2275C>T	NM_004370.6	NP_004361.3:p.(Pro759Ser)	NC_000006.11:g.75887541G>A	VUS	1 lab	7cff734bc1
11:130298117 ADAMTS8 GGCAGCA>G	11	130298117	130298142	GGCAGCA	G	ADAMTS8	c.59_64del	NM_007037.6	NP_008968.4:p.(Leu20_Leu21del)	NC_000011.9:g.130298137_130298142del	VUS	1 lab	7d0093c4d9
9:71628286 PRKACG G>A	9	71628286	71628286	G	A	PRKACG	c.723C>T	NM_002732.4	NP_002723.2:p.(Ala241=)	NC_000009.11:g.71628286G>A	(Likely) benign	1 lab	7d0126e30b
X:152994833 ABCD1 C>A	X	152994833	152994833	C	A	ABCD1	c.1047C>A	NM_000033.4	NP_000024.2:p.(Val349=)	NC_000023.10:g.152994833C>A	(Likely) benign	1 lab	7d0180ba12
5:112176196 APC G>A	5	112176196	112176196	G	A	APC	c.4905G>A	NM_000038.6	NP_000029.2:p.(Gly1635=)	NC_000005.9:g.112176196G>A	(Likely) benign	1 lab	7d0297a6ad
1:12090180 MIIP G>A	1	12090180	12090180	G	A	MIIP	c.941G>A	NM_021933.4	NP_068752.2:p.(Arg314Gln)	NC_000001.10:g.12090180G>A	VUS	1 lab	7d053d1e38
16:86601686 FOXC2 G>A	16	86601686	86601686	G	A	FOXC2	c.745G>A	NM_005251.3	NP_005242.1:p.(Ala249Thr)	NC_000016.9:g.86601686G>A	(Likely) benign	1 lab	7d0643cc8f
16:88786125 PIEZO1 G>A	16	88786125	88786125	G	A	PIEZO1	c.6328C>T	NM_001142864.4	NP_001136336.2:p.(Arg2110Trp)	NC_000016.9:g.88786125G>A	(Likely) pathogenic	1 lab	7d0666f1a1
21:47541476 COL6A2 C>T	21	47541476	47541476	C	T	COL6A2	c.1465C>T	NM_001849.4	NP_001840.3:p.(Arg489Trp)	NC_000021.8:g.47541476C>T	VUS	1 lab	7d07f76cac
13:52976816 THSD1 C>T	13	52976816	52976816	C	T	THSD1	c.-81G>A	NM_018676.4	NP_061146.1:p.?	NC_000013.10:g.52976816C>T	(Likely) benign	1 lab	7d080809e2
6:51777312 PKHD1 G>A	6	51777312	51777312	G	A	PKHD1	c.6184C>T	NM_138694.4	NP_619639.3:p.(Leu2062=)	NC_000006.11:g.51777312G>A	(Likely) benign	1 lab	7d084129e0
19:5694570 LONP1 G>A	19	5694570	5694570	G	A	LONP1	c.2155-7C>T	NM_004793.4	NP_004784.2:p.?	NC_000019.9:g.5694570G>A	(Likely) benign	1 lab	7d0845852d
2:169828479 ABCB11 C>G	2	169828479	169828479	C	G	ABCB11	c.1516G>C	NM_003742.4	NP_003733.2:p.(Val506Leu)	NC_000002.11:g.169828479C>G	VUS	1 lab	7d08f303ec
9:101980983 ALG2 T>C	9	101980983	101980983	T	C	ALG2	c.484A>G	NM_033087.4	NP_149078.1:p.(Ile162Val)	NC_000009.11:g.101980983T>C	(Likely) benign	1 lab	7d09c64afa
1:152281625 FLG T>G	1	152281625	152281625	T	G	FLG	c.5737A>C	NM_002016.2	NP_002007.1:p.(Asn1913His)	NC_000001.10:g.152281625T>G	(Likely) benign	1 lab	7d0aca8ae3
11:108150228 ATM G>A	11	108150228	108150228	G	A	ATM	c.3295G>A	NM_000051.4	NP_000042.3:p.(Asp1099Asn)	NC_000011.9:g.108150228G>A	VUS	1 lab	7d0b30d84d
11:17408960 KCNJ11 C>T	11	17408960	17408960	C	T	KCNJ11	c.679G>A	NM_000525.4	NP_000516.3:p.(Glu227Lys)	NC_000011.9:g.17408960C>T	(Likely) pathogenic	1 lab	7d0e9db9f7
X:117676910 DOCK11 C>T	X	117676910	117676910	C	T	DOCK11	c.241C>T	NM_144658.4	NP_653259.3:p.(Arg81Cys)	NC_000023.10:g.117676910C>T	VUS	1 lab	7d0f609264
X:1407744 CSF2RA C>T	X	1407744	1407744	C	T	CSF2RA	c.436C>T	NM_172245.4	NP_758448.1:p.(Arg146Cys)	NC_000023.10:g.1407744C>T	VUS	1 lab	7d0f74738d
2:152346486 NEB C>T	2	152346486	152346486	C	T	NEB	c.25403G>A	NM_001164508.2	NP_001157980.2:p.(Gly8468Glu)	NC_000002.11:g.152346486C>T	VUS	1 lab	7d0ff54cb5
2:73677945 ALMS1 C>A	2	73677945	73677945	C	A	ALMS1	c.4291C>A	NM_001378454.1	NP_001365383.1:p.(His1431Asn)	NC_000002.11:g.73677945C>A	(Likely) benign	1 lab	7d10123cf5
2:179580382 TTN C>T	2	179580382	179580382	C	T	TTN	c.25759G>A	NM_001267550.2	NP_001254479.2:p.(Glu8587Lys)	NC_000002.11:g.179580382C>T	(Likely) benign	1 lab	7d10f46a93
1:35449371 TMEM35B T>C	1	35449371	35449371	T	C	TMEM35B	c.286A>G	NM_001195156.2	NP_001182085.1:p.(Met96Val)	NC_000001.10:g.35449371T>C	(Likely) benign	1 lab	7d11427ef2
9:14851782 FREM1 T>C	9	14851782	14851782	T	C	FREM1	c.829-177A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14851782T>C	(Likely) benign	1 lab	254351b50b
8:144895850 SCRIB G>C	8	144895850	144895850	G	C	SCRIB	c.403C>G	NM_182706.5	NP_874365.3:p.(Leu135Val)	NC_000008.10:g.144895850G>C	(Likely) benign	1 lab	7d12b52c44
X:34961225 FAM47B A>G	X	34961225	34961225	A	G	FAM47B	c.277A>G	NM_152631.3	NP_689844.2:p.(Arg93Gly)	NC_000023.10:g.34961225A>G	(Likely) benign	1 lab	7d143f1a48
9:135942547 CEL C>T	9	135942547	135942547	C	T	CEL	c.850C>T	NM_001807.6	NP_001798.3:p.(Arg284Ter)	NC_000009.11:g.135942547C>T	VUS	1 lab	7d15cc0ce0
22:38509623 PLA2G6 GACA>G	22	38509623	38509628	GACA	G	PLA2G6	c.2070_2072del	NM_003560.4	NP_003551.2:p.(Val691del)	NC_000022.10:g.38509626_38509628del	(Likely) pathogenic	1 lab	7d167695a3
17:61611448 KCNH6 T>G	17	61611448	61611448	T	G	KCNH6	c.877T>G	NM_001278919.2	NP_001265848.1:p.(Cys293Gly)	NC_000017.10:g.61611448T>G	(Likely) benign	1 lab	7d1712efea
X:125299242 DCAF12L2 C>T	X	125299242	125299242	C	T	DCAF12L2	c.666G>A	NM_001013628.3	NP_001013650.1:p.(Met222Ile)	NC_000023.10:g.125299242C>T	(Likely) benign	1 lab	7d17c651c1
1:27120874 PIGV A>G	1	27120874	27120874	A	G	PIGV	c.349A>G	NM_017837.4	NP_060307.2:p.(Ile117Val)	NC_000001.10:g.27120874A>G	(Likely) benign	1 lab	7d1899a75a
8:144947235 EPPK1 G>A	8	144947235	144947235	G	A	EPPK1	c.187C>T	NM_031308.4	NP_112598.3:p.(Gln63Ter)	NC_000008.10:g.144947235G>A	(Likely) benign	1 lab	7d1905255e
3:4829652 ITPR1 A>G	3	4829652	4829652	A	G	ITPR1	c.6637A>G	NM_001378452.1	NP_001365381.1:p.(Met2213Val)	NC_000003.11:g.4829652A>G	VUS	1 lab	7d1a4c0963
19:5587917 SAFB2 T>TC	19	5587917	5587919	T	TC	SAFB2	c.2599dup	NM_014649.3	NP_055464.1:p.(Asp867GlyfsTer6)	NC_000019.9:g.5587919dup	VUS	1 lab	7d1b4bcd3e
19:38954073 RYR1 C>T	19	38954073	38954073	C	T	RYR1	c.2588C>T	NM_000540.3	NP_000531.2:p.(Pro863Leu)	NC_000019.9:g.38954073C>T	VUS	1 lab	7d1b9c19d2
2:48132732 FBXO11 T>TGCTGGGGCGGCTGCTGCTGGGGCG	2	48132732	48132760	T	TGCTGGGGCGGCTGCTGCTGGGGCG	FBXO11	c.104_127dup	NM_001190274.2	NP_001177203.1:p.(Pro35_Gln42dup)	NC_000002.11:g.48132737_48132760dup	VUS	1 lab	23d119ebbb
10:27024223 PDSS1 G>A	10	27024223	27024223	G	A	PDSS1	c.886G>A	NM_014317.5	NP_055132.2:p.(Gly296Arg)	NC_000010.10:g.27024223G>A	VUS	1 lab	7d21a5407e
14:30047522 PRKD1 G>A	14	30047522	30047522	G	A	PRKD1	c.2479C>T	NM_002742.3	NP_002733.2:p.(Arg827Cys)	NC_000014.8:g.30047522G>A	VUS	1 lab	7e0b76eda5
16:30750063 SRCAP T>C	16	30750063	30750063	T	C	SRCAP	c.8702T>C	NM_006662.3	NP_006653.2:p.(Leu2901Pro)	NC_000016.9:g.30750063T>C	VUS	1 lab	7d24f0c573
20:45717885 EYA2 C>G	20	45717885	45717885	C	G	EYA2	c.669C>G	NM_005244.5	NP_005235.3:p.(Tyr223Ter)	NC_000020.10:g.45717885C>G	VUS	1 lab	7d25264944
14:30132997 PRKD1 T>C	14	30132997	30132997	T	C	PRKD1	c.604A>G	NM_002742.3	NP_002733.2:p.(Arg202Gly)	NC_000014.8:g.30132997T>C	VUS	1 lab	7d275a6508
15:89386695 ACAN C>T	15	89386695	89386695	C	T	ACAN	c.867C>T	NM_001369268.1	NP_001356197.1:p.(Ala289=)	NC_000015.9:g.89386695C>T	(Likely) benign	1 lab	7d280cbad6
X:75649060 MAGEE1 C>A	X	75649060	75649060	C	A	MAGEE1	c.737C>A	NM_020932.3	NP_065983.1:p.(Thr246Asn)	NC_000023.10:g.75649060C>A	(Likely) benign	1 lab	7d286e3b66
8:10468807 RP1L1 G>A	8	10468807	10468807	G	A	RP1L1	c.2801C>T	NM_178857.6	NP_849188.4:p.(Pro934Leu)	NC_000008.10:g.10468807G>A	(Likely) benign	1 lab	7d28df20d5
2:228783580 DAW1 G>A	2	228783580	228783580	G	A	DAW1	c.1050+8G>A	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228783580G>A	(Likely) benign	1 lab	7d2b3e3bd6
22:21348243 LZTR1 A>G	22	21348243	21348243	A	G	LZTR1	c.1384A>G	NM_006767.4	NP_006758.2:p.(Ile462Val)	NC_000022.10:g.21348243A>G	(Likely) benign	1 lab	7d2cb2fd4b
12:110238663 TRPV4 T>G	12	110238663	110238663	T	G	TRPV4	c.713-100A>C	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110238663T>G	(Likely) benign	1 lab	2546ccce70
19:48947106 GRIN2D C>T	19	48947106	48947106	C	T	GRIN2D	c.3923C>T	NM_000836.4	NP_000827.2:p.(Pro1308Leu)	NC_000019.9:g.48947106C>T	(Likely) benign	1 lab	7d2d505d36
1:152285326 FLG T>A	1	152285326	152285326	T	A	FLG	c.2036A>T	NM_002016.2	NP_002007.1:p.(Lys679Ile)	NC_000001.10:g.152285326T>A	(Likely) benign	1 lab	7d2e363de3
11:65144012 SLC25A45 A>G	11	65144012	65144012	A	G	SLC25A45	c.733T>C	NM_182556.4	NP_872362.4:p.(Cys245Arg)	NC_000011.9:g.65144012A>G	VUS	1 lab	7d2e93743c
9:137710688 COL5A1 T>A	9	137710688	137710688	T	A	COL5A1	c.4339-6T>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710688T>A	(Likely) benign	1 lab	7d2f1dae06
3:160786656 PPM1L G>A	3	160786656	160786656	G	A	PPM1L	c.794G>A	NM_139245.4	NP_640338.2:p.(Arg265Gln)	NC_000003.11:g.160786656G>A	VUS	1 lab	7d305a4f51
2:196765103 DNAH7 G>A	2	196765103	196765103	G	A	DNAH7	c.4451C>T	NM_018897.3	NP_061720.2:p.(Thr1484Met)	NC_000002.11:g.196765103G>A	VUS	1 lab	7d3121aa80
17:59533894 TBX4 C>T	17	59533894	59533894	C	T	TBX4	c.43C>T	NM_001321120.2	NP_001308049.1:p.(Arg15Trp)	NC_000017.10:g.59533894C>T	VUS	1 lab	7d318b3abb
2:97542026 FAM178B CA>C	2	97542026	97542027	CA	C	FAM178B	c.2026del	NM_001122646.3	NP_001116118.2:p.(Trp676GlyfsTer21)	NC_000002.11:g.97542027del	VUS	1 lab	7d3234fd95
15:89395257 ACAN G>A	15	89395257	89395257	G	A	ACAN	c.2259G>A	NM_001369268.1	NP_001356197.1:p.(Pro753=)	NC_000015.9:g.89395257G>A	(Likely) benign	1 lab	7d32a03349
8:11615804 GATA4 G>A	8	11615804	11615804	G	A	GATA4	c.1152G>A	NM_001308093.3	NP_001295022.1:p.(Thr384=)	NC_000008.10:g.11615804G>A	(Likely) benign	1 lab	7d32ab9c1e
9:138667190 KCNT1 A>G	9	138667190	138667190	A	G	KCNT1	c.2278A>G	NM_020822.3	NP_065873.2:p.(Ile760Val)	NC_000009.11:g.138667190A>G	VUS	1 lab	7d33445896
15:44865783 SPG11 T>A	15	44865783	44865783	T	A	SPG11	c.6167A>T	NM_025137.4	NP_079413.3:p.(Glu2056Val)	NC_000015.9:g.44865783T>A	VUS	1 lab	7d33dacd2d
21:38850510 DYRK1A A>AG	21	38850510	38850512	A	AG	DYRK1A	c.210dup	NM_001347721.2	NP_001334650.1:p.(Arg71AlafsTer8)	NC_000021.8:g.38850512dup	VUS	1 lab	7d343a8ba7
8:11566226 GATA4 C>G	8	11566226	11566226	C	G	GATA4	c.405C>G	NM_001308093.3	NP_001295022.1:p.(Gly135=)	NC_000008.10:g.11566226C>G	(Likely) benign	1 lab	7d344708ee
X:53964467 PHF8 A>G	X	53964467	53964467	A	G	PHF8	c.*1124T>C	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.53964467A>G	VUS	1 lab	7d34790846
5:42711375 GHR C>A	5	42711375	42711375	C	A	GHR	c.685C>A	NM_000163.5	NP_000154.1:p.(Arg229Ser)	NC_000005.9:g.42711375C>A	VUS	1 lab	7d34d17da4
10:12043816 UPF2 C>G	10	12043816	12043816	C	G	UPF2	c.1513G>C	NM_015542.4	NP_056357.1:p.(Glu505Gln)	NC_000010.10:g.12043816C>G	VUS	1 lab	7d34ee6423
7:151945195 KMT2C T>C	7	151945195	151945195	T	C	KMT2C	c.2324A>G	NM_170606.3	NP_733751.2:p.(Asp775Gly)	NC_000007.13:g.151945195T>C	(Likely) benign	1 lab	7d36eace7f
6:130762193 TMEM200A C>T	6	130762193	130762193	C	T	TMEM200A	c.626C>T	NM_001258277.2	NP_001245206.1:p.(Thr209Met)	NC_000006.11:g.130762193C>T	VUS	1 lab	7d3d4ced09
12:6172130 VWF A>G	12	6172130	6172130	A	G	VWF	c.1523T>C	NM_000552.5	NP_000543.3:p.(Leu508Pro)	NC_000012.11:g.6172130A>G	VUS	1 lab	7d3d6b3150
16:55523655 MMP2 G>A	16	55523655	55523655	G	A	MMP2	c.1099G>A	NM_004530.6	NP_004521.1:p.(Gly367Ser)	NC_000016.9:g.55523655G>A	VUS	1 lab	7d3da04a68
1:147381178 GJA8 G>A	1	147381178	147381178	G	A	GJA8	c.1096G>A	NM_005267.5	NP_005258.2:p.(Val366Met)	NC_000001.10:g.147381178G>A	(Likely) benign	1 lab	7d3e2e5f58
3:133969487 RYK G>GC	3	133969487	133969490	G	GC	RYK	c.9_11=	NM_002958.4	NP_002949.2:p.(Gly3_Ala4=)	NC_000003.11:g.133969490dup	(Likely) benign	1 lab	7d3f59666c
5:6620271 NSUN2 C>T	5	6620271	6620271	C	T	NSUN2	c.763G>A	NM_017755.6	NP_060225.4:p.(Gly255Ser)	NC_000005.9:g.6620271C>T	VUS	1 lab	7d402eaefc
1:43394900 SLC2A1 G>A	1	43394900	43394900	G	A	SLC2A1	c.953C>T	NM_006516.4	NP_006507.2:p.(Thr318Met)	NC_000001.10:g.43394900G>A	(Likely) benign	1 lab	7d4035c9c2
15:93486229 CHD2 A>G	15	93486229	93486229	A	G	CHD2	c.983A>G	NM_001271.4	NP_001262.3:p.(Gln328Arg)	NC_000015.9:g.93486229A>G	VUS	1 lab	7d4067503e
16:71768554 AP1G1 C>T	16	71768554	71768554	C	T	AP1G1	c.2334G>A	NM_001030007.2	NP_001025178.1:p.(Thr778=)	NC_000016.9:g.71768554C>T	(Likely) benign	1 lab	23d2bf7659
5:131728202 SLC22A5 T>G	5	131728202	131728202	T	G	SLC22A5	c.1345T>G	NM_003060.4	NP_003051.1:p.(Tyr449Asp)	NC_000005.9:g.131728202T>G	(Likely) pathogenic	1 lab	7d43a93a78
16:16276713 ABCC6 A>G	16	16276713	16276713	A	G	ABCC6	c.2018T>C	NM_001171.6	NP_001162.5:p.(Leu673Pro)	NC_000016.9:g.16276713A>G	(Likely) pathogenic	1 lab	7d44b6602b
10:79613111 DLG5 CCTG>C	10	79613111	79613123	CCTG	C	DLG5	c.862_864del	NM_004747.4	NP_004738.3:p.(Gln288del)	NC_000010.10:g.79613121_79613123del	VUS	1 lab	7d46627103
14:105715630 BTBD6 G>A	14	105715630	105715630	G	A	BTBD6	c.465+46G>A	NM_001387567.1	NP_001374496.1:p.?	NC_000014.8:g.105715630G>A	VUS	1 lab	7d47b3c63c
9:97369105 FBP1 A>G	9	97369105	97369105	A	G	FBP1	c.697T>C	NM_000507.4	NP_000498.2:p.(Phe233Leu)	NC_000009.11:g.97369105A>G	VUS	1 lab	7d49a2c817
X:140994270 MAGEC1 T>A	X	140994270	140994270	T	A	MAGEC1	c.1080T>A	NM_005462.5	NP_005453.2:p.(Ser360Arg)	NC_000023.10:g.140994270T>A	VUS	1 lab	7d4c1f7337
17:73953620 ACOX1 G>A	17	73953620	73953620	G	A	ACOX1	c.458C>T	NM_004035.7	NP_004026.2:p.(Thr153Ile)	NC_000017.10:g.73953620G>A	VUS	1 lab	7d4e900ec3
5:67590388 PIK3R1 A>G	5	67590388	67590388	A	G	PIK3R1	c.1450A>G	NM_181523.3	NP_852664.1:p.(Ile484Val)	NC_000005.9:g.67590388A>G	VUS	1 lab	7d4f168252
1:20082128 TMCO4 C>T	1	20082128	20082128	C	T	TMCO4	c.514G>A	NM_181719.7	NP_859070.3:p.(Glu172Lys)	NC_000001.10:g.20082128C>T	VUS	1 lab	7d4f391ff3
19:42862302 MEGF8 A>G	19	42862302	42862302	A	G	MEGF8	c.5018A>G	NM_001271938.2	NP_001258867.1:p.(Tyr1673Cys)	NC_000019.9:g.42862302A>G	VUS	1 lab	7d50e24e29
X:153039396 PLXNB3 G>A	X	153039396	153039396	G	A	PLXNB3	c.3362G>A	NM_005393.3	NP_005384.2:p.(Arg1121Gln)	NC_000023.10:g.153039396G>A	VUS	1 lab	7d5110841b
12:49364016 WNT10B T>TGCGCAG	12	49364016	49364024	T	TGCGCAG	WNT10B	c.187_192dup	NM_003394.4	NP_003385.2:p.(Leu63_Arg64dup)	NC_000012.11:g.49364019_49364024dup	VUS	1 lab	7d51eeb6ba
4:1803456 FGFR3 C>T	4	1803456	1803456	C	T	FGFR3	c.725C>T	NM_000142.5	NP_000133.1:p.(Thr242Met)	NC_000004.11:g.1803456C>T	VUS	1 lab	7d52d66681
16:1260048 CACNA1H G>A	16	1260048	1260048	G	A	CACNA1H	c.3758G>A	NM_021098.3	NP_066921.2:p.(Arg1253His)	NC_000016.9:g.1260048G>A	VUS	1 lab	7d54258fda
15:33359893 FMN1 C>T	15	33359893	33359893	C	T	FMN1	c.2044-2618G>A	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33359893C>T	(Likely) benign	1 lab	7d54f35128
12:49233822 DDX23 C>T	12	49233822	49233822	C	T	DDX23	c.388G>A	NM_004818.3	NP_004809.2:p.(Asp130Asn)	NC_000012.11:g.49233822C>T	VUS	1 lab	7d55410077
14:54420119 BMP4 C>T	14	54420119	54420119	C	T	BMP4	c.-132-1G>A	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54420119C>T	VUS	1 lab	7d56f3703c
12:80189464 PPP1R12A G>C	12	80189464	80189464	G	C	PPP1R12A	c.2537C>G	NM_002480.3	NP_002471.1:p.(Pro846Arg)	NC_000012.11:g.80189464G>C	VUS	1 lab	7d576bdc7d
21:27284152 APP C>T	21	27284152	27284152	C	T	APP	c.1810G>A	NM_000484.4	NP_000475.1:p.(Val604Met)	NC_000021.8:g.27284152C>T	VUS	1 lab	7d576cb65c
2:198358919 HSPD1 C>T	2	198358919	198358919	C	T	HSPD1	c.662G>A	NM_002156.5	NP_002147.2:p.(Arg221Gln)	NC_000002.11:g.198358919C>T	(Likely) benign	1 lab	7d5996f3cb
14:23237266 OXA1L C>T	14	23237266	23237266	C	T	OXA1L	c.325C>T	NM_005015.5	NP_005006.4:p.(Gln109Ter)	NC_000014.8:g.23237266C>T	VUS	1 lab	7d5a6480c6
4:77661098 SHROOM3 C>A	4	77661098	77661098	C	A	SHROOM3	c.1772C>A	NM_020859.4	NP_065910.3:p.(Thr591Asn)	NC_000004.11:g.77661098C>A	(Likely) benign	1 lab	7d5b63b472
17:61345142 TANC2 A>G	17	61345142	61345142	A	G	TANC2	c.1067A>G	NM_001394998.1	NP_001381927.1:p.(Tyr356Cys)	NC_000017.10:g.61345142A>G	VUS	1 lab	7d5c2de374
9:35806217 NPR2 C>T	9	35806217	35806217	C	T	NPR2	c.2359C>T	NM_003995.4	NP_003986.2:p.(Arg787Trp)	NC_000009.11:g.35806217C>T	VUS	1 lab	7d5d4da9f0
11:764389 TALDO1 C>T	11	764389	764389	C	T	TALDO1	c.937C>T	NM_006755.2	NP_006746.1:p.(Arg313Cys)	NC_000011.9:g.764389C>T	VUS	1 lab	23d2e00fbd
15:28514429 HERC2 G>A	15	28514429	28514429	G	A	HERC2	c.1411C>T	NM_004667.6	NP_004658.3:p.(Arg471Cys)	NC_000015.9:g.28514429G>A	VUS	1 lab	7d5e8a63dd
21:47851776 PCNT C>T	21	47851776	47851776	C	T	PCNT	c.8398C>T	NM_006031.6	NP_006022.3:p.(Arg2800Trp)	NC_000021.8:g.47851776C>T	(Likely) benign	1 lab	7d6018f85f
11:17483331 ABCC8 G>T	11	17483331	17483331	G	T	ABCC8	c.621C>A	NM_000352.6	NP_000343.2:p.(Pro207=)	NC_000011.9:g.17483331G>T	(Likely) benign	1 lab	7d61d22ba6
5:131528767 P4HA2 T>C	5	131528767	131528767	T	C	P4HA2	c.1538A>G	NM_001017974.2	NP_001017974.1:p.(Asn513Ser)	NC_000005.9:g.131528767T>C	VUS	1 lab	7d62bffbdb
11:298680 IFITM5 C>T	11	298680	298680	C	T	IFITM5	c.220G>A	NM_001025295.3	NP_001020466.1:p.(Ala74Thr)	NC_000011.9:g.298680C>T	VUS	1 lab	7d62f365ec
12:48238692 VDR G>A	12	48238692	48238692	G	A	VDR	c.1121C>T	NM_000376.3	NP_000367.1:p.(Pro374Leu)	NC_000012.11:g.48238692G>A	VUS	1 lab	7d6466e441
15:63097955 TLN2 G>A	15	63097955	63097955	G	A	TLN2	c.6634G>A	NM_015059.3	NP_055874.2:p.(Ala2212Thr)	NC_000015.9:g.63097955G>A	VUS	1 lab	7d648f57e9
16:5125492 ALG1 G>C	16	5125492	5125492	G	C	ALG1	c.494G>C	NM_019109.5	NP_061982.3:p.(Gly165Ala)	NC_000016.9:g.5125492G>C	VUS	1 lab	7d64c67826
1:2337276 PEX10 G>A	1	2337276	2337276	G	A	PEX10	c.913-3C>T	NM_002617.4	NP_002608.1:p.?	NC_000001.10:g.2337276G>A	(Likely) benign	1 lab	7d6509ef25
2:97403682 LMAN2L T>C	2	97403682	97403682	T	C	LMAN2L	c.306+4A>G	NM_030805.4	NP_110432.1:p.?	NC_000002.11:g.97403682T>C	VUS	1 lab	7d652483c9
14:102445810 DYNC1H1 G>A	14	102445810	102445810	G	A	DYNC1H1	c.499G>A	NM_001376.5	NP_001367.2:p.(Glu167Lys)	NC_000014.8:g.102445810G>A	VUS	1 lab	7d66370b4a
6:157099740 ARID1B C>T	6	157099740	157099740	C	T	ARID1B	c.926C>T	NM_001374828.1	NP_001361757.1:p.(Ala309Val)	NC_000006.11:g.157099740C>T	(Likely) benign	1 lab	7d668e43db
17:78247070 RNF213 C>T	17	78247070	78247070	C	T	RNF213	c.128C>T	NM_001256071.3	NP_001243000.2:p.(Ser43Leu)	NC_000017.10:g.78247070C>T	VUS	1 lab	7d66a01fc2
6:157522410 ARID1B G>A	6	157522410	157522410	G	A	ARID1B	c.5051G>A	NM_001374828.1	NP_001361757.1:p.(Arg1684His)	NC_000006.11:g.157522410G>A	(Likely) benign	1 lab	7d66df6705
10:112724817 SHOC2 T>C	10	112724817	112724817	T	C	SHOC2	c.701T>C	NM_007373.4	NP_031399.2:p.(Ile234Thr)	NC_000010.10:g.112724817T>C	VUS	1 lab	7d6720cd77
18:42643219 SETBP1 C>T	18	42643219	42643219	C	T	SETBP1	c.4347C>T	NM_015559.3	NP_056374.2:p.(Phe1449=)	NC_000018.9:g.42643219C>T	VUS	1 lab	7d6730df3a
1:17349221 SDHB T>C	1	17349221	17349221	T	C	SDHB	c.647A>G	NM_003000.3	NP_002991.2:p.(Tyr216Cys)	NC_000001.10:g.17349221T>C	VUS	1 lab	7d67418746
4:88996830 PKD2 C>G	4	88996830	88996830	C	G	PKD2	c.2891C>G	NM_000297.4	NP_000288.1:p.(Ser964Cys)	NC_000004.11:g.88996830C>G	(Likely) benign	1 lab	7d688e66c2
15:102301414 MISSING C>G	15	102301414	102301414	C	G	MISSING				NC_000015.9:g.102301414C>G	(Likely) benign	1 lab	7d68a4c89c
5:140579929 PCDHB11 A>C	5	140579929	140579929	A	C	PCDHB11	c.582A>C	NM_018931.3	NP_061754.1:p.(Leu194Phe)	NC_000005.9:g.140579929A>C	(Likely) benign	1 lab	7d68f223bb
3:136139931 STAG1 G>A	3	136139931	136139931	G	A	STAG1	c.2108+4C>T	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136139931G>A	(Likely) benign	1 lab	7d69efde16
13:77825358 MYCBP2 G>A	13	77825358	77825358	G	A	MYCBP2	c.2309C>T	NM_015057.5	NP_055872.4:p.(Thr770Ile)	NC_000013.10:g.77825358G>A	VUS	1 lab	7d6c14d027
16:2230805 CASKIN1 G>A	16	2230805	2230805	G	A	CASKIN1	c.2564C>T	NM_020764.4	NP_065815.1:p.(Pro855Leu)	NC_000016.9:g.2230805G>A	(Likely) benign	1 lab	7d6dfbcf36
2:170055404 LRP2 A>G	2	170055404	170055404	A	G	LRP2	c.8470T>C	NM_004525.3	NP_004516.2:p.(Ser2824Pro)	NC_000002.11:g.170055404A>G	VUS	1 lab	7d6eb27aed
8:126095505 WASHC5 G>GA	8	126095505	126095514	G	GA	WASHC5	c.187-6dup	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126095514dup	(Likely) benign	1 lab	7d6f64d66d
11:47603943 NDUFS3 C>G	11	47603943	47603943	C	G	NDUFS3	c.550C>G	NM_004551.3	NP_004542.1:p.(Leu184Val)	NC_000011.9:g.47603943C>G	(Likely) benign	1 lab	7d6f9685c8
7:150778647 TMUB1 A>G	7	150778647	150778647	A	G	TMUB1	c.730T>C	NM_001136044.2	NP_001129516.1:p.(Tyr244His)	NC_000007.13:g.150778647A>G	(Likely) benign	1 lab	7d72c4cb44
2:33246234 LTBP1 C>T	2	33246234	33246234	C	T	LTBP1	c.824C>T	NM_206943.4	NP_996826.3:p.(Pro275Leu)	NC_000002.11:g.33246234C>T	(Likely) benign	1 lab	7d72eee252
14:31592179 HECTD1 C>T	14	31592179	31592179	C	T	HECTD1	c.5056G>A	NM_015382.4	NP_056197.3:p.(Glu1686Lys)	NC_000014.8:g.31592179C>T	VUS	1 lab	23d6314a23
3:178936062 PIK3CA C>T	3	178936062	178936062	C	T	PIK3CA	c.1604C>T	NM_006218.4	NP_006209.2:p.(Ser535Phe)	NC_000003.11:g.178936062C>T	(Likely) benign	1 lab	7d757d41fe
16:70517785 COG4 C>T	16	70517785	70517785	C	T	COG4	c.1798G>A	NM_015386.3	NP_056201.2:p.(Val600Met)	NC_000016.9:g.70517785C>T	(Likely) benign	1 lab	7d7620f0a1
1:110091380 GNAI3 T>C	1	110091380	110091380	T	C	GNAI3	c.38T>C	NM_006496.4	NP_006487.1:p.(Val13Ala)	NC_000001.10:g.110091380T>C	VUS	1 lab	7d77f8f3ff
5:145719891 POU4F3 T>A	5	145719891	145719891	T	A	POU4F3	c.901T>A	NM_002700.3	NP_002691.1:p.(Ser301Thr)	NC_000005.9:g.145719891T>A	VUS	1 lab	7d78249202
16:2223295 TRAF7 G>A	16	2223295	2223295	G	A	TRAF7	c.907G>A	NM_032271.3	NP_115647.2:p.(Val303Met)	NC_000016.9:g.2223295G>A	(Likely) benign	1 lab	7d78428aa2
11:95527680 CEP57 G>A	11	95527680	95527680	G	A	CEP57	c.45+3773G>A	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95527680G>A	VUS	1 lab	7d78ac5404
19:51165859 SHANK1 G>A	19	51165859	51165859	G	A	SHANK1	c.5849C>T	NM_016148.5	NP_057232.2:p.(Pro1950Leu)	NC_000019.9:g.51165859G>A	(Likely) benign	1 lab	7d79458f89
22:50987042 KLHDC7B C>T	22	50987042	50987042	C	T	KLHDC7B	c.2370C>T	NM_138433.5	NP_612442.3:p.(Ala790=)	NC_000022.10:g.50987042C>T	(Likely) benign	1 lab	7d79d24964
X:54209484 FAM120C C>T	X	54209484	54209484	C	T	FAM120C	c.148G>A	NM_017848.6	NP_060318.4:p.(Ala50Thr)	NC_000023.10:g.54209484C>T	VUS	1 lab	7d7a09cfc0
8:61766030 CHD7 A>G	8	61766030	61766030	A	G	CHD7	c.6746A>G	NM_017780.4	NP_060250.2:p.(Asp2249Gly)	NC_000008.10:g.61766030A>G	VUS	1 lab	7d7b14cbe9
19:3192653 NCLN G>A	19	3192653	3192653	G	A	NCLN	c.370G>A	NM_020170.4	NP_064555.2:p.(Val124Ile)	NC_000019.9:g.3192653G>A	(Likely) benign	1 lab	7d7c5cbd40
22:45218281 ARHGAP8 C>G	22	45218281	45218281	C	G	ARHGAP8	c.417C>G	NM_181335.3	NP_851852.2:p.(Phe139Leu)	NC_000022.10:g.45218281C>G	VUS	1 lab	7d7d0c8497
12:6439874 TNFRSF1A G>A	12	6439874	6439874	G	A	TNFRSF1A	c.629C>T	NM_001065.4	NP_001056.1:p.(Thr210Ile)	NC_000012.11:g.6439874G>A	(Likely) benign	1 lab	7d7d3acb9b
4:6302888 WFS1 C>T	4	6302888	6302888	C	T	WFS1	c.1366C>T	NM_006005.3	NP_005996.2:p.(Arg456Cys)	NC_000004.11:g.6302888C>T	VUS	1 lab	7d7d6a575a
11:103024029 DYNC2H1 T>C	11	103024029	103024029	T	C	DYNC2H1	c.3097-3T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103024029T>C	(Likely) benign	1 lab	7d7f22354b
16:227339 HBA1 C>T	16	227339	227339	C	T	HBA1	c.358C>T	NM_000558.5	NP_000549.1:p.(Pro120Ser)	NC_000016.9:g.227339C>T	(Likely) pathogenic	1 lab	7d808712f7
8:144895116 SCRIB G>A	8	144895116	144895116	G	A	SCRIB	c.658C>T	NM_182706.5	NP_874365.3:p.(Arg220Trp)	NC_000008.10:g.144895116G>A	VUS	1 lab	7d811189bb
8:144995013 PLEC G>A	8	144995013	144995013	G	A	PLEC	c.8976C>T	NM_201384.3	NP_958786.1:p.(Ile2992=)	NC_000008.10:g.144995013G>A	(Likely) benign	1 lab	7d840986e2
9:137007451 WDR5 A>T	9	137007451	137007451	A	T	WDR5	c.355-4A>T	NM_017588.3	NP_060058.1:p.?	NC_000009.11:g.137007451A>T	(Likely) benign	1 lab	7d845b8584
17:59544965 TBX4 G>A	17	59544965	59544965	G	A	TBX4	c.496G>A	NM_001321120.2	NP_001308049.1:p.(Val166Ile)	NC_000017.10:g.59544965G>A	VUS	1 lab	7d854e2911
X:51486790 GSPT2 C>T	X	51486790	51486790	C	T	GSPT2	c.68C>T	NM_018094.5	NP_060564.2:p.(Pro23Leu)	NC_000023.10:g.51486790C>T	(Likely) benign	1 lab	7d856daf9f
1:23240245 EPHB2 GA>G	1	23240245	23240254	GA	G	EPHB2	c.*191del	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23240254del	(Likely) benign	1 lab	7d85bfc613
X:17743839 NHS A>C	X	17743839	17743839	A	C	NHS	c.1613A>C	NM_001291867.2	NP_001278796.1:p.(His538Pro)	NC_000023.10:g.17743839A>C	VUS	1 lab	7d88c9ce6c
22:51117861 SHANK3 G>GCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA	22	51117861	51117862	G	GCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA	SHANK3	c.1110+5_1110+6insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117861_51117862insCATTTAAAGGAAATAATGTATACAGTGGTCCATTTCCAAA	(Likely) benign	1 lab	7d89da51f4
5:158747467 IL12B C>T	5	158747467	158747467	C	T	IL12B	c.544G>A	NM_002187.2	NP_002178.2:p.(Gly182Arg)	NC_000005.9:g.158747467C>T	(Likely) benign	1 lab	254d3cbfc8
16:847846 CHTF18 G>A	16	847846	847846	G	A	CHTF18	c.2799G>A	NM_022092.3	NP_071375.1:p.(Thr933=)	NC_000016.9:g.847846G>A	VUS	1 lab	7d8bfad928
8:126088714 WASHC5 C>T	8	126088714	126088714	C	T	WASHC5	c.740G>A	NM_014846.4	NP_055661.3:p.(Arg247His)	NC_000008.10:g.126088714C>T	VUS	1 lab	7d8bfc3dbb
2:152435968 NEB C>A	2	152435968	152435968	C	A	NEB	c.16588G>T	NM_001164508.2	NP_001157980.2:p.(Glu5530Ter)	NC_000002.11:g.152435968C>A	VUS	1 lab	7d8e7b7c61
20:43058191 HNF4A G>A	20	43058191	43058191	G	A	HNF4A	c.1311G>A	NM_000457.5	NP_000448.3:p.(Pro437=)	NC_000020.10:g.43058191G>A	(Likely) benign	1 lab	7d91ddf3d1
20:62059778 KCNQ2 G>T	20	62059778	62059778	G	T	KCNQ2	c.1159C>A	NM_172107.4	NP_742105.1:p.(Pro387Thr)	NC_000020.10:g.62059778G>T	(Likely) benign	1 lab	7d92ff2cdb
X:153589839 FLNA G>A	X	153589839	153589839	G	A	FLNA	c.3044C>T	NM_001110556.2	NP_001104026.1:p.(Ala1015Val)	NC_000023.10:g.153589839G>A	VUS	1 lab	7d9495c5a1
13:111287888 NAXD C>T	13	111287888	111287888	C	T	NAXD	c.671C>T	NM_001242882.2	NP_001229811.1:p.(Thr224Met)	NC_000013.10:g.111287888C>T	VUS	1 lab	7d950f5a2c
19:50119308 PRR12 G>T	19	50119308	50119308	G	T	PRR12	c.5329G>T	NM_020719.3	NP_065770.1:p.(Ala1777Ser)	NC_000019.9:g.50119308G>T	(Likely) benign	1 lab	7d965782fa
2:9525392 ASAP2 G>T	2	9525392	9525392	G	T	ASAP2	c.2035G>T	NM_003887.3	NP_003878.1:p.(Gly679Ter)	NC_000002.11:g.9525392G>T	VUS	1 lab	7d970f68a7
6:69349291 ADGRB3 C>T	6	69349291	69349291	C	T	ADGRB3	c.724C>T	NM_001704.3	NP_001695.2:p.(Leu242Phe)	NC_000006.11:g.69349291C>T	VUS	1 lab	7d97d9f25b
17:76487518 DNAH17 C>T	17	76487518	76487518	C	T	DNAH17	c.6669+7G>A	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76487518C>T	(Likely) benign	1 lab	7d985f4a5e
20:42264653 IFT52 G>A	20	42264653	42264653	G	A	IFT52	c.1011G>A	NM_016004.5	NP_057088.2:p.(Ala337=)	NC_000020.10:g.42264653G>A	(Likely) benign	1 lab	7d9910af1a
9:101980715 ALG2 C>T	9	101980715	101980715	C	T	ALG2	c.752G>A	NM_033087.4	NP_149078.1:p.(Arg251His)	NC_000009.11:g.101980715C>T	VUS	1 lab	7d9a451c92
19:39083952 MAP4K1 G>T	19	39083952	39083952	G	T	MAP4K1	c.2366C>A	NM_001042600.3	NP_001036065.1:p.(Thr789Asn)	NC_000019.9:g.39083952G>T	VUS	1 lab	7d9c4a89a5
19:5691536 RPL36 C>T	19	5691536	5691536	C	T	RPL36	c.229-7C>T	NM_033643.3	NP_378669.1:p.?	NC_000019.9:g.5691536C>T	VUS	1 lab	7d9c92bc89
9:135739089 AK8 G>A	9	135739089	135739089	G	A	AK8	c.296C>T	NM_152572.3	NP_689785.1:p.(Thr99Met)	NC_000009.11:g.135739089G>A	(Likely) benign	1 lab	7da08a3c9e
19:643250 FGF22 G>A	19	643250	643250	G	A	FGF22	c.230G>A	NM_020637.2	NP_065688.1:p.(Arg77His)	NC_000019.9:g.643250G>A	(Likely) benign	1 lab	7da117eed1
5:127873038 FBN2 C>G	5	127873038	127873038	C	G	FBN2	c.254+5G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127873038C>G	(Likely) benign	1 lab	7da220f820
9:126129888 CRB2 C>T	9	126129888	126129888	C	T	CRB2	c.977C>T	NM_173689.7	NP_775960.4:p.(Ser326Leu)	NC_000009.11:g.126129888C>T	VUS	1 lab	7da8eaa2fa
12:116446321 MED13L A>C	12	116446321	116446321	A	C	MED13L	c.1897T>G	NM_015335.5	NP_056150.1:p.(Trp633Gly)	NC_000012.11:g.116446321A>C	(Likely) benign	1 lab	7da9ac2dc7
X:18915274 PHKA2 G>T	X	18915274	18915274	G	T	PHKA2	c.3282+7C>A	NM_000292.3	NP_000283.1:p.?	NC_000023.10:g.18915274G>T	(Likely) benign	1 lab	7da9b7dac7
7:42088128 GLI3 G>A	7	42088128	42088128	G	A	GLI3	c.641C>T	NM_000168.6	NP_000159.3:p.(Ser214Phe)	NC_000007.13:g.42088128G>A	VUS	1 lab	7dab2fa98b
6:138727166 HEBP2 T>G	6	138727166	138727166	T	G	HEBP2	c.297T>G	NM_014320.3	NP_055135.1:p.(Pro99=)	NC_000006.11:g.138727166T>G	VUS	1 lab	7dabd0951a
15:89416233 ACAN C>T	15	89416233	89416233	C	T	ACAN	c.7424C>T	NM_001369268.1	NP_001356197.1:p.(Pro2475Leu)	NC_000015.9:g.89416233C>T	VUS	1 lab	7dabe36ae9
15:91298024 BLM A>AT	15	91298024	91298032	A	AT	BLM	c.960-9dup	NM_000057.4	NP_000048.1:p.?	NC_000015.9:g.91298032dup	(Likely) benign	1 lab	7dacd2ca5e
17:26653641 TMEM97 TTC>T	17	26653641	26653644	TTC	T	TMEM97	c.355_356del	NM_014573.3	NP_055388.2:p.(Leu119ValfsTer2)	NC_000017.10:g.26653643_26653644del	VUS	1 lab	7dae5947d8
19:3637452 PIP5K1C C>G	19	3637452	3637452	C	G	PIP5K1C	c.1920+1430G>C	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3637452C>G	(Likely) benign	1 lab	7daf1b516e
20:3209357 SLC4A11 C>T	20	3209357	3209357	C	T	SLC4A11	c.2193-4G>A	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3209357C>T	(Likely) benign	1 lab	7db0468794
19:18899265 COMP C>A	19	18899265	18899265	C	A	COMP	c.821G>T	NM_000095.3	NP_000086.2:p.(Gly274Val)	NC_000019.9:g.18899265C>A	VUS	1 lab	7db0a2ec2a
2:209104602 IDH1 A>G	2	209104602	209104602	A	G	IDH1	c.976T>C	NM_005896.4	NP_005887.2:p.(Ser326Pro)	NC_000002.11:g.209104602A>G	VUS	1 lab	7db1915a3d
9:79441650 PRUNE2 T>C	9	79441650	79441650	T	C	PRUNE2	c.509-2A>G	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79441650T>C	(Likely) benign	1 lab	7db2dee60b
17:15952159 NCOR1 C>T	17	15952159	15952159	C	T	NCOR1	c.6536G>A	NM_006311.4	NP_006302.2:p.(Arg2179Lys)	NC_000017.10:g.15952159C>T	(Likely) benign	1 lab	7db39b93e7
10:28229721 ODAD2 T>C	10	28229721	28229721	T	C	ODAD2	c.1757A>G	NM_018076.5	NP_060546.2:p.(Asp586Gly)	NC_000010.10:g.28229721T>C	VUS	1 lab	7db3a90839
9:101785684 COL15A1 G>A	9	101785684	101785684	G	A	COL15A1	c.1807G>A	NM_001855.5	NP_001846.3:p.(Val603Ile)	NC_000009.11:g.101785684G>A	VUS	1 lab	7db50657a6
X:41200819 DDX3X A>T	X	41200819	41200819	A	T	DDX3X	c.234A>T	NM_001356.5	NP_001347.3:p.(Ser78=)	NC_000023.10:g.41200819A>T	(Likely) benign	1 lab	7db5907851
6:116442132 COL10A1 C>T	6	116442132	116442132	C	T	COL10A1	c.1147G>A	NM_000493.4	NP_000484.2:p.(Gly383Arg)	NC_000006.11:g.116442132C>T	VUS	1 lab	7db5c010cb
3:24164384 THRB G>A	3	24164384	24164384	G	A	THRB	c.1377C>T	NM_001354712.2	NP_001341641.1:p.(Phe459=)	NC_000003.11:g.24164384G>A	VUS	1 lab	7db70cdce7
9:140129151 SLC34A3 AG>A	9	140129151	140129152	AG	A	SLC34A3	c.1304del	NM_001177316.2	NP_001170787.2:p.(Ser435ThrfsTer46)	NC_000009.11:g.140129152del	(Likely) pathogenic	1 lab	7db77d96f2
2:131673580 ARHGEF4 T>A	2	131673580	131673580	T	A	ARHGEF4	c.2061T>A	NM_001367493.1	NP_001354422.1:p.(Asn687Lys)	NC_000002.11:g.131673580T>A	VUS	1 lab	7db8e20531
10:79799959 RPS24 C>A	10	79799959	79799959	C	A	RPS24	c.391-3C>A	NM_033022.4	NP_148982.1:p.?	NC_000010.10:g.79799959C>A	(Likely) benign	1 lab	7db923431d
19:7267542 INSR C>T	19	7267542	7267542	C	T	INSR	c.466G>A	NM_000208.4	NP_000199.2:p.(Ala156Thr)	NC_000019.9:g.7267542C>T	(Likely) pathogenic	1 lab	7dba071362
15:89389068 ACAN G>T	15	89389068	89389068	G	T	ACAN	c.1384G>T	NM_001369268.1	NP_001356197.1:p.(Val462Phe)	NC_000015.9:g.89389068G>T	(Likely) benign	1 lab	7dbaa93a90
5:177420033 PROP1 G>A	5	177420033	177420033	G	A	PROP1	c.358C>T	NM_006261.5	NP_006252.4:p.(Arg120Cys)	NC_000005.9:g.177420033G>A	(Likely) pathogenic	1 lab	7dbd25c08d
X:128895150 XPNPEP2 C>T	X	128895150	128895150	C	T	XPNPEP2	c.1501C>T	NM_003399.6	NP_003390.4:p.(Arg501Ter)	NC_000023.10:g.128895150C>T	(Likely) benign	1 lab	7dbf8605b4
17:78357600 RNF213 A>G	17	78357600	78357600	A	G	RNF213	c.14194A>G	NM_001256071.3	NP_001243000.2:p.(Lys4732Glu)	NC_000017.10:g.78357600A>G	(Likely) benign	1 lab	7dc111a7c8
11:47463172 RAPSN C>T	11	47463172	47463172	C	T	RAPSN	c.903G>A	NM_005055.5	NP_005046.2:p.(Ala301=)	NC_000011.9:g.47463172C>T	(Likely) benign	1 lab	7dc8f1f6f5
2:179417123 TTN A>G	2	179417123	179417123	A	G	TTN	c.90504T>C	NM_001267550.2	NP_001254479.2:p.(Asp30168=)	NC_000002.11:g.179417123A>G	VUS	1 lab	7dca5e6a63
15:90174755 KIF7 G>T	15	90174755	90174755	G	T	KIF7	c.3082C>A	NM_198525.3	NP_940927.2:p.(Leu1028Met)	NC_000015.9:g.90174755G>T	VUS	1 lab	7dcaf4faec
7:71743692 CALN1 T>C	7	71743692	71743692	T	C	CALN1	c.223A>G	NM_031468.4	NP_113656.2:p.(Ile75Val)	NC_000007.13:g.71743692T>C	VUS	1 lab	7e1b6faca2
15:75676700 SIN3A C>T	15	75676700	75676700	C	T	SIN3A	c.3100G>A	NM_001145358.2	NP_001138830.1:p.(Gly1034Arg)	NC_000015.9:g.75676700C>T	(Likely) benign	1 lab	7dcb62aa90
8:126061301 WASHC5 G>A	8	126061301	126061301	G	A	WASHC5	c.2326C>T	NM_014846.4	NP_055661.3:p.(Arg776Cys)	NC_000008.10:g.126061301G>A	VUS	1 lab	7dcfbea6e2
8:124089460 TBC1D31 C>G	8	124089460	124089460	C	G	TBC1D31	c.187C>G	NM_145647.4	NP_663622.2:p.(Gln63Glu)	NC_000008.10:g.124089460C>G	VUS	1 lab	7dd0301595
1:240371179 FMN2 C>A	1	240371179	240371179	C	A	FMN2	c.3067C>A	NM_020066.5	NP_064450.3:p.(Pro1023Thr)	NC_000001.10:g.240371179C>A	VUS	1 lab	7dd2a55225
X:31284908 DMD G>A	X	31284908	31284908	G	A	DMD	c.9225-5775C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31284908G>A	VUS	1 lab	7dd3e3cef7
X:106205335 MORC4 G>A	X	106205335	106205335	G	A	MORC4	c.1163C>T	NM_024657.5	NP_078933.3:p.(Thr388Ile)	NC_000023.10:g.106205335G>A	VUS	1 lab	7dd6a189ae
17:34431375 CCL4 G>A	17	34431375	34431375	G	A	CCL4	c.76+1G>A	NM_002984.4	NP_002975.1:p.?	NC_000017.10:g.34431375G>A	VUS	1 lab	7dd6d841a6
X:153660696 ATP6AP1 G>A	X	153660696	153660696	G	A	ATP6AP1	c.448G>A	NM_001183.6	NP_001174.2:p.(Glu150Lys)	NC_000023.10:g.153660696G>A	(Likely) benign	1 lab	7dd6fb9477
2:186666727 FSIP2 C>T	2	186666727	186666727	C	T	FSIP2	c.12694C>T	NM_173651.4	NP_775922.3:p.(Gln4232Ter)	NC_000002.11:g.186666727C>T	VUS	1 lab	7dda9ffd3b
8:145749976 LRRC24 G>T	8	145749976	145749976	G	T	LRRC24	c.287C>A	NM_001024678.4	NP_001019849.2:p.(Ala96Glu)	NC_000008.10:g.145749976G>T	VUS	1 lab	7ddd61be2b
22:36700081 MYH9 T>C	22	36700081	36700081	T	C	MYH9	c.2350A>G	NM_002473.6	NP_002464.1:p.(Ile784Val)	NC_000022.10:g.36700081T>C	VUS	1 lab	7ddf353481
15:82450159 EFL1 T>C	15	82450159	82450159	T	C	EFL1	c.1925A>G	NM_024580.6	NP_078856.4:p.(Gln642Arg)	NC_000015.9:g.82450159T>C	VUS	1 lab	7de0cfd06e
X:54956564 TRO G>T	X	54956564	54956564	G	T	TRO	c.3407G>T	NM_001039705.3	NP_001034794.1:p.(Ser1136Ile)	NC_000023.10:g.54956564G>T	VUS	1 lab	7de1794344
10:35928427 FZD8 GGC>G	10	35928427	35928429	GGC	G	FZD8	c.1929_1930del	NM_031866.3	NP_114072.1:p.(Pro644GlyfsTer76)	NC_000010.10:g.35928428_35928429del	VUS	1 lab	7de1874103
17:11568214 DNAH9 T>C	17	11568214	11568214	T	C	DNAH9	c.2660T>C	NM_001372.4	NP_001363.2:p.(Ile887Thr)	NC_000017.10:g.11568214T>C	VUS	1 lab	7de212e06a
2:20113335 WDR35 T>C	2	20113335	20113335	T	C	WDR35	c.3497A>G	NM_020779.4	NP_065830.2:p.(His1166Arg)	NC_000002.11:g.20113335T>C	(Likely) pathogenic	1 lab	7de32b4f33
1:103405984 COL11A1 T>G	1	103405984	103405984	T	G	COL11A1	c.3283A>C	NM_001854.4	NP_001845.3:p.(Lys1095Gln)	NC_000001.10:g.103405984T>G	VUS	1 lab	7de48356e8
12:113617765 DDX54 T>A	12	113617765	113617765	T	A	DDX54	c.350A>T	NM_024072.4	NP_076977.3:p.(Lys117Met)	NC_000012.11:g.113617765T>A	VUS	1 lab	7de4fba6da
2:152551152 NEB A>C	2	152551152	152551152	A	C	NEB	c.1675-9T>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152551152A>C	(Likely) benign	1 lab	7de56e04ed
8:106456594 ZFPM2 G>T	8	106456594	106456594	G	T	ZFPM2	c.286G>T	NM_012082.4	NP_036214.2:p.(Asp96Tyr)	NC_000008.10:g.106456594G>T	(Likely) benign	1 lab	7de5caf661
12:31256538 DDX11 T>G	12	31256538	31256538	T	G	DDX11	c.2564T>G	NM_030653.4	NP_085911.2:p.(Phe855Cys)	NC_000012.11:g.31256538T>G	VUS	1 lab	7de76f71be
22:36983568 CACNG2 A>G	22	36983568	36983568	A	G	CACNG2	c.239T>C	NM_006078.5	NP_006069.1:p.(Ile80Thr)	NC_000022.10:g.36983568A>G	VUS	1 lab	7de87725e3
19:46318293 RSPH6A G>A	19	46318293	46318293	G	A	RSPH6A	c.142C>T	NM_030785.4	NP_110412.1:p.(Pro48Ser)	NC_000019.9:g.46318293G>A	VUS	1 lab	7de91370fe
9:135946790 CEL C>G	9	135946790	135946790	C	G	CEL	c.1901C>G	NM_001807.6	NP_001798.3:p.(Ala634Gly)	NC_000009.11:g.135946790C>G	(Likely) benign	1 lab	7dea6c963c
12:6933294 GPR162 G>A	12	6933294	6933294	G	A	GPR162	c.230G>A	NM_019858.2	NP_062832.1:p.(Arg77His)	NC_000012.11:g.6933294G>A	(Likely) benign	1 lab	7dead93680
16:2161655 PKD1 G>C	16	2161655	2161655	G	C	PKD1	c.3513C>G	NM_001009944.3	NP_001009944.3:p.(Thr1171=)	NC_000016.9:g.2161655G>C	(Likely) benign	1 lab	7deb9fe634
2:42990722 OXER1 C>T	2	42990722	42990722	C	T	OXER1	c.481G>A	NM_148962.5	NP_683765.2:p.(Val161Met)	NC_000002.11:g.42990722C>T	(Likely) benign	1 lab	7dee96ec35
17:42982282 FAM187A A>C	17	42982282	42982282	A	C	FAM187A	c.1085A>C	NM_001258400.2	NP_001245329.1:p.(His362Pro)	NC_000017.10:g.42982282A>C	(Likely) benign	1 lab	7deeb7fee6
10:114925715 TCF7L2 C>T	10	114925715	114925715	C	T	TCF7L2	c.1844C>T	NM_001367943.1	NP_001354872.1:p.(Thr615Ile)	NC_000010.10:g.114925715C>T	VUS	1 lab	7df0617cd7
2:24428162 ITSN2 G>A	2	24428162	24428162	G	A	ITSN2	c.4641C>T	NM_001348181.2	NP_001335110.1:p.(Arg1547=)	NC_000002.11:g.24428162G>A	(Likely) benign	1 lab	2555ba83ef
12:48249526 VDR G>C	12	48249526	48249526	G	C	VDR	c.642C>G	NM_000376.3	NP_000367.1:p.(Asp214Glu)	NC_000012.11:g.48249526G>C	VUS	1 lab	7df1bef732
13:25482248 CPAP A>T	13	25482248	25482248	A	T	CPAP	c.882T>A	NM_018451.5	NP_060921.3:p.(Cys294Ter)	NC_000013.10:g.25482248A>T	VUS	1 lab	7df4c8b22d
6:168352502 AFDN C>G	6	168352502	168352502	C	G	AFDN	c.4468C>G	NM_001386888.1	NP_001373817.1:p.(Pro1490Ala)	NC_000006.11:g.168352502C>G	VUS	1 lab	7df5b8af50
12:42499692 GXYLT1 A>T	12	42499692	42499692	A	T	GXYLT1	c.792T>A	NM_173601.2	NP_775872.1:p.(Tyr264Ter)	NC_000012.11:g.42499692A>T	(Likely) benign	1 lab	7df7d0aeb9
4:1807365 FGFR3 C>T	4	1807365	1807365	C	T	FGFR3	c.1614C>T	NM_000142.5	NP_000133.1:p.(Ile538=)	NC_000004.11:g.1807365C>T	(Likely) benign	1 lab	7df84094d0
3:126733025 PLXNA1 C>T	3	126733025	126733025	C	T	PLXNA1	c.2411C>T	NM_032242.4	NP_115618.3:p.(Ala804Val)	NC_000003.11:g.126733025C>T	VUS	1 lab	7df8a31aaf
15:89403562 ACAN G>A	15	89403562	89403562	G	A	ACAN	c.6838G>A	NM_001369268.1	NP_001356197.1:p.(Ala2280Thr)	NC_000015.9:g.89403562G>A	(Likely) benign	1 lab	7df91d1b75
2:39222281 SOS1 G>A	2	39222281	39222281	G	A	SOS1	c.3329C>T	NM_005633.4	NP_005624.2:p.(Ser1110Leu)	NC_000002.11:g.39222281G>A	VUS	1 lab	7df96c453f
17:61908794 PSMC5 T>C	17	61908794	61908794	T	C	PSMC5	c.969+9T>C	NM_002805.6	NP_002796.4:p.?	NC_000017.10:g.61908794T>C	(Likely) benign	1 lab	7dfae4d0f8
16:58044972 USB1 C>T	16	58044972	58044972	C	T	USB1	c.449+956C>T	NM_024598.4	NP_078874.2:p.?	NC_000016.9:g.58044972C>T	(Likely) benign	1 lab	7dfc2bba46
16:21117970 DNAH3 C>T	16	21117970	21117970	C	T	DNAH3	c.1945G>A	NM_001347886.2	NP_001334815.1:p.(Ala649Thr)	NC_000016.9:g.21117970C>T	VUS	1 lab	7dfcfd4fa6
14:58932694 KIAA0586 C>G	14	58932694	58932694	C	G	KIAA0586	c.2201C>G	NM_001329943.3	NP_001316872.1:p.(Pro734Arg)	NC_000014.8:g.58932694C>G	(Likely) benign	1 lab	7dfd826746
19:33183393 NUDT19 G>A	19	33183393	33183393	G	A	NUDT19	c.527G>A	NM_001105570.2	NP_001099040.1:p.(Arg176His)	NC_000019.9:g.33183393G>A	VUS	1 lab	7e003476a2
20:43057087 HNF4A C>T	20	43057087	43057087	C	T	HNF4A	c.1242C>T	NM_000457.5	NP_000448.3:p.(Asn414=)	NC_000020.10:g.43057087C>T	(Likely) benign	1 lab	7e01787ecb
11:57564126 CTNND1 C>G	11	57564126	57564126	C	G	CTNND1	c.618C>G	NM_001085458.2	NP_001078927.1:p.(Phe206Leu)	NC_000011.9:g.57564126C>G	VUS	1 lab	7e01eb7ebc
1:178834155 ANGPTL1 G>A	1	178834155	178834155	G	A	ANGPTL1	c.757C>T	NM_004673.4	NP_004664.1:p.(Pro253Ser)	NC_000001.10:g.178834155G>A	VUS	1 lab	7e0208abc0
2:179639828 TTN T>C	2	179639828	179639828	T	C	TTN	c.6610A>G	NM_001267550.2	NP_001254479.2:p.(Lys2204Glu)	NC_000002.11:g.179639828T>C	(Likely) benign	1 lab	7e02cd5499
4:151727421 LRBA A>G	4	151727421	151727421	A	G	LRBA	c.5518+2T>C	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151727421A>G	VUS	1 lab	7e0324f65f
15:48719784 FBN1 C>A	15	48719784	48719784	C	A	FBN1	c.7184G>T	NM_000138.5	NP_000129.3:p.(Gly2395Val)	NC_000015.9:g.48719784C>A	VUS	1 lab	7e04542cba
12:53443974 TNS2 A>T	12	53443974	53443974	A	T	TNS2	c.5A>T	NM_170754.4	NP_736610.2:p.(Lys2Met)	NC_000012.11:g.53443974A>T	VUS	1 lab	7e051ca5bb
3:122255165 PARP9 G>A	3	122255165	122255165	G	A	PARP9	c.1930C>T	NM_001146105.2	NP_001139577.1:p.(Leu644Phe)	NC_000003.11:g.122255165G>A	(Likely) benign	1 lab	7e0621a9f6
2:23785358 KLHL29 T>C	2	23785358	23785358	T	C	KLHL29	c.285+7T>C	NM_052920.2	NP_443152.1:p.?	NC_000002.11:g.23785358T>C	(Likely) benign	1 lab	7e06e263c8
9:139329179 INPP5E C>A	9	139329179	139329179	C	A	INPP5E	c.936+13G>T	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139329179C>A	(Likely) benign	1 lab	7e0822e1c0
7:296983 FAM20C G>A	7	296983	296983	G	A	FAM20C	c.1376G>A	NM_020223.4	NP_064608.2:p.(Arg459His)	NC_000007.13:g.296983G>A	VUS	1 lab	7e0a171775
11:65651489 FIBP T>C	11	65651489	65651489	T	C	FIBP	c.1030A>G	NM_004214.5	NP_004205.2:p.(Met344Val)	NC_000011.9:g.65651489T>C	(Likely) benign	1 lab	7e0d192290
11:2186488 TH G>A	11	2186488	2186488	G	A	TH	c.1308C>T	NM_000360.4	NP_000351.2:p.(Ser436=)	NC_000011.9:g.2186488G>A	(Likely) benign	1 lab	7e0d5df4da
5:122685635 CEP120 T>C	5	122685635	122685635	T	C	CEP120	c.2726+3A>G	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122685635T>C	VUS	1 lab	7e0d78f97f
1:245025460 HNRNPU A>G	1	245025460	245025460	A	G	HNRNPU	c.877+303T>C	NM_031844.3	NP_114032.2:p.?	NC_000001.10:g.245025460A>G	(Likely) benign	1 lab	7e0e2c1444
X:84634347 POF1B T>G	X	84634347	84634347	T	G	POF1B	c.113A>C	NM_024921.4	NP_079197.3:p.(Gln38Pro)	NC_000023.10:g.84634347T>G	(Likely) benign	1 lab	7e0ebedf6f
12:12510054 BORCS5 T>C	12	12510054	12510054	T	C	BORCS5	c.-332T>C	NM_058169.6	NP_477517.1:p.?	NC_000012.11:g.12510054T>C	VUS	1 lab	7e0fb62e4d
15:82422872 EFL1 T>C	15	82422872	82422872	T	C	EFL1	c.3205A>G	NM_024580.6	NP_078856.4:p.(Thr1069Ala)	NC_000015.9:g.82422872T>C	(Likely) pathogenic	1 lab	7e10ba31d9
9:135947034 CEL G>GCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC	9	135947034	135947081	G	GCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC	CEL	c.2160_2192dup	NM_001807.6	NP_001798.3:p.(Gly721_Ser731dup)	NC_000009.11:g.135947049_135947081dup	(Likely) benign	1 lab	7e133b031b
22:42608477 TCF20 C>G	22	42608477	42608477	C	G	TCF20	c.2835G>C	NM_001378418.1	NP_001365347.1:p.(Lys945Asn)	NC_000022.10:g.42608477C>G	(Likely) benign	1 lab	7e137346e5
15:75309028 SCAMP5 G>A	15	75309028	75309028	G	A	SCAMP5	c.231G>A	NM_138967.4	NP_620417.1:p.(Trp77Ter)	NC_000015.9:g.75309028G>A	VUS	1 lab	7e1377ea3a
17:41245487 BRCA1 C>G	17	41245487	41245487	C	G	BRCA1	c.2061G>C	NM_007294.3	NP_009225.1:p.(Gln687His)	NC_000017.10:g.41245487C>G	(Likely) pathogenic	1 lab	2559b041fc
4:6594940 MAN2B2 CCTCCCCAAG>C	4	6594940	6594949	CCTCCCCAAG	C	MAN2B2	c.722_730del	NM_015274.3	NP_056089.1:p.(Pro241_Asp244delinsHis)	NC_000004.11:g.6594941_6594949del	VUS	1 lab	23d7ceda91
6:152823875 SYNE1 C>T	6	152823875	152823875	C	T	SYNE1	c.781G>A	NM_182961.4	NP_892006.3:p.(Val261Ile)	NC_000006.11:g.152823875C>T	(Likely) benign	1 lab	7e14e5a46a
19:17449933 GTPBP3 C>A	19	17449933	17449933	C	A	GTPBP3	c.666C>A	NM_032620.4	NP_116009.2:p.(Ala222=)	NC_000019.9:g.17449933C>A	VUS	1 lab	7e1505d379
13:110827609 COL4A1 C>A	13	110827609	110827609	C	A	COL4A1	c.3154G>T	NM_001845.6	NP_001836.3:p.(Ala1052Ser)	NC_000013.10:g.110827609C>A	VUS	1 lab	7e16790993
12:121432119 HNF1A C>G	12	121432119	121432119	C	G	HNF1A	c.866C>G	NM_000545.8	NP_000536.6:p.(Pro289Arg)	NC_000012.11:g.121432119C>G	VUS	1 lab	7e173bb145
14:91341662 RPS6KA5 G>C	14	91341662	91341662	G	C	RPS6KA5	c.1879C>G	NM_004755.4	NP_004746.2:p.(Arg627Gly)	NC_000014.8:g.91341662G>C	(Likely) benign	1 lab	7e193a971e
15:75557769 GOLGA6C A>G	15	75557769	75557769	A	G	GOLGA6C	c.759+4A>G	NM_001164404.2	NP_001157876.1:p.?	NC_000015.9:g.75557769A>G	(Likely) benign	1 lab	7e199d4cf3
9:133577664 EXOSC2 A>C	9	133577664	133577664	A	C	EXOSC2	c.639A>C	NM_014285.7	NP_055100.2:p.(Glu213Asp)	NC_000009.11:g.133577664A>C	(Likely) benign	1 lab	7e1b95e22c
16:88802740 PIEZO1 C>T	16	88802740	88802740	C	T	PIEZO1	c.1373G>A	NM_001142864.4	NP_001136336.2:p.(Ser458Asn)	NC_000016.9:g.88802740C>T	VUS	1 lab	7e1bc0373b
19:18898355 COMP C>CT	19	18898355	18898359	C	CT	COMP	c.1079dup	NM_000095.3	NP_000086.2:p.(Asp361GlyfsTer29)	NC_000019.9:g.18898359dup	(Likely) pathogenic	1 lab	7e1cbd0aad
8:11614519 GATA4 G>C	8	11614519	11614519	G	C	GATA4	c.1076G>C	NM_001308093.3	NP_001295022.1:p.(Ser359Thr)	NC_000008.10:g.11614519G>C	VUS	1 lab	7e1d788886
19:13363912 CACNA1A A>G	19	13363912	13363912	A	G	CACNA1A	c.4759T>C	NM_001127222.2	NP_001120694.1:p.(Tyr1587His)	NC_000019.9:g.13363912A>G	(Likely) benign	1 lab	7e1e99e875
19:36224532 KMT2B C>T	19	36224532	36224532	C	T	KMT2B	c.6994C>T	NM_014727.3	NP_055542.1:p.(Arg2332Cys)	NC_000019.9:g.36224532C>T	(Likely) benign	1 lab	7e1ee4e86f
15:68521870 CLN6 G>A	15	68521870	68521870	G	A	CLN6	c.53C>T	NM_017882.3	NP_060352.1:p.(Ala18Val)	NC_000015.9:g.68521870G>A	(Likely) benign	1 lab	7e217e794f
7:38829392 VPS41 G>T	7	38829392	38829392	G	T	VPS41	c.784+9C>A	NM_014396.4	NP_055211.2:p.?	NC_000007.13:g.38829392G>T	(Likely) benign	1 lab	7e21bf4595
1:231126419 ARV1 G>GC	1	231126419	231126426	G	GC	ARV1	c.448+417dup	NM_022786.3	NP_073623.1:p.?	NC_000001.10:g.231126426dup	VUS	1 lab	7e2276db17
18:42456623 SETBP1 T>C	18	42456623	42456623	T	C	SETBP1	c.540+7375T>C	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456623T>C	(Likely) benign	1 lab	7e22f86476
1:235993565 LYST T>G	1	235993565	235993565	T	G	LYST	c.153A>C	NM_000081.4	NP_000072.2:p.(Gly51=)	NC_000001.10:g.235993565T>G	(Likely) benign	1 lab	7e2348e046
2:241439903 ANKMY1 G>A	2	241439903	241439903	G	A	ANKMY1	c.2606C>T	NM_001282771.3	NP_001269700.1:p.(Thr869Ile)	NC_000002.11:g.241439903G>A	VUS	1 lab	7e23a4b723
19:39989943 DLL3 A>G	19	39989943	39989943	A	G	DLL3	c.181A>G	NM_203486.3	NP_982353.1:p.(Arg61Gly)	NC_000019.9:g.39989943A>G	VUS	1 lab	7e247b6100
6:31996297 C4B G>A	6	31996297	31996297	G	A	C4B	c.3218G>A	NM_001002029.4	NP_001002029.3:p.(Gly1073Asp)	NC_000006.11:g.31996297G>A	(Likely) benign	1 lab	7e253d5c4e
17:77705100 ENPP7 A>G	17	77705100	77705100	A	G	ENPP7	c.199A>G	NM_178543.5	NP_848638.3:p.(Met67Val)	NC_000017.10:g.77705100A>G	(Likely) benign	1 lab	7e25b3357b
22:51117628 SHANK3 C>T	22	51117628	51117628	C	T	SHANK3	c.993+14C>T	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51117628C>T	(Likely) benign	1 lab	255bd0f25b
1:202720029 KDM5B A>G	1	202720029	202720029	A	G	KDM5B	c.1702-123T>C	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202720029A>G	(Likely) benign	1 lab	7e271b871e
2:149806409 KIF5C G>A	2	149806409	149806409	G	A	KIF5C	c.771G>A	NM_004522.3	NP_004513.1:p.(Lys257=)	NC_000002.11:g.149806409G>A	(Likely) benign	1 lab	7e28251844
20:50408463 SALL4 G>A	20	50408463	50408463	G	A	SALL4	c.559C>T	NM_020436.5	NP_065169.1:p.(Arg187Trp)	NC_000020.10:g.50408463G>A	VUS	1 lab	7e28671870
8:110456019 PKHD1L1 T>G	8	110456019	110456019	T	G	PKHD1L1	c.4679T>G	NM_177531.6	NP_803875.2:p.(Val1560Gly)	NC_000008.10:g.110456019T>G	(Likely) benign	1 lab	7e299e9532
1:22154888 HSPG2 G>T	1	22154888	22154888	G	T	HSPG2	c.12269C>A	NM_005529.7	NP_005520.4:p.(Thr4090Asn)	NC_000001.10:g.22154888G>T	VUS	1 lab	7e29c05448
12:120941645 COQ5 A>G	12	120941645	120941645	A	G	COQ5	c.926T>C	NM_032314.4	NP_115690.3:p.(Val309Ala)	NC_000012.11:g.120941645A>G	VUS	1 lab	7e2b64feda
19:38991448 RYR1 T>C	19	38991448	38991448	T	C	RYR1	c.7445-13T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38991448T>C	(Likely) benign	1 lab	7e2ebb705c
10:37414900 ANKRD30A A>C	10	37414900	37414900	A	C	ANKRD30A	c.185A>C	NM_052997.3	NP_443723.3:p.(Lys62Thr)	NC_000010.10:g.37414900A>C	(Likely) benign	1 lab	7e351a73ab
16:70551615 COG4 C>T	16	70551615	70551615	C	T	COG4	c.283G>A	NM_015386.3	NP_056201.2:p.(Ala95Thr)	NC_000016.9:g.70551615C>T	(Likely) benign	1 lab	7e367ba50f
12:12278306 LRP6 G>T	12	12278306	12278306	G	T	LRP6	c.4373C>A	NM_002336.3	NP_002327.2:p.(Pro1458His)	NC_000012.11:g.12278306G>T	VUS	1 lab	7e37539ac4
4:119219957 PRSS12 G>A	4	119219957	119219957	G	A	PRSS12	c.1768C>T	NM_003619.4	NP_003610.2:p.(Arg590Cys)	NC_000004.11:g.119219957G>A	VUS	1 lab	7e37785422
7:98507841 TRRAP GCCCCACCTCCACCCCCGC>G	7	98507841	98507866	GCCCCACCTCCACCCCCGC	G	TRRAP	c.1521_1538del	NM_001375524.1	NP_001362453.1:p.(Pro510_Pro515del)	NC_000007.13:g.98507849_98507866del	VUS	1 lab	7e37fa5ae8
1:16344308 HSPB7 C>T	1	16344308	16344308	C	T	HSPB7	c.151G>A	NM_014424.5	NP_055239.1:p.(Asp51Asn)	NC_000001.10:g.16344308C>T	VUS	1 lab	7e5befa87a
2:233394675 CHRND C>T	2	233394675	233394675	C	T	CHRND	c.646C>T	NM_000751.3	NP_000742.1:p.(Arg216Trp)	NC_000002.11:g.233394675C>T	(Likely) benign	1 lab	7e396d675a
15:89386741 ACAN C>T	15	89386741	89386741	C	T	ACAN	c.913C>T	NM_001369268.1	NP_001356197.1:p.(Arg305Cys)	NC_000015.9:g.89386741C>T	VUS	1 lab	7e3be29152
9:131396153 DYNC2I2 T>C	9	131396153	131396153	T	C	DYNC2I2	c.1481A>G	NM_052844.4	NP_443076.2:p.(Gln494Arg)	NC_000009.11:g.131396153T>C	VUS	1 lab	7e3cf57e7f
11:47371314 MYBPC3 G>A	11	47371314	47371314	G	A	MYBPC3	c.654+11C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371314G>A	(Likely) benign	1 lab	255c5e5f26
1:19487440 UBR4 C>T	1	19487440	19487440	C	T	UBR4	c.5377G>A	NM_020765.3	NP_065816.2:p.(Glu1793Lys)	NC_000001.10:g.19487440C>T	VUS	1 lab	7e3f25fa49
1:46726525 RAD54L C>T	1	46726525	46726525	C	T	RAD54L	c.604C>T	NM_003579.4	NP_003570.2:p.(Arg202Cys)	NC_000001.10:g.46726525C>T	(Likely) benign	1 lab	7e3fd59c01
1:27101529 ARID1A C>T	1	27101529	27101529	C	T	ARID1A	c.4811C>T	NM_006015.6	NP_006006.3:p.(Ser1604Phe)	NC_000001.10:g.27101529C>T	(Likely) benign	1 lab	7e41caa31b
9:32488005 RIGI T>C	9	32488005	32488005	T	C	RIGI	c.1150A>G	NM_014314.4	NP_055129.2:p.(Asn384Asp)	NC_000009.11:g.32488005T>C	(Likely) benign	1 lab	7e4246a683
17:40715969 COASY C>T	17	40715969	40715969	C	T	COASY	c.701-10C>T	NM_025233.7	NP_079509.5:p.?	NC_000017.10:g.40715969C>T	(Likely) benign	1 lab	7e4376063f
8:118849381 EXT1 C>G	8	118849381	118849381	C	G	EXT1	c.1022G>C	NM_000127.3	NP_000118.2:p.(Arg341Thr)	NC_000008.10:g.118849381C>G	VUS	1 lab	7e43c63975
18:44603768 KATNAL2 C>T	18	44603768	44603768	C	T	KATNAL2	c.1147C>T	NM_001387690.1	NP_001374619.1:p.(Gln383Ter)	NC_000018.9:g.44603768C>T	VUS	1 lab	7e44d9eec3
9:35807054 NPR2 G>T	9	35807054	35807054	G	T	NPR2	c.2554G>T	NM_003995.4	NP_003986.2:p.(Val852Leu)	NC_000009.11:g.35807054G>T	VUS	1 lab	7e458cbaf5
16:89346999 ANKRD11 G>GA	16	89346999	89347000	G	GA	ANKRD11	c.5950_5951insT	NM_001256182.2	NP_001243111.1:p.(Pro1984LeufsTer48)	NC_000016.9:g.89346999_89347000insA	(Likely) pathogenic	1 lab	23d82fa100
2:233407985 CHRNG C>CT	2	233407985	233407986	C	CT	CHRNG	c.807dup	NM_005199.5	NP_005190.4:p.(Gly270TrpfsTer28)	NC_000002.11:g.233407986dup	VUS	1 lab	7e46b65fde
17:1675172 SERPINF1 G>A	17	1675172	1675172	G	A	SERPINF1	c.446G>A	NM_002615.7	NP_002606.3:p.(Arg149His)	NC_000017.10:g.1675172G>A	VUS	1 lab	7e8a49d7f2
3:48613730 COL7A1 C>T	3	48613730	48613730	C	T	COL7A1	c.5773-1G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48613730C>T	(Likely) pathogenic	1 lab	23dc9f5b3e
3:126723844 PLXNA1 A>T	3	126723844	126723844	A	T	PLXNA1	c.1736A>T	NM_032242.4	NP_115618.3:p.(Gln579Leu)	NC_000003.11:g.126723844A>T	(Likely) benign	1 lab	7e470db3f0
2:47657025 MSH2 CTA>C	2	47657025	47657028	CTA	C	MSH2	c.1223_1224del	NM_000251.3	NP_000242.1:p.(Tyr408SerfsTer8)	NC_000002.11:g.47657027_47657028del	(Likely) pathogenic	1 lab	7e48619dfd
2:145275183 ZEB2 T>A	2	145275183	145275183	T	A	ZEB2	c.-69-197A>T	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145275183T>A	(Likely) benign	1 lab	7e4b63f1c1
7:50671714 GRB10 G>C	7	50671714	50671714	G	C	GRB10	c.1525C>G	NM_001350814.2	NP_001337743.1:p.(Gln509Glu)	NC_000007.13:g.50671714G>C	VUS	1 lab	7e4b7298af
19:11102007 SMARCA4 C>T	19	11102007	11102007	C	T	SMARCA4	c.1419+8C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11102007C>T	(Likely) benign	1 lab	7e4c6a9e0f
X:15841230 ZRSR2 C>CAGCCGG	X	15841230	15841259	C	CAGCCGG	ZRSR2	c.1338_1343dup	NM_005089.4	NP_005080.1:p.(Ser447_Arg448dup)	NC_000023.10:g.15841254_15841259dup	(Likely) benign	1 lab	7e4dbb4918
19:50905725 POLD1 C>T	19	50905725	50905725	C	T	POLD1	c.773C>T	NM_002691.4	NP_002682.2:p.(Thr258Met)	NC_000019.9:g.50905725C>T	(Likely) benign	1 lab	7e4f390129
6:117243197 RFX6 C>T	6	117243197	117243197	C	T	RFX6	c.1328-8C>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243197C>T	(Likely) benign	1 lab	7e4f722b8a
22:46932910 CELSR1 C>A	22	46932910	46932910	C	A	CELSR1	c.158G>T	NM_001378328.1	NP_001365257.1:p.(Gly53Val)	NC_000022.10:g.46932910C>A	VUS	1 lab	7e50375845
12:48367906 COL2A1 C>T	12	48367906	48367906	C	T	COL2A1	c.4283G>A	NM_001844.5	NP_001835.3:p.(Arg1428Lys)	NC_000012.11:g.48367906C>T	VUS	1 lab	7e52de793c
19:37406034 ZNF829 C>T	19	37406034	37406034	C	T	ZNF829	c.36G>A	NM_001037232.4	NP_001032309.2:p.(Val12=)	NC_000019.9:g.37406034C>T	(Likely) benign	1 lab	7e54f392be
20:60907680 LAMA5 C>T	20	60907680	60907680	C	T	LAMA5	c.3376G>A	NM_005560.6	NP_005551.3:p.(Val1126Met)	NC_000020.10:g.60907680C>T	VUS	1 lab	7e55156073
6:51892628 PKHD1 C>T	6	51892628	51892628	C	T	PKHD1	c.3627G>A	NM_138694.4	NP_619639.3:p.(Leu1209=)	NC_000006.11:g.51892628C>T	(Likely) benign	1 lab	255f34e5a8
7:143020780 CLCN1 T>C	7	143020780	143020780	T	C	CLCN1	c.774+301T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143020780T>C	(Likely) benign	1 lab	2565fc16d3
3:38520014 ACVR2B G>A	3	38520014	38520014	G	A	ACVR2B	c.666+5G>A	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38520014G>A	(Likely) benign	1 lab	7e5738936f
4:84518004 GPAT3 T>C	4	84518004	84518004	T	C	GPAT3	c.855-7T>C	NM_032717.5	NP_116106.2:p.?	NC_000004.11:g.84518004T>C	(Likely) benign	1 lab	7e59cf790a
1:235658082 B3GALNT2 C>T	1	235658082	235658082	C	T	B3GALNT2	c.169G>A	NM_152490.5	NP_689703.1:p.(Val57Met)	NC_000001.10:g.235658082C>T	VUS	1 lab	23dcce316c
1:202709924 KDM5B T>C	1	202709924	202709924	T	C	KDM5B	c.2962A>G	NM_006618.5	NP_006609.3:p.(Asn988Asp)	NC_000001.10:g.202709924T>C	(Likely) benign	1 lab	7e5b1249cf
2:227954649 COL4A4 G>A	2	227954649	227954649	G	A	COL4A4	c.1394C>T	NM_000092.5	NP_000083.3:p.(Pro465Leu)	NC_000002.11:g.227954649G>A	VUS	1 lab	7e5b2db39a
2:108455376 RGPD4 G>A	2	108455376	108455376	G	A	RGPD4	c.361G>A	NM_182588.3	NP_872394.2:p.(Ala121Thr)	NC_000002.11:g.108455376G>A	(Likely) benign	1 lab	7e5b36a29b
15:91292978 BLM T>C	15	91292978	91292978	T	C	BLM	c.480T>C	NM_000057.4	NP_000048.1:p.(Phe160=)	NC_000015.9:g.91292978T>C	(Likely) benign	1 lab	7e5b4fc95c
3:30686237 TGFBR2 A>G	3	30686237	30686237	A	G	TGFBR2	c.95-2A>G	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30686237A>G	(Likely) pathogenic	1 lab	7e5c385b9b
11:64037784 BAD G>A	11	64037784	64037784	G	A	BAD	c.404C>T	NM_032989.3	NP_116784.1:p.(Ala135Val)	NC_000011.9:g.64037784G>A	(Likely) benign	1 lab	7e5e2d211f
16:70166113 PDPR G>A	16	70166113	70166113	G	A	PDPR	c.907G>A	NM_017990.5	NP_060460.4:p.(Gly303Arg)	NC_000016.9:g.70166113G>A	VUS	1 lab	7e5eea74fe
22:32109640 PRR14L C>G	22	32109640	32109640	C	G	PRR14L	c.4185G>C	NM_173566.3	NP_775837.2:p.(Leu1395Phe)	NC_000022.10:g.32109640C>G	VUS	1 lab	7e5f88b111
1:19546196 EMC1 C>T	1	19546196	19546196	C	T	EMC1	c.2673-4G>A	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19546196C>T	(Likely) benign	1 lab	7e60e72aa1
19:54778586 LILRB2 CT>C	19	54778586	54778589	CT	C	LILRB2	c.1744del	NM_001080978.4	NP_001074447.2:p.(Arg582GlyfsTer68)	NC_000019.9:g.54778589del	VUS	1 lab	7e61040fbf
13:110804867 COL4A1 G>A	13	110804867	110804867	G	A	COL4A1	c.4756-14C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110804867G>A	(Likely) benign	1 lab	7e6158fa92
19:7150558 INSR C>T	19	7150558	7150558	C	T	INSR	c.2232-15G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7150558C>T	(Likely) benign	1 lab	7e64961572
3:70014108 MITF C>G	3	70014108	70014108	C	G	MITF	c.1290C>G	NM_001354604.2	NP_001341533.1:p.(Asn430Lys)	NC_000003.11:g.70014108C>G	VUS	1 lab	7e64d326f8
5:7868313 FASTKD3 G>GAAAAA	5	7868313	7868336	G	GAAAAA	FASTKD3	c.-113-9_-113-5dup	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868332_7868336dup	(Likely) benign	1 lab	7e67981c3c
15:64021846 HERC1 A>G	15	64021846	64021846	A	G	HERC1	c.2871T>C	NM_003922.4	NP_003913.3:p.(Asp957=)	NC_000015.9:g.64021846A>G	(Likely) benign	1 lab	7e6a2fcf65
21:44171278 PDE9A C>T	21	44171278	44171278	C	T	PDE9A	c.706C>T	NM_002606.3	NP_002597.1:p.(Pro236Ser)	NC_000021.8:g.44171278C>T	VUS	1 lab	7e6af15de2
18:20516888 RBBP8 C>T	18	20516888	20516888	C	T	RBBP8	c.74C>T	NM_002894.3	NP_002885.1:p.(Thr25Ile)	NC_000018.9:g.20516888C>T	VUS	1 lab	7e6ca5ffb1
6:138196066 TNFAIP3 T>G	6	138196066	138196066	T	G	TNFAIP3	c.380T>G	NM_006290.4	NP_006281.1:p.(Phe127Cys)	NC_000006.11:g.138196066T>G	(Likely) benign	1 lab	23dfb30f69
15:74368098 GOLGA6A G>A	15	74368098	74368098	G	A	GOLGA6A	c.685C>T	NM_001038640.2	NP_001033729.2:p.(Arg229Ter)	NC_000015.9:g.74368098G>A	VUS	1 lab	7e6ead9274
22:42564699 TCF20 G>C	22	42564699	42564699	G	C	TCF20	c.5843C>G	NM_001378418.1	NP_001365347.1:p.(Ala1948Gly)	NC_000022.10:g.42564699G>C	(Likely) benign	1 lab	7e70844986
16:1488052 CCDC154 A>C	16	1488052	1488052	A	C	CCDC154	c.1151T>G	NM_001143980.3	NP_001137452.1:p.(Leu384Arg)	NC_000016.9:g.1488052A>C	VUS	1 lab	7e71ae9ae7
17:60033712 MED13 C>T	17	60033712	60033712	C	T	MED13	c.5611G>A	NM_005121.3	NP_005112.2:p.(Gly1871Arg)	NC_000017.10:g.60033712C>T	VUS	1 lab	7e71c4fada
16:5123201 ALG1 A>C	16	5123201	5123201	A	C	ALG1	c.334A>C	NM_019109.4	NP_061982.3:p.(Met112Leu)	NC_000016.9:g.5123201A>C	(Likely) benign	1 lab	25691ba1a2
12:114837402 TBX5 C>T	12	114837402	114837402	C	T	TBX5	c.278G>A	NM_181486.4	NP_852259.1:p.(Gly93Asp)	NC_000012.11:g.114837402C>T	VUS	1 lab	7e73de6444
6:129470107 LAMA2 TC>T	6	129470107	129470110	TC	T	LAMA2	c.910-14del	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129470110del	(Likely) benign	1 lab	7e76c376d9
19:6696625 C3 C>G	19	6696625	6696625	C	G	C3	c.2842G>C	NM_000064.4	NP_000055.2:p.(Asp948His)	NC_000019.9:g.6696625C>G	(Likely) benign	1 lab	7e77546df3
12:20522723 PDE3A G>C	12	20522723	20522723	G	C	PDE3A	c.505G>C	NM_000921.5	NP_000912.3:p.(Gly169Arg)	NC_000012.11:g.20522723G>C	(Likely) benign	1 lab	7e77573f3f
6:87967413 ZNF292 A>G	6	87967413	87967413	A	G	ZNF292	c.4066A>G	NM_015021.3	NP_055836.1:p.(Arg1356Gly)	NC_000006.11:g.87967413A>G	VUS	1 lab	7e788f50d6
3:9476085 SETD5 C>T	3	9476085	9476085	C	T	SETD5	c.245C>T	NM_001080517.3	NP_001073986.1:p.(Pro82Leu)	NC_000003.11:g.9476085C>T	VUS	1 lab	7e7a4925c1
20:49510052 ADNP G>T	20	49510052	49510052	G	T	ADNP	c.1199C>A	NM_001282531.3	NP_001269460.1:p.(Ser400Tyr)	NC_000020.10:g.49510052G>T	VUS	1 lab	7e7a9a7b58
2:121685041 GLI2 G>A	2	121685041	121685041	G	A	GLI2	c.253G>A	NM_001374353.1	NP_001361282.1:p.(Gly85Arg)	NC_000002.11:g.121685041G>A	(Likely) benign	1 lab	7e7b38b814
17:80332903 UTS2R G>C	17	80332903	80332903	G	C	UTS2R	c.703G>C	NM_018949.3	NP_061822.1:p.(Ala235Pro)	NC_000017.10:g.80332903G>C	VUS	1 lab	7e7c1a0995
15:89381986 ACAN G>A	15	89381986	89381986	G	A	ACAN	c.163G>A	NM_001369268.1	NP_001356197.1:p.(Asp55Asn)	NC_000015.9:g.89381986G>A	VUS	1 lab	7e7f4815ea
17:42940079 EFTUD2 A>T	17	42940079	42940079	A	T	EFTUD2	c.1607+2T>A	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42940079A>T	VUS	1 lab	7e8217e9bd
9:135944543 CEL C>T	9	135944543	135944543	C	T	CEL	c.1183C>T	NM_001807.6	NP_001798.3:p.(Pro395Ser)	NC_000009.11:g.135944543C>T	(Likely) benign	1 lab	7e82974966
19:42364872 RPS19 A>C	19	42364872	42364872	A	C	RPS19	c.28A>C	NM_001022.4	NP_001013.1:p.(Asn10His)	NC_000019.9:g.42364872A>C	(Likely) benign	1 lab	7e83076f23
1:244724349 CATSPERE A>G	1	244724349	244724349	A	G	CATSPERE	c.1409A>G	NM_001130957.2	NP_001124429.1:p.(Tyr470Cys)	NC_000001.10:g.244724349A>G	(Likely) benign	1 lab	7e84b0013f
15:90631712 IDH2 G>A	15	90631712	90631712	G	A	IDH2	c.557C>T	NM_002168.4	NP_002159.2:p.(Ala186Val)	NC_000015.9:g.90631712G>A	(Likely) benign	1 lab	7e880ddb07
1:24122489 GALE G>T	1	24122489	24122489	G	T	GALE	c.997C>A	NM_001008216.2	NP_001008217.1:p.(Leu333Ile)	NC_000001.10:g.24122489G>T	VUS	1 lab	7e882eb9e2
19:39233142 CAPN12 C>T	19	39233142	39233142	C	T	CAPN12	c.334G>A	NM_144691.4	NP_653292.2:p.(Ala112Thr)	NC_000019.9:g.39233142C>T	VUS	1 lab	7e884e4a35
7:103293206 RELN C>A	7	103293206	103293206	C	A	RELN	c.1555G>T	NM_005045.4	NP_005036.2:p.(Val519Phe)	NC_000007.13:g.103293206C>A	(Likely) benign	1 lab	7e8896dea5
19:11312713 DOCK6 A>G	19	11312713	11312713	A	G	DOCK6	c.5540T>C	NM_020812.4	NP_065863.2:p.(Leu1847Pro)	NC_000019.9:g.11312713A>G	VUS	1 lab	7e88dc0370
7:101892229 CUX1 C>A	7	101892229	101892229	C	A	CUX1	c.4425C>A	NM_181552.4	NP_853530.2:p.(Pro1475=)	NC_000007.13:g.101892229C>A	(Likely) benign	1 lab	7e8950e661
19:15280977 NOTCH3 T>C	19	15280977	15280977	T	C	NOTCH3	c.5119A>G	NM_000435.3	NP_000426.2:p.(Met1707Val)	NC_000019.9:g.15280977T>C	VUS	1 lab	7e89a297a9
19:42563506 GRIK5 G>A	19	42563506	42563506	G	A	GRIK5	c.682C>T	NM_002088.5	NP_002079.3:p.(Arg228Cys)	NC_000019.9:g.42563506G>A	(Likely) benign	1 lab	7e8a62f3f9
15:41227314 DLL4 C>T	15	41227314	41227314	C	T	DLL4	c.1239C>T	NM_019074.4	NP_061947.1:p.(Asn413=)	NC_000015.9:g.41227314C>T	(Likely) benign	1 lab	7e8a63163e
1:145460264 POLR3GL CT>C	1	145460264	145460265	CT	C	POLR3GL	c.-41-2del	NM_032305.3	NP_115681.1:p.?	NC_000001.10:g.145460265del	VUS	1 lab	7e8b1ff364
20:44580887 ZNF335 C>T	20	44580887	44580887	C	T	ZNF335	c.3088G>A	NM_022095.4	NP_071378.1:p.(Gly1030Ser)	NC_000020.10:g.44580887C>T	VUS	1 lab	7e8cf8e375
6:161512423 MAP3K4 G>A	6	161512423	161512423	G	A	MAP3K4	c.2986G>A	NM_005922.4	NP_005913.3:p.(Glu996Lys)	NC_000006.11:g.161512423G>A	VUS	1 lab	7e8d05c454
6:129837340 LAMA2 C>T	6	129837340	129837340	C	T	LAMA2	c.9217C>T	NM_000426.4	NP_000417.3:p.(Leu3073Phe)	NC_000006.11:g.129837340C>T	(Likely) benign	1 lab	7e8d2999a6
14:20020070 POTEM C>T	14	20020070	20020070	C	T	POTEM	c.151G>A	NM_001145442.1	NP_001138914.1:p.(Asp51Asn)	NC_000014.8:g.20020070C>T	(Likely) benign	1 lab	7e8d73c95b
7:82585825 PCLO C>A	7	82585825	82585825	C	A	PCLO	c.4444G>T	NM_033026.6	NP_149015.2:p.(Asp1482Tyr)	NC_000007.13:g.82585825C>A	(Likely) benign	1 lab	7e8e54bd76
12:49425910 KMT2D G>A	12	49425910	49425910	G	A	KMT2D	c.12578C>T	NM_003482.4	NP_003473.3:p.(Thr4193Met)	NC_000012.11:g.49425910G>A	(Likely) benign	1 lab	7e8f1cf606
2:141680716 LRP1B T>C	2	141680716	141680716	T	C	LRP1B	c.3137A>G	NM_018557.3	NP_061027.2:p.(Glu1046Gly)	NC_000002.11:g.141680716T>C	VUS	1 lab	7e8f5cf85d
2:173352507 ITGA6 G>T	2	173352507	173352507	G	T	ITGA6	c.2296G>T	NM_000210.4	NP_000201.2:p.(Asp766Tyr)	NC_000002.11:g.173352507G>T	(Likely) benign	1 lab	7e8fe023a8
19:47920466 MEIS3 C>T	19	47920466	47920466	C	T	MEIS3	c.154G>A	NM_001301059.2	NP_001287988.1:p.(Gly52Ser)	NC_000019.9:g.47920466C>T	VUS	1 lab	7e8ff297fd
6:52935896 FBXO9 AGAT>A	6	52935896	52935907	AGAT	A	FBXO9	c.54_56del	NM_033480.3	NP_258441.1:p.(Asp18del)	NC_000006.11:g.52935905_52935907del	VUS	1 lab	7e90fb421e
2:220424096 OBSL1 C>T	2	220424096	220424096	C	T	OBSL1	c.3077G>A	NM_015311.3	NP_056126.1:p.(Gly1026Glu)	NC_000002.11:g.220424096C>T	VUS	1 lab	7e9176df53
1:156108400 LMNA T>G	1	156108400	156108400	T	G	LMNA	c.1820T>G	NM_170707.4	NP_733821.1:p.(Val607Gly)	NC_000001.10:g.156108400T>G	VUS	1 lab	7e9203c994
5:122426175 PRDM6 G>GGCGGCGGGGAGGGTC	5	122426175	122426196	G	GGCGGCGGGGAGGGTC	PRDM6	c.473_487dup	NM_001136239.4	NP_001129711.1:p.(Gly158_Gly162dup)	NC_000005.9:g.122426182_122426196dup	VUS	1 lab	7e93452bd5
2:223494847 FARSB C>A	2	223494847	223494847	C	A	FARSB	c.833G>T	NM_005687.5	NP_005678.3:p.(Cys278Phe)	NC_000002.11:g.223494847C>A	VUS	1 lab	7e93c2d794
3:33059977 GLB1 T>C	3	33059977	33059977	T	C	GLB1	c.1310A>G	NM_000404.4	NP_000395.3:p.(Asn437Ser)	NC_000003.11:g.33059977T>C	(Likely) benign	1 lab	7e93d950b9
12:7045326 ATN1 C>T	12	7045326	7045326	C	T	ATN1	c.896C>T	NM_001940.4	NP_001931.2:p.(Pro299Leu)	NC_000012.11:g.7045326C>T	(Likely) benign	1 lab	7e94a5fa86
19:18893790 COMP C>T	19	18893790	18893790	C	T	COMP	c.2228-19G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18893790C>T	(Likely) benign	1 lab	7e955ad990
11:70666591 SHANK2 G>A	11	70666591	70666591	G	A	SHANK2	c.1371C>T	NM_012309.5	NP_036441.2:p.(Pro457=)	NC_000011.9:g.70666591G>A	VUS	1 lab	7e95b28ffd
4:113570726 LARP7 C>T	4	113570726	113570726	C	T	LARP7	c.1178C>T	NM_016648.4	NP_057732.2:p.(Ala393Val)	NC_000004.11:g.113570726C>T	VUS	1 lab	7e96ba82ec
2:233351209 ECEL1 A>G	2	233351209	233351209	A	G	ECEL1	c.155T>C	NM_004826.4	NP_004817.2:p.(Leu52Pro)	NC_000002.11:g.233351209A>G	VUS	1 lab	7e97184639
16:1825793 EME2 C>T	16	1825793	1825793	C	T	EME2	c.780-5C>T	NM_001257370.2	NP_001244299.1:p.?	NC_000016.9:g.1825793C>T	(Likely) benign	1 lab	7e9831d4c9
4:5806511 EVC C>T	4	5806511	5806511	C	T	EVC	c.2504C>T	NM_153717.3	NP_714928.1:p.(Ser835Leu)	NC_000004.11:g.5806511C>T	(Likely) benign	1 lab	7e98d90f96
1:17249200 CROCC G>A	1	17249200	17249200	G	A	CROCC	c.103G>A	NM_014675.5	NP_055490.4:p.(Ala35Thr)	NC_000001.10:g.17249200G>A	VUS	1 lab	7e99038bcf
16:50757217 NOD2 T>A	16	50757217	50757217	T	A	NOD2	c.2723T>A	NM_001370466.1	NP_001357395.1:p.(Val908Glu)	NC_000016.9:g.50757217T>A	VUS	1 lab	7e9d5d7931
17:78343393 RNF213 C>A	17	78343393	78343393	C	A	RNF213	c.12247C>A	NM_001256071.3	NP_001243000.2:p.(Pro4083Thr)	NC_000017.10:g.78343393C>A	(Likely) benign	1 lab	7e9f56bbd5
6:87966091 ZNF292 G>A	6	87966091	87966091	G	A	ZNF292	c.2744G>A	NM_015021.3	NP_055836.1:p.(Gly915Glu)	NC_000006.11:g.87966091G>A	(Likely) benign	1 lab	7e9fea770a
3:1269504 CNTN6 G>A	3	1269504	1269504	G	A	CNTN6	c.185G>A	NM_001289080.2	NP_001276009.1:p.(Trp62Ter)	NC_000003.11:g.1269504G>A	VUS	1 lab	7ea1503d95
5:37045535 NIPBL T>C	5	37045535	37045535	T	C	NIPBL	c.6344-10T>C	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37045535T>C	(Likely) benign	1 lab	7ea1b61b2e
1:43897426 SZT2 C>T	1	43897426	43897426	C	T	SZT2	c.5128C>T	NM_001365999.1	NP_001352928.1:p.(Arg1710Ter)	NC_000001.10:g.43897426C>T	(Likely) pathogenic	1 lab	7ea2c38764
15:55790414 DNAAF4 G>T	15	55790414	55790414	G	T	DNAAF4	c.114C>A	NM_130810.4	NP_570722.2:p.(Asn38Lys)	NC_000015.9:g.55790414G>T	(Likely) benign	1 lab	7ea2def2cf
14:59113795 DACT1 CAAG>C	14	59113795	59113805	CAAG	C	DACT1	c.2351_2353del	NM_001079520.2	NP_001072988.1:p.(Lys784del)	NC_000014.8:g.59113803_59113805del	(Likely) benign	1 lab	7ea35c185e
17:45360907 ITGB3 T>A	17	45360907	45360907	T	A	ITGB3	c.353T>A	NM_000212.3	NP_000203.2:p.(Leu118His)	NC_000017.10:g.45360907T>A	(Likely) pathogenic	1 lab	7ea3723272
14:105617015 JAG2 C>T	14	105617015	105617015	C	T	JAG2	c.1528G>A	NM_002226.5	NP_002217.3:p.(Gly510Ser)	NC_000014.8:g.105617015C>T	VUS	1 lab	7ea3b9740e
11:17428558 ABCC8 C>T	11	17428558	17428558	C	T	ABCC8	c.3039G>A	NM_000352.6	NP_000343.2:p.(Ser1013=)	NC_000011.9:g.17428558C>T	(Likely) benign	1 lab	7ea52bc12f
1:7724817 CAMTA1 C>T	1	7724817	7724817	C	T	CAMTA1	c.2210C>T	NM_015215.4	NP_056030.1:p.(Pro737Leu)	NC_000001.10:g.7724817C>T	(Likely) benign	1 lab	7ea6024069
9:13107088 MPDZ C>T	9	13107088	13107088	C	T	MPDZ	c.6089G>A	NM_001378778.1	NP_001365707.1:p.(Arg2030His)	NC_000009.11:g.13107088C>T	VUS	1 lab	7ea63f3dda
15:89381991 ACAN C>T	15	89381991	89381991	C	T	ACAN	c.168C>T	NM_001369268.1	NP_001356197.1:p.(Pro56=)	NC_000015.9:g.89381991C>T	(Likely) benign	1 lab	7ea7c4a7ec
2:32476440 NLRC4 A>G	2	32476440	32476440	A	G	NLRC4	c.493T>C	NM_001199138.2	NP_001186067.1:p.(Cys165Arg)	NC_000002.11:g.32476440A>G	VUS	1 lab	7ea8280e26
4:6303240 WFS1 T>C	4	6303240	6303240	T	C	WFS1	c.1718T>C	NM_006005.3	NP_005996.2:p.(Leu573Pro)	NC_000004.11:g.6303240T>C	VUS	1 lab	7ea87958b5
13:77825359 MYCBP2 T>C	13	77825359	77825359	T	C	MYCBP2	c.2308A>G	NM_015057.5	NP_055872.4:p.(Thr770Ala)	NC_000013.10:g.77825359T>C	VUS	1 lab	7ea9962cc2
11:800752 PIDD1 G>A	11	800752	800752	G	A	PIDD1	c.1917+10C>T	NM_145886.4	NP_665893.2:p.?	NC_000011.9:g.800752G>A	(Likely) benign	1 lab	7eabedba89
17:7534934 SHBG C>T	17	7534934	7534934	C	T	SHBG	c.583C>T	NM_001040.5	NP_001031.2:p.(Arg195Cys)	NC_000017.10:g.7534934C>T	VUS	1 lab	7eaca53fd7
11:2182135 INS C>T	11	2182135	2182135	C	T	INS	c.67G>A	NM_000207.3	NP_000198.1:p.(Ala23Thr)	NC_000011.9:g.2182135C>T	(Likely) benign	1 lab	7eacf7a69c
21:38468938 TTC3 GT>G	21	38468938	38468941	GT	G	TTC3	c.843del	NM_001330683.2	NP_001317612.1:p.(Phe281LeufsTer14)	NC_000021.8:g.38468941del	VUS	1 lab	7ead27edf6
10:64946031 JMJD1C C>T	10	64946031	64946031	C	T	JMJD1C	c.6683G>A	NM_032776.3	NP_116165.1:p.(Ser2228Asn)	NC_000010.10:g.64946031C>T	(Likely) benign	1 lab	7ead891e8b
19:18897407 COMP CCTT>C	19	18897407	18897412	CCTT	C	COMP	c.1186_1188del	NM_000095.3	NP_000086.2:p.(Lys396del)	NC_000019.9:g.18897410_18897412del	VUS	1 lab	7eaee7008f
16:53674945 RPGRIP1L A>G	16	53674945	53674945	A	G	RPGRIP1L	c.2958T>C	NM_015272.5	NP_056087.2:p.(Asp986=)	NC_000016.9:g.53674945A>G	(Likely) benign	1 lab	7eaff06fd5
1:1459352 ATAD3A C>T	1	1459352	1459352	C	T	ATAD3A	c.1089+8C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1459352C>T	(Likely) benign	1 lab	7eb0651cd0
9:135944591 CEL G>A	9	135944591	135944591	G	A	CEL	c.1231G>A	NM_001807.6	NP_001798.3:p.(Val411Ile)	NC_000009.11:g.135944591G>A	(Likely) benign	1 lab	7eb166681f
X:108938535 ACSL4 C>T	X	108938535	108938535	C	T	ACSL4	c.-13+838G>A	NM_001318510.2	NP_001305439.1:p.?	NC_000023.10:g.108938535C>T	(Likely) benign	1 lab	7eb2a0795c
11:73817411 C2CD3 C>T	11	73817411	73817411	C	T	C2CD3	c.2085+5G>A	NM_001286577.2	NP_001273506.1:p.?	NC_000011.9:g.73817411C>T	VUS	1 lab	7eb2df3333
8:61655414 CHD7 A>G	8	61655414	61655414	A	G	CHD7	c.1423A>G	NM_017780.4	NP_060250.2:p.(Met475Val)	NC_000008.10:g.61655414A>G	(Likely) benign	1 lab	7eb5debf7b
10:31809032 ZEB1 ATTTG>A	10	31809032	31809051	ATTTG	A	ZEB1	c.794-6_794-3del	NM_001174096.2	NP_001167567.1:p.?	NC_000010.10:g.31809048_31809051del	(Likely) benign	1 lab	7eb61ee898
2:182542599 NEUROD1 ATG>A	2	182542599	182542601	ATG	A	NEUROD1	c.987_988del	NM_002500.5	NP_002491.3:p.(Ile330ArgfsTer8)	NC_000002.11:g.182542600_182542601del	VUS	1 lab	7eb7628b49
16:89348420 ANKRD11 C>T	16	89348420	89348420	C	T	ANKRD11	c.4530G>A	NM_013275.6	NP_037407.4:p.(Pro1510=)	NC_000016.9:g.89348420C>T	(Likely) benign	1 lab	23e05611de
21:46911184 COL18A1 C>A	21	46911184	46911184	C	A	COL18A1	c.2113C>A	NM_001379500.1	NP_001366429.1:p.(Pro705Thr)	NC_000021.8:g.46911184C>A	VUS	1 lab	7ebb7583ed
1:226027735 EPHX1 G>A	1	226027735	226027735	G	A	EPHX1	c.928G>A	NM_001136018.4	NP_001129490.1:p.(Val310Ile)	NC_000001.10:g.226027735G>A	(Likely) benign	1 lab	7ebeb76592
X:114425895 RBMXL3 G>C	X	114425895	114425895	G	C	RBMXL3	c.1891G>C	NM_001145346.2	NP_001138818.1:p.(Glu631Gln)	NC_000023.10:g.114425895G>C	VUS	1 lab	7ebf980b2a
17:79862787 PCYT2 T>A	17	79862787	79862787	T	A	PCYT2	c.1092A>T	NM_002861.5	NP_002852.1:p.(Glu364Asp)	NC_000017.10:g.79862787T>A	VUS	1 lab	7ec1a2d900
5:140229435 PCDHA1 C>A	5	140229435	140229435	C	A	PCDHA1	c.2394+61166C>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140229435C>A	VUS	1 lab	7ec396fcd9
X:84363457 SATL1 G>A	X	84363457	84363457	G	A	SATL1	c.518C>T	NM_001367857.2	NP_001354786.1:p.(Thr173Ile)	NC_000023.10:g.84363457G>A	(Likely) benign	1 lab	7ec51becaf
1:235602241 TBCE C>T	1	235602241	235602241	C	T	TBCE	c.1270+4C>T	NM_003193.5	NP_003184.1:p.?	NC_000001.10:g.235602241C>T	(Likely) benign	1 lab	7ec597f8c2
6:117198661 RFX6 G>A	6	117198661	117198661	G	A	RFX6	c.223G>A	NM_173560.4	NP_775831.2:p.(Glu75Lys)	NC_000006.11:g.117198661G>A	VUS	1 lab	7ec6754f79
9:140094490 TPRN T>G	9	140094490	140094490	T	G	TPRN	c.674A>C	NM_001128228.3	NP_001121700.2:p.(His225Pro)	NC_000009.11:g.140094490T>G	(Likely) benign	1 lab	7ec689b8fb
10:90699258 ACTA2 G>A	10	90699258	90699258	G	A	ACTA2	c.808+6C>T	NM_001613.4	NP_001604.1:p.?	NC_000010.10:g.90699258G>A	(Likely) benign	1 lab	7ec6edfc07
19:54673250 TMC4 C>T	19	54673250	54673250	C	T	TMC4	c.442G>A	NM_144686.4	NP_653287.2:p.(Gly148Ser)	NC_000019.9:g.54673250C>T	VUS	1 lab	7ec7c6345c
11:10791787 CTR9 C>T	11	10791787	10791787	C	T	CTR9	c.2140C>T	NM_014633.5	NP_055448.1:p.(His714Tyr)	NC_000011.9:g.10791787C>T	(Likely) benign	1 lab	7eca1ce37b
19:1615698 TCF3 G>A	19	1615698	1615698	G	A	TCF3	c.1573C>T	NM_003200.5	NP_003191.1:p.(Arg525Trp)	NC_000019.9:g.1615698G>A	VUS	1 lab	23e7af1ac7
5:140255760 PCDHA1 G>A	5	140255760	140255760	G	A	PCDHA1	c.2394+87491G>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140255760G>A	(Likely) benign	1 lab	7ecc58ace1
2:65559131 SPRED2 T>C	2	65559131	65559131	T	C	SPRED2	c.428A>G	NM_181784.3	NP_861449.2:p.(Asp143Gly)	NC_000002.11:g.65559131T>C	VUS	1 lab	7ecc8574df
7:44189389 GCK C>T	7	44189389	44189389	C	T	GCK	c.649G>A	NM_000162.5	NP_000153.1:p.(Asp217Asn)	NC_000007.13:g.44189389C>T	VUS	1 lab	7eccac1d13
6:136599306 BCLAF1 T>C	6	136599306	136599306	T	C	BCLAF1	c.713A>G	NM_014739.3	NP_055554.1:p.(Gln238Arg)	NC_000006.11:g.136599306T>C	VUS	1 lab	7eccc636cb
2:220427190 OBSL1 C>T	2	220427190	220427190	C	T	OBSL1	c.2887G>A	NM_015311.3	NP_056126.1:p.(Glu963Lys)	NC_000002.11:g.220427190C>T	(Likely) benign	1 lab	7ecd38dc48
19:18277007 PIK3R2 A>G	19	18277007	18277007	A	G	PIK3R2	c.1454A>G	NM_005027.4	NP_005018.2:p.(Asn485Ser)	NC_000019.9:g.18277007A>G	VUS	1 lab	7ed08b59b6
22:50728427 PLXNB2 G>A	22	50728427	50728427	G	A	PLXNB2	c.587C>T	NM_012401.4	NP_036533.2:p.(Ala196Val)	NC_000022.10:g.50728427G>A	(Likely) benign	1 lab	7ed0fa2fe8
12:32890853 DNM1L G>A	12	32890853	32890853	G	A	DNM1L	c.1651G>A	NM_012062.5	NP_036192.2:p.(Ala551Thr)	NC_000012.11:g.32890853G>A	VUS	1 lab	7ed1941b7e
14:57051753 TMEM260 A>G	14	57051753	57051753	A	G	TMEM260	c.192+3A>G	NM_017799.4	NP_060269.3:p.?	NC_000014.8:g.57051753A>G	(Likely) benign	1 lab	7ed232ef5f
17:8722448 PIK3R6 C>T	17	8722448	8722448	C	T	PIK3R6	c.1948G>A	NM_001010855.4	NP_001010855.1:p.(Val650Met)	NC_000017.10:g.8722448C>T	VUS	1 lab	7ed6b2c37c
15:33923461 RYR3 A>G	15	33923461	33923461	A	G	RYR3	c.2834A>G	NM_001036.6	NP_001027.3:p.(Glu945Gly)	NC_000015.9:g.33923461A>G	VUS	1 lab	7ed7e193b0
2:233350870 ECEL1 A>G	2	233350870	233350870	A	G	ECEL1	c.494T>C	NM_004826.4	NP_004817.2:p.(Leu165Pro)	NC_000002.11:g.233350870A>G	(Likely) pathogenic	1 lab	7ed94d357f
17:73951684 ACOX1 C>T	17	73951684	73951684	C	T	ACOX1	c.737G>A	NM_004035.7	NP_004026.2:p.(Arg246His)	NC_000017.10:g.73951684C>T	VUS	1 lab	7eda192ea7
15:44202141 FRMD5 G>T	15	44202141	44202141	G	T	FRMD5	c.366C>A	NM_032892.5	NP_116281.2:p.(Tyr122Ter)	NC_000015.9:g.44202141G>T	VUS	1 lab	23eb074855
1:40775660 COL9A2 C>T	1	40775660	40775660	C	T	COL9A2	c.796G>A	NM_001852.4	NP_001843.1:p.(Glu266Lys)	NC_000001.10:g.40775660C>T	VUS	1 lab	7edfecebde
19:39018360 RYR1 A>G	19	39018360	39018360	A	G	RYR1	c.10760A>G	NM_000540.3	NP_000531.2:p.(Asp3587Gly)	NC_000019.9:g.39018360A>G	VUS	1 lab	7ee0dae063
12:122257526 SETD1B A>G	12	122257526	122257526	A	G	SETD1B	c.3635A>G	NM_001353345.2	NP_001340274.1:p.(Asp1212Gly)	NC_000012.11:g.122257526A>G	(Likely) benign	1 lab	7ee1c8d582
14:81609598 TSHR C>T	14	81609598	81609598	C	T	TSHR	c.1196C>T	NM_000369.5	NP_000360.2:p.(Thr399Ile)	NC_000014.8:g.81609598C>T	VUS	1 lab	7ee26ca6c2
16:58621153 CNOT1 A>G	16	58621153	58621153	A	G	CNOT1	c.385T>C	NM_016284.5	NP_057368.3:p.(Phe129Leu)	NC_000016.9:g.58621153A>G	VUS	1 lab	7ee3e2a8b7
8:100568820 VPS13B G>T	8	100568820	100568820	G	T	VPS13B	c.4888G>T	NM_152564.5	NP_689777.3:p.(Val1630Leu)	NC_000008.10:g.100568820G>T	(Likely) benign	1 lab	7ee3fe5b19
20:43031199 HNF4A G>T	20	43031199	43031199	G	T	HNF4A	c.115+1072G>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43031199G>T	(Likely) benign	1 lab	7ee4250db7
22:24911281 UPB1 A>G	22	24911281	24911281	A	G	UPB1	c.734A>G	NM_016327.3	NP_057411.1:p.(Tyr245Cys)	NC_000022.10:g.24911281A>G	VUS	1 lab	7ee52cd1b2
12:14834386 GUCY2C C>T	12	14834386	14834386	C	T	GUCY2C	c.637G>A	NM_004963.4	NP_004954.2:p.(Val213Ile)	NC_000012.11:g.14834386C>T	VUS	1 lab	7ee5447c3b
9:101787280 COL15A1 C>A	9	101787280	101787280	C	A	COL15A1	c.1979C>A	NM_001855.5	NP_001846.3:p.(Pro660Gln)	NC_000009.11:g.101787280C>A	(Likely) benign	1 lab	7ee5631850
16:1486091 CCDC154 T>C	16	1486091	1486091	T	C	CCDC154	c.1488-4A>G	NM_001143980.3	NP_001137452.1:p.?	NC_000016.9:g.1486091T>C	(Likely) benign	1 lab	7ee5beec94
15:99486276 IGF1R C>T	15	99486276	99486276	C	T	IGF1R	c.3582C>T	NM_000875.5	NP_000866.1:p.(Asp1194=)	NC_000015.9:g.99486276C>T	(Likely) benign	1 lab	7ee5e18d4b
5:137763755 KDM3B G>T	5	137763755	137763755	G	T	KDM3B	c.4733G>T	NM_016604.4	NP_057688.3:p.(Gly1578Val)	NC_000005.9:g.137763755G>T	VUS	1 lab	7ee6428c2b
19:50909709 POLD1 G>A	19	50909709	50909709	G	A	POLD1	c.1429G>A	NM_001308632.1	NP_001295561.1:p.(Val477Met)	NC_000019.9:g.50909709G>A	VUS	1 lab	23efd4eda8
12:121435392 HNF1A G>A	12	121435392	121435392	G	A	HNF1A	c.1425G>A	NM_000545.8	NP_000536.6:p.(Pro475=)	NC_000012.11:g.121435392G>A	(Likely) benign	1 lab	7ee9662b52
1:11217226 MTOR G>A	1	11217226	11217226	G	A	MTOR	c.4452C>T	NM_004958.4	NP_004949.1:p.(Leu1484=)	NC_000001.10:g.11217226G>A	(Likely) benign	1 lab	7ee9d1e5de
22:22317271 TOP3B AC>A	22	22317271	22317272	AC	A	TOP3B	c.1205-7del	NM_001282112.2	NP_001269041.1:p.?	NC_000022.10:g.22317272del	(Likely) benign	1 lab	7eea0f2b78
13:35517100 NBEA C>T	13	35517100	35517100	C	T	NBEA	c.143C>T	NM_001385012.1	NP_001371941.1:p.(Ala48Val)	NC_000013.10:g.35517100C>T	(Likely) benign	1 lab	7eebbc0d54
X:75003562 MAGEE2 C>T	X	75003562	75003562	C	T	MAGEE2	c.1325G>A	NM_138703.5	NP_619648.1:p.(Arg442His)	NC_000023.10:g.75003562C>T	VUS	1 lab	7eec3ac9e5
15:89400163 ACAN C>T	15	89400163	89400163	C	T	ACAN	c.4347C>T	NM_001369268.1	NP_001356197.1:p.(Ser1449=)	NC_000015.9:g.89400163C>T	VUS	1 lab	7eed4718aa
11:69999166 ANO1 C>T	11	69999166	69999166	C	T	ANO1	c.1357C>T	NM_018043.7	NP_060513.5:p.(His453Tyr)	NC_000011.9:g.69999166C>T	VUS	1 lab	7eef6845b2
1:227128108 COQ8A T>C	1	227128108	227128108	T	C	COQ8A	c.-10+8T>C	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227128108T>C	(Likely) benign	1 lab	7eef7149a2
17:62488845 POLG2 G>A	17	62488845	62488845	G	A	POLG2	c.734C>T	NM_007215.4	NP_009146.2:p.(Pro245Leu)	NC_000017.10:g.62488845G>A	VUS	1 lab	7ef0ffd2b9
12:121416787 HNF1A C>T	12	121416787	121416787	C	T	HNF1A	c.216C>T	NM_000545.8	NP_000536.6:p.(Asp72=)	NC_000012.11:g.121416787C>T	(Likely) benign	1 lab	7ef12b6f43
20:60888231 LAMA5 G>A	20	60888231	60888231	G	A	LAMA5	c.8868C>T	NM_005560.6	NP_005551.3:p.(Phe2956=)	NC_000020.10:g.60888231G>A	(Likely) benign	1 lab	7ef19530da
16:89574832 SPG7 G>GTGC	16	89574832	89574848	G	GTGC	SPG7	c.21_23dup	NM_003119.4	NP_003110.1:p.(Leu8dup)	NC_000016.9:g.89574846_89574848dup	VUS	1 lab	7ef294dd09
6:35213204 SCUBE3 T>C	6	35213204	35213204	T	C	SCUBE3	c.2599+2T>C	NM_152753.4	NP_689966.2:p.?	NC_000006.11:g.35213204T>C	(Likely) pathogenic	1 lab	7ef4cee90a
3:49055133 DALRD3 C>T	3	49055133	49055133	C	T	DALRD3	c.631G>A	NM_001009996.3	NP_001009996.1:p.(Gly211Ser)	NC_000003.11:g.49055133C>T	VUS	1 lab	7ef558b93c
14:91772099 CCDC88C C>T	14	91772099	91772099	C	T	CCDC88C	c.3357+10G>A	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91772099C>T	VUS	1 lab	7efa2181b2
10:73574920 CDH23 C>A	10	73574920	73574920	C	A	CDH23	c.9950C>A	NM_022124.6	NP_071407.4:p.(Ala3317Asp)	NC_000010.10:g.73574920C>A	VUS	1 lab	7efa25ce3d
16:2141137 PKD1 G>A	16	2141137	2141137	G	A	PKD1	c.11751C>T	NM_001009944.3	NP_001009944.3:p.(Ala3917=)	NC_000016.9:g.2141137G>A	(Likely) benign	1 lab	7efb82bf2c
14:102494586 DYNC1H1 T>C	14	102494586	102494586	T	C	DYNC1H1	c.9468+108T>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102494586T>C	(Likely) benign	1 lab	256f602853
2:220420898 OBSL1 G>A	2	220420898	220420898	G	A	OBSL1	c.4453C>T	NM_015311.3	NP_056126.1:p.(Arg1485Ter)	NC_000002.11:g.220420898G>A	VUS	1 lab	7efd45689e
19:54656064 CNOT3 T>G	19	54656064	54656064	T	G	CNOT3	c.1705+2T>G	NM_014516.4	NP_055331.1:p.?	NC_000019.9:g.54656064T>G	(Likely) pathogenic	1 lab	7efd927ce0
1:222904842 BROX G>A	1	222904842	222904842	G	A	BROX	c.1133G>A	NM_144695.4	NP_653296.2:p.(Arg378Lys)	NC_000001.10:g.222904842G>A	(Likely) benign	1 lab	7eff5e459d
15:43027722 CDAN1 G>T	15	43027722	43027722	G	T	CDAN1	c.929C>A	NM_138477.4	NP_612486.2:p.(Ser310Tyr)	NC_000015.9:g.43027722G>T	VUS	1 lab	7eff6a0c60
6:35420375 FANCE C>T	6	35420375	35420375	C	T	FANCE	c.53C>T	NM_021922.3	NP_068741.1:p.(Pro18Leu)	NC_000006.11:g.35420375C>T	(Likely) benign	1 lab	7eff77fb35
2:152472617 NEB A>T	2	152472617	152472617	A	T	NEB	c.11188T>A	NM_001164508.2	NP_001157980.2:p.(Tyr3730Asn)	NC_000002.11:g.152472617A>T	VUS	1 lab	7f00f97e9a
7:51203965 COBL G>A	7	51203965	51203965	G	A	COBL	c.847C>T	NM_015198.5	NP_056013.2:p.(Leu283Phe)	NC_000007.13:g.51203965G>A	(Likely) benign	1 lab	7f011c81a2
19:18182028 IL12RB1 C>CA	19	18182028	18182032	C	CA	IL12RB1	c.1021+893dup	NM_005535.3	NP_005526.1:p.?	NC_000019.9:g.18182032dup	VUS	1 lab	7f023bbe7d
1:248129173 OR2AK2 G>A	1	248129173	248129173	G	A	OR2AK2	c.495G>A	NM_001004491.2	NP_001004491.2:p.(Gln165=)	NC_000001.10:g.248129173G>A	(Likely) benign	1 lab	7f025b960b
11:76925033 MYO7A G>T	11	76925033	76925033	G	T	MYO7A	c.6558+9G>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76925033G>T	(Likely) benign	1 lab	7f028fbf61
5:180043398 FLT4 T>C	5	180043398	180043398	T	C	FLT4	c.3188A>G	NM_182925.5	NP_891555.2:p.(Tyr1063Cys)	NC_000005.9:g.180043398T>C	VUS	1 lab	7f03092420
5:42711416 GHR G>C	5	42711416	42711416	G	C	GHR	c.726G>C	NM_000163.5	NP_000154.1:p.(Glu242Asp)	NC_000005.9:g.42711416G>C	VUS	1 lab	7f0347f4d4
3:136060314 STAG1 T>C	3	136060314	136060314	T	C	STAG1	c.3526A>G	NM_005862.3	NP_005853.2:p.(Met1176Val)	NC_000003.11:g.136060314T>C	VUS	1 lab	7f05dbac98
10:79795376 RPS24 A>G	10	79795376	79795376	A	G	RPS24	c.177A>G	NM_033022.4	NP_148982.1:p.(Gly59=)	NC_000010.10:g.79795376A>G	(Likely) benign	1 lab	7f05fc74b2
11:31804950 ELP4 T>C	11	31804950	31804950	T	C	ELP4	c.1153T>C	NM_019040.5	NP_061913.3:p.(Leu385=)	NC_000011.9:g.31804950T>C	(Likely) benign	1 lab	7f079fe076
8:144992711 PLEC G>A	8	144992711	144992711	G	A	PLEC	c.11278C>T	NM_201384.3	NP_958786.1:p.(Arg3760Cys)	NC_000008.10:g.144992711G>A	VUS	1 lab	7f07c9f833
19:41893466 EXOSC5 G>A	19	41893466	41893466	G	A	EXOSC5	c.568C>T	NM_020158.4	NP_064543.3:p.(Arg190Trp)	NC_000019.9:g.41893466G>A	VUS	1 lab	23f285b59d
13:39262119 FREM2 C>T	13	39262119	39262119	C	T	FREM2	c.638C>T	NM_207361.6	NP_997244.4:p.(Thr213Ile)	NC_000013.10:g.39262119C>T	(Likely) benign	1 lab	7f0a38ee4e
16:68002391 SLC12A4 C>A	16	68002391	68002391	C	A	SLC12A4	c.66G>T	NM_005072.5	NP_005063.1:p.(Gly22=)	NC_000016.9:g.68002391C>A	(Likely) benign	1 lab	7f0af47881
2:113331367 POLR1B G>A	2	113331367	113331367	G	A	POLR1B	c.2500G>A	NM_019014.6	NP_061887.2:p.(Gly834Arg)	NC_000002.11:g.113331367G>A	(Likely) benign	1 lab	7f0c550d00
21:47421998 COL6A1 G>A	21	47421998	47421998	G	A	COL6A1	c.2066+14G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421998G>A	(Likely) benign	1 lab	7f0d16b50b
X:27766888 DCAF8L2 G>C	X	27766888	27766888	G	C	DCAF8L2	c.1876G>C	NM_001353450.2	NP_001340379.1:p.(Val626Leu)	NC_000023.10:g.27766888G>C	(Likely) benign	1 lab	7f0e79dcdf
15:23006299 NIPA2 T>TTCA	15	23006299	23006303	T	TTCA	NIPA2	c.1002_1004dup	NM_030922.7	NP_112184.4:p.(Asn334_Glu335insAsp)	NC_000015.9:g.23006301_23006303dup	(Likely) benign	1 lab	7f10e391c9
11:46905424 LRP4 G>A	11	46905424	46905424	G	A	LRP4	c.2610C>T	NM_002334.4	NP_002325.2:p.(Gly870=)	NC_000011.9:g.46905424G>A	VUS	1 lab	7f1111ce8e
2:212589910 ERBB4 G>A	2	212589910	212589910	G	A	ERBB4	c.632C>T	NM_005235.3	NP_005226.1:p.(Thr211Met)	NC_000002.11:g.212589910G>A	VUS	1 lab	7f11e7c7df
6:116441915 COL10A1 C>A	6	116441915	116441915	C	A	COL10A1	c.1364G>T	NM_000493.4	NP_000484.2:p.(Gly455Val)	NC_000006.11:g.116441915C>A	(Likely) benign	1 lab	7f13ffe9c7
17:10550730 MYH3 C>T	17	10550730	10550730	C	T	MYH3	c.749G>A	NM_002470.4	NP_002461.2:p.(Arg250Gln)	NC_000017.10:g.10550730C>T	VUS	1 lab	7f14961780
5:176586978 NSD1 C>A	5	176586978	176586978	C	A	NSD1	c.927+23947C>A	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176586978C>A	(Likely) benign	1 lab	7f15f2e20d
3:135980857 PCCB C>T	3	135980857	135980857	C	T	PCCB	c.493C>T	NM_000532.5	NP_000523.2:p.(Arg165Trp)	NC_000003.11:g.135980857C>T	(Likely) pathogenic	1 lab	7f182e712e
1:100380941 AGL C>G	1	100380941	100380941	C	G	AGL	c.4162-4C>G	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100380941C>G	VUS	1 lab	7f18432bad
20:2378586 TGM6 T>A	20	2378586	2378586	T	A	TGM6	c.566T>A	NM_198994.3	NP_945345.2:p.(Ile189Asn)	NC_000020.10:g.2378586T>A	VUS	1 lab	7f1958013d
8:107371870 OXR1 T>G	8	107371870	107371870	T	G	OXR1	c.23+6T>G	NM_001198533.2	NP_001185462.1:p.?	NC_000008.10:g.107371870T>G	VUS	1 lab	7f19e8495f
20:9319600 PLCB4 G>A	20	9319600	9319600	G	A	PLCB4	c.285G>A	NM_001377142.1	NP_001364071.1:p.(Gly95=)	NC_000020.10:g.9319600G>A	(Likely) benign	1 lab	7f1a51e879
19:41131856 LTBP4 C>T	19	41131856	41131856	C	T	LTBP4	c.3927C>T	NM_001042545.2	NP_001036010.1:p.(Cys1309=)	NC_000019.9:g.41131856C>T	(Likely) benign	1 lab	7f1d1ab8a6
6:56470551 DST T>A	6	56470551	56470551	T	A	DST	c.5184+4674A>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56470551T>A	(Likely) benign	1 lab	23f42cc4a4
15:89836299 FANCI G>A	15	89836299	89836299	G	A	FANCI	c.2291+5G>A	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89836299G>A	VUS	1 lab	7f2224ef54
X:31227790 DMD A>C	X	31227790	31227790	A	C	DMD	c.9388T>G	NM_004006.3	NP_003997.2:p.(Cys3130Gly)	NC_000023.10:g.31227790A>C	(Likely) benign	1 lab	7f226316bd
2:233346337 ECEL1 C>G	2	233346337	233346337	C	G	ECEL1	c.1868G>C	NM_004826.4	NP_004817.2:p.(Gly623Ala)	NC_000002.11:g.233346337C>G	VUS	1 lab	7f229e635d
17:7123990 ACADVL C>A	17	7123990	7123990	C	A	ACADVL	c.272C>A	NM_000018.4	NP_000009.1:p.(Pro91Gln)	NC_000017.10:g.7123990C>A	VUS	1 lab	7f22f1f59b
2:179612311 TTN TC>T	2	179612311	179612313	TC	T	TTN	c.11311+5539del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612313del	VUS	1 lab	7f25c099fc
16:67671707 CTCF C>T	16	67671707	67671707	C	T	CTCF	c.2116C>T	NM_006565.4	NP_006556.1:p.(Pro706Ser)	NC_000016.9:g.67671707C>T	(Likely) benign	1 lab	7f26c18603
2:183817659 NCKAP1 G>A	2	183817659	183817659	G	A	NCKAP1	c.2373-8C>T	NM_013436.5	NP_038464.1:p.?	NC_000002.11:g.183817659G>A	(Likely) benign	1 lab	7f2795c5eb
3:9495547 SETD5 A>G	3	9495547	9495547	A	G	SETD5	c.2471A>G	NM_001080517.3	NP_001073986.1:p.(Asn824Ser)	NC_000003.11:g.9495547A>G	(Likely) benign	1 lab	7f28d50802
14:105849743 PACS2 C>T	14	105849743	105849743	C	T	PACS2	c.1673C>T	NM_001100913.3	NP_001094383.2:p.(Ala558Val)	NC_000014.8:g.105849743C>T	(Likely) benign	1 lab	7f291be7ab
3:57312908 ASB14 T>C	3	57312908	57312908	T	C	ASB14	c.928A>G	NM_001142733.3	NP_001136205.2:p.(Ile310Val)	NC_000003.11:g.57312908T>C	VUS	1 lab	7f29d8a9df
20:16348166 KIF16B G>A	20	16348166	16348166	G	A	KIF16B	c.3498+3065C>T	NM_024704.5	NP_078980.3:p.?	NC_000020.10:g.16348166G>A	VUS	1 lab	7f2a257905
2:176957639 HOXD13 G>A	2	176957639	176957639	G	A	HOXD13	c.21G>A	NM_000523.4	NP_000514.2:p.(Trp7Ter)	NC_000002.11:g.176957639G>A	VUS	1 lab	7f2c05ced4
4:1806059 FGFR3 G>A	4	1806059	1806059	G	A	FGFR3	c.1078G>A	NM_000142.5	NP_000133.1:p.(Glu360Lys)	NC_000004.11:g.1806059G>A	VUS	1 lab	7f2ef70e30
17:1419762 INPP5K C>T	17	1419762	1419762	C	T	INPP5K	c.32G>A	NM_016532.4	NP_057616.2:p.(Gly11Asp)	NC_000017.10:g.1419762C>T	(Likely) benign	1 lab	7f2f47e54b
1:98144733 DPYD A>C	1	98144733	98144733	A	C	DPYD	c.768T>G	NM_000110.4	NP_000101.2:p.(Ile256Met)	NC_000001.10:g.98144733A>C	VUS	1 lab	7f30e93c60
12:133252318 POLE C>G	12	133252318	133252318	C	G	POLE	c.1106+3G>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133252318C>G	VUS	1 lab	7f32e707d5
X:103359334 SLC25A53 C>T	X	103359334	103359334	C	T	SLC25A53	c.-31-9363G>A	NM_001012755.5	NP_001012773.2:p.?	NC_000023.10:g.103359334C>T	(Likely) benign	1 lab	7f3339e472
8:68137193 ARFGEF1 T>A	8	68137193	68137193	T	A	ARFGEF1	c.4153A>T	NM_006421.5	NP_006412.2:p.(Ile1385Phe)	NC_000008.10:g.68137193T>A	VUS	1 lab	23f4cbe885
14:100795978 SLC25A47 C>T	14	100795978	100795978	C	T	SLC25A47	c.923C>T	NM_207117.4	NP_997000.2:p.(Thr308Ile)	NC_000014.8:g.100795978C>T	(Likely) benign	1 lab	7f34bd6082
X:129480671 SLC25A14 A>G	X	129480671	129480671	A	G	SLC25A14	c.317+6A>G	NM_001282195.2	NP_001269124.1:p.?	NC_000023.10:g.129480671A>G	(Likely) benign	1 lab	7f3541f161
5:58270742 PDE4D G>A	5	58270742	58270742	G	A	PDE4D	c.2179C>T	NM_001104631.2	NP_001098101.1:p.(Arg727Trp)	NC_000005.9:g.58270742G>A	VUS	1 lab	7f356c3387
4:2831756 SH3BP2 G>A	4	2831756	2831756	G	A	SH3BP2	c.1123G>A	NM_001122681.2	NP_001116153.1:p.(Gly375Arg)	NC_000004.11:g.2831756G>A	(Likely) benign	1 lab	7f35b65e15
2:212589875 ERBB4 C>T	2	212589875	212589875	C	T	ERBB4	c.667G>A	NM_005235.3	NP_005226.1:p.(Gly223Arg)	NC_000002.11:g.212589875C>T	VUS	1 lab	7f36a8c664
5:180035995 FLT4 C>G	5	180035995	180035995	C	G	FLT4	c.3866G>C	NM_182925.5	NP_891555.2:p.(Ser1289Thr)	NC_000005.9:g.180035995C>G	VUS	1 lab	7f3791efcc
17:80037289 FASN C>T	17	80037289	80037289	C	T	FASN	c.7342G>A	NM_004104.5	NP_004095.4:p.(Ala2448Thr)	NC_000017.10:g.80037289C>T	VUS	1 lab	7f37bf9f14
17:78264454 RNF213 G>C	17	78264454	78264454	G	C	RNF213	c.1198G>C	NM_001256071.3	NP_001243000.2:p.(Val400Leu)	NC_000017.10:g.78264454G>C	(Likely) benign	1 lab	7f38c7e813
9:140356449 PNPLA7 G>GC	9	140356449	140356453	G	GC	PNPLA7	c.3689dup	NM_001098537.3	NP_001092007.2:p.(Arg1231ProfsTer42)	NC_000009.11:g.140356453dup	(Likely) benign	1 lab	7f38e9c92e
3:12660100 RAF1 G>A	3	12660100	12660100	G	A	RAF1	c.121C>T	NM_002880.4	NP_002871.1:p.(Arg41Trp)	NC_000003.11:g.12660100G>A	VUS	1 lab	7f38ff90fa
20:60897796 LAMA5 C>T	20	60897796	60897796	C	T	LAMA5	c.6083G>A	NM_005560.6	NP_005551.3:p.(Cys2028Tyr)	NC_000020.10:g.60897796C>T	VUS	1 lab	7f39a74ee2
6:147013954 ADGB T>C	6	147013954	147013954	T	C	ADGB	c.1487-7T>C	NM_024694.4	NP_078970.3:p.?	NC_000006.11:g.147013954T>C	VUS	1 lab	7f39c05eef
16:2161304 PKD1 G>T	16	2161304	2161304	G	T	PKD1	c.3864C>A	NM_001009944.3	NP_001009944.3:p.(His1288Gln)	NC_000016.9:g.2161304G>T	VUS	1 lab	7f3a9e8ff0
X:77225017 ATP7A C>T	X	77225017	77225017	C	T	ATP7A	c.-21-2101C>T	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77225017C>T	VUS	1 lab	7f3c1460b2
10:49917886 WDFY4 T>C	10	49917886	49917886	T	C	WDFY4	c.109T>C	NM_001394531.1	NP_001381460.1:p.(Ser37Pro)	NC_000010.10:g.49917886T>C	(Likely) benign	1 lab	7f3c836aea
14:21859731 CHD8 T>C	14	21859731	21859731	T	C	CHD8	c.6956A>G	NM_001170629.2	NP_001164100.1:p.(Asn2319Ser)	NC_000014.8:g.21859731T>C	(Likely) benign	1 lab	7f3c9b3999
6:101054639 ASCC3 C>T	6	101054639	101054639	C	T	ASCC3	c.5021G>A	NM_006828.4	NP_006819.2:p.(Arg1674His)	NC_000006.11:g.101054639C>T	VUS	1 lab	7f3db84be7
13:94197639 GPC6 G>A	13	94197639	94197639	G	A	GPC6	c.284G>A	NM_005708.5	NP_005699.1:p.(Arg95His)	NC_000013.10:g.94197639G>A	VUS	1 lab	7f3e0704a9
2:135476295 TMEM163 C>T	2	135476295	135476295	C	T	TMEM163	c.202+9G>A	NM_030923.5	NP_112185.1:p.?	NC_000002.11:g.135476295C>T	(Likely) benign	1 lab	7f3e083134
9:4117910 GLIS3 T>A	9	4117910	4117910	T	A	GLIS3	c.1568A>T	NM_001042413.2	NP_001035878.1:p.(Lys523Met)	NC_000009.11:g.4117910T>A	VUS	1 lab	7f3ef1b29b
17:1629073 WDR81 T>A	17	1629073	1629073	T	A	WDR81	c.820T>A	NM_001163809.2	NP_001157281.1:p.(Cys274Ser)	NC_000017.10:g.1629073T>A	VUS	1 lab	7f40fc9d52
15:63984633 HERC1 A>G	15	63984633	63984633	A	G	HERC1	c.5807T>C	NM_003922.4	NP_003913.3:p.(Ile1936Thr)	NC_000015.9:g.63984633A>G	VUS	1 lab	7f44e45204
14:71267458 MAP3K9 A>G	14	71267458	71267458	A	G	MAP3K9	c.746T>C	NM_001284230.2	NP_001271159.1:p.(Ile249Thr)	NC_000014.8:g.71267458A>G	VUS	1 lab	7f45cbd819
11:17449852 ABCC8 T>A	11	17449852	17449852	T	A	ABCC8	c.2024A>T	NM_000352.6	NP_000343.2:p.(Asp675Val)	NC_000011.9:g.17449852T>A	VUS	1 lab	7f46302e40
15:62990012 TLN2 C>T	15	62990012	62990012	C	T	TLN2	c.1418C>T	NM_015059.3	NP_055874.2:p.(Ser473Leu)	NC_000015.9:g.62990012C>T	VUS	1 lab	7f464f2a75
22:19348794 HIRA G>GGCA	22	19348794	19348799	G	GGCA	HIRA	c.2048_2050dup	NM_003325.4	NP_003316.3:p.(Leu683dup)	NC_000022.10:g.19348797_19348799dup	VUS	1 lab	7f4686ee38
1:226034814 TMEM63A CTGA>C	1	226034814	226034819	CTGA	C	TMEM63A	c.2348_2350del	NM_014698.3	NP_055513.2:p.(Ile783del)	NC_000001.10:g.226034817_226034819del	VUS	1 lab	7f4700cd0b
2:110881384 NPHP1 C>T	2	110881384	110881384	C	T	NPHP1	c.2018G>A	NM_001128178.3	NP_001121650.1:p.(Arg673Lys)	NC_000002.11:g.110881384C>T	VUS	1 lab	7f47505c5c
5:68809799 OCLN A>G	5	68809799	68809799	A	G	OCLN	c.754A>G	NM_001205254.2	NP_001192183.1:p.(Met252Val)	NC_000005.9:g.68809799A>G	(Likely) benign	1 lab	7f47931823
5:140501898 PCDHB4 A>T	5	140501898	140501898	A	T	PCDHB4	c.318A>T	NM_018938.4	NP_061761.1:p.(Gln106His)	NC_000005.9:g.140501898A>T	VUS	1 lab	7f5e55242b
5:141033714 ARAP3 ACCCCCGTGCCTG>A	5	141033714	141033726	ACCCCCGTGCCTG	A	ARAP3	c.4426_4437del	NM_022481.6	NP_071926.4:p.(Gln1476_Gly1479del)	NC_000005.9:g.141033715_141033726del	(Likely) benign	1 lab	7f48a10853
5:149360202 SLC26A2 T>A	5	149360202	149360202	T	A	SLC26A2	c.1046T>A	NM_000112.4	NP_000103.2:p.(Phe349Tyr)	NC_000005.9:g.149360202T>A	(Likely) benign	1 lab	7f4cdf30b2
8:144994884 PLEC C>A	8	144994884	144994884	C	A	PLEC	c.9105G>T	NM_201384.3	NP_958786.1:p.(Gly3035=)	NC_000008.10:g.144994884C>A	(Likely) benign	1 lab	7f4f47491c
X:79946563 BRWD3 A>T	X	79946563	79946563	A	T	BRWD3	c.3591T>A	NM_153252.5	NP_694984.5:p.(Asn1197Lys)	NC_000023.10:g.79946563A>T	(Likely) benign	1 lab	7f502b1c2b
11:118968558 DPAGT1 C>T	11	118968558	118968558	C	T	DPAGT1	c.917+7G>A	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118968558C>T	(Likely) benign	1 lab	7f5360dadf
6:21595272 SOX4 C>G	6	21595272	21595272	C	G	SOX4	c.507C>G	NM_003107.3	NP_003098.1:p.(Gly169=)	NC_000006.11:g.21595272C>G	(Likely) benign	1 lab	7f549f7eb4
2:170072852 LRP2 G>C	2	170072852	170072852	G	C	LRP2	c.5737C>G	NM_004525.3	NP_004516.2:p.(Leu1913Val)	NC_000002.11:g.170072852G>C	VUS	1 lab	7f581f0ea0
4:6279203 WFS1 G>T	4	6279203	6279203	G	T	WFS1	c.21G>T	NM_006005.3	NP_005996.2:p.(Pro7=)	NC_000004.11:g.6279203G>T	(Likely) benign	1 lab	7f58526ca6
22:50301522 ALG12 G>A	22	50301522	50301522	G	A	ALG12	c.839C>T	NM_024105.4	NP_077010.1:p.(Pro280Leu)	NC_000022.10:g.50301522G>A	VUS	1 lab	7f5bf9f9d1
6:51612696 PKHD1 G>A	6	51612696	51612696	G	A	PKHD1	c.9718C>T	NM_138694.4	NP_619639.3:p.(Arg3240Ter)	NC_000006.11:g.51612696G>A	(Likely) pathogenic	1 lab	7f5c72b401
X:76937428 ATRX C>T	X	76937428	76937428	C	T	ATRX	c.3320G>A	NM_000489.6	NP_000480.3:p.(Cys1107Tyr)	NC_000023.10:g.76937428C>T	VUS	1 lab	7f5c98b1ca
8:62580794 ASPH T>C	8	62580794	62580794	T	C	ASPH	c.322+12733A>G	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62580794T>C	(Likely) benign	1 lab	7f5cb6556d
15:89403557 ACAN C>T	15	89403557	89403557	C	T	ACAN	c.6833C>T	NM_001369268.1	NP_001356197.1:p.(Ala2278Val)	NC_000015.9:g.89403557C>T	(Likely) benign	1 lab	7f60c4dc3e
16:2287504 DNASE1L2 CGCCGAGCTCTGACG>C	16	2287504	2287518	CGCCGAGCTCTGACG	C	DNASE1L2	c.446_459del	NM_001374.3	NP_001365.1:p.(Arg149ProfsTer73)	NC_000016.9:g.2287505_2287518del	(Likely) benign	1 lab	7f61775dd7
1:233136185 PCNX2 C>T	1	233136185	233136185	C	T	PCNX2	c.5194G>A	NM_014801.4	NP_055616.3:p.(Asp1732Asn)	NC_000001.10:g.233136185C>T	VUS	1 lab	7f62a20ac7
5:37048688 NIPBL C>T	5	37048688	37048688	C	T	NIPBL	c.6674C>T	NM_133433.4	NP_597677.2:p.(Ser2225Phe)	NC_000005.9:g.37048688C>T	VUS	1 lab	7f62db56b6
17:19261160 B9D1 G>C	17	19261160	19261160	G	C	B9D1	c.296C>G	NM_001243473.2	NP_001230402.1:p.(Pro99Arg)	NC_000017.10:g.19261160G>C	(Likely) benign	1 lab	2573fe3af7
10:114911540 TCF7L2 C>G	10	114911540	114911540	C	G	TCF7L2	c.1058C>G	NM_001367943.1	NP_001354872.1:p.(Pro353Arg)	NC_000010.10:g.114911540C>G	(Likely) pathogenic	1 lab	7f68efe0f2
11:89532887 TRIM49 G>A	11	89532887	89532887	G	A	TRIM49	c.856C>T	NM_020358.2	NP_065091.1:p.(Arg286Ter)	NC_000011.9:g.89532887G>A	VUS	1 lab	7f69f92142
19:7125349 INSR C>T	19	7125349	7125349	C	T	INSR	c.3203G>A	NM_000208.4	NP_000199.2:p.(Arg1068Gln)	NC_000019.9:g.7125349C>T	VUS	1 lab	7f6b55de52
14:102506003 DYNC1H1 T>C	14	102506003	102506003	T	C	DYNC1H1	c.11624T>C	NM_001376.5	NP_001367.2:p.(Met3875Thr)	NC_000014.8:g.102506003T>C	VUS	1 lab	7f6b9c5888
8:41556842 ANK1 C>T	8	41556842	41556842	C	T	ANK1	c.2681+128G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41556842C>T	(Likely) benign	1 lab	25780e443a
19:42729864 ZNF526 G>C	19	42729864	42729864	G	C	ZNF526	c.1309G>C	NM_133444.3	NP_597701.1:p.(Ala437Pro)	NC_000019.9:g.42729864G>C	(Likely) benign	1 lab	7f6c8764bb
21:46047205 TSPEAR G>A	21	46047205	46047205	G	A	TSPEAR	c.83-59316C>T	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46047205G>A	VUS	1 lab	7f6ea04f6b
X:136112956 GPR101 G>A	X	136112956	136112956	G	A	GPR101	c.878C>T	NM_054021.2	NP_473362.1:p.(Thr293Ile)	NC_000023.10:g.136112956G>A	(Likely) benign	1 lab	7f6eb29a95
15:44925819 SPG11 C>T	15	44925819	44925819	C	T	SPG11	c.1619G>A	NM_025137.4	NP_079413.3:p.(Arg540His)	NC_000015.9:g.44925819C>T	VUS	1 lab	7f70e5ea35
7:29923887 WIPF3 CAT>C	7	29923887	29923889	CAT	C	WIPF3	c.778_779del	NM_001080529.3	NP_001073998.2:p.(Ile260ProfsTer57)	NC_000007.13:g.29923888_29923889del	(Likely) benign	1 lab	7f71f63783
5:224479 SDHA C>T	5	224479	224479	C	T	SDHA	c.155C>T	NM_004168.4	NP_004159.2:p.(Ser52Phe)	NC_000005.9:g.224479C>T	VUS	1 lab	7f72492009
19:39214324 ACTN4 C>A	19	39214324	39214324	C	A	ACTN4	c.1513C>A	NM_004924.6	NP_004915.2:p.(Leu505Ile)	NC_000019.9:g.39214324C>A	VUS	1 lab	7f72684420
22:42608215 TCF20 T>C	22	42608215	42608215	T	C	TCF20	c.3097A>G	NM_001378418.1	NP_001365347.1:p.(Met1033Val)	NC_000022.10:g.42608215T>C	VUS	1 lab	7f738b1cca
2:149835510 KIF5C G>A	2	149835510	149835510	G	A	KIF5C	c.1362+6G>A	NM_004522.3	NP_004513.1:p.?	NC_000002.11:g.149835510G>A	(Likely) benign	1 lab	7f7494278f
6:51913430 PKHD1 A>C	6	51913430	51913430	A	C	PKHD1	c.2280-13T>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51913430A>C	(Likely) benign	1 lab	7f75147626
20:44639678 MMP9 G>A	20	44639678	44639678	G	A	MMP9	c.638G>A	NM_004994.3	NP_004985.2:p.(Gly213Asp)	NC_000020.10:g.44639678G>A	(Likely) benign	1 lab	7f756d4267
15:75705322 SIN3A TTATCA>T	15	75705322	75705327	TTATCA	T	SIN3A	c.533_537del	NM_001145358.2	NP_001138830.1:p.(Leu178HisfsTer14)	NC_000015.9:g.75705323_75705327del	(Likely) pathogenic	1 lab	7f75e1430c
9:80262610 GNA14 G>C	9	80262610	80262610	G	C	GNA14	c.100C>G	NM_004297.4	NP_004288.1:p.(Arg34Gly)	NC_000009.11:g.80262610G>C	VUS	1 lab	801e53d4a2
18:12371433 AFG3L2 A>G	18	12371433	12371433	A	G	AFG3L2	c.214+158T>C	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12371433A>G	(Likely) benign	1 lab	257919e466
7:39736321 RALA C>G	7	39736321	39736321	C	G	RALA	c.361C>G	NM_005402.4	NP_005393.2:p.(Pro121Ala)	NC_000007.13:g.39736321C>G	VUS	1 lab	7f7640e6e1
13:110804776 COL4A1 C>T	13	110804776	110804776	C	T	COL4A1	c.4833G>A	NM_001845.6	NP_001836.3:p.(Ala1611=)	NC_000013.10:g.110804776C>T	(Likely) benign	1 lab	7f772c185b
4:107248623 AIMP1 T>C	4	107248623	107248623	T	C	AIMP1	c.125T>C	NM_001142416.2	NP_001135888.2:p.(Leu42Ser)	NC_000004.11:g.107248623T>C	VUS	1 lab	7f77d65515
21:45714333 AIRE G>A	21	45714333	45714333	G	A	AIRE	c.1450G>A	NM_000383.4	NP_000374.1:p.(Val484Met)	NC_000021.8:g.45714333G>A	VUS	1 lab	7f783656e0
X:6069393 NLGN4X T>C	X	6069393	6069393	T	C	NLGN4X	c.115A>G	NM_181332.3	NP_851849.1:p.(Ile39Val)	NC_000023.10:g.6069393T>C	VUS	1 lab	7f792a4de6
12:50513947 COX14 C>T	12	50513947	50513947	C	T	COX14	c.121C>T	NM_032901.4	NP_116290.1:p.(Arg41Cys)	NC_000012.11:g.50513947C>T	VUS	1 lab	7f7ae4cde6
16:30772923 CFAP119 C>T	16	30772923	30772923	C	T	CFAP119	c.147G>A	NM_001014979.3	NP_001014979.2:p.(Gln49=)	NC_000016.9:g.30772923C>T	(Likely) benign	1 lab	7f7ba0fdae
9:80262702 GNA14 C>A	9	80262702	80262702	C	A	GNA14	c.8G>T	NM_004297.4	NP_004288.1:p.(Gly3Val)	NC_000009.11:g.80262702C>A	VUS	1 lab	7f7d8fa0ca
16:31008864 STX1B GC>G	16	31008864	31008868	GC	G	STX1B	c.312del	NM_052874.5	NP_443106.1:p.(Leu105Ter)	NC_000016.9:g.31008868del	(Likely) pathogenic	1 lab	23fb984c19
8:144890769 SCRIB T>C	8	144890769	144890769	T	C	SCRIB	c.2115+10A>G	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144890769T>C	(Likely) benign	1 lab	7f82231d42
7:99361477 CYP3A4 C>T	7	99361477	99361477	C	T	CYP3A4	c.1026+1G>A	NM_017460.6	NP_059488.2:p.?	NC_000007.13:g.99361477C>T	(Likely) benign	1 lab	7f83e2141d
6:39881089 MOCS1 C>T	6	39881089	39881089	C	T	MOCS1	c.729G>A	NM_001358530.2	NP_001345459.1:p.(Val243=)	NC_000006.11:g.39881089C>T	VUS	1 lab	7f84993d3a
19:36606581 TBCB G>T	19	36606581	36606581	G	T	TBCB	c.114+5G>T	NM_001281.3	NP_001272.2:p.?	NC_000019.9:g.36606581G>T	VUS	1 lab	7f86ff68af
2:27527897 TRIM54 T>G	2	27527897	27527897	T	G	TRIM54	c.584T>G	NM_187841.3	NP_912730.2:p.(Met195Arg)	NC_000002.11:g.27527897T>G	VUS	1 lab	7f87a8798a
1:247835475 OR13G1 T>C	1	247835475	247835475	T	C	OR13G1	c.869A>G	NM_001005487.2	NP_001005487.1:p.(Gln290Arg)	NC_000001.10:g.247835475T>C	(Likely) benign	1 lab	7f885d620b
22:25599774 CRYBB3 T>TTC	22	25599774	25599777	T	TTC	CRYBB3	c.241_242dup	NM_004076.5	NP_004067.1:p.(Glu82TrpfsTer27)	NC_000022.10:g.25599776_25599777dup	VUS	1 lab	7f89b26abb
X:72094776 DMRTC1 G>A	X	72094776	72094776	G	A	DMRTC1	c.140C>T	NM_033053.3	NP_149042.2:p.(Ala47Val)	NC_000023.10:g.72094776G>A	(Likely) benign	1 lab	7f89d2abfb
22:31330091 MORC2 G>A	22	31330091	31330091	G	A	MORC2	c.2281C>T	NM_001303256.3	NP_001290185.1:p.(Arg761Trp)	NC_000022.10:g.31330091G>A	(Likely) benign	1 lab	7f8a6dc864
12:472260 KDM5A C>T	12	472260	472260	C	T	KDM5A	c.541G>A	NM_001042603.3	NP_001036068.1:p.(Val181Met)	NC_000012.11:g.472260C>T	(Likely) benign	1 lab	7f8b1ada85
2:238253497 COL6A3 T>C	2	238253497	238253497	T	C	COL6A3	c.7175-11A>G	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238253497T>C	(Likely) benign	1 lab	7f8f704969
6:74351458 SLC17A5 C>T	6	74351458	74351458	C	T	SLC17A5	c.481G>A	NM_012434.5	NP_036566.1:p.(Val161Ile)	NC_000006.11:g.74351458C>T	VUS	1 lab	7f8fb2e6d3
12:21997821 ABCC9 A>T	12	21997821	21997821	A	T	ABCC9	c.3125T>A	NM_020297.4	NP_064693.2:p.(Leu1042His)	NC_000012.11:g.21997821A>T	VUS	1 lab	7f9002ce3a
X:7811653 VCX G>A	X	7811653	7811653	G	A	VCX	c.217G>A	NM_001393662.1	NP_001380591.1:p.(Ala73Thr)	NC_000023.10:g.7811653G>A	(Likely) benign	1 lab	7f901722b1
14:68249637 ZFYVE26 T>G	14	68249637	68249637	T	G	ZFYVE26	c.4232A>C	NM_015346.4	NP_056161.2:p.(Asp1411Ala)	NC_000014.8:g.68249637T>G	VUS	1 lab	7f90733244
15:89008843 MRPL46 C>A	15	89008843	89008843	C	A	MRPL46	c.390G>T	NM_022163.4	NP_071446.2:p.(Gln130His)	NC_000015.9:g.89008843C>A	(Likely) benign	1 lab	7f90a19802
2:179517448 TTN T>A	2	179517448	179517448	T	A	TTN	c.38975A>T	NM_001267550.2	NP_001254479.2:p.(Lys12992Ile)	NC_000002.11:g.179517448T>A	(Likely) benign	1 lab	7f911839f6
8:38005708 STAR C>T	8	38005708	38005708	C	T	STAR	c.306+10G>A	NM_000349.3	NP_000340.2:p.?	NC_000008.10:g.38005708C>T	(Likely) benign	1 lab	7f91bc7a41
1:93142746 EVI5 G>A	1	93142746	93142746	G	A	EVI5	c.1127C>T	NM_001350197.2	NP_001337126.1:p.(Thr376Met)	NC_000001.10:g.93142746G>A	VUS	1 lab	7f92bb3375
17:60108834 MED13 G>T	17	60108834	60108834	G	T	MED13	c.980C>A	NM_005121.3	NP_005112.2:p.(Pro327Gln)	NC_000017.10:g.60108834G>T	VUS	1 lab	7f9369c110
20:62044831 KCNQ2 G>C	20	62044831	62044831	G	C	KCNQ2	c.1735C>G	NM_172107.4	NP_742105.1:p.(Leu579Val)	NC_000020.10:g.62044831G>C	(Likely) pathogenic	1 lab	23fc3666b3
19:50365931 PNKP G>A	19	50365931	50365931	G	A	PNKP	c.865+16C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365931G>A	(Likely) benign	1 lab	257ffe8c00
4:183714156 TENM3 C>T	4	183714156	183714156	C	T	TENM3	c.6331C>T	NM_001080477.4	NP_001073946.1:p.(Arg2111Trp)	NC_000004.11:g.183714156C>T	VUS	1 lab	7f94806462
X:110956486 ALG13 A>T	X	110956486	110956486	A	T	ALG13	c.966A>T	NM_001099922.3	NP_001093392.1:p.(Lys322Asn)	NC_000023.10:g.110956486A>T	(Likely) benign	1 lab	7f95987d7f
12:121881906 KDM2B G>A	12	121881906	121881906	G	A	KDM2B	c.2360C>T	NM_032590.5	NP_115979.3:p.(Pro787Leu)	NC_000012.11:g.121881906G>A	(Likely) benign	1 lab	7f96433483
5:149506136 PDGFRB G>C	5	149506136	149506136	G	C	PDGFRB	c.1621C>G	NM_002609.4	NP_002600.1:p.(Leu541Val)	NC_000005.9:g.149506136G>C	VUS	1 lab	7f96d3c8a7
12:105537022 WASHC4 G>A	12	105537022	105537022	G	A	WASHC4	c.2010+1G>A	NM_015275.3	NP_056090.1:p.?	NC_000012.11:g.105537022G>A	VUS	1 lab	7f9708d008
17:36891489 CISD3 G>C	17	36891489	36891489	G	C	CISD3	c.*1781G>C	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36891489G>C	(Likely) benign	1 lab	7f9969d9e9
16:2143809 PKD1 CACCTT>C	16	2143809	2143814	CACCTT	C	PKD1	c.10819_10821+2del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2143810_2143814del	(Likely) pathogenic	1 lab	7f9abf1612
11:65325185 LTBP3 G>A	11	65325185	65325185	G	A	LTBP3	c.246C>T	NM_001130144.2	NP_001123616.1:p.(Asp82=)	NC_000011.9:g.65325185G>A	(Likely) benign	1 lab	258022ada9
8:70585325 SLCO5A1 G>A	8	70585325	70585325	G	A	SLCO5A1	c.2326C>T	NM_030958.3	NP_112220.2:p.(Pro776Ser)	NC_000008.10:g.70585325G>A	(Likely) benign	1 lab	7f9c3d4f0a
3:53126524 RFT1 C>A	3	53126524	53126524	C	A	RFT1	c.1319G>T	NM_052859.4	NP_443091.1:p.(Gly440Val)	NC_000003.11:g.53126524C>A	(Likely) benign	1 lab	7f9ce214a8
14:33242975 AKAP6 A>G	14	33242975	33242975	A	G	AKAP6	c.3464A>G	NM_004274.5	NP_004265.3:p.(Asn1155Ser)	NC_000014.8:g.33242975A>G	(Likely) benign	1 lab	7f9df83496
16:8992453 USP7 C>T	16	8992453	8992453	C	T	USP7	c.2575G>A	NM_003470.3	NP_003461.2:p.(Gly859Ser)	NC_000016.9:g.8992453C>T	VUS	1 lab	7f9fab3417
15:41102301 ZFYVE19 C>T	15	41102301	41102301	C	T	ZFYVE19	c.604C>T	NM_001077268.2	NP_001070736.1:p.(Arg202Trp)	NC_000015.9:g.41102301C>T	(Likely) benign	1 lab	7f9fd2cce9
9:140127062 SLC34A3 G>A	9	140127062	140127062	G	A	SLC34A3	c.211G>A	NM_001177316.2	NP_001170787.2:p.(Gly71Ser)	NC_000009.11:g.140127062G>A	(Likely) benign	1 lab	7fa11cd792
1:43393447 SLC2A1 G>A	1	43393447	43393447	G	A	SLC2A1	c.1107C>T	NM_006516.4	NP_006507.2:p.(Ile369=)	NC_000001.10:g.43393447G>A	(Likely) benign	1 lab	23ff8c2dfa
2:228884813 SPHKAP T>A	2	228884813	228884813	T	A	SPHKAP	c.757A>T	NM_001142644.2	NP_001136116.1:p.(Thr253Ser)	NC_000002.11:g.228884813T>A	VUS	1 lab	7fa30d04cd
6:33400477 SYNGAP1 C>T	6	33400477	33400477	C	T	SYNGAP1	c.403C>T	NM_006772.3	NP_006763.2:p.(Arg135Ter)	NC_000006.11:g.33400477C>T	(Likely) pathogenic	1 lab	2400765ffa
16:75573972 TMEM231 C>T	16	75573972	75573972	C	T	TMEM231	c.871G>A	NM_001077418.3	NP_001070886.1:p.(Val291Met)	NC_000016.9:g.75573972C>T	VUS	1 lab	7fa4c419c3
6:154743711 CNKSR3 G>A	6	154743711	154743711	G	A	CNKSR3	c.874C>T	NM_173515.4	NP_775786.2:p.(Arg292Cys)	NC_000006.11:g.154743711G>A	VUS	1 lab	7fa551fca1
1:201332410 TNNT2 T>A	1	201332410	201332410	T	A	TNNT2	c.600+14A>T	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201332410T>A	(Likely) benign	1 lab	24030eac84
X:131762594 HS6ST2 T>A	X	131762594	131762594	T	A	HS6ST2	c.1595A>T	NM_001394073.1	NP_001381002.1:p.(Lys532Ile)	NC_000023.10:g.131762594T>A	VUS	1 lab	7fa7383dae
X:2931112 ARSH A>G	X	2931112	2931112	A	G	ARSH	c.239A>G	NM_001011719.2	NP_001011719.1:p.(Asn80Ser)	NC_000023.10:g.2931112A>G	(Likely) benign	1 lab	7fa7dcd19e
10:50820370 SLC18A3 C>T	10	50820370	50820370	C	T	SLC18A3	c.1584C>T	NM_003055.3	NP_003046.2:p.(Tyr528=)	NC_000010.10:g.50820370C>T	(Likely) benign	1 lab	7fa8c654c8
1:12567127 VPS13D C>G	1	12567127	12567127	C	G	VPS13D	c.13015C>G	NM_015378.4	NP_056193.2:p.(Pro4339Ala)	NC_000001.10:g.12567127C>G	(Likely) benign	1 lab	2585e12213
9:35810122 SPAG8 C>T	9	35810122	35810122	C	T	SPAG8	c.1271G>A	NM_001039592.2	NP_001034681.1:p.(Ser424Asn)	NC_000009.11:g.35810122C>T	(Likely) benign	1 lab	7fa999ae8b
X:48772479 PIM2 C>T	X	48772479	48772479	C	T	PIM2	c.413G>A	NM_006875.4	NP_006866.2:p.(Gly138Asp)	NC_000023.10:g.48772479C>T	(Likely) benign	1 lab	7fa9bdaf62
6:33756184 LEMD2 G>A	6	33756184	33756184	G	A	LEMD2	c.710C>T	NM_181336.4	NP_851853.1:p.(Ser237Leu)	NC_000006.11:g.33756184G>A	(Likely) benign	1 lab	7fabf572f0
20:47991510 KCNB1 A>G	20	47991510	47991510	A	G	KCNB1	c.587T>C	NM_004975.4	NP_004966.1:p.(Ile196Thr)	NC_000020.10:g.47991510A>G	(Likely) pathogenic	1 lab	7fac31aa13
13:39425937 FREM2 C>G	13	39425937	39425937	C	G	FREM2	c.6857C>G	NM_207361.6	NP_997244.4:p.(Ser2286Cys)	NC_000013.10:g.39425937C>G	VUS	1 lab	7fad28a9e4
5:176636718 NSD1 C>T	5	176636718	176636718	C	T	NSD1	c.1318C>T	NM_022455.5	NP_071900.2:p.(Arg440Ter)	NC_000005.9:g.176636718C>T	(Likely) pathogenic	1 lab	7fadb5560a
7:6449946 DAGLB C>T	7	6449946	6449946	C	T	DAGLB	c.1635G>A	NM_139179.4	NP_631918.3:p.(Thr545=)	NC_000007.13:g.6449946C>T	(Likely) benign	1 lab	7fade57bc2
22:21348522 LZTR1 T>C	22	21348522	21348522	T	C	LZTR1	c.1579T>C	NM_006767.4	NP_006758.2:p.(Phe527Leu)	NC_000022.10:g.21348522T>C	VUS	1 lab	7fb0a97ba6
17:41570072 DHX8 G>A	17	41570072	41570072	G	A	DHX8	c.527G>A	NM_004941.3	NP_004932.1:p.(Arg176Gln)	NC_000017.10:g.41570072G>A	(Likely) benign	1 lab	7fb226a92f
7:2584618 BRAT1 C>T	7	2584618	2584618	C	T	BRAT1	c.355G>A	NM_001350626.2	NP_001337555.1:p.(Val119Met)	NC_000007.13:g.2584618C>T	VUS	1 lab	24068aefdf
22:50312457 CRELD2 C>T	22	50312457	50312457	C	T	CRELD2	c.40C>T	NM_024324.5	NP_077300.3:p.(Leu14Phe)	NC_000022.10:g.50312457C>T	(Likely) benign	1 lab	7fb2f9c0a4
12:99194839 ANKS1B G>A	12	99194839	99194839	G	A	ANKS1B	c.3206C>T	NM_001352186.2	NP_001339115.1:p.(Pro1069Leu)	NC_000012.11:g.99194839G>A	VUS	1 lab	7fb52f0363
19:10284557 DNMT1 A>T	19	10284557	10284557	A	T	DNMT1	c.673T>A	NM_001130823.3	NP_001124295.1:p.(Ser225Thr)	NC_000019.9:g.10284557A>T	(Likely) benign	1 lab	7fb7108068
20:60884880 LAMA5 C>G	20	60884880	60884880	C	G	LAMA5	c.10840G>C	NM_005560.6	NP_005551.3:p.(Gly3614Arg)	NC_000020.10:g.60884880C>G	(Likely) benign	1 lab	7fb748dce1
16:88782152 PIEZO1 C>T	16	88782152	88782152	C	T	PIEZO1	c.7427G>A	NM_001142864.4	NP_001136336.2:p.(Arg2476His)	NC_000016.9:g.88782152C>T	(Likely) benign	1 lab	7fb7598e36
5:153077689 GRIA1 G>A	5	153077689	153077689	G	A	GRIA1	c.1220G>A	NM_000827.4	NP_000818.2:p.(Arg407Lys)	NC_000005.9:g.153077689G>A	(Likely) benign	1 lab	7fb75e716c
11:108214064 ATM ATTTCAGTGCC>A	11	108214064	108214084	ATTTCAGTGCC	A	ATM	c.8395_8404del	NM_000051.4	NP_000042.3:p.(Phe2799LysfsTer4)	NC_000011.9:g.108214075_108214084del	(Likely) pathogenic	1 lab	7fb9e7a1bc
X:84363368 SATL1 TGCCTGGTTGTTGCAC>T	X	84363368	84363392	TGCCTGGTTGTTGCAC	T	SATL1	c.592_606del	NM_001367857.2	NP_001354786.1:p.(Val198_Gly202del)	NC_000023.10:g.84363378_84363392del	(Likely) benign	1 lab	7fba62739a
8:9413472 TNKS A>T	8	9413472	9413472	A	T	TNKS	c.23A>T	NM_003747.3	NP_003738.2:p.(Gln8Leu)	NC_000008.10:g.9413472A>T	VUS	1 lab	7fbbe58600
11:64109458 CCDC88B A>T	11	64109458	64109458	A	T	CCDC88B	c.676-8A>T	NM_032251.6	NP_115627.6:p.?	NC_000011.9:g.64109458A>T	VUS	1 lab	7fbc7cfa9e
22:19752541 TBX1 C>T	22	19752541	19752541	C	T	TBX1	c.772C>T	NM_001379200.1	NP_001366129.1:p.(Arg258Cys)	NC_000022.10:g.19752541C>T	(Likely) benign	1 lab	7fbe11cf06
1:44069334 PTPRF G>T	1	44069334	44069334	G	T	PTPRF	c.2511G>T	NM_002840.5	NP_002831.2:p.(Leu837=)	NC_000001.10:g.44069334G>T	VUS	1 lab	7fbffb3e6e
13:111118382 COL4A2 G>A	13	111118382	111118382	G	A	COL4A2	c.2011G>A	NM_001846.4	NP_001837.2:p.(Gly671Ser)	NC_000013.10:g.111118382G>A	(Likely) benign	1 lab	7fc057ce83
17:61995299 GH1 C>T	17	61995299	61995299	C	T	GH1	c.292-15G>A	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995299C>T	(Likely) benign	1 lab	7fc171afc7
2:128047265 ERCC3 G>A	2	128047265	128047265	G	A	ERCC3	c.657C>T	NM_000122.2	NP_000113.1:p.(Ala219=)	NC_000002.11:g.128047265G>A	(Likely) benign	1 lab	7fc317031b
2:208986504 CRYGD G>C	2	208986504	208986504	G	C	CRYGD	c.418C>G	NM_006891.4	NP_008822.2:p.(Arg140Gly)	NC_000002.11:g.208986504G>C	VUS	1 lab	7fc3756dd5
5:127730925 FBN2 C>T	5	127730925	127730925	C	T	FBN2	c.1121G>A	NM_001999.4	NP_001990.2:p.(Arg374His)	NC_000005.9:g.127730925C>T	VUS	1 lab	7fc3f9a6ca
3:142395064 PLS1 C>T	3	142395064	142395064	C	T	PLS1	c.430C>T	NM_001145319.2	NP_001138791.1:p.(His144Tyr)	NC_000003.11:g.142395064C>T	(Likely) benign	1 lab	7fc48c4662
16:88884521 GALNS G>A	16	88884521	88884521	G	A	GALNS	c.1376C>T	NM_000512.5	NP_000503.1:p.(Ala459Val)	NC_000016.9:g.88884521G>A	(Likely) benign	1 lab	7fc4e9bffc
16:57690177 ADGRG1 C>T	16	57690177	57690177	C	T	ADGRG1	c.1057C>T	NM_201525.4	NP_958933.1:p.(Pro353Ser)	NC_000016.9:g.57690177C>T	(Likely) benign	1 lab	7fc5adefd0
8:10469938 RP1L1 C>T	8	10469938	10469938	C	T	RP1L1	c.1670G>A	NM_178857.6	NP_849188.4:p.(Gly557Asp)	NC_000008.10:g.10469938C>T	(Likely) benign	1 lab	7fc67a1b83
17:28791746 CPD A>G	17	28791746	28791746	A	G	CPD	c.4057A>G	NM_001304.5	NP_001295.2:p.(Thr1353Ala)	NC_000017.10:g.28791746A>G	(Likely) benign	1 lab	7fca1668ef
5:13862659 DNAH5 G>T	5	13862659	13862659	G	T	DNAH5	c.4794C>A	NM_001369.3	NP_001360.1:p.(Asn1598Lys)	NC_000005.9:g.13862659G>T	VUS	1 lab	7fcb58f998
2:55155452 EML6 A>T	2	55155452	55155452	A	T	EML6	c.3678A>T	NM_001039753.4	NP_001034842.2:p.(Gly1226=)	NC_000002.11:g.55155452A>T	VUS	1 lab	7fcbf2c514
5:64181378 CWC27 G>A	5	64181378	64181378	G	A	CWC27	c.1042+5G>A	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64181378G>A	(Likely) benign	1 lab	7fcc8bf8f1
22:19132135 ESS2 A>C	22	19132135	19132135	A	C	ESS2	c.19T>G	NM_022719.3	NP_073210.1:p.(Ser7Ala)	NC_000022.10:g.19132135A>C	(Likely) benign	1 lab	7fcd4372a8
15:33445590 FMN1 G>A	15	33445590	33445590	G	A	FMN1	c.1526C>T	NM_001277313.2	NP_001264242.1:p.(Ser509Leu)	NC_000015.9:g.33445590G>A	(Likely) benign	1 lab	7fcf26d542
15:99434860 IGF1R G>T	15	99434860	99434860	G	T	IGF1R	c.947G>T	NM_000875.5	NP_000866.1:p.(Ser316Ile)	NC_000015.9:g.99434860G>T	VUS	1 lab	7fd081bcae
17:7755931 KDM6B C>A	17	7755931	7755931	C	A	KDM6B	c.4587C>A	NM_001348716.2	NP_001335645.1:p.(Asp1529Glu)	NC_000017.10:g.7755931C>A	(Likely) benign	1 lab	7fd098be74
5:89977258 ADGRV1 C>T	5	89977258	89977258	C	T	ADGRV1	c.5651C>T	NM_032119.4	NP_115495.3:p.(Thr1884Ile)	NC_000005.9:g.89977258C>T	VUS	1 lab	7fd2b236ab
7:156802557 MNX1 A>G	7	156802557	156802557	A	G	MNX1	c.488T>C	NM_005515.4	NP_005506.3:p.(Val163Ala)	NC_000007.13:g.156802557A>G	(Likely) benign	1 lab	7fd333e0ba
16:3817905 CREBBP C>G	16	3817905	3817905	C	G	CREBBP	c.3066G>C	NM_004380.3	NP_004371.2:p.(Met1022Ile)	NC_000016.9:g.3817905C>G	VUS	1 lab	7fd3f529ce
19:10279024 DNMT1 C>T	19	10279024	10279024	C	T	DNMT1	c.785G>A	NM_001130823.3	NP_001124295.1:p.(Arg262Gln)	NC_000019.9:g.10279024C>T	VUS	1 lab	7fd54dd030
19:49378864 PPP1R15A C>T	19	49378864	49378864	C	T	PPP1R15A	c.1666-7C>T	NM_014330.5	NP_055145.3:p.?	NC_000019.9:g.49378864C>T	(Likely) benign	1 lab	7fd551d2e3
6:99831703 COQ3 G>GA	6	99831703	99831713	G	GA	COQ3	c.107-4dup	NM_017421.4	NP_059117.3:p.?	NC_000006.11:g.99831713dup	VUS	1 lab	7fd5af8f39
13:32914584 BRCA2 C>T	13	32914584	32914584	C	T	BRCA2	c.6092C>T	NM_000059.4	NP_000050.3:p.(Thr2031Ile)	NC_000013.10:g.32914584C>T	VUS	1 lab	7fd5c65f56
17:80788173 TBCD T>C	17	80788173	80788173	T	C	TBCD	c.1318+15363T>C	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788173T>C	(Likely) benign	1 lab	7fdea2bceb
19:46914889 CCDC8 C>CGCCCTCTGATTATCTGCAGCCTCTTCCCTGTGGTTATCTGTGCCCTGTGACCTCTGGTCAGCTGGGGCCTCT	19	46914889	46914990	C	CGCCCTCTGATTATCTGCAGCCTCTTCCCTGTGGTTATCTGTGCCCTGTGACCTCTGGTCAGCTGGGGCCTCT	CCDC8	c.1107_1178dup	NM_032040.5	NP_114429.2:p.(Arg376_Gln399dup)	NC_000019.9:g.46914919_46914990dup	VUS	1 lab	7fd64ad451
9:97717515 AOPEP A>G	9	97717515	97717515	A	G	AOPEP	c.1718A>G	NM_001193329.3	NP_001180258.1:p.(His573Arg)	NC_000009.11:g.97717515A>G	(Likely) benign	1 lab	7fd6e53a21
12:88449351 CEP290 AC>A	12	88449351	88449353	AC	A	CEP290	c.6960+1del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88449353del	(Likely) benign	1 lab	7fd90ddcb6
17:1631356 WDR81 G>C	17	1631356	1631356	G	C	WDR81	c.3103G>C	NM_001163809.2	NP_001157281.1:p.(Gly1035Arg)	NC_000017.10:g.1631356G>C	VUS	1 lab	7fd93e9ac1
7:44193006 GCK C>G	7	44193006	44193006	C	G	GCK	c.102G>C	NM_000162.5	NP_000153.1:p.(Met34Ile)	NC_000007.13:g.44193006C>G	VUS	1 lab	7fd941d3b3
14:103420998 CDC42BPB G>T	14	103420998	103420998	G	T	CDC42BPB	c.2929C>A	NM_006035.4	NP_006026.3:p.(Gln977Lys)	NC_000014.8:g.103420998G>T	(Likely) benign	1 lab	7fd99468c0
11:119545899 NECTIN1 G>A	11	119545899	119545899	G	A	NECTIN1	c.973C>T	NM_002855.5	NP_002846.3:p.(Arg325Cys)	NC_000011.9:g.119545899G>A	VUS	1 lab	7fd9de5b0c
6:31084075 CDSN G>C	6	31084075	31084075	G	C	CDSN	c.1317C>G	NM_001264.5	NP_001255.4:p.(Ser439=)	NC_000006.11:g.31084075G>C	(Likely) benign	1 lab	240a25ff16
13:32911743 BRCA2 G>A	13	32911743	32911743	G	A	BRCA2	c.3251G>A	NM_000059.3	NP_000050.2:p.(Ser1084Asn)	NC_000013.10:g.32911743G>A	(Likely) benign	1 lab	2588e5dd53
4:186583269 SORBS2 C>T	4	186583269	186583269	C	T	SORBS2	c.383G>A	NM_001395207.1	NP_001382136.1:p.(Gly128Asp)	NC_000004.11:g.186583269C>T	VUS	1 lab	7fdc693400
9:91949520 SECISBP2 A>G	9	91949520	91949520	A	G	SECISBP2	c.964A>G	NM_024077.5	NP_076982.3:p.(Met322Val)	NC_000009.11:g.91949520A>G	(Likely) benign	1 lab	7fdcebf95f
7:158664192 DYNC2I1 G>T	7	158664192	158664192	G	T	DYNC2I1	c.429G>T	NM_018051.5	NP_060521.4:p.(Leu143=)	NC_000007.13:g.158664192G>T	(Likely) benign	1 lab	7fde016692
14:57710971 EXOC5 C>T	14	57710971	57710971	C	T	EXOC5	c.377G>A	NM_006544.4	NP_006535.1:p.(Arg126Gln)	NC_000014.8:g.57710971C>T	VUS	1 lab	7fde428948
1:46977889 DMBX1 C>T	1	46977889	46977889	C	T	DMBX1	c.857C>T	NM_172225.2	NP_757379.1:p.(Pro286Leu)	NC_000001.10:g.46977889C>T	VUS	1 lab	7fde7d3f1f
12:122292662 HPD G>A	12	122292662	122292662	G	A	HPD	c.361C>T	NM_002150.3	NP_002141.2:p.(Pro121Ser)	NC_000012.11:g.122292662G>A	VUS	1 lab	7fde94f65c
16:30723274 SRCAP G>C	16	30723274	30723274	G	C	SRCAP	c.1611G>C	NM_006662.3	NP_006653.2:p.(Gln537His)	NC_000016.9:g.30723274G>C	(Likely) benign	1 lab	7fe1fcc928
5:94803682 SKIC3 C>A	5	94803682	94803682	C	A	SKIC3	c.4508G>T	NM_014639.4	NP_055454.1:p.(Arg1503Leu)	NC_000005.9:g.94803682C>A	VUS	1 lab	7fe2c9525e
6:105563677 POPDC1 A>G	6	105563677	105563677	A	G	POPDC1	c.842T>C	NM_001199563.2	NP_001186492.1:p.(Leu281Pro)	NC_000006.11:g.105563677A>G	(Likely) benign	1 lab	7fe4c23de3
14:76045323 FLVCR2 A>G	14	76045323	76045323	A	G	FLVCR2	c.8A>G	NM_017791.3	NP_060261.2:p.(Asn3Ser)	NC_000014.8:g.76045323A>G	VUS	1 lab	7fe4fcb344
3:12434139 PPARG G>A	3	12434139	12434139	G	A	PPARG	c.417G>A	NM_138711.6	NP_619725.3:p.(Leu139=)	NC_000003.11:g.12434139G>A	(Likely) benign	1 lab	7fe504d597
16:56459112 AMFR G>A	16	56459112	56459112	G	A	AMFR	c.128C>T	NM_001144.6	NP_001135.3:p.(Pro43Leu)	NC_000016.9:g.56459112G>A	VUS	1 lab	7fe60c5922
X:49179683 GAGE12J G>C	X	49179683	49179683	G	C	GAGE12J	c.11G>C	NM_001098406.4	NP_001091876.2:p.(Arg4Pro)	NC_000023.10:g.49179683G>C	VUS	1 lab	7fe6a11f15
9:734834 KANK1 T>C	9	734834	734834	T	C	KANK1	c.3332T>C	NM_015158.5	NP_055973.2:p.(Met1111Thr)	NC_000009.11:g.734834T>C	VUS	1 lab	7fe8dde982
14:31852828 HEATR5A T>G	14	31852828	31852828	T	G	HEATR5A	c.1495A>C	NM_015473.4	NP_056288.2:p.(Lys499Gln)	NC_000014.8:g.31852828T>G	VUS	1 lab	7fe95fb466
10:88818928 GLUD1 C>T	10	88818928	88818928	C	T	GLUD1	c.1381G>A	NM_005271.5	NP_005262.1:p.(Asp461Asn)	NC_000010.10:g.88818928C>T	VUS	1 lab	7fe96c7692
X:114404902 LRCH2 A>T	X	114404902	114404902	A	T	LRCH2	c.958T>A	NM_020871.4	NP_065922.3:p.(Ser320Thr)	NC_000023.10:g.114404902A>T	(Likely) benign	1 lab	7fea62fdbe
1:220298564 IARS2 T>TC	1	220298564	220298570	T	TC	IARS2	c.1641-9dup	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220298570dup	(Likely) benign	1 lab	7feaa92817
14:55310123 GCH1 G>A	14	55310123	55310123	G	A	GCH1	c.*612C>T	NM_000161.3	NP_000152.1:p.?	NC_000014.8:g.55310123G>A	VUS	1 lab	7feb5f6819
5:137688661 KDM3B G>A	5	137688661	137688661	G	A	KDM3B	c.177G>A	NM_016604.4	NP_057688.3:p.(Val59=)	NC_000005.9:g.137688661G>A	(Likely) benign	1 lab	7febaf2a38
6:42937457 PEX6 TC>T	6	42937457	42937459	TC	T	PEX6	c.1315del	NM_000287.4	NP_000278.3:p.(Glu439ArgfsTer11)	NC_000006.11:g.42937459del	(Likely) pathogenic	1 lab	7fec3822b2
6:52288739 EFHC1 T>C	6	52288739	52288739	T	C	EFHC1	c.64-5T>C	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52288739T>C	(Likely) benign	1 lab	240e22855a
2:179500876 TTN G>A	2	179500876	179500876	G	A	TTN	c.41422C>T	NM_001267550.2	NP_001254479.2:p.(Arg13808Cys)	NC_000002.11:g.179500876G>A	VUS	1 lab	7fed8789b7
15:100533377 ADAMTS17 C>T	15	100533377	100533377	C	T	ADAMTS17	c.2825G>A	NM_139057.4	NP_620688.2:p.(Trp942Ter)	NC_000015.9:g.100533377C>T	(Likely) pathogenic	1 lab	7fedac9872
7:44189363 GCK G>A	7	44189363	44189363	G	A	GCK	c.675C>T	NM_000162.5	NP_000153.1:p.(Ile225=)	NC_000007.13:g.44189363G>A	(Likely) benign	1 lab	7fedbb508f
17:4623857 ARRB2 C>T	17	4623857	4623857	C	T	ARRB2	c.1082-24C>T	NM_004313.4	NP_004304.1:p.?	NC_000017.10:g.4623857C>T	VUS	1 lab	7ff23eb9f0
14:76488668 IFT43 A>C	14	76488668	76488668	A	C	IFT43	c.148-2A>C	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76488668A>C	(Likely) pathogenic	1 lab	7ff3c8d5f9
11:2606518 KCNQ1 C>T	11	2606518	2606518	C	T	KCNQ1	c.1109C>T	NM_000218.3	NP_000209.2:p.(Ala370Val)	NC_000011.9:g.2606518C>T	(Likely) benign	1 lab	7ff42c0c18
2:1895800 MYT1L C>T	2	1895800	1895800	C	T	MYT1L	c.2283+9G>A	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1895800C>T	(Likely) benign	1 lab	7ff62e7e85
20:43034729 HNF4A C>T	20	43034729	43034729	C	T	HNF4A	c.147C>T	NM_000457.5	NP_000448.3:p.(Asn49=)	NC_000020.10:g.43034729C>T	(Likely) benign	1 lab	7ff705d5b6
9:37735615 FRMPD1 A>G	9	37735615	37735615	A	G	FRMPD1	c.1285A>G	NM_014907.3	NP_055722.2:p.(Asn429Asp)	NC_000009.11:g.37735615A>G	VUS	1 lab	7ff73b05d9
4:85724552 WDFY3 T>C	4	85724552	85724552	T	C	WDFY3	c.2498A>G	NM_014991.6	NP_055806.2:p.(His833Arg)	NC_000004.11:g.85724552T>C	(Likely) benign	1 lab	7ffa10d458
8:144997230 PLEC C>G	8	144997230	144997230	C	G	PLEC	c.6867G>C	NM_201384.3	NP_958786.1:p.(Glu2289Asp)	NC_000008.10:g.144997230C>G	VUS	1 lab	7ffb094582
17:42992698 GFAP A>G	17	42992698	42992698	A	G	GFAP	c.157T>C	NM_002055.5	NP_002046.1:p.(Ser53Pro)	NC_000017.10:g.42992698A>G	VUS	1 lab	7ffb30d21b
21:47680810 MCM3AP CTT>C	21	47680810	47680812	CTT	C	MCM3AP	c.3476_3477del	NM_003906.5	NP_003897.2:p.(Gln1159ArgfsTer8)	NC_000021.8:g.47680811_47680812del	VUS	1 lab	7ffbb5613e
19:15302927 NOTCH3 G>A	19	15302927	15302927	G	A	NOTCH3	c.523C>T	NM_000435.3	NP_000426.2:p.(Leu175Phe)	NC_000019.9:g.15302927G>A	VUS	1 lab	7ffc7efbe3
1:8421010 RERE C>T	1	8421010	8421010	C	T	RERE	c.2557G>A	NM_001042681.2	NP_001036146.1:p.(Gly853Ser)	NC_000001.10:g.8421010C>T	(Likely) benign	1 lab	7ffc9a6a33
3:49723916 MST1 T>G	3	49723916	49723916	T	G	MST1	c.848-2A>C	NM_020998.4	NP_066278.3:p.?	NC_000003.11:g.49723916T>G	(Likely) benign	1 lab	7ffca41e08
16:775209 CCDC78 C>G	16	775209	775209	C	G	CCDC78	c.492+28G>C	NM_001378030.1	NP_001364959.1:p.?	NC_000016.9:g.775209C>G	VUS	1 lab	7fff5b7e77
11:68190956 LRP5 G>C	11	68190956	68190956	G	C	LRP5	c.3028-1G>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68190956G>C	(Likely) pathogenic	1 lab	7fffe18415
6:75797436 COL12A1 G>A	6	75797436	75797436	G	A	COL12A1	c.9038C>T	NM_004370.6	NP_004361.3:p.(Pro3013Leu)	NC_000006.11:g.75797436G>A	VUS	1 lab	80004b44c2
1:11887210 CLCN6 A>G	1	11887210	11887210	A	G	CLCN6	c.772A>G	NM_001286.5	NP_001277.2:p.(Ile258Val)	NC_000001.10:g.11887210A>G	(Likely) benign	1 lab	8000a7abc8
X:50377785 SHROOM4 C>A	X	50377785	50377785	C	A	SHROOM4	c.1288G>T	NM_020717.5	NP_065768.2:p.(Gly430Cys)	NC_000023.10:g.50377785C>A	(Likely) benign	1 lab	80030308a8
1:11316159 MTOR A>G	1	11316159	11316159	A	G	MTOR	c.595T>C	NM_004958.4	NP_004949.1:p.(Trp199Arg)	NC_000001.10:g.11316159A>G	VUS	1 lab	800410b7a9
1:43919081 HYI T>C	1	43919081	43919081	T	C	HYI	c.287A>G	NM_001190880.3	NP_001177809.1:p.(Tyr96Cys)	NC_000001.10:g.43919081T>C	(Likely) benign	1 lab	80074d035f
15:99500432 IGF1R G>A	15	99500432	99500432	G	A	IGF1R	c.3865G>A	NM_000875.5	NP_000866.1:p.(Glu1289Lys)	NC_000015.9:g.99500432G>A	VUS	1 lab	80075f99b2
16:29825738 PRRT2 G>T	16	29825738	29825738	G	T	PRRT2	c.964G>T	NM_145239.3	NP_660282.2:p.(Val322Leu)	NC_000016.9:g.29825738G>T	VUS	1 lab	800837157c
4:123150376 BLTP1 G>T	4	123150376	123150376	G	T	BLTP1	c.3023G>T	NM_001384125.1	NP_001371054.1:p.(Gly1008Val)	NC_000004.11:g.123150376G>T	VUS	1 lab	8009b3e62a
22:45723897 SIRAL2 C>T	22	45723897	45723897	C	T	SIRAL2	c.475C>T	NM_017911.4	NP_060381.2:p.(Arg159Trp)	NC_000022.10:g.45723897C>T	VUS	1 lab	800a5bb5b1
12:11286438 TAS2R30 G>A	12	11286438	11286438	G	A	TAS2R30	c.406C>T	NM_001097643.2	NP_001091112.1:p.(Pro136Ser)	NC_000012.11:g.11286438G>A	(Likely) benign	1 lab	800bb03904
1:2436536 PLCH2 C>T	1	2436536	2436536	C	T	PLCH2	c.4135C>T	NM_014638.4	NP_055453.2:p.(Pro1379Ser)	NC_000001.10:g.2436536C>T	(Likely) benign	1 lab	800c313498
19:15290062 NOTCH3 G>A	19	15290062	15290062	G	A	NOTCH3	c.3492C>T	NM_000435.3	NP_000426.2:p.(Cys1164=)	NC_000019.9:g.15290062G>A	(Likely) benign	1 lab	800d154c2c
14:105781260 PACS2 C>A	14	105781260	105781260	C	A	PACS2	c.5C>A	NM_001100913.3	NP_001094383.2:p.(Ala2Asp)	NC_000014.8:g.105781260C>A	VUS	1 lab	801016eb23
7:99701274 AP4M1 A>C	7	99701274	99701274	A	C	AP4M1	c.502A>C	NM_004722.4	NP_004713.2:p.(Ser168Arg)	NC_000007.13:g.99701274A>C	(Likely) benign	1 lab	8012291554
X:41000604 USP9X G>C	X	41000604	41000604	G	C	USP9X	c.1081G>C	NM_001039591.3	NP_001034680.2:p.(Val361Leu)	NC_000023.10:g.41000604G>C	VUS	1 lab	8012703c93
16:54145786 FTO G>T	16	54145786	54145786	G	T	FTO	c.1477G>T	NM_001080432.3	NP_001073901.1:p.(Val493Phe)	NC_000016.9:g.54145786G>T	(Likely) benign	1 lab	80151a4f12
12:121435373 HNF1A ACCCCT>A	12	121435373	121435380	ACCCCT	A	HNF1A	c.1409_1413del	NM_000545.8	NP_000536.6:p.(Pro470LeufsTer77)	NC_000012.11:g.121435376_121435380del	(Likely) pathogenic	1 lab	80156b7151
13:37580078 EXOSC8 C>A	13	37580078	37580078	C	A	EXOSC8	c.260C>A	NM_181503.3	NP_852480.1:p.(Pro87His)	NC_000013.10:g.37580078C>A	(Likely) benign	1 lab	8016273b79
16:3304660 MEFV C>T	16	3304660	3304660	C	T	MEFV	c.408G>A	NM_000243.2	NP_000234.1:p.(Gly136=)	NC_000016.9:g.3304660C>T	(Likely) benign	1 lab	258aa29f92
13:28494373 PDX1 C>A	13	28494373	28494373	C	A	PDX1	c.98C>A	NM_000209.4	NP_000200.1:p.(Pro33His)	NC_000013.10:g.28494373C>A	VUS	1 lab	80274b635e
6:132181533 ENPP1 T>C	6	132181533	132181533	T	C	ENPP1	c.802T>C	NM_006208.3	NP_006199.2:p.(Tyr268His)	NC_000006.11:g.132181533T>C	VUS	1 lab	8016ba37f6
19:38951182 RYR1 G>A	19	38951182	38951182	G	A	RYR1	c.2528G>A	NM_000540.3	NP_000531.2:p.(Arg843His)	NC_000019.9:g.38951182G>A	(Likely) benign	1 lab	801907f0de
17:29298390 RNF135 A>G	17	29298390	29298390	A	G	RNF135	c.299A>G	NM_032322.4	NP_115698.3:p.(His100Arg)	NC_000017.10:g.29298390A>G	(Likely) benign	1 lab	801a6c46e1
9:35806118 NPR2 C>T	9	35806118	35806118	C	T	NPR2	c.2260C>T	NM_003995.4	NP_003986.2:p.(Arg754Trp)	NC_000009.11:g.35806118C>T	VUS	1 lab	801cefabf6
18:31324814 ASXL3 G>A	18	31324814	31324814	G	A	ASXL3	c.5002G>A	NM_030632.3	NP_085135.1:p.(Val1668Met)	NC_000018.9:g.31324814G>A	(Likely) benign	1 lab	801df03784
3:39139911 GORASP1 G>A	3	39139911	39139911	G	A	GORASP1	c.1139C>T	NM_031899.4	NP_114105.1:p.(Ala380Val)	NC_000003.11:g.39139911G>A	(Likely) benign	1 lab	801e16b117
4:74000937 ANKRD17 C>G	4	74000937	74000937	C	G	ANKRD17	c.3131G>C	NM_032217.5	NP_115593.3:p.(Ser1044Thr)	NC_000004.11:g.74000937C>G	(Likely) benign	1 lab	80205ff5d7
11:45947685 LARGE2 A>G	11	45947685	45947685	A	G	LARGE2	c.865A>G	NM_001300721.2	NP_001287650.1:p.(Thr289Ala)	NC_000011.9:g.45947685A>G	VUS	1 lab	80208cf14d
22:43272940 PACSIN2 C>T	22	43272940	43272940	C	T	PACSIN2	c.1105G>A	NM_001184970.3	NP_001171899.1:p.(Asp369Asn)	NC_000022.10:g.43272940C>T	(Likely) benign	1 lab	8020a653e0
3:184075626 CLCN2 C>T	3	184075626	184075626	C	T	CLCN2	c.634G>A	NM_004366.6	NP_004357.3:p.(Ala212Thr)	NC_000003.11:g.184075626C>T	VUS	1 lab	802137d221
12:124229424 ATP6V0A2 TAC>T	12	124229424	124229427	TAC	T	ATP6V0A2	c.1515-3_1515-2del	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124229426_124229427del	VUS	1 lab	8021ad4dc0
9:118163563 DELEC1 C>T	9	118163563	118163563	C	T	DELEC1	n.701C>T	NR_163556.1		NC_000009.11:g.118163563C>T	(Likely) benign	1 lab	241004fb37
14:66028301 FUT8 C>T	14	66028301	66028301	C	T	FUT8	c.20C>T	NM_001371533.1	NP_001358462.1:p.(Ser7Phe)	NC_000014.8:g.66028301C>T	VUS	1 lab	8022238f26
22:29730346 AP1B1 G>A	22	29730346	29730346	G	A	AP1B1	c.2217C>T	NM_001127.4	NP_001118.3:p.(Thr739=)	NC_000022.10:g.29730346G>A	(Likely) benign	1 lab	8026b1934c
14:51224428 NIN CAAG>C	14	51224428	51224435	CAAG	C	NIN	c.3317_3319del	NM_020921.4	NP_065972.4:p.(Ser1106del)	NC_000014.8:g.51224433_51224435del	VUS	1 lab	802875bf08
11:212598 RIC8A G>T	11	212598	212598	G	T	RIC8A	c.1066-17G>T	NM_001286134.2	NP_001273063.1:p.?	NC_000011.9:g.212598G>T	(Likely) benign	1 lab	80292417df
2:219507803 ZNF142 CAGG>C	2	219507803	219507808	CAGG	C	ZNF142	c.4033_4035del	NM_001379659.1	NP_001366588.1:p.(Pro1345del)	NC_000002.11:g.219507806_219507808del	VUS	1 lab	802a3dac7e
10:90537955 LIPN C>T	10	90537955	90537955	C	T	LIPN	c.1153C>T	NM_001102469.2	NP_001095939.1:p.(Arg385Trp)	NC_000010.10:g.90537955C>T	VUS	1 lab	802a5c8dd9
1:151381210 POGZ CG>C	1	151381210	151381212	CG	C	POGZ	c.2020del	NM_015100.4	NP_055915.2:p.(Arg674ValfsTer9)	NC_000001.10:g.151381212del	(Likely) pathogenic	1 lab	802c45bc0b
19:49094996 SULT2B1 G>A	19	49094996	49094996	G	A	SULT2B1	c.550+4G>A	NM_177973.2	NP_814444.1:p.?	NC_000019.9:g.49094996G>A	(Likely) benign	1 lab	802ca6e523
16:89628169 RPL13 C>T	16	89628169	89628169	C	T	RPL13	c.420+10C>T	NM_000977.4	NP_000968.2:p.?	NC_000016.9:g.89628169C>T	(Likely) benign	1 lab	802d4a9484
11:128709183 KCNJ1 C>T	11	128709183	128709183	C	T	KCNJ1	c.956G>A	NM_153766.3	NP_722450.1:p.(Arg319Gln)	NC_000011.9:g.128709183C>T	(Likely) benign	1 lab	802e4d4f62
2:179446418 TTN C>T	2	179446418	179446418	C	T	TTN	c.66577G>A	NM_001267550.2	NP_001254479.2:p.(Val22193Ile)	NC_000002.11:g.179446418C>T	(Likely) benign	1 lab	802eba617b
17:40371774 STAT5B C>A	17	40371774	40371774	C	A	STAT5B	c.637G>T	NM_012448.4	NP_036580.2:p.(Ala213Ser)	NC_000017.10:g.40371774C>A	(Likely) benign	1 lab	802f072218
14:64519542 SYNE2 C>G	14	64519542	64519542	C	G	SYNE2	c.8911C>G	NM_182914.2	NP_878918.2:p.(Gln2971Glu)	NC_000014.8:g.64519542C>G	(Likely) benign	1 lab	258e02f353
2:109336145 RANBP2 C>G	2	109336145	109336145	C	G	RANBP2	c.72+11C>G	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109336145C>G	(Likely) benign	1 lab	258fa2abe8
19:13319693 CACNA1A ATGGTGG>A	19	13319693	13319722	ATGGTGG	A	CACNA1A	c.6651_6656del	NM_001127222.2	NP_001120694.1:p.(His2218_His2219del)	NC_000019.9:g.13319717_13319722del	VUS	1 lab	8032850d93
8:22034161 BMP1 C>T	8	22034161	22034161	C	T	BMP1	c.549C>T	NM_006129.5	NP_006120.1:p.(Cys183=)	NC_000008.10:g.22034161C>T	VUS	1 lab	803364df1c
16:1642571 IFT140 A>G	16	1642571	1642571	A	G	IFT140	c.388T>C	NM_014714.4	NP_055529.2:p.(Trp130Arg)	NC_000016.9:g.1642571A>G	VUS	1 lab	8034673c0d
8:61735064 CHD7 G>A	8	61735064	61735064	G	A	CHD7	c.2960G>A	NM_017780.4	NP_060250.2:p.(Arg987Gln)	NC_000008.10:g.61735064G>A	VUS	1 lab	803499c36f
5:154267946 GEMIN5 C>T	5	154267946	154267946	C	T	GEMIN5	c.4360-9G>A	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154267946C>T	(Likely) benign	1 lab	8035bcd525
X:129499600 SLC25A14 A>G	X	129499600	129499600	A	G	SLC25A14	c.805A>G	NM_001282195.2	NP_001269124.1:p.(Ile269Val)	NC_000023.10:g.129499600A>G	VUS	1 lab	803611b709
7:92731206 SAMD9 G>C	7	92731206	92731206	G	C	SAMD9	c.4205C>G	NM_017654.4	NP_060124.2:p.(Ser1402Cys)	NC_000007.13:g.92731206G>C	VUS	1 lab	80361fd4b2
11:61089859 DDB1 C>A	11	61089859	61089859	C	A	DDB1	c.1031G>T	NM_001923.5	NP_001914.3:p.(Gly344Val)	NC_000011.9:g.61089859C>A	VUS	1 lab	803785e23c
7:6470196 DAGLB T>G	7	6470196	6470196	T	G	DAGLB	c.844A>C	NM_139179.4	NP_631918.3:p.(Met282Leu)	NC_000007.13:g.6470196T>G	VUS	1 lab	8037de3639
14:79111646 NRXN3 C>T	14	79111646	79111646	C	T	NRXN3	c.941C>T	NM_001330195.2	NP_001317124.1:p.(Ala314Val)	NC_000014.8:g.79111646C>T	VUS	1 lab	803a61f391
14:20916137 OSGEP A>G	14	20916137	20916137	A	G	OSGEP	c.719T>C	NM_017807.4	NP_060277.1:p.(Met240Thr)	NC_000014.8:g.20916137A>G	VUS	1 lab	803b1bdfed
16:88804150 PIEZO1 G>A	16	88804150	88804150	G	A	PIEZO1	c.1093C>T	NM_001142864.4	NP_001136336.2:p.(Arg365Trp)	NC_000016.9:g.88804150G>A	(Likely) benign	1 lab	803b46c841
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.121-27_121-3dup	NM_201596.3	NP_963890.2:p.?	NC_000010.10:g.18439785_18439809dup	VUS	1 lab	803c6f6214
17:78084624 GAA C>T	17	78084624	78084624	C	T	GAA	c.1536C>T	NM_000152.5	NP_000143.2:p.(Phe512=)	NC_000017.10:g.78084624C>T	(Likely) benign	1 lab	803cafc364
9:139417518 NOTCH1 G>A	9	139417518	139417518	G	A	NOTCH1	c.526C>T	NM_017617.5	NP_060087.3:p.(Arg176Trp)	NC_000009.11:g.139417518G>A	VUS	1 lab	803cc0fa1e
22:40814748 MRTFA G>C	22	40814748	40814748	G	C	MRTFA	c.1994C>G	NM_020831.6	NP_065882.2:p.(Ala665Gly)	NC_000022.10:g.40814748G>C	VUS	1 lab	80409f5014
X:24331365 SUPT20HL2 C>G	X	24331365	24331365	C	G	SUPT20HL2	c.68G>C	NM_001136233.3	NP_001129705.3:p.(Arg23Pro)	NC_000023.10:g.24331365C>G	(Likely) benign	1 lab	8041fa98e6
7:128415860 OPN1SW C>T	7	128415860	128415860	C	T	OPN1SW				NC_000007.13:g.128415860C>T	(Likely) benign	1 lab	2410c2d551
2:231086402 SP110 A>T	2	231086402	231086402	A	T	SP110	c.17+18T>A	NM_001185015.2	NP_001171944.1:p.?	NC_000002.11:g.231086402A>T	(Likely) benign	1 lab	2590c1aa6d
2:33505139 LTBP1 C>A	2	33505139	33505139	C	A	LTBP1	c.3026C>A	NM_206943.4	NP_996826.3:p.(Pro1009Gln)	NC_000002.11:g.33505139C>A	(Likely) benign	1 lab	804624126c
7:91865826 KRIT1 C>T	7	91865826	91865826	C	T	KRIT1	c.386G>A	NM_194454.3	NP_919436.1:p.(Cys129Tyr)	NC_000007.13:g.91865826C>T	(Likely) benign	1 lab	8046650269
11:6643749 DCHS1 A>T	11	6643749	6643749	A	T	DCHS1	c.9158T>A	NM_003737.4	NP_003728.1:p.(Val3053Glu)	NC_000011.9:g.6643749A>T	(Likely) benign	1 lab	80467d00e6
9:135946735 CEL C>A	9	135946735	135946735	C	A	CEL	c.1846C>A	NM_001807.6	NP_001798.3:p.(Pro616Thr)	NC_000009.11:g.135946735C>A	(Likely) benign	1 lab	8047834e72
16:3778427 CREBBP T>C	16	3778427	3778427	T	C	CREBBP	c.6621A>G	NM_004380.3	NP_004371.2:p.(Gln2207=)	NC_000016.9:g.3778427T>C	(Likely) benign	1 lab	80497176c0
2:33518244 LTBP1 G>A	2	33518244	33518244	G	A	LTBP1	c.3130G>A	NM_206943.4	NP_996826.3:p.(Glu1044Lys)	NC_000002.11:g.33518244G>A	(Likely) benign	1 lab	804b9f9fa1
21:47545506 COL6A2 C>T	21	47545506	47545506	C	T	COL6A2	c.1944C>T	NM_001849.4	NP_001840.3:p.(Ile648=)	NC_000021.8:g.47545506C>T	(Likely) benign	1 lab	804bf34903
8:144995508 PLEC G>A	8	144995508	144995508	G	A	PLEC	c.8481C>T	NM_201384.3	NP_958786.1:p.(Asp2827=)	NC_000008.10:g.144995508G>A	(Likely) benign	1 lab	804c9b9d06
12:112608945 HECTD4 C>T	12	112608945	112608945	C	T	HECTD4	c.11908G>A	NM_001388303.1	NP_001375232.1:p.(Ala3970Thr)	NC_000012.11:g.112608945C>T	VUS	1 lab	804d3e4dc8
21:34924300 SON C>A	21	34924300	34924300	C	A	SON	c.2763C>A	NM_138927.4	NP_620305.3:p.(Tyr921Ter)	NC_000021.8:g.34924300C>A	(Likely) pathogenic	1 lab	805093a337
4:17503336 QDPR G>A	4	17503336	17503336	G	A	QDPR	c.436+6C>T	NM_000320.3	NP_000311.2:p.?	NC_000004.11:g.17503336G>A	(Likely) benign	1 lab	8050cfa4d9
4:159603518 ETFDH G>A	4	159603518	159603518	G	A	ETFDH	c.347G>A	NM_004453.4	NP_004444.2:p.(Gly116Glu)	NC_000004.11:g.159603518G>A	VUS	1 lab	80521fa4cc
16:72821547 ZFHX3 G>C	16	72821547	72821547	G	C	ZFHX3	c.10628C>G	NM_006885.4	NP_008816.3:p.(Ala3543Gly)	NC_000016.9:g.72821547G>C	(Likely) benign	1 lab	8053ffd3cd
22:19511877 CLDN5 C>T	22	19511877	19511877	C	T	CLDN5	c.-99G>A	NM_001363066.2	NP_001349995.1:p.?	NC_000022.10:g.19511877C>T	VUS	1 lab	80545c8fe1
2:238280704 COL6A3 A>G	2	238280704	238280704	A	G	COL6A3	c.3956T>C	NM_004369.4	NP_004360.2:p.(Val1319Ala)	NC_000002.11:g.238280704A>G	VUS	1 lab	80547b3cd7
16:56533685 BBS2 C>G	16	56533685	56533685	C	G	BBS2	c.1527+5G>C	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56533685C>G	VUS	1 lab	8054f82c8b
16:2153414 PKD1 A>T	16	2153414	2153414	A	T	PKD1	c.8644T>A	NM_001009944.3	NP_001009944.3:p.(Trp2882Arg)	NC_000016.9:g.2153414A>T	(Likely) benign	1 lab	80567e78fa
1:156107848 LMNA C>T	1	156107848	156107848	C	T	LMNA	c.1698+314C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156107848C>T	(Likely) benign	1 lab	8056ea8bbe
1:156105927 LMNA C>T	1	156105927	156105927	C	T	LMNA	c.1157+15C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105927C>T	(Likely) benign	1 lab	805776574a
6:75893126 COL12A1 G>A	6	75893126	75893126	G	A	COL12A1	c.1531C>T	NM_004370.6	NP_004361.3:p.(Pro511Ser)	NC_000006.11:g.75893126G>A	VUS	1 lab	80582a497b
2:108473216 RGPD4 G>A	2	108473216	108473216	G	A	RGPD4	c.1067G>A	NM_182588.3	NP_872394.2:p.(Gly356Glu)	NC_000002.11:g.108473216G>A	(Likely) benign	1 lab	8059048dac
3:47125395 SETD2 C>T	3	47125395	47125395	C	T	SETD2	c.5875G>A	NM_014159.7	NP_054878.5:p.(Glu1959Lys)	NC_000003.11:g.47125395C>T	(Likely) benign	1 lab	80590f27b2
19:50747555 MYH14 G>A	19	50747555	50747555	G	A	MYH14	c.1171G>A	NM_001145809.2	NP_001139281.1:p.(Glu391Lys)	NC_000019.9:g.50747555G>A	VUS	1 lab	805a9b6e24
19:42791268 CIC C>A	19	42791268	42791268	C	A	CIC	c.3055C>A	NM_001386298.1	NP_001373227.1:p.(Pro1019Thr)	NC_000019.9:g.42791268C>A	VUS	1 lab	805bd37439
9:371420 DOCK8 T>G	9	371420	371420	T	G	DOCK8	c.1869-8T>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.371420T>G	(Likely) benign	1 lab	805cec741c
13:25459467 CPAP C>T	13	25459467	25459467	C	T	CPAP	c.3424G>A	NM_018451.5	NP_060921.3:p.(Glu1142Lys)	NC_000013.10:g.25459467C>T	(Likely) benign	1 lab	805db1b271
9:139983431 MAN1B1 G>C	9	139983431	139983431	G	C	MAN1B1	c.439G>C	NM_016219.5	NP_057303.2:p.(Glu147Gln)	NC_000009.11:g.139983431G>C	VUS	1 lab	805eadd322
8:11614583 GATA4 C>T	8	11614583	11614583	C	T	GATA4	c.1140C>T	NM_001308093.3	NP_001295022.1:p.(Ser380=)	NC_000008.10:g.11614583C>T	(Likely) benign	1 lab	805ecf81df
6:42975221 PPP2R5D A>G	6	42975221	42975221	A	G	PPP2R5D	c.703A>G	NM_006245.4	NP_006236.1:p.(Ile235Val)	NC_000006.11:g.42975221A>G	VUS	1 lab	805f6785f1
2:173352962 ITGA6 T>A	2	173352962	173352962	T	A	ITGA6	c.2505+6T>A	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173352962T>A	VUS	1 lab	8060b27d2b
10:97453636 TCTN3 C>T	10	97453636	97453636	C	T	TCTN3	c.21G>A	NM_015631.6	NP_056446.4:p.(Ala7=)	NC_000010.10:g.97453636C>T	(Likely) benign	1 lab	2595513e27
22:46933010 CELSR1 CGGCGGCGGCGGCCAGGAGCAGCAGCACGGGCAGCACG>C	22	46933010	46933059	CGGCGGCGGCGGCCAGGAGCAGCAGCACGGGCAGCACG	C	CELSR1	c.21_57del	NM_001378328.1	NP_001365257.1:p.(Val8ProfsTer82)	NC_000022.10:g.46933023_46933059del	VUS	1 lab	8061d1c3b4
1:19566354 EMC1 C>A	1	19566354	19566354	C	A	EMC1	c.912G>T	NM_015047.3	NP_055862.1:p.(Gln304His)	NC_000001.10:g.19566354C>A	(Likely) benign	1 lab	80628f873c
4:79430030 FRAS1 G>A	4	79430030	79430030	G	A	FRAS1	c.9650G>A	NM_025074.7	NP_079350.5:p.(Ser3217Asn)	NC_000004.11:g.79430030G>A	VUS	1 lab	8062ed35e5
13:111279844 NAXD G>A	13	111279844	111279844	G	A	NAXD	c.391G>A	NM_001242882.2	NP_001229811.1:p.(Val131Ile)	NC_000013.10:g.111279844G>A	(Likely) benign	1 lab	80633cc1d0
9:5080373 JAK2 C>A	9	5080373	5080373	C	A	JAK2	c.2276C>A	NM_004972.4	NP_004963.1:p.(Ser759Tyr)	NC_000009.11:g.5080373C>A	(Likely) benign	1 lab	806374849b
2:48026544 MSH6 G>A	2	48026544	48026544	G	A	MSH6	c.1422G>A	NM_000179.3	NP_000170.1:p.(Val474=)	NC_000002.11:g.48026544G>A	VUS	1 lab	80649c5c62
20:62326964 RTEL1 C>G	20	62326964	62326964	C	G	RTEL1	c.3783C>G	NM_001283009.2	NP_001269938.1:p.(Asp1261Glu)	NC_000020.10:g.62326964C>G	VUS	1 lab	8065a5cde4
5:74681777 CERT1 T>C	5	74681777	74681777	T	C	CERT1	c.1367A>G	NM_001379029.1	NP_001365958.1:p.(His456Arg)	NC_000005.9:g.74681777T>C	VUS	1 lab	8066d229ea
14:20839766 TEP1 C>T	14	20839766	20839766	C	T	TEP1	c.7102G>A	NM_007110.5	NP_009041.2:p.(Glu2368Lys)	NC_000014.8:g.20839766C>T	(Likely) benign	1 lab	8067265b01
18:44756907 SKOR2 A>C	18	44756907	44756907	A	C	SKOR2	c.2840T>G	NM_001278063.4	NP_001264992.1:p.(Phe947Cys)	NC_000018.9:g.44756907A>C	(Likely) benign	1 lab	8069e52640
15:41861163 TYRO3 G>A	15	41861163	41861163	G	A	TYRO3	c.1195G>A	NM_006293.4	NP_006284.2:p.(Ala399Thr)	NC_000015.9:g.41861163G>A	(Likely) benign	1 lab	806ae61881
X:77268516 ATP7A G>C	X	77268516	77268516	G	C	ATP7A	c.2313G>C	NM_000052.7	NP_000043.4:p.(Glu771Asp)	NC_000023.10:g.77268516G>C	VUS	1 lab	806b3fc190
2:218686529 TNS1 G>T	2	218686529	218686529	G	T	TNS1	c.3506C>A	NM_001387777.1	NP_001374706.1:p.(Thr1169Asn)	NC_000002.11:g.218686529G>T	(Likely) benign	1 lab	806c697a43
2:210680093 UNC80 T>C	2	210680093	210680093	T	C	UNC80	c.1313T>C	NM_001371986.1	NP_001358915.1:p.(Leu438Pro)	NC_000002.11:g.210680093T>C	VUS	1 lab	806cc8f21e
11:551161 LRRC56 G>A	11	551161	551161	G	A	LRRC56	c.655G>A	NM_198075.4	NP_932341.1:p.(Val219Met)	NC_000011.9:g.551161G>A	VUS	1 lab	807084cd8f
1:155317547 ASH1L G>A	1	155317547	155317547	G	A	ASH1L	c.7703C>T	NM_018489.3	NP_060959.2:p.(Ser2568Phe)	NC_000001.10:g.155317547G>A	VUS	1 lab	80708b060c
1:35452986 ZMYM6 C>T	1	35452986	35452986	C	T	ZMYM6	c.3697G>A	NM_007167.4	NP_009098.3:p.(Glu1233Lys)	NC_000001.10:g.35452986C>T	(Likely) benign	1 lab	80737f0685
12:116446199 MED13L G>A	12	116446199	116446199	G	A	MED13L	c.2012+7C>T	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116446199G>A	VUS	1 lab	8073db83e2
18:45395766 SMAD2 A>C	18	45395766	45395766	A	C	SMAD2	c.368T>G	NM_005901.6	NP_005892.1:p.(Leu123Trp)	NC_000018.9:g.45395766A>C	VUS	1 lab	8074c814bf
22:30419470 MTMR3 G>A	22	30419470	30419470	G	A	MTMR3	c.3425+784G>A	NM_021090.4	NP_066576.1:p.?	NC_000022.10:g.30419470G>A	VUS	1 lab	807504257e
21:43896082 RSPH1 T>C	21	43896082	43896082	T	C	RSPH1	c.803A>G	NM_080860.4	NP_543136.1:p.(Asp268Gly)	NC_000021.8:g.43896082T>C	VUS	1 lab	80759fa8f2
16:730569 STUB1 C>T	16	730569	730569	C	T	STUB1	c.44C>T	NM_005861.4	NP_005852.2:p.(Ala15Val)	NC_000016.9:g.730569C>T	VUS	1 lab	8075b9217a
12:21998774 ABCC9 CA>C	12	21998774	21998780	CA	C	ABCC9	c.2867-9del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21998780del	VUS	1 lab	8075bb903c
1:120484215 NOTCH2 G>A	1	120484215	120484215	G	A	NOTCH2	c.2915C>T	NM_024408.4	NP_077719.2:p.(Thr972Ile)	NC_000001.10:g.120484215G>A	VUS	1 lab	807622f48b
15:64041878 HERC1 A>T	15	64041878	64041878	A	T	HERC1	c.2015T>A	NM_003922.4	NP_003913.3:p.(Ile672Asn)	NC_000015.9:g.64041878A>T	VUS	1 lab	80765fd44f
2:86266531 POLR1A G>T	2	86266531	86266531	G	T	POLR1A	c.3795C>A	NM_015425.6	NP_056240.2:p.(Ser1265Arg)	NC_000002.11:g.86266531G>T	VUS	1 lab	80768a6dae
10:112559669 RBM20 A>C	10	112559669	112559669	A	C	RBM20	c.1793A>C	NM_001134363.3	NP_001127835.2:p.(Gln598Pro)	NC_000010.10:g.112559669A>C	VUS	1 lab	8076d7283c
20:45017847 ELMO2 G>A	20	45017847	45017847	G	A	ELMO2	c.256C>T	NM_133171.5	NP_573403.1:p.(Arg86Cys)	NC_000020.10:g.45017847G>A	VUS	1 lab	80790a01de
1:230415130 GALNT2 G>T	1	230415130	230415130	G	T	GALNT2	c.1642G>T	NM_004481.5	NP_004472.1:p.(Gly548Trp)	NC_000001.10:g.230415130G>T	VUS	1 lab	80793a58bd
1:120483174 NOTCH2 T>C	1	120483174	120483174	T	C	NOTCH2	c.3183+4A>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120483174T>C	(Likely) benign	1 lab	807a2a661a
14:101350274 RTL1 C>T	14	101350274	101350274	C	T	RTL1	c.852G>A	NM_001134888.3	NP_001128360.1:p.(Leu284=)	NC_000014.8:g.101350274C>T	(Likely) benign	1 lab	807b15bd44
2:197122586 HECW2 A>G	2	197122586	197122586	A	G	HECW2	c.3380T>C	NM_001348768.2	NP_001335697.1:p.(Val1127Ala)	NC_000002.11:g.197122586A>G	(Likely) benign	1 lab	807cdad85d
7:42187884 GLI3 G>A	7	42187884	42187884	G	A	GLI3	c.308C>T	NM_000168.6	NP_000159.3:p.(Pro103Leu)	NC_000007.13:g.42187884G>A	VUS	1 lab	807dac38e3
11:66619993 PC C>T	11	66619993	66619993	C	T	PC	c.1742G>A	NM_001040716.2	NP_001035806.1:p.(Arg581His)	NC_000011.9:g.66619993C>T	VUS	1 lab	807ff2b5c2
20:50408699 SALL4 C>T	20	50408699	50408699	C	T	SALL4	c.323G>A	NM_020436.5	NP_065169.1:p.(Gly108Glu)	NC_000020.10:g.50408699C>T	VUS	1 lab	8080395df2
12:116424229 MED13L G>C	12	116424229	116424229	G	C	MED13L	c.4180C>G	NM_015335.5	NP_056150.1:p.(Leu1394Val)	NC_000012.11:g.116424229G>C	VUS	1 lab	8081633333
X:66931313 AR C>T	X	66931313	66931313	C	T	AR	c.1955C>T	NM_000044.6	NP_000035.2:p.(Pro652Leu)	NC_000023.10:g.66931313C>T	VUS	1 lab	8081a369f3
16:89253883 CDH15 G>C	16	89253883	89253883	G	C	CDH15	c.710G>C	NM_004933.3	NP_004924.1:p.(Gly237Ala)	NC_000016.9:g.89253883G>C	VUS	1 lab	80824b8a1d
9:94486078 ROR2 C>T	9	94486078	94486078	C	T	ROR2	c.2698G>A	NM_004560.4	NP_004551.2:p.(Ala900Thr)	NC_000009.11:g.94486078C>T	(Likely) benign	1 lab	808283697d
4:1348597 UVSSA C>T	4	1348597	1348597	C	T	UVSSA	c.1009C>T	NM_020894.4	NP_065945.2:p.(Arg337Trp)	NC_000004.11:g.1348597C>T	VUS	1 lab	8084c11fb1
4:103806364 CISD2 C>A	4	103806364	103806364	C	A	CISD2	c.104-9C>A	NM_001008388.5	NP_001008389.1:p.?	NC_000004.11:g.103806364C>A	(Likely) benign	1 lab	80861568e6
6:51944718 PKHD1 G>A	6	51944718	51944718	G	A	PKHD1	c.370C>T	NM_138694.4	NP_619639.3:p.(Arg124Ter)	NC_000006.11:g.51944718G>A	(Likely) pathogenic	1 lab	80871b60df
11:78282425 NARS2 G>C	11	78282425	78282425	G	C	NARS2	c.206C>G	NM_024678.6	NP_078954.4:p.(Ser69Cys)	NC_000011.9:g.78282425G>C	VUS	1 lab	808776bb7b
15:72037577 THSD4 A>C	15	72037577	72037577	A	C	THSD4	c.956+3A>C	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72037577A>C	VUS	1 lab	2414facfa5
6:116442897 COL10A1 C>T	6	116442897	116442897	C	T	COL10A1	c.382G>A	NM_000493.4	NP_000484.2:p.(Asp128Asn)	NC_000006.11:g.116442897C>T	(Likely) benign	1 lab	808a75045b
1:155870205 RIT1 G>A	1	155870205	155870205	G	A	RIT1	c.634C>T	NM_006912.6	NP_008843.1:p.(Arg212Trp)	NC_000001.10:g.155870205G>A	VUS	1 lab	808b3c0bdd
3:57419439 DNAH12 C>G	3	57419439	57419439	C	G	DNAH12	c.4772G>C	NM_001366028.2	NP_001352957.1:p.(Arg1591Thr)	NC_000003.11:g.57419439C>G	(Likely) benign	1 lab	808b69403e
15:89402046 ACAN G>C	15	89402046	89402046	G	C	ACAN	c.6230G>C	NM_001369268.1	NP_001356197.1:p.(Gly2077Ala)	NC_000015.9:g.89402046G>C	(Likely) benign	1 lab	808b835794
3:128848986 ISY1 T>A	3	128848986	128848986	T	A	ISY1	c.796A>T	NM_020701.4	NP_065752.1:p.(Lys266Ter)	NC_000003.11:g.128848986T>A	VUS	1 lab	808d457aad
8:77766379 ZFHX4 T>C	8	77766379	77766379	T	C	ZFHX4	c.7222T>C	NM_024721.5	NP_078997.4:p.(Tyr2408His)	NC_000008.10:g.77766379T>C	(Likely) benign	1 lab	808dabefda
15:101791447 CHSY1 G>A	15	101791447	101791447	G	A	CHSY1	c.215C>T	NM_014918.5	NP_055733.2:p.(Pro72Leu)	NC_000015.9:g.101791447G>A	(Likely) benign	1 lab	808ddbb8d3
21:38879505 DYRK1A C>T	21	38879505	38879505	C	T	DYRK1A	c.1644+979C>T	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38879505C>T	(Likely) benign	1 lab	808f0e2825
11:61541431 MYRF C>T	11	61541431	61541431	C	T	MYRF	c.1116-8C>T	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61541431C>T	(Likely) benign	1 lab	808f29f43d
17:78064026 CCDC40 G>A	17	78064026	78064026	G	A	CCDC40	c.2832+343G>A	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064026G>A	(Likely) benign	1 lab	80914386ef
7:48314139 ABCA13 A>T	7	48314139	48314139	A	T	ABCA13	c.4876A>T	NM_152701.5	NP_689914.3:p.(Lys1626Ter)	NC_000007.13:g.48314139A>T	VUS	1 lab	80940e8a12
1:156883283 PEAR1 G>A	1	156883283	156883283	G	A	PEAR1	c.2612G>A	NM_001080471.3	NP_001073940.1:p.(Arg871His)	NC_000001.10:g.156883283G>A	VUS	1 lab	80943d1564
20:62371833 SLC2A4RG C>T	20	62371833	62371833	C	T	SLC2A4RG	c.230C>T	NM_020062.4	NP_064446.2:p.(Ala77Val)	NC_000020.10:g.62371833C>T	VUS	1 lab	8094b81be4
17:65871866 BPTF G>C	17	65871866	65871866	G	C	BPTF	c.1864+730G>C	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65871866G>C	(Likely) benign	1 lab	8095a3ad41
X:53263450 IQSEC2 G>A	X	53263450	53263450	G	A	IQSEC2	c.4418C>T	NM_001111125.3	NP_001104595.1:p.(Pro1473Leu)	NC_000023.10:g.53263450G>A	VUS	1 lab	809826af19
16:89882300 FANCA ATTCAGG>A	16	89882300	89882307	ATTCAGG	A	FANCA	c.168_173del	NM_000135.4	NP_000126.2:p.(Leu57_Asn58del)	NC_000016.9:g.89882302_89882307del	VUS	1 lab	80982a9e40
11:46916303 LRP4 C>T	11	46916303	46916303	C	T	LRP4	c.1377G>A	NM_002334.3	NP_002325.2:p.(Glu459=)	NC_000011.9:g.46916303C>T	(Likely) benign	1 lab	25985a73d6
10:73768125 CHST3 C>T	10	73768125	73768125	C	T	CHST3	c.1336C>T	NM_004273.5	NP_004264.2:p.(Pro446Ser)	NC_000010.10:g.73768125C>T	(Likely) benign	1 lab	809a13312b
14:32295852 NUBPL A>C	14	32295852	32295852	A	C	NUBPL	c.625A>C	NM_025152.3	NP_079428.2:p.(Thr209Pro)	NC_000014.8:g.32295852A>C	VUS	1 lab	80cb7f45ed
2:68717350 APLF A>T	2	68717350	68717350	A	T	APLF	c.125A>T	NM_173545.3	NP_775816.1:p.(His42Leu)	NC_000002.11:g.68717350A>T	(Likely) benign	1 lab	809a6285c9
1:201181502 IGFN1 A>C	1	201181502	201181502	A	C	IGFN1	c.7481A>C	NM_001164586.2	NP_001158058.1:p.(Gln2494Pro)	NC_000001.10:g.201181502A>C	VUS	1 lab	809bbf3786
11:108100047 ATM A>G	11	108100047	108100047	A	G	ATM	c.328A>G	NM_000051.4	NP_000042.3:p.(Arg110Gly)	NC_000011.9:g.108100047A>G	VUS	1 lab	809cd63cb4
2:178364344 AGPS A>T	2	178364344	178364344	A	T	AGPS	c.1363-2A>T	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178364344A>T	(Likely) benign	1 lab	80a213f506
11:17409360 KCNJ11 G>A	11	17409360	17409360	G	A	KCNJ11	c.279C>T	NM_000525.4	NP_000516.3:p.(Ile93=)	NC_000011.9:g.17409360G>A	(Likely) benign	1 lab	80a2fef022
13:110839512 COL4A1 C>T	13	110839512	110839512	C	T	COL4A1	c.1701G>A	NM_001845.6	NP_001836.3:p.(Pro567=)	NC_000013.10:g.110839512C>T	(Likely) benign	1 lab	80a3a69849
4:122769999 BBS7 C>T	4	122769999	122769999	C	T	BBS7	c.934G>A	NM_176824.3	NP_789794.1:p.(Gly312Ser)	NC_000004.11:g.122769999C>T	VUS	1 lab	80a3d43571
19:42566942 GRIK5 A>G	19	42566942	42566942	A	G	GRIK5	c.310T>C	NM_002088.5	NP_002079.3:p.(Ser104Pro)	NC_000019.9:g.42566942A>G	(Likely) benign	1 lab	80a3f313bf
17:40490806 STAT3 C>T	17	40490806	40490806	C	T	STAT3	c.493G>A	NM_139276.3	NP_644805.1:p.(Val165Ile)	NC_000017.10:g.40490806C>T	(Likely) benign	1 lab	80a67bd4ba
5:59189298 PDE4D A>G	5	59189298	59189298	A	G	PDE4D	c.152T>C	NM_001104631.2	NP_001098101.1:p.(Leu51Pro)	NC_000005.9:g.59189298A>G	(Likely) benign	1 lab	80a6b0f7c3
2:36726437 CRIM1 T>G	2	36726437	36726437	T	G	CRIM1	c.1448T>G	NM_016441.3	NP_057525.1:p.(Ile483Ser)	NC_000002.11:g.36726437T>G	(Likely) benign	1 lab	80a75698b1
9:740787 KANK1 T>TA	9	740787	740788	T	TA	KANK1	c.3554-4dup	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740788dup	VUS	1 lab	80a9eae719
11:71152307 DHCR7 T>C	11	71152307	71152307	T	C	DHCR7	c.592A>G	NM_001360.3	NP_001351.2:p.(Lys198Glu)	NC_000011.9:g.71152307T>C	(Likely) pathogenic	1 lab	80aa7589e4
3:53265464 TKT ATCT>A	3	53265464	53265471	ATCT	A	TKT	c.848_850del	NM_001064.4	NP_001055.1:p.(Lys283del)	NC_000003.11:g.53265469_53265471del	VUS	1 lab	80ab8d6ebc
X:24227225 ZFX C>T	X	24227225	24227225	C	T	ZFX	c.1234+68C>T	NM_003410.4	NP_003401.2:p.?	NC_000023.10:g.24227225C>T	(Likely) benign	1 lab	80ac905b5a
11:58919367 FAM111A AG>A	11	58919367	58919369	AG	A	FAM111A	c.228del	NM_001312909.2	NP_001299838.1:p.(Thr77GlnfsTer6)	NC_000011.9:g.58919369del	(Likely) benign	1 lab	80ad936b9e
17:80788199 TBCD C>T	17	80788199	80788199	C	T	TBCD	c.1318+15389C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788199C>T	(Likely) benign	1 lab	80ae2b0522
19:38964011 RYR1 C>A	19	38964011	38964011	C	A	RYR1	c.3766-6C>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38964011C>A	(Likely) benign	1 lab	80ae7556ad
12:133150943 FBRSL1 G>A	12	133150943	133150943	G	A	FBRSL1	c.1629+9G>A	NM_001367871.1	NP_001354800.1:p.?	NC_000012.11:g.133150943G>A	(Likely) benign	1 lab	80af6b9a3e
17:80045600 FASN C>T	17	80045600	80045600	C	T	FASN	c.3004G>A	NM_004104.5	NP_004095.4:p.(Gly1002Ser)	NC_000017.10:g.80045600C>T	(Likely) benign	1 lab	80afd7ae31
17:7801837 CHD3 C>T	17	7801837	7801837	C	T	CHD3	c.2075C>T	NM_001005273.3	NP_001005273.1:p.(Pro692Leu)	NC_000017.10:g.7801837C>T	VUS	1 lab	80b16f01b6
16:1250723 CACNA1H C>T	16	1250723	1250723	C	T	CACNA1H	c.1127C>T	NM_021098.3	NP_066921.2:p.(Thr376Met)	NC_000016.9:g.1250723C>T	VUS	1 lab	80b17f9471
1:156533065 IQGAP3 C>T	1	156533065	156533065	C	T	IQGAP3	c.659G>A	NM_178229.5	NP_839943.3:p.(Arg220Gln)	NC_000001.10:g.156533065C>T	(Likely) benign	1 lab	80b3d5bce8
2:48026736 MSH6 T>C	2	48026736	48026736	T	C	MSH6	c.1614T>C	NM_000179.2	NP_000170.1:p.(Tyr538=)	NC_000002.11:g.48026736T>C	(Likely) benign	1 lab	259a9e3769
16:30981001 SETD1A G>A	16	30981001	30981001	G	A	SETD1A	c.3007G>A	NM_014712.3	NP_055527.1:p.(Val1003Met)	NC_000016.9:g.30981001G>A	(Likely) benign	1 lab	80b7851e03
19:48918221 GRIN2D C>CTCTA	19	48918221	48918225	C	CTCTA	GRIN2D	c.1514_1517dup	NM_000836.4	NP_000827.2:p.(Val508ProfsTer137)	NC_000019.9:g.48918222_48918225dup	VUS	1 lab	80b9dfe251
16:89712467 CHMP1A G>A	16	89712467	89712467	G	A	CHMP1A	c.*7C>T	NM_002768.5	NP_002759.2:p.?	NC_000016.9:g.89712467G>A	VUS	1 lab	80ba56d216
1:17270624 CROCC A>G	1	17270624	17270624	A	G	CROCC	c.1838A>G	NM_014675.5	NP_055490.4:p.(Gln613Arg)	NC_000001.10:g.17270624A>G	VUS	1 lab	80ba917376
7:98555628 TRRAP C>T	7	98555628	98555628	C	T	TRRAP	c.6256C>T	NM_001375524.1	NP_001362453.1:p.(Pro2086Ser)	NC_000007.13:g.98555628C>T	(Likely) benign	1 lab	80bb222e1b
13:26155952 ATP8A2 T>C	13	26155952	26155952	T	C	ATP8A2	c.2008-5T>C	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26155952T>C	(Likely) benign	1 lab	80bb876762
10:96033363 PLCE1 T>A	10	96033363	96033363	T	A	PLCE1	c.4551T>A	NM_016341.4	NP_057425.3:p.(Thr1517=)	NC_000010.10:g.96033363T>A	(Likely) benign	1 lab	80bdb00374
18:2926756 LPIN2 G>A	18	2926756	2926756	G	A	LPIN2	c.1758C>T	NM_014646.2	NP_055461.1:p.(Asp586=)	NC_000018.9:g.2926756G>A	(Likely) benign	1 lab	259d1d4fb7
17:56435269 RNF43 G>T	17	56435269	56435269	G	T	RNF43	c.1868C>A	NM_017763.6	NP_060233.3:p.(Ala623Asp)	NC_000017.10:g.56435269G>T	VUS	1 lab	80be47847f
1:98206012 DPYD G>A	1	98206012	98206012	G	A	DPYD	c.257C>T	NM_000110.4	NP_000101.2:p.(Pro86Leu)	NC_000001.10:g.98206012G>A	(Likely) pathogenic	1 lab	80be579725
10:26856229 APBB1IP CCGCCCG>C	10	26856229	26856248	CCGCCCG	C	APBB1IP	c.1827_1832del	NM_019043.4	NP_061916.3:p.(Ala611_Pro612del)	NC_000010.10:g.26856243_26856248del	(Likely) benign	1 lab	80be91290c
11:22297671 ANO5 G>A	11	22297671	22297671	G	A	ANO5	c.2446G>A	NM_213599.3	NP_998764.1:p.(Glu816Lys)	NC_000011.9:g.22297671G>A	VUS	1 lab	2416055014
X:100486731 DRP2 G>A	X	100486731	100486731	G	A	DRP2	c.95G>A	NM_001939.3	NP_001930.2:p.(Arg32Gln)	NC_000023.10:g.100486731G>A	(Likely) benign	1 lab	80bff4eaee
1:237586554 RYR2 A>G	1	237586554	237586554	A	G	RYR2	c.1005+6A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237586554A>G	(Likely) benign	1 lab	259ec59b57
22:51117492 SHANK3 G>A	22	51117492	51117492	G	A	SHANK3	c.871G>A	NM_001372044.2	NP_001358973.1:p.(Gly291Ser)	NC_000022.10:g.51117492G>A	(Likely) benign	1 lab	80c3002dea
18:10770181 PIEZO2 C>T	18	10770181	10770181	C	T	PIEZO2	c.2911G>A	NM_001378183.1	NP_001365112.1:p.(Val971Ile)	NC_000018.9:g.10770181C>T	VUS	1 lab	80c344df12
21:43412650 ZBTB21 G>A	21	43412650	43412650	G	A	ZBTB21	c.1555C>T	NM_001098402.2	NP_001091872.1:p.(Leu519Phe)	NC_000021.8:g.43412650G>A	VUS	1 lab	80c50d10b7
X:140993905 MAGEC1 C>G	X	140993905	140993905	C	G	MAGEC1	c.715C>G	NM_005462.5	NP_005453.2:p.(Pro239Ala)	NC_000023.10:g.140993905C>G	VUS	1 lab	80c51a623b
11:17115874 PIK3C2A G>A	11	17115874	17115874	G	A	PIK3C2A	c.4385C>T	NM_002645.4	NP_002636.2:p.(Thr1462Ile)	NC_000011.9:g.17115874G>A	VUS	1 lab	80c57ca9a1
18:31323128 ASXL3 A>T	18	31323128	31323128	A	T	ASXL3	c.3316A>T	NM_030632.3	NP_085135.1:p.(Thr1106Ser)	NC_000018.9:g.31323128A>T	(Likely) benign	1 lab	80c5b014a3
1:1950869 GABRD G>T	1	1950869	1950869	G	T	GABRD	c.7G>T	NM_000815.5	NP_000806.2:p.(Ala3Ser)	NC_000001.10:g.1950869G>T	(Likely) benign	1 lab	80c730b580
12:116452994 MED13L C>T	12	116452994	116452994	C	T	MED13L	c.1095G>A	NM_015335.5	NP_056150.1:p.(Ser365=)	NC_000012.11:g.116452994C>T	(Likely) benign	1 lab	80c762bbf1
5:42689031 GHR C>T	5	42689031	42689031	C	T	GHR	c.176C>T	NM_000163.5	NP_000154.1:p.(Pro59Leu)	NC_000005.9:g.42689031C>T	VUS	1 lab	80c7dcd15f
17:1944870 DPH1 C>T	17	1944870	1944870	C	T	DPH1	c.1182C>T	NM_001383.6	NP_001374.4:p.(Gly394=)	NC_000017.10:g.1944870C>T	VUS	1 lab	80c85cd583
17:40369161 STAT5B C>G	17	40369161	40369161	C	G	STAT5B	c.1380+17G>C	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40369161C>G	(Likely) benign	1 lab	80c91a57c4
1:46501250 MAST2 C>T	1	46501250	46501250	C	T	MAST2	c.4909C>T	NM_015112.3	NP_055927.2:p.(Leu1637Phe)	NC_000001.10:g.46501250C>T	(Likely) benign	1 lab	80c9c756c7
4:6279409 WFS1 G>T	4	6279409	6279409	G	T	WFS1	c.227G>T	NM_006005.3	NP_005996.2:p.(Gly76Val)	NC_000004.11:g.6279409G>T	(Likely) benign	1 lab	80ca9174ea
9:140610941 EHMT1 T>TG	9	140610941	140610946	T	TG	EHMT1	c.86-132dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610946dup	(Likely) benign	1 lab	80caa017f4
13:32915165 BRCA2 A>G	13	32915165	32915165	A	G	BRCA2	c.6673A>G	NM_000059.4	NP_000050.3:p.(Thr2225Ala)	NC_000013.10:g.32915165A>G	VUS	1 lab	80cb9313fd
5:126147462 LMNB1 T>C	5	126147462	126147462	T	C	LMNB1	c.814-3T>C	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126147462T>C	VUS	1 lab	80cbce503e
17:40065928 ACLY T>C	17	40065928	40065928	T	C	ACLY	c.371A>G	NM_001096.3	NP_001087.2:p.(Tyr124Cys)	NC_000017.10:g.40065928T>C	VUS	1 lab	80cda02f1c
11:103047110 DYNC2H1 G>C	11	103047110	103047110	G	C	DYNC2H1	c.5821G>C	NM_001377.3	NP_001368.2:p.(Ala1941Pro)	NC_000011.9:g.103047110G>C	VUS	1 lab	80ce54ca2e
3:123419188 MYLK G>C	3	123419188	123419188	G	C	MYLK	c.3127C>G	NM_053025.4	NP_444253.3:p.(Pro1043Ala)	NC_000003.11:g.123419188G>C	VUS	1 lab	80cfc3abf4
2:10188329 KLF11 A>G	2	10188329	10188329	A	G	KLF11	c.865A>G	NM_003597.5	NP_003588.1:p.(Met289Val)	NC_000002.11:g.10188329A>G	(Likely) benign	1 lab	80d3005e01
1:176734924 PAPPA2 G>C	1	176734924	176734924	G	C	PAPPA2	c.4274G>C	NM_020318.3	NP_064714.2:p.(Arg1425Thr)	NC_000001.10:g.176734924G>C	VUS	1 lab	80d5eeac3e
20:44523511 CTSA C>T	20	44523511	44523511	C	T	CTSA	c.919C>T	NM_000308.4	NP_000299.3:p.(Arg307Cys)	NC_000020.10:g.44523511C>T	VUS	1 lab	80d68ba835
18:46736065 DYM C>T	18	46736065	46736065	C	T	DYM	c.1481G>A	NM_001353214.3	NP_001340143.1:p.(Arg494Gln)	NC_000018.9:g.46736065C>T	VUS	1 lab	80d696d950
3:42739179 HHATL G>A	3	42739179	42739179	G	A	HHATL	c.694-8C>T	NM_020707.4	NP_065758.3:p.?	NC_000003.11:g.42739179G>A	VUS	1 lab	80d8901b22
6:33141314 COL11A2 C>T	6	33141314	33141314	C	T	COL11A2	c.2647G>A	NM_080680.3	NP_542411.2:p.(Gly883Ser)	NC_000006.11:g.33141314C>T	VUS	1 lab	80d8c0e12c
17:5462129 NLRP1 G>T	17	5462129	5462129	G	T	NLRP1	c.1887C>A	NM_033004.4	NP_127497.1:p.(Phe629Leu)	NC_000017.10:g.5462129G>T	(Likely) benign	1 lab	80d8fe7ace
19:55179243 LILRB4 AG>A	19	55179243	55179245	AG	A	LILRB4	c.1200+1del	NM_001278426.4	NP_001265355.2:p.?	NC_000019.9:g.55179245del	(Likely) benign	1 lab	80d9be3ebd
7:1785775 ELFN1 G>A	7	1785775	1785775	G	A	ELFN1	c.1543G>A	NM_001128636.4	NP_001122108.1:p.(Ala515Thr)	NC_000007.13:g.1785775G>A	VUS	1 lab	80dab5c982
15:89862315 POLG C>G	15	89862315	89862315	C	G	POLG	c.3120G>C	NM_002693.3	NP_002684.1:p.(Lys1040Asn)	NC_000015.9:g.89862315C>G	VUS	1 lab	80db0d19e6
3:8787266 CAV3 G>A	3	8787266	8787266	G	A	CAV3	c.169G>A	NM_033337.3	NP_203123.1:p.(Val57Met)	NC_000003.11:g.8787266G>A	(Likely) pathogenic	1 lab	80dd0c1719
16:4774775 ANKS3 T>G	16	4774775	4774775	T	G	ANKS3	c.549A>C	NM_133450.4	NP_597707.1:p.(Ile183=)	NC_000016.9:g.4774775T>G	(Likely) benign	1 lab	80de43cb77
17:80399056 HEXD C>T	17	80399056	80399056	C	T	HEXD	c.1077C>T	NM_001330542.2	NP_001317471.1:p.(Ser359=)	NC_000017.10:g.80399056C>T	VUS	1 lab	80e0a1a258
3:129284356 PLXND1 TG>T	3	129284356	129284358	TG	T	PLXND1	c.4347del	NM_015103.3	NP_055918.3:p.(Ile1450SerfsTer14)	NC_000003.11:g.129284358del	(Likely) pathogenic	1 lab	80e169dc57
15:76578769 ETFA G>A	15	76578769	76578769	G	A	ETFA	c.505C>T	NM_000126.4	NP_000117.1:p.(Arg169Cys)	NC_000015.9:g.76578769G>A	VUS	1 lab	80e1f53270
8:133192414 KCNQ3 G>T	8	133192414	133192414	G	T	KCNQ3	c.767C>A	NM_004519.4	NP_004510.1:p.(Ala256Asp)	NC_000008.10:g.133192414G>T	(Likely) pathogenic	1 lab	36c02025eb
3:195508447 MUC4 G>A	3	195508447	195508447	G	A	MUC4	c.10004C>T	NM_018406.7	NP_060876.5:p.(Ser3335Phe)	NC_000003.11:g.195508447G>A	(Likely) benign	1 lab	80e2f73caa
11:17428256 ABCC8 G>A	11	17428256	17428256	G	A	ABCC8	c.3242C>T	NM_000352.6	NP_000343.2:p.(Thr1081Met)	NC_000011.9:g.17428256G>A	(Likely) pathogenic	1 lab	80e364df1b
9:95142080 CENPP G>A	9	95142080	95142080	G	A	CENPP	c.503G>A	NM_001012267.3	NP_001012267.1:p.(Arg168Gln)	NC_000009.11:g.95142080G>A	VUS	1 lab	80e3973858
2:179648448 TTN G>C	2	179648448	179648448	G	C	TTN	c.2840C>G	NM_001267550.2	NP_001254479.2:p.(Ser947Trp)	NC_000002.11:g.179648448G>C	VUS	1 lab	80e432776d
20:44639599 MMP9 C>T	20	44639599	44639599	C	T	MMP9	c.559C>T	NM_004994.3	NP_004985.2:p.(Leu187Phe)	NC_000020.10:g.44639599C>T	(Likely) benign	1 lab	80e442a34f
2:219920562 IHH G>A	2	219920562	219920562	G	A	IHH	c.603C>T	NM_002181.4	NP_002172.2:p.(Gly201=)	NC_000002.11:g.219920562G>A	(Likely) benign	1 lab	80e629e658
2:179587618 TTN A>C	2	179587618	179587618	A	C	TTN	c.22008T>G	NM_001267550.2	NP_001254479.2:p.(Val7336=)	NC_000002.11:g.179587618A>C	(Likely) benign	1 lab	241c04cf61
3:172165404 GHSR C>G	3	172165404	172165404	C	G	GHSR	c.796+4G>C	NM_198407.2	NP_940799.1:p.?	NC_000003.11:g.172165404C>G	VUS	1 lab	80e8d68d8e
16:89598383 SPG7 T>G	16	89598383	89598383	T	G	SPG7	c.1059T>G	NM_003119.4	NP_003110.1:p.(Cys353Trp)	NC_000016.9:g.89598383T>G	(Likely) pathogenic	1 lab	2423c56c98
14:31071081 G2E3 G>A	14	31071081	31071081	G	A	G2E3	c.858G>A	NM_017769.5	NP_060239.2:p.(Arg286=)	NC_000014.8:g.31071081G>A	(Likely) benign	1 lab	80e93874b1
11:64953787 CAPN1 C>T	11	64953787	64953787	C	T	CAPN1	c.737C>T	NM_001198868.2	NP_001185797.1:p.(Ser246Phe)	NC_000011.9:g.64953787C>T	VUS	1 lab	2424df38a8
17:650644 GEMIN4 C>T	17	650644	650644	C	T	GEMIN4	c.639G>A	NM_015721.3	NP_056536.2:p.(Met213Ile)	NC_000017.10:g.650644C>T	VUS	1 lab	80ea69e938
8:38274835 FGFR1 C>G	8	38274835	38274835	C	G	FGFR1	c.1652G>C	NM_023110.3	NP_075598.2:p.(Cys551Ser)	NC_000008.10:g.38274835C>G	VUS	1 lab	80eb59aeae
2:120005739 STEAP3 G>A	2	120005739	120005739	G	A	STEAP3	c.1007G>A	NM_182915.3	NP_878919.2:p.(Arg336His)	NC_000002.11:g.120005739G>A	VUS	1 lab	80ec33512d
2:241725938 KIF1A G>A	2	241725938	241725938	G	A	KIF1A	c.430-8C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241725938G>A	(Likely) benign	1 lab	80f07785b5
12:57626627 SHMT2 G>C	12	57626627	57626627	G	C	SHMT2	c.857+1G>C	NM_005412.6	NP_005403.2:p.?	NC_000012.11:g.57626627G>C	VUS	1 lab	80f0e3e451
X:134715020 INTS6L T>C	X	134715020	134715020	T	C	INTS6L	c.2540T>C	NM_001351601.3	NP_001338530.1:p.(Leu847Pro)	NC_000023.10:g.134715020T>C	VUS	1 lab	80f302c40a
6:33391746 SYNGAP1 C>A	6	33391746	33391746	C	A	SYNGAP1	c.189+371C>A	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33391746C>A	(Likely) benign	1 lab	80f345fb46
16:3820579 CREBBP C>T	16	3820579	3820579	C	T	CREBBP	c.2872G>A	NM_004380.3	NP_004371.2:p.(Gly958Ser)	NC_000016.9:g.3820579C>T	VUS	1 lab	80f3d4459e
10:85984444 LRIT2 T>G	10	85984444	85984444	T	G	LRIT2	c.537A>C	NM_001017924.5	NP_001017924.1:p.(Lys179Asn)	NC_000010.10:g.85984444T>G	(Likely) benign	1 lab	80f58c4188
8:120079584 COLEC10 C>T	8	120079584	120079584	C	T	COLEC10	c.64C>T	NM_006438.5	NP_006429.2:p.(Gln22Ter)	NC_000008.10:g.120079584C>T	(Likely) pathogenic	1 lab	80f5a80e54
12:123095439 KNTC1 A>G	12	123095439	123095439	A	G	KNTC1	c.5614A>G	NM_014708.6	NP_055523.1:p.(Thr1872Ala)	NC_000012.11:g.123095439A>G	VUS	1 lab	80f64cae83
1:23665099 HNRNPR A>G	1	23665099	23665099	A	G	HNRNPR	c.160T>C	NM_005826.5	NP_005817.1:p.(Leu54=)	NC_000001.10:g.23665099A>G	(Likely) benign	1 lab	80f7603306
1:7724105 CAMTA1 G>T	1	7724105	7724105	G	T	CAMTA1	c.1498G>T	NM_015215.4	NP_056030.1:p.(Gly500Cys)	NC_000001.10:g.7724105G>T	(Likely) benign	1 lab	80f8fefae5
9:138657497 KCNT1 A>G	9	138657497	138657497	A	G	KCNT1	c.1228A>G	NM_020822.3	NP_065873.2:p.(Thr410Ala)	NC_000009.11:g.138657497A>G	VUS	1 lab	80fa085cba
10:105762779 SLK A>G	10	105762779	105762779	A	G	SLK	c.1843A>G	NM_014720.4	NP_055535.2:p.(Lys615Glu)	NC_000010.10:g.105762779A>G	(Likely) benign	1 lab	80fb2347d2
6:152470766 SYNE1 A>G	6	152470766	152470766	A	G	SYNE1	c.24488T>C	NM_182961.4	NP_892006.3:p.(Ile8163Thr)	NC_000006.11:g.152470766A>G	VUS	1 lab	80fd72777a
8:61718748 CHD7 C>T	8	61718748	61718748	C	T	CHD7	c.2443-2028C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61718748C>T	(Likely) benign	1 lab	80fda2161c
2:234878925 TRPM8 T>G	2	234878925	234878925	T	G	TRPM8	c.2210T>G	NM_024080.5	NP_076985.4:p.(Val737Gly)	NC_000002.11:g.234878925T>G	VUS	1 lab	80fe0df201
6:117244262 RFX6 A>G	6	117244262	117244262	A	G	RFX6	c.1438-8A>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117244262A>G	VUS	1 lab	8100126bc8
2:27535101 MPV17 G>A	2	27535101	27535101	G	A	MPV17	c.389C>T	NM_002437.5	NP_002428.1:p.(Ala130Val)	NC_000002.11:g.27535101G>A	VUS	1 lab	8100e2805c
15:77308463 PSTPIP1 A>G	15	77308463	77308463	A	G	PSTPIP1	c.37-2026A>G	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77308463A>G	(Likely) benign	1 lab	25a41ec939
X:83128882 CYLC1 A>G	X	83128882	83128882	A	G	CYLC1	c.1166A>G	NM_021118.3	NP_066941.1:p.(Lys389Arg)	NC_000023.10:g.83128882A>G	VUS	1 lab	810481ff5e
X:53247094 KDM5C G>A	X	53247094	53247094	G	A	KDM5C	c.406C>T	NM_004187.5	NP_004178.2:p.(Arg136Trp)	NC_000023.10:g.53247094G>A	VUS	1 lab	8106cac340
1:205131250 DSTYK C>T	1	205131250	205131250	C	T	DSTYK	c.1732G>A	NM_015375.3	NP_056190.1:p.(Ala578Thr)	NC_000001.10:g.205131250C>T	VUS	1 lab	8106d6fb04
8:144998764 PLEC G>A	8	144998764	144998764	G	A	PLEC	c.5333C>T	NM_201384.3	NP_958786.1:p.(Ser1778Leu)	NC_000008.10:g.144998764G>A	VUS	1 lab	8107655806
12:121435290 HNF1A G>A	12	121435290	121435290	G	A	HNF1A	c.1323G>A	NM_000545.8	NP_000536.6:p.(Thr441=)	NC_000012.11:g.121435290G>A	(Likely) benign	1 lab	81082fdd35
2:73829405 ALMS1 A>C	2	73829405	73829405	A	C	ALMS1	c.12208A>C	NM_001378454.1	NP_001365383.1:p.(Ser4070Arg)	NC_000002.11:g.73829405A>C	VUS	1 lab	8108557bc4
1:205132844 DSTYK T>C	1	205132844	205132844	T	C	DSTYK	c.1557+7A>G	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205132844T>C	(Likely) benign	1 lab	81097c6980
17:10534960 MYH3 C>A	17	10534960	10534960	C	A	MYH3	c.5254G>T	NM_002470.4	NP_002461.2:p.(Ala1752Ser)	NC_000017.10:g.10534960C>A	(Likely) benign	1 lab	8109f2a8e4
3:12200209 TIMP4 C>A	3	12200209	12200209	C	A	TIMP4	c.132G>T	NM_003256.4	NP_003247.1:p.(Ser44=)	NC_000003.11:g.12200209C>A	VUS	1 lab	810b3f24d7
14:93652987 LYSET A>G	14	93652987	93652987	A	G	LYSET	c.463A>G	NM_001098621.4	NP_001092091.2:p.(Ile155Val)	NC_000014.8:g.93652987A>G	VUS	1 lab	810c989c37
3:184075486 CLCN2 T>C	3	184075486	184075486	T	C	CLCN2	c.694A>G	NM_004366.6	NP_004357.3:p.(Asn232Asp)	NC_000003.11:g.184075486T>C	VUS	1 lab	810d799c47
17:77807808 CBX4 C>A	17	77807808	77807808	C	A	CBX4	c.1633G>T	NM_003655.3	NP_003646.2:p.(Val545Phe)	NC_000017.10:g.77807808C>A	VUS	1 lab	810d9d66bf
7:31013662 GHRHR G>A	7	31013662	31013662	G	A	GHRHR	c.660G>A	NM_000823.4	NP_000814.2:p.(Leu220=)	NC_000007.13:g.31013662G>A	(Likely) benign	1 lab	810e228ec8
1:182554908 RNASEL G>GC	1	182554908	182554914	G	GC	RNASEL	c.1033dup	NM_021133.4	NP_066956.1:p.(Ala345GlyfsTer22)	NC_000001.10:g.182554914dup	VUS	1 lab	810e7b99a7
2:225630539 DOCK10 C>T	2	225630539	225630539	C	T	DOCK10	c.6460G>A	NM_014689.3	NP_055504.2:p.(Asp2154Asn)	NC_000002.11:g.225630539C>T	(Likely) benign	1 lab	810f6ef3f7
15:52668635 MYO5A T>G	15	52668635	52668635	T	G	MYO5A	c.2329A>C	NM_001382347.1	NP_001369276.1:p.(Ile777Leu)	NC_000015.9:g.52668635T>G	(Likely) benign	1 lab	810fe75bfe
4:190989621 MISSING G>A	4	190989621	190989621	G	A	MISSING				NC_000004.11:g.190989621G>A	(Likely) benign	1 lab	810fee81cf
19:38976753 RYR1 C>T	19	38976753	38976753	C	T	RYR1	c.5458C>T	NM_000540.3	NP_000531.2:p.(Arg1820Cys)	NC_000019.9:g.38976753C>T	(Likely) benign	1 lab	81105a3362
18:50705349 DCC C>T	18	50705349	50705349	C	T	DCC	c.1436C>T	NM_005215.4	NP_005206.2:p.(Thr479Ile)	NC_000018.9:g.50705349C>T	(Likely) benign	1 lab	81121bfcc5
16:72828389 ZFHX3 C>T	16	72828389	72828389	C	T	ZFHX3	c.8192G>A	NM_006885.4	NP_008816.3:p.(Arg2731Gln)	NC_000016.9:g.72828389C>T	VUS	1 lab	8112f00582
17:78343389 RNF213 C>T	17	78343389	78343389	C	T	RNF213	c.12243C>T	NM_001256071.3	NP_001243000.2:p.(Asn4081=)	NC_000017.10:g.78343389C>T	(Likely) benign	1 lab	81134cdb8e
1:214794119 CENPF C>A	1	214794119	214794119	C	A	CENPF	c.695C>A	NM_016343.4	NP_057427.3:p.(Ser232Tyr)	NC_000001.10:g.214794119C>A	VUS	1 lab	8113ae1d5c
18:77211744 NFATC1 G>A	18	77211744	77211744	G	A	NFATC1	c.1831G>A	NM_001278669.2	NP_001265598.1:p.(Gly611Arg)	NC_000018.9:g.77211744G>A	VUS	1 lab	8113eabdd4
17:48154216 ITGA3 C>T	17	48154216	48154216	C	T	ITGA3	c.1923-122C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48154216C>T	(Likely) benign	1 lab	25a4fb04c7
6:157405953 ARID1B C>T	6	157405953	157405953	C	T	ARID1B	c.2405C>T	NM_001374828.1	NP_001361757.1:p.(Pro802Leu)	NC_000006.11:g.157405953C>T	(Likely) benign	1 lab	8114aa2bd4
9:140729317 EHMT1 T>TGGCCCAGCGTCAGGCCAGCGC	9	140729317	140729345	T	TGGCCCAGCGTCAGGCCAGCGC	EHMT1	c.3817_3837dup	NM_024757.5	NP_079033.4:p.(Arg1273_Gln1279dup)	NC_000009.11:g.140729325_140729345dup	VUS	1 lab	8116838a9d
X:55033621 APEX2 A>T	X	55033621	55033621	A	T	APEX2	c.1310A>T	NM_014481.4	NP_055296.2:p.(Lys437Met)	NC_000023.10:g.55033621A>T	(Likely) benign	1 lab	811698596e
14:105412400 AHNAK2 A>G	14	105412400	105412400	A	G	AHNAK2	c.9388T>C	NM_138420.4	NP_612429.2:p.(Ser3130Pro)	NC_000014.8:g.105412400A>G	(Likely) benign	1 lab	811840b02a
19:17945726 JAK3 C>T	19	17945726	17945726	C	T	JAK3	c.2134G>A	NM_000215.4	NP_000206.2:p.(Gly712Ser)	NC_000019.9:g.17945726C>T	(Likely) pathogenic	1 lab	24275f55ab
20:25426586 GINS1 C>T	20	25426586	25426586	C	T	GINS1	c.550C>T	NM_021067.5	NP_066545.3:p.(Gln184Ter)	NC_000020.10:g.25426586C>T	VUS	1 lab	8119328bb0
1:236205350 NID1 A>T	1	236205350	236205350	A	T	NID1	c.995T>A	NM_002508.3	NP_002499.2:p.(Leu332His)	NC_000001.10:g.236205350A>T	(Likely) benign	1 lab	811976ad25
2:33567989 LTBP1 A>G	2	33567989	33567989	A	G	LTBP1	c.3815A>G	NM_206943.4	NP_996826.3:p.(Tyr1272Cys)	NC_000002.11:g.33567989A>G	VUS	1 lab	8119887c2d
4:1801021 FGFR3 C>T	4	1801021	1801021	C	T	FGFR3	c.150C>T	NM_000142.5	NP_000133.1:p.(Val50=)	NC_000004.11:g.1801021C>T	(Likely) benign	1 lab	811a8433a6
X:130417246 IGSF1 C>T	X	130417246	130417246	C	T	IGSF1	c.668-8G>A	NM_001555.5	NP_001546.2:p.?	NC_000023.10:g.130417246C>T	(Likely) benign	1 lab	811b3a2568
12:56096666 ITGA7 C>A	12	56096666	56096666	C	A	ITGA7	c.404G>T	NM_002206.3	NP_002197.2:p.(Gly135Val)	NC_000012.11:g.56096666C>A	VUS	1 lab	811cc1ee50
X:37431689 LANCL3 C>T	X	37431689	37431689	C	T	LANCL3	c.566C>T	NM_001170331.2	NP_001163802.1:p.(Ala189Val)	NC_000023.10:g.37431689C>T	VUS	1 lab	811cdea582
22:26181397 MYO18B C>T	22	26181397	26181397	C	T	MYO18B	c.2315C>T	NM_032608.7	NP_115997.5:p.(Thr772Met)	NC_000022.10:g.26181397C>T	(Likely) benign	1 lab	812156eb76
16:2149644 PKD1 C>T	16	2149644	2149644	C	T	PKD1	c.10050+1G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2149644C>T	(Likely) pathogenic	1 lab	8125cd6ae0
17:76433955 DNAH17 A>G	17	76433955	76433955	A	G	DNAH17	c.11806-5T>C	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76433955A>G	(Likely) benign	1 lab	8127815d47
6:157505497 ARID1B G>T	6	157505497	157505497	G	T	ARID1B	c.3847G>T	NM_001374828.1	NP_001361757.1:p.(Glu1283Ter)	NC_000006.11:g.157505497G>T	(Likely) pathogenic	1 lab	812874832b
9:35807086 NPR2 C>G	9	35807086	35807086	C	G	NPR2	c.2586C>G	NM_003995.4	NP_003986.2:p.(Ile862Met)	NC_000009.11:g.35807086C>G	VUS	1 lab	8129cab250
22:21350984 LZTR1 G>A	22	21350984	21350984	G	A	LZTR1	c.2220-1G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21350984G>A	VUS	1 lab	812a110202
1:201019626 CACNA1S CCA>C	1	201019626	201019630	CCA	C	CACNA1S	c.4130_4131del	NM_000069.3	NP_000060.2:p.(Val1377GlyfsTer8)	NC_000001.10:g.201019629_201019630del	VUS	1 lab	812a577f73
12:49446767 KMT2D C>T	12	49446767	49446767	C	T	KMT2D	c.1043G>A	NM_003482.4	NP_003473.3:p.(Arg348His)	NC_000012.11:g.49446767C>T	(Likely) benign	1 lab	812bfdf32c
19:46269298 SIX5 T>C	19	46269298	46269298	T	C	SIX5	c.1681A>G	NM_175875.5	NP_787071.3:p.(Ile561Val)	NC_000019.9:g.46269298T>C	(Likely) benign	1 lab	812c3418fb
3:136077991 STAG1 TGTGAA>T	3	136077991	136077999	TGTGAA	T	STAG1	c.2930_2934del	NM_005862.3	NP_005853.2:p.(Leu977GlnfsTer9)	NC_000003.11:g.136077995_136077999del	(Likely) pathogenic	1 lab	812f295505
19:50920536 POLD1 A>G	19	50920536	50920536	A	G	POLD1	c.3218+10A>G	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50920536A>G	(Likely) benign	1 lab	812fcac1f3
9:109691405 ZNF462 G>A	9	109691405	109691405	G	A	ZNF462	c.5212G>A	NM_021224.6	NP_067047.4:p.(Asp1738Asn)	NC_000009.11:g.109691405G>A	VUS	1 lab	8131ccf546
2:86308747 POLR1A A>C	2	86308747	86308747	A	C	POLR1A	c.900T>G	NM_015425.6	NP_056240.2:p.(Asp300Glu)	NC_000002.11:g.86308747A>C	VUS	1 lab	813248fd58
7:69508553 AUTS2 T>C	7	69508553	69508553	T	C	AUTS2	c.523-74565T>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69508553T>C	(Likely) benign	1 lab	81341752ec
5:112177675 APC T>A	5	112177675	112177675	T	A	APC	c.6384T>A	NM_000038.6	NP_000029.2:p.(Ala2128=)	NC_000005.9:g.112177675T>A	(Likely) benign	1 lab	81349f64c1
16:57599012 ADGRG5 A>G	16	57599012	57599012	A	G	ADGRG5	c.496A>G	NM_001304376.3	NP_001291305.1:p.(Asn166Asp)	NC_000016.9:g.57599012A>G	VUS	1 lab	8134acac19
2:74460621 SLC4A5 T>C	2	74460621	74460621	T	C	SLC4A5	c.2503A>G	NM_133478.3	NP_597812.1:p.(Ser835Gly)	NC_000002.11:g.74460621T>C	(Likely) benign	1 lab	8135664363
12:7045879 ATN1 CCAGCAACAGCAACAG>C	12	7045879	7045899	CCAGCAACAGCAACAG	C	ATN1	c.1455_1469del	NM_001940.4	NP_001931.2:p.(Gln498_Gln502del)	NC_000012.11:g.7045885_7045899del	(Likely) benign	1 lab	813630df33
3:148459199 AGTR1 G>A	3	148459199	148459199	G	A	AGTR1	c.377G>A	NM_000685.5	NP_000676.1:p.(Arg126Gln)	NC_000003.11:g.148459199G>A	VUS	1 lab	81376d5c3f
16:89661770 CPNE7 C>T	16	89661770	89661770	C	T	CPNE7	c.1303-5C>T	NM_153636.3	NP_705900.1:p.?	NC_000016.9:g.89661770C>T	(Likely) benign	1 lab	813781c916
4:15599051 CC2D2A C>T	4	15599051	15599051	C	T	CC2D2A	c.4459C>T	NM_001378615.1	NP_001365544.1:p.(Arg1487Cys)	NC_000004.11:g.15599051C>T	VUS	1 lab	8137933a89
10:135192857 PAOX G>A	10	135192857	135192857	G	A	PAOX	c.37G>A	NM_152911.4	NP_690875.1:p.(Gly13Arg)	NC_000010.10:g.135192857G>A	(Likely) benign	1 lab	8139ef4275
15:93563352 CHD2 C>T	15	93563352	93563352	C	T	CHD2	c.5017C>T	NM_001271.4	NP_001262.3:p.(His1673Tyr)	NC_000015.9:g.93563352C>T	VUS	1 lab	813db9f3ca
2:15496424 NBAS C>T	2	15496424	15496424	C	T	NBAS	c.3931+3G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15496424C>T	(Likely) benign	1 lab	813fa15da4
1:154841549 KCNN3 TAAC>T	1	154841549	154841557	TAAC	T	KCNN3	c.889_891del	NM_002249.6	NP_002240.3:p.(Val297del)	NC_000001.10:g.154841555_154841557del	VUS	1 lab	813fe45177
11:119144603 CBL C>T	11	119144603	119144603	C	T	CBL	c.616C>T	NM_005188.4	NP_005179.2:p.(Arg206Ter)	NC_000011.9:g.119144603C>T	VUS	1 lab	242da0e095
16:19079000 COQ7 G>GGGC	16	19079000	19079012	G	GGGC	COQ7	c.24_26dup	NM_016138.5	NP_057222.2:p.(Ala9dup)	NC_000016.9:g.19079010_19079012dup	(Likely) benign	1 lab	25a563a866
4:68374672 CENPC G>C	4	68374672	68374672	G	C	CENPC	c.1764C>G	NM_001812.4	NP_001803.2:p.(Asn588Lys)	NC_000004.11:g.68374672G>C	(Likely) benign	1 lab	8141dbf2f1
2:1812849 MYT1L G>A	2	1812849	1812849	G	A	MYT1L	c.3171C>T	NM_001303052.2	NP_001289981.1:p.(Asn1057=)	NC_000002.11:g.1812849G>A	(Likely) benign	1 lab	8145773c1b
1:223177522 DISP1 A>G	1	223177522	223177522	A	G	DISP1	c.2783A>G	NM_001377229.1	NP_001364158.1:p.(Gln928Arg)	NC_000001.10:g.223177522A>G	VUS	1 lab	8146a91c59
21:47545930 COL6A2 G>A	21	47545930	47545930	G	A	COL6A2	c.2201G>A	NM_001849.4	NP_001840.3:p.(Arg734His)	NC_000021.8:g.47545930G>A	VUS	1 lab	81473822a0
7:27224505 HOXA11 C>A	7	27224505	27224505	C	A	HOXA11	c.259G>T	NM_005523.6	NP_005514.1:p.(Glu87Ter)	NC_000007.13:g.27224505C>A	VUS	1 lab	8147914634
9:101908846 TGFBR1 A>G	9	101908846	101908846	A	G	TGFBR1	c.1210A>G	NM_004612.4	NP_004603.1:p.(Met404Val)	NC_000009.11:g.101908846A>G	(Likely) benign	1 lab	81479bd575
11:47362770 MYBPC3 C>T	11	47362770	47362770	C	T	MYBPC3	c.1816G>A	NM_000256.3	NP_000247.2:p.(Val606Ile)	NC_000011.9:g.47362770C>T	(Likely) pathogenic	1 lab	25a6b28b26
3:183896002 AP2M1 G>A	3	183896002	183896002	G	A	AP2M1	c.75-643G>A	NM_004068.4	NP_004059.2:p.?	NC_000003.11:g.183896002G>A	(Likely) benign	1 lab	8148c2a82f
10:103343423 POLL G>A	10	103343423	103343423	G	A	POLL	c.907C>T	NM_001174084.2	NP_001167555.1:p.(Pro303Ser)	NC_000010.10:g.103343423G>A	(Likely) benign	1 lab	8148d421f4
2:220362588 SPEGNB G>A	2	220362588	220362588	G	A	SPEGNB	c.578+5G>A	NM_001286811.2	NP_001273740.1:p.?	NC_000002.11:g.220362588G>A	(Likely) benign	1 lab	8159d0e2ac
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer41)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	814b0b7fc3
3:113503272 ATP6V1A G>T	3	113503272	113503272	G	T	ATP6V1A	c.413G>T	NM_001690.4	NP_001681.2:p.(Cys138Phe)	NC_000003.11:g.113503272G>T	VUS	1 lab	814b1ad48a
X:102334703 NXF3 TC>T	X	102334703	102334704	TC	T	NXF3	c.1147del	NM_022052.2	NP_071335.1:p.(Glu383ArgfsTer18)	NC_000023.10:g.102334704del	VUS	1 lab	814bbe85ea
8:145699670 FOXH1 T>C	8	145699670	145699670	T	C	FOXH1	c.1049A>G	NM_003923.3	NP_003914.1:p.(Asp350Gly)	NC_000008.10:g.145699670T>C	VUS	1 lab	814d063bde
X:153664221 ATP6AP1 T>C	X	153664221	153664221	T	C	ATP6AP1	c.1397T>C	NM_001183.6	NP_001174.2:p.(Leu466Ser)	NC_000023.10:g.153664221T>C	VUS	1 lab	814de1e7ec
15:42979721 STARD9 A>G	15	42979721	42979721	A	G	STARD9	c.5945A>G	NM_020759.3	NP_065810.2:p.(Glu1982Gly)	NC_000015.9:g.42979721A>G	(Likely) benign	1 lab	814f7ecfb9
12:49425854 KMT2D G>A	12	49425854	49425854	G	A	KMT2D	c.12634C>T	NM_003482.4	NP_003473.3:p.(Arg4212Trp)	NC_000012.11:g.49425854G>A	VUS	1 lab	814fc99ab0
1:29520646 MECR C>T	1	29520646	29520646	C	T	MECR	c.1010G>A	NM_016011.5	NP_057095.4:p.(Arg337Gln)	NC_000001.10:g.29520646C>T	VUS	1 lab	8150125d6e
8:105405152 DPYS C>T	8	105405152	105405152	C	T	DPYS	c.1303G>A	NM_001385.3	NP_001376.1:p.(Gly435Arg)	NC_000008.10:g.105405152C>T	(Likely) pathogenic	1 lab	8153e54418
5:132270576 AFF4 C>A	5	132270576	132270576	C	A	AFF4	c.181G>T	NM_014423.4	NP_055238.1:p.(Glu61Ter)	NC_000005.9:g.132270576C>A	VUS	1 lab	815520d165
3:172165850 GHSR G>C	3	172165850	172165850	G	C	GHSR	c.354C>G	NM_198407.2	NP_940799.1:p.(Leu118=)	NC_000003.11:g.172165850G>C	(Likely) benign	1 lab	8155fdeeb3
X:142795496 SPANXN2 G>A	X	142795496	142795496	G	A	SPANXN2	c.182C>T	NM_001009615.3	NP_001009615.1:p.(Thr61Met)	NC_000023.10:g.142795496G>A	(Likely) benign	1 lab	815ab091e0
1:230845887 AGT C>A	1	230845887	230845887	C	A	AGT	c.683G>T	NM_001384479.1	NP_001371408.1:p.(Arg228Leu)	NC_000001.10:g.230845887C>A	VUS	1 lab	815b6a31c8
X:19398315 MAP3K15 C>T	X	19398315	19398315	C	T	MAP3K15	c.2512G>A	NM_001001671.4	NP_001001671.3:p.(Gly838Ser)	NC_000023.10:g.19398315C>T	(Likely) benign	1 lab	815b9dd469
7:21779241 DNAH11 G>A	7	21779241	21779241	G	A	DNAH11	c.7864G>A	NM_001277115.2	NP_001264044.1:p.(Ala2622Thr)	NC_000007.13:g.21779241G>A	(Likely) benign	1 lab	815b9f7f35
2:179613937 TTN TTTC>T	2	179613937	179613942	TTTC	T	TTN	c.11311+3911_11311+3913del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613940_179613942del	VUS	1 lab	815dd31657
14:92439151 TRIP11 G>T	14	92439151	92439151	G	T	TRIP11	c.5629C>A	NM_004239.4	NP_004230.2:p.(Pro1877Thr)	NC_000014.8:g.92439151G>T	(Likely) benign	1 lab	815f299f84
1:27023007 ARID1A AGGCGGCGGC>A	1	27023007	27023022	AGGCGGCGGC	A	ARID1A	c.120_128del	NM_006015.6	NP_006006.3:p.(Ala43_Ala45del)	NC_000001.10:g.27023014_27023022del	VUS	1 lab	8160019b48
2:131414380 POTEJ G>A	2	131414380	131414380	G	A	POTEJ	c.2047G>A	NM_001277083.2	NP_001264012.1:p.(Gly683Ser)	NC_000002.11:g.131414380G>A	(Likely) benign	1 lab	81603f59c8
1:113666574 LRIG2 C>T	1	113666574	113666574	C	T	LRIG2	c.3049C>T	NM_014813.3	NP_055628.1:p.(His1017Tyr)	NC_000001.10:g.113666574C>T	(Likely) benign	1 lab	81617c9496
4:122774110 BBS7 C>T	4	122774110	122774110	C	T	BBS7	c.849+1G>A	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122774110C>T	(Likely) pathogenic	1 lab	8163aa1f67
18:28926060 DSG1 G>A	18	28926060	28926060	G	A	DSG1	c.1999G>A	NM_001942.4	NP_001933.2:p.(Glu667Lys)	NC_000018.9:g.28926060G>A	(Likely) benign	1 lab	8164229526
2:228163502 COL4A3 G>A	2	228163502	228163502	G	A	COL4A3	c.3856G>A	NM_000091.5	NP_000082.2:p.(Gly1286Arg)	NC_000002.11:g.228163502G>A	VUS	1 lab	81642f3bcc
X:65242115 VSIG4 C>T	X	65242115	65242115	C	T	VSIG4	c.1190G>A	NM_007268.3	NP_009199.1:p.(Ser397Asn)	NC_000023.10:g.65242115C>T	(Likely) benign	1 lab	8164efc00a
5:138716311 SLC23A1 G>A	5	138716311	138716311	G	A	SLC23A1	c.408C>T	NM_005847.5	NP_005838.3:p.(Tyr136=)	NC_000005.9:g.138716311G>A	(Likely) benign	1 lab	816529b443
12:114804165 TBX5 C>T	12	114804165	114804165	C	T	TBX5	c.787G>A	NM_181486.4	NP_852259.1:p.(Val263Met)	NC_000012.11:g.114804165C>T	(Likely) benign	1 lab	81662d8085
X:23412031 PTCHD1 TAC>T	X	23412031	23412034	TAC	T	PTCHD1	c.2398_2399del	NM_173495.3	NP_775766.2:p.(Gln800GlufsTer53)	NC_000023.10:g.23412033_23412034del	VUS	1 lab	816649fa8a
1:1460622 ATAD3A T>G	1	1460622	1460622	T	G	ATAD3A	c.1217T>G	NM_001170535.3	NP_001164006.1:p.(Leu406Arg)	NC_000001.10:g.1460622T>G	(Likely) pathogenic	1 lab	816786319b
X:151935259 MAGEA6 G>A	X	151935259	151935259	G	A	MAGEA6	c.908=	NM_005363.5	NP_005354.1:p.(Leu303=)	NC_000023.10:g.151935259G>A	VUS	1 lab	816792fe0e
2:233410388 CHRNG C>T	2	233410388	233410388	C	T	CHRNG	c.1516C>T	NM_005199.5	NP_005190.4:p.(Pro506Ser)	NC_000002.11:g.233410388C>T	(Likely) benign	1 lab	8168320c33
9:129453191 LMX1B G>A	9	129453191	129453191	G	A	LMX1B	c.403G>A	NM_001174147.2	NP_001167618.1:p.(Val135Met)	NC_000009.11:g.129453191G>A	VUS	1 lab	816891ea5f
3:71015083 FOXP1 T>C	3	71015083	71015083	T	C	FOXP1	c.1847A>G	NM_001349338.3	NP_001336267.1:p.(Asn616Ser)	NC_000003.11:g.71015083T>C	VUS	1 lab	816cf7ef4f
4:6302528 WFS1 C>T	4	6302528	6302528	C	T	WFS1	c.1006C>T	NM_006005.3	NP_005996.2:p.(Leu336Phe)	NC_000004.11:g.6302528C>T	(Likely) benign	1 lab	816d4a93dc
7:94176461 CASD1 T>C	7	94176461	94176461	T	C	CASD1	c.1687T>C	NM_022900.5	NP_075051.4:p.(Phe563Leu)	NC_000007.13:g.94176461T>C	VUS	1 lab	816eb5ea0c
22:50964725 TYMP T>C	22	50964725	50964725	T	C	TYMP	c.1109A>G	NM_001953.5	NP_001944.1:p.(Gln370Arg)	NC_000022.10:g.50964725T>C	VUS	1 lab	816f0e9cc1
11:3038469 CARS1 C>T	11	3038469	3038469	C	T	CARS1	c.1784G>A	NM_001014437.3	NP_001014437.1:p.(Arg595His)	NC_000011.9:g.3038469C>T	VUS	1 lab	816f7104a7
11:119535677 NECTIN1 C>CCCTCCTCCT	11	119535677	119535702	C	CCCTCCTCCT	NECTIN1	c.1325_1333dup	NM_002855.5	NP_002846.3:p.(Glu442_Glu444dup)	NC_000011.9:g.119535694_119535702dup	VUS	1 lab	8171a77183
18:25563027 CDH2 C>A	18	25563027	25563027	C	A	CDH2	c.2230G>T	NM_001792.5	NP_001783.2:p.(Val744Leu)	NC_000018.9:g.25563027C>A	VUS	1 lab	2440b7cc4a
2:37296028 HEATR5B G>A	2	37296028	37296028	G	A	HEATR5B	c.973C>T	NM_019024.3	NP_061897.1:p.(Arg325Cys)	NC_000002.11:g.37296028G>A	VUS	1 lab	81739926c0
2:10581954 ODC1 G>A	2	10581954	10581954	G	A	ODC1	c.1015C>T	NM_002539.3	NP_002530.1:p.(Leu339Phe)	NC_000002.11:g.10581954G>A	VUS	1 lab	24441684d8
14:105246452 AKT1 C>G	14	105246452	105246452	C	G	AKT1	c.148G>C	NM_001382430.1	NP_001369359.1:p.(Ala50Pro)	NC_000014.8:g.105246452C>G	(Likely) benign	1 lab	8179e5a093
1:2161150 SKI C>G	1	2161150	2161150	C	G	SKI	c.945C>G	NM_003036.4	NP_003027.1:p.(Asn315Lys)	NC_000001.10:g.2161150C>G	VUS	1 lab	817c0a7a9e
8:9623198 TNKS A>G	8	9623198	9623198	A	G	TNKS	c.3448-4A>G	NM_003747.3	NP_003738.2:p.?	NC_000008.10:g.9623198A>G	(Likely) benign	1 lab	817c8953b5
X:18192263 BEND2 A>G	X	18192263	18192263	A	G	BEND2	c.1868T>C	NM_153346.5	NP_699177.2:p.(Met623Thr)	NC_000023.10:g.18192263A>G	(Likely) benign	1 lab	817cf17973
22:32044166 PISD C>T	22	32044166	32044166	C	T	PISD	c.242G>A	NM_001326411.2	NP_001313340.1:p.(Arg81Gln)	NC_000022.10:g.32044166C>T	(Likely) benign	1 lab	817ec60b48
12:48376704 COL2A1 C>T	12	48376704	48376704	C	T	COL2A1	c.2120G>A	NM_001844.5	NP_001835.3:p.(Arg707His)	NC_000012.11:g.48376704C>T	VUS	1 lab	817fb1d20d
20:22563615 FOXA2 C>T	20	22563615	22563615	C	T	FOXA2	c.265G>A	NM_021784.5	NP_068556.2:p.(Gly89Ser)	NC_000020.10:g.22563615C>T	(Likely) benign	1 lab	81811dbe07
7:21789864 DNAH11 A>G	7	21789864	21789864	A	G	DNAH11	c.8822A>G	NM_001277115.2	NP_001264044.1:p.(Asp2941Gly)	NC_000007.13:g.21789864A>G	(Likely) benign	1 lab	8182f9fa6b
5:140792965 PCDHGB4 A>G	5	140792965	140792965	A	G	PCDHGB4	c.2397+23117A>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140792965A>G	VUS	1 lab	818334cfd0
2:179428279 TTN A>G	2	179428279	179428279	A	G	TTN	c.82580T>C	NM_001267550.2	NP_001254479.2:p.(Leu27527Pro)	NC_000002.11:g.179428279A>G	VUS	1 lab	81834f5994
6:73902391 KCNQ5 C>T	6	73902391	73902391	C	T	KCNQ5	c.1813C>T	NM_019842.4	NP_062816.2:p.(Arg605Trp)	NC_000006.11:g.73902391C>T	VUS	1 lab	81836e1ea5
4:5961304 C4orf50 G>A	4	5961304	5961304	G	A	C4orf50	c.4325C>T	NM_001364689.3	NP_001351618.1:p.(Ala1442Val)	NC_000004.11:g.5961304G>A	(Likely) benign	1 lab	8185125592
22:51121781 SHANK3 G>A	22	51121781	51121781	G	A	SHANK3	c.1124G>A	NM_001372044.2	NP_001358973.1:p.(Arg375His)	NC_000022.10:g.51121781G>A	VUS	1 lab	8186471bd7
1:98165108 DPYD G>A	1	98165108	98165108	G	A	DPYD	c.484-5C>T	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.98165108G>A	(Likely) benign	1 lab	81868bdc1c
5:176720825 NSD1 G>T	5	176720825	176720825	G	T	NSD1	c.6464-8G>T	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176720825G>T	VUS	1 lab	8187023429
1:152084459 TCHH G>C	1	152084459	152084459	G	C	TCHH	c.1234C>G	NM_007113.4	NP_009044.2:p.(Gln412Glu)	NC_000001.10:g.152084459G>C	(Likely) benign	1 lab	81878ea73b
9:35807111 NPR2 A>C	9	35807111	35807111	A	C	NPR2	c.2611A>C	NM_003995.4	NP_003986.2:p.(Thr871Pro)	NC_000009.11:g.35807111A>C	VUS	1 lab	8189b42d73
X:19371208 PDHA1 G>A	X	19371208	19371208	G	A	PDHA1	c.427G>A	NM_000284.4	NP_000275.1:p.(Gly143Arg)	NC_000023.10:g.19371208G>A	(Likely) benign	1 lab	818a69049c
2:179615054 TTN C>A	2	179615054	179615054	C	A	TTN	c.12073G>T	NM_133379.5	NP_596870.2:p.(Val4025Leu)	NC_000002.11:g.179615054C>A	VUS	1 lab	24473fceb3
19:49469079 FTL T>G	19	49469079	49469079	T	G	FTL	c.155T>G	NM_000146.4	NP_000137.2:p.(Phe52Cys)	NC_000019.9:g.49469079T>G	VUS	1 lab	818be4099e
10:123246943 FGFR2 A>C	10	123246943	123246943	A	C	FGFR2	c.1987-5T>G	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123246943A>C	(Likely) benign	1 lab	818c627f53
14:54417120 BMP4 C>G	14	54417120	54417120	C	G	BMP4	c.857G>C	NM_001202.6	NP_001193.2:p.(Arg286Pro)	NC_000014.8:g.54417120C>G	VUS	1 lab	818c9f33e3
X:118230621 KIAA1210 A>G	X	118230621	118230621	A	G	KIAA1210	c.682T>C	NM_001394962.1	NP_001381891.1:p.(Ser228Pro)	NC_000023.10:g.118230621A>G	(Likely) benign	1 lab	81911b0acd
2:219920491 IHH G>A	2	219920491	219920491	G	A	IHH	c.674C>T	NM_002181.4	NP_002172.2:p.(Pro225Leu)	NC_000002.11:g.219920491G>A	VUS	1 lab	8192f5f0c3
8:27327385 CHRNA2 A>G	8	27327385	27327385	A	G	CHRNA2	c.187T>C	NM_000742.4	NP_000733.2:p.(Phe63Leu)	NC_000008.10:g.27327385A>G	(Likely) benign	1 lab	8196474563
20:62293914 RTEL1 G>T	20	62293914	62293914	G	T	RTEL1	c.411G>T	NM_001283009.2	NP_001269938.1:p.(Val137=)	NC_000020.10:g.62293914G>T	(Likely) benign	1 lab	25ac4a0ee9
9:138594177 KCNT1 C>T	9	138594177	138594177	C	T	KCNT1	c.73C>T	NM_020822.3	NP_065873.2:p.(Arg25Trp)	NC_000009.11:g.138594177C>T	VUS	1 lab	8197ce84b8
11:100168418 CNTN5 T>G	11	100168418	100168418	T	G	CNTN5	c.2376T>G	NM_014361.4	NP_055176.1:p.(Ile792Met)	NC_000011.9:g.100168418T>G	(Likely) benign	1 lab	819961a4fa
3:49169758 LAMB2 A>G	3	49169758	49169758	A	G	LAMB2	c.330T>C	NM_002292.4	NP_002283.3:p.(Asn110=)	NC_000003.11:g.49169758A>G	(Likely) benign	1 lab	819a909d02
7:45956969 IGFBP3 T>G	7	45956969	45956969	T	G	IGFBP3	c.473A>C	NM_000598.5	NP_000589.2:p.(His158Pro)	NC_000007.13:g.45956969T>G	(Likely) benign	1 lab	819ab37f0a
14:64066326 WDR89 C>T	14	64066326	64066326	C	T	WDR89	c.335G>A	NM_080666.4	NP_542397.1:p.(Gly112Asp)	NC_000014.8:g.64066326C>T	VUS	1 lab	819ac89e9f
3:50334551 NAA80 T>C	3	50334551	50334551	T	C	NAA80	c.344A>G	NM_001200016.2	NP_001186945.1:p.(Glu115Gly)	NC_000003.11:g.50334551T>C	(Likely) benign	1 lab	819b0d4597
9:85926890 FRMD3 C>A	9	85926890	85926890	C	A	FRMD3	c.685G>T	NM_174938.6	NP_777598.3:p.(Asp229Tyr)	NC_000009.11:g.85926890C>A	VUS	1 lab	819b114a26
10:106401316 SORCS3 A>T	10	106401316	106401316	A	T	SORCS3	c.231A>T	NM_014978.3	NP_055793.1:p.(Arg77Ser)	NC_000010.10:g.106401316A>T	VUS	1 lab	819b56653c
14:74764681 ABCD4 C>T	14	74764681	74764681	C	T	ABCD4	c.377G>A	NM_005050.4	NP_005041.1:p.(Gly126Asp)	NC_000014.8:g.74764681C>T	(Likely) benign	1 lab	819dde9ef9
10:101489383 COX15 G>A	10	101489383	101489383	G	A	COX15	c.199C>T	NM_078470.6	NP_510870.1:p.(Arg67Trp)	NC_000010.10:g.101489383G>A	VUS	1 lab	819f1c2b39
10:131636203 EBF3 G>A	10	131636203	131636203	G	A	EBF3	c.*4C>T	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131636203G>A	VUS	1 lab	81a0291047
11:47296292 MADD C>T	11	47296292	47296292	C	T	MADD	c.241C>T	NM_001376571.1	NP_001363500.1:p.(Leu81Phe)	NC_000011.9:g.47296292C>T	VUS	1 lab	81a0c6f6fb
10:16911671 CUBN C>T	10	16911671	16911671	C	T	CUBN	c.9418G>A	NM_001081.4	NP_001072.2:p.(Ala3140Thr)	NC_000010.10:g.16911671C>T	(Likely) benign	1 lab	81a1d02739
8:28017947 ELP3 C>T	8	28017947	28017947	C	T	ELP3	c.1459C>T	NM_018091.6	NP_060561.3:p.(Arg487Trp)	NC_000008.10:g.28017947C>T	VUS	1 lab	81a1dc4e67
19:40412224 FCGBP C>T	19	40412224	40412224	C	T	FCGBP	c.3404G>A	NM_003890.3	NP_003881.2:p.(Ser1135Asn)	NC_000019.9:g.40412224C>T	(Likely) benign	1 lab	81a1e8ad9f
10:125528119 CPXM2 C>T	10	125528119	125528119	C	T	CPXM2	c.1222G>A	NM_198148.3	NP_937791.2:p.(Val408Ile)	NC_000010.10:g.125528119C>T	VUS	1 lab	81a26bad56
10:97446247 TCTN3 C>A	10	97446247	97446247	C	A	TCTN3	c.888+5G>T	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97446247C>A	VUS	1 lab	81a4a30c6d
19:8468136 RAB11B G>T	19	8468136	8468136	G	T	RAB11B	c.512-161G>T	NM_004218.4	NP_004209.2:p.?	NC_000019.9:g.8468136G>T	(Likely) benign	1 lab	81a4a8534a
16:16315528 ABCC6 G>A	16	16315528	16315528	G	A	ABCC6	c.197C>T	NM_001171.6	NP_001162.5:p.(Ser66Phe)	NC_000016.9:g.16315528G>A	VUS	1 lab	81a78dadc2
2:152514521 NEB C>T	2	152514521	152514521	C	T	NEB	c.6159G>A	NM_001164508.2	NP_001157980.2:p.(Lys2053=)	NC_000002.11:g.152514521C>T	(Likely) benign	1 lab	81a7abb47d
1:21582549 ECE1 A>C	1	21582549	21582549	A	C	ECE1	c.911T>G	NM_001397.3	NP_001388.1:p.(Met304Arg)	NC_000001.10:g.21582549A>C	VUS	1 lab	81a7f71a0b
12:49412509 PRKAG1 C>T	12	49412509	49412509	C	T	PRKAG1	c.9+6G>A	NM_002733.5	NP_002724.1:p.?	NC_000012.11:g.49412509C>T	VUS	1 lab	81a836c4b9
16:72845616 ZFHX3 C>A	16	72845616	72845616	C	A	ZFHX3	c.3724G>T	NM_006885.4	NP_008816.3:p.(Ala1242Ser)	NC_000016.9:g.72845616C>A	VUS	1 lab	81a964b583
4:154553950 TMEM131L G>C	4	154553950	154553950	G	C	TMEM131L	c.4288G>C	NM_001131007.2	NP_001124479.1:p.(Val1430Leu)	NC_000004.11:g.154553950G>C	(Likely) benign	1 lab	81aa892d36
1:147092243 BCL9 A>G	1	147092243	147092243	A	G	BCL9	c.2282A>G	NM_004326.4	NP_004317.2:p.(Gln761Arg)	NC_000001.10:g.147092243A>G	VUS	1 lab	81aaa04f15
16:72048459 DHODH T>C	16	72048459	72048459	T	C	DHODH	c.322T>C	NM_001361.5	NP_001352.2:p.(Tyr108His)	NC_000016.9:g.72048459T>C	VUS	1 lab	81aaecb25f
15:89381907 ACAN G>A	15	89381907	89381907	G	A	ACAN	c.84G>A	NM_001369268.1	NP_001356197.1:p.(Ser28=)	NC_000015.9:g.89381907G>A	(Likely) benign	1 lab	81abecd465
17:29325820 RNF135 T>C	17	29325820	29325820	T	C	RNF135	c.910T>C	NM_032322.4	NP_115698.3:p.(Cys304Arg)	NC_000017.10:g.29325820T>C	VUS	1 lab	81ac0bbea7
17:37822006 TCAP A>G	17	37822006	37822006	A	G	TCAP	c.148A>G	NM_003673.4	NP_003664.1:p.(Thr50Ala)	NC_000017.10:g.37822006A>G	VUS	1 lab	81ac11933e
2:71766327 DYSF C>T	2	71766327	71766327	C	T	DYSF	c.1534C>T	NM_001130987.2	NP_001124459.1:p.(Leu512=)	NC_000002.11:g.71766327C>T	(Likely) benign	1 lab	81ac62abb5
11:64374678 NRXN2 T>A	11	64374678	64374678	T	A	NRXN2	c.5129A>T	NM_015080.4	NP_055895.1:p.(Tyr1710Phe)	NC_000011.9:g.64374678T>A	VUS	1 lab	81ad0c1cc2
1:184663405 EDEM3 G>A	1	184663405	184663405	G	A	EDEM3	c.2591C>T	NM_025191.4	NP_079467.3:p.(Thr864Ile)	NC_000001.10:g.184663405G>A	(Likely) benign	1 lab	81ad80c90b
7:107564838 LAMB1 T>C	7	107564838	107564838	T	C	LAMB1	c.5065-4A>G	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107564838T>C	(Likely) benign	1 lab	81addee6df
11:76869387 MYO7A T>C	11	76869387	76869387	T	C	MYO7A	c.914T>C	NM_000260.4	NP_000251.3:p.(Met305Thr)	NC_000011.9:g.76869387T>C	VUS	1 lab	81aebe3df0
20:62839280 MYT1 C>A	20	62839280	62839280	C	A	MYT1	c.731C>A	NM_004535.3	NP_004526.1:p.(Ala244Asp)	NC_000020.10:g.62839280C>A	(Likely) benign	1 lab	81af413be2
6:132859711 TAAR9 GAGA>G	6	132859711	132859714	GAGA	G	TAAR9	c.284_286del	NM_175057.4	NP_778227.3:p.(Glu95_Ser96delinsGly)	NC_000006.11:g.132859712_132859714del	VUS	1 lab	81b0807a5b
9:140330210 ENTPD8 G>A	9	140330210	140330210	G	A	ENTPD8	c.1122C>T	NM_001033113.2	NP_001028285.1:p.(Asn374=)	NC_000009.11:g.140330210G>A	(Likely) benign	1 lab	81b1fee62a
14:105408714 AHNAK2 C>G	14	105408714	105408714	C	G	AHNAK2	c.13074G>C	NM_138420.4	NP_612429.2:p.(Gln4358His)	NC_000014.8:g.105408714C>G	(Likely) benign	1 lab	81b25b3732
7:105190509 RINT1 G>T	7	105190509	105190509	G	T	RINT1	c.1004G>T	NM_021930.6	NP_068749.3:p.(Trp335Leu)	NC_000007.13:g.105190509G>T	VUS	1 lab	81b2d92bb9
8:144904087 PUF60 G>A	8	144904087	144904087	G	A	PUF60	c.112-4C>T	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144904087G>A	(Likely) benign	1 lab	81b3ace4bd
11:2186928 TH G>A	11	2186928	2186928	G	A	TH	c.1170C>T	NM_000360.4	NP_000351.2:p.(Ala390=)	NC_000011.9:g.2186928G>A	(Likely) benign	1 lab	81b55ef815
5:11018086 CTNND2 C>T	5	11018086	11018086	C	T	CTNND2	c.3084G>A	NM_001332.4	NP_001323.1:p.(Lys1028=)	NC_000005.9:g.11018086C>T	(Likely) benign	1 lab	81b590b466
3:172224298 TNFSF10 G>A	3	172224298	172224298	G	A	TNFSF10	c.830C>T	NM_003810.4	NP_003801.1:p.(Ala277Val)	NC_000003.11:g.172224298G>A	VUS	1 lab	81b8a7d9da
3:184090772 THPO G>A	3	184090772	184090772	G	A	THPO	c.591C>T	NM_000460.4	NP_000451.1:p.(Asn197=)	NC_000003.11:g.184090772G>A	(Likely) benign	1 lab	81ba814bf1
13:92345556 GPC5 T>C	13	92345556	92345556	T	C	GPC5	c.441T>C	NM_004466.6	NP_004457.1:p.(Asp147=)	NC_000013.10:g.92345556T>C	(Likely) benign	1 lab	81bd74924f
3:172165757 GHSR G>C	3	172165757	172165757	G	C	GHSR	c.447C>G	NM_198407.2	NP_940799.1:p.(Leu149=)	NC_000003.11:g.172165757G>C	(Likely) benign	1 lab	81bd7f064c
2:179425090 TTN C>T	2	179425090	179425090	C	T	TTN	c.85769G>A	NM_001267550.2	NP_001254479.2:p.(Arg28590Gln)	NC_000002.11:g.179425090C>T	VUS	1 lab	81c0826593
9:80046340 GNA14 C>T	9	80046340	80046340	C	T	GNA14	c.490G>A	NM_004297.4	NP_004288.1:p.(Ala164Thr)	NC_000009.11:g.80046340C>T	(Likely) benign	1 lab	81c1531c41
15:83790722 TM6SF1 A>G	15	83790722	83790722	A	G	TM6SF1	c.448A>G	NM_023003.5	NP_075379.2:p.(Ser150Gly)	NC_000015.9:g.83790722A>G	(Likely) benign	1 lab	81c2de0eba
22:40662939 TNRC6B A>G	22	40662939	40662939	A	G	TNRC6B	c.2705A>G	NM_001162501.2	NP_001155973.1:p.(Tyr902Cys)	NC_000022.10:g.40662939A>G	VUS	1 lab	81c5c0c32f
16:72991551 ZFHX3 T>C	16	72991551	72991551	T	C	ZFHX3	c.2494A>G	NM_006885.4	NP_008816.3:p.(Met832Val)	NC_000016.9:g.72991551T>C	VUS	1 lab	81c65a6871
14:51089890 ATL1 C>T	14	51089890	51089890	C	T	ATL1	c.1048-5C>T	NM_015915.5	NP_056999.2:p.?	NC_000014.8:g.51089890C>T	(Likely) benign	1 lab	2449a8af3c
22:29885404 NEFH CAA>C	22	29885404	29885407	CAA	C	NEFH	c.1777_1778del	NM_021076.4	NP_066554.2:p.(Lys593ValfsTer4)	NC_000022.10:g.29885406_29885407del	VUS	1 lab	81c695663c
11:31824241 PAX6 G>C	11	31824241	31824241	G	C	PAX6	c.141+11C>G	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31824241G>C	(Likely) benign	1 lab	81c79960e0
X:77150912 MAGT1 G>A	X	77150912	77150912	G	A	MAGT1	c.-5C>T	NM_001367916.1	NP_001354845.1:p.?	NC_000023.10:g.77150912G>A	(Likely) benign	1 lab	81ca9bb1a8
7:111462470 DOCK4 G>T	7	111462470	111462470	G	T	DOCK4	c.2878C>A	NM_001363540.2	NP_001350469.1:p.(Arg960Ser)	NC_000007.13:g.111462470G>T	(Likely) benign	1 lab	81cc43aa31
9:32467838 RIGI C>T	9	32467838	32467838	C	T	RIGI	c.2107G>A	NM_014314.4	NP_055129.2:p.(Gly703Ser)	NC_000009.11:g.32467838C>T	VUS	1 lab	8204495e03
X:134992197 SAGE1 G>A	X	134992197	134992197	G	A	SAGE1	c.1732G>A	NM_001381902.1	NP_001368831.1:p.(Val578Ile)	NC_000023.10:g.134992197G>A	(Likely) benign	1 lab	81cdd108c2
2:173344373 ITGA6 C>T	2	173344373	173344373	C	T	ITGA6	c.1393C>T	NM_000210.4	NP_000201.2:p.(Arg465Trp)	NC_000002.11:g.173344373C>T	VUS	1 lab	81cea768bc
X:24833119 POLA1 C>A	X	24833119	24833119	C	A	POLA1	c.3320C>A	NM_001330360.2	NP_001317289.1:p.(Ser1107Tyr)	NC_000023.10:g.24833119C>A	VUS	1 lab	81cf740590
3:58117252 FLNB C>T	3	58117252	58117252	C	T	FLNB	c.4390+617C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58117252C>T	(Likely) benign	1 lab	81cfe0d1d1
8:41798647 KAT6A C>G	8	41798647	41798647	C	G	KAT6A	c.2752G>C	NM_006766.5	NP_006757.2:p.(Glu918Gln)	NC_000008.10:g.41798647C>G	VUS	1 lab	81d18ad6cb
7:35242365 TBX20 A>G	7	35242365	35242365	A	G	TBX20	c.1021T>C	NM_001077653.2	NP_001071121.1:p.(Ser341Pro)	NC_000007.13:g.35242365A>G	VUS	1 lab	81d1ff6e9a
1:19018305 PAX7 G>A	1	19018305	19018305	G	A	PAX7	c.644G>A	NM_001135254.2	NP_001128726.1:p.(Arg215His)	NC_000001.10:g.19018305G>A	VUS	1 lab	81d28591d5
16:56543868 BBS2 C>T	16	56543868	56543868	C	T	BBS2	c.612+1G>A	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56543868C>T	(Likely) pathogenic	1 lab	81d3c17b9c
2:152473986 NEB C>CAAAA	2	152473986	152474002	C	CAAAA	NEB	c.11077-8_11077-5dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473999_152474002dup	(Likely) benign	1 lab	81d4f30394
2:238253305 COL6A3 G>C	2	238253305	238253305	G	C	COL6A3	c.7356C>G	NM_004369.4	NP_004360.2:p.(Asn2452Lys)	NC_000002.11:g.238253305G>C	(Likely) benign	1 lab	81d9fe0ec9
2:242622271 DTYMK G>A	2	242622271	242622271	G	A	DTYMK	c.240-2537C>T	NM_012145.4	NP_036277.2:p.?	NC_000002.11:g.242622271G>A	VUS	1 lab	81dda571a4
12:121434070 HNF1A C>T	12	121434070	121434070	C	T	HNF1A	c.961C>T	NM_000545.8	NP_000536.6:p.(Arg321Cys)	NC_000012.11:g.121434070C>T	VUS	1 lab	81de81cc6a
13:101910892 NALCN T>C	13	101910892	101910892	T	C	NALCN	c.1168A>G	NM_052867.4	NP_443099.1:p.(Ile390Val)	NC_000013.10:g.101910892T>C	VUS	1 lab	81dec8e61f
18:28649109 DSC2 C>T	18	28649109	28649109	C	T	DSC2	c.2259G>A	NM_004949.5	NP_004940.1:p.(Ala753=)	NC_000018.9:g.28649109C>T	(Likely) benign	1 lab	244a1c944c
4:1801485 FGFR3 T>C	4	1801485	1801485	T	C	FGFR3	c.391T>C	NM_000142.5	NP_000133.1:p.(Ser131Pro)	NC_000004.11:g.1801485T>C	VUS	1 lab	81e1e556d8
11:62293270 AHNAK G>A	11	62293270	62293270	G	A	AHNAK	c.8619C>T	NM_001620.3	NP_001611.1:p.(Gly2873=)	NC_000011.9:g.62293270G>A	VUS	1 lab	81e23b6ae0
9:100616303 FOXE1 C>T	9	100616303	100616303	C	T	FOXE1	c.107C>T	NM_004473.4	NP_004464.2:p.(Thr36Met)	NC_000009.11:g.100616303C>T	(Likely) benign	1 lab	81e3693697
9:135942516 CEL G>A	9	135942516	135942516	G	A	CEL	c.819G>A	NM_001807.6	NP_001798.3:p.(Arg273=)	NC_000009.11:g.135942516G>A	(Likely) benign	1 lab	81e3fe4d2f
19:38994873 RYR1 A>T	19	38994873	38994873	A	T	RYR1	c.7940A>T	NM_000540.3	NP_000531.2:p.(His2647Leu)	NC_000019.9:g.38994873A>T	VUS	1 lab	81e41591c5
6:87965560 ZNF292 A>G	6	87965560	87965560	A	G	ZNF292	c.2213A>G	NM_015021.3	NP_055836.1:p.(Asn738Ser)	NC_000006.11:g.87965560A>G	(Likely) benign	1 lab	81e487434a
12:107155008 RFX4 C>G	12	107155008	107155008	C	G	RFX4	c.1969C>G	NM_213594.3	NP_998759.1:p.(Pro657Ala)	NC_000012.11:g.107155008C>G	VUS	1 lab	244ec5cd2d
4:1309187 MAEA G>A	4	1309187	1309187	G	A	MAEA	c.255G>A	NM_001017405.3	NP_001017405.1:p.(Ala85=)	NC_000004.11:g.1309187G>A	(Likely) benign	1 lab	81eb65b191
X:57162301 SPIN2A C>T	X	57162301	57162301	C	T	SPIN2A	c.730G>A	NM_019003.5	NP_061876.3:p.(Asp244Asn)	NC_000023.10:g.57162301C>T	(Likely) benign	1 lab	81ec64b35f
4:1955092 NSD2 G>C	4	1955092	1955092	G	C	NSD2	c.2179G>C	NM_001042424.3	NP_001035889.1:p.(Val727Leu)	NC_000004.11:g.1955092G>C	(Likely) benign	1 lab	81ec9a8095
11:1267513 MUC5B C>T	11	1267513	1267513	C	T	MUC5B	c.9403C>T	NM_002458.3	NP_002449.2:p.(Leu3135Phe)	NC_000011.9:g.1267513C>T	(Likely) benign	1 lab	81eddb5621
20:11898985 BTBD3 C>T	20	11898985	11898985	C	T	BTBD3	c.62C>T	NM_014962.4	NP_055777.1:p.(Thr21Met)	NC_000020.10:g.11898985C>T	(Likely) benign	1 lab	81ee393f24
22:46931309 CELSR1 T>C	22	46931309	46931309	T	C	CELSR1	c.1759A>G	NM_001378328.1	NP_001365257.1:p.(Ile587Val)	NC_000022.10:g.46931309T>C	(Likely) benign	1 lab	81eeb5e487
15:41102314 ZFYVE19 T>C	15	41102314	41102314	T	C	ZFYVE19	c.617T>C	NM_001077268.2	NP_001070736.1:p.(Leu206Pro)	NC_000015.9:g.41102314T>C	VUS	1 lab	81f083b4db
14:50088053 MGAT2 G>A	14	50088053	50088053	G	A	MGAT2	c.67G>A	NM_002408.4	NP_002399.1:p.(Val23Ile)	NC_000014.8:g.50088053G>A	(Likely) benign	1 lab	81f09872f0
3:183210294 KLHL6 T>C	3	183210294	183210294	T	C	KLHL6	c.1552A>G	NM_130446.4	NP_569713.2:p.(Ile518Val)	NC_000003.11:g.183210294T>C	(Likely) benign	1 lab	81f2713c6b
9:34650288 GALT A>AAAAAAAAT	9	34650288	34650296	A	AAAAAAAAT	GALT	c.1060-77_1060-70dup	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34650289_34650296dup	(Likely) benign	1 lab	25b044193c
X:32716111 DMD G>A	X	32716111	32716111	G	A	DMD	c.836C>T	NM_004006.3	NP_003997.2:p.(Thr279Met)	NC_000023.10:g.32716111G>A	VUS	1 lab	8204728832
1:160209711 DCAF8 C>A	1	160209711	160209711	C	A	DCAF8	c.499G>T	NM_015726.3	NP_056541.2:p.(Ala167Ser)	NC_000001.10:g.160209711C>A	(Likely) benign	1 lab	25b0a69f59
17:65862644 BPTF G>A	17	65862644	65862644	G	A	BPTF	c.1501G>A	NM_182641.4	NP_872579.2:p.(Ala501Thr)	NC_000017.10:g.65862644G>A	(Likely) benign	1 lab	81f345a5fc
15:31332502 TRPM1 T>G	15	31332502	31332502	T	G	TRPM1	c.2135A>C	NM_001252024.2	NP_001238953.1:p.(His712Pro)	NC_000015.9:g.31332502T>G	VUS	1 lab	81f3a42b99
3:111319666 CD96 A>G	3	111319666	111319666	A	G	CD96	c.992A>G	NM_005816.5	NP_005807.1:p.(Gln331Arg)	NC_000003.11:g.111319666A>G	(Likely) benign	1 lab	81f4c227c5
1:8422900 RERE G>A	1	8422900	8422900	G	A	RERE	c.1745C>T	NM_001042681.2	NP_001036146.1:p.(Ser582Leu)	NC_000001.10:g.8422900G>A	VUS	1 lab	81f537cd05
14:24774877 CIDEB C>T	14	24774877	24774877	C	T	CIDEB	c.622G>A	NM_001393339.1	NP_001380268.1:p.(Glu208Lys)	NC_000014.8:g.24774877C>T	VUS	1 lab	81f614dffb
6:29643702 ZFP57 C>T	6	29643702	29643702	C	T	ZFP57	c.250+8G>A	NM_001109809.5	NP_001103279.2:p.?	NC_000006.11:g.29643702C>T	(Likely) benign	1 lab	81f7daa044
3:32169619 GPD1L A>T	3	32169619	32169619	A	T	GPD1L	c.99A>T	NM_015141.3	NP_055956.1:p.(Lys33Asn)	NC_000003.11:g.32169619A>T	(Likely) benign	1 lab	25b3de5cb0
10:64573389 EGR2 C>G	10	64573389	64573389	C	G	EGR2	c.1009G>C	NM_000399.5	NP_000390.2:p.(Glu337Gln)	NC_000010.10:g.64573389C>G	VUS	1 lab	81f893f6a7
12:102155119 GNPTAB G>A	12	102155119	102155119	G	A	GNPTAB	c.2921C>T	NM_024312.5	NP_077288.2:p.(Pro974Leu)	NC_000012.11:g.102155119G>A	VUS	1 lab	81f8cf2f17
20:60885116 LAMA5 C>T	20	60885116	60885116	C	T	LAMA5	c.10756G>A	NM_005560.6	NP_005551.3:p.(Gly3586Arg)	NC_000020.10:g.60885116C>T	VUS	1 lab	81f9542962
3:93722751 ARL13B G>T	3	93722751	93722751	G	T	ARL13B	c.379G>T	NM_001174150.2	NP_001167621.1:p.(Val127Leu)	NC_000003.11:g.93722751G>T	VUS	1 lab	81fcab2016
16:1255133 CACNA1H C>T	16	1255133	1255133	C	T	CACNA1H	c.2471C>T	NM_021098.3	NP_066921.2:p.(Ala824Val)	NC_000016.9:g.1255133C>T	(Likely) benign	1 lab	820f310296
9:107289460 OR13C4 C>A	9	107289460	107289460	C	A	OR13C4	c.31G>T	NM_001001919.1	NP_001001919.1:p.(Glu11Ter)	NC_000009.11:g.107289460C>A	(Likely) benign	1 lab	8202cf656a
11:44296926 ALX4 C>G	11	44296926	44296926	C	G	ALX4	c.749G>C	NM_021926.4	NP_068745.2:p.(Arg250Thr)	NC_000011.9:g.44296926C>G	VUS	1 lab	82042dc653
9:135946388 CEL G>A	9	135946388	135946388	G	A	CEL	c.1499G>A	NM_001807.6	NP_001798.3:p.(Gly500Asp)	NC_000009.11:g.135946388G>A	(Likely) benign	1 lab	82047bdc5e
19:11172457 SMARCA4 C>A	19	11172457	11172457	C	A	SMARCA4	c.4912-3C>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11172457C>A	(Likely) benign	1 lab	8204bc6fda
7:77649102 MAGI2 G>T	7	77649102	77649102	G	T	MAGI2	c.3898C>A	NM_012301.4	NP_036433.2:p.(Leu1300Ile)	NC_000007.13:g.77649102G>T	VUS	1 lab	82061d1d79
19:5696111 LONP1 A>G	19	5696111	5696111	A	G	LONP1	c.1967T>C	NM_004793.4	NP_004784.2:p.(Ile656Thr)	NC_000019.9:g.5696111A>G	VUS	1 lab	8206d5cc40
17:19561045 ALDH3A2 G>GT	17	19561045	19561049	G	GT	ALDH3A2	c.681-9dup	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19561049dup	(Likely) benign	1 lab	8206fa52c6
12:113573237 RASAL1 C>G	12	113573237	113573237	C	G	RASAL1	c.31G>C	NM_001301202.2	NP_001288131.1:p.(Val11Leu)	NC_000012.11:g.113573237C>G	(Likely) benign	1 lab	82090dbf22
17:18129076 LLGL1 A>G	17	18129076	18129076	A	G	LLGL1	c.80A>G	NM_004140.4	NP_004131.4:p.(Lys27Arg)	NC_000017.10:g.18129076A>G	VUS	1 lab	820ad06d30
2:179437183 TTN C>T	2	179437183	179437183	C	T	TTN	c.73676G>A	NM_001267550.2	NP_001254479.2:p.(Arg24559Gln)	NC_000002.11:g.179437183C>T	VUS	1 lab	244f7c9065
8:134260982 NDRG1 G>C	8	134260982	134260982	G	C	NDRG1	c.731C>G	NM_006096.4	NP_006087.2:p.(Pro244Arg)	NC_000008.10:g.134260982G>C	VUS	1 lab	820eaa892e
X:152845625 ATP2B3 T>C	X	152845625	152845625	T	C	ATP2B3	c.3532T>C	NM_001001344.3	NP_001001344.1:p.(Ser1178Pro)	NC_000023.10:g.152845625T>C	VUS	1 lab	820f22807d
7:100285642 GIGYF1 G>A	7	100285642	100285642	G	A	GIGYF1	c.127C>T	NM_001375765.1	NP_001362694.1:p.(Arg43Ter)	NC_000007.13:g.100285642G>A	VUS	1 lab	82117d77af
1:43396509 SLC2A1 G>C	1	43396509	43396509	G	C	SLC2A1	c.304C>G	NM_006516.4	NP_006507.2:p.(Leu102Val)	NC_000001.10:g.43396509G>C	VUS	1 lab	8212a11d6d
7:1515983 INTS1 C>T	7	1515983	1515983	C	T	INTS1	c.5260G>A	NM_001080453.3	NP_001073922.2:p.(Ala1754Thr)	NC_000007.13:g.1515983C>T	(Likely) benign	1 lab	82134db03f
4:6303666 WFS1 G>A	4	6303666	6303666	G	A	WFS1	c.2144G>A	NM_006005.3	NP_005996.2:p.(Ser715Asn)	NC_000004.11:g.6303666G>A	VUS	1 lab	82144e99b6
12:50492589 SMARCD1 C>G	12	50492589	50492589	C	G	SMARCD1	c.1485C>G	NM_003076.5	NP_003067.3:p.(Phe495Leu)	NC_000012.11:g.50492589C>G	VUS	1 lab	82150f11a3
10:112361866 SMC3 A>G	10	112361866	112361866	A	G	SMC3	c.3035A>G	NM_005445.4	NP_005436.1:p.(Lys1012Arg)	NC_000010.10:g.112361866A>G	(Likely) benign	1 lab	821510b00f
2:38301522 CYP1B1 G>A	2	38301522	38301522	G	A	CYP1B1	c.1010C>T	NM_000104.4	NP_000095.2:p.(Thr337Ile)	NC_000002.11:g.38301522G>A	VUS	1 lab	8216c18a52
9:131024989 GOLGA2 G>A	9	131024989	131024989	G	A	GOLGA2	c.993-6C>T	NM_001366244.2	NP_001353173.2:p.?	NC_000009.11:g.131024989G>A	(Likely) benign	1 lab	8216c63d61
12:115109665 TBX3 G>A	12	115109665	115109665	G	A	TBX3	c.2153C>T	NM_005996.4	NP_005987.3:p.(Ser718Phe)	NC_000012.11:g.115109665G>A	VUS	1 lab	821726a14f
11:71939530 INPPL1 C>T	11	71939530	71939530	C	T	INPPL1	c.385C>T	NM_001567.4	NP_001558.3:p.(Arg129Trp)	NC_000011.9:g.71939530C>T	VUS	1 lab	82178e6bb9
3:49112098 QRICH1 T>A	3	49112098	49112098	T	A	QRICH1	c.309+2044A>T	NM_198880.3	NP_942581.1:p.?	NC_000003.11:g.49112098T>A	(Likely) benign	1 lab	8219efd4ea
10:76788793 KAT6B G>A	10	76788793	76788793	G	A	KAT6B	c.4211G>A	NM_012330.4	NP_036462.2:p.(Arg1404His)	NC_000010.10:g.76788793G>A	(Likely) benign	1 lab	821a3a861f
17:7797171 CHD3 G>A	17	7797171	7797171	G	A	CHD3	c.842G>A	NM_001005273.3	NP_001005273.1:p.(Arg281His)	NC_000017.10:g.7797171G>A	(Likely) benign	1 lab	821a5bc5d7
16:88781082 CTU2 C>T	16	88781082	88781082	C	T	CTU2	c.1289C>T	NM_001012759.3	NP_001012777.1:p.(Pro430Leu)	NC_000016.9:g.88781082C>T	(Likely) benign	1 lab	821b8858ab
21:47545698 COL6A2 G>A	21	47545698	47545698	G	A	COL6A2	c.1970-1G>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47545698G>A	VUS	1 lab	821c00fff0
5:151202371 GLRA1 G>C	5	151202371	151202371	G	C	GLRA1	c.1213C>G	NM_000171.4	NP_000162.2:p.(Arg405Gly)	NC_000005.9:g.151202371G>C	VUS	1 lab	821e60546c
3:33156042 CRTAP C>A	3	33156042	33156042	C	A	CRTAP	c.471+2C>A	NM_006371.5	NP_006362.1:p.?	NC_000003.11:g.33156042C>A	(Likely) pathogenic	1 lab	821f975843
12:52056873 SCN8A A>C	12	52056873	52056873	A	C	SCN8A	c.272A>C	NM_001330260.2	NP_001317189.1:p.(Gln91Pro)	NC_000012.11:g.52056873A>C	VUS	1 lab	821fc9d1fb
19:9452879 ZNF559 C>A	19	9452879	9452879	C	A	ZNF559	c.752C>A	NM_032497.3	NP_115886.1:p.(Thr251Asn)	NC_000019.9:g.9452879C>A	(Likely) benign	1 lab	821ff5118d
1:153653757 NPR1 G>C	1	153653757	153653757	G	C	NPR1	c.1023G>C	NM_000906.4	NP_000897.3:p.(Met341Ile)	NC_000001.10:g.153653757G>C	(Likely) benign	1 lab	822342dddb
20:43052872 HNF4A G>A	20	43052872	43052872	G	A	HNF4A	c.1107G>A	NM_000457.5	NP_000448.3:p.(Leu369=)	NC_000020.10:g.43052872G>A	(Likely) benign	1 lab	822509ce7b
22:18640315 USP18 A>C	22	18640315	18640315	A	C	USP18	c.-106-10A>C	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18640315A>C	(Likely) benign	1 lab	8226ebbc2c
12:27641445 SMCO2 C>T	12	27641445	27641445	C	T	SMCO2	c.565C>T	NM_001395208.2	NP_001382137.1:p.(Arg189Trp)	NC_000012.11:g.27641445C>T	VUS	1 lab	8229684ed6
11:17667402 OTOG C>T	11	17667402	17667402	C	T	OTOG	c.8653C>T	NM_001292063.2	NP_001278992.1:p.(Arg2885Cys)	NC_000011.9:g.17667402C>T	VUS	1 lab	8229f21e29
6:118786654 CEP85L G>A	6	118786654	118786654	G	A	CEP85L	c.2332C>T	NM_001042475.3	NP_001035940.1:p.(Gln778Ter)	NC_000006.11:g.118786654G>A	VUS	1 lab	822a0245e6
2:85577994 RETSAT A>C	2	85577994	85577994	A	C	RETSAT	c.506T>G	NM_017750.4	NP_060220.3:p.(Met169Arg)	NC_000002.11:g.85577994A>C	VUS	1 lab	822c33bbd4
16:58592454 CNOT1 T>A	16	58592454	58592454	T	A	CNOT1	c.2255A>T	NM_016284.5	NP_057368.3:p.(Lys752Ile)	NC_000016.9:g.58592454T>A	VUS	1 lab	8230c3dcb0
17:45056365 RPRML C>A	17	45056365	45056365	C	A	RPRML	c.9G>T	NM_203400.5	NP_981945.1:p.(Ala3=)	NC_000017.10:g.45056365C>A	VUS	1 lab	823209d522
X:53246418 KDM5C C>T	X	53246418	53246418	C	T	KDM5C	c.564G>A	NM_004187.5	NP_004178.2:p.(Lys188=)	NC_000023.10:g.53246418C>T	(Likely) benign	1 lab	82322c82e7
22:51142273 SHANK3 C>T	22	51142273	51142273	C	T	SHANK3	c.1838-15C>T	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51142273C>T	(Likely) benign	1 lab	25b409bb02
4:94690482 GRID2 A>T	4	94690482	94690482	A	T	GRID2	c.2482A>T	NM_001510.4	NP_001501.2:p.(Ile828Leu)	NC_000004.11:g.94690482A>T	VUS	1 lab	8235ba16fd
X:119565218 LAMP2 A>G	X	119565218	119565218	A	G	LAMP2	c.1193T>C	NM_002294.3	NP_002285.1:p.(Ile398Thr)	NC_000023.10:g.119565218A>G	VUS	1 lab	245032246b
1:235914582 LYST TT>GAATC	1	235914582	235914583	TT	GAATC	LYST	c.7707_7708delinsGATTC	NM_000081.4	NP_000072.2:p.(Asn2570delinsIleHis)	NC_000001.10:g.235914582_235914583delinsGAATC	VUS	1 lab	8236daf537
19:41895669 EXOSC5 C>A	19	41895669	41895669	C	A	EXOSC5	c.525+1G>T	NM_020158.4	NP_064543.3:p.?	NC_000019.9:g.41895669C>A	VUS	1 lab	823865fb07
X:99657574 PCDH19 C>T	X	99657574	99657574	C	T	PCDH19	c.2564G>A	NM_001184880.2	NP_001171809.1:p.(Ser855Asn)	NC_000023.10:g.99657574C>T	(Likely) benign	1 lab	82387c4320
19:36595419 WDR62 G>C	19	36595419	36595419	G	C	WDR62	c.4154-1G>C	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36595419G>C	VUS	1 lab	823a2a5058
19:4554460 SEMA6B C>T	19	4554460	4554460	C	T	SEMA6B	c.711G>A	NM_032108.4	NP_115484.2:p.(Trp237Ter)	NC_000019.9:g.4554460C>T	VUS	1 lab	823ab91d12
16:2161237 PKD1 C>T	16	2161237	2161237	C	T	PKD1	c.3931G>A	NM_001009944.3	NP_001009944.3:p.(Ala1311Thr)	NC_000016.9:g.2161237C>T	(Likely) benign	1 lab	823ae99c72
3:45963259 FYCO1 A>G	3	45963259	45963259	A	G	FYCO1	c.4435T>C	NM_024513.4	NP_078789.2:p.(Ter1479GlnextTer26)	NC_000003.11:g.45963259A>G	VUS	1 lab	823d2cc630
22:32109098 PRR14L A>G	22	32109098	32109098	A	G	PRR14L	c.4727T>C	NM_173566.3	NP_775837.2:p.(Leu1576Ser)	NC_000022.10:g.32109098A>G	(Likely) benign	1 lab	823e59f8b7
2:73747122 ALMS1 A>C	2	73747122	73747122	A	C	ALMS1	c.9760A>C	NM_001378454.1	NP_001365383.1:p.(Thr3254Pro)	NC_000002.11:g.73747122A>C	VUS	1 lab	824356c432
14:102323093 PPP2R5C T>C	14	102323093	102323093	T	C	PPP2R5C	c.330T>C	NM_001352913.2	NP_001339842.1:p.(Phe110=)	NC_000014.8:g.102323093T>C	(Likely) benign	1 lab	8244696c40
15:89398670 ACAN G>A	15	89398670	89398670	G	A	ACAN	c.2854G>A	NM_001369268.1	NP_001356197.1:p.(Gly952Arg)	NC_000015.9:g.89398670G>A	(Likely) benign	1 lab	8244bacc72
4:81974620 BMP3 T>A	4	81974620	81974620	T	A	BMP3	c.1349T>A	NM_001201.5	NP_001192.4:p.(Phe450Tyr)	NC_000004.11:g.81974620T>A	(Likely) benign	1 lab	8246ca523d
1:42045557 HIVEP3 T>C	1	42045557	42045557	T	C	HIVEP3	c.4912A>G	NM_024503.5	NP_078779.2:p.(Asn1638Asp)	NC_000001.10:g.42045557T>C	(Likely) benign	1 lab	8247fed7a2
10:93943 TUBB8 A>G	10	93943	93943	A	G	TUBB8	c.389T>C	NM_177987.3	NP_817124.1:p.(Leu130Pro)	NC_000010.10:g.93943A>G	(Likely) benign	1 lab	82480d1fa1
3:50251607 SLC38A3 G>A	3	50251607	50251607	G	A	SLC38A3	c.-26G>A	NM_006841.6	NP_006832.1:p.?	NC_000003.11:g.50251607G>A	VUS	1 lab	824a057a7b
6:51613307 PKHD1 A>C	6	51613307	51613307	A	C	PKHD1	c.9107T>G	NM_138694.4	NP_619639.3:p.(Val3036Gly)	NC_000006.11:g.51613307A>C	(Likely) pathogenic	1 lab	824c2ff27b
11:71940602 INPPL1 G>A	11	71940602	71940602	G	A	INPPL1	c.753G>A	NM_001567.4	NP_001558.3:p.(Gln251=)	NC_000011.9:g.71940602G>A	VUS	1 lab	824f089cba
11:17575043 OTOG G>A	11	17575043	17575043	G	A	OTOG	c.517G>A	NM_001292063.2	NP_001278992.1:p.(Glu173Lys)	NC_000011.9:g.17575043G>A	VUS	1 lab	824f0bd879
19:11437473 RAB3D T>TG	19	11437473	11437478	T	TG	RAB3D	c.473-1213dup	NM_004283.4	NP_004274.1:p.?	NC_000019.9:g.11437478dup	VUS	1 lab	8250c97ff3
10:104375090 SUFU C>T	10	104375090	104375090	C	T	SUFU	c.1088C>T	NM_016169.4	NP_057253.2:p.(Thr363Met)	NC_000010.10:g.104375090C>T	VUS	1 lab	8250d74645
11:88300447 GRM5 T>C	11	88300447	88300447	T	C	GRM5	c.2404A>G	NM_001143831.3	NP_001137303.1:p.(Met802Val)	NC_000011.9:g.88300447T>C	VUS	1 lab	8251fc2109
5:112173933 APC C>T	5	112173933	112173933	C	T	APC	c.2642C>T	NM_000038.6	NP_000029.2:p.(Ser881Phe)	NC_000005.9:g.112173933C>T	(Likely) benign	1 lab	82528ed9f8
7:100275829 GNB2 C>T	7	100275829	100275829	C	T	GNB2	c.606C>T	NM_005273.4	NP_005264.2:p.(Gly202=)	NC_000007.13:g.100275829C>T	(Likely) benign	1 lab	825418b2cd
22:32297598 DEPDC5 G>A	22	32297598	32297598	G	A	DEPDC5	c.4376-130G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32297598G>A	(Likely) benign	1 lab	25b52a3d94
8:144993518 PLEC G>A	8	144993518	144993518	G	A	PLEC	c.10471C>T	NM_201384.3	NP_958786.1:p.(Arg3491Cys)	NC_000008.10:g.144993518G>A	VUS	1 lab	82546c7759
17:45360839 ITGB3 C>T	17	45360839	45360839	C	T	ITGB3	c.285C>T	NM_000212.3	NP_000203.2:p.(Leu95=)	NC_000017.10:g.45360839C>T	(Likely) benign	1 lab	825479c1da
X:44894228 KDM6A A>C	X	44894228	44894228	A	C	KDM6A	c.617A>C	NM_001291415.2	NP_001278344.1:p.(Glu206Ala)	NC_000023.10:g.44894228A>C	VUS	1 lab	8254e8cfcb
1:38288081 MTF1 C>A	1	38288081	38288081	C	A	MTF1	c.1479G>T	NM_005955.3	NP_005946.2:p.(Gln493His)	NC_000001.10:g.38288081C>A	VUS	1 lab	8256872702
4:1807481 FGFR3 C>T	4	1807481	1807481	C	T	FGFR3	c.1650C>T	NM_000142.5	NP_000133.1:p.(Pro550=)	NC_000004.11:g.1807481C>T	(Likely) benign	1 lab	8257ead676
5:149514583 PDGFRB C>A	5	149514583	149514583	C	A	PDGFRB	c.365-4G>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149514583C>A	(Likely) benign	1 lab	825826fdb5
3:195595212 TNK2 C>T	3	195595212	195595212	C	T	TNK2	c.1957G>A	NM_001382273.1	NP_001369202.1:p.(Val653Met)	NC_000003.11:g.195595212C>T	(Likely) benign	1 lab	825885bfd5
11:108196134 ATM A>G	11	108196134	108196134	A	G	ATM	c.6670A>G	NM_000051.4	NP_000042.3:p.(Met2224Val)	NC_000011.9:g.108196134A>G	(Likely) benign	1 lab	825a9fb331
6:161134081 PLG C>T	6	161134081	161134081	C	T	PLG	c.471C>T	NM_000301.3	NP_000292.1:p.(Asn157=)	NC_000006.11:g.161134081C>T	(Likely) benign	1 lab	25b6ec61c7
1:156105884 LMNA C>T	1	156105884	156105884	C	T	LMNA	c.1129C>T	NM_170707.4	NP_733821.1:p.(Arg377Cys)	NC_000001.10:g.156105884C>T	(Likely) pathogenic	1 lab	825da05e1a
12:112884150 PTPN11 T>G	12	112884150	112884150	T	G	PTPN11	c.85T>G	NM_002834.5	NP_002825.3:p.(Phe29Val)	NC_000012.11:g.112884150T>G	VUS	1 lab	825de12813
10:43606933 RET A>T	10	43606933	43606933	A	T	RET	c.1522+20A>T	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43606933A>T	VUS	1 lab	825e370eb0
9:119460027 ASTN2 T>G	9	119460027	119460027	T	G	ASTN2	c.2806+28023A>C	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460027T>G	(Likely) benign	1 lab	8260ad9706
4:94006432 GRID2 T>C	4	94006432	94006432	T	C	GRID2	c.529+2T>C	NM_001510.4	NP_001501.2:p.?	NC_000004.11:g.94006432T>C	VUS	1 lab	8260bcb8a7
3:129200460 IFT122 C>T	3	129200460	129200460	C	T	IFT122	c.1576C>T	NM_052989.3	NP_443715.1:p.(Arg526Cys)	NC_000003.11:g.129200460C>T	VUS	1 lab	8260d61bbd
19:621311 POLRMT A>G	19	621311	621311	A	G	POLRMT	c.2387T>C	NM_005035.4	NP_005026.3:p.(Leu796Pro)	NC_000019.9:g.621311A>G	VUS	1 lab	826194eab9
14:39717064 MIA2 C>T	14	39717064	39717064	C	T	MIA2	c.1286C>T	NM_001329214.4	NP_001316143.1:p.(Thr429Met)	NC_000014.8:g.39717064C>T	(Likely) benign	1 lab	82642be2fb
1:225609937 LBR T>A	1	225609937	225609937	T	A	LBR	c.208A>T	NM_002296.4	NP_002287.2:p.(Ser70Cys)	NC_000001.10:g.225609937T>A	VUS	1 lab	826446eafb
19:1456122 APC2 G>A	19	1456122	1456122	G	A	APC2	c.687G>A	NM_005883.3	NP_005874.1:p.(Ala229=)	NC_000019.9:g.1456122G>A	(Likely) benign	1 lab	8264ef9730
6:32009137 CYP21A2 C>T	6	32009137	32009137	C	T	CYP21A2	c.*226C>T	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32009137C>T	VUS	1 lab	826545996a
6:90499910 MDN1 T>G	6	90499910	90499910	T	G	MDN1	c.1066A>C	NM_014611.3	NP_055426.1:p.(Lys356Gln)	NC_000006.11:g.90499910T>G	VUS	1 lab	82658f4a15
11:85347215 TMEM126B G>T	11	85347215	85347215	G	T	TMEM126B	c.635G>T	NM_018480.7	NP_060950.3:p.(Gly212Val)	NC_000011.9:g.85347215G>T	VUS	1 lab	82666d7c5e
10:127461185 MMP21 G>C	10	127461185	127461185	G	C	MMP21	c.832C>G	NM_147191.1	NP_671724.1:p.(Leu278Val)	NC_000010.10:g.127461185G>C	VUS	1 lab	8267101b65
2:179654220 TTN C>G	2	179654220	179654220	C	G	TTN	c.1943G>C	NM_001267550.2	NP_001254479.2:p.(Arg648Thr)	NC_000002.11:g.179654220C>G	VUS	1 lab	8267c10d37
4:515985 PIGG C>T	4	515985	515985	C	T	PIGG	c.1614+255C>T	NM_001127178.3	NP_001120650.1:p.?	NC_000004.11:g.515985C>T	(Likely) pathogenic	1 lab	8268228d77
17:7481660 EIF4A1 A>C	17	7481660	7481660	A	C	EIF4A1	c.1077A>C	NM_001416.4	NP_001407.1:p.(Arg359Ser)	NC_000017.10:g.7481660A>C	VUS	1 lab	82684fb2b7
4:6292974 WFS1 G>A	4	6292974	6292974	G	A	WFS1	c.511G>A	NM_006005.3	NP_005996.2:p.(Asp171Asn)	NC_000004.11:g.6292974G>A	VUS	1 lab	826891976a
3:49885577 TRAIP T>C	3	49885577	49885577	T	C	TRAIP	c.155A>G	NM_005879.3	NP_005870.2:p.(Gln52Arg)	NC_000003.11:g.49885577T>C	(Likely) benign	1 lab	8268e08980
8:70744412 SLCO5A1 T>A	8	70744412	70744412	T	A	SLCO5A1	c.497A>T	NM_030958.3	NP_112220.2:p.(Glu166Val)	NC_000008.10:g.70744412T>A	VUS	1 lab	826953e6fa
12:32975420 PKP2 C>T	12	32975420	32975420	C	T	PKP2	c.1952G>A	NM_004572.4	NP_004563.2:p.(Arg651Gln)	NC_000012.11:g.32975420C>T	VUS	1 lab	2454ea85ac
10:100177927 HPS1 G>A	10	100177927	100177927	G	A	HPS1	c.1940+5C>T	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100177927G>A	(Likely) benign	1 lab	826ca982fd
16:89789920 ZNF276 G>A	16	89789920	89789920	G	A	ZNF276	c.809G>A	NM_001113525.2	NP_001106997.1:p.(Arg270Gln)	NC_000016.9:g.89789920G>A	(Likely) benign	1 lab	826d157587
1:145457106 POLR3GL T>C	1	145457106	145457106	T	C	POLR3GL	c.457-2A>G	NM_032305.3	NP_115681.1:p.?	NC_000001.10:g.145457106T>C	VUS	1 lab	826d72ee05
1:1273998 DVL1 T>C	1	1273998	1273998	T	C	DVL1	c.1243A>G	NM_001330311.2	NP_001317240.1:p.(Met415Val)	NC_000001.10:g.1273998T>C	VUS	1 lab	826d97333e
14:93652846 LYSET C>A	14	93652846	93652846	C	A	LYSET	c.322C>A	NM_001098621.4	NP_001092091.2:p.(Leu108Met)	NC_000014.8:g.93652846C>A	VUS	1 lab	826f7bb02a
11:2591894 KCNQ1 G>A	11	2591894	2591894	G	A	KCNQ1	c.514G>A	NM_000218.3	NP_000209.2:p.(Val172Met)	NC_000011.9:g.2591894G>A	(Likely) benign	1 lab	826fe0208a
5:13716783 DNAH5 G>C	5	13716783	13716783	G	C	DNAH5	c.12722C>G	NM_001369.3	NP_001360.1:p.(Thr4241Ser)	NC_000005.9:g.13716783G>C	VUS	1 lab	827030cf5d
3:194151845 ATP13A3 G>T	3	194151845	194151845	G	T	ATP13A3	c.2532C>A	NM_001367549.1	NP_001354478.1:p.(Asp844Glu)	NC_000003.11:g.194151845G>T	VUS	1 lab	8270b9ad5f
X:142113887 SPANXN4 G>A	X	142113887	142113887	G	A	SPANXN4	c.78+9G>A	NM_001009613.4	NP_001009613.1:p.?	NC_000023.10:g.142113887G>A	(Likely) benign	1 lab	8272b90f69
12:121416600 HNF1A C>T	12	121416600	121416600	C	T	HNF1A	c.29C>T	NM_000545.8	NP_000536.6:p.(Thr10Met)	NC_000012.11:g.121416600C>T	VUS	1 lab	827319a0f0
16:2160498 PKD1 C>T	16	2160498	2160498	C	T	PKD1	c.4670G>A	NM_001009944.3	NP_001009944.3:p.(Arg1557His)	NC_000016.9:g.2160498C>T	(Likely) benign	1 lab	82737c5ac6
16:89347536 ANKRD11 A>T	16	89347536	89347536	A	T	ANKRD11	c.5414T>A	NM_013275.6	NP_037407.4:p.(Val1805Asp)	NC_000016.9:g.89347536A>T	VUS	1 lab	8274452fb9
1:8418582 RERE T>G	1	8418582	8418582	T	G	RERE	c.4013A>C	NM_001042681.2	NP_001036146.1:p.(His1338Pro)	NC_000001.10:g.8418582T>G	VUS	1 lab	8275884455
7:72744255 FKBP6 G>C	7	72744255	72744255	G	C	FKBP6	c.368G>C	NM_003602.5	NP_003593.3:p.(Cys123Ser)	NC_000007.13:g.72744255G>C	(Likely) benign	1 lab	82761b0e99
9:140708907 EHMT1 T>G	9	140708907	140708907	T	G	EHMT1	c.3205T>G	NM_024757.5	NP_079033.4:p.(Ser1069Ala)	NC_000009.11:g.140708907T>G	(Likely) benign	1 lab	8277db297f
5:150859035 SLC36A1 C>T	5	150859035	150859035	C	T	SLC36A1	c.1144C>T	NM_078483.4	NP_510968.2:p.(Leu382=)	NC_000005.9:g.150859035C>T	(Likely) benign	1 lab	82791545b5
11:17449859 ABCC8 C>T	11	17449859	17449859	C	T	ABCC8	c.2017G>A	NM_000352.6	NP_000343.2:p.(Asp673Asn)	NC_000011.9:g.17449859C>T	VUS	1 lab	827a0fca37
15:43525839 TGM5 A>G	15	43525839	43525839	A	G	TGM5	c.1922T>C	NM_201631.4	NP_963925.2:p.(Ile641Thr)	NC_000015.9:g.43525839A>G	VUS	1 lab	827aa7973d
19:18900001 COMP C>A	19	18900001	18900001	C	A	COMP	c.496G>T	NM_000095.3	NP_000086.2:p.(Val166Leu)	NC_000019.9:g.18900001C>A	(Likely) benign	1 lab	827b3a999d
1:152191484 HRNR G>T	1	152191484	152191484	G	T	HRNR	c.2621C>A	NM_001009931.3	NP_001009931.1:p.(Ser874Tyr)	NC_000001.10:g.152191484G>T	(Likely) benign	1 lab	827b6c95aa
1:196309708 KCNT2 T>C	1	196309708	196309708	T	C	KCNT2	c.1554-8A>G	NM_198503.5	NP_940905.2:p.?	NC_000001.10:g.196309708T>C	(Likely) benign	1 lab	827d947988
19:1037715 CNN2 T>C	19	1037715	1037715	T	C	CNN2	c.746T>C	NM_004368.4	NP_004359.1:p.(Met249Thr)	NC_000019.9:g.1037715T>C	(Likely) benign	1 lab	827ebe0225
6:30680111 MDC1 T>C	6	30680111	30680111	T	C	MDC1	c.1608A>G	NM_014641.3	NP_055456.2:p.(Ile536Met)	NC_000006.11:g.30680111T>C	(Likely) benign	1 lab	828317a57e
7:140476749 BRAF G>A	7	140476749	140476749	G	A	BRAF	c.1657C>T	NM_004333.6	NP_004324.2:p.(Leu553Phe)	NC_000007.13:g.140476749G>A	VUS	1 lab	2457e64401
17:71196022 COG1 T>G	17	71196022	71196022	T	G	COG1	c.932T>G	NM_018714.3	NP_061184.1:p.(Leu311Arg)	NC_000017.10:g.71196022T>G	VUS	1 lab	82849bcd07
5:1266564 TERT C>T	5	1266564	1266564	C	T	TERT	c.2654+15G>A	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1266564C>T	(Likely) benign	1 lab	25bbab818b
18:19780661 GATA6 C>G	18	19780661	19780661	C	G	GATA6	c.1663C>G	NM_005257.6	NP_005248.2:p.(Pro555Ala)	NC_000018.9:g.19780661C>G	(Likely) benign	1 lab	828773be09
17:63533150 AXIN2 T>G	17	63533150	63533150	T	G	AXIN2	c.1744A>C	NM_004655.4	NP_004646.3:p.(Asn582His)	NC_000017.10:g.63533150T>G	VUS	1 lab	8287a5bf2b
19:11338101 DOCK6 C>T	19	11338101	11338101	C	T	DOCK6	c.2867G>A	NM_020812.4	NP_065863.2:p.(Arg956His)	NC_000019.9:g.11338101C>T	VUS	1 lab	8288abbe4d
2:239990185 HDAC4 A>G	2	239990185	239990185	A	G	HDAC4	c.2869T>C	NM_001378414.1	NP_001365343.1:p.(Cys957Arg)	NC_000002.11:g.239990185A>G	VUS	1 lab	8288eb0dc5
1:28304899 EYA3 T>C	1	28304899	28304899	T	C	EYA3	c.1627A>G	NM_001990.4	NP_001981.2:p.(Ile543Val)	NC_000001.10:g.28304899T>C	VUS	1 lab	828b09c8af
1:35250613 GJB3 G>A	1	35250613	35250613	G	A	GJB3	c.250G>A	NM_024009.3	NP_076872.1:p.(Val84Ile)	NC_000001.10:g.35250613G>A	VUS	1 lab	828b1d88f1
9:130588110 ENG C>A	9	130588110	130588110	C	A	ENG	c.553G>T	NM_000118.3	NP_000109.1:p.(Glu185Ter)	NC_000009.11:g.130588110C>A	(Likely) pathogenic	1 lab	25bce9c8f0
7:42006048 GLI3 G>A	7	42006048	42006048	G	A	GLI3	c.2623C>T	NM_000168.6	NP_000159.3:p.(Arg875Cys)	NC_000007.13:g.42006048G>A	(Likely) benign	1 lab	828bff4460
10:97442416 TCTN3 T>C	10	97442416	97442416	T	C	TCTN3	c.1444A>G	NM_015631.6	NP_056446.4:p.(Ser482Gly)	NC_000010.10:g.97442416T>C	(Likely) benign	1 lab	828e1bb1e7
9:140008478 DPP7 G>T	9	140008478	140008478	G	T	DPP7	c.324C>A	NM_013379.3	NP_037511.2:p.(Arg108=)	NC_000009.11:g.140008478G>T	VUS	1 lab	828e4d8dfb
5:57755609 PLK2 G>C	5	57755609	57755609	G	C	PLK2	c.178C>G	NM_006622.4	NP_006613.2:p.(His60Asp)	NC_000005.9:g.57755609G>C	VUS	1 lab	828f44c26d
22:44495998 PARVB G>A	22	44495998	44495998	G	A	PARVB	c.268G>A	NM_013327.5	NP_037459.2:p.(Val90Ile)	NC_000022.10:g.44495998G>A	(Likely) benign	1 lab	8291c8682e
17:7123499 ACADVL G>A	17	7123499	7123499	G	A	ACADVL	c.121G>A	NM_000018.4	NP_000009.1:p.(Ala41Thr)	NC_000017.10:g.7123499G>A	VUS	1 lab	82925c7523
16:2159240 PKD1 C>G	16	2159240	2159240	C	G	PKD1	c.5928G>C	NM_001009944.3	NP_001009944.3:p.(Val1976=)	NC_000016.9:g.2159240C>G	(Likely) benign	1 lab	8293644039
9:134103728 NUP214 C>T	9	134103728	134103728	C	T	NUP214	c.6074+10C>T	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134103728C>T	(Likely) benign	1 lab	829548962a
5:14485286 TRIO C>T	5	14485286	14485286	C	T	TRIO	c.6766C>T	NM_007118.4	NP_009049.2:p.(Pro2256Ser)	NC_000005.9:g.14485286C>T	(Likely) benign	1 lab	8296602ae2
11:694949 DEAF1 TGCCGCG>T	11	694949	694966	TGCCGCG	T	DEAF1	c.93_98del	NM_021008.4	NP_066288.2:p.(Ala32_Ala33del)	NC_000011.9:g.694961_694966del	VUS	1 lab	829712cddf
14:21862309 CHD8 C>T	14	21862309	21862309	C	T	CHD8	c.5645G>A	NM_001170629.2	NP_001164100.1:p.(Arg1882Lys)	NC_000014.8:g.21862309C>T	(Likely) benign	1 lab	8297abb6a5
6:149699692 TAB2 A>G	6	149699692	149699692	A	G	TAB2	c.641A>G	NM_001292034.3	NP_001278963.1:p.(Tyr214Cys)	NC_000006.11:g.149699692A>G	VUS	1 lab	829aaf07a9
6:44195087 SLC29A1 G>C	6	44195087	44195087	G	C	SLC29A1	c.29+8G>C	NM_001372327.1	NP_001359256.1:p.?	NC_000006.11:g.44195087G>C	(Likely) benign	1 lab	829b1f3b37
15:48718005 FBN1 C>T	15	48718005	48718005	C	T	FBN1	c.7261G>A	NM_000138.5	NP_000129.3:p.(Asp2421Asn)	NC_000015.9:g.48718005C>T	VUS	1 lab	829fa7239c
15:89401341 ACAN C>T	15	89401341	89401341	C	T	ACAN	c.5525C>T	NM_001369268.1	NP_001356197.1:p.(Thr1842Ile)	NC_000015.9:g.89401341C>T	(Likely) benign	1 lab	829fcbc8a4
5:11111097 CTNND2 G>A	5	11111097	11111097	G	A	CTNND2	c.2336C>T	NM_001332.4	NP_001323.1:p.(Thr779Met)	NC_000005.9:g.11111097G>A	VUS	1 lab	82a0ef8f99
20:11900442 BTBD3 G>A	20	11900442	11900442	G	A	BTBD3	c.494G>A	NM_014962.4	NP_055777.1:p.(Arg165His)	NC_000020.10:g.11900442G>A	(Likely) benign	1 lab	82a133602e
7:100283024 GIGYF1 A>C	7	100283024	100283024	A	C	GIGYF1	c.1135T>G	NM_001375765.1	NP_001362694.1:p.(Trp379Gly)	NC_000007.13:g.100283024A>C	VUS	1 lab	82a23bded1
M:8010 MISSING T>C	M	8010		T	C	MISSING				NC_012920.1:m.8010T>C	VUS	1 lab	82a34699de
18:2750117 SMCHD1 C>T	18	2750117	2750117	C	T	SMCHD1	c.4004C>T	NM_015295.3	NP_056110.2:p.(Pro1335Leu)	NC_000018.9:g.2750117C>T	VUS	1 lab	82a3be1daf
11:61070945 DDB1 G>C	11	61070945	61070945	G	C	DDB1	c.2833-318C>G	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61070945G>C	(Likely) benign	1 lab	82a3df11a9
12:57577981 LRP1 G>A	12	57577981	57577981	G	A	LRP1	c.6043G>A	NM_002332.3	NP_002323.2:p.(Val2015Ile)	NC_000012.11:g.57577981G>A	VUS	1 lab	82a4155275
9:71395240 PIP5K1B GAGGCGCCGAGCGCC>G	9	71395240	71395259	GAGGCGCCGAGCGCC	G	PIP5K1B	c.-86+37673_-86+37686del	NM_003558.4	NP_003549.1:p.?	NC_000009.11:g.71395246_71395259del	VUS	1 lab	82a4cb70fc
6:52884145 CILK1 C>T	6	52884145	52884145	C	T	CILK1	c.371G>A	NM_014920.5	NP_055735.1:p.(Arg124Gln)	NC_000006.11:g.52884145C>T	VUS	1 lab	82a57069ae
19:111404 OR4F17 G>C	19	111404	111404	G	C	OR4F17	c.726G>C	NM_001005240.3	NP_001005240.1:p.(Leu242Phe)	NC_000019.9:g.111404G>C	(Likely) benign	1 lab	82a581b9e4
15:78786329 IREB2 T>A	15	78786329	78786329	T	A	IREB2	c.2403T>A	NM_004136.4	NP_004127.2:p.(Asn801Lys)	NC_000015.9:g.78786329T>A	VUS	1 lab	82a67cb3d2
X:100104820 NOX1 T>C	X	100104820	100104820	T	C	NOX1	c.1237A>G	NM_007052.5	NP_008983.2:p.(Ile413Val)	NC_000023.10:g.100104820T>C	(Likely) benign	1 lab	82a8a8db14
1:147096468 BCL9 A>G	1	147096468	147096468	A	G	BCL9	c.3989A>G	NM_004326.4	NP_004317.2:p.(His1330Arg)	NC_000001.10:g.147096468A>G	VUS	1 lab	82aafc9f3e
2:129026004 HS6ST1 C>T	2	129026004	129026004	C	T	HS6ST1	c.968G>A	NM_004807.3	NP_004798.3:p.(Arg323Gln)	NC_000002.11:g.129026004C>T	VUS	1 lab	82ab162908
9:75309630 TMC1 C>A	9	75309630	75309630	C	A	TMC1	c.236C>A	NM_138691.3	NP_619636.2:p.(Ala79Glu)	NC_000009.11:g.75309630C>A	VUS	1 lab	82acee78e5
1:225495179 DNAH14 G>A	1	225495179	225495179	G	A	DNAH14	c.9022G>A	NM_001367479.1	NP_001354408.1:p.(Gly3008Ser)	NC_000001.10:g.225495179G>A	VUS	1 lab	82adeaddbd
6:41704743 PGC C>T	6	41704743	41704743	C	T	PGC	c.1015-1G>A	NM_002630.4	NP_002621.1:p.?	NC_000006.11:g.41704743C>T	VUS	1 lab	82b0d4d95f
11:61071510 DDB1 G>T	11	61071510	61071510	G	T	DDB1	c.2662-3C>A	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61071510G>T	(Likely) benign	1 lab	82b0ed7b2e
8:116599646 TRPS1 T>C	8	116599646	116599646	T	C	TRPS1	c.2282A>G	NM_014112.5	NP_054831.2:p.(Asn761Ser)	NC_000008.10:g.116599646T>C	(Likely) benign	1 lab	82b2e5eee0
2:238305427 COL6A3 C>T	2	238305427	238305427	C	T	COL6A3	c.34G>A	NM_004369.4	NP_004360.2:p.(Val12Ile)	NC_000002.11:g.238305427C>T	(Likely) benign	1 lab	82b69ed2a2
7:117149183 CFTR T>C	7	117149183	117149183	T	C	CFTR	c.260T>C	NM_000492.4	NP_000483.3:p.(Phe87Ser)	NC_000007.13:g.117149183T>C	VUS	1 lab	82b78e29c8
21:38877607 DYRK1A C>T	21	38877607	38877607	C	T	DYRK1A	c.1234C>T	NM_001347721.2	NP_001334650.1:p.(Arg412Cys)	NC_000021.8:g.38877607C>T	VUS	1 lab	82b7938564
3:157823586 SHOX2 T>TCCTCCGCCTCCTCCGCCGCCG	3	157823586	157823636	T	TCCTCCGCCTCCTCCGCCGCCG	SHOX2	c.207_227dup	NM_001163678.2	NP_001157150.1:p.(Gly71_Gly77dup)	NC_000003.11:g.157823616_157823636dup	(Likely) benign	1 lab	82b8a0fa70
19:17678332 COLGALT1 T>C	19	17678332	17678332	T	C	COLGALT1	c.607T>C	NM_024656.4	NP_078932.2:p.(Cys203Arg)	NC_000019.9:g.17678332T>C	VUS	1 lab	82b8adcc3f
17:43515229 PLEKHM1 C>T	17	43515229	43515229	C	T	PLEKHM1	c.3166G>A	NM_014798.3	NP_055613.1:p.(Ala1056Thr)	NC_000017.10:g.43515229C>T	(Likely) benign	1 lab	82ba270368
12:11214264 TAS2R46 C>G	12	11214264	11214264	C	G	TAS2R46	c.630G>C	NM_176887.2	NP_795368.2:p.(Gln210His)	NC_000012.11:g.11214264C>G	(Likely) benign	1 lab	82bc14e843
13:100888097 PCCA A>T	13	100888097	100888097	A	T	PCCA	c.602A>T	NM_000282.4	NP_000273.2:p.(Asp201Val)	NC_000013.10:g.100888097A>T	VUS	1 lab	82bd60a358
3:183273288 KLHL6 C>A	3	183273288	183273288	C	A	KLHL6	c.154G>T	NM_130446.4	NP_569713.2:p.(Ala52Ser)	NC_000003.11:g.183273288C>A	VUS	1 lab	82bdb01295
15:65321951 MTFMT T>C	15	65321951	65321951	T	C	MTFMT	c.1A>G	NM_139242.4	NP_640335.2:p.(Met1?)	NC_000015.9:g.65321951T>C	VUS	1 lab	82bfe2e8d9
2:152350703 NEB ACT>A	2	152350703	152350709	ACT	A	NEB	c.24549_24550del	NM_001164508.2	NP_001157980.2:p.(Arg8183SerfsTer9)	NC_000002.11:g.152350708_152350709del	(Likely) pathogenic	1 lab	82c023f239
4:87622802 PTPN13 G>C	4	87622802	87622802	G	C	PTPN13	c.1043G>C	NM_080683.3	NP_542414.1:p.(Ser348Thr)	NC_000004.11:g.87622802G>C	(Likely) benign	1 lab	82c04a3ac3
22:29121334 CHEK2 C>A	22	29121334	29121334	C	A	CHEK2	c.341G>T	NM_007194.4	NP_009125.1:p.(Trp114Leu)	NC_000022.10:g.29121334C>A	VUS	1 lab	82c063d237
5:38530704 LIFR C>T	5	38530704	38530704	C	T	LIFR	c.46G>A	NM_001127671.2	NP_001121143.1:p.(Asp16Asn)	NC_000005.9:g.38530704C>T	(Likely) benign	1 lab	82c1f06450
1:16358348 CLCNKA T>C	1	16358348	16358348	T	C	CLCNKA	c.1756+10T>C	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16358348T>C	(Likely) benign	1 lab	82c3e9e2bc
8:6338387 MCPH1 C>T	8	6338387	6338387	C	T	MCPH1	c.2126C>T	NM_024596.5	NP_078872.3:p.(Ser709Phe)	NC_000008.10:g.6338387C>T	VUS	1 lab	82c52bf6fc
10:106401475 SORCS3 G>T	10	106401475	106401475	G	T	SORCS3	c.390G>T	NM_014978.3	NP_055793.1:p.(Arg130Ser)	NC_000010.10:g.106401475G>T	(Likely) benign	1 lab	82c5492c38
8:494718 TDRP G>T	8	494718	494718	G	T	TDRP	c.40C>A	NM_001384899.1	NP_001371828.1:p.(Pro14Thr)	NC_000008.10:g.494718G>T	VUS	1 lab	82c5a8f4f4
15:51868380 DMXL2 T>TAAAAA	15	51868380	51868400	T	TAAAAA	DMXL2	c.88-7_88-3dup	NM_001378457.1	NP_001365386.1:p.?	NC_000015.9:g.51868396_51868400dup	VUS	1 lab	82c64a3cea
19:39002984 RYR1 G>T	19	39002984	39002984	G	T	RYR1	c.9333G>T	NM_000540.3	NP_000531.2:p.(Arg3111=)	NC_000019.9:g.39002984G>T	(Likely) benign	1 lab	82c8777d22
17:41256100 BRCA1 AAAG>A	17	41256100	41256123	AAAG	A	BRCA1	c.441+36_441+38del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256121_41256123del	(Likely) benign	1 lab	25c25d71df
6:100061731 PRDM13 GCGCCCCGCCCGCAGCCGC>G	6	100061731	100061752	GCGCCCCGCCCGCAGCCGC	G	PRDM13	c.1224_1241del	NM_021620.4	NP_067633.2:p.(Pro409_Ala414del)	NC_000006.11:g.100061735_100061752del	VUS	1 lab	82c9bc9ce4
15:89382028 ACAN C>A	15	89382028	89382028	C	A	ACAN	c.205C>A	NM_001369268.1	NP_001356197.1:p.(Leu69Met)	NC_000015.9:g.89382028C>A	VUS	1 lab	82c9ec2f7a
8:21976782 HR G>A	8	21976782	21976782	G	A	HR	c.2992C>T	NM_005144.5	NP_005135.2:p.(Arg998Trp)	NC_000008.10:g.21976782G>A	VUS	1 lab	82ca3bd6a5
2:108477252 RGPD4 C>T	2	108477252	108477252	C	T	RGPD4	c.1789C>T	NM_182588.3	NP_872394.2:p.(Arg597Ter)	NC_000002.11:g.108477252C>T	VUS	1 lab	82cc84be50
16:29842230 MVP G>A	16	29842230	29842230	G	A	MVP	c.157G>A	NM_005115.5	NP_005106.2:p.(Val53Ile)	NC_000016.9:g.29842230G>A	VUS	1 lab	82cd318108
10:89487142 PAPSS2 C>T	10	89487142	89487142	C	T	PAPSS2	c.982C>T	NM_001015880.2	NP_001015880.1:p.(Arg328Trp)	NC_000010.10:g.89487142C>T	(Likely) benign	1 lab	82cdecf16d
20:23614570 CST3 T>C	20	23614570	23614570	T	C	CST3	c.424A>G	NM_000099.4	NP_000090.1:p.(Thr142Ala)	NC_000020.10:g.23614570T>C	(Likely) benign	1 lab	82ce26a393
20:49509536 ADNP C>T	20	49509536	49509536	C	T	ADNP	c.1715G>A	NM_001282531.3	NP_001269460.1:p.(Arg572Lys)	NC_000020.10:g.49509536C>T	(Likely) benign	1 lab	82cf89627d
17:57760266 CLTC A>G	17	57760266	57760266	A	G	CLTC	c.3766-2A>G	NM_004859.4	NP_004850.1:p.?	NC_000017.10:g.57760266A>G	(Likely) pathogenic	1 lab	82d081786c
7:105148577 PUS7 C>G	7	105148577	105148577	C	G	PUS7	c.383G>C	NM_019042.5	NP_061915.2:p.(Gly128Ala)	NC_000007.13:g.105148577C>G	VUS	1 lab	82d1a06ff7
3:184584697 VPS8 A>G	3	184584697	184584697	A	G	VPS8	c.1429A>G	NM_001009921.3	NP_001009921.1:p.(Ile477Val)	NC_000003.11:g.184584697A>G	(Likely) benign	1 lab	82d2be5557
6:118887335 CEP85L C>G	6	118887335	118887335	C	G	CEP85L	c.377G>C	NM_001042475.3	NP_001035940.1:p.(Ser126Thr)	NC_000006.11:g.118887335C>G	(Likely) benign	1 lab	82d4f2c9bd
15:85197498 WDR73 G>A	15	85197498	85197498	G	A	WDR73	c.8C>T	NM_032856.5	NP_116245.2:p.(Pro3Leu)	NC_000015.9:g.85197498G>A	VUS	1 lab	82d6f6fff0
2:42580482 COX7A2L C>T	2	42580482	42580482	C	T	COX7A2L	c.74G>A	NM_004718.4	NP_004709.2:p.(Gly25Glu)	NC_000002.11:g.42580482C>T	VUS	1 lab	82d71f68ac
20:62698315 TCEA2 G>A	20	62698315	62698315	G	A	TCEA2	c.183G>A	NM_003195.6	NP_003186.1:p.(Ser61=)	NC_000020.10:g.62698315G>A	VUS	1 lab	82d8b087ab
X:15841117 ZRSR2 C>T	X	15841117	15841117	C	T	ZRSR2	c.1201C>T	NM_005089.4	NP_005080.1:p.(Arg401Cys)	NC_000023.10:g.15841117C>T	(Likely) benign	1 lab	82d8b88367
4:995921 IDUA A>G	4	995921	995921	A	G	IDUA	c.944A>G	NM_000203.5	NP_000194.2:p.(Asp315Gly)	NC_000004.11:g.995921A>G	VUS	1 lab	82d933ed21
13:23911375 SACS G>A	13	23911375	23911375	G	A	SACS	c.6640C>T	NM_014363.6	NP_055178.3:p.(Arg2214Cys)	NC_000013.10:g.23911375G>A	VUS	1 lab	82db777c42
19:35523366 SCN1B T>TG	19	35523366	35523367	T	TG	SCN1B	c.41-65dup	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35523367dup	(Likely) benign	1 lab	25c833a02c
20:47864101 ZNFX1 A>G	20	47864101	47864101	A	G	ZNFX1	c.5460T>C	NM_021035.3	NP_066363.1:p.(Leu1820=)	NC_000020.10:g.47864101A>G	(Likely) benign	1 lab	25caf00894
X:31747750 DMD C>T	X	31747750	31747750	C	T	DMD	c.7658G>A	NM_004006.3	NP_003997.2:p.(Arg2553Gln)	NC_000023.10:g.31747750C>T	(Likely) benign	1 lab	82dd663d6b
X:151869683 MAGEA3 C>T	X	151869683	151869683	C	T	MAGEA3	c.373C>T	NM_005362.4	NP_005353.1:p.(Arg125Ter)	NC_000023.10:g.151869683C>T	VUS	1 lab	82ddf2c2bb
11:107396214 ALKBH8 C>T	11	107396214	107396214	C	T	ALKBH8	c.983G>A	NM_138775.3	NP_620130.2:p.(Arg328Gln)	NC_000011.9:g.107396214C>T	VUS	1 lab	82de6151f6
18:52928698 TCF4 G>A	18	52928698	52928698	G	A	TCF4	c.989C>T	NM_001083962.2	NP_001077431.1:p.(Ser330Leu)	NC_000018.9:g.52928698G>A	VUS	1 lab	82dea4b20b
16:89712440 CHMP1A C>T	16	89712440	89712440	C	T	CHMP1A	c.*34G>A	NM_002768.5	NP_002759.2:p.?	NC_000016.9:g.89712440C>T	VUS	1 lab	82dec82cce
15:22833630 TUBGCP5 A>C	15	22833630	22833630	A	C	TUBGCP5	c.106A>C	NM_052903.6	NP_443135.3:p.(Asn36His)	NC_000015.9:g.22833630A>C	VUS	1 lab	82e176e733
4:5800442 EVC G>A	4	5800442	5800442	G	A	EVC	c.2227G>A	NM_153717.3	NP_714928.1:p.(Ala743Thr)	NC_000004.11:g.5800442G>A	VUS	1 lab	82e29f8b69
10:76924403 SAMD8 C>T	10	76924403	76924403	C	T	SAMD8	c.579C>T	NM_001174156.2	NP_001167627.1:p.(Ser193=)	NC_000010.10:g.76924403C>T	VUS	1 lab	82e2d029ea
16:777591 HAGHL G>C	16	777591	777591	G	C	HAGHL	c.82G>C	NM_032304.4	NP_115680.1:p.(Val28Leu)	NC_000016.9:g.777591G>C	(Likely) benign	1 lab	82e3418d23
16:1608018 IFT140 G>A	16	1608018	1608018	G	A	IFT140	c.2317C>T	NM_014714.4	NP_055529.2:p.(Arg773Trp)	NC_000016.9:g.1608018G>A	VUS	1 lab	82e50b6b47
15:63594660 APH1B G>T	15	63594660	63594660	G	T	APH1B	c.595G>T	NM_031301.4	NP_112591.2:p.(Val199Leu)	NC_000015.9:g.63594660G>T	(Likely) benign	1 lab	82e5f91c19
22:21348565 LZTR1 C>G	22	21348565	21348565	C	G	LZTR1	c.1615+7C>G	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21348565C>G	(Likely) benign	1 lab	82e64530ef
19:16986892 SIN3B C>T	19	16986892	16986892	C	T	SIN3B	c.2619C>T	NM_001297595.2	NP_001284524.1:p.(Val873=)	NC_000019.9:g.16986892C>T	VUS	1 lab	82e64a867e
X:82763987 POU3F4 C>T	X	82763987	82763987	C	T	POU3F4	c.655C>T	NM_000307.5	NP_000298.3:p.(Leu219=)	NC_000023.10:g.82763987C>T	(Likely) benign	1 lab	82e6508629
13:42295559 VWA8 T>G	13	42295559	42295559	T	G	VWA8	c.2911A>C	NM_015058.2	NP_055873.1:p.(Ile971Leu)	NC_000013.10:g.42295559T>G	VUS	1 lab	82e6688b5e
17:66551849 FAM20A G>A	17	66551849	66551849	G	A	FAM20A	c.440C>T	NM_017565.4	NP_060035.2:p.(Thr147Ile)	NC_000017.10:g.66551849G>A	VUS	1 lab	82e715d369
11:67812542 TCIRG1 G>A	11	67812542	67812542	G	A	TCIRG1	c.1138G>A	NM_006019.4	NP_006010.2:p.(Val380Met)	NC_000011.9:g.67812542G>A	(Likely) benign	1 lab	82e77ec846
2:97867970 ANKRD36 A>C	2	97867970	97867970	A	C	ANKRD36	c.2886+3A>C	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97867970A>C	VUS	1 lab	82ebc26723
5:132537644 FSTL4 G>A	5	132537644	132537644	G	A	FSTL4	c.1807C>T	NM_015082.2	NP_055897.1:p.(Leu603Phe)	NC_000005.9:g.132537644G>A	VUS	1 lab	82ebc3120a
19:11107183 SMARCA4 C>T	19	11107183	11107183	C	T	SMARCA4	c.1775C>T	NM_003072.5	NP_003063.2:p.(Ala592Val)	NC_000019.9:g.11107183C>T	(Likely) benign	1 lab	82eeafd05b
4:3076603 HTT C>CCAGCAGCAGCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAGCAGCAGCAG	HTT	c.93_110dup	NM_001388492.1	NP_001375421.1:p.(Gln33_Gln38dup)	NC_000004.11:g.3076645_3076662dup	(Likely) benign	1 lab	82eecd81f3
10:293416 ZMYND11 C>G	10	293416	293416	C	G	ZMYND11	c.1227+10C>G	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.293416C>G	(Likely) benign	1 lab	82ef0a8cc4
4:94690584 GRID2 C>T	4	94690584	94690584	C	T	GRID2	c.2584C>T	NM_001510.4	NP_001501.2:p.(Arg862Trp)	NC_000004.11:g.94690584C>T	(Likely) benign	1 lab	82fa008c36
1:211654689 RD3 C>G	1	211654689	211654689	C	G	RD3	c.69G>C	NM_001164688.2	NP_001158160.1:p.(Glu23Asp)	NC_000001.10:g.211654689C>G	VUS	1 lab	8317677e53
15:89402354 ACAN GAGGCACC>G	15	89402354	89402365	GAGGCACC	G	ACAN	c.6543_6549del	NM_001369268.1	NP_001356197.1:p.(Pro2182CysfsTer51)	NC_000015.9:g.89402359_89402365del	(Likely) pathogenic	1 lab	82ef84c755
3:111263424 CD96 A>T	3	111263424	111263424	A	T	CD96	c.62-469A>T	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111263424A>T	(Likely) benign	1 lab	82ef84e693
12:57594568 LRP1 T>A	12	57594568	57594568	T	A	LRP1	c.10195T>A	NM_002332.3	NP_002323.2:p.(Cys3399Ser)	NC_000012.11:g.57594568T>A	VUS	1 lab	82f0755534
2:46386784 PRKCE G>A	2	46386784	46386784	G	A	PRKCE	c.1960G>A	NM_005400.3	NP_005391.1:p.(Ala654Thr)	NC_000002.11:g.46386784G>A	(Likely) benign	1 lab	82f0a50546
1:44605885 KLF18 C>CCCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	1	44605885	44605911	C	CCCACAGAGGGTCTGGTTACTAGTGGGGGTCGTCATCTGCTCT	KLF18	c.1418_1419insAGAGCAGATGACGACCCCCACTAGTAACCAGACCCTCTGTGG	NM_001358438.1	NP_001345367.1:p.(Gln475_Val476insMetThrThrProThrSerAsnGlnThrLeuCysGlyGluGln)	NC_000001.10:g.44605910_44605911insGGGTCGTCATCTGCTCTCCACAGAGGGTCTGGTTACTAGTGG	VUS	1 lab	82f186097c
22:46125377 ATXN10 G>A	22	46125377	46125377	G	A	ATXN10	c.801G>A	NM_013236.4	NP_037368.1:p.(Val267=)	NC_000022.10:g.46125377G>A	(Likely) benign	1 lab	82f20a8859
2:179571268 TTN C>T	2	179571268	179571268	C	T	TTN	c.29333G>A	NM_001267550.2	NP_001254479.2:p.(Gly9778Asp)	NC_000002.11:g.179571268C>T	VUS	1 lab	82f3e81d5c
16:2150268 PKD1 T>C	16	2150268	2150268	T	C	PKD1	c.9611A>G	NM_001009944.3	NP_001009944.3:p.(Asp3204Gly)	NC_000016.9:g.2150268T>C	VUS	1 lab	82f45c1d96
5:149361274 SLC26A2 CCTT>C	5	149361274	149361279	CCTT	C	SLC26A2	c.2121_2123del	NM_000112.4	NP_000103.2:p.(Leu708del)	NC_000005.9:g.149361277_149361279del	VUS	1 lab	82f4cea113
1:155500680 ASH1L G>C	1	155500680	155500680	G	C	ASH1L	c.-99-9271C>G	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155500680G>C	(Likely) benign	1 lab	82f5123674
22:51043137 MAPK8IP2 G>GGAGGACGAA	22	51043137	51043154	G	GGAGGACGAA	MAPK8IP2	c.1419_1427dup	NM_012324.6	NP_036456.1:p.(Glu473_Asp475dup)	NC_000022.10:g.51043146_51043154dup	VUS	1 lab	82f5c79b1a
X:23397691 PTCHD1 AT>A	X	23397691	23397698	AT	A	PTCHD1	c.352-10del	NM_173495.3	NP_775766.2:p.?	NC_000023.10:g.23397698del	(Likely) benign	1 lab	82f5ddf9e3
11:134244923 GLB1L2 C>A	11	134244923	134244923	C	A	GLB1L2	c.1882C>A	NM_001370461.1	NP_001357390.1:p.(His628Asn)	NC_000011.9:g.134244923C>A	(Likely) benign	1 lab	82f740783d
2:165997493 SCN3A G>A	2	165997493	165997493	G	A	SCN3A	c.1687C>T	NM_006922.4	NP_008853.3:p.(Arg563Cys)	NC_000002.11:g.165997493G>A	(Likely) benign	1 lab	82f7998b70
1:248814054 OR2T27 G>GA	1	248814054	248814055	G	GA	OR2T27	c.131dup	NM_001001824.2	NP_001001824.1:p.(Lys45GlnfsTer67)	NC_000001.10:g.248814055dup	VUS	1 lab	82fa18da92
19:2877320 ZNF556 C>T	19	2877320	2877320	C	T	ZNF556	c.364C>T	NM_024967.3	NP_079243.1:p.(Arg122Cys)	NC_000019.9:g.2877320C>T	(Likely) benign	1 lab	82fcd657b7
19:15302831 NOTCH3 G>A	19	15302831	15302831	G	A	NOTCH3	c.619C>T	NM_000435.3	NP_000426.2:p.(Arg207Cys)	NC_000019.9:g.15302831G>A	(Likely) pathogenic	1 lab	82fd263aa4
16:72821593 ZFHX3 A>AGCCGCCGCC	16	72821593	72821617	A	AGCCGCCGCC	ZFHX3	c.10573_10581dup	NM_006885.4	NP_008816.3:p.(Gly3525_Gly3527dup)	NC_000016.9:g.72821609_72821617dup	VUS	1 lab	82fe488953
X:48814486 OTUD5 G>A	X	48814486	48814486	G	A	OTUD5	c.347C>T	NM_001136157.2	NP_001129629.1:p.(Ala116Val)	NC_000023.10:g.48814486G>A	VUS	1 lab	82fe6c0053
5:140768227 PCDHGB4 C>A	5	140768227	140768227	C	A	PCDHGB4	c.776C>A	NM_003736.4	NP_003727.1:p.(Thr259Asn)	NC_000005.9:g.140768227C>A	VUS	1 lab	830031ca01
1:25679393 TMEM50A G>A	1	25679393	25679393	G	A	TMEM50A	c.295G>A	NM_014313.4	NP_055128.1:p.(Val99Ile)	NC_000001.10:g.25679393G>A	(Likely) benign	1 lab	8300dea03d
13:108861878 LIG4 C>T	13	108861878	108861878	C	T	LIG4	c.1739G>A	NM_206937.2	NP_996820.1:p.(Arg580Gln)	NC_000013.10:g.108861878C>T	VUS	1 lab	8301702628
16:81888199 PLCG2 G>T	16	81888199	81888199	G	T	PLCG2	c.337+7G>T	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81888199G>T	(Likely) benign	1 lab	8301758355
3:47882509 DHX30 C>G	3	47882509	47882509	C	G	DHX30	c.509C>G	NM_138615.3	NP_619520.1:p.(Pro170Arg)	NC_000003.11:g.47882509C>G	(Likely) benign	1 lab	830200d2fb
3:47163343 SETD2 G>C	3	47163343	47163343	G	C	SETD2	c.2783C>G	NM_014159.7	NP_054878.5:p.(Thr928Arg)	NC_000003.11:g.47163343G>C	(Likely) benign	1 lab	8302047d8f
16:88871230 CDT1 C>T	16	88871230	88871230	C	T	CDT1	c.412C>T	NM_030928.4	NP_112190.2:p.(Arg138Trp)	NC_000016.9:g.88871230C>T	VUS	1 lab	8302c2f0d9
16:31501730 SLC5A2 G>GGAGGCA	16	31501730	31501737	G	GGAGGCA	SLC5A2	c.1895_1900dup	NM_003041.4	NP_003032.1:p.(Glu632_Ala633dup)	NC_000016.9:g.31501732_31501737dup	VUS	1 lab	8303a9fbb0
22:29091199 CHEK2 T>C	22	29091199	29091199	T	C	CHEK2	c.1291A>G	NM_007194.4	NP_009125.1:p.(Arg431Gly)	NC_000022.10:g.29091199T>C	VUS	1 lab	8303d8d757
22:38379536 SOX10 T>C	22	38379536	38379536	T	C	SOX10	c.256A>G	NM_006941.4	NP_008872.1:p.(Thr86Ala)	NC_000022.10:g.38379536T>C	VUS	1 lab	83041df3d9
1:214557166 PTPN14 C>T	1	214557166	214557166	C	T	PTPN14	c.2032G>A	NM_005401.5	NP_005392.2:p.(Glu678Lys)	NC_000001.10:g.214557166C>T	(Likely) benign	1 lab	830736218e
22:35802547 MCM5 C>T	22	35802547	35802547	C	T	MCM5	c.425C>T	NM_006739.4	NP_006730.2:p.(Ser142Leu)	NC_000022.10:g.35802547C>T	VUS	1 lab	83075a09bf
2:225400244 CUL3 C>T	2	225400244	225400244	C	T	CUL3	c.378+1G>A	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225400244C>T	VUS	1 lab	83098298e8
6:43012613 CUL7 C>T	6	43012613	43012613	C	T	CUL7	c.3049G>A	NM_014780.5	NP_055595.2:p.(Ala1017Thr)	NC_000006.11:g.43012613C>T	(Likely) benign	1 lab	830aa9281c
14:31542106 AP4S1 T>G	14	31542106	31542106	T	G	AP4S1	c.226-5T>G	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31542106T>G	(Likely) benign	1 lab	830b51508a
11:35276309 SLC1A2 G>A	11	35276309	35276309	G	A	SLC1A2	c.*6132C>T	NM_004171.4	NP_004162.2:p.?	NC_000011.9:g.35276309G>A	(Likely) benign	1 lab	830cf6a90f
20:61512036 DIDO1 G>A	20	61512036	61512036	G	A	DIDO1	c.5272C>T	NM_001193369.2	NP_001180298.1:p.(Pro1758Ser)	NC_000020.10:g.61512036G>A	(Likely) benign	1 lab	830db5e013
8:93107578 RUNX1T1 C>A	8	93107578	93107578	C	A	RUNX1T1	c.-86+7507G>T	NM_175634.3	NP_783552.1:p.?	NC_000008.10:g.93107578C>A	VUS	1 lab	830e17fef0
2:220423172 OBSL1 T>A	2	220423172	220423172	T	A	OBSL1	c.3236A>T	NM_015311.3	NP_056126.1:p.(Glu1079Val)	NC_000002.11:g.220423172T>A	VUS	1 lab	831103e42c
16:2160371 PKD1 G>T	16	2160371	2160371	G	T	PKD1	c.4797C>A	NM_001009944.3	NP_001009944.3:p.(Tyr1599Ter)	NC_000016.9:g.2160371G>T	(Likely) pathogenic	1 lab	83112e5568
X:77301888 ATP7A G>A	X	77301888	77301888	G	A	ATP7A	c.4324G>A	NM_000052.7	NP_000043.4:p.(Asp1442Asn)	NC_000023.10:g.77301888G>A	(Likely) benign	1 lab	83122d0427
12:132633323 NOC4L G>A	12	132633323	132633323	G	A	NOC4L	c.790-6G>A	NM_024078.3	NP_076983.1:p.?	NC_000012.11:g.132633323G>A	(Likely) benign	1 lab	8313145c18
9:463535 DOCK8 G>C	9	463535	463535	G	C	DOCK8	c.6087G>C	NM_203447.4	NP_982272.2:p.(Glu2029Asp)	NC_000009.11:g.463535G>C	VUS	1 lab	831407f219
2:212566818 ERBB4 C>T	2	212566818	212566818	C	T	ERBB4	c.1363G>A	NM_005235.3	NP_005226.1:p.(Ala455Thr)	NC_000002.11:g.212566818C>T	VUS	1 lab	8315040054
3:58087983 FLNB G>A	3	58087983	58087983	G	A	FLNB	c.1399G>A	NM_001457.4	NP_001448.2:p.(Val467Ile)	NC_000003.11:g.58087983G>A	(Likely) benign	1 lab	83163acd33
X:46480492 SLC9A7 G>A	X	46480492	46480492	G	A	SLC9A7	c.1743C>T	NM_001257291.2	NP_001244220.1:p.(Asp581=)	NC_000023.10:g.46480492G>A	VUS	1 lab	8319157125
2:166904174 SCN1A A>G	2	166904174	166904174	A	G	SCN1A	c.1133T>C	NM_001165963.3	NP_001159435.1:p.(Leu378Pro)	NC_000002.11:g.166904174A>G	(Likely) pathogenic	1 lab	25d46cd416
10:69902773 MYPN A>AC	10	69902773	69902775	A	AC	MYPN	c.99dup	NM_001256268.2	NP_001243197.1:p.(Ile34HisfsTer6)	NC_000010.10:g.69902775dup	(Likely) pathogenic	1 lab	245d43ccbc
4:55593590 KIT G>A	4	55593590	55593590	G	A	KIT	c.1656G>A	NM_000222.3	NP_000213.1:p.(Met552Ile)	NC_000004.11:g.55593590G>A	VUS	1 lab	831c408906
16:72991696 ZFHX3 T>TGCC	16	72991696	72991710	T	TGCC	ZFHX3	c.2346_2348dup	NM_006885.4	NP_008816.3:p.(Ala784dup)	NC_000016.9:g.72991708_72991710dup	VUS	1 lab	831c748846
22:18897756 DGCR6 C>G	22	18897756	18897756	C	G	DGCR6	c.343C>G	NM_005675.6	NP_005666.2:p.(Leu115Val)	NC_000022.10:g.18897756C>G	(Likely) benign	1 lab	831f13e839
8:11606569 GATA4 C>T	8	11606569	11606569	C	T	GATA4	c.761C>T	NM_001308093.3	NP_001295022.1:p.(Pro254Leu)	NC_000008.10:g.11606569C>T	VUS	1 lab	831fb54cfe
4:5758049 EVC A>G	4	5758049	5758049	A	G	EVC	c.1523A>G	NM_153717.3	NP_714928.1:p.(Glu508Gly)	NC_000004.11:g.5758049A>G	VUS	1 lab	8320ae7be4
18:34833901 CELF4 C>T	18	34833901	34833901	C	T	CELF4	c.1334G>A	NM_020180.4	NP_064565.1:p.(Gly445Asp)	NC_000018.9:g.34833901C>T	VUS	1 lab	8321352c47
8:145730704 GPT C>T	8	145730704	145730704	C	T	GPT	c.571C>T	NM_005309.3	NP_005300.1:p.(Leu191Phe)	NC_000008.10:g.145730704C>T	VUS	1 lab	832147e7b0
11:75694430 UVRAG GA>G	11	75694430	75694440	GA	G	UVRAG	c.709del	NM_003369.4	NP_003360.2:p.(Ser237ValfsTer6)	NC_000011.9:g.75694440del	VUS	1 lab	832273c3bb
14:102384290 PPP2R5C AGTGCACC>A	14	102384290	102384298	AGTGCACC	A	PPP2R5C	c.1608+8_1608+14del	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102384292_102384298del	(Likely) benign	1 lab	8327e97974
1:15831201 CASP9 A>G	1	15831201	15831201	A	G	CASP9	c.773T>C	NM_001229.5	NP_001220.2:p.(Val258Ala)	NC_000001.10:g.15831201A>G	VUS	1 lab	83409c2de4
3:136323243 STAG1 G>A	3	136323243	136323243	G	A	STAG1	c.205C>T	NM_005862.3	NP_005853.2:p.(Arg69Cys)	NC_000003.11:g.136323243G>A	(Likely) benign	1 lab	832ddb910e
5:78135219 ARSB C>CAGCTCA	5	78135219	78135226	C	CAGCTCA	ARSB	c.1167_1172dup	NM_000046.5	NP_000037.2:p.(Glu390_Leu391dup)	NC_000005.9:g.78135221_78135226dup	VUS	1 lab	832de553bd
8:41790648 KAT6A T>G	8	41790648	41790648	T	G	KAT6A	c.5090A>C	NM_006766.5	NP_006757.2:p.(Gln1697Pro)	NC_000008.10:g.41790648T>G	(Likely) benign	1 lab	832e19b8f6
X:77298250 ATP7A T>A	X	77298250	77298250	T	A	ATP7A	c.3969T>A	NM_000052.7	NP_000043.4:p.(Asp1323Glu)	NC_000023.10:g.77298250T>A	VUS	1 lab	8331fe5e84
6:129722453 LAMA2 C>T	6	129722453	129722453	C	T	LAMA2	c.5530C>T	NM_000426.4	NP_000417.3:p.(Arg1844Cys)	NC_000006.11:g.129722453C>T	VUS	1 lab	83325dc8d1
22:41924031 POLR3H G>C	22	41924031	41924031	G	C	POLR3H	c.*1256C>G	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41924031G>C	VUS	1 lab	83337cdceb
5:31799740 PDZD2 C>T	5	31799740	31799740	C	T	PDZD2	c.385C>T	NM_178140.4	NP_835260.2:p.(Pro129Ser)	NC_000005.9:g.31799740C>T	VUS	1 lab	8335e9ef6f
17:8141912 CTC1 C>T	17	8141912	8141912	C	T	CTC1	c.233G>A	NM_025099.6	NP_079375.3:p.(Arg78His)	NC_000017.10:g.8141912C>T	(Likely) benign	1 lab	25d57c83d2
11:2154293 IGF2 C>T	11	2154293	2154293	C	T	IGF2	c.467G>A	NM_000612.6	NP_000603.1:p.(Arg156His)	NC_000011.9:g.2154293C>T	(Likely) benign	1 lab	8337efa502
15:101791384 CHSY1 G>C	15	101791384	101791384	G	C	CHSY1	c.278C>G	NM_014918.5	NP_055733.2:p.(Thr93Ser)	NC_000015.9:g.101791384G>C	VUS	1 lab	245e2b3dde
15:45694815 AFG2B C>T	15	45694815	45694815	C	T	AFG2B	c.188C>T	NM_024063.3	NP_076968.2:p.(Pro63Leu)	NC_000015.9:g.45694815C>T	VUS	1 lab	833a06457f
17:79805115 P4HB G>A	17	79805115	79805115	G	A	P4HB	c.729+4C>T	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79805115G>A	(Likely) benign	1 lab	833b621b36
7:2565898 LFNG C>T	7	2565898	2565898	C	T	LFNG	c.842C>T	NM_001040167.2	NP_001035257.1:p.(Thr281Met)	NC_000007.13:g.2565898C>T	(Likely) pathogenic	1 lab	833c270e8d
2:152534545 NEB T>C	2	152534545	152534545	T	C	NEB	c.3412A>G	NM_001164508.2	NP_001157980.2:p.(Asn1138Asp)	NC_000002.11:g.152534545T>C	(Likely) benign	1 lab	833d39b48b
13:95034770 GPC6 G>A	13	95034770	95034770	G	A	GPC6	c.1255G>A	NM_005708.5	NP_005699.1:p.(Glu419Lys)	NC_000013.10:g.95034770G>A	VUS	1 lab	833e52e921
14:105415768 AHNAK2 A>G	14	105415768	105415768	A	G	AHNAK2	c.6020T>C	NM_138420.4	NP_612429.2:p.(Ile2007Thr)	NC_000014.8:g.105415768A>G	VUS	1 lab	833e590fbb
X:149680315 MAMLD1 G>T	X	149680315	149680315	G	T	MAMLD1	c.*86G>T	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680315G>T	(Likely) benign	1 lab	83414c0385
2:74327994 TET3 C>T	2	74327994	74327994	C	T	TET3	c.4079C>T	NM_001287491.2	NP_001274420.1:p.(Ala1360Val)	NC_000002.11:g.74327994C>T	VUS	1 lab	8343a1f361
12:116429692 MED13L T>C	12	116429692	116429692	T	C	MED13L	c.3067A>G	NM_015335.5	NP_056150.1:p.(Thr1023Ala)	NC_000012.11:g.116429692T>C	(Likely) benign	1 lab	83444bddb7
19:6850762 VAV1 G>C	19	6850762	6850762	G	C	VAV1	c.2211G>C	NM_005428.4	NP_005419.2:p.(Gly737=)	NC_000019.9:g.6850762G>C	(Likely) benign	1 lab	25d6cab366
X:107978731 IRS4 T>C	X	107978731	107978731	T	C	IRS4	c.844A>G	NM_001379150.1	NP_001366079.1:p.(Ile282Val)	NC_000023.10:g.107978731T>C	(Likely) benign	1 lab	8346c65edf
5:126113357 LMNB1 C>T	5	126113357	126113357	C	T	LMNB1	c.157C>T	NM_005573.4	NP_005564.1:p.(Leu53=)	NC_000005.9:g.126113357C>T	(Likely) benign	1 lab	8346f48be1
13:32907429 BRCA2 T>C	13	32907429	32907429	T	C	BRCA2	c.1814T>C	NM_000059.4	NP_000050.3:p.(Ile605Thr)	NC_000013.10:g.32907429T>C	(Likely) benign	1 lab	834784814e
1:1452646 ATAD3A G>A	1	1452646	1452646	G	A	ATAD3A	c.283-45G>A	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1452646G>A	(Likely) benign	1 lab	8347af4fef
1:47069894 MKNK1 C>G	1	47069894	47069894	C	G	MKNK1	c.-208G>C	NM_001135553.4	NP_001129025.2:p.?	NC_000001.10:g.47069894C>G	(Likely) benign	1 lab	834885cf64
1:156107547 LMNA C>A	1	156107547	156107547	C	A	LMNA	c.1698+13C>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156107547C>A	VUS	1 lab	834ab1e1d2
16:88729429 MVD G>A	16	88729429	88729429	G	A	MVD	c.60C>T	NM_002461.3	NP_002452.1:p.(Val20=)	NC_000016.9:g.88729429G>A	(Likely) benign	1 lab	834c49b156
X:41205844 DDX3X T>C	X	41205844	41205844	T	C	DDX3X	c.1584T>C	NM_001356.5	NP_001347.3:p.(Arg528=)	NC_000023.10:g.41205844T>C	(Likely) benign	1 lab	834cabe812
21:35247758 ITSN1 G>A	21	35247758	35247758	G	A	ITSN1	c.4274G>A	NM_003024.3	NP_003015.2:p.(Arg1425Gln)	NC_000021.8:g.35247758G>A	VUS	1 lab	834d546e15
19:40978644 SPTBN4 C>T	19	40978644	40978644	C	T	SPTBN4	c.116C>T	NM_020971.3	NP_066022.2:p.(Ala39Val)	NC_000019.9:g.40978644C>T	(Likely) benign	1 lab	834d8d4fc3
10:43623647 RET A>G	10	43623647	43623647	A	G	RET	c.3275A>G	NM_020975.6	NP_066124.1:p.(Asn1092Ser)	NC_000010.10:g.43623647A>G	VUS	1 lab	834e0c3eaf
1:155319168 ASH1L T>A	1	155319168	155319168	T	A	ASH1L	c.7504A>T	NM_018489.3	NP_060959.2:p.(Thr2502Ser)	NC_000001.10:g.155319168T>A	VUS	1 lab	834ed6d1d8
13:32907165 BRCA2 A>G	13	32907165	32907165	A	G	BRCA2	c.1550A>G	NM_000059.4	NP_000050.3:p.(Asn517Ser)	NC_000013.10:g.32907165A>G	VUS	1 lab	834f836edc
4:5617199 EVC2 C>G	4	5617199	5617199	C	G	EVC2	c.2779G>C	NM_147127.5	NP_667338.3:p.(Asp927His)	NC_000004.11:g.5617199C>G	VUS	1 lab	834fe9f470
15:75699427 SIN3A CCAT>C	15	75699427	75699430	CCAT	C	SIN3A	c.1373_1375del	NM_001145358.2	NP_001138830.1:p.(His458_Gly459delinsArg)	NC_000015.9:g.75699428_75699430del	VUS	1 lab	83503f3389
2:74273782 TET3 C>A	2	74273782	74273782	C	A	TET3	c.738C>A	NM_001287491.2	NP_001274420.1:p.(Cys246Ter)	NC_000002.11:g.74273782C>A	VUS	1 lab	83513401ee
7:100644127 MUC12 C>T	7	100644127	100644127	C	T	MUC12	c.10283C>T	NM_001164462.2	NP_001157934.1:p.(Thr3428Ile)	NC_000007.13:g.100644127C>T	(Likely) benign	1 lab	835279178b
11:66003381 PACS1 C>G	11	66003381	66003381	C	G	PACS1	c.2220C>G	NM_018026.4	NP_060496.2:p.(Asp740Glu)	NC_000011.9:g.66003381C>G	VUS	1 lab	8352ecf1f3
5:37184983 CPLANE1 G>A	5	37184983	37184983	G	A	CPLANE1	c.4388C>T	NM_001384732.1	NP_001371661.1:p.(Thr1463Ile)	NC_000005.9:g.37184983G>A	VUS	1 lab	8353cd216e
12:116421120 MED13L G>A	12	116421120	116421120	G	A	MED13L	c.4757C>T	NM_015335.5	NP_056150.1:p.(Pro1586Leu)	NC_000012.11:g.116421120G>A	VUS	1 lab	8354145ecb
6:132859705 TAAR9 T>TA	6	132859705	132859706	T	TA	TAAR9	c.277_278insA	NM_175057.4	NP_778227.3:p.(Ser93TyrfsTer14)	NC_000006.11:g.132859705_132859706insA	VUS	1 lab	8355a17d1a
4:158065115 GLRB A>G	4	158065115	158065115	A	G	GLRB	c.904+4A>G	NM_000824.5	NP_000815.1:p.?	NC_000004.11:g.158065115A>G	(Likely) benign	1 lab	8355a6c9ad
15:63927048 HERC1 C>G	15	63927048	63927048	C	G	HERC1	c.12454G>C	NM_003922.4	NP_003913.3:p.(Asp4152His)	NC_000015.9:g.63927048C>G	VUS	1 lab	837188e8f5
1:224581527 WDR26 T>C	1	224581527	224581527	T	C	WDR26	c.2260+3A>G	NM_001379403.1	NP_001366332.1:p.?	NC_000001.10:g.224581527T>C	(Likely) pathogenic	1 lab	8356433da0
22:38696905 CSNK1E T>G	22	38696905	38696905	T	G	CSNK1E	c.389A>C	NM_152221.3	NP_689407.1:p.(Lys130Thr)	NC_000022.10:g.38696905T>G	VUS	1 lab	8356461260
2:110927414 NPHP1 G>T	2	110927414	110927414	G	T	NPHP1	c.491C>A	NM_001128178.3	NP_001121650.1:p.(Thr164Asn)	NC_000002.11:g.110927414G>T	VUS	1 lab	8358cb4add
2:75113496 HK2 C>T	2	75113496	75113496	C	T	HK2	c.2011C>T	NM_000189.5	NP_000180.2:p.(His671Tyr)	NC_000002.11:g.75113496C>T	(Likely) benign	1 lab	835a787030
11:112104210 PTS G>T	11	112104210	112104210	G	T	PTS	c.370G>T	NM_000317.3	NP_000308.1:p.(Val124Leu)	NC_000011.9:g.112104210G>T	(Likely) pathogenic	1 lab	835ce5c5b6
1:35496146 ZMYM6 A>C	1	35496146	35496146	A	C	ZMYM6	c.93+2T>G	NM_007167.4	NP_009098.3:p.?	NC_000001.10:g.35496146A>C	VUS	1 lab	835dd69e6b
21:46875802 COL18A1 G>A	21	46875802	46875802	G	A	COL18A1	c.107-12354G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875802G>A	(Likely) benign	1 lab	835f5fcfe1
7:34086005 BMPER C>T	7	34086005	34086005	C	T	BMPER	c.664C>T	NM_001365308.1	NP_001352237.1:p.(Pro222Ser)	NC_000007.13:g.34086005C>T	VUS	1 lab	836108210c
1:161188502 FCER1G G>A	1	161188502	161188502	G	A	FCER1G	c.187G>A	NM_004106.2	NP_004097.1:p.(Gly63Ser)	NC_000001.10:g.161188502G>A	(Likely) benign	1 lab	8361e0fe79
15:49048641 CEP152 T>C	15	49048641	49048641	T	C	CEP152	c.2804A>G	NM_001194998.2	NP_001181927.1:p.(Gln935Arg)	NC_000015.9:g.49048641T>C	(Likely) benign	1 lab	836223bf4d
1:27023041 ARID1A A>C	1	27023041	27023041	A	C	ARID1A	c.147A>C	NM_006015.6	NP_006006.3:p.(Glu49Asp)	NC_000001.10:g.27023041A>C	VUS	1 lab	83625cfe18
X:9863006 SHROOM2 C>T	X	9863006	9863006	C	T	SHROOM2	c.1058C>T	NM_001649.4	NP_001640.1:p.(Ala353Val)	NC_000023.10:g.9863006C>T	(Likely) benign	1 lab	836346f192
5:74715237 CERT1 T>C	5	74715237	74715237	T	C	CERT1	c.992A>G	NM_001130105.1	NP_001123577.1:p.(Asp331Gly)	NC_000005.9:g.74715237T>C	VUS	1 lab	24625d5e8c
12:112926847 PTPN11 C>T	12	112926847	112926847	C	T	PTPN11	c.1467C>T	NM_002834.5	NP_002825.3:p.(Asp489=)	NC_000012.11:g.112926847C>T	(Likely) benign	1 lab	8366e23b4e
16:90099336 DRC4 G>T	16	90099336	90099336	G	T	DRC4	c.495+4G>T	NM_001481.3	NP_001472.1:p.?	NC_000016.9:g.90099336G>T	VUS	1 lab	83670e04e8
5:42719210 GHR A>G	5	42719210	42719210	A	G	GHR	c.1601A>G	NM_000163.5	NP_000154.1:p.(Tyr534Cys)	NC_000005.9:g.42719210A>G	VUS	1 lab	8369e913dd
1:220275475 IARS2 A>T	1	220275475	220275475	A	T	IARS2	c.555A>T	NM_018060.4	NP_060530.3:p.(Arg185Ser)	NC_000001.10:g.220275475A>T	VUS	1 lab	836a3ff729
14:77492844 IRF2BPL T>A	14	77492844	77492844	T	A	IRF2BPL	c.1292A>T	NM_024496.4	NP_078772.1:p.(Tyr431Phe)	NC_000014.8:g.77492844T>A	(Likely) benign	1 lab	836b1a5287
13:28494486 PDX1 C>A	13	28494486	28494486	C	A	PDX1	c.211C>A	NM_000209.4	NP_000200.1:p.(Pro71Thr)	NC_000013.10:g.28494486C>A	(Likely) benign	1 lab	836bd79dee
18:10714829 PIEZO2 C>T	18	10714829	10714829	C	T	PIEZO2	c.5356G>A	NM_001378183.1	NP_001365112.1:p.(Gly1786Arg)	NC_000018.9:g.10714829C>T	(Likely) benign	1 lab	836c13529a
2:238249391 COL6A3 A>G	2	238249391	238249391	A	G	COL6A3	c.8168T>C	NM_004369.4	NP_004360.2:p.(Ile2723Thr)	NC_000002.11:g.238249391A>G	VUS	1 lab	836ccc1f84
11:92085835 FAT3 A>G	11	92085835	92085835	A	G	FAT3	c.557A>G	NM_001367949.2	NP_001354878.1:p.(Asp186Gly)	NC_000011.9:g.92085835A>G	VUS	1 lab	836cd4e307
X:69772000 TEX11 A>C	X	69772000	69772000	A	C	TEX11	c.2496T>G	NM_031276.3	NP_112566.2:p.(Asp832Glu)	NC_000023.10:g.69772000A>C	(Likely) benign	1 lab	836f95989a
15:89876722 POLGARF G>C	15	89876722	89876722	G	C	POLGARF	c.319C>G	NM_001430120.1	NP_001417049.1:p.(Arg107Gly)	NC_000015.9:g.89876722G>C	VUS	1 lab	836fd7d652
12:32755195 FGD4 G>A	12	32755195	32755195	G	A	FGD4	c.1348G>A	NM_001370298.3	NP_001357227.2:p.(Val450Ile)	NC_000012.11:g.32755195G>A	VUS	1 lab	8370404031
10:21177143 NEBL GA>G	10	21177143	21177152	GA	G	NEBL	c.259-8del	NM_006393.3	NP_006384.1:p.?	NC_000010.10:g.21177152del	(Likely) benign	1 lab	25d8dd10ac
19:54649668 CNOT3 C>A	19	54649668	54649668	C	A	CNOT3	c.726C>A	NM_014516.4	NP_055331.1:p.(Ser242=)	NC_000019.9:g.54649668C>A	(Likely) benign	1 lab	2462aabf42
X:153670474 GDI1 G>A	X	153670474	153670474	G	A	GDI1	c.1008G>A	NM_001493.3	NP_001484.1:p.(Met336Ile)	NC_000023.10:g.153670474G>A	VUS	1 lab	8373ad5f06
15:42160786 SPTBN5 G>A	15	42160786	42160786	G	A	SPTBN5	c.5867C>T	NM_016642.4	NP_057726.4:p.(Ala1956Val)	NC_000015.9:g.42160786G>A	(Likely) benign	1 lab	83741d0e4a
16:1816552 MAPK8IP3 A>G	16	1816552	1816552	A	G	MAPK8IP3	c.2842A>G	NM_001318852.2	NP_001305781.1:p.(Ser948Gly)	NC_000016.9:g.1816552A>G	(Likely) benign	1 lab	837445dae8
2:1895823 MYT1L G>C	2	1895823	1895823	G	C	MYT1L	c.2269C>G	NM_001303052.2	NP_001289981.1:p.(Leu757Val)	NC_000002.11:g.1895823G>C	VUS	1 lab	83746e852d
10:88476151 LDB3 T>C	10	88476151	88476151	T	C	LDB3	c.1299T>C	NM_007078.3	NP_009009.1:p.(Pro433=)	NC_000010.10:g.88476151T>C	(Likely) benign	1 lab	8375f2e431
2:179546095 TTN T>C	2	179546095	179546095	T	C	TTN	c.33247+8A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179546095T>C	VUS	1 lab	8376dce39c
6:90392892 MDN1 C>T	6	90392892	90392892	C	T	MDN1	c.12061G>A	NM_014611.3	NP_055426.1:p.(Ala4021Thr)	NC_000006.11:g.90392892C>T	(Likely) benign	1 lab	837793b805
6:116446586 COL10A1 G>A	6	116446586	116446586	G	A	COL10A1	c.70C>T	NM_000493.4	NP_000484.2:p.(Arg24Ter)	NC_000006.11:g.116446586G>A	VUS	1 lab	837843467e
16:28601471 SGF29 G>GC	16	28601471	28601472	G	GC	SGF29	c.345dup	NM_138414.3	NP_612423.1:p.(Arg116GlnfsTer24)	NC_000016.9:g.28601472dup	VUS	1 lab	837b91d439
2:69330024 ANTXR1 G>A	2	69330024	69330024	G	A	ANTXR1	c.754G>A	NM_032208.3	NP_115584.1:p.(Val252Met)	NC_000002.11:g.69330024G>A	VUS	1 lab	837cf5de18
17:79234047 SLC38A10 G>A	17	79234047	79234047	G	A	SLC38A10	c.1279C>T	NM_001037984.3	NP_001033073.1:p.(Arg427Trp)	NC_000017.10:g.79234047G>A	VUS	1 lab	837d449b31
17:71197985 COG1 ACTC>A	17	71197985	71197992	ACTC	A	COG1	c.2024_2026del	NM_018714.3	NP_061184.1:p.(Leu675del)	NC_000017.10:g.71197990_71197992del	VUS	1 lab	837f3e75b8
5:1801533 NDUFS6 T>G	5	1801533	1801533	T	G	NDUFS6	c.2T>G	NM_004553.6	NP_004544.1:p.(Met1?)	NC_000005.9:g.1801533T>G	VUS	1 lab	83802c0164
2:160019901 TANC1 C>T	2	160019901	160019901	C	T	TANC1	c.790C>T	NM_033394.3	NP_203752.2:p.(Arg264Cys)	NC_000002.11:g.160019901C>T	(Likely) benign	1 lab	838120bcaa
X:102003996 GPRASP3 G>A	X	102003996	102003996	G	A	GPRASP3	c.73G>A	NM_001142524.2	NP_001135996.1:p.(Gly25Arg)	NC_000023.10:g.102003996G>A	VUS	1 lab	8382b3bfb3
16:2546443 TBC1D24 C>A	16	2546443	2546443	C	A	TBC1D24	c.294C>A	NM_001199107.2	NP_001186036.1:p.(Asn98Lys)	NC_000016.9:g.2546443C>A	VUS	1 lab	8383032978
6:142758581 ADGRG6 A>G	6	142758581	142758581	A	G	ADGRG6	c.3330A>G	NM_198569.3	NP_940971.2:p.(Ile1110Met)	NC_000006.11:g.142758581A>G	VUS	1 lab	83838d9f17
8:6302295 MCPH1 G>T	8	6302295	6302295	G	T	MCPH1	c.1052G>T	NM_024596.5	NP_078872.3:p.(Ser351Ile)	NC_000008.10:g.6302295G>T	(Likely) benign	1 lab	838412934b
1:158596524 SPTA1 A>G	1	158596524	158596524	A	G	SPTA1	c.5833+105T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158596524A>G	(Likely) benign	1 lab	25dc116fe1
2:179466439 TTN T>C	2	179466439	179466439	T	C	TTN	c.55378A>G	NM_001267550.2	NP_001254479.2:p.(Thr18460Ala)	NC_000002.11:g.179466439T>C	VUS	1 lab	8388746d4e
4:151408909 LRBA T>C	4	151408909	151408909	T	C	LRBA	c.6526A>G	NM_001364905.1	NP_001351834.1:p.(Thr2176Ala)	NC_000004.11:g.151408909T>C	(Likely) benign	1 lab	8388940703
5:14751210 ANKH T>C	5	14751210	14751210	T	C	ANKH	c.655A>G	NM_054027.6	NP_473368.1:p.(Ile219Val)	NC_000005.9:g.14751210T>C	VUS	1 lab	838a02a980
2:38298098 CYP1B1 T>G	2	38298098	38298098	T	G	CYP1B1	c.1399A>C	NM_000104.4	NP_000095.2:p.(Lys467Gln)	NC_000002.11:g.38298098T>G	VUS	1 lab	838ab0c0d2
6:33263192 RGL2 C>T	6	33263192	33263192	C	T	RGL2	c.1028G>A	NM_004761.5	NP_004752.1:p.(Arg343Gln)	NC_000006.11:g.33263192C>T	(Likely) benign	1 lab	838ab2489b
14:91804903 CCDC88C G>A	14	91804903	91804903	G	A	CCDC88C	c.821C>T	NM_001080414.4	NP_001073883.2:p.(Thr274Ile)	NC_000014.8:g.91804903G>A	VUS	1 lab	838b52edad
3:4725441 ITPR1 A>G	3	4725441	4725441	A	G	ITPR1	c.3457A>G	NM_001378452.1	NP_001365381.1:p.(Met1153Val)	NC_000003.11:g.4725441A>G	VUS	1 lab	838bbd5eb3
7:151329231 PRKAG2 G>GGGA	7	151329231	151329243	G	GGGA	PRKAG2	c.685-10_685-8dup	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151329241_151329243dup	(Likely) benign	1 lab	838e274a9f
14:30396700 PRKD1 G>C	14	30396700	30396700	G	C	PRKD1	c.19C>G	NM_002742.3	NP_002733.2:p.(Leu7Val)	NC_000014.8:g.30396700G>C	(Likely) benign	1 lab	838e932904
6:35216354 SCUBE3 T>A	6	35216354	35216354	T	A	SCUBE3	c.2854T>A	NM_152753.4	NP_689966.2:p.(Phe952Ile)	NC_000006.11:g.35216354T>A	VUS	1 lab	838fc9dc76
5:37173898 CPLANE1 C>T	5	37173898	37173898	C	T	CPLANE1	c.6130G>A	NM_001384732.1	NP_001371661.1:p.(Val2044Ile)	NC_000005.9:g.37173898C>T	VUS	1 lab	8390aa5f40
11:2189156 TH G>A	11	2189156	2189156	G	A	TH	c.584C>T	NM_000360.4	NP_000351.2:p.(Ser195Leu)	NC_000011.9:g.2189156G>A	VUS	1 lab	8390b23b9b
1:156100485 LMNA A>G	1	156100485	156100485	A	G	LMNA	c.434A>G	NM_170707.4	NP_733821.1:p.(Glu145Gly)	NC_000001.10:g.156100485A>G	VUS	1 lab	8390f36812
2:238277794 COL6A3 C>T	2	238277794	238277794	C	T	COL6A3	c.4312G>A	NM_004369.4	NP_004360.2:p.(Val1438Ile)	NC_000002.11:g.238277794C>T	(Likely) benign	1 lab	83911fc819
X:41055914 USP9X G>A	X	41055914	41055914	G	A	USP9X	c.4156G>A	NM_001039591.3	NP_001034680.2:p.(Ala1386Thr)	NC_000023.10:g.41055914G>A	VUS	1 lab	83912e1827
1:152284735 FLG G>A	1	152284735	152284735	G	A	FLG	c.2627C>T	NM_002016.2	NP_002007.1:p.(Ser876Phe)	NC_000001.10:g.152284735G>A	(Likely) benign	1 lab	8392a92c6d
2:219254677 SLC11A1 G>A	2	219254677	219254677	G	A	SLC11A1	c.880G>A	NM_000578.4	NP_000569.3:p.(Val294Ile)	NC_000002.11:g.219254677G>A	(Likely) benign	1 lab	83935246d4
17:44249479 KANSL1 C>T	17	44249479	44249479	C	T	KANSL1	c.31G>A	NM_015443.4	NP_056258.1:p.(Ala11Thr)	NC_000017.10:g.44249479C>T	VUS	1 lab	83949db8ed
1:100696385 DBT G>A	1	100696385	100696385	G	A	DBT	c.337C>T	NM_001918.5	NP_001909.4:p.(Arg113Cys)	NC_000001.10:g.100696385G>A	VUS	1 lab	8394acff92
3:9984830 CRELD1 A>C	3	9984830	9984830	A	C	CRELD1	c.887A>C	NM_001077415.3	NP_001070883.2:p.(Tyr296Ser)	NC_000003.11:g.9984830A>C	VUS	1 lab	8394b20aef
3:38616894 SCN5A G>T	3	38616894	38616894	G	T	SCN5A	c.3557C>A	NM_000335.5	NP_000326.2:p.(Pro1186Gln)	NC_000003.11:g.38616894G>T	VUS	1 lab	839ff7aff9
5:138729726 PROB1 TCTC>T	5	138729726	138729732	TCTC	T	PROB1	c.1042_1044del	NM_001161546.2	NP_001155018.1:p.(Glu348del)	NC_000005.9:g.138729730_138729732del	(Likely) benign	1 lab	83950b44d5
9:21385151 IFNA2 C>A	9	21385151	21385151	C	A	IFNA2	c.178G>T	NM_000605.4	NP_000596.2:p.(Gly60Ter)	NC_000009.11:g.21385151C>A	VUS	1 lab	8398b33df1
16:19710923 VPS35L C>G	16	19710923	19710923	C	G	VPS35L	c.2746C>G	NM_020314.7	NP_064710.5:p.(Leu916Val)	NC_000016.9:g.19710923C>G	VUS	1 lab	8398da5278
16:70843810 HYDIN T>G	16	70843810	70843810	T	G	HYDIN	c.14759A>C	NM_001270974.2	NP_001257903.1:p.(Tyr4920Ser)	NC_000016.9:g.70843810T>G	(Likely) benign	1 lab	839a26abc9
20:60581557 TAF4 C>A	20	60581557	60581557	C	A	TAF4	c.2223+9G>T	NM_003185.4	NP_003176.2:p.?	NC_000020.10:g.60581557C>A	(Likely) benign	1 lab	839ac2dde7
2:87214083 RGPD1 C>T	2	87214083	87214083	C	T	RGPD1	c.4061C>T	NM_001382344.1	NP_001369273.1:p.(Ala1354Val)	NC_000002.11:g.87214083C>T	VUS	1 lab	839b0938e7
5:127668612 FBN2 T>A	5	127668612	127668612	T	A	FBN2	c.4214A>T	NM_001999.4	NP_001990.2:p.(Lys1405Met)	NC_000005.9:g.127668612T>A	VUS	1 lab	839bd68bc3
12:109535631 UNG G>C	12	109535631	109535631	G	C	UNG				NC_000012.11:g.109535631G>C	(Likely) benign	1 lab	25dec1778f
12:4639034 FERRY3 CCT>C	12	4639034	4639041	CCT	C	FERRY3	c.505_506del	NM_020374.4	NP_065107.1:p.(Arg169ThrfsTer4)	NC_000012.11:g.4639040_4639041del	(Likely) pathogenic	1 lab	839cd53b51
9:135277330 TTF1 C>T	9	135277330	135277330	C	T	TTF1	c.879G>A	NM_007344.4	NP_031370.2:p.(Met293Ile)	NC_000009.11:g.135277330C>T	(Likely) benign	1 lab	839d6d044a
16:50830376 CYLD A>ATATG	16	50830376	50830381	A	ATATG	CYLD	c.2830_2833dup	NM_001378743.1	NP_001365672.1:p.(Cys945TyrfsTer52)	NC_000016.9:g.50830378_50830381dup	(Likely) pathogenic	1 lab	839dbb89cf
11:17569716 OTOG C>T	11	17569716	17569716	C	T	OTOG	c.173C>T	NM_001292063.2	NP_001278992.1:p.(Ala58Val)	NC_000011.9:g.17569716C>T	VUS	1 lab	839e9beadc
16:30721000 SRCAP G>T	16	30721000	30721000	G	T	SRCAP	c.800G>T	NM_006662.3	NP_006653.2:p.(Gly267Val)	NC_000016.9:g.30721000G>T	(Likely) benign	1 lab	839f4089e1
9:101552710 ANKS6 G>A	9	101552710	101552710	G	A	ANKS6	c.538C>T	NM_173551.5	NP_775822.3:p.(Leu180=)	NC_000009.11:g.101552710G>A	(Likely) benign	1 lab	37199c8e0f
17:41234414 BRCA1 T>C	17	41234414	41234414	T	C	BRCA1	c.4357+7A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41234414T>C	(Likely) benign	1 lab	83a387bbd4
14:50616781 SOS2 G>A	14	50616781	50616781	G	A	SOS2	c.2329C>T	NM_006939.4	NP_008870.2:p.(Leu777Phe)	NC_000014.8:g.50616781G>A	VUS	1 lab	83a3f2489f
7:100279858 GIGYF1 A>G	7	100279858	100279858	A	G	GIGYF1	c.2762T>C	NM_001375765.1	NP_001362694.1:p.(Val921Ala)	NC_000007.13:g.100279858A>G	(Likely) benign	1 lab	83a65cd8c6
3:142279158 ATR GACA>G	3	142279158	142279164	GACA	G	ATR	c.1485_1487del	NM_001184.4	NP_001175.2:p.(Val496del)	NC_000003.11:g.142279162_142279164del	VUS	1 lab	83a830e724
12:56090984 ITGA7 G>C	12	56090984	56090984	G	C	ITGA7	c.1567+16C>G	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56090984G>C	(Likely) benign	1 lab	83a9b2643e
9:86615956 RMI1 C>T	9	86615956	86615956	C	T	RMI1	c.55C>T	NM_001358291.2	NP_001345220.1:p.(His19Tyr)	NC_000009.11:g.86615956C>T	(Likely) benign	1 lab	83a9fe7494
19:7598417 MCOLN1 C>T	19	7598417	7598417	C	T	MCOLN1	c.1584C>T	NM_020533.3	NP_065394.1:p.(Gly528=)	NC_000019.9:g.7598417C>T	(Likely) benign	1 lab	83acde65c8
8:90965863 NBN G>A	8	90965863	90965863	G	A	NBN	c.1454C>T	NM_002485.5	NP_002476.2:p.(Thr485Met)	NC_000008.10:g.90965863G>A	(Likely) benign	1 lab	83ae53124e
22:29747228 AP1B1 T>C	22	29747228	29747228	T	C	AP1B1	c.1087A>G	NM_001127.4	NP_001118.3:p.(Thr363Ala)	NC_000022.10:g.29747228T>C	VUS	1 lab	83aebdc9c3
21:47412654 COL6A1 C>T	21	47412654	47412654	C	T	COL6A1	c.1273-8C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47412654C>T	(Likely) benign	1 lab	83b31c1c1a
4:1906100 NSD2 T>A	4	1906100	1906100	T	A	NSD2	c.755T>A	NM_001042424.3	NP_001035889.1:p.(Leu252His)	NC_000004.11:g.1906100T>A	VUS	1 lab	844ac21070
5:112175432 APC C>T	5	112175432	112175432	C	T	APC	c.4141C>T	NM_000038.6	NP_000029.2:p.(Pro1381Ser)	NC_000005.9:g.112175432C>T	VUS	1 lab	246d48e7d4
12:110252459 TRPV4 G>A	12	110252459	110252459	G	A	TRPV4	c.143C>T	NM_021625.5	NP_067638.3:p.(Ser48Leu)	NC_000012.11:g.110252459G>A	(Likely) benign	1 lab	83b441ee67
X:47836782 ZNF182 T>G	X	47836782	47836782	T	G	ZNF182	c.647A>C	NM_001007088.2	NP_001007089.1:p.(Glu216Ala)	NC_000023.10:g.47836782T>G	(Likely) benign	1 lab	83b6b6f5cc
17:7120475 DLG4 G>A	17	7120475	7120475	G	A	DLG4	c.-9C>T	NM_001321075.3	NP_001308004.1:p.?	NC_000017.10:g.7120475G>A	VUS	1 lab	83ca196890
1:200528567 KIF14 T>A	1	200528567	200528567	T	A	KIF14	c.4244A>T	NM_014875.3	NP_055690.1:p.(Asp1415Val)	NC_000001.10:g.200528567T>A	(Likely) benign	1 lab	83b91aa177
X:76814246 ATRX A>G	X	76814246	76814246	A	G	ATRX	c.6398T>C	NM_000489.6	NP_000480.3:p.(Ile2133Thr)	NC_000023.10:g.76814246A>G	(Likely) pathogenic	1 lab	2473936bef
12:113285571 RPH3A G>A	12	113285571	113285571	G	A	RPH3A	c.154G>A	NM_001143854.2	NP_001137326.1:p.(Asp52Asn)	NC_000012.11:g.113285571G>A	VUS	1 lab	83bbd4a018
7:40037094 CDK13 T>C	7	40037094	40037094	T	C	CDK13	c.1873T>C	NM_003718.5	NP_003709.3:p.(Leu625=)	NC_000007.13:g.40037094T>C	VUS	1 lab	83bd4ab665
17:76988785 CANT1 G>A	17	76988785	76988785	G	A	CANT1	c.*847C>T	NM_138793.4	NP_620148.1:p.?	NC_000017.10:g.76988785G>A	(Likely) benign	1 lab	2474b983fe
2:172195875 METTL8 G>A	2	172195875	172195875	G	A	METTL8	c.425C>T	NM_001321154.2	NP_001308083.1:p.(Ser142Leu)	NC_000002.11:g.172195875G>A	(Likely) benign	1 lab	83bf37052a
6:80837305 BCKDHB G>A	6	80837305	80837305	G	A	BCKDHB	c.238G>A	NM_183050.4	NP_898871.1:p.(Ala80Thr)	NC_000006.11:g.80837305G>A	VUS	1 lab	83c08253f8
3:69168747 LMOD3 A>G	3	69168747	69168747	A	G	LMOD3	c.759T>C	NM_198271.5	NP_938012.2:p.(Pro253=)	NC_000003.11:g.69168747A>G	(Likely) benign	1 lab	83c1e530af
5:180057702 FLT4 C>G	5	180057702	180057702	C	G	FLT4	c.253G>C	NM_182925.5	NP_891555.2:p.(Glu85Gln)	NC_000005.9:g.180057702C>G	VUS	1 lab	83c4831c0e
12:88582622 TMTC3 G>A	12	88582622	88582622	G	A	TMTC3	c.1435G>A	NM_181783.4	NP_861448.2:p.(Asp479Asn)	NC_000012.11:g.88582622G>A	VUS	1 lab	83c52440a7
X:129150144 BCORL1 C>G	X	129150144	129150144	C	G	BCORL1	c.3396C>G	NM_001379451.1	NP_001366380.1:p.(Leu1132=)	NC_000023.10:g.129150144C>G	(Likely) benign	1 lab	83c774cfb2
6:70978523 COL9A1 C>G	6	70978523	70978523	C	G	COL9A1	c.1271G>C	NM_001851.6	NP_001842.3:p.(Gly424Ala)	NC_000006.11:g.70978523C>G	VUS	1 lab	83c815e0c7
17:1638857 WDR81 C>G	17	1638857	1638857	C	G	WDR81	c.5180-9C>G	NM_001163809.2	NP_001157281.1:p.?	NC_000017.10:g.1638857C>G	(Likely) benign	1 lab	83c8aff1a4
11:118499077 PHLDB1 G>A	11	118499077	118499077	G	A	PHLDB1	c.1538G>A	NM_001144758.3	NP_001138230.1:p.(Gly513Asp)	NC_000011.9:g.118499077G>A	(Likely) benign	1 lab	83c95294f8
19:49488840 GYS1 CCT>C	19	49488840	49488842	CCT	C	GYS1	c.699_700del	NM_002103.5	NP_002094.2:p.(Arg236AlafsTer56)	NC_000019.9:g.49488841_49488842del	(Likely) pathogenic	1 lab	24778fa394
3:16306272 DPH3 T>A	3	16306272	16306272	T	A	DPH3	c.108+4A>T	NM_206831.3	NP_996662.1:p.?	NC_000003.11:g.16306272T>A	(Likely) benign	1 lab	83ccb910c4
2:9580804 CPSF3 T>C	2	9580804	9580804	T	C	CPSF3	c.936+9T>C	NM_016207.4	NP_057291.1:p.?	NC_000002.11:g.9580804T>C	(Likely) benign	1 lab	83cce7aab7
1:103440436 COL11A1 G>A	1	103440436	103440436	G	A	COL11A1	c.2758C>T	NM_001854.4	NP_001845.3:p.(Pro920Ser)	NC_000001.10:g.103440436G>A	VUS	1 lab	83cd63f164
1:205131251 DSTYK G>A	1	205131251	205131251	G	A	DSTYK	c.1731C>T	NM_015375.3	NP_056190.1:p.(Ser577=)	NC_000001.10:g.205131251G>A	(Likely) benign	1 lab	25e37f4cf6
X:69649569 GDPD2 T>G	X	69649569	69649569	T	G	GDPD2	c.1158+5T>G	NM_017711.4	NP_060181.2:p.?	NC_000023.10:g.69649569T>G	(Likely) benign	1 lab	83d2dba90a
1:231672970 TSNAX G>A	1	231672970	231672970	G	A	TSNAX	c.133G>A	NM_005999.3	NP_005990.1:p.(Glu45Lys)	NC_000001.10:g.231672970G>A	VUS	1 lab	83d339b842
15:43658424 ZSCAN29 T>G	15	43658424	43658424	T	G	ZSCAN29	c.1106A>C	NM_001372080.1	NP_001359009.1:p.(His369Pro)	NC_000015.9:g.43658424T>G	VUS	1 lab	83d497d4e9
18:10532790 NAPG G>T	18	10532790	10532790	G	T	NAPG	c.207G>T	NM_003826.3	NP_003817.1:p.(Arg69Ser)	NC_000018.9:g.10532790G>T	VUS	1 lab	83d4e98738
7:65444895 GUSB C>G	7	65444895	65444895	C	G	GUSB	c.400G>C	NM_000181.4	NP_000172.2:p.(Val134Leu)	NC_000007.13:g.65444895C>G	VUS	1 lab	83d5f34774
17:76457643 DNAH17 C>T	17	76457643	76457643	C	T	DNAH17	c.9322G>A	NM_173628.4	NP_775899.3:p.(Val3108Ile)	NC_000017.10:g.76457643C>T	VUS	1 lab	83d801e061
14:100705707 YY1 C>CGAG	14	100705707	100705724	C	CGAG	YY1	c.141_143dup	NM_003403.5	NP_003394.1:p.(Glu47dup)	NC_000014.8:g.100705722_100705724dup	VUS	1 lab	83d80e9d70
2:47630364 MSH2 G>GATCC	2	47630364	47630366	G	GATCC	MSH2	c.35_36insTCCA	NM_000251.3	NP_000242.1:p.(Glu12AspfsTer71)	NC_000002.11:g.47630365_47630366insTCCA	(Likely) pathogenic	1 lab	83d821e4d9
22:46785381 CELSR1 G>A	22	46785381	46785381	G	A	CELSR1	c.6361C>T	NM_001378328.1	NP_001365257.1:p.(Arg2121Cys)	NC_000022.10:g.46785381G>A	VUS	1 lab	83d824877a
3:37050385 MLH1 A>G	3	37050385	37050385	A	G	MLH1	c.534A>G	NM_000249.4	NP_000240.1:p.(Glu178=)	NC_000003.11:g.37050385A>G	(Likely) benign	1 lab	83d90044f1
17:78188911 SGSH G>C	17	78188911	78188911	G	C	SGSH	c.276C>G	NM_000199.5	NP_000190.1:p.(His92Gln)	NC_000017.10:g.78188911G>C	VUS	1 lab	83e4db6da1
22:19511357 CLDN5 T>C	22	19511357	19511357	T	C	CLDN5	c.422A>G	NM_001363066.2	NP_001349995.1:p.(Asn141Ser)	NC_000022.10:g.19511357T>C	VUS	1 lab	83d9360e1b
17:38787071 SMARCE1 C>T	17	38787071	38787071	C	T	SMARCE1	c.922G>A	NM_003079.5	NP_003070.3:p.(Ala308Thr)	NC_000017.10:g.38787071C>T	(Likely) benign	1 lab	83da5139df
19:47883027 DHX34 G>A	19	47883027	47883027	G	A	DHX34	c.2767G>A	NM_014681.6	NP_055496.2:p.(Asp923Asn)	NC_000019.9:g.47883027G>A	VUS	1 lab	83db1caba0
18:42532732 SETBP1 T>C	18	42532732	42532732	T	C	SETBP1	c.3427T>C	NM_015559.3	NP_056374.2:p.(Ser1143Pro)	NC_000018.9:g.42532732T>C	(Likely) benign	1 lab	83dc16f7c3
9:124094809 GSN G>A	9	124094809	124094809	G	A	GSN	c.2124G>A	NM_001353053.1	NP_001339982.1:p.(Trp708Ter)	NC_000009.11:g.124094809G>A	VUS	1 lab	2477b2eb01
7:5428107 TNRC18 T>C	7	5428107	5428107	T	C	TNRC18	c.1348A>G	NM_001080495.3	NP_001073964.2:p.(Thr450Ala)	NC_000007.13:g.5428107T>C	(Likely) benign	1 lab	83dcf2ba5d
2:44531284 SLC3A1 T>G	2	44531284	44531284	T	G	SLC3A1	c.1139T>G	NM_000341.4	NP_000332.2:p.(Phe380Cys)	NC_000002.11:g.44531284T>G	VUS	1 lab	83df144270
4:6064101 JAKMIP1 G>A	4	6064101	6064101	G	A	JAKMIP1	c.1498C>T	NM_001099433.2	NP_001092903.1:p.(Arg500Cys)	NC_000004.11:g.6064101G>A	VUS	1 lab	83df865f28
19:11353731 DOCK6 G>A	19	11353731	11353731	G	A	DOCK6	c.1480+4C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11353731G>A	VUS	1 lab	83e0118efe
3:62522163 CADPS C>T	3	62522163	62522163	C	T	CADPS	c.2060G>A	NM_003716.4	NP_003707.2:p.(Arg687His)	NC_000003.11:g.62522163C>T	VUS	1 lab	83e0dfa430
17:17700955 RAI1 G>A	17	17700955	17700955	G	A	RAI1	c.4693G>A	NM_030665.4	NP_109590.3:p.(Val1565Met)	NC_000017.10:g.17700955G>A	(Likely) benign	1 lab	83e21d22c3
10:123325206 FGFR2 T>G	10	123325206	123325206	T	G	FGFR2	c.122A>C	NM_000141.5	NP_000132.3:p.(Lys41Thr)	NC_000010.10:g.123325206T>G	VUS	1 lab	83e3cde303
1:247267342 ZNF669 G>C	1	247267342	247267342	G	C	ZNF669	c.3+157C>G	NM_001142572.2	NP_001136044.1:p.?	NC_000001.10:g.247267342G>C	(Likely) benign	1 lab	83e42f59c1
11:102986033 DYNC2H1 T>C	11	102986033	102986033	T	C	DYNC2H1	c.621+9T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.102986033T>C	(Likely) benign	1 lab	83e443b0cf
X:135084328 SLC9A6 TGGTGAAA>T	X	135084328	135084336	TGGTGAAA	T	SLC9A6	c.701_707del	NM_001379110.1	NP_001366039.1:p.(Gly234ValfsTer9)	NC_000023.10:g.135084330_135084336del	VUS	1 lab	83e5e7f7dc
16:1245090 CACNA1H GGCGTGGGTCGGGGTGGGGAAGGA>G	16	1245090	1245123	GGCGTGGGTCGGGGTGGGGAAGGA	G	CACNA1H	c.411+18_411+40del	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1245101_1245123del	(Likely) benign	1 lab	83e9b732d0
17:36065037 HNF1B C>A	17	36065037	36065037	C	A	HNF1B	c.1226G>T	NM_000458.4	NP_000449.1:p.(Gly409Val)	NC_000017.10:g.36065037C>A	VUS	1 lab	83ea7fb019
6:1611540 FOXC1 G>A	6	1611540	1611540	G	A	FOXC1	c.860G>A	NM_001453.3	NP_001444.2:p.(Gly287Asp)	NC_000006.11:g.1611540G>A	VUS	1 lab	83eab7d365
13:32910810 BRCA2 C>T	13	32910810	32910810	C	T	BRCA2	c.2318C>T	NM_000059.4	NP_000050.3:p.(Pro773Leu)	NC_000013.10:g.32910810C>T	(Likely) benign	1 lab	83ead84e2d
20:34021820 GDF5 A>G	20	34021820	34021820	A	G	GDF5	c.1393T>C	NM_000557.5	NP_000548.2:p.(Cys465Arg)	NC_000020.10:g.34021820A>G	VUS	1 lab	83eeb838e4
5:11117634 CTNND2 C>G	5	11117634	11117634	C	G	CTNND2	c.2205G>C	NM_001332.4	NP_001323.1:p.(Glu735Asp)	NC_000005.9:g.11117634C>G	VUS	1 lab	83ef151fbe
2:179408735 TTN T>C	2	179408735	179408735	T	C	TTN	c.96136A>G	NM_001267550.2	NP_001254479.2:p.(Ile32046Val)	NC_000002.11:g.179408735T>C	VUS	1 lab	83ef7c7d71
5:140752393 PCDHGA1 C>T	5	140752393	140752393	C	T	PCDHGA1	c.2421+39721C>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140752393C>T	VUS	1 lab	83f112d646
5:140358582 PCDHAC1 G>C	5	140358582	140358582	G	C	PCDHAC1	c.2482G>C	NM_018898.5	NP_061721.2:p.(Gly828Arg)	NC_000005.9:g.140358582G>C	VUS	1 lab	83f112e6ae
21:47746375 PCNT G>C	21	47746375	47746375	G	C	PCNT	c.139G>C	NM_006031.6	NP_006022.3:p.(Asp47His)	NC_000021.8:g.47746375G>C	VUS	1 lab	83f22df435
19:7132257 INSR C>T	19	7132257	7132257	C	T	INSR	c.2754G>A	NM_000208.4	NP_000199.2:p.(Pro918=)	NC_000019.9:g.7132257C>T	(Likely) benign	1 lab	83f450dd02
3:47176451 SETD2 T>C	3	47176451	47176451	T	C	SETD2	c.72-8298A>G	NM_014159.7	NP_054878.5:p.?	NC_000003.11:g.47176451T>C	(Likely) benign	1 lab	83f4515c88
1:154573718 ADAR C>T	1	154573718	154573718	C	T	ADAR	c.515G>A	NM_001193495.2	NP_001180424.1:p.(Arg172His)	NC_000001.10:g.154573718C>T	(Likely) benign	1 lab	247985665c
19:23159357 ZNF728 C>A	19	23159357	23159357	C	A	ZNF728	c.782G>T	NM_001267716.2	NP_001254645.1:p.(Cys261Phe)	NC_000019.9:g.23159357C>A	(Likely) benign	1 lab	83f6fa4b98
1:22405061 CDC42 G>A	1	22405061	22405061	G	A	CDC42	c.90G>A	NM_001791.4	NP_001782.1:p.(Ser30=)	NC_000001.10:g.22405061G>A	VUS	1 lab	83f85948a3
3:138664508 FOXL2 G>T	3	138664508	138664508	G	T	FOXL2	c.1057C>A	NM_023067.4	NP_075555.1:p.(Leu353Ile)	NC_000003.11:g.138664508G>T	(Likely) benign	1 lab	83f95ec8c5
22:37482443 TMPRSS6 G>A	22	37482443	37482443	G	A	TMPRSS6	c.853C>T	NM_001374504.1	NP_001361433.1:p.(Arg285Cys)	NC_000022.10:g.37482443G>A	VUS	1 lab	83face3a42
17:2579853 PAFAH1B1 A>G	17	2579853	2579853	A	G	PAFAH1B1	c.955A>G	NM_000430.4	NP_000421.1:p.(Thr319Ala)	NC_000017.10:g.2579853A>G	VUS	1 lab	83fb8f68c1
9:116152908 ALAD C>T	9	116152908	116152908	C	T	ALAD	c.446G>A	NM_000031.6	NP_000022.3:p.(Arg149Gln)	NC_000009.11:g.116152908C>T	VUS	1 lab	83fd3e21a5
2:44021664 DYNC2LI1 T>C	2	44021664	44021664	T	C	DYNC2LI1	c.389T>C	NM_016008.4	NP_057092.2:p.(Leu130Pro)	NC_000002.11:g.44021664T>C	VUS	1 lab	83fd8f0428
18:2703731 SMCHD1 G>A	18	2703731	2703731	G	A	SMCHD1	c.1689G>A	NM_015295.3	NP_056110.2:p.(Leu563=)	NC_000018.9:g.2703731G>A	(Likely) benign	1 lab	83fe6875ba
19:15272275 NOTCH3 G>C	19	15272275	15272275	G	C	NOTCH3	c.6164C>G	NM_000435.3	NP_000426.2:p.(Ala2055Gly)	NC_000019.9:g.15272275G>C	(Likely) benign	1 lab	83ff9c0b88
3:178916900 PIK3CA A>G	3	178916900	178916900	A	G	PIK3CA	c.287A>G	NM_006218.4	NP_006209.2:p.(Gln96Arg)	NC_000003.11:g.178916900A>G	(Likely) benign	1 lab	83ffd969b0
12:123815920 SBNO1 T>G	12	123815920	123815920	T	G	SBNO1	c.912A>C	NM_001167856.3	NP_001161328.1:p.(Gln304His)	NC_000012.11:g.123815920T>G	VUS	1 lab	84011f244c
18:32409040 DTNA A>G	18	32409040	32409040	A	G	DTNA	c.*5A>G	NM_001392.5	NP_001383.2:p.?	NC_000018.9:g.32409040A>G	VUS	1 lab	247d5577a2
1:228494810 OBSCN G>A	1	228494810	228494810	G	A	OBSCN	c.15006G>A	NM_001386125.1	NP_001373054.1:p.(Ala5002=)	NC_000001.10:g.228494810G>A	(Likely) benign	1 lab	8402046919
16:29810616 KIF22 G>A	16	29810616	29810616	G	A	KIF22	c.791G>A	NM_007317.3	NP_015556.1:p.(Arg264His)	NC_000016.9:g.29810616G>A	(Likely) benign	1 lab	84030e5ecd
4:158074049 GLRB G>T	4	158074049	158074049	G	T	GLRB	c.1084G>T	NM_000824.5	NP_000815.1:p.(Ala362Ser)	NC_000004.11:g.158074049G>T	VUS	1 lab	840703615e
1:237947244 RYR2 C>A	1	237947244	237947244	C	A	RYR2	c.12232C>A	NM_001035.3	NP_001026.2:p.(Leu4078Ile)	NC_000001.10:g.237947244C>A	VUS	1 lab	84075c0646
17:36486861 GPR179 C>T	17	36486861	36486861	C	T	GPR179	c.2591G>A	NM_001004334.4	NP_001004334.3:p.(Arg864Gln)	NC_000017.10:g.36486861C>T	(Likely) benign	1 lab	8409ccc8ca
1:11855282 MTHFR C>T	1	11855282	11855282	C	T	MTHFR	c.904G>A	NM_005957.5	NP_005948.3:p.(Ala302Thr)	NC_000001.10:g.11855282C>T	VUS	1 lab	840a7e73a8
20:45985392 ZMYND8 C>T	20	45985392	45985392	C	T	ZMYND8	c.14+9G>A	NM_001281775.3	NP_001268704.1:p.?	NC_000020.10:g.45985392C>T	(Likely) benign	1 lab	840baeb28c
11:66472309 SPTBN2 A>G	11	66472309	66472309	A	G	SPTBN2	c.2438T>C	NM_006946.4	NP_008877.2:p.(Leu813Pro)	NC_000011.9:g.66472309A>G	VUS	1 lab	840de3f592
6:1612163 FOXC1 G>A	6	1612163	1612163	G	A	FOXC1	c.1483G>A	NM_001453.3	NP_001444.2:p.(Ala495Thr)	NC_000006.11:g.1612163G>A	(Likely) benign	1 lab	840eb5edaa
X:77245338 ATP7A C>T	X	77245338	77245338	C	T	ATP7A	c.1220C>T	NM_000052.7	NP_000043.4:p.(Ser407Phe)	NC_000023.10:g.77245338C>T	VUS	1 lab	840f289a29
7:70252269 AUTS2 C>T	7	70252269	70252269	C	T	AUTS2	c.2383C>T	NM_015570.4	NP_056385.1:p.(Arg795Trp)	NC_000007.13:g.70252269C>T	VUS	1 lab	840ffb9628
20:61461145 COL9A3 G>A	20	61461145	61461145	G	A	COL9A3	c.1135G>A	NM_001853.4	NP_001844.3:p.(Gly379Ser)	NC_000020.10:g.61461145G>A	(Likely) benign	1 lab	841284c269
2:74699595 MRPL53 G>T	2	74699595	74699595	G	T	MRPL53	c.95C>A	NM_053050.5	NP_444278.1:p.(Thr32Asn)	NC_000002.11:g.74699595G>T	(Likely) benign	1 lab	841295eaec
X:47044451 RBM10 C>T	X	47044451	47044451	C	T	RBM10	c.1951-3C>T	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47044451C>T	VUS	1 lab	8413dea240
19:54485946 CACNG8 A>C	19	54485946	54485946	A	C	CACNG8	c.1121A>C	NM_031895.6	NP_114101.4:p.(Lys374Thr)	NC_000019.9:g.54485946A>C	(Likely) benign	1 lab	841664f790
4:6303178 WFS1 C>T	4	6303178	6303178	C	T	WFS1	c.1656C>T	NM_006005.3	NP_005996.2:p.(Thr552=)	NC_000004.11:g.6303178C>T	(Likely) benign	1 lab	8416c395e7
X:107435798 COL4A6 T>A	X	107435798	107435798	T	A	COL4A6	c.1085A>T	NM_033641.4	NP_378667.1:p.(Asp362Val)	NC_000023.10:g.107435798T>A	VUS	1 lab	8417aaf465
3:133969268 RYK G>C	3	133969268	133969268	G	C	RYK	c.231C>G	NM_002958.4	NP_002949.2:p.(Ile77Met)	NC_000003.11:g.133969268G>C	VUS	1 lab	84183e6712
X:31089842 FTHL17 G>A	X	31089842	31089842	G	A	FTHL17	c.229C>T	NM_031894.3	NP_114100.1:p.(Arg77Cys)	NC_000023.10:g.31089842G>A	(Likely) benign	1 lab	841b3d5ea7
11:17633764 OTOG G>T	11	17633764	17633764	G	T	OTOG	c.6179G>T	NM_001292063.2	NP_001278992.1:p.(Arg2060Leu)	NC_000011.9:g.17633764G>T	VUS	1 lab	841b6572ea
3:124454045 UMPS A>G	3	124454045	124454045	A	G	UMPS	c.262A>G	NM_000373.4	NP_000364.1:p.(Thr88Ala)	NC_000003.11:g.124454045A>G	VUS	1 lab	841bc7c24a
6:116442171 COL10A1 C>G	6	116442171	116442171	C	G	COL10A1	c.1108G>C	NM_000493.4	NP_000484.2:p.(Ala370Pro)	NC_000006.11:g.116442171C>G	VUS	1 lab	248742709d
9:26962089 IFT74 A>G	9	26962089	26962089	A	G	IFT74	c.120+4A>G	NM_025103.4	NP_079379.2:p.?	NC_000009.11:g.26962089A>G	VUS	1 lab	841f8ab1c6
3:184910289 EHHADH G>A	3	184910289	184910289	G	A	EHHADH	c.1897C>T	NM_001966.4	NP_001957.2:p.(Arg633Cys)	NC_000003.11:g.184910289G>A	(Likely) benign	1 lab	84206238c9
15:75562499 GOLGA6C C>T	15	75562499	75562499	C	T	GOLGA6C	c.2041C>T	NM_001164404.2	NP_001157876.1:p.(Gln681Ter)	NC_000015.9:g.75562499C>T	(Likely) benign	1 lab	8420c7081f
12:49431810 KMT2D C>T	12	49431810	49431810	C	T	KMT2D	c.9329G>A	NM_003482.4	NP_003473.3:p.(Arg3110His)	NC_000012.11:g.49431810C>T	(Likely) benign	1 lab	8421fdee89
9:135982109 RALGDS C>T	9	135982109	135982109	C	T	RALGDS	c.1440G>A	NM_006266.4	NP_006257.1:p.(Ser480=)	NC_000009.11:g.135982109C>T	VUS	1 lab	8422da050c
2:109380496 RANBP2 T>C	2	109380496	109380496	T	C	RANBP2	c.3501T>C	NM_006267.4	NP_006258.3:p.(Asp1167=)	NC_000002.11:g.109380496T>C	(Likely) benign	1 lab	25e6562915
11:111957396 TIMM8B C>T	11	111957396	111957396	C	T	TIMM8B	c.52G>A	NM_012459.4	NP_036591.3:p.(Ala18Thr)	NC_000011.9:g.111957396C>T	VUS	1 lab	84238ec7ae
9:101052969 GABBR2 C>G	9	101052969	101052969	C	G	GABBR2	c.2723G>C	NM_005458.8	NP_005449.5:p.(Gly908Ala)	NC_000009.11:g.101052969C>G	VUS	1 lab	8423e668ce
1:949837 ISG15 A>G	1	949837	949837	A	G	ISG15	c.477A>G	NM_005101.4	NP_005092.1:p.(Thr159=)	NC_000001.10:g.949837A>G	(Likely) benign	1 lab	25e9079225
16:2166542 PKD1 G>A	16	2166542	2166542	G	A	PKD1	c.1710C>T	NM_001009944.3	NP_001009944.3:p.(His570=)	NC_000016.9:g.2166542G>A	(Likely) benign	1 lab	842bd7ecdd
15:59500186 MYO1E T>C	15	59500186	59500186	T	C	MYO1E	c.1530+694A>G	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59500186T>C	VUS	1 lab	842d7050d7
9:35809452 NPR2 C>A	9	35809452	35809452	C	A	NPR2	c.*10C>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809452C>A	VUS	1 lab	842ed75660
4:77357309 SHROOM3 G>T	4	77357309	77357309	G	T	SHROOM3	c.104G>T	NM_020859.4	NP_065910.3:p.(Gly35Val)	NC_000004.11:g.77357309G>T	(Likely) benign	1 lab	842ef11006
X:47030560 RBM10 G>GGGA	X	47030560	47030584	G	GGGA	RBM10	c.357_359dup	NM_005676.5	NP_005667.2:p.(Glu119dup)	NC_000023.10:g.47030582_47030584dup	(Likely) benign	1 lab	842fc56b97
6:26027480 H4C2 T>C	6	26027480	26027480	T	C	H4C2	c.1A>G	NM_003544.3	NP_003535.1:p.(Met1?)	NC_000006.11:g.26027480T>C	VUS	1 lab	843098f0ac
16:23640517 PALB2 C>G	16	23640517	23640517	C	G	PALB2	c.2586+8G>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640517C>G	(Likely) benign	1 lab	84360d344b
15:34064243 RYR3 G>T	15	34064243	34064243	G	T	RYR3	c.8939G>T	NM_001036.6	NP_001027.3:p.(Arg2980Leu)	NC_000015.9:g.34064243G>T	VUS	1 lab	8436f05dda
11:46920492 LRP4 G>A	11	46920492	46920492	G	A	LRP4	c.639C>T	NM_002334.4	NP_002325.2:p.(Asp213=)	NC_000011.9:g.46920492G>A	(Likely) benign	1 lab	84371d563f
8:77767630 ZFHX4 A>T	8	77767630	77767630	A	T	ZFHX4	c.8473A>T	NM_024721.5	NP_078997.4:p.(Ser2825Cys)	NC_000008.10:g.77767630A>T	VUS	1 lab	8437a7a157
12:131466489 ADGRD1 C>T	12	131466489	131466489	C	T	ADGRD1	c.371C>T	NM_198827.5	NP_942122.2:p.(Ala124Val)	NC_000012.11:g.131466489C>T	(Likely) benign	1 lab	843904a5a1
12:52099414 SCN8A G>T	12	52099414	52099414	G	T	SCN8A	c.1341+7G>T	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52099414G>T	(Likely) benign	1 lab	84398b9945
6:109220944 ARMC2 G>A	6	109220944	109220944	G	A	ARMC2	c.796G>A	NM_032131.6	NP_115507.4:p.(Glu266Lys)	NC_000006.11:g.109220944G>A	VUS	1 lab	843b5ded4f
2:121712955 GLI2 G>A	2	121712955	121712955	G	A	GLI2	c.592G>A	NM_001374353.1	NP_001361282.1:p.(Gly198Arg)	NC_000002.11:g.121712955G>A	VUS	1 lab	843b7494a1
X:7811644 VCX G>A	X	7811644	7811644	G	A	VCX	c.208G>A	NM_001393662.1	NP_001380591.1:p.(Ala70Thr)	NC_000023.10:g.7811644G>A	(Likely) benign	1 lab	843b9bb0da
1:176563812 PAPPA2 C>T	1	176563812	176563812	C	T	PAPPA2	c.1072C>T	NM_020318.3	NP_064714.2:p.(Arg358Cys)	NC_000001.10:g.176563812C>T	VUS	1 lab	843c1f90c1
9:35805884 NPR2 T>A	9	35805884	35805884	T	A	NPR2	c.2105T>A	NM_003995.4	NP_003986.2:p.(Met702Lys)	NC_000009.11:g.35805884T>A	VUS	1 lab	843cf2451d
21:47766090 PCNT C>T	21	47766090	47766090	C	T	PCNT	c.688C>T	NM_006031.6	NP_006022.3:p.(Arg230Cys)	NC_000021.8:g.47766090C>T	VUS	1 lab	843d459b51
X:32519932 DMD A>C	X	32519932	32519932	A	C	DMD	c.2320T>G	NM_004006.3	NP_003997.2:p.(Phe774Val)	NC_000023.10:g.32519932A>C	(Likely) benign	1 lab	843daac3af
15:62146742 VPS13C T>C	15	62146742	62146742	T	C	VPS13C	c.11176A>G	NM_020821.3	NP_065872.1:p.(Ile3726Val)	NC_000015.9:g.62146742T>C	(Likely) benign	1 lab	843e67724d
19:1469832 APC2 C>T	19	1469832	1469832	C	T	APC2	c.6532C>T	NM_005883.3	NP_005874.1:p.(Pro2178Ser)	NC_000019.9:g.1469832C>T	(Likely) benign	1 lab	843ec34ff4
17:78079672 GAA G>A	17	78079672	78079672	G	A	GAA	c.671G>A	NM_000152.5	NP_000143.2:p.(Arg224Gln)	NC_000017.10:g.78079672G>A	(Likely) pathogenic	1 lab	248c5a45d2
3:10191563 VHL G>A	3	10191563	10191563	G	A	VHL	c.556G>A	NM_000551.4	NP_000542.1:p.(Glu186Lys)	NC_000003.11:g.10191563G>A	(Likely) pathogenic	1 lab	8441963351
4:81974646 BMP3 A>G	4	81974646	81974646	A	G	BMP3	c.1375A>G	NM_001201.5	NP_001192.4:p.(Lys459Glu)	NC_000004.11:g.81974646A>G	VUS	1 lab	8442b5633f
4:110223033 COL25A1 G>A	4	110223033	110223033	G	A	COL25A1	c.143C>T	NM_198721.4	NP_942014.1:p.(Ser48Phe)	NC_000004.11:g.110223033G>A	VUS	1 lab	8443ed36cf
11:46723022 ZNF408 C>G	11	46723022	46723022	C	G	ZNF408	c.126C>G	NM_024741.3	NP_079017.1:p.(Asp42Glu)	NC_000011.9:g.46723022C>G	(Likely) benign	1 lab	84446f9405
2:220420868 OBSL1 G>A	2	220420868	220420868	G	A	OBSL1	c.4483C>T	NM_015311.3	NP_056126.1:p.(Arg1495Cys)	NC_000002.11:g.220420868G>A	VUS	1 lab	844630c554
9:70483186 ZNG1E A>G	9	70483186	70483186	A	G	ZNG1E	c.430+2T>C	NM_001330668.2	NP_001317597.1:p.?	NC_000009.11:g.70483186A>G	(Likely) benign	1 lab	8446a73cfe
X:37027048 FAM47C C>T	X	37027048	37027048	C	T	FAM47C	c.565C>T	NM_001013736.3	NP_001013758.1:p.(Arg189Trp)	NC_000023.10:g.37027048C>T	VUS	1 lab	844762ea32
13:48878084 RB1 CGCCGCCGCT>C	13	48878084	48878101	CGCCGCCGCT	C	RB1	c.45_53del	NM_000321.3	NP_000312.2:p.(Ala16_Ala18del)	NC_000013.10:g.48878093_48878101del	(Likely) benign	1 lab	8447726623
1:204230441 PLEKHA6 G>A	1	204230441	204230441	G	A	PLEKHA6	c.517C>T	NM_014935.5	NP_055750.2:p.(Arg173Trp)	NC_000001.10:g.204230441G>A	(Likely) benign	1 lab	8449074f7e
2:219920092 IHH T>A	2	219920092	219920092	T	A	IHH	c.1073A>T	NM_002181.4	NP_002172.2:p.(Gln358Leu)	NC_000002.11:g.219920092T>A	VUS	1 lab	844a596bb9
5:149357610 SLC26A2 T>C	5	149357610	149357610	T	C	SLC26A2	c.395T>C	NM_000112.4	NP_000103.2:p.(Leu132Pro)	NC_000005.9:g.149357610T>C	VUS	1 lab	844e315a4f
7:22999990 HYCC1 T>C	7	22999990	22999990	T	C	HYCC1	c.876A>G	NM_032581.4	NP_115970.2:p.(Lys292=)	NC_000007.13:g.22999990T>C	VUS	1 lab	844f5a548c
19:13482541 CACNA1A G>A	19	13482541	13482541	G	A	CACNA1A	c.592C>T	NM_001127222.2	NP_001120694.1:p.(Arg198Ter)	NC_000019.9:g.13482541G>A	(Likely) pathogenic	1 lab	844f5dd90f
3:189586497 TP63 C>T	3	189586497	189586497	C	T	TP63	c.1121C>T	NM_003722.5	NP_003713.3:p.(Thr374Met)	NC_000003.11:g.189586497C>T	(Likely) benign	1 lab	845131209d
1:247587984 NLRP3 G>T	1	247587984	247587984	G	T	NLRP3	c.1233G>T	NM_001243133.2	NP_001230062.1:p.(Leu411=)	NC_000001.10:g.247587984G>T	(Likely) benign	1 lab	25ebef7867
X:153578079 FLNA A>G	X	153578079	153578079	A	G	FLNA	c.7490T>C	NM_001110556.2	NP_001104026.1:p.(Ile2497Thr)	NC_000023.10:g.153578079A>G	VUS	1 lab	845328e0ce
1:27121141 PIGV G>A	1	27121141	27121141	G	A	PIGV	c.616G>A	NM_017837.4	NP_060307.2:p.(Gly206Arg)	NC_000001.10:g.27121141G>A	VUS	1 lab	84625e62e6
16:2139904 PKD1 G>GGCTGTGCAGCT	16	2139904	2139919	G	GGCTGTGCAGCT	PKD1	c.12725_12735dup	NM_001009944.3	NP_001009944.3:p.(Leu4246SerfsTer116)	NC_000016.9:g.2139909_2139919dup	(Likely) pathogenic	1 lab	84533c0371
11:103043807 DYNC2H1 T>C	11	103043807	103043807	T	C	DYNC2H1	c.5335-4T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103043807T>C	(Likely) benign	1 lab	8453f2b400
7:103301862 RELN T>G	7	103301862	103301862	T	G	RELN	c.1402A>C	NM_005045.4	NP_005036.2:p.(Thr468Pro)	NC_000007.13:g.103301862T>G	(Likely) benign	1 lab	8455a40f50
9:35794066 NPR2 G>A	9	35794066	35794066	G	A	NPR2	c.839G>A	NM_003995.4	NP_003986.2:p.(Arg280Gln)	NC_000009.11:g.35794066G>A	(Likely) benign	1 lab	8455c0c926
2:166847867 SCN1A G>GT	2	166847867	166847873	G	GT	SCN1A	c.5917dup	NM_001165963.4	NP_001159435.1:p.(Thr1973AsnfsTer2)	NC_000002.11:g.166847873dup	VUS	1 lab	8455c49efa
11:6637739 TPP1 AT>A	11	6637739	6637759	AT	A	TPP1	c.887-6del	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6637759del	(Likely) benign	1 lab	8456a52d9e
10:68688158 CTNNA3 T>C	10	68688158	68688158	T	C	CTNNA3	c.1048-152876A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68688158T>C	VUS	1 lab	8457937854
3:9027576 SRGAP3 C>T	3	9027576	9027576	C	T	SRGAP3	c.2927G>A	NM_014850.4	NP_055665.1:p.(Arg976Gln)	NC_000003.11:g.9027576C>T	VUS	1 lab	8458bdae56
4:156864385 CTSO G>T	4	156864385	156864385	G	T	CTSO	c.167C>A	NM_001334.3	NP_001325.1:p.(Ser56Tyr)	NC_000004.11:g.156864385G>T	VUS	1 lab	845cd71272
7:47436421 TNS3 C>T	7	47436421	47436421	C	T	TNS3	c.1000G>A	NM_022748.12	NP_073585.8:p.(Glu334Lys)	NC_000007.13:g.47436421C>T	(Likely) benign	1 lab	845e6f132b
1:197091052 ASPM C>T	1	197091052	197091052	C	T	ASPM	c.3863G>A	NM_018136.5	NP_060606.3:p.(Arg1288His)	NC_000001.10:g.197091052C>T	(Likely) benign	1 lab	845f7dd70b
11:117352805 DSCAML1 G>A	11	117352805	117352805	G	A	DSCAML1	c.2432C>T	NM_020693.4	NP_065744.3:p.(Thr811Met)	NC_000011.9:g.117352805G>A	VUS	1 lab	846040de96
15:89835943 FANCI C>T	15	89835943	89835943	C	T	FANCI	c.2017C>T	NM_001113378.2	NP_001106849.1:p.(His673Tyr)	NC_000015.9:g.89835943C>T	VUS	1 lab	84609983b7
9:108377632 FKTN C>T	9	108377632	108377632	C	T	FKTN	c.854C>T	NM_001079802.2	NP_001073270.1:p.(Ala285Val)	NC_000009.11:g.108377632C>T	VUS	1 lab	8461150f66
13:77838144 MYCBP2 A>G	13	77838144	77838144	A	G	MYCBP2	c.1358-7T>C	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77838144A>G	(Likely) benign	1 lab	8461258f5b
16:56855487 NUP93 C>T	16	56855487	56855487	C	T	NUP93	c.636C>T	NM_014669.5	NP_055484.3:p.(Val212=)	NC_000016.9:g.56855487C>T	(Likely) benign	1 lab	25ec628c97
X:152482824 MAGEA1 C>T	X	152482824	152482824	C	T	MAGEA1	c.187G>A	NM_004988.5	NP_004979.3:p.(Ala63Thr)	NC_000023.10:g.152482824C>T	(Likely) benign	1 lab	84638f343e
16:30744998 SRCAP G>A	16	30744998	30744998	G	A	SRCAP	c.6373G>A	NM_006662.3	NP_006653.2:p.(Val2125Met)	NC_000016.9:g.30744998G>A	VUS	1 lab	8463f4dcd3
6:117245860 RFX6 C>T	6	117245860	117245860	C	T	RFX6	c.1584C>T	NM_173560.4	NP_775831.2:p.(Leu528=)	NC_000006.11:g.117245860C>T	(Likely) benign	1 lab	846418a8ee
10:76789770 KAT6B G>A	10	76789770	76789770	G	A	KAT6B	c.5188G>A	NM_012330.4	NP_036462.2:p.(Gly1730Arg)	NC_000010.10:g.76789770G>A	VUS	1 lab	8467239a22
19:33878398 PEPD C>G	19	33878398	33878398	C	G	PEPD	c.1345-11G>C	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33878398C>G	(Likely) benign	1 lab	25ef8e2471
16:88871189 CDT1 C>A	16	88871189	88871189	C	A	CDT1	c.371C>A	NM_030928.4	NP_112190.2:p.(Ala124Glu)	NC_000016.9:g.88871189C>A	VUS	1 lab	84692c3053
6:102337695 GRIK2 C>A	6	102337695	102337695	C	A	GRIK2	c.1705C>A	NM_021956.5	NP_068775.1:p.(Leu569Met)	NC_000006.11:g.102337695C>A	VUS	1 lab	84698e1eef
12:11244251 TAS2R43 AGTAGGG>A	12	11244251	11244257	AGTAGGG	A	TAS2R43	c.572_577del	NM_176884.2	NP_795365.2:p.(Thr191_Leu193delinsIle)	NC_000012.11:g.11244252_11244257del	VUS	1 lab	8469acf0f0
1:16374849 CLCNKB G>C	1	16374849	16374849	G	C	CLCNKB	c.510G>C	NM_000085.4	NP_000076.2:p.(Val170=)	NC_000001.10:g.16374849G>C	(Likely) benign	1 lab	25f09f7841
16:175075 NPRL3 CA>C	16	175075	175096	CA	C	NPRL3	c.188+5445del	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.175096del	(Likely) benign	1 lab	846bfe2491
19:50831761 KCNC3 G>C	19	50831761	50831761	G	C	KCNC3	c.579C>G	NM_004977.3	NP_004968.2:p.(Arg193=)	NC_000019.9:g.50831761G>C	(Likely) benign	1 lab	25f3ef6fa4
19:33444619 CEP89 G>A	19	33444619	33444619	G	A	CEP89	c.394C>T	NM_032816.5	NP_116205.3:p.(Gln132Ter)	NC_000019.9:g.33444619G>A	VUS	1 lab	248d4c5737
1:22191856 HSPG2 G>A	1	22191856	22191856	G	A	HSPG2	c.4317C>T	NM_005529.7	NP_005520.4:p.(Gly1439=)	NC_000001.10:g.22191856G>A	VUS	1 lab	846ed3e1b8
14:70442431 SMOC1 G>T	14	70442431	70442431	G	T	SMOC1	c.379-1G>T	NM_001034852.3	NP_001030024.1:p.?	NC_000014.8:g.70442431G>T	VUS	1 lab	8471cc9245
22:50297496 ALG12 CG>C	22	50297496	50297501	CG	C	ALG12	c.1456del	NM_024105.4	NP_077010.1:p.(Arg486GlyfsTer47)	NC_000022.10:g.50297501del	VUS	1 lab	8472348a99
4:42487664 ATP8A1 G>A	4	42487664	42487664	G	A	ATP8A1	c.2173C>T	NM_006095.2	NP_006086.1:p.(Arg725Cys)	NC_000004.11:g.42487664G>A	VUS	1 lab	84727c59a0
1:17380472 SDHB C>T	1	17380472	17380472	C	T	SDHB	c.43G>A	NM_003000.3	NP_002991.2:p.(Ala15Thr)	NC_000001.10:g.17380472C>T	VUS	1 lab	847299f6b8
16:88789312 PIEZO1 C>T	16	88789312	88789312	C	T	PIEZO1	c.4601G>A	NM_001142864.4	NP_001136336.2:p.(Arg1534Gln)	NC_000016.9:g.88789312C>T	VUS	1 lab	248de69b36
1:1960554 GABRD C>A	1	1960554	1960554	C	A	GABRD	c.696C>A	NM_000815.5	NP_000806.2:p.(Gly232=)	NC_000001.10:g.1960554C>A	VUS	1 lab	847539f183
15:99250795 IGF1R C>T	15	99250795	99250795	C	T	IGF1R	c.99C>T	NM_000875.5	NP_000866.1:p.(Cys33=)	NC_000015.9:g.99250795C>T	(Likely) benign	1 lab	84755caa42
5:33461375 TARS1 T>G	5	33461375	33461375	T	G	TARS1	c.1526T>G	NM_152295.5	NP_689508.3:p.(Ile509Ser)	NC_000005.9:g.33461375T>G	VUS	1 lab	84794bbb1e
5:98212551 CHD1 T>C	5	98212551	98212551	T	C	CHD1	c.3238-289A>G	NM_001270.4	NP_001261.2:p.?	NC_000005.9:g.98212551T>C	VUS	1 lab	847951f595
9:130581039 ENG G>A	9	130581039	130581039	G	A	ENG	c.1384C>T	NM_000118.3	NP_000109.1:p.(Gln462Ter)	NC_000009.11:g.130581039G>A	(Likely) pathogenic	1 lab	25fc4de32d
19:17007311 CPAMD8 T>TGGCGGCAGGCGGCCTCCCGCA	19	17007311	17007343	T	TGGCGGCAGGCGGCCTCCCGCA	CPAMD8	c.5210_5230dup	NM_015692.5	NP_056507.3:p.(Leu1737_Arg1743dup)	NC_000019.9:g.17007323_17007343dup	VUS	1 lab	847aaf689e
8:144995762 PLEC C>T	8	144995762	144995762	C	T	PLEC	c.8227G>A	NM_201384.3	NP_958786.1:p.(Val2743Met)	NC_000008.10:g.144995762C>T	(Likely) benign	1 lab	847c9d3a61
11:73789277 C2CD3 G>A	11	73789277	73789277	G	A	C2CD3	c.4486C>T	NM_001286577.2	NP_001273506.1:p.(Arg1496Ter)	NC_000011.9:g.73789277G>A	VUS	1 lab	847cb3fcc8
9:141014733 CACNA1B GCACCAC>G	9	141014733	141014749	GCACCAC	G	CACNA1B	c.6158_6163del	NM_000718.4	NP_000709.1:p.(His2053_His2054del)	NC_000009.11:g.141014744_141014749del	VUS	1 lab	847e73c054
4:73169737 ADAMTS3 G>A	4	73169737	73169737	G	A	ADAMTS3	c.2321C>T	NM_014243.3	NP_055058.2:p.(Ser774Leu)	NC_000004.11:g.73169737G>A	VUS	1 lab	847feadd5e
15:99491900 IGF1R G>A	15	99491900	99491900	G	A	IGF1R	c.3685G>A	NM_000875.5	NP_000866.1:p.(Gly1229Ser)	NC_000015.9:g.99491900G>A	VUS	1 lab	8482d1b037
2:166142450 SCN2A G>A	2	166142450	166142450	G	A	SCN2A	c.-51-9833G>A	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166142450G>A	(Likely) benign	1 lab	84842a9739
17:1640834 WDR81 G>A	17	1640834	1640834	G	A	WDR81	c.5681G>A	NM_001163809.2	NP_001157281.1:p.(Cys1894Tyr)	NC_000017.10:g.1640834G>A	VUS	1 lab	8484a7a90d
17:56289785 MKS1 C>T	17	56289785	56289785	C	T	MKS1	c.869G>A	NM_017777.4	NP_060247.2:p.(Arg290Gln)	NC_000017.10:g.56289785C>T	VUS	1 lab	8487bec511
15:78775655 IREB2 C>T	15	78775655	78775655	C	T	IREB2	c.1297-5C>T	NM_004136.4	NP_004127.2:p.?	NC_000015.9:g.78775655C>T	(Likely) benign	1 lab	8488c4690a
10:13164449 OPTN A>C	10	13164449	13164449	A	C	OPTN	c.844A>C	NM_001008212.2	NP_001008213.1:p.(Thr282Pro)	NC_000010.10:g.13164449A>C	(Likely) benign	1 lab	8489930714
2:157186476 NR4A2 G>A	2	157186476	157186476	G	A	NR4A2	c.223C>T	NM_006186.4	NP_006177.1:p.(Pro75Ser)	NC_000002.11:g.157186476G>A	VUS	1 lab	848a6607fb
15:90190264 KIF7 C>T	15	90190264	90190264	C	T	KIF7	c.1585G>A	NM_198525.3	NP_940927.2:p.(Glu529Lys)	NC_000015.9:g.90190264C>T	VUS	1 lab	848bfff7ad
9:34655228 IL11RA G>T	9	34655228	34655228	G	T	IL11RA	c.14G>T	NM_001142784.3	NP_001136256.1:p.(Cys5Phe)	NC_000009.11:g.34655228G>T	(Likely) benign	1 lab	848d803ecd
3:75787373 ZNF717 C>A	3	75787373	75787373	C	A	ZNF717	c.1401G>T	NM_001290208.3	NP_001277137.1:p.(Arg467Ser)	NC_000003.11:g.75787373C>A	(Likely) benign	1 lab	848e4b8151
3:93646094 PROS1 C>A	3	93646094	93646094	C	A	PROS1	c.234G>T	NM_000313.4	NP_000304.2:p.(Thr78=)	NC_000003.11:g.93646094C>A	VUS	1 lab	85f42c097a
20:6021877 LRRN4 C>T	20	6021877	6021877	C	T	LRRN4	c.2014G>A	NM_152611.5	NP_689824.2:p.(Ala672Thr)	NC_000020.10:g.6021877C>T	(Likely) benign	1 lab	848ea911ec
10:89503180 PAPSS2 C>A	10	89503180	89503180	C	A	PAPSS2	c.1273C>A	NM_001015880.2	NP_001015880.1:p.(Leu425Met)	NC_000010.10:g.89503180C>A	VUS	1 lab	848fad7273
9:139617815 DIPK1B G>A	9	139617815	139617815	G	A	DIPK1B	c.885G>A	NM_152421.4	NP_689634.2:p.(Met295Ile)	NC_000009.11:g.139617815G>A	(Likely) benign	1 lab	849371133b
17:3969785 ZZEF1 T>C	17	3969785	3969785	T	C	ZZEF1	c.4205A>G	NM_015113.4	NP_055928.3:p.(Glu1402Gly)	NC_000017.10:g.3969785T>C	VUS	1 lab	8494bd6b03
11:119535679 NECTIN1 C>CCCT	11	119535679	119535680	C	CCCT	NECTIN1	c.1331_1332insAGG	NM_002855.5	NP_002846.3:p.(Gly449dup)	NC_000011.9:g.119535679_119535680insCCT	(Likely) benign	1 lab	2491a82ddb
3:44612137 ZKSCAN7 G>A	3	44612137	44612137	G	A	ZKSCAN7	c.1535G>A	NM_001288590.2	NP_001275519.1:p.(Arg512Gln)	NC_000003.11:g.44612137G>A	(Likely) benign	1 lab	8495a2eab5
12:83360729 TMTC2 A>G	12	83360729	83360729	A	G	TMTC2	c.1901A>G	NM_152588.3	NP_689801.1:p.(Gln634Arg)	NC_000012.11:g.83360729A>G	(Likely) benign	1 lab	8496fed974
19:43575906 PSG2 G>C	19	43575906	43575906	G	C	PSG2	c.910C>G	NM_031246.4	NP_112536.2:p.(Arg304Gly)	NC_000019.9:g.43575906G>C	(Likely) benign	1 lab	849795b757
1:29585177 PTPRU C>T	1	29585177	29585177	C	T	PTPRU	c.366C>T	NM_133178.4	NP_573439.2:p.(Arg122=)	NC_000001.10:g.29585177C>T	(Likely) benign	1 lab	8497d91c36
17:3848361 ATP2A3 C>T	17	3848361	3848361	C	T	ATP2A3	c.1177G>A	NM_005173.4	NP_005164.2:p.(Gly393Ser)	NC_000017.10:g.3848361C>T	VUS	1 lab	8498da995c
9:139347953 SEC16A G>A	9	139347953	139347953	G	A	SEC16A	c.6086C>T	NM_014866.2	NP_055681.1:p.(Pro2029Leu)	NC_000009.11:g.139347953G>A	(Likely) benign	1 lab	8499a21051
11:85340306 TMEM126B G>C	11	85340306	85340306	G	C	TMEM126B	c.81+574G>C	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85340306G>C	(Likely) benign	1 lab	849a0bb014
1:111964251 OVGP1 C>T	1	111964251	111964251	C	T	OVGP1	c.653G>A	NM_002557.4	NP_002548.3:p.(Ser218Asn)	NC_000001.10:g.111964251C>T	(Likely) benign	1 lab	849b1baec2
19:4818044 TICAM1 C>T	19	4818044	4818044	C	T	TICAM1	c.346G>A	NM_182919.4	NP_891549.1:p.(Val116Met)	NC_000019.9:g.4818044C>T	(Likely) benign	1 lab	849bec1c4f
21:46595764 ADARB1 G>A	21	46595764	46595764	G	A	ADARB1	c.148G>A	NM_001112.4	NP_001103.1:p.(Gly50Ser)	NC_000021.8:g.46595764G>A	(Likely) benign	1 lab	849d96fe1b
9:125752374 RABGAP1 C>T	9	125752374	125752374	C	T	RABGAP1	c.805C>T	NM_012197.4	NP_036329.3:p.(Arg269Cys)	NC_000009.11:g.125752374C>T	VUS	1 lab	849e098887
X:153051877 IDH3G C>T	X	153051877	153051877	C	T	IDH3G	c.952G>A	NM_004135.4	NP_004126.1:p.(Ala318Thr)	NC_000023.10:g.153051877C>T	VUS	1 lab	849ebcc582
9:140610908 EHMT1 A>G	9	140610908	140610908	A	G	EHMT1	c.86-170A>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610908A>G	(Likely) benign	1 lab	84a03b86d2
2:130832676 POTEF A>G	2	130832676	130832676	A	G	POTEF	c.2369T>C	NM_001099771.2	NP_001093241.1:p.(Phe790Ser)	NC_000002.11:g.130832676A>G	VUS	1 lab	84a3a3a652
16:3025735 PKMYT1 G>A	16	3025735	3025735	G	A	PKMYT1	c.457C>T	NM_004203.5	NP_004194.3:p.(Arg153Cys)	NC_000016.9:g.3025735G>A	(Likely) benign	1 lab	84a4bb15a3
7:19156792 TWIST1 CCCCGCGCCGCCG>C	7	19156792	19156811	CCCCGCGCCGCCG	C	TWIST1	c.141_152del	NM_000474.4	NP_000465.1:p.(Gly48_Gly51del)	NC_000007.13:g.19156800_19156811del	VUS	1 lab	84a61a7772
12:53069000 KRT1 T>A	12	53069000	53069000	T	A	KRT1	c.1912A>T	NM_006121.4	NP_006112.3:p.(Thr638Ser)	NC_000012.11:g.53069000T>A	VUS	1 lab	84a83d248b
5:112154920 APC CAA>C	5	112154920	112154922	CAA	C	APC	c.1192_1193del	NM_000038.6	NP_000029.2:p.(Lys398GlufsTer5)	NC_000005.9:g.112154921_112154922del	(Likely) pathogenic	1 lab	84a90c8484
15:91352487 BLM C>T	15	91352487	91352487	C	T	BLM	c.3872C>T	NM_000057.4	NP_000048.1:p.(Pro1291Leu)	NC_000015.9:g.91352487C>T	VUS	1 lab	84a961c3ac
16:57494529 COQ9 G>A	16	57494529	57494529	G	A	COQ9	c.950G>A	NM_020312.4	NP_064708.1:p.(Arg317His)	NC_000016.9:g.57494529G>A	VUS	1 lab	84a9abeade
X:48979067 GPKOW C>A	X	48979067	48979067	C	A	GPKOW	c.236G>T	NM_015698.6	NP_056513.2:p.(Arg79Leu)	NC_000023.10:g.48979067C>A	(Likely) benign	1 lab	84aa0fcbe7
12:6604272 NCAPD2 C>A	12	6604272	6604272	C	A	NCAPD2	c.8C>A	NM_014865.4	NP_055680.3:p.(Pro3His)	NC_000012.11:g.6604272C>A	VUS	1 lab	84ab1d6360
14:94849015 SERPINA1 T>C	14	94849015	94849015	T	C	SERPINA1	c.560A>G	NM_000295.5	NP_000286.3:p.(Lys187Arg)	NC_000014.8:g.94849015T>C	VUS	1 lab	84abc86058
14:23896032 MYH7 A>T	14	23896032	23896032	A	T	MYH7	c.1998T>A	NM_000257.4	NP_000248.2:p.(His666Gln)	NC_000014.8:g.23896032A>T	VUS	1 lab	84abd9caad
3:171338305 PLD1 T>G	3	171338305	171338305	T	G	PLD1	c.2599A>C	NM_002662.5	NP_002653.1:p.(Asn867His)	NC_000003.11:g.171338305T>G	VUS	1 lab	84b022a379
12:53343124 KRT18 G>A	12	53343124	53343124	G	A	KRT18	c.167G>A	NM_000224.3	NP_000215.1:p.(Gly56Asp)	NC_000012.11:g.53343124G>A	(Likely) benign	1 lab	84b215b58a
2:70524427 TIMCC T>C	2	70524427	70524427	T	C	TIMCC	c.732A>G	NM_001329752.2	NP_001316681.1:p.(Gly244=)	NC_000002.11:g.70524427T>C	VUS	1 lab	84b47c2200
X:129769041 ENOX2 A>G	X	129769041	129769041	A	G	ENOX2	c.1336T>C	NM_006375.4	NP_006366.2:p.(Tyr446His)	NC_000023.10:g.129769041A>G	(Likely) benign	1 lab	84b5ab1789
2:170060788 LRP2 T>C	2	170060788	170060788	T	C	LRP2	c.7716-7A>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170060788T>C	(Likely) benign	1 lab	84b7101349
3:129284737 PLXND1 G>C	3	129284737	129284737	G	C	PLXND1	c.4315C>G	NM_015103.3	NP_055918.3:p.(Arg1439Gly)	NC_000003.11:g.129284737G>C	(Likely) benign	1 lab	84b7c7a750
10:35928419 FZD8 C>CGG	10	35928419	35928421	C	CGG	FZD8	c.1938_1939insCC	NM_031866.3	NP_114072.1:p.(Gly647ProfsTer28)	NC_000010.10:g.35928420_35928421insGG	VUS	1 lab	84b804dba9
1:31414838 PUM1 C>A	1	31414838	31414838	C	A	PUM1	c.3120+7G>T	NM_001020658.2	NP_001018494.1:p.?	NC_000001.10:g.31414838C>A	VUS	1 lab	84b9a30f80
3:145788508 PLOD2 G>C	3	145788508	145788508	G	C	PLOD2	c.2273C>G	NM_182943.3	NP_891988.1:p.(Pro758Arg)	NC_000003.11:g.145788508G>C	VUS	1 lab	84bcbfe360
9:94118272 AUH A>T	9	94118272	94118272	A	T	AUH	c.331-20T>A	NM_001698.3	NP_001689.1:p.?	NC_000009.11:g.94118272A>T	VUS	1 lab	84bdff9478
9:131403053 DYNC2I2 T>G	9	131403053	131403053	T	G	DYNC2I2	c.352A>C	NM_052844.4	NP_443076.2:p.(Met118Leu)	NC_000009.11:g.131403053T>G	(Likely) benign	1 lab	84be79698d
5:174108 PLEKHG4B A>C	5	174108	174108	A	C	PLEKHG4B	c.4297A>C	NM_052909.5	NP_443141.4:p.(Lys1433Gln)	NC_000005.9:g.174108A>C	VUS	1 lab	84be881b23
17:6361023 PITPNM3 G>A	17	6361023	6361023	G	A	PITPNM3	c.2510C>T	NM_031220.4	NP_112497.2:p.(Ala837Val)	NC_000017.10:g.6361023G>A	VUS	1 lab	84bf3cdc6d
6:116442881 COL10A1 C>G	6	116442881	116442881	C	G	COL10A1	c.398G>C	NM_000493.4	NP_000484.2:p.(Gly133Ala)	NC_000006.11:g.116442881C>G	VUS	1 lab	84bf6b9414
6:5369212 FARS2 A>G	6	5369212	5369212	A	G	FARS2	c.409A>G	NM_006567.5	NP_006558.1:p.(Ser137Gly)	NC_000006.11:g.5369212A>G	VUS	1 lab	84bf80f4a5
19:10799328 ILF3 G>A	19	10799328	10799328	G	A	ILF3	c.2537G>A	NM_017620.3	NP_060090.2:p.(Gly846Asp)	NC_000019.9:g.10799328G>A	VUS	1 lab	84bf849c0b
6:152786487 SYNE1 G>A	6	152786487	152786487	G	A	SYNE1	c.1838C>T	NM_182961.4	NP_892006.3:p.(Ser613Phe)	NC_000006.11:g.152786487G>A	(Likely) benign	1 lab	84c2678cef
2:172604356 DYNC1I2 G>A	2	172604356	172604356	G	A	DYNC1I2	c.1874G>A	NM_001378.3	NP_001369.1:p.(Arg625Gln)	NC_000002.11:g.172604356G>A	VUS	1 lab	84c2a08070
14:76525022 IFT43 G>A	14	76525022	76525022	G	A	IFT43	c.248+5G>A	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76525022G>A	VUS	1 lab	84c2c42ddb
18:13645481 LDLRAD4 A>T	18	13645481	13645481	A	T	LDLRAD4	c.746A>T	NM_001378100.1	NP_001365029.1:p.(Glu249Val)	NC_000018.9:g.13645481A>T	VUS	1 lab	84c33662e5
16:90004778 MISSING G>C	16	90004778	90004778	G	C	MISSING				NC_000016.9:g.90004778G>C	VUS	1 lab	84c34188b4
11:64138782 RPS6KA4 T>G	11	64138782	64138782	T	G	RPS6KA4	c.2149T>G	NM_003942.3	NP_003933.1:p.(Phe717Val)	NC_000011.9:g.64138782T>G	VUS	1 lab	84c5176f43
10:45488725 RASSF4 C>G	10	45488725	45488725	C	G	RASSF4	c.914C>G	NM_032023.4	NP_114412.2:p.(Ala305Gly)	NC_000010.10:g.45488725C>G	(Likely) benign	1 lab	84c694a36e
5:112174047 APC GA>G	5	112174047	112174050	GA	G	APC	c.2759del	NM_000038.6	NP_000029.2:p.(Asn920MetfsTer35)	NC_000005.9:g.112174050del	(Likely) pathogenic	1 lab	84c79f7283
9:35906604 HRCT1 A>C	9	35906604	35906604	A	C	HRCT1	c.320A>C	NM_001039792.2	NP_001034881.1:p.(His107Pro)	NC_000009.11:g.35906604A>C	(Likely) benign	1 lab	84c8617c15
6:109763831 SMPD2 G>C	6	109763831	109763831	G	C	SMPD2	c.491+3G>C	NM_003080.3	NP_003071.2:p.?	NC_000006.11:g.109763831G>C	(Likely) benign	1 lab	84c914142b
3:47161933 SETD2 A>G	3	47161933	47161933	A	G	SETD2	c.4193T>C	NM_014159.7	NP_054878.5:p.(Ile1398Thr)	NC_000003.11:g.47161933A>G	(Likely) benign	1 lab	84cb0a8b3e
16:88778573 CTU2 C>T	16	88778573	88778573	C	T	CTU2	c.344-109C>T	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88778573C>T	VUS	1 lab	84cd16b48a
X:49114007 FOXP3 C>T	X	49114007	49114007	C	T	FOXP3	c.331G>A	NM_014009.4	NP_054728.2:p.(Ala111Thr)	NC_000023.10:g.49114007C>T	(Likely) benign	1 lab	84cd7347b2
16:15841765 MYH11 C>G	16	15841765	15841765	C	G	MYH11	c.2216G>C	NM_002474.3	NP_002465.1:p.(Gly739Ala)	NC_000016.9:g.15841765C>G	VUS	1 lab	84ce0f5e10
15:72170400 MYO9A G>A	15	72170400	72170400	G	A	MYO9A	c.5912C>T	NM_006901.4	NP_008832.2:p.(Ser1971Leu)	NC_000015.9:g.72170400G>A	(Likely) benign	1 lab	84ce66a862
5:109103253 MAN2A1 G>A	5	109103253	109103253	G	A	MAN2A1	c.853G>A	NM_002372.4	NP_002363.2:p.(Gly285Ser)	NC_000005.9:g.109103253G>A	(Likely) benign	1 lab	84cfd3eae1
8:135602549 ZFAT T>A	8	135602549	135602549	T	A	ZFAT	c.2525A>T	NM_020863.4	NP_065914.2:p.(Asp842Val)	NC_000008.10:g.135602549T>A	VUS	1 lab	84d0405d4b
X:106486436 DNAAF6 A>C	X	106486436	106486436	A	C	DNAAF6	c.553A>C	NM_173494.2	NP_775765.1:p.(Thr185Pro)	NC_000023.10:g.106486436A>C	(Likely) benign	1 lab	84d096d66f
14:104570755 ASPG G>A	14	104570755	104570755	G	A	ASPG	c.868G>A	NM_001080464.3	NP_001073933.2:p.(Gly290Ser)	NC_000014.8:g.104570755G>A	VUS	1 lab	84d156b5db
10:88988118 NUTM2A C>T	10	88988118	88988118	C	T	NUTM2A	c.481C>T	NM_001099338.2	NP_001092808.1:p.(His161Tyr)	NC_000010.10:g.88988118C>T	(Likely) benign	1 lab	84d49d022c
11:103153758 DYNC2H1 G>C	11	103153758	103153758	G	C	DYNC2H1	c.10834G>C	NM_001377.3	NP_001368.2:p.(Asp3612His)	NC_000011.9:g.103153758G>C	(Likely) benign	1 lab	84d4a6b213
21:16339466 NRIP1 T>C	21	16339466	16339466	T	C	NRIP1	c.1048A>G	NM_003489.4	NP_003480.2:p.(Met350Val)	NC_000021.8:g.16339466T>C	VUS	1 lab	84d734856f
2:135911320 RAB3GAP1 GA>G	2	135911320	135911323	GA	G	RAB3GAP1	c.2166del	NM_012233.3	NP_036365.1:p.(Gly723GlufsTer3)	NC_000002.11:g.135911323del	(Likely) pathogenic	1 lab	84d80a6af4
17:18395772 LGALS9C C>T	17	18395772	18395772	C	T	LGALS9C	c.674C>T	NM_001040078.3	NP_001035167.2:p.(Pro225Leu)	NC_000017.10:g.18395772C>T	VUS	1 lab	84d90a9537
3:30713660 TGFBR2 G>A	3	30713660	30713660	G	A	TGFBR2	c.985G>A	NM_003242.6	NP_003233.4:p.(Ala329Thr)	NC_000003.11:g.30713660G>A	(Likely) benign	1 lab	84da81ef0b
2:179417781 TTN G>A	2	179417781	179417781	G	A	TTN	c.89846C>T	NM_001267550.2	NP_001254479.2:p.(Thr29949Ile)	NC_000002.11:g.179417781G>A	VUS	1 lab	84dbcb90c4
22:42606753 TCF20 G>T	22	42606753	42606753	G	T	TCF20	c.4559C>A	NM_001378418.1	NP_001365347.1:p.(Thr1520Lys)	NC_000022.10:g.42606753G>T	(Likely) benign	1 lab	84dd97bcc9
17:7752286 KDM6B A>AC	17	7752286	7752291	A	AC	KDM6B	c.2685dup	NM_001348716.2	NP_001335645.1:p.(Thr896HisfsTer15)	NC_000017.10:g.7752291dup	(Likely) benign	1 lab	84e11a7cea
4:1801218 FGFR3 G>A	4	1801218	1801218	G	A	FGFR3	c.347G>A	NM_000142.5	NP_000133.1:p.(Arg116His)	NC_000004.11:g.1801218G>A	(Likely) benign	1 lab	84e1a2013b
11:68183903 LRP5 G>A	11	68183903	68183903	G	A	LRP5	c.2935G>A	NM_002335.4	NP_002326.2:p.(Val979Ile)	NC_000011.9:g.68183903G>A	(Likely) benign	1 lab	84e31c043b
11:117267892 CEP164 C>T	11	117267892	117267892	C	T	CEP164	c.3364C>T	NM_014956.5	NP_055771.4:p.(Arg1122Cys)	NC_000011.9:g.117267892C>T	(Likely) benign	1 lab	25ff63d510
22:41573800 EP300 C>T	22	41573800	41573800	C	T	EP300	c.6085C>T	NM_001429.4	NP_001420.2:p.(Pro2029Ser)	NC_000022.10:g.41573800C>T	(Likely) benign	1 lab	84e90d8b58
1:22169926 HSPG2 G>A	1	22169926	22169926	G	A	HSPG2	c.8622C>T	NM_005529.7	NP_005520.4:p.(His2874=)	NC_000001.10:g.22169926G>A	(Likely) benign	1 lab	84e91e4dca
17:80039687 FASN C>T	17	80039687	80039687	C	T	FASN	c.6196G>A	NM_004104.5	NP_004095.4:p.(Val2066Met)	NC_000017.10:g.80039687C>T	VUS	1 lab	84eb14c0e2
X:153296404 MECP2 G>C	X	153296404	153296404	G	C	MECP2	c.911C>G	NM_001110792.2	NP_001104262.1:p.(Ser304Cys)	NC_000023.10:g.153296404G>C	(Likely) benign	1 lab	84ec13dbce
19:6444197 SLC25A23 G>A	19	6444197	6444197	G	A	SLC25A23	c.1187C>T	NM_024103.3	NP_077008.2:p.(Pro396Leu)	NC_000019.9:g.6444197G>A	VUS	1 lab	84ec1ea6c7
4:170483338 NEK1 T>C	4	170483338	170483338	T	C	NEK1	c.1030A>G	NM_001199397.3	NP_001186326.1:p.(Thr344Ala)	NC_000004.11:g.170483338T>C	(Likely) benign	1 lab	84eec4135c
10:32322918 KIF5B A>C	10	32322918	32322918	A	C	KIF5B	c.1160T>G	NM_004521.3	NP_004512.1:p.(Leu387Trp)	NC_000010.10:g.32322918A>C	VUS	1 lab	84f197f881
5:90119312 ADGRV1 G>A	5	90119312	90119312	G	A	ADGRV1	c.16267G>A	NM_032119.4	NP_115495.3:p.(Gly5423Arg)	NC_000005.9:g.90119312G>A	(Likely) benign	1 lab	84f2b0378e
12:49449335 KMT2D G>A	12	49449335	49449335	G	A	KMT2D	c.-37-191C>T	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49449335G>A	(Likely) benign	1 lab	84f3c3578d
1:114402193 PTPN22 T>C	1	114402193	114402193	T	C	PTPN22	c.88-111A>G	NM_015967.8	NP_057051.4:p.?	NC_000001.10:g.114402193T>C	(Likely) benign	1 lab	84f451029c
14:21861360 CHD8 T>C	14	21861360	21861360	T	C	CHD8	c.6373A>G	NM_001170629.2	NP_001164100.1:p.(Met2125Val)	NC_000014.8:g.21861360T>C	(Likely) benign	1 lab	84f5fc3506
3:47087982 SETD2 G>C	3	47087982	47087982	G	C	SETD2	c.7093C>G	NM_014159.7	NP_054878.5:p.(Gln2365Glu)	NC_000003.11:g.47087982G>C	VUS	1 lab	24990ff1ac
7:87035773 ABCB4 T>A	7	87035773	87035773	T	A	ABCB4	c.3317A>T	NM_000443.4	NP_000434.1:p.(Gln1106Leu)	NC_000007.13:g.87035773T>A	VUS	1 lab	84fa1ee3b1
19:38990610 RYR1 A>G	19	38990610	38990610	A	G	RYR1	c.7277A>G	NM_000540.3	NP_000531.2:p.(Tyr2426Cys)	NC_000019.9:g.38990610A>G	VUS	1 lab	84facbb7f8
2:152370137 NEB G>A	2	152370137	152370137	G	A	NEB	c.23198C>T	NM_001164508.2	NP_001157980.2:p.(Pro7733Leu)	NC_000002.11:g.152370137G>A	VUS	1 lab	84fc03037b
17:59485424 TBX2 A>G	17	59485424	59485424	A	G	TBX2	c.1696A>G	NM_005994.4	NP_005985.3:p.(Met566Val)	NC_000017.10:g.59485424A>G	(Likely) benign	1 lab	84fd270e36
16:75682511 TERF2IP C>T	16	75682511	75682511	C	T	TERF2IP	c.670+61C>T	NM_018975.4	NP_061848.2:p.?	NC_000016.9:g.75682511C>T	VUS	1 lab	84fd7224da
12:51457921 CSRNP2 T>C	12	51457921	51457921	T	C	CSRNP2	c.1240A>G	NM_030809.3	NP_110436.1:p.(Ser414Gly)	NC_000012.11:g.51457921T>C	(Likely) benign	1 lab	84ffbfdeec
14:64518634 SYNE2 T>G	14	64518634	64518634	T	G	SYNE2	c.8003T>G	NM_182914.3	NP_878918.2:p.(Leu2668Trp)	NC_000014.8:g.64518634T>G	(Likely) benign	1 lab	85002351c3
20:30898131 KIF3B C>T	20	30898131	30898131	C	T	KIF3B	c.551C>T	NM_004798.4	NP_004789.1:p.(Thr184Ile)	NC_000020.10:g.30898131C>T	(Likely) benign	1 lab	8500580caf
20:1276949 SNPH A>G	20	1276949	1276949	A	G	SNPH	c.66A>G	NM_001318234.2	NP_001305163.1:p.(Pro22=)	NC_000020.10:g.1276949A>G	(Likely) benign	1 lab	85017dd86c
16:49671924 ZNF423 C>T	16	49671924	49671924	C	T	ZNF423	c.1163G>A	NM_001379286.1	NP_001366215.1:p.(Arg388His)	NC_000016.9:g.49671924C>T	VUS	1 lab	8502480e86
7:44187429 GCK G>A	7	44187429	44187429	G	A	GCK	c.683C>T	NM_000162.5	NP_000153.1:p.(Thr228Met)	NC_000007.13:g.44187429G>A	(Likely) pathogenic	1 lab	8502d2817e
15:48762951 FBN1 T>C	15	48762951	48762951	T	C	FBN1	c.4339A>G	NM_000138.5	NP_000129.3:p.(Ile1447Val)	NC_000015.9:g.48762951T>C	VUS	1 lab	85041b8276
8:99161244 POP1 T>G	8	99161244	99161244	T	G	POP1	c.1902+10T>G	NM_001145860.2	NP_001139332.1:p.?	NC_000008.10:g.99161244T>G	(Likely) benign	1 lab	8504ab08c5
16:1270736 CACNA1H T>G	16	1270736	1270736	T	G	CACNA1H	c.6804T>G	NM_021098.3	NP_066921.2:p.(Phe2268Leu)	NC_000016.9:g.1270736T>G	VUS	1 lab	8504e5c113
2:112705157 MERTK T>C	2	112705157	112705157	T	C	MERTK	c.757+13T>C	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112705157T>C	(Likely) benign	1 lab	249a4d580a
13:67801473 PCDH9 A>G	13	67801473	67801473	A	G	PCDH9	c.1100T>C	NM_203487.3	NP_982354.1:p.(Ile367Thr)	NC_000013.10:g.67801473A>G	VUS	1 lab	85068deb9d
16:89620894 SPG7 G>A	16	89620894	89620894	G	A	SPG7	c.2104G>A	NM_003119.4	NP_003110.1:p.(Glu702Lys)	NC_000016.9:g.89620894G>A	(Likely) pathogenic	1 lab	85069f4310
17:80041385 FASN G>A	17	80041385	80041385	G	A	FASN	c.5341+8C>T	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80041385G>A	(Likely) benign	1 lab	8507682acc
6:157527514 ARID1B G>T	6	157527514	157527514	G	T	ARID1B	c.5608G>T	NM_001374828.1	NP_001361757.1:p.(Asp1870Tyr)	NC_000006.11:g.157527514G>T	VUS	1 lab	85078ac020
X:123540307 TENM1 G>A	X	123540307	123540307	G	A	TENM1	c.5015C>T	NM_001163278.2	NP_001156750.1:p.(Thr1672Met)	NC_000023.10:g.123540307G>A	(Likely) benign	1 lab	85078d3b9d
3:112736287 RMP64 T>C	3	112736287	112736287	T	C	RMP64	c.261+8A>G	NM_015412.4	NP_056227.2:p.?	NC_000003.11:g.112736287T>C	(Likely) benign	1 lab	8507b51653
22:46859972 CELSR1 C>T	22	46859972	46859972	C	T	CELSR1	c.3815G>A	NM_001378328.1	NP_001365257.1:p.(Gly1272Asp)	NC_000022.10:g.46859972C>T	VUS	1 lab	8507e105fc
12:121176105 ACADS C>G	12	121176105	121176105	C	G	ACADS	c.647C>G	NM_000017.4	NP_000008.1:p.(Pro216Arg)	NC_000012.11:g.121176105C>G	VUS	1 lab	850899c396
17:65908430 BPTF A>C	17	65908430	65908430	A	C	BPTF	c.4430A>C	NM_182641.4	NP_872579.2:p.(Glu1477Ala)	NC_000017.10:g.65908430A>C	(Likely) benign	1 lab	85110ea025
16:88909567 GALNS C>T	16	88909567	88909567	C	T	GALNS	c.121-330G>A	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909567C>T	(Likely) benign	1 lab	851115bb68
19:47861258 DHX34 C>A	19	47861258	47861258	C	A	DHX34	c.1153C>A	NM_014681.6	NP_055496.2:p.(Leu385Ile)	NC_000019.9:g.47861258C>A	VUS	1 lab	851376f6d3
10:97409288 ALDH18A1 T>A	10	97409288	97409288	T	A	ALDH18A1	c.88+3759A>T	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97409288T>A	(Likely) benign	1 lab	85153d91c0
16:10004720 GRIN2A T>G	16	10004720	10004720	T	G	GRIN2A	c.1008-19763A>C	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.10004720T>G	(Likely) benign	1 lab	8515d39a45
9:135947055 CEL CCCCCCTGT>C	9	135947055	135947063	CCCCCCTGT	C	CEL	c.2167_2174del	NM_001807.6	NP_001798.3:p.(Pro723AlafsTer5)	NC_000009.11:g.135947056_135947063del	(Likely) benign	1 lab	85177479e0
14:20850434 TEP1 C>T	14	20850434	20850434	C	T	TEP1	c.4222G>A	NM_007110.5	NP_009041.2:p.(Gly1408Arg)	NC_000014.8:g.20850434C>T	(Likely) benign	1 lab	851949db6d
5:82837927 VCAN G>A	5	82837927	82837927	G	A	VCAN	c.9105G>A	NM_004385.5	NP_004376.2:p.(Ala3035=)	NC_000005.9:g.82837927G>A	(Likely) benign	1 lab	85196b3ac7
3:49725234 MST1 A>C	3	49725234	49725234	A	C	MST1	c.191T>G	NM_020998.4	NP_066278.3:p.(Val64Gly)	NC_000003.11:g.49725234A>C	(Likely) benign	1 lab	8519797c60
2:61420042 USP34 CT>C	2	61420042	61420043	CT	C	USP34	c.9581del	NM_014709.4	NP_055524.3:p.(Gln3194ArgfsTer28)	NC_000002.11:g.61420043del	VUS	1 lab	851a3e833d
3:9985673 CRELD1 T>C	3	9985673	9985673	T	C	CRELD1	c.1049-376T>C	NM_001077415.3	NP_001070883.2:p.?	NC_000003.11:g.9985673T>C	(Likely) benign	1 lab	851a6b1903
1:16916494 NBPF1 A>C	1	16916494	16916494	A	C	NBPF1	c.178T>G	NM_001405666.3	NP_001392595.1:p.(Tyr60Asp)	NC_000001.10:g.16916494A>C	(Likely) benign	1 lab	851becf402
14:59112587 DACT1 C>CCGAAGCAGTGGT	14	59112587	59112603	C	CCGAAGCAGTGGT	DACT1	c.1140_1151dup	NM_001079520.2	NP_001072988.1:p.(Gln381_Lys384dup)	NC_000014.8:g.59112592_59112603dup	(Likely) benign	1 lab	851cfb2388
4:55100921 PDGFRA Ref too long to show for this DEL>G	4	55100921	55119424	Ref too long to show for this DEL	G	PDGFRA	c.-13+5340_-12-5500del	NM_006206.6	NP_006197.1:p.?	NC_000004.11:g.55100922_55119424del	(Likely) benign	1 lab	249ea852f1
5:112090568 APC A>G	5	112090568	112090568	A	G	APC	c.-18-2A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112090568A>G	VUS	1 lab	851e0aa687
19:17752216 UNC13A G>A	19	17752216	17752216	G	A	UNC13A	c.2622C>T	NM_001080421.3	NP_001073890.2:p.(Ile874=)	NC_000019.9:g.17752216G>A	(Likely) benign	1 lab	851e730df4
19:15288570 NOTCH3 G>A	19	15288570	15288570	G	A	NOTCH3	c.4169C>T	NM_000435.3	NP_000426.2:p.(Ala1390Val)	NC_000019.9:g.15288570G>A	VUS	1 lab	851ef19717
7:157046937 UBE3C G>A	7	157046937	157046937	G	A	UBE3C	c.2884-1G>A	NM_014671.3	NP_055486.2:p.?	NC_000007.13:g.157046937G>A	VUS	1 lab	852042ead7
2:39262562 SOS1 A>G	2	39262562	39262562	A	G	SOS1	c.944T>C	NM_005633.4	NP_005624.2:p.(Leu315Ser)	NC_000002.11:g.39262562A>G	VUS	1 lab	8520f51ec3
4:114204023 ANK2 A>G	4	114204023	114204023	A	G	ANK2	c.2074A>G	NM_001148.6	NP_001139.3:p.(Thr692Ala)	NC_000004.11:g.114204023A>G	VUS	1 lab	85225ce0cf
19:14266163 ADGRL1 G>A	19	14266163	14266163	G	A	ADGRL1	c.3294+8C>T	NM_014921.5	NP_055736.2:p.?	NC_000019.9:g.14266163G>A	(Likely) benign	1 lab	852309e25d
1:38025019 DNALI1 G>C	1	38025019	38025019	G	C	DNALI1	c.319G>C	NM_003462.5	NP_003453.3:p.(Asp107His)	NC_000001.10:g.38025019G>C	VUS	1 lab	85238b78ce
1:108742721 SLC25A24 C>A	1	108742721	108742721	C	A	SLC25A24	c.40G>T	NM_013386.5	NP_037518.3:p.(Ala14Ser)	NC_000001.10:g.108742721C>A	(Likely) benign	1 lab	85253785b5
22:51135976 SHANK3 GAATT>G	22	51135976	51135980	GAATT	G	SHANK3	c.1567-8_1567-5del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135977_51135980del	VUS	1 lab	85256bf153
22:51169208 SHANK3 CG>C	22	51169208	51169211	CG	C	SHANK3	c.4892del	NM_001372044.2	NP_001358973.1:p.(Gly1631AlafsTer8)	NC_000022.10:g.51169211del	(Likely) pathogenic	1 lab	8525908e93
17:36486528 GPR179 G>T	17	36486528	36486528	G	T	GPR179	c.2924C>A	NM_001004334.4	NP_001004334.3:p.(Ala975Asp)	NC_000017.10:g.36486528G>T	(Likely) benign	1 lab	8526797083
19:22363891 ZNF676 A>G	19	22363891	22363891	A	G	ZNF676	c.628T>C	NM_001001411.3	NP_001001411.2:p.(Ser210Pro)	NC_000019.9:g.22363891A>G	(Likely) benign	1 lab	8527250080
1:40235710 BMP8B G>C	1	40235710	40235710	G	C	BMP8B	c.673+4270C>G	NM_001720.5	NP_001711.2:p.?	NC_000001.10:g.40235710G>C	(Likely) benign	1 lab	852757e8e2
16:1492438 CCDC154 C>T	16	1492438	1492438	C	T	CCDC154	c.644G>A	NM_001143980.3	NP_001137452.1:p.(Arg215Gln)	NC_000016.9:g.1492438C>T	(Likely) benign	1 lab	852860d84d
15:51696616 GLDN A>G	15	51696616	51696616	A	G	GLDN	c.1321A>G	NM_181789.4	NP_861454.2:p.(Ser441Gly)	NC_000015.9:g.51696616A>G	(Likely) benign	1 lab	8528835618
16:14042100 ERCC4 G>A	16	14042100	14042100	G	A	ERCC4	c.2647G>A	NM_005236.3	NP_005227.1:p.(Glu883Lys)	NC_000016.9:g.14042100G>A	(Likely) benign	1 lab	85289cd1f5
19:44117552 SRRM5 C>T	19	44117552	44117552	C	T	SRRM5	c.1279C>T	NM_001145641.2	NP_001139113.1:p.(Arg427Ter)	NC_000019.9:g.44117552C>T	VUS	1 lab	852c8c6958
2:25988171 ASXL2 A>G	2	25988171	25988171	A	G	ASXL2	c.775+2281T>C	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25988171A>G	(Likely) benign	1 lab	852cdfa070
21:35144596 ITSN1 A>C	21	35144596	35144596	A	C	ITSN1	c.1274A>C	NM_003024.3	NP_003015.2:p.(Glu425Ala)	NC_000021.8:g.35144596A>C	VUS	1 lab	8574e43014
19:2220101 DOT1L C>T	19	2220101	2220101	C	T	DOT1L	c.2692-6C>T	NM_032482.3	NP_115871.1:p.?	NC_000019.9:g.2220101C>T	(Likely) benign	1 lab	852dd79828
2:27677022 IFT172 G>A	2	27677022	27677022	G	A	IFT172	c.3538C>T	NM_015662.3	NP_056477.1:p.(His1180Tyr)	NC_000002.11:g.27677022G>A	VUS	1 lab	852e046d6a
12:42499653 GXYLT1 C>T	12	42499653	42499653	C	T	GXYLT1	c.831G>A	NM_173601.2	NP_775872.1:p.(Met277Ile)	NC_000012.11:g.42499653C>T	VUS	1 lab	852e8fbd02
9:134001105 NUP214 T>C	9	134001105	134001105	T	C	NUP214	c.14T>C	NM_005085.4	NP_005076.3:p.(Met5Thr)	NC_000009.11:g.134001105T>C	(Likely) benign	1 lab	85304ab56a
11:118376562 KMT2A A>G	11	118376562	118376562	A	G	KMT2A	c.9955A>G	NM_001197104.2	NP_001184033.1:p.(Thr3319Ala)	NC_000011.9:g.118376562A>G	(Likely) benign	1 lab	85312c5b21
10:115364585 NRAP A>G	10	115364585	115364585	A	G	NRAP	c.4010T>C	NM_001261463.1	NP_001248392.1:p.(Met1337Thr)	NC_000010.10:g.115364585A>G	(Likely) benign	1 lab	26037db456
16:2164433 PKD1 C>T	16	2164433	2164433	C	T	PKD1	c.2591G>A	NM_001009944.2	NP_001009944.2:p.(Gly864Asp)	NC_000016.9:g.2164433C>T	(Likely) benign	1 lab	2603c2259a
4:509834 PIGG C>G	4	509834	509834	C	G	PIGG	c.974C>G	NM_001127178.3	NP_001120650.1:p.(Pro325Arg)	NC_000004.11:g.509834C>G	VUS	1 lab	8534a1b8a7
11:6647477 DCHS1 T>A	11	6647477	6647477	T	A	DCHS1	c.6499A>T	NM_003737.4	NP_003728.1:p.(Asn2167Tyr)	NC_000011.9:g.6647477T>A	VUS	1 lab	8536100abe
10:102506019 PAX2 T>A	10	102506019	102506019	T	A	PAX2	c.2T>A	NM_000278.5	NP_000269.3:p.(Met1?)	NC_000010.10:g.102506019T>A	VUS	1 lab	85377592a4
6:43197154 DNPH1 T>C	6	43197154	43197154	T	C	DNPH1	c.41A>G	NM_006443.3	NP_006434.1:p.(Glu14Gly)	NC_000006.11:g.43197154T>C	(Likely) benign	1 lab	853805d6ed
13:84454373 SLITRK1 C>T	13	84454373	84454373	C	T	SLITRK1	c.1270G>A	NM_001281503.2	NP_001268432.1:p.(Asp424Asn)	NC_000013.10:g.84454373C>T	VUS	1 lab	8539510f18
15:93567831 CHD2 TCTC>T	15	93567831	93567837	TCTC	T	CHD2	c.5387_5389del	NM_001271.4	NP_001262.3:p.(Pro1796del)	NC_000015.9:g.93567835_93567837del	VUS	1 lab	853a22d9c6
4:3225760 HTT A>G	4	3225760	3225760	A	G	HTT	c.7667A>G	NM_001388492.1	NP_001375421.1:p.(Gln2556Arg)	NC_000004.11:g.3225760A>G	VUS	1 lab	853ab787d3
1:19557884 EMC1 A>T	1	19557884	19557884	A	T	EMC1	c.1815T>A	NM_015047.3	NP_055862.1:p.(Asn605Lys)	NC_000001.10:g.19557884A>T	VUS	1 lab	853ac0d920
22:37466992 TMPRSS6 G>A	22	37466992	37466992	G	A	TMPRSS6	c.1636C>T	NM_001374504.1	NP_001361433.1:p.(Pro546Ser)	NC_000022.10:g.37466992G>A	(Likely) benign	1 lab	853b70592c
10:119805588 RAB11FIP2 G>A	10	119805588	119805588	G	A	RAB11FIP2	c.87C>T	NM_014904.3	NP_055719.1:p.(Gly29=)	NC_000010.10:g.119805588G>A	VUS	1 lab	853cc31940
17:56288067 MKS1 T>C	17	56288067	56288067	T	C	MKS1	c.977A>G	NM_017777.4	NP_060247.2:p.(Glu326Gly)	NC_000017.10:g.56288067T>C	VUS	1 lab	853d7986ac
17:73491074 TMEM94 GC>G	17	73491074	73491078	GC	G	TMEM94	c.2691del	NM_014738.6	NP_055553.3:p.(Ser898AlafsTer10)	NC_000017.10:g.73491078del	VUS	1 lab	853d8e3300
1:152281408 FLG G>A	1	152281408	152281408	G	A	FLG	c.5954C>T	NM_002016.2	NP_002007.1:p.(Ser1985Phe)	NC_000001.10:g.152281408G>A	(Likely) benign	1 lab	853f71b4bb
8:6299617 MCPH1 A>G	8	6299617	6299617	A	G	MCPH1	c.610A>G	NM_024596.5	NP_078872.3:p.(Asn204Asp)	NC_000008.10:g.6299617A>G	VUS	1 lab	85ce8834e9
7:151935910 KMT2C C>T	7	151935910	151935910	C	T	KMT2C	c.2534G>A	NM_170606.3	NP_733751.2:p.(Gly845Glu)	NC_000007.13:g.151935910C>T	(Likely) benign	1 lab	85405b3b27
9:139370770 SEC16A T>C	9	139370770	139370770	T	C	SEC16A	c.1298A>G	NM_014866.2	NP_055681.1:p.(Asn433Ser)	NC_000009.11:g.139370770T>C	(Likely) benign	1 lab	8540d8ee03
16:2149916 PKD1 A>G	16	2149916	2149916	A	G	PKD1	c.9869T>C	NM_001009944.3	NP_001009944.3:p.(Leu3290Pro)	NC_000016.9:g.2149916A>G	VUS	1 lab	85411bc249
16:2522475 NTN3 A>G	16	2522475	2522475	A	G	NTN3	c.773A>G	NM_006181.3	NP_006172.1:p.(Asn258Ser)	NC_000016.9:g.2522475A>G	VUS	1 lab	854195f447
2:29295081 PCARE T>C	2	29295081	29295081	T	C	PCARE	c.2047A>G	NM_001029883.3	NP_001025054.1:p.(Ser683Gly)	NC_000002.11:g.29295081T>C	(Likely) benign	1 lab	854204b477
16:16248540 ABCC6 C>G	16	16248540	16248540	C	G	ABCC6	c.4153G>C	NM_001171.6	NP_001162.5:p.(Ala1385Pro)	NC_000016.9:g.16248540C>G	VUS	1 lab	85424b4aa3
1:1248216 INTS11 G>A	1	1248216	1248216	G	A	INTS11	c.1245C>T	NM_017871.6	NP_060341.2:p.(Gly415=)	NC_000001.10:g.1248216G>A	VUS	1 lab	85438506c1
20:57561263 NELFCD G>A	20	57561263	57561263	G	A	NELFCD	c.176G>A	NM_198976.4	NP_945327.3:p.(Arg59Lys)	NC_000020.10:g.57561263G>A	VUS	1 lab	854475d778
19:36223242 KMT2B C>A	19	36223242	36223242	C	A	KMT2B	c.5792C>A	NM_014727.3	NP_055542.1:p.(Pro1931His)	NC_000019.9:g.36223242C>A	(Likely) benign	1 lab	8546ed09ff
19:42794535 CIC C>CCTGCTTCCTCCT	19	42794535	42794548	C	CCTGCTTCCTCCT	CIC	c.4344_4355dup	NM_001386298.1	NP_001373227.1:p.(Ser1451_Ser1454dup)	NC_000019.9:g.42794537_42794548dup	VUS	1 lab	8548b13b7e
1:150471037 TARS2 T>G	1	150471037	150471037	T	G	TARS2	c.1298T>G	NM_025150.5	NP_079426.2:p.(Phe433Cys)	NC_000001.10:g.150471037T>G	VUS	1 lab	8548f2a638
20:43850109 SEMG2 G>A	20	43850109	43850109	G	A	SEMG2	c.76+3G>A	NM_003008.3	NP_002999.1:p.?	NC_000020.10:g.43850109G>A	(Likely) benign	1 lab	854a7b3968
4:73942791 ANKRD17 T>C	4	73942791	73942791	T	C	ANKRD17	c.7618A>G	NM_032217.5	NP_115593.3:p.(Met2540Val)	NC_000004.11:g.73942791T>C	(Likely) benign	1 lab	854afe6c40
17:12903596 ELAC2 A>AG	17	12903596	12903598	A	AG	ELAC2	c.1305-6dup	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12903598dup	(Likely) benign	1 lab	854ba8c999
1:36384856 AGO1 G>A	1	36384856	36384856	G	A	AGO1	c.2465+1G>A	NM_012199.5	NP_036331.1:p.?	NC_000001.10:g.36384856G>A	VUS	1 lab	860c3a78e9
17:76823390 USP36 G>A	17	76823390	76823390	G	A	USP36	c.626C>T	NM_001385174.1	NP_001372103.1:p.(Ala209Val)	NC_000017.10:g.76823390G>A	VUS	1 lab	854e589e81
9:139404237 NOTCH1 C>T	9	139404237	139404237	C	T	NOTCH1	c.2917G>A	NM_017617.5	NP_060087.3:p.(Ala973Thr)	NC_000009.11:g.139404237C>T	VUS	1 lab	854ef3e4e7
10:100189239 HPS1 C>T	10	100189239	100189239	C	T	HPS1	c.937+91G>A	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100189239C>T	(Likely) benign	1 lab	8550e06712
16:88782198 PIEZO1 C>T	16	88782198	88782198	C	T	PIEZO1	c.7381G>A	NM_001142864.4	NP_001136336.2:p.(Glu2461Lys)	NC_000016.9:g.88782198C>T	(Likely) benign	1 lab	855133d799
17:8048218 PER1 T>A	17	8048218	8048218	T	A	PER1	c.2312A>T	NM_002616.3	NP_002607.2:p.(Asp771Val)	NC_000017.10:g.8048218T>A	(Likely) benign	1 lab	855449865c
2:166850772 SCN1A A>G	2	166850772	166850772	A	G	SCN1A	c.4736T>C	NM_001165963.4	NP_001159435.1:p.(Val1579Ala)	NC_000002.11:g.166850772A>G	VUS	1 lab	8556228524
10:76788935 KAT6B A>C	10	76788935	76788935	A	C	KAT6B	c.4353A>C	NM_012330.4	NP_036462.2:p.(Glu1451Asp)	NC_000010.10:g.76788935A>C	VUS	1 lab	8556edd380
X:71353986 NHSL2 C>A	X	71353986	71353986	C	A	NHSL2	c.482C>A	NM_001013627.3	NP_001013649.2:p.(Thr161Asn)	NC_000023.10:g.71353986C>A	(Likely) benign	1 lab	8557141793
2:27597588 SNX17 T>C	2	27597588	27597588	T	C	SNX17	c.644T>C	NM_014748.4	NP_055563.1:p.(Met215Thr)	NC_000002.11:g.27597588T>C	VUS	1 lab	857dd828d3
16:72822685 ZFHX3 G>A	16	72822685	72822685	G	A	ZFHX3	c.9490C>T	NM_006885.4	NP_008816.3:p.(Leu3164Phe)	NC_000016.9:g.72822685G>A	VUS	1 lab	8557d753aa
7:103293059 RELN T>C	7	103293059	103293059	T	C	RELN	c.1702A>G	NM_005045.4	NP_005036.2:p.(Met568Val)	NC_000007.13:g.103293059T>C	(Likely) benign	1 lab	8558520a45
16:633104 PIGQ C>T	16	633104	633104	C	T	PIGQ	c.*69C>T	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.633104C>T	VUS	1 lab	8558948c4a
4:85724436 WDFY3 A>C	4	85724436	85724436	A	C	WDFY3	c.2607+7T>G	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85724436A>C	(Likely) benign	1 lab	855ca83ff3
4:152095906 SH3D19 C>T	4	152095906	152095906	C	T	SH3D19	c.1450G>A	NM_001378122.1	NP_001365051.1:p.(Asp484Asn)	NC_000004.11:g.152095906C>T	(Likely) benign	1 lab	855e7bdf45
3:15300504 SH3BP5 G>A	3	15300504	15300504	G	A	SH3BP5	c.723C>T	NM_004844.5	NP_004835.2:p.(Gly241=)	NC_000003.11:g.15300504G>A	VUS	1 lab	855f534816
17:19611823 SLC47A2 G>A	17	19611823	19611823	G	A	SLC47A2	c.532-111C>T	NM_001099646.3	NP_001093116.1:p.?	NC_000017.10:g.19611823G>A	VUS	1 lab	855f866c8b
1:36383191 AGO1 T>G	1	36383191	36383191	T	G	AGO1	c.2029-3T>G	NM_012199.5	NP_036331.1:p.?	NC_000001.10:g.36383191T>G	VUS	1 lab	855ffc78fa
1:63836424 ALG6 CT>C	1	63836424	63836433	CT	C	ALG6	c.-207-9del	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63836433del	(Likely) benign	1 lab	8565d9cd7a
11:134022918 NCAPD3 C>T	11	134022918	134022918	C	T	NCAPD3	c.4418G>A	NM_015261.3	NP_056076.1:p.(Arg1473Gln)	NC_000011.9:g.134022918C>T	(Likely) benign	1 lab	8567dda18c
5:159840905 SLU7 C>T	5	159840905	159840905	C	T	SLU7	c.405+1G>A	NM_006425.5	NP_006416.3:p.?	NC_000005.9:g.159840905C>T	VUS	1 lab	85696a57f2
X:154743653 TMLHE A>G	X	154743653	154743653	A	G	TMLHE	c.632T>C	NM_018196.4	NP_060666.1:p.(Leu211Ser)	NC_000023.10:g.154743653A>G	VUS	1 lab	856b2be071
19:18895073 COMP C>T	19	18895073	18895073	C	T	COMP	c.2015G>A	NM_000095.3	NP_000086.2:p.(Arg672Gln)	NC_000019.9:g.18895073C>T	VUS	1 lab	856bf170d6
19:4543840 SEMA6B C>T	19	4543840	4543840	C	T	SEMA6B	c.2440G>A	NM_032108.4	NP_115484.2:p.(Ala814Thr)	NC_000019.9:g.4543840C>T	VUS	1 lab	856c238bc3
7:15458194 AGMO T>A	7	15458194	15458194	T	A	AGMO	c.598A>T	NM_001004320.2	NP_001004320.1:p.(Ile200Phe)	NC_000007.13:g.15458194T>A	VUS	1 lab	856cd4b561
5:171777385 SH3PXD2B C>T	5	171777385	171777385	C	T	SH3PXD2B	c.994G>A	NM_001017995.3	NP_001017995.1:p.(Asp332Asn)	NC_000005.9:g.171777385C>T	(Likely) benign	1 lab	856d4a9839
1:15707946 FHAD1 A>G	1	15707946	15707946	A	G	FHAD1	c.4021A>G	NM_001391957.1	NP_001378886.1:p.(Arg1341Gly)	NC_000001.10:g.15707946A>G	VUS	1 lab	8570a35519
3:33118640 GLB1 C>CTT	3	33118640	33118641	C	CTT	GLB1	c.76-4436_76-4435insAA	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33118640_33118641insTT	VUS	1 lab	85721e9193
9:123165106 CDK5RAP2 G>A	9	123165106	123165106	G	A	CDK5RAP2	c.5285C>T	NM_018249.6	NP_060719.4:p.(Thr1762Ile)	NC_000009.11:g.123165106G>A	(Likely) benign	1 lab	857433e2bd
21:47545867 COL6A2 G>A	21	47545867	47545867	G	A	COL6A2	c.2138G>A	NM_001849.4	NP_001840.3:p.(Arg713His)	NC_000021.8:g.47545867G>A	VUS	1 lab	8575f8d344
9:131396519 DYNC2I2 G>A	9	131396519	131396519	G	A	DYNC2I2	c.1358C>T	NM_052844.4	NP_443076.2:p.(Ala453Val)	NC_000009.11:g.131396519G>A	(Likely) benign	1 lab	8576f02b79
2:190530129 ASDURF A>C	2	190530129	190530129	A	C	ASDURF	c.172A>C	NM_001353493.2	NP_001340422.1:p.(Asn58His)	NC_000002.11:g.190530129A>C	(Likely) benign	1 lab	85774b5f93
4:3024177 GRK4 TG>T	4	3024177	3024179	TG	T	GRK4	c.970+1del	NM_182982.3	NP_892027.2:p.?	NC_000004.11:g.3024179del	VUS	1 lab	8578632b7b
11:62400660 GANAB C>T	11	62400660	62400660	C	T	GANAB	c.780G>A	NM_198335.4	NP_938149.2:p.(Pro260=)	NC_000011.9:g.62400660C>T	(Likely) benign	1 lab	2606192396
12:49458345 MISSING A>G	12	49458345	49458345	A	G	MISSING				NC_000012.11:g.49458345A>G	VUS	1 lab	85792d080c
10:13161015 OPTN G>A	10	13161015	13161015	G	A	OPTN	c.754G>A	NM_001008212.2	NP_001008213.1:p.(Val252Ile)	NC_000010.10:g.13161015G>A	VUS	1 lab	857960f65e
1:16260963 SPEN C>T	1	16260963	16260963	C	T	SPEN	c.8228C>T	NM_015001.3	NP_055816.2:p.(Ala2743Val)	NC_000001.10:g.16260963C>T	(Likely) benign	1 lab	857bab7459
3:77089989 ROBO2 G>A	3	77089989	77089989	G	A	ROBO2	c.53G>A	NM_001395656.1	NP_001382585.1:p.(Arg18Gln)	NC_000003.11:g.77089989G>A	VUS	1 lab	857c1b93ab
16:2161686 PKD1 CA>C	16	2161686	2161687	CA	C	PKD1	c.3481del	NM_001009944.3	NP_001009944.3:p.(Trp1161GlyfsTer10)	NC_000016.9:g.2161687del	(Likely) pathogenic	1 lab	857ceb1573
12:111758326 CUX2 C>T	12	111758326	111758326	C	T	CUX2	c.2513C>T	NM_015267.4	NP_056082.2:p.(Ala838Val)	NC_000012.11:g.111758326C>T	(Likely) benign	1 lab	857d1fd402
11:67812455 TCIRG1 C>T	11	67812455	67812455	C	T	TCIRG1	c.1051C>T	NM_006019.4	NP_006010.2:p.(Arg351Cys)	NC_000011.9:g.67812455C>T	VUS	1 lab	857d9675f8
2:233351208 ECEL1 CAGCCCGGACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGA>C	2	233351208	233351261	CAGCCCGGACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGA	C	ECEL1	c.110_155del	NM_004826.4	NP_004817.2:p.(Phe37CysfsTer151)	NC_000002.11:g.233351216_233351261del	(Likely) pathogenic	1 lab	857f1c9aa3
1:100342156 AGL A>G	1	100342156	100342156	A	G	AGL	c.1423+3A>G	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100342156A>G	VUS	1 lab	857fdb0314
11:17464257 ABCC8 G>A	11	17464257	17464257	G	A	ABCC8	c.1630+10C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17464257G>A	(Likely) benign	1 lab	858147552a
17:78367285 RNF213 G>A	17	78367285	78367285	G	A	RNF213	c.15611G>A	NM_001256071.3	NP_001243000.2:p.(Arg5204Gln)	NC_000017.10:g.78367285G>A	VUS	1 lab	858187ea89
X:101910388 GPRASP1 C>G	X	101910388	101910388	C	G	GPRASP1	c.1547C>G	NM_001184727.2	NP_001171656.1:p.(Thr516Ser)	NC_000023.10:g.101910388C>G	VUS	1 lab	85822ccca9
16:1825794 EME2 C>T	16	1825794	1825794	C	T	EME2	c.780-4C>T	NM_001257370.2	NP_001244299.1:p.?	NC_000016.9:g.1825794C>T	(Likely) benign	1 lab	858292de26
10:82043722 MAT1A C>T	10	82043722	82043722	C	T	MAT1A	c.242G>A	NM_000429.3	NP_000420.1:p.(Arg81Gln)	NC_000010.10:g.82043722C>T	VUS	1 lab	8583bd6aea
16:11484016 MISSING C>T	16	11484016	11484016	C	T	MISSING				NC_000016.9:g.11484016C>T	VUS	1 lab	8712b725ee
X:26212477 MAGEB6 G>C	X	26212477	26212477	G	C	MAGEB6	c.514G>C	NM_173523.2	NP_775794.2:p.(Gly172Arg)	NC_000023.10:g.26212477G>C	(Likely) benign	1 lab	85843a84b7
21:43187010 RIPK4 G>A	21	43187010	43187010	G	A	RIPK4	c.182+10C>T	NM_020639.3	NP_065690.2:p.?	NC_000021.8:g.43187010G>A	(Likely) benign	1 lab	8585316c7e
10:120933370 PRDX3 G>A	10	120933370	120933370	G	A	PRDX3	c.326C>T	NM_006793.5	NP_006784.1:p.(Pro109Leu)	NC_000010.10:g.120933370G>A	VUS	1 lab	8585eb412b
14:105408837 AHNAK2 G>C	14	105408837	105408837	G	C	AHNAK2	c.12951C>G	NM_138420.4	NP_612429.2:p.(Ile4317Met)	NC_000014.8:g.105408837G>C	VUS	1 lab	8585fc2a7a
5:64859138 PPWD1 A>T	5	64859138	64859138	A	T	PPWD1	c.1A>T	NM_015342.4	NP_056157.1:p.(Met1?)	NC_000005.9:g.64859138A>T	VUS	1 lab	8587919202
16:88872934 CDT1 A>G	16	88872934	88872934	A	G	CDT1	c.974A>G	NM_030928.4	NP_112190.2:p.(Glu325Gly)	NC_000016.9:g.88872934A>G	VUS	1 lab	8587badd7f
6:66063473 EYS C>G	6	66063473	66063473	C	G	EYS	c.1337G>C	NM_001142800.2	NP_001136272.1:p.(Trp446Ser)	NC_000006.11:g.66063473C>G	(Likely) benign	1 lab	85883728b6
14:74988689 LTBP2 G>A	14	74988689	74988689	G	A	LTBP2	c.2713C>T	NM_000428.3	NP_000419.1:p.(Arg905Cys)	NC_000014.8:g.74988689G>A	VUS	1 lab	8589393583
2:166170418 SCN2A C>T	2	166170418	166170418	C	T	SCN2A	c.1183C>T	NM_001040142.2	NP_001035232.1:p.(Arg395Cys)	NC_000002.11:g.166170418C>T	(Likely) pathogenic	1 lab	858b83a0b3
20:3218598 SLC4A11 G>C	20	3218598	3218598	G	C	SLC4A11	c.44-364C>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3218598G>C	(Likely) benign	1 lab	858b887bc4
X:49087414 CACNA1F A>C	X	49087414	49087414	A	C	CACNA1F	c.419T>G	NM_001256789.3	NP_001243718.1:p.(Val140Gly)	NC_000023.10:g.49087414A>C	VUS	1 lab	858fc86cf0
16:10031940 GRIN2A C>T	16	10031940	10031940	C	T	GRIN2A	c.883G>A	NM_001134407.3	NP_001127879.1:p.(Gly295Ser)	NC_000016.9:g.10031940C>T	(Likely) benign	1 lab	85919fe26b
7:44190652 GCK C>T	7	44190652	44190652	C	T	GCK	c.386G>A	NM_000162.5	NP_000153.1:p.(Cys129Tyr)	NC_000007.13:g.44190652C>T	(Likely) pathogenic	1 lab	8592121e2b
4:156850846 CTSO T>C	4	156850846	156850846	T	C	CTSO	c.686A>G	NM_001334.3	NP_001325.1:p.(Asp229Gly)	NC_000004.11:g.156850846T>C	VUS	1 lab	8592d070c9
2:169994021 LRP2 A>AAG	2	169994021	169994044	A	AAG	LRP2	c.13519-20_13519-19dup	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.169994043_169994044dup	(Likely) benign	1 lab	26062c3a9a
19:14262173 ADGRL1 C>T	19	14262173	14262173	C	T	ADGRL1	c.3922G>A	NM_014921.5	NP_055736.2:p.(Val1308Met)	NC_000019.9:g.14262173C>T	(Likely) benign	1 lab	85943c28c7
2:170026248 LRP2 C>T	2	170026248	170026248	C	T	LRP2	c.11461G>A	NM_004525.3	NP_004516.2:p.(Ala3821Thr)	NC_000002.11:g.170026248C>T	VUS	1 lab	859537d6bf
1:160164910 CASQ1 G>C	1	160164910	160164910	G	C	CASQ1	c.574G>C	NM_001231.5	NP_001222.3:p.(Glu192Gln)	NC_000001.10:g.160164910G>C	(Likely) benign	1 lab	260688e33c
8:87460495 WWP1 C>T	8	87460495	87460495	C	T	WWP1	c.2117C>T	NM_007013.4	NP_008944.1:p.(Ser706Phe)	NC_000008.10:g.87460495C>T	VUS	1 lab	8598a2c724
16:3119191 IL32 G>A	16	3119191	3119191	G	A	IL32	c.402G>A	NM_001376923.1	NP_001363852.1:p.(Val134=)	NC_000016.9:g.3119191G>A	(Likely) benign	1 lab	8598d6505f
17:15162441 PMP22 C>A	17	15162441	15162441	C	A	PMP22	c.148G>T	NM_000304.4	NP_000295.1:p.(Val50Phe)	NC_000017.10:g.15162441C>A	VUS	1 lab	8598d7746b
2:33500860 LTBP1 C>T	2	33500860	33500860	C	T	LTBP1	c.2870-8C>T	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33500860C>T	(Likely) benign	1 lab	85995b9883
16:30997073 HSD3B7 C>T	16	30997073	30997073	C	T	HSD3B7	c.94C>T	NM_025193.4	NP_079469.2:p.(Arg32Trp)	NC_000016.9:g.30997073C>T	VUS	1 lab	859af81a87
1:26358982 EXTL1 G>A	1	26358982	26358982	G	A	EXTL1	c.1431+6G>A	NM_004455.3	NP_004446.2:p.?	NC_000001.10:g.26358982G>A	VUS	1 lab	859c29e95d
6:29625032 MOG TTCC>T	6	29625032	29625053	TTCC	T	MOG	c.65_67del	NM_206809.4	NP_996532.2:p.(Leu22del)	NC_000006.11:g.29625051_29625053del	(Likely) benign	1 lab	24a586a418
19:48946717 GRIN2D G>T	19	48946717	48946717	G	T	GRIN2D	c.3534G>T	NM_000836.4	NP_000827.2:p.(Trp1178Cys)	NC_000019.9:g.48946717G>T	VUS	1 lab	859e72d282
16:3900825 CREBBP C>A	16	3900825	3900825	C	A	CREBBP	c.271G>T	NM_004380.3	NP_004371.2:p.(Ala91Ser)	NC_000016.9:g.3900825C>A	(Likely) benign	1 lab	859e793d18
8:145730373 GPT G>A	8	145730373	145730373	G	A	GPT	c.362-8G>A	NM_005309.3	NP_005300.1:p.?	NC_000008.10:g.145730373G>A	(Likely) benign	1 lab	85a4e74f8d
2:232894799 DIS3L2 A>G	2	232894799	232894799	A	G	DIS3L2	c.366+9A>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232894799A>G	(Likely) benign	1 lab	85a5033a99
6:110421870 WASF1 C>T	6	110421870	110421870	C	T	WASF1	c.1535G>A	NM_003931.3	NP_003922.1:p.(Arg512His)	NC_000006.11:g.110421870C>T	VUS	1 lab	85a59dfb4a
12:6705263 CHD4 G>A	12	6705263	6705263	G	A	CHD4	c.1933C>T	NM_001273.5	NP_001264.2:p.(Arg645Trp)	NC_000012.11:g.6705263G>A	VUS	1 lab	85a5a450db
1:151380725 POGZ GA>G	1	151380725	151380736	GA	G	POGZ	c.2235-10del	NM_015100.4	NP_055915.2:p.?	NC_000001.10:g.151380736del	(Likely) benign	1 lab	85a7816c32
2:168115407 XIRP2 C>T	2	168115407	168115407	C	T	XIRP2	c.*1080C>T	NM_152381.6	NP_689594.4:p.?	NC_000002.11:g.168115407C>T	VUS	1 lab	85a8278d13
17:61897463 FTSJ3 C>T	17	61897463	61897463	C	T	FTSJ3	c.2327G>A	NM_017647.4	NP_060117.3:p.(Arg776Gln)	NC_000017.10:g.61897463C>T	VUS	1 lab	85a84785c8
18:19757062 GATA6 A>G	18	19757062	19757062	A	G	GATA6	c.1282A>G	NM_005257.6	NP_005248.2:p.(Ile428Val)	NC_000018.9:g.19757062A>G	VUS	1 lab	85a99054b0
21:43897447 RSPH1 C>CT	21	43897447	43897452	C	CT	RSPH1	c.680dup	NM_080860.4	NP_543136.1:p.(Pro228AlafsTer15)	NC_000021.8:g.43897452dup	VUS	1 lab	85aa96db83
22:18567873 PEX26 G>T	22	18567873	18567873	G	T	PEX26	c.668-5G>T	NM_001127649.3	NP_001121121.1:p.?	NC_000022.10:g.18567873G>T	(Likely) benign	1 lab	85ac073339
15:24922629 NPAP1 G>A	15	24922629	24922629	G	A	NPAP1	c.1615G>A	NM_018958.3	NP_061831.2:p.(Gly539Arg)	NC_000015.9:g.24922629G>A	VUS	1 lab	85ac6f02e0
17:36093738 HNF1B T>C	17	36093738	36093738	T	C	HNF1B	c.621A>G	NM_000458.4	NP_000449.1:p.(Pro207=)	NC_000017.10:g.36093738T>C	(Likely) benign	1 lab	85addc6a85
20:744576 SLC52A3 G>C	20	744576	744576	G	C	SLC52A3	c.639C>G	NM_033409.4	NP_212134.3:p.(Tyr213Ter)	NC_000020.10:g.744576G>C	(Likely) pathogenic	1 lab	859c8d8b02
9:135947049 CEL C>T	9	135947049	135947049	C	T	CEL	c.2160C>T	NM_001807.6	NP_001798.3:p.(Ser720=)	NC_000009.11:g.135947049C>T	(Likely) benign	1 lab	85ae6f1be0
X:154194282 F8 C>T	X	154194282	154194282	C	T	F8	c.1406G>A	NM_000132.3	NP_000123.1:p.(Gly469Glu)	NC_000023.10:g.154194282C>T	VUS	1 lab	260aeb6bc4
9:135946536 CEL G>A	9	135946536	135946536	G	A	CEL	c.1647G>A	NM_001807.6	NP_001798.3:p.(Leu549=)	NC_000009.11:g.135946536G>A	(Likely) benign	1 lab	85b1d5307c
X:9864463 SHROOM2 A>G	X	9864463	9864463	A	G	SHROOM2	c.2515A>G	NM_001649.4	NP_001640.1:p.(Thr839Ala)	NC_000023.10:g.9864463A>G	(Likely) benign	1 lab	85b288c329
5:140907266 DIAPH1 T>TAAAAAAAAAA	5	140907266	140907289	T	TAAAAAAAAAA	DIAPH1	c.3149-12_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907280_140907289dup	(Likely) benign	1 lab	85b3bceeba
4:15964515 FGFBP2 T>A	4	15964515	15964515	T	A	FGFBP2	c.238A>T	NM_031950.4	NP_114156.1:p.(Met80Leu)	NC_000004.11:g.15964515T>A	(Likely) benign	1 lab	85b56cc182
X:9900533 SHROOM2 C>T	X	9900533	9900533	C	T	SHROOM2	c.3210C>T	NM_001649.4	NP_001640.1:p.(Arg1070=)	NC_000023.10:g.9900533C>T	(Likely) benign	1 lab	85b70a6edf
11:61109957 TKFC G>A	11	61109957	61109957	G	A	TKFC	c.680G>A	NM_015533.4	NP_056348.2:p.(Arg227His)	NC_000011.9:g.61109957G>A	VUS	1 lab	85b72abda2
6:157150512 ARID1B G>A	6	157150512	157150512	G	A	ARID1B	c.1943G>A	NM_001374828.1	NP_001361757.1:p.(Arg648Gln)	NC_000006.11:g.157150512G>A	VUS	1 lab	85b94cf29e
14:105452770 CLBA1 T>G	14	105452770	105452770	T	G	CLBA1	c.2T>G	NM_174891.4	NP_777551.2:p.(Met1?)	NC_000014.8:g.105452770T>G	(Likely) benign	1 lab	85b9bd74ff
16:2818170 SRRM2 ATCG>A	16	2818170	2818184	ATCG	A	SRRM2	c.7653_7655del	NM_016333.4	NP_057417.3:p.(Ser2556del)	NC_000016.9:g.2818182_2818184del	VUS	1 lab	85b9f2b260
1:19564554 EMC1 G>A	1	19564554	19564554	G	A	EMC1	c.1169C>T	NM_015047.3	NP_055862.1:p.(Thr390Met)	NC_000001.10:g.19564554G>A	(Likely) benign	1 lab	85bbda9cfc
3:128627911 ACAD9 G>A	3	128627911	128627911	G	A	ACAD9	c.1454G>A	NM_014049.5	NP_054768.2:p.(Gly485Asp)	NC_000003.11:g.128627911G>A	VUS	1 lab	85bbdede37
1:155402672 ASH1L G>A	1	155402672	155402672	G	A	ASH1L	c.5828+5446C>T	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155402672G>A	(Likely) benign	1 lab	85bca1303f
1:152281222 FLG C>T	1	152281222	152281222	C	T	FLG	c.6140G>A	NM_002016.2	NP_002007.1:p.(Ser2047Asn)	NC_000001.10:g.152281222C>T	VUS	1 lab	85bdf77503
22:39911227 MIEF1 C>CCAAT	22	39911227	39911233	C	CCAAT	MIEF1	c.*902_*905dup	NM_019008.6	NP_061881.2:p.?	NC_000022.10:g.39911230_39911233dup	VUS	1 lab	85be90f805
18:18858346 GREB1L A>AAT	18	18858346	18858348	A	AAT	GREB1L	c.-120+35993_-120+35994insTA	NM_001142966.3	NP_001136438.1:p.?	NC_000018.9:g.18858347_18858348insTA	(Likely) benign	1 lab	85bf7f2249
17:67264079 ABCA5 A>AT	17	67264079	67264081	A	AT	ABCA5	c.3144+4dup	NM_172232.4	NP_758424.1:p.?	NC_000017.10:g.67264081dup	VUS	1 lab	85c083f49a
15:64706405 TRIP4 C>T	15	64706405	64706405	C	T	TRIP4	c.1165C>T	NM_016213.5	NP_057297.2:p.(Pro389Ser)	NC_000015.9:g.64706405C>T	VUS	1 lab	85c1ac5c98
19:14211653 PRKACA C>T	19	14211653	14211653	C	T	PRKACA	c.404G>A	NM_002730.4	NP_002721.1:p.(Arg135Gln)	NC_000019.9:g.14211653C>T	VUS	1 lab	85c5439ceb
10:23326290 ARMC3 G>A	10	23326290	23326290	G	A	ARMC3	c.2501G>A	NM_173081.5	NP_775104.2:p.(Arg834Gln)	NC_000010.10:g.23326290G>A	(Likely) benign	1 lab	85c638bfbc
19:40376645 FCGBP T>G	19	40376645	40376645	T	G	FCGBP	c.11777A>C	NM_003890.3	NP_003881.2:p.(Asn3926Thr)	NC_000019.9:g.40376645T>G	(Likely) benign	1 lab	85c80eb830
4:6302667 WFS1 T>C	4	6302667	6302667	T	C	WFS1	c.1145T>C	NM_006005.3	NP_005996.2:p.(Leu382Pro)	NC_000004.11:g.6302667T>C	VUS	1 lab	85c8d00cb6
17:7810928 CHD3 C>G	17	7810928	7810928	C	G	CHD3	c.4934C>G	NM_001005273.3	NP_001005273.1:p.(Ser1645Trp)	NC_000017.10:g.7810928C>G	VUS	1 lab	85cb5e1d7b
16:89603153 SPG7 C>T	16	89603153	89603153	C	T	SPG7	c.1324+4109C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89603153C>T	(Likely) benign	1 lab	24a6c39c58
1:11918837 NPPB A>G	1	11918837	11918837	A	G	NPPB	c.54T>C	NM_002521.3	NP_002512.1:p.(His18=)	NC_000001.10:g.11918837A>G	(Likely) benign	1 lab	85ce00e5da
3:101284669 TRMT10C C>G	3	101284669	101284669	C	G	TRMT10C	c.1044C>G	NM_017819.4	NP_060289.2:p.(Asn348Lys)	NC_000003.11:g.101284669C>G	(Likely) benign	1 lab	85cf1395a8
19:41114182 LTBP4 C>T	19	41114182	41114182	C	T	LTBP4	c.1213C>T	NM_001042545.2	NP_001036010.1:p.(Leu405Phe)	NC_000019.9:g.41114182C>T	VUS	1 lab	85cf1ed8ea
22:28195729 MN1 C>A	22	28195729	28195729	C	A	MN1	c.803G>T	NM_002430.3	NP_002421.3:p.(Gly268Val)	NC_000022.10:g.28195729C>A	VUS	1 lab	861e305123
14:105418267 AHNAK2 C>A	14	105418267	105418267	C	A	AHNAK2	c.3521G>T	NM_138420.4	NP_612429.2:p.(Gly1174Val)	NC_000014.8:g.105418267C>A	(Likely) benign	1 lab	24a8a86088
1:12017014 PLOD1 G>A	1	12017014	12017014	G	A	PLOD1	c.684G>A	NM_000302.4	NP_000293.2:p.(Ala228=)	NC_000001.10:g.12017014G>A	(Likely) benign	1 lab	85cfb0ab79
16:2158461 PKD1 A>C	16	2158461	2158461	A	C	PKD1	c.6707T>G	NM_001009944.3	NP_001009944.3:p.(Phe2236Cys)	NC_000016.9:g.2158461A>C	VUS	1 lab	85d31dad3b
9:135946691 CEL C>A	9	135946691	135946691	C	A	CEL	c.1802C>A	NM_001807.6	NP_001798.3:p.(Ala601Asp)	NC_000009.11:g.135946691C>A	(Likely) benign	1 lab	85d328ca65
19:13397524 CACNA1A G>A	19	13397524	13397524	G	A	CACNA1A	c.3346C>T	NM_001127222.2	NP_001120694.1:p.(Pro1116Ser)	NC_000019.9:g.13397524G>A	VUS	1 lab	85d35c61db
9:135944051 CEL C>T	9	135944051	135944051	C	T	CEL	c.896-8C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135944051C>T	(Likely) benign	1 lab	85d405335b
6:43020391 CUL7 G>A	6	43020391	43020391	G	A	CUL7	c.136C>T	NM_014780.5	NP_055595.2:p.(Arg46Trp)	NC_000006.11:g.43020391G>A	VUS	1 lab	85d4258955
19:623594 POLRMT C>T	19	623594	623594	C	T	POLRMT	c.1150G>A	NM_005035.4	NP_005026.3:p.(Val384Met)	NC_000019.9:g.623594C>T	(Likely) benign	1 lab	85d4bed9e9
15:93563388 CHD2 C>T	15	93563388	93563388	C	T	CHD2	c.5053C>T	NM_001271.4	NP_001262.3:p.(Arg1685Cys)	NC_000015.9:g.93563388C>T	VUS	1 lab	85d615e72a
4:119203150 PRSS12 C>T	4	119203150	119203150	C	T	PRSS12	c.2569G>A	NM_003619.4	NP_003610.2:p.(Gly857Ser)	NC_000004.11:g.119203150C>T	VUS	1 lab	85d726cdfb
6:43410847 ABCC10 A>G	6	43410847	43410847	A	G	ABCC10	c.2366A>G	NM_001198934.2	NP_001185863.1:p.(Glu789Gly)	NC_000006.11:g.43410847A>G	VUS	1 lab	85da3b3a38
12:122835688 CLIP1 T>C	12	122835688	122835688	T	C	CLIP1	c.1371A>G	NM_001247997.2	NP_001234926.1:p.(Gln457=)	NC_000012.11:g.122835688T>C	(Likely) benign	1 lab	85db98dc1e
12:13906270 GRIN2B G>T	12	13906270	13906270	G	T	GRIN2B	c.991C>A	NM_000834.5	NP_000825.2:p.(Gln331Lys)	NC_000012.11:g.13906270G>T	VUS	1 lab	85dc82d9ae
3:129291456 PLXND1 G>T	3	129291456	129291456	G	T	PLXND1	c.3073C>A	NM_015103.3	NP_055918.3:p.(Leu1025Met)	NC_000003.11:g.129291456G>T	(Likely) benign	1 lab	85dc8895c2
8:54870825 RGS20 G>A	8	54870825	54870825	G	A	RGS20	c.538-5G>A	NM_003702.5	NP_003693.2:p.?	NC_000008.10:g.54870825G>A	(Likely) benign	1 lab	85dcaf689a
19:20988852 ZNF66 A>T	19	20988852	20988852	A	T	ZNF66	c.446A>T	NM_001355197.2	NP_001342126.2:p.(Lys149Ile)	NC_000019.9:g.20988852A>T	VUS	1 lab	85dfe8957a
1:12463870 VPS13D T>C	1	12463870	12463870	T	C	VPS13D	c.11882-8T>C	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12463870T>C	(Likely) benign	1 lab	85e0d2c180
9:132375822 C9orf50 C>T	9	132375822	132375822	C	T	C9orf50	c.935G>A	NM_199350.4	NP_955382.3:p.(Arg312Gln)	NC_000009.11:g.132375822C>T	(Likely) benign	1 lab	85e0ed00ee
10:73490334 CDH23 G>A	10	73490334	73490334	G	A	CDH23	c.3688G>A	NM_022124.6	NP_071407.4:p.(Val1230Met)	NC_000010.10:g.73490334G>A	VUS	1 lab	85e1b94ade
9:94486476 ROR2 G>T	9	94486476	94486476	G	T	ROR2	c.2300C>A	NM_004560.4	NP_004551.2:p.(Thr767Asn)	NC_000009.11:g.94486476G>T	VUS	1 lab	85e28678d9
5:127730926 FBN2 G>A	5	127730926	127730926	G	A	FBN2	c.1120C>T	NM_001999.4	NP_001990.2:p.(Arg374Cys)	NC_000005.9:g.127730926G>A	VUS	1 lab	85e2948adc
19:41858744 TGFB1 G>A	19	41858744	41858744	G	A	TGFB1	c.206C>T	NM_000660.7	NP_000651.3:p.(Pro69Leu)	NC_000019.9:g.41858744G>A	VUS	1 lab	85e398b912
16:2162830 PKD1 C>A	16	2162830	2162830	C	A	PKD1	c.3120G>T	NM_001009944.3	NP_001009944.3:p.(Thr1040=)	NC_000016.9:g.2162830C>A	(Likely) benign	1 lab	85e607d00a
19:40149102 LGALS16 A>G	19	40149102	40149102	A	G	LGALS16	c.95A>G	NM_001190441.3	NP_001177370.2:p.(Asn32Ser)	NC_000019.9:g.40149102A>G	VUS	1 lab	85e7982ee1
10:89504954 PAPSS2 G>A	10	89504954	89504954	G	A	PAPSS2	c.1687G>A	NM_001015880.2	NP_001015880.1:p.(Ala563Thr)	NC_000010.10:g.89504954G>A	(Likely) benign	1 lab	85e95925a1
3:167039978 ZBBX C>T	3	167039978	167039978	C	T	ZBBX	c.910G>A	NM_001199201.2	NP_001186130.1:p.(Glu304Lys)	NC_000003.11:g.167039978C>T	(Likely) benign	1 lab	85ec65bdd5
2:96953705 SNRNP200 C>T	2	96953705	96953705	C	T	SNRNP200	c.3261G>A	NM_014014.5	NP_054733.2:p.(Ser1087=)	NC_000002.11:g.96953705C>T	VUS	1 lab	85ecf7249b
22:50965067 TYMP T>G	22	50965067	50965067	T	G	TYMP	c.866A>C	NM_001953.5	NP_001944.1:p.(Glu289Ala)	NC_000022.10:g.50965067T>G	(Likely) pathogenic	1 lab	85ed9587c2
22:40696456 TNRC6B T>C	22	40696456	40696456	T	C	TNRC6B	c.3709-3T>C	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40696456T>C	(Likely) benign	1 lab	85ee914c7d
6:110429737 WASF1 G>C	6	110429737	110429737	G	C	WASF1	c.416C>G	NM_003931.3	NP_003922.1:p.(Pro139Arg)	NC_000006.11:g.110429737G>C	VUS	1 lab	24a8df20a1
21:47546090 COL6A2 G>A	21	47546090	47546090	G	A	COL6A2	c.2361G>A	NM_001849.4	NP_001840.3:p.(Thr787=)	NC_000021.8:g.47546090G>A	(Likely) benign	1 lab	85f22a2992
18:10485498 APCDD1 C>T	18	10485498	10485498	C	T	APCDD1	c.814C>T	NM_153000.5	NP_694545.1:p.(Arg272Trp)	NC_000018.9:g.10485498C>T	(Likely) benign	1 lab	24a94d4500
3:129233375 IFT122 C>T	3	129233375	129233375	C	T	IFT122	c.3131C>T	NM_052989.3	NP_443715.1:p.(Ala1044Val)	NC_000003.11:g.129233375C>T	VUS	1 lab	85f51b091a
16:84120955 MBTPS1 G>C	16	84120955	84120955	G	C	MBTPS1	c.1134+8C>G	NM_003791.4	NP_003782.1:p.?	NC_000016.9:g.84120955G>C	(Likely) benign	1 lab	85f57d2ee1
9:35852826 TMEM8B C>T	9	35852826	35852826	C	T	TMEM8B	c.2178C>T	NM_001042590.4	NP_001036055.2:p.(Phe726=)	NC_000009.11:g.35852826C>T	(Likely) benign	1 lab	85f5e43d76
7:98490412 TRRAP G>T	7	98490412	98490412	G	T	TRRAP	c.366+261G>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98490412G>T	(Likely) benign	1 lab	85f6854dd0
11:105623938 GRIA4 C>T	11	105623938	105623938	C	T	GRIA4	c.479C>T	NM_000829.4	NP_000820.4:p.(Thr160Ile)	NC_000011.9:g.105623938C>T	VUS	1 lab	85f7c72de7
5:13859704 DNAH5 G>T	5	13859704	13859704	G	T	DNAH5	c.4807C>A	NM_001369.3	NP_001360.1:p.(Pro1603Thr)	NC_000005.9:g.13859704G>T	(Likely) benign	1 lab	85f866243b
4:6303076 WFS1 G>A	4	6303076	6303076	G	A	WFS1	c.1554G>A	NM_006005.3	NP_005996.2:p.(Met518Ile)	NC_000004.11:g.6303076G>A	(Likely) benign	1 lab	85f984ec7f
7:121719007 AASS G>GA	7	121719007	121719011	G	GA	AASS	c.2397-4dup	NM_005763.4	NP_005754.2:p.?	NC_000007.13:g.121719011dup	(Likely) benign	1 lab	85fa2b4205
1:176525838 PAPPA2 C>T	1	176525838	176525838	C	T	PAPPA2	c.380C>T	NM_020318.3	NP_064714.2:p.(Ala127Val)	NC_000001.10:g.176525838C>T	(Likely) benign	1 lab	85fcab2933
19:48800333 ODAD1 G>A	19	48800333	48800333	G	A	ODAD1	c.2024C>T	NM_001364171.2	NP_001351100.1:p.(Ser675Leu)	NC_000019.9:g.48800333G>A	(Likely) benign	1 lab	85fd6a702b
4:95575682 PDLIM5 C>T	4	95575682	95575682	C	T	PDLIM5	c.1355C>T	NM_006457.5	NP_006448.5:p.(Thr452Ile)	NC_000004.11:g.95575682C>T	(Likely) benign	1 lab	85fda07f44
3:180337082 CCDC39 G>C	3	180337082	180337082	G	C	CCDC39	c.2230C>G	NM_181426.2	NP_852091.1:p.(Gln744Glu)	NC_000003.11:g.180337082G>C	(Likely) benign	1 lab	85ffc63f15
19:38958369 RYR1 C>T	19	38958369	38958369	C	T	RYR1	c.3298C>T	NM_000540.3	NP_000531.2:p.(Arg1100Cys)	NC_000019.9:g.38958369C>T	VUS	1 lab	85fff9d835
11:61081359 DDB1 G>T	11	61081359	61081359	G	T	DDB1	c.1836C>A	NM_001923.5	NP_001914.3:p.(Phe612Leu)	NC_000011.9:g.61081359G>T	VUS	1 lab	86000f2434
7:129806316 TMEM209 T>C	7	129806316	129806316	T	C	TMEM209	c.1661A>G	NM_032842.4	NP_116231.2:p.(Asn554Ser)	NC_000007.13:g.129806316T>C	VUS	1 lab	8600190c2f
7:44190590 GCK A>T	7	44190590	44190590	A	T	GCK	c.448T>A	NM_000162.5	NP_000153.1:p.(Phe150Ile)	NC_000007.13:g.44190590A>T	VUS	1 lab	8601bf7f5b
1:235606238 TBCE C>T	1	235606238	235606238	C	T	TBCE	c.1399+12C>T	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235606238C>T	(Likely) benign	1 lab	260f9d018b
2:179442244 TTN A>T	2	179442244	179442244	A	T	TTN	c.68825-7T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442244A>T	(Likely) benign	1 lab	86022c4887
17:3563269 CTNS G>A	17	3563269	3563269	G	A	CTNS	c.970G>A	NM_004937.3	NP_004928.2:p.(Asp324Asn)	NC_000017.10:g.3563269G>A	VUS	1 lab	8603d2a269
8:22033697 BMP1 G>T	8	22033697	22033697	G	T	BMP1	c.304G>T	NM_006129.5	NP_006120.1:p.(Gly102Trp)	NC_000008.10:g.22033697G>T	VUS	1 lab	8605eda7b5
3:58406262 PXK G>C	3	58406262	58406262	G	C	PXK	c.1529-4217G>C	NM_017771.5	NP_060241.2:p.?	NC_000003.11:g.58406262G>C	(Likely) benign	1 lab	86063c16a4
19:41077918 SPTBN4 G>A	19	41077918	41077918	G	A	SPTBN4	c.7320-7G>A	NM_020971.3	NP_066022.2:p.?	NC_000019.9:g.41077918G>A	(Likely) benign	1 lab	8606fa293c
7:75070753 POM121C C>G	7	75070753	75070753	C	G	POM121C	c.22G>C	NM_001099415.3	NP_001092885.2:p.(Val8Leu)	NC_000007.13:g.75070753C>G	(Likely) benign	1 lab	8607bac6bc
X:103495262 ESX1 G>A	X	103495262	103495262	G	A	ESX1	c.868C>T	NM_153448.4	NP_703149.1:p.(Arg290Cys)	NC_000023.10:g.103495262G>A	VUS	1 lab	860b100252
4:85731280 WDFY3 T>C	4	85731280	85731280	T	C	WDFY3	c.2105A>G	NM_014991.6	NP_055806.2:p.(Asn702Ser)	NC_000004.11:g.85731280T>C	VUS	1 lab	860b36db75
5:131927654 RAD50 A>G	5	131927654	131927654	A	G	RAD50	c.1721A>G	NM_005732.4	NP_005723.2:p.(Lys574Arg)	NC_000005.9:g.131927654A>G	VUS	1 lab	860c16402c
4:148582193 PRMT9 G>T	4	148582193	148582193	G	T	PRMT9	c.954-4C>A	NM_138364.4	NP_612373.2:p.?	NC_000004.11:g.148582193G>T	(Likely) benign	1 lab	860db3726c
4:103826813 SLC9B1 A>G	4	103826813	103826813	A	G	SLC9B1	c.1196-6T>C	NM_139173.4	NP_631912.3:p.?	NC_000004.11:g.103826813A>G	(Likely) benign	1 lab	860f5e1613
6:149700552 TAB2 G>A	6	149700552	149700552	G	A	TAB2	c.1501G>A	NM_001292034.3	NP_001278963.1:p.(Glu501Lys)	NC_000006.11:g.149700552G>A	(Likely) benign	1 lab	8611d41e8c
6:29455534 MAS1L C>T	6	29455534	29455534	C	T	MAS1L	c.146G>A	NM_052967.2	NP_443199.1:p.(Gly49Asp)	NC_000006.11:g.29455534C>T	(Likely) benign	1 lab	8612619e13
2:237029075 AGAP1 C>T	2	237029075	237029075	C	T	AGAP1	c.2354C>T	NM_001037131.3	NP_001032208.1:p.(Ala785Val)	NC_000002.11:g.237029075C>T	VUS	1 lab	8612cf9bb9
1:46494592 MAST2 G>A	1	46494592	46494592	G	A	MAST2	c.2205G>A	NM_015112.3	NP_055927.2:p.(Gly735=)	NC_000001.10:g.46494592G>A	VUS	1 lab	861349b35a
15:65931908 SLC24A1 A>ACTGAGGC	15	65931908	65931912	A	ACTGAGGC	SLC24A1	c.1945-22_1945-21insAGGCCTG	NM_004727.3	NP_004718.1:p.?	NC_000015.9:g.65931911_65931912insAGGCCTG	(Likely) benign	1 lab	24ad67e6ff
2:233198613 DIS3L2 AATGTGCCCCTGTACAC>A	2	233198613	233198630	AATGTGCCCCTGTACAC	A	DIS3L2	c.2076_2091del	NM_152383.5	NP_689596.4:p.(Val693ThrfsTer22)	NC_000002.11:g.233198615_233198630del	VUS	1 lab	8614ad65c8
19:40741058 AKT2 C>T	19	40741058	40741058	C	T	AKT2	c.1264-4G>A	NM_001626.6	NP_001617.1:p.?	NC_000019.9:g.40741058C>T	(Likely) benign	1 lab	86166c01da
4:6303802 WFS1 G>T	4	6303802	6303802	G	T	WFS1	c.2280G>T	NM_006005.3	NP_005996.2:p.(Leu760=)	NC_000004.11:g.6303802G>T	(Likely) benign	1 lab	8616f733e5
5:176722311 NSD1 T>A	5	176722311	176722311	T	A	NSD1	c.7942T>A	NM_022455.5	NP_071900.2:p.(Ser2648Thr)	NC_000005.9:g.176722311T>A	VUS	1 lab	86184af90f
3:58117746 FLNB G>A	3	58117746	58117746	G	A	FLNB	c.4391-789G>A	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58117746G>A	VUS	1 lab	86197b17af
2:162273513 TBR1 G>C	2	162273513	162273513	G	C	TBR1	c.592G>C	NM_006593.4	NP_006584.1:p.(Gly198Arg)	NC_000002.11:g.162273513G>C	VUS	1 lab	861b2ace96
3:49456742 AMT GAC>G	3	49456742	49456746	GAC	G	AMT	c.645_646del	NM_000481.4	NP_000472.2:p.(Ser216TrpfsTer60)	NC_000003.11:g.49456745_49456746del	(Likely) pathogenic	1 lab	861b50164b
16:30727743 SRCAP C>T	16	30727743	30727743	C	T	SRCAP	c.2760C>T	NM_006662.3	NP_006653.2:p.(Gly920=)	NC_000016.9:g.30727743C>T	(Likely) benign	1 lab	861b6b7c9e
10:105926384 CFAP43 C>T	10	105926384	105926384	C	T	CFAP43	c.2901G>A	NM_025145.7	NP_079421.5:p.(Lys967=)	NC_000010.10:g.105926384C>T	(Likely) benign	1 lab	861c3ec86e
13:109793151 MYO16 T>C	13	109793151	109793151	T	C	MYO16	c.4591T>C	NM_001198950.3	NP_001185879.1:p.(Ser1531Pro)	NC_000013.10:g.109793151T>C	VUS	1 lab	861d1b461a
6:137147461 PEX7 G>A	6	137147461	137147461	G	A	PEX7	c.193G>A	NM_000288.4	NP_000279.1:p.(Asp65Asn)	NC_000006.11:g.137147461G>A	VUS	1 lab	861f00ac3a
6:24502833 ALDH5A1 G>A	6	24502833	24502833	G	A	ALDH5A1	c.437G>A	NM_001080.3	NP_001071.1:p.(Ser146Asn)	NC_000006.11:g.24502833G>A	VUS	1 lab	861f24b46a
12:53343098 KRT18 C>T	12	53343098	53343098	C	T	KRT18	c.141C>T	NM_000224.3	NP_000215.1:p.(Ser47=)	NC_000012.11:g.53343098C>T	VUS	1 lab	861faaff6a
16:88719737 MVD C>T	16	88719737	88719737	C	T	MVD	c.1093G>A	NM_002461.3	NP_002452.1:p.(Gly365Ser)	NC_000016.9:g.88719737C>T	(Likely) benign	1 lab	861fe6ae01
1:117568417 CD101 A>T	1	117568417	117568417	A	T	CD101	c.2715A>T	NM_001256106.3	NP_001243035.1:p.(Gly905=)	NC_000001.10:g.117568417A>T	(Likely) benign	1 lab	86202d1795
22:41527460 EP300 C>T	22	41527460	41527460	C	T	EP300	c.1351C>T	NM_001429.4	NP_001420.2:p.(Pro451Ser)	NC_000022.10:g.41527460C>T	VUS	1 lab	86229d149b
15:40468705 BUB1B A>T	15	40468705	40468705	A	T	BUB1B	c.412A>T	NM_001211.6	NP_001202.5:p.(Met138Leu)	NC_000015.9:g.40468705A>T	(Likely) benign	1 lab	86247d97bc
1:162745920 DDR2 C>T	1	162745920	162745920	C	T	DDR2	c.2049-6C>T	NM_006182.4	NP_006173.2:p.?	NC_000001.10:g.162745920C>T	(Likely) benign	1 lab	862482562f
1:11850891 MTHFR C>T	1	11850891	11850891	C	T	MTHFR	c.1817G>A	NM_005957.5	NP_005948.3:p.(Arg606His)	NC_000001.10:g.11850891C>T	VUS	1 lab	8626fb2d93
15:90320122 MESP2 GGGGCAGGGGCAAGGGCAGGGGC>G	15	90320122	90320144	GGGGCAGGGGCAAGGGCAGGGGC	G	MESP2	c.535_556del	NM_001039958.2	NP_001035047.1:p.(Gly179ArgfsTer295)	NC_000015.9:g.90320123_90320144del	VUS	1 lab	8628e1a3bb
18:34205552 FHOD3 G>A	18	34205552	34205552	G	A	FHOD3	c.1036G>A	NM_025135.5	NP_079411.2:p.(Val346Met)	NC_000018.9:g.34205552G>A	VUS	1 lab	24ae95d6d0
19:15299857 NOTCH3 G>A	19	15299857	15299857	G	A	NOTCH3	c.1321C>T	NM_000435.3	NP_000426.2:p.(Arg441Ter)	NC_000019.9:g.15299857G>A	(Likely) pathogenic	1 lab	8629836b84
11:65304480 SCYL1 CCT>C	11	65304480	65304482	CCT	C	SCYL1	c.1841_1842del	NM_020680.4	NP_065731.3:p.(Pro614ArgfsTer28)	NC_000011.9:g.65304481_65304482del	VUS	1 lab	862b2d9e4e
11:74952161 TPBGL C>T	11	74952161	74952161	C	T	TPBGL	c.67C>T	NM_001195528.2	NP_001182457.1:p.(Pro23Ser)	NC_000011.9:g.74952161C>T	(Likely) benign	1 lab	862c2cef15
13:21237412 IFT88 C>A	13	21237412	21237412	C	A	IFT88	c.2069-225C>A	NM_006531.5	NP_006522.2:p.?	NC_000013.10:g.21237412C>A	VUS	1 lab	862e495b25
3:121516332 IQCB1 TAA>T	3	121516332	121516334	TAA	T	IQCB1	c.767-260_767-259del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121516333_121516334del	(Likely) benign	1 lab	2612fb0983
18:6966253 LAMA1 A>T	18	6966253	6966253	A	T	LAMA1	c.6943T>A	NM_005559.4	NP_005550.2:p.(Tyr2315Asn)	NC_000018.9:g.6966253A>T	VUS	1 lab	8631f44f29
16:15771743 NDE1 A>G	16	15771743	15771743	A	G	NDE1	c.323A>G	NM_017668.3	NP_060138.1:p.(Asp108Gly)	NC_000016.9:g.15771743A>G	VUS	1 lab	863216cb72
20:60640330 TAF4 GCCGGGGCCGGGC>G	20	60640330	60640353	GCCGGGGCCGGGC	G	TAF4	c.525_536del	NM_003185.4	NP_003176.2:p.(Pro184_Gly187del)	NC_000020.10:g.60640342_60640353del	(Likely) benign	1 lab	24b319fba0
9:35806542 NPR2 C>T	9	35806542	35806542	C	T	NPR2	c.2519+7C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35806542C>T	(Likely) benign	1 lab	8633a0778a
17:7797432 CHD3 G>A	17	7797432	7797432	G	A	CHD3	c.925-1G>A	NM_001005273.3	NP_001005273.1:p.?	NC_000017.10:g.7797432G>A	(Likely) pathogenic	1 lab	863589cc40
7:21932056 DNAH11 T>G	7	21932056	21932056	T	G	DNAH11	c.12521T>G	NM_001277115.2	NP_001264044.1:p.(Leu4174Arg)	NC_000007.13:g.21932056T>G	(Likely) benign	1 lab	863845ae10
17:28548781 SLC6A4 T>G	17	28548781	28548781	T	G	SLC6A4	c.196A>C	NM_001045.6	NP_001036.1:p.(Thr66Pro)	NC_000017.10:g.28548781T>G	(Likely) benign	1 lab	863a328ae0
9:71855006 TJP2 C>T	9	71855006	71855006	C	T	TJP2	c.2509C>T	NM_004817.4	NP_004808.2:p.(Arg837Ter)	NC_000009.11:g.71855006C>T	(Likely) pathogenic	1 lab	2615208ef6
16:17228388 XYLT1 G>A	16	17228388	17228388	G	A	XYLT1	c.1969C>T	NM_022166.4	NP_071449.1:p.(Arg657Cys)	NC_000016.9:g.17228388G>A	VUS	1 lab	863a9ff070
19:19414648 SUGP1 G>T	19	19414648	19414648	G	T	SUGP1	c.547C>A	NM_172231.4	NP_757386.2:p.(Pro183Thr)	NC_000019.9:g.19414648G>T	VUS	1 lab	863b54b513
8:70744073 SLCO5A1 G>A	8	70744073	70744073	G	A	SLCO5A1	c.836C>T	NM_030958.3	NP_112220.2:p.(Thr279Ile)	NC_000008.10:g.70744073G>A	VUS	1 lab	863b8fe157
10:124271581 HTRA1 C>T	10	124271581	124271581	C	T	HTRA1	c.1274C>T	NM_002775.5	NP_002766.1:p.(Ala425Val)	NC_000010.10:g.124271581C>T	VUS	1 lab	863cae099b
6:131921170 MED23 C>G	6	131921170	131921170	C	G	MED23	c.2220+8G>C	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131921170C>G	VUS	1 lab	863d2276d1
1:32158399 COL16A1 C>T	1	32158399	32158399	C	T	COL16A1	c.1082G>A	NM_001856.4	NP_001847.3:p.(Cys361Tyr)	NC_000001.10:g.32158399C>T	VUS	1 lab	86409fc288
15:45436392 DUOX1 C>T	15	45436392	45436392	C	T	DUOX1	c.2095C>T	NM_175940.3	NP_787954.1:p.(Arg699Cys)	NC_000015.9:g.45436392C>T	(Likely) benign	1 lab	8642fa6248
16:2158424 PKD1 A>G	16	2158424	2158424	A	G	PKD1	c.6744T>C	NM_001009944.3	NP_001009944.3:p.(Asn2248=)	NC_000016.9:g.2158424A>G	(Likely) benign	1 lab	86430199f1
3:178937072 PIK3CA G>T	3	178937072	178937072	G	T	PIK3CA	c.1746+7G>T	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178937072G>T	VUS	1 lab	864621728c
15:99434856 IGF1R G>A	15	99434856	99434856	G	A	IGF1R	c.943G>A	NM_000875.5	NP_000866.1:p.(Gly315Ser)	NC_000015.9:g.99434856G>A	(Likely) benign	1 lab	8646fd7209
8:22874894 RHOBTB2 G>A	8	22874894	22874894	G	A	RHOBTB2	c.2096G>A	NM_015178.3	NP_055993.2:p.(Arg699Gln)	NC_000008.10:g.22874894G>A	VUS	1 lab	8647cba08b
14:59112828 DACT1 C>T	14	59112828	59112828	C	T	DACT1	c.1376C>T	NM_001079520.2	NP_001072988.1:p.(Pro459Leu)	NC_000014.8:g.59112828C>T	VUS	1 lab	8649b08d07
16:89257886 CDH15 C>G	16	89257886	89257886	C	G	CDH15	c.1375+6C>G	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89257886C>G	(Likely) benign	1 lab	864afde4b0
2:27162954 DPYSL5 G>A	2	27162954	27162954	G	A	DPYSL5	c.1003G>A	NM_020134.4	NP_064519.2:p.(Ala335Thr)	NC_000002.11:g.27162954G>A	VUS	1 lab	864b192246
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer37)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	864b3c9842
5:13830327 DNAH5 G>A	5	13830327	13830327	G	A	DNAH5	c.6062-5C>T	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13830327G>A	(Likely) benign	1 lab	2615afae09
11:14665765 PDE3B C>T	11	14665765	14665765	C	T	PDE3B	c.144C>T	NM_000922.4	NP_000913.2:p.(Phe48=)	NC_000011.9:g.14665765C>T	VUS	1 lab	864d4456d5
16:86546629 FOXF1 G>A	16	86546629	86546629	G	A	FOXF1	c.1078G>A	NM_001451.3	NP_001442.2:p.(Gly360Ser)	NC_000016.9:g.86546629G>A	(Likely) benign	1 lab	86505dc32e
19:1918134 SCAMP4 G>A	19	1918134	1918134	G	A	SCAMP4	c.145G>A	NM_079834.4	NP_524558.1:p.(Ala49Thr)	NC_000019.9:g.1918134G>A	(Likely) benign	1 lab	8650d3f48f
4:4861609 MSX1 G>A	4	4861609	4861609	G	A	MSX1	c.-18G>A	NM_002448.3	NP_002439.2:p.?	NC_000004.11:g.4861609G>A	(Likely) benign	1 lab	26171c1793
11:118919873 HYOU1 C>A	11	118919873	118919873	C	A	HYOU1	c.1849G>T	NM_006389.5	NP_006380.1:p.(Gly617Trp)	NC_000011.9:g.118919873C>A	VUS	1 lab	8654e17405
12:2659171 CACNA1C G>A	12	2659171	2659171	G	A	CACNA1C	c.1453G>A	NM_000719.7	NP_000710.5:p.(Glu485Lys)	NC_000012.11:g.2659171G>A	VUS	1 lab	8657202620
16:30388029 MYL11 G>A	16	30388029	30388029	G	A	MYL11	c.356+10G>A	NM_013292.5	NP_037424.2:p.?	NC_000016.9:g.30388029G>A	(Likely) benign	1 lab	86577e184b
11:118968190 DPAGT1 C>T	11	118968190	118968190	C	T	DPAGT1	c.989G>A	NM_001382.4	NP_001373.2:p.(Gly330Asp)	NC_000011.9:g.118968190C>T	(Likely) pathogenic	1 lab	26185e5a8a
12:75444212 KCNC2 A>G	12	75444212	75444212	A	G	KCNC2	c.1573T>C	NM_139137.4	NP_631875.1:p.(Cys525Arg)	NC_000012.11:g.75444212A>G	VUS	1 lab	8658fe9d26
1:52854890 ORC1 G>A	1	52854890	52854890	G	A	ORC1	c.1186C>T	NM_004153.4	NP_004144.2:p.(Arg396Trp)	NC_000001.10:g.52854890G>A	(Likely) benign	1 lab	8659fcd06d
3:37035143 MLH1 G>C	3	37035143	37035143	G	C	MLH1	c.105G>C	NM_000249.4	NP_000240.1:p.(Met35Ile)	NC_000003.11:g.37035143G>C	VUS	1 lab	865ba8d14d
5:14391003 TRIO C>T	5	14391003	14391003	C	T	TRIO	c.4129-7C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14391003C>T	(Likely) benign	1 lab	865c13928a
8:100791178 VPS13B CG>C	8	100791178	100791179	CG	C	VPS13B	c.7699del	NM_152564.5	NP_689777.3:p.(Val2567Ter)	NC_000008.10:g.100791179del	VUS	1 lab	865dc5b159
18:20577571 RBBP8 ATATT>A	18	20577571	20577581	ATATT	A	RBBP8	c.2029-5_2029-2del	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20577578_20577581del	(Likely) benign	1 lab	865e2a60ba
8:110418573 PKHD1L1 C>T	8	110418573	110418573	C	T	PKHD1L1	c.1679C>T	NM_177531.6	NP_803875.2:p.(Pro560Leu)	NC_000008.10:g.110418573C>T	(Likely) benign	1 lab	865f352d2d
12:56095165 ITGA7 C>A	12	56095165	56095165	C	A	ITGA7	c.415-227G>T	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56095165C>A	VUS	1 lab	865fe81669
2:45169859 SIX3 G>C	2	45169859	45169859	G	C	SIX3	c.616G>C	NM_005413.4	NP_005404.1:p.(Gly206Arg)	NC_000002.11:g.45169859G>C	(Likely) pathogenic	1 lab	86602cc31d
17:39135199 KRT40 G>C	17	39135199	39135199	G	C	KRT40	c.1053C>G	NM_001389244.1	NP_001376173.1:p.(Ile351Met)	NC_000017.10:g.39135199G>C	VUS	1 lab	8661047f3e
16:88800868 PIEZO1 C>T	16	88800868	88800868	C	T	PIEZO1	c.2076G>A	NM_001142864.4	NP_001136336.2:p.(Leu692=)	NC_000016.9:g.88800868C>T	VUS	1 lab	86624c94ba
17:10535846 MYH3 G>C	17	10535846	10535846	G	C	MYH3	c.4903C>G	NM_002470.4	NP_002461.2:p.(Arg1635Gly)	NC_000017.10:g.10535846G>C	VUS	1 lab	8663736ab3
19:55493599 NLRP2 A>G	19	55493599	55493599	A	G	NLRP2	c.533A>G	NM_017852.5	NP_060322.1:p.(Asp178Gly)	NC_000019.9:g.55493599A>G	VUS	1 lab	866408385c
16:70708378 MTSS2 C>A	16	70708378	70708378	C	A	MTSS2	c.884G>T	NM_138383.3	NP_612392.1:p.(Gly295Val)	NC_000016.9:g.70708378C>A	(Likely) benign	1 lab	8664640324
5:42711340 GHR T>C	5	42711340	42711340	T	C	GHR	c.650T>C	NM_000163.5	NP_000154.1:p.(Val217Ala)	NC_000005.9:g.42711340T>C	VUS	1 lab	86648bb17c
X:118725232 NKRF A>G	X	118725232	118725232	A	G	NKRF	c.438T>C	NM_001417890.1	NP_001404819.1:p.(His146=)	NC_000023.10:g.118725232A>G	(Likely) benign	1 lab	866529ff1a
19:54637609 MISSING CTCTG>C	19	54637609	54637615	CTCTG	C	MISSING				NC_000019.9:g.54637612_54637615del	(Likely) benign	1 lab	86657bb4f5
7:11014467 PHF14 C>T	7	11014467	11014467	C	T	PHF14	c.7C>T	NM_001007157.2	NP_001007158.1:p.(Arg3Cys)	NC_000007.13:g.11014467C>T	VUS	1 lab	86662754ee
6:129762148 LAMA2 G>C	6	129762148	129762148	G	C	LAMA2	c.6268+5G>C	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129762148G>C	VUS	1 lab	86678cddd8
X:114251781 IL13RA2 T>C	X	114251781	114251781	T	C	IL13RA2	c.52A>G	NM_000640.3	NP_000631.1:p.(Thr18Ala)	NC_000023.10:g.114251781T>C	VUS	1 lab	8668702ad3
4:1808405 FGFR3 C>A	4	1808405	1808405	C	A	FGFR3	c.2163C>A	NM_000142.5	NP_000133.1:p.(His721Gln)	NC_000004.11:g.1808405C>A	(Likely) benign	1 lab	866900ef72
9:120475095 TLR4 A>G	9	120475095	120475095	A	G	TLR4	c.689A>G	NM_138554.5	NP_612564.1:p.(Lys230Arg)	NC_000009.11:g.120475095A>G	(Likely) benign	1 lab	8669eb1563
2:240066815 HDAC4 C>A	2	240066815	240066815	C	A	HDAC4	c.734-405G>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240066815C>A	VUS	1 lab	866a9dc2c8
X:120006596 CT47B1 T>TG	X	120006596	120006597	T	TG	CT47B1	c.*32-3dup	NM_001145718.3	NP_001139190.1:p.?	NC_000023.10:g.120006597dup	(Likely) benign	1 lab	866ba88975
12:110600832 IFT81 C>T	12	110600832	110600832	C	T	IFT81	c.1150C>T	NM_014055.4	NP_054774.2:p.(Arg384Cys)	NC_000012.11:g.110600832C>T	VUS	1 lab	866e005cb9
19:7152867 INSR C>T	19	7152867	7152867	C	T	INSR	c.2101G>A	NM_000208.4	NP_000199.2:p.(Glu701Lys)	NC_000019.9:g.7152867C>T	VUS	1 lab	866e280d45
7:15425159 AGMO G>C	7	15425159	15425159	G	C	AGMO	c.986C>G	NM_001004320.2	NP_001004320.1:p.(Ser329Ter)	NC_000007.13:g.15425159G>C	VUS	1 lab	866ec1d9c4
X:8763309 FAM9A G>GCTGCTGCTGCTGCGGCTT	X	8763309	8763358	G	GCTGCTGCTGCTGCGGCTT	FAM9A	c.623_640dup	NM_174951.3	NP_777611.1:p.(Glu208_Ala213dup)	NC_000023.10:g.8763341_8763358dup	(Likely) benign	1 lab	866efda4d6
2:239148140 HES6 C>T	2	239148140	239148140	C	T	HES6	c.238G>A	NM_018645.6	NP_061115.2:p.(Gly80Ser)	NC_000002.11:g.239148140C>T	VUS	1 lab	866f048854
15:48818328 FBN1 T>C	15	48818328	48818328	T	C	FBN1	c.987A>G	NM_000138.5	NP_000129.3:p.(Ile329Met)	NC_000015.9:g.48818328T>C	VUS	1 lab	866f72c374
10:94393185 KIF11 G>A	10	94393185	94393185	G	A	KIF11	c.1703-195G>A	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94393185G>A	(Likely) benign	1 lab	86702c82b9
4:103527655 NFKB1 G>A	4	103527655	103527655	G	A	NFKB1	c.1755G>A	NM_003998.4	NP_003989.2:p.(Thr585=)	NC_000004.11:g.103527655G>A	(Likely) benign	1 lab	86706dedd3
6:157099408 ARID1B G>GCAGCAGCAGCAGCAGCAA	6	157099408	157099443	G	GCAGCAGCAGCAGCAGCAA	ARID1B	c.612_629dup	NM_001374828.1	NP_001361757.1:p.(Gln209_Gln214dup)	NC_000006.11:g.157099426_157099443dup	VUS	1 lab	867094650d
17:71387627 SDK2 C>T	17	71387627	71387627	C	T	SDK2	c.3949G>A	NM_001144952.2	NP_001138424.1:p.(Val1317Met)	NC_000017.10:g.71387627C>T	VUS	1 lab	8671276296
15:90213395 PLIN1 A>C	15	90213395	90213395	A	C	PLIN1	c.414T>G	NM_002666.5	NP_002657.3:p.(Thr138=)	NC_000015.9:g.90213395A>C	(Likely) benign	1 lab	8671c77ae2
1:8425901 RERE G>A	1	8425901	8425901	G	A	RERE	c.1418C>T	NM_001042681.2	NP_001036146.1:p.(Thr473Ile)	NC_000001.10:g.8425901G>A	(Likely) benign	1 lab	86749738fe
5:127681205 FBN2 G>A	5	127681205	127681205	G	A	FBN2	c.3061C>T	NM_001999.4	NP_001990.2:p.(Arg1021Cys)	NC_000005.9:g.127681205G>A	VUS	1 lab	8677a751f7
9:80921277 PSAT1 G>A	9	80921277	80921277	G	A	PSAT1	c.445G>A	NM_058179.4	NP_478059.1:p.(Val149Met)	NC_000009.11:g.80921277G>A	VUS	1 lab	867b0e032e
12:132633435 NOC4L ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC>A	12	132633435	132633545	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	A	NOC4L	c.901+18_901+105del	NM_024078.3	NP_076983.1:p.?	NC_000012.11:g.132633458_132633545del	(Likely) benign	1 lab	867b28f6ae
11:61550972 MYRF T>A	11	61550972	61550972	T	A	MYRF	c.3019T>A	NM_001127392.3	NP_001120864.1:p.(Ser1007Thr)	NC_000011.9:g.61550972T>A	VUS	1 lab	867cee591d
12:48379525 COL2A1 G>A	12	48379525	48379525	G	A	COL2A1	c.1666C>T	NM_001844.5	NP_001835.3:p.(Leu556Phe)	NC_000012.11:g.48379525G>A	VUS	1 lab	869d9e5a98
2:25464537 DNMT3A C>CGG	2	25464537	25464539	C	CGG	DNMT3A	c.1974_1975dup	NM_022552.5	NP_072046.2:p.(Arg659ProfsTer47)	NC_000002.11:g.25464538_25464539dup	VUS	1 lab	867d2790e7
22:50962065 SCO2 G>A	22	50962065	50962065	G	A	SCO2	c.776C>T	NM_005138.3	NP_005129.2:p.(Ala259Val)	NC_000022.10:g.50962065G>A	(Likely) benign	1 lab	867d9947d1
1:86822146 ODF2L A>C	1	86822146	86822146	A	C	ODF2L	c.1412T>G	NM_001366781.1	NP_001353710.1:p.(Ile471Ser)	NC_000001.10:g.86822146A>C	VUS	1 lab	86812af8fb
9:136596574 SARDH C>A	9	136596574	136596574	C	A	SARDH	c.543G>T	NM_001134707.2	NP_001128179.1:p.(Val181=)	NC_000009.11:g.136596574C>A	(Likely) benign	1 lab	8681499a7f
8:144906571 PUF60 T>C	8	144906571	144906571	T	C	PUF60	c.25-2A>G	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144906571T>C	VUS	1 lab	86817e0576
11:107431568 ALKBH8 ACTT>A	11	107431568	107431576	ACTT	A	ALKBH8	c.49_51del	NM_138775.3	NP_620130.2:p.(Lys17del)	NC_000011.9:g.107431574_107431576del	VUS	1 lab	86818326b0
2:179397186 TTN A>G	2	179397186	179397186	A	G	TTN	c.104156T>C	NM_001267550.2	NP_001254479.2:p.(Val34719Ala)	NC_000002.11:g.179397186A>G	VUS	1 lab	868193ca21
12:89996981 ATP2B1 G>A	12	89996981	89996981	G	A	ATP2B1	c.2899C>T	NM_001366521.1	NP_001353450.1:p.(Pro967Ser)	NC_000012.11:g.89996981G>A	VUS	1 lab	8685a36ffd
11:6585223 DNHD1 G>A	11	6585223	6585223	G	A	DNHD1	c.10153G>A	NM_144666.3	NP_653267.2:p.(Val3385Met)	NC_000011.9:g.6585223G>A	(Likely) benign	1 lab	8685f3569d
3:43121608 POMGNT2 T>G	3	43121608	43121608	T	G	POMGNT2	c.1316A>C	NM_032806.6	NP_116195.2:p.(Asn439Thr)	NC_000003.11:g.43121608T>G	(Likely) benign	1 lab	8686090f04
16:29810603 KIF22 T>C	16	29810603	29810603	T	C	KIF22	c.778T>C	NM_007317.3	NP_015556.1:p.(Leu260=)	NC_000016.9:g.29810603T>C	(Likely) benign	1 lab	8686fb8af7
5:68800083 OCLN G>C	5	68800083	68800083	G	C	OCLN	c.12G>C	NM_001205254.2	NP_001192183.1:p.(Arg4Ser)	NC_000005.9:g.68800083G>C	VUS	1 lab	86874363be
22:29091121 CHEK2 C>CT	22	29091121	29091122	C	CT	CHEK2	c.1368dup	NM_007194.4	NP_009125.1:p.(Glu457ArgfsTer33)	NC_000022.10:g.29091122dup	(Likely) pathogenic	1 lab	24bf933889
20:62839374 MYT1 AGAAGAG>A	20	62839374	62839394	AGAAGAG	A	MYT1	c.840_845del	NM_004535.3	NP_004526.1:p.(Glu305_Glu306del)	NC_000020.10:g.62839389_62839394del	(Likely) benign	1 lab	86885c6823
12:133235843 POLE A>AGGAGCCCTCACCTCTCCGTGATGGGG	12	133235843	133235890	A	AGGAGCCCTCACCTCTCCGTGATGGGG	POLE	c.3275+12_3275+37dup	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133235865_133235890dup	VUS	1 lab	86896de0ab
12:5842040 ANO2 G>A	12	5842040	5842040	G	A	ANO2	c.1435-244C>T	NM_001364791.2	NP_001351720.1:p.?	NC_000012.11:g.5842040G>A	(Likely) benign	1 lab	868ab7e086
3:48265123 CAMP G>A	3	48265123	48265123	G	A	CAMP	c.122G>A	NM_004345.5	NP_004336.4:p.(Arg41His)	NC_000003.11:g.48265123G>A	(Likely) benign	1 lab	86a1753af3
9:140611141 EHMT1 C>T	9	140611141	140611141	C	T	EHMT1	c.149C>T	NM_024757.5	NP_079033.4:p.(Ala50Val)	NC_000009.11:g.140611141C>T	(Likely) benign	1 lab	868d7afee9
1:235922353 LYST TCAA>T	1	235922353	235922359	TCAA	T	LYST	c.6797_6799del	NM_000081.4	NP_000072.2:p.(Val2266del)	NC_000001.10:g.235922357_235922359del	VUS	1 lab	868da36190
8:140630715 KCNK9 G>A	8	140630715	140630715	G	A	KCNK9	c.911C>T	NM_001282534.2	NP_001269463.1:p.(Ser304Leu)	NC_000008.10:g.140630715G>A	(Likely) benign	1 lab	868e7bef2c
6:21595193 SOX4 C>T	6	21595193	21595193	C	T	SOX4	c.428C>T	NM_003107.3	NP_003098.1:p.(Ser143Phe)	NC_000006.11:g.21595193C>T	VUS	1 lab	8692026b16
10:16992069 CUBN T>G	10	16992069	16992069	T	G	CUBN	c.5011A>C	NM_001081.3	NP_001072.2:p.(Arg1671=)	NC_000010.10:g.16992069T>G	(Likely) benign	1 lab	261b914d4b
5:149357444 SLC26A2 A>C	5	149357444	149357444	A	C	SLC26A2	c.229A>C	NM_000112.4	NP_000103.2:p.(Asn77His)	NC_000005.9:g.149357444A>C	(Likely) benign	1 lab	86938ee5d5
8:42711517 RNF170 T>C	8	42711517	42711517	T	C	RNF170	c.562A>G	NM_030954.4	NP_112216.3:p.(Met188Val)	NC_000008.10:g.42711517T>C	(Likely) benign	1 lab	86977f7350
1:202700057 KDM5B C>T	1	202700057	202700057	C	T	KDM5B	c.4156G>A	NM_006618.5	NP_006609.3:p.(Val1386Met)	NC_000001.10:g.202700057C>T	(Likely) benign	1 lab	869bf11d51
X:123224590 STAG2 A>G	X	123224590	123224590	A	G	STAG2	c.3443A>G	NM_001042750.2	NP_001036215.1:p.(His1148Arg)	NC_000023.10:g.123224590A>G	VUS	1 lab	869cc00d18
9:32480222 RIGI A>C	9	32480222	32480222	A	C	RIGI	c.1769T>G	NM_014314.4	NP_055129.2:p.(Phe590Cys)	NC_000009.11:g.32480222A>C	VUS	1 lab	869d92ba4c
16:49764786 ZNF423 T>G	16	49764786	49764786	T	G	ZNF423	c.197A>C	NM_001379286.1	NP_001366215.1:p.(Asp66Ala)	NC_000016.9:g.49764786T>G	VUS	1 lab	869e3cd867
8:86250621 CA1 A>G	8	86250621	86250621	A	G	CA1	c.95T>C	NM_001128831.4	NP_001122303.1:p.(Val32Ala)	NC_000008.10:g.86250621A>G	VUS	1 lab	86a0cce810
17:65977982 BPTF AAC>A	17	65977982	65978020	AAC	A	BPTF	c.8727-349_8727-348del	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65978019_65978020del	(Likely) benign	1 lab	86a0eadcdc
7:44805818 ZMIZ2 CAG>C	7	44805818	44805820	CAG	C	ZMIZ2	c.2299_2300del	NM_031449.4	NP_113637.3:p.(Ser767HisfsTer6)	NC_000007.13:g.44805819_44805820del	(Likely) benign	1 lab	86a3457e46
17:61995101 GH1 C>T	17	61995101	61995101	C	T	GH1	c.456+19G>A	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995101C>T	(Likely) benign	1 lab	86a61aab7f
20:37198582 RALGAPB C>T	20	37198582	37198582	C	T	RALGAPB	c.4006C>T	NM_020336.4	NP_065069.1:p.(Pro1336Ser)	NC_000020.10:g.37198582C>T	(Likely) benign	1 lab	86a79d430a
19:50365408 PNKP G>A	19	50365408	50365408	G	A	PNKP	c.1126+34C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365408G>A	(Likely) benign	1 lab	86a7cee13f
11:111782349 CRYAB C>T	11	111782349	111782349	C	T	CRYAB	c.100G>A	NM_001289808.2	NP_001276737.1:p.(Glu34Lys)	NC_000011.9:g.111782349C>T	VUS	1 lab	86a7ec3e66
14:31776065 HEATR5A C>T	14	31776065	31776065	C	T	HEATR5A	c.4839G>A	NM_015473.4	NP_056288.2:p.(Leu1613=)	NC_000014.8:g.31776065C>T	VUS	1 lab	86a82933a5
4:55138654 PDGFRA A>G	4	55138654	55138654	A	G	PDGFRA	c.1331A>G	NM_006206.6	NP_006197.1:p.(Asp444Gly)	NC_000004.11:g.55138654A>G	(Likely) benign	1 lab	86a9313ab2
2:47703587 MSH2 C>T	2	47703587	47703587	C	T	MSH2	c.2087C>T	NM_000251.3	NP_000242.1:p.(Pro696Leu)	NC_000002.11:g.47703587C>T	(Likely) pathogenic	1 lab	86aa43009f
1:151378819 POGZ C>T	1	151378819	151378819	C	T	POGZ	c.2692G>A	NM_015100.4	NP_055915.2:p.(Glu898Lys)	NC_000001.10:g.151378819C>T	(Likely) benign	1 lab	86aa867aed
9:35801140 NPR2 C>G	9	35801140	35801140	C	G	NPR2	c.1425C>G	NM_003995.4	NP_003986.2:p.(Phe475Leu)	NC_000009.11:g.35801140C>G	VUS	1 lab	86aea8c813
16:68729786 CDH3 G>A	16	68729786	68729786	G	A	CDH3	c.2240G>A	NM_001793.6	NP_001784.2:p.(Arg747Gln)	NC_000016.9:g.68729786G>A	VUS	1 lab	86af283f60
19:10934468 DNM2 G>A	19	10934468	10934468	G	A	DNM2	c.1786G>A	NM_001005361.3	NP_001005361.1:p.(Val596Ile)	NC_000019.9:g.10934468G>A	VUS	1 lab	86af3a232c
X:40588602 MED14 G>C	X	40588602	40588602	G	C	MED14	c.216-5C>G	NM_004229.4	NP_004220.2:p.?	NC_000023.10:g.40588602G>C	(Likely) benign	1 lab	86b43329c9
16:89759811 CDK10 T>A	16	89759811	89759811	T	A	CDK10	c.544T>A	NM_052988.5	NP_443714.3:p.(Phe182Ile)	NC_000016.9:g.89759811T>A	VUS	1 lab	86b6cfd4e7
3:112727222 RMP64 G>T	3	112727222	112727222	G	T	RMP64	c.1031C>A	NM_015412.4	NP_056227.2:p.(Ser344Tyr)	NC_000003.11:g.112727222G>T	(Likely) benign	1 lab	86b7e18f95
2:179414479 TTN A>G	2	179414479	179414479	A	G	TTN	c.91970T>C	NM_001267550.2	NP_001254479.2:p.(Ile30657Thr)	NC_000002.11:g.179414479A>G	VUS	1 lab	86ba6559b3
22:32017670 PISD G>T	22	32017670	32017670	G	T	PISD	c.523C>A	NM_001326411.2	NP_001313340.1:p.(Pro175Thr)	NC_000022.10:g.32017670G>T	VUS	1 lab	86ba88929f
X:135827431 ARHGEF6 C>T	X	135827431	135827431	C	T	ARHGEF6	c.410G>A	NM_004840.3	NP_004831.1:p.(Gly137Glu)	NC_000023.10:g.135827431C>T	VUS	1 lab	86bb970deb
20:49508560 ADNP A>T	20	49508560	49508560	A	T	ADNP	c.2691T>A	NM_001282531.3	NP_001269460.1:p.(Phe897Leu)	NC_000020.10:g.49508560A>T	(Likely) benign	1 lab	86bd2955d6
17:44117136 KANSL1 G>A	17	44117136	44117136	G	A	KANSL1	c.2135C>T	NM_001193466.2	NP_001180395.1:p.(Pro712Leu)	NC_000017.10:g.44117136G>A	(Likely) benign	1 lab	24c61090c5
16:70819763 VAC14 G>A	16	70819763	70819763	G	A	VAC14	c.265C>T	NM_018052.5	NP_060522.3:p.(Leu89Phe)	NC_000016.9:g.70819763G>A	(Likely) benign	1 lab	86be5741b2
17:78302151 RNF213 G>A	17	78302151	78302151	G	A	RNF213	c.3391G>A	NM_001256071.3	NP_001243000.2:p.(Asp1131Asn)	NC_000017.10:g.78302151G>A	(Likely) benign	1 lab	86bea98611
7:2959196 CARD11 C>G	7	2959196	2959196	C	G	CARD11	c.2320G>C	NM_032415.7	NP_115791.3:p.(Asp774His)	NC_000007.13:g.2959196C>G	VUS	1 lab	86c06355f0
6:55639038 BMP5 C>A	6	55639038	55639038	C	A	BMP5	c.836G>T	NM_021073.4	NP_066551.1:p.(Arg279Leu)	NC_000006.11:g.55639038C>A	VUS	1 lab	86c3392ef1
9:13176167 MPDZ G>C	9	13176167	13176167	G	C	MPDZ	c.2899C>G	NM_001378778.1	NP_001365707.1:p.(Leu967Val)	NC_000009.11:g.13176167G>C	(Likely) benign	1 lab	86c33bdc16
6:51930842 PKHD1 A>T	6	51930842	51930842	A	T	PKHD1	c.812T>A	NM_138694.4	NP_619639.3:p.(Leu271His)	NC_000006.11:g.51930842A>T	(Likely) pathogenic	1 lab	86c3b31cce
1:218520080 TGFB2 C>A	1	218520080	218520080	C	A	TGFB2	c.37C>A	NM_003238.6	NP_003229.1:p.(His13Asn)	NC_000001.10:g.218520080C>A	VUS	1 lab	86c3e0bc0c
10:88854106 GLUD1 G>A	10	88854106	88854106	G	A	GLUD1	c.421C>T	NM_005271.5	NP_005262.1:p.(Gln141Ter)	NC_000010.10:g.88854106G>A	VUS	1 lab	86c4ec99fc
10:89475596 PAPSS2 A>G	10	89475596	89475596	A	G	PAPSS2	c.861A>G	NM_001015880.2	NP_001015880.1:p.(Leu287=)	NC_000010.10:g.89475596A>G	(Likely) benign	1 lab	86c59ea9f5
5:151043765 SPARC G>A	5	151043765	151043765	G	A	SPARC	c.766C>T	NM_003118.4	NP_003109.1:p.(Arg256Cys)	NC_000005.9:g.151043765G>A	VUS	1 lab	86c7befe73
17:4575502 PELP1 TTCC>T	17	4575502	4575510	TTCC	T	PELP1	c.2781_2783del	NM_014389.3	NP_055204.4:p.(Glu930del)	NC_000017.10:g.4575508_4575510del	(Likely) benign	1 lab	86c83c649f
12:121437271 HNF1A G>A	12	121437271	121437271	G	A	HNF1A	c.1624-15G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121437271G>A	(Likely) benign	1 lab	86c874752c
2:73716965 ALMS1 G>T	2	73716965	73716965	G	T	ALMS1	c.7879G>T	NM_001378454.1	NP_001365383.1:p.(Val2627Phe)	NC_000002.11:g.73716965G>T	(Likely) benign	1 lab	86c8fb446a
1:32740403 LCK G>A	1	32740403	32740403	G	A	LCK	c.171G>A	NM_005356.5	NP_005347.3:p.(Pro57=)	NC_000001.10:g.32740403G>A	(Likely) benign	1 lab	261efb3a89
11:28318405 METTL15 C>T	11	28318405	28318405	C	T	METTL15	c.705C>T	NM_001113528.2	NP_001107000.1:p.(Ile235=)	NC_000011.9:g.28318405C>T	(Likely) benign	1 lab	86cb915bc6
2:73613052 ALMS1 AGG>A	2	73613052	73613054	AGG	A	ALMS1	c.57_58del	NM_001378454.1	NP_001365383.1:p.(Glu20GlyfsTer106)	NC_000002.11:g.73613053_73613054del	(Likely) benign	1 lab	86cd38c2ed
22:29107895 CHEK2 A>G	22	29107895	29107895	A	G	CHEK2	c.792+2T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29107895A>G	(Likely) pathogenic	1 lab	86ce6a2b58
14:50251693 NEMF GC>AT	14	50251693	50251694	GC	AT	NEMF	c.3102_3103delinsAT	NM_004713.6	NP_004704.3:p.(Met1034_His1035delinsIleTyr)	NC_000014.8:g.50251693_50251694delinsAT	VUS	1 lab	86ceebeebd
2:179458768 TTN C>T	2	179458768	179458768	C	T	TTN	c.58352G>A	NM_001267550.2	NP_001254479.2:p.(Arg19451His)	NC_000002.11:g.179458768C>T	VUS	1 lab	86d27c0f0f
12:9750665 KLRB1 G>A	12	9750665	9750665	G	A	KLRB1	c.507C>T	NM_002258.3	NP_002249.1:p.(Asn169=)	NC_000012.11:g.9750665G>A	VUS	1 lab	86d351d906
11:126432810 KIRREL3 G>A	11	126432810	126432810	G	A	KIRREL3	c.56-3C>T	NM_032531.4	NP_115920.1:p.?	NC_000011.9:g.126432810G>A	(Likely) benign	1 lab	86d60b07aa
10:50819807 SLC18A3 G>C	10	50819807	50819807	G	C	SLC18A3	c.1021G>C	NM_003055.3	NP_003046.2:p.(Gly341Arg)	NC_000010.10:g.50819807G>C	VUS	1 lab	86d64c1d09
18:77170858 NFATC1 T>C	18	77170858	77170858	T	C	NFATC1	c.583T>C	NM_001278669.2	NP_001265598.1:p.(Tyr195His)	NC_000018.9:g.77170858T>C	VUS	1 lab	86d6c9572c
7:151877987 KMT2C G>C	7	151877987	151877987	G	C	KMT2C	c.6958C>G	NM_170606.3	NP_733751.2:p.(His2320Asp)	NC_000007.13:g.151877987G>C	(Likely) benign	1 lab	86d87e9b72
11:32439181 WT1 T>C	11	32439181	32439181	T	C	WT1	c.907A>G	NM_024426.6	NP_077744.4:p.(Thr303Ala)	NC_000011.9:g.32439181T>C	VUS	1 lab	86da9e6031
9:124091518 GSN C>T	9	124091518	124091518	C	T	GSN	c.1890C>T	NM_198252.3	NP_937895.1:p.(Ile630=)	NC_000009.11:g.124091518C>T	(Likely) benign	1 lab	86dac159c4
19:13347277 CACNA1A G>A	19	13347277	13347277	G	A	CACNA1A	c.4969-733C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13347277G>A	(Likely) benign	1 lab	2620a700d1
9:36966701 PAX5 G>C	9	36966701	36966701	G	C	PAX5	c.625C>G	NM_016734.3	NP_057953.1:p.(Pro209Ala)	NC_000009.11:g.36966701G>C	(Likely) benign	1 lab	86dc299096
21:46101992 TSPEAR G>A	21	46101992	46101992	G	A	TSPEAR	c.82+29356C>T	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46101992G>A	(Likely) benign	1 lab	86dc87c8e2
17:7915795 GUCY2D G>A	17	7915795	7915795	G	A	GUCY2D	c.1984G>A	NM_000180.4	NP_000171.1:p.(Val662Met)	NC_000017.10:g.7915795G>A	(Likely) benign	1 lab	86dcafa2ae
11:47459562 RAPSN G>A	11	47459562	47459562	G	A	RAPSN	c.1203C>T	NM_005055.5	NP_005046.2:p.(Asn401=)	NC_000011.9:g.47459562G>A	(Likely) benign	1 lab	86dcc6a316
8:17814924 PCM1 T>C	8	17814924	17814924	T	C	PCM1	c.1798T>C	NM_006197.4	NP_006188.4:p.(Ser600Pro)	NC_000008.10:g.17814924T>C	(Likely) benign	1 lab	2621f8f399
19:54314161 NLRP12 T>C	19	54314161	54314161	T	C	NLRP12	c.752A>G	NM_144687.4	NP_653288.1:p.(Asn251Ser)	NC_000019.9:g.54314161T>C	(Likely) benign	1 lab	262207e9e1
10:89500973 PAPSS2 A>G	10	89500973	89500973	A	G	PAPSS2	c.1087-19A>G	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89500973A>G	(Likely) benign	1 lab	86e0eca1c4
16:58620604 CNOT1 A>G	16	58620604	58620604	A	G	CNOT1	c.482T>C	NM_016284.5	NP_057368.3:p.(Ile161Thr)	NC_000016.9:g.58620604A>G	VUS	1 lab	877cc39dbb
17:62084039 ICAM2 C>T	17	62084039	62084039	C	T	ICAM2	c.13G>A	NM_001099789.2	NP_001093259.1:p.(Gly5Ser)	NC_000017.10:g.62084039C>T	(Likely) benign	1 lab	86e233e918
19:12760979 MAN2B1 G>A	19	12760979	12760979	G	A	MAN2B1	c.2104C>T	NM_000528.4	NP_000519.2:p.(Arg702Cys)	NC_000019.9:g.12760979G>A	VUS	1 lab	86e34a470f
11:103004351 DYNC2H1 A>G	11	103004351	103004351	A	G	DYNC2H1	c.2021A>G	NM_001377.3	NP_001368.2:p.(Tyr674Cys)	NC_000011.9:g.103004351A>G	VUS	1 lab	86e34a72f6
7:97484744 ASNS C>T	7	97484744	97484744	C	T	ASNS	c.1058G>A	NM_001673.5	NP_001664.3:p.(Arg353Gln)	NC_000007.13:g.97484744C>T	VUS	1 lab	86e3a21158
19:15272275 NOTCH3 G>A	19	15272275	15272275	G	A	NOTCH3	c.6164C>T	NM_000435.3	NP_000426.2:p.(Ala2055Val)	NC_000019.9:g.15272275G>A	(Likely) benign	1 lab	86e4268382
5:90107241 ADGRV1 A>G	5	90107241	90107241	A	G	ADGRV1	c.16078+86A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90107241A>G	(Likely) benign	1 lab	262248101a
14:105350579 CEP170B G>T	14	105350579	105350579	G	T	CEP170B	c.1463G>T	NM_001112726.3	NP_001106197.1:p.(Arg488Leu)	NC_000014.8:g.105350579G>T	(Likely) benign	1 lab	86e52f5249
5:172752967 STC2 G>A	5	172752967	172752967	G	A	STC2	c.198C>T	NM_003714.3	NP_003705.1:p.(Gly66=)	NC_000005.9:g.172752967G>A	(Likely) benign	1 lab	86e56a529d
5:132220789 AFF4 G>A	5	132220789	132220789	G	A	AFF4	c.3122C>T	NM_014423.4	NP_055238.1:p.(Ala1041Val)	NC_000005.9:g.132220789G>A	(Likely) benign	1 lab	86e63911dc
17:12916571 ELAC2 G>A	17	12916571	12916571	G	A	ELAC2	c.512C>T	NM_018127.7	NP_060597.4:p.(Pro171Leu)	NC_000017.10:g.12916571G>A	VUS	1 lab	86ea8a4b43
13:43174900 TNFSF11 A>G	13	43174900	43174900	A	G	TNFSF11	c.400A>G	NM_003701.4	NP_003692.1:p.(Ile134Val)	NC_000013.10:g.43174900A>G	(Likely) benign	1 lab	86ea8cd6b6
14:50616763 SOS2 C>A	14	50616763	50616763	C	A	SOS2	c.2347G>T	NM_006939.4	NP_008870.2:p.(Ala783Ser)	NC_000014.8:g.50616763C>A	VUS	1 lab	86ec132625
2:179454747 TTN T>C	2	179454747	179454747	T	C	TTN	c.61705A>G	NM_001267550.2	NP_001254479.2:p.(Arg20569Gly)	NC_000002.11:g.179454747T>C	(Likely) benign	1 lab	86ed428873
2:86267665 POLR1A T>C	2	86267665	86267665	T	C	POLR1A	c.3590A>G	NM_015425.6	NP_056240.2:p.(Gln1197Arg)	NC_000002.11:g.86267665T>C	(Likely) benign	1 lab	86eefa7871
8:55372388 SOX17 C>T	8	55372388	55372388	C	T	SOX17	c.1078C>T	NM_022454.4	NP_071899.1:p.(Arg360Cys)	NC_000008.10:g.55372388C>T	VUS	1 lab	86ef982f3c
X:76937124 ATRX T>C	X	76937124	76937124	T	C	ATRX	c.3624A>G	NM_000489.6	NP_000480.3:p.(Ile1208Met)	NC_000023.10:g.76937124T>C	(Likely) benign	1 lab	86f0df003a
X:70823488 GCNA A>G	X	70823488	70823488	A	G	GCNA	c.361A>G	NM_052957.5	NP_443189.1:p.(Ile121Val)	NC_000023.10:g.70823488A>G	(Likely) benign	1 lab	86f13fcef0
X:41555836 GPR34 C>T	X	41555836	41555836	C	T	GPR34	c.950C>T	NM_001097579.2	NP_001091048.1:p.(Ser317Phe)	NC_000023.10:g.41555836C>T	VUS	1 lab	86f2ba3d2e
6:63990018 LGSN A>G	6	63990018	63990018	A	G	LGSN	c.1438T>C	NM_016571.3	NP_057655.2:p.(Phe480Leu)	NC_000006.11:g.63990018A>G	VUS	1 lab	86f368d28e
22:26166115 MYO18B G>C	22	26166115	26166115	G	C	MYO18B	c.1551G>C	NM_032608.7	NP_115997.5:p.(Trp517Cys)	NC_000022.10:g.26166115G>C	VUS	1 lab	86f382144b
2:33540273 LTBP1 G>A	2	33540273	33540273	G	A	LTBP1	c.3667G>A	NM_206943.4	NP_996826.3:p.(Gly1223Ser)	NC_000002.11:g.33540273G>A	VUS	1 lab	86f3d23928
2:128178915 PROC G>A	2	128178915	128178915	G	A	PROC	c.127G>A	NM_000312.4	NP_000303.1:p.(Ala43Thr)	NC_000002.11:g.128178915G>A	VUS	1 lab	86f56322ac
20:49508046 ADNP T>C	20	49508046	49508046	T	C	ADNP	c.3205A>G	NM_001282531.3	NP_001269460.1:p.(Ile1069Val)	NC_000020.10:g.49508046T>C	(Likely) benign	1 lab	86f64d0a69
18:24039893 KCTD1 G>GA	18	24039893	24039903	G	GA	KCTD1	c.2134-5dup	NM_001142730.3	NP_001136202.1:p.?	NC_000018.9:g.24039903dup	(Likely) benign	1 lab	86f7954248
14:105408167 AHNAK2 C>T	14	105408167	105408167	C	T	AHNAK2	c.13621G>A	NM_138420.4	NP_612429.2:p.(Gly4541Ser)	NC_000014.8:g.105408167C>T	VUS	1 lab	86f88ea68a
X:138867387 ATP11C T>C	X	138867387	138867387	T	C	ATP11C	c.1664A>G	NM_001353812.2	NP_001340741.2:p.(Glu555Gly)	NC_000023.10:g.138867387T>C	(Likely) benign	1 lab	86f9ecfe2c
6:166721108 PRR18 G>T	6	166721108	166721108	G	T	PRR18	c.523C>A	NM_175922.4	NP_787118.2:p.(Leu175Ile)	NC_000006.11:g.166721108G>T	(Likely) benign	1 lab	86fa069e32
9:140079512 ANAPC2 C>T	9	140079512	140079512	C	T	ANAPC2	c.901G>A	NM_013366.4	NP_037498.1:p.(Gly301Ser)	NC_000009.11:g.140079512C>T	(Likely) benign	1 lab	86fa9db5a0
8:144996977 PLEC G>A	8	144996977	144996977	G	A	PLEC	c.7120C>T	NM_201384.3	NP_958786.1:p.(Arg2374Trp)	NC_000008.10:g.144996977G>A	VUS	1 lab	86fb48dd34
2:73678819 ALMS1 A>G	2	73678819	73678819	A	G	ALMS1	c.5165A>G	NM_001378454.1	NP_001365383.1:p.(Tyr1722Cys)	NC_000002.11:g.73678819A>G	VUS	1 lab	86fcbe05f4
17:42989055 GFAP C>T	17	42989055	42989055	C	T	GFAP	c.891G>A	NM_002055.5	NP_002046.1:p.(Glu297=)	NC_000017.10:g.42989055C>T	VUS	1 lab	86fde35c68
16:3820584 CREBBP G>A	16	3820584	3820584	G	A	CREBBP	c.2867C>T	NM_004380.3	NP_004371.2:p.(Pro956Leu)	NC_000016.9:g.3820584G>A	VUS	1 lab	86fe1513b9
1:1181944 C1QTNF12 T>TG	1	1181944	1181950	T	TG	C1QTNF12	c.126dup	NM_001014980.3	NP_001014980.1:p.(Asn43GlnfsTer25)	NC_000001.10:g.1181950dup	(Likely) benign	1 lab	86fe3b07d7
3:36899149 TRANK1 C>A	3	36899149	36899149	C	A	TRANK1	c.2064G>T	NM_001329998.2	NP_001316927.1:p.(Val688=)	NC_000003.11:g.36899149C>A	(Likely) benign	1 lab	86ff69a01a
22:50506901 MLC1 T>A	22	50506901	50506901	T	A	MLC1	c.855A>T	NM_015166.4	NP_055981.1:p.(Arg285Ser)	NC_000022.10:g.50506901T>A	VUS	1 lab	86ffee6c8f
19:36321997 NPHS1 G>T	19	36321997	36321997	G	T	NPHS1	c.3439C>A	NM_004646.4	NP_004637.1:p.(Pro1147Thr)	NC_000019.9:g.36321997G>T	VUS	1 lab	8701b6dccd
17:29541557 NF1 T>G	17	29541557	29541557	T	G	NF1	c.1481T>G	NM_000267.3	NP_000258.1:p.(Leu494Trp)	NC_000017.10:g.29541557T>G	VUS	1 lab	24c9f82253
1:160100061 ATP1A2 G>T	1	160100061	160100061	G	T	ATP1A2	c.1631G>T	NM_000702.4	NP_000693.1:p.(Gly544Val)	NC_000001.10:g.160100061G>T	VUS	1 lab	87048713e6
19:39096361 MAP4K1 G>T	19	39096361	39096361	G	T	MAP4K1	c.1210C>A	NM_001042600.3	NP_001036065.1:p.(Arg404Ser)	NC_000019.9:g.39096361G>T	VUS	1 lab	87058ee734
5:112178453 APC G>A	5	112178453	112178453	G	A	APC	c.7162G>A	NM_000038.6	NP_000029.2:p.(Ala2388Thr)	NC_000005.9:g.112178453G>A	VUS	1 lab	8705f61720
8:21986647 HR T>C	8	21986647	21986647	T	C	HR	c.37A>G	NM_005144.5	NP_005135.2:p.(Thr13Ala)	NC_000008.10:g.21986647T>C	(Likely) benign	1 lab	8706622127
12:51034594 DIP2B G>A	12	51034594	51034594	G	A	DIP2B	c.260G>A	NM_173602.3	NP_775873.2:p.(Arg87Gln)	NC_000012.11:g.51034594G>A	(Likely) benign	1 lab	870c3534f1
19:1467773 APC2 G>A	19	1467773	1467773	G	A	APC2	c.4473G>A	NM_005883.3	NP_005874.1:p.(Gly1491=)	NC_000019.9:g.1467773G>A	(Likely) benign	1 lab	87175459c9
X:7811911 VCX GAGGTGGAGGAACCACTGAGTCAGGAGAGCC>G	X	7811911	7811970	GAGGTGGAGGAACCACTGAGTCAGGAGAGCC	G	VCX	c.505_534del	NM_001393662.1	NP_001380591.1:p.(Gln169_Ser178del)	NC_000023.10:g.7811941_7811970del	VUS	1 lab	870cbd2de5
19:11170541 SMARCA4 A>G	19	11170541	11170541	A	G	SMARCA4	c.4748A>G	NM_001128844.3	NP_001122316.1:p.(Glu1583Gly)	NC_000019.9:g.11170541A>G	VUS	1 lab	24ce7fe9b4
3:53259798 TKT C>T	3	53259798	53259798	C	T	TKT	c.1846G>A	NM_001064.4	NP_001055.1:p.(Val616Met)	NC_000003.11:g.53259798C>T	VUS	1 lab	870e7fe7e1
10:89475518 PAPSS2 C>T	10	89475518	89475518	C	T	PAPSS2	c.783C>T	NM_001015880.2	NP_001015880.1:p.(Ser261=)	NC_000010.10:g.89475518C>T	(Likely) benign	1 lab	870ef1cc17
4:113353696 ALPK1 A>AT	4	113353696	113353697	A	AT	ALPK1	c.2994dup	NM_025144.4	NP_079420.3:p.(Thr999TyrfsTer5)	NC_000004.11:g.113353697dup	(Likely) benign	1 lab	870f879194
6:143818527 FUCA2 T>C	6	143818527	143818527	T	C	FUCA2	c.1262A>G	NM_032020.5	NP_114409.2:p.(Glu421Gly)	NC_000006.11:g.143818527T>C	VUS	1 lab	87103cb6ed
19:17017782 CPAMD8 C>T	19	17017782	17017782	C	T	CPAMD8	c.4007G>A	NM_015692.5	NP_056507.3:p.(Arg1336His)	NC_000019.9:g.17017782C>T	VUS	1 lab	87104e8016
3:12458630 PPARG T>C	3	12458630	12458630	T	C	PPARG	c.1157T>C	NM_138711.6	NP_619725.3:p.(Ile386Thr)	NC_000003.11:g.12458630T>C	VUS	1 lab	87104ff7f1
9:742387 KANK1 C>T	9	742387	742387	C	T	KANK1	c.3879C>T	NM_015158.4	NP_055973.2:p.(Asn1293=)	NC_000009.11:g.742387C>T	(Likely) benign	1 lab	26245f0f40
3:180334482 CCDC39 C>T	3	180334482	180334482	C	T	CCDC39	c.2408G>A	NM_181426.2	NP_852091.1:p.(Cys803Tyr)	NC_000003.11:g.180334482C>T	(Likely) benign	1 lab	8712cc0204
11:45986893 PHF21A C>CT	11	45986893	45986894	C	CT	PHF21A	c.968dup	NM_001352027.3	NP_001338956.1:p.(Leu324AlafsTer2)	NC_000011.9:g.45986894dup	(Likely) pathogenic	1 lab	8712f62e8f
16:2167574 PKD1 TCCTGCG>T	16	2167574	2167585	TCCTGCG	T	PKD1	c.1295_1300del	NM_001009944.3	NP_001009944.3:p.(Ala432_Gln433del)	NC_000016.9:g.2167580_2167585del	(Likely) pathogenic	1 lab	8715f8d779
10:68687851 CTNNA3 C>G	10	68687851	68687851	C	G	CTNNA3	c.1048-152569G>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68687851C>G	VUS	1 lab	87166c6b6b
19:12776600 MAN2B1 G>A	19	12776600	12776600	G	A	MAN2B1	c.179C>T	NM_000528.4	NP_000519.2:p.(Pro60Leu)	NC_000019.9:g.12776600G>A	VUS	1 lab	8717bc3f33
2:152371335 NEB G>A	2	152371335	152371335	G	A	NEB	c.23013C>T	NM_001164508.2	NP_001157980.2:p.(Ser7671=)	NC_000002.11:g.152371335G>A	VUS	1 lab	8718049ce7
12:48374717 COL2A1 G>A	12	48374717	48374717	G	A	COL2A1	c.2498C>T	NM_001844.5	NP_001835.3:p.(Ala833Val)	NC_000012.11:g.48374717G>A	VUS	1 lab	8718d28898
X:77528263 CYSLTR1 C>G	X	77528263	77528263	C	G	CYSLTR1	c.981G>C	NM_006639.4	NP_006630.1:p.(Leu327Phe)	NC_000023.10:g.77528263C>G	VUS	1 lab	8719c8bc4d
15:72958366 GOLGA6B T>G	15	72958366	72958366	T	G	GOLGA6B	c.1851T>G	NM_018652.5	NP_061122.4:p.(His617Gln)	NC_000015.9:g.72958366T>G	VUS	1 lab	871a239bb8
12:9013749 A2ML1 G>A	12	9013749	9013749	G	A	A2ML1	c.3358G>A	NM_144670.6	NP_653271.3:p.(Gly1120Ser)	NC_000012.11:g.9013749G>A	VUS	1 lab	871a8ca558
8:145617657 ADCK5 CAGACTA>C	8	145617657	145617663	CAGACTA	C	ADCK5	c.1268-2_1271del	NM_174922.5	NP_777582.4:p.?	NC_000008.10:g.145617658_145617663del	(Likely) benign	1 lab	871b446a43
X:152710253 TREX2 G>A	X	152710253	152710253	G	A	TREX2	c.636C>T	NM_080701.4	NP_542432.2:p.(Ala212=)	NC_000023.10:g.152710253G>A	(Likely) benign	1 lab	871b7e8f0f
4:1804702 FGFR3 G>A	4	1804702	1804702	G	A	FGFR3	c.931-717G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804702G>A	(Likely) benign	1 lab	871c3c9784
19:40405928 FCGBP C>G	19	40405928	40405928	C	G	FCGBP	c.4918G>C	NM_003890.3	NP_003881.2:p.(Val1640Leu)	NC_000019.9:g.40405928C>G	VUS	1 lab	87b19051c4
16:14721018 PARN T>C	16	14721018	14721018	T	C	PARN	c.272A>G	NM_002582.4	NP_002573.1:p.(Tyr91Cys)	NC_000016.9:g.14721018T>C	(Likely) pathogenic	1 lab	2628701765
12:48238711 VDR G>A	12	48238711	48238711	G	A	VDR	c.1102C>T	NM_000376.3	NP_000367.1:p.(Arg368Cys)	NC_000012.11:g.48238711G>A	VUS	1 lab	871e37de58
16:2142112 PKD1 C>G	16	2142112	2142112	C	G	PKD1	c.11347G>C	NM_001009944.3	NP_001009944.3:p.(Val3783Leu)	NC_000016.9:g.2142112C>G	VUS	1 lab	871f559bb2
11:124739340 ROBO3 G>C	11	124739340	124739340	G	C	ROBO3	c.488-6G>C	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124739340G>C	(Likely) benign	1 lab	871f9db448
14:59112382 DACT1 G>C	14	59112382	59112382	G	C	DACT1	c.930G>C	NM_001079520.2	NP_001072988.1:p.(Gln310His)	NC_000014.8:g.59112382G>C	(Likely) benign	1 lab	8720dd4748
20:50407042 SALL4 C>A	20	50407042	50407042	C	A	SALL4	c.1980G>T	NM_020436.5	NP_065169.1:p.(Glu660Asp)	NC_000020.10:g.50407042C>A	(Likely) benign	1 lab	872167c3b5
17:70117815 SOX9 G>C	17	70117815	70117815	G	C	SOX9	c.283G>C	NM_000346.4	NP_000337.1:p.(Val95Leu)	NC_000017.10:g.70117815G>C	VUS	1 lab	8722cb0cc4
12:100706241 SCYL2 A>G	12	100706241	100706241	A	G	SCYL2	c.662A>G	NM_017988.6	NP_060458.3:p.(Asn221Ser)	NC_000012.11:g.100706241A>G	(Likely) benign	1 lab	87264b9261
18:31325010 ASXL3 C>T	18	31325010	31325010	C	T	ASXL3	c.5198C>T	NM_030632.3	NP_085135.1:p.(Ala1733Val)	NC_000018.9:g.31325010C>T	(Likely) benign	1 lab	872650a310
1:86499587 COL24A1 C>A	1	86499587	86499587	C	A	COL24A1	c.1970G>T	NM_152890.7	NP_690850.2:p.(Gly657Val)	NC_000001.10:g.86499587C>A	VUS	1 lab	8727a5d01c
17:65928105 BPTF A>G	17	65928105	65928105	A	G	BPTF	c.6229A>G	NM_182641.4	NP_872579.2:p.(Ile2077Val)	NC_000017.10:g.65928105A>G	(Likely) benign	1 lab	8728e0d437
19:15366380 BRD4 T>C	19	15366380	15366380	T	C	BRD4	c.1775A>G	NM_001379291.1	NP_001366220.1:p.(Lys592Arg)	NC_000019.9:g.15366380T>C	(Likely) benign	1 lab	8729427fe7
14:24769962 NOP9 G>A	14	24769962	24769962	G	A	NOP9	c.596G>A	NM_174913.3	NP_777573.1:p.(Gly199Glu)	NC_000014.8:g.24769962G>A	VUS	1 lab	872b3fd97f
20:34022104 GDF5 T>C	20	34022104	34022104	T	C	GDF5	c.1109A>G	NM_000557.5	NP_000548.2:p.(Tyr370Cys)	NC_000020.10:g.34022104T>C	VUS	1 lab	872d0ee937
2:209113221 IDH1 T>A	2	209113221	209113221	T	A	IDH1	c.286A>T	NM_005896.4	NP_005887.2:p.(Asn96Tyr)	NC_000002.11:g.209113221T>A	VUS	1 lab	872d9d41fc
22:38054831 PDXP C>G	22	38054831	38054831	C	G	PDXP	c.42C>G	NM_020315.5	NP_064711.1:p.(Asp14Glu)	NC_000022.10:g.38054831C>G	(Likely) benign	1 lab	872e9c1eed
X:54780396 ITIH6 T>C	X	54780396	54780396	T	C	ITIH6	c.3205A>G	NM_198510.3	NP_940912.1:p.(Thr1069Ala)	NC_000023.10:g.54780396T>C	(Likely) benign	1 lab	87322c8a42
16:88872512 CDT1 G>A	16	88872512	88872512	G	A	CDT1	c.916G>A	NM_030928.4	NP_112190.2:p.(Val306Ile)	NC_000016.9:g.88872512G>A	(Likely) benign	1 lab	87327062cb
X:68060447 EFNB1 G>T	X	68060447	68060447	G	T	EFNB1	c.991G>T	NM_004429.5	NP_004420.1:p.(Val331Phe)	NC_000023.10:g.68060447G>T	VUS	1 lab	87327db081
8:52469399 PXDNL C>T	8	52469399	52469399	C	T	PXDNL	c.380+1G>A	NM_144651.5	NP_653252.4:p.?	NC_000008.10:g.52469399C>T	(Likely) benign	1 lab	8733035ce7
17:79891211 PYCR1 G>A	17	79891211	79891211	G	A	PYCR1	c.839C>T	NM_006907.4	NP_008838.2:p.(Ala280Val)	NC_000017.10:g.79891211G>A	VUS	1 lab	8735054aa4
20:31372582 DNMT3B G>A	20	31372582	31372582	G	A	DNMT3B	c.223G>A	NM_006892.4	NP_008823.1:p.(Asp75Asn)	NC_000020.10:g.31372582G>A	VUS	1 lab	873687a9ac
16:84213236 TAF1C TCAGCCACTGGCTG>T	16	84213236	84213254	TCAGCCACTGGCTG	T	TAF1C	c.1830_1842del	NM_001243156.2	NP_001230085.2:p.(Cys610Ter)	NC_000016.9:g.84213242_84213254del	VUS	1 lab	87373cd01b
9:139391598 NOTCH1 G>A	9	139391598	139391598	G	A	NOTCH1	c.6593C>T	NM_017617.5	NP_060087.3:p.(Ser2198Leu)	NC_000009.11:g.139391598G>A	VUS	1 lab	87446cbd13
3:180377470 CCDC39 C>T	3	180377470	180377470	C	T	CCDC39	c.604G>A	NM_181426.2	NP_852091.1:p.(Ala202Thr)	NC_000003.11:g.180377470C>T	(Likely) benign	1 lab	8737a00068
17:45000493 GOSR2 A>AG	17	45000493	45000499	A	AG	GOSR2	c.-60dup	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45000499dup	(Likely) benign	1 lab	262c27dfef
3:12977981 IQSEC1 C>T	3	12977981	12977981	C	T	IQSEC1	c.535G>A	NM_001134382.3	NP_001127854.1:p.(Glu179Lys)	NC_000003.11:g.12977981C>T	VUS	1 lab	8739e76746
9:123737148 C5 A>G	9	123737148	123737148	A	G	C5	c.3926T>C	NM_001735.2	NP_001726.2:p.(Leu1309Ser)	NC_000009.11:g.123737148A>G	VUS	1 lab	262fdebc60
6:35423858 FANCE C>T	6	35423858	35423858	C	T	FANCE	c.583C>T	NM_021922.3	NP_068741.1:p.(Gln195Ter)	NC_000006.11:g.35423858C>T	(Likely) pathogenic	1 lab	873d728dd5
19:48801336 ODAD1 C>T	19	48801336	48801336	C	T	ODAD1	c.1423G>A	NM_001364171.2	NP_001351100.1:p.(Asp475Asn)	NC_000019.9:g.48801336C>T	(Likely) benign	1 lab	873d842a34
18:7037600 LAMA1 G>T	18	7037600	7037600	G	T	LAMA1	c.1714C>A	NM_005559.4	NP_005550.2:p.(Pro572Thr)	NC_000018.9:g.7037600G>T	VUS	1 lab	87414d91ce
9:140685661 EHMT1 T>G	9	140685661	140685661	T	G	EHMT1	c.2505+239T>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140685661T>G	(Likely) benign	1 lab	8741849e3c
17:48264220 COL1A1 T>C	17	48264220	48264220	T	C	COL1A1	c.3595A>G	NM_000088.4	NP_000079.2:p.(Ser1199Gly)	NC_000017.10:g.48264220T>C	(Likely) benign	1 lab	8741efdf08
17:7365611 ZBTB4 C>T	17	7365611	7365611	C	T	ZBTB4	c.2690G>A	NM_001128833.2	NP_001122305.1:p.(Gly897Glu)	NC_000017.10:g.7365611C>T	(Likely) benign	1 lab	87444730ab
11:16119205 SOX6 A>T	11	16119205	16119205	A	T	SOX6	c.928T>A	NM_001367873.1	NP_001354802.1:p.(Ser310Thr)	NC_000011.9:g.16119205A>T	(Likely) benign	1 lab	87451c7b97
16:2816756 SRRM2 G>A	16	2816756	2816756	G	A	SRRM2	c.6227G>A	NM_016333.4	NP_057417.3:p.(Arg2076His)	NC_000016.9:g.2816756G>A	(Likely) benign	1 lab	87472c6811
16:3843455 CREBBP G>A	16	3843455	3843455	G	A	CREBBP	c.1148C>T	NM_004380.3	NP_004371.2:p.(Pro383Leu)	NC_000016.9:g.3843455G>A	VUS	1 lab	8791d48f00
2:71212375 ANKRD53 C>T	2	71212375	71212375	C	T	ANKRD53	c.1538C>T	NM_001115116.2	NP_001108588.1:p.(Ala513Val)	NC_000002.11:g.71212375C>T	VUS	1 lab	874836380c
16:20974692 DNAH3 G>A	16	20974692	20974692	G	A	DNAH3	c.10376C>T	NM_001347886.2	NP_001334815.1:p.(Thr3459Met)	NC_000016.9:g.20974692G>A	VUS	1 lab	8749de5258
22:50515322 MLC1 G>T	22	50515322	50515322	G	T	MLC1	c.545C>A	NM_015166.4	NP_055981.1:p.(Ala182Asp)	NC_000022.10:g.50515322G>T	VUS	1 lab	874aa0a01b
1:205180554 DSTYK T>G	1	205180554	205180554	T	G	DSTYK	c.110A>C	NM_015375.3	NP_056190.1:p.(Tyr37Ser)	NC_000001.10:g.205180554T>G	VUS	1 lab	874b4a2ee4
10:100148157 PYROXD2 T>C	10	100148157	100148157	T	C	PYROXD2	c.1401A>G	NM_032709.3	NP_116098.2:p.(Gly467=)	NC_000010.10:g.100148157T>C	(Likely) benign	1 lab	874e5291f5
17:56381770 TSPOAP1 G>A	17	56381770	56381770	G	A	TSPOAP1	c.5545-10C>T	NM_004758.4	NP_004749.2:p.?	NC_000017.10:g.56381770G>A	(Likely) benign	1 lab	874e6534bf
1:43212981 P3H1 C>A	1	43212981	43212981	C	A	P3H1	c.2017G>T	NM_022356.4	NP_071751.3:p.(Ala673Ser)	NC_000001.10:g.43212981C>A	VUS	1 lab	874e7e9455
19:13318190 CACNA1A G>A	19	13318190	13318190	G	A	CACNA1A	c.7458C>T	NM_001127222.2	NP_001120694.1:p.(Arg2486=)	NC_000019.9:g.13318190G>A	(Likely) benign	1 lab	874f6912ae
16:15842021 MYH11 C>T	16	15842021	15842021	C	T	MYH11	c.2063G>A	NM_002474.3	NP_002465.1:p.(Gly688Asp)	NC_000016.9:g.15842021C>T	VUS	1 lab	8752c57558
15:55619725 PIGB G>A	15	55619725	55619725	G	A	PIGB	c.418-4G>A	NM_004855.5	NP_004846.4:p.?	NC_000015.9:g.55619725G>A	(Likely) benign	1 lab	87538bef84
1:8716321 RERE CTCTTTG>C	1	8716321	8716347	CTCTTTG	C	RERE	c.30_35del	NM_001042681.2	NP_001036146.1:p.(Asp10_Lys11del)	NC_000001.10:g.8716342_8716347del	(Likely) benign	1 lab	8753bd1196
8:97345938 PTDSS1 G>C	8	97345938	97345938	G	C	PTDSS1	c.*144G>C	NM_014754.3	NP_055569.1:p.?	NC_000008.10:g.97345938G>C	(Likely) benign	1 lab	8753f5cf70
10:102010057 CWF19L1 T>C	10	102010057	102010057	T	C	CWF19L1	c.656A>G	NM_018294.6	NP_060764.3:p.(His219Arg)	NC_000010.10:g.102010057T>C	VUS	1 lab	87545e2a23
1:19557454 EMC1 T>C	1	19557454	19557454	T	C	EMC1	c.1948A>G	NM_015047.3	NP_055862.1:p.(Thr650Ala)	NC_000001.10:g.19557454T>C	(Likely) benign	1 lab	8754aa3df0
6:43191017 CUL9 G>A	6	43191017	43191017	G	A	CUL9	c.7166G>A	NM_015089.4	NP_055904.1:p.(Arg2389Gln)	NC_000006.11:g.43191017G>A	(Likely) benign	1 lab	8754d745cf
1:225592162 LBR C>T	1	225592162	225592162	C	T	LBR	c.1631G>A	NM_002296.4	NP_002287.2:p.(Arg544His)	NC_000001.10:g.225592162C>T	VUS	1 lab	8754ed8922
16:2139943 PKD1 T>G	16	2139943	2139943	T	G	PKD1	c.12697A>C	NM_001009944.3	NP_001009944.3:p.(Thr4233Pro)	NC_000016.9:g.2139943T>G	VUS	1 lab	875526ac83
9:123933793 CNTRL G>T	9	123933793	123933793	G	T	CNTRL	c.6384G>T	NM_007018.6	NP_008949.4:p.(Gln2128His)	NC_000009.11:g.123933793G>T	VUS	1 lab	875ac4306d
15:82532760 EFL1 T>C	15	82532760	82532760	T	C	EFL1	c.515A>G	NM_024580.6	NP_078856.4:p.(Gln172Arg)	NC_000015.9:g.82532760T>C	VUS	1 lab	875b9f17b2
12:85677361 ALX1 A>G	12	85677361	85677361	A	G	ALX1	c.238A>G	NM_006982.3	NP_008913.2:p.(Ile80Val)	NC_000012.11:g.85677361A>G	(Likely) benign	1 lab	875c4a54b6
1:22213738 HSPG2 A>G	1	22213738	22213738	A	G	HSPG2	c.1048T>C	NM_005529.7	NP_005520.4:p.(Cys350Arg)	NC_000001.10:g.22213738A>G	VUS	1 lab	8761355b60
5:14509492 TRIO T>TGA	5	14509492	14509494	T	TGA	TRIO	c.*962_*963insAG	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14509493_14509494insAG	VUS	1 lab	8762c0be77
1:2434022 PLCH2 C>A	1	2434022	2434022	C	A	PLCH2	c.2959+174C>A	NM_014638.4	NP_055453.2:p.?	NC_000001.10:g.2434022C>A	(Likely) benign	1 lab	8763324b5e
11:117869573 IL10RA C>T	11	117869573	117869573	C	T	IL10RA	c.954C>T	NM_001558.3	NP_001549.2:p.(Asp318=)	NC_000011.9:g.117869573C>T	(Likely) benign	1 lab	26328e37ab
3:49569154 DAG1 A>G	3	49569154	49569154	A	G	DAG1	c.1210A>G	NM_004393.6	NP_004384.5:p.(Thr404Ala)	NC_000003.11:g.49569154A>G	VUS	1 lab	881df6f488
14:32560025 ARHGAP5 T>A	14	32560025	32560025	T	A	ARHGAP5	c.150T>A	NM_001030055.2	NP_001025226.1:p.(Tyr50Ter)	NC_000014.8:g.32560025T>A	VUS	1 lab	8769e98af1
3:192441675 FGF12 A>T	3	192441675	192441675	A	T	FGF12	c.13+3295T>A	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192441675A>T	(Likely) benign	1 lab	876a34c80d
1:160188216 DCAF8 G>C	1	160188216	160188216	G	C	DCAF8	c.1575C>G	NM_015726.4	NP_056541.2:p.(Asn525Lys)	NC_000001.10:g.160188216G>C	(Likely) benign	1 lab	876c7d5d65
X:10463731 MID1 C>T	X	10463731	10463731	C	T	MID1	c.757G>A	NM_000381.4	NP_000372.1:p.(Val253Ile)	NC_000023.10:g.10463731C>T	VUS	1 lab	876dd6852c
19:4123866 MAP2K2 C>T	19	4123866	4123866	C	T	MAP2K2	c.7G>A	NM_030662.4	NP_109587.1:p.(Ala3Thr)	NC_000019.9:g.4123866C>T	VUS	1 lab	876ed5c93c
7:6043354 PMS2 C>T	7	6043354	6043354	C	T	PMS2	c.320G>A	NM_000535.7	NP_000526.2:p.(Arg107Gln)	NC_000007.13:g.6043354C>T	VUS	1 lab	8771026243
X:40552158 MED14 A>C	X	40552158	40552158	A	C	MED14	c.1651-4T>G	NM_004229.4	NP_004220.2:p.?	NC_000023.10:g.40552158A>C	(Likely) benign	1 lab	877115df72
11:103126160 DYNC2H1 T>A	11	103126160	103126160	T	A	DYNC2H1	c.10223T>A	NM_001377.3	NP_001368.2:p.(Ile3408Asn)	NC_000011.9:g.103126160T>A	VUS	1 lab	87719bdf7c
5:169435710 DOCK2 G>T	5	169435710	169435710	G	T	DOCK2	c.3192G>T	NM_004946.3	NP_004937.1:p.(Arg1064=)	NC_000005.9:g.169435710G>T	(Likely) benign	1 lab	263b7b9a43
X:37027482 FAM47C G>C	X	37027482	37027482	G	C	FAM47C	c.999G>C	NM_001013736.3	NP_001013758.1:p.(Glu333Asp)	NC_000023.10:g.37027482G>C	VUS	1 lab	8772135598
15:99500618 IGF1R G>A	15	99500618	99500618	G	A	IGF1R	c.4051G>A	NM_000875.5	NP_000866.1:p.(Gly1351Arg)	NC_000015.9:g.99500618G>A	VUS	1 lab	87724965c7
8:145738981 RECQL4 T>A	8	145738981	145738981	T	A	RECQL4	c.2174A>T	NM_004260.4	NP_004251.4:p.(His725Leu)	NC_000008.10:g.145738981T>A	VUS	1 lab	8776b8209e
19:40424027 FCGBP G>C	19	40424027	40424027	G	C	FCGBP	c.2176C>G	NM_003890.3	NP_003881.2:p.(Leu726Val)	NC_000019.9:g.40424027G>C	VUS	1 lab	8777b0debc
16:89533910 ANKRD11 A>C	16	89533910	89533910	A	C	ANKRD11	c.-145+22743T>G	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89533910A>C	(Likely) benign	1 lab	8778134ba6
2:230659731 TRIP12 AGAAAGCATTTGA>GGAAAGCATTTGC	2	230659731	230659743	AGAAAGCATTTGA	GGAAAGCATTTGC	TRIP12	c.3968+152_3968+164delinsGCAAATGCTTTCC	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230659731_230659743delinsGGAAAGCATTTGC	VUS	1 lab	8778861c90
6:21595718 SOX4 C>T	6	21595718	21595718	C	T	SOX4	c.953C>T	NM_003107.3	NP_003098.1:p.(Pro318Leu)	NC_000006.11:g.21595718C>T	VUS	1 lab	877949ee3a
2:148696708 ORC4 C>T	2	148696708	148696708	C	T	ORC4	c.958+1G>A	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148696708C>T	(Likely) pathogenic	1 lab	877c875384
3:41275753 CTNNB1 C>T	3	41275753	41275753	C	T	CTNNB1	c.1648C>T	NM_001904.4	NP_001895.1:p.(Arg550Cys)	NC_000003.11:g.41275753C>T	VUS	1 lab	877cac5afa
11:55032546 TRIM48 TA>T	11	55032546	55032549	TA	T	TRIM48	c.218del	NM_024114.5	NP_077019.2:p.(Lys73ArgfsTer14)	NC_000011.9:g.55032549del	VUS	1 lab	877d0f9265
2:84800720 DNAH6 T>G	2	84800720	84800720	T	G	DNAH6	c.1924+9T>G	NM_001370.2	NP_001361.1:p.?	NC_000002.11:g.84800720T>G	(Likely) benign	1 lab	877f03f6dc
17:56285508 MKS1 A>G	17	56285508	56285508	A	G	MKS1	c.1123T>C	NM_017777.4	NP_060247.2:p.(Phe375Leu)	NC_000017.10:g.56285508A>G	VUS	1 lab	877f34652d
3:45436134 LARS2 G>A	3	45436134	45436134	G	A	LARS2	c.189G>A	NM_015340.4	NP_056155.1:p.(Trp63Ter)	NC_000003.11:g.45436134G>A	VUS	1 lab	8782305fbf
7:44189421 GCK G>A	7	44189421	44189421	G	A	GCK	c.617C>T	NM_000162.5	NP_000153.1:p.(Thr206Met)	NC_000007.13:g.44189421G>A	(Likely) pathogenic	1 lab	878631d1aa
8:61654571 CHD7 G>A	8	61654571	61654571	G	A	CHD7	c.580G>A	NM_017780.4	NP_060250.2:p.(Ala194Thr)	NC_000008.10:g.61654571G>A	(Likely) benign	1 lab	8789cf207b
5:96364215 LNPEP A>G	5	96364215	96364215	A	G	LNPEP	c.3056A>G	NM_005575.3	NP_005566.2:p.(Lys1019Arg)	NC_000005.9:g.96364215A>G	(Likely) benign	1 lab	878c18de9b
12:106820992 POLR3B TGAAGAC>T	12	106820992	106820998	TGAAGAC	T	POLR3B	c.1120_1125del	NM_018082.6	NP_060552.4:p.(Glu374_Asp375del)	NC_000012.11:g.106820993_106820998del	(Likely) benign	1 lab	878c746e3c
16:89753169 CDK10 T>G	16	89753169	89753169	T	G	CDK10	c.51T>G	NM_052988.5	NP_443714.3:p.(Arg17=)	NC_000016.9:g.89753169T>G	(Likely) benign	1 lab	878c7c8d2d
20:25485604 NINL C>T	20	25485604	25485604	C	T	NINL	c.628G>A	NM_025176.6	NP_079452.3:p.(Val210Met)	NC_000020.10:g.25485604C>T	(Likely) benign	1 lab	878dc4dd4f
7:150747236 ASIC3 C>A	7	150747236	150747236	C	A	ASIC3	c.578C>A	NM_004769.4	NP_004760.1:p.(Ala193Asp)	NC_000007.13:g.150747236C>A	VUS	1 lab	878dcb3f7d
1:16206435 SPEN G>A	1	16206435	16206435	G	A	SPEN	c.881+3262G>A	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16206435G>A	(Likely) benign	1 lab	878fab8cd1
12:133220130 POLE C>T	12	133220130	133220130	C	T	POLE	c.4307G>A	NM_006231.4	NP_006222.2:p.(Arg1436Gln)	NC_000012.11:g.133220130C>T	VUS	1 lab	878fb172c9
21:47775544 PCNT G>T	21	47775544	47775544	G	T	PCNT	c.1936+3G>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47775544G>T	(Likely) benign	1 lab	879051c532
2:179590321 TTN A>T	2	179590321	179590321	A	T	TTN	c.20610T>A	NM_001267550.1	NP_001254479.1:p.(Pro6870=)	NC_000002.11:g.179590321A>T	(Likely) benign	1 lab	263e9c1064
2:168102265 XIRP2 C>T	2	168102265	168102265	C	T	XIRP2	c.4363C>T	NM_152381.6	NP_689594.4:p.(Leu1455=)	NC_000002.11:g.168102265C>T	VUS	1 lab	8796fbe5ba
6:30691200 TUBB C>T	6	30691200	30691200	C	T	TUBB	c.361C>T	NM_178014.4	NP_821133.1:p.(Arg121Trp)	NC_000006.11:g.30691200C>T	(Likely) pathogenic	1 lab	8796fc364c
6:52871155 CILK1 T>C	6	52871155	52871155	T	C	CILK1	c.1702A>G	NM_014920.5	NP_055735.1:p.(Met568Val)	NC_000006.11:g.52871155T>C	(Likely) benign	1 lab	8797d98e9b
3:42777347 CCDC13 G>A	3	42777347	42777347	G	A	CCDC13	c.1223C>T	NM_144719.4	NP_653320.3:p.(Thr408Met)	NC_000003.11:g.42777347G>A	(Likely) benign	1 lab	87986768ff
4:56818380 CEP135 G>T	4	56818380	56818380	G	T	CEP135	c.84G>T	NM_025009.5	NP_079285.2:p.(Glu28Asp)	NC_000004.11:g.56818380G>T	(Likely) benign	1 lab	87998b2049
4:5862884 CRMP1 T>C	4	5862884	5862884	T	C	CRMP1	c.524A>G	NM_001014809.3	NP_001014809.1:p.(Asn175Ser)	NC_000004.11:g.5862884T>C	VUS	1 lab	8799a15762
4:88973314 PKD2 A>G	4	88973314	88973314	A	G	PKD2	c.1716+4A>G	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88973314A>G	VUS	1 lab	879a207352
2:97817656 ANKRD36 CTCCACGA>C	2	97817656	97817665	CTCCACGA	C	ANKRD36	c.1145_1151del	NM_001354587.1	NP_001341516.1:p.(Pro382LeufsTer2)	NC_000002.11:g.97817659_97817665del	(Likely) benign	1 lab	879a5d550b
16:30080134 ALDOA C>T	16	30080134	30080134	C	T	ALDOA	c.542-5C>T	NM_001243177.4	NP_001230106.1:p.?	NC_000016.9:g.30080134C>T	(Likely) benign	1 lab	879add5388
11:107375893 ALKBH8 C>G	11	107375893	107375893	C	G	ALKBH8	c.1486G>C	NM_138775.3	NP_620130.2:p.(Gly496Arg)	NC_000011.9:g.107375893C>G	VUS	1 lab	879b0202f1
12:57859658 GLI1 C>T	12	57859658	57859658	C	T	GLI1	c.712C>T	NM_005269.3	NP_005260.1:p.(Arg238Cys)	NC_000012.11:g.57859658C>T	VUS	1 lab	879b9ddbef
11:125770090 HYLS1 G>T	11	125770090	125770090	G	T	HYLS1	c.827G>T	NM_001134793.2	NP_001128265.1:p.(Arg276Leu)	NC_000011.9:g.125770090G>T	VUS	1 lab	879e24fd97
18:50589727 DCC G>C	18	50589727	50589727	G	C	DCC	c.1038G>C	NM_005215.4	NP_005206.2:p.(Met346Ile)	NC_000018.9:g.50589727G>C	VUS	1 lab	879e3676de
19:3739107 TJP3 C>T	19	3739107	3739107	C	T	TJP3	c.1606C>T	NM_001267560.2	NP_001254489.1:p.(Arg536Trp)	NC_000019.9:g.3739107C>T	(Likely) benign	1 lab	879ec31ff8
7:75959060 YWHAG G>A	7	75959060	75959060	G	A	YWHAG	c.578C>T	NM_012479.4	NP_036611.2:p.(Ala193Val)	NC_000007.13:g.75959060G>A	(Likely) pathogenic	1 lab	879ef1a895
22:37470676 TMPRSS6 G>A	22	37470676	37470676	G	A	TMPRSS6	c.1415C>T	NM_001374504.1	NP_001361433.1:p.(Pro472Leu)	NC_000022.10:g.37470676G>A	VUS	1 lab	87a0347dac
4:140278583 NAA15 G>T	4	140278583	140278583	G	T	NAA15	c.1131G>T	NM_057175.5	NP_476516.1:p.(Gln377His)	NC_000004.11:g.140278583G>T	(Likely) benign	1 lab	87a11f4f4a
2:8957759 KIDINS220 G>A	2	8957759	8957759	G	A	KIDINS220	c.295C>T	NM_020738.4	NP_065789.1:p.(His99Tyr)	NC_000002.11:g.8957759G>A	(Likely) benign	1 lab	87a146442d
22:19165546 SLC25A1 C>A	22	19165546	19165546	C	A	SLC25A1	c.211G>T	NM_005984.5	NP_005975.1:p.(Val71Leu)	NC_000022.10:g.19165546C>A	VUS	1 lab	87a225dff1
9:140110801 NDOR1 C>T	9	140110801	140110801	C	T	NDOR1	c.1727C>T	NM_014434.4	NP_055249.1:p.(Pro576Leu)	NC_000009.11:g.140110801C>T	VUS	1 lab	87a37dc526
21:33043898 SCAF4 CCTGT>C	21	33043898	33043907	CCTGT	C	SCAF4	c.3254_3257del	NM_020706.2	NP_065757.1:p.(Asp1085GlyfsTer18)	NC_000021.8:g.33043904_33043907del	(Likely) benign	1 lab	87a56742b2
1:155327116 ASH1L T>C	1	155327116	155327116	T	C	ASH1L	c.7046A>G	NM_018489.3	NP_060959.2:p.(Asn2349Ser)	NC_000001.10:g.155327116T>C	(Likely) benign	1 lab	87a7df23ae
4:191003285 MISSING C>T	4	191003285	191003285	C	T	MISSING				NC_000004.11:g.191003285C>T	VUS	1 lab	87aa3131f0
X:153780318 IKBKG G>A	X	153780318	153780318	G	A	IKBKG	c.101G>A	NM_001099857.5	NP_001093327.1:p.(Gly34Glu)	NC_000023.10:g.153780318G>A	VUS	1 lab	87abc4b13f
19:42795522 CIC C>G	19	42795522	42795522	C	G	CIC	c.5329C>G	NM_001386298.1	NP_001373227.1:p.(Pro1777Ala)	NC_000019.9:g.42795522C>G	(Likely) benign	1 lab	87abda80ea
17:79805199 P4HB C>T	17	79805199	79805199	C	T	P4HB	c.649G>A	NM_000918.4	NP_000909.2:p.(Glu217Lys)	NC_000017.10:g.79805199C>T	(Likely) benign	1 lab	87ac0c2bb7
7:31009523 GHRHR C>G	7	31009523	31009523	C	G	GHRHR	c.310C>G	NM_000823.4	NP_000814.2:p.(Pro104Ala)	NC_000007.13:g.31009523C>G	VUS	1 lab	87add0d082
8:59728153 TOX G>A	8	59728153	59728153	G	A	TOX	c.1136C>T	NM_014729.3	NP_055544.1:p.(Pro379Leu)	NC_000008.10:g.59728153G>A	VUS	1 lab	8875fe892f
12:51089077 DIP2B A>G	12	51089077	51089077	A	G	DIP2B	c.1747A>G	NM_173602.3	NP_775873.2:p.(Ser583Gly)	NC_000012.11:g.51089077A>G	(Likely) benign	1 lab	87addb9be2
5:89990386 ADGRV1 T>G	5	89990386	89990386	T	G	ADGRV1	c.7813T>G	NM_032119.4	NP_115495.3:p.(Leu2605Val)	NC_000005.9:g.89990386T>G	(Likely) benign	1 lab	26405f7486
11:35327762 SLC1A2 C>T	11	35327762	35327762	C	T	SLC1A2	c.589G>A	NM_004171.4	NP_004162.2:p.(Val197Ile)	NC_000011.9:g.35327762C>T	(Likely) benign	1 lab	87b5c5ba1c
2:60688580 BCL11A C>CTCCTCT	2	60688580	60688591	C	CTCCTCT	BCL11A	c.1461_1466dup	NM_022893.4	NP_075044.2:p.(Glu488_Glu489dup)	NC_000002.11:g.60688586_60688591dup	VUS	1 lab	87b82d7a13
22:51137169 SHANK3 C>T	22	51137169	51137169	C	T	SHANK3	c.1775C>T	NM_001372044.2	NP_001358973.1:p.(Thr592Met)	NC_000022.10:g.51137169C>T	VUS	1 lab	87b91c5022
9:124079396 GSN C>T	9	124079396	124079396	C	T	GSN	c.786C>T	NM_198252.3	NP_937895.1:p.(Ser262=)	NC_000009.11:g.124079396C>T	(Likely) benign	1 lab	87b979a983
17:41256897 BRCA1 T>G	17	41256897	41256897	T	G	BRCA1	c.289A>C	NM_007294.4	NP_009225.1:p.(Thr97Pro)	NC_000017.10:g.41256897T>G	VUS	1 lab	87bc7b29e4
20:34022004 GDF5 C>A	20	34022004	34022004	C	A	GDF5	c.1209G>T	NM_000557.5	NP_000548.2:p.(Lys403Asn)	NC_000020.10:g.34022004C>A	VUS	1 lab	87bcd40447
11:14891190 PDE3B C>A	11	14891190	14891190	C	A	PDE3B	c.3323C>A	NM_000922.4	NP_000913.2:p.(Ala1108Glu)	NC_000011.9:g.14891190C>A	(Likely) benign	1 lab	87be10eb90
4:5812152 EVC G>A	4	5812152	5812152	G	A	EVC	c.2869G>A	NM_153717.3	NP_714928.1:p.(Gly957Arg)	NC_000004.11:g.5812152G>A	(Likely) benign	1 lab	87c05c9cb4
12:53722178 SP7 G>A	12	53722178	53722178	G	A	SP7	c.1048C>T	NM_001173467.3	NP_001166938.1:p.(Arg350Trp)	NC_000012.11:g.53722178G>A	(Likely) benign	1 lab	87c09ead30
6:152510472 SYNE1 G>T	6	152510472	152510472	G	T	SYNE1	c.23216C>A	NM_182961.4	NP_892006.3:p.(Ser7739Tyr)	NC_000006.11:g.152510472G>T	VUS	1 lab	87c0f6afd5
16:348089 AXIN1 C>T	16	348089	348089	C	T	AXIN1	c.1417G>A	NM_003502.4	NP_003493.1:p.(Glu473Lys)	NC_000016.9:g.348089C>T	VUS	1 lab	88a00e109c
11:45955606 PHF21A AG>A	11	45955606	45955613	AG	A	PHF21A	c.1958del	NM_001352027.3	NP_001338956.1:p.(Pro653LeufsTer104)	NC_000011.9:g.45955613del	(Likely) pathogenic	1 lab	87c18b2d8c
4:126367560 FAT4 G>T	4	126367560	126367560	G	T	FAT4	c.7312G>T	NM_001291303.3	NP_001278232.1:p.(Val2438Phe)	NC_000004.11:g.126367560G>T	VUS	1 lab	87c257dd27
8:145139325 GPAA1 G>C	8	145139325	145139325	G	C	GPAA1	c.823G>C	NM_003801.4	NP_003792.1:p.(Glu275Gln)	NC_000008.10:g.145139325G>C	(Likely) benign	1 lab	87c32071eb
17:41006729 AOC3 C>T	17	41006729	41006729	C	T	AOC3	c.1865C>T	NM_003734.4	NP_003725.1:p.(Ala622Val)	NC_000017.10:g.41006729C>T	(Likely) benign	1 lab	87c51dbb66
10:50178191 WDFY4 G>A	10	50178191	50178191	G	A	WDFY4	c.8785G>A	NM_001394531.1	NP_001381460.1:p.(Glu2929Lys)	NC_000010.10:g.50178191G>A	VUS	1 lab	87c564d4db
9:139405619 NOTCH1 G>C	9	139405619	139405619	G	C	NOTCH1	c.2572C>G	NM_017617.5	NP_060087.3:p.(Pro858Ala)	NC_000009.11:g.139405619G>C	VUS	1 lab	87c7af220b
10:24813319 KIAA1217 A>G	10	24813319	24813319	A	G	KIAA1217	c.2524A>G	NM_019590.5	NP_062536.2:p.(Lys842Glu)	NC_000010.10:g.24813319A>G	VUS	1 lab	87c80e921b
18:31324188 ASXL3 G>T	18	31324188	31324188	G	T	ASXL3	c.4376G>T	NM_030632.3	NP_085135.1:p.(Gly1459Val)	NC_000018.9:g.31324188G>T	(Likely) benign	1 lab	87c83687c8
5:60825912 ZSWIM6 A>G	5	60825912	60825912	A	G	ZSWIM6	c.1871A>G	NM_020928.2	NP_065979.1:p.(Asn624Ser)	NC_000005.9:g.60825912A>G	(Likely) benign	1 lab	87ca01f7bc
19:11118598 SMARCA4 G>T	19	11118598	11118598	G	T	SMARCA4	c.2022G>T	NM_003072.5	NP_003063.2:p.(Pro674=)	NC_000019.9:g.11118598G>T	(Likely) benign	1 lab	87ccf8e1f4
18:21107861 RMC1 C>T	18	21107861	21107861	C	T	RMC1	c.1292C>T	NM_013326.5	NP_037458.3:p.(Ala431Val)	NC_000018.9:g.21107861C>T	(Likely) benign	1 lab	87cd52b7b9
11:17418527 ABCC8 C>G	11	17418527	17418527	C	G	ABCC8	c.4055G>C	NM_000352.6	NP_000343.2:p.(Arg1352Pro)	NC_000011.9:g.17418527C>G	(Likely) pathogenic	1 lab	87ce4363a6
6:30997622 MUC22 GGTTCTGAGA>G	6	30997622	30997631	GGTTCTGAGA	G	MUC22	c.4415_4423del	NM_001395414.1	NP_001382343.1:p.(Gly1472_Thr1475delinsAla)	NC_000006.11:g.30997623_30997631del	(Likely) benign	1 lab	87ce85469b
13:39261777 FREM2 T>C	13	39261777	39261777	T	C	FREM2	c.296T>C	NM_207361.6	NP_997244.4:p.(Val99Ala)	NC_000013.10:g.39261777T>C	(Likely) benign	1 lab	87ceacf0a8
X:30877801 TAB3 T>TA	X	30877801	30877816	T	TA	TAB3	c.-90-7dup	NM_152787.5	NP_690000.3:p.?	NC_000023.10:g.30877816dup	(Likely) benign	1 lab	87d09b3c2e
7:50531128 DDC C>T	7	50531128	50531128	C	T	DDC	c.1244G>A	NM_001082971.2	NP_001076440.2:p.(Gly415Asp)	NC_000007.13:g.50531128C>T	VUS	1 lab	87d369b79e
3:10302076 TATDN2 C>G	3	10302076	10302076	C	G	TATDN2	c.670C>G	NM_014760.4	NP_055575.3:p.(Pro224Ala)	NC_000003.11:g.10302076C>G	(Likely) benign	1 lab	87d7474a80
X:68890050 EDA TCAGGA>T	X	68890050	68890056	TCAGGA	T	EDA	c.396+53504_396+53508del	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.68890052_68890056del	VUS	1 lab	87d83eb961
16:76592574 CNTNAP4 C>T	16	76592574	76592574	C	T	CNTNAP4	c.3921C>T	NM_033401.5	NP_207837.2:p.(Phe1307=)	NC_000016.9:g.76592574C>T	VUS	1 lab	87d9ff719f
5:127686571 FBN2 C>T	5	127686571	127686571	C	T	FBN2	c.2801G>A	NM_001999.4	NP_001990.2:p.(Arg934Gln)	NC_000005.9:g.127686571C>T	(Likely) benign	1 lab	87da32ff62
11:113934932 ZBTB16 G>A	11	113934932	113934932	G	A	ZBTB16	c.910G>A	NM_006006.6	NP_005997.2:p.(Glu304Lys)	NC_000011.9:g.113934932G>A	(Likely) benign	1 lab	87db3e1c1b
X:152110301 ZNF185 A>G	X	152110301	152110301	A	G	ZNF185	c.1308-3510A>G	NM_001395254.1	NP_001382183.1:p.?	NC_000023.10:g.152110301A>G	VUS	1 lab	87dbfa1dfc
20:43048528 HNF4A A>G	20	43048528	43048528	A	G	HNF4A	c.892+12A>G	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43048528A>G	(Likely) benign	1 lab	87dd6e6bcb
17:7407030 POLR2A A>G	17	7407030	7407030	A	G	POLR2A	c.3160A>G	NM_000937.5	NP_000928.1:p.(Met1054Val)	NC_000017.10:g.7407030A>G	VUS	1 lab	87de1e5f75
15:99478580 IGF1R A>G	15	99478580	99478580	A	G	IGF1R	c.3222A>G	NM_000875.5	NP_000866.1:p.(Pro1074=)	NC_000015.9:g.99478580A>G	(Likely) benign	1 lab	87df62333b
2:42990569 OXER1 G>A	2	42990569	42990569	G	A	OXER1	c.634C>T	NM_148962.5	NP_683765.2:p.(Arg212Cys)	NC_000002.11:g.42990569G>A	(Likely) benign	1 lab	87df79848f
7:45956197 IGFBP3 C>T	7	45956197	45956197	C	T	IGFBP3	c.700G>A	NM_000598.5	NP_000589.2:p.(Gly234Ser)	NC_000007.13:g.45956197C>T	(Likely) benign	1 lab	87e06a7de5
X:153714150 UBL4A C>G	X	153714150	153714150	C	G	UBL4A	c.323G>C	NM_014235.5	NP_055050.1:p.(Ser108Thr)	NC_000023.10:g.153714150C>G	VUS	1 lab	87e21e67ad
6:111699009 REV3L C>T	6	111699009	111699009	C	T	REV3L	c.1492G>A	NM_001372078.1	NP_001359007.1:p.(Asp498Asn)	NC_000006.11:g.111699009C>T	(Likely) benign	1 lab	87e2cf7848
11:108155097 ATM A>AT	11	108155097	108155101	A	AT	ATM	c.3894dup	NM_000051.4	NP_000042.3:p.(Ala1299CysfsTer3)	NC_000011.9:g.108155101dup	(Likely) pathogenic	1 lab	87e37cdb4e
X:99925814 SRPX2 C>T	X	99925814	99925814	C	T	SRPX2	c.1228C>T	NM_014467.3	NP_055282.1:p.(Arg410Cys)	NC_000023.10:g.99925814C>T	VUS	1 lab	87e49f99b7
17:63554716 AXIN2 G>C	17	63554716	63554716	G	C	AXIN2	c.23C>G	NM_004655.4	NP_004646.3:p.(Thr8Ser)	NC_000017.10:g.63554716G>C	VUS	1 lab	87e543d252
X:117043737 KLHL13 G>A	X	117043737	117043737	G	A	KLHL13	c.845C>T	NM_001168302.2	NP_001161774.1:p.(Thr282Met)	NC_000023.10:g.117043737G>A	VUS	1 lab	87e5e07127
21:47423623 COL6A1 G>A	21	47423623	47423623	G	A	COL6A1	c.2783G>A	NM_001848.3	NP_001839.2:p.(Arg928His)	NC_000021.8:g.47423623G>A	(Likely) benign	1 lab	87e6931276
1:227083195 PSEN2 C>T	1	227083195	227083195	C	T	PSEN2	c.1262C>T	NM_000447.3	NP_000438.2:p.(Thr421Met)	NC_000001.10:g.227083195C>T	VUS	1 lab	87e78bdefc
20:52789466 CYP24A1 CCTT>C	20	52789466	52789472	CCTT	C	CYP24A1	c.428_430del	NM_000782.5	NP_000773.2:p.(Glu143del)	NC_000020.10:g.52789470_52789472del	(Likely) pathogenic	1 lab	87e83ae44c
20:44523661 CTSA G>A	20	44523661	44523661	G	A	CTSA	c.977G>A	NM_000308.4	NP_000299.3:p.(Arg326His)	NC_000020.10:g.44523661G>A	VUS	1 lab	87e8fb1405
3:16343174 OXNAD1 GTTC>G	3	16343174	16343182	GTTC	G	OXNAD1	c.480_482del	NM_138381.5	NP_612390.1:p.(Phe161del)	NC_000003.11:g.16343180_16343182del	VUS	1 lab	87e92dec13
1:200968479 KIF21B T>C	1	200968479	200968479	T	C	KIF21B	c.1883A>G	NM_001252102.2	NP_001239031.1:p.(Lys628Arg)	NC_000001.10:g.200968479T>C	VUS	1 lab	87e999fa25
1:8384564 SLC45A1 T>TGCC	1	8384564	8384565	T	TGCC	SLC45A1	c.175_176insGCC	NM_001080397.3	NP_001073866.3:p.(Ser59delinsCysPro)	NC_000001.10:g.8384564_8384565insGCC	(Likely) benign	1 lab	87ea2b6b8c
14:23896066 MYH7 A>G	14	23896066	23896066	A	G	MYH7	c.1964T>C	NM_000257.4	NP_000248.2:p.(Leu655Pro)	NC_000014.8:g.23896066A>G	VUS	1 lab	87ea360d6c
3:66431189 LRIG1 C>A	3	66431189	66431189	C	A	LRIG1	c.2867G>T	NM_015541.3	NP_056356.2:p.(Ser956Ile)	NC_000003.11:g.66431189C>A	(Likely) benign	1 lab	87ebf5e9ca
X:154134709 F8 C>T	X	154134709	154134709	C	T	F8	c.5359G>A	NM_000132.4	NP_000123.1:p.(Glu1787Lys)	NC_000023.10:g.154134709C>T	VUS	1 lab	87ec5273d7
X:154114404 F8 C>T	X	154114404	154114404	C	T	F8	c.6429+9948G>A	NM_000132.4	NP_000123.1:p.?	NC_000023.10:g.154114404C>T	(Likely) benign	1 lab	87ecc0cc5e
7:92732212 SAMD9 C>G	7	92732212	92732212	C	G	SAMD9	c.3199G>C	NM_017654.4	NP_060124.2:p.(Val1067Leu)	NC_000007.13:g.92732212C>G	(Likely) benign	1 lab	87edbcffae
15:59500180 MYO1E C>G	15	59500180	59500180	C	G	MYO1E	c.1530+700G>C	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59500180C>G	VUS	1 lab	87eeb53aab
12:50589675 LIMA1 A>C	12	50589675	50589675	A	C	LIMA1	c.973-5T>G	NM_016357.5	NP_057441.1:p.?	NC_000012.11:g.50589675A>C	(Likely) benign	1 lab	87eede04f3
2:240957978 NDUFA10 C>T	2	240957978	240957978	C	T	NDUFA10	c.539G>A	NM_004544.4	NP_004535.1:p.(Arg180Gln)	NC_000002.11:g.240957978C>T	VUS	1 lab	87efe42874
16:25228600 AQP8 G>A	16	25228600	25228600	G	A	AQP8	c.94G>A	NM_001169.3	NP_001160.2:p.(Glu32Lys)	NC_000016.9:g.25228600G>A	VUS	1 lab	87f02fcc08
14:62567270 SYT16 G>A	14	62567270	62567270	G	A	SYT16	c.1783G>A	NM_001367656.1	NP_001354585.1:p.(Val595Ile)	NC_000014.8:g.62567270G>A	(Likely) benign	1 lab	87f0fc88b9
11:65299148 SCYL1 G>A	11	65299148	65299148	G	A	SCYL1	c.1110G>A	NM_020680.4	NP_065731.3:p.(Leu370=)	NC_000011.9:g.65299148G>A	(Likely) benign	1 lab	87f1d531c9
4:1804636 FGFR3 C>G	4	1804636	1804636	C	G	FGFR3	c.931-783C>G	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804636C>G	VUS	1 lab	87f1f49c58
2:230668315 TRIP12 A>C	2	230668315	230668315	A	C	TRIP12	c.2970T>G	NM_001348323.3	NP_001335252.1:p.(Asp990Glu)	NC_000002.11:g.230668315A>C	VUS	1 lab	87f3b6c2ec
X:123224589 STAG2 C>T	X	123224589	123224589	C	T	STAG2	c.3442C>T	NM_001042750.2	NP_001036215.1:p.(His1148Tyr)	NC_000023.10:g.123224589C>T	VUS	1 lab	87f4865fc6
1:155018836 DCST1 G>A	1	155018836	155018836	G	A	DCST1	c.1369G>A	NM_152494.4	NP_689707.2:p.(Val457Met)	NC_000001.10:g.155018836G>A	(Likely) benign	1 lab	87f5c51fbe
X:102004132 GPRASP3 C>T	X	102004132	102004132	C	T	GPRASP3	c.209C>T	NM_001142524.2	NP_001135996.1:p.(Thr70Met)	NC_000023.10:g.102004132C>T	(Likely) benign	1 lab	87fa543369
3:43602826 ANO10 C>G	3	43602826	43602826	C	G	ANO10	c.1362G>C	NM_018075.5	NP_060545.3:p.(Trp454Cys)	NC_000003.11:g.43602826C>G	VUS	1 lab	87fa6c00c3
19:7141827 INSR G>A	19	7141827	7141827	G	A	INSR	c.2543C>T	NM_000208.4	NP_000199.2:p.(Ala848Val)	NC_000019.9:g.7141827G>A	(Likely) benign	1 lab	87fb8157b3
7:40102487 CDK13 A>G	7	40102487	40102487	A	G	CDK13	c.2663A>G	NM_003718.5	NP_003709.3:p.(Glu888Gly)	NC_000007.13:g.40102487A>G	VUS	1 lab	87fbadd241
19:4101212 MAP2K2 C>G	19	4101212	4101212	C	G	MAP2K2	c.580+15G>C	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4101212C>G	(Likely) benign	1 lab	24e1d642d3
9:98242710 PTCH1 C>G	9	98242710	98242710	C	G	PTCH1	c.907G>C	NM_000264.5	NP_000255.2:p.(Asp303His)	NC_000009.11:g.98242710C>G	VUS	1 lab	87fbe5dee5
X:39923016 BCOR C>T	X	39923016	39923016	C	T	BCOR	c.3692G>A	NM_001123385.2	NP_001116857.1:p.(Arg1231Gln)	NC_000023.10:g.39923016C>T	VUS	1 lab	87fcd3ee77
17:650787 GEMIN4 C>T	17	650787	650787	C	T	GEMIN4	c.496G>A	NM_015721.3	NP_056536.2:p.(Glu166Lys)	NC_000017.10:g.650787C>T	VUS	1 lab	87fea99e3e
16:1250424 CACNA1H G>T	16	1250424	1250424	G	T	CACNA1H	c.972G>T	NM_021098.3	NP_066921.2:p.(Gln324His)	NC_000016.9:g.1250424G>T	VUS	1 lab	880297c4c9
19:18943172 UPF1 G>A	19	18943172	18943172	G	A	UPF1	c.154G>A	NM_002911.4	NP_002902.2:p.(Gly52Ser)	NC_000019.9:g.18943172G>A	(Likely) benign	1 lab	8802ac1888
20:42199704 SGK2 GGTGTGT>G	20	42199704	42199742	GGTGTGT	G	SGK2	c.510+37_510+42del	NM_170693.3	NP_733794.1:p.?	NC_000020.10:g.42199737_42199742del	VUS	1 lab	8802caada6
2:9658388 ADAM17 CAA>C	2	9658388	9658410	CAA	C	ADAM17	c.958-14_958-13del	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658409_9658410del	(Likely) benign	1 lab	2647dd1c2e
19:50321825 MED25 C>T	19	50321825	50321825	C	T	MED25	c.135-3C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50321825C>T	(Likely) benign	1 lab	8808598841
2:233349921 ECEL1 C>T	2	233349921	233349921	C	T	ECEL1	c.843G>A	NM_004826.4	NP_004817.2:p.(Glu281=)	NC_000002.11:g.233349921C>T	VUS	1 lab	880c1b2dd2
11:70644587 SHANK2 C>T	11	70644587	70644587	C	T	SHANK2	c.1738G>A	NM_012309.5	NP_036441.2:p.(Val580Met)	NC_000011.9:g.70644587C>T	VUS	1 lab	880f3d9fab
10:119303016 EMX2 A>C	10	119303016	119303016	A	C	EMX2	c.238A>C	NM_004098.4	NP_004089.1:p.(Asn80His)	NC_000010.10:g.119303016A>C	VUS	1 lab	880f80008f
5:14387557 TRIO A>G	5	14387557	14387557	A	G	TRIO	c.3581A>G	NM_007118.4	NP_009049.2:p.(Glu1194Gly)	NC_000005.9:g.14387557A>G	VUS	1 lab	8810af4b16
1:179078180 ABL2 G>C	1	179078180	179078180	G	C	ABL2	c.2222C>G	NM_007314.4	NP_009298.1:p.(Ala741Gly)	NC_000001.10:g.179078180G>C	VUS	1 lab	88119b1d3b
17:57763030 CLTC G>A	17	57763030	57763030	G	A	CLTC	c.4688G>A	NM_004859.4	NP_004850.1:p.(Arg1563Lys)	NC_000017.10:g.57763030G>A	(Likely) benign	1 lab	881237c67a
5:89925095 ADGRV1 G>T	5	89925095	89925095	G	T	ADGRV1	c.1578G>T	NM_032119.4	NP_115495.3:p.(Gln526His)	NC_000005.9:g.89925095G>T	VUS	1 lab	8812b33ec8
X:91873534 PCDH11X G>A	X	91873534	91873534	G	A	PCDH11X	c.3639G>A	NM_032968.5	NP_116750.1:p.(Pro1213=)	NC_000023.10:g.91873534G>A	VUS	1 lab	8816f69fcc
5:11385201 CTNND2 C>CGCGGCG	5	11385201	11385220	C	CGCGGCG	CTNND2	c.747_752dup	NM_001332.4	NP_001323.1:p.(Ala250_Ala251dup)	NC_000005.9:g.11385215_11385220dup	VUS	1 lab	8817ab0a55
8:126052128 WASHC5 G>GC	8	126052128	126052129	G	GC	WASHC5	c.2862dup	NM_014846.4	NP_055661.3:p.(Gln955AlafsTer10)	NC_000008.10:g.126052129dup	VUS	1 lab	8819bed465
11:17190390 PIK3C2A G>A	11	17190390	17190390	G	A	PIK3C2A	c.899C>T	NM_002645.4	NP_002636.2:p.(Ala300Val)	NC_000011.9:g.17190390G>A	(Likely) benign	1 lab	8819f102e2
22:29092908 CHEK2 T>C	22	29092908	29092908	T	C	CHEK2	c.1076A>G	NM_007194.4	NP_009125.1:p.(Glu359Gly)	NC_000022.10:g.29092908T>C	VUS	1 lab	881ae31958
12:51446013 LETMD1 C>G	12	51446013	51446013	C	G	LETMD1	c.390+23C>G	NM_015416.5	NP_056231.3:p.?	NC_000012.11:g.51446013C>G	VUS	1 lab	881b047ded
2:149247738 MBD5 C>G	2	149247738	149247738	C	G	MBD5	c.4537C>G	NM_001378120.1	NP_001365049.1:p.(Leu1513Val)	NC_000002.11:g.149247738C>G	VUS	1 lab	881c9c23fd
16:2105907 TSC2 A>AT	16	2105907	2105908	A	AT	TSC2	c.600-290_600-289insT	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2105907_2105908insT	VUS	1 lab	881f301b27
16:721965 RHOT2 G>A	16	721965	721965	G	A	RHOT2	c.1060G>A	NM_138769.3	NP_620124.1:p.(Gly354Ser)	NC_000016.9:g.721965G>A	VUS	1 lab	881f3c10a7
2:33588471 LTBP1 C>A	2	33588471	33588471	C	A	LTBP1	c.4285C>A	NM_206943.4	NP_996826.3:p.(Leu1429Ile)	NC_000002.11:g.33588471C>A	VUS	1 lab	881fd2c09c
17:71203354 COG1 C>T	17	71203354	71203354	C	T	COG1	c.2764C>T	NM_018714.3	NP_061184.1:p.(Arg922Ter)	NC_000017.10:g.71203354C>T	(Likely) pathogenic	1 lab	882090d489
12:30814172 IPO8 C>A	12	30814172	30814172	C	A	IPO8	c.1784G>T	NM_006390.4	NP_006381.2:p.(Ser595Ile)	NC_000012.11:g.30814172C>A	VUS	1 lab	88216d0268
12:21615705 PYROXD1 T>C	12	21615705	21615705	T	C	PYROXD1	c.1025T>C	NM_024854.5	NP_079130.2:p.(Val342Ala)	NC_000012.11:g.21615705T>C	VUS	1 lab	88217297b9
4:1234839 CTBP1 C>T	4	1234839	1234839	C	T	CTBP1	c.7+274G>A	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1234839C>T	(Likely) benign	1 lab	8822277105
11:47305830 MADD C>T	11	47305830	47305830	C	T	MADD	c.1964C>T	NM_001376571.1	NP_001363500.1:p.(Pro655Leu)	NC_000011.9:g.47305830C>T	VUS	1 lab	88224447ca
16:56388794 GNAO1 A>T	16	56388794	56388794	A	T	GNAO1	c.894A>T	NM_020988.3	NP_066268.1:p.(Glu298Asp)	NC_000016.9:g.56388794A>T	VUS	1 lab	8824f79763
16:86602001 FOXC2 C>G	16	86602001	86602001	C	G	FOXC2	c.1060C>G	NM_005251.3	NP_005242.1:p.(Leu354Val)	NC_000016.9:g.86602001C>G	VUS	1 lab	882517937c
20:44520260 CTSA TG>T	20	44520260	44520261	TG	T	CTSA	c.54del	NM_000308.4	NP_000299.3:p.(Leu19Ter)	NC_000020.10:g.44520261del	VUS	1 lab	882658f9f3
16:1413061 GNPTG G>A	16	1413061	1413061	G	A	GNPTG	c.887G>A	NM_032520.5	NP_115909.1:p.(Arg296Gln)	NC_000016.9:g.1413061G>A	VUS	1 lab	8826900215
2:71738921 DYSF G>A	2	71738921	71738921	G	A	DYSF	c.346-16G>A	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71738921G>A	(Likely) benign	1 lab	8826acdfcf
15:41021831 RAD51 A>C	15	41021831	41021831	A	C	RAD51	c.773A>C	NM_002875.5	NP_002866.2:p.(Glu258Ala)	NC_000015.9:g.41021831A>C	VUS	1 lab	8826be1fe4
X:86887299 KLHL4 G>A	X	86887299	86887299	G	A	KLHL4	c.1414G>A	NM_019117.5	NP_061990.2:p.(Ala472Thr)	NC_000023.10:g.86887299G>A	(Likely) benign	1 lab	8826e15f6b
1:159902414 IGSF9 C>G	1	159902414	159902414	C	G	IGSF9	c.1133G>C	NM_001135050.2	NP_001128522.1:p.(Gly378Ala)	NC_000001.10:g.159902414C>G	(Likely) benign	1 lab	882741ac4a
1:100960411 CDC14A G>T	1	100960411	100960411	G	T	CDC14A	c.1175G>T	NM_003672.4	NP_003663.2:p.(Gly392Val)	NC_000001.10:g.100960411G>T	(Likely) benign	1 lab	8827bbfab0
X:11783624 MSL3 A>G	X	11783624	11783624	A	G	MSL3	c.947A>G	NM_078629.4	NP_523353.2:p.(Asn316Ser)	NC_000023.10:g.11783624A>G	VUS	1 lab	88282be0ab
1:43898737 SZT2 C>T	1	43898737	43898737	C	T	SZT2	c.5680C>T	NM_001365999.1	NP_001352928.1:p.(Arg1894Trp)	NC_000001.10:g.43898737C>T	VUS	1 lab	882a6d30f4
3:114069691 ZBTB20 C>T	3	114069691	114069691	C	T	ZBTB20	c.1234G>A	NM_001348800.3	NP_001335729.1:p.(Ala412Thr)	NC_000003.11:g.114069691C>T	(Likely) benign	1 lab	882a6fe915
17:48655603 CACNA1G G>A	17	48655603	48655603	G	A	CACNA1G	c.1979G>A	NM_018896.5	NP_061496.2:p.(Gly660Glu)	NC_000017.10:g.48655603G>A	VUS	1 lab	882d05284b
7:87763737 ADAM22 AAGTTTTAGTACATGTGTGGTT>A	7	87763737	87763762	AAGTTTTAGTACATGTGTGGTT	A	ADAM22	c.1168+8_1168+28del	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87763742_87763762del	(Likely) benign	1 lab	882da13a3f
1:22203076 HSPG2 C>T	1	22203076	22203076	C	T	HSPG2	c.2755G>A	NM_005529.7	NP_005520.4:p.(Asp919Asn)	NC_000001.10:g.22203076C>T	(Likely) benign	1 lab	882e6d807a
19:46269632 SIX5 G>A	19	46269632	46269632	G	A	SIX5	c.1585C>T	NM_175875.5	NP_787071.3:p.(Gln529Ter)	NC_000019.9:g.46269632G>A	(Likely) pathogenic	1 lab	24e369a52f
12:56563563 SMARCC2 T>C	12	56563563	56563563	T	C	SMARCC2	c.2545A>G	NM_001330288.2	NP_001317217.1:p.(Ile849Val)	NC_000012.11:g.56563563T>C	(Likely) benign	1 lab	882f3bc4f9
10:50723612 ERCC6 G>A	10	50723612	50723612	G	A	ERCC6	c.1397+8467C>T	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50723612G>A	VUS	1 lab	882f682144
4:91321190 CCSER1 G>A	4	91321190	91321190	G	A	CCSER1	c.1513G>A	NM_001145065.2	NP_001138537.1:p.(Val505Ile)	NC_000004.11:g.91321190G>A	VUS	1 lab	88301d2333
1:40557780 PPT1 G>C	1	40557780	40557780	G	C	PPT1	c.299C>G	NM_000310.4	NP_000301.1:p.(Ala100Gly)	NC_000001.10:g.40557780G>C	(Likely) benign	1 lab	883034717d
11:108128353 ATM G>C	11	108128353	108128353	G	C	ATM	c.2376+20G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128353G>C	(Likely) benign	1 lab	88303f3eff
7:44186188 GCK A>T	7	44186188	44186188	A	T	GCK	c.893T>A	NM_000162.5	NP_000153.1:p.(Met298Lys)	NC_000007.13:g.44186188A>T	VUS	1 lab	8830e4714d
12:6711123 CHD4 C>T	12	6711123	6711123	C	T	CHD4	c.438+3G>A	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6711123C>T	(Likely) benign	1 lab	8832ee2573
X:128944866 ZDHHC9 G>A	X	128944866	128944866	G	A	ZDHHC9	c.978+15C>T	NM_001008222.3	NP_001008223.1:p.?	NC_000023.10:g.128944866G>A	(Likely) benign	1 lab	264a1ad45f
12:48372450 COL2A1 C>A	12	48372450	48372450	C	A	COL2A1	c.2825G>T	NM_001844.5	NP_001835.3:p.(Gly942Val)	NC_000012.11:g.48372450C>A	(Likely) pathogenic	1 lab	8833ccef3e
6:109802475 ZBTB24 C>T	6	109802475	109802475	C	T	ZBTB24	c.755G>A	NM_014797.3	NP_055612.2:p.(Arg252Gln)	NC_000006.11:g.109802475C>T	VUS	1 lab	8834af308a
10:61834084 ANK3 C>A	10	61834084	61834084	C	A	ANK3	c.6555G>T	NM_020987.5	NP_066267.2:p.(Gln2185His)	NC_000010.10:g.61834084C>A	(Likely) benign	1 lab	8835073032
4:40119617 N4BP2 C>T	4	40119617	40119617	C	T	N4BP2	c.1793C>T	NM_018177.6	NP_060647.2:p.(Ala598Val)	NC_000004.11:g.40119617C>T	VUS	1 lab	88358136e5
2:97008971 NCAPH A>G	2	97008971	97008971	A	G	NCAPH	c.524A>G	NM_015341.5	NP_056156.2:p.(Asp175Gly)	NC_000002.11:g.97008971A>G	VUS	1 lab	88363b28d9
12:45782033 ANO6 C>T	12	45782033	45782033	C	T	ANO6	c.1255C>T	NM_001025356.3	NP_001020527.2:p.(Arg419Ter)	NC_000012.11:g.45782033C>T	VUS	1 lab	883689f781
X:46618382 SLC9A7 A>AGCAGCG	X	46618382	46618393	A	AGCAGCG	SLC9A7	c.77_82dup	NM_001257291.2	NP_001244220.1:p.(Pro26_Leu27dup)	NC_000023.10:g.46618388_46618393dup	VUS	1 lab	8838b035a3
7:103136333 RELN T>C	7	103136333	103136333	T	C	RELN	c.9206A>G	NM_005045.4	NP_005036.2:p.(His3069Arg)	NC_000007.13:g.103136333T>C	VUS	1 lab	264a8032f9
16:1413031 GNPTG C>T	16	1413031	1413031	C	T	GNPTG	c.857C>T	NM_032520.5	NP_115909.1:p.(Thr286Met)	NC_000016.9:g.1413031C>T	(Likely) benign	1 lab	8839ab265c
15:48808506 FBN1 A>T	15	48808506	48808506	A	T	FBN1	c.1201T>A	NM_000138.5	NP_000129.3:p.(Tyr401Asn)	NC_000015.9:g.48808506A>T	VUS	1 lab	883ab2c98a
1:154164403 TPM3 T>G	1	154164403	154164403	T	G	TPM3	c.92A>C	NM_152263.4	NP_689476.2:p.(Lys31Thr)	NC_000001.10:g.154164403T>G	(Likely) benign	1 lab	883acf7a49
19:3637614 PIP5K1C G>A	19	3637614	3637614	G	A	PIP5K1C	c.1920+1268C>T	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3637614G>A	(Likely) benign	1 lab	883cc01f22
19:38995391 RYR1 T>C	19	38995391	38995391	T	C	RYR1	c.8071T>C	NM_000540.3	NP_000531.2:p.(Tyr2691His)	NC_000019.9:g.38995391T>C	VUS	1 lab	883d5e34eb
17:66551763 FAM20A G>C	17	66551763	66551763	G	C	FAM20A	c.526C>G	NM_017565.4	NP_060035.2:p.(Arg176Gly)	NC_000017.10:g.66551763G>C	VUS	1 lab	883e3b96c7
6:152680445 SYNE1 C>T	6	152680445	152680445	C	T	SYNE1	c.10464+5G>A	NM_033071.4	NP_149062.2:p.?	NC_000006.11:g.152680445C>T	(Likely) benign	1 lab	24e3b3b0e3
8:113267554 CSMD3 A>G	8	113267554	113267554	A	G	CSMD3	c.9965T>C	NM_198123.2	NP_937756.1:p.(Ile3322Thr)	NC_000008.10:g.113267554A>G	(Likely) benign	1 lab	883fdf7393
2:88887604 EIF2AK3 G>C	2	88887604	88887604	G	C	EIF2AK3	c.1325C>G	NM_004836.7	NP_004827.4:p.(Pro442Arg)	NC_000002.11:g.88887604G>C	(Likely) benign	1 lab	884129c153
21:47532005 COL6A2 G>T	21	47532005	47532005	G	T	COL6A2	c.228G>T	NM_001849.4	NP_001840.3:p.(Gln76His)	NC_000021.8:g.47532005G>T	VUS	1 lab	88412a32e8
16:3777990 CREBBP C>T	16	3777990	3777990	C	T	CREBBP	c.7058G>A	NM_004380.3	NP_004371.2:p.(Arg2353Gln)	NC_000016.9:g.3777990C>T	VUS	1 lab	8842704bff
1:39827025 MACF1 A>C	1	39827025	39827025	A	C	MACF1	c.12454-7A>C	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39827025A>C	(Likely) benign	1 lab	8843941e39
5:1801568 NDUFS6 C>A	5	1801568	1801568	C	A	NDUFS6	c.37C>A	NM_004553.6	NP_004544.1:p.(Arg13=)	NC_000005.9:g.1801568C>A	VUS	1 lab	884550c2e2
1:150482157 ECM1 T>C	1	150482157	150482157	T	C	ECM1	c.142T>C	NM_004425.4	NP_004416.2:p.(Ser48Pro)	NC_000001.10:g.150482157T>C	(Likely) benign	1 lab	884568ab88
10:89473069 PAPSS2 T>TAAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAAA	PAPSS2	c.381+13_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473080_89473091dup	(Likely) benign	1 lab	8845931bbc
15:90185490 KIF7 G>A	15	90185490	90185490	G	A	KIF7	c.2338C>T	NM_198525.3	NP_940927.2:p.(Arg780Trp)	NC_000015.9:g.90185490G>A	VUS	1 lab	884751c162
1:103540260 COL11A1 G>T	1	103540260	103540260	G	T	COL11A1	c.565C>A	NM_001854.4	NP_001845.3:p.(Pro189Thr)	NC_000001.10:g.103540260G>T	VUS	1 lab	884986f24a
2:179416572 TTN C>T	2	179416572	179416572	C	T	TTN	c.91055G>A	NM_001267550.2	NP_001254479.2:p.(Gly30352Asp)	NC_000002.11:g.179416572C>T	VUS	1 lab	8849c56a71
10:94368878 KIF11 C>G	10	94368878	94368878	C	G	KIF11	c.489C>G	NM_004523.4	NP_004514.2:p.(Ile163Met)	NC_000010.10:g.94368878C>G	VUS	1 lab	8849fa8924
X:117526761 WDR44 C>T	X	117526761	117526761	C	T	WDR44	c.353C>T	NM_019045.5	NP_061918.3:p.(Pro118Leu)	NC_000023.10:g.117526761C>T	VUS	1 lab	884a0879e7
X:24382955 SUPT20HL1 C>G	X	24382955	24382955	C	G	SUPT20HL1	c.2078C>G	NM_001136234.3	NP_001129706.3:p.(Ser693Trp)	NC_000023.10:g.24382955C>G	VUS	1 lab	884bd7dcf9
X:55117022 PAGE2 C>G	X	55117022	55117022	C	G	PAGE2	c.172C>G	NM_207339.4	NP_997222.1:p.(Gln58Glu)	NC_000023.10:g.55117022C>G	VUS	1 lab	884c371c64
2:176957916 HOXD13 G>C	2	176957916	176957916	G	C	HOXD13	c.298G>C	NM_000523.4	NP_000514.2:p.(Glu100Gln)	NC_000002.11:g.176957916G>C	VUS	1 lab	884c40a03e
5:71491556 MAP1B G>A	5	71491556	71491556	G	A	MAP1B	c.2374G>A	NM_005909.5	NP_005900.2:p.(Ala792Thr)	NC_000005.9:g.71491556G>A	(Likely) benign	1 lab	884c4ef417
16:27781168 KATNIP C>T	16	27781168	27781168	C	T	KATNIP	c.3976-14C>T	NM_015202.5	NP_056017.4:p.?	NC_000016.9:g.27781168C>T	(Likely) benign	1 lab	884e548273
1:150779230 CTSK G>C	1	150779230	150779230	G	C	CTSK	c.52C>G	NM_000396.4	NP_000387.1:p.(Pro18Ala)	NC_000001.10:g.150779230G>C	VUS	1 lab	884ea9170c
7:94040224 COL1A2 TC>CT	7	94040224	94040225	TC	CT	COL1A2	c.1221_1222delinsCT	NM_000089.4	NP_000080.2:p.(Pro408Ser)	NC_000007.13:g.94040224_94040225delinsCT	VUS	1 lab	884eb1f5f0
2:152473984 NEB T>A	2	152473984	152473984	T	A	NEB	c.11077-2A>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473984T>A	(Likely) benign	1 lab	884fda08d6
1:152285138 FLG A>G	1	152285138	152285138	A	G	FLG	c.2224T>C	NM_002016.2	NP_002007.1:p.(Ser742Pro)	NC_000001.10:g.152285138A>G	(Likely) benign	1 lab	88511da88e
17:60088490 MED13 T>C	17	60088490	60088490	T	C	MED13	c.1388A>G	NM_005121.3	NP_005112.2:p.(Glu463Gly)	NC_000017.10:g.60088490T>C	(Likely) benign	1 lab	8851264ef1
4:83557867 SCD5 G>A	4	83557867	83557867	G	A	SCD5	c.679C>T	NM_001037582.3	NP_001032671.2:p.(Arg227Cys)	NC_000004.11:g.83557867G>A	(Likely) benign	1 lab	8852d8e603
11:107375937 ALKBH8 C>T	11	107375937	107375937	C	T	ALKBH8	c.1442G>A	NM_138775.3	NP_620130.2:p.(Arg481His)	NC_000011.9:g.107375937C>T	VUS	1 lab	8854ebf2a2
18:55398881 ATP8B1 C>A	18	55398881	55398881	C	A	ATP8B1	c.159G>T	NM_001374385.1	NP_001361314.1:p.(Glu53Asp)	NC_000018.9:g.55398881C>A	(Likely) benign	1 lab	8855711318
2:166892444 SCN1A TAAAAA>T	2	166892444	166892459	TAAAAA	T	SCN1A	c.3429+109_3429+113del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166892455_166892459del	(Likely) benign	1 lab	26506b631c
2:208993118 CRYGC T>A	2	208993118	208993118	T	A	CRYGC	c.334A>T	NM_020989.4	NP_066269.1:p.(Ile112Phe)	NC_000002.11:g.208993118T>A	(Likely) benign	1 lab	8857ac2e95
16:80642082 CDYL2 G>C	16	80642082	80642082	G	C	CDYL2	c.1269C>G	NM_152342.4	NP_689555.2:p.(Cys423Trp)	NC_000016.9:g.80642082G>C	VUS	1 lab	8857aed226
1:229588299 NUP133 T>C	1	229588299	229588299	T	C	NUP133	c.3072A>G	NM_018230.3	NP_060700.2:p.(Pro1024=)	NC_000001.10:g.229588299T>C	VUS	1 lab	8857dc4c5e
12:90035958 ATP2B1 T>C	12	90035958	90035958	T	C	ATP2B1	c.383A>G	NM_001366521.1	NP_001353450.1:p.(Gln128Arg)	NC_000012.11:g.90035958T>C	VUS	1 lab	88593d4336
1:6505836 ESPN CAGCTT>C	1	6505836	6505841	CAGCTT	C	ESPN	c.1306_1310del	NM_031475.3	NP_113663.2:p.(Ser436ProfsTer31)	NC_000001.10:g.6505837_6505841del	VUS	1 lab	885ad62e72
6:158484904 SYNJ2 G>C	6	158484904	158484904	G	C	SYNJ2	c.1209G>C	NM_003898.4	NP_003889.1:p.(Glu403Asp)	NC_000006.11:g.158484904G>C	(Likely) benign	1 lab	885d9748be
9:2033091 SMARCA2 C>T	9	2033091	2033091	C	T	SMARCA2	c.355+10C>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2033091C>T	(Likely) benign	1 lab	885ee98a83
1:23240250 EPHB2 A>T	1	23240250	23240250	A	T	EPHB2	c.*187A>T	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23240250A>T	(Likely) benign	1 lab	885f346e0e
7:102108268 LRWD1 A>C	7	102108268	102108268	A	C	LRWD1	c.676A>C	NM_152892.3	NP_690852.1:p.(Arg226=)	NC_000007.13:g.102108268A>C	VUS	1 lab	8862aee777
17:10535968 MYH3 G>A	17	10535968	10535968	G	A	MYH3	c.4781C>T	NM_002470.4	NP_002461.2:p.(Thr1594Ile)	NC_000017.10:g.10535968G>A	VUS	1 lab	88633335cf
9:100839202 NANS G>A	9	100839202	100839202	G	A	NANS	c.351G>A	NM_018946.4	NP_061819.2:p.(Met117Ile)	NC_000009.11:g.100839202G>A	(Likely) benign	1 lab	88652a133d
2:166904265 SCN1A C>T	2	166904265	166904265	C	T	SCN1A	c.1042G>A	NM_001202435.3	NP_001189364.1:p.(Gly348Arg)	NC_000002.11:g.166904265C>T	VUS	1 lab	24e63b9b5e
15:48703245 FBN1 T>G	15	48703245	48703245	T	G	FBN1	c.8558A>C	NM_000138.5	NP_000129.3:p.(Tyr2853Ser)	NC_000015.9:g.48703245T>G	VUS	1 lab	8868fde434
12:14794091 GUCY2C T>C	12	14794091	14794091	T	C	GUCY2C	c.1993A>G	NM_004963.4	NP_004954.2:p.(Ser665Gly)	NC_000012.11:g.14794091T>C	VUS	1 lab	8869e125de
9:6589362 GLDC T>TG	9	6589362	6589365	T	TG	GLDC	c.1483-71dup	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6589365dup	(Likely) benign	1 lab	2650704663
4:119950996 SYNPO2 C>T	4	119950996	119950996	C	T	SYNPO2	c.1070-4C>T	NM_133477.3	NP_597734.2:p.?	NC_000004.11:g.119950996C>T	(Likely) benign	1 lab	886d82a67f
19:54649672 CNOT3 C>G	19	54649672	54649672	C	G	CNOT3	c.730C>G	NM_014516.4	NP_055331.1:p.(Pro244Ala)	NC_000019.9:g.54649672C>G	(Likely) benign	1 lab	886e93c279
12:111471992 CUX2 A>G	12	111471992	111471992	A	G	CUX2	c.11A>G	NM_015267.4	NP_056082.2:p.(Asn4Ser)	NC_000012.11:g.111471992A>G	VUS	1 lab	886efd3e48
10:123274678 FGFR2 C>T	10	123274678	123274678	C	T	FGFR2	c.1240G>A	NM_000141.5	NP_000132.3:p.(Ala414Thr)	NC_000010.10:g.123274678C>T	(Likely) benign	1 lab	887025419d
4:184174909 WWC2 G>T	4	184174909	184174909	G	T	WWC2	c.954-1G>T	NM_024949.6	NP_079225.5:p.?	NC_000004.11:g.184174909G>T	(Likely) benign	1 lab	887206a69f
16:19619530 VPS35L C>T	16	19619530	19619530	C	T	VPS35L	c.815C>T	NM_020314.7	NP_064710.5:p.(Thr272Met)	NC_000016.9:g.19619530C>T	(Likely) benign	1 lab	887209af5e
X:73961640 NEXMIF C>A	X	73961640	73961640	C	A	NEXMIF	c.2752G>T	NM_001008537.3	NP_001008537.1:p.(Ala918Ser)	NC_000023.10:g.73961640C>A	VUS	1 lab	8874185684
9:13162757 MPDZ T>C	9	13162757	13162757	T	C	MPDZ	c.3292A>G	NM_001378778.1	NP_001365707.1:p.(Lys1098Glu)	NC_000009.11:g.13162757T>C	(Likely) benign	1 lab	88775dc5c0
11:70506021 SHANK2 G>C	11	70506021	70506021	G	C	SHANK2	c.1973C>G	NM_012309.5	NP_036441.2:p.(Ala658Gly)	NC_000011.9:g.70506021G>C	(Likely) benign	1 lab	8878c61d1c
20:982757 RSPO4 C>A	20	982757	982757	C	A	RSPO4	c.51G>T	NM_001029871.4	NP_001025042.2:p.(Met17Ile)	NC_000020.10:g.982757C>A	(Likely) benign	1 lab	8878ee78ed
16:17232220 XYLT1 G>A	16	17232220	17232220	G	A	XYLT1	c.1756C>T	NM_022166.4	NP_071449.1:p.(Arg586Cys)	NC_000016.9:g.17232220G>A	VUS	1 lab	8878ffd6e7
16:2287651 DNASE1L2 G>A	16	2287651	2287651	G	A	DNASE1L2	c.591+1G>A	NM_001374.3	NP_001365.1:p.?	NC_000016.9:g.2287651G>A	VUS	1 lab	88795348e4
17:38978662 KRT10 C>T	17	38978662	38978662	C	T	KRT10	c.176G>A	NM_000421.5	NP_000412.4:p.(Arg59His)	NC_000017.10:g.38978662C>T	VUS	1 lab	8879d58209
5:177022313 TMED9 C>T	5	177022313	177022313	C	T	TMED9	c.604C>T	NM_017510.6	NP_059980.2:p.(Arg202Trp)	NC_000005.9:g.177022313C>T	VUS	1 lab	8879d82a2c
12:32890847 DNM1L C>T	12	32890847	32890847	C	T	DNM1L	c.1645C>T	NM_012062.5	NP_036192.2:p.(Pro549Ser)	NC_000012.11:g.32890847C>T	VUS	1 lab	887a074818
16:2155361 PKD1 C>G	16	2155361	2155361	C	G	PKD1	c.7978G>C	NM_001009944.3	NP_001009944.3:p.(Asp2660His)	NC_000016.9:g.2155361C>G	VUS	1 lab	887aedb9f5
14:105239823 AKT1 G>A	14	105239823	105239823	G	A	AKT1	c.797C>T	NM_001382430.1	NP_001369359.1:p.(Ser266Leu)	NC_000014.8:g.105239823G>A	(Likely) benign	1 lab	887b7ffa33
9:113562989 MUSK C>G	9	113562989	113562989	C	G	MUSK	c.2331C>G	NM_005592.4	NP_005583.1:p.(Asn777Lys)	NC_000009.11:g.113562989C>G	VUS	1 lab	887bc2efcd
X:152663640 PNMA6E A>G	X	152663640	152663640	A	G	PNMA6E	c.668T>C	NM_001367770.1	NP_001354699.1:p.(Val223Ala)	NC_000023.10:g.152663640A>G	(Likely) benign	1 lab	887c9605de
3:145804593 PLOD2 C>T	3	145804593	145804593	C	T	PLOD2	c.1108G>A	NM_182943.3	NP_891988.1:p.(Glu370Lys)	NC_000003.11:g.145804593C>T	(Likely) benign	1 lab	887cdc5277
12:39840794 KIF21A G>A	12	39840794	39840794	G	A	KIF21A				NC_000012.11:g.39840794G>A	(Likely) benign	1 lab	887d38bd1c
2:233194539 DIS3L2 A>G	2	233194539	233194539	A	G	DIS3L2	c.1756A>G	NM_152383.5	NP_689596.4:p.(Met586Val)	NC_000002.11:g.233194539A>G	VUS	1 lab	8881bdf261
X:147030266 FMR1 G>A	X	147030266	147030266	G	A	FMR1	c.1801G>A	NM_002024.6	NP_002015.1:p.(Glu601Lys)	NC_000023.10:g.147030266G>A	VUS	1 lab	24e7836802
7:141708305 MGAM GCCCCAGATCCTGGGACAACTGGTA>G	7	141708305	141708366	GCCCCAGATCCTGGGACAACTGGTA	G	MGAM	c.165_188del	NM_001365693.1	NP_001352622.1:p.(Pro60_Thr67del)	NC_000007.13:g.141708343_141708366del	(Likely) benign	1 lab	8882aa4981
20:62178624 SRMS G>A	20	62178624	62178624	G	A	SRMS	c.193C>T	NM_080823.4	NP_543013.1:p.(Arg65Trp)	NC_000020.10:g.62178624G>A	VUS	1 lab	88830216d8
17:61498073 TANC2 C>G	17	61498073	61498073	C	G	TANC2	c.4982C>G	NM_001394998.1	NP_001381927.1:p.(Pro1661Arg)	NC_000017.10:g.61498073C>G	VUS	1 lab	88831e8a98
22:50962854 SCO2 C>T	22	50962854	50962854	C	T	SCO2	c.-13-1G>A	NM_005138.3	NP_005129.2:p.?	NC_000022.10:g.50962854C>T	VUS	1 lab	8885337daa
X:19379453 PDHA1 T>C	X	19379453	19379453	T	C	PDHA1	c.*1682T>C	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19379453T>C	(Likely) benign	1 lab	8885e0f53d
22:38559448 PLA2G6 C>A	22	38559448	38559448	C	A	PLA2G6	c.209+5777G>T	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38559448C>A	(Likely) benign	1 lab	24e7fbbccc
13:111141805 COL4A2 C>G	13	111141805	111141805	C	G	COL4A2	c.3221C>G	NM_001846.4	NP_001837.2:p.(Ala1074Gly)	NC_000013.10:g.111141805C>G	VUS	1 lab	8887134530
4:190989333 MISSING T>A	4	190989333	190989333	T	A	MISSING				NC_000004.11:g.190989333T>A	(Likely) benign	1 lab	8887f5eebd
11:71146886 DHCR7 C>A	11	71146886	71146886	C	A	DHCR7	c.964-1G>T	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71146886C>A	(Likely) pathogenic	1 lab	888a8de188
3:4842169 ITPR1 T>C	3	4842169	4842169	T	C	ITPR1	c.6992T>C	NM_001378452.1	NP_001365381.1:p.(Ile2331Thr)	NC_000003.11:g.4842169T>C	VUS	1 lab	888ae271e7
4:96046151 BMPR1B C>G	4	96046151	96046151	C	G	BMPR1B	c.464C>G	NM_001203.3	NP_001194.1:p.(Thr155Ser)	NC_000004.11:g.96046151C>G	VUS	1 lab	888cc71cba
13:111125440 COL4A2 C>G	13	111125440	111125440	C	G	COL4A2	c.2368C>G	NM_001846.4	NP_001837.2:p.(Pro790Ala)	NC_000013.10:g.111125440C>G	(Likely) benign	1 lab	888d19307f
3:160137171 SMC4 C>A	3	160137171	160137171	C	A	SMC4	c.1697C>A	NM_001002800.3	NP_001002800.1:p.(Thr566Lys)	NC_000003.11:g.160137171C>A	(Likely) benign	1 lab	888f836385
7:36461502 ANLN A>T	7	36461502	36461502	A	T	ANLN	c.2200A>T	NM_018685.5	NP_061155.2:p.(Ile734Phe)	NC_000007.13:g.36461502A>T	VUS	1 lab	2657d11dfe
1:19566877 EMC1 C>T	1	19566877	19566877	C	T	EMC1	c.700G>A	NM_015047.3	NP_055862.1:p.(Val234Ile)	NC_000001.10:g.19566877C>T	VUS	1 lab	8892dfabb9
11:66472595 SPTBN2 C>G	11	66472595	66472595	C	G	SPTBN2	c.2152G>C	NM_006946.4	NP_008877.2:p.(Ala718Pro)	NC_000011.9:g.66472595C>G	VUS	1 lab	8892f86270
4:1807532 FGFR3 G>C	4	1807532	1807532	G	C	FGFR3	c.1701G>C	NM_000142.5	NP_000133.1:p.(Leu567=)	NC_000004.11:g.1807532G>C	(Likely) benign	1 lab	8892fe151c
16:1498757 CLCN7 T>C	16	1498757	1498757	T	C	CLCN7	c.1808A>G	NM_001287.6	NP_001278.1:p.(Asp603Gly)	NC_000016.9:g.1498757T>C	VUS	1 lab	88931e79e3
3:121976151 CASR T>C	3	121976151	121976151	T	C	CASR	c.409T>C	NM_000388.4	NP_000379.3:p.(Ser137Pro)	NC_000003.11:g.121976151T>C	(Likely) pathogenic	1 lab	24e9aac657
7:96635363 DLX6 G>GGCAGCAGCAGCAGCAGCAGCAGCAACA	7	96635363	96635411	G	GGCAGCAGCAGCAGCAGCAGCAGCAACA	DLX6	c.96_122dup	NM_005222.4	NP_005213.3:p.(Gln36_Gln44dup)	NC_000007.13:g.96635385_96635411dup	VUS	1 lab	8899cdb39d
11:126144865 FOXRED1 C>T	11	126144865	126144865	C	T	FOXRED1	c.580C>T	NM_017547.4	NP_060017.1:p.(Arg194Trp)	NC_000011.9:g.126144865C>T	VUS	1 lab	24f169af31
3:134873014 EPHB1 A>G	3	134873014	134873014	A	G	EPHB1	c.1318A>G	NM_004441.5	NP_004432.1:p.(Met440Val)	NC_000003.11:g.134873014A>G	VUS	1 lab	889c41f476
8:73921283 TERF1 C>CGAG	8	73921283	73921309	C	CGAG	TERF1	c.186_188dup	NM_017489.3	NP_059523.2:p.(Glu62dup)	NC_000008.10:g.73921307_73921309dup	(Likely) benign	1 lab	889e50ce56
9:116925024 COL27A1 C>G	9	116925024	116925024	C	G	COL27A1	c.92C>G	NM_032888.4	NP_116277.2:p.(Ser31Trp)	NC_000009.11:g.116925024C>G	VUS	1 lab	889e51172a
16:75579789 TMEM231 G>C	16	75579789	75579789	G	C	TMEM231	c.373C>G	NM_001077418.3	NP_001070886.1:p.(Pro125Ala)	NC_000016.9:g.75579789G>C	(Likely) pathogenic	1 lab	889eb774dd
16:2815967 SRRM2 G>C	16	2815967	2815967	G	C	SRRM2	c.5438G>C	NM_016333.4	NP_057417.3:p.(Arg1813Pro)	NC_000016.9:g.2815967G>C	(Likely) benign	1 lab	889f14c3f2
16:75269194 BCAR1 G>A	16	75269194	75269194	G	A	BCAR1	c.1603C>T	NM_014567.5	NP_055382.2:p.(Arg535Cys)	NC_000016.9:g.75269194G>A	VUS	1 lab	88a0ac2bdf
9:140509239 ARRDC1 C>T	9	140509239	140509239	C	T	ARRDC1	c.1024C>T	NM_152285.4	NP_689498.1:p.(Arg342Trp)	NC_000009.11:g.140509239C>T	(Likely) benign	1 lab	88a16b07aa
19:7117079 INSR G>A	19	7117079	7117079	G	A	INSR	c.4137C>T	NM_000208.4	NP_000199.2:p.(Ser1379=)	NC_000019.9:g.7117079G>A	(Likely) benign	1 lab	88a30fe2b9
15:93563368 CHD2 G>A	15	93563368	93563368	G	A	CHD2	c.5033G>A	NM_001271.4	NP_001262.3:p.(Arg1678Gln)	NC_000015.9:g.93563368G>A	(Likely) benign	1 lab	88a4aeb665
13:111315808 CARS2 A>G	13	111315808	111315808	A	G	CARS2	c.977T>C	NM_024537.4	NP_078813.1:p.(Ile326Thr)	NC_000013.10:g.111315808A>G	VUS	1 lab	88a62627ef
15:64737274 TRIP4 G>C	15	64737274	64737274	G	C	TRIP4	c.1645G>C	NM_016213.5	NP_057297.2:p.(Val549Leu)	NC_000015.9:g.64737274G>C	(Likely) benign	1 lab	88a804dcb2
16:2816201 SRRM2 G>A	16	2816201	2816201	G	A	SRRM2	c.5672G>A	NM_016333.4	NP_057417.3:p.(Arg1891Gln)	NC_000016.9:g.2816201G>A	(Likely) benign	1 lab	88a8afb269
12:53343069 KRT18 G>T	12	53343069	53343069	G	T	KRT18	c.112G>T	NM_000224.3	NP_000215.1:p.(Gly38Cys)	NC_000012.11:g.53343069G>T	(Likely) benign	1 lab	88a8f2c321
10:134750555 CFAP46 C>T	10	134750555	134750555	C	T	CFAP46	c.665G>A	NM_001200049.3	NP_001186978.2:p.(Arg222His)	NC_000010.10:g.134750555C>T	(Likely) benign	1 lab	88a95a7a51
X:109561086 AMMECR1 G>C	X	109561086	109561086	G	C	AMMECR1	c.214C>G	NM_015365.3	NP_056180.1:p.(Pro72Ala)	NC_000023.10:g.109561086G>C	VUS	1 lab	88ab68efc0
9:139401384 NOTCH1 C>CG	9	139401384	139401390	C	CG	NOTCH1	c.3684dup	NM_017617.5	NP_060087.3:p.(Val1229ArgfsTer2)	NC_000009.11:g.139401390dup	VUS	1 lab	88ac4f824e
13:28609624 FLT3 T>C	13	28609624	28609624	T	C	FLT3	c.1597+8A>G	NM_004119.3	NP_004110.2:p.?	NC_000013.10:g.28609624T>C	(Likely) benign	1 lab	88acaa672b
20:60902366 LAMA5 G>A	20	60902366	60902366	G	A	LAMA5	c.5035C>T	NM_005560.6	NP_005551.3:p.(Arg1679Trp)	NC_000020.10:g.60902366G>A	(Likely) benign	1 lab	88add430c7
1:149903313 MTMR11 C>T	1	149903313	149903313	C	T	MTMR11	c.1129G>A	NM_001145862.2	NP_001139334.1:p.(Gly377Ser)	NC_000001.10:g.149903313C>T	(Likely) benign	1 lab	88b16702a2
9:34637558 SIGMAR1 G>T	9	34637558	34637558	G	T	SIGMAR1	c.137C>A	NM_005866.4	NP_005857.1:p.(Ala46Glu)	NC_000009.11:g.34637558G>T	VUS	1 lab	265f71ddef
2:174074554 MAP3K20 C>T	2	174074554	174074554	C	T	MAP3K20	c.842C>T	NM_016653.3	NP_057737.2:p.(Ala281Val)	NC_000002.11:g.174074554C>T	VUS	1 lab	88b2c66453
4:55561861 KIT C>T	4	55561861	55561861	C	T	KIT	c.251C>T	NM_000222.3	NP_000213.1:p.(Thr84Met)	NC_000004.11:g.55561861C>T	VUS	1 lab	88b5ab53ac
19:17007363 CPAMD8 C>T	19	17007363	17007363	C	T	CPAMD8	c.5179G>A	NM_015692.5	NP_056507.3:p.(Asp1727Asn)	NC_000019.9:g.17007363C>T	(Likely) benign	1 lab	88b722001a
2:33588519 LTBP1 C>T	2	33588519	33588519	C	T	LTBP1	c.4333C>T	NM_206943.4	NP_996826.3:p.(Arg1445Trp)	NC_000002.11:g.33588519C>T	VUS	1 lab	88b7236215
11:102826017 MMP13 C>A	11	102826017	102826017	C	A	MMP13	c.326G>T	NM_002427.4	NP_002418.1:p.(Arg109Leu)	NC_000011.9:g.102826017C>A	VUS	1 lab	88b8329494
X:45051057 DIPK2B C>T	X	45051057	45051057	C	T	DIPK2B	c.437G>A	NM_176819.4	NP_789789.2:p.(Arg146Gln)	NC_000023.10:g.45051057C>T	VUS	1 lab	88b9127b4c
9:138641968 KCNT1 C>T	9	138641968	138641968	C	T	KCNT1	c.279C>T	NM_020822.2	NP_065873.2:p.(Asn93=)	NC_000009.11:g.138641968C>T	(Likely) benign	1 lab	26612a3429
1:160093692 ATP1A2 G>T	1	160093692	160093692	G	T	ATP1A2				NC_000001.10:g.160093692G>T	(Likely) benign	1 lab	26636431f3
19:14208177 PRKACA C>G	19	14208177	14208177	C	G	PRKACA	c.761G>C	NM_002730.4	NP_002721.1:p.(Gly254Ala)	NC_000019.9:g.14208177C>G	VUS	1 lab	88b94797b8
X:22244612 PHEX G>A	X	22244612	22244612	G	A	PHEX	c.1952G>A	NM_000444.6	NP_000435.3:p.(Arg651Gln)	NC_000023.10:g.22244612G>A	(Likely) benign	1 lab	88b9b1af37
20:2446354 SNRPB A>G	20	2446354	2446354	A	G	SNRPB	c.267T>C	NM_003091.4	NP_003082.1:p.(Asp89=)	NC_000020.10:g.2446354A>G	(Likely) benign	1 lab	88b9de879e
10:119303008 EMX2 A>AC	10	119303008	119303011	A	AC	EMX2	c.233dup	NM_004098.4	NP_004089.1:p.(Pro79AlafsTer62)	NC_000010.10:g.119303011dup	(Likely) benign	1 lab	88bc965df8
3:48611280 COL7A1 G>A	3	48611280	48611280	G	A	COL7A1	c.6537+8C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48611280G>A	(Likely) benign	1 lab	88bcd43adf
19:54327122 NLRP12 G>A	19	54327122	54327122	G	A	NLRP12	c.289+18C>T	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54327122G>A	(Likely) benign	1 lab	2663a096e5
2:114002178 PAX8 C>T	2	114002178	114002178	C	T	PAX8	c.215G>A	NM_003466.4	NP_003457.1:p.(Arg72Gln)	NC_000002.11:g.114002178C>T	(Likely) benign	1 lab	88be67a3cc
1:22176557 HSPG2 C>G	1	22176557	22176557	C	G	HSPG2	c.7423G>C	NM_005529.7	NP_005520.4:p.(Gly2475Arg)	NC_000001.10:g.22176557C>G	VUS	1 lab	88bead4276
16:4743887 NUDT16L1 ACGGGCGAGGGCG>A	16	4743887	4743909	ACGGGCGAGGGCG	A	NUDT16L1	c.153+18_153+29del	NM_032349.4	NP_115725.1:p.?	NC_000016.9:g.4743898_4743909del	VUS	1 lab	88c0a222a1
X:148585691 IDS G>C	X	148585691	148585691	G	C	IDS	c.236C>G	NM_000202.8	NP_000193.1:p.(Ala79Gly)	NC_000023.10:g.148585691G>C	VUS	1 lab	88c10ebdbc
20:25062731 VSX1 A>T	20	25062731	25062731	A	T	VSX1	c.2T>A	NM_014588.6	NP_055403.2:p.(Met1?)	NC_000020.10:g.25062731A>T	(Likely) benign	1 lab	88c1503f79
2:75104414 HK2 C>T	2	75104414	75104414	C	T	HK2	c.997C>T	NM_000189.5	NP_000180.2:p.(Arg333Cys)	NC_000002.11:g.75104414C>T	(Likely) benign	1 lab	88c18d3a0f
1:26694199 ZNF683 C>T	1	26694199	26694199	C	T	ZNF683	c.204G>A	NM_001114759.3	NP_001108231.1:p.(Pro68=)	NC_000001.10:g.26694199C>T	(Likely) benign	1 lab	88c2f101ff
16:72821916 ZFHX3 T>G	16	72821916	72821916	T	G	ZFHX3	c.10259A>C	NM_006885.4	NP_008816.3:p.(Lys3420Thr)	NC_000016.9:g.72821916T>G	VUS	1 lab	88c4b86c65
15:89870473 POLG T>G	15	89870473	89870473	T	G	POLG	c.1358A>C	NM_002693.3	NP_002684.1:p.(Glu453Ala)	NC_000015.9:g.89870473T>G	VUS	1 lab	88c5090c24
8:27326868 CHRNA2 T>G	8	27326868	27326868	T	G	CHRNA2	c.323A>C	NM_000742.4	NP_000733.2:p.(Asn108Thr)	NC_000008.10:g.27326868T>G	VUS	1 lab	88c57be2f9
14:60923714 C14orf39 A>G	14	60923714	60923714	A	G	C14orf39	c.1279T>C	NM_174978.3	NP_777638.3:p.(Phe427Leu)	NC_000014.8:g.60923714A>G	(Likely) benign	1 lab	24f2f437f5
2:216288247 FN1 A>C	2	216288247	216288247	A	C	FN1	c.1219T>G	NM_212482.4	NP_997647.2:p.(Leu407Val)	NC_000002.11:g.216288247A>C	VUS	1 lab	88c6050a55
16:72991756 ZFHX3 C>CT	16	72991756	72991757	C	CT	ZFHX3	c.2288dup	NM_006885.4	NP_008816.3:p.(Gln764AlafsTer25)	NC_000016.9:g.72991757dup	VUS	1 lab	88c66c7d04
16:27763063 KATNIP A>G	16	27763063	27763063	A	G	KATNIP	c.3370A>G	NM_015202.5	NP_056017.4:p.(Ile1124Val)	NC_000016.9:g.27763063A>G	VUS	1 lab	88c88a21bf
17:62049790 SCN4A A>G	17	62049790	62049790	A	G	SCN4A	c.314T>C	NM_000334.4	NP_000325.4:p.(Phe105Ser)	NC_000017.10:g.62049790A>G	VUS	1 lab	88c8ec49f1
7:47898413 PKD1L1 C>A	7	47898413	47898413	C	A	PKD1L1	c.4220G>T	NM_138295.5	NP_612152.1:p.(Gly1407Val)	NC_000007.13:g.47898413C>A	(Likely) benign	1 lab	88ca9ff477
1:179544862 NPHS2 C>T	1	179544862	179544862	C	T	NPHS2	c.138G>A	NM_014625.3	NP_055440.1:p.(Ser46=)	NC_000001.10:g.179544862C>T	(Likely) benign	1 lab	26640930e6
9:2086660 SMARCA2 C>G	9	2086660	2086660	C	G	SMARCA2	c.2527-169C>G	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2086660C>G	(Likely) benign	1 lab	88ce5757fa
7:195681 FAM20C G>A	7	195681	195681	G	A	FAM20C	c.733G>A	NM_020223.4	NP_064608.2:p.(Ala245Thr)	NC_000007.13:g.195681G>A	(Likely) benign	1 lab	88cf180b2b
22:36177766 RBFOX2 CGTCT>C	22	36177766	36177776	CGTCT	C	RBFOX2	c.486_489del	NM_001082578.4	NP_001076047.2:p.(Asp163AlafsTer46)	NC_000022.10:g.36177773_36177776del	VUS	1 lab	24f9c06480
1:207697057 CR1 C>A	1	207697057	207697057	C	A	CR1	c.589C>A	NM_000651.6	NP_000642.3:p.(Pro197Thr)	NC_000001.10:g.207697057C>A	VUS	1 lab	88cfafd954
2:219516508 ZNF142 G>A	2	219516508	219516508	G	A	ZNF142	c.796C>T	NM_001379659.1	NP_001366588.1:p.(Arg266Trp)	NC_000002.11:g.219516508G>A	VUS	1 lab	88cfc233ad
17:33495229 UNC45B G>A	17	33495229	33495229	G	A	UNC45B	c.1301G>A	NM_001267052.2	NP_001253981.1:p.(Arg434His)	NC_000017.10:g.33495229G>A	(Likely) benign	1 lab	88cfca9475
16:88799047 PIEZO1 G>A	16	88799047	88799047	G	A	PIEZO1	c.2758C>T	NM_001142864.4	NP_001136336.2:p.(Arg920Trp)	NC_000016.9:g.88799047G>A	VUS	1 lab	88cfe8d908
16:2157941 PKD1 G>T	16	2157941	2157941	G	T	PKD1	c.7008C>A	NM_001009944.3	NP_001009944.3:p.(Tyr2336Ter)	NC_000016.9:g.2157941G>T	(Likely) pathogenic	1 lab	88d09bcc70
10:65225352 JMJD1C C>G	10	65225352	65225352	C	G	JMJD1C	c.71G>C	NM_032776.3	NP_116165.1:p.(Arg24Pro)	NC_000010.10:g.65225352C>G	(Likely) benign	1 lab	88d0ea03d6
11:11958016 USP47 C>T	11	11958016	11958016	C	T	USP47	c.2036C>T	NM_001282659.2	NP_001269588.1:p.(Thr679Met)	NC_000011.9:g.11958016C>T	(Likely) benign	1 lab	88d2a84122
1:12853509 PRAMEF1 A>C	1	12853509	12853509	A	C	PRAMEF1	c.133A>C	NM_023013.4	NP_075389.2:p.(Ser45Arg)	NC_000001.10:g.12853509A>C	(Likely) benign	1 lab	88d4e41c16
2:165994386 SCN3A T>C	2	165994386	165994386	T	C	SCN3A	c.2391+3A>G	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.165994386T>C	(Likely) benign	1 lab	88d67b4a05
8:21976477 HR G>T	8	21976477	21976477	G	T	HR	c.3199C>A	NM_005144.5	NP_005135.2:p.(Arg1067Ser)	NC_000008.10:g.21976477G>T	VUS	1 lab	88d729dcae
3:52396410 DNAH1 C>T	3	52396410	52396410	C	T	DNAH1	c.4987C>T	NM_015512.5	NP_056327.4:p.(Arg1663Cys)	NC_000003.11:g.52396410C>T	(Likely) benign	1 lab	88d74321d3
15:42979226 STARD9 C>G	15	42979226	42979226	C	G	STARD9	c.5450C>G	NM_020759.3	NP_065810.2:p.(Ala1817Gly)	NC_000015.9:g.42979226C>G	(Likely) benign	1 lab	88d90797b7
7:128470802 FLNC C>G	7	128470802	128470802	C	G	FLNC	c.111C>G	NM_001458.5	NP_001449.3:p.(Ile37Met)	NC_000007.13:g.128470802C>G	VUS	1 lab	24fb5e6e5c
1:176564698 PAPPA2 G>A	1	176564698	176564698	G	A	PAPPA2	c.1958G>A	NM_020318.3	NP_064714.2:p.(Arg653His)	NC_000001.10:g.176564698G>A	(Likely) benign	1 lab	88d97fc979
15:78786331 IREB2 T>C	15	78786331	78786331	T	C	IREB2	c.2405T>C	NM_004136.4	NP_004127.2:p.(Ile802Thr)	NC_000015.9:g.78786331T>C	VUS	1 lab	88dbe1046e
10:61828890 ANK3 T>C	10	61828890	61828890	T	C	ANK3	c.11749A>G	NM_020987.5	NP_066267.2:p.(Asn3917Asp)	NC_000010.10:g.61828890T>C	(Likely) benign	1 lab	88dcde75da
13:24865020 SPATA13 C>T	13	24865020	24865020	C	T	SPATA13	c.3078C>T	NM_001166271.3	NP_001159743.1:p.(His1026=)	NC_000013.10:g.24865020C>T	VUS	1 lab	88dd4d4113
2:152350370 NEB T>TTTG	2	152350370	152350374	T	TTTG	NEB	c.24588_24590dup	NM_001164508.2	NP_001157980.2:p.(Tyr8196_Lys8197insAsn)	NC_000002.11:g.152350372_152350374dup	VUS	1 lab	88de1eb16d
6:43589361 GTPBP2 A>G	6	43589361	43589361	A	G	GTPBP2	c.1799T>C	NM_019096.5	NP_061969.3:p.(Met600Thr)	NC_000006.11:g.43589361A>G	(Likely) benign	1 lab	88de999084
1:17256850 CROCC C>T	1	17256850	17256850	C	T	CROCC	c.683+8C>T	NM_014675.5	NP_055490.4:p.?	NC_000001.10:g.17256850C>T	(Likely) benign	1 lab	88deb0bfe6
3:123440981 MYLK C>T	3	123440981	123440981	C	T	MYLK	c.1798G>A	NM_053025.4	NP_444253.3:p.(Val600Ile)	NC_000003.11:g.123440981C>T	(Likely) benign	1 lab	88df7ba61c
21:47417321 COL6A1 C>G	21	47417321	47417321	C	G	COL6A1	c.1399-14C>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47417321C>G	(Likely) benign	1 lab	88e092a89a
19:7122684 INSR T>C	19	7122684	7122684	T	C	INSR	c.3470A>G	NM_000208.4	NP_000199.2:p.(His1157Arg)	NC_000019.9:g.7122684T>C	(Likely) pathogenic	1 lab	88e0d9ef17
19:5131950 KDM4B A>G	19	5131950	5131950	A	G	KDM4B	c.1838A>G	NM_015015.3	NP_055830.1:p.(His613Arg)	NC_000019.9:g.5131950A>G	VUS	1 lab	88e1396bdd
10:88476161 LDB3 T>C	10	88476161	88476161	T	C	LDB3	c.1309T>C	NM_007078.3	NP_009009.1:p.(Tyr437His)	NC_000010.10:g.88476161T>C	(Likely) benign	1 lab	88e1c5197d
6:33740382 LEMD2 G>A	6	33740382	33740382	G	A	LEMD2	c.*23C>T	NM_181336.4	NP_851853.1:p.?	NC_000006.11:g.33740382G>A	(Likely) benign	1 lab	24ff6e35df
4:84375095 HELQ T>C	4	84375095	84375095	T	C	HELQ	c.301A>G	NM_133636.5	NP_598375.3:p.(Asn101Asp)	NC_000004.11:g.84375095T>C	VUS	1 lab	88e470836c
2:220404193 CHPF C>T	2	220404193	220404193	C	T	CHPF	c.2240G>A	NM_024536.6	NP_078812.3:p.(Arg747His)	NC_000002.11:g.220404193C>T	VUS	1 lab	88e48a7a40
13:53216673 HNRNPA1L2 C>T	13	53216673	53216673	C	T	HNRNPA1L2	c.46C>T	NM_001389320.1	NP_001376249.1:p.(Leu16Phe)	NC_000013.10:g.53216673C>T	VUS	1 lab	88e5b47ae9
9:139904691 ABCA2 C>T	9	139904691	139904691	C	T	ABCA2	c.6307G>A	NM_001606.5	NP_001597.2:p.(Gly2103Ser)	NC_000009.11:g.139904691C>T	VUS	1 lab	88e6fb6f58
17:47388782 ZNF652 G>A	17	47388782	47388782	G	A	ZNF652	c.1201C>T	NM_001145365.3	NP_001138837.1:p.(Arg401Cys)	NC_000017.10:g.47388782G>A	VUS	1 lab	88e7768a95
2:211452797 CPS1 G>A	2	211452797	211452797	G	A	CPS1	c.637G>A	NM_001875.5	NP_001866.2:p.(Gly213Ser)	NC_000002.11:g.211452797G>A	VUS	1 lab	88e7c41f4e
3:11059102 SLC6A1 A>G	3	11059102	11059102	A	G	SLC6A1	c.205A>G	NM_003042.4	NP_003033.3:p.(Arg69Gly)	NC_000003.11:g.11059102A>G	(Likely) pathogenic	1 lab	88e7e41528
12:49443694 KMT2D A>G	12	49443694	49443694	A	G	KMT2D	c.3677T>C	NM_003482.4	NP_003473.3:p.(Leu1226Pro)	NC_000012.11:g.49443694A>G	(Likely) benign	1 lab	88e85fac25
17:33903088 PEX12 A>G	17	33903088	33903088	A	G	PEX12	c.793T>C	NM_000286.3	NP_000277.1:p.(Tyr265His)	NC_000017.10:g.33903088A>G	VUS	1 lab	88e9458d6f
21:40765094 GET1 T>A	21	40765094	40765094	T	A	GET1	c.339T>A	NM_004627.6	NP_004618.2:p.(Ala113=)	NC_000021.8:g.40765094T>A	VUS	1 lab	88ea6af425
19:6477281 DENND1C G>T	19	6477281	6477281	G	T	DENND1C	c.461C>A	NM_024898.4	NP_079174.2:p.(Thr154Lys)	NC_000019.9:g.6477281G>T	(Likely) benign	1 lab	88eb3fdd79
1:3649632 TP73 G>A	1	3649632	3649632	G	A	TP73	c.1900G>A	NM_005427.4	NP_005418.1:p.(Glu634Lys)	NC_000001.10:g.3649632G>A	VUS	1 lab	88edcbfafa
X:15840910 ZRSR2 T>G	X	15840910	15840910	T	G	ZRSR2	c.994T>G	NM_005089.4	NP_005080.1:p.(Phe332Val)	NC_000023.10:g.15840910T>G	VUS	1 lab	88edf42d62
X:53223862 KDM5C C>T	X	53223862	53223862	C	T	KDM5C	c.3497G>A	NM_004187.5	NP_004178.2:p.(Arg1166His)	NC_000023.10:g.53223862C>T	(Likely) benign	1 lab	88ee66cc69
13:23928730 SACS C>T	13	23928730	23928730	C	T	SACS	c.2021G>A	NM_014363.6	NP_055178.3:p.(Gly674Asp)	NC_000013.10:g.23928730C>T	(Likely) benign	1 lab	88eeaa5a46
11:47297586 MADD C>T	11	47297586	47297586	C	T	MADD	c.796C>T	NM_001376571.1	NP_001363500.1:p.(Arg266Ter)	NC_000011.9:g.47297586C>T	VUS	1 lab	88ef5c1d2c
6:12125934 HIVEP1 C>G	6	12125934	12125934	C	G	HIVEP1	c.5906C>G	NM_002114.4	NP_002105.3:p.(Thr1969Arg)	NC_000006.11:g.12125934C>G	(Likely) benign	1 lab	88ef939f19
4:6303534 WFS1 C>T	4	6303534	6303534	C	T	WFS1	c.2012C>T	NM_006005.3	NP_005996.2:p.(Ala671Val)	NC_000004.11:g.6303534C>T	(Likely) benign	1 lab	88f054efa6
17:71193106 COG1 G>A	17	71193106	71193106	G	A	COG1	c.628G>A	NM_018714.3	NP_061184.1:p.(Glu210Lys)	NC_000017.10:g.71193106G>A	VUS	1 lab	88f0d2c296
12:7362797 PEX5 CTA>C	12	7362797	7362800	CTA	C	PEX5	c.1900_1901del	NM_001351132.2	NP_001338061.1:p.(Met634ValfsTer14)	NC_000012.11:g.7362799_7362800del	VUS	1 lab	88f15a2bf5
2:86074964 ST3GAL5 AAC>A	2	86074964	86074967	AAC	A	ST3GAL5	c.662+18_662+19del	NM_003896.4	NP_003887.3:p.?	NC_000002.11:g.86074966_86074967del	(Likely) benign	1 lab	2667aa4638
15:90210316 PLIN1 G>C	15	90210316	90210316	G	C	PLIN1	c.1060C>G	NM_002666.5	NP_002657.3:p.(Pro354Ala)	NC_000015.9:g.90210316G>C	VUS	1 lab	88f545b6b3
11:64410183 NRXN2 T>TGGCGGC	11	64410183	64410197	T	TGGCGGC	NRXN2	c.3403+5502_3403+5507dup	NM_015080.4	NP_055895.1:p.?	NC_000011.9:g.64410192_64410197dup	VUS	1 lab	88f63fb401
13:28494624 PDX1 C>A	13	28494624	28494624	C	A	PDX1	c.349C>A	NM_000209.4	NP_000200.1:p.(Leu117Met)	NC_000013.10:g.28494624C>A	(Likely) benign	1 lab	88f68dc045
10:81049579 ZMIZ1 A>G	10	81049579	81049579	A	G	ZMIZ1	c.473A>G	NM_020338.4	NP_065071.1:p.(Asn158Ser)	NC_000010.10:g.81049579A>G	VUS	1 lab	88f75791fe
5:32774832 NPR3 G>A	5	32774832	32774832	G	A	NPR3	c.1078G>A	NM_001204375.2	NP_001191304.1:p.(Gly360Arg)	NC_000005.9:g.32774832G>A	VUS	1 lab	88f859a6b2
10:112581403 RBM20 A>G	10	112581403	112581403	A	G	RBM20	c.3026A>G	NM_001134363.3	NP_001127835.2:p.(Lys1009Arg)	NC_000010.10:g.112581403A>G	VUS	1 lab	24ff7ad861
16:67645373 CTCF G>A	16	67645373	67645373	G	A	CTCF	c.638G>A	NM_006565.4	NP_006556.1:p.(Arg213His)	NC_000016.9:g.67645373G>A	VUS	1 lab	25005b4fb3
14:102368052 PPP2R5C G>C	14	102368052	102368052	G	C	PPP2R5C	c.1018-4G>C	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102368052G>C	(Likely) benign	1 lab	88fbda68f7
12:114793581 TBX5 C>T	12	114793581	114793581	C	T	TBX5	c.1313G>A	NM_181486.4	NP_852259.1:p.(Arg438Gln)	NC_000012.11:g.114793581C>T	(Likely) benign	1 lab	88fbf9b8d8
3:47164069 SETD2 A>G	3	47164069	47164069	A	G	SETD2	c.2057T>C	NM_014159.7	NP_054878.5:p.(Phe686Ser)	NC_000003.11:g.47164069A>G	VUS	1 lab	88fc370ade
6:1611980 FOXC1 C>T	6	1611980	1611980	C	T	FOXC1	c.1300C>T	NM_001453.3	NP_001444.2:p.(Pro434Ser)	NC_000006.11:g.1611980C>T	VUS	1 lab	88fd532498
19:34934813 UBA2 G>A	19	34934813	34934813	G	A	UBA2	c.646G>A	NM_005499.3	NP_005490.1:p.(Ala216Thr)	NC_000019.9:g.34934813G>A	(Likely) benign	1 lab	88fe9b8fd1
4:147204408 SLC10A7 C>T	4	147204408	147204408	C	T	SLC10A7	c.783G>A	NM_001029998.6	NP_001025169.1:p.(Ser261=)	NC_000004.11:g.147204408C>T	(Likely) benign	1 lab	8901c6dc58
19:18896794 COMP G>C	19	18896794	18896794	G	C	COMP	c.1470C>G	NM_000095.3	NP_000086.2:p.(Pro490=)	NC_000019.9:g.18896794G>C	(Likely) benign	1 lab	8903cc11af
X:38240603 OTC C>G	X	38240603	38240603	C	G	OTC	c.307C>G	NM_000531.6	NP_000522.3:p.(Leu103Val)	NC_000023.10:g.38240603C>G	VUS	1 lab	8904a586bf
17:61995248 GH1 G>C	17	61995248	61995248	G	C	GH1	c.328C>G	NM_000515.5	NP_000506.2:p.(Gln110Glu)	NC_000017.10:g.61995248G>C	VUS	1 lab	89b545da82
13:45150032 TSC22D1 G>A	13	45150032	45150032	G	A	TSC22D1	c.179C>T	NM_183422.4	NP_904358.2:p.(Pro60Leu)	NC_000013.10:g.45150032G>A	VUS	1 lab	89054013a0
8:144996556 PLEC G>A	8	144996556	144996556	G	A	PLEC	c.7433C>T	NM_201384.3	NP_958786.1:p.(Thr2478Met)	NC_000008.10:g.144996556G>A	(Likely) benign	1 lab	8905c61c8f
17:1783979 RPA1 G>A	17	1783979	1783979	G	A	RPA1	c.1235G>A	NM_002945.5	NP_002936.1:p.(Arg412His)	NC_000017.10:g.1783979G>A	VUS	1 lab	890665171e
19:39055731 RYR1 C>A	19	39055731	39055731	C	A	RYR1	c.12757C>A	NM_000540.3	NP_000531.2:p.(Pro4253Thr)	NC_000019.9:g.39055731C>A	VUS	1 lab	8906eae69d
X:114425942 RBMXL3 G>A	X	114425942	114425942	G	A	RBMXL3	c.1938G>A	NM_001145346.2	NP_001138818.1:p.(Ser646=)	NC_000023.10:g.114425942G>A	(Likely) benign	1 lab	8907a0a041
9:131715111 NUP188 C>T	9	131715111	131715111	C	T	NUP188	c.147C>T	NM_015354.3	NP_056169.1:p.(Tyr49=)	NC_000009.11:g.131715111C>T	VUS	1 lab	8907c22e28
3:57232884 HESX1 G>A	3	57232884	57232884	G	A	HESX1	c.254C>T	NM_003865.3	NP_003856.1:p.(Ser85Leu)	NC_000003.11:g.57232884G>A	(Likely) benign	1 lab	8907fcd364
2:44570930 PREPL G>T	2	44570930	44570930	G	T	PREPL	c.303C>A	NM_001171613.2	NP_001165084.1:p.(Ser101Arg)	NC_000002.11:g.44570930G>T	(Likely) benign	1 lab	890a74b7e1
1:1267605 TAS1R3 G>A	1	1267605	1267605	G	A	TAS1R3	c.694G>A	NM_152228.3	NP_689414.2:p.(Ala232Thr)	NC_000001.10:g.1267605G>A	VUS	1 lab	890ab0c455
10:72201282 NODAL A>G	10	72201282	72201282	A	G	NODAL	c.142T>C	NM_018055.5	NP_060525.3:p.(Tyr48His)	NC_000010.10:g.72201282A>G	VUS	1 lab	25045d2ac1
16:72832205 ZFHX3 T>C	16	72832205	72832205	T	C	ZFHX3	c.4376A>G	NM_006885.4	NP_008816.3:p.(Asp1459Gly)	NC_000016.9:g.72832205T>C	(Likely) benign	1 lab	890b91e207
15:42958014 STARD9 C>A	15	42958014	42958014	C	A	STARD9	c.1285C>A	NM_020759.3	NP_065810.2:p.(Leu429Met)	NC_000015.9:g.42958014C>A	VUS	1 lab	890bec20e4
1:181019250 MR1 C>A	1	181019250	181019250	C	A	MR1	c.432C>A	NM_001385161.1	NP_001372090.1:p.(Phe144Leu)	NC_000001.10:g.181019250C>A	(Likely) benign	1 lab	890ed9a5ee
13:32913080 BRCA2 A>T	13	32913080	32913080	A	T	BRCA2	c.4588A>T	NM_000059.4	NP_000050.3:p.(Lys1530Ter)	NC_000013.10:g.32913080A>T	(Likely) pathogenic	1 lab	890f021ea6
18:74580815 ZNF236 A>G	18	74580815	74580815	A	G	ZNF236	c.538A>G	NM_001306089.2	NP_001293018.1:p.(Ile180Val)	NC_000018.9:g.74580815A>G	(Likely) benign	1 lab	890ffdc073
16:89345845 ANKRD11 C>A	16	89345845	89345845	C	A	ANKRD11	c.7105G>T	NM_013275.6	NP_037407.4:p.(Ala2369Ser)	NC_000016.9:g.89345845C>A	(Likely) benign	1 lab	89109d0ded
15:63944673 HERC1 C>T	15	63944673	63944673	C	T	HERC1	c.10358G>A	NM_003922.4	NP_003913.3:p.(Arg3453His)	NC_000015.9:g.63944673C>T	VUS	1 lab	8913fb3c20
16:89349640 ANKRD11 C>CT	16	89349640	89349648	C	CT	ANKRD11	c.3309dup	NM_013275.6	NP_037407.4:p.(Asp1104ArgfsTer2)	NC_000016.9:g.89349648dup	(Likely) pathogenic	1 lab	89181cb04c
14:23884636 MYH7 T>G	14	23884636	23884636	T	G	MYH7	c.5237A>C	NM_000257.4	NP_000248.2:p.(Gln1746Pro)	NC_000014.8:g.23884636T>G	VUS	1 lab	89182ecaad
17:1554009 PRPF8 A>C	17	1554009	1554009	A	C	PRPF8	c.*87T>G	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1554009A>C	VUS	1 lab	8918d20986
11:64853934 ZFPL1 C>T	11	64853934	64853934	C	T	ZFPL1	c.262C>T	NM_006782.4	NP_006773.2:p.(Arg88Ter)	NC_000011.9:g.64853934C>T	VUS	1 lab	89192c24a7
7:73969797 GTF2IRD1 G>A	7	73969797	73969797	G	A	GTF2IRD1	c.1996G>A	NM_005685.4	NP_005676.3:p.(Glu666Lys)	NC_000007.13:g.73969797G>A	(Likely) benign	1 lab	891a7b99a0
8:37611414 ERLIN2 CT>C	8	37611414	37611427	CT	C	ERLIN2	c.820-6del	NM_007175.8	NP_009106.1:p.?	NC_000008.10:g.37611427del	(Likely) benign	1 lab	891abc3b74
14:23886447 MYH7 G>C	14	23886447	23886447	G	C	MYH7	c.4434C>G	NM_000257.2	NP_000248.2:p.(Ser1478Arg)	NC_000014.8:g.23886447G>C	VUS	1 lab	266e2cbb88
11:118363938 KMT2A C>T	11	118363938	118363938	C	T	KMT2A	c.5171C>T	NM_001197104.2	NP_001184033.1:p.(Thr1724Ile)	NC_000011.9:g.118363938C>T	(Likely) benign	1 lab	891feadbec
2:130949588 TUBA3E C>T	2	130949588	130949588	C	T	TUBA3E	c.1169G>A	NM_207312.3	NP_997195.2:p.(Arg390His)	NC_000002.11:g.130949588C>T	VUS	1 lab	89228a5a71
1:202569555 SYT2 C>T	1	202569555	202569555	C	T	SYT2	c.849G>A	NM_177402.5	NP_796376.2:p.(Thr283=)	NC_000001.10:g.202569555C>T	(Likely) benign	1 lab	89228cd305
9:32984782 APTX G>A	9	32984782	32984782	G	A	APTX	c.617C>T	NM_001195248.2	NP_001182177.2:p.(Pro206Leu)	NC_000009.11:g.32984782G>A	VUS	1 lab	89228db37f
15:51692419 GLDN C>T	15	51692419	51692419	C	T	GLDN	c.848C>T	NM_181789.4	NP_861454.2:p.(Thr283Ile)	NC_000015.9:g.51692419C>T	(Likely) benign	1 lab	8923a02efa
4:1374010 UVSSA C>T	4	1374010	1374010	C	T	UVSSA	c.1744C>T	NM_020894.4	NP_065945.2:p.(Arg582Trp)	NC_000004.11:g.1374010C>T	VUS	1 lab	89251094a6
2:152534137 NEB C>A	2	152534137	152534137	C	A	NEB	c.3716G>T	NM_001164508.2	NP_001157980.2:p.(Ser1239Ile)	NC_000002.11:g.152534137C>A	VUS	1 lab	892526a79a
11:31823415 PAX6 T>C	11	31823415	31823415	T	C	PAX6	c.183+4A>G	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31823415T>C	VUS	1 lab	8925bad3d5
1:46078870 NASP G>A	1	46078870	46078870	G	A	NASP	c.1456G>A	NM_002482.4	NP_002473.2:p.(Glu486Lys)	NC_000001.10:g.46078870G>A	VUS	1 lab	8925bb64a8
7:56146191 SUMF2 G>A	7	56146191	56146191	G	A	SUMF2	c.811G>A	NM_015411.4	NP_056226.3:p.(Val271Ile)	NC_000007.13:g.56146191G>A	(Likely) benign	1 lab	89276c6069
6:129712669 LAMA2 C>G	6	129712669	129712669	C	G	LAMA2	c.5105C>G	NM_000426.4	NP_000417.3:p.(Thr1702Ser)	NC_000006.11:g.129712669C>G	(Likely) benign	1 lab	8927c36e2c
22:42608005 TCF20 C>T	22	42608005	42608005	C	T	TCF20	c.3307G>A	NM_001378418.1	NP_001365347.1:p.(Gly1103Ser)	NC_000022.10:g.42608005C>T	(Likely) benign	1 lab	8927e22c4f
12:116445442 MED13L C>A	12	116445442	116445442	C	A	MED13L	c.2013-1G>T	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116445442C>A	(Likely) benign	1 lab	89298e8839
19:14040891 CC2D1A A>C	19	14040891	14040891	A	C	CC2D1A	c.2711A>C	NM_017721.5	NP_060191.3:p.(Glu904Ala)	NC_000019.9:g.14040891A>C	VUS	1 lab	8929fbf46a
15:89876384 POLGARF A>C	15	89876384	89876384	A	C	POLGARF	c.657T>G	NM_001430120.1	NP_001417049.1:p.(Gly219=)	NC_000015.9:g.89876384A>C	VUS	1 lab	892aa6b66f
13:49050880 RB1 G>GCGACC	13	49050880	49050885	G	GCGACC	RB1	c.2565_2569dup	NM_000321.3	NP_000312.2:p.(Arg857ProfsTer18)	NC_000013.10:g.49050881_49050885dup	(Likely) pathogenic	1 lab	892acefd08
15:42185258 SPTBN5 G>A	15	42185258	42185258	G	A	SPTBN5	c.218C>T	NM_016642.4	NP_057726.4:p.(Ala73Val)	NC_000015.9:g.42185258G>A	VUS	1 lab	892bbd752e
17:58740891 PPM1D G>A	17	58740891	58740891	G	A	PPM1D	c.1796G>A	NM_003620.4	NP_003611.1:p.(Arg599Lys)	NC_000017.10:g.58740891G>A	VUS	1 lab	25074ddc22
5:149754700 TCOF1 G>A	5	149754700	149754700	G	A	TCOF1	c.1462G>A	NM_001371623.1	NP_001358552.1:p.(Ala488Thr)	NC_000005.9:g.149754700G>A	(Likely) benign	1 lab	892e3122de
4:5687147 EVC2 C>A	4	5687147	5687147	C	A	EVC2	c.766G>T	NM_147127.5	NP_667338.3:p.(Gly256Trp)	NC_000004.11:g.5687147C>A	VUS	1 lab	892e329a80
6:43014755 CUL7 C>T	6	43014755	43014755	C	T	CUL7	c.2260G>A	NM_014780.5	NP_055595.2:p.(Ala754Thr)	NC_000006.11:g.43014755C>T	(Likely) benign	1 lab	892e5a05dc
X:41089830 USP9X C>T	X	41089830	41089830	C	T	USP9X	c.7508C>T	NM_001039591.3	NP_001034680.2:p.(Pro2503Leu)	NC_000023.10:g.41089830C>T	VUS	1 lab	892e67afca
4:121958330 NDNF G>A	4	121958330	121958330	G	A	NDNF	c.796C>T	NM_024574.4	NP_078850.3:p.(Arg266Cys)	NC_000004.11:g.121958330G>A	(Likely) benign	1 lab	892e8db572
14:92470023 TRIP11 T>C	14	92470023	92470023	T	C	TRIP11	c.4297A>G	NM_004239.4	NP_004230.2:p.(Lys1433Glu)	NC_000014.8:g.92470023T>C	VUS	1 lab	892ea1d6dd
X:25031181 ARX C>T	X	25031181	25031181	C	T	ARX	c.931G>A	NM_139058.3	NP_620689.1:p.(Val311Met)	NC_000023.10:g.25031181C>T	(Likely) benign	1 lab	892f00b2c0
1:67519518 SLC35D1 T>C	1	67519518	67519518	T	C	SLC35D1	c.179A>G	NM_015139.3	NP_055954.1:p.(Asn60Ser)	NC_000001.10:g.67519518T>C	VUS	1 lab	892f1eac3e
12:45761564 ANO6 C>T	12	45761564	45761564	C	T	ANO6	c.1092C>T	NM_001025356.3	NP_001020527.2:p.(Cys364=)	NC_000012.11:g.45761564C>T	VUS	1 lab	8931029235
7:42064898 GLI3 C>T	7	42064898	42064898	C	T	GLI3	c.1321G>A	NM_000168.6	NP_000159.3:p.(Glu441Lys)	NC_000007.13:g.42064898C>T	(Likely) benign	1 lab	8933ac51ca
2:120005750 STEAP3 C>T	2	120005750	120005750	C	T	STEAP3	c.1018C>T	NM_182915.3	NP_878919.2:p.(Arg340Cys)	NC_000002.11:g.120005750C>T	VUS	1 lab	8933f6f63d
8:145638181 SLC39A4 C>T	8	145638181	145638181	C	T	SLC39A4	c.1777G>A	NM_130849.4	NP_570901.3:p.(Ala593Thr)	NC_000008.10:g.145638181C>T	VUS	1 lab	8933f9f0ad
22:37492731 TMPRSS6 G>A	22	37492731	37492731	G	A	TMPRSS6	c.361C>T	NM_001374504.1	NP_001361433.1:p.(Arg121Cys)	NC_000022.10:g.37492731G>A	(Likely) benign	1 lab	89342e7a69
8:103291274 UBR5 T>C	8	103291274	103291274	T	C	UBR5	c.6164A>G	NM_015902.6	NP_056986.2:p.(His2055Arg)	NC_000008.10:g.103291274T>C	VUS	1 lab	8935fbcaf6
9:131396538 DYNC2I2 G>A	9	131396538	131396538	G	A	DYNC2I2	c.1339C>T	NM_052844.4	NP_443076.2:p.(Arg447Trp)	NC_000009.11:g.131396538G>A	VUS	1 lab	8938332166
16:17228597 XYLT1 A>G	16	17228597	17228597	A	G	XYLT1	c.1765-5T>C	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17228597A>G	VUS	1 lab	893a5d24b3
4:110772796 LRIT3 T>C	4	110772796	110772796	T	C	LRIT3	c.253T>C	NM_198506.5	NP_940908.3:p.(Tyr85His)	NC_000004.11:g.110772796T>C	(Likely) benign	1 lab	893bdac7ec
10:34420423 PARD3 G>A	10	34420423	34420423	G	A	PARD3	c.3508C>T	NM_001184785.2	NP_001171714.1:p.(Arg1170Cys)	NC_000010.10:g.34420423G>A	VUS	1 lab	893c1a86eb
5:256476 SDHA G>A	5	256476	256476	G	A	SDHA	c.1936G>A	NM_004168.4	NP_004159.2:p.(Asp646Asn)	NC_000005.9:g.256476G>A	VUS	1 lab	893ca92baf
20:42815008 JPH2 C>A	20	42815008	42815008	C	A	JPH2	c.338G>T	NM_020433.5	NP_065166.2:p.(Gly113Val)	NC_000020.10:g.42815008C>A	VUS	1 lab	893cd393fb
9:124088790 GSN A>G	9	124088790	124088790	A	G	GSN	c.1417A>G	NM_198252.3	NP_937895.1:p.(Ser473Gly)	NC_000009.11:g.124088790A>G	VUS	1 lab	893fb8c480
4:166795123 TLL1 G>C	4	166795123	166795123	G	C	TLL1	c.67G>C	NM_012464.5	NP_036596.3:p.(Gly23Arg)	NC_000004.11:g.166795123G>C	(Likely) benign	1 lab	89443cf9d4
9:136220621 SURF1 G>C	9	136220621	136220621	G	C	SURF1	c.498C>G	NM_003172.4	NP_003163.1:p.(Phe166Leu)	NC_000009.11:g.136220621G>C	VUS	1 lab	8944444f4a
15:90208997 PLIN1 G>A	15	90208997	90208997	G	A	PLIN1	c.1386C>T	NM_002666.5	NP_002657.3:p.(Pro462=)	NC_000015.9:g.90208997G>A	(Likely) benign	1 lab	8946088063
10:90708671 ACTA2 T>C	10	90708671	90708671	T	C	ACTA2	c.17A>G	NM_001613.4	NP_001604.1:p.(Asp6Gly)	NC_000010.10:g.90708671T>C	VUS	1 lab	8947767987
13:111114476 COL4A2 A>G	13	111114476	111114476	A	G	COL4A2	c.1612A>G	NM_001846.4	NP_001837.2:p.(Ile538Val)	NC_000013.10:g.111114476A>G	VUS	1 lab	894854476a
15:89383226 ACAN G>A	15	89383226	89383226	G	A	ACAN	c.455-17G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89383226G>A	VUS	1 lab	89486ca9a7
13:32869377 FRY A>T	13	32869377	32869377	A	T	FRY	c.8822A>T	NM_023037.3	NP_075463.2:p.(Asp2941Val)	NC_000013.10:g.32869377A>T	VUS	1 lab	894c5611a6
7:31018817 GHRHR G>A	7	31018817	31018817	G	A	GHRHR	c.1230G>A	NM_000823.4	NP_000814.2:p.(Thr410=)	NC_000007.13:g.31018817G>A	(Likely) benign	1 lab	894cc3bbd8
1:38218738 EPHA10 G>C	1	38218738	38218738	G	C	EPHA10	c.1167C>G	NM_001099439.2	NP_001092909.1:p.(Cys389Trp)	NC_000001.10:g.38218738G>C	VUS	1 lab	894ec35e0f
3:44285400 TOPAZ1 C>T	3	44285400	44285400	C	T	TOPAZ1	c.1402C>T	NM_001145030.2	NP_001138502.1:p.(Arg468Trp)	NC_000003.11:g.44285400C>T	VUS	1 lab	8951c2d9d9
1:110231908 GSTM1 CCA>C	1	110231908	110231910	CCA	C	GSTM1	c.322_323del	NM_000561.4	NP_000552.2:p.(His108TyrfsTer13)	NC_000001.10:g.110231909_110231910del	VUS	1 lab	89540c74ab
6:160328742 MAS1 A>G	6	160328742	160328742	A	G	MAS1	c.755A>G	NM_002377.4	NP_002368.1:p.(Tyr252Cys)	NC_000006.11:g.160328742A>G	(Likely) benign	1 lab	8955a79e62
11:124738839 ROBO3 G>A	11	124738839	124738839	G	A	ROBO3	c.302G>A	NM_022370.4	NP_071765.2:p.(Gly101Glu)	NC_000011.9:g.124738839G>A	VUS	1 lab	8956e6888b
15:89385083 ACAN G>A	15	89385083	89385083	G	A	ACAN	c.742G>A	NM_001369268.1	NP_001356197.1:p.(Ala248Thr)	NC_000015.9:g.89385083G>A	(Likely) pathogenic	1 lab	8956ee4582
6:39881535 MOCS1 C>T	6	39881535	39881535	C	T	MOCS1	c.628G>A	NM_001358530.2	NP_001345459.1:p.(Gly210Ser)	NC_000006.11:g.39881535C>T	VUS	1 lab	8957dd2836
X:149826406 MTM1 C>G	X	149826406	149826406	C	G	MTM1	c.1166C>G	NM_000252.3	NP_000243.1:p.(Ala389Gly)	NC_000023.10:g.149826406C>G	VUS	1 lab	89584792bb
6:24495310 ALDH5A1 G>C	6	24495310	24495310	G	C	ALDH5A1	c.86G>C	NM_001080.3	NP_001071.1:p.(Gly29Ala)	NC_000006.11:g.24495310G>C	(Likely) benign	1 lab	8958bc2058
19:47884092 DHX34 G>A	19	47884092	47884092	G	A	DHX34	c.3002G>A	NM_014681.6	NP_055496.2:p.(Arg1001Gln)	NC_000019.9:g.47884092G>A	VUS	1 lab	895919963c
2:179632602 TTN T>A	2	179632602	179632602	T	A	TTN	c.9355A>T	NM_001267550.2	NP_001254479.2:p.(Thr3119Ser)	NC_000002.11:g.179632602T>A	VUS	1 lab	895966fd77
17:47753381 SPOP CAA>C	17	47753381	47753391	CAA	C	SPOP	c.-67+1912_-67+1913del	NM_001007228.2	NP_001007229.1:p.?	NC_000017.10:g.47753390_47753391del	(Likely) benign	1 lab	895a28c67d
4:100571201 C4orf54 T>G	4	100571201	100571201	T	G	C4orf54	c.4605A>C	NM_001354435.2	NP_001341364.1:p.(Lys1535Asn)	NC_000004.11:g.100571201T>G	VUS	1 lab	895b8d9f8d
2:166245494 SCN2A T>G	2	166245494	166245494	T	G	SCN2A	c.5178T>G	NM_001040142.2	NP_001035232.1:p.(Ser1726Arg)	NC_000002.11:g.166245494T>G	VUS	1 lab	895b991c40
2:220088637 ATG9A C>T	2	220088637	220088637	C	T	ATG9A	c.1373G>A	NM_001077198.3	NP_001070666.1:p.(Arg458His)	NC_000002.11:g.220088637C>T	VUS	1 lab	895bf0d7f8
X:15349898 PIGA TG>T	X	15349898	15349900	TG	T	PIGA	c.154del	NM_002641.4	NP_002632.1:p.(His52ThrfsTer9)	NC_000023.10:g.15349900del	(Likely) pathogenic	1 lab	895c9811ea
1:86591594 COL24A1 A>G	1	86591594	86591594	A	G	COL24A1	c.425T>C	NM_152890.7	NP_690850.2:p.(Leu142Ser)	NC_000001.10:g.86591594A>G	VUS	1 lab	895e151072
14:32560348 ARHGAP5 G>T	14	32560348	32560348	G	T	ARHGAP5	c.473G>T	NM_001030055.2	NP_001025226.1:p.(Gly158Val)	NC_000014.8:g.32560348G>T	VUS	1 lab	895e32d595
1:169510534 F5 G>T	1	169510534	169510534	G	T	F5	c.3794C>A	NM_000130.5	NP_000121.2:p.(Thr1265Lys)	NC_000001.10:g.169510534G>T	(Likely) benign	1 lab	896061e79f
2:86292530 POLR1A G>T	2	86292530	86292530	G	T	POLR1A	c.1925C>A	NM_015425.6	NP_056240.2:p.(Thr642Asn)	NC_000002.11:g.86292530G>T	VUS	1 lab	89608a80b6
1:22179244 HSPG2 C>T	1	22179244	22179244	C	T	HSPG2	c.6673G>A	NM_005529.7	NP_005520.4:p.(Gly2225Ser)	NC_000001.10:g.22179244C>T	(Likely) benign	1 lab	89610089ba
16:72048543 DHODH C>T	16	72048543	72048543	C	T	DHODH	c.406C>T	NM_001361.5	NP_001352.2:p.(Leu136Phe)	NC_000016.9:g.72048543C>T	VUS	1 lab	8962b039b0
5:90261226 ADGRV1 T>C	5	90261226	90261226	T	C	ADGRV1	c.17857-6T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90261226T>C	(Likely) benign	1 lab	266ebb6d72
3:136170978 STAG1 C>G	3	136170978	136170978	C	G	STAG1	c.1325G>C	NM_005862.3	NP_005853.2:p.(Arg442Thr)	NC_000003.11:g.136170978C>G	(Likely) benign	1 lab	896397249c
2:228211947 MFF C>T	2	228211947	228211947	C	T	MFF	c.446C>T	NM_001277062.2	NP_001263991.1:p.(Thr149Ile)	NC_000002.11:g.228211947C>T	VUS	1 lab	8964ab2cca
16:76350368 CNTNAP4 C>T	16	76350368	76350368	C	T	CNTNAP4	c.144C>T	NM_033401.5	NP_207837.2:p.(Ser48=)	NC_000016.9:g.76350368C>T	(Likely) benign	1 lab	8964e7d789
12:113596919 CFAP73 TG>T	12	113596919	113596922	TG	T	CFAP73	c.*428del	NM_001144872.3	NP_001138344.1:p.?	NC_000012.11:g.113596922del	(Likely) benign	1 lab	8968d9f469
19:13391189 CACNA1A A>G	19	13391189	13391189	A	G	CACNA1A	c.3822+2892T>C	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13391189A>G	(Likely) benign	1 lab	896912278f
1:47725980 STIL G>A	1	47725980	47725980	G	A	STIL	c.3061C>T	NM_001048166.1	NP_001041631.1:p.(His1021Tyr)	NC_000001.10:g.47725980G>A	VUS	1 lab	8969afbb59
3:53845152 CACNA1D G>A	3	53845152	53845152	G	A	CACNA1D	c.6205G>A	NM_001128840.3	NP_001122312.1:p.(Glu2069Lys)	NC_000003.11:g.53845152G>A	(Likely) benign	1 lab	896a6e8712
2:97784135 ANKRD36 A>G	2	97784135	97784135	A	G	ANKRD36	c.367A>G	NM_001354587.1	NP_001341516.1:p.(Asn123Asp)	NC_000002.11:g.97784135A>G	(Likely) benign	1 lab	896a8a7f1b
5:138730647 PROB1 C>T	5	138730647	138730647	C	T	PROB1	c.124G>A	NM_001161546.2	NP_001155018.1:p.(Glu42Lys)	NC_000005.9:g.138730647C>T	(Likely) benign	1 lab	896b5579a8
1:201009027 CACNA1S C>T	1	201009027	201009027	C	T	CACNA1S	c.5554G>A	NM_000069.3	NP_000060.2:p.(Gly1852Arg)	NC_000001.10:g.201009027C>T	(Likely) benign	1 lab	896b98fd24
17:41246439 BRCA1 ACAT>A	17	41246439	41246443	ACAT	A	BRCA1	c.1106_1108del	NM_007294.4	NP_009225.1:p.(Asp369del)	NC_000017.10:g.41246441_41246443del	VUS	1 lab	896c6b6103
7:44736591 OGDH C>T	7	44736591	44736591	C	T	OGDH	c.1979C>T	NM_002541.4	NP_002532.2:p.(Ala660Val)	NC_000007.13:g.44736591C>T	VUS	1 lab	89bcaa5d96
11:2154333 IGF2 C>T	11	2154333	2154333	C	T	IGF2	c.427G>A	NM_000612.6	NP_000603.1:p.(Ala143Thr)	NC_000011.9:g.2154333C>T	(Likely) benign	1 lab	896c77d05b
17:48433306 XYLT2 C>T	17	48433306	48433306	C	T	XYLT2	c.1253C>T	NM_022167.4	NP_071450.2:p.(Pro418Leu)	NC_000017.10:g.48433306C>T	(Likely) benign	1 lab	896d0ecb59
17:8397208 MYH10 G>GT	17	8397208	8397218	G	GT	MYH10	c.4057-6dup	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8397218dup	(Likely) benign	1 lab	896d77bbc0
6:32630230 HLA-DQB1 T>C	6	32630230	32630230	T	C	HLA-DQB1	c.380-205A>G	NM_002123.5	NP_002114.3:p.?	NC_000006.11:g.32630230T>C	(Likely) benign	1 lab	896de8a16e
10:47682783 ANTXRL C>T	10	47682783	47682783	C	T	ANTXRL	c.1211C>T	NM_001278688.3	NP_001265617.1:p.(Pro404Leu)	NC_000010.10:g.47682783C>T	(Likely) benign	1 lab	896e1b13cb
14:64408661 SYNE2 C>G	14	64408661	64408661	C	G	SYNE2	c.296C>G	NM_182914.3	NP_878918.2:p.(Thr99Arg)	NC_000014.8:g.64408661C>G	(Likely) benign	1 lab	896e87c394
14:23313880 MMP14 G>A	14	23313880	23313880	G	A	MMP14	c.1192G>A	NM_004995.4	NP_004986.1:p.(Gly398Ser)	NC_000014.8:g.23313880G>A	VUS	1 lab	8a092834c4
11:57367429 SERPING1 G>A	11	57367429	57367429	G	A	SERPING1	c.129G>A	NM_000062.3	NP_000053.2:p.(Gly43=)	NC_000011.9:g.57367429G>A	(Likely) benign	1 lab	2509ee439d
1:36788154 EVA1B CTCGTCG>C	1	36788154	36788165	CTCGTCG	C	EVA1B	c.234_239del	NM_001304762.2	NP_001291691.1:p.(Asp78_Asp79del)	NC_000001.10:g.36788160_36788165del	VUS	1 lab	896f29b0c6
1:236720535 HEATR1 G>A	1	236720535	236720535	G	A	HEATR1	c.5315C>T	NM_018072.6	NP_060542.4:p.(Pro1772Leu)	NC_000001.10:g.236720535G>A	(Likely) benign	1 lab	896fc3cebf
7:100417799 EPHB4 G>A	7	100417799	100417799	G	A	EPHB4	c.928C>T	NM_004444.5	NP_004435.3:p.(Arg310Trp)	NC_000007.13:g.100417799G>A	VUS	1 lab	8971030d1a
8:13259119 DLC1 C>T	8	13259119	13259119	C	T	DLC1	c.1033G>A	NM_182643.3	NP_872584.2:p.(Glu345Lys)	NC_000008.10:g.13259119C>T	(Likely) benign	1 lab	89715d12e7
2:210685285 UNC80 G>A	2	210685285	210685285	G	A	UNC80	c.2213G>A	NM_001371986.1	NP_001358915.1:p.(Gly738Glu)	NC_000002.11:g.210685285G>A	VUS	1 lab	8971bef2ba
X:152845512 ATP2B3 A>G	X	152845512	152845512	A	G	ATP2B3	c.3419A>G	NM_001001344.3	NP_001001344.1:p.(Asn1140Ser)	NC_000023.10:g.152845512A>G	(Likely) benign	1 lab	897402e9bd
6:80910680 BCKDHB A>T	6	80910680	80910680	A	T	BCKDHB	c.772A>T	NM_183050.4	NP_898871.1:p.(Ile258Phe)	NC_000006.11:g.80910680A>T	VUS	1 lab	89745c9970
2:238249654 COL6A3 G>C	2	238249654	238249654	G	C	COL6A3	c.7905C>G	NM_004369.4	NP_004360.2:p.(Phe2635Leu)	NC_000002.11:g.238249654G>C	VUS	1 lab	8974f7dd77
7:70228096 AUTS2 C>T	7	70228096	70228096	C	T	AUTS2	c.983C>T	NM_015570.4	NP_056385.1:p.(Thr328Ile)	NC_000007.13:g.70228096C>T	VUS	1 lab	89758705c6
17:72954558 HID1 A>T	17	72954558	72954558	A	T	HID1	c.1256T>A	NM_030630.3	NP_085133.1:p.(Met419Lys)	NC_000017.10:g.72954558A>T	VUS	1 lab	8975b60c0e
15:72637850 HEXA T>G	15	72637850	72637850	T	G	HEXA	c.1463A>C	NM_000520.6	NP_000511.2:p.(Lys488Thr)	NC_000015.9:g.72637850T>G	VUS	1 lab	89777ca8a8
12:49425672 KMT2D G>T	12	49425672	49425672	G	T	KMT2D	c.12816C>A	NM_003482.4	NP_003473.3:p.(Gly4272=)	NC_000012.11:g.49425672G>T	(Likely) benign	1 lab	8978a73132
X:18969294 PHKA2 C>T	X	18969294	18969294	C	T	PHKA2	c.382G>A	NM_000292.3	NP_000283.1:p.(Asp128Asn)	NC_000023.10:g.18969294C>T	VUS	1 lab	8979514b21
19:42865072 MEGF8 C>T	19	42865072	42865072	C	T	MEGF8	c.5634C>T	NM_001271938.2	NP_001258867.1:p.(Arg1878=)	NC_000019.9:g.42865072C>T	(Likely) benign	1 lab	897978e959
1:158636276 SPTA1 G>T	1	158636276	158636276	G	T	SPTA1	c.2050C>A	NM_003126.4	NP_003117.2:p.(His684Asn)	NC_000001.10:g.158636276G>T	VUS	1 lab	8979efd2d0
19:41892590 EXOSC5 TG>T	19	41892590	41892591	TG	T	EXOSC5	c.655del	NM_020158.4	NP_064543.3:p.(His219ThrfsTer59)	NC_000019.9:g.41892591del	(Likely) pathogenic	1 lab	897b511221
2:36668499 CRIM1 G>C	2	36668499	36668499	G	C	CRIM1	c.604G>C	NM_016441.3	NP_057525.1:p.(Glu202Gln)	NC_000002.11:g.36668499G>C	VUS	1 lab	897c1b75d9
16:89761704 CDK10 G>A	16	89761704	89761704	G	A	CDK10	c.936G>A	NM_052988.5	NP_443714.3:p.(Ala312=)	NC_000016.9:g.89761704G>A	(Likely) benign	1 lab	897ed3a285
15:34102705 RYR3 A>G	15	34102705	34102705	A	G	RYR3	c.10052A>G	NM_001036.6	NP_001027.3:p.(Lys3351Arg)	NC_000015.9:g.34102705A>G	(Likely) benign	1 lab	89806388e2
11:94278504 FUT4 A>C	11	94278504	94278504	A	C	FUT4	c.1205A>C	NM_002033.4	NP_002024.1:p.(His402Pro)	NC_000011.9:g.94278504A>C	VUS	1 lab	898281e731
7:151874452 KMT2C C>T	7	151874452	151874452	C	T	KMT2C	c.8086G>A	NM_170606.3	NP_733751.2:p.(Val2696Met)	NC_000007.13:g.151874452C>T	VUS	1 lab	8982abfcd9
X:140994530 MAGEC1 T>G	X	140994530	140994530	T	G	MAGEC1	c.1340T>G	NM_005462.5	NP_005453.2:p.(Val447Gly)	NC_000023.10:g.140994530T>G	(Likely) benign	1 lab	8982c17c09
7:8267265 ICA1 C>A	7	8267265	8267265	C	A	ICA1	c.256+966G>T	NM_001136020.3	NP_001129492.1:p.?	NC_000007.13:g.8267265C>A	(Likely) benign	1 lab	89841e5561
7:31003710 GHRHR C>T	7	31003710	31003710	C	T	GHRHR	c.27C>T	NM_000823.4	NP_000814.2:p.(His9=)	NC_000007.13:g.31003710C>T	(Likely) benign	1 lab	8984cc26a7
2:112686988 MERTK G>A	2	112686988	112686988	G	A	MERTK	c.353G>A	NM_006343.3	NP_006334.2:p.(Ser118Asn)	NC_000002.11:g.112686988G>A	(Likely) benign	1 lab	250b3a6165
13:23908870 SACS TG>T	13	23908870	23908871	TG	T	SACS	c.9144del	NM_014363.6	NP_055178.3:p.(Thr3050GlnfsTer2)	NC_000013.10:g.23908871del	(Likely) pathogenic	1 lab	8986e77651
19:4099334 MAP2K2 C>A	19	4099334	4099334	C	A	MAP2K2	c.784G>T	NM_030662.4	NP_109587.1:p.(Val262Phe)	NC_000019.9:g.4099334C>A	VUS	1 lab	8987ec9185
4:73942673 ANKRD17 T>C	4	73942673	73942673	T	C	ANKRD17	c.7736A>G	NM_032217.5	NP_115593.3:p.(Asn2579Ser)	NC_000004.11:g.73942673T>C	VUS	1 lab	898814e69d
6:41552520 FOXP4 T>C	6	41552520	41552520	T	C	FOXP4	c.314T>C	NM_001012426.2	NP_001012426.1:p.(Val105Ala)	NC_000006.11:g.41552520T>C	VUS	1 lab	89884857be
3:47450515 PTPN23 G>A	3	47450515	47450515	G	A	PTPN23	c.1580G>A	NM_015466.4	NP_056281.1:p.(Arg527His)	NC_000003.11:g.47450515G>A	VUS	1 lab	898918bba9
X:118370481 PGRMC1 C>A	X	118370481	118370481	C	A	PGRMC1	c.155C>A	NM_006667.5	NP_006658.1:p.(Ala52Glu)	NC_000023.10:g.118370481C>A	VUS	1 lab	898ac7a88b
3:14763260 C3orf20 A>G	3	14763260	14763260	A	G	C3orf20	c.1535A>G	NM_032137.5	NP_115513.4:p.(Asn512Ser)	NC_000003.11:g.14763260A>G	VUS	1 lab	898acc5e1e
13:32913723 BRCA2 G>T	13	32913723	32913723	G	T	BRCA2	c.5231G>T	NM_000059.4	NP_000050.3:p.(Ser1744Ile)	NC_000013.10:g.32913723G>T	VUS	1 lab	898ad8494d
9:80919829 PSAT1 G>A	9	80919829	80919829	G	A	PSAT1	c.370G>A	NM_058179.4	NP_478059.1:p.(Val124Ile)	NC_000009.11:g.80919829G>A	VUS	1 lab	898b0fa5cf
2:179598564 TTN G>A	2	179598564	179598564	G	A	TTN	c.15552C>T	NM_001267550.2	NP_001254479.2:p.(Thr5184=)	NC_000002.11:g.179598564G>A	(Likely) benign	1 lab	250b3d276d
6:45405790 RUNX2 T>A	6	45405790	45405790	T	A	RUNX2	c.685+2T>A	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45405790T>A	(Likely) pathogenic	1 lab	898d9c6cf1
8:144995107 PLEC G>A	8	144995107	144995107	G	A	PLEC	c.8882C>T	NM_201384.3	NP_958786.1:p.(Thr2961Met)	NC_000008.10:g.144995107G>A	VUS	1 lab	898ead25db
4:140393832 RAB33B A>G	4	140393832	140393832	A	G	RAB33B	c.250-8A>G	NM_031296.3	NP_112586.1:p.?	NC_000004.11:g.140393832A>G	(Likely) benign	1 lab	898ec3ca5a
9:93983123 AUH C>T	9	93983123	93983123	C	T	AUH	c.807G>A	NM_001698.3	NP_001689.1:p.(Arg269=)	NC_000009.11:g.93983123C>T	(Likely) benign	1 lab	89906bdc54
16:90001272 TUBB3 C>T	16	90001272	90001272	C	T	TUBB3	c.413C>T	NM_006086.4	NP_006077.2:p.(Ser138Leu)	NC_000016.9:g.90001272C>T	(Likely) pathogenic	1 lab	8990acf04f
X:16870242 RBBP7 G>T	X	16870242	16870242	G	T	RBBP7	c.967C>A	NM_002893.4	NP_002884.1:p.(His323Asn)	NC_000023.10:g.16870242G>T	VUS	1 lab	8990d6c4c5
8:19263295 CSGALNACT1 GT>G	8	19263295	19263302	GT	G	CSGALNACT1	c.1594del	NM_001354483.2	NP_001341412.1:p.(Thr532HisfsTer43)	NC_000008.10:g.19263302del	VUS	1 lab	8992335b5c
15:29415639 ENTREP2 G>A	15	29415639	29415639	G	A	ENTREP2	c.1523C>T	NM_015307.2	NP_056122.1:p.(Ala508Val)	NC_000015.9:g.29415639G>A	VUS	1 lab	8993f861d9
11:124135743 OR8G5 G>C	11	124135743	124135743	G	C	OR8G5	c.916G>C	NM_001005198.2	NP_001005198.2:p.(Gly306Arg)	NC_000011.9:g.124135743G>C	(Likely) benign	1 lab	89ac0412c7
6:33134569 COL11A2 C>T	6	33134569	33134569	C	T	COL11A2	c.4266G>A	NM_080680.3	NP_542411.2:p.(Pro1422=)	NC_000006.11:g.33134569C>T	VUS	1 lab	89978717d3
11:76637687 ACER3 A>G	11	76637687	76637687	A	G	ACER3	c.190A>G	NM_018367.7	NP_060837.3:p.(Ile64Val)	NC_000011.9:g.76637687A>G	VUS	1 lab	899c75e0e1
7:147869397 CNTNAP2 C>A	7	147869397	147869397	C	A	CNTNAP2	c.2837C>A	NM_014141.6	NP_054860.1:p.(Thr946Lys)	NC_000007.13:g.147869397C>A	VUS	1 lab	899dbefbf9
7:103301882 RELN A>G	7	103301882	103301882	A	G	RELN	c.1382T>C	NM_005045.4	NP_005036.2:p.(Leu461Ser)	NC_000007.13:g.103301882A>G	(Likely) benign	1 lab	899dd9cb2b
11:73715013 UCP3 C>T	11	73715013	73715013	C	T	UCP3	c.683G>A	NM_003356.4	NP_003347.1:p.(Gly228Asp)	NC_000011.9:g.73715013C>T	VUS	1 lab	899f30c661
11:64813994 NAALADL1 T>C	11	64813994	64813994	T	C	NAALADL1	c.1604A>G	NM_005468.3	NP_005459.2:p.(Lys535Arg)	NC_000011.9:g.64813994T>C	VUS	1 lab	899f43ca62
5:156753209 CYFIP2 C>T	5	156753209	156753209	C	T	CYFIP2	c.2013C>T	NM_001037333.3	NP_001032410.1:p.(Asn671=)	NC_000005.9:g.156753209C>T	(Likely) benign	1 lab	250e29c469
15:60789725 RORA G>A	15	60789725	60789725	G	A	RORA	c.1501C>T	NM_134261.3	NP_599023.1:p.(Leu501Phe)	NC_000015.9:g.60789725G>A	(Likely) benign	1 lab	89a1a0eba3
14:91739486 CCDC88C G>A	14	91739486	91739486	G	A	CCDC88C	c.5570C>T	NM_001080414.4	NP_001073883.2:p.(Ala1857Val)	NC_000014.8:g.91739486G>A	(Likely) benign	1 lab	89a48bffd8
17:41179194 RND2 C>T	17	41179194	41179194	C	T	RND2	c.191-6C>T	NM_005440.5	NP_005431.1:p.?	NC_000017.10:g.41179194C>T	VUS	1 lab	89a653e9fb
18:31324470 ASXL3 C>T	18	31324470	31324470	C	T	ASXL3	c.4658C>T	NM_030632.3	NP_085135.1:p.(Pro1553Leu)	NC_000018.9:g.31324470C>T	(Likely) benign	1 lab	89a840db3b
5:125885933 ALDH7A1 C>A	5	125885933	125885933	C	A	ALDH7A1	c.1370G>T	NM_001182.5	NP_001173.2:p.(Ser457Ile)	NC_000005.9:g.125885933C>A	(Likely) pathogenic	1 lab	267cbf32f6
X:69502080 RAB41 G>C	X	69502080	69502080	G	C	RAB41	c.13G>C	NM_001363807.1	NP_001350736.1:p.(Gly5Arg)	NC_000023.10:g.69502080G>C	VUS	1 lab	89ae47ce73
2:113522145 CKAP2L C>T	2	113522145	113522145	C	T	CKAP2L	c.31G>A	NM_152515.5	NP_689728.3:p.(Ala11Thr)	NC_000002.11:g.113522145C>T	(Likely) benign	1 lab	89ae80ebd7
3:47163144 SETD2 A>T	3	47163144	47163144	A	T	SETD2	c.2982T>A	NM_014159.7	NP_054878.5:p.(Asp994Glu)	NC_000003.11:g.47163144A>T	(Likely) benign	1 lab	89b105b38b
1:248756477 OR2T10 A>C	1	248756477	248756477	A	C	OR2T10	c.593T>G	NM_001004693.2	NP_001004693.1:p.(Phe198Cys)	NC_000001.10:g.248756477A>C	VUS	1 lab	89b18882f8
2:99169439 INPP4A G>A	2	99169439	99169439	G	A	INPP4A	c.1347+7G>A	NM_001134225.2	NP_001127697.1:p.?	NC_000002.11:g.99169439G>A	(Likely) benign	1 lab	89b247c5e1
10:73579217 PSAP C>G	10	73579217	73579217	C	G	PSAP	c.1350+5G>C	NM_002778.4	NP_002769.1:p.?	NC_000010.10:g.73579217C>G	VUS	1 lab	89b290fb79
6:157099433 ARID1B C>CAGG	6	157099433	157099436	C	CAGG	ARID1B	c.621_622insGAG	NM_001374828.1	NP_001361757.1:p.(Gln207_Gln208insGlu)	NC_000006.11:g.157099435_157099436insGAG	(Likely) benign	1 lab	89b3c3ea16
19:40895785 HIPK4 C>T	19	40895785	40895785	C	T	HIPK4	c.25G>A	NM_144685.5	NP_653286.2:p.(Asp9Asn)	NC_000019.9:g.40895785C>T	VUS	1 lab	89b414a5fe
2:179569696 TTN GAGA>G	2	179569696	179569703	GAGA	G	TTN	c.29605-6_29605-4del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179569701_179569703del	(Likely) benign	1 lab	89b6316339
4:6303155 WFS1 G>C	4	6303155	6303155	G	C	WFS1	c.1633G>C	NM_006005.3	NP_005996.2:p.(Val545Leu)	NC_000004.11:g.6303155G>C	VUS	1 lab	89b8abc13a
10:79554714 DLG5 G>T	10	79554714	79554714	G	T	DLG5	c.5439C>A	NM_004747.4	NP_004738.3:p.(Asn1813Lys)	NC_000010.10:g.79554714G>T	(Likely) benign	1 lab	89b8d7694f
20:34021946 GDF5 C>G	20	34021946	34021946	C	G	GDF5	c.1267G>C	NM_000557.5	NP_000548.2:p.(Glu423Gln)	NC_000020.10:g.34021946C>G	VUS	1 lab	89b8db2ebb
6:36672065 RAB44 G>A	6	36672065	36672065	G	A	RAB44	c.53G>A	NM_001257357.2	NP_001244286.1:p.(Arg18Gln)	NC_000006.11:g.36672065G>A	(Likely) benign	1 lab	89bae4545d
7:142574584 TRPV6 T>C	7	142574584	142574584	T	C	TRPV6	c.614A>G	NM_018646.6	NP_061116.5:p.(His205Arg)	NC_000007.13:g.142574584T>C	VUS	1 lab	89bbbfef3c
19:12763084 MAN2B1 C>T	19	12763084	12763084	C	T	MAN2B1	c.1929G>A	NM_000528.4	NP_000519.2:p.(Trp643Ter)	NC_000019.9:g.12763084C>T	(Likely) pathogenic	1 lab	89bbc42527
1:158654658 SPTA1 T>C	1	158654658	158654658	T	C	SPTA1	c.264+240A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158654658T>C	(Likely) benign	1 lab	267d4d466b
4:103592505 MANBA C>T	4	103592505	103592505	C	T	MANBA	c.1163G>A	NM_005908.4	NP_005899.3:p.(Arg388Gln)	NC_000004.11:g.103592505C>T	VUS	1 lab	89c06f6869
X:101971500 GPRASP2 G>A	X	101971500	101971500	G	A	GPRASP2	c.1703G>A	NM_001004051.4	NP_001004051.1:p.(Arg568Gln)	NC_000023.10:g.101971500G>A	VUS	1 lab	89c28e8fcb
10:127456240 MMP21 T>A	10	127456240	127456240	T	A	MMP21	c.1271A>T	NM_147191.1	NP_671724.1:p.(Asp424Val)	NC_000010.10:g.127456240T>A	VUS	1 lab	89c299e7f6
17:62026893 SCN4A G>A	17	62026893	62026893	G	A	SCN4A	c.2854-5C>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62026893G>A	(Likely) benign	1 lab	267d8e02db
1:48713210 SLC5A9 G>A	1	48713210	48713210	G	A	SLC5A9	c.2041G>A	NM_001011547.3	NP_001011547.2:p.(Ala681Thr)	NC_000001.10:g.48713210G>A	(Likely) benign	1 lab	89c2cf1925
10:27013060 PDSS1 C>T	10	27013060	27013060	C	T	PDSS1	c.831+8C>T	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27013060C>T	(Likely) benign	1 lab	89c51ada3a
17:8050992 PER1 G>T	17	8050992	8050992	G	T	PER1	c.1388C>A	NM_002616.3	NP_002607.2:p.(Thr463Lys)	NC_000017.10:g.8050992G>T	VUS	1 lab	89c52869b7
10:127459062 MMP21 G>A	10	127459062	127459062	G	A	MMP21	c.1078C>T	NM_147191.1	NP_671724.1:p.(Arg360Cys)	NC_000010.10:g.127459062G>A	VUS	1 lab	89c6ec7dcd
21:47852020 PCNT G>A	21	47852020	47852020	G	A	PCNT	c.8642G>A	NM_006031.6	NP_006022.3:p.(Arg2881Gln)	NC_000021.8:g.47852020G>A	(Likely) benign	1 lab	89c96a8805
19:17013645 CPAMD8 G>A	19	17013645	17013645	G	A	CPAMD8	c.4499C>T	NM_015692.5	NP_056507.3:p.(Pro1500Leu)	NC_000019.9:g.17013645G>A	VUS	1 lab	89ca539929
12:56713551 PAN2 A>T	12	56713551	56713551	A	T	PAN2	c.2947-3T>A	NM_014871.6	NP_055686.4:p.?	NC_000012.11:g.56713551A>T	VUS	1 lab	89cab5b28a
1:145296478 NBPF10 G>T	1	145296478	145296478	G	T	NBPF10	c.400G>T	NM_001302371.3	NP_001289300.1:p.(Asp134Tyr)	NC_000001.10:g.145296478G>T	VUS	1 lab	89cb3c9e5c
16:1270181 CACNA1H G>A	16	1270181	1270181	G	A	CACNA1H	c.6249G>A	NM_021098.3	NP_066921.2:p.(Pro2083=)	NC_000016.9:g.1270181G>A	(Likely) benign	1 lab	267f3cd265
11:406961 SIGIRR C>T	11	406961	406961	C	T	SIGIRR	c.761G>A	NM_001135054.2	NP_001128526.1:p.(Arg254His)	NC_000011.9:g.406961C>T	VUS	1 lab	89ccf3ed5b
X:41069857 USP9X T>C	X	41069857	41069857	T	C	USP9X	c.5111T>C	NM_001039591.3	NP_001034680.2:p.(Leu1704Ser)	NC_000023.10:g.41069857T>C	VUS	1 lab	89cd9a6314
6:75851829 COL12A1 A>C	6	75851829	75851829	A	C	COL12A1	c.4876T>G	NM_004370.6	NP_004361.3:p.(Ser1626Ala)	NC_000006.11:g.75851829A>C	(Likely) benign	1 lab	89cee559f4
2:220077958 ABCB6 C>T	2	220077958	220077958	C	T	ABCB6	c.1805+5G>A	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220077958C>T	(Likely) benign	1 lab	89cf30aa51
14:105353659 CEP170B G>A	14	105353659	105353659	G	A	CEP170B	c.3083G>A	NM_001112726.3	NP_001106197.1:p.(Arg1028His)	NC_000014.8:g.105353659G>A	(Likely) benign	1 lab	89d024253b
4:57899426 IGFBP7 G>A	4	57899426	57899426	G	A	IGFBP7	c.637C>T	NM_001553.3	NP_001544.1:p.(Arg213Trp)	NC_000004.11:g.57899426G>A	VUS	1 lab	89d07cfc50
12:89995138 ATP2B1 T>C	12	89995138	89995138	T	C	ATP2B1	c.3133A>G	NM_001366521.1	NP_001353450.1:p.(Ile1045Val)	NC_000012.11:g.89995138T>C	(Likely) benign	1 lab	89d0a3e139
2:196771454 DNAH7 G>T	2	196771454	196771454	G	T	DNAH7	c.4264C>A	NM_018897.3	NP_061720.2:p.(Pro1422Thr)	NC_000002.11:g.196771454G>T	(Likely) benign	1 lab	89d16ad4a1
1:152275795 FLG C>T	1	152275795	152275795	C	T	FLG	c.11567G>A	NM_002016.2	NP_002007.1:p.(Ser3856Asn)	NC_000001.10:g.152275795C>T	VUS	1 lab	89d1e93fc8
7:91621495 AKAP9 G>A	7	91621495	91621495	G	A	AKAP9	c.375G>A	NM_005751.5	NP_005742.4:p.(Met125Ile)	NC_000007.13:g.91621495G>A	VUS	1 lab	89d1fe99c7
8:21965372 NUDT18 C>T	8	21965372	21965372	C	T	NUDT18	c.411G>A	NM_024815.4	NP_079091.3:p.(Ala137=)	NC_000008.10:g.21965372C>T	(Likely) benign	1 lab	89d27d03ca
19:55871302 GARIN5B C>G	19	55871302	55871302	C	G	GARIN5B	c.934G>C	NM_001145402.2	NP_001138874.1:p.(Val312Leu)	NC_000019.9:g.55871302C>G	(Likely) benign	1 lab	89d8895e44
19:42373777 RPS19 A>G	19	42373777	42373777	A	G	RPS19	c.365A>G	NM_001022.4	NP_001013.1:p.(Lys122Arg)	NC_000019.9:g.42373777A>G	VUS	1 lab	89d99a78b7
11:71948802 INPPL1 C>T	11	71948802	71948802	C	T	INPPL1	c.3514C>T	NM_001567.4	NP_001558.3:p.(Arg1172Cys)	NC_000011.9:g.71948802C>T	(Likely) benign	1 lab	89da9b24e4
11:108199878 ATM C>A	11	108199878	108199878	C	A	ATM	c.7220C>A	NM_000051.4	NP_000042.3:p.(Ser2407Ter)	NC_000011.9:g.108199878C>A	(Likely) pathogenic	1 lab	89dded2e6f
1:201185742 IGFN1 C>T	1	201185742	201185742	C	T	IGFN1	c.9456C>T	NM_001164586.2	NP_001158058.1:p.(Gly3152=)	NC_000001.10:g.201185742C>T	(Likely) benign	1 lab	89dfca9952
16:2168831 PKD1 G>T	16	2168831	2168831	G	T	PKD1	c.375C>A	NM_001009944.3	NP_001009944.3:p.(Asn125Lys)	NC_000016.9:g.2168831G>T	VUS	1 lab	89e04d1a33
2:220085919 ATG9A G>A	2	220085919	220085919	G	A	ATG9A	c.2251C>T	NM_001077198.3	NP_001070666.1:p.(Arg751Trp)	NC_000002.11:g.220085919G>A	(Likely) benign	1 lab	89e0a0f8c5
20:50408806 SALL4 G>A	20	50408806	50408806	G	A	SALL4	c.216C>T	NM_020436.5	NP_065169.1:p.(His72=)	NC_000020.10:g.50408806G>A	(Likely) benign	1 lab	89e196a19d
10:124361427 DMBT1 C>T	10	124361427	124361427	C	T	DMBT1	c.3458C>T	NM_001377530.1	NP_001364459.1:p.(Thr1153Ile)	NC_000010.10:g.124361427C>T	VUS	1 lab	89e5bb559a
16:89346205 ANKRD11 G>A	16	89346205	89346205	G	A	ANKRD11	c.6745C>T	NM_013275.6	NP_037407.4:p.(Arg2249Cys)	NC_000016.9:g.89346205G>A	(Likely) benign	1 lab	89e6b218d1
1:115280660 CSDE1 C>T	1	115280660	115280660	C	T	CSDE1	c.233G>A	NM_001007553.3	NP_001007554.1:p.(Arg78Gln)	NC_000001.10:g.115280660C>T	VUS	1 lab	89e7249458
1:6845577 CAMTA1 CGAG>C	1	6845577	6845591	CGAG	C	CAMTA1	c.-2_1del	NM_015215.4	NP_056030.1:p.(Met1?)	NC_000001.10:g.6845589_6845591del	(Likely) benign	1 lab	89e868f0cd
11:43465070 TTC17 A>G	11	43465070	43465070	A	G	TTC17	c.2447A>G	NM_018259.6	NP_060729.2:p.(Asp816Gly)	NC_000011.9:g.43465070A>G	(Likely) benign	1 lab	89e87ee25f
X:30236890 MAGEB2 G>GC	X	30236890	30236894	G	GC	MAGEB2	c.197dup	NM_002364.5	NP_002355.2:p.(Thr67AsnfsTer16)	NC_000023.10:g.30236894dup	VUS	1 lab	89e8b28c8e
5:140812178 PCDHGA12 T>G	5	140812178	140812178	T	G	PCDHGA12	c.1852T>G	NM_003735.3	NP_003726.1:p.(Ser618Ala)	NC_000005.9:g.140812178T>G	(Likely) benign	1 lab	89e947a875
17:38451656 CDC6 C>T	17	38451656	38451656	C	T	CDC6	c.1132C>T	NM_001254.4	NP_001245.1:p.(Arg378Cys)	NC_000017.10:g.38451656C>T	VUS	1 lab	89e9e21dd6
13:25672158 PABPC3 G>A	13	25672158	25672158	G	A	PABPC3	c.1822G>A	NM_030979.3	NP_112241.2:p.(Val608Ile)	NC_000013.10:g.25672158G>A	VUS	1 lab	89eae8a747
17:79867393 PCYT2 C>A	17	79867393	79867393	C	A	PCYT2	c.175G>T	NM_002861.5	NP_002852.1:p.(Asp59Tyr)	NC_000017.10:g.79867393C>A	VUS	1 lab	89ecfb56b4
13:36124631 NBEA G>A	13	36124631	36124631	G	A	NBEA	c.6603G>A	NM_015678.4	NP_056493.3:p.(Glu2201=)	NC_000013.10:g.36124631G>A	(Likely) benign	1 lab	2683d452f1
7:140482930 BRAF G>T	7	140482930	140482930	G	T	BRAF	c.1205C>A	NM_004333.6	NP_004324.2:p.(Pro402His)	NC_000007.13:g.140482930G>T	(Likely) benign	1 lab	89ed6354ea
X:152959996 SLC6A8 C>T	X	152959996	152959996	C	T	SLC6A8	c.1504C>T	NM_005629.4	NP_005620.1:p.(Arg502Cys)	NC_000023.10:g.152959996C>T	VUS	1 lab	89edb33d18
20:9434025 PLCB4 C>T	20	9434025	9434025	C	T	PLCB4	c.2912C>T	NM_001377142.1	NP_001364071.1:p.(Thr971Met)	NC_000020.10:g.9434025C>T	VUS	1 lab	89f046859f
20:44578447 ZNF335 CGGA>C	20	44578447	44578452	CGGA	C	ZNF335	c.3658_3660del	NM_022095.4	NP_071378.1:p.(Ser1220del)	NC_000020.10:g.44578450_44578452del	VUS	1 lab	89f08925fc
17:1634183 WDR81 C>T	17	1634183	1634183	C	T	WDR81	c.3910C>T	NM_001163809.2	NP_001157281.1:p.(Arg1304Cys)	NC_000017.10:g.1634183C>T	(Likely) benign	1 lab	89f3772951
1:22179315 HSPG2 G>A	1	22179315	22179315	G	A	HSPG2	c.6602C>T	NM_005529.7	NP_005520.4:p.(Ser2201Leu)	NC_000001.10:g.22179315G>A	(Likely) benign	1 lab	89f4091e4f
7:150768585 SLC4A2 A>T	7	150768585	150768585	A	T	SLC4A2	c.2084A>T	NM_003040.4	NP_003031.3:p.(His695Leu)	NC_000007.13:g.150768585A>T	VUS	1 lab	89f4b6bd3a
1:27105724 ARID1A G>A	1	27105724	27105724	G	A	ARID1A	c.5335G>A	NM_006015.6	NP_006006.3:p.(Glu1779Lys)	NC_000001.10:g.27105724G>A	(Likely) benign	1 lab	89f56a6137
19:11363489 DOCK6 C>T	19	11363489	11363489	C	T	DOCK6	c.278G>A	NM_020812.4	NP_065863.2:p.(Arg93Gln)	NC_000019.9:g.11363489C>T	VUS	1 lab	89f5fdc581
21:32638353 TIAM1 C>T	21	32638353	32638353	C	T	TIAM1	c.936G>A	NM_001353694.2	NP_001340623.1:p.(Met312Ile)	NC_000021.8:g.32638353C>T	VUS	1 lab	89f5ff3997
11:68174114 LRP5 G>A	11	68174114	68174114	G	A	LRP5	c.1924G>A	NM_002335.4	NP_002326.2:p.(Val642Met)	NC_000011.9:g.68174114G>A	VUS	1 lab	89f9effa10
19:1470207 APC2 G>A	19	1470207	1470207	G	A	APC2	c.6907G>A	NM_005883.3	NP_005874.1:p.(Glu2303Lys)	NC_000019.9:g.1470207G>A	VUS	1 lab	89fbf1991d
7:21584651 DNAH11 GT>G	7	21584651	21584656	GT	G	DNAH11	c.384del	NM_001277115.2	NP_001264044.1:p.(Phe128LeufsTer12)	NC_000007.13:g.21584656del	(Likely) pathogenic	1 lab	89fc662692
22:24224974 SLC2A11 G>A	22	24224974	24224974	G	A	SLC2A11	c.911G>A	NM_001024939.4	NP_001020110.1:p.(Arg304Gln)	NC_000022.10:g.24224974G>A	(Likely) benign	1 lab	89fd68d52e
2:179611763 TTN C>T	2	179611763	179611763	C	T	TTN	c.11312-5115G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611763C>T	(Likely) benign	1 lab	89fdbd6787
1:204955236 NFASC G>C	1	204955236	204955236	G	C	NFASC	c.2471-1310G>C	NM_001005388.3	NP_001005388.2:p.?	NC_000001.10:g.204955236G>C	VUS	1 lab	8a03c8da64
6:36259120 PNPLA1 G>A	6	36259120	36259120	G	A	PNPLA1	c.229G>A	NM_001374623.1	NP_001361552.1:p.(Val77Met)	NC_000006.11:g.36259120G>A	(Likely) benign	1 lab	8a03f39ecc
16:29811316 KIF22 G>C	16	29811316	29811316	G	C	KIF22	c.1227G>C	NM_007317.3	NP_015556.1:p.(Glu409Asp)	NC_000016.9:g.29811316G>C	(Likely) benign	1 lab	8a04459ad4
12:99076982 APAF1 A>G	12	99076982	99076982	A	G	APAF1	c.2108A>G	NM_181861.2	NP_863651.1:p.(Asn703Ser)	NC_000012.11:g.99076982A>G	VUS	1 lab	8a06efff4b
1:22149967 LDLRAD2 C>T	1	22149967	22149967	C	T	LDLRAD2	c.*1259C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149967C>T	(Likely) benign	1 lab	8a07d0faca
7:39247183 POU6F2 G>A	7	39247183	39247183	G	A	POU6F2	c.562G>A	NM_001370959.1	NP_001357888.1:p.(Gly188Arg)	NC_000007.13:g.39247183G>A	VUS	1 lab	8a0bba998c
17:29325953 RNF135 G>A	17	29325953	29325953	G	A	RNF135	c.1043G>A	NM_032322.4	NP_115698.3:p.(Cys348Tyr)	NC_000017.10:g.29325953G>A	VUS	1 lab	8a0c646fd9
14:105408518 AHNAK2 C>T	14	105408518	105408518	C	T	AHNAK2	c.13270G>A	NM_138420.4	NP_612429.2:p.(Val4424Met)	NC_000014.8:g.105408518C>T	(Likely) benign	1 lab	8a0d56c4ff
3:27763405 EOMES CGCG>C	3	27763405	27763428	CGCG	C	EOMES	c.378_380del	NM_001278182.2	NP_001265111.1:p.(Ala130del)	NC_000003.11:g.27763426_27763428del	VUS	1 lab	8a0df00a66
7:21698464 DNAH11 C>T	7	21698464	21698464	C	T	DNAH11	c.5143C>T	NM_001277115.2	NP_001264044.1:p.(Arg1715Cys)	NC_000007.13:g.21698464C>T	(Likely) benign	1 lab	8a12f56783
1:2418602 PLCH2 C>T	1	2418602	2418602	C	T	PLCH2	c.911-10C>T	NM_014638.4	NP_055453.2:p.?	NC_000001.10:g.2418602C>T	(Likely) benign	1 lab	8a13b9de74
20:13371020 TASP1 C>A	20	13371020	13371020	C	A	TASP1	c.1250G>T	NM_017714.3	NP_060184.2:p.(Ser417Ile)	NC_000020.10:g.13371020C>A	VUS	1 lab	8a13f4e112
4:79403635 FRAS1 G>T	4	79403635	79403635	G	T	FRAS1	c.8698G>T	NM_025074.7	NP_079350.5:p.(Glu2900Ter)	NC_000004.11:g.79403635G>T	(Likely) pathogenic	1 lab	8a143aa560
22:45914606 FBLN1 C>T	22	45914606	45914606	C	T	FBLN1	c.124C>T	NM_006486.3	NP_006477.3:p.(Arg42Trp)	NC_000022.10:g.45914606C>T	VUS	1 lab	8a14c60216
X:17745507 NHS T>C	X	17745507	17745507	T	C	NHS	c.3281T>C	NM_001291867.2	NP_001278796.1:p.(Leu1094Pro)	NC_000023.10:g.17745507T>C	VUS	1 lab	8a15fe2f32
10:67829051 CTNNA3 T>C	10	67829051	67829051	T	C	CTNNA3	c.2159+15A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67829051T>C	(Likely) benign	1 lab	2687167a3c
19:11326115 DOCK6 G>A	19	11326115	11326115	G	A	DOCK6	c.4054C>T	NM_020812.4	NP_065863.2:p.(Arg1352Cys)	NC_000019.9:g.11326115G>A	VUS	1 lab	8a179a23e8
8:86377534 CA2 C>T	8	86377534	86377534	C	T	CA2	c.68C>T	NM_000067.3	NP_000058.1:p.(Ala23Val)	NC_000008.10:g.86377534C>T	VUS	1 lab	8a17da21ad
7:76140189 UPK3B G>A	7	76140189	76140189	G	A	UPK3B	c.86-31G>A	NM_001347684.2	NP_001334613.1:p.?	NC_000007.13:g.76140189G>A	VUS	1 lab	8a17da7596
8:133923685 TG T>C	8	133923685	133923685	T	C	TG	c.4066T>C	NM_003235.5	NP_003226.4:p.(Cys1356Arg)	NC_000008.10:g.133923685T>C	VUS	1 lab	8a1968cf2e
5:13919366 DNAH5 G>C	5	13919366	13919366	G	C	DNAH5	c.894C>G	NM_001369.3	NP_001360.1:p.(Asn298Lys)	NC_000005.9:g.13919366G>C	(Likely) benign	1 lab	8a1a32154b
16:56378335 GNAO1 A>G	16	56378335	56378335	A	G	GNAO1	c.724-6961A>G	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56378335A>G	(Likely) benign	1 lab	8a1a3360ce
19:19744614 GMIP C>T	19	19744614	19744614	C	T	GMIP	c.2470G>A	NM_016573.4	NP_057657.2:p.(Glu824Lys)	NC_000019.9:g.19744614C>T	(Likely) benign	1 lab	8a1a8aa954
16:2140601 PKD1 A>G	16	2140601	2140601	A	G	PKD1	c.12139-10T>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140601A>G	(Likely) benign	1 lab	8a1ae1582e
2:97909692 ANKRD36 G>A	2	97909692	97909692	G	A	ANKRD36	c.4417G>A	NM_001354587.1	NP_001341516.1:p.(Val1473Met)	NC_000002.11:g.97909692G>A	(Likely) benign	1 lab	8a1c68cb30
11:108098610 ATM TTTTA>T	11	108098610	108098614	TTTTA	T	ATM	c.181_184del	NM_000051.4	NP_000042.3:p.(Phe61AspfsTer14)	NC_000011.9:g.108098611_108098614del	(Likely) pathogenic	1 lab	251830cae4
21:46275155 PTTG1IP T>C	21	46275155	46275155	T	C	PTTG1IP	c.466A>G	NM_004339.4	NP_004330.1:p.(Thr156Ala)	NC_000021.8:g.46275155T>C	(Likely) benign	1 lab	8a1e100cd7
10:93754378 BTAF1 A>G	10	93754378	93754378	A	G	BTAF1	c.3286A>G	NM_003972.3	NP_003963.1:p.(Met1096Val)	NC_000010.10:g.93754378A>G	(Likely) benign	1 lab	8a1e60459b
1:94568639 ABCA4 T>C	1	94568639	94568639	T	C	ABCA4	c.502A>G	NM_000350.3	NP_000341.2:p.(Ile168Val)	NC_000001.10:g.94568639T>C	(Likely) benign	1 lab	8a2000a178
9:133241046 HMCN2 G>A	9	133241046	133241046	G	A	HMCN2	c.6437G>A	NM_001291815.2	NP_001278744.1:p.(Gly2146Asp)	NC_000009.11:g.133241046G>A	VUS	1 lab	8a20139ead
19:54972093 LENG8 G>C	19	54972093	54972093	G	C	LENG8	c.2388G>C	NM_052925.4	NP_443157.1:p.(Gln796His)	NC_000019.9:g.54972093G>C	(Likely) benign	1 lab	8a24b7f25e
11:64418119 NRXN2 C>T	11	64418119	64418119	C	T	NRXN2	c.2919-9G>A	NM_015080.4	NP_055895.1:p.?	NC_000011.9:g.64418119C>T	(Likely) benign	1 lab	8a25069a02
17:40271369 KAT2A G>A	17	40271369	40271369	G	A	KAT2A	c.967C>T	NM_021078.3	NP_066564.2:p.(Arg323Trp)	NC_000017.10:g.40271369G>A	VUS	1 lab	8a272f8cee
2:152363468 NEB C>T	2	152363468	152363468	C	T	NEB	c.23511G>A	NM_001164508.2	NP_001157980.2:p.(Thr7837=)	NC_000002.11:g.152363468C>T	(Likely) benign	1 lab	8a27665d21
6:26156905 H1-4 C>T	6	26156905	26156905	C	T	H1-4	c.287C>T	NM_005321.3	NP_005312.1:p.(Thr96Ile)	NC_000006.11:g.26156905C>T	VUS	1 lab	8a288c2b25
4:77100796 SCARB2 G>A	4	77100796	77100796	G	A	SCARB2	c.486C>T	NM_005506.4	NP_005497.1:p.(Ala162=)	NC_000004.11:g.77100796G>A	(Likely) benign	1 lab	2690afd932
5:78280875 ARSB C>T	5	78280875	78280875	C	T	ARSB	c.197G>A	NM_000046.5	NP_000037.2:p.(Arg66His)	NC_000005.9:g.78280875C>T	(Likely) benign	1 lab	8a29b8a61e
8:70536300 SULF1 T>C	8	70536300	70536300	T	C	SULF1	c.1718T>C	NM_001128205.2	NP_001121677.1:p.(Ile573Thr)	NC_000008.10:g.70536300T>C	(Likely) benign	1 lab	8a2b6b5318
19:38959715 RYR1 A>G	19	38959715	38959715	A	G	RYR1	c.3491A>G	NM_000540.3	NP_000531.2:p.(Asn1164Ser)	NC_000019.9:g.38959715A>G	VUS	1 lab	8a2cbefcb7
17:40370174 STAT5B G>A	17	40370174	40370174	G	A	STAT5B	c.1164C>T	NM_012448.4	NP_036580.2:p.(Thr388=)	NC_000017.10:g.40370174G>A	(Likely) benign	1 lab	8a2e47114a
X:111698509 RTL4 G>A	X	111698509	111698509	G	A	RTL4	c.553G>A	NM_001395362.2	NP_001382291.1:p.(Glu185Lys)	NC_000023.10:g.111698509G>A	(Likely) benign	1 lab	8a2f2131de
22:26423477 MYO18B G>A	22	26423477	26423477	G	A	MYO18B	c.7537G>A	NM_032608.7	NP_115997.5:p.(Gly2513Ser)	NC_000022.10:g.26423477G>A	(Likely) benign	1 lab	8a2f90fd5d
19:40412129 FCGBP G>A	19	40412129	40412129	G	A	FCGBP	c.3499C>T	NM_003890.3	NP_003881.2:p.(His1167Tyr)	NC_000019.9:g.40412129G>A	VUS	1 lab	8a2fcdd3a9
8:124992722 FER1L6 G>C	8	124992722	124992722	G	C	FER1L6	c.1081G>C	NM_001039112.2	NP_001034201.2:p.(Gly361Arg)	NC_000008.10:g.124992722G>C	VUS	1 lab	8a302bef52
11:17426143 ABCC8 T>C	11	17426143	17426143	T	C	ABCC8	c.3473A>G	NM_000352.6	NP_000343.2:p.(Tyr1158Cys)	NC_000011.9:g.17426143T>C	VUS	1 lab	8a30d5e632
17:4444853 MYBBP1A G>A	17	4444853	4444853	G	A	MYBBP1A	c.3202C>T	NM_014520.4	NP_055335.2:p.(Arg1068Cys)	NC_000017.10:g.4444853G>A	VUS	1 lab	8a3153e588
2:1865654 MYT1L A>C	2	1865654	1865654	A	C	MYT1L	c.2712-10179T>G	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1865654A>C	(Likely) benign	1 lab	8a317e533e
19:11348985 DOCK6 G>C	19	11348985	11348985	G	C	DOCK6	c.1644-5C>G	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11348985G>C	(Likely) benign	1 lab	2526331c29
18:31318613 ASXL3 G>T	18	31318613	31318613	G	T	ASXL3	c.1245G>T	NM_030632.3	NP_085135.1:p.(Glu415Asp)	NC_000018.9:g.31318613G>T	(Likely) benign	1 lab	8a32a4561f
5:140188007 PCDHA1 C>T	5	140188007	140188007	C	T	PCDHA1	c.2394+19738C>T	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140188007C>T	(Likely) benign	1 lab	8a334a8ce9
1:16054036 PLEKHM2 C>T	1	16054036	16054036	C	T	PLEKHM2	c.1469C>T	NM_015164.4	NP_055979.2:p.(Pro490Leu)	NC_000001.10:g.16054036C>T	VUS	1 lab	8a340730b7
2:166245952 SCN2A T>C	2	166245952	166245952	T	C	SCN2A	c.5636T>C	NM_021007.3	NP_066287.2:p.(Met1879Thr)	NC_000002.11:g.166245952T>C	(Likely) pathogenic	1 lab	25283763dc
1:236732427 HEATR1 G>A	1	236732427	236732427	G	A	HEATR1	c.3949-3C>T	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236732427G>A	(Likely) benign	1 lab	8a382908e9
1:237838116 RYR2 G>A	1	237838116	237838116	G	A	RYR2	c.8800G>A	NM_001035.3	NP_001026.2:p.(Asp2934Asn)	NC_000001.10:g.237838116G>A	VUS	1 lab	8a3840b8a8
4:72102373 SLC4A4 T>C	4	72102373	72102373	T	C	SLC4A4	c.73+7T>C	NM_001098484.3	NP_001091954.1:p.?	NC_000004.11:g.72102373T>C	(Likely) benign	1 lab	8a39391987
18:20516882 RBBP8 T>A	18	20516882	20516882	T	A	RBBP8	c.68T>A	NM_002894.3	NP_002885.1:p.(Leu23His)	NC_000018.9:g.20516882T>A	VUS	1 lab	8a3aca606f
11:47611672 C1QTNF4 A>C	11	47611672	47611672	A	C	C1QTNF4	c.691T>G	NM_031909.3	NP_114115.2:p.(Phe231Val)	NC_000011.9:g.47611672A>C	VUS	1 lab	8a3ae0798f
1:179530414 NPHS2 G>GT	1	179530414	179530421	G	GT	NPHS2	c.451+9dup	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179530421dup	(Likely) benign	1 lab	2699c77a3a
14:21623359 OR5AU1 T>C	14	21623359	21623359	T	C	OR5AU1	c.673A>G	NM_001004731.3	NP_001004731.2:p.(Ile225Val)	NC_000014.8:g.21623359T>C	VUS	1 lab	8a3e0f0c3a
16:1259410 CACNA1H G>A	16	1259410	1259410	G	A	CACNA1H	c.3742G>A	NM_021098.3	NP_066921.2:p.(Asp1248Asn)	NC_000016.9:g.1259410G>A	VUS	1 lab	8a3ea598b0
16:2150460 PKD1 G>A	16	2150460	2150460	G	A	PKD1	c.9505C>T	NM_001009944.3	NP_001009944.3:p.(Arg3169Trp)	NC_000016.9:g.2150460G>A	VUS	1 lab	8a3f0fd093
X:152721811 HAUS7 G>C	X	152721811	152721811	G	C	HAUS7	c.617C>G	NM_001385482.1	NP_001372411.1:p.(Ser206Cys)	NC_000023.10:g.152721811G>C	(Likely) benign	1 lab	8a40296fd8
3:49137413 QARS1 G>T	3	49137413	49137413	G	T	QARS1	c.1276C>A	NM_005051.3	NP_005042.1:p.(His426Asn)	NC_000003.11:g.49137413G>T	VUS	1 lab	8a4054c0c7
3:33109752 GLB1 C>T	3	33109752	33109752	C	T	GLB1	c.427G>A	NM_000404.4	NP_000395.3:p.(Glu143Lys)	NC_000003.11:g.33109752C>T	VUS	1 lab	8a41f1a5a4
2:179579859 TTN C>T	2	179579859	179579859	C	T	TTN	c.26054G>A	NM_001267550.2	NP_001254479.2:p.(Ser8685Asn)	NC_000002.11:g.179579859C>T	(Likely) benign	1 lab	8a41fa70a1
17:8508223 MYH10 C>T	17	8508223	8508223	C	T	MYH10	c.423G>A	NM_001256012.3	NP_001242941.1:p.(Met141Ile)	NC_000017.10:g.8508223C>T	VUS	1 lab	8a4225fd49
20:2291722 TGM3 A>C	20	2291722	2291722	A	C	TGM3	c.487A>C	NM_003245.4	NP_003236.3:p.(Ile163Leu)	NC_000020.10:g.2291722A>C	(Likely) benign	1 lab	8a441eb19a
12:54793736 ITGA5 A>G	12	54793736	54793736	A	G	ITGA5	c.2644-5T>C	NM_002205.5	NP_002196.4:p.?	NC_000012.11:g.54793736A>G	(Likely) benign	1 lab	8a44ef5ce3
19:5705939 LONP1 TTGA>T	19	5705939	5705946	TTGA	T	LONP1	c.1208_1210del	NM_004793.4	NP_004784.2:p.(Ile403del)	NC_000019.9:g.5705944_5705946del	VUS	1 lab	8a4527acef
19:50985188 EMC10 C>T	19	50985188	50985188	C	T	EMC10	c.679-218C>T	NM_206538.4	NP_996261.1:p.?	NC_000019.9:g.50985188C>T	(Likely) benign	1 lab	8a45425cae
9:95022464 IARS1 T>C	9	95022464	95022464	T	C	IARS1	c.1840A>G	NM_002161.6	NP_002152.2:p.(Ile614Val)	NC_000009.11:g.95022464T>C	(Likely) benign	1 lab	8a459388f2
12:2783740 CACNA1C C>T	12	2783740	2783740	C	T	CACNA1C	c.4760C>T	NM_000719.7	NP_000710.5:p.(Ala1587Val)	NC_000012.11:g.2783740C>T	VUS	1 lab	8a46a05e20
19:39408377 SARS2 C>T	19	39408377	39408377	C	T	SARS2	c.1147G>A	NM_017827.4	NP_060297.1:p.(Gly383Ser)	NC_000019.9:g.39408377C>T	VUS	1 lab	252864717a
5:13794050 DNAH5 C>A	5	13794050	13794050	C	A	DNAH5	c.8005G>T	NM_001369.3	NP_001360.1:p.(Asp2669Tyr)	NC_000005.9:g.13794050C>A	VUS	1 lab	8a49dd0867
5:112155042 APC G>C	5	112155042	112155042	G	C	APC	c.1312+1G>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155042G>C	(Likely) pathogenic	1 lab	8a4f87b04d
22:32239782 DEPDC5 G>A	22	32239782	32239782	G	A	DEPDC5	c.2785G>A	NM_001242896.3	NP_001229825.1:p.(Gly929Ser)	NC_000022.10:g.32239782G>A	VUS	1 lab	8a4f931f86
7:70229770 AUTS2 A>G	7	70229770	70229770	A	G	AUTS2	c.1247A>G	NM_015570.4	NP_056385.1:p.(Gln416Arg)	NC_000007.13:g.70229770A>G	(Likely) benign	1 lab	8a4fa7dfed
13:101748009 NALCN C>T	13	101748009	101748009	C	T	NALCN	c.3185G>A	NM_052867.4	NP_443099.1:p.(Arg1062Lys)	NC_000013.10:g.101748009C>T	VUS	1 lab	8a4fdf108b
X:144906075 SLITRK2 A>G	X	144906075	144906075	A	G	SLITRK2	c.2132A>G	NM_032539.5	NP_115928.1:p.(Tyr711Cys)	NC_000023.10:g.144906075A>G	VUS	1 lab	8a510747ba
5:150515817 ANXA6 C>G	5	150515817	150515817	C	G	ANXA6	c.489G>C	NM_001155.5	NP_001146.2:p.(Gln163His)	NC_000005.9:g.150515817C>G	VUS	1 lab	8a51ab5dd9
5:45396488 HCN1 CTT>C	5	45396488	45396500	CTT	C	HCN1	c.1230+104_1230+105del	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45396499_45396500del	(Likely) benign	1 lab	3331a9704b
X:69282774 OTUD6A G>A	X	69282774	69282774	G	A	OTUD6A	c.400G>A	NM_207320.3	NP_997203.1:p.(Ala134Thr)	NC_000023.10:g.69282774G>A	(Likely) benign	1 lab	8a53b6f3cf
11:3723942 NUP98 G>A	11	3723942	3723942	G	A	NUP98	c.3263C>T	NM_016320.5	NP_057404.2:p.(Pro1088Leu)	NC_000011.9:g.3723942G>A	(Likely) benign	1 lab	8a55a57e52
2:50692669 NRXN1 C>A	2	50692669	50692669	C	A	NRXN1	c.3275G>T	NM_001330078.2	NP_001317007.1:p.(Cys1092Phe)	NC_000002.11:g.50692669C>A	VUS	1 lab	8a5623b7dd
12:102179844 GNPTAB G>GT	12	102179844	102179848	G	GT	GNPTAB	c.516dup	NM_024312.5	NP_077288.2:p.(Pro173ThrfsTer14)	NC_000012.11:g.102179848dup	VUS	1 lab	8a56ba859f
15:84908609 GOLGA6L4 A>T	15	84908609	84908609	A	T	GOLGA6L4	c.503A>T	NM_001267536.3	NP_001254465.2:p.(His168Leu)	NC_000015.9:g.84908609A>T	(Likely) benign	1 lab	8a56d30923
12:133160206 FBRSL1 G>A	12	133160206	133160206	G	A	FBRSL1	c.2851G>A	NM_001367871.1	NP_001354800.1:p.(Ala951Thr)	NC_000012.11:g.133160206G>A	(Likely) benign	1 lab	8a5865d9e9
16:51175754 SALL1 C>G	16	51175754	51175754	C	G	SALL1	c.379G>C	NM_002968.3	NP_002959.2:p.(Val127Leu)	NC_000016.9:g.51175754C>G	(Likely) benign	1 lab	8a5b05baae
16:2139999 PKD1 C>T	16	2139999	2139999	C	T	PKD1	c.12641G>A	NM_001009944.3	NP_001009944.3:p.(Arg4214His)	NC_000016.9:g.2139999C>T	VUS	1 lab	8a5c05aa70
1:226055608 TMEM63A T>C	1	226055608	226055608	T	C	TMEM63A	c.494A>G	NM_014698.3	NP_055513.2:p.(Asn165Ser)	NC_000001.10:g.226055608T>C	VUS	1 lab	8a5c16a87e
1:16059198 PLEKHM2 A>C	1	16059198	16059198	A	C	PLEKHM2	c.2897A>C	NM_015164.4	NP_055979.2:p.(Asn966Thr)	NC_000001.10:g.16059198A>C	(Likely) benign	1 lab	8a5c45f01d
7:40133791 CDK13 C>T	7	40133791	40133791	C	T	CDK13	c.3751C>T	NM_003718.5	NP_003709.3:p.(Arg1251Trp)	NC_000007.13:g.40133791C>T	(Likely) benign	1 lab	8a5e029e87
5:149434914 CSF1R A>G	5	149434914	149434914	A	G	CSF1R	c.2555-15T>C	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149434914A>G	(Likely) benign	1 lab	8a5faf197b
3:186257202 CRYGS T>G	3	186257202	186257202	T	G	CRYGS	c.206A>C	NM_017541.4	NP_060011.1:p.(Glu69Ala)	NC_000003.11:g.186257202T>G	(Likely) benign	1 lab	8a6390c9e8
1:152282461 FLG C>G	1	152282461	152282461	C	G	FLG	c.4901G>C	NM_002016.2	NP_002007.1:p.(Arg1634Thr)	NC_000001.10:g.152282461C>G	(Likely) benign	1 lab	8a63a91144
7:48626771 ABCA13 C>T	7	48626771	48626771	C	T	ABCA13	c.14527C>T	NM_152701.5	NP_689914.3:p.(Arg4843Cys)	NC_000007.13:g.48626771C>T	(Likely) benign	1 lab	8a6613a27d
1:27090106 ARID1A C>G	1	27090106	27090106	C	G	ARID1A	c.2732+330C>G	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27090106C>G	(Likely) benign	1 lab	8a66a7e644
8:30694577 TEX15 C>T	8	30694577	30694577	C	T	TEX15	c.9223G>A	NM_001350162.2	NP_001337091.1:p.(Gly3075Arg)	NC_000008.10:g.30694577C>T	VUS	1 lab	2528bc23d3
14:92439129 TRIP11 T>C	14	92439129	92439129	T	C	TRIP11	c.5651A>G	NM_004239.4	NP_004230.2:p.(His1884Arg)	NC_000014.8:g.92439129T>C	(Likely) benign	1 lab	8a67b10ff9
5:176638755 NSD1 C>A	5	176638755	176638755	C	A	NSD1	c.3355C>A	NM_022455.5	NP_071900.2:p.(Pro1119Thr)	NC_000005.9:g.176638755C>A	(Likely) benign	1 lab	8a6a417b8d
9:2029183 SMARCA2 C>T	9	2029183	2029183	C	T	SMARCA2	c.161C>T	NM_003070.5	NP_003061.3:p.(Ser54Phe)	NC_000009.11:g.2029183C>T	VUS	1 lab	8b7a6d1f75
7:75616897 TMEM120A G>A	7	75616897	75616897	G	A	TMEM120A	c.808C>T	NM_031925.3	NP_114131.1:p.(Arg270Trp)	NC_000007.13:g.75616897G>A	VUS	1 lab	8a6ae67a5b
X:35984761 CFAP47 CAGA>C	X	35984761	35984770	CAGA	C	CFAP47	c.1497_1499del	NM_001304548.2	NP_001291477.1:p.(Glu499del)	NC_000023.10:g.35984768_35984770del	VUS	1 lab	8a6cd4e001
9:35077020 FANCG C>CGT	9	35077020	35077023	C	CGT	FANCG	c.723_724dup	NM_004629.2	NP_004620.1:p.(Arg242HisfsTer33)	NC_000009.11:g.35077022_35077023dup	VUS	1 lab	8a6e2d8dcb
19:45901279 PPP1R13L G>C	19	45901279	45901279	G	C	PPP1R13L	c.182C>G	NM_006663.4	NP_006654.2:p.(Ala61Gly)	NC_000019.9:g.45901279G>C	(Likely) benign	1 lab	8a6fdeb6ea
7:94055751 COL1A2 G>A	7	94055751	94055751	G	A	COL1A2	c.3014G>A	NM_000089.4	NP_000080.2:p.(Arg1005His)	NC_000007.13:g.94055751G>A	VUS	1 lab	8a70cf757d
22:36696273 MYH9 C>A	22	36696273	36696273	C	A	MYH9	c.2876G>T	NM_002473.6	NP_002464.1:p.(Arg959Leu)	NC_000022.10:g.36696273C>A	VUS	1 lab	8a712f2910
X:152037380 NSDHL G>A	X	152037380	152037380	G	A	NSDHL	c.842G>A	NM_015922.3	NP_057006.1:p.(Arg281His)	NC_000023.10:g.152037380G>A	VUS	1 lab	8a71785b2d
16:3297071 MEFV G>A	16	3297071	3297071	G	A	MEFV	c.1532C>T	NM_000243.2	NP_000234.1:p.(Ala511Val)	NC_000016.9:g.3297071G>A	VUS	1 lab	33386ec2a8
X:3241943 MXRA5 C>T	X	3241943	3241943	C	T	MXRA5	c.1783G>A	NM_015419.4	NP_056234.2:p.(Val595Met)	NC_000023.10:g.3241943C>T	VUS	1 lab	8a77b8b031
3:123452702 MYLK T>C	3	123452702	123452702	T	C	MYLK	c.1141A>G	NM_053025.4	NP_444253.3:p.(Thr381Ala)	NC_000003.11:g.123452702T>C	VUS	1 lab	8a79b93dcf
11:674588 DEAF1 C>A	11	674588	674588	C	A	DEAF1	c.1451G>T	NM_021008.4	NP_066288.2:p.(Arg484Leu)	NC_000011.9:g.674588C>A	VUS	1 lab	8b8f18b775
9:140710501 EHMT1 C>T	9	140710501	140710501	C	T	EHMT1	c.3361C>T	NM_024757.5	NP_079033.4:p.(Gln1121Ter)	NC_000009.11:g.140710501C>T	(Likely) pathogenic	1 lab	8a7a8c4c4a
17:78188838 SGSH G>A	17	78188838	78188838	G	A	SGSH	c.349C>T	NM_000199.5	NP_000190.1:p.(Arg117Cys)	NC_000017.10:g.78188838G>A	VUS	1 lab	8a7b9127fb
7:107204415 DUS4L C>CGG	7	107204415	107204417	C	CGG	DUS4L	c.-349_-348insGG	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204416_107204417insGG	(Likely) benign	1 lab	8a7c240652
16:88800812 PIEZO1 A>T	16	88800812	88800812	A	T	PIEZO1	c.2132T>A	NM_001142864.4	NP_001136336.2:p.(Met711Lys)	NC_000016.9:g.88800812A>T	(Likely) benign	1 lab	8a7dbeccb8
19:1037808 CNN2 CCG>C	19	1037808	1037810	CCG	C	CNN2	c.840_841del	NM_004368.4	NP_004359.1:p.(Asp281TrpfsTer17)	NC_000019.9:g.1037809_1037810del	VUS	1 lab	8a7f97e724
7:100282065 GIGYF1 C>A	7	100282065	100282065	C	A	GIGYF1	c.1629+8G>T	NM_001375765.1	NP_001362694.1:p.?	NC_000007.13:g.100282065C>A	(Likely) benign	1 lab	8a80af270c
10:77159841 ZNF503 C>G	10	77159841	77159841	C	G	ZNF503	c.607G>C	NM_032772.6	NP_116161.2:p.(Gly203Arg)	NC_000010.10:g.77159841C>G	(Likely) benign	1 lab	8a80b4d707
12:49425776 KMT2D G>A	12	49425776	49425776	G	A	KMT2D	c.12712C>T	NM_003482.4	NP_003473.3:p.(Arg4238Cys)	NC_000012.11:g.49425776G>A	(Likely) benign	1 lab	8a81103d6e
14:31602711 HECTD1 T>C	14	31602711	31602711	T	C	HECTD1	c.3745+4A>G	NM_015382.4	NP_056197.3:p.?	NC_000014.8:g.31602711T>C	VUS	1 lab	8a81b742f8
1:27056154 ARID1A A>G	1	27056154	27056154	A	G	ARID1A	c.1150A>G	NM_006015.6	NP_006006.3:p.(Met384Val)	NC_000001.10:g.27056154A>G	(Likely) benign	1 lab	8a8241ccc1
20:43042334 HNF4A C>A	20	43042334	43042334	C	A	HNF4A	c.386C>A	NM_000457.5	NP_000448.3:p.(Ala129Asp)	NC_000020.10:g.43042334C>A	(Likely) pathogenic	1 lab	8a82ad9c5a
6:15496724 JARID2 G>C	6	15496724	15496724	G	C	JARID2	c.1268G>C	NM_004973.4	NP_004964.2:p.(Gly423Ala)	NC_000006.11:g.15496724G>C	(Likely) benign	1 lab	8a83858c55
14:102467585 DYNC1H1 C>T	14	102467585	102467585	C	T	DYNC1H1	c.4289C>T	NM_001376.5	NP_001367.2:p.(Thr1430Ile)	NC_000014.8:g.102467585C>T	VUS	1 lab	8a8460964c
4:84518064 GPAT3 A>C	4	84518064	84518064	A	C	GPAT3	c.908A>C	NM_032717.5	NP_116106.2:p.(Glu303Ala)	NC_000004.11:g.84518064A>C	VUS	1 lab	8b8fe79fe6
3:184070789 CLCN2 A>AG	3	184070789	184070791	A	AG	CLCN2	c.2143+31dup	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070791dup	(Likely) benign	1 lab	8a84931979
3:157131751 VEPH1 C>T	3	157131751	157131751	C	T	VEPH1	c.825G>A	NM_001167912.2	NP_001161384.1:p.(Met275Ile)	NC_000003.11:g.157131751C>T	(Likely) benign	1 lab	8a86487bcf
16:1823820 EME2 G>T	16	1823820	1823820	G	T	EME2	c.362G>T	NM_001257370.2	NP_001244299.1:p.(Ser121Ile)	NC_000016.9:g.1823820G>T	(Likely) benign	1 lab	8a88a1a7eb
X:48650871 GATA1 G>A	X	48650871	48650871	G	A	GATA1	c.740G>A	NM_002049.4	NP_002040.1:p.(Arg247His)	NC_000023.10:g.48650871G>A	(Likely) benign	1 lab	8a9a86016f
X:19364747 PDHA1 G>A	X	19364747	19364747	G	A	PDHA1	c.57+2535G>A	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19364747G>A	(Likely) benign	1 lab	8a8ba55b2e
14:25288326 STXBP6 G>A	14	25288326	25288326	G	A	STXBP6	c.526C>T	NM_001394410.1	NP_001381339.1:p.(Arg176Cys)	NC_000014.8:g.25288326G>A	VUS	1 lab	8a90355da8
3:58117722 FLNB C>T	3	58117722	58117722	C	T	FLNB	c.4391-813C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58117722C>T	(Likely) benign	1 lab	8a907df6f7
20:60885102 LAMA5 G>A	20	60885102	60885102	G	A	LAMA5	c.10770C>T	NM_005560.4	NP_005551.3:p.(Phe3590=)	NC_000020.10:g.60885102G>A	(Likely) benign	1 lab	26a77f88b6
5:224487 SDHA T>C	5	224487	224487	T	C	SDHA	c.163T>C	NM_004168.4	NP_004159.2:p.(Tyr55His)	NC_000005.9:g.224487T>C	VUS	1 lab	8a9152ace7
13:53035478 CKAP2 C>G	13	53035478	53035478	C	G	CKAP2	c.517C>G	NM_018204.5	NP_060674.3:p.(Pro173Ala)	NC_000013.10:g.53035478C>G	VUS	1 lab	8a91fa9af0
11:76913387 MYO7A C>T	11	76913387	76913387	C	T	MYO7A	c.5086C>T	NM_000260.4	NP_000251.3:p.(Arg1696Trp)	NC_000011.9:g.76913387C>T	VUS	1 lab	8a92bedf80
3:172162979 GHSR G>A	3	172162979	172162979	G	A	GHSR	c.1073C>T	NM_198407.2	NP_940799.1:p.(Ala358Val)	NC_000003.11:g.172162979G>A	(Likely) benign	1 lab	8a93f685af
7:1518422 INTS1 G>C	7	1518422	1518422	G	C	INTS1	c.4429C>G	NM_001080453.3	NP_001073922.2:p.(Leu1477Val)	NC_000007.13:g.1518422G>C	VUS	1 lab	8a94a70133
1:146714374 CHD1L T>C	1	146714374	146714374	T	C	CHD1L	c.21T>C	NM_004284.6	NP_004275.4:p.(Thr7=)	NC_000001.10:g.146714374T>C	(Likely) benign	1 lab	8a95ca3dec
19:4054825 ZBTB7A C>T	19	4054825	4054825	C	T	ZBTB7A	c.406G>A	NM_015898.4	NP_056982.1:p.(Ala136Thr)	NC_000019.9:g.4054825C>T	(Likely) benign	1 lab	8a95ffd2b8
4:6302484 WFS1 C>T	4	6302484	6302484	C	T	WFS1	c.962C>T	NM_006005.3	NP_005996.2:p.(Thr321Met)	NC_000004.11:g.6302484C>T	VUS	1 lab	8a96c03952
16:1825982 EME2 C>T	16	1825982	1825982	C	T	EME2	c.964C>T	NM_001257370.2	NP_001244299.1:p.(Gln322Ter)	NC_000016.9:g.1825982C>T	(Likely) benign	1 lab	8a9a3a5c85
20:34785925 EPB41L1 T>A	20	34785925	34785925	T	A	EPB41L1	c.1630T>A	NM_012156.2	NP_036288.2:p.(Ser544Thr)	NC_000020.10:g.34785925T>A	(Likely) benign	1 lab	8a9aa8b778
5:14369547 TRIO C>T	5	14369547	14369547	C	T	TRIO	c.3131C>T	NM_007118.4	NP_009049.2:p.(Ala1044Val)	NC_000005.9:g.14369547C>T	(Likely) benign	1 lab	8a9b3fcc51
4:148594171 PRMT9 CT>C	4	148594171	148594172	CT	C	PRMT9	c.681del	NM_138364.4	NP_612373.2:p.(Ile229SerfsTer11)	NC_000004.11:g.148594172del	VUS	1 lab	8a9b8d0e9f
11:103043925 DYNC2H1 A>G	11	103043925	103043925	A	G	DYNC2H1	c.5449A>G	NM_001377.3	NP_001368.2:p.(Met1817Val)	NC_000011.9:g.103043925A>G	(Likely) benign	1 lab	8a9c11748b
14:31549860 AP4S1 A>G	14	31549860	31549860	A	G	AP4S1	c.306+70A>G	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31549860A>G	VUS	1 lab	8a9c489726
2:179412550 TTN TTTG>T	2	179412550	179412560	TTTG	T	TTN	c.93800_93802del	NM_001267550.2	NP_001254479.2:p.(Thr31267del)	NC_000002.11:g.179412558_179412560del	VUS	1 lab	252cb0ae93
14:77909018 VIPAS39 C>T	14	77909018	77909018	C	T	VIPAS39	c.632-13G>A	NM_022067.4	NP_071350.2:p.?	NC_000014.8:g.77909018C>T	(Likely) benign	1 lab	26ab5e4fc9
12:51117100 DIP2B T>G	12	51117100	51117100	T	G	DIP2B	c.3282T>G	NM_173602.3	NP_775873.2:p.(Ile1094Met)	NC_000012.11:g.51117100T>G	(Likely) benign	1 lab	8a9e795d0c
2:152424578 NEB G>A	2	152424578	152424578	G	A	NEB	c.17844+7C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152424578G>A	(Likely) benign	1 lab	8aa0e63278
15:99250954 IGF1R G>A	15	99250954	99250954	G	A	IGF1R	c.258G>A	NM_000875.5	NP_000866.1:p.(Leu86=)	NC_000015.9:g.99250954G>A	(Likely) benign	1 lab	8aa13093ff
6:33419615 SYNGAP1 G>A	6	33419615	33419615	G	A	SYNGAP1	c.3964G>A	NM_006772.3	NP_006763.2:p.(Ala1322Thr)	NC_000006.11:g.33419615G>A	VUS	1 lab	8aa187b15e
18:3079170 MYOM1 T>C	18	3079170	3079170	T	C	MYOM1	c.4648+7A>G	NM_003803.4	NP_003794.3:p.?	NC_000018.9:g.3079170T>C	(Likely) benign	1 lab	8aa22f2283
1:152882332 IVL T>C	1	152882332	152882332	T	C	IVL	c.59T>C	NM_005547.4	NP_005538.2:p.(Leu20Pro)	NC_000001.10:g.152882332T>C	(Likely) benign	1 lab	8ab2c3d905
15:99434708 IGF1R G>T	15	99434708	99434708	G	T	IGF1R	c.795G>T	NM_000875.5	NP_000866.1:p.(Pro265=)	NC_000015.9:g.99434708G>T	(Likely) benign	1 lab	8aa4feb09b
7:44185251 GCK G>A	7	44185251	44185251	G	A	GCK	c.1098C>T	NM_000162.5	NP_000153.1:p.(Ile366=)	NC_000007.13:g.44185251G>A	(Likely) benign	1 lab	8aa532c6b3
2:219942790 NHEJ1 G>A	2	219942790	219942790	G	A	NHEJ1	c.706+21C>T	NM_024782.3	NP_079058.1:p.?	NC_000002.11:g.219942790G>A	(Likely) benign	1 lab	8aa5ae4605
6:15497063 JARID2 C>T	6	15497063	15497063	C	T	JARID2	c.1607C>T	NM_004973.4	NP_004964.2:p.(Pro536Leu)	NC_000006.11:g.15497063C>T	(Likely) benign	1 lab	8aa5be31de
4:5617239 EVC2 C>G	4	5617239	5617239	C	G	EVC2	c.2739G>C	NM_147127.5	NP_667338.3:p.(Lys913Asn)	NC_000004.11:g.5617239C>G	VUS	1 lab	8aa5ea0f99
11:17450223 ABCC8 C>T	11	17450223	17450223	C	T	ABCC8	c.1818-6G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17450223C>T	(Likely) benign	1 lab	8aa93dcf84
18:77496472 CTDP1 G>A	18	77496472	77496472	G	A	CTDP1	c.2698G>A	NM_004715.5	NP_004706.3:p.(Gly900Arg)	NC_000018.9:g.77496472G>A	VUS	1 lab	8aae12cbd5
19:55879592 IL11 G>A	19	55879592	55879592	G	A	IL11	c.415C>T	NM_000641.4	NP_000632.1:p.(Arg139Trp)	NC_000019.9:g.55879592G>A	(Likely) benign	1 lab	8aae8f1689
15:44066789 ELL3 C>T	15	44066789	44066789	C	T	ELL3	c.823+5G>A	NM_025165.3	NP_079441.1:p.?	NC_000015.9:g.44066789C>T	(Likely) benign	1 lab	8aae96abab
19:13428054 CACNA1A C>T	19	13428054	13428054	C	T	CACNA1A	c.1427G>A	NM_001127222.2	NP_001120694.1:p.(Arg476His)	NC_000019.9:g.13428054C>T	(Likely) benign	1 lab	8aaf2bf1bc
15:34028473 RYR3 C>T	15	34028473	34028473	C	T	RYR3	c.7462C>T	NM_001036.6	NP_001027.3:p.(Arg2488Cys)	NC_000015.9:g.34028473C>T	VUS	1 lab	8ab108fe85
X:30236980 MAGEB2 A>G	X	30236980	30236980	A	G	MAGEB2	c.283A>G	NM_002364.5	NP_002355.2:p.(Ser95Gly)	NC_000023.10:g.30236980A>G	(Likely) benign	1 lab	8ab1f29a5d
19:51191248 SHANK1 T>C	19	51191248	51191248	T	C	SHANK1	c.2240A>G	NM_016148.5	NP_057232.2:p.(Asn747Ser)	NC_000019.9:g.51191248T>C	VUS	1 lab	8ab2b64a09
1:1464700 ATAD3A G>A	1	1464700	1464700	G	A	ATAD3A	c.1603G>A	NM_001170535.3	NP_001164006.1:p.(Val535Met)	NC_000001.10:g.1464700G>A	VUS	1 lab	8ab3c608cb
17:78063947 CCDC40 AGAACAACACAGGACGCACACAGGCACGTGCAC>A	17	78063947	78063988	AGAACAACACAGGACGCACACAGGCACGTGCAC	A	CCDC40	c.2832+274_2832+305del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063957_78063988del	VUS	1 lab	8ab54adb47
2:170135892 LRP2 G>A	2	170135892	170135892	G	A	LRP2	c.1555C>T	NM_004525.3	NP_004516.2:p.(Pro519Ser)	NC_000002.11:g.170135892G>A	VUS	1 lab	8ab828f9c6
10:135106570 TUBGCP2 G>A	10	135106570	135106570	G	A	TUBGCP2	c.997C>T	NM_006659.4	NP_006650.1:p.(Arg333Cys)	NC_000010.10:g.135106570G>A	VUS	1 lab	8ab882d1e0
22:40060734 CACNA1I C>A	22	40060734	40060734	C	A	CACNA1I	c.3667-10C>A	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40060734C>A	(Likely) benign	1 lab	8abaeb3c98
1:226549660 PARP1 GA>G	1	226549660	226549663	GA	G	PARP1	c.2963+9del	NM_001618.4	NP_001609.2:p.?	NC_000001.10:g.226549663del	(Likely) benign	1 lab	8abc2eeab4
X:153780374 IKBKG C>A	X	153780374	153780374	C	A	IKBKG	c.157C>A	NM_001099857.5	NP_001093327.1:p.(Arg53Ser)	NC_000023.10:g.153780374C>A	VUS	1 lab	8abcba7dbf
X:17705864 NHS G>A	X	17705864	17705864	G	A	NHS	c.568G>A	NM_001291867.2	NP_001278796.1:p.(Val190Ile)	NC_000023.10:g.17705864G>A	VUS	1 lab	8abd330347
17:649340 GEMIN4 G>A	17	649340	649340	G	A	GEMIN4	c.1943C>T	NM_015721.3	NP_056536.2:p.(Pro648Leu)	NC_000017.10:g.649340G>A	VUS	1 lab	8ac0988977
15:51791978 DMXL2 T>C	15	51791978	51791978	T	C	DMXL2	c.3443A>G	NM_001378457.1	NP_001365386.1:p.(Tyr1148Cys)	NC_000015.9:g.51791978T>C	VUS	1 lab	8ac0cdcf1f
12:52680911 KRT86 G>A	12	52680911	52680911	G	A	KRT86	c.-5+11181G>A	NM_001320198.2	NP_001307127.1:p.?	NC_000012.11:g.52680911G>A	(Likely) benign	1 lab	8ac2993f4e
14:51237159 NIN T>A	14	51237159	51237159	T	A	NIN	c.1381A>T	NM_020921.4	NP_065972.4:p.(Lys461Ter)	NC_000014.8:g.51237159T>A	(Likely) pathogenic	1 lab	8ac36e2391
21:39087303 KCNJ6 T>C	21	39087303	39087303	T	C	KCNJ6	c.157A>G	NM_002240.5	NP_002231.1:p.(Ile53Val)	NC_000021.8:g.39087303T>C	(Likely) benign	1 lab	8ac3aea491
1:47882530 FOXE3 G>T	1	47882530	47882530	G	T	FOXE3	c.543G>T	NM_012186.3	NP_036318.1:p.(Gly181=)	NC_000001.10:g.47882530G>T	VUS	1 lab	26af1babf9
2:238449026 MLPH AGAG>A	2	238449026	238449036	AGAG	A	MLPH	c.1148_1150del	NM_024101.7	NP_077006.1:p.(Glu383del)	NC_000002.11:g.238449034_238449036del	VUS	1 lab	8ac4f3db9a
19:55087562 LILRA2 A>G	19	55087562	55087562	A	G	LILRA2	c.1241A>G	NM_001130917.3	NP_001124389.2:p.(Glu414Gly)	NC_000019.9:g.55087562A>G	(Likely) benign	1 lab	8ac7595507
15:45404804 DUOX2 G>A	15	45404804	45404804	G	A	DUOX2	c.273C>T	NM_001363711.2	NP_001350640.1:p.(Gly91=)	NC_000015.9:g.45404804G>A	VUS	1 lab	8ac9eb0557
3:38181994 MYD88 G>A	3	38181994	38181994	G	A	MYD88	c.579G>A	NM_002468.5	NP_002459.3:p.(Val193=)	NC_000003.11:g.38181994G>A	(Likely) benign	1 lab	8ac9ec20f7
11:71153368 DHCR7 C>T	11	71153368	71153368	C	T	DHCR7	c.353G>A	NM_001360.3	NP_001351.2:p.(Cys118Tyr)	NC_000011.9:g.71153368C>T	VUS	1 lab	8aca42a9fa
20:60885951 LAMA5 C>T	20	60885951	60885951	C	T	LAMA5	c.10281+7G>A	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60885951C>T	(Likely) benign	1 lab	8aca52a982
9:35809510 NPR2 C>G	9	35809510	35809510	C	G	NPR2	c.*68C>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809510C>G	(Likely) benign	1 lab	8acdbc8599
15:99467189 IGF1R A>G	15	99467189	99467189	A	G	IGF1R	c.2570A>G	NM_000875.5	NP_000866.1:p.(Asn857Ser)	NC_000015.9:g.99467189A>G	(Likely) benign	1 lab	8acdf86b4d
1:227172604 COQ8A C>T	1	227172604	227172604	C	T	COQ8A	c.1534C>T	NM_020247.5	NP_064632.2:p.(Arg512Trp)	NC_000001.10:g.227172604C>T	VUS	1 lab	8acecff230
4:77957940 SEPTIN11 C>T	4	77957940	77957940	C	T	SEPTIN11	c.*2275C>T	NM_018243.4	NP_060713.1:p.?	NC_000004.11:g.77957940C>T	(Likely) benign	1 lab	8acf64ab6d
7:128843278 SMO G>A	7	128843278	128843278	G	A	SMO	c.385G>A	NM_005631.5	NP_005622.1:p.(Val129Ile)	NC_000007.13:g.128843278G>A	VUS	1 lab	8acffa4ed3
17:78450010 NPTX1 G>C	17	78450010	78450010	G	C	NPTX1	c.237C>G	NM_002522.4	NP_002513.2:p.(Ile79Met)	NC_000017.10:g.78450010G>C	(Likely) benign	1 lab	8ad02750ff
8:10468963 RP1L1 C>T	8	10468963	10468963	C	T	RP1L1	c.2645G>A	NM_178857.6	NP_849188.4:p.(Arg882Gln)	NC_000008.10:g.10468963C>T	VUS	1 lab	8ad0305776
19:10432222 RAVER1 C>T	19	10432222	10432222	C	T	RAVER1	c.1246G>A	NM_133452.3	NP_597709.3:p.(Gly416Arg)	NC_000019.9:g.10432222C>T	(Likely) benign	1 lab	8ad3870140
11:17449470 ABCC8 G>C	11	17449470	17449470	G	C	ABCC8	c.2060C>G	NM_000352.6	NP_000343.2:p.(Thr687Arg)	NC_000011.9:g.17449470G>C	VUS	1 lab	8ad5779d16
13:110436376 IRS2 G>T	13	110436376	110436376	G	T	IRS2	c.2025C>A	NM_003749.3	NP_003740.2:p.(Tyr675Ter)	NC_000013.10:g.110436376G>T	VUS	1 lab	8ad64afc26
12:65634754 LEMD3 G>A	12	65634754	65634754	G	A	LEMD3	c.2192G>A	NM_014319.5	NP_055134.2:p.(Arg731His)	NC_000012.11:g.65634754G>A	(Likely) benign	1 lab	8ad66d0faa
12:48460752 SENP1 TGG>T	12	48460752	48460755	TGG	T	SENP1	c.996-6_996-5del	NM_001267594.2	NP_001254523.1:p.?	NC_000012.11:g.48460754_48460755del	(Likely) benign	1 lab	8ad67b54bf
1:155491006 ASH1L T>G	1	155491006	155491006	T	G	ASH1L	c.305A>C	NM_018489.3	NP_060959.2:p.(Asn102Thr)	NC_000001.10:g.155491006T>G	(Likely) benign	1 lab	8ad6eaad54
1:1737909 GNB1 C>CCTA	1	1737909	1737913	C	CCTA	GNB1	c.267+2_267+4dup	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1737911_1737913dup	VUS	1 lab	8ae7f1e09c
15:32890358 GOLGA8N GAGA>G	15	32890358	32890369	GAGA	G	GOLGA8N	c.580_582del	NM_001282494.2	NP_001269423.1:p.(Lys194del)	NC_000015.9:g.32890367_32890369del	(Likely) benign	1 lab	8ad70e9ba0
8:9634229 TNKS G>A	8	9634229	9634229	G	A	TNKS	c.3967G>A	NM_003747.3	NP_003738.2:p.(Ala1323Thr)	NC_000008.10:g.9634229G>A	(Likely) benign	1 lab	8ad7cfbcb1
13:20657125 ZMYM2 C>T	13	20657125	20657125	C	T	ZMYM2	c.3773C>T	NM_003453.6	NP_003444.1:p.(Ala1258Val)	NC_000013.10:g.20657125C>T	(Likely) benign	1 lab	2531d0a494
2:48033514 MSH6 T>C	2	48033514	48033514	T	C	MSH6	c.3801+17T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033514T>C	(Likely) benign	1 lab	8ad86af9c2
19:12921167 RNASEH2A G>A	19	12921167	12921167	G	A	RNASEH2A	c.586G>A	NM_006397.3	NP_006388.2:p.(Val196Met)	NC_000019.9:g.12921167G>A	VUS	1 lab	8ad9f40c2d
1:3644212 TP73 G>A	1	3644212	3644212	G	A	TP73	c.863G>A	NM_005427.4	NP_005418.1:p.(Arg288Gln)	NC_000001.10:g.3644212G>A	VUS	1 lab	8adaa00f09
11:640157 DRD4 C>A	11	640157	640157	C	A	DRD4	c.908C>A	NM_000797.4	NP_000788.2:p.(Pro303Gln)	NC_000011.9:g.640157C>A	VUS	1 lab	8b8807f153
15:40856965 CCDC32 A>G	15	40856965	40856965	A	G	CCDC32	c.-13+210T>C	NM_001080792.4	NP_001074261.1:p.?	NC_000015.9:g.40856965A>G	(Likely) benign	1 lab	8ae17da53a
1:147580876 NBPF11 A>C	1	147580876	147580876	A	C	NBPF11	c.1917T>G	NM_001385469.3	NP_001372398.2:p.(Cys639Trp)	NC_000001.10:g.147580876A>C	(Likely) benign	1 lab	8ae42c2f45
1:47406928 CYP4A11 A>G	1	47406928	47406928	A	G	CYP4A11	c.178T>C	NM_000778.4	NP_000769.2:p.(Phe60Leu)	NC_000001.10:g.47406928A>G	(Likely) benign	1 lab	8ae43fe74f
13:32914685 BRCA2 C>T	13	32914685	32914685	C	T	BRCA2	c.6193C>T	NM_000059.4	NP_000050.3:p.(Gln2065Ter)	NC_000013.10:g.32914685C>T	(Likely) pathogenic	1 lab	8ae4562436
3:71485018 FOXP1 C>A	3	71485018	71485018	C	A	FOXP1	c.-168+57559G>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71485018C>A	(Likely) benign	1 lab	8ae456644c
4:158224951 GRIA2 A>G	4	158224951	158224951	A	G	GRIA2	c.469+8A>G	NM_001083619.1	NP_001077088.1:p.?	NC_000004.11:g.158224951A>G	(Likely) benign	1 lab	26b0b06193
1:240371019 FMN2 TCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCA>T	1	240371019	240371129	TCTTCCCGGAGCAGGAATACCTCCTCCACCCCCTCTACCCGGAGCGGGCATACCCCCTCCTCCCCCACTTCCCGGAGCGGGCATACCCCCTCCGCCCCCA	T	FMN2	c.2919_3017del	NM_020066.5	NP_064450.3:p.(Ala1072_Gly1104del)	NC_000001.10:g.240371031_240371129del	(Likely) benign	1 lab	8ae54148bd
10:71662507 COL13A1 G>A	10	71662507	71662507	G	A	COL13A1	c.754G>A	NM_001368882.1	NP_001355811.1:p.(Glu252Lys)	NC_000010.10:g.71662507G>A	(Likely) benign	1 lab	8ae66e78ce
19:52709278 PPP2R1A A>C	19	52709278	52709278	A	C	PPP2R1A	c.232A>C	NM_014225.6	NP_055040.2:p.(Thr78Pro)	NC_000019.9:g.52709278A>C	(Likely) benign	1 lab	8aec296a08
15:59455376 MYO1E T>C	15	59455376	59455376	T	C	MYO1E	c.2607A>G	NM_004998.3	NP_004989.2:p.(Leu869=)	NC_000015.9:g.59455376T>C	(Likely) benign	1 lab	26b1ae55dd
22:50904917 SBF1 G>A	22	50904917	50904917	G	A	SBF1	c.656-6C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50904917G>A	(Likely) benign	1 lab	8aedcfd336
16:3843581 CREBBP G>A	16	3843581	3843581	G	A	CREBBP	c.1022C>T	NM_004380.3	NP_004371.2:p.(Ala341Val)	NC_000016.9:g.3843581G>A	(Likely) benign	1 lab	8aee7eefc5
3:49718548 APEH G>T	3	49718548	49718548	G	T	APEH	c.1314G>T	NM_001640.4	NP_001631.3:p.(Leu438=)	NC_000003.11:g.49718548G>T	VUS	1 lab	8aef96a112
2:170042532 LRP2 G>A	2	170042532	170042532	G	A	LRP2	c.9329-3C>T	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170042532G>A	(Likely) benign	1 lab	8af0227eb1
13:51530599 RNASEH2B G>A	13	51530599	51530599	G	A	RNASEH2B	c.928G>A	NM_024570.3	NP_078846.2:p.(Gly310Arg)	NC_000013.10:g.51530599G>A	(Likely) benign	1 lab	26b2f1000f
6:163956165 QKI A>G	6	163956165	163956165	A	G	QKI	c.546+8A>G	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163956165A>G	(Likely) benign	1 lab	8af324f7c0
11:121174106 SC5D G>A	11	121174106	121174106	G	A	SC5D	c.22G>A	NM_006918.5	NP_008849.2:p.(Ala8Thr)	NC_000011.9:g.121174106G>A	VUS	1 lab	8af4653cab
19:1460192 APC2 C>A	19	1460192	1460192	C	A	APC2	c.1316C>A	NM_005883.3	NP_005874.1:p.(Ala439Asp)	NC_000019.9:g.1460192C>A	VUS	1 lab	8af5c04f9c
18:28923439 DSG1 G>A	18	28923439	28923439	G	A	DSG1	c.1714G>A	NM_001942.4	NP_001933.2:p.(Asp572Asn)	NC_000018.9:g.28923439G>A	VUS	1 lab	8af75ea9e3
2:97853066 ANKRD36 G>A	2	97853066	97853066	G	A	ANKRD36	c.2071G>A	NM_001354587.1	NP_001341516.1:p.(Ala691Thr)	NC_000002.11:g.97853066G>A	VUS	1 lab	8af7ef3717
8:145738970 RECQL4 C>G	8	145738970	145738970	C	G	RECQL4	c.2185G>C	NM_004260.4	NP_004251.4:p.(Val729Leu)	NC_000008.10:g.145738970C>G	(Likely) benign	1 lab	8af81997d2
X:36329006 CFAP47 C>T	X	36329006	36329006	C	T	CFAP47	c.8246C>T	NM_001304548.2	NP_001291477.1:p.(Thr2749Met)	NC_000023.10:g.36329006C>T	VUS	1 lab	8af8b589d6
17:40039400 ACLY G>A	17	40039400	40039400	G	A	ACLY	c.2240C>T	NM_001096.3	NP_001087.2:p.(Thr747Met)	NC_000017.10:g.40039400G>A	VUS	1 lab	8afc8b3738
11:72005479 CLPB G>A	11	72005479	72005479	G	A	CLPB	c.1570C>T	NM_001258392.3	NP_001245321.1:p.(Arg524Trp)	NC_000011.9:g.72005479G>A	VUS	1 lab	8afcf6c6cd
12:23833259 SOX5 C>CA	12	23833259	23833281	C	CA	SOX5	c.811-14762dup	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.23833281dup	(Likely) benign	1 lab	8afdb5482f
14:105821439 PACS2 G>A	14	105821439	105821439	G	A	PACS2	c.348G>A	NM_001100913.3	NP_001094383.2:p.(Gln116=)	NC_000014.8:g.105821439G>A	(Likely) benign	1 lab	26b33887ac
19:41889499 TMEM91 G>A	19	41889499	41889499	G	A	TMEM91	c.361-121G>A	NM_001098821.2	NP_001092291.1:p.?	NC_000019.9:g.41889499G>A	(Likely) benign	1 lab	8b00b537ca
19:625254 POLRMT C>T	19	625254	625254	C	T	POLRMT	c.823G>A	NM_005035.4	NP_005026.3:p.(Gly275Ser)	NC_000019.9:g.625254C>T	VUS	1 lab	8b02542e1a
20:35882715 GHRH C>T	20	35882715	35882715	C	T	GHRH	c.206G>A	NM_021081.6	NP_066567.1:p.(Arg69Gln)	NC_000020.10:g.35882715C>T	(Likely) benign	1 lab	8b025c52dd
12:132428106 PUS1 GT>G	12	132428106	132428107	GT	G	PUS1	c.1260del	NM_025215.6	NP_079491.2:p.(Ser420ArgfsTer126)	NC_000012.11:g.132428107del	(Likely) pathogenic	1 lab	8b04b073e3
7:127255483 PAX4 C>T	7	127255483	127255483	C	T	PAX4	c.116G>A	NM_001366110.1	NP_001353039.1:p.(Arg39Gln)	NC_000007.13:g.127255483C>T	(Likely) pathogenic	1 lab	8b0513b3ec
1:1275686 DVL1 AAGG>A	1	1275686	1275695	AAGG	A	DVL1	c.707_709del	NM_001330311.2	NP_001317240.1:p.(Ser236del)	NC_000001.10:g.1275693_1275695del	(Likely) benign	1 lab	8b051daab9
16:30715640 SRCAP C>T	16	30715640	30715640	C	T	SRCAP	c.306+4C>T	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30715640C>T	(Likely) benign	1 lab	8b05c2f6d4
8:29046043 KIF13B T>C	8	29046043	29046043	T	C	KIF13B	c.305A>G	NM_015254.4	NP_056069.2:p.(Tyr102Cys)	NC_000008.10:g.29046043T>C	VUS	1 lab	8b06655ea8
16:69681508 NFAT5 T>A	16	69681508	69681508	T	A	NFAT5	c.530+19T>A	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69681508T>A	(Likely) benign	1 lab	26b48ccb55
7:40127723 CDK13 A>T	7	40127723	40127723	A	T	CDK13	c.3030-2A>T	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40127723A>T	(Likely) benign	1 lab	8b07d365a3
13:33635162 KL G>A	13	33635162	33635162	G	A	KL	c.1946G>A	NM_004795.4	NP_004786.2:p.(Arg649His)	NC_000013.10:g.33635162G>A	(Likely) benign	1 lab	8b099231a8
17:7406608 POLR2A C>T	17	7406608	7406608	C	T	POLR2A	c.2925C>T	NM_000937.5	NP_000928.1:p.(Ser975=)	NC_000017.10:g.7406608C>T	(Likely) benign	1 lab	8b09b45ec4
12:25378562 KRAS C>T	12	25378562	25378562	C	T	KRAS	c.436G>A	NM_033360.4	NP_203524.1:p.(Ala146Thr)	NC_000012.11:g.25378562C>T	(Likely) pathogenic	1 lab	26b6ea50d9
5:37183243 CPLANE1 T>A	5	37183243	37183243	T	A	CPLANE1	c.5040A>T	NM_001384732.1	NP_001371661.1:p.(Leu1680Phe)	NC_000005.9:g.37183243T>A	(Likely) benign	1 lab	8b0b5075af
2:179418241 TTN T>C	2	179418241	179418241	T	C	TTN	c.89491A>G	NM_001267550.2	NP_001254479.2:p.(Lys29831Glu)	NC_000002.11:g.179418241T>C	VUS	1 lab	2535de1417
4:187088257 FAM149A T>G	4	187088257	187088257	T	G	FAM149A	c.2166+7T>G	NM_001395294.1	NP_001382223.1:p.?	NC_000004.11:g.187088257T>G	(Likely) benign	1 lab	8b0da2544a
20:47626782 ARFGEF2 C>T	20	47626782	47626782	C	T	ARFGEF2	c.3598C>T	NM_006420.3	NP_006411.2:p.(Arg1200Trp)	NC_000020.10:g.47626782C>T	VUS	1 lab	8b0dab8b9b
20:33077618 ITCH T>A	20	33077618	33077618	T	A	ITCH				NC_000020.10:g.33077618T>A	(Likely) benign	1 lab	26c0880011
10:50954789 OGDHL T>C	10	50954789	50954789	T	C	OGDHL	c.1296+7A>G	NM_018245.3	NP_060715.2:p.?	NC_000010.10:g.50954789T>C	(Likely) benign	1 lab	8b0e54df43
11:47369981 MYBPC3 C>T	11	47369981	47369981	C	T	MYBPC3	c.766G>A	NM_000256.3	NP_000247.2:p.(Val256Ile)	NC_000011.9:g.47369981C>T	VUS	1 lab	8b0eea95db
6:110146343 FIG4 A>G	6	110146343	110146343	A	G	FIG4	c.2599A>G	NM_014845.6	NP_055660.1:p.(Arg867Gly)	NC_000006.11:g.110146343A>G	(Likely) benign	1 lab	8b0f2bd376
8:38103252 DDHD2 T>A	8	38103252	38103252	T	A	DDHD2	c.849-8T>A	NM_015214.3	NP_056029.2:p.?	NC_000008.10:g.38103252T>A	(Likely) benign	1 lab	8b0ffcdc4d
1:209805972 LAMB3 C>T	1	209805972	209805972	C	T	LAMB3	c.778G>A	NM_001017402.2	NP_001017402.1:p.(Ala260Thr)	NC_000001.10:g.209805972C>T	(Likely) benign	1 lab	2536b424a7
2:239168619 PER2 A>AT	2	239168619	239168625	A	AT	PER2	c.1617dup	NM_022817.3	NP_073728.1:p.(Ser540IlefsTer8)	NC_000002.11:g.239168625dup	VUS	1 lab	8b15b20835
17:1578567 PRPF8 C>T	17	1578567	1578567	C	T	PRPF8	c.2939G>A	NM_006445.4	NP_006436.3:p.(Arg980His)	NC_000017.10:g.1578567C>T	VUS	1 lab	8b160f96e0
X:47918722 ZNF630 G>A	X	47918722	47918722	G	A	ZNF630	c.1109C>T	NM_001282201.2	NP_001269130.1:p.(Thr370Ile)	NC_000023.10:g.47918722G>A	VUS	1 lab	8b17bc4b5c
12:42854348 PRICKLE1 T>C	12	42854348	42854348	T	C	PRICKLE1	c.1759A>G	NM_153026.3	NP_694571.2:p.(Met587Val)	NC_000012.11:g.42854348T>C	(Likely) benign	1 lab	8b187be7be
16:3633195 SLX4 C>T	16	3633195	3633195	C	T	SLX4	c.5056G>A	NM_032444.4	NP_115820.2:p.(Ala1686Thr)	NC_000016.9:g.3633195C>T	(Likely) benign	1 lab	8b1908f8fd
3:160149560 SMC4 C>T	3	160149560	160149560	C	T	SMC4	c.3244C>T	NM_001002800.3	NP_001002800.1:p.(Arg1082Trp)	NC_000003.11:g.160149560C>T	VUS	1 lab	8b1acb3a48
6:161155085 PLG G>T	6	161155085	161155085	G	T	PLG	c.1646G>T	NM_000301.5	NP_000292.1:p.(Arg549Ile)	NC_000006.11:g.161155085G>T	VUS	1 lab	8b1c4dbd54
1:173795803 DARS2 CT>C	1	173795803	173795820	CT	C	DARS2	c.128-5del	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173795820del	(Likely) benign	1 lab	8b1c5194bb
16:30005761 HIRIP3 C>G	16	30005761	30005761	C	G	HIRIP3	c.705G>C	NM_003609.5	NP_003600.2:p.(Lys235Asn)	NC_000016.9:g.30005761C>G	(Likely) benign	1 lab	8b1d46aa11
12:52867059 KRT6C C>T	12	52867059	52867059	C	T	KRT6C	c.463G>A	NM_173086.5	NP_775109.2:p.(Ala155Thr)	NC_000012.11:g.52867059C>T	(Likely) benign	1 lab	253a89a4f0
14:50623760 SOS2 G>T	14	50623760	50623760	G	T	SOS2	c.2014C>A	NM_006939.4	NP_008870.2:p.(Leu672Ile)	NC_000014.8:g.50623760G>T	(Likely) benign	1 lab	8b1e807cf1
6:70991095 COL9A1 C>G	6	70991095	70991095	C	G	COL9A1	c.874G>C	NM_001851.6	NP_001842.3:p.(Asp292His)	NC_000006.11:g.70991095C>G	VUS	1 lab	8b207d9be9
19:17086023 CPAMD8 C>T	19	17086023	17086023	C	T	CPAMD8	c.1954G>A	NM_015692.5	NP_056507.3:p.(Val652Met)	NC_000019.9:g.17086023C>T	(Likely) benign	1 lab	8b2175fd65
22:25023893 GGT1 G>A	22	25023893	25023893	G	A	GGT1	c.1283G>A	NM_001288833.2	NP_001275762.1:p.(Ser428Asn)	NC_000022.10:g.25023893G>A	(Likely) benign	1 lab	8b2238bcb0
21:46901893 COL18A1 C>T	21	46901893	46901893	C	T	COL18A1	c.1628C>T	NM_001379500.1	NP_001366429.1:p.(Pro543Leu)	NC_000021.8:g.46901893C>T	VUS	1 lab	8b232f47c7
20:30408301 MYLK2 G>T	20	30408301	30408301	G	T	MYLK2	c.425G>T	NM_033118.3	NP_149109.1:p.(Gly142Val)	NC_000020.10:g.30408301G>T	(Likely) benign	1 lab	26c4fddc6b
1:3740136 CEP104 G>A	1	3740136	3740136	G	A	CEP104	c.2365-10C>T	NM_014704.4	NP_055519.1:p.?	NC_000001.10:g.3740136G>A	(Likely) benign	1 lab	8b23397266
21:45706011 AIRE A>G	21	45706011	45706011	A	G	AIRE	c.122A>G	NM_000383.4	NP_000374.1:p.(Asp41Gly)	NC_000021.8:g.45706011A>G	VUS	1 lab	8b23728346
9:128112613 GAPVD1 G>A	9	128112613	128112613	G	A	GAPVD1	c.3339G>A	NM_001282680.3	NP_001269609.1:p.(Ala1113=)	NC_000009.11:g.128112613G>A	VUS	1 lab	8b23d3047b
14:105622067 JAG2 C>T	14	105622067	105622067	C	T	JAG2	c.727+8G>A	NM_002226.5	NP_002217.3:p.?	NC_000014.8:g.105622067C>T	(Likely) benign	1 lab	8b248f9915
5:176721588 NSD1 A>G	5	176721588	176721588	A	G	NSD1	c.7219A>G	NM_022455.5	NP_071900.2:p.(Thr2407Ala)	NC_000005.9:g.176721588A>G	VUS	1 lab	8b265fa66d
10:50724538 ERCC6 A>C	10	50724538	50724538	A	C	ERCC6	c.1397+7541T>G	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50724538A>C	VUS	1 lab	8b266a84ff
1:225428362 DNAH14 G>A	1	225428362	225428362	G	A	DNAH14	c.6586G>A	NM_001367479.1	NP_001354408.1:p.(Val2196Met)	NC_000001.10:g.225428362G>A	VUS	1 lab	8b2a9df0a8
20:60885611 LAMA5 G>A	20	60885611	60885611	G	A	LAMA5	c.10464C>T	NM_005560.6	NP_005551.3:p.(Ser3488=)	NC_000020.10:g.60885611G>A	(Likely) benign	1 lab	8b2b838c5a
16:84224965 ADAD2 GGGGCCCGCGCCCGCGCCCGC>G	16	84224965	84224986	GGGGCCCGCGCCCGCGCCCGC	G	ADAD2	c.131_150del	NM_001145400.2	NP_001138872.1:p.(Gly44AspfsTer113)	NC_000016.9:g.84224967_84224986del	VUS	1 lab	8b2da166ee
2:73456065 PRADC1 G>A	2	73456065	73456065	G	A	PRADC1	c.304C>T	NM_032319.3	NP_115695.1:p.(Arg102Trp)	NC_000002.11:g.73456065G>A	VUS	1 lab	8b2fb78471
16:4393204 PAM16 T>G	16	4393204	4393204	T	G	PAM16	c.88+4A>C	NM_016069.11	NP_057153.8:p.?	NC_000016.9:g.4393204T>G	(Likely) benign	1 lab	8b9841a89d
X:153218230 HCFC1 C>G	X	153218230	153218230	C	G	HCFC1	c.4677G>C	NM_005334.3	NP_005325.2:p.(Gln1559His)	NC_000023.10:g.153218230C>G	(Likely) benign	1 lab	8b31aa6495
7:75612866 POR G>C	7	75612866	75612866	G	C	POR	c.859G>C	NM_000941.3	NP_000932.3:p.(Ala287Pro)	NC_000007.13:g.75612866G>C	(Likely) pathogenic	1 lab	8b337e0e73
11:17452463 ABCC8 G>A	11	17452463	17452463	G	A	ABCC8	c.1715C>T	NM_000352.6	NP_000343.2:p.(Ser572Leu)	NC_000011.9:g.17452463G>A	VUS	1 lab	8b3505289d
6:146480740 GRM1 TTCTCTCTC>T	6	146480740	146480778	TTCTCTCTC	T	GRM1	c.950+38_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480771_146480778del	(Likely) benign	1 lab	8b3775c45c
1:156844766 NTRK1 C>G	1	156844766	156844766	C	G	NTRK1	c.1320C>G	NM_002529.4	NP_002520.2:p.(Asn440Lys)	NC_000001.10:g.156844766C>G	VUS	1 lab	8b3861e878
6:33168096 RXRB A>ACCG	6	33168096	33168115	A	ACCG	RXRB	c.155_157dup	NM_021976.5	NP_068811.1:p.(Ala52dup)	NC_000006.11:g.33168113_33168115dup	VUS	1 lab	8b3869c89a
1:24664220 GRHL3 G>A	1	24664220	24664220	G	A	GRHL3	c.781G>A	NM_198173.3	NP_937816.1:p.(Val261Ile)	NC_000001.10:g.24664220G>A	(Likely) benign	1 lab	8b3969bb6f
3:126707639 PLXNA1 T>C	3	126707639	126707639	T	C	PLXNA1	c.203T>C	NM_032242.4	NP_115618.3:p.(Val68Ala)	NC_000003.11:g.126707639T>C	(Likely) benign	1 lab	8b3cc897dd
7:2580609 BRAT1 G>A	7	2580609	2580609	G	A	BRAT1	c.1395+4C>T	NM_152743.4	NP_689956.2:p.?	NC_000007.13:g.2580609G>A	VUS	1 lab	8b3dbbe2af
12:124957495 NCOR2 C>T	12	124957495	124957495	C	T	NCOR2	c.591+3G>A	NM_006312.6	NP_006303.4:p.?	NC_000012.11:g.124957495C>T	(Likely) benign	1 lab	8b3e58bc69
17:26951321 BLTP2 C>T	17	26951321	26951321	C	T	BLTP2	c.4682G>A	NM_014680.5	NP_055495.2:p.(Cys1561Tyr)	NC_000017.10:g.26951321C>T	VUS	1 lab	8b3f04eec7
13:32912880 BRCA2 AT>A	13	32912880	32912882	AT	A	BRCA2	c.4390del	NM_000059.4	NP_000050.3:p.(Ser1464LeufsTer7)	NC_000013.10:g.32912882del	(Likely) pathogenic	1 lab	253c50199e
1:161495275 HSPA6 T>C	1	161495275	161495275	T	C	HSPA6	c.827T>C	NM_002155.5	NP_002146.2:p.(Leu276Pro)	NC_000001.10:g.161495275T>C	VUS	1 lab	8b434d1a05
2:212248449 ERBB4 C>T	2	212248449	212248449	C	T	ERBB4	c.3818G>A	NM_005235.3	NP_005226.1:p.(Arg1273Gln)	NC_000002.11:g.212248449C>T	VUS	1 lab	8b4552d97f
7:92731599 SAMD9 A>G	7	92731599	92731599	A	G	SAMD9	c.3812T>C	NM_017654.4	NP_060124.2:p.(Phe1271Ser)	NC_000007.13:g.92731599A>G	(Likely) benign	1 lab	8b46d836e7
1:75672357 SLC44A5 C>T	1	75672357	75672357	C	T	SLC44A5	c.2048-2839G>A	NM_001130058.2	NP_001123530.1:p.?	NC_000001.10:g.75672357C>T	(Likely) benign	1 lab	8b47099865
2:178364328 AGPS A>AT	2	178364328	178364341	A	AT	AGPS	c.1363-5dup	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178364341dup	(Likely) benign	1 lab	8b4735d55a
20:43056985 HNF4A C>T	20	43056985	43056985	C	T	HNF4A	c.1140C>T	NM_000457.5	NP_000448.3:p.(Ser380=)	NC_000020.10:g.43056985C>T	(Likely) benign	1 lab	8b47495447
20:9360697 PLCB4 A>G	20	9360697	9360697	A	G	PLCB4	c.745-4A>G	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9360697A>G	(Likely) benign	1 lab	8b474ab770
15:66625113 DIS3L TG>T	15	66625113	66625115	TG	T	DIS3L	c.2723del	NM_001143688.3	NP_001137160.1:p.(Gly908ValfsTer2)	NC_000015.9:g.66625115del	VUS	1 lab	8b47e115c7
11:126294928 KIRREL3 C>T	11	126294928	126294928	C	T	KIRREL3	c.1894-10G>A	NM_032531.4	NP_115920.1:p.?	NC_000011.9:g.126294928C>T	(Likely) benign	1 lab	8b48529aa7
6:43015923 CUL7 C>A	6	43015923	43015923	C	A	CUL7	c.2132G>T	NM_014780.5	NP_055595.2:p.(Cys711Phe)	NC_000006.11:g.43015923C>A	VUS	1 lab	8b49175370
11:108163332 ATM T>TC	11	108163332	108163333	T	TC	ATM	c.4437-13dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108163333dup	(Likely) benign	1 lab	8b4b180cf3
1:237024427 MTR C>G	1	237024427	237024427	C	G	MTR	c.2046C>G	NM_000254.3	NP_000245.2:p.(Gly682=)	NC_000001.10:g.237024427C>G	VUS	1 lab	8b4b92c37e
17:38450699 CDC6 T>C	17	38450699	38450699	T	C	CDC6	c.1027T>C	NM_001254.4	NP_001245.1:p.(Phe343Leu)	NC_000017.10:g.38450699T>C	VUS	1 lab	8b4c126982
20:62595066 ZNF512B G>A	20	62595066	62595066	G	A	ZNF512B	c.1606-3C>T	NM_020713.3	NP_065764.1:p.?	NC_000020.10:g.62595066G>A	(Likely) benign	1 lab	8b4cbcc758
14:75514238 MLH3 A>G	14	75514238	75514238	A	G	MLH3	c.2121T>C	NM_001040108.2	NP_001035197.1:p.(Asp707=)	NC_000014.8:g.75514238A>G	VUS	1 lab	8b4f8b8bcc
10:131757665 EBF3 C>A	10	131757665	131757665	C	A	EBF3	c.412-394G>T	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131757665C>A	(Likely) benign	1 lab	8b532115ad
2:219495414 PLCD4 C>A	2	219495414	219495414	C	A	PLCD4	c.1161C>A	NM_032726.4	NP_116115.1:p.(Cys387Ter)	NC_000002.11:g.219495414C>A	(Likely) benign	1 lab	8b54b2a3ff
7:151884864 KMT2C A>C	7	151884864	151884864	A	C	KMT2C	c.4729T>G	NM_170606.3	NP_733751.2:p.(Leu1577Val)	NC_000007.13:g.151884864A>C	(Likely) benign	1 lab	8b56269ef7
10:69955204 MYPN C>T	10	69955204	69955204	C	T	MYPN	c.3076-3C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69955204C>T	(Likely) benign	1 lab	8b569f44c7
7:4828507 AP5Z1 C>T	7	4828507	4828507	C	T	AP5Z1	c.1632C>T	NM_014855.3	NP_055670.1:p.(Ala544=)	NC_000007.13:g.4828507C>T	(Likely) benign	1 lab	26c8980dd5
3:158450171 RARRES1 A>T	3	158450171	158450171	A	T	RARRES1	c.34T>A	NM_206963.2	NP_996846.1:p.(Trp12Arg)	NC_000003.11:g.158450171A>T	(Likely) benign	1 lab	8b57279a2e
1:27124320 PIGV C>G	1	27124320	27124320	C	G	PIGV	c.1467C>G	NM_017837.4	NP_060307.2:p.(Phe489Leu)	NC_000001.10:g.27124320C>G	VUS	1 lab	8b59039a3c
19:17396577 ANKLE1 G>A	19	17396577	17396577	G	A	ANKLE1	c.1624G>A	NM_152363.6	NP_689576.6:p.(Val542Met)	NC_000019.9:g.17396577G>A	(Likely) benign	1 lab	8b59738d28
11:6568866 DNHD1 C>T	11	6568866	6568866	C	T	DNHD1	c.6697C>T	NM_144666.3	NP_653267.2:p.(Arg2233Cys)	NC_000011.9:g.6568866C>T	(Likely) benign	1 lab	8b5989cb8c
12:109639433 ACACB G>A	12	109639433	109639433	G	A	ACACB	c.2840G>A	NM_001093.4	NP_001084.3:p.(Arg947His)	NC_000012.11:g.109639433G>A	VUS	1 lab	8b5cf1ff75
6:136603831 BCLAF1 A>AACCACACAGCGGCCATTTCCCGATTC	6	136603831	136603833	A	AACCACACAGCGGCCATTTCCCGATTC	BCLAF1	c.-114-7_-114-6insGAATCGGGAAATGGCCGCTGTGTGGT	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136603832_136603833insCCACACAGCGGCCATTTCCCGATTCA	(Likely) benign	1 lab	8b5d239b7b
16:55866949 CES1 T>C	16	55866949	55866949	T	C	CES1	c.19A>G	NM_001025195.2	NP_001020366.1:p.(Ile7Val)	NC_000016.9:g.55866949T>C	(Likely) benign	1 lab	8b5d757329
X:124456028 TEX13C G>T	X	124456028	124456028	G	T	TEX13C	c.2060G>T	NM_001195272.2	NP_001182201.1:p.(Ser687Ile)	NC_000023.10:g.124456028G>T	(Likely) benign	1 lab	8b5fbd9e68
3:25622154 RARB A>G	3	25622154	25622154	A	G	RARB	c.727A>G	NM_000965.5	NP_000956.2:p.(Thr243Ala)	NC_000003.11:g.25622154A>G	VUS	1 lab	8b61af7519
X:100749588 ARMCX4 A>C	X	100749588	100749588	A	C	ARMCX4	c.6012A>C	NM_001256155.3	NP_001243084.2:p.(Gln2004His)	NC_000023.10:g.100749588A>C	(Likely) benign	1 lab	8b625cb4f3
1:181680206 CACNA1E G>T	1	181680206	181680206	G	T	CACNA1E	c.1171+1G>T	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181680206G>T	(Likely) pathogenic	1 lab	8b62df5942
6:116442512 COL10A1 C>T	6	116442512	116442512	C	T	COL10A1	c.767G>A	NM_000493.4	NP_000484.2:p.(Gly256Glu)	NC_000006.11:g.116442512C>T	VUS	1 lab	8b637b69fc
6:24503513 ALDH5A1 A>G	6	24503513	24503513	A	G	ALDH5A1	c.461A>G	NM_001080.3	NP_001071.1:p.(His154Arg)	NC_000006.11:g.24503513A>G	VUS	1 lab	8b68bd2f5d
12:121878655 KDM2B G>A	12	121878655	121878655	G	A	KDM2B	c.3574C>T	NM_032590.5	NP_115979.3:p.(Arg1192Trp)	NC_000012.11:g.121878655G>A	(Likely) benign	1 lab	8b69162559
17:38445789 CDC6 C>A	17	38445789	38445789	C	A	CDC6	c.117C>A	NM_001254.4	NP_001245.1:p.(Val39=)	NC_000017.10:g.38445789C>A	(Likely) benign	1 lab	8b69cf350d
1:44433055 IPO13 G>A	1	44433055	44433055	G	A	IPO13	c.2682G>A	NM_014652.4	NP_055467.3:p.(Lys894=)	NC_000001.10:g.44433055G>A	(Likely) benign	1 lab	8b6bb5bfd1
7:39991372 CDK13 C>T	7	39991372	39991372	C	T	CDK13	c.1132C>T	NM_003718.5	NP_003709.3:p.(Arg378Trp)	NC_000007.13:g.39991372C>T	VUS	1 lab	8b6bd3df16
22:42609849 TCF20 C>CT	22	42609849	42609850	C	CT	TCF20	c.1462dup	NM_001378418.1	NP_001365347.1:p.(Arg488LysfsTer10)	NC_000022.10:g.42609850dup	(Likely) pathogenic	1 lab	8b6bdd61ad
5:125928376 ALDH7A1 C>T	5	125928376	125928376	C	T	ALDH7A1	c.292G>A	NM_001182.5	NP_001173.2:p.(Ala98Thr)	NC_000005.9:g.125928376C>T	VUS	1 lab	8b6cbb5bdf
15:89859680 FANCI G>A	15	89859680	89859680	G	A	FANCI	c.3977G>A	NM_001113378.2	NP_001106849.1:p.(Arg1326Lys)	NC_000015.9:g.89859680G>A	VUS	1 lab	8b6ec75e17
8:17500162 PDGFRL T>A	8	17500162	17500162	T	A	PDGFRL	c.980T>A	NM_001372073.1	NP_001359002.1:p.(Ile327Asn)	NC_000008.10:g.17500162T>A	(Likely) benign	1 lab	8b6f9495ed
1:41467881 CTPS1 A>T	1	41467881	41467881	A	T	CTPS1	c.1144A>T	NM_001905.4	NP_001896.2:p.(Ile382Phe)	NC_000001.10:g.41467881A>T	VUS	1 lab	8b6fe4d9f9
19:50097701 PRR12 C>A	19	50097701	50097701	C	A	PRR12	c.200-10C>A	NM_020719.3	NP_065770.1:p.?	NC_000019.9:g.50097701C>A	(Likely) benign	1 lab	8b8066c99b
8:126052054 WASHC5 AG>A	8	126052054	126052055	AG	A	WASHC5	c.2936del	NM_014846.4	NP_055661.3:p.(Ala979ValfsTer10)	NC_000008.10:g.126052055del	(Likely) pathogenic	1 lab	8b700a76d9
14:45653030 FANCM A>G	14	45653030	45653030	A	G	FANCM	c.4440A>G	NM_020937.4	NP_065988.1:p.(Gln1480=)	NC_000014.8:g.45653030A>G	VUS	1 lab	8b70202171
22:41916184 ACO2 C>T	22	41916184	41916184	C	T	ACO2	c.1042C>T	NM_001098.3	NP_001089.1:p.(His348Tyr)	NC_000022.10:g.41916184C>T	(Likely) benign	1 lab	8b70765580
10:104678084 CNNM2 T>G	10	104678084	104678084	T	G	CNNM2	c.-154T>G	NM_017649.5	NP_060119.3:p.?	NC_000010.10:g.104678084T>G	VUS	1 lab	8b754f68eb
7:149191116 ZNF746 C>T	7	149191116	149191116	C	T	ZNF746	c.415G>A	NM_001394198.1	NP_001381127.1:p.(Val139Met)	NC_000007.13:g.149191116C>T	(Likely) benign	1 lab	8b793546b1
5:140913958 DIAPH1 T>G	5	140913958	140913958	T	G	DIAPH1	c.2525A>C	NM_005219.5	NP_005210.3:p.(Gln842Pro)	NC_000005.9:g.140913958T>G	VUS	1 lab	8b79ef48ef
16:2156900 PKD1 G>A	16	2156900	2156900	G	A	PKD1	c.7115C>T	NM_001009944.2	NP_001009944.2:p.(Ser2372Phe)	NC_000016.9:g.2156900G>A	(Likely) pathogenic	1 lab	26c9f25172
X:25031675 ARX G>A	X	25031675	25031675	G	A	ARX	c.437C>T	NM_139058.3	NP_620689.1:p.(Ala146Val)	NC_000023.10:g.25031675G>A	(Likely) benign	1 lab	8b7b4d6885
20:43031172 HNF4A ATGTCCGTT>A	20	43031172	43031184	ATGTCCGTT	A	HNF4A	c.115+1050_115+1057del	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43031177_43031184del	VUS	1 lab	8b7b7f6436
2:209113206 IDH1 T>A	2	209113206	209113206	T	A	IDH1	c.301A>T	NM_005896.4	NP_005887.2:p.(Asn101Tyr)	NC_000002.11:g.209113206T>A	VUS	1 lab	8b7c6b43e1
7:102296750 SPDYE2B C>G	7	102296750	102296750	C	G	SPDYE2B	c.666C>G	NM_001166339.2	NP_001159811.1:p.(Asp222Glu)	NC_000007.13:g.102296750C>G	(Likely) benign	1 lab	8b7c6ffab4
18:60036724 TNFRSF11A G>A	18	60036724	60036724	G	A	TNFRSF11A	c.1567+7G>A	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.60036724G>A	(Likely) benign	1 lab	8b7d8bbca5
7:25264779 NPVF TGAATAG>T	7	25264779	25264785	TGAATAG	T	NPVF	c.547_552del	NM_022150.3	NP_071433.3:p.(Leu183_Phe184del)	NC_000007.13:g.25264780_25264785del	VUS	1 lab	8b7deed450
X:153735240 FAM3A G>A	X	153735240	153735240	G	A	FAM3A	c.598-3C>T	NM_021806.4	NP_068578.2:p.?	NC_000023.10:g.153735240G>A	VUS	1 lab	8b7e271c5c
15:89863992 POLG C>G	15	89863992	89863992	C	G	POLG	c.2981+5G>C	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89863992C>G	VUS	1 lab	253c7f8347
2:179411050 TTN G>A	2	179411050	179411050	G	A	TTN	c.95008C>T	NM_001267550.2	NP_001254479.2:p.(Arg31670Ter)	NC_000002.11:g.179411050G>A	(Likely) pathogenic	1 lab	8b821dc388
11:62301408 AHNAK T>C	11	62301408	62301408	T	C	AHNAK	c.481A>G	NM_001620.3	NP_001611.1:p.(Thr161Ala)	NC_000011.9:g.62301408T>C	(Likely) benign	1 lab	8b8375c81a
X:9661421 TBL1X C>T	X	9661421	9661421	C	T	TBL1X	c.1015C>T	NM_005647.4	NP_005638.1:p.(Arg339Ter)	NC_000023.10:g.9661421C>T	(Likely) pathogenic	1 lab	8b8420e2ef
1:11181361 MTOR T>C	1	11181361	11181361	T	C	MTOR	c.6875A>G	NM_004958.4	NP_004949.1:p.(Asn2292Ser)	NC_000001.10:g.11181361T>C	(Likely) benign	1 lab	8b847f6787
5:14508401 TRIO G>T	5	14508401	14508401	G	T	TRIO	c.9164G>T	NM_007118.4	NP_009049.2:p.(Gly3055Val)	NC_000005.9:g.14508401G>T	(Likely) benign	1 lab	8b84dc24dc
19:42752897 ERF G>A	19	42752897	42752897	G	A	ERF	c.1367C>T	NM_006494.4	NP_006485.2:p.(Thr456Met)	NC_000019.9:g.42752897G>A	VUS	1 lab	8b855145fe
17:42956952 EFTUD2 A>T	17	42956952	42956952	A	T	EFTUD2	c.674T>A	NM_004247.4	NP_004238.3:p.(Val225Glu)	NC_000017.10:g.42956952A>T	VUS	1 lab	8b85d05a82
19:15366353 BRD4 G>C	19	15366353	15366353	G	C	BRD4	c.1802C>G	NM_001379291.1	NP_001366220.1:p.(Ser601Trp)	NC_000019.9:g.15366353G>C	(Likely) benign	1 lab	8b869e160e
X:69424889 DGAT2L6 G>A	X	69424889	69424889	G	A	DGAT2L6	c.947G>A	NM_198512.3	NP_940914.1:p.(Arg316His)	NC_000023.10:g.69424889G>A	VUS	1 lab	8b880833d8
19:20230026 ZNF90 CATAAG>C	19	20230026	20230036	CATAAG	C	ZNF90	c.1669_1673del	NM_007138.2	NP_009069.1:p.(Ile557SerfsTer10)	NC_000019.9:g.20230032_20230036del	VUS	1 lab	8b889b71c7
9:95050501 IARS1 C>T	9	95050501	95050501	C	T	IARS1	c.183G>A	NM_002161.6	NP_002152.2:p.(Ala61=)	NC_000009.11:g.95050501C>T	VUS	1 lab	8b8ab58b03
10:12159721 DHTKD1 C>T	10	12159721	12159721	C	T	DHTKD1	c.2369C>T	NM_018706.7	NP_061176.4:p.(Pro790Leu)	NC_000010.10:g.12159721C>T	VUS	1 lab	8b8c6df317
20:10628622 JAG1 G>C	20	10628622	10628622	G	C	JAG1	c.1706C>G	NM_000214.3	NP_000205.1:p.(Thr569Arg)	NC_000020.10:g.10628622G>C	VUS	1 lab	8b8c7a961d
6:31827858 NEU1 C>T	6	31827858	31827858	C	T	NEU1	c.982G>A	NM_000434.4	NP_000425.1:p.(Gly328Ser)	NC_000006.11:g.31827858C>T	VUS	1 lab	8b8dffa005
2:219130676 AAMP T>C	2	219130676	219130676	T	C	AAMP	c.764-7A>G	NM_001087.5	NP_001078.2:p.?	NC_000002.11:g.219130676T>C	(Likely) benign	1 lab	8b900b164f
9:139396776 NOTCH1 C>G	9	139396776	139396776	C	G	NOTCH1	c.5332G>C	NM_017617.5	NP_060087.3:p.(Ala1778Pro)	NC_000009.11:g.139396776C>G	(Likely) benign	1 lab	8b91973a5e
17:30219329 UTP6 C>T	17	30219329	30219329	C	T	UTP6	c.374G>A	NM_018428.3	NP_060898.2:p.(Arg125Gln)	NC_000017.10:g.30219329C>T	(Likely) benign	1 lab	8b933faef9
9:133276277 HMCN2 A>G	9	133276277	133276277	A	G	HMCN2	c.11713A>G	NM_001291815.2	NP_001278744.1:p.(Ser3905Gly)	NC_000009.11:g.133276277A>G	(Likely) benign	1 lab	8b943adb9b
21:44488032 CBS G>A	21	44488032	44488032	G	A	CBS	c.316+587C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44488032G>A	VUS	1 lab	8b945c634c
19:48800330 ODAD1 C>T	19	48800330	48800330	C	T	ODAD1	c.2027G>A	NM_001364171.2	NP_001351100.1:p.(Ser676Asn)	NC_000019.9:g.48800330C>T	(Likely) benign	1 lab	8b97bc6267
1:211192214 KCNH1 C>T	1	211192214	211192214	C	T	KCNH1	c.943G>A	NM_172362.3	NP_758872.1:p.(Val315Met)	NC_000001.10:g.211192214C>T	(Likely) benign	1 lab	8b97c5bf88
19:1468506 APC2 A>G	19	1468506	1468506	A	G	APC2	c.5206A>G	NM_005883.3	NP_005874.1:p.(Arg1736Gly)	NC_000019.9:g.1468506A>G	VUS	1 lab	8b97dad49f
2:8926100 KIDINS220 A>G	2	8926100	8926100	A	G	KIDINS220	c.2000T>C	NM_020738.4	NP_065789.1:p.(Ile667Thr)	NC_000002.11:g.8926100A>G	VUS	1 lab	8b981fd62f
3:158402371 GFM1 G>A	3	158402371	158402371	G	A	GFM1	c.1823G>A	NM_024996.7	NP_079272.4:p.(Arg608Gln)	NC_000003.11:g.158402371G>A	VUS	1 lab	8b98481e84
14:24044932 JPH4 C>T	14	24044932	24044932	C	T	JPH4	c.1113G>A	NM_001146028.2	NP_001139500.1:p.(Val371=)	NC_000014.8:g.24044932C>T	VUS	1 lab	8b98ce1ad7
4:128608927 INTU G>A	4	128608927	128608927	G	A	INTU	c.1354G>A	NM_015693.4	NP_056508.2:p.(Ala452Thr)	NC_000004.11:g.128608927G>A	(Likely) benign	1 lab	8b9c0957d1
1:11886232 CLCN6 G>A	1	11886232	11886232	G	A	CLCN6	c.668G>A	NM_001286.5	NP_001277.2:p.(Arg223Gln)	NC_000001.10:g.11886232G>A	(Likely) benign	1 lab	8b9c76274e
14:101350721 RTL1 T>C	14	101350721	101350721	T	C	RTL1	c.405A>G	NM_001134888.3	NP_001128360.1:p.(Gln135=)	NC_000014.8:g.101350721T>C	(Likely) benign	1 lab	8b9e95eb7e
6:101214441 ASCC3 C>A	6	101214441	101214441	C	A	ASCC3	c.1737G>T	NM_006828.4	NP_006819.2:p.(Gln579His)	NC_000006.11:g.101214441C>A	VUS	1 lab	8b9f0fa6f2
X:99887525 TSPAN6 A>G	X	99887525	99887525	A	G	TSPAN6	c.626T>C	NM_003270.4	NP_003261.1:p.(Met209Thr)	NC_000023.10:g.99887525A>G	VUS	1 lab	8ba07177df
13:113200124 TUBGCP3 G>C	13	113200124	113200124	G	C	TUBGCP3	c.1224C>G	NM_006322.6	NP_006313.1:p.(Asp408Glu)	NC_000013.10:g.113200124G>C	(Likely) benign	1 lab	8ba1cf4761
16:30724940 SRCAP C>T	16	30724940	30724940	C	T	SRCAP	c.2401C>T	NM_006662.3	NP_006653.2:p.(Arg801Cys)	NC_000016.9:g.30724940C>T	VUS	1 lab	8ba3db7304
2:179606619 TTN C>G	2	179606619	179606619	C	G	TTN	c.11341G>C	NM_001267550.2	NP_001254479.2:p.(Glu3781Gln)	NC_000002.11:g.179606619C>G	VUS	1 lab	8ba4b802c4
12:99548233 ANKS1B C>T	12	99548233	99548233	C	T	ANKS1B	c.2420-60G>A	NM_001352186.2	NP_001339115.1:p.?	NC_000012.11:g.99548233C>T	(Likely) benign	1 lab	8bc793bbef
16:72821615 ZFHX3 GCCA>G	16	72821615	72821620	GCCA	G	ZFHX3	c.10557_10559del	NM_006885.4	NP_008816.3:p.(Gly3527del)	NC_000016.9:g.72821618_72821620del	VUS	1 lab	8ba509364b
7:151945225 KMT2C T>C	7	151945225	151945225	T	C	KMT2C	c.2294A>G	NM_170606.3	NP_733751.2:p.(Glu765Gly)	NC_000007.13:g.151945225T>C	(Likely) benign	1 lab	8ba6ad84aa
X:153001551 ABCD1 T>C	X	153001551	153001551	T	C	ABCD1	c.1082-15T>C	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153001551T>C	(Likely) benign	1 lab	8ba80bee03
4:106156163 TET2 G>A	4	106156163	106156163	G	A	TET2	c.1064G>A	NM_001127208.3	NP_001120680.1:p.(Gly355Asp)	NC_000004.11:g.106156163G>A	(Likely) benign	1 lab	8ba8a04af0
9:5069216 JAK2 A>G	9	5069216	5069216	A	G	JAK2	c.1513+8A>G	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5069216A>G	(Likely) benign	1 lab	8ba9aa1aa3
21:47929277 DIP2A G>A	21	47929277	47929277	G	A	DIP2A	c.892G>A	NM_015151.4	NP_055966.2:p.(Glu298Lys)	NC_000021.8:g.47929277G>A	(Likely) benign	1 lab	8baaa4831d
14:64591841 SYNE2 C>T	14	64591841	64591841	C	T	SYNE2	c.13467C>T	NM_182914.3	NP_878918.2:p.(Asn4489=)	NC_000014.8:g.64591841C>T	VUS	1 lab	8baab9304d
4:79396610 FRAS1 G>A	4	79396610	79396610	G	A	FRAS1	c.7701G>A	NM_025074.7	NP_079350.5:p.(Lys2567=)	NC_000004.11:g.79396610G>A	(Likely) benign	1 lab	8babd996c0
19:18899520 COMP C>G	19	18899520	18899520	C	G	COMP	c.643G>C	NM_000095.3	NP_000086.2:p.(Gly215Arg)	NC_000019.9:g.18899520C>G	VUS	1 lab	8bac95c9a0
15:34080454 RYR3 G>A	15	34080454	34080454	G	A	RYR3	c.9625G>A	NM_001036.6	NP_001027.3:p.(Asp3209Asn)	NC_000015.9:g.34080454G>A	VUS	1 lab	8bae74db1c
9:96439169 PHF2 G>C	9	96439169	96439169	G	C	PHF2	c.3126G>C	NM_005392.4	NP_005383.3:p.(Gln1042His)	NC_000009.11:g.96439169G>C	(Likely) benign	1 lab	8baea0e6e1
11:8948487 C11orf16 C>T	11	8948487	8948487	C	T	C11orf16	c.559G>A	NM_020643.3	NP_065694.2:p.(Ala187Thr)	NC_000011.9:g.8948487C>T	VUS	1 lab	8bb103fef6
X:99663424 PCDH19 C>A	X	99663424	99663424	C	A	PCDH19	c.172G>T	NM_001184880.2	NP_001171809.1:p.(Ala58Ser)	NC_000023.10:g.99663424C>A	VUS	1 lab	8bb2219170
2:179640323 TTN C>A	2	179640323	179640323	C	A	TTN	c.6268G>T	NM_001267550.2	NP_001254479.2:p.(Gly2090Cys)	NC_000002.11:g.179640323C>A	VUS	1 lab	8bb5c86ee0
9:109765695 ZNF462 G>T	9	109765695	109765695	G	T	ZNF462	c.7177G>T	NM_021224.6	NP_067047.4:p.(Ala2393Ser)	NC_000009.11:g.109765695G>T	(Likely) benign	1 lab	8bb6ef9d59
20:46264217 NCOA3 C>A	20	46264217	46264217	C	A	NCOA3	c.1264C>A	NM_181659.3	NP_858045.1:p.(Pro422Thr)	NC_000020.10:g.46264217C>A	VUS	1 lab	8bb7f0f016
14:63417285 KCNH5 T>TA	14	63417285	63417301	T	TA	KCNH5	c.943-9dup	NM_139318.5	NP_647479.2:p.?	NC_000014.8:g.63417301dup	(Likely) benign	1 lab	8bb83b32a2
11:17409628 KCNJ11 C>T	11	17409628	17409628	C	T	KCNJ11	c.11G>A	NM_000525.4	NP_000516.3:p.(Arg4His)	NC_000011.9:g.17409628C>T	VUS	1 lab	8bb88b258a
11:62294717 AHNAK A>T	11	62294717	62294717	A	T	AHNAK	c.7172T>A	NM_001620.3	NP_001611.1:p.(Leu2391His)	NC_000011.9:g.62294717A>T	(Likely) benign	1 lab	8bb897b489
15:93467673 CHD2 G>A	15	93467673	93467673	G	A	CHD2	c.185G>A	NM_001271.4	NP_001262.3:p.(Ser62Asn)	NC_000015.9:g.93467673G>A	VUS	1 lab	8bb8c64644
8:22008992 LGI3 G>A	8	22008992	22008992	G	A	LGI3	c.829+10C>T	NM_139278.4	NP_644807.1:p.?	NC_000008.10:g.22008992G>A	(Likely) benign	1 lab	8bb9319cb2
1:213134545 VASH2 T>C	1	213134545	213134545	T	C	VASH2	c.314T>C	NM_001301056.2	NP_001287985.1:p.(Met105Thr)	NC_000001.10:g.213134545T>C	VUS	1 lab	8bbaf3f662
6:33169193 SLC39A7 C>A	6	33169193	33169193	C	A	SLC39A7	c.171C>A	NM_006979.3	NP_008910.2:p.(Gly57=)	NC_000006.11:g.33169193C>A	(Likely) benign	1 lab	26cae8ffc3
9:139402448 NOTCH1 C>T	9	139402448	139402448	C	T	NOTCH1	c.3469G>A	NM_017617.5	NP_060087.3:p.(Gly1157Arg)	NC_000009.11:g.139402448C>T	VUS	1 lab	8bbcbeee0b
12:76739943 BBS10 T>C	12	76739943	76739943	T	C	BBS10	c.1822A>G	NM_024685.4	NP_078961.3:p.(Ile608Val)	NC_000012.11:g.76739943T>C	(Likely) benign	1 lab	8bbcd60f54
2:74329202 TET3 G>A	2	74329202	74329202	G	A	TET3	c.5287G>A	NM_001287491.2	NP_001274420.1:p.(Val1763Ile)	NC_000002.11:g.74329202G>A	(Likely) benign	1 lab	8bbe4adcc2
9:135944497 CEL C>T	9	135944497	135944497	C	T	CEL	c.1137C>T	NM_001807.6	NP_001798.3:p.(Gly379=)	NC_000009.11:g.135944497C>T	(Likely) benign	1 lab	8bc3c934cc
9:139733930 RABL6 C>T	9	139733930	139733930	C	T	RABL6	c.1750C>T	NM_024718.5	NP_078994.3:p.(Arg584Cys)	NC_000009.11:g.139733930C>T	(Likely) benign	1 lab	8bc90eaf73
X:68725627 NALF2 C>T	X	68725627	68725627	C	T	NALF2	c.502C>T	NM_015686.3	NP_056501.2:p.(Pro168Ser)	NC_000023.10:g.68725627C>T	VUS	1 lab	8bc9aa32fc
11:125891226 CDON G>A	11	125891226	125891226	G	A	CDON	c.266C>T	NM_001378964.1	NP_001365893.1:p.(Ser89Phe)	NC_000011.9:g.125891226G>A	VUS	1 lab	8bcaf167d1
X:46918243 JADE3 T>C	X	46918243	46918243	T	C	JADE3	c.2236T>C	NM_014735.5	NP_055550.1:p.(Phe746Leu)	NC_000023.10:g.46918243T>C	(Likely) benign	1 lab	8bcbd2e0e5
1:1248918 INTS11 G>A	1	1248918	1248918	G	A	INTS11	c.1012C>T	NM_017871.6	NP_060341.2:p.(Arg338Trp)	NC_000001.10:g.1248918G>A	VUS	1 lab	8bcbe6d55b
1:112305406 DDX20 TAAAAA>T	1	112305406	112305422	TAAAAA	T	DDX20	c.1210+14_1210+18del	NM_007204.5	NP_009135.4:p.?	NC_000001.10:g.112305418_112305422del	VUS	1 lab	8bcc548b8f
9:135942347 CEL GCA>G	9	135942347	135942349	GCA	G	CEL	c.777+16_777+17del	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942348_135942349del	(Likely) benign	1 lab	8bcea46007
1:152282160 FLG CACTG>C	1	152282160	152282168	CACTG	C	FLG	c.5198_5201del	NM_002016.2	NP_002007.1:p.(Ser1733CysfsTer36)	NC_000001.10:g.152282165_152282168del	(Likely) pathogenic	1 lab	8bcf3836a8
1:3647519 TP73 C>T	1	3647519	3647519	C	T	TP73	c.1374C>T	NM_005427.4	NP_005418.1:p.(His458=)	NC_000001.10:g.3647519C>T	VUS	1 lab	8bd0d78a45
1:43805698 MPL T>C	1	43805698	43805698	T	C	MPL	c.754T>C	NM_005373.3	NP_005364.1:p.(Tyr252His)	NC_000001.10:g.43805698T>C	VUS	1 lab	8bd1d5fba5
2:179436532 TTN T>C	2	179436532	179436532	T	C	TTN	c.74327A>G	NM_001267550.2	NP_001254479.2:p.(Lys24776Arg)	NC_000002.11:g.179436532T>C	VUS	1 lab	8bd1e665e1
10:79785990 POLR3A G>A	10	79785990	79785990	G	A	POLR3A	c.45-3C>T	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79785990G>A	(Likely) benign	1 lab	8bd30d4854
X:99661469 PCDH19 C>G	X	99661469	99661469	C	G	PCDH19	c.2127G>C	NM_001184880.2	NP_001171809.1:p.(Glu709Asp)	NC_000023.10:g.99661469C>G	(Likely) benign	1 lab	8bd4d5411b
11:46419076 AMBRA1 T>C	11	46419076	46419076	T	C	AMBRA1	c.3821A>G	NM_001387011.1	NP_001373940.1:p.(Asn1274Ser)	NC_000011.9:g.46419076T>C	(Likely) benign	1 lab	8bd559939d
X:3241334 MXRA5 C>T	X	3241334	3241334	C	T	MXRA5	c.2392G>A	NM_015419.4	NP_056234.2:p.(Gly798Ser)	NC_000023.10:g.3241334C>T	VUS	1 lab	8bd55e5e4e
22:51042761 MAPK8IP2 C>T	22	51042761	51042761	C	T	MAPK8IP2	c.1034C>T	NM_012324.6	NP_036456.1:p.(Ala345Val)	NC_000022.10:g.51042761C>T	VUS	1 lab	8bd5748a96
11:694952 DEAF1 CGCGGCCGCGGCCGCCGCCGCCACA>C	11	694952	694991	CGCGGCCGCGGCCGCCGCCGCCACA	C	DEAF1	c.72_95del	NM_021008.4	NP_066288.2:p.(Val25_Ala32del)	NC_000011.9:g.694968_694991del	(Likely) benign	1 lab	8bd5abc87f
3:127786833 SEC61A1 A>G	3	127786833	127786833	A	G	SEC61A1	c.1175A>G	NM_013336.4	NP_037468.1:p.(Lys392Arg)	NC_000003.11:g.127786833A>G	VUS	1 lab	8bd62dee0f
3:49459295 AMT T>C	3	49459295	49459295	T	C	AMT	c.258+242A>G	NM_000481.3	NP_000472.2:p.?	NC_000003.11:g.49459295T>C	(Likely) benign	1 lab	26caeba6b6
5:138286942 SIL1 A>C	5	138286942	138286942	A	C	SIL1	c.947T>G	NM_022464.5	NP_071909.1:p.(Leu316Arg)	NC_000005.9:g.138286942A>C	VUS	1 lab	8bd9972e22
1:1458143 ATAD3A T>C	1	1458143	1458143	T	C	ATAD3A	c.770T>C	NM_001170535.3	NP_001164006.1:p.(Leu257Pro)	NC_000001.10:g.1458143T>C	VUS	1 lab	25565cd33e
10:112583339 RBM20 G>A	10	112583339	112583339	G	A	RBM20	c.3418G>A	NM_001134363.3	NP_001127835.2:p.(Glu1140Lys)	NC_000010.10:g.112583339G>A	VUS	1 lab	8bda3cccc6
4:119736786 SEC24D G>C	4	119736786	119736786	G	C	SEC24D	c.493C>G	NM_014822.4	NP_055637.2:p.(Gln165Glu)	NC_000004.11:g.119736786G>C	VUS	1 lab	8bdb5d7dc1
13:23894755 SGCG TGC>T	13	23894755	23894757	TGC	T	SGCG	c.579-20_579-19del	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894756_23894757del	(Likely) benign	1 lab	8bdc329a15
X:154176062 F8 T>C	X	154176062	154176062	T	C	F8	c.2024A>G	NM_000132.3	NP_000123.1:p.(Tyr675Cys)	NC_000023.10:g.154176062T>C	(Likely) pathogenic	1 lab	26cbeb361f
14:45605532 FANCM C>G	14	45605532	45605532	C	G	FANCM	c.298C>G	NM_020937.4	NP_065988.1:p.(Arg100Gly)	NC_000014.8:g.45605532C>G	VUS	1 lab	255b488b9f
2:163124782 IFIH1 C>G	2	163124782	163124782	C	G	IFIH1	c.2622G>C	NM_022168.4	NP_071451.2:p.(Leu874Phe)	NC_000002.11:g.163124782C>G	(Likely) benign	1 lab	8bde50f864
2:220022326 NHEJ1 G>A	2	220022326	220022326	G	A	NHEJ1	c.258C>T	NM_024782.2	NP_079058.1:p.(Asp86=)	NC_000002.11:g.220022326G>A	(Likely) benign	1 lab	26cc1a1ae7
1:162326887 NOS1AP CCAG>C	1	162326887	162326905	CCAG	C	NOS1AP	c.916_918del	NM_014697.3	NP_055512.1:p.(Gln306del)	NC_000001.10:g.162326903_162326905del	VUS	1 lab	8be4f97f67
2:169833127 ABCB11 T>C	2	169833127	169833127	T	C	ABCB11	c.1268A>G	NM_003742.4	NP_003733.2:p.(His423Arg)	NC_000002.11:g.169833127T>C	VUS	1 lab	8be73c5b58
9:80923455 PSAT1 G>A	9	80923455	80923455	G	A	PSAT1	c.696G>A	NM_058179.4	NP_478059.1:p.(Val232=)	NC_000009.11:g.80923455G>A	VUS	1 lab	8be742d4f2
6:41129104 TREM2 C>A	6	41129104	41129104	C	A	TREM2	c.288G>T	NM_018965.4	NP_061838.1:p.(Thr96=)	NC_000006.11:g.41129104C>A	(Likely) benign	1 lab	8be8c3fa08
8:61102548 CA8 C>A	8	61102548	61102548	C	A	CA8	c.*36-4G>T	NM_004056.6	NP_004047.3:p.?	NC_000008.10:g.61102548C>A	(Likely) benign	1 lab	8beab7579f
16:72923665 ZFHX3 A>T	16	72923665	72923665	A	T	ZFHX3	c.3413T>A	NM_006885.4	NP_008816.3:p.(Ile1138Asn)	NC_000016.9:g.72923665A>T	VUS	1 lab	8bebb70ca0
4:159560437 RXFP1 A>G	4	159560437	159560437	A	G	RXFP1	c.1069A>G	NM_021634.4	NP_067647.2:p.(Asn357Asp)	NC_000004.11:g.159560437A>G	VUS	1 lab	8bec83f2e1
15:43696606 TP53BP1 T>C	15	43696606	43696606	T	C	TP53BP1	c.*2975A>G	NM_001141980.3	NP_001135452.1:p.?	NC_000015.9:g.43696606T>C	(Likely) benign	1 lab	8becb3aa45
17:41243720 BRCA1 CA>C	17	41243720	41243722	CA	C	BRCA1	c.3827del	NM_007294.4	NP_009225.1:p.(Leu1276TrpfsTer31)	NC_000017.10:g.41243722del	(Likely) pathogenic	1 lab	255bcd2dfe
9:140637832 EHMT1 C>CTTTTTTTT	9	140637832	140637837	C	CTTTTTTTT	EHMT1	c.837_838insTTTTTTTT	NM_024757.5	NP_079033.4:p.(Val280PhefsTer5)	NC_000009.11:g.140637836_140637837insTTTTTTTT	(Likely) benign	1 lab	8bed3a4df4
12:27834595 PPFIBP1 C>T	12	27834595	27834595	C	T	PPFIBP1	c.2012C>T	NM_003622.4	NP_003613.4:p.(Thr671Met)	NC_000012.11:g.27834595C>T	VUS	1 lab	8bf16bdd40
19:47424606 ARHGAP35 G>A	19	47424606	47424606	G	A	ARHGAP35	c.2674G>A	NM_004491.5	NP_004482.4:p.(Ala892Thr)	NC_000019.9:g.47424606G>A	VUS	1 lab	8bf2cce203
2:27682347 IFT172 C>G	2	27682347	27682347	C	G	IFT172	c.2685G>C	NM_015662.3	NP_056477.1:p.(Gln895His)	NC_000002.11:g.27682347C>G	VUS	1 lab	8bf3144d78
2:84937417 DNAH6 C>A	2	84937417	84937417	C	A	DNAH6	c.9259C>A	NM_001370.2	NP_001361.1:p.(Arg3087Ser)	NC_000002.11:g.84937417C>A	VUS	1 lab	256822faaf
20:40033870 CHD6 G>A	20	40033870	40033870	G	A	CHD6	c.7511C>T	NM_032221.5	NP_115597.3:p.(Thr2504Met)	NC_000020.10:g.40033870G>A	VUS	1 lab	8bf3c6c00b
2:217347687 SMARCAL1 C>T	2	217347687	217347687	C	T	SMARCAL1	c.2852C>T	NM_014140.4	NP_054859.2:p.(Thr951Met)	NC_000002.11:g.217347687C>T	VUS	1 lab	8bf50f71d7
5:127670918 FBN2 T>TA	5	127670918	127670919	T	TA	FBN2	c.3916dup	NM_001999.4	NP_001990.2:p.(Tyr1306LeufsTer7)	NC_000005.9:g.127670919dup	VUS	1 lab	8bf81200d2
2:75425690 TACR1 G>A	2	75425690	75425690	G	A	TACR1	c.371C>T	NM_001058.4	NP_001049.1:p.(Thr124Met)	NC_000002.11:g.75425690G>A	VUS	1 lab	8c954c5873
11:17418445 ABCC8 T>C	11	17418445	17418445	T	C	ABCC8	c.4119+18A>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17418445T>C	(Likely) benign	1 lab	8bfb6315c9
19:5692192 LONP1 C>T	19	5692192	5692192	C	T	LONP1	c.2731G>A	NM_004793.4	NP_004784.2:p.(Val911Ile)	NC_000019.9:g.5692192C>T	(Likely) benign	1 lab	8bfc23f1fe
9:13110694 MPDZ T>G	9	13110694	13110694	T	G	MPDZ	c.5770A>C	NM_001378778.1	NP_001365707.1:p.(Met1924Leu)	NC_000009.11:g.13110694T>G	VUS	1 lab	8bfc3981ec
4:1956972 NSD2 C>G	4	1956972	1956972	C	G	NSD2	c.2423C>G	NM_001042424.3	NP_001035889.1:p.(Ser808Cys)	NC_000004.11:g.1956972C>G	(Likely) benign	1 lab	8bfd8f3c65
9:139328511 INPP5E C>A	9	139328511	139328511	C	A	INPP5E	c.1012G>T	NM_019892.6	NP_063945.2:p.(Val338Phe)	NC_000009.11:g.139328511C>A	VUS	1 lab	8c002db2b8
12:56642623 ANKRD52 C>T	12	56642623	56642623	C	T	ANKRD52	c.1624G>A	NM_173595.4	NP_775866.2:p.(Asp542Asn)	NC_000012.11:g.56642623C>T	(Likely) benign	1 lab	8c026d6f79
2:179458909 TTN A>G	2	179458909	179458909	A	G	TTN	c.58211T>C	NM_001267550.2	NP_001254479.2:p.(Phe19404Ser)	NC_000002.11:g.179458909A>G	VUS	1 lab	8c10d8328d
16:29395281 NPIPB11 C>CGCTGAGGGTGGA	16	29395281	29395317	C	CGCTGAGGGTGGA	NPIPB11	c.960_971dup	NM_001310137.5	NP_001297066.2:p.(Pro321_Ala324dup)	NC_000016.9:g.29395306_29395317dup	VUS	1 lab	8c02ef61c8
7:56132036 SUMF2 T>G	7	56132036	56132036	T	G	SUMF2	c.32T>G	NM_015411.4	NP_056226.3:p.(Leu11Arg)	NC_000007.13:g.56132036T>G	(Likely) benign	1 lab	8c045f7fb6
7:148543620 EZH2 C>T	7	148543620	148543620	C	T	EZH2	c.188G>A	NM_004456.5	NP_004447.2:p.(Arg63Gln)	NC_000007.13:g.148543620C>T	VUS	1 lab	8c0469d224
16:89346099 ANKRD11 G>A	16	89346099	89346099	G	A	ANKRD11	c.6851C>T	NM_013275.6	NP_037407.4:p.(Ala2284Val)	NC_000016.9:g.89346099G>A	VUS	1 lab	8c0595544c
8:145737644 RECQL4 G>A	8	145737644	145737644	G	A	RECQL4	c.3119C>T	NM_004260.4	NP_004251.4:p.(Pro1040Leu)	NC_000008.10:g.145737644G>A	VUS	1 lab	8c06c69be6
8:41581954 ANK1 C>T	8	41581954	41581954	C	T	ANK1	c.711+20G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41581954C>T	(Likely) benign	1 lab	26cf9fb13d
16:2147949 PKD1 G>A	16	2147949	2147949	G	A	PKD1	c.10087C>T	NM_001009944.3	NP_001009944.3:p.(Gln3363Ter)	NC_000016.9:g.2147949G>A	(Likely) pathogenic	1 lab	8c089b0ea0
12:56559152 SMARCC2 G>A	12	56559152	56559152	G	A	SMARCC2	c.3182C>T	NM_001330288.2	NP_001317217.1:p.(Ala1061Val)	NC_000012.11:g.56559152G>A	(Likely) benign	1 lab	8c0902e188
6:31323983 HLA-B T>C	6	31323983	31323983	T	C	HLA-B	c.580A>G	NM_005514.8	NP_005505.2:p.(Arg194Gly)	NC_000006.11:g.31323983T>C	VUS	1 lab	8c0ac0b588
2:160194094 BAZ2B G>A	2	160194094	160194094	G	A	BAZ2B	c.5644C>T	NM_013450.4	NP_038478.2:p.(Arg1882Trp)	NC_000002.11:g.160194094G>A	(Likely) benign	1 lab	8c0be585cb
1:16263649 SPEN C>T	1	16263649	16263649	C	T	SPEN	c.10027-9C>T	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16263649C>T	(Likely) benign	1 lab	8c0d05be19
12:2682168 CACNA1C T>C	12	2682168	2682168	T	C	CACNA1C	c.1895+5208T>C	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2682168T>C	(Likely) benign	1 lab	8c0dc9faf0
19:38948717 RYR1 G>A	19	38948717	38948717	G	A	RYR1	c.1952G>A	NM_000540.3	NP_000531.2:p.(Arg651Gln)	NC_000019.9:g.38948717G>A	(Likely) benign	1 lab	8c0e86e28a
15:91486315 UNC45A A>G	15	91486315	91486315	A	G	UNC45A	c.1027+3A>G	NM_018671.5	NP_061141.2:p.?	NC_000015.9:g.91486315A>G	VUS	1 lab	8c0f5b036a
3:168840506 MECOM T>A	3	168840506	168840506	T	A	MECOM	c.840A>T	NM_004991.4	NP_004982.2:p.(Lys280Asn)	NC_000003.11:g.168840506T>A	(Likely) benign	1 lab	8c11be3f38
X:99920249 SRPX2 C>G	X	99920249	99920249	C	G	SRPX2	c.542C>G	NM_014467.3	NP_055282.1:p.(Pro181Arg)	NC_000023.10:g.99920249C>G	(Likely) benign	1 lab	8c15dcc705
5:127610312 FBN2 C>T	5	127610312	127610312	C	T	FBN2	c.7658G>A	NM_001999.4	NP_001990.2:p.(Gly2553Glu)	NC_000005.9:g.127610312C>T	VUS	1 lab	8c166f483a
16:1821082 NME3 C>A	16	1821082	1821082	C	A	NME3	c.268G>T	NM_002513.3	NP_002504.2:p.(Val90Leu)	NC_000016.9:g.1821082C>A	(Likely) benign	1 lab	8c16c567a2
20:36845812 KIAA1755 C>G	20	36845812	36845812	C	G	KIAA1755	c.2744G>C	NM_001029864.2	NP_001025035.1:p.(Gly915Ala)	NC_000020.10:g.36845812C>G	(Likely) benign	1 lab	8c172ad7f9
2:215657182 BARD1 TAAA>T	2	215657182	215657198	TAAA	T	BARD1	c.216-16_216-14del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657196_215657198del	(Likely) benign	1 lab	8c180565b3
5:177421232 PROP1 G>A	5	177421232	177421232	G	A	PROP1	c.217C>T	NM_006261.5	NP_006252.4:p.(Arg73Cys)	NC_000005.9:g.177421232G>A	(Likely) pathogenic	1 lab	8c189e5698
10:88476157 LDB3 T>C	10	88476157	88476157	T	C	LDB3	c.1305T>C	NM_007078.3	NP_009009.1:p.(Pro435=)	NC_000010.10:g.88476157T>C	(Likely) benign	1 lab	8c18e9227b
10:50724316 ERCC6 C>T	10	50724316	50724316	C	T	ERCC6	c.1397+7763G>A	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50724316C>T	VUS	1 lab	8c1c8f39c0
3:48465113 PLXNB1 G>T	3	48465113	48465113	G	T	PLXNB1	c.908C>A	NM_001130082.3	NP_001123554.1:p.(Pro303His)	NC_000003.11:g.48465113G>T	VUS	1 lab	8c1ca0f7df
1:19204076 ALDH4A1 T>C	1	19204076	19204076	T	C	ALDH4A1	c.971A>G	NM_003748.4	NP_003739.2:p.(His324Arg)	NC_000001.10:g.19204076T>C	VUS	1 lab	8c1d6ed337
2:225365077 CUL3 T>C	2	225365077	225365077	T	C	CUL3	c.1610+3A>G	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225365077T>C	VUS	1 lab	8c1dcb14cf
10:87379633 GRID1 A>G	10	87379633	87379633	A	G	GRID1	c.2351T>C	NM_017551.3	NP_060021.1:p.(Phe784Ser)	NC_000010.10:g.87379633A>G	VUS	1 lab	8c1dd094f7
6:144179144 LTV1 G>A	6	144179144	144179144	G	A	LTV1	c.795G>A	NM_032860.5	NP_116249.2:p.(Lys265=)	NC_000006.11:g.144179144G>A	VUS	1 lab	8c1ed91148
3:118865802 TEX55 G>A	3	118865802	118865802	G	A	TEX55	c.766G>A	NM_152539.3	NP_689752.2:p.(Val256Ile)	NC_000003.11:g.118865802G>A	(Likely) benign	1 lab	8c2033acb8
9:16436885 BNC2 G>A	9	16436885	16436885	G	A	BNC2	c.1307C>T	NM_017637.6	NP_060107.3:p.(Ser436Phe)	NC_000009.11:g.16436885G>A	VUS	1 lab	8c21bf4624
19:51535388 KLK12 C>T	19	51535388	51535388	C	T	KLK12	c.201G>A	NM_001370125.1	NP_001357054.1:p.(Arg67=)	NC_000019.9:g.51535388C>T	VUS	1 lab	8c22aab4ba
1:180243539 LHX4 C>T	1	180243539	180243539	C	T	LHX4	c.998C>T	NM_033343.4	NP_203129.1:p.(Thr333Met)	NC_000001.10:g.180243539C>T	(Likely) benign	1 lab	8c23949905
1:16380142 CLCNKB G>A	1	16380142	16380142	G	A	CLCNKB	c.1631G>A	NM_000085.5	NP_000076.2:p.(Arg544His)	NC_000001.10:g.16380142G>A	VUS	1 lab	8c23f74b00
3:105438947 CBLB C>T	3	105438947	105438947	C	T	CBLB	c.1351G>A	NM_170662.5	NP_733762.2:p.(Asp451Asn)	NC_000003.11:g.105438947C>T	VUS	1 lab	8c24743255
3:178919071 PIK3CA G>C	3	178919071	178919071	G	C	PIK3CA	c.563-7G>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178919071G>C	(Likely) benign	1 lab	8c248f30b6
11:44146524 EXT2 A>T	11	44146524	44146524	A	T	EXT2	c.929A>T	NM_207122.2	NP_997005.1:p.(Gln310Leu)	NC_000011.9:g.44146524A>T	VUS	1 lab	8c249e3fc5
12:94761633 CEP83 T>C	12	94761633	94761633	T	C	CEP83	c.1280A>G	NM_016122.3	NP_057206.2:p.(Glu427Gly)	NC_000012.11:g.94761633T>C	VUS	1 lab	8c2577b2ad
17:10543983 MYH3 C>T	17	10543983	10543983	C	T	MYH3	c.2186G>A	NM_002470.4	NP_002461.2:p.(Ser729Asn)	NC_000017.10:g.10543983C>T	VUS	1 lab	8c27944143
9:135942278 CEL C>T	9	135942278	135942278	C	T	CEL	c.723C>T	NM_001807.6	NP_001798.3:p.(Gly241=)	NC_000009.11:g.135942278C>T	(Likely) benign	1 lab	8c29430e7b
16:88909447 GALNS G>A	16	88909447	88909447	G	A	GALNS	c.121-210C>T	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909447G>A	(Likely) benign	1 lab	8c2a879d7e
14:21905401 CHD8 C>T	14	21905401	21905401	C	T	CHD8	c.-215-5384G>A	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21905401C>T	(Likely) benign	1 lab	8c2b28e2af
3:27763037 EOMES C>T	3	27763037	27763037	C	T	EOMES	c.749G>A	NM_001278182.2	NP_001265111.1:p.(Gly250Glu)	NC_000003.11:g.27763037C>T	(Likely) benign	1 lab	8c2b858e8d
11:58861497 GLYATL1B C>T	11	58861497	58861497	C	T	GLYATL1B	c.404C>T	NM_001355566.1	NP_001342495.1:p.(Thr135Met)	NC_000011.9:g.58861497C>T	VUS	1 lab	8c2b883652
2:170804132 UBR3 A>G	2	170804132	170804132	A	G	UBR3	c.2991A>G	NM_172070.4	NP_742067.3:p.(Ile997Met)	NC_000002.11:g.170804132A>G	VUS	1 lab	8c2ddc4d1a
16:71054116 HYDIN T>C	16	71054116	71054116	T	C	HYDIN	c.3291A>G	NM_001270974.2	NP_001257903.1:p.(Ile1097Met)	NC_000016.9:g.71054116T>C	(Likely) benign	1 lab	8c2ddf1670
X:49061611 CACNA1F C>T	X	49061611	49061611	C	T	CACNA1F	c.5887G>A	NM_001256789.3	NP_001243718.1:p.(Val1963Ile)	NC_000023.10:g.49061611C>T	VUS	1 lab	8c2e4757ef
X:8138375 VCX2 T>C	X	8138375	8138375	T	C	VCX2	c.118A>G	NM_016378.3	NP_057462.2:p.(Lys40Glu)	NC_000023.10:g.8138375T>C	(Likely) benign	1 lab	8c3088a47a
X:66766160 AR A>G	X	66766160	66766160	A	G	AR	c.1172A>G	NM_000044.6	NP_000035.2:p.(Asn391Ser)	NC_000023.10:g.66766160A>G	VUS	1 lab	8c310a7f8b
9:123177359 CDK5RAP2 A>T	9	123177359	123177359	A	T	CDK5RAP2	c.4256T>A	NM_018249.6	NP_060719.4:p.(Leu1419Gln)	NC_000009.11:g.123177359A>T	VUS	1 lab	8c3142dccd
1:74670359 FPGT C>T	1	74670359	74670359	C	T	FPGT	c.628C>T	NM_003838.5	NP_003829.4:p.(Pro210Ser)	NC_000001.10:g.74670359C>T	(Likely) benign	1 lab	8c315b8ccb
19:7117227 INSR T>C	19	7117227	7117227	T	C	INSR	c.3989A>G	NM_000208.4	NP_000199.2:p.(Asp1330Gly)	NC_000019.9:g.7117227T>C	VUS	1 lab	8c32b71182
3:151056622 P2RY12 G>A	3	151056622	151056622	G	A	P2RY12	c.12C>T	NM_022788.4	NP_073625.1:p.(Val4=)	NC_000003.11:g.151056622G>A	(Likely) benign	1 lab	26d0a96915
14:70459149 SMOC1 C>T	14	70459149	70459149	C	T	SMOC1	c.542C>T	NM_001034852.3	NP_001030024.1:p.(Pro181Leu)	NC_000014.8:g.70459149C>T	VUS	1 lab	8c34489829
7:21828869 DNAH11 A>T	7	21828869	21828869	A	T	DNAH11	c.9935A>T	NM_001277115.2	NP_001264044.1:p.(Asp3312Val)	NC_000007.13:g.21828869A>T	(Likely) benign	1 lab	8c34adb665
3:124951388 ZNF148 A>G	3	124951388	124951388	A	G	ZNF148	c.2182T>C	NM_021964.3	NP_068799.2:p.(Ser728Pro)	NC_000003.11:g.124951388A>G	(Likely) benign	1 lab	8c350bad47
15:63978554 HERC1 G>A	15	63978554	63978554	G	A	HERC1	c.6225+4C>T	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63978554G>A	(Likely) benign	1 lab	8c35f24a65
3:195511451 MUC4 T>C	3	195511451	195511451	T	C	MUC4	c.7000A>G	NM_018406.7	NP_060876.5:p.(Thr2334Ala)	NC_000003.11:g.195511451T>C	(Likely) benign	1 lab	8c38e5d9be
3:51993427 PCBP4 C>T	3	51993427	51993427	C	T	PCBP4	c.592G>A	NM_001174100.2	NP_001167571.1:p.(Gly198Ser)	NC_000003.11:g.51993427C>T	(Likely) benign	1 lab	8c3904b4e3
6:132171178 ENPP1 G>T	6	132171178	132171178	G	T	ENPP1	c.362G>T	NM_006208.3	NP_006199.2:p.(Arg121Leu)	NC_000006.11:g.132171178G>T	VUS	1 lab	8c3be2fad4
17:44304161 KANSL1 A>AAC	17	44304161	44304163	A	AAC	KANSL1				NC_000017.10:g.44304162_44304163insCA	(Likely) benign	1 lab	8c3be9407f
17:29563002 NF1 G>C	17	29563002	29563002	G	C	NF1	c.3937G>C	NM_001042492.3	NP_001035957.1:p.(Asp1313His)	NC_000017.10:g.29563002G>C	VUS	1 lab	8c4012cc70
X:153592175 FLNA G>A	X	153592175	153592175	G	A	FLNA	c.2280+215C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592175G>A	(Likely) benign	1 lab	8c40eddc20
1:152278770 FLG ATG>A	1	152278770	152278772	ATG	A	FLG	c.8590_8591del	NM_002016.2	NP_002007.1:p.(His2864CysfsTer5)	NC_000001.10:g.152278771_152278772del	(Likely) benign	1 lab	8c41af216f
8:144999785 PLEC G>A	8	144999785	144999785	G	A	PLEC	c.4312C>T	NM_201384.3	NP_958786.1:p.(Arg1438Trp)	NC_000008.10:g.144999785G>A	(Likely) benign	1 lab	8c42826096
19:11311588 DOCK6 G>T	19	11311588	11311588	G	T	DOCK6	c.5829C>A	NM_020812.4	NP_065863.2:p.(Asn1943Lys)	NC_000019.9:g.11311588G>T	(Likely) benign	1 lab	8c43177d78
5:14488292 TRIO C>T	5	14488292	14488292	C	T	TRIO	c.7555C>T	NM_007118.4	NP_009049.2:p.(Pro2519Ser)	NC_000005.9:g.14488292C>T	VUS	1 lab	8c44dab953
19:15292456 NOTCH3 A>T	19	15292456	15292456	A	T	NOTCH3	c.2723T>A	NM_000435.3	NP_000426.2:p.(Phe908Tyr)	NC_000019.9:g.15292456A>T	VUS	1 lab	8c4736e579
7:21813622 DNAH11 G>C	7	21813622	21813622	G	C	DNAH11	c.9336+5G>C	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21813622G>C	(Likely) benign	1 lab	8c4920e408
19:11152157 SMARCA4 G>A	19	11152157	11152157	G	A	SMARCA4	c.4345G>A	NM_003072.5	NP_003063.2:p.(Glu1449Lys)	NC_000019.9:g.11152157G>A	VUS	1 lab	8c4a9b5640
4:102267892 PPP3CA T>C	4	102267892	102267892	T	C	PPP3CA	c.58+4A>G	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102267892T>C	(Likely) benign	1 lab	8c4c6b342e
2:71871127 DYSF C>T	2	71871127	71871127	C	T	DYSF	c.4560C>T	NM_001130987.2	NP_001124459.1:p.(Phe1520=)	NC_000002.11:g.71871127C>T	(Likely) benign	1 lab	8c4cf2692f
10:89473896 PAPSS2 C>T	10	89473896	89473896	C	T	PAPSS2	c.477C>T	NM_001015880.2	NP_001015880.1:p.(Asp159=)	NC_000010.10:g.89473896C>T	(Likely) benign	1 lab	8c4e360b06
19:50209592 CPT1C C>A	19	50209592	50209592	C	A	CPT1C	c.1265C>A	NM_001199753.2	NP_001186682.1:p.(Ala422Glu)	NC_000019.9:g.50209592C>A	(Likely) benign	1 lab	8c4f1160e2
13:103298659 TPP2 A>G	13	103298659	103298659	A	G	TPP2	c.2409A>G	NM_001330588.2	NP_001317517.1:p.(Lys803=)	NC_000013.10:g.103298659A>G	(Likely) benign	1 lab	26d20429f0
11:30358116 ARL14EP AAGTGATACCAGCAAAG>A	11	30358116	30358135	AAGTGATACCAGCAAAG	A	ARL14EP	c.561_576del	NM_152316.3	NP_689529.1:p.(Ile188ArgfsTer9)	NC_000011.9:g.30358120_30358135del	VUS	1 lab	8c4fd9cd32
3:16313201 OXNAD1 A>G	3	16313201	16313201	A	G	OXNAD1	c.155A>G	NM_138381.5	NP_612390.1:p.(Glu52Gly)	NC_000003.11:g.16313201A>G	VUS	1 lab	8c51b73874
11:47469405 RAPSN G>A	11	47469405	47469405	G	A	RAPSN	c.490C>T	NM_005055.5	NP_005046.2:p.(Arg164Cys)	NC_000011.9:g.47469405G>A	(Likely) pathogenic	1 lab	8c53c75ffc
10:61959949 ANK3 C>T	10	61959949	61959949	C	T	ANK3	c.1429G>A	NM_020987.5	NP_066267.2:p.(Gly477Ser)	NC_000010.10:g.61959949C>T	VUS	1 lab	8c54d71536
4:501335 PIGG G>A	4	501335	501335	G	A	PIGG	c.712G>A	NM_001127178.3	NP_001120650.1:p.(Glu238Lys)	NC_000004.11:g.501335G>A	VUS	1 lab	8c58f9be41
1:210578021 HHAT C>T	1	210578021	210578021	C	T	HHAT	c.682C>T	NM_018194.6	NP_060664.2:p.(Gln228Ter)	NC_000001.10:g.210578021C>T	(Likely) pathogenic	1 lab	8c590970ee
6:84865049 CEP162 G>A	6	84865049	84865049	G	A	CEP162	c.2962C>T	NM_014895.4	NP_055710.2:p.(Arg988Cys)	NC_000006.11:g.84865049G>A	(Likely) benign	1 lab	8c59176755
1:116937762 ATP1A1 A>G	1	116937762	116937762	A	G	ATP1A1	c.1691A>G	NM_000701.8	NP_000692.2:p.(Gln564Arg)	NC_000001.10:g.116937762A>G	VUS	1 lab	8c5a988404
19:18899144 COMP G>A	19	18899144	18899144	G	A	COMP	c.868-16C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899144G>A	(Likely) benign	1 lab	8c5d34afe5
16:1252083 CACNA1H G>A	16	1252083	1252083	G	A	CACNA1H	c.1633G>A	NM_021098.3	NP_066921.2:p.(Ala545Thr)	NC_000016.9:g.1252083G>A	VUS	1 lab	8c5e98a439
11:801630 PIDD1 A>AT	11	801630	801631	A	AT	PIDD1	c.1303-7dup	NM_145886.4	NP_665893.2:p.?	NC_000011.9:g.801631dup	VUS	1 lab	8c5fa94e8a
8:11666226 FDFT1 CCCACT>C	8	11666226	11666233	CCCACT	C	FDFT1	c.100-74_100-70del	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666229_11666233del	VUS	1 lab	8c6045f7f9
7:1525110 INTS1 G>A	7	1525110	1525110	G	A	INTS1	c.2977-5C>T	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1525110G>A	VUS	1 lab	8cb46059ec
2:163133932 IFIH1 T>TA	2	163133932	163133935	T	TA	IFIH1	c.2036dup	NM_022168.4	NP_071451.2:p.(Leu679PhefsTer4)	NC_000002.11:g.163133935dup	VUS	1 lab	8c848fc4a8
1:8384561 SLC45A1 C>CCCGGG	1	8384561	8384564	C	CCCGGG	SLC45A1	c.174_175insGGGCC	NM_001080397.3	NP_001073866.3:p.(Ser59GlyfsTer52)	NC_000001.10:g.8384563_8384564insGGGCC	(Likely) benign	1 lab	8c6120f15d
6:152708290 SYNE1 C>T	6	152708290	152708290	C	T	SYNE1	c.8404G>A	NM_182961.4	NP_892006.3:p.(Glu2802Lys)	NC_000006.11:g.152708290C>T	(Likely) benign	1 lab	8c614d43e7
2:169847422 ABCB11 A>C	2	169847422	169847422	A	C	ABCB11	c.797T>G	NM_003742.4	NP_003733.2:p.(Phe266Cys)	NC_000002.11:g.169847422A>C	VUS	1 lab	8c62401fe6
1:986732 AGRN G>A	1	986732	986732	G	A	AGRN	c.5353G>A	NM_198576.4	NP_940978.2:p.(Asp1785Asn)	NC_000001.10:g.986732G>A	(Likely) benign	1 lab	8c625abad3
11:6653909 DCHS1 G>A	11	6653909	6653909	G	A	DCHS1	c.2834C>T	NM_003737.4	NP_003728.1:p.(Pro945Leu)	NC_000011.9:g.6653909G>A	VUS	1 lab	8c6265fc3d
6:146755544 GRM1 A>ACCCGCC	6	146755544	146755556	A	ACCCGCC	GRM1	c.3204_3209dup	NM_001278064.2	NP_001264993.1:p.(Pro1071_Pro1072dup)	NC_000006.11:g.146755551_146755556dup	VUS	1 lab	8c635eb1bd
1:8420361 RERE G>A	1	8420361	8420361	G	A	RERE	c.3206C>T	NM_001042681.2	NP_001036146.1:p.(Pro1069Leu)	NC_000001.10:g.8420361G>A	VUS	1 lab	8c63fb4bb1
20:3214225 SLC4A11 G>A	20	3214225	3214225	G	A	SLC4A11	c.664C>T	NM_001174089.2	NP_001167560.1:p.(Gln222Ter)	NC_000020.10:g.3214225G>A	VUS	1 lab	8c65f89b8d
16:85697023 GSE1 G>A	16	85697023	85697023	G	A	GSE1	c.2447G>A	NM_014615.5	NP_055430.1:p.(Arg816Lys)	NC_000016.9:g.85697023G>A	VUS	1 lab	8c6620b5a4
9:104316339 RNF20 G>T	9	104316339	104316339	G	T	RNF20	c.1971G>T	NM_019592.7	NP_062538.5:p.(Gln657His)	NC_000009.11:g.104316339G>T	(Likely) benign	1 lab	8c66a3923e
1:144916752 PDE4DIP A>G	1	144916752	144916752	A	G	PDE4DIP	c.1804-3T>C	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144916752A>G	(Likely) benign	1 lab	8c66d7948a
1:61743198 NFIA G>A	1	61743198	61743198	G	A	NFIA	c.566G>A	NM_001134673.4	NP_001128145.1:p.(Ser189Asn)	NC_000001.10:g.61743198G>A	VUS	1 lab	8c6a0e1e1d
2:234227440 SAG A>G	2	234227440	234227440	A	G	SAG	c.180A>G	NM_000541.5	NP_000532.2:p.(Lys60=)	NC_000002.11:g.234227440A>G	VUS	1 lab	8c6d834bdb
2:179460232 TTN A>T	2	179460232	179460232	A	T	TTN	c.57847+2T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460232A>T	(Likely) benign	1 lab	8c6e2e2187
1:152281589 FLG G>C	1	152281589	152281589	G	C	FLG	c.5773C>G	NM_002016.2	NP_002007.1:p.(Gln1925Glu)	NC_000001.10:g.152281589G>C	(Likely) benign	1 lab	8c6e7f4f4d
1:206566195 MISSING C>T	1	206566195	206566195	C	T	MISSING				NC_000001.10:g.206566195C>T	(Likely) benign	1 lab	27048567c3
1:120458702 NOTCH2 T>C	1	120458702	120458702	T	C	NOTCH2	c.6643A>G	NM_024408.4	NP_077719.2:p.(Ser2215Gly)	NC_000001.10:g.120458702T>C	(Likely) benign	1 lab	8c706ddc9c
6:69348796 ADGRB3 G>A	6	69348796	69348796	G	A	ADGRB3	c.229G>A	NM_001704.3	NP_001695.2:p.(Asp77Asn)	NC_000006.11:g.69348796G>A	VUS	1 lab	8c7092fa1c
20:43042333 HNF4A G>C	20	43042333	43042333	G	C	HNF4A	c.386-1G>C	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43042333G>C	(Likely) pathogenic	1 lab	8c7116fd8e
10:89503218 PAPSS2 G>A	10	89503218	89503218	G	A	PAPSS2	c.1311G>A	NM_001015880.2	NP_001015880.1:p.(Arg437=)	NC_000010.10:g.89503218G>A	(Likely) benign	1 lab	8c7221b653
1:52850232 ORC1 T>C	1	52850232	52850232	T	C	ORC1	c.1745A>G	NM_004153.4	NP_004144.2:p.(Gln582Arg)	NC_000001.10:g.52850232T>C	VUS	1 lab	8c749fd903
7:104746786 KMT2E T>C	7	104746786	104746786	T	C	KMT2E	c.2597-183T>C	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104746786T>C	(Likely) benign	1 lab	8c74beda79
18:44601733 KATNAL2 C>T	18	44601733	44601733	C	T	KATNAL2	c.1094C>T	NM_001387690.1	NP_001374619.1:p.(Ala365Val)	NC_000018.9:g.44601733C>T	(Likely) benign	1 lab	8c74ee240f
22:41548276 EP300 G>A	22	41548276	41548276	G	A	EP300	c.3064G>A	NM_001429.4	NP_001420.2:p.(Glu1022Lys)	NC_000022.10:g.41548276G>A	(Likely) benign	1 lab	8c7725ed55
11:103022842 DYNC2H1 GT>G	11	103022842	103022855	GT	G	DYNC2H1	c.2947-10del	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103022855del	(Likely) benign	1 lab	8c79b67643
4:6303822 WFS1 T>C	4	6303822	6303822	T	C	WFS1	c.2300T>C	NM_006005.3	NP_005996.2:p.(Ile767Thr)	NC_000004.11:g.6303822T>C	(Likely) benign	1 lab	8c7aea5b89
15:90192606 KIF7 C>T	15	90192606	90192606	C	T	KIF7	c.530-8G>A	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90192606C>T	(Likely) benign	1 lab	8c7cfa589a
10:89472888 PAPSS2 T>C	10	89472888	89472888	T	C	PAPSS2	c.202T>C	NM_001015880.2	NP_001015880.1:p.(Ser68Pro)	NC_000010.10:g.89472888T>C	(Likely) benign	1 lab	8c7fbf9ff7
5:1798932 MRPL36 CG>C	5	1798932	1798937	CG	C	MRPL36	c.117del	NM_032479.4	NP_115868.1:p.(Val40TrpfsTer43)	NC_000005.9:g.1798937del	VUS	1 lab	8c80f69910
8:119122538 EXT1 A>T	8	119122538	119122538	A	T	EXT1	c.748T>A	NM_000127.3	NP_000118.2:p.(Phe250Ile)	NC_000008.10:g.119122538A>T	(Likely) benign	1 lab	8c81eb6b33
16:2143596 PKD1 G>T	16	2143596	2143596	G	T	PKD1	c.10965C>A	NM_001009944.3	NP_001009944.3:p.(Phe3655Leu)	NC_000016.9:g.2143596G>T	(Likely) pathogenic	1 lab	8c8354b5c5
17:73824067 UNC13D A>G	17	73824067	73824067	A	G	UNC13D	c.3252T>C	NM_199242.2	NP_954712.1:p.(His1084=)	NC_000017.10:g.73824067A>G	(Likely) benign	1 lab	26d34d2339
8:10467673 RP1L1 C>CTGTTTTAGTTTCCTCTAACTGCACCCCCT	8	10467673	10467674	C	CTGTTTTAGTTTCCTCTAACTGCACCCCCT	RP1L1	c.3934_3935insAGGGGGTGCAGTTAGAGGAAACTAAAACA	NM_178857.6	NP_849188.4:p.(Gly1312GlufsTer21)	NC_000008.10:g.10467673_10467674insTGTTTTAGTTTCCTCTAACTGCACCCCCT	(Likely) benign	1 lab	8c8695639f
9:135447889 CFAP77 C>T	9	135447889	135447889	C	T	CFAP77	c.847C>T	NM_001282957.2	NP_001269886.1:p.(His283Tyr)	NC_000009.11:g.135447889C>T	(Likely) benign	1 lab	8c86ec5fec
20:61444636 OGFR AG>A	20	61444636	61444637	AG	A	OGFR	c.1670del	NM_007346.4	NP_031372.2:p.(Ser557ThrfsTer157)	NC_000020.10:g.61444637del	VUS	1 lab	8c88230a28
19:14582595 PKN1 A>G	19	14582595	14582595	A	G	PKN1	c.2828A>G	NM_002741.5	NP_002732.3:p.(Ter943TrpextTer15)	NC_000019.9:g.14582595A>G	VUS	1 lab	8c8899fd07
2:33172799 LTBP1 G>C	2	33172799	33172799	G	C	LTBP1	c.408G>C	NM_206943.4	NP_996826.3:p.(Arg136Ser)	NC_000002.11:g.33172799G>C	VUS	1 lab	8c88a27520
2:15770158 DDX1 G>C	2	15770158	15770158	G	C	DDX1	c.2016G>C	NM_004939.3	NP_004930.1:p.(Gln672His)	NC_000002.11:g.15770158G>C	(Likely) benign	1 lab	8c88fd92a5
1:27023252 ARID1A C>T	1	27023252	27023252	C	T	ARID1A	c.358C>T	NM_006015.6	NP_006006.3:p.(Pro120Ser)	NC_000001.10:g.27023252C>T	(Likely) benign	1 lab	8c89038fdb
5:127685697 FBN2 T>C	5	127685697	127685697	T	C	FBN2	c.2813A>G	NM_001999.4	NP_001990.2:p.(Asp938Gly)	NC_000005.9:g.127685697T>C	VUS	1 lab	8c89d69ca8
11:66010854 PACS1 C>T	11	66010854	66010854	C	T	PACS1	c.*103C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.66010854C>T	VUS	1 lab	8c8aa08995
13:32905062 BRCA2 A>G	13	32905062	32905062	A	G	BRCA2	c.688A>G	NM_000059.4	NP_000050.3:p.(Lys230Glu)	NC_000013.10:g.32905062A>G	(Likely) benign	1 lab	8c8cae21dc
15:43687771 TUBGCP4 C>A	15	43687771	43687771	C	A	TUBGCP4	c.1066-10C>A	NM_014444.5	NP_055259.2:p.?	NC_000015.9:g.43687771C>A	(Likely) benign	1 lab	8c938b8091
2:208632942 FZD5 CCCTGGCGGG>C	2	208632942	208632956	CCCTGGCGGG	C	FZD5	c.513_521del	NM_003468.4	NP_003459.2:p.(Pro172_Gly174del)	NC_000002.11:g.208632948_208632956del	VUS	1 lab	8c93bad438
13:32905117 BRCA2 C>T	13	32905117	32905117	C	T	BRCA2	c.743C>T	NM_000059.4	NP_000050.3:p.(Ala248Val)	NC_000013.10:g.32905117C>T	VUS	1 lab	8c95cd0739
4:85722839 WDFY3 C>T	4	85722839	85722839	C	T	WDFY3	c.2786G>A	NM_014991.6	NP_055806.2:p.(Arg929Gln)	NC_000004.11:g.85722839C>T	(Likely) benign	1 lab	8c95e06e18
3:121527826 IQCB1 A>G	3	121527826	121527826	A	G	IQCB1	c.424T>C	NM_001023570.4	NP_001018864.2:p.(Phe142Leu)	NC_000003.11:g.121527826A>G	(Likely) benign	1 lab	26d5ad4d68
12:31298463 MISSING G>T	12	31298463	31298463	G	T	MISSING				NC_000012.11:g.31298463G>T	(Likely) benign	1 lab	8c9905e92d
11:17428659 ABCC8 C>T	11	17428659	17428659	C	T	ABCC8	c.2938G>A	NM_000352.6	NP_000343.2:p.(Glu980Lys)	NC_000011.9:g.17428659C>T	VUS	1 lab	8c990d6287
X:78618525 ITM2A C>T	X	78618525	78618525	C	T	ITM2A	c.355G>A	NM_004867.5	NP_004858.1:p.(Glu119Lys)	NC_000023.10:g.78618525C>T	(Likely) benign	1 lab	8c9951053f
1:186294988 TPR TA>T	1	186294988	186294993	TA	T	TPR	c.6022-3del	NM_003292.3	NP_003283.2:p.?	NC_000001.10:g.186294993del	(Likely) benign	1 lab	8c99c3fd83
7:39991306 CDK13 C>G	7	39991306	39991306	C	G	CDK13	c.1066C>G	NM_003718.5	NP_003709.3:p.(Pro356Ala)	NC_000007.13:g.39991306C>G	(Likely) benign	1 lab	8c99d3d810
X:152858048 CCNQ G>A	X	152858048	152858048	G	A	CCNQ	c.573C>T	NM_152274.5	NP_689487.2:p.(Ile191=)	NC_000023.10:g.152858048G>A	VUS	1 lab	8c9a6493b4
16:29989477 TAOK2 A>G	16	29989477	29989477	A	G	TAOK2	c.200A>G	NM_016151.4	NP_057235.2:p.(Asn67Ser)	NC_000016.9:g.29989477A>G	VUS	1 lab	8c9aac64ca
2:10187874 KLF11 A>G	2	10187874	10187874	A	G	KLF11	c.410A>G	NM_003597.5	NP_003588.1:p.(Asp137Gly)	NC_000002.11:g.10187874A>G	(Likely) benign	1 lab	8c9cac881d
17:41245489 BRCA1 G>A	17	41245489	41245489	G	A	BRCA1	c.2059C>T	NM_007294.4	NP_009225.1:p.(Gln687Ter)	NC_000017.10:g.41245489G>A	(Likely) pathogenic	1 lab	8c9cf89fd0
16:89334900 ANKRD11 A>ATACAAAG	16	89334900	89334908	A	ATACAAAG	ANKRD11	c.7971_7977dup	NM_013275.6	NP_037407.4:p.(Leu2661CysfsTer91)	NC_000016.9:g.89334902_89334908dup	(Likely) pathogenic	1 lab	8c9d3fccee
20:33330548 NCOA6 G>A	20	33330548	33330548	G	A	NCOA6	c.3512C>T	NM_014071.5	NP_054790.2:p.(Ser1171Leu)	NC_000020.10:g.33330548G>A	(Likely) benign	1 lab	8c9e196c29
1:160012175 KCNJ10 G>A	1	160012175	160012175	G	A	KCNJ10	c.148C>T	NM_002241.5	NP_002232.2:p.(Leu50Phe)	NC_000001.10:g.160012175G>A	VUS	1 lab	8c9eb9d200
19:33417859 CEP89 C>T	19	33417859	33417859	C	T	CEP89	c.1061G>A	NM_032816.5	NP_116205.3:p.(Gly354Asp)	NC_000019.9:g.33417859C>T	(Likely) benign	1 lab	8c9fad7b26
10:76737164 KAT6B T>C	10	76737164	76737164	T	C	KAT6B	c.2084T>C	NM_012330.4	NP_036462.2:p.(Val695Ala)	NC_000010.10:g.76737164T>C	(Likely) benign	1 lab	8ca127c658
1:115576745 TSHB G>A	1	115576745	115576745	G	A	TSHB	c.314G>A	NM_000549.5	NP_000540.2:p.(Cys105Tyr)	NC_000001.10:g.115576745G>A	VUS	1 lab	8ca163c523
17:38787131 SMARCE1 C>T	17	38787131	38787131	C	T	SMARCE1	c.862G>A	NM_003079.5	NP_003070.3:p.(Glu288Lys)	NC_000017.10:g.38787131C>T	VUS	1 lab	25785f40c3
2:46603829 EPAS1 G>T	2	46603829	46603829	G	T	EPAS1	c.1186G>T	NM_001430.5	NP_001421.2:p.(Glu396Ter)	NC_000002.11:g.46603829G>T	VUS	1 lab	8ca4499895
17:1383868 MYO1C C>T	17	1383868	1383868	C	T	MYO1C	c.859G>A	NM_001080779.2	NP_001074248.1:p.(Val287Ile)	NC_000017.10:g.1383868C>T	(Likely) benign	1 lab	8ca60ee641
X:53264991 IQSEC2 C>T	X	53264991	53264991	C	T	IQSEC2	c.3475G>A	NM_001111125.3	NP_001104595.1:p.(Val1159Met)	NC_000023.10:g.53264991C>T	VUS	1 lab	8ca736b971
1:27874104 AHDC1 G>A	1	27874104	27874104	G	A	AHDC1	c.4523C>T	NM_001371928.1	NP_001358857.1:p.(Pro1508Leu)	NC_000001.10:g.27874104G>A	VUS	1 lab	8ca7b36aba
8:144997704 PLEC T>TGCCTGA	8	144997704	144997713	T	TGCCTGA	PLEC	c.6387_6392dup	NM_201384.3	NP_958786.1:p.(Gln2132_Ala2133dup)	NC_000008.10:g.144997708_144997713dup	(Likely) benign	1 lab	8ca7d77fb3
8:133175727 KCNQ3 T>A	8	133175727	133175727	T	A	KCNQ3	c.1250A>T	NM_004519.4	NP_004510.1:p.(Glu417Val)	NC_000008.10:g.133175727T>A	VUS	1 lab	8ca83f67ca
8:110424563 PKHD1L1 C>T	8	110424563	110424563	C	T	PKHD1L1	c.2155C>T	NM_177531.6	NP_803875.2:p.(Pro719Ser)	NC_000008.10:g.110424563C>T	VUS	1 lab	8ca86dde9a
X:595410 SHOX A>C	X	595410	595410	A	C	SHOX	c.335A>C	NM_000451.3	NP_000442.1:p.(Gln112Pro)	NC_000023.10:g.595410A>C	(Likely) pathogenic	1 lab	8ca9c52fcb
X:76912108 ATRX C>T	X	76912108	76912108	C	T	ATRX	c.4156G>A	NM_000489.6	NP_000480.3:p.(Glu1386Lys)	NC_000023.10:g.76912108C>T	VUS	1 lab	25789ccba9
19:47575282 ZC3H4 GTGCATGTCAGGA>G	19	47575282	47575299	GTGCATGTCAGGA	G	ZC3H4	c.1887_1898del	NM_015168.2	NP_055983.1:p.(Pro642_His645del)	NC_000019.9:g.47575288_47575299del	VUS	1 lab	8caaab240d
9:131083973 TRUB2 C>T	9	131083973	131083973	C	T	TRUB2	c.146G>A	NM_015679.3	NP_056494.1:p.(Arg49His)	NC_000009.11:g.131083973C>T	(Likely) benign	1 lab	8cace08407
19:35524623 SCN1B A>C	19	35524623	35524623	A	C	SCN1B	c.428A>C	NM_001037.5	NP_001028.1:p.(His143Pro)	NC_000019.9:g.35524623A>C	VUS	1 lab	8caceebe9a
1:22158135 HSPG2 T>A	1	22158135	22158135	T	A	HSPG2	c.11352+10A>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22158135T>A	(Likely) benign	1 lab	8cadafc446
12:116433496 MED13L T>C	12	116433496	116433496	T	C	MED13L	c.2996+785A>G	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116433496T>C	(Likely) benign	1 lab	8cb0a09dc2
6:5187088 LYRM4 T>G	6	5187088	5187088	T	G	LYRM4	c.207+29763A>C	NM_020408.6	NP_065141.3:p.?	NC_000006.11:g.5187088T>G	(Likely) benign	1 lab	8cb19859b3
12:12871203 CDKN1B T>G	12	12871203	12871203	T	G	CDKN1B	c.430T>G	NM_004064.5	NP_004055.1:p.(Leu144Val)	NC_000012.11:g.12871203T>G	VUS	1 lab	8cb33132d6
10:89487165 PAPSS2 C>T	10	89487165	89487165	C	T	PAPSS2	c.1005C>T	NM_001015880.2	NP_001015880.1:p.(Asp335=)	NC_000010.10:g.89487165C>T	(Likely) benign	1 lab	8cb33350ad
9:108467941 TMEM38B T>G	9	108467941	108467941	T	G	TMEM38B	c.176T>G	NM_018112.3	NP_060582.1:p.(Phe59Cys)	NC_000009.11:g.108467941T>G	VUS	1 lab	8cb34bf67e
18:2732461 SMCHD1 A>G	18	2732461	2732461	A	G	SMCHD1	c.3247A>G	NM_015295.3	NP_056110.2:p.(Ile1083Val)	NC_000018.9:g.2732461A>G	(Likely) benign	1 lab	8cb3973685
12:49426624 KMT2D AGCTGCTGTT>A	12	49426624	49426643	AGCTGCTGTT	A	KMT2D	c.11855_11863del	NM_003482.4	NP_003473.3:p.(Gln3952_Gln3954del)	NC_000012.11:g.49426635_49426643del	VUS	1 lab	257b292c9c
17:61995449 GH1 G>A	17	61995449	61995449	G	A	GH1	c.219C>T	NM_000515.5	NP_000506.2:p.(Asn73=)	NC_000017.10:g.61995449G>A	(Likely) benign	1 lab	8cb58a0c59
13:111158677 COL4A2 TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC>T	13	111158677	111158778	TAGGTGCACCAGGCCGTCCACTCTCTCTCTTTCTCGGGCTGC	T	COL4A2	c.4403-24_4419del	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111158738_111158778del	(Likely) benign	1 lab	8cb5a98f2b
10:50171888 WDFY4 C>T	10	50171888	50171888	C	T	WDFY4	c.8225C>T	NM_001394531.1	NP_001381460.1:p.(Ala2742Val)	NC_000010.10:g.50171888C>T	VUS	1 lab	8cb67c9472
1:225599035 LBR A>G	1	225599035	225599035	A	G	LBR	c.1188+4T>C	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225599035A>G	(Likely) benign	1 lab	8cb6969882
3:11067522 SLC6A1 G>T	3	11067522	11067522	G	T	SLC6A1	c.913G>T	NM_003042.4	NP_003033.3:p.(Ala305Ser)	NC_000003.11:g.11067522G>T	VUS	1 lab	8cb9ffff46
19:3207634 NCLN GCCT>G	19	3207634	3207641	GCCT	G	NCLN	c.1645_1647del	NM_020170.4	NP_064555.2:p.(Leu549del)	NC_000019.9:g.3207639_3207641del	VUS	1 lab	8cbb720ac8
16:58608967 CNOT1 G>A	16	58608967	58608967	G	A	CNOT1	c.1771C>T	NM_016284.5	NP_057368.3:p.(Arg591Cys)	NC_000016.9:g.58608967G>A	VUS	1 lab	8cbc2dd459
17:42331922 SLC4A1 A>T	17	42331922	42331922	A	T	SLC4A1	c.1999T>A	NM_000342.4	NP_000333.1:p.(Ser667Thr)	NC_000017.10:g.42331922A>T	VUS	1 lab	8cbcc47d77
10:126715159 CTBP2 A>AGCCGCAGGCTGGGGCTGCAGG	10	126715159	126715167	A	AGCCGCAGGCTGGGGCTGCAGG	CTBP2	c.58+12406_58+12407insCCTGCAGCCCCAGCCTGCGGC	NM_001329.4	NP_001320.1:p.?	NC_000010.10:g.126715166_126715167insGCTGGGGCTGCAGGGCCGCAG	VUS	1 lab	8cbd08c3bb
20:44598203 ZNF335 C>A	20	44598203	44598203	C	A	ZNF335	c.329G>T	NM_022095.4	NP_071378.1:p.(Ser110Ile)	NC_000020.10:g.44598203C>A	VUS	1 lab	8cbf88f8c3
13:32913697 BRCA2 A>G	13	32913697	32913697	A	G	BRCA2	c.5205A>G	NM_000059.4	NP_000050.3:p.(Lys1735=)	NC_000013.10:g.32913697A>G	VUS	1 lab	8cc0725fb5
X:123215312 STAG2 G>A	X	123215312	123215312	G	A	STAG2	c.2858G>A	NM_001042750.2	NP_001036215.1:p.(Arg953Gln)	NC_000023.10:g.123215312G>A	VUS	1 lab	8cc235d6c4
12:112720990 HECTD4 A>C	12	112720990	112720990	A	C	HECTD4	c.1452T>G	NM_001388303.1	NP_001375232.1:p.(Tyr484Ter)	NC_000012.11:g.112720990A>C	VUS	1 lab	8cc3713a72
9:140615680 EHMT1 CT>C	9	140615680	140615681	CT	C	EHMT1	c.642+4047del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140615681del	(Likely) benign	1 lab	8cc4a6a04c
10:97386506 ALDH18A1 A>G	10	97386506	97386506	A	G	ALDH18A1	c.1106T>C	NM_002860.4	NP_002851.2:p.(Met369Thr)	NC_000010.10:g.97386506A>G	VUS	1 lab	8cc5258c48
22:45921505 FBLN1 C>T	22	45921505	45921505	C	T	FBLN1	c.268C>T	NM_006486.3	NP_006477.3:p.(Arg90Cys)	NC_000022.10:g.45921505C>T	VUS	1 lab	8cc8e627cd
7:44189565 GCK C>CA	7	44189565	44189566	C	CA	GCK	c.579+2dup	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44189566dup	VUS	1 lab	8cc92f4a2c
17:29665804 NF1 T>C	17	29665804	29665804	T	C	NF1	c.6902T>C	NM_001042492.3	NP_001035957.1:p.(Leu2301Ser)	NC_000017.10:g.29665804T>C	VUS	1 lab	8ccb448920
3:63973307 ATXN7 A>C	3	63973307	63973307	A	C	ATXN7	c.1096-428A>C	NM_001377405.1	NP_001364334.1:p.?	NC_000003.11:g.63973307A>C	(Likely) benign	1 lab	8cccdcca18
3:58112364 FLNB A>C	3	58112364	58112364	A	C	FLNB	c.4097A>C	NM_001457.4	NP_001448.2:p.(Glu1366Ala)	NC_000003.11:g.58112364A>C	VUS	1 lab	8ccec7177c
2:70524451 TIMCC C>T	2	70524451	70524451	C	T	TIMCC	c.708G>A	NM_001329752.2	NP_001316681.1:p.(Met236Ile)	NC_000002.11:g.70524451C>T	(Likely) benign	1 lab	8cd19595c2
6:152675936 SYNE1 T>C	6	152675936	152675936	T	C	SYNE1	c.10784A>G	NM_182961.4	NP_892006.3:p.(Asn3595Ser)	NC_000006.11:g.152675936T>C	VUS	1 lab	8cd1febdbe
6:56482783 DST C>CCT	6	56482783	56482787	C	CCT	DST	c.6047_6048dup	NM_001723.7	NP_001714.1:p.(Ile2017ArgfsTer2)	NC_000006.11:g.56482786_56482787dup	VUS	1 lab	257d5d1528
17:36707616 SRCIN1 G>C	17	36707616	36707616	G	C	SRCIN1	c.2737C>G	NM_025248.3	NP_079524.2:p.(Arg913Gly)	NC_000017.10:g.36707616G>C	(Likely) benign	1 lab	8cd291fce7
11:73745083 C2CD3 G>A	11	73745083	73745083	G	A	C2CD3	c.6122C>T	NM_001286577.2	NP_001273506.1:p.(Ala2041Val)	NC_000011.9:g.73745083G>A	(Likely) benign	1 lab	8cd6a3618b
4:79432606 FRAS1 C>T	4	79432606	79432606	C	T	FRAS1	c.9959C>T	NM_025074.7	NP_079350.5:p.(Ser3320Phe)	NC_000004.11:g.79432606C>T	VUS	1 lab	8cd6a3b3f2
10:104854127 NT5C2 G>A	10	104854127	104854127	G	A	NT5C2	c.899C>T	NM_001351169.2	NP_001338098.1:p.(Thr300Ile)	NC_000010.10:g.104854127G>A	VUS	1 lab	8cd7163535
3:172165537 GHSR GGAA>G	3	172165537	172165548	GGAA	G	GHSR	c.664_666del	NM_198407.2	NP_940799.1:p.(Phe222del)	NC_000003.11:g.172165546_172165548del	VUS	1 lab	8cd75f3178
1:43224865 P3H1 C>T	1	43224865	43224865	C	T	P3H1	c.808+7G>A	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43224865C>T	(Likely) benign	1 lab	8cd85c1a3f
21:47551991 COL6A2 G>A	21	47551991	47551991	G	A	COL6A2	c.2585G>A	NM_001849.4	NP_001840.3:p.(Arg862Gln)	NC_000021.8:g.47551991G>A	(Likely) benign	1 lab	8cdc58c642
20:58342409 PHACTR3 C>T	20	58342409	58342409	C	T	PHACTR3	c.710C>T	NM_080672.5	NP_542403.1:p.(Pro237Leu)	NC_000020.10:g.58342409C>T	(Likely) benign	1 lab	8cdc5cd41a
12:5021091 KCNA1 A>G	12	5021091	5021091	A	G	KCNA1	c.547A>G	NM_000217.3	NP_000208.2:p.(Ile183Val)	NC_000012.11:g.5021091A>G	(Likely) benign	1 lab	8cdcc5272f
17:73946976 ACOX1 G>A	17	73946976	73946976	G	A	ACOX1	c.1177C>T	NM_004035.7	NP_004026.2:p.(Arg393Trp)	NC_000017.10:g.73946976G>A	VUS	1 lab	8cde72b5de
X:123637493 TENM1 A>G	X	123637493	123637493	A	G	TENM1	c.3362T>C	NM_001163278.2	NP_001156750.1:p.(Val1121Ala)	NC_000023.10:g.123637493A>G	VUS	1 lab	8ce1009f79
9:73151501 TRPM3 G>A	9	73151501	73151501	G	A	TRPM3	c.4528C>T	NM_001366145.2	NP_001353074.1:p.(Arg1510Cys)	NC_000009.11:g.73151501G>A	(Likely) benign	1 lab	8ce2b6457e
17:15973668 NCOR1 C>T	17	15973668	15973668	C	T	NCOR1	c.4324G>A	NM_006311.4	NP_006302.2:p.(Glu1442Lys)	NC_000017.10:g.15973668C>T	VUS	1 lab	8ce4398c13
9:139748063 MAMDC4 C>T	9	139748063	139748063	C	T	MAMDC4	c.395C>T	NM_206920.3	NP_996803.2:p.(Thr132Ile)	NC_000009.11:g.139748063C>T	(Likely) benign	1 lab	8ce73bfc42
1:226037685 TMEM63A C>T	1	226037685	226037685	C	T	TMEM63A	c.1999G>A	NM_014698.3	NP_055513.2:p.(Ala667Thr)	NC_000001.10:g.226037685C>T	(Likely) benign	1 lab	8ce7b7ca09
19:17264841 MYO9B C>T	19	17264841	17264841	C	T	MYO9B	c.1063C>T	NM_004145.4	NP_004136.2:p.(Leu355Phe)	NC_000019.9:g.17264841C>T	VUS	1 lab	8ce802327c
1:78408367 NEXN C>CTT	1	78408367	78408369	C	CTT	NEXN	c.1882_1883insTT	NM_144573.4	NP_653174.3:p.(Tyr628PhefsTer59)	NC_000001.10:g.78408368_78408369insTT	(Likely) pathogenic	1 lab	8ce8689edf
20:3180666 DDRGK1 C>A	20	3180666	3180666	C	A	DDRGK1	c.491G>T	NM_023935.3	NP_076424.1:p.(Arg164Leu)	NC_000020.10:g.3180666C>A	(Likely) benign	1 lab	8ce8988d49
3:192973435 PLAAT1 T>G	3	192973435	192973435	T	G	PLAAT1	c.1-5T>G	NM_020386.5	NP_065119.3:p.?	NC_000003.11:g.192973435T>G	VUS	1 lab	8ce978ab38
2:84811183 DNAH6 T>C	2	84811183	84811183	T	C	DNAH6	c.2290T>C	NM_001370.2	NP_001361.1:p.(Tyr764His)	NC_000002.11:g.84811183T>C	(Likely) benign	1 lab	8ce9f646ba
13:35632946 NBEA A>C	13	35632946	35632946	A	C	NBEA	c.1185A>C	NM_001385012.1	NP_001371941.1:p.(Glu395Asp)	NC_000013.10:g.35632946A>C	(Likely) benign	1 lab	8cec8f696e
2:207169911 ZDBF2 A>G	2	207169911	207169911	A	G	ZDBF2	c.659A>G	NM_020923.3	NP_065974.1:p.(Asp220Gly)	NC_000002.11:g.207169911A>G	(Likely) benign	1 lab	8ced346bb3
1:89657001 GBP4 T>G	1	89657001	89657001	T	G	GBP4	c.859A>C	NM_052941.5	NP_443173.2:p.(Ile287Leu)	NC_000001.10:g.89657001T>G	VUS	1 lab	8ced8253e1
20:31368139 DNMT3B G>C	20	31368139	31368139	G	C	DNMT3B	c.10G>C	NM_006892.4	NP_008823.1:p.(Asp4His)	NC_000020.10:g.31368139G>C	VUS	1 lab	8cede4bb94
7:74016699 GTF2IRD1 C>T	7	74016699	74016699	C	T	GTF2IRD1	c.2774C>T	NM_005685.4	NP_005676.3:p.(Pro925Leu)	NC_000007.13:g.74016699C>T	(Likely) benign	1 lab	8cef96f1a4
4:103808519 CISD2 C>T	4	103808519	103808519	C	T	CISD2	c.340C>T	NM_001008388.5	NP_001008389.1:p.(His114Tyr)	NC_000004.11:g.103808519C>T	(Likely) benign	1 lab	8cf055c3ab
9:99180032 ZNF367 GGGCGGCCGAGGC>G	9	99180032	99180051	GGGCGGCCGAGGC	G	ZNF367	c.271_282del	NM_153695.4	NP_710162.1:p.(Ala91_Ala94del)	NC_000009.11:g.99180040_99180051del	VUS	1 lab	8cf18ca115
X:105159737 NRK C>T	X	105159737	105159737	C	T	NRK	c.2365C>T	NM_198465.4	NP_940867.2:p.(Pro789Ser)	NC_000023.10:g.105159737C>T	(Likely) benign	1 lab	8cf19dcfce
3:155198945 PLCH1 C>T	3	155198945	155198945	C	T	PLCH1	c.4870G>A	NM_014996.4	NP_055811.2:p.(Gly1624Ser)	NC_000003.11:g.155198945C>T	VUS	1 lab	8cf261e668
5:71490523 MAP1B C>G	5	71490523	71490523	C	G	MAP1B	c.1341C>G	NM_005909.5	NP_005900.2:p.(Asp447Glu)	NC_000005.9:g.71490523C>G	VUS	1 lab	8cf3385a95
5:145718788 POU4F3 C>A	5	145718788	145718788	C	A	POU4F3	c.113C>A	NM_002700.3	NP_002691.1:p.(Ala38Asp)	NC_000005.9:g.145718788C>A	(Likely) benign	1 lab	8cf41d3b73
1:197071734 ASPM GTTA>G	1	197071734	197071739	GTTA	G	ASPM	c.6644_6646del	NM_018136.5	NP_060606.3:p.(Ile2215del)	NC_000001.10:g.197071737_197071739del	VUS	1 lab	8cf4d9a8e3
8:21985222 HR G>A	8	21985222	21985222	G	A	HR	c.733C>T	NM_005144.5	NP_005135.2:p.(Arg245Cys)	NC_000008.10:g.21985222G>A	(Likely) benign	1 lab	8cf5808594
2:220354248 SPEG G>A	2	220354248	220354248	G	A	SPEG	c.8508G>A	NM_005876.5	NP_005867.3:p.(Lys2836=)	NC_000002.11:g.220354248G>A	(Likely) benign	1 lab	8cf70dac69
1:226041480 TMEM63A C>G	1	226041480	226041480	C	G	TMEM63A	c.1647G>C	NM_014698.3	NP_055513.2:p.(Leu549=)	NC_000001.10:g.226041480C>G	(Likely) benign	1 lab	8cf8b75946
11:61106876 TKFC G>C	11	61106876	61106876	G	C	TKFC	c.455G>C	NM_015533.4	NP_056348.2:p.(Arg152Pro)	NC_000011.9:g.61106876G>C	VUS	1 lab	8cf92d22a7
5:113740336 KCNN2 A>G	5	113740336	113740336	A	G	KCNN2	c.1420A>G	NM_021614.4	NP_067627.3:p.(Met474Val)	NC_000005.9:g.113740336A>G	VUS	1 lab	8cfae355f7
12:50479294 SMARCD1 C>G	12	50479294	50479294	C	G	SMARCD1	c.142C>G	NM_003076.5	NP_003067.3:p.(Leu48Val)	NC_000012.11:g.50479294C>G	VUS	1 lab	8cfb180b55
19:30206072 C19orf12 A>T	19	30206072	30206072	A	T	C19orf12	c.-51T>A	NM_031448.6	NP_113636.2:p.?	NC_000019.9:g.30206072A>T	VUS	1 lab	8cfcb7e990
19:16204504 TPM4 G>A	19	16204504	16204504	G	A	TPM4	c.605G>A	NM_003290.3	NP_003281.1:p.(Arg202His)	NC_000019.9:g.16204504G>A	VUS	1 lab	8d23399ee1
22:17684517 ADA2 C>T	22	17684517	17684517	C	T	ADA2	c.689G>A	NM_001282225.2	NP_001269154.1:p.(Arg230Gln)	NC_000022.10:g.17684517C>T	(Likely) benign	1 lab	8cfd5a3659
17:42429602 GRN T>C	17	42429602	42429602	T	C	GRN	c.1399T>C	NM_002087.4	NP_002078.1:p.(Cys467Arg)	NC_000017.10:g.42429602T>C	VUS	1 lab	8cffd348a9
2:238303403 COL6A3 T>C	2	238303403	238303403	T	C	COL6A3	c.536A>G	NM_004369.4	NP_004360.2:p.(Asp179Gly)	NC_000002.11:g.238303403T>C	(Likely) benign	1 lab	8d01e9f7e6
19:11310110 DOCK6 G>A	19	11310110	11310110	G	A	DOCK6	c.*63C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11310110G>A	(Likely) benign	1 lab	8d02d8a542
X:36254879 CFAP47 C>T	X	36254879	36254879	C	T	CFAP47	c.7235C>T	NM_001304548.2	NP_001291477.1:p.(Ser2412Leu)	NC_000023.10:g.36254879C>T	(Likely) benign	1 lab	8d03e2cf83
13:23894765 SGCG C>T	13	23894765	23894765	C	T	SGCG	c.579-11C>T	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894765C>T	(Likely) benign	1 lab	8d049cc46b
X:106843700 FRMPD3 C>T	X	106843700	106843700	C	T	FRMPD3	c.2431C>T	NM_001388459.1	NP_001375388.1:p.(Arg811Cys)	NC_000023.10:g.106843700C>T	VUS	1 lab	8d05124880
22:51064355 ARSA C>T	22	51064355	51064355	C	T	ARSA	c.1107+9G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51064355C>T	(Likely) benign	1 lab	8d05440552
8:110510941 PKHD1L1 G>A	8	110510941	110510941	G	A	PKHD1L1	c.10769G>A	NM_177531.6	NP_803875.2:p.(Arg3590Gln)	NC_000008.10:g.110510941G>A	VUS	1 lab	8d0713f1c5
1:11106642 MASP2 G>A	1	11106642	11106642	G	A	MASP2	c.383C>T	NM_006610.4	NP_006601.2:p.(Thr128Met)	NC_000001.10:g.11106642G>A	(Likely) benign	1 lab	2586f91c60
9:140509308 ARRDC1 C>G	9	140509308	140509308	C	G	ARRDC1	c.1093C>G	NM_152285.4	NP_689498.1:p.(Pro365Ala)	NC_000009.11:g.140509308C>G	VUS	1 lab	8d07e66329
2:186664780 FSIP2 G>A	2	186664780	186664780	G	A	FSIP2	c.10747G>A	NM_173651.4	NP_775922.3:p.(Val3583Ile)	NC_000002.11:g.186664780G>A	VUS	1 lab	8d09a29294
12:120195357 CIT G>A	12	120195357	120195357	G	A	CIT	c.2532-8C>T	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120195357G>A	(Likely) benign	1 lab	8d09c74d33
11:71185438 NADSYN1 C>T	11	71185438	71185438	C	T	NADSYN1	c.667-3C>T	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71185438C>T	(Likely) benign	1 lab	8d0a648db6
13:103506116 ERCC5 A>T	13	103506116	103506116	A	T	ERCC5	c.274A>T	NM_000123.4	NP_000114.3:p.(Arg92Trp)	NC_000013.10:g.103506116A>T	VUS	1 lab	8d0aa050d1
5:140050907 WDR55 C>T	5	140050907	140050907	C	T	WDR55	c.*1668C>T	NM_017706.5	NP_060176.3:p.?	NC_000005.9:g.140050907C>T	(Likely) benign	1 lab	8d0ac0460b
X:15301686 ASB11 G>C	X	15301686	15301686	G	C	ASB11	c.913C>G	NM_080873.3	NP_543149.1:p.(Gln305Glu)	NC_000023.10:g.15301686G>C	(Likely) benign	1 lab	8d0b399771
3:158407945 GFM1 A>T	3	158407945	158407945	A	T	GFM1	c.1910-7A>T	NM_024996.7	NP_079272.4:p.?	NC_000003.11:g.158407945A>T	(Likely) benign	1 lab	8d0be79cb6
14:45496585 TOGARAM1 A>G	14	45496585	45496585	A	G	TOGARAM1	c.3412A>G	NM_001308120.2	NP_001295049.1:p.(Ile1138Val)	NC_000014.8:g.45496585A>G	(Likely) benign	1 lab	26e06469af
6:152674824 SYNE1 C>T	6	152674824	152674824	C	T	SYNE1	c.10982G>A	NM_182961.4	NP_892006.3:p.(Arg3661Lys)	NC_000006.11:g.152674824C>T	(Likely) benign	1 lab	8d0c2fcac0
7:21789336 DNAH11 A>G	7	21789336	21789336	A	G	DNAH11	c.8714A>G	NM_001277115.2	NP_001264044.1:p.(Asn2905Ser)	NC_000007.13:g.21789336A>G	VUS	1 lab	8d0e815a66
2:109399196 RANBP2 G>T	2	109399196	109399196	G	T	RANBP2	c.9247G>T	NM_006267.5	NP_006258.3:p.(Glu3083Ter)	NC_000002.11:g.109399196G>T	VUS	1 lab	8d0f2ddfae
17:8380279 MYH10 G>A	17	8380279	8380279	G	A	MYH10	c.5794C>T	NM_001256012.3	NP_001242941.1:p.(Arg1932Cys)	NC_000017.10:g.8380279G>A	VUS	1 lab	8d11001ba8
2:47641559 MSH2 TA>T	2	47641559	47641586	TA	T	MSH2	c.942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641586del	(Likely) benign	1 lab	8d115dbb1c
20:4680489 PRNP G>A	20	4680489	4680489	G	A	PRNP	c.623G>A	NM_000311.5	NP_000302.1:p.(Arg208His)	NC_000020.10:g.4680489G>A	VUS	1 lab	8d123feff5
7:158434184 NCAPG2 T>C	7	158434184	158434184	T	C	NCAPG2	c.3380+2797A>G	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158434184T>C	VUS	1 lab	8d12c32f06
6:168351867 AFDN G>A	6	168351867	168351867	G	A	AFDN	c.3833G>A	NM_001386888.1	NP_001373817.1:p.(Arg1278His)	NC_000006.11:g.168351867G>A	(Likely) benign	1 lab	8d13a3237b
9:96439102 PHF2 G>T	9	96439102	96439102	G	T	PHF2	c.3059G>T	NM_005392.4	NP_005383.3:p.(Ser1020Ile)	NC_000009.11:g.96439102G>T	VUS	1 lab	8d148167b8
9:134349072 PRRC2B C>T	9	134349072	134349072	C	T	PRRC2B	c.2285C>T	NM_013318.4	NP_037450.2:p.(Pro762Leu)	NC_000009.11:g.134349072C>T	VUS	1 lab	8d15715855
2:216285401 FN1 G>A	2	216285401	216285401	G	A	FN1	c.1670C>T	NM_212482.4	NP_997647.2:p.(Pro557Leu)	NC_000002.11:g.216285401G>A	(Likely) benign	1 lab	8d15ffeadb
1:235612073 TBCE G>A	1	235612073	235612073	G	A	TBCE	c.1580G>A	NM_003193.5	NP_003184.1:p.(Trp527Ter)	NC_000001.10:g.235612073G>A	VUS	1 lab	8d161ca44e
17:1303335 YWHAE A>G	17	1303335	1303335	A	G	YWHAE	c.64+6T>C	NM_006761.5	NP_006752.1:p.?	NC_000017.10:g.1303335A>G	(Likely) benign	1 lab	8d16a23043
2:233001274 DIS3L2 C>T	2	233001274	233001274	C	T	DIS3L2	c.795C>T	NM_152383.5	NP_689596.4:p.(Tyr265=)	NC_000002.11:g.233001274C>T	(Likely) benign	1 lab	8d1707d1ea
15:99500588 IGF1R G>A	15	99500588	99500588	G	A	IGF1R	c.4021G>A	NM_000875.5	NP_000866.1:p.(Asp1341Asn)	NC_000015.9:g.99500588G>A	VUS	1 lab	8d17646942
16:2167060 PKD1 G>T	16	2167060	2167060	G	T	PKD1	c.1386-6C>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2167060G>T	VUS	1 lab	8d17aa3c84
1:237656353 RYR2 T>A	1	237656353	237656353	T	A	RYR2	c.1927T>A	NM_001035.3	NP_001026.2:p.(Leu643Ile)	NC_000001.10:g.237656353T>A	VUS	1 lab	8d191367d5
4:103806404 CISD2 T>C	4	103806404	103806404	T	C	CISD2	c.135T>C	NM_001008388.5	NP_001008389.1:p.(Leu45=)	NC_000004.11:g.103806404T>C	(Likely) benign	1 lab	8d19149503
20:947859 RSPO4 G>C	20	947859	947859	G	C	RSPO4	c.367C>G	NM_001029871.4	NP_001025042.2:p.(Pro123Ala)	NC_000020.10:g.947859G>C	(Likely) benign	1 lab	8d1a3c231f
8:54852220 RGS20 G>A	8	54852220	54852220	G	A	RGS20	c.154G>A	NM_003702.5	NP_003693.2:p.(Gly52Arg)	NC_000008.10:g.54852220G>A	VUS	1 lab	8d1b2a7902
9:113252047 SVEP1 C>A	9	113252047	113252047	C	A	SVEP1	c.1813G>T	NM_153366.4	NP_699197.3:p.(Val605Phe)	NC_000009.11:g.113252047C>A	VUS	1 lab	8d1cb93b53
16:11362728 TNP2 C>T	16	11362728	11362728	C	T	TNP2	c.392G>A	NM_005425.5	NP_005416.1:p.(Arg131Gln)	NC_000016.9:g.11362728C>T	VUS	1 lab	8d1d0d18c6
9:36227281 GNE G>A	9	36227281	36227281	G	A	GNE	c.1245C>T	NM_005476.7	NP_005467.1:p.(Gly415=)	NC_000009.11:g.36227281G>A	(Likely) benign	1 lab	8d1eeed600
8:100123328 VPS13B A>G	8	100123328	100123328	A	G	VPS13B	c.583A>G	NM_152564.5	NP_689777.3:p.(Thr195Ala)	NC_000008.10:g.100123328A>G	VUS	1 lab	8d1f35f7c2
3:58087993 FLNB G>A	3	58087993	58087993	G	A	FLNB	c.1409G>A	NM_001457.4	NP_001448.2:p.(Arg470Gln)	NC_000003.11:g.58087993G>A	VUS	1 lab	8d1f8ebd51
11:89073264 NOX4 C>A	11	89073264	89073264	C	A	NOX4	c.1413G>T	NM_016931.5	NP_058627.2:p.(Trp471Cys)	NC_000011.9:g.89073264C>A	VUS	1 lab	8d1fcb87db
9:140728437 EHMT1 GC>G	9	140728437	140728439	GC	G	EHMT1	c.3541-362del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140728439del	(Likely) benign	1 lab	8d213640cc
1:67518477 SLC35D1 G>A	1	67518477	67518477	G	A	SLC35D1	c.301C>T	NM_015139.3	NP_055954.1:p.(Leu101Phe)	NC_000001.10:g.67518477G>A	(Likely) benign	1 lab	8d220672b8
17:40765903 TUBG1 C>T	17	40765903	40765903	C	T	TUBG1	c.730C>T	NM_001070.5	NP_001061.2:p.(Arg244Cys)	NC_000017.10:g.40765903C>T	VUS	1 lab	8d22f85698
6:31729621 MSH5 C>T	6	31729621	31729621	C	T	MSH5	c.2208C>T	NM_172166.4	NP_751898.1:p.(Asn736=)	NC_000006.11:g.31729621C>T	VUS	1 lab	8d2361902d
8:38271243 FGFR1 CCT>C	8	38271243	38271245	CCT	C	FGFR1	c.2370_2371del	NM_023110.3	NP_075598.2:p.(Glu792GlyfsTer7)	NC_000008.10:g.38271244_38271245del	VUS	1 lab	8d23935483
16:58076252 MMP15 G>A	16	58076252	58076252	G	A	MMP15	c.1282G>A	NM_002428.4	NP_002419.1:p.(Gly428Ser)	NC_000016.9:g.58076252G>A	VUS	1 lab	8d23f373ed
2:179629334 TTN G>A	2	179629334	179629334	G	A	TTN	c.9908C>T	NM_001267550.2	NP_001254479.2:p.(Pro3303Leu)	NC_000002.11:g.179629334G>A	VUS	1 lab	8d25c1a9b6
14:65008111 HSPA2 A>C	14	65008111	65008111	A	C	HSPA2	c.544A>C	NM_021979.4	NP_068814.2:p.(Ile182Leu)	NC_000014.8:g.65008111A>C	VUS	1 lab	8d2d3a1cad
19:40362992 FCGBP C>G	19	40362992	40362992	C	G	FCGBP	c.15078G>C	NM_003890.3	NP_003881.2:p.(Glu5026Asp)	NC_000019.9:g.40362992C>G	(Likely) benign	1 lab	8d2f84292d
15:89398948 ACAN TG>T	15	89398948	89398950	TG	T	ACAN	c.3134del	NM_001369268.1	NP_001356197.1:p.(Gly1045GlufsTer2)	NC_000015.9:g.89398950del	VUS	1 lab	8d3098e8d6
8:100789190 VPS13B C>T	8	100789190	100789190	C	T	VPS13B	c.7429+6C>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100789190C>T	(Likely) benign	1 lab	8d30c22b70
17:78184959 SGSH G>A	17	78184959	78184959	G	A	SGSH	c.950-149C>T	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78184959G>A	(Likely) benign	1 lab	8d32018aeb
3:132437919 NPHP3 G>A	3	132437919	132437919	G	A	NPHP3	c.589C>T	NM_153240.5	NP_694972.3:p.(Leu197Phe)	NC_000003.11:g.132437919G>A	VUS	1 lab	8d3286d1f4
11:1016887 MUC6 G>A	11	1016887	1016887	G	A	MUC6	c.5914C>T	NM_005961.3	NP_005952.2:p.(Pro1972Ser)	NC_000011.9:g.1016887G>A	(Likely) benign	1 lab	8d330d5a95
16:72822586 ZFHX3 G>GCT	16	72822586	72822587	G	GCT	ZFHX3	c.9588_9589insAG	NM_006885.4	NP_008816.3:p.(Gln3197SerfsTer45)	NC_000016.9:g.72822586_72822587insCT	VUS	1 lab	8d346a2962
21:27394367 APP G>T	21	27394367	27394367	G	T	APP	c.663-9C>A	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27394367G>T	(Likely) benign	1 lab	8d3533f4a3
9:13138146 MPDZ A>G	9	13138146	13138146	A	G	MPDZ	c.4010T>C	NM_001378778.1	NP_001365707.1:p.(Ile1337Thr)	NC_000009.11:g.13138146A>G	VUS	1 lab	8d377b6873
4:175416742 HPGD CA>C	4	175416742	175416744	CA	C	HPGD	c.454del	NM_000860.6	NP_000851.2:p.(Cys152ValfsTer7)	NC_000004.11:g.175416744del	(Likely) pathogenic	1 lab	8d391397e2
8:19363102 CSGALNACT1 G>A	8	19363102	19363102	G	A	CSGALNACT1	c.244C>T	NM_001354483.2	NP_001341412.1:p.(Leu82Phe)	NC_000008.10:g.19363102G>A	VUS	1 lab	8d39190300
1:54417796 LRRC42 A>G	1	54417796	54417796	A	G	LRRC42	c.124A>G	NM_001256409.2	NP_001243338.1:p.(Arg42Gly)	NC_000001.10:g.54417796A>G	VUS	1 lab	8d397d824a
6:117681119 ROS1 T>TA	6	117681119	117681126	T	TA	ROS1	c.3485dup	NM_001378902.1	NP_001365831.1:p.(Leu1162PhefsTer26)	NC_000006.11:g.117681126dup	VUS	1 lab	8d399010d4
2:163144647 IFIH1 T>C	2	163144647	163144647	T	C	IFIH1	c.1093A>G	NM_022168.4	NP_071451.2:p.(Lys365Glu)	NC_000002.11:g.163144647T>C	(Likely) benign	1 lab	8d3a59fca6
12:113316971 RPH3A A>G	12	113316971	113316971	A	G	RPH3A	c.1219A>G	NM_001143854.2	NP_001137326.1:p.(Ser407Gly)	NC_000012.11:g.113316971A>G	VUS	1 lab	8d3ae682ad
19:18260214 MAST3 C>T	19	18260214	18260214	C	T	MAST3	c.3722C>T	NM_001393504.1	NP_001380433.1:p.(Ser1241Leu)	NC_000019.9:g.18260214C>T	VUS	1 lab	8d3be17178
16:817388 MSLN C>T	16	817388	817388	C	T	MSLN	c.1514C>T	NM_005823.6	NP_005814.2:p.(Thr505Met)	NC_000016.9:g.817388C>T	VUS	1 lab	8d3d21958b
10:79614054 DLG5 C>T	10	79614054	79614054	C	T	DLG5	c.611G>A	NM_004747.4	NP_004738.3:p.(Ser204Asn)	NC_000010.10:g.79614054C>T	VUS	1 lab	8d3d845e14
15:43378426 UBR1 G>A	15	43378426	43378426	G	A	UBR1	c.94C>T	NM_174916.3	NP_777576.1:p.(Gln32Ter)	NC_000015.9:g.43378426G>A	(Likely) pathogenic	1 lab	26e2aa9bbb
6:51882397 PKHD1 C>T	6	51882397	51882397	C	T	PKHD1	c.5411G>A	NM_138694.4	NP_619639.3:p.(Arg1804His)	NC_000006.11:g.51882397C>T	(Likely) benign	1 lab	8d40abf582
17:15902969 ZSWIM7 C>A	17	15902969	15902969	C	A	ZSWIM7	c.-61G>T	NM_001042697.2	NP_001036162.1:p.?	NC_000017.10:g.15902969C>A	(Likely) benign	1 lab	8d40ca485a
X:13779315 OFD1 C>T	X	13779315	13779315	C	T	OFD1	c.2372C>T	NM_003611.3	NP_003602.1:p.(Pro791Leu)	NC_000023.10:g.13779315C>T	VUS	1 lab	8d41f9d670
22:41863530 PHF5A CT>C	22	41863530	41863531	CT	C	PHF5A	c.164del	NM_032758.4	NP_116147.1:p.(Gln55ArgfsTer5)	NC_000022.10:g.41863531del	(Likely) pathogenic	1 lab	8d444ed6db
17:74004600 EVPL C>A	17	74004600	74004600	C	A	EVPL	c.4686G>T	NM_001988.4	NP_001979.2:p.(Glu1562Asp)	NC_000017.10:g.74004600C>A	VUS	1 lab	8d4472541d
5:139494458 PURA T>C	5	139494458	139494458	T	C	PURA	c.692T>C	NM_005859.5	NP_005850.1:p.(Phe231Ser)	NC_000005.9:g.139494458T>C	(Likely) pathogenic	1 lab	8d451c973d
6:157099423 ARID1B GCAA>G	6	157099423	157099428	GCAA	G	ARID1B	c.612_614del	NM_001374828.1	NP_001361757.1:p.(Gln214del)	NC_000006.11:g.157099426_157099428del	VUS	1 lab	8d45afeca3
1:108686574 SLC25A24 G>C	1	108686574	108686574	G	C	SLC25A24	c.931-242C>G	NM_013386.5	NP_037518.3:p.?	NC_000001.10:g.108686574G>C	(Likely) benign	1 lab	8d474689e0
15:34040699 RYR3 C>G	15	34040699	34040699	C	G	RYR3	c.8167C>G	NM_001036.6	NP_001027.3:p.(Leu2723Val)	NC_000015.9:g.34040699C>G	VUS	1 lab	8d4821fba5
7:146805369 CNTNAP2 C>A	7	146805369	146805369	C	A	CNTNAP2	c.681C>A	NM_014141.6	NP_054860.1:p.(His227Gln)	NC_000007.13:g.146805369C>A	(Likely) benign	1 lab	8d483c8535
17:41348609 NBR1 G>A	17	41348609	41348609	G	A	NBR1	c.1861+1G>A	NM_005899.5	NP_005890.2:p.?	NC_000017.10:g.41348609G>A	VUS	1 lab	8d4913a79d
3:155571558 SLC33A1 G>C	3	155571558	155571558	G	C	SLC33A1	c.229C>G	NM_004733.4	NP_004724.1:p.(Leu77Val)	NC_000003.11:g.155571558G>C	VUS	1 lab	8d49af2b73
18:19756982 GATA6 G>A	18	19756982	19756982	G	A	GATA6	c.1202G>A	NM_005257.6	NP_005248.2:p.(Trp401Ter)	NC_000018.9:g.19756982G>A	(Likely) pathogenic	1 lab	8d49b2b84d
4:5733206 EVC G>C	4	5733206	5733206	G	C	EVC	c.439G>C	NM_153717.3	NP_714928.1:p.(Val147Leu)	NC_000004.11:g.5733206G>C	VUS	1 lab	8d4e1ec807
17:65822375 BPTF A>G	17	65822375	65822375	A	G	BPTF	c.535A>G	NM_182641.4	NP_872579.2:p.(Met179Val)	NC_000017.10:g.65822375A>G	(Likely) benign	1 lab	8d4ff9b322
X:140994424 MAGEC1 A>G	X	140994424	140994424	A	G	MAGEC1	c.1234A>G	NM_005462.5	NP_005453.2:p.(Met412Val)	NC_000023.10:g.140994424A>G	VUS	1 lab	8d50e9e9b2
18:6949138 LAMA1 C>T	18	6949138	6949138	C	T	LAMA1	c.8518G>A	NM_005559.4	NP_005550.2:p.(Gly2840Ser)	NC_000018.9:g.6949138C>T	VUS	1 lab	8d54f86856
3:150911350 MED12L G>T	3	150911350	150911350	G	T	MED12L	c.2147G>T	NM_001393769.1	NP_001380698.1:p.(Cys716Phe)	NC_000003.11:g.150911350G>T	VUS	1 lab	8d55439466
22:38642080 TMEM184B G>C	22	38642080	38642080	G	C	TMEM184B	c.219C>G	NM_012264.5	NP_036396.2:p.(Ser73Arg)	NC_000022.10:g.38642080G>C	VUS	1 lab	8d55973681
4:1956252 NSD2 A>AT	4	1956252	1956259	A	AT	NSD2	c.2339-629dup	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1956259dup	(Likely) benign	1 lab	8d55ad6c01
4:1936900 NSD2 A>C	4	1936900	1936900	A	C	NSD2	c.1585A>C	NM_001042424.3	NP_001035889.1:p.(Thr529Pro)	NC_000004.11:g.1936900A>C	(Likely) benign	1 lab	8d5a339ce7
3:47887202 DHX30 G>A	3	47887202	47887202	G	A	DHX30	c.952G>A	NM_138615.3	NP_619520.1:p.(Val318Met)	NC_000003.11:g.47887202G>A	(Likely) benign	1 lab	8d5bdd5bb1
17:17697058 RAI1 C>T	17	17697058	17697058	C	T	RAI1	c.796C>T	NM_030665.4	NP_109590.3:p.(Leu266Phe)	NC_000017.10:g.17697058C>T	(Likely) benign	1 lab	8d5cad6230
7:78130817 MAGI2 C>T	7	78130817	78130817	C	T	MAGI2	c.965+77G>A	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.78130817C>T	(Likely) benign	1 lab	26e4a708be
19:18899110 COMP G>C	19	18899110	18899110	G	C	COMP	c.886C>G	NM_000095.3	NP_000086.2:p.(Pro296Ala)	NC_000019.9:g.18899110G>C	VUS	1 lab	8d677a9b40
1:94506871 ABCA4 T>C	1	94506871	94506871	T	C	ABCA4	c.3416A>G	NM_000350.3	NP_000341.2:p.(Tyr1139Cys)	NC_000001.10:g.94506871T>C	VUS	1 lab	8d67b5b4c3
11:76901191 MYO7A G>A	11	76901191	76901191	G	A	MYO7A	c.3750+7G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76901191G>A	(Likely) benign	1 lab	8d681619d0
16:72829973 ZFHX3 C>T	16	72829973	72829973	C	T	ZFHX3	c.6608G>A	NM_006885.4	NP_008816.3:p.(Arg2203His)	NC_000016.9:g.72829973C>T	VUS	1 lab	8d6c72ff96
22:50301559 ALG12 G>C	22	50301559	50301559	G	C	ALG12	c.802C>G	NM_024105.4	NP_077010.1:p.(Leu268Val)	NC_000022.10:g.50301559G>C	VUS	1 lab	8d6d4e3ef3
1:202565912 SYT2 C>T	1	202565912	202565912	C	T	SYT2	c.1233G>A	NM_177402.5	NP_796376.2:p.(Val411=)	NC_000001.10:g.202565912C>T	VUS	1 lab	8d6d980f90
20:31375045 DNMT3B C>T	20	31375045	31375045	C	T	DNMT3B	c.442C>T	NM_006892.4	NP_008823.1:p.(Arg148Trp)	NC_000020.10:g.31375045C>T	VUS	1 lab	8d6ecbd759
2:240982309 MISSING C>T	2	240982309	240982309	C	T	MISSING				NC_000002.11:g.240982309C>T	VUS	1 lab	8d70202a4c
19:17397381 ANKLE1 C>A	19	17397381	17397381	C	A	ANKLE1	c.*20C>A	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397381C>A	(Likely) benign	1 lab	8d717ad7bc
2:73115466 SPR G>C	2	73115466	73115466	G	C	SPR	c.328G>C	NM_003124.5	NP_003115.1:p.(Gly110Arg)	NC_000002.11:g.73115466G>C	(Likely) benign	1 lab	8d719f719d
16:88496997 ZNF469 A>C	16	88496997	88496997	A	C	ZNF469	c.3119A>C	NM_001367624.2	NP_001354553.1:p.(Lys1040Thr)	NC_000016.9:g.88496997A>C	VUS	1 lab	8d71c2a4ea
9:2039783 SMARCA2 CAG>C	9	2039783	2039785	CAG	C	SMARCA2	c.674_675del	NM_003070.5	NP_003061.3:p.(Gln225ProfsTer33)	NC_000009.11:g.2039784_2039785del	(Likely) benign	1 lab	8d7519130f
17:7810552 CHD3 A>G	17	7810552	7810552	A	G	CHD3	c.4775A>G	NM_001005273.3	NP_001005273.1:p.(Lys1592Arg)	NC_000017.10:g.7810552A>G	(Likely) benign	1 lab	8d77413a26
4:88537096 DSPP T>TGACAGCAGTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGC	4	88537096	88537105	T	TGACAGCAGTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGC	DSPP	c.3290_3291insTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAG	NM_014208.3	NP_055023.2:p.(Ser1097_Asp1098insGluSerSerAspSerSerAspSerSerAspSerSerAspSerSer)	NC_000004.11:g.88537104_88537105insTGAAAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAG	(Likely) benign	1 lab	8d7771abfd
4:111542533 PITX2 C>G	4	111542533	111542533	C	G	PITX2	c.206-8G>C	NM_000325.6	NP_000316.2:p.?	NC_000004.11:g.111542533C>G	(Likely) benign	1 lab	8d777e8134
3:119133239 ARHGAP31 G>C	3	119133239	119133239	G	C	ARHGAP31	c.2463G>C	NM_020754.4	NP_065805.2:p.(Gln821His)	NC_000003.11:g.119133239G>C	(Likely) benign	1 lab	8d77acf01e
2:88870404 EIF2AK3 C>T	2	88870404	88870404	C	T	EIF2AK3	c.2973G>A	NM_004836.7	NP_004827.4:p.(Met991Ile)	NC_000002.11:g.88870404C>T	VUS	1 lab	8d782982d1
12:51019807 DIP2B C>T	12	51019807	51019807	C	T	DIP2B	c.149C>T	NM_173602.3	NP_775873.2:p.(Ser50Phe)	NC_000012.11:g.51019807C>T	(Likely) benign	1 lab	8d7961dd7f
16:86601947 FOXC2 A>T	16	86601947	86601947	A	T	FOXC2	c.1006A>T	NM_005251.3	NP_005242.1:p.(Met336Leu)	NC_000016.9:g.86601947A>T	VUS	1 lab	8d7b581a52
5:149771532 TCOF1 G>A	5	149771532	149771532	G	A	TCOF1	c.3310G>A	NM_001371623.1	NP_001358552.1:p.(Val1104Met)	NC_000005.9:g.149771532G>A	(Likely) benign	1 lab	8d7bb39ef2
2:27684212 IFT172 C>T	2	27684212	27684212	C	T	IFT172	c.2366G>A	NM_015662.3	NP_056477.1:p.(Arg789Gln)	NC_000002.11:g.27684212C>T	(Likely) benign	1 lab	8d7bc35549
X:50051569 CCNB3 C>A	X	50051569	50051569	C	A	CCNB3	c.400C>A	NM_033031.3	NP_149020.2:p.(Pro134Thr)	NC_000023.10:g.50051569C>A	VUS	1 lab	8d7d0232c8
16:2165982 PKD1 CAGAGT>C	16	2165982	2165987	CAGAGT	C	PKD1	c.1849+6_1849+10del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2165983_2165987del	VUS	1 lab	8d7d2dcca3
7:65444856 GUSB G>A	7	65444856	65444856	G	A	GUSB	c.439C>T	NM_000181.4	NP_000172.2:p.(Leu147Phe)	NC_000007.13:g.65444856G>A	VUS	1 lab	8d7d9644f6
17:7340755 TMEM102 C>A	17	7340755	7340755	C	A	TMEM102	c.1457C>A	NM_178518.3	NP_848613.1:p.(Ala486Asp)	NC_000017.10:g.7340755C>A	(Likely) benign	1 lab	8d80c2f7f0
7:16298032 CRPPA G>A	7	16298032	16298032	G	A	CRPPA	c.1102C>T	NM_001101426.4	NP_001094896.1:p.(Pro368Ser)	NC_000007.13:g.16298032G>A	VUS	1 lab	8d80c7a8a3
18:7024406 LAMA1 G>T	18	7024406	7024406	G	T	LAMA1	c.2462C>A	NM_005559.4	NP_005550.2:p.(Pro821Gln)	NC_000018.9:g.7024406G>T	(Likely) benign	1 lab	8d82fffa07
13:77663030 MYCBP2 T>G	13	77663030	77663030	T	G	MYCBP2	c.10662A>C	NM_015057.5	NP_055872.4:p.(Glu3554Asp)	NC_000013.10:g.77663030T>G	VUS	1 lab	8d831b8687
17:40483520 STAT3 T>C	17	40483520	40483520	T	C	STAT3	c.1079A>G	NM_139276.2	NP_644805.1:p.(Tyr360Cys)	NC_000017.10:g.40483520T>C	(Likely) pathogenic	1 lab	26ec652195
1:108681829 SLC25A24 A>G	1	108681829	108681829	A	G	SLC25A24	c.1100T>C	NM_013386.5	NP_037518.3:p.(Leu367Pro)	NC_000001.10:g.108681829A>G	VUS	1 lab	8d85adaf77
5:122426029 PRDM6 G>A	5	122426029	122426029	G	A	PRDM6	c.320G>A	NM_001136239.4	NP_001129711.1:p.(Gly107Asp)	NC_000005.9:g.122426029G>A	VUS	1 lab	8d869be512
18:77227554 NFATC1 C>T	18	77227554	77227554	C	T	NFATC1	c.2064C>T	NM_001278669.2	NP_001265598.1:p.(Tyr688=)	NC_000018.9:g.77227554C>T	(Likely) benign	1 lab	8d87f398da
17:33430453 RAD51D G>A	17	33430453	33430453	G	A	RAD51D	c.667+20C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33430453G>A	(Likely) benign	1 lab	8d88f96098
7:99764423 GAL3ST4 G>C	7	99764423	99764423	G	C	GAL3ST4	c.131C>G	NM_024637.5	NP_078913.3:p.(Pro44Arg)	NC_000007.13:g.99764423G>C	VUS	1 lab	8d8a95626a
1:26365782 SLC30A2 C>T	1	26365782	26365782	C	T	SLC30A2	c.988G>A	NM_001004434.3	NP_001004434.1:p.(Ala330Thr)	NC_000001.10:g.26365782C>T	VUS	1 lab	8d8ad8ec0f
8:144997252 PLEC C>T	8	144997252	144997252	C	T	PLEC	c.6845G>A	NM_201384.3	NP_958786.1:p.(Arg2282Gln)	NC_000008.10:g.144997252C>T	VUS	1 lab	8d8b7b960e
1:44475722 SLC6A9 G>C	1	44475722	44475722	G	C	SLC6A9	c.234C>G	NM_001024845.3	NP_001020016.1:p.(Ile78Met)	NC_000001.10:g.44475722G>C	VUS	1 lab	8d8bb698c6
19:47260143 FKRP A>G	19	47260143	47260143	A	G	FKRP	c.1436A>G	NM_024301.5	NP_077277.1:p.(Glu479Gly)	NC_000019.9:g.47260143A>G	VUS	1 lab	8d8c8d2a75
10:72643763 PCBD1 C>A	10	72643763	72643763	C	A	PCBD1	c.259G>T	NM_000281.4	NP_000272.1:p.(Glu87Ter)	NC_000010.10:g.72643763C>A	(Likely) pathogenic	1 lab	8d8e412c68
15:77317679 PSTPIP1 G>A	15	77317679	77317679	G	A	PSTPIP1	c.247+20G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77317679G>A	(Likely) benign	1 lab	26ee8c34d4
2:112550054 ANAPC1 G>C	2	112550054	112550054	G	C	ANAPC1	c.4597C>G	NM_022662.4	NP_073153.1:p.(Leu1533Val)	NC_000002.11:g.112550054G>C	VUS	1 lab	8d914241ad
19:50902688 POLD1 ACCCC>A	19	50902688	50902693	ACCCC	A	POLD1	c.265_268del	NM_002691.4	NP_002682.2:p.(Pro89ArgfsTer79)	NC_000019.9:g.50902690_50902693del	VUS	1 lab	8d919b94dc
19:55677710 DNAAF3 G>T	19	55677710	55677710	G	T	DNAAF3	c.72C>A	NM_001256715.2	NP_001243644.1:p.(Asp24Glu)	NC_000019.9:g.55677710G>T	VUS	1 lab	8d91b4b5bb
12:122295311 HPD C>T	12	122295311	122295311	C	T	HPD	c.121G>A	NM_002150.3	NP_002141.2:p.(Gly41Ser)	NC_000012.11:g.122295311C>T	VUS	1 lab	8d92db73fa
15:42684875 CAPN3 CGGGCTGGTCAGAGGTCACGCCTACTCTGTCACG>C	15	42684875	42684915	CGGGCTGGTCAGAGGTCACGCCTACTCTGTCACG	C	CAPN3	c.992_1024del	NM_000070.3	NP_000061.1:p.(Val331_Leu341del)	NC_000015.9:g.42684883_42684915del	(Likely) pathogenic	1 lab	8d93dc819b
3:172163211 GHSR C>T	3	172163211	172163211	C	T	GHSR	c.841G>A	NM_198407.2	NP_940799.1:p.(Val281Ile)	NC_000003.11:g.172163211C>T	VUS	1 lab	8d943dc593
6:51944755 PKHD1 G>A	6	51944755	51944755	G	A	PKHD1	c.333C>T	NM_138694.4	NP_619639.3:p.(Phe111=)	NC_000006.11:g.51944755G>A	(Likely) benign	1 lab	8d947e609d
22:19468497 CDC45 G>A	22	19468497	19468497	G	A	CDC45	c.133G>A	NM_003504.5	NP_003495.1:p.(Val45Met)	NC_000022.10:g.19468497G>A	VUS	1 lab	8d9566744e
3:7503408 GRM7 A>G	3	7503408	7503408	A	G	GRM7	c.1514A>G	NM_000844.4	NP_000835.1:p.(Asn505Ser)	NC_000003.11:g.7503408A>G	VUS	1 lab	8d95716649
19:1468896 APC2 G>A	19	1468896	1468896	G	A	APC2	c.5596G>A	NM_005883.3	NP_005874.1:p.(Ala1866Thr)	NC_000019.9:g.1468896G>A	VUS	1 lab	8d95ae4ad0
2:179484808 TTN T>C	2	179484808	179484808	T	C	TTN	c.46336A>G	NM_001267550.2	NP_001254479.2:p.(Arg15446Gly)	NC_000002.11:g.179484808T>C	VUS	1 lab	8d95e0ee83
12:88477009 CEP290 T>C	12	88477009	88477009	T	C	CEP290	c.4813-2A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88477009T>C	(Likely) pathogenic	1 lab	8d96c8affb
19:12814248 TNPO2 G>T	19	12814248	12814248	G	T	TNPO2	c.2203C>A	NM_001382241.1	NP_001369170.1:p.(Gln735Lys)	NC_000019.9:g.12814248G>T	(Likely) benign	1 lab	8d97bd9ffc
9:140057156 GRIN1 C>T	9	140057156	140057156	C	T	GRIN1	c.1978C>T	NM_007327.4	NP_015566.1:p.(Pro660Ser)	NC_000009.11:g.140057156C>T	(Likely) pathogenic	1 lab	8d985c5239
14:33292169 AKAP6 C>G	14	33292169	33292169	C	G	AKAP6	c.5150C>G	NM_004274.5	NP_004265.3:p.(Ser1717Trp)	NC_000014.8:g.33292169C>G	(Likely) benign	1 lab	8d98b75413
17:18041519 MYO15A G>A	17	18041519	18041519	G	A	MYO15A	c.4966G>A	NM_016239.4	NP_057323.3:p.(Gly1656Ser)	NC_000017.10:g.18041519G>A	VUS	1 lab	8d9c0ad12c
1:47770660 STIL G>C	1	47770660	47770660	G	C	STIL	c.53C>G	NM_001048166.1	NP_001041631.1:p.(Ser18Ter)	NC_000001.10:g.47770660G>C	VUS	1 lab	8d9c9807f1
16:75269448 BCAR1 C>A	16	75269448	75269448	C	A	BCAR1	c.1487G>T	NM_001170714.3	NP_001164185.1:p.(Gly496Val)	NC_000016.9:g.75269448C>A	(Likely) benign	1 lab	26f0b75dea
14:67346733 GPHN C>A	14	67346733	67346733	C	A	GPHN	c.371C>A	NM_020806.5	NP_065857.1:p.(Pro124His)	NC_000014.8:g.67346733C>A	VUS	1 lab	8d9cd13287
X:38013836 SRPX G>T	X	38013836	38013836	G	T	SRPX	c.1090C>A	NM_006307.5	NP_006298.1:p.(Gln364Lys)	NC_000023.10:g.38013836G>T	VUS	1 lab	8daaa56dfd
6:86324563 SYNCRIP G>A	6	86324563	86324563	G	A	SYNCRIP	c.1783C>T	NM_006372.5	NP_006363.4:p.(Leu595Phe)	NC_000006.11:g.86324563G>A	(Likely) benign	1 lab	8d9d2a1a80
22:21900671 RIMBP3C G>A	22	21900671	21900671	G	A	RIMBP3C	c.4595C>T	NM_001128633.2	NP_001122105.1:p.(Pro1532Leu)	NC_000022.10:g.21900671G>A	(Likely) benign	1 lab	8d9d877939
5:154271017 GEMIN5 CCTT>C	5	154271017	154271025	CCTT	C	GEMIN5	c.4043_4045del	NM_015465.5	NP_056280.2:p.(Glu1348del)	NC_000005.9:g.154271023_154271025del	VUS	1 lab	8d9da17285
12:124914212 NCOR2 C>T	12	124914212	124914212	C	T	NCOR2	c.1096G>A	NM_006312.6	NP_006303.4:p.(Ala366Thr)	NC_000012.11:g.124914212C>T	VUS	1 lab	8d9dad0847
19:20807499 ZNF626 T>C	19	20807499	20807499	T	C	ZNF626	c.1184A>G	NM_001076675.3	NP_001070143.1:p.(Lys395Arg)	NC_000019.9:g.20807499T>C	VUS	1 lab	8da0275c3d
15:33603271 RYR3 G>C	15	33603271	33603271	G	C	RYR3	c.25G>C	NM_001036.6	NP_001027.3:p.(Glu9Gln)	NC_000015.9:g.33603271G>C	(Likely) benign	1 lab	8da02b17f0
17:80043524 FASN A>G	17	80043524	80043524	A	G	FASN	c.3956T>C	NM_004104.5	NP_004095.4:p.(Val1319Ala)	NC_000017.10:g.80043524A>G	VUS	1 lab	8da04ed81f
2:29297091 PCARE T>A	2	29297091	29297091	T	A	PCARE	c.37A>T	NM_001029883.3	NP_001025054.1:p.(Ser13Cys)	NC_000002.11:g.29297091T>A	(Likely) benign	1 lab	8da0cdee44
11:1464870 BRSK2 G>C	11	1464870	1464870	G	C	BRSK2	c.780+5G>C	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1464870G>C	VUS	1 lab	8da0e25b3f
19:19822366 ZNF14 C>T	19	19822366	19822366	C	T	ZNF14	c.1724G>A	NM_021030.3	NP_066358.2:p.(Arg575Gln)	NC_000019.9:g.19822366C>T	(Likely) benign	1 lab	8da10896dc
10:96100254 NOC3L C>CT	10	96100254	96100257	C	CT	NOC3L	c.1645-2dup	NM_022451.11	NP_071896.8:p.?	NC_000010.10:g.96100257dup	(Likely) benign	1 lab	8da2752d0e
8:101724625 PABPC1 CTT>C	8	101724625	101724628	CTT	C	PABPC1	c.935_936del	NM_002568.4	NP_002559.2:p.(Lys312ArgfsTer10)	NC_000008.10:g.101724627_101724628del	VUS	1 lab	8da3b98c73
16:88786301 PIEZO1 C>T	16	88786301	88786301	C	T	PIEZO1	c.6232G>A	NM_001142864.4	NP_001136336.2:p.(Ala2078Thr)	NC_000016.9:g.88786301C>T	VUS	1 lab	8da4b46954
5:141041311 ARAP3 A>G	5	141041311	141041311	A	G	ARAP3	c.3059T>C	NM_022481.6	NP_071926.4:p.(Ile1020Thr)	NC_000005.9:g.141041311A>G	VUS	1 lab	8da4d43e6d
13:110815816 COL4A1 G>T	13	110815816	110815816	G	T	COL4A1	c.4243C>A	NM_001845.6	NP_001836.3:p.(Pro1415Thr)	NC_000013.10:g.110815816G>T	VUS	1 lab	8da5b2ec91
16:70515778 COG4 G>C	16	70515778	70515778	G	C	COG4	c.2005-10C>G	NM_015386.3	NP_056201.2:p.?	NC_000016.9:g.70515778G>C	(Likely) benign	1 lab	8da6d1acd4
13:100622675 ZIC5 G>C	13	100622675	100622675	G	C	ZIC5	c.1183C>G	NM_033132.5	NP_149123.3:p.(Pro395Ala)	NC_000013.10:g.100622675G>C	(Likely) benign	1 lab	8dab98489b
19:15271957 NOTCH3 C>T	19	15271957	15271957	C	T	NOTCH3	c.6482G>A	NM_000435.3	NP_000426.2:p.(Gly2161Asp)	NC_000019.9:g.15271957C>T	VUS	1 lab	8db0e1aac8
6:41129279 TREM2 T>C	6	41129279	41129279	T	C	TREM2	c.113A>G	NM_018965.4	NP_061838.1:p.(Tyr38Cys)	NC_000006.11:g.41129279T>C	(Likely) pathogenic	1 lab	8db1ee3c91
6:44272932 AARS2 G>A	6	44272932	44272932	G	A	AARS2	c.1438C>T	NM_020745.4	NP_065796.2:p.(Arg480Trp)	NC_000006.11:g.44272932G>A	VUS	1 lab	8db22c7f37
9:134001048 NUP214 G>A	9	134001048	134001048	G	A	NUP214	c.-44G>A	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134001048G>A	(Likely) benign	1 lab	8db34e0569
18:29446850 TRAPPC8 G>C	18	29446850	29446850	G	C	TRAPPC8	c.2552C>G	NM_014939.5	NP_055754.3:p.(Thr851Arg)	NC_000018.9:g.29446850G>C	VUS	1 lab	8db395a9b8
9:136307559 ADAMTS13 C>T	9	136307559	136307559	C	T	ADAMTS13	c.2008C>T	NM_139027.6	NP_620596.2:p.(Arg670Cys)	NC_000009.11:g.136307559C>T	(Likely) benign	1 lab	8db50d1d1c
7:69906384 AUTS2 T>TA	7	69906384	69906385	T	TA	AUTS2	c.690+5617_690+5618insA	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69906384_69906385insA	(Likely) benign	1 lab	8db64c11be
6:24785865 GMNN G>C	6	24785865	24785865	G	C	GMNN	c.469-1G>C	NM_015895.5	NP_056979.1:p.?	NC_000006.11:g.24785865G>C	VUS	1 lab	8db84af608
16:51173224 SALL1 A>G	16	51173224	51173224	A	G	SALL1	c.2909T>C	NM_002968.3	NP_002959.2:p.(Leu970Ser)	NC_000016.9:g.51173224A>G	VUS	1 lab	8dba0e3b9c
19:51848616 ETFB ATCT>A	19	51848616	51848629	ATCT	A	ETFB	c.614_616del	NM_001985.3	NP_001976.1:p.(Lys205del)	NC_000019.9:g.51848627_51848629del	(Likely) pathogenic	1 lab	258a09596a
16:3299602 MEFV G>A	16	3299602	3299602	G	A	MEFV	c.1089C>T	NM_000243.2	NP_000234.1:p.(Ser363=)	NC_000016.9:g.3299602G>A	(Likely) benign	1 lab	26f3d34d04
16:72832395 ZFHX3 G>A	16	72832395	72832395	G	A	ZFHX3	c.4186C>T	NM_006885.4	NP_008816.3:p.(Arg1396Cys)	NC_000016.9:g.72832395G>A	VUS	1 lab	8dc0c145f1
11:108141795 ATM T>A	11	108141795	108141795	T	A	ATM	c.2843T>A	NM_000051.4	NP_000042.3:p.(Leu948Gln)	NC_000011.9:g.108141795T>A	VUS	1 lab	8dc2c50caf
16:89805373 FANCA C>A	16	89805373	89805373	C	A	FANCA	c.4177G>T	NM_000135.4	NP_000126.2:p.(Val1393Leu)	NC_000016.9:g.89805373C>A	(Likely) benign	1 lab	8dc354d4a2
X:103495063 ESX1 G>C	X	103495063	103495063	G	C	ESX1	c.1067C>G	NM_153448.4	NP_703149.1:p.(Pro356Arg)	NC_000023.10:g.103495063G>C	VUS	1 lab	8dc38b870f
3:12447429 PPARG C>T	3	12447429	12447429	C	T	PPARG	c.578C>T	NM_138711.6	NP_619725.3:p.(Ala193Val)	NC_000003.11:g.12447429C>T	(Likely) benign	1 lab	8dc40d13e0
6:86324523 SYNCRIP G>C	6	86324523	86324523	G	C	SYNCRIP	c.1823C>G	NM_006372.5	NP_006363.4:p.(Ser608Cys)	NC_000006.11:g.86324523G>C	VUS	1 lab	8dc5e8c878
9:40702678 SPATA31A3 G>T	9	40702678	40702678	G	T	SPATA31A3	c.335G>T	NM_001083124.1	NP_001076593.1:p.(Gly112Val)	NC_000009.11:g.40702678G>T	VUS	1 lab	8dc8154ce6
2:20205792 MATN3 G>T	2	20205792	20205792	G	T	MATN3	c.503C>A	NM_002381.5	NP_002372.1:p.(Thr168Lys)	NC_000002.11:g.20205792G>T	(Likely) benign	1 lab	8dc82dad50
17:30303579 SUZ12 G>C	17	30303579	30303579	G	C	SUZ12	c.863G>C	NM_015355.4	NP_056170.2:p.(Arg288Pro)	NC_000017.10:g.30303579G>C	VUS	1 lab	258d3a7230
12:46205333 ARID2 G>A	12	46205333	46205333	G	A	ARID2	c.417G>A	NM_152641.4	NP_689854.2:p.(Ser139=)	NC_000012.11:g.46205333G>A	(Likely) benign	1 lab	8dc97beeb9
6:87966523 ZNF292 A>G	6	87966523	87966523	A	G	ZNF292	c.3176A>G	NM_015021.3	NP_055836.1:p.(Asn1059Ser)	NC_000006.11:g.87966523A>G	(Likely) benign	1 lab	8dc9b4f1dc
2:44028839 DYNC2LI1 G>A	2	44028839	44028839	G	A	DYNC2LI1	c.793G>A	NM_016008.4	NP_057092.2:p.(Gly265Ser)	NC_000002.11:g.44028839G>A	(Likely) benign	1 lab	26f4a265b8
X:57619097 ZXDB G>A	X	57619097	57619097	G	A	ZXDB	c.616G>A	NM_007157.4	NP_009088.1:p.(Gly206Arg)	NC_000023.10:g.57619097G>A	VUS	1 lab	8dcaaf0cd5
19:12790971 DHPS C>T	19	12790971	12790971	C	T	DHPS	c.372+4G>A	NM_001930.4	NP_001921.1:p.?	NC_000019.9:g.12790971C>T	(Likely) benign	1 lab	8dcbab8cea
4:184614747 TRAPPC11 T>C	4	184614747	184614747	T	C	TRAPPC11	c.2243T>C	NM_021942.6	NP_068761.4:p.(Ile748Thr)	NC_000004.11:g.184614747T>C	VUS	1 lab	8dcc43ca0e
6:71004249 COL9A1 C>A	6	71004249	71004249	C	A	COL9A1	c.317G>T	NM_001851.6	NP_001842.3:p.(Gly106Val)	NC_000006.11:g.71004249C>A	VUS	1 lab	8dcc761360
1:225268400 DNAH14 TA>T	1	225268400	225268401	TA	T	DNAH14	c.3087del	NM_001367479.1	NP_001354408.1:p.(Gln1030ArgfsTer7)	NC_000001.10:g.225268401del	VUS	1 lab	8dcd3c12c7
2:20196961 MATN3 C>A	2	20196961	20196961	C	A	MATN3	c.1228G>T	NM_002381.5	NP_002372.1:p.(Ala410Ser)	NC_000002.11:g.20196961C>A	(Likely) benign	1 lab	8dcd732fd2
9:131021322 GOLGA2 G>A	9	131021322	131021322	G	A	GOLGA2	c.2020C>T	NM_004486.5	NP_004477.4:p.(Arg674Trp)	NC_000009.11:g.131021322G>A	VUS	1 lab	258d425889
1:7724591 CAMTA1 G>A	1	7724591	7724591	G	A	CAMTA1	c.1984G>A	NM_015215.4	NP_056030.1:p.(Val662Met)	NC_000001.10:g.7724591G>A	(Likely) benign	1 lab	8dd0389e11
3:172166011 GHSR T>C	3	172166011	172166011	T	C	GHSR	c.193A>G	NM_198407.2	NP_940799.1:p.(Met65Val)	NC_000003.11:g.172166011T>C	(Likely) benign	1 lab	8dd0f328a4
9:34648377 GALT G>A	9	34648377	34648377	G	A	GALT	c.611G>A	NM_000155.4	NP_000146.2:p.(Arg204Gln)	NC_000009.11:g.34648377G>A	VUS	1 lab	8dd22f30f6
10:29769501 SVIL T>C	10	29769501	29769501	T	C	SVIL	c.5342A>G	NM_021738.3	NP_068506.2:p.(Tyr1781Cys)	NC_000010.10:g.29769501T>C	VUS	1 lab	8dd252b424
20:57415420 GNAS-AS1 G>A	20	57415420	57415420	G	A	GNAS-AS1	n.672+1572C>T	NR_185847.1		NC_000020.10:g.57415420G>A	VUS	1 lab	8dd3b6e120
2:175622703 CHRNA1 C>T	2	175622703	175622703	C	T	CHRNA1	c.235-300G>A	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175622703C>T	(Likely) benign	1 lab	8dd5118bb1
16:2140486 PKD1 G>A	16	2140486	2140486	G	A	PKD1	c.12244C>T	NM_001009944.3	NP_001009944.3:p.(Leu4082=)	NC_000016.9:g.2140486G>A	(Likely) benign	1 lab	8dd52d7638
8:41805295 KAT6A A>T	8	41805295	41805295	A	T	KAT6A	c.1876T>A	NM_006766.5	NP_006757.2:p.(Cys626Ser)	NC_000008.10:g.41805295A>T	VUS	1 lab	8dd5837972
5:79950708 DHFR T>C	5	79950708	79950708	T	C	DHFR	c.-400A>G	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950708T>C	(Likely) benign	1 lab	8dd5a80cd0
4:1805420 FGFR3 C>T	4	1805420	1805420	C	T	FGFR3	c.932C>T	NM_000142.5	NP_000133.1:p.(Thr311Met)	NC_000004.11:g.1805420C>T	VUS	1 lab	8dd70a4024
14:23857083 MYH6 T>G	14	23857083	23857083	T	G	MYH6	c.4409A>C	NM_002471.4	NP_002462.2:p.(Glu1470Ala)	NC_000014.8:g.23857083T>G	VUS	1 lab	8dd7dcddc5
X:8434314 VCX3B GA>G	X	8434314	8434316	GA	G	VCX3B	c.633del	NM_001001888.4	NP_001001888.3:p.(Glu212AsnfsTer3)	NC_000023.10:g.8434316del	VUS	1 lab	8dd836442e
2:232081430 ARMC9 C>G	2	232081430	232081430	C	G	ARMC9	c.428C>G	NM_001352754.2	NP_001339683.2:p.(Thr143Arg)	NC_000002.11:g.232081430C>G	VUS	1 lab	8dd8495178
1:155206036 GBA1 C>G	1	155206036	155206036	C	G	GBA1	c.1224G>C	NM_000157.4	NP_000148.2:p.(Thr408=)	NC_000001.10:g.155206036C>G	VUS	1 lab	8dd8910503
12:94772805 CEP83 T>G	12	94772805	94772805	T	G	CEP83	c.563A>C	NM_016122.3	NP_057206.2:p.(Glu188Ala)	NC_000012.11:g.94772805T>G	(Likely) benign	1 lab	8dd8bb06ba
7:111487084 DOCK4 C>A	7	111487084	111487084	C	A	DOCK4	c.2572G>T	NM_001363540.2	NP_001350469.1:p.(Val858Leu)	NC_000007.13:g.111487084C>A	VUS	1 lab	8dda530cc8
4:4861753 MSX1 A>C	4	4861753	4861753	A	C	MSX1	c.127A>C	NM_002448.3	NP_002439.2:p.(Met43Leu)	NC_000004.11:g.4861753A>C	(Likely) benign	1 lab	8dda5dcd57
1:230883414 CAPN9 AGT>A	1	230883414	230883417	AGT	A	CAPN9	c.174_175del	NM_006615.3	NP_006606.1:p.(Ser58ArgfsTer30)	NC_000001.10:g.230883416_230883417del	VUS	1 lab	8ddcb60ed4
2:179417044 TTN T>G	2	179417044	179417044	T	G	TTN	c.90583A>C	NM_001267550.2	NP_001254479.2:p.(Lys30195Gln)	NC_000002.11:g.179417044T>G	VUS	1 lab	8ddd5b6f4f
17:17050673 MPRIP G>A	17	17050673	17050673	G	A	MPRIP	c.1601G>A	NM_001364716.4	NP_001351645.2:p.(Arg534Lys)	NC_000017.10:g.17050673G>A	VUS	1 lab	8dddcc2521
2:241684918 KIF1A C>T	2	241684918	241684918	C	T	KIF1A	c.3391G>A	NM_001244008.2	NP_001230937.1:p.(Asp1131Asn)	NC_000002.11:g.241684918C>T	VUS	1 lab	8de04c97d8
15:79080597 ADAMTS7 C>T	15	79080597	79080597	C	T	ADAMTS7	c.1298G>A	NM_014272.5	NP_055087.2:p.(Arg433His)	NC_000015.9:g.79080597C>T	VUS	1 lab	8de1035a26
X:153296077 MECP2 C>T	X	153296077	153296077	C	T	MECP2	c.1202G>A	NM_004992.4	NP_004983.1:p.(Ser401Asn)	NC_000023.10:g.153296077C>T	VUS	1 lab	258d4e707c
17:41231338 BRCA1 A>G	17	41231338	41231338	A	G	BRCA1	c.4358-2707T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41231338A>G	VUS	1 lab	8de2363fc8
18:67759903 RTTN C>T	18	67759903	67759903	C	T	RTTN	c.4032+9G>A	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67759903C>T	(Likely) benign	1 lab	8de3e1e8e4
X:50053273 CCNB3 G>T	X	50053273	50053273	G	T	CCNB3	c.2104G>T	NM_033031.3	NP_149020.2:p.(Ala702Ser)	NC_000023.10:g.50053273G>T	VUS	1 lab	8de53e19a4
9:138676342 KCNT1 T>C	9	138676342	138676342	T	C	KCNT1	c.2944-39T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676342T>C	(Likely) benign	1 lab	26fbe80873
5:82500743 XRCC4 A>G	5	82500743	82500743	A	G	XRCC4	c.745+3A>G	NM_003401.5	NP_003392.1:p.?	NC_000005.9:g.82500743A>G	VUS	1 lab	8de64d70b3
16:3640415 SLX4 G>A	16	3640415	3640415	G	A	SLX4	c.3224C>T	NM_032444.4	NP_115820.2:p.(Ser1075Phe)	NC_000016.9:g.3640415G>A	VUS	1 lab	8de76b6d99
3:170846643 TNIK G>A	3	170846643	170846643	G	A	TNIK	c.1633C>T	NM_015028.4	NP_055843.1:p.(Arg545Trp)	NC_000003.11:g.170846643G>A	VUS	1 lab	8de8d7454c
2:73649988 ALMS1 T>C	2	73649988	73649988	T	C	ALMS1	c.650T>C	NM_001378454.1	NP_001365383.1:p.(Ile217Thr)	NC_000002.11:g.73649988T>C	(Likely) benign	1 lab	8de94c68b8
2:241828033 MAB21L4 C>T	2	241828033	241828033	C	T	MAB21L4	c.927G>A	NM_001085437.3	NP_001078906.3:p.(Leu309=)	NC_000002.11:g.241828033C>T	VUS	1 lab	8de9e3c2c9
5:156816443 CYFIP2 C>T	5	156816443	156816443	C	T	CYFIP2	c.3446+8C>T	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156816443C>T	(Likely) benign	1 lab	8de9e4c540
6:24533867 ALDH5A1 T>G	6	24533867	24533867	T	G	ALDH5A1	c.1535T>G	NM_001080.3	NP_001071.1:p.(Leu512Arg)	NC_000006.11:g.24533867T>G	VUS	1 lab	8dea3542bf
2:186668962 FSIP2 GT>G	2	186668962	186668963	GT	G	FSIP2	c.14930del	NM_173651.4	NP_775922.3:p.(Val4977GlyfsTer3)	NC_000002.11:g.186668963del	VUS	1 lab	8dea3c4e55
18:13884817 MC2R G>A	18	13884817	13884817	G	A	MC2R	c.701C>T	NM_000529.2	NP_000520.1:p.(Pro234Leu)	NC_000018.9:g.13884817G>A	VUS	1 lab	8dee25080f
16:67681421 CARMIL2 C>T	16	67681421	67681421	C	T	CARMIL2	c.787C>T	NM_001013838.3	NP_001013860.1:p.(Arg263Ter)	NC_000016.9:g.67681421C>T	(Likely) pathogenic	1 lab	258dfd0de3
12:25297561 DNAI7 C>A	12	25297561	25297561	C	A	DNAI7	c.740G>T	NM_018272.5	NP_060742.4:p.(Arg247Met)	NC_000012.11:g.25297561C>A	VUS	1 lab	8dee753962
X:111019836 TRPC5 C>T	X	111019836	111019836	C	T	TRPC5	c.2627G>A	NM_012471.3	NP_036603.1:p.(Cys876Tyr)	NC_000023.10:g.111019836C>T	VUS	1 lab	8deeb3b436
19:49934325 SLC17A7 T>C	19	49934325	49934325	T	C	SLC17A7	c.1336A>G	NM_020309.4	NP_064705.1:p.(Thr446Ala)	NC_000019.9:g.49934325T>C	VUS	1 lab	8defaf6524
7:124464092 POT1 T>C	7	124464092	124464092	T	C	POT1	c.1829A>G	NM_015450.3	NP_056265.2:p.(Tyr610Cys)	NC_000007.13:g.124464092T>C	VUS	1 lab	8df00cfcf5
19:4099265 MAP2K2 C>G	19	4099265	4099265	C	G	MAP2K2	c.853G>C	NM_030662.4	NP_109587.1:p.(Asp285His)	NC_000019.9:g.4099265C>G	(Likely) benign	1 lab	8df0510a70
8:6338354 MCPH1 T>G	8	6338354	6338354	T	G	MCPH1	c.2093T>G	NM_024596.5	NP_078872.3:p.(Leu698Arg)	NC_000008.10:g.6338354T>G	VUS	1 lab	8df16080e6
17:28599787 BLMH A>G	17	28599787	28599787	A	G	BLMH	c.932T>C	NM_000386.4	NP_000377.1:p.(Met311Thr)	NC_000017.10:g.28599787A>G	(Likely) benign	1 lab	8df1b0d74f
12:111856433 SH2B3 GC>G	12	111856433	111856438	GC	G	SH2B3	c.489del	NM_005475.3	NP_005466.1:p.(Thr165ProfsTer32)	NC_000012.11:g.111856438del	VUS	1 lab	258e4be71d
3:33110373 GLB1 T>C	3	33110373	33110373	T	C	GLB1	c.335A>G	NM_000404.4	NP_000395.3:p.(His112Arg)	NC_000003.11:g.33110373T>C	VUS	1 lab	8df3402876
19:1460193 APC2 C>T	19	1460193	1460193	C	T	APC2	c.1317C>T	NM_005883.3	NP_005874.1:p.(Ala439=)	NC_000019.9:g.1460193C>T	(Likely) benign	1 lab	8df4366c9f
3:13360744 NUP210 G>A	3	13360744	13360744	G	A	NUP210	c.5465C>T	NM_024923.4	NP_079199.2:p.(Ala1822Val)	NC_000003.11:g.13360744G>A	VUS	1 lab	8df4b44324
17:73498622 CASKIN2 C>T	17	73498622	73498622	C	T	CASKIN2	c.2533G>A	NM_020753.5	NP_065804.2:p.(Val845Met)	NC_000017.10:g.73498622C>T	(Likely) benign	1 lab	8df6506b3d
3:175520843 NAALADL2 T>C	3	175520843	175520843	T	C	NAALADL2	c.2240T>C	NM_207015.3	NP_996898.2:p.(Ile747Thr)	NC_000003.11:g.175520843T>C	(Likely) benign	1 lab	26fc9f7c44
21:34923329 SON G>A	21	34923329	34923329	G	A	SON	c.1792G>A	NM_138927.4	NP_620305.3:p.(Gly598Arg)	NC_000021.8:g.34923329G>A	(Likely) benign	1 lab	8df8419720
20:49510845 ADNP G>A	20	49510845	49510845	G	A	ADNP	c.406C>T	NM_001282531.3	NP_001269460.1:p.(Pro136Ser)	NC_000020.10:g.49510845G>A	(Likely) benign	1 lab	8df8b9377e
21:43838543 UBASH3A A>G	21	43838543	43838543	A	G	UBASH3A	c.871A>G	NM_018961.4	NP_061834.1:p.(Asn291Asp)	NC_000021.8:g.43838543A>G	VUS	1 lab	8df8beed06
6:33144795 COL11A2 C>T	6	33144795	33144795	C	T	COL11A2	c.2044G>A	NM_080680.3	NP_542411.2:p.(Gly682Ser)	NC_000006.11:g.33144795C>T	VUS	1 lab	8dfa724933
1:152279108 FLG G>C	1	152279108	152279108	G	C	FLG	c.8254C>G	NM_002016.2	NP_002007.1:p.(His2752Asp)	NC_000001.10:g.152279108G>C	(Likely) benign	1 lab	8dfaeaf824
7:6431653 RAC1 C>T	7	6431653	6431653	C	T	RAC1	c.206C>T	NM_006908.5	NP_008839.2:p.(Pro69Leu)	NC_000007.13:g.6431653C>T	VUS	1 lab	8dfb21289e
12:7361241 PEX5 G>A	12	7361241	7361241	G	A	PEX5	c.1370G>A	NM_001351132.2	NP_001338061.1:p.(Arg457His)	NC_000012.11:g.7361241G>A	VUS	1 lab	8dfc621a53
1:197070387 ASPM C>G	1	197070387	197070387	C	G	ASPM	c.7994G>C	NM_018136.5	NP_060606.3:p.(Arg2665Pro)	NC_000001.10:g.197070387C>G	VUS	1 lab	8dfc6af160
19:36209100 KMT2B G>C	19	36209100	36209100	G	C	KMT2B	c.180G>C	NM_014727.3	NP_055542.1:p.(Glu60Asp)	NC_000019.9:g.36209100G>C	(Likely) benign	1 lab	8dfcc92556
19:56002383 SSC5D C>A	19	56002383	56002383	C	A	SSC5D	c.831C>A	NM_001144950.2	NP_001138422.1:p.(Cys277Ter)	NC_000019.9:g.56002383C>A	VUS	1 lab	8dfde0ddb8
20:35884908 GHRH G>T	20	35884908	35884908	G	T	GHRH	c.84-7C>A	NM_021081.6	NP_066567.1:p.?	NC_000020.10:g.35884908G>T	VUS	1 lab	8dfe02b495
22:28503054 TTC28 G>A	22	28503054	28503054	G	A	TTC28	c.2779C>T	NM_001145418.2	NP_001138890.1:p.(His927Tyr)	NC_000022.10:g.28503054G>A	VUS	1 lab	8dffc46fc4
3:183884658 DVL3 A>C	3	183884658	183884658	A	C	DVL3	c.1093A>C	NM_004423.4	NP_004414.3:p.(Thr365Pro)	NC_000003.11:g.183884658A>C	VUS	1 lab	8e003e9064
12:53073800 KRT1 TCCACCAAAGCCACCA>T	12	53073800	53073851	TCCACCAAAGCCACCA	T	KRT1	c.318_332del	NM_006121.4	NP_006112.3:p.(Phe109_Gly113del)	NC_000012.11:g.53073837_53073851del	(Likely) benign	1 lab	8e006ef385
9:13192294 MPDZ CCTGTGAAAAAAGATACA>C	9	13192294	13192311	CCTGTGAAAAAAGATACA	C	MPDZ	c.1804-17_1804-1del	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13192295_13192311del	VUS	1 lab	8e007fe5b5
15:84705744 ADAMTSL3 G>A	15	84705744	84705744	G	A	ADAMTSL3	c.4969+5G>A	NM_207517.3	NP_997400.2:p.?	NC_000015.9:g.84705744G>A	(Likely) benign	1 lab	8e0166794b
1:201047078 CACNA1S C>T	1	201047078	201047078	C	T	CACNA1S	c.1548G>A	NM_000069.3	NP_000060.2:p.(Ser516=)	NC_000001.10:g.201047078C>T	(Likely) benign	1 lab	8e019b83b4
5:1272708 TERT G>A	5	1272708	1272708	G	A	TERT	c.2287-313C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1272708G>A	(Likely) benign	1 lab	8e01ada71e
18:10487657 APCDD1 G>C	18	10487657	10487657	G	C	APCDD1	c.1167G>C	NM_153000.5	NP_694545.1:p.(Glu389Asp)	NC_000018.9:g.10487657G>C	VUS	1 lab	8e02268876
15:86118516 AKAP13 A>G	15	86118516	86118516	A	G	AKAP13	c.817A>G	NM_006738.6	NP_006729.4:p.(Thr273Ala)	NC_000015.9:g.86118516A>G	VUS	1 lab	26fea22d8b
9:138706941 CAMSAP1 G>A	9	138706941	138706941	G	A	CAMSAP1	c.4506+2C>T	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138706941G>A	VUS	1 lab	8e0331aaa7
X:100747255 ARMCX4 G>A	X	100747255	100747255	G	A	ARMCX4	c.3679G>A	NM_001256155.3	NP_001243084.2:p.(Ala1227Thr)	NC_000023.10:g.100747255G>A	(Likely) benign	1 lab	8e03bb41ca
1:59247313 JUN T>C	1	59247313	59247313	T	C	JUN	c.*434A>G	NM_002228.4	NP_002219.1:p.?	NC_000001.10:g.59247313T>C	VUS	1 lab	8e058c9d43
17:26883921 PIGS G>A	17	26883921	26883921	G	A	PIGS	c.1004C>T	NM_033198.4	NP_149975.1:p.(Pro335Leu)	NC_000017.10:g.26883921G>A	VUS	1 lab	8e0648edf8
X:153707076 LAGE3 G>A	X	153707076	153707076	G	A	LAGE3	c.179C>T	NM_006014.5	NP_006005.2:p.(Pro60Leu)	NC_000023.10:g.153707076G>A	VUS	1 lab	8e064ed61e
4:77661169 SHROOM3 G>T	4	77661169	77661169	G	T	SHROOM3	c.1843G>T	NM_020859.4	NP_065910.3:p.(Glu615Ter)	NC_000004.11:g.77661169G>T	VUS	1 lab	8e077a257c
1:39853210 MACF1 A>G	1	39853210	39853210	A	G	MACF1	c.14696A>G	NM_001394062.1	NP_001380991.1:p.(Lys4899Arg)	NC_000001.10:g.39853210A>G	(Likely) benign	1 lab	8e0878d38d
9:98247991 PTCH1 C>T	9	98247991	98247991	C	T	PTCH1	c.560G>A	NM_000264.5	NP_000255.2:p.(Arg187His)	NC_000009.11:g.98247991C>T	(Likely) benign	1 lab	8e088f2c53
5:42689024 GHR C>T	5	42689024	42689024	C	T	GHR	c.169C>T	NM_000163.5	NP_000154.1:p.(Arg57Cys)	NC_000005.9:g.42689024C>T	VUS	1 lab	8e089ce99a
X:120009340 CT47B1 C>A	X	120009340	120009340	C	A	CT47B1	c.185G>T	NM_001145718.3	NP_001139190.1:p.(Gly62Val)	NC_000023.10:g.120009340C>A	(Likely) benign	1 lab	8e0b19a462
2:218999614 CXCR2 C>G	2	218999614	218999614	C	G	CXCR2	c.90C>G	NM_001557.4	NP_001548.1:p.(Pro30=)	NC_000002.11:g.218999614C>G	(Likely) benign	1 lab	2701afee06
7:44180674 MYL7 C>CATTCTCTCTGCAGAGG	7	44180674	44180675	C	CATTCTCTCTGCAGAGG	MYL7	c.4-2_4-1insCCTCTGCAGAGAGAAT	NM_021223.3	NP_067046.1:p.?	NC_000007.13:g.44180674_44180675insATTCTCTCTGCAGAGG	(Likely) benign	1 lab	8e0f25a731
7:148524350 EZH2 T>C	7	148524350	148524350	T	C	EZH2	c.634A>G	NM_004456.5	NP_004447.2:p.(Ser212Gly)	NC_000007.13:g.148524350T>C	VUS	1 lab	8e0f4086ab
19:18260204 MAST3 C>T	19	18260204	18260204	C	T	MAST3	c.3712C>T	NM_001393504.1	NP_001380433.1:p.(Arg1238Cys)	NC_000019.9:g.18260204C>T	VUS	1 lab	8e0f9d557d
16:2143939 PKD1 A>G	16	2143939	2143939	A	G	PKD1	c.10694T>C	NM_001009944.3	NP_001009944.3:p.(Leu3565Pro)	NC_000016.9:g.2143939A>G	VUS	1 lab	8e1024ea40
1:220387231 RAB3GAP2 T>C	1	220387231	220387231	T	C	RAB3GAP2	c.271A>G	NM_012414.4	NP_036546.2:p.(Ile91Val)	NC_000001.10:g.220387231T>C	(Likely) benign	1 lab	8e10e5a0ee
15:89390491 ACAN C>T	15	89390491	89390491	C	T	ACAN	c.1447C>T	NM_001369268.1	NP_001356197.1:p.(Arg483Cys)	NC_000015.9:g.89390491C>T	(Likely) benign	1 lab	8e1114073f
17:535990 VPS53 G>A	17	535990	535990	G	A	VPS53	c.609-1122C>T	NM_001128159.3	NP_001121631.1:p.?	NC_000017.10:g.535990G>A	(Likely) benign	1 lab	8e1131a7ca
17:40468901 STAT3 G>A	17	40468901	40468901	G	A	STAT3	c.2163C>T	NM_139276.2	NP_644805.1:p.(Thr721=)	NC_000017.10:g.40468901G>A	(Likely) benign	1 lab	27029cb66e
22:40662816 TNRC6B GGC>G	22	40662816	40662818	GGC	G	TNRC6B	c.2583_2584del	NM_001162501.2	NP_001155973.1:p.(Pro862ThrfsTer6)	NC_000022.10:g.40662817_40662818del	(Likely) pathogenic	1 lab	8e153d431e
2:179407611 TTN C>T	2	179407611	179407611	C	T	TTN	c.96970G>A	NM_001267550.2	NP_001254479.2:p.(Val32324Ile)	NC_000002.11:g.179407611C>T	VUS	1 lab	8e177b6c62
2:179455338 TTN G>T	2	179455338	179455338	G	T	TTN	c.61114C>A	NM_001267550.2	NP_001254479.2:p.(Pro20372Thr)	NC_000002.11:g.179455338G>T	VUS	1 lab	8e198fe79a
13:21729290 SKA3 C>CAGTTTTCTTTGT	13	21729290	21729291	C	CAGTTTTCTTTGT	SKA3	c.1239-2_1239-1insACAAAGAAAACT	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729290_21729291insAGTTTTCTTTGT	(Likely) benign	1 lab	8e1ba3adeb
7:31015469 GHRHR C>T	7	31015469	31015469	C	T	GHRHR	c.960C>T	NM_000823.4	NP_000814.2:p.(Thr320=)	NC_000007.13:g.31015469C>T	(Likely) benign	1 lab	8e1baa7137
7:139226865 CLEC2L C>T	7	139226865	139226865	C	T	CLEC2L	c.531C>T	NM_001080511.4	NP_001073980.2:p.(Asp177=)	NC_000007.13:g.139226865C>T	VUS	1 lab	8e1d3fcbd2
22:29730245 AP1B1 A>G	22	29730245	29730245	A	G	AP1B1	c.2309+9T>C	NM_001127.4	NP_001118.3:p.?	NC_000022.10:g.29730245A>G	(Likely) benign	1 lab	8e1eee590d
19:38956970 RYR1 G>A	19	38956970	38956970	G	A	RYR1	c.3110G>A	NM_000540.3	NP_000531.2:p.(Ser1037Asn)	NC_000019.9:g.38956970G>A	VUS	1 lab	8e216fe7a9
1:197073924 ASPM T>C	1	197073924	197073924	T	C	ASPM	c.4457A>G	NM_018136.5	NP_060606.3:p.(Tyr1486Cys)	NC_000001.10:g.197073924T>C	VUS	1 lab	8e252aed13
17:7123516 ACADVL G>A	17	7123516	7123516	G	A	ACADVL	c.138G>A	NM_000018.4	NP_000009.1:p.(Gln46=)	NC_000017.10:g.7123516G>A	(Likely) benign	1 lab	8e25414eab
20:19955585 RIN2 T>TGCC	20	19955585	19955586	T	TGCC	RIN2	c.916_917insGCC	NM_018993.4	NP_061866.1:p.(Ser306delinsCysPro)	NC_000020.10:g.19955585_19955586insGCC	(Likely) benign	1 lab	8e281327f5
10:76784798 KAT6B C>G	10	76784798	76784798	C	G	KAT6B	c.3455C>G	NM_012330.4	NP_036462.2:p.(Thr1152Arg)	NC_000010.10:g.76784798C>G	(Likely) benign	1 lab	8e296c167a
X:9900643 SHROOM2 C>T	X	9900643	9900643	C	T	SHROOM2	c.3320C>T	NM_001649.4	NP_001640.1:p.(Ala1107Val)	NC_000023.10:g.9900643C>T	(Likely) benign	1 lab	8e2ae1401a
13:111368150 ING1 G>C	13	111368150	111368150	G	C	ING1	c.136+1518G>C	NM_198219.3	NP_937862.1:p.?	NC_000013.10:g.111368150G>C	(Likely) benign	1 lab	8e2af4f02b
19:11103916 SMARCA4 C>T	19	11103916	11103916	C	T	SMARCA4	c.1420-1588C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11103916C>T	(Likely) benign	1 lab	8e2b215804
16:75690203 TERF2IP GGAA>G	16	75690203	75690221	GGAA	G	TERF2IP	c.910_912del	NM_018975.4	NP_061848.2:p.(Glu304del)	NC_000016.9:g.75690219_75690221del	VUS	1 lab	8e2c3db443
2:178364342 AGPS G>T	2	178364342	178364342	G	T	AGPS	c.1363-4G>T	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178364342G>T	(Likely) benign	1 lab	8e2d179f5d
19:9922075 FBXL12 G>A	19	9922075	9922075	G	A	FBXL12	c.478C>T	NM_017703.3	NP_060173.1:p.(Arg160Cys)	NC_000019.9:g.9922075G>A	VUS	1 lab	8e82acbb13
9:140055598 GRIN1 C>T	9	140055598	140055598	C	T	GRIN1	c.1288C>T	NM_007327.4	NP_015566.1:p.(Pro430Ser)	NC_000009.11:g.140055598C>T	VUS	1 lab	8e2d2910c7
8:144993387 PLEC G>A	8	144993387	144993387	G	A	PLEC	c.10602C>T	NM_201384.3	NP_958786.1:p.(Pro3534=)	NC_000008.10:g.144993387G>A	(Likely) benign	1 lab	8e2ec80025
18:76757041 SALL3 G>A	18	76757041	76757041	G	A	SALL3	c.3622G>A	NM_171999.4	NP_741996.2:p.(Asp1208Asn)	NC_000018.9:g.76757041G>A	VUS	1 lab	8e2fc1139b
6:152655125 SYNE1 T>A	6	152655125	152655125	T	A	SYNE1	c.12794+18A>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152655125T>A	(Likely) benign	1 lab	2702be2d26
15:90209039 PLIN1 A>G	15	90209039	90209039	A	G	PLIN1	c.1344T>C	NM_002666.5	NP_002657.3:p.(Arg448=)	NC_000015.9:g.90209039A>G	VUS	1 lab	8e3108de07
12:120135605 CIT C>T	12	120135605	120135605	C	T	CIT	c.5741G>A	NM_001206999.2	NP_001193928.1:p.(Arg1914His)	NC_000012.11:g.120135605C>T	VUS	1 lab	8e3192c3f8
7:130080788 CEP41 A>G	7	130080788	130080788	A	G	CEP41	c.20T>C	NM_018718.3	NP_061188.1:p.(Ile7Thr)	NC_000007.13:g.130080788A>G	VUS	1 lab	8e31c071f3
12:22086854 ABCC9 C>T	12	22086854	22086854	C	T	ABCC9	c.146G>A	NM_020297.4	NP_064693.2:p.(Trp49Ter)	NC_000012.11:g.22086854C>T	VUS	1 lab	8e32748a0d
1:22206683 HSPG2 C>T	1	22206683	22206683	C	T	HSPG2	c.2260G>A	NM_005529.7	NP_005520.4:p.(Gly754Ser)	NC_000001.10:g.22206683C>T	(Likely) benign	1 lab	8e333fd72f
16:51175832 SALL1 T>C	16	51175832	51175832	T	C	SALL1	c.301A>G	NM_002968.3	NP_002959.2:p.(Thr101Ala)	NC_000016.9:g.51175832T>C	VUS	1 lab	8e34990b8d
19:7143049 INSR C>T	19	7143049	7143049	C	T	INSR	c.2320G>A	NM_000208.4	NP_000199.2:p.(Val774Met)	NC_000019.9:g.7143049C>T	VUS	1 lab	8e36330b01
9:136513082 DBH G>A	9	136513082	136513082	G	A	DBH	c.1139G>A	NM_000787.4	NP_000778.3:p.(Arg380Gln)	NC_000009.11:g.136513082G>A	(Likely) benign	1 lab	8e3676bfc4
12:9001443 A2ML1 C>T	12	9001443	9001443	C	T	A2ML1	c.1961C>T	NM_144670.6	NP_653271.3:p.(Ser654Leu)	NC_000012.11:g.9001443C>T	(Likely) benign	1 lab	8e372badc8
X:46918227 JADE3 G>A	X	46918227	46918227	G	A	JADE3	c.2220G>A	NM_014735.5	NP_055550.1:p.(Met740Ile)	NC_000023.10:g.46918227G>A	(Likely) benign	1 lab	8e39559dc7
20:9401965 PLCB4 T>C	20	9401965	9401965	T	C	PLCB4	c.2176T>C	NM_001377142.1	NP_001364071.1:p.(Ser726Pro)	NC_000020.10:g.9401965T>C	VUS	1 lab	8e3c2b2ae5
12:7048062 ATN1 T>A	12	7048062	7048062	T	A	ATN1	c.2936T>A	NM_001940.4	NP_001931.2:p.(Leu979Gln)	NC_000012.11:g.7048062T>A	VUS	1 lab	8e3d795eec
18:19751477 GATA6 C>T	18	19751477	19751477	C	T	GATA6	c.372C>T	NM_005257.6	NP_005248.2:p.(Ala124=)	NC_000018.9:g.19751477C>T	(Likely) benign	1 lab	8e3e5781e8
1:201338950 TNNT2 C>T	1	201338950	201338950	C	T	TNNT2	c.91G>A	NM_001276345.2	NP_001263274.1:p.(Glu31Lys)	NC_000001.10:g.201338950C>T	VUS	1 lab	8e3ec13cb8
7:47927749 PKD1L1 C>T	7	47927749	47927749	C	T	PKD1L1	c.2676-1G>A	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47927749C>T	VUS	1 lab	8e410dbc11
2:182543511 NEUROD1 C>G	2	182543511	182543511	C	G	NEUROD1	c.77G>C	NM_002500.5	NP_002491.3:p.(Cys26Ser)	NC_000002.11:g.182543511C>G	VUS	1 lab	8e41ab62ba
2:179395830 TTN G>A	2	179395830	179395830	G	A	TTN	c.78692C>T	NM_133432.3	NP_597676.3:p.(Thr26231Ile)	NC_000002.11:g.179395830G>A	(Likely) benign	1 lab	2708f8ac71
14:68271981 ZFYVE26 C>A	14	68271981	68271981	C	A	ZFYVE26	c.1224G>T	NM_015346.4	NP_056161.2:p.(Gly408=)	NC_000014.8:g.68271981C>A	(Likely) benign	1 lab	8e41cf913b
2:119727886 MARCO G>T	2	119727886	119727886	G	T	MARCO	c.396G>T	NM_006770.4	NP_006761.1:p.(Gln132His)	NC_000002.11:g.119727886G>T	VUS	1 lab	8e42187a98
14:95033435 SERPINA4 T>C	14	95033435	95033435	T	C	SERPINA4	c.778T>C	NM_006215.4	NP_006206.2:p.(Tyr260His)	NC_000014.8:g.95033435T>C	(Likely) benign	1 lab	8e422df750
5:112389537 MCC A>C	5	112389537	112389537	A	C	MCC	c.2333T>G	NM_001085377.2	NP_001078846.2:p.(Leu778Arg)	NC_000005.9:g.112389537A>C	VUS	1 lab	8e429cab06
11:108114676 ATM TAAGA>T	11	108114676	108114681	TAAGA	T	ATM	c.497-2_498del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114678_108114681del	(Likely) benign	1 lab	8e44d357ff
19:18242748 MAST3 A>G	19	18242748	18242748	A	G	MAST3	c.1462A>G	NM_001393504.1	NP_001380433.1:p.(Met488Val)	NC_000019.9:g.18242748A>G	VUS	1 lab	8e55c5c12b
9:135946917 CEL CGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCG>C	9	135946917	135946995	CGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCG	C	CEL	c.2040_2106del	NM_001807.6	NP_001798.3:p.(Val681Ter)	NC_000009.11:g.135946929_135946995del	VUS	1 lab	8e4699a7b9
3:184076603 CLCN2 T>C	3	184076603	184076603	T	C	CLCN2	c.221-2A>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184076603T>C	(Likely) pathogenic	1 lab	8e46df9d16
18:31241572 ASXL3 G>C	18	31241572	31241572	G	C	ASXL3	c.356-8G>C	NM_030632.3	NP_085135.1:p.?	NC_000018.9:g.31241572G>C	(Likely) benign	1 lab	8e4951f04d
15:64010881 HERC1 A>C	15	64010881	64010881	A	C	HERC1	c.3870T>G	NM_003922.4	NP_003913.3:p.(Gly1290=)	NC_000015.9:g.64010881A>C	(Likely) benign	1 lab	8e4adff5da
6:70980035 COL9A1 AG>A	6	70980035	70980041	AG	A	COL9A1	c.1178del	NM_001851.6	NP_001842.3:p.(Pro393LeufsTer36)	NC_000006.11:g.70980041del	(Likely) pathogenic	1 lab	8e4c0dee78
15:74367072 GOLGA6A G>A	15	74367072	74367072	G	A	GOLGA6A	c.1118C>T	NM_001038640.2	NP_001033729.2:p.(Thr373Met)	NC_000015.9:g.74367072G>A	(Likely) benign	1 lab	8e4ee5f940
3:53699779 CACNA1D A>G	3	53699779	53699779	A	G	CACNA1D	c.859A>G	NM_001128840.3	NP_001122312.1:p.(Ile287Val)	NC_000003.11:g.53699779A>G	VUS	1 lab	8e4f007cad
16:20352618 UMOD C>A	16	20352618	20352618	C	A	UMOD	c.1471G>T	NM_001278614.2	NP_001265543.1:p.(Val491Leu)	NC_000016.9:g.20352618C>A	(Likely) benign	1 lab	270e4f8c71
15:85401501 ALPK3 G>A	15	85401501	85401501	G	A	ALPK3	c.3532G>A	NM_020778.5	NP_065829.4:p.(Gly1178Arg)	NC_000015.9:g.85401501G>A	VUS	1 lab	8e4fba1ce9
1:11186669 MTOR T>C	1	11186669	11186669	T	C	MTOR	c.6526+10A>G	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11186669T>C	(Likely) benign	1 lab	8e50bed98d
8:27646364 ESCO2 G>A	8	27646364	27646364	G	A	ESCO2	c.1132G>A	NM_001017420.3	NP_001017420.1:p.(Asp378Asn)	NC_000008.10:g.27646364G>A	VUS	1 lab	8e51f1a1c4
X:71351140 NHSL2 A>G	X	71351140	71351140	A	G	NHSL2	c.281-789A>G	NM_001013627.3	NP_001013649.2:p.?	NC_000023.10:g.71351140A>G	(Likely) benign	1 lab	8e51fc5ef8
17:48667847 CACNA1G A>T	17	48667847	48667847	A	T	CACNA1G	c.2317A>T	NM_018896.5	NP_061496.2:p.(Asn773Tyr)	NC_000017.10:g.48667847A>T	VUS	1 lab	8e525a6900
X:76912063 ATRX G>A	X	76912063	76912063	G	A	ATRX	c.4201C>T	NM_000489.6	NP_000480.3:p.(Arg1401Trp)	NC_000023.10:g.76912063G>A	VUS	1 lab	8e530c5e10
20:60589596 TAF4 C>A	20	60589596	60589596	C	A	TAF4	c.1521+7G>T	NM_003185.4	NP_003176.2:p.?	NC_000020.10:g.60589596C>A	(Likely) benign	1 lab	8e54c37487
4:6590884 MAN2B2 A>G	4	6590884	6590884	A	G	MAN2B2	c.677A>G	NM_015274.3	NP_056089.1:p.(Asn226Ser)	NC_000004.11:g.6590884A>G	VUS	1 lab	8e57322a74
10:89473062 PAPSS2 G>A	10	89473062	89473062	G	A	PAPSS2	c.376G>A	NM_001015880.2	NP_001015880.1:p.(Ala126Thr)	NC_000010.10:g.89473062G>A	(Likely) benign	1 lab	8e57b7e277
1:32101056 PEF1 T>C	1	32101056	32101056	T	C	PEF1	c.92A>G	NM_012392.4	NP_036524.1:p.(Asn31Ser)	NC_000001.10:g.32101056T>C	(Likely) benign	1 lab	8e5818dd91
10:102541012 PAX2 C>T	10	102541012	102541012	C	T	PAX2	c.506C>T	NM_000278.5	NP_000269.3:p.(Thr169Met)	NC_000010.10:g.102541012C>T	(Likely) benign	1 lab	8e58e22e9a
12:18435220 PIK3C2G C>T	12	18435220	18435220	C	T	PIK3C2G	c.205C>T	NM_001288772.2	NP_001275701.1:p.(Pro69Ser)	NC_000012.11:g.18435220C>T	(Likely) benign	1 lab	8e592ea933
10:17813380 TMEM236 G>C	10	17813380	17813380	G	C	TMEM236	c.330G>C	NM_001098844.3	NP_001092314.1:p.(Glu110Asp)	NC_000010.10:g.17813380G>C	(Likely) benign	1 lab	8e59808080
17:76802331 USP36 C>T	17	76802331	76802331	C	T	USP36	c.2123G>A	NM_001385174.1	NP_001372103.1:p.(Arg708His)	NC_000017.10:g.76802331C>T	(Likely) benign	1 lab	8e5a44fd73
17:5462767 NLRP1 A>G	17	5462767	5462767	A	G	NLRP1	c.1249T>C	NM_033004.4	NP_127497.1:p.(Trp417Arg)	NC_000017.10:g.5462767A>G	VUS	1 lab	8e5b6a7101
X:106083971 TBC1D8B A>T	X	106083971	106083971	A	T	TBC1D8B	c.1576A>T	NM_017752.3	NP_060222.2:p.(Asn526Tyr)	NC_000023.10:g.106083971A>T	VUS	1 lab	8e5c43fe8d
17:40371368 STAT5B G>A	17	40371368	40371368	G	A	STAT5B	c.795C>T	NM_012448.4	NP_036580.2:p.(Gly265=)	NC_000017.10:g.40371368G>A	(Likely) benign	1 lab	8e5cba182d
7:1786297 ELFN1 G>A	7	1786297	1786297	G	A	ELFN1	c.2065G>A	NM_001128636.4	NP_001122108.1:p.(Val689Met)	NC_000007.13:g.1786297G>A	VUS	1 lab	8e5cce82b4
19:38375694 WDR87 G>T	19	38375694	38375694	G	T	WDR87	c.8617C>A	NM_001291088.2	NP_001278017.1:p.(Arg2873Ser)	NC_000019.9:g.38375694G>T	(Likely) benign	1 lab	8e5d7c8e11
2:230662498 TRIP12 G>A	2	230662498	230662498	G	A	TRIP12	c.3532C>T	NM_001348323.3	NP_001335252.1:p.(Arg1178Cys)	NC_000002.11:g.230662498G>A	VUS	1 lab	8e5eeb60c3
22:38212588 GCAT G>A	22	38212588	38212588	G	A	GCAT	c.1123G>A	NM_014291.4	NP_055106.1:p.(Gly375Arg)	NC_000022.10:g.38212588G>A	VUS	1 lab	8e5f233a8f
19:5720774 CATSPERD C>G	19	5720774	5720774	C	G	CATSPERD	c.26C>G	NM_152784.4	NP_689997.3:p.(Ala9Gly)	NC_000019.9:g.5720774C>G	(Likely) benign	1 lab	8e61337bc1
X:64742472 LAS1L G>C	X	64742472	64742472	G	C	LAS1L	c.1448+968C>G	NM_031206.7	NP_112483.1:p.?	NC_000023.10:g.64742472G>C	(Likely) benign	1 lab	8e615b9fa2
16:72821631 ZFHX3 C>G	16	72821631	72821631	C	G	ZFHX3	c.10544G>C	NM_006885.4	NP_008816.3:p.(Gly3515Ala)	NC_000016.9:g.72821631C>G	(Likely) benign	1 lab	8e620eccaa
19:7117225 INSR G>A	19	7117225	7117225	G	A	INSR	c.3991C>T	NM_000208.4	NP_000199.2:p.(Arg1331Cys)	NC_000019.9:g.7117225G>A	VUS	1 lab	8e6213249b
12:57591997 LRP1 G>A	12	57591997	57591997	G	A	LRP1	c.9341G>A	NM_002332.3	NP_002323.2:p.(Gly3114Asp)	NC_000012.11:g.57591997G>A	VUS	1 lab	8e6272c72d
12:3039515 TULP3 T>C	12	3039515	3039515	T	C	TULP3	c.492+4T>C	NM_003324.5	NP_003315.2:p.?	NC_000012.11:g.3039515T>C	(Likely) benign	1 lab	27154a4a16
5:154191133 LARP1 T>G	5	154191133	154191133	T	G	LARP1	c.3014T>G	NM_033551.3	NP_291029.2:p.(Leu1005Trp)	NC_000005.9:g.154191133T>G	VUS	1 lab	8e66b0c3a7
17:42991377 GFAP T>A	17	42991377	42991377	T	A	GFAP	c.522+19A>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991377T>A	(Likely) benign	1 lab	8e66f954b1
19:8987060 MUC16 C>G	19	8987060	8987060	C	G	MUC16	c.44456G>C	NM_001401501.2	NP_001388430.1:p.(Arg14819Thr)	NC_000019.9:g.8987060C>G	(Likely) benign	1 lab	8e676a11ea
2:220333772 SPEG TACC>T	2	220333772	220333778	TACC	T	SPEG	c.3491+6_3491+8del	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220333776_220333778del	VUS	1 lab	8e69d0e70c
3:141162449 ZBTB38 C>T	3	141162449	141162449	C	T	ZBTB38	c.1219C>T	NM_001376113.1	NP_001363042.1:p.(Arg407Cys)	NC_000003.11:g.141162449C>T	VUS	1 lab	8e6ce5c2cf
12:49363866 WNT10B G>A	12	49363866	49363866	G	A	WNT10B	c.337+6C>T	NM_003394.4	NP_003385.2:p.?	NC_000012.11:g.49363866G>A	(Likely) benign	1 lab	8e6d1fc447
1:41463117 CTPS1 G>A	1	41463117	41463117	G	A	CTPS1	c.924G>A	NM_001905.4	NP_001896.2:p.(Thr308=)	NC_000001.10:g.41463117G>A	(Likely) benign	1 lab	2715e5557b
1:16344307 HSPB7 T>C	1	16344307	16344307	T	C	HSPB7	c.152A>G	NM_014424.5	NP_055239.1:p.(Asp51Gly)	NC_000001.10:g.16344307T>C	VUS	1 lab	8e71e987f5
2:48030770 MSH6 T>C	2	48030770	48030770	T	C	MSH6	c.3384T>C	NM_000179.3	NP_000170.1:p.(Tyr1128=)	NC_000002.11:g.48030770T>C	(Likely) benign	1 lab	8e74b58974
2:189916926 COL5A2 G>A	2	189916926	189916926	G	A	COL5A2	c.2741C>T	NM_000393.5	NP_000384.2:p.(Ala914Val)	NC_000002.11:g.189916926G>A	VUS	1 lab	27162e1cb0
3:107435578 BBX C>G	3	107435578	107435578	C	G	BBX	c.287C>G	NM_001142568.3	NP_001136040.1:p.(Ser96Cys)	NC_000003.11:g.107435578C>G	VUS	1 lab	8e74db485c
13:32913710 BRCA2 TTAAG>T	13	32913710	32913717	TTAAG	T	BRCA2	c.5222_5225del	NM_000059.4	NP_000050.3:p.(Ser1741ThrfsTer35)	NC_000013.10:g.32913714_32913717del	(Likely) pathogenic	1 lab	8e754fcf53
6:15496730 JARID2 GGCAGCTGCGGGAGGGCCT>G	6	15496730	15496763	GGCAGCTGCGGGAGGGCCT	G	JARID2	c.1290_1307del	NM_004973.4	NP_004964.2:p.(Gln432_Leu437del)	NC_000006.11:g.15496746_15496763del	VUS	1 lab	259c0bea6c
1:1455661 ATAD3A C>T	1	1455661	1455661	C	T	ATAD3A	c.655C>T	NM_001170535.3	NP_001164006.1:p.(Arg219Cys)	NC_000001.10:g.1455661C>T	VUS	1 lab	8e7918b8ba
6:152651397 SYNE1 G>A	6	152651397	152651397	G	A	SYNE1	c.14423C>T	NM_182961.4	NP_892006.3:p.(Thr4808Met)	NC_000006.11:g.152651397G>A	VUS	1 lab	8e7a14d209
X:77245297 ATP7A G>T	X	77245297	77245297	G	T	ATP7A	c.1179G>T	NM_000052.7	NP_000043.4:p.(Gln393His)	NC_000023.10:g.77245297G>T	VUS	1 lab	8e7aa5ccb9
6:110942579 CDK19 A>T	6	110942579	110942579	A	T	CDK19	c.1111-6T>A	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110942579A>T	(Likely) benign	1 lab	8e7abb565e
15:40631786 CCDC9B C>G	15	40631786	40631786	C	G	CCDC9B	c.158G>C	NM_207380.3	NP_997263.3:p.(Gly53Ala)	NC_000015.9:g.40631786C>G	(Likely) benign	1 lab	8e7b8b3808
15:89388979 ACAN T>C	15	89388979	89388979	T	C	ACAN	c.1295T>C	NM_001369268.1	NP_001356197.1:p.(Val432Ala)	NC_000015.9:g.89388979T>C	(Likely) benign	1 lab	8e7c2036be
7:107569962 LAMB1 A>G	7	107569962	107569962	A	G	LAMB1	c.4640T>C	NM_002291.3	NP_002282.2:p.(Ile1547Thr)	NC_000007.13:g.107569962A>G	(Likely) benign	1 lab	8e7fe6a1df
13:45149843 TSC22D1 G>A	13	45149843	45149843	G	A	TSC22D1	c.368C>T	NM_183422.4	NP_904358.2:p.(Ala123Val)	NC_000013.10:g.45149843G>A	(Likely) benign	1 lab	8e80136120
2:240036742 HDAC4 C>T	2	240036742	240036742	C	T	HDAC4	c.1791+7G>A	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240036742C>T	(Likely) benign	1 lab	8e804febbc
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	8e80ecbe89
2:100210150 AFF3 A>T	2	100210150	100210150	A	T	AFF3	c.1973T>A	NM_001386135.1	NP_001373064.1:p.(Ile658Asn)	NC_000002.11:g.100210150A>T	VUS	1 lab	8e81cd04b3
14:50585064 SOS2 A>G	14	50585064	50585064	A	G	SOS2	c.3997T>C	NM_006939.4	NP_008870.2:p.(Ter1333ArgextTer2)	NC_000014.8:g.50585064A>G	VUS	1 lab	8e8265225a
5:176562635 NSD1 T>A	5	176562635	176562635	T	A	NSD1	c.531T>A	NM_022455.5	NP_071900.2:p.(Asp177Glu)	NC_000005.9:g.176562635T>A	(Likely) benign	1 lab	8e82785597
10:73103990 SLC29A3 G>A	10	73103990	73103990	G	A	SLC29A3	c.325G>A	NM_018344.6	NP_060814.4:p.(Val109Ile)	NC_000010.10:g.73103990G>A	(Likely) benign	1 lab	8e8313217d
12:2682123 CACNA1C T>C	12	2682123	2682123	T	C	CACNA1C	c.1895+5163T>C	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2682123T>C	(Likely) benign	1 lab	8e844b208a
21:47423661 COL6A1 C>G	21	47423661	47423661	C	G	COL6A1	c.2821C>G	NM_001848.3	NP_001839.2:p.(Leu941Val)	NC_000021.8:g.47423661C>G	VUS	1 lab	8e855fa251
7:31003730 GHRHR C>T	7	31003730	31003730	C	T	GHRHR	c.47C>T	NM_000823.4	NP_000814.2:p.(Pro16Leu)	NC_000007.13:g.31003730C>T	(Likely) benign	1 lab	8e886f42d0
2:220338219 SPEG C>T	2	220338219	220338219	C	T	SPEG	c.4148-7C>T	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220338219C>T	(Likely) benign	1 lab	8e89966c86
14:24608353 EMC9 C>T	14	24608353	24608353	C	T	EMC9	c.493G>A	NM_016049.4	NP_057133.2:p.(Glu165Lys)	NC_000014.8:g.24608353C>T	(Likely) benign	1 lab	8e8a3b809b
4:170613334 CLCN3 A>G	4	170613334	170613334	A	G	CLCN3	c.799A>G	NM_001829.4	NP_001820.2:p.(Ile267Val)	NC_000004.11:g.170613334A>G	VUS	1 lab	8e8a838e48
1:151396425 POGZ C>T	1	151396425	151396425	C	T	POGZ	c.1523G>A	NM_015100.4	NP_055915.2:p.(Arg508Gln)	NC_000001.10:g.151396425C>T	(Likely) pathogenic	1 lab	8e8cf1c13a
6:83892662 PGM3 TG>T	6	83892662	83892663	TG	T	PGM3	c.492del	NM_015599.3	NP_056414.1:p.(Tyr164Ter)	NC_000006.11:g.83892663del	VUS	1 lab	8e907943e7
12:114832580 TBX5 G>A	12	114832580	114832580	G	A	TBX5	c.629C>T	NM_181486.4	NP_852259.1:p.(Ala210Val)	NC_000012.11:g.114832580G>A	VUS	1 lab	8e929a77ec
2:132021568 POTEE G>A	2	132021568	132021568	G	A	POTEE	c.2540G>A	NM_001083538.3	NP_001077007.1:p.(Arg847His)	NC_000002.11:g.132021568G>A	VUS	1 lab	8e92d5e593
1:32090615 HCRTR1 G>A	1	32090615	32090615	G	A	HCRTR1	c.983G>A	NM_001525.3	NP_001516.2:p.(Arg328His)	NC_000001.10:g.32090615G>A	(Likely) benign	1 lab	8e939ef9ef
20:29965177 DEFB119 C>T	20	29965177	29965177	C	T	DEFB119	c.127G>A	NM_153289.4	NP_695021.2:p.(Glu43Lys)	NC_000020.10:g.29965177C>T	VUS	1 lab	8e93bf6135
3:18390955 SATB1 C>T	3	18390955	18390955	C	T	SATB1	c.1999G>A	NM_002971.6	NP_002962.1:p.(Gly667Ser)	NC_000003.11:g.18390955C>T	VUS	1 lab	8e951d258e
6:42045283 TAF8 A>C	6	42045283	42045283	A	C	TAF8	c.933A>C	NM_138572.3	NP_612639.2:p.(Ter311CysextTer28)	NC_000006.11:g.42045283A>C	VUS	1 lab	8e976b5129
X:140994586 MAGEC1 A>G	X	140994586	140994586	A	G	MAGEC1	c.1396A>G	NM_005462.5	NP_005453.2:p.(Thr466Ala)	NC_000023.10:g.140994586A>G	(Likely) benign	1 lab	8e98570030
1:225586901 DNAH14 C>A	1	225586901	225586901	C	A	DNAH14	c.13784C>A	NM_001367479.1	NP_001354408.1:p.(Ser4595Ter)	NC_000001.10:g.225586901C>A	(Likely) benign	1 lab	8e99224506
1:17380429 SDHB GCTCCAGGACTCAC>G	1	17380429	17380444	GCTCCAGGACTCAC	G	SDHB	c.72+1_72+13del	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17380432_17380444del	(Likely) pathogenic	1 lab	8e99c3f3db
13:96294113 DZIP1 C>CG	13	96294113	96294119	C	CG	DZIP1	c.37-5dup	NM_198968.4	NP_945319.1:p.?	NC_000013.10:g.96294119dup	VUS	1 lab	8e9c623c60
15:101606910 LRRK1 T>C	15	101606910	101606910	T	C	LRRK1	c.5834T>C	NM_024652.6	NP_078928.3:p.(Ile1945Thr)	NC_000015.9:g.101606910T>C	VUS	1 lab	8e9ea0622b
17:27857428 TAOK1 A>T	17	27857428	27857428	A	T	TAOK1	c.2152A>T	NM_020791.4	NP_065842.1:p.(Lys718Ter)	NC_000017.10:g.27857428A>T	(Likely) pathogenic	1 lab	8e9ec4ac5a
2:240056097 HDAC4 C>T	2	240056097	240056097	C	T	HDAC4	c.1138G>A	NM_001378414.1	NP_001365343.1:p.(Ala380Thr)	NC_000002.11:g.240056097C>T	(Likely) benign	1 lab	8e9effd581
17:63533789 AXIN2 T>G	17	63533789	63533789	T	G	AXIN2	c.1365A>C	NM_004655.3	NP_004646.3:p.(Pro455=)	NC_000017.10:g.63533789T>G	VUS	1 lab	271d5199e5
3:196888552 DLG1 C>G	3	196888552	196888552	C	G	DLG1	c.484-11885G>C	NM_001366207.1	NP_001353136.1:p.?	NC_000003.11:g.196888552C>G	(Likely) benign	1 lab	8ea049d457
1:6228261 CHD5 T>A	1	6228261	6228261	T	A	CHD5	c.156A>T	NM_015557.3	NP_056372.1:p.(Lys52Asn)	NC_000001.10:g.6228261T>A	(Likely) benign	1 lab	8ea1138833
5:98205267 CHD1 A>T	5	98205267	98205267	A	T	CHD1	c.4107+191T>A	NM_001270.4	NP_001261.2:p.?	NC_000005.9:g.98205267A>T	(Likely) benign	1 lab	8ea39e67c4
7:99702533 AP4M1 C>T	7	99702533	99702533	C	T	AP4M1	c.643C>T	NM_004722.4	NP_004713.2:p.(Arg215Trp)	NC_000007.13:g.99702533C>T	VUS	1 lab	8ea3eb1a06
2:233001206 DIS3L2 C>A	2	233001206	233001206	C	A	DIS3L2	c.727C>A	NM_152383.5	NP_689596.4:p.(His243Asn)	NC_000002.11:g.233001206C>A	VUS	1 lab	8ea4035792
17:72588388 CD300LD C>A	17	72588388	72588388	C	A	CD300LD	c.-47G>T	NM_001115152.2	NP_001108624.1:p.?	NC_000017.10:g.72588388C>A	VUS	1 lab	8ea46b624b
X:152830535 ATP2B3 C>T	X	152830535	152830535	C	T	ATP2B3	c.3316C>T	NM_001001344.3	NP_001001344.1:p.(Arg1106Trp)	NC_000023.10:g.152830535C>T	VUS	1 lab	8ea58a124a
1:1685639 NADK C>T	1	1685639	1685639	C	T	NADK	c.952G>A	NM_023018.5	NP_075394.3:p.(Val318Met)	NC_000001.10:g.1685639C>T	VUS	1 lab	8ea774a869
3:129147297 EFCAB12 AAC>A	3	129147297	129147300	AAC	A	EFCAB12	c.33_34del	NM_207307.3	NP_997190.1:p.(Phe12LeufsTer10)	NC_000003.11:g.129147299_129147300del	(Likely) benign	1 lab	8ea7bc1600
16:2165459 PKD1 G>C	16	2165459	2165459	G	C	PKD1	c.2017C>G	NM_001009944.2	NP_001009944.2:p.(Pro673Ala)	NC_000016.9:g.2165459G>C	(Likely) benign	1 lab	271f0ff4dd
19:42880569 MEGF8 G>A	19	42880569	42880569	G	A	MEGF8	c.8180G>A	NM_001271938.2	NP_001258867.1:p.(Arg2727His)	NC_000019.9:g.42880569G>A	VUS	1 lab	8eac1ee1b6
3:48508198 TREX1 C>G	3	48508198	48508198	C	G	TREX1	c.144C>G	NM_033629.6	NP_338599.1:p.(Pro48=)	NC_000003.11:g.48508198C>G	(Likely) benign	1 lab	8eacf24298
19:42828908 TMEM145 C>G	19	42828908	42828908	C	G	TMEM145	c.1421C>G	NM_173633.3	NP_775904.2:p.(Pro474Arg)	NC_000019.9:g.42828908C>G	(Likely) benign	1 lab	8ead05bc1c
3:4774803 ITPR1 G>A	3	4774803	4774803	G	A	ITPR1	c.5252G>A	NM_001378452.1	NP_001365381.1:p.(Arg1751His)	NC_000003.11:g.4774803G>A	VUS	1 lab	8ead31c972
3:128614245 ACAD9 G>A	3	128614245	128614245	G	A	ACAD9	c.439G>A	NM_014049.5	NP_054768.2:p.(Ala147Thr)	NC_000003.11:g.128614245G>A	VUS	1 lab	8eadfc8dfc
16:69202776 UTP4 G>A	16	69202776	69202776	G	A	UTP4	c.1997G>A	NM_032830.3	NP_116219.2:p.(Arg666Gln)	NC_000016.9:g.69202776G>A	VUS	1 lab	8eae321d79
10:88993863 NUTM2A C>T	10	88993863	88993863	C	T	NUTM2A	c.2035C>T	NM_001099338.2	NP_001092808.1:p.(Arg679Trp)	NC_000010.10:g.88993863C>T	(Likely) benign	1 lab	8eaf984616
X:148579789 IDS A>G	X	148579789	148579789	A	G	IDS	c.557T>C	NM_000202.8	NP_000193.1:p.(Val186Ala)	NC_000023.10:g.148579789A>G	(Likely) benign	1 lab	8eafa92792
7:16341073 CRPPA G>A	7	16341073	16341073	G	A	CRPPA	c.808C>T	NM_001101426.4	NP_001094896.1:p.(Leu270Phe)	NC_000007.13:g.16341073G>A	(Likely) benign	1 lab	8eb0a03d28
11:6662034 DCHS1 C>A	11	6662034	6662034	C	A	DCHS1	c.811G>T	NM_003737.4	NP_003728.1:p.(Gly271Cys)	NC_000011.9:g.6662034C>A	VUS	1 lab	8eb122d21d
7:42018329 GLI3 T>C	7	42018329	42018329	T	C	GLI3	c.1516A>G	NM_000168.6	NP_000159.3:p.(Ile506Val)	NC_000007.13:g.42018329T>C	(Likely) benign	1 lab	8eb2890885
3:143186042 SLC9A9 A>G	3	143186042	143186042	A	G	SLC9A9	c.1316-10T>C	NM_173653.4	NP_775924.1:p.?	NC_000003.11:g.143186042A>G	(Likely) benign	1 lab	8ec0a7c4cf
2:232326378 NCL G>GTCCTCGTCA	2	232326378	232326392	G	GTCCTCGTCA	NCL	c.477_485dup	NM_005381.3	NP_005372.2:p.(Asp160_Asp162dup)	NC_000002.11:g.232326384_232326392dup	VUS	1 lab	8eb5074c9a
2:168101888 XIRP2 G>A	2	168101888	168101888	G	A	XIRP2	c.3986G>A	NM_152381.6	NP_689594.4:p.(Gly1329Glu)	NC_000002.11:g.168101888G>A	VUS	1 lab	8eb54ca34c
11:5655036 TRIM34 G>C	11	5655036	5655036	G	C	TRIM34	c.426G>C	NM_021616.6	NP_067629.2:p.(Glu142Asp)	NC_000011.9:g.5655036G>C	(Likely) benign	1 lab	8eb5f3c948
3:118866093 TEX55 C>G	3	118866093	118866093	C	G	TEX55	c.1057C>G	NM_152539.3	NP_689752.2:p.(Gln353Glu)	NC_000003.11:g.118866093C>G	(Likely) benign	1 lab	8eb626949f
X:153716294 SLC10A3 A>G	X	153716294	153716294	A	G	SLC10A3	c.986T>C	NM_019848.5	NP_062822.1:p.(Phe329Ser)	NC_000023.10:g.153716294A>G	VUS	1 lab	8eb72527ab
6:129573274 LAMA2 C>G	6	129573274	129573274	C	G	LAMA2	c.1930C>G	NM_000426.4	NP_000417.3:p.(His644Asp)	NC_000006.11:g.129573274C>G	(Likely) benign	1 lab	8eb7519f3d
1:156917248 ARHGEF11 C>T	1	156917248	156917248	C	T	ARHGEF11	c.2342-6G>A	NM_198236.3	NP_937879.1:p.?	NC_000001.10:g.156917248C>T	(Likely) benign	1 lab	8eb87bebea
4:113567920 LARP7 TCTAATATTGCTTTTAATTTATAATAGGAGTTA>T	4	113567920	113567954	TCTAATATTGCTTTTAATTTATAATAGGAGTTA	T	LARP7	c.388-24_395del	NM_016648.4	NP_057732.2:p.?	NC_000004.11:g.113567923_113567954del	VUS	1 lab	8eb90e0271
16:84182715 DNAAF1 C>T	16	84182715	84182715	C	T	DNAAF1	c.228C>T	NM_178452.6	NP_848547.4:p.(His76=)	NC_000016.9:g.84182715C>T	(Likely) benign	1 lab	8eb9fa87f1
1:237947415 RYR2 C>T	1	237947415	237947415	C	T	RYR2	c.12403C>T	NM_001035.3	NP_001026.2:p.(Arg4135Cys)	NC_000001.10:g.237947415C>T	VUS	1 lab	8ebae54071
19:50413019 NUP62 A>C	19	50413019	50413019	A	C	NUP62	c.46T>G	NM_016553.5	NP_057637.2:p.(Phe16Val)	NC_000019.9:g.50413019A>C	(Likely) benign	1 lab	259e614cd1
2:73777462 ALMS1 G>C	2	73777462	73777462	G	C	ALMS1	c.9976G>C	NM_001378454.1	NP_001365383.1:p.(Ala3326Pro)	NC_000002.11:g.73777462G>C	(Likely) benign	1 lab	8ebb03c98d
16:11945350 RSL1D1 G>A	16	11945350	11945350	G	A	RSL1D1	c.20C>T	NM_015659.3	NP_056474.2:p.(Ala7Val)	NC_000016.9:g.11945350G>A	(Likely) benign	1 lab	8ebb1b48cf
X:48683011 HDAC6 C>T	X	48683011	48683011	C	T	HDAC6	c.3637C>T	NM_006044.4	NP_006035.2:p.(His1213Tyr)	NC_000023.10:g.48683011C>T	VUS	1 lab	8ebc2ad64b
8:11566044 GATA4 G>T	8	11566044	11566044	G	T	GATA4	c.223G>T	NM_001308093.3	NP_001295022.1:p.(Ala75Ser)	NC_000008.10:g.11566044G>T	(Likely) benign	1 lab	8ebcd0abb2
16:88925206 TRAPPC2L T>C	16	88925206	88925206	T	C	TRAPPC2L	c.206+7T>C	NM_001318525.2	NP_001305454.1:p.?	NC_000016.9:g.88925206T>C	VUS	1 lab	8ec164fd87
11:103074443 DYNC2H1 C>A	11	103074443	103074443	C	A	DYNC2H1	c.8249C>A	NM_001377.3	NP_001368.2:p.(Pro2750Gln)	NC_000011.9:g.103074443C>A	(Likely) benign	1 lab	8ec1782caf
16:75690326 TERF2IP T>C	16	75690326	75690326	T	C	TERF2IP	c.1017T>C	NM_018975.4	NP_061848.2:p.(Asn339=)	NC_000016.9:g.75690326T>C	VUS	1 lab	8ec1f3f947
3:4490964 SUMF1 T>G	3	4490964	4490964	T	G	SUMF1	c.505A>C	NM_182760.4	NP_877437.2:p.(Asn169His)	NC_000003.11:g.4490964T>G	(Likely) benign	1 lab	8ec5e4b8cc
1:40030957 PABPC4 G>A	1	40030957	40030957	G	A	PABPC4	c.1066C>T	NM_001135653.2	NP_001129125.1:p.(Arg356Cys)	NC_000001.10:g.40030957G>A	VUS	1 lab	8ec655e07c
20:60892794 LAMA5 T>TGCAGGGTGGCATTGTCCC	20	60892794	60892813	T	TGCAGGGTGGCATTGTCCC	LAMA5	c.7262_7279dup	NM_005560.6	NP_005551.3:p.(Arg2421_Leu2426dup)	NC_000020.10:g.60892796_60892813dup	VUS	1 lab	8ec6592afa
6:152675897 SYNE1 T>C	6	152675897	152675897	T	C	SYNE1	c.10823A>G	NM_182961.4	NP_892006.3:p.(Gln3608Arg)	NC_000006.11:g.152675897T>C	(Likely) benign	1 lab	8ec815c8d6
7:56088789 PSPH G>A	7	56088789	56088789	G	A	PSPH	c.117C>T	NM_004577.4	NP_004568.2:p.(Gly39=)	NC_000007.13:g.56088789G>A	(Likely) benign	1 lab	8ec9681e89
17:70120425 SOX9 TG>T	17	70120425	70120426	TG	T	SOX9	c.1428del	NM_000346.4	NP_000337.1:p.(Met476IlefsTer47)	NC_000017.10:g.70120426del	(Likely) pathogenic	1 lab	8eca3b3727
17:20946054 USP22 T>A	17	20946054	20946054	T	A	USP22	c.95A>T	NM_015276.2	NP_056091.1:p.(Asp32Val)	NC_000017.10:g.20946054T>A	VUS	1 lab	8ecbf06889
6:32818914 TAP1 G>A	6	32818914	32818914	G	A	TAP1	c.857C>T	NM_000593.6	NP_000584.3:p.(Ser286Phe)	NC_000006.11:g.32818914G>A	(Likely) benign	1 lab	8ecefd1f4a
1:22199482 HSPG2 G>A	1	22199482	22199482	G	A	HSPG2	c.3888+8C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22199482G>A	(Likely) benign	1 lab	8ed00b0f55
3:178928304 PIK3CA A>G	3	178928304	178928304	A	G	PIK3CA	c.1490A>G	NM_006218.4	NP_006209.2:p.(Asn497Ser)	NC_000003.11:g.178928304A>G	(Likely) benign	1 lab	8ed0470e2b
12:121432080 HNF1A C>A	12	121432080	121432080	C	A	HNF1A	c.827C>A	NM_000545.8	NP_000536.6:p.(Ala276Asp)	NC_000012.11:g.121432080C>A	(Likely) pathogenic	1 lab	8ed0fec91a
1:202700068 KDM5B C>T	1	202700068	202700068	C	T	KDM5B	c.4145G>A	NM_006618.5	NP_006609.3:p.(Arg1382Gln)	NC_000001.10:g.202700068C>T	(Likely) benign	1 lab	8ed16d1bb6
3:15685955 BTD G>A	3	15685955	15685955	G	A	BTD	c.532G>A	NM_001370658.1	NP_001357587.1:p.(Val178Ile)	NC_000003.11:g.15685955G>A	VUS	1 lab	8ed2bc17f0
1:151262645 ZNF687 C>T	1	151262645	151262645	C	T	ZNF687	c.3012C>T	NM_020832.3	NP_065883.1:p.(Ser1004=)	NC_000001.10:g.151262645C>T	(Likely) benign	1 lab	8ed2deb702
19:13318591 CACNA1A G>A	19	13318591	13318591	G	A	CACNA1A	c.7057C>T	NM_001127222.2	NP_001120694.1:p.(Arg2353Trp)	NC_000019.9:g.13318591G>A	(Likely) benign	1 lab	8ed68d8f39
15:89415284 ACAN G>A	15	89415284	89415284	G	A	ACAN	c.7270G>A	NM_001369268.1	NP_001356197.1:p.(Gly2424Arg)	NC_000015.9:g.89415284G>A	VUS	1 lab	8ed6b49f03
12:3048504 TULP3 G>A	12	3048504	3048504	G	A	TULP3	c.1223G>A	NM_003324.5	NP_003315.2:p.(Arg408His)	NC_000012.11:g.3048504G>A	(Likely) pathogenic	1 lab	25a01d3f4b
12:2702468 CACNA1C A>G	12	2702468	2702468	A	G	CACNA1C	c.2620A>G	NM_000719.7	NP_000710.5:p.(Met874Val)	NC_000012.11:g.2702468A>G	VUS	1 lab	8ed8c41daf
10:112349741 SMC3 A>G	10	112349741	112349741	A	G	SMC3	c.1501A>G	NM_005445.4	NP_005436.1:p.(Thr501Ala)	NC_000010.10:g.112349741A>G	VUS	1 lab	8edd96e979
8:87679225 CNGB3 A>T	8	87679225	87679225	A	T	CNGB3	c.780T>A	NM_019098.5	NP_061971.3:p.(Cys260Ter)	NC_000008.10:g.87679225A>T	VUS	1 lab	8eddb09fa3
6:2954904 SERPINB6 T>C	6	2954904	2954904	T	C	SERPINB6	c.352A>G	NM_004568.6	NP_004559.4:p.(Met118Val)	NC_000006.11:g.2954904T>C	VUS	1 lab	8ede1dc9c8
13:115090978 CHAMP1 C>T	13	115090978	115090978	C	T	CHAMP1	c.1661C>T	NM_032436.4	NP_115812.1:p.(Pro554Leu)	NC_000013.10:g.115090978C>T	VUS	1 lab	8ede58562b
11:73070879 ARHGEF17 G>A	11	73070879	73070879	G	A	ARHGEF17	c.4088G>A	NM_014786.4	NP_055601.2:p.(Gly1363Glu)	NC_000011.9:g.73070879G>A	(Likely) benign	1 lab	8ede7748d1
19:18276981 PIK3R2 G>T	19	18276981	18276981	G	T	PIK3R2	c.1428G>T	NM_005027.4	NP_005018.2:p.(Met476Ile)	NC_000019.9:g.18276981G>T	VUS	1 lab	8edfd81481
1:149898809 SF3B4 G>A	1	149898809	149898809	G	A	SF3B4	c.165C>T	NM_005850.5	NP_005841.1:p.(Gly55=)	NC_000001.10:g.149898809G>A	(Likely) benign	1 lab	8edfee27e5
20:44048036 PIGT G>A	20	44048036	44048036	G	A	PIGT	c.594+1G>A	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44048036G>A	(Likely) pathogenic	1 lab	8ee1164915
5:14358374 TRIO C>T	5	14358374	14358374	C	T	TRIO	c.2134C>T	NM_007118.4	NP_009049.2:p.(Arg712Cys)	NC_000005.9:g.14358374C>T	VUS	1 lab	8ee14bef3a
20:45221144 SLC13A3 C>T	20	45221144	45221144	C	T	SLC13A3	c.819G>A	NM_022829.6	NP_073740.2:p.(Val273=)	NC_000020.10:g.45221144C>T	VUS	1 lab	8ee2cfae11
22:31022435 TCN2 CTG>C	22	31022435	31022438	CTG	C	TCN2	c.1223-10_1223-9del	NM_000355.4	NP_000346.2:p.?	NC_000022.10:g.31022437_31022438del	(Likely) benign	1 lab	8ee3723744
15:100591914 ADAMTS17 TC>T	15	100591914	100591915	TC	T	ADAMTS17	c.2317del	NM_139057.4	NP_620688.2:p.(Asp773IlefsTer12)	NC_000015.9:g.100591915del	(Likely) pathogenic	1 lab	8ee42d1e45
2:72722641 EXOC6B A>G	2	72722641	72722641	A	G	EXOC6B	c.1471T>C	NM_015189.3	NP_056004.1:p.(Ser491Pro)	NC_000002.11:g.72722641A>G	VUS	1 lab	8ee82bc470
3:172166144 GHSR G>A	3	172166144	172166144	G	A	GHSR	c.60C>T	NM_198407.2	NP_940799.1:p.(Asp20=)	NC_000003.11:g.172166144G>A	(Likely) benign	1 lab	8ee9c9a542
1:170513949 GORAB C>T	1	170513949	170513949	C	T	GORAB	c.625C>T	NM_152281.3	NP_689494.3:p.(Arg209Trp)	NC_000001.10:g.170513949C>T	VUS	1 lab	8eea0d9b9d
16:15811097 MYH11 G>A	16	15811097	15811097	G	A	MYH11	c.5404C>T	NM_002474.3	NP_002465.1:p.(His1802Tyr)	NC_000016.9:g.15811097G>A	(Likely) benign	1 lab	8eeb19eeb3
10:81466340 NUTM2B A>G	10	81466340	81466340	A	G	NUTM2B	c.925A>G	NM_001278495.2	NP_001265424.1:p.(Ser309Gly)	NC_000010.10:g.81466340A>G	(Likely) benign	1 lab	8eeb89aadc
X:18929037 PHKA2 G>A	X	18929037	18929037	G	A	PHKA2	c.2179C>T	NM_000292.3	NP_000283.1:p.(Arg727Cys)	NC_000023.10:g.18929037G>A	VUS	1 lab	8eec0f4309
17:56326931 LPO A>C	17	56326931	56326931	A	C	LPO	c.448A>C	NM_006151.3	NP_006142.1:p.(Lys150Gln)	NC_000017.10:g.56326931A>C	(Likely) benign	1 lab	8eec967cdc
4:1807135 FGFR3 C>G	4	1807135	1807135	C	G	FGFR3	c.1466C>G	NM_000142.5	NP_000133.1:p.(Ala489Gly)	NC_000004.11:g.1807135C>G	VUS	1 lab	25a53ba52e
6:117243181 RFX6 CT>C	6	117243181	117243195	CT	C	RFX6	c.1328-10del	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243195del	(Likely) benign	1 lab	8eedd651b6
1:976598 AGRN C>T	1	976598	976598	C	T	AGRN	c.773C>T	NM_198576.4	NP_940978.2:p.(Thr258Ile)	NC_000001.10:g.976598C>T	(Likely) benign	1 lab	8ef3f6d373
16:2818066 SRRM2 A>G	16	2818066	2818066	A	G	SRRM2	c.7537A>G	NM_016333.4	NP_057417.3:p.(Thr2513Ala)	NC_000016.9:g.2818066A>G	(Likely) benign	1 lab	8ef5421abc
17:648776 GEMIN4 AAG>A	17	648776	648783	AAG	A	GEMIN4	c.2505_2506del	NM_015721.3	NP_056536.2:p.(Leu836GlyfsTer8)	NC_000017.10:g.648782_648783del	VUS	1 lab	8ef60391d9
3:131186928 MRPL3 T>C	3	131186928	131186928	T	C	MRPL3	c.894+7A>G	NM_007208.4	NP_009139.1:p.?	NC_000003.11:g.131186928T>C	(Likely) benign	1 lab	8f00177ee2
2:152354227 NEB T>TAA	2	152354227	152354229	T	TAA	NEB	c.24211_24212dup	NM_001164508.2	NP_001157980.2:p.(Leu8071PhefsTer75)	NC_000002.11:g.152354228_152354229dup	VUS	1 lab	8ef662b09b
9:135947053 CEL G>A	9	135947053	135947053	G	A	CEL	c.2164G>A	NM_001807.6	NP_001798.3:p.(Ala722Thr)	NC_000009.11:g.135947053G>A	(Likely) benign	1 lab	8ef72bca6b
13:110847442 COL4A1 C>T	13	110847442	110847442	C	T	COL4A1	c.1309G>A	NM_001845.6	NP_001836.3:p.(Gly437Arg)	NC_000013.10:g.110847442C>T	(Likely) pathogenic	1 lab	8ef783e312
17:30322658 SUZ12 T>C	17	30322658	30322658	T	C	SUZ12	c.1671T>C	NM_015355.4	NP_056170.2:p.(Tyr557=)	NC_000017.10:g.30322658T>C	(Likely) benign	1 lab	8ef80fb0ff
1:155640115 YY1AP1 C>T	1	155640115	155640115	C	T	YY1AP1	c.724G>A	NM_139119.3	NP_620830.1:p.(Asp242Asn)	NC_000001.10:g.155640115C>T	(Likely) benign	1 lab	8ef8afee3e
6:129601267 LAMA2 G>A	6	129601267	129601267	G	A	LAMA2	c.2512G>A	NM_000426.4	NP_000417.3:p.(Gly838Arg)	NC_000006.11:g.129601267G>A	VUS	1 lab	8ef9dfe6e0
X:101724086 TCP11X2 C>T	X	101724086	101724086	C	T	TCP11X2	c.128-31G>A	NM_001405027.1	NP_001391956.1:p.?	NC_000023.10:g.101724086C>T	(Likely) benign	1 lab	8efa91b858
12:48374410 COL2A1 T>C	12	48374410	48374410	T	C	COL2A1	c.2552A>G	NM_001844.5	NP_001835.3:p.(Gln851Arg)	NC_000012.11:g.48374410T>C	VUS	1 lab	8efb9c7e83
15:65116304 PIF1 G>C	15	65116304	65116304	G	C	PIF1	c.231C>G	NM_001286496.2	NP_001273425.1:p.(Phe77Leu)	NC_000015.9:g.65116304G>C	VUS	1 lab	8efbb8c2ad
14:31582572 HECTD1 T>C	14	31582572	31582572	T	C	HECTD1	c.5975A>G	NM_015382.4	NP_056197.3:p.(Gln1992Arg)	NC_000014.8:g.31582572T>C	VUS	1 lab	8efc8ee4e8
2:179434366 TTN G>A	2	179434366	179434366	G	A	TTN	c.76493C>T	NM_001267550.2	NP_001254479.2:p.(Pro25498Leu)	NC_000002.11:g.179434366G>A	VUS	1 lab	25a5817f11
2:71913584 DYSF A>AACT	2	71913584	71913588	A	AACT	DYSF	c.6324_6326dup	NM_001130987.2	NP_001124459.1:p.(Tyr2109dup)	NC_000002.11:g.71913586_71913588dup	(Likely) pathogenic	1 lab	8efe0dd147
21:47835979 PCNT G>A	21	47835979	47835979	G	A	PCNT	c.6151-4G>A	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47835979G>A	(Likely) benign	1 lab	8efeaca4d8
9:40702357 SPATA31A3 G>T	9	40702357	40702357	G	T	SPATA31A3	c.269G>T	NM_001083124.1	NP_001076593.1:p.(Gly90Val)	NC_000009.11:g.40702357G>T	VUS	1 lab	8efeb852ca
7:47947836 PKD1L1 T>C	7	47947836	47947836	T	C	PKD1L1	c.1240A>G	NM_138295.5	NP_612152.1:p.(Met414Val)	NC_000007.13:g.47947836T>C	(Likely) benign	1 lab	8eff861f9b
11:68197061 LRP5 G>A	11	68197061	68197061	G	A	LRP5	c.3656G>A	NM_002335.4	NP_002326.2:p.(Arg1219His)	NC_000011.9:g.68197061G>A	VUS	1 lab	8f00a7cd9c
1:200870222 INAVA G>A	1	200870222	200870222	G	A	INAVA	c.455G>A	NM_001142569.3	NP_001136041.1:p.(Arg152His)	NC_000001.10:g.200870222G>A	(Likely) benign	1 lab	8f017d87a0
16:88909506 GALNS A>C	16	88909506	88909506	A	C	GALNS	c.121-269T>G	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909506A>C	VUS	1 lab	8f01bb3cb3
X:2825440 ARSD G>A	X	2825440	2825440	G	A	ARSD	c.1654C>T	NM_001669.4	NP_001660.2:p.(Arg552Trp)	NC_000023.10:g.2825440G>A	(Likely) benign	1 lab	8f03c1c871
19:11144086 SMARCA4 A>C	19	11144086	11144086	A	C	SMARCA4	c.3667A>C	NM_003072.5	NP_003063.2:p.(Asn1223His)	NC_000019.9:g.11144086A>C	VUS	1 lab	8f05de27d7
16:30750431 SRCAP G>A	16	30750431	30750431	G	A	SRCAP	c.9070G>A	NM_006662.3	NP_006653.2:p.(Val3024Ile)	NC_000016.9:g.30750431G>A	VUS	1 lab	8f0630dd1d
3:125032502 ZNF148 T>C	3	125032502	125032502	T	C	ZNF148	c.-16-2A>G	NM_021964.3	NP_068799.2:p.?	NC_000003.11:g.125032502T>C	VUS	1 lab	8f088cab39
2:220316376 SPEG C>T	2	220316376	220316376	C	T	SPEG	c.2287C>T	NM_005876.5	NP_005867.3:p.(Arg763Cys)	NC_000002.11:g.220316376C>T	(Likely) benign	1 lab	8f0afafc66
4:1795557 FGFR3 T>C	4	1795557	1795557	T	C	FGFR3	c.-102-3T>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795557T>C	(Likely) benign	1 lab	8f0b2a3dea
2:179407781 TTN C>T	2	179407781	179407781	C	T	TTN	c.96904+15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407781C>T	(Likely) benign	1 lab	8f0cd0f568
16:70530261 COG4 T>C	16	70530261	70530261	T	C	COG4	c.1555A>G	NM_015386.3	NP_056201.2:p.(Ser519Gly)	NC_000016.9:g.70530261T>C	VUS	1 lab	8f0cd7dd92
8:95863909 INTS8 A>T	8	95863909	95863909	A	T	INTS8	c.1636A>T	NM_017864.4	NP_060334.2:p.(Asn546Tyr)	NC_000008.10:g.95863909A>T	(Likely) benign	1 lab	8f0d566eb5
16:89815142 FANCA G>A	16	89815142	89815142	G	A	FANCA	c.3273C>T	NM_000135.4	NP_000126.2:p.(Cys1091=)	NC_000016.9:g.89815142G>A	(Likely) benign	1 lab	8f0f4ad045
2:152544120 NEB G>C	2	152544120	152544120	G	C	NEB	c.2523+20C>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152544120G>C	(Likely) benign	1 lab	8f0f846d12
2:112588904 ANAPC1 A>G	2	112588904	112588904	A	G	ANAPC1	c.2584T>C	NM_022662.4	NP_073153.1:p.(Tyr862His)	NC_000002.11:g.112588904A>G	VUS	1 lab	8f0fbe8c65
6:117232095 RFX6 T>C	6	117232095	117232095	T	C	RFX6	c.673-3T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117232095T>C	(Likely) benign	1 lab	8f11e68645
16:89762087 CDK10 G>A	16	89762087	89762087	G	A	CDK10	c.1070G>A	NM_052988.5	NP_443714.3:p.(Arg357His)	NC_000016.9:g.89762087G>A	VUS	1 lab	8f130e799d
4:158262606 GRIA2 T>C	4	158262606	158262606	T	C	GRIA2	c.2035T>C	NM_001083619.3	NP_001077088.2:p.(Phe679Leu)	NC_000004.11:g.158262606T>C	VUS	1 lab	8f13c07307
11:134018553 JAM3 A>G	11	134018553	134018553	A	G	JAM3	c.824A>G	NM_032801.5	NP_116190.3:p.(Asn275Ser)	NC_000011.9:g.134018553A>G	VUS	1 lab	8f183b4d65
11:67069255 ANKRD13D C>A	11	67069255	67069255	C	A	ANKRD13D	c.1565C>A	NM_207354.3	NP_997237.2:p.(Pro522His)	NC_000011.9:g.67069255C>A	VUS	1 lab	8f18a14536
X:53595734 HUWE1 T>C	X	53595734	53595734	T	C	HUWE1	c.6625A>G	NM_031407.7	NP_113584.3:p.(Met2209Val)	NC_000023.10:g.53595734T>C	VUS	1 lab	8f19048712
1:22207304 HSPG2 G>A	1	22207304	22207304	G	A	HSPG2	c.1843C>T	NM_005529.7	NP_005520.4:p.(Arg615Cys)	NC_000001.10:g.22207304G>A	VUS	1 lab	8f1994ab73
7:129946699 CPA4 G>A	7	129946699	129946699	G	A	CPA4	c.664G>A	NM_016352.4	NP_057436.2:p.(Val222Met)	NC_000007.13:g.129946699G>A	VUS	1 lab	8f1a809d11
17:39742998 KRT14 C>T	17	39742998	39742998	C	T	KRT14	c.89G>A	NM_000526.5	NP_000517.3:p.(Arg30His)	NC_000017.10:g.39742998C>T	VUS	1 lab	8f201c33ef
14:75904615 JDP2 C>A	14	75904615	75904615	C	A	JDP2	c.-9C>A	NM_001135048.2	NP_001128520.1:p.?	NC_000014.8:g.75904615C>A	VUS	1 lab	8f2196a53b
1:985036 AGRN G>T	1	985036	985036	G	T	AGRN	c.4605G>T	NM_198576.4	NP_940978.2:p.(Gly1535=)	NC_000001.10:g.985036G>T	VUS	1 lab	8f2217f703
8:144944474 EPPK1 G>A	8	144944474	144944474	G	A	EPPK1	c.2948C>T	NM_031308.4	NP_112598.3:p.(Ser983Leu)	NC_000008.10:g.144944474G>A	(Likely) benign	1 lab	8f232176f1
2:179451477 TTN G>A	2	179451477	179451477	G	A	TTN	c.64151C>T	NM_001267550.2	NP_001254479.2:p.(Thr21384Ile)	NC_000002.11:g.179451477G>A	VUS	1 lab	8f246d6449
1:55331074 DHCR24 C>A	1	55331074	55331074	C	A	DHCR24	c.922G>T	NM_014762.4	NP_055577.1:p.(Val308Leu)	NC_000001.10:g.55331074C>A	VUS	1 lab	8f25543ae6
11:696698 TMEM80 C>A	11	696698	696698	C	A	TMEM80	c.19+852C>A	NM_001042463.3	NP_001035928.3:p.?	NC_000011.9:g.696698C>A	(Likely) benign	1 lab	8f2577bc1f
19:18896679 COMP C>T	19	18896679	18896679	C	T	COMP	c.1490-18G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896679C>T	(Likely) benign	1 lab	8f25d8f4d7
19:41060528 SPTBN4 T>A	19	41060528	41060528	T	A	SPTBN4	c.5060T>A	NM_020971.3	NP_066022.2:p.(Leu1687Gln)	NC_000019.9:g.41060528T>A	VUS	1 lab	8f25dffd19
1:28326569 EYA3 C>T	1	28326569	28326569	C	T	EYA3	c.994-9G>A	NM_001990.4	NP_001981.2:p.?	NC_000001.10:g.28326569C>T	(Likely) benign	1 lab	8f28fc13f4
20:34022330 GDF5 C>T	20	34022330	34022330	C	T	GDF5	c.883G>A	NM_000557.5	NP_000548.2:p.(Asp295Asn)	NC_000020.10:g.34022330C>T	VUS	1 lab	8f298b6dff
1:35453687 ZMYM6 T>C	1	35453687	35453687	T	C	ZMYM6	c.2996A>G	NM_007167.4	NP_009098.3:p.(Glu999Gly)	NC_000001.10:g.35453687T>C	(Likely) benign	1 lab	8f29ac8375
9:79895082 VPS13A CAAG>C	9	79895082	79895087	CAAG	C	VPS13A	c.2835_2837del	NM_033305.3	NP_150648.2:p.(Lys946del)	NC_000009.11:g.79895085_79895087del	VUS	1 lab	8f29fd8e69
8:41798484 KAT6A C>T	8	41798484	41798484	C	T	KAT6A	c.2915G>A	NM_006766.5	NP_006757.2:p.(Arg972His)	NC_000008.10:g.41798484C>T	(Likely) benign	1 lab	8f2a8923b1
20:61471905 COL9A3 G>A	20	61471905	61471905	G	A	COL9A3	c.1876G>A	NM_001853.4	NP_001844.3:p.(Val626Met)	NC_000020.10:g.61471905G>A	(Likely) benign	1 lab	8f2aa4c2d6
17:3384920 ASPA C>T	17	3384920	3384920	C	T	ASPA	c.260C>T	NM_000049.4	NP_000040.1:p.(Pro87Leu)	NC_000017.10:g.3384920C>T	VUS	1 lab	8f2b439b4f
2:74314943 TET3 C>T	2	74314943	74314943	C	T	TET3	c.2680-14C>T	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74314943C>T	(Likely) benign	1 lab	8f2d09f7a4
11:3845144 PGAP2 C>T	11	3845144	3845144	C	T	PGAP2	c.380C>T	NM_014489.4	NP_055304.1:p.(Ala127Val)	NC_000011.9:g.3845144C>T	VUS	1 lab	8f2d0ac1ce
13:67802016 PCDH9 C>G	13	67802016	67802016	C	G	PCDH9	c.557G>C	NM_203487.3	NP_982354.1:p.(Ser186Thr)	NC_000013.10:g.67802016C>G	VUS	1 lab	8f2d1c641a
16:15826542 MYH11 G>A	16	15826542	15826542	G	A	MYH11	c.3530C>T	NM_002474.3	NP_002465.1:p.(Thr1177Met)	NC_000016.9:g.15826542G>A	VUS	1 lab	8f2d343aac
1:7700553 CAMTA1 G>C	1	7700553	7700553	G	C	CAMTA1	c.604G>C	NM_015215.4	NP_056030.1:p.(Asp202His)	NC_000001.10:g.7700553G>C	VUS	1 lab	8f2d9a3db6
2:176957792 HOXD13 GGCGGCGGCA>G	2	176957792	176957809	GGCGGCGGCA	G	HOXD13	c.183_191del	NM_000523.4	NP_000514.2:p.(Ala69_Ala71del)	NC_000002.11:g.176957801_176957809del	(Likely) benign	1 lab	8f2ee3ec49
X:140994634 MAGEC1 G>C	X	140994634	140994634	G	C	MAGEC1	c.1444G>C	NM_005462.5	NP_005453.2:p.(Val482Leu)	NC_000023.10:g.140994634G>C	VUS	1 lab	8f2efa3a6f
17:76425218 DNAH17 G>C	17	76425218	76425218	G	C	DNAH17	c.12389C>G	NM_173628.4	NP_775899.3:p.(Pro4130Arg)	NC_000017.10:g.76425218G>C	VUS	1 lab	8f2f6b6263
X:76937825 ATRX C>T	X	76937825	76937825	C	T	ATRX	c.2923G>A	NM_000489.6	NP_000480.3:p.(Asp975Asn)	NC_000023.10:g.76937825C>T	(Likely) benign	1 lab	8f320f5647
1:12921423 PRAMEF2 G>A	1	12921423	12921423	G	A	PRAMEF2	c.1214G>A	NM_023014.1	NP_075390.1:p.(Ser405Asn)	NC_000001.10:g.12921423G>A	(Likely) benign	1 lab	8f3533ac67
6:74189690 MTO1 C>T	6	74189690	74189690	C	T	MTO1	c.970C>T	NM_012123.4	NP_036255.2:p.(Arg324Cys)	NC_000006.11:g.74189690C>T	VUS	1 lab	8f35460219
11:118375813 KMT2A C>A	11	118375813	118375813	C	A	KMT2A	c.9206C>A	NM_001197104.2	NP_001184033.1:p.(Thr3069Asn)	NC_000011.9:g.118375813C>A	VUS	1 lab	8f35cb1c24
9:131388939 SPTAN1 C>A	9	131388939	131388939	C	A	SPTAN1	c.6549C>A	NM_001130438.3	NP_001123910.1:p.(Thr2183=)	NC_000009.11:g.131388939C>A	(Likely) benign	1 lab	25ab75f6fa
17:7751780 KDM6B T>C	17	7751780	7751780	T	C	KDM6B	c.2174T>C	NM_001348716.2	NP_001335645.1:p.(Leu725Pro)	NC_000017.10:g.7751780T>C	(Likely) benign	1 lab	8f38833ea4
2:71766326 DYSF C>A	2	71766326	71766326	C	A	DYSF	c.1533C>A	NM_001130987.2	NP_001124459.1:p.(Tyr511Ter)	NC_000002.11:g.71766326C>A	(Likely) pathogenic	1 lab	8f3905db23
6:24667079 TDP2 C>A	6	24667079	24667079	C	A	TDP2	c.12G>T	NM_016614.3	NP_057698.2:p.(Gly4=)	NC_000006.11:g.24667079C>A	VUS	1 lab	8f3921ff37
1:153652129 NPR1 C>T	1	153652129	153652129	C	T	NPR1	c.545C>T	NM_000906.4	NP_000897.3:p.(Ala182Val)	NC_000001.10:g.153652129C>T	(Likely) benign	1 lab	8f39ad28f1
5:14391006 TRIO A>T	5	14391006	14391006	A	T	TRIO	c.4129-4A>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14391006A>T	(Likely) benign	1 lab	8f3abc2253
2:97017681 NCAPH C>G	2	97017681	97017681	C	G	NCAPH	c.833C>G	NM_015341.5	NP_056156.2:p.(Ser278Cys)	NC_000002.11:g.97017681C>G	VUS	1 lab	8f3b038587
6:49427047 MMUT C>T	6	49427047	49427047	C	T	MMUT	c.133G>A	NM_000255.4	NP_000246.2:p.(Ala45Thr)	NC_000006.11:g.49427047C>T	VUS	1 lab	8f3c867740
9:131768026 NUP188 G>A	9	131768026	131768026	G	A	NUP188	c.4840G>A	NM_015354.3	NP_056169.1:p.(Val1614Met)	NC_000009.11:g.131768026G>A	VUS	1 lab	8f3faea100
1:39776666 MACF1 G>GC	1	39776666	39776667	G	GC	MACF1	c.3265dup	NM_001394062.1	NP_001380991.1:p.(Gln1089ProfsTer23)	NC_000001.10:g.39776667dup	VUS	1 lab	8f403f2e2c
16:89350863 ANKRD11 T>G	16	89350863	89350863	T	G	ANKRD11	c.2087A>C	NM_013275.6	NP_037407.4:p.(Lys696Thr)	NC_000016.9:g.89350863T>G	VUS	1 lab	8f41ef9d24
17:36104563 HNF1B C>T	17	36104563	36104563	C	T	HNF1B	c.313G>A	NM_000458.4	NP_000449.1:p.(Glu105Lys)	NC_000017.10:g.36104563C>T	VUS	1 lab	8f42e78f6a
12:133256645 POLE A>C	12	133256645	133256645	A	C	POLE	c.331-13T>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133256645A>C	VUS	1 lab	8fb7c9b6df
5:140188649 PCDHA1 T>G	5	140188649	140188649	T	G	PCDHA1	c.2394+20380T>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140188649T>G	(Likely) benign	1 lab	8f435cec72
X:76937987 ATRX C>A	X	76937987	76937987	C	A	ATRX	c.2761G>T	NM_000489.6	NP_000480.3:p.(Val921Phe)	NC_000023.10:g.76937987C>A	VUS	1 lab	8f440d6cf6
4:6303960 WFS1 T>C	4	6303960	6303960	T	C	WFS1	c.2438T>C	NM_006005.3	NP_005996.2:p.(Val813Ala)	NC_000004.11:g.6303960T>C	VUS	1 lab	8f446d56c5
20:31023450 ASXL1 G>A	20	31023450	31023450	G	A	ASXL1	c.2935G>A	NM_015338.6	NP_056153.2:p.(Asp979Asn)	NC_000020.10:g.31023450G>A	(Likely) benign	1 lab	8f44b1b1a8
11:66298485 BBS1 C>T	11	66298485	66298485	C	T	BBS1	c.1594C>T	NM_024649.5	NP_078925.3:p.(Arg532Trp)	NC_000011.9:g.66298485C>T	(Likely) benign	1 lab	8f4785d079
20:34776299 EPB41L1 G>A	20	34776299	34776299	G	A	EPB41L1	c.904G>A	NM_012156.2	NP_036288.2:p.(Val302Ile)	NC_000020.10:g.34776299G>A	VUS	1 lab	8f4804a516
7:151868354 KMT2C G>A	7	151868354	151868354	G	A	KMT2C	c.9448C>T	NM_170606.3	NP_733751.2:p.(Pro3150Ser)	NC_000007.13:g.151868354G>A	(Likely) benign	1 lab	8f4857373e
1:39765994 MACF1 C>T	1	39765994	39765994	C	T	MACF1	c.2594C>T	NM_001394062.1	NP_001380991.1:p.(Thr865Ile)	NC_000001.10:g.39765994C>T	(Likely) benign	1 lab	8f495bd5ae
13:25671451 PABPC3 A>G	13	25671451	25671451	A	G	PABPC3	c.1115A>G	NM_030979.3	NP_112241.2:p.(Glu372Gly)	NC_000013.10:g.25671451A>G	VUS	1 lab	8f49e9f9b5
1:231377150 GNPAT C>T	1	231377150	231377150	C	T	GNPAT	c.26C>T	NM_014236.4	NP_055051.1:p.(Ser9Phe)	NC_000001.10:g.231377150C>T	(Likely) benign	1 lab	8f4a2746d3
3:126208225 UROC1 A>G	3	126208225	126208225	A	G	UROC1	c.1609-7T>C	NM_144639.3	NP_653240.1:p.?	NC_000003.11:g.126208225A>G	(Likely) benign	1 lab	8f4ba9e6aa
12:121416727 HNF1A C>T	12	121416727	121416727	C	T	HNF1A	c.156C>T	NM_000545.8	NP_000536.6:p.(Gly52=)	NC_000012.11:g.121416727C>T	(Likely) benign	1 lab	8f4d362ca6
1:44467286 SLC6A9 T>G	1	44467286	44467286	T	G	SLC6A9	c.976A>C	NM_001024845.3	NP_001020016.1:p.(Ile326Leu)	NC_000001.10:g.44467286T>G	VUS	1 lab	8f4dac2d0d
X:132838274 GPC3 T>C	X	132838274	132838274	T	C	GPC3	c.1033-4218A>G	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132838274T>C	(Likely) benign	1 lab	8f4e1a41d2
7:100281705 GIGYF1 TGGCGGC>T	7	100281705	100281716	TGGCGGC	T	GIGYF1	c.1800_1805del	NM_001375765.1	NP_001362694.1:p.(Pro601_Pro602del)	NC_000007.13:g.100281711_100281716del	VUS	1 lab	25acdf42e2
16:8622117 TMEM114 CAGG>C	16	8622117	8622129	CAGG	C	TMEM114	c.-567_-565del	NM_001146336.2	NP_001139808.1:p.?	NC_000016.9:g.8622127_8622129del	VUS	1 lab	8f4f74c5db
3:4687330 ITPR1 A>T	3	4687330	4687330	A	T	ITPR1	c.773A>T	NM_001378452.1	NP_001365381.1:p.(Lys258Met)	NC_000003.11:g.4687330A>T	VUS	1 lab	8f4fb8baf6
X:7193989 STS C>T	X	7193989	7193989	C	T	STS	c.807-3C>T	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7193989C>T	(Likely) benign	1 lab	8f4fec25c9
17:78023995 CCDC40 G>GA	17	78023995	78023996	G	GA	CCDC40	c.1073dup	NM_017950.4	NP_060420.2:p.(Arg359AlafsTer35)	NC_000017.10:g.78023996dup	VUS	1 lab	8f511ab401
16:15826512 MYH11 G>A	16	15826512	15826512	G	A	MYH11	c.3560C>T	NM_002474.3	NP_002465.1:p.(Thr1187Met)	NC_000016.9:g.15826512G>A	VUS	1 lab	8f52721d16
2:72725667 EXOC6B G>A	2	72725667	72725667	G	A	EXOC6B	c.1253C>T	NM_015189.3	NP_056004.1:p.(Pro418Leu)	NC_000002.11:g.72725667G>A	VUS	1 lab	8f59d24e62
5:140181288 PCDHA1 C>CT	5	140181288	140181290	C	CT	PCDHA1	c.2394+13021dup	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140181290dup	VUS	1 lab	8f5b891fd0
4:96051153 BMPR1B C>G	4	96051153	96051153	C	G	BMPR1B	c.726C>G	NM_001203.3	NP_001194.1:p.(Phe242Leu)	NC_000004.11:g.96051153C>G	VUS	1 lab	8f5c02aa6e
15:89838293 FANCI A>C	15	89838293	89838293	A	C	FANCI	c.2604A>C	NM_001113378.2	NP_001106849.1:p.(Glu868Asp)	NC_000015.9:g.89838293A>C	(Likely) benign	1 lab	8f5c7e062c
Y:16952640 NLGN4Y C>A	Y	16952640	16952640	C	A	NLGN4Y	c.2009C>A	NM_001365588.1	NP_001352517.1:p.(Ser670Tyr)	NC_000024.9:g.16952640C>A	(Likely) benign	1 lab	8f5fbf50c9
20:62493029 ABHD16B A>G	20	62493029	62493029	A	G	ABHD16B	c.136A>G	NM_080622.4	NP_542189.1:p.(Ser46Gly)	NC_000020.10:g.62493029A>G	VUS	1 lab	8f6386636f
3:4735243 ITPR1 A>T	3	4735243	4735243	A	T	ITPR1	c.4099A>T	NM_001378452.1	NP_001365381.1:p.(Met1367Leu)	NC_000003.11:g.4735243A>T	VUS	1 lab	8f638e71dc
1:84650795 PRKACB T>G	1	84650795	84650795	T	G	PRKACB	c.490T>G	NM_182948.4	NP_891993.1:p.(Leu164Val)	NC_000001.10:g.84650795T>G	(Likely) benign	1 lab	8f6476f077
4:2831741 SH3BP2 GA>G	4	2831741	2831742	GA	G	SH3BP2	c.1109del	NM_001122681.2	NP_001116153.1:p.(Glu370GlyfsTer19)	NC_000004.11:g.2831742del	VUS	1 lab	8f6588144f
4:106190862 TET2 T>C	4	106190862	106190862	T	C	TET2	c.4140T>C	NM_001127208.3	NP_001120680.1:p.(His1380=)	NC_000004.11:g.106190862T>C	(Likely) benign	1 lab	8f65a88a7b
5:133541635 PPP2CA A>G	5	133541635	133541635	A	G	PPP2CA	c.290T>C	NM_002715.4	NP_002706.1:p.(Val97Ala)	NC_000005.9:g.133541635A>G	VUS	1 lab	8f66b395d8
4:1377592 UVSSA G>A	4	1377592	1377592	G	A	UVSSA	c.1900G>A	NM_020894.4	NP_065945.2:p.(Ala634Thr)	NC_000004.11:g.1377592G>A	VUS	1 lab	8f66fdbc69
14:75052794 LTBP2 C>T	14	75052794	75052794	C	T	LTBP2	c.593G>A	NM_000428.3	NP_000419.1:p.(Arg198Gln)	NC_000014.8:g.75052794C>T	VUS	1 lab	8f688891ad
10:50684308 ERCC6 A>C	10	50684308	50684308	A	C	ERCC6	c.2335T>G	NM_000124.4	NP_000115.1:p.(Phe779Val)	NC_000010.10:g.50684308A>C	VUS	1 lab	8f68adfd46
1:32154091 COL16A1 C>G	1	32154091	32154091	C	G	COL16A1	c.1780G>C	NM_001856.4	NP_001847.3:p.(Val594Leu)	NC_000001.10:g.32154091C>G	(Likely) benign	1 lab	8f68b916fb
2:152484079 NEB A>T	2	152484079	152484079	A	T	NEB	c.10101T>A	NM_001164508.2	NP_001157980.2:p.(Asn3367Lys)	NC_000002.11:g.152484079A>T	VUS	1 lab	8f68ca1cf4
X:148571971 IDS G>A	X	148571971	148571971	G	A	IDS	c.880C>T	NM_000202.8	NP_000193.1:p.(Arg294Trp)	NC_000023.10:g.148571971G>A	VUS	1 lab	8f69372c74
5:122515955 PRDM6 C>T	5	122515955	122515955	C	T	PRDM6	c.1611C>T	NM_001136239.4	NP_001129711.1:p.(Ala537=)	NC_000005.9:g.122515955C>T	(Likely) benign	1 lab	8f69ee6589
19:13007748 GCDH G>A	19	13007748	13007748	G	A	GCDH	c.877G>A	NM_000159.4	NP_000150.1:p.(Ala293Thr)	NC_000019.9:g.13007748G>A	(Likely) pathogenic	1 lab	8f6ab8a277
10:102258928 SEC31B AG>A	10	102258928	102258930	AG	A	SEC31B	c.1572del	NM_015490.4	NP_056305.1:p.(Phe525SerfsTer28)	NC_000010.10:g.102258930del	VUS	1 lab	8f6b0875b5
22:20780356 SCARF2 G>A	22	20780356	20780356	G	A	SCARF2	c.1907C>T	NM_182895.5	NP_878315.2:p.(Ala636Val)	NC_000022.10:g.20780356G>A	VUS	1 lab	8f6bb9334f
3:30691893 TGFBR2 C>T	3	30691893	30691893	C	T	TGFBR2	c.395C>T	NM_003242.6	NP_003233.4:p.(Thr132Ile)	NC_000003.11:g.30691893C>T	VUS	1 lab	8f6bf1242f
Y:15467833 UTY C>A	Y	15467833	15467833	C	A	UTY	c.1635G>T	NM_001258249.2	NP_001245178.1:p.(Gln545His)	NC_000024.9:g.15467833C>A	VUS	1 lab	8f6c946ce3
1:235866173 LYST G>C	1	235866173	235866173	G	C	LYST	c.10248C>G	NM_000081.4	NP_000072.2:p.(His3416Gln)	NC_000001.10:g.235866173G>C	(Likely) benign	1 lab	8f6d191db6
X:153297785 MECP2 G>A	X	153297785	153297785	G	A	MECP2	c.286C>T	NM_001110792.2	NP_001104262.1:p.(Arg96Trp)	NC_000023.10:g.153297785G>A	VUS	1 lab	8f6dc1cbc6
3:169835268 PHC3 A>G	3	169835268	169835268	A	G	PHC3	c.1943-4T>C	NM_024947.4	NP_079223.3:p.?	NC_000003.11:g.169835268A>G	(Likely) benign	1 lab	8f6e3e7e66
1:151378059 POGZ C>T	1	151378059	151378059	C	T	POGZ	c.3452G>A	NM_015100.4	NP_055915.2:p.(Gly1151Asp)	NC_000001.10:g.151378059C>T	(Likely) benign	1 lab	8f6e6c568c
4:5687210 EVC2 C>T	4	5687210	5687210	C	T	EVC2	c.707-4G>A	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5687210C>T	(Likely) benign	1 lab	8f6eb1ee87
15:89401333 ACAN GGC>G	15	89401333	89401335	GGC	G	ACAN	c.5518_5519del	NM_001369268.1	NP_001356197.1:p.(Ala1840ProfsTer5)	NC_000015.9:g.89401334_89401335del	(Likely) pathogenic	1 lab	8f6fb93c13
1:152284562 FLG C>G	1	152284562	152284562	C	G	FLG	c.2800G>C	NM_002016.2	NP_002007.1:p.(Glu934Gln)	NC_000001.10:g.152284562C>G	VUS	1 lab	8f6fbf0b05
7:73471726 ELN G>A	7	73471726	73471726	G	A	ELN	c.1358-244G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471726G>A	(Likely) benign	1 lab	8f70ac100c
19:54651928 CNOT3 C>T	19	54651928	54651928	C	T	CNOT3	c.940C>T	NM_014516.4	NP_055331.1:p.(Pro314Ser)	NC_000019.9:g.54651928C>T	(Likely) benign	1 lab	8f712d4803
12:21958070 ABCC9 C>T	12	21958070	21958070	C	T	ABCC9	c.4512+862G>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21958070C>T	(Likely) benign	1 lab	8f7358555e
X:54360230 WNK3 AG>A	X	54360230	54360237	AG	A	WNK3	c.-119-6del	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54360237del	(Likely) benign	1 lab	8f74d9dd07
9:140611263 EHMT1 A>T	9	140611263	140611263	A	T	EHMT1	c.271A>T	NM_024757.5	NP_079033.4:p.(Ile91Leu)	NC_000009.11:g.140611263A>T	(Likely) benign	1 lab	8f74de1b8f
11:2906116 CDKN1C G>C	11	2906116	2906116	G	C	CDKN1C	c.571C>G	NM_001122630.2	NP_001116102.1:p.(Pro191Ala)	NC_000011.9:g.2906116G>C	(Likely) benign	1 lab	8f758f7005
21:44483200 CBS G>A	21	44483200	44483200	G	A	CBS	c.829-12C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44483200G>A	(Likely) benign	1 lab	8f76d20eff
15:90189264 KIF7 G>A	15	90189264	90189264	G	A	KIF7	c.1789-7C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90189264G>A	(Likely) benign	1 lab	8f7758d629
19:3982268 EEF2 A>G	19	3982268	3982268	A	G	EEF2	c.767T>C	NM_001961.4	NP_001952.1:p.(Met256Thr)	NC_000019.9:g.3982268A>G	VUS	1 lab	8f7764ebd9
X:3238069 MXRA5 G>A	X	3238069	3238069	G	A	MXRA5	c.5657C>T	NM_015419.4	NP_056234.2:p.(Thr1886Ile)	NC_000023.10:g.3238069G>A	VUS	1 lab	8f77664356
9:21974637 CDKN2A G>A	9	21974637	21974637	G	A	CDKN2A	c.150+40C>T	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21974637G>A	(Likely) benign	1 lab	8f77ee3939
12:32945671 PKP2 A>G	12	32945671	32945671	A	G	PKP2	c.2490-6T>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32945671A>G	(Likely) benign	1 lab	25b91efe49
11:1463721 BRSK2 C>A	11	1463721	1463721	C	A	BRSK2	c.415C>A	NM_001256627.2	NP_001243556.1:p.(His139Asn)	NC_000011.9:g.1463721C>A	(Likely) pathogenic	1 lab	8f78d545cc
14:103410626 CDC42BPB T>C	14	103410626	103410626	T	C	CDC42BPB	c.4010A>G	NM_006035.4	NP_006026.3:p.(Lys1337Arg)	NC_000014.8:g.103410626T>C	(Likely) benign	1 lab	8f79ef1288
12:102174406 GNPTAB C>T	12	102174406	102174406	C	T	GNPTAB	c.572-7G>A	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102174406C>T	(Likely) benign	1 lab	8f7b817990
7:156802526 MNX1 A>AGCC	7	156802526	156802543	A	AGCC	MNX1	c.516_518dup	NM_005515.4	NP_005506.3:p.(Ala174dup)	NC_000007.13:g.156802541_156802543dup	VUS	1 lab	8f7bbe69eb
15:99500440 IGF1R G>A	15	99500440	99500440	G	A	IGF1R	c.3873G>A	NM_000875.5	NP_000866.1:p.(Glu1291=)	NC_000015.9:g.99500440G>A	(Likely) benign	1 lab	8f7df762e9
10:104263949 SUFU G>C	10	104263949	104263949	G	C	SUFU	c.40G>C	NM_016169.4	NP_057253.2:p.(Ala14Pro)	NC_000010.10:g.104263949G>C	(Likely) benign	1 lab	8f7e8f6da6
2:113330818 POLR1B T>C	2	113330818	113330818	T	C	POLR1B	c.2272-321T>C	NM_019014.6	NP_061887.2:p.?	NC_000002.11:g.113330818T>C	(Likely) benign	1 lab	8f819caf07
15:59175983 SLTM G>C	15	59175983	59175983	G	C	SLTM	c.2838C>G	NM_024755.4	NP_079031.2:p.(His946Gln)	NC_000015.9:g.59175983G>C	VUS	1 lab	8f83585056
9:94488887 ROR2 C>T	9	94488887	94488887	C	T	ROR2	c.1322G>A	NM_004560.4	NP_004551.2:p.(Arg441Gln)	NC_000009.11:g.94488887C>T	VUS	1 lab	8f858e59be
2:152698506 CACNB4 T>G	2	152698506	152698506	T	G	CACNB4	c.1213A>C	NM_000726.5	NP_000717.2:p.(Thr405Pro)	NC_000002.11:g.152698506T>G	(Likely) benign	1 lab	8f86114488
9:139247608 GPSM1 G>C	9	139247608	139247608	G	C	GPSM1	c.1456-2534G>C	NM_001145638.3	NP_001139110.2:p.?	NC_000009.11:g.139247608G>C	(Likely) benign	1 lab	8f87200944
6:163991734 QKI G>A	6	163991734	163991734	G	A	QKI	c.1018G>A	NM_006775.3	NP_006766.1:p.(Gly340Ser)	NC_000006.11:g.163991734G>A	VUS	1 lab	8f879cdc8b
18:2960748 LPIN2 T>G	18	2960748	2960748	T	G	LPIN2	c.91A>C	NM_001375808.2	NP_001362737.1:p.(Ile31Leu)	NC_000018.9:g.2960748T>G	VUS	1 lab	8f880551ab
5:13864592 DNAH5 C>G	5	13864592	13864592	C	G	DNAH5	c.4510G>C	NM_001369.3	NP_001360.1:p.(Gly1504Arg)	NC_000005.9:g.13864592C>G	VUS	1 lab	8f88077338
18:56205373 ALPK2 T>TG	18	56205373	56205377	T	TG	ALPK2	c.2045dup	NM_052947.4	NP_443179.3:p.(Phe683IlefsTer38)	NC_000018.9:g.56205377dup	VUS	1 lab	8f88195b12
3:48612130 COL7A1 G>A	3	48612130	48612130	G	A	COL7A1	c.6373C>T	NM_000094.4	NP_000085.1:p.(Gln2125Ter)	NC_000003.11:g.48612130G>A	(Likely) pathogenic	1 lab	8f88ee9ed0
19:10662797 ATG4D G>C	19	10662797	10662797	G	C	ATG4D	c.1122G>C	NM_032885.6	NP_116274.3:p.(Glu374Asp)	NC_000019.9:g.10662797G>C	(Likely) benign	1 lab	8f8929431c
8:67342092 RRS1 G>C	8	67342092	67342092	G	C	RRS1	c.726G>C	NM_015169.4	NP_055984.1:p.(Glu242Asp)	NC_000008.10:g.67342092G>C	VUS	1 lab	8f8a14eb72
1:229568091 ACTA1 TC>T	1	229568091	229568093	TC	T	ACTA1	c.541del	NM_001100.4	NP_001091.1:p.(Asp181ThrfsTer11)	NC_000001.10:g.229568093del	(Likely) pathogenic	1 lab	8f8a93f74c
5:93732149 KIAA0825 A>G	5	93732149	93732149	A	G	KIAA0825	c.2953T>C	NM_001145678.3	NP_001139150.1:p.(Cys985Arg)	NC_000005.9:g.93732149A>G	VUS	1 lab	8f8de7417d
X:148631034 HSFX3 G>A	X	148631034	148631034	G	A	HSFX3	c.364C>T	NM_001323079.3	NP_001310008.1:p.(Arg122Trp)	NC_000023.10:g.148631034G>A	(Likely) benign	1 lab	8f8f572d0a
2:215848575 ABCA12 C>T	2	215848575	215848575	C	T	ABCA12	c.4178G>A	NM_173076.3	NP_775099.2:p.(Gly1393Glu)	NC_000002.11:g.215848575C>T	(Likely) pathogenic	1 lab	8f924eedd1
2:27800163 SPATA31H1 C>T	2	27800163	27800163	C	T	SPATA31H1	c.10936C>T	NM_032266.5	NP_115642.4:p.(Arg3646Trp)	NC_000002.11:g.27800163C>T	VUS	1 lab	8f9342697f
15:89382103 ACAN G>A	15	89382103	89382103	G	A	ACAN	c.280G>A	NM_001369268.1	NP_001356197.1:p.(Val94Met)	NC_000015.9:g.89382103G>A	VUS	1 lab	8f945df790
15:48777571 FBN1 C>T	15	48777571	48777571	C	T	FBN1	c.3712G>A	NM_000138.5	NP_000129.3:p.(Asp1238Asn)	NC_000015.9:g.48777571C>T	(Likely) pathogenic	1 lab	8f9500f29d
1:202715265 KDM5B C>G	1	202715265	202715265	C	G	KDM5B	c.2198+5G>C	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202715265C>G	VUS	1 lab	8f95aa6da8
9:35800143 NPR2 G>A	9	35800143	35800143	G	A	NPR2	c.1112G>A	NM_003995.4	NP_003986.2:p.(Arg371Gln)	NC_000009.11:g.35800143G>A	VUS	1 lab	8f96f9a461
19:38993538 RYR1 G>A	19	38993538	38993538	G	A	RYR1	c.7854G>A	NM_000540.3	NP_000531.2:p.(Met2618Ile)	NC_000019.9:g.38993538G>A	VUS	1 lab	8f98a6c522
15:89386648 ACAN C>T	15	89386648	89386648	C	T	ACAN	c.820C>T	NM_001369268.1	NP_001356197.1:p.(Arg274Trp)	NC_000015.9:g.89386648C>T	(Likely) benign	1 lab	8f9971cc6a
6:33132660 COL11A2 G>T	6	33132660	33132660	G	T	COL11A2	c.4832C>A	NM_080680.3	NP_542411.2:p.(Thr1611Asn)	NC_000006.11:g.33132660G>T	VUS	1 lab	8f9b1fc4a4
1:154842304 KCNN3 G>C	1	154842304	154842304	G	C	KCNN3	c.137C>G	NM_002249.6	NP_002240.3:p.(Ala46Gly)	NC_000001.10:g.154842304G>C	(Likely) benign	1 lab	8f9c1972f1
X:153670125 GDI1 G>C	X	153670125	153670125	G	C	GDI1	c.975G>C	NM_001493.3	NP_001484.1:p.(Gln325His)	NC_000023.10:g.153670125G>C	(Likely) pathogenic	1 lab	8f9c4c7b43
12:46244928 ARID2 T>C	12	46244928	46244928	T	C	ARID2	c.3022T>C	NM_152641.4	NP_689854.2:p.(Ser1008Pro)	NC_000012.11:g.46244928T>C	(Likely) benign	1 lab	8f9cb712a3
8:61764578 CHD7 G>A	8	61764578	61764578	G	A	CHD7	c.5666G>A	NM_017780.4	NP_060250.2:p.(Gly1889Asp)	NC_000008.10:g.61764578G>A	(Likely) benign	1 lab	8f9cdfafd3
17:16855837 TNFRSF13B T>C	17	16855837	16855837	T	C	TNFRSF13B	c.122A>G	NM_012452.3	NP_036584.1:p.(Asp41Gly)	NC_000017.10:g.16855837T>C	VUS	1 lab	8f9d9806d8
1:181701702 CACNA1E A>G	1	181701702	181701702	A	G	CACNA1E	c.2480A>G	NM_001205293.3	NP_001192222.1:p.(Tyr827Cys)	NC_000001.10:g.181701702A>G	VUS	1 lab	8fa0daec5b
13:46161211 ERICH6B G>A	13	46161211	46161211	G	A	ERICH6B	c.843C>T	NM_182542.3	NP_872348.2:p.(Tyr281=)	NC_000013.10:g.46161211G>A	VUS	1 lab	8fa118cd7a
6:157336653 ARID1B G>GT	6	157336653	157336654	G	GT	ARID1B	c.2248-69142dup	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157336654dup	(Likely) benign	1 lab	8fb2241ea8
6:35199528 SCUBE3 G>A	6	35199528	35199528	G	A	SCUBE3	c.361G>A	NM_152753.4	NP_689966.2:p.(Gly121Ser)	NC_000006.11:g.35199528G>A	VUS	1 lab	8fa42db0e4
14:74967607 LTBP2 G>T	14	74967607	74967607	G	T	LTBP2	c.5446C>A	NM_000428.3	NP_000419.1:p.(His1816Asn)	NC_000014.8:g.74967607G>T	VUS	1 lab	8fa42faa16
X:108906629 ACSL4 C>T	X	108906629	108906629	C	T	ACSL4	c.1393G>A	NM_001318510.2	NP_001305439.1:p.(Gly465Ser)	NC_000023.10:g.108906629C>T	(Likely) benign	1 lab	8fa4e2c80e
1:45809322 TOE1 G>A	1	45809322	45809322	G	A	TOE1	c.1481G>A	NM_025077.4	NP_079353.3:p.(Arg494His)	NC_000001.10:g.45809322G>A	(Likely) benign	1 lab	8fa6e060e9
1:27877549 AHDC1 CCAGTGGG>C	1	27877549	27877561	CCAGTGGG	C	AHDC1	c.1071_1077del	NM_001371928.1	NP_001358857.1:p.(Cys357TrpfsTer93)	NC_000001.10:g.27877555_27877561del	VUS	1 lab	8fa78276bd
6:32797866 TAP2 C>T	6	32797866	32797866	C	T	TAP2	c.1636G>A	NM_001290043.2	NP_001276972.1:p.(Val546Met)	NC_000006.11:g.32797866C>T	VUS	1 lab	8fa972aa6e
12:49420477 KMT2D T>C	12	49420477	49420477	T	C	KMT2D	c.15272A>G	NM_003482.4	NP_003473.3:p.(Lys5091Arg)	NC_000012.11:g.49420477T>C	(Likely) benign	1 lab	8fa9f2e887
22:38370185 SOX10 T>G	22	38370185	38370185	T	G	SOX10	c.718A>C	NM_006941.4	NP_008872.1:p.(Thr240Pro)	NC_000022.10:g.38370185T>G	VUS	1 lab	8fac7f71ac
11:71209551 NADSYN1 C>T	11	71209551	71209551	C	T	NADSYN1	c.2047C>T	NM_018161.5	NP_060631.2:p.(Gln683Ter)	NC_000011.9:g.71209551C>T	VUS	1 lab	8fad1b2e62
20:43251240 ADA A>G	20	43251240	43251240	A	G	ADA	c.834T>C	NM_000022.2	NP_000013.2:p.(His278=)	NC_000020.10:g.43251240A>G	(Likely) benign	1 lab	2727762a7f
11:1268714 MUC5B G>C	11	1268714	1268714	G	C	MUC5B	c.10604G>C	NM_002458.3	NP_002449.2:p.(Gly3535Ala)	NC_000011.9:g.1268714G>C	(Likely) benign	1 lab	2727d41920
2:18112763 KCNS3 G>A	2	18112763	18112763	G	A	KCNS3	c.488G>A	NM_002252.5	NP_002243.3:p.(Arg163Gln)	NC_000002.11:g.18112763G>A	VUS	1 lab	8fae95cbe9
4:1807488 FGFR3 G>C	4	1807488	1807488	G	C	FGFR3	c.1657G>C	NM_000142.5	NP_000133.1:p.(Val553Leu)	NC_000004.11:g.1807488G>C	VUS	1 lab	8faee4ddc6
8:145730018 GPT G>A	8	145730018	145730018	G	A	GPT	c.194G>A	NM_005309.3	NP_005300.1:p.(Arg65His)	NC_000008.10:g.145730018G>A	(Likely) benign	1 lab	8fb12ea8f7
12:12871036 CDKN1B A>T	12	12871036	12871036	A	T	CDKN1B	c.263A>T	NM_004064.5	NP_004055.1:p.(Tyr88Phe)	NC_000012.11:g.12871036A>T	VUS	1 lab	8fb53ad502
3:47451657 PTPN23 C>T	3	47451657	47451657	C	T	PTPN23	c.2369C>T	NM_015466.4	NP_056281.1:p.(Pro790Leu)	NC_000003.11:g.47451657C>T	(Likely) benign	1 lab	8fb589fb36
2:233388540 PRSS56 G>T	2	233388540	233388540	G	T	PRSS56	c.1071G>T	NM_001195129.2	NP_001182058.1:p.(Glu357Asp)	NC_000002.11:g.233388540G>T	(Likely) benign	1 lab	8fb74923a0
19:33390782 CEP89 C>T	19	33390782	33390782	C	T	CEP89	c.1856G>A	NM_032816.5	NP_116205.3:p.(Arg619His)	NC_000019.9:g.33390782C>T	VUS	1 lab	8fb78d2ff3
2:121746848 GLI2 T>C	2	121746848	121746848	T	C	GLI2	c.3307T>C	NM_001374353.1	NP_001361282.1:p.(Ser1103Pro)	NC_000002.11:g.121746848T>C	(Likely) benign	1 lab	8fb9757594
2:120677793 PTPN4 C>T	2	120677793	120677793	C	T	PTPN4	c.977C>T	NM_002830.4	NP_002821.1:p.(Thr326Ile)	NC_000002.11:g.120677793C>T	VUS	1 lab	8fba20eaeb
5:7896968 MTRR TCCAC>T	5	7896968	7896972	TCCAC	T	MTRR	c.1677-8_1677-5del	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7896969_7896972del	(Likely) benign	1 lab	8fba657a14
4:186064544 SLC25A4 G>T	4	186064544	186064544	G	T	SLC25A4	c.18G>T	NM_001151.4	NP_001142.2:p.(Trp6Cys)	NC_000004.11:g.186064544G>T	VUS	1 lab	8fbb691be6
X:32490320 DMD G>A	X	32490320	32490320	G	A	DMD	c.2910C>T	NM_004006.3	NP_003997.2:p.(Thr970=)	NC_000023.10:g.32490320G>A	(Likely) benign	1 lab	8fbbb99723
16:74452114 CLEC18B A>G	16	74452114	74452114	A	G	CLEC18B	c.299T>C	NM_001385193.1	NP_001372122.1:p.(Leu100Pro)	NC_000016.9:g.74452114A>G	(Likely) benign	1 lab	8fbc497075
18:72997831 TSHZ1 A>C	18	72997831	72997831	A	C	TSHZ1	c.469A>C	NM_001308210.2	NP_001295139.1:p.(Thr157Pro)	NC_000018.9:g.72997831A>C	(Likely) benign	1 lab	8fbd86574b
6:43011210 CUL7 G>A	6	43011210	43011210	G	A	CUL7	c.3331C>T	NM_014780.5	NP_055595.2:p.(Pro1111Ser)	NC_000006.11:g.43011210G>A	VUS	1 lab	8fbeca7088
6:51893148 PKHD1 G>A	6	51893148	51893148	G	A	PKHD1	c.3366C>T	NM_138694.4	NP_619639.3:p.(Gly1122=)	NC_000006.11:g.51893148G>A	(Likely) benign	1 lab	8fbeffcf96
14:102457598 DYNC1H1 G>A	14	102457598	102457598	G	A	DYNC1H1	c.2869-266G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102457598G>A	(Likely) benign	1 lab	8fbf7b5c94
1:234744942 IRF2BP2 C>T	1	234744942	234744942	C	T	IRF2BP2	c.299G>A	NM_182972.3	NP_892017.2:p.(Gly100Asp)	NC_000001.10:g.234744942C>T	(Likely) benign	1 lab	8fbfe94f76
22:31013399 TCN2 G>A	22	31013399	31013399	G	A	TCN2	c.1023G>A	NM_000355.4	NP_000346.2:p.(Pro341=)	NC_000022.10:g.31013399G>A	(Likely) benign	1 lab	8fc0e1711a
17:4726097 PLD2 G>A	17	4726097	4726097	G	A	PLD2	c.2740G>A	NM_002663.5	NP_002654.3:p.(Glu914Lys)	NC_000017.10:g.4726097G>A	VUS	1 lab	8fc1cc435a
15:90210984 PLIN1 G>A	15	90210984	90210984	G	A	PLIN1	c.812C>T	NM_002666.5	NP_002657.3:p.(Ala271Val)	NC_000015.9:g.90210984G>A	(Likely) benign	1 lab	8fc1f871ff
1:12012748 PLOD1 G>T	1	12012748	12012748	G	T	PLOD1	c.535G>T	NM_000302.4	NP_000293.2:p.(Asp179Tyr)	NC_000001.10:g.12012748G>T	(Likely) benign	1 lab	8fc2067dbe
2:179574403 TTN G>A	2	179574403	179574403	G	A	TTN	c.28643C>T	NM_001267550.2	NP_001254479.2:p.(Thr9548Met)	NC_000002.11:g.179574403G>A	VUS	1 lab	8fc21cd12e
19:56369507 NLRP4 G>A	19	56369507	56369507	G	A	NLRP4	c.748G>A	NM_134444.5	NP_604393.2:p.(Asp250Asn)	NC_000019.9:g.56369507G>A	(Likely) benign	1 lab	8fc2fd4670
17:7750532 KDM6B G>C	17	7750532	7750532	G	C	KDM6B	c.1019G>C	NM_001348716.2	NP_001335645.1:p.(Arg340Pro)	NC_000017.10:g.7750532G>C	(Likely) benign	1 lab	8fc30b3a6d
12:94806181 CEP83 G>A	12	94806181	94806181	G	A	CEP83	c.86C>T	NM_016122.3	NP_057206.2:p.(Ser29Leu)	NC_000012.11:g.94806181G>A	VUS	1 lab	8fc51bcc62
7:33217089 BBS9 G>T	7	33217089	33217089	G	T	BBS9	c.329-1G>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217089G>T	(Likely) benign	1 lab	8fc54da35d
17:7753274 KDM6B G>T	17	7753274	7753274	G	T	KDM6B	c.3567+9G>T	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7753274G>T	(Likely) benign	1 lab	8fc6596897
3:12421360 PPARG C>T	3	12421360	12421360	C	T	PPARG	c.150C>T	NM_138711.6	NP_619725.3:p.(Asp50=)	NC_000003.11:g.12421360C>T	(Likely) benign	1 lab	8fc80d3b04
19:54486013 CACNG8 C>CGCGCCCTCT	19	54486013	54486028	C	CGCGCCCTCT	CACNG8	c.1195_1203dup	NM_031895.6	NP_114101.4:p.(Ser399_Pro401dup)	NC_000019.9:g.54486020_54486028dup	VUS	1 lab	8fc8905729
2:108999968 SULT1C4 T>C	2	108999968	108999968	T	C	SULT1C4	c.615+2T>C	NM_006588.4	NP_006579.2:p.?	NC_000002.11:g.108999968T>C	VUS	1 lab	8fcac1c15b
2:219305463 VIL1 G>C	2	219305463	219305463	G	C	VIL1	c.2248G>C	NM_007127.3	NP_009058.2:p.(Val750Leu)	NC_000002.11:g.219305463G>C	(Likely) benign	1 lab	8fcbd1c80c
2:238280854 COL6A3 G>A	2	238280854	238280854	G	A	COL6A3	c.3806C>T	NM_004369.4	NP_004360.2:p.(Thr1269Ile)	NC_000002.11:g.238280854G>A	VUS	1 lab	8fcd3fb06b
X:24229438 ZFX C>G	X	24229438	24229438	C	G	ZFX	c.2363C>G	NM_003410.4	NP_003401.2:p.(Pro788Arg)	NC_000023.10:g.24229438C>G	VUS	1 lab	8fcee83f09
19:38985205 RYR1 G>C	19	38985205	38985205	G	C	RYR1	c.6488G>C	NM_000540.3	NP_000531.2:p.(Arg2163Pro)	NC_000019.9:g.38985205G>C	(Likely) pathogenic	1 lab	8fcf02907d
7:124537283 POT1 A>G	7	124537283	124537283	A	G	POT1	c.-39-17T>C	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124537283A>G	(Likely) benign	1 lab	8fd2ca3397
2:48032174 MSH6 T>G	2	48032174	48032174	T	G	MSH6	c.3556+8T>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032174T>G	VUS	1 lab	8fd37c541d
15:93543742 CHD2 G>A	15	93543742	93543742	G	A	CHD2	c.4009G>A	NM_001271.4	NP_001262.3:p.(Ala1337Thr)	NC_000015.9:g.93543742G>A	(Likely) benign	1 lab	8fd44ef9b5
16:16232271 ABCC1 C>T	16	16232271	16232271	C	T	ABCC1	c.4343C>T	NM_004996.4	NP_004987.2:p.(Thr1448Met)	NC_000016.9:g.16232271C>T	VUS	1 lab	8fd45c0810
3:44692628 ZNF35 G>GGAA	3	44692628	44692640	G	GGAA	ZNF35	c.79_81dup	NM_003420.4	NP_003411.3:p.(Glu27dup)	NC_000003.11:g.44692638_44692640dup	VUS	1 lab	8fd474940c
5:140236414 PCDHA1 A>G	5	140236414	140236414	A	G	PCDHA1	c.2394+68145A>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140236414A>G	VUS	1 lab	8fd4c97e39
2:238277613 COL6A3 G>A	2	238277613	238277613	G	A	COL6A3	c.4493C>T	NM_004369.4	NP_004360.2:p.(Pro1498Leu)	NC_000002.11:g.238277613G>A	(Likely) benign	1 lab	8fd539416b
1:229568296 ACTA1 C>A	1	229568296	229568296	C	A	ACTA1	c.454+7G>T	NM_001100.4	NP_001091.1:p.?	NC_000001.10:g.229568296C>A	VUS	1 lab	8fd6a30eef
10:27306508 ANKRD26 G>A	10	27306508	27306508	G	A	ANKRD26	c.4429C>T	NM_014915.3	NP_055730.2:p.(Gln1477Ter)	NC_000010.10:g.27306508G>A	VUS	1 lab	8fd6bc198d
17:49238627 NME1 T>C	17	49238627	49238627	T	C	NME1	c.335T>C	NM_000269.3	NP_000260.1:p.(Val112Ala)	NC_000017.10:g.49238627T>C	(Likely) benign	1 lab	8fd7d28331
11:64026408 PLCB3 C>T	11	64026408	64026408	C	T	PLCB3	c.1305C>T	NM_000932.3	NP_000923.1:p.(Asp435=)	NC_000011.9:g.64026408C>T	(Likely) benign	1 lab	27282cfb2a
17:48701717 CACNA1G A>C	17	48701717	48701717	A	C	CACNA1G	c.6230-4A>C	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48701717A>C	(Likely) benign	1 lab	8fd88435f9
2:152534230 NEB A>G	2	152534230	152534230	A	G	NEB	c.3623T>C	NM_001271208.1	NP_001258137.1:p.(Ile1208Thr)	NC_000002.11:g.152534230A>G	(Likely) benign	1 lab	272861c3cb
19:38933066 RYR1 G>A	19	38933066	38933066	G	A	RYR1	c.243G>A	NM_000540.3	NP_000531.2:p.(Leu81=)	NC_000019.9:g.38933066G>A	(Likely) benign	1 lab	8fd97d9c20
22:42608161 TCF20 G>A	22	42608161	42608161	G	A	TCF20	c.3151C>T	NM_001378418.1	NP_001365347.1:p.(Pro1051Ser)	NC_000022.10:g.42608161G>A	(Likely) benign	1 lab	8fd9c6cff2
3:48900069 SLC25A20 G>A	3	48900069	48900069	G	A	SLC25A20	c.441C>T	NM_000387.6	NP_000378.1:p.(Ser147=)	NC_000003.11:g.48900069G>A	VUS	1 lab	8fdbd9ae2d
2:233199380 DIS3L2 A>G	2	233199380	233199380	A	G	DIS3L2	c.2329A>G	NM_152383.5	NP_689596.4:p.(Ile777Val)	NC_000002.11:g.233199380A>G	VUS	1 lab	8fdf452a9d
X:17750304 NHS G>C	X	17750304	17750304	G	C	NHS	c.4676G>C	NM_001291867.2	NP_001278796.1:p.(Ser1559Thr)	NC_000023.10:g.17750304G>C	(Likely) benign	1 lab	8fe1b15297
22:25603149 CRYBB3 G>A	22	25603149	25603149	G	A	CRYBB3	c.606G>A	NM_004076.5	NP_004067.1:p.(Trp202Ter)	NC_000022.10:g.25603149G>A	VUS	1 lab	8fe308d458
15:100673436 ADAMTS17 C>T	15	100673436	100673436	C	T	ADAMTS17	c.1558G>A	NM_139057.4	NP_620688.2:p.(Glu520Lys)	NC_000015.9:g.100673436C>T	(Likely) benign	1 lab	8fe4f64133
14:36158165 RALGAPA1 T>G	14	36158165	36158165	T	G	RALGAPA1	c.3452A>C	NM_001346249.2	NP_001333178.1:p.(His1151Pro)	NC_000014.8:g.36158165T>G	VUS	1 lab	8fe6560e43
10:101295274 NKX2-3 G>GGGC	10	101295274	101295297	G	GGGC	NKX2-3	c.912_914dup	NM_145285.3	NP_660328.2:p.(Gly305dup)	NC_000010.10:g.101295295_101295297dup	VUS	1 lab	8fe730d965
17:56357750 MPO C>T	17	56357750	56357750	C	T	MPO	c.225G>A	NM_000250.1	NP_000241.1:p.(Lys75=)	NC_000017.10:g.56357750C>T	(Likely) benign	1 lab	272bff04d7
7:45125468 NACAD G>A	7	45125468	45125468	G	A	NACAD	c.311C>T	NM_001146334.2	NP_001139806.1:p.(Ala104Val)	NC_000007.13:g.45125468G>A	(Likely) benign	1 lab	8fe93990dd
17:61499087 TANC2 T>C	17	61499087	61499087	T	C	TANC2	c.5996T>C	NM_001394998.1	NP_001381927.1:p.(Leu1999Pro)	NC_000017.10:g.61499087T>C	VUS	1 lab	8fea3a37ae
4:94411781 GRID2 T>C	4	94411781	94411781	T	C	GRID2	c.1859-9T>C	NM_001510.4	NP_001501.2:p.?	NC_000004.11:g.94411781T>C	(Likely) benign	1 lab	8fea838815
1:156096518 LMNA T>G	1	156096518	156096518	T	G	LMNA	c.357-3890T>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096518T>G	(Likely) benign	1 lab	8fed469ece
9:139286965 SNAPC4 C>T	9	139286965	139286965	C	T	SNAPC4	c.810+9G>A	NM_003086.4	NP_003077.2:p.?	NC_000009.11:g.139286965C>T	(Likely) benign	1 lab	8fed4e06d0
2:179407783 TTN A>T	2	179407783	179407783	A	T	TTN	c.96904+13T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407783A>T	VUS	1 lab	8fed646697
2:234669327 UGT1A1 CACAACA>C	2	234669327	234669334	CACAACA	C	UGT1A1	c.396_401del	NM_000463.3	NP_000454.1:p.(His132_Lys134delinsGln)	NC_000002.11:g.234669329_234669334del	VUS	1 lab	8fee2df01a
9:137642400 COL5A1 C>T	9	137642400	137642400	C	T	COL5A1	c.1507C>T	NM_000093.4	NP_000084.3:p.(Arg503Cys)	NC_000009.11:g.137642400C>T	VUS	1 lab	272f93b2ad
X:77912944 RTL3 G>A	X	77912944	77912944	G	A	RTL3	c.974C>T	NM_152694.3	NP_689907.1:p.(Ala325Val)	NC_000023.10:g.77912944G>A	VUS	1 lab	8ff1eb6a49
10:102748017 TWNK T>C	10	102748017	102748017	T	C	TWNK	c.50T>C	NM_021830.5	NP_068602.2:p.(Leu17Pro)	NC_000010.10:g.102748017T>C	(Likely) benign	1 lab	8ff2203224
2:45829131 SRBD1 C>T	2	45829131	45829131	C	T	SRBD1	c.172G>A	NM_018079.5	NP_060549.4:p.(Glu58Lys)	NC_000002.11:g.45829131C>T	(Likely) benign	1 lab	8ff2623586
4:166964579 TLL1 C>A	4	166964579	166964579	C	A	TLL1	c.1524+8C>A	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166964579C>A	(Likely) benign	1 lab	8ff3bb533b
4:148457081 EDNRA C>G	4	148457081	148457081	C	G	EDNRA	c.800C>G	NM_001957.4	NP_001948.1:p.(Pro267Arg)	NC_000004.11:g.148457081C>G	VUS	1 lab	8ff3de27b8
20:43042395 HNF4A G>A	20	43042395	43042395	G	A	HNF4A	c.447G>A	NM_000457.5	NP_000448.3:p.(Leu149=)	NC_000020.10:g.43042395G>A	(Likely) benign	1 lab	8ff76547c5
9:34371960 MYORG C>T	9	34371960	34371960	C	T	MYORG	c.982G>A	NM_020702.5	NP_065753.2:p.(Val328Met)	NC_000009.11:g.34371960C>T	VUS	1 lab	8ff7c717a5
14:64891534 MTHFD1 C>G	14	64891534	64891534	C	G	MTHFD1	c.740C>G	NM_005956.4	NP_005947.3:p.(Pro247Arg)	NC_000014.8:g.64891534C>G	(Likely) benign	1 lab	371a63740b
6:143092682 HIVEP2 G>A	6	143092682	143092682	G	A	HIVEP2	c.3194C>T	NM_006734.4	NP_006725.3:p.(Ala1065Val)	NC_000006.11:g.143092682G>A	(Likely) benign	1 lab	8ff7d0bb3d
8:97274327 PTDSS1 A>G	8	97274327	97274327	A	G	PTDSS1	c.59A>G	NM_014754.3	NP_055569.1:p.(His20Arg)	NC_000008.10:g.97274327A>G	VUS	1 lab	8ff8dcd9ce
7:12382806 VWDE T>C	7	12382806	12382806	T	C	VWDE	c.4079-2A>G	NM_001135924.3	NP_001129396.1:p.?	NC_000007.13:g.12382806T>C	VUS	1 lab	8ff98b2cd3
11:126318895 KIRREL3 T>C	11	126318895	126318895	T	C	KIRREL3	c.997+9A>G	NM_032531.4	NP_115920.1:p.?	NC_000011.9:g.126318895T>C	(Likely) benign	1 lab	8ffa7ae7f5
8:144995474 PLEC TCTC>T	8	144995474	144995480	TCTC	T	PLEC	c.8512_8514del	NM_201384.3	NP_958786.1:p.(Glu2838del)	NC_000008.10:g.144995478_144995480del	VUS	1 lab	8ffa92ab7d
19:38985075 RYR1 A>G	19	38985075	38985075	A	G	RYR1	c.6358A>G	NM_000540.3	NP_000531.2:p.(Met2120Val)	NC_000019.9:g.38985075A>G	VUS	1 lab	8ffacc3230
22:50964859 TYMP C>T	22	50964859	50964859	C	T	TYMP	c.975G>A	NM_001953.5	NP_001944.1:p.(Gln325=)	NC_000022.10:g.50964859C>T	(Likely) benign	1 lab	8ffc001b09
2:179484414 TTN G>A	2	179484414	179484414	G	A	TTN	c.46630C>T	NM_001267550.2	NP_001254479.2:p.(Arg15544Cys)	NC_000002.11:g.179484414G>A	VUS	1 lab	8ffcfee09e
X:70823574 GCNA CGACGACAACAGTGATGATTCGGAAGCTCCT>C	X	70823574	70823633	CGACGACAACAGTGATGATTCGGAAGCTCCT	C	GCNA	c.477_506del	NM_052957.5	NP_443189.1:p.(Glu177_Ser186del)	NC_000023.10:g.70823604_70823633del	VUS	1 lab	8ffd9cc5ab
1:22157579 HSPG2 C>T	1	22157579	22157579	C	T	HSPG2	c.11567G>A	NM_005529.7	NP_005520.4:p.(Gly3856Asp)	NC_000001.10:g.22157579C>T	VUS	1 lab	8ffe8d8b96
9:98241404 PTCH1 G>A	9	98241404	98241404	G	A	PTCH1	c.1093C>T	NM_000264.5	NP_000255.2:p.(Gln365Ter)	NC_000009.11:g.98241404G>A	(Likely) pathogenic	1 lab	25c258f747
9:135932194 GTF3C5 C>T	9	135932194	135932194	C	T	GTF3C5	c.1292C>T	NM_012087.4	NP_036219.2:p.(Ser431Phe)	NC_000009.11:g.135932194C>T	VUS	1 lab	8fff1243f1
15:89400097 ACAN T>G	15	89400097	89400097	T	G	ACAN	c.4281T>G	NM_001369268.1	NP_001356197.1:p.(Asp1427Glu)	NC_000015.9:g.89400097T>G	(Likely) benign	1 lab	8ffff5da7f
7:92732277 SAMD9 C>A	7	92732277	92732277	C	A	SAMD9	c.3134G>T	NM_017654.4	NP_060124.2:p.(Gly1045Val)	NC_000007.13:g.92732277C>A	VUS	1 lab	9000671560
12:106820973 POLR3B A>T	12	106820973	106820973	A	T	POLR3B	c.1102-2A>T	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106820973A>T	(Likely) benign	1 lab	90008c3e36
3:58095901 FLNB C>T	3	58095901	58095901	C	T	FLNB	c.2484+4C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58095901C>T	(Likely) benign	1 lab	90011c4cdf
9:135926311 GTF3C5 G>A	9	135926311	135926311	G	A	GTF3C5	c.714G>A	NM_012087.4	NP_036219.2:p.(Trp238Ter)	NC_000009.11:g.135926311G>A	VUS	1 lab	90031fb7ba
3:48461377 PLXNB1 G>A	3	48461377	48461377	G	A	PLXNB1	c.2318C>T	NM_001130082.3	NP_001123554.1:p.(Pro773Leu)	NC_000003.11:g.48461377G>A	(Likely) benign	1 lab	90068d6488
9:98232132 PTCH1 C>T	9	98232132	98232132	C	T	PTCH1	c.1810G>A	NM_000264.5	NP_000255.2:p.(Glu604Lys)	NC_000009.11:g.98232132C>T	VUS	1 lab	9006d8edc9
16:89265126 SLC22A31 G>A	16	89265126	89265126	G	A	SLC22A31	c.532C>T	NM_001384763.1	NP_001371692.1:p.(Arg178Cys)	NC_000016.9:g.89265126G>A	VUS	1 lab	9006f15adc
7:150721489 ATG9B C>G	7	150721489	150721489	C	G	ATG9B	c.22G>C	NM_001317056.2	NP_001303985.1:p.(Gly8Arg)	NC_000007.13:g.150721489C>G	VUS	1 lab	900b4332b7
11:67925448 KMT5B CCCT>C	11	67925448	67925451	CCCT	C	KMT5B	c.2362_2364del	NM_017635.5	NP_060105.3:p.(Arg788del)	NC_000011.9:g.67925449_67925451del	VUS	1 lab	900c8b3e55
6:157099444 ARID1B G>GCAA	6	157099444	157099447	G	GCAA	ARID1B	c.632_633insACA	NM_001374828.1	NP_001361757.1:p.(Gln214dup)	NC_000006.11:g.157099446_157099447insACA	(Likely) benign	1 lab	900d663563
2:98177285 ANKRD36B C>T	2	98177285	98177285	C	T	ANKRD36B	c.792+10G>A	NM_001393939.1	NP_001380868.1:p.?	NC_000002.11:g.98177285C>T	(Likely) benign	1 lab	900d8cb3fd
10:124377661 DMBT1 G>A	10	124377661	124377661	G	A	DMBT1	c.5020G>A	NM_001377530.1	NP_001364459.1:p.(Val1674Met)	NC_000010.10:g.124377661G>A	(Likely) benign	1 lab	900f0a4d3e
1:200618332 DDX59 G>A	1	200618332	200618332	G	A	DDX59	c.1337C>T	NM_001031725.6	NP_001026895.2:p.(Pro446Leu)	NC_000001.10:g.200618332G>A	VUS	1 lab	90105b8995
9:6565354 GLDC C>T	9	6565354	6565354	C	T	GLDC	c.1926G>A	NM_000170.2	NP_000161.2:p.(Thr642=)	NC_000009.11:g.6565354C>T	(Likely) benign	1 lab	2731741834
7:105204397 RINT1 A>G	7	105204397	105204397	A	G	RINT1	c.1886+3A>G	NM_021930.6	NP_068749.3:p.?	NC_000007.13:g.105204397A>G	VUS	1 lab	90109b8f97
8:22054901 BMP1 C>T	8	22054901	22054901	C	T	BMP1	c.2075C>T	NM_006129.5	NP_006120.1:p.(Ser692Phe)	NC_000008.10:g.22054901C>T	VUS	1 lab	9012187674
9:138649019 KCNT1 G>C	9	138649019	138649019	G	C	KCNT1	c.618G>C	NM_020822.3	NP_065873.2:p.(Gln206His)	NC_000009.11:g.138649019G>C	(Likely) benign	1 lab	9016bc1c25
15:100672213 ADAMTS17 G>A	15	100672213	100672213	G	A	ADAMTS17	c.1720C>T	NM_139057.4	NP_620688.2:p.(Pro574Ser)	NC_000015.9:g.100672213G>A	VUS	1 lab	9017cd7ea3
2:47604178 EPCAM C>T	2	47604178	47604178	C	T	EPCAM	c.517C>T	NM_002354.3	NP_002345.2:p.(Arg173Cys)	NC_000002.11:g.47604178C>T	VUS	1 lab	90b6dcd5bc
14:21882462 CHD8 C>A	14	21882462	21882462	C	A	CHD8	c.2140G>T	NM_001170629.2	NP_001164100.1:p.(Glu714Ter)	NC_000014.8:g.21882462C>A	(Likely) pathogenic	1 lab	9018083bd0
4:114203844 ANK2 C>T	4	114203844	114203844	C	T	ANK2	c.1895C>T	NM_001148.6	NP_001139.3:p.(Pro632Leu)	NC_000004.11:g.114203844C>T	VUS	1 lab	90190b7fbe
4:2829381 SH3BP2 C>T	4	2829381	2829381	C	T	SH3BP2	c.566C>T	NM_001122681.2	NP_001116153.1:p.(Pro189Leu)	NC_000004.11:g.2829381C>T	(Likely) benign	1 lab	9019c3f938
4:10020650 SLC2A9 G>C	4	10020650	10020650	G	C	SLC2A9	c.198C>G	NM_020041.3	NP_064425.2:p.(Gly66=)	NC_000004.11:g.10020650G>C	(Likely) benign	1 lab	27325eca3a
17:3422077 TRPV3 G>A	17	3422077	3422077	G	A	TRPV3	c.1878C>T	NM_001258205.2	NP_001245134.1:p.(Ser626=)	NC_000017.10:g.3422077G>A	(Likely) benign	1 lab	25c3ae2700
11:118376455 KMT2A G>A	11	118376455	118376455	G	A	KMT2A	c.9848G>A	NM_001197104.2	NP_001184033.1:p.(Arg3283Gln)	NC_000011.9:g.118376455G>A	(Likely) benign	1 lab	901acd3493
19:5720023 LONP1 G>C	19	5720023	5720023	G	C	LONP1	c.121C>G	NM_004793.4	NP_004784.2:p.(Arg41Gly)	NC_000019.9:g.5720023G>C	(Likely) benign	1 lab	901b51a2f5
15:89876984 POLGARF ATGGT>A	15	89876984	89876992	ATGGT	A	POLGARF	c.53_56del	NM_001430120.1	NP_001417049.1:p.(Asn18MetfsTer?)	NC_000015.9:g.89876989_89876992del	VUS	1 lab	901c25887c
17:42926696 HIGD1B A>G	17	42926696	42926696	A	G	HIGD1B	c.175A>G	NM_016438.4	NP_057522.1:p.(Ile59Val)	NC_000017.10:g.42926696A>G	VUS	1 lab	901cd7df0f
2:46851304 CRIPT A>G	2	46851304	46851304	A	G	CRIPT	c.244A>G	NM_014171.6	NP_054890.1:p.(Ile82Val)	NC_000002.11:g.46851304A>G	VUS	1 lab	901cdfd344
20:62044888 KCNQ2 G>A	20	62044888	62044888	G	A	KCNQ2	c.1678C>T	NM_172107.4	NP_742105.1:p.(Arg560Trp)	NC_000020.10:g.62044888G>A	VUS	1 lab	901db4f365
5:136314515 SPOCK1 G>A	5	136314515	136314515	G	A	SPOCK1	c.1148C>T	NM_004598.4	NP_004589.1:p.(Ser383Leu)	NC_000005.9:g.136314515G>A	VUS	1 lab	901e911529
12:2681795 CACNA1C C>T	12	2681795	2681795	C	T	CACNA1C	c.1895+4835C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2681795C>T	VUS	1 lab	901f7ff20f
3:15520515 COLQ G>A	3	15520515	15520515	G	A	COLQ	c.367-5C>T	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15520515G>A	(Likely) benign	1 lab	9021f04142
12:111757888 CUX2 C>A	12	111757888	111757888	C	A	CUX2	c.2075C>A	NM_015267.4	NP_056082.2:p.(Ala692Asp)	NC_000012.11:g.111757888C>A	(Likely) benign	1 lab	903e6e3c03
20:43378776 KCNK15 GCCA>G	20	43378776	43378780	GCCA	G	KCNK15	c.292_294del	NM_022358.4	NP_071753.2:p.(His98del)	NC_000020.10:g.43378778_43378780del	VUS	1 lab	90220c7f0d
X:151900338 MAGEA12 A>C	X	151900338	151900338	A	C	MAGEA12	c.463T>G	NM_001166387.4	NP_001159859.1:p.(Ser155Ala)	NC_000023.10:g.151900338A>C	(Likely) benign	1 lab	902270d957
9:406806 DOCK8 A>AC	9	406806	406807	A	AC	DOCK8	c.3391-124_3391-123insC	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.406806_406807insC	VUS	1 lab	371a8a4fd0
7:944817 ADAP1 G>C	7	944817	944817	G	C	ADAP1	c.389-8C>G	NM_006869.4	NP_006860.2:p.?	NC_000007.13:g.944817G>C	(Likely) benign	1 lab	90231c5635
2:179457699 TTN A>G	2	179457699	179457699	A	G	TTN	c.59147T>C	NM_001267550.2	NP_001254479.2:p.(Ile19716Thr)	NC_000002.11:g.179457699A>G	VUS	1 lab	90255aa6ef
15:90210879 PLIN1 G>A	15	90210879	90210879	G	A	PLIN1	c.917C>T	NM_002666.5	NP_002657.3:p.(Thr306Met)	NC_000015.9:g.90210879G>A	VUS	1 lab	90260389d5
13:35770379 NBEA A>G	13	35770379	35770379	A	G	NBEA	c.5306A>G	NM_001385012.1	NP_001371941.1:p.(Asp1769Gly)	NC_000013.10:g.35770379A>G	VUS	1 lab	9026c8a213
X:152845631 ATP2B3 A>C	X	152845631	152845631	A	C	ATP2B3	c.3538A>C	NM_001001344.3	NP_001001344.1:p.(Asn1180His)	NC_000023.10:g.152845631A>C	(Likely) benign	1 lab	9026fed1c1
19:17107961 CPAMD8 G>A	19	17107961	17107961	G	A	CPAMD8	c.1055C>T	NM_015692.5	NP_056507.3:p.(Thr352Met)	NC_000019.9:g.17107961G>A	VUS	1 lab	902856bb6a
9:135277754 TTF1 T>C	9	135277754	135277754	T	C	TTF1	c.455A>G	NM_007344.4	NP_031370.2:p.(His152Arg)	NC_000009.11:g.135277754T>C	VUS	1 lab	9029f10feb
3:124854600 SLC12A8 C>A	3	124854600	124854600	C	A	SLC12A8	c.649G>T	NM_024628.6	NP_078904.4:p.(Glu217Ter)	NC_000003.11:g.124854600C>A	(Likely) benign	1 lab	902a3e7810
X:135496326 ADGRG4 C>A	X	135496326	135496326	C	A	ADGRG4	c.9045C>A	NM_153834.4	NP_722576.3:p.(Ser3015Arg)	NC_000023.10:g.135496326C>A	(Likely) benign	1 lab	902b54637f
1:39854062 MACF1 G>A	1	39854062	39854062	G	A	MACF1	c.15548G>A	NM_001394062.1	NP_001380991.1:p.(Cys5183Tyr)	NC_000001.10:g.39854062G>A	(Likely) benign	1 lab	902dda3463
9:79322653 PRUNE2 G>A	9	79322653	79322653	G	A	PRUNE2	c.4537C>T	NM_015225.3	NP_056040.2:p.(Leu1513Phe)	NC_000009.11:g.79322653G>A	VUS	1 lab	902ef1febc
X:74651277 ZDHHC15 G>A	X	74651277	74651277	G	A	ZDHHC15	c.449+9C>T	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74651277G>A	(Likely) benign	1 lab	9030e4f9e6
16:2149658 PKD1 ATCCGG>A	16	2149658	2149663	ATCCGG	A	PKD1	c.10032_10036del	NM_001009944.3	NP_001009944.3:p.(Arg3345ValfsTer43)	NC_000016.9:g.2149659_2149663del	(Likely) pathogenic	1 lab	90315b9af8
16:2169186 PKD1 C>T	16	2169186	2169186	C	T	PKD1	c.288G>A	NM_001009944.3	NP_001009944.3:p.(Leu96=)	NC_000016.9:g.2169186C>T	(Likely) benign	1 lab	903268bf48
2:88895064 EIF2AK3 A>G	2	88895064	88895064	A	G	EIF2AK3	c.556T>C	NM_004836.7	NP_004827.4:p.(Tyr186His)	NC_000002.11:g.88895064A>G	VUS	1 lab	9034b4da83
5:13839467 DNAH5 G>A	5	13839467	13839467	G	A	DNAH5	c.5880C>T	NM_001369.3	NP_001360.1:p.(Asp1960=)	NC_000005.9:g.13839467G>A	VUS	1 lab	9034debb89
5:149497347 PDGFRB G>A	5	149497347	149497347	G	A	PDGFRB	c.2971C>T	NM_002609.4	NP_002600.1:p.(Arg991Cys)	NC_000005.9:g.149497347G>A	(Likely) benign	1 lab	90386ca56b
16:19710824 VPS35L G>A	16	19710824	19710824	G	A	VPS35L	c.2647G>A	NM_020314.7	NP_064710.5:p.(Ala883Thr)	NC_000016.9:g.19710824G>A	(Likely) benign	1 lab	90387f9bb0
4:154471243 TMEM131L T>G	4	154471243	154471243	T	G	TMEM131L	c.258T>G	NM_001131007.2	NP_001124479.1:p.(Phe86Leu)	NC_000004.11:g.154471243T>G	VUS	1 lab	90388df8e0
18:56016856 NEDD4L C>G	18	56016856	56016856	C	G	NEDD4L	c.1653+10C>G	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56016856C>G	(Likely) benign	1 lab	9038cb2954
5:1279386 TERT C>T	5	1279386	1279386	C	T	TERT	c.2130+20G>A	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1279386C>T	(Likely) benign	1 lab	9038dacaf4
6:43012565 CUL7 C>T	6	43012565	43012565	C	T	CUL7	c.3097G>A	NM_014780.5	NP_055595.2:p.(Glu1033Lys)	NC_000006.11:g.43012565C>T	VUS	1 lab	9039d2b791
12:121986863 KDM2B T>C	12	121986863	121986863	T	C	KDM2B	c.602A>G	NM_032590.5	NP_115979.3:p.(Asn201Ser)	NC_000012.11:g.121986863T>C	VUS	1 lab	25c601f46b
13:111160306 COL4A2 G>A	13	111160306	111160306	G	A	COL4A2	c.4619G>A	NM_001846.4	NP_001837.2:p.(Arg1540Gln)	NC_000013.10:g.111160306G>A	VUS	1 lab	903e4eaec1
7:128491689 FLNC C>T	7	128491689	128491689	C	T	FLNC	c.5842+7C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128491689C>T	(Likely) benign	1 lab	273861a890
11:111728461 ALG9 C>T	11	111728461	111728461	C	T	ALG9	c.566-1G>A	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111728461C>T	(Likely) pathogenic	1 lab	90418f2710
17:75484932 SEPTIN9 C>T	17	75484932	75484932	C	T	SEPTIN9	c.1194C>T	NM_006640.4	NP_006631.2:p.(Pro398=)	NC_000017.10:g.75484932C>T	(Likely) benign	1 lab	273a20e0bc
10:29812634 SVIL T>A	10	29812634	29812634	T	A	SVIL	c.2909A>T	NM_021738.3	NP_068506.2:p.(Glu970Val)	NC_000010.10:g.29812634T>A	VUS	1 lab	90447a915c
11:66617823 PC A>T	11	66617823	66617823	A	T	PC	c.2586T>A	NM_001040716.2	NP_001035806.1:p.(Tyr862Ter)	NC_000011.9:g.66617823A>T	VUS	1 lab	9045d27e6e
15:38746370 FAM98B G>A	15	38746370	38746370	G	A	FAM98B	c.8G>A	NM_173611.4	NP_775882.2:p.(Gly3Glu)	NC_000015.9:g.38746370G>A	VUS	1 lab	9047db5fd4
21:41516655 DSCAM G>A	21	41516655	41516655	G	A	DSCAM	c.3022C>T	NM_001389.5	NP_001380.2:p.(Pro1008Ser)	NC_000021.8:g.41516655G>A	VUS	1 lab	904810a24c
14:21831457 SUPT16H TCTC>T	14	21831457	21831469	TCTC	T	SUPT16H	c.1327_1329del	NM_007192.4	NP_009123.1:p.(Glu443del)	NC_000014.8:g.21831467_21831469del	VUS	1 lab	9048705a40
11:103060484 DYNC2H1 T>A	11	103060484	103060484	T	A	DYNC2H1	c.7376T>A	NM_001377.3	NP_001368.2:p.(Ile2459Asn)	NC_000011.9:g.103060484T>A	VUS	1 lab	9048a54efb
11:31815108 PAX6 G>A	11	31815108	31815108	G	A	PAX6	c.959-7C>T	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31815108G>A	(Likely) benign	1 lab	9049e230a3
2:241709105 KIF1A C>T	2	241709105	241709105	C	T	KIF1A	c.1360G>A	NM_001244008.2	NP_001230937.1:p.(Ala454Thr)	NC_000002.11:g.241709105C>T	VUS	1 lab	904d32d112
1:237947601 RYR2 A>G	1	237947601	237947601	A	G	RYR2	c.12589A>G	NM_001035.3	NP_001026.2:p.(Ile4197Val)	NC_000001.10:g.237947601A>G	VUS	1 lab	273c13e25c
1:43212873 P3H1 C>A	1	43212873	43212873	C	A	P3H1	c.2055+70G>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43212873C>A	(Likely) benign	1 lab	904d36a4ea
15:63904573 HERC1 G>T	15	63904573	63904573	G	T	HERC1	c.14277C>A	NM_003922.4	NP_003913.3:p.(His4759Gln)	NC_000015.9:g.63904573G>T	(Likely) benign	1 lab	904fadf6b2
12:94729439 CEP83 A>G	12	94729439	94729439	A	G	CEP83	c.1345T>C	NM_016122.3	NP_057206.2:p.(Leu449=)	NC_000012.11:g.94729439A>G	(Likely) benign	1 lab	904fc66e5b
13:111114509 COL4A2 G>C	13	111114509	111114509	G	C	COL4A2	c.1645G>C	NM_001846.4	NP_001837.2:p.(Asp549His)	NC_000013.10:g.111114509G>C	VUS	1 lab	907954ac04
6:16327864 ATXN1 G>GTGCTGCTGCTGC	6	16327864	16327908	G	GTGCTGCTGCTGC	ATXN1	c.666_677dup	NM_001128164.2	NP_001121636.1:p.(Gln222_Gln225dup)	NC_000006.11:g.16327897_16327908dup	VUS	1 lab	905109109a
12:110252292 TRPV4 T>C	12	110252292	110252292	T	C	TRPV4	c.310A>G	NM_021625.5	NP_067638.3:p.(Met104Val)	NC_000012.11:g.110252292T>C	VUS	1 lab	90551cdb6f
17:56557545 HSF5 C>T	17	56557545	56557545	C	T	HSF5	c.634G>A	NM_001080439.3	NP_001073908.2:p.(Asp212Asn)	NC_000017.10:g.56557545C>T	(Likely) benign	1 lab	90568e9680
3:157823581 SHOX2 A>ACACCTCCTC	3	157823581	157823591	A	ACACCTCCTC	SHOX2	c.224_232dup	NM_001163678.2	NP_001157150.1:p.(Gly75_Gly77dup)	NC_000003.11:g.157823583_157823591dup	(Likely) benign	1 lab	9058395030
4:6293644 WFS1 A>G	4	6293644	6293644	A	G	WFS1	c.632A>G	NM_006005.3	NP_005996.2:p.(Asp211Gly)	NC_000004.11:g.6293644A>G	VUS	1 lab	9058936ccb
21:47423044 COL6A1 TCCAGATTACACCTGCC>T	21	47423044	47423064	TCCAGATTACACCTGCC	T	COL6A1	c.2450_2464+1del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47423049_47423064del	VUS	1 lab	9058cb8caf
6:33156261 COL11A2 T>A	6	33156261	33156261	T	A	COL11A2	c.484A>T	NM_080680.3	NP_542411.2:p.(Thr162Ser)	NC_000006.11:g.33156261T>A	VUS	1 lab	905903492b
11:65325273 LTBP3 C>T	11	65325273	65325273	C	T	LTBP3	c.158G>A	NM_001130144.3	NP_001123616.1:p.(Gly53Glu)	NC_000011.9:g.65325273C>T	VUS	1 lab	9059c18809
2:241537399 CAPN10 G>A	2	241537399	241537399	G	A	CAPN10	c.1838G>A	NM_023083.4	NP_075571.2:p.(Ser613Asn)	NC_000002.11:g.241537399G>A	VUS	1 lab	905b9bfdab
3:64601793 ADAMTS9 C>T	3	64601793	64601793	C	T	ADAMTS9	c.2867G>A	NM_182920.2	NP_891550.1:p.(Arg956His)	NC_000003.11:g.64601793C>T	VUS	1 lab	905d5942a1
X:135754225 ARHGEF6 T>C	X	135754225	135754225	T	C	ARHGEF6	c.2089A>G	NM_004840.3	NP_004831.1:p.(Ile697Val)	NC_000023.10:g.135754225T>C	VUS	1 lab	905ebed538
6:29796392 HLA-G A>G	6	29796392	29796392	A	G	HLA-G	c.416A>G	NM_001384290.1	NP_001371219.1:p.(Gln139Arg)	NC_000006.11:g.29796392A>G	VUS	1 lab	905f9c8616
13:113530171 ATP11A GCT>G	13	113530171	113530173	GCT	G	ATP11A	c.3244_3245del	NM_015205.3	NP_056020.2:p.(Leu1082GlyfsTer29)	NC_000013.10:g.113530172_113530173del	VUS	1 lab	9060ab2f52
16:3808052 CREBBP TA>T	16	3808052	3808065	TA	T	CREBBP	c.3370-4del	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3808065del	(Likely) benign	1 lab	9063c122f4
2:219209228 PNKD G>A	2	219209228	219209228	G	A	PNKD	c.919G>A	NM_015488.5	NP_056303.3:p.(Glu307Lys)	NC_000002.11:g.219209228G>A	(Likely) benign	1 lab	25c671c158
2:219498848 ZNF142 A>G	2	219498848	219498848	A	G	ZNF142	c.*4214T>C	NM_001379659.1	NP_001366588.1:p.?	NC_000002.11:g.219498848A>G	VUS	1 lab	9067edf413
3:135969363 PCCB G>C	3	135969363	135969363	G	C	PCCB	c.146G>C	NM_000532.5	NP_000523.2:p.(Gly49Ala)	NC_000003.11:g.135969363G>C	VUS	1 lab	90688deb64
8:144994750 PLEC T>C	8	144994750	144994750	T	C	PLEC	c.9239A>G	NM_201384.3	NP_958786.1:p.(Glu3080Gly)	NC_000008.10:g.144994750T>C	VUS	1 lab	90688ef86a
4:3124638 HTT C>A	4	3124638	3124638	C	A	HTT	c.1296C>A	NM_001388492.1	NP_001375421.1:p.(Ser432Arg)	NC_000004.11:g.3124638C>A	VUS	1 lab	9069e37fed
3:81754835 GBE1 T>A	3	81754835	81754835	T	A	GBE1	c.144-71A>T	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81754835T>A	(Likely) benign	1 lab	906a21f6e5
1:144863360 PDE4DIP T>C	1	144863360	144863360	T	C	PDE4DIP	c.6241A>G	NM_001395426.1	NP_001382355.1:p.(Ile2081Val)	NC_000001.10:g.144863360T>C	VUS	1 lab	906ad1ac3f
6:30632990 DHX16 C>T	6	30632990	30632990	C	T	DHX16	c.983G>A	NM_003587.5	NP_003578.2:p.(Arg328His)	NC_000006.11:g.30632990C>T	VUS	1 lab	906adeb63f
16:3075704 THOC6 T>C	16	3075704	3075704	T	C	THOC6	c.40-5T>C	NM_024339.5	NP_077315.2:p.?	NC_000016.9:g.3075704T>C	(Likely) benign	1 lab	906b23b44d
8:77618233 ZFHX4 C>G	8	77618233	77618233	C	G	ZFHX4	c.1910C>G	NM_024721.5	NP_078997.4:p.(Ser637Trp)	NC_000008.10:g.77618233C>G	VUS	1 lab	906b6e4801
8:116430670 TRPS1 C>A	8	116430670	116430670	C	A	TRPS1	c.2711G>T	NM_014112.5	NP_054831.2:p.(Gly904Val)	NC_000008.10:g.116430670C>A	VUS	1 lab	906b7078ed
12:49445925 KMT2D G>A	12	49445925	49445925	G	A	KMT2D	c.1541C>T	NM_003482.4	NP_003473.3:p.(Pro514Leu)	NC_000012.11:g.49445925G>A	VUS	1 lab	906b782222
2:112621399 ANAPC1 G>T	2	112621399	112621399	G	T	ANAPC1	c.905C>A	NM_022662.4	NP_073153.1:p.(Thr302Lys)	NC_000002.11:g.112621399G>T	VUS	1 lab	9079988b69
1:162722890 DDR2 T>C	1	162722890	162722890	T	C	DDR2	c.88T>C	NM_006182.4	NP_006173.2:p.(Cys30Arg)	NC_000001.10:g.162722890T>C	VUS	1 lab	906fdcf7c4
4:140262070 NAA15 G>T	4	140262070	140262070	G	T	NAA15	c.249G>T	NM_057175.5	NP_476516.1:p.(Trp83Cys)	NC_000004.11:g.140262070G>T	VUS	1 lab	9070785768
15:89860043 FANCI A>G	15	89860043	89860043	A	G	FANCI	c.*353A>G	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89860043A>G	VUS	1 lab	9070d3c305
7:2649765 IQCE C>T	7	2649765	2649765	C	T	IQCE	c.2057C>T	NM_152558.5	NP_689771.3:p.(Pro686Leu)	NC_000007.13:g.2649765C>T	(Likely) benign	1 lab	9072aa9bea
15:89382289 ACAN C>G	15	89382289	89382289	C	G	ACAN	c.454+12C>G	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89382289C>G	(Likely) benign	1 lab	9073065695
3:135914002 MSL2 G>C	3	135914002	135914002	G	C	MSL2	c.-47C>G	NM_018133.4	NP_060603.2:p.?	NC_000003.11:g.135914002G>C	VUS	1 lab	90749c3d3f
14:59112677 DACT1 G>A	14	59112677	59112677	G	A	DACT1	c.1225G>A	NM_001079520.2	NP_001072988.1:p.(Asp409Asn)	NC_000014.8:g.59112677G>A	(Likely) benign	1 lab	9074d3f68b
4:16204174 TAPT1 C>T	4	16204174	16204174	C	T	TAPT1	c.360G>A	NM_153365.3	NP_699196.2:p.(Leu120=)	NC_000004.11:g.16204174C>T	VUS	1 lab	9075d8a2d1
2:179474232 TTN C>A	2	179474232	179474232	C	A	TTN	c.51805G>T	NM_001267550.2	NP_001254479.2:p.(Ala17269Ser)	NC_000002.11:g.179474232C>A	VUS	1 lab	9076b59793
6:29640303 ZFP57 C>T	6	29640303	29640303	C	T	ZFP57	c.1585G>A	NM_001109809.5	NP_001103279.2:p.(Ala529Thr)	NC_000006.11:g.29640303C>T	VUS	1 lab	90776d3841
1:5937328 NPHP4 G>A	1	5937328	5937328	G	A	NPHP4	c.2642C>T	NM_015102.5	NP_055917.1:p.(Ala881Val)	NC_000001.10:g.5937328G>A	VUS	1 lab	90791c50f9
1:152281858 FLG C>G	1	152281858	152281858	C	G	FLG	c.5504G>C	NM_002016.2	NP_002007.1:p.(Ser1835Thr)	NC_000001.10:g.152281858C>G	(Likely) benign	1 lab	907b911f99
13:110839491 COL4A1 GC>G	13	110839491	110839494	GC	G	COL4A1	c.1721del	NM_001845.6	NP_001836.3:p.(Gly574AlafsTer6)	NC_000013.10:g.110839494del	(Likely) pathogenic	1 lab	273c414599
X:141291456 MAGEC2 A>G	X	141291456	141291456	A	G	MAGEC2	c.318T>C	NM_016249.4	NP_057333.1:p.(Ser106=)	NC_000023.10:g.141291456A>G	(Likely) benign	1 lab	907f6db002
18:12377051 AFG3L2 G>A	18	12377051	12377051	G	A	AFG3L2	c.31C>T	NM_006796.3	NP_006787.2:p.(Arg11Trp)	NC_000018.9:g.12377051G>A	(Likely) benign	1 lab	90801d1af4
19:1051932 ABCA7 C>T	19	1051932	1051932	C	T	ABCA7	c.2963-9C>T	NM_019112.4	NP_061985.2:p.?	NC_000019.9:g.1051932C>T	(Likely) benign	1 lab	90819a0d57
13:37580280 EXOSC8 T>G	13	37580280	37580280	T	G	EXOSC8	c.373T>G	NM_181503.3	NP_852480.1:p.(Cys125Gly)	NC_000013.10:g.37580280T>G	VUS	1 lab	9081b57bd5
10:17646056 HACD1 A>T	10	17646056	17646056	A	T	HACD1	c.258-10T>A	NM_014241.4	NP_055056.3:p.?	NC_000010.10:g.17646056A>T	VUS	1 lab	90828021f1
20:39989972 EMILIN3 C>T	20	39989972	39989972	C	T	EMILIN3	c.2237G>A	NM_052846.2	NP_443078.1:p.(Arg746Gln)	NC_000020.10:g.39989972C>T	VUS	1 lab	9082b6c80c
1:3348714 PRDM16 C>T	1	3348714	3348714	C	T	PRDM16	c.3696+10C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3348714C>T	(Likely) benign	1 lab	90836d4721
22:24583364 SUSD2 C>T	22	24583364	24583364	C	T	SUSD2	c.1837C>T	NM_019601.4	NP_062547.1:p.(Arg613Cys)	NC_000022.10:g.24583364C>T	VUS	1 lab	90868ba99d
16:89346798 ANKRD11 G>A	16	89346798	89346798	G	A	ANKRD11	c.6152C>T	NM_013275.6	NP_037407.4:p.(Ser2051Leu)	NC_000016.9:g.89346798G>A	(Likely) benign	1 lab	90872075e6
15:25665801 UBE3A A>C	15	25665801	25665801	A	C	UBE3A	c.-164-8683T>G	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25665801A>C	(Likely) benign	1 lab	9089f478b2
2:128407597 LIMS2 G>A	2	128407597	128407597	G	A	LIMS2	c.359+4401C>T	NM_001161403.3	NP_001154875.1:p.?	NC_000002.11:g.128407597G>A	(Likely) benign	1 lab	908b1a8078
22:50316906 CRELD2 C>T	22	50316906	50316906	C	T	CRELD2	c.713C>T	NM_024324.5	NP_077300.3:p.(Pro238Leu)	NC_000022.10:g.50316906C>T	(Likely) benign	1 lab	908b61eb43
1:186099654 HMCN1 A>G	1	186099654	186099654	A	G	HMCN1	c.13055A>G	NM_031935.3	NP_114141.2:p.(Lys4352Arg)	NC_000001.10:g.186099654A>G	(Likely) benign	1 lab	90906c2ad7
X:106243098 MORC4 C>G	X	106243098	106243098	C	G	MORC4	c.102G>C	NM_024657.5	NP_078933.3:p.(Thr34=)	NC_000023.10:g.106243098C>G	VUS	1 lab	9091a7f23a
10:12160845 DHTKD1 C>T	10	12160845	12160845	C	T	DHTKD1	c.2500C>T	NM_018706.7	NP_061176.4:p.(Arg834Ter)	NC_000010.10:g.12160845C>T	(Likely) pathogenic	1 lab	25cf50a67b
16:10031825 GRIN2A G>T	16	10031825	10031825	G	T	GRIN2A	c.998C>A	NM_001134407.3	NP_001127879.1:p.(Thr333Asn)	NC_000016.9:g.10031825G>T	VUS	1 lab	9092eadeee
13:52523907 ATP7B C>T	13	52523907	52523907	C	T	ATP7B	c.2756G>A	NM_000053.4	NP_000044.2:p.(Arg919Gln)	NC_000013.10:g.52523907C>T	(Likely) benign	1 lab	90941102ac
10:81472107 NUTM2B T>C	10	81472107	81472107	T	C	NUTM2B	c.2503T>C	NM_001278495.2	NP_001265424.1:p.(Tyr835His)	NC_000010.10:g.81472107T>C	(Likely) benign	1 lab	909834f04b
X:8521996 ANOS1 C>T	X	8521996	8521996	C	T	ANOS1	c.1351G>A	NM_000216.4	NP_000207.2:p.(Glu451Lys)	NC_000023.10:g.8521996C>T	(Likely) benign	1 lab	9098bfacaa
9:131810783 MIGA2 A>G	9	131810783	131810783	A	G	MIGA2	c.385A>G	NM_001329990.2	NP_001316919.1:p.(Ser129Gly)	NC_000009.11:g.131810783A>G	VUS	1 lab	9098ccd923
2:179447824 TTN T>G	2	179447824	179447824	T	G	TTN	c.65706A>C	NM_001267550.2	NP_001254479.2:p.(Thr21902=)	NC_000002.11:g.179447824T>G	(Likely) benign	1 lab	909b9c84c8
14:68215361 ZFYVE26 C>G	14	68215361	68215361	C	G	ZFYVE26	c.7417-5G>C	NM_015346.4	NP_056161.2:p.?	NC_000014.8:g.68215361C>G	(Likely) benign	1 lab	909cde4eaf
15:31619708 KLF13 TGCC>T	15	31619708	31619717	TGCC	T	KLF13	c.300_302del	NM_015995.4	NP_057079.2:p.(Pro101del)	NC_000015.9:g.31619715_31619717del	(Likely) benign	1 lab	909d44285a
9:441737 DOCK8 T>A	9	441737	441737	T	A	DOCK8	c.5356-138T>A	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.441737T>A	(Likely) benign	1 lab	273fe16463
22:31335959 MORC2 G>A	22	31335959	31335959	G	A	MORC2	c.974C>T	NM_001303256.3	NP_001290185.1:p.(Thr325Met)	NC_000022.10:g.31335959G>A	VUS	1 lab	90a198262e
10:97373851 ALDH18A1 C>A	10	97373851	97373851	C	A	ALDH18A1	c.1673G>T	NM_002860.4	NP_002851.2:p.(Arg558Leu)	NC_000010.10:g.97373851C>A	VUS	1 lab	90a1df727a
13:78492763 EDNRB G>C	13	78492763	78492763	G	C	EDNRB	c.-55C>G	NM_001122659.3	NP_001116131.1:p.?	NC_000013.10:g.78492763G>C	(Likely) benign	1 lab	90a341aef6
12:121434533 HNF1A AC>A	12	121434533	121434536	AC	A	HNF1A	c.1300del	NM_000545.8	NP_000536.6:p.(Leu434TrpfsTer23)	NC_000012.11:g.121434536del	(Likely) pathogenic	1 lab	90a468ec01
2:241659270 KIF1A G>A	2	241659270	241659270	G	A	KIF1A	c.4942C>T	NM_001244008.2	NP_001230937.1:p.(Pro1648Ser)	NC_000002.11:g.241659270G>A	VUS	1 lab	90a4c60060
1:1961584 GABRD C>T	1	1961584	1961584	C	T	GABRD	c.1222C>T	NM_000815.5	NP_000806.2:p.(Arg408Cys)	NC_000001.10:g.1961584C>T	VUS	1 lab	90a5ae68dc
19:2456709 LMNB2 G>C	19	2456709	2456709	G	C	LMNB2	c.223C>G	NM_032737.4	NP_116126.3:p.(Leu75Val)	NC_000019.9:g.2456709G>C	(Likely) benign	1 lab	90a5c524b5
1:111146818 KCNA2 T>C	1	111146818	111146818	T	C	KCNA2	c.587A>G	NM_004974.4	NP_004965.1:p.(His196Arg)	NC_000001.10:g.111146818T>C	VUS	1 lab	90a83aa163
21:27425587 APP C>T	21	27425587	27425587	C	T	APP	c.433G>A	NM_000484.4	NP_000475.1:p.(Glu145Lys)	NC_000021.8:g.27425587C>T	VUS	1 lab	90a8c6cf22
6:87970251 ZNF292 A>G	6	87970251	87970251	A	G	ZNF292	c.6904A>G	NM_015021.3	NP_055836.1:p.(Met2302Val)	NC_000006.11:g.87970251A>G	(Likely) benign	1 lab	90aaa3588e
3:172166104 GHSR G>T	3	172166104	172166104	G	T	GHSR	c.100C>A	NM_198407.2	NP_940799.1:p.(Leu34Met)	NC_000003.11:g.172166104G>T	(Likely) benign	1 lab	90abfd18cf
1:113662037 LRIG2 A>G	1	113662037	113662037	A	G	LRIG2	c.2863A>G	NM_014813.3	NP_055628.1:p.(Thr955Ala)	NC_000001.10:g.113662037A>G	VUS	1 lab	90ac5483e0
7:44189585 GCK C>T	7	44189585	44189585	C	T	GCK	c.562G>A	NM_000162.5	NP_000153.1:p.(Ala188Thr)	NC_000007.13:g.44189585C>T	(Likely) pathogenic	1 lab	90ad4f5e18
3:130300513 COL6A6 G>A	3	130300513	130300513	G	A	COL6A6	c.3656G>A	NM_001102608.3	NP_001096078.1:p.(Arg1219His)	NC_000003.11:g.130300513G>A	(Likely) benign	1 lab	90af6ab99f
17:17061767 MPRIP C>G	17	17061767	17061767	C	G	MPRIP	c.1851C>G	NM_001364716.4	NP_001351645.2:p.(Asn617Lys)	NC_000017.10:g.17061767C>G	(Likely) benign	1 lab	90b0198507
X:1748834 ASMT T>C	X	1748834	1748834	T	C	ASMT	c.562+2T>C	NM_001171038.2	NP_001164509.1:p.?	NC_000023.10:g.1748834T>C	VUS	1 lab	90b1236032
19:15299901 NOTCH3 G>A	19	15299901	15299901	G	A	NOTCH3	c.1277C>T	NM_000435.3	NP_000426.2:p.(Pro426Leu)	NC_000019.9:g.15299901G>A	VUS	1 lab	90b1d71abd
19:49657792 HRC C>T	19	49657792	49657792	C	T	HRC	c.703G>A	NM_002152.3	NP_002143.1:p.(Gly235Ser)	NC_000019.9:g.49657792C>T	VUS	1 lab	90b26ca485
11:17416710 ABCC8 A>G	11	17416710	17416710	A	G	ABCC8	c.4411+9T>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17416710A>G	(Likely) benign	1 lab	90b2d28901
3:49866640 TRAIP G>A	3	49866640	49866640	G	A	TRAIP	c.1306C>T	NM_005879.3	NP_005870.2:p.(Arg436Cys)	NC_000003.11:g.49866640G>A	VUS	1 lab	90b4e99b44
12:102874115 IGF1 G>C	12	102874115	102874115	G	C	IGF1	c.45C>G	NM_000618.5	NP_000609.1:p.(Cys15Trp)	NC_000012.11:g.102874115G>C	(Likely) benign	1 lab	90b6625d94
17:17698931 RAI1 C>T	17	17698931	17698931	C	T	RAI1	c.2669C>T	NM_030665.4	NP_109590.3:p.(Pro890Leu)	NC_000017.10:g.17698931C>T	(Likely) benign	1 lab	90b7b08a42
17:6329914 AIPL1 C>T	17	6329914	6329914	C	T	AIPL1	c.784+21G>A	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6329914C>T	(Likely) benign	1 lab	90b8136129
2:242674646 D2HGDH C>T	2	242674646	242674646	C	T	D2HGDH	c.7C>T	NM_152783.5	NP_689996.4:p.(Pro3Ser)	NC_000002.11:g.242674646C>T	VUS	1 lab	90ba5a5e2a
7:65445300 GUSB G>A	7	65445300	65445300	G	A	GUSB	c.307C>T	NM_000181.4	NP_000172.2:p.(Arg103Trp)	NC_000007.13:g.65445300G>A	(Likely) pathogenic	1 lab	90bf6d6f9f
12:122064855 ORAI1 G>T	12	122064855	122064855	G	T	ORAI1	c.202G>T	NM_032790.4	NP_116179.2:p.(Glu68Ter)	NC_000012.11:g.122064855G>T	VUS	1 lab	90c050b902
1:84644850 PRKACB A>G	1	84644850	84644850	A	G	PRKACB	c.188-10A>G	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84644850A>G	(Likely) benign	1 lab	90c40b9567
16:84213952 TAF1C T>C	16	84213952	84213952	T	C	TAF1C	c.1309-2A>G	NM_001243156.2	NP_001230085.2:p.?	NC_000016.9:g.84213952T>C	VUS	1 lab	90c4342dc7
22:50719548 PLXNB2 C>T	22	50719548	50719548	C	T	PLXNB2	c.3733G>A	NM_012401.4	NP_036533.2:p.(Val1245Met)	NC_000022.10:g.50719548C>T	VUS	1 lab	90c4792937
5:149907760 NDST1 G>A	5	149907760	149907760	G	A	NDST1	c.908G>A	NM_001543.5	NP_001534.1:p.(Gly303Glu)	NC_000005.9:g.149907760G>A	VUS	1 lab	90c498a612
2:241528817 CAPN10 C>T	2	241528817	241528817	C	T	CAPN10	c.199C>T	NM_023083.4	NP_075571.2:p.(Gln67Ter)	NC_000002.11:g.241528817C>T	VUS	1 lab	90c561d3a4
2:152467119 NEB A>C	2	152467119	152467119	A	C	NEB	c.11929T>G	NM_001164508.2	NP_001157980.2:p.(Trp3977Gly)	NC_000002.11:g.152467119A>C	VUS	1 lab	90c5d5ada4
9:14846062 FREM1 C>T	9	14846062	14846062	C	T	FREM1	c.1289G>A	NM_001379081.2	NP_001366010.1:p.(Arg430Gln)	NC_000009.11:g.14846062C>T	VUS	1 lab	90c80c7903
1:1425971 ATAD3B G>A	1	1425971	1425971	G	A	ATAD3B	c.1534G>A	NM_031921.6	NP_114127.3:p.(Gly512Arg)	NC_000001.10:g.1425971G>A	(Likely) benign	1 lab	90c84d34f5
16:2152134 PKD1 TG>T	16	2152134	2152136	TG	T	PKD1	c.9324del	NM_001009944.3	NP_001009944.3:p.(Ile3109SerfsTer207)	NC_000016.9:g.2152136del	(Likely) pathogenic	1 lab	90c8e66fd0
1:155254459 HCN3 G>A	1	155254459	155254459	G	A	HCN3	c.1000G>A	NM_020897.3	NP_065948.1:p.(Val334Ile)	NC_000001.10:g.155254459G>A	(Likely) benign	1 lab	90c97b810e
3:58087987 FLNB G>A	3	58087987	58087987	G	A	FLNB	c.1403G>A	NM_001457.4	NP_001448.2:p.(Arg468His)	NC_000003.11:g.58087987G>A	VUS	1 lab	90cb041383
8:144890852 SCRIB C>T	8	144890852	144890852	C	T	SCRIB	c.2042G>A	NM_182706.5	NP_874365.3:p.(Arg681Lys)	NC_000008.10:g.144890852C>T	(Likely) benign	1 lab	90cb974db9
7:31013623 GHRHR C>T	7	31013623	31013623	C	T	GHRHR	c.621C>T	NM_000823.4	NP_000814.2:p.(Ala207=)	NC_000007.13:g.31013623C>T	(Likely) benign	1 lab	90cc5a950b
1:145304656 NBPF10 G>A	1	145304656	145304656	G	A	NBPF10	c.1585+4G>A	NM_001302371.3	NP_001289300.1:p.?	NC_000001.10:g.145304656G>A	(Likely) benign	1 lab	90ccd12e00
5:178413205 GRM6 G>A	5	178413205	178413205	G	A	GRM6	c.2050C>T	NM_000843.4	NP_000834.2:p.(Arg684Cys)	NC_000005.9:g.178413205G>A	VUS	1 lab	90cddc9407
16:31096561 PRSS53 C>G	16	31096561	31096561	C	G	PRSS53	c.904G>C	NM_001039503.3	NP_001034592.1:p.(Ala302Pro)	NC_000016.9:g.31096561C>G	VUS	1 lab	90ce68ad77
12:122260638 SETD1B G>A	12	122260638	122260638	G	A	SETD1B	c.4153G>A	NM_001353345.2	NP_001340274.1:p.(Gly1385Arg)	NC_000012.11:g.122260638G>A	VUS	1 lab	90cede65c8
X:149680679 MAMLD1 A>G	X	149680679	149680679	A	G	MAMLD1	c.*450A>G	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680679A>G	(Likely) benign	1 lab	90d06e3c5b
17:41244664 BRCA1 C>A	17	41244664	41244664	C	A	BRCA1	c.2884G>T	NM_007294.4	NP_009225.1:p.(Glu962Ter)	NC_000017.10:g.41244664C>A	(Likely) pathogenic	1 lab	90d144e9d2
16:2155888 PKD1 G>A	16	2155888	2155888	G	A	PKD1	c.7841C>T	NM_001009944.3	NP_001009944.3:p.(Ala2614Val)	NC_000016.9:g.2155888G>A	VUS	1 lab	90d24ff9fd
19:11095980 SMARCA4 C>T	19	11095980	11095980	C	T	SMARCA4	c.254C>T	NM_003072.5	NP_003063.2:p.(Ser85Leu)	NC_000019.9:g.11095980C>T	(Likely) benign	1 lab	90d2b44d00
1:51439959 CDKN2C C>G	1	51439959	51439959	C	G	CDKN2C	c.*17C>G	NM_001262.2	NP_001253.1:p.?	NC_000001.10:g.51439959C>G	(Likely) benign	1 lab	274001b0cb
9:72723339 MAMDC2 C>A	9	72723339	72723339	C	A	MAMDC2	c.361C>A	NM_153267.5	NP_694999.3:p.(Pro121Thr)	NC_000009.11:g.72723339C>A	(Likely) benign	1 lab	90d4cf3394
12:122723139 VPS33A G>T	12	122723139	122723139	G	T	VPS33A	c.1297C>A	NM_022916.6	NP_075067.2:p.(Leu433Ile)	NC_000012.11:g.122723139G>T	VUS	1 lab	90d5c7e7d4
17:2203109 SMG6 T>C	17	2203109	2203109	T	C	SMG6	c.938A>G	NM_017575.5	NP_060045.4:p.(Asp313Gly)	NC_000017.10:g.2203109T>C	(Likely) benign	1 lab	90d71fa79b
2:11777842 GREB1 G>C	2	11777842	11777842	G	C	GREB1	c.5347G>C	NM_014668.4	NP_055483.2:p.(Val1783Leu)	NC_000002.11:g.11777842G>C	(Likely) benign	1 lab	90d8866e68
12:51102334 DIP2B C>T	12	51102334	51102334	C	T	DIP2B	c.2638C>T	NM_173602.3	NP_775873.2:p.(Arg880Cys)	NC_000012.11:g.51102334C>T	VUS	1 lab	90d9dd848e
12:52912940 KRT5 C>G	12	52912940	52912940	C	G	KRT5	c.560G>C	NM_000424.4	NP_000415.2:p.(Arg187Pro)	NC_000012.11:g.52912940C>G	(Likely) pathogenic	1 lab	25d50e5a48
17:40364131 STAT5B G>A	17	40364131	40364131	G	A	STAT5B	c.1551C>T	NM_012448.4	NP_036580.2:p.(Ala517=)	NC_000017.10:g.40364131G>A	(Likely) benign	1 lab	90db8f1cf2
X:39932122 BCOR AAGCTGGGTTTG>A	X	39932122	39932133	AAGCTGGGTTTG	A	BCOR	c.2466_2476del	NM_001123385.2	NP_001116857.1:p.(Lys823CysfsTer10)	NC_000023.10:g.39932123_39932133del	VUS	1 lab	90dc1f2f6c
13:41367296 SLC25A15 A>T	13	41367296	41367296	A	T	SLC25A15	c.-67A>T	NM_014252.4	NP_055067.1:p.?	NC_000013.10:g.41367296A>T	(Likely) benign	1 lab	90df07b448
2:216184445 ATIC A>G	2	216184445	216184445	A	G	ATIC	c.281A>G	NM_004044.7	NP_004035.2:p.(Asn94Ser)	NC_000002.11:g.216184445A>G	(Likely) benign	1 lab	90df3b7a91
4:5710149 EVC2 A>G	4	5710149	5710149	A	G	EVC2	c.92T>C	NM_147127.5	NP_667338.3:p.(Leu31Pro)	NC_000004.11:g.5710149A>G	(Likely) benign	1 lab	90e02a724b
18:42531592 SETBP1 TC>T	18	42531592	42531594	TC	T	SETBP1	c.2289del	NM_015559.3	NP_056374.2:p.(Asn764ThrfsTer20)	NC_000018.9:g.42531594del	(Likely) pathogenic	1 lab	90e08918d4
18:50936819 DCC C>T	18	50936819	50936819	C	T	DCC	c.2936-3C>T	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50936819C>T	VUS	1 lab	90e0d42171
1:241920611 WDR64 G>A	1	241920611	241920611	G	A	WDR64	c.1797G>A	NM_001367482.1	NP_001354411.1:p.(Met599Ile)	NC_000001.10:g.241920611G>A	VUS	1 lab	90e19705de
15:89414706 ACAN G>A	15	89414706	89414706	G	A	ACAN	c.7154G>A	NM_001369268.1	NP_001356197.1:p.(Arg2385Gln)	NC_000015.9:g.89414706G>A	(Likely) benign	1 lab	90e21f8ac5
4:15512892 CC2D2A C>T	4	15512892	15512892	C	T	CC2D2A	c.563C>T	NM_001378615.1	NP_001365544.1:p.(Ala188Val)	NC_000004.11:g.15512892C>T	(Likely) benign	1 lab	90e28389c4
10:17085903 CUBN C>G	10	17085903	17085903	C	G	CUBN	c.3752G>C	NM_001081.3	NP_001072.2:p.(Ser1251Thr)	NC_000010.10:g.17085903C>G	(Likely) benign	1 lab	27403ef93e
5:137217786 MYOT G>A	5	137217786	137217786	G	A	MYOT	c.808G>A	NM_006790.3	NP_006781.1:p.(Asp270Asn)	NC_000005.9:g.137217786G>A	VUS	1 lab	90e34a1260
X:153541038 TKTL1 C>T	X	153541038	153541038	C	T	TKTL1	c.778C>T	NM_012253.4	NP_036385.3:p.(Pro260Ser)	NC_000023.10:g.153541038C>T	VUS	1 lab	90e3961111
18:50961514 DCC G>A	18	50961514	50961514	G	A	DCC	c.3164G>A	NM_005215.4	NP_005206.2:p.(Gly1055Asp)	NC_000018.9:g.50961514G>A	VUS	1 lab	90e3ce858e
11:73814438 C2CD3 G>C	11	73814438	73814438	G	C	C2CD3	c.2318C>G	NM_001286577.2	NP_001273506.1:p.(Pro773Arg)	NC_000011.9:g.73814438G>C	(Likely) benign	1 lab	90e3f9a2cf
15:89386656 ACAN G>A	15	89386656	89386656	G	A	ACAN	c.828G>A	NM_001369268.1	NP_001356197.1:p.(Leu276=)	NC_000015.9:g.89386656G>A	(Likely) benign	1 lab	90e41c942a
9:135947034 CEL GCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC>G	9	135947034	135947081	GCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC	G	CEL	c.2160_2192del	NM_001807.6	NP_001798.3:p.(Gly721_Ser731del)	NC_000009.11:g.135947049_135947081del	(Likely) benign	1 lab	90e56ed846
3:47164473 SETD2 ACTACTG>A	3	47164473	47164479	ACTACTG	A	SETD2	c.1647_1652del	NM_014159.7	NP_054878.5:p.(Ser550_Ser551del)	NC_000003.11:g.47164474_47164479del	VUS	1 lab	90e6e5add8
1:152280710 FLG C>T	1	152280710	152280710	C	T	FLG	c.6652G>A	NM_002016.2	NP_002007.1:p.(Asp2218Asn)	NC_000001.10:g.152280710C>T	(Likely) benign	1 lab	90e7dd461c
14:52534877 NID2 C>T	14	52534877	52534877	C	T	NID2	c.233G>A	NM_007361.4	NP_031387.3:p.(Gly78Asp)	NC_000014.8:g.52534877C>T	(Likely) benign	1 lab	90e96744d3
19:3525909 FZR1 T>C	19	3525909	3525909	T	C	FZR1	c.113T>C	NM_016263.4	NP_057347.2:p.(Val38Ala)	NC_000019.9:g.3525909T>C	(Likely) benign	1 lab	90e9e8e9f8
4:42068602 SLC30A9 A>C	4	42068602	42068602	A	C	SLC30A9	c.1108A>C	NM_006345.4	NP_006336.3:p.(Asn370His)	NC_000004.11:g.42068602A>C	VUS	1 lab	90eab1b3b0
14:100706015 YY1 A>T	14	100706015	100706015	A	T	YY1	c.434A>T	NM_003403.5	NP_003394.1:p.(Tyr145Phe)	NC_000014.8:g.100706015A>T	(Likely) benign	1 lab	90ebb0a47c
X:100655692 GLA A>C	X	100655692	100655692	A	C	GLA	c.601T>G	NM_000169.3	NP_000160.1:p.(Ser201Ala)	NC_000023.10:g.100655692A>C	(Likely) benign	1 lab	90ec8a83f9
8:100844596 VPS13B G>T	8	100844596	100844596	G	T	VPS13B	c.9331-1G>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100844596G>T	(Likely) benign	1 lab	90ed8e3292
1:168074135 GPR161 G>A	1	168074135	168074135	G	A	GPR161	c.-44-3C>T	NM_001375883.1	NP_001362812.1:p.?	NC_000001.10:g.168074135G>A	(Likely) benign	1 lab	90ef76c67f
7:104746072 KMT2E TC>T	7	104746072	104746073	TC	T	KMT2E	c.2384del	NM_182931.3	NP_891847.1:p.(Ser795TyrfsTer26)	NC_000007.13:g.104746073del	(Likely) pathogenic	1 lab	90f0558f31
2:71748019 DYSF T>C	2	71748019	71748019	T	C	DYSF	c.1134T>C	NM_001130987.2	NP_001124459.1:p.(Pro378=)	NC_000002.11:g.71748019T>C	(Likely) benign	1 lab	90f0679d73
9:713047 KANK1 G>A	9	713047	713047	G	A	KANK1	c.2281G>A	NM_015158.5	NP_055973.2:p.(Val761Met)	NC_000009.11:g.713047G>A	VUS	1 lab	90f52fc531
6:45390414 RUNX2 CGCAACAGCAGCA>C	6	45390414	45390441	CGCAACAGCAGCA	C	RUNX2	c.159_170del	NM_001024630.4	NP_001019801.3:p.(Gln68_Gln71del)	NC_000006.11:g.45390430_45390441del	VUS	1 lab	90f5ecf211
13:111156562 COL4A2 C>T	13	111156562	111156562	C	T	COL4A2	c.4353C>T	NM_001846.4	NP_001837.2:p.(Phe1451=)	NC_000013.10:g.111156562C>T	(Likely) benign	1 lab	90f64c830a
15:72146865 MYO9A G>A	15	72146865	72146865	G	A	MYO9A	c.6199C>T	NM_006901.4	NP_008832.2:p.(Arg2067Cys)	NC_000015.9:g.72146865G>A	VUS	1 lab	90f7331115
14:36155806 RALGAPA1 T>A	14	36155806	36155806	T	A	RALGAPA1	c.4019A>T	NM_001346249.2	NP_001333178.1:p.(Asn1340Ile)	NC_000014.8:g.36155806T>A	VUS	1 lab	90f8f18018
10:79745881 POLR3A T>C	10	79745881	79745881	T	C	POLR3A	c.2938A>G	NM_007055.4	NP_008986.2:p.(Ile980Val)	NC_000010.10:g.79745881T>C	(Likely) benign	1 lab	90f9355192
16:16248851 ABCC6 G>A	16	16248851	16248851	G	A	ABCC6	c.3920C>T	NM_001171.6	NP_001162.5:p.(Ser1307Phe)	NC_000016.9:g.16248851G>A	VUS	1 lab	90f9426dae
19:4817288 TICAM1 A>AAGGAGG	19	4817288	4817312	A	AAGGAGG	TICAM1	c.1096_1101dup	NM_182919.4	NP_891549.1:p.(Pro366_Pro367dup)	NC_000019.9:g.4817307_4817312dup	VUS	1 lab	90fa2c186a
17:41835962 SOST G>C	17	41835962	41835962	G	C	SOST	c.148C>G	NM_025237.3	NP_079513.1:p.(Leu50Val)	NC_000017.10:g.41835962G>C	(Likely) benign	1 lab	90fd898d75
20:18529262 SEC23B C>T	20	18529262	18529262	C	T	SEC23B	c.1753C>T	NM_006363.6	NP_006354.2:p.(His585Tyr)	NC_000020.10:g.18529262C>T	VUS	1 lab	90ff48abd0
6:30671312 MDC1 A>C	6	30671312	30671312	A	C	MDC1	c.5565T>G	NM_014641.3	NP_055456.2:p.(Asp1855Glu)	NC_000006.11:g.30671312A>C	(Likely) benign	1 lab	90ff727291
7:154379688 DPP6 G>A	7	154379688	154379688	G	A	DPP6	c.628-49843G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154379688G>A	(Likely) benign	1 lab	91001f5d85
1:23357125 KDM1A C>T	1	23357125	23357125	C	T	KDM1A	c.515C>T	NM_001009999.3	NP_001009999.1:p.(Ser172Leu)	NC_000001.10:g.23357125C>T	VUS	1 lab	91015a793d
3:39174656 TTC21A C>T	3	39174656	39174656	C	T	TTC21A	c.2676C>T	NM_001366900.1	NP_001353829.1:p.(Tyr892=)	NC_000003.11:g.39174656C>T	(Likely) benign	1 lab	910187ec27
7:44187318 GCK TCGC>T	7	44187318	44187323	TCGC	T	GCK	c.791_793del	NM_000162.5	NP_000153.1:p.(Gly264del)	NC_000007.13:g.44187321_44187323del	(Likely) pathogenic	1 lab	9101982955
5:89914954 ADGRV1 A>G	5	89914954	89914954	A	G	ADGRV1	c.409A>G	NM_032119.4	NP_115495.3:p.(Ile137Val)	NC_000005.9:g.89914954A>G	VUS	1 lab	25d61953ae
11:22272354 ANO5 G>A	11	22272354	22272354	G	A	ANO5	c.1081G>A	NM_213599.3	NP_998764.1:p.(Asp361Asn)	NC_000011.9:g.22272354G>A	VUS	1 lab	9125ab91b8
16:2143990 PKD1 C>T	16	2143990	2143990	C	T	PKD1	c.10643G>A	NM_001009944.3	NP_001009944.3:p.(Arg3548His)	NC_000016.9:g.2143990C>T	(Likely) benign	1 lab	9105d9fba9
1:241797967 CHML C>T	1	241797967	241797967	C	T	CHML	c.1102G>A	NM_001381853.1	NP_001368782.1:p.(Gly368Arg)	NC_000001.10:g.241797967C>T	VUS	1 lab	9105eeed93
1:120839851 FAM72B T>C	1	120839851	120839851	T	C	FAM72B	c.18T>C	NM_001100910.2	NP_001094380.1:p.(Cys6=)	NC_000001.10:g.120839851T>C	VUS	1 lab	91066b7563
12:49361973 WNT10B C>T	12	49361973	49361973	C	T	WNT10B	c.467G>A	NM_003394.4	NP_003385.2:p.(Arg156Gln)	NC_000012.11:g.49361973C>T	(Likely) benign	1 lab	9106bcf448
17:12903593 ELAC2 T>C	17	12903593	12903593	T	C	ELAC2	c.1305-2A>G	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12903593T>C	(Likely) pathogenic	1 lab	9109532a23
16:15761267 NDE1 C>T	16	15761267	15761267	C	T	NDE1	c.208C>T	NM_017668.3	NP_060138.1:p.(Arg70Cys)	NC_000016.9:g.15761267C>T	VUS	1 lab	910a1e4999
7:31013771 GHRHR G>T	7	31013771	31013771	G	T	GHRHR	c.751+18G>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013771G>T	(Likely) benign	1 lab	910a328c33
8:96281363 CFAP418 G>C	8	96281363	96281363	G	C	CFAP418	c.55C>G	NM_177965.4	NP_808880.1:p.(Pro19Ala)	NC_000008.10:g.96281363G>C	(Likely) benign	1 lab	910da27280
22:21072975 PI4KA A>G	22	21072975	21072975	A	G	PI4KA	c.5246+6T>C	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21072975A>G	(Likely) benign	1 lab	910ee619e6
X:110925461 ALG13 C>T	X	110925461	110925461	C	T	ALG13	c.183C>T	NM_001099922.3	NP_001093392.1:p.(Tyr61=)	NC_000023.10:g.110925461C>T	(Likely) benign	1 lab	910f11c21d
2:179526471 TTN A>G	2	179526471	179526471	A	G	TTN	c.37285+15T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179526471A>G	(Likely) benign	1 lab	9115c330ca
13:77669743 MYCBP2 G>A	13	77669743	77669743	G	A	MYCBP2	c.9955-6C>T	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77669743G>A	(Likely) benign	1 lab	9116154657
12:102869485 IGF1 C>T	12	102869485	102869485	C	T	IGF1	c.156G>A	NM_000618.5	NP_000609.1:p.(Thr52=)	NC_000012.11:g.102869485C>T	(Likely) benign	1 lab	911767f52f
3:48289146 ZNF589 G>A	3	48289146	48289146	G	A	ZNF589	c.75G>A	NM_016089.3	NP_057173.2:p.(Trp25Ter)	NC_000003.11:g.48289146G>A	(Likely) benign	1 lab	9119a6ff7d
6:51612861 PKHD1 C>T	6	51612861	51612861	C	T	PKHD1	c.9553G>A	NM_138694.4	NP_619639.3:p.(Val3185Ile)	NC_000006.11:g.51612861C>T	VUS	1 lab	9119f4af83
2:179517613 TTN A>G	2	179517613	179517613	A	G	TTN	c.38921T>C	NM_001267550.2	NP_001254479.2:p.(Leu12974Ser)	NC_000002.11:g.179517613A>G	VUS	1 lab	911a7e0fe5
1:167038261 GPA33 C>T	1	167038261	167038261	C	T	GPA33	c.313G>A	NM_005814.3	NP_005805.1:p.(Asp105Asn)	NC_000001.10:g.167038261C>T	(Likely) benign	1 lab	911cf10b67
5:168149315 SLIT3 C>T	5	168149315	168149315	C	T	SLIT3	c.2429G>A	NM_003062.3	NP_003053.1:p.(Arg810Gln)	NC_000005.9:g.168149315C>T	(Likely) benign	1 lab	2745b4e657
9:98268797 PTCH1 T>G	9	98268797	98268797	T	G	PTCH1	c.286A>C	NM_000264.5	NP_000255.2:p.(Lys96Gln)	NC_000009.11:g.98268797T>G	VUS	1 lab	9120ec32af
10:114910863 TCF7L2 G>A	10	114910863	114910863	G	A	TCF7L2	c.982G>A	NM_001367943.1	NP_001354872.1:p.(Val328Ile)	NC_000010.10:g.114910863G>A	(Likely) benign	1 lab	91224e2a97
13:31531048 TEX26 G>A	13	31531048	31531048	G	A	TEX26	c.351G>A	NM_152325.3	NP_689538.1:p.(Thr117=)	NC_000013.10:g.31531048G>A	(Likely) benign	1 lab	9123fcb5d9
13:25486855 CPAP T>G	13	25486855	25486855	T	G	CPAP	c.309A>C	NM_018451.5	NP_060921.3:p.(Lys103Asn)	NC_000013.10:g.25486855T>G	(Likely) benign	1 lab	9129088b63
3:108348031 DZIP3 A>C	3	108348031	108348031	A	C	DZIP3	c.696+8A>C	NM_014648.4	NP_055463.1:p.?	NC_000003.11:g.108348031A>C	(Likely) benign	1 lab	912cb3571b
X:54823469 ITIH6 C>T	X	54823469	54823469	C	T	ITIH6	c.163G>A	NM_198510.3	NP_940912.1:p.(Val55Ile)	NC_000023.10:g.54823469C>T	VUS	1 lab	91304d9540
3:13361262 NUP210 C>T	3	13361262	13361262	C	T	NUP210	c.5383+1G>A	NM_024923.4	NP_079199.2:p.?	NC_000003.11:g.13361262C>T	VUS	1 lab	91305b0330
2:121742161 GLI2 C>T	2	121742161	121742161	C	T	GLI2	c.1747C>T	NM_001374353.1	NP_001361282.1:p.(Arg583Cys)	NC_000002.11:g.121742161C>T	(Likely) benign	1 lab	9130c0179e
16:1811219 MAPK8IP3 CCA>C	16	1811219	1811223	CCA	C	MAPK8IP3	c.1458-3_1458-2del	NM_001318852.2	NP_001305781.1:p.?	NC_000016.9:g.1811222_1811223del	(Likely) benign	1 lab	9132d19d39
11:1467014 BRSK2 C>T	11	1467014	1467014	C	T	BRSK2	c.1103C>T	NM_001256627.2	NP_001243556.1:p.(Pro368Leu)	NC_000011.9:g.1467014C>T	VUS	1 lab	9133103a16
6:26156725 H1-4 C>G	6	26156725	26156725	C	G	H1-4	c.107C>G	NM_005321.3	NP_005312.1:p.(Ser36Cys)	NC_000006.11:g.26156725C>G	VUS	1 lab	9133d7bbd1
20:6012657 CRLS1 G>T	20	6012657	6012657	G	T	CRLS1	c.661-1G>T	NM_019095.6	NP_061968.1:p.?	NC_000020.10:g.6012657G>T	VUS	1 lab	9134376468
12:103246615 PAH T>C	12	103246615	103246615	T	C	PAH	c.820A>G	NM_000277.3	NP_000268.1:p.(Lys274Glu)	NC_000012.11:g.103246615T>C	(Likely) benign	1 lab	913510a382
8:21984940 HR C>A	8	21984940	21984940	C	A	HR	c.1015G>T	NM_005144.5	NP_005135.2:p.(Gly339Cys)	NC_000008.10:g.21984940C>A	VUS	1 lab	913518f3a4
7:91855832 KRIT1 T>A	7	91855832	91855832	T	A	KRIT1	c.1146+8A>T	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91855832T>A	(Likely) benign	1 lab	9135efd181
7:147183010 CNTNAP2 G>GTC	7	147183010	147183021	G	GTC	CNTNAP2	c.1671-7_1671-6dup	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147183020_147183021dup	VUS	1 lab	91379e6687
6:152570385 SYNE1 C>T	6	152570385	152570385	C	T	SYNE1	c.19483G>A	NM_182961.4	NP_892006.3:p.(Val6495Met)	NC_000006.11:g.152570385C>T	(Likely) benign	1 lab	9137c5085b
19:10273422 DNMT1 G>A	19	10273422	10273422	G	A	DNMT1	c.929C>T	NM_001130823.3	NP_001124295.1:p.(Ala310Val)	NC_000019.9:g.10273422G>A	(Likely) benign	1 lab	9137e7fc94
17:49079110 SPAG9 G>T	17	49079110	49079110	G	T	SPAG9	c.1573C>A	NM_001130528.3	NP_001124000.1:p.(Leu525Ile)	NC_000017.10:g.49079110G>T	VUS	1 lab	9138b332cf
8:144997611 PLEC T>G	8	144997611	144997611	T	G	PLEC	c.6486A>C	NM_201384.3	NP_958786.1:p.(Ala2162=)	NC_000008.10:g.144997611T>G	(Likely) benign	1 lab	91391fdecd
19:1106393 GPX4 C>G	19	1106393	1106393	C	G	GPX4	c.502-6C>G	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1106393C>G	VUS	1 lab	913a9540ca
13:39600408 PROSER1 G>A	13	39600408	39600408	G	A	PROSER1	c.480+6C>T	NM_025138.5	NP_079414.3:p.?	NC_000013.10:g.39600408G>A	(Likely) benign	1 lab	913b151cc6
16:2564306 ATP6V0C G>T	16	2564306	2564306	G	T	ATP6V0C	c.79+123G>T	NM_001694.4	NP_001685.1:p.?	NC_000016.9:g.2564306G>T	(Likely) benign	1 lab	913b4857d9
9:3828361 GLIS3 G>A	9	3828361	3828361	G	A	GLIS3	c.2704C>T	NM_001042413.2	NP_001035878.1:p.(Arg902Cys)	NC_000009.11:g.3828361G>A	(Likely) benign	1 lab	913cab471d
2:47357359 STPG4 G>A	2	47357359	47357359	G	A	STPG4	c.440C>T	NM_001163561.2	NP_001157033.1:p.(Ala147Val)	NC_000002.11:g.47357359G>A	(Likely) benign	1 lab	913e8353de
19:7174666 INSR C>T	19	7174666	7174666	C	T	INSR	c.1051G>A	NM_000208.4	NP_000199.2:p.(Val351Met)	NC_000019.9:g.7174666C>T	(Likely) benign	1 lab	913f39173d
16:2134521 TSC2 C>G	16	2134521	2134521	C	G	TSC2	c.4298C>G	NM_000548.5	NP_000539.2:p.(Ser1433Trp)	NC_000016.9:g.2134521C>G	(Likely) benign	1 lab	913faae402
3:128853002 ISY1 C>A	3	128853002	128853002	C	A	ISY1	c.578G>T	NM_020701.4	NP_065752.1:p.(Arg193Ile)	NC_000003.11:g.128853002C>A	(Likely) benign	1 lab	91404a048c
16:2150466 PKD1 T>A	16	2150466	2150466	T	A	PKD1	c.9499A>T	NM_001009944.3	NP_001009944.3:p.(Ile3167Phe)	NC_000016.9:g.2150466T>A	VUS	1 lab	9140c55165
13:28494457 PDX1 G>GC	13	28494457	28494463	G	GC	PDX1	c.188dup	NM_000209.4	NP_000200.1:p.(Asp64GlyfsTer161)	NC_000013.10:g.28494463dup	(Likely) pathogenic	1 lab	9140cb0dce
16:88786914 PIEZO1 C>T	16	88786914	88786914	C	T	PIEZO1	c.5828G>A	NM_001142864.4	NP_001136336.2:p.(Arg1943Gln)	NC_000016.9:g.88786914C>T	(Likely) benign	1 lab	9140cc285f
5:45262531 HCN1 G>A	5	45262531	45262531	G	A	HCN1	c.2165C>T	NM_021072.4	NP_066550.2:p.(Pro722Leu)	NC_000005.9:g.45262531G>A	(Likely) benign	1 lab	914148081b
19:7125392 INSR C>T	19	7125392	7125392	C	T	INSR	c.3160G>A	NM_000208.4	NP_000199.2:p.(Val1054Met)	NC_000019.9:g.7125392C>T	VUS	1 lab	9141849a24
1:19546149 EMC1 CGT>C	1	19546149	19546153	CGT	C	EMC1	c.2714_2715del	NM_015047.3	NP_055862.1:p.(His905ArgfsTer8)	NC_000001.10:g.19546152_19546153del	VUS	1 lab	9141924cc5
9:134014749 NUP214 A>G	9	134014749	134014749	A	G	NUP214	c.1087A>G	NM_005085.4	NP_005076.3:p.(Met363Val)	NC_000009.11:g.134014749A>G	VUS	1 lab	9141e769fb
19:3637533 PIP5K1C C>G	19	3637533	3637533	C	G	PIP5K1C	c.1920+1349G>C	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3637533C>G	VUS	1 lab	9143d1f520
9:100616585 FOXE1 A>G	9	100616585	100616585	A	G	FOXE1	c.389A>G	NM_004473.4	NP_004464.2:p.(Asp130Gly)	NC_000009.11:g.100616585A>G	(Likely) pathogenic	1 lab	9145146fbe
19:42840498 MEGF8 G>A	19	42840498	42840498	G	A	MEGF8	c.1244G>A	NM_001410.3	NP_001401.2:p.(Arg415Gln)	NC_000019.9:g.42840498G>A	VUS	1 lab	25dbb8e54b
7:44189576 GCK G>A	7	44189576	44189576	G	A	GCK	c.571C>T	NM_000162.5	NP_000153.1:p.(Arg191Trp)	NC_000007.13:g.44189576G>A	(Likely) pathogenic	1 lab	91471a25ec
3:169482781 TERC AC>A	3	169482781	169482782	AC	A	TERC	n.67del	NR_001566.1		NC_000003.11:g.169482782del	(Likely) pathogenic	1 lab	25deff3e2c
11:62284415 AHNAK A>G	11	62284415	62284415	A	G	AHNAK	c.17474T>C	NM_001620.3	NP_001611.1:p.(Phe5825Ser)	NC_000011.9:g.62284415A>G	VUS	1 lab	91483ac884
1:27124130 PIGV C>T	1	27124130	27124130	C	T	PIGV	c.1277C>T	NM_017837.4	NP_060307.2:p.(Pro426Leu)	NC_000001.10:g.27124130C>T	(Likely) benign	1 lab	914845c433
18:31323277 ASXL3 G>A	18	31323277	31323277	G	A	ASXL3	c.3465G>A	NM_030632.3	NP_085135.1:p.(Ser1155=)	NC_000018.9:g.31323277G>A	(Likely) benign	1 lab	914887e7a3
19:11686070 ACP5 G>A	19	11686070	11686070	G	A	ACP5	c.736-3C>T	NM_001611.5	NP_001602.1:p.?	NC_000019.9:g.11686070G>A	VUS	1 lab	914b563cc6
X:153881621 CTAG2 T>C	X	153881621	153881621	T	C	CTAG2	c.169A>G	NM_172377.5	NP_758965.2:p.(Arg57Gly)	NC_000023.10:g.153881621T>C	VUS	1 lab	914cb03c82
3:178916624 PIK3CA G>C	3	178916624	178916624	G	C	PIK3CA	c.11G>C	NM_006218.4	NP_006209.2:p.(Arg4Pro)	NC_000003.11:g.178916624G>C	VUS	1 lab	914d02e88d
4:6303452 WFS1 G>A	4	6303452	6303452	G	A	WFS1	c.1930G>A	NM_006005.3	NP_005996.2:p.(Val644Met)	NC_000004.11:g.6303452G>A	VUS	1 lab	915084f424
4:41648767 LIMCH1 G>A	4	41648767	41648767	G	A	LIMCH1	c.2677G>A	NM_001330672.2	NP_001317601.1:p.(Ala893Thr)	NC_000004.11:g.41648767G>A	(Likely) benign	1 lab	915150189f
11:17483332 ABCC8 G>A	11	17483332	17483332	G	A	ABCC8	c.620C>T	NM_000352.6	NP_000343.2:p.(Pro207Leu)	NC_000011.9:g.17483332G>A	VUS	1 lab	9152b427b5
10:50040737 WDFY4 C>T	10	50040737	50040737	C	T	WDFY4	c.6646C>T	NM_001394531.1	NP_001381460.1:p.(Pro2216Ser)	NC_000010.10:g.50040737C>T	VUS	1 lab	9152c119ae
9:138675908 KCNT1 C>G	9	138675908	138675908	C	G	KCNT1	c.2880C>G	NM_020822.3	NP_065873.2:p.(Phe960Leu)	NC_000009.11:g.138675908C>G	VUS	1 lab	915347d413
7:129691167 ZC3HC1 C>T	7	129691167	129691167	C	T	ZC3HC1	c.40G>A	NM_016478.5	NP_057562.3:p.(Val14Ile)	NC_000007.13:g.129691167C>T	VUS	1 lab	9155a7a11e
15:73028195 BBS4 C>T	15	73028195	73028195	C	T	BBS4	c.1136C>T	NM_033028.5	NP_149017.2:p.(Ala379Val)	NC_000015.9:g.73028195C>T	(Likely) benign	1 lab	9155e85b91
16:22320266 POLR3E C>T	16	22320266	22320266	C	T	POLR3E	c.186C>T	NM_018119.4	NP_060589.1:p.(Ile62=)	NC_000016.9:g.22320266C>T	VUS	1 lab	91586df548
11:125488373 STT3A A>G	11	125488373	125488373	A	G	STT3A	c.1880A>G	NM_152713.5	NP_689926.1:p.(Asp627Gly)	NC_000011.9:g.125488373A>G	VUS	1 lab	91589da455
9:140665332 EHMT1 C>CT	9	140665332	140665334	C	CT	EHMT1	c.1648-4227dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140665334dup	(Likely) benign	1 lab	9159dc214d
5:14394242 TRIO A>G	5	14394242	14394242	A	G	TRIO	c.4311+3A>G	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14394242A>G	(Likely) benign	1 lab	9159e0cfcc
5:42718598 GHR A>T	5	42718598	42718598	A	T	GHR	c.989A>T	NM_000163.5	NP_000154.1:p.(Asp330Val)	NC_000005.9:g.42718598A>T	(Likely) benign	1 lab	915bfc10ca
15:90320118 MESP2 CGG>C	15	90320118	90320120	CGG	C	MESP2	c.531_532del	NM_001039958.2	NP_001035047.1:p.(Glu178GlyfsTer188)	NC_000015.9:g.90320119_90320120del	VUS	1 lab	915d34319e
16:51175655 SALL1 CGCTGCT>C	16	51175655	51175685	CGCTGCT	C	SALL1	c.472_477del	NM_002968.3	NP_002959.2:p.(Ser158_Ser159del)	NC_000016.9:g.51175680_51175685del	VUS	1 lab	915dbd16e0
20:2636231 NOP56 T>C	20	2636231	2636231	T	C	NOP56	c.758-10T>C	NM_006392.4	NP_006383.2:p.?	NC_000020.10:g.2636231T>C	(Likely) benign	1 lab	915e3dfa11
22:37471311 TMPRSS6 G>A	22	37471311	37471311	G	A	TMPRSS6	c.1206C>T	NM_001374504.1	NP_001361433.1:p.(Gly402=)	NC_000022.10:g.37471311G>A	(Likely) benign	1 lab	915f4a76d8
X:100608875 BTK G>T	X	100608875	100608875	G	T	BTK	c.1733C>A	NM_000061.2	NP_000052.1:p.(Ser578Tyr)	NC_000023.10:g.100608875G>T	(Likely) pathogenic	1 lab	27613ac9ef
21:44837466 SIK1 G>A	21	44837466	44837466	G	A	SIK1	c.1933C>T	NM_173354.5	NP_775490.2:p.(Arg645Trp)	NC_000021.8:g.44837466G>A	VUS	1 lab	91633269ce
1:17285215 CROCC C>T	1	17285215	17285215	C	T	CROCC	c.4002C>T	NM_014675.5	NP_055490.4:p.(Gly1334=)	NC_000001.10:g.17285215C>T	VUS	1 lab	91633bd4ec
22:41574152 EP300 C>A	22	41574152	41574152	C	A	EP300	c.6437C>A	NM_001429.4	NP_001420.2:p.(Pro2146His)	NC_000022.10:g.41574152C>A	VUS	1 lab	91646b6d1d
6:87953243 ZNF292 A>T	6	87953243	87953243	A	T	ZNF292	c.792A>T	NM_015021.3	NP_055836.1:p.(Glu264Asp)	NC_000006.11:g.87953243A>T	VUS	1 lab	916558353f
4:80905989 ANTXR2 G>C	4	80905989	80905989	G	C	ANTXR2	c.1070C>G	NM_058172.6	NP_477520.2:p.(Ala357Gly)	NC_000004.11:g.80905989G>C	(Likely) benign	1 lab	91656b9a55
15:48741006 FBN1 T>C	15	48741006	48741006	T	C	FBN1	c.5630A>G	NM_000138.5	NP_000129.3:p.(His1877Arg)	NC_000015.9:g.48741006T>C	VUS	1 lab	9166b4c1a2
16:72821151 ZFHX3 G>A	16	72821151	72821151	G	A	ZFHX3	c.11024C>T	NM_006885.4	NP_008816.3:p.(Pro3675Leu)	NC_000016.9:g.72821151G>A	VUS	1 lab	9167063cc1
19:9868503 ZNF846 GT>G	19	9868503	9868504	GT	G	ZNF846	c.1249del	NM_001077624.3	NP_001071092.1:p.(Thr417LeufsTer25)	NC_000019.9:g.9868504del	VUS	1 lab	91671cb401
19:38974087 RYR1 G>A	19	38974087	38974087	G	A	RYR1	c.4865G>A	NM_000540.3	NP_000531.2:p.(Arg1622Gln)	NC_000019.9:g.38974087G>A	VUS	1 lab	9167649eed
4:6303160 WFS1 C>G	4	6303160	6303160	C	G	WFS1	c.1638C>G	NM_006005.3	NP_005996.2:p.(Val546=)	NC_000004.11:g.6303160C>G	(Likely) benign	1 lab	91692bb61c
11:73677302 DNAJB13 G>C	11	73677302	73677302	G	C	DNAJB13	c.606+6G>C	NM_153614.4	NP_705842.2:p.?	NC_000011.9:g.73677302G>C	VUS	1 lab	91695828c0
19:50985502 EMC10 G>T	19	50985502	50985502	G	T	EMC10	c.775G>T	NM_206538.4	NP_996261.1:p.(Gly259Cys)	NC_000019.9:g.50985502G>T	VUS	1 lab	916a02fef1
6:151773141 RMND1 A>C	6	151773141	151773141	A	C	RMND1	c.-15+10T>G	NM_017909.4	NP_060379.2:p.?	NC_000006.11:g.151773141A>C	VUS	1 lab	916a42ff91
15:53905853 WDR72 ACTCTCTTAC>A	15	53905853	53905863	ACTCTCTTAC	A	WDR72	c.2872+1_2872+9del	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.53905855_53905863del	VUS	1 lab	916aa6516a
3:9782522 BRPF1 T>TGCACA	3	9782522	9782529	T	TGCACA	BRPF1	c.1622_1626dup	NM_001003694.2	NP_001003694.1:p.(Tyr543ThrfsTer6)	NC_000003.11:g.9782525_9782529dup	VUS	1 lab	916bf30b5b
7:50571755 DDC C>A	7	50571755	50571755	C	A	DDC	c.717G>T	NM_001082971.2	NP_001076440.2:p.(Met239Ile)	NC_000007.13:g.50571755C>A	(Likely) benign	1 lab	916cd266fe
15:78786378 IREB2 C>T	15	78786378	78786378	C	T	IREB2	c.2452C>T	NM_004136.4	NP_004127.2:p.(His818Tyr)	NC_000015.9:g.78786378C>T	VUS	1 lab	916ef78f76
15:75656939 MAN2C1 C>T	15	75656939	75656939	C	T	MAN2C1	c.490G>A	NM_006715.4	NP_006706.2:p.(Ala164Thr)	NC_000015.9:g.75656939C>T	VUS	1 lab	91827b39d7
21:43531731 UMODL1 C>T	21	43531731	43531731	C	T	UMODL1	c.2015C>T	NM_001004416.3	NP_001004416.3:p.(Thr672Met)	NC_000021.8:g.43531731C>T	(Likely) benign	1 lab	91731b71dd
19:56127007 ZNF865 G>A	19	56127007	56127007	G	A	ZNF865	c.2023G>A	NM_001195605.2	NP_001182534.1:p.(Gly675Ser)	NC_000019.9:g.56127007G>A	VUS	1 lab	9174323b13
8:99152322 POP1 A>C	8	99152322	99152322	A	C	POP1	c.1379A>C	NM_001145860.2	NP_001139332.1:p.(Glu460Ala)	NC_000008.10:g.99152322A>C	(Likely) benign	1 lab	9174c9ec94
9:124089692 GSN C>T	9	124089692	124089692	C	T	GSN	c.1694C>T	NM_198252.3	NP_937895.1:p.(Thr565Met)	NC_000009.11:g.124089692C>T	(Likely) benign	1 lab	9174d39dd4
12:49239534 DDX23 C>T	12	49239534	49239534	C	T	DDX23	c.32G>A	NM_004818.3	NP_004809.2:p.(Arg11His)	NC_000012.11:g.49239534C>T	(Likely) benign	1 lab	9178c3a101
1:16355613 CLCNKA C>T	1	16355613	16355613	C	T	CLCNKA	c.1054-8C>T	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16355613C>T	(Likely) benign	1 lab	9179f8bc2c
X:53610705 HUWE1 G>A	X	53610705	53610705	G	A	HUWE1	c.5333C>T	NM_031407.7	NP_113584.3:p.(Thr1778Ile)	NC_000023.10:g.53610705G>A	VUS	1 lab	917a2883fc
11:46890609 LRP4 G>C	11	46890609	46890609	G	C	LRP4	c.4767C>G	NM_002334.4	NP_002325.2:p.(Asn1589Lys)	NC_000011.9:g.46890609G>C	VUS	1 lab	917a97d5b2
10:27306721 ANKRD26 T>A	10	27306721	27306721	T	A	ANKRD26	c.4216A>T	NM_014915.3	NP_055730.2:p.(Ile1406Phe)	NC_000010.10:g.27306721T>A	VUS	1 lab	917b564e34
7:151216581 RHEB G>A	7	151216581	151216581	G	A	RHEB	c.17C>T	NM_005614.4	NP_005605.1:p.(Ser6Phe)	NC_000007.13:g.151216581G>A	(Likely) benign	1 lab	917d6887be
2:179416409 TTN G>A	2	179416409	179416409	G	A	TTN	c.64398C>T	NM_133432.3	NP_597676.3:p.(Gly21466=)	NC_000002.11:g.179416409G>A	(Likely) benign	1 lab	276d285e6f
X:13797961 GPM6B TCTG>T	X	13797961	13797966	TCTG	T	GPM6B	c.670_672del	NM_001001995.3	NP_001001995.1:p.(Gln224del)	NC_000023.10:g.13797964_13797966del	VUS	1 lab	917e5e01b2
16:72993731 ZFHX3 G>A	16	72993731	72993731	G	A	ZFHX3	c.314C>T	NM_006885.4	NP_008816.3:p.(Pro105Leu)	NC_000016.9:g.72993731G>A	VUS	1 lab	917e99b2b5
11:46921004 LRP4 T>A	11	46921004	46921004	T	A	LRP4	c.481A>T	NM_002334.4	NP_002325.2:p.(Ile161Phe)	NC_000011.9:g.46921004T>A	VUS	1 lab	918fe519c0
10:73553218 CDH23 T>A	10	73553218	73553218	T	A	CDH23	c.6533T>A	NM_022124.6	NP_071407.4:p.(Ile2178Asn)	NC_000010.10:g.73553218T>A	VUS	1 lab	9183692681
11:76922365 MYO7A C>A	11	76922365	76922365	C	A	MYO7A	c.6220C>A	NM_000260.4	NP_000251.3:p.(Pro2074Thr)	NC_000011.9:g.76922365C>A	VUS	1 lab	9184d0f389
6:43485105 POLR1C G>A	6	43485105	43485105	G	A	POLR1C	c.131G>A	NM_203290.4	NP_976035.1:p.(Arg44His)	NC_000006.11:g.43485105G>A	VUS	1 lab	91859b7c0e
9:101909965 TGFBR1 T>C	9	101909965	101909965	T	C	TGFBR1	c.1285T>C	NM_004612.4	NP_004603.1:p.(Tyr429His)	NC_000009.11:g.101909965T>C	VUS	1 lab	9188a184de
17:44171966 KANSL1 C>T	17	44171966	44171966	C	T	KANSL1	c.1391G>A	NM_015443.4	NP_056258.1:p.(Arg464His)	NC_000017.10:g.44171966C>T	VUS	1 lab	9188b82cae
7:44192978 GCK C>T	7	44192978	44192978	C	T	GCK	c.130G>A	NM_000162.5	NP_000153.1:p.(Gly44Ser)	NC_000007.13:g.44192978C>T	(Likely) pathogenic	1 lab	9188e4a4e0
4:84374915 HELQ T>C	4	84374915	84374915	T	C	HELQ	c.481A>G	NM_133636.5	NP_598375.3:p.(Thr161Ala)	NC_000004.11:g.84374915T>C	VUS	1 lab	918add6b1b
17:36065012 HNF1B C>T	17	36065012	36065012	C	T	HNF1B	c.1251G>A	NM_000458.4	NP_000449.1:p.(Thr417=)	NC_000017.10:g.36065012C>T	(Likely) benign	1 lab	918c24e2d5
17:61995207 GH1 G>A	17	61995207	61995207	G	A	GH1	c.369C>T	NM_000515.5	NP_000506.2:p.(Phe123=)	NC_000017.10:g.61995207G>A	(Likely) benign	1 lab	918c827468
11:67926305 KMT5B G>A	11	67926305	67926305	G	A	KMT5B	c.1508C>T	NM_017635.5	NP_060105.3:p.(Ala503Val)	NC_000011.9:g.67926305G>A	VUS	1 lab	918e423e29
2:152566961 NEB T>C	2	152566961	152566961	T	C	NEB	c.914A>G	NM_001164508.2	NP_001157980.2:p.(Asp305Gly)	NC_000002.11:g.152566961T>C	VUS	1 lab	918eec05b7
11:108129809 ATM A>G	11	108129809	108129809	A	G	ATM	c.2466+7A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129809A>G	(Likely) benign	1 lab	918f735ee8
18:72997848 TSHZ1 CTG>C	18	72997848	72997850	CTG	C	TSHZ1	c.487_488del	NM_001308210.2	NP_001295139.1:p.(Cys163ProfsTer56)	NC_000018.9:g.72997849_72997850del	(Likely) benign	1 lab	919036a29b
1:147086280 BCL9 CGAT>C	1	147086280	147086285	CGAT	C	BCL9	c.428_430del	NM_004326.4	NP_004317.2:p.(Met143del)	NC_000001.10:g.147086283_147086285del	VUS	1 lab	9190457166
16:1544271 TELO2 C>A	16	1544271	1544271	C	A	TELO2	c.-12C>A	NM_016111.4	NP_057195.2:p.?	NC_000016.9:g.1544271C>A	VUS	1 lab	9190e7f9d4
2:109371665 RANBP2 G>A	2	109371665	109371665	G	A	RANBP2	c.2416G>A	NM_006267.5	NP_006258.3:p.(Asp806Asn)	NC_000002.11:g.109371665G>A	VUS	1 lab	9190eb420e
9:139910011 ABCA2 C>T	9	139910011	139910011	C	T	ABCA2	c.3552G>A	NM_001606.5	NP_001597.2:p.(Glu1184=)	NC_000009.11:g.139910011C>T	(Likely) benign	1 lab	91948ec1d5
5:9136729 SEMA5A A>T	5	9136729	9136729	A	T	SEMA5A	c.1486T>A	NM_003966.3	NP_003957.2:p.(Cys496Ser)	NC_000005.9:g.9136729A>T	VUS	1 lab	91a6cd0e07
2:54873389 SPTBN1 G>A	2	54873389	54873389	G	A	SPTBN1	c.4643G>A	NM_003128.3	NP_003119.2:p.(Ser1548Asn)	NC_000002.11:g.54873389G>A	VUS	1 lab	919b35a285
8:145007351 PLEC A>T	8	145007351	145007351	A	T	PLEC	c.1418+14T>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145007351A>T	(Likely) benign	1 lab	919d081c33
6:170176736 ERMARD G>C	6	170176736	170176736	G	C	ERMARD	c.1706G>C	NM_018341.3	NP_060811.1:p.(Arg569Pro)	NC_000006.11:g.170176736G>C	VUS	1 lab	919d1e9030
13:25671941 PABPC3 A>C	13	25671941	25671941	A	C	PABPC3	c.1605A>C	NM_030979.3	NP_112241.2:p.(Gln535His)	NC_000013.10:g.25671941A>C	VUS	1 lab	919e5f7c52
2:171716319 GAD1 C>G	2	171716319	171716319	C	G	GAD1	c.1712C>G	NM_000817.3	NP_000808.2:p.(Ser571Cys)	NC_000002.11:g.171716319C>G	VUS	1 lab	919f39b633
1:9097990 SLC2A5 T>C	1	9097990	9097990	T	C	SLC2A5	c.1268A>G	NM_003039.3	NP_003030.1:p.(Asn423Ser)	NC_000001.10:g.9097990T>C	VUS	1 lab	919f553b21
8:100844602 VPS13B TCG>T	8	100844602	100844604	TCG	T	VPS13B	c.9337_9338del	NM_152564.5	NP_689777.3:p.(Arg3113CysfsTer8)	NC_000008.10:g.100844603_100844604del	VUS	1 lab	919f79b58e
7:129944402 CPA4 C>A	7	129944402	129944402	C	A	CPA4	c.469C>A	NM_016352.4	NP_057436.2:p.(Pro157Thr)	NC_000007.13:g.129944402C>A	(Likely) benign	1 lab	91a155b654
9:711277 KANK1 A>G	9	711277	711277	A	G	KANK1	c.511A>G	NM_015158.5	NP_055973.2:p.(Thr171Ala)	NC_000009.11:g.711277A>G	(Likely) benign	1 lab	91a247ff02
3:12421391 PPARG G>A	3	12421391	12421391	G	A	PPARG	c.181G>A	NM_138711.6	NP_619725.3:p.(Ala61Thr)	NC_000003.11:g.12421391G>A	(Likely) benign	1 lab	91a2eab8f6
18:47566647 MYO5B A>G	18	47566647	47566647	A	G	MYO5B	c.176T>C	NM_001080467.3	NP_001073936.1:p.(Leu59Pro)	NC_000018.9:g.47566647A>G	(Likely) benign	1 lab	91a47e643b
22:41533667 EP300 A>G	22	41533667	41533667	A	G	EP300	c.1633A>G	NM_001429.4	NP_001420.2:p.(Ser545Gly)	NC_000022.10:g.41533667A>G	(Likely) benign	1 lab	91a5443b4c
5:13735418 DNAH5 G>T	5	13735418	13735418	G	T	DNAH5	c.11583C>A	NM_001369.3	NP_001360.1:p.(Ser3861Arg)	NC_000005.9:g.13735418G>T	VUS	1 lab	91a60f47ac
12:49426544 KMT2D G>A	12	49426544	49426544	G	A	KMT2D	c.11944C>T	NM_003482.4	NP_003473.3:p.(Arg3982Ter)	NC_000012.11:g.49426544G>A	(Likely) pathogenic	1 lab	91a6de0975
2:112614469 ANAPC1 TAATAA>T	2	112614469	112614481	TAATAA	T	ANAPC1	c.1359-11_1359-7del	NM_022662.4	NP_073153.1:p.?	NC_000002.11:g.112614477_112614481del	VUS	1 lab	91a784903d
22:50499957 MLC1 G>A	22	50499957	50499957	G	A	MLC1	c.*55C>T	NM_015166.4	NP_055981.1:p.?	NC_000022.10:g.50499957G>A	(Likely) benign	1 lab	91a92f2432
5:37154006 CPLANE1 C>T	5	37154006	37154006	C	T	CPLANE1	c.8209G>A	NM_001384732.1	NP_001371661.1:p.(Val2737Ile)	NC_000005.9:g.37154006C>T	VUS	1 lab	91a98ad035
2:130911931 SMPD4 G>T	2	130911931	130911931	G	T	SMPD4	c.1578C>A	NM_017951.5	NP_060421.3:p.(Phe526Leu)	NC_000002.11:g.130911931G>T	(Likely) benign	1 lab	91aa309e8c
7:100856231 PLOD3 G>A	7	100856231	100856231	G	A	PLOD3	c.778-7C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100856231G>A	VUS	1 lab	91aba74fb9
6:117248694 RFX6 C>T	6	117248694	117248694	C	T	RFX6	c.2390C>T	NM_173560.4	NP_775831.2:p.(Ser797Leu)	NC_000006.11:g.117248694C>T	(Likely) benign	1 lab	91ad2a1a0c
20:464679 CSNK2A1 C>T	20	464679	464679	C	T	CSNK2A1	c.1102G>A	NM_177559.3	NP_808227.1:p.(Ala368Thr)	NC_000020.10:g.464679C>T	VUS	1 lab	91ad5dbd56
2:179422705 TTN T>A	2	179422705	179422705	T	A	TTN	c.87376A>T	NM_001267550.2	NP_001254479.2:p.(Thr29126Ser)	NC_000002.11:g.179422705T>A	VUS	1 lab	91afbdcd67
17:18541693 TBC1D28 C>T	17	18541693	18541693	C	T	TBC1D28	c.320G>A	NM_001039397.3	NP_001034486.2:p.(Arg107Gln)	NC_000017.10:g.18541693C>T	(Likely) benign	1 lab	91b04e7cb1
19:39075629 RYR1 T>C	19	39075629	39075629	T	C	RYR1	c.14693T>C	NM_000540.3	NP_000531.2:p.(Ile4898Thr)	NC_000019.9:g.39075629T>C	VUS	1 lab	91b071a073
8:67726105 SGK3 C>T	8	67726105	67726105	C	T	SGK3	c.271C>T	NM_001033578.3	NP_001028750.1:p.(Arg91Ter)	NC_000008.10:g.67726105C>T	VUS	1 lab	91b0a149c2
19:7184575 INSR G>A	19	7184575	7184575	G	A	INSR	c.726C>T	NM_000208.4	NP_000199.2:p.(Asn242=)	NC_000019.9:g.7184575G>A	(Likely) benign	1 lab	91b1dc6f19
5:127637209 FBN2 G>C	5	127637209	127637209	G	C	FBN2	c.5918-7C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127637209G>C	(Likely) benign	1 lab	91b4091581
9:730049 KANK1 A>G	9	730049	730049	A	G	KANK1	c.2699-2A>G	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.730049A>G	VUS	1 lab	91b676c1bb
X:153588723 FLNA C>G	X	153588723	153588723	C	G	FLNA	c.3440G>C	NM_001110556.2	NP_001104026.1:p.(Gly1147Ala)	NC_000023.10:g.153588723C>G	VUS	1 lab	91b6e128df
X:149101934 EOLA2 A>C	X	149101934	149101934	A	C	EOLA2	c.159T>G	NM_001013845.2	NP_001013867.1:p.(Cys53Trp)	NC_000023.10:g.149101934A>C	(Likely) benign	1 lab	91b7e2e5c9
X:138711924 MCF2 T>A	X	138711924	138711924	T	A	MCF2	c.548A>T	NM_001171876.2	NP_001165347.1:p.(Glu183Val)	NC_000023.10:g.138711924T>A	VUS	1 lab	91b8572c3e
11:66109703 BRMS1 C>T	11	66109703	66109703	C	T	BRMS1	c.3G>A	NM_015399.4	NP_056214.1:p.(Met1?)	NC_000011.9:g.66109703C>T	VUS	1 lab	91ba396381
2:31571786 XDH A>G	2	31571786	31571786	A	G	XDH	c.3030T>C	NM_000379.4	NP_000370.2:p.(Phe1010=)	NC_000002.11:g.31571786A>G	(Likely) benign	1 lab	25dfeda4c6
17:7751858 KDM6B TCACCAC>T	17	7751858	7751891	TCACCAC	T	KDM6B	c.2280_2285del	NM_001348716.2	NP_001335645.1:p.(Thr761_Thr762del)	NC_000017.10:g.7751886_7751891del	(Likely) benign	1 lab	91bc9fe04c
2:113404662 SLC20A1 G>A	2	113404662	113404662	G	A	SLC20A1	c.257G>A	NM_005415.5	NP_005406.3:p.(Arg86Gln)	NC_000002.11:g.113404662G>A	VUS	1 lab	91bcc97c92
3:114069892 ZBTB20 C>G	3	114069892	114069892	C	G	ZBTB20	c.1033G>C	NM_001348800.3	NP_001335729.1:p.(Val345Leu)	NC_000003.11:g.114069892C>G	VUS	1 lab	91bce63135
22:50656194 TUBGCP6 T>A	22	50656194	50656194	T	A	TUBGCP6	c.5431A>T	NM_020461.4	NP_065194.3:p.(Asn1811Tyr)	NC_000022.10:g.50656194T>A	VUS	1 lab	91bd98a16f
12:12870989 CDKN1B C>T	12	12870989	12870989	C	T	CDKN1B	c.216C>T	NM_004064.5	NP_004055.1:p.(Gly72=)	NC_000012.11:g.12870989C>T	VUS	1 lab	91bf3175a2
5:151047030 SPARC G>A	5	151047030	151047030	G	A	SPARC	c.583C>T	NM_003118.4	NP_003109.1:p.(Arg195Trp)	NC_000005.9:g.151047030G>A	VUS	1 lab	91bf41dab5
4:159603552 ETFDH C>T	4	159603552	159603552	C	T	ETFDH	c.381C>T	NM_004453.4	NP_004444.2:p.(Leu127=)	NC_000004.11:g.159603552C>T	(Likely) benign	1 lab	91c022cdc9
8:42128899 IKBKB G>C	8	42128899	42128899	G	C	IKBKB	c.-107G>C	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42128899G>C	(Likely) benign	1 lab	91c050cb00
1:196227623 KCNT2 G>A	1	196227623	196227623	G	A	KCNT2	c.2912C>T	NM_198503.5	NP_940905.2:p.(Ser971Phe)	NC_000001.10:g.196227623G>A	(Likely) benign	1 lab	91c0ef33db
15:25620677 UBE3A C>T	15	25620677	25620677	C	T	UBE3A	c.296G>A	NM_130839.5	NP_570854.1:p.(Gly99Asp)	NC_000015.9:g.25620677C>T	(Likely) benign	1 lab	91c3435ce2
2:211081106 ACADL A>T	2	211081106	211081106	A	T	ACADL	c.501T>A	NM_001608.4	NP_001599.1:p.(Ile167=)	NC_000002.11:g.211081106A>T	VUS	1 lab	91c421b0e8
6:52876944 CILK1 T>C	6	52876944	52876944	T	C	CILK1	c.1234A>G	NM_014920.5	NP_055735.1:p.(Thr412Ala)	NC_000006.11:g.52876944T>C	(Likely) benign	1 lab	91c4556eee
2:48027368 MSH6 G>C	2	48027368	48027368	G	C	MSH6	c.2246G>C	NM_000179.3	NP_000170.1:p.(Gly749Ala)	NC_000002.11:g.48027368G>C	VUS	1 lab	91c7fcb073
X:66766154 AR T>G	X	66766154	66766154	T	G	AR	c.1166T>G	NM_000044.6	NP_000035.2:p.(Leu389Arg)	NC_000023.10:g.66766154T>G	VUS	1 lab	91c8e5bc3f
19:13319694 CACNA1A T>G	19	13319694	13319694	T	G	CACNA1A	c.6656A>C	NM_001127222.2	NP_001120694.1:p.(His2219Pro)	NC_000019.9:g.13319694T>G	(Likely) benign	1 lab	91ca28348b
9:94486825 ROR2 T>C	9	94486825	94486825	T	C	ROR2	c.1951A>G	NM_004560.4	NP_004551.2:p.(Asn651Asp)	NC_000009.11:g.94486825T>C	(Likely) benign	1 lab	91ca92d4ad
7:44185219 GCK C>G	7	44185219	44185219	C	G	GCK	c.1130G>C	NM_000162.5	NP_000153.1:p.(Arg377Pro)	NC_000007.13:g.44185219C>G	(Likely) pathogenic	1 lab	91caed2806
X:153592698 FLNA C>T	X	153592698	153592698	C	T	FLNA	c.2065G>A	NM_001456.3	NP_001447.2:p.(Val689Ile)	NC_000023.10:g.153592698C>T	(Likely) benign	1 lab	2779ebd0a4
11:117299255 DSCAML1 G>T	11	117299255	117299255	G	T	DSCAML1	c.5951C>A	NM_020693.4	NP_065744.3:p.(Ala1984Asp)	NC_000011.9:g.117299255G>T	(Likely) benign	1 lab	91cec16632
16:31422622 ITGAD T>G	16	31422622	31422622	T	G	ITGAD	c.1498-7T>G	NM_005353.3	NP_005344.2:p.?	NC_000016.9:g.31422622T>G	(Likely) benign	1 lab	91cf0575f1
17:44159857 KANSL1 A>C	17	44159857	44159857	A	C	KANSL1	c.1483T>G	NM_015443.4	NP_056258.1:p.(Phe495Val)	NC_000017.10:g.44159857A>C	(Likely) benign	1 lab	91cf9e6d2b
15:34077962 RYR3 G>A	15	34077962	34077962	G	A	RYR3	c.9368G>A	NM_001036.6	NP_001027.3:p.(Arg3123Gln)	NC_000015.9:g.34077962G>A	(Likely) benign	1 lab	91d09c7832
3:100432706 TFG A>G	3	100432706	100432706	A	G	TFG	c.177A>G	NM_006070.6	NP_006061.2:p.(Lys59=)	NC_000003.11:g.100432706A>G	(Likely) benign	1 lab	2779f0572b
18:60497460 PHLPP1 GA>G	18	60497460	60497464	GA	G	PHLPP1	c.1773del	NM_194449.4	NP_919431.2:p.(Val592Ter)	NC_000018.9:g.60497464del	VUS	1 lab	91d0f9e0de
6:132649152 MOXD1 C>A	6	132649152	132649152	C	A	MOXD1	c.946G>T	NM_015529.4	NP_056344.2:p.(Gly316Cys)	NC_000006.11:g.132649152C>A	VUS	1 lab	91d2b54cca
3:55504452 WNT5A C>G	3	55504452	55504452	C	G	WNT5A	c.811G>C	NM_003392.7	NP_003383.4:p.(Asp271His)	NC_000003.11:g.55504452C>G	VUS	1 lab	91d34c6d02
19:13428120 CACNA1A C>T	19	13428120	13428120	C	T	CACNA1A	c.1361G>A	NM_001127222.2	NP_001120694.1:p.(Arg454Gln)	NC_000019.9:g.13428120C>T	VUS	1 lab	91d45659db
X:37029199 FAM47C A>G	X	37029199	37029199	A	G	FAM47C	c.2716A>G	NM_001013736.3	NP_001013758.1:p.(Met906Val)	NC_000023.10:g.37029199A>G	VUS	1 lab	91d67e7e4b
19:19218779 SLC25A42 C>T	19	19218779	19218779	C	T	SLC25A42	c.574C>T	NM_178526.5	NP_848621.2:p.(Pro192Ser)	NC_000019.9:g.19218779C>T	VUS	1 lab	91dc9079ed
X:100105140 NOX1 C>T	X	100105140	100105140	C	T	NOX1	c.1133G>A	NM_007052.5	NP_008983.2:p.(Arg378Lys)	NC_000023.10:g.100105140C>T	(Likely) benign	1 lab	91defb50ec
5:150696419 SLC36A2 C>T	5	150696419	150696419	C	T	SLC36A2	c.1411G>A	NM_181776.3	NP_861441.2:p.(Asp471Asn)	NC_000005.9:g.150696419C>T	(Likely) benign	1 lab	91e0155944
8:38283739 FGFR1 T>C	8	38283739	38283739	T	C	FGFR1	c.646A>G	NM_023110.3	NP_075598.2:p.(Ile216Val)	NC_000008.10:g.38283739T>C	(Likely) benign	1 lab	91e08f78af
9:17366650 CNTLN T>G	9	17366650	17366650	T	G	CNTLN	c.1922T>G	NM_017738.4	NP_060208.2:p.(Val641Gly)	NC_000009.11:g.17366650T>G	VUS	1 lab	91e10180de
3:128706506 CFAP92 A>T	3	128706506	128706506	A	T	CFAP92	c.620T>A	NM_001394090.1	NP_001381019.1:p.(Leu207Ter)	NC_000003.11:g.128706506A>T	VUS	1 lab	91e16f84ee
5:156723747 CYFIP2 G>A	5	156723747	156723747	G	A	CYFIP2	c.352G>A	NM_001037333.3	NP_001032410.1:p.(Glu118Lys)	NC_000005.9:g.156723747G>A	VUS	1 lab	91e3047d5d
1:173822479 DARS2 G>C	1	173822479	173822479	G	C	DARS2	c.1345-8G>C	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173822479G>C	(Likely) benign	1 lab	91e57719f6
17:72832690 SLC38A12 C>T	17	72832690	72832690	C	T	SLC38A12	c.1355C>T	NM_017728.4	NP_060198.3:p.(Ala452Val)	NC_000017.10:g.72832690C>T	(Likely) benign	1 lab	2779f65b8c
19:618570 POLRMT T>TA	19	618570	618571	T	TA	POLRMT	c.3339dup	NM_005035.4	NP_005026.3:p.(Lys1114Ter)	NC_000019.9:g.618571dup	VUS	1 lab	91e896f288
15:89414614 ACAN C>T	15	89414614	89414614	C	T	ACAN	c.7062C>T	NM_001369268.1	NP_001356197.1:p.(Asp2354=)	NC_000015.9:g.89414614C>T	(Likely) benign	1 lab	91e90e2350
10:89474811 PAPSS2 G>A	10	89474811	89474811	G	A	PAPSS2	c.709G>A	NM_001015880.2	NP_001015880.1:p.(Val237Ile)	NC_000010.10:g.89474811G>A	(Likely) benign	1 lab	91ea084f6f
22:19171074 CLTCL1 C>CT	22	19171074	19171076	C	CT	CLTCL1	c.4655dup	NM_007098.4	NP_009029.3:p.(Leu1553ValfsTer23)	NC_000022.10:g.19171076dup	(Likely) benign	1 lab	91eae074d6
2:45640302 SRBD1 G>C	2	45640302	45640302	G	C	SRBD1	c.2464C>G	NM_018079.5	NP_060549.4:p.(Pro822Ala)	NC_000002.11:g.45640302G>C	(Likely) benign	1 lab	91efae36a3
5:6656185 SRD5A1 C>T	5	6656185	6656185	C	T	SRD5A1	c.461-6C>T	NM_001047.4	NP_001038.1:p.?	NC_000005.9:g.6656185C>T	(Likely) benign	1 lab	91f0a56e0d
2:215819958 ABCA12 A>G	2	215819958	215819958	A	G	ABCA12	c.6361T>C	NM_173076.3	NP_775099.2:p.(Tyr2121His)	NC_000002.11:g.215819958A>G	VUS	1 lab	91f13661d9
19:12978656 MAST1 C>G	19	12978656	12978656	C	G	MAST1	c.2431C>G	NM_014975.3	NP_055790.1:p.(Gln811Glu)	NC_000019.9:g.12978656C>G	(Likely) benign	1 lab	91f2ac7119
6:169053774 SMOC2 A>G	6	169053774	169053774	A	G	SMOC2	c.1151A>G	NM_001166412.2	NP_001159884.1:p.(Lys384Arg)	NC_000006.11:g.169053774A>G	(Likely) benign	1 lab	91f381d1d6
19:7174675 INSR T>G	19	7174675	7174675	T	G	INSR	c.1042A>C	NM_000208.4	NP_000199.2:p.(Ile348Leu)	NC_000019.9:g.7174675T>G	(Likely) benign	1 lab	91f3aa3afb
X:128884450 XPNPEP2 C>T	X	128884450	128884450	C	T	XPNPEP2	c.644C>T	NM_003399.6	NP_003390.4:p.(Thr215Ile)	NC_000023.10:g.128884450C>T	(Likely) benign	1 lab	91f3f15b9d
3:33059942 GLB1 C>T	3	33059942	33059942	C	T	GLB1	c.1345G>A	NM_000404.4	NP_000395.3:p.(Gly449Arg)	NC_000003.11:g.33059942C>T	VUS	1 lab	91f6118eed
11:134128483 ACAD8 T>C	11	134128483	134128483	T	C	ACAD8	c.455T>C	NM_014384.3	NP_055199.1:p.(Met152Thr)	NC_000011.9:g.134128483T>C	VUS	1 lab	25e46c6b51
8:131792983 ADCY8 A>G	8	131792983	131792983	A	G	ADCY8	c.3409T>C	NM_001115.3	NP_001106.1:p.(Tyr1137His)	NC_000008.10:g.131792983A>G	(Likely) benign	1 lab	91f991d6d5
21:44589397 CRYAA A>T	21	44589397	44589397	A	T	CRYAA	c.188A>T	NM_000394.4	NP_000385.1:p.(Glu63Val)	NC_000021.8:g.44589397A>T	VUS	1 lab	91fb4266b2
1:161128211 UFC1 T>C	1	161128211	161128211	T	C	UFC1	c.433T>C	NM_016406.4	NP_057490.2:p.(Trp145Arg)	NC_000001.10:g.161128211T>C	VUS	1 lab	91fbc9b96e
2:172569345 DYNC1I2 T>C	2	172569345	172569345	T	C	DYNC1I2	c.395+9T>C	NM_001378.3	NP_001369.1:p.?	NC_000002.11:g.172569345T>C	(Likely) benign	1 lab	91fbfdbeb0
11:65984207 PACS1 G>C	11	65984207	65984207	G	C	PACS1	c.939G>C	NM_018026.4	NP_060496.2:p.(Lys313Asn)	NC_000011.9:g.65984207G>C	(Likely) benign	1 lab	91fdac010d
12:2786915 CACNA1C T>G	12	2786915	2786915	T	G	CACNA1C	c.4973T>G	NM_000719.7	NP_000710.5:p.(Leu1658Arg)	NC_000012.11:g.2786915T>G	VUS	1 lab	91fe40097c
9:119109467 PAPPA C>T	9	119109467	119109467	C	T	PAPPA	c.3943C>T	NM_002581.5	NP_002572.2:p.(Arg1315Cys)	NC_000009.11:g.119109467C>T	VUS	1 lab	91fe9d954a
19:36336398 NPHS1 C>G	19	36336398	36336398	C	G	NPHS1	c.1802G>C	NM_004646.3	NP_004637.1:p.(Gly601Ala)	NC_000019.9:g.36336398C>G	(Likely) benign	1 lab	27876a8d5a
11:17438487 ABCC8 C>G	11	17438487	17438487	C	G	ABCC8	c.2245G>C	NM_000352.6	NP_000343.2:p.(Glu749Gln)	NC_000011.9:g.17438487C>G	VUS	1 lab	91ffaff2d6
2:219920197 IHH T>C	2	219920197	219920197	T	C	IHH	c.968A>G	NM_002181.4	NP_002172.2:p.(His323Arg)	NC_000002.11:g.219920197T>C	(Likely) benign	1 lab	920121feb9
16:4933875 PPL C>T	16	4933875	4933875	C	T	PPL	c.4781G>A	NM_002705.5	NP_002696.4:p.(Arg1594Gln)	NC_000016.9:g.4933875C>T	(Likely) benign	1 lab	92018a81af
10:94405299 KIF11 AAC>A	10	94405299	94405302	AAC	A	KIF11	c.2449_2450del	NM_004523.4	NP_004514.2:p.(Gln817GlufsTer3)	NC_000010.10:g.94405301_94405302del	(Likely) pathogenic	1 lab	9201f74b78
12:10531179 KLRK1 G>A	12	10531179	10531179	G	A	KLRK1	c.403C>T	NM_007360.4	NP_031386.2:p.(Leu135=)	NC_000012.11:g.10531179G>A	VUS	1 lab	920446f1c1
17:39973458 FKBP10 G>A	17	39973458	39973458	G	A	FKBP10	c.391+3G>A	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39973458G>A	VUS	1 lab	9204a94898
16:2159142 PKD1 GAGA>G	16	2159142	2159147	GAGA	G	PKD1	c.6023_6025del	NM_001009944.3	NP_001009944.3:p.(Phe2008del)	NC_000016.9:g.2159145_2159147del	VUS	1 lab	92050cddee
1:8420725 RERE G>A	1	8420725	8420725	G	A	RERE	c.2842C>T	NM_001042681.2	NP_001036146.1:p.(Pro948Ser)	NC_000001.10:g.8420725G>A	VUS	1 lab	92053e1bb8
X:3241664 MXRA5 G>T	X	3241664	3241664	G	T	MXRA5	c.2062C>A	NM_015419.4	NP_056234.2:p.(Leu688Ile)	NC_000023.10:g.3241664G>T	(Likely) benign	1 lab	9205893177
4:177713326 VEGFC T>A	4	177713326	177713326	T	A	VEGFC	c.140A>T	NM_005429.5	NP_005420.1:p.(Glu47Val)	NC_000004.11:g.177713326T>A	(Likely) benign	1 lab	9209636952
18:19751811 GATA6 G>C	18	19751811	19751811	G	C	GATA6	c.706G>C	NM_005257.6	NP_005248.2:p.(Gly236Arg)	NC_000018.9:g.19751811G>C	VUS	1 lab	920c93726b
9:73213590 TRPM3 T>C	9	73213590	73213590	T	C	TRPM3	c.2797-4A>G	NM_001366145.2	NP_001353074.1:p.?	NC_000009.11:g.73213590T>C	(Likely) benign	1 lab	920dff175e
2:47602376 EPCAM G>A	2	47602376	47602376	G	A	EPCAM	c.429G>A	NM_002354.3	NP_002345.2:p.(Trp143Ter)	NC_000002.11:g.47602376G>A	(Likely) pathogenic	1 lab	920ecb0d99
20:43042421 HNF4A C>T	20	43042421	43042421	C	T	HNF4A	c.473C>T	NM_000457.5	NP_000448.3:p.(Ala158Val)	NC_000020.10:g.43042421C>T	VUS	1 lab	9211920237
12:88465588 CEP290 T>C	12	88465588	88465588	T	C	CEP290	c.5825A>G	NM_025114.4	NP_079390.3:p.(Gln1942Arg)	NC_000012.11:g.88465588T>C	VUS	1 lab	9214f6abed
1:22158006 HSPG2 T>C	1	22158006	22158006	T	C	HSPG2	c.11402A>G	NM_005529.7	NP_005520.4:p.(Tyr3801Cys)	NC_000001.10:g.22158006T>C	(Likely) benign	1 lab	92161e6e84
X:102192965 RAB40AL C>G	X	102192965	102192965	C	G	RAB40AL	c.719C>G	NM_001031834.1	NP_001027004.1:p.(Ser240Cys)	NC_000023.10:g.102192965C>G	(Likely) benign	1 lab	92167d7c24
7:50607607 DDC C>G	7	50607607	50607607	C	G	DDC	c.315+6G>C	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50607607C>G	VUS	1 lab	92182fe0c4
10:135097433 TUBGCP2 CA>TG	10	135097433	135097434	CA	TG	TUBGCP2	c.2097_2098inv	NM_006659.4	NP_006650.1:p.(Glu700Lys)	NC_000010.10:g.135097433_135097434inv	VUS	1 lab	9218791c6c
7:155595770 SHH C>G	7	155595770	155595770	C	G	SHH	c.1213G>C	NM_000193.4	NP_000184.1:p.(Asp405His)	NC_000007.13:g.155595770C>G	VUS	1 lab	92198e4d9b
5:42718814 GHR A>T	5	42718814	42718814	A	T	GHR	c.1205A>T	NM_000163.5	NP_000154.1:p.(Asn402Ile)	NC_000005.9:g.42718814A>T	(Likely) benign	1 lab	921ae26f0e
19:41895752 EXOSC5 A>G	19	41895752	41895752	A	G	EXOSC5	c.443T>C	NM_020158.4	NP_064543.3:p.(Met148Thr)	NC_000019.9:g.41895752A>G	(Likely) pathogenic	1 lab	921b45950c
3:55508622 WNT5A C>A	3	55508622	55508622	C	A	WNT5A	c.427G>T	NM_003392.7	NP_003383.4:p.(Ala143Ser)	NC_000003.11:g.55508622C>A	VUS	1 lab	921c3a8148
1:154316918 ATP8B2 A>G	1	154316918	154316918	A	G	ATP8B2	c.2083A>G	NM_001370597.1	NP_001357526.1:p.(Met695Val)	NC_000001.10:g.154316918A>G	(Likely) benign	1 lab	921c7d49c5
X:12939407 TLR8 A>T	X	12939407	12939407	A	T	TLR8	c.2248A>T	NM_138636.5	NP_619542.1:p.(Thr750Ser)	NC_000023.10:g.12939407A>T	(Likely) benign	1 lab	921e8bbb7a
7:73442551 ELN G>A	7	73442551	73442551	G	A	ELN	c.34G>A	NM_000501.4	NP_000492.2:p.(Gly12Arg)	NC_000007.13:g.73442551G>A	(Likely) benign	1 lab	92204b0acb
12:14778799 GUCY2C C>T	12	14778799	14778799	C	T	GUCY2C	c.2300G>A	NM_004963.4	NP_004954.2:p.(Arg767His)	NC_000012.11:g.14778799C>T	VUS	1 lab	92217a9ab9
16:75138738 ZNRF1 C>T	16	75138738	75138738	C	T	ZNRF1	c.577C>T	NM_032268.5	NP_115644.1:p.(Gln193Ter)	NC_000016.9:g.75138738C>T	VUS	1 lab	9222776e43
2:1843143 MYT1L CTGTAGGCAGGCAGAGGTGACACACTTTAT>C	2	1843143	1843175	CTGTAGGCAGGCAGAGGTGACACACTTTAT	C	MYT1L	c.2859-30_2859-2del	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1843147_1843175del	(Likely) pathogenic	1 lab	9224b752ae
1:1459214 ATAD3A G>A	1	1459214	1459214	G	A	ATAD3A	c.964-5G>A	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1459214G>A	VUS	1 lab	9226527c3f
X:25031031 ARX G>A	X	25031031	25031031	G	A	ARX	c.1073+8C>T	NM_139058.3	NP_620689.1:p.?	NC_000023.10:g.25031031G>A	(Likely) benign	1 lab	92276a76af
12:106853135 POLR3B T>G	12	106853135	106853135	T	G	POLR3B	c.2559T>G	NM_018082.6	NP_060552.4:p.(Asp853Glu)	NC_000012.11:g.106853135T>G	(Likely) benign	1 lab	92280f400d
5:42695126 GHR A>T	5	42695126	42695126	A	T	GHR	c.374A>T	NM_000163.5	NP_000154.1:p.(Tyr125Phe)	NC_000005.9:g.42695126A>T	VUS	1 lab	9228bd8399
7:57188415 ZNF479 G>C	7	57188415	57188415	G	C	ZNF479	c.707C>G	NM_001370129.2	NP_001357058.1:p.(Thr236Ser)	NC_000007.13:g.57188415G>C	(Likely) benign	1 lab	92293b4b11
1:152284208 FLG T>C	1	152284208	152284208	T	C	FLG	c.3154A>G	NM_002016.2	NP_002007.1:p.(Arg1052Gly)	NC_000001.10:g.152284208T>C	(Likely) benign	1 lab	922ca8351b
7:27239651 HOXA13 C>T	7	27239651	27239651	C	T	HOXA13	c.46G>A	NM_000522.5	NP_000513.2:p.(Val16Ile)	NC_000007.13:g.27239651C>T	VUS	1 lab	922cb0d34a
22:24463092 CABIN1 C>T	22	24463092	24463092	C	T	CABIN1	c.2192C>T	NM_012295.4	NP_036427.1:p.(Thr731Ile)	NC_000022.10:g.24463092C>T	VUS	1 lab	922d3e52a6
X:129813618 ENOX2 C>T	X	129813618	129813618	C	T	ENOX2	c.358G>A	NM_006375.4	NP_006366.2:p.(Glu120Lys)	NC_000023.10:g.129813618C>T	VUS	1 lab	922ed86b5a
17:40726131 PSMC3IP C>T	17	40726131	40726131	C	T	PSMC3IP	c.323G>A	NM_016556.4	NP_057640.1:p.(Arg108His)	NC_000017.10:g.40726131C>T	(Likely) benign	1 lab	25e90d935c
6:51921513 PKHD1 C>T	6	51921513	51921513	C	T	PKHD1	c.1676G>A	NM_138694.4	NP_619639.3:p.(Arg559Gln)	NC_000006.11:g.51921513C>T	VUS	1 lab	9231b8d75d
14:81609609 TSHR G>A	14	81609609	81609609	G	A	TSHR	c.1207G>A	NM_000369.5	NP_000360.2:p.(Asp403Asn)	NC_000014.8:g.81609609G>A	VUS	1 lab	932b4c0916
1:176564156 PAPPA2 T>G	1	176564156	176564156	T	G	PAPPA2	c.1416T>G	NM_020318.3	NP_064714.2:p.(Asp472Glu)	NC_000001.10:g.176564156T>G	(Likely) benign	1 lab	9232881412
12:75441931 KCNC2 A>G	12	75441931	75441931	A	G	KCNC2	c.1780+2T>C	NM_139137.4	NP_631875.1:p.?	NC_000012.11:g.75441931A>G	VUS	1 lab	92328c0016
19:12766551 MAN2B1 A>C	19	12766551	12766551	A	C	MAN2B1	c.1787T>G	NM_000528.4	NP_000519.2:p.(Ile596Ser)	NC_000019.9:g.12766551A>C	VUS	1 lab	923309e4ca
6:137146412 PEX7 A>G	6	137146412	137146412	A	G	PEX7	c.188+3A>G	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137146412A>G	(Likely) benign	1 lab	9233e78470
12:52867138 KRT6C A>G	12	52867138	52867138	A	G	KRT6C	c.384T>C	NM_173086.5	NP_775109.2:p.(Pro128=)	NC_000012.11:g.52867138A>G	(Likely) benign	1 lab	25e96b1355
4:1807216 FGFR3 C>T	4	1807216	1807216	C	T	FGFR3	c.1534+13C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807216C>T	(Likely) benign	1 lab	92363a8a9c
8:97318687 PTDSS1 A>T	8	97318687	97318687	A	T	PTDSS1	c.910A>T	NM_014754.3	NP_055569.1:p.(Thr304Ser)	NC_000008.10:g.97318687A>T	VUS	1 lab	9236847699
16:9057112 USP7 T>TCTGCTG	16	9057112	9057133	T	TCTGCTG	USP7	c.25_30dup	NM_003470.3	NP_003461.2:p.(Gln9_Gln10dup)	NC_000016.9:g.9057128_9057133dup	(Likely) benign	1 lab	9237a083a4
8:21986548 HR G>C	8	21986548	21986548	G	C	HR	c.136C>G	NM_005144.5	NP_005135.2:p.(Pro46Ala)	NC_000008.10:g.21986548G>C	(Likely) benign	1 lab	923a9afd32
17:38512459 RARA C>T	17	38512459	38512459	C	T	RARA	c.1370C>T	NM_000964.4	NP_000955.1:p.(Pro457Leu)	NC_000017.10:g.38512459C>T	(Likely) benign	1 lab	923b85bd8b
5:98231950 CHD1 C>T	5	98231950	98231950	C	T	CHD1	c.1690G>A	NM_001270.4	NP_001261.2:p.(Asp564Asn)	NC_000005.9:g.98231950C>T	VUS	1 lab	923bcb51a6
X:18775869 PPEF1 A>G	X	18775869	18775869	A	G	PPEF1	c.511+10A>G	NM_001377996.1	NP_001364925.1:p.?	NC_000023.10:g.18775869A>G	(Likely) benign	1 lab	923c41d042
4:1206162 CTBP1 C>A	4	1206162	1206162	C	A	CTBP1	c.1156G>T	NM_001012614.2	NP_001012632.1:p.(Val386Leu)	NC_000004.11:g.1206162C>A	VUS	1 lab	923e24fe27
5:176026697 GPRIN1 G>A	5	176026697	176026697	G	A	GPRIN1	c.139C>T	NM_052899.3	NP_443131.2:p.(Pro47Ser)	NC_000005.9:g.176026697G>A	(Likely) benign	1 lab	923e27b27c
18:19751855 GATA6 C>A	18	19751855	19751855	C	A	GATA6	c.750C>A	NM_005257.6	NP_005248.2:p.(Gly250=)	NC_000018.9:g.19751855C>A	(Likely) benign	1 lab	923e3c3e84
7:101801841 CUX1 G>A	7	101801841	101801841	G	A	CUX1	c.676G>A	NM_181552.4	NP_853530.2:p.(Ala226Thr)	NC_000007.13:g.101801841G>A	(Likely) benign	1 lab	923e587a1e
1:237905620 RYR2 G>A	1	237905620	237905620	G	A	RYR2	c.11116G>A	NM_001035.3	NP_001026.2:p.(Asp3706Asn)	NC_000001.10:g.237905620G>A	VUS	1 lab	923eaf12cb
12:133240990 POLE T>C	12	133240990	133240990	T	C	POLE	c.2527A>G	NM_006231.4	NP_006222.2:p.(Ile843Val)	NC_000012.11:g.133240990T>C	VUS	1 lab	923ebe605a
5:176579320 NSD1 G>GTATA	5	176579320	176579322	G	GTATA	NSD1	c.927+16290_927+16291insATAT	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176579321_176579322insATAT	(Likely) benign	1 lab	92430eedea
12:21926629 KCNJ8 G>C	12	21926629	21926629	G	C	KCNJ8	c.-70-9C>G	NM_004982.4	NP_004973.1:p.?	NC_000012.11:g.21926629G>C	(Likely) benign	1 lab	9243fc0939
3:9985095 CRELD1 C>T	3	9985095	9985095	C	T	CRELD1	c.944C>T	NM_001077415.3	NP_001070883.2:p.(Pro315Leu)	NC_000003.11:g.9985095C>T	(Likely) benign	1 lab	924618cea8
12:7084470 EMG1 G>A	12	7084470	7084470	G	A	EMG1	c.551G>A	NM_006331.8	NP_006322.4:p.(Ser184Asn)	NC_000012.11:g.7084470G>A	VUS	1 lab	924998b1c2
22:45938162 FBLN1 C>T	22	45938162	45938162	C	T	FBLN1	c.1194C>T	NM_006486.3	NP_006477.3:p.(Val398=)	NC_000022.10:g.45938162C>T	(Likely) benign	1 lab	924a53c676
19:11348886 DOCK6 C>T	19	11348886	11348886	C	T	DOCK6	c.1738G>A	NM_020812.4	NP_065863.2:p.(Glu580Lys)	NC_000019.9:g.11348886C>T	VUS	1 lab	924cfb81bc
16:51174620 SALL1 G>A	16	51174620	51174620	G	A	SALL1	c.1513C>T	NM_002968.3	NP_002959.2:p.(His505Tyr)	NC_000016.9:g.51174620G>A	VUS	1 lab	924d96c77a
3:47618861 CSPG5 C>G	3	47618861	47618861	C	G	CSPG5	c.655G>C	NM_006574.4	NP_006565.2:p.(Glu219Gln)	NC_000003.11:g.47618861C>G	VUS	1 lab	924fc7c62c
16:85712136 GINS2 C>T	16	85712136	85712136	C	T	GINS2	c.432+10G>A	NM_016095.3	NP_057179.1:p.?	NC_000016.9:g.85712136C>T	(Likely) benign	1 lab	925117c04d
1:89735229 GBP5 C>G	1	89735229	89735229	C	G	GBP5	c.10G>C	NM_052942.5	NP_443174.1:p.(Glu4Gln)	NC_000001.10:g.89735229C>G	(Likely) benign	1 lab	92520ea730
9:12698485 TYRP1 A>G	9	12698485	12698485	A	G	TYRP1	c.743A>G	NM_000550.3	NP_000541.1:p.(Tyr248Cys)	NC_000009.11:g.12698485A>G	VUS	1 lab	9254d6b66f
X:30726164 GK C>T	X	30726164	30726164	C	T	GK	c.895-7C>T	NM_001205019.2	NP_001191948.1:p.?	NC_000023.10:g.30726164C>T	(Likely) benign	1 lab	92560e78b6
5:110784890 CAMK4 C>A	5	110784890	110784890	C	A	CAMK4	c.614C>A	NM_001744.6	NP_001735.1:p.(Pro205Gln)	NC_000005.9:g.110784890C>A	VUS	1 lab	9258de4dc9
10:50038849 WDFY4 C>A	10	50038849	50038849	C	A	WDFY4	c.6445C>A	NM_001394531.1	NP_001381460.1:p.(Pro2149Thr)	NC_000010.10:g.50038849C>A	(Likely) benign	1 lab	925a103824
15:28520043 HERC2 G>A	15	28520043	28520043	G	A	HERC2	c.643+8C>T	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28520043G>A	(Likely) benign	1 lab	925a199e5f
7:26766577 SKAP2 A>G	7	26766577	26766577	A	G	SKAP2	c.518T>C	NM_003930.5	NP_003921.2:p.(Met173Thr)	NC_000007.13:g.26766577A>G	VUS	1 lab	925b23c189
16:3304687 MEFV G>C	16	3304687	3304687	G	C	MEFV	c.381C>G	NM_000243.3	NP_000234.1:p.(Asn127Lys)	NC_000016.9:g.3304687G>C	VUS	1 lab	25ebf7408d
2:112755001 MERTK A>G	2	112755001	112755001	A	G	MERTK	c.1552A>G	NM_006343.3	NP_006334.2:p.(Ile518Val)	NC_000002.11:g.112755001A>G	(Likely) benign	1 lab	25ec5a4aa6
X:50350408 SHROOM4 G>A	X	50350408	50350408	G	A	SHROOM4	c.3734C>T	NM_020717.5	NP_065768.2:p.(Ser1245Leu)	NC_000023.10:g.50350408G>A	(Likely) benign	1 lab	92607774ca
3:71282313 FOXP1 A>C	3	71282313	71282313	A	C	FOXP1	c.-11-34770T>G	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71282313A>C	(Likely) benign	1 lab	92609d3944
4:6303671 WFS1 G>A	4	6303671	6303671	G	A	WFS1	c.2149G>A	NM_006005.3	NP_005996.2:p.(Glu717Lys)	NC_000004.11:g.6303671G>A	(Likely) pathogenic	1 lab	92621476a5
12:102158810 GNPTAB T>C	12	102158810	102158810	T	C	GNPTAB	c.1885A>G	NM_024312.5	NP_077288.2:p.(Ile629Val)	NC_000012.11:g.102158810T>C	VUS	1 lab	9262803a0f
2:1926088 MYT1L T>C	2	1926088	1926088	T	C	MYT1L	c.1453A>G	NM_001303052.2	NP_001289981.1:p.(Ser485Gly)	NC_000002.11:g.1926088T>C	(Likely) benign	1 lab	9263683fb5
16:597412 CAPN15 G>A	16	597412	597412	G	A	CAPN15	c.574G>A	NM_005632.3	NP_005623.1:p.(Gly192Ser)	NC_000016.9:g.597412G>A	VUS	1 lab	9263b1f59e
11:65310994 LTBP3 C>T	11	65310994	65310994	C	T	LTBP3	c.2380G>A	NM_001130144.3	NP_001123616.1:p.(Val794Met)	NC_000011.9:g.65310994C>T	VUS	1 lab	9264866015
9:95030529 IARS1 C>T	9	95030529	95030529	C	T	IARS1	c.1358G>A	NM_002161.6	NP_002152.2:p.(Arg453His)	NC_000009.11:g.95030529C>T	(Likely) benign	1 lab	9264cbc544
2:152342437 NEB C>T	2	152342437	152342437	C	T	NEB	c.25415G>A	NM_001164508.2	NP_001157980.2:p.(Arg8472His)	NC_000002.11:g.152342437C>T	(Likely) benign	1 lab	92650522ee
12:56559287 SMARCC2 C>G	12	56559287	56559287	C	G	SMARCC2	c.3047G>C	NM_001330288.2	NP_001317217.1:p.(Gly1016Ala)	NC_000012.11:g.56559287C>G	(Likely) benign	1 lab	926632387d
10:43610033 RET A>G	10	43610033	43610033	A	G	RET	c.1985A>G	NM_020975.6	NP_066124.1:p.(Lys662Arg)	NC_000010.10:g.43610033A>G	VUS	1 lab	926733ae4d
17:38975250 KRT10 A>G	17	38975250	38975250	A	G	KRT10	c.1537T>C	NM_000421.5	NP_000412.4:p.(Tyr513His)	NC_000017.10:g.38975250A>G	(Likely) benign	1 lab	9268b5a05a
1:3328441 PRDM16 C>T	1	3328441	3328441	C	T	PRDM16	c.1680C>T	NM_022114.4	NP_071397.3:p.(Ser560=)	NC_000001.10:g.3328441C>T	(Likely) benign	1 lab	25eee15038
15:51504630 CYP19A1 C>T	15	51504630	51504630	C	T	CYP19A1	c.1150G>A	NM_000103.4	NP_000094.2:p.(Asp384Asn)	NC_000015.9:g.51504630C>T	VUS	1 lab	926986c7d7
2:230652215 TRIP12 A>G	2	230652215	230652215	A	G	TRIP12	c.4995+6T>C	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230652215A>G	VUS	1 lab	926d130818
X:153691954 PLXNA3 A>T	X	153691954	153691954	A	T	PLXNA3	c.1468A>T	NM_017514.5	NP_059984.3:p.(Thr490Ser)	NC_000023.10:g.153691954A>T	(Likely) benign	1 lab	926d4d90b5
12:121426736 HNF1A C>A	12	121426736	121426736	C	A	HNF1A	c.427C>A	NM_000545.8	NP_000536.6:p.(His143Asn)	NC_000012.11:g.121426736C>A	(Likely) pathogenic	1 lab	926d77db80
17:80050409 FASN C>G	17	80050409	80050409	C	G	FASN	c.951G>C	NM_004104.5	NP_004095.4:p.(Gln317His)	NC_000017.10:g.80050409C>G	VUS	1 lab	926dd10413
17:79094438 AATK A>C	17	79094438	79094438	A	C	AATK	c.3298T>G	NM_001080395.3	NP_001073864.2:p.(Phe1100Val)	NC_000017.10:g.79094438A>C	(Likely) benign	1 lab	926e02883a
2:179600748 TTN C>T	2	179600748	179600748	C	T	TTN	c.14425G>A	NM_001267550.2	NP_001254479.2:p.(Gly4809Ser)	NC_000002.11:g.179600748C>T	(Likely) benign	1 lab	926f5b497c
X:32509447 DMD G>A	X	32509447	32509447	G	A	DMD	c.2569C>T	NM_004006.3	NP_003997.2:p.(Pro857Ser)	NC_000023.10:g.32509447G>A	VUS	1 lab	926fa4d035
7:6038761 PMS2 C>T	7	6038761	6038761	C	T	PMS2	c.683G>A	NM_000535.7	NP_000526.2:p.(Gly228Asp)	NC_000007.13:g.6038761C>T	VUS	1 lab	926fc377f4
1:145508005 RBM8A TG>T	1	145508005	145508009	TG	T	RBM8A	c.68-7del	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145508009del	(Likely) benign	1 lab	9272254bfc
16:2814234 SRRM2 TGAA>T	16	2814234	2814239	TGAA	T	SRRM2	c.3708_3710del	NM_016333.4	NP_057417.3:p.(Glu1237del)	NC_000016.9:g.2814237_2814239del	VUS	1 lab	9272bb2ba3
13:20763339 GJB2 T>C	13	20763339	20763339	T	C	GJB2	c.382A>G	NM_004004.6	NP_003995.2:p.(Ile128Val)	NC_000013.10:g.20763339T>C	VUS	1 lab	9276fdcefd
7:151846128 KMT2C A>G	7	151846128	151846128	A	G	KMT2C	c.12884T>C	NM_170606.3	NP_733751.2:p.(Leu4295Pro)	NC_000007.13:g.151846128A>G	VUS	1 lab	927a33ffa4
6:158353294 SNX9 T>G	6	158353294	158353294	T	G	SNX9	c.1356T>G	NM_016224.5	NP_057308.1:p.(Ser452Arg)	NC_000006.11:g.158353294T>G	VUS	1 lab	927ae49794
10:100503620 HPSE2 G>A	10	100503620	100503620	G	A	HPSE2	c.784+20C>T	NM_021828.4	NP_068600.4:p.?	NC_000010.10:g.100503620G>A	(Likely) benign	1 lab	278e1538b4
6:99893783 USP45 G>A	6	99893783	99893783	G	A	USP45	c.1865C>T	NM_001346022.3	NP_001332951.1:p.(Ser622Phe)	NC_000006.11:g.99893783G>A	VUS	1 lab	927e497ff0
7:70255360 AUTS2 G>GC	7	70255360	70255365	G	GC	AUTS2	c.3163dup	NM_015570.4	NP_056385.1:p.(Leu1055ProfsTer29)	NC_000007.13:g.70255365dup	(Likely) pathogenic	1 lab	927f29d387
9:131388878 SPTAN1 A>G	9	131388878	131388878	A	G	SPTAN1	c.6488A>G	NM_001130438.3	NP_001123910.1:p.(Lys2163Arg)	NC_000009.11:g.131388878A>G	(Likely) benign	1 lab	927fcec2a6
X:153178180 ARHGAP4 C>T	X	153178180	153178180	C	T	ARHGAP4	c.1516G>A	NM_001666.5	NP_001657.3:p.(Gly506Arg)	NC_000023.10:g.153178180C>T	VUS	1 lab	92803f3507
11:108160357 ATM T>C	11	108160357	108160357	T	C	ATM	c.4265T>C	NM_000051.4	NP_000042.3:p.(Ile1422Thr)	NC_000011.9:g.108160357T>C	VUS	1 lab	9280f540f6
11:47353380 MYBPC3 G>C	11	47353380	47353380	G	C	MYBPC3	c.*26+16C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353380G>C	(Likely) benign	1 lab	3730159b36
5:180047995 FLT4 G>A	5	180047995	180047995	G	A	FLT4	c.2180C>T	NM_182925.5	NP_891555.2:p.(Ala727Val)	NC_000005.9:g.180047995G>A	VUS	1 lab	928148f8fb
4:3129240 HTT G>A	4	3129240	3129240	G	A	HTT	c.1652G>A	NM_001388492.1	NP_001375421.1:p.(Gly551Glu)	NC_000004.11:g.3129240G>A	(Likely) benign	1 lab	92815039fa
2:176964834 HOXD12 C>A	2	176964834	176964834	C	A	HOXD12	c.305C>A	NM_021193.4	NP_067016.3:p.(Ala102Glu)	NC_000002.11:g.176964834C>A	(Likely) benign	1 lab	9284cbea69
X:153594530 FLNA C>G	X	153594530	153594530	C	G	FLNA	c.1291G>C	NM_001110556.2	NP_001104026.1:p.(Glu431Gln)	NC_000023.10:g.153594530C>G	VUS	1 lab	92856c3958
17:73612461 MYO15B C>CAGG	17	73612461	73612496	C	CAGG	MYO15B	c.6211_6213dup	NM_001395058.1	NP_001381987.1:p.(Glu2071dup)	NC_000017.10:g.73612494_73612496dup	(Likely) benign	1 lab	9287a0a841
5:14387543 TRIO G>A	5	14387543	14387543	G	A	TRIO	c.3571-4G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14387543G>A	(Likely) benign	1 lab	928804bc2a
14:20841193 TEP1 C>A	14	20841193	20841193	C	A	TEP1	c.6928G>T	NM_007110.5	NP_009041.2:p.(Ala2310Ser)	NC_000014.8:g.20841193C>A	(Likely) benign	1 lab	928853480c
1:205156545 DSTYK C>T	1	205156545	205156545	C	T	DSTYK	c.654+1G>A	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205156545C>T	VUS	1 lab	92899691cd
9:140610850 EHMT1 A>G	9	140610850	140610850	A	G	EHMT1	c.86-228A>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610850A>G	(Likely) benign	1 lab	928d908a5b
4:2831823 SH3BP2 C>G	4	2831823	2831823	C	G	SH3BP2	c.1190C>G	NM_001122681.2	NP_001116153.1:p.(Ala397Gly)	NC_000004.11:g.2831823C>G	(Likely) benign	1 lab	928ee5ae30
12:2270570 CACNA1C T>A	12	2270570	2270570	T	A	CACNA1C	c.477+40974T>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2270570T>A	(Likely) benign	1 lab	928f820f6e
10:78669709 KCNMA1 A>G	10	78669709	78669709	A	G	KCNMA1	c.2985+15T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78669709A>G	(Likely) benign	1 lab	3732e00a2d
4:87705644 PTPN13 A>G	4	87705644	87705644	A	G	PTPN13	c.6051A>G	NM_080683.3	NP_542414.1:p.(Ile2017Met)	NC_000004.11:g.87705644A>G	(Likely) benign	1 lab	9291b9d930
6:31828316 NEU1 C>T	6	31828316	31828316	C	T	NEU1	c.698G>A	NM_000434.4	NP_000425.1:p.(Ser233Asn)	NC_000006.11:g.31828316C>T	(Likely) pathogenic	1 lab	929365832f
4:6302690 WFS1 G>T	4	6302690	6302690	G	T	WFS1	c.1168G>T	NM_006005.3	NP_005996.2:p.(Val390Leu)	NC_000004.11:g.6302690G>T	VUS	1 lab	9293cf603c
5:176813499 SLC34A1 T>C	5	176813499	176813499	T	C	SLC34A1	c.464T>C	NM_003052.5	NP_003043.3:p.(Leu155Pro)	NC_000005.9:g.176813499T>C	(Likely) pathogenic	1 lab	92955a1254
9:98775372 ERCC6L2 A>G	9	98775372	98775372	A	G	ERCC6L2	c.4540A>G	NM_020207.7	NP_064592.3:p.(Arg1514Gly)	NC_000009.11:g.98775372A>G	VUS	1 lab	9295db3bb8
X:2773054 GYG2 G>A	X	2773054	2773054	G	A	GYG2	c.345G>A	NM_001079855.2	NP_001073324.1:p.(Glu115=)	NC_000023.10:g.2773054G>A	(Likely) benign	1 lab	92977a0037
15:99500499 IGF1R C>T	15	99500499	99500499	C	T	IGF1R	c.3932C>T	NM_000875.5	NP_000866.1:p.(Ser1311Leu)	NC_000015.9:g.99500499C>T	(Likely) benign	1 lab	929836a65c
X:49454089 PAGE1 C>T	X	49454089	49454089	C	T	PAGE1	c.350G>A	NM_003785.4	NP_003776.2:p.(Arg117His)	NC_000023.10:g.49454089C>T	VUS	1 lab	9299ab511e
1:151262329 ZNF687 C>G	1	151262329	151262329	C	G	ZNF687	c.2810C>G	NM_020832.3	NP_065883.1:p.(Pro937Arg)	NC_000001.10:g.151262329C>G	(Likely) pathogenic	1 lab	929acf9f8e
16:3790548 CREBBP G>A	16	3790548	3790548	G	A	CREBBP	c.3985C>T	NM_004380.3	NP_004371.2:p.(Leu1329=)	NC_000016.9:g.3790548G>A	(Likely) benign	1 lab	929cc9a48a
12:7053271 C12orf57 G>C	12	7053271	7053271	G	C	C12orf57	c.-14G>C	NM_138425.4	NP_612434.1:p.?	NC_000012.11:g.7053271G>C	VUS	1 lab	929d6fc523
12:58177029 TSFM A>G	12	58177029	58177029	A	G	TSFM	c.194A>G	NM_005726.6	NP_005717.3:p.(Lys65Arg)	NC_000012.11:g.58177029A>G	VUS	1 lab	92a0cdbfde
17:80858518 TBCD C>G	17	80858518	80858518	C	G	TBCD	c.1650-9C>G	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80858518C>G	VUS	1 lab	92a1df644c
X:24329889 SUPT20HL2 G>GCA	X	24329889	24329890	G	GCA	SUPT20HL2	c.1543_1544insTG	NM_001136233.3	NP_001129705.3:p.(Pro515LeufsTer4)	NC_000023.10:g.24329889_24329890insCA	(Likely) benign	1 lab	92a1e89c6c
15:64021476 HERC1 T>G	15	64021476	64021476	T	G	HERC1	c.3113A>C	NM_003922.4	NP_003913.3:p.(Lys1038Thr)	NC_000015.9:g.64021476T>G	(Likely) benign	1 lab	92a298dc1f
12:88502941 CEP290 T>A	12	88502941	88502941	T	A	CEP290	c.2385A>T	NM_025114.4	NP_079390.3:p.(Glu795Asp)	NC_000012.11:g.88502941T>A	VUS	1 lab	92a35ea9b2
12:120260625 CIT G>A	12	120260625	120260625	G	A	CIT	c.1110C>T	NM_001206999.2	NP_001193928.1:p.(Asn370=)	NC_000012.11:g.120260625G>A	(Likely) benign	1 lab	92a39e08d5
X:153593031 FLNA C>T	X	153593031	153593031	C	T	FLNA	c.1885G>A	NM_001110556.2	NP_001104026.1:p.(Gly629Ser)	NC_000023.10:g.153593031C>T	VUS	1 lab	92a3ae6ac1
7:158443340 NCAPG2 C>T	7	158443340	158443340	C	T	NCAPG2	c.3075+184G>A	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158443340C>T	(Likely) benign	1 lab	92a53a835a
19:35250690 ZNF599 T>C	19	35250690	35250690	T	C	ZNF599	c.1016A>G	NM_001007248.3	NP_001007249.1:p.(Tyr339Cys)	NC_000019.9:g.35250690T>C	(Likely) benign	1 lab	92a6cff14e
21:47545433 COL6A2 A>G	21	47545433	47545433	A	G	COL6A2	c.1871A>G	NM_001849.4	NP_001840.3:p.(Glu624Gly)	NC_000021.8:g.47545433A>G	VUS	1 lab	92a7d9c981
8:144994374 PLEC G>A	8	144994374	144994374	G	A	PLEC	c.9615C>T	NM_201384.3	NP_958786.1:p.(Thr3205=)	NC_000008.10:g.144994374G>A	(Likely) benign	1 lab	92ac8dd372
19:12089060 ZNF763 T>G	19	12089060	12089060	T	G	ZNF763	c.321T>G	NM_001367172.2	NP_001354101.1:p.(Asp107Glu)	NC_000019.9:g.12089060T>G	(Likely) benign	1 lab	92b0008231
6:166075440 PDE10A C>T	6	166075440	166075440	C	T	PDE10A	c.860G>A	NM_001385079.1	NP_001372008.1:p.(Ser287Asn)	NC_000006.11:g.166075440C>T	VUS	1 lab	92b19be2e6
12:49719436 TROAP G>T	12	49719436	49719436	G	T	TROAP	c.490G>T	NM_005480.4	NP_005471.3:p.(Val164Phe)	NC_000012.11:g.49719436G>T	(Likely) benign	1 lab	92b1d6595f
19:38931428 RYR1 A>T	19	38931428	38931428	A	T	RYR1	c.89A>T	NM_000540.3	NP_000531.2:p.(Glu30Val)	NC_000019.9:g.38931428A>T	VUS	1 lab	92b214d242
1:201063079 CACNA1S A>T	1	201063079	201063079	A	T	CACNA1S	c.329T>A	NM_000069.3	NP_000060.2:p.(Phe110Tyr)	NC_000001.10:g.201063079A>T	VUS	1 lab	92b4a47d40
6:152539510 SYNE1 G>A	6	152539510	152539510	G	A	SYNE1	c.22073C>T	NM_182961.4	NP_892006.3:p.(Ala7358Val)	NC_000006.11:g.152539510G>A	VUS	1 lab	92b5e3027a
17:73204634 NUP85 G>A	17	73204634	73204634	G	A	NUP85	c.46G>A	NM_024844.5	NP_079120.1:p.(Val16Met)	NC_000017.10:g.73204634G>A	(Likely) benign	1 lab	27913eeaa9
15:31220861 FAN1 T>C	15	31220861	31220861	T	C	FAN1	c.2592+2T>C	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31220861T>C	(Likely) pathogenic	1 lab	92b90bd6c8
3:136191327 STAG1 A>G	3	136191327	136191327	A	G	STAG1	c.1133T>C	NM_005862.3	NP_005853.2:p.(Ile378Thr)	NC_000003.11:g.136191327A>G	VUS	1 lab	92b9959c22
8:145699910 FOXH1 C>G	8	145699910	145699910	C	G	FOXH1	c.809G>C	NM_003923.3	NP_003914.1:p.(Arg270Thr)	NC_000008.10:g.145699910C>G	VUS	1 lab	92ba5615a3
3:142443521 TRPC1 G>A	3	142443521	142443521	G	A	TRPC1	c.120G>A	NM_001251845.2	NP_001238774.1:p.(Val40=)	NC_000003.11:g.142443521G>A	VUS	1 lab	92bb3394b0
2:203407042 BMPR2 G>A	2	203407042	203407042	G	A	BMPR2	c.1285G>A	NM_001204.7	NP_001195.2:p.(Val429Ile)	NC_000002.11:g.203407042G>A	(Likely) benign	1 lab	92bbd51502
15:34032055 RYR3 G>A	15	34032055	34032055	G	A	RYR3	c.7679G>A	NM_001036.6	NP_001027.3:p.(Arg2560Gln)	NC_000015.9:g.34032055G>A	(Likely) benign	1 lab	92bcadcfbd
14:77492351 IRF2BPL A>AC	14	77492351	77492357	A	AC	IRF2BPL	c.1784dup	NM_024496.4	NP_078772.1:p.(Pro596SerfsTer19)	NC_000014.8:g.77492357dup	(Likely) pathogenic	1 lab	92bf50a054
12:88484537 CEP290 C>A	12	88484537	88484537	C	A	CEP290	c.3541G>T	NM_025114.4	NP_079390.3:p.(Glu1181Ter)	NC_000012.11:g.88484537C>A	(Likely) pathogenic	1 lab	92c1c7fd73
1:28802695 PHACTR4 C>G	1	28802695	28802695	C	G	PHACTR4	c.1498C>G	NM_001048183.3	NP_001041648.1:p.(Pro500Ala)	NC_000001.10:g.28802695C>G	VUS	1 lab	92c29b3e1b
11:17450161 ABCC8 G>A	11	17450161	17450161	G	A	ABCC8	c.1874C>T	NM_000352.6	NP_000343.2:p.(Ala625Val)	NC_000011.9:g.17450161G>A	(Likely) benign	1 lab	92c3142c8c
17:60650661 TLK2 C>CA	17	60650661	60650662	C	CA	TLK2	c.1055dup	NM_006852.6	NP_006843.2:p.(Ala353GlyfsTer7)	NC_000017.10:g.60650662dup	VUS	1 lab	92c501d0a9
2:234704390 MROH2A A>G	2	234704390	234704390	A	G	MROH2A	c.1058A>G	NM_001394639.1	NP_001381568.1:p.(Gln353Arg)	NC_000002.11:g.234704390A>G	VUS	1 lab	92c6a15576
19:42364904 RPS19 C>G	19	42364904	42364904	C	G	RPS19	c.60C>G	NM_001022.4	NP_001013.1:p.(Ala20=)	NC_000019.9:g.42364904C>G	(Likely) benign	1 lab	92c8c31e4d
12:121438889 HNF1A T>TGTACC	12	121438889	121438894	T	TGTACC	HNF1A	c.1791_1795dup	NM_000545.8	NP_000536.6:p.(Gln599ArgfsTer63)	NC_000012.11:g.121438890_121438894dup	(Likely) pathogenic	1 lab	92cab537ae
3:113655096 GRAMD1C G>GT	3	113655096	113655107	G	GT	GRAMD1C	c.1457-6dup	NM_017577.5	NP_060047.3:p.?	NC_000003.11:g.113655107dup	(Likely) benign	1 lab	92cc31df3a
14:99969188 CCNK C>T	14	99969188	99969188	C	T	CCNK	c.878C>T	NM_001099402.2	NP_001092872.1:p.(Pro293Leu)	NC_000014.8:g.99969188C>T	(Likely) benign	1 lab	92cc98e3ba
15:99459982 IGF1R G>A	15	99459982	99459982	G	A	IGF1R	c.2078G>A	NM_000875.5	NP_000866.1:p.(Gly693Asp)	NC_000015.9:g.99459982G>A	VUS	1 lab	92ccdf7f95
7:107592471 LAMB1 C>T	7	107592471	107592471	C	T	LAMB1	c.3277G>A	NM_002291.3	NP_002282.2:p.(Gly1093Arg)	NC_000007.13:g.107592471C>T	VUS	1 lab	92cfa549bb
19:7117297 INSR C>T	19	7117297	7117297	C	T	INSR	c.3919G>A	NM_000208.4	NP_000199.2:p.(Glu1307Lys)	NC_000019.9:g.7117297C>T	VUS	1 lab	92d07ef576
2:179526890 TTN G>C	2	179526890	179526890	G	C	TTN	c.37099C>G	NM_001267550.2	NP_001254479.2:p.(Pro12367Ala)	NC_000002.11:g.179526890G>C	VUS	1 lab	92d148207e
22:26351158 MYO18B G>A	22	26351158	26351158	G	A	MYO18B	c.5984G>A	NM_032608.7	NP_115997.5:p.(Arg1995Gln)	NC_000022.10:g.26351158G>A	VUS	1 lab	92d180aa9a
19:18896645 COMP G>A	19	18896645	18896645	G	A	COMP	c.1506C>T	NM_000095.3	NP_000086.2:p.(Asp502=)	NC_000019.9:g.18896645G>A	(Likely) benign	1 lab	92d35921dc
1:112303844 DDX20 A>T	1	112303844	112303844	A	T	DDX20	c.963-4A>T	NM_007204.5	NP_009135.4:p.?	NC_000001.10:g.112303844A>T	(Likely) benign	1 lab	92d4a758a8
16:2142955 PKD1 C>A	16	2142955	2142955	C	A	PKD1	c.11156G>T	NM_001009944.3	NP_001009944.3:p.(Arg3719Leu)	NC_000016.9:g.2142955C>A	(Likely) pathogenic	1 lab	92d4bb97b2
14:23885431 MYH7 T>C	14	23885431	23885431	T	C	MYH7	c.4735A>G	NM_000257.4	NP_000248.2:p.(Lys1579Glu)	NC_000014.8:g.23885431T>C	VUS	1 lab	25f5a2f308
8:143396427 TSNARE1 A>AGGACGCTCCTGCTGC	8	143396427	143396442	A	AGGACGCTCCTGCTGC	TSNARE1	c.996_1010dup	NM_145003.5	NP_659440.2:p.(Gln334_Gln338dup)	NC_000008.10:g.143396428_143396442dup	VUS	1 lab	92d795b2d9
6:102503197 GRIK2 T>G	6	102503197	102503197	T	G	GRIK2	c.2312-8T>G	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102503197T>G	(Likely) benign	1 lab	92d7c76b44
10:82034829 MAT1A G>A	10	82034829	82034829	G	A	MAT1A	c.895C>T	NM_000429.3	NP_000420.1:p.(Arg299Cys)	NC_000010.10:g.82034829G>A	(Likely) pathogenic	1 lab	92d8ead2ce
8:61732641 CHD7 C>T	8	61732641	61732641	C	T	CHD7	c.2689C>T	NM_017780.4	NP_060250.2:p.(Arg897Trp)	NC_000008.10:g.61732641C>T	VUS	1 lab	92da869fcf
11:17172090 PIK3C2A T>C	11	17172090	17172090	T	C	PIK3C2A	c.1282A>G	NM_002645.4	NP_002636.2:p.(Ile428Val)	NC_000011.9:g.17172090T>C	VUS	1 lab	92db66ef44
2:197184502 HECW2 G>C	2	197184502	197184502	G	C	HECW2	c.1112C>G	NM_001348768.2	NP_001335697.1:p.(Pro371Arg)	NC_000002.11:g.197184502G>C	(Likely) benign	1 lab	92dbd90e02
7:31010770 GHRHR G>A	7	31010770	31010770	G	A	GHRHR	c.403G>A	NM_000823.4	NP_000814.2:p.(Val135Met)	NC_000007.13:g.31010770G>A	(Likely) benign	1 lab	92dbd9bb92
17:29559865 NF1 T>G	17	29559865	29559865	T	G	NF1	c.3462T>G	NM_001042492.3	NP_001035957.1:p.(Asn1154Lys)	NC_000017.10:g.29559865T>G	VUS	1 lab	92dcefb9fd
11:66456125 SPTBN2 G>A	11	66456125	66456125	G	A	SPTBN2	c.6230C>T	NM_006946.4	NP_008877.2:p.(Ala2077Val)	NC_000011.9:g.66456125G>A	VUS	1 lab	92dd7e2be3
19:42874993 MEGF8 A>T	19	42874993	42874993	A	T	MEGF8	c.7136+10A>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42874993A>T	(Likely) benign	1 lab	92de528da4
14:100728682 YY1 C>G	14	100728682	100728682	C	G	YY1	c.721C>G	NM_003403.5	NP_003394.1:p.(Gln241Glu)	NC_000014.8:g.100728682C>G	VUS	1 lab	92deacc4da
17:63526127 AXIN2 G>T	17	63526127	63526127	G	T	AXIN2	c.2499C>A	NM_004655.4	NP_004646.3:p.(Gly833=)	NC_000017.10:g.63526127G>T	(Likely) benign	1 lab	92dfdfcaf5
16:3778266 CREBBP A>G	16	3778266	3778266	A	G	CREBBP	c.6782T>C	NM_004380.3	NP_004371.2:p.(Met2261Thr)	NC_000016.9:g.3778266A>G	VUS	1 lab	92dfe1e2e6
11:10774222 CTR9 A>T	11	10774222	10774222	A	T	CTR9	c.49A>T	NM_014633.5	NP_055448.1:p.(Ile17Phe)	NC_000011.9:g.10774222A>T	(Likely) pathogenic	1 lab	92dfee4d51
7:5940136 CCZ1 T>C	7	5940136	5940136	T	C	CCZ1	c.251T>C	NM_015622.6	NP_056437.4:p.(Leu84Ser)	NC_000007.13:g.5940136T>C	VUS	1 lab	92e045a033
2:128421884 LIMS2 T>C	2	128421884	128421884	T	C	LIMS2	c.12-6748A>G	NM_001161403.3	NP_001154875.1:p.?	NC_000002.11:g.128421884T>C	VUS	1 lab	92e07738ba
22:41574685 EP300 C>T	22	41574685	41574685	C	T	EP300	c.6970C>T	NM_001429.4	NP_001420.2:p.(His2324Tyr)	NC_000022.10:g.41574685C>T	VUS	1 lab	25f66dddcc
17:17700194 RAI1 AG>A	17	17700194	17700199	AG	A	RAI1	c.3937del	NM_030665.4	NP_109590.3:p.(Ala1313ProfsTer2)	NC_000017.10:g.17700199del	(Likely) pathogenic	1 lab	92e4db8733
6:117662682 ROS1 A>G	6	117662682	117662682	A	G	ROS1	c.4765T>C	NM_001378902.1	NP_001365831.1:p.(Leu1589=)	NC_000006.11:g.117662682A>G	(Likely) benign	1 lab	92e5795fda
X:129185989 BCORL1 C>T	X	129185989	129185989	C	T	BCORL1	c.5073C>T	NM_001379451.1	NP_001366380.1:p.(Arg1691=)	NC_000023.10:g.129185989C>T	VUS	1 lab	92e7b56d15
12:49413006 KMT2D A>C	12	49413006	49413006	A	C	KMT2D	c.*2557T>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49413006A>C	VUS	1 lab	92e7f67d9b
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer42)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	92ea8c8462
16:2156497 PKD1 C>G	16	2156497	2156497	C	G	PKD1	c.7391G>C	NM_001009944.3	NP_001009944.3:p.(Arg2464Pro)	NC_000016.9:g.2156497C>G	VUS	1 lab	92eb856222
1:45293129 PTCH2 T>TG	1	45293129	45293134	T	TG	PTCH2	c.2315dup	NM_003738.5	NP_003729.3:p.(Pro773ThrfsTer25)	NC_000001.10:g.45293134dup	VUS	1 lab	92ebb09fde
19:7267433 INSR C>T	19	7267433	7267433	C	T	INSR	c.575G>A	NM_000208.4	NP_000199.2:p.(Gly192Asp)	NC_000019.9:g.7267433C>T	VUS	1 lab	92ec13e7e9
3:142261597 ATR A>G	3	142261597	142261597	A	G	ATR	c.3360T>C	NM_001184.4	NP_001175.2:p.(Ala1120=)	NC_000003.11:g.142261597A>G	(Likely) benign	1 lab	92ec2c6c19
19:14574896 PKN1 C>A	19	14574896	14574896	C	A	PKN1	c.1662C>A	NM_002741.5	NP_002732.3:p.(Asn554Lys)	NC_000019.9:g.14574896C>A	VUS	1 lab	92ec404171
16:19592896 VPS35L G>A	16	19592896	19592896	G	A	VPS35L	c.560G>A	NM_020314.7	NP_064710.5:p.(Arg187His)	NC_000016.9:g.19592896G>A	VUS	1 lab	92eedefe6b
1:2234766 SKI C>T	1	2234766	2234766	C	T	SKI	c.1138C>T	NM_003036.4	NP_003027.1:p.(Arg380Ter)	NC_000001.10:g.2234766C>T	VUS	1 lab	92efc9de26
2:86115959 ST3GAL5 G>A	2	86115959	86115959	G	A	ST3GAL5	c.70C>T	NM_003896.4	NP_003887.3:p.(Pro24Ser)	NC_000002.11:g.86115959G>A	(Likely) benign	1 lab	92f1c2bf73
18:14538198 POTEC A>T	18	14538198	14538198	A	T	POTEC	c.572T>A	NM_001137671.2	NP_001131143.1:p.(Leu191His)	NC_000018.9:g.14538198A>T	VUS	1 lab	92f4f7076c
17:39211182 KRTAP2-2 C>T	17	39211182	39211182	C	T	KRTAP2-2	c.282G>A	NM_033032.3	NP_149021.2:p.(Trp94Ter)	NC_000017.10:g.39211182C>T	(Likely) benign	1 lab	92f5d428e1
2:159954295 TANC1 C>A	2	159954295	159954295	C	A	TANC1	c.208C>A	NM_033394.3	NP_203752.2:p.(Leu70Met)	NC_000002.11:g.159954295C>A	VUS	1 lab	92f5d4f94c
16:17228351 XYLT1 G>A	16	17228351	17228351	G	A	XYLT1	c.2006C>T	NM_022166.4	NP_071449.1:p.(Thr669Met)	NC_000016.9:g.17228351G>A	(Likely) benign	1 lab	92f6026b6d
15:89414673 ACAN C>T	15	89414673	89414673	C	T	ACAN	c.7121C>T	NM_001369268.1	NP_001356197.1:p.(Pro2374Leu)	NC_000015.9:g.89414673C>T	(Likely) benign	1 lab	92f61d9e7f
22:21344815 LZTR1 G>T	22	21344815	21344815	G	T	LZTR1	c.791+1G>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21344815G>T	(Likely) pathogenic	1 lab	92f704d7c1
8:141449268 TRAPPC9 T>C	8	141449268	141449268	T	C	TRAPPC9	c.613A>G	NM_031466.8	NP_113654.5:p.(Met205Val)	NC_000008.10:g.141449268T>C	VUS	1 lab	25fa342749
14:100705725 YY1 C>G	14	100705725	100705725	C	G	YY1	c.144C>G	NM_003403.5	NP_003394.1:p.(Asp48Glu)	NC_000014.8:g.100705725C>G	(Likely) benign	1 lab	92f9948981
14:68264381 ZFYVE26 CA>C	14	68264381	68264382	CA	C	ZFYVE26	c.2332+7del	NM_015346.4	NP_056161.2:p.?	NC_000014.8:g.68264382del	(Likely) benign	1 lab	92fbf7acad
12:121437368 HNF1A G>C	12	121437368	121437368	G	C	HNF1A	c.1706G>C	NM_000545.8	NP_000536.6:p.(Ser569Thr)	NC_000012.11:g.121437368G>C	(Likely) benign	1 lab	92fc812696
7:4830329 AP5Z1 C>T	7	4830329	4830329	C	T	AP5Z1	c.1964C>T	NM_014855.3	NP_055670.1:p.(Ser655Leu)	NC_000007.13:g.4830329C>T	VUS	1 lab	92fcf841ec
7:156480859 LMBR1 C>T	7	156480859	156480859	C	T	LMBR1	c.1252G>A	NM_022458.4	NP_071903.2:p.(Asp418Asn)	NC_000007.13:g.156480859C>T	VUS	1 lab	92ff31cedd
X:54521775 FGD1 C>A	X	54521775	54521775	C	A	FGD1	c.91G>T	NM_004463.3	NP_004454.2:p.(Ala31Ser)	NC_000023.10:g.54521775C>A	(Likely) benign	1 lab	9300f33d47
19:7142993 INSR C>T	19	7142993	7142993	C	T	INSR	c.2376G>A	NM_000208.4	NP_000199.2:p.(Pro792=)	NC_000019.9:g.7142993C>T	(Likely) benign	1 lab	9302cad8d9
7:943843 ADAP1 C>T	7	943843	943843	C	T	ADAP1	c.568G>A	NM_006869.4	NP_006860.2:p.(Gly190Ser)	NC_000007.13:g.943843C>T	VUS	1 lab	9303c403e1
7:100283915 GIGYF1 C>T	7	100283915	100283915	C	T	GIGYF1	c.836G>A	NM_001375765.1	NP_001362694.1:p.(Arg279Gln)	NC_000007.13:g.100283915C>T	VUS	1 lab	93044c775d
X:44929524 KDM6A A>G	X	44929524	44929524	A	G	KDM6A	c.2780A>G	NM_001291415.2	NP_001278344.1:p.(His927Arg)	NC_000023.10:g.44929524A>G	VUS	1 lab	9304d2b55e
20:43058280 HNF4A C>A	20	43058280	43058280	C	A	HNF4A	c.1400C>A	NM_000457.5	NP_000448.3:p.(Thr467Asn)	NC_000020.10:g.43058280C>A	VUS	1 lab	9305298cbb
1:166890443 ILDR2 G>A	1	166890443	166890443	G	A	ILDR2	c.1385C>T	NM_199351.3	NP_955383.1:p.(Ser462Leu)	NC_000001.10:g.166890443G>A	VUS	1 lab	9307acdeb3
17:78064095 CCDC40 CA>C	17	78064095	78064096	CA	C	CCDC40	c.2832+413del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064096del	VUS	1 lab	93099359a7
10:76603046 KAT6B A>C	10	76603046	76603046	A	C	KAT6B	c.431A>C	NM_012330.4	NP_036462.2:p.(Asn144Thr)	NC_000010.10:g.76603046A>C	VUS	1 lab	930a3c6356
17:71434126 SDK2 C>T	17	71434126	71434126	C	T	SDK2	c.893G>A	NM_001144952.2	NP_001138424.1:p.(Arg298Gln)	NC_000017.10:g.71434126C>T	(Likely) benign	1 lab	930a872dfc
6:91257022 MAP3K7 T>C	6	91257022	91257022	T	C	MAP3K7	c.1165A>G	NM_145331.3	NP_663304.1:p.(Ser389Gly)	NC_000006.11:g.91257022T>C	VUS	1 lab	930b9023ee
10:12139783 DHTKD1 A>C	10	12139783	12139783	A	C	DHTKD1	c.1459A>C	NM_018706.7	NP_061176.4:p.(Lys487Gln)	NC_000010.10:g.12139783A>C	VUS	1 lab	930cc57369
7:82581525 PCLO G>C	7	82581525	82581525	G	C	PCLO	c.8744C>G	NM_033026.6	NP_149015.2:p.(Ser2915Cys)	NC_000007.13:g.82581525G>C	(Likely) benign	1 lab	930dcf16b3
16:17294394 XYLT1 C>T	16	17294394	17294394	C	T	XYLT1	c.1031G>A	NM_022166.4	NP_071449.1:p.(Arg344His)	NC_000016.9:g.17294394C>T	VUS	1 lab	930dfe3b53
X:24329884 SUPT20HL2 A>AAGCAGC	X	24329884	24329890	A	AAGCAGC	SUPT20HL2	c.1548_1549insGCTGCT	NM_001136233.3	NP_001129705.3:p.(Ala516_Leu517insAlaAla)	NC_000023.10:g.24329889_24329890insCAGCAG	VUS	1 lab	930e9b598a
1:33160552 SYNC G>A	1	33160552	33160552	G	A	SYNC	c.1147C>T	NM_030786.3	NP_110413.3:p.(Arg383Trp)	NC_000001.10:g.33160552G>A	VUS	1 lab	930f0115c1
8:55537479 RP1 C>A	8	55537479	55537479	C	A	RP1	c.1037C>A	NM_006269.2	NP_006260.1:p.(Thr346Asn)	NC_000008.10:g.55537479C>A	VUS	1 lab	93119ebb98
16:2155913 PKD1 G>A	16	2155913	2155913	G	A	PKD1	c.7816C>T	NM_001009944.3	NP_001009944.3:p.(Gln2606Ter)	NC_000016.9:g.2155913G>A	(Likely) pathogenic	1 lab	93127f664b
5:126158510 LMNB1 T>C	5	126158510	126158510	T	C	LMNB1	c.1424T>C	NM_005573.4	NP_005564.1:p.(Ile475Thr)	NC_000005.9:g.126158510T>C	VUS	1 lab	9314403fb4
4:6292935 WFS1 G>A	4	6292935	6292935	G	A	WFS1	c.472G>A	NM_006005.3	NP_005996.2:p.(Glu158Lys)	NC_000004.11:g.6292935G>A	(Likely) pathogenic	1 lab	931449fa30
13:21729290 SKA3 C>CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTT	13	21729290	21729291	C	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTT	SKA3	c.1239-2_1239-1insAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACT	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729290_21729291insAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTT	(Likely) benign	1 lab	93144da723
19:629790 POLRMT A>G	19	629790	629790	A	G	POLRMT	c.572T>C	NM_005035.4	NP_005026.3:p.(Leu191Pro)	NC_000019.9:g.629790A>G	VUS	1 lab	93174942d7
16:1252203 CACNA1H C>T	16	1252203	1252203	C	T	CACNA1H	c.1753C>T	NM_021098.3	NP_066921.2:p.(Pro585Ser)	NC_000016.9:g.1252203C>T	(Likely) benign	1 lab	931814b2d3
4:146563593 MMAA A>C	4	146563593	146563593	A	C	MMAA	c.518A>C	NM_172250.3	NP_758454.1:p.(Lys173Thr)	NC_000004.11:g.146563593A>C	VUS	1 lab	9318fbb8b8
13:42875546 AKAP11 A>T	13	42875546	42875546	A	T	AKAP11	c.2664A>T	NM_016248.4	NP_057332.1:p.(Leu888Phe)	NC_000013.10:g.42875546A>T	VUS	1 lab	93197d9e93
16:89347800 ANKRD11 T>A	16	89347800	89347800	T	A	ANKRD11	c.5150A>T	NM_013275.6	NP_037407.4:p.(Glu1717Val)	NC_000016.9:g.89347800T>A	VUS	1 lab	931c62b619
17:78354756 RNF213 C>T	17	78354756	78354756	C	T	RNF213	c.13766C>T	NM_001256071.3	NP_001243000.2:p.(Ala4589Val)	NC_000017.10:g.78354756C>T	(Likely) benign	1 lab	931dc00c04
16:1502884 CLCN7 G>A	16	1502884	1502884	G	A	CLCN7	c.1225C>T	NM_001287.6	NP_001278.1:p.(Arg409Trp)	NC_000016.9:g.1502884G>A	VUS	1 lab	931e404873
11:67265687 PITPNM1 C>T	11	67265687	67265687	C	T	PITPNM1	c.1591G>A	NM_004910.3	NP_004901.2:p.(Ala531Thr)	NC_000011.9:g.67265687C>T	VUS	1 lab	931eec0dc6
19:18896767 COMP C>T	19	18896767	18896767	C	T	COMP	c.1489+8G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896767C>T	(Likely) benign	1 lab	931f9fa8f0
4:5785382 EVC A>T	4	5785382	5785382	A	T	EVC	c.1667A>T	NM_153717.3	NP_714928.1:p.(Tyr556Phe)	NC_000004.11:g.5785382A>T	VUS	1 lab	93205ae5fb
14:51219250 NIN G>A	14	51219250	51219250	G	A	NIN	c.4936C>T	NM_020921.4	NP_065972.4:p.(Arg1646Cys)	NC_000014.8:g.51219250G>A	(Likely) benign	1 lab	9321122829
8:145009112 PLEC G>A	8	145009112	145009112	G	A	PLEC	c.826-15C>T	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145009112G>A	(Likely) benign	1 lab	9321fbeeec
17:3989000 ZZEF1 A>T	17	3989000	3989000	A	T	ZZEF1	c.2610T>A	NM_015113.4	NP_055928.3:p.(Asn870Lys)	NC_000017.10:g.3989000A>T	(Likely) benign	1 lab	93220b096c
12:7351630 PEX5 C>T	12	7351630	7351630	C	T	PEX5	c.472C>T	NM_001351132.2	NP_001338061.1:p.(Arg158Cys)	NC_000012.11:g.7351630C>T	VUS	1 lab	9322e211d0
3:129249710 RHO G>A	3	129249710	129249710	G	A	RHO	c.362-9G>A	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129249710G>A	(Likely) benign	1 lab	9323f126b5
11:32438075 WT1 C>G	11	32438075	32438075	C	G	WT1	c.977G>C	NM_024426.6	NP_077744.4:p.(Gly326Ala)	NC_000011.9:g.32438075C>G	VUS	1 lab	932406052e
5:251560 SDHA G>A	5	251560	251560	G	A	SDHA	c.1771G>A	NM_004168.4	NP_004159.2:p.(Ala591Thr)	NC_000005.9:g.251560G>A	VUS	1 lab	9324fb859a
4:81967101 BMP3 C>A	4	81967101	81967101	C	A	BMP3	c.526C>A	NM_001201.5	NP_001192.4:p.(Gln176Lys)	NC_000004.11:g.81967101C>A	(Likely) benign	1 lab	93266202d3
X:125298709 DCAF12L2 C>T	X	125298709	125298709	C	T	DCAF12L2	c.1199G>A	NM_001013628.3	NP_001013650.1:p.(Arg400Lys)	NC_000023.10:g.125298709C>T	VUS	1 lab	9326e9b051
11:118464356 ARCN1 A>G	11	118464356	118464356	A	G	ARCN1	c.1184A>G	NM_001655.5	NP_001646.2:p.(Tyr395Cys)	NC_000011.9:g.118464356A>G	VUS	1 lab	93271e70de
1:22159072 HSPG2 C>T	1	22159072	22159072	C	T	HSPG2	c.11123G>A	NM_005529.7	NP_005520.4:p.(Arg3708Gln)	NC_000001.10:g.22159072C>T	(Likely) benign	1 lab	932cfc2eaa
17:1173901 BHLHA9 G>A	17	1173901	1173901	G	A	BHLHA9	c.44G>A	NM_001164405.2	NP_001157877.1:p.(Gly15Glu)	NC_000017.10:g.1173901G>A	(Likely) benign	1 lab	932da88034
16:2153614 PKD1 G>GC	16	2153614	2153618	G	GC	PKD1	c.8443dup	NM_001009944.3	NP_001009944.3:p.(Ala2815GlyfsTer7)	NC_000016.9:g.2153618dup	(Likely) pathogenic	1 lab	932dcd91e9
X:142596805 SPANXN3 C>T	X	142596805	142596805	C	T	SPANXN3	c.265G>A	NM_001009609.4	NP_001009609.2:p.(Val89Ile)	NC_000023.10:g.142596805C>T	(Likely) benign	1 lab	93320b1bd0
7:21584695 DNAH11 C>A	7	21584695	21584695	C	A	DNAH11	c.423C>A	NM_001277115.2	NP_001264044.1:p.(Asp141Glu)	NC_000007.13:g.21584695C>A	VUS	1 lab	933217e4be
16:72831376 ZFHX3 T>TTGTTGC	16	72831376	72831382	T	TTGTTGC	ZFHX3	c.5204_5205insGCAACA	NM_006885.4	NP_008816.3:p.(Gln1740_Gln1741dup)	NC_000016.9:g.72831381_72831382insCTGTTG	VUS	1 lab	933284083f
19:38932970 RYR1 C>T	19	38932970	38932970	C	T	RYR1	c.166-19C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38932970C>T	(Likely) benign	1 lab	9333099691
11:108186585 ATM G>A	11	108186585	108186585	G	A	ATM	c.6042G>A	NM_000051.4	NP_000042.3:p.(Glu2014=)	NC_000011.9:g.108186585G>A	(Likely) benign	1 lab	9333c89495
9:117836150 TNC G>A	9	117836150	117836150	G	A	TNC	c.2951-5C>T	NM_002160.4	NP_002151.2:p.?	NC_000009.11:g.117836150G>A	(Likely) benign	1 lab	9333f9a456
15:90176976 KIF7 C>T	15	90176976	90176976	C	T	KIF7	c.2533G>A	NM_198525.3	NP_940927.2:p.(Glu845Lys)	NC_000015.9:g.90176976C>T	VUS	1 lab	93344f1d8f
2:220081385 ABCB6 T>C	2	220081385	220081385	T	C	ABCB6	c.857A>G	NM_005689.4	NP_005680.1:p.(Tyr286Cys)	NC_000002.11:g.220081385T>C	VUS	1 lab	93348f8c71
12:13717081 GRIN2B TGGA>T	12	13717081	13717089	TGGA	T	GRIN2B	c.3088_3090del	NM_000834.5	NP_000825.2:p.(Ser1030del)	NC_000012.11:g.13717087_13717089del	VUS	1 lab	933499ddbc
9:130436468 STXBP1 C>T	9	130436468	130436468	C	T	STXBP1	c.1110+928C>T	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130436468C>T	(Likely) benign	1 lab	93357b53ff
X:107816849 COL4A5 G>C	X	107816849	107816849	G	C	COL4A5	c.511G>C	NM_000495.5	NP_000486.1:p.(Gly171Arg)	NC_000023.10:g.107816849G>C	(Likely) pathogenic	1 lab	27a27a4f51
8:104330989 FZD6 T>C	8	104330989	104330989	T	C	FZD6	c.349T>C	NM_003506.4	NP_003497.2:p.(Trp117Arg)	NC_000008.10:g.104330989T>C	VUS	1 lab	9335f0e72c
16:53330972 CHD9 T>TG	16	53330972	53330974	T	TG	CHD9	c.5617dup	NM_001308319.2	NP_001295248.1:p.(Ala1873GlyfsTer2)	NC_000016.9:g.53330974dup	VUS	1 lab	93375466e2
6:51503677 PKHD1 G>T	6	51503677	51503677	G	T	PKHD1	c.11476C>A	NM_138694.4	NP_619639.3:p.(His3826Asn)	NC_000006.11:g.51503677G>T	(Likely) benign	1 lab	933933cab5
1:159141572 CADM3 CCTCGCT>C	1	159141572	159141579	CCTCGCT	C	CADM3	c.19_24del	NM_001127173.3	NP_001120645.1:p.(Ser7_Leu8del)	NC_000001.10:g.159141574_159141579del	VUS	1 lab	93398456c8
10:12131234 DHTKD1 G>A	10	12131234	12131234	G	A	DHTKD1	c.967G>A	NM_018706.7	NP_061176.4:p.(Asp323Asn)	NC_000010.10:g.12131234G>A	VUS	1 lab	933a5d9341
17:4576216 PELP1 G>GGGCATGGGGCCTGCTGAA	17	4576216	4576251	G	GGGCATGGGGCCTGCTGAA	PELP1	c.2052_2069dup	NM_014389.3	NP_055204.4:p.(Met689_Pro694dup)	NC_000017.10:g.4576234_4576251dup	VUS	1 lab	933af2809f
X:49834589 CLCN5 CT>C	X	49834589	49834591	CT	C	CLCN5	c.221del	NM_001127898.4	NP_001121370.1:p.(Leu74TrpfsTer8)	NC_000023.10:g.49834591del	(Likely) pathogenic	1 lab	27a4131b21
16:29815342 KIF22 A>G	16	29815342	29815342	A	G	KIF22	c.1633A>G	NM_007317.3	NP_015556.1:p.(Asn545Asp)	NC_000016.9:g.29815342A>G	(Likely) benign	1 lab	933c30a494
3:424178 CHL1 G>T	3	424178	424178	G	T	CHL1	c.2000G>T	NM_006614.4	NP_006605.2:p.(Gly667Val)	NC_000003.11:g.424178G>T	(Likely) benign	1 lab	933eeab987
12:46231194 ARID2 A>T	12	46231194	46231194	A	T	ARID2	c.1114A>T	NM_152641.4	NP_689854.2:p.(Met372Leu)	NC_000012.11:g.46231194A>T	VUS	1 lab	9340568370
9:13108987 MPDZ T>C	9	13108987	13108987	T	C	MPDZ	c.6014A>G	NM_001378778.1	NP_001365707.1:p.(Tyr2005Cys)	NC_000009.11:g.13108987T>C	VUS	1 lab	9340c82f46
18:28934317 DSG1 A>G	18	28934317	28934317	A	G	DSG1	c.2158A>G	NM_001942.4	NP_001933.2:p.(Ile720Val)	NC_000018.9:g.28934317A>G	VUS	1 lab	25fb9f5734
1:64104464 PGM1 C>T	1	64104464	64104464	C	T	PGM1	c.1137C>T	NM_002633.3	NP_002624.2:p.(Phe379=)	NC_000001.10:g.64104464C>T	VUS	1 lab	9341e6c118
11:110036365 ZC3H12C A>C	11	110036365	110036365	A	C	ZC3H12C	c.2555A>C	NM_033390.2	NP_203748.1:p.(Asp852Ala)	NC_000011.9:g.110036365A>C	(Likely) benign	1 lab	93420bdc2b
1:145457598 POLR3GL C>T	1	145457598	145457598	C	T	POLR3GL	c.332G>A	NM_032305.3	NP_115681.1:p.(Arg111Gln)	NC_000001.10:g.145457598C>T	VUS	1 lab	9342c6720a
14:102495972 DYNC1H1 G>A	14	102495972	102495972	G	A	DYNC1H1	c.9565G>A	NM_001376.5	NP_001367.2:p.(Glu3189Lys)	NC_000014.8:g.102495972G>A	(Likely) benign	1 lab	9344662e24
5:147506547 SPINK5 CT>C	5	147506547	147506548	CT	C	SPINK5	c.2870del	NM_006846.4	NP_006837.2:p.(Leu957GlnfsTer46)	NC_000005.9:g.147506548del	VUS	1 lab	93475b3a81
7:152113654 KMT2C AC>A	7	152113654	152113655	AC	A	KMT2C	c.161+19056del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152113655del	(Likely) benign	1 lab	9347b41e2d
15:58257913 ALDH1A2 G>A	15	58257913	58257913	G	A	ALDH1A2	c.901+10C>T	NM_003888.4	NP_003879.2:p.?	NC_000015.9:g.58257913G>A	(Likely) benign	1 lab	93497a6641
17:16042400 NCOR1 T>A	17	16042400	16042400	T	A	NCOR1	c.1274A>T	NM_006311.4	NP_006302.2:p.(Glu425Val)	NC_000017.10:g.16042400T>A	VUS	1 lab	934a1ef1b6
7:142570137 TRPV6 C>T	7	142570137	142570137	C	T	TRPV6	c.2003G>A	NM_018646.6	NP_061116.5:p.(Arg668His)	NC_000007.13:g.142570137C>T	VUS	1 lab	934c2532b4
2:240969461 OR6B2 G>A	2	240969461	240969461	G	A	OR6B2	c.386C>T	NM_001005853.1	NP_001005853.1:p.(Pro129Leu)	NC_000002.11:g.240969461G>A	VUS	1 lab	934dedb4cb
15:101718045 CHSY1 G>C	15	101718045	101718045	G	C	CHSY1	c.1957C>G	NM_014918.5	NP_055733.2:p.(Gln653Glu)	NC_000015.9:g.101718045G>C	(Likely) benign	1 lab	934e29bb63
1:116269700 CASQ2 T>C	1	116269700	116269700	T	C	CASQ2	c.650A>G	NM_001232.4	NP_001223.2:p.(Tyr217Cys)	NC_000001.10:g.116269700T>C	VUS	1 lab	25fcf3400d
17:80789802 TBCD C>T	17	80789802	80789802	C	T	TBCD	c.1318+16992C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80789802C>T	(Likely) benign	1 lab	934e83c53a
5:37187949 CPLANE1 A>C	5	37187949	37187949	A	C	CPLANE1	c.3812-5T>G	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37187949A>C	VUS	1 lab	934eb6ad3f
1:236212189 NID1 G>T	1	236212189	236212189	G	T	NID1	c.326C>A	NM_002508.3	NP_002499.2:p.(Ala109Glu)	NC_000001.10:g.236212189G>T	VUS	1 lab	934f0fdedc
5:58295383 PDE4D T>TAC	5	58295383	58295385	T	TAC	PDE4D	c.922-6092_922-6091insGT	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58295384_58295385insCA	VUS	1 lab	934f723107
12:114793779 TBX5 G>A	12	114793779	114793779	G	A	TBX5	c.1115C>T	NM_181486.4	NP_852259.1:p.(Ser372Leu)	NC_000012.11:g.114793779G>A	(Likely) benign	1 lab	935081b1a6
2:241696745 KIF1A A>G	2	241696745	241696745	A	G	KIF1A	c.2849T>C	NM_001244008.2	NP_001230937.1:p.(Leu950Ser)	NC_000002.11:g.241696745A>G	(Likely) benign	1 lab	93511bdf97
4:77662298 SHROOM3 C>A	4	77662298	77662298	C	A	SHROOM3	c.2972C>A	NM_020859.4	NP_065910.3:p.(Ala991Asp)	NC_000004.11:g.77662298C>A	(Likely) benign	1 lab	935143c390
6:117248401 RFX6 C>G	6	117248401	117248401	C	G	RFX6	c.2097C>G	NM_173560.4	NP_775831.2:p.(Thr699=)	NC_000006.11:g.117248401C>G	(Likely) benign	1 lab	93519ffd64
7:15430495 AGMO C>A	7	15430495	15430495	C	A	AGMO	c.712G>T	NM_001004320.2	NP_001004320.1:p.(Gly238Cys)	NC_000007.13:g.15430495C>A	VUS	1 lab	93520d1c94
10:14976730 DCLRE1C T>G	10	14976730	14976730	T	G	DCLRE1C	c.149A>C	NM_001289079.2	NP_001276008.1:p.(Asp50Ala)	NC_000010.10:g.14976730T>G	VUS	1 lab	25fd41dab6
1:237843828 RYR2 C>G	1	237843828	237843828	C	G	RYR2	c.8968C>G	NM_001035.3	NP_001026.2:p.(Leu2990Val)	NC_000001.10:g.237843828C>G	VUS	1 lab	9353b9f1cd
8:38287319 FGFR1 C>A	8	38287319	38287319	C	A	FGFR1	c.239G>T	NM_023110.3	NP_075598.2:p.(Arg80Leu)	NC_000008.10:g.38287319C>A	VUS	1 lab	93a6781095
4:15707179 BST1 C>T	4	15707179	15707179	C	T	BST1	c.230C>T	NM_004334.3	NP_004325.2:p.(Ala77Val)	NC_000004.11:g.15707179C>T	(Likely) benign	1 lab	93555102f4
2:220118818 TUBA4B T>G	2	220118818	220118818	T	G	TUBA4B	c.12+677T>G	NM_001355221.1	NP_001342150.1:p.?	NC_000002.11:g.220118818T>G	(Likely) benign	1 lab	93557ad738
21:47552067 COL6A2 G>A	21	47552067	47552067	G	A	COL6A2	c.2661G>A	NM_001849.4	NP_001840.3:p.(Glu887=)	NC_000021.8:g.47552067G>A	(Likely) benign	1 lab	935720aba3
11:2417954 CD81 C>T	11	2417954	2417954	C	T	CD81	c.648+10C>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2417954C>T	(Likely) benign	1 lab	3734681b8a
18:42532388 SETBP1 C>G	18	42532388	42532388	C	G	SETBP1	c.3083C>G	NM_015559.3	NP_056374.2:p.(Thr1028Ser)	NC_000018.9:g.42532388C>G	(Likely) benign	1 lab	9358043a28
X:140985318 MAGEC3 C>G	X	140985318	140985318	C	G	MAGEC3	c.1728+46C>G	NM_138702.1	NP_619647.1:p.?	NC_000023.10:g.140985318C>G	(Likely) benign	1 lab	935980245a
10:119003566 SLC18A2 C>T	10	119003566	119003566	C	T	SLC18A2	c.206C>T	NM_003054.6	NP_003045.2:p.(Ala69Val)	NC_000010.10:g.119003566C>T	VUS	1 lab	935aaba481
1:46546396 PIK3R3 T>C	1	46546396	46546396	T	C	PIK3R3	c.133A>G	NM_003629.4	NP_003620.3:p.(Met45Val)	NC_000001.10:g.46546396T>C	(Likely) benign	1 lab	935adb3a9f
2:3461458 TRAPPC12 A>G	2	3461458	3461458	A	G	TRAPPC12	c.1597A>G	NM_016030.6	NP_057114.5:p.(Arg533Gly)	NC_000002.11:g.3461458A>G	(Likely) benign	1 lab	935bd605ab
15:66996413 SMAD6 G>C	15	66996413	66996413	G	C	SMAD6	c.817G>C	NM_005585.5	NP_005576.3:p.(Glu273Gln)	NC_000015.9:g.66996413G>C	VUS	1 lab	935d955832
6:21594957 SOX4 C>A	6	21594957	21594957	C	A	SOX4	c.192C>A	NM_003107.3	NP_003098.1:p.(Asn64Lys)	NC_000006.11:g.21594957C>A	(Likely) pathogenic	1 lab	935f91c167
1:17603075 PADI3 C>T	1	17603075	17603075	C	T	PADI3	c.1369C>T	NM_016233.2	NP_057317.2:p.(Pro457Ser)	NC_000001.10:g.17603075C>T	(Likely) benign	1 lab	935f9bbc37
5:37016667 NIPBL G>A	5	37016667	37016667	G	A	NIPBL	c.4776+395G>A	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37016667G>A	(Likely) benign	1 lab	93602b20d0
2:167133509 SCN9A A>C	2	167133509	167133509	A	C	SCN9A	c.2858T>G	NM_001365536.1	NP_001352465.1:p.(Val953Gly)	NC_000002.11:g.167133509A>C	VUS	1 lab	93608cf4e8
12:65563948 LEMD3 G>GCTTC	12	65563948	65563949	G	GCTTC	LEMD3	c.572_573insCTTC	NM_014319.5	NP_055134.2:p.(Arg191SerfsTer39)	NC_000012.11:g.65563948_65563949insCTTC	(Likely) pathogenic	1 lab	9360f83a49
22:42564700 TCF20 C>A	22	42564700	42564700	C	A	TCF20	c.5842G>T	NM_001378418.1	NP_001365347.1:p.(Ala1948Ser)	NC_000022.10:g.42564700C>A	(Likely) benign	1 lab	9360f94c42
14:21623524 OR5AU1 C>T	14	21623524	21623524	C	T	OR5AU1	c.508G>A	NM_001004731.3	NP_001004731.2:p.(Gly170Ser)	NC_000014.8:g.21623524C>T	VUS	1 lab	9361d4f112
4:1807820 FGFR3 G>A	4	1807820	1807820	G	A	FGFR3	c.1879G>A	NM_000142.5	NP_000133.1:p.(Glu627Lys)	NC_000004.11:g.1807820G>A	VUS	1 lab	9363ac8cff
17:79213420 NDUFAF8 T>C	17	79213420	79213420	T	C	NDUFAF8	c.137T>C	NM_001086521.2	NP_001079990.1:p.(Leu46Pro)	NC_000017.10:g.79213420T>C	VUS	1 lab	9364a7e9b8
1:89655949 GBP4 T>TTGGAG	1	89655949	89655950	T	TTGGAG	GBP4	c.968_969insCTCCA	NM_052941.5	NP_443173.2:p.(Pro324SerfsTer9)	NC_000001.10:g.89655949_89655950insTGGAG	VUS	1 lab	9364b411ce
10:78669784 KCNMA1 C>T	10	78669784	78669784	C	T	KCNMA1	c.2925G>A	NM_001014797.3	NP_001014797.1:p.(Thr975=)	NC_000010.10:g.78669784C>T	(Likely) benign	1 lab	27a49e06c6
5:179016651 RUFY1 G>A	5	179016651	179016651	G	A	RUFY1	c.1128+3G>A	NM_025158.5	NP_079434.3:p.?	NC_000005.9:g.179016651G>A	(Likely) benign	1 lab	936664d301
9:98209217 PTCH1 G>A	9	98209217	98209217	G	A	PTCH1	c.4321C>T	NM_000264.5	NP_000255.2:p.(Pro1441Ser)	NC_000009.11:g.98209217G>A	(Likely) benign	1 lab	9366f070b9
19:21713459 ZNF429 C>T	19	21713459	21713459	C	T	ZNF429	c.199C>T	NM_001001415.4	NP_001001415.2:p.(Arg67Ter)	NC_000019.9:g.21713459C>T	(Likely) benign	1 lab	936844b654
2:179399128 TTN A>G	2	179399128	179399128	A	G	TTN	c.102214T>C	NM_001267550.2	NP_001254479.2:p.(Trp34072Arg)	NC_000002.11:g.179399128A>G	(Likely) pathogenic	1 lab	936cab236e
17:62034632 SCN4A G>A	17	62034632	62034632	G	A	SCN4A	c.2266C>T	NM_000334.4	NP_000325.4:p.(Arg756Cys)	NC_000017.10:g.62034632G>A	VUS	1 lab	936cd64817
12:49432153 KMT2D C>T	12	49432153	49432153	C	T	KMT2D	c.8986G>A	NM_003482.4	NP_003473.3:p.(Asp2996Asn)	NC_000012.11:g.49432153C>T	(Likely) benign	1 lab	936d5ed005
2:208988951 CRYGD T>C	2	208988951	208988951	T	C	CRYGD	c.137A>G	NM_006891.4	NP_008822.2:p.(Tyr46Cys)	NC_000002.11:g.208988951T>C	(Likely) benign	1 lab	936ddf4c26
17:58740555 PPM1D A>G	17	58740555	58740555	A	G	PPM1D	c.1460A>G	NM_003620.4	NP_003611.1:p.(His487Arg)	NC_000017.10:g.58740555A>G	(Likely) benign	1 lab	936f6c4a82
X:71357034 NHSL2 G>A	X	71357034	71357034	G	A	NHSL2	c.851G>A	NM_001013627.3	NP_001013649.2:p.(Arg284Gln)	NC_000023.10:g.71357034G>A	(Likely) benign	1 lab	936fc8359a
21:47574152 FTCD G>A	21	47574152	47574152	G	A	FTCD	c.149C>T	NM_206965.2	NP_996848.1:p.(Thr50Ile)	NC_000021.8:g.47574152G>A	VUS	1 lab	9371b04db1
2:217277384 SMARCAL1 T>C	2	217277384	217277384	T	C	SMARCAL1	c.-96+13T>C	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217277384T>C	(Likely) benign	1 lab	27a61855ff
8:41832341 KAT6A C>A	8	41832341	41832341	C	A	KAT6A	c.1364-1G>T	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41832341C>A	(Likely) pathogenic	1 lab	937356c173
6:157150511 ARID1B C>A	6	157150511	157150511	C	A	ARID1B	c.1942C>A	NM_001374828.1	NP_001361757.1:p.(Arg648=)	NC_000006.11:g.157150511C>A	(Likely) benign	1 lab	9375a1734e
4:122261724 QRFPR C>T	4	122261724	122261724	C	T	QRFPR	c.382G>A	NM_198179.3	NP_937822.2:p.(Ala128Thr)	NC_000004.11:g.122261724C>T	(Likely) benign	1 lab	9376201897
2:179638970 TTN C>T	2	179638970	179638970	C	T	TTN	c.7021G>A	NM_001267550.2	NP_001254479.2:p.(Asp2341Asn)	NC_000002.11:g.179638970C>T	VUS	1 lab	93762cb7bb
16:2156170 PKD1 C>T	16	2156170	2156170	C	T	PKD1	c.7625G>A	NM_001009944.3	NP_001009944.3:p.(Gly2542Asp)	NC_000016.9:g.2156170C>T	(Likely) pathogenic	1 lab	9376a64be6
9:74863222 GDA C>T	9	74863222	74863222	C	T	GDA	c.1329C>T	NM_004293.5	NP_004284.1:p.(Gly443=)	NC_000009.11:g.74863222C>T	(Likely) benign	1 lab	9377656e9b
6:51917906 PKHD1 T>A	6	51917906	51917906	T	A	PKHD1	c.2108A>T	NM_138694.4	NP_619639.3:p.(Asp703Val)	NC_000006.11:g.51917906T>A	VUS	1 lab	9377f9e03b
2:48718158 PPP1R21 T>G	2	48718158	48718158	T	G	PPP1R21	c.1448T>G	NM_001135629.3	NP_001129101.1:p.(Ile483Ser)	NC_000002.11:g.48718158T>G	VUS	1 lab	9379f0451b
4:15538580 CC2D2A G>A	4	15538580	15538580	G	A	CC2D2A	c.1645G>A	NM_001378615.1	NP_001365544.1:p.(Glu549Lys)	NC_000004.11:g.15538580G>A	VUS	1 lab	937a99e4fc
14:21837976 SUPT16H C>T	14	21837976	21837976	C	T	SUPT16H	c.563G>A	NM_007192.4	NP_009123.1:p.(Ser188Asn)	NC_000014.8:g.21837976C>T	(Likely) benign	1 lab	937b484f61
17:4805777 CHRNE C>T	17	4805777	4805777	C	T	CHRNE	c.202G>A	NM_000080.4	NP_000071.1:p.(Glu68Lys)	NC_000017.10:g.4805777C>T	VUS	1 lab	937c8463ee
16:4755108 ANKS3 G>A	16	4755108	4755108	G	A	ANKS3	c.856C>T	NM_133450.4	NP_597707.1:p.(Arg286Trp)	NC_000016.9:g.4755108G>A	(Likely) benign	1 lab	937d1a3697
9:21008088 HACD4 T>G	9	21008088	21008088	T	G	HACD4	c.548A>C	NM_001010915.5	NP_001010915.2:p.(Lys183Thr)	NC_000009.11:g.21008088T>G	VUS	1 lab	937db1fadb
1:161993187 OLFML2B C>T	1	161993187	161993187	C	T	OLFML2B	c.34G>A	NM_015441.3	NP_056256.1:p.(Ala12Thr)	NC_000001.10:g.161993187C>T	VUS	1 lab	937df56dbe
2:44502711 SLC3A1 A>T	2	44502711	44502711	A	T	SLC3A1	c.37A>T	NM_000341.4	NP_000332.2:p.(Met13Leu)	NC_000002.11:g.44502711A>T	VUS	1 lab	937ee3de4f
15:99467854 IGF1R C>T	15	99467854	99467854	C	T	IGF1R	c.2723C>T	NM_000875.5	NP_000866.1:p.(Thr908Ile)	NC_000015.9:g.99467854C>T	(Likely) benign	1 lab	937eea058d
19:41198952 COQ8B C>T	19	41198952	41198952	C	T	COQ8B	c.1210-10G>A	NM_024876.4	NP_079152.3:p.?	NC_000019.9:g.41198952C>T	(Likely) benign	1 lab	27a6ed071b
X:67284011 OPHN1 G>C	X	67284011	67284011	G	C	OPHN1	c.1843C>G	NM_002547.3	NP_002538.1:p.(Gln615Glu)	NC_000023.10:g.67284011G>C	(Likely) benign	1 lab	9381a0c248
16:30745338 SRCAP T>G	16	30745338	30745338	T	G	SRCAP	c.6609+9T>G	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30745338T>G	(Likely) benign	1 lab	93837819db
17:68171202 KCNJ2 C>T	17	68171202	68171202	C	T	KCNJ2	c.22C>T	NM_000891.3	NP_000882.1:p.(Arg8Cys)	NC_000017.10:g.68171202C>T	VUS	1 lab	9383ad23ac
9:139092477 LHX3 G>A	9	139092477	139092477	G	A	LHX3	c.202C>T	NM_178138.6	NP_835258.1:p.(Arg68Cys)	NC_000009.11:g.139092477G>A	VUS	1 lab	9386032ec7
2:230725226 TRIP12 T>G	2	230725226	230725226	T	G	TRIP12	c.120A>C	NM_001348323.3	NP_001335252.1:p.(Lys40Asn)	NC_000002.11:g.230725226T>G	(Likely) benign	1 lab	9387d8502c
14:45645504 FANCM T>C	14	45645504	45645504	T	C	FANCM	c.3547T>C	NM_020937.4	NP_065988.1:p.(Leu1183=)	NC_000014.8:g.45645504T>C	(Likely) benign	1 lab	9388452d94
11:64060642 KCNK4 C>T	11	64060642	64060642	C	T	KCNK4	c.152C>T	NM_033310.3	NP_201567.1:p.(Pro51Leu)	NC_000011.9:g.64060642C>T	(Likely) benign	1 lab	9388afcdfe
7:104742385 KMT2E G>A	7	104742385	104742385	G	A	KMT2E	c.1940G>A	NM_182931.3	NP_891847.1:p.(Arg647Lys)	NC_000007.13:g.104742385G>A	VUS	1 lab	9389bb97f6
22:18897763 DGCR6 C>T	22	18897763	18897763	C	T	DGCR6	c.350C>T	NM_005675.6	NP_005666.2:p.(Ala117Val)	NC_000022.10:g.18897763C>T	(Likely) benign	1 lab	938ae7a823
2:132236920 TUBA3D C>G	2	132236920	132236920	C	G	TUBA3D	c.266C>G	NM_080386.4	NP_525125.2:p.(Pro89Arg)	NC_000002.11:g.132236920C>G	VUS	1 lab	938b4a3a87
4:169433143 PALLD G>GC	4	169433143	169433148	G	GC	PALLD	c.493dup	NM_001166108.2	NP_001159580.1:p.(Gln165ProfsTer6)	NC_000004.11:g.169433148dup	VUS	1 lab	938f2c43b8
1:44474080 SLC6A9 A>G	1	44474080	44474080	A	G	SLC6A9	c.535T>C	NM_001024845.3	NP_001020016.1:p.(Ser179Pro)	NC_000001.10:g.44474080A>G	VUS	1 lab	938fdfb485
5:127610357 FBN2 G>T	5	127610357	127610357	G	T	FBN2	c.7613C>A	NM_001999.4	NP_001990.2:p.(Thr2538Lys)	NC_000005.9:g.127610357G>T	VUS	1 lab	938fefd440
1:2337934 PEX10 A>G	1	2337934	2337934	A	G	PEX10	c.901T>C	NM_002617.4	NP_002608.1:p.(Cys301Arg)	NC_000001.10:g.2337934A>G	VUS	1 lab	9390ce223c
20:44596262 ZNF335 C>T	20	44596262	44596262	C	T	ZNF335	c.826G>A	NM_022095.4	NP_071378.1:p.(Ala276Thr)	NC_000020.10:g.44596262C>T	(Likely) benign	1 lab	9390e4f492
14:100706013 YY1 C>A	14	100706013	100706013	C	A	YY1	c.432C>A	NM_003403.5	NP_003394.1:p.(Asp144Glu)	NC_000014.8:g.100706013C>A	(Likely) benign	1 lab	9391b8593b
11:85961363 EED G>T	11	85961363	85961363	G	T	EED	c.140G>T	NM_003797.5	NP_003788.2:p.(Gly47Val)	NC_000011.9:g.85961363G>T	VUS	1 lab	9394c8e175
4:1808426 FGFR3 G>T	4	1808426	1808426	G	T	FGFR3	c.2168+16G>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808426G>T	(Likely) benign	1 lab	93960c037a
16:87723890 JPH3 G>A	16	87723890	87723890	G	A	JPH3	c.1924G>A	NM_020655.4	NP_065706.2:p.(Asp642Asn)	NC_000016.9:g.87723890G>A	(Likely) benign	1 lab	9398f60204
13:111145548 COL4A2 A>G	13	111145548	111145548	A	G	COL4A2	c.3563-10A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111145548A>G	(Likely) benign	1 lab	939abea7e9
1:39824482 MACF1 G>C	1	39824482	39824482	G	C	MACF1	c.12057G>C	NM_001394062.1	NP_001380991.1:p.(Lys4019Asn)	NC_000001.10:g.39824482G>C	(Likely) benign	1 lab	939de63889
15:56723692 MNS1 C>T	15	56723692	56723692	C	T	MNS1	c.1274G>A	NM_018365.4	NP_060835.1:p.(Arg425His)	NC_000015.9:g.56723692C>T	VUS	1 lab	2607fe8238
9:139734162 RABL6 G>A	9	139734162	139734162	G	A	RABL6	c.1775G>A	NM_024718.5	NP_078994.3:p.(Arg592Gln)	NC_000009.11:g.139734162G>A	VUS	1 lab	93a2747588
16:2815592 SRRM2 G>A	16	2815592	2815592	G	A	SRRM2	c.5063G>A	NM_016333.4	NP_057417.3:p.(Arg1688His)	NC_000016.9:g.2815592G>A	VUS	1 lab	93a3c215fb
1:158612112 SPTA1 A>T	1	158612112	158612112	A	T	SPTA1	c.4737+89T>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158612112A>T	(Likely) benign	1 lab	27a864ad48
15:75659923 MAN2C1 C>T	15	75659923	75659923	C	T	MAN2C1	c.280G>A	NM_006715.4	NP_006706.2:p.(Gly94Ser)	NC_000015.9:g.75659923C>T	VUS	1 lab	93a5339fdc
17:36895008 PCGF2 G>A	17	36895008	36895008	G	A	PCGF2	c.423C>T	NM_007144.3	NP_009075.1:p.(Ala141=)	NC_000017.10:g.36895008G>A	VUS	1 lab	93a76d9f21
6:152712420 SYNE1 G>T	6	152712420	152712420	G	T	SYNE1	c.7996C>A	NM_182961.4	NP_892006.3:p.(Gln2666Lys)	NC_000006.11:g.152712420G>T	VUS	1 lab	93a7e408ca
4:79373436 FRAS1 G>A	4	79373436	79373436	G	A	FRAS1	c.6691G>A	NM_025074.7	NP_079350.5:p.(Gly2231Arg)	NC_000004.11:g.79373436G>A	(Likely) benign	1 lab	93a885b54a
5:98216861 CHD1 A>T	5	98216861	98216861	A	T	CHD1	c.2979T>A	NM_001270.4	NP_001261.2:p.(Asp993Glu)	NC_000005.9:g.98216861A>T	VUS	1 lab	93a8b9dd7f
1:223934845 CAPN2 C>T	1	223934845	223934845	C	T	CAPN2	c.707C>T	NM_001748.5	NP_001739.3:p.(Ser236Phe)	NC_000001.10:g.223934845C>T	VUS	1 lab	93a8d01c0b
1:33478860 AK2 C>T	1	33478860	33478860	C	T	AK2	c.642G>A	NM_001625.4	NP_001616.1:p.(Gln214=)	NC_000001.10:g.33478860C>T	(Likely) benign	1 lab	27aabc7a8c
12:121435307 HNF1A C>T	12	121435307	121435307	C	T	HNF1A	c.1340C>T	NM_000545.8	NP_000536.6:p.(Pro447Leu)	NC_000012.11:g.121435307C>T	(Likely) pathogenic	1 lab	93a943597a
10:97413116 ALDH18A1 G>A	10	97413116	97413116	G	A	ALDH18A1	c.19C>T	NM_002860.4	NP_002851.2:p.(Arg7Cys)	NC_000010.10:g.97413116G>A	VUS	1 lab	93ab811ed4
8:77775448 ZFHX4 A>ACCT	8	77775448	77775469	A	ACCT	ZFHX4	c.9517_9519dup	NM_024721.5	NP_078997.4:p.(Pro3173dup)	NC_000008.10:g.77775467_77775469dup	VUS	1 lab	260b5f11f9
19:18256571 MAST3 C>A	19	18256571	18256571	C	A	MAST3	c.3058C>A	NM_001393504.1	NP_001380433.1:p.(Pro1020Thr)	NC_000019.9:g.18256571C>A	VUS	1 lab	93abbc9bc1
7:142458409 PRSS1 C>G	7	142458409	142458409	C	G	PRSS1	c.44C>G	NM_002769.5	NP_002760.1:p.(Ala15Gly)	NC_000007.13:g.142458409C>G	(Likely) benign	1 lab	93abe0d635
18:44102171 LOXHD1 T>C	18	44102171	44102171	T	C	LOXHD1	c.4978A>G	NM_001384474.1	NP_001371403.1:p.(Lys1660Glu)	NC_000018.9:g.44102171T>C	VUS	1 lab	93ae96dbd3
11:6292125 CCKBR G>A	11	6292125	6292125	G	A	CCKBR	c.811+92G>A	NM_176875.4	NP_795344.1:p.?	NC_000011.9:g.6292125G>A	VUS	1 lab	93af814a18
15:90216643 PLIN1 C>T	15	90216643	90216643	C	T	PLIN1	c.48G>A	NM_002666.5	NP_002657.3:p.(Glu16=)	NC_000015.9:g.90216643C>T	(Likely) benign	1 lab	93b053f151
17:27777675 TAOK1 G>A	17	27777675	27777675	G	A	TAOK1	c.-94-798G>A	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27777675G>A	(Likely) benign	1 lab	93b08ebbab
10:226044 ZMYND11 T>C	10	226044	226044	T	C	ZMYND11	c.92T>C	NM_001370100.5	NP_001357029.1:p.(Ile31Thr)	NC_000010.10:g.226044T>C	VUS	1 lab	93b099bdc8
2:157368834 GPD2 G>A	2	157368834	157368834	G	A	GPD2	c.497+5G>A	NM_000408.5	NP_000399.3:p.?	NC_000002.11:g.157368834G>A	VUS	1 lab	93b10714a7
17:8052583 PER1 C>T	17	8052583	8052583	C	T	PER1	c.899G>A	NM_002616.3	NP_002607.2:p.(Arg300His)	NC_000017.10:g.8052583C>T	VUS	1 lab	93b2eef11f
X:79971759 BRWD3 A>G	X	79971759	79971759	A	G	BRWD3	c.2232-10T>C	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79971759A>G	(Likely) benign	1 lab	93b3697a4f
12:133214625 POLE C>T	12	133214625	133214625	C	T	POLE	c.5653G>A	NM_006231.4	NP_006222.2:p.(Ala1885Thr)	NC_000012.11:g.133214625C>T	VUS	1 lab	93b388f10b
18:21043975 RIOK3 C>G	18	21043975	21043975	C	G	RIOK3	c.224C>G	NM_003831.5	NP_003822.2:p.(Ser75Cys)	NC_000018.9:g.21043975C>G	VUS	1 lab	93b3eff725
17:19576471 ALDH3A2 A>G	17	19576471	19576471	A	G	ALDH3A2	c.1443+1202A>G	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19576471A>G	VUS	1 lab	93b4614dbc
1:180832949 XPR1 T>C	1	180832949	180832949	T	C	XPR1	c.1607T>C	NM_004736.4	NP_004727.2:p.(Leu536Pro)	NC_000001.10:g.180832949T>C	VUS	1 lab	93b62c54d6
7:100855574 PLOD3 C>T	7	100855574	100855574	C	T	PLOD3	c.1087G>A	NM_001084.5	NP_001075.1:p.(Glu363Lys)	NC_000007.13:g.100855574C>T	VUS	1 lab	93b7740a12
2:27356019 PREB G>C	2	27356019	27356019	G	C	PREB	c.512C>G	NM_013388.6	NP_037520.1:p.(Thr171Ser)	NC_000002.11:g.27356019G>C	VUS	1 lab	93b9381fb3
11:103049922 DYNC2H1 T>A	11	103049922	103049922	T	A	DYNC2H1	c.6307T>A	NM_001377.3	NP_001368.2:p.(Ser2103Thr)	NC_000011.9:g.103049922T>A	VUS	1 lab	93b9ec331b
22:19165805 SLC25A1 C>T	22	19165805	19165805	C	T	SLC25A1	c.95-52G>A	NM_005984.5	NP_005975.1:p.?	NC_000022.10:g.19165805C>T	VUS	1 lab	93b9f4fa56
4:1920021 NSD2 A>C	4	1920021	1920021	A	C	NSD2	c.1081A>C	NM_001042424.3	NP_001035889.1:p.(Lys361Gln)	NC_000004.11:g.1920021A>C	(Likely) benign	1 lab	93b9fe2402
14:31952899 GPR33 G>T	14	31952899	31952899	G	T	GPR33	c.273C>A	NM_001197184.3	NP_001184113.2:p.(Asp91Glu)	NC_000014.8:g.31952899G>T	VUS	1 lab	93ba3df996
11:103091475 DYNC2H1 A>T	11	103091475	103091475	A	T	DYNC2H1	c.9070A>T	NM_001377.3	NP_001368.2:p.(Met3024Leu)	NC_000011.9:g.103091475A>T	VUS	1 lab	93bb6952fe
10:89623919 PTEN C>G	10	89623919	89623919	C	G	PTEN	c.-308C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623919C>G	VUS	1 lab	93bb731529
1:197072148 ASPM C>T	1	197072148	197072148	C	T	ASPM	c.6233G>A	NM_018136.5	NP_060606.3:p.(Arg2078Gln)	NC_000001.10:g.197072148C>T	VUS	1 lab	93bbc441b5
1:6012780 NPHP4 C>T	1	6012780	6012780	C	T	NPHP4	c.790G>A	NM_015102.5	NP_055917.1:p.(Val264Ile)	NC_000001.10:g.6012780C>T	(Likely) benign	1 lab	27af1a6521
15:89872271 POLG C>T	15	89872271	89872271	C	T	POLG	c.926G>A	NM_002693.3	NP_002684.1:p.(Arg309His)	NC_000015.9:g.89872271C>T	VUS	1 lab	93c02948ec
8:23560211 NKX2-6 C>A	8	23560211	23560211	C	A	NKX2-6	c.659G>T	NM_001136271.3	NP_001129743.2:p.(Cys220Phe)	NC_000008.10:g.23560211C>A	VUS	1 lab	93c0deb08e
2:219919942 IHH C>A	2	219919942	219919942	C	A	IHH	c.1223G>T	NM_002181.4	NP_002172.2:p.(Gly408Val)	NC_000002.11:g.219919942C>A	VUS	1 lab	93c2321a78
1:22176941 HSPG2 G>A	1	22176941	22176941	G	A	HSPG2	c.7209C>T	NM_005529.7	NP_005520.4:p.(Gly2403=)	NC_000001.10:g.22176941G>A	VUS	1 lab	93c29ca423
2:79253934 REG3G C>T	2	79253934	79253934	C	T	REG3G	c.172C>T	NM_001008387.3	NP_001008388.1:p.(Pro58Ser)	NC_000002.11:g.79253934C>T	(Likely) benign	1 lab	93c40456da
13:111090399 COL4A2 G>A	13	111090399	111090399	G	A	COL4A2	c.861+15G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111090399G>A	(Likely) benign	1 lab	93c6978548
15:57535685 TCF12 C>G	15	57535685	57535685	C	G	TCF12	c.1051C>G	NM_207037.2	NP_996920.1:p.(His351Asp)	NC_000015.9:g.57535685C>G	VUS	1 lab	93c84f8420
7:12395924 VWDE A>G	7	12395924	12395924	A	G	VWDE	c.3558T>C	NM_001135924.3	NP_001129396.1:p.(Gly1186=)	NC_000007.13:g.12395924A>G	(Likely) benign	1 lab	93c9cf24c9
5:37396536 WDR70 G>A	5	37396536	37396536	G	A	WDR70	c.356G>A	NM_018034.4	NP_060504.1:p.(Gly119Asp)	NC_000005.9:g.37396536G>A	(Likely) benign	1 lab	93c9e0ab0a
11:6651880 DCHS1 T>C	11	6651880	6651880	T	C	DCHS1	c.4145A>G	NM_003737.4	NP_003728.1:p.(Asp1382Gly)	NC_000011.9:g.6651880T>C	VUS	1 lab	93c9f29f89
12:4481866 FGF23 A>T	12	4481866	4481866	A	T	FGF23	c.212-3T>A	NM_020638.3	NP_065689.1:p.?	NC_000012.11:g.4481866A>T	(Likely) benign	1 lab	93cb37d42f
4:122780259 BBS7 T>A	4	122780259	122780259	T	A	BBS7	c.416A>T	NM_176824.3	NP_789794.1:p.(His139Leu)	NC_000004.11:g.122780259T>A	VUS	1 lab	93ccaa408c
4:1807657 FGFR3 C>T	4	1807657	1807657	C	T	FGFR3	c.1826C>T	NM_000142.5	NP_000133.1:p.(Ala609Val)	NC_000004.11:g.1807657C>T	VUS	1 lab	93cda73569
12:52914016 KRT5 G>C	12	52914016	52914016	G	C	KRT5	c.65C>G	NM_000424.4	NP_000415.2:p.(Ala22Gly)	NC_000012.11:g.52914016G>C	VUS	1 lab	93cdbf3ac7
X:36208172 CFAP47 T>G	X	36208172	36208172	T	G	CFAP47	c.6180T>G	NM_001304548.2	NP_001291477.1:p.(Ile2060Met)	NC_000023.10:g.36208172T>G	(Likely) benign	1 lab	93ce4e329a
1:113655146 LRIG2 C>T	1	113655146	113655146	C	T	LRIG2	c.1844C>T	NM_014813.3	NP_055628.1:p.(Thr615Ile)	NC_000001.10:g.113655146C>T	VUS	1 lab	93d13e2844
10:50724761 ERCC6 C>T	10	50724761	50724761	C	T	ERCC6	c.1804G>A	NM_001277058.2	NP_001263987.1:p.(Asp602Asn)	NC_000010.10:g.50724761C>T	VUS	1 lab	260f91b072
12:131620650 ADGRD1 C>T	12	131620650	131620650	C	T	ADGRD1	c.2336C>T	NM_198827.5	NP_942122.2:p.(Ala779Val)	NC_000012.11:g.131620650C>T	(Likely) benign	1 lab	93d2a51588
19:12979552 MAST1 C>T	19	12979552	12979552	C	T	MAST1	c.2662C>T	NM_014975.3	NP_055790.1:p.(Arg888Trp)	NC_000019.9:g.12979552C>T	VUS	1 lab	93d33c1930
5:14288549 TRIO G>A	5	14288549	14288549	G	A	TRIO	c.540+1377G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14288549G>A	(Likely) benign	1 lab	93d5af43f1
X:129147631 BCORL1 G>A	X	129147631	129147631	G	A	BCORL1	c.883G>A	NM_001379451.1	NP_001366380.1:p.(Val295Ile)	NC_000023.10:g.129147631G>A	VUS	1 lab	93d6c2e08a
2:179606557 TTN C>T	2	179606557	179606557	C	T	TTN	c.11403G>A	NM_001267550.2	NP_001254479.2:p.(Leu3801=)	NC_000002.11:g.179606557C>T	(Likely) benign	1 lab	2611be1160
7:1784821 ELFN1 G>A	7	1784821	1784821	G	A	ELFN1	c.589G>A	NM_001128636.4	NP_001122108.1:p.(Glu197Lys)	NC_000007.13:g.1784821G>A	VUS	1 lab	93d8be9dcd
1:233394512 PCNX2 C>T	1	233394512	233394512	C	T	PCNX2	c.1096G>A	NM_014801.4	NP_055616.3:p.(Asp366Asn)	NC_000001.10:g.233394512C>T	(Likely) benign	1 lab	93da05db36
12:106751698 POLR3B A>G	12	106751698	106751698	A	G	POLR3B	c.41A>G	NM_018082.6	NP_060552.4:p.(Glu14Gly)	NC_000012.11:g.106751698A>G	(Likely) benign	1 lab	93da34d7f5
8:72129242 EYA1 T>A	8	72129242	72129242	T	A	EYA1	c.1157A>T	NM_000503.6	NP_000494.2:p.(His386Leu)	NC_000008.10:g.72129242T>A	VUS	1 lab	93deb77020
3:48916844 SLC25A20 C>T	3	48916844	48916844	C	T	SLC25A20	c.364G>A	NM_000387.6	NP_000378.1:p.(Val122Ile)	NC_000003.11:g.48916844C>T	VUS	1 lab	93debd7280
12:52779332 KRT84 C>T	12	52779332	52779332	C	T	KRT84	c.38G>A	NM_033045.4	NP_149034.2:p.(Arg13Gln)	NC_000012.11:g.52779332C>T	(Likely) benign	1 lab	93e21755fa
7:69064757 AUTS2 G>A	7	69064757	69064757	G	A	AUTS2	c.118G>A	NM_015570.4	NP_056385.1:p.(Ala40Thr)	NC_000007.13:g.69064757G>A	(Likely) benign	1 lab	93e22a69d5
18:28913553 DSG1 A>C	18	28913553	28913553	A	C	DSG1	c.686A>C	NM_001942.4	NP_001933.2:p.(Gln229Pro)	NC_000018.9:g.28913553A>C	(Likely) benign	1 lab	93e3ae5902
12:7045783 ATN1 C>G	12	7045783	7045783	C	G	ATN1	c.1353C>G	NM_001940.4	NP_001931.2:p.(Leu451=)	NC_000012.11:g.7045783C>G	(Likely) benign	1 lab	93e3b7de92
3:129198680 IFT122 A>C	3	129198680	129198680	A	C	IFT122	c.1403A>C	NM_052989.3	NP_443715.1:p.(Gln468Pro)	NC_000003.11:g.129198680A>C	VUS	1 lab	93e42879bb
9:94499727 ROR2 T>C	9	94499727	94499727	T	C	ROR2	c.568A>G	NM_004560.4	NP_004551.2:p.(Thr190Ala)	NC_000009.11:g.94499727T>C	VUS	1 lab	93e707b592
X:53112196 TSPYL2 GGAGGAT>G	X	53112196	53112217	GGAGGAT	G	TSPYL2	c.532_537del	NM_022117.4	NP_071400.1:p.(Asp178_Glu179del)	NC_000023.10:g.53112212_53112217del	VUS	1 lab	93e74a140e
12:49689404 PRPH G>T	12	49689404	49689404	G	T	PRPH	c.421G>T	NM_006262.4	NP_006253.2:p.(Asp141Tyr)	NC_000012.11:g.49689404G>T	VUS	1 lab	93e9a079e7
14:35736029 PRORP G>A	14	35736029	35736029	G	A	PRORP	c.1372G>A	NM_014672.4	NP_055487.2:p.(Asp458Asn)	NC_000014.8:g.35736029G>A	VUS	1 lab	93e9abba28
1:19499499 UBR4 G>A	1	19499499	19499499	G	A	UBR4	c.3380C>T	NM_020765.3	NP_065816.2:p.(Ala1127Val)	NC_000001.10:g.19499499G>A	(Likely) benign	1 lab	93e9ffa65a
X:95940127 DIAPH2 A>T	X	95940127	95940127	A	T	DIAPH2	c.70A>T	NM_006729.5	NP_006720.1:p.(Asn24Tyr)	NC_000023.10:g.95940127A>T	VUS	1 lab	93ecd11f02
9:79228295 PRUNE2 T>A	9	79228295	79228295	T	A	PRUNE2	c.*1191A>T	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79228295T>A	(Likely) benign	1 lab	93ed571471
7:100421391 EPHB4 C>T	7	100421391	100421391	C	T	EPHB4	c.286G>A	NM_004444.5	NP_004435.3:p.(Glu96Lys)	NC_000007.13:g.100421391C>T	VUS	1 lab	93eec6144b
11:89768528 TRIM49C T>C	11	89768528	89768528	T	C	TRIM49C	c.149T>C	NM_001195234.1	NP_001182163.1:p.(Val50Ala)	NC_000011.9:g.89768528T>C	VUS	1 lab	93efa77a0f
3:4735290 ITPR1 G>A	3	4735290	4735290	G	A	ITPR1	c.4146G>A	NM_001378452.1	NP_001365381.1:p.(Met1382Ile)	NC_000003.11:g.4735290G>A	VUS	1 lab	93efdcaeb5
6:31827675 NEU1 G>A	6	31827675	31827675	G	A	NEU1	c.1069C>T	NM_000434.4	NP_000425.1:p.(Arg357Trp)	NC_000006.11:g.31827675G>A	VUS	1 lab	93f004de33
16:2155932 PKD1 C>T	16	2155932	2155932	C	T	PKD1	c.7797G>A	NM_001009944.3	NP_001009944.3:p.(Leu2599=)	NC_000016.9:g.2155932C>T	(Likely) benign	1 lab	93f1403759
3:168840462 MECOM T>C	3	168840462	168840462	T	C	MECOM	c.884A>G	NM_004991.4	NP_004982.2:p.(Gln295Arg)	NC_000003.11:g.168840462T>C	VUS	1 lab	93f1909375
3:108373098 DZIP3 G>A	3	108373098	108373098	G	A	DZIP3	c.2140G>A	NM_014648.4	NP_055463.1:p.(Ala714Thr)	NC_000003.11:g.108373098G>A	(Likely) benign	1 lab	93f1d0d696
14:42355986 LRFN5 C>A	14	42355986	42355986	C	A	LRFN5	c.158C>A	NM_152447.5	NP_689660.2:p.(Thr53Asn)	NC_000014.8:g.42355986C>A	VUS	1 lab	93f2215d54
15:79058180 ADAMTS7 C>T	15	79058180	79058180	C	T	ADAMTS7	c.4073G>A	NM_014272.5	NP_055087.2:p.(Gly1358Asp)	NC_000015.9:g.79058180C>T	(Likely) benign	1 lab	93f2c0eed9
22:51143197 SHANK3 G>A	22	51143197	51143197	G	A	SHANK3	c.2028G>A	NM_001372044.2	NP_001358973.1:p.(Thr676=)	NC_000022.10:g.51143197G>A	(Likely) benign	1 lab	93f3bb87f4
4:17609080 LAP3 G>C	4	17609080	17609080	G	C	LAP3	c.1428G>C	NM_015907.3	NP_056991.2:p.(Lys476Asn)	NC_000004.11:g.17609080G>C	VUS	1 lab	93f532cd4f
2:120362534 CFAP221 G>A	2	120362534	120362534	G	A	CFAP221	c.995G>A	NM_001271049.2	NP_001257978.2:p.(Gly332Glu)	NC_000002.11:g.120362534G>A	VUS	1 lab	93f98e4e5e
7:6027225 PMS2 C>A	7	6027225	6027225	C	A	PMS2	c.1171G>T	NM_000535.7	NP_000526.2:p.(Asp391Tyr)	NC_000007.13:g.6027225C>A	VUS	1 lab	93fa19a874
1:898757 KLHL17 G>C	1	898757	898757	G	C	KLHL17	c.1228G>C	NM_198317.3	NP_938073.1:p.(Asp410His)	NC_000001.10:g.898757G>C	VUS	1 lab	93fdf1cae6
16:2810331 SRRM2 C>T	16	2810331	2810331	C	T	SRRM2	c.863C>T	NM_016333.4	NP_057417.3:p.(Thr288Ile)	NC_000016.9:g.2810331C>T	(Likely) benign	1 lab	9400885e07
17:68171482 KCNJ2 G>C	17	68171482	68171482	G	C	KCNJ2	c.302G>C	NM_000891.3	NP_000882.1:p.(Cys101Ser)	NC_000017.10:g.68171482G>C	VUS	1 lab	9400c27599
2:54786034 SPTBN1 C>A	2	54786034	54786034	C	A	SPTBN1	c.148+32331C>A	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54786034C>A	(Likely) benign	1 lab	94014f02c9
8:145007192 PLEC C>G	8	145007192	145007192	C	G	PLEC	c.1506G>C	NM_201384.3	NP_958786.1:p.(Gln502His)	NC_000008.10:g.145007192C>G	(Likely) benign	1 lab	9401d10c8d
15:99439963 IGF1R AT>A	15	99439963	99439973	AT	A	IGF1R	c.954-13del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99439973del	(Likely) benign	1 lab	94042239ce
15:89399984 ACAN G>A	15	89399984	89399984	G	A	ACAN	c.4168G>A	NM_001369268.1	NP_001356197.1:p.(Asp1390Asn)	NC_000015.9:g.89399984G>A	(Likely) benign	1 lab	94059befb5
12:49416497 KMT2D C>T	12	49416497	49416497	C	T	KMT2D	c.16214G>A	NM_003482.4	NP_003473.3:p.(Arg5405His)	NC_000012.11:g.49416497C>T	(Likely) benign	1 lab	9407f18dfc
21:34923899 SON A>G	21	34923899	34923899	A	G	SON	c.2362A>G	NM_138927.4	NP_620305.3:p.(Thr788Ala)	NC_000021.8:g.34923899A>G	(Likely) benign	1 lab	94091f0dc2
15:49030822 CEP152 C>G	15	49030822	49030822	C	G	CEP152	c.4757G>C	NM_001194998.2	NP_001181927.1:p.(Arg1586Pro)	NC_000015.9:g.49030822C>G	(Likely) benign	1 lab	9409273f57
9:131317646 SPTAN1 A>C	9	131317646	131317646	A	C	SPTAN1	c.1A>C	NM_001375312.2	NP_001362241.2:p.(Met1?)	NC_000009.11:g.131317646A>C	VUS	1 lab	2613883fc8
21:47549115 COL6A2 C>A	21	47549115	47549115	C	A	COL6A2	c.2461+2660C>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549115C>A	VUS	1 lab	940a736c5d
17:79031773 BAIAP2 ACCC>A	17	79031773	79031789	ACCC	A	BAIAP2	c.217+20_217+22del	NM_001144888.2	NP_001138360.1:p.?	NC_000017.10:g.79031787_79031789del	(Likely) benign	1 lab	940b05281b
1:240371342 FMN2 C>T	1	240371342	240371342	C	T	FMN2	c.3230C>T	NM_020066.5	NP_064450.3:p.(Pro1077Leu)	NC_000001.10:g.240371342C>T	(Likely) benign	1 lab	940b20378f
15:90173714 KIF7 G>A	15	90173714	90173714	G	A	KIF7	c.3122C>T	NM_198525.3	NP_940927.2:p.(Thr1041Met)	NC_000015.9:g.90173714G>A	VUS	1 lab	940b28b3d3
2:215632227 BARD1 T>C	2	215632227	215632227	T	C	BARD1	c.1547A>G	NM_000465.4	NP_000456.2:p.(Tyr516Cys)	NC_000002.11:g.215632227T>C	VUS	1 lab	940bbbee76
4:1968193 NSD2 T>C	4	1968193	1968193	T	C	NSD2	c.3372+5315T>C	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1968193T>C	(Likely) benign	1 lab	940cef4aec
1:152285302 FLG T>A	1	152285302	152285302	T	A	FLG	c.2060A>T	NM_002016.2	NP_002007.1:p.(Asn687Ile)	NC_000001.10:g.152285302T>A	(Likely) benign	1 lab	940db3a053
17:30310124 SUZ12 G>C	17	30310124	30310124	G	C	SUZ12	c.1023+1G>C	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30310124G>C	(Likely) pathogenic	1 lab	940e4be9b1
16:77334293 ADAMTS18 C>A	16	77334293	77334293	C	A	ADAMTS18	c.2541G>T	NM_199355.4	NP_955387.1:p.(Met847Ile)	NC_000016.9:g.77334293C>A	(Likely) benign	1 lab	9410cd055e
1:245849405 KIF26B C>G	1	245849405	245849405	C	G	KIF26B	c.3120C>G	NM_018012.4	NP_060482.2:p.(Ser1040Arg)	NC_000001.10:g.245849405C>G	VUS	1 lab	94118780c3
9:131600579 KYAT1 G>A	9	131600579	131600579	G	A	KYAT1	c.269C>T	NM_004059.5	NP_004050.3:p.(Pro90Leu)	NC_000009.11:g.131600579G>A	VUS	1 lab	94119481a9
7:44193002 GCK G>A	7	44193002	44193002	G	A	GCK	c.106C>T	NM_000162.5	NP_000153.1:p.(Arg36Trp)	NC_000007.13:g.44193002G>A	(Likely) pathogenic	1 lab	941277e1eb
11:130068943 ST14 G>A	11	130068943	130068943	G	A	ST14	c.1786G>A	NM_021978.4	NP_068813.1:p.(Gly596Ser)	NC_000011.9:g.130068943G>A	VUS	1 lab	94160d188c
4:6303060 WFS1 A>C	4	6303060	6303060	A	C	WFS1	c.1538A>C	NM_006005.3	NP_005996.2:p.(Tyr513Ser)	NC_000004.11:g.6303060A>C	VUS	1 lab	9417922b81
19:8151132 FBN3 C>G	19	8151132	8151132	C	G	FBN3	c.6832G>C	NM_032447.5	NP_115823.3:p.(Asp2278His)	NC_000019.9:g.8151132C>G	VUS	1 lab	941879fe66
6:152470619 SYNE1 C>T	6	152470619	152470619	C	T	SYNE1	c.24635G>A	NM_182961.4	NP_892006.3:p.(Arg8212His)	NC_000006.11:g.152470619C>T	VUS	1 lab	94193f5470
10:103530438 FGF8 C>T	10	103530438	103530438	C	T	FGF8	c.445-62G>A	NM_033163.4	NP_149353.1:p.?	NC_000010.10:g.103530438C>T	(Likely) benign	1 lab	27ba6192e8
X:13641937 EGFL6 T>C	X	13641937	13641937	T	C	EGFL6	c.1184-6T>C	NM_015507.4	NP_056322.2:p.?	NC_000023.10:g.13641937T>C	VUS	1 lab	941cab5a27
8:68214710 ARFGEF1 A>G	8	68214710	68214710	A	G	ARFGEF1	c.125-9T>C	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68214710A>G	(Likely) benign	1 lab	941dcc4f30
17:29586053 NF1 C>A	17	29586053	29586053	C	A	NF1	c.4336C>A	NM_001042492.3	NP_001035957.1:p.(Leu1446Ile)	NC_000017.10:g.29586053C>A	VUS	1 lab	941f2fb10d
X:131526341 MBNL3 A>C	X	131526341	131526341	A	C	MBNL3	c.364T>G	NM_001386889.1	NP_001373818.1:p.(Ser122Ala)	NC_000023.10:g.131526341A>C	(Likely) benign	1 lab	942051056d
14:99958959 CCNK A>G	14	99958959	99958959	A	G	CCNK	c.-52-4A>G	NM_001099402.2	NP_001092872.1:p.?	NC_000014.8:g.99958959A>G	(Likely) benign	1 lab	9420b812cf
17:42991209 GFAP G>A	17	42991209	42991209	G	A	GFAP	c.523-18C>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991209G>A	VUS	1 lab	94217113f3
X:55650343 FOXR2 C>G	X	55650343	55650343	C	G	FOXR2	c.199C>G	NM_198451.4	NP_940853.1:p.(Pro67Ala)	NC_000023.10:g.55650343C>G	(Likely) benign	1 lab	9422d6f43a
7:8008991 GLCCI1 G>GCCT	7	8008991	8009011	G	GCCT	GLCCI1	c.28_30dup	NM_138426.4	NP_612435.1:p.(Ser13dup)	NC_000007.13:g.8009009_8009011dup	(Likely) benign	1 lab	94255ff617
17:61995415 GH1 G>C	17	61995415	61995415	G	C	GH1	c.253C>G	NM_000515.5	NP_000506.2:p.(Pro85Ala)	NC_000017.10:g.61995415G>C	VUS	1 lab	9426a9b152
11:6650907 DCHS1 G>T	11	6650907	6650907	G	T	DCHS1	c.5031C>A	NM_003737.4	NP_003728.1:p.(Asp1677Glu)	NC_000011.9:g.6650907G>T	VUS	1 lab	9427044ed5
6:161032593 LPA C>T	6	161032593	161032593	C	T	LPA	c.2603+1G>A	NM_005577.4	NP_005568.2:p.?	NC_000006.11:g.161032593C>T	VUS	1 lab	9428160b4c
14:64898599 MTHFD1 C>A	14	64898599	64898599	C	A	MTHFD1	c.1494+20C>A	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64898599C>A	(Likely) benign	1 lab	27ba8f96e8
3:167045759 ZBBX T>C	3	167045759	167045759	T	C	ZBBX	c.833A>G	NM_001199201.2	NP_001186130.1:p.(Lys278Arg)	NC_000003.11:g.167045759T>C	(Likely) benign	1 lab	942b67fcab
10:49654625 ARHGAP22 A>G	10	49654625	49654625	A	G	ARHGAP22	c.1906T>C	NM_021226.4	NP_067049.2:p.(Ser636Pro)	NC_000010.10:g.49654625A>G	(Likely) benign	1 lab	942de210e4
2:166229839 SCN2A C>T	2	166229839	166229839	C	T	SCN2A	c.3954C>T	NM_021007.3	NP_066287.2:p.(Ser1318=)	NC_000002.11:g.166229839C>T	(Likely) benign	1 lab	261403ece9
11:18343674 HPS5 A>G	11	18343674	18343674	A	G	HPS5	c.-231T>C	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18343674A>G	(Likely) benign	1 lab	942ee37d61
9:131371235 SPTAN1 G>A	9	131371235	131371235	G	A	SPTAN1	c.4574G>A	NM_001130438.3	NP_001123910.1:p.(Arg1525Gln)	NC_000009.11:g.131371235G>A	(Likely) benign	1 lab	942f7e646b
15:85403122 ALPK3 C>T	15	85403122	85403122	C	T	ALPK3	c.4081C>T	NM_020778.5	NP_065829.4:p.(Leu1361Phe)	NC_000015.9:g.85403122C>T	VUS	1 lab	942fcf55c4
19:17692043 COLGALT1 G>A	19	17692043	17692043	G	A	COLGALT1	c.1659G>A	NM_024656.4	NP_078932.2:p.(Pro553=)	NC_000019.9:g.17692043G>A	(Likely) benign	1 lab	943034826c
18:42532881 SETBP1 C>T	18	42532881	42532881	C	T	SETBP1	c.3576C>T	NM_015559.3	NP_056374.2:p.(Ser1192=)	NC_000018.9:g.42532881C>T	(Likely) benign	1 lab	27bb3e8572
1:212911845 NSL1 T>C	1	212911845	212911845	T	C	NSL1	c.751A>G	NM_015471.4	NP_056286.3:p.(Thr251Ala)	NC_000001.10:g.212911845T>C	(Likely) benign	1 lab	9432a23b2d
19:50823482 KCNC3 C>CG	19	50823482	50823488	C	CG	KCNC3	c.*20dup	NM_004977.3	NP_004968.2:p.?	NC_000019.9:g.50823488dup	VUS	1 lab	9433b9a6c0
17:80394608 HEXD G>A	17	80394608	80394608	G	A	HEXD	c.697G>A	NM_001330542.2	NP_001317471.1:p.(Gly233Ser)	NC_000017.10:g.80394608G>A	(Likely) benign	1 lab	94344c8599
6:110714439 DDO G>A	6	110714439	110714439	G	A	DDO	c.565C>T	NM_001372108.2	NP_001359037.1:p.(Gln189Ter)	NC_000006.11:g.110714439G>A	VUS	1 lab	943f012170
17:80710255 TBCD TGCGTGGGCGGCGCC>T	17	80710255	80710274	TGCGTGGGCGGCGCC	T	TBCD	c.184+8_184+21del	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80710261_80710274del	(Likely) benign	1 lab	9434bc9086
X:69507119 PDZD11 C>T	X	69507119	69507119	C	T	PDZD11	c.388+7G>A	NM_016484.5	NP_057568.1:p.?	NC_000023.10:g.69507119C>T	(Likely) benign	1 lab	9435c58506
13:113772772 F7 G>A	13	113772772	113772772	G	A	F7	c.785G>A	NM_019616.4	NP_062562.1:p.(Arg262Gln)	NC_000013.10:g.113772772G>A	(Likely) benign	1 lab	9435f6ccc2
16:67964623 CTRL ACT>A	16	67964623	67964626	ACT	A	CTRL	c.318+4_318+5del	NM_001907.3	NP_001898.1:p.?	NC_000016.9:g.67964625_67964626del	VUS	1 lab	943638329e
16:2140149 PKD1 CGA>C	16	2140149	2140154	CGA	C	PKD1	c.12489_12490del	NM_001009944.3	NP_001009944.3:p.(Arg4164LeufsTer45)	NC_000016.9:g.2140153_2140154del	(Likely) pathogenic	1 lab	94380d0afc
X:102471371 BEX4 AGCAGATGAG>A	X	102471371	102471383	AGCAGATGAG	A	BEX4	c.294_302del	NM_001080425.4	NP_001073894.1:p.(Gln98_Arg100del)	NC_000023.10:g.102471375_102471383del	VUS	1 lab	9438ec5641
3:183774718 HTR3C C>T	3	183774718	183774718	C	T	HTR3C	c.445C>T	NM_130770.3	NP_570126.2:p.(Arg149Ter)	NC_000003.11:g.183774718C>T	VUS	1 lab	943b4c7b07
21:35122570 ITSN1 C>G	21	35122570	35122570	C	G	ITSN1	c.469C>G	NM_003024.3	NP_003015.2:p.(Pro157Ala)	NC_000021.8:g.35122570C>G	VUS	1 lab	943c3a23b4
5:149776391 TCOF1 A>C	5	149776391	149776391	A	C	TCOF1	c.4331A>C	NM_001371623.1	NP_001358552.1:p.(Lys1444Thr)	NC_000005.9:g.149776391A>C	VUS	1 lab	943dfd2336
1:230390956 GALNT2 C>T	1	230390956	230390956	C	T	GALNT2	c.1010-8C>T	NM_004481.5	NP_004472.1:p.?	NC_000001.10:g.230390956C>T	(Likely) benign	1 lab	9440de4189
12:99225844 ANKS1B T>G	12	99225844	99225844	T	G	ANKS1B	c.2849A>C	NM_001352186.2	NP_001339115.1:p.(Asp950Ala)	NC_000012.11:g.99225844T>G	VUS	1 lab	944197fab3
6:24174990 DCDC2 G>A	6	24174990	24174990	G	A	DCDC2	c.1399C>T	NM_016356.5	NP_057440.2:p.(Gln467Ter)	NC_000006.11:g.24174990G>A	(Likely) pathogenic	1 lab	9442524fce
12:75601544 KCNC2 G>A	12	75601544	75601544	G	A	KCNC2	c.220C>T	NM_139137.4	NP_631875.1:p.(Pro74Ser)	NC_000012.11:g.75601544G>A	(Likely) benign	1 lab	94425318e0
11:694755 DEAF1 TTGCC>T	11	694755	694762	TTGCC	T	DEAF1	c.289_289+3del	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.694759_694762del	VUS	1 lab	9443fdd2bf
17:7592412 WRAP53 C>T	17	7592412	7592412	C	T	WRAP53	c.431+15C>T	NM_018081.2	NP_060551.2:p.?	NC_000017.10:g.7592412C>T	(Likely) benign	1 lab	27bc390460
X:48054289 SSX5 G>A	X	48054289	48054289	G	A	SSX5	c.71C>T	NM_175723.2	NP_783729.1:p.(Ala24Val)	NC_000023.10:g.48054289G>A	(Likely) benign	1 lab	94465a2ba1
3:50337945 HYAL1 G>C	3	50337945	50337945	G	C	HYAL1	c.1277C>G	NM_033159.4	NP_149349.2:p.(Ala426Gly)	NC_000003.11:g.50337945G>C	VUS	1 lab	9449ea559a
14:105243056 AKT1 C>T	14	105243056	105243056	C	T	AKT1	c.227G>A	NM_001382430.1	NP_001369359.1:p.(Arg76His)	NC_000014.8:g.105243056C>T	(Likely) benign	1 lab	944a9ffee5
X:7811940 VCX CCAGGTG>C	X	7811940	7811946	CCAGGTG	C	VCX	c.505_510del	NM_001393662.1	NP_001380591.1:p.(Gln169_Val170del)	NC_000023.10:g.7811941_7811946del	VUS	1 lab	944ba9b34e
16:2153764 PKD1 C>T	16	2153764	2153764	C	T	PKD1	c.8294G>A	NM_001009944.3	NP_001009944.3:p.(Arg2765His)	NC_000016.9:g.2153764C>T	(Likely) benign	1 lab	944bfdd033
12:112036767 ATXN2 C>CTGCTGCTGCTGCTGCTGT	12	112036767	112036782	C	CTGCTGCTGCTGCTGCTGT	ATXN2	c.71_72insACAGCAGCAGCAGCAGCA	NM_001372574.1	NP_001359503.1:p.(Gln23_Gln28dup)	NC_000012.11:g.112036781_112036782insCTGTTGCTGCTGCTGCTG	(Likely) benign	1 lab	944e4bec06
7:103389933 RELN C>T	7	103389933	103389933	C	T	RELN	c.596G>A	NM_005045.4	NP_005036.2:p.(Ser199Asn)	NC_000007.13:g.103389933C>T	(Likely) benign	1 lab	944f1910b4
4:39471750 LIAS C>T	4	39471750	39471750	C	T	LIAS	c.849C>T	NM_006859.4	NP_006850.2:p.(Gly283=)	NC_000004.11:g.39471750C>T	(Likely) benign	1 lab	944ff49842
11:6653277 DCHS1 T>G	11	6653277	6653277	T	G	DCHS1	c.3466A>C	NM_003737.4	NP_003728.1:p.(Ile1156Leu)	NC_000011.9:g.6653277T>G	VUS	1 lab	2620124538
18:10736683 PIEZO2 C>G	18	10736683	10736683	C	G	PIEZO2	c.4734G>C	NM_001378183.1	NP_001365112.1:p.(Leu1578Phe)	NC_000018.9:g.10736683C>G	VUS	1 lab	94511f4acb
4:3495156 DOK7 C>T	4	3495156	3495156	C	T	DOK7	c.1443C>T	NM_173660.5	NP_775931.3:p.(His481=)	NC_000004.11:g.3495156C>T	(Likely) benign	1 lab	9451b7079b
15:78894025 CHRNA3 A>G	15	78894025	78894025	A	G	CHRNA3	c.959T>C	NM_000743.5	NP_000734.2:p.(Val320Ala)	NC_000015.9:g.78894025A>G	VUS	1 lab	9453374786
2:16080854 MYCN A>G	2	16080854	16080854	A	G	MYCN	c.-129A>G	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16080854A>G	VUS	1 lab	9453f2b893
14:96157630 TCL1B T>A	14	96157630	96157630	T	A	TCL1B	c.359T>A	NM_004918.4	NP_004909.1:p.(Leu120Gln)	NC_000014.8:g.96157630T>A	VUS	1 lab	9454225af4
X:129545365 RBMX2 G>A	X	129545365	129545365	G	A	RBMX2	c.347G>A	NM_016024.4	NP_057108.2:p.(Arg116Gln)	NC_000023.10:g.129545365G>A	(Likely) benign	1 lab	9454a668bf
15:45706766 AFG2B C>G	15	45706766	45706766	C	G	AFG2B	c.1435-3C>G	NM_024063.3	NP_076968.2:p.?	NC_000015.9:g.45706766C>G	VUS	1 lab	94556909f4
9:80923438 PSAT1 G>T	9	80923438	80923438	G	T	PSAT1	c.679G>T	NM_058179.4	NP_478059.1:p.(Val227Phe)	NC_000009.11:g.80923438G>T	VUS	1 lab	94557f3eae
7:157175012 DNAJB6 T>G	7	157175012	157175012	T	G	DNAJB6	c.419T>G	NM_058246.4	NP_490647.1:p.(Phe140Cys)	NC_000007.13:g.157175012T>G	(Likely) benign	1 lab	9455a321c6
17:1960573 HIC1 G>T	17	1960573	1960573	G	T	HIC1	c.589G>T	NM_006497.4	NP_006488.2:p.(Ala197Ser)	NC_000017.10:g.1960573G>T	VUS	1 lab	9456223d35
12:52967098 KRT74 A>G	12	52967098	52967098	A	G	KRT74	c.464T>C	NM_175053.4	NP_778223.2:p.(Ile155Thr)	NC_000012.11:g.52967098A>G	VUS	1 lab	94570024e3
14:32034231 NUBPL C>T	14	32034231	32034231	C	T	NUBPL	c.268C>T	NM_025152.3	NP_079428.2:p.(Leu90Phe)	NC_000014.8:g.32034231C>T	(Likely) benign	1 lab	9457e0000a
2:48026828 MSH6 T>C	2	48026828	48026828	T	C	MSH6	c.1706T>C	NM_000179.3	NP_000170.1:p.(Phe569Ser)	NC_000002.11:g.48026828T>C	VUS	1 lab	9458939f1e
15:99465668 IGF1R A>T	15	99465668	99465668	A	T	IGF1R	c.2485+8A>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99465668A>T	VUS	1 lab	9458f1815f
5:168671777 SLIT3 A>T	5	168671777	168671777	A	T	SLIT3	c.273T>A	NM_003062.4	NP_003053.2:p.(His91Gln)	NC_000005.9:g.168671777A>T	VUS	1 lab	9459eb0080
3:184618727 VPS8 G>T	3	184618727	184618727	G	T	VPS8	c.2113G>T	NM_001009921.3	NP_001009921.1:p.(Ala705Ser)	NC_000003.11:g.184618727G>T	(Likely) benign	1 lab	945ab6cd52
1:22186321 HSPG2 T>C	1	22186321	22186321	T	C	HSPG2	c.5182+7A>G	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22186321T>C	VUS	1 lab	945dd89a2d
8:61693838 CHD7 G>A	8	61693838	61693838	G	A	CHD7	c.1945G>A	NM_017780.4	NP_060250.2:p.(Ala649Thr)	NC_000008.10:g.61693838G>A	(Likely) benign	1 lab	945fae60fb
8:11995475 USP17L2 C>G	8	11995475	11995475	C	G	USP17L2	c.795G>C	NM_201402.3	NP_958804.2:p.(Lys265Asn)	NC_000008.10:g.11995475C>G	(Likely) benign	1 lab	945ff11aa2
X:69282652 OTUD6A A>G	X	69282652	69282652	A	G	OTUD6A	c.278A>G	NM_207320.3	NP_997203.1:p.(Lys93Arg)	NC_000023.10:g.69282652A>G	(Likely) benign	1 lab	9461aa6345
8:17132462 VPS37A A>G	8	17132462	17132462	A	G	VPS37A	c.637A>G	NM_152415.3	NP_689628.2:p.(Ile213Val)	NC_000008.10:g.17132462A>G	(Likely) benign	1 lab	27c019f2a5
12:102869410 IGF1 G>C	12	102869410	102869410	G	C	IGF1	c.220+11C>G	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102869410G>C	(Likely) benign	1 lab	9463fb6ae6
1:152277794 FLG C>T	1	152277794	152277794	C	T	FLG	c.9568G>A	NM_002016.2	NP_002007.1:p.(Asp3190Asn)	NC_000001.10:g.152277794C>T	(Likely) benign	1 lab	9465469962
1:1412723 ATAD3B A>G	1	1412723	1412723	A	G	ATAD3B	c.275A>G	NM_031921.6	NP_114127.3:p.(Lys92Arg)	NC_000001.10:g.1412723A>G	(Likely) benign	1 lab	26255110c4
12:115109987 TBX3 G>T	12	115109987	115109987	G	T	TBX3	c.1831C>A	NM_005996.4	NP_005987.3:p.(Leu611Met)	NC_000012.11:g.115109987G>T	(Likely) benign	1 lab	94667cb37a
15:91479662 UNC45A G>A	15	91479662	91479662	G	A	UNC45A	c.398G>A	NM_018671.5	NP_061141.2:p.(Arg133Gln)	NC_000015.9:g.91479662G>A	VUS	1 lab	9466feff17
7:138968397 UBN2 G>A	7	138968397	138968397	G	A	UBN2	c.2746G>A	NM_173569.4	NP_775840.3:p.(Glu916Lys)	NC_000007.13:g.138968397G>A	(Likely) benign	1 lab	9467c30a04
20:61467282 COL9A3 G>A	20	61467282	61467282	G	A	COL9A3	c.1378G>A	NM_001853.4	NP_001844.3:p.(Gly460Ser)	NC_000020.10:g.61467282G>A	VUS	1 lab	9468e75c07
3:183884780 DVL3 G>A	3	183884780	183884780	G	A	DVL3	c.1198+17G>A	NM_004423.4	NP_004414.3:p.?	NC_000003.11:g.183884780G>A	(Likely) benign	1 lab	27c0658789
19:18899139 COMP G>A	19	18899139	18899139	G	A	COMP	c.868-11C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899139G>A	(Likely) benign	1 lab	9469eb6e72
16:68379571 PRMT7 G>A	16	68379571	68379571	G	A	PRMT7	c.928-7G>A	NM_019023.5	NP_061896.1:p.?	NC_000016.9:g.68379571G>A	(Likely) benign	1 lab	946a5ff49e
16:1841892 IGFALS T>C	16	1841892	1841892	T	C	IGFALS	c.527A>G	NM_004970.3	NP_004961.1:p.(Asn176Ser)	NC_000016.9:g.1841892T>C	VUS	1 lab	946b953228
3:113497631 ATP6V1A G>A	3	113497631	113497631	G	A	ATP6V1A	c.31G>A	NM_001690.4	NP_001681.2:p.(Asp11Asn)	NC_000003.11:g.113497631G>A	VUS	1 lab	946c09a87e
4:77818666 SOWAHB C>T	4	77818666	77818666	C	T	SOWAHB	c.337G>A	NM_001029870.3	NP_001025041.1:p.(Gly113Arg)	NC_000004.11:g.77818666C>T	VUS	1 lab	947186f30d
16:2140190 PKD1 G>GCGTT	16	2140190	2140193	G	GCGTT	PKD1	c.12449_12450insAACG	NM_001009944.3	NP_001009944.3:p.(His4151ThrfsTer7)	NC_000016.9:g.2140192_2140193insTTCG	(Likely) pathogenic	1 lab	947295662e
1:16262399 SPEN G>C	1	16262399	16262399	G	C	SPEN	c.9664G>C	NM_015001.3	NP_055816.2:p.(Ala3222Pro)	NC_000001.10:g.16262399G>C	(Likely) benign	1 lab	9472b1ff8a
10:46322221 AGAP4 T>A	10	46322221	46322221	T	A	AGAP4	c.1203A>T	NM_001276343.3	NP_001263272.2:p.(Lys401Asn)	NC_000010.10:g.46322221T>A	(Likely) benign	1 lab	9473900d6b
16:30975602 SETD1A G>A	16	30975602	30975602	G	A	SETD1A	c.827G>A	NM_014712.3	NP_055527.1:p.(Arg276Gln)	NC_000016.9:g.30975602G>A	VUS	1 lab	262c0a374d
16:685313 METTL26 G>A	16	685313	685313	G	A	METTL26	c.388C>T	NM_032366.5	NP_115742.3:p.(Leu130Phe)	NC_000016.9:g.685313G>A	VUS	1 lab	9474a2c39b
3:4738868 ITPR1 A>T	3	4738868	4738868	A	T	ITPR1	c.4319A>T	NM_001378452.1	NP_001365381.1:p.(Tyr1440Phe)	NC_000003.11:g.4738868A>T	VUS	1 lab	9474e061a5
7:56088791 PSPH C>T	7	56088791	56088791	C	T	PSPH	c.115G>A	NM_004577.4	NP_004568.2:p.(Gly39Ser)	NC_000007.13:g.56088791C>T	VUS	1 lab	9475b2e1ef
13:78202119 SCEL C>T	13	78202119	78202119	C	T	SCEL	c.1666C>T	NM_144777.3	NP_659001.2:p.(His556Tyr)	NC_000013.10:g.78202119C>T	(Likely) benign	1 lab	9475ff0208
11:11964568 USP47 T>A	11	11964568	11964568	T	A	USP47	c.3000T>A	NM_001282659.2	NP_001269588.1:p.(Asp1000Glu)	NC_000011.9:g.11964568T>A	VUS	1 lab	947622a084
2:27460930 CAD G>A	2	27460930	27460930	G	A	CAD	c.4735G>A	NM_004341.5	NP_004332.2:p.(Glu1579Lys)	NC_000002.11:g.27460930G>A	VUS	1 lab	94777bdada
10:89622196 KLLN C>T	10	89622196	89622196	C	T	KLLN	c.49G>A	NM_001126049.2	NP_001119521.1:p.(Val17Ile)	NC_000010.10:g.89622196C>T	VUS	1 lab	94779ac5ad
22:37494484 TMPRSS6 C>A	22	37494484	37494484	C	A	TMPRSS6	c.308G>T	NM_001374504.1	NP_001361433.1:p.(Arg103Leu)	NC_000022.10:g.37494484C>A	VUS	1 lab	947868e40b
X:7870154 PNPLA4 G>A	X	7870154	7870154	G	A	PNPLA4	c.506C>T	NM_004650.3	NP_004641.1:p.(Ala169Val)	NC_000023.10:g.7870154G>A	(Likely) benign	1 lab	94791389c0
1:225465157 DNAH14 A>G	1	225465157	225465157	A	G	DNAH14	c.8224A>G	NM_001367479.1	NP_001354408.1:p.(Ile2742Val)	NC_000001.10:g.225465157A>G	VUS	1 lab	947a6364ec
2:220077186 ABCB6 T>C	2	220077186	220077186	T	C	ABCB6	c.1891A>G	NM_005689.4	NP_005680.1:p.(Thr631Ala)	NC_000002.11:g.220077186T>C	VUS	1 lab	947bb1435a
9:98218623 PTCH1 C>T	9	98218623	98218623	C	T	PTCH1	c.3241G>A	NM_000264.5	NP_000255.2:p.(Val1081Met)	NC_000009.11:g.98218623C>T	(Likely) benign	1 lab	947ca7dd8b
9:87636620 NTRK2 T>C	9	87636620	87636620	T	C	NTRK2	c.*268T>C	NM_006180.6	NP_006171.2:p.?	NC_000009.11:g.87636620T>C	VUS	1 lab	947fb7bec4
14:78709688 NRXN3 C>T	14	78709688	78709688	C	T	NRXN3	c.252C>T	NM_001330195.2	NP_001317124.1:p.(Arg84=)	NC_000014.8:g.78709688C>T	(Likely) benign	1 lab	948040eed0
11:71174473 NADSYN1 T>G	11	71174473	71174473	T	G	NADSYN1	c.264-5T>G	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71174473T>G	(Likely) benign	1 lab	9482dc2944
10:43622085 RET A>G	10	43622085	43622085	A	G	RET	c.3102A>G	NM_020975.6	NP_066124.1:p.(Ser1034=)	NC_000010.10:g.43622085A>G	(Likely) benign	1 lab	948487cffe
12:2788658 CACNA1C G>A	12	2788658	2788658	G	A	CACNA1C	c.5140G>A	NM_000719.7	NP_000710.5:p.(Gly1714Ser)	NC_000012.11:g.2788658G>A	VUS	1 lab	9486a589f4
20:4893577 SLC23A2 C>CCGTA	20	4893577	4893578	C	CCGTA	SLC23A2	c.155_156insTACG	NM_005116.6	NP_005107.4:p.(Glu52AspfsTer5)	NC_000020.10:g.4893577_4893578insCGTA	(Likely) benign	1 lab	94873bb6d0
5:37243203 CPLANE1 G>A	5	37243203	37243203	G	A	CPLANE1	c.589C>T	NM_001384732.1	NP_001371661.1:p.(Leu197=)	NC_000005.9:g.37243203G>A	VUS	1 lab	94881f2add
14:74004208 ACOT1 C>G	14	74004208	74004208	C	G	ACOT1	c.83C>G	NM_001037161.2	NP_001032238.1:p.(Pro28Arg)	NC_000014.8:g.74004208C>G	VUS	1 lab	94887bed92
8:144996656 PLEC G>A	8	144996656	144996656	G	A	PLEC	c.7425+16C>T	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.144996656G>A	(Likely) benign	1 lab	9488d96d6d
20:21687460 PAX1 A>G	20	21687460	21687460	A	G	PAX1	c.671A>G	NM_001257096.2	NP_001244025.1:p.(Lys224Arg)	NC_000020.10:g.21687460A>G	VUS	1 lab	9489afdc2e
2:228111456 COL4A3 T>C	2	228111456	228111456	T	C	COL4A3	c.441+2T>C	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228111456T>C	(Likely) pathogenic	1 lab	9489fdf9b3
16:71094569 HYDIN G>A	16	71094569	71094569	G	A	HYDIN	c.2377-10C>T	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71094569G>A	(Likely) benign	1 lab	948aaef446
18:42530821 SETBP1 C>G	18	42530821	42530821	C	G	SETBP1	c.1516C>G	NM_015559.3	NP_056374.2:p.(Pro506Ala)	NC_000018.9:g.42530821C>G	(Likely) benign	1 lab	948b908947
19:14862248 ADGRE2 C>T	19	14862248	14862248	C	T	ADGRE2	c.2024G>A	NM_013447.4	NP_038475.2:p.(Arg675His)	NC_000019.9:g.14862248C>T	(Likely) benign	1 lab	948d924525
3:33118737 GLB1 C>A	3	33118737	33118737	C	A	GLB1	c.76-4532G>T	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33118737C>A	VUS	1 lab	948dc19402
2:234545928 UGT1A10 C>T	2	234545928	234545928	C	T	UGT1A10	c.760C>T	NM_019075.4	NP_061948.1:p.(Arg254Ter)	NC_000002.11:g.234545928C>T	VUS	1 lab	94904befed
20:61477100 TCFL5 G>A	20	61477100	61477100	G	A	TCFL5	c.1381-3651C>T	NM_006602.4	NP_006593.2:p.?	NC_000020.10:g.61477100G>A	VUS	1 lab	9492d8af67
9:130982583 DNM1 G>A	9	130982583	130982583	G	A	DNM1	c.812G>A	NM_004408.4	NP_004399.2:p.(Arg271His)	NC_000009.11:g.130982583G>A	VUS	1 lab	9493ff843b
21:45929263 TSPEAR C>G	21	45929263	45929263	C	G	TSPEAR	c.1573G>C	NM_144991.3	NP_659428.2:p.(Gly525Arg)	NC_000021.8:g.45929263C>G	VUS	1 lab	94948b2991
2:47690295 MSH2 T>C	2	47690295	47690295	T	C	MSH2	c.1510+2T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47690295T>C	(Likely) pathogenic	1 lab	94962b4cdb
2:152554088 NEB G>A	2	152554088	152554088	G	A	NEB	c.1227C>T	NM_001164508.2	NP_001157980.2:p.(Leu409=)	NC_000002.11:g.152554088G>A	(Likely) benign	1 lab	94973fd42c
1:40756631 ZMPSTE24 T>C	1	40756631	40756631	T	C	ZMPSTE24				NC_000001.10:g.40756631T>C	(Likely) benign	1 lab	27c385594a
5:1255538 TERT G>A	5	1255538	1255538	G	A	TERT	c.3033-12C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1255538G>A	(Likely) benign	1 lab	94984ecd8d
4:26388000 RBPJ A>G	4	26388000	26388000	A	G	RBPJ	c.46A>G	NM_015874.6	NP_056958.3:p.(Lys16Glu)	NC_000004.11:g.26388000A>G	(Likely) benign	1 lab	949a2127b7
19:52115500 SIGLEC5 A>G	19	52115500	52115500	A	G	SIGLEC5	c.1640T>C	NM_003830.4	NP_003821.1:p.(Ile547Thr)	NC_000019.9:g.52115500A>G	(Likely) benign	1 lab	949af36436
19:15288376 NOTCH3 T>TGTC	19	15288376	15288381	T	TGTC	NOTCH3	c.4360_4362dup	NM_000435.3	NP_000426.2:p.(Asp1454dup)	NC_000019.9:g.15288379_15288381dup	VUS	1 lab	949b67ef8c
X:123499618 SH2D1A G>A	X	123499618	123499618	G	A	SH2D1A	c.145G>A	NM_002351.5	NP_002342.1:p.(Gly49Ser)	NC_000023.10:g.123499618G>A	VUS	1 lab	949bb03a44
14:102452478 DYNC1H1 G>A	14	102452478	102452478	G	A	DYNC1H1	c.1916G>A	NM_001376.5	NP_001367.2:p.(Arg639His)	NC_000014.8:g.102452478G>A	(Likely) benign	1 lab	949e73d7d0
2:152528890 NEB T>C	2	152528890	152528890	T	C	NEB	c.4292A>G	NM_001164508.2	NP_001157980.2:p.(Gln1431Arg)	NC_000002.11:g.152528890T>C	VUS	1 lab	949ed1610c
19:7143042 INSR G>A	19	7143042	7143042	G	A	INSR	c.2327C>T	NM_000208.4	NP_000199.2:p.(Thr776Met)	NC_000019.9:g.7143042G>A	VUS	1 lab	949eea769e
20:31376762 DNMT3B C>G	20	31376762	31376762	C	G	DNMT3B	c.757C>G	NM_006892.4	NP_008823.1:p.(Gln253Glu)	NC_000020.10:g.31376762C>G	VUS	1 lab	94a23b7902
2:157369961 GPD2 C>T	2	157369961	157369961	C	T	GPD2	c.614C>T	NM_000408.5	NP_000399.3:p.(Pro205Leu)	NC_000002.11:g.157369961C>T	VUS	1 lab	94a2a77634
17:40362188 STAT5B C>T	17	40362188	40362188	C	T	STAT5B	c.1906+1G>A	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40362188C>T	(Likely) pathogenic	1 lab	94a2bae779
16:88504604 ZNF469 G>C	16	88504604	88504604	G	C	ZNF469	c.10726G>C	NM_001367624.2	NP_001354553.1:p.(Glu3576Gln)	NC_000016.9:g.88504604G>C	VUS	1 lab	94a2e090e9
12:21995320 ABCC9 A>C	12	21995320	21995320	A	C	ABCC9	c.3401T>G	NM_020297.4	NP_064693.2:p.(Val1134Gly)	NC_000012.11:g.21995320A>C	(Likely) benign	1 lab	94a334796f
12:111731300 CUX2 C>T	12	111731300	111731300	C	T	CUX2	c.487C>T	NM_015267.4	NP_056082.2:p.(Arg163Cys)	NC_000012.11:g.111731300C>T	(Likely) benign	1 lab	94a3724973
X:64744494 LAS1L T>A	X	64744494	64744494	T	A	LAS1L	c.1043A>T	NM_031206.7	NP_112483.1:p.(Asp348Val)	NC_000023.10:g.64744494T>A	VUS	1 lab	94a556b3d0
8:28574692 EXTL3 C>T	8	28574692	28574692	C	T	EXTL3	c.1116C>T	NM_001440.4	NP_001431.1:p.(Pro372=)	NC_000008.10:g.28574692C>T	(Likely) benign	1 lab	27c630cdc0
16:55536723 MMP2 G>T	16	55536723	55536723	G	T	MMP2	c.1802G>T	NM_004530.6	NP_004521.1:p.(Gly601Val)	NC_000016.9:g.55536723G>T	(Likely) benign	1 lab	94a6f1fd3c
9:139324179 INPP5E C>T	9	139324179	139324179	C	T	INPP5E	c.1883G>A	NM_019892.6	NP_063945.2:p.(Arg628Lys)	NC_000009.11:g.139324179C>T	VUS	1 lab	94aaf3cb58
15:89866712 POLG G>T	15	89866712	89866712	G	T	POLG	c.2188C>A	NM_002693.3	NP_002684.1:p.(Pro730Thr)	NC_000015.9:g.89866712G>T	VUS	1 lab	94ae1425f9
6:5267676 FARS2 A>G	6	5267676	5267676	A	G	FARS2	c.-22+5783A>G	NM_006567.5	NP_006558.1:p.?	NC_000006.11:g.5267676A>G	(Likely) benign	1 lab	94ae96510b
17:78059902 CCDC40 G>A	17	78059902	78059902	G	A	CCDC40	c.2336G>A	NM_017950.4	NP_060420.2:p.(Arg779His)	NC_000017.10:g.78059902G>A	VUS	1 lab	94af4f8fd9
16:69363024 PDF G>A	16	69363024	69363024	G	A	PDF	c.633C>T	NM_022341.2	NP_071736.1:p.(Ile211=)	NC_000016.9:g.69363024G>A	VUS	1 lab	94b00223af
11:17482222 ABCC8 C>T	11	17482222	17482222	C	T	ABCC8	c.824G>A	NM_000352.6	NP_000343.2:p.(Arg275Gln)	NC_000011.9:g.17482222C>T	(Likely) benign	1 lab	94b07268db
X:70627998 TAF1 A>G	X	70627998	70627998	A	G	TAF1	c.4381A>G	NM_004606.5	NP_004597.3:p.(Asn1461Asp)	NC_000023.10:g.70627998A>G	(Likely) pathogenic	1 lab	94b2ee1f5d
4:167020471 TLL1 T>A	4	167020471	167020471	T	A	TLL1	c.2699T>A	NM_012464.5	NP_036596.3:p.(Leu900Gln)	NC_000004.11:g.167020471T>A	VUS	1 lab	94b36729e1
15:48500089 SLC12A1 T>C	15	48500089	48500089	T	C	SLC12A1	c.173T>C	NM_000338.3	NP_000329.2:p.(Leu58Pro)	NC_000015.9:g.48500089T>C	VUS	1 lab	94b3f69c0f
X:122801126 THOC2 G>A	X	122801126	122801126	G	A	THOC2	c.1021C>T	NM_001081550.2	NP_001075019.1:p.(Pro341Ser)	NC_000023.10:g.122801126G>A	(Likely) benign	1 lab	94b454abcd
18:20573103 RBBP8 AATC>A	18	20573103	20573108	AATC	A	RBBP8	c.1316_1318del	NM_002894.3	NP_002885.1:p.(Ser439del)	NC_000018.9:g.20573106_20573108del	(Likely) benign	1 lab	94b46768b5
6:30889403 VARS2 C>A	6	30889403	30889403	C	A	VARS2	c.1670C>A	NM_020442.6	NP_065175.4:p.(Ala557Asp)	NC_000006.11:g.30889403C>A	(Likely) benign	1 lab	94b570d71b
1:985307 AGRN GCCCCTGCCAGCCCAA>G	1	985307	985331	GCCCCTGCCAGCCCAA	G	AGRN	c.4779_4793del	NM_198576.4	NP_940978.2:p.(Gln1593_Cys1597del)	NC_000001.10:g.985317_985331del	VUS	1 lab	94b71fb9a9
X:151131117 GABRE T>C	X	151131117	151131117	T	C	GABRE	c.343-2A>G	NM_004961.4	NP_004952.2:p.?	NC_000023.10:g.151131117T>C	VUS	1 lab	94b7de0c29
X:31697517 DMD A>T	X	31697517	31697517	A	T	DMD	c.7847T>A	NM_004006.3	NP_003997.2:p.(Ile2616Asn)	NC_000023.10:g.31697517A>T	VUS	1 lab	94b95d9bb0
9:140637821 EHMT1 A>T	9	140637821	140637821	A	T	EHMT1	c.824-2A>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140637821A>T	(Likely) benign	1 lab	94ba9dd66b
2:179639132 TTN C>G	2	179639132	179639132	C	G	TTN	c.6859G>C	NM_001267550.2	NP_001254479.2:p.(Glu2287Gln)	NC_000002.11:g.179639132C>G	VUS	1 lab	94bb2634dd
20:62321484 RTEL1 G>A	20	62321484	62321484	G	A	RTEL1	c.2186G>A	NM_001283009.2	NP_001269938.1:p.(Arg729His)	NC_000020.10:g.62321484G>A	VUS	1 lab	94bb316dfc
1:162722896 DDR2 T>C	1	162722896	162722896	T	C	DDR2	c.94T>C	NM_006182.4	NP_006173.2:p.(Tyr32His)	NC_000001.10:g.162722896T>C	VUS	1 lab	94bc03980a
11:31828830 PAX6 A>AGT	11	31828830	31828832	A	AGT	PAX6	c.-128-358_-128-357insAC	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31828831_31828832insTG	(Likely) benign	1 lab	94be15ac89
9:26913868 PLAA A>C	9	26913868	26913868	A	C	PLAA	c.1555+9T>G	NM_001031689.3	NP_001026859.1:p.?	NC_000009.11:g.26913868A>C	(Likely) benign	1 lab	94be85be7e
2:227895261 COL4A4 G>C	2	227895261	227895261	G	C	COL4A4	c.3871C>G	NM_000092.4	NP_000083.3:p.(Pro1291Ala)	NC_000002.11:g.227895261G>C	(Likely) benign	1 lab	27ca33cea0
3:132379880 UBA5 T>A	3	132379880	132379880	T	A	UBA5	c.15T>A	NM_001321238.1	NP_001308167.1:p.(Ile5=)	NC_000003.11:g.132379880T>A	(Likely) benign	1 lab	27d083d214
22:21088382 PI4KA C>T	22	21088382	21088382	C	T	PI4KA	c.4001G>A	NM_058004.4	NP_477352.3:p.(Gly1334Glu)	NC_000022.10:g.21088382C>T	VUS	1 lab	94c02fabad
4:126238858 FAT4 T>TC	4	126238858	126238861	T	TC	FAT4	c.1295dup	NM_001291303.3	NP_001278232.1:p.(Ser433PhefsTer10)	NC_000004.11:g.126238861dup	VUS	1 lab	94c0581ad2
1:176668719 PAPPA2 C>T	1	176668719	176668719	C	T	PAPPA2	c.3230C>T	NM_020318.3	NP_064714.2:p.(Thr1077Met)	NC_000001.10:g.176668719C>T	(Likely) benign	1 lab	94c2950ba1
10:81319267 SFTPA2 C>T	10	81319267	81319267	C	T	SFTPA2	c.-23-5G>A	NM_001098668.4	NP_001092138.1:p.?	NC_000010.10:g.81319267C>T	(Likely) benign	1 lab	262d22ffa9
7:6194729 USP42 G>A	7	6194729	6194729	G	A	USP42	c.3544G>A	NM_032172.3	NP_115548.1:p.(Glu1182Lys)	NC_000007.13:g.6194729G>A	(Likely) benign	1 lab	94c43be866
5:132232082 AFF4 T>C	5	132232082	132232082	T	C	AFF4	c.2240A>G	NM_014423.4	NP_055238.1:p.(Lys747Arg)	NC_000005.9:g.132232082T>C	VUS	1 lab	94c4566754
7:38857895 VPS41 T>G	7	38857895	38857895	T	G	VPS41	c.385-413A>C	NM_014396.4	NP_055211.2:p.?	NC_000007.13:g.38857895T>G	(Likely) benign	1 lab	94c4a7c651
2:1896243 MYT1L C>G	2	1896243	1896243	C	G	MYT1L	c.2033-184G>C	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1896243C>G	(Likely) benign	1 lab	94c4e35cb2
19:46915034 CCDC8 GCCCTCTGATTATCTGCAGCCTCTT>G	19	46915034	46915081	GCCCTCTGATTATCTGCAGCCTCTT	G	CCDC8	c.1010_1033del	NM_032040.5	NP_114429.2:p.(Glu337_Arg344del)	NC_000019.9:g.46915058_46915081del	(Likely) benign	1 lab	94c52a713e
17:61994864 GH1 C>T	17	61994864	61994864	C	T	GH1	c.459G>A	NM_000515.5	NP_000506.2:p.(Arg153=)	NC_000017.10:g.61994864C>T	(Likely) benign	1 lab	94c5616a1d
7:106876963 COG5 G>A	7	106876963	106876963	G	A	COG5	c.2023C>T	NM_006348.5	NP_006339.4:p.(Arg675Cys)	NC_000007.13:g.106876963G>A	VUS	1 lab	94c648dd65
10:75849809 VCL C>T	10	75849809	75849809	C	T	VCL	c.1205C>T	NM_014000.3	NP_054706.1:p.(Pro402Leu)	NC_000010.10:g.75849809C>T	(Likely) benign	1 lab	94c72ce9a3
19:15284890 NOTCH3 G>T	19	15284890	15284890	G	T	NOTCH3	c.4725C>A	NM_000435.3	NP_000426.2:p.(Pro1575=)	NC_000019.9:g.15284890G>T	(Likely) benign	1 lab	94c7ab38f1
17:10430076 MYH2 G>C	17	10430076	10430076	G	C	MYH2	c.4027C>G	NM_017534.6	NP_060004.3:p.(Arg1343Gly)	NC_000017.10:g.10430076G>C	VUS	1 lab	94c7c113b7
7:83739903 SEMA3A T>C	7	83739903	83739903	T	C	SEMA3A	c.336A>G	NM_006080.3	NP_006071.1:p.(Lys112=)	NC_000007.13:g.83739903T>C	(Likely) benign	1 lab	94c870986b
16:89167486 ACSF3 C>A	16	89167486	89167486	C	A	ACSF3	c.397C>A	NM_001243279.3	NP_001230208.1:p.(Gln133Lys)	NC_000016.9:g.89167486C>A	VUS	1 lab	94c8a0faf1
17:36099614 HNF1B C>T	17	36099614	36099614	C	T	HNF1B	c.361G>A	NM_000458.4	NP_000449.1:p.(Ala121Thr)	NC_000017.10:g.36099614C>T	VUS	1 lab	94c95ce07f
11:126147444 FOXRED1 G>A	11	126147444	126147444	G	A	FOXRED1	c.1321G>A	NM_017547.4	NP_060017.1:p.(Gly441Arg)	NC_000011.9:g.126147444G>A	VUS	1 lab	94cb4129db
20:10620250 JAG1 G>A	20	10620250	10620250	G	A	JAG1	c.3553C>T	NM_000214.3	NP_000205.1:p.(Pro1185Ser)	NC_000020.10:g.10620250G>A	VUS	1 lab	94cb6bc37c
1:150776620 CTSK C>G	1	150776620	150776620	C	G	CTSK	c.495G>C	NM_000396.4	NP_000387.1:p.(Gln165His)	NC_000001.10:g.150776620C>G	VUS	1 lab	94cc949f74
19:15291806 NOTCH3 G>C	19	15291806	15291806	G	C	NOTCH3	c.2960C>G	NM_000435.3	NP_000426.2:p.(Thr987Ser)	NC_000019.9:g.15291806G>C	(Likely) benign	1 lab	94cf5d6df3
21:45750380 CFAP410 G>A	21	45750380	45750380	G	A	CFAP410	c.643-171C>T	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45750380G>A	(Likely) benign	1 lab	94cfd301b0
X:77913414 RTL3 C>G	X	77913414	77913414	C	G	RTL3	c.504G>C	NM_152694.3	NP_689907.1:p.(Gln168His)	NC_000023.10:g.77913414C>G	(Likely) benign	1 lab	94d23e4689
13:39451289 FREM2 C>T	13	39451289	39451289	C	T	FREM2	c.8580C>T	NM_207361.6	NP_997244.4:p.(Asn2860=)	NC_000013.10:g.39451289C>T	(Likely) benign	1 lab	27d0e9bd0f
11:6585902 DNHD1 C>T	11	6585902	6585902	C	T	DNHD1	c.10624C>T	NM_144666.3	NP_653267.2:p.(Arg3542Ter)	NC_000011.9:g.6585902C>T	VUS	1 lab	94d7deba1f
2:121709011 GLI2 C>G	2	121709011	121709011	C	G	GLI2	c.447C>G	NM_001374353.1	NP_001361282.1:p.(Ser149Arg)	NC_000002.11:g.121709011C>G	VUS	1 lab	94d8199161
6:26156993 H1-4 G>T	6	26156993	26156993	G	T	H1-4	c.375G>T	NM_005321.3	NP_005312.1:p.(Ala125=)	NC_000006.11:g.26156993G>T	(Likely) benign	1 lab	94d8a2f2a4
14:30066920 PRKD1 CTT>C	14	30066920	30066922	CTT	C	PRKD1	c.2209_2210del	NM_002742.3	NP_002733.2:p.(Lys737ValfsTer16)	NC_000014.8:g.30066921_30066922del	VUS	1 lab	94ddc070c3
3:97592970 CRYBG3 A>C	3	97592970	97592970	A	C	CRYBG3	c.2932A>C	NM_153605.4	NP_705833.3:p.(Lys978Gln)	NC_000003.11:g.97592970A>C	VUS	1 lab	94dde43eba
18:42530515 SETBP1 A>G	18	42530515	42530515	A	G	SETBP1	c.1210A>G	NM_015559.3	NP_056374.2:p.(Ile404Val)	NC_000018.9:g.42530515A>G	(Likely) benign	1 lab	94de02fe98
1:24483696 IFNLR1 G>A	1	24483696	24483696	G	A	IFNLR1	c.1487C>T	NM_170743.4	NP_734464.1:p.(Ala496Val)	NC_000001.10:g.24483696G>A	(Likely) benign	1 lab	94e17ce80e
19:50139880 RRAS C>T	19	50139880	50139880	C	T	RRAS	c.449G>A	NM_006270.5	NP_006261.1:p.(Arg150His)	NC_000019.9:g.50139880C>T	VUS	1 lab	94e1865f41
2:197135476 HECW2 G>GT	2	197135476	197135477	G	GT	HECW2	c.3335+440dup	NM_001348768.2	NP_001335697.1:p.?	NC_000002.11:g.197135477dup	(Likely) benign	1 lab	94e1b72036
16:83949045 MLYCD A>G	16	83949045	83949045	A	G	MLYCD	c.1433A>G	NM_012213.3	NP_036345.2:p.(Glu478Gly)	NC_000016.9:g.83949045A>G	VUS	1 lab	94e28148d7
18:29617087 RNF125 G>A	18	29617087	29617087	G	A	RNF125	c.173G>A	NM_017831.4	NP_060301.2:p.(Arg58His)	NC_000018.9:g.29617087G>A	(Likely) benign	1 lab	94e5304f73
1:45805564 MUTYH C>T	1	45805564	45805564	C	T	MUTYH	c.-7+7G>A	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45805564C>T	(Likely) benign	1 lab	94e5f202ff
6:33756210 LEMD2 G>C	6	33756210	33756210	G	C	LEMD2	c.684C>G	NM_181336.4	NP_851853.1:p.(Ile228Met)	NC_000006.11:g.33756210G>C	VUS	1 lab	94e89508b9
21:46929451 COL18A1 T>C	21	46929451	46929451	T	C	COL18A1	c.3431T>C	NM_001379500.1	NP_001366429.1:p.(Val1144Ala)	NC_000021.8:g.46929451T>C	(Likely) benign	1 lab	94e95531aa
1:152278615 FLG T>C	1	152278615	152278615	T	C	FLG	c.8747A>G	NM_002016.2	NP_002007.1:p.(His2916Arg)	NC_000001.10:g.152278615T>C	(Likely) benign	1 lab	94e9d799e4
1:201052448 CACNA1S C>T	1	201052448	201052448	C	T	CACNA1S	c.1235G>A	NM_000069.3	NP_000060.2:p.(Arg412Gln)	NC_000001.10:g.201052448C>T	VUS	1 lab	94e9ec6238
17:15961006 NCOR1 T>G	17	15961006	15961006	T	G	NCOR1	c.6214A>C	NM_006311.4	NP_006302.2:p.(Thr2072Pro)	NC_000017.10:g.15961006T>G	VUS	1 lab	94ed06d490
2:55189760 EML6 C>G	2	55189760	55189760	C	G	EML6	c.5070C>G	NM_001039753.4	NP_001034842.2:p.(Ile1690Met)	NC_000002.11:g.55189760C>G	VUS	1 lab	94ed691946
17:42328579 SLC4A1 G>A	17	42328579	42328579	G	A	SLC4A1	c.2603C>T	NM_000342.4	NP_000333.1:p.(Pro868Leu)	NC_000017.10:g.42328579G>A	VUS	1 lab	94ee0c66f9
1:36106982 PSMB2 C>T	1	36106982	36106982	C	T	PSMB2	c.52G>A	NM_002794.5	NP_002785.1:p.(Asp18Asn)	NC_000001.10:g.36106982C>T	VUS	1 lab	94eea1d96d
12:52183088 SCN8A G>C	12	52183088	52183088	G	C	SCN8A	c.4305G>C	NM_001330260.2	NP_001317189.1:p.(Glu1435Asp)	NC_000012.11:g.52183088G>C	VUS	1 lab	94f04a62a8
17:10541660 MYH3 C>A	17	10541660	10541660	C	A	MYH3	c.3429G>T	NM_002470.4	NP_002461.2:p.(Glu1143Asp)	NC_000017.10:g.10541660C>A	VUS	1 lab	94f1965828
7:19156782 TWIST1 C>T	7	19156782	19156782	C	T	TWIST1	c.163G>A	NM_000474.4	NP_000465.1:p.(Ala55Thr)	NC_000007.13:g.19156782C>T	(Likely) benign	1 lab	94f28f2d36
19:36219063 KMT2B G>A	19	36219063	36219063	G	A	KMT2B	c.4562G>A	NM_014727.3	NP_055542.1:p.(Arg1521Gln)	NC_000019.9:g.36219063G>A	VUS	1 lab	94f38ec967
X:107834408 COL4A5 G>A	X	107834408	107834408	G	A	COL4A5	c.1286G>A	NM_000495.5	NP_000486.1:p.(Gly429Glu)	NC_000023.10:g.107834408G>A	(Likely) pathogenic	1 lab	27d1a49a2d
3:122255011 PARP9 C>A	3	122255011	122255011	C	A	PARP9	c.2080+4G>T	NM_001146105.2	NP_001139577.1:p.?	NC_000003.11:g.122255011C>A	(Likely) benign	1 lab	94f3e7f45a
7:142983150 TMEM139 G>T	7	142983150	142983150	G	T	TMEM139	c.100G>T	NM_001282876.2	NP_001269805.1:p.(Asp34Tyr)	NC_000007.13:g.142983150G>T	(Likely) benign	1 lab	94f3f01e93
8:38275783 FGFR1 G>A	8	38275783	38275783	G	A	FGFR1	c.1393C>T	NM_023110.3	NP_075598.2:p.(Leu465Phe)	NC_000008.10:g.38275783G>A	VUS	1 lab	94f631c6cc
15:72252443 MYO9A T>C	15	72252443	72252443	T	C	MYO9A	c.1987-6A>G	NM_006901.4	NP_008832.2:p.?	NC_000015.9:g.72252443T>C	(Likely) benign	1 lab	94f6cb3309
3:132440917 NPHP3 T>C	3	132440917	132440917	T	C	NPHP3	c.283A>G	NM_153240.5	NP_694972.3:p.(Arg95Gly)	NC_000003.11:g.132440917T>C	VUS	1 lab	94f6f17fd4
5:176025568 GPRIN1 T>C	5	176025568	176025568	T	C	GPRIN1	c.1268A>G	NM_052899.3	NP_443131.2:p.(Lys423Arg)	NC_000005.9:g.176025568T>C	(Likely) benign	1 lab	94f8634596
9:109689674 ZNF462 G>A	9	109689674	109689674	G	A	ZNF462	c.3481G>A	NM_021224.6	NP_067047.4:p.(Glu1161Lys)	NC_000009.11:g.109689674G>A	VUS	1 lab	94f9387e6d
10:89503367 PAPSS2 C>T	10	89503367	89503367	C	T	PAPSS2	c.1460C>T	NM_001015880.2	NP_001015880.1:p.(Pro487Leu)	NC_000010.10:g.89503367C>T	VUS	1 lab	94fa95f3c0
4:1209770 CTBP1 T>A	4	1209770	1209770	T	A	CTBP1	c.729+9A>T	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1209770T>A	(Likely) benign	1 lab	94fc3cba6a
15:64687589 TRIP4 C>T	15	64687589	64687589	C	T	TRIP4	c.272-8C>T	NM_016213.5	NP_057297.2:p.?	NC_000015.9:g.64687589C>T	(Likely) benign	1 lab	94fca22636
17:8131877 CTC1 C>T	17	8131877	8131877	C	T	CTC1	c.3458G>A	NM_025099.6	NP_079375.3:p.(Arg1153His)	NC_000017.10:g.8131877C>T	VUS	1 lab	94fe5e3d28
3:44868976 KIF15 G>A	3	44868976	44868976	G	A	KIF15	c.2812G>A	NM_020242.3	NP_064627.1:p.(Val938Ile)	NC_000003.11:g.44868976G>A	VUS	1 lab	94fe642898
6:152542132 SYNE1 C>T	6	152542132	152542132	C	T	SYNE1	c.21706G>A	NM_182961.4	NP_892006.3:p.(Ala7236Thr)	NC_000006.11:g.152542132C>T	VUS	1 lab	94ff13bc79
8:68150608 ARFGEF1 C>G	8	68150608	68150608	C	G	ARFGEF1	c.3259G>C	NM_006421.5	NP_006412.2:p.(Ala1087Pro)	NC_000008.10:g.68150608C>G	VUS	1 lab	9500114b4d
6:79707273 PHIP C>T	6	79707273	79707273	C	T	PHIP	c.2059G>A	NM_017934.7	NP_060404.4:p.(Val687Ile)	NC_000006.11:g.79707273C>T	(Likely) benign	1 lab	9500eef799
3:111261101 CD96 G>GA	3	111261101	111261107	G	GA	CD96	c.12dup	NM_005816.5	NP_005807.1:p.(Trp5MetfsTer36)	NC_000003.11:g.111261107dup	(Likely) benign	1 lab	95032d89cc
17:56770023 RAD51C C>T	17	56770023	56770023	C	T	RAD51C	c.19C>T	NM_058216.3	NP_478123.1:p.(Arg7Cys)	NC_000017.10:g.56770023C>T	VUS	1 lab	950482cb68
14:68221833 ZFYVE26 G>A	14	68221833	68221833	G	A	ZFYVE26	c.6921C>T	NM_015346.4	NP_056161.2:p.(Ser2307=)	NC_000014.8:g.68221833G>A	(Likely) benign	1 lab	950518b1d2
9:399269 DOCK8 C>A	9	399269	399269	C	A	DOCK8	c.3234+10C>A	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.399269C>A	(Likely) benign	1 lab	9505edd164
1:202573636 SYT2 TCTC>T	1	202573636	202573641	TCTC	T	SYT2	c.289_291del	NM_177402.5	NP_796376.2:p.(Glu97del)	NC_000001.10:g.202573639_202573641del	VUS	1 lab	27d61098fa
14:91739780 CCDC88C TCA>T	14	91739780	91739782	TCA	T	CCDC88C	c.5274_5275del	NM_001080414.4	NP_001073883.2:p.(Glu1759GlyfsTer52)	NC_000014.8:g.91739781_91739782del	(Likely) pathogenic	1 lab	9506e2b388
22:51169434 SHANK3 G>T	22	51169434	51169434	G	T	SHANK3	c.5115G>T	NM_001372044.2	NP_001358973.1:p.(Val1705=)	NC_000022.10:g.51169434G>T	(Likely) benign	1 lab	95071bb916
18:14124346 ZNF519 C>T	18	14124346	14124346	C	T	ZNF519	c.130+3G>A	NM_145287.4	NP_660330.2:p.?	NC_000018.9:g.14124346C>T	VUS	1 lab	95750917c6
4:85605164 WDFY3 T>C	4	85605164	85605164	T	C	WDFY3	c.9658A>G	NM_014991.6	NP_055806.2:p.(Met3220Val)	NC_000004.11:g.85605164T>C	(Likely) benign	1 lab	9507d4b4be
X:103499476 ESX1 C>A	X	103499476	103499476	C	A	ESX1	c.55G>T	NM_153448.4	NP_703149.1:p.(Val19Phe)	NC_000023.10:g.103499476C>A	(Likely) benign	1 lab	95098b51ce
16:23625335 PALB2 T>A	16	23625335	23625335	T	A	PALB2	c.3191A>T	NM_024675.4	NP_078951.2:p.(Tyr1064Phe)	NC_000016.9:g.23625335T>A	VUS	1 lab	950aa20c5e
11:9009179 NRIP3 T>C	11	9009179	9009179	T	C	NRIP3	c.340-2A>G	NM_020645.3	NP_065696.1:p.?	NC_000011.9:g.9009179T>C	VUS	1 lab	950c0fd075
10:49917880 WDFY4 G>A	10	49917880	49917880	G	A	WDFY4	c.103G>A	NM_001394531.1	NP_001381460.1:p.(Gly35Arg)	NC_000010.10:g.49917880G>A	VUS	1 lab	950d3cfd61
7:21827050 DNAH11 A>G	7	21827050	21827050	A	G	DNAH11	c.9773A>G	NM_001277115.2	NP_001264044.1:p.(Tyr3258Cys)	NC_000007.13:g.21827050A>G	VUS	1 lab	950e09696d
9:35807410 NPR2 C>T	9	35807410	35807410	C	T	NPR2	c.2712+15C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35807410C>T	(Likely) benign	1 lab	950eb27b1a
1:31454225 PUM1 C>T	1	31454225	31454225	C	T	PUM1	c.1186G>A	NM_001020658.2	NP_001018494.1:p.(Val396Ile)	NC_000001.10:g.31454225C>T	VUS	1 lab	95100994ca
7:92731565 SAMD9 G>T	7	92731565	92731565	G	T	SAMD9	c.3846C>A	NM_017654.4	NP_060124.2:p.(Asn1282Lys)	NC_000007.13:g.92731565G>T	(Likely) pathogenic	1 lab	95106ca61c
14:70419005 SMOC1 C>T	14	70419005	70419005	C	T	SMOC1	c.250C>T	NM_001034852.3	NP_001030024.1:p.(Arg84Ter)	NC_000014.8:g.70419005C>T	VUS	1 lab	951f3d3cf9
15:53081666 ONECUT1 TGGTGGTGGTGCG>T	15	53081666	53081688	TGGTGGTGGTGCG	T	ONECUT1	c.404_415del	NM_004498.4	NP_004489.1:p.(Pro135_His138del)	NC_000015.9:g.53081677_53081688del	VUS	1 lab	951077073d
2:27429793 SLC5A6 G>T	2	27429793	27429793	G	T	SLC5A6	c.411C>A	NM_021095.4	NP_066918.2:p.(Phe137Leu)	NC_000002.11:g.27429793G>T	VUS	1 lab	9512b93107
8:77764047 ZFHX4 TCATGTGGCTGGTGGGCACAGCATTGCAGCAAATGTCAACAGCCCTGGC>T	8	77764047	77764097	TCATGTGGCTGGTGGGCACAGCATTGCAGCAAATGTCAACAGCCCTGGC	T	ZFHX4	c.4893_4940del	NM_024721.5	NP_078997.4:p.(His1631_Gly1646del)	NC_000008.10:g.77764050_77764097del	VUS	1 lab	9514a6f75f
11:640064 DRD4 G>A	11	640064	640064	G	A	DRD4	c.815G>A	NM_000797.4	NP_000788.2:p.(Gly272Asp)	NC_000011.9:g.640064G>A	(Likely) benign	1 lab	9515115849
2:215632392 BARD1 T>G	2	215632392	215632392	T	G	BARD1	c.1396-14A>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632392T>G	(Likely) benign	1 lab	9515c150cb
1:19209885 ALDH4A1 G>A	1	19209885	19209885	G	A	ALDH4A1	c.491C>T	NM_003748.4	NP_003739.2:p.(Ala164Val)	NC_000001.10:g.19209885G>A	VUS	1 lab	951603e084
1:43408896 SLC2A1 C>T	1	43408896	43408896	C	T	SLC2A1	c.114+1G>A	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43408896C>T	(Likely) pathogenic	1 lab	9516a1d40a
11:119169176 CBL G>A	11	119169176	119169176	G	A	CBL	c.2360G>A	NM_005188.4	NP_005179.2:p.(Arg787His)	NC_000011.9:g.119169176G>A	(Likely) benign	1 lab	9516f23036
2:241808447 AGXT G>C	2	241808447	241808447	G	C	AGXT	c.165G>C	NM_000030.3	NP_000021.1:p.(Gln55His)	NC_000002.11:g.241808447G>C	VUS	1 lab	951704c3a2
16:70506443 FCSK G>A	16	70506443	70506443	G	A	FCSK	c.1342-1G>A	NM_145059.3	NP_659496.2:p.?	NC_000016.9:g.70506443G>A	VUS	1 lab	95175616cb
5:176637922 NSD1 A>G	5	176637922	176637922	A	G	NSD1	c.2522A>G	NM_022455.5	NP_071900.2:p.(Asn841Ser)	NC_000005.9:g.176637922A>G	(Likely) benign	1 lab	95177b874e
X:151869339 MAGEA3 G>A	X	151869339	151869339	G	A	MAGEA3	c.29G>A	NM_005362.4	NP_005353.1:p.(Cys10Tyr)	NC_000023.10:g.151869339G>A	(Likely) benign	1 lab	95188fb1f2
10:72643797 PCBD1 G>T	10	72643797	72643797	G	T	PCBD1	c.225C>A	NM_000281.4	NP_000272.1:p.(Ile75=)	NC_000010.10:g.72643797G>T	(Likely) benign	1 lab	951a389dd5
5:140788731 PCDHGB4 C>T	5	140788731	140788731	C	T	PCDHGB4	c.2397+18883C>T	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140788731C>T	(Likely) benign	1 lab	951ae7a518
5:14368803 TRIO TTC>T	5	14368803	14368808	TTC	T	TRIO	c.2875-10_2875-9del	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14368807_14368808del	(Likely) benign	1 lab	95205826f3
X:119419556 TMEM255A T>C	X	119419556	119419556	T	C	TMEM255A	c.424-486A>G	NM_001104544.3	NP_001098014.1:p.?	NC_000023.10:g.119419556T>C	VUS	1 lab	952142917e
16:2152047 PKD1 C>T	16	2152047	2152047	C	T	PKD1	c.9397+15G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152047C>T	(Likely) benign	1 lab	95218df473
15:25585225 UBE3A T>C	15	25585225	25585225	T	C	UBE3A	c.2498+7A>G	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25585225T>C	(Likely) benign	1 lab	95230859cf
22:41573359 EP300 A>G	22	41573359	41573359	A	G	EP300	c.5644A>G	NM_001429.4	NP_001420.2:p.(Ser1882Gly)	NC_000022.10:g.41573359A>G	(Likely) benign	1 lab	95235f6c74
12:75706646 CAPS2 A>G	12	75706646	75706646	A	G	CAPS2	c.527T>C	NM_001355024.4	NP_001341953.2:p.(Met176Thr)	NC_000012.11:g.75706646A>G	VUS	1 lab	95253f6832
2:212652834 ERBB4 C>T	2	212652834	212652834	C	T	ERBB4	c.472G>A	NM_005235.3	NP_005226.1:p.(Ala158Thr)	NC_000002.11:g.212652834C>T	(Likely) benign	1 lab	95254979cc
22:45946483 FBLN1 G>A	22	45946483	45946483	G	A	FBLN1	c.1685G>A	NM_006486.3	NP_006477.3:p.(Arg562His)	NC_000022.10:g.45946483G>A	VUS	1 lab	9525932deb
5:13727663 DNAH5 G>A	5	13727663	13727663	G	A	DNAH5	c.11986C>T	NM_001369.3	NP_001360.1:p.(Arg3996Cys)	NC_000005.9:g.13727663G>A	VUS	1 lab	95260b698c
10:81901913 PLAC9 G>A	10	81901913	81901913	G	A	PLAC9	c.140G>A	NM_001012973.3	NP_001012991.1:p.(Arg47His)	NC_000010.10:g.81901913G>A	(Likely) benign	1 lab	95268ddd0b
2:179452247 TTN T>C	2	179452247	179452247	T	C	TTN	c.36969A>G	NM_133432.3	NP_597676.3:p.(Val12323=)	NC_000002.11:g.179452247T>C	(Likely) benign	1 lab	27d6579a96
11:46903416 LRP4 A>C	11	46903416	46903416	A	C	LRP4	c.2651T>G	NM_002334.4	NP_002325.2:p.(Ile884Ser)	NC_000011.9:g.46903416A>C	VUS	1 lab	9529335350
15:93478529 CHD2 G>C	15	93478529	93478529	G	C	CHD2	c.444-2219G>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93478529G>C	(Likely) benign	1 lab	9529b2cfc4
1:29652123 PTPRU T>G	1	29652123	29652123	T	G	PTPRU	c.4261T>G	NM_133178.4	NP_573439.2:p.(Phe1421Val)	NC_000001.10:g.29652123T>G	VUS	1 lab	952d2a554f
X:18646512 CDKL5 C>T	X	18646512	18646512	C	T	CDKL5	c.2518C>T	NM_001323289.2	NP_001310218.1:p.(Arg840Cys)	NC_000023.10:g.18646512C>T	VUS	1 lab	9533f2d9e1
3:49869493 TRAIP G>A	3	49869493	49869493	G	A	TRAIP	c.893C>T	NM_005879.3	NP_005870.2:p.(Pro298Leu)	NC_000003.11:g.49869493G>A	VUS	1 lab	953429199c
15:75982492 CSPG4 G>A	15	75982492	75982492	G	A	CSPG4	c.914C>T	NM_001897.5	NP_001888.2:p.(Thr305Met)	NC_000015.9:g.75982492G>A	VUS	1 lab	9534a3bb71
19:7184651 INSR G>GGAGAGAGAGAGA	19	7184651	7184672	G	GGAGAGAGAGAGA	INSR	c.653-15_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184661_7184672dup	(Likely) benign	1 lab	9536fa7ae2
X:134987513 SAGE1 C>T	X	134987513	134987513	C	T	SAGE1	c.416C>T	NM_001381902.1	NP_001368831.1:p.(Ala139Val)	NC_000023.10:g.134987513C>T	(Likely) benign	1 lab	95372c9f3e
12:56477576 ERBB3 G>A	12	56477576	56477576	G	A	ERBB3	c.124G>A	NM_001982.4	NP_001973.2:p.(Ala42Thr)	NC_000012.11:g.56477576G>A	VUS	1 lab	9538db37ed
15:75498447 C15orf39 C>T	15	75498447	75498447	C	T	C15orf39	c.58C>T	NM_015492.5	NP_056307.3:p.(Arg20Cys)	NC_000015.9:g.75498447C>T	VUS	1 lab	953a29e917
10:26490215 MYO3A C>G	10	26490215	26490215	C	G	MYO3A	c.4567C>G	NM_017433.5	NP_059129.3:p.(Arg1523Gly)	NC_000010.10:g.26490215C>G	VUS	1 lab	953b331c96
7:151944638 KMT2C T>C	7	151944638	151944638	T	C	KMT2C	c.2532+349A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944638T>C	(Likely) benign	1 lab	953b940cde
17:37844144 PGAP3 A>C	17	37844144	37844144	A	C	PGAP3	c.124T>G	NM_033419.5	NP_219487.3:p.(Ser42Ala)	NC_000017.10:g.37844144A>C	VUS	1 lab	953c3e060a
17:7752283 KDM6B A>C	17	7752283	7752283	A	C	KDM6B	c.2677A>C	NM_001348716.2	NP_001335645.1:p.(Met893Leu)	NC_000017.10:g.7752283A>C	(Likely) benign	1 lab	953c4e5cf8
8:144911440 PUF60 G>A	8	144911440	144911440	G	A	PUF60	c.24+10C>T	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144911440G>A	VUS	1 lab	9540fe9353
14:47566150 MDGA2 C>A	14	47566150	47566150	C	A	MDGA2	c.1102G>T	NM_001113498.3	NP_001106970.4:p.(Ala368Ser)	NC_000014.8:g.47566150C>A	VUS	1 lab	954158d377
19:36394266 HCST GA>G	19	36394266	36394267	GA	G	HCST	c.58del	NM_014266.4	NP_055081.1:p.(Thr20ArgfsTer85)	NC_000019.9:g.36394267del	VUS	1 lab	954249b1e5
3:136162254 STAG1 GA>G	3	136162254	136162260	GA	G	STAG1	c.1429-9del	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136162260del	(Likely) benign	1 lab	9545f55cc3
4:1803332 FGFR3 C>T	4	1803332	1803332	C	T	FGFR3	c.616-15C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803332C>T	(Likely) benign	1 lab	9547251ff7
19:11322531 DOCK6 G>C	19	11322531	11322531	G	C	DOCK6	c.4672C>G	NM_020812.4	NP_065863.2:p.(Leu1558Val)	NC_000019.9:g.11322531G>C	VUS	1 lab	954773f604
7:47866972 PKD1L1 T>C	7	47866972	47866972	T	C	PKD1L1	c.6830A>G	NM_138295.5	NP_612152.1:p.(Glu2277Gly)	NC_000007.13:g.47866972T>C	(Likely) benign	1 lab	954830b179
11:58920882 FAM111A A>G	11	58920882	58920882	A	G	FAM111A	c.1741A>G	NM_001312909.2	NP_001299838.1:p.(Ile581Val)	NC_000011.9:g.58920882A>G	VUS	1 lab	954989f6ce
15:35087037 ACTC1 G>A	15	35087037	35087037	G	A	ACTC1	c.-22-6C>T	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35087037G>A	VUS	1 lab	954ad80060
4:77662706 SHROOM3 C>A	4	77662706	77662706	C	A	SHROOM3	c.3380C>A	NM_020859.4	NP_065910.3:p.(Ala1127Glu)	NC_000004.11:g.77662706C>A	(Likely) benign	1 lab	954c489bd8
X:102317887 BEX1 G>A	X	102317887	102317887	G	A	BEX1	c.316C>T	NM_018476.4	NP_060946.3:p.(Arg106Trp)	NC_000023.10:g.102317887G>A	(Likely) benign	1 lab	954f32bed3
6:31656018 ABHD16A G>A	6	31656018	31656018	G	A	ABHD16A	c.1307+8C>T	NM_021160.3	NP_066983.1:p.?	NC_000006.11:g.31656018G>A	(Likely) benign	1 lab	954f5d227f
17:60678112 TLK2 C>T	17	60678112	60678112	C	T	TLK2	c.1651C>T	NM_006852.6	NP_006843.2:p.(Gln551Ter)	NC_000017.10:g.60678112C>T	VUS	1 lab	954f633fa6
1:1451433 ATAD3A C>G	1	1451433	1451433	C	G	ATAD3A	c.247C>G	NM_001170535.3	NP_001164006.1:p.(Gln83Glu)	NC_000001.10:g.1451433C>G	(Likely) benign	1 lab	954f85e152
19:11624065 ECSIT G>C	19	11624065	11624065	G	C	ECSIT	c.544C>G	NM_016581.5	NP_057665.2:p.(Leu182Val)	NC_000019.9:g.11624065G>C	VUS	1 lab	954fe9eef9
1:202709936 KDM5B G>A	1	202709936	202709936	G	A	KDM5B	c.2950C>T	NM_006618.5	NP_006609.3:p.(Arg984Ter)	NC_000001.10:g.202709936G>A	(Likely) pathogenic	1 lab	954ff5c8ee
7:140302144 DENND2A G>C	7	140302144	140302144	G	C	DENND2A	c.54C>G	NM_015689.5	NP_056504.3:p.(Ser18Arg)	NC_000007.13:g.140302144G>C	VUS	1 lab	954ff84b13
19:3762772 MRPL54 C>T	19	3762772	3762772	C	T	MRPL54	c.74C>T	NM_172251.3	NP_758455.1:p.(Ala25Val)	NC_000019.9:g.3762772C>T	(Likely) benign	1 lab	9550eb397a
5:94936697 ARSK T>A	5	94936697	94936697	T	A	ARSK	c.1243T>A	NM_198150.3	NP_937793.1:p.(Ser415Thr)	NC_000005.9:g.94936697T>A	VUS	1 lab	9551359e3e
4:175439192 HPGD A>G	4	175439192	175439192	A	G	HPGD	c.254T>C	NM_000860.6	NP_000851.2:p.(Leu85Pro)	NC_000004.11:g.175439192A>G	VUS	1 lab	95514c2709
19:47764049 CCDC9 C>T	19	47764049	47764049	C	T	CCDC9	c.415C>T	NM_015603.3	NP_056418.1:p.(His139Tyr)	NC_000019.9:g.47764049C>T	(Likely) benign	1 lab	95519e2580
19:1453531 APC2 G>A	19	1453531	1453531	G	A	APC2	c.334G>A	NM_005883.3	NP_005874.1:p.(Gly112Ser)	NC_000019.9:g.1453531G>A	VUS	1 lab	9551e4ee08
10:112595701 RBM20 G>A	10	112595701	112595701	G	A	RBM20	c.3649G>A	NM_001134363.1	NP_001127835.1:p.(Gly1217Arg)	NC_000010.10:g.112595701G>A	VUS	1 lab	334077bfec
1:200967688 KIF21B G>A	1	200967688	200967688	G	A	KIF21B	c.1901C>T	NM_001252102.2	NP_001239031.1:p.(Ala634Val)	NC_000001.10:g.200967688G>A	(Likely) benign	1 lab	95533e156d
15:43028626 CDAN1 G>A	15	43028626	43028626	G	A	CDAN1	c.443C>T	NM_138477.4	NP_612486.2:p.(Ala148Val)	NC_000015.9:g.43028626G>A	(Likely) benign	1 lab	95558c943c
14:45644539 FANCM TAAAA>T	14	45644539	45644546	TAAAA	T	FANCM	c.2586_2589del	NM_020937.4	NP_065988.1:p.(Lys863IlefsTer12)	NC_000014.8:g.45644543_45644546del	(Likely) pathogenic	1 lab	2634374f07
12:111054083 TCTN1 G>T	12	111054083	111054083	G	T	TCTN1	c.220+1876G>T	NM_001082538.3	NP_001076007.1:p.?	NC_000012.11:g.111054083G>T	(Likely) benign	1 lab	9557d84c69
X:9900355 SHROOM2 G>A	X	9900355	9900355	G	A	SHROOM2	c.3032G>A	NM_001649.4	NP_001640.1:p.(Arg1011Gln)	NC_000023.10:g.9900355G>A	VUS	1 lab	95584b5f93
X:99917287 SRPX2 G>A	X	99917287	99917287	G	A	SRPX2	c.278G>A	NM_014467.3	NP_055282.1:p.(Arg93Gln)	NC_000023.10:g.99917287G>A	(Likely) benign	1 lab	95591e0a9c
8:11607721 GATA4 C>T	8	11607721	11607721	C	T	GATA4	c.888C>T	NM_001308093.3	NP_001295022.1:p.(Cys296=)	NC_000008.10:g.11607721C>T	(Likely) benign	1 lab	955a550f1e
17:38241000 THRA A>G	17	38241000	38241000	A	G	THRA	c.508A>G	NM_199334.5	NP_955366.1:p.(Ile170Val)	NC_000017.10:g.38241000A>G	(Likely) benign	1 lab	955ae26e08
21:46925149 COL18A1 A>AGGCCCCCCC	21	46925149	46925158	A	AGGCCCCCCC	COL18A1	c.2978_2979insCGGCCCCCC	NM_001379500.1	NP_001366429.1:p.(Gly994_Pro996dup)	NC_000021.8:g.46925157_46925158insCGGCCCCCC	(Likely) benign	1 lab	955b4f64d8
5:10988364 CTNND2 G>T	5	10988364	10988364	G	T	CTNND2	c.3212-10C>A	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.10988364G>T	VUS	1 lab	955bcd319e
2:206992669 NDUFS1 A>T	2	206992669	206992669	A	T	NDUFS1	c.1736T>A	NM_005006.7	NP_004997.4:p.(Ile579Lys)	NC_000002.11:g.206992669A>T	VUS	1 lab	955c055bdc
12:112939931 PTPN11 A>G	12	112939931	112939931	A	G	PTPN11	c.1600-17A>G	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112939931A>G	VUS	1 lab	955c36d0d9
11:103022892 DYNC2H1 G>A	11	103022892	103022892	G	A	DYNC2H1	c.2974G>A	NM_001377.3	NP_001368.2:p.(Asp992Asn)	NC_000011.9:g.103022892G>A	(Likely) benign	1 lab	955c84b044
1:151534573 TUFT1 G>A	1	151534573	151534573	G	A	TUFT1	c.67G>A	NM_020127.3	NP_064512.1:p.(Val23Met)	NC_000001.10:g.151534573G>A	VUS	1 lab	955dca3d26
2:232790151 NPPC C>T	2	232790151	232790151	C	T	NPPC	c.365G>A	NM_024409.4	NP_077720.1:p.(Ser122Asn)	NC_000002.11:g.232790151C>T	VUS	1 lab	955ddbfddb
8:144998218 PLEC C>T	8	144998218	144998218	C	T	PLEC	c.5879G>A	NM_201384.3	NP_958786.1:p.(Arg1960His)	NC_000008.10:g.144998218C>T	VUS	1 lab	955df19a40
13:111164380 COL4A2 G>A	13	111164380	111164380	G	A	COL4A2	c.4981G>A	NM_001846.4	NP_001837.2:p.(Gly1661Ser)	NC_000013.10:g.111164380G>A	VUS	1 lab	955e4b6a3b
8:116631712 TRPS1 C>G	8	116631712	116631712	C	G	TRPS1	c.613G>C	NM_014112.5	NP_054831.2:p.(Asp205His)	NC_000008.10:g.116631712C>G	(Likely) benign	1 lab	955f158170
11:92568125 FAT3 C>T	11	92568125	92568125	C	T	FAT3	c.9961C>T	NM_001367949.2	NP_001354878.1:p.(Leu3321Phe)	NC_000011.9:g.92568125C>T	(Likely) benign	1 lab	955f40d41e
6:143094791 HIVEP2 G>A	6	143094791	143094791	G	A	HIVEP2	c.1085C>T	NM_006734.4	NP_006725.3:p.(Ser362Leu)	NC_000006.11:g.143094791G>A	(Likely) benign	1 lab	9562351369
12:123444422 ABCB9 C>T	12	123444422	123444422	C	T	ABCB9	c.361G>A	NM_019625.4	NP_062571.1:p.(Val121Met)	NC_000012.11:g.123444422C>T	(Likely) benign	1 lab	956292ee47
10:72195122 NODAL A>G	10	72195122	72195122	A	G	NODAL	c.811T>C	NM_018055.5	NP_060525.3:p.(Tyr271His)	NC_000010.10:g.72195122A>G	VUS	1 lab	95629408c7
3:119134842 ARHGAP31 A>G	3	119134842	119134842	A	G	ARHGAP31	c.4066A>G	NM_020754.4	NP_065805.2:p.(Ile1356Val)	NC_000003.11:g.119134842A>G	(Likely) benign	1 lab	956327c81f
17:74732875 SRSF2 G>C	17	74732875	74732875	G	C	SRSF2	c.362+6C>G	NM_001195427.2	NP_001182356.1:p.?	NC_000017.10:g.74732875G>C	VUS	1 lab	9563a35882
7:6035282 PMS2 G>C	7	6035282	6035282	G	C	PMS2	c.804-18C>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6035282G>C	VUS	1 lab	9564421c54
15:101110178 LINS1 CA>C	15	101110178	101110183	CA	C	LINS1	c.1538del	NM_001040616.3	NP_001035706.2:p.(Leu513Ter)	NC_000015.9:g.101110183del	VUS	1 lab	9564d1c336
19:19241061 TMEM161A G>A	19	19241061	19241061	G	A	TMEM161A	c.499C>T	NM_017814.3	NP_060284.1:p.(Arg167Cys)	NC_000019.9:g.19241061G>A	VUS	1 lab	95664786de
12:4778949 NDUFA9 C>A	12	4778949	4778949	C	A	NDUFA9	c.766C>A	NM_005002.5	NP_004993.1:p.(Pro256Thr)	NC_000012.11:g.4778949C>A	VUS	1 lab	956653ba83
2:20133176 WDR35 C>T	2	20133176	20133176	C	T	WDR35	c.2644G>A	NM_020779.4	NP_065830.2:p.(Val882Ile)	NC_000002.11:g.20133176C>T	VUS	1 lab	9569d9581d
2:238285417 COL6A3 G>T	2	238285417	238285417	G	T	COL6A3	c.3068C>A	NM_004369.4	NP_004360.2:p.(Pro1023Gln)	NC_000002.11:g.238285417G>T	VUS	1 lab	956a1247ad
15:89401336 ACAN C>T	15	89401336	89401336	C	T	ACAN	c.5520C>T	NM_001369268.1	NP_001356197.1:p.(Ala1840=)	NC_000015.9:g.89401336C>T	VUS	1 lab	956b00d240
17:48226957 PPP1R9B C>G	17	48226957	48226957	C	G	PPP1R9B	c.922G>C	NM_032595.5	NP_115984.3:p.(Glu308Gln)	NC_000017.10:g.48226957C>G	VUS	1 lab	956b742b0d
10:81470242 NUTM2B C>CAGAG	10	81470242	81470244	C	CAGAG	NUTM2B	c.1457_1458insGAGA	NM_001278495.2	NP_001265424.1:p.(His486GlnfsTer26)	NC_000010.10:g.81470243_81470244insGAGA	VUS	1 lab	956be61e54
6:88313204 ORC3 C>A	6	88313204	88313204	C	A	ORC3	c.280C>A	NM_012381.4	NP_036513.2:p.(Gln94Lys)	NC_000006.11:g.88313204C>A	(Likely) benign	1 lab	956c51d82a
16:2230928 CASKIN1 G>A	16	2230928	2230928	G	A	CASKIN1	c.2441C>T	NM_020764.4	NP_065815.1:p.(Thr814Ile)	NC_000016.9:g.2230928G>A	(Likely) benign	1 lab	956eca4133
1:899893 KLHL17 GC>G	1	899893	899896	GC	G	KLHL17	c.1686del	NM_198317.3	NP_938073.1:p.(Met563Ter)	NC_000001.10:g.899896del	VUS	1 lab	957022167a
11:2181243 INS G>A	11	2181243	2181243	G	A	INS	c.188-16C>T	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2181243G>A	(Likely) benign	1 lab	9570c3511e
5:60628547 ZSWIM6 G>GA	5	60628547	60628548	G	GA	ZSWIM6	c.448_449insA	NM_020928.2	NP_065979.1:p.(Gly150GlufsTer104)	NC_000005.9:g.60628547_60628548insA	VUS	1 lab	9570dbc9a2
17:1628849 WDR81 C>T	17	1628849	1628849	C	T	WDR81	c.596C>T	NM_001163809.2	NP_001157281.1:p.(Pro199Leu)	NC_000017.10:g.1628849C>T	VUS	1 lab	95711ef946
21:38858763 DYRK1A T>C	21	38858763	38858763	T	C	DYRK1A	c.490-6T>C	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38858763T>C	(Likely) benign	1 lab	95713eb913
3:38519467 ACVR2B G>C	3	38519467	38519467	G	C	ACVR2B	c.370+6G>C	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38519467G>C	(Likely) benign	1 lab	957525157f
14:79181315 NRXN3 T>C	14	79181315	79181315	T	C	NRXN3	c.1877T>C	NM_001330195.2	NP_001317124.1:p.(Leu626Pro)	NC_000014.8:g.79181315T>C	VUS	1 lab	9575bf9957
16:2215588 TRAF7 G>A	16	2215588	2215588	G	A	TRAF7	c.82-292G>A	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2215588G>A	(Likely) benign	1 lab	95766ebd3f
18:55398926 ATP8B1 A>C	18	55398926	55398926	A	C	ATP8B1	c.114T>G	NM_001374385.1	NP_001361314.1:p.(Ser38=)	NC_000018.9:g.55398926A>C	(Likely) benign	1 lab	95771394b3
18:2796025 SMCHD1 T>A	18	2796025	2796025	T	A	SMCHD1	c.5798T>A	NM_015295.3	NP_056110.2:p.(Leu1933His)	NC_000018.9:g.2796025T>A	VUS	1 lab	957ab7e964
2:87214320 RGPD1 T>C	2	87214320	87214320	T	C	RGPD1	c.4298T>C	NM_001382344.1	NP_001369273.1:p.(Val1433Ala)	NC_000002.11:g.87214320T>C	(Likely) benign	1 lab	95884a9b59
4:41748019 PHOX2B CGCTGCCGCGGCCGCCGCCGCT>C	4	41748019	41748045	CGCTGCCGCGGCCGCCGCCGCT	C	PHOX2B	c.729_749del	NM_003924.4	NP_003915.2:p.(Ala254_Ala260del)	NC_000004.11:g.41748025_41748045del	VUS	1 lab	957b73f571
8:143620753 ADGRB1 G>T	8	143620753	143620753	G	T	ADGRB1	c.3685G>T	NM_001702.3	NP_001693.2:p.(Val1229Leu)	NC_000008.10:g.143620753G>T	VUS	1 lab	957c209c87
2:75278553 TACR1 C>T	2	75278553	75278553	C	T	TACR1	c.757G>A	NM_001058.4	NP_001049.1:p.(Val253Met)	NC_000002.11:g.75278553C>T	(Likely) benign	1 lab	957d0b56a9
2:100453988 AFF3 T>C	2	100453988	100453988	T	C	AFF3	c.874-2A>G	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100453988T>C	VUS	1 lab	957dac3434
7:44187412 GCK A>G	7	44187412	44187412	A	G	GCK	c.700T>C	NM_000162.5	NP_000153.1:p.(Tyr234His)	NC_000007.13:g.44187412A>G	(Likely) pathogenic	1 lab	957dfb380b
1:213168387 ANGEL2 A>G	1	213168387	213168387	A	G	ANGEL2	c.1631T>C	NM_144567.5	NP_653168.2:p.(Leu544Pro)	NC_000001.10:g.213168387A>G	(Likely) benign	1 lab	95819b2435
17:78023875 CCDC40 A>G	17	78023875	78023875	A	G	CCDC40	c.952A>G	NM_017950.4	NP_060420.2:p.(Lys318Glu)	NC_000017.10:g.78023875A>G	VUS	1 lab	95826d32f0
10:97916603 ZNF518A CT>C	10	97916603	97916606	CT	C	ZNF518A	c.527del	NM_001330736.2	NP_001317665.1:p.(Leu176Ter)	NC_000010.10:g.97916606del	VUS	1 lab	9582e0ff6f
15:40764398 CHST14 G>T	15	40764398	40764398	G	T	CHST14	c.986G>T	NM_130468.4	NP_569735.1:p.(Arg329Leu)	NC_000015.9:g.40764398G>T	(Likely) benign	1 lab	9582e96de3
4:3526685 LRPAP1 C>T	4	3526685	3526685	C	T	LRPAP1	c.298G>A	NM_002337.4	NP_002328.1:p.(Gly100Ser)	NC_000004.11:g.3526685C>T	VUS	1 lab	9584d46326
1:231398584 GNPAT T>C	1	231398584	231398584	T	C	GNPAT	c.554T>C	NM_014236.4	NP_055051.1:p.(Ile185Thr)	NC_000001.10:g.231398584T>C	VUS	1 lab	9584fb1831
19:46915274 CCDC8 C>T	19	46915274	46915274	C	T	CCDC8	c.794G>A	NM_032040.5	NP_114429.2:p.(Trp265Ter)	NC_000019.9:g.46915274C>T	(Likely) pathogenic	1 lab	958558e9af
17:78055751 CCDC40 C>T	17	78055751	78055751	C	T	CCDC40	c.1883C>T	NM_017950.4	NP_060420.2:p.(Thr628Met)	NC_000017.10:g.78055751C>T	(Likely) benign	1 lab	9586e3e65c
X:77913571 RTL3 G>A	X	77913571	77913571	G	A	RTL3	c.347C>T	NM_152694.3	NP_689907.1:p.(Ala116Val)	NC_000023.10:g.77913571G>A	VUS	1 lab	958799120f
17:56772404 RAD51C A>G	17	56772404	56772404	A	G	RAD51C	c.258A>G	NM_058216.3	NP_478123.1:p.(Thr86=)	NC_000017.10:g.56772404A>G	(Likely) benign	1 lab	958ab0ca58
15:90193161 KIF7 C>G	15	90193161	90193161	C	G	KIF7	c.340G>C	NM_198525.3	NP_940927.2:p.(Glu114Gln)	NC_000015.9:g.90193161C>G	VUS	1 lab	958ad6fc7a
9:98232223 PTCH1 GA>G	9	98232223	98232231	GA	G	PTCH1	c.1531-11del	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98232231del	(Likely) benign	1 lab	2636d2b0d2
5:64976311 SGTB G>C	5	64976311	64976311	G	C	SGTB	c.681+10C>G	NM_019072.3	NP_061945.1:p.?	NC_000005.9:g.64976311G>C	(Likely) benign	1 lab	958b9d0f2e
17:78313433 RNF213 C>T	17	78313433	78313433	C	T	RNF213	c.5266C>T	NM_001256071.3	NP_001243000.2:p.(Arg1756Cys)	NC_000017.10:g.78313433C>T	VUS	1 lab	958ba18e37
10:123260368 FGFR2 C>T	10	123260368	123260368	C	T	FGFR2	c.1533G>A	NM_000141.5	NP_000132.3:p.(Ala511=)	NC_000010.10:g.123260368C>T	VUS	1 lab	958e15d9bc
18:19751726 GATA6 G>C	18	19751726	19751726	G	C	GATA6	c.621G>C	NM_005257.6	NP_005248.2:p.(Gly207=)	NC_000018.9:g.19751726G>C	(Likely) benign	1 lab	959091fb23
22:40666282 TNRC6B C>T	22	40666282	40666282	C	T	TNRC6B	c.2963C>T	NM_001162501.2	NP_001155973.1:p.(Pro988Leu)	NC_000022.10:g.40666282C>T	VUS	1 lab	95927d7a0d
19:19654999 CILP2 C>T	19	19654999	19654999	C	T	CILP2	c.1645C>T	NM_153221.2	NP_694953.2:p.(His549Tyr)	NC_000019.9:g.19654999C>T	(Likely) benign	1 lab	9594489465
1:64102017 PGM1 G>A	1	64102017	64102017	G	A	PGM1	c.986G>A	NM_002633.3	NP_002624.2:p.(Arg329His)	NC_000001.10:g.64102017G>A	(Likely) benign	1 lab	9597363e11
11:17415289 ABCC8 C>A	11	17415289	17415289	C	A	ABCC8	c.4563G>T	NM_000352.6	NP_000343.2:p.(Lys1521Asn)	NC_000011.9:g.17415289C>A	(Likely) benign	1 lab	95978407f3
18:7016604 LAMA1 C>T	18	7016604	7016604	C	T	LAMA1	c.2875G>A	NM_005559.4	NP_005550.2:p.(Val959Met)	NC_000018.9:g.7016604C>T	VUS	1 lab	9598abb5ba
22:46931893 CELSR1 A>G	22	46931893	46931893	A	G	CELSR1	c.1175T>C	NM_001378328.1	NP_001365257.1:p.(Val392Ala)	NC_000022.10:g.46931893A>G	(Likely) benign	1 lab	95990ab2ab
X:107431191 COL4A6 T>A	X	107431191	107431191	T	A	COL4A6	c.1654A>T	NM_033641.4	NP_378667.1:p.(Ile552Phe)	NC_000023.10:g.107431191T>A	(Likely) benign	1 lab	9599f2446a
5:38406346 EGFLAM A>G	5	38406346	38406346	A	G	EGFLAM	c.828+3A>G	NM_152403.4	NP_689616.2:p.?	NC_000005.9:g.38406346A>G	VUS	1 lab	959ada052f
1:45272150 DYNLT4 C>A	1	45272150	45272150	C	A	DYNLT4	c.191G>T	NM_001377534.1	NP_001364463.1:p.(Arg64Leu)	NC_000001.10:g.45272150C>A	VUS	1 lab	959caf406d
17:42962709 EFTUD2 G>GA	17	42962709	42962719	G	GA	EFTUD2	c.272-8dup	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42962719dup	(Likely) benign	1 lab	959d8d1b23
1:158585355 SPTA1 T>C	1	158585355	158585355	T	C	SPTA1	c.6601-162A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158585355T>C	(Likely) benign	1 lab	27dcc2d30d
19:5696749 LONP1 T>G	19	5696749	5696749	T	G	LONP1	c.1705A>C	NM_004793.4	NP_004784.2:p.(Met569Leu)	NC_000019.9:g.5696749T>G	VUS	1 lab	959e8efafa
11:870141 CHID1 C>T	11	870141	870141	C	T	CHID1	c.1063G>A	NM_023947.4	NP_076436.3:p.(Val355Ile)	NC_000011.9:g.870141C>T	(Likely) benign	1 lab	959f483fc6
2:209108317 IDH1 C>T	2	209108317	209108317	C	T	IDH1	c.532G>A	NM_005896.4	NP_005887.2:p.(Val178Ile)	NC_000002.11:g.209108317C>T	(Likely) benign	1 lab	959f49e524
13:39451557 FREM2 A>T	13	39451557	39451557	A	T	FREM2	c.8671+177A>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39451557A>T	(Likely) benign	1 lab	27dd7340ee
8:18079607 NAT1 C>A	8	18079607	18079607	C	A	NAT1	c.51C>A	NM_000662.8	NP_000653.3:p.(Asn17Lys)	NC_000008.10:g.18079607C>A	(Likely) benign	1 lab	95a00e9dda
1:45292866 PTCH2 G>A	1	45292866	45292866	G	A	PTCH2	c.2487C>T	NM_001166292.2	NP_001159764.1:p.(Asp829=)	NC_000001.10:g.45292866G>A	(Likely) benign	1 lab	26384b3370
2:8890423 KIDINS220 G>C	2	8890423	8890423	G	C	KIDINS220	c.3233C>G	NM_020738.4	NP_065789.1:p.(Ala1078Gly)	NC_000002.11:g.8890423G>C	(Likely) benign	1 lab	95a185a80a
16:88788998 PIEZO1 C>T	16	88788998	88788998	C	T	PIEZO1	c.4768G>A	NM_001142864.4	NP_001136336.2:p.(Val1590Met)	NC_000016.9:g.88788998C>T	(Likely) benign	1 lab	95a2363297
18:24035765 KCTD1 A>T	18	24035765	24035765	A	T	KCTD1	c.2540T>A	NM_001142730.3	NP_001136202.1:p.(Leu847Gln)	NC_000018.9:g.24035765A>T	(Likely) benign	1 lab	95a69eef9d
3:128204734 GATA2 A>G	3	128204734	128204734	A	G	GATA2	c.707T>C	NM_032638.5	NP_116027.2:p.(Met236Thr)	NC_000003.11:g.128204734A>G	(Likely) benign	1 lab	95a6ba8b40
2:128050295 ERCC3 T>C	2	128050295	128050295	T	C	ERCC3	c.362A>G	NM_000122.2	NP_000113.1:p.(Tyr121Cys)	NC_000002.11:g.128050295T>C	VUS	1 lab	95a78620d5
4:170321514 NEK1 C>G	4	170321514	170321514	C	G	NEK1	c.3715-6G>C	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170321514C>G	(Likely) benign	1 lab	95a859b0e0
17:8289701 RPL26 T>TTG	17	8289701	8289703	T	TTG	RPL26				NC_000017.10:g.8289702_8289703insGT	VUS	1 lab	95a94fd6f5
14:32562682 ARHGAP5 G>A	14	32562682	32562682	G	A	ARHGAP5	c.2807G>A	NM_001030055.2	NP_001025226.1:p.(Ser936Asn)	NC_000014.8:g.32562682G>A	VUS	1 lab	95aa2c0d5a
8:11566409 GATA4 C>T	8	11566409	11566409	C	T	GATA4	c.588C>T	NM_001308093.3	NP_001295022.1:p.(Ala196=)	NC_000008.10:g.11566409C>T	(Likely) benign	1 lab	95aadef542
X:64947704 MSN T>C	X	64947704	64947704	T	C	MSN	c.125T>C	NM_002444.3	NP_002435.1:p.(Val42Ala)	NC_000023.10:g.64947704T>C	VUS	1 lab	95abb72591
2:218999611 CXCR2 G>T	2	218999611	218999611	G	T	CXCR2	c.87G>T	NM_001557.4	NP_001548.1:p.(Leu29=)	NC_000002.11:g.218999611G>T	(Likely) benign	1 lab	95acf670d6
5:37816097 GDNF C>A	5	37816097	37816097	C	A	GDNF	c.292G>T	NM_000514.4	NP_000505.1:p.(Ala98Ser)	NC_000005.9:g.37816097C>A	(Likely) benign	1 lab	95ad312171
12:109967792 UBE3B C>T	12	109967792	109967792	C	T	UBE3B	c.2725C>T	NM_130466.4	NP_569733.2:p.(Pro909Ser)	NC_000012.11:g.109967792C>T	(Likely) benign	1 lab	95ae740d62
4:56865485 CEP135 T>C	4	56865485	56865485	T	C	CEP135	c.2027T>C	NM_025009.5	NP_079285.2:p.(Leu676Pro)	NC_000004.11:g.56865485T>C	VUS	1 lab	95afc708d1
2:100176875 AFF3 T>A	2	100176875	100176875	T	A	AFF3	c.3143A>T	NM_001386135.1	NP_001373064.1:p.(His1048Leu)	NC_000002.11:g.100176875T>A	VUS	1 lab	95b07e292f
9:34520699 DNAI1 T>C	9	34520699	34520699	T	C	DNAI1	c.2045T>C	NM_012144.4	NP_036276.1:p.(Ile682Thr)	NC_000009.11:g.34520699T>C	(Likely) pathogenic	1 lab	95b195d0a4
7:156743235 NOM1 A>T	7	156743235	156743235	A	T	NOM1	c.804A>T	NM_138400.2	NP_612409.1:p.(Glu268Asp)	NC_000007.13:g.156743235A>T	(Likely) benign	1 lab	95b1d24548
6:146215302 SHPRH C>A	6	146215302	146215302	C	A	SHPRH	c.4679G>T	NM_001042683.3	NP_001036148.2:p.(Arg1560Leu)	NC_000006.11:g.146215302C>A	VUS	1 lab	95b2054c41
1:164769126 PBX1 G>T	1	164769126	164769126	G	T	PBX1	c.701G>T	NM_002585.4	NP_002576.1:p.(Arg234Leu)	NC_000001.10:g.164769126G>T	VUS	1 lab	95b2a3da67
14:65270222 SPTB A>G	14	65270222	65270222	A	G	SPTB	c.474+103T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65270222A>G	(Likely) benign	1 lab	3342f06b80
5:161324282 GABRA1 C>T	5	161324282	161324282	C	T	GABRA1	c.1225C>T	NM_001127644.2	NP_001121116.1:p.(Pro409Ser)	NC_000005.9:g.161324282C>T	(Likely) benign	1 lab	95b35a0a8e
4:155412090 DCHS2 T>C	4	155412090	155412090	T	C	DCHS2	c.418A>G	NM_001358235.2	NP_001345164.1:p.(Ser140Gly)	NC_000004.11:g.155412090T>C	(Likely) benign	1 lab	95b3b81aba
1:224621627 WDR26 G>A	1	224621627	224621627	G	A	WDR26	c.481C>T	NM_001379403.1	NP_001366332.1:p.(Pro161Ser)	NC_000001.10:g.224621627G>A	(Likely) benign	1 lab	95b437dd51
3:111343192 CD96 G>A	3	111343192	111343192	G	A	CD96	c.1262G>A	NM_005816.5	NP_005807.1:p.(Ser421Asn)	NC_000003.11:g.111343192G>A	(Likely) benign	1 lab	95b5f6cd60
11:26463455 ANO3 G>C	11	26463455	26463455	G	C	ANO3	c.47-10G>C	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26463455G>C	(Likely) benign	1 lab	263afc2bd8
2:73659340 ALMS1 G>A	2	73659340	73659340	G	A	ALMS1	c.1353G>A	NM_001378454.1	NP_001365383.1:p.(Ser451=)	NC_000002.11:g.73659340G>A	(Likely) benign	1 lab	95ba9a3f3b
14:90754929 NRDE2 C>T	14	90754929	90754929	C	T	NRDE2	c.2790G>A	NM_017970.4	NP_060440.2:p.(Val930=)	NC_000014.8:g.90754929C>T	(Likely) benign	1 lab	95bb43ccbe
1:180243416 LHX4 T>A	1	180243416	180243416	T	A	LHX4	c.875T>A	NM_033343.4	NP_203129.1:p.(Met292Lys)	NC_000001.10:g.180243416T>A	VUS	1 lab	95bcb2ee5d
4:56283407 TMEM165 A>G	4	56283407	56283407	A	G	TMEM165	c.602A>G	NM_018475.5	NP_060945.2:p.(Asp201Gly)	NC_000004.11:g.56283407A>G	VUS	1 lab	95bf835efc
21:46640939 ADARB1 C>T	21	46640939	46640939	C	T	ADARB1	c.1926+10C>T	NM_001112.4	NP_001103.1:p.?	NC_000021.8:g.46640939C>T	(Likely) benign	1 lab	95bfe75658
17:4802544 CHRNE G>A	17	4802544	4802544	G	A	CHRNE	c.1168C>T	NM_000080.4	NP_000071.1:p.(Arg390Trp)	NC_000017.10:g.4802544G>A	VUS	1 lab	95bff0bb0a
3:160156049 TRIM59 G>T	3	160156049	160156049	G	T	TRIM59	c.923C>A	NM_173084.3	NP_775107.1:p.(Ser308Tyr)	NC_000003.11:g.160156049G>T	VUS	1 lab	95c00fd644
17:38241016 THRA A>G	17	38241016	38241016	A	G	THRA	c.524A>G	NM_199334.5	NP_955366.1:p.(His175Arg)	NC_000017.10:g.38241016A>G	VUS	1 lab	95c04ec691
13:39338484 FREM2 A>ATGGATC	13	39338484	39338491	A	ATGGATC	FREM2	c.5309_5314dup	NM_207361.6	NP_997244.4:p.(Trp1770_Ile1771dup)	NC_000013.10:g.39338486_39338491dup	VUS	1 lab	95c079060b
5:92929426 NR2F1 G>A	5	92929426	92929426	G	A	NR2F1	c.1150G>A	NM_005654.6	NP_005645.1:p.(Val384Ile)	NC_000005.9:g.92929426G>A	(Likely) benign	1 lab	95c3366081
1:120497754 NOTCH2 C>T	1	120497754	120497754	C	T	NOTCH2	c.2128G>A	NM_024408.4	NP_077719.2:p.(Glu710Lys)	NC_000001.10:g.120497754C>T	(Likely) benign	1 lab	95c3cabde1
4:55124952 PDGFRA C>T	4	55124952	55124952	C	T	PDGFRA	c.17C>T	NM_006206.6	NP_006197.1:p.(Pro6Leu)	NC_000004.11:g.55124952C>T	VUS	1 lab	95c6b0bb39
5:131719982 SLC22A5 C>T	5	131719982	131719982	C	T	SLC22A5	c.641C>T	NM_003060.4	NP_003051.1:p.(Ala214Val)	NC_000005.9:g.131719982C>T	VUS	1 lab	95c7b88625
9:33466142 NOL6 C>T	9	33466142	33466142	C	T	NOL6	c.2291G>A	NM_022917.5	NP_075068.2:p.(Arg764His)	NC_000009.11:g.33466142C>T	(Likely) benign	1 lab	95c7cf69b2
3:157823669 SHOX2 C>G	3	157823669	157823669	C	G	SHOX2	c.145G>C	NM_001163678.2	NP_001157150.1:p.(Asp49His)	NC_000003.11:g.157823669C>G	(Likely) benign	1 lab	95ca018daf
12:109996925 MMAB G>A	12	109996925	109996925	G	A	MMAB	c.620C>T	NM_052845.4	NP_443077.1:p.(Ala207Val)	NC_000012.11:g.109996925G>A	(Likely) benign	1 lab	95ca4f77dd
3:12644985 RAF1 T>G	3	12644985	12644985	T	G	RAF1	c.834+650A>C	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12644985T>G	VUS	1 lab	95cac9f6cb
3:42954793 ZNF662 G>A	3	42954793	42954793	G	A	ZNF662	c.252G>A	NM_207404.4	NP_997287.2:p.(Pro84=)	NC_000003.11:g.42954793G>A	VUS	1 lab	95cb83bbc1
3:17051816 PLCL2 C>T	3	17051816	17051816	C	T	PLCL2	c.978C>T	NM_001144382.2	NP_001137854.1:p.(Val326=)	NC_000003.11:g.17051816C>T	VUS	1 lab	95cb91be59
3:160118670 SMC4 CGCCGCCGTCCCCTGACGGCGCCAGCAGCGACGCGGAGCCTGA>C	3	160118670	160118722	CGCCGCCGTCCCCTGACGGCGCCAGCAGCGACGCGGAGCCTGA	C	SMC4	c.67_108del	NM_001002800.3	NP_001002800.1:p.(Pro23_Ser36del)	NC_000003.11:g.160118681_160118722del	(Likely) benign	1 lab	95cc86f47f
4:175898914 ADAM29 GCCTTCCCAGAGTCATCCTCA>G	4	175898914	175898934	GCCTTCCCAGAGTCATCCTCA	G	ADAM29	c.2239_2258del	NM_014269.4	NP_055084.3:p.(Pro747GlyfsTer106)	NC_000004.11:g.175898915_175898934del	VUS	1 lab	95cc8d9f8c
1:181767468 CACNA1E C>G	1	181767468	181767468	C	G	CACNA1E	c.6440C>G	NM_001205293.3	NP_001192222.1:p.(Ser2147Cys)	NC_000001.10:g.181767468C>G	VUS	1 lab	95ccda9d6c
6:393166 IRF4 G>A	6	393166	393166	G	A	IRF4	c.14G>A	NM_002460.4	NP_002451.2:p.(Gly5Asp)	NC_000006.11:g.393166G>A	(Likely) benign	1 lab	27df3f76df
17:27579134 CRYBA1 AGAG>A	17	27579134	27579140	AGAG	A	CRYBA1	c.272_274del	NM_005208.5	NP_005199.2:p.(Gly91del)	NC_000017.10:g.27579138_27579140del	(Likely) pathogenic	1 lab	95d0268eb1
3:49095125 QRICH1 G>C	3	49095125	49095125	G	C	QRICH1	c.508C>G	NM_198880.3	NP_942581.1:p.(Gln170Glu)	NC_000003.11:g.49095125G>C	VUS	1 lab	95d148a04b
15:89401169 ACAN C>G	15	89401169	89401169	C	G	ACAN	c.5353C>G	NM_001369268.1	NP_001356197.1:p.(Leu1785Val)	NC_000015.9:g.89401169C>G	(Likely) benign	1 lab	95d1aacae7
18:20576373 RBBP8 C>T	18	20576373	20576373	C	T	RBBP8	c.1976C>T	NM_002894.3	NP_002885.1:p.(Pro659Leu)	NC_000018.9:g.20576373C>T	VUS	1 lab	95d1d32e39
1:115256548 NRAS T>A	1	115256548	115256548	T	A	NRAS	c.163A>T	NM_002524.5	NP_002515.1:p.(Ile55Leu)	NC_000001.10:g.115256548T>A	VUS	1 lab	95d4754b26
19:36219471 KMT2B G>A	19	36219471	36219471	G	A	KMT2B	c.4572-204G>A	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36219471G>A	(Likely) benign	1 lab	95d511e6ef
X:114879403 PLS3 G>A	X	114879403	114879403	G	A	PLS3	c.1246G>A	NM_005032.7	NP_005023.2:p.(Val416Ile)	NC_000023.10:g.114879403G>A	VUS	1 lab	95d568fec7
4:100479262 TRMT10A GAAC>G	4	100479262	100479269	GAAC	G	TRMT10A	c.289_291del	NM_001134665.3	NP_001128137.1:p.(Val97del)	NC_000004.11:g.100479267_100479269del	VUS	1 lab	95d598c7c9
2:182542972 NEUROD1 G>T	2	182542972	182542972	G	T	NEUROD1	c.616C>A	NM_002500.5	NP_002491.3:p.(His206Asn)	NC_000002.11:g.182542972G>T	VUS	1 lab	95d642cbef
15:85383717 ALPK3 C>T	15	85383717	85383717	C	T	ALPK3	c.1207C>T	NM_020778.5	NP_065829.4:p.(Pro403Ser)	NC_000015.9:g.85383717C>T	VUS	1 lab	95d7224fc2
14:89305871 TTC8 A>G	14	89305871	89305871	A	G	TTC8	c.220A>G	NM_144596.4	NP_653197.2:p.(Ile74Val)	NC_000014.8:g.89305871A>G	VUS	1 lab	95d742ea7e
20:62607130 SAMD10 C>A	20	62607130	62607130	C	A	SAMD10	c.501G>T	NM_080621.5	NP_542188.1:p.(Gln167His)	NC_000020.10:g.62607130C>A	(Likely) benign	1 lab	95d7f7ce87
2:227958993 COL4A4 G>A	2	227958993	227958993	G	A	COL4A4	c.1217C>T	NM_000092.5	NP_000083.3:p.(Pro406Leu)	NC_000002.11:g.227958993G>A	(Likely) benign	1 lab	95d9091be4
18:48444777 ME2 C>CT	18	48444777	48444778	C	CT	ME2	c.734+195dup	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48444778dup	(Likely) benign	1 lab	27e1cf88f4
X:66765203 AR A>AGCG	X	66765203	66765206	A	AGCG	AR	c.217_218insGGC	NM_000044.6	NP_000035.2:p.(Gln72_Gln73insArg)	NC_000023.10:g.66765205_66765206insGGC	VUS	1 lab	95db6075b7
6:149639177 TAB2 C>T	6	149639177	149639177	C	T	TAB2	c.-90+26C>T	NM_001292034.3	NP_001278963.1:p.?	NC_000006.11:g.149639177C>T	VUS	1 lab	95dcd79ce6
X:152835175 ATP2B3 G>A	X	152835175	152835175	G	A	ATP2B3	c.3342+4614G>A	NM_001001344.3	NP_001001344.1:p.?	NC_000023.10:g.152835175G>A	(Likely) benign	1 lab	95dd7cb67c
8:144992895 PLEC G>A	8	144992895	144992895	G	A	PLEC	c.11094C>T	NM_201384.3	NP_958786.1:p.(Pro3698=)	NC_000008.10:g.144992895G>A	VUS	1 lab	95dd9d140d
3:53156514 RFT1 G>C	3	53156514	53156514	G	C	RFT1	c.332C>G	NM_052859.4	NP_443091.1:p.(Pro111Arg)	NC_000003.11:g.53156514G>C	VUS	1 lab	95e0710154
1:65344760 JAK1 G>A	1	65344760	65344760	G	A	JAK1	c.277C>T	NM_002227.4	NP_002218.2:p.(Arg93Cys)	NC_000001.10:g.65344760G>A	VUS	1 lab	95e180e7f1
9:101518831 ANKS6 T>G	9	101518831	101518831	T	G	ANKS6	c.2197A>C	NM_173551.5	NP_775822.3:p.(Thr733Pro)	NC_000009.11:g.101518831T>G	VUS	1 lab	95e2cf1e12
17:72860158 FDXR G>A	17	72860158	72860158	G	A	FDXR	c.1034C>T	NM_024417.5	NP_077728.3:p.(Thr345Met)	NC_000017.10:g.72860158G>A	VUS	1 lab	95e33e93b2
14:101347299 RTL1 T>G	14	101347299	101347299	T	G	RTL1	c.3827A>C	NM_001134888.3	NP_001128360.1:p.(His1276Pro)	NC_000014.8:g.101347299T>G	VUS	1 lab	95e38a1d45
12:12022536 ETV6 G>A	12	12022536	12022536	G	A	ETV6	c.642G>A	NM_001987.5	NP_001978.1:p.(Pro214=)	NC_000012.11:g.12022536G>A	(Likely) benign	1 lab	95e4733350
21:46900644 COL18A1 C>T	21	46900644	46900644	C	T	COL18A1	c.1483C>T	NM_001379500.1	NP_001366429.1:p.(Pro495Ser)	NC_000021.8:g.46900644C>T	VUS	1 lab	95e4ee4e46
15:42150845 SPTBN5 C>G	15	42150845	42150845	C	G	SPTBN5	c.8181G>C	NM_016642.4	NP_057726.4:p.(Gln2727His)	NC_000015.9:g.42150845C>G	VUS	1 lab	95e6ca55a7
9:139401345 NOTCH1 C>T	9	139401345	139401345	C	T	NOTCH1	c.3724G>A	NM_017617.5	NP_060087.3:p.(Gly1242Ser)	NC_000009.11:g.139401345C>T	(Likely) benign	1 lab	95e80019d5
6:17764793 KIF13A C>T	6	17764793	17764793	C	T	KIF13A	c.4966G>A	NM_022113.6	NP_071396.4:p.(Glu1656Lys)	NC_000006.11:g.17764793C>T	(Likely) benign	1 lab	95e8f90281
13:103383329 LRTM3 TA>T	13	103383329	103383331	TA	T	LRTM3	c.19717del	NM_001146197.3	NP_001139669.1:p.(Tyr6573MetfsTer3)	NC_000013.10:g.103383331del	VUS	1 lab	95eae52c3c
17:48696098 CACNA1G C>T	17	48696098	48696098	C	T	CACNA1G	c.5510C>T	NM_018896.5	NP_061496.2:p.(Thr1837Met)	NC_000017.10:g.48696098C>T	(Likely) benign	1 lab	95ec5b437a
4:47427738 GABRB1 T>G	4	47427738	47427738	T	G	GABRB1	c.1128T>G	NM_000812.4	NP_000803.2:p.(Asn376Lys)	NC_000004.11:g.47427738T>G	(Likely) benign	1 lab	95ef3b140a
7:143453800 CTAGE6 G>C	7	143453800	143453800	G	C	CTAGE6	c.952C>G	NM_178561.5	NP_848656.2:p.(Leu318Val)	NC_000007.13:g.143453800G>C	(Likely) benign	1 lab	95f04d5cab
9:37888402 SLC25A51 A>T	9	37888402	37888402	A	T	SLC25A51	c.146T>A	NM_033412.4	NP_219480.1:p.(Phe49Tyr)	NC_000009.11:g.37888402A>T	(Likely) benign	1 lab	95f0e107a2
2:220422604 OBSL1 G>A	2	220422604	220422604	G	A	OBSL1	c.3731C>T	NM_015311.3	NP_056126.1:p.(Thr1244Ile)	NC_000002.11:g.220422604G>A	(Likely) benign	1 lab	95f27e0de0
X:135067783 SLC9A6 G>A	X	135067783	135067783	G	A	SLC9A6	c.-35G>A	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135067783G>A	VUS	1 lab	95f39fbe40
5:145719363 POU4F3 C>T	5	145719363	145719363	C	T	POU4F3	c.373C>T	NM_002700.3	NP_002691.1:p.(Pro125Ser)	NC_000005.9:g.145719363C>T	VUS	1 lab	95f45ef34b
1:40422751 MFSD2A C>A	1	40422751	40422751	C	A	MFSD2A	c.94-8C>A	NM_032793.5	NP_116182.2:p.?	NC_000001.10:g.40422751C>A	(Likely) benign	1 lab	95f4722ea7
13:25486776 CPAP C>T	13	25486776	25486776	C	T	CPAP	c.388G>A	NM_018451.5	NP_060921.3:p.(Ala130Thr)	NC_000013.10:g.25486776C>T	VUS	1 lab	95f5ecb7d6
X:11780303 MSL3 A>G	X	11780303	11780303	A	G	MSL3	c.520A>G	NM_078629.4	NP_523353.2:p.(Ile174Val)	NC_000023.10:g.11780303A>G	(Likely) benign	1 lab	95f7c2263c
2:227963449 COL4A4 G>A	2	227963449	227963449	G	A	COL4A4	c.1165C>T	NM_000092.4	NP_000083.3:p.(Pro389Ser)	NC_000002.11:g.227963449G>A	VUS	1 lab	27e377a318
8:104898341 RIMS2 G>A	8	104898341	104898341	G	A	RIMS2	c.1646G>A	NM_001348484.3	NP_001335413.1:p.(Gly549Asp)	NC_000008.10:g.104898341G>A	VUS	1 lab	95faf75ad2
3:69998243 MITF A>T	3	69998243	69998243	A	T	MITF	c.804A>T	NM_001354604.2	NP_001341533.1:p.(Gln268His)	NC_000003.11:g.69998243A>T	VUS	1 lab	95fc199827
12:125478381 BRI3BP C>CCTGCTG	12	125478381	125478410	C	CCTGCTG	BRI3BP	c.69_74dup	NM_080626.6	NP_542193.3:p.(Leu24_Leu25dup)	NC_000012.11:g.125478405_125478410dup	VUS	1 lab	95fcd3475e
7:4823313 AP5Z1 A>G	7	4823313	4823313	A	G	AP5Z1	c.512-7A>G	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4823313A>G	(Likely) benign	1 lab	95fd95f152
2:219924983 IHH G>T	2	219924983	219924983	G	T	IHH	c.207C>A	NM_002181.4	NP_002172.2:p.(Gly69=)	NC_000002.11:g.219924983G>T	(Likely) benign	1 lab	95fd9d085f
12:56398510 SUOX A>C	12	56398510	56398510	A	C	SUOX	c.1337A>C	NM_001032386.2	NP_001027558.1:p.(Lys446Thr)	NC_000012.11:g.56398510A>C	VUS	1 lab	95fdb3bb25
5:131726587 SLC22A5 G>C	5	131726587	131726587	G	C	SLC22A5	c.1258G>C	NM_003060.4	NP_003051.1:p.(Val420Leu)	NC_000005.9:g.131726587G>C	(Likely) benign	1 lab	95fe18a30a
9:33120567 B4GALT1 T>C	9	33120567	33120567	T	C	B4GALT1	c.686A>G	NM_001497.4	NP_001488.2:p.(Asn229Ser)	NC_000009.11:g.33120567T>C	VUS	1 lab	95ff1e3512
X:107418380 COL4A6 G>A	X	107418380	107418380	G	A	COL4A6	c.2896C>T	NM_033641.4	NP_378667.1:p.(Leu966Phe)	NC_000023.10:g.107418380G>A	VUS	1 lab	95ffa1f766
16:3026898 PKMYT1 G>A	16	3026898	3026898	G	A	PKMYT1	c.145C>T	NM_004203.5	NP_004194.3:p.(Arg49Trp)	NC_000016.9:g.3026898G>A	(Likely) benign	1 lab	9600093678
3:9027535 SRGAP3 C>A	3	9027535	9027535	C	A	SRGAP3	c.2968G>T	NM_014850.4	NP_055665.1:p.(Val990Leu)	NC_000003.11:g.9027535C>A	VUS	1 lab	96022f8754
19:1004510 GRIN3B CTG>C	19	1004510	1004512	CTG	C	GRIN3B	c.1020-9_1020-8del	NM_138690.3	NP_619635.1:p.?	NC_000019.9:g.1004511_1004512del	(Likely) benign	1 lab	96026e91ca
4:2632844 FAM193A A>G	4	2632844	2632844	A	G	FAM193A	c.986A>G	NM_001366318.2	NP_001353247.1:p.(Tyr329Cys)	NC_000004.11:g.2632844A>G	VUS	1 lab	96033228bb
16:70551624 COG4 C>T	16	70551624	70551624	C	T	COG4	c.274G>A	NM_015386.3	NP_056201.2:p.(Glu92Lys)	NC_000016.9:g.70551624C>T	VUS	1 lab	960344994f
11:118307413 KMT2A C>CGCG	11	118307413	118307429	C	CGCG	KMT2A	c.200_202dup	NM_001197104.2	NP_001184033.1:p.(Ala67dup)	NC_000011.9:g.118307427_118307429dup	(Likely) benign	1 lab	9605301fc7
5:67522844 PIK3R1 A>G	5	67522844	67522844	A	G	PIK3R1	c.334+7A>G	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67522844A>G	(Likely) benign	1 lab	9606859587
16:30100419 TBX6 G>A	16	30100419	30100419	G	A	TBX6	c.466C>T	NM_004608.4	NP_004599.2:p.(Arg156Trp)	NC_000016.9:g.30100419G>A	VUS	1 lab	9609243e37
5:147492500 SPINK5 A>T	5	147492500	147492500	A	T	SPINK5	c.1887+3A>T	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147492500A>T	(Likely) pathogenic	1 lab	960af1d12a
1:247597208 NLRP3 T>G	1	247597208	247597208	T	G	NLRP3	c.2322-197T>G	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597208T>G	(Likely) benign	1 lab	27e67e07ca
X:153006073 ABCD1 G>A	X	153006073	153006073	G	A	ABCD1	c.1680G>A	NM_000033.4	NP_000024.2:p.(Pro560=)	NC_000023.10:g.153006073G>A	(Likely) benign	1 lab	960de8093b
2:227963506 COL4A4 C>T	2	227963506	227963506	C	T	COL4A4	c.1108G>A	NM_000092.4	NP_000083.3:p.(Gly370Arg)	NC_000002.11:g.227963506C>T	(Likely) pathogenic	1 lab	27e7409073
2:143715262 KYNU T>A	2	143715262	143715262	T	A	KYNU	c.560T>A	NM_003937.3	NP_003928.1:p.(Met187Lys)	NC_000002.11:g.143715262T>A	VUS	1 lab	960e9aaedd
11:67759086 UNC93B1 G>C	11	67759086	67759086	G	C	UNC93B1	c.1725C>G	NM_030930.2	NP_112192.2:p.(Pro575=)	NC_000011.9:g.67759086G>C	(Likely) benign	1 lab	27e883e193
19:18897062 COMP T>A	19	18897062	18897062	T	A	COMP	c.1294A>T	NM_000095.3	NP_000086.2:p.(Ser432Cys)	NC_000019.9:g.18897062T>A	VUS	1 lab	960f4f9555
21:34927396 SON AAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCC>A	21	34927396	34927488	AAGCCGCCGCAGCCGCACCCCCAGCCGCCGCAGCCGCACCCCC	A	SON	c.5910_5951del	NM_032195.3	NP_115571.3:p.(Ser1985_Arg1998del)	NC_000021.8:g.34927447_34927488del	(Likely) benign	1 lab	263b47f1d0
2:152347012 NEB G>A	2	152347012	152347012	G	A	NEB	c.25171C>T	NM_001164508.2	NP_001157980.2:p.(Arg8391Trp)	NC_000002.11:g.152347012G>A	(Likely) benign	1 lab	960ff42c65
6:35211512 SCUBE3 CCAA>C	6	35211512	35211516	CCAA	C	SCUBE3	c.2053_2055del	NM_152753.4	NP_689966.2:p.(Asn685del)	NC_000006.11:g.35211514_35211516del	VUS	1 lab	960fffc401
9:140610897 EHMT1 GTGT>G	9	140610897	140610902	GTGT	G	EHMT1	c.86-178_86-176del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610900_140610902del	(Likely) benign	1 lab	9610a3c9c0
2:27668718 IFT172 A>G	2	27668718	27668718	A	G	IFT172	c.4816-8T>C	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27668718A>G	(Likely) benign	1 lab	961278bace
7:47942106 PKD1L1 T>C	7	47942106	47942106	T	C	PKD1L1	c.1934A>G	NM_138295.5	NP_612152.1:p.(Glu645Gly)	NC_000007.13:g.47942106T>C	VUS	1 lab	9615edd0a0
1:160000331 PIGM T>C	1	160000331	160000331	T	C	PIGM	c.1199A>G	NM_145167.3	NP_660150.1:p.(Asn400Ser)	NC_000001.10:g.160000331T>C	VUS	1 lab	96169a3051
2:1437283 TPO G>A	2	1437283	1437283	G	A	TPO	c.253G>A	NM_001206744.2	NP_001193673.1:p.(Gly85Arg)	NC_000002.11:g.1437283G>A	VUS	1 lab	96173f62ad
16:89347734 ANKRD11 C>T	16	89347734	89347734	C	T	ANKRD11	c.5216G>A	NM_013275.6	NP_037407.4:p.(Cys1739Tyr)	NC_000016.9:g.89347734C>T	(Likely) benign	1 lab	96188ba184
20:58467441 SYCP2 GGAT>G	20	58467441	58467447	GGAT	G	SYCP2	c.1965_1967del	NM_014258.4	NP_055073.2:p.(Ser658del)	NC_000020.10:g.58467445_58467447del	VUS	1 lab	9618fe9ff5
16:89351461 ANKRD11 C>T	16	89351461	89351461	C	T	ANKRD11	c.1489G>A	NM_013275.6	NP_037407.4:p.(Gly497Arg)	NC_000016.9:g.89351461C>T	(Likely) benign	1 lab	961c482303
X:118221933 KIAA1210 G>A	X	118221933	118221933	G	A	KIAA1210	c.2732C>T	NM_001394962.1	NP_001381891.1:p.(Pro911Leu)	NC_000023.10:g.118221933G>A	VUS	1 lab	961c4f4a70
15:89859669 FANCI CAAG>C	15	89859669	89859677	CAAG	C	FANCI	c.3972_3974del	NM_001113378.2	NP_001106849.1:p.(Lys1325del)	NC_000015.9:g.89859675_89859677del	VUS	1 lab	961ccf6ff4
20:34021940 GDF5 C>T	20	34021940	34021940	C	T	GDF5	c.1273G>A	NM_000557.5	NP_000548.2:p.(Glu425Lys)	NC_000020.10:g.34021940C>T	VUS	1 lab	961d3ea77a
X:47307517 ZNF41 T>C	X	47307517	47307517	T	C	ZNF41	c.1652A>G	NM_001324144.2	NP_001311073.1:p.(Tyr551Cys)	NC_000023.10:g.47307517T>C	VUS	1 lab	961edbd73f
17:7230203 NEURL4 C>T	17	7230203	7230203	C	T	NEURL4	c.919G>A	NM_032442.3	NP_115818.2:p.(Ala307Thr)	NC_000017.10:g.7230203C>T	VUS	1 lab	96205ae79f
16:30744954 SRCAP G>A	16	30744954	30744954	G	A	SRCAP	c.6329G>A	NM_006662.3	NP_006653.2:p.(Arg2110His)	NC_000016.9:g.30744954G>A	VUS	1 lab	9620d98e69
17:7120478 DLG4 T>C	17	7120478	7120478	T	C	DLG4	c.-12A>G	NM_001321075.3	NP_001308004.1:p.?	NC_000017.10:g.7120478T>C	VUS	1 lab	9621160b62
X:46359331 ZNF674 T>G	X	46359331	46359331	T	G	ZNF674	c.1678A>C	NM_001190417.2	NP_001177346.1:p.(Lys560Gln)	NC_000023.10:g.46359331T>G	(Likely) benign	1 lab	9623367d43
20:34798970 EPB41L1 G>T	20	34798970	34798970	G	T	EPB41L1	c.2079+1150G>T	NM_012156.2	NP_036288.2:p.?	NC_000020.10:g.34798970G>T	(Likely) benign	1 lab	96247e7bd5
5:176814861 SLC34A1 A>T	5	176814861	176814861	A	T	SLC34A1	c.631A>T	NM_003052.5	NP_003043.3:p.(Thr211Ser)	NC_000005.9:g.176814861A>T	VUS	1 lab	9624aafe0c
15:65917171 SLC24A1 AAT>A	15	65917171	65917173	AAT	A	SLC24A1	c.754_755del	NM_004727.3	NP_004718.1:p.(Met252ValfsTer2)	NC_000015.9:g.65917172_65917173del	(Likely) pathogenic	1 lab	962565a5d9
6:143091240 HIVEP2 C>T	6	143091240	143091240	C	T	HIVEP2	c.4636G>A	NM_006734.4	NP_006725.3:p.(Gly1546Ser)	NC_000006.11:g.143091240C>T	(Likely) benign	1 lab	96257c4dcd
19:11364335 DOCK6 G>A	19	11364335	11364335	G	A	DOCK6	c.112C>T	NM_020812.4	NP_065863.2:p.(Arg38Cys)	NC_000019.9:g.11364335G>A	VUS	1 lab	9625871d85
16:2812708 SRRM2 T>C	16	2812708	2812708	T	C	SRRM2	c.2179T>C	NM_016333.4	NP_057417.3:p.(Ser727Pro)	NC_000016.9:g.2812708T>C	VUS	1 lab	9625aa0ad3
1:8421328 RERE C>A	1	8421328	8421328	C	A	RERE	c.2239G>T	NM_001042681.2	NP_001036146.1:p.(Val747Phe)	NC_000001.10:g.8421328C>A	(Likely) benign	1 lab	9627e2492d
3:48508923 TREX1 C>T	3	48508923	48508923	C	T	TREX1	c.869C>T	NM_033629.6	NP_338599.1:p.(Pro290Leu)	NC_000003.11:g.48508923C>T	VUS	1 lab	96293e2b69
1:27660690 TMEM222 A>G	1	27660690	27660690	A	G	TMEM222	c.457A>G	NM_032125.3	NP_115501.2:p.(Asn153Asp)	NC_000001.10:g.27660690A>G	VUS	1 lab	962b41eb62
11:107427713 ALKBH8 T>C	11	107427713	107427713	T	C	ALKBH8	c.146A>G	NM_138775.3	NP_620130.2:p.(Asn49Ser)	NC_000011.9:g.107427713T>C	(Likely) benign	1 lab	962bb9d2c5
8:144893161 SCRIB G>A	8	144893161	144893161	G	A	SCRIB	c.1188C>T	NM_182706.5	NP_874365.3:p.(Leu396=)	NC_000008.10:g.144893161G>A	(Likely) benign	1 lab	962bd537e2
4:26661234 TBC1D19 C>T	4	26661234	26661234	C	T	TBC1D19	c.496C>T	NM_018317.4	NP_060787.2:p.(Arg166Cys)	NC_000004.11:g.26661234C>T	VUS	1 lab	962c17b4d9
18:2697047 SMCHD1 A>G	18	2697047	2697047	A	G	SMCHD1	c.1058A>G	NM_015295.3	NP_056110.2:p.(Tyr353Cys)	NC_000018.9:g.2697047A>G	(Likely) pathogenic	1 lab	962c613256
12:27786283 PPFIBP1 A>AT	12	27786283	27786291	A	AT	PPFIBP1	c.-35-4dup	NM_003622.4	NP_003613.4:p.?	NC_000012.11:g.27786291dup	(Likely) benign	1 lab	962cff7509
6:39874453 MOCS1 C>T	6	39874453	39874453	C	T	MOCS1	c.1591G>A	NM_001358530.2	NP_001345459.1:p.(Asp531Asn)	NC_000006.11:g.39874453C>T	VUS	1 lab	962e0644a8
7:45957042 IGFBP3 A>C	7	45957042	45957042	A	C	IGFBP3	c.404-4T>G	NM_000598.5	NP_000589.2:p.?	NC_000007.13:g.45957042A>C	(Likely) benign	1 lab	962e64bc0f
10:50678287 ERCC6 C>A	10	50678287	50678287	C	A	ERCC6	c.3719G>T	NM_000124.4	NP_000115.1:p.(Ser1240Ile)	NC_000010.10:g.50678287C>A	VUS	1 lab	962f4da421
15:89401043 ACAN C>T	15	89401043	89401043	C	T	ACAN	c.5227C>T	NM_001369268.1	NP_001356197.1:p.(Pro1743Ser)	NC_000015.9:g.89401043C>T	VUS	1 lab	962fbba2a0
19:38943603 RYR1 G>A	19	38943603	38943603	G	A	RYR1	c.1389G>A	NM_000540.3	NP_000531.2:p.(Lys463=)	NC_000019.9:g.38943603G>A	VUS	1 lab	963133071d
1:197112930 ASPM CA>C	1	197112930	197112933	CA	C	ASPM	c.451del	NM_018136.5	NP_060606.3:p.(Trp151GlyfsTer50)	NC_000001.10:g.197112933del	(Likely) pathogenic	1 lab	27ec5353ec
7:135304646 NUP205 G>A	7	135304646	135304646	G	A	NUP205	c.4330+10G>A	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135304646G>A	(Likely) benign	1 lab	27f257a91d
20:43057005 HNF4A AC>A	20	43057005	43057010	AC	A	HNF4A	c.1165del	NM_000457.5	NP_000448.3:p.(Leu389CysfsTer5)	NC_000020.10:g.43057010del	(Likely) pathogenic	1 lab	9631f42bee
8:145002123 PLEC C>G	8	145002123	145002123	C	G	PLEC	c.3298G>C	NM_201384.3	NP_958786.1:p.(Gly1100Arg)	NC_000008.10:g.145002123C>G	VUS	1 lab	963212c49c
2:178301589 AGPS A>G	2	178301589	178301589	A	G	AGPS	c.539A>G	NM_003659.4	NP_003650.1:p.(Asp180Gly)	NC_000002.11:g.178301589A>G	(Likely) benign	1 lab	96322f472a
8:144999032 PLEC G>A	8	144999032	144999032	G	A	PLEC	c.5065C>T	NM_201384.3	NP_958786.1:p.(Leu1689=)	NC_000008.10:g.144999032G>A	VUS	1 lab	9632755ead
18:56054668 NEDD4L C>T	18	56054668	56054668	C	T	NEDD4L	c.2488-3C>T	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56054668C>T	(Likely) benign	1 lab	963335c25b
5:38489294 LIFR A>C	5	38489294	38489294	A	C	LIFR	c.2221T>G	NM_001127671.2	NP_001121143.1:p.(Leu741Val)	NC_000005.9:g.38489294A>C	(Likely) benign	1 lab	9633b23a43
7:128049946 IMPDH1 GCC>G	7	128049946	128049950	GCC	G	IMPDH1	c.8_9del	NM_000883.4	NP_000874.2:p.(Gly3AlafsTer48)	NC_000007.13:g.128049949_128049950del	VUS	1 lab	96342049ea
11:4132858 RRM1 A>T	11	4132858	4132858	A	T	RRM1	c.475A>T	NM_001033.5	NP_001024.1:p.(Ile159Phe)	NC_000011.9:g.4132858A>T	(Likely) benign	1 lab	9636b07c84
6:35207648 SCUBE3 C>G	6	35207648	35207648	C	G	SCUBE3	c.949C>G	NM_152753.4	NP_689966.2:p.(Gln317Glu)	NC_000006.11:g.35207648C>G	VUS	1 lab	9637dd5c18
5:78280872 ARSB A>T	5	78280872	78280872	A	T	ARSB	c.200T>A	NM_000046.5	NP_000037.2:p.(Ile67Asn)	NC_000005.9:g.78280872A>T	VUS	1 lab	96385a3893
15:43317071 UBR1 T>C	15	43317071	43317071	T	C	UBR1	c.2695A>G	NM_174916.3	NP_777576.1:p.(Ile899Val)	NC_000015.9:g.43317071T>C	(Likely) benign	1 lab	963a40fbeb
17:7417024 POLR2A A>G	17	7417024	7417024	A	G	POLR2A	c.5441A>G	NM_000937.5	NP_000928.1:p.(Gln1814Arg)	NC_000017.10:g.7417024A>G	(Likely) benign	1 lab	963b1d6e92
1:152283295 FLG C>G	1	152283295	152283295	C	G	FLG	c.4067G>C	NM_002016.2	NP_002007.1:p.(Arg1356Thr)	NC_000001.10:g.152283295C>G	(Likely) benign	1 lab	963cfad3a7
3:111886139 SLC9C1 A>C	3	111886139	111886139	A	C	SLC9C1	c.3293T>G	NM_183061.3	NP_898884.1:p.(Met1098Arg)	NC_000003.11:g.111886139A>C	(Likely) benign	1 lab	963d001335
10:73588683 PSAP G>A	10	73588683	73588683	G	A	PSAP	c.527C>T	NM_002778.4	NP_002769.1:p.(Pro176Leu)	NC_000010.10:g.73588683G>A	VUS	1 lab	963d9c9186
11:118392771 KMT2A C>T	11	118392771	118392771	C	T	KMT2A	c.11803C>T	NM_001197104.2	NP_001184033.1:p.(Arg3935Cys)	NC_000011.9:g.118392771C>T	VUS	1 lab	963dceda91
4:74450890 RASSF6 C>G	4	74450890	74450890	C	G	RASSF6	c.567+7G>C	NM_177532.5	NP_803876.1:p.?	NC_000004.11:g.74450890C>G	(Likely) benign	1 lab	963e8d92c8
X:34962204 FAM47B G>C	X	34962204	34962204	G	C	FAM47B	c.1256G>C	NM_152631.3	NP_689844.2:p.(Arg419Pro)	NC_000023.10:g.34962204G>C	VUS	1 lab	964241a245
16:2152602 PKD1 TTCAGATGGTAA>T	16	2152602	2152613	TTCAGATGGTAA	T	PKD1	c.8970_8980del	NM_001009944.3	NP_001009944.3:p.(Ser2990ArgfsTer75)	NC_000016.9:g.2152603_2152613del	(Likely) pathogenic	1 lab	9642ba27a0
6:51768455 PKHD1 G>A	6	51768455	51768455	G	A	PKHD1	c.6936C>T	NM_138694.4	NP_619639.3:p.(Ser2312=)	NC_000006.11:g.51768455G>A	(Likely) benign	1 lab	9642e54631
11:66001629 PACS1 G>C	11	66001629	66001629	G	C	PACS1	c.2020G>C	NM_018026.4	NP_060496.2:p.(Gly674Arg)	NC_000011.9:g.66001629G>C	VUS	1 lab	96441c591b
13:48528575 SUCLA2 G>A	13	48528575	48528575	G	A	SUCLA2	c.920C>T	NM_003850.3	NP_003841.1:p.(Ala307Val)	NC_000013.10:g.48528575G>A	(Likely) pathogenic	1 lab	263c432481
1:27877903 AHDC1 C>T	1	27877903	27877903	C	T	AHDC1	c.724G>A	NM_001371928.1	NP_001358857.1:p.(Ala242Thr)	NC_000001.10:g.27877903C>T	VUS	1 lab	9649250f4b
12:6442941 TNFRSF1A T>A	12	6442941	6442941	T	A	TNFRSF1A	c.284A>T	NM_001065.3	NP_001056.1:p.(His95Leu)	NC_000012.11:g.6442941T>A	(Likely) pathogenic	1 lab	27f788e9de
7:152103073 KMT2C CAG>C	7	152103073	152103076	CAG	C	KMT2C	c.161+29636_161+29637del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152103075_152103076del	(Likely) benign	1 lab	9654f7e4ea
9:131397367 DYNC2I2 G>A	9	131397367	131397367	G	A	DYNC2I2	c.981+4C>T	NM_052844.4	NP_443076.2:p.?	NC_000009.11:g.131397367G>A	(Likely) benign	1 lab	9655510df9
19:14046615 PODNL1 C>T	19	14046615	14046615	C	T	PODNL1	c.413G>A	NM_001370095.3	NP_001357024.2:p.(Arg138Gln)	NC_000019.9:g.14046615C>T	(Likely) benign	1 lab	9655c042b7
X:130215721 ARHGAP36 T>C	X	130215721	130215721	T	C	ARHGAP36	c.82T>C	NM_144967.4	NP_659404.2:p.(Phe28Leu)	NC_000023.10:g.130215721T>C	(Likely) benign	1 lab	96567bb733
15:93545574 CHD2 A>G	15	93545574	93545574	A	G	CHD2	c.4278+27A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545574A>G	(Likely) benign	1 lab	27f806a4ab
7:65551571 ASL G>A	7	65551571	65551571	G	A	ASL	c.447-1G>A	NM_001024943.2	NP_001020114.1:p.?	NC_000007.13:g.65551571G>A	(Likely) pathogenic	1 lab	263f578de1
2:5833130 SOX11 A>T	2	5833130	5833130	A	T	SOX11	c.277A>T	NM_003108.4	NP_003099.1:p.(Ser93Cys)	NC_000002.11:g.5833130A>T	VUS	1 lab	96596e23c9
1:31409585 PUM1 A>AG	1	31409585	31409587	A	AG	PUM1	c.3339dup	NM_001020658.2	NP_001018494.1:p.(Tyr1115IlefsTer18)	NC_000001.10:g.31409587dup	VUS	1 lab	965a19b32e
20:57466902 GNAS C>A	20	57466902	57466902	C	A	GNAS	c.121C>A	NM_000516.7	NP_000507.1:p.(His41Asn)	NC_000020.10:g.57466902C>A	VUS	1 lab	965a8b9c59
11:118342866 KMT2A G>C	11	118342866	118342866	G	C	KMT2A	c.992G>C	NM_001197104.2	NP_001184033.1:p.(Arg331Pro)	NC_000011.9:g.118342866G>C	VUS	1 lab	965eebb7c5
1:225600200 LBR C>T	1	225600200	225600200	C	T	LBR	c.1040G>A	NM_002296.4	NP_002287.2:p.(Arg347His)	NC_000001.10:g.225600200C>T	VUS	1 lab	965f65de28
2:109379992 RANBP2 A>G	2	109379992	109379992	A	G	RANBP2	c.2997A>G	NM_006267.4	NP_006258.3:p.(Ile999Met)	NC_000002.11:g.109379992A>G	(Likely) benign	1 lab	27f8791df8
10:18828340 CACNB2 C>G	10	18828340	18828340	C	G	CACNB2	c.1505C>G	NM_000724.4	NP_000715.2:p.(Ser502Trp)	NC_000010.10:g.18828340C>G	VUS	1 lab	27f95b80ef
16:2215593 TRAF7 G>T	16	2215593	2215593	G	T	TRAF7	c.82-287G>T	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2215593G>T	(Likely) benign	1 lab	96629a4dab
4:3495064 DOK7 C>T	4	3495064	3495064	C	T	DOK7	c.1351C>T	NM_173660.5	NP_775931.3:p.(Arg451Trp)	NC_000004.11:g.3495064C>T	(Likely) benign	1 lab	96653409ae
22:36690349 MYH9 C>T	22	36690349	36690349	C	T	MYH9	c.3631-5G>A	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36690349C>T	VUS	1 lab	96c4486754
2:64114781 UGP2 A>G	2	64114781	64114781	A	G	UGP2	c.1314+3A>G	NM_006759.4	NP_006750.3:p.?	NC_000002.11:g.64114781A>G	VUS	1 lab	96661911df
2:47601142 EPCAM C>T	2	47601142	47601142	C	T	EPCAM	c.380C>T	NM_002354.3	NP_002345.2:p.(Thr127Ile)	NC_000002.11:g.47601142C>T	VUS	1 lab	9667009a5d
14:60337344 RTN1 G>A	14	60337344	60337344	G	A	RTN1	c.5C>T	NM_021136.3	NP_066959.1:p.(Ala2Val)	NC_000014.8:g.60337344G>A	VUS	1 lab	96670ca8b7
16:2140512 PKD1 G>A	16	2140512	2140512	G	A	PKD1	c.12218C>T	NM_001009944.3	NP_001009944.3:p.(Thr4073Ile)	NC_000016.9:g.2140512G>A	VUS	1 lab	96674f747a
19:14271039 ADGRL1 G>A	19	14271039	14271039	G	A	ADGRL1	c.1685C>T	NM_014921.5	NP_055736.2:p.(Ala562Val)	NC_000019.9:g.14271039G>A	(Likely) benign	1 lab	966c7f0387
7:65447146 GUSB A>G	7	65447146	65447146	A	G	GUSB	c.25T>C	NM_000181.4	NP_000172.2:p.(Trp9Arg)	NC_000007.13:g.65447146A>G	VUS	1 lab	966d93fdbf
1:149895819 SF3B4 G>A	1	149895819	149895819	G	A	SF3B4	c.1001C>T	NM_005850.5	NP_005841.1:p.(Pro334Leu)	NC_000001.10:g.149895819G>A	(Likely) benign	1 lab	966f572d3e
X:153629183 RPL10 C>T	X	153629183	153629183	C	T	RPL10	c.633C>T	NM_006013.5	NP_006004.3:p.(Ala211=)	NC_000023.10:g.153629183C>T	(Likely) benign	1 lab	9683800473
3:195510326 MUC4 CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT>C	3	195510326	195510484	CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT	C	MUC4	c.7981_8124del	NM_018406.7	NP_060876.5:p.(Ser2661_Thr2708del)	NC_000003.11:g.195510341_195510484del	(Likely) benign	1 lab	96754c0f0a
2:219254672 SLC11A1 T>C	2	219254672	219254672	T	C	SLC11A1	c.875T>C	NM_000578.4	NP_000569.3:p.(Leu292Pro)	NC_000002.11:g.219254672T>C	VUS	1 lab	96756c0f7b
5:148577903 ABLIM3 C>T	5	148577903	148577903	C	T	ABLIM3	c.273C>T	NM_014945.5	NP_055760.1:p.(Gly91=)	NC_000005.9:g.148577903C>T	VUS	1 lab	96758c895e
5:167812255 WWC1 G>A	5	167812255	167812255	G	A	WWC1	c.269G>A	NM_015238.3	NP_056053.1:p.(Arg90Gln)	NC_000005.9:g.167812255G>A	VUS	1 lab	96759634c0
20:36776379 TGM2 C>T	20	36776379	36776379	C	T	TGM2	c.665G>A	NM_004613.4	NP_004604.2:p.(Arg222Gln)	NC_000020.10:g.36776379C>T	(Likely) benign	1 lab	9675d2e0e8
9:124076329 GSN G>A	9	124076329	124076329	G	A	GSN	c.753+28G>A	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124076329G>A	(Likely) benign	1 lab	9848487ea3
10:21806333 SKIDA1 C>A	10	21806333	21806333	C	A	SKIDA1	c.419G>T	NM_207371.4	NP_997254.3:p.(Arg140Leu)	NC_000010.10:g.21806333C>A	(Likely) benign	1 lab	9679f6fe33
6:129785469 LAMA2 T>C	6	129785469	129785469	T	C	LAMA2	c.7027T>C	NM_000426.4	NP_000417.3:p.(Phe2343Leu)	NC_000006.11:g.129785469T>C	VUS	1 lab	967a5cc618
9:135942338 CEL C>T	9	135942338	135942338	C	T	CEL	c.777+6C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942338C>T	(Likely) benign	1 lab	9690e77cda
1:151259549 ZNF687 CCTT>C	1	151259549	151259556	CCTT	C	ZNF687	c.787_789del	NM_020832.3	NP_065883.1:p.(Phe263del)	NC_000001.10:g.151259554_151259556del	VUS	1 lab	967a973010
20:44575770 PCIF1 G>A	20	44575770	44575770	G	A	PCIF1	c.1672G>A	NM_022104.4	NP_071387.1:p.(Glu558Lys)	NC_000020.10:g.44575770G>A	VUS	1 lab	967af1d519
9:711584 KANK1 G>A	9	711584	711584	G	A	KANK1	c.818G>A	NM_015158.5	NP_055973.2:p.(Arg273His)	NC_000009.11:g.711584G>A	(Likely) benign	1 lab	967b4b6253
7:128493887 FLNC C>T	7	128493887	128493887	C	T	FLNC	c.6480C>T	NM_001458.5	NP_001449.3:p.(Ile2160=)	NC_000007.13:g.128493887C>T	(Likely) benign	1 lab	967daabf31
1:5967245 NPHP4 G>A	1	5967245	5967245	G	A	NPHP4	c.1541C>T	NM_015102.5	NP_055917.1:p.(Pro514Leu)	NC_000001.10:g.5967245G>A	VUS	1 lab	967ebaaa7b
1:27877465 AHDC1 C>A	1	27877465	27877465	C	A	AHDC1	c.1162G>T	NM_001371928.1	NP_001358857.1:p.(Asp388Tyr)	NC_000001.10:g.27877465C>A	VUS	1 lab	967f45ad7b
1:32207269 ADGRB2 G>A	1	32207269	32207269	G	A	ADGRB2	c.1643C>T	NM_001364857.2	NP_001351786.1:p.(Ala548Val)	NC_000001.10:g.32207269G>A	VUS	1 lab	96823fdb98
5:13807720 DNAH5 T>C	5	13807720	13807720	T	C	DNAH5	c.7867A>G	NM_001369.3	NP_001360.1:p.(Thr2623Ala)	NC_000005.9:g.13807720T>C	VUS	1 lab	9684b95f8b
1:12017011 PLOD1 A>G	1	12017011	12017011	A	G	PLOD1	c.681A>G	NM_000302.4	NP_000293.2:p.(Arg227=)	NC_000001.10:g.12017011A>G	(Likely) benign	1 lab	96861e50d8
15:93545392 CHD2 T>G	15	93545392	93545392	T	G	CHD2	c.4138-15T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545392T>G	(Likely) benign	1 lab	27fab67c40
5:37059102 NIPBL T>TAGATTC	5	37059102	37059129	T	TAGATTC	NIPBL	c.7542_7547dup	NM_133433.4	NP_597677.2:p.(Asp2514_Ser2515dup)	NC_000005.9:g.37059124_37059129dup	(Likely) benign	1 lab	968bc94f6a
10:92678745 ANKRD1 AT>A	10	92678745	92678746	AT	A	ANKRD1	c.346-17del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678746del	(Likely) benign	1 lab	264b763433
17:27863939 TAOK1 C>T	17	27863939	27863939	C	T	TAOK1	c.2544+2621C>T	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27863939C>T	(Likely) benign	1 lab	968c6a2e47
8:144992415 PLEC C>T	8	144992415	144992415	C	T	PLEC	c.11574G>A	NM_201384.3	NP_958786.1:p.(Thr3858=)	NC_000008.10:g.144992415C>T	(Likely) benign	1 lab	968fe06ae2
1:103405898 COL11A1 C>T	1	103405898	103405898	C	T	COL11A1	c.3369G>A	NM_001854.4	NP_001845.3:p.(Gly1123=)	NC_000001.10:g.103405898C>T	VUS	1 lab	96911cada0
16:84089631 MBTPS1 C>T	16	84089631	84089631	C	T	MBTPS1	c.2941G>A	NM_003791.4	NP_003782.1:p.(Gly981Ser)	NC_000016.9:g.84089631C>T	(Likely) benign	1 lab	9692a79d89
1:39816451 MACF1 G>A	1	39816451	39816451	G	A	MACF1	c.10966-6G>A	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39816451G>A	(Likely) benign	1 lab	969320a860
12:49436547 KMT2D G>A	12	49436547	49436547	G	A	KMT2D	c.5759C>T	NM_003482.4	NP_003473.3:p.(Pro1920Leu)	NC_000012.11:g.49436547G>A	VUS	1 lab	9693952519
6:42978901 PPP2R5D C>G	6	42978901	42978901	C	G	PPP2R5D	c.1686C>G	NM_006245.4	NP_006236.1:p.(Ile562Met)	NC_000006.11:g.42978901C>G	VUS	1 lab	96961c187e
5:127613658 FBN2 T>C	5	127613658	127613658	T	C	FBN2	c.7385A>G	NM_001999.4	NP_001990.2:p.(Asn2462Ser)	NC_000005.9:g.127613658T>C	(Likely) benign	1 lab	96977ee161
1:54681831 MRPL37 G>C	1	54681831	54681831	G	C	MRPL37	c.1008G>C	NM_016491.4	NP_057575.2:p.(Leu336Phe)	NC_000001.10:g.54681831G>C	VUS	1 lab	9698830e89
10:79567648 DLG5 G>C	10	79567648	79567648	G	C	DLG5	c.4702C>G	NM_004747.4	NP_004738.3:p.(Leu1568Val)	NC_000010.10:g.79567648G>C	VUS	1 lab	969935dea6
16:2812396 SRRM2 C>T	16	2812396	2812396	C	T	SRRM2	c.1867C>T	NM_016333.4	NP_057417.3:p.(Arg623Cys)	NC_000016.9:g.2812396C>T	VUS	1 lab	969b534df7
X:49837160 CLCN5 A>G	X	49837160	49837160	A	G	CLCN5	c.332A>G	NM_001127898.4	NP_001121370.1:p.(Lys111Arg)	NC_000023.10:g.49837160A>G	VUS	1 lab	969bcc52bc
22:26156948 MYO18B C>T	22	26156948	26156948	C	T	MYO18B	c.-109-3C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26156948C>T	VUS	1 lab	969c865df1
11:17409124 KCNJ11 G>C	11	17409124	17409124	G	C	KCNJ11	c.515C>G	NM_000525.4	NP_000516.3:p.(Ala172Gly)	NC_000011.9:g.17409124G>C	(Likely) pathogenic	1 lab	969c8a702f
1:100154643 PALMD C>T	1	100154643	100154643	C	T	PALMD	c.827C>T	NM_017734.5	NP_060204.1:p.(Thr276Met)	NC_000001.10:g.100154643C>T	(Likely) benign	1 lab	969c8f6e94
19:22941336 ZNF99 T>G	19	22941336	22941336	T	G	ZNF99	c.1375A>C	NM_001080409.3	NP_001073878.2:p.(Ser459Arg)	NC_000019.9:g.22941336T>G	(Likely) benign	1 lab	969f0a209e
X:54280400 WNK3 C>G	X	54280400	54280400	C	G	WNK3	c.2359G>C	NM_020922.5	NP_065973.2:p.(Asp787His)	NC_000023.10:g.54280400C>G	(Likely) benign	1 lab	96a07f410e
4:5624669 EVC2 G>A	4	5624669	5624669	G	A	EVC2	c.2096C>T	NM_147127.5	NP_667338.3:p.(Thr699Met)	NC_000004.11:g.5624669G>A	(Likely) benign	1 lab	96a0efeaa8
7:1785592 ELFN1 G>A	7	1785592	1785592	G	A	ELFN1	c.1360G>A	NM_001128636.4	NP_001122108.1:p.(Ala454Thr)	NC_000007.13:g.1785592G>A	VUS	1 lab	96a1ec7595
16:22545038 NPIPB5 A>G	16	22545038	22545038	A	G	NPIPB5	c.734A>G	NM_001395849.1	NP_001382778.1:p.(His245Arg)	NC_000016.9:g.22545038A>G	(Likely) benign	1 lab	96a2e4f35a
9:35806450 NPR2 T>C	9	35806450	35806450	T	C	NPR2	c.2434T>C	NM_003995.4	NP_003986.2:p.(Leu812=)	NC_000009.11:g.35806450T>C	(Likely) benign	1 lab	96a40ef646
8:10583872 SOX7 C>T	8	10583872	10583872	C	T	SOX7	c.543G>A	NM_031439.4	NP_113627.1:p.(Gly181=)	NC_000008.10:g.10583872C>T	(Likely) benign	1 lab	96a5b37cc2
5:900664 TRIP13 T>C	5	900664	900664	T	C	TRIP13	c.444T>C	NM_004237.4	NP_004228.1:p.(His148=)	NC_000005.9:g.900664T>C	(Likely) benign	1 lab	96a63db8a7
17:7406771 POLR2A G>T	17	7406771	7406771	G	T	POLR2A	c.2996G>T	NM_000937.5	NP_000928.1:p.(Arg999Leu)	NC_000017.10:g.7406771G>T	VUS	1 lab	96a6f0baf3
9:136401892 ADAMTSL2 G>A	9	136401892	136401892	G	A	ADAMTSL2	c.58G>A	NM_014694.4	NP_055509.2:p.(Val20Ile)	NC_000009.11:g.136401892G>A	(Likely) benign	1 lab	96a6feb79c
11:55111585 OR4A16 G>C	11	55111585	55111585	G	C	OR4A16	c.909G>C	NM_001005274.1	NP_001005274.1:p.(Lys303Asn)	NC_000011.9:g.55111585G>C	(Likely) benign	1 lab	96a8243fa2
9:139287056 SNAPC4 G>A	9	139287056	139287056	G	A	SNAPC4	c.738-10C>T	NM_003086.4	NP_003077.2:p.?	NC_000009.11:g.139287056G>A	VUS	1 lab	96a918e19b
17:38178315 MED24 G>A	17	38178315	38178315	G	A	MED24	c.2524-8C>T	NM_014815.4	NP_055630.2:p.?	NC_000017.10:g.38178315G>A	(Likely) benign	1 lab	96aaf8cc15
1:237729918 RYR2 G>A	1	237729918	237729918	G	A	RYR2	c.3266G>A	NM_001035.3	NP_001026.2:p.(Arg1089His)	NC_000001.10:g.237729918G>A	VUS	1 lab	96ab37a8d6
2:43010915 HAAO C>T	2	43010915	43010915	C	T	HAAO	c.243+9G>A	NM_012205.3	NP_036337.2:p.?	NC_000002.11:g.43010915C>T	(Likely) benign	1 lab	96ab83560d
11:20124807 NAV2 C>T	11	20124807	20124807	C	T	NAV2	c.6424C>T	NM_145117.5	NP_660093.2:p.(Arg2142Cys)	NC_000011.9:g.20124807C>T	(Likely) benign	1 lab	96abc45d2f
15:65369622 KBTBD13 T>G	15	65369622	65369622	T	G	KBTBD13	c.469T>G	NM_001101362.3	NP_001094832.1:p.(Tyr157Asp)	NC_000015.9:g.65369622T>G	VUS	1 lab	96acb50c1a
3:178952048 PIK3CA G>A	3	178952048	178952048	G	A	PIK3CA	c.3103G>A	NM_006218.4	NP_006209.2:p.(Ala1035Thr)	NC_000003.11:g.178952048G>A	(Likely) pathogenic	1 lab	96ae354bc9
X:77294933 ATP7A C>T	X	77294933	77294933	C	T	ATP7A	c.3658+453C>T	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77294933C>T	(Likely) benign	1 lab	96aec84401
16:837082 RPUSD1 G>A	16	837082	837082	G	A	RPUSD1	c.404C>T	NM_058192.3	NP_478072.1:p.(Ser135Leu)	NC_000016.9:g.837082G>A	VUS	1 lab	96b04a6b16
3:129324710 PLXND1 T>A	3	129324710	129324710	T	A	PLXND1	c.773A>T	NM_015103.3	NP_055918.3:p.(Asn258Ile)	NC_000003.11:g.129324710T>A	(Likely) benign	1 lab	96b2b0305f
16:67995561 SLC12A4 C>T	16	67995561	67995561	C	T	SLC12A4	c.259G>A	NM_005072.5	NP_005063.1:p.(Val87Ile)	NC_000016.9:g.67995561C>T	VUS	1 lab	96b4627e07
1:151384189 POGZ TG>T	1	151384189	151384191	TG	T	POGZ	c.1837del	NM_015100.4	NP_055915.2:p.(His613MetfsTer13)	NC_000001.10:g.151384191del	VUS	1 lab	96b4cd11cc
6:26156994 H1-4 G>A	6	26156994	26156994	G	A	H1-4	c.376G>A	NM_005321.3	NP_005312.1:p.(Ala126Thr)	NC_000006.11:g.26156994G>A	(Likely) benign	1 lab	96b58a938d
4:1804668 FGFR3 G>A	4	1804668	1804668	G	A	FGFR3	c.931-751G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804668G>A	(Likely) benign	1 lab	96b5b10da9
1:204124154 REN AAGGCGAAG>A	1	204124154	204124162	AAGGCGAAG	A	REN	c.1203_1210del	NM_000537.4	NP_000528.1:p.(Phe402GlyfsTer?)	NC_000001.10:g.204124155_204124162del	VUS	1 lab	96b62295f1
10:78704627 KCNMA1 T>C	10	78704627	78704627	T	C	KCNMA1	c.2806A>G	NM_001161352.2	NP_001154824.1:p.(Thr936Ala)	NC_000010.10:g.78704627T>C	VUS	1 lab	96b65f32a3
17:1628270 WDR81 G>C	17	1628270	1628270	G	C	WDR81	c.17G>C	NM_001163809.2	NP_001157281.1:p.(Gly6Ala)	NC_000017.10:g.1628270G>C	VUS	1 lab	96b731253e
X:29301108 IL1RAPL1 G>A	X	29301108	29301108	G	A	IL1RAPL1	c.136G>A	NM_014271.4	NP_055086.1:p.(Gly46Arg)	NC_000023.10:g.29301108G>A	VUS	1 lab	96b77c519c
16:30982785 SETD1A A>G	16	30982785	30982785	A	G	SETD1A	c.3103A>G	NM_014712.3	NP_055527.1:p.(Ser1035Gly)	NC_000016.9:g.30982785A>G	VUS	1 lab	96b89bed7f
2:179515484 TTN G>C	2	179515484	179515484	G	C	TTN	c.39703C>G	NM_001267550.2	NP_001254479.2:p.(Pro13235Ala)	NC_000002.11:g.179515484G>C	VUS	1 lab	96b8d8256a
6:152621859 SYNE1 C>T	6	152621859	152621859	C	T	SYNE1	c.17599G>A	NM_182961.4	NP_892006.3:p.(Glu5867Lys)	NC_000006.11:g.152621859C>T	VUS	1 lab	96b9cbb33a
12:133256556 POLE T>A	12	133256556	133256556	T	A	POLE	c.407A>T	NM_006231.4	NP_006222.2:p.(Lys136Ile)	NC_000012.11:g.133256556T>A	VUS	1 lab	96c5103953
2:160205766 BAZ2B C>T	2	160205766	160205766	C	T	BAZ2B	c.4889G>A	NM_013450.4	NP_038478.2:p.(Gly1630Glu)	NC_000002.11:g.160205766C>T	VUS	1 lab	96c6b29c7e
X:140993842 MAGEC1 C>CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTTCT	X	140993842	140993852	C	CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTTCT	MAGEC1	c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTTCTCTGAGAGAA	NM_005462.5	NP_005453.2:p.(Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLeuSerIlePheGlnSerPheSerGluArg)	NC_000023.10:g.140993851_140993852insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTTCTCTGAGAGAA	VUS	1 lab	96bb6c9957
14:77914828 VIPAS39 T>C	14	77914828	77914828	T	C	VIPAS39	c.504+9A>G	NM_001193315.2	NP_001180244.1:p.?	NC_000014.8:g.77914828T>C	(Likely) benign	1 lab	96bbce05cc
21:47856972 PCNT TG>T	21	47856972	47856973	TG	T	PCNT	c.9078del	NM_006031.6	NP_006022.3:p.(Ser3027AlafsTer23)	NC_000021.8:g.47856973del	(Likely) pathogenic	1 lab	96bbee183c
2:65561907 SPRED2 C>T	2	65561907	65561907	C	T	SPRED2	c.205G>A	NM_181784.3	NP_861449.2:p.(Val69Met)	NC_000002.11:g.65561907C>T	VUS	1 lab	96bcfb2e17
12:97102518 CFAP54 C>G	12	97102518	97102518	C	G	CFAP54	c.6661C>G	NM_001306084.2	NP_001293013.1:p.(Pro2221Ala)	NC_000012.11:g.97102518C>G	(Likely) benign	1 lab	96bfd3c3b4
11:17409547 KCNJ11 C>A	11	17409547	17409547	C	A	KCNJ11	c.92G>T	NM_000525.4	NP_000516.3:p.(Arg31Leu)	NC_000011.9:g.17409547C>A	VUS	1 lab	96c0704a64
X:47041645 RBM10 G>A	X	47041645	47041645	G	A	RBM10	c.1870G>A	NM_005676.5	NP_005667.2:p.(Asp624Asn)	NC_000023.10:g.47041645G>A	VUS	1 lab	96cf28b7ef
X:41471000 CASK G>C	X	41471000	41471000	G	C	CASK	c.1034-1722C>G	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41471000G>C	(Likely) benign	1 lab	96c1400226
22:40055505 CACNA1I G>A	22	40055505	40055505	G	A	CACNA1I	c.2398G>A	NM_021096.4	NP_066919.2:p.(Asp800Asn)	NC_000022.10:g.40055505G>A	(Likely) benign	1 lab	96c1cfec59
11:108139334 ATM A>G	11	108139334	108139334	A	G	ATM	c.2836A>G	NM_000051.4	NP_000042.3:p.(Met946Val)	NC_000011.9:g.108139334A>G	VUS	1 lab	96c31ffbed
1:171605810 MYOC A>G	1	171605810	171605810	A	G	MYOC	c.770T>C	NM_000261.2	NP_000252.1:p.(Leu257Pro)	NC_000001.10:g.171605810A>G	VUS	1 lab	96c3f028d9
5:170668064 RANBP17 A>C	5	170668064	170668064	A	C	RANBP17	c.2555A>C	NM_022897.5	NP_075048.1:p.(Lys852Thr)	NC_000005.9:g.170668064A>C	(Likely) benign	1 lab	96c4764d7e
5:71492775 MAP1B A>G	5	71492775	71492775	A	G	MAP1B	c.3593A>G	NM_005909.5	NP_005900.2:p.(Lys1198Arg)	NC_000005.9:g.71492775A>G	VUS	1 lab	96c810b380
18:11881055 GNAL CAG>C	18	11881055	11881060	CAG	C	GNAL	c.1302_1303del	NM_182978.4	NP_892023.1:p.(Asn435HisfsTer21)	NC_000018.9:g.11881059_11881060del	(Likely) pathogenic	1 lab	264ed109b3
19:17838102 MAP1S C>T	19	17838102	17838102	C	T	MAP1S	c.1909C>T	NM_018174.6	NP_060644.4:p.(Arg637Cys)	NC_000019.9:g.17838102C>T	VUS	1 lab	96cb042bd0
10:105006138 RPEL1 G>T	10	105006138	105006138	G	T	RPEL1	c.385G>T	NM_001143909.1	NP_001137381.1:p.(Ala129Ser)	NC_000010.10:g.105006138G>T	VUS	1 lab	96cb655a07
3:123420289 MYLK G>C	3	123420289	123420289	G	C	MYLK	c.2458C>G	NM_053025.3	NP_444253.3:p.(Pro820Ala)	NC_000003.11:g.123420289G>C	VUS	1 lab	2808a50812
17:60023908 MED13 G>C	17	60023908	60023908	G	C	MED13	c.6446C>G	NM_005121.3	NP_005112.2:p.(Thr2149Ser)	NC_000017.10:g.60023908G>C	(Likely) benign	1 lab	96cdc2097d
17:29527455 NF1 A>G	17	29527455	29527455	A	G	NF1	c.904A>G	NM_001042492.3	NP_001035957.1:p.(Ser302Gly)	NC_000017.10:g.29527455A>G	(Likely) benign	1 lab	96ce5cd09e
5:60826033 ZSWIM6 C>A	5	60826033	60826033	C	A	ZSWIM6	c.1984+8C>A	NM_020928.2	NP_065979.1:p.?	NC_000005.9:g.60826033C>A	(Likely) benign	1 lab	96cfc02d42
12:49391001 DDN G>A	12	49391001	49391001	G	A	DDN	c.1658C>T	NM_015086.2	NP_055901.2:p.(Ala553Val)	NC_000012.11:g.49391001G>A	(Likely) benign	1 lab	96d08c352d
2:27458134 CAD C>T	2	27458134	27458134	C	T	CAD	c.3808C>T	NM_004341.5	NP_004332.2:p.(Arg1270Cys)	NC_000002.11:g.27458134C>T	VUS	1 lab	96d0da6ca2
10:101961839 CHUK T>G	10	101961839	101961839	T	G	CHUK	c.1569+6A>C	NM_001278.5	NP_001269.3:p.?	NC_000010.10:g.101961839T>G	(Likely) benign	1 lab	96d21b3626
2:73651694 ALMS1 A>C	2	73651694	73651694	A	C	ALMS1	c.901A>C	NM_001378454.1	NP_001365383.1:p.(Ile301Leu)	NC_000002.11:g.73651694A>C	(Likely) benign	1 lab	96d2b6887b
18:29648306 RNF125 C>T	18	29648306	29648306	C	T	RNF125	c.658C>T	NM_017831.4	NP_060301.2:p.(Arg220Trp)	NC_000018.9:g.29648306C>T	(Likely) benign	1 lab	96d3dcfee8
10:73115914 SLC29A3 C>T	10	73115914	73115914	C	T	SLC29A3	c.687C>T	NM_018344.6	NP_060814.4:p.(Ser229=)	NC_000010.10:g.73115914C>T	(Likely) benign	1 lab	280d66fed9
X:137793091 FGF13 G>A	X	137793091	137793091	G	A	FGF13	c.75C>T	NM_004114.5	NP_004105.1:p.(Cys25=)	NC_000023.10:g.137793091G>A	(Likely) benign	1 lab	96d48d5a5e
1:214625184 PTPN14 A>G	1	214625184	214625184	A	G	PTPN14	c.308T>C	NM_005401.5	NP_005392.2:p.(Val103Ala)	NC_000001.10:g.214625184A>G	VUS	1 lab	96d4c574ec
X:10174530 CLCN4 G>A	X	10174530	10174530	G	A	CLCN4	c.688G>A	NM_001830.4	NP_001821.2:p.(Val230Met)	NC_000023.10:g.10174530G>A	VUS	1 lab	96d8bdd3d1
X:48650509 GATA1 A>G	X	48650509	48650509	A	G	GATA1	c.479A>G	NM_002049.4	NP_002040.1:p.(Asn160Ser)	NC_000023.10:g.48650509A>G	VUS	1 lab	96daa94d7d
11:103112284 DYNC2H1 C>G	11	103112284	103112284	C	G	DYNC2H1	c.9820-2138C>G	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103112284C>G	(Likely) benign	1 lab	96db553e0e
5:176943789 DDX41 C>T	5	176943789	176943789	C	T	DDX41	c.75G>A	NM_016222.4	NP_057306.2:p.(Ala25=)	NC_000005.9:g.176943789C>T	(Likely) benign	1 lab	3344d40d5d
4:2829394 SH3BP2 G>C	4	2829394	2829394	G	C	SH3BP2	c.579G>C	NM_001122681.2	NP_001116153.1:p.(Arg193Ser)	NC_000004.11:g.2829394G>C	(Likely) benign	1 lab	96dc6042e0
15:89382240 ACAN C>T	15	89382240	89382240	C	T	ACAN	c.417C>T	NM_001369268.1	NP_001356197.1:p.(Ile139=)	NC_000015.9:g.89382240C>T	(Likely) benign	1 lab	96dd75351c
16:3819311 CREBBP G>A	16	3819311	3819311	G	A	CREBBP	c.2924C>T	NM_004380.3	NP_004371.2:p.(Pro975Leu)	NC_000016.9:g.3819311G>A	VUS	1 lab	96de1d8592
X:153660787 ATP6AP1 G>A	X	153660787	153660787	G	A	ATP6AP1	c.539G>A	NM_001183.6	NP_001174.2:p.(Arg180His)	NC_000023.10:g.153660787G>A	VUS	1 lab	96de47d7b9
2:179600307 TTN C>G	2	179600307	179600307	C	G	TTN	c.14866G>C	NM_001267550.2	NP_001254479.2:p.(Gly4956Arg)	NC_000002.11:g.179600307C>G	(Likely) benign	1 lab	96def9411b
2:149633242 KIF5C A>G	2	149633242	149633242	A	G	KIF5C	c.56A>G	NM_004522.3	NP_004513.1:p.(Asn19Ser)	NC_000002.11:g.149633242A>G	VUS	1 lab	265164bb23
X:100274042 TRMT2B C>T	X	100274042	100274042	C	T	TRMT2B	c.1306G>A	NM_024917.6	NP_079193.2:p.(Ala436Thr)	NC_000023.10:g.100274042C>T	(Likely) benign	1 lab	96e0e241e3
10:73498297 CDH23 T>G	10	73498297	73498297	T	G	CDH23	c.4252T>G	NM_022124.6	NP_071407.4:p.(Phe1418Val)	NC_000010.10:g.73498297T>G	VUS	1 lab	96e1118e06
16:3486829 ZNF597 G>T	16	3486829	3486829	G	T	ZNF597	c.870C>A	NM_152457.3	NP_689670.1:p.(Phe290Leu)	NC_000016.9:g.3486829G>T	VUS	1 lab	96e26274aa
3:186504439 EIF4A2 C>T	3	186504439	186504439	C	T	EIF4A2	c.771+5C>T	NM_001967.4	NP_001958.2:p.?	NC_000003.11:g.186504439C>T	(Likely) benign	1 lab	96e2696e99
1:22182127 HSPG2 C>T	1	22182127	22182127	C	T	HSPG2	c.5743G>A	NM_005529.7	NP_005520.4:p.(Gly1915Ser)	NC_000001.10:g.22182127C>T	(Likely) benign	1 lab	96e36039f8
10:50736541 ERCC6 G>A	10	50736541	50736541	G	A	ERCC6	c.574C>T	NM_000124.4	NP_000115.1:p.(Gln192Ter)	NC_000010.10:g.50736541G>A	(Likely) pathogenic	1 lab	96e7126a7b
7:7476040 COL28A1 TAG>T	7	7476040	7476043	TAG	T	COL28A1	c.1844_1845del	NM_001037763.3	NP_001032852.2:p.(Ser615TyrfsTer22)	NC_000007.13:g.7476042_7476043del	VUS	1 lab	96e7b13c42
X:106769894 FRMPD3 C>T	X	106769894	106769894	C	T	FRMPD3	c.76C>T	NM_001388459.1	NP_001375388.1:p.(Arg26Ter)	NC_000023.10:g.106769894C>T	VUS	1 lab	96e94ff779
2:26647252 DRC1 T>G	2	26647252	26647252	T	G	DRC1	c.470T>G	NM_145038.5	NP_659475.2:p.(Leu157Arg)	NC_000002.11:g.26647252T>G	VUS	1 lab	96eaae78e1
9:139311644 PMPCA A>G	9	139311644	139311644	A	G	PMPCA	c.875A>G	NM_015160.3	NP_055975.1:p.(Gln292Arg)	NC_000009.11:g.139311644A>G	(Likely) pathogenic	1 lab	2656f84bf9
15:89390528 ACAN A>G	15	89390528	89390528	A	G	ACAN	c.1484A>G	NM_001369268.1	NP_001356197.1:p.(Glu495Gly)	NC_000015.9:g.89390528A>G	VUS	1 lab	96ee159295
20:57611625 PRELID3B A>T	20	57611625	57611625	A	T	PRELID3B	c.366T>A	NM_016045.3	NP_057129.2:p.(Thr122=)	NC_000020.10:g.57611625A>T	(Likely) benign	1 lab	96eea00558
X:107096845 MID2 T>A	X	107096845	107096845	T	A	MID2	c.721-994T>A	NM_012216.4	NP_036348.2:p.?	NC_000023.10:g.107096845T>A	(Likely) benign	1 lab	96f0176b3c
9:39088517 CNTNAP3 C>A	9	39088517	39088517	C	A	CNTNAP3	c.3123G>T	NM_033655.5	NP_387504.2:p.(Met1041Ile)	NC_000009.11:g.39088517C>A	(Likely) benign	1 lab	96f0654185
1:228557788 OBSCN G>C	1	228557788	228557788	G	C	OBSCN	c.22984G>C	NM_001386125.1	NP_001373054.1:p.(Ala7662Pro)	NC_000001.10:g.228557788G>C	VUS	1 lab	96f0e527d1
14:97321675 VRK1 G>A	14	97321675	97321675	G	A	VRK1	c.691G>A	NM_003384.3	NP_003375.1:p.(Asp231Asn)	NC_000014.8:g.97321675G>A	VUS	1 lab	96f29463a4
20:6751003 BMP2 C>G	20	6751003	6751003	C	G	BMP2	c.230C>G	NM_001200.4	NP_001191.1:p.(Pro77Arg)	NC_000020.10:g.6751003C>G	(Likely) benign	1 lab	96f2c8688a
1:160093808 ATP1A2 T>C	1	160093808	160093808	T	C	ATP1A2	c.457T>C	NM_000702.4	NP_000693.1:p.(Ser153Pro)	NC_000001.10:g.160093808T>C	VUS	1 lab	96f460e24a
22:50297855 ALG12 G>A	22	50297855	50297855	G	A	ALG12	c.1210C>T	NM_024105.4	NP_077010.1:p.(Arg404Trp)	NC_000022.10:g.50297855G>A	VUS	1 lab	96f485d0c8
1:43919066 HYI C>T	1	43919066	43919066	C	T	HYI	c.302G>A	NM_001190880.3	NP_001177809.1:p.(Gly101Asp)	NC_000001.10:g.43919066C>T	VUS	1 lab	96f5c0d63d
12:58025154 B4GALNT1 G>A	12	58025154	58025154	G	A	B4GALNT1	c.219-7C>T	NM_001478.5	NP_001469.1:p.?	NC_000012.11:g.58025154G>A	(Likely) benign	1 lab	96f7435118
5:82817317 VCAN T>A	5	82817317	82817317	T	A	VCAN	c.3192T>A	NM_004385.5	NP_004376.2:p.(Asp1064Glu)	NC_000005.9:g.82817317T>A	VUS	1 lab	96fbbea052
10:89473069 PAPSS2 T>TAAAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAAAA	PAPSS2	c.381+12_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473079_89473091dup	VUS	1 lab	96fca6dca1
13:109793329 MYO16 C>G	13	109793329	109793329	C	G	MYO16	c.4769C>G	NM_001198950.3	NP_001185879.1:p.(Ser1590Cys)	NC_000013.10:g.109793329C>G	(Likely) benign	1 lab	9701fbcf31
6:157100471 ARID1B G>T	6	157100471	157100471	G	T	ARID1B	c.1657G>T	NM_001374828.1	NP_001361757.1:p.(Ala553Ser)	NC_000006.11:g.157100471G>T	(Likely) benign	1 lab	97021d508b
19:11097602 SMARCA4 C>A	19	11097602	11097602	C	A	SMARCA4	c.782C>A	NM_003072.5	NP_003063.2:p.(Pro261His)	NC_000019.9:g.11097602C>A	VUS	1 lab	970293b85a
9:137712074 COL5A1 G>A	9	137712074	137712074	G	A	COL5A1	c.4554+5G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137712074G>A	VUS	1 lab	97034de41f
7:117267670 CFTR C>T	7	117267670	117267670	C	T	CFTR	c.3563C>T	NM_000492.4	NP_000483.3:p.(Ser1188Leu)	NC_000007.13:g.117267670C>T	VUS	1 lab	97054076e9
4:109088713 LEF1 C>G	4	109088713	109088713	C	G	LEF1	c.211G>C	NM_016269.5	NP_057353.1:p.(Glu71Gln)	NC_000004.11:g.109088713C>G	(Likely) benign	1 lab	97061570a4
19:7150491 INSR G>A	19	7150491	7150491	G	A	INSR	c.2267+17C>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7150491G>A	(Likely) benign	1 lab	970993dff0
9:2116484 SMARCA2 A>T	9	2116484	2116484	A	T	SMARCA2	c.3684+435A>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2116484A>T	(Likely) benign	1 lab	9709ad3195
4:39255549 WDR19 A>G	4	39255549	39255549	A	G	WDR19	c.2900A>G	NM_025132.4	NP_079408.3:p.(Tyr967Cys)	NC_000004.11:g.39255549A>G	VUS	1 lab	9709d47d91
X:31496403 DMD G>A	X	31496403	31496403	G	A	DMD	c.8757C>T	NM_004006.3	NP_003997.2:p.(Asn2919=)	NC_000023.10:g.31496403G>A	(Likely) benign	1 lab	265911cdd0
11:46918522 LRP4 G>C	11	46918522	46918522	G	C	LRP4	c.820C>G	NM_002334.4	NP_002325.2:p.(Gln274Glu)	NC_000011.9:g.46918522G>C	VUS	1 lab	970e59645e
13:32911082 BRCA2 C>T	13	32911082	32911082	C	T	BRCA2	c.2590C>T	NM_000059.4	NP_000050.3:p.(Gln864Ter)	NC_000013.10:g.32911082C>T	(Likely) pathogenic	1 lab	970f301da7
10:69407181 CTNNA3 T>C	10	69407181	69407181	T	C	CTNNA3	c.91A>G	NM_013266.4	NP_037398.2:p.(Ile31Val)	NC_000010.10:g.69407181T>C	(Likely) benign	1 lab	970f5caa44
5:140590211 PCDHB12 T>C	5	140590211	140590211	T	C	PCDHB12	c.1732T>C	NM_018932.4	NP_061755.1:p.(Trp578Arg)	NC_000005.9:g.140590211T>C	VUS	1 lab	971015ab99
X:18622430 CDKL5 A>C	X	18622430	18622430	A	C	CDKL5	c.1386A>C	NM_001323289.2	NP_001310218.1:p.(Glu462Asp)	NC_000023.10:g.18622430A>C	VUS	1 lab	97109019a2
7:129945768 CPA4 T>A	7	129945768	129945768	T	A	CPA4	c.591+8T>A	NM_016352.4	NP_057436.2:p.?	NC_000007.13:g.129945768T>A	(Likely) benign	1 lab	971208df87
9:109773575 ZNF462 G>A	9	109773575	109773575	G	A	ZNF462	c.*264G>A	NM_021224.6	NP_067047.4:p.?	NC_000009.11:g.109773575G>A	VUS	1 lab	9714310f85
15:57931704 GCOM1 G>A	15	57931704	57931704	G	A	GCOM1	c.1080G>A	NM_001285900.3	NP_001272829.1:p.(Val360=)	NC_000015.9:g.57931704G>A	(Likely) benign	1 lab	2810e6aa4a
11:1269557 MUC5B C>T	11	1269557	1269557	C	T	MUC5B	c.11447C>T	NM_002458.3	NP_002449.2:p.(Thr3816Met)	NC_000011.9:g.1269557C>T	(Likely) benign	1 lab	26613adcfd
15:65935342 SLC24A1 C>G	15	65935342	65935342	C	G	SLC24A1	c.2054-1423C>G	NM_004727.3	NP_004718.1:p.?	NC_000015.9:g.65935342C>G	(Likely) benign	1 lab	971971e9c8
5:110448753 WDR36 T>TATATA	5	110448753	110448754	T	TATATA	WDR36	c.1885-20_1885-19insATATA	NM_139281.2	NP_644810.1:p.?	NC_000005.9:g.110448753_110448754insATATA	(Likely) benign	1 lab	28125ebba0
20:9404602 PLCB4 A>G	20	9404602	9404602	A	G	PLCB4	c.2524+3A>G	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9404602A>G	VUS	1 lab	971b9f953f
7:156556378 LMBR1 T>A	7	156556378	156556378	T	A	LMBR1	c.535A>T	NM_022458.4	NP_071903.2:p.(Met179Leu)	NC_000007.13:g.156556378T>A	(Likely) benign	1 lab	971cf8d78e
20:31499423 EFCAB8 G>T	20	31499423	31499423	G	T	EFCAB8	c.1695G>T	NM_001143967.2	NP_001137439.1:p.(Leu565=)	NC_000020.10:g.31499423G>T	(Likely) benign	1 lab	971d7b1c96
6:27776002 H2AC13 C>T	6	27776002	27776002	C	T	H2AC13	c.15C>T	NM_003509.3	NP_003500.1:p.(Gly5=)	NC_000006.11:g.27776002C>T	VUS	1 lab	9721f2e1a1
22:31011415 TCN2 C>T	22	31011415	31011415	C	T	TCN2				NC_000022.10:g.31011415C>T	(Likely) benign	1 lab	28148a9d00
9:13224389 MPDZ A>C	9	13224389	13224389	A	C	MPDZ	c.377T>G	NM_001378778.1	NP_001365707.1:p.(Ile126Ser)	NC_000009.11:g.13224389A>C	VUS	1 lab	9725cc1526
1:205779542 SLC41A1 C>T	1	205779542	205779542	C	T	SLC41A1	c.28G>A	NM_173854.6	NP_776253.3:p.(Val10Ile)	NC_000001.10:g.205779542C>T	(Likely) benign	1 lab	2819ba5bcd
20:18477792 RBBP9 G>A	20	18477792	18477792	G	A	RBBP9	c.20C>T	NM_006606.3	NP_006597.2:p.(Ala7Val)	NC_000020.10:g.18477792G>A	(Likely) benign	1 lab	973170f592
19:50826621 KCNC3 G>A	19	50826621	50826621	G	A	KCNC3	c.1589C>T	NM_004977.3	NP_004968.2:p.(Thr530Ile)	NC_000019.9:g.50826621G>A	(Likely) pathogenic	1 lab	9731af9645
2:60688122 BCL11A A>C	2	60688122	60688122	A	C	BCL11A	c.1925T>G	NM_022893.4	NP_075044.2:p.(Phe642Cys)	NC_000002.11:g.60688122A>C	(Likely) benign	1 lab	97331d3817
16:72831447 ZFHX3 G>A	16	72831447	72831447	G	A	ZFHX3	c.5134C>T	NM_006885.4	NP_008816.3:p.(Arg1712Trp)	NC_000016.9:g.72831447G>A	(Likely) benign	1 lab	9734c7bcc8
X:53566779 HUWE1 G>A	X	53566779	53566779	G	A	HUWE1	c.11477-6C>T	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53566779G>A	(Likely) benign	1 lab	973ba7571c
21:35742892 KCNE2 GC>G	21	35742892	35742894	GC	G	KCNE2	c.117del	NM_172201.2	NP_751951.1:p.(Val41LeufsTer15)	NC_000021.8:g.35742894del	VUS	1 lab	26655202d8
9:26907931 PLAA G>A	9	26907931	26907931	G	A	PLAA	c.1723C>T	NM_001031689.3	NP_001026859.1:p.(Leu575Phe)	NC_000009.11:g.26907931G>A	(Likely) benign	1 lab	973e5bdd96
8:144892938 SCRIB G>A	8	144892938	144892938	G	A	SCRIB	c.1322C>T	NM_182706.5	NP_874365.3:p.(Pro441Leu)	NC_000008.10:g.144892938G>A	(Likely) benign	1 lab	973e9f169c
17:33513381 UNC45B C>T	17	33513381	33513381	C	T	UNC45B	c.2593C>T	NM_001267052.2	NP_001253981.1:p.(Arg865Trp)	NC_000017.10:g.33513381C>T	(Likely) benign	1 lab	973eece57a
22:33700239 LARGE1 A>G	22	33700239	33700239	A	G	LARGE1	c.1706T>C	NM_133642.5	NP_598397.1:p.(Met569Thr)	NC_000022.10:g.33700239A>G	VUS	1 lab	973f03823b
12:12043863 ETV6 C>T	12	12043863	12043863	C	T	ETV6	c.1254-12C>T	NM_001987.5	NP_001978.1:p.?	NC_000012.11:g.12043863C>T	(Likely) benign	1 lab	973f294be9
19:50435876 ATF5 T>C	19	50435876	50435876	T	C	ATF5	c.376T>C	NM_001193646.2	NP_001180575.1:p.(Ser126Pro)	NC_000019.9:g.50435876T>C	(Likely) benign	1 lab	97404aa083
16:51174880 SALL1 G>C	16	51174880	51174880	G	C	SALL1	c.1253C>G	NM_002968.3	NP_002959.2:p.(Ser418Cys)	NC_000016.9:g.51174880G>C	VUS	1 lab	266618e499
X:106846043 FRMPD3 C>T	X	106846043	106846043	C	T	FRMPD3	c.4774C>T	NM_001388459.1	NP_001375388.1:p.(Leu1592=)	NC_000023.10:g.106846043C>T	VUS	1 lab	9748257f39
2:216286825 FN1 G>A	2	216286825	216286825	G	A	FN1	c.1535C>T	NM_212482.4	NP_997647.2:p.(Ser512Leu)	NC_000002.11:g.216286825G>A	(Likely) benign	1 lab	9748442e88
1:221912959 DUSP10 G>T	1	221912959	221912959	G	T	DUSP10	c.128C>A	NM_007207.6	NP_009138.1:p.(Pro43His)	NC_000001.10:g.221912959G>T	(Likely) benign	1 lab	974885037e
11:17408795 KCNJ11 CGAG>C	11	17408795	17408799	CGAG	C	KCNJ11	c.841_843del	NM_000525.4	NP_000516.3:p.(Leu281del)	NC_000011.9:g.17408797_17408799del	VUS	1 lab	9749703f9b
1:19216540 ALDH4A1 G>A	1	19216540	19216540	G	A	ALDH4A1	c.122C>T	NM_003748.4	NP_003739.2:p.(Thr41Met)	NC_000001.10:g.19216540G>A	(Likely) benign	1 lab	974c230a0a
12:51102344 DIP2B A>C	12	51102344	51102344	A	C	DIP2B	c.2648A>C	NM_173602.3	NP_775873.2:p.(Gln883Pro)	NC_000012.11:g.51102344A>C	VUS	1 lab	974c61ea29
8:145740752 RECQL4 C>T	8	145740752	145740752	C	T	RECQL4	c.1348G>A	NM_004260.4	NP_004251.4:p.(Val450Met)	NC_000008.10:g.145740752C>T	VUS	1 lab	974ce8fa86
2:152534659 NEB C>A	2	152534659	152534659	C	A	NEB	c.3298G>T	NM_001164508.2	NP_001157980.2:p.(Val1100Phe)	NC_000002.11:g.152534659C>A	(Likely) benign	1 lab	974cf1042c
5:42719293 GHR C>T	5	42719293	42719293	C	T	GHR	c.1684C>T	NM_000163.5	NP_000154.1:p.(Gln562Ter)	NC_000005.9:g.42719293C>T	(Likely) pathogenic	1 lab	974d057fb3
16:30680930 FBRS ACCTAGGGGC>A	16	30680930	30680942	ACCTAGGGGC	A	FBRS	c.2911_2919del	NM_001105079.3	NP_001098549.2:p.(Arg971_Pro973del)	NC_000016.9:g.30680934_30680942del	(Likely) benign	1 lab	974e4ec741
7:105183002 RINT1 T>C	7	105183002	105183002	T	C	RINT1	c.421T>C	NM_021930.6	NP_068749.3:p.(Trp141Arg)	NC_000007.13:g.105183002T>C	VUS	1 lab	974f2c81a8
17:78063980 CCDC40 G>T	17	78063980	78063980	G	T	CCDC40	c.2832+297G>T	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063980G>T	VUS	1 lab	9790205059
22:21342386 LZTR1 C>T	22	21342386	21342386	C	T	LZTR1	c.488C>T	NM_006767.4	NP_006758.2:p.(Thr163Met)	NC_000022.10:g.21342386C>T	VUS	1 lab	974ffb06ac
15:63128231 TLN2 G>T	15	63128231	63128231	G	T	TLN2	c.7333G>T	NM_015059.3	NP_055874.2:p.(Val2445Leu)	NC_000015.9:g.63128231G>T	(Likely) benign	1 lab	975072a624
21:47552269 COL6A2 G>A	21	47552269	47552269	G	A	COL6A2	c.2863G>A	NM_001849.4	NP_001840.3:p.(Asp955Asn)	NC_000021.8:g.47552269G>A	VUS	1 lab	9750b0867e
5:179044602 HNRNPH1 C>A	5	179044602	179044602	C	A	HNRNPH1	c.970G>T	NM_001257293.2	NP_001244222.1:p.(Asp324Tyr)	NC_000005.9:g.179044602C>A	VUS	1 lab	97515ac0c5
1:175355368 TNR G>A	1	175355368	175355368	G	A	TNR	c.1577C>T	NM_003285.3	NP_003276.3:p.(Pro526Leu)	NC_000001.10:g.175355368G>A	VUS	1 lab	975268cf1f
15:89398123 ACAN G>A	15	89398123	89398123	G	A	ACAN	c.2307G>A	NM_001369268.1	NP_001356197.1:p.(Glu769=)	NC_000015.9:g.89398123G>A	(Likely) benign	1 lab	9752e602f1
9:134390889 POMT1 G>A	9	134390889	134390889	G	A	POMT1	c.1252G>A	NM_001077365.2	NP_001070833.1:p.(Ala418Thr)	NC_000009.11:g.134390889G>A	VUS	1 lab	97537ba4f7
16:2034876 GFER G>A	16	2034876	2034876	G	A	GFER	c.387G>A	NM_005262.3	NP_005253.3:p.(Met129Ile)	NC_000016.9:g.2034876G>A	VUS	1 lab	9754454bd1
X:43599924 MAOA A>T	X	43599924	43599924	A	T	MAOA	c.1107-4A>T	NM_000240.4	NP_000231.1:p.?	NC_000023.10:g.43599924A>T	(Likely) benign	1 lab	97546643f6
9:744504 KANK1 C>T	9	744504	744504	C	T	KANK1	c.3911C>T	NM_015158.5	NP_055973.2:p.(Ala1304Val)	NC_000009.11:g.744504C>T	VUS	1 lab	97552fe9da
17:78073500 CCDC40 C>T	17	78073500	78073500	C	T	CCDC40	c.3355C>T	NM_017950.4	NP_060420.2:p.(Pro1119Ser)	NC_000017.10:g.78073500C>T	VUS	1 lab	975659aa6b
3:189607126 TP63 C>T	3	189607126	189607126	C	T	TP63	c.1508-3C>T	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189607126C>T	(Likely) benign	1 lab	97576decfe
1:225333076 DNAH14 T>G	1	225333076	225333076	T	G	DNAH14	c.4789T>G	NM_001367479.1	NP_001354408.1:p.(Tyr1597Asp)	NC_000001.10:g.225333076T>G	VUS	1 lab	26675a1ba9
2:198270017 SF3B1 T>C	2	198270017	198270017	T	C	SF3B1	c.1419A>G	NM_012433.4	NP_036565.2:p.(Gln473=)	NC_000002.11:g.198270017T>C	(Likely) benign	1 lab	975aae3e12
2:228194505 MFF T>TACGAAATGGAATATACTGAAGGCATTAGTCAGC	2	228194505	228194506	T	TACGAAATGGAATATACTGAAGGCATTAGTCAGC	MFF	c.-40-837_-40-836insACGAAATGGAATATACTGAAGGCATTAGTCAGC	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228194505_228194506insACGAAATGGAATATACTGAAGGCATTAGTCAGC	VUS	1 lab	975bd30c98
17:36091779 HNF1B G>A	17	36091779	36091779	G	A	HNF1B	c.852C>T	NM_000458.4	NP_000449.1:p.(His284=)	NC_000017.10:g.36091779G>A	(Likely) benign	1 lab	975c05dbb9
12:122738033 VPS33A G>T	12	122738033	122738033	G	T	VPS33A	c.484-2387C>A	NM_022916.6	NP_075067.2:p.?	NC_000012.11:g.122738033G>T	VUS	1 lab	975d14220a
21:27264107 APP G>A	21	27264107	27264107	G	A	APP	c.2138C>T	NM_000484.4	NP_000475.1:p.(Ala713Val)	NC_000021.8:g.27264107G>A	VUS	1 lab	975db9146f
X:34150259 FAM47A T>G	X	34150259	34150259	T	G	FAM47A	c.137A>C	NM_203408.4	NP_981953.2:p.(Gln46Pro)	NC_000023.10:g.34150259T>G	(Likely) benign	1 lab	97632297e1
1:214625265 PTPN14 A>G	1	214625265	214625265	A	G	PTPN14	c.227T>C	NM_005401.5	NP_005392.2:p.(Val76Ala)	NC_000001.10:g.214625265A>G	VUS	1 lab	97642ee56c
3:49094867 QRICH1 C>T	3	49094867	49094867	C	T	QRICH1	c.766G>A	NM_198880.3	NP_942581.1:p.(Val256Met)	NC_000003.11:g.49094867C>T	VUS	1 lab	97652383ae
10:128193596 C10orf90 A>G	10	128193596	128193596	A	G	C10orf90	c.464T>C	NM_001350921.2	NP_001337850.1:p.(Ile155Thr)	NC_000010.10:g.128193596A>G	VUS	1 lab	9765b947ff
4:77288454 CCDC158 T>A	4	77288454	77288454	T	A	CCDC158	c.1823A>T	NM_001394954.1	NP_001381883.1:p.(Glu608Val)	NC_000004.11:g.77288454T>A	VUS	1 lab	9768593dc6
7:152055766 KMT2C GA>G	7	152055766	152055779	GA	G	KMT2C	c.162-7del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152055779del	(Likely) benign	1 lab	976a5b48f3
7:98782776 KPNA7 GAGA>G	7	98782776	98782781	GAGA	G	KPNA7	c.907_909del	NM_001145715.3	NP_001139187.1:p.(Ser303del)	NC_000007.13:g.98782779_98782781del	VUS	1 lab	976b15a732
11:10800600 CTR9 A>C	11	10800600	10800600	A	C	CTR9	c.3470A>C	NM_014633.5	NP_055448.1:p.(Asn1157Thr)	NC_000011.9:g.10800600A>C	VUS	1 lab	976bdd27b9
2:63631539 WDPCP G>A	2	63631539	63631539	G	A	WDPCP	c.1079C>T	NM_015910.7	NP_056994.3:p.(Ser360Leu)	NC_000002.11:g.63631539G>A	VUS	1 lab	976c2ee321
11:124744142 ROBO3 G>A	11	124744142	124744142	G	A	ROBO3	c.1951+10G>A	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124744142G>A	(Likely) benign	1 lab	976cd14913
19:38380466 WDR87 C>G	19	38380466	38380466	C	G	WDR87	c.3845G>C	NM_001291088.2	NP_001278017.1:p.(Arg1282Thr)	NC_000019.9:g.38380466C>G	VUS	1 lab	976d97cbcb
X:15548145 BMX C>T	X	15548145	15548145	C	T	BMX	c.934C>T	NM_203281.3	NP_975010.1:p.(Gln312Ter)	NC_000023.10:g.15548145C>T	VUS	1 lab	976d9fdc8e
12:71148081 PTPRR T>G	12	71148081	71148081	T	G	PTPRR	c.628A>C	NM_002849.4	NP_002840.2:p.(Lys210Gln)	NC_000012.11:g.71148081T>G	(Likely) benign	1 lab	976e963d45
X:43571114 MAOA T>C	X	43571114	43571114	T	C	MAOA	c.307-5T>C	NM_000240.4	NP_000231.1:p.?	NC_000023.10:g.43571114T>C	(Likely) benign	1 lab	976f440519
3:145795689 PLOD2 G>A	3	145795689	145795689	G	A	PLOD2	c.1523C>T	NM_182943.3	NP_891988.1:p.(Ser508Phe)	NC_000003.11:g.145795689G>A	VUS	1 lab	97704f68c4
6:159654822 FNDC1 C>A	6	159654822	159654822	C	A	FNDC1	c.3278C>A	NM_032532.3	NP_115921.2:p.(Ala1093Asp)	NC_000006.11:g.159654822C>A	(Likely) benign	1 lab	9770f1f69e
5:179250971 SQSTM1 C>T	5	179250971	179250971	C	T	SQSTM1	c.415C>T	NM_003900.5	NP_003891.1:p.(Arg139Cys)	NC_000005.9:g.179250971C>T	VUS	1 lab	97729a2dd4
15:51535061 CYP19A1 C>T	15	51535061	51535061	C	T	CYP19A1	c.49G>A	NM_000103.4	NP_000094.2:p.(Val17Met)	NC_000015.9:g.51535061C>T	VUS	1 lab	9773e49dcd
9:35809239 NPR2 A>G	9	35809239	35809239	A	G	NPR2	c.3073A>G	NM_003995.4	NP_003986.2:p.(Met1025Val)	NC_000009.11:g.35809239A>G	VUS	1 lab	9775185b49
22:41550984 EP300 C>CT	22	41550984	41550995	C	CT	EP300	c.3143-4dup	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41550995dup	(Likely) benign	1 lab	9776267815
20:60884447 LAMA5 G>C	20	60884447	60884447	G	C	LAMA5	c.11033C>G	NM_005560.6	NP_005551.3:p.(Thr3678Ser)	NC_000020.10:g.60884447G>C	(Likely) benign	1 lab	9777e77074
6:39895162 MOCS1 C>G	6	39895162	39895162	C	G	MOCS1	c.156G>C	NM_001358530.2	NP_001345459.1:p.(Glu52Asp)	NC_000006.11:g.39895162C>G	VUS	1 lab	97789b2c4d
7:98513818 TRRAP A>G	7	98513818	98513818	A	G	TRRAP	c.2365+307A>G	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98513818A>G	(Likely) benign	1 lab	9779d4ccf0
2:98373842 TMEM131 A>T	2	98373842	98373842	A	T	TMEM131	c.5372T>A	NM_015348.2	NP_056163.1:p.(Val1791Asp)	NC_000002.11:g.98373842A>T	(Likely) benign	1 lab	977bc4acbc
19:7168086 INSR T>C	19	7168086	7168086	T	C	INSR	c.1503A>G	NM_000208.4	NP_000199.2:p.(Lys501=)	NC_000019.9:g.7168086T>C	(Likely) benign	1 lab	977d578d29
X:74290245 ABCB7 A>G	X	74290245	74290245	A	G	ABCB7	c.1320T>C	NM_001271696.3	NP_001258625.1:p.(Asp440=)	NC_000023.10:g.74290245A>G	(Likely) benign	1 lab	977d6af1c5
3:168833191 MECOM G>C	3	168833191	168833191	G	C	MECOM	c.2469C>G	NM_004991.4	NP_004982.2:p.(Phe823Leu)	NC_000003.11:g.168833191G>C	VUS	1 lab	977da7fba0
9:139404285 NOTCH1 C>T	9	139404285	139404285	C	T	NOTCH1	c.2869G>A	NM_017617.5	NP_060087.3:p.(Gly957Arg)	NC_000009.11:g.139404285C>T	VUS	1 lab	977e00051d
10:27366459 ANKRD26 T>TG	10	27366459	27366460	T	TG	ANKRD26	c.884dup	NM_014915.3	NP_055730.2:p.(Tyr296IlefsTer9)	NC_000010.10:g.27366460dup	VUS	1 lab	977e82089e
16:2166993 PKD1 G>A	16	2166993	2166993	G	A	PKD1	c.1447C>T	NM_001009944.3	NP_001009944.3:p.(Gln483Ter)	NC_000016.9:g.2166993G>A	(Likely) pathogenic	1 lab	977f050def
1:203820200 ZC3H11A G>A	1	203820200	203820200	G	A	ZC3H11A	c.2122G>A	NM_001376342.1	NP_001363271.1:p.(Val708Ile)	NC_000001.10:g.203820200G>A	VUS	1 lab	977fccf8d5
4:186329089 UFSP2 C>T	4	186329089	186329089	C	T	UFSP2	c.1121+1G>A	NM_018359.5	NP_060829.2:p.?	NC_000004.11:g.186329089C>T	VUS	1 lab	97806a0ad4
10:13702491 FRMD4A G>A	10	13702491	13702491	G	A	FRMD4A	c.1723C>T	NM_018027.5	NP_060497.3:p.(Arg575Trp)	NC_000010.10:g.13702491G>A	VUS	1 lab	9783882b2f
1:120462923 NOTCH2 G>A	1	120462923	120462923	G	A	NOTCH2	c.5408C>T	NM_024408.4	NP_077719.2:p.(Pro1803Leu)	NC_000001.10:g.120462923G>A	VUS	1 lab	9785569d2d
2:241659181 KIF1A C>T	2	241659181	241659181	C	T	KIF1A	c.5021+10G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241659181C>T	(Likely) benign	1 lab	9785da2033
9:101570009 GALNT12 G>T	9	101570009	101570009	G	T	GALNT12	c.29G>T	NM_024642.5	NP_078918.3:p.(Cys10Phe)	NC_000009.11:g.101570009G>T	(Likely) benign	1 lab	97871c61ec
15:52689659 MYO5A T>C	15	52689659	52689659	T	C	MYO5A	c.1058A>G	NM_001382347.1	NP_001369276.1:p.(Lys353Arg)	NC_000015.9:g.52689659T>C	VUS	1 lab	9789710e5b
3:9714418 MTMR14 A>G	3	9714418	9714418	A	G	MTMR14	c.727A>G	NM_001077525.3	NP_001070993.1:p.(Thr243Ala)	NC_000003.11:g.9714418A>G	(Likely) benign	1 lab	978a206565
16:30750701 SRCAP AC>A	16	30750701	30750705	AC	A	SRCAP	c.9344del	NM_006662.3	NP_006653.2:p.(Pro3115GlnfsTer13)	NC_000016.9:g.30750705del	(Likely) pathogenic	1 lab	978afd906e
3:189612009 TP63 G>A	3	189612009	189612009	G	A	TP63	c.1761G>A	NM_003722.5	NP_003713.3:p.(Leu587=)	NC_000003.11:g.189612009G>A	(Likely) benign	1 lab	978c206c02
7:128530954 KCP G>T	7	128530954	128530954	G	T	KCP	c.2164+5C>A	NM_001366122.1	NP_001353051.1:p.?	NC_000007.13:g.128530954G>T	(Likely) benign	1 lab	978c8a6dc2
19:18896348 COMP C>T	19	18896348	18896348	C	T	COMP	c.1677G>A	NM_000095.3	NP_000086.2:p.(Glu559=)	NC_000019.9:g.18896348C>T	(Likely) benign	1 lab	978cf617d6
5:67576786 PIK3R1 A>G	5	67576786	67576786	A	G	PIK3R1	c.868A>G	NM_181523.3	NP_852664.1:p.(Ile290Val)	NC_000005.9:g.67576786A>G	(Likely) benign	1 lab	978d44c8ab
3:33109737 GLB1 G>A	3	33109737	33109737	G	A	GLB1	c.442C>T	NM_000404.4	NP_000395.3:p.(Arg148Cys)	NC_000003.11:g.33109737G>A	(Likely) pathogenic	1 lab	978e2df4c7
5:154299518 GEMIN5 A>G	5	154299518	154299518	A	G	GEMIN5	c.1599+9T>C	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154299518A>G	(Likely) benign	1 lab	978f282f99
3:47161966 SETD2 T>G	3	47161966	47161966	T	G	SETD2	c.4160A>C	NM_014159.7	NP_054878.5:p.(Lys1387Thr)	NC_000003.11:g.47161966T>G	VUS	1 lab	978f71b81d
15:43476643 TMEM62 C>T	15	43476643	43476643	C	T	TMEM62	c.1791C>T	NM_024956.4	NP_079232.3:p.(Tyr597=)	NC_000015.9:g.43476643C>T	(Likely) benign	1 lab	978f7cc1c5
20:870867 ANGPT4 T>C	20	870867	870867	T	C	ANGPT4	c.454A>G	NM_015985.4	NP_057069.1:p.(Met152Val)	NC_000020.10:g.870867T>C	(Likely) benign	1 lab	9790074d8a
20:20007543 NAA20 ACTAGAGGAGATTTCAGAAAGGTGAGATTCAGTTTTTCAAATACACTTAGTGATTTGTGGACCCCTAACCATT>A	20	20007543	20007615	ACTAGAGGAGATTTCAGAAAGGTGAGATTCAGTTTTTCAAATACACTTAGTGATTTGTGGACCCCTAACCATT	A	NAA20	c.286_305+52del	NM_016100.5	NP_057184.1:p.?	NC_000020.10:g.20007544_20007615del	(Likely) pathogenic	1 lab	97915d95e5
2:63712119 WDPCP G>A	2	63712119	63712119	G	A	WDPCP	c.256C>T	NM_015910.7	NP_056994.3:p.(Arg86Ter)	NC_000002.11:g.63712119G>A	(Likely) pathogenic	1 lab	9791935df0
6:118845017 CEP85L T>C	6	118845017	118845017	T	C	CEP85L	c.1087A>G	NM_001042475.3	NP_001035940.1:p.(Met363Val)	NC_000006.11:g.118845017T>C	(Likely) benign	1 lab	9791ec051c
11:73677180 DNAJB13 T>C	11	73677180	73677180	T	C	DNAJB13	c.493-3T>C	NM_153614.4	NP_705842.2:p.?	NC_000011.9:g.73677180T>C	(Likely) benign	1 lab	97953b6cfc
7:2566784 LFNG C>T	7	2566784	2566784	C	T	LFNG	c.1078C>T	NM_001040167.2	NP_001035257.1:p.(Arg360Cys)	NC_000007.13:g.2566784C>T	VUS	1 lab	9797050139
9:35057545 VCP A>C	9	35057545	35057545	A	C	VCP	c.2161-18T>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35057545A>C	(Likely) benign	1 lab	9797dfabfd
20:35885292 GHRH T>A	20	35885292	35885292	T	A	GHRH	c.1A>T	NM_021081.6	NP_066567.1:p.(Met1?)	NC_000020.10:g.35885292T>A	VUS	1 lab	979a15db43
7:129944337 CPA4 ACATTGCCG>A	7	129944337	129944347	ACATTGCCG	A	CPA4	c.407_414del	NM_016352.4	NP_057436.2:p.(Ile136ArgfsTer4)	NC_000007.13:g.129944340_129944347del	VUS	1 lab	979c37b004
5:151239497 GLRA1 C>T	5	151239497	151239497	C	T	GLRA1	c.325G>A	NM_000171.4	NP_000162.2:p.(Asp109Asn)	NC_000005.9:g.151239497C>T	VUS	1 lab	979c8580e7
5:149433689 CSF1R G>A	5	149433689	149433689	G	A	CSF1R	c.2862C>T	NM_001288705.3	NP_001275634.1:p.(Cys954=)	NC_000005.9:g.149433689G>A	(Likely) benign	1 lab	979e1e041f
10:89623860 PTEN C>CGG	10	89623860	89623861	C	CGG	PTEN	c.-367_-366insGG	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623860_89623861insGG	(Likely) benign	1 lab	979e765d50
20:633759 SRXN1 G>C	20	633759	633759	G	C	SRXN1	c.71C>G	NM_080725.3	NP_542763.1:p.(Pro24Arg)	NC_000020.10:g.633759G>C	(Likely) benign	1 lab	97a24ca327
1:240370535 FMN2 C>T	1	240370535	240370535	C	T	FMN2	c.2423C>T	NM_020066.5	NP_064450.3:p.(Ser808Leu)	NC_000001.10:g.240370535C>T	(Likely) benign	1 lab	97a39cc8f7
10:21806223 SKIDA1 G>A	10	21806223	21806223	G	A	SKIDA1	c.529C>T	NM_207371.4	NP_997254.3:p.(Pro177Ser)	NC_000010.10:g.21806223G>A	(Likely) benign	1 lab	97a3e50e6a
1:40776766 COL9A2 G>A	1	40776766	40776766	G	A	COL9A2	c.629C>T	NM_001852.4	NP_001843.1:p.(Pro210Leu)	NC_000001.10:g.40776766G>A	VUS	1 lab	97a4296b75
8:139701173 COL22A1 T>G	8	139701173	139701173	T	G	COL22A1	c.2849A>C	NM_152888.3	NP_690848.1:p.(Glu950Ala)	NC_000008.10:g.139701173T>G	VUS	1 lab	97a448178e
17:7489336 MPDU1 T>C	17	7489336	7489336	T	C	MPDU1	c.242T>C	NM_004870.4	NP_004861.2:p.(Leu81Pro)	NC_000017.10:g.7489336T>C	VUS	1 lab	97a46590bb
3:49137079 QARS1 G>A	3	49137079	49137079	G	A	QARS1	c.1390C>T	NM_005051.3	NP_005042.1:p.(Arg464Cys)	NC_000003.11:g.49137079G>A	VUS	1 lab	97a48450c5
8:11614543 GATA4 C>T	8	11614543	11614543	C	T	GATA4	c.1100C>T	NM_001308093.3	NP_001295022.1:p.(Thr367Met)	NC_000008.10:g.11614543C>T	(Likely) benign	1 lab	97a4b4a7c4
9:135946038 CEL A>C	9	135946038	135946038	A	C	CEL	c.1477A>C	NM_001807.6	NP_001798.3:p.(Lys493Gln)	NC_000009.11:g.135946038A>C	(Likely) benign	1 lab	97a4e2ae34
9:116958282 COL27A1 C>T	9	116958282	116958282	C	T	COL27A1	c.2114C>T	NM_032888.4	NP_116277.2:p.(Pro705Leu)	NC_000009.11:g.116958282C>T	VUS	1 lab	97a539ff58
5:147477503 SPINK5 G>GTGGT	5	147477503	147477507	G	GTGGT	SPINK5	c.957_960dup	NM_006846.4	NP_006837.2:p.(Pro321TrpfsTer23)	NC_000005.9:g.147477504_147477507dup	(Likely) pathogenic	1 lab	97a6125083
16:87678107 JPH3 G>C	16	87678107	87678107	G	C	JPH3	c.626G>C	NM_020655.4	NP_065706.2:p.(Ser209Thr)	NC_000016.9:g.87678107G>C	(Likely) benign	1 lab	97a61e8c9a
18:2718308 SMCHD1 T>C	18	2718308	2718308	T	C	SMCHD1	c.2339-5T>C	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2718308T>C	VUS	1 lab	97a75c45f1
19:36336690 NPHS1 A>C	19	36336690	36336690	A	C	NPHS1	c.1638T>G	NM_004646.3	NP_004637.1:p.(Thr546=)	NC_000019.9:g.36336690A>C	(Likely) benign	1 lab	28275c6da8
19:50099793 PRR12 G>T	19	50099793	50099793	G	T	PRR12	c.2201G>T	NM_020719.3	NP_065770.1:p.(Arg734Leu)	NC_000019.9:g.50099793G>T	VUS	1 lab	97aa279f65
14:50671078 SOS2 T>C	14	50671078	50671078	T	C	SOS2	c.137A>G	NM_006939.4	NP_008870.2:p.(Tyr46Cys)	NC_000014.8:g.50671078T>C	(Likely) benign	1 lab	97aabbb37c
4:996669 IDUA C>T	4	996669	996669	C	T	IDUA	c.1339C>T	NM_000203.5	NP_000194.2:p.(Arg447Cys)	NC_000004.11:g.996669C>T	VUS	1 lab	97ab1a7d51
16:67692909 ACD A>G	16	67692909	67692909	A	G	ACD	c.567T>C	NM_001082486.2	NP_001075955.2:p.(Ala189=)	NC_000016.9:g.67692909A>G	(Likely) benign	1 lab	97ab7ebc36
3:186953932 MASP1 C>A	3	186953932	186953932	C	A	MASP1	c.1727G>T	NM_139125.4	NP_624302.1:p.(Arg576Met)	NC_000003.11:g.186953932C>A	(Likely) benign	1 lab	97acd13028
4:119689417 SEC24D T>C	4	119689417	119689417	T	C	SEC24D	c.1091A>G	NM_014822.4	NP_055637.2:p.(Asn364Ser)	NC_000004.11:g.119689417T>C	VUS	1 lab	97b35ab878
7:31018855 GHRHR G>A	7	31018855	31018855	G	A	GHRHR	c.1268G>A	NM_000823.4	NP_000814.2:p.(Cys423Tyr)	NC_000007.13:g.31018855G>A	VUS	1 lab	97b37ffc40
16:81654485 CMIP C>A	16	81654485	81654485	C	A	CMIP	c.431C>A	NM_198390.3	NP_938204.2:p.(Ala144Asp)	NC_000016.9:g.81654485C>A	VUS	1 lab	97b5a580e1
8:67089558 CRH T>TGCG	8	67089558	67089569	T	TGCG	CRH	c.152_154dup	NM_000756.4	NP_000747.1:p.(Pro51dup)	NC_000008.10:g.67089567_67089569dup	(Likely) benign	1 lab	97b61fb15e
2:73676426 ALMS1 C>CT	2	73676426	73676429	C	CT	ALMS1	c.2775dup	NM_001378454.1	NP_001365383.1:p.(Leu926SerfsTer4)	NC_000002.11:g.73676429dup	VUS	1 lab	97b627e5d7
19:42865145 MEGF8 G>C	19	42865145	42865145	G	C	MEGF8	c.5707G>C	NM_001271938.2	NP_001258867.1:p.(Asp1903His)	NC_000019.9:g.42865145G>C	(Likely) benign	1 lab	97b66a1ee5
10:122637900 WDR11 C>G	10	122637900	122637900	C	G	WDR11	c.1592C>G	NM_018117.12	NP_060587.8:p.(Ser531Cys)	NC_000010.10:g.122637900C>G	VUS	1 lab	97b69dbc81
9:140563797 EHMT1 A>T	9	140563797	140563797	A	T	EHMT1	c.22-41622A>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140563797A>T	(Likely) benign	1 lab	97b6cef5a1
17:7405834 POLR2A C>G	17	7405834	7405834	C	G	POLR2A	c.2573-3C>G	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7405834C>G	(Likely) benign	1 lab	97b88902fa
7:75614906 POR A>C	7	75614906	75614906	A	C	POR	c.1408A>C	NM_000941.3	NP_000932.3:p.(Asn470His)	NC_000007.13:g.75614906A>C	VUS	1 lab	97b8f2a399
4:122749348 BBS7 A>G	4	122749348	122749348	A	G	BBS7	c.1967T>C	NM_176824.3	NP_789794.1:p.(Leu656Pro)	NC_000004.11:g.122749348A>G	(Likely) pathogenic	1 lab	97b9f866f9
15:25981233 ATP10A T>G	15	25981233	25981233	T	G	ATP10A	c.710A>C	NM_024490.4	NP_077816.1:p.(Asn237Thr)	NC_000015.9:g.25981233T>G	(Likely) benign	1 lab	97ba11ece0
12:112280578 MAPKAPK5 G>A	12	112280578	112280578	G	A	MAPKAPK5	c.36+5G>A	NM_003668.4	NP_003659.2:p.?	NC_000012.11:g.112280578G>A	(Likely) benign	1 lab	97bbef6c4a
19:12775720 MAN2B1 C>T	19	12775720	12775720	C	T	MAN2B1	c.516G>A	NM_000528.4	NP_000519.2:p.(Met172Ile)	NC_000019.9:g.12775720C>T	VUS	1 lab	97bd0b689e
2:210836992 UNC80 G>A	2	210836992	210836992	G	A	UNC80	c.8324G>A	NM_001371986.1	NP_001358915.1:p.(Gly2775Glu)	NC_000002.11:g.210836992G>A	VUS	1 lab	97be48107b
11:621826 CDHR5 T>C	11	621826	621826	T	C	CDHR5	c.391A>G	NM_021924.5	NP_068743.3:p.(Ile131Val)	NC_000011.9:g.621826T>C	VUS	1 lab	97be520955
19:1106628 GPX4 C>T	19	1106628	1106628	C	T	GPX4	c.*57C>T	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1106628C>T	(Likely) benign	1 lab	97beb110dc
3:53842678 CACNA1D C>G	3	53842678	53842678	C	G	CACNA1D	c.5752C>G	NM_001128840.3	NP_001122312.1:p.(His1918Asp)	NC_000003.11:g.53842678C>G	VUS	1 lab	97bf244517
19:4930897 UHRF1 T>C	19	4930897	4930897	T	C	UHRF1	c.569+9T>C	NM_001048201.3	NP_001041666.1:p.?	NC_000019.9:g.4930897T>C	(Likely) benign	1 lab	97bfdfe646
19:48639325 LIG1 G>C	19	48639325	48639325	G	C	LIG1	c.1389C>G	NM_000234.1	NP_000225.1:p.(Leu463=)	NC_000019.9:g.48639325G>C	(Likely) benign	1 lab	33459d518a
12:57110604 NACA G>GGCT	12	57110604	57110607	G	GGCT	NACA	c.4707_4709dup	NM_001365896.1	NP_001352825.1:p.(Ala1570dup)	NC_000012.11:g.57110605_57110607dup	VUS	1 lab	97c14dec99
12:53702252 AAAS TCAGA>T	12	53702252	53702260	TCAGA	T	AAAS	c.1144_1147del	NM_015665.6	NP_056480.1:p.(Ser382ArgfsTer33)	NC_000012.11:g.53702257_53702260del	(Likely) pathogenic	1 lab	97c2223db0
17:1564976 PRPF8 G>A	17	1564976	1564976	G	A	PRPF8	c.4131C>T	NM_006445.4	NP_006436.3:p.(Ser1377=)	NC_000017.10:g.1564976G>A	(Likely) benign	1 lab	97c2800a0f
8:144874812 SCRIB G>C	8	144874812	144874812	G	C	SCRIB	c.4178-7C>G	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144874812G>C	VUS	1 lab	9825fda73d
2:166897986 SCN1A T>A	2	166897986	166897986	T	A	SCN1A	c.2177-7A>T	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897986T>A	(Likely) benign	1 lab	97c2e0d836
2:201407372 SGO2 G>A	2	201407372	201407372	G	A	SGO2	c.458G>A	NM_152524.6	NP_689737.4:p.(Arg153His)	NC_000002.11:g.201407372G>A	(Likely) benign	1 lab	97c2f7feab
11:68696686 IGHMBP2 G>T	11	68696686	68696686	G	T	IGHMBP2	c.1096G>T	NM_002180.3	NP_002171.2:p.(Glu366Ter)	NC_000011.9:g.68696686G>T	(Likely) pathogenic	1 lab	97c3ccd88b
14:102496053 DYNC1H1 C>T	14	102496053	102496053	C	T	DYNC1H1	c.9642+4C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102496053C>T	(Likely) benign	1 lab	97c4333d0c
5:94826668 SKIC3 G>C	5	94826668	94826668	G	C	SKIC3	c.3875C>G	NM_014639.4	NP_055454.1:p.(Thr1292Ser)	NC_000005.9:g.94826668G>C	(Likely) benign	1 lab	97c5de4a38
18:43445730 EPG5 C>CA	18	43445730	43445747	C	CA	EPG5	c.6622-7dup	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43445747dup	(Likely) benign	1 lab	97c6fb145b
19:40433715 FCGBP T>C	19	40433715	40433715	T	C	FCGBP	c.554A>G	NM_003890.3	NP_003881.2:p.(Tyr185Cys)	NC_000019.9:g.40433715T>C	(Likely) benign	1 lab	97c8339f18
1:223177402 DISP1 T>G	1	223177402	223177402	T	G	DISP1	c.2663T>G	NM_001377229.1	NP_001364158.1:p.(Leu888Arg)	NC_000001.10:g.223177402T>G	VUS	1 lab	97c84cbc15
8:119936717 TNFRSF11B T>A	8	119936717	119936717	T	A	TNFRSF11B	c.1102A>T	NM_002546.4	NP_002537.3:p.(Thr368Ser)	NC_000008.10:g.119936717T>A	(Likely) benign	1 lab	97c96eb996
16:29998325 TAOK2 T>C	16	29998325	29998325	T	C	TAOK2	c.2732T>C	NM_016151.4	NP_057235.2:p.(Ile911Thr)	NC_000016.9:g.29998325T>C	VUS	1 lab	97c9b43fae
3:71617392 FOXP1 G>GTATT	3	71617392	71617396	G	GTATT	FOXP1	c.-298+13307_-298+13308insAATA	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71617395_71617396insTTAT	(Likely) benign	1 lab	97ca9faad9
X:149765031 MTM1 A>G	X	149765031	149765031	A	G	MTM1	c.133A>G	NM_000252.3	NP_000243.1:p.(Thr45Ala)	NC_000023.10:g.149765031A>G	VUS	1 lab	97caa27016
X:153578568 FLNA A>C	X	153578568	153578568	A	C	FLNA	c.7164T>G	NM_001110556.2	NP_001104026.1:p.(Tyr2388Ter)	NC_000023.10:g.153578568A>C	(Likely) pathogenic	1 lab	97cb442a08
15:33952459 RYR3 G>A	15	33952459	33952459	G	A	RYR3	c.4457G>A	NM_001036.6	NP_001027.3:p.(Cys1486Tyr)	NC_000015.9:g.33952459G>A	VUS	1 lab	97cc276881
2:50201110 NRXN1 A>G	2	50201110	50201110	A	G	NRXN1	c.4249-30181T>C	NM_001135659.3	NP_001129131.1:p.?	NC_000002.11:g.50201110A>G	(Likely) benign	1 lab	2671eb5a66
13:77575072 CLN5 C>T	13	77575072	77575072	C	T	CLN5	c.1045C>T	NM_006493.4	NP_006484.2:p.(Pro349Ser)	NC_000013.10:g.77575072C>T	VUS	1 lab	97ce1802ad
1:155300301 RUSC1 G>A	1	155300301	155300301	G	A	RUSC1	c.2648G>A	NM_001105203.2	NP_001098673.1:p.(Arg883His)	NC_000001.10:g.155300301G>A	(Likely) benign	1 lab	97cf6377ae
X:18913303 PHKA2 C>T	X	18913303	18913303	C	T	PHKA2	c.3289G>A	NM_000292.3	NP_000283.1:p.(Gly1097Ser)	NC_000023.10:g.18913303C>T	VUS	1 lab	97d0afea3b
1:182874667 SHCBP1L T>G	1	182874667	182874667	T	G	SHCBP1L	c.1300A>C	NM_030933.4	NP_112195.2:p.(Asn434His)	NC_000001.10:g.182874667T>G	(Likely) benign	1 lab	97d1e9afee
14:77951088 ISM2 G>A	14	77951088	77951088	G	A	ISM2	c.316C>T	NM_199296.3	NP_954993.1:p.(Arg106Trp)	NC_000014.8:g.77951088G>A	VUS	1 lab	97d22f3e18
11:71192453 NADSYN1 A>G	11	71192453	71192453	A	G	NADSYN1	c.1047+3A>G	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71192453A>G	(Likely) benign	1 lab	97d2a0235c
18:13008577 CEP192 C>G	18	13008577	13008577	C	G	CEP192	c.413C>G	NM_032142.4	NP_115518.3:p.(Ser138Cys)	NC_000018.9:g.13008577C>G	(Likely) benign	1 lab	97d356708a
19:1481916 PCSK4 G>A	19	1481916	1481916	G	A	PCSK4	c.2110C>T	NM_017573.5	NP_060043.2:p.(Arg704Cys)	NC_000019.9:g.1481916G>A	(Likely) benign	1 lab	97d3923b84
2:33246257 LTBP1 C>G	2	33246257	33246257	C	G	LTBP1	c.847C>G	NM_206943.4	NP_996826.3:p.(Gln283Glu)	NC_000002.11:g.33246257C>G	VUS	1 lab	97d44aa9ba
19:6686289 C3 C>T	19	6686289	6686289	C	T	C3	c.3656G>A	NM_000064.4	NP_000055.2:p.(Arg1219His)	NC_000019.9:g.6686289C>T	VUS	1 lab	97d4648250
1:60294471 HOOK1 G>A	1	60294471	60294471	G	A	HOOK1	c.169G>A	NM_015888.6	NP_056972.1:p.(Glu57Lys)	NC_000001.10:g.60294471G>A	VUS	1 lab	97d6533762
9:37126777 ZCCHC7 C>T	9	37126777	37126777	C	T	ZCCHC7	c.448C>T	NM_032226.3	NP_115602.2:p.(Arg150Ter)	NC_000009.11:g.37126777C>T	VUS	1 lab	97d678e85d
9:140907660 CACNA1B T>G	9	140907660	140907660	T	G	CACNA1B	c.2240T>G	NM_000718.4	NP_000709.1:p.(Met747Arg)	NC_000009.11:g.140907660T>G	VUS	1 lab	97d68e052f
22:40015365 CACNA1I G>T	22	40015365	40015365	G	T	CACNA1I	c.533G>T	NM_021096.4	NP_066919.2:p.(Arg178Leu)	NC_000022.10:g.40015365G>T	VUS	1 lab	97d706f6de
1:155031244 ADAM15 G>A	1	155031244	155031244	G	A	ADAM15	c.1976G>A	NM_207197.3	NP_997080.1:p.(Ser659Asn)	NC_000001.10:g.155031244G>A	VUS	1 lab	97d81310cd
4:146696931 ZNF827 T>A	4	146696931	146696931	T	A	ZNF827	c.2693+10A>T	NM_001306215.2	NP_001293144.1:p.?	NC_000004.11:g.146696931T>A	(Likely) benign	1 lab	97d8e02084
16:1482767 PERCC1 G>A	16	1482767	1482767	G	A	PERCC1	c.173G>A	NM_001365310.2	NP_001352239.1:p.(Arg58Gln)	NC_000016.9:g.1482767G>A	(Likely) benign	1 lab	97d9f39875
12:49434649 KMT2D G>A	12	49434649	49434649	G	A	KMT2D	c.6904C>T	NM_003482.4	NP_003473.3:p.(Pro2302Ser)	NC_000012.11:g.49434649G>A	VUS	1 lab	97dbc583bd
6:152534862 SYNE1 G>C	6	152534862	152534862	G	C	SYNE1	c.22379C>G	NM_182961.4	NP_892006.3:p.(Thr7460Ser)	NC_000006.11:g.152534862G>C	VUS	1 lab	97dbcea6ee
20:52789647 CYP24A1 G>T	20	52789647	52789647	G	T	CYP24A1	c.259-9C>A	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52789647G>T	VUS	1 lab	97dca47039
17:1587850 PRPF8 G>A	17	1587850	1587850	G	A	PRPF8	c.16C>T	NM_006445.4	NP_006436.3:p.(Pro6Ser)	NC_000017.10:g.1587850G>A	VUS	1 lab	97dd2095fc
13:110814726 COL4A1 C>T	13	110814726	110814726	C	T	COL4A1	c.4313G>A	NM_001845.6	NP_001836.3:p.(Gly1438Asp)	NC_000013.10:g.110814726C>T	VUS	1 lab	97dd3f9073
17:61995189 GH1 G>A	17	61995189	61995189	G	A	GH1	c.387C>T	NM_000515.5	NP_000506.2:p.(Tyr129=)	NC_000017.10:g.61995189G>A	(Likely) benign	1 lab	97dd4ce41c
X:117761503 DOCK11 C>T	X	117761503	117761503	C	T	DOCK11	c.3625C>T	NM_144658.4	NP_653259.3:p.(Pro1209Ser)	NC_000023.10:g.117761503C>T	VUS	1 lab	97df32b252
11:67803812 NDUFS8 C>G	11	67803812	67803812	C	G	NDUFS8	c.465C>G	NM_002496.4	NP_002487.1:p.(Phe155Leu)	NC_000011.9:g.67803812C>G	(Likely) benign	1 lab	97e0e686ea
2:135476439 TMEM163 C>T	2	135476439	135476439	C	T	TMEM163	c.67G>A	NM_030923.5	NP_112185.1:p.(Gly23Ser)	NC_000002.11:g.135476439C>T	(Likely) benign	1 lab	97e11b1665
7:69103334 AUTS2 C>T	7	69103334	69103334	C	T	AUTS2	c.309+38386C>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69103334C>T	(Likely) benign	1 lab	97e1eb5552
10:135012362 KNDC1 G>A	10	135012362	135012362	G	A	KNDC1	c.2350G>A	NM_152643.8	NP_689856.6:p.(Ala784Thr)	NC_000010.10:g.135012362G>A	VUS	1 lab	97e2237d03
12:109042612 CORO1C T>C	12	109042612	109042612	T	C	CORO1C	c.1074A>G	NM_014325.4	NP_055140.1:p.(Gln358=)	NC_000012.11:g.109042612T>C	(Likely) benign	1 lab	97e22c7978
2:20205631 MATN3 C>T	2	20205631	20205631	C	T	MATN3	c.664G>A	NM_002381.5	NP_002372.1:p.(Val222Met)	NC_000002.11:g.20205631C>T	VUS	1 lab	97e2bead77
X:18598093 CDKL5 G>A	X	18598093	18598093	G	A	CDKL5	c.403+5G>A	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18598093G>A	VUS	1 lab	97e4797511
10:27311557 ANKRD26 A>T	10	27311557	27311557	A	T	ANKRD26	c.4145T>A	NM_014915.3	NP_055730.2:p.(Phe1382Tyr)	NC_000010.10:g.27311557A>T	(Likely) benign	1 lab	97e53ef0b7
15:64025297 HERC1 G>A	15	64025297	64025297	G	A	HERC1	c.2694C>T	NM_003922.4	NP_003913.3:p.(His898=)	NC_000015.9:g.64025297G>A	(Likely) benign	1 lab	97e5c51403
5:161309779 GABRA1 A>T	5	161309779	161309779	A	T	GABRA1	c.703+72A>T	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161309779A>T	(Likely) benign	1 lab	33467a363b
X:142122003 SPANXN4 G>T	X	142122003	142122003	G	T	SPANXN4	c.271G>T	NM_001009613.4	NP_001009613.1:p.(Gly91Ter)	NC_000023.10:g.142122003G>T	VUS	1 lab	97e8614828
20:34135196 ERGIC3 C>T	20	34135196	34135196	C	T	ERGIC3	c.401C>T	NM_015966.3	NP_057050.1:p.(Pro134Leu)	NC_000020.10:g.34135196C>T	VUS	1 lab	97eae65b36
3:155551291 SLC33A1 T>C	3	155551291	155551291	T	C	SLC33A1	c.1232A>G	NM_004733.4	NP_004724.1:p.(Tyr411Cys)	NC_000003.11:g.155551291T>C	VUS	1 lab	97eb21f889
12:94769671 CEP83 C>G	12	94769671	94769671	C	G	CEP83	c.924G>C	NM_016122.3	NP_057206.2:p.(Leu308Phe)	NC_000012.11:g.94769671C>G	VUS	1 lab	97eb81e5f0
11:120996428 TECTA G>A	11	120996428	120996428	G	A	TECTA	c.1621G>A	NM_005422.4	NP_005413.2:p.(Val541Met)	NC_000011.9:g.120996428G>A	VUS	1 lab	97ebd97a3e
3:58092578 FLNB C>T	3	58092578	58092578	C	T	FLNB	c.1919C>T	NM_001457.4	NP_001448.2:p.(Thr640Met)	NC_000003.11:g.58092578C>T	(Likely) benign	1 lab	97ec34493c
19:42503372 GRIK5 C>T	19	42503372	42503372	C	T	GRIK5	c.2594G>A	NM_002088.5	NP_002079.3:p.(Arg865Gln)	NC_000019.9:g.42503372C>T	(Likely) benign	1 lab	97edb51956
11:640081 DRD4 TGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGC>T	11	640081	640120	TGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGACCCCTGC	T	DRD4	c.834_871del	NM_000797.4	NP_000788.2:p.(Cys278TrpfsTer159)	NC_000011.9:g.640083_640120del	VUS	1 lab	97ee7ea5c8
11:70333814 SHANK2 CCT>C	11	70333814	70333818	CCT	C	SHANK2	c.2582_2583del	NM_012309.5	NP_036441.2:p.(Glu861GlyfsTer24)	NC_000011.9:g.70333817_70333818del	VUS	1 lab	97ee944587
8:77617189 ZFHX4 A>G	8	77617189	77617189	A	G	ZFHX4	c.866A>G	NM_024721.5	NP_078997.4:p.(Tyr289Cys)	NC_000008.10:g.77617189A>G	VUS	1 lab	97eead3ab0
14:105412638 AHNAK2 G>C	14	105412638	105412638	G	C	AHNAK2	c.9150C>G	NM_138420.4	NP_612429.2:p.(His3050Gln)	NC_000014.8:g.105412638G>C	VUS	1 lab	97eff05737
6:33399988 SYNGAP1 T>C	6	33399988	33399988	T	C	SYNGAP1	c.346T>C	NM_006772.3	NP_006763.2:p.(Tyr116His)	NC_000006.11:g.33399988T>C	VUS	1 lab	97f0c72e56
1:153784551 GATAD2B C>A	1	153784551	153784551	C	A	GATAD2B	c.1477G>T	NM_020699.4	NP_065750.1:p.(Val493Leu)	NC_000001.10:g.153784551C>A	(Likely) benign	1 lab	97f0ebbf7e
X:70347738 MED12 T>C	X	70347738	70347738	T	C	MED12	c.2982-5T>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70347738T>C	(Likely) benign	1 lab	97f14043c7
11:61533546 MYRF C>T	11	61533546	61533546	C	T	MYRF	c.251C>T	NM_001127392.3	NP_001120864.1:p.(Pro84Leu)	NC_000011.9:g.61533546C>T	VUS	1 lab	97f190c999
16:70305771 AARS1 A>G	16	70305771	70305771	A	G	AARS1	c.584T>C	NM_001605.3	NP_001596.2:p.(Ile195Thr)	NC_000016.9:g.70305771A>G	VUS	1 lab	97f1d132da
5:122751733 CEP120 C>A	5	122751733	122751733	C	A	CEP120	c.292G>T	NM_001375405.1	NP_001362334.1:p.(Asp98Tyr)	NC_000005.9:g.122751733C>A	VUS	1 lab	97f2281ef6
19:7293891 INSR C>A	19	7293891	7293891	C	A	INSR	c.12G>T	NM_000208.4	NP_000199.2:p.(Gly4=)	NC_000019.9:g.7293891C>A	(Likely) benign	1 lab	97f310bfff
5:13788935 DNAH5 G>A	5	13788935	13788935	G	A	DNAH5	c.8537C>T	NM_001369.3	NP_001360.1:p.(Ala2846Val)	NC_000005.9:g.13788935G>A	(Likely) benign	1 lab	97f44d260e
11:124621363 VSIG2 A>T	11	124621363	124621363	A	T	VSIG2	c.175T>A	NM_014312.5	NP_055127.2:p.(Trp59Arg)	NC_000011.9:g.124621363A>T	VUS	1 lab	97f5627ca4
2:152402878 NEB C>T	2	152402878	152402878	C	T	NEB	c.20447G>A	NM_001164508.2	NP_001157980.2:p.(Arg6816Gln)	NC_000002.11:g.152402878C>T	VUS	1 lab	97f6ffcd7d
X:7175312 STS G>T	X	7175312	7175312	G	T	STS	c.167G>T	NM_001320752.2	NP_001307681.2:p.(Gly56Val)	NC_000023.10:g.7175312G>T	(Likely) benign	1 lab	97f86f0375
6:108222653 SEC63 G>A	6	108222653	108222653	G	A	SEC63	c.1278C>T	NM_007214.5	NP_009145.1:p.(Phe426=)	NC_000006.11:g.108222653G>A	(Likely) benign	1 lab	3347365ea7
3:196199376 RNF168 C>T	3	196199376	196199376	C	T	RNF168	c.1030G>A	NM_152617.4	NP_689830.2:p.(Ala344Thr)	NC_000003.11:g.196199376C>T	(Likely) benign	1 lab	97f9844724
15:89400981 ACAN C>G	15	89400981	89400981	C	G	ACAN	c.5165C>G	NM_001369268.1	NP_001356197.1:p.(Ser1722Cys)	NC_000015.9:g.89400981C>G	(Likely) benign	1 lab	97f9c8dd32
2:160194292 BAZ2B C>G	2	160194292	160194292	C	G	BAZ2B	c.5455-9G>C	NM_013450.4	NP_038478.2:p.?	NC_000002.11:g.160194292C>G	(Likely) benign	1 lab	97faeaac58
1:59148136 MYSM1 T>C	1	59148136	59148136	T	C	MYSM1	c.580A>G	NM_001085487.3	NP_001078956.1:p.(Lys194Glu)	NC_000001.10:g.59148136T>C	(Likely) benign	1 lab	97fd170196
1:39709286 MACF1 A>T	1	39709286	39709286	A	T	MACF1	c.172-6400A>T	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39709286A>T	(Likely) benign	1 lab	97ffcdbebb
4:73957488 ANKRD17 T>A	4	73957488	73957488	T	A	ANKRD17	c.5857A>T	NM_032217.5	NP_115593.3:p.(Asn1953Tyr)	NC_000004.11:g.73957488T>A	VUS	1 lab	9800fc4037
X:6452180 VCX3A G>A	X	6452180	6452180	G	A	VCX3A	c.167C>T	NM_016379.4	NP_057463.2:p.(Ala56Val)	NC_000023.10:g.6452180G>A	(Likely) benign	1 lab	9801e9d01d
11:85979547 EED A>G	11	85979547	85979547	A	G	EED	c.910A>G	NM_003797.5	NP_003788.2:p.(Ile304Val)	NC_000011.9:g.85979547A>G	VUS	1 lab	9801edf482
4:995897 IDUA C>T	4	995897	995897	C	T	IDUA	c.920C>T	NM_000203.5	NP_000194.2:p.(Ser307Phe)	NC_000004.11:g.995897C>T	VUS	1 lab	9802efa159
11:1016892 MUC6 G>A	11	1016892	1016892	G	A	MUC6	c.5909C>T	NM_005961.3	NP_005952.2:p.(Ser1970Phe)	NC_000011.9:g.1016892G>A	(Likely) benign	1 lab	98052916bc
1:120457987 NOTCH2 C>G	1	120457987	120457987	C	G	NOTCH2	c.7358G>C	NM_024408.4	NP_077719.2:p.(Arg2453Pro)	NC_000001.10:g.120457987C>G	VUS	1 lab	980536b91d
10:75532152 POFUT4 G>A	10	75532152	75532152	G	A	POFUT4	c.61G>A	NM_173540.3	NP_775811.2:p.(Ala21Thr)	NC_000010.10:g.75532152G>A	VUS	1 lab	98074a081d
6:33143848 COL11A2 T>C	6	33143848	33143848	T	C	COL11A2	c.2215-2A>G	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33143848T>C	VUS	1 lab	980a136947
1:161042631 NECTIN4 C>T	1	161042631	161042631	C	T	NECTIN4	c.1353G>A	NM_030916.3	NP_112178.2:p.(Val451=)	NC_000001.10:g.161042631C>T	VUS	1 lab	980b53105e
X:153453282 OPN1MW C>G	X	153453282	153453282	C	G	OPN1MW	c.136C>G	NM_000513.2	NP_000504.1:p.(His46Asp)	NC_000023.10:g.153453282C>G	VUS	1 lab	980d0f65e4
22:22162126 MAPK1 A>G	22	22162126	22162126	A	G	MAPK1	c.129T>C	NM_002745.5	NP_002736.3:p.(Tyr43=)	NC_000022.10:g.22162126A>G	(Likely) benign	1 lab	980f0fed48
11:31822341 PAX6 C>T	11	31822341	31822341	C	T	PAX6	c.463G>A	NM_001368894.2	NP_001355823.1:p.(Gly155Ser)	NC_000011.9:g.31822341C>T	(Likely) benign	1 lab	98115cc8c4
X:101381813 TCEAL2 T>C	X	101381813	101381813	T	C	TCEAL2	c.11T>C	NM_080390.4	NP_525129.1:p.(Leu4Pro)	NC_000023.10:g.101381813T>C	(Likely) benign	1 lab	981219ee5e
7:128852183 SMO C>T	7	128852183	128852183	C	T	SMO	c.2255C>T	NM_005631.5	NP_005622.1:p.(Ala752Val)	NC_000007.13:g.128852183C>T	(Likely) benign	1 lab	9814da5e8f
X:154261764 FUNDC2 T>G	X	154261764	154261764	T	G	FUNDC2	c.220T>G	NM_023934.4	NP_076423.2:p.(Ser74Ala)	NC_000023.10:g.154261764T>G	(Likely) benign	1 lab	9815eabadc
12:88500446 CEP290 A>G	12	88500446	88500446	A	G	CEP290	c.2817+6T>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88500446A>G	(Likely) benign	1 lab	98166957c5
9:135947060 CEL C>T	9	135947060	135947060	C	T	CEL	c.2171C>T	NM_001807.6	NP_001798.3:p.(Pro724Leu)	NC_000009.11:g.135947060C>T	(Likely) benign	1 lab	98170e561b
16:30749892 SRCAP G>C	16	30749892	30749892	G	C	SRCAP	c.8531G>C	NM_006662.3	NP_006653.2:p.(Gly2844Ala)	NC_000016.9:g.30749892G>C	VUS	1 lab	981a8f0b0f
5:80063924 MSH3 A>G	5	80063924	80063924	A	G	MSH3	c.2069A>G	NM_002439.5	NP_002430.3:p.(Asn690Ser)	NC_000005.9:g.80063924A>G	VUS	1 lab	981c92e2a6
6:1613076 FOXC1 A>T	6	1613076	1613076	A	T	FOXC1	c.*734A>T	NM_001453.3	NP_001444.2:p.?	NC_000006.11:g.1613076A>T	(Likely) benign	1 lab	268628c518
2:179659164 TTN T>C	2	179659164	179659164	T	C	TTN	c.1360A>G	NM_001267550.2	NP_001254479.2:p.(Thr454Ala)	NC_000002.11:g.179659164T>C	VUS	1 lab	2687498a63
X:107977456 IRS4 C>A	X	107977456	107977456	C	A	IRS4	c.2119G>T	NM_001379150.1	NP_001366079.1:p.(Val707Leu)	NC_000023.10:g.107977456C>A	VUS	1 lab	981e5dd8d2
4:6303929 WFS1 G>A	4	6303929	6303929	G	A	WFS1	c.2407G>A	NM_006005.3	NP_005996.2:p.(Val803Met)	NC_000004.11:g.6303929G>A	VUS	1 lab	9830d3c17a
22:20713190 MISSING GAGGACGCCGCCCAGGGCATCGCACAC>G	22	20713190	20713216	GAGGACGCCGCCCAGGGCATCGCACAC	G	MISSING				NC_000022.10:g.20713191_20713216del	(Likely) benign	1 lab	981f98152a
15:28492019 HERC2 G>T	15	28492019	28492019	G	T	HERC2	c.3260C>A	NM_004667.6	NP_004658.3:p.(Ser1087Tyr)	NC_000015.9:g.28492019G>T	VUS	1 lab	98209f9f9f
4:74005577 ANKRD17 TCTCCAA>T	4	74005577	74005590	TCTCCAA	T	ANKRD17	c.2411_2416del	NM_001286771.3	NP_001273700.1:p.(Val804_Gly805del)	NC_000004.11:g.74005585_74005590del	VUS	1 lab	26885a5fa5
7:86468780 GRM3 T>A	7	86468780	86468780	T	A	GRM3	c.1950T>A	NM_000840.3	NP_000831.2:p.(Ser650Arg)	NC_000007.13:g.86468780T>A	(Likely) benign	1 lab	982284c1d0
16:72831261 ZFHX3 G>T	16	72831261	72831261	G	T	ZFHX3	c.5320C>A	NM_006885.4	NP_008816.3:p.(Pro1774Thr)	NC_000016.9:g.72831261G>T	VUS	1 lab	9824d8db64
6:43128534 PTK7 GC>TT	6	43128534	43128535	GC	TT	PTK7	c.3128_3129delinsTT	NM_002821.5	NP_002812.2:p.(Cys1043Phe)	NC_000006.11:g.43128534_43128535delinsTT	VUS	1 lab	982666de29
1:22188575 HSPG2 C>T	1	22188575	22188575	C	T	HSPG2	c.4774G>A	NM_005529.7	NP_005520.4:p.(Glu1592Lys)	NC_000001.10:g.22188575C>T	VUS	1 lab	9828671285
X:24329896 SUPT20HL2 C>CAGCAGG	X	24329896	24329925	C	CAGCAGG	SUPT20HL2	c.1531_1536dup	NM_001136233.3	NP_001129705.3:p.(Pro511_Ala512dup)	NC_000023.10:g.24329920_24329925dup	VUS	1 lab	9828d289bb
2:166771886 TTC21B G>A	2	166771886	166771886	G	A	TTC21B	c.1963C>T	NM_024753.5	NP_079029.3:p.(Arg655Trp)	NC_000002.11:g.166771886G>A	VUS	1 lab	98292b8173
6:158576371 SERAC1 TTTA>T	6	158576371	158576378	TTTA	T	SERAC1	c.101_103del	NM_032861.4	NP_116250.3:p.(Ile34del)	NC_000006.11:g.158576376_158576378del	VUS	1 lab	982acb8503
12:121416650 HNF1A A>AGGCACTGC	12	121416650	121416651	A	AGGCACTGC	HNF1A	c.79_80insGGCACTGC	NM_000545.8	NP_000536.6:p.(Ile27ArgfsTer131)	NC_000012.11:g.121416650_121416651insGGCACTGC	VUS	1 lab	982ad61283
19:47856648 DHX34 C>G	19	47856648	47856648	C	G	DHX34	c.361C>G	NM_014681.6	NP_055496.2:p.(Leu121Val)	NC_000019.9:g.47856648C>G	(Likely) benign	1 lab	982d41b999
5:13716627 DNAH5 C>T	5	13716627	13716627	C	T	DNAH5	c.12878G>A	NM_001369.3	NP_001360.1:p.(Ser4293Asn)	NC_000005.9:g.13716627C>T	(Likely) benign	1 lab	982ea8cbae
8:25174610 DOCK5 C>T	8	25174610	25174610	C	T	DOCK5	c.1406C>T	NM_024940.8	NP_079216.4:p.(Thr469Met)	NC_000008.10:g.25174610C>T	(Likely) benign	1 lab	9832e209ce
19:11145814 SMARCA4 T>TG	19	11145814	11145815	T	TG	SMARCA4	c.4170+7dup	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11145815dup	(Likely) benign	1 lab	9833d847e5
17:41243467 BRCA1 T>G	17	41243467	41243467	T	G	BRCA1	c.4081A>C	NM_007294.4	NP_009225.1:p.(Met1361Leu)	NC_000017.10:g.41243467T>G	(Likely) benign	1 lab	98343788bc
21:38529124 TTC3 C>T	21	38529124	38529124	C	T	TTC3	c.2908C>T	NM_001330683.2	NP_001317612.1:p.(Arg970Cys)	NC_000021.8:g.38529124C>T	VUS	1 lab	9834cc2f27
8:87623856 CNGB3 T>G	8	87623856	87623856	T	G	CNGB3	c.1622A>C	NM_019098.5	NP_061971.3:p.(Lys541Thr)	NC_000008.10:g.87623856T>G	VUS	1 lab	9834ee14ee
19:18279904 PIK3R2 G>C	19	18279904	18279904	G	C	PIK3R2	c.1987G>C	NM_005027.4	NP_005018.2:p.(Gly663Arg)	NC_000019.9:g.18279904G>C	(Likely) benign	1 lab	983507326b
4:70504823 UGT2A2 G>C	4	70504823	70504823	G	C	UGT2A2	c.536C>G	NM_001105677.2	NP_001099147.2:p.(Thr179Arg)	NC_000004.11:g.70504823G>C	VUS	1 lab	983689d56f
19:48945989 GRIN2D G>A	19	48945989	48945989	G	A	GRIN2D	c.2806G>A	NM_000836.4	NP_000827.2:p.(Glu936Lys)	NC_000019.9:g.48945989G>A	VUS	1 lab	2689bca30e
22:19963288 ARVCF G>C	22	19963288	19963288	G	C	ARVCF	c.1889-8C>G	NM_001670.3	NP_001661.1:p.?	NC_000022.10:g.19963288G>C	(Likely) benign	1 lab	983853afe7
3:38616951 SCN5A G>A	3	38616951	38616951	G	A	SCN5A	c.3509-9C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38616951G>A	(Likely) benign	1 lab	983a709fd6
20:60892077 LAMA5 A>C	20	60892077	60892077	A	C	LAMA5	c.7514T>G	NM_005560.6	NP_005551.3:p.(Ile2505Ser)	NC_000020.10:g.60892077A>C	(Likely) benign	1 lab	983bde4997
1:22166034 HSPG2 G>A	1	22166034	22166034	G	A	HSPG2	c.9719C>T	NM_005529.7	NP_005520.4:p.(Ala3240Val)	NC_000001.10:g.22166034G>A	(Likely) benign	1 lab	983c9a00d1
X:34149416 FAM47A G>C	X	34149416	34149416	G	C	FAM47A	c.980C>G	NM_203408.4	NP_981953.2:p.(Pro327Arg)	NC_000023.10:g.34149416G>C	(Likely) benign	1 lab	983d279f78
X:119496040 ATP1B4 G>A	X	119496040	119496040	G	A	ATP1B4	c.17G>A	NM_001142447.3	NP_001135919.1:p.(Arg6Gln)	NC_000023.10:g.119496040G>A	(Likely) benign	1 lab	983e320b4c
17:17083368 MPRIP G>A	17	17083368	17083368	G	A	MPRIP	c.7172G>A	NM_001364716.4	NP_001351645.2:p.(Cys2391Tyr)	NC_000017.10:g.17083368G>A	VUS	1 lab	983f74c573
11:34988233 PDHX G>A	11	34988233	34988233	G	A	PDHX	c.688G>A	NM_003477.3	NP_003468.2:p.(Glu230Lys)	NC_000011.9:g.34988233G>A	VUS	1 lab	9840d8292e
17:72736982 RAB37 G>A	17	72736982	72736982	G	A	RAB37	c.169G>A	NM_001006638.3	NP_001006639.1:p.(Gly57Arg)	NC_000017.10:g.72736982G>A	VUS	1 lab	9842a3bb30
7:129950826 CPA4 C>T	7	129950826	129950826	C	T	CPA4	c.993C>T	NM_016352.4	NP_057436.2:p.(Leu331=)	NC_000007.13:g.129950826C>T	(Likely) benign	1 lab	9842d8e3f9
X:13779337 OFD1 A>AT	X	13779337	13779338	A	AT	OFD1	c.2387+8dup	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13779338dup	(Likely) benign	1 lab	984319921f
11:1093468 MUC2 CAGACCCCAACCACGGTACTCATCACCACCACCACTACGATGACCCCAACCCCAACACCCACCAGCACAA>C	11	1093468	1093540	CAGACCCCAACCACGGTACTCATCACCACCACCACTACGATGACCCCAACCCCAACACCCACCAGCACAA	C	MUC2	c.12230_12298del	NM_002457.5	NP_002448.5:p.(Thr4077_Lys4099del)	NC_000011.9:g.1093472_1093540del	(Likely) benign	1 lab	98435f12fc
6:91226285 MAP3K7 G>C	6	91226285	91226285	G	C	MAP3K7	c.1756C>G	NM_145331.3	NP_663304.1:p.(Gln586Glu)	NC_000006.11:g.91226285G>C	(Likely) benign	1 lab	98438f35fa
17:7311815 NLGN2 G>A	17	7311815	7311815	G	A	NLGN2	c.241G>A	NM_020795.4	NP_065846.1:p.(Ala81Thr)	NC_000017.10:g.7311815G>A	VUS	1 lab	984672fb76
6:17794837 KIF13A T>C	6	17794837	17794837	T	C	KIF13A	c.3041A>G	NM_022113.6	NP_071396.4:p.(Asp1014Gly)	NC_000006.11:g.17794837T>C	VUS	1 lab	9847707c8c
2:170053486 LRP2 G>A	2	170053486	170053486	G	A	LRP2	c.8633C>T	NM_004525.3	NP_004516.2:p.(Pro2878Leu)	NC_000002.11:g.170053486G>A	VUS	1 lab	98499eaa4f
X:123191713 STAG2 C>A	X	123191713	123191713	C	A	STAG2	c.1305-3C>A	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123191713C>A	(Likely) benign	1 lab	984c055bdd
1:68906632 RPE65 T>C	1	68906632	68906632	T	C	RPE65	c.547A>G	NM_000329.3	NP_000320.1:p.(Ile183Val)	NC_000001.10:g.68906632T>C	VUS	1 lab	984d091837
X:153994483 DKC1 C>T	X	153994483	153994483	C	T	DKC1	c.264-8C>T	NM_001363.5	NP_001354.1:p.?	NC_000023.10:g.153994483C>T	(Likely) benign	1 lab	984f61afaf
5:58289443 PDE4D A>G	5	58289443	58289443	A	G	PDE4D	c.922-151T>C	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58289443A>G	(Likely) benign	1 lab	984f94294e
5:67591135 PIK3R1 G>A	5	67591135	67591135	G	A	PIK3R1	c.1728G>A	NM_181523.3	NP_852664.1:p.(Thr576=)	NC_000005.9:g.67591135G>A	(Likely) benign	1 lab	98543618bc
7:44272443 CAMK2B T>C	7	44272443	44272443	T	C	CAMK2B	c.1154A>G	NM_001220.5	NP_001211.3:p.(His385Arg)	NC_000007.13:g.44272443T>C	(Likely) benign	1 lab	9855439642
5:140175937 PCDHA1 T>G	5	140175937	140175937	T	G	PCDHA1	c.2394+7668T>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140175937T>G	(Likely) benign	1 lab	98560c23e4
X:47272965 ZNF157 G>A	X	47272965	47272965	G	A	ZNF157	c.1493G>A	NM_003446.4	NP_003437.2:p.(Arg498His)	NC_000023.10:g.47272965G>A	(Likely) benign	1 lab	98571f9675
8:133492748 KCNQ3 G>GC	8	133492748	133492753	G	GC	KCNQ3	c.31dup	NM_004519.4	NP_004510.1:p.(Ala11GlyfsTer17)	NC_000008.10:g.133492753dup	VUS	1 lab	985737c75d
16:29825138 PRRT2 G>A	16	29825138	29825138	G	A	PRRT2	c.763G>A	NM_145239.3	NP_660282.2:p.(Gly255Arg)	NC_000016.9:g.29825138G>A	VUS	1 lab	9858829fa2
22:45258353 ARHGAP8 C>A	22	45258353	45258353	C	A	ARHGAP8	c.1180C>A	NM_181335.3	NP_851852.2:p.(Pro394Thr)	NC_000022.10:g.45258353C>A	VUS	1 lab	985a1fc42a
19:12978590 MAST1 A>C	19	12978590	12978590	A	C	MAST1	c.2365A>C	NM_014975.3	NP_055790.1:p.(Ser789Arg)	NC_000019.9:g.12978590A>C	(Likely) benign	1 lab	985a334706
1:26769349 DHDDS G>A	1	26769349	26769349	G	A	DHDDS	c.308G>A	NM_205861.3	NP_995583.1:p.(Arg103His)	NC_000001.10:g.26769349G>A	(Likely) benign	1 lab	985a46e11c
X:53225872 KDM5C C>T	X	53225872	53225872	C	T	KDM5C	c.2977G>A	NM_004187.5	NP_004178.2:p.(Ala993Thr)	NC_000023.10:g.53225872C>T	VUS	1 lab	985ac6bcd1
7:44189556 GCK G>C	7	44189556	44189556	G	C	GCK	c.579+12C>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44189556G>C	(Likely) benign	1 lab	985c1fe736
17:61498312 TANC2 C>T	17	61498312	61498312	C	T	TANC2	c.5221C>T	NM_001394998.1	NP_001381927.1:p.(Arg1741Trp)	NC_000017.10:g.61498312C>T	VUS	1 lab	985caf0a5b
17:42927747 EFTUD2 G>A	17	42927747	42927747	G	A	EFTUD2	c.*895C>T	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42927747G>A	(Likely) benign	1 lab	985cb6ea17
10:17024491 CUBN A>G	10	17024491	17024491	A	G	CUBN	c.4687T>C	NM_001081.4	NP_001072.2:p.(Cys1563Arg)	NC_000010.10:g.17024491A>G	VUS	1 lab	986811b2bc
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537378	C	CCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.895_915dup	NM_004993.6	NP_004984.2:p.(Gln299_Gln305dup)	NC_000014.8:g.92537358_92537378dup	VUS	1 lab	985cb74507
9:139731969 RABL6 C>T	9	139731969	139731969	C	T	RABL6	c.984C>T	NM_001173988.2	NP_001167459.1:p.(Ala328=)	NC_000009.11:g.139731969C>T	(Likely) benign	1 lab	269038b456
8:100523317 VPS13B C>CT	8	100523317	100523324	C	CT	VPS13B	c.4225-8dup	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100523324dup	(Likely) benign	1 lab	985d92d654
17:73612461 MYO15B C>CAGGAGG	17	73612461	73612496	C	CAGGAGG	MYO15B	c.6208_6213dup	NM_001395058.1	NP_001381987.1:p.(Glu2070_Glu2071dup)	NC_000017.10:g.73612491_73612496dup	(Likely) benign	1 lab	985fb75e49
16:2158892 PKD1 G>T	16	2158892	2158892	G	T	PKD1	c.6276C>A	NM_001009944.3	NP_001009944.3:p.(Tyr2092Ter)	NC_000016.9:g.2158892G>T	(Likely) pathogenic	1 lab	9860856836
X:53459267 HSD17B10 C>T	X	53459267	53459267	C	T	HSD17B10	c.285G>A	NM_004493.2	NP_004484.1:p.(Ala95=)	NC_000023.10:g.53459267C>T	(Likely) benign	1 lab	28366f2575
1:1164081 SDF4 CAGA>C	1	1164081	1164086	CAGA	C	SDF4	c.69_71del	NM_016176.6	NP_057260.3:p.(Leu24del)	NC_000001.10:g.1164084_1164086del	VUS	1 lab	9862564bcc
1:154687433 KCNN3 T>C	1	154687433	154687433	T	C	KCNN3	c.1748A>G	NM_002249.6	NP_002240.3:p.(Tyr583Cys)	NC_000001.10:g.154687433T>C	VUS	1 lab	9862c96912
5:43174634 ZNF131 T>C	5	43174634	43174634	T	C	ZNF131	c.1271T>C	NM_001330707.2	NP_001317636.1:p.(Leu424Ser)	NC_000005.9:g.43174634T>C	VUS	1 lab	9862e787b7
10:96121503 NOC3L G>T	10	96121503	96121503	G	T	NOC3L	c.136C>A	NM_022451.11	NP_071896.8:p.(Gln46Lys)	NC_000010.10:g.96121503G>T	VUS	1 lab	9863e92955
3:53531182 CACNA1D C>G	3	53531182	53531182	C	G	CACNA1D	c.71C>G	NM_001128840.3	NP_001122312.1:p.(Ala24Gly)	NC_000003.11:g.53531182C>G	(Likely) benign	1 lab	98655d194e
2:182542977 NEUROD1 G>C	2	182542977	182542977	G	C	NEUROD1	c.611C>G	NM_002500.5	NP_002491.3:p.(Pro204Arg)	NC_000002.11:g.182542977G>C	VUS	1 lab	9865e88ce8
13:115091324 CHAMP1 C>G	13	115091324	115091324	C	G	CHAMP1	c.2007C>G	NM_032436.4	NP_115812.1:p.(Asn669Lys)	NC_000013.10:g.115091324C>G	(Likely) benign	1 lab	98661f81c9
12:132466771 EP400 G>C	12	132466771	132466771	G	C	EP400	c.1677G>C	NM_015409.5	NP_056224.3:p.(Gly559=)	NC_000012.11:g.132466771G>C	(Likely) benign	1 lab	986725992e
1:23383996 KDM1A T>C	1	23383996	23383996	T	C	KDM1A	c.1010T>C	NM_001009999.3	NP_001009999.1:p.(Val337Ala)	NC_000001.10:g.23383996T>C	VUS	1 lab	98694f808a
12:121881913 KDM2B CCTT>C	12	121881913	121881920	CCTT	C	KDM2B	c.2350_2352del	NM_032590.5	NP_115979.3:p.(Lys784del)	NC_000012.11:g.121881918_121881920del	(Likely) benign	1 lab	9869f5128e
20:35884893 GHRH C>T	20	35884893	35884893	C	T	GHRH	c.92G>A	NM_021081.6	NP_066567.1:p.(Arg31Gln)	NC_000020.10:g.35884893C>T	VUS	1 lab	986a809823
19:460963 SHC2 C>G	19	460963	460963	C	G	SHC2	c.34G>C	NM_012435.3	NP_036567.2:p.(Ala12Pro)	NC_000019.9:g.460963C>G	(Likely) benign	1 lab	986b77c2f3
8:9584165 TNKS C>T	8	9584165	9584165	C	T	TNKS	c.1936C>T	NM_003747.3	NP_003738.2:p.(Arg646Cys)	NC_000008.10:g.9584165C>T	VUS	1 lab	986c5db4d3
19:45849975 KLC3 G>T	19	45849975	45849975	G	T	KLC3	c.432G>T	NM_177417.3	NP_803136.2:p.(Lys144Asn)	NC_000019.9:g.45849975G>T	(Likely) benign	1 lab	986c986547
19:17974064 RPL18A T>A	19	17974064	17974064	T	A	RPL18A	c.523T>A	NM_000980.4	NP_000971.1:p.(Phe175Ile)	NC_000019.9:g.17974064T>A	VUS	1 lab	986db31011
15:72172883 MYO9A G>C	15	72172883	72172883	G	C	MYO9A	c.5415C>G	NM_006901.4	NP_008832.2:p.(His1805Gln)	NC_000015.9:g.72172883G>C	(Likely) benign	1 lab	986e439371
12:50344905 AQP2 G>T	12	50344905	50344905	G	T	AQP2	c.292G>T	NM_000486.6	NP_000477.1:p.(Val98Leu)	NC_000012.11:g.50344905G>T	VUS	1 lab	9870abcc9e
12:27835312 PPFIBP1 T>C	12	27835312	27835312	T	C	PPFIBP1	c.2047-8T>C	NM_003622.4	NP_003613.4:p.?	NC_000012.11:g.27835312T>C	(Likely) benign	1 lab	9871332d8b
X:32834566 DMD G>A	X	32834566	32834566	G	A	DMD	c.530+19C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32834566G>A	(Likely) benign	1 lab	9872b23f30
4:42445660 ATP8A1 G>A	4	42445660	42445660	G	A	ATP8A1	c.3045C>T	NM_006095.2	NP_006086.1:p.(Ile1015=)	NC_000004.11:g.42445660G>A	VUS	1 lab	9872d57141
9:133884779 LAMC3 G>T	9	133884779	133884779	G	T	LAMC3	c.178G>T	NM_006059.4	NP_006050.3:p.(Asp60Tyr)	NC_000009.11:g.133884779G>T	VUS	1 lab	98735f011b
2:85777205 GGCX C>T	2	85777205	85777205	C	T	GGCX	c.2129G>A	NM_000821.7	NP_000812.2:p.(Arg710His)	NC_000002.11:g.85777205C>T	VUS	1 lab	26903c6778
14:105848247 PACS2 A>G	14	105848247	105848247	A	G	PACS2	c.1269-4A>G	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105848247A>G	(Likely) benign	1 lab	987494f3f7
1:152084567 TCHH G>C	1	152084567	152084567	G	C	TCHH	c.1126C>G	NM_007113.4	NP_009044.2:p.(Gln376Glu)	NC_000001.10:g.152084567G>C	VUS	1 lab	987530c5a7
17:47218737 B4GALNT2 C>T	17	47218737	47218737	C	T	B4GALNT2	c.143C>T	NM_001159387.2	NP_001152859.1:p.(Ala48Val)	NC_000017.10:g.47218737C>T	(Likely) benign	1 lab	987572e177
19:49994678 RPL13A G>A	19	49994678	49994678	G	A	RPL13A	c.403-4G>A	NM_012423.4	NP_036555.1:p.?	NC_000019.9:g.49994678G>A	(Likely) benign	1 lab	9875a42e99
17:16843703 TNFRSF13B C>T	17	16843703	16843703	C	T	TNFRSF13B	c.568G>A	NM_012452.3	NP_036584.1:p.(Gly190Arg)	NC_000017.10:g.16843703C>T	VUS	1 lab	9876396b23
20:47989774 KCNB1 G>T	20	47989774	47989774	G	T	KCNB1	c.2323C>A	NM_004975.4	NP_004966.1:p.(Pro775Thr)	NC_000020.10:g.47989774G>T	(Likely) benign	1 lab	98763eeedc
6:74476720 CD109 A>G	6	74476720	74476720	A	G	CD109	c.1484A>G	NM_133493.5	NP_598000.2:p.(Glu495Gly)	NC_000006.11:g.74476720A>G	(Likely) benign	1 lab	9876b09be2
14:94712810 PPP4R4 T>G	14	94712810	94712810	T	G	PPP4R4	c.1545T>G	NM_058237.2	NP_478144.1:p.(His515Gln)	NC_000014.8:g.94712810T>G	VUS	1 lab	9876e662f5
16:2097840 TSC2 A>C	16	2097840	2097840	A	C	TSC2				NC_000016.9:g.2097840A>C	VUS	1 lab	2690474c11
16:58581484 CNOT1 G>T	16	58581484	58581484	G	T	CNOT1	c.3625C>A	NM_016284.5	NP_057368.3:p.(Pro1209Thr)	NC_000016.9:g.58581484G>T	(Likely) benign	1 lab	98791d9851
2:218745717 TNS1 C>G	2	218745717	218745717	C	G	TNS1	c.1333G>C	NM_001387777.1	NP_001374706.1:p.(Gly445Arg)	NC_000002.11:g.218745717C>G	(Likely) benign	1 lab	98799fa305
7:92764880 SAMD9L A>G	7	92764880	92764880	A	G	SAMD9L	c.405T>C	NM_152703.5	NP_689916.2:p.(Ile135=)	NC_000007.13:g.92764880A>G	(Likely) benign	1 lab	2838ec250e
19:4101111 MAP2K2 G>C	19	4101111	4101111	G	C	MAP2K2	c.611C>G	NM_030662.4	NP_109587.1:p.(Ser204Cys)	NC_000019.9:g.4101111G>C	VUS	1 lab	987be548dd
3:47108560 SETD2 T>C	3	47108560	47108560	T	C	SETD2	c.6109A>G	NM_014159.7	NP_054878.5:p.(Thr2037Ala)	NC_000003.11:g.47108560T>C	(Likely) benign	1 lab	987d64fe65
14:20850171 TEP1 G>A	14	20850171	20850171	G	A	TEP1	c.4325C>T	NM_007110.5	NP_009041.2:p.(Pro1442Leu)	NC_000014.8:g.20850171G>A	(Likely) benign	1 lab	987da5f4da
15:89398133 ACAN GA>G	15	89398133	89398135	GA	G	ACAN	c.2319del	NM_001369268.1	NP_001356197.1:p.(Gly774AlafsTer36)	NC_000015.9:g.89398135del	(Likely) pathogenic	1 lab	987e5edffd
1:209879184 HSD11B1 C>T	1	209879184	209879184	C	T	HSD11B1	c.117C>T	NM_005525.4	NP_005516.1:p.(Val39=)	NC_000001.10:g.209879184C>T	(Likely) benign	1 lab	987eb8f608
19:31768754 TSHZ3 C>G	19	31768754	31768754	C	G	TSHZ3	c.1945G>C	NM_020856.4	NP_065907.2:p.(Glu649Gln)	NC_000019.9:g.31768754C>G	VUS	1 lab	987f073ced
14:74424866 COQ6 C>T	14	74424866	74424866	C	T	COQ6	c.498C>T	NM_182476.3	NP_872282.1:p.(Leu166=)	NC_000014.8:g.74424866C>T	(Likely) benign	1 lab	98812e1ff4
21:34923515 SON AC>A	21	34923515	34923516	AC	A	SON	c.1979del	NM_138927.4	NP_620305.3:p.(Thr660LysfsTer8)	NC_000021.8:g.34923516del	(Likely) pathogenic	1 lab	98833d2bc6
3:128621415 ACAD9 A>G	3	128621415	128621415	A	G	ACAD9	c.902A>G	NM_014049.5	NP_054768.2:p.(Asn301Ser)	NC_000003.11:g.128621415A>G	VUS	1 lab	26933dccbf
8:144992486 PLEC C>T	8	144992486	144992486	C	T	PLEC	c.11503G>A	NM_201384.3	NP_958786.1:p.(Asp3835Asn)	NC_000008.10:g.144992486C>T	VUS	1 lab	98845a18d1
X:39932820 BCOR G>T	X	39932820	39932820	G	T	BCOR	c.1779C>A	NM_001123385.2	NP_001116857.1:p.(Ser593=)	NC_000023.10:g.39932820G>T	(Likely) benign	1 lab	98848ed464
1:152280847 FLG G>A	1	152280847	152280847	G	A	FLG	c.6515C>T	NM_002016.2	NP_002007.1:p.(Thr2172Ile)	NC_000001.10:g.152280847G>A	(Likely) benign	1 lab	988566270f
6:118790297 CEP85L C>G	6	118790297	118790297	C	G	CEP85L	c.2192G>C	NM_001042475.3	NP_001035940.1:p.(Ser731Thr)	NC_000006.11:g.118790297C>G	(Likely) benign	1 lab	9885708863
14:65246350 SPTB A>G	14	65246350	65246350	A	G	SPTB	c.4473+93T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65246350A>G	(Likely) benign	1 lab	334c7aa39a
17:61489461 TANC2 G>A	17	61489461	61489461	G	A	TANC2	c.3868G>A	NM_001394998.1	NP_001381927.1:p.(Val1290Ile)	NC_000017.10:g.61489461G>A	(Likely) benign	1 lab	9885fdea0a
14:37050577 NKX2-8 T>C	14	37050577	37050577	T	C	NKX2-8	c.250A>G	NM_014360.4	NP_055175.2:p.(Arg84Gly)	NC_000014.8:g.37050577T>C	VUS	1 lab	992fc726fa
X:7193988 STS G>T	X	7193988	7193988	G	T	STS	c.807-4G>T	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7193988G>T	(Likely) benign	1 lab	9886d3366b
18:11872396 GNAL C>T	18	11872396	11872396	C	T	GNAL	c.1161C>T	NM_182978.4	NP_892023.1:p.(Asp387=)	NC_000018.9:g.11872396C>T	VUS	1 lab	9887944e97
7:44186174 GCK G>A	7	44186174	44186174	G	A	GCK	c.907C>T	NM_000162.5	NP_000153.1:p.(Arg303Trp)	NC_000007.13:g.44186174G>A	(Likely) pathogenic	1 lab	9888376371
21:19685292 TMPRSS15 G>C	21	19685292	19685292	G	C	TMPRSS15	c.2135C>G	NM_002772.3	NP_002763.3:p.(Ser712Ter)	NC_000021.8:g.19685292G>C	(Likely) pathogenic	1 lab	988863b632
9:108366508 FKTN C>T	9	108366508	108366508	C	T	FKTN	c.382C>T	NM_001079802.2	NP_001073270.1:p.(Arg128Trp)	NC_000009.11:g.108366508C>T	VUS	1 lab	9888782e39
8:145577614 CATSPERQ C>T	8	145577614	145577614	C	T	CATSPERQ	c.442G>A	NM_001280561.2	NP_001267490.1:p.(Ala148Thr)	NC_000008.10:g.145577614C>T	VUS	1 lab	98895c39de
2:149247598 MBD5 A>G	2	149247598	149247598	A	G	MBD5	c.4397A>G	NM_001378120.1	NP_001365049.1:p.(Asn1466Ser)	NC_000002.11:g.149247598A>G	(Likely) benign	1 lab	98898df537
22:20067911 DGCR8 G>A	22	20067911	20067911	G	A	DGCR8	c.-278+5G>A	NM_022720.7	NP_073557.3:p.?	NC_000022.10:g.20067911G>A	VUS	1 lab	988a370d76
4:84502765 GPAT3 C>T	4	84502765	84502765	C	T	GPAT3	c.259C>T	NM_032717.5	NP_116106.2:p.(Arg87Ter)	NC_000004.11:g.84502765C>T	VUS	1 lab	988b781850
5:176710874 NSD1 G>T	5	176710874	176710874	G	T	NSD1	c.6096G>T	NM_022455.5	NP_071900.2:p.(Trp2032Cys)	NC_000005.9:g.176710874G>T	(Likely) pathogenic	1 lab	988e0a8e2c
15:89414749 ACAN C>A	15	89414749	89414749	C	A	ACAN	c.7197C>A	NM_001369268.1	NP_001356197.1:p.(Pro2399=)	NC_000015.9:g.89414749C>A	VUS	1 lab	988f239cc2
1:220213540 EPRS1 G>A	1	220213540	220213540	G	A	EPRS1	c.118C>T	NM_004446.3	NP_004437.2:p.(Leu40Phe)	NC_000001.10:g.220213540G>A	VUS	1 lab	988f8da105
2:163133977 IFIH1 C>A	2	163133977	163133977	C	A	IFIH1	c.1992G>T	NM_022168.4	NP_071451.2:p.(Lys664Asn)	NC_000002.11:g.163133977C>A	VUS	1 lab	989133507a
X:31164532 DMD C>T	X	31164532	31164532	C	T	DMD	c.10798-1G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31164532C>T	VUS	1 lab	9891e99f31
8:77617897 ZFHX4 C>T	8	77617897	77617897	C	T	ZFHX4	c.1574C>T	NM_024721.5	NP_078997.4:p.(Ser525Phe)	NC_000008.10:g.77617897C>T	VUS	1 lab	98926ebf77
12:48272741 VDR G>GA	12	48272741	48272742	G	GA	VDR	c.146+9dup	NM_000376.3	NP_000367.1:p.?	NC_000012.11:g.48272742dup	(Likely) benign	1 lab	9893d5d31b
19:618592 POLRMT G>A	19	618592	618592	G	A	POLRMT	c.3324-6C>T	NM_005035.4	NP_005026.3:p.?	NC_000019.9:g.618592G>A	(Likely) benign	1 lab	989442ed8f
9:111899877 FRRS1L G>A	9	111899877	111899877	G	A	FRRS1L	c.740C>T	NM_014334.4	NP_055149.3:p.(Pro247Leu)	NC_000009.11:g.111899877G>A	VUS	1 lab	9895f6bb2a
13:108862671 LIG4 GA>G	13	108862671	108862673	GA	G	LIG4	c.945del	NM_206937.2	NP_996820.1:p.(His316IlefsTer17)	NC_000013.10:g.108862673del	(Likely) pathogenic	1 lab	9897b66577
8:144993687 PLEC G>T	8	144993687	144993687	G	T	PLEC	c.10302C>A	NM_201384.3	NP_958786.1:p.(Thr3434=)	NC_000008.10:g.144993687G>T	VUS	1 lab	98984aee2c
2:179431963 TTN A>T	2	179431963	179431963	A	T	TTN	c.78896T>A	NM_001267550.2	NP_001254479.2:p.(Val26299Asp)	NC_000002.11:g.179431963A>T	VUS	1 lab	9898847c21
16:88502468 ZNF469 C>G	16	88502468	88502468	C	G	ZNF469	c.8590C>G	NM_001367624.2	NP_001354553.1:p.(Pro2864Ala)	NC_000016.9:g.88502468C>G	VUS	1 lab	9899024ba6
4:183601744 TENM3 G>A	4	183601744	183601744	G	A	TENM3	c.1688G>A	NM_001080477.4	NP_001073946.1:p.(Arg563His)	NC_000004.11:g.183601744G>A	VUS	1 lab	989c18859b
21:47406851 COL6A1 C>G	21	47406851	47406851	C	G	COL6A1	c.589-7C>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47406851C>G	(Likely) benign	1 lab	989cc5574c
20:60578846 TAF4 G>GGCT	20	60578846	60578851	G	GGCT	TAF4	c.2309_2311dup	NM_003185.4	NP_003176.2:p.(Gln770dup)	NC_000020.10:g.60578849_60578851dup	VUS	1 lab	989e57bfea
8:29024913 KIF13B G>A	8	29024913	29024913	G	A	KIF13B	c.1135C>T	NM_015254.4	NP_056069.2:p.(Arg379Trp)	NC_000008.10:g.29024913G>A	VUS	1 lab	989f93d2a2
12:91371957 EPYC T>C	12	91371957	91371957	T	C	EPYC	c.248A>G	NM_004950.5	NP_004941.2:p.(Glu83Gly)	NC_000012.11:g.91371957T>C	(Likely) benign	1 lab	98a1d10a8c
1:176738875 PAPPA2 C>G	1	176738875	176738875	C	G	PAPPA2	c.4456C>G	NM_020318.3	NP_064714.2:p.(Leu1486Val)	NC_000001.10:g.176738875C>G	VUS	1 lab	98a30e6b0c
12:116420945 MED13L C>G	12	116420945	116420945	C	G	MED13L	c.4932G>C	NM_015335.5	NP_056150.1:p.(Gln1644His)	NC_000012.11:g.116420945C>G	(Likely) benign	1 lab	98a3743637
X:49834538 CLCN5 C>A	X	49834538	49834538	C	A	CLCN5	c.168C>A	NM_001127898.4	NP_001121370.1:p.(Asp56Glu)	NC_000023.10:g.49834538C>A	(Likely) benign	1 lab	98a4d8878c
5:149900422 NDST1 C>T	5	149900422	149900422	C	T	NDST1	c.-387-8C>T	NM_001543.5	NP_001534.1:p.?	NC_000005.9:g.149900422C>T	(Likely) benign	1 lab	98a4ed3e03
1:27087458 ARID1A C>T	1	27087458	27087458	C	T	ARID1A	c.2032C>T	NM_006015.6	NP_006006.3:p.(Gln678Ter)	NC_000001.10:g.27087458C>T	(Likely) pathogenic	1 lab	98a5773d24
13:52364230 DHRS12 TAA>T	13	52364230	52364234	TAA	T	DHRS12	c.220-4_220-3del	NM_001377533.1	NP_001364462.1:p.?	NC_000013.10:g.52364233_52364234del	(Likely) benign	1 lab	98a5a1fd29
17:48674235 CACNA1G G>A	17	48674235	48674235	G	A	CACNA1G	c.3209G>A	NM_018896.5	NP_061496.2:p.(Ser1070Asn)	NC_000017.10:g.48674235G>A	VUS	1 lab	98a5b8006e
7:116411974 MET C>T	7	116411974	116411974	C	T	MET	c.2959C>T	NM_000245.4	NP_000236.2:p.(Arg987Ter)	NC_000007.13:g.116411974C>T	VUS	1 lab	98a5c3ac56
2:88748268 FOXI3 G>A	2	88748268	88748268	G	A	FOXI3	c.721C>T	NM_001135649.3	NP_001129121.1:p.(Arg241Cys)	NC_000002.11:g.88748268G>A	VUS	1 lab	98b85917c0
14:105414749 AHNAK2 TCAAC>T	14	105414749	105414753	TCAAC	T	AHNAK2	c.7035_7038del	NM_138420.4	NP_612429.2:p.(Leu2346ArgfsTer6)	NC_000014.8:g.105414750_105414753del	VUS	1 lab	98a5eb3603
X:595338 SHOX C>A	X	595338	595338	C	A	SHOX	c.278-15C>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.595338C>A	(Likely) benign	1 lab	98a8db4b73
6:70972973 COL9A1 C>T	6	70972973	70972973	C	T	COL9A1	c.1369G>A	NM_001851.6	NP_001842.3:p.(Gly457Arg)	NC_000006.11:g.70972973C>T	VUS	1 lab	98aa3a55b0
12:21982118 ABCC9 T>G	12	21982118	21982118	T	G	ABCC9	c.3567-124A>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21982118T>G	(Likely) benign	1 lab	98ab6c8a61
2:97526602 SEMA4C C>T	2	97526602	97526602	C	T	SEMA4C	c.2263G>A	NM_017789.5	NP_060259.4:p.(Gly755Ser)	NC_000002.11:g.97526602C>T	(Likely) benign	1 lab	98aefbf8bb
16:2166545 PKD1 CG>C	16	2166545	2166549	CG	C	PKD1	c.1706del	NM_001009944.3	NP_001009944.3:p.(Pro569ArgfsTer15)	NC_000016.9:g.2166549del	(Likely) pathogenic	1 lab	98af38ddf1
17:1248793 YWHAE C>A	17	1248793	1248793	C	A	YWHAE	c.716G>T	NM_006761.5	NP_006752.1:p.(Gly239Val)	NC_000017.10:g.1248793C>A	(Likely) benign	1 lab	98b2183d96
X:17394445 NHS C>T	X	17394445	17394445	C	T	NHS	c.565C>T	NM_001291867.2	NP_001278796.1:p.(Pro189Ser)	NC_000023.10:g.17394445C>T	(Likely) benign	1 lab	98b325f9b8
11:126391225 KIRREL3 G>A	11	126391225	126391225	G	A	KIRREL3	c.418C>T	NM_032531.4	NP_115920.1:p.(Arg140Cys)	NC_000011.9:g.126391225G>A	VUS	1 lab	98b39173c6
17:41209069 BRCA1 C>T	17	41209069	41209069	C	T	BRCA1	c.5277G>A	NM_007294.4	NP_009225.1:p.(Lys1759=)	NC_000017.10:g.41209069C>T	VUS	1 lab	2695330088
8:145662262 TONSL C>T	8	145662262	145662262	C	T	TONSL	c.1768G>A	NM_013432.5	NP_038460.4:p.(Asp590Asn)	NC_000008.10:g.145662262C>T	VUS	1 lab	98b41fd87c
1:61554115 NFIA C>CCAGACCAGAAAGGCAAGATGCGA	1	61554115	61554138	C	CCAGACCAGAAAGGCAAGATGCGA	NFIA	c.323_345dup	NM_001134673.4	NP_001128145.1:p.(Arg116GlnfsTer27)	NC_000001.10:g.61554116_61554138dup	VUS	1 lab	98b52553df
3:13438971 NUP210 G>A	3	13438971	13438971	G	A	NUP210	c.322C>T	NM_024923.4	NP_079199.2:p.(Arg108Cys)	NC_000003.11:g.13438971G>A	VUS	1 lab	98b6f3d99c
11:61547323 MYRF G>A	11	61547323	61547323	G	A	MYRF	c.2257G>A	NM_001127392.3	NP_001120864.1:p.(Val753Met)	NC_000011.9:g.61547323G>A	(Likely) benign	1 lab	98b6f6ecee
10:104389912 SUFU G>T	10	104389912	104389912	G	T	SUFU	c.1455G>T	NM_016169.4	NP_057253.2:p.(Ter485TyrextTer36)	NC_000010.10:g.104389912G>T	VUS	1 lab	98b83cd148
12:49447305 KMT2D G>A	12	49447305	49447305	G	A	KMT2D	c.793C>T	NM_003482.4	NP_003473.3:p.(Arg265Cys)	NC_000012.11:g.49447305G>A	(Likely) benign	1 lab	98b8fd808e
X:140993409 MAGEC1 G>A	X	140993409	140993409	G	A	MAGEC1	c.219G>A	NM_005462.5	NP_005453.2:p.(Gly73=)	NC_000023.10:g.140993409G>A	(Likely) benign	1 lab	98baee78eb
1:6202464 CHD5 G>A	1	6202464	6202464	G	A	CHD5	c.2235+10C>T	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6202464G>A	(Likely) benign	1 lab	98baf9ae37
12:52080146 SCN8A C>T	12	52080146	52080146	C	T	SCN8A	c.396-6C>T	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52080146C>T	(Likely) benign	1 lab	98bb4651d8
16:88925164 TRAPPC2L C>T	16	88925164	88925164	C	T	TRAPPC2L	c.171C>T	NM_001318525.2	NP_001305454.1:p.(Tyr57=)	NC_000016.9:g.88925164C>T	(Likely) benign	1 lab	98bba9590e
7:21901501 DNAH11 G>A	7	21901501	21901501	G	A	DNAH11	c.11233G>A	NM_001277115.2	NP_001264044.1:p.(Glu3745Lys)	NC_000007.13:g.21901501G>A	(Likely) benign	1 lab	98bc50b112
X:149012844 MAGEA8 C>T	X	149012844	149012844	C	T	MAGEA8	c.-125-3C>T	NM_005364.5	NP_005355.2:p.?	NC_000023.10:g.149012844C>T	(Likely) benign	1 lab	98bcbcde13
Y:15409609 UTY G>C	Y	15409609	15409609	G	C	UTY	c.3988C>G	NM_001258249.2	NP_001245178.1:p.(Pro1330Ala)	NC_000024.9:g.15409609G>C	VUS	1 lab	98bde2859e
17:66547263 FAM20A T>G	17	66547263	66547263	T	G	FAM20A	c.719+751A>C	NM_017565.4	NP_060035.2:p.?	NC_000017.10:g.66547263T>G	VUS	1 lab	98be26ff9d
14:23894147 MYH7 T>A	14	23894147	23894147	T	A	MYH7	c.2510A>T	NM_000257.4	NP_000248.2:p.(Lys837Met)	NC_000014.8:g.23894147T>A	VUS	1 lab	26973a85c7
19:15297937 NOTCH3 G>A	19	15297937	15297937	G	A	NOTCH3	c.1819C>T	NM_000435.3	NP_000426.2:p.(Arg607Cys)	NC_000019.9:g.15297937G>A	(Likely) pathogenic	1 lab	98c0f62858
14:58958950 KIAA0586 A>C	14	58958950	58958950	A	C	KIAA0586	c.3947A>C	NM_001329943.3	NP_001316872.1:p.(Asn1316Thr)	NC_000014.8:g.58958950A>C	(Likely) benign	1 lab	98c18321ce
2:152695660 CACNB4 A>G	2	152695660	152695660	A	G	CACNB4	c.1434T>C	NM_001005747.4	NP_001005747.1:p.(Tyr478=)	NC_000002.11:g.152695660A>G	(Likely) benign	1 lab	2840b648e2
X:8138168 VCX2 C>G	X	8138168	8138168	C	G	VCX2	c.325G>C	NM_016378.3	NP_057462.2:p.(Glu109Gln)	NC_000023.10:g.8138168C>G	VUS	1 lab	98c24adbae
5:14482732 TRIO A>G	5	14482732	14482732	A	G	TRIO	c.6507A>G	NM_007118.4	NP_009049.2:p.(Thr2169=)	NC_000005.9:g.14482732A>G	(Likely) benign	1 lab	98c3ece0e1
10:17113547 CUBN C>T	10	17113547	17113547	C	T	CUBN	c.2503G>A	NM_001081.4	NP_001072.2:p.(Val835Met)	NC_000010.10:g.17113547C>T	VUS	1 lab	98c6ddfb7c
11:57564292 CTNND1 C>T	11	57564292	57564292	C	T	CTNND1	c.784C>T	NM_001085458.2	NP_001078927.1:p.(Gln262Ter)	NC_000011.9:g.57564292C>T	(Likely) pathogenic	1 lab	98c6e11262
12:111701615 CUX2 T>G	12	111701615	111701615	T	G	CUX2	c.273T>G	NM_015267.4	NP_056082.2:p.(Ser91Arg)	NC_000012.11:g.111701615T>G	VUS	1 lab	98c7aca95d
1:155490657 ASH1L A>T	1	155490657	155490657	A	T	ASH1L	c.420+234T>A	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155490657A>T	(Likely) benign	1 lab	98c82957d5
19:10662621 ATG4D C>T	19	10662621	10662621	C	T	ATG4D	c.1015C>T	NM_032885.6	NP_116274.3:p.(Arg339Ter)	NC_000019.9:g.10662621C>T	VUS	1 lab	98c877bc19
1:161600940 FCGR3B A>C	1	161600940	161600940	A	C	FCGR3B	c.-56T>G	NM_001244753.2	NP_001231682.2:p.?	NC_000001.10:g.161600940A>C	(Likely) benign	1 lab	98ca1ddf7c
5:134364622 PITX1 G>C	5	134364622	134364622	G	C	PITX1	c.792C>G	NM_002653.5	NP_002644.4:p.(Tyr264Ter)	NC_000005.9:g.134364622G>C	VUS	1 lab	98caa4c524
18:46812901 DYM C>T	18	46812901	46812901	C	T	DYM	c.849G>A	NM_001353214.3	NP_001340143.1:p.(Gln283=)	NC_000018.9:g.46812901C>T	(Likely) benign	1 lab	98cbf7898b
5:179043888 HNRNPH1 T>G	5	179043888	179043888	T	G	HNRNPH1	c.1189A>C	NM_001257293.2	NP_001244222.1:p.(Met397Leu)	NC_000005.9:g.179043888T>G	VUS	1 lab	98cc38d703
2:238274499 COL6A3 G>A	2	238274499	238274499	G	A	COL6A3	c.5680C>T	NM_004369.4	NP_004360.2:p.(Pro1894Ser)	NC_000002.11:g.238274499G>A	VUS	1 lab	98cc585193
9:135263575 TTF1 T>C	9	135263575	135263575	T	C	TTF1	c.2263A>G	NM_007344.4	NP_031370.2:p.(Ile755Val)	NC_000009.11:g.135263575T>C	(Likely) benign	1 lab	98cd177936
15:42686537 CAPN3 T>A	15	42686537	42686537	T	A	CAPN3	c.1113T>A	NM_000070.3	NP_000061.1:p.(Asp371Glu)	NC_000015.9:g.42686537T>A	(Likely) benign	1 lab	98cd299e0b
5:127700358 FBN2 C>G	5	127700358	127700358	C	G	FBN2	c.2363G>C	NM_001999.4	NP_001990.2:p.(Arg788Pro)	NC_000005.9:g.127700358C>G	VUS	1 lab	98cdae91e0
1:19454206 UBR4 C>T	1	19454206	19454206	C	T	UBR4	c.9139G>A	NM_020765.3	NP_065816.2:p.(Ala3047Thr)	NC_000001.10:g.19454206C>T	(Likely) benign	1 lab	98ce54f216
12:66221810 HMGA2 AC>A	12	66221810	66221813	AC	A	HMGA2	c.144del	NM_003483.6	NP_003474.1:p.(Arg49GlyfsTer117)	NC_000012.11:g.66221813del	(Likely) pathogenic	1 lab	98ce683668
2:219920240 IHH C>T	2	219920240	219920240	C	T	IHH	c.925G>A	NM_002181.4	NP_002172.2:p.(Val309Met)	NC_000002.11:g.219920240C>T	(Likely) benign	1 lab	98cf505024
17:10550692 MYH3 C>A	17	10550692	10550692	C	A	MYH3	c.787G>T	NM_002470.4	NP_002461.2:p.(Asp263Tyr)	NC_000017.10:g.10550692C>A	VUS	1 lab	98d23d48b4
15:42703179 CAPN3 T>TTC	15	42703179	42703180	T	TTC	CAPN3	c.2361_2362insTC	NM_000070.3	NP_000061.1:p.(Arg788SerfsTer96)	NC_000015.9:g.42703179_42703180insTC	VUS	1 lab	98d2ba8066
8:57080722 PLAG1 C>A	8	57080722	57080722	C	A	PLAG1	c.107G>T	NM_002655.3	NP_002646.2:p.(Cys36Phe)	NC_000008.10:g.57080722C>A	VUS	1 lab	98d3a70f89
12:121437366 HNF1A C>T	12	121437366	121437366	C	T	HNF1A	c.1704C>T	NM_000545.8	NP_000536.6:p.(Pro568=)	NC_000012.11:g.121437366C>T	(Likely) benign	1 lab	98d4809c86
6:32946824 BRD2 G>T	6	32946824	32946824	G	T	BRD2	c.1842-43G>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946824G>T	(Likely) benign	1 lab	284176a555
15:94945151 MCTP2 G>A	15	94945151	94945151	G	A	MCTP2	c.1988G>A	NM_018349.4	NP_060819.3:p.(Arg663His)	NC_000015.9:g.94945151G>A	VUS	1 lab	269bd6d43d
7:100252740 ACTL6B C>T	7	100252740	100252740	C	T	ACTL6B	c.271G>A	NM_016188.5	NP_057272.1:p.(Glu91Lys)	NC_000007.13:g.100252740C>T	VUS	1 lab	98d91883e7
15:42695170 CAPN3 G>A	15	42695170	42695170	G	A	CAPN3	c.1715G>A	NM_000070.3	NP_000061.1:p.(Arg572Gln)	NC_000015.9:g.42695170G>A	(Likely) pathogenic	1 lab	98d972a8cb
3:128200155 GATA2 TG>T	3	128200155	128200156	TG	T	GATA2	c.1149del	NM_032638.5	NP_116027.2:p.(Asn383LysfsTer4)	NC_000003.11:g.128200156del	(Likely) pathogenic	1 lab	98dbba664d
19:21607296 ZNF493 G>A	19	21607296	21607296	G	A	ZNF493	c.1835G>A	NM_001076678.3	NP_001070146.1:p.(Arg612Gln)	NC_000019.9:g.21607296G>A	(Likely) benign	1 lab	98dc33bfd0
1:62350011 PATJ C>T	1	62350011	62350011	C	T	PATJ	c.3062C>T	NM_001350145.3	NP_001337074.2:p.(Ala1021Val)	NC_000001.10:g.62350011C>T	VUS	1 lab	98dcd15457
12:6688050 CHD4 G>A	12	6688050	6688050	G	A	CHD4	c.4943C>T	NM_001273.5	NP_001264.2:p.(Ser1648Leu)	NC_000012.11:g.6688050G>A	(Likely) benign	1 lab	98e0da5acf
18:28913600 DSG1 G>A	18	28913600	28913600	G	A	DSG1	c.733G>A	NM_001942.4	NP_001933.2:p.(Gly245Arg)	NC_000018.9:g.28913600G>A	VUS	1 lab	98e0f486ee
X:69712031 DLG3 T>C	X	69712031	69712031	T	C	DLG3	c.1595T>C	NM_021120.4	NP_066943.2:p.(Ile532Thr)	NC_000023.10:g.69712031T>C	VUS	1 lab	98e2e83eae
12:21621469 PYROXD1 G>C	12	21621469	21621469	G	C	PYROXD1	c.1284G>C	NM_024854.5	NP_079130.2:p.(Gln428His)	NC_000012.11:g.21621469G>C	VUS	1 lab	98e37f9772
2:97879183 ANKRD36 AG>A	2	97879183	97879185	AG	A	ANKRD36	c.3498+1del	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97879185del	(Likely) benign	1 lab	98e43a762c
X:99662854 PCDH19 G>C	X	99662854	99662854	G	C	PCDH19	c.742C>G	NM_001184880.2	NP_001171809.1:p.(Pro248Ala)	NC_000023.10:g.99662854G>C	(Likely) benign	1 lab	98e48eaf5e
17:73503769 CASKIN2 T>TG	17	73503769	73503772	T	TG	CASKIN2	c.147-8dup	NM_020753.5	NP_065804.2:p.?	NC_000017.10:g.73503772dup	(Likely) benign	1 lab	98e49c7594
X:73963711 NEXMIF C>G	X	73963711	73963711	C	G	NEXMIF	c.681G>C	NM_001008537.3	NP_001008537.1:p.(Leu227Phe)	NC_000023.10:g.73963711C>G	(Likely) benign	1 lab	98e49ce657
2:219525839 BCS1L C>A	2	219525839	219525839	C	A	BCS1L	c.129C>A	NM_001079866.2	NP_001073335.1:p.(Phe43Leu)	NC_000002.11:g.219525839C>A	VUS	1 lab	98e4cb415c
19:56089955 ZNF579 C>A	19	56089955	56089955	C	A	ZNF579	c.1051G>T	NM_152600.3	NP_689813.2:p.(Gly351Trp)	NC_000019.9:g.56089955C>A	VUS	1 lab	98e515f251
21:34960874 DONSON C>T	21	34960874	34960874	C	T	DONSON	c.74G>A	NM_017613.4	NP_060083.1:p.(Arg25Lys)	NC_000021.8:g.34960874C>T	(Likely) benign	1 lab	98e55c5306
22:19165658 SLC25A1 A>C	22	19165658	19165658	A	C	SLC25A1	c.190T>G	NM_005984.5	NP_005975.1:p.(Tyr64Asp)	NC_000022.10:g.19165658A>C	VUS	1 lab	98e682476b
7:128494047 FLNC G>A	7	128494047	128494047	G	A	FLNC	c.6504G>A	NM_001458.5	NP_001449.3:p.(Val2168=)	NC_000007.13:g.128494047G>A	(Likely) benign	1 lab	98e7466653
5:141037951 ARAP3 A>C	5	141037951	141037951	A	C	ARAP3	c.3507T>G	NM_022481.6	NP_071926.4:p.(Ile1169Met)	NC_000005.9:g.141037951A>C	(Likely) benign	1 lab	98e80036b7
2:186660476 FSIP2 A>G	2	186660476	186660476	A	G	FSIP2	c.8613A>G	NM_173651.4	NP_775922.3:p.(Ile2871Met)	NC_000002.11:g.186660476A>G	VUS	1 lab	98e93cfdfd
2:170494029 PPIG GATGA>G	2	170494029	170494033	GATGA	G	PPIG	c.2262_2265del	NM_004792.3	NP_004783.2:p.(Gly754GlyfsTer?)	NC_000002.11:g.170494030_170494033del	VUS	1 lab	98e9fd3edf
15:48757777 FBN1 G>A	15	48757777	48757777	G	A	FBN1	c.4930C>T	NM_000138.5	NP_000129.3:p.(Arg1644Ter)	NC_000015.9:g.48757777G>A	VUS	1 lab	98eadacfa1
6:99374515 FBXL4 G>A	6	99374515	99374515	G	A	FBXL4	c.350C>T	NM_001278716.2	NP_001265645.1:p.(Thr117Met)	NC_000006.11:g.99374515G>A	VUS	1 lab	98eb7d75d8
16:1524860 CLCN7 C>A	16	1524860	1524860	C	A	CLCN7	c.116G>T	NM_001287.6	NP_001278.1:p.(Gly39Val)	NC_000016.9:g.1524860C>A	VUS	1 lab	98eb98b256
4:114582893 CAMK2D G>A	4	114582893	114582893	G	A	CAMK2D	c.196C>T	NM_001321571.2	NP_001308500.1:p.(Arg66Cys)	NC_000004.11:g.114582893G>A	VUS	1 lab	98edcec3a0
2:158626951 ACVR1 C>G	2	158626951	158626951	C	G	ACVR1	c.719G>C	NM_001111067.4	NP_001104537.1:p.(Arg240Pro)	NC_000002.11:g.158626951C>G	VUS	1 lab	98ee157afb
7:75689766 MDH2 G>A	7	75689766	75689766	G	A	MDH2	c.505G>A	NM_005918.4	NP_005909.2:p.(Val169Met)	NC_000007.13:g.75689766G>A	VUS	1 lab	98efc2ce2b
X:66909423 AR C>T	X	66909423	66909423	C	T	AR	c.1885+3455C>T	NM_000044.6	NP_000035.2:p.?	NC_000023.10:g.66909423C>T	(Likely) benign	1 lab	98f0020104
9:132632117 USP20 T>G	9	132632117	132632117	T	G	USP20	c.1559T>G	NM_001110303.4	NP_001103773.2:p.(Ile520Ser)	NC_000009.11:g.132632117T>G	(Likely) benign	1 lab	98f1275e70
7:100244447 ACTL6B G>T	7	100244447	100244447	G	T	ACTL6B	c.944C>A	NM_016188.5	NP_057272.1:p.(Ser315Ter)	NC_000007.13:g.100244447G>T	(Likely) pathogenic	1 lab	269c34bde4
4:73963872 ANKRD17 C>A	4	73963872	73963872	C	A	ANKRD17	c.4939G>T	NM_032217.5	NP_115593.3:p.(Val1647Leu)	NC_000004.11:g.73963872C>A	VUS	1 lab	98f383884a
19:13370472 CACNA1A C>T	19	13370472	13370472	C	T	CACNA1A	c.4294G>A	NM_001127222.2	NP_001120694.1:p.(Asp1432Asn)	NC_000019.9:g.13370472C>T	(Likely) benign	1 lab	98f47c710d
1:240256320 FMN2 C>A	1	240256320	240256320	C	A	FMN2	c.911C>A	NM_020066.5	NP_064450.3:p.(Ala304Glu)	NC_000001.10:g.240256320C>A	(Likely) benign	1 lab	98f5c644e4
1:1168012 B3GALT6 C>CCTG	1	1168012	1168025	C	CCTG	B3GALT6	c.365_367dup	NM_080605.4	NP_542172.2:p.(Leu122dup)	NC_000001.10:g.1168023_1168025dup	VUS	1 lab	98f5db5583
17:44248848 KANSL1 G>A	17	44248848	44248848	G	A	KANSL1	c.662C>T	NM_001193466.2	NP_001180395.1:p.(Thr221Ile)	NC_000017.10:g.44248848G>A	(Likely) benign	1 lab	269f03fd3e
14:50750645 L2HGDH T>C	14	50750645	50750645	T	C	L2HGDH	c.647A>G	NM_024884.3	NP_079160.1:p.(Asn216Ser)	NC_000014.8:g.50750645T>C	VUS	1 lab	98f798d3ea
3:47040237 NBEAL2 C>T	3	47040237	47040237	C	T	NBEAL2	c.3252C>T	NM_015175.2	NP_055990.1:p.(Asp1084=)	NC_000003.11:g.47040237C>T	(Likely) benign	1 lab	2842bac1b7
4:39245910 WDR19 A>G	4	39245910	39245910	A	G	WDR19	c.2464A>G	NM_025132.4	NP_079408.3:p.(Ile822Val)	NC_000004.11:g.39245910A>G	VUS	1 lab	98f861335c
22:40666160 TNRC6B T>G	22	40666160	40666160	T	G	TNRC6B	c.2841T>G	NM_001162501.2	NP_001155973.1:p.(Asn947Lys)	NC_000022.10:g.40666160T>G	VUS	1 lab	98f8b4be27
4:184605846 TRAPPC11 G>A	4	184605846	184605846	G	A	TRAPPC11	c.1422-3G>A	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184605846G>A	(Likely) benign	1 lab	98f8ebe420
12:65152856 GNS A>C	12	65152856	65152856	A	C	GNS	c.192+9T>G	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65152856A>C	(Likely) benign	1 lab	98fa036b2c
19:18898403 COMP C>T	19	18898403	18898403	C	T	COMP	c.1032G>A	NM_000095.3	NP_000086.2:p.(Trp344Ter)	NC_000019.9:g.18898403C>T	VUS	1 lab	9913a31d13
10:124392829 DMBT1 C>T	10	124392829	124392829	C	T	DMBT1	c.6520C>T	NM_001377530.1	NP_001364459.1:p.(Arg2174Cys)	NC_000010.10:g.124392829C>T	(Likely) benign	1 lab	98fc7a4660
7:103202405 RELN CCA>C	7	103202405	103202407	CCA	C	RELN	c.5211-7_5211-6del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202406_103202407del	(Likely) benign	1 lab	98fdc2d781
14:79175879 NRXN3 A>C	14	79175879	79175879	A	C	NRXN3	c.1541A>C	NM_001330195.2	NP_001317124.1:p.(Asp514Ala)	NC_000014.8:g.79175879A>C	(Likely) benign	1 lab	98fdee752e
1:39749186 MACF1 C>T	1	39749186	39749186	C	T	MACF1	c.914C>T	NM_001394062.1	NP_001380991.1:p.(Thr305Met)	NC_000001.10:g.39749186C>T	(Likely) benign	1 lab	98ff5275d9
2:44586795 PREPL T>G	2	44586795	44586795	T	G	PREPL	c.-49+1724A>C	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44586795T>G	(Likely) benign	1 lab	98ff73677e
3:157823677 SHOX2 G>C	3	157823677	157823677	G	C	SHOX2	c.137C>G	NM_001163678.2	NP_001157150.1:p.(Ala46Gly)	NC_000003.11:g.157823677G>C	(Likely) benign	1 lab	990059642a
2:166806139 TTC21B G>C	2	166806139	166806139	G	C	TTC21B	c.117C>G	NM_024753.5	NP_079029.3:p.(Phe39Leu)	NC_000002.11:g.166806139G>C	(Likely) benign	1 lab	99006f7dc3
8:41798767 KAT6A G>A	8	41798767	41798767	G	A	KAT6A	c.2632C>T	NM_006766.5	NP_006757.2:p.(Arg878Cys)	NC_000008.10:g.41798767G>A	(Likely) benign	1 lab	990103bdf6
3:12458519 PPARG A>G	3	12458519	12458519	A	G	PPARG	c.1046A>G	NM_138711.6	NP_619725.3:p.(Glu349Gly)	NC_000003.11:g.12458519A>G	VUS	1 lab	990285fd7b
17:78011930 CCDC40 C>T	17	78011930	78011930	C	T	CCDC40	c.38C>T	NM_017950.4	NP_060420.2:p.(Pro13Leu)	NC_000017.10:g.78011930C>T	VUS	1 lab	99043bc0a6
6:30997638 MUC22 CACCCTCCAG>C	6	30997638	30997647	CACCCTCCAG	C	MUC22	c.4431_4439del	NM_001395414.1	NP_001382343.1:p.(Pro1478_Ser1480del)	NC_000006.11:g.30997639_30997647del	(Likely) benign	1 lab	990502751b
15:28948062 GOLGA8M G>C	15	28948062	28948062	G	C	GOLGA8M	c.1369-171C>G	NM_001282468.3	NP_001269397.1:p.?	NC_000015.9:g.28948062G>C	(Likely) benign	1 lab	9905243ebf
9:130605373 ENG C>T	9	130605373	130605373	C	T	ENG	c.219G>A	NM_001114753.3	NP_001108225.1:p.(Thr73=)	NC_000009.11:g.130605373C>T	(Likely) pathogenic	1 lab	9905ccaa27
15:90176918 KIF7 T>C	15	90176918	90176918	T	C	KIF7	c.2591A>G	NM_198525.3	NP_940927.2:p.(Lys864Arg)	NC_000015.9:g.90176918T>C	VUS	1 lab	9905ed40db
4:5749917 EVC C>T	4	5749917	5749917	C	T	EVC	c.982C>T	NM_153717.3	NP_714928.1:p.(Leu328Phe)	NC_000004.11:g.5749917C>T	(Likely) benign	1 lab	99080ecebd
2:182542742 NEUROD1 G>T	2	182542742	182542742	G	T	NEUROD1	c.846C>A	NM_002500.5	NP_002491.3:p.(Asn282Lys)	NC_000002.11:g.182542742G>T	VUS	1 lab	9909625fb4
4:114177035 ANK2 C>T	4	114177035	114177035	C	T	ANK2	c.1135C>T	NM_001148.4	NP_001139.3:p.(Arg379Cys)	NC_000004.11:g.114177035C>T	(Likely) benign	1 lab	2843f9da1d
5:176941754 DDX41 C>T	5	176941754	176941754	C	T	DDX41	c.883G>A	NM_016222.4	NP_057306.2:p.(Ala295Thr)	NC_000005.9:g.176941754C>T	(Likely) benign	1 lab	990dd86ed6
10:76764494 KAT6B C>G	10	76764494	76764494	C	G	KAT6B	c.2629+15624C>G	NM_012330.4	NP_036462.2:p.?	NC_000010.10:g.76764494C>G	(Likely) benign	1 lab	990e0afb24
10:32337398 KIF5B C>T	10	32337398	32337398	C	T	KIF5B	c.208G>A	NM_004521.3	NP_004512.1:p.(Val70Ile)	NC_000010.10:g.32337398C>T	VUS	1 lab	990eecd2ca
15:48719917 FBN1 C>T	15	48719917	48719917	C	T	FBN1	c.7051G>A	NM_000138.5	NP_000129.3:p.(Gly2351Ser)	NC_000015.9:g.48719917C>T	VUS	1 lab	990efad0f8
15:43020434 CDAN1 G>A	15	43020434	43020434	G	A	CDAN1	c.2836C>T	NM_138477.4	NP_612486.2:p.(Arg946Trp)	NC_000015.9:g.43020434G>A	(Likely) benign	1 lab	990f0427d7
12:56494991 ERBB3 G>A	12	56494991	56494991	G	A	ERBB3	c.3348G>A	NM_001982.4	NP_001973.2:p.(Arg1116=)	NC_000012.11:g.56494991G>A	(Likely) benign	1 lab	269ff35295
17:7750753 KDM6B G>A	17	7750753	7750753	G	A	KDM6B	c.1240G>A	NM_001348716.2	NP_001335645.1:p.(Glu414Lys)	NC_000017.10:g.7750753G>A	VUS	1 lab	99105a3049
2:220426667 OBSL1 G>A	2	220426667	220426667	G	A	OBSL1	c.2953+457C>T	NM_015311.3	NP_056126.1:p.?	NC_000002.11:g.220426667G>A	(Likely) benign	1 lab	991101e636
19:11170474 SMARCA4 C>T	19	11170474	11170474	C	T	SMARCA4	c.4681C>T	NM_003072.5	NP_003063.2:p.(Arg1561Trp)	NC_000019.9:g.11170474C>T	VUS	1 lab	9911bf4ddc
1:214820130 CENPF A>G	1	214820130	214820130	A	G	CENPF	c.7217A>G	NM_016343.4	NP_057427.3:p.(Glu2406Gly)	NC_000001.10:g.214820130A>G	(Likely) benign	1 lab	99122f09ab
12:101505431 ANO4 G>A	12	101505431	101505431	G	A	ANO4	c.2393G>A	NM_001286615.2	NP_001273544.1:p.(Arg798His)	NC_000012.11:g.101505431G>A	(Likely) benign	1 lab	99134a137c
3:4452611 SUMF1 C>T	3	4452611	4452611	C	T	SUMF1	c.892G>A	NM_182760.4	NP_877437.2:p.(Ala298Thr)	NC_000003.11:g.4452611C>T	VUS	1 lab	9914067b13
17:39254126 KRTAP4-8 C>T	17	39254126	39254126	C	T	KRTAP4-8	c.211G>A	NM_031960.3	NP_114166.1:p.(Val71Met)	NC_000017.10:g.39254126C>T	(Likely) benign	1 lab	9916dc2f1c
6:107956519 SOBP C>G	6	107956519	107956519	C	G	SOBP	c.2471C>G	NM_018013.4	NP_060483.3:p.(Thr824Ser)	NC_000006.11:g.107956519C>G	VUS	1 lab	9918e964d9
6:118803091 CEP85L C>G	6	118803091	118803091	C	G	CEP85L	c.1596G>C	NM_001042475.3	NP_001035940.1:p.(Gln532His)	NC_000006.11:g.118803091C>G	(Likely) benign	1 lab	9919181bed
10:75038067 CFAP70 G>A	10	75038067	75038067	G	A	CFAP70	c.2478C>T	NM_001367801.1	NP_001354730.1:p.(Asp826=)	NC_000010.10:g.75038067G>A	VUS	1 lab	99195e657b
11:5529995 UBQLN3 A>G	11	5529995	5529995	A	G	UBQLN3	c.794T>C	NM_017481.4	NP_059509.1:p.(Met265Thr)	NC_000011.9:g.5529995A>G	(Likely) benign	1 lab	9919a9d514
8:145001802 PLEC G>A	8	145001802	145001802	G	A	PLEC	c.3532C>T	NM_201384.3	NP_958786.1:p.(Arg1178Trp)	NC_000008.10:g.145001802G>A	VUS	1 lab	991a715d94
17:42991392 GFAP T>A	17	42991392	42991392	T	A	GFAP	c.522+4A>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991392T>A	VUS	1 lab	991aa0a524
16:67682395 CARMIL2 G>A	16	67682395	67682395	G	A	CARMIL2	c.1429G>A	NM_001013838.3	NP_001013860.1:p.(Asp477Asn)	NC_000016.9:g.67682395G>A	(Likely) benign	1 lab	991bcaa17a
19:56424517 NLRP13 A>T	19	56424517	56424517	A	T	NLRP13	c.666T>A	NM_176810.2	NP_789780.2:p.(Asn222Lys)	NC_000019.9:g.56424517A>T	(Likely) benign	1 lab	991c3059a8
22:29521314 KREMEN1 G>A	22	29521314	29521314	G	A	KREMEN1	c.541G>A	NM_001039570.3	NP_001034659.2:p.(Gly181Arg)	NC_000022.10:g.29521314G>A	VUS	1 lab	991c6eb9e6
7:151949671 KMT2C C>G	7	151949671	151949671	C	G	KMT2C	c.1429G>C	NM_170606.3	NP_733751.2:p.(Glu477Gln)	NC_000007.13:g.151949671C>G	(Likely) benign	1 lab	991cab18fd
1:11199475 MTOR A>G	1	11199475	11199475	A	G	MTOR	c.5016T>C	NM_004958.4	NP_004949.1:p.(Thr1672=)	NC_000001.10:g.11199475A>G	(Likely) benign	1 lab	991ef8e9ae
X:14913497 MOSPD2 C>G	X	14913497	14913497	C	G	MOSPD2	c.303C>G	NM_152581.4	NP_689794.1:p.(Asp101Glu)	NC_000023.10:g.14913497C>G	VUS	1 lab	9920738eea
6:157100004 ARID1B G>C	6	157100004	157100004	G	C	ARID1B	c.1190G>C	NM_001374828.1	NP_001361757.1:p.(Gly397Ala)	NC_000006.11:g.157100004G>C	(Likely) benign	1 lab	99210d5c0f
16:84228067 ADAD2 G>A	16	84228067	84228067	G	A	ADAD2	c.438G>A	NM_001145400.2	NP_001138872.1:p.(Ser146=)	NC_000016.9:g.84228067G>A	VUS	1 lab	99214a6ee8
1:176563980 PAPPA2 G>C	1	176563980	176563980	G	C	PAPPA2	c.1240G>C	NM_020318.3	NP_064714.2:p.(Glu414Gln)	NC_000001.10:g.176563980G>C	(Likely) benign	1 lab	9921683d32
4:3188411 HTT C>T	4	3188411	3188411	C	T	HTT	c.4954C>T	NM_001388492.1	NP_001375421.1:p.(Leu1652Phe)	NC_000004.11:g.3188411C>T	VUS	1 lab	9921b26817
12:58145379 CDK4 T>C	12	58145379	58145379	T	C	CDK4	c.122A>G	NM_000075.4	NP_000066.1:p.(Asn41Ser)	NC_000012.11:g.58145379T>C	VUS	1 lab	99228fbda0
X:8434317 VCX3B GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA>G	X	8434317	8434376	GAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAA	G	VCX3B	c.635_693del	NM_001001888.4	NP_001001888.3:p.(Glu212GlyfsTer?)	NC_000023.10:g.8434318_8434376del	VUS	1 lab	9925d3f866
2:234891850 TRPM8 G>A	2	234891850	234891850	G	A	TRPM8	c.2743G>A	NM_024080.5	NP_076985.4:p.(Val915Met)	NC_000002.11:g.234891850G>A	(Likely) benign	1 lab	9927a500cb
11:1277978 MUC5B T>A	11	1277978	1277978	T	A	MUC5B	c.16214T>A	NM_002458.3	NP_002449.2:p.(Met5405Lys)	NC_000011.9:g.1277978T>A	(Likely) benign	1 lab	992bb9cb3e
19:50285809 AP2A1 C>T	19	50285809	50285809	C	T	AP2A1	c.301C>T	NM_130787.3	NP_570603.2:p.(Leu101=)	NC_000019.9:g.50285809C>T	(Likely) benign	1 lab	992c386d79
11:17418777 ABCC8 G>C	11	17418777	17418777	G	C	ABCC8	c.3951C>G	NM_000352.6	NP_000343.2:p.(Leu1317=)	NC_000011.9:g.17418777G>C	(Likely) benign	1 lab	992cbc1602
8:11407791 BLK C>T	8	11407791	11407791	C	T	BLK	c.472+20C>T	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11407791C>T	(Likely) benign	1 lab	992cf93488
8:67705844 SGK3 G>T	8	67705844	67705844	G	T	SGK3	c.-121-7G>T	NM_001033578.3	NP_001028750.1:p.?	NC_000008.10:g.67705844G>T	(Likely) benign	1 lab	992d3c5b26
X:47065399 UBA1 T>C	X	47065399	47065399	T	C	UBA1	c.1628T>C	NM_003334.4	NP_003325.2:p.(Ile543Thr)	NC_000023.10:g.47065399T>C	VUS	1 lab	99317f2291
7:107542265 DLD A>G	7	107542265	107542265	A	G	DLD	c.198+3A>G	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107542265A>G	VUS	1 lab	9931ca4518
3:24231711 THRB C>T	3	24231711	24231711	C	T	THRB	c.137G>A	NM_001354712.2	NP_001341641.1:p.(Arg46His)	NC_000003.11:g.24231711C>T	(Likely) benign	1 lab	9932789ace
7:76069660 ZP3 TGAG>T	7	76069660	76069668	TGAG	T	ZP3	c.923+8_923+10del	NM_001110354.2	NP_001103824.1:p.?	NC_000007.13:g.76069666_76069668del	VUS	1 lab	993307ec8f
15:48779639 FBN1 A>G	15	48779639	48779639	A	G	FBN1	c.3338-5T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779639A>G	(Likely) benign	1 lab	993312115f
19:47260078 FKRP C>G	19	47260078	47260078	C	G	FKRP	c.1371C>G	NM_024301.5	NP_077277.1:p.(Phe457Leu)	NC_000019.9:g.47260078C>G	VUS	1 lab	99331af5eb
16:31409167 ITGAD G>A	16	31409167	31409167	G	A	ITGAD	c.364G>A	NM_005353.3	NP_005344.2:p.(Gly122Ser)	NC_000016.9:g.31409167G>A	VUS	1 lab	99351be7aa
15:89402446 ACAN C>T	15	89402446	89402446	C	T	ACAN	c.6630C>T	NM_001369268.1	NP_001356197.1:p.(Gly2210=)	NC_000015.9:g.89402446C>T	(Likely) benign	1 lab	993527693b
1:909276 PLEKHN1 G>C	1	909276	909276	G	C	PLEKHN1	c.1498G>C	NM_032129.3	NP_115505.2:p.(Val500Leu)	NC_000001.10:g.909276G>C	VUS	1 lab	99362580cb
2:207007472 NDUFS1 C>G	2	207007472	207007472	C	G	NDUFS1	c.1071G>C	NM_005006.7	NP_004997.4:p.(Leu357Phe)	NC_000002.11:g.207007472C>G	VUS	1 lab	9938e72843
12:53453468 TNS2 C>T	12	53453468	53453468	C	T	TNS2	c.2073C>T	NM_015319.2	NP_056134.2:p.(Asp691=)	NC_000012.11:g.53453468C>T	(Likely) benign	1 lab	2846e4aa1e
8:10465990 RP1L1 T>C	8	10465990	10465990	T	C	RP1L1	c.5618A>G	NM_178857.6	NP_849188.4:p.(Asp1873Gly)	NC_000008.10:g.10465990T>C	(Likely) benign	1 lab	993a144ee9
11:66108808 BRMS1 C>A	11	66108808	66108808	C	A	BRMS1	c.231-4G>T	NM_015399.4	NP_056214.1:p.?	NC_000011.9:g.66108808C>A	(Likely) benign	1 lab	993a1a4c52
9:119976958 ASTN2 G>A	9	119976958	119976958	G	A	ASTN2	c.694C>T	NM_001365068.1	NP_001351997.1:p.(Arg232Cys)	NC_000009.11:g.119976958G>A	VUS	1 lab	993b47ba5d
3:41756933 ULK4 T>C	3	41756933	41756933	T	C	ULK4	c.2577+6A>G	NM_017886.4	NP_060356.2:p.?	NC_000003.11:g.41756933T>C	(Likely) benign	1 lab	993bafb828
10:135106102 TUBGCP2 G>A	10	135106102	135106102	G	A	TUBGCP2	c.1115C>T	NM_006659.4	NP_006650.1:p.(Ala372Val)	NC_000010.10:g.135106102G>A	VUS	1 lab	993bcfcd22
9:139327714 INPP5E C>A	9	139327714	139327714	C	A	INPP5E	c.1052G>T	NM_019892.6	NP_063945.2:p.(Arg351Leu)	NC_000009.11:g.139327714C>A	VUS	1 lab	993d88b538
16:29676238 SPN G>A	16	29676238	29676238	G	A	SPN	c.1189G>A	NM_003123.6	NP_003114.1:p.(Gly397Arg)	NC_000016.9:g.29676238G>A	VUS	1 lab	993f5fa587
7:151876989 KMT2C A>G	7	151876989	151876989	A	G	KMT2C	c.7372T>C	NM_170606.3	NP_733751.2:p.(Phe2458Leu)	NC_000007.13:g.151876989A>G	(Likely) benign	1 lab	993f662617
16:15818494 MYH11 G>C	16	15818494	15818494	G	C	MYH11	c.4137+10C>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818494G>C	(Likely) benign	1 lab	28471454cd
20:42984446 HNF4A T>C	20	42984446	42984446	T	C	HNF4A	c.2T>C	NM_175914.5	NP_787110.2:p.(Met1?)	NC_000020.10:g.42984446T>C	(Likely) pathogenic	1 lab	9940c8478b
7:127978385 RBM28 G>A	7	127978385	127978385	G	A	RBM28	c.460C>T	NM_018077.3	NP_060547.2:p.(Arg154Cys)	NC_000007.13:g.127978385G>A	VUS	1 lab	99429488b6
X:153587394 FLNA C>A	X	153587394	153587394	C	A	FLNA	c.4432G>T	NM_001110556.2	NP_001104026.1:p.(Ala1478Ser)	NC_000023.10:g.153587394C>A	VUS	1 lab	9942c726db
1:39790322 MACF1 T>G	1	39790322	39790322	T	G	MACF1	c.4394T>G	NM_001394062.1	NP_001380991.1:p.(Leu1465Arg)	NC_000001.10:g.39790322T>G	VUS	1 lab	99431ac804
7:25264778 NPVF T>TC	7	25264778	25264779	T	TC	NPVF	c.553_554insG	NM_022150.3	NP_071433.3:p.(Lys185ArgfsTer5)	NC_000007.13:g.25264778_25264779insC	VUS	1 lab	994390b0fd
X:31418540 DMD T>C	X	31418540	31418540	T	C	DMD	c.9084+44058A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31418540T>C	(Likely) benign	1 lab	99465f173a
15:89816700 FANCI G>C	15	89816700	89816700	G	C	FANCI	c.975G>C	NM_001113378.2	NP_001106849.1:p.(Gln325His)	NC_000015.9:g.89816700G>C	VUS	1 lab	99476388fc
17:10534939 MYH3 CCTT>C	17	10534939	10534945	CCTT	C	MYH3	c.5272_5274del	NM_002470.4	NP_002461.2:p.(Lys1758del)	NC_000017.10:g.10534943_10534945del	VUS	1 lab	9947667432
2:128459165 WDR33 GGCCGCGGAGCCGCTGCTC>G	2	128459165	128459192	GGCCGCGGAGCCGCTGCTC	G	WDR33	c.*4714_*4731del	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128459175_128459192del	VUS	1 lab	9948ac08fb
12:58024278 B4GALNT1 C>G	12	58024278	58024278	C	G	B4GALNT1	c.514G>C	NM_001478.5	NP_001469.1:p.(Gly172Arg)	NC_000012.11:g.58024278C>G	(Likely) benign	1 lab	994a6e1c9e
12:24048803 SOX5 T>C	12	24048803	24048803	T	C	SOX5	c.194A>G	NM_006940.6	NP_008871.3:p.(Glu65Gly)	NC_000012.11:g.24048803T>C	VUS	1 lab	994acaa56e
3:142231162 ATR C>A	3	142231162	142231162	C	A	ATR	c.4792G>T	NM_001184.4	NP_001175.2:p.(Ala1598Ser)	NC_000003.11:g.142231162C>A	(Likely) benign	1 lab	994b40d68c
6:32548053 HLA-DRB1 A>G	6	32548053	32548053	A	G	HLA-DRB1	c.764-6T>C	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32548053A>G	(Likely) benign	1 lab	994c3d6cf8
16:68358684 PRMT7 C>CT	16	68358684	68358686	C	CT	PRMT7	c.233dup	NM_019023.5	NP_061896.1:p.(Leu78PhefsTer24)	NC_000016.9:g.68358686dup	VUS	1 lab	994c4e10a6
X:15333607 ASB11 C>T	X	15333607	15333607	C	T	ASB11	c.121G>A	NM_080873.3	NP_543149.1:p.(Val41Ile)	NC_000023.10:g.15333607C>T	(Likely) benign	1 lab	994cbb638e
14:31583195 HECTD1 G>C	14	31583195	31583195	G	C	HECTD1	c.5744C>G	NM_015382.4	NP_056197.3:p.(Thr1915Ser)	NC_000014.8:g.31583195G>C	VUS	1 lab	994f6860b1
15:35230935 AQR T>TAGTC	15	35230935	35230937	T	TAGTC	AQR	c.718+2_718+3insGACT	NM_014691.3	NP_055506.1:p.?	NC_000015.9:g.35230936_35230937insGTCA	VUS	1 lab	99505ccd06
8:144997633 PLEC G>A	8	144997633	144997633	G	A	PLEC	c.6464C>T	NM_201384.3	NP_958786.1:p.(Ala2155Val)	NC_000008.10:g.144997633G>A	VUS	1 lab	9951d6a222
12:49420825 KMT2D C>T	12	49420825	49420825	C	T	KMT2D	c.14924G>A	NM_003482.4	NP_003473.3:p.(Arg4975His)	NC_000012.11:g.49420825C>T	(Likely) benign	1 lab	99529f00f0
5:82836042 VCAN G>A	5	82836042	82836042	G	A	VCAN	c.7220G>A	NM_004385.5	NP_004376.2:p.(Gly2407Asp)	NC_000005.9:g.82836042G>A	(Likely) benign	1 lab	9952b651a2
X:153605061 FLNA A>G	X	153605061	153605061	A	G	FLNA				NC_000023.10:g.153605061A>G	(Likely) benign	1 lab	9957cf88e2
11:64480727 NRXN2 C>T	11	64480727	64480727	C	T	NRXN2	c.445G>A	NM_015080.4	NP_055895.1:p.(Asp149Asn)	NC_000011.9:g.64480727C>T	VUS	1 lab	995ccb5122
2:179616503 TTN G>A	2	179616503	179616503	G	A	TTN	c.11311+1348C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616503G>A	VUS	1 lab	995df8fb77
14:58949224 KIAA0586 C>T	14	58949224	58949224	C	T	KIAA0586	c.2945-7C>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.58949224C>T	(Likely) benign	1 lab	995e434e3d
11:76909585 MYO7A C>T	11	76909585	76909585	C	T	MYO7A	c.4487C>T	NM_000260.4	NP_000251.3:p.(Thr1496Met)	NC_000011.9:g.76909585C>T	VUS	1 lab	99600a0462
7:44193049 GCK A>G	7	44193049	44193049	A	G	GCK	c.59T>C	NM_000162.5	NP_000153.1:p.(Leu20Pro)	NC_000007.13:g.44193049A>G	(Likely) pathogenic	1 lab	99618ec822
11:64387756 NRXN2 A>G	11	64387756	64387756	A	G	NRXN2	c.4252+10T>C	NM_015080.4	NP_055895.1:p.?	NC_000011.9:g.64387756A>G	(Likely) benign	1 lab	9961d91280
11:10800555 CTR9 G>C	11	10800555	10800555	G	C	CTR9	c.3425G>C	NM_014633.5	NP_055448.1:p.(Gly1142Ala)	NC_000011.9:g.10800555G>C	VUS	1 lab	996234bb4e
12:56713245 PAN2 C>T	12	56713245	56713245	C	T	PAN2	c.3117G>A	NM_014871.6	NP_055686.4:p.(Ser1039=)	NC_000012.11:g.56713245C>T	VUS	1 lab	9963d5a154
X:153689073 PLXNA3 C>T	X	153689073	153689073	C	T	PLXNA3	c.550C>T	NM_017514.5	NP_059984.3:p.(Arg184Cys)	NC_000023.10:g.153689073C>T	VUS	1 lab	9964133aee
5:80021327 MSH3 A>G	5	80021327	80021327	A	G	MSH3	c.1396A>G	NM_002439.5	NP_002430.3:p.(Ser466Gly)	NC_000005.9:g.80021327A>G	VUS	1 lab	9966f26a01
4:109805344 COL25A1 G>A	4	109805344	109805344	G	A	COL25A1	c.1010C>T	NM_198721.4	NP_942014.1:p.(Pro337Leu)	NC_000004.11:g.109805344G>A	VUS	1 lab	9969378b42
1:15653595 FHAD1 G>A	1	15653595	15653595	G	A	FHAD1	c.1514G>A	NM_001391957.1	NP_001378886.1:p.(Gly505Glu)	NC_000001.10:g.15653595G>A	VUS	1 lab	99697f2050
20:50346470 ATP9A C>T	20	50346470	50346470	C	T	ATP9A	c.116G>A	NM_006045.3	NP_006036.1:p.(Arg39His)	NC_000020.10:g.50346470C>T	VUS	1 lab	99697f372e
14:93398849 CHGA G>A	14	93398849	93398849	G	A	CHGA	c.943G>A	NM_001275.4	NP_001266.1:p.(Gly315Ser)	NC_000014.8:g.93398849G>A	(Likely) benign	1 lab	996a691b4a
17:7398056 POLR2A T>C	17	7398056	7398056	T	C	POLR2A	c.94-1204T>C	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7398056T>C	(Likely) benign	1 lab	996b072c9c
19:46027875 VASP C>T	19	46027875	46027875	C	T	VASP	c.1004C>T	NM_003370.4	NP_003361.1:p.(Thr335Met)	NC_000019.9:g.46027875C>T	(Likely) benign	1 lab	996c054b87
4:108969836 LEF1 C>T	4	108969836	108969836	C	T	LEF1	c.*78G>A	NM_016269.5	NP_057353.1:p.?	NC_000004.11:g.108969836C>T	(Likely) benign	1 lab	996db385c5
16:2158728 PKD1 C>T	16	2158728	2158728	C	T	PKD1	c.6440G>A	NM_001009944.3	NP_001009944.3:p.(Arg2147Gln)	NC_000016.9:g.2158728C>T	(Likely) benign	1 lab	996dc51d20
19:50340143 MED25 C>T	19	50340143	50340143	C	T	MED25	c.2186C>T	NM_030973.4	NP_112235.2:p.(Pro729Leu)	NC_000019.9:g.50340143C>T	VUS	1 lab	996e00a1ee
5:66391510 MAST4 G>A	5	66391510	66391510	G	A	MAST4	c.912+7G>A	NM_001164664.2	NP_001158136.1:p.?	NC_000005.9:g.66391510G>A	(Likely) benign	1 lab	996e0ab1d3
12:10998556 PRR4 C>CA	12	10998556	10998567	C	CA	PRR4	c.*19-8dup	NM_007244.3	NP_009175.2:p.?	NC_000012.11:g.10998567dup	(Likely) benign	1 lab	996e0dd7fa
1:231386720 GNPAT A>G	1	231386720	231386720	A	G	GNPAT	c.92A>G	NM_014236.4	NP_055051.1:p.(Lys31Arg)	NC_000001.10:g.231386720A>G	VUS	1 lab	996fcef5e7
3:57199259 IL17RD T>C	3	57199259	57199259	T	C	IL17RD	c.56A>G	NM_017563.5	NP_060033.3:p.(Asn19Ser)	NC_000003.11:g.57199259T>C	VUS	1 lab	9971b46f17
1:22205079 HSPG2 C>T	1	22205079	22205079	C	T	HSPG2	c.2549G>A	NM_005529.7	NP_005520.4:p.(Arg850His)	NC_000001.10:g.22205079C>T	(Likely) benign	1 lab	9972805e47
22:22123356 MAPK1 T>A	22	22123356	22123356	T	A	MAPK1	c.*9+128A>T	NM_002745.5	NP_002736.3:p.?	NC_000022.10:g.22123356T>A	(Likely) benign	1 lab	9974305926
1:39927611 MACF1 G>A	1	39927611	39927611	G	A	MACF1	c.21580G>A	NM_001394062.1	NP_001380991.1:p.(Gly7194Arg)	NC_000001.10:g.39927611G>A	VUS	1 lab	99753db7d0
16:28909414 ATP2A1 C>T	16	28909414	28909414	C	T	ATP2A1	c.1513C>T	NM_004320.6	NP_004311.1:p.(Arg505Trp)	NC_000016.9:g.28909414C>T	VUS	1 lab	99755537e7
4:77677646 SHROOM3 T>A	4	77677646	77677646	T	A	SHROOM3	c.4754T>A	NM_020859.4	NP_065910.3:p.(Met1585Lys)	NC_000004.11:g.77677646T>A	(Likely) benign	1 lab	99756ce9af
11:67925973 KMT5B ACTT>A	11	67925973	67925979	ACTT	A	KMT5B	c.1837_1839del	NM_017635.5	NP_060105.3:p.(Lys613del)	NC_000011.9:g.67925977_67925979del	(Likely) benign	1 lab	9977425af9
16:71805159 AP1G1 TG>T	16	71805159	71805160	TG	T	AP1G1	c.469-5del	NM_001128.6	NP_001119.3:p.?	NC_000016.9:g.71805160del	(Likely) benign	1 lab	997a7f8c87
3:43122515 POMGNT2 C>A	3	43122515	43122515	C	A	POMGNT2	c.409G>T	NM_032806.6	NP_116195.2:p.(Ala137Ser)	NC_000003.11:g.43122515C>A	VUS	1 lab	997ab5442d
5:140866769 PCDHGC3 C>T	5	140866769	140866769	C	T	PCDHGC3	c.2431-7605C>T	NM_002588.4	NP_002579.2:p.?	NC_000005.9:g.140866769C>T	(Likely) pathogenic	1 lab	997b2ae89f
7:26404763 SNX10 A>G	7	26404763	26404763	A	G	SNX10	c.309A>G	NM_013322.3	NP_037454.2:p.(Arg103=)	NC_000007.13:g.26404763A>G	(Likely) benign	1 lab	997b9260d3
X:70145757 SLC7A3 C>G	X	70145757	70145757	C	G	SLC7A3	c.1766G>C	NM_032803.6	NP_116192.4:p.(Ser589Thr)	NC_000023.10:g.70145757C>G	(Likely) benign	1 lab	997da3caf4
8:41791770 KAT6A T>C	8	41791770	41791770	T	C	KAT6A	c.3968A>G	NM_006766.5	NP_006757.2:p.(His1323Arg)	NC_000008.10:g.41791770T>C	(Likely) benign	1 lab	997dfc41aa
7:139724604 PARP12 C>T	7	139724604	139724604	C	T	PARP12	c.1862G>A	NM_022750.4	NP_073587.1:p.(Arg621Gln)	NC_000007.13:g.139724604C>T	(Likely) benign	1 lab	997e1005d9
19:10449505 ICAM3 C>G	19	10449505	10449505	C	G	ICAM3	c.196G>C	NM_002162.5	NP_002153.2:p.(Glu66Gln)	NC_000019.9:g.10449505C>G	VUS	1 lab	997e296c19
X:149680887 MAMLD1 C>A	X	149680887	149680887	C	A	MAMLD1	c.*658C>A	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680887C>A	VUS	1 lab	997e3d69f9
14:91772204 CCDC88C C>T	14	91772204	91772204	C	T	CCDC88C	c.3262G>A	NM_001080414.4	NP_001073883.2:p.(Val1088Met)	NC_000014.8:g.91772204C>T	(Likely) benign	1 lab	997e5800ef
16:19680518 VPS35L C>T	16	19680518	19680518	C	T	VPS35L	c.2258C>T	NM_020314.7	NP_064710.5:p.(Pro753Leu)	NC_000016.9:g.19680518C>T	(Likely) benign	1 lab	997e60527e
20:52583450 BCAS1 G>A	20	52583450	52583450	G	A	BCAS1	c.1480C>T	NM_001366298.2	NP_001353227.1:p.(Gln494Ter)	NC_000020.10:g.52583450G>A	VUS	1 lab	997f48c055
11:1857712 SYT8 C>A	11	1857712	1857712	C	A	SYT8	c.574C>A	NM_001394072.1	NP_001381001.1:p.(Arg192Ser)	NC_000011.9:g.1857712C>A	VUS	1 lab	9983f488f1
19:31039490 ZNF536 G>A	19	31039490	31039490	G	A	ZNF536	c.2964G>A	NM_014717.3	NP_055532.1:p.(Pro988=)	NC_000019.9:g.31039490G>A	(Likely) benign	1 lab	99861257f5
20:62200937 HELZ2 G>A	20	62200937	62200937	G	A	HELZ2	c.652C>T	NM_001037335.2	NP_001032412.2:p.(Arg218Trp)	NC_000020.10:g.62200937G>A	(Likely) benign	1 lab	99892ded1e
2:121744162 GLI2 C>G	2	121744162	121744162	C	G	GLI2	c.2214C>G	NM_001374353.1	NP_001361282.1:p.(Asn738Lys)	NC_000002.11:g.121744162C>G	VUS	1 lab	9989e3b485
3:196199348 RNF168 C>A	3	196199348	196199348	C	A	RNF168	c.1058G>T	NM_152617.4	NP_689830.2:p.(Ser353Ile)	NC_000003.11:g.196199348C>A	(Likely) benign	1 lab	9989e7f690
9:140943679 CACNA1B C>G	9	140943679	140943679	C	G	CACNA1B	c.3622C>G	NM_000718.4	NP_000709.1:p.(Leu1208Val)	NC_000009.11:g.140943679C>G	VUS	1 lab	9989fb9161
18:31324298 ASXL3 G>A	18	31324298	31324298	G	A	ASXL3	c.4486G>A	NM_030632.3	NP_085135.1:p.(Ala1496Thr)	NC_000018.9:g.31324298G>A	VUS	1 lab	998af05aa4
9:35805572 NPR2 T>G	9	35805572	35805572	T	G	NPR2	c.1952T>G	NM_003995.4	NP_003986.2:p.(Val651Gly)	NC_000009.11:g.35805572T>G	VUS	1 lab	999b35bd4a
X:100749136 ARMCX4 T>C	X	100749136	100749136	T	C	ARMCX4	c.5560T>C	NM_001256155.3	NP_001243084.2:p.(Trp1854Arg)	NC_000023.10:g.100749136T>C	(Likely) benign	1 lab	998b020914
2:233347167 ECEL1 C>T	2	233347167	233347167	C	T	ECEL1	c.1757G>A	NM_004826.4	NP_004817.2:p.(Gly586Asp)	NC_000002.11:g.233347167C>T	VUS	1 lab	998b0fe1e6
11:17485047 ABCC8 C>T	11	17485047	17485047	C	T	ABCC8	c.517G>A	NM_000352.6	NP_000343.2:p.(Gly173Arg)	NC_000011.9:g.17485047C>T	VUS	1 lab	998c1456e3
5:32058203 PDZD2 A>C	5	32058203	32058203	A	C	PDZD2	c.2194A>C	NM_178140.4	NP_835260.2:p.(Asn732His)	NC_000005.9:g.32058203A>C	(Likely) benign	1 lab	998cf08836
3:183960623 ALG3 G>A	3	183960623	183960623	G	A	ALG3	c.1132C>T	NM_005787.6	NP_005778.1:p.(Arg378Cys)	NC_000003.11:g.183960623G>A	VUS	1 lab	998d650ade
2:219509501 ZNF142 A>G	2	219509501	219509501	A	G	ZNF142	c.2338T>C	NM_001379659.1	NP_001366588.1:p.(Tyr780His)	NC_000002.11:g.219509501A>G	VUS	1 lab	998f60aedd
1:197024896 F13B T>C	1	197024896	197024896	T	C	F13B	c.1303A>G	NM_001994.3	NP_001985.2:p.(Lys435Glu)	NC_000001.10:g.197024896T>C	VUS	1 lab	9991279f06
11:1016818 MUC6 A>G	11	1016818	1016818	A	G	MUC6	c.5983T>C	NM_005961.3	NP_005952.2:p.(Tyr1995His)	NC_000011.9:g.1016818A>G	(Likely) benign	1 lab	9991e4b73e
19:8651082 ADAMTS10 C>A	19	8651082	8651082	C	A	ADAMTS10	c.2584G>T	NM_030957.4	NP_112219.3:p.(Ala862Ser)	NC_000019.9:g.8651082C>A	(Likely) benign	1 lab	99922095cb
5:37182969 CPLANE1 T>C	5	37182969	37182969	T	C	CPLANE1	c.5314A>G	NM_023073.3	NP_075561.3:p.(Ser1772Gly)	NC_000005.9:g.37182969T>C	(Likely) benign	1 lab	284b83ade0
4:104107025 CENPE G>A	4	104107025	104107025	G	A	CENPE	c.694-7C>T	NM_001813.3	NP_001804.2:p.?	NC_000004.11:g.104107025G>A	(Likely) benign	1 lab	99942c6c39
19:12817592 TNPO2 C>A	19	12817592	12817592	C	A	TNPO2	c.1288G>T	NM_001382241.1	NP_001369170.1:p.(Val430Leu)	NC_000019.9:g.12817592C>A	(Likely) benign	1 lab	99960db686
4:1807411 FGFR3 G>A	4	1807411	1807411	G	A	FGFR3	c.1645+15G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807411G>A	(Likely) benign	1 lab	999866c6ef
11:64811763 SAC3D1 G>T	11	64811763	64811763	G	T	SAC3D1	c.641G>T	NM_013299.4	NP_037431.3:p.(Arg214Leu)	NC_000011.9:g.64811763G>T	(Likely) benign	1 lab	9999423fa2
9:139735128 RABL6 G>A	9	139735128	139735128	G	A	RABL6	c.*154G>A	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139735128G>A	(Likely) benign	1 lab	999a3583c2
8:1719500 CLN8 G>A	8	1719500	1719500	G	A	CLN8	c.280G>A	NM_018941.4	NP_061764.2:p.(Asp94Asn)	NC_000008.10:g.1719500G>A	VUS	1 lab	999ad8a64f
1:152283390 FLG G>T	1	152283390	152283390	G	T	FLG	c.3972C>A	NM_002016.2	NP_002007.1:p.(Asp1324Glu)	NC_000001.10:g.152283390G>T	VUS	1 lab	999bbdcc74
15:84651440 ADAMTSL3 CAGCGAAGCCAAT>C	15	84651440	84651454	CAGCGAAGCCAAT	C	ADAMTSL3	c.3063_3074del	NM_207517.3	NP_997400.2:p.(Glu1022_Ser1025del)	NC_000015.9:g.84651443_84651454del	VUS	1 lab	999c6aa0d0
6:42023725 TAF8 C>T	6	42023725	42023725	C	T	TAF8	c.337C>T	NM_138572.3	NP_612639.2:p.(Arg113Trp)	NC_000006.11:g.42023725C>T	VUS	1 lab	999d5e9080
2:220097085 ANKZF1 G>T	2	220097085	220097085	G	T	ANKZF1	c.364+1G>T	NM_018089.3	NP_060559.2:p.?	NC_000002.11:g.220097085G>T	VUS	1 lab	999e0b1ebd
5:37059102 NIPBL TAGATTC>T	5	37059102	37059129	TAGATTC	T	NIPBL	c.7542_7547del	NM_133433.4	NP_597677.2:p.(Asp2514_Ser2515del)	NC_000005.9:g.37059124_37059129del	(Likely) benign	1 lab	99a0f99407
15:42111776 MAPKBP1 T>G	15	42111776	42111776	T	G	MAPKBP1	c.2444-17T>G	NM_001128608.2	NP_001122080.1:p.?	NC_000015.9:g.42111776T>G	(Likely) benign	1 lab	284eccdd49
17:44172063 KANSL1 G>A	17	44172063	44172063	G	A	KANSL1	c.1294C>T	NM_015443.4	NP_056258.1:p.(Arg432Cys)	NC_000017.10:g.44172063G>A	VUS	1 lab	99a1bfadf9
1:5947470 NPHP4 CACG>C	1	5947470	5947475	CACG	C	NPHP4	c.2358_2360del	NM_015102.5	NP_055917.1:p.(Val787del)	NC_000001.10:g.5947473_5947475del	VUS	1 lab	99a2761168
16:2149735 PKD1 G>A	16	2149735	2149735	G	A	PKD1	c.9960C>T	NM_001009944.3	NP_001009944.3:p.(Val3320=)	NC_000016.9:g.2149735G>A	(Likely) benign	1 lab	99a3901eb2
6:143081568 HIVEP2 C>T	6	143081568	143081568	C	T	HIVEP2	c.5857G>A	NM_006734.4	NP_006725.3:p.(Val1953Ile)	NC_000006.11:g.143081568C>T	(Likely) benign	1 lab	99a3bec3ec
17:40690472 NAGLU C>G	17	40690472	40690472	C	G	NAGLU	c.647C>G	NM_000263.4	NP_000254.2:p.(Pro216Arg)	NC_000017.10:g.40690472C>G	(Likely) benign	1 lab	99a58aa871
2:70524444 TIMCC C>G	2	70524444	70524444	C	G	TIMCC	c.715G>C	NM_001329752.2	NP_001316681.1:p.(Ala239Pro)	NC_000002.11:g.70524444C>G	(Likely) benign	1 lab	99a6c40fda
9:15422903 SNAPC3 C>G	9	15422903	15422903	C	G	SNAPC3	c.26C>G	NM_001039697.2	NP_001034786.1:p.(Pro9Arg)	NC_000009.11:g.15422903C>G	(Likely) benign	1 lab	99a7bd79fb
16:683446 WFIKKN1 G>C	16	683446	683446	G	C	WFIKKN1	c.1036G>C	NM_053284.3	NP_444514.1:p.(Ala346Pro)	NC_000016.9:g.683446G>C	VUS	1 lab	99a847ea96
12:51865093 SLC4A8 T>C	12	51865093	51865093	T	C	SLC4A8	c.1681T>C	NM_001039960.3	NP_001035049.1:p.(Ser561Pro)	NC_000012.11:g.51865093T>C	VUS	1 lab	99a86658ef
16:87743121 KLHDC4 C>T	16	87743121	87743121	C	T	KLHDC4	c.1197G>A	NM_017566.4	NP_060036.2:p.(Lys399=)	NC_000016.9:g.87743121C>T	VUS	1 lab	99aa23886b
19:15648394 CYP4F22 G>A	19	15648394	15648394	G	A	CYP4F22	c.470G>A	NM_173483.4	NP_775754.2:p.(Arg157His)	NC_000019.9:g.15648394G>A	VUS	1 lab	99ac60c606
2:152419196 NEB G>A	2	152419196	152419196	G	A	NEB	c.18820C>T	NM_001164508.2	NP_001157980.2:p.(His6274Tyr)	NC_000002.11:g.152419196G>A	VUS	1 lab	99acf4458d
14:105410893 AHNAK2 G>A	14	105410893	105410893	G	A	AHNAK2	c.10895C>T	NM_138420.4	NP_612429.2:p.(Thr3632Ile)	NC_000014.8:g.105410893G>A	VUS	1 lab	99aeb3bb1f
14:31827933 HEATR5A A>T	14	31827933	31827933	A	T	HEATR5A	c.2321T>A	NM_015473.4	NP_056288.2:p.(Val774Glu)	NC_000014.8:g.31827933A>T	VUS	1 lab	99aed3fb6f
20:62493461 ABHD16B T>C	20	62493461	62493461	T	C	ABHD16B	c.568T>C	NM_080622.4	NP_542189.1:p.(Ser190Pro)	NC_000020.10:g.62493461T>C	(Likely) benign	1 lab	99af8fdf7f
5:137727210 KDM3B G>A	5	137727210	137727210	G	A	KDM3B	c.1889G>A	NM_016604.4	NP_057688.3:p.(Arg630Gln)	NC_000005.9:g.137727210G>A	VUS	1 lab	99b02cc290
6:167717457 UNC93A C>T	6	167717457	167717457	C	T	UNC93A	c.676C>T	NM_018974.4	NP_061847.2:p.(Arg226Ter)	NC_000006.11:g.167717457C>T	(Likely) benign	1 lab	99b0d41ea0
7:151979197 KMT2C T>C	7	151979197	151979197	T	C	KMT2C	c.850-8245A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151979197T>C	VUS	1 lab	99b170508d
2:152520078 NEB A>G	2	152520078	152520078	A	G	NEB	c.5747T>C	NM_001164508.2	NP_001157980.2:p.(Met1916Thr)	NC_000002.11:g.152520078A>G	VUS	1 lab	99b256bd4d
6:24515429 ALDH5A1 A>G	6	24515429	24515429	A	G	ALDH5A1	c.761A>G	NM_001080.3	NP_001071.1:p.(Tyr254Cys)	NC_000006.11:g.24515429A>G	VUS	1 lab	99b2ad2feb
8:101092400 RGS22 C>T	8	101092400	101092400	C	T	RGS22	c.301G>A	NM_015668.5	NP_056483.3:p.(Asp101Asn)	NC_000008.10:g.101092400C>T	(Likely) benign	1 lab	99b3407a9b
1:27106354 ARID1A C>T	1	27106354	27106354	C	T	ARID1A	c.5965C>T	NM_006015.6	NP_006006.3:p.(Arg1989Ter)	NC_000001.10:g.27106354C>T	(Likely) pathogenic	1 lab	99b44100b5
3:47165569 SETD2 G>A	3	47165569	47165569	G	A	SETD2	c.557C>T	NM_014159.7	NP_054878.5:p.(Pro186Leu)	NC_000003.11:g.47165569G>A	VUS	1 lab	99b6be032f
12:12300441 LRP6 C>T	12	12300441	12300441	C	T	LRP6	c.3256G>A	NM_002336.3	NP_002327.2:p.(Ala1086Thr)	NC_000012.11:g.12300441C>T	VUS	1 lab	99b74755e1
3:145794607 PLOD2 A>G	3	145794607	145794607	A	G	PLOD2	c.1639T>C	NM_182943.3	NP_891988.1:p.(Tyr547His)	NC_000003.11:g.145794607A>G	(Likely) benign	1 lab	99b7f295d6
19:22156863 ZNF208 C>A	19	22156863	22156863	C	A	ZNF208	c.973G>T	NM_007153.3	NP_009084.2:p.(Val325Phe)	NC_000019.9:g.22156863C>A	(Likely) benign	1 lab	99bb01969f
8:127569333 LRATD2 G>A	8	127569333	127569333	G	A	LRATD2	c.302C>T	NM_174911.5	NP_777571.1:p.(Ser101Leu)	NC_000008.10:g.127569333G>A	(Likely) benign	1 lab	99bdb04e86
5:32057997 PDZD2 G>A	5	32057997	32057997	G	A	PDZD2	c.1988G>A	NM_178140.4	NP_835260.2:p.(Gly663Glu)	NC_000005.9:g.32057997G>A	VUS	1 lab	99bddf00b3
4:26364238 RBPJ C>T	4	26364238	26364238	C	T	RBPJ	c.21-23737C>T	NM_015874.6	NP_056958.3:p.?	NC_000004.11:g.26364238C>T	(Likely) benign	1 lab	99be9be159
15:45897690 BLOC1S6 A>T	15	45897690	45897690	A	T	BLOC1S6	c.377A>T	NM_012388.4	NP_036520.1:p.(His126Leu)	NC_000015.9:g.45897690A>T	VUS	1 lab	99be9f0cbb
6:101215020 ASCC3 C>A	6	101215020	101215020	C	A	ASCC3	c.1596+1G>T	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.101215020C>A	VUS	1 lab	99c2974c43
11:837964 CD151 A>C	11	837964	837964	A	C	CD151	c.638A>C	NM_004357.5	NP_004348.2:p.(Glu213Ala)	NC_000011.9:g.837964A>C	VUS	1 lab	99c30917f7
11:15994545 SOX6 G>A	11	15994545	15994545	G	A	SOX6	c.2297C>T	NM_001367873.1	NP_001354802.1:p.(Ser766Leu)	NC_000011.9:g.15994545G>A	VUS	1 lab	99c37a9e0d
16:58036390 USB1 A>G	16	58036390	58036390	A	G	USB1	c.106A>G	NM_024598.4	NP_078874.2:p.(Ser36Gly)	NC_000016.9:g.58036390A>G	VUS	1 lab	99c51bf65f
4:41747904 PHOX2B C>T	4	41747904	41747904	C	T	PHOX2B	c.865G>A	NM_003924.4	NP_003915.2:p.(Gly289Ser)	NC_000004.11:g.41747904C>T	VUS	1 lab	99c9a692aa
1:222832992 MIA3 A>C	1	222832992	222832992	A	C	MIA3	c.4799A>C	NM_198551.4	NP_940953.2:p.(Glu1600Ala)	NC_000001.10:g.222832992A>C	(Likely) benign	1 lab	99c9b044c5
16:2139849 PKD1 G>A	16	2139849	2139849	G	A	PKD1	c.12791C>T	NM_001009944.3	NP_001009944.3:p.(Pro4264Leu)	NC_000016.9:g.2139849G>A	(Likely) benign	1 lab	99cc0a6db2
15:81648870 TMC3 C>T	15	81648870	81648870	C	T	TMC3	c.809G>A	NM_001080532.3	NP_001074001.1:p.(Arg270Gln)	NC_000015.9:g.81648870C>T	(Likely) benign	1 lab	99ccfc898f
15:51828834 DMXL2 T>C	15	51828834	51828834	T	C	DMXL2	c.1843A>G	NM_001174116.3	NP_001167587.1:p.(Lys615Glu)	NC_000015.9:g.51828834T>C	VUS	1 lab	26ab91c61b
1:45271008 PLK3 C>T	1	45271008	45271008	C	T	PLK3	c.1706C>T	NM_004073.4	NP_004064.2:p.(Thr569Met)	NC_000001.10:g.45271008C>T	VUS	1 lab	99cdab1767
20:17477592 BFSP1 C>T	20	17477592	17477592	C	T	BFSP1	c.1033G>A	NM_001195.5	NP_001186.1:p.(Gly345Ser)	NC_000020.10:g.17477592C>T	(Likely) benign	1 lab	26adacc4ee
8:119945546 TNFRSF11B G>A	8	119945546	119945546	G	A	TNFRSF11B	c.31-7C>T	NM_002546.4	NP_002537.3:p.?	NC_000008.10:g.119945546G>A	(Likely) benign	1 lab	99cef4f625
19:5719911 LONP1 G>A	19	5719911	5719911	G	A	LONP1	c.233C>T	NM_004793.4	NP_004784.2:p.(Ala78Val)	NC_000019.9:g.5719911G>A	(Likely) benign	1 lab	99d02e3ff1
3:38520011 ACVR2B T>G	3	38520011	38520011	T	G	ACVR2B	c.666+2T>G	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38520011T>G	VUS	1 lab	99d2ced709
7:27224432 HOXA11 G>A	7	27224432	27224432	G	A	HOXA11	c.332C>T	NM_005523.6	NP_005514.1:p.(Ser111Leu)	NC_000007.13:g.27224432G>A	(Likely) benign	1 lab	99d4f2bbb7
13:110857714 COL4A1 G>A	13	110857714	110857714	G	A	COL4A1	c.943C>T	NM_001845.6	NP_001836.3:p.(Arg315Cys)	NC_000013.10:g.110857714G>A	VUS	1 lab	99d58ac05a
8:11566309 GATA4 C>G	8	11566309	11566309	C	G	GATA4	c.488C>G	NM_001308093.3	NP_001295022.1:p.(Pro163Arg)	NC_000008.10:g.11566309C>G	VUS	1 lab	99d5927b00
5:140503491 PCDHB4 C>G	5	140503491	140503491	C	G	PCDHB4	c.1911C>G	NM_018938.4	NP_061761.1:p.(His637Gln)	NC_000005.9:g.140503491C>G	(Likely) benign	1 lab	99d67201f5
20:62867972 MYT1 CTCAGT>C	20	62867972	62867977	CTCAGT	C	MYT1	c.2963_2967del	NM_004535.3	NP_004526.1:p.(Leu988ProfsTer6)	NC_000020.10:g.62867973_62867977del	VUS	1 lab	99d6731a6f
16:88802822 PIEZO1 C>T	16	88802822	88802822	C	T	PIEZO1	c.1297-6G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88802822C>T	(Likely) benign	1 lab	99d8d02ec4
10:11312752 CELF2 A>C	10	11312752	11312752	A	C	CELF2	c.742A>C	NM_001326342.2	NP_001313271.1:p.(Thr248Pro)	NC_000010.10:g.11312752A>C	VUS	1 lab	99db9f744e
11:837247 CD151 C>A	11	837247	837247	C	A	CD151	c.352-3C>A	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.837247C>A	(Likely) benign	1 lab	99ddc84035
4:56291528 TMEM165 TTC>T	4	56291528	56291537	TTC	T	TMEM165	c.899-7_899-6del	NM_018475.5	NP_060945.2:p.?	NC_000004.11:g.56291536_56291537del	(Likely) benign	1 lab	99de4ef124
17:41243962 BRCA1 T>C	17	41243962	41243962	T	C	BRCA1	c.3586A>G	NM_007294.4	NP_009225.1:p.(Thr1196Ala)	NC_000017.10:g.41243962T>C	VUS	1 lab	99dea56d96
19:55179246 LILRB4 T>A	19	55179246	55179246	T	A	LILRB4	c.1200+2T>A	NM_001278426.4	NP_001265355.2:p.?	NC_000019.9:g.55179246T>A	(Likely) benign	1 lab	99df44badd
19:17081705 CPAMD8 G>C	19	17081705	17081705	G	C	CPAMD8	c.2209C>G	NM_015692.5	NP_056507.3:p.(Pro737Ala)	NC_000019.9:g.17081705G>C	(Likely) benign	1 lab	99df89388b
4:129869643 SCLT1 C>CT	4	129869643	129869648	C	CT	SCLT1	c.1293+7dup	NM_144643.4	NP_653244.2:p.?	NC_000004.11:g.129869648dup	(Likely) benign	1 lab	99e01226c3
X:128657329 SMARCA1 C>T	X	128657329	128657329	C	T	SMARCA1	c.19G>A	NM_001282874.2	NP_001269803.1:p.(Ala7Thr)	NC_000023.10:g.128657329C>T	(Likely) benign	1 lab	99e0672467
X:153588496 FLNA G>A	X	153588496	153588496	G	A	FLNA	c.3667C>T	NM_001456.3	NP_001447.2:p.(Pro1223Ser)	NC_000023.10:g.153588496G>A	VUS	1 lab	2851156829
15:90278785 WDR93 G>C	15	90278785	90278785	G	C	WDR93	c.1608+1G>C	NM_020212.2	NP_064597.1:p.?	NC_000015.9:g.90278785G>C	VUS	1 lab	99e1039981
8:126087273 WASHC5 A>C	8	126087273	126087273	A	C	WASHC5	c.945T>G	NM_014846.4	NP_055661.3:p.(Asn315Lys)	NC_000008.10:g.126087273A>C	VUS	1 lab	99e1532d43
18:43445730 EPG5 CAA>C	18	43445730	43445747	CAA	C	EPG5	c.6622-8_6622-7del	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43445746_43445747del	(Likely) benign	1 lab	99e1609b59
16:16286764 ABCC6 C>T	16	16286764	16286764	C	T	ABCC6	c.1354G>A	NM_001171.6	NP_001162.5:p.(Ala452Thr)	NC_000016.9:g.16286764C>T	(Likely) benign	1 lab	99e29e0347
1:162729712 DDR2 T>A	1	162729712	162729712	T	A	DDR2	c.798T>A	NM_006182.4	NP_006173.2:p.(Asn266Lys)	NC_000001.10:g.162729712T>A	(Likely) benign	1 lab	99e2bfcfd9
5:153056678 GRIA1 T>C	5	153056678	153056678	T	C	GRIA1	c.986T>C	NM_000827.4	NP_000818.2:p.(Val329Ala)	NC_000005.9:g.153056678T>C	(Likely) benign	1 lab	99e34a3729
16:2156788 PKD1 A>C	16	2156788	2156788	A	C	PKD1	c.7209+18T>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2156788A>C	(Likely) benign	1 lab	99e429ca8a
17:41245478 BRCA1 T>G	17	41245478	41245478	T	G	BRCA1	c.2070A>C	NM_007294.4	NP_009225.1:p.(Lys690Asn)	NC_000017.10:g.41245478T>G	VUS	1 lab	99e6206be2
4:56886954 CEP135 A>G	4	56886954	56886954	A	G	CEP135	c.3320+8A>G	NM_025009.5	NP_079285.2:p.?	NC_000004.11:g.56886954A>G	(Likely) benign	1 lab	99e74dfb6d
17:17698117 RAI1 G>A	17	17698117	17698117	G	A	RAI1	c.1855G>A	NM_030665.4	NP_109590.3:p.(Gly619Ser)	NC_000017.10:g.17698117G>A	(Likely) benign	1 lab	99e84f04a4
12:124242475 ATP6V0A2 G>T	12	124242475	124242475	G	T	ATP6V0A2	c.2467G>T	NM_012463.4	NP_036595.2:p.(Val823Leu)	NC_000012.11:g.124242475G>T	(Likely) benign	1 lab	99e8a7de27
6:79650916 PHIP T>C	6	79650916	79650916	T	C	PHIP	c.4960A>G	NM_017934.7	NP_060404.4:p.(Ile1654Val)	NC_000006.11:g.79650916T>C	(Likely) benign	1 lab	99e9d7faca
11:94201026 MRE11 G>A	11	94201026	94201026	G	A	MRE11	c.1051C>T	NM_005591.4	NP_005582.1:p.(Arg351Cys)	NC_000011.9:g.94201026G>A	VUS	1 lab	99ead659df
3:58003255 FLNB C>T	3	58003255	58003255	C	T	FLNB	c.292+8672C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58003255C>T	(Likely) benign	1 lab	99eaefbb10
1:984815 AGRN G>A	1	984815	984815	G	A	AGRN	c.4498G>A	NM_198576.4	NP_940978.2:p.(Glu1500Lys)	NC_000001.10:g.984815G>A	(Likely) benign	1 lab	99ebbf2f47
12:116718053 MED13L G>C	12	116718053	116718053	G	C	MED13L				NC_000012.11:g.116718053G>C	VUS	1 lab	99f2f8ebea
19:36279119 ARHGAP33 A>G	19	36279119	36279119	A	G	ARHGAP33	c.3652A>G	NM_001366178.1	NP_001353107.1:p.(Thr1218Ala)	NC_000019.9:g.36279119A>G	(Likely) benign	1 lab	99f407fb27
11:27016275 FIBIN G>C	11	27016275	27016275	G	C	FIBIN	c.202G>C	NM_203371.2	NP_976249.1:p.(Glu68Gln)	NC_000011.9:g.27016275G>C	VUS	1 lab	26af3d301b
22:16287445 POTEH C>A	22	16287445	16287445	C	A	POTEH	c.441G>T	NM_001136213.1	NP_001129685.1:p.(Arg147Ser)	NC_000022.10:g.16287445C>A	(Likely) benign	1 lab	99f562f8e4
21:44846033 SIK1 G>T	21	44846033	44846033	G	T	SIK1	c.26C>A	NM_173354.5	NP_775490.2:p.(Ala9Glu)	NC_000021.8:g.44846033G>T	(Likely) benign	1 lab	99f59f34a8
4:122728786 EXOSC9 C>T	4	122728786	122728786	C	T	EXOSC9	c.605+9C>T	NM_005033.3	NP_005024.2:p.?	NC_000004.11:g.122728786C>T	(Likely) benign	1 lab	99f5d5ac77
9:126133751 CRB2 T>A	9	126133751	126133751	T	A	CRB2	c.2330T>A	NM_173689.7	NP_775960.4:p.(Leu777His)	NC_000009.11:g.126133751T>A	VUS	1 lab	99f5f882e2
5:14497963 TRIO A>T	5	14497963	14497963	A	T	TRIO	c.8027A>T	NM_007118.4	NP_009049.2:p.(Asn2676Ile)	NC_000005.9:g.14497963A>T	VUS	1 lab	99f7160e79
17:56397885 TSPOAP1 G>A	17	56397885	56397885	G	A	TSPOAP1	c.1473+7C>T	NM_004758.4	NP_004749.2:p.?	NC_000017.10:g.56397885G>A	(Likely) benign	1 lab	99f8318d3a
11:63987487 FERMT3 G>A	11	63987487	63987487	G	A	FERMT3	c.1204G>A	NM_031471.6	NP_113659.3:p.(Gly402Ser)	NC_000011.9:g.63987487G>A	VUS	1 lab	99f9f249fc
X:106097473 TBC1D8B C>T	X	106097473	106097473	C	T	TBC1D8B	c.2299C>T	NM_017752.3	NP_060222.2:p.(Arg767Ter)	NC_000023.10:g.106097473C>T	VUS	1 lab	99fa0e1250
12:50492607 SMARCD1 A>G	12	50492607	50492607	A	G	SMARCD1	c.1494+9A>G	NM_003076.5	NP_003067.3:p.?	NC_000012.11:g.50492607A>G	(Likely) benign	1 lab	99fa558da9
3:142278126 ATR C>T	3	142278126	142278126	C	T	ATR	c.1699G>A	NM_001184.4	NP_001175.2:p.(Val567Met)	NC_000003.11:g.142278126C>T	(Likely) benign	1 lab	99fa5a46be
16:8941604 PMM2 C>A	16	8941604	8941604	C	A	PMM2	c.663C>A	NM_000303.3	NP_000294.1:p.(Phe221Leu)	NC_000016.9:g.8941604C>A	VUS	1 lab	99fa5fb204
1:186303670 TPR T>TA	1	186303670	186303671	T	TA	TPR	c.4974-6dup	NM_003292.3	NP_003283.2:p.?	NC_000001.10:g.186303671dup	VUS	1 lab	99fa5fcead
11:62296476 AHNAK C>G	11	62296476	62296476	C	G	AHNAK	c.5413G>C	NM_001620.3	NP_001611.1:p.(Glu1805Gln)	NC_000011.9:g.62296476C>G	VUS	1 lab	26b20a8d53
15:90196190 KIF7 GGAGA>G	15	90196190	90196202	GGAGA	G	KIF7	c.-24-9_-24-6del	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90196199_90196202del	(Likely) benign	1 lab	99fe7576b4
16:15045628 NPIPA1 T>C	16	15045628	15045628	T	C	NPIPA1	c.799T>C	NM_006985.4	NP_008916.2:p.(Ser267Pro)	NC_000016.9:g.15045628T>C	VUS	1 lab	9a0197c007
6:74207514 MTO1 A>T	6	74207514	74207514	A	T	MTO1	c.1812A>T	NM_012123.4	NP_036255.2:p.(Gln604His)	NC_000006.11:g.74207514A>T	(Likely) benign	1 lab	9a02769d3c
12:49424177 KMT2D T>G	12	49424177	49424177	T	G	KMT2D	c.13885A>C	NM_003482.4	NP_003473.3:p.(Thr4629Pro)	NC_000012.11:g.49424177T>G	VUS	1 lab	9a03d4ac12
1:202864687 KLHL12 A>T	1	202864687	202864687	A	T	KLHL12	c.1098T>A	NM_021633.4	NP_067646.1:p.(Asn366Lys)	NC_000001.10:g.202864687A>T	(Likely) benign	1 lab	9a03deab25
15:73617391 HCN4 A>G	15	73617391	73617391	A	G	HCN4	c.1883T>C	NM_005477.3	NP_005468.1:p.(Ile628Thr)	NC_000015.9:g.73617391A>G	VUS	1 lab	26b2cf4b2f
9:126133160 CRB2 C>T	9	126133160	126133160	C	T	CRB2	c.1828C>T	NM_173689.7	NP_775960.4:p.(Arg610Trp)	NC_000009.11:g.126133160C>T	(Likely) benign	1 lab	9a064ffd64
17:40502961 STAT3 C>T	17	40502961	40502961	C	T	STAT3	c.-23-2404G>A	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40502961C>T	(Likely) benign	1 lab	9a067e0df9
8:72129230 EYA1 A>G	8	72129230	72129230	A	G	EYA1	c.1169T>C	NM_000503.6	NP_000494.2:p.(Val390Ala)	NC_000008.10:g.72129230A>G	VUS	1 lab	9a0693f941
12:90049560 ATP2B1 C>T	12	90049560	90049560	C	T	ATP2B1	c.104G>A	NM_001366521.1	NP_001353450.1:p.(Arg35Gln)	NC_000012.11:g.90049560C>T	VUS	1 lab	9a0772fc17
8:38271163 FGFR1 C>T	8	38271163	38271163	C	T	FGFR1	c.2452G>A	NM_023110.3	NP_075598.2:p.(Gly818Arg)	NC_000008.10:g.38271163C>T	VUS	1 lab	9a089827cc
1:156108324 LMNA C>T	1	156108324	156108324	C	T	LMNA	c.1744C>T	NM_170707.4	NP_733821.1:p.(Arg582Cys)	NC_000001.10:g.156108324C>T	(Likely) pathogenic	1 lab	9a09ffdfa2
6:26107823 H1-6 C>A	6	26107823	26107823	C	A	H1-6	c.499G>T	NM_005323.4	NP_005314.2:p.(Gly167Trp)	NC_000006.11:g.26107823C>A	VUS	1 lab	9a0ae71c2d
1:112524259 KCND3 T>C	1	112524259	112524259	T	C	KCND3	c.1090A>G	NM_001378969.1	NP_001365898.1:p.(Thr364Ala)	NC_000001.10:g.112524259T>C	(Likely) pathogenic	1 lab	9a0b786751
9:98734269 ERCC6L2 C>G	9	98734269	98734269	C	G	ERCC6L2	c.2236C>G	NM_020207.7	NP_064592.3:p.(Leu746Val)	NC_000009.11:g.98734269C>G	(Likely) benign	1 lab	9a0be04c34
11:121008311 TECTA G>C	11	121008311	121008311	G	C	TECTA	c.3123G>C	NM_005422.4	NP_005413.2:p.(Glu1041Asp)	NC_000011.9:g.121008311G>C	VUS	1 lab	9a0e26375c
7:103113265 RELN G>T	7	103113265	103113265	G	T	RELN	c.10377C>A	NM_005045.4	NP_005036.2:p.(Tyr3459Ter)	NC_000007.13:g.103113265G>T	VUS	1 lab	9a0e8dec71
1:16354556 CLCNKA C>T	1	16354556	16354556	C	T	CLCNKA	c.910C>T	NM_004070.4	NP_004061.3:p.(Arg304Ter)	NC_000001.10:g.16354556C>T	VUS	1 lab	9a0fa4e573
X:2793951 GYG2 T>C	X	2793951	2793951	T	C	GYG2	c.1139T>C	NM_001079855.2	NP_001073324.1:p.(Ile380Thr)	NC_000023.10:g.2793951T>C	VUS	1 lab	9a11e4ad9c
5:141993631 FGF1 C>T	5	141993631	141993631	C	T	FGF1	c.62G>A	NM_000800.5	NP_000791.1:p.(Gly21Glu)	NC_000005.9:g.141993631C>T	(Likely) benign	1 lab	9a15c0d615
1:152283965 FLG G>A	1	152283965	152283965	G	A	FLG	c.3397C>T	NM_002016.2	NP_002007.1:p.(Arg1133Trp)	NC_000001.10:g.152283965G>A	(Likely) benign	1 lab	9a1720ee0a
1:228434467 OBSCN T>C	1	228434467	228434467	T	C	OBSCN	c.3996T>C	NM_052843.4	NP_443075.3:p.(Ala1332=)	NC_000001.10:g.228434467T>C	(Likely) benign	1 lab	26b665da02
1:245027417 HNRNPU C>T	1	245027417	245027417	C	T	HNRNPU	c.193G>A	NM_031844.3	NP_114032.2:p.(Asp65Asn)	NC_000001.10:g.245027417C>T	(Likely) benign	1 lab	9a1b47a71d
4:110222886 COL25A1 A>T	4	110222886	110222886	A	T	COL25A1	c.290T>A	NM_198721.4	NP_942014.1:p.(Leu97Gln)	NC_000004.11:g.110222886A>T	VUS	1 lab	9a1cae87d2
10:79745735 POLR3A C>A	10	79745735	79745735	C	A	POLR3A	c.2997G>T	NM_007055.4	NP_008986.2:p.(Val999=)	NC_000010.10:g.79745735C>A	(Likely) benign	1 lab	9a1ce5754c
19:4094506 MAP2K2 C>T	19	4094506	4094506	C	T	MAP2K2	c.1047-10G>A	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4094506C>T	(Likely) benign	1 lab	9a1ec817aa
15:52900948 ATOSA ATTAAG>A	15	52900948	52900955	ATTAAG	A	ATOSA	c.2158_2162del	NM_001385016.1	NP_001371945.1:p.(Leu720Ter)	NC_000015.9:g.52900951_52900955del	VUS	1 lab	9a1eed68a7
10:95458153 FRA10AC1 C>G	10	95458153	95458153	C	G	FRA10AC1	c.78G>C	NM_145246.5	NP_660289.2:p.(Arg26Ser)	NC_000010.10:g.95458153C>G	(Likely) benign	1 lab	9a1f299766
6:152783902 SYNE1 T>G	6	152783902	152783902	T	G	SYNE1	c.2221A>C	NM_182961.4	NP_892006.3:p.(Asn741His)	NC_000006.11:g.152783902T>G	(Likely) benign	1 lab	9a1f836930
18:51750581 MBD2 C>CGCT	18	51750581	51750586	C	CGCT	MBD2	c.346_348dup	NM_003927.5	NP_003918.1:p.(Ser116dup)	NC_000018.9:g.51750584_51750586dup	(Likely) benign	1 lab	9a1ff1bc8a
7:19156874 TWIST1 G>A	7	19156874	19156874	G	A	TWIST1	c.71C>T	NM_000474.4	NP_000465.1:p.(Pro24Leu)	NC_000007.13:g.19156874G>A	VUS	1 lab	9a2031c5e5
3:132423129 NPHP3 A>C	3	132423129	132423129	A	C	NPHP3	c.1437T>G	NM_153240.5	NP_694972.3:p.(Asp479Glu)	NC_000003.11:g.132423129A>C	(Likely) pathogenic	1 lab	9a2038c94e
5:140762533 PCDHGA1 C>A	5	140762533	140762533	C	A	PCDHGA1	c.2421+49861C>A	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140762533C>A	VUS	1 lab	9a22e91aed
8:30938816 WRN C>T	8	30938816	30938816	C	T	WRN	c.1269+4C>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30938816C>T	VUS	1 lab	9a2413b9fa
10:81067261 ZMIZ1 A>C	10	81067261	81067261	A	C	ZMIZ1	c.2768A>C	NM_020338.4	NP_065071.1:p.(His923Pro)	NC_000010.10:g.81067261A>C	(Likely) benign	1 lab	9a246510b4
11:13750211 FAR1 C>T	11	13750211	13750211	C	T	FAR1	c.1438C>T	NM_032228.6	NP_115604.1:p.(Arg480Cys)	NC_000011.9:g.13750211C>T	(Likely) pathogenic	1 lab	9a280f1761
10:102740026 SEMA4G C>T	10	102740026	102740026	C	T	SEMA4G	c.1276C>T	NM_017893.4	NP_060363.2:p.(Arg426Cys)	NC_000010.10:g.102740026C>T	(Likely) benign	1 lab	9a29c0c2b0
11:128781577 KCNJ5 G>A	11	128781577	128781577	G	A	KCNJ5	c.409G>A	NM_000890.5	NP_000881.3:p.(Val137Met)	NC_000011.9:g.128781577G>A	(Likely) benign	1 lab	9a2a23b75e
16:16244435 ABCC6 C>T	16	16244435	16244435	C	T	ABCC6	c.4403G>A	NM_001171.6	NP_001162.5:p.(Arg1468Gln)	NC_000016.9:g.16244435C>T	VUS	1 lab	9a2a6222b3
6:107103537 QRSL1 A>G	6	107103537	107103537	A	G	QRSL1	c.1090A>G	NM_018292.5	NP_060762.3:p.(Thr364Ala)	NC_000006.11:g.107103537A>G	VUS	1 lab	9a2b3294e0
1:179985031 CEP350 A>C	1	179985031	179985031	A	C	CEP350	c.2100A>C	NM_014810.5	NP_055625.4:p.(Lys700Asn)	NC_000001.10:g.179985031A>C	VUS	1 lab	9a2b55df87
10:73490265 CDH23 G>A	10	73490265	73490265	G	A	CDH23	c.3619G>A	NM_022124.6	NP_071407.4:p.(Val1207Met)	NC_000010.10:g.73490265G>A	(Likely) benign	1 lab	9a52829ed4
9:132580831 TOR1A G>A	9	132580831	132580831	G	A	TOR1A	c.716C>T	NM_000113.3	NP_000104.1:p.(Ala239Val)	NC_000009.11:g.132580831G>A	VUS	1 lab	26b6fa3d2e
7:92123599 PEX1 A>G	7	92123599	92123599	A	G	PEX1	c.3030+8T>C	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92123599A>G	(Likely) benign	1 lab	9a2ea480c2
2:170053531 LRP2 G>A	2	170053531	170053531	G	A	LRP2	c.8588C>T	NM_004525.3	NP_004516.2:p.(Thr2863Met)	NC_000002.11:g.170053531G>A	VUS	1 lab	9a2ffbe4e2
5:82400801 XRCC4 A>G	5	82400801	82400801	A	G	XRCC4	c.63A>G	NM_003401.5	NP_003392.1:p.(Gln21=)	NC_000005.9:g.82400801A>G	VUS	1 lab	9a30579b7c
1:206681093 RASSF5 C>A	1	206681093	206681093	C	A	RASSF5	c.158C>A	NM_182663.4	NP_872604.1:p.(Ala53Glu)	NC_000001.10:g.206681093C>A	VUS	1 lab	9a316ea724
7:70239014 AUTS2 A>G	7	70239014	70239014	A	G	AUTS2	c.1831A>G	NM_015570.4	NP_056385.1:p.(Thr611Ala)	NC_000007.13:g.70239014A>G	VUS	1 lab	9a327ecc54
2:165986491 SCN3A G>A	2	165986491	165986491	G	A	SCN3A	c.2881C>T	NM_006922.4	NP_008853.3:p.(Leu961Phe)	NC_000002.11:g.165986491G>A	VUS	1 lab	9a32a2068a
16:89254653 CDH15 C>T	16	89254653	89254653	C	T	CDH15	c.938C>T	NM_004933.3	NP_004924.1:p.(Thr313Met)	NC_000016.9:g.89254653C>T	VUS	1 lab	9a332f8bff
1:152279848 FLG T>C	1	152279848	152279848	T	C	FLG	c.7514A>G	NM_002016.2	NP_002007.1:p.(His2505Arg)	NC_000001.10:g.152279848T>C	(Likely) benign	1 lab	9a33b3c05c
5:37006540 NIPBL A>G	5	37006540	37006540	A	G	NIPBL	c.3937A>G	NM_133433.4	NP_597677.2:p.(Thr1313Ala)	NC_000005.9:g.37006540A>G	(Likely) benign	1 lab	9a33e5674b
X:152090767 ZNF185 C>T	X	152090767	152090767	C	T	ZNF185	c.707C>T	NM_001395254.1	NP_001382183.1:p.(Pro236Leu)	NC_000023.10:g.152090767C>T	VUS	1 lab	9a3802c62d
6:51890573 PKHD1 G>T	6	51890573	51890573	G	T	PKHD1	c.4035C>A	NM_138694.4	NP_619639.3:p.(Gly1345=)	NC_000006.11:g.51890573G>T	(Likely) benign	1 lab	9a391ddf56
16:88790309 PIEZO1 G>A	16	88790309	88790309	G	A	PIEZO1	c.4305C>T	NM_001142864.4	NP_001136336.2:p.(Asp1435=)	NC_000016.9:g.88790309G>A	(Likely) benign	1 lab	9a3c4c9f1c
21:33043954 SCAF4 ACT>A	21	33043954	33043960	ACT	A	SCAF4	c.3200_3201del	NM_020706.2	NP_065757.1:p.(Glu1067ValfsTer3)	NC_000021.8:g.33043959_33043960del	VUS	1 lab	26b93e4fc0
16:30913463 CTF1 G>A	16	30913463	30913463	G	A	CTF1	c.209G>A	NM_001330.5	NP_001321.1:p.(Gly70Asp)	NC_000016.9:g.30913463G>A	VUS	1 lab	9a4ac71528
11:108119690 ATM ATTTCT>A	11	108119690	108119695	ATTTCT	A	ATM	c.1097_1101del	NM_000051.4	NP_000042.3:p.(Ile366ThrfsTer11)	NC_000011.9:g.108119691_108119695del	VUS	1 lab	9a3e1e5b4f
7:39991447 CDK13 C>T	7	39991447	39991447	C	T	CDK13	c.1207C>T	NM_003718.5	NP_003709.3:p.(Leu403Phe)	NC_000007.13:g.39991447C>T	(Likely) benign	1 lab	9a3e9bcf20
19:42728636 ZNF526 G>A	19	42728636	42728636	G	A	ZNF526	c.81G>A	NM_133444.3	NP_597701.1:p.(Ser27=)	NC_000019.9:g.42728636G>A	(Likely) benign	1 lab	9a3f6d7d88
X:49022686 MAGIX G>A	X	49022686	49022686	G	A	MAGIX	c.953G>A	NM_024859.4	NP_079135.3:p.(Arg318Gln)	NC_000023.10:g.49022686G>A	(Likely) benign	1 lab	9a3fe0e6a0
3:39230844 XIRP1 C>A	3	39230844	39230844	C	A	XIRP1	c.93G>T	NM_194293.4	NP_919269.2:p.(Glu31Asp)	NC_000003.11:g.39230844C>A	VUS	1 lab	9a401c0675
7:91714870 AKAP9 A>G	7	91714870	91714870	A	G	AKAP9	c.8894A>G	NM_005751.5	NP_005742.4:p.(Tyr2965Cys)	NC_000007.13:g.91714870A>G	(Likely) benign	1 lab	9a413c81a8
17:10298502 MYH8 C>T	17	10298502	10298502	C	T	MYH8	c.4910G>A	NM_002472.3	NP_002463.2:p.(Arg1637His)	NC_000017.10:g.10298502C>T	VUS	1 lab	9a41a25527
X:18622046 CDKL5 T>C	X	18622046	18622046	T	C	CDKL5	c.1002T>C	NM_001037343.1	NP_001032420.1:p.(Ala334=)	NC_000023.10:g.18622046T>C	(Likely) benign	1 lab	285243209f
7:156529311 LMBR1 T>C	7	156529311	156529311	T	C	LMBR1	c.758-2360A>G	NM_022458.4	NP_071903.2:p.?	NC_000007.13:g.156529311T>C	(Likely) benign	1 lab	9a436bf808
19:38956907 RYR1 G>A	19	38956907	38956907	G	A	RYR1	c.3047G>A	NM_000540.3	NP_000531.2:p.(Arg1016Gln)	NC_000019.9:g.38956907G>A	VUS	1 lab	9a46ca075c
5:172660131 NKX2-5 C>T	5	172660131	172660131	C	T	NKX2-5	c.416G>A	NM_004387.4	NP_004378.1:p.(Arg139Lys)	NC_000005.9:g.172660131C>T	VUS	1 lab	9a483ebd2a
5:5209207 ADAMTS16 A>G	5	5209207	5209207	A	G	ADAMTS16	c.1453A>G	NM_139056.4	NP_620687.2:p.(Thr485Ala)	NC_000005.9:g.5209207A>G	(Likely) benign	1 lab	9a493ff871
1:152283274 FLG T>TGGA	1	152283274	152283276	T	TGGA	FLG	c.4087_4088insTCC	NM_002016.2	NP_002007.1:p.(Gln1362_Gln1363insLeu)	NC_000001.10:g.152283275_152283276insGAG	VUS	1 lab	9a4b7d9a6f
11:103048449 DYNC2H1 G>T	11	103048449	103048449	G	T	DYNC2H1	c.6039G>T	NM_001377.3	NP_001368.2:p.(Met2013Ile)	NC_000011.9:g.103048449G>T	VUS	1 lab	9a4c5e5065
6:131917722 MED23 T>G	6	131917722	131917722	T	G	MED23	c.2714A>C	NM_004830.4	NP_004821.2:p.(Lys905Thr)	NC_000006.11:g.131917722T>G	VUS	1 lab	9a511cd459
X:73961130 NEXMIF T>C	X	73961130	73961130	T	C	NEXMIF	c.3262A>G	NM_001008537.3	NP_001008537.1:p.(Ser1088Gly)	NC_000023.10:g.73961130T>C	VUS	1 lab	9a517dbb31
12:2716198 CACNA1C C>T	12	2716198	2716198	C	T	CACNA1C	c.3258C>T	NM_000719.7	NP_000710.5:p.(Ile1086=)	NC_000012.11:g.2716198C>T	(Likely) benign	1 lab	9a52ca80d7
14:94048650 UNC79 G>T	14	94048650	94048650	G	T	UNC79	c.2763G>T	NM_001395159.1	NP_001382088.1:p.(Gly921=)	NC_000014.8:g.94048650G>T	(Likely) benign	1 lab	9a54e95155
3:87310439 POU1F1 G>A	3	87310439	87310439	G	A	POU1F1	c.649C>T	NM_000306.4	NP_000297.1:p.(Arg217Ter)	NC_000003.11:g.87310439G>A	(Likely) pathogenic	1 lab	9a55fd01e5
5:141325257 PCDH12 C>G	5	141325257	141325257	C	G	PCDH12	c.3244G>C	NM_016580.4	NP_057664.1:p.(Glu1082Gln)	NC_000005.9:g.141325257C>G	VUS	1 lab	9a5b37cb34
14:64675578 SYNE2 G>A	14	64675578	64675578	G	A	SYNE2	c.18304G>A	NM_182914.3	NP_878918.2:p.(Glu6102Lys)	NC_000014.8:g.64675578G>A	(Likely) benign	1 lab	9a5d9d3947
11:117864113 IL10RA G>A	11	117864113	117864113	G	A	IL10RA	c.525G>A	NM_001558.3	NP_001549.2:p.(Pro175=)	NC_000011.9:g.117864113G>A	(Likely) benign	1 lab	28536464d6
9:711396 KANK1 C>G	9	711396	711396	C	G	KANK1	c.630C>G	NM_015158.5	NP_055973.2:p.(His210Gln)	NC_000009.11:g.711396C>G	(Likely) benign	1 lab	9a61c1bba5
1:16356268 CLCNKA G>A	1	16356268	16356268	G	A	CLCNKA	c.1270G>A	NM_004070.4	NP_004061.3:p.(Gly424Arg)	NC_000001.10:g.16356268G>A	VUS	1 lab	9a61f0506d
19:40405918 FCGBP C>T	19	40405918	40405918	C	T	FCGBP	c.4927+1G>A	NM_003890.3	NP_003881.2:p.?	NC_000019.9:g.40405918C>T	VUS	1 lab	9a6308894f
11:126316772 KIRREL3 C>T	11	126316772	126316772	C	T	KIRREL3	c.1007G>A	NM_032531.4	NP_115920.1:p.(Arg336Gln)	NC_000011.9:g.126316772C>T	(Likely) benign	1 lab	9a63096b16
14:45481187 TOGARAM1 AT>A	14	45481187	45481190	AT	A	TOGARAM1	c.3150del	NM_001308120.2	NP_001295049.1:p.(Pro1051GlnfsTer54)	NC_000014.8:g.45481190del	(Likely) pathogenic	1 lab	9a6397967c
11:118896009 SLC37A4 C>A	11	118896009	118896009	C	A	SLC37A4	c.1015G>T	NM_001164277.2	NP_001157749.1:p.(Gly339Cys)	NC_000011.9:g.118896009C>A	(Likely) pathogenic	1 lab	9a6581514f
2:179455829 TTN A>G	2	179455829	179455829	A	G	TTN	c.60623T>C	NM_001267550.2	NP_001254479.2:p.(Ile20208Thr)	NC_000002.11:g.179455829A>G	VUS	1 lab	26be11e77d
19:7120635 INSR T>C	19	7120635	7120635	T	C	INSR	c.3655A>G	NM_000208.4	NP_000199.2:p.(Met1219Val)	NC_000019.9:g.7120635T>C	VUS	1 lab	9a6aef5368
17:17697395 RAI1 G>C	17	17697395	17697395	G	C	RAI1	c.1133G>C	NM_030665.4	NP_109590.3:p.(Ser378Thr)	NC_000017.10:g.17697395G>C	(Likely) benign	1 lab	9a6b3a4182
5:149457820 CSF1R G>A	5	149457820	149457820	G	A	CSF1R	c.593-9C>T	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149457820G>A	(Likely) benign	1 lab	9a6d29f11f
17:2562493 PAFAH1B1 C>T	17	2562493	2562493	C	T	PAFAH1B1	c.33-6173C>T	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2562493C>T	(Likely) benign	1 lab	9a6db75eb7
7:148921148 ZNF282 CGGGGGCGATGGGGGCGGT>C	7	148921148	148921173	CGGGGGCGATGGGGGCGGT	C	ZNF282	c.1433_1450del	NM_003575.4	NP_003566.1:p.(Asp478_Gly483del)	NC_000007.13:g.148921156_148921173del	(Likely) benign	1 lab	9a6dee76cd
1:154163670 TPM3 C>G	1	154163670	154163670	C	G	TPM3	c.235G>C	NM_152263.4	NP_689476.2:p.(Ala79Pro)	NC_000001.10:g.154163670C>G	VUS	1 lab	9a6eaff90d
16:67214417 MATCAP1 G>A	16	67214417	67214417	G	A	MATCAP1	c.97C>T	NM_001040715.2	NP_001035805.1:p.(Arg33Ter)	NC_000016.9:g.67214417G>A	VUS	1 lab	9a6f8e2f45
1:180885768 KIAA1614 C>T	1	180885768	180885768	C	T	KIAA1614	c.529C>T	NM_020950.2	NP_066001.1:p.(Arg177Cys)	NC_000001.10:g.180885768C>T	(Likely) benign	1 lab	9a706a4bc0
2:219480726 PLCD4 A>G	2	219480726	219480726	A	G	PLCD4	c.122A>G	NM_032726.4	NP_116115.1:p.(Gln41Arg)	NC_000002.11:g.219480726A>G	VUS	1 lab	9a715f5381
9:20986265 FOCAD A>ATTTTTTTTTTTTTTTTTTTTT	9	20986265	20986283	A	ATTTTTTTTTTTTTTTTTTTTT	FOCAD	c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTT	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	9a7a51e9de
20:50406966 SALL4 C>T	20	50406966	50406966	C	T	SALL4	c.2056G>A	NM_020436.5	NP_065169.1:p.(Asp686Asn)	NC_000020.10:g.50406966C>T	VUS	1 lab	9a7a787fa6
13:50589646 KCNRG T>C	13	50589646	50589646	T	C	KCNRG	c.17T>C	NM_173605.2	NP_775876.1:p.(Leu6Pro)	NC_000013.10:g.50589646T>C	VUS	1 lab	9a7b5e4020
20:62201923 HELZ2 C>T	20	62201923	62201923	C	T	HELZ2	c.504G>A	NM_001037335.2	NP_001032412.2:p.(Gln168=)	NC_000020.10:g.62201923C>T	VUS	1 lab	9a7b7d805e
1:22446860 WNT4 G>A	1	22446860	22446860	G	A	WNT4	c.739C>T	NM_030761.5	NP_110388.2:p.(Arg247Cys)	NC_000001.10:g.22446860G>A	VUS	1 lab	9a7c5fa484
12:115109965 TBX3 A>T	12	115109965	115109965	A	T	TBX3	c.1853T>A	NM_005996.4	NP_005987.3:p.(Leu618Gln)	NC_000012.11:g.115109965A>T	VUS	1 lab	9a7f1f4325
X:18622179 CDKL5 C>G	X	18622179	18622179	C	G	CDKL5	c.1135C>G	NM_001323289.2	NP_001310218.1:p.(Leu379Val)	NC_000023.10:g.18622179C>G	(Likely) benign	1 lab	9a7fd22492
16:23540813 EARS2 G>A	16	23540813	23540813	G	A	EARS2	c.1352+10C>T	NM_001083614.2	NP_001077083.1:p.?	NC_000016.9:g.23540813G>A	(Likely) benign	1 lab	9a801265dd
7:31013622 GHRHR C>T	7	31013622	31013622	C	T	GHRHR	c.620C>T	NM_000823.4	NP_000814.2:p.(Ala207Val)	NC_000007.13:g.31013622C>T	(Likely) benign	1 lab	9a815afd8e
2:27590958 EIF2B4 C>G	2	27590958	27590958	C	G	EIF2B4	c.639G>C	NM_001034116.2	NP_001029288.1:p.(Gln213His)	NC_000002.11:g.27590958C>G	VUS	1 lab	9a816ac363
4:5754777 EVC G>A	4	5754777	5754777	G	A	EVC	c.1313G>A	NM_153717.3	NP_714928.1:p.(Arg438Gln)	NC_000004.11:g.5754777G>A	(Likely) benign	1 lab	9a81d37510
15:89401835 ACAN G>A	15	89401835	89401835	G	A	ACAN	c.6019G>A	NM_001369268.1	NP_001356197.1:p.(Asp2007Asn)	NC_000015.9:g.89401835G>A	VUS	1 lab	9a824c4df1
3:191888452 FGF12 GA>G	3	191888452	191888465	GA	G	FGF12	c.229-8del	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.191888465del	(Likely) benign	1 lab	9a82ae7a33
12:50474409 ASIC1 A>G	12	50474409	50474409	A	G	ASIC1	c.1297+37A>G	NM_001095.4	NP_001086.2:p.?	NC_000012.11:g.50474409A>G	(Likely) benign	1 lab	9a82aeb706
9:126135542 CRB2 G>A	9	126135542	126135542	G	A	CRB2	c.2732G>A	NM_173689.7	NP_775960.4:p.(Arg911His)	NC_000009.11:g.126135542G>A	VUS	1 lab	9a8314caa9
15:40468759 BUB1B A>G	15	40468759	40468759	A	G	BUB1B	c.466A>G	NM_001211.6	NP_001202.5:p.(Ile156Val)	NC_000015.9:g.40468759A>G	VUS	1 lab	9a84bd1b24
3:49548115 DAG1 A>G	3	49548115	49548115	A	G	DAG1	c.148A>G	NM_004393.6	NP_004384.5:p.(Met50Val)	NC_000003.11:g.49548115A>G	VUS	1 lab	9a85eb8bc5
1:22846775 ZBTB40 T>G	1	22846775	22846775	T	G	ZBTB40	c.3048+7T>G	NM_014870.4	NP_055685.3:p.?	NC_000001.10:g.22846775T>G	(Likely) benign	1 lab	9a8850d39c
14:30135346 PRKD1 C>T	14	30135346	30135346	C	T	PRKD1	c.472G>A	NM_002742.3	NP_002733.2:p.(Ala158Thr)	NC_000014.8:g.30135346C>T	(Likely) benign	1 lab	9a8a889c7c
18:10731413 PIEZO2 G>A	18	10731413	10731413	G	A	PIEZO2	c.5021C>T	NM_001378183.1	NP_001365112.1:p.(Ser1674Phe)	NC_000018.9:g.10731413G>A	(Likely) benign	1 lab	9a8b73863b
12:64178747 RXYLT1 C>T	12	64178747	64178747	C	T	RXYLT1	c.326-3C>T	NM_014254.3	NP_055069.1:p.?	NC_000012.11:g.64178747C>T	(Likely) benign	1 lab	9a8c926c87
17:39969495 FKBP10 A>G	17	39969495	39969495	A	G	FKBP10	c.209A>G	NM_021939.4	NP_068758.3:p.(Asn70Ser)	NC_000017.10:g.39969495A>G	VUS	1 lab	9a8d942d2c
5:154316671 GEMIN5 G>A	5	154316671	154316671	G	A	GEMIN5	c.241C>T	NM_015465.5	NP_056280.2:p.(Leu81Phe)	NC_000005.9:g.154316671G>A	VUS	1 lab	9a8e2f7f7f
19:36212688 KMT2B G>C	19	36212688	36212688	G	C	KMT2B	c.2439G>C	NM_014727.3	NP_055542.1:p.(Lys813Asn)	NC_000019.9:g.36212688G>C	(Likely) benign	1 lab	9a8fd04236
16:54965346 IRX5 TCTC>T	16	54965346	54965352	TCTC	T	IRX5	c.240_242del	NM_005853.6	NP_005844.4:p.(Ser81del)	NC_000016.9:g.54965350_54965352del	VUS	1 lab	9a90710d64
6:129419312 LAMA2 C>T	6	129419312	129419312	C	T	LAMA2	c.397-6C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129419312C>T	VUS	1 lab	9a90c0ce1c
19:56133298 ZNF784 G>T	19	56133298	56133298	G	T	ZNF784	c.791C>A	NM_203374.2	NP_976308.1:p.(Ser264Tyr)	NC_000019.9:g.56133298G>T	VUS	1 lab	9a93641063
10:5498805 NET1 G>A	10	5498805	5498805	G	A	NET1	c.1639G>A	NM_001047160.3	NP_001040625.1:p.(Val547Ile)	NC_000010.10:g.5498805G>A	(Likely) benign	1 lab	9a93d39000
1:21894598 ALPL T>TAA	1	21894598	21894599	T	TAA	ALPL	c.650_651insAA	NM_000478.6	NP_000469.3:p.(Ile218ArgfsTer60)	NC_000001.10:g.21894598_21894599insAA	VUS	1 lab	9a9454e076
19:7172390 INSR C>T	19	7172390	7172390	C	T	INSR	c.1179G>A	NM_000208.4	NP_000199.2:p.(Gly393=)	NC_000019.9:g.7172390C>T	(Likely) benign	1 lab	9a946256dd
13:51961524 INTS6 G>T	13	51961524	51961524	G	T	INTS6	c.892C>A	NM_012141.3	NP_036273.1:p.(Leu298Ile)	NC_000013.10:g.51961524G>T	VUS	1 lab	9a9478e3d5
17:15983762 NCOR1 C>G	17	15983762	15983762	C	G	NCOR1	c.3360G>C	NM_006311.4	NP_006302.2:p.(Glu1120Asp)	NC_000017.10:g.15983762C>G	VUS	1 lab	9a94f8c42e
16:71103339 HYDIN C>T	16	71103339	71103339	C	T	HYDIN	c.1805G>A	NM_001270974.2	NP_001257903.1:p.(Arg602His)	NC_000016.9:g.71103339C>T	VUS	1 lab	9a95e5287e
12:111785422 CUX2 T>TGC	12	111785422	111785423	T	TGC	CUX2	c.3754_3755insGC	NM_015267.4	NP_056082.2:p.(Ser1252CysfsTer22)	NC_000012.11:g.111785422_111785423insGC	(Likely) benign	1 lab	9a97f902a6
16:1575310 IFT140 G>A	16	1575310	1575310	G	A	IFT140	c.2786C>T	NM_014714.4	NP_055529.2:p.(Thr929Met)	NC_000016.9:g.1575310G>A	VUS	1 lab	9b23d0d0ac
1:153789849 GATAD2B G>A	1	153789849	153789849	G	A	GATAD2B	c.899C>T	NM_020699.4	NP_065750.1:p.(Pro300Leu)	NC_000001.10:g.153789849G>A	(Likely) benign	1 lab	9a989d809e
7:129093107 STRIP2 A>G	7	129093107	129093107	A	G	STRIP2	c.449A>G	NM_020704.3	NP_065755.1:p.(His150Arg)	NC_000007.13:g.129093107A>G	(Likely) benign	1 lab	9a98c44556
15:99434567 IGF1R G>A	15	99434567	99434567	G	A	IGF1R	c.654G>A	NM_000875.5	NP_000866.1:p.(Thr218=)	NC_000015.9:g.99434567G>A	(Likely) benign	1 lab	9a9990ef64
15:41224414 DLL4 A>C	15	41224414	41224414	A	C	DLL4	c.704A>C	NM_019074.4	NP_061947.1:p.(Lys235Thr)	NC_000015.9:g.41224414A>C	VUS	1 lab	9a9bc7b77b
5:171765479 SH3PXD2B TCAAA>T	5	171765479	171765485	TCAAA	T	SH3PXD2B	c.2626_2629del	NM_001017995.3	NP_001017995.1:p.(Phe876LysfsTer16)	NC_000005.9:g.171765482_171765485del	VUS	1 lab	9a9c622141
9:139091656 LHX3 C>T	9	139091656	139091656	C	T	LHX3	c.322G>A	NM_178138.6	NP_835258.1:p.(Asp108Asn)	NC_000009.11:g.139091656C>T	VUS	1 lab	9a9fbb50a8
2:152370225 NEB G>A	2	152370225	152370225	G	A	NEB	c.23128-18C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152370225G>A	(Likely) benign	1 lab	9aa14c7ecf
4:55592129 KIT C>T	4	55592129	55592129	C	T	KIT	c.1453C>T	NM_000222.3	NP_000213.1:p.(His485Tyr)	NC_000004.11:g.55592129C>T	(Likely) benign	1 lab	9aa15411c5
1:43895677 SZT2 A>C	1	43895677	43895677	A	C	SZT2	c.4309-5A>C	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43895677A>C	(Likely) benign	1 lab	9aa2b0f446
1:247588411 NLRP3 C>T	1	247588411	247588411	C	T	NLRP3	c.1660C>T	NM_001243133.2	NP_001230062.1:p.(Arg554Ter)	NC_000001.10:g.247588411C>T	(Likely) pathogenic	1 lab	285598adec
7:16460705 CRPPA T>C	7	16460705	16460705	T	C	CRPPA	c.243A>G	NM_001101426.4	NP_001094896.1:p.(Leu81=)	NC_000007.13:g.16460705T>C	(Likely) benign	1 lab	9aa3d17ec7
12:22063250 ABCC9 C>A	12	22063250	22063250	C	A	ABCC9	c.1165-4G>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063250C>A	(Likely) benign	1 lab	9aa5314a95
1:35480456 ZMYM6 G>A	1	35480456	35480456	G	A	ZMYM6	c.637C>T	NM_007167.4	NP_009098.3:p.(His213Tyr)	NC_000001.10:g.35480456G>A	(Likely) benign	1 lab	9aa5da6b9a
19:5831699 FUT6 C>T	19	5831699	5831699	C	T	FUT6	c.880G>A	NM_000150.4	NP_000141.1:p.(Asp294Asn)	NC_000019.9:g.5831699C>T	(Likely) benign	1 lab	9aa641fa2b
2:38301585 CYP1B1 T>A	2	38301585	38301585	T	A	CYP1B1	c.947A>T	NM_000104.4	NP_000095.2:p.(Asp316Val)	NC_000002.11:g.38301585T>A	VUS	1 lab	9aa6715d09
17:40379585 STAT5B G>C	17	40379585	40379585	G	C	STAT5B	c.247C>G	NM_012448.4	NP_036580.2:p.(Leu83Val)	NC_000017.10:g.40379585G>C	VUS	1 lab	9aa6918e01
4:15539652 CC2D2A A>G	4	15539652	15539652	A	G	CC2D2A	c.1895A>G	NM_001378615.1	NP_001365544.1:p.(Gln632Arg)	NC_000004.11:g.15539652A>G	VUS	1 lab	9aa7ef7718
1:22155525 HSPG2 G>T	1	22155525	22155525	G	T	HSPG2	c.12040C>A	NM_005529.7	NP_005520.4:p.(His4014Asn)	NC_000001.10:g.22155525G>T	VUS	1 lab	9aa9997911
11:688450 DEAF1 G>A	11	688450	688450	G	A	DEAF1	c.398C>T	NM_021008.4	NP_066288.2:p.(Thr133Met)	NC_000011.9:g.688450G>A	VUS	1 lab	9aa9cd6f6e
4:151504239 LRBA T>G	4	151504239	151504239	T	G	LRBA	c.6330+4961A>C	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151504239T>G	VUS	1 lab	9aaa81e441
7:44187370 GCK C>T	7	44187370	44187370	C	T	GCK	c.742G>A	NM_000162.5	NP_000153.1:p.(Glu248Lys)	NC_000007.13:g.44187370C>T	(Likely) pathogenic	1 lab	9aaca69e88
16:23383160 SCNN1B G>A	16	23383160	23383160	G	A	SCNN1B	c.1108G>A	NM_000336.3	NP_000327.2:p.(Val370Ile)	NC_000016.9:g.23383160G>A	VUS	1 lab	9aacba696c
14:31849750 HEATR5A G>C	14	31849750	31849750	G	C	HEATR5A	c.1631C>G	NM_015473.4	NP_056288.2:p.(Ser544Cys)	NC_000014.8:g.31849750G>C	VUS	1 lab	9aaed0ddf9
17:10429042 MYH2 C>T	17	10429042	10429042	C	T	MYH2	c.4339G>A	NM_017534.6	NP_060004.3:p.(Ala1447Thr)	NC_000017.10:g.10429042C>T	VUS	1 lab	9ab02834c3
15:90633755 IDH2 G>A	15	90633755	90633755	G	A	IDH2	c.329C>T	NM_002168.4	NP_002159.2:p.(Ala110Val)	NC_000015.9:g.90633755G>A	VUS	1 lab	9ab20c269f
18:44584662 KATNAL2 C>A	18	44584662	44584662	C	A	KATNAL2	c.389C>A	NM_001387690.1	NP_001374619.1:p.(Ser130Tyr)	NC_000018.9:g.44584662C>A	VUS	1 lab	9ab4629713
5:76732211 WDR41 T>TA	5	76732211	76732218	T	TA	WDR41	c.1101dup	NM_018268.4	NP_060738.2:p.(Asn368Ter)	NC_000005.9:g.76732218dup	VUS	1 lab	9ab6380188
19:39017654 RYR1 C>T	19	39017654	39017654	C	T	RYR1	c.10648C>T	NM_000540.3	NP_000531.2:p.(Arg3550Trp)	NC_000019.9:g.39017654C>T	VUS	1 lab	9ab6d0675b
4:79158775 FRAS1 C>T	4	79158775	79158775	C	T	FRAS1	c.216+4C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79158775C>T	(Likely) benign	1 lab	9ab7cf0a07
2:8943125 KIDINS220 C>G	2	8943125	8943125	C	G	KIDINS220	c.736G>C	NM_020738.4	NP_065789.1:p.(Glu246Gln)	NC_000002.11:g.8943125C>G	VUS	1 lab	9ab808dfa8
16:2140944 PKD1 G>A	16	2140944	2140944	G	A	PKD1	c.11944C>T	NM_001009944.3	NP_001009944.3:p.(Gln3982Ter)	NC_000016.9:g.2140944G>A	(Likely) pathogenic	1 lab	9ab8736000
11:77047334 PAK1 A>C	11	77047334	77047334	A	C	PAK1	c.1217-7T>G	NM_002576.5	NP_002567.3:p.?	NC_000011.9:g.77047334A>C	(Likely) benign	1 lab	9abdfc5763
12:121958908 KDM2B G>C	12	121958908	121958908	G	C	KDM2B	c.932-5C>G	NM_032590.5	NP_115979.3:p.?	NC_000012.11:g.121958908G>C	(Likely) benign	1 lab	9ac31f1ba0
6:44107200 TMEM63B GCAGGGA>ACGGGG	6	44107200	44107206	GCAGGGA	ACGGGG	TMEM63B	c.408-4_410delinsACGGGG	NM_018426.3	NP_060896.1:p.?	NC_000006.11:g.44107200_44107206delinsACGGGG	(Likely) benign	1 lab	9ac3ceb1a9
2:8891683 KIDINS220 T>TTGAACTG	2	8891683	8891688	T	TTGAACTG	KIDINS220	c.3102_3103insCAGTTCA	NM_020738.4	NP_065789.1:p.(Arg1035GlnfsTer54)	NC_000002.11:g.8891687_8891688insCTGTGAA	(Likely) pathogenic	1 lab	9ac40d5af9
14:63316502 KCNH5 G>A	14	63316502	63316502	G	A	KCNH5	c.1438C>T	NM_139318.5	NP_647479.2:p.(Arg480Ter)	NC_000014.8:g.63316502G>A	VUS	1 lab	9ac4768f86
7:45960731 IGFBP3 C>T	7	45960731	45960731	C	T	IGFBP3	c.9G>A	NM_000598.5	NP_000589.2:p.(Arg3=)	NC_000007.13:g.45960731C>T	(Likely) benign	1 lab	9b2ca696d1
15:42701568 CAPN3 T>TA	15	42701568	42701569	T	TA	CAPN3	c.1983dup	NM_000070.3	NP_000061.1:p.(Ala662SerfsTer4)	NC_000015.9:g.42701569dup	(Likely) pathogenic	1 lab	9ac5b3a692
2:47635578 MSH2 A>C	2	47635578	47635578	A	C	MSH2	c.250A>C	NM_000251.3	NP_000242.1:p.(Asn84His)	NC_000002.11:g.47635578A>C	VUS	1 lab	9ac71f5873
11:1628956 KRTAP5-3 CTTGCAGCAGCTGGACTGGCAGCAGGATGACCCACAGCCTGAGGAGCAGCAGCAGGGCTTACAGCAGCTGGACTGGGAACAGCAGGGT>C	11	1628956	1629129	CTTGCAGCAGCTGGACTGGCAGCAGGATGACCCACAGCCTGAGGAGCAGCAGCAGGGCTTACAGCAGCTGGACTGGGAACAGCAGGGT	C	KRTAP5-3	c.573_659del	NM_001012708.2	NP_001012726.1:p.(Cys194_Cys222del)	NC_000011.9:g.1629043_1629129del	(Likely) benign	1 lab	9ac9453a1f
19:18900927 COMP C>G	19	18900927	18900927	C	G	COMP	c.218-4G>C	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900927C>G	(Likely) benign	1 lab	9ac9e80338
19:50105006 PRR12 C>A	19	50105006	50105006	C	A	PRR12	c.4604C>A	NM_020719.3	NP_065770.1:p.(Pro1535His)	NC_000019.9:g.50105006C>A	VUS	1 lab	9aca1562b4
2:47698086 MSH2 T>C	2	47698086	47698086	T	C	MSH2	c.1662-18T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47698086T>C	(Likely) benign	1 lab	9acb0063f2
9:133928352 LAMC3 G>T	9	133928352	133928352	G	T	LAMC3	c.1939G>T	NM_006059.4	NP_006050.3:p.(Gly647Cys)	NC_000009.11:g.133928352G>T	VUS	1 lab	9acca11801
13:111156226 COL4A2 G>A	13	111156226	111156226	G	A	COL4A2	c.4171G>A	NM_001846.4	NP_001837.2:p.(Ala1391Thr)	NC_000013.10:g.111156226G>A	(Likely) benign	1 lab	9acd465f78
7:26411423 SNX10 C>CT	7	26411423	26411433	C	CT	SNX10	c.312-8dup	NM_001199835.1	NP_001186764.1:p.?	NC_000007.13:g.26411433dup	(Likely) benign	1 lab	2858ba7371
10:114920423 TCF7L2 G>A	10	114920423	114920423	G	A	TCF7L2	c.1442+672G>A	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114920423G>A	(Likely) benign	1 lab	9ad090a043
11:1643179 KRTAP5-4 A>G	11	1643179	1643179	A	G	KRTAP5-4	c.145T>C	NM_001347674.1	NP_001334603.1:p.(Cys49Arg)	NC_000011.9:g.1643179A>G	(Likely) benign	1 lab	9ad1c73cb4
19:36338924 NPHS1 G>A	19	36338924	36338924	G	A	NPHS1	c.1440+19C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36338924G>A	(Likely) benign	1 lab	2858e57e13
13:26104746 ATP8A2 C>T	13	26104746	26104746	C	T	ATP8A2	c.368C>T	NM_016529.6	NP_057613.4:p.(Pro123Leu)	NC_000013.10:g.26104746C>T	VUS	1 lab	9ad29d6d33
18:47777244 CFAP53 C>T	18	47777244	47777244	C	T	CFAP53	c.880G>A	NM_145020.5	NP_659457.2:p.(Glu294Lys)	NC_000018.9:g.47777244C>T	(Likely) benign	1 lab	26c753c974
19:42860916 MEGF8 C>T	19	42860916	42860916	C	T	MEGF8	c.4623-10C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42860916C>T	(Likely) benign	1 lab	9ad4e7551e
9:108456979 TMEM38B C>G	9	108456979	108456979	C	G	TMEM38B	c.38C>G	NM_018112.3	NP_060582.1:p.(Ser13Cys)	NC_000009.11:g.108456979C>G	VUS	1 lab	9ad703f081
2:33172688 LTBP1 A>ACCG	2	33172688	33172709	A	ACCG	LTBP1	c.316_318dup	NM_206943.4	NP_996826.3:p.(Pro106dup)	NC_000002.11:g.33172707_33172709dup	VUS	1 lab	9ad80cf093
2:230638809 TRIP12 A>G	2	230638809	230638809	A	G	TRIP12	c.5694+4T>C	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230638809A>G	(Likely) benign	1 lab	9ad8b72355
2:220115274 TUBA4A C>T	2	220115274	220115274	C	T	TUBA4A	c.1147G>A	NM_006000.3	NP_005991.1:p.(Ala383Thr)	NC_000002.11:g.220115274C>T	(Likely) pathogenic	1 lab	9ada0357f5
1:152277019 FLG G>T	1	152277019	152277019	G	T	FLG	c.10343C>A	NM_002016.2	NP_002007.1:p.(Ser3448Tyr)	NC_000001.10:g.152277019G>T	(Likely) benign	1 lab	9adac04537
5:161322669 GABRA1 C>T	5	161322669	161322669	C	T	GABRA1	c.857-3C>T	NM_001127644.2	NP_001121116.1:p.?	NC_000005.9:g.161322669C>T	(Likely) benign	1 lab	9adb8fccdc
7:122809330 SLC13A1 G>A	7	122809330	122809330	G	A	SLC13A1	c.425C>T	NM_022444.4	NP_071889.2:p.(Ser142Leu)	NC_000007.13:g.122809330G>A	VUS	1 lab	9aed3f4b2b
9:139701301 CCDC183 G>T	9	139701301	139701301	G	T	CCDC183	c.1371G>T	NM_001039374.5	NP_001034463.4:p.(Met457Ile)	NC_000009.11:g.139701301G>T	(Likely) benign	1 lab	9adceac103
5:176026057 GPRIN1 CTGGG>C	5	176026057	176026061	CTGGG	C	GPRIN1	c.775_778del	NM_052899.3	NP_443131.2:p.(Pro259GlyfsTer22)	NC_000005.9:g.176026058_176026061del	VUS	1 lab	9add8a751f
4:39505562 UGDH G>C	4	39505562	39505562	G	C	UGDH	c.1307C>G	NM_003359.4	NP_003350.1:p.(Ala436Gly)	NC_000004.11:g.39505562G>C	VUS	1 lab	9ae08d8b60
5:92921013 NR2F1 G>T	5	92921013	92921013	G	T	NR2F1	c.284G>T	NM_005654.6	NP_005645.1:p.(Gly95Val)	NC_000005.9:g.92921013G>T	VUS	1 lab	9b35eb658d
2:219920517 IHH C>T	2	219920517	219920517	C	T	IHH	c.648G>A	NM_002181.4	NP_002172.2:p.(Ala216=)	NC_000002.11:g.219920517C>T	(Likely) benign	1 lab	9ae1d47d8b
19:12996311 KLF1 C>T	19	12996311	12996311	C	T	KLF1	c.733G>A	NM_006563.5	NP_006554.1:p.(Gly245Ser)	NC_000019.9:g.12996311C>T	(Likely) benign	1 lab	9ae1e13f6d
4:1805404 FGFR3 GCT>G	4	1805404	1805412	GCT	G	FGFR3	c.931-8_931-7del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1805411_1805412del	(Likely) benign	1 lab	9ae7bda2b3
10:50682109 ERCC6 C>T	10	50682109	50682109	C	T	ERCC6	c.2562G>A	NM_000124.4	NP_000115.1:p.(Gln854=)	NC_000010.10:g.50682109C>T	VUS	1 lab	9ae8b01d2e
8:38318781 FGFR1 A>C	8	38318781	38318781	A	C	FGFR1	c.-88-3729T>G	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38318781A>C	VUS	1 lab	9aea3428ba
15:40661942 DISP2 C>G	15	40661942	40661942	C	G	DISP2	c.3629C>G	NM_033510.3	NP_277045.1:p.(Ala1210Gly)	NC_000015.9:g.40661942C>G	VUS	1 lab	9aea65c91d
22:41542805 EP300 A>G	22	41542805	41542805	A	G	EP300	c.2116A>G	NM_001429.4	NP_001420.2:p.(Ile706Val)	NC_000022.10:g.41542805A>G	VUS	1 lab	9aec73a668
5:79974734 MSH3 A>G	5	79974734	79974734	A	G	MSH3	c.1174-12A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79974734A>G	VUS	1 lab	9aedfd5e6e
22:24181125 DERL3 G>C	22	24181125	24181125	G	C	DERL3	c.50C>G	NM_001002862.3	NP_001002862.1:p.(Thr17Arg)	NC_000022.10:g.24181125G>C	VUS	1 lab	9aee5c086e
2:152586160 NEB T>A	2	152586160	152586160	T	A	NEB	c.47A>T	NM_001164508.2	NP_001157980.2:p.(Glu16Val)	NC_000002.11:g.152586160T>A	VUS	1 lab	9af111ffaa
6:129802537 LAMA2 G>A	6	129802537	129802537	G	A	LAMA2	c.7702G>A	NM_000426.4	NP_000417.3:p.(Gly2568Arg)	NC_000006.11:g.129802537G>A	VUS	1 lab	9af344df21
6:43019508 CUL7 C>T	6	43019508	43019508	C	T	CUL7	c.581-7G>A	NM_014780.5	NP_055595.2:p.?	NC_000006.11:g.43019508C>T	(Likely) benign	1 lab	9af3522e52
5:1414926 SLC6A3 C>T	5	1414926	1414926	C	T	SLC6A3	c.1036G>A	NM_001044.5	NP_001035.1:p.(Ala346Thr)	NC_000005.9:g.1414926C>T	VUS	1 lab	9af481547d
2:20194083 MATN3 T>TA	2	20194083	20194084	T	TA	MATN3	c.1381dup	NM_002381.5	NP_002372.1:p.(Tyr461LeufsTer8)	NC_000002.11:g.20194084dup	VUS	1 lab	9af4bc0029
18:2920888 LPIN2 G>A	18	2920888	2920888	G	A	LPIN2	c.2443-9C>T	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2920888G>A	(Likely) benign	1 lab	9af6be0923
2:170007505 LRP2 G>A	2	170007505	170007505	G	A	LRP2	c.12493C>T	NM_004525.3	NP_004516.2:p.(Arg4165Cys)	NC_000002.11:g.170007505G>A	VUS	1 lab	9af837ca5f
16:2153611 PKD1 A>G	16	2153611	2153611	A	G	PKD1	c.8447T>C	NM_001009944.3	NP_001009944.3:p.(Leu2816Pro)	NC_000016.9:g.2153611A>G	(Likely) pathogenic	1 lab	9af944a386
19:18273859 PIK3R2 G>A	19	18273859	18273859	G	A	PIK3R2	c.1192G>A	NM_005027.4	NP_005018.2:p.(Val398Ile)	NC_000019.9:g.18273859G>A	VUS	1 lab	9af9d12556
9:4118399 GLIS3 G>A	9	4118399	4118399	G	A	GLIS3	c.1079C>T	NM_001042413.2	NP_001035878.1:p.(Pro360Leu)	NC_000009.11:g.4118399G>A	VUS	1 lab	9afb120ce4
2:169869788 ABCB11 C>T	2	169869788	169869788	C	T	ABCB11	c.383G>A	NM_003742.4	NP_003733.2:p.(Arg128His)	NC_000002.11:g.169869788C>T	VUS	1 lab	9afdaf519c
7:142583275 TRPV6 G>A	7	142583275	142583275	G	A	TRPV6	c.107C>T	NM_018646.6	NP_061116.5:p.(Pro36Leu)	NC_000007.13:g.142583275G>A	VUS	1 lab	9afdc5d64f
13:114058852 ADPRHL1 C>T	13	114058852	114058852	C	T	ADPRHL1	c.4745G>A	NM_001394807.1	NP_001381736.1:p.(Gly1582Glu)	NC_000013.10:g.114058852C>T	VUS	1 lab	9b00a5a07f
7:98467462 TMEM130 C>T	7	98467462	98467462	C	T	TMEM130	c.23G>A	NM_152913.3	NP_690877.1:p.(Arg8His)	NC_000007.13:g.98467462C>T	(Likely) benign	1 lab	9b01d8f756
1:152281865 FLG C>T	1	152281865	152281865	C	T	FLG	c.5497G>A	NM_002016.2	NP_002007.1:p.(Val1833Ile)	NC_000001.10:g.152281865C>T	(Likely) benign	1 lab	9b03351b2d
7:99702662 AP4M1 C>T	7	99702662	99702662	C	T	AP4M1	c.674-6C>T	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99702662C>T	(Likely) benign	1 lab	9b03deba62
1:152275523 FLG G>A	1	152275523	152275523	G	A	FLG	c.11839C>T	NM_002016.2	NP_002007.1:p.(Arg3947Cys)	NC_000001.10:g.152275523G>A	(Likely) benign	1 lab	9b045122f2
2:238287558 COL6A3 G>A	2	238287558	238287558	G	A	COL6A3	c.2218C>T	NM_004369.4	NP_004360.2:p.(Arg740Cys)	NC_000002.11:g.238287558G>A	VUS	1 lab	9b04b2f2d8
3:172166174 GHSR CG>C	3	172166174	172166176	CG	C	GHSR	c.29del	NM_198407.2	NP_940799.1:p.(Pro10ArgfsTer128)	NC_000003.11:g.172166176del	(Likely) pathogenic	1 lab	9b051bb98a
22:32222379 DEPDC5 G>C	22	32222379	32222379	G	C	DEPDC5	c.2104+3603G>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32222379G>C	(Likely) benign	1 lab	285b8e95b3
17:2585035 PAFAH1B1 C>T	17	2585035	2585035	C	T	PAFAH1B1	c.1172C>T	NM_000430.4	NP_000421.1:p.(Thr391Met)	NC_000017.10:g.2585035C>T	(Likely) benign	1 lab	9b08594096
2:179414895 TTN C>T	2	179414895	179414895	C	T	TTN	c.91670G>A	NM_001267550.2	NP_001254479.2:p.(Arg30557Gln)	NC_000002.11:g.179414895C>T	VUS	1 lab	9b09be1556
18:77170542 NFATC1 C>T	18	77170542	77170542	C	T	NFATC1	c.267C>T	NM_001278669.2	NP_001265598.1:p.(Tyr89=)	NC_000018.9:g.77170542C>T	(Likely) benign	1 lab	9b0a68f351
2:69586393 GFPT1 T>A	2	69586393	69586393	T	A	GFPT1	c.408+7A>T	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69586393T>A	(Likely) benign	1 lab	9b0c163d14
3:9032320 SRGAP3 C>T	3	9032320	9032320	C	T	SRGAP3	c.2762G>A	NM_014850.4	NP_055665.1:p.(Gly921Asp)	NC_000003.11:g.9032320C>T	VUS	1 lab	9b0c588518
X:132351686 TFDP3 C>T	X	132351686	132351686	C	T	TFDP3	c.602G>A	NM_016521.3	NP_057605.3:p.(Arg201Gln)	NC_000023.10:g.132351686C>T	VUS	1 lab	9b0ef03dc9
2:16086032 MYCN C>T	2	16086032	16086032	C	T	MYCN	c.1208C>T	NM_005378.6	NP_005369.2:p.(Thr403Met)	NC_000002.11:g.16086032C>T	(Likely) benign	1 lab	9b0f356bb3
20:62103795 KCNQ2 C>G	20	62103795	62103795	C	G	KCNQ2	c.22G>C	NM_172107.4	NP_742105.1:p.(Gly8Arg)	NC_000020.10:g.62103795C>G	VUS	1 lab	9b0f555b0f
19:15271630 NOTCH3 G>A	19	15271630	15271630	G	A	NOTCH3	c.6809C>T	NM_000435.3	NP_000426.2:p.(Thr2270Met)	NC_000019.9:g.15271630G>A	(Likely) benign	1 lab	9b10cd8bf3
19:34942872 UBA2 A>ATT	19	34942872	34942879	A	ATT	UBA2	c.872-8_872-7dup	NM_005499.3	NP_005490.1:p.?	NC_000019.9:g.34942878_34942879dup	VUS	1 lab	9b11557352
16:2224339 TRAF7 GTCCAGGCACATGTGTGATCAGTGAT>G	16	2224339	2224367	GTCCAGGCACATGTGTGATCAGTGAT	G	TRAF7	c.1346+9_1346+33del	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2224343_2224367del	(Likely) benign	1 lab	9b1212b7be
7:157208772 DNAJB6 T>C	7	157208772	157208772	T	C	DNAJB6	c.961T>C	NM_058246.4	NP_490647.1:p.(Ser321Pro)	NC_000007.13:g.157208772T>C	(Likely) benign	1 lab	9b14b9c688
19:15290905 NOTCH3 T>A	19	15290905	15290905	T	A	NOTCH3	c.3305A>T	NM_000435.3	NP_000426.2:p.(Tyr1102Phe)	NC_000019.9:g.15290905T>A	VUS	1 lab	9b14bea302
13:111293947 CARS2 G>T	13	111293947	111293947	G	T	CARS2	c.1632C>A	NM_024537.4	NP_078813.1:p.(Ser544Arg)	NC_000013.10:g.111293947G>T	(Likely) benign	1 lab	9b1659f7f3
15:63926969 HERC1 T>A	15	63926969	63926969	T	A	HERC1	c.12533A>T	NM_003922.4	NP_003913.3:p.(Glu4178Val)	NC_000015.9:g.63926969T>A	VUS	1 lab	9b165b433b
16:68721433 CDH3 G>T	16	68721433	68721433	G	T	CDH3	c.1589G>T	NM_001793.6	NP_001784.2:p.(Gly530Val)	NC_000016.9:g.68721433G>T	VUS	1 lab	9b16627678
2:36706765 CRIM1 G>A	2	36706765	36706765	G	A	CRIM1	c.1300G>A	NM_016441.3	NP_057525.1:p.(Val434Ile)	NC_000002.11:g.36706765G>A	VUS	1 lab	9b18293601
22:50671932 TUBGCP6 G>C	22	50671932	50671932	G	C	TUBGCP6	c.929C>G	NM_020461.4	NP_065194.3:p.(Pro310Arg)	NC_000022.10:g.50671932G>C	(Likely) benign	1 lab	9b199281df
3:129325394 PLXND1 G>A	3	129325394	129325394	G	A	PLXND1	c.89C>T	NM_015103.3	NP_055918.3:p.(Pro30Leu)	NC_000003.11:g.129325394G>A	VUS	1 lab	26cc859a69
2:162891789 DPP4 C>T	2	162891789	162891789	C	T	DPP4	c.659G>A	NM_001935.4	NP_001926.2:p.(Gly220Asp)	NC_000002.11:g.162891789C>T	VUS	1 lab	9b1b004284
10:73498248 CDH23 C>T	10	73498248	73498248	C	T	CDH23	c.4210-7C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73498248C>T	(Likely) benign	1 lab	9b1c012eee
7:91871391 KRIT1 G>A	7	91871391	91871391	G	A	KRIT1	c.59C>T	NM_194454.3	NP_919436.1:p.(Thr20Ile)	NC_000007.13:g.91871391G>A	VUS	1 lab	9b1de594d6
2:96780804 ADRA2B C>T	2	96780804	96780804	C	T	ADRA2B	c.1094G>A	NM_000682.7	NP_000673.2:p.(Arg365Gln)	NC_000002.11:g.96780804C>T	VUS	1 lab	9b1eafe2ed
1:156084720 LMNA C>A	1	156084720	156084720	C	A	LMNA	c.11C>A	NM_170707.4	NP_733821.1:p.(Pro4Gln)	NC_000001.10:g.156084720C>A	(Likely) pathogenic	1 lab	9b1ef1bbf2
17:10542934 MYH3 A>C	17	10542934	10542934	A	C	MYH3	c.2868T>G	NM_002470.4	NP_002461.2:p.(Asp956Glu)	NC_000017.10:g.10542934A>C	VUS	1 lab	9b1f39f110
19:46914770 CCDC8 C>T	19	46914770	46914770	C	T	CCDC8	c.1298G>A	NM_032040.5	NP_114429.2:p.(Arg433Gln)	NC_000019.9:g.46914770C>T	(Likely) benign	1 lab	9b218d32a0
5:126121814 LMNB1 T>TTG	5	126121814	126121816	T	TTG	LMNB1	c.359+8256_359+8257insGT	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126121815_126121816insGT	(Likely) benign	1 lab	9b235d5525
2:189859002 COL3A1 C>T	2	189859002	189859002	C	T	COL3A1	c.1237C>T	NM_000090.4	NP_000081.2:p.(Arg413Trp)	NC_000002.11:g.189859002C>T	VUS	1 lab	9b23784c8b
2:196741326 DNAH7 A>G	2	196741326	196741326	A	G	DNAH7	c.6059T>C	NM_018897.3	NP_061720.2:p.(Met2020Thr)	NC_000002.11:g.196741326A>G	(Likely) benign	1 lab	9b27323865
10:123325065 FGFR2 A>G	10	123325065	123325065	A	G	FGFR2	c.263T>C	NM_000141.5	NP_000132.3:p.(Ile88Thr)	NC_000010.10:g.123325065A>G	(Likely) benign	1 lab	9b27aff99d
11:71945564 INPPL1 A>C	11	71945564	71945564	A	C	INPPL1	c.2327-7A>C	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71945564A>C	(Likely) benign	1 lab	9b27e2ca1a
5:36985963 NIPBL G>A	5	36985963	36985963	G	A	NIPBL	c.2681G>A	NM_133433.4	NP_597677.2:p.(Arg894His)	NC_000005.9:g.36985963G>A	VUS	1 lab	9b2999e0aa
17:79620187 PDE6G T>C	17	79620187	79620187	T	C	PDE6G	c.146+3A>G	NM_002602.4	NP_002593.1:p.?	NC_000017.10:g.79620187T>C	(Likely) benign	1 lab	9b2a145b64
8:42044954 PLAT G>A	8	42044954	42044954	G	A	PLAT	c.501C>T	NM_000930.5	NP_000921.1:p.(Asp167=)	NC_000008.10:g.42044954G>A	(Likely) benign	1 lab	26d09280dc
9:14759789 FREM1 G>A	9	14759789	14759789	G	A	FREM1	c.5315C>T	NM_001379081.2	NP_001366010.1:p.(Ser1772Leu)	NC_000009.11:g.14759789G>A	VUS	1 lab	9b2bba676b
17:29298266 RNF135 TG>T	17	29298266	29298267	TG	T	RNF135	c.176del	NM_032322.4	NP_115698.3:p.(Cys59SerfsTer69)	NC_000017.10:g.29298267del	VUS	1 lab	9b2c9b89a2
16:1265585 CACNA1H C>G	16	1265585	1265585	C	G	CACNA1H	c.5236C>G	NM_021098.3	NP_066921.2:p.(Leu1746Val)	NC_000016.9:g.1265585C>G	VUS	1 lab	9b2cae2faf
14:74179992 PNMA1 T>G	14	74179992	74179992	T	G	PNMA1	c.351A>C	NM_006029.5	NP_006020.4:p.(Gln117His)	NC_000014.8:g.74179992T>G	VUS	1 lab	9b2f33f0ca
11:66466530 SPTBN2 G>C	11	66466530	66466530	G	C	SPTBN2	c.3800C>G	NM_006946.4	NP_008877.2:p.(Ala1267Gly)	NC_000011.9:g.66466530G>C	VUS	1 lab	9b2f454ae6
15:93470519 CHD2 C>T	15	93470519	93470519	C	T	CHD2	c.340C>T	NM_001271.4	NP_001262.3:p.(Arg114Ter)	NC_000015.9:g.93470519C>T	VUS	1 lab	9b3004f2a9
16:70867880 HYDIN T>A	16	70867880	70867880	T	A	HYDIN	c.13589A>T	NM_001270974.2	NP_001257903.1:p.(Asp4530Val)	NC_000016.9:g.70867880T>A	VUS	1 lab	9b37f631d5
11:61724433 BEST1 G>A	11	61724433	61724433	G	A	BEST1	c.599G>A	NM_004183.4	NP_004174.1:p.(Arg200Gln)	NC_000011.9:g.61724433G>A	VUS	1 lab	9b384d3814
9:139402572 NOTCH1 C>A	9	139402572	139402572	C	A	NOTCH1	c.3345G>T	NM_017617.5	NP_060087.3:p.(Leu1115=)	NC_000009.11:g.139402572C>A	(Likely) benign	1 lab	286799ab39
1:155207203 GBA1 T>C	1	155207203	155207203	T	C	GBA1	c.928A>G	NM_001005741.3	NP_001005741.1:p.(Ser310Gly)	NC_000001.10:g.155207203T>C	VUS	1 lab	26d39266d5
22:41565548 EP300 G>A	22	41565548	41565548	G	A	EP300	c.4214G>A	NM_001429.4	NP_001420.2:p.(Arg1405His)	NC_000022.10:g.41565548G>A	(Likely) benign	1 lab	9b39ce3de1
15:45430210 DUOX1 G>A	15	45430210	45430210	G	A	DUOX1	c.1111G>A	NM_175940.3	NP_787954.1:p.(Glu371Lys)	NC_000015.9:g.45430210G>A	VUS	1 lab	9b3b1f4eba
2:196749328 DNAH7 T>A	2	196749328	196749328	T	A	DNAH7	c.5744A>T	NM_018897.3	NP_061720.2:p.(Asp1915Val)	NC_000002.11:g.196749328T>A	(Likely) benign	1 lab	9b3b3cce6c
7:151849792 KMT2C T>C	7	151849792	151849792	T	C	KMT2C	c.12524A>G	NM_170606.3	NP_733751.2:p.(Asn4175Ser)	NC_000007.13:g.151849792T>C	(Likely) benign	1 lab	9b3d7489c7
2:44175548 LRPPRC T>G	2	44175548	44175548	T	G	LRPPRC	c.1842+3A>C	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44175548T>G	VUS	1 lab	9b3d9d6608
9:131394991 SPTAN1 C>T	9	131394991	131394991	C	T	SPTAN1	c.7154C>T	NM_001130438.3	NP_001123910.1:p.(Pro2385Leu)	NC_000009.11:g.131394991C>T	VUS	1 lab	9b3e3726ea
15:75655069 MAN2C1 C>T	15	75655069	75655069	C	T	MAN2C1	c.811G>A	NM_006715.4	NP_006706.2:p.(Glu271Lys)	NC_000015.9:g.75655069C>T	VUS	1 lab	9b3efa46ea
18:55996301 NEDD4L G>T	18	55996301	55996301	G	T	NEDD4L	c.755G>T	NM_001144967.3	NP_001138439.1:p.(Arg252Leu)	NC_000018.9:g.55996301G>T	VUS	1 lab	9b3f1047e7
17:30349328 LRRC37B A>C	17	30349328	30349328	A	C	LRRC37B	c.917A>C	NM_001321350.2	NP_001308279.1:p.(Asp306Ala)	NC_000017.10:g.30349328A>C	(Likely) benign	1 lab	9b3fa478e3
8:139603692 COL22A1 G>A	8	139603692	139603692	G	A	COL22A1	c.4668C>T	NM_152888.3	NP_690848.1:p.(Gly1556=)	NC_000008.10:g.139603692G>A	VUS	1 lab	9b40fd40df
2:179536884 TTN C>T	2	179536884	179536884	C	T	TTN	c.35041G>A	NM_001267550.2	NP_001254479.2:p.(Glu11681Lys)	NC_000002.11:g.179536884C>T	VUS	1 lab	9b41f1a609
18:28993451 DSG4 A>G	18	28993451	28993451	A	G	DSG4	c.3016A>G	NM_177986.5	NP_817123.1:p.(Met1006Val)	NC_000018.9:g.28993451A>G	(Likely) benign	1 lab	9b421400f7
8:144991599 PLEC C>T	8	144991599	144991599	C	T	PLEC	c.12390G>A	NM_201384.3	NP_958786.1:p.(Thr4130=)	NC_000008.10:g.144991599C>T	(Likely) benign	1 lab	9b42cd2607
1:120469232 NOTCH2 G>A	1	120469232	120469232	G	A	NOTCH2	c.3895C>T	NM_024408.4	NP_077719.2:p.(Arg1299Trp)	NC_000001.10:g.120469232G>A	VUS	1 lab	9b4340918b
X:137793426 FGF13 C>G	X	137793426	137793426	C	G	FGF13	c.-261G>C	NM_004114.5	NP_004105.1:p.?	NC_000023.10:g.137793426C>G	VUS	1 lab	9b43b9e1e4
3:16343238 OXNAD1 G>A	3	16343238	16343238	G	A	OXNAD1	c.538G>A	NM_138381.5	NP_612390.1:p.(Gly180Arg)	NC_000003.11:g.16343238G>A	(Likely) benign	1 lab	9b46d134c4
2:233243909 ALPP GG>AA	2	233243909	233243910	GG	AA	ALPP	c.194-1_194delinsAA	NM_001632.5	NP_001623.3:p.?	NC_000002.11:g.233243909_233243910delinsAA	VUS	1 lab	9b47966236
X:18936859 PHKA2 T>C	X	18936859	18936859	T	C	PHKA2	c.2077A>G	NM_000292.3	NP_000283.1:p.(Ile693Val)	NC_000023.10:g.18936859T>C	(Likely) benign	1 lab	9b490f0423
10:135111618 TUBGCP2 A>C	10	135111618	135111618	A	C	TUBGCP2	c.457-3T>G	NM_006659.4	NP_006650.1:p.?	NC_000010.10:g.135111618A>C	VUS	1 lab	9b4c07ac68
15:55789910 DNAAF4 C>T	15	55789910	55789910	C	T	DNAAF4	c.271G>A	NM_130810.4	NP_570722.2:p.(Val91Ile)	NC_000015.9:g.55789910C>T	(Likely) benign	1 lab	9b4c910c80
4:88979231 PKD2 G>T	4	88979231	88979231	G	T	PKD2	c.1995G>T	NM_000297.4	NP_000288.1:p.(Val665=)	NC_000004.11:g.88979231G>T	(Likely) benign	1 lab	9b4cdcc433
17:57148256 TRIM37 A>G	17	57148256	57148256	A	G	TRIM37	c.737T>C	NM_015294.6	NP_056109.1:p.(Met246Thr)	NC_000017.10:g.57148256A>G	(Likely) benign	1 lab	9b4d77daef
18:31250631 ASXL3 T>C	18	31250631	31250631	T	C	ASXL3	c.478-6T>C	NM_030632.3	NP_085135.1:p.?	NC_000018.9:g.31250631T>C	(Likely) benign	1 lab	9b4df8398e
2:28752192 PLB1 G>C	2	28752192	28752192	G	C	PLB1	c.334G>C	NM_153021.5	NP_694566.4:p.(Asp112His)	NC_000002.11:g.28752192G>C	VUS	1 lab	9b4dfd63d9
19:38976332 RYR1 C>G	19	38976332	38976332	C	G	RYR1	c.5037C>G	NM_000540.3	NP_000531.2:p.(Arg1679=)	NC_000019.9:g.38976332C>G	(Likely) benign	1 lab	9b4f1bb08b
9:34259654 KIF24 T>C	9	34259654	34259654	T	C	KIF24	c.1565A>G	NM_194313.4	NP_919289.2:p.(Asn522Ser)	NC_000009.11:g.34259654T>C	VUS	1 lab	9b4f623c36
9:94486074 ROR2 G>A	9	94486074	94486074	G	A	ROR2	c.2702C>T	NM_004560.4	NP_004551.2:p.(Pro901Leu)	NC_000009.11:g.94486074G>A	VUS	1 lab	9b50033131
20:62178513 SRMS C>T	20	62178513	62178513	C	T	SRMS	c.304G>A	NM_080823.4	NP_543013.1:p.(Val102Met)	NC_000020.10:g.62178513C>T	(Likely) benign	1 lab	9b50d16fcd
1:152195728 HRNR ATT>A	1	152195728	152195739	ATT	A	HRNR	c.-1_1del	NM_001009931.3	NP_001009931.1:p.(Met1?)	NC_000001.10:g.152195738_152195739del	VUS	1 lab	9b520f0430
19:460729 SHC2 G>A	19	460729	460729	G	A	SHC2	c.268C>T	NM_012435.3	NP_036567.2:p.(Pro90Ser)	NC_000019.9:g.460729G>A	VUS	1 lab	9b523f70e1
7:94252654 SGCE T>G	7	94252654	94252654	T	G	SGCE	c.446A>C	NM_003919.3	NP_003910.1:p.(Asn149Thr)	NC_000007.13:g.94252654T>G	VUS	1 lab	9b5316dba4
11:108124595 ATM A>G	11	108124595	108124595	A	G	ATM	c.1953A>G	NM_000051.4	NP_000042.3:p.(Leu651=)	NC_000011.9:g.108124595A>G	(Likely) benign	1 lab	9b5645906f
4:123122188 BLTP1 C>T	4	123122188	123122188	C	T	BLTP1	c.1405C>T	NM_001384125.1	NP_001371054.1:p.(Arg469Ter)	NC_000004.11:g.123122188C>T	VUS	1 lab	9b580a671e
11:692166 DEAF1 C>T	11	692166	692166	C	T	DEAF1	c.290-568G>A	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.692166C>T	(Likely) benign	1 lab	9b588835b9
22:51158701 SHANK3 C>T	22	51158701	51158701	C	T	SHANK3	c.2665C>T	NM_001372044.2	NP_001358973.1:p.(Pro889Ser)	NC_000022.10:g.51158701C>T	(Likely) benign	1 lab	9b58d513cd
X:152159895 PNMA5 G>C	X	152159895	152159895	G	C	PNMA5	c.248C>G	NM_001184924.2	NP_001171853.1:p.(Pro83Arg)	NC_000023.10:g.152159895G>C	(Likely) benign	1 lab	9b590f01e2
21:34922736 SON C>T	21	34922736	34922736	C	T	SON	c.1199C>T	NM_138927.4	NP_620305.3:p.(Thr400Ile)	NC_000021.8:g.34922736C>T	VUS	1 lab	9b592efb85
19:37838097 ZNF875 C>T	19	37838097	37838097	C	T	ZNF875	c.39C>T	NM_001353803.2	NP_001340732.1:p.(Phe13=)	NC_000019.9:g.37838097C>T	VUS	1 lab	9b5a130feb
11:107427622 ALKBH8 G>C	11	107427622	107427622	G	C	ALKBH8	c.237C>G	NM_138775.3	NP_620130.2:p.(Asn79Lys)	NC_000011.9:g.107427622G>C	VUS	1 lab	9b5b3d72e7
1:40775788 COL9A2 G>T	1	40775788	40775788	G	T	COL9A2	c.787C>A	NM_001852.4	NP_001843.1:p.(Pro263Thr)	NC_000001.10:g.40775788G>T	(Likely) benign	1 lab	9b5b6c53cf
11:66472196 SPTBN2 C>G	11	66472196	66472196	C	G	SPTBN2	c.2551G>C	NM_006946.4	NP_008877.2:p.(Ala851Pro)	NC_000011.9:g.66472196C>G	VUS	1 lab	9b5bb22c38
9:80942968 PSAT1 T>C	9	80942968	80942968	T	C	PSAT1	c.871T>C	NM_058179.4	NP_478059.1:p.(Cys291Arg)	NC_000009.11:g.80942968T>C	VUS	1 lab	9b5dae6569
6:139456757 HECA ACGCTGCGGC>A	6	139456757	139456769	ACGCTGCGGC	A	HECA	c.228_236del	NM_016217.3	NP_057301.1:p.(Ala78_Ala80del)	NC_000006.11:g.139456761_139456769del	VUS	1 lab	9b5db86874
15:89401397 ACAN G>A	15	89401397	89401397	G	A	ACAN	c.5581G>A	NM_001369268.1	NP_001356197.1:p.(Gly1861Arg)	NC_000015.9:g.89401397G>A	VUS	1 lab	9b5f74506f
15:49254951 SHC4 G>A	15	49254951	49254951	G	A	SHC4	c.262C>T	NM_203349.4	NP_976224.3:p.(Pro88Ser)	NC_000015.9:g.49254951G>A	VUS	1 lab	9b5ffdb9e4
5:89975306 ADGRV1 A>G	5	89975306	89975306	A	G	ADGRV1	c.5444-60A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975306A>G	(Likely) benign	1 lab	286a249f85
16:2136325 TSC2 C>G	16	2136325	2136325	C	G	TSC2	c.4794C>G	NM_000548.5	NP_000539.2:p.(Asp1598Glu)	NC_000016.9:g.2136325C>G	VUS	1 lab	9b6015a9bf
10:82033560 MAT1A C>A	10	82033560	82033560	C	A	MAT1A	c.1165G>T	NM_000429.3	NP_000420.1:p.(Val389Phe)	NC_000010.10:g.82033560C>A	VUS	1 lab	9b6379b91a
2:160028662 TANC1 C>T	2	160028662	160028662	C	T	TANC1	c.1382C>T	NM_033394.3	NP_203752.2:p.(Thr461Ile)	NC_000002.11:g.160028662C>T	VUS	1 lab	9b6444c19e
15:89876595 POLGARF A>G	15	89876595	89876595	A	G	POLGARF	c.446T>C	NM_001430120.1	NP_001417049.1:p.(Leu149Pro)	NC_000015.9:g.89876595A>G	VUS	1 lab	9b65efc346
15:89400245 ACAN C>G	15	89400245	89400245	C	G	ACAN	c.4429C>G	NM_001369268.1	NP_001356197.1:p.(Leu1477Val)	NC_000015.9:g.89400245C>G	(Likely) benign	1 lab	9b6613bf11
X:106882518 PRPS1 A>C	X	106882518	106882518	A	C	PRPS1	c.123-7A>C	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106882518A>C	(Likely) benign	1 lab	9b661bc06d
16:57295927 PLLP G>A	16	57295927	57295927	G	A	PLLP	c.191C>T	NM_015993.3	NP_057077.1:p.(Pro64Leu)	NC_000016.9:g.57295927G>A	(Likely) benign	1 lab	9b6623684c
15:41797248 LTK C>T	15	41797248	41797248	C	T	LTK	c.1940G>A	NM_002344.6	NP_002335.2:p.(Arg647Gln)	NC_000015.9:g.41797248C>T	VUS	1 lab	9b67b286a3
11:66259187 DPP3 G>C	11	66259187	66259187	G	C	DPP3	c.948G>C	NM_130443.4	NP_569710.2:p.(Glu316Asp)	NC_000011.9:g.66259187G>C	VUS	1 lab	9b68a4adeb
19:4123845 MAP2K2 G>C	19	4123845	4123845	G	C	MAP2K2	c.28C>G	NM_030662.4	NP_109587.1:p.(Pro10Ala)	NC_000019.9:g.4123845G>C	VUS	1 lab	9b6965303b
7:44197673 GCK T>G	7	44197673	44197673	T	G	GCK	c.46-4611A>C	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44197673T>G	(Likely) benign	1 lab	9b6a8cfb10
9:5090745 JAK2 G>A	9	5090745	5090745	G	A	JAK2	c.2893G>A	NM_001322194.2	NP_001309123.1:p.(Glu965Lys)	NC_000009.11:g.5090745G>A	VUS	1 lab	26d3b90400
1:22181895 HSPG2 C>T	1	22181895	22181895	C	T	HSPG2	c.5899G>A	NM_005529.7	NP_005520.4:p.(Val1967Ile)	NC_000001.10:g.22181895C>T	(Likely) benign	1 lab	9b6b9d435d
15:91419740 FURIN G>A	15	91419740	91419740	G	A	FURIN	c.325G>A	NM_002569.4	NP_002560.1:p.(Val109Met)	NC_000015.9:g.91419740G>A	(Likely) benign	1 lab	9b6f309983
4:6599928 MAN2B2 C>A	4	6599928	6599928	C	A	MAN2B2	c.1252C>A	NM_015274.3	NP_056089.1:p.(Gln418Lys)	NC_000004.11:g.6599928C>A	(Likely) benign	1 lab	9b707c5661
6:132206094 ENPP1 A>C	6	132206094	132206094	A	C	ENPP1	c.2335A>C	NM_006208.3	NP_006199.2:p.(Thr779Pro)	NC_000006.11:g.132206094A>C	(Likely) benign	1 lab	9b7172555d
11:6411935 SMPD1 T>TGCTGGC	11	6411935	6411971	T	TGCTGGC	SMPD1	c.138_143dup	NM_000543.5	NP_000534.3:p.(Ala48_Leu49dup)	NC_000011.9:g.6411966_6411971dup	VUS	1 lab	9b71810a21
11:76905559 MYO7A C>T	11	76905559	76905559	C	T	MYO7A	c.4313C>T	NM_000260.4	NP_000251.3:p.(Ala1438Val)	NC_000011.9:g.76905559C>T	VUS	1 lab	9b73086ec5
4:77662411 SHROOM3 G>A	4	77662411	77662411	G	A	SHROOM3	c.3085G>A	NM_020859.4	NP_065910.3:p.(Val1029Met)	NC_000004.11:g.77662411G>A	VUS	1 lab	9b7394d443
10:5498583 NET1 C>T	10	5498583	5498583	C	T	NET1	c.1417C>T	NM_001047160.3	NP_001040625.1:p.(Pro473Ser)	NC_000010.10:g.5498583C>T	VUS	1 lab	9b739d7636
8:1950988 KBTBD11 C>T	8	1950988	1950988	C	T	KBTBD11	c.1630C>T	NM_014867.3	NP_055682.1:p.(Pro544Ser)	NC_000008.10:g.1950988C>T	(Likely) benign	1 lab	9b75d6f2d2
17:77709064 ENPP7 G>A	17	77709064	77709064	G	A	ENPP7	c.622G>A	NM_178543.5	NP_848638.3:p.(Glu208Lys)	NC_000017.10:g.77709064G>A	VUS	1 lab	9b76394577
4:79385208 FRAS1 T>C	4	79385208	79385208	T	C	FRAS1	c.6797T>C	NM_025074.7	NP_079350.5:p.(Leu2266Pro)	NC_000004.11:g.79385208T>C	VUS	1 lab	9b76460a6d
4:47682191 CORIN C>T	4	47682191	47682191	C	T	CORIN	c.1099G>A	NM_006587.4	NP_006578.2:p.(Asp367Asn)	NC_000004.11:g.47682191C>T	VUS	1 lab	9b769c05be
14:29236886 FOXG1 C>G	14	29236886	29236886	C	G	FOXG1	c.401C>G	NM_005249.5	NP_005240.3:p.(Pro134Arg)	NC_000014.8:g.29236886C>G	(Likely) benign	1 lab	9b7838eb4d
18:20548818 RBBP8 C>T	18	20548818	20548818	C	T	RBBP8	c.298C>T	NM_002894.3	NP_002885.1:p.(Arg100Trp)	NC_000018.9:g.20548818C>T	VUS	1 lab	9b788271bf
1:171607739 MYOC G>T	1	171607739	171607739	G	T	MYOC	c.728C>A	NM_000261.2	NP_000252.1:p.(Thr243Asn)	NC_000001.10:g.171607739G>T	(Likely) benign	1 lab	9b78c61450
17:73602024 MYO15B A>G	17	73602024	73602024	A	G	MYO15B	c.4214A>G	NM_001395058.1	NP_001381987.1:p.(His1405Arg)	NC_000017.10:g.73602024A>G	VUS	1 lab	9b79bf60a3
X:152612453 ZNF275 A>T	X	152612453	152612453	A	T	ZNF275	c.310A>T	NM_001367757.1	NP_001354686.1:p.(Lys104Ter)	NC_000023.10:g.152612453A>T	VUS	1 lab	9b79d6e6e8
14:89341460 TTC8 T>C	14	89341460	89341460	T	C	TTC8	c.1431+7T>C	NM_144596.4	NP_653197.2:p.?	NC_000014.8:g.89341460T>C	(Likely) benign	1 lab	9b7cf3b350
11:73844552 C2CD3 T>C	11	73844552	73844552	T	C	C2CD3	c.1006A>G	NM_001286577.2	NP_001273506.1:p.(Met336Val)	NC_000011.9:g.73844552T>C	VUS	1 lab	9b7d885cac
6:33756893 LEMD2 T>G	6	33756893	33756893	T	G	LEMD2	c.1A>C	NM_181336.4	NP_851853.1:p.(Met1?)	NC_000006.11:g.33756893T>G	VUS	1 lab	9b7db2e864
7:121732938 AASS C>T	7	121732938	121732938	C	T	AASS	c.1834G>A	NM_005763.4	NP_005754.2:p.(Ala612Thr)	NC_000007.13:g.121732938C>T	VUS	1 lab	9b7de89efc
2:219674450 CYP27A1 C>A	2	219674450	219674450	C	A	CYP27A1	c.406C>A	NM_000784.4	NP_000775.1:p.(His136Asn)	NC_000002.11:g.219674450C>A	VUS	1 lab	9b7ed17cdd
14:94044294 UNC79 G>A	14	94044294	94044294	G	A	UNC79	c.2318G>A	NM_001395159.1	NP_001382088.1:p.(Arg773His)	NC_000014.8:g.94044294G>A	(Likely) benign	1 lab	9b7ed4cca9
22:19504140 CDC45 C>T	22	19504140	19504140	C	T	CDC45	c.1531C>T	NM_003504.5	NP_003495.1:p.(Pro511Ser)	NC_000022.10:g.19504140C>T	VUS	1 lab	9b7ef02ecc
2:74274378 TET3 C>T	2	74274378	74274378	C	T	TET3	c.1334C>T	NM_001287491.2	NP_001274420.1:p.(Thr445Met)	NC_000002.11:g.74274378C>T	VUS	1 lab	26d6d52f26
17:40854983 EZH1 C>A	17	40854983	40854983	C	A	EZH1	c.2099-4G>T	NM_001991.5	NP_001982.2:p.?	NC_000017.10:g.40854983C>A	VUS	1 lab	9b804a2914
5:37045576 NIPBL A>C	5	37045576	37045576	A	C	NIPBL	c.6375A>C	NM_133433.4	NP_597677.2:p.(Gln2125His)	NC_000005.9:g.37045576A>C	VUS	1 lab	9b805793ba
11:4148338 RRM1 T>A	11	4148338	4148338	T	A	RRM1	c.1544T>A	NM_001033.5	NP_001024.1:p.(Met515Lys)	NC_000011.9:g.4148338T>A	VUS	1 lab	9b80d93148
16:58622801 CNOT1 G>A	16	58622801	58622801	G	A	CNOT1	c.112C>T	NM_016284.5	NP_057368.3:p.(Arg38Trp)	NC_000016.9:g.58622801G>A	VUS	1 lab	9b8124bec1
6:143095616 HIVEP2 T>A	6	143095616	143095616	T	A	HIVEP2	c.260A>T	NM_006734.4	NP_006725.3:p.(His87Leu)	NC_000006.11:g.143095616T>A	(Likely) benign	1 lab	9b81570850
7:193254 FAM20C G>T	7	193254	193254	G	T	FAM20C	c.55G>T	NM_020223.4	NP_064608.2:p.(Val19Leu)	NC_000007.13:g.193254G>T	(Likely) benign	1 lab	9b81913c13
13:100921016 PCCA A>G	13	100921016	100921016	A	G	PCCA	c.893A>G	NM_000282.4	NP_000273.2:p.(Lys298Arg)	NC_000013.10:g.100921016A>G	(Likely) pathogenic	1 lab	9b84550b8f
8:118812019 EXT1 C>T	8	118812019	118812019	C	T	EXT1	c.2173G>A	NM_000127.3	NP_000118.2:p.(Asp725Asn)	NC_000008.10:g.118812019C>T	VUS	1 lab	9b847adfa8
13:32863763 FRY T>G	13	32863763	32863763	T	G	FRY	c.8470-7T>G	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32863763T>G	(Likely) benign	1 lab	9b84ecc66f
3:133485223 TF G>A	3	133485223	133485223	G	A	TF	c.1432G>A	NM_001063.4	NP_001054.2:p.(Gly478Ser)	NC_000003.11:g.133485223G>A	VUS	1 lab	26d8d2543d
17:48274406 COL1A1 C>T	17	48274406	48274406	C	T	COL1A1	c.769G>A	NM_000088.4	NP_000079.2:p.(Gly257Arg)	NC_000017.10:g.48274406C>T	(Likely) pathogenic	1 lab	9b86e01547
6:116442496 COL10A1 T>G	6	116442496	116442496	T	G	COL10A1	c.783A>C	NM_000493.4	NP_000484.2:p.(Glu261Asp)	NC_000006.11:g.116442496T>G	(Likely) benign	1 lab	9b8712a92e
14:64408806 SYNE2 A>T	14	64408806	64408806	A	T	SYNE2	c.353A>T	NM_182914.3	NP_878918.2:p.(Asp118Val)	NC_000014.8:g.64408806A>T	(Likely) benign	1 lab	9b8781db63
7:11581228 THSD7A T>C	7	11581228	11581228	T	C	THSD7A	c.1640A>G	NM_015204.3	NP_056019.1:p.(Asn547Ser)	NC_000007.13:g.11581228T>C	VUS	1 lab	9b8931f845
2:179429395 TTN A>G	2	179429395	179429395	A	G	TTN	c.81464T>C	NM_001267550.2	NP_001254479.2:p.(Ile27155Thr)	NC_000002.11:g.179429395A>G	(Likely) benign	1 lab	9b89429401
4:73956968 ANKRD17 G>C	4	73956968	73956968	G	C	ANKRD17	c.6377C>G	NM_032217.5	NP_115593.3:p.(Ser2126Cys)	NC_000004.11:g.73956968G>C	VUS	1 lab	9b896998ae
22:21341876 LZTR1 A>G	22	21341876	21341876	A	G	LZTR1	c.400+4A>G	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21341876A>G	VUS	1 lab	9b8ac56a85
10:26377297 MYO3A T>C	10	26377297	26377297	T	C	MYO3A	c.1525T>C	NM_017433.5	NP_059129.3:p.(Tyr509His)	NC_000010.10:g.26377297T>C	(Likely) benign	1 lab	9b8b3ed9b9
2:61515855 USP34 G>A	2	61515855	61515855	G	A	USP34	c.4706C>T	NM_014709.4	NP_055524.3:p.(Ala1569Val)	NC_000002.11:g.61515855G>A	VUS	1 lab	9b8f9be6d1
X:69354623 IGBP1 A>C	X	69354623	69354623	A	C	IGBP1	c.439A>C	NM_001551.3	NP_001542.1:p.(Ser147Arg)	NC_000023.10:g.69354623A>C	VUS	1 lab	9b91e1c1d9
11:45967551 PHF21A C>T	11	45967551	45967551	C	T	PHF21A	c.1292G>A	NM_001352027.3	NP_001338956.1:p.(Arg431His)	NC_000011.9:g.45967551C>T	VUS	1 lab	9b9296e014
X:154156865 F8 G>A	X	154156865	154156865	G	A	F8	c.5200C>T	NM_000132.4	NP_000123.1:p.(Pro1734Ser)	NC_000023.10:g.154156865G>A	VUS	1 lab	9b92d31675
15:99465566 IGF1R A>G	15	99465566	99465566	A	G	IGF1R	c.2391A>G	NM_000875.5	NP_000866.1:p.(Thr797=)	NC_000015.9:g.99465566A>G	(Likely) benign	1 lab	9b93a24db8
17:42988010 GFAP G>C	17	42988010	42988010	G	C	GFAP	c.1144C>G	NM_002055.5	NP_002046.1:p.(Gln382Glu)	NC_000017.10:g.42988010G>C	(Likely) benign	1 lab	9b93a93930
16:67862423 CENPT C>G	16	67862423	67862423	C	G	CENPT	c.1516G>C	NM_025082.4	NP_079358.3:p.(Gly506Arg)	NC_000016.9:g.67862423C>G	VUS	1 lab	9b950569f4
5:79732754 ZFYVE16 A>G	5	79732754	79732754	A	G	ZFYVE16	c.250A>G	NM_001284236.3	NP_001271165.2:p.(Thr84Ala)	NC_000005.9:g.79732754A>G	(Likely) benign	1 lab	9b959cd468
4:1957444 NSD2 C>G	4	1957444	1957444	C	G	NSD2	c.2543C>G	NM_001042424.3	NP_001035889.1:p.(Ser848Cys)	NC_000004.11:g.1957444C>G	VUS	1 lab	9b960f8171
1:1163881 SDF4 C>T	1	1163881	1163881	C	T	SDF4	c.272G>A	NM_016176.6	NP_057260.3:p.(Arg91Gln)	NC_000001.10:g.1163881C>T	(Likely) benign	1 lab	9b9673d1ee
3:12942557 IQSEC1 G>A	3	12942557	12942557	G	A	IQSEC1	c.3270C>T	NM_001134382.3	NP_001127854.1:p.(His1090=)	NC_000003.11:g.12942557G>A	(Likely) benign	1 lab	9b96fafcdc
18:48573287 SMAD4 TAGG>T	18	48573287	48573290	TAGG	T	SMAD4	c.-127-2_-127del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573288_48573290del	(Likely) benign	1 lab	9b97facfef
15:99434650 IGF1R C>T	15	99434650	99434650	C	T	IGF1R	c.737C>T	NM_000875.5	NP_000866.1:p.(Thr246Met)	NC_000015.9:g.99434650C>T	(Likely) benign	1 lab	9b9afc113e
13:24465958 C1QTNF9B C>T	13	24465958	24465958	C	T	C1QTNF9B	c.472G>A	NM_001007537.3	NP_001007538.1:p.(Gly158Arg)	NC_000013.10:g.24465958C>T	VUS	1 lab	9b9c05b46b
2:208994253 CRYGC T>C	2	208994253	208994253	T	C	CRYGC	c.164A>G	NM_020989.4	NP_066269.1:p.(Gln55Arg)	NC_000002.11:g.208994253T>C	(Likely) benign	1 lab	9b9eda202d
1:44019313 PTPRF G>A	1	44019313	44019313	G	A	PTPRF	c.237+5G>A	NM_002840.5	NP_002831.2:p.?	NC_000001.10:g.44019313G>A	(Likely) benign	1 lab	9b9ef60cf4
14:57052554 TMEM260 A>G	14	57052554	57052554	A	G	TMEM260	c.268A>G	NM_017799.4	NP_060269.3:p.(Ile90Val)	NC_000014.8:g.57052554A>G	(Likely) benign	1 lab	9b9ffc0116
17:57771081 CLTC T>C	17	57771081	57771081	T	C	CLTC	c.4904-8T>C	NM_004859.4	NP_004850.1:p.?	NC_000017.10:g.57771081T>C	(Likely) benign	1 lab	9ba292ca75
19:35249940 ZNF599 T>TAA	19	35249940	35249943	T	TAA	ZNF599	c.1764_1765dup	NM_001007248.3	NP_001007249.1:p.(Ter589PheextTer14)	NC_000019.9:g.35249942_35249943dup	VUS	1 lab	9ba2f35177
5:98224773 CHD1 T>G	5	98224773	98224773	T	G	CHD1	c.2343+7A>C	NM_001270.4	NP_001261.2:p.?	NC_000005.9:g.98224773T>G	(Likely) benign	1 lab	9ba3ebe9e8
11:108203613 ATM G>A	11	108203613	108203613	G	A	ATM	c.7913G>A	NM_000051.4	NP_000042.3:p.(Trp2638Ter)	NC_000011.9:g.108203613G>A	(Likely) pathogenic	1 lab	9ba415ee93
19:15278219 NOTCH3 C>T	19	15278219	15278219	C	T	NOTCH3	c.5203G>A	NM_000435.3	NP_000426.2:p.(Glu1735Lys)	NC_000019.9:g.15278219C>T	VUS	1 lab	9ba787d7f7
18:19424052 MIB1 G>C	18	19424052	19424052	G	C	MIB1	c.2050-1G>C	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19424052G>C	VUS	1 lab	33505e5564
19:43762500 PSG9 C>A	19	43762500	43762500	C	A	PSG9	c.1097G>T	NM_002784.5	NP_002775.3:p.(Trp366Leu)	NC_000019.9:g.43762500C>A	VUS	1 lab	9ba80d37cd
7:140624403 BRAF G>GCGGCGC	7	140624403	140624425	G	GCGGCGC	BRAF	c.95_100dup	NM_004333.6	NP_004324.2:p.(Gly32_Ala33dup)	NC_000007.13:g.140624420_140624425dup	(Likely) benign	1 lab	9ba8cf0dc3
X:102841795 TCEAL4 G>C	X	102841795	102841795	G	C	TCEAL4	c.192G>C	NM_001006935.3	NP_001006936.1:p.(Lys64Asn)	NC_000023.10:g.102841795G>C	VUS	1 lab	9baa2ec370
21:46914485 COL18A1 G>A	21	46914485	46914485	G	A	COL18A1	c.2379G>A	NM_001379500.1	NP_001366429.1:p.(Pro793=)	NC_000021.8:g.46914485G>A	(Likely) benign	1 lab	9babf1e24a
6:41545784 FOXP4 A>G	6	41545784	41545784	A	G	FOXP4	c.265A>G	NM_001012426.2	NP_001012426.1:p.(Asn89Asp)	NC_000006.11:g.41545784A>G	VUS	1 lab	9bacb4f001
17:10301792 MYH8 T>C	17	10301792	10301792	T	C	MYH8	c.4147A>G	NM_002472.3	NP_002463.2:p.(Ile1383Val)	NC_000017.10:g.10301792T>C	(Likely) benign	1 lab	9bad624a2e
22:42607048 TCF20 G>C	22	42607048	42607048	G	C	TCF20	c.4264C>G	NM_001378418.1	NP_001365347.1:p.(Gln1422Glu)	NC_000022.10:g.42607048G>C	VUS	1 lab	9bafec2f7c
1:240256439 FMN2 G>A	1	240256439	240256439	G	A	FMN2	c.1030G>A	NM_020066.5	NP_064450.3:p.(Asp344Asn)	NC_000001.10:g.240256439G>A	(Likely) benign	1 lab	9bb0230639
2:179519728 TTN A>G	2	179519728	179519728	A	G	TTN	c.38039-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179519728A>G	(Likely) benign	1 lab	9bb23089be
13:113536195 ATP11A AG>A	13	113536195	113536197	AG	A	ATP11A	c.*17del	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113536197del	(Likely) benign	1 lab	9bb43e5aa3
2:55864738 PNPT1 G>GA	2	55864738	55864747	G	GA	PNPT1	c.2149-5dup	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55864747dup	(Likely) benign	1 lab	9bb4b4c10b
3:178957852 PIK3CA G>T	3	178957852	178957852	G	T	PIK3CA	c.*5700G>T	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178957852G>T	(Likely) benign	1 lab	9bb67508ef
9:94487066 ROR2 C>T	9	94487066	94487066	C	T	ROR2	c.1710G>A	NM_004560.4	NP_004551.2:p.(Pro570=)	NC_000009.11:g.94487066C>T	(Likely) benign	1 lab	9bb6769b25
3:184079251 CLCN2 G>A	3	184079251	184079251	G	A	CLCN2	c.17C>T	NM_004366.6	NP_004357.3:p.(Ala6Val)	NC_000003.11:g.184079251G>A	(Likely) benign	1 lab	3351207155
19:7166227 INSR G>A	19	7166227	7166227	G	A	INSR	c.1799C>T	NM_000208.4	NP_000199.2:p.(Ser600Leu)	NC_000019.9:g.7166227G>A	VUS	1 lab	9bb8c0b06d
11:17112892 PIK3C2A A>C	11	17112892	17112892	A	C	PIK3C2A	c.4867T>G	NM_002645.4	NP_002636.2:p.(Phe1623Val)	NC_000011.9:g.17112892A>C	VUS	1 lab	9bb906e52c
6:160551158 SLC22A1 C>G	6	160551158	160551158	C	G	SLC22A1	c.434C>G	NM_003057.3	NP_003048.1:p.(Ser145Cys)	NC_000006.11:g.160551158C>G	VUS	1 lab	9bbae6cf02
16:2156916 PKD1 A>G	16	2156916	2156916	A	G	PKD1	c.7099T>C	NM_001009944.2	NP_001009944.2:p.(Ser2367Pro)	NC_000016.9:g.2156916A>G	VUS	1 lab	287163f933
17:7495219 FXR2 T>C	17	7495219	7495219	T	C	FXR2	c.1951A>G	NM_004860.4	NP_004851.2:p.(Lys651Glu)	NC_000017.10:g.7495219T>C	(Likely) benign	1 lab	9bbdeb63ca
18:61323011 SERPINB3 T>TGCCA	18	61323011	61323012	T	TGCCA	SERPINB3	c.1052_1053insTGGC	NM_006919.3	NP_008850.1:p.(Phe352GlyfsTer10)	NC_000018.9:g.61323011_61323012insGCCA	VUS	1 lab	9bbdfd967b
14:77908979 VIPAS39 G>A	14	77908979	77908979	G	A	VIPAS39	c.658C>T	NM_001193315.2	NP_001180244.1:p.(Arg220Ter)	NC_000014.8:g.77908979G>A	(Likely) pathogenic	1 lab	9bbe892911
1:16243369 SPEN C>T	1	16243369	16243369	C	T	SPEN	c.1395+595C>T	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16243369C>T	(Likely) benign	1 lab	9bbe9e5975
5:176678492 NSD1 A>C	5	176678492	176678492	A	C	NSD1	c.4642-239A>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176678492A>C	(Likely) benign	1 lab	9bbf9c9e99
7:107557794 DLD G>A	7	107557794	107557794	G	A	DLD	c.1123G>A	NM_000108.5	NP_000099.2:p.(Glu375Lys)	NC_000007.13:g.107557794G>A	VUS	1 lab	9bc03d21e3
4:88940694 PKD2 AC>A	4	88940694	88940696	AC	A	PKD2	c.682del	NM_000297.4	NP_000288.1:p.(Leu228SerfsTer5)	NC_000004.11:g.88940696del	(Likely) pathogenic	1 lab	9bc15659fa
X:57146920 SPIN2B T>C	X	57146920	57146920	T	C	SPIN2B	c.143A>G	NM_001006681.2	NP_001006682.1:p.(Asn48Ser)	NC_000023.10:g.57146920T>C	VUS	1 lab	9bc395b2d9
7:295860 FAM20C C>T	7	295860	295860	C	T	FAM20C	c.1118C>T	NM_020223.4	NP_064608.2:p.(Thr373Met)	NC_000007.13:g.295860C>T	VUS	1 lab	9bc43ce65e
17:78064172 CCDC40 C>CA	17	78064172	78064173	C	CA	CCDC40	c.2832+490dup	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064173dup	(Likely) benign	1 lab	9bc54990ba
6:33052835 HLA-DPB1 G>A	6	33052835	33052835	G	A	HLA-DPB1	c.473G>A	NM_002121.6	NP_002112.3:p.(Trp158Ter)	NC_000006.11:g.33052835G>A	VUS	1 lab	9bc5a17dbd
2:166901988 SCN1A AT>A	2	166901988	166901998	AT	A	SCN1A	c.1378-152del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166901998del	(Likely) benign	1 lab	335152ac91
1:228433217 OBSCN A>G	1	228433217	228433217	A	G	OBSCN	c.3585A>G	NM_052843.4	NP_443075.3:p.(Thr1195=)	NC_000001.10:g.228433217A>G	(Likely) benign	1 lab	26e0816bdd
7:98557072 TRRAP G>A	7	98557072	98557072	G	A	TRRAP	c.6448G>A	NM_001375524.1	NP_001362453.1:p.(Glu2150Lys)	NC_000007.13:g.98557072G>A	VUS	1 lab	9bc659226c
15:48802339 FBN1 C>T	15	48802339	48802339	C	T	FBN1	c.1616G>A	NM_000138.5	NP_000129.3:p.(Arg539Gln)	NC_000015.9:g.48802339C>T	VUS	1 lab	9bc94e3bc1
21:46642052 ADARB1 G>A	21	46642052	46642052	G	A	ADARB1	c.2046G>A	NM_001112.4	NP_001103.1:p.(Ala682=)	NC_000021.8:g.46642052G>A	VUS	1 lab	9bca81c69a
6:42946767 PEX6 C>T	6	42946767	42946767	C	T	PEX6	c.122G>A	NM_000287.4	NP_000278.3:p.(Arg41Lys)	NC_000006.11:g.42946767C>T	VUS	1 lab	9bcb624f24
1:235938386 LYST C>A	1	235938386	235938386	C	A	LYST	c.5461G>T	NM_000081.4	NP_000072.2:p.(Val1821Phe)	NC_000001.10:g.235938386C>A	(Likely) benign	1 lab	9bcd2510ca
19:47844604 C5AR2 G>A	19	47844604	47844604	G	A	C5AR2	c.548G>A	NM_001271749.2	NP_001258678.1:p.(Arg183Gln)	NC_000019.9:g.47844604G>A	(Likely) benign	1 lab	9bd03e6677
8:100831746 VPS13B G>A	8	100831746	100831746	G	A	VPS13B	c.8803G>A	NM_017890.5	NP_060360.3:p.(Glu2935Lys)	NC_000008.10:g.100831746G>A	VUS	1 lab	26edfdb873
16:2165501 PKD1 AGGCGTCCAGC>A	16	2165501	2165514	AGGCGTCCAGC	A	PKD1	c.1965_1974del	NM_001009944.3	NP_001009944.3:p.(Leu656ProfsTer126)	NC_000016.9:g.2165505_2165514del	(Likely) pathogenic	1 lab	9bd1586696
6:35210458 SCUBE3 C>T	6	35210458	35210458	C	T	SCUBE3	c.1594C>T	NM_152753.4	NP_689966.2:p.(Arg532Trp)	NC_000006.11:g.35210458C>T	VUS	1 lab	9bd23cedd7
14:24033568 AP1G2 G>C	14	24033568	24033568	G	C	AP1G2	c.951C>G	NM_003917.5	NP_003908.1:p.(Phe317Leu)	NC_000014.8:g.24033568G>C	VUS	1 lab	9bd290c4bc
1:8576286 RERE G>GA	1	8576286	8576308	G	GA	RERE	c.831-7553dup	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8576308dup	(Likely) benign	1 lab	9bd2fbd028
9:138395528 MRPS2 G>A	9	138395528	138395528	G	A	MRPS2	c.440G>A	NM_016034.5	NP_057118.1:p.(Arg147His)	NC_000009.11:g.138395528G>A	VUS	1 lab	9bd451ff74
17:1680562 SERPINF1 C>T	17	1680562	1680562	C	T	SERPINF1	c.1079C>T	NM_002615.7	NP_002606.3:p.(Ala360Val)	NC_000017.10:g.1680562C>T	(Likely) benign	1 lab	9bd4967cdf
15:63901460 HERC1 G>A	15	63901460	63901460	G	A	HERC1	c.14406C>T	NM_003922.4	NP_003913.3:p.(Tyr4802=)	NC_000015.9:g.63901460G>A	(Likely) benign	1 lab	9bd5151a03
2:179467310 TTN C>T	2	179467310	179467310	C	T	TTN	c.54819G>A	NM_001267550.2	NP_001254479.2:p.(Pro18273=)	NC_000002.11:g.179467310C>T	VUS	1 lab	9bd6837815
20:17610605 RRBP1 G>A	20	17610605	17610605	G	A	RRBP1	c.2612C>T	NM_001365613.2	NP_001352542.1:p.(Ala871Val)	NC_000020.10:g.17610605G>A	(Likely) benign	1 lab	9bd6eeb638
17:56296582 MKS1 T>A	17	56296582	56296582	T	A	MKS1	c.10A>T	NM_017777.4	NP_060247.2:p.(Thr4Ser)	NC_000017.10:g.56296582T>A	VUS	1 lab	9bd7780c66
4:158254004 GRIA2 G>A	4	158254004	158254004	G	A	GRIA2	c.916G>A	NM_001083619.3	NP_001077088.2:p.(Val306Met)	NC_000004.11:g.158254004G>A	VUS	1 lab	9bd945ec88
17:29320906 RNF135 C>T	17	29320906	29320906	C	T	RNF135	c.680-3354C>T	NM_032322.4	NP_115698.3:p.?	NC_000017.10:g.29320906C>T	(Likely) benign	1 lab	9bdaa53d21
12:121437108 HNF1A C>T	12	121437108	121437108	C	T	HNF1A	c.1539C>T	NM_000545.8	NP_000536.6:p.(Thr513=)	NC_000012.11:g.121437108C>T	(Likely) benign	1 lab	9bdc0bdc6f
12:48539335 PFKM A>G	12	48539335	48539335	A	G	PFKM	c.2199-12A>G	NM_000289.6	NP_000280.1:p.?	NC_000012.11:g.48539335A>G	(Likely) benign	1 lab	28740a231e
17:74382046 SPHK1 CTT>C	17	74382046	74382049	CTT	C	SPHK1	c.11-18_11-17del	NM_001142601.2	NP_001136073.1:p.?	NC_000017.10:g.74382048_74382049del	VUS	1 lab	9bde2ace56
6:117252625 RFX6 C>T	6	117252625	117252625	C	T	RFX6	c.2743C>T	NM_173560.4	NP_775831.2:p.(Pro915Ser)	NC_000006.11:g.117252625C>T	VUS	1 lab	9bde4832b8
9:35095540 PIGO A>G	9	35095540	35095540	A	G	PIGO	c.23T>C	NM_032634.4	NP_116023.2:p.(Leu8Pro)	NC_000009.11:g.35095540A>G	VUS	1 lab	9bde82cc41
7:44185198 GCK G>A	7	44185198	44185198	G	A	GCK	c.1151C>T	NM_000162.5	NP_000153.1:p.(Ala384Val)	NC_000007.13:g.44185198G>A	(Likely) pathogenic	1 lab	9bdfa01ce3
17:7247017 ACAP1 G>A	17	7247017	7247017	G	A	ACAP1	c.529-8G>A	NM_014716.4	NP_055531.1:p.?	NC_000017.10:g.7247017G>A	(Likely) benign	1 lab	9be071c9b6
17:27825488 TAOK1 G>A	17	27825488	27825488	G	A	TAOK1	c.1152G>A	NM_020791.4	NP_065842.1:p.(Met384Ile)	NC_000017.10:g.27825488G>A	VUS	1 lab	9be1845324
11:107501179 ELMOD1 A>G	11	107501179	107501179	A	G	ELMOD1	c.54A>G	NM_018712.4	NP_061182.3:p.(Lys18=)	NC_000011.9:g.107501179A>G	(Likely) benign	1 lab	9be353b975
5:112175385 APC G>T	5	112175385	112175385	G	T	APC	c.4094G>T	NM_000038.6	NP_000029.2:p.(Gly1365Val)	NC_000005.9:g.112175385G>T	VUS	1 lab	9be532bc9c
17:4008102 ZZEF1 G>A	17	4008102	4008102	G	A	ZZEF1	c.1398C>T	NM_015113.4	NP_055928.3:p.(Cys466=)	NC_000017.10:g.4008102G>A	VUS	1 lab	9be597f9ea
12:48240457 VDR A>G	12	48240457	48240457	A	G	VDR	c.890T>C	NM_000376.3	NP_000367.1:p.(Val297Ala)	NC_000012.11:g.48240457A>G	VUS	1 lab	9be6216800
12:80648855 OTOGL A>T	12	80648855	80648855	A	T	OTOGL	c.1477A>T	NM_001378609.3	NP_001365538.2:p.(Thr493Ser)	NC_000012.11:g.80648855A>T	VUS	1 lab	9be6fb5fc6
9:35061568 VCP C>T	9	35061568	35061568	C	T	VCP	c.1194+6G>A	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061568C>T	(Likely) benign	1 lab	9be8e2f12e
X:101909341 GPRASP1 A>C	X	101909341	101909341	A	C	GPRASP1	c.500A>C	NM_001184727.2	NP_001171656.1:p.(Lys167Thr)	NC_000023.10:g.101909341A>C	(Likely) benign	1 lab	9beb194c1f
11:14902249 CYP2R1 G>A	11	14902249	14902249	G	A	CYP2R1	c.433C>T	NM_024514.5	NP_078790.2:p.(Arg145Ter)	NC_000011.9:g.14902249G>A	VUS	1 lab	9beba68549
5:127873229 FBN2 G>C	5	127873229	127873229	G	C	FBN2	c.68C>G	NM_001999.4	NP_001990.2:p.(Ala23Gly)	NC_000005.9:g.127873229G>C	(Likely) benign	1 lab	9bec396e4a
18:50832077 DCC T>A	18	50832077	50832077	T	A	DCC	c.2041T>A	NM_005215.4	NP_005206.2:p.(Tyr681Asn)	NC_000018.9:g.50832077T>A	VUS	1 lab	9becbd1a6b
2:196883957 DNAH7 T>A	2	196883957	196883957	T	A	DNAH7	c.806A>T	NM_018897.3	NP_061720.2:p.(Asp269Val)	NC_000002.11:g.196883957T>A	(Likely) benign	1 lab	9bee2dfee9
19:10655550 ATG4D G>C	19	10655550	10655550	G	C	ATG4D	c.319+8G>C	NM_032885.6	NP_116274.3:p.?	NC_000019.9:g.10655550G>C	(Likely) benign	1 lab	9beea6cc4f
20:33581180 MYH7B G>A	20	33581180	33581180	G	A	MYH7B	c.2351G>A	NM_020884.7	NP_065935.4:p.(Arg784His)	NC_000020.10:g.33581180G>A	(Likely) benign	1 lab	9befa86eb2
18:29437504 TRAPPC8 G>A	18	29437504	29437504	G	A	TRAPPC8	c.3187C>T	NM_014939.5	NP_055754.3:p.(Arg1063Trp)	NC_000018.9:g.29437504G>A	VUS	1 lab	9bf0cd400b
12:70794023 KCNMB4 A>G	12	70794023	70794023	A	G	KCNMB4	c.371A>G	NM_014505.6	NP_055320.4:p.(Gln124Arg)	NC_000012.11:g.70794023A>G	VUS	1 lab	9bf1969845
4:52945049 SPATA18 G>T	4	52945049	52945049	G	T	SPATA18	c.1169G>T	NM_145263.4	NP_660306.1:p.(Ser390Ile)	NC_000004.11:g.52945049G>T	VUS	1 lab	9bf1a262d9
7:142983295 TMEM139 G>A	7	142983295	142983295	G	A	TMEM139	c.245G>A	NM_001282876.2	NP_001269805.1:p.(Arg82Gln)	NC_000007.13:g.142983295G>A	(Likely) benign	1 lab	9bf33e4634
10:71662550 COL13A1 G>GC	10	71662550	71662556	G	GC	COL13A1	c.803dup	NM_001368882.1	NP_001355811.1:p.(Gly269TrpfsTer67)	NC_000010.10:g.71662556dup	(Likely) pathogenic	1 lab	9bf4104d81
9:113100053 TXNDC8 C>T	9	113100053	113100053	C	T	TXNDC8	c.24G>A	NM_001424031.1	NP_001410960.1:p.(Thr8=)	NC_000009.11:g.113100053C>T	VUS	1 lab	9c1535683c
1:202727516 KDM5B T>C	1	202727516	202727516	T	C	KDM5B	c.1197+3A>G	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202727516T>C	VUS	1 lab	9bf5293ab3
6:159084388 SYTL3 AAC>A	6	159084388	159084393	AAC	A	SYTL3	c.92_93del	NM_001242394.2	NP_001229323.1:p.(Thr31ArgfsTer91)	NC_000006.11:g.159084392_159084393del	VUS	1 lab	9bf5ad82f5
3:195511454 MUC4 C>G	3	195511454	195511454	C	G	MUC4	c.6997G>C	NM_018406.7	NP_060876.5:p.(Asp2333His)	NC_000003.11:g.195511454C>G	(Likely) benign	1 lab	9bf5b8bcb8
17:39411879 KRTAP9-9 G>A	17	39411879	39411879	G	A	KRTAP9-9	c.242G>A	NM_030975.2	NP_112237.2:p.(Cys81Tyr)	NC_000017.10:g.39411879G>A	VUS	1 lab	9bf711df7f
5:96126277 ERAP1 A>G	5	96126277	96126277	A	G	ERAP1	c.1390T>C	NM_001040458.3	NP_001035548.1:p.(Tyr464His)	NC_000005.9:g.96126277A>G	VUS	1 lab	9bf8b1fcfd
16:1818235 MAPK8IP3 C>T	16	1818235	1818235	C	T	MAPK8IP3	c.3598C>T	NM_001318852.2	NP_001305781.1:p.(Arg1200Cys)	NC_000016.9:g.1818235C>T	(Likely) benign	1 lab	9bf8d1a62a
2:128018908 ERCC3 C>T	2	128018908	128018908	C	T	ERCC3	c.1960G>A	NM_000122.2	NP_000113.1:p.(Glu654Lys)	NC_000002.11:g.128018908C>T	(Likely) benign	1 lab	9bfa708d1a
8:145540280 DGAT1 G>A	8	145540280	145540280	G	A	DGAT1	c.1404C>T	NM_012079.6	NP_036211.2:p.(Ala468=)	NC_000008.10:g.145540280G>A	(Likely) benign	1 lab	28786ac98f
15:89391221 ACAN C>G	15	89391221	89391221	C	G	ACAN	c.1684C>G	NM_001369268.1	NP_001356197.1:p.(Pro562Ala)	NC_000015.9:g.89391221C>G	(Likely) benign	1 lab	9bffb26825
X:123538971 TENM1 C>A	X	123538971	123538971	C	A	TENM1	c.5301G>T	NM_001163278.2	NP_001156750.1:p.(Leu1767Phe)	NC_000023.10:g.123538971C>A	(Likely) benign	1 lab	9c00753532
2:215840545 ABCA12 G>C	2	215840545	215840545	G	C	ABCA12	c.5345C>G	NM_173076.3	NP_775099.2:p.(Ser1782Cys)	NC_000002.11:g.215840545G>C	VUS	1 lab	9c026f9d4b
8:9609247 TNKS G>A	8	9609247	9609247	G	A	TNKS	c.2961G>A	NM_003747.3	NP_003738.2:p.(Ser987=)	NC_000008.10:g.9609247G>A	(Likely) benign	1 lab	9c068180ca
X:37699893 DYNLT3 C>T	X	37699893	37699893	C	T	DYNLT3	c.286G>A	NM_006520.3	NP_006511.1:p.(Val96Ile)	NC_000023.10:g.37699893C>T	(Likely) benign	1 lab	9c07698c72
2:206480353 PARD3B C>A	2	206480353	206480353	C	A	PARD3B	c.3434C>A	NM_001302769.2	NP_001289698.1:p.(Pro1145His)	NC_000002.11:g.206480353C>A	(Likely) benign	1 lab	9c07938995
2:225370766 CUL3 C>T	2	225370766	225370766	C	T	CUL3	c.1113G>A	NM_003590.5	NP_003581.1:p.(Ala371=)	NC_000002.11:g.225370766C>T	VUS	1 lab	9c09421fdb
X:102864075 TCEAL3 G>A	X	102864075	102864075	G	A	TCEAL3	c.83G>A	NM_032926.3	NP_116315.1:p.(Gly28Glu)	NC_000023.10:g.102864075G>A	(Likely) benign	1 lab	9c0a700456
10:50827797 CHAT G>C	10	50827797	50827797	G	C	CHAT	c.414G>C	NM_020549.5	NP_065574.4:p.(Pro138=)	NC_000010.10:g.50827797G>C	(Likely) benign	1 lab	9c0aa82f03
X:111025253 TRPC5 A>C	X	111025253	111025253	A	C	TRPC5	c.2010T>G	NM_012471.3	NP_036603.1:p.(Phe670Leu)	NC_000023.10:g.111025253A>C	(Likely) benign	1 lab	9c0ac9aaab
12:70928606 PTPRB A>T	12	70928606	70928606	A	T	PTPRB	c.6204+7T>A	NM_001109754.4	NP_001103224.1:p.?	NC_000012.11:g.70928606A>T	(Likely) benign	1 lab	9c0bb339bb
X:69497970 ARR3 T>C	X	69497970	69497970	T	C	ARR3	c.749T>C	NM_004312.3	NP_004303.2:p.(Val250Ala)	NC_000023.10:g.69497970T>C	VUS	1 lab	9c0cdfb422
9:2077625 SMARCA2 C>A	9	2077625	2077625	C	A	SMARCA2	c.2037-4C>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2077625C>A	VUS	1 lab	9c0d08b75a
13:30351374 UBL3 G>A	13	30351374	30351374	G	A	UBL3	c.54C>T	NM_007106.4	NP_009037.1:p.(Ser18=)	NC_000013.10:g.30351374G>A	(Likely) benign	1 lab	9c0d85b025
11:75431086 MOGAT2 G>C	11	75431086	75431086	G	C	MOGAT2	c.141G>C	NM_025098.4	NP_079374.2:p.(Trp47Cys)	NC_000011.9:g.75431086G>C	VUS	1 lab	9c0f020399
9:114469024 SHOC1 G>A	9	114469024	114469024	G	A	SHOC1	c.2561C>T	NM_001378211.1	NP_001365140.1:p.(Thr854Ile)	NC_000009.11:g.114469024G>A	(Likely) benign	1 lab	9c100fc18e
6:117201750 RFX6 CG>C	6	117201750	117201752	CG	C	RFX6	c.426del	NM_173560.4	NP_775831.2:p.(Cys143AlafsTer8)	NC_000006.11:g.117201752del	(Likely) pathogenic	1 lab	9c103761e5
X:7177435 STS G>C	X	7177435	7177435	G	C	STS	c.428G>C	NM_001320752.2	NP_001307681.2:p.(Cys143Ser)	NC_000023.10:g.7177435G>C	VUS	1 lab	9c150fba5d
11:17453778 ABCC8 C>A	11	17453778	17453778	C	A	ABCC8	c.1644G>T	NM_000352.6	NP_000343.2:p.(Thr548=)	NC_000011.9:g.17453778C>A	(Likely) benign	1 lab	9c175740f0
9:36236951 GNE A>G	9	36236951	36236951	A	G	GNE	c.647T>C	NM_005476.7	NP_005467.1:p.(Val216Ala)	NC_000009.11:g.36236951A>G	(Likely) pathogenic	1 lab	9c192e6ce7
15:42103115 MAPKBP1 A>G	15	42103115	42103115	A	G	MAPKBP1	c.241A>G	NM_014994.3	NP_055809.2:p.(Lys81Glu)	NC_000015.9:g.42103115A>G	(Likely) benign	1 lab	9c19567291
X:13651155 EGFL6 G>A	X	13651155	13651155	G	A	EGFL6	c.1603G>A	NM_015507.4	NP_056322.2:p.(Asp535Asn)	NC_000023.10:g.13651155G>A	(Likely) benign	1 lab	9c1ad55bf1
17:7483294 CD68 CGGACCCACGACTGCCACTCACAACCCCACCACCACCAGCCAT>C	17	7483294	7483339	CGGACCCACGACTGCCACTCACAACCCCACCACCACCAGCCAT	C	CD68	c.220_261del	NM_001251.3	NP_001242.2:p.(Pro74_Gly87del)	NC_000017.10:g.7483298_7483339del	VUS	1 lab	9c1f034f22
5:42718765 GHR C>T	5	42718765	42718765	C	T	GHR	c.1156C>T	NM_000163.5	NP_000154.1:p.(Arg386Cys)	NC_000005.9:g.42718765C>T	VUS	1 lab	9c21482606
4:69811110 UGT2A3 A>C	4	69811110	69811110	A	C	UGT2A3	c.778T>G	NM_024743.4	NP_079019.3:p.(Trp260Gly)	NC_000004.11:g.69811110A>C	(Likely) benign	1 lab	9c21a91045
22:45929715 FBLN1 C>T	22	45929715	45929715	C	T	FBLN1	c.721C>T	NM_006486.3	NP_006477.3:p.(Arg241Cys)	NC_000022.10:g.45929715C>T	VUS	1 lab	9c2328d489
6:35471573 TULP1 G>A	6	35471573	35471573	G	A	TULP1	c.1165C>T	NM_003322.6	NP_003313.3:p.(Gln389Ter)	NC_000006.11:g.35471573G>A	VUS	1 lab	9c258ffcff
7:23810671 STK31 A>G	7	23810671	23810671	A	G	STK31	c.1761A>G	NM_031414.5	NP_113602.2:p.(Gln587=)	NC_000007.13:g.23810671A>G	(Likely) benign	1 lab	9c25f33c36
2:128370165 MYO7B C>T	2	128370165	128370165	C	T	MYO7B	c.3385C>T	NM_001393586.1	NP_001380515.1:p.(Arg1129Trp)	NC_000002.11:g.128370165C>T	VUS	1 lab	9c260fa64c
19:50983395 EMC10 C>T	19	50983395	50983395	C	T	EMC10	c.325C>T	NM_206538.4	NP_996261.1:p.(Arg109Trp)	NC_000019.9:g.50983395C>T	VUS	1 lab	9c58fba185
6:79650933 PHIP T>C	6	79650933	79650933	T	C	PHIP	c.4943A>G	NM_017934.7	NP_060404.4:p.(Asn1648Ser)	NC_000006.11:g.79650933T>C	(Likely) benign	1 lab	9c266e49b2
14:23894613 MYH7 G>C	14	23894613	23894613	G	C	MYH7	c.2301C>G	NM_000257.2	NP_000248.2:p.(Ala767=)	NC_000014.8:g.23894613G>C	(Likely) benign	1 lab	287a0b157c
4:1980559 NSD2 C>G	4	1980559	1980559	C	G	NSD2	c.4021C>G	NM_001042424.3	NP_001035889.1:p.(Pro1341Ala)	NC_000004.11:g.1980559C>G	(Likely) benign	1 lab	9c289cb553
17:33592338 SLFN5 T>C	17	33592338	33592338	T	C	SLFN5	c.2107T>C	NM_144975.4	NP_659412.3:p.(Tyr703His)	NC_000017.10:g.33592338T>C	(Likely) benign	1 lab	9c29f5f3d1
6:146720537 GRM1 G>A	6	146720537	146720537	G	A	GRM1	c.2362G>A	NM_001278064.2	NP_001264993.1:p.(Ala788Thr)	NC_000006.11:g.146720537G>A	VUS	1 lab	9c2a7de964
3:48628965 COL7A1 C>T	3	48628965	48628965	C	T	COL7A1	c.1568G>A	NM_000094.4	NP_000085.1:p.(Arg523Gln)	NC_000003.11:g.48628965C>T	VUS	1 lab	9c2af57015
20:3543051 ATRN A>G	20	3543051	3543051	A	G	ATRN	c.1576A>G	NM_139321.3	NP_647537.1:p.(Asn526Asp)	NC_000020.10:g.3543051A>G	VUS	1 lab	9c2b33a127
16:2142562 PKD1 C>T	16	2142562	2142562	C	T	PKD1	c.11188G>A	NM_001009944.3	NP_001009944.3:p.(Val3730Met)	NC_000016.9:g.2142562C>T	VUS	1 lab	9c2c155e90
1:184675794 EDEM3 A>C	1	184675794	184675794	A	C	EDEM3	c.2186T>G	NM_025191.4	NP_079467.3:p.(Ile729Ser)	NC_000001.10:g.184675794A>C	VUS	1 lab	9c2c2fc428
2:170063460 LRP2 A>G	2	170063460	170063460	A	G	LRP2	c.6770T>C	NM_004525.3	NP_004516.2:p.(Ile2257Thr)	NC_000002.11:g.170063460A>G	VUS	1 lab	9c2e08e42e
17:10301944 MYH8 A>C	17	10301944	10301944	A	C	MYH8	c.3995T>G	NM_002472.3	NP_002463.2:p.(Leu1332Arg)	NC_000017.10:g.10301944A>C	VUS	1 lab	9c2e0ed5b5
5:178413297 GRM6 C>T	5	178413297	178413297	C	T	GRM6	c.1958G>A	NM_000843.4	NP_000834.2:p.(Arg653His)	NC_000005.9:g.178413297C>T	VUS	1 lab	9c305374bf
10:102987517 LBX1 C>A	10	102987517	102987517	C	A	LBX1	c.356G>T	NM_006562.5	NP_006553.2:p.(Arg119Leu)	NC_000010.10:g.102987517C>A	VUS	1 lab	9c30e883d5
22:24718797 SPECC1L G>C	22	24718797	24718797	G	C	SPECC1L	c.1849G>C	NM_015330.6	NP_056145.5:p.(Glu617Gln)	NC_000022.10:g.24718797G>C	VUS	1 lab	9c3201fc21
14:76455320 IFT43 G>C	14	76455320	76455320	G	C	IFT43	c.147G>C	NM_001102564.3	NP_001096034.1:p.(Glu49Asp)	NC_000014.8:g.76455320G>C	VUS	1 lab	9c338c4774
X:152612812 ZNF275 C>A	X	152612812	152612812	C	A	ZNF275	c.669C>A	NM_001367757.1	NP_001354686.1:p.(His223Gln)	NC_000023.10:g.152612812C>A	(Likely) benign	1 lab	9c342088ce
12:88512259 CEP290 C>A	12	88512259	88512259	C	A	CEP290	c.1711+1G>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88512259C>A	(Likely) pathogenic	1 lab	9c34c577ac
X:106069257 TBC1D8B C>A	X	106069257	106069257	C	A	TBC1D8B	c.828-3C>A	NM_017752.3	NP_060222.2:p.?	NC_000023.10:g.106069257C>A	VUS	1 lab	9c3a07b010
12:120650373 PXN G>A	12	120650373	120650373	G	A	PXN	c.2990C>T	NM_001385981.1	NP_001372910.1:p.(Thr997Met)	NC_000012.11:g.120650373G>A	VUS	1 lab	9c3ab54ba4
21:35134288 ITSN1 A>G	21	35134288	35134288	A	G	ITSN1	c.786A>G	NM_003024.3	NP_003015.2:p.(Ile262Met)	NC_000021.8:g.35134288A>G	VUS	1 lab	9c3cdf512a
10:120934107 PRDX3 G>GA	10	120934107	120934115	G	GA	PRDX3	c.170-4dup	NM_006793.5	NP_006784.1:p.?	NC_000010.10:g.120934115dup	(Likely) benign	1 lab	9c3cfdee95
2:128459192 WDR33 G>T	2	128459192	128459192	G	T	WDR33	c.*4705C>A	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128459192G>T	VUS	1 lab	9c3d4dd73a
14:105683977 BRF1 G>A	14	105683977	105683977	G	A	BRF1	c.1676C>T	NM_001519.4	NP_001510.2:p.(Ala559Val)	NC_000014.8:g.105683977G>A	(Likely) benign	1 lab	9c403811d7
11:58919623 FAM111A AAAGT>A	11	58919623	58919630	AAAGT	A	FAM111A	c.486_489del	NM_001312909.2	NP_001299838.1:p.(Lys163ArgfsTer87)	NC_000011.9:g.58919627_58919630del	VUS	1 lab	9c42a03ad8
20:61458172 COL9A3 G>A	20	61458172	61458172	G	A	COL9A3	c.792G>A	NM_001853.4	NP_001844.3:p.(Ala264=)	NC_000020.10:g.61458172G>A	VUS	1 lab	9c44222412
1:183546741 NCF2 G>T	1	183546741	183546741	G	T	NCF2	c.359C>A	NM_000433.4	NP_000424.2:p.(Ala120Asp)	NC_000001.10:g.183546741G>T	VUS	1 lab	26f2c356f1
17:57683039 DHX40 A>C	17	57683039	57683039	A	C	DHX40	c.2200+4A>C	NM_024612.5	NP_078888.4:p.?	NC_000017.10:g.57683039A>C	VUS	1 lab	9c5095cadd
17:29576105 NF1 C>CAG	17	29576105	29576107	C	CAG	NF1	c.4079_4080insGA	NM_000267.3	NP_000258.1:p.(Leu1361AsnfsTer25)	NC_000017.10:g.29576106_29576107insGA	(Likely) pathogenic	1 lab	26f703821c
7:56088928 PSPH CAAG>TAAGA	7	56088928	56088931	CAAG	TAAGA	PSPH	c.-19-7_-19-4delinsTCTTA	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56088928_56088931delinsTAAGA	(Likely) benign	1 lab	9c45caa750
X:114541251 LUZP4 T>C	X	114541251	114541251	T	C	LUZP4	c.824T>C	NM_016383.5	NP_057467.1:p.(Val275Ala)	NC_000023.10:g.114541251T>C	VUS	1 lab	9c47d19900
6:74331619 SLC17A5 C>T	6	74331619	74331619	C	T	SLC17A5	c.886G>A	NM_012434.5	NP_036566.1:p.(Val296Ile)	NC_000006.11:g.74331619C>T	(Likely) benign	1 lab	9c488666e8
2:25457246 DNMT3A T>TC	2	25457246	25457247	T	TC	DNMT3A	c.2640dup	NM_022552.5	NP_072046.2:p.(Ser881GlufsTer40)	NC_000002.11:g.25457247dup	VUS	1 lab	9c494438e5
6:31692395 MPIG6B C>T	6	31692395	31692395	C	T	MPIG6B	c.532C>T	NM_138272.3	NP_612116.1:p.(Pro178Ser)	NC_000006.11:g.31692395C>T	(Likely) benign	1 lab	9c494ee1f4
6:87965533 ZNF292 G>A	6	87965533	87965533	G	A	ZNF292	c.2186G>A	NM_015021.3	NP_055836.1:p.(Arg729Gln)	NC_000006.11:g.87965533G>A	VUS	1 lab	9c497640c3
2:20212206 MATN3 A>C	2	20212206	20212206	A	C	MATN3	c.187T>G	NM_002381.5	NP_002372.1:p.(Ser63Ala)	NC_000002.11:g.20212206A>C	(Likely) benign	1 lab	9c4ac8450f
14:20845630 TEP1 T>C	14	20845630	20845630	T	C	TEP1	c.5897A>G	NM_007110.5	NP_009041.2:p.(Gln1966Arg)	NC_000014.8:g.20845630T>C	(Likely) benign	1 lab	9c4bb27940
12:121437418 HNF1A G>A	12	121437418	121437418	G	A	HNF1A	c.1756G>A	NM_000545.8	NP_000536.6:p.(Ala586Thr)	NC_000012.11:g.121437418G>A	(Likely) benign	1 lab	9c4c9e13c3
1:39854301 MACF1 A>G	1	39854301	39854301	A	G	MACF1	c.15787A>G	NM_001394062.1	NP_001380991.1:p.(Ile5263Val)	NC_000001.10:g.39854301A>G	(Likely) benign	1 lab	9c4f9e56ad
1:100379185 AGL A>G	1	100379185	100379185	A	G	AGL	c.4052A>G	NM_000642.3	NP_000633.2:p.(Lys1351Arg)	NC_000001.10:g.100379185A>G	VUS	1 lab	9c50183f46
17:59871037 BRIP1 C>T	17	59871037	59871037	C	T	BRIP1	c.1394G>A	NM_032043.3	NP_114432.2:p.(Cys465Tyr)	NC_000017.10:g.59871037C>T	VUS	1 lab	9c5026a276
1:35250839 GJB3 C>T	1	35250839	35250839	C	T	GJB3	c.476C>T	NM_024009.3	NP_076872.1:p.(Pro159Leu)	NC_000001.10:g.35250839C>T	VUS	1 lab	9c53c99f2e
11:27389973 LGR4 A>G	11	27389973	27389973	A	G	LGR4	c.2297T>C	NM_018490.5	NP_060960.2:p.(Phe766Ser)	NC_000011.9:g.27389973A>G	VUS	1 lab	26f53c123d
4:15480853 CC2D2A A>G	4	15480853	15480853	A	G	CC2D2A	c.123+423A>G	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15480853A>G	(Likely) benign	1 lab	9c5aeaf452
9:370261 DOCK8 T>G	9	370261	370261	T	G	DOCK8	c.1829T>G	NM_203447.4	NP_982272.2:p.(Phe610Cys)	NC_000009.11:g.370261T>G	VUS	1 lab	9c5f5a312a
2:202098350 CASP8 G>A	2	202098350	202098350	G	A	CASP8	c.-124+5G>A	NM_001228.4	NP_001219.2:p.?	NC_000002.11:g.202098350G>A	(Likely) benign	1 lab	28895bf164
4:56283403 TMEM165 A>G	4	56283403	56283403	A	G	TMEM165	c.598A>G	NM_018475.5	NP_060945.2:p.(Lys200Glu)	NC_000004.11:g.56283403A>G	VUS	1 lab	9c62e9d8f4
1:160265609 COPA G>A	1	160265609	160265609	G	A	COPA	c.2393C>T	NM_004371.4	NP_004362.2:p.(Pro798Leu)	NC_000001.10:g.160265609G>A	VUS	1 lab	9c636c1edc
1:161495571 HSPA6 G>T	1	161495571	161495571	G	T	HSPA6	c.1123G>T	NM_002155.5	NP_002146.2:p.(Ala375Ser)	NC_000001.10:g.161495571G>T	VUS	1 lab	9c6383ce8c
X:153296093 MECP2 A>AGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGAT	X	153296093	153296095	A	AGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGAT	MECP2	c.1221_1222insATCGAGGTCAAGGAAGTGGTGAAGCCCCTGCTGGTGTCCACCC	NM_001110792.2	NP_001104262.1:p.(Ser408IlefsTer23)	NC_000023.10:g.153296094_153296095insGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATG	(Likely) pathogenic	1 lab	9c65131b00
9:109689696 ZNF462 G>C	9	109689696	109689696	G	C	ZNF462	c.3503G>C	NM_021224.6	NP_067047.4:p.(Arg1168Pro)	NC_000009.11:g.109689696G>C	(Likely) benign	1 lab	9c655b9587
7:151944760 KMT2C G>A	7	151944760	151944760	G	A	KMT2C	c.2532+227C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944760G>A	(Likely) benign	1 lab	9c65b9092c
17:80043657 FASN G>A	17	80043657	80043657	G	A	FASN	c.3823C>T	NM_004104.5	NP_004095.4:p.(Arg1275Cys)	NC_000017.10:g.80043657G>A	(Likely) benign	1 lab	9c676c76da
X:153036958 PLXNB3 G>A	X	153036958	153036958	G	A	PLXNB3	c.2365G>A	NM_005393.3	NP_005384.2:p.(Ala789Thr)	NC_000023.10:g.153036958G>A	VUS	1 lab	9c6889345b
12:31244693 DDX11 C>T	12	31244693	31244693	C	T	DDX11	c.1130C>T	NM_030653.4	NP_085911.2:p.(Thr377Ile)	NC_000012.11:g.31244693C>T	VUS	1 lab	9c68bd12e2
17:72736907 RAB37 G>A	17	72736907	72736907	G	A	RAB37	c.94G>A	NM_001006638.3	NP_001006639.1:p.(Val32Met)	NC_000017.10:g.72736907G>A	VUS	1 lab	9c68d32e58
3:119328366 PLA1A G>C	3	119328366	119328366	G	C	PLA1A	c.505G>C	NM_015900.4	NP_056984.1:p.(Ala169Pro)	NC_000003.11:g.119328366G>C	VUS	1 lab	9c697e06f6
1:100318116 AGL G>T	1	100318116	100318116	G	T	AGL	c.82+1436G>T	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100318116G>T	(Likely) benign	1 lab	9c6a480cf7
12:121431395 HNF1A G>A	12	121431395	121431395	G	A	HNF1A	c.599G>A	NM_000545.8	NP_000536.6:p.(Arg200Gln)	NC_000012.11:g.121431395G>A	(Likely) pathogenic	1 lab	9c6b4c6e91
19:1055151 ABCA7 T>C	19	1055151	1055151	T	C	ABCA7	c.4006T>C	NM_019112.4	NP_061985.2:p.(Trp1336Arg)	NC_000019.9:g.1055151T>C	VUS	1 lab	9c6cdf0cda
3:101060536 SENP7 G>A	3	101060536	101060536	G	A	SENP7	c.2194C>T	NM_020654.5	NP_065705.3:p.(Pro732Ser)	NC_000003.11:g.101060536G>A	(Likely) benign	1 lab	9c6f42b9ca
10:89574236 ATAD1 T>C	10	89574236	89574236	T	C	ATAD1	c.121A>G	NM_001321967.2	NP_001308896.1:p.(Ile41Val)	NC_000010.10:g.89574236T>C	VUS	1 lab	9c73bcf929
7:101758534 CUX1 G>A	7	101758534	101758534	G	A	CUX1	c.655G>A	NM_181552.4	NP_853530.2:p.(Asp219Asn)	NC_000007.13:g.101758534G>A	VUS	1 lab	9c7987c0b0
9:140637829 EHMT1 TGCC>T	9	140637829	140637832	TGCC	T	EHMT1	c.831_833del	NM_024757.5	NP_079033.4:p.(Leu277_Pro278delinsPhe)	NC_000009.11:g.140637830_140637832del	(Likely) benign	1 lab	9c7a5e10f9
15:89398364 ACAN A>G	15	89398364	89398364	A	G	ACAN	c.2548A>G	NM_001369268.1	NP_001356197.1:p.(Ser850Gly)	NC_000015.9:g.89398364A>G	(Likely) benign	1 lab	9c7ba496b4
8:11606610 GATA4 G>A	8	11606610	11606610	G	A	GATA4	c.786+16G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11606610G>A	(Likely) benign	1 lab	9c7bb0f9a8
1:35469582 ZMYM6 T>C	1	35469582	35469582	T	C	ZMYM6	c.1979A>G	NM_007167.4	NP_009098.3:p.(Lys660Arg)	NC_000001.10:g.35469582T>C	(Likely) benign	1 lab	9c7c257034
1:175372744 TNR C>T	1	175372744	175372744	C	T	TNR	c.508G>A	NM_003285.3	NP_003276.3:p.(Asp170Asn)	NC_000001.10:g.175372744C>T	(Likely) benign	1 lab	9c7cf3e6d7
11:68206049 LRP5 C>T	11	68206049	68206049	C	T	LRP5	c.4247C>T	NM_002335.4	NP_002326.2:p.(Ala1416Val)	NC_000011.9:g.68206049C>T	VUS	1 lab	9c7fd3b5e1
12:121435345 HNF1A C>T	12	121435345	121435345	C	T	HNF1A	c.1378C>T	NM_000545.8	NP_000536.6:p.(Gln460Ter)	NC_000012.11:g.121435345C>T	(Likely) pathogenic	1 lab	9c813f2bf7
3:183959551 VWA5B2 GA>G	3	183959551	183959552	GA	G	VWA5B2	c.3455del	NM_001390846.1	NP_001377775.1:p.(Glu1152GlyfsTer20)	NC_000003.11:g.183959552del	VUS	1 lab	9c835af099
15:63908098 HERC1 C>A	15	63908098	63908098	C	A	HERC1	c.13963G>T	NM_003922.4	NP_003913.3:p.(Val4655Phe)	NC_000015.9:g.63908098C>A	VUS	1 lab	9c8380dd1e
2:74480228 SLC4A5 G>A	2	74480228	74480228	G	A	SLC4A5	c.1141C>T	NM_133478.3	NP_597812.1:p.(Arg381Cys)	NC_000002.11:g.74480228G>A	VUS	1 lab	9c84152581
6:21595264 SOX4 G>GC	6	21595264	21595265	G	GC	SOX4	c.499_500insC	NM_003107.3	NP_003098.1:p.(Gly167AlafsTer46)	NC_000006.11:g.21595264_21595265insC	(Likely) benign	1 lab	26fdf3a8ee
17:15929928 TTC19 G>A	17	15929928	15929928	G	A	TTC19	c.906G>A	NM_017775.4	NP_060245.3:p.(Met302Ile)	NC_000017.10:g.15929928G>A	(Likely) benign	1 lab	9c86e86f0e
19:55401005 FCAR G>T	19	55401005	55401005	G	T	FCAR	c.650-10G>T	NM_002000.4	NP_001991.1:p.?	NC_000019.9:g.55401005G>T	(Likely) benign	1 lab	9c871e0552
1:16246018 SPEN C>T	1	16246018	16246018	C	T	SPEN	c.1635+6C>T	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16246018C>T	(Likely) benign	1 lab	9c881630c0
12:96384275 HAL C>T	12	96384275	96384275	C	T	HAL	c.751G>A	NM_002108.4	NP_002099.1:p.(Val251Ile)	NC_000012.11:g.96384275C>T	VUS	1 lab	9c895c5b8d
2:152584355 NEB G>A	2	152584355	152584355	G	A	NEB	c.144C>T	NM_001164508.2	NP_001157980.2:p.(Ser48=)	NC_000002.11:g.152584355G>A	(Likely) benign	1 lab	9c89d50708
X:43590620 MAOA A>C	X	43590620	43590620	A	C	MAOA	c.778A>C	NM_000240.4	NP_000231.1:p.(Asn260His)	NC_000023.10:g.43590620A>C	(Likely) benign	1 lab	9c8be3ba6a
20:61460820 COL9A3 G>A	20	61460820	61460820	G	A	COL9A3	c.1022G>A	NM_001853.4	NP_001844.3:p.(Arg341Gln)	NC_000020.10:g.61460820G>A	(Likely) benign	1 lab	9c8c506588
12:56817259 TIMELESS G>C	12	56817259	56817259	G	C	TIMELESS	c.2091C>G	NM_003920.5	NP_003911.2:p.(Arg697=)	NC_000012.11:g.56817259G>C	VUS	1 lab	9c8d501236
3:133368763 TOPBP1 T>C	3	133368763	133368763	T	C	TOPBP1	c.1114A>G	NM_007027.4	NP_008958.2:p.(Arg372Gly)	NC_000003.11:g.133368763T>C	(Likely) benign	1 lab	9c8df588a8
X:153670019 GDI1 G>A	X	153670019	153670019	G	A	GDI1	c.869G>A	NM_001493.3	NP_001484.1:p.(Arg290His)	NC_000023.10:g.153670019G>A	VUS	1 lab	9c92bf9e24
X:150348771 GPR50 T>C	X	150348771	150348771	T	C	GPR50	c.716T>C	NM_004224.3	NP_004215.2:p.(Met239Thr)	NC_000023.10:g.150348771T>C	VUS	1 lab	9c937d8f72
8:94772148 TMEM67 A>AT	8	94772148	94772149	A	AT	TMEM67	c.406+1345dup	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94772149dup	(Likely) benign	1 lab	9c946b1b47
2:44126460 LRPPRC C>T	2	44126460	44126460	C	T	LRPPRC	c.3723G>A	NM_133259.4	NP_573566.2:p.(Ala1241=)	NC_000002.11:g.44126460C>T	(Likely) benign	1 lab	270035451c
4:95539190 PDLIM5 C>G	4	95539190	95539190	C	G	PDLIM5	c.956C>G	NM_006457.5	NP_006448.5:p.(Ser319Trp)	NC_000004.11:g.95539190C>G	(Likely) benign	1 lab	9ca514ac3b
11:85342861 TMEM126B A>ACAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATG	11	85342861	85342862	A	ACAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATG	TMEM126B	c.203+9_203+10insCAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATG	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85342861_85342862insCAACAGCTGGTTTCTCTGGAATATTCTCAAACTTCCTGTTCAGACGCTGCTTCAAGGTTAAACATG	VUS	1 lab	9c9583b8a7
3:129266293 H1-8 C>T	3	129266293	129266293	C	T	H1-8	c.148C>T	NM_153833.3	NP_722575.1:p.(Arg50Cys)	NC_000003.11:g.129266293C>T	VUS	1 lab	9c97c98665
4:5624313 EVC2 C>T	4	5624313	5624313	C	T	EVC2	c.2452G>A	NM_147127.5	NP_667338.3:p.(Val818Met)	NC_000004.11:g.5624313C>T	VUS	1 lab	9c97d7fb84
8:134057306 SLA C>T	8	134057306	134057306	C	T	SLA	c.407G>A	NM_001045556.3	NP_001039021.1:p.(Arg136His)	NC_000008.10:g.134057306C>T	VUS	1 lab	9c99076f9e
20:43052700 HNF4A G>A	20	43052700	43052700	G	A	HNF4A	c.935G>A	NM_000457.5	NP_000448.3:p.(Arg312His)	NC_000020.10:g.43052700G>A	(Likely) pathogenic	1 lab	9c9979db5b
16:2814823 SRRM2 C>G	16	2814823	2814823	C	G	SRRM2	c.4294C>G	NM_016333.4	NP_057417.3:p.(Pro1432Ala)	NC_000016.9:g.2814823C>G	VUS	1 lab	9c9cc3593d
2:227984646 COL4A4 C>G	2	227984646	227984646	C	G	COL4A4	c.337G>C	NM_000092.5	NP_000083.3:p.(Gly113Arg)	NC_000002.11:g.227984646C>G	VUS	1 lab	9c9d2a372e
7:5410908 TNRC18 T>G	7	5410908	5410908	T	G	TNRC18	c.3317A>C	NM_001080495.3	NP_001073964.2:p.(Asp1106Ala)	NC_000007.13:g.5410908T>G	VUS	1 lab	9c9dab6d0c
14:23240238 OXA1L G>T	14	23240238	23240238	G	T	OXA1L	c.951G>T	NM_005015.5	NP_005006.4:p.(Met317Ile)	NC_000014.8:g.23240238G>T	(Likely) benign	1 lab	9c9db9acae
12:4768348 NDUFA9 G>A	12	4768348	4768348	G	A	NDUFA9	c.552+5G>A	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4768348G>A	(Likely) benign	1 lab	9c9ffdfe8c
14:81609984 TSHR C>T	14	81609984	81609984	C	T	TSHR	c.1582C>T	NM_000369.5	NP_000360.2:p.(Arg528Cys)	NC_000014.8:g.81609984C>T	VUS	1 lab	9de470a2f0
1:22205061 HSPG2 C>T	1	22205061	22205061	C	T	HSPG2	c.2558+9G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22205061C>T	(Likely) benign	1 lab	9ca3137cb2
7:40037230 CDK13 C>G	7	40037230	40037230	C	G	CDK13	c.2009C>G	NM_003718.5	NP_003709.3:p.(Thr670Arg)	NC_000007.13:g.40037230C>G	(Likely) benign	1 lab	9ca31c20f4
1:152277614 FLG C>T	1	152277614	152277614	C	T	FLG	c.9748G>A	NM_002016.2	NP_002007.1:p.(Gly3250Ser)	NC_000001.10:g.152277614C>T	(Likely) benign	1 lab	9ca509572e
5:64511194 ADAMTS6 G>A	5	64511194	64511194	G	A	ADAMTS6	c.2393C>T	NM_197941.4	NP_922932.2:p.(Ser798Phe)	NC_000005.9:g.64511194G>A	VUS	1 lab	9ca60f4227
2:63587053 WDPCP A>G	2	63587053	63587053	A	G	WDPCP	c.1748+18468T>C	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63587053A>G	(Likely) benign	1 lab	9ca6d48bd3
X:65242157 VSIG4 G>A	X	65242157	65242157	G	A	VSIG4	c.1148C>T	NM_007268.3	NP_009199.1:p.(Thr383Ile)	NC_000023.10:g.65242157G>A	(Likely) benign	1 lab	9ca93f7b8a
19:42492623 ATP1A3 C>T	19	42492623	42492623	C	T	ATP1A3	c.93+5G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492623C>T	(Likely) benign	1 lab	9caa4a6c82
X:135594042 HTATSF1 C>G	X	135594042	135594042	C	G	HTATSF1	c.2138C>G	NM_014500.5	NP_055315.2:p.(Ser713Cys)	NC_000023.10:g.135594042C>G	VUS	1 lab	9cab25f5ce
11:113140966 NCAM1 G>A	11	113140966	113140966	G	A	NCAM1	c.2188G>A	NM_181351.5	NP_851996.2:p.(Val730Ile)	NC_000011.9:g.113140966G>A	(Likely) benign	1 lab	9cac65053f
12:115109800 TBX3 T>C	12	115109800	115109800	T	C	TBX3	c.2018A>G	NM_005996.4	NP_005987.3:p.(Asn673Ser)	NC_000012.11:g.115109800T>C	(Likely) benign	1 lab	9cae199360
9:91965541 SECISBP2 T>C	9	91965541	91965541	T	C	SECISBP2	c.1893-6T>C	NM_024077.5	NP_076982.3:p.?	NC_000009.11:g.91965541T>C	(Likely) benign	1 lab	9cb046890d
7:5460793 TNRC18 G>A	7	5460793	5460793	G	A	TNRC18	c.85C>T	NM_001080495.3	NP_001073964.2:p.(Arg29Cys)	NC_000007.13:g.5460793G>A	VUS	1 lab	9cb09a4f5c
17:10296247 MYH8 G>T	17	10296247	10296247	G	T	MYH8	c.5364C>A	NM_002472.3	NP_002463.2:p.(Asn1788Lys)	NC_000017.10:g.10296247G>T	VUS	1 lab	9cb199101b
X:132438826 GPC4 C>T	X	132438826	132438826	C	T	GPC4	c.1219G>A	NM_001448.3	NP_001439.2:p.(Val407Ile)	NC_000023.10:g.132438826C>T	(Likely) benign	1 lab	9cb1a085cb
11:6555314 DNHD1 C>A	11	6555314	6555314	C	A	DNHD1	c.2909C>A	NM_144666.3	NP_653267.2:p.(Thr970Asn)	NC_000011.9:g.6555314C>A	VUS	1 lab	9cb1b9088a
8:30623815 UBXN8 C>T	8	30623815	30623815	C	T	UBXN8	c.718C>T	NM_005671.4	NP_005662.2:p.(Arg240Trp)	NC_000008.10:g.30623815C>T	(Likely) benign	1 lab	9cb1d6b520
9:130442580 STXBP1 C>G	9	130442580	130442580	C	G	STXBP1	c.1547+59C>G	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130442580C>G	(Likely) benign	1 lab	288a9321dd
X:53263575 IQSEC2 G>A	X	53263575	53263575	G	A	IQSEC2	c.4293C>T	NM_001111125.3	NP_001104595.1:p.(Ile1431=)	NC_000023.10:g.53263575G>A	VUS	1 lab	9cb59e20a7
14:20841002 TEP1 A>C	14	20841002	20841002	A	C	TEP1	c.6966T>G	NM_007110.5	NP_009041.2:p.(Ile2322Met)	NC_000014.8:g.20841002A>C	(Likely) benign	1 lab	9cb7e94f3d
7:31018829 GHRHR G>A	7	31018829	31018829	G	A	GHRHR	c.1242G>A	NM_000823.4	NP_000814.2:p.(Ser414=)	NC_000007.13:g.31018829G>A	(Likely) benign	1 lab	9cb80b31a5
14:58955526 KIAA0586 A>G	14	58955526	58955526	A	G	KIAA0586	c.3715A>G	NM_001329943.3	NP_001316872.1:p.(Thr1239Ala)	NC_000014.8:g.58955526A>G	VUS	1 lab	9cb8f354b5
16:88893122 GALNS C>T	16	88893122	88893122	C	T	GALNS	c.1127G>A	NM_000512.5	NP_000503.1:p.(Arg376Gln)	NC_000016.9:g.88893122C>T	(Likely) benign	1 lab	9cb9685811
17:38975317 KRT10 GCCGCCGCCGTGGCCGCCGCCGGAGCTT>G	17	38975317	38975353	GCCGCCGCCGTGGCCGCCGCCGGAGCTT	G	KRT10	c.1443_1469del	NM_000421.5	NP_000412.4:p.(Ser482_Gly490del)	NC_000017.10:g.38975327_38975353del	(Likely) benign	1 lab	2705cbac8a
14:23887417 MYH7 A>T	14	23887417	23887417	A	T	MYH7	c.4169+2T>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23887417A>T	(Likely) pathogenic	1 lab	9cba4aaa1b
X:152914854 DUSP9 G>A	X	152914854	152914854	G	A	DUSP9	c.541G>A	NM_001318503.2	NP_001305432.1:p.(Asp181Asn)	NC_000023.10:g.152914854G>A	(Likely) benign	1 lab	9cbc3e9ebd
3:52179955 POC1A G>A	3	52179955	52179955	G	A	POC1A	c.586C>T	NM_015426.5	NP_056241.3:p.(His196Tyr)	NC_000003.11:g.52179955G>A	VUS	1 lab	9cbe4747a6
19:42838235 MEGF8 C>G	19	42838235	42838235	C	G	MEGF8	c.428C>G	NM_001271938.2	NP_001258867.1:p.(Pro143Arg)	NC_000019.9:g.42838235C>G	(Likely) benign	1 lab	9cbe55033f
15:40764445 CHST14 C>G	15	40764445	40764445	C	G	CHST14	c.1033C>G	NM_130468.4	NP_569735.1:p.(Arg345Gly)	NC_000015.9:g.40764445C>G	(Likely) benign	1 lab	9cbfe3f432
4:994467 IDUA G>A	4	994467	994467	G	A	IDUA	c.367G>A	NM_000203.5	NP_000194.2:p.(Glu123Lys)	NC_000004.11:g.994467G>A	VUS	1 lab	9cc002c4cd
18:24128432 KCTD1 GGCGGCGGCAGCGCTGGCGCTGCCGCCC>G	18	24128432	24128462	GGCGGCGGCAGCGCTGGCGCTGCCGCCC	G	KCTD1	c.42_68del	NM_001142730.3	NP_001136202.1:p.(Gly15_Ala23del)	NC_000018.9:g.24128436_24128462del	(Likely) benign	1 lab	9cc0e7ed4f
9:35689759 TPM2 A>G	9	35689759	35689759	A	G	TPM2	c.56T>C	NM_003289.4	NP_003280.2:p.(Ile19Thr)	NC_000009.11:g.35689759A>G	(Likely) benign	1 lab	9cc1ba348f
19:42855675 MEGF8 C>T	19	42855675	42855675	C	T	MEGF8	c.2950C>T	NM_001271938.2	NP_001258867.1:p.(Arg984Trp)	NC_000019.9:g.42855675C>T	VUS	1 lab	9cc21b7a54
16:3639234 SLX4 AGCGACAGTCAC>A	16	3639234	3639246	AGCGACAGTCAC	A	SLX4	c.4394_4404del	NM_032444.4	NP_115820.2:p.(Arg1465LeufsTer33)	NC_000016.9:g.3639236_3639246del	VUS	1 lab	9cc4d56f93
8:144997714 PLEC C>T	8	144997714	144997714	C	T	PLEC	c.6383G>A	NM_201384.3	NP_958786.1:p.(Arg2128Gln)	NC_000008.10:g.144997714C>T	VUS	1 lab	9cc4d5f5e9
10:129903972 MKI67 T>G	10	129903972	129903972	T	G	MKI67	c.6132A>C	NM_002417.5	NP_002408.3:p.(Glu2044Asp)	NC_000010.10:g.129903972T>G	VUS	1 lab	9cc5d31e9b
X:132795672 GPC3 T>C	X	132795672	132795672	T	C	GPC3	c.1482+86A>G	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132795672T>C	(Likely) benign	1 lab	288b8b5be8
6:33543663 BAK1 T>C	6	33543663	33543663	T	C	BAK1	c.113A>G	NM_001188.4	NP_001179.1:p.(Tyr38Cys)	NC_000006.11:g.33543663T>C	VUS	1 lab	9cccc9da40
3:50540838 CACNA2D2 C>G	3	50540838	50540838	C	G	CACNA2D2	c.17G>C	NM_006030.4	NP_006021.2:p.(Arg6Pro)	NC_000003.11:g.50540838C>G	VUS	1 lab	9cccea30a7
11:64701281 PPP2R5B ACAC>A	11	64701281	64701285	ACAC	A	PPP2R5B	c.1461_1463del	NM_006244.4	NP_006235.1:p.(Pro488del)	NC_000011.9:g.64701283_64701285del	VUS	1 lab	9ccde71b36
6:137143847 PEX7 C>T	6	137143847	137143847	C	T	PEX7	c.44C>T	NM_000288.4	NP_000279.1:p.(Pro15Leu)	NC_000006.11:g.137143847C>T	VUS	1 lab	9cd166f9ed
9:140693531 EHMT1 A>G	9	140693531	140693531	A	G	EHMT1	c.2607+165A>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140693531A>G	(Likely) benign	1 lab	9cd1cde919
3:12434142 PPARG G>C	3	12434142	12434142	G	C	PPARG	c.420G>C	NM_138711.6	NP_619725.3:p.(Lys140Asn)	NC_000003.11:g.12434142G>C	VUS	1 lab	9cd21609c4
19:39964866 SUPT5H C>T	19	39964866	39964866	C	T	SUPT5H	c.2652-8C>T	NM_001111020.3	NP_001104490.1:p.?	NC_000019.9:g.39964866C>T	(Likely) benign	1 lab	9cd57fa1f4
18:10803955 PIEZO2 A>G	18	10803955	10803955	A	G	PIEZO2	c.1118T>C	NM_001378183.1	NP_001365112.1:p.(Leu373Pro)	NC_000018.9:g.10803955A>G	(Likely) benign	1 lab	9cd65c2a34
18:28926040 DSG1 T>A	18	28926040	28926040	T	A	DSG1	c.1979T>A	NM_001942.4	NP_001933.2:p.(Val660Asp)	NC_000018.9:g.28926040T>A	VUS	1 lab	9cd695222f
9:133760498 ABL1 G>A	9	133760498	133760498	G	A	ABL1	c.2821G>A	NM_005157.6	NP_005148.2:p.(Val941Met)	NC_000009.11:g.133760498G>A	(Likely) benign	1 lab	9cdaae0a9e
5:149504306 PDGFRB G>A	5	149504306	149504306	G	A	PDGFRB	c.1896C>T	NM_002609.4	NP_002600.1:p.(Ala632=)	NC_000005.9:g.149504306G>A	(Likely) benign	1 lab	9cdc57a697
4:15005761 CPEB2 C>G	4	15005761	15005761	C	G	CPEB2	c.1464C>G	NM_001177382.2	NP_001170853.1:p.(Phe488Leu)	NC_000004.11:g.15005761C>G	(Likely) benign	1 lab	9ce0153809
16:86575325 MTHFSD G>T	16	86575325	86575325	G	T	MTHFSD	c.659C>A	NM_001159377.2	NP_001152849.1:p.(Pro220Gln)	NC_000016.9:g.86575325G>T	(Likely) benign	1 lab	9ce0c4950e
7:21781749 DNAH11 A>G	7	21781749	21781749	A	G	DNAH11	c.8119A>G	NM_001277115.2	NP_001264044.1:p.(Ile2707Val)	NC_000007.13:g.21781749A>G	VUS	1 lab	9ce0f55cfb
20:49509486 ADNP C>A	20	49509486	49509486	C	A	ADNP	c.1765G>T	NM_001282531.3	NP_001269460.1:p.(Val589Phe)	NC_000020.10:g.49509486C>A	(Likely) benign	1 lab	9ce26502b5
4:956931 DGKQ G>A	4	956931	956931	G	A	DGKQ	c.1882C>T	NM_001347.4	NP_001338.2:p.(Pro628Ser)	NC_000004.11:g.956931G>A	VUS	1 lab	9ce458109e
22:41573755 EP300 G>A	22	41573755	41573755	G	A	EP300	c.6040G>A	NM_001429.4	NP_001420.2:p.(Ala2014Thr)	NC_000022.10:g.41573755G>A	(Likely) benign	1 lab	9ce525bc62
14:23313725 MMP14 A>T	14	23313725	23313725	A	T	MMP14	c.1150+7A>T	NM_004995.4	NP_004986.1:p.?	NC_000014.8:g.23313725A>T	VUS	1 lab	9ce6b7f1ac
10:121579006 INPP5F A>C	10	121579006	121579006	A	C	INPP5F	c.1887-1352A>C	NM_014937.4	NP_055752.1:p.?	NC_000010.10:g.121579006A>C	VUS	1 lab	9ce755a555
4:1978066 NSD2 A>ACTCCT	4	1978066	1978083	A	ACTCCT	NSD2	c.3622-123_3622-119dup	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1978079_1978083dup	(Likely) benign	1 lab	9ce85041aa
11:65305325 SCYL1 G>A	11	65305325	65305325	G	A	SCYL1	c.2005G>A	NM_020680.4	NP_065731.3:p.(Gly669Arg)	NC_000011.9:g.65305325G>A	VUS	1 lab	9ce89b06e5
1:36933688 CSF3R T>C	1	36933688	36933688	T	C	CSF3R	c.1711A>G	NM_000760.4	NP_000751.1:p.(Asn571Asp)	NC_000001.10:g.36933688T>C	(Likely) benign	1 lab	9ce982074a
21:30714849 BACH1 C>G	21	30714849	30714849	C	G	BACH1	c.1906C>G	NM_001186.4	NP_001177.1:p.(Gln636Glu)	NC_000021.8:g.30714849C>G	(Likely) benign	1 lab	9ce9ae71b3
12:46245483 ARID2 A>G	12	46245483	46245483	A	G	ARID2	c.3577A>G	NM_152641.4	NP_689854.2:p.(Thr1193Ala)	NC_000012.11:g.46245483A>G	(Likely) benign	1 lab	9cff0a7c68
21:34927486 SON CCGGAGCCGCACCCCTAGCCGT>C	21	34927486	34927521	CCGGAGCCGCACCCCTAGCCGT	C	SON	c.5964_5984del	NM_138927.4	NP_620305.3:p.(Ser1992_Arg1998del)	NC_000021.8:g.34927501_34927521del	(Likely) benign	1 lab	9ceaf338e6
12:121877785 KDM2B C>T	12	121877785	121877785	C	T	KDM2B	c.3704G>A	NM_032590.5	NP_115979.3:p.(Arg1235His)	NC_000012.11:g.121877785C>T	VUS	1 lab	9cec7b1211
4:83763286 SEC31A C>T	4	83763286	83763286	C	T	SEC31A	c.2968+7G>A	NM_001077207.4	NP_001070675.1:p.?	NC_000004.11:g.83763286C>T	(Likely) benign	1 lab	9cecbb875a
15:34130923 RYR3 A>G	15	34130923	34130923	A	G	RYR3	c.12742A>G	NM_001036.6	NP_001027.3:p.(Met4248Val)	NC_000015.9:g.34130923A>G	(Likely) benign	1 lab	9cecfc07be
16:2059735 ZNF598 CCG>C	16	2059735	2059737	CCG	C	ZNF598	c.17del	NM_178167.5	NP_835461.2:p.(Gly6AlafsTer340)	NC_000016.9:g.2059736_2059737del	VUS	1 lab	9ceda97c3c
12:112919966 PTPN11 A>G	12	112919966	112919966	A	G	PTPN11	c.1181A>G	NM_002834.5	NP_002825.3:p.(His394Arg)	NC_000012.11:g.112919966A>G	VUS	1 lab	9cef6ea5e1
1:12026326 PLOD1 A>G	1	12026326	12026326	A	G	PLOD1	c.1603A>G	NM_000302.4	NP_000293.2:p.(Ile535Val)	NC_000001.10:g.12026326A>G	VUS	1 lab	9cf04210e3
19:1275745 FAM174C C>T	19	1275745	1275745	C	T	FAM174C	c.197C>T	NM_017914.4	NP_060384.3:p.(Ser66Leu)	NC_000019.9:g.1275745C>T	VUS	1 lab	9cf3409066
12:21971147 ABCC9 T>C	12	21971147	21971147	T	C	ABCC9	c.3708A>G	NM_020297.4	NP_064693.2:p.(Ile1236Met)	NC_000012.11:g.21971147T>C	(Likely) benign	1 lab	9cf506f58e
19:36582179 WDR62 G>A	19	36582179	36582179	G	A	WDR62	c.2112G>A	NM_001083961.2	NP_001077430.1:p.(Ser704=)	NC_000019.9:g.36582179G>A	VUS	1 lab	9cf5844663
5:58270495 PDE4D G>A	5	58270495	58270495	G	A	PDE4D	c.2426C>T	NM_001104631.2	NP_001098101.1:p.(Thr809Met)	NC_000005.9:g.58270495G>A	VUS	1 lab	9cf936b14f
3:52556865 STAB1 G>A	3	52556865	52556865	G	A	STAB1	c.6819G>A	NM_015136.3	NP_055951.2:p.(Ala2273=)	NC_000003.11:g.52556865G>A	(Likely) benign	1 lab	9cfe71dd4f
15:72492820 PKM T>A	15	72492820	72492820	T	A	PKM	c.1484A>T	NM_002654.6	NP_002645.3:p.(Asn495Ile)	NC_000015.9:g.72492820T>A	VUS	1 lab	9dadab12e8
4:38091654 TBC1D1 C>T	4	38091654	38091654	C	T	TBC1D1	c.2434C>T	NM_001396959.1	NP_001383888.1:p.(Arg812Cys)	NC_000004.11:g.38091654C>T	VUS	1 lab	9d01687646
22:30737748 SF3A1 T>C	22	30737748	30737748	T	C	SF3A1	c.1004A>G	NM_005877.6	NP_005868.1:p.(Lys335Arg)	NC_000022.10:g.30737748T>C	(Likely) benign	1 lab	9d01bdd7b5
17:80601858 WDR45B T>C	17	80601858	80601858	T	C	WDR45B	c.109A>G	NM_019613.4	NP_062559.2:p.(Asn37Asp)	NC_000017.10:g.80601858T>C	VUS	1 lab	9d03ca9077
3:182810240 MCCC1 G>A	3	182810240	182810240	G	A	MCCC1	c.230C>T	NM_020166.5	NP_064551.3:p.(Ala77Val)	NC_000003.11:g.182810240G>A	VUS	1 lab	9d04375602
1:203831064 SNRPE A>G	1	203831064	203831064	A	G	SNRPE	c.54+223A>G	NM_003094.4	NP_003085.1:p.?	NC_000001.10:g.203831064A>G	(Likely) benign	1 lab	9d045f2c72
14:74727391 VSX2 G>C	14	74727391	74727391	G	C	VSX2	c.855G>C	NM_182894.3	NP_878314.1:p.(Gln285His)	NC_000014.8:g.74727391G>C	VUS	1 lab	9d04d4b1ca
13:32950870 BRCA2 A>G	13	32950870	32950870	A	G	BRCA2	c.8696A>G	NM_000059.4	NP_000050.3:p.(Gln2899Arg)	NC_000013.10:g.32950870A>G	VUS	1 lab	9d055985b3
10:101557063 ABCC2 G>A	10	101557063	101557063	G	A	ABCC2	c.842G>A	NM_000392.5	NP_000383.2:p.(Ser281Asn)	NC_000010.10:g.101557063G>A	(Likely) benign	1 lab	9d07287748
12:79679638 SYT1 T>C	12	79679638	79679638	T	C	SYT1	c.238T>C	NM_005639.3	NP_005630.1:p.(Cys80Arg)	NC_000012.11:g.79679638T>C	(Likely) benign	1 lab	9d074e6b14
16:72831132 ZFHX3 C>A	16	72831132	72831132	C	A	ZFHX3	c.5449G>T	NM_006885.4	NP_008816.3:p.(Val1817Leu)	NC_000016.9:g.72831132C>A	(Likely) benign	1 lab	9d078c6cfa
11:799432 PIDD1 G>A	11	799432	799432	G	A	PIDD1	c.2608C>T	NM_145886.4	NP_665893.2:p.(Arg870Cys)	NC_000011.9:g.799432G>A	VUS	1 lab	9d082a0a78
16:2161411 PKD1 G>A	16	2161411	2161411	G	A	PKD1	c.3757C>T	NM_001009944.3	NP_001009944.3:p.(Leu1253=)	NC_000016.9:g.2161411G>A	(Likely) benign	1 lab	9d09223fc9
10:124810583 ACADSB G>GC	10	124810583	124810584	G	GC	ACADSB	c.1010dup	NM_001609.4	NP_001600.1:p.(His338SerfsTer18)	NC_000010.10:g.124810584dup	VUS	1 lab	9d09c3869a
17:48433989 XYLT2 A>G	17	48433989	48433989	A	G	XYLT2	c.1600A>G	NM_022167.4	NP_071450.2:p.(Lys534Glu)	NC_000017.10:g.48433989A>G	(Likely) benign	1 lab	9d0ba7ce4b
2:108496531 RGPD4 G>T	2	108496531	108496531	G	T	RGPD4	c.5032G>T	NM_182588.3	NP_872394.2:p.(Ala1678Ser)	NC_000002.11:g.108496531G>T	VUS	1 lab	9d0cef448d
1:8667919 RERE A>G	1	8667919	8667919	A	G	RERE	c.522+6701T>C	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8667919A>G	(Likely) benign	1 lab	9d0f075076
2:240111734 HDAC4 G>A	2	240111734	240111734	G	A	HDAC4	c.134C>T	NM_001378414.1	NP_001365343.1:p.(Ser45Leu)	NC_000002.11:g.240111734G>A	(Likely) benign	1 lab	9d1209b963
12:79693315 SYT1 G>A	12	79693315	79693315	G	A	SYT1	c.794G>A	NM_005639.3	NP_005630.1:p.(Ser265Asn)	NC_000012.11:g.79693315G>A	(Likely) benign	1 lab	9d131d2b5d
6:26406283 BTN3A1 G>A	6	26406283	26406283	G	A	BTN3A1	c.232G>A	NM_007048.6	NP_008979.3:p.(Val78Met)	NC_000006.11:g.26406283G>A	VUS	1 lab	9d1514286c
6:88372792 ORC3 G>A	6	88372792	88372792	G	A	ORC3	c.1763G>A	NM_012381.4	NP_036513.2:p.(Arg588His)	NC_000006.11:g.88372792G>A	VUS	1 lab	9d1517f1bb
8:61714086 CHD7 G>A	8	61714086	61714086	G	A	CHD7	c.2377-1G>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61714086G>A	VUS	1 lab	9d152751cf
5:69372372 SMN2 G>C	5	69372372	69372372	G	C	SMN2	c.859G>C	NM_017411.4	NP_059107.1:p.(Gly287Arg)	NC_000005.9:g.69372372G>C	(Likely) benign	1 lab	9d1529d8ea
2:204062080 NBEAL1 G>A	2	204062080	204062080	G	A	NBEAL1	c.7094G>A	NM_001378026.1	NP_001364955.1:p.(Arg2365His)	NC_000002.11:g.204062080G>A	(Likely) benign	1 lab	9d15f50131
1:146737632 CHD1L C>T	1	146737632	146737632	C	T	CHD1L	c.781C>T	NM_004284.6	NP_004275.4:p.(Arg261Ter)	NC_000001.10:g.146737632C>T	(Likely) benign	1 lab	9d16b49d4e
15:63967183 HERC1 C>T	15	63967183	63967183	C	T	HERC1	c.7204G>A	NM_003922.4	NP_003913.3:p.(Val2402Ile)	NC_000015.9:g.63967183C>T	(Likely) benign	1 lab	9d1ab9b03a
3:196754627 MELTF C>T	3	196754627	196754627	C	T	MELTF	c.204G>A	NM_005929.6	NP_005920.2:p.(Ala68=)	NC_000003.11:g.196754627C>T	VUS	1 lab	9d1ac4ab9e
6:143091796 HIVEP2 AT>A	6	143091796	143091798	AT	A	HIVEP2	c.4079del	NM_006734.4	NP_006725.3:p.(Asn1360IlefsTer14)	NC_000006.11:g.143091798del	VUS	1 lab	9d1c3c6400
18:10911177 PIEZO2 T>C	18	10911177	10911177	T	C	PIEZO2	c.329+7A>G	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10911177T>C	(Likely) benign	1 lab	9d1c7d3c36
15:91424702 FURIN T>G	15	91424702	91424702	T	G	FURIN	c.1979T>G	NM_002569.4	NP_002560.1:p.(Leu660Arg)	NC_000015.9:g.91424702T>G	VUS	1 lab	9d1d1c6637
3:37067243 MLH1 G>C	3	37067243	37067243	G	C	MLH1	c.1154G>C	NM_000249.4	NP_000240.1:p.(Arg385Pro)	NC_000003.11:g.37067243G>C	VUS	1 lab	9d1e97c6a5
8:118834761 EXT1 C>T	8	118834761	118834761	C	T	EXT1	c.1360G>A	NM_000127.3	NP_000118.2:p.(Val454Ile)	NC_000008.10:g.118834761C>T	(Likely) benign	1 lab	9d1ee3b355
12:132395264 ULK1 C>T	12	132395264	132395264	C	T	ULK1	c.867C>T	NM_003565.4	NP_003556.2:p.(Pro289=)	NC_000012.11:g.132395264C>T	(Likely) benign	1 lab	9d1f981d3e
10:91479206 KIF20B CAA>C	10	91479206	91479208	CAA	C	KIF20B	c.1466_1467del	NM_001284259.2	NP_001271188.1:p.(Gln489ArgfsTer18)	NC_000010.10:g.91479207_91479208del	VUS	1 lab	9d2013359e
17:57733211 CLTC G>A	17	57733211	57733211	G	A	CLTC	c.796-4G>A	NM_004859.4	NP_004850.1:p.?	NC_000017.10:g.57733211G>A	(Likely) benign	1 lab	9d20b84e56
5:90074101 ADGRV1 T>C	5	90074101	90074101	T	C	ADGRV1	c.12667-143T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90074101T>C	(Likely) benign	1 lab	288d2ded95
8:145002173 PLEC C>T	8	145002173	145002173	C	T	PLEC	c.3261-13G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145002173C>T	(Likely) benign	1 lab	9d234bcdf3
11:86519158 PRSS23 C>T	11	86519158	86519158	C	T	PRSS23	c.473C>T	NM_007173.6	NP_009104.3:p.(Thr158Met)	NC_000011.9:g.86519158C>T	VUS	1 lab	9d23564618
11:5862758 OR52E6 G>A	11	5862758	5862758	G	A	OR52E6	c.370C>T	NM_001005167.2	NP_001005167.1:p.(Arg124Cys)	NC_000011.9:g.5862758G>A	(Likely) benign	1 lab	9d23b1c878
4:128577783 INTU G>A	4	128577783	128577783	G	A	INTU	c.683-8G>A	NM_015693.4	NP_056508.2:p.?	NC_000004.11:g.128577783G>A	VUS	1 lab	9d2567d9db
15:64010873 HERC1 A>G	15	64010873	64010873	A	G	HERC1	c.3878T>C	NM_003922.4	NP_003913.3:p.(Leu1293Ser)	NC_000015.9:g.64010873A>G	VUS	1 lab	9d26409c2d
2:176957785 HOXD13 G>GGGC	2	176957785	176957800	G	GGGC	HOXD13	c.180_182dup	NM_000523.4	NP_000514.2:p.(Ala71dup)	NC_000002.11:g.176957798_176957800dup	(Likely) benign	1 lab	9d270289c6
1:3756166 CEP104 C>A	1	3756166	3756166	C	A	CEP104	c.735+6G>T	NM_014704.4	NP_055519.1:p.?	NC_000001.10:g.3756166C>A	(Likely) benign	1 lab	9d274e5811
6:110935790 CDK19 G>A	6	110935790	110935790	G	A	CDK19	c.1457C>T	NM_015076.5	NP_055891.1:p.(Ser486Leu)	NC_000006.11:g.110935790G>A	(Likely) benign	1 lab	9d27b036eb
19:54653360 CNOT3 CAG>C	19	54653360	54653362	CAG	C	CNOT3	c.1473_1474del	NM_014516.4	NP_055331.1:p.(Gly493ThrfsTer21)	NC_000019.9:g.54653361_54653362del	VUS	1 lab	9d2825a6f0
19:44622348 ZNF225 T>C	19	44622348	44622348	T	C	ZNF225	c.23T>C	NM_013362.4	NP_037494.2:p.(Val8Ala)	NC_000019.9:g.44622348T>C	VUS	1 lab	9d285ce431
19:14218639 PRKACA G>A	19	14218639	14218639	G	A	PRKACA	c.47-418C>T	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14218639G>A	(Likely) benign	1 lab	9d2945b9f4
17:48668809 CACNA1G G>A	17	48668809	48668809	G	A	CACNA1G	c.2467G>A	NM_018896.5	NP_061496.2:p.(Val823Met)	NC_000017.10:g.48668809G>A	VUS	1 lab	9d2e8e9cfe
9:135985102 RALGDS A>G	9	135985102	135985102	A	G	RALGDS	c.495T>C	NM_006266.4	NP_006257.1:p.(Gly165=)	NC_000009.11:g.135985102A>G	VUS	1 lab	9d2eb28ca2
19:7172374 INSR G>A	19	7172374	7172374	G	A	INSR	c.1195C>T	NM_000208.4	NP_000199.2:p.(Arg399Ter)	NC_000019.9:g.7172374G>A	(Likely) pathogenic	1 lab	9d2f07e0a6
5:37121791 CPLANE1 G>T	5	37121791	37121791	G	T	CPLANE1	c.9113C>A	NM_001384732.1	NP_001371661.1:p.(Pro3038Gln)	NC_000005.9:g.37121791G>T	(Likely) benign	1 lab	9d2f2c4c36
11:17409499 KCNJ11 T>C	11	17409499	17409499	T	C	KCNJ11	c.140A>G	NM_000525.4	NP_000516.3:p.(Lys47Arg)	NC_000011.9:g.17409499T>C	VUS	1 lab	9e256c1897
5:122495225 PRDM6 G>A	5	122495225	122495225	G	A	PRDM6	c.1046G>A	NM_001136239.4	NP_001129711.1:p.(Arg349Gln)	NC_000005.9:g.122495225G>A	(Likely) benign	1 lab	9d312a6a9b
12:57139905 PRIM1 C>T	12	57139905	57139905	C	T	PRIM1	c.503G>A	NM_000946.3	NP_000937.1:p.(Trp168Ter)	NC_000012.11:g.57139905C>T	(Likely) pathogenic	1 lab	9d319e5b68
7:31016096 GHRHR A>C	7	31016096	31016096	A	C	GHRHR	c.1027A>C	NM_000823.4	NP_000814.2:p.(Ile343Leu)	NC_000007.13:g.31016096A>C	(Likely) benign	1 lab	9d31c65fac
2:179583657 TTN C>G	2	179583657	179583657	C	G	TTN	c.24270G>C	NM_001267550.2	NP_001254479.2:p.(Leu8090Phe)	NC_000002.11:g.179583657C>G	VUS	1 lab	9d32005314
1:34071065 CSMD2 C>T	1	34071065	34071065	C	T	CSMD2	c.6349G>A	NM_001281956.2	NP_001268885.1:p.(Glu2117Lys)	NC_000001.10:g.34071065C>T	(Likely) benign	1 lab	9d32fb0cf4
5:93807252 KIAA0825 A>C	5	93807252	93807252	A	C	KIAA0825	c.1640T>G	NM_001145678.3	NP_001139150.1:p.(Leu547Trp)	NC_000005.9:g.93807252A>C	VUS	1 lab	9d34c6d33c
11:4104160 STIM1 G>A	11	4104160	4104160	G	A	STIM1	c.1186G>A	NM_001382567.1	NP_001369496.1:p.(Val396Met)	NC_000011.9:g.4104160G>A	VUS	1 lab	9d350ef4ae
16:88504232 ZNF469 G>A	16	88504232	88504232	G	A	ZNF469	c.10354G>A	NM_001367624.2	NP_001354553.1:p.(Gly3452Ser)	NC_000016.9:g.88504232G>A	VUS	1 lab	9d366c0e4a
9:131386724 SPTAN1 C>G	9	131386724	131386724	C	G	SPTAN1	c.5950C>G	NM_001130438.3	NP_001123910.1:p.(Leu1984Val)	NC_000009.11:g.131386724C>G	(Likely) pathogenic	1 lab	9d37f1b31a
11:71941833 INPPL1 C>T	11	71941833	71941833	C	T	INPPL1	c.1198-7C>T	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71941833C>T	(Likely) benign	1 lab	9d398cfdfe
17:1629356 WDR81 G>A	17	1629356	1629356	G	A	WDR81	c.1103G>A	NM_001163809.2	NP_001157281.1:p.(Arg368Gln)	NC_000017.10:g.1629356G>A	VUS	1 lab	9d39d7ee77
5:60839600 ZSWIM6 G>A	5	60839600	60839600	G	A	ZSWIM6	c.3104G>A	NM_020928.2	NP_065979.1:p.(Arg1035Gln)	NC_000005.9:g.60839600G>A	VUS	1 lab	9d3b950538
15:43692262 TUBGCP4 A>G	15	43692262	43692262	A	G	TUBGCP4	c.1439A>G	NM_014444.5	NP_055259.2:p.(Tyr480Cys)	NC_000015.9:g.43692262A>G	VUS	1 lab	9d3f8d6bf7
8:42233338 DKK4 C>T	8	42233338	42233338	C	T	DKK4	c.122G>A	NM_014420.3	NP_055235.1:p.(Cys41Tyr)	NC_000008.10:g.42233338C>T	VUS	1 lab	9d3ff10ea4
15:48905206 FBN1 C>T	15	48905206	48905206	C	T	FBN1	c.247+1G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48905206C>T	(Likely) pathogenic	1 lab	288d905deb
16:3817733 CREBBP G>C	16	3817733	3817733	G	C	CREBBP	c.3238C>G	NM_004380.3	NP_004371.2:p.(Pro1080Ala)	NC_000016.9:g.3817733G>C	(Likely) benign	1 lab	9d417d523f
16:89627345 RPL13 C>T	16	89627345	89627345	C	T	RPL13	c.-20-3C>T	NM_000977.4	NP_000968.2:p.?	NC_000016.9:g.89627345C>T	(Likely) benign	1 lab	9d42c7fcdc
17:10318897 MYH8 G>A	17	10318897	10318897	G	A	MYH8	c.540C>T	NM_002472.3	NP_002463.2:p.(Thr180=)	NC_000017.10:g.10318897G>A	(Likely) benign	1 lab	9d43192973
1:89427821 KYAT3 A>G	1	89427821	89427821	A	G	KYAT3	c.461T>C	NM_001008661.3	NP_001008661.1:p.(Leu154Pro)	NC_000001.10:g.89427821A>G	(Likely) benign	1 lab	9d44e53288
6:21595400 SOX4 G>A	6	21595400	21595400	G	A	SOX4	c.635G>A	NM_003107.3	NP_003098.1:p.(Ser212Asn)	NC_000006.11:g.21595400G>A	VUS	1 lab	9d455b1848
8:61712784 CHD7 T>G	8	61712784	61712784	T	G	CHD7	c.2239-163T>G	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61712784T>G	(Likely) benign	1 lab	9d479c7890
18:3879441 DLGAP1 C>T	18	3879441	3879441	C	T	DLGAP1	c.628G>A	NM_004746.4	NP_004737.2:p.(Gly210Ser)	NC_000018.9:g.3879441C>T	VUS	1 lab	9d47f4541a
17:7329651 SPEM2 A>G	17	7329651	7329651	A	G	SPEM2	c.341A>G	NM_175734.5	NP_783861.3:p.(Asn114Ser)	NC_000017.10:g.7329651A>G	VUS	1 lab	9d48d8d9c4
1:100350133 AGL T>C	1	100350133	100350133	T	C	AGL	c.2555T>C	NM_000642.3	NP_000633.2:p.(Leu852Pro)	NC_000001.10:g.100350133T>C	(Likely) benign	1 lab	9d4929a770
5:37205492 CPLANE1 GT>G	5	37205492	37205497	GT	G	CPLANE1	c.3213del	NM_023073.4	NP_075561.3:p.(Lys1071AsnfsTer6)	NC_000005.9:g.37205497del	(Likely) pathogenic	1 lab	27097a86cd
6:86282023 SNX14 G>A	6	86282023	86282023	G	A	SNX14	c.331C>T	NM_153816.6	NP_722523.1:p.(Arg111Ter)	NC_000006.11:g.86282023G>A	(Likely) pathogenic	1 lab	9d498b0f59
11:27016090 FIBIN T>C	11	27016090	27016090	T	C	FIBIN	c.17T>C	NM_203371.2	NP_976249.1:p.(Phe6Ser)	NC_000011.9:g.27016090T>C	(Likely) benign	1 lab	9d4a445ce7
15:23812277 MKRN3 C>T	15	23812277	23812277	C	T	MKRN3	c.1348C>T	NM_005664.4	NP_005655.1:p.(Arg450Ter)	NC_000015.9:g.23812277C>T	VUS	1 lab	9d4b227b0f
1:109795970 CELSR2 A>G	1	109795970	109795970	A	G	CELSR2	c.3269A>G	NM_001408.3	NP_001399.1:p.(Asn1090Ser)	NC_000001.10:g.109795970A>G	VUS	1 lab	9d4de3fca0
1:43909326 SZT2 C>T	1	43909326	43909326	C	T	SZT2	c.8513C>T	NM_015284.4	NP_056099.3:p.(Ser2838Phe)	NC_000001.10:g.43909326C>T	VUS	1 lab	270c0bc8f7
1:156106147 LMNA G>A	1	156106147	156106147	G	A	LMNA	c.1300G>A	NM_170707.4	NP_733821.1:p.(Ala434Thr)	NC_000001.10:g.156106147G>A	VUS	1 lab	9d52f9c7ab
19:38378417 WDR87 T>G	19	38378417	38378417	T	G	WDR87	c.5894A>C	NM_001291088.2	NP_001278017.1:p.(Lys1965Thr)	NC_000019.9:g.38378417T>G	VUS	1 lab	9d54080f5c
X:32482702 DMD C>A	X	32482702	32482702	C	A	DMD	c.3276+1G>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32482702C>A	(Likely) pathogenic	1 lab	9d567fcfb5
11:63987902 FERMT3 G>A	11	63987902	63987902	G	A	FERMT3	c.1312-6G>A	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63987902G>A	(Likely) benign	1 lab	9d56855ce1
X:135333485 MAP7D3 GCCA>G	X	135333485	135333488	GCCA	G	MAP7D3	c.30_32del	NM_024597.4	NP_078873.2:p.(Gly12del)	NC_000023.10:g.135333486_135333488del	VUS	1 lab	9d5717e5be
22:50967908 TYMP C>T	22	50967908	50967908	C	T	TYMP	c.214+17G>A	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50967908C>T	VUS	1 lab	9d57fc92c9
11:17409359 KCNJ11 C>T	11	17409359	17409359	C	T	KCNJ11	c.280G>A	NM_000525.4	NP_000516.3:p.(Ala94Thr)	NC_000011.9:g.17409359C>T	VUS	1 lab	9d58b1b9a0
X:7894048 PNPLA4 G>A	X	7894048	7894048	G	A	PNPLA4	c.113C>T	NM_004650.3	NP_004641.1:p.(Ala38Val)	NC_000023.10:g.7894048G>A	(Likely) benign	1 lab	9d5a057c07
3:122437536 PARP14 C>T	3	122437536	122437536	C	T	PARP14	c.4538C>T	NM_017554.3	NP_060024.2:p.(Ala1513Val)	NC_000003.11:g.122437536C>T	(Likely) benign	1 lab	9d5c377df4
6:70935689 COL9A1 G>A	6	70935689	70935689	G	A	COL9A1	c.2527C>T	NM_001851.6	NP_001842.3:p.(Arg843Cys)	NC_000006.11:g.70935689G>A	VUS	1 lab	9d5d4e0147
1:985070 AGRN G>A	1	985070	985070	G	A	AGRN	c.4639G>A	NM_198576.4	NP_940978.2:p.(Glu1547Lys)	NC_000001.10:g.985070G>A	VUS	1 lab	9d5ed5dca6
1:45973103 MMACHC C>T	1	45973103	45973103	C	T	MMACHC	c.157C>T	NM_015506.3	NP_056321.2:p.(Leu53Phe)	NC_000001.10:g.45973103C>T	VUS	1 lab	9d5f38c78e
3:12977185 IQSEC1 T>G	3	12977185	12977185	T	G	IQSEC1	c.1331A>C	NM_001134382.3	NP_001127854.1:p.(Gln444Pro)	NC_000003.11:g.12977185T>G	VUS	1 lab	9d5f952670
15:42703087 CAPN3 C>G	15	42703087	42703087	C	G	CAPN3	c.2269C>G	NM_000070.3	NP_000061.1:p.(His757Asp)	NC_000015.9:g.42703087C>G	(Likely) pathogenic	1 lab	9d606dc7a2
12:49433766 KMT2D G>A	12	49433766	49433766	G	A	KMT2D	c.7787C>T	NM_003482.4	NP_003473.3:p.(Pro2596Leu)	NC_000012.11:g.49433766G>A	VUS	1 lab	271089f1ea
5:59064208 PDE4D G>A	5	59064208	59064208	G	A	PDE4D	c.455+124787C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.59064208G>A	(Likely) benign	1 lab	9d652b8d2a
6:149721804 TAB2 G>C	6	149721804	149721804	G	C	TAB2	c.1939+1484G>C	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149721804G>C	(Likely) benign	1 lab	27123cf13f
17:33592304 SLFN5 G>GAA	17	33592304	33592306	G	GAA	SLFN5	c.2074_2075insAA	NM_144975.4	NP_659412.3:p.(Ser692LysfsTer28)	NC_000017.10:g.33592305_33592306insAA	VUS	1 lab	9d66f39f75
1:158576782 OR10Z1 T>C	1	158576782	158576782	T	C	OR10Z1	c.554T>C	NM_001004478.2	NP_001004478.1:p.(Leu185Pro)	NC_000001.10:g.158576782T>C	VUS	1 lab	9d681fd2ba
2:105890123 TGFBRAP1 T>C	2	105890123	105890123	T	C	TGFBRAP1	c.1690A>G	NM_004257.6	NP_004248.2:p.(Arg564Gly)	NC_000002.11:g.105890123T>C	VUS	1 lab	9d68bc0b87
6:7229266 RREB1 G>A	6	7229266	7229266	G	A	RREB1	c.934G>A	NM_001003699.4	NP_001003699.1:p.(Glu312Lys)	NC_000006.11:g.7229266G>A	VUS	1 lab	9d6a7e7311
20:49558653 DPM1 C>T	20	49558653	49558653	C	T	DPM1	c.409G>A	NM_003859.3	NP_003850.1:p.(Glu137Lys)	NC_000020.10:g.49558653C>T	VUS	1 lab	9d6b9638f6
7:65435289 GUSB T>TA	7	65435289	65435290	T	TA	GUSB	c.1455dup	NM_000181.4	NP_000172.2:p.(Asn486Ter)	NC_000007.13:g.65435290dup	(Likely) pathogenic	1 lab	9d6bfb3e39
6:86201693 NT5E A>T	6	86201693	86201693	A	T	NT5E	c.1361-2A>T	NM_002526.4	NP_002517.1:p.?	NC_000006.11:g.86201693A>T	VUS	1 lab	9d6c56201c
2:175618396 CHRNA1 T>A	2	175618396	175618396	T	A	CHRNA1	c.613A>T	NM_000079.4	NP_000070.1:p.(Lys205Ter)	NC_000002.11:g.175618396T>A	VUS	1 lab	9d6db022eb
1:201982369 ELF3 C>A	1	201982369	201982369	C	A	ELF3	c.748C>A	NM_004433.5	NP_004424.3:p.(Pro250Thr)	NC_000001.10:g.201982369C>A	VUS	1 lab	9d6e4117f7
2:179408268 TTN C>A	2	179408268	179408268	C	A	TTN	c.96432G>T	NM_001267550.2	NP_001254479.2:p.(Lys32144Asn)	NC_000002.11:g.179408268C>A	VUS	1 lab	9d6f9c14d9
8:110474060 PKHD1L1 C>A	8	110474060	110474060	C	A	PKHD1L1	c.7306C>A	NM_177531.6	NP_803875.2:p.(Gln2436Lys)	NC_000008.10:g.110474060C>A	VUS	1 lab	9d70832326
10:71136790 HK1 C>G	10	71136790	71136790	C	G	HK1	c.976C>G	NM_000188.3	NP_000179.2:p.(Pro326Ala)	NC_000010.10:g.71136790C>G	VUS	1 lab	9d709b956f
4:54011745 SCFD2 A>G	4	54011745	54011745	A	G	SCFD2	c.1316T>C	NM_152540.4	NP_689753.2:p.(Ile439Thr)	NC_000004.11:g.54011745A>G	(Likely) benign	1 lab	9d7223bd16
12:112654943 HECTD4 C>T	12	112654943	112654943	C	T	HECTD4	c.7131G>A	NM_001388303.1	NP_001375232.1:p.(Met2377Ile)	NC_000012.11:g.112654943C>T	VUS	1 lab	9d7282fd00
1:41483673 SLFNL1 G>T	1	41483673	41483673	G	T	SLFNL1	c.591C>A	NM_144990.4	NP_659427.3:p.(Ser197=)	NC_000001.10:g.41483673G>T	VUS	1 lab	9d737a3df5
15:90319785 MESP2 C>G	15	90319785	90319785	C	G	MESP2	c.197C>G	NM_001039958.2	NP_001035047.1:p.(Ala66Gly)	NC_000015.9:g.90319785C>G	(Likely) benign	1 lab	9d744c122d
2:219527712 BCS1L C>T	2	219527712	219527712	C	T	BCS1L	c.996C>T	NM_004328.5	NP_004319.1:p.(Asn332=)	NC_000002.11:g.219527712C>T	(Likely) benign	1 lab	27189d2ee5
12:109661695 ACACB A>G	12	109661695	109661695	A	G	ACACB	c.3868A>G	NM_001093.4	NP_001084.3:p.(Met1290Val)	NC_000012.11:g.109661695A>G	VUS	1 lab	9d78899fbb
12:116424906 MED13L G>C	12	116424906	116424906	G	C	MED13L	c.4114+8C>G	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116424906G>C	(Likely) benign	1 lab	9d78cf5455
10:101594193 ABCC2 C>A	10	101594193	101594193	C	A	ABCC2	c.3315C>A	NM_000392.5	NP_000383.2:p.(Cys1105Ter)	NC_000010.10:g.101594193C>A	(Likely) pathogenic	1 lab	2718c55ecf
9:88204434 AGTPBP1 C>T	9	88204434	88204434	C	T	AGTPBP1	c.2722+9G>A	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88204434C>T	(Likely) benign	1 lab	9d7a464efa
12:54333196 HOXC13 C>A	12	54333196	54333196	C	A	HOXC13	c.506C>A	NM_017410.3	NP_059106.2:p.(Ala169Asp)	NC_000012.11:g.54333196C>A	VUS	1 lab	9d7abfce67
5:176639204 NSD1 C>T	5	176639204	176639204	C	T	NSD1	c.3796+8C>T	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176639204C>T	(Likely) benign	1 lab	9d7b5d3715
21:35138277 ITSN1 C>T	21	35138277	35138277	C	T	ITSN1	c.887C>T	NM_003024.3	NP_003015.2:p.(Pro296Leu)	NC_000021.8:g.35138277C>T	VUS	1 lab	9d7bb6ae92
13:32913746 BRCA2 CATTCTG>C	13	32913746	32913754	CATTCTG	C	BRCA2	c.5257_5262del	NM_000059.4	NP_000050.3:p.(Ser1753_Asp1754del)	NC_000013.10:g.32913749_32913754del	VUS	1 lab	272107e385
2:166615891 GALNT3 G>C	2	166615891	166615891	G	C	GALNT3	c.1028C>G	NM_004482.4	NP_004473.2:p.(Pro343Arg)	NC_000002.11:g.166615891G>C	VUS	1 lab	9d7cc3be5d
8:11412899 BLK G>C	8	11412899	11412899	G	C	BLK	c.678G>C	NM_001715.3	NP_001706.2:p.(Gln226His)	NC_000008.10:g.11412899G>C	(Likely) benign	1 lab	28943656a8
10:73472494 C10orf105 A>G	10	73472494	73472494	A	G	C10orf105	c.*3199T>C	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472494A>G	(Likely) benign	1 lab	9d7ebbdfce
16:1576751 IFT140 G>A	16	1576751	1576751	G	A	IFT140	c.2446C>T	NM_014714.4	NP_055529.2:p.(Arg816Trp)	NC_000016.9:g.1576751G>A	VUS	1 lab	9d827825f2
8:145577521 CATSPERQ G>A	8	145577521	145577521	G	A	CATSPERQ	c.445C>T	NM_001280561.2	NP_001267490.1:p.(His149Tyr)	NC_000008.10:g.145577521G>A	(Likely) benign	1 lab	9d938109a1
11:533301 HRAS TGGGTCCCGGGGGGTCCCAGA>T	11	533301	533330	TGGGTCCCGGGGGGTCCCAGA	T	HRAS	c.450+132_450+151del	NM_005343.4	NP_005334.1:p.?	NC_000011.9:g.533311_533330del	(Likely) benign	1 lab	9d82fa2d54
15:89395216 ACAN A>T	15	89395216	89395216	A	T	ACAN	c.2218A>T	NM_001369268.1	NP_001356197.1:p.(Thr740Ser)	NC_000015.9:g.89395216A>T	(Likely) pathogenic	1 lab	9d8448bfac
8:113326760 CSMD3 T>C	8	113326760	113326760	T	C	CSMD3	c.7447A>G	NM_198123.2	NP_937756.1:p.(Met2483Val)	NC_000008.10:g.113326760T>C	VUS	1 lab	9d852d8639
2:179702082 CCDC141 C>CTCAAAATG	2	179702082	179702090	C	CTCAAAATG	CCDC141	c.3856_3863dup	NM_173648.4	NP_775919.3:p.(Glu1288AspfsTer16)	NC_000002.11:g.179702083_179702090dup	VUS	1 lab	9d85c79344
1:159904366 IGSF9 A>G	1	159904366	159904366	A	G	IGSF9	c.816-6T>C	NM_001135050.2	NP_001128522.1:p.?	NC_000001.10:g.159904366A>G	VUS	1 lab	9d88854404
17:40696182 NAGLU C>T	17	40696182	40696182	C	T	NAGLU	c.2158C>T	NM_000263.4	NP_000254.2:p.(Arg720Ter)	NC_000017.10:g.40696182C>T	VUS	1 lab	9d89dfef11
4:88959524 PKD2 G>A	4	88959524	88959524	G	A	PKD2	c.965G>A	NM_000297.4	NP_000288.1:p.(Arg322Gln)	NC_000004.11:g.88959524G>A	(Likely) pathogenic	1 lab	9d8a471a06
10:73115841 SLC29A3 G>A	10	73115841	73115841	G	A	SLC29A3	c.614G>A	NM_018344.6	NP_060814.4:p.(Gly205Glu)	NC_000010.10:g.73115841G>A	VUS	1 lab	9d8a69dd68
9:118974055 PAPPA A>G	9	118974055	118974055	A	G	PAPPA	c.1762A>G	NM_002581.5	NP_002572.2:p.(Met588Val)	NC_000009.11:g.118974055A>G	VUS	1 lab	9d8ab41310
X:70602920 TAF1 G>A	X	70602920	70602920	G	A	TAF1	c.1853G>A	NM_004606.5	NP_004597.3:p.(Arg618His)	NC_000023.10:g.70602920G>A	(Likely) benign	1 lab	9d8d51a8fb
22:50962305 SCO2 C>T	22	50962305	50962305	C	T	SCO2	c.536G>A	NM_005138.3	NP_005129.2:p.(Arg179His)	NC_000022.10:g.50962305C>T	VUS	1 lab	9d9048ee48
16:88808697 PIEZO1 C>G	16	88808697	88808697	C	G	PIEZO1	c.283+11G>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88808697C>G	(Likely) benign	1 lab	9d908db2ae
17:40485731 STAT3 G>C	17	40485731	40485731	G	C	STAT3	c.1009C>G	NM_139276.3	NP_644805.1:p.(Leu337Val)	NC_000017.10:g.40485731G>C	(Likely) benign	1 lab	9d91a15877
11:553971 LRRC56 G>A	11	553971	553971	G	A	LRRC56	c.1324G>A	NM_198075.4	NP_932341.1:p.(Gly442Arg)	NC_000011.9:g.553971G>A	(Likely) benign	1 lab	9d943eefee
9:135946721 CEL G>GC	9	135946721	135946722	G	GC	CEL	c.1832_1833insC	NM_001807.6	NP_001798.3:p.(Ala612GlyfsTer9)	NC_000009.11:g.135946721_135946722insC	(Likely) benign	1 lab	9d9496fa6f
16:2141509 PKD1 G>A	16	2141509	2141509	G	A	PKD1	c.11627C>T	NM_001009944.3	NP_001009944.3:p.(Ala3876Val)	NC_000016.9:g.2141509G>A	(Likely) benign	1 lab	9d9545ce42
X:3239336 MXRA5 G>A	X	3239336	3239336	G	A	MXRA5	c.4390C>T	NM_015419.4	NP_056234.2:p.(His1464Tyr)	NC_000023.10:g.3239336G>A	(Likely) benign	1 lab	9d95fec512
22:51169151 SHANK3 T>G	22	51169151	51169151	T	G	SHANK3	c.4832T>G	NM_001372044.2	NP_001358973.1:p.(Leu1611Arg)	NC_000022.10:g.51169151T>G	VUS	1 lab	9d96488857
8:145736829 RECQL4 CAGG>C	8	145736829	145736834	CAGG	C	RECQL4	c.3609_3611del	NM_004260.4	NP_004251.4:p.(Leu1204del)	NC_000008.10:g.145736832_145736834del	VUS	1 lab	9d972833c6
19:7712758 STXBP2 C>T	19	7712758	7712758	C	T	STXBP2	n.1859C>T	NR_073560.2		NC_000019.9:g.7712758C>T	(Likely) benign	1 lab	28957db87d
19:39075614 RYR1 G>A	19	39075614	39075614	G	A	RYR1	c.14678G>A	NM_000540.2	NP_000531.2:p.(Arg4893Gln)	NC_000019.9:g.39075614G>A	(Likely) pathogenic	1 lab	289bb3a056
20:629488 SRXN1 GAGTAGA>G	20	629488	629499	GAGTAGA	G	SRXN1	c.278_283del	NM_080725.3	NP_542763.1:p.(Phe93_Tyr94del)	NC_000020.10:g.629494_629499del	VUS	1 lab	9d980918bf
8:6338248 MCPH1 G>A	8	6338248	6338248	G	A	MCPH1	c.1987G>A	NM_024596.5	NP_078872.3:p.(Val663Ile)	NC_000008.10:g.6338248G>A	VUS	1 lab	9d986f36ff
1:176671881 PAPPA2 T>TG	1	176671881	176671882	T	TG	PAPPA2	c.3365+10_3365+11insG	NM_020318.3	NP_064714.2:p.?	NC_000001.10:g.176671881_176671882insG	(Likely) benign	1 lab	9d98e6ec25
16:396140 AXIN1 G>A	16	396140	396140	G	A	AXIN1	c.878+8C>T	NM_003502.4	NP_003493.1:p.?	NC_000016.9:g.396140G>A	(Likely) benign	1 lab	9d9ba9e72e
19:18900885 COMP G>A	19	18900885	18900885	G	A	COMP	c.256C>T	NM_000095.3	NP_000086.2:p.(Arg86Trp)	NC_000019.9:g.18900885G>A	(Likely) benign	1 lab	9d9d746813
1:236902644 ACTN2 C>T	1	236902644	236902644	C	T	ACTN2	c.919C>T	NM_001103.3	NP_001094.1:p.(Arg307Trp)	NC_000001.10:g.236902644C>T	VUS	1 lab	28961d2c22
20:18162405 KAT14 T>A	20	18162405	18162405	T	A	KAT14	c.1720T>A	NM_001392073.1	NP_001379002.1:p.(Tyr574Asn)	NC_000020.10:g.18162405T>A	(Likely) benign	1 lab	9d9e2e8174
17:40354410 STAT5B C>A	17	40354410	40354410	C	A	STAT5B	c.2185G>T	NM_012448.4	NP_036580.2:p.(Ala729Ser)	NC_000017.10:g.40354410C>A	(Likely) benign	1 lab	9d9f20a037
19:13007752 GCDH G>A	19	13007752	13007752	G	A	GCDH	c.881G>A	NM_000159.4	NP_000150.1:p.(Arg294Gln)	NC_000019.9:g.13007752G>A	(Likely) pathogenic	1 lab	9da03d9c83
11:17418790 ABCC8 C>T	11	17418790	17418790	C	T	ABCC8	c.3938G>A	NM_000352.6	NP_000343.2:p.(Arg1313His)	NC_000011.9:g.17418790C>T	(Likely) pathogenic	1 lab	9da1dae45c
6:43020385 CUL7 C>G	6	43020385	43020385	C	G	CUL7	c.142G>C	NM_014780.5	NP_055595.2:p.(Gly48Arg)	NC_000006.11:g.43020385C>G	VUS	1 lab	9da246ba18
16:68713852 CDH3 T>C	16	68713852	68713852	T	C	CDH3	c.842T>C	NM_001793.6	NP_001784.2:p.(Val281Ala)	NC_000016.9:g.68713852T>C	VUS	1 lab	9da24dc78f
3:107474462 BBX G>A	3	107474462	107474462	G	A	BBX	c.843G>A	NM_001142568.3	NP_001136040.1:p.(Ser281=)	NC_000003.11:g.107474462G>A	VUS	1 lab	9da2fd0d8a
17:78180840 CARD14 C>T	17	78180840	78180840	C	T	CARD14	c.2763C>T	NM_024110.4	NP_077015.2:p.(Ile921=)	NC_000017.10:g.78180840C>T	(Likely) benign	1 lab	2898e6dc41
19:11577525 ELAVL3 C>T	19	11577525	11577525	C	T	ELAVL3	c.127G>A	NM_001420.4	NP_001411.2:p.(Val43Ile)	NC_000019.9:g.11577525C>T	VUS	1 lab	9da5ae76e2
X:149680697 MAMLD1 C>T	X	149680697	149680697	C	T	MAMLD1	c.*468C>T	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680697C>T	VUS	1 lab	9da7c18420
1:22180681 HSPG2 C>T	1	22180681	22180681	C	T	HSPG2	c.6439+5G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22180681C>T	VUS	1 lab	9da7fd05ae
10:61831874 ANK3 T>G	10	61831874	61831874	T	G	ANK3	c.8765A>C	NM_020987.5	NP_066267.2:p.(Lys2922Thr)	NC_000010.10:g.61831874T>G	(Likely) benign	1 lab	9daa3f57be
16:53692703 RPGRIP1L C>T	16	53692703	53692703	C	T	RPGRIP1L	c.1331G>A	NM_015272.5	NP_056087.2:p.(Arg444His)	NC_000016.9:g.53692703C>T	(Likely) benign	1 lab	9daa588024
1:118584599 SPAG17 T>G	1	118584599	118584599	T	G	SPAG17	c.2881A>C	NM_206996.4	NP_996879.1:p.(Lys961Gln)	NC_000001.10:g.118584599T>G	(Likely) benign	1 lab	9dab4da3f7
7:83014612 SEMA3E C>T	7	83014612	83014612	C	T	SEMA3E	c.1873G>A	NM_012431.3	NP_036563.1:p.(Glu625Lys)	NC_000007.13:g.83014612C>T	VUS	1 lab	9dacf4df4b
4:148463676 EDNRA C>T	4	148463676	148463676	C	T	EDNRA	c.1190C>T	NM_001957.4	NP_001948.1:p.(Ser397Leu)	NC_000004.11:g.148463676C>T	(Likely) benign	1 lab	9dadad3640
19:17994747 SLC5A5 T>C	19	17994747	17994747	T	C	SLC5A5	c.1418T>C	NM_000453.3	NP_000444.1:p.(Met473Thr)	NC_000019.9:g.17994747T>C	(Likely) benign	1 lab	9daecb43d4
21:47966820 DIP2A T>TC	21	47966820	47966823	T	TC	DIP2A	c.2395-5dup	NM_015151.4	NP_055966.2:p.?	NC_000021.8:g.47966823dup	(Likely) benign	1 lab	9db327accb
8:99162815 POP1 G>A	8	99162815	99162815	G	A	POP1	c.2005G>A	NM_001145860.2	NP_001139332.1:p.(Gly669Arg)	NC_000008.10:g.99162815G>A	VUS	1 lab	9db34780f5
2:219922167 IHH A>G	2	219922167	219922167	A	G	IHH	c.565T>C	NM_002181.4	NP_002172.2:p.(Ser189Pro)	NC_000002.11:g.219922167A>G	VUS	1 lab	9db802187c
2:44566280 PREPL G>A	2	44566280	44566280	G	A	PREPL	c.702+6C>T	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44566280G>A	(Likely) benign	1 lab	9dba141bc9
4:2826453 SH3BP2 G>A	4	2826453	2826453	G	A	SH3BP2	c.353G>A	NM_001122681.2	NP_001116153.1:p.(Arg118His)	NC_000004.11:g.2826453G>A	VUS	1 lab	9dbb5edc6f
17:33769038 SLFN13 C>T	17	33769038	33769038	C	T	SLFN13	c.1466G>A	NM_144682.6	NP_653283.3:p.(Arg489His)	NC_000017.10:g.33769038C>T	(Likely) benign	1 lab	9dbc16ad6b
9:138713316 CAMSAP1 G>A	9	138713316	138713316	G	A	CAMSAP1	c.3191C>T	NM_015447.4	NP_056262.3:p.(Ser1064Leu)	NC_000009.11:g.138713316G>A	VUS	1 lab	9dbf0888c2
4:184605381 TRAPPC11 G>A	4	184605381	184605381	G	A	TRAPPC11	c.1366+5G>A	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184605381G>A	VUS	1 lab	9dc0a05caa
15:23686199 GOLGA6L2 T>C	15	23686199	23686199	T	C	GOLGA6L2	c.1423A>G	NM_001304388.2	NP_001291317.1:p.(Lys475Glu)	NC_000015.9:g.23686199T>C	VUS	1 lab	9dc0bcabb6
1:66036171 LEPR T>C	1	66036171	66036171	T	C	LEPR	c.56T>C	NM_002303.6	NP_002294.2:p.(Ile19Thr)	NC_000001.10:g.66036171T>C	VUS	1 lab	9dc25746af
1:98015165 DPYD G>A	1	98015165	98015165	G	A	DPYD	c.1475C>T	NM_000110.4	NP_000101.2:p.(Ser492Leu)	NC_000001.10:g.98015165G>A	(Likely) pathogenic	1 lab	9dc4f1db33
9:72879251 SMC5 C>T	9	72879251	72879251	C	T	SMC5	c.217C>T	NM_015110.4	NP_055925.2:p.(Pro73Ser)	NC_000009.11:g.72879251C>T	VUS	1 lab	9dc5da4e8f
8:92082649 OTUD6B G>A	8	92082649	92082649	G	A	OTUD6B	c.37G>A	NM_016023.5	NP_057107.4:p.(Glu13Lys)	NC_000008.10:g.92082649G>A	VUS	1 lab	9dc69f3694
22:21083803 PI4KA A>G	22	21083803	21083803	A	G	PI4KA	c.4489-9T>C	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21083803A>G	(Likely) benign	1 lab	9dc6ff3e6a
6:111697629 REV3L CTCTTTA>C	6	111697629	111697636	CTCTTTA	C	REV3L	c.1689_1694del	NM_001286431.2	NP_001273360.1:p.(His563_Glu565delinsGln)	NC_000006.11:g.111697631_111697636del	(Likely) benign	1 lab	2721a11846
3:126201220 UROC1 C>T	3	126201220	126201220	C	T	UROC1	c.1999G>A	NM_144639.3	NP_653240.1:p.(Glu667Lys)	NC_000003.11:g.126201220C>T	(Likely) benign	1 lab	9dc99e4980
1:201012449 CACNA1S A>T	1	201012449	201012449	A	T	CACNA1S	c.5008T>A	NM_000069.3	NP_000060.2:p.(Tyr1670Asn)	NC_000001.10:g.201012449A>T	(Likely) benign	1 lab	9dcb4beb5b
12:124092070 DDX55 G>A	12	124092070	124092070	G	A	DDX55	c.338G>A	NM_020936.3	NP_065987.1:p.(Ser113Asn)	NC_000012.11:g.124092070G>A	VUS	1 lab	9dcbe958f1
X:48378851 PORCN G>A	X	48378851	48378851	G	A	PORCN	c.1373G>A	NM_203475.3	NP_982301.1:p.(Arg458His)	NC_000023.10:g.48378851G>A	(Likely) benign	1 lab	9dcc3dcc22
18:12329612 AFG3L2 CTCCTTGTTCCAG>C	18	12329612	12329629	CTCCTTGTTCCAG	C	AFG3L2	c.2334_2345del	NM_006796.3	NP_006787.2:p.(Asp778_Lys781del)	NC_000018.9:g.12329618_12329629del	VUS	1 lab	9dccef59f4
14:20837053 TEP1 C>T	14	20837053	20837053	C	T	TEP1	c.7665G>A	NM_007110.5	NP_009041.2:p.(Ser2555=)	NC_000014.8:g.20837053C>T	(Likely) benign	1 lab	9dcd364a76
11:108380620 EXPH5 T>C	11	108380620	108380620	T	C	EXPH5	c.5614A>G	NM_015065.3	NP_055880.2:p.(Thr1872Ala)	NC_000011.9:g.108380620T>C	(Likely) benign	1 lab	9dcd6abbf1
20:60942177 LAMA5 C>T	20	60942177	60942177	C	T	LAMA5	c.125G>A	NM_005560.6	NP_005551.3:p.(Gly42Asp)	NC_000020.10:g.60942177C>T	(Likely) benign	1 lab	9dcd8e47dc
11:61546700 MYRF TTGGCCCA>T	11	61546700	61546732	TTGGCCCA	T	MYRF	c.2014-9_2014-3del	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61546726_61546732del	(Likely) benign	1 lab	9dce6bfb7b
4:3491426 DOK7 G>C	4	3491426	3491426	G	C	DOK7	c.675G>C	NM_173660.5	NP_775931.3:p.(Ser225=)	NC_000004.11:g.3491426G>C	(Likely) benign	1 lab	9dd0af381d
19:50823858 KCNC3 A>T	19	50823858	50823858	A	T	KCNC3	c.2162T>A	NM_004977.3	NP_004968.2:p.(Ile721Asn)	NC_000019.9:g.50823858A>T	(Likely) benign	1 lab	9dd1318096
3:139086984 COPB2 T>C	3	139086984	139086984	T	C	COPB2	c.1545+3A>G	NM_004766.3	NP_004757.1:p.?	NC_000003.11:g.139086984T>C	VUS	1 lab	9dd28b225c
12:56094908 ITGA7 G>A	12	56094908	56094908	G	A	ITGA7	c.445C>T	NM_002206.3	NP_002197.2:p.(Arg149Ter)	NC_000012.11:g.56094908G>A	(Likely) pathogenic	1 lab	9dd30d2abc
14:65220117 SPTB G>A	14	65220117	65220117	G	A	SPTB	c.6602+138C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65220117G>A	(Likely) benign	1 lab	28a7626a97
22:50316902 CRELD2 G>A	22	50316902	50316902	G	A	CRELD2	c.709G>A	NM_024324.5	NP_077300.3:p.(Glu237Lys)	NC_000022.10:g.50316902G>A	VUS	1 lab	9dd41f7784
11:108178677 ATM C>T	11	108178677	108178677	C	T	ATM	c.5728C>T	NM_000051.4	NP_000042.3:p.(Leu1910Phe)	NC_000011.9:g.108178677C>T	VUS	1 lab	9dd757a455
5:14492691 TRIO A>G	5	14492691	14492691	A	G	TRIO	c.7648A>G	NM_007118.4	NP_009049.2:p.(Ser2550Gly)	NC_000005.9:g.14492691A>G	VUS	1 lab	9e80e027c0
11:94528334 AMOTL1 C>A	11	94528334	94528334	C	A	AMOTL1	c.199+8C>A	NM_130847.3	NP_570899.1:p.?	NC_000011.9:g.94528334C>A	(Likely) benign	1 lab	9dd8afe2ef
19:11105645 SMARCA4 C>T	19	11105645	11105645	C	T	SMARCA4	c.1561C>T	NM_001128849.3	NP_001122321.1:p.(Arg521Trp)	NC_000019.9:g.11105645C>T	(Likely) pathogenic	1 lab	27227e2e92
17:41256953 BRCA1 CT>C	17	41256953	41256954	CT	C	BRCA1	c.232del	NM_007294.4	NP_009225.1:p.(Arg78AspfsTer10)	NC_000017.10:g.41256954del	(Likely) pathogenic	1 lab	2723b81fc9
6:117243221 RFX6 G>T	6	117243221	117243221	G	T	RFX6	c.1344G>T	NM_173560.4	NP_775831.2:p.(Val448=)	NC_000006.11:g.117243221G>T	(Likely) benign	1 lab	9ddce5d2a3
1:160011784 KCNJ10 C>T	1	160011784	160011784	C	T	KCNJ10	c.539G>A	NM_002241.5	NP_002232.2:p.(Arg180His)	NC_000001.10:g.160011784C>T	VUS	1 lab	9dde0582a7
10:50678911 ERCC6 G>C	10	50678911	50678911	G	C	ERCC6	c.3095C>G	NM_000124.4	NP_000115.1:p.(Pro1032Arg)	NC_000010.10:g.50678911G>C	VUS	1 lab	9de17e3cd3
8:117875450 RAD21 G>A	8	117875450	117875450	G	A	RAD21	c.193C>T	NM_006265.3	NP_006256.1:p.(Arg65Ter)	NC_000008.10:g.117875450G>A	(Likely) pathogenic	1 lab	9de1cab9a6
9:40705403 SPATA31A3 G>C	9	40705403	40705403	G	C	SPATA31A3	c.3060G>C	NM_001083124.1	NP_001076593.1:p.(Lys1020Asn)	NC_000009.11:g.40705403G>C	VUS	1 lab	9de21d5a7c
17:60059739 MED13 C>T	17	60059739	60059739	C	T	MED13	c.3625G>A	NM_005121.3	NP_005112.2:p.(Asp1209Asn)	NC_000017.10:g.60059739C>T	(Likely) benign	1 lab	9de31bb99a
7:100859968 PLOD3 C>CT	7	100859968	100859969	C	CT	PLOD3	c.201+7dup	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100859969dup	(Likely) benign	1 lab	9de701ba7a
1:1273715 DVL1 G>A	1	1273715	1273715	G	A	DVL1	c.1441C>T	NM_001330311.2	NP_001317240.1:p.(Arg481Trp)	NC_000001.10:g.1273715G>A	VUS	1 lab	9de894bac9
14:105411242 AHNAK2 G>T	14	105411242	105411242	G	T	AHNAK2	c.10546C>A	NM_138420.4	NP_612429.2:p.(Leu3516Ile)	NC_000014.8:g.105411242G>T	VUS	1 lab	9de91432cc
3:150840682 MED12L C>T	3	150840682	150840682	C	T	MED12L	c.317C>T	NM_001393769.1	NP_001380698.1:p.(Thr106Ile)	NC_000003.11:g.150840682C>T	VUS	1 lab	9de91c4238
16:89371614 ANKRD11 C>T	16	89371614	89371614	C	T	ANKRD11	c.226G>A	NM_013275.6	NP_037407.4:p.(Glu76Lys)	NC_000016.9:g.89371614C>T	(Likely) pathogenic	1 lab	9deb02bb3f
15:43317056 UBR1 T>C	15	43317056	43317056	T	C	UBR1	c.2710A>G	NM_174916.3	NP_777576.1:p.(Asn904Asp)	NC_000015.9:g.43317056T>C	(Likely) benign	1 lab	9debd1eaa8
6:39847198 DAAM2 G>C	6	39847198	39847198	G	C	DAAM2	c.1790G>C	NM_001201427.2	NP_001188356.1:p.(Arg597Pro)	NC_000006.11:g.39847198G>C	(Likely) benign	1 lab	9dec4db4be
4:153271242 FBXW7 C>T	4	153271242	153271242	C	T	FBXW7	c.536G>A	NM_001349798.2	NP_001336727.1:p.(Arg179His)	NC_000004.11:g.153271242C>T	VUS	1 lab	9ded0482bc
10:78844472 KCNMA1 C>A	10	78844472	78844472	C	A	KCNMA1	c.1446G>T	NM_002247.4	NP_002238.2:p.(Glu482Asp)	NC_000010.10:g.78844472C>A	VUS	1 lab	2723fd72d4
14:32562947 ARHGAP5 C>G	14	32562947	32562947	C	G	ARHGAP5	c.3072C>G	NM_001030055.2	NP_001025226.1:p.(Thr1024=)	NC_000014.8:g.32562947C>G	VUS	1 lab	9def2e6a09
19:15281251 NOTCH3 G>A	19	15281251	15281251	G	A	NOTCH3	c.5005C>T	NM_000435.3	NP_000426.2:p.(Arg1669Cys)	NC_000019.9:g.15281251G>A	VUS	1 lab	9defb5c279
1:27120619 PIGV A>G	1	27120619	27120619	A	G	PIGV	c.94A>G	NM_017837.4	NP_060307.2:p.(Ile32Val)	NC_000001.10:g.27120619A>G	VUS	1 lab	9df1fbbd59
22:45996298 FBLN1 A>G	22	45996298	45996298	A	G	FBLN1	c.2084A>G	NM_006486.3	NP_006477.3:p.(His695Arg)	NC_000022.10:g.45996298A>G	(Likely) benign	1 lab	9df26b9113
10:94389958 KIF11 A>T	10	94389958	94389958	A	T	KIF11	c.1331A>T	NM_004523.4	NP_004514.2:p.(Lys444Ile)	NC_000010.10:g.94389958A>T	(Likely) benign	1 lab	9df33c0b35
X:67432055 OPHN1 C>A	X	67432055	67432055	C	A	OPHN1	c.598-1G>T	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67432055C>A	(Likely) pathogenic	1 lab	9df3ca98ef
2:241705486 KIF1A C>T	2	241705486	241705486	C	T	KIF1A	c.1685-276G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241705486C>T	(Likely) benign	1 lab	9df5aff25e
1:177921119 SEC16B G>A	1	177921119	177921119	G	A	SEC16B	c.1475C>T	NM_033127.4	NP_149118.2:p.(Thr492Met)	NC_000001.10:g.177921119G>A	VUS	1 lab	9df5df7be6
X:134425474 ZNF75D T>C	X	134425474	134425474	T	C	ZNF75D	c.620A>G	NM_007131.5	NP_009062.2:p.(Gln207Arg)	NC_000023.10:g.134425474T>C	(Likely) benign	1 lab	9df8c92fbc
X:13773314 OFD1 A>G	X	13773314	13773314	A	G	OFD1	c.1174A>G	NM_003611.3	NP_003602.1:p.(Lys392Glu)	NC_000023.10:g.13773314A>G	VUS	1 lab	9df944ead4
11:640061 DRD4 G>C	11	640061	640061	G	C	DRD4	c.812G>C	NM_000797.4	NP_000788.2:p.(Arg271Pro)	NC_000011.9:g.640061G>C	VUS	1 lab	9dfa702c51
9:135947016 CEL C>T	9	135947016	135947016	C	T	CEL	c.2127C>T	NM_001807.6	NP_001798.3:p.(Ser709=)	NC_000009.11:g.135947016C>T	(Likely) benign	1 lab	9dfad0e5ec
16:2158371 PKD1 C>G	16	2158371	2158371	C	G	PKD1	c.6797G>C	NM_001009944.3	NP_001009944.3:p.(Arg2266Pro)	NC_000016.9:g.2158371C>G	(Likely) pathogenic	1 lab	9dfb5aecf1
12:132414664 PUS1 G>A	12	132414664	132414664	G	A	PUS1	c.287G>A	NM_025215.6	NP_079491.2:p.(Gly96Asp)	NC_000012.11:g.132414664G>A	VUS	1 lab	9dfcff8d2f
1:18961618 PAX7 C>T	1	18961618	18961618	C	T	PAX7	c.335C>T	NM_001135254.2	NP_001128726.1:p.(Pro112Leu)	NC_000001.10:g.18961618C>T	VUS	1 lab	9dfd301c4d
1:223943299 CAPN2 G>A	1	223943299	223943299	G	A	CAPN2	c.1253G>A	NM_001748.5	NP_001739.3:p.(Arg418Gln)	NC_000001.10:g.223943299G>A	VUS	1 lab	9dfe46dc3b
5:140724723 PCDHGA1 G>T	5	140724723	140724723	G	T	PCDHGA1	c.2421+12051G>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140724723G>T	VUS	1 lab	9dff0cce75
2:26507038 HADHB A>T	2	26507038	26507038	A	T	HADHB	c.1115A>T	NM_000183.3	NP_000174.1:p.(Asp372Val)	NC_000002.11:g.26507038A>T	VUS	1 lab	9dff6bfc1f
14:75513869 MLH3 A>C	14	75513869	75513869	A	C	MLH3	c.2490T>G	NM_001040108.2	NP_001035197.1:p.(Phe830Leu)	NC_000014.8:g.75513869A>C	VUS	1 lab	9dff779d1b
7:50566868 DDC C>T	7	50566868	50566868	C	T	DDC	c.854G>A	NM_001082971.2	NP_001076440.2:p.(Arg285Gln)	NC_000007.13:g.50566868C>T	VUS	1 lab	9e01fd3720
3:46937261 PTH1R C>T	3	46937261	46937261	C	T	PTH1R	c.215C>T	NM_000316.3	NP_000307.1:p.(Ala72Val)	NC_000003.11:g.46937261C>T	(Likely) benign	1 lab	9e02e9f400
4:155533039 FGG C>T	4	155533039	155533039	C	T	FGG	c.319G>A	NM_021870.3	NP_068656.2:p.(Ala107Thr)	NC_000004.11:g.155533039C>T	VUS	1 lab	9e046c8f7a
7:91830054 KRIT1 G>A	7	91830054	91830054	G	A	KRIT1	c.2207C>T	NM_194454.3	NP_919436.1:p.(Ser736Leu)	NC_000007.13:g.91830054G>A	(Likely) benign	1 lab	9e05f61855
6:157099002 ARID1B ACGGCGGCGGCGG>A	6	157099002	157099015	ACGGCGGCGGCGG	A	ARID1B	c.190_201del	NM_001374828.1	NP_001361757.1:p.(Gly64_Gly67del)	NC_000006.11:g.157099004_157099015del	VUS	1 lab	9e06cd7c00
X:15408373 PIR C>T	X	15408373	15408373	C	T	PIR	c.694G>A	NM_001018109.3	NP_001018119.1:p.(Asp232Asn)	NC_000023.10:g.15408373C>T	VUS	1 lab	9e0a33bd6e
8:42231737 DKK4 G>C	8	42231737	42231737	G	C	DKK4	c.556C>G	NM_014420.3	NP_055235.1:p.(Gln186Glu)	NC_000008.10:g.42231737G>C	VUS	1 lab	9e0eb73b08
2:136673826 DARS1 C>T	2	136673826	136673826	C	T	DARS1	c.1076G>A	NM_001349.4	NP_001340.2:p.(Gly359Glu)	NC_000002.11:g.136673826C>T	VUS	1 lab	9e0ec41678
13:101728283 NALCN T>C	13	101728283	101728283	T	C	NALCN	c.3895A>G	NM_052867.4	NP_443099.1:p.(Thr1299Ala)	NC_000013.10:g.101728283T>C	VUS	1 lab	9e10f374f9
X:49126736 PPP1R3F T>C	X	49126736	49126736	T	C	PPP1R3F	c.404T>C	NM_033215.5	NP_149992.3:p.(Met135Thr)	NC_000023.10:g.49126736T>C	VUS	1 lab	9e11895ee2
15:99472776 IGF1R CTT>C	15	99472776	99472779	CTT	C	IGF1R	c.2783-9_2783-8del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99472778_99472779del	(Likely) benign	1 lab	9e12c28c80
6:39286808 KCNK16 G>A	6	39286808	39286808	G	A	KCNK16	c.315C>T	NM_001135106.2	NP_001128578.1:p.(Val105=)	NC_000006.11:g.39286808G>A	VUS	1 lab	9e12ffe490
17:7350250 CHRNB1 G>A	17	7350250	7350250	G	A	CHRNB1	c.342G>A	NM_000747.3	NP_000738.2:p.(Val114=)	NC_000017.10:g.7350250G>A	(Likely) benign	1 lab	28acd76e9c
17:56296088 MKS1 A>G	17	56296088	56296088	A	G	MKS1	c.83T>C	NM_017777.4	NP_060247.2:p.(Val28Ala)	NC_000017.10:g.56296088A>G	VUS	1 lab	9e3dc95409
16:88907463 GALNS G>A	16	88907463	88907463	G	A	GALNS	c.359C>T	NM_000512.5	NP_000503.1:p.(Ser120Leu)	NC_000016.9:g.88907463G>A	(Likely) benign	1 lab	9e15894a45
1:151108565 SEMA6C G>A	1	151108565	151108565	G	A	SEMA6C	c.1181C>T	NM_030913.6	NP_112175.2:p.(Thr394Ile)	NC_000001.10:g.151108565G>A	VUS	1 lab	9e17d31891
5:154272043 GEMIN5 C>T	5	154272043	154272043	C	T	GEMIN5	c.3664G>A	NM_015465.5	NP_056280.2:p.(Glu1222Lys)	NC_000005.9:g.154272043C>T	VUS	1 lab	9e1b4a7b51
22:24891462 UPB1 G>A	22	24891462	24891462	G	A	UPB1	c.91G>A	NM_016327.3	NP_057411.1:p.(Gly31Ser)	NC_000022.10:g.24891462G>A	VUS	1 lab	9e1b730af4
6:32944575 BRD2 T>C	6	32944575	32944575	T	C	BRD2	c.1062T>C	NM_001199455.1	NP_001186384.1:p.(Asn354=)	NC_000006.11:g.32944575T>C	(Likely) benign	1 lab	28afd55ed7
12:18719999 PIK3C2G A>G	12	18719999	18719999	A	G	PIK3C2G	c.4011+8A>G	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18719999A>G	(Likely) benign	1 lab	9e1cac0818
5:13820506 DNAH5 T>C	5	13820506	13820506	T	C	DNAH5	c.6790A>G	NM_001369.3	NP_001360.1:p.(Ser2264Gly)	NC_000005.9:g.13820506T>C	VUS	1 lab	9e1cba9172
16:16248895 ABCC6 G>A	16	16248895	16248895	G	A	ABCC6	c.3883-7C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16248895G>A	(Likely) benign	1 lab	9e1cce2331
7:96635394 DLX6 GCAGCAGCAGCAGCAGCAACAGCAACA>ACAGCC	7	96635394	96635420	GCAGCAGCAGCAGCAGCAACAGCAACA	ACAGCC	DLX6	c.105_131delinsACAGCC	NM_005222.4	NP_005213.3:p.(Gln37_Gln44delinsPro)	NC_000007.13:g.96635394_96635420delinsACAGCC	VUS	1 lab	9e1f6d1241
3:75787266 ZNF717 CCT>C	3	75787266	75787268	CCT	C	ZNF717	c.1506_1507del	NM_001290208.3	NP_001277137.1:p.(Glu504LysfsTer7)	NC_000003.11:g.75787267_75787268del	(Likely) benign	1 lab	9e1fc6756c
1:27103023 ARID1A CA>C	1	27103023	27103026	CA	C	ARID1A	c.5124+828del	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27103026del	(Likely) benign	1 lab	9e21f0d4d3
7:94057751 COL1A2 C>T	7	94057751	94057751	C	T	COL1A2	c.3673C>T	NM_000089.4	NP_000080.2:p.(His1225Tyr)	NC_000007.13:g.94057751C>T	(Likely) benign	1 lab	9e230395b5
6:30640404 DHX16 G>C	6	30640404	30640404	G	C	DHX16	c.207+8C>G	NM_003587.5	NP_003578.2:p.?	NC_000006.11:g.30640404G>C	(Likely) benign	1 lab	9e244c3677
11:2675279 KCNQ1OT1 G>T	11	2675279	2675279	G	T	KCNQ1OT1	n.45950C>A	NR_002728.3		NC_000011.9:g.2675279G>T	VUS	1 lab	2726978945
2:108604730 SLC5A7 A>C	2	108604730	108604730	A	C	SLC5A7	c.119A>C	NM_021815.5	NP_068587.1:p.(Glu40Ala)	NC_000002.11:g.108604730A>C	VUS	1 lab	9e25e196db
12:31242329 DDX11 T>C	12	31242329	31242329	T	C	DDX11	c.793-8T>C	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31242329T>C	(Likely) benign	1 lab	9e272639d2
15:43290382 UBR1 A>T	15	43290382	43290382	A	T	UBR1	c.3741T>A	NM_174916.3	NP_777576.1:p.(Asn1247Lys)	NC_000015.9:g.43290382A>T	(Likely) benign	1 lab	9e27d84e60
2:241808590 AGXT A>G	2	241808590	241808590	A	G	AGXT	c.169A>G	NM_000030.3	NP_000021.1:p.(Met57Val)	NC_000002.11:g.241808590A>G	VUS	1 lab	9e281de77e
9:131418906 DYNC2I2 G>A	9	131418906	131418906	G	A	DYNC2I2	c.100C>T	NM_052844.4	NP_443076.2:p.(Arg34Trp)	NC_000009.11:g.131418906G>A	(Likely) benign	1 lab	9e283723df
19:5896578 NDUFA11 C>T	19	5896578	5896578	C	T	NDUFA11	c.199G>A	NM_175614.5	NP_783313.1:p.(Gly67Arg)	NC_000019.9:g.5896578C>T	VUS	1 lab	9e2b01d23f
20:34542268 SCAND1 G>A	20	34542268	34542268	G	A	SCAND1	c.-55-7C>T	NM_033630.3	NP_361012.3:p.?	NC_000020.10:g.34542268G>A	(Likely) benign	1 lab	9e2baa9fcf
12:54332733 HOXC13 C>CTTA	12	54332733	54332737	C	CTTA	HOXC13	c.45_47dup	NM_017410.3	NP_059106.2:p.(Leu15_Met16insIle)	NC_000012.11:g.54332735_54332737dup	(Likely) benign	1 lab	9e2be6233d
22:42305801 SHISA8 T>C	22	42305801	42305801	T	C	SHISA8	c.1162A>G	NM_001207020.3	NP_001193949.1:p.(Arg388Gly)	NC_000022.10:g.42305801T>C	(Likely) benign	1 lab	9e30ab7941
13:50102794 PHF11 C>A	13	50102794	50102794	C	A	PHF11	c.989C>A	NM_001040443.3	NP_001035533.1:p.(Ser330Tyr)	NC_000013.10:g.50102794C>A	VUS	1 lab	9e32e14088
1:17287612 CROCC C>G	1	17287612	17287612	C	G	CROCC	c.4392C>G	NM_014675.5	NP_055490.4:p.(Asp1464Glu)	NC_000001.10:g.17287612C>G	(Likely) benign	1 lab	9e3315fc7d
12:109939271 UBE3B A>G	12	109939271	109939271	A	G	UBE3B	c.1214A>G	NM_130466.4	NP_569733.2:p.(Lys405Arg)	NC_000012.11:g.109939271A>G	VUS	1 lab	9e33656fea
X:153657414 ATP6AP1 C>G	X	153657414	153657414	C	G	ATP6AP1	c.182C>G	NM_001183.6	NP_001174.2:p.(Ala61Gly)	NC_000023.10:g.153657414C>G	(Likely) benign	1 lab	9e35ed3537
4:77660093 SHROOM3 G>A	4	77660093	77660093	G	A	SHROOM3	c.767G>A	NM_020859.4	NP_065910.3:p.(Arg256Lys)	NC_000004.11:g.77660093G>A	(Likely) benign	1 lab	9e3693b73e
11:119155764 CBL G>A	11	119155764	119155764	G	A	CBL	c.1517G>A	NM_005188.4	NP_005179.2:p.(Arg506Gln)	NC_000011.9:g.119155764G>A	VUS	1 lab	9e396bb6c3
7:27224495 HOXA11 TGCACGA>T	7	27224495	27224503	TGCACGA	T	HOXA11	c.263_268del	NM_005523.6	NP_005514.1:p.(Leu88_Val89del)	NC_000007.13:g.27224498_27224503del	VUS	1 lab	9e398737aa
13:35731316 NBEA A>C	13	35731316	35731316	A	C	NBEA	c.2753A>C	NM_001385012.1	NP_001371941.1:p.(Asn918Thr)	NC_000013.10:g.35731316A>C	(Likely) benign	1 lab	9e3a407617
9:129854096 ANGPTL2 CAA>C	9	129854096	129854099	CAA	C	ANGPTL2	c.1133_1134del	NM_012098.3	NP_036230.1:p.(Phe378CysfsTer11)	NC_000009.11:g.129854098_129854099del	VUS	1 lab	9e3af4cffe
6:152563419 SYNE1 C>T	6	152563419	152563419	C	T	SYNE1	c.19849G>A	NM_182961.4	NP_892006.3:p.(Val6617Met)	NC_000006.11:g.152563419C>T	VUS	1 lab	9e3b3911df
4:3076629 HTT AGC>A	4	3076629	3076631	AGC	A	HTT	c.78_79del	NM_001388492.1	NP_001375421.1:p.(Gln27AlafsTer55)	NC_000004.11:g.3076630_3076631del	VUS	1 lab	9e3c663578
13:39430269 FREM2 A>G	13	39430269	39430269	A	G	FREM2	c.6932A>G	NM_207361.6	NP_997244.4:p.(Glu2311Gly)	NC_000013.10:g.39430269A>G	VUS	1 lab	9e3d1dbbf1
11:62288639 AHNAK G>A	11	62288639	62288639	G	A	AHNAK	c.13250C>T	NM_001620.3	NP_001611.1:p.(Pro4417Leu)	NC_000011.9:g.62288639G>A	VUS	1 lab	9e3d2bdcb2
2:96546376 ANKRD36C C>G	2	96546376	96546376	C	G	ANKRD36C	c.4388-5G>C	NM_001393982.1	NP_001380911.1:p.?	NC_000002.11:g.96546376C>G	(Likely) benign	1 lab	9e3d827c5b
10:79579722 DLG5 C>T	10	79579722	79579722	C	T	DLG5	c.3457G>A	NM_004747.4	NP_004738.3:p.(Ala1153Thr)	NC_000010.10:g.79579722C>T	(Likely) benign	1 lab	9e3dfc9d53
17:41246785 BRCA1 C>A	17	41246785	41246785	C	A	BRCA1	c.763G>T	NM_007294.4	NP_009225.1:p.(Glu255Ter)	NC_000017.10:g.41246785C>A	(Likely) pathogenic	1 lab	9e3f2901e5
8:1873453 ARHGEF10 G>A	8	1873453	1873453	G	A	ARHGEF10	c.2493G>A	NM_014629.4	NP_055444.2:p.(Glu831=)	NC_000008.10:g.1873453G>A	(Likely) benign	1 lab	9e40d35915
5:140907257 DIAPH1 AGC>A	5	140907257	140907259	AGC	A	DIAPH1	c.3154_3155del	NM_005219.5	NP_005210.3:p.(Ala1052Ter)	NC_000005.9:g.140907258_140907259del	(Likely) benign	1 lab	9e428b4dcc
3:47176358 SETD2 C>T	3	47176358	47176358	C	T	SETD2	c.72-8205G>A	NM_014159.7	NP_054878.5:p.?	NC_000003.11:g.47176358C>T	(Likely) benign	1 lab	9e43381cd8
16:14014035 ERCC4 C>T	16	14014035	14014035	C	T	ERCC4	c.13C>T	NM_005236.3	NP_005227.1:p.(Gln5Ter)	NC_000016.9:g.14014035C>T	(Likely) pathogenic	1 lab	9e43eefa5d
1:119474249 TBX15 C>T	1	119474249	119474249	C	T	TBX15	c.412G>A	NM_001330677.2	NP_001317606.1:p.(Ala138Thr)	NC_000001.10:g.119474249C>T	VUS	1 lab	9e43ffb48a
12:125478381 BRI3BP C>CCTGCTGCTG	12	125478381	125478410	C	CCTGCTGCTG	BRI3BP	c.66_74dup	NM_080626.6	NP_542193.3:p.(Leu23_Leu25dup)	NC_000012.11:g.125478402_125478410dup	VUS	1 lab	9e44ab113e
11:31531470 ELP4 G>T	11	31531470	31531470	G	T	ELP4	c.139G>T	NM_019040.5	NP_061913.3:p.(Val47Leu)	NC_000011.9:g.31531470G>T	(Likely) benign	1 lab	9e44b95088
7:100648294 MUC12 C>G	7	100648294	100648294	C	G	MUC12	c.14450C>G	NM_001164462.2	NP_001157934.1:p.(Ser4817Cys)	NC_000007.13:g.100648294C>G	VUS	1 lab	9e451bb90a
8:70488314 SULF1 G>A	8	70488314	70488314	G	A	SULF1	c.282G>A	NM_001128205.2	NP_001121677.1:p.(Met94Ile)	NC_000008.10:g.70488314G>A	VUS	1 lab	9e45eba452
17:56770093 RAD51C CG>C	17	56770093	56770097	CG	C	RAD51C	c.93del	NM_058216.3	NP_478123.1:p.(Phe32SerfsTer8)	NC_000017.10:g.56770097del	(Likely) pathogenic	1 lab	9e46905c9c
19:11545690 ODAD3 G>A	19	11545690	11545690	G	A	ODAD3	c.148C>T	NM_145045.5	NP_659482.3:p.(Pro50Ser)	NC_000019.9:g.11545690G>A	(Likely) benign	1 lab	9e46b5a116
2:121745906 GLI2 C>T	2	121745906	121745906	C	T	GLI2	c.2365C>T	NM_001374353.1	NP_001361282.1:p.(Arg789Cys)	NC_000002.11:g.121745906C>T	VUS	1 lab	9e48453b05
17:73512913 TSEN54 C>T	17	73512913	73512913	C	T	TSEN54	c.143C>T	NM_207346.3	NP_997229.2:p.(Ser48Leu)	NC_000017.10:g.73512913C>T	VUS	1 lab	9e4a43ee21
21:47663396 MCM3AP C>CG	21	47663396	47663403	C	CG	MCM3AP	c.5278dup	NM_003906.5	NP_003897.2:p.(Arg1760ProfsTer11)	NC_000021.8:g.47663403dup	(Likely) pathogenic	1 lab	9e4b5f6166
9:135946692 CEL C>T	9	135946692	135946692	C	T	CEL	c.1803C>T	NM_001807.6	NP_001798.3:p.(Ala601=)	NC_000009.11:g.135946692C>T	(Likely) benign	1 lab	9e4b79c40b
19:33698426 LRP3 C>T	19	33698426	33698426	C	T	LRP3	c.2258C>T	NM_002333.4	NP_002324.2:p.(Pro753Leu)	NC_000019.9:g.33698426C>T	VUS	1 lab	9e4cbce96a
1:11893663 CLCN6 A>G	1	11893663	11893663	A	G	CLCN6	c.1340A>G	NM_001286.5	NP_001277.2:p.(Glu447Gly)	NC_000001.10:g.11893663A>G	VUS	1 lab	9e4e0de2d4
9:109688970 ZNF462 G>A	9	109688970	109688970	G	A	ZNF462	c.2777G>A	NM_021224.6	NP_067047.4:p.(Arg926Gln)	NC_000009.11:g.109688970G>A	(Likely) benign	1 lab	9e4ea4eb40
4:123664840 BBS12 A>G	4	123664840	123664840	A	G	BBS12	c.1793A>G	NM_152618.3	NP_689831.2:p.(Tyr598Cys)	NC_000004.11:g.123664840A>G	(Likely) pathogenic	1 lab	28b1f9676f
6:157099402 ARID1B C>CCAGCAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAA	6	157099402	157099416	C	CCAGCAGCAGCAGCTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAA	ARID1B	c.601_602insTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGC	NM_001374828.1	NP_001361757.1:p.(Gln200_Gln201insLeuAsnGlnPheGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000006.11:g.157099415_157099416insTAAACCAGTTCCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGC	VUS	1 lab	9e4fa45944
17:62029199 SCN4A G>A	17	62029199	62029199	G	A	SCN4A	c.2438C>T	NM_000334.4	NP_000325.4:p.(Ser813Leu)	NC_000017.10:g.62029199G>A	(Likely) benign	1 lab	9e52cee7ef
6:52319004 EFHC1 C>T	6	52319004	52319004	C	T	EFHC1	c.835C>T	NM_018100.4	NP_060570.2:p.(His279Tyr)	NC_000006.11:g.52319004C>T	VUS	1 lab	27278c6c80
3:49698254 BSN AGACCGGGGT>A	3	49698254	49698264	AGACCGGGGT	A	BSN	c.8978_8986del	NM_003458.4	NP_003449.2:p.(Asp2993_Gly2995del)	NC_000003.11:g.49698256_49698264del	VUS	1 lab	9e540e6ff0
5:127693075 FBN2 C>G	5	127693075	127693075	C	G	FBN2	c.2567G>C	NM_001999.4	NP_001990.2:p.(Cys856Ser)	NC_000005.9:g.127693075C>G	VUS	1 lab	9e5669d573
2:241905405 CROCC2 C>A	2	241905405	241905405	C	A	CROCC2	c.3956C>A	NM_001351305.2	NP_001338234.1:p.(Thr1319Asn)	NC_000002.11:g.241905405C>A	VUS	1 lab	9e58179b82
4:1808840 FGFR3 C>T	4	1808840	1808840	C	T	FGFR3	c.2275-3C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808840C>T	(Likely) benign	1 lab	9e59bdaebd
13:32954012 BRCA2 T>C	13	32954012	32954012	T	C	BRCA2	c.9079T>C	NM_000059.4	NP_000050.3:p.(Leu3027=)	NC_000013.10:g.32954012T>C	(Likely) benign	1 lab	9e5a577814
2:73613298 ALMS1 G>A	2	73613298	73613298	G	A	ALMS1	c.302G>A	NM_001378454.1	NP_001365383.1:p.(Gly101Asp)	NC_000002.11:g.73613298G>A	(Likely) benign	1 lab	9e5c5026e0
9:35800800 NPR2 C>T	9	35800800	35800800	C	T	NPR2	c.1313C>T	NM_003995.4	NP_003986.2:p.(Pro438Leu)	NC_000009.11:g.35800800C>T	VUS	1 lab	9e5c62c2b2
6:30997603 MUC22 CAACACAGCCTGT>C	6	30997603	30997616	CAACACAGCCTGT	C	MUC22	c.4397_4408del	NM_001395414.1	NP_001382343.1:p.(Asn1466_Cys1469del)	NC_000006.11:g.30997605_30997616del	(Likely) benign	1 lab	9e5d32d583
11:71202891 NADSYN1 C>T	11	71202891	71202891	C	T	NADSYN1	c.1706C>T	NM_018161.5	NP_060631.2:p.(Ala569Val)	NC_000011.9:g.71202891C>T	VUS	1 lab	9e5d8a323d
12:57109669 NACA G>C	12	57109669	57109669	G	C	NACA	c.5645C>G	NM_001365896.1	NP_001352825.1:p.(Thr1882Arg)	NC_000012.11:g.57109669G>C	(Likely) benign	1 lab	9e5d9925e0
16:47644727 PHKB T>C	16	47644727	47644727	T	C	PHKB	c.1364-10T>C	NM_000293.3	NP_000284.1:p.?	NC_000016.9:g.47644727T>C	(Likely) benign	1 lab	9e5dede029
20:947888 RSPO4 A>G	20	947888	947888	A	G	RSPO4	c.338T>C	NM_001029871.4	NP_001025042.2:p.(Leu113Ser)	NC_000020.10:g.947888A>G	VUS	1 lab	9e5e526e17
7:65557574 ASL G>A	7	65557574	65557574	G	A	ASL	c.1174G>A	NM_000048.4	NP_000039.2:p.(Gly392Arg)	NC_000007.13:g.65557574G>A	VUS	1 lab	9e5fd42357
19:1469841 APC2 C>T	19	1469841	1469841	C	T	APC2	c.6541C>T	NM_005883.3	NP_005874.1:p.(Pro2181Ser)	NC_000019.9:g.1469841C>T	(Likely) benign	1 lab	9e62694cdd
13:31035497 HMGB1 TTCA>T	13	31035497	31035511	TTCA	T	HMGB1	c.642_644del	NM_002128.7	NP_002119.1:p.(Asp214del)	NC_000013.10:g.31035509_31035511del	(Likely) benign	1 lab	9e62ce2d33
11:124793762 HEPACAM G>A	11	124793762	124793762	G	A	HEPACAM	c.572C>T	NM_152722.5	NP_689935.2:p.(Ser191Leu)	NC_000011.9:g.124793762G>A	(Likely) benign	1 lab	9e63ce8122
11:46900688 LRP4 C>T	11	46900688	46900688	C	T	LRP4	c.2993G>A	NM_002334.4	NP_002325.2:p.(Arg998His)	NC_000011.9:g.46900688C>T	(Likely) benign	1 lab	9e646e24fb
X:70148442 SLC7A3 T>C	X	70148442	70148442	T	C	SLC7A3	c.571A>G	NM_032803.6	NP_116192.4:p.(Lys191Glu)	NC_000023.10:g.70148442T>C	VUS	1 lab	9e64f559c6
3:125873491 ALDH1L1 G>A	3	125873491	125873491	G	A	ALDH1L1	c.631-5C>T	NM_012190.4	NP_036322.2:p.?	NC_000003.11:g.125873491G>A	(Likely) benign	1 lab	9e65211888
4:57356562 SRP72 C>T	4	57356562	57356562	C	T	SRP72	c.1384C>T	NM_006947.4	NP_008878.3:p.(Arg462Trp)	NC_000004.11:g.57356562C>T	VUS	1 lab	9e65eb5baa
14:76432028 TGFB3 T>A	14	76432028	76432028	T	A	TGFB3	c.657A>T	NM_003239.5	NP_003230.1:p.(Leu219Phe)	NC_000014.8:g.76432028T>A	VUS	1 lab	2728c153cc
X:152860070 CCNQ C>T	X	152860070	152860070	C	T	CCNQ	c.364G>A	NM_152274.5	NP_689487.2:p.(Val122Met)	NC_000023.10:g.152860070C>T	VUS	1 lab	9e6667dff2
16:2158275 PKD1 C>G	16	2158275	2158275	C	G	PKD1	c.6893G>C	NM_001009944.3	NP_001009944.3:p.(Trp2298Ser)	NC_000016.9:g.2158275C>G	VUS	1 lab	9e692a4ca4
16:70863634 HYDIN C>A	16	70863634	70863634	C	A	HYDIN	c.13999G>T	NM_001270974.2	NP_001257903.1:p.(Gly4667Cys)	NC_000016.9:g.70863634C>A	VUS	1 lab	9e6a2bd895
8:65494007 BHLHE22 T>TAGCGGC	8	65494007	65494019	T	TAGCGGC	BHLHE22	c.667_672dup	NM_152414.5	NP_689627.1:p.(Ser223_Gly224dup)	NC_000008.10:g.65494014_65494019dup	VUS	1 lab	9e6c20cc56
16:14980636 NOMO1 G>A	16	14980636	14980636	G	A	NOMO1	c.3241G>A	NM_014287.4	NP_055102.3:p.(Glu1081Lys)	NC_000016.9:g.14980636G>A	(Likely) benign	1 lab	9e6f68ae03
17:57724876 CLTC C>T	17	57724876	57724876	C	T	CLTC	c.368C>T	NM_004859.4	NP_004850.1:p.(Thr123Met)	NC_000017.10:g.57724876C>T	VUS	1 lab	9e700a367b
17:61995188 GH1 C>T	17	61995188	61995188	C	T	GH1	c.388G>A	NM_000515.5	NP_000506.2:p.(Gly130Ser)	NC_000017.10:g.61995188C>T	VUS	1 lab	9e7043afb1
19:13397339 CACNA1A G>C	19	13397339	13397339	G	C	CACNA1A	c.3531C>G	NM_001127222.2	NP_001120694.1:p.(Pro1177=)	NC_000019.9:g.13397339G>C	(Likely) benign	1 lab	9e70f8382a
1:26769228 DHDDS C>T	1	26769228	26769228	C	T	DHDDS	c.187C>T	NM_205861.3	NP_995583.1:p.(Arg63Trp)	NC_000001.10:g.26769228C>T	VUS	1 lab	9eb914f38b
2:220354243 SPEG C>G	2	220354243	220354243	C	G	SPEG	c.8503C>G	NM_005876.5	NP_005867.3:p.(Leu2835Val)	NC_000002.11:g.220354243C>G	VUS	1 lab	9e71d96125
22:35777193 HMOX1 A>G	22	35777193	35777193	A	G	HMOX1	c.23+4A>G	NM_002133.3	NP_002124.1:p.?	NC_000022.10:g.35777193A>G	VUS	1 lab	9e725b1a8c
22:21336680 LZTR1 C>CG	22	21336680	21336687	C	CG	LZTR1	c.27dup	NM_006767.4	NP_006758.2:p.(Gln10AlafsTer24)	NC_000022.10:g.21336687dup	(Likely) pathogenic	1 lab	9e74ffb241
13:113536239 ATP11A ACT>A	13	113536239	113536244	ACT	A	ATP11A	c.*63_*64del	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113536243_113536244del	(Likely) benign	1 lab	9e75b98cd8
16:81390481 GAN G>A	16	81390481	81390481	G	A	GAN	c.725G>A	NM_022041.4	NP_071324.1:p.(Arg242Gln)	NC_000016.9:g.81390481G>A	VUS	1 lab	9e762ef6b8
17:59534928 TBX4 G>A	17	59534928	59534928	G	A	TBX4	c.217G>A	NM_001321120.2	NP_001308049.1:p.(Glu73Lys)	NC_000017.10:g.59534928G>A	VUS	1 lab	9e7669b2b1
2:121494402 GLI2 C>T	2	121494402	121494402	C	T	GLI2	c.-31+541C>T	NM_001374353.1	NP_001361282.1:p.?	NC_000002.11:g.121494402C>T	(Likely) benign	1 lab	9e77c7f529
2:179312316 PRKRA G>GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCACATTCATAAACTGGGATGTTCTTGGTCTTCATGCCGTATTCGTGT	2	179312316	179312317	G	GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCACATTCATAAACTGGGATGTTCTTGGTCTTCATGCCGTATTCGTGT	PRKRA	c.236-4_236-3insACACGAATACGGCATGAAGACCAAGAACATCCCAGTTTATGAATGTGAAAGATCTGGTGTGCAAATACACGTGCCCACTTTCACCTTCAGAGTAACCGTTGGTGACATAACCTGCA	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179312316_179312317insTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACACCAGATCTTTCACATTCATAAACTGGGATGTTCTTGGTCTTCATGCCGTATTCGTGT	VUS	1 lab	9e77e63451
6:20402594 E2F3 T>TCGCCGC	6	20402594	20402612	T	TCGCCGC	E2F3	c.144_149dup	NM_001949.5	NP_001940.1:p.(Ala52_Ala53dup)	NC_000006.11:g.20402607_20402612dup	(Likely) benign	1 lab	28b65db7ec
5:171295676 FBXW11 C>T	5	171295676	171295676	C	T	FBXW11	c.1655G>A	NM_001378974.1	NP_001365903.1:p.(Arg552His)	NC_000005.9:g.171295676C>T	(Likely) benign	1 lab	9e79460339
5:149360237 SLC26A2 G>A	5	149360237	149360237	G	A	SLC26A2	c.1081G>A	NM_000112.4	NP_000103.2:p.(Ala361Thr)	NC_000005.9:g.149360237G>A	VUS	1 lab	9e7979944a
11:103047082 DYNC2H1 G>C	11	103047082	103047082	G	C	DYNC2H1	c.5793G>C	NM_001377.3	NP_001368.2:p.(Leu1931Phe)	NC_000011.9:g.103047082G>C	VUS	1 lab	9e79b84b26
11:108114745 ATM G>T	11	108114745	108114745	G	T	ATM	c.562G>T	NM_000051.4	NP_000042.3:p.(Ala188Ser)	NC_000011.9:g.108114745G>T	VUS	1 lab	272bbad06f
4:9213877 USP17L10 T>A	4	9213877	9213877	T	A	USP17L10	c.1495T>A	NM_001256852.1	NP_001243781.1:p.(Ser499Thr)	NC_000004.11:g.9213877T>A	(Likely) benign	1 lab	9e7b519272
19:39056308 RYR1 C>G	19	39056308	39056308	C	G	RYR1	c.13334C>G	NM_000540.3	NP_000531.2:p.(Pro4445Arg)	NC_000019.9:g.39056308C>G	VUS	1 lab	9e7d68899d
9:109688538 ZNF462 A>T	9	109688538	109688538	A	T	ZNF462	c.2345A>T	NM_021224.6	NP_067047.4:p.(Asn782Ile)	NC_000009.11:g.109688538A>T	(Likely) benign	1 lab	9e7dda68d7
1:205131208 DSTYK G>A	1	205131208	205131208	G	A	DSTYK	c.1774C>T	NM_015375.3	NP_056190.1:p.(Arg592Trp)	NC_000001.10:g.205131208G>A	VUS	1 lab	9e80286182
2:141283470 LRP1B A>G	2	141283470	141283470	A	G	LRP1B	c.7969T>C	NM_018557.3	NP_061027.2:p.(Trp2657Arg)	NC_000002.11:g.141283470A>G	VUS	1 lab	9e819eba1c
12:133218443 POLE C>G	12	133218443	133218443	C	G	POLE	c.5174-6G>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133218443C>G	VUS	1 lab	9e8236e11d
16:28877308 SH2B1 G>A	16	28877308	28877308	G	A	SH2B1	c.-108G>A	NM_001387430.1	NP_001374359.1:p.?	NC_000016.9:g.28877308G>A	VUS	1 lab	9e824b1e47
1:44684917 DMAP1 C>T	1	44684917	44684917	C	T	DMAP1	c.906+4C>T	NM_019100.5	NP_061973.1:p.?	NC_000001.10:g.44684917C>T	VUS	1 lab	9e82efb10c
8:77616270 ZFHX4 T>G	8	77616270	77616270	T	G	ZFHX4	c.-46-8T>G	NM_024721.5	NP_078997.4:p.?	NC_000008.10:g.77616270T>G	(Likely) benign	1 lab	9e84797a9c
11:17113578 PIK3C2A C>T	11	17113578	17113578	C	T	PIK3C2A	c.4607G>A	NM_002645.4	NP_002636.2:p.(Arg1536His)	NC_000011.9:g.17113578C>T	VUS	1 lab	9e84d4feb5
5:140589294 PCDHB12 G>T	5	140589294	140589294	G	T	PCDHB12	c.815G>T	NM_018932.4	NP_061755.1:p.(Gly272Val)	NC_000005.9:g.140589294G>T	VUS	1 lab	9e87beffec
21:47545831 COL6A2 C>A	21	47545831	47545831	C	A	COL6A2	c.2102C>A	NM_001849.4	NP_001840.3:p.(Thr701Asn)	NC_000021.8:g.47545831C>A	VUS	1 lab	9e889d048b
19:55286772 KIR2DL1 AAG>A	19	55286772	55286774	AAG	A	KIR2DL1	c.527_528del	NM_014218.3	NP_055033.2:p.(Lys176SerfsTer8)	NC_000019.9:g.55286773_55286774del	VUS	1 lab	9e8b5b75b5
19:18899705 COMP G>C	19	18899705	18899705	G	C	COMP	c.546C>G	NM_000095.3	NP_000086.2:p.(Asn182Lys)	NC_000019.9:g.18899705G>C	VUS	1 lab	9e8d76e0b1
21:40189024 ETS2 G>A	21	40189024	40189024	G	A	ETS2	c.589+9G>A	NM_005239.6	NP_005230.1:p.?	NC_000021.8:g.40189024G>A	(Likely) benign	1 lab	9e90c82897
5:74491646 ANKRD31 A>C	5	74491646	74491646	A	C	ANKRD31	c.827T>G	NM_001372053.1	NP_001358982.1:p.(Leu276Ter)	NC_000005.9:g.74491646A>C	VUS	1 lab	9e9238edfe
18:47462671 MYO5B G>C	18	47462671	47462671	G	C	MYO5B	c.1954C>G	NM_001080467.3	NP_001073936.1:p.(Pro652Ala)	NC_000018.9:g.47462671G>C	VUS	1 lab	9e934f5a97
16:3633329 SLX4 A>AC	16	3633329	3633333	A	AC	SLX4	c.4921dup	NM_032444.4	NP_115820.2:p.(Val1641GlyfsTer15)	NC_000016.9:g.3633333dup	VUS	1 lab	9e936f5fdf
7:83021976 SEMA3E A>G	7	83021976	83021976	A	G	SEMA3E	c.1562T>C	NM_012431.3	NP_036563.1:p.(Met521Thr)	NC_000007.13:g.83021976A>G	VUS	1 lab	9e94b8d8b4
17:4721648 PLD2 T>G	17	4721648	4721648	T	G	PLD2	c.1977T>G	NM_002663.5	NP_002654.3:p.(Asp659Glu)	NC_000017.10:g.4721648T>G	(Likely) benign	1 lab	9e96a1a22c
X:19389462 MAP3K15 C>T	X	19389462	19389462	C	T	MAP3K15	c.3294+1G>A	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19389462C>T	(Likely) benign	1 lab	9e96a4bce0
X:15618958 ACE2 T>C	X	15618958	15618958	T	C	ACE2	c.77A>G	NM_001371415.1	NP_001358344.1:p.(Lys26Arg)	NC_000023.10:g.15618958T>C	(Likely) benign	1 lab	9e96cc85dc
1:155233806 CLK2 G>A	1	155233806	155233806	G	A	CLK2	c.1252C>T	NM_001294338.2	NP_001281267.1:p.(Arg418Cys)	NC_000001.10:g.155233806G>A	VUS	1 lab	9e975eca8a
16:3824571 CREBBP C>A	16	3824571	3824571	C	A	CREBBP	c.2282G>T	NM_004380.3	NP_004371.2:p.(Gly761Val)	NC_000016.9:g.3824571C>A	VUS	1 lab	9e98b9eaff
11:1643006 KRTAP5-4 G>GCCCCCACAGGAGCCACAGCCCCCCTTGGACCCCCCACAGGAGACACAGCCCCCCTTGGAA	11	1643006	1643036	G	GCCCCCACAGGAGCCACAGCCCCCCTTGGACCCCCCACAGGAGACACAGCCCCCCTTGGAA	KRTAP5-4	c.317_318insTTCCAAGGGGGGCTGTGTCTCCTGTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	NM_001347674.1	NP_001334603.1:p.(Val92_Cys111dup)	NC_000011.9:g.1643035_1643036insCCCCCCACAGGAGACACAGCCCCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGA	(Likely) benign	1 lab	9e98c2db32
8:105440273 DPYS T>C	8	105440273	105440273	T	C	DPYS	c.1027A>G	NM_001385.3	NP_001376.1:p.(Thr343Ala)	NC_000008.10:g.105440273T>C	VUS	1 lab	9e99721450
21:41455898 DSCAM T>C	21	41455898	41455898	T	C	DSCAM	c.4168A>G	NM_001389.5	NP_001380.2:p.(Thr1390Ala)	NC_000021.8:g.41455898T>C	VUS	1 lab	9e9b1980be
8:100865816 VPS13B C>G	8	100865816	100865816	C	G	VPS13B	c.10199C>G	NM_152564.5	NP_689777.3:p.(Pro3400Arg)	NC_000008.10:g.100865816C>G	VUS	1 lab	9e9dffedd0
20:62680162 SOX18 C>A	20	62680162	62680162	C	A	SOX18	c.512G>T	NM_018419.3	NP_060889.1:p.(Gly171Val)	NC_000020.10:g.62680162C>A	VUS	1 lab	9e9e387fcd
10:75510890 SEC24C C>T	10	75510890	75510890	C	T	SEC24C	c.197C>T	NM_004922.4	NP_004913.2:p.(Ser66Leu)	NC_000010.10:g.75510890C>T	VUS	1 lab	272e66e820
9:94495396 ROR2 G>A	9	94495396	94495396	G	A	ROR2	c.937+8C>T	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94495396G>A	(Likely) benign	1 lab	9e9fe15fc2
6:130762588 TMEM200A G>C	6	130762588	130762588	G	C	TMEM200A	c.1021G>C	NM_001258277.2	NP_001245206.1:p.(Val341Leu)	NC_000006.11:g.130762588G>C	(Likely) benign	1 lab	9ea0139391
16:70993639 HYDIN C>T	16	70993639	70993639	C	T	HYDIN	c.6053G>A	NM_001270974.2	NP_001257903.1:p.(Arg2018His)	NC_000016.9:g.70993639C>T	(Likely) benign	1 lab	9ea453a8db
5:32774944 NPR3 T>C	5	32774944	32774944	T	C	NPR3	c.1190T>C	NM_001204375.2	NP_001191304.1:p.(Phe397Ser)	NC_000005.9:g.32774944T>C	(Likely) pathogenic	1 lab	9ea4ed6d8d
5:58270871 PDE4D C>T	5	58270871	58270871	C	T	PDE4D	c.2050G>A	NM_001104631.2	NP_001098101.1:p.(Glu684Lys)	NC_000005.9:g.58270871C>T	(Likely) pathogenic	1 lab	9ea6a0d4ad
3:151090543 MED12L A>G	3	151090543	151090543	A	G	MED12L	c.3853A>G	NM_001393769.1	NP_001380698.1:p.(Ile1285Val)	NC_000003.11:g.151090543A>G	VUS	1 lab	9ea6b6a1ef
X:130678863 OR13H1 T>A	X	130678863	130678863	T	A	OR13H1	c.816T>A	NM_001004486.1	NP_001004486.1:p.(Phe272Leu)	NC_000023.10:g.130678863T>A	VUS	1 lab	9ea6dea7af
16:89258765 CDH15 CCGGGGGCCGCAGCGCTGCTGG>C	16	89258765	89258792	CCGGGGGCCGCAGCGCTGCTGG	C	CDH15	c.1775_1795del	NM_004933.3	NP_004924.1:p.(Ala592_Gly598del)	NC_000016.9:g.89258772_89258792del	VUS	1 lab	9ea70c1ace
10:135183418 ECHS1 T>C	10	135183418	135183418	T	C	ECHS1	c.404A>G	NM_004092.4	NP_004083.3:p.(Asn135Ser)	NC_000010.10:g.135183418T>C	VUS	1 lab	9ea736ab03
19:7267455 INSR T>C	19	7267455	7267455	T	C	INSR	c.553A>G	NM_000208.4	NP_000199.2:p.(Ile185Val)	NC_000019.9:g.7267455T>C	(Likely) benign	1 lab	9ea97bd10e
19:58988733 ZNF446 C>T	19	58988733	58988733	C	T	ZNF446	c.148C>T	NM_017908.4	NP_060378.1:p.(Leu50=)	NC_000019.9:g.58988733C>T	(Likely) benign	1 lab	9eadfddbac
19:42799294 CIC A>AGGGC	19	42799294	42799296	A	AGGGC	CIC	c.7506_7507insGGCG	NM_001386298.1	NP_001373227.1:p.(Pro2503GlyfsTer21)	NC_000019.9:g.42799295_42799296insGGCG	VUS	1 lab	9eafcfd95c
12:121435444 HNF1A AT>A	12	121435444	121435445	AT	A	HNF1A	c.1478del	NM_000545.8	NP_000536.6:p.(Met493ArgfsTer38)	NC_000012.11:g.121435445del	(Likely) pathogenic	1 lab	9eafd9fad6
8:11606534 GATA4 C>T	8	11606534	11606534	C	T	GATA4	c.726C>T	NM_001308093.3	NP_001295022.1:p.(Cys242=)	NC_000008.10:g.11606534C>T	(Likely) benign	1 lab	9eb023e40b
11:73915405 PPME1 G>A	11	73915405	73915405	G	A	PPME1	c.203G>A	NM_016147.3	NP_057231.1:p.(Arg68Gln)	NC_000011.9:g.73915405G>A	VUS	1 lab	9eb1017360
12:76740500 BBS10 C>T	12	76740500	76740500	C	T	BBS10	c.1265G>A	NM_024685.4	NP_078961.3:p.(Arg422Gln)	NC_000012.11:g.76740500C>T	(Likely) benign	1 lab	9eb342e385
14:105417464 AHNAK2 C>T	14	105417464	105417464	C	T	AHNAK2	c.4324G>A	NM_138420.4	NP_612429.2:p.(Asp1442Asn)	NC_000014.8:g.105417464C>T	VUS	1 lab	9eb37e123f
11:31804960 ELP4 A>T	11	31804960	31804960	A	T	ELP4	c.1163A>T	NM_019040.5	NP_061913.3:p.(Asp388Val)	NC_000011.9:g.31804960A>T	(Likely) benign	1 lab	9eb583b897
15:72501160 PKM C>G	15	72501160	72501160	C	G	PKM	c.638G>C	NM_002654.6	NP_002645.3:p.(Gly213Ala)	NC_000015.9:g.72501160C>G	(Likely) benign	1 lab	9eb600d82c
14:23899039 MYH7 G>A	14	23899039	23899039	G	A	MYH7	c.1083C>T	NM_000257.4	NP_000248.2:p.(Asn361=)	NC_000014.8:g.23899039G>A	(Likely) benign	1 lab	9eb7c815a5
19:48205325 BICRA G>C	19	48205325	48205325	G	C	BICRA	c.4336G>C	NM_001394372.1	NP_001381301.1:p.(Gly1446Arg)	NC_000019.9:g.48205325G>C	(Likely) benign	1 lab	9eb7ede6d0
19:50322523 MED25 A>T	19	50322523	50322523	A	T	MED25	c.275A>T	NM_030973.4	NP_112235.2:p.(Tyr92Phe)	NC_000019.9:g.50322523A>T	VUS	1 lab	9eb82b85e3
12:96387947 HAL A>C	12	96387947	96387947	A	C	HAL	c.337-5T>G	NM_002108.4	NP_002099.1:p.?	NC_000012.11:g.96387947A>C	(Likely) benign	1 lab	9eb86c8e59
19:18979735 GDF1 C>A	19	18979735	18979735	C	A	GDF1	c.790G>T	NM_001492.6	NP_001483.3:p.(Gly264Trp)	NC_000019.9:g.18979735C>A	VUS	1 lab	9eb8d02167
2:47672749 MSH2 T>G	2	47672749	47672749	T	G	MSH2	c.1339T>G	NM_000251.3	NP_000242.1:p.(Phe447Val)	NC_000002.11:g.47672749T>G	VUS	1 lab	9eba25b561
1:224380137 DEGS1 C>G	1	224380137	224380137	C	G	DEGS1	c.929C>G	NM_003676.4	NP_003667.1:p.(Ser310Ter)	NC_000001.10:g.224380137C>G	VUS	1 lab	9eba481c3a
11:119535965 NECTIN1 G>A	11	119535965	119535965	G	A	NECTIN1	c.1046C>T	NM_002855.5	NP_002846.3:p.(Ala349Val)	NC_000011.9:g.119535965G>A	(Likely) benign	1 lab	9ebb24576b
6:85473812 TBX18 T>C	6	85473812	85473812	T	C	TBX18	c.88A>G	NM_001080508.3	NP_001073977.1:p.(Lys30Glu)	NC_000006.11:g.85473812T>C	VUS	1 lab	9ebb7d2559
2:16082686 MYCN G>A	2	16082686	16082686	G	A	MYCN	c.500G>A	NM_005378.6	NP_005369.2:p.(Gly167Glu)	NC_000002.11:g.16082686G>A	(Likely) benign	1 lab	9ebb9e83f7
X:67316839 OPHN1 G>A	X	67316839	67316839	G	A	OPHN1	c.1559C>T	NM_002547.3	NP_002538.1:p.(Thr520Ile)	NC_000023.10:g.67316839G>A	VUS	1 lab	9ebbf95456
17:1419740 INPP5K G>A	17	1419740	1419740	G	A	INPP5K	c.44+10C>T	NM_016532.4	NP_057616.2:p.?	NC_000017.10:g.1419740G>A	(Likely) benign	1 lab	9ebe008f7f
19:14042834 PODNL1 C>A	19	14042834	14042834	C	A	PODNL1	c.1517G>T	NM_001370095.3	NP_001357024.2:p.(Gly506Val)	NC_000019.9:g.14042834C>A	VUS	1 lab	9ebf7dabb1
4:88537482 DSPP G>A	4	88537482	88537482	G	A	DSPP	c.3668G>A	NM_014208.3	NP_055023.2:p.(Ser1223Asn)	NC_000004.11:g.88537482G>A	(Likely) benign	1 lab	9ec0d4c8af
19:3981332 EEF2 C>T	19	3981332	3981332	C	T	EEF2	c.1011+5G>A	NM_001961.4	NP_001952.1:p.?	NC_000019.9:g.3981332C>T	(Likely) benign	1 lab	9ec24beb58
1:40705883 RLF C>A	1	40705883	40705883	C	A	RLF	c.5509C>A	NM_012421.4	NP_036553.2:p.(His1837Asn)	NC_000001.10:g.40705883C>A	(Likely) benign	1 lab	9ec2b9a649
X:55026943 APEX2 G>A	X	55026943	55026943	G	A	APEX2	c.88G>A	NM_014481.4	NP_055296.2:p.(Val30Met)	NC_000023.10:g.55026943G>A	(Likely) benign	1 lab	9ec3bf3490
22:21982916 YDJC C>G	22	21982916	21982916	C	G	YDJC	c.763G>C	NM_001017964.2	NP_001017964.1:p.(Gly255Arg)	NC_000022.10:g.21982916C>G	VUS	1 lab	9ec4f83d72
5:96071937 CAST C>T	5	96071937	96071937	C	T	CAST	c.692C>T	NM_001750.7	NP_001741.4:p.(Ser231Leu)	NC_000005.9:g.96071937C>T	VUS	1 lab	9ec52e4311
10:70775830 KIFBP T>A	10	70775830	70775830	T	A	KIFBP	c.1524T>A	NM_015634.4	NP_056449.1:p.(Asn508Lys)	NC_000010.10:g.70775830T>A	VUS	1 lab	9ec5985963
X:13774702 OFD1 A>G	X	13774702	13774702	A	G	OFD1	c.1227A>G	NM_003611.3	NP_003602.1:p.(Glu409=)	NC_000023.10:g.13774702A>G	(Likely) benign	1 lab	9ec5c7175c
11:13514198 PTH ACT>A	11	13514198	13514201	ACT	A	PTH	c.100_101del	NM_000315.4	NP_000306.1:p.(Ser34Ter)	NC_000011.9:g.13514200_13514201del	(Likely) pathogenic	1 lab	9ec6d5d804
1:201181058 IGFN1 G>T	1	201181058	201181058	G	T	IGFN1	c.7037G>T	NM_001164586.2	NP_001158058.1:p.(Gly2346Val)	NC_000001.10:g.201181058G>T	(Likely) benign	1 lab	9ec91a6ef8
4:983130 IDUA G>T	4	983130	983130	G	T	IDUA	c.299+1393G>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.983130G>T	(Likely) benign	1 lab	9ec97b5636
15:34151851 RYR3 G>C	15	34151851	34151851	G	C	RYR3	c.14218G>C	NM_001036.6	NP_001027.3:p.(Asp4740His)	NC_000015.9:g.34151851G>C	(Likely) benign	1 lab	9ec9894a06
18:42643487 SETBP1 C>A	18	42643487	42643487	C	A	SETBP1	c.4615C>A	NM_015559.3	NP_056374.2:p.(Pro1539Thr)	NC_000018.9:g.42643487C>A	VUS	1 lab	9ed1ae9caf
20:36625219 TTI1 G>A	20	36625219	36625219	G	A	TTI1	c.2930C>T	NM_001303457.2	NP_001290386.1:p.(Thr977Met)	NC_000020.10:g.36625219G>A	VUS	1 lab	9ed365d6b1
22:41573372 EP300 A>C	22	41573372	41573372	A	C	EP300	c.5657A>C	NM_001429.4	NP_001420.2:p.(Tyr1886Ser)	NC_000022.10:g.41573372A>C	VUS	1 lab	9ed3861991
9:40705846 SPATA31A3 A>G	9	40705846	40705846	A	G	SPATA31A3	c.3503A>G	NM_001083124.1	NP_001076593.1:p.(Lys1168Arg)	NC_000009.11:g.40705846A>G	VUS	1 lab	9ed48d94dd
14:79434678 NRXN3 G>A	14	79434678	79434678	G	A	NRXN3	c.3131G>A	NM_001330195.2	NP_001317124.1:p.(Arg1044His)	NC_000014.8:g.79434678G>A	VUS	1 lab	9ed78ad4d0
16:1507703 CLCN7 C>T	16	1507703	1507703	C	T	CLCN7	c.730G>A	NM_001287.6	NP_001278.1:p.(Val244Met)	NC_000016.9:g.1507703C>T	VUS	1 lab	9ed8cdd1fe
15:40498632 BUB1B G>C	15	40498632	40498632	G	C	BUB1B	c.1982G>C	NM_001211.6	NP_001202.5:p.(Ser661Thr)	NC_000015.9:g.40498632G>C	(Likely) benign	1 lab	9ed9aed31f
X:7811333 VCX A>G	X	7811333	7811333	A	G	VCX	c.89A>G	NM_001393662.1	NP_001380591.1:p.(Asp30Gly)	NC_000023.10:g.7811333A>G	(Likely) benign	1 lab	9edc11952a
14:102499744 DYNC1H1 C>T	14	102499744	102499744	C	T	DYNC1H1	c.10336C>T	NM_001376.5	NP_001367.2:p.(Arg3446Cys)	NC_000014.8:g.102499744C>T	VUS	1 lab	9eddf1fe71
14:67391014 GPHN G>A	14	67391014	67391014	G	A	GPHN	c.828+5G>A	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67391014G>A	VUS	1 lab	9ede85abd4
2:95715335 MAL T>C	2	95715335	95715335	T	C	MAL	c.271T>C	NM_002371.4	NP_002362.1:p.(Tyr91His)	NC_000002.11:g.95715335T>C	VUS	1 lab	9edeb2e873
9:2123724 SMARCA2 G>T	9	2123724	2123724	G	T	SMARCA2	c.3768G>T	NM_003070.5	NP_003061.3:p.(Met1256Ile)	NC_000009.11:g.2123724G>T	VUS	1 lab	9edf0f7451
8:92083471 OTUD6B A>C	8	92083471	92083471	A	C	OTUD6B	c.188A>C	NM_016023.5	NP_057107.4:p.(His63Pro)	NC_000008.10:g.92083471A>C	VUS	1 lab	9edf574f56
7:57529366 ZNF716 G>A	7	57529366	57529366	G	A	ZNF716	c.1199G>A	NM_001159279.1	NP_001152751.1:p.(Arg400Lys)	NC_000007.13:g.57529366G>A	VUS	1 lab	9edf8bc019
15:99454653 IGF1R C>T	15	99454653	99454653	C	T	IGF1R	c.1572C>T	NM_000875.5	NP_000866.1:p.(Thr524=)	NC_000015.9:g.99454653C>T	(Likely) benign	1 lab	9ee20603f6
22:50313452 CRELD2 C>T	22	50313452	50313452	C	T	CRELD2	c.287C>T	NM_024324.5	NP_077300.3:p.(Ala96Val)	NC_000022.10:g.50313452C>T	(Likely) benign	1 lab	9ee29eb7ca
7:82582546 PCLO A>G	7	82582546	82582546	A	G	PCLO	c.7723T>C	NM_033026.6	NP_149015.2:p.(Ser2575Pro)	NC_000007.13:g.82582546A>G	(Likely) benign	1 lab	9ee6a134de
20:57484758 GNAS C>T	20	57484758	57484758	C	T	GNAS	c.738C>T	NM_000516.7	NP_000507.1:p.(Phe246=)	NC_000020.10:g.57484758C>T	(Likely) benign	1 lab	9ee951a659
13:77695503 MYCBP2 C>CTTTTAAAGA	13	77695503	77695504	C	CTTTTAAAGA	MYCBP2	c.8140+4_8140+5insTCTTTAAAA	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77695503_77695504insTTTTAAAGA	VUS	1 lab	9ee9b7dd89
22:50659591 TUBGCP6 T>A	22	50659591	50659591	T	A	TUBGCP6	c.3197A>T	NM_020461.4	NP_065194.3:p.(Asn1066Ile)	NC_000022.10:g.50659591T>A	(Likely) benign	1 lab	9eea527bf0
9:14851362 FREM1 A>C	9	14851362	14851362	A	C	FREM1	c.1072T>G	NM_001379081.2	NP_001366010.1:p.(Phe358Val)	NC_000009.11:g.14851362A>C	VUS	1 lab	9eefea5c02
2:60689322 BCL11A C>T	2	60689322	60689322	C	T	BCL11A	c.725G>A	NM_022893.4	NP_075044.2:p.(Arg242Lys)	NC_000002.11:g.60689322C>T	VUS	1 lab	9ef1a9ed48
11:66283008 BBS1 C>T	11	66283008	66283008	C	T	BBS1	c.433-3C>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283008C>T	(Likely) benign	1 lab	9ef30d7ee4
11:67888435 CHKA GGGCAGC>G	11	67888435	67888462	GGGCAGC	G	CHKA	c.204_209del	NM_001277.3	NP_001268.2:p.(Leu69_Pro70del)	NC_000011.9:g.67888457_67888462del	VUS	1 lab	9ef3dbce6b
5:126791229 MEGF10 G>A	5	126791229	126791229	G	A	MEGF10	c.3162G>A	NM_001256545.2	NP_001243474.1:p.(Pro1054=)	NC_000005.9:g.126791229G>A	(Likely) benign	1 lab	9ef3e4c1af
21:47836676 PCNT G>A	21	47836676	47836676	G	A	PCNT	c.6844G>A	NM_006031.6	NP_006022.3:p.(Val2282Met)	NC_000021.8:g.47836676G>A	(Likely) benign	1 lab	9ef4a16f2b
X:19504602 MAP3K15 T>TG	X	19504602	19504603	T	TG	MAP3K15	c.522dup	NM_001001671.4	NP_001001671.3:p.(Thr175HisfsTer19)	NC_000023.10:g.19504603dup	VUS	1 lab	9ef6ec3ef3
5:71403485 MAP1B G>A	5	71403485	71403485	G	A	MAP1B	c.127G>A	NM_005909.5	NP_005900.2:p.(Val43Ile)	NC_000005.9:g.71403485G>A	(Likely) benign	1 lab	9efa376456
6:100895238 SIM1 C>T	6	100895238	100895238	C	T	SIM1	c.904G>A	NM_005068.3	NP_005059.2:p.(Gly302Ser)	NC_000006.11:g.100895238C>T	VUS	1 lab	9efae26400
19:39959798 SUPT5H T>C	19	39959798	39959798	T	C	SUPT5H	c.1223T>C	NM_001111020.3	NP_001104490.1:p.(Val408Ala)	NC_000019.9:g.39959798T>C	VUS	1 lab	9efcf2a26e
5:140711225 PCDHGA1 C>T	5	140711225	140711225	C	T	PCDHGA1	c.974C>T	NM_018912.3	NP_061735.1:p.(Ala325Val)	NC_000005.9:g.140711225C>T	VUS	1 lab	9efd56050e
15:25213097 SNURF G>C	15	25213097	25213097	G	C	SNURF	c.129G>C	NM_001394334.1	NP_001381263.1:p.(Arg43Ser)	NC_000015.9:g.25213097G>C	VUS	1 lab	9efe7fa23a
X:77301825 ATP7A C>T	X	77301825	77301825	C	T	ATP7A	c.4261C>T	NM_000052.7	NP_000043.4:p.(Pro1421Ser)	NC_000023.10:g.77301825C>T	(Likely) benign	1 lab	9eff2ab58a
1:151378915 POGZ G>A	1	151378915	151378915	G	A	POGZ	c.2596C>T	NM_015100.4	NP_055915.2:p.(His866Tyr)	NC_000001.10:g.151378915G>A	(Likely) benign	1 lab	9effc11ffc
3:15471510 EAF1 T>G	3	15471510	15471510	T	G	EAF1	c.194T>G	NM_033083.7	NP_149074.3:p.(Ile65Ser)	NC_000003.11:g.15471510T>G	VUS	1 lab	9f01a41abb
10:26305773 MYO3A C>T	10	26305773	26305773	C	T	MYO3A	c.533C>T	NM_017433.5	NP_059129.3:p.(Thr178Ile)	NC_000010.10:g.26305773C>T	(Likely) benign	1 lab	9f02bb9c2e
5:140907266 DIAPH1 T>TAAAAAAAAA	5	140907266	140907289	T	TAAAAAAAAA	DIAPH1	c.3149-11_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907281_140907289dup	(Likely) benign	1 lab	9f02ff7986
14:23900639 MYH7 C>T	14	23900639	23900639	C	T	MYH7	c.784G>A	NM_000257.4	NP_000248.2:p.(Asp262Asn)	NC_000014.8:g.23900639C>T	VUS	1 lab	27375afa89
11:118898975 SLC37A4 C>T	11	118898975	118898975	C	T	SLC37A4	c.310G>A	NM_001164277.2	NP_001157749.1:p.(Ala104Thr)	NC_000011.9:g.118898975C>T	VUS	1 lab	9f051ca460
6:43019979 CUL7 C>T	6	43019979	43019979	C	T	CUL7	c.548G>A	NM_014780.5	NP_055595.2:p.(Arg183Gln)	NC_000006.11:g.43019979C>T	(Likely) benign	1 lab	9f054ff646
22:26222371 MYO18B C>T	22	26222371	26222371	C	T	MYO18B	c.2696-5C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26222371C>T	(Likely) benign	1 lab	9f059e0f24
17:80051287 FASN T>C	17	80051287	80051287	T	C	FASN	c.463A>G	NM_004104.5	NP_004095.4:p.(Ile155Val)	NC_000017.10:g.80051287T>C	(Likely) benign	1 lab	9f05e2f194
15:75684814 SIN3A G>C	15	75684814	75684814	G	C	SIN3A	c.2620C>G	NM_001145358.2	NP_001138830.1:p.(Gln874Glu)	NC_000015.9:g.75684814G>C	(Likely) benign	1 lab	9f063945d6
18:19085810 GREB1L G>C	18	19085810	19085810	G	C	GREB1L	c.4268G>C	NM_001142966.3	NP_001136438.1:p.(Arg1423Pro)	NC_000018.9:g.19085810G>C	VUS	1 lab	9f0675e750
X:53457915 RIBC1 G>C	X	53457915	53457915	G	C	RIBC1	c.1119G>C	NM_001031745.5	NP_001026915.1:p.(Gln373His)	NC_000023.10:g.53457915G>C	(Likely) benign	1 lab	9f0707eb1c
2:234681147 UGT1A1 G>A	2	234681147	234681147	G	A	UGT1A1	c.1544G>A	NM_000463.3	NP_000454.1:p.(Arg515Gln)	NC_000002.11:g.234681147G>A	VUS	1 lab	9f08396e3b
3:10085167 FANCD2 G>A	3	10085167	10085167	G	A	FANCD2	c.990-1G>A	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10085167G>A	(Likely) pathogenic	1 lab	9f0875984a
11:6652852 DCHS1 T>C	11	6652852	6652852	T	C	DCHS1	c.3670A>G	NM_003737.4	NP_003728.1:p.(Ile1224Val)	NC_000011.9:g.6652852T>C	VUS	1 lab	9f09e8c57d
3:47164025 SETD2 T>G	3	47164025	47164025	T	G	SETD2	c.2101A>C	NM_014159.7	NP_054878.5:p.(Ser701Arg)	NC_000003.11:g.47164025T>G	(Likely) benign	1 lab	9f0b27d625
3:66419908 SLC25A26 T>A	3	66419908	66419908	T	A	SLC25A26	c.575T>A	NM_001379210.1	NP_001366139.1:p.(Phe192Tyr)	NC_000003.11:g.66419908T>A	VUS	1 lab	9f0d166d00
14:74995744 LTBP2 C>T	14	74995744	74995744	C	T	LTBP2	c.2069G>A	NM_000428.3	NP_000419.1:p.(Arg690Gln)	NC_000014.8:g.74995744C>T	VUS	1 lab	9f0e29534b
17:48655934 CACNA1G G>A	17	48655934	48655934	G	A	CACNA1G	c.2301+9G>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48655934G>A	(Likely) benign	1 lab	9f131f0f6e
19:9010994 MUC16 C>T	19	9010994	9010994	C	T	MUC16	c.38924G>A	NM_024690.2	NP_078966.2:p.(Arg12975Gln)	NC_000019.9:g.9010994C>T	VUS	1 lab	2737a425d9
17:29556230 NF1 C>T	17	29556230	29556230	C	T	NF1	c.2597C>T	NM_001042492.3	NP_001035957.1:p.(Pro866Leu)	NC_000017.10:g.29556230C>T	VUS	1 lab	9f13ff845b
19:39995903 DLL3 G>A	19	39995903	39995903	G	A	DLL3	c.905G>A	NM_203486.3	NP_982353.1:p.(Arg302His)	NC_000019.9:g.39995903G>A	(Likely) benign	1 lab	9f1498b36b
5:149509364 PDGFRB T>C	5	149509364	149509364	T	C	PDGFRB	c.1535A>G	NM_002609.4	NP_002600.1:p.(Asn512Ser)	NC_000005.9:g.149509364T>C	(Likely) benign	1 lab	9f18d8cec1
21:46906858 COL18A1 CCCCCCTGGG>C	21	46906858	46906881	CCCCCCTGGG	C	COL18A1	c.1800_1808del	NM_001379500.1	NP_001366429.1:p.(Pro603_Pro605del)	NC_000021.8:g.46906873_46906881del	(Likely) benign	1 lab	9f194beaf6
17:48245950 SGCA A>G	17	48245950	48245950	A	G	SGCA	c.584+17A>G	NM_000023.4	NP_000014.1:p.?	NC_000017.10:g.48245950A>G	(Likely) benign	1 lab	9f19d00ff9
3:100536280 ABI3BP C>T	3	100536280	100536280	C	T	ABI3BP	c.3148G>A	NM_001375547.2	NP_001362476.1:p.(Ala1050Thr)	NC_000003.11:g.100536280C>T	(Likely) benign	1 lab	9f1ab4d3d6
1:158623085 SPTA1 C>A	1	158623085	158623085	C	A	SPTA1	c.3167G>T	NM_003126.4	NP_003117.2:p.(Arg1056Leu)	NC_000001.10:g.158623085C>A	(Likely) benign	1 lab	9f1ac964aa
17:73487846 TMEM94 C>T	17	73487846	73487846	C	T	TMEM94	c.1461C>T	NM_014738.6	NP_055553.3:p.(Gly487=)	NC_000017.10:g.73487846C>T	(Likely) benign	1 lab	9f1b1e5877
18:43456296 EPG5 C>T	18	43456296	43456296	C	T	EPG5	c.5954G>A	NM_020964.3	NP_066015.2:p.(Arg1985Gln)	NC_000018.9:g.43456296C>T	(Likely) benign	1 lab	9f1c7b2300
14:33015147 AKAP6 G>T	14	33015147	33015147	G	T	AKAP6	c.1288G>T	NM_004274.5	NP_004265.3:p.(Asp430Tyr)	NC_000014.8:g.33015147G>T	(Likely) benign	1 lab	9f1d3cae8b
10:123843279 TACC2 C>T	10	123843279	123843279	C	T	TACC2	c.1264C>T	NM_206862.4	NP_996744.4:p.(Leu422Phe)	NC_000010.10:g.123843279C>T	(Likely) benign	1 lab	9f1d6adeb8
2:241659241 KIF1A G>T	2	241659241	241659241	G	T	KIF1A	c.4971C>A	NM_001244008.2	NP_001230937.1:p.(Asp1657Glu)	NC_000002.11:g.241659241G>T	(Likely) benign	1 lab	9f1de4ae59
17:39973299 FKBP10 T>TC	17	39973299	39973307	T	TC	FKBP10	c.246-3dup	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39973307dup	(Likely) benign	1 lab	9f1f1c6729
17:5308552 NUP88 A>G	17	5308552	5308552	A	G	NUP88	c.869T>C	NM_002532.6	NP_002523.2:p.(Ile290Thr)	NC_000017.10:g.5308552A>G	VUS	1 lab	9f1f20dbca
11:62563569 NXF1 T>C	11	62563569	62563569	T	C	NXF1	c.1430A>G	NM_006362.5	NP_006353.2:p.(Asn477Ser)	NC_000011.9:g.62563569T>C	VUS	1 lab	9f1f527a3d
14:50623793 SOS2 T>C	14	50623793	50623793	T	C	SOS2	c.1981A>G	NM_006939.4	NP_008870.2:p.(Ile661Val)	NC_000014.8:g.50623793T>C	VUS	1 lab	9f205082cd
X:53432432 SMC1A C>T	X	53432432	53432432	C	T	SMC1A	c.1904G>A	NM_006306.4	NP_006297.2:p.(Arg635His)	NC_000023.10:g.53432432C>T	VUS	1 lab	9f2057df8c
10:72648288 PCBD1 C>G	10	72648288	72648288	C	G	PCBD1	c.3G>C	NM_000281.4	NP_000272.1:p.(Met1?)	NC_000010.10:g.72648288C>G	VUS	1 lab	9f6dd3de4f
20:40042020 CHD6 G>A	20	40042020	40042020	G	A	CHD6	c.7075C>T	NM_032221.5	NP_115597.3:p.(Leu2359Phe)	NC_000020.10:g.40042020G>A	VUS	1 lab	9f209aa2b0
2:55870495 PNPT1 G>A	2	55870495	55870495	G	A	PNPT1	c.1972C>T	NM_033109.5	NP_149100.2:p.(His658Tyr)	NC_000002.11:g.55870495G>A	VUS	1 lab	9f21d57d21
17:40844649 CNTNAP1 G>A	17	40844649	40844649	G	A	CNTNAP1	c.2663G>A	NM_003632.3	NP_003623.1:p.(Arg888Gln)	NC_000017.10:g.40844649G>A	VUS	1 lab	9f244ba233
4:122251685 QRFPR C>T	4	122251685	122251685	C	T	QRFPR	c.798-7G>A	NM_198179.3	NP_937822.2:p.?	NC_000004.11:g.122251685C>T	(Likely) benign	1 lab	9f25462aec
17:76989871 CANT1 C>T	17	76989871	76989871	C	T	CANT1	c.967G>A	NM_001159773.2	NP_001153245.1:p.(Ala323Thr)	NC_000017.10:g.76989871C>T	(Likely) benign	1 lab	9f25c6b7d0
13:25459772 CPAP CGAG>C	13	25459772	25459779	CGAG	C	CPAP	c.3335_3337del	NM_018451.5	NP_060921.3:p.(Pro1112del)	NC_000013.10:g.25459777_25459779del	(Likely) benign	1 lab	9f25cc54cd
14:77919667 VIPAS39 G>C	14	77919667	77919667	G	C	VIPAS39	c.171C>G	NM_001193315.2	NP_001180244.1:p.(Val57=)	NC_000014.8:g.77919667G>C	VUS	1 lab	9f2601b179
20:43056999 HNF4A CCCA>C	20	43056999	43057007	CCCA	C	HNF4A	c.1160_1162del	NM_000457.5	NP_000448.3:p.(His387del)	NC_000020.10:g.43057005_43057007del	VUS	1 lab	9f262e673d
2:186669008 FSIP2 T>C	2	186669008	186669008	T	C	FSIP2	c.14975T>C	NM_173651.4	NP_775922.3:p.(Ile4992Thr)	NC_000002.11:g.186669008T>C	VUS	1 lab	9f27073d9e
22:40058432 CACNA1I A>G	22	40058432	40058432	A	G	CACNA1I	c.3364A>G	NM_021096.4	NP_066919.2:p.(Ile1122Val)	NC_000022.10:g.40058432A>G	(Likely) benign	1 lab	9f27e884bc
3:105456033 CBLB G>A	3	105456033	105456033	G	A	CBLB	c.1053C>T	NM_170662.5	NP_733762.2:p.(Asp351=)	NC_000003.11:g.105456033G>A	(Likely) benign	1 lab	9f288aa533
19:57640238 USP29 T>TA	19	57640238	57640245	T	TA	USP29	c.202dup	NM_020903.3	NP_065954.1:p.(Arg68LysfsTer18)	NC_000019.9:g.57640245dup	VUS	1 lab	9f2bab46e3
17:36059103 HNF1B G>A	17	36059103	36059103	G	A	HNF1B	c.1632C>T	NM_000458.4	NP_000449.1:p.(Thr544=)	NC_000017.10:g.36059103G>A	(Likely) benign	1 lab	9f2de4c435
16:28509264 APOBR A>T	16	28509264	28509264	A	T	APOBR	c.2902A>T	NM_018690.4	NP_061160.3:p.(Thr968Ser)	NC_000016.9:g.28509264A>T	VUS	1 lab	9f2f2401f5
9:100843246 NANS C>T	9	100843246	100843246	C	T	NANS	c.752C>T	NM_018946.4	NP_061819.2:p.(Ser251Leu)	NC_000009.11:g.100843246C>T	(Likely) benign	1 lab	9f30c200a0
9:35802240 NPR2 G>A	9	35802240	35802240	G	A	NPR2	c.1670G>A	NM_003995.4	NP_003986.2:p.(Arg557His)	NC_000009.11:g.35802240G>A	VUS	1 lab	9f30f94b12
1:161494908 HSPA6 G>A	1	161494908	161494908	G	A	HSPA6	c.460G>A	NM_002155.5	NP_002146.2:p.(Asp154Asn)	NC_000001.10:g.161494908G>A	(Likely) benign	1 lab	9f31b17610
10:131671794 EBF3 G>A	10	131671794	131671794	G	A	EBF3	c.703C>T	NM_001375380.1	NP_001362309.1:p.(His235Tyr)	NC_000010.10:g.131671794G>A	(Likely) pathogenic	1 lab	9f322f80d0
3:155632363 GMPS C>T	3	155632363	155632363	C	T	GMPS	c.1038+4C>T	NM_003875.3	NP_003866.1:p.?	NC_000003.11:g.155632363C>T	(Likely) benign	1 lab	9f3277a479
1:181764028 CACNA1E G>A	1	181764028	181764028	G	A	CACNA1E	c.6056G>A	NM_001205293.3	NP_001192222.1:p.(Arg2019His)	NC_000001.10:g.181764028G>A	VUS	1 lab	9f332c1c85
9:113457810 MUSK G>C	9	113457810	113457810	G	C	MUSK	c.486G>C	NM_005592.4	NP_005583.1:p.(Arg162Ser)	NC_000009.11:g.113457810G>C	VUS	1 lab	9f3367337a
2:86302316 POLR1A G>A	2	86302316	86302316	G	A	POLR1A	c.1448C>T	NM_015425.6	NP_056240.2:p.(Ala483Val)	NC_000002.11:g.86302316G>A	VUS	1 lab	9f36616254
1:43804951 MPL C>T	1	43804951	43804951	C	T	MPL	c.401C>T	NM_005373.3	NP_005364.1:p.(Ala134Val)	NC_000001.10:g.43804951C>T	VUS	1 lab	273aa517c8
15:27017840 GABRB3 G>A	15	27017840	27017840	G	A	GABRB3	c.160C>T	NM_000814.6	NP_000805.1:p.(Pro54Ser)	NC_000015.9:g.27017840G>A	VUS	1 lab	9f391b4684
17:65862813 BPTF G>A	17	65862813	65862813	G	A	BPTF	c.1660+10G>A	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65862813G>A	(Likely) benign	1 lab	9f3957b333
12:51084902 DIP2B A>G	12	51084902	51084902	A	G	DIP2B	c.1622A>G	NM_173602.3	NP_775873.2:p.(Gln541Arg)	NC_000012.11:g.51084902A>G	(Likely) benign	1 lab	9f3a18ab6a
1:37270813 GRIK3 G>A	1	37270813	37270813	G	A	GRIK3	c.2340C>T	NM_000831.4	NP_000822.2:p.(Thr780=)	NC_000001.10:g.37270813G>A	(Likely) benign	1 lab	9f3ac035d3
17:1554440 PRPF8 A>T	17	1554440	1554440	A	T	PRPF8	c.6815T>A	NM_006445.4	NP_006436.3:p.(Met2272Lys)	NC_000017.10:g.1554440A>T	VUS	1 lab	9f3e9be27a
7:100410710 EPHB4 C>T	7	100410710	100410710	C	T	EPHB4	c.1870+7G>A	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100410710C>T	VUS	1 lab	9f40dbfaea
4:9213237 USP17L10 T>A	4	9213237	9213237	T	A	USP17L10	c.855T>A	NM_001256852.1	NP_001243781.1:p.(Asp285Glu)	NC_000004.11:g.9213237T>A	(Likely) benign	1 lab	9f410641c9
17:79918734 NOTUM C>G	17	79918734	79918734	C	G	NOTUM	c.52G>C	NM_178493.6	NP_848588.3:p.(Gly18Arg)	NC_000017.10:g.79918734C>G	VUS	1 lab	9f428b0bdb
20:61957078 COL20A1 C>T	20	61957078	61957078	C	T	COL20A1	c.3402+5C>T	NM_020882.4	NP_065933.2:p.?	NC_000020.10:g.61957078C>T	(Likely) benign	1 lab	9f42f751d7
1:103544263 COL11A1 C>T	1	103544263	103544263	C	T	COL11A1	c.439G>A	NM_001854.4	NP_001845.3:p.(Ala147Thr)	NC_000001.10:g.103544263C>T	(Likely) benign	1 lab	9f45fc756a
20:43056956 HNF4A C>T	20	43056956	43056956	C	T	HNF4A	c.1130-19C>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43056956C>T	(Likely) benign	1 lab	9f46bd3fe2
X:39913563 BCOR G>A	X	39913563	39913563	G	A	BCOR	c.4765C>T	NM_001123385.2	NP_001116857.1:p.(Arg1589Cys)	NC_000023.10:g.39913563G>A	(Likely) benign	1 lab	9f4785f1a4
2:54876128 SPTBN1 G>A	2	54876128	54876128	G	A	SPTBN1	c.5003G>A	NM_003128.3	NP_003119.2:p.(Arg1668His)	NC_000002.11:g.54876128G>A	VUS	1 lab	9f4889c0c2
4:155507556 FGA C>T	4	155507556	155507556	C	T	FGA	c.1025G>A	NM_021871.4	NP_068657.1:p.(Gly342Glu)	NC_000004.11:g.155507556C>T	VUS	1 lab	9f4a2f764e
1:209791960 LAMB3 C>T	1	209791960	209791960	C	T	LAMB3	c.2746G>A	NM_000228.3	NP_000219.2:p.(Val916Met)	NC_000001.10:g.209791960C>T	(Likely) benign	1 lab	9f4e765760
10:99258026 MMS19 G>A	10	99258026	99258026	G	A	MMS19	c.112+4C>T	NM_022362.5	NP_071757.4:p.?	NC_000010.10:g.99258026G>A	(Likely) benign	1 lab	9f5000a1f2
11:57507702 TMX2 C>G	11	57507702	57507702	C	G	TMX2	c.876C>G	NM_015959.4	NP_057043.1:p.(Asn292Lys)	NC_000011.9:g.57507702C>G	VUS	1 lab	9f50187db2
6:157502298 ARID1B G>A	6	157502298	157502298	G	A	ARID1B	c.3700G>A	NM_001374828.1	NP_001361757.1:p.(Gly1234Arg)	NC_000006.11:g.157502298G>A	VUS	1 lab	9f506fa7ce
18:19751600 GATA6 G>A	18	19751600	19751600	G	A	GATA6	c.495G>A	NM_005257.6	NP_005248.2:p.(Ala165=)	NC_000018.9:g.19751600G>A	(Likely) benign	1 lab	9f509138d7
6:51712668 PKHD1 C>G	6	51712668	51712668	C	G	PKHD1	c.8012G>C	NM_138694.4	NP_619639.3:p.(Arg2671Pro)	NC_000006.11:g.51712668C>G	(Likely) benign	1 lab	9f511facf0
5:13901603 DNAH5 A>G	5	13901603	13901603	A	G	DNAH5	c.1810T>C	NM_001369.3	NP_001360.1:p.(Ser604Pro)	NC_000005.9:g.13901603A>G	VUS	1 lab	9f51312b57
3:48612948 COL7A1 G>A	3	48612948	48612948	G	A	COL7A1	c.6004C>T	NM_000094.4	NP_000085.1:p.(Arg2002Cys)	NC_000003.11:g.48612948G>A	VUS	1 lab	9f519ab66e
22:39067095 CBY1 G>A	22	39067095	39067095	G	A	CBY1	c.205G>A	NM_015373.4	NP_056188.1:p.(Val69Met)	NC_000022.10:g.39067095G>A	VUS	1 lab	9f52445be6
8:106815396 ZFPM2 A>T	8	106815396	106815396	A	T	ZFPM2	c.3086A>T	NM_012082.4	NP_036214.2:p.(Lys1029Ile)	NC_000008.10:g.106815396A>T	(Likely) benign	1 lab	9f53d09451
18:46956618 DYM C>G	18	46956618	46956618	C	G	DYM	c.140+7G>C	NM_001353214.3	NP_001340143.1:p.?	NC_000018.9:g.46956618C>G	(Likely) benign	1 lab	9f543edb0e
19:15295701 NOTCH3 G>GA	19	15295701	15295703	G	GA	NOTCH3	c.2410+15dup	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15295703dup	(Likely) benign	1 lab	9f58abd6a6
X:148564543 IDS A>G	X	148564543	148564543	A	G	IDS	c.1387T>C	NM_000202.8	NP_000193.1:p.(Tyr463His)	NC_000023.10:g.148564543A>G	VUS	1 lab	9f5917216c
1:16258623 SPEN AGGA>G	1	16258623	16258626	AGGA	G	SPEN	c.5888_5891delinsG	NM_015001.3	NP_055816.2:p.(Glu1963_Glu1964delinsGly)	NC_000001.10:g.16258623_16258626delinsG	VUS	1 lab	9f591c3a47
4:104104440 CENPE G>A	4	104104440	104104440	G	A	CENPE	c.751C>T	NM_001813.3	NP_001804.2:p.(Arg251Trp)	NC_000004.11:g.104104440G>A	VUS	1 lab	9f59535819
5:74016474 HEXB G>A	5	74016474	74016474	G	A	HEXB	c.840G>A	NM_001292004.2	NP_001278933.1:p.(Arg280=)	NC_000005.9:g.74016474G>A	(Likely) benign	1 lab	273d6b971b
11:68205964 LRP5 G>A	11	68205964	68205964	G	A	LRP5	c.4162G>A	NM_002335.4	NP_002326.2:p.(Gly1388Arg)	NC_000011.9:g.68205964G>A	VUS	1 lab	9f5b95dc64
9:139418259 NOTCH1 C>T	9	139418259	139418259	C	T	NOTCH1	c.313G>A	NM_017617.5	NP_060087.3:p.(Ala105Thr)	NC_000009.11:g.139418259C>T	VUS	1 lab	9f5d9d0c1e
16:1818809 MAPK8IP3 C>T	16	1818809	1818809	C	T	MAPK8IP3	c.3998C>T	NM_001318852.2	NP_001305781.1:p.(Ser1333Phe)	NC_000016.9:g.1818809C>T	VUS	1 lab	9f5fe007b0
5:90002035 ADGRV1 C>T	5	90002035	90002035	C	T	ADGRV1	c.8567-13C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002035C>T	(Likely) benign	1 lab	28b9637637
5:156726781 CYFIP2 A>C	5	156726781	156726781	A	C	CYFIP2	c.388-942A>C	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156726781A>C	(Likely) benign	1 lab	9f603e2e30
5:180047241 FLT4 T>C	5	180047241	180047241	T	C	FLT4	c.2474A>G	NM_182925.5	NP_891555.2:p.(Glu825Gly)	NC_000005.9:g.180047241T>C	VUS	1 lab	9f60406ac0
16:9857216 GRIN2A C>T	16	9857216	9857216	C	T	GRIN2A	c.4185G>A	NM_001134407.3	NP_001127879.1:p.(Ala1395=)	NC_000016.9:g.9857216C>T	(Likely) benign	1 lab	9f60bd2299
7:86817539 DMTF1 G>T	7	86817539	86817539	G	T	DMTF1	c.1333G>T	NM_001142327.2	NP_001135799.1:p.(Ala445Ser)	NC_000007.13:g.86817539G>T	VUS	1 lab	9f6168252f
20:40162164 CHD6 A>G	20	40162164	40162164	A	G	CHD6	c.79T>C	NM_032221.5	NP_115597.3:p.(Ser27Pro)	NC_000020.10:g.40162164A>G	VUS	1 lab	9f623bee5f
12:6442527 TNFRSF1A G>A	12	6442527	6442527	G	A	TNFRSF1A	c.472+6C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442527G>A	(Likely) benign	1 lab	28badefe2c
5:37000622 NIPBL C>A	5	37000622	37000622	C	A	NIPBL	c.3452C>A	NM_133433.4	NP_597677.2:p.(Pro1151Gln)	NC_000005.9:g.37000622C>A	VUS	1 lab	9f63445a4c
2:131099698 VMA22 T>C	2	131099698	131099698	T	C	VMA22	c.1A>G	NM_032357.4	NP_115733.2:p.(Met1?)	NC_000002.11:g.131099698T>C	VUS	1 lab	9f63b39dd4
2:168099737 XIRP2 G>A	2	168099737	168099737	G	A	XIRP2	c.1835G>A	NM_152381.6	NP_689594.4:p.(Gly612Asp)	NC_000002.11:g.168099737G>A	(Likely) benign	1 lab	9f646f8711
17:48276596 COL1A1 G>GCCAGGGGGTCCGGGAGGT	17	48276596	48276616	G	GCCAGGGGGTCCGGGAGGT	COL1A1	c.444_461dup	NM_000088.4	NP_000079.2:p.(Pro149_Gly154dup)	NC_000017.10:g.48276599_48276616dup	VUS	1 lab	9f679b8597
4:104041306 CENPE T>C	4	104041306	104041306	T	C	CENPE	c.7328A>G	NM_001813.3	NP_001804.2:p.(Gln2443Arg)	NC_000004.11:g.104041306T>C	VUS	1 lab	9f67f9a647
X:19039252 ADGRG2 C>T	X	19039252	19039252	C	T	ADGRG2	c.613G>A	NM_001079858.3	NP_001073327.1:p.(Ala205Thr)	NC_000023.10:g.19039252C>T	(Likely) benign	1 lab	9f695fe986
3:49166448 LAMB2 C>T	3	49166448	49166448	C	T	LAMB2	c.1731+5G>A	NM_002292.4	NP_002283.3:p.?	NC_000003.11:g.49166448C>T	VUS	1 lab	9f6a39ad86
11:17448630 ABCC8 T>C	11	17448630	17448630	T	C	ABCC8	c.2188A>G	NM_000352.6	NP_000343.2:p.(Met730Val)	NC_000011.9:g.17448630T>C	VUS	1 lab	9f6a4ad5c4
5:38885500 OSMR G>A	5	38885500	38885500	G	A	OSMR	c.753G>A	NM_003999.3	NP_003990.1:p.(Lys251=)	NC_000005.9:g.38885500G>A	(Likely) benign	1 lab	28bba2f4df
5:893215 TRIP13 A>G	5	893215	893215	A	G	TRIP13	c.92+10A>G	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.893215A>G	(Likely) benign	1 lab	9f6ab854f5
1:27092962 ARID1A C>G	1	27092962	27092962	C	G	ARID1A	c.2893C>G	NM_006015.6	NP_006006.3:p.(Pro965Ala)	NC_000001.10:g.27092962C>G	(Likely) benign	1 lab	9f6d11e4fb
2:99220642 COA5 G>C	2	99220642	99220642	G	C	COA5	c.112C>G	NM_001008215.3	NP_001008216.1:p.(Pro38Ala)	NC_000002.11:g.99220642G>C	VUS	1 lab	9f6d4e6ff7
4:104577382 TACR3 T>C	4	104577382	104577382	T	C	TACR3	c.857A>G	NM_001059.3	NP_001050.1:p.(Lys286Arg)	NC_000004.11:g.104577382T>C	(Likely) benign	1 lab	9f72eb7bd8
6:24460507 GPLD1 C>T	6	24460507	24460507	C	T	GPLD1	c.1008G>A	NM_001503.4	NP_001494.2:p.(Pro336=)	NC_000006.11:g.24460507C>T	VUS	1 lab	9f72faf7be
19:3198819 NCLN G>A	19	3198819	3198819	G	A	NCLN	c.620G>A	NM_020170.4	NP_064555.2:p.(Arg207Gln)	NC_000019.9:g.3198819G>A	VUS	1 lab	9f7335e952
1:151734977 MRPL9 C>G	1	151734977	151734977	C	G	MRPL9	c.311-1G>C	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151734977C>G	VUS	1 lab	9f74f30051
5:36985363 NIPBL A>G	5	36985363	36985363	A	G	NIPBL	c.2081A>G	NM_133433.4	NP_597677.2:p.(Glu694Gly)	NC_000005.9:g.36985363A>G	VUS	1 lab	9f751a366a
6:101103625 ASCC3 G>A	6	101103625	101103625	G	A	ASCC3	c.2773C>T	NM_006828.4	NP_006819.2:p.(Arg925Trp)	NC_000006.11:g.101103625G>A	VUS	1 lab	9f751ee742
19:6534728 TNFSF9 G>C	19	6534728	6534728	G	C	TNFSF9	c.416G>C	NM_003811.4	NP_003802.1:p.(Gly139Ala)	NC_000019.9:g.6534728G>C	VUS	1 lab	9f75b6bdd0
16:3778484 CREBBP C>G	16	3778484	3778484	C	G	CREBBP	c.6564G>C	NM_004380.3	NP_004371.2:p.(Gln2188His)	NC_000016.9:g.3778484C>G	VUS	1 lab	9f76d4f37a
17:40838104 CNTNAP1 A>G	17	40838104	40838104	A	G	CNTNAP1	c.845A>G	NM_003632.3	NP_003623.1:p.(Tyr282Cys)	NC_000017.10:g.40838104A>G	VUS	1 lab	9f7dbf6b89
12:57861781 GLI1 C>T	12	57861781	57861781	C	T	GLI1	c.1082C>T	NM_005269.3	NP_005260.1:p.(Pro361Leu)	NC_000012.11:g.57861781C>T	VUS	1 lab	9f7f605929
19:45855484 ERCC2 C>G	19	45855484	45855484	C	G	ERCC2	c.2173G>C	NM_000400.4	NP_000391.1:p.(Ala725Pro)	NC_000019.9:g.45855484C>G	(Likely) pathogenic	1 lab	9f80cb243a
7:6026457 PMS2 T>A	7	6026457	6026457	T	A	PMS2	c.1939A>T	NM_000535.7	NP_000526.2:p.(Lys647Ter)	NC_000007.13:g.6026457T>A	(Likely) pathogenic	1 lab	9f81523508
2:96781413 ADRA2B C>A	2	96781413	96781413	C	A	ADRA2B	c.476G>T	NM_000682.7	NP_000673.2:p.(Arg159Leu)	NC_000002.11:g.96781413C>A	(Likely) benign	1 lab	9f85242883
10:123239438 FGFR2 G>A	10	123239438	123239438	G	A	FGFR2	c.2399C>T	NM_000141.5	NP_000132.3:p.(Pro800Leu)	NC_000010.10:g.123239438G>A	(Likely) benign	1 lab	9f8574b773
11:94349659 PIWIL4 G>A	11	94349659	94349659	G	A	PIWIL4	c.1944G>A	NM_152431.3	NP_689644.2:p.(Arg648=)	NC_000011.9:g.94349659G>A	(Likely) benign	1 lab	9f876dce90
11:46398702 DGKZ G>A	11	46398702	46398702	G	A	DGKZ	c.2279G>A	NM_001199267.2	NP_001186196.1:p.(Arg760Gln)	NC_000011.9:g.46398702G>A	VUS	1 lab	9f89d0ada4
3:158449960 RARRES1 A>C	3	158449960	158449960	A	C	RARRES1	c.245T>G	NM_206963.2	NP_996846.1:p.(Val82Gly)	NC_000003.11:g.158449960A>C	(Likely) benign	1 lab	9f8a0b816d
11:639830 DRD4 T>G	11	639830	639830	T	G	DRD4	c.581T>G	NM_000797.4	NP_000788.2:p.(Val194Gly)	NC_000011.9:g.639830T>G	(Likely) benign	1 lab	9f8a1edd7a
2:69297855 ANTXR1 G>C	2	69297855	69297855	G	C	ANTXR1	c.373G>C	NM_032208.3	NP_115584.1:p.(Glu125Gln)	NC_000002.11:g.69297855G>C	(Likely) benign	1 lab	9f8b249c19
19:15355260 BRD4 T>C	19	15355260	15355260	T	C	BRD4	c.2363A>G	NM_001379291.1	NP_001366220.1:p.(Gln788Arg)	NC_000019.9:g.15355260T>C	(Likely) benign	1 lab	9f8d42eae4
4:79366832 FRAS1 G>A	4	79366832	79366832	G	A	FRAS1	c.5822G>A	NM_025074.7	NP_079350.5:p.(Arg1941His)	NC_000004.11:g.79366832G>A	VUS	1 lab	9f8d575147
2:220027067 SLC23A3 G>T	2	220027067	220027067	G	T	SLC23A3	c.1491C>A	NM_001144889.2	NP_001138361.1:p.(Ile497=)	NC_000002.11:g.220027067G>T	VUS	1 lab	9f8eba3a24
12:116445353 MED13L G>C	12	116445353	116445353	G	C	MED13L	c.2101C>G	NM_015335.5	NP_056150.1:p.(Leu701Val)	NC_000012.11:g.116445353G>C	VUS	1 lab	9f8feafe9a
5:149360688 SLC26A2 A>T	5	149360688	149360688	A	T	SLC26A2	c.1532A>T	NM_000112.4	NP_000103.2:p.(Asp511Val)	NC_000005.9:g.149360688A>T	VUS	1 lab	9f921f08a2
16:16272728 ABCC6 G>A	16	16272728	16272728	G	A	ABCC6	c.2342C>T	NM_001171.6	NP_001162.5:p.(Ala781Val)	NC_000016.9:g.16272728G>A	VUS	1 lab	9f94009d17
18:50994324 DCC G>A	18	50994324	50994324	G	A	DCC	c.3680G>A	NM_005215.4	NP_005206.2:p.(Arg1227His)	NC_000018.9:g.50994324G>A	VUS	1 lab	9f95b532bb
20:61468485 COL9A3 T>C	20	61468485	61468485	T	C	COL9A3	c.1654T>C	NM_001853.4	NP_001844.3:p.(Ser552Pro)	NC_000020.10:g.61468485T>C	VUS	1 lab	9f989d15e3
12:977271 WNK1 C>T	12	977271	977271	C	T	WNK1	c.2379C>T	NM_001184985.1	NP_001171914.1:p.(Asn793=)	NC_000012.11:g.977271C>T	(Likely) benign	1 lab	28bca76b12
5:139493862 PURA GGGCGGTGGT>G	5	139493862	139493876	GGGCGGTGGT	G	PURA	c.102_110del	NM_005859.5	NP_005850.1:p.(Gly40_Gly42del)	NC_000005.9:g.139493868_139493876del	(Likely) benign	1 lab	9f9ebd9c1f
12:122260969 SETD1B G>C	12	122260969	122260969	G	C	SETD1B	c.4484G>C	NM_001353345.2	NP_001340274.1:p.(Arg1495Pro)	NC_000012.11:g.122260969G>C	(Likely) benign	1 lab	9f9f82f973
12:46287324 ARID2 A>T	12	46287324	46287324	A	T	ARID2	c.5269A>T	NM_152641.4	NP_689854.2:p.(Thr1757Ser)	NC_000012.11:g.46287324A>T	VUS	1 lab	9fa02600cd
14:42360452 LRFN5 G>GAATGATACCTCCTAC	14	42360452	42360467	G	GAATGATACCTCCTAC	LRFN5	c.1386_1400dup	NM_152447.5	NP_689660.2:p.(Met463_Thr467dup)	NC_000014.8:g.42360453_42360467dup	VUS	1 lab	9fa0674a0e
19:47870394 DHX34 C>T	19	47870394	47870394	C	T	DHX34	c.1750C>T	NM_014681.6	NP_055496.2:p.(Pro584Ser)	NC_000019.9:g.47870394C>T	VUS	1 lab	9fa10cc2b2
1:7724565 CAMTA1 C>T	1	7724565	7724565	C	T	CAMTA1	c.1958C>T	NM_015215.4	NP_056030.1:p.(Ser653Phe)	NC_000001.10:g.7724565C>T	VUS	1 lab	9fa20f5b91
3:49759462 GMPPB C>T	3	49759462	49759462	C	T	GMPPB	c.887G>A	NM_021971.4	NP_068806.2:p.(Arg296Gln)	NC_000003.11:g.49759462C>T	(Likely) benign	1 lab	9fa8c7cc3d
19:40363015 FCGBP C>T	19	40363015	40363015	C	T	FCGBP	c.15055G>A	NM_003890.3	NP_003881.2:p.(Gly5019Ser)	NC_000019.9:g.40363015C>T	(Likely) benign	1 lab	9fa9a25639
11:124744049 ROBO3 C>A	11	124744049	124744049	C	A	ROBO3	c.1868C>A	NM_022370.4	NP_071765.2:p.(Thr623Asn)	NC_000011.9:g.124744049C>A	VUS	1 lab	9fa9ff1586
18:24128327 KCTD1 C>G	18	24128327	24128327	C	G	KCTD1	c.174G>C	NM_001142730.3	NP_001136202.1:p.(Glu58Asp)	NC_000018.9:g.24128327C>G	(Likely) benign	1 lab	9faa920b15
18:31323741 ASXL3 A>C	18	31323741	31323741	A	C	ASXL3	c.3929A>C	NM_030632.3	NP_085135.1:p.(Glu1310Ala)	NC_000018.9:g.31323741A>C	(Likely) benign	1 lab	9fad37abd3
4:119659411 SEC24D C>A	4	119659411	119659411	C	A	SEC24D	c.2496+5G>T	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119659411C>A	(Likely) benign	1 lab	9fae279226
16:72923623 ZFHX3 C>T	16	72923623	72923623	C	T	ZFHX3	c.3448+7G>A	NM_006885.4	NP_008816.3:p.?	NC_000016.9:g.72923623C>T	(Likely) benign	1 lab	9faedb6c8c
3:149563935 RNF13 C>G	3	149563935	149563935	C	G	RNF13	c.114+8C>G	NM_183381.3	NP_899237.1:p.?	NC_000003.11:g.149563935C>G	(Likely) benign	1 lab	9faf1a48a1
X:132351849 TFDP3 G>A	X	132351849	132351849	G	A	TFDP3	c.439C>T	NM_016521.3	NP_057605.3:p.(His147Tyr)	NC_000023.10:g.132351849G>A	(Likely) benign	1 lab	9fb000b270
1:186055462 HMCN1 G>T	1	186055462	186055462	G	T	HMCN1	c.8969G>T	NM_031935.3	NP_114141.2:p.(Gly2990Val)	NC_000001.10:g.186055462G>T	VUS	1 lab	9fb0323df5
14:105406024 AHNAK2 G>C	14	105406024	105406024	G	C	AHNAK2	c.15764C>G	NM_138420.4	NP_612429.2:p.(Ala5255Gly)	NC_000014.8:g.105406024G>C	(Likely) benign	1 lab	9fb17d270a
11:46880739 LRP4 C>T	11	46880739	46880739	C	T	LRP4	c.5513G>A	NM_002334.4	NP_002325.2:p.(Arg1838Gln)	NC_000011.9:g.46880739C>T	(Likely) benign	1 lab	9fb36a7e8e
7:103276848 RELN C>G	7	103276848	103276848	C	G	RELN	c.2137G>C	NM_005045.4	NP_005036.2:p.(Glu713Gln)	NC_000007.13:g.103276848C>G	VUS	1 lab	9fb5aca4bf
11:128628102 FLI1 G>A	11	128628102	128628102	G	A	FLI1	c.111G>A	NM_002017.5	NP_002008.2:p.(Ser37=)	NC_000011.9:g.128628102G>A	(Likely) benign	1 lab	9fb5db7b94
8:145001482 PLEC G>C	8	145001482	145001482	G	C	PLEC	c.4189C>G	NM_201380.4	NP_958782.1:p.(Arg1397Gly)	NC_000008.10:g.145001482G>C	(Likely) benign	1 lab	28bffab2d2
4:158065015 GLRB A>G	4	158065015	158065015	A	G	GLRB	c.808A>G	NM_000824.5	NP_000815.1:p.(Met270Val)	NC_000004.11:g.158065015A>G	VUS	1 lab	9fb6b10169
4:6302645 WFS1 C>T	4	6302645	6302645	C	T	WFS1	c.1123C>T	NM_006005.3	NP_005996.2:p.(Arg375Cys)	NC_000004.11:g.6302645C>T	(Likely) benign	1 lab	9fb6e3e571
X:16696540 CTPS2 C>T	X	16696540	16696540	C	T	CTPS2	c.1039G>A	NM_175859.3	NP_787055.1:p.(Glu347Lys)	NC_000023.10:g.16696540C>T	(Likely) benign	1 lab	9fb70e1fab
1:236143846 NID1 T>C	1	236143846	236143846	T	C	NID1	c.3335A>G	NM_002508.3	NP_002499.2:p.(Asn1112Ser)	NC_000001.10:g.236143846T>C	VUS	1 lab	9fb98edac9
4:56283977 TMEM165 G>A	4	56283977	56283977	G	A	TMEM165	c.617G>A	NM_018475.5	NP_060945.2:p.(Arg206Gln)	NC_000004.11:g.56283977G>A	VUS	1 lab	9fb9931be0
12:79837940 SYT1 A>G	12	79837940	79837940	A	G	SYT1	c.1016A>G	NM_005639.3	NP_005630.1:p.(Tyr339Cys)	NC_000012.11:g.79837940A>G	(Likely) pathogenic	1 lab	9fba258bc9
6:43013736 CUL7 C>T	6	43013736	43013736	C	T	CUL7	c.2754G>A	NM_014780.5	NP_055595.2:p.(Thr918=)	NC_000006.11:g.43013736C>T	(Likely) benign	1 lab	9fba3c229e
11:17483192 ABCC8 G>T	11	17483192	17483192	G	T	ABCC8	c.760C>A	NM_000352.6	NP_000343.2:p.(Pro254Thr)	NC_000011.9:g.17483192G>T	VUS	1 lab	9fbae9cd9f
11:35327744 SLC1A2 C>T	11	35327744	35327744	C	T	SLC1A2	c.607G>A	NM_004171.4	NP_004162.2:p.(Glu203Lys)	NC_000011.9:g.35327744C>T	(Likely) benign	1 lab	9fbbdd1c97
12:79699729 SYT1 G>A	12	79699729	79699729	G	A	SYT1	c.810+6398G>A	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79699729G>A	(Likely) benign	1 lab	9fbdb26041
12:110240858 TRPV4 G>A	12	110240858	110240858	G	A	TRPV4	c.650C>T	NM_021625.5	NP_067638.3:p.(Ala217Val)	NC_000012.11:g.110240858G>A	(Likely) benign	1 lab	9fbde8f5fd
X:133379056 CCDC160 G>T	X	133379056	133379056	G	T	CCDC160	c.226G>T	NM_001353453.3	NP_001340382.1:p.(Glu76Ter)	NC_000023.10:g.133379056G>T	VUS	1 lab	9fc0415e5f
12:49364243 WNT10B T>C	12	49364243	49364243	T	C	WNT10B	c.70A>G	NM_003394.4	NP_003385.2:p.(Ser24Gly)	NC_000012.11:g.49364243T>C	VUS	1 lab	9fc098615d
11:6644172 DCHS1 C>T	11	6644172	6644172	C	T	DCHS1	c.8735G>A	NM_003737.4	NP_003728.1:p.(Arg2912Gln)	NC_000011.9:g.6644172C>T	VUS	1 lab	9fc217283a
4:159091764 GASK1B C>G	4	159091764	159091764	C	G	GASK1B	c.764G>C	NM_001128424.2	NP_001121896.1:p.(Gly255Ala)	NC_000004.11:g.159091764C>G	(Likely) benign	1 lab	9fc2a1c743
16:1256297 CACNA1H C>A	16	1256297	1256297	C	A	CACNA1H	c.2789+8C>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1256297C>A	(Likely) benign	1 lab	28c2e3d86d
11:17415799 ABCC8 G>A	11	17415799	17415799	G	A	ABCC8	c.4545+14C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17415799G>A	(Likely) benign	1 lab	9fc5c081b8
X:8434368 VCX3B G>A	X	8434368	8434368	G	A	VCX3B	c.685G>A	NM_001001888.4	NP_001001888.3:p.(Glu229Lys)	NC_000023.10:g.8434368G>A	VUS	1 lab	9fc65ea8ce
18:31325329 ASXL3 T>G	18	31325329	31325329	T	G	ASXL3	c.5517T>G	NM_030632.3	NP_085135.1:p.(Thr1839=)	NC_000018.9:g.31325329T>G	(Likely) benign	1 lab	9fc9357c97
5:34941236 DNAJC21 TATG>T	5	34941236	34941243	TATG	T	DNAJC21	c.936_938del	NM_001012339.3	NP_001012339.2:p.(Asp313del)	NC_000005.9:g.34941241_34941243del	VUS	1 lab	9fc9a30abc
9:134386780 POMT1 G>C	9	134386780	134386780	G	C	POMT1	c.912G>C	NM_001077365.2	NP_001070833.1:p.(Gln304His)	NC_000009.11:g.134386780G>C	VUS	1 lab	9fc9add3f6
8:87460703 WWP1 A>G	8	87460703	87460703	A	G	WWP1	c.2234A>G	NM_007013.4	NP_008944.1:p.(Asn745Ser)	NC_000008.10:g.87460703A>G	VUS	1 lab	9fca06a3c4
22:50655488 SELENOO G>A	22	50655488	50655488	G	A	SELENOO	c.1776G>A	NM_031454.2	NP_113642.1:p.(Pro592=)	NC_000022.10:g.50655488G>A	(Likely) benign	1 lab	9fcb3a53ff
17:4805239 CHRNE G>A	17	4805239	4805239	G	A	CHRNE	c.488C>T	NM_000080.4	NP_000071.1:p.(Ser163Leu)	NC_000017.10:g.4805239G>A	VUS	1 lab	9fcc3c4f6e
5:151202259 GLRA1 C>T	5	151202259	151202259	C	T	GLRA1	c.1325G>A	NM_000171.4	NP_000162.2:p.(Arg442His)	NC_000005.9:g.151202259C>T	VUS	1 lab	9fcc80df6b
2:74326394 TET3 T>C	2	74326394	74326394	T	C	TET3	c.3268-9T>C	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74326394T>C	(Likely) benign	1 lab	9fcddac2fd
17:63533673 AXIN2 G>A	17	63533673	63533673	G	A	AXIN2	c.1481C>T	NM_004655.4	NP_004646.3:p.(Pro494Leu)	NC_000017.10:g.63533673G>A	VUS	1 lab	9fcf28e9f5
4:88977295 PKD2 C>T	4	88977295	88977295	C	T	PKD2	c.1774C>T	NM_000297.4	NP_000288.1:p.(Arg592Ter)	NC_000004.11:g.88977295C>T	(Likely) pathogenic	1 lab	9fd09f358d
16:56543915 BBS2 C>T	16	56543915	56543915	C	T	BBS2	c.566G>A	NM_031885.5	NP_114091.4:p.(Arg189Gln)	NC_000016.9:g.56543915C>T	VUS	1 lab	9fd0f9fd61
X:104464841 IL1RAPL2 T>C	X	104464841	104464841	T	C	IL1RAPL2	c.357-13661T>C	NM_017416.2	NP_059112.1:p.?	NC_000023.10:g.104464841T>C	VUS	1 lab	9fd13bb6dc
2:165947123 SCN3A A>G	2	165947123	165947123	A	G	SCN3A	c.5540T>C	NM_006922.4	NP_008853.3:p.(Ile1847Thr)	NC_000002.11:g.165947123A>G	(Likely) benign	1 lab	9fd1abfbbe
12:56397648 SUOX G>A	12	56397648	56397648	G	A	SUOX	c.475G>A	NM_001032386.2	NP_001027558.1:p.(Glu159Lys)	NC_000012.11:g.56397648G>A	VUS	1 lab	9fd218d277
2:220316365 SPEG G>A	2	220316365	220316365	G	A	SPEG	c.2276G>A	NM_005876.5	NP_005867.3:p.(Gly759Glu)	NC_000002.11:g.220316365G>A	VUS	1 lab	9fd21ad81e
2:179638078 TTN C>T	2	179638078	179638078	C	T	TTN	c.7613G>A	NM_001267550.2	NP_001254479.2:p.(Gly2538Asp)	NC_000002.11:g.179638078C>T	(Likely) benign	1 lab	9fd21f0d9d
X:48921951 CCDC120 C>G	X	48921951	48921951	C	G	CCDC120	c.480C>G	NM_001163321.4	NP_001156793.2:p.(Ile160Met)	NC_000023.10:g.48921951C>G	(Likely) benign	1 lab	9fd3a4af0f
9:35792648 NPR2 G>A	9	35792648	35792648	G	A	NPR2	c.243G>A	NM_003995.4	NP_003986.2:p.(Pro81=)	NC_000009.11:g.35792648G>A	(Likely) benign	1 lab	9fd4ba7d2a
10:73450287 CDH23 T>G	10	73450287	73450287	T	G	CDH23	c.2122T>G	NM_022124.6	NP_071407.4:p.(Ser708Ala)	NC_000010.10:g.73450287T>G	VUS	1 lab	9fd56576be
3:30713517 TGFBR2 A>G	3	30713517	30713517	A	G	TGFBR2	c.842A>G	NM_003242.6	NP_003233.4:p.(Tyr281Cys)	NC_000003.11:g.30713517A>G	VUS	1 lab	9fd5cf258c
20:18507068 SEC23B C>A	20	18507068	18507068	C	A	SEC23B	c.886C>A	NM_006363.6	NP_006354.2:p.(Pro296Thr)	NC_000020.10:g.18507068C>A	VUS	1 lab	9fd802a5b8
7:2582878 BRAT1 T>C	7	2582878	2582878	T	C	BRAT1	c.883A>G	NM_152743.4	NP_689956.2:p.(Met295Val)	NC_000007.13:g.2582878T>C	(Likely) benign	1 lab	9fd87d101f
15:72063554 THSD4 A>C	15	72063554	72063554	A	C	THSD4	c.2914+7A>C	NM_024817.3	NP_079093.2:p.?	NC_000015.9:g.72063554A>C	(Likely) benign	1 lab	9fd9e495ab
10:88451826 LDB3 A>G	10	88451826	88451826	A	G	LDB3	c.859+4A>G	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88451826A>G	VUS	1 lab	9fdab9d59e
12:49427293 KMT2D T>C	12	49427293	49427293	T	C	KMT2D	c.11195A>G	NM_003482.4	NP_003473.3:p.(Gln3732Arg)	NC_000012.11:g.49427293T>C	VUS	1 lab	9fdb37eaa7
10:135180493 ECHS1 C>T	10	135180493	135180493	C	T	ECHS1	c.519G>A	NM_004092.4	NP_004083.3:p.(Ala173=)	NC_000010.10:g.135180493C>T	VUS	1 lab	9fdc83191f
3:175520828 NAALADL2 G>A	3	175520828	175520828	G	A	NAALADL2	c.2225G>A	NM_207015.3	NP_996898.2:p.(Arg742Gln)	NC_000003.11:g.175520828G>A	VUS	1 lab	9fdd9082da
6:42934097 PEX6 G>A	6	42934097	42934097	G	A	PEX6	c.2183C>T	NM_000287.4	NP_000278.3:p.(Pro728Leu)	NC_000006.11:g.42934097G>A	VUS	1 lab	9fddff6cc4
19:47979779 KPTN C>T	19	47979779	47979779	C	T	KPTN	c.1182+10G>A	NM_007059.4	NP_008990.2:p.?	NC_000019.9:g.47979779C>T	(Likely) benign	1 lab	9fdec3b09e
9:5073692 JAK2 C>T	9	5073692	5073692	C	T	JAK2	c.1777-6C>T	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5073692C>T	(Likely) benign	1 lab	9fe062e1f5
11:96124465 JRKL A>T	11	96124465	96124465	A	T	JRKL	c.652A>T	NM_001261833.2	NP_001248762.1:p.(Thr218Ser)	NC_000011.9:g.96124465A>T	VUS	1 lab	9fe15c0fb3
5:149915311 NDST1 C>T	5	149915311	149915311	C	T	NDST1	c.1301C>T	NM_001543.5	NP_001534.1:p.(Ser434Leu)	NC_000005.9:g.149915311C>T	VUS	1 lab	9fe43fd87b
X:101382202 TCEAL2 A>G	X	101382202	101382202	A	G	TCEAL2	c.400A>G	NM_080390.4	NP_525129.1:p.(Ile134Val)	NC_000023.10:g.101382202A>G	VUS	1 lab	9fe4b41380
9:98774923 ERCC6L2 C>T	9	98774923	98774923	C	T	ERCC6L2	c.4091C>T	NM_020207.7	NP_064592.3:p.(Thr1364Ile)	NC_000009.11:g.98774923C>T	VUS	1 lab	9fe5bdd72b
10:17365143 ST8SIA6 G>C	10	17365143	17365143	G	C	ST8SIA6	c.649C>G	NM_001004470.3	NP_001004470.1:p.(Pro217Ala)	NC_000010.10:g.17365143G>C	(Likely) benign	1 lab	9fe78dc932
17:56798087 RAD51C C>G	17	56798087	56798087	C	G	RAD51C	c.838-20C>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56798087C>G	(Likely) benign	1 lab	9fe84f56e8
19:4359162 MPND G>C	19	4359162	4359162	G	C	MPND	c.1329G>C	NM_001300862.2	NP_001287791.1:p.(Met443Ile)	NC_000019.9:g.4359162G>C	(Likely) benign	1 lab	9fe8ddfb96
20:42744625 JPH2 G>A	20	42744625	42744625	G	A	JPH2	c.1690C>T	NM_020433.5	NP_065166.2:p.(Gln564Ter)	NC_000020.10:g.42744625G>A	VUS	1 lab	2748c34ac2
2:178576501 PDE11A C>T	2	178576501	178576501	C	T	PDE11A	c.2149G>A	NM_016953.4	NP_058649.3:p.(Ala717Thr)	NC_000002.11:g.178576501C>T	VUS	1 lab	9feb4c8b38
5:42718577 GHR A>G	5	42718577	42718577	A	G	GHR	c.968A>G	NM_000163.5	NP_000154.1:p.(Asn323Ser)	NC_000005.9:g.42718577A>G	(Likely) benign	1 lab	9fecb4ab6c
19:42858876 MEGF8 C>T	19	42858876	42858876	C	T	MEGF8	c.4144+4C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42858876C>T	VUS	1 lab	9fece0d3dd
1:27120659 PIGV G>A	1	27120659	27120659	G	A	PIGV	c.134G>A	NM_017837.4	NP_060307.2:p.(Arg45His)	NC_000001.10:g.27120659G>A	VUS	1 lab	9fedb770a1
20:49510659 ADNP C>T	20	49510659	49510659	C	T	ADNP	c.592G>A	NM_001282531.3	NP_001269460.1:p.(Ala198Thr)	NC_000020.10:g.49510659C>T	VUS	1 lab	9fedd3c343
2:110905484 NPHP1 C>T	2	110905484	110905484	C	T	NPHP1	c.1437+9G>A	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110905484C>T	(Likely) benign	1 lab	28c8d41deb
16:11367302 PRM3 C>T	16	11367302	11367302	C	T	PRM3	c.151G>A	NM_021247.3	NP_067070.2:p.(Glu51Lys)	NC_000016.9:g.11367302C>T	VUS	1 lab	9ff16d7df6
13:79176674 POU4F1 G>A	13	79176674	79176674	G	A	POU4F1	c.136C>T	NM_006237.4	NP_006228.3:p.(Leu46Phe)	NC_000013.10:g.79176674G>A	(Likely) benign	1 lab	9ff1929083
7:47840305 PKD1L1 G>A	7	47840305	47840305	G	A	PKD1L1	c.8135C>T	NM_138295.5	NP_612152.1:p.(Ala2712Val)	NC_000007.13:g.47840305G>A	VUS	1 lab	9ff196fe79
6:170176727 ERMARD T>A	6	170176727	170176727	T	A	ERMARD	c.1697T>A	NM_018341.3	NP_060811.1:p.(Leu566Gln)	NC_000006.11:g.170176727T>A	VUS	1 lab	9ff20ce4e9
7:91855916 KRIT1 G>C	7	91855916	91855916	G	C	KRIT1	c.1070C>G	NM_194454.3	NP_919436.1:p.(Ser357Cys)	NC_000007.13:g.91855916G>C	(Likely) benign	1 lab	9ff363a49e
12:42853796 PRICKLE1 C>T	12	42853796	42853796	C	T	PRICKLE1	c.2311G>A	NM_153026.3	NP_694571.2:p.(Asp771Asn)	NC_000012.11:g.42853796C>T	VUS	1 lab	9ff36a34c7
3:124906235 SLC12A8 G>A	3	124906235	124906235	G	A	SLC12A8	c.236C>T	NM_024628.6	NP_078904.4:p.(Ser79Phe)	NC_000003.11:g.124906235G>A	VUS	1 lab	9ff48fd36d
12:28116371 PTHLH G>A	12	28116371	28116371	G	A	PTHLH	c.434C>T	NM_198965.2	NP_945316.1:p.(Ser145Phe)	NC_000012.11:g.28116371G>A	(Likely) benign	1 lab	9ff4a46f52
12:109972535 UBE3B G>A	12	109972535	109972535	G	A	UBE3B	c.3155G>A	NM_130466.4	NP_569733.2:p.(Arg1052His)	NC_000012.11:g.109972535G>A	VUS	1 lab	9ff685eb5f
19:38964161 RYR1 G>T	19	38964161	38964161	G	T	RYR1	c.3910G>T	NM_000540.3	NP_000531.2:p.(Ala1304Ser)	NC_000019.9:g.38964161G>T	VUS	1 lab	9ff79fea8d
9:35793875 NPR2 T>C	9	35793875	35793875	T	C	NPR2	c.668-20T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35793875T>C	(Likely) benign	1 lab	9ff8120abc
20:50307357 ATP9A T>C	20	50307357	50307357	T	C	ATP9A	c.644A>G	NM_006045.3	NP_006036.1:p.(Asp215Gly)	NC_000020.10:g.50307357T>C	VUS	1 lab	9ff89dfc6c
10:71008316 HKDC1 A>G	10	71008316	71008316	A	G	HKDC1	c.1402A>G	NM_025130.4	NP_079406.4:p.(Lys468Glu)	NC_000010.10:g.71008316A>G	VUS	1 lab	9ffa512006
11:124739346 ROBO3 T>C	11	124739346	124739346	T	C	ROBO3	c.488T>C	NM_022370.4	NP_071765.2:p.(Val163Ala)	NC_000011.9:g.124739346T>C	(Likely) benign	1 lab	9ffb7820e6
12:124341635 DNAH10 G>C	12	124341635	124341635	G	C	DNAH10	c.6471G>C	NM_001372106.1	NP_001359035.1:p.(Met2157Ile)	NC_000012.11:g.124341635G>C	VUS	1 lab	9ffc14dd8d
22:24581511 SUSD2 G>A	22	24581511	24581511	G	A	SUSD2	c.1042G>A	NM_019601.4	NP_062547.1:p.(Val348Met)	NC_000022.10:g.24581511G>A	VUS	1 lab	9fffa56904
12:133240754 POLE C>G	12	133240754	133240754	C	G	POLE	c.2562-20G>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133240754C>G	VUS	1 lab	a0006420c1
17:79684843 SLC25A10 C>T	17	79684843	79684843	C	T	SLC25A10	c.657C>T	NM_012140.5	NP_036272.2:p.(Pro219=)	NC_000017.10:g.79684843C>T	(Likely) benign	1 lab	a00137be9d
7:128845511 SMO G>A	7	128845511	128845511	G	A	SMO	c.808G>A	NM_005631.5	NP_005622.1:p.(Val270Ile)	NC_000007.13:g.128845511G>A	(Likely) benign	1 lab	a001657145
19:14736418 ADGRE3 C>T	19	14736418	14736418	C	T	ADGRE3	c.1813-7G>A	NM_032571.5	NP_115960.2:p.?	NC_000019.9:g.14736418C>T	(Likely) benign	1 lab	a005840ed5
1:202720034 KDM5B AC>A	1	202720034	202720035	AC	A	KDM5B	c.1702-129del	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202720035del	(Likely) benign	1 lab	a0070f955c
12:121426835 HNF1A C>T	12	121426835	121426835	C	T	HNF1A	c.526C>T	NM_000545.8	NP_000536.6:p.(Gln176Ter)	NC_000012.11:g.121426835C>T	(Likely) pathogenic	1 lab	a008c50897
2:170062977 LRP2 T>C	2	170062977	170062977	T	C	LRP2	c.7253A>G	NM_004525.3	NP_004516.2:p.(Glu2418Gly)	NC_000002.11:g.170062977T>C	(Likely) benign	1 lab	a009473974
2:220434993 OBSL1 G>A	2	220434993	220434993	G	A	OBSL1	c.962C>T	NM_015311.3	NP_056126.1:p.(Ala321Val)	NC_000002.11:g.220434993G>A	VUS	1 lab	a009606d0a
16:2115578 TSC2 A>G	16	2115578	2115578	A	G	TSC2	c.1658A>G	NM_000548.5	NP_000539.2:p.(Tyr553Cys)	NC_000016.9:g.2115578A>G	VUS	1 lab	a00ac9a48a
15:42703181 CAPN3 G>T	15	42703181	42703181	G	T	CAPN3	c.2363G>T	NM_000070.3	NP_000061.1:p.(Arg788Met)	NC_000015.9:g.42703181G>T	(Likely) pathogenic	1 lab	a00b9cfd6b
1:151260715 ZNF687 G>A	1	151260715	151260715	G	A	ZNF687	c.1948G>A	NM_020832.3	NP_065883.1:p.(Ala650Thr)	NC_000001.10:g.151260715G>A	VUS	1 lab	a00c51df69
1:110163805 AMPD2 C>T	1	110163805	110163805	C	T	AMPD2	c.8C>T	NM_001368809.2	NP_001355738.1:p.(Ser3Phe)	NC_000001.10:g.110163805C>T	VUS	1 lab	a00d7b0f0d
9:135946743 CEL G>A	9	135946743	135946743	G	A	CEL	c.1854G>A	NM_001807.6	NP_001798.3:p.(Thr618=)	NC_000009.11:g.135946743G>A	(Likely) benign	1 lab	a00db6e7ef
12:49424443 KMT2D C>G	12	49424443	49424443	C	G	KMT2D	c.13780G>C	NM_003482.4	NP_003473.3:p.(Ala4594Pro)	NC_000012.11:g.49424443C>G	(Likely) benign	1 lab	a00e0f3c49
15:43820876 MAP1A G>A	15	43820876	43820876	G	A	MAP1A	c.7205G>A	NM_002373.6	NP_002364.5:p.(Arg2402Gln)	NC_000015.9:g.43820876G>A	VUS	1 lab	a0100324df
5:60628574 ZSWIM6 CCGGCCGCAACCTCGG>C	5	60628574	60628605	CCGGCCGCAACCTCGG	C	ZSWIM6	c.492_506del	NM_020928.2	NP_065979.1:p.(Thr167_Ala171del)	NC_000005.9:g.60628591_60628605del	(Likely) benign	1 lab	a01136f893
19:10286277 DNMT1 G>C	19	10286277	10286277	G	C	DNMT1	c.587C>G	NM_001130823.3	NP_001124295.1:p.(Pro196Arg)	NC_000019.9:g.10286277G>C	VUS	1 lab	a0151e1854
1:201337290 TNNT2 C>T	1	201337290	201337290	C	T	TNNT2	c.133G>A	NM_001001430.3	NP_001001430.1:p.(Glu45Lys)	NC_000001.10:g.201337290C>T	VUS	1 lab	274e6fb476
X:55020356 PFKFB1 G>A	X	55020356	55020356	G	A	PFKFB1	c.85C>T	NM_002625.4	NP_002616.2:p.(Arg29Trp)	NC_000023.10:g.55020356G>A	VUS	1 lab	a016a30db3
3:136149751 STAG1 C>CTT	3	136149751	136149762	C	CTT	STAG1	c.1650+2645_1650+2646dup	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136149761_136149762dup	(Likely) benign	1 lab	a01804b3bc
1:179544780 NPHS2 C>T	1	179544780	179544780	C	T	NPHS2	c.220G>A	NM_014625.3	NP_055440.1:p.(Gly74Ser)	NC_000001.10:g.179544780C>T	(Likely) benign	1 lab	28c92351a3
7:21730477 DNAH11 G>A	7	21730477	21730477	G	A	DNAH11	c.6019G>A	NM_001277115.2	NP_001264044.1:p.(Glu2007Lys)	NC_000007.13:g.21730477G>A	VUS	1 lab	a01a089591
9:130986594 DNM1 C>T	9	130986594	130986594	C	T	DNM1	c.1261C>T	NM_004408.4	NP_004399.2:p.(Arg421Ter)	NC_000009.11:g.130986594C>T	VUS	1 lab	a01ed64993
18:19345780 MIB1 A>G	18	19345780	19345780	A	G	MIB1	c.277A>G	NM_020774.4	NP_065825.1:p.(Ile93Val)	NC_000018.9:g.19345780A>G	VUS	1 lab	a02024c098
18:53128047 TCF4 C>A	18	53128047	53128047	C	A	TCF4	c.304+203G>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53128047C>A	(Likely) benign	1 lab	28ce4b00e0
2:27802994 SPATA31H1 T>G	2	27802994	27802994	T	G	SPATA31H1	c.13767T>G	NM_032266.5	NP_115642.4:p.(Asp4589Glu)	NC_000002.11:g.27802994T>G	VUS	1 lab	a022df2be5
Y:14832537 USP9Y T>A	Y	14832537	14832537	T	A	USP9Y	c.112T>A	NM_004654.4	NP_004645.2:p.(Ser38Thr)	NC_000024.9:g.14832537T>A	(Likely) benign	1 lab	a0231f6a9e
18:56058725 NEDD4L A>G	18	56058725	56058725	A	G	NEDD4L	c.2699A>G	NM_015277.6	NP_056092.2:p.(Asn900Ser)	NC_000018.9:g.56058725A>G	VUS	1 lab	274eb08bbc
15:89876725 POLGARF G>T	15	89876725	89876725	G	T	POLGARF	c.316C>A	NM_001430120.1	NP_001417049.1:p.(Leu106Ile)	NC_000015.9:g.89876725G>T	(Likely) benign	1 lab	a024424605
6:79787416 PHIP C>T	6	79787416	79787416	C	T	PHIP	c.129+1G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79787416C>T	(Likely) pathogenic	1 lab	a024b41375
12:7046845 ATN1 T>C	12	7046845	7046845	T	C	ATN1	c.2294+121T>C	NM_001940.4	NP_001931.2:p.?	NC_000012.11:g.7046845T>C	(Likely) benign	1 lab	a03b35d944
2:179421713 TTN C>G	2	179421713	179421713	C	G	TTN	c.83245G>C	NM_001256850.1	NP_001243779.1:p.(Val27749Leu)	NC_000002.11:g.179421713C>G	VUS	1 lab	2750ba108f
9:111673436 ELP1 C>T	9	111673436	111673436	C	T	ELP1	c.1214G>A	NM_003640.5	NP_003631.2:p.(Arg405Gln)	NC_000009.11:g.111673436C>T	VUS	1 lab	a025c3ebf6
10:123286259 FGFR2 A>C	10	123286259	123286259	A	C	FGFR2	c.749-6576T>G	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123286259A>C	VUS	1 lab	a02619ba9a
13:23904332 SACS C>T	13	23904332	23904332	C	T	SACS	c.13683G>A	NM_014363.6	NP_055178.3:p.(Met4561Ile)	NC_000013.10:g.23904332C>T	VUS	1 lab	a0264dfbf6
15:85400553 ALPK3 C>T	15	85400553	85400553	C	T	ALPK3	c.2584C>T	NM_020778.5	NP_065829.4:p.(Gln862Ter)	NC_000015.9:g.85400553C>T	(Likely) pathogenic	1 lab	a026c68782
19:10224430 P2RY11 C>A	19	10224430	10224430	C	A	P2RY11	c.141C>A	NM_002566.5	NP_002557.2:p.(Gly47=)	NC_000019.9:g.10224430C>A	(Likely) benign	1 lab	a0291edada
X:103495477 ESX1 A>T	X	103495477	103495477	A	T	ESX1	c.653T>A	NM_153448.4	NP_703149.1:p.(Phe218Tyr)	NC_000023.10:g.103495477A>T	(Likely) benign	1 lab	a02b9c2cd0
X:605163 SHOX CGCACCCGCACCT>C	X	605163	605188	CGCACCCGCACCT	C	SHOX	c.685_696del	NM_000451.3	NP_000442.1:p.(His229_Leu232del)	NC_000023.10:g.605177_605188del	(Likely) pathogenic	1 lab	a02bc98cdf
20:31022853 ASXL1 C>G	20	31022853	31022853	C	G	ASXL1	c.2338C>G	NM_015338.6	NP_056153.2:p.(Gln780Glu)	NC_000020.10:g.31022853C>G	(Likely) benign	1 lab	a02c5a3315
11:792312 SLC25A22 G>C	11	792312	792312	G	C	SLC25A22	c.734C>G	NM_001191061.2	NP_001177990.1:p.(Pro245Arg)	NC_000011.9:g.792312G>C	VUS	1 lab	a031f4b0f6
12:113596704 CFAP73 C>T	12	113596704	113596704	C	T	CFAP73	c.*210C>T	NM_001144872.3	NP_001138344.1:p.?	NC_000012.11:g.113596704C>T	VUS	1 lab	a03478b60c
17:56403764 TSPOAP1 C>A	17	56403764	56403764	C	A	TSPOAP1	c.460G>T	NM_004758.4	NP_004749.2:p.(Glu154Ter)	NC_000017.10:g.56403764C>A	VUS	1 lab	a0356338c2
X:129045778 UTP14A G>A	X	129045778	129045778	G	A	UTP14A	c.418G>A	NM_006649.4	NP_006640.2:p.(Val140Ile)	NC_000023.10:g.129045778G>A	(Likely) benign	1 lab	a0360f7657
17:74017871 EVPL G>A	17	74017871	74017871	G	A	EVPL	c.808-9C>T	NM_001988.4	NP_001979.2:p.?	NC_000017.10:g.74017871G>A	(Likely) benign	1 lab	a03947e794
19:18376537 IQCN T>C	19	18376537	18376537	T	C	IQCN	c.1813A>G	NM_001145304.2	NP_001138776.1:p.(Lys605Glu)	NC_000019.9:g.18376537T>C	(Likely) benign	1 lab	a039bd9527
11:2906320 CDKN1C C>G	11	2906320	2906320	C	G	CDKN1C	c.367G>C	NM_001122630.2	NP_001116102.1:p.(Glu123Gln)	NC_000011.9:g.2906320C>G	VUS	1 lab	a03b77c185
1:22149889 LDLRAD2 G>A	1	22149889	22149889	G	A	LDLRAD2	c.*1181G>A	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149889G>A	VUS	1 lab	a03cadeab5
X:24382420 SUPT20HL1 GCTGCTGCTCCTGCTC>G	X	24382420	24382440	GCTGCTGCTCCTGCTC	G	SUPT20HL1	c.1549_1563del	NM_001136234.3	NP_001129706.3:p.(Ala517_Ala521del)	NC_000023.10:g.24382426_24382440del	(Likely) benign	1 lab	a03cc3378e
15:52681464 MYO5A C>T	15	52681464	52681464	C	T	MYO5A	c.1639G>A	NM_001382347.1	NP_001369276.1:p.(Ala547Thr)	NC_000015.9:g.52681464C>T	VUS	1 lab	a03d34683d
3:48506237 ATRIP G>A	3	48506237	48506237	G	A	ATRIP	c.2063G>A	NM_130384.3	NP_569055.1:p.(Arg688Lys)	NC_000003.11:g.48506237G>A	VUS	1 lab	a03f546d71
6:87966956 ZNF292 G>C	6	87966956	87966956	G	C	ZNF292	c.3609G>C	NM_015021.3	NP_055836.1:p.(Leu1203Phe)	NC_000006.11:g.87966956G>C	(Likely) benign	1 lab	a03ffb7610
21:30698748 BACH1 C>G	21	30698748	30698748	C	G	BACH1	c.603C>G	NM_001186.4	NP_001177.1:p.(Asp201Glu)	NC_000021.8:g.30698748C>G	(Likely) benign	1 lab	a0423a4f4f
11:14370883 RRAS2 A>G	11	14370883	14370883	A	G	RRAS2	c.108+9426T>C	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14370883A>G	VUS	1 lab	a042c4a7f1
17:4846508 RNF167 C>T	17	4846508	4846508	C	T	RNF167	c.505C>T	NM_015528.3	NP_056343.1:p.(Pro169Ser)	NC_000017.10:g.4846508C>T	VUS	1 lab	a0449d336f
16:30715571 SRCAP G>C	16	30715571	30715571	G	C	SRCAP	c.241G>C	NM_006662.3	NP_006653.2:p.(Asp81His)	NC_000016.9:g.30715571G>C	(Likely) benign	1 lab	a044e95f67
17:68172454 KCNJ2 C>T	17	68172454	68172454	C	T	KCNJ2	c.1274C>T	NM_000891.3	NP_000882.1:p.(Ser425Leu)	NC_000017.10:g.68172454C>T	VUS	1 lab	a0454499de
16:72993837 ZFHX3 G>C	16	72993837	72993837	G	C	ZFHX3	c.208C>G	NM_006885.4	NP_008816.3:p.(Pro70Ala)	NC_000016.9:g.72993837G>C	VUS	1 lab	a0459cebb3
5:64887269 TRIM23 A>G	5	64887269	64887269	A	G	TRIM23	c.*327T>C	NM_001656.4	NP_001647.1:p.?	NC_000005.9:g.64887269A>G	VUS	1 lab	a0486a522b
4:156269063 MAP9 G>A	4	156269063	156269063	G	A	MAP9	c.1822-6C>T	NM_001039580.2	NP_001034669.1:p.?	NC_000004.11:g.156269063G>A	(Likely) benign	1 lab	a0490542a4
10:127462611 MMP21 G>A	10	127462611	127462611	G	A	MMP21	c.486C>T	NM_147191.1	NP_671724.1:p.(Tyr162=)	NC_000010.10:g.127462611G>A	(Likely) benign	1 lab	a0490666e4
1:226564910 PARP1 A>G	1	226564910	226564910	A	G	PARP1	c.1840T>C	NM_001618.4	NP_001609.2:p.(Phe614Leu)	NC_000001.10:g.226564910A>G	VUS	1 lab	a049eee69f
16:51173317 SALL1 T>C	16	51173317	51173317	T	C	SALL1	c.2816A>G	NM_002968.3	NP_002959.2:p.(His939Arg)	NC_000016.9:g.51173317T>C	VUS	1 lab	a04a19dc11
2:219922434 IHH G>A	2	219922434	219922434	G	A	IHH	c.316-18C>T	NM_002181.4	NP_002172.2:p.?	NC_000002.11:g.219922434G>A	(Likely) benign	1 lab	a04d168d58
19:3759559 APBA3 C>T	19	3759559	3759559	C	T	APBA3	c.616G>A	NM_004886.4	NP_004877.1:p.(Val206Met)	NC_000019.9:g.3759559C>T	VUS	1 lab	a04d624864
9:116929987 COL27A1 G>A	9	116929987	116929987	G	A	COL27A1	c.152G>A	NM_032888.4	NP_116277.2:p.(Arg51Gln)	NC_000009.11:g.116929987G>A	(Likely) benign	1 lab	a04efc97a0
X:49071980 CACNA1F G>A	X	49071980	49071980	G	A	CACNA1F	c.3260C>T	NM_001256789.3	NP_001243718.1:p.(Ala1087Val)	NC_000023.10:g.49071980G>A	VUS	1 lab	a04f07f7f3
15:42145976 SPTBN5 C>T	15	42145976	42145976	C	T	SPTBN5	c.9784G>A	NM_016642.4	NP_057726.4:p.(Glu3262Lys)	NC_000015.9:g.42145976C>T	(Likely) benign	1 lab	a0509d8ecf
15:91346867 BLM T>C	15	91346867	91346867	T	C	BLM	c.3475T>C	NM_000057.2	NP_000048.1:p.(Leu1159=)	NC_000015.9:g.91346867T>C	(Likely) benign	1 lab	32ab593165
2:73651599 ALMS1 G>A	2	73651599	73651599	G	A	ALMS1	c.806G>A	NM_001378454.1	NP_001365383.1:p.(Arg269Gln)	NC_000002.11:g.73651599G>A	(Likely) benign	1 lab	a056bad139
10:73122139 SLC29A3 G>A	10	73122139	73122139	G	A	SLC29A3	c.1202G>A	NM_018344.6	NP_060814.4:p.(Arg401His)	NC_000010.10:g.73122139G>A	VUS	1 lab	a058d9938b
6:87970272 ZNF292 G>C	6	87970272	87970272	G	C	ZNF292	c.6925G>C	NM_015021.3	NP_055836.1:p.(Glu2309Gln)	NC_000006.11:g.87970272G>C	(Likely) benign	1 lab	a058dfbabe
8:96264436 CFAP418 C>T	8	96264436	96264436	C	T	CFAP418	c.450G>A	NM_177965.4	NP_808880.1:p.(Ser150=)	NC_000008.10:g.96264436C>T	(Likely) benign	1 lab	a05993487e
5:70922543 MCCC2 G>A	5	70922543	70922543	G	A	MCCC2	c.701G>A	NM_022132.5	NP_071415.1:p.(Arg234His)	NC_000005.9:g.70922543G>A	VUS	1 lab	a0599c88ba
9:2052432 SMARCA2 T>C	9	2052432	2052432	T	C	SMARCA2	c.1047-2165T>C	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2052432T>C	(Likely) benign	1 lab	a05c83cbf8
1:155317494 ASH1L C>T	1	155317494	155317494	C	T	ASH1L	c.7756G>A	NM_018489.3	NP_060959.2:p.(Gly2586Ser)	NC_000001.10:g.155317494C>T	VUS	1 lab	a05d56506e
10:90524240 LIPN TG>T	10	90524240	90524242	TG	T	LIPN	c.302del	NM_001102469.2	NP_001095939.1:p.(Gly101GlufsTer7)	NC_000010.10:g.90524242del	VUS	1 lab	a05f267a85
6:29640802 ZFP57 A>G	6	29640802	29640802	A	G	ZFP57	c.1086T>C	NM_001109809.5	NP_001103279.2:p.(Thr362=)	NC_000006.11:g.29640802A>G	(Likely) benign	1 lab	a05fbdf8c6
21:46875637 COL18A1 AC>A	21	46875637	46875643	AC	A	COL18A1	c.107-12513del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875643del	(Likely) benign	1 lab	a060934c23
12:266243 IQSEC3 C>T	12	266243	266243	C	T	IQSEC3	c.2206C>T	NM_001170738.2	NP_001164209.1:p.(Arg736Cys)	NC_000012.11:g.266243C>T	VUS	1 lab	a083ce78ce
20:57415792 GNAS-AS1 AAGG>A	20	57415792	57415800	AAGG	A	GNAS-AS1	n.672+1197_672+1199del	NR_185847.1		NC_000020.10:g.57415798_57415800del	VUS	1 lab	a064e666f8
19:42840107 MEGF8 G>A	19	42840107	42840107	G	A	MEGF8	c.853G>A	NM_001271938.2	NP_001258867.1:p.(Val285Met)	NC_000019.9:g.42840107G>A	(Likely) benign	1 lab	a0670d3e84
X:140995939 MAGEC1 C>T	X	140995939	140995939	C	T	MAGEC1	c.2749C>T	NM_005462.5	NP_005453.2:p.(Arg917Trp)	NC_000023.10:g.140995939C>T	(Likely) benign	1 lab	a06734290c
12:95397373 NDUFA12 G>GA	12	95397373	95397380	G	GA	NDUFA12	c.83dup	NM_018838.5	NP_061326.1:p.(Arg29GlnfsTer4)	NC_000012.11:g.95397380dup	VUS	1 lab	a0677bea54
11:46898361 LRP4 T>A	11	46898361	46898361	T	A	LRP4	c.3298A>T	NM_002334.4	NP_002325.2:p.(Ser1100Cys)	NC_000011.9:g.46898361T>A	VUS	1 lab	a0686ca451
X:129154962 BCORL1 C>T	X	129154962	129154962	C	T	BCORL1	c.3444C>T	NM_001379451.1	NP_001366380.1:p.(Cys1148=)	NC_000023.10:g.129154962C>T	(Likely) benign	1 lab	a06970fd99
11:17483187 ABCC8 G>A	11	17483187	17483187	G	A	ABCC8	c.765C>T	NM_000352.6	NP_000343.2:p.(Ile255=)	NC_000011.9:g.17483187G>A	(Likely) benign	1 lab	a06a22cd4b
16:77325163 ADAMTS18 C>T	16	77325163	77325163	C	T	ADAMTS18	c.3402G>A	NM_199355.4	NP_955387.1:p.(Gln1134=)	NC_000016.9:g.77325163C>T	VUS	1 lab	a06bc95e51
9:138662301 KCNT1 C>A	9	138662301	138662301	C	A	KCNT1	c.1769+8C>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662301C>A	(Likely) benign	1 lab	32afd2adb4
X:135741378 CD40LG C>G	X	135741378	135741378	C	G	CD40LG	c.590C>G	NM_000074.3	NP_000065.1:p.(Ser197Cys)	NC_000023.10:g.135741378C>G	VUS	1 lab	a06de326b9
16:3142568 ZSCAN10 C>G	16	3142568	3142568	C	G	ZSCAN10	c.371G>C	NM_032805.3	NP_116194.2:p.(Arg124Pro)	NC_000016.9:g.3142568C>G	VUS	1 lab	a070673029
4:980902 IDUA G>GCGGGCGCTC	4	980902	980904	G	GCGGGCGCTC	IDUA	c.31_32insGGGCGCTCC	NM_000203.5	NP_000194.2:p.(Leu10_Leu11insArgAlaLeu)	NC_000004.11:g.980903_980904insGGGCGCTCC	VUS	1 lab	a073fee7f6
11:73688930 UCP2 C>T	11	73688930	73688930	C	T	UCP2	c.337+1G>A	NM_003355.3	NP_003346.2:p.?	NC_000011.9:g.73688930C>T	VUS	1 lab	a1ff064f24
12:49442561 KMT2D CAG>C	12	49442561	49442567	CAG	C	KMT2D	c.4021-11_4021-10del	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49442566_49442567del	(Likely) benign	1 lab	a0742db1b3
X:140996239 MAGEC1 G>A	X	140996239	140996239	G	A	MAGEC1	c.3049G>A	NM_005462.5	NP_005453.2:p.(Glu1017Lys)	NC_000023.10:g.140996239G>A	(Likely) benign	1 lab	a076b35a29
19:38843076 CATSPERG AGT>A	19	38843076	38843081	AGT	A	CATSPERG	c.997+8_997+9del	NM_021185.5	NP_067008.3:p.?	NC_000019.9:g.38843080_38843081del	(Likely) benign	1 lab	a0797a2cfb
15:90212763 PLIN1 C>T	15	90212763	90212763	C	T	PLIN1	c.739G>A	NM_002666.5	NP_002657.3:p.(Val247Met)	NC_000015.9:g.90212763C>T	(Likely) benign	1 lab	a07a12aa24
6:38941528 DNAH8 A>C	6	38941528	38941528	A	C	DNAH8	c.12617A>C	NM_001206927.2	NP_001193856.1:p.(Asp4206Ala)	NC_000006.11:g.38941528A>C	VUS	1 lab	a07a5e3caa
15:86284313 AKAP13 C>G	15	86284313	86284313	C	G	AKAP13	c.7645C>G	NM_007200.5	NP_009131.2:p.(Gln2549Glu)	NC_000015.9:g.86284313C>G	VUS	1 lab	a07b7584ec
5:140201784 PCDHA1 TTA>T	5	140201784	140201786	TTA	T	PCDHA1	c.2394+33516_2394+33517del	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140201785_140201786del	VUS	1 lab	a07bd8700b
16:3820939 CREBBP G>T	16	3820939	3820939	G	T	CREBBP	c.2512C>A	NM_004380.3	NP_004371.2:p.(Pro838Thr)	NC_000016.9:g.3820939G>T	VUS	1 lab	a07c43e204
1:114377581 PTPN22 AG>A	1	114377581	114377587	AG	A	PTPN22	c.1844del	NM_015967.8	NP_057051.4:p.(Pro615LeufsTer32)	NC_000001.10:g.114377587del	VUS	1 lab	a07c50bb1c
X:100748435 ARMCX4 G>T	X	100748435	100748435	G	T	ARMCX4	c.4859G>T	NM_001256155.3	NP_001243084.2:p.(Gly1620Val)	NC_000023.10:g.100748435G>T	(Likely) benign	1 lab	a07d0f0a6f
11:6644131 DCHS1 C>T	11	6644131	6644131	C	T	DCHS1	c.8776G>A	NM_003737.4	NP_003728.1:p.(Ala2926Thr)	NC_000011.9:g.6644131C>T	VUS	1 lab	a07e626d32
5:37051861 NIPBL AT>A	5	37051861	37051872	AT	A	NIPBL	c.6955-9del	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37051872del	(Likely) benign	1 lab	a080d0a99d
2:121732690 GLI2 GC>G	2	121732690	121732691	GC	G	GLI2	c.1317+6del	NM_001374353.1	NP_001361282.1:p.?	NC_000002.11:g.121732691del	(Likely) benign	1 lab	a083843b84
1:145518169 PEX11B C>G	1	145518169	145518169	C	G	PEX11B	c.271C>G	NM_003846.3	NP_003837.1:p.(Leu91Val)	NC_000001.10:g.145518169C>G	VUS	1 lab	a08408c48c
15:100821558 ADAMTS17 C>T	15	100821558	100821558	C	T	ADAMTS17	c.665G>A	NM_139057.4	NP_620688.2:p.(Arg222Gln)	NC_000015.9:g.100821558C>T	VUS	1 lab	a085961f15
X:47426765 ARAF T>C	X	47426765	47426765	T	C	ARAF	c.1010T>C	NM_001654.5	NP_001645.1:p.(Val337Ala)	NC_000023.10:g.47426765T>C	VUS	1 lab	a0c662bbef
9:139405642 NOTCH1 T>C	9	139405642	139405642	T	C	NOTCH1	c.2549A>G	NM_017617.5	NP_060087.3:p.(Tyr850Cys)	NC_000009.11:g.139405642T>C	VUS	1 lab	a0863594fa
16:72050970 DHODH G>A	16	72050970	72050970	G	A	DHODH	c.482G>A	NM_001361.5	NP_001352.2:p.(Arg161Gln)	NC_000016.9:g.72050970G>A	(Likely) benign	1 lab	a08658232a
15:64454314 PPIB G>A	15	64454314	64454314	G	A	PPIB	c.175C>T	NM_000942.5	NP_000933.1:p.(Arg59Trp)	NC_000015.9:g.64454314G>A	VUS	1 lab	a088fe6f3a
13:77764379 MYCBP2 C>T	13	77764379	77764379	C	T	MYCBP2	c.4154+8G>A	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77764379C>T	(Likely) benign	1 lab	a0892740e5
17:70119120 SOX9 C>T	17	70119120	70119120	C	T	SOX9	c.685+7C>T	NM_000346.4	NP_000337.1:p.?	NC_000017.10:g.70119120C>T	(Likely) benign	1 lab	a089527de1
9:107599320 ABCA1 C>T	9	107599320	107599320	C	T	ABCA1	c.1252G>A	NM_005502.4	NP_005493.2:p.(Glu418Lys)	NC_000009.11:g.107599320C>T	VUS	1 lab	a08970f223
X:57936131 ZXDA G>C	X	57936131	57936131	G	C	ZXDA	c.724C>G	NM_007156.5	NP_009087.1:p.(Gln242Glu)	NC_000023.10:g.57936131G>C	(Likely) benign	1 lab	a089b73a25
13:32913770 BRCA2 T>G	13	32913770	32913770	T	G	BRCA2	c.5278T>G	NM_000059.4	NP_000050.3:p.(Ser1760Ala)	NC_000013.10:g.32913770T>G	VUS	1 lab	a08a208591
10:134691453 CFAP46 CCTT>C	10	134691453	134691458	CCTT	C	CFAP46	c.4141_4143del	NM_001200049.3	NP_001186978.2:p.(Lys1381del)	NC_000010.10:g.134691456_134691458del	VUS	1 lab	a08b00844e
14:24731015 TGM1 C>T	14	24731015	24731015	C	T	TGM1	c.394G>A	NM_000359.3	NP_000350.1:p.(Asp132Asn)	NC_000014.8:g.24731015C>T	(Likely) benign	1 lab	a08be06bd6
10:72358837 PRF1 T>C	10	72358837	72358837	T	C	PRF1	c.640A>G	NM_001083116.1	NP_001076585.1:p.(Arg214Gly)	NC_000010.10:g.72358837T>C	(Likely) benign	1 lab	28dcee111a
11:118367007 KMT2A G>T	11	118367007	118367007	G	T	KMT2A	c.5589G>T	NM_001197104.2	NP_001184033.1:p.(Glu1863Asp)	NC_000011.9:g.118367007G>T	VUS	1 lab	a08e0069db
2:179436049 TTN C>T	2	179436049	179436049	C	T	TTN	c.74810G>A	NM_001267550.2	NP_001254479.2:p.(Gly24937Glu)	NC_000002.11:g.179436049C>T	VUS	1 lab	a08ef89b53
15:42680058 CAPN3 T>C	15	42680058	42680058	T	C	CAPN3	c.606T>C	NM_000070.3	NP_000061.1:p.(Ser202=)	NC_000015.9:g.42680058T>C	(Likely) benign	1 lab	a08fd808ff
20:62320931 RTEL1 T>C	20	62320931	62320931	T	C	RTEL1	c.1955T>C	NM_001283009.2	NP_001269938.1:p.(Met652Thr)	NC_000020.10:g.62320931T>C	VUS	1 lab	27575cc8cf
3:133672566 SLCO2A1 C>T	3	133672566	133672566	C	T	SLCO2A1	c.665G>A	NM_005630.3	NP_005621.2:p.(Gly222Glu)	NC_000003.11:g.133672566C>T	VUS	1 lab	a092715193
18:58038585 MC4R T>C	18	58038585	58038585	T	C	MC4R	c.998A>G	NM_005912.3	NP_005903.2:p.(Ter333=)	NC_000018.9:g.58038585T>C	VUS	1 lab	a092c0cfbe
13:39338463 FREM2 G>T	13	39338463	39338463	G	T	FREM2	c.5286G>T	NM_207361.6	NP_997244.4:p.(Gln1762His)	NC_000013.10:g.39338463G>T	VUS	1 lab	a092cb8f67
3:196018226 DYNLT2B A>C	3	196018226	196018226	A	C	DYNLT2B	c.401T>G	NM_152773.5	NP_689986.2:p.(Val134Gly)	NC_000003.11:g.196018226A>C	VUS	1 lab	a095a73db8
2:152499752 NEB C>T	2	152499752	152499752	C	T	NEB	c.8072G>A	NM_001164508.2	NP_001157980.2:p.(Arg2691His)	NC_000002.11:g.152499752C>T	VUS	1 lab	a095c892c6
19:7120730 INSR G>A	19	7120730	7120730	G	A	INSR	c.3560C>T	NM_000208.4	NP_000199.2:p.(Thr1187Met)	NC_000019.9:g.7120730G>A	VUS	1 lab	a097709709
16:88870424 CDT1 C>T	16	88870424	88870424	C	T	CDT1	c.185C>T	NM_030928.4	NP_112190.2:p.(Ala62Val)	NC_000016.9:g.88870424C>T	(Likely) benign	1 lab	a0989db5e0
10:117026282 ATRNL1 A>G	10	117026282	117026282	A	G	ATRNL1	c.1781A>G	NM_207303.4	NP_997186.1:p.(Tyr594Cys)	NC_000010.10:g.117026282A>G	VUS	1 lab	a098bbe10e
10:81067180 ZMIZ1 A>G	10	81067180	81067180	A	G	ZMIZ1	c.2687A>G	NM_020338.4	NP_065071.1:p.(His896Arg)	NC_000010.10:g.81067180A>G	(Likely) benign	1 lab	a098d95f63
15:62207924 VPS13C G>A	15	62207924	62207924	G	A	VPS13C	c.8353C>T	NM_020821.3	NP_065872.1:p.(Arg2785Cys)	NC_000015.9:g.62207924G>A	VUS	1 lab	a09999f334
9:98221950 PTCH1 T>C	9	98221950	98221950	T	C	PTCH1	c.2819A>G	NM_000264.5	NP_000255.2:p.(Asn940Ser)	NC_000009.11:g.98221950T>C	(Likely) benign	1 lab	a099c534d6
11:47360209 MYBPC3 G>A	11	47360209	47360209	G	A	MYBPC3	c.2170C>T	NM_000256.3	NP_000247.2:p.(Arg724Trp)	NC_000011.9:g.47360209G>A	VUS	1 lab	a099cc8615
X:153296630 MECP2 G>C	X	153296630	153296630	G	C	MECP2	c.685C>G	NM_001110792.2	NP_001104262.1:p.(Pro229Ala)	NC_000023.10:g.153296630G>C	VUS	1 lab	a09a9ff8be
5:42719463 GHR C>CAACTCAATGCGACTGCCTTGCCCTTGCCTGACA	5	42719463	42719466	C	CAACTCAATGCGACTGCCTTGCCCTTGCCTGACA	GHR	c.1856_1857insCTCAATGCGACTGCCTTGCCCTTGCCTGACAAA	NM_000163.5	NP_000154.1:p.(Asp618_Lys619insAsnSerMetArgLeuProCysProCysLeuThr)	NC_000005.9:g.42719465_42719466insCTCAATGCGACTGCCTTGCCCTTGCCTGACAAA	VUS	1 lab	a09b964c2d
18:19762755 GATA6 A>C	18	19762755	19762755	A	C	GATA6	c.1466A>C	NM_005257.6	NP_005248.2:p.(Gln489Pro)	NC_000018.9:g.19762755A>C	VUS	1 lab	a09d42cb6a
9:6605181 GLDC C>T	9	6605181	6605181	C	T	GLDC	c.811G>A	NM_000170.2	NP_000161.2:p.(Gly271Arg)	NC_000009.11:g.6605181C>T	(Likely) pathogenic	1 lab	28df4c2dec
1:214794059 CENPF C>A	1	214794059	214794059	C	A	CENPF	c.635C>A	NM_016343.4	NP_057427.3:p.(Ala212Asp)	NC_000001.10:g.214794059C>A	VUS	1 lab	a09e78e316
11:2185568 TH C>A	11	2185568	2185568	C	A	TH	c.1389G>T	NM_000360.4	NP_000351.2:p.(Thr463=)	NC_000011.9:g.2185568C>A	VUS	1 lab	a0a0d3c902
11:108141955 ATM CT>C	11	108141955	108141970	CT	C	ATM	c.2922-8del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141970del	(Likely) benign	1 lab	a0a17b9285
1:103488447 COL11A1 C>T	1	103488447	103488447	C	T	COL11A1	c.1096G>A	NM_001854.4	NP_001845.3:p.(Asp366Asn)	NC_000001.10:g.103488447C>T	VUS	1 lab	a0a1f650e9
11:57070069 TNKS1BP1 C>T	11	57070069	57070069	C	T	TNKS1BP1	c.4547G>A	NM_033396.3	NP_203754.2:p.(Ser1516Asn)	NC_000011.9:g.57070069C>T	(Likely) benign	1 lab	a0a207558e
3:48683674 CELSR3 C>T	3	48683674	48683674	C	T	CELSR3	c.7312G>A	NM_001407.3	NP_001398.2:p.(Val2438Ile)	NC_000003.11:g.48683674C>T	VUS	1 lab	a0a23d0e62
11:76867797 MYO7A C>G	11	76867797	76867797	C	G	MYO7A	c.562C>G	NM_000260.4	NP_000251.3:p.(Gln188Glu)	NC_000011.9:g.76867797C>G	VUS	1 lab	a0a34dde17
20:44579206 ZNF335 C>T	20	44579206	44579206	C	T	ZNF335	c.3218G>A	NM_022095.4	NP_071378.1:p.(Arg1073Gln)	NC_000020.10:g.44579206C>T	VUS	1 lab	a0a3604f01
10:75577316 CAMK2G T>G	10	75577316	75577316	T	G	CAMK2G	c.1364-4A>C	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75577316T>G	(Likely) benign	1 lab	a0a4d41348
4:85781630 WDFY3 G>T	4	85781630	85781630	G	T	WDFY3	c.115C>A	NM_014991.6	NP_055806.2:p.(Pro39Thr)	NC_000004.11:g.85781630G>T	(Likely) benign	1 lab	a0a5145c5e
17:29579952 NF1 G>A	17	29579952	29579952	G	A	NF1	c.4111-4G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29579952G>A	VUS	1 lab	a0a6957d65
2:179576761 TTN G>T	2	179576761	179576761	G	T	TTN	c.27796C>A	NM_001267550.2	NP_001254479.2:p.(Gln9266Lys)	NC_000002.11:g.179576761G>T	VUS	1 lab	a0a7708406
1:49193564 BEND5 C>A	1	49193564	49193564	C	A	BEND5	c.1260G>T	NM_024603.4	NP_078879.2:p.(Leu420Phe)	NC_000001.10:g.49193564C>A	VUS	1 lab	a0a841d995
18:47352955 MYO5B T>G	18	47352955	47352955	T	G	MYO5B	c.5433A>C	NM_001080467.3	NP_001073936.1:p.(Leu1811=)	NC_000018.9:g.47352955T>G	(Likely) benign	1 lab	a0a885388c
7:114284805 FOXP2 G>T	7	114284805	114284805	G	T	FOXP2	c.1055G>T	NM_014491.4	NP_055306.1:p.(Gly352Val)	NC_000007.13:g.114284805G>T	(Likely) pathogenic	1 lab	a0a8c5ffe8
16:71019149 HYDIN G>T	16	71019149	71019149	G	T	HYDIN	c.4271C>A	NM_001270974.2	NP_001257903.1:p.(Thr1424Asn)	NC_000016.9:g.71019149G>T	(Likely) benign	1 lab	a0a98b4f53
4:6303168 WFS1 T>G	4	6303168	6303168	T	G	WFS1	c.1646T>G	NM_006005.3	NP_005996.2:p.(Leu549Arg)	NC_000004.11:g.6303168T>G	(Likely) benign	1 lab	a0ada8e9df
14:33293390 AKAP6 A>T	14	33293390	33293390	A	T	AKAP6	c.6371A>T	NM_004274.5	NP_004265.3:p.(Glu2124Val)	NC_000014.8:g.33293390A>T	VUS	1 lab	a0af853f63
22:41513266 EP300 A>G	22	41513266	41513266	A	G	EP300	c.170A>G	NM_001429.4	NP_001420.2:p.(Asn57Ser)	NC_000022.10:g.41513266A>G	VUS	1 lab	a0b00179a5
1:115251212 NRAS T>C	1	115251212	115251212	T	C	NRAS	c.514A>G	NM_002524.5	NP_002515.1:p.(Asn172Asp)	NC_000001.10:g.115251212T>C	(Likely) benign	1 lab	a0b0d909e9
1:27023940 ARID1A C>T	1	27023940	27023940	C	T	ARID1A	c.1046C>T	NM_006015.6	NP_006006.3:p.(Ala349Val)	NC_000001.10:g.27023940C>T	(Likely) benign	1 lab	a0b1133bb3
8:97156472 GDF6 T>TAGAG	8	97156472	97156519	T	TAGAG	GDF6	c.*315_*318dup	NM_001001557.4	NP_001001557.1:p.?	NC_000008.10:g.97156516_97156519dup	VUS	1 lab	a0b15a84c4
3:16242130 GALNT15 A>G	3	16242130	16242130	A	G	GALNT15	c.711A>G	NM_054110.5	NP_473451.3:p.(Gln237=)	NC_000003.11:g.16242130A>G	VUS	1 lab	a0b287c147
19:11169504 SMARCA4 T>C	19	11169504	11169504	T	C	SMARCA4	c.4574T>C	NM_003072.5	NP_003063.2:p.(Leu1525Pro)	NC_000019.9:g.11169504T>C	VUS	1 lab	a0b6be2802
3:53126557 RFT1 A>G	3	53126557	53126557	A	G	RFT1	c.1286T>C	NM_052859.4	NP_443091.1:p.(Val429Ala)	NC_000003.11:g.53126557A>G	VUS	1 lab	a0b7460996
8:68116411 ARFGEF1 A>C	8	68116411	68116411	A	C	ARFGEF1	c.4959+504T>G	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68116411A>C	(Likely) benign	1 lab	a0b7817820
11:117864846 IL10RA A>G	11	117864846	117864846	A	G	IL10RA	c.670A>G	NM_001558.3	NP_001549.2:p.(Ile224Val)	NC_000011.9:g.117864846A>G	(Likely) benign	1 lab	28e36afdba
3:5229499 EDEM1 G>C	3	5229499	5229499	G	C	EDEM1	c.9G>C	NM_014674.3	NP_055489.1:p.(Trp3Cys)	NC_000003.11:g.5229499G>C	(Likely) benign	1 lab	a0bb43f6fc
X:52679429 SSX7 A>G	X	52679429	52679429	A	G	SSX7	c.304T>C	NM_173358.2	NP_775494.1:p.(Cys102Arg)	NC_000023.10:g.52679429A>G	(Likely) benign	1 lab	a0be985d68
20:33148734 PIGU T>C	20	33148734	33148734	T	C	PIGU	c.1244A>G	NM_080476.5	NP_536724.1:p.(Tyr415Cys)	NC_000020.10:g.33148734T>C	VUS	1 lab	a0bea3fe3b
19:10445278 ICAM3 A>C	19	10445278	10445278	A	C	ICAM3	c.1118T>G	NM_002162.5	NP_002153.2:p.(Phe373Cys)	NC_000019.9:g.10445278A>C	VUS	1 lab	a0bfa7911d
15:99454555 IGF1R G>A	15	99454555	99454555	G	A	IGF1R	c.1474G>A	NM_000875.5	NP_000866.1:p.(Val492Ile)	NC_000015.9:g.99454555G>A	(Likely) benign	1 lab	a0bfc7aff3
11:46388108 DGKZ C>G	11	46388108	46388108	C	G	DGKZ	c.162-733C>G	NM_001199267.2	NP_001186196.1:p.?	NC_000011.9:g.46388108C>G	(Likely) benign	1 lab	a0c185bf4d
7:6042155 PMS2 T>C	7	6042155	6042155	T	C	PMS2	c.466A>G	NM_000535.7	NP_000526.2:p.(Thr156Ala)	NC_000007.13:g.6042155T>C	VUS	1 lab	a0c2630981
19:2934450 ZNF77 T>A	19	2934450	2934450	T	A	ZNF77	c.675A>T	NM_021217.3	NP_067040.1:p.(Ser225=)	NC_000019.9:g.2934450T>A	VUS	1 lab	a0c2c9157d
5:112176911 APC C>G	5	112176911	112176911	C	G	APC	c.5620C>G	NM_000038.6	NP_000029.2:p.(Leu1874Val)	NC_000005.9:g.112176911C>G	(Likely) benign	1 lab	a0c323dbc8
11:45971756 PHF21A C>T	11	45971756	45971756	C	T	PHF21A	c.1147+1G>A	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45971756C>T	VUS	1 lab	a0c348015e
2:179495058 TTN G>A	2	179495058	179495058	G	A	TTN	c.44191C>T	NM_001267550.2	NP_001254479.2:p.(Leu14731Phe)	NC_000002.11:g.179495058G>A	VUS	1 lab	a0c42be0b3
4:148457025 EDNRA G>T	4	148457025	148457025	G	T	EDNRA	c.748-4G>T	NM_001957.4	NP_001948.1:p.?	NC_000004.11:g.148457025G>T	(Likely) benign	1 lab	a0c5e5fa66
14:102460669 DYNC1H1 A>T	14	102460669	102460669	A	T	DYNC1H1	c.3156+8A>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102460669A>T	(Likely) benign	1 lab	a0c635997e
6:45480125 RUNX2 T>A	6	45480125	45480125	T	A	RUNX2	c.1002T>A	NM_001024630.4	NP_001019801.3:p.(Asp334Glu)	NC_000006.11:g.45480125T>A	VUS	1 lab	a0c6509319
7:47987985 PKD1L1 A>C	7	47987985	47987985	A	C	PKD1L1	c.44+9T>G	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47987985A>C	(Likely) benign	1 lab	a0c738ff47
7:21882195 DNAH11 T>C	7	21882195	21882195	T	C	DNAH11	c.10725T>C	NM_001277115.2	NP_001264044.1:p.(Phe3575=)	NC_000007.13:g.21882195T>C	(Likely) benign	1 lab	a0c7432ab7
19:5135542 KDM4B T>A	19	5135542	5135542	T	A	KDM4B	c.2278T>A	NM_015015.3	NP_055830.1:p.(Cys760Ser)	NC_000019.9:g.5135542T>A	VUS	1 lab	a0c773e4f1
2:23916233 KLHL29 G>A	2	23916233	23916233	G	A	KLHL29	c.1377G>A	NM_052920.2	NP_443152.1:p.(Ala459=)	NC_000002.11:g.23916233G>A	VUS	1 lab	a0c845bb9b
10:103531278 FGF8 C>T	10	103531278	103531278	C	T	FGF8	c.386G>A	NM_033163.5	NP_149353.1:p.(Arg129Gln)	NC_000010.10:g.103531278C>T	(Likely) benign	1 lab	a0c9da4313
6:142762056 ADGRG6 T>C	6	142762056	142762056	T	C	ADGRG6	c.3575-2418T>C	NM_198569.3	NP_940971.2:p.?	NC_000006.11:g.142762056T>C	VUS	1 lab	a0cc8d704c
16:88786649 PIEZO1 C>T	16	88786649	88786649	C	T	PIEZO1	c.5992G>A	NM_001142864.4	NP_001136336.2:p.(Asp1998Asn)	NC_000016.9:g.88786649C>T	VUS	1 lab	a0ccc5a0df
12:49425599 KMT2D A>G	12	49425599	49425599	A	G	KMT2D	c.12889T>C	NM_003482.4	NP_003473.3:p.(Ser4297Pro)	NC_000012.11:g.49425599A>G	(Likely) benign	1 lab	a0ce978695
16:570233 RAB11FIP3 G>A	16	570233	570233	G	A	RAB11FIP3	c.1972G>A	NM_014700.4	NP_055515.1:p.(Ala658Thr)	NC_000016.9:g.570233G>A	VUS	1 lab	a0cf7e1b67
3:100170780 LNP1 G>A	3	100170780	100170780	G	A	LNP1	c.374G>A	NM_001085451.2	NP_001078920.1:p.(Arg125His)	NC_000003.11:g.100170780G>A	(Likely) benign	1 lab	a0cfcd03dd
15:41106277 ZFYVE19 A>C	15	41106277	41106277	A	C	ZFYVE19	c.1337+9A>C	NM_001077268.2	NP_001070736.1:p.?	NC_000015.9:g.41106277A>C	(Likely) benign	1 lab	a0d08c71aa
16:2159245 PKD1 G>A	16	2159245	2159245	G	A	PKD1	c.5923C>T	NM_001009944.3	NP_001009944.3:p.(Gln1975Ter)	NC_000016.9:g.2159245G>A	(Likely) pathogenic	1 lab	a0d50ca94c
7:107580686 LAMB1 G>A	7	107580686	107580686	G	A	LAMB1	c.3509C>T	NM_002291.3	NP_002282.2:p.(Ser1170Leu)	NC_000007.13:g.107580686G>A	VUS	1 lab	a0d53a1c9b
11:99690450 CNTN5 T>A	11	99690450	99690450	T	A	CNTN5	c.231T>A	NM_014361.4	NP_055176.1:p.(Tyr77Ter)	NC_000011.9:g.99690450T>A	VUS	1 lab	a0d60f2d41
2:69207195 GKN1 G>A	2	69207195	69207195	G	A	GKN1	c.463+3G>A	NM_019617.4	NP_062563.4:p.?	NC_000002.11:g.69207195G>A	(Likely) benign	1 lab	a0d6e01222
2:152350770 NEB A>G	2	152350770	152350770	A	G	NEB	c.24487-3T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152350770A>G	VUS	1 lab	a0d7013834
1:3673345 CCDC27 G>A	1	3673345	3673345	G	A	CCDC27	c.602G>A	NM_152492.3	NP_689705.2:p.(Arg201Gln)	NC_000001.10:g.3673345G>A	(Likely) benign	1 lab	a0d7fa80da
14:23855229 MYH6 G>A	14	23855229	23855229	G	A	MYH6	c.5071C>T	NM_002471.4	NP_002462.2:p.(Arg1691Cys)	NC_000014.8:g.23855229G>A	VUS	1 lab	a0d89d382d
11:6587805 DNHD1 TGTTACCCCAA>T	11	6587805	6587817	TGTTACCCCAA	T	DNHD1	c.11207-9_11207del	NM_144666.3	NP_653267.2:p.?	NC_000011.9:g.6587808_6587817del	(Likely) pathogenic	1 lab	a0d9031644
6:44121559 TMEM63B T>C	6	44121559	44121559	T	C	TMEM63B	c.2089T>C	NM_018426.3	NP_060896.1:p.(Phe697Leu)	NC_000006.11:g.44121559T>C	VUS	1 lab	a0d9ea3378
22:26890125 SRRD C>T	22	26890125	26890125	C	T	SRRD	c.*2487C>T	NM_001013694.3	NP_001013716.2:p.?	NC_000022.10:g.26890125C>T	VUS	1 lab	a0dce55b5a
5:154296582 GEMIN5 C>T	5	154296582	154296582	C	T	GEMIN5	c.1831G>A	NM_015465.5	NP_056280.2:p.(Val611Met)	NC_000005.9:g.154296582C>T	VUS	1 lab	a0dd62de7a
15:99442723 IGF1R C>G	15	99442723	99442723	C	G	IGF1R	c.1120C>G	NM_000875.5	NP_000866.1:p.(Leu374Val)	NC_000015.9:g.99442723C>G	VUS	1 lab	a0e136cdd5
4:151504774 LRBA A>G	4	151504774	151504774	A	G	LRBA	c.6330+4426T>C	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151504774A>G	(Likely) benign	1 lab	a0e236644f
5:52356865 ITGA2 C>T	5	52356865	52356865	C	T	ITGA2	c.1447C>T	NM_002203.4	NP_002194.2:p.(Arg483Ter)	NC_000005.9:g.52356865C>T	VUS	1 lab	a0e3b72624
9:111625629 ACTL7A C>G	9	111625629	111625629	C	G	ACTL7A	c.1027C>G	NM_006687.4	NP_006678.1:p.(Leu343Val)	NC_000009.11:g.111625629C>G	(Likely) benign	1 lab	a0e491dffe
5:125882062 ALDH7A1 C>G	5	125882062	125882062	C	G	ALDH7A1	c.1519G>C	NM_001182.5	NP_001173.2:p.(Glu507Gln)	NC_000005.9:g.125882062C>G	VUS	1 lab	a0e573ec3b
10:96058235 PLCE1 A>G	10	96058235	96058235	A	G	PLCE1	c.5267A>G	NM_016341.4	NP_057425.3:p.(His1756Arg)	NC_000010.10:g.96058235A>G	VUS	1 lab	a0e6b95e39
17:62022845 SCN4A C>T	17	62022845	62022845	C	T	SCN4A	c.3595G>A	NM_000334.4	NP_000325.4:p.(Asp1199Asn)	NC_000017.10:g.62022845C>T	VUS	1 lab	a0e6eb119e
7:150707251 NOS3 C>T	7	150707251	150707251	C	T	NOS3	c.2561C>T	NM_000603.5	NP_000594.2:p.(Thr854Met)	NC_000007.13:g.150707251C>T	VUS	1 lab	a0e786254d
9:100616768 FOXE1 C>G	9	100616768	100616768	C	G	FOXE1	c.572C>G	NM_004473.4	NP_004464.2:p.(Pro191Arg)	NC_000009.11:g.100616768C>G	VUS	1 lab	a0e7d75ae9
12:133160180 FBRSL1 T>A	12	133160180	133160180	T	A	FBRSL1	c.2825T>A	NM_001367871.1	NP_001354800.1:p.(Leu942His)	NC_000012.11:g.133160180T>A	(Likely) benign	1 lab	a0e95081d1
10:5442807 TUBAL3 C>T	10	5442807	5442807	C	T	TUBAL3	c.247G>A	NM_024803.3	NP_079079.1:p.(Asp83Asn)	NC_000010.10:g.5442807C>T	VUS	1 lab	a0eaf62077
19:622316 POLRMT G>A	19	622316	622316	G	A	POLRMT	c.1684C>T	NM_005035.4	NP_005026.3:p.(Leu562=)	NC_000019.9:g.622316G>A	(Likely) benign	1 lab	a0ebab1dab
8:104664444 RIMS2 A>G	8	104664444	104664444	A	G	RIMS2	c.188A>G	NM_001348484.3	NP_001335413.1:p.(Glu63Gly)	NC_000008.10:g.104664444A>G	VUS	1 lab	a0ecc93087
16:360035 AXIN1 G>T	16	360035	360035	G	T	AXIN1	c.1054C>A	NM_003502.4	NP_003493.1:p.(His352Asn)	NC_000016.9:g.360035G>T	VUS	1 lab	a0ef4087a7
19:42874901 MEGF8 G>A	19	42874901	42874901	G	A	MEGF8	c.7054G>A	NM_001271938.2	NP_001258867.1:p.(Val2352Met)	NC_000019.9:g.42874901G>A	(Likely) benign	1 lab	a0efb76c40
6:42942734 PEX6 A>C	6	42942734	42942734	A	C	PEX6	c.925T>G	NM_000287.4	NP_000278.3:p.(Cys309Gly)	NC_000006.11:g.42942734A>C	(Likely) benign	1 lab	a0f07aeec4
5:42711348 GHR T>C	5	42711348	42711348	T	C	GHR	c.658T>C	NM_000163.5	NP_000154.1:p.(Leu220=)	NC_000005.9:g.42711348T>C	(Likely) benign	1 lab	a0f146eb2c
1:22188295 HSPG2 C>T	1	22188295	22188295	C	T	HSPG2	c.4910G>A	NM_005529.7	NP_005520.4:p.(Arg1637His)	NC_000001.10:g.22188295C>T	VUS	1 lab	a0f1e62b97
12:27802945 PPFIBP1 G>C	12	27802945	27802945	G	C	PPFIBP1	c.474G>C	NM_003622.4	NP_003613.4:p.(Glu158Asp)	NC_000012.11:g.27802945G>C	VUS	1 lab	a0f4067fe1
5:178419015 GRM6 G>A	5	178419015	178419015	G	A	GRM6	c.574C>T	NM_000843.4	NP_000834.2:p.(Arg192Trp)	NC_000005.9:g.178419015G>A	VUS	1 lab	a0f459ccb3
12:53700866 MYG1 G>A	12	53700866	53700866	G	A	MYG1	c.1064G>A	NM_021640.4	NP_067653.4:p.(Arg355Gln)	NC_000012.11:g.53700866G>A	VUS	1 lab	a0f4ab22dd
X:48762057 SLC35A2 G>A	X	48762057	48762057	G	A	SLC35A2	c.1129C>T	NM_005660.3	NP_005651.1:p.(Arg377Cys)	NC_000023.10:g.48762057G>A	(Likely) benign	1 lab	a0f6e4961c
22:50965597 TYMP C>T	22	50965597	50965597	C	T	TYMP	c.762G>A	NM_001953.5	NP_001944.1:p.(Thr254=)	NC_000022.10:g.50965597C>T	(Likely) benign	1 lab	a0fa93fb26
X:47919341 ZNF630 G>A	X	47919341	47919341	G	A	ZNF630	c.490C>T	NM_001282201.2	NP_001269130.1:p.(Arg164Trp)	NC_000023.10:g.47919341G>A	VUS	1 lab	a0fb9ecb08
11:118373571 KMT2A T>A	11	118373571	118373571	T	A	KMT2A	c.6964T>A	NM_001197104.2	NP_001184033.1:p.(Ser2322Thr)	NC_000011.9:g.118373571T>A	(Likely) benign	1 lab	a0fbadcb9c
1:145456645 POLR3GL T>C	1	145456645	145456645	T	C	POLR3GL	c.649A>G	NM_032305.3	NP_115681.1:p.(Ile217Val)	NC_000001.10:g.145456645T>C	VUS	1 lab	a0fd78337e
10:73767658 CHST3 C>G	10	73767658	73767658	C	G	CHST3	c.869C>G	NM_004273.5	NP_004264.2:p.(Pro290Arg)	NC_000010.10:g.73767658C>G	VUS	1 lab	a0ffac9981
20:57415581 GNAS-AS1 GC>G	20	57415581	57415583	GC	G	GNAS-AS1	n.672+1410del	NR_185847.1		NC_000020.10:g.57415583del	VUS	1 lab	a1007e1a8e
1:1448077 ATAD3A A>T	1	1448077	1448077	A	T	ATAD3A	c.205+224A>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1448077A>T	VUS	1 lab	a101525e02
19:42557803 GRIK5 T>C	19	42557803	42557803	T	C	GRIK5	c.1220A>G	NM_002088.5	NP_002079.3:p.(Asn407Ser)	NC_000019.9:g.42557803T>C	(Likely) benign	1 lab	a10263eafd
20:49510277 ADNP A>C	20	49510277	49510277	A	C	ADNP	c.974T>G	NM_001282531.3	NP_001269460.1:p.(Val325Gly)	NC_000020.10:g.49510277A>C	VUS	1 lab	a103c0dda2
8:70744676 SLCO5A1 G>C	8	70744676	70744676	G	C	SLCO5A1	c.233C>G	NM_030958.3	NP_112220.2:p.(Pro78Arg)	NC_000008.10:g.70744676G>C	(Likely) benign	1 lab	a10493be4f
14:100706038 YY1 G>A	14	100706038	100706038	G	A	YY1	c.457G>A	NM_003403.5	NP_003394.1:p.(Val153Met)	NC_000014.8:g.100706038G>A	(Likely) benign	1 lab	a104a4aef8
19:13322988 CACNA1A T>C	19	13322988	13322988	T	C	CACNA1A	c.6232A>G	NM_001127222.2	NP_001120694.1:p.(Ser2078Gly)	NC_000019.9:g.13322988T>C	VUS	1 lab	a10551b8a4
19:17212775 MYO9B C>T	19	17212775	17212775	C	T	MYO9B	c.248C>T	NM_004145.4	NP_004136.2:p.(Ser83Leu)	NC_000019.9:g.17212775C>T	(Likely) benign	1 lab	a1067933ac
19:39056333 RYR1 T>G	19	39056333	39056333	T	G	RYR1	c.13359T>G	NM_000540.2	NP_000531.2:p.(Gly4453=)	NC_000019.9:g.39056333T>G	(Likely) benign	1 lab	28e8256535
14:77745126 POMT2 C>A	14	77745126	77745126	C	A	POMT2	c.1978G>T	NM_013382.7	NP_037514.2:p.(Val660Phe)	NC_000014.8:g.77745126C>A	VUS	1 lab	a109800f74
2:44203337 LRPPRC G>A	2	44203337	44203337	G	A	LRPPRC	c.682C>T	NM_133259.4	NP_573566.2:p.(Leu228Phe)	NC_000002.11:g.44203337G>A	VUS	1 lab	a10a9c7a98
22:23915753 IGLL1 G>C	22	23915753	23915753	G	C	IGLL1	c.342C>G	NM_020070.4	NP_064455.1:p.(Pro114=)	NC_000022.10:g.23915753G>C	VUS	1 lab	a10e5b6f27
10:61956355 ANK3 G>T	10	61956355	61956355	G	T	ANK3	c.1718C>A	NM_020987.5	NP_066267.2:p.(Ala573Glu)	NC_000010.10:g.61956355G>T	VUS	1 lab	a10f9cd85e
14:103396656 AMN G>T	14	103396656	103396656	G	T	AMN	c.1161G>T	NM_030943.4	NP_112205.2:p.(Gly387=)	NC_000014.8:g.103396656G>T	VUS	1 lab	a10faf5412
12:10959416 TAS2R8 C>A	12	10959416	10959416	C	A	TAS2R8	c.164G>T	NM_023918.3	NP_076407.1:p.(Arg55Ile)	NC_000012.11:g.10959416C>A	(Likely) benign	1 lab	a1100f917c
12:21602592 PYROXD1 T>G	12	21602592	21602592	T	G	PYROXD1	c.381T>G	NM_024854.5	NP_079130.2:p.(Tyr127Ter)	NC_000012.11:g.21602592T>G	VUS	1 lab	a1109a1ef1
16:334531 PDIA2 C>T	16	334531	334531	C	T	PDIA2	c.344C>T	NM_006849.4	NP_006840.2:p.(Thr115Met)	NC_000016.9:g.334531C>T	(Likely) benign	1 lab	a2ad12e3bf
1:27105675 ARID1A GGAA>G	1	27105675	27105690	GGAA	G	ARID1A	c.5299_5301del	NM_006015.6	NP_006006.3:p.(Glu1767del)	NC_000001.10:g.27105688_27105690del	(Likely) benign	1 lab	a113b80c88
2:20132058 WDR35 T>A	2	20132058	20132058	T	A	WDR35	c.2809A>T	NM_020779.4	NP_065830.2:p.(Lys937Ter)	NC_000002.11:g.20132058T>A	VUS	1 lab	a1142e29be
7:14025766 ETV1 T>A	7	14025766	14025766	T	A	ETV1	c.36A>T	NM_001163150.2	NP_001156622.1:p.(Pro12=)	NC_000007.13:g.14025766T>A	(Likely) benign	1 lab	276484587c
16:88902182 GALNS C>T	16	88902182	88902182	C	T	GALNS	c.709G>A	NM_000512.5	NP_000503.1:p.(Ala237Thr)	NC_000016.9:g.88902182C>T	VUS	1 lab	a11477b32b
2:179605256 TTN G>C	2	179605256	179605256	G	C	TTN	c.12704C>G	NM_001267550.2	NP_001254479.2:p.(Ser4235Ter)	NC_000002.11:g.179605256G>C	(Likely) pathogenic	1 lab	276a26fa8f
14:23855661 MYH6 G>A	14	23855661	23855661	G	A	MYH6	c.4822C>T	NM_002471.4	NP_002462.2:p.(Arg1608Cys)	NC_000014.8:g.23855661G>A	VUS	1 lab	a117c66d92
19:13443551 CACNA1A A>G	19	13443551	13443551	A	G	CACNA1A	c.1255+132T>C	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13443551A>G	(Likely) benign	1 lab	28f2adb399
X:47003879 NDUFB11 T>C	X	47003879	47003879	T	C	NDUFB11	c.200A>G	NM_001135998.3	NP_001129470.1:p.(Tyr67Cys)	NC_000023.10:g.47003879T>C	VUS	1 lab	a11c382b16
9:95285117 CENPP A>G	9	95285117	95285117	A	G	CENPP	c.565-88479A>G	NM_001012267.3	NP_001012267.1:p.?	NC_000009.11:g.95285117A>G	VUS	1 lab	a11defc437
15:101718850 CHSY1 C>G	15	101718850	101718850	C	G	CHSY1	c.1152G>C	NM_014918.5	NP_055733.2:p.(Leu384Phe)	NC_000015.9:g.101718850C>G	(Likely) benign	1 lab	a11e662d6e
19:1047166 ABCA7 T>A	19	1047166	1047166	T	A	ABCA7	c.1856T>A	NM_019112.4	NP_061985.2:p.(Ile619Asn)	NC_000019.9:g.1047166T>A	(Likely) benign	1 lab	a11efacde8
1:111957201 OVGP1 C>T	1	111957201	111957201	C	T	OVGP1	c.1922G>A	NM_002557.4	NP_002548.3:p.(Arg641His)	NC_000001.10:g.111957201C>T	VUS	1 lab	a12054261c
2:38302302 CYP1B1 A>G	2	38302302	38302302	A	G	CYP1B1	c.230T>C	NM_000104.4	NP_000095.2:p.(Leu77Pro)	NC_000002.11:g.38302302A>G	VUS	1 lab	a120c87687
20:42199704 SGK2 GGT>G	20	42199704	42199742	GGT	G	SGK2	c.510+41_510+42del	NM_170693.3	NP_733794.1:p.?	NC_000020.10:g.42199741_42199742del	VUS	1 lab	a12249891b
3:178785371 ZMAT3 C>G	3	178785371	178785371	C	G	ZMAT3	c.170G>C	NM_022470.4	NP_071915.1:p.(Gly57Ala)	NC_000003.11:g.178785371C>G	(Likely) benign	1 lab	a12289f200
X:101909051 GPRASP1 A>T	X	101909051	101909051	A	T	GPRASP1	c.210A>T	NM_001184727.2	NP_001171656.1:p.(Ala70=)	NC_000023.10:g.101909051A>T	VUS	1 lab	a123191711
19:39016087 RYR1 T>C	19	39016087	39016087	T	C	RYR1	c.10571T>C	NM_000540.3	NP_000531.2:p.(Met3524Thr)	NC_000019.9:g.39016087T>C	VUS	1 lab	a1234b53b7
3:196736573 MELTF C>T	3	196736573	196736573	C	T	MELTF	c.1441G>A	NM_005929.6	NP_005920.2:p.(Gly481Ser)	NC_000003.11:g.196736573C>T	VUS	1 lab	a126848359
12:1023218 RAD52 G>T	12	1023218	1023218	G	T	RAD52	c.1037C>A	NM_134424.4	NP_602296.2:p.(Ser346Ter)	NC_000012.11:g.1023218G>T	(Likely) benign	1 lab	a127ab1a82
11:111959680 SDHD C>T	11	111959680	111959680	C	T	SDHD	c.259C>T	NM_003002.4	NP_002993.1:p.(Pro87Ser)	NC_000011.9:g.111959680C>T	VUS	1 lab	a12827885f
10:88423539 OPN4 G>C	10	88423539	88423539	G	C	OPN4	c.1378G>C	NM_033282.4	NP_150598.1:p.(Glu460Gln)	NC_000010.10:g.88423539G>C	(Likely) benign	1 lab	a12a2d93e9
X:52681976 SSX7 A>G	X	52681976	52681976	A	G	SSX7	c.128T>C	NM_173358.2	NP_775494.1:p.(Leu43Ser)	NC_000023.10:g.52681976A>G	(Likely) benign	1 lab	a12f125a7f
X:153283451 IRAK1 G>A	X	153283451	153283451	G	A	IRAK1	c.909+6C>T	NM_001569.4	NP_001560.2:p.?	NC_000023.10:g.153283451G>A	(Likely) benign	1 lab	a1314cb03a
20:1559023 SIRPB1 CCA>C	20	1559023	1559026	CCA	C	SIRPB1	c.392_393del	NM_006065.5	NP_006056.2:p.(Val131GlyfsTer3)	NC_000020.10:g.1559025_1559026del	VUS	1 lab	a131624038
19:45860547 ERCC2 C>T	19	45860547	45860547	C	T	ERCC2	c.1460G>A	NM_000400.4	NP_000391.1:p.(Arg487Gln)	NC_000019.9:g.45860547C>T	VUS	1 lab	a131bfa858
10:19820233 MALRD1 C>T	10	19820233	19820233	C	T	MALRD1	c.5431C>T	NM_001142308.3	NP_001135780.2:p.(Arg1811Trp)	NC_000010.10:g.19820233C>T	VUS	1 lab	276ba837cd
1:229594003 NUP133 C>T	1	229594003	229594003	C	T	NUP133	c.2885G>A	NM_018230.3	NP_060700.2:p.(Arg962His)	NC_000001.10:g.229594003C>T	(Likely) benign	1 lab	a1331228f0
X:127186076 ACTRT1 G>T	X	127186076	127186076	G	T	ACTRT1	c.110C>A	NM_138289.4	NP_612146.1:p.(Ser37Tyr)	NC_000023.10:g.127186076G>T	VUS	1 lab	a133f5f7df
12:31253563 DDX11 C>T	12	31253563	31253563	C	T	DDX11	c.1876-6C>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31253563C>T	(Likely) benign	1 lab	a135a9add1
10:89473069 PAPSS2 TAAAAA>T	10	89473069	89473091	TAAAAA	T	PAPSS2	c.381+20_381+24del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473087_89473091del	(Likely) benign	1 lab	a136c18802
9:6534775 GLDC G>T	9	6534775	6534775	G	T	GLDC	c.2852C>A	NM_000170.3	NP_000161.2:p.(Ser951Tyr)	NC_000009.11:g.6534775G>T	(Likely) pathogenic	1 lab	a1377f57e0
1:5965370 NPHP4 T>G	1	5965370	5965370	T	G	NPHP4	c.1937A>C	NM_015102.5	NP_055917.1:p.(Gln646Pro)	NC_000001.10:g.5965370T>G	VUS	1 lab	a2f86cc2c3
10:64966589 JMJD1C T>C	10	64966589	64966589	T	C	JMJD1C	c.4840A>G	NM_032776.3	NP_116165.1:p.(Asn1614Asp)	NC_000010.10:g.64966589T>C	(Likely) benign	1 lab	a13ab87cce
6:168910605 SMOC2 T>G	6	168910605	168910605	T	G	SMOC2	c.95T>G	NM_001166412.2	NP_001159884.1:p.(Val32Gly)	NC_000006.11:g.168910605T>G	VUS	1 lab	a13ded592c
16:79633295 MAF C>CA	16	79633295	79633296	C	CA	MAF	c.504_505insT	NM_005360.5	NP_005351.2:p.(Ala169CysfsTer207)	NC_000016.9:g.79633295_79633296insA	VUS	1 lab	a13f4b13cb
17:7605838 WRAP53 G>A	17	7605838	7605838	G	A	WRAP53	c.1132G>A	NM_001143992.2	NP_001137464.1:p.(Asp378Asn)	NC_000017.10:g.7605838G>A	VUS	1 lab	a13f9f1d34
16:70908238 HYDIN C>T	16	70908238	70908238	C	T	HYDIN	c.10918G>A	NM_001270974.2	NP_001257903.1:p.(Glu3640Lys)	NC_000016.9:g.70908238C>T	VUS	1 lab	a13fcd4f80
17:17120419 FLCN G>A	17	17120419	17120419	G	A	FLCN	c.1140C>T	NM_144997.7	NP_659434.2:p.(Asp380=)	NC_000017.10:g.17120419G>A	(Likely) benign	1 lab	a140355212
9:79898257 VPS13A AT>A	9	79898257	79898266	AT	A	VPS13A	c.3119-5del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79898266del	(Likely) benign	1 lab	276d60a808
1:152284673 FLG G>A	1	152284673	152284673	G	A	FLG	c.2689C>T	NM_002016.2	NP_002007.1:p.(Arg897Cys)	NC_000001.10:g.152284673G>A	(Likely) benign	1 lab	a14194e33a
19:17393545 ANKLE1 G>T	19	17393545	17393545	G	T	ANKLE1	c.296G>T	NM_152363.6	NP_689576.6:p.(Gly99Val)	NC_000019.9:g.17393545G>T	VUS	1 lab	a141dfa864
1:201185743 IGFN1 G>A	1	201185743	201185743	G	A	IGFN1	c.9457G>A	NM_001164586.2	NP_001158058.1:p.(Glu3153Lys)	NC_000001.10:g.201185743G>A	(Likely) benign	1 lab	a142821f60
9:93978386 AUH G>C	9	93978386	93978386	G	C	AUH	c.897C>G	NM_001698.3	NP_001689.1:p.(Val299=)	NC_000009.11:g.93978386G>C	(Likely) benign	1 lab	a1440c2d8b
10:33545246 NRP1 T>A	10	33545246	33545246	T	A	NRP1	c.812A>T	NM_003873.7	NP_003864.5:p.(Glu271Val)	NC_000010.10:g.33545246T>A	VUS	1 lab	a146446844
7:21789930 DNAH11 C>A	7	21789930	21789930	C	A	DNAH11	c.8888C>A	NM_001277115.2	NP_001264044.1:p.(Ser2963Tyr)	NC_000007.13:g.21789930C>A	VUS	1 lab	a14826ad34
12:49723670 TROAP G>A	12	49723670	49723670	G	A	TROAP	c.1195G>A	NM_005480.4	NP_005471.3:p.(Glu399Lys)	NC_000012.11:g.49723670G>A	VUS	1 lab	a148a8b263
1:3421858 MEGF6 C>G	1	3421858	3421858	C	G	MEGF6	c.2102G>C	NM_001409.4	NP_001400.3:p.(Cys701Ser)	NC_000001.10:g.3421858C>G	VUS	1 lab	a14a061dd3
2:179753318 CCDC141 G>A	2	179753318	179753318	G	A	CCDC141	c.1343C>T	NM_173648.4	NP_775919.3:p.(Ala448Val)	NC_000002.11:g.179753318G>A	VUS	1 lab	a14a0e7b65
12:80672849 OTOGL G>A	12	80672849	80672849	G	A	OTOGL	c.2831G>A	NM_001378609.3	NP_001365538.2:p.(Cys944Tyr)	NC_000012.11:g.80672849G>A	VUS	1 lab	a14dadc784
10:97636348 ENTPD1 G>T	10	97636348	97636348	G	T	ENTPD1	c.*10208G>T	NM_001776.6	NP_001767.3:p.?	NC_000010.10:g.97636348G>T	VUS	1 lab	a14fcf2782
11:55111627 OR4A16 A>G	11	55111627	55111627	A	G	OR4A16	c.951A>G	NM_001005274.1	NP_001005274.1:p.(Ile317Met)	NC_000011.9:g.55111627A>G	(Likely) benign	1 lab	a151dc27dd
7:92732406 SAMD9 A>G	7	92732406	92732406	A	G	SAMD9	c.3005T>C	NM_017654.4	NP_060124.2:p.(Leu1002Pro)	NC_000007.13:g.92732406A>G	VUS	1 lab	a1523d93e8
9:17342408 CNTLN T>A	9	17342408	17342408	T	A	CNTLN	c.1852T>A	NM_017738.4	NP_060208.2:p.(Phe618Ile)	NC_000009.11:g.17342408T>A	VUS	1 lab	a153577506
2:97587341 FAM178B G>T	2	97587341	97587341	G	T	FAM178B	c.1338C>A	NM_001122646.3	NP_001116118.2:p.(Asn446Lys)	NC_000002.11:g.97587341G>T	VUS	1 lab	a1538f9c3e
13:49027154 RB1 A>G	13	49027154	49027154	A	G	RB1	c.1721A>G	NM_000321.3	NP_000312.2:p.(Lys574Arg)	NC_000013.10:g.49027154A>G	(Likely) benign	1 lab	a15446dcdc
8:94793110 TMEM67 A>C	8	94793110	94793110	A	C	TMEM67	c.878A>C	NM_153704.6	NP_714915.3:p.(Asn293Thr)	NC_000008.10:g.94793110A>C	VUS	1 lab	a155a0075a
X:54492214 FGD1 A>G	X	54492214	54492214	A	G	FGD1	c.1412T>C	NM_004463.3	NP_004454.2:p.(Val471Ala)	NC_000023.10:g.54492214A>G	VUS	1 lab	a155c31011
2:234396933 USP40 C>T	2	234396933	234396933	C	T	USP40	c.3149G>A	NM_001365479.2	NP_001352408.1:p.(Arg1050Gln)	NC_000002.11:g.234396933C>T	VUS	1 lab	a1577caee7
12:69084513 NUP107 G>T	12	69084513	69084513	G	T	NUP107	c.290G>T	NM_020401.4	NP_065134.1:p.(Gly97Val)	NC_000012.11:g.69084513G>T	VUS	1 lab	a15a9c55e2
3:132235268 DNAJC13 C>T	3	132235268	132235268	C	T	DNAJC13	c.5488C>T	NM_015268.4	NP_056083.3:p.(Arg1830Cys)	NC_000003.11:g.132235268C>T	(Likely) benign	1 lab	a15bd87377
X:70524052 ITGB1BP2 C>T	X	70524052	70524052	C	T	ITGB1BP2	c.655C>T	NM_012278.4	NP_036410.1:p.(Arg219Cys)	NC_000023.10:g.70524052C>T	VUS	1 lab	a15ceeb891
X:152586108 PNMA6F T>C	X	152586108	152586108	T	C	PNMA6F	c.25A>G	NM_001354980.2	NP_001341909.1:p.(Met9Val)	NC_000023.10:g.152586108T>C	(Likely) benign	1 lab	a15e2f54cf
2:210707144 UNC80 A>C	2	210707144	210707144	A	C	UNC80	c.3428A>C	NM_001371986.1	NP_001358915.1:p.(Glu1143Ala)	NC_000002.11:g.210707144A>C	(Likely) benign	1 lab	a15f785322
8:145009232 PLEC G>A	8	145009232	145009232	G	A	PLEC	c.772C>T	NM_201384.3	NP_958786.1:p.(Leu258=)	NC_000008.10:g.145009232G>A	(Likely) benign	1 lab	a15f8ec650
1:150991153 PRUNE1 C>A	1	150991153	150991153	C	A	PRUNE1	c.335+8C>A	NM_021222.3	NP_067045.1:p.?	NC_000001.10:g.150991153C>A	(Likely) benign	1 lab	a15fbffa0c
2:178257708 AGPS C>T	2	178257708	178257708	C	T	AGPS	c.191C>T	NM_003659.4	NP_003650.1:p.(Ala64Val)	NC_000002.11:g.178257708C>T	VUS	1 lab	a15fc1f185
9:139720235 RABL6 G>A	9	139720235	139720235	G	A	RABL6	c.270G>A	NM_024718.5	NP_078994.3:p.(Thr90=)	NC_000009.11:g.139720235G>A	VUS	1 lab	a163df4686
2:36704093 CRIM1 G>A	2	36704093	36704093	G	A	CRIM1	c.1053G>A	NM_016441.3	NP_057525.1:p.(Met351Ile)	NC_000002.11:g.36704093G>A	(Likely) benign	1 lab	a164806267
16:11035633 DEXI C>T	16	11035633	11035633	C	T	DEXI	c.230G>A	NM_014015.4	NP_054734.2:p.(Gly77Asp)	NC_000016.9:g.11035633C>T	VUS	1 lab	a17ef6cf82
12:122252414 SETD1B G>A	12	122252414	122252414	G	A	SETD1B	c.2293G>A	NM_001353345.2	NP_001340274.1:p.(Gly765Ser)	NC_000012.11:g.122252414G>A	VUS	1 lab	a164ac75d2
14:77745192 POMT2 G>A	14	77745192	77745192	G	A	POMT2	c.1912C>T	NM_013382.7	NP_037514.2:p.(Arg638Ter)	NC_000014.8:g.77745192G>A	(Likely) pathogenic	1 lab	276d6131fe
X:30326759 NR0B1 C>T	X	30326759	30326759	C	T	NR0B1	c.722G>A	NM_000475.5	NP_000466.2:p.(Gly241Asp)	NC_000023.10:g.30326759C>T	VUS	1 lab	a16658903d
16:3778088 CREBBP C>A	16	3778088	3778088	C	A	CREBBP	c.6960G>T	NM_004380.3	NP_004371.2:p.(Met2320Ile)	NC_000016.9:g.3778088C>A	VUS	1 lab	a16676a9af
17:63532627 AXIN2 G>A	17	63532627	63532627	G	A	AXIN2	c.1952C>T	NM_004655.4	NP_004646.3:p.(Ser651Leu)	NC_000017.10:g.63532627G>A	(Likely) benign	1 lab	a167517422
6:30893061 VARS2 G>A	6	30893061	30893061	G	A	VARS2	c.2684G>A	NM_020442.6	NP_065175.4:p.(Arg895His)	NC_000006.11:g.30893061G>A	VUS	1 lab	a1685afb8e
19:31767776 TSHZ3 C>T	19	31767776	31767776	C	T	TSHZ3	c.2923G>A	NM_020856.4	NP_065907.2:p.(Val975Ile)	NC_000019.9:g.31767776C>T	(Likely) benign	1 lab	a16d7cd48a
16:88788700 PIEZO1 G>T	16	88788700	88788700	G	T	PIEZO1	c.4881C>A	NM_001142864.4	NP_001136336.2:p.(Asp1627Glu)	NC_000016.9:g.88788700G>T	VUS	1 lab	a16da08c69
2:176957792 HOXD13 G>GGCGGCGGCA	2	176957792	176957809	G	GGCGGCGGCA	HOXD13	c.183_191dup	NM_000523.4	NP_000514.2:p.(Ala69_Ala71dup)	NC_000002.11:g.176957801_176957809dup	VUS	1 lab	a16faea223
9:135947086 CEL G>A	9	135947086	135947086	G	A	CEL	c.2197G>A	NM_001807.6	NP_001798.3:p.(Ala733Thr)	NC_000009.11:g.135947086G>A	(Likely) benign	1 lab	a16fef4bb8
17:8141887 CTC1 C>T	17	8141887	8141887	C	T	CTC1	c.258G>A	NM_025099.6	NP_079375.3:p.(Ser86=)	NC_000017.10:g.8141887C>T	(Likely) benign	1 lab	28f7537a41
2:178098986 NFE2L2 A>G	2	178098986	178098986	A	G	NFE2L2	c.59T>C	NM_006164.5	NP_006155.2:p.(Ile20Thr)	NC_000002.11:g.178098986A>G	(Likely) benign	1 lab	a1711c7a3b
12:10271087 CLEC7A A>C	12	10271087	10271087	A	C	CLEC7A	c.714T>G	NM_197947.2	NP_922938.1:p.(Tyr238Ter)	NC_000012.11:g.10271087A>C	(Likely) benign	1 lab	28f7b20695
2:179197599 OSBPL6 T>C	2	179197599	179197599	T	C	OSBPL6	c.488T>C	NM_032523.4	NP_115912.1:p.(Val163Ala)	NC_000002.11:g.179197599T>C	VUS	1 lab	a1733ac27a
3:183873428 DVL3 G>C	3	183873428	183873428	G	C	DVL3	c.5G>C	NM_004423.4	NP_004414.3:p.(Gly2Ala)	NC_000003.11:g.183873428G>C	(Likely) benign	1 lab	a174745239
7:40117729 CDK13 G>T	7	40117729	40117729	G	T	CDK13	c.2897+9G>T	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40117729G>T	(Likely) benign	1 lab	a1748827c2
16:31195604 FUS GTGGACAGCAGCAAAGCTA>G	16	31195604	31195641	GTGGACAGCAGCAAAGCTA	G	FUS	c.430_447del	NM_004960.4	NP_004951.1:p.(Gly144_Tyr149del)	NC_000016.9:g.31195624_31195641del	VUS	1 lab	a1758ed723
12:120295443 CIT T>C	12	120295443	120295443	T	C	CIT	c.298A>G	NM_001206999.2	NP_001193928.1:p.(Arg100Gly)	NC_000012.11:g.120295443T>C	VUS	1 lab	a175b9cb8c
5:92929327 NR2F1 G>A	5	92929327	92929327	G	A	NR2F1	c.1051G>A	NM_005654.6	NP_005645.1:p.(Ala351Thr)	NC_000005.9:g.92929327G>A	VUS	1 lab	a176991b12
13:100809544 PCCA C>A	13	100809544	100809544	C	A	PCCA	c.418C>A	NM_000282.4	NP_000273.2:p.(His140Asn)	NC_000013.10:g.100809544C>A	VUS	1 lab	a176a2e136
3:49140779 QARS1 T>G	3	49140779	49140779	T	G	QARS1	c.515A>C	NM_005051.3	NP_005042.1:p.(Gln172Pro)	NC_000003.11:g.49140779T>G	VUS	1 lab	a178bc5aae
16:3779220 CREBBP G>T	16	3779220	3779220	G	T	CREBBP	c.5828C>A	NM_004380.3	NP_004371.2:p.(Pro1943Gln)	NC_000016.9:g.3779220G>T	VUS	1 lab	a1f3e60fca
12:122252574 SETD1B G>A	12	122252574	122252574	G	A	SETD1B	c.2453G>A	NM_001353345.2	NP_001340274.1:p.(Arg818Gln)	NC_000012.11:g.122252574G>A	(Likely) benign	1 lab	a17a69e946
7:143929745 OR2A42 G>T	7	143929745	143929745	G	T	OR2A42	c.192C>A	NM_001001802.3	NP_001001802.2:p.(His64Gln)	NC_000007.13:g.143929745G>T	VUS	1 lab	a17a86318d
17:38813649 KRT222 T>C	17	38813649	38813649	T	C	KRT222	c.614A>G	NM_152349.3	NP_689562.1:p.(Asn205Ser)	NC_000017.10:g.38813649T>C	VUS	1 lab	a17acd7b52
11:64375212 NRXN2 G>T	11	64375212	64375212	G	T	NRXN2	c.4595C>A	NM_015080.4	NP_055895.1:p.(Pro1532His)	NC_000011.9:g.64375212G>T	VUS	1 lab	a17c410ec3
14:24718568 TGM1 T>A	14	24718568	24718568	T	A	TGM1	c.2405A>T	NM_000359.3	NP_000350.1:p.(Asp802Val)	NC_000014.8:g.24718568T>A	(Likely) benign	1 lab	28f7f014b8
3:189597908 TP63 A>G	3	189597908	189597908	A	G	TP63	c.1350-6275A>G	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189597908A>G	(Likely) benign	1 lab	a19a27dd22
6:46657528 TDRD6 G>A	6	46657528	46657528	G	A	TDRD6	c.1663G>A	NM_001010870.3	NP_001010870.1:p.(Ala555Thr)	NC_000006.11:g.46657528G>A	VUS	1 lab	a17f8aedcc
11:64510322 RASGRP2 T>C	11	64510322	64510322	T	C	RASGRP2	c.17A>G	NM_001098671.2	NP_001092141.1:p.(Asp6Gly)	NC_000011.9:g.64510322T>C	VUS	1 lab	a18034b3af
3:57321953 ASB14 C>A	3	57321953	57321953	C	A	ASB14	c.445G>T	NM_001142733.3	NP_001136205.2:p.(Glu149Ter)	NC_000003.11:g.57321953C>A	(Likely) benign	1 lab	a1805e0560
X:118109381 LONRF3 G>A	X	118109381	118109381	G	A	LONRF3	c.638G>A	NM_001031855.3	NP_001027026.1:p.(Arg213Gln)	NC_000023.10:g.118109381G>A	VUS	1 lab	a1819974ce
15:90210167 PLIN1 C>T	15	90210167	90210167	C	T	PLIN1	c.1209G>A	NM_002666.5	NP_002657.3:p.(Pro403=)	NC_000015.9:g.90210167C>T	(Likely) benign	1 lab	a181ad93d1
16:30977471 SETD1A G>A	16	30977471	30977471	G	A	SETD1A	c.2269G>A	NM_014712.3	NP_055527.1:p.(Glu757Lys)	NC_000016.9:g.30977471G>A	VUS	1 lab	a181bd0302
16:845159 CHTF18 C>T	16	845159	845159	C	T	CHTF18	c.1978C>T	NM_022092.3	NP_071375.1:p.(Arg660Trp)	NC_000016.9:g.845159C>T	(Likely) benign	1 lab	a1822e227a
17:44248730 KANSL1 ACCC>A	17	44248730	44248736	ACCC	A	KANSL1	c.777_779del	NM_015443.4	NP_056258.1:p.(Gly260del)	NC_000017.10:g.44248734_44248736del	VUS	1 lab	a1823d8cde
4:3446058 HGFAC C>T	4	3446058	3446058	C	T	HGFAC	c.619C>T	NM_001528.4	NP_001519.1:p.(Arg207Cys)	NC_000004.11:g.3446058C>T	VUS	1 lab	a1825547a4
11:118842702 FOXR1 C>T	11	118842702	118842702	C	T	FOXR1	c.61C>T	NM_181721.3	NP_859072.1:p.(Leu21Phe)	NC_000011.9:g.118842702C>T	VUS	1 lab	a182cc1b2d
17:78064047 CCDC40 C>G	17	78064047	78064047	C	G	CCDC40	c.2832+364C>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064047C>G	VUS	1 lab	a182f86fa2
13:32905124 BRCA2 G>A	13	32905124	32905124	G	A	BRCA2	c.750G>A	NM_000059.3	NP_000050.2:p.(Val250=)	NC_000013.10:g.32905124G>A	VUS	1 lab	32eb3156c7
11:117076972 TAGLN C>A	11	117076972	117076972	C	A	TAGLN	c.*1897C>A	NM_003186.5	NP_003177.2:p.?	NC_000011.9:g.117076972C>A	(Likely) benign	1 lab	a18652f6e1
19:9017001 MUC16 A>C	19	9017001	9017001	A	C	MUC16	c.38180T>G	NM_001401501.2	NP_001388430.1:p.(Ile12727Ser)	NC_000019.9:g.9017001A>C	(Likely) benign	1 lab	a1955c6e59
9:5070033 JAK2 GAAATGA>G	9	5070033	5070040	GAAATGA	G	JAK2	c.1624_1629del	NM_004972.4	NP_004963.1:p.(Asn542_Glu543del)	NC_000009.11:g.5070035_5070040del	(Likely) pathogenic	1 lab	a1876b3890
X:75649744 MAGEE1 T>C	X	75649744	75649744	T	C	MAGEE1	c.1421T>C	NM_020932.3	NP_065983.1:p.(Met474Thr)	NC_000023.10:g.75649744T>C	(Likely) benign	1 lab	a189b7bdad
3:129231167 IFT122 A>G	3	129231167	129231167	A	G	IFT122	c.2899A>G	NM_052989.3	NP_443715.1:p.(Ser967Gly)	NC_000003.11:g.129231167A>G	VUS	1 lab	a18adf43d5
18:19762956 GATA6 T>C	18	19762956	19762956	T	C	GATA6	c.1572T>C	NM_005257.6	NP_005248.2:p.(Asp524=)	NC_000018.9:g.19762956T>C	(Likely) benign	1 lab	a18afc8cc0
20:60859170 OSBPL2 A>G	20	60859170	60859170	A	G	OSBPL2	c.941A>G	NM_144498.4	NP_653081.1:p.(Tyr314Cys)	NC_000020.10:g.60859170A>G	(Likely) benign	1 lab	a18b001f32
12:7842566 GDF3 A>T	12	7842566	7842566	A	T	GDF3	c.1003T>A	NM_020634.3	NP_065685.1:p.(Ser335Thr)	NC_000012.11:g.7842566A>T	VUS	1 lab	a18d61f42e
1:245530320 KIF26B C>T	1	245530320	245530320	C	T	KIF26B	c.650C>T	NM_018012.4	NP_060482.2:p.(Ser217Leu)	NC_000001.10:g.245530320C>T	(Likely) benign	1 lab	a18d935625
22:42457046 NAGA A>G	22	42457046	42457046	A	G	NAGA	c.983T>C	NM_000262.3	NP_000253.1:p.(Met328Thr)	NC_000022.10:g.42457046A>G	VUS	1 lab	a18fa24d70
12:42858709 PRICKLE1 T>C	12	42858709	42858709	T	C	PRICKLE1	c.1127A>G	NM_153026.3	NP_694571.2:p.(Asp376Gly)	NC_000012.11:g.42858709T>C	(Likely) benign	1 lab	a19037f3ca
7:87079309 ABCB4 C>T	7	87079309	87079309	C	T	ABCB4	c.808G>A	NM_000443.4	NP_000434.1:p.(Gly270Arg)	NC_000007.13:g.87079309C>T	VUS	1 lab	a190f63a1d
12:53517532 SOAT2 CA>C	12	53517532	53517533	CA	C	SOAT2	c.1394del	NM_003578.4	NP_003569.1:p.(His465LeufsTer12)	NC_000012.11:g.53517533del	(Likely) benign	1 lab	a1913a298b
1:228557938 OBSCN T>C	1	228557938	228557938	T	C	OBSCN	c.23036T>C	NM_001386125.1	NP_001373054.1:p.(Leu7679Pro)	NC_000001.10:g.228557938T>C	(Likely) benign	1 lab	a192d08faf
1:43225051 P3H1 C>T	1	43225051	43225051	C	T	P3H1	c.629G>A	NM_022356.4	NP_071751.3:p.(Arg210Gln)	NC_000001.10:g.43225051C>T	(Likely) benign	1 lab	a194b89a39
12:25362779 KRAS C>G	12	25362779	25362779	C	G	KRAS	c.517G>C	NM_004985.5	NP_004976.2:p.(Asp173His)	NC_000012.11:g.25362779C>G	VUS	1 lab	a1bfa2fa3a
20:21686462 PAX1 C>T	20	21686462	21686462	C	T	PAX1	c.112C>T	NM_001257096.2	NP_001244025.1:p.(Gln38Ter)	NC_000020.10:g.21686462C>T	(Likely) pathogenic	1 lab	a198d86ac2
3:45583409 LARS2 G>T	3	45583409	45583409	G	T	LARS2	c.2493G>T	NM_015340.4	NP_056155.1:p.(Glu831Asp)	NC_000003.11:g.45583409G>T	(Likely) benign	1 lab	a199ac965b
1:197073979 ASPM C>T	1	197073979	197073979	C	T	ASPM	c.4402G>A	NM_018136.5	NP_060606.3:p.(Ala1468Thr)	NC_000001.10:g.197073979C>T	VUS	1 lab	a19a8054ce
2:207172051 ZDBF2 TC>T	2	207172051	207172054	TC	T	ZDBF2	c.2802del	NM_020923.3	NP_065974.1:p.(Ile935LeufsTer4)	NC_000002.11:g.207172054del	VUS	1 lab	a19e64cae1
20:19955585 RIN2 T>TGC	20	19955585	19955586	T	TGC	RIN2	c.916_917insGC	NM_018993.4	NP_061866.1:p.(Ser306CysfsTer42)	NC_000020.10:g.19955585_19955586insGC	(Likely) benign	1 lab	a19f264002
18:44089705 LOXHD1 G>A	18	44089705	44089705	G	A	LOXHD1	c.5473C>T	NM_001384474.1	NP_001371403.1:p.(Arg1825Trp)	NC_000018.9:g.44089705G>A	VUS	1 lab	a1a047a670
1:27440518 SLC9A1 CAGGAAGA>C	1	27440518	27440528	CAGGAAGA	C	SLC9A1	c.605_611del	NM_003047.5	NP_003038.2:p.(Phe202TrpfsTer93)	NC_000001.10:g.27440522_27440528del	VUS	1 lab	a1a17c9a62
3:49721812 MST1 G>A	3	49721812	49721812	G	A	MST1	c.1951C>T	NM_020998.4	NP_066278.3:p.(Arg651Ter)	NC_000003.11:g.49721812G>A	(Likely) benign	1 lab	a1a19190f2
17:26732390 SLC46A1 C>G	17	26732390	26732390	C	G	SLC46A1	c.325G>C	NM_080669.6	NP_542400.2:p.(Asp109His)	NC_000017.10:g.26732390C>G	VUS	1 lab	a1a218deba
2:191064716 AKAP19 G>T	2	191064716	191064716	G	T	AKAP19	c.130G>T	NM_001042519.2	NP_001035984.1:p.(Val44Phe)	NC_000002.11:g.191064716G>T	(Likely) benign	1 lab	a1a31db110
16:88909445 GALNS T>C	16	88909445	88909445	T	C	GALNS	c.121-208A>G	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909445T>C	(Likely) benign	1 lab	a1a487cc56
2:220286207 DES AC>A	2	220286207	220286209	AC	A	DES	c.1171del	NM_001927.4	NP_001918.3:p.(Leu391CysfsTer4)	NC_000002.11:g.220286209del	VUS	1 lab	a1a5f2fad6
8:77618658 ZFHX4 G>T	8	77618658	77618658	G	T	ZFHX4	c.2335G>T	NM_024721.5	NP_078997.4:p.(Ala779Ser)	NC_000008.10:g.77618658G>T	VUS	1 lab	a1a6922b37
5:176024398 GPRIN1 C>T	5	176024398	176024398	C	T	GPRIN1	c.2438G>A	NM_052899.3	NP_443131.2:p.(Gly813Asp)	NC_000005.9:g.176024398C>T	VUS	1 lab	a1a900f9c6
15:23890252 MAGEL2 G>A	15	23890252	23890252	G	A	MAGEL2	c.2638C>T	NM_019066.5	NP_061939.3:p.(Arg880Cys)	NC_000015.9:g.23890252G>A	(Likely) benign	1 lab	a1a91b9982
14:75078217 LTBP2 C>A	14	75078217	75078217	C	A	LTBP2	c.431G>T	NM_000428.3	NP_000419.1:p.(Arg144Leu)	NC_000014.8:g.75078217C>A	VUS	1 lab	a281750271
6:117245960 RFX6 TTAAAA>T	6	117245960	117245968	TTAAAA	T	RFX6	c.1678+10_1678+14del	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117245964_117245968del	(Likely) benign	1 lab	a1a9914074
12:65082099 RASSF3 G>A	12	65082099	65082099	G	A	RASSF3	c.323G>A	NM_178169.4	NP_835463.1:p.(Gly108Asp)	NC_000012.11:g.65082099G>A	VUS	1 lab	a1a9dec858
X:151870218 MAGEA3 T>C	X	151870218	151870218	T	C	MAGEA3	c.908=	NM_005362.4	NP_005353.1:p.(Pro303=)	NC_000023.10:g.151870218T>C	VUS	1 lab	a1ac332db9
11:94203677 MRE11 G>A	11	94203677	94203677	G	A	MRE11	c.977C>T	NM_005591.4	NP_005582.1:p.(Pro326Leu)	NC_000011.9:g.94203677G>A	VUS	1 lab	a1ac6bd195
7:21742337 DNAH11 G>A	7	21742337	21742337	G	A	DNAH11	c.6190G>A	NM_001277115.2	NP_001264044.1:p.(Asp2064Asn)	NC_000007.13:g.21742337G>A	VUS	1 lab	a1ac7d6762
11:113610093 ZW10 T>C	11	113610093	113610093	T	C	ZW10	c.1595A>G	NM_004724.4	NP_004715.1:p.(Gln532Arg)	NC_000011.9:g.113610093T>C	(Likely) benign	1 lab	a1aea5fe86
16:88804221 PIEZO1 C>A	16	88804221	88804221	C	A	PIEZO1	c.1022G>T	NM_001142864.4	NP_001136336.2:p.(Arg341Met)	NC_000016.9:g.88804221C>A	(Likely) benign	1 lab	a1afaca27d
12:116406910 MED13L G>A	12	116406910	116406910	G	A	MED13L	c.6068-8C>T	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116406910G>A	(Likely) benign	1 lab	a1b09a7f40
15:74489686 STRA6 GGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGC>G	15	74489686	74489720	GGCCGGGCCTGCCACGCACACAGTCAGGCCAGAGC	G	STRA6	c.225_258del	NM_022369.4	NP_071764.3:p.(Gln75HisfsTer26)	NC_000015.9:g.74489687_74489720del	VUS	1 lab	a1b0d7f8ac
5:176721736 NSD1 T>C	5	176721736	176721736	T	C	NSD1	c.7367T>C	NM_022455.5	NP_071900.2:p.(Met2456Thr)	NC_000005.9:g.176721736T>C	VUS	1 lab	a1b380da3a
X:148035179 AFF2 A>T	X	148035179	148035179	A	T	AFF2	c.1467A>T	NM_002025.4	NP_002016.2:p.(Glu489Asp)	NC_000023.10:g.148035179A>T	VUS	1 lab	a1b3d5577d
20:62124168 EEF1A2 A>AGGAG	20	62124168	62124172	A	AGGAG	EEF1A2	c.772+321_772+322insCTCC	NM_001958.5	NP_001949.1:p.?	NC_000020.10:g.62124171_62124172insGGGA	VUS	1 lab	a1b5058de5
11:47464231 RAPSN C>T	11	47464231	47464231	C	T	RAPSN	c.667G>A	NM_005055.5	NP_005046.2:p.(Gly223Ser)	NC_000011.9:g.47464231C>T	VUS	1 lab	a1b5dc692e
13:77834601 MYCBP2 T>C	13	77834601	77834601	T	C	MYCBP2	c.1979A>G	NM_015057.5	NP_055872.4:p.(Tyr660Cys)	NC_000013.10:g.77834601T>C	VUS	1 lab	a1b6b7323f
8:77763345 ZFHX4 G>T	8	77763345	77763345	G	T	ZFHX4	c.4188G>T	NM_024721.5	NP_078997.4:p.(Lys1396Asn)	NC_000008.10:g.77763345G>T	(Likely) benign	1 lab	a1b73bcb45
13:28197244 POLR1D C>T	13	28197244	28197244	C	T	POLR1D	c.259C>T	NM_015972.4	NP_057056.1:p.(Arg87Ter)	NC_000013.10:g.28197244C>T	(Likely) pathogenic	1 lab	2773bb1c48
20:17610513 RRBP1 G>A	20	17610513	17610513	G	A	RRBP1	c.2704C>T	NM_001365613.2	NP_001352542.1:p.(Arg902Trp)	NC_000020.10:g.17610513G>A	(Likely) benign	1 lab	a1b8a69930
17:73481638 TMEM94 C>T	17	73481638	73481638	C	T	TMEM94	c.144+10C>T	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73481638C>T	(Likely) benign	1 lab	a1b8da1e11
16:72822246 ZFHX3 T>G	16	72822246	72822246	T	G	ZFHX3	c.9929A>C	NM_006885.4	NP_008816.3:p.(Tyr3310Ser)	NC_000016.9:g.72822246T>G	VUS	1 lab	a1baef772d
X:119210899 RHOXF2B T>G	X	119210899	119210899	T	G	RHOXF2B	c.434A>C	NM_001099685.3	NP_001093155.1:p.(Gln145Pro)	NC_000023.10:g.119210899T>G	(Likely) benign	1 lab	a1bb829bcf
16:3778974 CREBBP G>A	16	3778974	3778974	G	A	CREBBP	c.6074C>T	NM_004380.3	NP_004371.2:p.(Pro2025Leu)	NC_000016.9:g.3778974G>A	VUS	1 lab	a1bd5aa9b8
19:42489071 ATP1A3 G>A	19	42489071	42489071	G	A	ATP1A3	c.992C>T	NM_152296.5	NP_689509.1:p.(Thr331Ile)	NC_000019.9:g.42489071G>A	VUS	1 lab	a1bddd5143
2:219735876 WNT6 C>G	2	219735876	219735876	C	G	WNT6	c.208C>G	NM_006522.4	NP_006513.1:p.(Arg70Gly)	NC_000002.11:g.219735876C>G	VUS	1 lab	a1bea672ae
12:107372230 MTERF2 C>T	12	107372230	107372230	C	T	MTERF2	c.263G>A	NM_001033050.3	NP_001028222.1:p.(Gly88Asp)	NC_000012.11:g.107372230C>T	VUS	1 lab	a1bec54e09
14:58698938 ACTR10 G>A	14	58698938	58698938	G	A	ACTR10	c.1025G>A	NM_018477.3	NP_060947.1:p.(Arg342Gln)	NC_000014.8:g.58698938G>A	VUS	1 lab	a1bfe6f238
14:24634047 IRF9 C>T	14	24634047	24634047	C	T	IRF9	c.874C>T	NM_006084.5	NP_006075.3:p.(Arg292Cys)	NC_000014.8:g.24634047C>T	(Likely) benign	1 lab	a1c066e7c9
4:5633725 EVC2 A>C	4	5633725	5633725	A	C	EVC2	c.1505T>G	NM_147127.5	NP_667338.3:p.(Leu502Arg)	NC_000004.11:g.5633725A>C	VUS	1 lab	a1c35f2c80
1:17257061 CROCC G>T	1	17257061	17257061	G	T	CROCC	c.821G>T	NM_014675.5	NP_055490.4:p.(Arg274Leu)	NC_000001.10:g.17257061G>T	(Likely) benign	1 lab	a1c3d6f01a
5:39306903 C9 A>G	5	39306903	39306903	A	G	C9	c.1241-9T>C	NM_001737.5	NP_001728.1:p.?	NC_000005.9:g.39306903A>G	VUS	1 lab	a1c48603a0
3:10142915 FANCD2 A>C	3	10142915	10142915	A	C	FANCD2	c.4325A>C	NM_001018115.3	NP_001018125.1:p.(Asp1442Ala)	NC_000003.11:g.10142915A>C	VUS	1 lab	277661a799
13:52507393 ATP7B T>A	13	52507393	52507393	T	A	ATP7B	c.*1499A>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52507393T>A	VUS	1 lab	a1c68a16cb
17:17699771 RAI1 A>G	17	17699771	17699771	A	G	RAI1	c.3509A>G	NM_030665.4	NP_109590.3:p.(Asn1170Ser)	NC_000017.10:g.17699771A>G	VUS	1 lab	a1c6e1f7e0
6:7387287 CAGE1 A>T	6	7387287	7387287	A	T	CAGE1	c.120T>A	NM_001170692.2	NP_001164163.1:p.(Asn40Lys)	NC_000006.11:g.7387287A>T	(Likely) benign	1 lab	a1c79a44fc
16:1968001 HS3ST6 C>A	16	1968001	1968001	C	A	HS3ST6	c.324G>T	NM_001009606.4	NP_001009606.3:p.(Glu108Asp)	NC_000016.9:g.1968001C>A	(Likely) benign	1 lab	a1c87f9e58
14:100705604 YY1 A>G	14	100705604	100705604	A	G	YY1	c.23A>G	NM_003403.5	NP_003394.1:p.(Tyr8Cys)	NC_000014.8:g.100705604A>G	VUS	1 lab	a1c8c96c79
2:145157213 ZEB2 G>A	2	145157213	145157213	G	A	ZEB2	c.1541C>T	NM_014795.4	NP_055610.1:p.(Pro514Leu)	NC_000002.11:g.145157213G>A	VUS	1 lab	a1c9fad8ec
5:37020568 NIPBL G>A	5	37020568	37020568	G	A	NIPBL	c.5018G>A	NM_133433.4	NP_597677.2:p.(Arg1673His)	NC_000005.9:g.37020568G>A	(Likely) benign	1 lab	a1cb35e523
12:121434170 HNF1A C>T	12	121434170	121434170	C	T	HNF1A	c.1061C>T	NM_000545.8	NP_000536.6:p.(Thr354Met)	NC_000012.11:g.121434170C>T	VUS	1 lab	a1cc7da012
17:79479175 ACTG1 G>A	17	79479175	79479175	G	A	ACTG1	c.124-7C>T	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79479175G>A	(Likely) benign	1 lab	a1ce3645f6
15:48788326 FBN1 A>AT	15	48788326	48788327	A	AT	FBN1	c.2389dup	NM_000138.5	NP_000129.3:p.(Ile797AsnfsTer5)	NC_000015.9:g.48788327dup	(Likely) pathogenic	1 lab	a1cecf8b10
16:88780104 CTU2 G>A	16	88780104	88780104	G	A	CTU2	c.923G>A	NM_001012759.3	NP_001012777.1:p.(Arg308Gln)	NC_000016.9:g.88780104G>A	VUS	1 lab	a1cfd6869f
2:73800211 ALMS1 A>G	2	73800211	73800211	A	G	ALMS1	c.11207A>G	NM_001378454.1	NP_001365383.1:p.(Asp3736Gly)	NC_000002.11:g.73800211A>G	VUS	1 lab	a1d00e73eb
16:2816386 SRRM2 G>A	16	2816386	2816386	G	A	SRRM2	c.5857G>A	NM_016333.4	NP_057417.3:p.(Val1953Met)	NC_000016.9:g.2816386G>A	(Likely) benign	1 lab	a1d0682f05
3:114099625 ZBTB20 G>T	3	114099625	114099625	G	T	ZBTB20	c.10C>A	NM_001348800.3	NP_001335729.1:p.(Arg4=)	NC_000003.11:g.114099625G>T	(Likely) benign	1 lab	a1d1970453
8:11606602 GATA4 C>T	8	11606602	11606602	C	T	GATA4	c.786+8C>T	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11606602C>T	(Likely) benign	1 lab	a1d19e9876
12:13715954 GRIN2B G>A	12	13715954	13715954	G	A	GRIN2B	c.4218C>T	NM_000834.4	NP_000825.2:p.(Phe1406=)	NC_000012.11:g.13715954G>A	(Likely) benign	1 lab	32ee1c4bd0
6:24278353 DCDC2 GTCT>G	6	24278353	24278360	GTCT	G	DCDC2	c.843_845del	NM_016356.5	NP_057440.2:p.(Glu281del)	NC_000006.11:g.24278358_24278360del	VUS	1 lab	a1d34f1205
19:9544464 ZNF266 TA>T	19	9544464	9544478	TA	T	ZNF266	c.-248-3del	NM_001370374.1	NP_001357303.1:p.?	NC_000019.9:g.9544478del	VUS	1 lab	a1d3b78ae3
7:147964118 CNTNAP2 C>T	7	147964118	147964118	C	T	CNTNAP2	c.3382-7C>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147964118C>T	VUS	1 lab	a356a89b02
1:12064931 MFN2 G>A	1	12064931	12064931	G	A	MFN2	c.1442G>A	NM_014874.4	NP_055689.1:p.(Arg481His)	NC_000001.10:g.12064931G>A	VUS	1 lab	a1d5f4446a
12:2797865 CACNA1C C>G	12	2797865	2797865	C	G	CACNA1C	c.6037C>G	NM_000719.7	NP_000710.5:p.(Pro2013Ala)	NC_000012.11:g.2797865C>G	VUS	1 lab	a1d7632aa9
16:70698642 MTSS2 C>T	16	70698642	70698642	C	T	MTSS2	c.1330G>A	NM_138383.3	NP_612392.1:p.(Ala444Thr)	NC_000016.9:g.70698642C>T	(Likely) benign	1 lab	a1dad6dc24
3:57232458 HESX1 G>C	3	57232458	57232458	G	C	HESX1	c.420C>G	NM_003865.3	NP_003856.1:p.(Asp140Glu)	NC_000003.11:g.57232458G>C	VUS	1 lab	a1db6f97de
16:2147320 PKD1 C>A	16	2147320	2147320	C	A	PKD1	c.10405G>T	NM_001009944.3	NP_001009944.3:p.(Asp3469Tyr)	NC_000016.9:g.2147320C>A	(Likely) pathogenic	1 lab	a1dc80460c
5:37121807 CPLANE1 G>GTAC	5	37121807	37121811	G	GTAC	CPLANE1	c.9094_9096dup	NM_001384732.1	NP_001371661.1:p.(Val3032dup)	NC_000005.9:g.37121809_37121811dup	VUS	1 lab	a1dcb443df
1:1684347 NADK CCCT>C	1	1684347	1684375	CCCT	C	NADK	c.1334_1336del	NM_023018.5	NP_075394.3:p.(Glu445del)	NC_000001.10:g.1684373_1684375del	VUS	1 lab	a1e0310b36
3:135870925 MSL2 CAG>C	3	135870925	135870931	CAG	C	MSL2	c.796_797del	NM_018133.4	NP_060603.2:p.(Leu266ValfsTer5)	NC_000003.11:g.135870930_135870931del	VUS	1 lab	a1e0644d5f
2:239988500 HDAC4 A>G	2	239988500	239988500	A	G	HDAC4	c.2921T>C	NM_001378414.1	NP_001365343.1:p.(Val974Ala)	NC_000002.11:g.239988500A>G	VUS	1 lab	a1e14e7157
13:111293898 CARS2 T>C	13	111293898	111293898	T	C	CARS2	c.1681A>G	NM_024537.4	NP_078813.1:p.(Lys561Glu)	NC_000013.10:g.111293898T>C	(Likely) benign	1 lab	a1e367965f
2:58449163 FANCL C>A	2	58449163	58449163	C	A	FANCL	c.288G>T	NM_018062.4	NP_060532.2:p.(Lys96Asn)	NC_000002.11:g.58449163C>A	(Likely) benign	1 lab	a1e4291e83
15:41796753 LTK C>T	15	41796753	41796753	C	T	LTK	c.2206G>A	NM_002344.6	NP_002335.2:p.(Val736Ile)	NC_000015.9:g.41796753C>T	VUS	1 lab	a1ea3462d0
18:11131471 PIEZO2 A>G	18	11131471	11131471	A	G	PIEZO2	c.64+17053T>C	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.11131471A>G	(Likely) benign	1 lab	a1eb093051
17:78343428 RNF213 TCTC>T	17	78343428	78343434	TCTC	T	RNF213	c.12286_12288del	NM_001256071.3	NP_001243000.2:p.(Leu4096del)	NC_000017.10:g.78343432_78343434del	VUS	1 lab	a1ebae98f3
3:160021775 IFT80 G>A	3	160021775	160021775	G	A	IFT80	c.1079C>T	NM_020800.3	NP_065851.1:p.(Thr360Met)	NC_000003.11:g.160021775G>A	VUS	1 lab	a1ecdc25d0
20:61987294 CHRNA4 CTGTAGAGGACTCACTTGT>C	20	61987294	61987340	CTGTAGAGGACTCACTTGT	C	CHRNA4	c.383+15_383+32del	NM_000744.7	NP_000735.1:p.?	NC_000020.10:g.61987323_61987340del	(Likely) benign	1 lab	277cdc26d1
5:171785833 SH3PXD2B G>A	5	171785833	171785833	G	A	SH3PXD2B	c.611C>T	NM_001017995.3	NP_001017995.1:p.(Thr204Met)	NC_000005.9:g.171785833G>A	VUS	1 lab	a1f0610bac
13:52532670 ATP7B C>T	13	52532670	52532670	C	T	ATP7B	c.2132G>A	NM_000053.4	NP_000044.2:p.(Gly711Glu)	NC_000013.10:g.52532670C>T	(Likely) pathogenic	1 lab	a1f07c19f4
7:104752681 KMT2E G>A	7	104752681	104752681	G	A	KMT2E	c.4478G>A	NM_182931.3	NP_891847.1:p.(Arg1493Gln)	NC_000007.13:g.104752681G>A	VUS	1 lab	a1f1e7d9b2
19:55255319 KIR2DL3 C>A	19	55255319	55255319	C	A	KIR2DL3	c.447C>A	NM_015868.3	NP_056952.2:p.(Cys149Ter)	NC_000019.9:g.55255319C>A	VUS	1 lab	a1f31f8cdc
22:18643014 USP18 A>C	22	18643014	18643014	A	C	USP18	c.233A>C	NM_017414.4	NP_059110.2:p.(Asp78Ala)	NC_000022.10:g.18643014A>C	(Likely) benign	1 lab	a1f3ecb717
19:58640065 ZNF329 C>T	19	58640065	58640065	C	T	ZNF329	c.806G>A	NM_024620.4	NP_078896.3:p.(Ser269Asn)	NC_000019.9:g.58640065C>T	VUS	1 lab	a1f43a808f
19:5696181 LONP1 C>G	19	5696181	5696181	C	G	LONP1	c.1897G>C	NM_004793.4	NP_004784.2:p.(Val633Leu)	NC_000019.9:g.5696181C>G	VUS	1 lab	a1f5387a65
2:182542971 NEUROD1 T>TG	2	182542971	182542978	T	TG	NEUROD1	c.616dup	NM_002500.5	NP_002491.3:p.(His206ProfsTer38)	NC_000002.11:g.182542978dup	(Likely) pathogenic	1 lab	a1f6a361a8
16:1560989 IFT140 C>T	16	1560989	1560989	C	T	IFT140	c.4345G>A	NM_014714.4	NP_055529.2:p.(Glu1449Lys)	NC_000016.9:g.1560989C>T	VUS	1 lab	a1f7d3e1d8
16:30370910 TBC1D10B G>A	16	30370910	30370910	G	A	TBC1D10B	c.1401C>T	NM_015527.4	NP_056342.3:p.(Cys467=)	NC_000016.9:g.30370910G>A	VUS	1 lab	a1f8242934
19:20989769 ZNF66 T>C	19	20989769	20989769	T	C	ZNF66	c.1363T>C	NM_001355197.2	NP_001342126.2:p.(Cys455Arg)	NC_000019.9:g.20989769T>C	VUS	1 lab	a1f92868a2
15:90320432 MESP2 C>G	15	90320432	90320432	C	G	MESP2	c.844C>G	NM_001039958.2	NP_001035047.1:p.(Gln282Glu)	NC_000015.9:g.90320432C>G	VUS	1 lab	a1f93a5ce2
17:36059196 HNF1B G>A	17	36059196	36059196	G	A	HNF1B	c.1539C>T	NM_000458.4	NP_000449.1:p.(Tyr513=)	NC_000017.10:g.36059196G>A	(Likely) benign	1 lab	a1f9939218
6:43024060 MRPL2 C>T	6	43024060	43024060	C	T	MRPL2	c.389G>A	NM_015950.5	NP_057034.2:p.(Arg130His)	NC_000006.11:g.43024060C>T	VUS	1 lab	a1fa02cd53
6:31996294 C4B G>A	6	31996294	31996294	G	A	C4B	c.3215G>A	NM_001002029.4	NP_001002029.3:p.(Arg1072Gln)	NC_000006.11:g.31996294G>A	(Likely) benign	1 lab	a1fb0d9d33
1:160094631 ATP1A2 C>T	1	160094631	160094631	C	T	ATP1A2	c.631-295C>T	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160094631C>T	(Likely) benign	1 lab	a1fc1a84f9
16:30999434 HSD3B7 T>C	16	30999434	30999434	T	C	HSD3B7	c.1040T>C	NM_025193.4	NP_079469.2:p.(Leu347Pro)	NC_000016.9:g.30999434T>C	(Likely) benign	1 lab	a1fd66d8d4
3:58139150 FLNB G>A	3	58139150	58139150	G	A	FLNB	c.6416G>A	NM_001457.4	NP_001448.2:p.(Arg2139His)	NC_000003.11:g.58139150G>A	(Likely) benign	1 lab	a1fd7d0077
1:241676949 FH C>A	1	241676949	241676949	C	A	FH	c.332G>T	NM_000143.4	NP_000134.2:p.(Gly111Val)	NC_000001.10:g.241676949C>A	VUS	1 lab	a1fdec07a5
2:179612255 TTN A>G	2	179612255	179612255	A	G	TTN	c.11311+5596T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612255A>G	(Likely) benign	1 lab	a1fe793fc8
12:88530499 CEP290 T>C	12	88530499	88530499	T	C	CEP290	c.362A>G	NM_025114.4	NP_079390.3:p.(Glu121Gly)	NC_000012.11:g.88530499T>C	VUS	1 lab	a1fedd12e3
8:41839377 KAT6A G>A	8	41839377	41839377	G	A	KAT6A	c.805C>T	NM_006766.5	NP_006757.2:p.(Arg269Ter)	NC_000008.10:g.41839377G>A	VUS	1 lab	a2016bdc53
1:235926015 LYST T>C	1	235926015	235926015	T	C	LYST	c.6253+5A>G	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235926015T>C	(Likely) benign	1 lab	a2033e04ce
14:21859730 CHD8 A>T	14	21859730	21859730	A	T	CHD8	c.6957T>A	NM_001170629.2	NP_001164100.1:p.(Asn2319Lys)	NC_000014.8:g.21859730A>T	VUS	1 lab	a203706974
7:73471997 ELN C>A	7	73471997	73471997	C	A	ELN	c.1385C>A	NM_000501.4	NP_000492.2:p.(Ala462Asp)	NC_000007.13:g.73471997C>A	VUS	1 lab	a204d2aa4c
11:119003641 HINFP G>A	11	119003641	119003641	G	A	HINFP	c.943G>A	NM_198971.3	NP_945322.1:p.(Asp315Asn)	NC_000011.9:g.119003641G>A	VUS	1 lab	a2056bd85d
12:121437171 HNF1A C>T	12	121437171	121437171	C	T	HNF1A	c.1602C>T	NM_000545.8	NP_000536.6:p.(Ala534=)	NC_000012.11:g.121437171C>T	(Likely) benign	1 lab	a205e658ef
9:135946634 CEL T>C	9	135946634	135946634	T	C	CEL	c.1745T>C	NM_001807.6	NP_001798.3:p.(Val582Ala)	NC_000009.11:g.135946634T>C	(Likely) benign	1 lab	a208de95e0
12:52139669 SCN8A CT>C	12	52139669	52139682	CT	C	SCN8A	c.1999-5del	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52139682del	(Likely) benign	1 lab	28fb27f3f9
15:90622936 ZNF710 G>A	15	90622936	90622936	G	A	ZNF710	c.1870G>A	NM_198526.4	NP_940928.2:p.(Gly624Ser)	NC_000015.9:g.90622936G>A	(Likely) benign	1 lab	a20a233c3b
9:135946704 CEL G>C	9	135946704	135946704	G	C	CEL	c.1815G>C	NM_001807.6	NP_001798.3:p.(Pro605=)	NC_000009.11:g.135946704G>C	(Likely) benign	1 lab	a20b56da62
1:237755119 RYR2 G>A	1	237755119	237755119	G	A	RYR2	c.4241G>A	NM_001035.3	NP_001026.2:p.(Arg1414Gln)	NC_000001.10:g.237755119G>A	(Likely) benign	1 lab	a20e372453
4:74863996 CXCL5 C>T	4	74863996	74863996	C	T	CXCL5	c.169G>A	NM_002994.5	NP_002985.1:p.(Gly57Arg)	NC_000004.11:g.74863996C>T	(Likely) benign	1 lab	a2112e7607
4:95377437 PDLIM5 T>C	4	95377437	95377437	T	C	PDLIM5	c.96+902T>C	NM_006457.5	NP_006448.5:p.?	NC_000004.11:g.95377437T>C	(Likely) benign	1 lab	a2114c4a46
17:43314640 FMNL1 C>T	17	43314640	43314640	C	T	FMNL1	c.724-8C>T	NM_005892.4	NP_005883.3:p.?	NC_000017.10:g.43314640C>T	(Likely) benign	1 lab	a2114ecea7
16:2140974 PKD1 G>A	16	2140974	2140974	G	A	PKD1	c.11914C>T	NM_001009944.3	NP_001009944.3:p.(Arg3972Cys)	NC_000016.9:g.2140974G>A	VUS	1 lab	a21187890e
10:61832652 ANK3 C>T	10	61832652	61832652	C	T	ANK3	c.7987G>A	NM_020987.5	NP_066267.2:p.(Glu2663Lys)	NC_000010.10:g.61832652C>T	(Likely) benign	1 lab	a2132f3b98
12:14940277 WBP11 T>C	12	14940277	14940277	T	C	WBP11	c.1648A>G	NM_016312.3	NP_057396.1:p.(Ser550Gly)	NC_000012.11:g.14940277T>C	VUS	1 lab	a2138d7b0d
14:73412739 DCAF4 C>A	14	73412739	73412739	C	A	DCAF4	c.678+4C>A	NM_015604.4	NP_056419.2:p.?	NC_000014.8:g.73412739C>A	(Likely) benign	1 lab	a2145ff899
2:220356573 SPEG G>C	2	220356573	220356573	G	C	SPEG	c.9443G>C	NM_005876.5	NP_005867.3:p.(Gly3148Ala)	NC_000002.11:g.220356573G>C	VUS	1 lab	a214b3ce4b
12:98940133 TMPO T>C	12	98940133	98940133	T	C	TMPO	c.991-4T>C	NM_001032283.2	NP_001027454.1:p.?	NC_000012.11:g.98940133T>C	(Likely) benign	1 lab	28fbbe53a6
2:50574008 NRXN1 GCGC>G	2	50574008	50574039	GCGC	G	NRXN1	c.77_79del	NM_001330092.2	NP_001317021.1:p.(Gly26del)	NC_000002.11:g.50574037_50574039del	VUS	1 lab	27827ec5cc
14:105179863 INF2 G>A	14	105179863	105179863	G	A	INF2	c.2960G>A	NM_022489.4	NP_071934.3:p.(Arg987Gln)	NC_000014.8:g.105179863G>A	(Likely) benign	1 lab	a21b1f441b
X:26235784 MAGEB5 T>A	X	26235784	26235784	T	A	MAGEB5	c.366T>A	NM_001271752.1	NP_001258681.1:p.(His122Gln)	NC_000023.10:g.26235784T>A	VUS	1 lab	a21c4f64cd
X:18528981 CDKL5 A>G	X	18528981	18528981	A	G	CDKL5	c.99+7A>G	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18528981A>G	(Likely) benign	1 lab	a21d73afa7
2:110371400 SEPTIN10 G>A	2	110371400	110371400	G	A	SEPTIN10	c.5C>T	NM_144710.5	NP_653311.1:p.(Ala2Val)	NC_000002.11:g.110371400G>A	(Likely) benign	1 lab	a21f93d435
11:76890840 MYO7A G>T	11	76890840	76890840	G	T	MYO7A	c.2427G>T	NM_000260.4	NP_000251.3:p.(Gln809His)	NC_000011.9:g.76890840G>T	VUS	1 lab	a2202a2bfb
1:200530002 KIF14 A>G	1	200530002	200530002	A	G	KIF14	c.4078T>C	NM_014875.3	NP_055690.1:p.(Cys1360Arg)	NC_000001.10:g.200530002A>G	VUS	1 lab	a221b86cff
2:220085847 ATG9A T>C	2	220085847	220085847	T	C	ATG9A	c.2323A>G	NM_001077198.3	NP_001070666.1:p.(Thr775Ala)	NC_000002.11:g.220085847T>C	VUS	1 lab	a221e54c41
4:114278935 ANK2 C>G	4	114278935	114278935	C	G	ANK2	c.9161C>G	NM_001148.6	NP_001139.3:p.(Ala3054Gly)	NC_000004.11:g.114278935C>G	VUS	1 lab	a222123199
6:117203600 RFX6 C>A	6	117203600	117203600	C	A	RFX6	c.566+9C>A	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117203600C>A	(Likely) benign	1 lab	a2221280f0
11:94760153 KDM4E C>T	11	94760153	94760153	C	T	KDM4E	c.1432C>T	NM_001161630.1	NP_001155102.1:p.(Arg478Cys)	NC_000011.9:g.94760153C>T	VUS	1 lab	a22603d86f
9:137007443 WDR5 ACT>A	9	137007443	137007447	ACT	A	WDR5	c.355-9_355-8del	NM_017588.3	NP_060058.1:p.?	NC_000009.11:g.137007446_137007447del	VUS	1 lab	a227deda8a
7:128494159 FLNC C>T	7	128494159	128494159	C	T	FLNC	c.6616C>T	NM_001458.5	NP_001449.3:p.(Arg2206Trp)	NC_000007.13:g.128494159C>T	VUS	1 lab	a2282329a9
12:48526634 PFKM T>A	12	48526634	48526634	T	A	PFKM	c.238-17T>A	NM_000289.6	NP_000280.1:p.?	NC_000012.11:g.48526634T>A	(Likely) benign	1 lab	28fcf7d516
8:144892900 SCRIB G>C	8	144892900	144892900	G	C	SCRIB	c.1360C>G	NM_182706.5	NP_874365.3:p.(Pro454Ala)	NC_000008.10:g.144892900G>C	VUS	1 lab	a22a09cfa2
7:104748308 KMT2E G>A	7	104748308	104748308	G	A	KMT2E	c.3404G>A	NM_182931.3	NP_891847.1:p.(Arg1135Gln)	NC_000007.13:g.104748308G>A	(Likely) benign	1 lab	a22ad86a14
1:40767511 COL9A2 C>T	1	40767511	40767511	C	T	COL9A2	c.1843G>A	NM_001852.4	NP_001843.1:p.(Gly615Arg)	NC_000001.10:g.40767511C>T	VUS	1 lab	a22b2178ce
21:31798184 KRTAP13-3 C>A	21	31798184	31798184	C	A	KRTAP13-3	c.47G>T	NM_181622.2	NP_853653.1:p.(Gly16Val)	NC_000021.8:g.31798184C>A	VUS	1 lab	a22df74129
X:48682621 HDAC6 G>A	X	48682621	48682621	G	A	HDAC6	c.3496G>A	NM_006044.4	NP_006035.2:p.(Gly1166Arg)	NC_000023.10:g.48682621G>A	(Likely) benign	1 lab	a23007032b
17:31323886 SPACA3 C>T	17	31323886	31323886	C	T	SPACA3	c.369C>T	NM_173847.5	NP_776246.1:p.(Ser123=)	NC_000017.10:g.31323886C>T	VUS	1 lab	a2300ed895
21:34957011 DONSON G>A	21	34957011	34957011	G	A	DONSON	c.670C>T	NM_017613.4	NP_060083.1:p.(Pro224Ser)	NC_000021.8:g.34957011G>A	(Likely) pathogenic	1 lab	a2315a99f2
8:27641565 ESCO2 A>G	8	27641565	27641565	A	G	ESCO2	c.1004A>G	NM_001017420.3	NP_001017420.1:p.(Asn335Ser)	NC_000008.10:g.27641565A>G	(Likely) benign	1 lab	a233d171f3
10:102748140 TWNK C>T	10	102748140	102748140	C	T	TWNK	c.173C>T	NM_021830.5	NP_068602.2:p.(Thr58Ile)	NC_000010.10:g.102748140C>T	(Likely) benign	1 lab	a2350afa7c
2:228197304 MFF A>AATCCGAGCAGTTGGCAGACTAAAAAGAGAGC	2	228197304	228197305	A	AATCCGAGCAGTTGGCAGACTAAAAAGAGAGC	MFF	c.351_351+1insATCCGAGCAGTTGGCAGACTAAAAAGAGAGC	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228197304_228197305insATCCGAGCAGTTGGCAGACTAAAAAGAGAGC	VUS	1 lab	a23528137d
16:55857452 CES1 G>C	16	55857452	55857452	G	C	CES1	c.539+10C>G	NM_001025195.2	NP_001020366.1:p.?	NC_000016.9:g.55857452G>C	(Likely) benign	1 lab	a23554703d
16:30980793 SETD1A C>T	16	30980793	30980793	C	T	SETD1A	c.2928+10C>T	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30980793C>T	(Likely) benign	1 lab	a2381fcb8a
15:79056407 ADAMTS7 C>T	15	79056407	79056407	C	T	ADAMTS7	c.4454G>A	NM_014272.5	NP_055087.2:p.(Arg1485Gln)	NC_000015.9:g.79056407C>T	VUS	1 lab	a238fb362f
19:7122796 INSR A>C	19	7122796	7122796	A	C	INSR	c.3370-12T>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7122796A>C	(Likely) benign	1 lab	a23a0055e2
1:156838297 NTRK1 G>C	1	156838297	156838297	G	C	NTRK1	c.575G>C	NM_002529.4	NP_002520.2:p.(Gly192Ala)	NC_000001.10:g.156838297G>C	VUS	1 lab	a23b7bb1fd
1:152191556 HRNR T>C	1	152191556	152191556	T	C	HRNR	c.2549A>G	NM_001009931.3	NP_001009931.1:p.(Gln850Arg)	NC_000001.10:g.152191556T>C	VUS	1 lab	a23d51cfb0
1:12014920 PLOD1 C>T	1	12014920	12014920	C	T	PLOD1	c.613C>T	NM_000302.4	NP_000293.2:p.(Arg205Cys)	NC_000001.10:g.12014920C>T	VUS	1 lab	a23da71560
14:69521835 DCAF5 C>T	14	69521835	69521835	C	T	DCAF5	c.1565G>A	NM_001284206.1	NP_001271135.1:p.(Arg522His)	NC_000014.8:g.69521835C>T	VUS	1 lab	278516c910
15:63353450 TPM1 C>T	15	63353450	63353450	C	T	TPM1	c.563+312C>T	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63353450C>T	VUS	1 lab	a241bb3cea
22:19754306 TBX1 C>CGCTGCCGCA	22	19754306	19754323	C	CGCTGCCGCA	TBX1	c.1440_1448dup	NM_001379200.1	NP_001366129.1:p.(Ala483_Ala485dup)	NC_000022.10:g.19754315_19754323dup	(Likely) benign	1 lab	a2442f1efc
2:179586815 TTN A>T	2	179586815	179586815	A	T	TTN	c.22575T>A	NM_001267550.2	NP_001254479.2:p.(Asp7525Glu)	NC_000002.11:g.179586815A>T	VUS	1 lab	a2444d5fb9
17:79818379 P4HB T>A	17	79818379	79818379	T	A	P4HB	c.-32A>T	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79818379T>A	VUS	1 lab	a244740ca0
1:167905028 MPC2 C>T	1	167905028	167905028	C	T	MPC2	c.52G>A	NM_001143674.4	NP_001137146.1:p.(Asp18Asn)	NC_000001.10:g.167905028C>T	VUS	1 lab	a245fc6d65
7:142563301 EPHB6 G>T	7	142563301	142563301	G	T	EPHB6	c.1021G>T	NM_004445.6	NP_004436.4:p.(Ala341Ser)	NC_000007.13:g.142563301G>T	VUS	1 lab	a246d6555d
9:131369869 SPTAN1 G>A	9	131369869	131369869	G	A	SPTAN1	c.4047-14G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131369869G>A	(Likely) benign	1 lab	28ff27cad5
14:105612984 JAG2 A>C	14	105612984	105612984	A	C	JAG2	c.2557T>G	NM_002226.5	NP_002217.3:p.(Cys853Gly)	NC_000014.8:g.105612984A>C	VUS	1 lab	a249c0693b
9:139342027 SEC16A T>C	9	139342027	139342027	T	C	SEC16A	c.6553A>G	NM_014866.2	NP_055681.1:p.(Arg2185Gly)	NC_000009.11:g.139342027T>C	VUS	1 lab	a24a064b2f
19:1037716 CNN2 G>A	19	1037716	1037716	G	A	CNN2	c.747G>A	NM_004368.4	NP_004359.1:p.(Met249Ile)	NC_000019.9:g.1037716G>A	(Likely) benign	1 lab	a24c127c2d
1:84647411 PRKACB G>A	1	84647411	84647411	G	A	PRKACB	c.250-472G>A	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647411G>A	(Likely) benign	1 lab	a24d95065c
12:80613585 OTOGL C>G	12	80613585	80613585	C	G	OTOGL	c.236-9C>G	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80613585C>G	(Likely) benign	1 lab	a24df84671
7:24758795 GSDME T>C	7	24758795	24758795	T	C	GSDME	c.447A>G	NM_004403.3	NP_004394.1:p.(Glu149=)	NC_000007.13:g.24758795T>C	(Likely) benign	1 lab	27868df65e
11:124767686 ROBO4 G>T	11	124767686	124767686	G	T	ROBO4	c.6C>A	NM_019055.6	NP_061928.4:p.(Gly2=)	NC_000011.9:g.124767686G>T	(Likely) benign	1 lab	a251a738f4
7:117246826 CFTR C>G	7	117246826	117246826	C	G	CFTR	c.2988+19C>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117246826C>G	(Likely) benign	1 lab	278697b38f
19:38987041 RYR1 T>C	19	38987041	38987041	T	C	RYR1	c.6664-8T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38987041T>C	VUS	1 lab	a252361707
16:71604680 TAT T>A	16	71604680	71604680	T	A	TAT	c.814A>T	NM_000353.3	NP_000344.1:p.(Ile272Phe)	NC_000016.9:g.71604680T>A	(Likely) benign	1 lab	a2524a609e
3:15563021 COLQ A>G	3	15563021	15563021	A	G	COLQ	c.106+6T>C	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15563021A>G	(Likely) benign	1 lab	a2531043b1
19:18899484 COMP G>T	19	18899484	18899484	G	T	COMP	c.679C>A	NM_000095.3	NP_000086.2:p.(Arg227Ser)	NC_000019.9:g.18899484G>T	(Likely) benign	1 lab	a2534f10d7
16:70942600 HYDIN G>C	16	70942600	70942600	G	C	HYDIN	c.8169C>G	NM_001270974.2	NP_001257903.1:p.(Asp2723Glu)	NC_000016.9:g.70942600G>C	VUS	1 lab	a26023df62
17:1373594 MYO1C G>C	17	1373594	1373594	G	C	MYO1C	c.2401C>G	NM_001080779.2	NP_001074248.1:p.(Arg801Gly)	NC_000017.10:g.1373594G>C	VUS	1 lab	a2568c31eb
22:43024245 CYB5R3 T>C	22	43024245	43024245	T	C	CYB5R3	c.376A>G	NM_000398.7	NP_000389.1:p.(Lys126Glu)	NC_000022.10:g.43024245T>C	VUS	1 lab	a257d71e36
4:103505961 NFKB1 C>T	4	103505961	103505961	C	T	NFKB1	c.1050C>T	NM_003998.4	NP_003989.2:p.(Tyr350=)	NC_000004.11:g.103505961C>T	(Likely) benign	1 lab	a2588db7f3
11:17169158 PIK3C2A C>A	11	17169158	17169158	C	A	PIK3C2A	c.1466G>T	NM_002645.4	NP_002636.2:p.(Ser489Ile)	NC_000011.9:g.17169158C>A	VUS	1 lab	a259d82e5f
14:36988463 NKX2-1 G>T	14	36988463	36988463	G	T	NKX2-1	c.190C>A	NM_001079668.3	NP_001073136.1:p.(Leu64Ile)	NC_000014.8:g.36988463G>T	(Likely) benign	1 lab	a25a545f6e
14:70480089 SMOC1 AT>A	14	70480089	70480093	AT	A	SMOC1	c.941-10del	NM_001034852.3	NP_001030024.1:p.?	NC_000014.8:g.70480093del	(Likely) benign	1 lab	a25c61ea59
7:92732591 SAMD9 TTTTTCACACTG>T	7	92732591	92732603	TTTTTCACACTG	T	SAMD9	c.2809_2819del	NM_017654.4	NP_060124.2:p.(Gln937IlefsTer17)	NC_000007.13:g.92732593_92732603del	VUS	1 lab	a25e02f666
2:228235706 TM4SF20 A>G	2	228235706	228235706	A	G	TM4SF20	c.184-10T>C	NM_024795.4	NP_079071.2:p.?	NC_000002.11:g.228235706A>G	(Likely) benign	1 lab	a25ee4df5c
12:13715899 GRIN2B C>T	12	13715899	13715899	C	T	GRIN2B	c.4273G>A	NM_000834.5	NP_000825.2:p.(Val1425Ile)	NC_000012.11:g.13715899C>T	VUS	1 lab	a25f945bc6
7:31016956 GHRHR T>C	7	31016956	31016956	T	C	GHRHR	c.1146+19T>C	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016956T>C	(Likely) benign	1 lab	a25fbc7b60
18:28919985 DSG1 G>T	18	28919985	28919985	G	T	DSG1	c.1684G>T	NM_001942.4	NP_001933.2:p.(Gly562Ter)	NC_000018.9:g.28919985G>T	(Likely) pathogenic	1 lab	2790e2ac91
20:61458171 COL9A3 C>T	20	61458171	61458171	C	T	COL9A3	c.791C>T	NM_001853.4	NP_001844.3:p.(Ala264Val)	NC_000020.10:g.61458171C>T	(Likely) benign	1 lab	a260839c71
X:65244899 VSIG4 T>C	X	65244899	65244899	T	C	VSIG4	c.908A>G	NM_007268.3	NP_009199.1:p.(Tyr303Cys)	NC_000023.10:g.65244899T>C	(Likely) benign	1 lab	a2630e4751
11:64032784 PLCB3 G>A	11	64032784	64032784	G	A	PLCB3	c.2845G>A	NM_000932.5	NP_000923.1:p.(Val949Met)	NC_000011.9:g.64032784G>A	(Likely) benign	1 lab	a26442374d
12:29598252 OVCH1 C>T	12	29598252	29598252	C	T	OVCH1	c.2945G>A	NM_001353179.2	NP_001340108.1:p.(Arg982Gln)	NC_000012.11:g.29598252C>T	VUS	1 lab	a26504e7e4
17:48274551 COL1A1 G>A	17	48274551	48274551	G	A	COL1A1	c.740C>T	NM_000088.4	NP_000079.2:p.(Pro247Leu)	NC_000017.10:g.48274551G>A	VUS	1 lab	a265deb686
16:58585178 CNOT1 T>TA	16	58585178	58585190	T	TA	CNOT1	c.3202-3dup	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58585190dup	(Likely) benign	1 lab	a265f98d51
5:125885945 ALDH7A1 T>G	5	125885945	125885945	T	G	ALDH7A1	c.1358A>C	NM_001182.5	NP_001173.2:p.(Gln453Pro)	NC_000005.9:g.125885945T>G	VUS	1 lab	a266374770
5:71500992 MAP1B A>C	5	71500992	71500992	A	C	MAP1B	c.7333A>C	NM_005909.5	NP_005900.2:p.(Ile2445Leu)	NC_000005.9:g.71500992A>C	VUS	1 lab	27950ad33e
2:227915815 COL4A4 G>A	2	227915815	227915815	G	A	COL4A4	c.3028C>T	NM_000092.5	NP_000083.3:p.(Pro1010Ser)	NC_000002.11:g.227915815G>A	VUS	1 lab	a267ea0f9d
8:11614564 GATA4 A>G	8	11614564	11614564	A	G	GATA4	c.1121A>G	NM_001308093.3	NP_001295022.1:p.(His374Arg)	NC_000008.10:g.11614564A>G	VUS	1 lab	a268071b70
14:21859171 CHD8 T>C	14	21859171	21859171	T	C	CHD8	c.7117A>G	NM_001170629.2	NP_001164100.1:p.(Lys2373Glu)	NC_000014.8:g.21859171T>C	(Likely) benign	1 lab	a26865f3b0
19:41133005 LTBP4 G>A	19	41133005	41133005	G	A	LTBP4	c.4111G>A	NM_001042545.2	NP_001036010.1:p.(Gly1371Arg)	NC_000019.9:g.41133005G>A	VUS	1 lab	a269d7b93d
2:241725900 KIF1A C>T	2	241725900	241725900	C	T	KIF1A	c.460G>A	NM_001244008.2	NP_001230937.1:p.(Val154Ile)	NC_000002.11:g.241725900C>T	VUS	1 lab	a26c4b60c0
13:20716533 GJA3 G>T	13	20716533	20716533	G	T	GJA3	c.895C>A	NM_021954.4	NP_068773.2:p.(Leu299Met)	NC_000013.10:g.20716533G>T	(Likely) benign	1 lab	279999cc04
20:46279966 NCOA3 G>A	20	46279966	46279966	G	A	NCOA3	c.3892G>A	NM_181659.3	NP_858045.1:p.(Gly1298Arg)	NC_000020.10:g.46279966G>A	VUS	1 lab	a271d012e1
1:156347121 RHBG G>A	1	156347121	156347121	G	A	RHBG	c.217G>A	NM_020407.5	NP_065140.3:p.(Val73Met)	NC_000001.10:g.156347121G>A	VUS	1 lab	a272499135
1:235616407 B3GALNT2 A>G	1	235616407	235616407	A	G	B3GALNT2	c.1363T>C	NM_152490.5	NP_689703.1:p.(Tyr455His)	NC_000001.10:g.235616407A>G	VUS	1 lab	a273f77efe
10:76735849 KAT6B C>T	10	76735849	76735849	C	T	KAT6B	c.1754C>T	NM_012330.4	NP_036462.2:p.(Ala585Val)	NC_000010.10:g.76735849C>T	(Likely) benign	1 lab	a2740e26b6
14:68046585 PLEKHH1 A>G	14	68046585	68046585	A	G	PLEKHH1	c.3175A>G	NM_020715.3	NP_065766.1:p.(Ser1059Gly)	NC_000014.8:g.68046585A>G	VUS	1 lab	a2745452ea
9:134074150 NUP214 G>A	9	134074150	134074150	G	A	NUP214	c.5269G>A	NM_005085.4	NP_005076.3:p.(Gly1757Ser)	NC_000009.11:g.134074150G>A	VUS	1 lab	a27484f2e4
1:197063274 ASPM C>A	1	197063274	197063274	C	A	ASPM	c.9024G>T	NM_018136.5	NP_060606.3:p.(Gln3008His)	NC_000001.10:g.197063274C>A	VUS	1 lab	a275952d1e
16:71411604 CALB2 T>C	16	71411604	71411604	T	C	CALB2	c.296T>C	NM_001740.5	NP_001731.2:p.(Leu99Pro)	NC_000016.9:g.71411604T>C	VUS	1 lab	a2780fcdcb
X:31213810 DMD G>A	X	31213810	31213810	G	A	DMD	c.9807+8268C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31213810G>A	(Likely) benign	1 lab	279ab286fb
3:41266541 CTNNB1 A>T	3	41266541	41266541	A	T	CTNNB1	c.338A>T	NM_001904.4	NP_001895.1:p.(Gln113Leu)	NC_000003.11:g.41266541A>T	VUS	1 lab	a2792c4a47
13:103527667 ERCC5 G>A	13	103527667	103527667	G	A	ERCC5	c.2975G>A	NM_000123.4	NP_000114.3:p.(Arg992Gln)	NC_000013.10:g.103527667G>A	VUS	1 lab	a2796a2bff
6:117245831 RFX6 G>A	6	117245831	117245831	G	A	RFX6	c.1556-1G>A	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117245831G>A	VUS	1 lab	a2951c1efc
7:34192762 BMPER G>C	7	34192762	34192762	G	C	BMPER	c.1935G>C	NM_133468.5	NP_597725.1:p.(Thr645=)	NC_000007.13:g.34192762G>C	(Likely) benign	1 lab	279b7ea534
X:84600970 POF1B G>A	X	84600970	84600970	G	A	POF1B	c.619C>T	NM_024921.4	NP_079197.3:p.(Pro207Ser)	NC_000023.10:g.84600970G>A	(Likely) benign	1 lab	a27d34b330
16:1556979 TELO2 GAGA>G	16	1556979	1556985	GAGA	G	TELO2	c.2157_2159del	NM_016111.4	NP_057195.2:p.(Glu719del)	NC_000016.9:g.1556983_1556985del	VUS	1 lab	a27da4be24
15:34130402 RYR3 A>G	15	34130402	34130402	A	G	RYR3	c.12221A>G	NM_001036.6	NP_001027.3:p.(Asn4074Ser)	NC_000015.9:g.34130402A>G	VUS	1 lab	a27dbd5c7a
1:17314721 ATP13A2 C>T	1	17314721	17314721	C	T	ATP13A2	c.2771G>A	NM_022089.4	NP_071372.1:p.(Arg924His)	NC_000001.10:g.17314721C>T	VUS	1 lab	a27e03c676
12:9020895 A2ML1 A>G	12	9020895	9020895	A	G	A2ML1	c.4003A>G	NM_144670.6	NP_653271.3:p.(Lys1335Glu)	NC_000012.11:g.9020895A>G	VUS	1 lab	a27e3e9779
19:55286830 KIR2DL1 C>T	19	55286830	55286830	C	T	KIR2DL1	c.584C>T	NM_014218.3	NP_055033.2:p.(Thr195Ile)	NC_000019.9:g.55286830C>T	(Likely) benign	1 lab	a28150ddd2
6:26157049 H1-4 C>T	6	26157049	26157049	C	T	H1-4	c.431C>T	NM_005321.3	NP_005312.1:p.(Ala144Val)	NC_000006.11:g.26157049C>T	(Likely) benign	1 lab	a281a13961
2:189860511 COL3A1 A>C	2	189860511	189860511	A	C	COL3A1	c.1603A>C	NM_000090.4	NP_000081.2:p.(Met535Leu)	NC_000002.11:g.189860511A>C	VUS	1 lab	a282fac881
2:179610511 TTN C>G	2	179610511	179610511	C	G	TTN	c.11312-3863G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179610511C>G	VUS	1 lab	a2836c3448
1:150778434 CTSK C>T	1	150778434	150778434	C	T	CTSK	c.302G>A	NM_000396.4	NP_000387.1:p.(Arg101His)	NC_000001.10:g.150778434C>T	(Likely) benign	1 lab	a28375af64
11:18467861 LDHC C>T	11	18467861	18467861	C	T	LDHC	c.815C>T	NM_017448.5	NP_059144.1:p.(Pro272Leu)	NC_000011.9:g.18467861C>T	(Likely) benign	1 lab	a286c7fe41
5:132272841 AFF4 C>T	5	132272841	132272841	C	T	AFF4	c.41G>A	NM_014423.4	NP_055238.1:p.(Arg14Gln)	NC_000005.9:g.132272841C>T	VUS	1 lab	a288dca425
X:83128431 CYLC1 T>C	X	83128431	83128431	T	C	CYLC1	c.715T>C	NM_021118.3	NP_066941.1:p.(Ser239Pro)	NC_000023.10:g.83128431T>C	VUS	1 lab	a28909b98e
15:99251291 IGF1R A>G	15	99251291	99251291	A	G	IGF1R	c.595A>G	NM_000875.5	NP_000866.1:p.(Asn199Asp)	NC_000015.9:g.99251291A>G	(Likely) benign	1 lab	a28aff76a9
16:3634763 SLX4 C>T	16	3634763	3634763	C	T	SLX4	c.4739+7G>A	NM_032444.4	NP_115820.2:p.?	NC_000016.9:g.3634763C>T	(Likely) benign	1 lab	a28c587924
1:220345222 RAB3GAP2 C>T	1	220345222	220345222	C	T	RAB3GAP2	c.2577+9G>A	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220345222C>T	(Likely) benign	1 lab	a28ca333c5
9:13193230 MPDZ G>C	9	13193230	13193230	G	C	MPDZ	c.1739C>G	NM_001378778.1	NP_001365707.1:p.(Ser580Cys)	NC_000009.11:g.13193230G>C	VUS	1 lab	a28dfe5222
14:23858269 MYH6 GGA>G	14	23858269	23858272	GGA	G	MYH6	c.3979-7_3979-6del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271_23858272del	(Likely) benign	1 lab	a28f512ff8
20:1210539 RAD21L1 C>T	20	1210539	1210539	C	T	RAD21L1	c.160C>T	NM_001384355.1	NP_001371284.1:p.(Arg54Ter)	NC_000020.10:g.1210539C>T	VUS	1 lab	a290ccf573
19:5244499 PTPRS G>A	19	5244499	5244499	G	A	PTPRS	c.989-6C>T	NM_002850.4	NP_002841.3:p.?	NC_000019.9:g.5244499G>A	(Likely) benign	1 lab	a29100e969
15:99486171 IGF1R T>C	15	99486171	99486171	T	C	IGF1R	c.3477T>C	NM_000875.5	NP_000866.1:p.(Asp1159=)	NC_000015.9:g.99486171T>C	(Likely) benign	1 lab	a292366721
11:6867635 OR10A5 C>T	11	6867635	6867635	C	T	OR10A5	c.722C>T	NM_178168.1	NP_835462.1:p.(Thr241Met)	NC_000011.9:g.6867635C>T	(Likely) benign	1 lab	a292cfc9ac
12:106889928 POLR3B C>T	12	106889928	106889928	C	T	POLR3B	c.2809C>T	NM_018082.6	NP_060552.4:p.(Arg937Ter)	NC_000012.11:g.106889928C>T	(Likely) pathogenic	1 lab	a292eb6b52
6:90577352 CASP8AP2 C>T	6	90577352	90577352	C	T	CASP8AP2	c.4343C>T	NM_001137667.2	NP_001131139.1:p.(Ser1448Leu)	NC_000006.11:g.90577352C>T	VUS	1 lab	a293a00243
1:61872232 NFIA A>C	1	61872232	61872232	A	C	NFIA	c.1255-2A>C	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872232A>C	(Likely) benign	1 lab	a29645e4b6
1:220152964 EPRS1 TAGAG>T	1	220152964	220152973	TAGAG	T	EPRS1	c.3712-11_3712-8del	NM_004446.3	NP_004437.2:p.?	NC_000001.10:g.220152970_220152973del	(Likely) benign	1 lab	a296463630
21:35122558 ITSN1 G>A	21	35122558	35122558	G	A	ITSN1	c.457G>A	NM_003024.3	NP_003015.2:p.(Ala153Thr)	NC_000021.8:g.35122558G>A	VUS	1 lab	a2981842cc
15:89395171 ACAN G>T	15	89395171	89395171	G	T	ACAN	c.2173G>T	NM_001369268.1	NP_001356197.1:p.(Glu725Ter)	NC_000015.9:g.89395171G>T	(Likely) pathogenic	1 lab	a29c8c800a
X:27999354 DCAF8L1 G>T	X	27999354	27999354	G	T	DCAF8L1	c.98C>A	NM_001017930.2	NP_001017930.1:p.(Thr33Lys)	NC_000023.10:g.27999354G>T	(Likely) benign	1 lab	a29d156f39
2:152404248 NEB A>G	2	152404248	152404248	A	G	NEB	c.20162T>C	NM_001164508.2	NP_001157980.2:p.(Leu6721Pro)	NC_000002.11:g.152404248A>G	VUS	1 lab	a29e9cb014
11:17416770 ABCC8 G>A	11	17416770	17416770	G	A	ABCC8	c.4360C>T	NM_000352.6	NP_000343.2:p.(Leu1454=)	NC_000011.9:g.17416770G>A	(Likely) benign	1 lab	a29ec6f949
10:127484674 UROS G>C	10	127484674	127484674	G	C	UROS	c.559C>G	NM_000375.3	NP_000366.1:p.(Gln187Glu)	NC_000010.10:g.127484674G>C	VUS	1 lab	a29ecaba01
15:89401923 ACAN T>G	15	89401923	89401923	T	G	ACAN	c.6107T>G	NM_001369268.1	NP_001356197.1:p.(Leu2036Ter)	NC_000015.9:g.89401923T>G	(Likely) pathogenic	1 lab	a29f7b93c4
2:73800472 ALMS1 G>A	2	73800472	73800472	G	A	ALMS1	c.11468G>A	NM_001378454.1	NP_001365383.1:p.(Arg3823Gln)	NC_000002.11:g.73800472G>A	(Likely) benign	1 lab	a29f801cdb
15:89867379 POLG C>G	15	89867379	89867379	C	G	POLG	c.2029G>C	NM_002693.3	NP_002684.1:p.(Glu677Gln)	NC_000015.9:g.89867379C>G	VUS	1 lab	a2a02a5686
6:19838205 ID4 C>T	6	19838205	19838205	C	T	ID4	c.220C>T	NM_001546.4	NP_001537.1:p.(Arg74Cys)	NC_000006.11:g.19838205C>T	VUS	1 lab	a2a062e1f3
13:103510637 ERCC5 C>T	13	103510637	103510637	C	T	ERCC5	c.541C>T	NM_000123.4	NP_000114.3:p.(His181Tyr)	NC_000013.10:g.103510637C>T	VUS	1 lab	a2a0da613b
12:122261187 SETD1B C>T	12	122261187	122261187	C	T	SETD1B	c.4702C>T	NM_001353345.2	NP_001340274.1:p.(Arg1568Trp)	NC_000012.11:g.122261187C>T	(Likely) benign	1 lab	a2a2e17d06
11:4109932 STIM1 A>T	11	4109932	4109932	A	T	STIM1	c.1634+2159A>T	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4109932A>T	(Likely) benign	1 lab	a2a48ab61e
9:32986019 APTX C>A	9	32986019	32986019	C	A	APTX	c.493G>T	NM_001195248.2	NP_001182177.2:p.(Gly165Cys)	NC_000009.11:g.32986019C>A	VUS	1 lab	a2a5163a88
15:64648177 CSNK1G1 G>A	15	64648177	64648177	G	A	CSNK1G1	c.-225+10C>T	NM_022048.5	NP_071331.2:p.?	NC_000015.9:g.64648177G>A	(Likely) benign	1 lab	a2a62ad0fb
2:219920328 IHH C>T	2	219920328	219920328	C	T	IHH	c.837G>A	NM_002181.4	NP_002172.2:p.(Thr279=)	NC_000002.11:g.219920328C>T	VUS	1 lab	a2a729aacd
7:14880815 DGKB T>C	7	14880815	14880815	T	C	DGKB	c.70+4A>G	NM_001350709.2	NP_001337638.1:p.?	NC_000007.13:g.14880815T>C	(Likely) benign	1 lab	a2a82341ae
3:31621439 STT3B C>T	3	31621439	31621439	C	T	STT3B	c.562C>T	NM_178862.3	NP_849193.1:p.(Leu188Phe)	NC_000003.11:g.31621439C>T	VUS	1 lab	a2a8a6f800
19:42265158 CEACAM6 G>A	19	42265158	42265158	G	A	CEACAM6	c.426G>A	NM_002483.7	NP_002474.4:p.(Pro142=)	NC_000019.9:g.42265158G>A	VUS	1 lab	a2a9173614
8:144887002 SCRIB G>A	8	144887002	144887002	G	A	SCRIB	c.2752-7C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144887002G>A	(Likely) benign	1 lab	a2a96c3d0a
X:11133069 HCCS C>T	X	11133069	11133069	C	T	HCCS	c.215C>T	NM_005333.5	NP_005324.3:p.(Ala72Val)	NC_000023.10:g.11133069C>T	(Likely) benign	1 lab	a2a99c3821
X:53600726 HUWE1 G>C	X	53600726	53600726	G	C	HUWE1	c.6296C>G	NM_031407.7	NP_113584.3:p.(Ser2099Cys)	NC_000023.10:g.53600726G>C	VUS	1 lab	a2aa086b80
15:45695301 AFG2B C>T	15	45695301	45695301	C	T	AFG2B	c.674C>T	NM_024063.3	NP_076968.2:p.(Ala225Val)	NC_000015.9:g.45695301C>T	VUS	1 lab	a2aa1da05c
2:220077135 ABCB6 G>A	2	220077135	220077135	G	A	ABCB6	c.1942C>T	NM_005689.4	NP_005680.1:p.(Arg648Ter)	NC_000002.11:g.220077135G>A	VUS	1 lab	a2aa2da72b
7:82581276 PCLO T>C	7	82581276	82581276	T	C	PCLO	c.8993A>G	NM_033026.6	NP_149015.2:p.(Asn2998Ser)	NC_000007.13:g.82581276T>C	(Likely) benign	1 lab	a2aca673c0
12:99053034 APAF1 A>G	12	99053034	99053034	A	G	APAF1	c.623A>G	NM_181861.2	NP_863651.1:p.(Gln208Arg)	NC_000012.11:g.99053034A>G	VUS	1 lab	a2adb3c271
2:204009459 NBEAL1 A>T	2	204009459	204009459	A	T	NBEAL1	c.4985A>T	NM_001378026.1	NP_001364955.1:p.(Tyr1662Phe)	NC_000002.11:g.204009459A>T	(Likely) benign	1 lab	a2b19ef1f4
11:68133160 LRP5 G>A	11	68133160	68133160	G	A	LRP5	c.1005G>A	NM_002335.4	NP_002326.2:p.(Thr335=)	NC_000011.9:g.68133160G>A	(Likely) benign	1 lab	a2b2b0f6af
6:152646213 SYNE1 A>G	6	152646213	152646213	A	G	SYNE1	c.15657+6T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152646213A>G	(Likely) benign	1 lab	a2b31376d8
3:49062387 IMPDH2 C>T	3	49062387	49062387	C	T	IMPDH2	c.1237G>A	NM_000884.3	NP_000875.2:p.(Gly413Ser)	NC_000003.11:g.49062387C>T	VUS	1 lab	a2b41c6b56
17:36093655 HNF1B C>T	17	36093655	36093655	C	T	HNF1B	c.704G>A	NM_000458.4	NP_000449.1:p.(Arg235Gln)	NC_000017.10:g.36093655C>T	(Likely) pathogenic	1 lab	a2b5a87ffe
6:102307205 GRIK2 A>G	6	102307205	102307205	A	G	GRIK2	c.1361A>G	NM_021956.5	NP_068775.1:p.(Tyr454Cys)	NC_000006.11:g.102307205A>G	VUS	1 lab	a2b6598904
1:120569970 NOTCH2 G>A	1	120569970	120569970	G	A	NOTCH2	c.155+2559C>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120569970G>A	(Likely) benign	1 lab	a2b73e6cb6
14:20848415 TEP1 C>T	14	20848415	20848415	C	T	TEP1	c.4982G>A	NM_007110.5	NP_009041.2:p.(Arg1661Gln)	NC_000014.8:g.20848415C>T	(Likely) benign	1 lab	a2b899702b
9:139407526 NOTCH1 G>A	9	139407526	139407526	G	A	NOTCH1	c.2414C>T	NM_017617.5	NP_060087.3:p.(Thr805Met)	NC_000009.11:g.139407526G>A	VUS	1 lab	a2ba0f10d9
19:4543906 SEMA6B G>C	19	4543906	4543906	G	C	SEMA6B	c.2374C>G	NM_032108.4	NP_115484.2:p.(His792Asp)	NC_000019.9:g.4543906G>C	(Likely) benign	1 lab	a2ba1feb0a
X:47004861 RBM10 T>C	X	47004861	47004861	T	C	RBM10	c.-149T>C	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47004861T>C	(Likely) benign	1 lab	a2bacb66cd
6:44103069 TMEM63B C>T	6	44103069	44103069	C	T	TMEM63B	c.244C>T	NM_018426.3	NP_060896.1:p.(Arg82Trp)	NC_000006.11:g.44103069C>T	(Likely) benign	1 lab	a2bb04b98d
3:139078167 COPB2 G>A	3	139078167	139078167	G	A	COPB2	c.2248C>T	NM_004766.3	NP_004757.1:p.(Arg750Trp)	NC_000003.11:g.139078167G>A	VUS	1 lab	a2bc528807
20:34785889 EPB41L1 T>G	20	34785889	34785889	T	G	EPB41L1	c.1594T>G	NM_012156.2	NP_036288.2:p.(Trp532Gly)	NC_000020.10:g.34785889T>G	(Likely) benign	1 lab	a2bd43456e
9:135946547 CEL C>T	9	135946547	135946547	C	T	CEL	c.1658C>T	NM_001807.6	NP_001798.3:p.(Thr553Ile)	NC_000009.11:g.135946547C>T	(Likely) benign	1 lab	a2bda7af8f
13:48807588 ITM2B C>A	13	48807588	48807588	C	A	ITM2B	c.92C>A	NM_021999.5	NP_068839.1:p.(Pro31His)	NC_000013.10:g.48807588C>A	(Likely) benign	1 lab	a2bdb025a4
6:143081591 HIVEP2 G>A	6	143081591	143081591	G	A	HIVEP2	c.5834C>T	NM_006734.4	NP_006725.3:p.(Ser1945Phe)	NC_000006.11:g.143081591G>A	VUS	1 lab	279eb417ab
15:48720584 FBN1 T>C	15	48720584	48720584	T	C	FBN1	c.6956A>G	NM_000138.5	NP_000129.3:p.(Asn2319Ser)	NC_000015.9:g.48720584T>C	(Likely) benign	1 lab	a2be912d54
1:181702808 CACNA1E A>G	1	181702808	181702808	A	G	CACNA1E	c.3184A>G	NM_001205293.3	NP_001192222.1:p.(Lys1062Glu)	NC_000001.10:g.181702808A>G	VUS	1 lab	a2bed399a7
1:201353915 LAD1 C>G	1	201353915	201353915	C	G	LAD1	c.1175+5G>C	NM_005558.4	NP_005549.2:p.?	NC_000001.10:g.201353915C>G	(Likely) benign	1 lab	a2bf40c9f3
19:40748487 AKT2 G>A	19	40748487	40748487	G	A	AKT2	c.395C>T	NM_001626.6	NP_001617.1:p.(Thr132Met)	NC_000019.9:g.40748487G>A	(Likely) benign	1 lab	a2bf9463e3
12:103288672 PAH T>C	12	103288672	103288672	T	C	PAH	c.193A>G	NM_000277.3	NP_000268.1:p.(Ile65Val)	NC_000012.11:g.103288672T>C	(Likely) pathogenic	1 lab	a2c0af6f5b
16:88803157 PIEZO1 G>A	16	88803157	88803157	G	A	PIEZO1	c.1196-10C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88803157G>A	(Likely) benign	1 lab	a2c12a17f3
11:65393468 PCNX3 T>C	11	65393468	65393468	T	C	PCNX3	c.3322T>C	NM_032223.4	NP_115599.2:p.(Phe1108Leu)	NC_000011.9:g.65393468T>C	VUS	1 lab	a2c1303f7a
17:35804856 TADA2A C>T	17	35804856	35804856	C	T	TADA2A	c.590C>T	NM_001166105.3	NP_001159577.2:p.(Ser197Leu)	NC_000017.10:g.35804856C>T	VUS	1 lab	a2c3c72851
12:56815933 TIMELESS C>G	12	56815933	56815933	C	G	TIMELESS	c.2481G>C	NM_003920.5	NP_003911.2:p.(Glu827Asp)	NC_000012.11:g.56815933C>G	(Likely) benign	1 lab	a2c451d7ad
17:56272476 EPX C>A	17	56272476	56272476	C	A	EPX	c.746C>A	NM_000502.6	NP_000493.1:p.(Ala249Glu)	NC_000017.10:g.56272476C>A	(Likely) benign	1 lab	a2c549012c
16:89347677 ANKRD11 G>A	16	89347677	89347677	G	A	ANKRD11	c.5273C>T	NM_013275.6	NP_037407.4:p.(Pro1758Leu)	NC_000016.9:g.89347677G>A	VUS	1 lab	a2c5ba9dc8
9:6504634 UHRF2 C>T	9	6504634	6504634	C	T	UHRF2	c.2205C>T	NM_152896.3	NP_690856.1:p.(Cys735=)	NC_000009.11:g.6504634C>T	VUS	1 lab	a2c6f471ce
22:51133417 SHANK3 C>T	22	51133417	51133417	C	T	SHANK3	c.1470C>T	NM_001372044.2	NP_001358973.1:p.(Ala490=)	NC_000022.10:g.51133417C>T	(Likely) benign	1 lab	a2c91259ed
17:11502116 DNAH9 C>CT	17	11502116	11502123	C	CT	DNAH9	c.308dup	NM_001372.4	NP_001363.2:p.(Leu104ProfsTer45)	NC_000017.10:g.11502123dup	(Likely) pathogenic	1 lab	a2c96fd7c7
19:34925773 UBA2 C>G	19	34925773	34925773	C	G	UBA2	c.359C>G	NM_005499.3	NP_005490.1:p.(Ala120Gly)	NC_000019.9:g.34925773C>G	VUS	1 lab	a2cbafd641
6:43519174 XPO5 T>C	6	43519174	43519174	T	C	XPO5	c.1589A>G	NM_020750.3	NP_065801.1:p.(Asp530Gly)	NC_000006.11:g.43519174T>C	(Likely) benign	1 lab	2909229eea
7:44148738 AEBP1 G>A	7	44148738	44148738	G	A	AEBP1	c.1051G>A	NM_001129.5	NP_001120.3:p.(Glu351Lys)	NC_000007.13:g.44148738G>A	VUS	1 lab	a2cea5eeaf
22:24158976 SMARCB1 G>A	22	24158976	24158976	G	A	SMARCB1	c.648G>A	NM_003073.5	NP_003064.2:p.(Glu216=)	NC_000022.10:g.24158976G>A	(Likely) benign	1 lab	a2cf4623a0
6:149699617 TAB2 G>A	6	149699617	149699617	G	A	TAB2	c.566G>A	NM_001292034.3	NP_001278963.1:p.(Arg189His)	NC_000006.11:g.149699617G>A	VUS	1 lab	a2cff5059a
3:147121893 ZIC4 G>A	3	147121893	147121893	G	A	ZIC4	c.-15-1294C>T	NM_032153.6	NP_115529.2:p.?	NC_000003.11:g.147121893G>A	(Likely) benign	1 lab	a2d0c1cdb3
2:160242883 BAZ2B C>T	2	160242883	160242883	C	T	BAZ2B	c.3452G>A	NM_013450.4	NP_038478.2:p.(Gly1151Asp)	NC_000002.11:g.160242883C>T	VUS	1 lab	a2d0ca5c0d
X:24024129 KLHL15 T>A	X	24024129	24024129	T	A	KLHL15	c.682A>T	NM_030624.3	NP_085127.2:p.(Thr228Ser)	NC_000023.10:g.24024129T>A	VUS	1 lab	a2d0d61ebb
9:2039581 SMARCA2 C>G	9	2039581	2039581	C	G	SMARCA2	c.471C>G	NM_003070.5	NP_003061.3:p.(Ile157Met)	NC_000009.11:g.2039581C>G	VUS	1 lab	a2d3958e36
14:24650715 IPO4 T>C	14	24650715	24650715	T	C	IPO4	c.3045+4A>G	NM_024658.4	NP_078934.3:p.?	NC_000014.8:g.24650715T>C	(Likely) benign	1 lab	a2d421d41f
21:34922935 SON A>T	21	34922935	34922935	A	T	SON	c.1398A>T	NM_138927.2	NP_620305.2:p.(Pro466=)	NC_000021.8:g.34922935A>T	(Likely) benign	1 lab	2909cbc8c3
12:93966693 SOCS2 A>G	12	93966693	93966693	A	G	SOCS2	c.20A>G	NM_001270471.2	NP_001257400.1:p.(Glu7Gly)	NC_000012.11:g.93966693A>G	(Likely) benign	1 lab	a2d5812f97
3:51378717 DOCK3 C>G	3	51378717	51378717	C	G	DOCK3	c.3816C>G	NM_004947.5	NP_004938.1:p.(Asp1272Glu)	NC_000003.11:g.51378717C>G	(Likely) benign	1 lab	279fc5f8fe
20:57480546 GNAS G>A	20	57480546	57480546	G	A	GNAS	c.530+11G>A	NM_000516.7	NP_000507.1:p.?	NC_000020.10:g.57480546G>A	(Likely) benign	1 lab	a2d7930c2a
16:2161839 PKD1 G>A	16	2161839	2161839	G	A	PKD1	c.3329C>T	NM_001009944.3	NP_001009944.3:p.(Ala1110Val)	NC_000016.9:g.2161839G>A	VUS	1 lab	a2db86d43d
6:31513212 ATP6V1G2 G>T	6	31513212	31513212	G	T	ATP6V1G2	c.330C>A	NM_130463.4	NP_569730.1:p.(Val110=)	NC_000006.11:g.31513212G>T	VUS	1 lab	a2dbce375a
9:135940599 CEL C>T	9	135940599	135940599	C	T	CEL	c.513C>T	NM_001807.6	NP_001798.3:p.(Leu171=)	NC_000009.11:g.135940599C>T	(Likely) benign	1 lab	a2dc29a846
3:184070585 CLCN2 C>T	3	184070585	184070585	C	T	CLCN2	c.2157G>A	NM_004366.6	NP_004357.3:p.(Ser719=)	NC_000003.11:g.184070585C>T	(Likely) benign	1 lab	a2dd85d90a
8:27326840 CHRNA2 G>GA	8	27326840	27326841	G	GA	CHRNA2	c.339+11_339+12insT	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27326840_27326841insA	(Likely) benign	1 lab	290a43c81c
X:140994813 MAGEC1 C>G	X	140994813	140994813	C	G	MAGEC1	c.1623C>G	NM_005462.5	NP_005453.2:p.(Asp541Glu)	NC_000023.10:g.140994813C>G	(Likely) benign	1 lab	a2def0f7db
5:36972056 NIPBL T>G	5	36972056	36972056	T	G	NIPBL	c.781T>G	NM_133433.4	NP_597677.2:p.(Ser261Ala)	NC_000005.9:g.36972056T>G	(Likely) benign	1 lab	a2df2a2fee
15:99434713 IGF1R A>C	15	99434713	99434713	A	C	IGF1R	c.800A>C	NM_000875.5	NP_000866.1:p.(Asn267Thr)	NC_000015.9:g.99434713A>C	VUS	1 lab	a2df508049
5:151784448 NMUR2 A>C	5	151784448	151784448	A	C	NMUR2	c.227T>G	NM_020167.5	NP_064552.3:p.(Met76Arg)	NC_000005.9:g.151784448A>C	VUS	1 lab	a2e120a951
4:88536999 DSPP A>ACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGG	4	88536999	88537035	A	ACAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTGG	DSPP	c.3220_3221insGCAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTG	NM_014208.3	NP_055023.2:p.(Ser1073_Asp1074insGlySerSerAspSerSerAspSerSerAspSerSer)	NC_000004.11:g.88537034_88537035insGCAGCAGCGACAGCAGTGATAGCAGTGACAGCAGTG	(Likely) benign	1 lab	a2e15d163e
X:153578112 FLNA G>A	X	153578112	153578112	G	A	FLNA	c.7457C>T	NM_001110556.2	NP_001104026.1:p.(Thr2486Ile)	NC_000023.10:g.153578112G>A	VUS	1 lab	a2e3cdc829
9:101907083 TGFBR1 G>A	9	101907083	101907083	G	A	TGFBR1	c.1043G>A	NM_004612.4	NP_004603.1:p.(Cys348Tyr)	NC_000009.11:g.101907083G>A	(Likely) pathogenic	1 lab	a2e5b55d90
7:193401 FAM20C G>T	7	193401	193401	G	T	FAM20C	c.202G>T	NM_020223.4	NP_064608.2:p.(Gly68Trp)	NC_000007.13:g.193401G>T	VUS	1 lab	a2e6d29ed3
14:92499601 TRIP11 C>T	14	92499601	92499601	C	T	TRIP11	c.140-4G>A	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92499601C>T	(Likely) benign	1 lab	a2e9861558
6:110056500 FIG4 C>T	6	110056500	110056500	C	T	FIG4	c.645C>T	NM_014845.6	NP_055660.1:p.(Ser215=)	NC_000006.11:g.110056500C>T	(Likely) benign	1 lab	a2ea73752f
7:152107976 KMT2C C>G	7	152107976	152107976	C	G	KMT2C	c.161+24735G>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152107976C>G	(Likely) benign	1 lab	a2eb6f055d
2:130897839 CCDC74B G>A	2	130897839	130897839	G	A	CCDC74B	c.591C>T	NM_001258307.2	NP_001245236.1:p.(Pro197=)	NC_000002.11:g.130897839G>A	VUS	1 lab	a2ec5bc615
X:106224137 MORC4 T>A	X	106224137	106224137	T	A	MORC4	c.920A>T	NM_024657.5	NP_078933.3:p.(Tyr307Phe)	NC_000023.10:g.106224137T>A	(Likely) benign	1 lab	a2edf0b0a7
7:100280325 GIGYF1 T>A	7	100280325	100280325	T	A	GIGYF1	c.2488A>T	NM_001375765.1	NP_001362694.1:p.(Lys830Ter)	NC_000007.13:g.100280325T>A	VUS	1 lab	a2ef5dcef4
17:78261749 RNF213 C>A	17	78261749	78261749	C	A	RNF213	c.397C>A	NM_001256071.3	NP_001243000.2:p.(Leu133Met)	NC_000017.10:g.78261749C>A	(Likely) benign	1 lab	a2efedd6c8
7:151078696 WDR86 CA>C	7	151078696	151078697	CA	C	WDR86	c.1102del	NM_198285.3	NP_938026.2:p.(Cys368AlafsTer84)	NC_000007.13:g.151078697del	VUS	1 lab	a2f04aa697
9:35801994 NPR2 C>T	9	35801994	35801994	C	T	NPR2	c.1629C>T	NM_003995.4	NP_003986.2:p.(Phe543=)	NC_000009.11:g.35801994C>T	(Likely) benign	1 lab	a2f0ae8953
X:74698827 ZDHHC15 TA>T	X	74698827	74698837	TA	T	ZDHHC15	c.164-8del	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74698837del	(Likely) benign	1 lab	a2f53f42a9
19:39998886 DLL3 T>G	19	39998886	39998886	T	G	DLL3	c.1759-6T>G	NM_203486.3	NP_982353.1:p.?	NC_000019.9:g.39998886T>G	VUS	1 lab	a2f58899ab
X:102334396 NXF3 C>T	X	102334396	102334396	C	T	NXF3	c.1226G>A	NM_022052.2	NP_071335.1:p.(Arg409Gln)	NC_000023.10:g.102334396C>T	VUS	1 lab	a2f646a54c
14:102452082 DYNC1H1 T>C	14	102452082	102452082	T	C	DYNC1H1	c.1520T>C	NM_001376.5	NP_001367.2:p.(Val507Ala)	NC_000014.8:g.102452082T>C	VUS	1 lab	a2f79805a7
15:34064356 RYR3 C>A	15	34064356	34064356	C	A	RYR3	c.9052C>A	NM_001036.6	NP_001027.3:p.(Leu3018Ile)	NC_000015.9:g.34064356C>A	(Likely) benign	1 lab	a2f918b6fb
18:2922055 LPIN2 C>T	18	2922055	2922055	C	T	LPIN2	c.2317G>A	NM_001375808.2	NP_001362737.1:p.(Ala773Thr)	NC_000018.9:g.2922055C>T	VUS	1 lab	a2f94284f1
2:173338939 ITGA6 G>A	2	173338939	173338939	G	A	ITGA6	c.932G>A	NM_000210.4	NP_000201.2:p.(Gly311Asp)	NC_000002.11:g.173338939G>A	VUS	1 lab	a2f9a96269
5:13786383 DNAH5 G>A	5	13786383	13786383	G	A	DNAH5	c.8725C>T	NM_001369.3	NP_001360.1:p.(Arg2909Cys)	NC_000005.9:g.13786383G>A	VUS	1 lab	a2faf6e6d4
3:129238526 IFT122 G>A	3	129238526	129238526	G	A	IFT122	c.3587G>A	NM_052989.3	NP_443715.1:p.(Arg1196His)	NC_000003.11:g.129238526G>A	VUS	1 lab	a2fb023d7f
19:13325398 CACNA1A T>A	19	13325398	13325398	T	A	CACNA1A	c.5756A>T	NM_001127222.2	NP_001120694.1:p.(Asp1919Val)	NC_000019.9:g.13325398T>A	VUS	1 lab	a2fd00dba7
1:24194648 FUCA1 G>C	1	24194648	24194648	G	C	FUCA1	c.129C>G	NM_000147.5	NP_000138.2:p.(Ser43Arg)	NC_000001.10:g.24194648G>C	VUS	1 lab	a2fd65f885
18:33795732 MOCOS C>T	18	33795732	33795732	C	T	MOCOS	c.1589C>T	NM_017947.4	NP_060417.4:p.(Ser530Leu)	NC_000018.9:g.33795732C>T	(Likely) benign	1 lab	290d2b41bf
2:228786167 DAW1 C>T	2	228786167	228786167	C	T	DAW1	c.1103C>T	NM_178821.3	NP_849143.1:p.(Thr368Met)	NC_000002.11:g.228786167C>T	VUS	1 lab	a2fe101a95
16:90020721 DEF8 C>T	16	90020721	90020721	C	T	DEF8	c.61C>T	NM_001242818.2	NP_001229747.1:p.(Gln21Ter)	NC_000016.9:g.90020721C>T	VUS	1 lab	a2fee5141a
16:30748712 SRCAP C>T	16	30748712	30748712	C	T	SRCAP	c.7351C>T	NM_006662.3	NP_006653.2:p.(Pro2451Ser)	NC_000016.9:g.30748712C>T	VUS	1 lab	a30029b25e
11:124746195 ROBO3 G>T	11	124746195	124746195	G	T	ROBO3	c.2618G>T	NM_022370.4	NP_071765.2:p.(Gly873Val)	NC_000011.9:g.124746195G>T	VUS	1 lab	a30075bd13
9:138678163 KCNT1 G>A	9	138678163	138678163	G	A	KCNT1	c.3298G>A	NM_020822.3	NP_065873.2:p.(Ala1100Thr)	NC_000009.11:g.138678163G>A	(Likely) benign	1 lab	a300cd6b4d
7:40174104 MPLKIP C>G	7	40174104	40174104	C	G	MPLKIP	c.63G>C	NM_138701.4	NP_619646.1:p.(Trp21Cys)	NC_000007.13:g.40174104C>G	VUS	1 lab	a301b50dbc
1:181767221 CACNA1E A>C	1	181767221	181767221	A	C	CACNA1E	c.6400-207A>C	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181767221A>C	(Likely) benign	1 lab	a3023c2622
13:35782821 NBEA C>T	13	35782821	35782821	C	T	NBEA	c.5367-16C>T	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.35782821C>T	(Likely) benign	1 lab	290f1cf7ba
15:25616719 UBE3A T>C	15	25616719	25616719	T	C	UBE3A	c.602A>G	NM_130839.5	NP_570854.1:p.(Glu201Gly)	NC_000015.9:g.25616719T>C	(Likely) benign	1 lab	a3039feae8
11:118373760 KMT2A C>T	11	118373760	118373760	C	T	KMT2A	c.7153C>T	NM_001197104.2	NP_001184033.1:p.(His2385Tyr)	NC_000011.9:g.118373760C>T	VUS	1 lab	a3041c6fdd
7:91863751 KRIT1 T>C	7	91863751	91863751	T	C	KRIT1	c.989+12A>G	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91863751T>C	(Likely) benign	1 lab	a30440e313
12:122247782 SETD1B C>T	12	122247782	122247782	C	T	SETD1B	c.931C>T	NM_001353345.2	NP_001340274.1:p.(Arg311Trp)	NC_000012.11:g.122247782C>T	(Likely) benign	1 lab	a309839d5d
2:148701093 ORC4 T>A	2	148701093	148701093	T	A	ORC4	c.763-2A>T	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701093T>A	(Likely) benign	1 lab	a30d01ea97
4:1803404 FGFR3 A>C	4	1803404	1803404	A	C	FGFR3	c.673A>C	NM_000142.5	NP_000133.1:p.(Asn225His)	NC_000004.11:g.1803404A>C	VUS	1 lab	a30d6aa929
2:179640713 TTN C>T	2	179640713	179640713	C	T	TTN	c.5878G>A	NM_001267550.2	NP_001254479.2:p.(Glu1960Lys)	NC_000002.11:g.179640713C>T	VUS	1 lab	a30fda400c
X:70469321 ZMYM3 G>A	X	70469321	70469321	G	A	ZMYM3	c.1460C>T	NM_201599.3	NP_963893.1:p.(Ala487Val)	NC_000023.10:g.70469321G>A	VUS	1 lab	a3103b992f
20:17240922 PCSK2 A>C	20	17240922	17240922	A	C	PCSK2	c.215A>C	NM_002594.5	NP_002585.2:p.(Asn72Thr)	NC_000020.10:g.17240922A>C	(Likely) benign	1 lab	a3117e826c
1:11918817 NPPB C>A	1	11918817	11918817	C	A	NPPB	c.74G>T	NM_002521.3	NP_002512.1:p.(Arg25Leu)	NC_000001.10:g.11918817C>A	(Likely) benign	1 lab	a31613b371
2:112545907 ANAPC1 A>T	2	112545907	112545907	A	T	ANAPC1	c.4713-10T>A	NM_022662.4	NP_073153.1:p.?	NC_000002.11:g.112545907A>T	(Likely) benign	1 lab	a3163a61f8
1:152278852 FLG G>C	1	152278852	152278852	G	C	FLG	c.8510C>G	NM_002016.2	NP_002007.1:p.(Ala2837Gly)	NC_000001.10:g.152278852G>C	(Likely) benign	1 lab	a317e4171b
22:43619184 SCUBE1 G>A	22	43619184	43619184	G	A	SCUBE1	c.1246C>T	NM_173050.5	NP_766638.2:p.(Arg416Trp)	NC_000022.10:g.43619184G>A	(Likely) benign	1 lab	a31ba49c26
11:111636970 PPP2R1B A>G	11	111636970	111636970	A	G	PPP2R1B	c.114+2T>C	NM_002716.5	NP_002707.3:p.?	NC_000011.9:g.111636970A>G	VUS	1 lab	a31bb226a2
2:149243325 MBD5 A>G	2	149243325	149243325	A	G	MBD5	c.3559A>G	NM_001378120.1	NP_001365049.1:p.(Ile1187Val)	NC_000002.11:g.149243325A>G	VUS	1 lab	a31d15cfb9
11:105623869 GRIA4 C>T	11	105623869	105623869	C	T	GRIA4	c.410C>T	NM_000829.4	NP_000820.4:p.(Ser137Leu)	NC_000011.9:g.105623869C>T	VUS	1 lab	a31e4399cf
17:36064933 HNF1B T>G	17	36064933	36064933	T	G	HNF1B	c.1330A>C	NM_000458.4	NP_000449.1:p.(Ile444Leu)	NC_000017.10:g.36064933T>G	VUS	1 lab	a31e56ad6b
2:220283591 DES T>A	2	220283591	220283591	T	A	DES	c.407T>A	NM_001927.4	NP_001918.3:p.(Leu136His)	NC_000002.11:g.220283591T>A	VUS	1 lab	a31ea7cdb4
9:135940582 CEL G>A	9	135940582	135940582	G	A	CEL	c.496G>A	NM_001807.6	NP_001798.3:p.(Gly166Ser)	NC_000009.11:g.135940582G>A	VUS	1 lab	a321dae6b2
19:12768936 MAN2B1 G>C	19	12768936	12768936	G	C	MAN2B1	c.1250C>G	NM_000528.4	NP_000519.2:p.(Ala417Gly)	NC_000019.9:g.12768936G>C	(Likely) benign	1 lab	a32301695c
11:35344107 SLC1A2 C>T	11	35344107	35344107	C	T	SLC1A2	c.18-5044G>A	NM_004171.4	NP_004162.2:p.?	NC_000011.9:g.35344107C>T	(Likely) benign	1 lab	a323786366
16:88799702 PIEZO1 G>C	16	88799702	88799702	G	C	PIEZO1	c.2648C>G	NM_001142864.4	NP_001136336.2:p.(Ser883Cys)	NC_000016.9:g.88799702G>C	(Likely) benign	1 lab	a3241ba769
5:1272381 TERT T>C	5	1272381	1272381	T	C	TERT	c.2301A>G	NM_198253.3	NP_937983.2:p.(Thr767=)	NC_000005.9:g.1272381T>C	(Likely) benign	1 lab	a3246325a1
6:1612243 FOXC1 T>G	6	1612243	1612243	T	G	FOXC1	c.1563T>G	NM_001453.3	NP_001444.2:p.(Ser521=)	NC_000006.11:g.1612243T>G	(Likely) benign	1 lab	a324b50111
6:33409474 SYNGAP1 GC>G	6	33409474	33409476	GC	G	SYNGAP1	c.2234del	NM_006772.3	NP_006763.2:p.(Pro745LeufsTer15)	NC_000006.11:g.33409476del	(Likely) pathogenic	1 lab	27a26fa1e5
9:139417332 NOTCH1 C>T	9	139417332	139417332	C	T	NOTCH1	c.712G>A	NM_017617.5	NP_060087.3:p.(Asp238Asn)	NC_000009.11:g.139417332C>T	VUS	1 lab	a32618a1ee
2:179577553 TTN C>T	2	179577553	179577553	C	T	TTN	c.27199G>A	NM_001267550.2	NP_001254479.2:p.(Val9067Met)	NC_000002.11:g.179577553C>T	VUS	1 lab	a3264f9804
14:105241307 AKT1 C>T	14	105241307	105241307	C	T	AKT1	c.601G>A	NM_001382430.1	NP_001369359.1:p.(Val201Ile)	NC_000014.8:g.105241307C>T	VUS	1 lab	a326bcade7
X:118986840 UPF3B T>G	X	118986840	118986840	T	G	UPF3B	c.52A>C	NM_080632.3	NP_542199.1:p.(Thr18Pro)	NC_000023.10:g.118986840T>G	VUS	1 lab	a327a06e22
14:52507501 NID2 T>C	14	52507501	52507501	T	C	NID2	c.1894A>G	NM_007361.4	NP_031387.3:p.(Thr632Ala)	NC_000014.8:g.52507501T>C	VUS	1 lab	a3280437cf
22:40805731 SGSM3 C>T	22	40805731	40805731	C	T	SGSM3	c.2218C>T	NM_015705.6	NP_056520.2:p.(His740Tyr)	NC_000022.10:g.40805731C>T	VUS	1 lab	a3281e6322
13:77759491 MYCBP2 T>C	13	77759491	77759491	T	C	MYCBP2	c.4466A>G	NM_015057.5	NP_055872.4:p.(Glu1489Gly)	NC_000013.10:g.77759491T>C	VUS	1 lab	a328e9cf86
9:35800749 NPR2 C>T	9	35800749	35800749	C	T	NPR2	c.1262C>T	NM_003995.4	NP_003986.2:p.(Thr421Met)	NC_000009.11:g.35800749C>T	VUS	1 lab	a32941a53c
3:10188297 VHL T>C	3	10188297	10188297	T	C	VHL	c.440T>C	NM_000551.4	NP_000542.1:p.(Ile147Thr)	NC_000003.11:g.10188297T>C	VUS	1 lab	a329baf88d
1:22191361 HSPG2 G>C	1	22191361	22191361	G	C	HSPG2	c.4601C>G	NM_005529.7	NP_005520.4:p.(Pro1534Arg)	NC_000001.10:g.22191361G>C	VUS	1 lab	a329e4593f
9:133068500 HMCN2 C>T	9	133068500	133068500	C	T	HMCN2	c.1909C>T	NM_001291815.2	NP_001278744.1:p.(Pro637Ser)	NC_000009.11:g.133068500C>T	VUS	1 lab	a32a4d2cd5
4:170400600 NEK1 A>G	4	170400600	170400600	A	G	NEK1	c.2093T>C	NM_001199397.3	NP_001186326.1:p.(Met698Thr)	NC_000004.11:g.170400600A>G	VUS	1 lab	a32a538bea
1:228486379 OBSCN T>C	1	228486379	228486379	T	C	OBSCN	c.13171T>C	NM_001386125.1	NP_001373054.1:p.(Cys4391Arg)	NC_000001.10:g.228486379T>C	(Likely) benign	1 lab	a32acb6fbf
22:44285363 PNPLA5 G>A	22	44285363	44285363	G	A	PNPLA5	c.548C>T	NM_138814.4	NP_620169.1:p.(Thr183Ile)	NC_000022.10:g.44285363G>A	VUS	1 lab	a32d8964d5
19:39006873 RYR1 C>T	19	39006873	39006873	C	T	RYR1	c.9685+16C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39006873C>T	(Likely) benign	1 lab	a32e7c3e97
16:9862752 GRIN2A C>G	16	9862752	9862752	C	G	GRIN2A	c.2551G>C	NM_001134407.3	NP_001127879.1:p.(Gly851Arg)	NC_000016.9:g.9862752C>G	VUS	1 lab	a32f49c23d
22:26422778 MYO18B A>C	22	26422778	26422778	A	C	MYO18B	c.6838A>C	NM_032608.7	NP_115997.5:p.(Ile2280Leu)	NC_000022.10:g.26422778A>C	VUS	1 lab	a32f50cf36
13:31789183 B3GLCT TCCAGC>T	13	31789183	31789188	TCCAGC	T	B3GLCT	c.71-4_71del	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31789184_31789188del	(Likely) benign	1 lab	a3315ef7b6
X:54069257 PHF8 G>A	X	54069257	54069257	G	A	PHF8	c.-92-4C>T	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54069257G>A	(Likely) benign	1 lab	a331a901db
14:51239818 NIN A>G	14	51239818	51239818	A	G	NIN	c.667-5T>C	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51239818A>G	(Likely) benign	1 lab	a332f69cf9
1:152191227 HRNR G>T	1	152191227	152191227	G	T	HRNR	c.2878C>A	NM_001009931.3	NP_001009931.1:p.(His960Asn)	NC_000001.10:g.152191227G>T	VUS	1 lab	a334425882
11:17428559 ABCC8 G>A	11	17428559	17428559	G	A	ABCC8	c.3038C>T	NM_000352.6	NP_000343.2:p.(Ser1013Leu)	NC_000011.9:g.17428559G>A	VUS	1 lab	a3346b6ee2
10:89469007 PAPSS2 A>G	10	89469007	89469007	A	G	PAPSS2	c.82A>G	NM_001015880.2	NP_001015880.1:p.(Asn28Asp)	NC_000010.10:g.89469007A>G	VUS	1 lab	a3349f77cb
2:48036731 FBXO11 C>T	2	48036731	48036731	C	T	FBXO11	c.2446+8G>A	NM_001190274.2	NP_001177203.1:p.?	NC_000002.11:g.48036731C>T	(Likely) benign	1 lab	a335090a26
X:102318099 BEX1 G>A	X	102318099	102318099	G	A	BEX1	c.104C>T	NM_018476.4	NP_060946.3:p.(Ala35Val)	NC_000023.10:g.102318099G>A	(Likely) benign	1 lab	a33613f19b
18:56940383 RAX C>T	18	56940383	56940383	C	T	RAX	c.56G>A	NM_013435.3	NP_038463.2:p.(Gly19Asp)	NC_000018.9:g.56940383C>T	VUS	1 lab	a336a20c3d
X:70352210 MED12 CTCTG>C	X	70352210	70352219	CTCTG	C	MED12	c.4254-11_4254-8del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352216_70352219del	(Likely) benign	1 lab	a339cf617b
21:44839324 SIK1 C>T	21	44839324	44839324	C	T	SIK1	c.1154G>A	NM_173354.5	NP_775490.2:p.(Arg385Gln)	NC_000021.8:g.44839324C>T	(Likely) benign	1 lab	a33c6b7179
15:79060568 ADAMTS7 C>T	15	79060568	79060568	C	T	ADAMTS7	c.2552G>A	NM_014272.5	NP_055087.2:p.(Arg851Gln)	NC_000015.9:g.79060568C>T	(Likely) benign	1 lab	a33e3d750d
2:20169260 WDR35 T>C	2	20169260	20169260	T	C	WDR35	c.989A>G	NM_020779.4	NP_065830.2:p.(Asn330Ser)	NC_000002.11:g.20169260T>C	(Likely) benign	1 lab	a340270b66
14:102452463 DYNC1H1 A>G	14	102452463	102452463	A	G	DYNC1H1	c.1901A>G	NM_001376.5	NP_001367.2:p.(Lys634Arg)	NC_000014.8:g.102452463A>G	VUS	1 lab	a340f23fd9
2:132021334 POTEE A>T	2	132021334	132021334	A	T	POTEE	c.2306A>T	NM_001083538.3	NP_001077007.1:p.(Tyr769Phe)	NC_000002.11:g.132021334A>T	VUS	1 lab	a3414ae5cf
2:242707175 D2HGDH C>T	2	242707175	242707175	C	T	D2HGDH	c.1357C>T	NM_152783.5	NP_689996.4:p.(Leu453Phe)	NC_000002.11:g.242707175C>T	VUS	1 lab	a344148cc2
1:156106090 LMNA G>A	1	156106090	156106090	G	A	LMNA	c.1243G>A	NM_170707.4	NP_733821.1:p.(Val415Ile)	NC_000001.10:g.156106090G>A	(Likely) benign	1 lab	a3453fd1cc
12:50479294 SMARCD1 C>CT	12	50479294	50479295	C	CT	SMARCD1	c.143dup	NM_003076.5	NP_003067.3:p.(Tyr49ValfsTer82)	NC_000012.11:g.50479295dup	VUS	1 lab	a34591a827
14:51383751 PYGL G>A	14	51383751	51383751	G	A	PYGL	c.928C>T	NM_002863.5	NP_002854.3:p.(Arg310Cys)	NC_000014.8:g.51383751G>A	(Likely) pathogenic	1 lab	a346464877
1:160012006 KCNJ10 G>A	1	160012006	160012006	G	A	KCNJ10	c.317C>T	NM_002241.5	NP_002232.2:p.(Thr106Ile)	NC_000001.10:g.160012006G>A	VUS	1 lab	a356807c77
16:58585617 CNOT1 A>ACCTGGGCCTGAG	16	58585617	58585643	A	ACCTGGGCCTGAG	CNOT1	c.3065_3076dup	NM_016284.5	NP_057368.3:p.(Ala1022_Gln1025dup)	NC_000016.9:g.58585632_58585643dup	(Likely) benign	1 lab	a34682cb49
6:31895941 C2 C>T	6	31895941	31895941	C	T	C2	c.256C>T	NM_000063.6	NP_000054.2:p.(Pro86Ser)	NC_000006.11:g.31895941C>T	(Likely) benign	1 lab	a34930080a
2:44223080 LRPPRC C>T	2	44223080	44223080	C	T	LRPPRC	c.7G>A	NM_133259.4	NP_573566.2:p.(Ala3Thr)	NC_000002.11:g.44223080C>T	(Likely) benign	1 lab	27a636385d
12:133254148 POLE A>G	12	133254148	133254148	A	G	POLE	c.720+16T>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133254148A>G	VUS	1 lab	a34c6eb830
9:104335719 GRIN3A A>G	9	104335719	104335719	A	G	GRIN3A	c.3085T>C	NM_133445.3	NP_597702.2:p.(Phe1029Leu)	NC_000009.11:g.104335719A>G	(Likely) benign	1 lab	a34c86b917
11:678754 DEAF1 C>G	11	678754	678754	C	G	DEAF1	c.1195G>C	NM_021008.4	NP_066288.2:p.(Asp399His)	NC_000011.9:g.678754C>G	VUS	1 lab	a34e6c053d
1:181767884 CACNA1E C>T	1	181767884	181767884	C	T	CACNA1E	c.6856C>T	NM_001205293.3	NP_001192222.1:p.(Arg2286Trp)	NC_000001.10:g.181767884C>T	(Likely) benign	1 lab	a35050197e
1:179883190 TOR1AIP1 G>A	1	179883190	179883190	G	A	TOR1AIP1	c.964+1G>A	NM_015602.4	NP_056417.2:p.?	NC_000001.10:g.179883190G>A	(Likely) benign	1 lab	a35088169e
1:176563779 PAPPA2 G>A	1	176563779	176563779	G	A	PAPPA2	c.1039G>A	NM_020318.3	NP_064714.2:p.(Val347Met)	NC_000001.10:g.176563779G>A	(Likely) benign	1 lab	a354516f38
2:166767959 TTC21B T>A	2	166767959	166767959	T	A	TTC21B	c.2339A>T	NM_024753.5	NP_079029.3:p.(Glu780Val)	NC_000002.11:g.166767959T>A	VUS	1 lab	a356c9c1bc
14:50100462 DNAAF2 C>T	14	50100462	50100462	C	T	DNAAF2	c.1406G>A	NM_018139.3	NP_060609.2:p.(Cys469Tyr)	NC_000014.8:g.50100462C>T	(Likely) benign	1 lab	a359ffefe1
2:143712432 KYNU C>A	2	143712432	143712432	C	A	KYNU	c.427C>A	NM_003937.3	NP_003928.1:p.(Leu143Ile)	NC_000002.11:g.143712432C>A	VUS	1 lab	a35af9a5c2
X:48374146 PORCN G>C	X	48374146	48374146	G	C	PORCN	c.988G>C	NM_203475.3	NP_982301.1:p.(Val330Leu)	NC_000023.10:g.48374146G>C	(Likely) benign	1 lab	a35b30e4ed
20:41101203 PTPRT C>G	20	41101203	41101203	C	G	PTPRT	c.1154-1G>C	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41101203C>G	VUS	1 lab	a35ba125ef
16:70732653 VAC14 G>A	16	70732653	70732653	G	A	VAC14	c.1723C>T	NM_018052.5	NP_060522.3:p.(Arg575Trp)	NC_000016.9:g.70732653G>A	VUS	1 lab	a35d1016c4
16:30997050 HSD3B7 A>G	16	30997050	30997050	A	G	HSD3B7	c.71A>G	NM_025193.4	NP_079469.2:p.(His24Arg)	NC_000016.9:g.30997050A>G	(Likely) benign	1 lab	a35da9728b
X:129273783 AIFM1 G>A	X	129273783	129273783	G	A	AIFM1	c.845C>T	NM_004208.4	NP_004199.1:p.(Thr282Met)	NC_000023.10:g.129273783G>A	VUS	1 lab	a35e4ad37a
7:142460779 PRSS1 G>T	7	142460779	142460779	G	T	PRSS1	c.652G>T	NM_002769.5	NP_002760.1:p.(Asp218Tyr)	NC_000007.13:g.142460779G>T	(Likely) benign	1 lab	a3600049b6
4:1242712 CTBP1 A>G	4	1242712	1242712	A	G	CTBP1	c.-197T>C	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1242712A>G	(Likely) benign	1 lab	a3623f9c2b
22:50964222 TYMP G>C	22	50964222	50964222	G	C	TYMP	c.1426C>G	NM_001953.5	NP_001944.1:p.(Leu476Val)	NC_000022.10:g.50964222G>C	VUS	1 lab	a36254d8fe
16:4644482 C16orf96 G>A	16	4644482	4644482	G	A	C16orf96	c.2998G>A	NM_001145011.2	NP_001138483.1:p.(Gly1000Arg)	NC_000016.9:g.4644482G>A	(Likely) benign	1 lab	a3628a3444
3:48508961 TREX1 A>C	3	48508961	48508961	A	C	TREX1	c.907A>C	NM_033629.6	NP_338599.1:p.(Thr303Pro)	NC_000003.11:g.48508961A>C	VUS	1 lab	a362c6bc61
X:30326875 NR0B1 G>C	X	30326875	30326875	G	C	NR0B1	c.606C>G	NM_000475.5	NP_000466.2:p.(Cys202Trp)	NC_000023.10:g.30326875G>C	VUS	1 lab	a3649eda7d
X:105153348 NRK A>T	X	105153348	105153348	A	T	NRK	c.1715A>T	NM_198465.4	NP_940867.2:p.(Glu572Val)	NC_000023.10:g.105153348A>T	VUS	1 lab	a364cd546a
20:10621783 JAG1 T>C	20	10621783	10621783	T	C	JAG1	c.3026A>G	NM_000214.3	NP_000205.1:p.(Asn1009Ser)	NC_000020.10:g.10621783T>C	VUS	1 lab	a368a145c2
7:98609829 TRRAP G>A	7	98609829	98609829	G	A	TRRAP	c.11473G>A	NM_001375524.1	NP_001362453.1:p.(Val3825Ile)	NC_000007.13:g.98609829G>A	VUS	1 lab	a36cf0f211
19:7938552 PRR36 G>A	19	7938552	7938552	G	A	PRR36	c.23C>T	NM_001190467.2	NP_001177396.1:p.(Ala8Val)	NC_000019.9:g.7938552G>A	VUS	1 lab	a37065ec61
17:78188405 SGSH G>A	17	78188405	78188405	G	A	SGSH	c.506+9C>T	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78188405G>A	(Likely) benign	1 lab	a371367848
18:43514799 EPG5 C>T	18	43514799	43514799	C	T	EPG5	c.2233G>A	NM_020964.3	NP_066015.2:p.(Ala745Thr)	NC_000018.9:g.43514799C>T	(Likely) benign	1 lab	a3717479bc
12:75710214 CAPS2 A>G	12	75710214	75710214	A	G	CAPS2	c.355T>C	NM_001355024.4	NP_001341953.2:p.(Cys119Arg)	NC_000012.11:g.75710214A>G	(Likely) benign	1 lab	a371dd2960
X:149639014 MAMLD1 G>T	X	149639014	149639014	G	T	MAMLD1	c.1169G>T	NM_005491.5	NP_005482.2:p.(Ser390Ile)	NC_000023.10:g.149639014G>T	VUS	1 lab	a3720cb687
4:49030708 CWH43 G>A	4	49030708	49030708	G	A	CWH43	c.1329G>A	NM_025087.3	NP_079363.2:p.(Gly443=)	NC_000004.11:g.49030708G>A	VUS	1 lab	a372862911
11:47463249 RAPSN T>C	11	47463249	47463249	T	C	RAPSN	c.826A>G	NM_005055.5	NP_005046.2:p.(Met276Val)	NC_000011.9:g.47463249T>C	VUS	1 lab	a37293785e
X:101909463 GPRASP1 G>A	X	101909463	101909463	G	A	GPRASP1	c.622G>A	NM_001184727.2	NP_001171656.1:p.(Glu208Lys)	NC_000023.10:g.101909463G>A	VUS	1 lab	a37326496a
10:88476160 LDB3 CTACA>C	10	88476160	88476164	CTACA	C	LDB3	c.1309_1312del	NM_007078.3	NP_009009.1:p.(Tyr437ProfsTer54)	NC_000010.10:g.88476161_88476164del	(Likely) benign	1 lab	a37331335c
X:109695334 RTL9 A>T	X	109695334	109695334	A	T	RTL9	c.1489A>T	NM_001385449.1	NP_001372378.1:p.(Met497Leu)	NC_000023.10:g.109695334A>T	VUS	1 lab	a37462a9ac
1:9781202 PIK3CD C>T	1	9781202	9781202	C	T	PIK3CD	c.1707C>T	NM_005026.3	NP_005017.3:p.(Cys569=)	NC_000001.10:g.9781202C>T	(Likely) benign	1 lab	29134c6c4d
3:10133890 FANCD2 G>A	3	10133890	10133890	G	A	FANCD2	c.3803G>A	NM_001018115.3	NP_001018125.1:p.(Trp1268Ter)	NC_000003.11:g.10133890G>A	(Likely) pathogenic	1 lab	a374d28296
22:42606905 TCF20 T>C	22	42606905	42606905	T	C	TCF20	c.4407A>G	NM_001378418.1	NP_001365347.1:p.(Ser1469=)	NC_000022.10:g.42606905T>C	(Likely) benign	1 lab	a374ddbe28
6:91261841 MAP3K7 C>T	6	91261841	91261841	C	T	MAP3K7	c.794G>A	NM_145331.3	NP_663304.1:p.(Arg265His)	NC_000006.11:g.91261841C>T	VUS	1 lab	a376e5b0dc
4:15004803 CPEB2 G>GGCA	4	15004803	15004817	G	GGCA	CPEB2	c.518_520dup	NM_001177382.2	NP_001170853.1:p.(Gln173dup)	NC_000004.11:g.15004815_15004817dup	(Likely) benign	1 lab	a3771c8dfa
6:38950201 DNAH8 T>A	6	38950201	38950201	T	A	DNAH8	c.12914T>A	NM_001206927.2	NP_001193856.1:p.(Phe4305Tyr)	NC_000006.11:g.38950201T>A	VUS	1 lab	a3782fc882
1:16357159 CLCNKA C>T	1	16357159	16357159	C	T	CLCNKA	c.1612C>T	NM_004070.4	NP_004061.3:p.(Arg538Cys)	NC_000001.10:g.16357159C>T	VUS	1 lab	a378a9505b
2:201778716 ORC2 C>CA	2	201778716	201778717	C	CA	ORC2	c.1467-2_1467-1insT	NM_006190.5	NP_006181.1:p.?	NC_000002.11:g.201778716_201778717insA	(Likely) benign	1 lab	a3791adee4
X:31747835 DMD G>A	X	31747835	31747835	G	A	DMD	c.7573C>T	NM_004006.3	NP_003997.2:p.(Pro2525Ser)	NC_000023.10:g.31747835G>A	VUS	1 lab	a37ab48bca
1:247588593 NLRP3 C>G	1	247588593	247588593	C	G	NLRP3	c.1848C>G	NM_004895.4	NP_004886.3:p.(Ala616=)	NC_000001.10:g.247588593C>G	(Likely) benign	1 lab	2914215ee1
2:176965259 HOXD12 G>T	2	176965259	176965259	G	T	HOXD12	c.584G>T	NM_021193.4	NP_067016.3:p.(Trp195Leu)	NC_000002.11:g.176965259G>T	VUS	1 lab	a37d1791e9
10:112360267 SMC3 A>G	10	112360267	112360267	A	G	SMC3	c.2498A>G	NM_005445.4	NP_005436.1:p.(Asn833Ser)	NC_000010.10:g.112360267A>G	(Likely) benign	1 lab	a37e5924f2
20:33033091 ITCH G>T	20	33033091	33033091	G	T	ITCH	c.966-1G>T	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33033091G>T	(Likely) benign	1 lab	a380ea73a8
1:45977060 MMACHC T>C	1	45977060	45977060	T	C	MMACHC	c.*2173T>C	NM_015506.3	NP_056321.2:p.?	NC_000001.10:g.45977060T>C	(Likely) benign	1 lab	a3816f8f8f
18:47769253 CFAP53 G>T	18	47769253	47769253	G	T	CFAP53	c.1213+17C>A	NM_145020.5	NP_659457.2:p.?	NC_000018.9:g.47769253G>T	(Likely) benign	1 lab	32b0642492
15:28953301 GOLGA8M T>C	15	28953301	28953301	T	C	GOLGA8M	c.367A>G	NM_001282468.3	NP_001269397.1:p.(Lys123Glu)	NC_000015.9:g.28953301T>C	(Likely) benign	1 lab	a381d78d67
X:11133011 HCCS G>T	X	11133011	11133011	G	T	HCCS	c.157G>T	NM_005333.5	NP_005324.3:p.(Val53Leu)	NC_000023.10:g.11133011G>T	VUS	1 lab	a4a4fc59dd
10:129172336 DOCK1 G>A	10	129172336	129172336	G	A	DOCK1	c.3533G>A	NM_001290223.2	NP_001277152.2:p.(Cys1178Tyr)	NC_000010.10:g.129172336G>A	VUS	1 lab	a383fd9af7
2:216238394 FN1 CTT>C	2	216238394	216238420	CTT	C	FN1	c.6158-262_6158-261del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216238419_216238420del	(Likely) benign	1 lab	a3843087ca
9:117087401 ORM1 A>G	9	117087401	117087401	A	G	ORM1	c.509A>G	NM_000607.4	NP_000598.2:p.(Lys170Arg)	NC_000009.11:g.117087401A>G	(Likely) benign	1 lab	a3850b8e60
11:108235872 ATM C>T	11	108235872	108235872	C	T	ATM	c.8914C>T	NM_000051.3	NP_000042.3:p.(Gln2972Ter)	NC_000011.9:g.108235872C>T	(Likely) pathogenic	1 lab	32b1641ccb
10:108389073 SORCS1 G>A	10	108389073	108389073	G	A	SORCS1	c.2549C>T	NM_052918.5	NP_443150.3:p.(Ser850Phe)	NC_000010.10:g.108389073G>A	VUS	1 lab	a3861df778
5:1294372 TERT G>A	5	1294372	1294372	G	A	TERT	c.629C>T	NM_198253.3	NP_937983.2:p.(Ala210Val)	NC_000005.9:g.1294372G>A	VUS	1 lab	a387070300
11:31814998 PAX6 G>C	11	31814998	31814998	G	C	PAX6	c.1062C>G	NM_001368894.2	NP_001355823.1:p.(Asn354Lys)	NC_000011.9:g.31814998G>C	VUS	1 lab	a387cbaef1
16:1251802 CACNA1H C>T	16	1251802	1251802	C	T	CACNA1H	c.1352C>T	NM_021098.3	NP_066921.2:p.(Ser451Phe)	NC_000016.9:g.1251802C>T	VUS	1 lab	a38ad1aadd
1:154574597 ADAR C>T	1	154574597	154574597	C	T	ADAR	c.521G>A	NM_001111.5	NP_001102.3:p.(Arg174Gln)	NC_000001.10:g.154574597C>T	(Likely) benign	1 lab	a38c2ea01d
4:109753577 COL25A1 G>A	4	109753577	109753577	G	A	COL25A1	c.1669C>T	NM_198721.4	NP_942014.1:p.(Pro557Ser)	NC_000004.11:g.109753577G>A	VUS	1 lab	a38d58262c
10:134732891 CFAP46 C>T	10	134732891	134732891	C	T	CFAP46	c.1786G>A	NM_001200049.3	NP_001186978.2:p.(Val596Ile)	NC_000010.10:g.134732891C>T	(Likely) benign	1 lab	a3904dfaaa
6:35046396 ANKS1A G>A	6	35046396	35046396	G	A	ANKS1A	c.2246G>A	NM_015245.3	NP_056060.2:p.(Arg749Gln)	NC_000006.11:g.35046396G>A	VUS	1 lab	a39069ac4a
6:29407845 OR11A1 A>T	6	29407845	29407845	A	T	OR11A1	c.-388-8081T>A	NM_001394828.1	NP_001381757.1:p.?	NC_000006.11:g.29407845A>T	(Likely) benign	1 lab	a390f04738
1:202700105 KDM5B A>C	1	202700105	202700105	A	C	KDM5B	c.4108T>G	NM_006618.5	NP_006609.3:p.(Leu1370Val)	NC_000001.10:g.202700105A>C	(Likely) benign	1 lab	a391af3f44
17:10542655 MYH3 A>G	17	10542655	10542655	A	G	MYH3	c.3062T>C	NM_002470.4	NP_002461.2:p.(Leu1021Ser)	NC_000017.10:g.10542655A>G	VUS	1 lab	a391c2dcb9
22:18376646 MICAL3 C>T	22	18376646	18376646	C	T	MICAL3	c.1474G>A	NM_015241.3	NP_056056.2:p.(Glu492Lys)	NC_000022.10:g.18376646C>T	(Likely) benign	1 lab	a3a53d7f4f
15:101550853 LRRK1 CTTTGGGTCTTTTTTT>C	15	101550853	101550871	CTTTGGGTCTTTTTTT	C	LRRK1	c.1118-22_1118-8del	NM_024652.6	NP_078928.3:p.?	NC_000015.9:g.101550857_101550871del	VUS	1 lab	a392eb0ada
11:67941022 KMT5B C>T	11	67941022	67941022	C	T	KMT5B	c.653+249G>A	NM_017635.5	NP_060105.3:p.?	NC_000011.9:g.67941022C>T	(Likely) benign	1 lab	a3938e6666
19:36399123 TYROBP C>T	19	36399123	36399123	C	T	TYROBP	c.8G>A	NM_003332.4	NP_003323.1:p.(Gly3Glu)	NC_000019.9:g.36399123C>T	(Likely) benign	1 lab	a394e5ca6b
22:51159376 SHANK3 G>A	22	51159376	51159376	G	A	SHANK3	c.3340G>A	NM_001372044.2	NP_001358973.1:p.(Ala1114Thr)	NC_000022.10:g.51159376G>A	VUS	1 lab	a395afda2c
20:62853338 MYT1 A>C	20	62853338	62853338	A	C	MYT1	c.2334A>C	NM_004535.3	NP_004526.1:p.(Glu778Asp)	NC_000020.10:g.62853338A>C	(Likely) benign	1 lab	a395f4bb4c
1:165712550 TMCO1 T>A	1	165712550	165712550	T	A	TMCO1	c.324-2A>T	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165712550T>A	VUS	1 lab	a3979456fa
2:167304209 SCN7A T>C	2	167304209	167304209	T	C	SCN7A	c.1300A>G	NM_002976.4	NP_002967.2:p.(Ile434Val)	NC_000002.11:g.167304209T>C	VUS	1 lab	a397f2c289
1:108742689 SLC25A24 G>C	1	108742689	108742689	G	C	SLC25A24	c.72C>G	NM_013386.5	NP_037518.3:p.(Tyr24Ter)	NC_000001.10:g.108742689G>C	(Likely) benign	1 lab	a39a7eb5f4
11:17415843 ABCC8 G>A	11	17415843	17415843	G	A	ABCC8	c.4515C>T	NM_000352.6	NP_000343.2:p.(Asp1505=)	NC_000011.9:g.17415843G>A	(Likely) benign	1 lab	a39bb0f528
10:71158553 HK1 G>A	10	71158553	71158553	G	A	HK1	c.2578G>A	NM_000188.3	NP_000179.2:p.(Val860Met)	NC_000010.10:g.71158553G>A	VUS	1 lab	a3ac139846
X:153770663 G6PD G>C	X	153770663	153770663	G	C	G6PD	c.120+3588C>G	NM_001360016.2	NP_001346945.1:p.?	NC_000023.10:g.153770663G>C	(Likely) benign	1 lab	a39be7a4a2
20:46279918 NCOA3 C>T	20	46279918	46279918	C	T	NCOA3	c.3844C>T	NM_181659.3	NP_858045.1:p.(Pro1282Ser)	NC_000020.10:g.46279918C>T	(Likely) benign	1 lab	a39d80fe45
17:57262923 PRR11 G>A	17	57262923	57262923	G	A	PRR11	c.402G>A	NM_018304.4	NP_060774.2:p.(Lys134=)	NC_000017.10:g.57262923G>A	(Likely) benign	1 lab	a3a1672b7c
9:107513411 NIPSNAP3A G>A	9	107513411	107513411	G	A	NIPSNAP3A	c.235G>A	NM_015469.3	NP_056284.1:p.(Gly79Ser)	NC_000009.11:g.107513411G>A	VUS	1 lab	a3a35f5404
3:53853074 CHDH G>T	3	53853074	53853074	G	T	CHDH	c.1264-7C>A	NM_018397.5	NP_060867.2:p.?	NC_000003.11:g.53853074G>T	VUS	1 lab	a3a51ec7a1
9:21971164 CDKN2A A>G	9	21971164	21971164	A	G	CDKN2A	c.194T>C	NM_000077.5	NP_000068.1:p.(Leu65Pro)	NC_000009.11:g.21971164A>G	(Likely) pathogenic	1 lab	a3a52a0fbb
5:160763710 GABRB2 G>A	5	160763710	160763710	G	A	GABRB2	c.608C>T	NM_021911.3	NP_068711.1:p.(Thr203Met)	NC_000005.9:g.160763710G>A	VUS	1 lab	27aef3d073
6:27792138 H4C11 G>A	6	27792138	27792138	G	A	H4C11	c.236G>A	NM_021968.4	NP_068803.1:p.(Arg79His)	NC_000006.11:g.27792138G>A	VUS	1 lab	a3a78be34a
1:119441722 TBX15 G>T	1	119441722	119441722	G	T	TBX15	c.953C>A	NM_001330677.2	NP_001317606.1:p.(Thr318Lys)	NC_000001.10:g.119441722G>T	VUS	1 lab	a3a87bd756
11:103048457 DYNC2H1 A>G	11	103048457	103048457	A	G	DYNC2H1	c.6047A>G	NM_001377.3	NP_001368.2:p.(Tyr2016Cys)	NC_000011.9:g.103048457A>G	VUS	1 lab	a3a90388f9
2:54877002 SPTBN1 T>C	2	54877002	54877002	T	C	SPTBN1	c.5453T>C	NM_003128.3	NP_003119.2:p.(Phe1818Ser)	NC_000002.11:g.54877002T>C	VUS	1 lab	a3a9338c0e
9:139417320 NOTCH1 C>G	9	139417320	139417320	C	G	NOTCH1	c.724G>C	NM_017617.5	NP_060087.3:p.(Glu242Gln)	NC_000009.11:g.139417320C>G	VUS	1 lab	a3a9ca209d
2:80529933 CTNNA2 C>T	2	80529933	80529933	C	T	CTNNA2	c.1057-90403C>T	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.80529933C>T	VUS	1 lab	a3ae016197
13:111303373 CARS2 C>T	13	111303373	111303373	C	T	CARS2	c.1054+8G>A	NM_024537.4	NP_078813.1:p.?	NC_000013.10:g.111303373C>T	(Likely) benign	1 lab	a3ae0f498a
9:21974678 CDKN2A T>C	9	21974678	21974678	T	C	CDKN2A	c.149A>G	NM_000077.5	NP_000068.1:p.(Gln50Arg)	NC_000009.11:g.21974678T>C	(Likely) pathogenic	1 lab	a3ae8734ee
22:50315936 CRELD2 CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG>C	22	50315936	50315974	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C	CRELD2	c.593-322_593-286del	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50315938_50315974del	VUS	1 lab	a3ae8e8ddf
2:217297455 SMARCAL1 A>G	2	217297455	217297455	A	G	SMARCAL1	c.1349A>G	NM_014140.4	NP_054859.2:p.(Lys450Arg)	NC_000002.11:g.217297455A>G	(Likely) benign	1 lab	a3af4127e0
18:28669465 DSC2 C>G	18	28669465	28669465	C	G	DSC2	c.567G>C	NM_024422.6	NP_077740.1:p.(Glu189Asp)	NC_000018.9:g.28669465C>G	VUS	1 lab	a3af70a279
19:38964152 RYR1 C>T	19	38964152	38964152	C	T	RYR1	c.3901C>T	NM_000540.3	NP_000531.2:p.(Arg1301Cys)	NC_000019.9:g.38964152C>T	VUS	1 lab	a3b1d01827
19:805513 PTBP1 C>T	19	805513	805513	C	T	PTBP1	c.914C>T	NM_002819.5	NP_002810.1:p.(Ala305Val)	NC_000019.9:g.805513C>T	VUS	1 lab	a3b2b6f7f4
1:216390860 USH2A G>T	1	216390860	216390860	G	T	USH2A	c.3026C>A	NM_206933.4	NP_996816.3:p.(Ala1009Asp)	NC_000001.10:g.216390860G>T	VUS	1 lab	a3b3486e57
15:89401730 ACAN C>T	15	89401730	89401730	C	T	ACAN	c.5914C>T	NM_001369268.1	NP_001356197.1:p.(Pro1972Ser)	NC_000015.9:g.89401730C>T	VUS	1 lab	a3b4b4c11f
3:186917644 RTP1 C>A	3	186917644	186917644	C	A	RTP1	c.578C>A	NM_153708.3	NP_714919.2:p.(Ala193Asp)	NC_000003.11:g.186917644C>A	VUS	1 lab	a3b4fcfacf
16:9916317 GRIN2A G>A	16	9916317	9916317	G	A	GRIN2A	c.2008-36C>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9916317G>A	(Likely) benign	1 lab	2914ef489b
12:88547146 TMTC3 A>G	12	88547146	88547146	A	G	TMTC3	c.268A>G	NM_181783.4	NP_861448.2:p.(Met90Val)	NC_000012.11:g.88547146A>G	(Likely) benign	1 lab	a3b5bc2d6e
11:47464258 RAPSN C>T	11	47464258	47464258	C	T	RAPSN	c.640G>A	NM_005055.5	NP_005046.2:p.(Val214Met)	NC_000011.9:g.47464258C>T	(Likely) benign	1 lab	a3b8169615
17:59481992 TBX2 C>A	17	59481992	59481992	C	A	TBX2	c.913C>A	NM_005994.4	NP_005985.3:p.(Arg305Ser)	NC_000017.10:g.59481992C>A	VUS	1 lab	a3b851813a
X:124456079 TEX13C C>T	X	124456079	124456079	C	T	TEX13C	c.2111C>T	NM_001195272.2	NP_001182201.1:p.(Pro704Leu)	NC_000023.10:g.124456079C>T	VUS	1 lab	a3b96039c0
16:89346159 ANKRD11 G>A	16	89346159	89346159	G	A	ANKRD11	c.6791C>T	NM_013275.6	NP_037407.4:p.(Pro2264Leu)	NC_000016.9:g.89346159G>A	(Likely) benign	1 lab	a3b9ea1c20
15:42682230 CAPN3 TG>T	15	42682230	42682232	TG	T	CAPN3	c.883del	NM_000070.3	NP_000061.1:p.(Asp295IlefsTer57)	NC_000015.9:g.42682232del	(Likely) pathogenic	1 lab	a3bb9bbc17
1:24194754 FUCA1 G>C	1	24194754	24194754	G	C	FUCA1	c.23C>G	NM_000147.5	NP_000138.2:p.(Ser8Trp)	NC_000001.10:g.24194754G>C	(Likely) benign	1 lab	a3bcea1448
8:69002939 PREX2 C>T	8	69002939	69002939	C	T	PREX2	c.2239C>T	NM_024870.4	NP_079146.2:p.(Arg747Trp)	NC_000008.10:g.69002939C>T	VUS	1 lab	a3bcfc43f8
2:37299286 HEATR5B T>C	2	37299286	37299286	T	C	HEATR5B	c.736A>G	NM_019024.3	NP_061897.1:p.(Met246Val)	NC_000002.11:g.37299286T>C	(Likely) benign	1 lab	a3bd6800ba
5:60194143 ERCC8 C>T	5	60194143	60194143	C	T	ERCC8	c.803G>A	NM_000082.4	NP_000073.1:p.(Arg268Gln)	NC_000005.9:g.60194143C>T	VUS	1 lab	a3bd805257
3:81695611 GBE1 C>T	3	81695611	81695611	C	T	GBE1	c.714G>A	NM_000158.4	NP_000149.4:p.(Met238Ile)	NC_000003.11:g.81695611C>T	VUS	1 lab	a3bef75c6d
X:76952118 ATRX T>A	X	76952118	76952118	T	A	ATRX	c.317A>T	NM_000489.6	NP_000480.3:p.(Asp106Val)	NC_000023.10:g.76952118T>A	VUS	1 lab	a3c11b3b20
11:119149009 CBL T>C	11	119149009	119149009	T	C	CBL	c.1227+2T>C	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119149009T>C	(Likely) pathogenic	1 lab	a3c15b2e08
19:18896776 COMP G>T	19	18896776	18896776	G	T	COMP	c.1488C>A	NM_000095.3	NP_000086.2:p.(Asp496Glu)	NC_000019.9:g.18896776G>T	(Likely) benign	1 lab	a3c2f6e4ec
16:2168437 PKD1 CAGGG>C	16	2168437	2168444	CAGGG	C	PKD1	c.552_555del	NM_001009944.3	NP_001009944.3:p.(Pro185ThrfsTer104)	NC_000016.9:g.2168441_2168444del	(Likely) pathogenic	1 lab	a3c42c1296
12:12301951 LRP6 T>A	12	12301951	12301951	T	A	LRP6	c.3131A>T	NM_002336.3	NP_002327.2:p.(Asp1044Val)	NC_000012.11:g.12301951T>A	VUS	1 lab	a3c4eeecb0
3:136088025 STAG1 C>CAGT	3	136088025	136088029	C	CAGT	STAG1	c.2467_2469dup	NM_005862.3	NP_005853.2:p.(Thr823dup)	NC_000003.11:g.136088027_136088029dup	VUS	1 lab	a3c4efeb24
X:149680407 MAMLD1 C>A	X	149680407	149680407	C	A	MAMLD1	c.*178C>A	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680407C>A	(Likely) benign	1 lab	a3c79aa27e
15:49073420 CEP152 A>T	15	49073420	49073420	A	T	CEP152	c.1550T>A	NM_001194998.2	NP_001181927.1:p.(Val517Asp)	NC_000015.9:g.49073420A>T	VUS	1 lab	a3c8ae9c45
22:40662503 TNRC6B A>G	22	40662503	40662503	A	G	TNRC6B	c.2269A>G	NM_001162501.2	NP_001155973.1:p.(Lys757Glu)	NC_000022.10:g.40662503A>G	VUS	1 lab	a3c9e7da28
2:152537333 NEB G>C	2	152537333	152537333	G	C	NEB	c.2953C>G	NM_001164508.2	NP_001157980.2:p.(Arg985Gly)	NC_000002.11:g.152537333G>C	VUS	1 lab	a3ca0afdeb
15:91310183 BLM C>T	15	91310183	91310183	C	T	BLM	c.2237C>T	NM_000057.4	NP_000048.1:p.(Ala746Val)	NC_000015.9:g.91310183C>T	VUS	1 lab	a3cb497dc1
15:67073679 SMAD6 G>A	15	67073679	67073679	G	A	SMAD6	c.1297G>A	NM_005585.5	NP_005576.3:p.(Gly433Ser)	NC_000015.9:g.67073679G>A	VUS	1 lab	a3cc602284
5:127636502 FBN2 C>T	5	127636502	127636502	C	T	FBN2	c.6166+7G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127636502C>T	(Likely) benign	1 lab	a3cca47751
22:39530659 CBX7 C>G	22	39530659	39530659	C	G	CBX7	c.345G>C	NM_175709.5	NP_783640.1:p.(Glu115Asp)	NC_000022.10:g.39530659C>G	(Likely) benign	1 lab	a3cd3c0b0d
1:15541768 TMEM51 CCTT>C	1	15541768	15541773	CCTT	C	TMEM51	c.188_190del	NM_001136218.2	NP_001129690.1:p.(Phe63del)	NC_000001.10:g.15541771_15541773del	VUS	1 lab	a3cd9af217
19:812785 PLPPR3 G>A	19	812785	812785	G	A	PLPPR3	c.1942C>T	NM_001270366.2	NP_001257295.1:p.(Gln648Ter)	NC_000019.9:g.812785G>A	VUS	1 lab	a3dea8ee38
1:52704153 ZFYVE9 G>A	1	52704153	52704153	G	A	ZFYVE9	c.1064G>A	NM_004799.4	NP_004790.2:p.(Cys355Tyr)	NC_000001.10:g.52704153G>A	(Likely) benign	1 lab	a3cea9c18f
X:13778569 OFD1 C>A	X	13778569	13778569	C	A	OFD1	c.1990C>A	NM_003611.3	NP_003602.1:p.(Pro664Thr)	NC_000023.10:g.13778569C>A	VUS	1 lab	a4c28803fa
12:122242660 SETD1B C>T	12	122242660	122242660	C	T	SETD1B	c.17C>T	NM_001353345.2	NP_001340274.1:p.(Pro6Leu)	NC_000012.11:g.122242660C>T	(Likely) benign	1 lab	a3d12c675c
20:43043314 HNF4A C>T	20	43043314	43043314	C	T	HNF4A	c.648+12C>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43043314C>T	(Likely) benign	1 lab	a3d42095fd
11:77835071 ALG8 G>A	11	77835071	77835071	G	A	ALG8	c.364C>T	NM_024079.5	NP_076984.2:p.(Arg122Cys)	NC_000011.9:g.77835071G>A	VUS	1 lab	a3d44ae6ff
7:128845531 SMO G>A	7	128845531	128845531	G	A	SMO	c.828G>A	NM_005631.5	NP_005622.1:p.(Val276=)	NC_000007.13:g.128845531G>A	VUS	1 lab	a3d7ae0803
2:163174709 IFIH1 A>G	2	163174709	163174709	A	G	IFIH1	c.109T>C	NM_022168.4	NP_071451.2:p.(Phe37Leu)	NC_000002.11:g.163174709A>G	VUS	1 lab	a3d93f25b9
19:51841459 VSIG10L G>T	19	51841459	51841459	G	T	VSIG10L	c.1733C>A	NM_001163922.3	NP_001157394.1:p.(Ala578Asp)	NC_000019.9:g.51841459G>T	VUS	1 lab	a3daea925d
19:18900838 COMP G>GGCC	19	18900838	18900841	G	GGCC	COMP	c.300_302dup	NM_000095.3	NP_000086.2:p.(Ala101dup)	NC_000019.9:g.18900839_18900841dup	VUS	1 lab	a3dc0bfe9d
17:79427946 BAHCC1 A>G	17	79427946	79427946	A	G	BAHCC1	c.6257A>G	NM_001377448.1	NP_001364377.1:p.(His2086Arg)	NC_000017.10:g.79427946A>G	(Likely) benign	1 lab	a3dc707481
10:134733557 CFAP46 A>G	10	134733557	134733557	A	G	CFAP46	c.1730+6T>C	NM_001200049.3	NP_001186978.2:p.?	NC_000010.10:g.134733557A>G	(Likely) benign	1 lab	a3dc7143c4
16:2147960 PKD1 GGT>G	16	2147960	2147965	GGT	G	PKD1	c.10074_10075del	NM_001009944.3	NP_001009944.3:p.(Pro3359CysfsTer30)	NC_000016.9:g.2147964_2147965del	(Likely) pathogenic	1 lab	a3de6ded1f
X:41099218 MISSING G>A	X	41099218	41099218	G	A	MISSING				NC_000023.10:g.41099218G>A	VUS	1 lab	a470b0f93a
2:128408826 LIMS2 G>A	2	128408826	128408826	G	A	LIMS2	c.359+3172C>T	NM_001161403.3	NP_001154875.1:p.?	NC_000002.11:g.128408826G>A	(Likely) benign	1 lab	a3df216afe
8:61654231 CHD7 G>A	8	61654231	61654231	G	A	CHD7	c.240G>A	NM_017780.4	NP_060250.2:p.(Met80Ile)	NC_000008.10:g.61654231G>A	(Likely) benign	1 lab	a3df46fd89
5:140741548 PCDHGA1 C>A	5	140741548	140741548	C	A	PCDHGA1	c.2421+28876C>A	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140741548C>A	VUS	1 lab	a3e080175f
2:16081154 MYCN TG>T	2	16081154	16081155	TG	T	MYCN	c.-118+290del	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16081155del	VUS	1 lab	a3e15359fd
4:122737549 EXOSC9 TGAA>T	4	122737549	122737561	TGAA	T	EXOSC9	c.1192_1194del	NM_005033.3	NP_005024.2:p.(Glu398del)	NC_000004.11:g.122737559_122737561del	VUS	1 lab	a3e2cd05c4
X:154221254 F8 G>T	X	154221254	154221254	G	T	F8	c.558C>A	NM_000132.3	NP_000123.1:p.(Asp186Glu)	NC_000023.10:g.154221254G>T	(Likely) pathogenic	1 lab	291513e8a8
6:157521986 ARID1B C>T	6	157521986	157521986	C	T	ARID1B	c.4627C>T	NM_001374828.1	NP_001361757.1:p.(Gln1543Ter)	NC_000006.11:g.157521986C>T	(Likely) pathogenic	1 lab	a3e650613c
3:99998485 TBC1D23 T>A	3	99998485	99998485	T	A	TBC1D23	c.54-8T>A	NM_001199198.3	NP_001186127.1:p.?	NC_000003.11:g.99998485T>A	(Likely) benign	1 lab	a3e8df142e
19:7975380 MAP2K7 C>T	19	7975380	7975380	C	T	MAP2K7	c.490C>T	NM_145185.4	NP_660186.1:p.(Leu164Phe)	NC_000019.9:g.7975380C>T	VUS	1 lab	a3e91485f2
17:30293165 SUZ12 G>T	17	30293165	30293165	G	T	SUZ12	c.456-1G>T	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30293165G>T	(Likely) benign	1 lab	a3eaf8ec6a
7:128852242 SMO C>T	7	128852242	128852242	C	T	SMO	c.2314C>T	NM_005631.5	NP_005622.1:p.(Arg772Cys)	NC_000007.13:g.128852242C>T	VUS	1 lab	a3ebd97488
12:122255176 SETD1B A>G	12	122255176	122255176	A	G	SETD1B	c.2953A>G	NM_001353345.2	NP_001340274.1:p.(Thr985Ala)	NC_000012.11:g.122255176A>G	VUS	1 lab	a3ebea59ea
8:145737713 RECQL4 G>A	8	145737713	145737713	G	A	RECQL4	c.3056-6C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145737713G>A	(Likely) benign	1 lab	291818054e
10:76781790 KAT6B G>C	10	76781790	76781790	G	C	KAT6B	c.3173G>C	NM_012330.4	NP_036462.2:p.(Arg1058Pro)	NC_000010.10:g.76781790G>C	VUS	1 lab	a3eebc0891
6:29643738 ZFP57 C>T	6	29643738	29643738	C	T	ZFP57	c.222G>A	NM_001109809.5	NP_001103279.2:p.(Ser74=)	NC_000006.11:g.29643738C>T	(Likely) benign	1 lab	a3ef41638f
2:152432784 NEB C>T	2	152432784	152432784	C	T	NEB	c.16789G>A	NM_001164508.2	NP_001157980.2:p.(Ala5597Thr)	NC_000002.11:g.152432784C>T	VUS	1 lab	a3f1293fbf
20:60897778 LAMA5 T>C	20	60897778	60897778	T	C	LAMA5	c.6101A>G	NM_005560.6	NP_005551.3:p.(Asp2034Gly)	NC_000020.10:g.60897778T>C	VUS	1 lab	a3f13b6772
18:19763010 GATA6 T>C	18	19763010	19763010	T	C	GATA6	c.1620+6T>C	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19763010T>C	(Likely) benign	1 lab	a3f1906ea4
17:15930809 TTC19 A>G	17	15930809	15930809	A	G	TTC19	c.1116A>G	NM_017775.4	NP_060245.3:p.(Arg372=)	NC_000017.10:g.15930809A>G	VUS	1 lab	a3f260b69b
8:97172796 GDF6 C>A	8	97172796	97172796	C	A	GDF6	c.125G>T	NM_001001557.4	NP_001001557.1:p.(Gly42Val)	NC_000008.10:g.97172796C>A	(Likely) benign	1 lab	a3f31f96f9
17:7751572 KDM6B G>T	17	7751572	7751572	G	T	KDM6B	c.1966G>T	NM_001348716.2	NP_001335645.1:p.(Val656Leu)	NC_000017.10:g.7751572G>T	VUS	1 lab	a3f4d4e8f1
11:552108 LRRC56 C>G	11	552108	552108	C	G	LRRC56	c.1057C>G	NM_198075.4	NP_932341.1:p.(Gln353Glu)	NC_000011.9:g.552108C>G	(Likely) benign	1 lab	a3f59790e2
17:41245485 BRCA1 G>T	17	41245485	41245485	G	T	BRCA1	c.2063C>A	NM_007294.4	NP_009225.1:p.(Thr688Lys)	NC_000017.10:g.41245485G>T	VUS	1 lab	a3f781178a
20:1299013 SDCBP2 G>A	20	1299013	1299013	G	A	SDCBP2	c.174C>T	NM_080489.5	NP_536737.3:p.(Leu58=)	NC_000020.10:g.1299013G>A	(Likely) benign	1 lab	a3f7be0f83
17:42988013 GFAP C>T	17	42988013	42988013	C	T	GFAP	c.1141G>A	NM_002055.5	NP_002046.1:p.(Val381Met)	NC_000017.10:g.42988013C>T	VUS	1 lab	a3f87924da
10:127505043 UROS G>T	10	127505043	127505043	G	T	UROS	c.26C>A	NM_000375.3	NP_000366.1:p.(Ala9Glu)	NC_000010.10:g.127505043G>T	VUS	1 lab	a3f9d572b1
22:19748694 TBX1 G>A	22	19748694	19748694	G	A	TBX1	c.328G>A	NM_001379200.1	NP_001366129.1:p.(Val110Met)	NC_000022.10:g.19748694G>A	VUS	1 lab	a3fafbe2be
5:36143328 LMBRD2 A>C	5	36143328	36143328	A	C	LMBRD2	c.124T>G	NM_001007527.2	NP_001007528.1:p.(Trp42Gly)	NC_000005.9:g.36143328A>C	VUS	1 lab	a3fbb19cac
21:47532501 COL6A2 G>A	21	47532501	47532501	G	A	COL6A2	c.714+10G>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47532501G>A	(Likely) benign	1 lab	a3fc802cfc
7:141896607 MGAM2 C>T	7	141896607	141896607	C	T	MGAM2	c.4623C>T	NM_001293626.2	NP_001280555.1:p.(Ile1541=)	NC_000007.13:g.141896607C>T	(Likely) benign	1 lab	a3fe902b4b
4:128842860 MFSD8 G>A	4	128842860	128842860	G	A	MFSD8	c.1169C>T	NM_001371596.2	NP_001358525.1:p.(Pro390Leu)	NC_000004.11:g.128842860G>A	(Likely) benign	1 lab	a3ff246fe6
1:40928955 ZFP69B C>A	1	40928955	40928955	C	A	ZFP69B	c.1299C>A	NM_023070.3	NP_075558.2:p.(Tyr433Ter)	NC_000001.10:g.40928955C>A	VUS	1 lab	a3ff3e788b
4:8873084 HMX1 A>C	4	8873084	8873084	A	C	HMX1	c.257T>G	NM_018942.3	NP_061815.2:p.(Leu86Arg)	NC_000004.11:g.8873084A>C	VUS	1 lab	a40056f978
3:433412 CHL1 C>G	3	433412	433412	C	G	CHL1	c.2846C>G	NM_006614.4	NP_006605.2:p.(Thr949Ser)	NC_000003.11:g.433412C>G	VUS	1 lab	a402394b65
17:70120245 SOX9 A>G	17	70120245	70120245	A	G	SOX9	c.1247A>G	NM_000346.4	NP_000337.1:p.(Gln416Arg)	NC_000017.10:g.70120245A>G	VUS	1 lab	a4028b977c
9:139282902 SNAPC4 G>A	9	139282902	139282902	G	A	SNAPC4	c.1117C>T	NM_003086.4	NP_003077.2:p.(Arg373Cys)	NC_000009.11:g.139282902G>A	VUS	1 lab	a403022533
19:4512126 PLIN4 C>T	19	4512126	4512126	C	T	PLIN4	c.1846G>A	NM_001367868.2	NP_001354797.1:p.(Val616Ile)	NC_000019.9:g.4512126C>T	(Likely) benign	1 lab	a4049c44e1
16:30991321 SETD1A C>A	16	30991321	30991321	C	A	SETD1A	c.4214C>A	NM_014712.3	NP_055527.1:p.(Pro1405His)	NC_000016.9:g.30991321C>A	(Likely) benign	1 lab	a404a77b1e
1:120458593 NOTCH2 G>GCTGGGA	1	120458593	120458609	G	GCTGGGA	NOTCH2	c.6746_6751dup	NM_024408.4	NP_077719.2:p.(Val2249_Pro2250dup)	NC_000001.10:g.120458604_120458609dup	VUS	1 lab	a406dc65a2
7:103230285 RELN G>A	7	103230285	103230285	G	A	RELN	c.3913-10C>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103230285G>A	(Likely) benign	1 lab	291e98301d
22:42610256 TCF20 A>G	22	42610256	42610256	A	G	TCF20	c.1056T>C	NM_001378418.1	NP_001365347.1:p.(Val352=)	NC_000022.10:g.42610256A>G	(Likely) benign	1 lab	a4085751cc
X:46332335 KRABD4 A>G	X	46332335	46332335	A	G	KRABD4	c.404A>G	NM_001129898.2	NP_001123370.1:p.(Glu135Gly)	NC_000023.10:g.46332335A>G	(Likely) benign	1 lab	a40a3202da
15:89398839 ACAN T>C	15	89398839	89398839	T	C	ACAN	c.3023T>C	NM_001369268.1	NP_001356197.1:p.(Val1008Ala)	NC_000015.9:g.89398839T>C	VUS	1 lab	a40bedfe9d
9:80932644 PSAT1 G>A	9	80932644	80932644	G	A	PSAT1	c.793G>A	NM_058179.4	NP_478059.1:p.(Ala265Thr)	NC_000009.11:g.80932644G>A	(Likely) benign	1 lab	a40c908551
11:654641 DEAF1 G>A	11	654641	654641	G	A	DEAF1	c.1504-590C>T	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.654641G>A	VUS	1 lab	a40ec5a663
11:66619303 PC T>C	11	66619303	66619303	T	C	PC	c.1940A>G	NM_001040716.2	NP_001035806.1:p.(Asn647Ser)	NC_000011.9:g.66619303T>C	VUS	1 lab	a412646aa3
15:99442700 IGF1R A>G	15	99442700	99442700	A	G	IGF1R	c.1103-6A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99442700A>G	VUS	1 lab	a4127fc20b
14:21863230 CHD8 G>A	14	21863230	21863230	G	A	CHD8	c.5231C>T	NM_001170629.2	NP_001164100.1:p.(Ala1744Val)	NC_000014.8:g.21863230G>A	VUS	1 lab	a4130be583
11:105845075 GRIA4 C>T	11	105845075	105845075	C	T	GRIA4	c.2448C>T	NM_000829.4	NP_000820.4:p.(Gly816=)	NC_000011.9:g.105845075C>T	(Likely) benign	1 lab	292086d01e
4:4190576 OTOP1 C>G	4	4190576	4190576	C	G	OTOP1	c.1793G>C	NM_177998.3	NP_819056.1:p.(Arg598Pro)	NC_000004.11:g.4190576C>G	VUS	1 lab	a413805b5d
9:2029197 SMARCA2 A>T	9	2029197	2029197	A	T	SMARCA2	c.175A>T	NM_003070.5	NP_003061.3:p.(Thr59Ser)	NC_000009.11:g.2029197A>T	(Likely) benign	1 lab	a4141deb2e
10:49392643 FRMPD2 AGG>A	10	49392643	49392647	AGG	A	FRMPD2	c.2548_2549del	NM_001018071.4	NP_001018081.4:p.(Pro850Ter)	NC_000010.10:g.49392646_49392647del	VUS	1 lab	a414fad60a
12:7080212 EMG1 T>T	12	7080212	7080212	T	T	EMG1	c.126G>T	NM_006331.8	NP_006322.4:p.(Arg42Ser)	NC_000012.11:g.7080212=	(Likely) benign	1 lab	a4153fcf3b
1:211256428 KCNH1 T>C	1	211256428	211256428	T	C	KCNH1	c.440-188A>G	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211256428T>C	(Likely) benign	1 lab	a415dce5a1
22:21288531 CRKL A>C	22	21288531	21288531	A	C	CRKL	c.776A>C	NM_005207.4	NP_005198.1:p.(Glu259Ala)	NC_000022.10:g.21288531A>C	VUS	1 lab	a4161a1dae
15:89414675 ACAN G>C	15	89414675	89414675	G	C	ACAN	c.7123G>C	NM_001369268.1	NP_001356197.1:p.(Asp2375His)	NC_000015.9:g.89414675G>C	VUS	1 lab	a41a17c4f9
14:21862472 CHD8 G>A	14	21862472	21862472	G	A	CHD8	c.5563C>T	NM_001170629.2	NP_001164100.1:p.(Arg1855Cys)	NC_000014.8:g.21862472G>A	VUS	1 lab	a41a550f51
9:131482252 PKN3 T>A	9	131482252	131482252	T	A	PKN3	c.2332T>A	NM_013355.5	NP_037487.2:p.(Tyr778Asn)	NC_000009.11:g.131482252T>A	VUS	1 lab	a41a914208
13:114538594 GAS6 C>T	13	114538594	114538594	C	T	GAS6	c.604G>A	NM_000820.4	NP_000811.1:p.(Ala202Thr)	NC_000013.10:g.114538594C>T	(Likely) benign	1 lab	a41deaf06d
3:12977366 IQSEC1 G>A	3	12977366	12977366	G	A	IQSEC1	c.1150C>T	NM_001134382.3	NP_001127854.1:p.(Arg384Trp)	NC_000003.11:g.12977366G>A	VUS	1 lab	a41e59620d
15:89864001 POLG G>A	15	89864001	89864001	G	A	POLG	c.2977C>T	NM_002693.3	NP_002684.1:p.(Arg993Cys)	NC_000015.9:g.89864001G>A	VUS	1 lab	a420a96955
X:74742808 ZDHHC15 G>A	X	74742808	74742808	G	A	ZDHHC15	c.52C>T	NM_144969.3	NP_659406.1:p.(Arg18Trp)	NC_000023.10:g.74742808G>A	VUS	1 lab	a4215daa52
12:116420913 MED13L A>G	12	116420913	116420913	A	G	MED13L	c.4955+9T>C	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116420913A>G	(Likely) benign	1 lab	a42544091c
17:65343333 PSMD12 G>A	17	65343333	65343333	G	A	PSMD12	c.694C>T	NM_002816.5	NP_002807.1:p.(Gln232Ter)	NC_000017.10:g.65343333G>A	VUS	1 lab	a425edf48f
2:74128448 ACTG2 G>C	2	74128448	74128448	G	C	ACTG2	c.10G>C	NM_001615.4	NP_001606.1:p.(Glu4Gln)	NC_000002.11:g.74128448G>C	VUS	1 lab	a4276fec40
1:247608014 NLRP3 A>G	1	247608014	247608014	A	G	NLRP3	c.2896A>G	NM_001243133.2	NP_001230062.1:p.(Ser966Gly)	NC_000001.10:g.247608014A>G	(Likely) benign	1 lab	a427a5e473
4:96025568 BMPR1B T>C	4	96025568	96025568	T	C	BMPR1B	c.-8T>C	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.96025568T>C	VUS	1 lab	a4285784dc
15:61521287 RORA G>A	15	61521287	61521287	G	A	RORA	c.131C>T	NM_134261.3	NP_599023.1:p.(Pro44Leu)	NC_000015.9:g.61521287G>A	(Likely) benign	1 lab	a428fe2668
16:88804648 PIEZO1 C>T	16	88804648	88804648	C	T	PIEZO1	c.835G>A	NM_001142864.4	NP_001136336.2:p.(Gly279Ser)	NC_000016.9:g.88804648C>T	(Likely) benign	1 lab	a429b35a3c
5:170692701 RANBP17 C>T	5	170692701	170692701	C	T	RANBP17	c.2793C>T	NM_022897.5	NP_075048.1:p.(Ser931=)	NC_000005.9:g.170692701C>T	VUS	1 lab	a429e738d2
5:42689005 GHR G>A	5	42689005	42689005	G	A	GHR	c.150G>A	NM_000163.5	NP_000154.1:p.(Glu50=)	NC_000005.9:g.42689005G>A	(Likely) benign	1 lab	a42acb6726
20:49509372 ADNP A>C	20	49509372	49509372	A	C	ADNP	c.1879T>G	NM_001282531.3	NP_001269460.1:p.(Cys627Gly)	NC_000020.10:g.49509372A>C	VUS	1 lab	a42bf29da1
1:144930940 PDE4DIP T>C	1	144930940	144930940	T	C	PDE4DIP	c.835-7119A>G	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144930940T>C	VUS	1 lab	a42c603776
2:166019105 SCN3A T>A	2	166019105	166019105	T	A	SCN3A	c.928A>T	NM_006922.4	NP_008853.3:p.(Met310Leu)	NC_000002.11:g.166019105T>A	(Likely) benign	1 lab	a42ccfaa34
16:29825657 PRRT2 C>T	16	29825657	29825657	C	T	PRRT2	c.883C>T	NM_145239.3	NP_660282.2:p.(Arg295Trp)	NC_000016.9:g.29825657C>T	VUS	1 lab	a42edbb23c
9:14155900 NFIB T>C	9	14155900	14155900	T	C	NFIB	c.617-8A>G	NM_001190737.2	NP_001177666.1:p.?	NC_000009.11:g.14155900T>C	(Likely) benign	1 lab	a430c2d03f
11:47463440 RAPSN G>A	11	47463440	47463440	G	A	RAPSN	c.724C>T	NM_005055.5	NP_005046.2:p.(Arg242Trp)	NC_000011.9:g.47463440G>A	VUS	1 lab	a430cfa8d4
17:57093167 TRIM37 A>G	17	57093167	57093167	A	G	TRIM37	c.2387-7T>C	NM_015294.6	NP_056109.1:p.?	NC_000017.10:g.57093167A>G	(Likely) benign	1 lab	a430d1d4de
8:61750666 CHD7 A>G	8	61750666	61750666	A	G	CHD7	c.4385A>G	NM_017780.4	NP_060250.2:p.(Asp1462Gly)	NC_000008.10:g.61750666A>G	VUS	1 lab	a430de27a9
16:773030 CCDC78 G>A	16	773030	773030	G	A	CCDC78	c.1201-8C>T	NM_001378030.1	NP_001364959.1:p.?	NC_000016.9:g.773030G>A	(Likely) benign	1 lab	a431b335f2
17:61995763 GH1 G>C	17	61995763	61995763	G	C	GH1	c.114C>G	NM_000515.5	NP_000506.2:p.(Asn38Lys)	NC_000017.10:g.61995763G>C	VUS	1 lab	a431fd6087
1:150676650 HORMAD1 C>T	1	150676650	150676650	C	T	HORMAD1	c.892G>A	NM_032132.5	NP_115508.2:p.(Glu298Lys)	NC_000001.10:g.150676650C>T	(Likely) benign	1 lab	a4324ae936
2:233199407 DIS3L2 G>T	2	233199407	233199407	G	T	DIS3L2	c.2356G>T	NM_152383.5	NP_689596.4:p.(Val786Leu)	NC_000002.11:g.233199407G>T	VUS	1 lab	a43272d835
19:1467434 APC2 CGCCCCG>C	19	1467434	1467450	CGCCCCG	C	APC2	c.4145_4150del	NM_005883.3	NP_005874.1:p.(Pro1382_Ala1383del)	NC_000019.9:g.1467445_1467450del	VUS	1 lab	a434ef659e
19:31769987 TSHZ3 GCC>G	19	31769987	31769991	GCC	G	TSHZ3	c.710_711del	NM_020856.4	NP_065907.2:p.(Gly237AlafsTer8)	NC_000019.9:g.31769990_31769991del	VUS	1 lab	a4350879b6
16:5131064 ALG1 G>C	16	5131064	5131064	G	C	ALG1	c.1072+7G>C	NM_019109.5	NP_061982.3:p.?	NC_000016.9:g.5131064G>C	(Likely) benign	1 lab	a436acf299
21:33691527 URB1 C>T	21	33691527	33691527	C	T	URB1	c.5792G>A	NM_014825.3	NP_055640.2:p.(Arg1931Lys)	NC_000021.8:g.33691527C>T	(Likely) benign	1 lab	a43749986c
1:154241440 UBAP2L C>A	1	154241440	154241440	C	A	UBAP2L	c.3168+10C>A	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154241440C>A	VUS	1 lab	a4378c88e1
2:202357301 CATSPERT A>T	2	202357301	202357301	A	T	CATSPERT	c.3763T>A	NM_001168221.2	NP_001161693.1:p.(Ser1255Thr)	NC_000002.11:g.202357301A>T	(Likely) benign	1 lab	a437ad47c1
5:42719151 GHR T>G	5	42719151	42719151	T	G	GHR	c.1542T>G	NM_000163.5	NP_000154.1:p.(Cys514Trp)	NC_000005.9:g.42719151T>G	(Likely) benign	1 lab	a439f90fea
12:121437174 HNF1A C>A	12	121437174	121437174	C	A	HNF1A	c.1605C>A	NM_000545.8	NP_000536.6:p.(Ser535Arg)	NC_000012.11:g.121437174C>A	VUS	1 lab	a43af600fc
5:134223868 TXNDC15 C>T	5	134223868	134223868	C	T	TXNDC15	c.587C>T	NM_024715.4	NP_078991.3:p.(Ser196Leu)	NC_000005.9:g.134223868C>T	VUS	1 lab	a43cafc61e
10:72360214 PRF1 C>T	10	72360214	72360214	C	T	PRF1	c.445G>A	NM_001083116.1	NP_001076585.1:p.(Gly149Ser)	NC_000010.10:g.72360214C>T	VUS	1 lab	32b2dde288
13:102029262 NALCN G>A	13	102029262	102029262	G	A	NALCN	c.515+6C>T	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.102029262G>A	(Likely) benign	1 lab	a43f6751d6
22:18273532 MICAL3 A>C	22	18273532	18273532	A	C	MICAL3	c.5975T>G	NM_015241.3	NP_056056.2:p.(Met1992Arg)	NC_000022.10:g.18273532A>C	VUS	1 lab	a44099c8cd
3:4704754 ITPR1 T>C	3	4704754	4704754	T	C	ITPR1	c.1418T>C	NM_001378452.1	NP_001365381.1:p.(Val473Ala)	NC_000003.11:g.4704754T>C	VUS	1 lab	a4626778d4
6:117237382 RFX6 C>T	6	117237382	117237382	C	T	RFX6	c.877C>T	NM_173560.4	NP_775831.2:p.(His293Tyr)	NC_000006.11:g.117237382C>T	VUS	1 lab	a440e96c2f
1:243727160 AKT3 A>C	1	243727160	243727160	A	C	AKT3	c.820-10T>G	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243727160A>C	(Likely) benign	1 lab	a441c9a668
9:35061594 VCP C>T	9	35061594	35061594	C	T	VCP	c.1174G>A	NM_007126.5	NP_009057.1:p.(Asp392Asn)	NC_000009.11:g.35061594C>T	VUS	1 lab	a441e3262f
21:46281104 PTTG1IP C>T	21	46281104	46281104	C	T	PTTG1IP	c.251G>A	NM_004339.4	NP_004330.1:p.(Ser84Asn)	NC_000021.8:g.46281104C>T	(Likely) benign	1 lab	a442d6483f
4:141832468 RNF150 T>C	4	141832468	141832468	T	C	RNF150	c.1028A>G	NM_020724.2	NP_065775.1:p.(Glu343Gly)	NC_000004.11:g.141832468T>C	VUS	1 lab	a442fb4ad1
19:55672455 DNAAF3 G>A	19	55672455	55672455	G	A	DNAAF3	c.890C>T	NM_001256715.2	NP_001243644.1:p.(Thr297Met)	NC_000019.9:g.55672455G>A	VUS	1 lab	a4436ae59e
3:186335056 AHSG G>A	3	186335056	186335056	G	A	AHSG	c.490G>A	NM_001622.4	NP_001613.2:p.(Ala164Thr)	NC_000003.11:g.186335056G>A	(Likely) benign	1 lab	a4464e9508
14:105418643 AHNAK2 G>C	14	105418643	105418643	G	C	AHNAK2	c.3145C>G	NM_138420.4	NP_612429.2:p.(Gln1049Glu)	NC_000014.8:g.105418643G>C	(Likely) benign	1 lab	a448afe8ed
1:19204023 ALDH4A1 CGA>C	1	19204023	19204025	CGA	C	ALDH4A1	c.1022_1023del	NM_003748.4	NP_003739.2:p.(Phe341Ter)	NC_000001.10:g.19204024_19204025del	(Likely) pathogenic	1 lab	a448c0278a
9:97372274 FBP1 C>A	9	97372274	97372274	C	A	FBP1	c.496G>T	NM_000507.4	NP_000498.2:p.(Ala166Ser)	NC_000009.11:g.97372274C>A	VUS	1 lab	a448f56a9b
X:73524175 ZCCHC13 G>C	X	73524175	73524175	G	C	ZCCHC13	c.74G>C	NM_203303.3	NP_976048.1:p.(Gly25Ala)	NC_000023.10:g.73524175G>C	(Likely) benign	1 lab	a44a18dda9
20:61470100 COL9A3 C>A	20	61470100	61470100	C	A	COL9A3	c.1851C>A	NM_001853.4	NP_001844.3:p.(Asp617Glu)	NC_000020.10:g.61470100C>A	VUS	1 lab	a44b4eb7b2
13:101776978 NALCN C>T	13	101776978	101776978	C	T	NALCN	c.2173G>A	NM_052867.4	NP_443099.1:p.(Ala725Thr)	NC_000013.10:g.101776978C>T	VUS	1 lab	a44b6258dc
22:50723094 PLXNB2 C>A	22	50723094	50723094	C	A	PLXNB2	c.2089G>T	NM_012401.4	NP_036533.2:p.(Gly697Cys)	NC_000022.10:g.50723094C>A	VUS	1 lab	a44f876554
17:60556629 TLK2 A>AGCG	17	60556629	60556649	A	AGCG	TLK2	c.-10_-8dup	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60556647_60556649dup	VUS	1 lab	a451159a8c
3:38938382 SCN11A AATG>A	3	38938382	38938394	AATG	A	SCN11A	c.2354_2356del	NM_001349253.2	NP_001336182.1:p.(Ser785del)	NC_000003.11:g.38938392_38938394del	(Likely) benign	1 lab	a45312ee5e
X:77158223 COX7B T>G	X	77158223	77158223	T	G	COX7B	c.124T>G	NM_001866.3	NP_001857.1:p.(Leu42Val)	NC_000023.10:g.77158223T>G	VUS	1 lab	a4532eed89
7:87757896 ADAM22 GTTTCC>G	7	87757896	87757907	GTTTCC	G	ADAM22	c.679-14_679-10del	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87757903_87757907del	(Likely) benign	1 lab	a454a78293
6:117201701 RFX6 T>G	6	117201701	117201701	T	G	RFX6	c.381-6T>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117201701T>G	(Likely) benign	1 lab	a454d64bf5
1:151396720 POGZ A>G	1	151396720	151396720	A	G	POGZ	c.1228T>C	NM_015100.4	NP_055915.2:p.(Ser410Pro)	NC_000001.10:g.151396720A>G	(Likely) benign	1 lab	a45713fb61
1:155408757 ASH1L A>G	1	155408757	155408757	A	G	ASH1L	c.5189T>C	NM_018489.3	NP_060959.2:p.(Met1730Thr)	NC_000001.10:g.155408757A>G	VUS	1 lab	a45845bc68
7:36489458 ANLN C>G	7	36489458	36489458	C	G	ANLN	c.3251+12C>G	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36489458C>G	(Likely) benign	1 lab	292ceec629
4:79343101 FRAS1 G>A	4	79343101	79343101	G	A	FRAS1	c.4625G>A	NM_025074.7	NP_079350.5:p.(Arg1542His)	NC_000004.11:g.79343101G>A	VUS	1 lab	27b5d63c89
14:105410111 AHNAK2 T>A	14	105410111	105410111	T	A	AHNAK2	c.11677A>T	NM_138420.4	NP_612429.2:p.(Ser3893Cys)	NC_000014.8:g.105410111T>A	(Likely) benign	1 lab	a45929cd1d
5:54581164 DHX29 T>C	5	54581164	54581164	T	C	DHX29	c.1313A>G	NM_019030.4	NP_061903.2:p.(His438Arg)	NC_000005.9:g.54581164T>C	VUS	1 lab	a45a0b8a23
16:89258504 CDH15 G>A	16	89258504	89258504	G	A	CDH15	c.1616-109G>A	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89258504G>A	(Likely) benign	1 lab	a45e013572
1:225239276 DNAH14 A>G	1	225239276	225239276	A	G	DNAH14	c.2203A>G	NM_001367479.1	NP_001354408.1:p.(Met735Val)	NC_000001.10:g.225239276A>G	(Likely) benign	1 lab	a45e75177d
X:27765649 DCAF8L2 G>A	X	27765649	27765649	G	A	DCAF8L2	c.637G>A	NM_001353450.2	NP_001340379.1:p.(Ala213Thr)	NC_000023.10:g.27765649G>A	(Likely) benign	1 lab	a45fcd2c58
19:15366908 BRD4 G>A	19	15366908	15366908	G	A	BRD4	c.1718C>T	NM_001379291.1	NP_001366220.1:p.(Thr573Met)	NC_000019.9:g.15366908G>A	VUS	1 lab	a460354022
16:56545072 BBS2 G>A	16	56545072	56545072	G	A	BBS2	c.470C>T	NM_031885.5	NP_114091.4:p.(Thr157Met)	NC_000016.9:g.56545072G>A	VUS	1 lab	a460eb5070
20:60890271 LAMA5 G>A	20	60890271	60890271	G	A	LAMA5	c.7868-8C>T	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60890271G>A	(Likely) benign	1 lab	a462875e02
5:37176081 CPLANE1 C>T	5	37176081	37176081	C	T	CPLANE1	c.5908G>A	NM_001384732.1	NP_001371661.1:p.(Glu1970Lys)	NC_000005.9:g.37176081C>T	VUS	1 lab	a462a04d7a
19:5831634 FUT6 G>T	19	5831634	5831634	G	T	FUT6	c.945C>A	NM_000150.4	NP_000141.1:p.(Tyr315Ter)	NC_000019.9:g.5831634G>T	(Likely) benign	1 lab	a462f1a6f6
11:3846558 PGAP2 T>C	11	3846558	3846558	T	C	PGAP2	c.989T>C	NM_001256236.1	NP_001243165.1:p.(Val330Ala)	NC_000011.9:g.3846558T>C	VUS	1 lab	27b6f49e6d
9:86474241 KIF27 G>T	9	86474241	86474241	G	T	KIF27	c.2980C>A	NM_017576.4	NP_060046.1:p.(Leu994Met)	NC_000009.11:g.86474241G>T	(Likely) benign	1 lab	a467ccf07f
6:31733544 VWA7 G>A	6	31733544	31733544	G	A	VWA7	c.2503C>T	NM_025258.3	NP_079534.2:p.(Arg835Trp)	NC_000006.11:g.31733544G>A	VUS	1 lab	a467eea7c6
6:117243322 RFX6 T>G	6	117243322	117243322	T	G	RFX6	c.1437+8T>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243322T>G	(Likely) benign	1 lab	a4690ee8d9
2:219029088 CXCR1 T>A	2	219029088	219029088	T	A	CXCR1	c.847A>T	NM_000634.3	NP_000625.1:p.(Ile283Phe)	NC_000002.11:g.219029088T>A	(Likely) benign	1 lab	a46ac6befd
4:85731049 WDFY3 G>C	4	85731049	85731049	G	C	WDFY3	c.2336C>G	NM_014991.6	NP_055806.2:p.(Ser779Cys)	NC_000004.11:g.85731049G>C	VUS	1 lab	a46bbe978b
7:75689816 MDH2 G>A	7	75689816	75689816	G	A	MDH2	c.555G>A	NM_005918.4	NP_005909.2:p.(Lys185=)	NC_000007.13:g.75689816G>A	(Likely) benign	1 lab	a46f0218f7
5:176637207 NSD1 T>C	5	176637207	176637207	T	C	NSD1	c.1807T>C	NM_022455.5	NP_071900.2:p.(Ser603Pro)	NC_000005.9:g.176637207T>C	VUS	1 lab	a46ff7256d
7:47925423 PKD1L1 C>T	7	47925423	47925423	C	T	PKD1L1	c.3066G>A	NM_138295.5	NP_612152.1:p.(Ala1022=)	NC_000007.13:g.47925423C>T	VUS	1 lab	a470d2980d
11:64023297 PLCB3 A>T	11	64023297	64023297	A	T	PLCB3	c.698+4A>T	NM_000932.5	NP_000923.1:p.?	NC_000011.9:g.64023297A>T	VUS	1 lab	a47165c0e2
14:51206145 NIN A>T	14	51206145	51206145	A	T	NIN	c.5509T>A	NM_020921.4	NP_065972.4:p.(Ser1837Thr)	NC_000014.8:g.51206145A>T	(Likely) benign	1 lab	a473ee74ba
5:147505145 SPINK5 G>A	5	147505145	147505145	G	A	SPINK5	c.2740-141G>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147505145G>A	(Likely) benign	1 lab	a4758039b9
22:42608355 TCF20 G>A	22	42608355	42608355	G	A	TCF20	c.2957C>T	NM_001378418.1	NP_001365347.1:p.(Thr986Met)	NC_000022.10:g.42608355G>A	(Likely) benign	1 lab	a478460cb4
19:1037645 CNN2 AC>A	19	1037645	1037648	AC	A	CNN2	c.679del	NM_004368.4	NP_004359.1:p.(Arg227GlyfsTer113)	NC_000019.9:g.1037648del	(Likely) benign	1 lab	a4790db6ad
8:16885062 MICU3 G>A	8	16885062	16885062	G	A	MICU3	c.274G>A	NM_181723.3	NP_859074.1:p.(Gly92Ser)	NC_000008.10:g.16885062G>A	(Likely) benign	1 lab	a47914731e
15:99439998 IGF1R C>T	15	99439998	99439998	C	T	IGF1R	c.966C>T	NM_000875.5	NP_000866.1:p.(Ile322=)	NC_000015.9:g.99439998C>T	(Likely) benign	1 lab	a47a9e9ca9
2:20146277 WDR35 G>T	2	20146277	20146277	G	T	WDR35	c.1579C>A	NM_020779.4	NP_065830.2:p.(Gln527Lys)	NC_000002.11:g.20146277G>T	VUS	1 lab	a47ab3afe3
12:124218482 ATP6V0A2 A>G	12	124218482	124218482	A	G	ATP6V0A2	c.658A>G	NM_012463.4	NP_036595.2:p.(Ile220Val)	NC_000012.11:g.124218482A>G	(Likely) benign	1 lab	a47b0a7e27
17:42987844 GFAP C>T	17	42987844	42987844	C	T	GFAP	c.1171+139G>A	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987844C>T	VUS	1 lab	a47b1b2fdf
16:88789053 PIEZO1 G>C	16	88789053	88789053	G	C	PIEZO1	c.4713C>G	NM_001142864.4	NP_001136336.2:p.(Ser1571Arg)	NC_000016.9:g.88789053G>C	(Likely) benign	1 lab	a47bbff667
7:47915814 PKD1L1 T>C	7	47915814	47915814	T	C	PKD1L1	c.3665A>G	NM_138295.5	NP_612152.1:p.(Asp1222Gly)	NC_000007.13:g.47915814T>C	VUS	1 lab	a47c1e5135
4:6279191 WFS1 C>T	4	6279191	6279191	C	T	WFS1	c.9C>T	NM_006005.3	NP_005996.2:p.(Ser3=)	NC_000004.11:g.6279191C>T	(Likely) benign	1 lab	a47d57644e
12:50047117 FMNL3 A>G	12	50047117	50047117	A	G	FMNL3	c.1222-7T>C	NM_175736.5	NP_783863.4:p.?	NC_000012.11:g.50047117A>G	VUS	1 lab	a47e9c6e27
19:7117173 INSR G>A	19	7117173	7117173	G	A	INSR	c.4043C>T	NM_000208.4	NP_000199.2:p.(Ser1348Leu)	NC_000019.9:g.7117173G>A	VUS	1 lab	a4806cef67
9:94486744 ROR2 A>G	9	94486744	94486744	A	G	ROR2	c.2032T>C	NM_004560.4	NP_004551.2:p.(Tyr678His)	NC_000009.11:g.94486744A>G	VUS	1 lab	a48232e959
5:171766082 SH3PXD2B T>G	5	171766082	171766082	T	G	SH3PXD2B	c.2027A>C	NM_001017995.3	NP_001017995.1:p.(Gln676Pro)	NC_000005.9:g.171766082T>G	VUS	1 lab	a482ab70c6
11:118516453 PHLDB1 C>T	11	118516453	118516453	C	T	PHLDB1	c.3417C>T	NM_001144758.3	NP_001138230.1:p.(Ser1139=)	NC_000011.9:g.118516453C>T	VUS	1 lab	a486e29600
3:14768415 C3orf20 G>A	3	14768415	14768415	G	A	C3orf20	c.1574G>A	NM_032137.5	NP_115513.4:p.(Arg525His)	NC_000003.11:g.14768415G>A	VUS	1 lab	a4883f0cd6
2:10220193 CYS1 G>A	2	10220193	10220193	G	A	CYS1	c.158C>T	NM_001037160.3	NP_001032237.1:p.(Ala53Val)	NC_000002.11:g.10220193G>A	VUS	1 lab	a4891928fb
9:125772780 RABGAP1 TCTC>T	9	125772780	125772787	TCTC	T	RABGAP1	c.1527_1529del	NM_012197.4	NP_036329.3:p.(Pro510del)	NC_000009.11:g.125772785_125772787del	VUS	1 lab	a489988ee0
1:152277725 FLG A>G	1	152277725	152277725	A	G	FLG	c.9637T>C	NM_002016.2	NP_002007.1:p.(Ser3213Pro)	NC_000001.10:g.152277725A>G	(Likely) benign	1 lab	a48b2ac001
17:44109642 KANSL1 C>T	17	44109642	44109642	C	T	KANSL1	c.2861G>A	NM_015443.4	NP_056258.1:p.(Arg954Gln)	NC_000017.10:g.44109642C>T	(Likely) benign	1 lab	a48dc54e14
15:34040331 RYR3 G>A	15	34040331	34040331	G	A	RYR3	c.8006G>A	NM_001036.6	NP_001027.3:p.(Arg2669His)	NC_000015.9:g.34040331G>A	(Likely) benign	1 lab	a48df0c6d2
14:92439123 TRIP11 A>G	14	92439123	92439123	A	G	TRIP11	c.5657T>C	NM_004239.4	NP_004230.2:p.(Met1886Thr)	NC_000014.8:g.92439123A>G	(Likely) benign	1 lab	a48eabcdf6
1:179033601 FAM20B G>A	1	179033601	179033601	G	A	FAM20B	c.908G>A	NM_014864.4	NP_055679.1:p.(Ser303Asn)	NC_000001.10:g.179033601G>A	VUS	1 lab	a48f39e46c
6:42934606 PEX6 C>T	6	42934606	42934606	C	T	PEX6	c.1885-10G>A	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42934606C>T	VUS	1 lab	a4908e40f6
15:99459356 IGF1R C>T	15	99459356	99459356	C	T	IGF1R	c.1992C>T	NM_000875.5	NP_000866.1:p.(Ser664=)	NC_000015.9:g.99459356C>T	(Likely) benign	1 lab	a49129251f
4:3491384 DOK7 G>A	4	3491384	3491384	G	A	DOK7	c.653-20G>A	NM_173660.5	NP_775931.3:p.?	NC_000004.11:g.3491384G>A	(Likely) benign	1 lab	a49159ae55
16:3778993 CREBBP C>G	16	3778993	3778993	C	G	CREBBP	c.6055G>C	NM_004380.3	NP_004371.2:p.(Gly2019Arg)	NC_000016.9:g.3778993C>G	VUS	1 lab	a491c35e9d
10:21074842 NEBL C>G	10	21074842	21074842	C	G	NEBL	c.2879G>C	NM_006393.3	NP_006384.1:p.(Arg960Pro)	NC_000010.10:g.21074842C>G	VUS	1 lab	a493ecf1ca
21:44483093 CBS G>A	21	44483093	44483093	G	A	CBS	c.924C>T	NM_000071.3	NP_000062.1:p.(Tyr308=)	NC_000021.8:g.44483093G>A	(Likely) benign	1 lab	a494b05a48
8:26435783 DPYSL2 G>A	8	26435783	26435783	G	A	DPYSL2	c.355-3702G>A	NM_001197293.3	NP_001184222.1:p.?	NC_000008.10:g.26435783G>A	VUS	1 lab	a494fc8266
7:101713691 CUX1 G>A	7	101713691	101713691	G	A	CUX1	c.262G>A	NM_181552.4	NP_853530.2:p.(Val88Ile)	NC_000007.13:g.101713691G>A	(Likely) benign	1 lab	a496505b3b
X:40464900 ATP6AP2 G>A	X	40464900	40464900	G	A	ATP6AP2	c.946G>A	NM_005765.3	NP_005756.2:p.(Ala316Thr)	NC_000023.10:g.40464900G>A	VUS	1 lab	27bd53379c
5:36985446 NIPBL C>T	5	36985446	36985446	C	T	NIPBL	c.2164C>T	NM_133433.4	NP_597677.2:p.(Pro722Ser)	NC_000005.9:g.36985446C>T	(Likely) benign	1 lab	a4982040cc
4:113360884 ALPK1 C>A	4	113360884	113360884	C	A	ALPK1	c.3394C>A	NM_025144.4	NP_079420.3:p.(Pro1132Thr)	NC_000004.11:g.113360884C>A	(Likely) benign	1 lab	a498fc71ba
3:133374212 TOPBP1 T>C	3	133374212	133374212	T	C	TOPBP1	c.664A>G	NM_007027.4	NP_008958.2:p.(Thr222Ala)	NC_000003.11:g.133374212T>C	VUS	1 lab	a4992f3362
15:41810326 RPAP1 G>A	15	41810326	41810326	G	A	RPAP1	c.3850C>T	NM_015540.4	NP_056355.2:p.(Leu1284Phe)	NC_000015.9:g.41810326G>A	VUS	1 lab	a49a875076
2:179476825 TTN C>A	2	179476825	179476825	C	A	TTN	c.50313G>T	NM_001267550.2	NP_001254479.2:p.(Lys16771Asn)	NC_000002.11:g.179476825C>A	(Likely) benign	1 lab	a49bb46232
8:30557599 GSR C>T	8	30557599	30557599	C	T	GSR	c.694G>A	NM_000637.5	NP_000628.2:p.(Gly232Ser)	NC_000008.10:g.30557599C>T	VUS	1 lab	a49d68d790
17:64881146 CACNG5 C>T	17	64881146	64881146	C	T	CACNG5	c.617C>T	NM_145811.3	NP_665810.1:p.(Ala206Val)	NC_000017.10:g.64881146C>T	(Likely) benign	1 lab	a49e8ba0ff
14:55369262 GCH1 C>CG	14	55369262	55369267	C	CG	GCH1	c.119dup	NM_000161.3	NP_000152.1:p.(Arg41AlafsTer24)	NC_000014.8:g.55369267dup	(Likely) pathogenic	1 lab	a49f352179
X:54044228 PHF8 G>T	X	54044228	54044228	G	T	PHF8	c.320C>A	NM_015107.3	NP_055922.1:p.(Thr107Asn)	NC_000023.10:g.54044228G>T	(Likely) benign	1 lab	a4a05fc879
4:1720312 TMEM129 G>T	4	1720312	1720312	G	T	TMEM129	c.247C>A	NM_001127266.2	NP_001120738.1:p.(Leu83Ile)	NC_000004.11:g.1720312G>T	(Likely) benign	1 lab	a4a118ee16
12:7173921 C1S G>A	12	7173921	7173921	G	A	C1S	c.971G>A	NM_001734.5	NP_001725.1:p.(Gly324Glu)	NC_000012.11:g.7173921G>A	VUS	1 lab	a4a1c90d1f
11:65638837 EFEMP2 G>A	11	65638837	65638837	G	A	EFEMP2	c.161-3C>T	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65638837G>A	(Likely) benign	1 lab	a4a30f20ff
1:38283157 MTF1 GA>G	1	38283157	38283163	GA	G	MTF1	c.1768-4del	NM_005955.3	NP_005946.2:p.?	NC_000001.10:g.38283163del	(Likely) benign	1 lab	a4a3bccec6
9:138716726 CAMSAP1 G>A	9	138716726	138716726	G	A	CAMSAP1	c.1224C>T	NM_015447.4	NP_056262.3:p.(Leu408=)	NC_000009.11:g.138716726G>A	(Likely) benign	1 lab	a4a3bceb74
22:46746188 TRMU C>T	22	46746188	46746188	C	T	TRMU	c.479C>T	NM_018006.5	NP_060476.2:p.(Ala160Val)	NC_000022.10:g.46746188C>T	(Likely) benign	1 lab	a4a4a1f4ae
11:73803613 C2CD3 C>A	11	73803613	73803613	C	A	C2CD3	c.3365G>T	NM_001286577.2	NP_001273506.1:p.(Arg1122Ile)	NC_000011.9:g.73803613C>A	VUS	1 lab	a4a5380e24
19:13338183 CACNA1A G>A	19	13338183	13338183	G	A	CACNA1A	c.5643+62C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13338183G>A	(Likely) benign	1 lab	292ec690b3
22:40066233 CACNA1I G>A	22	40066233	40066233	G	A	CACNA1I	c.4385G>A	NM_021096.4	NP_066919.2:p.(Arg1462Gln)	NC_000022.10:g.40066233G>A	(Likely) benign	1 lab	a4a5d7bdec
1:180461477 ACBD6 T>G	1	180461477	180461477	T	G	ACBD6	c.311A>C	NM_032360.4	NP_115736.1:p.(Asp104Ala)	NC_000001.10:g.180461477T>G	(Likely) benign	1 lab	a4a6cda135
5:14497073 TRIO G>A	5	14497073	14497073	G	A	TRIO	c.7966G>A	NM_007118.4	NP_009049.2:p.(Glu2656Lys)	NC_000005.9:g.14497073G>A	(Likely) benign	1 lab	a4a6f75b2c
X:23020020 DDX53 C>T	X	23020020	23020020	C	T	DDX53	c.1846C>T	NM_182699.4	NP_874358.2:p.(Arg616Ter)	NC_000023.10:g.23020020C>T	VUS	1 lab	a4a7370ca3
12:89853509 POC1B TA>T	12	89853509	89853518	TA	T	POC1B	c.1033-15del	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89853518del	(Likely) benign	1 lab	292f2b1247
X:11780246 MSL3 C>T	X	11780246	11780246	C	T	MSL3	c.466-3C>T	NM_078629.4	NP_523353.2:p.?	NC_000023.10:g.11780246C>T	(Likely) benign	1 lab	a4a7862bb4
1:201180180 IGFN1 G>T	1	201180180	201180180	G	T	IGFN1	c.6159G>T	NM_001164586.2	NP_001158058.1:p.(Arg2053Ser)	NC_000001.10:g.201180180G>T	(Likely) benign	1 lab	a4a79e9895
6:143792536 PEX3 CA>C	6	143792536	143792537	CA	C	PEX3	c.474del	NM_003630.3	NP_003621.1:p.(Asp159MetfsTer18)	NC_000006.11:g.143792537del	VUS	1 lab	a4a880f45f
17:61994712 GH1 C>A	17	61994712	61994712	C	A	GH1	c.611G>T	NM_000515.5	NP_000506.2:p.(Arg204Leu)	NC_000017.10:g.61994712C>A	VUS	1 lab	a4a9395189
8:77617798 ZFHX4 C>T	8	77617798	77617798	C	T	ZFHX4	c.1475C>T	NM_024721.5	NP_078997.4:p.(Thr492Ile)	NC_000008.10:g.77617798C>T	(Likely) benign	1 lab	a4aa25becd
1:43162329 YBX1 A>T	1	43162329	43162329	A	T	YBX1	c.371A>T	NM_004559.5	NP_004550.2:p.(Asn124Ile)	NC_000001.10:g.43162329A>T	VUS	1 lab	a4add104bb
8:90965821 NBN G>C	8	90965821	90965821	G	C	NBN	c.1496C>G	NM_002485.4	NP_002476.2:p.(Ser499Ter)	NC_000008.10:g.90965821G>C	(Likely) pathogenic	1 lab	292f710f64
7:151970877 KMT2C G>A	7	151970877	151970877	G	A	KMT2C	c.925C>T	NM_170606.3	NP_733751.2:p.(Pro309Ser)	NC_000007.13:g.151970877G>A	(Likely) benign	1 lab	a4aec0227c
5:140019139 TMCO6 C>G	5	140019139	140019139	C	G	TMCO6	c.27C>G	NM_018502.5	NP_060972.3:p.(Leu9=)	NC_000005.9:g.140019139C>G	(Likely) benign	1 lab	a4af41472e
5:147484503 SPINK5 G>T	5	147484503	147484503	G	T	SPINK5	c.1431-12G>T	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147484503G>T	(Likely) benign	1 lab	27c1429a03
9:111739265 CTNNAL1 T>C	9	111739265	111739265	T	C	CTNNAL1	c.1165A>G	NM_003798.4	NP_003789.1:p.(Ser389Gly)	NC_000009.11:g.111739265T>C	(Likely) benign	1 lab	a4b1541fd5
2:220075461 ABCB6 T>C	2	220075461	220075461	T	C	ABCB6	c.2228A>G	NM_005689.4	NP_005680.1:p.(Lys743Arg)	NC_000002.11:g.220075461T>C	VUS	1 lab	a4b29a132d
X:25033739 ARX C>G	X	25033739	25033739	C	G	ARX	c.116G>C	NM_139058.3	NP_620689.1:p.(Cys39Ser)	NC_000023.10:g.25033739C>G	VUS	1 lab	a4b2a881dd
17:48264849 COL1A1 G>A	17	48264849	48264849	G	A	COL1A1	c.3419C>T	NM_000088.4	NP_000079.2:p.(Pro1140Leu)	NC_000017.10:g.48264849G>A	VUS	1 lab	a4b33b7d84
18:19751983 GATA6 T>G	18	19751983	19751983	T	G	GATA6	c.878T>G	NM_005257.6	NP_005248.2:p.(Val293Gly)	NC_000018.9:g.19751983T>G	(Likely) benign	1 lab	a4b38dd970
6:76576793 MYO6 A>C	6	76576793	76576793	A	C	MYO6	c.1915A>C	NM_004999.4	NP_004990.3:p.(Ser639Arg)	NC_000006.11:g.76576793A>C	VUS	1 lab	a4b489bba5
12:48393853 COL2A1 C>A	12	48393853	48393853	C	A	COL2A1	c.141G>T	NM_001844.5	NP_001835.3:p.(Trp47Cys)	NC_000012.11:g.48393853C>A	VUS	1 lab	a4b93bc7de
21:39087399 KCNJ6 C>T	21	39087399	39087399	C	T	KCNJ6	c.61G>A	NM_002240.5	NP_002231.1:p.(Val21Ile)	NC_000021.8:g.39087399C>T	VUS	1 lab	a4ba3515af
2:234676944 UGT1A1 T>C	2	234676944	234676944	T	C	UGT1A1	c.1163T>C	NM_000463.3	NP_000454.1:p.(Met388Thr)	NC_000002.11:g.234676944T>C	VUS	1 lab	a4ba8bb680
11:65838115 PACS1 C>T	11	65838115	65838115	C	T	PACS1	c.158C>T	NM_018026.4	NP_060496.2:p.(Ala53Val)	NC_000011.9:g.65838115C>T	(Likely) benign	1 lab	a4bbc937a2
2:241534583 CAPN10 C>T	2	241534583	241534583	C	T	CAPN10	c.1140C>T	NM_023083.4	NP_075571.2:p.(Ala380=)	NC_000002.11:g.241534583C>T	VUS	1 lab	a4bc17eec8
10:122661764 WDR11 C>G	10	122661764	122661764	C	G	WDR11	c.2688-5C>G	NM_018117.12	NP_060587.8:p.?	NC_000010.10:g.122661764C>G	(Likely) benign	1 lab	27c61674c8
12:50498404 GPD1 C>CCT	12	50498404	50498405	C	CCT	GPD1	c.89_90insCT	NM_005276.4	NP_005267.2:p.(Gln31TyrfsTer7)	NC_000012.11:g.50498404_50498405insCT	VUS	1 lab	a4c1e9a9eb
10:18885233 NSUN6 A>C	10	18885233	18885233	A	C	NSUN6	c.681T>G	NM_182543.5	NP_872349.1:p.(Ser227Arg)	NC_000010.10:g.18885233A>C	VUS	1 lab	a4c282b668
5:59064316 PDE4D G>A	5	59064316	59064316	G	A	PDE4D	c.455+124679C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.59064316G>A	(Likely) benign	1 lab	a4c4fbe457
16:72832534 ZFHX3 AGCAGGGGAT>A	16	72832534	72832544	AGCAGGGGAT	A	ZFHX3	c.4038_4046del	NM_006885.4	NP_008816.3:p.(Ser1347_Ala1349del)	NC_000016.9:g.72832536_72832544del	VUS	1 lab	a4c541ec65
16:66948234 CDH16 C>A	16	66948234	66948234	C	A	CDH16	c.665G>T	NM_004062.4	NP_004053.1:p.(Gly222Val)	NC_000016.9:g.66948234C>A	VUS	1 lab	a4c58f2987
8:57079199 PLAG1 G>T	8	57079199	57079199	G	T	PLAG1	c.1106C>A	NM_002655.3	NP_002646.2:p.(Ser369Tyr)	NC_000008.10:g.57079199G>T	VUS	1 lab	a4c5d9af52
5:149825159 RPS14 G>C	5	149825159	149825159	G	C	RPS14	c.388+13C>G	NM_005617.4	NP_005608.1:p.?	NC_000005.9:g.149825159G>C	(Likely) benign	1 lab	a4c5de5ff1
17:40823432 PLEKHH3 G>C	17	40823432	40823432	G	C	PLEKHH3	c.1221C>G	NM_024927.5	NP_079203.4:p.(Thr407=)	NC_000017.10:g.40823432G>C	VUS	1 lab	a4c5e31542
9:133957553 LAMC3 G>A	9	133957553	133957553	G	A	LAMC3	c.4030+5G>A	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133957553G>A	VUS	1 lab	a4c6c83ad5
1:230928608 CAPN9 C>T	1	230928608	230928608	C	T	CAPN9	c.1804C>T	NM_006615.3	NP_006606.1:p.(Arg602Trp)	NC_000001.10:g.230928608C>T	VUS	1 lab	a4c7605e13
15:23891406 MAGEL2 T>C	15	23891406	23891406	T	C	MAGEL2	c.1484A>G	NM_019066.5	NP_061939.3:p.(Gln495Arg)	NC_000015.9:g.23891406T>C	VUS	1 lab	a4c788cc44
19:18170773 IL12RB1 A>G	19	18170773	18170773	A	G	IL12RB1	c.1914T>C	NM_005535.1	NP_005526.1:p.(Pro638=)	NC_000019.9:g.18170773A>G	(Likely) benign	1 lab	29364d0381
17:38242970 THRA T>C	17	38242970	38242970	T	C	THRA	c.587T>C	NM_199334.5	NP_955366.1:p.(Ile196Thr)	NC_000017.10:g.38242970T>C	(Likely) benign	1 lab	a4c8801610
21:18933142 CXADR C>T	21	18933142	18933142	C	T	CXADR	c.694C>T	NM_001338.5	NP_001329.1:p.(Pro232Ser)	NC_000021.8:g.18933142C>T	(Likely) benign	1 lab	a4c8cb05a5
19:39955696 SUPT5H G>A	19	39955696	39955696	G	A	SUPT5H	c.876+7G>A	NM_001111020.3	NP_001104490.1:p.?	NC_000019.9:g.39955696G>A	(Likely) benign	1 lab	a4c915d318
3:53853075 CHDH A>T	3	53853075	53853075	A	T	CHDH	c.1264-8T>A	NM_018397.5	NP_060867.2:p.?	NC_000003.11:g.53853075A>T	VUS	1 lab	a4ca489b40
17:73956362 ACOX1 G>A	17	73956362	73956362	G	A	ACOX1	c.364C>T	NM_004035.7	NP_004026.2:p.(Arg122Cys)	NC_000017.10:g.73956362G>A	VUS	1 lab	a4cb0a00ba
16:70557392 COG4 G>A	16	70557392	70557392	G	A	COG4	c.55C>T	NM_015386.3	NP_056201.2:p.(Gln19Ter)	NC_000016.9:g.70557392G>A	(Likely) pathogenic	1 lab	a4cbe83b90
5:176671194 NSD1 A>G	5	176671194	176671194	A	G	NSD1	c.4303-2A>G	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176671194A>G	(Likely) pathogenic	1 lab	a4cc4d29ae
X:70824467 GCNA A>G	X	70824467	70824467	A	G	GCNA	c.1340A>G	NM_052957.5	NP_443189.1:p.(Asn447Ser)	NC_000023.10:g.70824467A>G	(Likely) benign	1 lab	a4ce06d6a0
16:30740788 SRCAP G>A	16	30740788	30740788	G	A	SRCAP	c.6022G>A	NM_006662.3	NP_006653.2:p.(Glu2008Lys)	NC_000016.9:g.30740788G>A	(Likely) benign	1 lab	a4ce3b9088
21:47809107 PCNT C>T	21	47809107	47809107	C	T	PCNT	c.3608-7C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47809107C>T	(Likely) benign	1 lab	a4ce87377d
6:152265322 ESR1 C>T	6	152265322	152265322	C	T	ESR1	c.775C>T	NM_000125.4	NP_000116.2:p.(Arg259Ter)	NC_000006.11:g.152265322C>T	VUS	1 lab	a4cf654de4
17:10558361 MYH3 C>T	17	10558361	10558361	C	T	MYH3	c.21G>A	NM_002470.4	NP_002461.2:p.(Met7Ile)	NC_000017.10:g.10558361C>T	VUS	1 lab	a4d32a7e75
14:67786924 PALS1 AGCTTAACT>GGCTTAAC	14	67786924	67786932	AGCTTAACT	GGCTTAAC	PALS1	c.1370-23_1370-15delinsGGCTTAAC	NM_022474.4	NP_071919.2:p.?	NC_000014.8:g.67786924_67786932delinsGGCTTAAC	VUS	1 lab	a4d32b2251
2:74136213 ACTG2 T>C	2	74136213	74136213	T	C	ACTG2	c.398T>C	NM_001615.4	NP_001606.1:p.(Met133Thr)	NC_000002.11:g.74136213T>C	VUS	1 lab	a4d470c9ce
4:41747998 PHOX2B CGCTGCCGCT>C	4	41747998	41748009	CGCTGCCGCT	C	PHOX2B	c.762_770del	NM_003924.4	NP_003915.2:p.(Ala258_Ala260del)	NC_000004.11:g.41748001_41748009del	VUS	1 lab	a4d6765de9
17:54671892 NOG A>T	17	54671892	54671892	A	T	NOG	c.308A>T	NM_005450.6	NP_005441.1:p.(Glu103Val)	NC_000017.10:g.54671892A>T	(Likely) benign	1 lab	a4d70feb7a
X:47434535 SYN1 G>A	X	47434535	47434535	G	A	SYN1	c.1297C>T	NM_006950.3	NP_008881.2:p.(His433Tyr)	NC_000023.10:g.47434535G>A	(Likely) benign	1 lab	2939f0c849
X:69649807 GDPD2 C>T	X	69649807	69649807	C	T	GDPD2	c.1201C>T	NM_017711.4	NP_060181.2:p.(Arg401Trp)	NC_000023.10:g.69649807C>T	(Likely) benign	1 lab	a4d8a861f0
17:29685497 NF1 G>T	17	29685497	29685497	G	T	NF1	c.7971-1G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685497G>T	(Likely) benign	1 lab	a4d8f6972a
6:41129125 TREM2 C>G	6	41129125	41129125	C	G	TREM2	c.267G>C	NM_018965.4	NP_061838.1:p.(Leu89=)	NC_000006.11:g.41129125C>G	(Likely) benign	1 lab	a4d9038b9a
1:27875356 AHDC1 A>C	1	27875356	27875356	A	C	AHDC1	c.3271T>G	NM_001371928.1	NP_001358857.1:p.(Ser1091Ala)	NC_000001.10:g.27875356A>C	VUS	1 lab	a4d9da9d0e
3:123953727 KALRN A>G	3	123953727	123953727	A	G	KALRN	c.194A>G	NM_001024660.5	NP_001019831.2:p.(Asn65Ser)	NC_000003.11:g.123953727A>G	VUS	1 lab	27c90befae
X:24329779 SUPT20HL2 C>G	X	24329779	24329779	C	G	SUPT20HL2	c.1654G>C	NM_001136233.3	NP_001129705.3:p.(Gly552Arg)	NC_000023.10:g.24329779C>G	(Likely) benign	1 lab	a4dbe34f4e
3:65425559 MAGI1 G>T	3	65425559	65425559	G	T	MAGI1	c.1265C>A	NM_001033057.2	NP_001028229.1:p.(Thr422Lys)	NC_000003.11:g.65425559G>T	(Likely) benign	1 lab	a4ddbb0b8f
2:31628791 XDH C>T	2	31628791	31628791	C	T	XDH	c.82G>A	NM_000379.4	NP_000370.2:p.(Ala28Thr)	NC_000002.11:g.31628791C>T	(Likely) benign	1 lab	a4df502d68
4:6290813 WFS1 C>T	4	6290813	6290813	C	T	WFS1	c.415C>T	NM_006005.3	NP_005996.2:p.(Arg139Cys)	NC_000004.11:g.6290813C>T	VUS	1 lab	a4dfa252db
2:21228428 APOB T>A	2	21228428	21228428	T	A	APOB	c.11312A>T	NM_000384.3	NP_000375.3:p.(Tyr3771Phe)	NC_000002.11:g.21228428T>A	(Likely) benign	1 lab	a4e0db585a
6:51887603 PKHD1 CA>C	6	51887603	51887604	CA	C	PKHD1	c.5375del	NM_138694.4	NP_619639.3:p.(Leu1792ArgfsTer11)	NC_000006.11:g.51887604del	(Likely) pathogenic	1 lab	a4e192465c
5:71494392 MAP1B C>T	5	71494392	71494392	C	T	MAP1B	c.5210C>T	NM_005909.5	NP_005900.2:p.(Thr1737Ile)	NC_000005.9:g.71494392C>T	VUS	1 lab	a4e33f4863
16:1821330 NME3 C>T	16	1821330	1821330	C	T	NME3	c.128G>A	NM_002513.3	NP_002504.2:p.(Arg43Gln)	NC_000016.9:g.1821330C>T	(Likely) benign	1 lab	a4e35e9248
X:15841230 ZRSR2 CAGCCGG>C	X	15841230	15841259	CAGCCGG	C	ZRSR2	c.1338_1343del	NM_005089.4	NP_005080.1:p.(Ser447_Arg448del)	NC_000023.10:g.15841254_15841259del	VUS	1 lab	a4e631c3b1
19:18272187 PIK3R2 G>T	19	18272187	18272187	G	T	PIK3R2	c.697G>T	NM_005027.4	NP_005018.2:p.(Ala233Ser)	NC_000019.9:g.18272187G>T	(Likely) benign	1 lab	a4e69b3067
3:37055975 MLH1 GGTTA>G	3	37055975	37055979	GGTTA	G	MLH1	c.731_734del	NM_000249.4	NP_000240.1:p.(Gly244AlafsTer9)	NC_000003.11:g.37055976_37055979del	(Likely) pathogenic	1 lab	293ea005a1
19:33792371 CEBPA A>AGAC	19	33792371	33792373	A	AGAC	CEBPA	c.949_950insGTC	NM_004364.3	NP_004355.2:p.(Glu316_Leu317insArg)	NC_000019.9:g.33792372_33792373insACG	VUS	1 lab	293f94b683
21:47860020 PCNT C>T	21	47860020	47860020	C	T	PCNT	c.9298C>T	NM_006031.6	NP_006022.3:p.(Pro3100Ser)	NC_000021.8:g.47860020C>T	VUS	1 lab	a4e88e4adf
17:11845808 DNAH9 C>T	17	11845808	11845808	C	T	DNAH9	c.12843+6C>T	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11845808C>T	(Likely) benign	1 lab	a4e97154cc
X:152158930 PNMA5 C>A	X	152158930	152158930	C	A	PNMA5	c.1213G>T	NM_001184924.2	NP_001171853.1:p.(Asp405Tyr)	NC_000023.10:g.152158930C>A	VUS	1 lab	a4ea928fbb
19:50796509 MYH14 G>A	19	50796509	50796509	G	A	MYH14	c.5276G>A	NM_001145809.2	NP_001139281.1:p.(Arg1759His)	NC_000019.9:g.50796509G>A	VUS	1 lab	a4eadc3af2
6:36263210 PNPLA1 C>T	6	36263210	36263210	C	T	PNPLA1	c.775+9C>T	NM_001374623.1	NP_001361552.1:p.?	NC_000006.11:g.36263210C>T	(Likely) benign	1 lab	a4ec5a7113
21:47831928 PCNT G>A	21	47831928	47831928	G	A	PCNT	c.5941G>A	NM_006031.6	NP_006022.3:p.(Asp1981Asn)	NC_000021.8:g.47831928G>A	(Likely) benign	1 lab	a4ee15dca9
9:95480981 BICD2 G>A	9	95480981	95480981	G	A	BICD2	c.1946C>T	NM_001003800.2	NP_001003800.1:p.(Thr649Met)	NC_000009.11:g.95480981G>A	VUS	1 lab	a4ee73f83b
8:23560457 NKX2-6 A>G	8	23560457	23560457	A	G	NKX2-6	c.413T>C	NM_001136271.3	NP_001129743.2:p.(Leu138Pro)	NC_000008.10:g.23560457A>G	VUS	1 lab	a4ef060fb8
11:6662741 DCHS1 GCCC>G	11	6662741	6662746	GCCC	G	DCHS1	c.101_103del	NM_003737.4	NP_003728.1:p.(Gly34del)	NC_000011.9:g.6662744_6662746del	VUS	1 lab	a4f09f826c
17:41738538 MEOX1 C>A	17	41738538	41738538	C	A	MEOX1	c.365G>T	NM_004527.4	NP_004518.1:p.(Gly122Val)	NC_000017.10:g.41738538C>A	VUS	1 lab	a4f1859fdc
11:299471 IFITM5 C>T	11	299471	299471	C	T	IFITM5	c.20G>A	NM_001025295.3	NP_001020466.1:p.(Arg7His)	NC_000011.9:g.299471C>T	(Likely) benign	1 lab	a4f1e3dd44
6:51897882 PKHD1 A>C	6	51897882	51897882	A	C	PKHD1	c.3310T>G	NM_138694.4	NP_619639.3:p.(Ser1104Ala)	NC_000006.11:g.51897882A>C	(Likely) benign	1 lab	a4f1e8c7e6
12:124882671 NCOR2 T>G	12	124882671	124882671	T	G	NCOR2	c.1870A>C	NM_006312.6	NP_006303.4:p.(Lys624Gln)	NC_000012.11:g.124882671T>G	VUS	1 lab	a4f25032e8
7:104748322 KMT2E A>G	7	104748322	104748322	A	G	KMT2E	c.3418A>G	NM_182931.3	NP_891847.1:p.(Asn1140Asp)	NC_000007.13:g.104748322A>G	VUS	1 lab	a4f2637836
12:122248383 SETD1B G>A	12	122248383	122248383	G	A	SETD1B	c.1532G>A	NM_001353345.2	NP_001340274.1:p.(Arg511His)	NC_000012.11:g.122248383G>A	VUS	1 lab	a4f284ebf3
7:33312688 BBS9 C>G	7	33312688	33312688	C	G	BBS9	c.767C>G	NM_198428.3	NP_940820.1:p.(Ser256Trp)	NC_000007.13:g.33312688C>G	VUS	1 lab	a4f298abe7
8:11666071 FDFT1 G>C	8	11666071	11666071	G	C	FDFT1	c.100-232G>C	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666071G>C	(Likely) benign	1 lab	a4f3323f8d
17:8055683 PER1 T>A	17	8055683	8055683	T	A	PER1	c.-168A>T	NM_002616.3	NP_002607.2:p.?	NC_000017.10:g.8055683T>A	(Likely) benign	1 lab	a4f3cb1654
11:47609585 FAM180B T>C	11	47609585	47609585	T	C	FAM180B	c.157-6T>C	NM_001164379.3	NP_001157851.1:p.?	NC_000011.9:g.47609585T>C	VUS	1 lab	a4f46bf432
17:65908252 BPTF T>A	17	65908252	65908252	T	A	BPTF	c.4252T>A	NM_182641.4	NP_872579.2:p.(Leu1418Met)	NC_000017.10:g.65908252T>A	(Likely) benign	1 lab	a4f6674290
7:2565139 LFNG G>A	7	2565139	2565139	G	A	LFNG	c.673G>A	NM_001040167.2	NP_001035257.1:p.(Val225Ile)	NC_000007.13:g.2565139G>A	(Likely) benign	1 lab	a4f6bdc1e9
17:59820423 BRIP1 C>T	17	59820423	59820423	C	T	BRIP1	c.2330G>A	NM_032043.3	NP_114432.2:p.(Arg777His)	NC_000017.10:g.59820423C>T	VUS	1 lab	a4f7141331
7:91856006 KRIT1 AAAAC>A	7	91856006	91856021	AAAAC	A	KRIT1	c.990-14_990-11del	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91856018_91856021del	(Likely) benign	1 lab	a4f95b859f
X:75648347 MAGEE1 GCGC>G	X	75648347	75648365	GCGC	G	MAGEE1	c.40_42del	NM_020932.3	NP_065983.1:p.(Arg14del)	NC_000023.10:g.75648363_75648365del	VUS	1 lab	a4fffb93b2
18:45391440 SMAD2 A>T	18	45391440	45391440	A	T	SMAD2	c.720T>A	NM_005901.6	NP_005892.1:p.(Ser240Arg)	NC_000018.9:g.45391440A>T	VUS	1 lab	a500a861c7
5:178418473 GRM6 G>A	5	178418473	178418473	G	A	GRM6	c.809C>T	NM_000843.4	NP_000834.2:p.(Thr270Met)	NC_000005.9:g.178418473G>A	VUS	1 lab	27ca7f72d8
4:119736206 SEC24D C>A	4	119736206	119736206	C	A	SEC24D	c.778G>T	NM_014822.4	NP_055637.2:p.(Asp260Tyr)	NC_000004.11:g.119736206C>A	(Likely) benign	1 lab	a501e4bd55
10:76788267 KAT6B A>G	10	76788267	76788267	A	G	KAT6B	c.3685A>G	NM_012330.4	NP_036462.2:p.(Ser1229Gly)	NC_000010.10:g.76788267A>G	(Likely) benign	1 lab	a5048ec0e8
2:228176567 COL4A3 G>A	2	228176567	228176567	G	A	COL4A3	c.4994G>A	NM_000091.5	NP_000082.2:p.(Cys1665Tyr)	NC_000002.11:g.228176567G>A	VUS	1 lab	a505f384b4
17:42339952 SLC4A1 C>G	17	42339952	42339952	C	G	SLC4A1	c.106+52G>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42339952C>G	(Likely) benign	1 lab	2942553a72
X:12722002 FRMPD4 T>C	X	12722002	12722002	T	C	FRMPD4	c.1071-476T>C	NM_001368397.1	NP_001355326.1:p.?	NC_000023.10:g.12722002T>C	(Likely) benign	1 lab	a506ace432
20:62071014 KCNQ2 C>A	20	62071014	62071014	C	A	KCNQ2	c.864G>T	NM_172107.4	NP_742105.1:p.(Trp288Cys)	NC_000020.10:g.62071014C>A	(Likely) pathogenic	1 lab	294916f4db
5:36241458 NADK2 G>A	5	36241458	36241458	G	A	NADK2	c.300+143C>T	NM_001085411.3	NP_001078880.1:p.?	NC_000005.9:g.36241458G>A	(Likely) benign	1 lab	a5080ddf3c
5:132270131 AFF4 C>T	5	132270131	132270131	C	T	AFF4	c.626G>A	NM_014423.4	NP_055238.1:p.(Arg209His)	NC_000005.9:g.132270131C>T	(Likely) benign	1 lab	a50a040811
19:55087429 LILRA2 G>C	19	55087429	55087429	G	C	LILRA2	c.1108G>C	NM_001130917.3	NP_001124389.2:p.(Glu370Gln)	NC_000019.9:g.55087429G>C	(Likely) benign	1 lab	a50aa7000f
11:73809164 C2CD3 T>C	11	73809164	73809164	T	C	C2CD3	c.2869A>G	NM_001286577.2	NP_001273506.1:p.(Asn957Asp)	NC_000011.9:g.73809164T>C	(Likely) benign	1 lab	a50aeebc06
15:23892200 MAGEL2 GGCCATCGGTGTACCCGGAGGGGGAGGATGA>G	15	23892200	23892241	GGCCATCGGTGTACCCGGAGGGGGAGGATGA	G	MAGEL2	c.660_689del	NM_019066.5	NP_061939.3:p.(His221_Ala230del)	NC_000015.9:g.23892212_23892241del	VUS	1 lab	a50c8150ed
5:55243420 IL6ST TA>T	5	55243420	55243445	TA	T	IL6ST	c.1841-4del	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243445del	(Likely) benign	1 lab	a50e8fa669
2:71838678 DYSF C>T	2	71838678	71838678	C	T	DYSF	c.4143C>T	NM_001130987.2	NP_001124459.1:p.(Gly1381=)	NC_000002.11:g.71838678C>T	(Likely) benign	1 lab	a5108b541a
11:17415816 ABCC8 G>T	11	17415816	17415816	G	T	ABCC8	c.4542C>A	NM_000352.6	NP_000343.2:p.(Ala1514=)	NC_000011.9:g.17415816G>T	(Likely) benign	1 lab	a512c4dc19
15:90319806 MESP2 G>T	15	90319806	90319806	G	T	MESP2	c.218G>T	NM_001039958.2	NP_001035047.1:p.(Arg73Leu)	NC_000015.9:g.90319806G>T	(Likely) benign	1 lab	a513ce1bf4
16:30749490 SRCAP C>T	16	30749490	30749490	C	T	SRCAP	c.8129C>T	NM_006662.3	NP_006653.2:p.(Ser2710Leu)	NC_000016.9:g.30749490C>T	VUS	1 lab	a5140bb239
10:87615786 GRID1 C>A	10	87615786	87615786	C	A	GRID1	c.1113G>T	NM_017551.3	NP_060021.1:p.(Lys371Asn)	NC_000010.10:g.87615786C>A	VUS	1 lab	a514b2708d
2:86269016 POLR1A C>T	2	86269016	86269016	C	T	POLR1A	c.3568G>A	NM_015425.6	NP_056240.2:p.(Asp1190Asn)	NC_000002.11:g.86269016C>T	VUS	1 lab	a51530c503
16:88788718 PIEZO1 A>C	16	88788718	88788718	A	C	PIEZO1	c.4863T>G	NM_001142864.4	NP_001136336.2:p.(Ser1621Arg)	NC_000016.9:g.88788718A>C	(Likely) benign	1 lab	a5154e32af
5:90016762 ADGRV1 A>T	5	90016762	90016762	A	T	ADGRV1	c.9634A>T	NM_032119.4	NP_115495.3:p.(Ile3212Leu)	NC_000005.9:g.90016762A>T	(Likely) benign	1 lab	a515691f5a
15:91304156 BLM C>G	15	91304156	91304156	C	G	BLM	c.1553C>G	NM_000057.4	NP_000048.1:p.(Ser518Cys)	NC_000015.9:g.91304156C>G	VUS	1 lab	a5174c882e
8:144999613 PLEC T>A	8	144999613	144999613	T	A	PLEC	c.4484A>T	NM_201384.3	NP_958786.1:p.(Glu1495Val)	NC_000008.10:g.144999613T>A	VUS	1 lab	a517830986
2:152292071 RIF1 A>G	2	152292071	152292071	A	G	RIF1	c.1172A>G	NM_018151.5	NP_060621.3:p.(Asn391Ser)	NC_000002.11:g.152292071A>G	(Likely) benign	1 lab	a51c0631be
9:95491355 BICD2 G>A	9	95491355	95491355	G	A	BICD2	c.404C>T	NM_001003800.2	NP_001003800.1:p.(Thr135Met)	NC_000009.11:g.95491355G>A	(Likely) benign	1 lab	a51c34e803
16:28507858 APOBR G>A	16	28507858	28507858	G	A	APOBR	c.1496G>A	NM_018690.4	NP_061160.3:p.(Gly499Glu)	NC_000016.9:g.28507858G>A	(Likely) benign	1 lab	a51dfb2438
1:43892155 SZT2 G>A	1	43892155	43892155	G	A	SZT2	c.3160G>A	NM_001365999.1	NP_001352928.1:p.(Val1054Ile)	NC_000001.10:g.43892155G>A	VUS	1 lab	a51e6444ab
7:99350394 MISSING A>T	7	99350394	99350394	A	T	MISSING				NC_000007.13:g.99350394A>T	(Likely) benign	1 lab	a522d0b9e9
13:102568908 FGF14 G>A	13	102568908	102568908	G	A	FGF14	c.88C>T	NM_004115.4	NP_004106.1:p.(Arg30Trp)	NC_000013.10:g.102568908G>A	(Likely) benign	1 lab	a524b22d0c
10:89487166 PAPSS2 G>A	10	89487166	89487166	G	A	PAPSS2	c.1006G>A	NM_001015880.2	NP_001015880.1:p.(Ala336Thr)	NC_000010.10:g.89487166G>A	(Likely) benign	1 lab	a52a7f23f0
16:4390914 PAM16 C>A	16	4390914	4390914	C	A	PAM16	c.291+7G>T	NM_016069.11	NP_057153.8:p.?	NC_000016.9:g.4390914C>A	(Likely) benign	1 lab	a52aaf2b49
5:177034506 B4GALT7 T>C	5	177034506	177034506	T	C	B4GALT7	c.617T>C	NM_007255.3	NP_009186.1:p.(Leu206Pro)	NC_000005.9:g.177034506T>C	(Likely) pathogenic	1 lab	a52adbaff9
X:36368166 CFAP47 G>A	X	36368166	36368166	G	A	CFAP47	c.8617G>A	NM_001304548.2	NP_001291477.1:p.(Asp2873Asn)	NC_000023.10:g.36368166G>A	VUS	1 lab	a52d387649
11:102076717 YAP1 A>G	11	102076717	102076717	A	G	YAP1	c.896A>G	NM_001130145.3	NP_001123617.1:p.(Asn299Ser)	NC_000011.9:g.102076717A>G	(Likely) benign	1 lab	a52d70a96d
11:836406 CD151 C>T	11	836406	836406	C	T	CD151	c.240C>T	NM_004357.5	NP_004348.2:p.(Cys80=)	NC_000011.9:g.836406C>T	(Likely) benign	1 lab	32b4720d57
18:9256336 ANKRD12 T>C	18	9256336	9256336	T	C	ANKRD12	c.3071T>C	NM_015208.5	NP_056023.3:p.(Ile1024Thr)	NC_000018.9:g.9256336T>C	(Likely) benign	1 lab	a531f79b6f
8:100443771 VPS13B G>A	8	100443771	100443771	G	A	VPS13B	c.3089G>A	NM_152564.5	NP_689777.3:p.(Arg1030His)	NC_000008.10:g.100443771G>A	VUS	1 lab	a5322e46ff
16:21210213 ZP2 G>T	16	21210213	21210213	G	T	ZP2	c.1928-30C>A	NM_001376232.1	NP_001363161.1:p.?	NC_000016.9:g.21210213G>T	(Likely) benign	1 lab	a532c7cefc
2:179592998 TTN C>T	2	179592998	179592998	C	T	TTN	c.19553G>A	NM_001267550.2	NP_001254479.2:p.(Gly6518Glu)	NC_000002.11:g.179592998C>T	VUS	1 lab	a536b049c5
2:166892821 SCN1A T>C	2	166892821	166892821	T	C	SCN1A	c.3166A>G	NM_001165963.4	NP_001159435.1:p.(Asn1056Asp)	NC_000002.11:g.166892821T>C	(Likely) benign	1 lab	a5395c4d7c
3:183874597 DVL3 C>A	3	183874597	183874597	C	A	DVL3	c.161+1013C>A	NM_004423.4	NP_004414.3:p.?	NC_000003.11:g.183874597C>A	(Likely) benign	1 lab	a539da7bc0
4:9270236 USP17L22 C>A	4	9270236	9270236	C	A	USP17L22	c.892C>A	NM_001256863.1	NP_001243792.1:p.(Pro298Thr)	NC_000004.11:g.9270236C>A	(Likely) benign	1 lab	a53a224bfa
1:120529636 NOTCH2 AC>A	1	120529636	120529640	AC	A	NOTCH2	c.820del	NM_024408.4	NP_077719.2:p.(Val274PhefsTer122)	NC_000001.10:g.120529640del	VUS	1 lab	a53b31b4b3
16:72829008 ZFHX3 G>A	16	72829008	72829008	G	A	ZFHX3	c.7573C>T	NM_006885.4	NP_008816.3:p.(Pro2525Ser)	NC_000016.9:g.72829008G>A	VUS	1 lab	a53d1e7ab7
1:155207214 GBA1 G>A	1	155207214	155207214	G	A	GBA1	c.917C>T	NM_000157.4	NP_000148.2:p.(Thr306Ile)	NC_000001.10:g.155207214G>A	(Likely) benign	1 lab	a53f3bbd83
7:106509933 PIK3CG A>G	7	106509933	106509933	A	G	PIK3CG	c.1927A>G	NM_001282426.2	NP_001269355.1:p.(Ile643Val)	NC_000007.13:g.106509933A>G	(Likely) benign	1 lab	a5413a38a4
17:61909292 PSMC5 G>A	17	61909292	61909292	G	A	PSMC5	c.1184G>A	NM_002805.6	NP_002796.4:p.(Ser395Asn)	NC_000017.10:g.61909292G>A	(Likely) benign	1 lab	a541d53765
19:1430252 DAZAP1 A>AG	19	1430252	1430253	A	AG	DAZAP1	c.763dup	NM_018959.4	NP_061832.2:p.(Ala255GlyfsTer172)	NC_000019.9:g.1430253dup	(Likely) benign	1 lab	a5440932fe
7:128471035 FLNC T>G	7	128471035	128471035	T	G	FLNC	c.344T>G	NM_001458.4	NP_001449.3:p.(Val115Gly)	NC_000007.13:g.128471035T>G	VUS	1 lab	32f38212dd
5:163336 PLEKHG4B C>T	5	163336	163336	C	T	PLEKHG4B	c.3149C>T	NM_052909.5	NP_443141.4:p.(Thr1050Met)	NC_000005.9:g.163336C>T	(Likely) benign	1 lab	a54562d675
19:45868194 ERCC2 G>A	19	45868194	45868194	G	A	ERCC2	c.496C>T	NM_000400.4	NP_000391.1:p.(Arg166Cys)	NC_000019.9:g.45868194G>A	VUS	1 lab	a5458f1f4a
4:96051106 BMPR1B A>G	4	96051106	96051106	A	G	BMPR1B	c.679A>G	NM_001203.3	NP_001194.1:p.(Lys227Glu)	NC_000004.11:g.96051106A>G	(Likely) benign	1 lab	a54643246b
17:59533844 TBX4 C>T	17	59533844	59533844	C	T	TBX4	c.-3-5C>T	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59533844C>T	(Likely) benign	1 lab	a54870cfa9
1:236195940 NID1 C>T	1	236195940	236195940	C	T	NID1	c.1298G>A	NM_002508.3	NP_002499.2:p.(Arg433Gln)	NC_000001.10:g.236195940C>T	VUS	1 lab	a5487ba01b
17:62049219 SCN4A G>T	17	62049219	62049219	G	T	SCN4A	c.483-9C>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62049219G>T	VUS	1 lab	a548898d7f
5:98212213 CHD1 G>A	5	98212213	98212213	G	A	CHD1	c.3287C>T	NM_001270.4	NP_001261.2:p.(Ser1096Phe)	NC_000005.9:g.98212213G>A	VUS	1 lab	a54a14febd
11:108099886 ATM G>A	11	108099886	108099886	G	A	ATM	c.186-19G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108099886G>A	(Likely) benign	1 lab	a54a1cf109
17:33694089 SLFN11 C>CA	17	33694089	33694103	C	CA	SLFN11	c.-136-8dup	NM_001376007.1	NP_001362936.1:p.?	NC_000017.10:g.33694103dup	(Likely) benign	1 lab	a54b050d15
X:134993426 SAGE1 C>T	X	134993426	134993426	C	T	SAGE1	c.2081C>T	NM_001381902.1	NP_001368831.1:p.(Thr694Met)	NC_000023.10:g.134993426C>T	VUS	1 lab	a54c320705
6:163899809 QKI C>T	6	163899809	163899809	C	T	QKI	c.286-3C>T	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163899809C>T	(Likely) benign	1 lab	a54ec4c47f
X:134713929 INTS6L C>G	X	134713929	134713929	C	G	INTS6L	c.2336C>G	NM_001351601.3	NP_001338530.1:p.(Ala779Gly)	NC_000023.10:g.134713929C>G	(Likely) benign	1 lab	a54f83b577
13:110838746 COL4A1 G>A	13	110838746	110838746	G	A	COL4A1	c.1883C>T	NM_001845.6	NP_001836.3:p.(Ser628Phe)	NC_000013.10:g.110838746G>A	(Likely) benign	1 lab	a55058e2bb
10:73767137 CHST3 G>T	10	73767137	73767137	G	T	CHST3	c.348G>T	NM_004273.5	NP_004264.2:p.(Glu116Asp)	NC_000010.10:g.73767137G>T	(Likely) benign	1 lab	a5506b9091
X:106884191 PRPS1 T>C	X	106884191	106884191	T	C	PRPS1	c.366T>C	NM_002764.4	NP_002755.1:p.(Asp122=)	NC_000023.10:g.106884191T>C	VUS	1 lab	a55087acfd
5:135388650 TGFBI C>T	5	135388650	135388650	C	T	TGFBI	c.968C>T	NM_000358.3	NP_000349.1:p.(Ala323Val)	NC_000005.9:g.135388650C>T	(Likely) benign	1 lab	a550b86374
6:119345658 FAM184A C>G	6	119345658	119345658	C	G	FAM184A	c.480G>C	NM_024581.6	NP_078857.5:p.(Glu160Asp)	NC_000006.11:g.119345658C>G	(Likely) benign	1 lab	a553705bae
10:76789077 KAT6B G>GTACCCGAATCTGACGAGGAGCCACCCCCA	10	76789077	76789106	G	GTACCCGAATCTGACGAGGAGCCACCCCCA	KAT6B	c.4496_4524dup	NM_012330.4	NP_036462.2:p.(Gly1509TyrfsTer50)	NC_000010.10:g.76789078_76789106dup	(Likely) pathogenic	1 lab	27cb1cc0b4
4:85614139 WDFY3 T>C	4	85614139	85614139	T	C	WDFY3	c.8948A>G	NM_014991.6	NP_055806.2:p.(Asn2983Ser)	NC_000004.11:g.85614139T>C	(Likely) benign	1 lab	a55674b063
9:135942524 CEL A>G	9	135942524	135942524	A	G	CEL	c.827A>G	NM_001807.6	NP_001798.3:p.(Gln276Arg)	NC_000009.11:g.135942524A>G	(Likely) benign	1 lab	a5568257fb
X:48545185 WAS C>A	X	48545185	48545185	C	A	WAS	c.575C>A	NM_000377.3	NP_000368.1:p.(Pro192Gln)	NC_000023.10:g.48545185C>A	VUS	1 lab	a55687cec7
16:50818346 CYLD G>A	16	50818346	50818346	G	A	CYLD	c.1933G>A	NM_001378743.1	NP_001365672.1:p.(Val645Ile)	NC_000016.9:g.50818346G>A	(Likely) benign	1 lab	a556d066a5
10:123971096 TACC2 A>G	10	123971096	123971096	A	G	TACC2	c.7156A>G	NM_206862.4	NP_996744.4:p.(Lys2386Glu)	NC_000010.10:g.123971096A>G	(Likely) benign	1 lab	a5574707ee
4:69343122 TMPRSS11E G>A	4	69343122	69343122	G	A	TMPRSS11E	c.743G>A	NM_014058.4	NP_054777.2:p.(Gly248Glu)	NC_000004.11:g.69343122G>A	VUS	1 lab	a5576d3694
1:167042668 GPA33 C>T	1	167042668	167042668	C	T	GPA33	c.152G>A	NM_005814.3	NP_005805.1:p.(Ser51Asn)	NC_000001.10:g.167042668C>T	(Likely) benign	1 lab	a557aeca7f
18:24128121 KCTD1 T>C	18	24128121	24128121	T	C	KCTD1	c.380A>G	NM_001142730.3	NP_001136202.1:p.(Gln127Arg)	NC_000018.9:g.24128121T>C	(Likely) benign	1 lab	a5580a82d5
14:103474837 CDC42BPB T>C	14	103474837	103474837	T	C	CDC42BPB	c.323A>G	NM_006035.4	NP_006026.3:p.(Asn108Ser)	NC_000014.8:g.103474837T>C	VUS	1 lab	27cdecf56c
4:106164723 TET2 G>A	4	106164723	106164723	G	A	TET2	c.3595-4G>A	NM_001127208.3	NP_001120680.1:p.?	NC_000004.11:g.106164723G>A	(Likely) benign	1 lab	a5593aad98
11:108172383 ATM T>C	11	108172383	108172383	T	C	ATM	c.5186T>C	NM_000051.4	NP_000042.3:p.(Val1729Ala)	NC_000011.9:g.108172383T>C	VUS	1 lab	a55a695223
X:148584864 IDS C>T	X	148584864	148584864	C	T	IDS	c.396G>A	NM_000202.8	NP_000193.1:p.(Ser132=)	NC_000023.10:g.148584864C>T	(Likely) benign	1 lab	a55b9b3310
2:179422767 TTN TTGAGATTGA>T	2	179422767	179422778	TTGAGATTGA	T	TTN	c.87305_87313del	NM_001267550.2	NP_001254479.2:p.(Ile29102_Leu29104del)	NC_000002.11:g.179422770_179422778del	VUS	1 lab	27d750cb25
11:62380817 ROM1 T>G	11	62380817	62380817	T	G	ROM1	c.64T>G	NM_000327.4	NP_000318.2:p.(Trp22Gly)	NC_000011.9:g.62380817T>G	VUS	1 lab	a55f09a064
17:7107519 DLG4 T>A	17	7107519	7107519	T	A	DLG4	c.149A>T	NM_001321075.3	NP_001308004.1:p.(Tyr50Phe)	NC_000017.10:g.7107519T>A	(Likely) benign	1 lab	a55fdcbfe3
11:59377919 OSBP C>T	11	59377919	59377919	C	T	OSBP	c.506G>A	NM_002556.3	NP_002547.1:p.(Arg169Gln)	NC_000011.9:g.59377919C>T	VUS	1 lab	a592e517db
3:52486507 TNNC1 T>C	3	52486507	52486507	T	C	TNNC1	c.47A>G	NM_003280.3	NP_003271.1:p.(Gln16Arg)	NC_000003.11:g.52486507T>C	(Likely) pathogenic	1 lab	a560bc0018
1:145281952 NOTCH2NLA T>C	1	145281952	145281952	T	C	NOTCH2NLA	c.635-3T>C	NM_203458.6	NP_982283.2:p.?	NC_000001.10:g.145281952T>C	(Likely) benign	1 lab	a560ccea87
16:1034721 SOX8 A>C	16	1034721	1034721	A	C	SOX8	c.676A>C	NM_014587.5	NP_055402.2:p.(Thr226Pro)	NC_000016.9:g.1034721A>C	VUS	1 lab	a563c76ebd
1:160093115 ATP1A2 G>T	1	160093115	160093115	G	T	ATP1A2	c.290G>T	NM_000702.4	NP_000693.1:p.(Gly97Val)	NC_000001.10:g.160093115G>T	VUS	1 lab	a564a3af69
4:15992883 PROM1 A>G	4	15992883	15992883	A	G	PROM1	c.1945T>C	NM_006017.3	NP_006008.1:p.(Ser649Pro)	NC_000004.11:g.15992883A>G	VUS	1 lab	a5675d61d9
14:51238094 NIN G>A	14	51238094	51238094	G	A	NIN	c.1074C>T	NM_020921.4	NP_065972.4:p.(His358=)	NC_000014.8:g.51238094G>A	(Likely) benign	1 lab	a567c9d3d7
6:90042897 UBE2J1 T>C	6	90042897	90042897	T	C	UBE2J1	c.586A>G	NM_016021.3	NP_057105.2:p.(Ile196Val)	NC_000006.11:g.90042897T>C	(Likely) benign	1 lab	a5687f608b
2:73115601 SPR A>T	2	73115601	73115601	A	T	SPR	c.463A>T	NM_003124.5	NP_003115.1:p.(Ile155Phe)	NC_000002.11:g.73115601A>T	VUS	1 lab	a5689ed4b6
6:41566582 FOXP4 G>A	6	41566582	41566582	G	A	FOXP4	c.1951G>A	NM_001012426.2	NP_001012426.1:p.(Gly651Arg)	NC_000006.11:g.41566582G>A	(Likely) benign	1 lab	a569b93dc3
14:99959163 CCNK G>A	14	99959163	99959163	G	A	CCNK	c.149G>A	NM_001099402.2	NP_001092872.1:p.(Arg50His)	NC_000014.8:g.99959163G>A	VUS	1 lab	a569c9bb2a
22:36690120 MYH9 T>C	22	36690120	36690120	T	C	MYH9	c.3837+18A>G	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36690120T>C	(Likely) benign	1 lab	a56b52aa20
14:24731528 TGM1 G>A	14	24731528	24731528	G	A	TGM1	c.31C>T	NM_000359.3	NP_000350.1:p.(Arg11Cys)	NC_000014.8:g.24731528G>A	VUS	1 lab	a5a81971a3
2:96614324 ANKRD36C C>T	2	96614324	96614324	C	T	ANKRD36C	c.1316G>A	NM_001393982.1	NP_001380911.1:p.(Arg439His)	NC_000002.11:g.96614324C>T	(Likely) benign	1 lab	a5704bd75b
5:161281174 GABRA1 C>T	5	161281174	161281174	C	T	GABRA1	c.85C>T	NM_001127644.2	NP_001121116.1:p.(Pro29Ser)	NC_000005.9:g.161281174C>T	(Likely) benign	1 lab	a5711da69e
8:120844749 TAF2 C>A	8	120844749	120844749	C	A	TAF2	c.56G>T	NM_003184.4	NP_003175.2:p.(Gly19Val)	NC_000008.10:g.120844749C>A	VUS	1 lab	a572ba5283
12:121437125 HNF1A C>T	12	121437125	121437125	C	T	HNF1A	c.1556C>T	NM_000545.8	NP_000536.6:p.(Pro519Leu)	NC_000012.11:g.121437125C>T	(Likely) pathogenic	1 lab	a57378f5dc
18:163305 USP14 C>T	18	163305	163305	C	T	USP14	c.17-3C>T	NM_005151.4	NP_005142.1:p.?	NC_000018.9:g.163305C>T	(Likely) benign	1 lab	a573b76f63
10:88476175 LDB3 T>C	10	88476175	88476175	T	C	LDB3	c.1323T>C	NM_007078.3	NP_009009.1:p.(Pro441=)	NC_000010.10:g.88476175T>C	(Likely) benign	1 lab	a576b49875
6:46623767 SLC25A27 C>T	6	46623767	46623767	C	T	SLC25A27	c.294C>T	NM_004277.5	NP_004268.3:p.(His98=)	NC_000006.11:g.46623767C>T	VUS	1 lab	a576c8bca1
2:166771885 TTC21B C>T	2	166771885	166771885	C	T	TTC21B	c.1964G>A	NM_024753.5	NP_079029.3:p.(Arg655Gln)	NC_000002.11:g.166771885C>T	(Likely) benign	1 lab	a57734f606
X:153588948 FLNA G>A	X	153588948	153588948	G	A	FLNA	c.3215C>T	NM_001110556.2	NP_001104026.1:p.(Ala1072Val)	NC_000023.10:g.153588948G>A	VUS	1 lab	a5789407a7
20:34022546 GDF5 C>G	20	34022546	34022546	C	G	GDF5	c.667G>C	NM_000557.5	NP_000548.2:p.(Val223Leu)	NC_000020.10:g.34022546C>G	VUS	1 lab	a578dcf500
7:31617702 ITPRID1 A>G	7	31617702	31617702	A	G	ITPRID1	c.824A>G	NM_001257967.3	NP_001244896.2:p.(Glu275Gly)	NC_000007.13:g.31617702A>G	(Likely) benign	1 lab	a57ab24b2d
14:77965009 ISM2 G>C	14	77965009	77965009	G	C	ISM2	c.128C>G	NM_199296.3	NP_954993.1:p.(Thr43Arg)	NC_000014.8:g.77965009G>C	(Likely) benign	1 lab	a57b7e5c15
14:29237139 FOXG1 C>A	14	29237139	29237139	C	A	FOXG1	c.654C>A	NM_005249.5	NP_005240.3:p.(Tyr218Ter)	NC_000014.8:g.29237139C>A	(Likely) pathogenic	1 lab	27d9bc031b
1:162688941 DDR2 A>G	1	162688941	162688941	A	G	DDR2	c.82+6A>G	NM_006182.4	NP_006173.2:p.?	NC_000001.10:g.162688941A>G	(Likely) benign	1 lab	a57c4f23a8
22:44280184 PNPLA5 G>C	22	44280184	44280184	G	C	PNPLA5	c.991C>G	NM_138814.4	NP_620169.1:p.(Arg331Gly)	NC_000022.10:g.44280184G>C	(Likely) benign	1 lab	a57d712c87
2:73716902 ALMS1 T>C	2	73716902	73716902	T	C	ALMS1	c.7816T>C	NM_001378454.1	NP_001365383.1:p.(Ser2606Pro)	NC_000002.11:g.73716902T>C	(Likely) benign	1 lab	a57d722bae
14:68268838 ZFYVE26 C>T	14	68268838	68268838	C	T	ZFYVE26	c.1597G>A	NM_015346.4	NP_056161.2:p.(Ala533Thr)	NC_000014.8:g.68268838C>T	(Likely) benign	1 lab	a57dbb15ae
2:217280996 SMARCAL1 G>T	2	217280996	217280996	G	T	SMARCAL1	c.828G>T	NM_014140.3	NP_054859.2:p.(Thr276=)	NC_000002.11:g.217280996G>T	(Likely) benign	1 lab	294e65811c
6:157517297 ARID1B A>G	6	157517297	157517297	A	G	ARID1B	c.4112-2A>G	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157517297A>G	(Likely) pathogenic	1 lab	27db384ce7
4:119674003 SEC24D T>G	4	119674003	119674003	T	G	SEC24D	c.1462A>C	NM_014822.4	NP_055637.2:p.(Ile488Leu)	NC_000004.11:g.119674003T>G	VUS	1 lab	a580cfbb7b
6:129609093 LAMA2 A>G	6	129609093	129609093	A	G	LAMA2	c.2639A>G	NM_000426.4	NP_000417.3:p.(Asp880Gly)	NC_000006.11:g.129609093A>G	VUS	1 lab	a58285f354
7:91630435 AKAP9 G>A	7	91630435	91630435	G	A	AKAP9	c.1204G>A	NM_005751.5	NP_005742.4:p.(Glu402Lys)	NC_000007.13:g.91630435G>A	VUS	1 lab	a582b07c45
20:42143753 L3MBTL1 G>C	20	42143753	42143753	G	C	L3MBTL1	c.607G>C	NM_001377303.1	NP_001364232.1:p.(Asp203His)	NC_000020.10:g.42143753G>C	(Likely) benign	1 lab	a5831c2825
2:113147740 RGPD8 C>T	2	113147740	113147740	C	T	RGPD8	c.2782G>A	NM_001164463.1	NP_001157935.1:p.(Glu928Lys)	NC_000002.11:g.113147740C>T	(Likely) benign	1 lab	a5849256f7
13:100634512 ZIC2 G>C	13	100634512	100634512	G	C	ZIC2	c.194G>C	NM_007129.5	NP_009060.2:p.(Gly65Ala)	NC_000013.10:g.100634512G>C	(Likely) benign	1 lab	a587ff7ae5
7:111368454 DOCK4 G>A	7	111368454	111368454	G	A	DOCK4	c.5804C>T	NM_001363540.2	NP_001350469.1:p.(Ser1935Leu)	NC_000007.13:g.111368454G>A	(Likely) benign	1 lab	a5882d6744
9:135946627 CEL G>C	9	135946627	135946627	G	C	CEL	c.1738G>C	NM_001807.6	NP_001798.3:p.(Ala580Pro)	NC_000009.11:g.135946627G>C	(Likely) benign	1 lab	a58a45f74d
6:32945956 BRD2 G>A	6	32945956	32945956	G	A	BRD2	c.1632G>A	NM_001199455.1	NP_001186384.1:p.(Lys544=)	NC_000006.11:g.32945956G>A	(Likely) benign	1 lab	2950f9e053
16:89349229 ANKRD11 T>A	16	89349229	89349229	T	A	ANKRD11	c.3721A>T	NM_013275.6	NP_037407.4:p.(Lys1241Ter)	NC_000016.9:g.89349229T>A	(Likely) pathogenic	1 lab	a58afb7202
12:100691835 SCYL2 C>A	12	100691835	100691835	C	A	SCYL2	c.362C>A	NM_017988.6	NP_060458.3:p.(Pro121Gln)	NC_000012.11:g.100691835C>A	(Likely) benign	1 lab	a58b3f8724
1:227171527 COQ8A C>T	1	227171527	227171527	C	T	COQ8A	c.1228C>T	NM_020247.5	NP_064632.2:p.(Arg410Ter)	NC_000001.10:g.227171527C>T	VUS	1 lab	a58bb16a69
12:65563629 LEMD3 G>C	12	65563629	65563629	G	C	LEMD3	c.253G>C	NM_014319.5	NP_055134.2:p.(Ala85Pro)	NC_000012.11:g.65563629G>C	(Likely) benign	1 lab	a58e720d32
17:61554686 ACE G>A	17	61554686	61554686	G	A	ACE	c.231G>A	NM_000789.4	NP_000780.1:p.(Ala77=)	NC_000017.10:g.61554686G>A	(Likely) benign	1 lab	32f4a6dd0e
18:65178238 DSEL T>G	18	65178238	65178238	T	G	DSEL	c.3608A>C	NM_032160.3	NP_115536.2:p.(Asp1203Ala)	NC_000018.9:g.65178238T>G	(Likely) benign	1 lab	a591bf9501
9:99694588 NUTM2G TG>T	9	99694588	99694589	TG	T	NUTM2G	c.602del	NM_001170741.3	NP_001164212.1:p.(Cys201LeufsTer51)	NC_000009.11:g.99694589del	VUS	1 lab	a591d6c4fc
X:21997031 SMS A>G	X	21997031	21997031	A	G	SMS	c.697A>G	NM_004595.5	NP_004586.2:p.(Met233Val)	NC_000023.10:g.21997031A>G	(Likely) pathogenic	1 lab	a5931ddd12
X:64957032 MSN C>T	X	64957032	64957032	C	T	MSN	c.1091-8C>T	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64957032C>T	(Likely) benign	1 lab	a594640b96
X:53115095 TSPYL2 CAAT>C	X	53115095	53115098	CAAT	C	TSPYL2	c.1522_1524del	NM_022117.4	NP_071400.1:p.(Asn508del)	NC_000023.10:g.53115096_53115098del	VUS	1 lab	a595255517
7:6591051 GRID2IP G>A	7	6591051	6591051	G	A	GRID2IP	c.17C>T	NM_001145118.2	NP_001138590.1:p.(Thr6Met)	NC_000007.13:g.6591051G>A	(Likely) benign	1 lab	a5972215f5
20:36647548 TTI1 TAA>T	20	36647548	36647563	TAA	T	TTI1	c.-41-5291_-41-5290del	NM_001303457.2	NP_001290386.1:p.?	NC_000020.10:g.36647562_36647563del	(Likely) benign	1 lab	a59896e1b0
19:15271975 NOTCH3 C>T	19	15271975	15271975	C	T	NOTCH3	c.6464G>A	NM_000435.3	NP_000426.2:p.(Gly2155Glu)	NC_000019.9:g.15271975C>T	(Likely) benign	1 lab	a59908948f
7:128488961 FLNC G>A	7	128488961	128488961	G	A	FLNC	c.4852G>A	NM_001458.4	NP_001449.3:p.(Gly1618Ser)	NC_000007.13:g.128488961G>A	VUS	1 lab	29538c2740
7:87104791 ABCB4 A>G	7	87104791	87104791	A	G	ABCB4	c.-6-4T>C	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87104791A>G	(Likely) benign	1 lab	a59bbf2c98
11:118461060 ARCN1 C>T	11	118461060	118461060	C	T	ARCN1	c.823C>T	NM_001655.5	NP_001646.2:p.(His275Tyr)	NC_000011.9:g.118461060C>T	(Likely) benign	1 lab	a59bebc11d
20:60639818 TAF4 A>T	20	60639818	60639818	A	T	TAF4	c.1049T>A	NM_003185.4	NP_003176.2:p.(Val350Glu)	NC_000020.10:g.60639818A>T	(Likely) benign	1 lab	a59c998249
12:111729274 CUX2 C>T	12	111729274	111729274	C	T	CUX2	c.354C>T	NM_015267.4	NP_056082.2:p.(Pro118=)	NC_000012.11:g.111729274C>T	(Likely) benign	1 lab	295454ec1a
1:24122723 GALE A>C	1	24122723	24122723	A	C	GALE	c.906T>G	NM_000403.4	NP_000394.2:p.(Gly302=)	NC_000001.10:g.24122723A>C	(Likely) benign	1 lab	27ded57eb4
16:1270227 CACNA1H G>A	16	1270227	1270227	G	A	CACNA1H	c.6295G>A	NM_021098.3	NP_066921.2:p.(Glu2099Lys)	NC_000016.9:g.1270227G>A	VUS	1 lab	a59e99c8ab
16:55862682 CES1 G>A	16	55862682	55862682	G	A	CES1	c.257C>T	NM_001025195.2	NP_001020366.1:p.(Pro86Leu)	NC_000016.9:g.55862682G>A	VUS	1 lab	a59faf2955
4:103806522 CISD2 G>A	4	103806522	103806522	G	A	CISD2	c.253G>A	NM_001008388.5	NP_001008389.1:p.(Glu85Lys)	NC_000004.11:g.103806522G>A	VUS	1 lab	a5a23717b5
9:136380648 MYMK C>T	9	136380648	136380648	C	T	MYMK	c.481G>A	NM_001080483.3	NP_001073952.1:p.(Gly161Arg)	NC_000009.11:g.136380648C>T	VUS	1 lab	a5a30eec22
3:49454810 AMT C>G	3	49454810	49454810	C	G	AMT	c.*163G>C	NM_000481.4	NP_000472.2:p.?	NC_000003.11:g.49454810C>G	(Likely) benign	1 lab	a5a3535217
8:12879276 TRMT9B G>T	8	12879276	12879276	G	T	TRMT9B	c.1088G>T	NM_020844.3	NP_065895.2:p.(Gly363Val)	NC_000008.10:g.12879276G>T	(Likely) benign	1 lab	a5a3912fbb
7:44185204 GCK C>T	7	44185204	44185204	C	T	GCK	c.1145G>A	NM_000162.5	NP_000153.1:p.(Cys382Tyr)	NC_000007.13:g.44185204C>T	(Likely) pathogenic	1 lab	a5a53326b6
9:98678619 ERCC6L2 G>A	9	98678619	98678619	G	A	ERCC6L2	c.1061G>A	NM_020207.7	NP_064592.3:p.(Arg354Gln)	NC_000009.11:g.98678619G>A	VUS	1 lab	a5a683b565
9:140637820 EHMT1 TAGC>T	9	140637820	140637823	TAGC	T	EHMT1	c.824-2_824del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140637821_140637823del	VUS	1 lab	a5a6beecfa
10:61829100 ANK3 G>A	10	61829100	61829100	G	A	ANK3	c.11539C>T	NM_020987.5	NP_066267.2:p.(Leu3847Phe)	NC_000010.10:g.61829100G>A	(Likely) benign	1 lab	a5a725ba13
16:1842354 IGFALS G>A	16	1842354	1842354	G	A	IGFALS	c.65C>T	NM_004970.3	NP_004961.1:p.(Pro22Leu)	NC_000016.9:g.1842354G>A	(Likely) benign	1 lab	a5a94c66dc
16:2220641 TRAF7 C>T	16	2220641	2220641	C	T	TRAF7	c.258C>T	NM_032271.3	NP_115647.2:p.(Ser86=)	NC_000016.9:g.2220641C>T	(Likely) benign	1 lab	a5aabaf74a
19:15376268 BRD4 G>A	19	15376268	15376268	G	A	BRD4	c.746C>T	NM_001379291.1	NP_001366220.1:p.(Thr249Met)	NC_000019.9:g.15376268G>A	(Likely) benign	1 lab	a5ac261efe
16:4382375 GLIS2 C>T	16	4382375	4382375	C	T	GLIS2	c.94C>T	NM_032575.3	NP_115964.2:p.(Arg32Trp)	NC_000016.9:g.4382375C>T	(Likely) benign	1 lab	a5ac2e064c
16:88788797 PIEZO1 C>G	16	88788797	88788797	C	G	PIEZO1	c.4784G>C	NM_001142864.4	NP_001136336.2:p.(Gly1595Ala)	NC_000016.9:g.88788797C>G	(Likely) benign	1 lab	a5acddd7b9
8:99139814 POP1 A>G	8	99139814	99139814	A	G	POP1	c.143-9A>G	NM_001145860.2	NP_001139332.1:p.?	NC_000008.10:g.99139814A>G	VUS	1 lab	a5ace631d7
17:7980434 ALOX12B C>G	17	7980434	7980434	C	G	ALOX12B	c.1149G>C	NM_001139.3	NP_001130.1:p.(Thr383=)	NC_000017.10:g.7980434C>G	(Likely) benign	1 lab	27e4fc77cb
1:160099922 ATP1A2 C>G	1	160099922	160099922	C	G	ATP1A2	c.1492C>G	NM_000702.4	NP_000693.1:p.(Gln498Glu)	NC_000001.10:g.160099922C>G	(Likely) benign	1 lab	a5b25f8b3f
1:152284963 FLG T>A	1	152284963	152284963	T	A	FLG	c.2399A>T	NM_002016.2	NP_002007.1:p.(His800Leu)	NC_000001.10:g.152284963T>A	(Likely) benign	1 lab	a5b51b101f
14:105405244 AHNAK2 G>A	14	105405244	105405244	G	A	AHNAK2	c.16544C>T	NM_138420.4	NP_612429.2:p.(Ser5515Leu)	NC_000014.8:g.105405244G>A	VUS	1 lab	a5b8637dcc
17:78064032 CCDC40 AGGCACGTGCACGAACAACACGGGACGCGCGCG>A	17	78064032	78064095	AGGCACGTGCACGAACAACACGGGACGCGCGCG	A	CCDC40	c.2832+381_2832+412del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064064_78064095del	VUS	1 lab	a5b87759aa
16:396382 AXIN1 G>A	16	396382	396382	G	A	AXIN1	c.644C>T	NM_003502.4	NP_003493.1:p.(Ser215Leu)	NC_000016.9:g.396382G>A	(Likely) benign	1 lab	a5b8d9aa05
5:68667275 RAD17 C>A	5	68667275	68667275	C	A	RAD17	c.-279-6C>A	NM_133338.3	NP_579916.1:p.?	NC_000005.9:g.68667275C>A	(Likely) benign	1 lab	a5b952383f
15:89876827 POLG TTGCTGCTGCTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGCTGCTGCTGC	T	POLG	c.138_158del	NM_002693.3	NP_002684.1:p.(Gln49_Gln55del)	NC_000015.9:g.89876840_89876860del	VUS	1 lab	27e841188e
2:99722087 TSGA10 T>C	2	99722087	99722087	T	C	TSGA10	c.284A>G	NM_025244.4	NP_079520.1:p.(His95Arg)	NC_000002.11:g.99722087T>C	VUS	1 lab	a5ba2c5828
17:76115441 TMC6 C>T	17	76115441	76115441	C	T	TMC6	c.1748G>A	NM_007267.6	NP_009198.4:p.(Arg583Gln)	NC_000017.10:g.76115441C>T	(Likely) benign	1 lab	2955aaf5f2
2:173356247 ITGA6 C>A	2	173356247	173356247	C	A	ITGA6	c.2984C>A	NM_000210.4	NP_000201.2:p.(Thr995Asn)	NC_000002.11:g.173356247C>A	(Likely) benign	1 lab	a5bd93eebf
2:239165697 PER2 C>T	2	239165697	239165697	C	T	PER2	c.1931G>A	NM_022817.3	NP_073728.1:p.(Arg644His)	NC_000002.11:g.239165697C>T	(Likely) benign	1 lab	a5be266ae9
17:61994847 GH1 G>T	17	61994847	61994847	G	T	GH1	c.476C>A	NM_000515.5	NP_000506.2:p.(Pro159His)	NC_000017.10:g.61994847G>T	VUS	1 lab	a5be67ab44
16:30750497 SRCAP G>A	16	30750497	30750497	G	A	SRCAP	c.9136G>A	NM_006662.3	NP_006653.2:p.(Gly3046Ser)	NC_000016.9:g.30750497G>A	(Likely) benign	1 lab	a5c0ae462b
15:90191749 KIF7 G>C	15	90191749	90191749	G	C	KIF7	c.1180C>G	NM_198525.3	NP_940927.2:p.(Pro394Ala)	NC_000015.9:g.90191749G>C	(Likely) benign	1 lab	a5c1946c0d
15:33916136 RYR3 G>A	15	33916136	33916136	G	A	RYR3	c.2486G>A	NM_001036.6	NP_001027.3:p.(Arg829His)	NC_000015.9:g.33916136G>A	(Likely) benign	1 lab	a5c2157201
20:44054453 PIGT TC>T	20	44054453	44054459	TC	T	PIGT	c.1730del	NM_015937.6	NP_057021.2:p.(Pro577HisfsTer67)	NC_000020.10:g.44054459del	(Likely) pathogenic	1 lab	a5c286f785
11:66455055 SPTBN2 G>C	11	66455055	66455055	G	C	SPTBN2	c.6565C>G	NM_006946.4	NP_008877.2:p.(Pro2189Ala)	NC_000011.9:g.66455055G>C	(Likely) benign	1 lab	a5c52513c9
15:45408041 DUOXA2 C>T	15	45408041	45408041	C	T	DUOXA2	c.192C>T	NM_207581.4	NP_997464.2:p.(Gly64=)	NC_000015.9:g.45408041C>T	VUS	1 lab	a5c5541944
15:100230502 MEF2A A>G	15	100230502	100230502	A	G	MEF2A	c.727A>G	NM_001319206.4	NP_001306135.1:p.(Asn243Asp)	NC_000015.9:g.100230502A>G	(Likely) benign	1 lab	a5c676b6d0
5:228293 SDHA C>T	5	228293	228293	C	T	SDHA	c.622-7C>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228293C>T	(Likely) benign	1 lab	a5ca15200c
7:94230020 SGCE C>T	7	94230020	94230020	C	T	SGCE	c.888G>A	NM_001346719.2	NP_001333648.1:p.(Ser296=)	NC_000007.13:g.94230020C>T	(Likely) benign	1 lab	27e8a294c6
10:17088035 CUBN G>A	10	17088035	17088035	G	A	CUBN	c.3388C>T	NM_001081.4	NP_001072.2:p.(Pro1130Ser)	NC_000010.10:g.17088035G>A	(Likely) benign	1 lab	a5cbac473b
4:119204133 PRSS12 A>G	4	119204133	119204133	A	G	PRSS12	c.2173T>C	NM_003619.4	NP_003610.2:p.(Tyr725His)	NC_000004.11:g.119204133A>G	VUS	1 lab	a5cc3872f6
3:42727244 KLHL40 C>T	3	42727244	42727244	C	T	KLHL40	c.134C>T	NM_152393.4	NP_689606.2:p.(Pro45Leu)	NC_000003.11:g.42727244C>T	VUS	1 lab	a5ccb1dce9
15:89401133 ACAN C>A	15	89401133	89401133	C	A	ACAN	c.5317C>A	NM_001369268.1	NP_001356197.1:p.(Leu1773Ile)	NC_000015.9:g.89401133C>A	(Likely) benign	1 lab	a5ceb20f91
17:11502068 DNAH9 C>T	17	11502068	11502068	C	T	DNAH9	c.253C>T	NM_001372.4	NP_001363.2:p.(Pro85Ser)	NC_000017.10:g.11502068C>T	VUS	1 lab	a5cfc3092b
6:33152794 COL11A2 G>A	6	33152794	33152794	G	A	COL11A2	c.914C>T	NM_080680.3	NP_542411.2:p.(Ser305Leu)	NC_000006.11:g.33152794G>A	(Likely) benign	1 lab	a5d13b087c
19:42857927 MEGF8 G>C	19	42857927	42857927	G	C	MEGF8	c.3762G>C	NM_001271938.2	NP_001258867.1:p.(Arg1254=)	NC_000019.9:g.42857927G>C	(Likely) benign	1 lab	a5d17e258c
X:125299390 DCAF12L2 C>T	X	125299390	125299390	C	T	DCAF12L2	c.518G>A	NM_001013628.3	NP_001013650.1:p.(Ser173Asn)	NC_000023.10:g.125299390C>T	VUS	1 lab	a5d715d893
19:50411742 IL4I1 A>G	19	50411742	50411742	A	G	IL4I1	c.-285-4164T>C	NM_001258018.2	NP_001244947.1:p.?	NC_000019.9:g.50411742A>G	(Likely) benign	1 lab	27e9ee3e6e
6:147022183 ADGB C>A	6	147022183	147022183	C	A	ADGB	c.1684C>A	NM_024694.4	NP_078970.3:p.(Gln562Lys)	NC_000006.11:g.147022183C>A	VUS	1 lab	a5dc9c3199
8:133909942 TG G>A	8	133909942	133909942	G	A	TG	c.3050G>A	NM_003235.5	NP_003226.4:p.(Gly1017Glu)	NC_000008.10:g.133909942G>A	VUS	1 lab	a5dd4fb317
14:73706541 PAPLN G>A	14	73706541	73706541	G	A	PAPLN	c.54+1G>A	NM_001365906.3	NP_001352835.1:p.?	NC_000014.8:g.73706541G>A	(Likely) benign	1 lab	a5dd61de80
11:66278482 BBS1 A>C	11	66278482	66278482	A	C	BBS1	c.48-2A>C	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66278482A>C	(Likely) pathogenic	1 lab	a5dd8c1aac
3:160073923 IFT80 C>T	3	160073923	160073923	C	T	IFT80	c.655G>A	NM_020800.3	NP_065851.1:p.(Gly219Ser)	NC_000003.11:g.160073923C>T	VUS	1 lab	a5de809adf
12:121434525 HNF1A G>T	12	121434525	121434525	G	T	HNF1A	c.1289G>T	NM_000545.8	NP_000536.6:p.(Gly430Val)	NC_000012.11:g.121434525G>T	VUS	1 lab	a5df071961
X:32466740 DMD C>T	X	32466740	32466740	C	T	DMD	c.3619G>A	NM_004006.3	NP_003997.2:p.(Ala1207Thr)	NC_000023.10:g.32466740C>T	(Likely) benign	1 lab	a5df1120ac
15:43237572 UBR1 T>C	15	43237572	43237572	T	C	UBR1	c.5205A>G	NM_174916.3	NP_777576.1:p.(Gln1735=)	NC_000015.9:g.43237572T>C	(Likely) benign	1 lab	a5e1853de2
17:36894682 PCGF2 C>T	17	36894682	36894682	C	T	PCGF2	c.500G>A	NM_007144.3	NP_009075.1:p.(Arg167Gln)	NC_000017.10:g.36894682C>T	(Likely) benign	1 lab	a5e19cc675
2:179592485 TTN C>T	2	179592485	179592485	C	T	TTN	c.19820G>A	NM_001267550.2	NP_001254479.2:p.(Trp6607Ter)	NC_000002.11:g.179592485C>T	VUS	1 lab	a5e1c37807
2:97909676 ANKRD36 T>G	2	97909676	97909676	T	G	ANKRD36	c.4401T>G	NM_001354587.1	NP_001341516.1:p.(Tyr1467Ter)	NC_000002.11:g.97909676T>G	(Likely) benign	1 lab	a5e7db359e
17:41258473 BRCA1 C>CT	17	41258473	41258477	C	CT	BRCA1	c.211dup	NM_007294.4	NP_009225.1:p.(Arg71LysfsTer10)	NC_000017.10:g.41258477dup	(Likely) pathogenic	1 lab	a5e9484905
9:135946828 CEL C>T	9	135946828	135946828	C	T	CEL	c.1939C>T	NM_001807.6	NP_001798.3:p.(Pro647Ser)	NC_000009.11:g.135946828C>T	(Likely) benign	1 lab	a5ea044156
6:21596147 SOX4 A>C	6	21596147	21596147	A	C	SOX4	c.1382A>C	NM_003107.3	NP_003098.1:p.(Asp461Ala)	NC_000006.11:g.21596147A>C	VUS	1 lab	a5ea3f1834
6:119288010 FAM184A T>G	6	119288010	119288010	T	G	FAM184A	c.3023A>C	NM_024581.6	NP_078857.5:p.(Lys1008Thr)	NC_000006.11:g.119288010T>G	VUS	1 lab	a5ea9228ea
14:99976587 CCNK C>T	14	99976587	99976587	C	T	CCNK	c.1211C>T	NM_001099402.2	NP_001092872.1:p.(Pro404Leu)	NC_000014.8:g.99976587C>T	(Likely) benign	1 lab	a5edbbead8
3:129290608 PLXND1 G>A	3	129290608	129290608	G	A	PLXND1	c.3157C>T	NM_015103.3	NP_055918.3:p.(Arg1053Cys)	NC_000003.11:g.129290608G>A	(Likely) benign	1 lab	a5ee3ce56c
5:35047981 AGXT2 C>T	5	35047981	35047981	C	T	AGXT2	c.17G>A	NM_031900.4	NP_114106.1:p.(Arg6Lys)	NC_000005.9:g.35047981C>T	VUS	1 lab	a60b42d5bd
17:11523106 DNAH9 C>G	17	11523106	11523106	C	G	DNAH9	c.1350+8C>G	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11523106C>G	VUS	1 lab	a5f026268a
2:200298212 SATB2 G>A	2	200298212	200298212	G	A	SATB2	c.195C>T	NM_001172509.2	NP_001165980.1:p.(Val65=)	NC_000002.11:g.200298212G>A	(Likely) benign	1 lab	a5f06666d0
3:49095178 QRICH1 T>G	3	49095178	49095178	T	G	QRICH1	c.455A>C	NM_198880.3	NP_942581.1:p.(Gln152Pro)	NC_000003.11:g.49095178T>G	(Likely) benign	1 lab	a5f0e6de07
X:114141468 HTR2C AAAG>A	X	114141468	114141477	AAAG	A	HTR2C	c.874_876del	NM_000868.4	NP_000859.2:p.(Lys292del)	NC_000023.10:g.114141475_114141477del	(Likely) benign	1 lab	a5f13b6076
5:31317853 CDH6 G>A	5	31317853	31317853	G	A	CDH6	c.1704G>A	NM_004932.4	NP_004923.1:p.(Val568=)	NC_000005.9:g.31317853G>A	VUS	1 lab	a5f1be23ee
4:81952727 BMP3 G>T	4	81952727	81952727	G	T	BMP3	c.289G>T	NM_001201.5	NP_001192.4:p.(Val97Phe)	NC_000004.11:g.81952727G>T	VUS	1 lab	a5f2557cdb
13:111287117 NAXD C>G	13	111287117	111287117	C	G	NAXD	c.591C>G	NM_001242882.2	NP_001229811.1:p.(Asp197Glu)	NC_000013.10:g.111287117C>G	VUS	1 lab	a5f31b729a
7:1512732 INTS1 G>A	7	1512732	1512732	G	A	INTS1	c.6046C>T	NM_001080453.3	NP_001073922.2:p.(Arg2016Ter)	NC_000007.13:g.1512732G>A	VUS	1 lab	a5f46296bd
12:110221445 TRPV4 G>A	12	110221445	110221445	G	A	TRPV4	c.2597C>T	NM_021625.5	NP_067638.3:p.(Thr866Ile)	NC_000012.11:g.110221445G>A	VUS	1 lab	a5f4fa6c5c
17:78261854 RNF213 G>A	17	78261854	78261854	G	A	RNF213	c.502G>A	NM_001256071.3	NP_001243000.2:p.(Glu168Lys)	NC_000017.10:g.78261854G>A	(Likely) benign	1 lab	a5f6841bf7
22:50962462 SCO2 A>G	22	50962462	50962462	A	G	SCO2	c.379T>C	NM_005138.3	NP_005129.2:p.(Tyr127His)	NC_000022.10:g.50962462A>G	VUS	1 lab	27ecd3a293
1:155874206 RIT1 G>A	1	155874206	155874206	G	A	RIT1	c.325C>T	NM_006912.6	NP_008843.1:p.(His109Tyr)	NC_000001.10:g.155874206G>A	VUS	1 lab	a5f8df0762
15:74473222 STRA6 T>C	15	74473222	74473222	T	C	STRA6	c.1741A>G	NM_022369.4	NP_071764.3:p.(Met581Val)	NC_000015.9:g.74473222T>C	VUS	1 lab	a5f9f47dfc
13:103515037 ERCC5 C>G	13	103515037	103515037	C	G	ERCC5	c.1538C>G	NM_000123.4	NP_000114.3:p.(Ala513Gly)	NC_000013.10:g.103515037C>G	(Likely) benign	1 lab	a5fa1b9b90
19:11353954 DOCK6 CAGTT>C	19	11353954	11353960	CAGTT	C	DOCK6	c.1362_1365del	NM_020812.4	NP_065863.2:p.(Thr455SerfsTer24)	NC_000019.9:g.11353957_11353960del	(Likely) pathogenic	1 lab	a5fa9b2ee5
16:87365025 FBXO31 C>T	16	87365025	87365025	C	T	FBXO31	c.1489G>A	NM_024735.5	NP_079011.3:p.(Gly497Arg)	NC_000016.9:g.87365025C>T	VUS	1 lab	a5fb12c6e1
8:145656453 TONSL G>A	8	145656453	145656453	G	A	TONSL	c.3809+8C>T	NM_013432.5	NP_038460.4:p.?	NC_000008.10:g.145656453G>A	(Likely) benign	1 lab	a5fcdfa4f9
17:7951762 ALOX15B T>C	17	7951762	7951762	T	C	ALOX15B	c.1910T>C	NM_001141.3	NP_001132.2:p.(Ile637Thr)	NC_000017.10:g.7951762T>C	VUS	1 lab	a5fd669404
7:100410478 EPHB4 T>G	7	100410478	100410478	T	G	EPHB4	c.2009A>C	NM_004444.5	NP_004435.3:p.(Gln670Pro)	NC_000007.13:g.100410478T>G	VUS	1 lab	a5fe48bcdb
11:640061 DRD4 G>A	11	640061	640061	G	A	DRD4	c.812G>A	NM_000797.4	NP_000788.2:p.(Arg271Gln)	NC_000011.9:g.640061G>A	(Likely) benign	1 lab	a62f6b6036
16:2144182 PKD1 GTC>G	16	2144182	2144187	GTC	G	PKD1	c.10527_10528del	NM_001009944.3	NP_001009944.3:p.(Glu3509AspfsTer117)	NC_000016.9:g.2144186_2144187del	(Likely) pathogenic	1 lab	a6015db84f
X:103495090 ESX1 GGCGCCATGGGCGGCCCGGGTGGCACAC>G	X	103495090	103495170	GGCGCCATGGGCGGCCCGGGTGGCACAC	G	ESX1	c.1013_1039del	NM_153448.4	NP_703149.1:p.(Arg338_Ala346del)	NC_000023.10:g.103495144_103495170del	VUS	1 lab	a601796e53
1:40775617 COL9A2 C>T	1	40775617	40775617	C	T	COL9A2	c.839G>A	NM_001852.4	NP_001843.1:p.(Gly280Asp)	NC_000001.10:g.40775617C>T	VUS	1 lab	a6019c1d25
6:56473526 DST A>T	6	56473526	56473526	A	T	DST	c.5900T>A	NM_001374736.1	NP_001361665.1:p.(Ile1967Lys)	NC_000006.11:g.56473526A>T	VUS	1 lab	a6037d5ecf
X:117043848 KLHL13 G>C	X	117043848	117043848	G	C	KLHL13	c.734C>G	NM_001168302.2	NP_001161774.1:p.(Thr245Ser)	NC_000023.10:g.117043848G>C	(Likely) benign	1 lab	a604703787
19:1466099 APC2 C>T	19	1466099	1466099	C	T	APC2	c.2799C>T	NM_005883.3	NP_005874.1:p.(Ser933=)	NC_000019.9:g.1466099C>T	(Likely) benign	1 lab	a606bd2263
8:3009016 CSMD1 C>A	8	3009016	3009016	C	A	CSMD1	c.5934G>T	NM_033225.6	NP_150094.5:p.(Leu1978=)	NC_000008.10:g.3009016C>A	VUS	1 lab	a606be7dc8
11:17436145 ABCC8 G>A	11	17436145	17436145	G	A	ABCC8	c.2304C>T	NM_000352.6	NP_000343.2:p.(Pro768=)	NC_000011.9:g.17436145G>A	(Likely) benign	1 lab	a608ee89ec
12:122281629 HPD A>G	12	122281629	122281629	A	G	HPD	c.941T>C	NM_002150.3	NP_002141.2:p.(Ile314Thr)	NC_000012.11:g.122281629A>G	VUS	1 lab	a60b51d5dc
8:107531376 OXR1 C>T	8	107531376	107531376	C	T	OXR1	c.220+9C>T	NM_001198533.2	NP_001185462.1:p.?	NC_000008.10:g.107531376C>T	(Likely) benign	1 lab	a60bfa3080
5:44305171 FGF10 C>T	5	44305171	44305171	C	T	FGF10	c.553G>A	NM_004465.2	NP_004456.1:p.(Ala185Thr)	NC_000005.9:g.44305171C>T	(Likely) benign	1 lab	a60c56cd4b
2:166872165 SCN1A C>T	2	166872165	166872165	C	T	SCN1A	c.3502G>A	NM_001165963.4	NP_001159435.1:p.(Val1168Ile)	NC_000002.11:g.166872165C>T	(Likely) benign	1 lab	a60d3de844
X:120182733 GLUD2 A>C	X	120182733	120182733	A	C	GLUD2	c.1195A>C	NM_012084.4	NP_036216.2:p.(Lys399Gln)	NC_000023.10:g.120182733A>C	VUS	1 lab	a60f376a7f
18:42532409 SETBP1 T>A	18	42532409	42532409	T	A	SETBP1	c.3104T>A	NM_015559.3	NP_056374.2:p.(Leu1035Ter)	NC_000018.9:g.42532409T>A	(Likely) pathogenic	1 lab	a611593721
17:78353464 RNF213 G>A	17	78353464	78353464	G	A	RNF213	c.13590G>A	NM_001256071.3	NP_001243000.2:p.(Ala4530=)	NC_000017.10:g.78353464G>A	(Likely) benign	1 lab	a61528b4d6
2:33484666 LTBP1 C>G	2	33484666	33484666	C	G	LTBP1	c.2407C>G	NM_206943.4	NP_996826.3:p.(Pro803Ala)	NC_000002.11:g.33484666C>G	(Likely) benign	1 lab	a615f0a577
1:52849092 ORC1 C>G	1	52849092	52849092	C	G	ORC1	c.2013G>C	NM_004153.4	NP_004144.2:p.(Leu671=)	NC_000001.10:g.52849092C>G	VUS	1 lab	a69eb5a8a0
14:51372187 PYGL G>A	14	51372187	51372187	G	A	PYGL	c.2467C>T	NM_002863.5	NP_002854.3:p.(Gln823Ter)	NC_000014.8:g.51372187G>A	(Likely) pathogenic	1 lab	a6166e677a
12:120597730 GCN1 G>C	12	120597730	120597730	G	C	GCN1	c.2648C>G	NM_006836.2	NP_006827.1:p.(Ser883Cys)	NC_000012.11:g.120597730G>C	(Likely) benign	1 lab	a61991362c
16:89351224 ANKRD11 C>T	16	89351224	89351224	C	T	ANKRD11	c.1726G>A	NM_013275.6	NP_037407.4:p.(Glu576Lys)	NC_000016.9:g.89351224C>T	(Likely) benign	1 lab	a61a7eb992
15:60720819 ICE2 A>C	15	60720819	60720819	A	C	ICE2	c.2629T>G	NM_024611.6	NP_078887.2:p.(Ser877Ala)	NC_000015.9:g.60720819A>C	(Likely) benign	1 lab	a61a8ac17b
13:103511301 ERCC5 T>C	13	103511301	103511301	T	C	ERCC5	c.672+533T>C	NM_000123.4	NP_000114.3:p.?	NC_000013.10:g.103511301T>C	(Likely) benign	1 lab	27ee098eb4
6:7555988 DSP A>G	6	7555988	7555988	A	G	DSP	c.208A>G	NM_004415.4	NP_004406.2:p.(Thr70Ala)	NC_000006.11:g.7555988A>G	VUS	1 lab	a61e26233f
2:219679269 CYP27A1 C>T	2	219679269	219679269	C	T	CYP27A1	c.1265C>T	NM_000784.4	NP_000775.1:p.(Thr422Ile)	NC_000002.11:g.219679269C>T	VUS	1 lab	a61e679681
17:40696008 NAGLU C>G	17	40696008	40696008	C	G	NAGLU	c.1984C>G	NM_000263.4	NP_000254.2:p.(Gln662Glu)	NC_000017.10:g.40696008C>G	VUS	1 lab	a61fc99ccb
20:746357 SLC52A3 T>C	20	746357	746357	T	C	SLC52A3	c.62A>G	NM_033409.4	NP_212134.3:p.(Asn21Ser)	NC_000020.10:g.746357T>C	VUS	1 lab	a62003e1a0
X:24859909 POLA1 G>A	X	24859909	24859909	G	A	POLA1	c.3877G>A	NM_001330360.2	NP_001317289.1:p.(Gly1293Arg)	NC_000023.10:g.24859909G>A	VUS	1 lab	a62054bb2d
5:35727857 SPEF2 G>A	5	35727857	35727857	G	A	SPEF2	c.2995G>A	NM_024867.4	NP_079143.3:p.(Ala999Thr)	NC_000005.9:g.35727857G>A	(Likely) benign	1 lab	a62103ee0a
8:41790636 KAT6A G>A	8	41790636	41790636	G	A	KAT6A	c.5102C>T	NM_006766.5	NP_006757.2:p.(Pro1701Leu)	NC_000008.10:g.41790636G>A	(Likely) benign	1 lab	a621749c9e
21:44492094 CBS C>T	21	44492094	44492094	C	T	CBS	c.209+1G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44492094C>T	(Likely) pathogenic	1 lab	a621e2845a
15:89390469 ACAN C>T	15	89390469	89390469	C	T	ACAN	c.1430-5C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89390469C>T	(Likely) benign	1 lab	a62339874e
14:77492742 IRF2BPL T>A	14	77492742	77492742	T	A	IRF2BPL	c.1394A>T	NM_024496.4	NP_078772.1:p.(Lys465Met)	NC_000014.8:g.77492742T>A	VUS	1 lab	a6240e97cf
4:71265054 OPRPN G>A	4	71265054	71265054	G	A	OPRPN	c.51+1G>A	NM_021225.5	NP_067048.4:p.?	NC_000004.11:g.71265054G>A	VUS	1 lab	a6243bd6d8
12:49433114 KMT2D G>A	12	49433114	49433114	G	A	KMT2D	c.8257C>T	NM_003482.4	NP_003473.3:p.(Pro2753Ser)	NC_000012.11:g.49433114G>A	(Likely) benign	1 lab	a624bac996
19:55497681 NLRP2 C>T	19	55497681	55497681	C	T	NLRP2	c.2364C>T	NM_017852.5	NP_060322.1:p.(Leu788=)	NC_000019.9:g.55497681C>T	(Likely) benign	1 lab	a624c2ad6c
22:19344584 HIRA C>G	22	19344584	19344584	C	G	HIRA	c.2235-10G>C	NM_003325.4	NP_003316.3:p.?	NC_000022.10:g.19344584C>G	(Likely) benign	1 lab	a625705ba8
6:32630225 HLA-DQB1 A>C	6	32630225	32630225	A	C	HLA-DQB1	c.380-200T>G	NM_002123.5	NP_002114.3:p.?	NC_000006.11:g.32630225A>C	(Likely) benign	1 lab	a6271a6812
20:44523553 CTSA G>T	20	44523553	44523553	G	T	CTSA	c.948+13G>T	NM_000308.4	NP_000299.3:p.?	NC_000020.10:g.44523553G>T	(Likely) benign	1 lab	a628af78f6
2:170010962 LRP2 A>G	2	170010962	170010962	A	G	LRP2	c.12295+8T>C	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170010962A>G	(Likely) benign	1 lab	a629ce7b46
11:802210 PIDD1 C>A	11	802210	802210	C	A	PIDD1	c.1161G>T	NM_145886.4	NP_665893.2:p.(Gly387=)	NC_000011.9:g.802210C>A	VUS	1 lab	a62a200648
4:151271250 LRBA T>G	4	151271250	151271250	T	G	LRBA	c.7256A>C	NM_001364905.1	NP_001351834.1:p.(Tyr2419Ser)	NC_000004.11:g.151271250T>G	VUS	1 lab	a62c0b6ada
19:55673663 DNAAF3 G>T	19	55673663	55673663	G	T	DNAAF3	c.323-5C>A	NM_001256715.2	NP_001243644.1:p.?	NC_000019.9:g.55673663G>T	VUS	1 lab	a62c36a89c
2:179413028 TTN C>T	2	179413028	179413028	C	T	TTN	c.93325G>A	NM_001267550.2	NP_001254479.2:p.(Val31109Ile)	NC_000002.11:g.179413028C>T	VUS	1 lab	a62d62cdf4
3:156979024 VEPH1 C>T	3	156979024	156979024	C	T	VEPH1	c.2401G>A	NM_001167912.2	NP_001161384.1:p.(Ala801Thr)	NC_000003.11:g.156979024C>T	VUS	1 lab	a62da2f1ca
6:35208974 SCUBE3 C>T	6	35208974	35208974	C	T	SCUBE3	c.1126C>T	NM_152753.4	NP_689966.2:p.(Pro376Ser)	NC_000006.11:g.35208974C>T	VUS	1 lab	a62e571dd6
19:57325583 ZIM2 AGCAGCCTCCACTTCTGGCTCG>A	19	57325583	57325624	AGCAGCCTCCACTTCTGGCTCG	A	ZIM2	c.490+3510_490+3530del	NM_001387356.1	NP_001374285.1:p.?	NC_000019.9:g.57325604_57325624del	VUS	1 lab	a630fa94a6
11:17482223 ABCC8 G>A	11	17482223	17482223	G	A	ABCC8	c.823C>T	NM_000352.6	NP_000343.2:p.(Arg275Trp)	NC_000011.9:g.17482223G>A	VUS	1 lab	a638da64d2
7:100634781 MUC12 C>G	7	100634781	100634781	C	G	MUC12	c.937C>G	NM_001164462.2	NP_001157934.1:p.(Pro313Ala)	NC_000007.13:g.100634781C>G	(Likely) benign	1 lab	a638ec799a
1:8684410 RERE T>C	1	8684410	8684410	T	C	RERE	c.355A>G	NM_012102.4	NP_036234.3:p.(Asn119Asp)	NC_000001.10:g.8684410T>C	(Likely) benign	1 lab	27f1bd858c
18:31319521 ASXL3 C>T	18	31319521	31319521	C	T	ASXL3	c.2153C>T	NM_030632.3	NP_085135.1:p.(Pro718Leu)	NC_000018.9:g.31319521C>T	(Likely) benign	1 lab	a63b3593c0
2:179414422 TTN G>C	2	179414422	179414422	G	C	TTN	c.92027C>G	NM_001267550.2	NP_001254479.2:p.(Ala30676Gly)	NC_000002.11:g.179414422G>C	VUS	1 lab	a63c6a34a3
11:17436078 ABCC8 T>A	11	17436078	17436078	T	A	ABCC8	c.2371A>T	NM_000352.6	NP_000343.2:p.(Ser791Cys)	NC_000011.9:g.17436078T>A	VUS	1 lab	a63cb10318
17:78087089 GAA C>G	17	78087089	78087089	C	G	GAA	c.2113C>G	NM_000152.5	NP_000143.2:p.(Leu705Val)	NC_000017.10:g.78087089C>G	(Likely) benign	1 lab	a63d55a930
X:32509493 DMD T>C	X	32509493	32509493	T	C	DMD	c.2523A>G	NM_004006.3	NP_003997.2:p.(Gln841=)	NC_000023.10:g.32509493T>C	(Likely) benign	1 lab	a63da49447
16:89337251 ANKRD11 C>T	16	89337251	89337251	C	T	ANKRD11	c.7780G>A	NM_013275.6	NP_037407.4:p.(Val2594Met)	NC_000016.9:g.89337251C>T	VUS	1 lab	27f9220456
X:66766356 AR TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	T	AR	c.1388_1420del	NM_000044.6	NP_000035.2:p.(Gly463_Gly473del)	NC_000023.10:g.66766376_66766408del	VUS	1 lab	a640a0a163
19:48184333 BICRA C>T	19	48184333	48184333	C	T	BICRA	c.1906C>T	NM_001394372.1	NP_001381301.1:p.(Pro636Ser)	NC_000019.9:g.48184333C>T	(Likely) benign	1 lab	a64116278a
11:119210358 C1QTNF5 C>T	11	119210358	119210358	C	T	C1QTNF5	c.415G>A	NM_001278431.2	NP_001265360.1:p.(Val139Ile)	NC_000011.9:g.119210358C>T	(Likely) benign	1 lab	a642a495cd
2:48030811 MSH6 C>T	2	48030811	48030811	C	T	MSH6	c.3425C>T	NM_000179.3	NP_000170.1:p.(Thr1142Met)	NC_000002.11:g.48030811C>T	VUS	1 lab	a64302f93e
9:137619147 COL5A1 C>G	9	137619147	137619147	C	G	COL5A1	c.690C>G	NM_000093.5	NP_000084.3:p.(His230Gln)	NC_000009.11:g.137619147C>G	(Likely) benign	1 lab	a644ba97c3
6:44268970 AARS2 G>C	6	44268970	44268970	G	C	AARS2	c.2716C>G	NM_020745.4	NP_065796.2:p.(Gln906Glu)	NC_000006.11:g.44268970G>C	(Likely) benign	1 lab	a645227bb8
2:231226365 SP140L G>A	2	231226365	231226365	G	A	SP140L	c.476G>A	NM_138402.6	NP_612411.4:p.(Arg159Gln)	NC_000002.11:g.231226365G>A	VUS	1 lab	a646304f4b
19:38954088 RYR1 G>A	19	38954088	38954088	G	A	RYR1	c.2603G>A	NM_000540.3	NP_000531.2:p.(Arg868His)	NC_000019.9:g.38954088G>A	VUS	1 lab	a648114e91
3:155546090 SLC33A1 A>G	3	155546090	155546090	A	G	SLC33A1	c.1559T>C	NM_004733.4	NP_004724.1:p.(Ile520Thr)	NC_000003.11:g.155546090A>G	VUS	1 lab	a64834b48d
15:99472841 IGF1R T>C	15	99472841	99472841	T	C	IGF1R	c.2837T>C	NM_000875.5	NP_000866.1:p.(Leu946Ser)	NC_000015.9:g.99472841T>C	VUS	1 lab	a64907ae03
21:44839105 SIK1 G>A	21	44839105	44839105	G	A	SIK1	c.1258C>T	NM_173354.5	NP_775490.2:p.(Pro420Ser)	NC_000021.8:g.44839105G>A	VUS	1 lab	a64c058174
11:73676054 DNAJB13 A>G	11	73676054	73676054	A	G	DNAJB13	c.466A>G	NM_153614.4	NP_705842.2:p.(Thr156Ala)	NC_000011.9:g.73676054A>G	VUS	1 lab	a64cee3521
15:75044578 CYP1A2 A>G	15	75044578	75044578	A	G	CYP1A2	c.1156A>G	NM_000761.5	NP_000752.2:p.(Ile386Val)	NC_000015.9:g.75044578A>G	VUS	1 lab	a64d246926
1:23191383 EPHB2 G>T	1	23191383	23191383	G	T	EPHB2	c.981G>T	NM_017449.5	NP_059145.2:p.(Ala327=)	NC_000001.10:g.23191383G>T	VUS	1 lab	a64db75bda
2:196673504 DNAH7 C>T	2	196673504	196673504	C	T	DNAH7	c.9985G>A	NM_018897.3	NP_061720.2:p.(Asp3329Asn)	NC_000002.11:g.196673504C>T	(Likely) benign	1 lab	a64df90273
10:79579775 DLG5 T>G	10	79579775	79579775	T	G	DLG5	c.3404A>C	NM_004747.4	NP_004738.3:p.(Glu1135Ala)	NC_000010.10:g.79579775T>G	(Likely) benign	1 lab	a64f595041
11:17428439 ABCC8 C>T	11	17428439	17428439	C	T	ABCC8	c.3158G>A	NM_000352.6	NP_000343.2:p.(Ser1053Asn)	NC_000011.9:g.17428439C>T	VUS	1 lab	a650c71b27
15:72172798 MYO9A G>A	15	72172798	72172798	G	A	MYO9A	c.5500C>T	NM_006901.4	NP_008832.2:p.(Arg1834Cys)	NC_000015.9:g.72172798G>A	(Likely) benign	1 lab	a65172f884
22:22316792 TOP3B C>T	22	22316792	22316792	C	T	TOP3B	c.1525+9G>A	NM_001282112.2	NP_001269041.1:p.?	NC_000022.10:g.22316792C>T	(Likely) benign	1 lab	a65184c0b1
14:74967710 LTBP2 C>G	14	74967710	74967710	C	G	LTBP2	c.5343G>C	NM_000428.3	NP_000419.1:p.(Leu1781Phe)	NC_000014.8:g.74967710C>G	VUS	1 lab	a6526aaee0
5:149504392 PDGFRB G>A	5	149504392	149504392	G	A	PDGFRB	c.1810C>T	NM_002609.4	NP_002600.1:p.(Arg604Cys)	NC_000005.9:g.149504392G>A	VUS	1 lab	27faf8f7a0
14:57706329 EXOC5 CT>C	14	57706329	57706331	CT	C	EXOC5	c.513del	NM_006544.4	NP_006535.1:p.(Glu172SerfsTer21)	NC_000014.8:g.57706331del	VUS	1 lab	a655b5b33a
15:90210835 PLIN1 C>T	15	90210835	90210835	C	T	PLIN1	c.961G>A	NM_002666.5	NP_002657.3:p.(Glu321Lys)	NC_000015.9:g.90210835C>T	VUS	1 lab	a65611ea08
12:133146716 FBRSL1 C>T	12	133146716	133146716	C	T	FBRSL1	c.896C>T	NM_001367871.1	NP_001354800.1:p.(Pro299Leu)	NC_000012.11:g.133146716C>T	VUS	1 lab	a658a559c2
4:102057662 PPP3CA C>T	4	102057662	102057662	C	T	PPP3CA	c.260-27427G>A	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102057662C>T	(Likely) benign	1 lab	a6597515cb
17:78320397 RNF213 G>T	17	78320397	78320397	G	T	RNF213	c.8262G>T	NM_001256071.3	NP_001243000.2:p.(Met2754Ile)	NC_000017.10:g.78320397G>T	(Likely) benign	1 lab	a659f46c50
18:32459679 DTNA G>A	18	32459679	32459679	G	A	DTNA	c.2158G>A	NM_001386795.1	NP_001373724.1:p.(Asp720Asn)	NC_000018.9:g.32459679G>A	(Likely) benign	1 lab	a65b170999
9:132576387 TOR1A C>T	9	132576387	132576387	C	T	TOR1A	c.863G>A	NM_000113.3	NP_000104.1:p.(Arg288Gln)	NC_000009.11:g.132576387C>T	(Likely) pathogenic	1 lab	a65b601073
6:33405875 SYNGAP1 C>T	6	33405875	33405875	C	T	SYNGAP1	c.1193C>T	NM_006772.3	NP_006763.2:p.(Pro398Leu)	NC_000006.11:g.33405875C>T	VUS	1 lab	a65dc592bb
5:149498359 PDGFRB G>C	5	149498359	149498359	G	C	PDGFRB	c.2855C>G	NM_002609.4	NP_002600.1:p.(Ser952Cys)	NC_000005.9:g.149498359G>C	VUS	1 lab	a65e532c00
15:99460052 IGF1R T>A	15	99460052	99460052	T	A	IGF1R	c.2148T>A	NM_000875.5	NP_000866.1:p.(Ala716=)	NC_000015.9:g.99460052T>A	(Likely) benign	1 lab	a65fac1a74
1:110134776 GNAI3 C>T	1	110134776	110134776	C	T	GNAI3	c.986C>T	NM_006496.4	NP_006487.1:p.(Thr329Met)	NC_000001.10:g.110134776C>T	VUS	1 lab	a66065d060
5:140890595 PCDHGC3 T>G	5	140890595	140890595	T	G	PCDHGC3	c.2660T>G	NM_002588.4	NP_002579.2:p.(Leu887Arg)	NC_000005.9:g.140890595T>G	VUS	1 lab	a6616437aa
1:151700081 RIIAD1 C>T	1	151700081	151700081	C	T	RIIAD1	c.192C>T	NM_001144956.3	NP_001138428.1:p.(Ile64=)	NC_000001.10:g.151700081C>T	(Likely) benign	1 lab	a6621eb7f3
10:45484728 RASSF4 G>A	10	45484728	45484728	G	A	RASSF4	c.538G>A	NM_032023.4	NP_114412.2:p.(Val180Met)	NC_000010.10:g.45484728G>A	VUS	1 lab	a6629ff240
1:225305435 DNAH14 G>A	1	225305435	225305435	G	A	DNAH14	c.3917G>A	NM_001367479.1	NP_001354408.1:p.(Ser1306Asn)	NC_000001.10:g.225305435G>A	VUS	1 lab	a663242c2a
16:75563373 CHST5 C>A	16	75563373	75563373	C	A	CHST5	c.910G>T	NM_024533.5	NP_078809.2:p.(Ala304Ser)	NC_000016.9:g.75563373C>A	VUS	1 lab	a6671cef0c
11:92532372 FAT3 G>A	11	92532372	92532372	G	A	FAT3	c.6193G>A	NM_001367949.2	NP_001354878.1:p.(Val2065Met)	NC_000011.9:g.92532372G>A	VUS	1 lab	a66757875d
15:100801678 ADAMTS17 T>A	15	100801678	100801678	T	A	ADAMTS17	c.1031+6A>T	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100801678T>A	(Likely) benign	1 lab	a66781f78c
6:39847094 DAAM2 C>A	6	39847094	39847094	C	A	DAAM2	c.1686C>A	NM_001201427.2	NP_001188356.1:p.(Pro562=)	NC_000006.11:g.39847094C>A	VUS	1 lab	a668739118
4:6303629 WFS1 C>T	4	6303629	6303629	C	T	WFS1	c.2107C>T	NM_006005.3	NP_005996.2:p.(Arg703Cys)	NC_000004.11:g.6303629C>T	(Likely) pathogenic	1 lab	a66a61281d
18:60036547 TNFRSF11A G>A	18	60036547	60036547	G	A	TNFRSF11A	c.1397G>A	NM_003839.4	NP_003830.1:p.(Arg466His)	NC_000018.9:g.60036547G>A	(Likely) benign	1 lab	a66aa4ff25
13:45148617 TSC22D1 C>T	13	45148617	45148617	C	T	TSC22D1	c.1594G>A	NM_183422.4	NP_904358.2:p.(Ala532Thr)	NC_000013.10:g.45148617C>T	(Likely) benign	1 lab	a66bb4ec84
5:180039607 FLT4 G>A	5	180039607	180039607	G	A	FLT4	c.3436C>T	NM_182925.5	NP_891555.2:p.(Arg1146Cys)	NC_000005.9:g.180039607G>A	VUS	1 lab	a66c13a9f8
7:99270222 CYP3A5 G>T	7	99270222	99270222	G	T	CYP3A5	c.299C>A	NM_000777.5	NP_000768.1:p.(Ser100Tyr)	NC_000007.13:g.99270222G>T	VUS	1 lab	a66c32438a
19:18192977 IL12RB1 G>C	19	18192977	18192977	G	C	IL12RB1	c.222C>G	NM_005535.1	NP_005526.1:p.(Ser74Arg)	NC_000019.9:g.18192977G>C	(Likely) benign	1 lab	295f6122c3
17:60088382 MED13 A>G	17	60088382	60088382	A	G	MED13	c.1496T>C	NM_005121.3	NP_005112.2:p.(Ile499Thr)	NC_000017.10:g.60088382A>G	(Likely) benign	1 lab	a66cf5ac07
8:145140649 GPAA1 A>G	8	145140649	145140649	A	G	GPAA1	c.1622+3A>G	NM_003801.4	NP_003792.1:p.?	NC_000008.10:g.145140649A>G	(Likely) benign	1 lab	a66daa86f2
19:35435496 ZNF30 T>A	19	35435496	35435496	T	A	ZNF30	c.1626T>A	NM_194325.3	NP_919306.2:p.(Cys542Ter)	NC_000019.9:g.35435496T>A	(Likely) benign	1 lab	a670e4bda4
19:42486635 ATP1A3 G>A	19	42486635	42486635	G	A	ATP1A3	c.994-377C>T	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42486635G>A	(Likely) benign	1 lab	a671057b99
7:107556070 DLD G>GGGGT	7	107556070	107556074	G	GGGGT	DLD	c.805_808dup	NM_000108.5	NP_000099.2:p.(Phe270TrpfsTer3)	NC_000007.13:g.107556071_107556074dup	VUS	1 lab	a6724b810f
5:14472201 TRIO A>G	5	14472201	14472201	A	G	TRIO	c.5913-500A>G	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14472201A>G	(Likely) benign	1 lab	a67335b053
20:34022324 GDF5 A>G	20	34022324	34022324	A	G	GDF5	c.889T>C	NM_000557.5	NP_000548.2:p.(Trp297Arg)	NC_000020.10:g.34022324A>G	VUS	1 lab	a6b96330e4
X:5811063 NLGN4X T>C	X	5811063	5811063	T	C	NLGN4X	c.2246A>G	NM_181332.3	NP_851849.1:p.(His749Arg)	NC_000023.10:g.5811063T>C	(Likely) benign	1 lab	a673f81d16
14:74989590 LTBP2 G>T	14	74989590	74989590	G	T	LTBP2	c.2562C>A	NM_000428.3	NP_000419.1:p.(Asn854Lys)	NC_000014.8:g.74989590G>T	VUS	1 lab	a6740007a6
3:41279537 CTNNB1 C>T	3	41279537	41279537	C	T	CTNNB1	c.2107C>T	NM_001904.4	NP_001895.1:p.(Gln703Ter)	NC_000003.11:g.41279537C>T	(Likely) pathogenic	1 lab	a67878734f
6:129618966 LAMA2 G>T	6	129618966	129618966	G	T	LAMA2	c.2993G>T	NM_000426.4	NP_000417.3:p.(Arg998Leu)	NC_000006.11:g.129618966G>T	VUS	1 lab	a6787b980a
17:1628432 WDR81 C>A	17	1628432	1628432	C	A	WDR81	c.179C>A	NM_001163809.2	NP_001157281.1:p.(Ala60Glu)	NC_000017.10:g.1628432C>A	(Likely) benign	1 lab	a6795ce4bd
1:45973028 MMACHC G>A	1	45973028	45973028	G	A	MMACHC	c.82G>A	NM_015506.3	NP_056321.2:p.(Val28Met)	NC_000001.10:g.45973028G>A	VUS	1 lab	a679798a55
19:38942486 RYR1 T>C	19	38942486	38942486	T	C	RYR1	c.1205T>C	NM_000540.3	NP_000531.2:p.(Met402Thr)	NC_000019.9:g.38942486T>C	(Likely) pathogenic	1 lab	a67ae97d22
15:48755287 FBN1 G>A	15	48755287	48755287	G	A	FBN1	c.5216C>T	NM_000138.5	NP_000129.3:p.(Pro1739Leu)	NC_000015.9:g.48755287G>A	VUS	1 lab	a67af937d9
19:51171414 SHANK1 C>CCGCCGTCCT	19	51171414	51171425	C	CCGCCGTCCT	SHANK1	c.3794_3802dup	NM_016148.5	NP_057232.2:p.(Glu1265_Gly1267dup)	NC_000019.9:g.51171417_51171425dup	VUS	1 lab	a67b47ef8a
5:13917360 DNAH5 C>A	5	13917360	13917360	C	A	DNAH5	c.981G>T	NM_001369.3	NP_001360.1:p.(Trp327Cys)	NC_000005.9:g.13917360C>A	VUS	1 lab	a67f06bdd1
12:56566207 SMARCC2 A>G	12	56566207	56566207	A	G	SMARCC2	c.1926+5T>C	NM_001330288.2	NP_001317217.1:p.?	NC_000012.11:g.56566207A>G	(Likely) benign	1 lab	a682b682b0
13:48832975 ITM2B A>G	13	48832975	48832975	A	G	ITM2B	c.607A>G	NM_021999.5	NP_068839.1:p.(Met203Val)	NC_000013.10:g.48832975A>G	VUS	1 lab	a68328567f
5:10973726 CTNND2 C>T	5	10973726	10973726	C	T	CTNND2	c.3517G>A	NM_001332.4	NP_001323.1:p.(Glu1173Lys)	NC_000005.9:g.10973726C>T	VUS	1 lab	a6847552a3
9:135781431 TSC1 G>A	9	135781431	135781431	G	A	TSC1	c.1534C>T	NM_000368.5	NP_000359.1:p.(Leu512Phe)	NC_000009.11:g.135781431G>A	VUS	1 lab	a684f95996
16:74695018 RFWD3 G>C	16	74695018	74695018	G	C	RFWD3	c.330C>G	NM_018124.4	NP_060594.3:p.(His110Gln)	NC_000016.9:g.74695018G>C	(Likely) benign	1 lab	a685051f52
17:39464638 KRTAP16-1 C>A	17	39464638	39464638	C	A	KRTAP16-1	c.868G>T	NM_001146182.2	NP_001139654.1:p.(Glu290Ter)	NC_000017.10:g.39464638C>A	VUS	1 lab	a685950452
11:7718249 OVCH2 T>G	11	7718249	7718249	T	G	OVCH2	c.1016+7A>C	NM_198185.7	NP_937828.3:p.?	NC_000011.9:g.7718249T>G	(Likely) benign	1 lab	a685e2fcb2
16:1269071 CACNA1H G>A	16	1269071	1269071	G	A	CACNA1H	c.5989G>A	NM_021098.3	NP_066921.2:p.(Ala1997Thr)	NC_000016.9:g.1269071G>A	(Likely) benign	1 lab	296142b52d
7:11030407 PHF14 G>A	7	11030407	11030407	G	A	PHF14	c.978G>A	NM_001007157.2	NP_001007158.1:p.(Leu326=)	NC_000007.13:g.11030407G>A	(Likely) benign	1 lab	a6877f41d2
1:22213958 HSPG2 C>T	1	22213958	22213958	C	T	HSPG2	c.913G>A	NM_005529.7	NP_005520.4:p.(Asp305Asn)	NC_000001.10:g.22213958C>T	VUS	1 lab	a687cf72b2
6:91256978 MAP3K7 T>C	6	91256978	91256978	T	C	MAP3K7	c.1209A>G	NM_145331.3	NP_663304.1:p.(Thr403=)	NC_000006.11:g.91256978T>C	(Likely) benign	1 lab	a687efb48a
19:38943650 RYR1 AGGAGGTGAGGACGTGGCGAGGGCGGAG>A	19	38943650	38943677	AGGAGGTGAGGACGTGGCGAGGGCGGAG	A	RYR1	c.1437_1440+23del	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38943651_38943677del	VUS	1 lab	a6880c3f47
19:45998233 RTN2 A>C	19	45998233	45998233	A	C	RTN2	c.110T>G	NM_005619.5	NP_005610.1:p.(Leu37Arg)	NC_000019.9:g.45998233A>C	VUS	1 lab	a6a75199f6
1:6203924 CHD5 C>G	1	6203924	6203924	C	G	CHD5	c.2002G>C	NM_015557.3	NP_056372.1:p.(Asp668His)	NC_000001.10:g.6203924C>G	(Likely) benign	1 lab	a6888db87c
5:7868313 FASTKD3 GAAAA>G	5	7868313	7868336	GAAAA	G	FASTKD3	c.-113-8_-113-5del	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868333_7868336del	(Likely) benign	1 lab	a68b06f001
1:156834543 NTRK1 G>A	1	156834543	156834543	G	A	NTRK1	c.311G>A	NM_002529.4	NP_002520.2:p.(Arg104His)	NC_000001.10:g.156834543G>A	(Likely) benign	1 lab	a68b146387
9:19063081 HAUS6 A>T	9	19063081	19063081	A	T	HAUS6	c.1554T>A	NM_017645.5	NP_060115.3:p.(Ser518Arg)	NC_000009.11:g.19063081A>T	(Likely) benign	1 lab	a68ecbf2d5
14:63269287 KCNH5 A>T	14	63269287	63269287	A	T	KCNH5	c.1582T>A	NM_139318.5	NP_647479.2:p.(Cys528Ser)	NC_000014.8:g.63269287A>T	VUS	1 lab	a6acfac05d
3:10114944 FANCD2 A>G	3	10114944	10114944	A	G	FANCD2	c.2613A>G	NM_001018115.3	NP_001018125.1:p.(Lys871=)	NC_000003.11:g.10114944A>G	VUS	1 lab	a69086c183
6:13325368 TBC1D7 G>A	6	13325368	13325368	G	A	TBC1D7	c.151C>T	NM_016495.6	NP_057579.1:p.(Leu51Phe)	NC_000006.11:g.13325368G>A	VUS	1 lab	a690aeb642
18:2656216 SMCHD1 G>C	18	2656216	2656216	G	C	SMCHD1	c.142G>C	NM_015295.3	NP_056110.2:p.(Gly48Arg)	NC_000018.9:g.2656216G>C	VUS	1 lab	a6c51f7875
20:42984474 HNF4A T>C	20	42984474	42984474	T	C	HNF4A	c.30T>C	NM_175914.5	NP_787110.2:p.(Ala10=)	NC_000020.10:g.42984474T>C	(Likely) benign	1 lab	a690ff2d00
12:2743511 CACNA1C G>A	12	2743511	2743511	G	A	CACNA1C	c.3877G>A	NM_000719.7	NP_000710.5:p.(Gly1293Ser)	NC_000012.11:g.2743511G>A	VUS	1 lab	a691c32e4b
2:48059944 FBXO11 T>C	2	48059944	48059944	T	C	FBXO11	c.1117A>G	NM_001190274.2	NP_001177203.1:p.(Ile373Val)	NC_000002.11:g.48059944T>C	(Likely) benign	1 lab	a69237eeb2
3:189612077 TP63 TCTC>T	3	189612077	189612084	TCTC	T	TP63	c.1834_1836del	NM_003722.5	NP_003713.3:p.(Ser612del)	NC_000003.11:g.189612082_189612084del	VUS	1 lab	a6925ef0c9
17:7806752 CHD3 A>T	17	7806752	7806752	A	T	CHD3	c.3658A>T	NM_001005273.3	NP_001005273.1:p.(Met1220Leu)	NC_000017.10:g.7806752A>T	VUS	1 lab	a6929019b3
6:97580619 KLHL32 T>C	6	97580619	97580619	T	C	KLHL32	c.1697T>C	NM_052904.4	NP_443136.2:p.(Ile566Thr)	NC_000006.11:g.97580619T>C	VUS	1 lab	a6937a5c49
1:173795803 DARS2 C>CTTT	1	173795803	173795820	C	CTTT	DARS2	c.128-7_128-5dup	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173795818_173795820dup	(Likely) benign	1 lab	a694f6fce1
9:32481339 RIGI C>T	9	32481339	32481339	C	T	RIGI	c.1637G>A	NM_014314.4	NP_055129.2:p.(Arg546Gln)	NC_000009.11:g.32481339C>T	(Likely) benign	1 lab	a6954c0a79
11:66811147 SYT12 G>A	11	66811147	66811147	G	A	SYT12	c.660G>A	NM_177963.4	NP_808878.1:p.(Lys220=)	NC_000011.9:g.66811147G>A	(Likely) benign	1 lab	a696838bba
1:198697556 PTPRC A>G	1	198697556	198697556	A	G	PTPRC	c.1808A>G	NM_002838.5	NP_002829.3:p.(Asp603Gly)	NC_000001.10:g.198697556A>G	VUS	1 lab	2803b8ef04
11:2604711 KCNQ1 G>A	11	2604711	2604711	G	A	KCNQ1	c.968G>A	NM_000218.3	NP_000209.2:p.(Trp323Ter)	NC_000011.9:g.2604711G>A	(Likely) pathogenic	1 lab	a69a28176b
15:78786269 IREB2 C>A	15	78786269	78786269	C	A	IREB2	c.2343C>A	NM_004136.4	NP_004127.2:p.(Phe781Leu)	NC_000015.9:g.78786269C>A	VUS	1 lab	a69a6406ef
1:237527692 RYR2 A>C	1	237527692	237527692	A	C	RYR2	c.309+20A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237527692A>C	(Likely) benign	1 lab	22f962fb16
X:17080618 REPS2 C>T	X	17080618	17080618	C	T	REPS2	c.1172C>T	NM_004726.3	NP_004717.2:p.(Pro391Leu)	NC_000023.10:g.17080618C>T	(Likely) benign	1 lab	a69ab02ae2
7:82581487 PCLO T>TTTC	7	82581487	82581490	T	TTTC	PCLO	c.8779_8781dup	NM_033026.6	NP_149015.2:p.(Glu2927dup)	NC_000007.13:g.82581488_82581490dup	VUS	1 lab	a69b76cb9f
16:67692032 ACD G>A	16	67692032	67692032	G	A	ACD	c.1063C>T	NM_001082486.2	NP_001075955.2:p.(Pro355Ser)	NC_000016.9:g.67692032G>A	VUS	1 lab	a69da12130
22:21134142 SERPIND1 T>C	22	21134142	21134142	T	C	SERPIND1	c.542T>C	NM_000185.4	NP_000176.2:p.(Leu181Ser)	NC_000022.10:g.21134142T>C	VUS	1 lab	a69e0caa64
3:184008995 ECE2 G>A	3	184008995	184008995	G	A	ECE2	c.2002G>A	NM_001100121.2	NP_001093591.1:p.(Gly668Arg)	NC_000003.11:g.184008995G>A	(Likely) benign	1 lab	a69ebac969
1:17371313 SDHB T>A	1	17371313	17371313	T	A	SDHB	c.143A>T	NM_003000.3	NP_002991.2:p.(Asp48Val)	NC_000001.10:g.17371313T>A	(Likely) pathogenic	1 lab	2806186467
14:45646186 FANCM T>G	14	45646186	45646186	T	G	FANCM	c.4222+7T>G	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45646186T>G	(Likely) benign	1 lab	a6a0710d8a
20:45017819 ELMO2 G>A	20	45017819	45017819	G	A	ELMO2	c.284C>T	NM_133171.5	NP_573403.1:p.(Ser95Phe)	NC_000020.10:g.45017819G>A	(Likely) benign	1 lab	a6a1172827
7:92733499 SAMD9 A>G	7	92733499	92733499	A	G	SAMD9	c.1912T>C	NM_017654.4	NP_060124.2:p.(Ser638Pro)	NC_000007.13:g.92733499A>G	VUS	1 lab	a6a3062c7d
10:95549970 LGI1 A>T	10	95549970	95549970	A	T	LGI1	c.503+43A>T	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95549970A>T	(Likely) benign	1 lab	296a150ebd
11:66307241 ZDHHC24 G>A	11	66307241	66307241	G	A	ZDHHC24	c.614C>T	NM_207340.3	NP_997223.1:p.(Ala205Val)	NC_000011.9:g.66307241G>A	VUS	1 lab	a6a5d10e7a
7:44185236 GCK G>C	7	44185236	44185236	G	C	GCK	c.1113C>G	NM_000162.5	NP_000153.1:p.(Cys371Trp)	NC_000007.13:g.44185236G>C	(Likely) pathogenic	1 lab	a6a8bb2239
15:89382194 ACAN G>A	15	89382194	89382194	G	A	ACAN	c.371G>A	NM_001369268.1	NP_001356197.1:p.(Arg124His)	NC_000015.9:g.89382194G>A	VUS	1 lab	a6aa0a7a28
19:33698419 LRP3 C>T	19	33698419	33698419	C	T	LRP3	c.2251C>T	NM_002333.4	NP_002324.2:p.(Pro751Ser)	NC_000019.9:g.33698419C>T	VUS	1 lab	a6aace0cba
11:61541437 MYRF A>C	11	61541437	61541437	A	C	MYRF	c.1116-2A>C	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61541437A>C	(Likely) benign	1 lab	a6ad20c7cf
1:152328242 FLG2 C>T	1	152328242	152328242	C	T	FLG2	c.2020G>A	NM_001014342.3	NP_001014364.1:p.(Gly674Ser)	NC_000001.10:g.152328242C>T	VUS	1 lab	a6adc8cd78
16:81118079 GCSH C>T	16	81118079	81118079	C	T	GCSH	c.413G>A	NM_004483.5	NP_004474.2:p.(Cys138Tyr)	NC_000016.9:g.81118079C>T	VUS	1 lab	a6ae9c87c4
9:136223541 SURF2 C>T	9	136223541	136223541	C	T	SURF2	c.73C>T	NM_017503.5	NP_059973.4:p.(Arg25Cys)	NC_000009.11:g.136223541C>T	(Likely) benign	1 lab	a6afff167d
5:93727244 KIAA0825 T>C	5	93727244	93727244	T	C	KIAA0825	c.3452A>G	NM_001145678.3	NP_001139150.1:p.(Asn1151Ser)	NC_000005.9:g.93727244T>C	VUS	1 lab	a6b16e10a0
19:17758071 UNC13A C>T	19	17758071	17758071	C	T	UNC13A	c.2044+3G>A	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17758071C>T	(Likely) benign	1 lab	a6b36a2927
1:16247757 SPEN G>A	1	16247757	16247757	G	A	SPEN	c.1749+279G>A	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16247757G>A	(Likely) benign	1 lab	a6b4053485
14:23790699 PABPN1 G>GGCGGCA	14	23790699	23790702	G	GGCGGCA	PABPN1	c.23_24insGGCAGC	NM_004643.4	NP_004634.1:p.(Ala10_Ala11dup)	NC_000014.8:g.23790701_23790702insGGCAGC	(Likely) pathogenic	1 lab	a6b4161898
5:32089282 PDZD2 G>A	5	32089282	32089282	G	A	PDZD2	c.5728G>A	NM_178140.4	NP_835260.2:p.(Gly1910Arg)	NC_000005.9:g.32089282G>A	(Likely) benign	1 lab	a6b452bc74
10:97369984 ALDH18A1 G>A	10	97369984	97369984	G	A	ALDH18A1	c.2176C>T	NM_002860.4	NP_002851.2:p.(Arg726Cys)	NC_000010.10:g.97369984G>A	(Likely) pathogenic	1 lab	a6b5792e6e
11:117280525 CEP164 T>A	11	117280525	117280525	T	A	CEP164	c.3940T>A	NM_014956.5	NP_055771.4:p.(Tyr1314Asn)	NC_000011.9:g.117280525T>A	(Likely) benign	1 lab	a6b7d3fe43
1:160093209 ATP1A2 G>A	1	160093209	160093209	G	A	ATP1A2	c.381+3G>A	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160093209G>A	(Likely) benign	1 lab	a6b835530d
10:79797178 RPS24 CTCT>C	10	79797178	79797187	CTCT	C	RPS24	c.390+123_390+125del	NM_033022.4	NP_148982.1:p.?	NC_000010.10:g.79797185_79797187del	(Likely) benign	1 lab	a6b9797c90
18:55322436 ATP8B1 T>C	18	55322436	55322436	T	C	ATP8B1	c.2921A>G	NM_001374385.1	NP_001361314.1:p.(Tyr974Cys)	NC_000018.9:g.55322436T>C	VUS	1 lab	a6b997f654
2:85895338 SFTPB T>G	2	85895338	85895338	T	G	SFTPB				NC_000002.11:g.85895338T>G	(Likely) benign	1 lab	28064615ec
4:5710065 EVC2 C>G	4	5710065	5710065	C	G	EVC2	c.176G>C	NM_147127.5	NP_667338.3:p.(Gly59Ala)	NC_000004.11:g.5710065C>G	(Likely) benign	1 lab	a6ba6e9527
19:58944778 ZNF132 G>T	19	58944778	58944778	G	T	ZNF132	c.2033C>A	NM_003433.4	NP_003424.3:p.(Thr678Asn)	NC_000019.9:g.58944778G>T	VUS	1 lab	a6ba9eb8f2
16:81388206 GAN A>G	16	81388206	81388206	A	G	GAN	c.479A>G	NM_022041.3	NP_071324.1:p.(His160Arg)	NC_000016.9:g.81388206A>G	VUS	1 lab	296c5f21d8
20:31023149 ASXL1 T>A	20	31023149	31023149	T	A	ASXL1	c.2634T>A	NM_015338.6	NP_056153.2:p.(Ser878Arg)	NC_000020.10:g.31023149T>A	(Likely) benign	1 lab	a6bc9f0586
10:97444330 TCTN3 C>T	10	97444330	97444330	C	T	TCTN3	c.1021G>A	NM_015631.6	NP_056446.4:p.(Val341Ile)	NC_000010.10:g.97444330C>T	VUS	1 lab	a6bd2b6705
2:152408283 NEB C>T	2	152408283	152408283	C	T	NEB	c.19913G>A	NM_001164508.2	NP_001157980.2:p.(Arg6638Gln)	NC_000002.11:g.152408283C>T	VUS	1 lab	a6bd6e1563
8:125047645 FER1L6 C>T	8	125047645	125047645	C	T	FER1L6	c.2414C>T	NM_001039112.2	NP_001034201.2:p.(Ser805Phe)	NC_000008.10:g.125047645C>T	(Likely) benign	1 lab	a6be0f3266
4:1801550 FGFR3 G>C	4	1801550	1801550	G	C	FGFR3	c.445+11G>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1801550G>C	(Likely) benign	1 lab	a6be8e1bb7
9:140161443 NELFB G>A	9	140161443	140161443	G	A	NELFB	c.1287G>A	NM_015456.5	NP_056271.3:p.(Leu429=)	NC_000009.11:g.140161443G>A	VUS	1 lab	a6c10118d0
15:81614811 STARD5 C>T	15	81614811	81614811	C	T	STARD5	c.220G>A	NM_181900.3	NP_871629.1:p.(Gly74Ser)	NC_000015.9:g.81614811C>T	(Likely) benign	1 lab	a6c15c44f4
3:9517577 SETD5 C>T	3	9517577	9517577	C	T	SETD5	c.4131C>T	NM_001080517.3	NP_001073986.1:p.(Asn1377=)	NC_000003.11:g.9517577C>T	(Likely) benign	1 lab	a6cd6e4a68
17:57125174 TRIM37 G>GAT	17	57125174	57125175	G	GAT	TRIM37	c.1536_1537insAT	NM_015294.6	NP_056109.1:p.(Leu513IlefsTer17)	NC_000017.10:g.57125174_57125175insAT	VUS	1 lab	a6c4249637
3:59999942 FHIT A>G	3	59999942	59999942	A	G	FHIT	c.104-64T>C	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.59999942A>G	(Likely) benign	1 lab	a6c5b2a670
5:133948419 SAR1B A>G	5	133948419	133948419	A	G	SAR1B	c.206T>C	NM_001033503.3	NP_001028675.1:p.(Met69Thr)	NC_000005.9:g.133948419A>G	VUS	1 lab	2806a4f652
X:17744523 NHS C>T	X	17744523	17744523	C	T	NHS	c.2297C>T	NM_001291867.2	NP_001278796.1:p.(Ser766Phe)	NC_000023.10:g.17744523C>T	VUS	1 lab	a6c6a1dd95
5:42700016 GHR C>A	5	42700016	42700016	C	A	GHR	c.530C>A	NM_000163.5	NP_000154.1:p.(Ala177Glu)	NC_000005.9:g.42700016C>A	VUS	1 lab	a6c9da0b7d
17:3801327 P2RX1 G>A	17	3801327	3801327	G	A	P2RX1	c.1110C>T	NM_002558.4	NP_002549.1:p.(Tyr370=)	NC_000017.10:g.3801327G>A	(Likely) benign	1 lab	296e0c02f7
19:13051348 CALR C>T	19	13051348	13051348	C	T	CALR	c.703-7C>T	NM_004343.4	NP_004334.1:p.?	NC_000019.9:g.13051348C>T	(Likely) benign	1 lab	a6caa72572
2:179428877 TTN T>C	2	179428877	179428877	T	C	TTN	c.81982A>G	NM_001267550.2	NP_001254479.2:p.(Thr27328Ala)	NC_000002.11:g.179428877T>C	VUS	1 lab	2808a11c3f
15:63987093 HERC1 C>A	15	63987093	63987093	C	A	HERC1	c.5122G>T	NM_003922.4	NP_003913.3:p.(Asp1708Tyr)	NC_000015.9:g.63987093C>A	VUS	1 lab	a6cd15a179
8:27319274 CHRNA2 G>A	8	27319274	27319274	G	A	CHRNA2	c.1465-3C>T	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27319274G>A	(Likely) benign	1 lab	a6cd2aaf98
17:7951774 ALOX15B A>G	17	7951774	7951774	A	G	ALOX15B	c.1922A>G	NM_001141.3	NP_001132.2:p.(Gln641Arg)	NC_000017.10:g.7951774A>G	VUS	1 lab	2809f6338d
2:37121057 STRN G>A	2	37121057	37121057	G	A	STRN	c.915C>T	NM_003162.4	NP_003153.2:p.(Gly305=)	NC_000002.11:g.37121057G>A	VUS	1 lab	a6cfa92e89
4:995783 IDUA C>G	4	995783	995783	C	G	IDUA	c.806C>G	NM_000203.5	NP_000194.2:p.(Ser269Cys)	NC_000004.11:g.995783C>G	VUS	1 lab	a6d0098d82
22:24124518 MMP11 G>T	22	24124518	24124518	G	T	MMP11	c.1181G>T	NM_005940.5	NP_005931.2:p.(Gly394Val)	NC_000022.10:g.24124518G>T	VUS	1 lab	a6d2a06a30
8:145661528 TONSL G>T	8	145661528	145661528	G	T	TONSL	c.2288C>A	NM_013432.5	NP_038460.4:p.(Ser763Ter)	NC_000008.10:g.145661528G>T	VUS	1 lab	a6d2ce6c50
3:66023892 MAGI1 G>T	3	66023892	66023892	G	T	MAGI1	c.92C>A	NM_001033057.2	NP_001028229.1:p.(Thr31Lys)	NC_000003.11:g.66023892G>T	(Likely) benign	1 lab	a6d44aae9f
2:179441527 TTN T>C	2	179441527	179441527	T	C	TTN	c.69444A>G	NM_001267550.2	NP_001254479.2:p.(Val23148=)	NC_000002.11:g.179441527T>C	VUS	1 lab	a6d61f3d78
2:25978882 ASXL2 C>T	2	25978882	25978882	C	T	ASXL2	c.1036+5G>A	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25978882C>T	VUS	1 lab	a6d8480517
1:200882687 INAVA G>A	1	200882687	200882687	G	A	INAVA	c.1667G>A	NM_001142569.3	NP_001136041.1:p.(Arg556Gln)	NC_000001.10:g.200882687G>A	(Likely) benign	1 lab	a6d89766da
3:158370003 GFM1 G>A	3	158370003	158370003	G	A	GFM1	c.808G>A	NM_024996.7	NP_079272.4:p.(Glu270Lys)	NC_000003.11:g.158370003G>A	VUS	1 lab	a6d8ec9ee9
12:102154930 GNPTAB A>G	12	102154930	102154930	A	G	GNPTAB	c.3110T>C	NM_024312.5	NP_077288.2:p.(Ile1037Thr)	NC_000012.11:g.102154930A>G	VUS	1 lab	a6da82c2ad
16:3790391 CREBBP C>T	16	3790391	3790391	C	T	CREBBP	c.4133+9G>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3790391C>T	(Likely) benign	1 lab	a6db02a53c
8:144999070 PLEC C>T	8	144999070	144999070	C	T	PLEC	c.5027G>A	NM_201384.3	NP_958786.1:p.(Arg1676His)	NC_000008.10:g.144999070C>T	VUS	1 lab	a6dd82c7a6
2:168101187 XIRP2 A>T	2	168101187	168101187	A	T	XIRP2	c.3285A>T	NM_152381.6	NP_689594.4:p.(Lys1095Asn)	NC_000002.11:g.168101187A>T	VUS	1 lab	a6df1ad25f
20:49552733 DPM1 C>A	20	49552733	49552733	C	A	DPM1	c.630G>T	NM_003859.3	NP_003850.1:p.(Gln210His)	NC_000020.10:g.49552733C>A	(Likely) benign	1 lab	a6dffe9fa9
13:25826055 MTMR6 G>C	13	25826055	25826055	G	C	MTMR6	c.1414C>G	NM_004685.5	NP_004676.3:p.(Leu472Val)	NC_000013.10:g.25826055G>C	(Likely) benign	1 lab	a6e130c130
12:49981514 FAM186B C>G	12	49981514	49981514	C	G	FAM186B	c.2556G>C	NM_032130.3	NP_115506.1:p.(Glu852Asp)	NC_000012.11:g.49981514C>G	VUS	1 lab	a6e23ceac4
13:35734134 NBEA G>C	13	35734134	35734134	G	C	NBEA	c.3826G>C	NM_001385012.1	NP_001371941.1:p.(Glu1276Gln)	NC_000013.10:g.35734134G>C	VUS	1 lab	a6e2c987b6
1:11187767 MTOR C>T	1	11187767	11187767	C	T	MTOR	c.6130G>A	NM_004958.4	NP_004949.1:p.(Val2044Met)	NC_000001.10:g.11187767C>T	VUS	1 lab	a6e36ea15c
17:6331822 AIPL1 G>A	17	6331822	6331822	G	A	AIPL1	c.281C>T	NM_014336.5	NP_055151.3:p.(Thr94Met)	NC_000017.10:g.6331822G>A	VUS	1 lab	a6e3f0a583
17:10300303 MYH8 C>A	17	10300303	10300303	C	A	MYH8	c.4179G>T	NM_002472.3	NP_002463.2:p.(Lys1393Asn)	NC_000017.10:g.10300303C>A	VUS	1 lab	a6e4246df3
1:32667589 CCDC28B C>T	1	32667589	32667589	C	T	CCDC28B	c.53C>T	NM_024296.5	NP_077272.2:p.(Ala18Val)	NC_000001.10:g.32667589C>T	VUS	1 lab	a6e608cb75
7:11871496 THSD7A A>AGCAGCT	7	11871496	11871506	A	AGCAGCT	THSD7A	c.71_76dup	NM_015204.3	NP_056019.1:p.(Gln24_Leu25dup)	NC_000007.13:g.11871501_11871506dup	(Likely) benign	1 lab	a6e6169074
17:73732721 ITGB4 C>T	17	73732721	73732721	C	T	ITGB4	c.1936C>T	NM_000213.5	NP_000204.3:p.(Arg646Cys)	NC_000017.10:g.73732721C>T	VUS	1 lab	a6e67d1d65
4:88537261 DSPP A>AAGCAGCGACAGCAGCGAT	4	88537261	88537276	A	AAGCAGCGACAGCAGCGAT	DSPP	c.3461_3462insCGATAGCAGCGACAGCAG	NM_014208.3	NP_055023.2:p.(Asp1173_Ser1178dup)	NC_000004.11:g.88537275_88537276insCGATAGCAGCGACAGCAG	(Likely) benign	1 lab	a6e6d3a0a7
10:81065882 ZMIZ1 G>A	10	81065882	81065882	G	A	ZMIZ1	c.2449G>A	NM_020338.4	NP_065071.1:p.(Asp817Asn)	NC_000010.10:g.81065882G>A	(Likely) benign	1 lab	a6e70834db
9:140127302 SLC34A3 T>C	9	140127302	140127302	T	C	SLC34A3	c.371T>C	NM_001177316.2	NP_001170787.2:p.(Ile124Thr)	NC_000009.11:g.140127302T>C	VUS	1 lab	a6eaeda2a2
4:1206122 CTBP1 C>A	4	1206122	1206122	C	A	CTBP1	c.1196G>T	NM_001012614.2	NP_001012632.1:p.(Gly399Val)	NC_000004.11:g.1206122C>A	VUS	1 lab	a6eb7062cd
5:149759127 TCOF1 A>C	5	149759127	149759127	A	C	TCOF1	c.2691A>C	NM_001371623.1	NP_001358552.1:p.(Arg897Ser)	NC_000005.9:g.149759127A>C	VUS	1 lab	a6ec4d7959
12:123699354 MPHOSPH9 G>A	12	123699354	123699354	G	A	MPHOSPH9	c.1024C>T	NM_022782.4	NP_073619.3:p.(Arg342Cys)	NC_000012.11:g.123699354G>A	VUS	1 lab	a6ed3bd20d
7:151949788 KMT2C A>G	7	151949788	151949788	A	G	KMT2C	c.1312T>C	NM_170606.3	NP_733751.2:p.(Cys438Arg)	NC_000007.13:g.151949788A>G	VUS	1 lab	a6ed5b91a8
21:47421967 COL6A1 C>T	21	47421967	47421967	C	T	COL6A1	c.2049C>T	NM_001848.3	NP_001839.2:p.(Asn683=)	NC_000021.8:g.47421967C>T	(Likely) benign	1 lab	a6ee28a1e8
17:38245462 THRA G>A	17	38245462	38245462	G	A	THRA	c.986G>A	NM_199334.5	NP_955366.1:p.(Arg329His)	NC_000017.10:g.38245462G>A	VUS	1 lab	a6ee3180fe
12:42499683 GXYLT1 T>G	12	42499683	42499683	T	G	GXYLT1	c.801A>C	NM_173601.2	NP_775872.1:p.(Lys267Asn)	NC_000012.11:g.42499683T>G	VUS	1 lab	a6ee6dc740
16:72090434 HP G>A	16	72090434	72090434	G	A	HP	c.94G>A	NM_005143.5	NP_005134.1:p.(Gly32Ser)	NC_000016.9:g.72090434G>A	VUS	1 lab	a6ef2576d0
15:90167919 TICRR G>A	15	90167919	90167919	G	A	TICRR	c.4378G>A	NM_152259.4	NP_689472.3:p.(Asp1460Asn)	NC_000015.9:g.90167919G>A	(Likely) benign	1 lab	a6f23ce36d
10:88853739 GLUD1 C>A	10	88853739	88853739	C	A	GLUD1	c.445+343G>T	NM_005271.5	NP_005262.1:p.?	NC_000010.10:g.88853739C>A	VUS	1 lab	a6f3746bda
12:39730935 KIF21A T>C	12	39730935	39730935	T	C	KIF21A	c.2381A>G	NM_001173464.2	NP_001166935.1:p.(Glu794Gly)	NC_000012.11:g.39730935T>C	VUS	1 lab	a6f5f3171d
7:44191925 GCK G>T	7	44191925	44191925	G	T	GCK	c.308C>A	NM_000162.5	NP_000153.1:p.(Thr103Asn)	NC_000007.13:g.44191925G>T	(Likely) pathogenic	1 lab	a6faafa251
3:13432810 NUP210 A>G	3	13432810	13432810	A	G	NUP210	c.437-3T>C	NM_024923.4	NP_079199.2:p.?	NC_000003.11:g.13432810A>G	VUS	1 lab	a6fd1e2ac2
X:53223371 KDM5C C>T	X	53223371	53223371	C	T	KDM5C	c.3988G>A	NM_004187.5	NP_004178.2:p.(Ala1330Thr)	NC_000023.10:g.53223371C>T	VUS	1 lab	a6fe48c1ba
3:58131687 FLNB G>A	3	58131687	58131687	G	A	FLNB	c.5465G>A	NM_001457.4	NP_001448.2:p.(Gly1822Glu)	NC_000003.11:g.58131687G>A	VUS	1 lab	a6fe9c4d24
X:106186327 MORC4 C>G	X	106186327	106186327	C	G	MORC4	c.1794G>C	NM_024657.5	NP_078933.3:p.(Arg598Ser)	NC_000023.10:g.106186327C>G	(Likely) benign	1 lab	a6ff6a9230
19:15303284 NOTCH3 A>C	19	15303284	15303284	A	C	NOTCH3	c.244T>G	NM_000435.3	NP_000426.2:p.(Cys82Gly)	NC_000019.9:g.15303284A>C	(Likely) pathogenic	1 lab	a70101b62f
10:105215091 CALHM1 C>T	10	105215091	105215091	C	T	CALHM1	c.969G>A	NM_001001412.4	NP_001001412.3:p.(Met323Ile)	NC_000010.10:g.105215091C>T	(Likely) benign	1 lab	a702ac5272
X:83723604 HDX C>T	X	83723604	83723604	C	T	HDX	c.1127G>A	NM_001177479.2	NP_001170950.1:p.(Arg376Gln)	NC_000023.10:g.83723604C>T	(Likely) benign	1 lab	a70301b4fb
X:20043881 MAP7D2 T>G	X	20043881	20043881	T	G	MAP7D2	c.1197A>C	NM_001168465.2	NP_001161937.1:p.(Glu399Asp)	NC_000023.10:g.20043881T>G	(Likely) benign	1 lab	a7036da38a
4:82096035 PRKG2 C>T	4	82096035	82096035	C	T	PRKG2	c.540G>A	NM_006259.3	NP_006250.1:p.(Met180Ile)	NC_000004.11:g.82096035C>T	VUS	1 lab	a7040d36d1
7:73462846 ELN G>GGCA	7	73462846	73462860	G	GGCA	ELN	c.771_773dup	NM_000501.4	NP_000492.2:p.(Ala260dup)	NC_000007.13:g.73462858_73462860dup	VUS	1 lab	a705688a99
19:12769114 MAN2B1 T>C	19	12769114	12769114	T	C	MAN2B1	c.1154A>G	NM_000528.4	NP_000519.2:p.(His385Arg)	NC_000019.9:g.12769114T>C	VUS	1 lab	a705895036
19:46393981 MYPOP C>CG	19	46393981	46393985	C	CG	MYPOP	c.1099dup	NM_001012643.4	NP_001012661.1:p.(Arg367ProfsTer83)	NC_000019.9:g.46393985dup	(Likely) benign	1 lab	a708663556
5:176637034 NSD1 C>T	5	176637034	176637034	C	T	NSD1	c.1634C>T	NM_022455.5	NP_071900.2:p.(Thr545Met)	NC_000005.9:g.176637034C>T	(Likely) benign	1 lab	a70a45f4cd
19:5688153 HSD11B1L G>A	19	5688153	5688153	G	A	HSD11B1L	c.*197G>A	NM_198706.3	NP_941995.1:p.?	NC_000019.9:g.5688153G>A	(Likely) benign	1 lab	a70b734d4d
1:235914581 LYST T>TGAA	1	235914581	235914582	T	TGAA	LYST	c.7708_7709insTTC	NM_000081.4	NP_000072.2:p.(Asn2570delinsIleHis)	NC_000001.10:g.235914581_235914582insGAA	VUS	1 lab	a70bdb8766
17:1174488 BHLHA9 G>T	17	1174488	1174488	G	T	BHLHA9	c.631G>T	NM_001164405.2	NP_001157877.1:p.(Ala211Ser)	NC_000017.10:g.1174488G>T	(Likely) benign	1 lab	a70c3a2788
1:228400312 OBSCN G>T	1	228400312	228400312	G	T	OBSCN	c.828G>T	NM_001386125.1	NP_001373054.1:p.(Gln276His)	NC_000001.10:g.228400312G>T	VUS	1 lab	a70d4b0862
7:11076193 PHF14 A>C	7	11076193	11076193	A	C	PHF14	c.1751A>C	NM_001007157.2	NP_001007158.1:p.(Glu584Ala)	NC_000007.13:g.11076193A>C	VUS	1 lab	a711419122
9:139730233 RABL6 G>A	9	139730233	139730233	G	A	RABL6	c.745G>A	NM_024718.5	NP_078994.3:p.(Asp249Asn)	NC_000009.11:g.139730233G>A	VUS	1 lab	a711a44e42
16:19659152 VPS35L A>T	16	19659152	19659152	A	T	VPS35L	c.1976A>T	NM_020314.7	NP_064710.5:p.(Glu659Val)	NC_000016.9:g.19659152A>T	VUS	1 lab	a712f8221e
7:56007397 ZNF713 T>G	7	56007397	56007397	T	G	ZNF713	c.1030T>G	NM_182633.3	NP_872439.2:p.(Cys344Gly)	NC_000007.13:g.56007397T>G	VUS	1 lab	a713903e4d
5:42695200 GHR C>T	5	42695200	42695200	C	T	GHR	c.439+9C>T	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42695200C>T	(Likely) benign	1 lab	a714cdb09f
1:120465372 NOTCH2 C>T	1	120465372	120465372	C	T	NOTCH2	c.4889G>A	NM_024408.4	NP_077719.2:p.(Arg1630His)	NC_000001.10:g.120465372C>T	VUS	1 lab	a7152e5457
5:137910982 HSPA9 G>A	5	137910982	137910982	G	A	HSPA9	c.26C>T	NM_004134.7	NP_004125.3:p.(Ala9Val)	NC_000005.9:g.137910982G>A	VUS	1 lab	28134c14de
18:28610988 DSC3 C>T	18	28610988	28610988	C	T	DSC3	c.305G>A	NM_024423.4	NP_077741.2:p.(Arg102Lys)	NC_000018.9:g.28610988C>T	(Likely) benign	1 lab	2813c16f46
8:101203629 SPAG1 C>T	8	101203629	101203629	C	T	SPAG1	c.844C>T	NM_003114.5	NP_003105.2:p.(Arg282Cys)	NC_000008.10:g.101203629C>T	VUS	1 lab	a71717fdd8
X:34148880 FAM47A A>G	X	34148880	34148880	A	G	FAM47A	c.1516T>C	NM_203408.4	NP_981953.2:p.(Ser506Pro)	NC_000023.10:g.34148880A>G	VUS	1 lab	a717924879
9:34993269 DNAJB5 G>A	9	34993269	34993269	G	A	DNAJB5	c.255G>A	NM_001349723.3	NP_001336652.1:p.(Ser85=)	NC_000009.11:g.34993269G>A	VUS	1 lab	a71890ad5c
17:45369883 ITGB3 T>G	17	45369883	45369883	T	G	ITGB3	c.1639T>G	NM_000212.3	NP_000203.2:p.(Cys547Gly)	NC_000017.10:g.45369883T>G	(Likely) pathogenic	1 lab	a722ce3c6a
16:30750895 SRCAP TGAG>T	16	30750895	30750906	TGAG	T	SRCAP	c.9543_9545del	NM_006662.3	NP_006653.2:p.(Glu3182del)	NC_000016.9:g.30750904_30750906del	(Likely) benign	1 lab	a71a1c3eba
2:25463287 DNMT3A G>A	2	25463287	25463287	G	A	DNMT3A	c.2206C>T	NM_022552.5	NP_072046.2:p.(Arg736Cys)	NC_000002.11:g.25463287G>A	VUS	1 lab	a71a50bbe7
19:38572546 SIPA1L3 C>A	19	38572546	38572546	C	A	SIPA1L3	c.341C>A	NM_015073.3	NP_055888.1:p.(Ala114Asp)	NC_000019.9:g.38572546C>A	(Likely) benign	1 lab	a71a7de69e
7:2041730 MAD1L1 C>A	7	2041730	2041730	C	A	MAD1L1	c.1386G>T	NM_001013836.2	NP_001013858.1:p.(Glu462Asp)	NC_000007.13:g.2041730C>A	(Likely) benign	1 lab	a71b3212ac
12:110234384 TRPV4 C>T	12	110234384	110234384	C	T	TRPV4	c.1278G>A	NM_021625.4	NP_067638.3:p.(Thr426=)	NC_000012.11:g.110234384C>T	(Likely) benign	1 lab	32f95f8d5d
9:135946724 CEL C>G	9	135946724	135946724	C	G	CEL	c.1835C>G	NM_001807.6	NP_001798.3:p.(Ala612Gly)	NC_000009.11:g.135946724C>G	(Likely) benign	1 lab	a71c0d73f2
1:144857695 PDE4DIP C>T	1	144857695	144857695	C	T	PDE4DIP	c.6557G>A	NM_001395426.1	NP_001382355.1:p.(Gly2186Asp)	NC_000001.10:g.144857695C>T	VUS	1 lab	a71cb54959
19:12758367 MAN2B1 T>A	19	12758367	12758367	T	A	MAN2B1	c.2710A>T	NM_000528.4	NP_000519.2:p.(Thr904Ser)	NC_000019.9:g.12758367T>A	VUS	1 lab	a71dc07f34
14:24728974 TGM1 C>T	14	24728974	24728974	C	T	TGM1	c.920G>A	NM_000359.3	NP_000350.1:p.(Arg307Gln)	NC_000014.8:g.24728974C>T	(Likely) benign	1 lab	a71ff68bcf
X:53222389 KDM5C CCT>C	X	53222389	53222393	CCT	C	KDM5C	c.4441_4442del	NM_004187.5	NP_004178.2:p.(Arg1481GlyfsTer9)	NC_000023.10:g.53222392_53222393del	VUS	1 lab	a71ffc2034
1:236734764 HEATR1 C>T	1	236734764	236734764	C	T	HEATR1	c.3835G>A	NM_018072.6	NP_060542.4:p.(Asp1279Asn)	NC_000001.10:g.236734764C>T	VUS	1 lab	a720f65bdf
2:179416782 TTN G>A	2	179416782	179416782	G	A	TTN	c.64025C>T	NM_133432.3	NP_597676.3:p.(Thr21342Met)	NC_000002.11:g.179416782G>A	VUS	1 lab	3351afeb81
19:1037806 CNN2 G>GAC	19	1037806	1037807	G	GAC	CNN2	c.837_838insAC	NM_004368.4	NP_004359.1:p.(Ala280ThrfsTer61)	NC_000019.9:g.1037806_1037807insAC	VUS	1 lab	a721e5073e
7:107600231 LAMB1 T>C	7	107600231	107600231	T	C	LAMB1	c.2363A>G	NM_002291.3	NP_002282.2:p.(Asn788Ser)	NC_000007.13:g.107600231T>C	VUS	1 lab	a7236feec3
4:1808260 FGFR3 C>A	4	1808260	1808260	C	A	FGFR3	c.2031-13C>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808260C>A	(Likely) benign	1 lab	a7248657c0
1:120612143 NOTCH2 C>T	1	120612143	120612143	C	T	NOTCH2	c.-123G>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612143C>T	VUS	1 lab	a726b89140
20:44685861 SLC12A5 A>G	20	44685861	44685861	A	G	SLC12A5	c.3178A>G	NM_020708.5	NP_065759.1:p.(Ile1060Val)	NC_000020.10:g.44685861A>G	(Likely) benign	1 lab	a7280c2ebb
16:89756991 CDK10 T>G	16	89756991	89756991	T	G	CDK10	c.191T>G	NM_052988.5	NP_443714.3:p.(Ile64Ser)	NC_000016.9:g.89756991T>G	VUS	1 lab	a731fb5690
X:7811809 VCX A>ACTGTGTGGATG	X	7811809	7811810	A	ACTGTGTGGATG	VCX	c.373_374insCTGTGTGGATG	NM_001393662.1	NP_001380591.1:p.(Ser125ThrfsTer14)	NC_000023.10:g.7811809_7811810insCTGTGTGGATG	VUS	1 lab	a729a4fc0f
X:57337115 FAAH2 C>T	X	57337115	57337115	C	T	FAAH2	c.365C>T	NM_174912.4	NP_777572.2:p.(Pro122Leu)	NC_000023.10:g.57337115C>T	VUS	1 lab	a729cbd549
20:10620470 JAG1 G>A	20	10620470	10620470	G	A	JAG1	c.3333C>T	NM_000214.3	NP_000205.1:p.(Thr1111=)	NC_000020.10:g.10620470G>A	(Likely) benign	1 lab	2816237d01
2:55870294 PNPT1 T>G	2	55870294	55870294	T	G	PNPT1	c.2068A>C	NM_033109.5	NP_149100.2:p.(Arg690=)	NC_000002.11:g.55870294T>G	VUS	1 lab	a72baaa752
17:3563976 CTNS C>T	17	3563976	3563976	C	T	CTNS	c.*313C>T	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3563976C>T	VUS	1 lab	a72bc0ec7b
17:8052114 PER1 G>A	17	8052114	8052114	G	A	PER1	c.906-10C>T	NM_002616.3	NP_002607.2:p.?	NC_000017.10:g.8052114G>A	(Likely) benign	1 lab	a72ce726a4
10:71640274 COL13A1 G>A	10	71640274	71640274	G	A	COL13A1	c.478G>A	NM_001368882.1	NP_001355811.1:p.(Ala160Thr)	NC_000010.10:g.71640274G>A	(Likely) benign	1 lab	a72d6cdb8b
2:10183898 KLF11 G>GCTGCCGCGGCGGGA	2	10183898	10183914	G	GCTGCCGCGGCGGGA	KLF11	c.42+16_42+29dup	NM_003597.5	NP_003588.1:p.?	NC_000002.11:g.10183901_10183914dup	VUS	1 lab	a72d6d8ce7
4:56832031 CEP135 G>A	4	56832031	56832031	G	A	CEP135	c.1044+6G>A	NM_025009.5	NP_079285.2:p.?	NC_000004.11:g.56832031G>A	(Likely) benign	1 lab	a72da75c22
16:1570590 IFT140 G>A	16	1570590	1570590	G	A	IFT140	c.3660+13C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1570590G>A	(Likely) benign	1 lab	a72e1a6e65
10:73115951 SLC29A3 G>A	10	73115951	73115951	G	A	SLC29A3	c.724G>A	NM_018344.6	NP_060814.4:p.(Val242Met)	NC_000010.10:g.73115951G>A	(Likely) benign	1 lab	a72fdddbc3
X:3030576 ARSF G>GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTTT	X	3030576	3030664	G	GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTTT	ARSF	c.*18_*67dup	NM_001201539.2	NP_001188468.1:p.?	NC_000023.10:g.3030615_3030664dup	(Likely) benign	1 lab	a7315182c8
16:75662521 KARS1 C>T	16	75662521	75662521	C	T	KARS1	c.1641G>A	NM_005548.3	NP_005539.1:p.(Trp547Ter)	NC_000016.9:g.75662521C>T	(Likely) benign	1 lab	a732598dac
3:10413525 ATP2B2 C>T	3	10413525	10413525	C	T	ATP2B2	c.1627G>A	NM_001001331.4	NP_001001331.1:p.(Ala543Thr)	NC_000003.11:g.10413525C>T	(Likely) benign	1 lab	a73317bbb7
16:76523711 CNTNAP4 A>C	16	76523711	76523711	A	C	CNTNAP4	c.2011A>C	NM_033401.5	NP_207837.2:p.(Asn671His)	NC_000016.9:g.76523711A>C	VUS	1 lab	a73801450f
11:124747837 ROBO3 G>A	11	124747837	124747837	G	A	ROBO3	c.2991G>A	NM_022370.4	NP_071765.2:p.(Ala997=)	NC_000011.9:g.124747837G>A	(Likely) benign	1 lab	281d8ce578
X:152719969 HAUS7 GGGGAGGGAGGGAGGGA>G	X	152719969	152720006	GGGGAGGGAGGGAGGGA	G	HAUS7	c.931-19_931-4del	NM_001385482.1	NP_001372411.1:p.?	NC_000023.10:g.152719991_152720006del	(Likely) benign	1 lab	a739462bf1
17:43530814 PLEKHM1 T>G	17	43530814	43530814	T	G	PLEKHM1	c.2404A>C	NM_014798.3	NP_055613.1:p.(Lys802Gln)	NC_000017.10:g.43530814T>G	(Likely) benign	1 lab	a73a94f841
12:15038703 MGP G>A	12	15038703	15038703	G	A	MGP	c.23C>T	NM_000900.5	NP_000891.2:p.(Ala8Val)	NC_000012.11:g.15038703G>A	(Likely) benign	1 lab	a73a990460
15:91461584 MAN2A2 TC>T	15	91461584	91461586	TC	T	MAN2A2	c.3157del	NM_006122.4	NP_006113.2:p.(His1053ThrfsTer49)	NC_000015.9:g.91461586del	VUS	1 lab	a73adf1df3
4:89345077 HERC6 A>C	4	89345077	89345077	A	C	HERC6	c.1779A>C	NM_017912.4	NP_060382.3:p.(Leu593Phe)	NC_000004.11:g.89345077A>C	VUS	1 lab	a73bea9919
7:91652176 AKAP9 C>G	7	91652176	91652176	C	G	AKAP9	c.4001C>G	NM_005751.4	NP_005742.4:p.(Thr1334Ser)	NC_000007.13:g.91652176C>G	(Likely) benign	1 lab	2978e7bcd6
17:39978578 FKBP10 G>A	17	39978578	39978578	G	A	FKBP10	c.1667G>A	NM_021939.4	NP_068758.3:p.(Arg556His)	NC_000017.10:g.39978578G>A	(Likely) benign	1 lab	a73c4041b8
20:44639953 MMP9 AGAGT>A	20	44639953	44639964	AGAGT	A	MMP9	c.823+6_823+9del	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44639961_44639964del	VUS	1 lab	a73c4fb603
5:112090652 APC A>G	5	112090652	112090652	A	G	APC	c.65A>G	NM_000038.6	NP_000029.2:p.(Asn22Ser)	NC_000005.9:g.112090652A>G	VUS	1 lab	a73c7411e6
3:41266438 CTNNB1 T>G	3	41266438	41266438	T	G	CTNNB1	c.242-7T>G	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41266438T>G	(Likely) benign	1 lab	a73cd201c8
10:129913267 MKI67 T>A	10	129913267	129913267	T	A	MKI67	c.1405A>T	NM_002417.5	NP_002408.3:p.(Thr469Ser)	NC_000010.10:g.129913267T>A	VUS	1 lab	a73e09345d
X:2774538 GYG2 G>A	X	2774538	2774538	G	A	GYG2	c.488-1G>A	NM_001079855.2	NP_001073324.1:p.?	NC_000023.10:g.2774538G>A	VUS	1 lab	a7403f496c
17:36485918 GPR179 GTCT>G	17	36485918	36485925	GTCT	G	GPR179	c.3531_3533del	NM_001004334.4	NP_001004334.3:p.(Glu1177del)	NC_000017.10:g.36485923_36485925del	VUS	1 lab	a740a00a6d
18:19020268 GREB1L C>G	18	19020268	19020268	C	G	GREB1L	c.988C>G	NM_001142966.3	NP_001136438.1:p.(Arg330Gly)	NC_000018.9:g.19020268C>G	VUS	1 lab	a740d8cfba
2:97858622 ANKRD36 C>A	2	97858622	97858622	C	A	ANKRD36	c.2375C>A	NM_001354587.1	NP_001341516.1:p.(Thr792Lys)	NC_000002.11:g.97858622C>A	VUS	1 lab	a740e45de6
9:35806079 NPR2 C>T	9	35806079	35806079	C	T	NPR2	c.2221C>T	NM_003995.4	NP_003986.2:p.(Arg741Ter)	NC_000009.11:g.35806079C>T	(Likely) pathogenic	1 lab	a7423e5993
17:29664384 NF1 A>G	17	29664384	29664384	A	G	NF1	c.6428-2A>G	NM_001042492.2	NP_001035957.1:p.?	NC_000017.10:g.29664384A>G	(Likely) pathogenic	1 lab	2979a5ed82
14:23902000 MYH7 T>A	14	23902000	23902000	T	A	MYH7	c.350A>T	NM_000257.4	NP_000248.2:p.(Tyr117Phe)	NC_000014.8:g.23902000T>A	VUS	1 lab	a7434e8a81
9:12695725 TYRP1 C>G	9	12695725	12695725	C	G	TYRP1	c.596C>G	NM_000550.3	NP_000541.1:p.(Thr199Ser)	NC_000009.11:g.12695725C>G	VUS	1 lab	a7438a8215
15:63988477 HERC1 C>T	15	63988477	63988477	C	T	HERC1	c.4967G>A	NM_003922.4	NP_003913.3:p.(Ser1656Asn)	NC_000015.9:g.63988477C>T	VUS	1 lab	a7440531e5
3:173997020 NLGN1 A>AT	3	173997020	173997024	A	AT	NLGN1	c.1293dup	NM_001365925.2	NP_001352854.1:p.(Asp432Ter)	NC_000003.11:g.173997024dup	VUS	1 lab	a745def7e5
19:1468666 APC2 G>A	19	1468666	1468666	G	A	APC2	c.5366G>A	NM_005883.3	NP_005874.1:p.(Arg1789Gln)	NC_000019.9:g.1468666G>A	(Likely) benign	1 lab	a74620ca1e
2:220364857 GMPPA C>T	2	220364857	220364857	C	T	GMPPA	c.55C>T	NM_013335.4	NP_037467.2:p.(Pro19Ser)	NC_000002.11:g.220364857C>T	VUS	1 lab	a746a60df0
9:6254512 IL33 G>C	9	6254512	6254512	G	C	IL33	c.571G>C	NM_033439.4	NP_254274.1:p.(Asp191His)	NC_000009.11:g.6254512G>C	VUS	1 lab	a747df015a
4:15589471 CC2D2A A>C	4	15589471	15589471	A	C	CC2D2A	c.4098A>C	NM_001378615.1	NP_001365544.1:p.(Glu1366Asp)	NC_000004.11:g.15589471A>C	VUS	1 lab	a748c761f2
16:1256151 CACNA1H G>A	16	1256151	1256151	G	A	CACNA1H	c.2651G>A	NM_021098.3	NP_066921.2:p.(Arg884His)	NC_000016.9:g.1256151G>A	VUS	1 lab	a74994c057
4:155158065 DCHS2 C>T	4	155158065	155158065	C	T	DCHS2	c.7739G>A	NM_001358235.2	NP_001345164.1:p.(Arg2580His)	NC_000004.11:g.155158065C>T	(Likely) benign	1 lab	a749a456b2
5:140802463 PCDHGB4 AACG>A	5	140802463	140802468	AACG	A	PCDHGB4	c.2397+32618_2397+32620del	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140802466_140802468del	VUS	1 lab	a749c1e0ca
16:11815533 TXNDC11 G>C	16	11815533	11815533	G	C	TXNDC11	c.700-7C>G	NM_015914.7	NP_056998.4:p.?	NC_000016.9:g.11815533G>C	(Likely) benign	1 lab	a74ab5a7a8
15:41221894 DLL4 G>C	15	41221894	41221894	G	C	DLL4	c.28G>C	NM_019074.4	NP_061947.1:p.(Gly10Arg)	NC_000015.9:g.41221894G>C	(Likely) benign	1 lab	a74acb70d3
2:100176876 AFF3 G>A	2	100176876	100176876	G	A	AFF3	c.3142C>T	NM_001386135.1	NP_001373064.1:p.(His1048Tyr)	NC_000002.11:g.100176876G>A	(Likely) benign	1 lab	a74afa1ef1
2:220422610 OBSL1 AG>A	2	220422610	220422611	AG	A	OBSL1	c.3724del	NM_015311.3	NP_056126.1:p.(Leu1242SerfsTer29)	NC_000002.11:g.220422611del	(Likely) pathogenic	1 lab	a74b891d3b
5:37064983 NIPBL A>G	5	37064983	37064983	A	G	NIPBL	c.8404A>G	NM_133433.4	NP_597677.2:p.(Thr2802Ala)	NC_000005.9:g.37064983A>G	VUS	1 lab	d944f1efe0
19:17679366 COLGALT1 C>T	19	17679366	17679366	C	T	COLGALT1	c.673C>T	NM_024656.4	NP_078932.2:p.(Arg225Cys)	NC_000019.9:g.17679366C>T	VUS	1 lab	a74cacc43e
2:197657753 GTF3C3 G>C	2	197657753	197657753	G	C	GTF3C3	c.338C>G	NM_012086.5	NP_036218.1:p.(Pro113Arg)	NC_000002.11:g.197657753G>C	(Likely) benign	1 lab	a74cfddfe8
19:35622449 LGI4 C>T	19	35622449	35622449	C	T	LGI4	c.469G>A	NM_139284.3	NP_644813.1:p.(Gly157Arg)	NC_000019.9:g.35622449C>T	VUS	1 lab	a74d118282
3:9027606 SRGAP3 T>C	3	9027606	9027606	T	C	SRGAP3	c.2897A>G	NM_014850.4	NP_055665.1:p.(Lys966Arg)	NC_000003.11:g.9027606T>C	VUS	1 lab	a74f8d7212
12:50746630 FAM186A G>T	12	50746630	50746630	G	T	FAM186A	c.3985C>A	NM_001145475.3	NP_001138947.1:p.(Pro1329Thr)	NC_000012.11:g.50746630G>T	VUS	1 lab	a74fa19eb8
21:47423712 COL6A1 G>C	21	47423712	47423712	G	C	COL6A1	c.2872G>C	NM_001848.3	NP_001839.2:p.(Ala958Pro)	NC_000021.8:g.47423712G>C	VUS	1 lab	a7501c2e5c
6:29644669 ZFP57 G>A	6	29644669	29644669	G	A	ZFP57	c.112C>T	NM_001109809.5	NP_001103279.2:p.(Arg38Trp)	NC_000006.11:g.29644669G>A	(Likely) benign	1 lab	a751cf1f61
11:12183773 MICAL2 C>T	11	12183773	12183773	C	T	MICAL2	c.71C>T	NM_001282663.2	NP_001269592.1:p.(Thr24Met)	NC_000011.9:g.12183773C>T	VUS	1 lab	a751dbda1a
12:58159173 CYP27B1 C>G	12	58159173	58159173	C	G	CYP27B1	c.496G>C	NM_000785.4	NP_000776.1:p.(Val166Leu)	NC_000012.11:g.58159173C>G	(Likely) benign	1 lab	a7538bfc47
20:60895621 LAMA5 G>A	20	60895621	60895621	G	A	LAMA5	c.6753C>T	NM_005560.6	NP_005551.3:p.(Gly2251=)	NC_000020.10:g.60895621G>A	VUS	1 lab	a7554633b8
16:69362974 COG8 A>G	16	69362974	69362974	A	G	COG8	c.*135T>C	NM_032382.5	NP_115758.3:p.?	NC_000016.9:g.69362974A>G	VUS	1 lab	d9459b3da8
10:96084244 PLCE1 G>A	10	96084244	96084244	G	A	PLCE1	c.6640G>A	NM_016341.4	NP_057425.3:p.(Asp2214Asn)	NC_000010.10:g.96084244G>A	VUS	1 lab	a756503064
19:7150512 INSR G>A	19	7150512	7150512	G	A	INSR	c.2263C>T	NM_000208.4	NP_000199.2:p.(Pro755Ser)	NC_000019.9:g.7150512G>A	(Likely) benign	1 lab	a75654686f
16:88800909 PIEZO1 C>T	16	88800909	88800909	C	T	PIEZO1	c.2035G>A	NM_001142864.4	NP_001136336.2:p.(Glu679Lys)	NC_000016.9:g.88800909C>T	(Likely) pathogenic	1 lab	a756d95ff7
8:145737458 RECQL4 G>A	8	145737458	145737458	G	A	RECQL4	c.3237-8C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737458G>A	VUS	1 lab	a756da93ab
3:112711981 GTPBP8 A>G	3	112711981	112711981	A	G	GTPBP8	c.435+10A>G	NM_014170.4	NP_054889.2:p.?	NC_000003.11:g.112711981A>G	(Likely) benign	1 lab	a75775f293
18:19780607 GATA6 C>G	18	19780607	19780607	C	G	GATA6	c.1621-12C>G	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19780607C>G	(Likely) benign	1 lab	a757ffd409
16:30976744 SETD1A G>C	16	30976744	30976744	G	C	SETD1A	c.1681G>C	NM_014712.3	NP_055527.1:p.(Ala561Pro)	NC_000016.9:g.30976744G>C	(Likely) benign	1 lab	a7582b747d
22:35719821 TOM1 C>T	22	35719821	35719821	C	T	TOM1	c.562C>T	NM_005488.3	NP_005479.1:p.(Gln188Ter)	NC_000022.10:g.35719821C>T	VUS	1 lab	a7584ee455
19:42777332 CIC C>T	19	42777332	42777332	C	T	CIC	c.1397C>T	NM_001386298.1	NP_001373227.1:p.(Pro466Leu)	NC_000019.9:g.42777332C>T	VUS	1 lab	a7597e7073
4:103826666 SLC9B1 C>T	4	103826666	103826666	C	T	SLC9B1	c.1332+5G>A	NM_139173.4	NP_631912.3:p.?	NC_000004.11:g.103826666C>T	(Likely) benign	1 lab	a75c64ec3e
10:50736565 ERCC6 G>A	10	50736565	50736565	G	A	ERCC6	c.550C>T	NM_000124.4	NP_000115.1:p.(Gln184Ter)	NC_000010.10:g.50736565G>A	(Likely) pathogenic	1 lab	a75ca98159
X:71684475 HDAC8 C>A	X	71684475	71684475	C	A	HDAC8	c.844G>T	NM_018486.3	NP_060956.1:p.(Val282Leu)	NC_000023.10:g.71684475C>A	VUS	1 lab	a75db49e20
12:305355 SLC6A12 G>A	12	305355	305355	G	A	SLC6A12	c.1261C>T	NM_001122848.3	NP_001116320.1:p.(Arg421Cys)	NC_000012.11:g.305355G>A	VUS	1 lab	a75e33c50c
4:6302656 WFS1 C>G	4	6302656	6302656	C	G	WFS1	c.1134C>G	NM_006005.3	NP_005996.2:p.(Thr378=)	NC_000004.11:g.6302656C>G	(Likely) benign	1 lab	a75f3edfc1
17:78307917 RNF213 G>A	17	78307917	78307917	G	A	RNF213	c.4156G>A	NM_001256071.3	NP_001243000.2:p.(Asp1386Asn)	NC_000017.10:g.78307917G>A	(Likely) benign	1 lab	a75f504b02
10:133967278 JAKMIP3 G>A	10	133967278	133967278	G	A	JAKMIP3	c.2089G>A	NM_001323087.2	NP_001310016.1:p.(Glu697Lys)	NC_000010.10:g.133967278G>A	(Likely) benign	1 lab	a7601682f0
4:15534832 CC2D2A C>T	4	15534832	15534832	C	T	CC2D2A	c.1483C>T	NM_001080522.2	NP_001073991.2:p.(Arg495Cys)	NC_000004.11:g.15534832C>T	VUS	1 lab	d94a147f59
17:7404436 POLR2A G>A	17	7404436	7404436	G	A	POLR2A	c.2050+9G>A	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7404436G>A	(Likely) benign	1 lab	a761584f60
2:73678730 ALMS1 AC>A	2	73678730	73678732	AC	A	ALMS1	c.5078del	NM_001378454.1	NP_001365383.1:p.(Pro1693LeufsTer39)	NC_000002.11:g.73678732del	(Likely) pathogenic	1 lab	a7617bc3d2
X:19380975 MAP3K15 TAA>T	X	19380975	19380992	TAA	T	MAP3K15	c.3567-9_3567-8del	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19380991_19380992del	VUS	1 lab	a761a3de60
2:20850822 HS1BP3 A>C	2	20850822	20850822	A	C	HS1BP3	c.2T>G	NM_022460.4	NP_071905.3:p.(Met1?)	NC_000002.11:g.20850822A>C	(Likely) benign	1 lab	a761bae526
2:152402515 NEB T>TAAAA	2	152402515	152402532	T	TAAAA	NEB	c.20467-7_20467-4dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152402529_152402532dup	(Likely) benign	1 lab	a7651b9cb8
15:102304089 MISSING G>C	15	102304089	102304089	G	C	MISSING				NC_000015.9:g.102304089G>C	(Likely) benign	1 lab	bf27a43fd4
17:59761411 BRIP1 CTCTT>C	17	59761411	59761416	CTCTT	C	BRIP1	c.2992_2995del	NM_032043.3	NP_114432.2:p.(Lys998GlufsTer60)	NC_000017.10:g.59761413_59761416del	VUS	1 lab	a76679a3da
2:15618406 NBAS T>C	2	15618406	15618406	T	C	NBAS	c.1091A>G	NM_015909.4	NP_056993.2:p.(Tyr364Cys)	NC_000002.11:g.15618406T>C	VUS	1 lab	a842dab08d
11:70666485 SHANK2 G>C	11	70666485	70666485	G	C	SHANK2	c.1477C>G	NM_012309.5	NP_036441.2:p.(Pro493Ala)	NC_000011.9:g.70666485G>C	(Likely) benign	1 lab	a766cbd14f
7:31009483 GHRHR G>A	7	31009483	31009483	G	A	GHRHR	c.270G>A	NM_000823.4	NP_000814.2:p.(Gly90=)	NC_000007.13:g.31009483G>A	(Likely) benign	1 lab	a7672481ba
14:23883043 MYH7 CT>C	14	23883043	23883044	CT	C	MYH7	c.5714del	NM_000257.4	NP_000248.2:p.(Glu1905GlyfsTer28)	NC_000014.8:g.23883044del	VUS	1 lab	297a07a64b
16:30980713 SETD1A G>A	16	30980713	30980713	G	A	SETD1A	c.2858G>A	NM_014712.3	NP_055527.1:p.(Gly953Asp)	NC_000016.9:g.30980713G>A	VUS	1 lab	a7696b641b
X:48325263 SLC38A5 C>T	X	48325263	48325263	C	T	SLC38A5	c.246-4G>A	NM_033518.4	NP_277053.2:p.?	NC_000023.10:g.48325263C>T	(Likely) benign	1 lab	a76a2dcebd
16:67197407 FBXL8 T>C	16	67197407	67197407	T	C	FBXL8	c.809T>C	NM_018378.3	NP_060848.2:p.(Val270Ala)	NC_000016.9:g.67197407T>C	(Likely) benign	1 lab	a76c1eb819
3:48683218 CELSR3 C>T	3	48683218	48683218	C	T	CELSR3	c.7547G>A	NM_001407.3	NP_001398.2:p.(Arg2516Gln)	NC_000003.11:g.48683218C>T	VUS	1 lab	a76d617b8c
18:60029032 TNFRSF11A G>C	18	60029032	60029032	G	C	TNFRSF11A	c.730+6G>C	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.60029032G>C	(Likely) benign	1 lab	a76f339c69
15:40505615 BUB1B T>C	15	40505615	40505615	T	C	BUB1B	c.2618T>C	NM_001211.6	NP_001202.5:p.(Leu873Pro)	NC_000015.9:g.40505615T>C	VUS	1 lab	a76f654cbc
3:133169282 BFSP2 G>A	3	133169282	133169282	G	A	BFSP2	c.865G>A	NM_003571.4	NP_003562.1:p.(Glu289Lys)	NC_000003.11:g.133169282G>A	VUS	1 lab	a770179bc7
7:98479655 TRRAP C>T	7	98479655	98479655	C	T	TRRAP	c.150+8C>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98479655C>T	(Likely) benign	1 lab	a7708c5d82
16:1551424 TELO2 G>A	16	1551424	1551424	G	A	TELO2	c.1285G>A	NM_016111.4	NP_057195.2:p.(Glu429Lys)	NC_000016.9:g.1551424G>A	VUS	1 lab	a77157061a
X:13764463 OFD1 T>A	X	13764463	13764463	T	A	OFD1	c.543T>A	NM_003611.3	NP_003602.1:p.(Asp181Glu)	NC_000023.10:g.13764463T>A	(Likely) benign	1 lab	a7740c4711
2:71788922 DYSF C>A	2	71788922	71788922	C	A	DYSF	c.2257C>A	NM_001130987.2	NP_001124459.1:p.(His753Asn)	NC_000002.11:g.71788922C>A	VUS	1 lab	a77434a2be
2:239056631 KLHL30 C>T	2	239056631	239056631	C	T	KLHL30	c.1307C>T	NM_198582.4	NP_940984.3:p.(Ala436Val)	NC_000002.11:g.239056631C>T	VUS	1 lab	a7772cbb93
22:17662396 ADA2 T>A	22	17662396	17662396	T	A	ADA2	c.1513A>T	NM_001282225.2	NP_001269154.1:p.(Ile505Leu)	NC_000022.10:g.17662396T>A	(Likely) benign	1 lab	a77995103e
X:47445978 TIMP1 C>T	X	47445978	47445978	C	T	TIMP1	c.512C>T	NM_003254.3	NP_003245.1:p.(Thr171Met)	NC_000023.10:g.47445978C>T	(Likely) benign	1 lab	a77cb23463
10:72617363 SGPL1 C>T	10	72617363	72617363	C	T	SGPL1	c.410-8C>T	NM_003901.4	NP_003892.2:p.?	NC_000010.10:g.72617363C>T	VUS	1 lab	a77d4272d1
8:38285869 FGFR1 C>T	8	38285869	38285869	C	T	FGFR1	c.443G>A	NM_023110.3	NP_075598.2:p.(Arg148His)	NC_000008.10:g.38285869C>T	VUS	1 lab	a77d488789
1:110134877 GNAI3 G>A	1	110134877	110134877	G	A	GNAI3	c.*22G>A	NM_006496.4	NP_006487.1:p.?	NC_000001.10:g.110134877G>A	(Likely) benign	1 lab	a77e200955
9:134398374 POMT1 G>A	9	134398374	134398374	G	A	POMT1	c.2059G>A	NM_001077365.2	NP_001070833.1:p.(Ala687Thr)	NC_000009.11:g.134398374G>A	VUS	1 lab	a781d197cb
X:18622288 CDKL5 CAG>C	X	18622288	18622292	CAG	C	CDKL5	c.1247_1248del	NM_001323289.2	NP_001310218.1:p.(Glu416ValfsTer2)	NC_000023.10:g.18622291_18622292del	VUS	1 lab	a78275debb
5:140250309 PCDHA1 G>T	5	140250309	140250309	G	T	PCDHA1	c.2394+82040G>T	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140250309G>T	VUS	1 lab	a782d9c671
12:124206960 ATP6V0A2 C>T	12	124206960	124206960	C	T	ATP6V0A2	c.259C>T	NM_012463.4	NP_036595.2:p.(Pro87Ser)	NC_000012.11:g.124206960C>T	VUS	1 lab	a78685f117
8:41582031 ANK1 G>T	8	41582031	41582031	G	T	ANK1	c.654C>A	NM_000037.4	NP_000028.3:p.(Asn218Lys)	NC_000008.10:g.41582031G>T	(Likely) benign	1 lab	298adda1ae
5:161322664 GABRA1 C>T	5	161322664	161322664	C	T	GABRA1	c.857-8C>T	NM_001127644.2	NP_001121116.1:p.?	NC_000005.9:g.161322664C>T	(Likely) benign	1 lab	a787cba324
5:136476339 SPOCK1 G>A	5	136476339	136476339	G	A	SPOCK1	c.277C>T	NM_004598.4	NP_004589.1:p.(Pro93Ser)	NC_000005.9:g.136476339G>A	VUS	1 lab	a788a46322
6:13053621 PHACTR1 C>T	6	13053621	13053621	C	T	PHACTR1	c.275C>T	NM_030948.6	NP_112210.1:p.(Ala92Val)	NC_000006.11:g.13053621C>T	VUS	1 lab	a788f64fac
12:103246707 PAH C>T	12	103246707	103246707	C	T	PAH	c.728G>A	NM_000277.3	NP_000268.1:p.(Arg243Gln)	NC_000012.11:g.103246707C>T	(Likely) pathogenic	1 lab	298c49e4e4
3:179292210 ACTL6A A>G	3	179292210	179292210	A	G	ACTL6A	c.431A>G	NM_004301.5	NP_004292.1:p.(Tyr144Cys)	NC_000003.11:g.179292210A>G	VUS	1 lab	a78b28f05c
X:55033290 APEX2 C>T	X	55033290	55033290	C	T	APEX2	c.979C>T	NM_014481.4	NP_055296.2:p.(Arg327Cys)	NC_000023.10:g.55033290C>T	(Likely) benign	1 lab	a79716bddc
X:154158295 F8 CCTT>C	X	154158295	154158300	CCTT	C	F8	c.3767_3769del	NM_000132.4	NP_000123.1:p.(Glu1256del)	NC_000023.10:g.154158298_154158300del	VUS	1 lab	a78bd9cc19
2:73786094 ALMS1 C>G	2	73786094	73786094	C	G	ALMS1	c.10214-5C>G	NM_001378454.1	NP_001365383.1:p.?	NC_000002.11:g.73786094C>G	(Likely) benign	1 lab	a78bfeb6cc
6:73902368 KCNQ5 C>T	6	73902368	73902368	C	T	KCNQ5	c.1790C>T	NM_019842.4	NP_062816.2:p.(Thr597Ile)	NC_000006.11:g.73902368C>T	VUS	1 lab	a78cdfc3db
22:32156586 DEPDC5 T>A	22	32156586	32156586	T	A	DEPDC5	c.147-56T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32156586T>A	(Likely) benign	1 lab	298c85f6bd
7:74239513 GTF2IRD2 C>T	7	74239513	74239513	C	T	GTF2IRD2	c.307G>A	NM_173537.5	NP_775808.4:p.(Glu103Lys)	NC_000007.13:g.74239513C>T	VUS	1 lab	a78e054bc1
2:166011014 SCN3A G>A	2	166011014	166011014	G	A	SCN3A	c.1328C>T	NM_006922.4	NP_008853.3:p.(Ala443Val)	NC_000002.11:g.166011014G>A	VUS	1 lab	a78e6ebaa0
8:94807662 TMEM67 A>G	8	94807662	94807662	A	G	TMEM67	c.1700A>G	NM_153704.6	NP_714915.3:p.(Tyr567Cys)	NC_000008.10:g.94807662A>G	VUS	1 lab	a78f95745f
3:142242840 ATR A>T	3	142242840	142242840	A	T	ATR	c.4147T>A	NM_001184.4	NP_001175.2:p.(Phe1383Ile)	NC_000003.11:g.142242840A>T	VUS	1 lab	a79043a803
20:21686534 PAX1 C>CGCG	20	21686534	21686549	C	CGCG	PAX1	c.197_199dup	NM_001257096.2	NP_001244025.1:p.(Gly66dup)	NC_000020.10:g.21686547_21686549dup	VUS	1 lab	a793a7ef74
18:14543015 POTEC C>A	18	14543015	14543015	C	A	POTEC	c.131G>T	NM_001137671.2	NP_001131143.1:p.(Gly44Val)	NC_000018.9:g.14543015C>A	VUS	1 lab	a7940cc7ee
2:233744248 NGEF C>A	2	233744248	233744248	C	A	NGEF	c.2084G>T	NM_019850.3	NP_062824.2:p.(Arg695Leu)	NC_000002.11:g.233744248C>A	VUS	1 lab	a79512fd69
3:132420314 NPHP3 C>T	3	132420314	132420314	C	T	NPHP3	c.1588G>A	NM_153240.5	NP_694972.3:p.(Gly530Arg)	NC_000003.11:g.132420314C>T	VUS	1 lab	a796048097
17:73824885 UNC13D G>A	17	73824885	73824885	G	A	UNC13D	c.3134C>T	NM_199242.3	NP_954712.1:p.(Thr1045Met)	NC_000017.10:g.73824885G>A	(Likely) benign	1 lab	a7963fcc06
X:119211113 RHOXF2B C>T	X	119211113	119211113	C	T	RHOXF2B	c.220G>A	NM_001099685.3	NP_001093155.1:p.(Gly74Ser)	NC_000023.10:g.119211113C>T	VUS	1 lab	a797950c23
15:28947208 GOLGA8M C>G	15	28947208	28947208	C	G	GOLGA8M	c.1791G>C	NM_001282468.3	NP_001269397.1:p.(Lys597Asn)	NC_000015.9:g.28947208C>G	(Likely) benign	1 lab	a797f82d24
12:102811753 IGF1 G>A	12	102811753	102811753	G	A	IGF1	c.402+1534C>T	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102811753G>A	(Likely) benign	1 lab	a798176572
16:1568341 IFT140 G>C	16	1568341	1568341	G	C	IFT140	c.4058C>G	NM_014714.4	NP_055529.2:p.(Pro1353Arg)	NC_000016.9:g.1568341G>C	VUS	1 lab	a79835309d
15:69709843 KIF23 A>G	15	69709843	69709843	A	G	KIF23	c.203A>G	NM_001367805.3	NP_001354734.1:p.(Tyr68Cys)	NC_000015.9:g.69709843A>G	VUS	1 lab	a798947ebe
16:320614 RGS11 G>A	16	320614	320614	G	A	RGS11	c.1114C>T	NM_183337.3	NP_899180.1:p.(Arg372Trp)	NC_000016.9:g.320614G>A	VUS	1 lab	a79982c89e
14:92403509 FBLN5 C>T	14	92403509	92403509	C	T	FBLN5	c.161G>A	NM_006329.4	NP_006320.2:p.(Arg54Gln)	NC_000014.8:g.92403509C>T	VUS	1 lab	a799cb36e1
2:112588975 ANAPC1 G>A	2	112588975	112588975	G	A	ANAPC1	c.2513C>T	NM_022662.4	NP_073153.1:p.(Thr838Met)	NC_000002.11:g.112588975G>A	(Likely) benign	1 lab	a79a02df9e
19:11170786 SMARCA4 G>A	19	11170786	11170786	G	A	SMARCA4	c.4834G>A	NM_003072.5	NP_003063.2:p.(Gly1612Ser)	NC_000019.9:g.11170786G>A	(Likely) benign	1 lab	a79a16a117
2:100199423 AFF3 C>T	2	100199423	100199423	C	T	AFF3	c.2630G>A	NM_001386135.1	NP_001373064.1:p.(Arg877Gln)	NC_000002.11:g.100199423C>T	(Likely) benign	1 lab	a79ab3861a
9:117853182 TNC G>A	9	117853182	117853182	G	A	TNC	c.116C>T	NM_002160.4	NP_002151.2:p.(Ala39Val)	NC_000009.11:g.117853182G>A	(Likely) benign	1 lab	a79adad1bc
10:89692977 PTEN T>C	10	89692977	89692977	T	C	PTEN	c.461T>C	NM_000314.8	NP_000305.3:p.(Phe154Ser)	NC_000010.10:g.89692977T>C	(Likely) pathogenic	1 lab	28246888b7
17:61561341 ACE T>G	17	61561341	61561341	T	G	ACE	c.1709+9T>G	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61561341T>G	VUS	1 lab	a79c52ed9d
12:14774148 GUCY2C C>T	12	14774148	14774148	C	T	GUCY2C	c.2604G>A	NM_004963.4	NP_004954.2:p.(Val868=)	NC_000012.11:g.14774148C>T	(Likely) benign	1 lab	a79ce98093
7:143096419 EPHA1 G>A	7	143096419	143096419	G	A	EPHA1	c.923C>T	NM_005232.5	NP_005223.4:p.(Ala308Val)	NC_000007.13:g.143096419G>A	(Likely) benign	1 lab	a79d1e6d84
7:66103329 KCTD7 G>A	7	66103329	66103329	G	A	KCTD7	c.404G>A	NM_153033.5	NP_694578.1:p.(Gly135Glu)	NC_000007.13:g.66103329G>A	VUS	1 lab	a79e3a3ecf
17:7750065 KDM6B G>A	17	7750065	7750065	G	A	KDM6B	c.711+7G>A	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7750065G>A	(Likely) benign	1 lab	a79e9ea90d
3:129325028 PLXND1 C>A	3	129325028	129325028	C	A	PLXND1	c.455G>T	NM_015103.3	NP_055918.3:p.(Arg152Leu)	NC_000003.11:g.129325028C>A	VUS	1 lab	a79f25a205
16:88874597 CDT1 G>A	16	88874597	88874597	G	A	CDT1	c.1552G>A	NM_030928.4	NP_112190.2:p.(Asp518Asn)	NC_000016.9:g.88874597G>A	VUS	1 lab	a7a0b80991
16:1257357 CACNA1H C>T	16	1257357	1257357	C	T	CACNA1H	c.2990C>T	NM_021098.3	NP_066921.2:p.(Ala997Val)	NC_000016.9:g.1257357C>T	VUS	1 lab	a7a13654ca
17:7752286 KDM6B A>T	17	7752286	7752286	A	T	KDM6B	c.2680A>T	NM_001348716.2	NP_001335645.1:p.(Thr894Ser)	NC_000017.10:g.7752286A>T	(Likely) benign	1 lab	a7a19f5699
3:182735057 MCCC1 C>G	3	182735057	182735057	C	G	MCCC1	c.2046G>C	NM_020166.5	NP_064551.3:p.(Met682Ile)	NC_000003.11:g.182735057C>G	VUS	1 lab	a7a2229276
18:33744462 ELP2 A>C	18	33744462	33744462	A	C	ELP2	c.1786A>C	NM_018255.4	NP_060725.1:p.(Ile596Leu)	NC_000018.9:g.33744462A>C	VUS	1 lab	a7a297b027
11:60668352 PRPF19 G>A	11	60668352	60668352	G	A	PRPF19	c.692C>T	NM_014502.5	NP_055317.1:p.(Pro231Leu)	NC_000011.9:g.60668352G>A	VUS	1 lab	a7a3342a01
12:14018800 GRIN2B T>A	12	14018800	14018800	T	A	GRIN2B	c.343A>T	NM_000834.5	NP_000825.2:p.(Ile115Phe)	NC_000012.11:g.14018800T>A	(Likely) benign	1 lab	a7a46383f2
17:42991397 GFAP T>A	17	42991397	42991397	T	A	GFAP	c.521A>T	NM_002055.5	NP_002046.1:p.(Gln174Leu)	NC_000017.10:g.42991397T>A	VUS	1 lab	a7a531b860
2:27682364 IFT172 C>T	2	27682364	27682364	C	T	IFT172	c.2668G>A	NM_015662.3	NP_056477.1:p.(Ala890Thr)	NC_000002.11:g.27682364C>T	VUS	1 lab	a7a5a45cab
9:139393381 NOTCH1 G>A	9	139393381	139393381	G	A	NOTCH1	c.6150C>T	NM_017617.5	NP_060087.3:p.(Asn2050=)	NC_000009.11:g.139393381G>A	(Likely) benign	1 lab	a7a63af85e
2:27522165 TRIM54 G>T	2	27522165	27522165	G	T	TRIM54	c.394G>T	NM_187841.3	NP_912730.2:p.(Glu132Ter)	NC_000002.11:g.27522165G>T	VUS	1 lab	a7a6467206
15:75660407 MAN2C1 T>A	15	75660407	75660407	T	A	MAN2C1	c.227+7A>T	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75660407T>A	(Likely) benign	1 lab	a7a81f6a3c
2:179647005 TTN A>G	2	179647005	179647005	A	G	TTN	c.3314T>C	NM_001267550.2	NP_001254479.2:p.(Val1105Ala)	NC_000002.11:g.179647005A>G	VUS	1 lab	a7a8ca8455
6:137234638 PEX7 C>T	6	137234638	137234638	C	T	PEX7	c.946C>T	NM_000288.4	NP_000279.1:p.(Pro316Ser)	NC_000006.11:g.137234638C>T	VUS	1 lab	a7a910f827
2:86071682 ST3GAL5 G>A	2	86071682	86071682	G	A	ST3GAL5	c.850-5C>T	NM_003896.3	NP_003887.3:p.?	NC_000002.11:g.86071682G>A	(Likely) benign	1 lab	298ddf39cc
19:49657773 HRC T>C	19	49657773	49657773	T	C	HRC	c.722A>G	NM_002152.3	NP_002143.1:p.(Gln241Arg)	NC_000019.9:g.49657773T>C	VUS	1 lab	a7aa6d6823
5:161528238 GABRG2 T>G	5	161528238	161528238	T	G	GABRG2	c.549-3T>G	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161528238T>G	VUS	1 lab	a7aa785a84
1:147381202 GJA8 A>AC	1	147381202	147381207	A	AC	GJA8	c.1125dup	NM_005267.5	NP_005258.2:p.(Gly376ArgfsTer4)	NC_000001.10:g.147381207dup	VUS	1 lab	28260fd098
X:17818594 RAI2 T>C	X	17818594	17818594	T	C	RAI2	c.1537A>G	NM_021785.6	NP_068557.4:p.(Ile513Val)	NC_000023.10:g.17818594T>C	(Likely) benign	1 lab	a7b09e8572
1:101458208 DPH5 G>A	1	101458208	101458208	G	A	DPH5	c.619C>T	NM_015958.3	NP_057042.2:p.(Arg207Ter)	NC_000001.10:g.101458208G>A	(Likely) pathogenic	1 lab	a7b141f677
10:73591650 PSAP C>T	10	73591650	73591650	C	T	PSAP	c.202G>A	NM_002778.4	NP_002769.1:p.(Asp68Asn)	NC_000010.10:g.73591650C>T	VUS	1 lab	a7b2edc1f6
18:19029745 GREB1L GGTA>G	18	19029745	19029748	GGTA	G	GREB1L	c.1669_1671del	NM_001142966.3	NP_001136438.1:p.(Val557del)	NC_000018.9:g.19029746_19029748del	VUS	1 lab	a7b2f55194
1:24979076 SRRM1 CCTT>C	1	24979076	24979081	CCTT	C	SRRM1	c.880_882del	NM_005839.4	NP_005830.2:p.(Ser294del)	NC_000001.10:g.24979079_24979081del	VUS	1 lab	a7b39c967e
5:11364909 CTNND2 T>C	5	11364909	11364909	T	C	CTNND2	c.1271A>G	NM_001332.4	NP_001323.1:p.(Tyr424Cys)	NC_000005.9:g.11364909T>C	VUS	1 lab	a7b5561a77
8:11687864 FDFT1 G>A	8	11687864	11687864	G	A	FDFT1	c.814G>A	NM_004462.5	NP_004453.3:p.(Asp272Asn)	NC_000008.10:g.11687864G>A	VUS	1 lab	a7b58d525c
17:79892286 PYCR1 G>C	17	79892286	79892286	G	C	PYCR1	c.713C>G	NM_006907.4	NP_008838.2:p.(Thr238Ser)	NC_000017.10:g.79892286G>C	VUS	1 lab	a7b6c2dd2c
19:41838024 TGFB1 CA>C	19	41838024	41838025	CA	C	TGFB1	c.1014+8del	NM_000660.7	NP_000651.3:p.?	NC_000019.9:g.41838025del	VUS	1 lab	a7b8ef1d8e
4:39191407 WDR19 A>G	4	39191407	39191407	A	G	WDR19	c.290+6A>G	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39191407A>G	VUS	1 lab	a7b95a1e22
1:156105743 LMNA G>A	1	156105743	156105743	G	A	LMNA	c.988G>A	NM_170707.4	NP_733821.1:p.(Glu330Lys)	NC_000001.10:g.156105743G>A	VUS	1 lab	a7bad4d736
11:130298117 ADAMTS8 G>GGCA	11	130298117	130298142	G	GGCA	ADAMTS8	c.62_64dup	NM_007037.6	NP_008968.4:p.(Leu21dup)	NC_000011.9:g.130298140_130298142dup	VUS	1 lab	a7bb6cfe02
8:145738861 RECQL4 C>T	8	145738861	145738861	C	T	RECQL4	c.2204G>A	NM_004260.4	NP_004251.4:p.(Arg735His)	NC_000008.10:g.145738861C>T	(Likely) benign	1 lab	a7bc1eee5f
9:135946581 CEL GGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGT>G	9	135946581	135946654	GGACTCCGAGGCCACTCCCGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGT	G	CEL	c.1700_1765del	NM_001807.6	NP_001798.3:p.(Glu567_Ser588del)	NC_000009.11:g.135946589_135946654del	VUS	1 lab	a7bdf0dc2f
12:116446572 MED13L T>C	12	116446572	116446572	T	C	MED13L	c.1646A>G	NM_015335.5	NP_056150.1:p.(His549Arg)	NC_000012.11:g.116446572T>C	(Likely) benign	1 lab	a7bed9629e
5:180431751 BTNL3 G>A	5	180431751	180431751	G	A	BTNL3	c.851G>A	NM_197975.3	NP_932079.1:p.(Arg284Gln)	NC_000005.9:g.180431751G>A	(Likely) benign	1 lab	a7c118a730
4:2673912 FAM193A C>A	4	2673912	2673912	C	A	FAM193A	c.2144C>A	NM_001366318.2	NP_001353247.1:p.(Pro715Gln)	NC_000004.11:g.2673912C>A	VUS	1 lab	a7c1df868e
2:100623097 AFF3 C>A	2	100623097	100623097	C	A	AFF3	c.870G>T	NM_001386135.1	NP_001373064.1:p.(Gly290=)	NC_000002.11:g.100623097C>A	VUS	1 lab	a7c32706b1
6:30554080 ABCF1 A>G	6	30554080	30554080	A	G	ABCF1	c.1883A>G	NM_001025091.2	NP_001020262.1:p.(His628Arg)	NC_000006.11:g.30554080A>G	VUS	1 lab	a7c3799af1
17:10303855 MYH8 C>T	17	10303855	10303855	C	T	MYH8	c.3587G>A	NM_002472.3	NP_002463.2:p.(Arg1196Gln)	NC_000017.10:g.10303855C>T	VUS	1 lab	a7c41401f8
10:89487228 PAPSS2 A>G	10	89487228	89487228	A	G	PAPSS2	c.1068A>G	NM_001015880.2	NP_001015880.1:p.(Thr356=)	NC_000010.10:g.89487228A>G	VUS	1 lab	a7c451fdd6
16:90099147 DRC4 C>A	16	90099147	90099147	C	A	DRC4	c.310C>A	NM_001481.3	NP_001472.1:p.(His104Asn)	NC_000016.9:g.90099147C>A	VUS	1 lab	a7c49501ac
4:178355566 AGA T>C	4	178355566	178355566	T	C	AGA	c.776A>G	NM_000027.4	NP_000018.2:p.(Asn259Ser)	NC_000004.11:g.178355566T>C	VUS	1 lab	a7c87acebb
15:91310146 BLM G>T	15	91310146	91310146	G	T	BLM	c.2200G>T	NM_000057.4	NP_000048.1:p.(Ala734Ser)	NC_000015.9:g.91310146G>T	VUS	1 lab	a7c9345afe
X:153032658 PLXNB3 G>A	X	153032658	153032658	G	A	PLXNB3	c.376G>A	NM_005393.3	NP_005384.2:p.(Ala126Thr)	NC_000023.10:g.153032658G>A	(Likely) benign	1 lab	a7c9492f90
16:70178343 PDPR A>G	16	70178343	70178343	A	G	PDPR	c.1774A>G	NM_017990.5	NP_060460.4:p.(Thr592Ala)	NC_000016.9:g.70178343A>G	(Likely) benign	1 lab	a7cafd9ee4
15:35083508 ACTC1 TCACAC>T	15	35083508	35083513	TCACAC	T	ACTC1	c.809-17_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083513del	(Likely) benign	1 lab	2827d6d8aa
7:47913504 PKD1L1 C>T	7	47913504	47913504	C	T	PKD1L1	c.3889G>A	NM_138295.5	NP_612152.1:p.(Glu1297Lys)	NC_000007.13:g.47913504C>T	VUS	1 lab	a7ce235f88
3:52179863 POC1A C>T	3	52179863	52179863	C	T	POC1A	c.678G>A	NM_015426.5	NP_056241.3:p.(Gln226=)	NC_000003.11:g.52179863C>T	(Likely) benign	1 lab	a7cf6101a8
18:10691323 PIEZO2 C>A	18	10691323	10691323	C	A	PIEZO2	c.7249G>T	NM_001378183.1	NP_001365112.1:p.(Gly2417Trp)	NC_000018.9:g.10691323C>A	VUS	1 lab	a7d0662fa7
8:68211519 ARFGEF1 A>T	8	68211519	68211519	A	T	ARFGEF1	c.384T>A	NM_006421.5	NP_006412.2:p.(Asp128Glu)	NC_000008.10:g.68211519A>T	VUS	1 lab	a7d22d8e00
7:44266226 CAMK2B T>C	7	44266226	44266226	T	C	CAMK2B	c.1486A>G	NM_001220.5	NP_001211.3:p.(Ile496Val)	NC_000007.13:g.44266226T>C	(Likely) benign	1 lab	a7d43c710b
X:100105195 NOX1 C>T	X	100105195	100105195	C	T	NOX1	c.1078G>A	NM_007052.5	NP_008983.2:p.(Asp360Asn)	NC_000023.10:g.100105195C>T	(Likely) benign	1 lab	a7d4e4b39d
8:107738538 OXR1 G>C	8	107738538	107738538	G	C	OXR1	c.1957-11210G>C	NM_001198533.2	NP_001185462.1:p.?	NC_000008.10:g.107738538G>C	(Likely) benign	1 lab	a7d73da5e6
3:43121716 POMGNT2 G>A	3	43121716	43121716	G	A	POMGNT2	c.1208C>T	NM_032806.6	NP_116195.2:p.(Thr403Ile)	NC_000003.11:g.43121716G>A	VUS	1 lab	a7d8095ea5
17:43555363 PLEKHM1 T>C	17	43555363	43555363	T	C	PLEKHM1	c.199A>G	NM_014798.3	NP_055613.1:p.(Ile67Val)	NC_000017.10:g.43555363T>C	(Likely) benign	1 lab	a7dad357f2
2:203393073 BMPR2 G>A	2	203393073	203393073	G	A	BMPR2	c.968-2444G>A	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203393073G>A	(Likely) benign	1 lab	a7dc3e4b0c
16:78458877 WWOX T>G	16	78458877	78458877	T	G	WWOX	c.716T>G	NM_016373.4	NP_057457.1:p.(Leu239Arg)	NC_000016.9:g.78458877T>G	VUS	1 lab	a7dcc09128
11:65113238 DPF2 C>T	11	65113238	65113238	C	T	DPF2	c.739C>T	NM_006268.5	NP_006259.1:p.(Pro247Ser)	NC_000011.9:g.65113238C>T	VUS	1 lab	a7dd564439
7:100771790 SERPINE1 G>T	7	100771790	100771790	G	T	SERPINE1	c.116G>T	NM_000602.5	NP_000593.1:p.(Gly39Val)	NC_000007.13:g.100771790G>T	VUS	1 lab	a7ddf2a59e
10:73553265 CDH23 G>A	10	73553265	73553265	G	A	CDH23	c.6580G>A	NM_022124.6	NP_071407.4:p.(Ala2194Thr)	NC_000010.10:g.73553265G>A	VUS	1 lab	a7dee9f11a
19:54651917 CNOT3 G>A	19	54651917	54651917	G	A	CNOT3	c.929G>A	NM_014516.4	NP_055331.1:p.(Ser310Asn)	NC_000019.9:g.54651917G>A	(Likely) benign	1 lab	a7df211fda
16:67692913 ACD A>G	16	67692913	67692913	A	G	ACD	c.563T>C	NM_001082486.2	NP_001075955.2:p.(Leu188Pro)	NC_000016.9:g.67692913A>G	VUS	1 lab	a7df9ddfbc
4:146576317 MMAA C>T	4	146576317	146576317	C	T	MMAA	c.988C>T	NM_172250.3	NP_758454.1:p.(Arg330Ter)	NC_000004.11:g.146576317C>T	(Likely) pathogenic	1 lab	a7dfa9d0a2
11:16876520 PLEKHA7 T>G	11	16876520	16876520	T	G	PLEKHA7	c.438A>C	NM_001329630.2	NP_001316559.1:p.(Lys146Asn)	NC_000011.9:g.16876520T>G	(Likely) benign	1 lab	a7e0a5fbb9
11:118380722 KMT2A C>T	11	118380722	118380722	C	T	KMT2A	c.10960C>T	NM_001197104.2	NP_001184033.1:p.(Gln3654Ter)	NC_000011.9:g.118380722C>T	VUS	1 lab	a7e21186b3
2:145274863 ZEB2 T>A	2	145274863	145274863	T	A	ZEB2	c.55A>T	NM_014795.4	NP_055610.1:p.(Asn19Tyr)	NC_000002.11:g.145274863T>A	(Likely) benign	1 lab	a7e2dc6186
3:183960431 ALG3 C>T	3	183960431	183960431	C	T	ALG3	c.1188G>A	NM_005787.6	NP_005778.1:p.(Trp396Ter)	NC_000003.11:g.183960431C>T	(Likely) pathogenic	1 lab	a7e2e4ffc0
9:130265094 LRSAM1 C>G	9	130265094	130265094	C	G	LRSAM1	c.2088C>G	NM_138361.5	NP_612370.3:p.(Cys696Trp)	NC_000009.11:g.130265094C>G	(Likely) pathogenic	1 lab	298f19f20b
21:44838406 SIK1 G>A	21	44838406	44838406	G	A	SIK1	c.1478C>T	NM_173354.5	NP_775490.2:p.(Pro493Leu)	NC_000021.8:g.44838406G>A	(Likely) benign	1 lab	a7e439e845
10:119133858 PDZD8 C>T	10	119133858	119133858	C	T	PDZD8	c.872+9G>A	NM_173791.5	NP_776152.1:p.?	NC_000010.10:g.119133858C>T	(Likely) benign	1 lab	a7e668583d
7:20180780 MACC1 A>C	7	20180780	20180780	A	C	MACC1	c.2348T>G	NM_182762.4	NP_877439.3:p.(Met783Arg)	NC_000007.13:g.20180780A>C	VUS	1 lab	a7e70dcecf
15:43290473 UBR1 G>T	15	43290473	43290473	G	T	UBR1	c.3660-10C>A	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43290473G>T	VUS	1 lab	a7ea7301aa
11:126162893 TIRAP G>A	11	126162893	126162893	G	A	TIRAP	c.589G>A	NM_148910.2	NP_683708.1:p.(Val197Ile)	NC_000011.9:g.126162893G>A	(Likely) benign	1 lab	298ff00058
16:2159065 PKD1 G>GC	16	2159065	2159069	G	GC	PKD1	c.6102dup	NM_001009944.2	NP_001009944.2:p.(Leu2035AlafsTer15)	NC_000016.9:g.2159069dup	(Likely) pathogenic	1 lab	29908e8383
7:34009946 BMPER C>T	7	34009946	34009946	C	T	BMPER	c.408C>T	NM_133468.5	NP_597725.1:p.(Gly136=)	NC_000007.13:g.34009946C>T	(Likely) benign	1 lab	d94a32a92d
X:15306063 ASB11 T>C	X	15306063	15306063	T	C	ASB11	c.787A>G	NM_080873.3	NP_543149.1:p.(Ser263Gly)	NC_000023.10:g.15306063T>C	(Likely) benign	1 lab	a7edc8de6a
21:37572660 DOP1B G>A	21	37572660	37572660	G	A	DOP1B	c.352G>A	NM_001320714.2	NP_001307643.1:p.(Ala118Thr)	NC_000021.8:g.37572660G>A	VUS	1 lab	a7edccacb6
16:30078852 ALDOA C>T	16	30078852	30078852	C	T	ALDOA	c.356C>T	NM_001243177.4	NP_001230106.1:p.(Thr119Ile)	NC_000016.9:g.30078852C>T	VUS	1 lab	a7ef194a71
20:47989945 KCNB1 C>T	20	47989945	47989945	C	T	KCNB1	c.2152G>A	NM_004975.4	NP_004966.1:p.(Val718Met)	NC_000020.10:g.47989945C>T	(Likely) benign	1 lab	a7ef26006a
6:51524714 PKHD1 T>C	6	51524714	51524714	T	C	PKHD1	c.10210A>G	NM_138694.4	NP_619639.3:p.(Ile3404Val)	NC_000006.11:g.51524714T>C	(Likely) benign	1 lab	a7f046a912
22:29629433 EMID1 C>A	22	29629433	29629433	C	A	EMID1	c.889C>A	NM_133455.4	NP_597712.2:p.(Pro297Thr)	NC_000022.10:g.29629433C>A	VUS	1 lab	a7f0a647f1
16:1401939 GNPTG G>A	16	1401939	1401939	G	A	GNPTG	c.-28G>A	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1401939G>A	VUS	1 lab	a7f15cc649
17:78023884 CCDC40 C>T	17	78023884	78023884	C	T	CCDC40	c.961C>T	NM_017950.4	NP_060420.2:p.(Arg321Ter)	NC_000017.10:g.78023884C>T	(Likely) pathogenic	1 lab	a7f2fc311b
17:18183980 TOP3A C>T	17	18183980	18183980	C	T	TOP3A	c.2022-8G>A	NM_004618.5	NP_004609.1:p.?	NC_000017.10:g.18183980C>T	(Likely) benign	1 lab	a7f2fdd55b
9:124083663 GSN C>A	9	124083663	124083663	C	A	GSN	c.1309C>A	NM_198252.3	NP_937895.1:p.(Gln437Lys)	NC_000009.11:g.124083663C>A	(Likely) benign	1 lab	a7f4319881
5:127626513 FBN2 A>G	5	127626513	127626513	A	G	FBN2	c.6356T>C	NM_001999.4	NP_001990.2:p.(Phe2119Ser)	NC_000005.9:g.127626513A>G	(Likely) benign	1 lab	a7f508e042
9:116285250 RGS3 A>T	9	116285250	116285250	A	T	RGS3	c.1463A>T	NM_001394167.1	NP_001381096.1:p.(Lys488Met)	NC_000009.11:g.116285250A>T	(Likely) benign	1 lab	a7f5aa955e
19:4110556 MAP2K2 T>C	19	4110556	4110556	T	C	MAP2K2	c.401A>G	NM_030662.4	NP_109587.1:p.(Tyr134Cys)	NC_000019.9:g.4110556T>C	(Likely) pathogenic	1 lab	a7f791642f
6:35420374 FANCE C>T	6	35420374	35420374	C	T	FANCE	c.52C>T	NM_021922.3	NP_068741.1:p.(Pro18Ser)	NC_000006.11:g.35420374C>T	(Likely) benign	1 lab	a7f7a886d9
19:17768947 UNC13A G>A	19	17768947	17768947	G	A	UNC13A	c.691C>T	NM_001080421.3	NP_001073890.2:p.(Pro231Ser)	NC_000019.9:g.17768947G>A	VUS	1 lab	a7f953d505
9:135945889 CEL G>C	9	135945889	135945889	G	C	CEL	c.1328G>C	NM_001807.6	NP_001798.3:p.(Arg443Pro)	NC_000009.11:g.135945889G>C	(Likely) benign	1 lab	a7fa7a9061
18:10789371 PIEZO2 T>G	18	10789371	10789371	T	G	PIEZO2	c.1883-8A>C	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10789371T>G	(Likely) benign	1 lab	a7fd80caf3
3:138664684 FOXL2 G>A	3	138664684	138664684	G	A	FOXL2	c.881C>T	NM_023067.4	NP_075555.1:p.(Pro294Leu)	NC_000003.11:g.138664684G>A	VUS	1 lab	a7fdeff6d5
12:49444932 KMT2D C>T	12	49444932	49444932	C	T	KMT2D	c.2534G>A	NM_003482.4	NP_003473.3:p.(Arg845Gln)	NC_000012.11:g.49444932C>T	(Likely) benign	1 lab	a7fffe72ef
10:24813702 KIAA1217 C>A	10	24813702	24813702	C	A	KIAA1217	c.2898+9C>A	NM_019590.5	NP_062536.2:p.?	NC_000010.10:g.24813702C>A	(Likely) benign	1 lab	a80174e569
10:31816009 ZEB1 AGAG>A	10	31816009	31816026	AGAG	A	ZEB1	c.3210_3212del	NM_001174096.2	NP_001167567.1:p.(Glu1072del)	NC_000010.10:g.31816024_31816026del	(Likely) benign	1 lab	a801c4bf97
15:99500636 IGF1R C>T	15	99500636	99500636	C	T	IGF1R	c.4069C>T	NM_000875.5	NP_000866.1:p.(Arg1357Trp)	NC_000015.9:g.99500636C>T	VUS	1 lab	a803144984
3:38924845 SCN11A T>C	3	38924845	38924845	T	C	SCN11A	c.3098A>G	NM_001349253.2	NP_001336182.1:p.(Asp1033Gly)	NC_000003.11:g.38924845T>C	VUS	1 lab	a80359f4d0
13:111563063 ANKRD10 T>C	13	111563063	111563063	T	C	ANKRD10	c.265A>G	NM_017664.4	NP_060134.2:p.(Thr89Ala)	NC_000013.10:g.111563063T>C	VUS	1 lab	a8043d0f5f
16:2523776 NTN3 TGCGCGCGGCGAG>T	16	2523776	2523798	TGCGCGCGGCGAG	T	NTN3	c.1424_1435del	NM_006181.3	NP_006172.1:p.(Glu475_Gly478del)	NC_000016.9:g.2523787_2523798del	VUS	1 lab	a807a1a01e
6:157522341 ARID1B C>T	6	157522341	157522341	C	T	ARID1B	c.4982C>T	NM_001374828.1	NP_001361757.1:p.(Pro1661Leu)	NC_000006.11:g.157522341C>T	(Likely) benign	1 lab	a809042dc1
1:22165407 HSPG2 C>T	1	22165407	22165407	C	T	HSPG2	c.10061G>A	NM_005529.7	NP_005520.4:p.(Arg3354His)	NC_000001.10:g.22165407C>T	(Likely) benign	1 lab	a809fc6f61
6:132030543 CTAGE9 G>A	6	132030543	132030543	G	A	CTAGE9	c.1615C>T	NM_001145659.1	NP_001139131.1:p.(Pro539Ser)	NC_000006.11:g.132030543G>A	VUS	1 lab	a80a83e433
21:45712873 AIRE C>T	21	45712873	45712873	C	T	AIRE	c.1096-3C>T	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45712873C>T	(Likely) benign	1 lab	a80ab13a55
7:1786060 ELFN1 G>A	7	1786060	1786060	G	A	ELFN1	c.1828G>A	NM_001128636.4	NP_001122108.1:p.(Gly610Ser)	NC_000007.13:g.1786060G>A	VUS	1 lab	a80f6b3cfa
5:176637201 NSD1 A>G	5	176637201	176637201	A	G	NSD1	c.1801A>G	NM_022455.5	NP_071900.2:p.(Lys601Glu)	NC_000005.9:g.176637201A>G	(Likely) benign	1 lab	a810d63ee2
20:62839780 MYT1 G>A	20	62839780	62839780	G	A	MYT1	c.1231G>A	NM_004535.3	NP_004526.1:p.(Gly411Arg)	NC_000020.10:g.62839780G>A	(Likely) benign	1 lab	a811b818e6
5:149440464 CSF1R C>T	5	149440464	149440464	C	T	CSF1R	c.1930G>A	NM_001288705.3	NP_001275634.1:p.(Glu644Lys)	NC_000005.9:g.149440464C>T	(Likely) benign	1 lab	a81204b15c
12:106763412 POLR3B T>C	12	106763412	106763412	T	C	POLR3B	c.355T>C	NM_018082.6	NP_060552.4:p.(Tyr119His)	NC_000012.11:g.106763412T>C	VUS	1 lab	a8142b609b
7:100855576 PLOD3 G>A	7	100855576	100855576	G	A	PLOD3	c.1085C>T	NM_001084.5	NP_001075.1:p.(Pro362Leu)	NC_000007.13:g.100855576G>A	VUS	1 lab	a814e2ed24
3:58104603 FLNB A>G	3	58104603	58104603	A	G	FLNB	c.2750A>G	NM_001457.4	NP_001448.2:p.(Asn917Ser)	NC_000003.11:g.58104603A>G	(Likely) benign	1 lab	a815a80d22
2:27430239 SLC5A6 G>A	2	27430239	27430239	G	A	SLC5A6	c.280C>T	NM_021095.4	NP_066918.2:p.(Arg94Ter)	NC_000002.11:g.27430239G>A	(Likely) pathogenic	1 lab	a8160bb57e
20:58349437 PHACTR3 G>A	20	58349437	58349437	G	A	PHACTR3	c.1066G>A	NM_080672.5	NP_542403.1:p.(Ala356Thr)	NC_000020.10:g.58349437G>A	(Likely) benign	1 lab	a81661f983
11:4843278 OR51F2 A>G	11	4843278	4843278	A	G	OR51F2	c.627A>G	NM_001004753.2	NP_001004753.2:p.(Thr209=)	NC_000011.9:g.4843278A>G	(Likely) benign	1 lab	a81696605f
18:50731678 DCC G>A	18	50731678	50731678	G	A	DCC	c.1666G>A	NM_005215.4	NP_005206.2:p.(Gly556Ser)	NC_000018.9:g.50731678G>A	VUS	1 lab	a819b80e36
17:60140631 MED13 T>A	17	60140631	60140631	T	A	MED13	c.98A>T	NM_005121.3	NP_005112.2:p.(Tyr33Phe)	NC_000017.10:g.60140631T>A	(Likely) benign	1 lab	a81c02f605
11:2869033 KCNQ1 G>A	11	2869033	2869033	G	A	KCNQ1	c.1831G>A	NM_000218.3	NP_000209.2:p.(Asp611Asn)	NC_000011.9:g.2869033G>A	VUS	1 lab	a912128289
11:17432123 ABCC8 G>A	11	17432123	17432123	G	A	ABCC8	c.2634C>T	NM_000352.6	NP_000343.2:p.(Asp878=)	NC_000011.9:g.17432123G>A	(Likely) benign	1 lab	a81c4c0c18
3:64085259 PRICKLE2 C>T	3	64085259	64085259	C	T	PRICKLE2	c.2003G>A	NM_198859.4	NP_942559.1:p.(Arg668His)	NC_000003.11:g.64085259C>T	(Likely) benign	1 lab	2991df345e
10:104359280 SUFU G>T	10	104359280	104359280	G	T	SUFU	c.1001G>T	NM_016169.4	NP_057253.2:p.(Gly334Val)	NC_000010.10:g.104359280G>T	VUS	1 lab	d94c0c2403
13:84453901 SLITRK1 A>T	13	84453901	84453901	A	T	SLITRK1	c.1742T>A	NM_001281503.2	NP_001268432.1:p.(Leu581Gln)	NC_000013.10:g.84453901A>T	VUS	1 lab	a81d9aa0fe
7:158473516 NCAPG2 C>A	7	158473516	158473516	C	A	NCAPG2	c.925-8G>T	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158473516C>A	(Likely) benign	1 lab	a81e5e8fe7
11:556048 LMNTD2 G>A	11	556048	556048	G	A	LMNTD2	c.1325C>T	NM_173573.3	NP_775844.2:p.(Pro442Leu)	NC_000011.9:g.556048G>A	VUS	1 lab	a81ebd97c8
17:1378307 MYO1C G>A	17	1378307	1378307	G	A	MYO1C	c.1594C>T	NM_001080779.2	NP_001074248.1:p.(Arg532Trp)	NC_000017.10:g.1378307G>A	(Likely) benign	1 lab	a821a132af
17:1631345 WDR81 AGG>A	17	1631345	1631347	AGG	A	WDR81	c.3093_3094del	NM_001163809.2	NP_001157281.1:p.(Glu1032GlyfsTer46)	NC_000017.10:g.1631346_1631347del	VUS	1 lab	a822a7287a
20:450470 MISSING G>A	20	450470	450470	G	A	MISSING				NC_000020.10:g.450470G>A	(Likely) benign	1 lab	a823fe1b3d
17:14095299 COX10 T>C	17	14095299	14095299	T	C	COX10	c.696-7T>C	NM_001303.4	NP_001294.2:p.?	NC_000017.10:g.14095299T>C	(Likely) benign	1 lab	a823fef821
16:29814917 KIF22 C>T	16	29814917	29814917	C	T	KIF22	c.1597C>T	NM_007317.3	NP_015556.1:p.(Pro533Ser)	NC_000016.9:g.29814917C>T	VUS	1 lab	a825be1d17
21:47851561 PCNT G>T	21	47851561	47851561	G	T	PCNT	c.8183G>T	NM_006031.6	NP_006022.3:p.(Arg2728Leu)	NC_000021.8:g.47851561G>T	VUS	1 lab	a82681b19b
12:106786920 POLR3B A>T	12	106786920	106786920	A	T	POLR3B	c.835A>T	NM_018082.6	NP_060552.4:p.(Thr279Ser)	NC_000012.11:g.106786920A>T	VUS	1 lab	a826cb83da
X:69282867 OTUD6A G>A	X	69282867	69282867	G	A	OTUD6A	c.493G>A	NM_207320.3	NP_997203.1:p.(Val165Met)	NC_000023.10:g.69282867G>A	(Likely) benign	1 lab	a827d832a9
14:104643453 KIF26A G>C	14	104643453	104643453	G	C	KIF26A	c.4328G>C	NM_015656.2	NP_056471.1:p.(Gly1443Ala)	NC_000014.8:g.104643453G>C	(Likely) benign	1 lab	a827d8afed
X:153589838 FLNA C>T	X	153589838	153589838	C	T	FLNA	c.3045G>A	NM_001110556.2	NP_001104026.1:p.(Ala1015=)	NC_000023.10:g.153589838C>T	(Likely) benign	1 lab	2992872e7f
7:103185566 RELN A>T	7	103185566	103185566	A	T	RELN	c.6523+5T>A	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103185566A>T	(Likely) benign	1 lab	a82a5c9efa
16:188303 NPRL3 AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT>A	16	188303	188377	AGAGGAGGACGGAGCCGGAGGCGGAGGGGGCCT	A	NPRL3	c.-67-2_-38del	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.188346_188377del	VUS	1 lab	a82a6e3e05
12:464415 KDM5A T>C	12	464415	464415	T	C	KDM5A	c.779A>G	NM_001042603.3	NP_001036068.1:p.(Asp260Gly)	NC_000012.11:g.464415T>C	VUS	1 lab	a82ac5d8ef
2:20212391 MATN3 A>ATGGTGGGCTCCGTGGGCC	2	20212391	20212415	A	ATGGTGGGCTCCGTGGGCC	MATN3	c.-17_1dup	NM_002381.5	NP_002372.1:p.(Met1?)	NC_000002.11:g.20212398_20212415dup	VUS	1 lab	a82afff3ed
X:105855949 RADX T>A	X	105855949	105855949	T	A	RADX	c.639T>A	NM_018015.6	NP_060485.4:p.(Phe213Leu)	NC_000023.10:g.105855949T>A	(Likely) benign	1 lab	a82b235cb6
15:72957375 GOLGA6B C>T	15	72957375	72957375	C	T	GOLGA6B	c.1592C>T	NM_018652.5	NP_061122.4:p.(Thr531Met)	NC_000015.9:g.72957375C>T	VUS	1 lab	a82d8bc1ed
5:36975949 NIPBL A>G	5	36975949	36975949	A	G	NIPBL	c.940A>G	NM_133433.4	NP_597677.2:p.(Ile314Val)	NC_000005.9:g.36975949A>G	VUS	1 lab	a82e0365a1
2:74327970 TET3 C>T	2	74327970	74327970	C	T	TET3	c.4055C>T	NM_001287491.2	NP_001274420.1:p.(Pro1352Leu)	NC_000002.11:g.74327970C>T	VUS	1 lab	a82ee00059
1:245018826 HNRNPU T>C	1	245018826	245018826	T	C	HNRNPU	c.2252A>G	NM_031844.3	NP_114032.2:p.(Tyr751Cys)	NC_000001.10:g.245018826T>C	VUS	1 lab	a82ef72e83
6:39869580 DAAM2 C>T	6	39869580	39869580	C	T	DAAM2	c.2983-9C>T	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39869580C>T	(Likely) benign	1 lab	2998bfe200
2:241661901 KIF1A T>G	2	241661901	241661901	T	G	KIF1A	c.4637A>C	NM_001244008.2	NP_001230937.1:p.(Asn1546Thr)	NC_000002.11:g.241661901T>G	(Likely) benign	1 lab	a82feeabc3
16:88495275 ZNF469 G>C	16	88495275	88495275	G	C	ZNF469	c.1397G>C	NM_001367624.2	NP_001354553.1:p.(Gly466Ala)	NC_000016.9:g.88495275G>C	VUS	1 lab	a8300d9172
7:103270399 RELN T>C	7	103270399	103270399	T	C	RELN	c.2690A>G	NM_005045.4	NP_005036.2:p.(Asp897Gly)	NC_000007.13:g.103270399T>C	VUS	1 lab	a83068da57
4:185615856 CENPU G>A	4	185615856	185615856	G	A	CENPU	c.*586C>T	NM_024629.4	NP_078905.2:p.?	NC_000004.11:g.185615856G>A	(Likely) benign	1 lab	a8319b3f35
21:47552350 COL6A2 A>G	21	47552350	47552350	A	G	COL6A2	c.2944A>G	NM_001849.4	NP_001840.3:p.(Met982Val)	NC_000021.8:g.47552350A>G	(Likely) benign	1 lab	a8330b91b3
19:46283029 DMPK G>C	19	46283029	46283029	G	C	DMPK	c.252+7C>G	NM_004409.5	NP_004400.4:p.?	NC_000019.9:g.46283029G>C	(Likely) benign	1 lab	a8330e1d19
13:39263534 FREM2 G>A	13	39263534	39263534	G	A	FREM2	c.2053G>A	NM_207361.6	NP_997244.4:p.(Gly685Arg)	NC_000013.10:g.39263534G>A	VUS	1 lab	a83615d87d
17:4488144 SMTNL2 G>A	17	4488144	4488144	G	A	SMTNL2	c.244G>A	NM_001114974.2	NP_001108446.1:p.(Glu82Lys)	NC_000017.10:g.4488144G>A	(Likely) benign	1 lab	a838e41067
3:121209036 POLQ AC>A	3	121209036	121209037	AC	A	POLQ	c.2741del	NM_199420.4	NP_955452.3:p.(Ser914MetfsTer5)	NC_000003.11:g.121209037del	VUS	1 lab	a8390ae9c5
3:9475607 SETD5 G>C	3	9475607	9475607	G	C	SETD5	c.150G>C	NM_001080517.3	NP_001073986.1:p.(Arg50Ser)	NC_000003.11:g.9475607G>C	(Likely) benign	1 lab	a8391a0780
12:49718029 TROAP C>G	12	49718029	49718029	C	G	TROAP	c.337+209C>G	NM_005480.4	NP_005471.3:p.?	NC_000012.11:g.49718029C>G	VUS	1 lab	a83a0cde9b
2:210858816 UNC80 T>C	2	210858816	210858816	T	C	UNC80	c.9536T>C	NM_001371986.1	NP_001358915.1:p.(Ile3179Thr)	NC_000002.11:g.210858816T>C	VUS	1 lab	a83a2f3275
1:205156703 DSTYK G>A	1	205156703	205156703	G	A	DSTYK	c.497C>T	NM_015375.3	NP_056190.1:p.(Ala166Val)	NC_000001.10:g.205156703G>A	(Likely) benign	1 lab	a83a629f32
2:47168742 TTC7A G>T	2	47168742	47168742	G	T	TTC7A	c.62G>T	NM_020458.4	NP_065191.2:p.(Arg21Leu)	NC_000002.11:g.47168742G>T	VUS	1 lab	aa1e85b90c
X:148664744 MAGEA9B G>T	X	148664744	148664744	G	T	MAGEA9B	c.92C>A	NM_001080790.1	NP_001074259.1:p.(Pro31His)	NC_000023.10:g.148664744G>T	VUS	1 lab	a83a71eb0a
9:98218563 PTCH1 C>T	9	98218563	98218563	C	T	PTCH1	c.3301G>A	NM_000264.5	NP_000255.2:p.(Ala1101Thr)	NC_000009.11:g.98218563C>T	VUS	1 lab	a83a7d77b4
9:34568928 CNTFR C>T	9	34568928	34568928	C	T	CNTFR	c.52G>A	NM_147164.3	NP_671693.1:p.(Ala18Thr)	NC_000009.11:g.34568928C>T	(Likely) benign	1 lab	a83ab79983
12:66232291 HMGA2 A>G	12	66232291	66232291	A	G	HMGA2	c.199-8A>G	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66232291A>G	(Likely) benign	1 lab	a83b3cc8ad
11:108175400 ATM A>C	11	108175400	108175400	A	C	ATM	c.5497-2A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108175400A>C	(Likely) pathogenic	1 lab	a83bd9bf12
11:71153345 DHCR7 C>T	11	71153345	71153345	C	T	DHCR7	c.376G>A	NM_001360.3	NP_001351.2:p.(Val126Ile)	NC_000011.9:g.71153345C>T	VUS	1 lab	a83c7f078d
12:31255902 DDX11 A>G	12	31255902	31255902	A	G	DDX11	c.2405A>G	NM_030653.4	NP_085911.2:p.(Asn802Ser)	NC_000012.11:g.31255902A>G	VUS	1 lab	a83db7769d
14:69257088 ZFP36L1 G>A	14	69257088	69257088	G	A	ZFP36L1	c.179C>T	NM_004926.4	NP_004917.2:p.(Ser60Phe)	NC_000014.8:g.69257088G>A	VUS	1 lab	a83eaad34a
1:155451505 ASH1L C>T	1	155451505	155451505	C	T	ASH1L	c.1156G>A	NM_018489.3	NP_060959.2:p.(Asp386Asn)	NC_000001.10:g.155451505C>T	VUS	1 lab	a8426d6e50
17:42988774 GFAP C>T	17	42988774	42988774	C	T	GFAP	c.957G>A	NM_002055.5	NP_002046.1:p.(Arg319=)	NC_000017.10:g.42988774C>T	(Likely) benign	1 lab	a842caf3a8
4:47679953 CORIN A>G	4	47679953	47679953	A	G	CORIN	c.1249+2T>C	NM_006587.4	NP_006578.2:p.?	NC_000004.11:g.47679953A>G	VUS	1 lab	a844d68980
13:111080964 COL4A2 C>T	13	111080964	111080964	C	T	COL4A2	c.477+34C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111080964C>T	(Likely) benign	1 lab	a844f3aa67
22:37465187 TMPRSS6 A>G	22	37465187	37465187	A	G	TMPRSS6	c.2039T>C	NM_001374504.1	NP_001361433.1:p.(Leu680Pro)	NC_000022.10:g.37465187A>G	VUS	1 lab	a845b62645
X:10153074 CLCN4 T>C	X	10153074	10153074	T	C	CLCN4	c.2T>C	NM_001830.4	NP_001821.2:p.(Met1?)	NC_000023.10:g.10153074T>C	(Likely) pathogenic	1 lab	a845db454d
19:39066550 RYR1 T>G	19	39066550	39066550	T	G	RYR1	c.14130-9T>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39066550T>G	(Likely) benign	1 lab	a846afe9ac
19:45917215 ERCC1 C>T	19	45917215	45917215	C	T	ERCC1	c.774+6G>A	NM_001983.4	NP_001974.1:p.?	NC_000019.9:g.45917215C>T	VUS	1 lab	a846e475e3
X:24329896 SUPT20HL2 CAGCAGGAGCAGG>C	X	24329896	24329925	CAGCAGGAGCAGG	C	SUPT20HL2	c.1525_1536del	NM_001136233.3	NP_001129705.3:p.(Pro509_Ala512del)	NC_000023.10:g.24329914_24329925del	VUS	1 lab	a84726a5d0
6:5369209 FARS2 C>T	6	5369209	5369209	C	T	FARS2	c.406C>T	NM_006567.5	NP_006558.1:p.(Pro136Ser)	NC_000006.11:g.5369209C>T	VUS	1 lab	a8472f15e3
15:93547951 CHD2 T>G	15	93547951	93547951	T	G	CHD2	c.4383T>G	NM_001271.4	NP_001262.3:p.(Asp1461Glu)	NC_000015.9:g.93547951T>G	(Likely) benign	1 lab	a8473ad525
8:20069692 ATP6V1B2 A>G	8	20069692	20069692	A	G	ATP6V1B2	c.785A>G	NM_001693.4	NP_001684.2:p.(Asn262Ser)	NC_000008.10:g.20069692A>G	VUS	1 lab	a84791f7ff
X:153284746 IRAK1 G>A	X	153284746	153284746	G	A	IRAK1	c.338C>T	NM_001569.4	NP_001560.2:p.(Thr113Ile)	NC_000023.10:g.153284746G>A	(Likely) benign	1 lab	299bf4fb76
15:90209171 PLIN1 GAGCTGAGGGCCCGGC>G	15	90209171	90209189	GAGCTGAGGGCCCGGC	G	PLIN1	c.1210-13_1211del	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90209175_90209189del	(Likely) pathogenic	1 lab	a84ba87b96
9:464206 DOCK8 C>G	9	464206	464206	C	G	DOCK8	c.6287C>G	NM_203447.4	NP_982272.2:p.(Ser2096Ter)	NC_000009.11:g.464206C>G	VUS	1 lab	a84c177227
18:67741133 RTTN T>C	18	67741133	67741133	T	C	RTTN	c.4653+9A>G	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67741133T>C	(Likely) benign	1 lab	a84ccfcf48
3:129325167 PLXND1 C>A	3	129325167	129325167	C	A	PLXND1	c.316G>T	NM_015103.3	NP_055918.3:p.(Ala106Ser)	NC_000003.11:g.129325167C>A	VUS	1 lab	a8502cc468
20:8755196 PLCB1 A>C	20	8755196	8755196	A	C	PLCB1	c.2941A>C	NM_015192.4	NP_056007.1:p.(Ser981Arg)	NC_000020.10:g.8755196A>C	VUS	1 lab	a85157fb86
3:183777345 HTR3C T>G	3	183777345	183777345	T	G	HTR3C	c.842T>G	NM_130770.3	NP_570126.2:p.(Phe281Cys)	NC_000003.11:g.183777345T>G	VUS	1 lab	a85159d258
13:32972728 BRCA2 A>G	13	32972728	32972728	A	G	BRCA2	c.10078A>G	NM_000059.4	NP_000050.3:p.(Lys3360Glu)	NC_000013.10:g.32972728A>G	VUS	1 lab	a851a22475
13:26436499 ATP8A2 T>C	13	26436499	26436499	T	C	ATP8A2	c.3136T>C	NM_016529.6	NP_057613.4:p.(Ser1046Pro)	NC_000013.10:g.26436499T>C	VUS	1 lab	a852a9f34c
19:5143993 KDM4B C>T	19	5143993	5143993	C	T	KDM4B	c.2566C>T	NM_015015.3	NP_055830.1:p.(Arg856Trp)	NC_000019.9:g.5143993C>T	VUS	1 lab	a852c8c528
9:1051556 DMRT2 TTG>T	9	1051556	1051561	TTG	T	DMRT2	c.-44-10_-44-9del	NM_181872.6	NP_870987.2:p.?	NC_000009.11:g.1051560_1051561del	(Likely) benign	1 lab	a8551d666d
X:41383294 CASK T>A	X	41383294	41383294	T	A	CASK	c.2521-7A>T	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41383294T>A	(Likely) benign	1 lab	a858507d4a
11:113935136 ZBTB16 G>C	11	113935136	113935136	G	C	ZBTB16	c.1114G>C	NM_006006.6	NP_005997.2:p.(Gly372Arg)	NC_000011.9:g.113935136G>C	VUS	1 lab	a858715fee
1:25629896 RHD G>T	1	25629896	25629896	G	T	RHD	c.885G>T	NM_016124.4	NP_057208.2:p.(Met295Ile)	NC_000001.10:g.25629896G>T	VUS	1 lab	d94df361ae
11:70267623 CTTN C>G	11	70267623	70267623	C	G	CTTN	c.838C>G	NM_005231.4	NP_005222.2:p.(Gln280Glu)	NC_000011.9:g.70267623C>G	VUS	1 lab	a85a3023e8
20:60897722 LAMA5 G>A	20	60897722	60897722	G	A	LAMA5	c.6157C>T	NM_005560.6	NP_005551.3:p.(Arg2053Cys)	NC_000020.10:g.60897722G>A	(Likely) benign	1 lab	a85a57bd34
X:150770044 PASD1 A>G	X	150770044	150770044	A	G	PASD1	c.19A>G	NM_173493.3	NP_775764.2:p.(Lys7Glu)	NC_000023.10:g.150770044A>G	(Likely) benign	1 lab	a85aac484f
5:111594952 EPB41L4A A>G	5	111594952	111594952	A	G	EPB41L4A	c.769T>C	NM_022140.5	NP_071423.4:p.(Phe257Leu)	NC_000005.9:g.111594952A>G	VUS	1 lab	a85ad024c2
16:1560953 IFT140 C>T	16	1560953	1560953	C	T	IFT140	c.4381G>A	NM_014714.4	NP_055529.2:p.(Asp1461Asn)	NC_000016.9:g.1560953C>T	VUS	1 lab	a85b59f728
X:119513337 ATP1B4 A>T	X	119513337	119513337	A	T	ATP1B4	c.922A>T	NM_001142447.3	NP_001135919.1:p.(Thr308Ser)	NC_000023.10:g.119513337A>T	(Likely) benign	1 lab	a85b8d4e34
X:153296272 MECP2 A>AGGG	X	153296272	153296274	A	AGGG	MECP2	c.1042_1043insCCC	NM_001110792.2	NP_001104262.1:p.(Gly347_Leu348insPro)	NC_000023.10:g.153296273_153296274insGGG	(Likely) pathogenic	1 lab	a85bcbe87f
3:14801433 C3orf20 C>A	3	14801433	14801433	C	A	C3orf20	c.2280C>A	NM_032137.5	NP_115513.4:p.(Asp760Glu)	NC_000003.11:g.14801433C>A	VUS	1 lab	a85d27091d
7:98545973 TRRAP A>G	7	98545973	98545973	A	G	TRRAP	c.4668+10A>G	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98545973A>G	(Likely) benign	1 lab	a85eb7db12
15:77310863 PSTPIP1 C>T	15	77310863	77310863	C	T	PSTPIP1	c.203C>T	NM_003978.3	NP_003969.2:p.(Thr68Met)	NC_000015.9:g.77310863C>T	(Likely) benign	1 lab	299c6787bf
2:211441150 CPS1 C>T	2	211441150	211441150	C	T	CPS1	c.317C>T	NM_001875.5	NP_001866.2:p.(Ala106Val)	NC_000002.11:g.211441150C>T	VUS	1 lab	a85f96ccd8
5:140798959 PCDHGB4 C>A	5	140798959	140798959	C	A	PCDHGB4	c.2397+29111C>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140798959C>A	VUS	1 lab	a85fb5d737
10:95372882 PDE6C G>A	10	95372882	95372882	G	A	PDE6C	c.400G>A	NM_006204.4	NP_006195.3:p.(Val134Ile)	NC_000010.10:g.95372882G>A	VUS	1 lab	a86230d889
16:30705636 SRCAP C>T	16	30705636	30705636	C	T	SRCAP				NC_000016.9:g.30705636C>T	(Likely) benign	1 lab	a862b59b11
13:32912262 BRCA2 C>T	13	32912262	32912262	C	T	BRCA2	c.3770C>T	NM_000059.4	NP_000050.3:p.(Pro1257Leu)	NC_000013.10:g.32912262C>T	(Likely) benign	1 lab	a863f4e6fb
11:17449501 ABCC8 G>A	11	17449501	17449501	G	A	ABCC8	c.2041-12C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17449501G>A	(Likely) benign	1 lab	a86400a3a1
4:2829350 SH3BP2 G>A	4	2829350	2829350	G	A	SH3BP2	c.535G>A	NM_003023.4	NP_003014.3:p.(Glu179Lys)	NC_000004.11:g.2829350G>A	(Likely) benign	1 lab	299d5d391d
1:155448072 ASH1L T>A	1	155448072	155448072	T	A	ASH1L	c.4589A>T	NM_018489.3	NP_060959.2:p.(His1530Leu)	NC_000001.10:g.155448072T>A	(Likely) benign	1 lab	a865a41dcf
16:29884676 SEZ6L2 C>T	16	29884676	29884676	C	T	SEZ6L2	c.2373G>A	NM_001243332.2	NP_001230261.1:p.(Ala791=)	NC_000016.9:g.29884676C>T	VUS	1 lab	a8674c9b18
19:46273828 DMPK G>A	19	46273828	46273828	G	A	DMPK	c.1838C>T	NM_001081563.2	NP_001075032.1:p.(Ala613Val)	NC_000019.9:g.46273828G>A	VUS	1 lab	d94f43086e
21:47783698 PCNT C>T	21	47783698	47783698	C	T	PCNT	c.2458C>T	NM_006031.6	NP_006022.3:p.(Arg820Cys)	NC_000021.8:g.47783698C>T	(Likely) benign	1 lab	a86865e0a6
17:1798346 RPA1 G>A	17	1798346	1798346	G	A	RPA1	c.1703G>A	NM_002945.5	NP_002936.1:p.(Arg568Gln)	NC_000017.10:g.1798346G>A	(Likely) benign	1 lab	a86a72c476
6:24495330 ALDH5A1 G>C	6	24495330	24495330	G	C	ALDH5A1	c.106G>C	NM_001080.3	NP_001071.1:p.(Gly36Arg)	NC_000006.11:g.24495330G>C	(Likely) benign	1 lab	a86a95ba5d
10:73405682 CDH23 G>A	10	73405682	73405682	G	A	CDH23	c.1235G>A	NM_022124.6	NP_071407.4:p.(Arg412His)	NC_000010.10:g.73405682G>A	VUS	1 lab	a86ae16ff2
9:116791084 ZNF618 C>A	9	116791084	116791084	C	A	ZNF618	c.916C>A	NM_001318042.2	NP_001304971.1:p.(Pro306Thr)	NC_000009.11:g.116791084C>A	(Likely) benign	1 lab	a86b9d94f5
3:63982137 ATXN7 T>TG	3	63982137	63982138	T	TG	ATXN7	c.2640dup	NM_001377405.1	NP_001364334.1:p.(Asn881GlufsTer44)	NC_000003.11:g.63982138dup	VUS	1 lab	a86bcf1465
15:89402596 ACAN T>A	15	89402596	89402596	T	A	ACAN	c.6780T>A	NM_001369268.1	NP_001356197.1:p.(Ala2260=)	NC_000015.9:g.89402596T>A	(Likely) benign	1 lab	a86de3f199
16:53726063 RPGRIP1L A>G	16	53726063	53726063	A	G	RPGRIP1L	c.444T>C	NM_015272.5	NP_056087.2:p.(Thr148=)	NC_000016.9:g.53726063A>G	(Likely) benign	1 lab	299ecf2282
5:176700697 NSD1 T>C	5	176700697	176700697	T	C	NSD1	c.5534T>C	NM_022455.5	NP_071900.2:p.(Phe1845Ser)	NC_000005.9:g.176700697T>C	VUS	1 lab	a872cf13b9
17:60108997 MED13 C>A	17	60108997	60108997	C	A	MED13	c.817G>T	NM_005121.3	NP_005112.2:p.(Gly273Cys)	NC_000017.10:g.60108997C>A	VUS	1 lab	a872d8fced
20:13775544 NDUFAF5 C>T	20	13775544	13775544	C	T	NDUFAF5	c.436C>T	NM_024120.5	NP_077025.2:p.(Pro146Ser)	NC_000020.10:g.13775544C>T	VUS	1 lab	a873171131
11:17409302 KCNJ11 T>C	11	17409302	17409302	T	C	KCNJ11	c.337A>G	NM_000525.4	NP_000516.3:p.(Ser113Gly)	NC_000011.9:g.17409302T>C	(Likely) benign	1 lab	a87639bc7f
21:34950722 DONSON CAGTT>C	21	34950722	34950729	CAGTT	C	DONSON	c.1588_1591del	NM_017613.4	NP_060083.1:p.(Asn530ValfsTer27)	NC_000021.8:g.34950726_34950729del	VUS	1 lab	a87639c1eb
19:6710584 C3 GGA>G	19	6710584	6710603	GGA	G	C3	c.1686+64_1686+65del	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6710602_6710603del	(Likely) benign	1 lab	29a1cf317d
10:75911023 ADK GTGGGAGCGCGAAGA>G	10	75911023	75911040	GTGGGAGCGCGAAGA	G	ADK	c.-10_4del	NM_006721.4	NP_006712.2:p.?	NC_000010.10:g.75911027_75911040del	VUS	1 lab	a876d37e93
17:7570318 TP53 G>T	17	7570318	7570318	G	T	TP53				NC_000017.10:g.7570318G>T	VUS	1 lab	a87776ce65
9:135458234 BARHL1 C>T	9	135458234	135458234	C	T	BARHL1	c.50C>T	NM_020064.4	NP_064448.1:p.(Ala17Val)	NC_000009.11:g.135458234C>T	VUS	1 lab	a877bc69ab
8:7191389 USP17L1 G>A	8	7191389	7191389	G	A	USP17L1	c.1481G>A	NM_001256873.1	NP_001243802.1:p.(Arg494Gln)	NC_000008.10:g.7191389G>A	(Likely) benign	1 lab	a8786736ea
19:54637649 MISSING CCT>C	19	54637649	54637656	CCT	C	MISSING				NC_000019.9:g.54637655_54637656del	(Likely) benign	1 lab	a87893925b
19:11541539 ODAD3 G>C	19	11541539	11541539	G	C	ODAD3	c.424C>G	NM_145045.5	NP_659482.3:p.(Leu142Val)	NC_000019.9:g.11541539G>C	(Likely) benign	1 lab	a879892a0b
22:51135991 SHANK3 T>G	22	51135991	51135991	T	G	SHANK3	c.1572-1T>G	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135991T>G	(Likely) benign	1 lab	a87a790104
17:71197816 COG1 T>C	17	71197816	71197816	T	C	COG1	c.1850T>C	NM_018714.3	NP_061184.1:p.(Leu617Pro)	NC_000017.10:g.71197816T>C	VUS	1 lab	a87d33e874
17:8064815 VAMP2 C>T	17	8064815	8064815	C	T	VAMP2	c.310G>A	NM_014232.3	NP_055047.2:p.(Ala104Thr)	NC_000017.10:g.8064815C>T	(Likely) benign	1 lab	a87e26a72a
3:113115502 CFAP44 G>T	3	113115502	113115502	G	T	CFAP44	c.1642C>A	NM_001164496.2	NP_001157968.1:p.(Pro548Thr)	NC_000003.11:g.113115502G>T	VUS	1 lab	a87fbfe97b
8:145617749 ADCK5 G>A	8	145617749	145617749	G	A	ADCK5	c.1357G>A	NM_174922.5	NP_777582.4:p.(Ala453Thr)	NC_000008.10:g.145617749G>A	(Likely) benign	1 lab	a87fecdb84
16:1576628 IFT140 C>G	16	1576628	1576628	C	G	IFT140	c.2569G>C	NM_014714.4	NP_055529.2:p.(Gly857Arg)	NC_000016.9:g.1576628C>G	VUS	1 lab	a8808a9007
17:10310001 MYH8 A>T	17	10310001	10310001	A	T	MYH8	c.2171+6T>A	NM_002472.3	NP_002463.2:p.?	NC_000017.10:g.10310001A>T	(Likely) benign	1 lab	a8816409b9
X:100503146 DRP2 G>A	X	100503146	100503146	G	A	DRP2	c.1321G>A	NM_001939.3	NP_001930.2:p.(Val441Met)	NC_000023.10:g.100503146G>A	(Likely) benign	1 lab	a88265c28f
16:89828358 FANCA G>A	16	89828358	89828358	G	A	FANCA	c.2851C>T	NM_000135.4	NP_000126.2:p.(Arg951Trp)	NC_000016.9:g.89828358G>A	(Likely) pathogenic	1 lab	a8828980da
X:101909580 GPRASP1 A>T	X	101909580	101909580	A	T	GPRASP1	c.739A>T	NM_001184727.2	NP_001171656.1:p.(Ile247Phe)	NC_000023.10:g.101909580A>T	VUS	1 lab	a8830a17d4
12:6443275 TNFRSF1A A>G	12	6443275	6443275	A	G	TNFRSF1A	c.175T>C	NM_001065.3	NP_001056.1:p.(Cys59Arg)	NC_000012.11:g.6443275A>G	(Likely) pathogenic	1 lab	29a223c143
11:65650004 CTSW T>C	11	65650004	65650004	T	C	CTSW	c.538+7T>C	NM_001335.4	NP_001326.3:p.?	NC_000011.9:g.65650004T>C	(Likely) benign	1 lab	a884f9bb2f
16:2141780 PKD1 AC>A	16	2141780	2141782	AC	A	PKD1	c.11537+1del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2141782del	(Likely) pathogenic	1 lab	a8854e276a
9:79323949 PRUNE2 C>T	9	79323949	79323949	C	T	PRUNE2	c.3241G>A	NM_015225.3	NP_056040.2:p.(Asp1081Asn)	NC_000009.11:g.79323949C>T	VUS	1 lab	a885c3c32d
22:29090040 CHEK2 A>G	22	29090040	29090040	A	G	CHEK2	c.1441T>C	NM_007194.4	NP_009125.1:p.(Leu481=)	NC_000022.10:g.29090040A>G	(Likely) benign	1 lab	a8863b85b3
19:35250690 ZNF599 T>TAG	19	35250690	35250694	T	TAG	ZNF599	c.1014_1015dup	NM_001007248.3	NP_001007249.1:p.(Tyr339SerfsTer22)	NC_000019.9:g.35250693_35250694dup	VUS	1 lab	a889b8b3e5
10:114925415 TCF7L2 A>C	10	114925415	114925415	A	C	TCF7L2	c.1544A>C	NM_001367943.1	NP_001354872.1:p.(Asn515Thr)	NC_000010.10:g.114925415A>C	(Likely) benign	1 lab	a88a05a70d
5:32739136 NPR3 C>T	5	32739136	32739136	C	T	NPR3	c.1059C>T	NM_001204375.2	NP_001191304.1:p.(Tyr353=)	NC_000005.9:g.32739136C>T	(Likely) benign	1 lab	a88a1c1108
2:24247133 MFSD2B C>G	2	24247133	24247133	C	G	MFSD2B	c.1482C>G	NM_001346880.2	NP_001333809.1:p.(Ser494Arg)	NC_000002.11:g.24247133C>G	VUS	1 lab	a88d08cd5b
15:32460320 CHRNA7 C>A	15	32460320	32460320	C	A	CHRNA7	c.1257C>A	NM_001190455.3	NP_001177384.1:p.(Arg419=)	NC_000015.9:g.32460320C>A	(Likely) benign	1 lab	d94f51d6eb
3:129325461 PLXND1 C>T	3	129325461	129325461	C	T	PLXND1	c.22G>A	NM_015103.3	NP_055918.3:p.(Gly8Ser)	NC_000003.11:g.129325461C>T	VUS	1 lab	a89108f636
16:14042148 ERCC4 G>T	16	14042148	14042148	G	T	ERCC4	c.2695G>T	NM_005236.3	NP_005227.1:p.(Asp899Tyr)	NC_000016.9:g.14042148G>T	VUS	1 lab	a891d54d16
20:57415753 GNAS-AS1 G>A	20	57415753	57415753	G	A	GNAS-AS1	n.672+1239C>T	NR_185847.1		NC_000020.10:g.57415753G>A	(Likely) benign	1 lab	a8920b0e4b
17:5440270 NLRP1 C>T	17	5440270	5440270	C	T	NLRP1	c.2871-10G>A	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5440270C>T	(Likely) benign	1 lab	33550576b1
8:77764541 ZFHX4 T>C	8	77764541	77764541	T	C	ZFHX4	c.5384T>C	NM_024721.5	NP_078997.4:p.(Ile1795Thr)	NC_000008.10:g.77764541T>C	(Likely) benign	1 lab	a89339e6f5
15:31197468 FAN1 A>G	15	31197468	31197468	A	G	FAN1	c.602A>G	NM_014967.5	NP_055782.3:p.(Asp201Gly)	NC_000015.9:g.31197468A>G	(Likely) benign	1 lab	a893fe902f
1:186083262 HMCN1 A>G	1	186083262	186083262	A	G	HMCN1	c.11276+7A>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186083262A>G	(Likely) benign	1 lab	a894e0a745
11:102980207 DYNC2H1 C>T	11	102980207	102980207	C	T	DYNC2H1	c.-97C>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.102980207C>T	VUS	1 lab	a8f1bfbc3e
2:228159677 COL4A3 C>T	2	228159677	228159677	C	T	COL4A3	c.3419-3C>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228159677C>T	(Likely) benign	1 lab	a895174d49
8:104312381 FZD6 C>G	8	104312381	104312381	C	G	FZD6	c.46C>G	NM_003506.4	NP_003497.2:p.(Leu16Val)	NC_000008.10:g.104312381C>G	(Likely) benign	1 lab	a897b2ab30
14:23523478 CDH24 G>A	14	23523478	23523478	G	A	CDH24	c.844C>T	NM_144985.4	NP_659422.2:p.(Arg282Trp)	NC_000014.8:g.23523478G>A	(Likely) benign	1 lab	a898aedc69
17:55822444 CCDC182 C>G	17	55822444	55822444	C	G	CCDC182	c.190G>C	NM_001282544.2	NP_001269473.1:p.(Asp64His)	NC_000017.10:g.55822444C>G	(Likely) benign	1 lab	a899613144
11:95561013 CEP57 C>T	11	95561013	95561013	C	T	CEP57	c.949C>T	NM_014679.5	NP_055494.2:p.(His317Tyr)	NC_000011.9:g.95561013C>T	VUS	1 lab	a89ea57f1d
10:122622257 WDR11 C>T	10	122622257	122622257	C	T	WDR11	c.537C>T	NM_018117.12	NP_060587.8:p.(Ser179=)	NC_000010.10:g.122622257C>T	(Likely) benign	1 lab	a89ed603ba
19:7293806 INSR C>A	19	7293806	7293806	C	A	INSR	c.97G>T	NM_000208.4	NP_000199.2:p.(Glu33Ter)	NC_000019.9:g.7293806C>A	VUS	1 lab	a8a26f433d
2:178284992 AGPS A>C	2	178284992	178284992	A	C	AGPS	c.261-5A>C	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178284992A>C	(Likely) benign	1 lab	a8a2b016f6
17:2576954 PAFAH1B1 A>C	17	2576954	2576954	A	C	PAFAH1B1	c.672-400A>C	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2576954A>C	(Likely) benign	1 lab	a8a3d98526
19:55087563 LILRA2 G>T	19	55087563	55087563	G	T	LILRA2	c.1242G>T	NM_001130917.3	NP_001124389.2:p.(Glu414Asp)	NC_000019.9:g.55087563G>T	VUS	1 lab	a8a4b07a50
6:90383995 MDN1 G>C	6	90383995	90383995	G	C	MDN1	c.13075C>G	NM_014611.3	NP_055426.1:p.(Pro4359Ala)	NC_000006.11:g.90383995G>C	(Likely) benign	1 lab	a8a844bd6c
1:27874323 AHDC1 C>T	1	27874323	27874323	C	T	AHDC1	c.4304G>A	NM_001371928.1	NP_001358857.1:p.(Gly1435Asp)	NC_000001.10:g.27874323C>T	(Likely) benign	1 lab	a8a87a2fa1
1:237670001 RYR2 A>G	1	237670001	237670001	A	G	RYR2	c.2614-9A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237670001A>G	VUS	1 lab	a92e5246c7
7:33545250 BBS9 A>G	7	33545250	33545250	A	G	BBS9	c.2291A>G	NM_198428.3	NP_940820.1:p.(Gln764Arg)	NC_000007.13:g.33545250A>G	(Likely) benign	1 lab	a8aa7fd69e
9:109687842 ZNF462 C>T	9	109687842	109687842	C	T	ZNF462	c.1649C>T	NM_021224.6	NP_067047.4:p.(Pro550Leu)	NC_000009.11:g.109687842C>T	VUS	1 lab	a8ab0c3f59
14:100835602 WARS1 T>G	14	100835602	100835602	T	G	WARS1	c.-73-7A>C	NM_004184.4	NP_004175.2:p.?	NC_000014.8:g.100835602T>G	(Likely) benign	1 lab	a8ab101757
19:55452385 NLRP7 T>G	19	55452385	55452385	T	G	NLRP7	c.278-12A>C	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55452385T>G	(Likely) benign	1 lab	29ac0bc2a0
7:4827268 AP5Z1 C>T	7	4827268	4827268	C	T	AP5Z1	c.1315C>T	NM_014855.3	NP_055670.1:p.(Leu439=)	NC_000007.13:g.4827268C>T	(Likely) benign	1 lab	29ae334bc4
13:32913736 BRCA2 C>A	13	32913736	32913736	C	A	BRCA2	c.5244C>A	NM_000059.4	NP_000050.3:p.(Ser1748Arg)	NC_000013.10:g.32913736C>A	VUS	1 lab	282c847888
8:75272503 GDAP1 G>A	8	75272503	75272503	G	A	GDAP1	c.442G>A	NM_018972.4	NP_061845.2:p.(Val148Met)	NC_000008.10:g.75272503G>A	VUS	1 lab	a8aef2d6c8
1:22176542 HSPG2 G>A	1	22176542	22176542	G	A	HSPG2	c.7438C>T	NM_005529.7	NP_005520.4:p.(Arg2480Trp)	NC_000001.10:g.22176542G>A	VUS	1 lab	a8b08a41dd
X:48814519 OTUD5 C>G	X	48814519	48814519	C	G	OTUD5	c.314G>C	NM_001136157.2	NP_001129629.1:p.(Gly105Ala)	NC_000023.10:g.48814519C>G	VUS	1 lab	a8b119d711
1:144852390 PDE4DIP C>T	1	144852390	144852390	C	T	PDE4DIP	c.*68G>A	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144852390C>T	VUS	1 lab	a8b246eb6e
14:23886487 MYH7 G>T	14	23886487	23886487	G	T	MYH7	c.4394C>A	NM_000257.4	NP_000248.2:p.(Ser1465Ter)	NC_000014.8:g.23886487G>T	VUS	1 lab	a8b3227499
3:170716930 SLC2A2 C>T	3	170716930	170716930	C	T	SLC2A2	c.1094G>A	NM_000340.2	NP_000331.1:p.(Arg365Gln)	NC_000003.11:g.170716930C>T	VUS	1 lab	a8b4571c54
10:129905608 MKI67 T>C	10	129905608	129905608	T	C	MKI67	c.4496A>G	NM_002417.5	NP_002408.3:p.(Asp1499Gly)	NC_000010.10:g.129905608T>C	VUS	1 lab	a8b587648a
6:51799028 PKHD1 C>T	6	51799028	51799028	C	T	PKHD1	c.6001G>A	NM_138694.4	NP_619639.3:p.(Glu2001Lys)	NC_000006.11:g.51799028C>T	VUS	1 lab	a8b62f12cc
X:8764370 FAM9A C>T	X	8764370	8764370	C	T	FAM9A	c.427G>A	NM_174951.3	NP_777611.1:p.(Ala143Thr)	NC_000023.10:g.8764370C>T	(Likely) benign	1 lab	a8cf0e59f7
X:92928129 NAP1L3 CGCTGCCGCTGCTGCTGCCACTAGTGCT>C	X	92928129	92928161	CGCTGCCGCTGCTGCTGCCACTAGTGCT	C	NAP1L3	c.148_174del	NM_004538.6	NP_004529.2:p.(Ser50_Ser58del)	NC_000023.10:g.92928135_92928161del	(Likely) benign	1 lab	a8b7dc604e
9:113510063 MUSK C>G	9	113510063	113510063	C	G	MUSK	c.896C>G	NM_005592.4	NP_005583.1:p.(Ala299Gly)	NC_000009.11:g.113510063C>G	VUS	1 lab	a8b8c6bfac
2:166786208 TTC21B C>CTGA	2	166786208	166786212	C	CTGA	TTC21B	c.1134_1136dup	NM_024753.5	NP_079029.3:p.(Asp378_Gln379insHis)	NC_000002.11:g.166786210_166786212dup	VUS	1 lab	a8b8f2c331
22:40057263 CACNA1I G>A	22	40057263	40057263	G	A	CACNA1I	c.2849G>A	NM_021096.4	NP_066919.2:p.(Arg950Gln)	NC_000022.10:g.40057263G>A	(Likely) benign	1 lab	a8ba158033
19:8138104 FBN3 C>T	19	8138104	8138104	C	T	FBN3	c.7780G>A	NM_032447.5	NP_115823.3:p.(Val2594Ile)	NC_000019.9:g.8138104C>T	(Likely) benign	1 lab	a8ba2d0211
8:196121 ZNF596 G>T	8	196121	196121	G	T	ZNF596	c.1274G>T	NM_001042416.3	NP_001035881.1:p.(Gly425Val)	NC_000008.10:g.196121G>T	(Likely) benign	1 lab	a8ba42613e
5:171766397 SH3PXD2B G>A	5	171766397	171766397	G	A	SH3PXD2B	c.1712C>T	NM_001017995.3	NP_001017995.1:p.(Pro571Leu)	NC_000005.9:g.171766397G>A	(Likely) benign	1 lab	a8ba8e4c74
1:3389995 ARHGEF16 T>G	1	3389995	3389995	T	G	ARHGEF16	c.1214T>G	NM_014448.4	NP_055263.2:p.(Ile405Ser)	NC_000001.10:g.3389995T>G	VUS	1 lab	a8bc0306a5
2:179441945 TTN A>T	2	179441945	179441945	A	T	TTN	c.69117T>A	NM_001267550.2	NP_001254479.2:p.(Asp23039Glu)	NC_000002.11:g.179441945A>T	VUS	1 lab	a8be0a28ba
2:216259409 FN1 G>C	2	216259409	216259409	G	C	FN1	c.3638C>G	NM_212482.4	NP_997647.2:p.(Thr1213Arg)	NC_000002.11:g.216259409G>C	(Likely) benign	1 lab	a8be9ae8f7
3:136103267 STAG1 C>A	3	136103267	136103267	C	A	STAG1	c.2278-6673G>T	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136103267C>A	(Likely) benign	1 lab	a8bfdab4cb
17:41244715 BRCA1 TAC>T	17	41244715	41244718	TAC	T	BRCA1	c.2831_2832del	NM_007294.4	NP_009225.1:p.(Cys944Ter)	NC_000017.10:g.41244717_41244718del	(Likely) pathogenic	1 lab	2832757b18
X:13754690 OFD1 C>G	X	13754690	13754690	C	G	OFD1	c.205C>G	NM_003611.3	NP_003602.1:p.(Leu69Val)	NC_000023.10:g.13754690C>G	VUS	1 lab	a8c204c227
4:1952800 NSD2 T>TCTCGGACAGCCCGGGAGACGAGCC	4	1952800	1952830	T	TCTCGGACAGCCCGGGAGACGAGCC	NSD2	c.1890_1913dup	NM_001042424.3	NP_001035889.1:p.(Asp630_Ser637dup)	NC_000004.11:g.1952807_1952830dup	VUS	1 lab	a8c2b0a291
X:114424392 RBMXL3 G>A	X	114424392	114424392	G	A	RBMXL3	c.388G>A	NM_001145346.2	NP_001138818.1:p.(Gly130Ser)	NC_000023.10:g.114424392G>A	VUS	1 lab	a8c45ffca2
15:28947281 GOLGA8M G>A	15	28947281	28947281	G	A	GOLGA8M	c.1724-6C>T	NM_001282468.3	NP_001269397.1:p.?	NC_000015.9:g.28947281G>A	(Likely) benign	1 lab	a8c4e43eb0
19:50104935 PRR12 G>A	19	50104935	50104935	G	A	PRR12	c.4533G>A	NM_020719.3	NP_065770.1:p.(Ser1511=)	NC_000019.9:g.50104935G>A	(Likely) benign	1 lab	a8c51bc6b0
6:165842157 PDE10A C>T	6	165842157	165842157	C	T	PDE10A	c.1642G>A	NM_001385079.1	NP_001372008.1:p.(Glu548Lys)	NC_000006.11:g.165842157C>T	VUS	1 lab	a8c7305042
20:31384995 DNMT3B T>G	20	31384995	31384995	T	G	DNMT3B	c.1380T>G	NM_006892.4	NP_008823.1:p.(Asp460Glu)	NC_000020.10:g.31384995T>G	VUS	1 lab	a8c7a0da1d
4:159618695 ETFDH C>CTTTTTTTTTTTTTTT	4	159618695	159618709	C	CTTTTTTTTTTTTTTT	ETFDH	c.832-3_832-2insTTTTTTTTTTTTTTT	NM_004453.4	NP_004444.2:p.?	NC_000004.11:g.159618708_159618709insTTTTTTTTTTTTTTT	(Likely) benign	1 lab	a8c81a4361
17:18156711 FLII A>AGGGC	17	18156711	18156712	A	AGGGC	FLII	c.883_884insGCCC	NM_001256264.2	NP_001243193.1:p.(Phe295CysfsTer3)	NC_000017.10:g.18156711_18156712insGGGC	VUS	1 lab	29b1d47e76
11:6644305 DCHS1 G>T	11	6644305	6644305	G	T	DCHS1	c.8602C>A	NM_003737.4	NP_003728.1:p.(Leu2868Met)	NC_000011.9:g.6644305G>T	(Likely) benign	1 lab	a8c86fd335
17:40354409 STAT5B G>T	17	40354409	40354409	G	T	STAT5B	c.2186C>A	NM_012448.4	NP_036580.2:p.(Ala729Asp)	NC_000017.10:g.40354409G>T	VUS	1 lab	a8c8d1ea5b
17:44249496 KANSL1 G>A	17	44249496	44249496	G	A	KANSL1	c.14C>T	NM_001193466.2	NP_001180395.1:p.(Ala5Val)	NC_000017.10:g.44249496G>A	VUS	1 lab	2833c8ec21
11:8159884 RIC3 C>G	11	8159884	8159884	C	G	RIC3	c.362G>C	NM_001206671.4	NP_001193600.1:p.(Gly121Ala)	NC_000011.9:g.8159884C>G	(Likely) benign	1 lab	29b21f0906
13:25672179 PABPC3 A>G	13	25672179	25672179	A	G	PABPC3	c.1843A>G	NM_030979.3	NP_112241.2:p.(Lys615Glu)	NC_000013.10:g.25672179A>G	VUS	1 lab	a8cba24bd3
19:17370511 USHBP1 G>A	19	17370511	17370511	G	A	USHBP1	c.799C>T	NM_031941.4	NP_114147.2:p.(Arg267Trp)	NC_000019.9:g.17370511G>A	VUS	1 lab	a8ccc803c7
2:228169701 COL4A3 G>A	2	228169701	228169701	G	A	COL4A3	c.4154G>A	NM_000091.5	NP_000082.2:p.(Gly1385Glu)	NC_000002.11:g.228169701G>A	VUS	1 lab	a8cd27b0a5
3:128627931 ACAD9 C>T	3	128627931	128627931	C	T	ACAD9	c.1474C>T	NM_014049.5	NP_054768.2:p.(Pro492Ser)	NC_000003.11:g.128627931C>T	VUS	1 lab	2833e52a9c
5:150646302 GM2A T>G	5	150646302	150646302	T	G	GM2A	c.254T>G	NM_000405.5	NP_000396.2:p.(Val85Gly)	NC_000005.9:g.150646302T>G	VUS	1 lab	a8d02a078d
19:39200103 ACTN4 G>A	19	39200103	39200103	G	A	ACTN4	c.720G>A	NM_004924.6	NP_004915.2:p.(Met240Ile)	NC_000019.9:g.39200103G>A	(Likely) pathogenic	1 lab	29b4029b3d
2:217293505 SMARCAL1 A>T	2	217293505	217293505	A	T	SMARCAL1	c.1334A>T	NM_014140.4	NP_054859.2:p.(Asn445Ile)	NC_000002.11:g.217293505A>T	VUS	1 lab	a8d071b6b1
3:46943322 PTH1R G>A	3	46943322	46943322	G	A	PTH1R	c.1183G>A	NM_000316.3	NP_000307.1:p.(Gly395Ser)	NC_000003.11:g.46943322G>A	VUS	1 lab	a8d24725f7
14:73716818 PAPLN G>A	14	73716818	73716818	G	A	PAPLN	c.461G>A	NM_001365906.3	NP_001352835.1:p.(Cys154Tyr)	NC_000014.8:g.73716818G>A	VUS	1 lab	a8d9ab1d19
22:19754010 TBX1 A>G	22	19754010	19754010	A	G	TBX1	c.1108A>G	NM_080647.1	NP_542378.1:p.(Ser370Gly)	NC_000022.10:g.19754010A>G	(Likely) benign	1 lab	29b4bc9ff6
5:168180047 SLIT3 C>T	5	168180047	168180047	C	T	SLIT3	c.1886G>A	NM_003062.4	NP_003053.2:p.(Ser629Asn)	NC_000005.9:g.168180047C>T	(Likely) benign	1 lab	a8dbd21a49
14:64490988 SYNE2 T>C	14	64490988	64490988	T	C	SYNE2	c.5651T>C	NM_182914.3	NP_878918.2:p.(Leu1884Pro)	NC_000014.8:g.64490988T>C	VUS	1 lab	a8dc0b0485
19:16964961 SIN3B G>T	19	16964961	16964961	G	T	SIN3B	c.947G>T	NM_001297595.2	NP_001284524.1:p.(Arg316Leu)	NC_000019.9:g.16964961G>T	(Likely) benign	1 lab	a8dcf36aa9
6:39881511 MOCS1 G>A	6	39881511	39881511	G	A	MOCS1	c.645+7C>T	NM_001358530.2	NP_001345459.1:p.?	NC_000006.11:g.39881511G>A	VUS	1 lab	a8de1d77ea
5:1255540 TERT G>A	5	1255540	1255540	G	A	TERT	c.3033-14C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1255540G>A	VUS	1 lab	a8e092b6c4
14:30046526 PRKD1 T>C	14	30046526	30046526	T	C	PRKD1	c.2657A>G	NM_002742.3	NP_002733.2:p.(Asn886Ser)	NC_000014.8:g.30046526T>C	(Likely) benign	1 lab	a8e1b2a32f
21:47401805 COL6A1 C>T	21	47401805	47401805	C	T	COL6A1	c.41C>T	NM_001848.3	NP_001839.2:p.(Ala14Val)	NC_000021.8:g.47401805C>T	VUS	1 lab	a8e1eed207
X:27999082 DCAF8L1 C>T	X	27999082	27999082	C	T	DCAF8L1	c.370G>A	NM_001017930.2	NP_001017930.1:p.(Gly124Ser)	NC_000023.10:g.27999082C>T	VUS	1 lab	a8e272493b
7:151904408 KMT2C C>A	7	151904408	151904408	C	A	KMT2C	c.3818G>T	NM_170606.3	NP_733751.2:p.(Arg1273Ile)	NC_000007.13:g.151904408C>A	VUS	1 lab	a8e57a714a
11:126213205 DCPS G>A	11	126213205	126213205	G	A	DCPS	c.640G>A	NM_014026.6	NP_054745.1:p.(Asp214Asn)	NC_000011.9:g.126213205G>A	VUS	1 lab	a8e5a3cd14
16:30100436 TBX6 C>T	16	30100436	30100436	C	T	TBX6	c.449G>A	NM_004608.4	NP_004599.2:p.(Arg150His)	NC_000016.9:g.30100436C>T	VUS	1 lab	a8e5f8d8a5
1:202718236 KDM5B T>C	1	202718236	202718236	T	C	KDM5B	c.1853A>G	NM_006618.5	NP_006609.3:p.(Tyr618Cys)	NC_000001.10:g.202718236T>C	VUS	1 lab	a8e6a2c31d
3:171427380 PLD1 G>A	3	171427380	171427380	G	A	PLD1	c.1031C>T	NM_002662.5	NP_002653.1:p.(Ala344Val)	NC_000003.11:g.171427380G>A	VUS	1 lab	a8e741ab32
22:32156469 DEPDC5 C>T	22	32156469	32156469	C	T	DEPDC5	c.147-173C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32156469C>T	(Likely) benign	1 lab	29b57e6e4e
2:225721677 DOCK10 C>T	2	225721677	225721677	C	T	DOCK10	c.1708G>A	NM_014689.3	NP_055504.2:p.(Gly570Arg)	NC_000002.11:g.225721677C>T	(Likely) benign	1 lab	a8ed7486bf
13:28498759 PDX1 A>G	13	28498759	28498759	A	G	PDX1	c.773A>G	NM_000209.4	NP_000200.1:p.(Glu258Gly)	NC_000013.10:g.28498759A>G	(Likely) benign	1 lab	a8ed87a302
6:132211530 ENPP1 G>C	6	132211530	132211530	G	C	ENPP1	c.2657G>C	NM_006208.3	NP_006199.2:p.(Arg886Thr)	NC_000006.11:g.132211530G>C	(Likely) benign	1 lab	a8edab9098
2:179523261 TTN C>A	2	179523261	179523261	C	A	TTN	c.37561G>T	NM_001267550.2	NP_001254479.2:p.(Glu12521Ter)	NC_000002.11:g.179523261C>A	VUS	1 lab	a8edd3ae74
7:142571899 TRPV6 G>A	7	142571899	142571899	G	A	TRPV6	c.1573-4C>T	NM_018646.6	NP_061116.5:p.?	NC_000007.13:g.142571899G>A	(Likely) benign	1 lab	a8ee8cd0af
5:41172413 C6 A>G	5	41172413	41172413	A	G	C6	c.1205T>C	NM_000065.2	NP_000056.2:p.(Ile402Thr)	NC_000005.9:g.41172413A>G	(Likely) benign	1 lab	29b9e974d4
9:98703733 ERCC6L2 C>T	9	98703733	98703733	C	T	ERCC6L2	c.1752-3C>T	NM_020207.7	NP_064592.3:p.?	NC_000009.11:g.98703733C>T	(Likely) benign	1 lab	a8ef680136
2:179616770 TTN G>A	2	179616770	179616770	G	A	TTN	c.11311+1081C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616770G>A	(Likely) benign	1 lab	a8f0580237
8:41790244 KAT6A T>C	8	41790244	41790244	T	C	KAT6A	c.5494A>G	NM_006766.5	NP_006757.2:p.(Met1832Val)	NC_000008.10:g.41790244T>C	(Likely) benign	1 lab	a8f0f73019
19:14267022 ADGRL1 G>A	19	14267022	14267022	G	A	ADGRL1	c.3034-9C>T	NM_014921.5	NP_055736.2:p.?	NC_000019.9:g.14267022G>A	(Likely) benign	1 lab	a8f240720c
4:103265667 SLC39A8 C>G	4	103265667	103265667	C	G	SLC39A8	c.153G>C	NM_001135146.2	NP_001128618.1:p.(Leu51Phe)	NC_000004.11:g.103265667C>G	(Likely) benign	1 lab	a8f49874bd
16:3900344 CREBBP G>C	16	3900344	3900344	G	C	CREBBP	c.752C>G	NM_004380.3	NP_004371.2:p.(Thr251Ser)	NC_000016.9:g.3900344G>C	(Likely) benign	1 lab	a8f4f87401
12:7843248 GDF3 C>A	12	7843248	7843248	C	A	GDF3	c.321G>T	NM_020634.3	NP_065685.1:p.(Lys107Asn)	NC_000012.11:g.7843248C>A	(Likely) benign	1 lab	a8f697d560
11:95528678 CEP57 A>T	11	95528678	95528678	A	T	CEP57	c.46-3718A>T	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95528678A>T	(Likely) benign	1 lab	a91a9353b7
20:62198582 HELZ2 C>T	20	62198582	62198582	C	T	HELZ2	c.2129G>A	NM_001037335.2	NP_001032412.2:p.(Arg710Gln)	NC_000020.10:g.62198582C>T	(Likely) benign	1 lab	a8fa6d4622
X:114541251 LUZP4 T>TCACTCAGAGAGATCTCGTGGC	X	114541251	114541276	T	TCACTCAGAGAGATCTCGTGGC	LUZP4	c.829_849dup	NM_016383.5	NP_057467.1:p.(Gln277_Thr283dup)	NC_000023.10:g.114541256_114541276dup	VUS	1 lab	a8fb557261
3:12422962 PPARG A>G	3	12422962	12422962	A	G	PPARG	c.362A>G	NM_138711.6	NP_619725.3:p.(Tyr121Cys)	NC_000003.11:g.12422962A>G	(Likely) pathogenic	1 lab	a8fc406f68
11:66488710 SPTBN2 A>G	11	66488710	66488710	A	G	SPTBN2	c.2T>C	NM_006946.4	NP_008877.2:p.(Met1?)	NC_000011.9:g.66488710A>G	VUS	1 lab	a8fd17d62f
5:172755066 STC2 C>A	5	172755066	172755066	C	A	STC2	c.131G>T	NM_003714.3	NP_003705.1:p.(Arg44Leu)	NC_000005.9:g.172755066C>A	VUS	1 lab	a8fd85990a
2:97808552 ANKRD36 A>G	2	97808552	97808552	A	G	ANKRD36	c.881A>G	NM_001354587.1	NP_001341516.1:p.(Asp294Gly)	NC_000002.11:g.97808552A>G	VUS	1 lab	a8fdc497b7
X:110967022 ALG13 T>G	X	110967022	110967022	T	G	ALG13	c.1501-4T>G	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110967022T>G	VUS	1 lab	a8fde68c2c
4:140283047 NAA15 A>AC	4	140283047	140283048	A	AC	NAA15	c.1710dup	NM_057175.5	NP_476516.1:p.(Asn571GlnfsTer6)	NC_000004.11:g.140283048dup	(Likely) pathogenic	1 lab	a8fdf3d0fe
1:152280670 FLG G>T	1	152280670	152280670	G	T	FLG	c.6692C>A	NM_002016.2	NP_002007.1:p.(Ser2231Ter)	NC_000001.10:g.152280670G>T	(Likely) benign	1 lab	a8fec23c81
1:155415036 ASH1L G>A	1	155415036	155415036	G	A	ASH1L	c.5087-6177C>T	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155415036G>A	(Likely) benign	1 lab	a8ff4b6300
15:59124048 MINDY2 C>T	15	59124048	59124048	C	T	MINDY2	c.1301C>T	NM_001040450.3	NP_001035540.1:p.(Thr434Met)	NC_000015.9:g.59124048C>T	VUS	1 lab	a900e6d86f
9:131346745 SPTAN1 T>C	9	131346745	131346745	T	C	SPTAN1	c.2378T>C	NM_001130438.3	NP_001123910.1:p.(Val793Ala)	NC_000009.11:g.131346745T>C	(Likely) benign	1 lab	a901b259a7
14:104251167 PPP1R13B C>T	14	104251167	104251167	C	T	PPP1R13B	c.242G>A	NM_015316.3	NP_056131.2:p.(Arg81Gln)	NC_000014.8:g.104251167C>T	VUS	1 lab	a90202b845
4:85716113 WDFY3 A>C	4	85716113	85716113	A	C	WDFY3	c.3187T>G	NM_014991.6	NP_055806.2:p.(Leu1063Val)	NC_000004.11:g.85716113A>C	(Likely) benign	1 lab	a9023f0039
5:122425982 PRDM6 C>CTCCGCCTCT	5	122425982	122425991	C	CTCCGCCTCT	PRDM6	c.281_282insTTCCGCCTC	NM_001136239.4	NP_001129711.1:p.(Ala93_Ser95dup)	NC_000005.9:g.122425990_122425991insTTCCGCCTC	(Likely) benign	1 lab	a903196c8e
12:79702406 SYT1 AAG>A	12	79702406	79702409	AAG	A	SYT1	c.810+9077_810+9078del	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79702408_79702409del	(Likely) benign	1 lab	a904c3574c
6:88854803 CNR1 G>A	6	88854803	88854803	G	A	CNR1	c.191C>T	NM_016083.6	NP_057167.2:p.(Ala64Val)	NC_000006.11:g.88854803G>A	VUS	1 lab	a9067aef44
13:32950934 BRCA2 AGAGT>A	13	32950934	32950938	AGAGT	A	BRCA2	c.8754+7_8754+10del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950935_32950938del	(Likely) benign	1 lab	a906a62be2
12:72020108 ZFC3H1 T>C	12	72020108	72020108	T	C	ZFC3H1	c.4249A>G	NM_144982.5	NP_659419.3:p.(Lys1417Glu)	NC_000012.11:g.72020108T>C	(Likely) benign	1 lab	a90b11cb9b
6:43014079 CUL7 C>T	6	43014079	43014079	C	T	CUL7	c.2555G>A	NM_014780.5	NP_055595.2:p.(Arg852Gln)	NC_000006.11:g.43014079C>T	(Likely) benign	1 lab	a90b2563d8
X:152226742 PNMA3 G>A	X	152226742	152226742	G	A	PNMA3	c.1330G>A	NM_013364.6	NP_037496.4:p.(Val444Ile)	NC_000023.10:g.152226742G>A	VUS	1 lab	a90d38a5df
17:78041446 CCDC40 G>A	17	78041446	78041446	G	A	CCDC40	c.1562+2041G>A	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78041446G>A	(Likely) benign	1 lab	a90e0cdbb7
X:132352160 TFDP3 G>A	X	132352160	132352160	G	A	TFDP3	c.128C>T	NM_016521.3	NP_057605.3:p.(Pro43Leu)	NC_000023.10:g.132352160G>A	VUS	1 lab	a91071f417
4:56225550 SRD5A3 A>G	4	56225550	56225550	A	G	SRD5A3	c.259A>G	NM_024592.5	NP_078868.1:p.(Asn87Asp)	NC_000004.11:g.56225550A>G	VUS	1 lab	a91103713c
4:88964513 PKD2 G>T	4	88964513	88964513	G	T	PKD2	c.1223G>T	NM_000297.4	NP_000288.1:p.(Ser408Ile)	NC_000004.11:g.88964513G>T	(Likely) benign	1 lab	a9140bdf02
7:44189393 GCK G>A	7	44189393	44189393	G	A	GCK	c.645C>T	NM_000162.5	NP_000153.1:p.(Tyr215=)	NC_000007.13:g.44189393G>A	(Likely) benign	1 lab	a9148d4771
17:65341910 PSMD12 C>T	17	65341910	65341910	C	T	PSMD12	c.859G>A	NM_002816.5	NP_002807.1:p.(Val287Ile)	NC_000017.10:g.65341910C>T	(Likely) benign	1 lab	a917640c69
6:15487603 JARID2 G>A	6	15487603	15487603	G	A	JARID2	c.736G>A	NM_004973.4	NP_004964.2:p.(Ala246Thr)	NC_000006.11:g.15487603G>A	(Likely) benign	1 lab	a9181c8496
2:166756356 TTC21B TGTGCCAGGTATAATC>T	2	166756356	166756378	TGTGCCAGGTATAATC	T	TTC21B	c.2777_2791del	NM_024753.5	NP_079029.3:p.(Arg926_Ala930del)	NC_000002.11:g.166756364_166756378del	VUS	1 lab	a91a572649
16:66836926 NAE1 T>C	16	66836926	66836926	T	C	NAE1	c.1591A>G	NM_003905.4	NP_003896.1:p.(Thr531Ala)	NC_000016.9:g.66836926T>C	VUS	1 lab	a91a9e4604
20:40161864 CHD6 G>C	20	40161864	40161864	G	C	CHD6	c.379C>G	NM_032221.5	NP_115597.3:p.(Pro127Ala)	NC_000020.10:g.40161864G>C	(Likely) benign	1 lab	a91ae2a0de
19:619036 POLRMT GACGCCCAGGGGTGTGA>G	19	619036	619052	GACGCCCAGGGGTGTGA	G	POLRMT	c.3212_3227del	NM_005035.4	NP_005026.3:p.(Val1071AlafsTer16)	NC_000019.9:g.619037_619052del	VUS	1 lab	a91ae55c7b
4:126239623 FAT4 G>A	4	126239623	126239623	G	A	FAT4	c.2057G>A	NM_001291303.3	NP_001278232.1:p.(Ser686Asn)	NC_000004.11:g.126239623G>A	VUS	1 lab	a91c93a1b2
2:109547461 EDAR C>G	2	109547461	109547461	C	G	EDAR	c.10G>C	NM_022336.4	NP_071731.1:p.(Val4Leu)	NC_000002.11:g.109547461C>G	(Likely) benign	1 lab	a91cd19daa
7:70239007 AUTS2 T>C	7	70239007	70239007	T	C	AUTS2	c.1831-7T>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70239007T>C	(Likely) benign	1 lab	a920230a82
10:49943983 WDFY4 C>G	10	49943983	49943983	C	G	WDFY4	c.1746C>G	NM_001394531.1	NP_001381460.1:p.(Cys582Trp)	NC_000010.10:g.49943983C>G	VUS	1 lab	a9208493ae
X:132996534 GPC3 C>T	X	132996534	132996534	C	T	GPC3	c.337+90543G>A	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132996534C>T	(Likely) benign	1 lab	a92258cdea
22:51159589 SHANK3 CTTG>C	22	51159589	51159592	CTTG	C	SHANK3	c.3554_3556del	NM_001372044.2	NP_001358973.1:p.(Leu1185_Ala1186delinsPro)	NC_000022.10:g.51159590_51159592del	VUS	1 lab	a9239c3527
17:62049792 SCN4A GCGGAA>G	17	62049792	62049797	GCGGAA	G	SCN4A	c.307_311del	NM_000334.4	NP_000325.4:p.(Phe103LeufsTer48)	NC_000017.10:g.62049793_62049797del	VUS	1 lab	a9254ad02b
11:836092 CD151 A>C	11	836092	836092	A	C	CD151	c.23A>C	NM_004357.5	NP_004348.2:p.(Lys8Thr)	NC_000011.9:g.836092A>C	(Likely) benign	1 lab	29ba7ef1b4
3:58145395 FLNB G>C	3	58145395	58145395	G	C	FLNB	c.7003G>C	NM_001457.4	NP_001448.2:p.(Val2335Leu)	NC_000003.11:g.58145395G>C	VUS	1 lab	a9265e40ff
17:60042446 MED13 T>C	17	60042446	60042446	T	C	MED13	c.4765A>G	NM_005121.3	NP_005112.2:p.(Thr1589Ala)	NC_000017.10:g.60042446T>C	(Likely) benign	1 lab	a92664ed47
11:67925627 KMT5B TTGC>T	11	67925627	67925637	TTGC	T	KMT5B	c.2183_2185del	NM_017635.5	NP_060105.3:p.(Ser728del)	NC_000011.9:g.67925635_67925637del	VUS	1 lab	a926ce1f35
4:1807300 FGFR3 A>G	4	1807300	1807300	A	G	FGFR3	c.1549A>G	NM_000142.5	NP_000133.1:p.(Lys517Glu)	NC_000004.11:g.1807300A>G	VUS	1 lab	a926ee0551
13:110831606 COL4A1 G>T	13	110831606	110831606	G	T	COL4A1	c.2344+12C>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110831606G>T	(Likely) benign	1 lab	a926f5a774
6:170159996 ERMARD A>G	6	170159996	170159996	A	G	ERMARD	c.668A>G	NM_018341.3	NP_060811.1:p.(Gln223Arg)	NC_000006.11:g.170159996A>G	(Likely) benign	1 lab	a927ff6aae
X:138689880 MCF2 T>C	X	138689880	138689880	T	C	MCF2	c.1688A>G	NM_001171876.2	NP_001165347.1:p.(Asp563Gly)	NC_000023.10:g.138689880T>C	VUS	1 lab	a92967e8f0
22:50968092 TYMP C>G	22	50968092	50968092	C	G	TYMP	c.47G>C	NM_001953.5	NP_001944.1:p.(Gly16Ala)	NC_000022.10:g.50968092C>G	VUS	1 lab	a92997a4ba
16:1251870 CACNA1H C>T	16	1251870	1251870	C	T	CACNA1H	c.1420C>T	NM_021098.3	NP_066921.2:p.(Arg474Cys)	NC_000016.9:g.1251870C>T	VUS	1 lab	a929f6d213
20:23546722 CST9L C>T	20	23546722	23546722	C	T	CST9L	c.243G>A	NM_080610.3	NP_542177.1:p.(Val81=)	NC_000020.10:g.23546722C>T	(Likely) benign	1 lab	a92a8ed97d
4:2833523 SH3BP2 C>T	4	2833523	2833523	C	T	SH3BP2	c.1434+117C>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2833523C>T	(Likely) benign	1 lab	29bcde336e
5:122748153 CEP120 C>T	5	122748153	122748153	C	T	CEP120	c.403G>A	NM_001375405.1	NP_001362334.1:p.(Asp135Asn)	NC_000005.9:g.122748153C>T	VUS	1 lab	a92b603289
18:77227591 NFATC1 A>C	18	77227591	77227591	A	C	NFATC1	c.2092+9A>C	NM_001278669.2	NP_001265598.1:p.?	NC_000018.9:g.77227591A>C	(Likely) benign	1 lab	a92c04b7d7
11:103027154 DYNC2H1 G>C	11	103027154	103027154	G	C	DYNC2H1	c.3782G>C	NM_001377.3	NP_001368.2:p.(Arg1261Thr)	NC_000011.9:g.103027154G>C	VUS	1 lab	a92dd267a8
3:126224793 UROC1 T>G	3	126224793	126224793	T	G	UROC1	c.664A>C	NM_144639.3	NP_653240.1:p.(Thr222Pro)	NC_000003.11:g.126224793T>G	VUS	1 lab	a93281bc10
1:165712543 TMCO1 T>A	1	165712543	165712543	T	A	TMCO1	c.329A>T	NM_019026.6	NP_061899.3:p.(Asp110Val)	NC_000001.10:g.165712543T>A	(Likely) benign	1 lab	a933b32df3
20:3669232 SIGLEC1 G>A	20	3669232	3669232	G	A	SIGLEC1	c.5105C>T	NM_023068.4	NP_075556.1:p.(Ser1702Leu)	NC_000020.10:g.3669232G>A	(Likely) benign	1 lab	a933ca5982
17:40353762 STAT5B T>C	17	40353762	40353762	T	C	STAT5B	c.2358A>G	NM_012448.4	NP_036580.2:p.(Gln786=)	NC_000017.10:g.40353762T>C	(Likely) benign	1 lab	a934a44f66
2:179650691 TTN G>T	2	179650691	179650691	G	T	TTN	c.2254C>A	NM_001267550.2	NP_001254479.2:p.(Arg752Ser)	NC_000002.11:g.179650691G>T	VUS	1 lab	a934a58103
12:133263900 POLE A>G	12	133263900	133263900	A	G	POLE	c.2T>C	NM_006231.4	NP_006222.2:p.(Met1?)	NC_000012.11:g.133263900A>G	(Likely) pathogenic	1 lab	a934fd32b3
X:111195591 TRPC5 G>A	X	111195591	111195591	G	A	TRPC5	c.58C>T	NM_012471.3	NP_036603.1:p.(Leu20=)	NC_000023.10:g.111195591G>A	(Likely) benign	1 lab	a935bf4a15
19:17316132 MYO9B C>A	19	17316132	17316132	C	A	MYO9B	c.5051C>A	NM_004145.4	NP_004136.2:p.(Thr1684Asn)	NC_000019.9:g.17316132C>A	VUS	1 lab	a93604b1f5
16:89347541 ANKRD11 G>C	16	89347541	89347541	G	C	ANKRD11	c.5409C>G	NM_013275.6	NP_037407.4:p.(Phe1803Leu)	NC_000016.9:g.89347541G>C	VUS	1 lab	a9370fa24a
X:154194746 F8 T>C	X	154194746	154194746	T	C	F8	c.1226A>G	NM_000132.3	NP_000123.1:p.(Glu409Gly)	NC_000023.10:g.154194746T>C	(Likely) pathogenic	1 lab	29c242ff24
22:51117858 SHANK3 T>G	22	51117858	51117858	T	G	SHANK3	c.1110+2T>G	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117858T>G	(Likely) pathogenic	1 lab	a93c82939e
6:152464826 SYNE1 G>C	6	152464826	152464826	G	C	SYNE1	c.25051C>G	NM_182961.4	NP_892006.3:p.(Gln8351Glu)	NC_000006.11:g.152464826G>C	VUS	1 lab	a93e544db9
12:49446464 KMT2D G>A	12	49446464	49446464	G	A	KMT2D	c.1141C>T	NM_003482.4	NP_003473.3:p.(Pro381Ser)	NC_000012.11:g.49446464G>A	(Likely) benign	1 lab	a93e642534
9:35805583 NPR2 C>T	9	35805583	35805583	C	T	NPR2	c.1963C>T	NM_003995.4	NP_003986.2:p.(Arg655Cys)	NC_000009.11:g.35805583C>T	(Likely) pathogenic	1 lab	a93eba7b33
X:77912956 RTL3 T>C	X	77912956	77912956	T	C	RTL3	c.962A>G	NM_152694.3	NP_689907.1:p.(Asn321Ser)	NC_000023.10:g.77912956T>C	VUS	1 lab	a93f35128d
4:73956534 ANKRD17 C>T	4	73956534	73956534	C	T	ANKRD17	c.6811G>A	NM_032217.5	NP_115593.3:p.(Gly2271Arg)	NC_000004.11:g.73956534C>T	(Likely) benign	1 lab	a93f93e7ae
X:48674640 HDAC6 G>A	X	48674640	48674640	G	A	HDAC6	c.1586G>A	NM_006044.4	NP_006035.2:p.(Arg529His)	NC_000023.10:g.48674640G>A	VUS	1 lab	a9409be0f7
2:166896085 SCN1A C>T	2	166896085	166896085	C	T	SCN1A	c.2437G>A	NM_001165963.4	NP_001159435.1:p.(Ala813Thr)	NC_000002.11:g.166896085C>T	(Likely) benign	1 lab	a943cdc65a
X:133513661 PHF6 G>A	X	133513661	133513661	G	A	PHF6	c.240+1525G>A	NM_001015877.2	NP_001015877.1:p.?	NC_000023.10:g.133513661G>A	(Likely) benign	1 lab	a94469207a
11:102991648 DYNC2H1 T>C	11	102991648	102991648	T	C	DYNC2H1	c.1249-6T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.102991648T>C	(Likely) benign	1 lab	a9466f970a
9:139405117 NOTCH1 C>T	9	139405117	139405117	C	T	NOTCH1	c.2728G>A	NM_017617.5	NP_060087.3:p.(Asp910Asn)	NC_000009.11:g.139405117C>T	VUS	1 lab	a946bded75
16:4405148 CORO7 G>A	16	4405148	4405148	G	A	CORO7	c.*11C>T	NM_024535.5	NP_078811.3:p.?	NC_000016.9:g.4405148G>A	VUS	1 lab	a947368c51
16:2156567 PKD1 C>T	16	2156567	2156567	C	T	PKD1	c.7321G>A	NM_001009944.3	NP_001009944.3:p.(Gly2441Ser)	NC_000016.9:g.2156567C>T	VUS	1 lab	a9475021dd
X:47446041 TIMP1 G>A	X	47446041	47446041	G	A	TIMP1	c.575G>A	NM_003254.3	NP_003245.1:p.(Arg192Gln)	NC_000023.10:g.47446041G>A	(Likely) benign	1 lab	a94929946c
4:88537384 DSPP TGACAGCAGC>T	4	88537384	88537404	TGACAGCAGC	T	DSPP	c.3582_3590del	NM_014208.3	NP_055023.2:p.(Ser1229_Ser1231del)	NC_000004.11:g.88537396_88537404del	(Likely) benign	1 lab	a949e0a601
X:150842630 PASD1 C>T	X	150842630	150842630	C	T	PASD1	c.2147C>T	NM_173493.3	NP_775764.2:p.(Thr716Ile)	NC_000023.10:g.150842630C>T	(Likely) benign	1 lab	a94adce6d0
16:55893472 CES5A A>G	16	55893472	55893472	A	G	CES5A	c.1043T>C	NM_001143685.2	NP_001137157.1:p.(Phe348Ser)	NC_000016.9:g.55893472A>G	VUS	1 lab	a94c6b0390
19:9064438 MUC16 G>A	19	9064438	9064438	G	A	MUC16	c.23128C>T	NM_001401501.2	NP_001388430.1:p.(Pro7710Ser)	NC_000019.9:g.9064438G>A	VUS	1 lab	a94ca76914
6:42947258 PPP2R5D G>A	6	42947258	42947258	G	A	PPP2R5D				NC_000006.11:g.42947258G>A	(Likely) benign	1 lab	d8615c4c0b
17:16062185 NCOR1 T>C	17	16062185	16062185	T	C	NCOR1	c.621A>G	NM_006311.4	NP_006302.2:p.(Gln207=)	NC_000017.10:g.16062185T>C	(Likely) benign	1 lab	a94d17aa52
X:6451857 VCX3A GTGGTTCCTCCACCTCGCTCTCCTGACTCA>G	X	6451857	6451886	GTGGTTCCTCCACCTCGCTCTCCTGACTCA	G	VCX3A	c.461_489del	NM_016379.4	NP_057463.2:p.(Leu154ProfsTer?)	NC_000023.10:g.6451858_6451886del	VUS	1 lab	a94f343802
1:160160671 CASQ1 G>A	1	160160671	160160671	G	A	CASQ1	c.130G>A	NM_001231.5	NP_001222.3:p.(Asp44Asn)	NC_000001.10:g.160160671G>A	(Likely) benign	1 lab	a94fb1027e
14:105409808 AHNAK2 T>A	14	105409808	105409808	T	A	AHNAK2	c.11980A>T	NM_138420.4	NP_612429.2:p.(Thr3994Ser)	NC_000014.8:g.105409808T>A	(Likely) benign	1 lab	a950c97cea
2:232952320 DIS3L2 G>T	2	232952320	232952320	G	T	DIS3L2	c.490G>T	NM_152383.5	NP_689596.4:p.(Val164Phe)	NC_000002.11:g.232952320G>T	(Likely) benign	1 lab	a9510bbc87
10:28274133 ODAD2 T>C	10	28274133	28274133	T	C	ODAD2	c.390A>G	NM_018076.5	NP_060546.2:p.(Arg130=)	NC_000010.10:g.28274133T>C	VUS	1 lab	a9516dbb7f
7:91727385 AKAP9 G>A	7	91727385	91727385	G	A	AKAP9	c.10608-38G>A	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91727385G>A	(Likely) benign	1 lab	2839ac8b2e
2:179454554 TTN A>G	2	179454554	179454554	A	G	TTN	c.61898T>C	NM_001267550.2	NP_001254479.2:p.(Leu20633Ser)	NC_000002.11:g.179454554A>G	VUS	1 lab	a953c374cc
3:125877431 ALDH1L1 C>T	3	125877431	125877431	C	T	ALDH1L1	c.179G>A	NM_012190.4	NP_036322.2:p.(Arg60His)	NC_000003.11:g.125877431C>T	VUS	1 lab	a9548e6870
2:197183876 HECW2 C>T	2	197183876	197183876	C	T	HECW2	c.1738G>A	NM_001348768.2	NP_001335697.1:p.(Ala580Thr)	NC_000002.11:g.197183876C>T	(Likely) benign	1 lab	a9561d72c2
13:31789194 B3GLCT G>T	13	31789194	31789194	G	T	B3GLCT	c.77G>T	NM_194318.4	NP_919299.3:p.(Gly26Val)	NC_000013.10:g.31789194G>T	(Likely) benign	1 lab	a959a656bf
3:126726638 PLXNA1 G>GC	3	126726638	126726639	G	GC	PLXNA1	c.1998-3dup	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126726639dup	VUS	1 lab	a95c30b9ba
15:55731754 DNAAF4 C>G	15	55731754	55731754	C	G	DNAAF4	c.809G>C	NM_130810.4	NP_570722.2:p.(Arg270Pro)	NC_000015.9:g.55731754C>G	VUS	1 lab	a95f69ddcd
1:235612068 TBCE G>GT	1	235612068	235612069	G	GT	TBCE	c.1575_1576insT	NM_003193.5	NP_003184.1:p.(Arg526SerfsTer7)	NC_000001.10:g.235612068_235612069insT	VUS	1 lab	a96073d1ce
9:35809372 NPR2 TC>T	9	35809372	35809374	TC	T	NPR2	c.3079-3del	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809374del	(Likely) benign	1 lab	a9608f8397
X:152719929 HAUS7 G>A	X	152719929	152719929	G	A	HAUS7	c.968C>T	NM_001385482.1	NP_001372411.1:p.(Ala323Val)	NC_000023.10:g.152719929G>A	VUS	1 lab	a960ee8b57
1:220312366 IARS2 G>A	1	220312366	220312366	G	A	IARS2	c.2192G>A	NM_018060.4	NP_060530.3:p.(Arg731His)	NC_000001.10:g.220312366G>A	(Likely) benign	1 lab	a9610494ae
13:52548897 ATP7B G>A	13	52548897	52548897	G	A	ATP7B	c.459C>T	NM_000053.4	NP_000044.2:p.(Thr153=)	NC_000013.10:g.52548897G>A	VUS	1 lab	29c8116661
4:5567045 EVC2 C>T	4	5567045	5567045	C	T	EVC2	c.3599G>A	NM_147127.5	NP_667338.3:p.(Arg1200Gln)	NC_000004.11:g.5567045C>T	VUS	1 lab	a961b38006
5:151271939 GLRA1 C>G	5	151271939	151271939	C	G	GLRA1	c.117G>C	NM_000171.4	NP_000162.2:p.(Ser39=)	NC_000005.9:g.151271939C>G	(Likely) benign	1 lab	29c8306735
2:152388309 NEB G>A	2	152388309	152388309	G	A	NEB	c.21519C>T	NM_001164508.2	NP_001157980.2:p.(Ser7173=)	NC_000002.11:g.152388309G>A	(Likely) benign	1 lab	a966aabcb4
5:38407981 EGFLAM G>T	5	38407981	38407981	G	T	EGFLAM	c.1222G>T	NM_152403.4	NP_689616.2:p.(Ala408Ser)	NC_000005.9:g.38407981G>T	(Likely) benign	1 lab	a9676fbdf1
14:93263869 GOLGA5 A>G	14	93263869	93263869	A	G	GOLGA5	c.87A>G	NM_005113.4	NP_005104.4:p.(Lys29=)	NC_000014.8:g.93263869A>G	VUS	1 lab	a9684f800d
5:13902245 DNAH5 G>C	5	13902245	13902245	G	C	DNAH5	c.1647C>G	NM_001369.3	NP_001360.1:p.(Asn549Lys)	NC_000005.9:g.13902245G>C	(Likely) benign	1 lab	a968b2378f
1:10713807 CASZ1 G>A	1	10713807	10713807	G	A	CASZ1	c.2307C>T	NM_001079843.3	NP_001073312.1:p.(Asn769=)	NC_000001.10:g.10713807G>A	(Likely) benign	1 lab	a968bd1376
6:117248264 RFX6 AG>A	6	117248264	117248265	AG	A	RFX6	c.1961del	NM_173560.4	NP_775831.2:p.(Ser654MetfsTer119)	NC_000006.11:g.117248265del	(Likely) pathogenic	1 lab	a969706b60
1:162722894 DDR2 G>A	1	162722894	162722894	G	A	DDR2	c.92G>A	NM_006182.4	NP_006173.2:p.(Arg31His)	NC_000001.10:g.162722894G>A	VUS	1 lab	a969a373af
8:118834802 EXT1 C>T	8	118834802	118834802	C	T	EXT1	c.1319G>A	NM_000127.3	NP_000118.2:p.(Arg440His)	NC_000008.10:g.118834802C>T	VUS	1 lab	a969e56a3c
14:55369243 GCH1 C>T	14	55369243	55369243	C	T	GCH1	c.139G>A	NM_000161.3	NP_000152.1:p.(Ala47Thr)	NC_000014.8:g.55369243C>T	VUS	1 lab	a96a3f1a03
17:79900165 MYADML2 A>G	17	79900165	79900165	A	G	MYADML2	c.-103+7T>C	NM_001145113.3	NP_001138585.2:p.?	NC_000017.10:g.79900165A>G	VUS	1 lab	a96bc18183
17:7752286 KDM6B A>G	17	7752286	7752286	A	G	KDM6B	c.2680A>G	NM_001348716.2	NP_001335645.1:p.(Thr894Ala)	NC_000017.10:g.7752286A>G	(Likely) benign	1 lab	a96be5fd2a
17:26110055 NOS2 G>A	17	26110055	26110055	G	A	NOS2	c.545C>T	NM_000625.4	NP_000616.3:p.(Thr182Met)	NC_000017.10:g.26110055G>A	VUS	1 lab	a96c1f8fe2
16:2093649 NTHL1 C>G	16	2093649	2093649	C	G	NTHL1	c.604G>C	NM_002528.7	NP_002519.2:p.(Glu202Gln)	NC_000016.9:g.2093649C>G	VUS	1 lab	a96d3d5207
X:21534639 CNKSR2 C>T	X	21534639	21534639	C	T	CNKSR2	c.847C>T	NM_014927.5	NP_055742.2:p.(Arg283Ter)	NC_000023.10:g.21534639C>T	(Likely) pathogenic	1 lab	a96f747fe6
3:33156020 CRTAP C>G	3	33156020	33156020	C	G	CRTAP	c.451C>G	NM_006371.5	NP_006362.1:p.(Leu151Val)	NC_000003.11:g.33156020C>G	VUS	1 lab	a96f8e3cb2
6:57059655 RAB23 AC>A	6	57059655	57059656	AC	A	RAB23	c.399-6del	NM_016277.5	NP_057361.3:p.?	NC_000006.11:g.57059656del	(Likely) benign	1 lab	a9700a5179
2:3623276 RPS7 T>G	2	3623276	3623276	T	G	RPS7	c.75+2T>G	NM_001011.4	NP_001002.1:p.?	NC_000002.11:g.3623276T>G	VUS	1 lab	a97028f364
16:30735189 SRCAP C>T	16	30735189	30735189	C	T	SRCAP	c.4444C>T	NM_006662.3	NP_006653.2:p.(Pro1482Ser)	NC_000016.9:g.30735189C>T	(Likely) benign	1 lab	a9704ea6d5
11:281784 NLRP6 GAGA>G	11	281784	281799	GAGA	G	NLRP6	c.2063_2065del	NM_001276700.2	NP_001263629.1:p.(Lys688del)	NC_000011.9:g.281797_281799del	(Likely) benign	1 lab	a970e67947
5:93720171 KIAA0825 T>C	5	93720171	93720171	T	C	KIAA0825	c.3620-8A>G	NM_001145678.3	NP_001139150.1:p.?	NC_000005.9:g.93720171T>C	(Likely) benign	1 lab	a97169c405
15:51242346 AP4E1 TTTC>T	15	51242346	51242352	TTTC	T	AP4E1	c.1532_1534del	NM_007347.5	NP_031373.2:p.(Leu511del)	NC_000015.9:g.51242350_51242352del	VUS	1 lab	a974d26bbc
10:129907173 MKI67 T>G	10	129907173	129907173	T	G	MKI67	c.2931A>C	NM_002417.5	NP_002408.3:p.(Lys977Asn)	NC_000010.10:g.129907173T>G	(Likely) benign	1 lab	a97512b4d6
8:144999277 PLEC C>T	8	144999277	144999277	C	T	PLEC	c.5231G>A	NM_201380.4	NP_958782.1:p.(Arg1744Gln)	NC_000008.10:g.144999277C>T	(Likely) benign	1 lab	283dc12f9a
17:1674315 SERPINF1 T>A	17	1674315	1674315	T	A	SERPINF1	c.284-8T>A	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1674315T>A	(Likely) benign	1 lab	a977051d01
11:57582847 CTNND1 C>CT	11	57582847	57582859	C	CT	CTNND1	c.2702-7dup	NM_001085458.2	NP_001078927.1:p.?	NC_000011.9:g.57582859dup	(Likely) benign	1 lab	a977857c29
18:48591813 SMAD4 A>G	18	48591813	48591813	A	G	SMAD4	c.976A>G	NM_005359.6	NP_005350.1:p.(Ile326Val)	NC_000018.9:g.48591813A>G	VUS	1 lab	a977e2322d
19:41076492 SPTBN4 G>T	19	41076492	41076492	G	T	SPTBN4	c.7177G>T	NM_020971.3	NP_066022.2:p.(Gly2393Trp)	NC_000019.9:g.41076492G>T	VUS	1 lab	a977e33e10
X:63410412 AMER1 C>A	X	63410412	63410412	C	A	AMER1	c.2755G>T	NM_152424.4	NP_689637.3:p.(Asp919Tyr)	NC_000023.10:g.63410412C>A	(Likely) benign	1 lab	a9781f9dd2
19:15290262 NOTCH3 C>T	19	15290262	15290262	C	T	NOTCH3	c.3373G>A	NM_000435.3	NP_000426.2:p.(Glu1125Lys)	NC_000019.9:g.15290262C>T	VUS	1 lab	a97952b228
14:31855763 HEATR5A C>T	14	31855763	31855763	C	T	HEATR5A	c.1208G>A	NM_015473.4	NP_056288.2:p.(Gly403Asp)	NC_000014.8:g.31855763C>T	(Likely) benign	1 lab	a979901dbd
3:105459485 CBLB A>G	3	105459485	105459485	A	G	CBLB	c.846-10T>C	NM_170662.5	NP_733762.2:p.?	NC_000003.11:g.105459485A>G	VUS	1 lab	a979d36e07
15:74476307 STRA6 C>T	15	74476307	74476307	C	T	STRA6	c.1190G>A	NM_022369.4	NP_071764.3:p.(Arg397Gln)	NC_000015.9:g.74476307C>T	VUS	1 lab	a97a7b3067
14:102898246 TECPR2 A>G	14	102898246	102898246	A	G	TECPR2	c.1198A>G	NM_014844.5	NP_055659.2:p.(Ser400Gly)	NC_000014.8:g.102898246A>G	(Likely) benign	1 lab	a97ac39cca
17:11514986 DNAH9 A>G	17	11514986	11514986	A	G	DNAH9	c.793A>G	NM_001372.4	NP_001363.2:p.(Ile265Val)	NC_000017.10:g.11514986A>G	VUS	1 lab	a97c1957ea
X:101857929 ARMCX5 A>G	X	101857929	101857929	A	G	ARMCX5	c.860A>G	NM_001168478.2	NP_001161950.1:p.(Gln287Arg)	NC_000023.10:g.101857929A>G	(Likely) benign	1 lab	a97c1e856d
15:44955802 SPG11 C>T	15	44955802	44955802	C	T	SPG11	c.44G>A	NM_025137.4	NP_079413.3:p.(Gly15Asp)	NC_000015.9:g.44955802C>T	VUS	1 lab	a97d5eb70a
3:69031963 EOGT T>C	3	69031963	69031963	T	C	EOGT	c.1213A>G	NM_001278689.2	NP_001265618.1:p.(Arg405Gly)	NC_000003.11:g.69031963T>C	(Likely) benign	1 lab	a97d891919
2:152342419 NEB A>G	2	152342419	152342419	A	G	NEB	c.25433T>C	NM_001164508.2	NP_001157980.2:p.(Met8478Thr)	NC_000002.11:g.152342419A>G	VUS	1 lab	a97e0b42af
7:21939648 DNAH11 C>T	7	21939648	21939648	C	T	DNAH11	c.13213C>T	NM_001277115.2	NP_001264044.1:p.(Arg4405Cys)	NC_000007.13:g.21939648C>T	(Likely) benign	1 lab	a97f703aa4
11:68115630 LRP5 A>G	11	68115630	68115630	A	G	LRP5	c.407A>G	NM_002335.4	NP_002326.2:p.(Asn136Ser)	NC_000011.9:g.68115630A>G	VUS	1 lab	a97f99c2b2
8:70541784 SULF1 GAAC>G	8	70541784	70541790	GAAC	G	SULF1	c.2158_2160del	NM_001128205.2	NP_001121677.1:p.(Asn720del)	NC_000008.10:g.70541788_70541790del	(Likely) benign	1 lab	a97fa1ab4f
13:103339326 METTL21C C>T	13	103339326	103339326	C	T	METTL21C	c.364G>A	NM_001010977.3	NP_001010977.1:p.(Gly122Arg)	NC_000013.10:g.103339326C>T	VUS	1 lab	a9807b8b60
11:45949745 LARGE2 G>A	11	45949745	45949745	G	A	LARGE2	c.1772G>A	NM_001300721.2	NP_001287650.1:p.(Arg591Gln)	NC_000011.9:g.45949745G>A	(Likely) benign	1 lab	a981fa1a33
11:44129782 EXT2 A>C	11	44129782	44129782	A	C	EXT2	c.520A>C	NM_207122.2	NP_997005.1:p.(Met174Leu)	NC_000011.9:g.44129782A>C	(Likely) benign	1 lab	a982b7e495
1:19422124 UBR4 T>C	1	19422124	19422124	T	C	UBR4	c.13541A>G	NM_020765.3	NP_065816.2:p.(Tyr4514Cys)	NC_000001.10:g.19422124T>C	VUS	1 lab	a983283139
8:144887283 SCRIB G>A	8	144887283	144887283	G	A	SCRIB	c.2669C>T	NM_182706.5	NP_874365.3:p.(Ala890Val)	NC_000008.10:g.144887283G>A	(Likely) benign	1 lab	a9868e1bd1
11:65651524 FIBP C>T	11	65651524	65651524	C	T	FIBP	c.1005-10G>A	NM_004214.5	NP_004205.2:p.?	NC_000011.9:g.65651524C>T	(Likely) benign	1 lab	a988399606
3:121994757 CASR C>T	3	121994757	121994757	C	T	CASR	c.1476C>T	NM_000388.4	NP_000379.3:p.(Ile492=)	NC_000003.11:g.121994757C>T	(Likely) benign	1 lab	a9890da85a
7:931953 GET4 T>C	7	931953	931953	T	C	GET4	c.644T>C	NM_015949.3	NP_057033.2:p.(Val215Ala)	NC_000007.13:g.931953T>C	VUS	1 lab	a98a1d79e5
22:32198702 DEPDC5 A>C	22	32198702	32198702	A	C	DEPDC5	c.959A>C	NM_001242896.3	NP_001229825.1:p.(His320Pro)	NC_000022.10:g.32198702A>C	VUS	1 lab	d94fcb0f14
8:21974471 HR G>A	8	21974471	21974471	G	A	HR	c.3295C>T	NM_005144.5	NP_005135.2:p.(Arg1099Trp)	NC_000008.10:g.21974471G>A	VUS	1 lab	a98aaa2c64
19:17316915 MYO9B G>A	19	17316915	17316915	G	A	MYO9B	c.5211G>A	NM_004145.4	NP_004136.2:p.(Ser1737=)	NC_000019.9:g.17316915G>A	VUS	1 lab	a98b58993c
1:46089285 CCDC17 G>A	1	46089285	46089285	G	A	CCDC17	c.214C>T	NM_001114938.3	NP_001108410.2:p.(Gln72Ter)	NC_000001.10:g.46089285G>A	VUS	1 lab	a98b9580d6
11:71146195 DHCR7 G>A	11	71146195	71146195	G	A	DHCR7	c.*226C>T	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71146195G>A	(Likely) benign	1 lab	a98d6f5f8f
5:36976244 NIPBL G>A	5	36976244	36976244	G	A	NIPBL	c.1235G>A	NM_133433.4	NP_597677.2:p.(Arg412His)	NC_000005.9:g.36976244G>A	VUS	1 lab	a98f697135
1:160099917 ATP1A2 GC>G	1	160099917	160099922	GC	G	ATP1A2	c.1492del	NM_000702.4	NP_000693.1:p.(Gln498ArgfsTer6)	NC_000001.10:g.160099922del	VUS	1 lab	a992b375a6
8:144993542 PLEC C>T	8	144993542	144993542	C	T	PLEC	c.10447G>A	NM_201384.3	NP_958786.1:p.(Val3483Met)	NC_000008.10:g.144993542C>T	VUS	1 lab	a9936e579d
6:117240455 RFX6 C>T	6	117240455	117240455	C	T	RFX6	c.1178C>T	NM_173560.4	NP_775831.2:p.(Ala393Val)	NC_000006.11:g.117240455C>T	(Likely) benign	1 lab	a993975930
12:85674105 ALX1 G>A	12	85674105	85674105	G	A	ALX1	c.66G>A	NM_006982.3	NP_008913.2:p.(Met22Ile)	NC_000012.11:g.85674105G>A	VUS	1 lab	a993e5f221
7:135106953 CNOT4 T>A	7	135106953	135106953	T	A	CNOT4	c.324A>T	NM_001190850.2	NP_001177779.1:p.(Lys108Asn)	NC_000007.13:g.135106953T>A	VUS	1 lab	a997367339
4:6302546 WFS1 G>A	4	6302546	6302546	G	A	WFS1	c.1024G>A	NM_006005.3	NP_005996.2:p.(Ala342Thr)	NC_000004.11:g.6302546G>A	VUS	1 lab	a9975d60a4
4:190989624 MISSING G>A	4	190989624	190989624	G	A	MISSING				NC_000004.11:g.190989624G>A	(Likely) benign	1 lab	a9976b8efa
7:151848636 KMT2C C>T	7	151848636	151848636	C	T	KMT2C	c.12557G>A	NM_170606.3	NP_733751.2:p.(Gly4186Asp)	NC_000007.13:g.151848636C>T	(Likely) benign	1 lab	a997910ce8
2:170092421 LRP2 A>T	2	170092421	170092421	A	T	LRP2	c.4849T>A	NM_004525.3	NP_004516.2:p.(Ser1617Thr)	NC_000002.11:g.170092421A>T	VUS	1 lab	a99d345621
9:123290092 CDK5RAP2 C>T	9	123290092	123290092	C	T	CDK5RAP2	c.991G>A	NM_018249.6	NP_060719.4:p.(Glu331Lys)	NC_000009.11:g.123290092C>T	(Likely) benign	1 lab	a99db41de9
22:50893110 SBF1 G>A	22	50893110	50893110	G	A	SBF1	c.4874C>T	NM_002972.4	NP_002963.2:p.(Thr1625Met)	NC_000022.10:g.50893110G>A	VUS	1 lab	a99de9ec18
3:48461245 PLXNB1 T>C	3	48461245	48461245	T	C	PLXNB1	c.2450A>G	NM_001130082.3	NP_001123554.1:p.(Asp817Gly)	NC_000003.11:g.48461245T>C	VUS	1 lab	a99f09bd6a
15:33944926 RYR3 C>T	15	33944926	33944926	C	T	RYR3	c.4150C>T	NM_001036.6	NP_001027.3:p.(Arg1384Cys)	NC_000015.9:g.33944926C>T	VUS	1 lab	a99f3e1056
11:61205545 SDHAF2 C>A	11	61205545	61205545	C	A	SDHAF2	c.330C>A	NM_017841.4	NP_060311.1:p.(Asn110Lys)	NC_000011.9:g.61205545C>A	VUS	1 lab	a9a366aa33
15:76603691 ETFA C>T	15	76603691	76603691	C	T	ETFA	c.39G>A	NM_000126.4	NP_000117.1:p.(Ala13=)	NC_000015.9:g.76603691C>T	VUS	1 lab	a9a3cdb952
X:132670264 GPC3 G>A	X	132670264	132670264	G	A	GPC3	c.1631C>T	NM_004484.4	NP_004475.1:p.(Pro544Leu)	NC_000023.10:g.132670264G>A	(Likely) benign	1 lab	a9a46c208b
2:64796799 AFTPH T>C	2	64796799	64796799	T	C	AFTPH	c.2257T>C	NM_203437.4	NP_982261.2:p.(Tyr753His)	NC_000002.11:g.64796799T>C	VUS	1 lab	a9a560ceac
2:170022523 LRP2 T>G	2	170022523	170022523	T	G	LRP2	c.11677A>C	NM_004525.3	NP_004516.2:p.(Asn3893His)	NC_000002.11:g.170022523T>G	(Likely) pathogenic	1 lab	a9a572ca31
16:4393249 PAM16 A>G	16	4393249	4393249	A	G	PAM16	c.47T>C	NM_016069.11	NP_057153.8:p.(Val16Ala)	NC_000016.9:g.4393249A>G	VUS	1 lab	a9a60bd89e
16:86601119 FOXC2 C>T	16	86601119	86601119	C	T	FOXC2	c.178C>T	NM_005251.3	NP_005242.1:p.(His60Tyr)	NC_000016.9:g.86601119C>T	VUS	1 lab	a9a800687e
2:233655546 GIGYF2 G>C	2	233655546	233655546	G	C	GIGYF2	c.851G>C	NM_001103146.3	NP_001096616.1:p.(Ser284Thr)	NC_000002.11:g.233655546G>C	VUS	1 lab	a9a9787e8d
1:153750812 SLC27A3 G>A	1	153750812	153750812	G	A	SLC27A3	c.1337G>A	NM_024330.4	NP_077306.3:p.(Arg446His)	NC_000001.10:g.153750812G>A	VUS	1 lab	a9aabebb6b
20:33346695 NCOA6 G>A	20	33346695	33346695	G	A	NCOA6	c.556C>T	NM_014071.5	NP_054790.2:p.(Pro186Ser)	NC_000020.10:g.33346695G>A	(Likely) benign	1 lab	a9abc19358
2:102504275 MAP4K4 C>T	2	102504275	102504275	C	T	MAP4K4	c.3807C>T	NM_001395002.1	NP_001381931.1:p.(Ile1269=)	NC_000002.11:g.102504275C>T	(Likely) benign	1 lab	a9abc7ae7f
14:66136004 FUT8 T>C	14	66136004	66136004	T	C	FUT8	c.641T>C	NM_001371533.1	NP_001358462.1:p.(Ile214Thr)	NC_000014.8:g.66136004T>C	VUS	1 lab	a9ac497b08
22:21348429 LZTR1 G>T	22	21348429	21348429	G	T	LZTR1	c.1486G>T	NM_006767.4	NP_006758.2:p.(Ala496Ser)	NC_000022.10:g.21348429G>T	VUS	1 lab	a9ad4fd069
19:51220013 SHANK1 C>T	19	51220013	51220013	C	T	SHANK1	c.164G>A	NM_016148.5	NP_057232.2:p.(Arg55Lys)	NC_000019.9:g.51220013C>T	(Likely) benign	1 lab	a9ae51f913
17:61995822 GH1 G>A	17	61995822	61995822	G	A	GH1	c.55C>T	NM_000515.5	NP_000506.2:p.(Pro19Ser)	NC_000017.10:g.61995822G>A	VUS	1 lab	a9ae9bfd12
15:55622053 PIGB G>A	15	55622053	55622053	G	A	PIGB	c.653+1G>A	NM_004855.5	NP_004846.4:p.?	NC_000015.9:g.55622053G>A	(Likely) pathogenic	1 lab	a9b1e269c7
6:51771134 PKHD1 A>G	6	51771134	51771134	A	G	PKHD1	c.6687T>C	NM_138694.4	NP_619639.3:p.(Ser2229=)	NC_000006.11:g.51771134A>G	(Likely) benign	1 lab	a9b270f0ea
5:32089544 PDZD2 T>C	5	32089544	32089544	T	C	PDZD2	c.5990T>C	NM_178140.4	NP_835260.2:p.(Met1997Thr)	NC_000005.9:g.32089544T>C	(Likely) benign	1 lab	a9b2fce3bc
6:157527484 ARID1B T>C	6	157527484	157527484	T	C	ARID1B	c.5578T>C	NM_001374828.1	NP_001361757.1:p.(Cys1860Arg)	NC_000006.11:g.157527484T>C	VUS	1 lab	a9b394c7f3
1:19491439 UBR4 T>C	1	19491439	19491439	T	C	UBR4	c.4365A>G	NM_020765.3	NP_065816.2:p.(Gln1455=)	NC_000001.10:g.19491439T>C	VUS	1 lab	a9b4763e53
17:10541143 MYH3 C>T	17	10541143	10541143	C	T	MYH3	c.3839G>A	NM_002470.4	NP_002461.2:p.(Arg1280His)	NC_000017.10:g.10541143C>T	VUS	1 lab	a9b4ce34c4
2:196822053 DNAH7 G>A	2	196822053	196822053	G	A	DNAH7	c.3010C>T	NM_018897.3	NP_061720.2:p.(Pro1004Ser)	NC_000002.11:g.196822053G>A	VUS	1 lab	a9b612ca0e
9:2039776 SMARCA2 ACAGCAGCAGCAG>A	9	2039776	2039817	ACAGCAGCAGCAG	A	SMARCA2	c.696_707del	NM_003070.5	NP_003061.3:p.(Gln235_Gln238del)	NC_000009.11:g.2039806_2039817del	(Likely) benign	1 lab	a9b63021a0
18:55359213 ATP8B1 A>G	18	55359213	55359213	A	G	ATP8B1	c.1046T>C	NM_001374385.1	NP_001361314.1:p.(Ile349Thr)	NC_000018.9:g.55359213A>G	VUS	1 lab	a9b6e1b943
17:62026784 SCN4A C>T	17	62026784	62026784	C	T	SCN4A	c.2958G>A	NM_000334.4	NP_000325.4:p.(Glu986=)	NC_000017.10:g.62026784C>T	(Likely) benign	1 lab	a9b8b3e0c1
17:79213191 NDUFAF8 C>G	17	79213191	79213191	C	G	NDUFAF8	c.28C>G	NM_001086521.2	NP_001079990.1:p.(Arg10Gly)	NC_000017.10:g.79213191C>G	VUS	1 lab	a9b9182be1
2:191843690 STAT1 C>A	2	191843690	191843690	C	A	STAT1	c.1765G>T	NM_007315.4	NP_009330.1:p.(Ala589Ser)	NC_000002.11:g.191843690C>A	(Likely) benign	1 lab	a9b96e95bd
22:26219649 MYO18B C>G	22	26219649	26219649	C	G	MYO18B	c.2695+4C>G	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26219649C>G	(Likely) benign	1 lab	a9b9921fe5
9:141016295 CACNA1B G>A	9	141016295	141016295	G	A	CACNA1B	c.6864G>A	NM_000718.4	NP_000709.1:p.(Ser2288=)	NC_000009.11:g.141016295G>A	VUS	1 lab	a9bc31606e
22:32109407 PRR14L T>A	22	32109407	32109407	T	A	PRR14L	c.4418A>T	NM_173566.3	NP_775837.2:p.(His1473Leu)	NC_000022.10:g.32109407T>A	(Likely) benign	1 lab	a9beb52c10
2:27590038 EIF2B4 G>C	2	27590038	27590038	G	C	EIF2B4	c.916C>G	NM_001034116.2	NP_001029288.1:p.(Arg306Gly)	NC_000002.11:g.27590038G>C	(Likely) benign	1 lab	a9c0e90e9a
11:93462868 CEP295 G>C	11	93462868	93462868	G	C	CEP295	c.7488G>C	NM_033395.2	NP_203753.1:p.(Gln2496His)	NC_000011.9:g.93462868G>C	VUS	1 lab	a9c116ed99
2:26426977 HADHA C>T	2	26426977	26426977	C	T	HADHA	c.1174G>A	NM_000182.5	NP_000173.2:p.(Ala392Thr)	NC_000002.11:g.26426977C>T	(Likely) benign	1 lab	a9c14acc07
X:48838247 GRIPAP1 G>A	X	48838247	48838247	G	A	GRIPAP1	c.1637C>T	NM_020137.5	NP_064522.4:p.(Ala546Val)	NC_000023.10:g.48838247G>A	(Likely) benign	1 lab	a9d9a769ae
7:158480039 NCAPG2 CT>A	7	158480039	158480040	CT	A	NCAPG2	c.767_767+1delinsT	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158480039_158480040delinsA	VUS	1 lab	a9c20ca1fd
4:114158197 ANK2 G>T	4	114158197	114158197	G	T	ANK2	c.538G>T	NM_001148.6	NP_001139.3:p.(Ala180Ser)	NC_000004.11:g.114158197G>T	VUS	1 lab	a9c3e00386
9:135947028 CEL CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCT>C	9	135947028	135947066	CGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCT	C	CEL	c.2145_2177del	NM_001807.6	NP_001798.3:p.(Gly721_Ser731del)	NC_000009.11:g.135947034_135947066del	(Likely) benign	1 lab	a9c40e4089
16:3293434 MEFV C>T	16	3293434	3293434	C	T	MEFV	c.2053G>A	NM_000243.2	NP_000234.1:p.(Glu685Lys)	NC_000016.9:g.3293434C>T	VUS	1 lab	29ca2fc639
5:176023855 GPRIN1 A>G	5	176023855	176023855	A	G	GPRIN1	c.2981T>C	NM_052899.3	NP_443131.2:p.(Val994Ala)	NC_000005.9:g.176023855A>G	VUS	1 lab	a9c50a66a2
12:113612859 DDX54 C>T	12	113612859	113612859	C	T	DDX54	c.856G>A	NM_024072.4	NP_076977.3:p.(Val286Met)	NC_000012.11:g.113612859C>T	VUS	1 lab	a9c511e0ea
22:41572357 EP300 C>T	22	41572357	41572357	C	T	EP300	c.4886C>T	NM_001429.4	NP_001420.2:p.(Ala1629Val)	NC_000022.10:g.41572357C>T	VUS	1 lab	a9c5eb8de2
19:56466539 NLRP8 A>G	19	56466539	56466539	A	G	NLRP8	c.1115A>G	NM_176811.2	NP_789781.2:p.(His372Arg)	NC_000019.9:g.56466539A>G	(Likely) benign	1 lab	a9c6207826
6:26027177 H4C2 C>T	6	26027177	26027177	C	T	H4C2	c.304G>A	NM_003544.3	NP_003535.1:p.(Gly102Ser)	NC_000006.11:g.26027177C>T	VUS	1 lab	a9c692af73
4:1801000 FGFR3 C>A	4	1801000	1801000	C	A	FGFR3	c.129C>A	NM_000142.5	NP_000133.1:p.(Pro43=)	NC_000004.11:g.1801000C>A	(Likely) benign	1 lab	a9c79b3eca
17:15496777 FBXW10B C>T	17	15496777	15496777	C	T	FBXW10B	c.1880G>A	NM_006382.4	NP_006373.2:p.(Arg627Gln)	NC_000017.10:g.15496777C>T	(Likely) benign	1 lab	a9c7f019fd
5:168123346 SLIT3 G>A	5	168123346	168123346	G	A	SLIT3	c.3033C>T	NM_003062.3	NP_003053.1:p.(Cys1011=)	NC_000005.9:g.168123346G>A	(Likely) benign	1 lab	29cae2a96d
5:13727635 DNAH5 G>C	5	13727635	13727635	G	C	DNAH5	c.12014C>G	NM_001369.3	NP_001360.1:p.(Pro4005Arg)	NC_000005.9:g.13727635G>C	VUS	1 lab	a9ca5d7b69
19:50100303 PRR12 CGGAGGGCAAGGA>C	19	50100303	50100315	CGGAGGGCAAGGA	C	PRR12	c.2712_2723del	NM_020719.3	NP_065770.1:p.(Glu905_Asp908del)	NC_000019.9:g.50100304_50100315del	VUS	1 lab	a9cb1dfd79
13:113460094 ATP11A G>A	13	113460094	113460094	G	A	ATP11A	c.253-433G>A	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113460094G>A	(Likely) benign	1 lab	a9cb81cf1a
X:107431069 COL4A6 T>A	X	107431069	107431069	T	A	COL4A6	c.1767+9A>T	NM_033641.4	NP_378667.1:p.?	NC_000023.10:g.107431069T>A	(Likely) benign	1 lab	a9cccacdce
7:146829500 CNTNAP2 C>T	7	146829500	146829500	C	T	CNTNAP2	c.1247C>T	NM_014141.6	NP_054860.1:p.(Ala416Val)	NC_000007.13:g.146829500C>T	(Likely) benign	1 lab	a9cda90edc
6:80629139 ELOVL4 G>T	6	80629139	80629139	G	T	ELOVL4	c.667C>A	NM_022726.4	NP_073563.1:p.(Leu223Met)	NC_000006.11:g.80629139G>T	(Likely) benign	1 lab	a9cde7a96f
15:69238307 SPESP1 C>G	15	69238307	69238307	C	G	SPESP1	c.434C>G	NM_145658.4	NP_663633.1:p.(Pro145Arg)	NC_000015.9:g.69238307C>G	(Likely) benign	1 lab	a9ce0de76e
1:27057814 ARID1A C>T	1	27057814	27057814	C	T	ARID1A	c.1522C>T	NM_006015.6	NP_006006.3:p.(Pro508Ser)	NC_000001.10:g.27057814C>T	VUS	1 lab	a9cee81766
2:202483711 CATSPERT G>A	2	202483711	202483711	G	A	CATSPERT	c.143C>T	NM_001168221.2	NP_001161693.1:p.(Ala48Val)	NC_000002.11:g.202483711G>A	(Likely) benign	1 lab	a9d26836c2
1:38281098 MTF1 G>C	1	38281098	38281098	G	C	MTF1	c.1972C>G	NM_005955.3	NP_005946.2:p.(Pro658Ala)	NC_000001.10:g.38281098G>C	VUS	1 lab	a9d2f85fe3
14:21500079 TPPP2 G>A	14	21500079	21500079	G	A	TPPP2	c.356G>A	NM_173846.5	NP_776245.2:p.(Arg119His)	NC_000014.8:g.21500079G>A	VUS	1 lab	a9d372bf10
7:151891178 KMT2C C>A	7	151891178	151891178	C	A	KMT2C	c.4576G>T	NM_170606.3	NP_733751.2:p.(Ala1526Ser)	NC_000007.13:g.151891178C>A	(Likely) benign	1 lab	a9d5151a95
11:68853357 TPCN2 C>T	11	68853357	68853357	C	T	TPCN2	c.1962C>T	NM_139075.4	NP_620714.2:p.(Asn654=)	NC_000011.9:g.68853357C>T	(Likely) benign	1 lab	a9d547e49b
1:147381244 GJA8 T>G	1	147381244	147381244	T	G	GJA8	c.1162T>G	NM_005267.5	NP_005258.2:p.(Ser388Ala)	NC_000001.10:g.147381244T>G	(Likely) benign	1 lab	a9d731e41e
4:1808330 FGFR3 C>T	4	1808330	1808330	C	T	FGFR3	c.2088C>T	NM_000142.5	NP_000133.1:p.(Pro696=)	NC_000004.11:g.1808330C>T	(Likely) benign	1 lab	a9db3b5d4a
6:121768726 GJA1 G>A	6	121768726	121768726	G	A	GJA1	c.733G>A	NM_000165.5	NP_000156.1:p.(Asp245Asn)	NC_000006.11:g.121768726G>A	(Likely) benign	1 lab	a9dc29d4f2
11:76901775 MYO7A G>A	11	76901775	76901775	G	A	MYO7A	c.3784G>A	NM_000260.4	NP_000251.3:p.(Val1262Met)	NC_000011.9:g.76901775G>A	VUS	1 lab	a9dcf67877
20:25062315 VSX1 T>TA	20	25062315	25062316	T	TA	VSX1	c.417_418insT	NM_014588.6	NP_055403.2:p.(Thr140TyrfsTer4)	NC_000020.10:g.25062315_25062316insA	VUS	1 lab	a9dff50232
9:13223661 MPDZ G>GGCC	9	13223661	13223664	G	GGCC	MPDZ	c.439_441dup	NM_001378778.1	NP_001365707.1:p.(Gly147dup)	NC_000009.11:g.13223662_13223664dup	VUS	1 lab	a9e062c5a2
21:36042478 CLIC6 T>A	21	36042478	36042478	T	A	CLIC6	c.791T>A	NM_053277.3	NP_444507.1:p.(Val264Asp)	NC_000021.8:g.36042478T>A	(Likely) benign	1 lab	a9e3619c18
17:40354473 STAT5B A>T	17	40354473	40354473	A	T	STAT5B	c.2130-8T>A	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40354473A>T	(Likely) benign	1 lab	a9e3fdebcc
1:162746023 DDR2 T>C	1	162746023	162746023	T	C	DDR2	c.2146T>C	NM_006182.4	NP_006173.2:p.(Cys716Arg)	NC_000001.10:g.162746023T>C	(Likely) pathogenic	1 lab	a9e4167d57
11:103173965 DYNC2H1 G>A	11	103173965	103173965	G	A	DYNC2H1	c.11239G>A	NM_001377.3	NP_001368.2:p.(Gly3747Arg)	NC_000011.9:g.103173965G>A	(Likely) benign	1 lab	a9e4a4f86b
1:225288441 DNAH14 T>C	1	225288441	225288441	T	C	DNAH14	c.3722T>C	NM_001367479.1	NP_001354408.1:p.(Phe1241Ser)	NC_000001.10:g.225288441T>C	VUS	1 lab	a9e697e4be
2:1639242 PXDN C>T	2	1639242	1639242	C	T	PXDN	c.4258G>A	NM_012293.3	NP_036425.1:p.(Gly1420Ser)	NC_000002.11:g.1639242C>T	VUS	1 lab	a9e7de76a6
7:73944180 GTF2IRD1 A>G	7	73944180	73944180	A	G	GTF2IRD1	c.1207A>G	NM_005685.4	NP_005676.3:p.(Thr403Ala)	NC_000007.13:g.73944180A>G	(Likely) benign	1 lab	a9ea014ef8
7:128491266 FLNC C>T	7	128491266	128491266	C	T	FLNC	c.5540-20C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491266C>T	(Likely) benign	1 lab	a9eb72cccc
11:113105886 NCAM1 C>T	11	113105886	113105886	C	T	NCAM1	c.1825C>T	NM_181351.5	NP_851996.2:p.(Gln609Ter)	NC_000011.9:g.113105886C>T	VUS	1 lab	a9ec0515b9
17:73945315 ACOX1 C>A	17	73945315	73945315	C	A	ACOX1	c.1711G>T	NM_004035.7	NP_004026.2:p.(Ala571Ser)	NC_000017.10:g.73945315C>A	(Likely) benign	1 lab	a9ec13e75c
11:71148926 DHCR7 G>A	11	71148926	71148926	G	A	DHCR7	c.895C>T	NM_001360.3	NP_001351.2:p.(His299Tyr)	NC_000011.9:g.71148926G>A	VUS	1 lab	a9ec90373b
16:70975575 HYDIN T>C	16	70975575	70975575	T	C	HYDIN	c.6817A>G	NM_001270974.2	NP_001257903.1:p.(Met2273Val)	NC_000016.9:g.70975575T>C	(Likely) benign	1 lab	a9ed34e016
1:200960231 KIF21B G>T	1	200960231	200960231	G	T	KIF21B	c.2501C>A	NM_001252102.2	NP_001239031.1:p.(Ala834Glu)	NC_000001.10:g.200960231G>T	(Likely) benign	1 lab	a9ee676ae1
15:90320298 MESP2 G>A	15	90320298	90320298	G	A	MESP2	c.710G>A	NM_001039958.2	NP_001035047.1:p.(Gly237Glu)	NC_000015.9:g.90320298G>A	(Likely) benign	1 lab	a9eec07389
2:26414336 HADHA A>G	2	26414336	26414336	A	G	HADHA	c.2146+16T>C	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26414336A>G	(Likely) benign	1 lab	29cfecbf12
12:52080988 SCN8A G>A	12	52080988	52080988	G	A	SCN8A	c.599G>A	NM_001330260.2	NP_001317189.1:p.(Ser200Asn)	NC_000012.11:g.52080988G>A	VUS	1 lab	a9eefe01fb
17:42978401 DNAAF19 T>C	17	42978401	42978401	T	C	DNAAF19	c.35T>C	NM_213607.3	NP_998772.1:p.(Leu12Ser)	NC_000017.10:g.42978401T>C	VUS	1 lab	a9efac9d4d
9:94486783 ROR2 T>C	9	94486783	94486783	T	C	ROR2	c.1993A>G	NM_004560.4	NP_004551.2:p.(Met665Val)	NC_000009.11:g.94486783T>C	VUS	1 lab	a9f0877934
7:98575892 TRRAP A>G	7	98575892	98575892	A	G	TRRAP	c.8444A>G	NM_001375524.1	NP_001362453.1:p.(Asn2815Ser)	NC_000007.13:g.98575892A>G	(Likely) benign	1 lab	a9f136f5b6
16:2160897 PKD1 G>A	16	2160897	2160897	G	A	PKD1	c.4271C>T	NM_001009944.3	NP_001009944.3:p.(Thr1424Ile)	NC_000016.9:g.2160897G>A	(Likely) benign	1 lab	a9f1900d2c
X:100748342 ARMCX4 C>T	X	100748342	100748342	C	T	ARMCX4	c.4766C>T	NM_001256155.3	NP_001243084.2:p.(Ala1589Val)	NC_000023.10:g.100748342C>T	VUS	1 lab	a9f2306375
1:906717 PLEKHN1 G>A	1	906717	906717	G	A	PLEKHN1	c.722G>A	NM_032129.3	NP_115505.2:p.(Arg241Gln)	NC_000001.10:g.906717G>A	VUS	1 lab	a9f36d318e
19:13323124 CACNA1A T>G	19	13323124	13323124	T	G	CACNA1A	c.6189+74A>C	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13323124T>G	(Likely) benign	1 lab	29cff9fe03
1:154709520 KCNN3 C>T	1	154709520	154709520	C	T	KCNN3	c.1449-3900G>A	NM_002249.6	NP_002240.3:p.?	NC_000001.10:g.154709520C>T	VUS	1 lab	a9f56b8dfd
11:67377053 NDUFV1 G>A	11	67377053	67377053	G	A	NDUFV1	c.457G>A	NM_007103.4	NP_009034.2:p.(Ala153Thr)	NC_000011.9:g.67377053G>A	VUS	1 lab	a9f5e8b2b6
1:1277162 DVL1 T>C	1	1277162	1277162	T	C	DVL1	c.490A>G	NM_001330311.2	NP_001317240.1:p.(Arg164Gly)	NC_000001.10:g.1277162T>C	(Likely) benign	1 lab	a9f62f6b16
X:124455931 TEX13C G>A	X	124455931	124455931	G	A	TEX13C	c.1963G>A	NM_001195272.2	NP_001182201.1:p.(Val655Met)	NC_000023.10:g.124455931G>A	(Likely) benign	1 lab	a9f7077065
2:179527104 TTN C>A	2	179527104	179527104	C	A	TTN	c.37000G>T	NM_001267550.2	NP_001254479.2:p.(Val12334Leu)	NC_000002.11:g.179527104C>A	VUS	1 lab	a9f8c95a98
X:70823950 GCNA C>T	X	70823950	70823950	C	T	GCNA	c.823C>T	NM_052957.5	NP_443189.1:p.(Pro275Ser)	NC_000023.10:g.70823950C>T	(Likely) benign	1 lab	a9f96b9012
6:87965841 ZNF292 A>C	6	87965841	87965841	A	C	ZNF292	c.2494A>C	NM_015021.3	NP_055836.1:p.(Ser832Arg)	NC_000006.11:g.87965841A>C	(Likely) benign	1 lab	a9f9951022
1:1403801 ATAD3C A>C	1	1403801	1403801	A	C	ATAD3C	c.1127A>C	NM_001039211.3	NP_001034300.2:p.(Glu376Ala)	NC_000001.10:g.1403801A>C	VUS	1 lab	a9f9aabd15
6:52762717 GSTA3 T>C	6	52762717	52762717	T	C	GSTA3	c.452A>G	NM_000847.5	NP_000838.3:p.(Asn151Ser)	NC_000006.11:g.52762717T>C	(Likely) benign	1 lab	a9fa31a5b5
17:10353819 MYH4 T>A	17	10353819	10353819	T	A	MYH4	c.4132A>T	NM_017533.2	NP_060003.2:p.(Lys1378Ter)	NC_000017.10:g.10353819T>A	VUS	1 lab	a9faad5d3e
3:10312076 TATDN2 G>A	3	10312076	10312076	G	A	TATDN2	c.1210G>A	NM_014760.4	NP_055575.3:p.(Asp404Asn)	NC_000003.11:g.10312076G>A	(Likely) benign	1 lab	a9fb562115
10:100242394 HPSE2 T>G	10	100242394	100242394	T	G	HPSE2	c.1612A>C	NM_021828.5	NP_068600.4:p.(Lys538Gln)	NC_000010.10:g.100242394T>G	VUS	1 lab	a9fcd1982a
7:96650310 DLX5 G>C	7	96650310	96650310	G	C	DLX5	c.608C>G	NM_005221.6	NP_005212.1:p.(Pro203Arg)	NC_000007.13:g.96650310G>C	VUS	1 lab	a9fdba7e4d
11:47433954 SLC39A13 G>T	11	47433954	47433954	G	T	SLC39A13	c.473G>T	NM_001128225.3	NP_001121697.2:p.(Gly158Val)	NC_000011.9:g.47433954G>T	VUS	1 lab	aa002490ac
16:51173801 SALL1 C>T	16	51173801	51173801	C	T	SALL1	c.2332G>A	NM_002968.3	NP_002959.2:p.(Ala778Thr)	NC_000016.9:g.51173801C>T	(Likely) benign	1 lab	aa00487d6f
17:40717823 COASY G>C	17	40717823	40717823	G	C	COASY	c.1632G>C	NM_025233.7	NP_079509.5:p.(Gln544His)	NC_000017.10:g.40717823G>C	VUS	1 lab	aa00598d7a
3:189587161 TP63 G>A	3	189587161	189587161	G	A	TP63	c.1178G>A	NM_003722.5	NP_003713.3:p.(Arg393Gln)	NC_000003.11:g.189587161G>A	VUS	1 lab	aa01690892
11:108013235 ACAT1 G>A	11	108013235	108013235	G	A	ACAT1	c.898G>A	NM_000019.4	NP_000010.1:p.(Ala300Thr)	NC_000011.9:g.108013235G>A	VUS	1 lab	aa02aa5433
11:65638656 EFEMP2 A>C	11	65638656	65638656	A	C	EFEMP2	c.339T>G	NM_016938.5	NP_058634.4:p.(Tyr113Ter)	NC_000011.9:g.65638656A>C	VUS	1 lab	aa0a7ce3e9
15:89401310 ACAN G>A	15	89401310	89401310	G	A	ACAN	c.5494G>A	NM_001369268.1	NP_001356197.1:p.(Val1832Met)	NC_000015.9:g.89401310G>A	VUS	1 lab	aa0ba1fb9e
19:54301483 NLRP12 T>C	19	54301483	54301483	T	C	NLRP12	c.2927+14A>G	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54301483T>C	(Likely) benign	1 lab	29d70f6480
19:36558302 WDR62 G>A	19	36558302	36558302	G	A	WDR62	c.656G>A	NM_001083961.2	NP_001077430.1:p.(Arg219His)	NC_000019.9:g.36558302G>A	(Likely) benign	1 lab	aa0d2507ed
12:111785894 CUX2 C>T	12	111785894	111785894	C	T	CUX2	c.4226C>T	NM_015267.4	NP_056082.2:p.(Ser1409Phe)	NC_000012.11:g.111785894C>T	VUS	1 lab	aa0db98725
14:23858206 MYH6 C>T	14	23858206	23858206	C	T	MYH6	c.4037G>A	NM_002471.4	NP_002462.2:p.(Arg1346Gln)	NC_000014.8:g.23858206C>T	VUS	1 lab	2841f7279f
X:103267857 H2BW1 G>A	X	103267857	103267857	G	A	H2BW1	c.292C>T	NM_001002916.5	NP_001002916.4:p.(Arg98Cys)	NC_000023.10:g.103267857G>A	(Likely) benign	1 lab	aa119cdc68
17:8065861 VAMP2 C>A	17	8065861	8065861	C	A	VAMP2	c.3-174G>T	NM_014232.3	NP_055047.2:p.?	NC_000017.10:g.8065861C>A	(Likely) benign	1 lab	aa11d0c48c
9:37783725 EXOSC3 T>C	9	37783725	37783725	T	C	EXOSC3	c.474+186A>G	NM_016042.4	NP_057126.2:p.?	NC_000009.11:g.37783725T>C	(Likely) benign	1 lab	aa12fb0816
1:22852824 ZBTB40 G>A	1	22852824	22852824	G	A	ZBTB40	c.3655G>A	NM_014870.4	NP_055685.3:p.(Val1219Met)	NC_000001.10:g.22852824G>A	(Likely) benign	1 lab	aa14ea2692
1:151378395 POGZ C>T	1	151378395	151378395	C	T	POGZ	c.3116G>A	NM_015100.4	NP_055915.2:p.(Arg1039His)	NC_000001.10:g.151378395C>T	(Likely) benign	1 lab	aa151d1210
7:100281012 GIGYF1 T>C	7	100281012	100281012	T	C	GIGYF1	c.2108A>G	NM_001375765.1	NP_001362694.1:p.(Lys703Arg)	NC_000007.13:g.100281012T>C	VUS	1 lab	aa15576c89
X:63445089 ASB12 G>A	X	63445089	63445089	G	A	ASB12	c.442C>T	NM_130388.4	NP_569059.3:p.(Arg148Cys)	NC_000023.10:g.63445089G>A	VUS	1 lab	aa162a2a26
11:1016719 MUC6 T>G	11	1016719	1016719	T	G	MUC6	c.6082A>C	NM_005961.3	NP_005952.2:p.(Thr2028Pro)	NC_000011.9:g.1016719T>G	VUS	1 lab	aa16e52a39
16:50765660 NOD2 T>G	16	50765660	50765660	T	G	NOD2	c.3053T>G	NM_022162.3	NP_071445.1:p.(Leu1018Arg)	NC_000016.9:g.50765660T>G	VUS	1 lab	2845518c8e
9:6645376 GLDC C>T	9	6645376	6645376	C	T	GLDC	c.124G>A	NM_000170.3	NP_000161.2:p.(Gly42Arg)	NC_000009.11:g.6645376C>T	VUS	1 lab	aa1919f91e
20:31368191 DNMT3B T>C	20	31368191	31368191	T	C	DNMT3B	c.62T>C	NM_006892.4	NP_008823.1:p.(Ile21Thr)	NC_000020.10:g.31368191T>C	(Likely) benign	1 lab	aa1c8da011
14:21899541 CHD8 C>T	14	21899541	21899541	C	T	CHD8	c.262G>A	NM_001170629.2	NP_001164100.1:p.(Glu88Lys)	NC_000014.8:g.21899541C>T	(Likely) benign	1 lab	aa1d7cb642
15:48805748 FBN1 C>T	15	48805748	48805748	C	T	FBN1	c.1586G>A	NM_000138.5	NP_000129.3:p.(Arg529Gln)	NC_000015.9:g.48805748C>T	VUS	1 lab	aa1e3d85cf
4:102783698 BANK1 T>G	4	102783698	102783698	T	G	BANK1	c.640T>G	NM_017935.5	NP_060405.5:p.(Phe214Val)	NC_000004.11:g.102783698T>G	(Likely) benign	1 lab	aa1eada830
7:44284213 CAMK2B C>T	7	44284213	44284213	C	T	CAMK2B	c.415-1087G>A	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44284213C>T	(Likely) benign	1 lab	aa1ef80b7c
17:79425367 BAHCC1 C>A	17	79425367	79425367	C	A	BAHCC1	c.5218C>A	NM_001377448.1	NP_001364377.1:p.(Pro1740Thr)	NC_000017.10:g.79425367C>A	VUS	1 lab	aa1f2a03a6
15:100882073 ADAMTS17 A>G	15	100882073	100882073	A	G	ADAMTS17	c.32T>C	NM_139057.4	NP_620688.2:p.(Val11Ala)	NC_000015.9:g.100882073A>G	(Likely) benign	1 lab	aa24ae28fc
1:5935165 NPHP4 A>T	1	5935165	5935165	A	T	NPHP4	c.2818-5T>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5935165A>T	VUS	1 lab	aa261f1cc0
10:73571202 CDH23 G>A	10	73571202	73571202	G	A	CDH23	c.9198+10G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73571202G>A	(Likely) benign	1 lab	aa26323b63
9:36246021 GNE T>C	9	36246021	36246021	T	C	GNE	c.616+7A>G	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36246021T>C	(Likely) benign	1 lab	aa26475059
19:18896463 COMP C>A	19	18896463	18896463	C	A	COMP	c.1668+20G>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896463C>A	(Likely) benign	1 lab	aa28a151ea
15:63340647 TPM1 A>G	15	63340647	63340647	A	G	TPM1				NC_000015.9:g.63340647A>G	(Likely) benign	1 lab	2849d247be
19:7696678 PET100 C>T	19	7696678	7696678	C	T	PET100	c.*236C>T	NM_001171155.2	NP_001164626.1:p.?	NC_000019.9:g.7696678C>T	(Likely) benign	1 lab	aa2a5b9132
22:28195807 MN1 C>T	22	28195807	28195807	C	T	MN1	c.725G>A	NM_002430.3	NP_002421.3:p.(Gly242Glu)	NC_000022.10:g.28195807C>T	(Likely) benign	1 lab	aa2cf93c15
11:45946079 LARGE2 A>G	11	45946079	45946079	A	G	LARGE2	c.515A>G	NM_001300721.2	NP_001287650.1:p.(Asn172Ser)	NC_000011.9:g.45946079A>G	VUS	1 lab	aa2d91699a
2:29234331 TOGARAM2 G>A	2	29234331	29234331	G	A	TOGARAM2	c.841G>A	NM_199280.4	NP_954974.2:p.(Gly281Arg)	NC_000002.11:g.29234331G>A	VUS	1 lab	aa2ec6918a
8:38285434 FGFR1 C>T	8	38285434	38285434	C	T	FGFR1	c.621+5G>A	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38285434C>T	(Likely) benign	1 lab	aa2ee8b812
10:11207584 CELF2 C>T	10	11207584	11207584	C	T	CELF2	c.210C>T	NM_001326342.2	NP_001313271.1:p.(Tyr70=)	NC_000010.10:g.11207584C>T	(Likely) benign	1 lab	aa2f2b2002
X:66937325 AR C>T	X	66937325	66937325	C	T	AR	c.2179C>T	NM_000044.6	NP_000035.2:p.(Arg727Cys)	NC_000023.10:g.66937325C>T	(Likely) benign	1 lab	aa2fcabdb3
1:19413284 UBR4 G>A	1	19413284	19413284	G	A	UBR4	c.14576C>T	NM_020765.3	NP_065816.2:p.(Thr4859Met)	NC_000001.10:g.19413284G>A	VUS	1 lab	aa30336bda
12:49436377 KMT2D G>C	12	49436377	49436377	G	C	KMT2D	c.5834C>G	NM_003482.4	NP_003473.3:p.(Pro1945Arg)	NC_000012.11:g.49436377G>C	VUS	1 lab	aa30add602
9:21838008 MTAP A>C	9	21838008	21838008	A	C	MTAP	c.449A>C	NM_002451.4	NP_002442.2:p.(Glu150Ala)	NC_000009.11:g.21838008A>C	VUS	1 lab	aa31b13df9
3:49070570 QRICH1 G>A	3	49070570	49070570	G	A	QRICH1	c.1878C>T	NM_198880.3	NP_942581.1:p.(Leu626=)	NC_000003.11:g.49070570G>A	VUS	1 lab	aa327f433a
19:47856982 DHX34 A>G	19	47856982	47856982	A	G	DHX34	c.695A>G	NM_014681.6	NP_055496.2:p.(Tyr232Cys)	NC_000019.9:g.47856982A>G	VUS	1 lab	aa377ee81b
3:125828898 ALDH1L1 G>C	3	125828898	125828898	G	C	ALDH1L1	c.2236C>G	NM_012190.4	NP_036322.2:p.(His746Asp)	NC_000003.11:g.125828898G>C	VUS	1 lab	aa3836a859
3:119530571 NR1I2 C>T	3	119530571	119530571	C	T	NR1I2	c.517C>T	NM_003889.4	NP_003880.3:p.(Arg173Trp)	NC_000003.11:g.119530571C>T	VUS	1 lab	aa3bceded2
18:46448129 SMAD7 G>A	18	46448129	46448129	G	A	SMAD7	c.894C>T	NM_005904.4	NP_005895.1:p.(Leu298=)	NC_000018.9:g.46448129G>A	(Likely) benign	1 lab	aa3cf3c209
20:6065731 FERMT1 T>C	20	6065731	6065731	T	C	FERMT1	c.1575A>G	NM_017671.5	NP_060141.3:p.(Lys525=)	NC_000020.10:g.6065731T>C	(Likely) benign	1 lab	284a10b8be
15:43256191 UBR1 T>C	15	43256191	43256191	T	C	UBR1	c.4642A>G	NM_174916.3	NP_777576.1:p.(Thr1548Ala)	NC_000015.9:g.43256191T>C	(Likely) benign	1 lab	284cf25a07
19:18893879 COMP GC>G	19	18893879	18893880	GC	G	COMP	c.2211del	NM_000095.3	NP_000086.2:p.(Arg738ValfsTer?)	NC_000019.9:g.18893880del	VUS	1 lab	aa42688229
X:22056610 PHEX C>G	X	22056610	22056610	C	G	PHEX	c.142C>G	NM_000444.6	NP_000435.3:p.(Gln48Glu)	NC_000023.10:g.22056610C>G	(Likely) benign	1 lab	aa43603136
8:41580636 ANK1 T>C	8	41580636	41580636	T	C	ANK1	c.1008+7A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41580636T>C	(Likely) benign	1 lab	335837a6a5
7:48313761 ABCA13 G>A	7	48313761	48313761	G	A	ABCA13	c.4498G>A	NM_152701.5	NP_689914.3:p.(Val1500Ile)	NC_000007.13:g.48313761G>A	VUS	1 lab	aa43dbe4b4
4:5586384 EVC2 G>A	4	5586384	5586384	G	A	EVC2	c.3023C>T	NM_147127.5	NP_667338.3:p.(Ser1008Leu)	NC_000004.11:g.5586384G>A	(Likely) benign	1 lab	aa442101d1
18:24035733 KCTD1 G>A	18	24035733	24035733	G	A	KCTD1	c.2572C>T	NM_001142730.3	NP_001136202.1:p.(Arg858Trp)	NC_000018.9:g.24035733G>A	VUS	1 lab	aa4545797a
3:53787605 CACNA1D G>A	3	53787605	53787605	G	A	CACNA1D	c.3682G>A	NM_001128840.3	NP_001122312.1:p.(Glu1228Lys)	NC_000003.11:g.53787605G>A	(Likely) benign	1 lab	aa45ad08fb
4:1806571 FGFR3 G>A	4	1806571	1806571	G	A	FGFR3	c.1287G>A	NM_000142.5	NP_000133.1:p.(Ala429=)	NC_000004.11:g.1806571G>A	(Likely) benign	1 lab	aa4614e204
5:147504322 SPINK5 C>T	5	147504322	147504322	C	T	SPINK5	c.2667-6C>T	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147504322C>T	(Likely) benign	1 lab	aa48a55533
17:18150587 FLII C>T	17	18150587	18150587	C	T	FLII	c.2572G>A	NM_002018.4	NP_002009.1:p.(Gly858Ser)	NC_000017.10:g.18150587C>T	(Likely) benign	1 lab	aa4a77d9d2
X:132352271 TFDP3 C>T	X	132352271	132352271	C	T	TFDP3	c.17G>A	NM_016521.3	NP_057605.3:p.(Ser6Asn)	NC_000023.10:g.132352271C>T	VUS	1 lab	aa4c3fb38c
6:137191047 PEX7 C>T	6	137191047	137191047	C	T	PEX7	c.653C>T	NM_000288.4	NP_000279.1:p.(Ala218Val)	NC_000006.11:g.137191047C>T	(Likely) pathogenic	1 lab	284d0a25e4
19:18976892 UPF1 G>A	19	18976892	18976892	G	A	UPF1	c.3277G>A	NM_002911.4	NP_002902.2:p.(Val1093Met)	NC_000019.9:g.18976892G>A	(Likely) benign	1 lab	aa4e78e525
20:31023598 ASXL1 C>T	20	31023598	31023598	C	T	ASXL1	c.3083C>T	NM_015338.6	NP_056153.2:p.(Ser1028Leu)	NC_000020.10:g.31023598C>T	VUS	1 lab	aa4eb9d53c
14:50734529 L2HGDH C>T	14	50734529	50734529	C	T	L2HGDH	c.1006G>A	NM_024884.3	NP_079160.1:p.(Glu336Lys)	NC_000014.8:g.50734529C>T	VUS	1 lab	aa4f1dbce4
11:823739 PNPLA2 G>C	11	823739	823739	G	C	PNPLA2	c.803G>C	NM_020376.4	NP_065109.1:p.(Arg268Pro)	NC_000011.9:g.823739G>C	(Likely) benign	1 lab	aa51d22b1f
14:77894724 VIPAS39 G>A	14	77894724	77894724	G	A	VIPAS39	c.1450C>T	NM_001193315.2	NP_001180244.1:p.(Leu484Phe)	NC_000014.8:g.77894724G>A	(Likely) benign	1 lab	aa5316346a
1:3416462 MEGF6 C>T	1	3416462	3416462	C	T	MEGF6	c.2734G>A	NM_001409.4	NP_001400.3:p.(Gly912Ser)	NC_000001.10:g.3416462C>T	(Likely) benign	1 lab	aa53ef43fe
11:130064541 ST14 G>A	11	130064541	130064541	G	A	ST14	c.1022G>A	NM_021978.4	NP_068813.1:p.(Gly341Glu)	NC_000011.9:g.130064541G>A	VUS	1 lab	aa54fb97bc
20:10653466 JAG1 C>T	20	10653466	10653466	C	T	JAG1	c.270G>A	NM_000214.3	NP_000205.1:p.(Gly90=)	NC_000020.10:g.10653466C>T	(Likely) benign	1 lab	aa55cbe9f0
19:7132200 INSR C>T	19	7132200	7132200	C	T	INSR	c.2811G>A	NM_000208.4	NP_000199.2:p.(Thr937=)	NC_000019.9:g.7132200C>T	VUS	1 lab	aa5623e973
2:152460142 NEB T>C	2	152460142	152460142	T	C	NEB	c.13204A>G	NM_001164508.2	NP_001157980.2:p.(Ser4402Gly)	NC_000002.11:g.152460142T>C	(Likely) benign	1 lab	aa565d6395
1:203154362 CHI3L1 C>A	1	203154362	203154362	C	A	CHI3L1	c.207G>T	NM_001276.4	NP_001267.2:p.(Trp69Cys)	NC_000001.10:g.203154362C>A	VUS	1 lab	aa578f0a15
19:13409430 CACNA1A C>G	19	13409430	13409430	C	G	CACNA1A	c.3017G>C	NM_001127222.2	NP_001120694.1:p.(Arg1006Pro)	NC_000019.9:g.13409430C>G	VUS	1 lab	aa5803030b
19:18895866 COMP G>A	19	18895866	18895866	G	A	COMP	c.1754C>T	NM_000095.3	NP_000086.2:p.(Thr585Met)	NC_000019.9:g.18895866G>A	(Likely) pathogenic	1 lab	aa5a100396
14:67579838 GPHN G>A	14	67579838	67579838	G	A	GPHN	c.1576G>A	NM_020806.5	NP_065857.1:p.(Val526Ile)	NC_000014.8:g.67579838G>A	VUS	1 lab	aa5b271b2c
X:16669205 S100G C>T	X	16669205	16669205	C	T	S100G	c.76C>T	NM_004057.3	NP_004048.1:p.(Gln26Ter)	NC_000023.10:g.16669205C>T	VUS	1 lab	aa5c98e06d
5:139189037 PSD2 C>A	5	139189037	139189037	C	A	PSD2	c.12C>A	NM_032289.4	NP_115665.1:p.(Asp4Glu)	NC_000005.9:g.139189037C>A	VUS	1 lab	aa5dab7fde
22:20780077 SCARF2 T>A	22	20780077	20780077	T	A	SCARF2	c.2186A>T	NM_182895.5	NP_878315.2:p.(Glu729Val)	NC_000022.10:g.20780077T>A	VUS	1 lab	aa5edef33e
6:157517337 ARID1B A>G	6	157517337	157517337	A	G	ARID1B	c.4270A>G	NM_001374828.1	NP_001361757.1:p.(Met1424Val)	NC_000006.11:g.157517337A>G	(Likely) benign	1 lab	aa5f00fe3d
13:39424135 FREM2 C>G	13	39424135	39424135	C	G	FREM2	c.6380-40C>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39424135C>G	(Likely) benign	1 lab	29e6af82b2
4:113568937 LARP7 TAAAG>T	4	113568937	113568942	TAAAG	T	LARP7	c.1091_1094del	NM_016648.4	NP_057732.2:p.(Lys364ArgfsTer12)	NC_000004.11:g.113568939_113568942del	(Likely) pathogenic	1 lab	aa5f9bd379
20:13782253 NDUFAF5 C>T	20	13782253	13782253	C	T	NDUFAF5	c.641C>T	NM_024120.5	NP_077025.2:p.(Pro214Leu)	NC_000020.10:g.13782253C>T	VUS	1 lab	aa60b45949
18:29099821 DSG2 G>T	18	29099821	29099821	G	T	DSG2	c.137G>T	NM_001943.5	NP_001934.2:p.(Arg46Leu)	NC_000018.9:g.29099821G>T	(Likely) pathogenic	1 lab	aa637a08d2
18:7042258 LAMA1 C>T	18	7042258	7042258	C	T	LAMA1	c.1156-9G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7042258C>T	(Likely) benign	1 lab	aa6535ea21
17:40273315 KAT2A T>G	17	40273315	40273315	T	G	KAT2A	c.8A>C	NM_021078.3	NP_066564.2:p.(Glu3Ala)	NC_000017.10:g.40273315T>G	VUS	1 lab	aa6611cc82
15:41769454 RTF1 G>A	15	41769454	41769454	G	A	RTF1	c.1652G>A	NM_015138.5	NP_055953.3:p.(Arg551His)	NC_000015.9:g.41769454G>A	VUS	1 lab	aa66783e7f
16:1841533 IGFALS G>A	16	1841533	1841533	G	A	IGFALS	c.886C>T	NM_004970.3	NP_004961.1:p.(Arg296Trp)	NC_000016.9:g.1841533G>A	(Likely) pathogenic	1 lab	aa66da1368
3:71821967 PROK2 C>CA	3	71821967	71821973	C	CA	PROK2	c.297dup	NM_001126128.2	NP_001119600.1:p.(Gly100TrpfsTer22)	NC_000003.11:g.71821973dup	VUS	1 lab	aa67cd301c
4:1808594 FGFR3 C>A	4	1808594	1808594	C	A	FGFR3	c.2207C>A	NM_000142.5	NP_000133.1:p.(Ser736Tyr)	NC_000004.11:g.1808594C>A	VUS	1 lab	aa6860e4b6
22:41564477 EP300 C>T	22	41564477	41564477	C	T	EP300	c.3899C>T	NM_001429.4	NP_001420.2:p.(Thr1300Ile)	NC_000022.10:g.41564477C>T	(Likely) benign	1 lab	aa6a2c06e9
16:2161225 PKD1 C>G	16	2161225	2161225	C	G	PKD1	c.3943G>C	NM_001009944.3	NP_001009944.3:p.(Ala1315Pro)	NC_000016.9:g.2161225C>G	VUS	1 lab	aa6a9c509e
10:64928305 JMJD1C T>A	10	64928305	64928305	T	A	JMJD1C	c.7423A>T	NM_032776.3	NP_116165.1:p.(Ile2475Phe)	NC_000010.10:g.64928305T>A	VUS	1 lab	aa6b143465
16:88889083 GALNS C>A	16	88889083	88889083	C	A	GALNS	c.1278G>T	NM_000512.5	NP_000503.1:p.(Gly426=)	NC_000016.9:g.88889083C>A	(Likely) benign	1 lab	aa6cd51e80
12:52755252 KRT85 G>T	12	52755252	52755252	G	T	KRT85	c.1329C>A	NM_002283.4	NP_002274.1:p.(Val443=)	NC_000012.11:g.52755252G>T	VUS	1 lab	aa6e84fa8d
X:44847383 KDM6A C>T	X	44847383	44847383	C	T	KDM6A	c.384+13423C>T	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44847383C>T	(Likely) benign	1 lab	aa6eab5a61
16:8998368 USP7 C>G	16	8998368	8998368	C	G	USP7	c.1628G>C	NM_003470.3	NP_003461.2:p.(Arg543Pro)	NC_000016.9:g.8998368C>G	VUS	1 lab	aa6f7f0e01
12:116549482 MED13L GT>G	12	116549482	116549484	GT	G	MED13L	c.311-166del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116549484del	(Likely) benign	1 lab	aa72e91660
17:59560318 TBX4 C>T	17	59560318	59560318	C	T	TBX4	c.1082C>T	NM_001321120.2	NP_001308049.1:p.(Ser361Leu)	NC_000017.10:g.59560318C>T	VUS	1 lab	aa7327cb87
X:73962977 NEXMIF G>A	X	73962977	73962977	G	A	NEXMIF	c.1415C>T	NM_001008537.3	NP_001008537.1:p.(Ser472Phe)	NC_000023.10:g.73962977G>A	VUS	1 lab	aa73950e5e
1:22206881 HSPG2 G>C	1	22206881	22206881	G	C	HSPG2	c.2170C>G	NM_005529.7	NP_005520.4:p.(Arg724Gly)	NC_000001.10:g.22206881G>C	VUS	1 lab	aa740e0032
14:100404232 EML1 T>C	14	100404232	100404232	T	C	EML1	c.2174T>C	NM_004434.3	NP_004425.2:p.(Leu725Ser)	NC_000014.8:g.100404232T>C	VUS	1 lab	aa75cff385
15:90169233 TICRR C>G	15	90169233	90169233	C	G	TICRR	c.5543C>G	NM_152259.4	NP_689472.3:p.(Thr1848Ser)	NC_000015.9:g.90169233C>G	(Likely) benign	1 lab	aa7746eaad
X:15365438 VEGFD C>T	X	15365438	15365438	C	T	VEGFD	c.786G>A	NM_004469.5	NP_004460.1:p.(Met262Ile)	NC_000023.10:g.15365438C>T	(Likely) benign	1 lab	aa788561c4
11:122774799 JHY A>G	11	122774799	122774799	A	G	JHY	c.511A>G	NM_024806.4	NP_079082.2:p.(Met171Val)	NC_000011.9:g.122774799A>G	(Likely) benign	1 lab	aa7aeadf40
11:46924448 LRP4 G>A	11	46924448	46924448	G	A	LRP4	c.85C>T	NM_002334.4	NP_002325.2:p.(Arg29Trp)	NC_000011.9:g.46924448G>A	VUS	1 lab	aa7cbfcb7d
4:1808066 FGFR3 G>A	4	1808066	1808066	G	A	FGFR3	c.2030+12G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808066G>A	(Likely) benign	1 lab	aa7dc57015
7:92731474 SAMD9 A>G	7	92731474	92731474	A	G	SAMD9	c.3937T>C	NM_017654.4	NP_060124.2:p.(Ser1313Pro)	NC_000007.13:g.92731474A>G	VUS	1 lab	aa7e071380
2:98834386 VWA3B T>G	2	98834386	98834386	T	G	VWA3B	c.1914T>G	NM_144992.5	NP_659429.4:p.(Asp638Glu)	NC_000002.11:g.98834386T>G	VUS	1 lab	aa7e9aa8e2
X:153056297 IDH3G C>T	X	153056297	153056297	C	T	IDH3G	c.91G>A	NM_004135.4	NP_004126.1:p.(Ala31Thr)	NC_000023.10:g.153056297C>T	(Likely) benign	1 lab	aa819b7a23
1:245026964 HNRNPU CCTT>C	1	245026964	245026973	CCTT	C	HNRNPU	c.643_645del	NM_031844.3	NP_114032.2:p.(Lys215del)	NC_000001.10:g.245026971_245026973del	VUS	1 lab	aa836a0c4f
11:830709 CRACR2B G>C	11	830709	830709	G	C	CRACR2B	c.782G>C	NM_001286606.2	NP_001273535.1:p.(Arg261Pro)	NC_000011.9:g.830709G>C	(Likely) benign	1 lab	aa85a7957d
6:7583239 DSP G>A	6	7583239	7583239	G	A	DSP	c.5744G>A	NM_004415.4	NP_004406.2:p.(Arg1915His)	NC_000006.11:g.7583239G>A	VUS	1 lab	d953579e60
3:48612656 COL7A1 C>T	3	48612656	48612656	C	T	COL7A1	c.6200G>A	NM_000094.4	NP_000085.1:p.(Gly2067Glu)	NC_000003.11:g.48612656C>T	(Likely) pathogenic	1 lab	2851a471cf
3:119121031 ARHGAP31 C>T	3	119121031	119121031	C	T	ARHGAP31	c.1432C>T	NM_020754.4	NP_065805.2:p.(Arg478Cys)	NC_000003.11:g.119121031C>T	(Likely) benign	1 lab	aa87ddcb6a
19:52824940 ZNF480 G>A	19	52824940	52824940	G	A	ZNF480	c.437G>A	NM_144684.4	NP_653285.2:p.(Arg146Lys)	NC_000019.9:g.52824940G>A	VUS	1 lab	aa8933a41d
4:190989281 MISSING G>C	4	190989281	190989281	G	C	MISSING				NC_000004.11:g.190989281G>C	(Likely) benign	1 lab	aa8adf2cb9
5:11364940 CTNND2 G>T	5	11364940	11364940	G	T	CTNND2	c.1240C>A	NM_001332.4	NP_001323.1:p.(Gln414Lys)	NC_000005.9:g.11364940G>T	VUS	1 lab	aa8cabed86
1:236850025 ACTN2 G>C	1	236850025	236850025	G	C	ACTN2	c.52G>C	NM_001103.4	NP_001094.1:p.(Glu18Gln)	NC_000001.10:g.236850025G>C	VUS	1 lab	aa8e84607a
19:41863853 B9D2 C>T	19	41863853	41863853	C	T	B9D2	c.163G>A	NM_030578.4	NP_085055.2:p.(Ala55Thr)	NC_000019.9:g.41863853C>T	VUS	1 lab	aa8fccc4c4
2:219483536 PLCD4 G>A	2	219483536	219483536	G	A	PLCD4	c.410+6G>A	NM_032726.4	NP_116115.1:p.?	NC_000002.11:g.219483536G>A	(Likely) benign	1 lab	aa902425c9
5:149754974 TCOF1 G>A	5	149754974	149754974	G	A	TCOF1	c.1561G>A	NM_001371623.1	NP_001358552.1:p.(Ala521Thr)	NC_000005.9:g.149754974G>A	(Likely) benign	1 lab	aa90b1bde7
1:156105677 LMNA C>T	1	156105677	156105677	C	T	LMNA	c.937-15C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105677C>T	(Likely) benign	1 lab	aa90d2f801
12:33030818 PKP2 C>T	12	33030818	33030818	C	T	PKP2	c.996G>A	NM_004572.3	NP_004563.2:p.(Leu332=)	NC_000012.11:g.33030818C>T	(Likely) benign	1 lab	29e72c3c83
17:62041036 SCN4A C>T	17	62041036	62041036	C	T	SCN4A	c.1602G>A	NM_000334.4	NP_000325.4:p.(Met534Ile)	NC_000017.10:g.62041036C>T	(Likely) benign	1 lab	aa91c53a53
3:182812352 MCCC1 GC>AA	3	182812352	182812353	GC	AA	MCCC1	c.130_131delinsTT	NM_020166.5	NP_064551.3:p.(Ala44Phe)	NC_000003.11:g.182812352_182812353delinsAA	VUS	1 lab	aa920c1cd1
2:238283461 COL6A3 G>A	2	238283461	238283461	G	A	COL6A3	c.3273C>T	NM_004369.4	NP_004360.2:p.(Val1091=)	NC_000002.11:g.238283461G>A	(Likely) benign	1 lab	aa92410b02
12:121469414 OASL G>A	12	121469414	121469414	G	A	OASL	c.488C>T	NM_003733.4	NP_003724.1:p.(Ser163Phe)	NC_000012.11:g.121469414G>A	VUS	1 lab	aa92f050d3
2:108496538 RGPD4 G>A	2	108496538	108496538	G	A	RGPD4	c.5039G>A	NM_182588.3	NP_872394.2:p.(Ser1680Asn)	NC_000002.11:g.108496538G>A	(Likely) benign	1 lab	aa952d45fb
12:106890588 POLR3B AC>A	12	106890588	106890589	AC	A	POLR3B	c.2877del	NM_018082.6	NP_060552.4:p.(Tyr960ThrfsTer10)	NC_000012.11:g.106890589del	VUS	1 lab	aa954448df
1:152278772 FLG G>A	1	152278772	152278772	G	A	FLG	c.8590C>T	NM_002016.2	NP_002007.1:p.(His2864Tyr)	NC_000001.10:g.152278772G>A	(Likely) benign	1 lab	aa96577716
16:89261535 CDH15 T>C	16	89261535	89261535	T	C	CDH15	c.2417T>C	NM_004933.3	NP_004924.1:p.(Leu806Pro)	NC_000016.9:g.89261535T>C	(Likely) benign	1 lab	aa972b6c1f
12:46211513 ARID2 A>AC	12	46211513	46211514	A	AC	ARID2	c.479_480insC	NM_152641.4	NP_689854.2:p.(Lys160AsnfsTer13)	NC_000012.11:g.46211513_46211514insC	(Likely) pathogenic	1 lab	28538d2fce
10:101980355 CHUK A>G	10	101980355	101980355	A	G	CHUK	c.464T>C	NM_001278.5	NP_001269.3:p.(Val155Ala)	NC_000010.10:g.101980355A>G	(Likely) benign	1 lab	aa988bdd79
14:105419330 AHNAK2 A>G	14	105419330	105419330	A	G	AHNAK2	c.2458T>C	NM_138420.4	NP_612429.2:p.(Ser820Pro)	NC_000014.8:g.105419330A>G	(Likely) benign	1 lab	aa98f3dcaf
X:21674777 KLHL34 G>A	X	21674777	21674777	G	A	KLHL34	c.1130C>T	NM_153270.3	NP_695002.1:p.(Ser377Phe)	NC_000023.10:g.21674777G>A	VUS	1 lab	aa9968353d
9:124089771 GSN G>A	9	124089771	124089771	G	A	GSN	c.1762+11G>A	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124089771G>A	VUS	1 lab	aab8f31ca3
1:43908103 SZT2 C>T	1	43908103	43908103	C	T	SZT2	c.7804-10C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43908103C>T	(Likely) benign	1 lab	29e9af29db
2:108443528 RGPD4 CG>C	2	108443528	108443529	CG	C	RGPD4	c.60del	NM_182588.3	NP_872394.2:p.(Ser21ArgfsTer69)	NC_000002.11:g.108443529del	(Likely) benign	1 lab	aa99ab7e1b
14:75514863 MLH3 T>C	14	75514863	75514863	T	C	MLH3	c.1496A>G	NM_001040108.2	NP_001035197.1:p.(Asn499Ser)	NC_000014.8:g.75514863T>C	VUS	1 lab	aa99b21540
2:73799821 ALMS1 G>A	2	73799821	73799821	G	A	ALMS1	c.10817G>A	NM_001378454.1	NP_001365383.1:p.(Arg3606Gln)	NC_000002.11:g.73799821G>A	VUS	1 lab	aa9a43ae19
4:85687026 WDFY3 T>C	4	85687026	85687026	T	C	WDFY3	c.5125A>G	NM_014991.6	NP_055806.2:p.(Ser1709Gly)	NC_000004.11:g.85687026T>C	VUS	1 lab	28557204ef
2:48059591 FBXO11 G>A	2	48059591	48059591	G	A	FBXO11	c.1295C>T	NM_001190274.2	NP_001177203.1:p.(Ala432Val)	NC_000002.11:g.48059591G>A	VUS	1 lab	2856fed77c
19:13395952 CACNA1A C>T	19	13395952	13395952	C	T	CACNA1A	c.3622G>A	NM_001127222.2	NP_001120694.1:p.(Asp1208Asn)	NC_000019.9:g.13395952C>T	VUS	1 lab	aaa10cfba9
8:118832021 EXT1 G>C	8	118832021	118832021	G	C	EXT1	c.1430C>G	NM_000127.3	NP_000118.2:p.(Pro477Arg)	NC_000008.10:g.118832021G>C	(Likely) benign	1 lab	aaa124fc6c
19:13002774 GCDH C>G	19	13002774	13002774	C	G	GCDH	c.257C>G	NM_000159.4	NP_000150.1:p.(Ala86Gly)	NC_000019.9:g.13002774C>G	(Likely) pathogenic	1 lab	aaa144874d
2:69581631 GFPT1 G>A	2	69581631	69581631	G	A	GFPT1	c.675C>T	NM_001244710.2	NP_001231639.1:p.(Leu225=)	NC_000002.11:g.69581631G>A	(Likely) benign	1 lab	aaa240905b
1:52859480 ORC1 G>A	1	52859480	52859480	G	A	ORC1	c.722-5C>T	NM_004153.4	NP_004144.2:p.?	NC_000001.10:g.52859480G>A	(Likely) benign	1 lab	aaa3b0ba1a
9:130580633 ENG G>A	9	130580633	130580633	G	A	ENG	c.1452C>T	NM_001114753.3	NP_001108225.1:p.(Ser484=)	NC_000009.11:g.130580633G>A	(Likely) benign	1 lab	aaa5d29b64
7:152084656 KMT2C C>T	7	152084656	152084656	C	T	KMT2C	c.162-28896G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152084656C>T	(Likely) benign	1 lab	aaa603a6c1
2:3660939 COLEC11 C>T	2	3660939	3660939	C	T	COLEC11	c.169C>T	NM_024027.5	NP_076932.1:p.(Arg57Trp)	NC_000002.11:g.3660939C>T	VUS	1 lab	aaa6812e2e
3:184044759 EIF4G1 G>C	3	184044759	184044759	G	C	EIF4G1	c.3419G>C	NM_182917.4	NP_886553.3:p.(Arg1140Pro)	NC_000003.11:g.184044759G>C	VUS	1 lab	2857a5ccfa
22:25007202 GGT1 A>G	22	25007202	25007202	A	G	GGT1	c.154A>G	NM_001288833.2	NP_001275762.1:p.(Lys52Glu)	NC_000022.10:g.25007202A>G	(Likely) benign	1 lab	aaa7057409
6:64431066 EYS A>T	6	64431066	64431066	A	T	EYS	c.8861T>A	NM_001142800.2	NP_001136272.1:p.(Phe2954Tyr)	NC_000006.11:g.64431066A>T	VUS	1 lab	aaa71dbbbc
7:98786047 KPNA7 G>C	7	98786047	98786047	G	C	KPNA7	c.776C>G	NM_001145715.3	NP_001139187.1:p.(Ser259Trp)	NC_000007.13:g.98786047G>C	VUS	1 lab	aaa7c4a283
20:35882700 GHRH C>T	20	35882700	35882700	C	T	GHRH	c.221G>A	NM_021081.6	NP_066567.1:p.(Arg74Gln)	NC_000020.10:g.35882700C>T	VUS	1 lab	aaab083695
11:17408886 KCNJ11 C>G	11	17408886	17408886	C	G	KCNJ11	c.753G>C	NM_000525.4	NP_000516.3:p.(Leu251=)	NC_000011.9:g.17408886C>G	(Likely) benign	1 lab	aaab094fd7
12:6687185 CHD4 C>T	12	6687185	6687185	C	T	CHD4	c.5228+10G>A	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6687185C>T	(Likely) benign	1 lab	aaacffc264
17:7534020 SHBG C>T	17	7534020	7534020	C	T	SHBG	c.226C>T	NM_001040.5	NP_001031.2:p.(Arg76Ter)	NC_000017.10:g.7534020C>T	VUS	1 lab	aaae85389b
6:111714154 REV3L C>T	6	111714154	111714154	C	T	REV3L	c.587G>A	NM_001372078.1	NP_001359007.1:p.(Gly196Glu)	NC_000006.11:g.111714154C>T	VUS	1 lab	aab0d5073c
11:57505879 TMX2 T>C	11	57505879	57505879	T	C	TMX2	c.418T>C	NM_015959.4	NP_057043.1:p.(Tyr140His)	NC_000011.9:g.57505879T>C	VUS	1 lab	aab0fecd31
15:90191605 KIF7 C>T	15	90191605	90191605	C	T	KIF7	c.1324G>A	NM_198525.3	NP_940927.2:p.(Asp442Asn)	NC_000015.9:g.90191605C>T	VUS	1 lab	aab438d408
12:9008189 A2ML1 G>A	12	9008189	9008189	G	A	A2ML1	c.2848+1G>A	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9008189G>A	VUS	1 lab	aab68443b9
1:43395555 SLC2A1 C>T	1	43395555	43395555	C	T	SLC2A1	c.668G>A	NM_006516.4	NP_006507.2:p.(Arg223Gln)	NC_000001.10:g.43395555C>T	(Likely) benign	1 lab	aab74be1ff
X:106069354 TBC1D8B T>C	X	106069354	106069354	T	C	TBC1D8B	c.922T>C	NM_017752.3	NP_060222.2:p.(Trp308Arg)	NC_000023.10:g.106069354T>C	(Likely) benign	1 lab	aab7974a8a
8:61765895 CHD7 A>G	8	61765895	61765895	A	G	CHD7	c.6611A>G	NM_017780.4	NP_060250.2:p.(Lys2204Arg)	NC_000008.10:g.61765895A>G	VUS	1 lab	aab9e1ac90
16:2814914 SRRM2 C>T	16	2814914	2814914	C	T	SRRM2	c.4385C>T	NM_016333.4	NP_057417.3:p.(Ser1462Phe)	NC_000016.9:g.2814914C>T	(Likely) benign	1 lab	aabbe2c9b1
15:48829905 FBN1 G>A	15	48829905	48829905	G	A	FBN1	c.639C>T	NM_000138.5	NP_000129.3:p.(Val213=)	NC_000015.9:g.48829905G>A	(Likely) benign	1 lab	aabce2d5da
5:125896815 ALDH7A1 C>A	5	125896815	125896815	C	A	ALDH7A1	c.873G>T	NM_001182.5	NP_001173.2:p.(Gly291=)	NC_000005.9:g.125896815C>A	VUS	1 lab	aabdc0f4f7
9:140918146 CACNA1B A>C	9	140918146	140918146	A	C	CACNA1B	c.2951A>C	NM_000718.4	NP_000709.1:p.(Lys984Thr)	NC_000009.11:g.140918146A>C	(Likely) benign	1 lab	aabe7b7c4d
17:41738730 MEOX1 G>A	17	41738730	41738730	G	A	MEOX1	c.173C>T	NM_004527.4	NP_004518.1:p.(Ala58Val)	NC_000017.10:g.41738730G>A	VUS	1 lab	aabe7dffd3
10:71649180 COL13A1 G>A	10	71649180	71649180	G	A	COL13A1	c.587G>A	NM_001368882.1	NP_001355811.1:p.(Gly196Glu)	NC_000010.10:g.71649180G>A	VUS	1 lab	aabf1b153f
21:46012363 TSPEAR C>T	21	46012363	46012363	C	T	TSPEAR	c.83-24474G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46012363C>T	VUS	1 lab	aabfacb8f8
2:48685276 PPP1R21 ATCT>A	2	48685276	48685285	ATCT	A	PPP1R21	c.292_294del	NM_001135629.3	NP_001129101.1:p.(Ser98del)	NC_000002.11:g.48685283_48685285del	VUS	1 lab	aabfc602a4
12:49445156 KMT2D CAGGTGTGGCTCCTCAGCCTGCGGAGAT>C	12	49445156	49445199	CAGGTGTGGCTCCTCAGCCTGCGGAGAT	C	KMT2D	c.2283_2309del	NM_003482.4	NP_003473.3:p.(Ala765_Gln773del)	NC_000012.11:g.49445173_49445199del	(Likely) benign	1 lab	aac017d20d
3:143212543 SLC9A9 G>A	3	143212543	143212543	G	A	SLC9A9	c.1267C>T	NM_173653.4	NP_775924.1:p.(Arg423Ter)	NC_000003.11:g.143212543G>A	VUS	1 lab	aac2001988
2:54040140 ERLEC1 C>T	2	54040140	54040140	C	T	ERLEC1	c.1156C>T	NM_015701.5	NP_056516.2:p.(His386Tyr)	NC_000002.11:g.54040140C>T	VUS	1 lab	aac3092304
10:46252586 WASHC2C A>C	10	46252586	46252586	A	C	WASHC2C	c.1547A>C	NM_001330074.2	NP_001317003.1:p.(Lys516Thr)	NC_000010.10:g.46252586A>C	(Likely) benign	1 lab	aac3245fda
9:116151527 ALAD G>A	9	116151527	116151527	G	A	ALAD	c.802-141C>T	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116151527G>A	(Likely) benign	1 lab	29edb67c83
16:4387382 GLIS2 G>A	16	4387382	4387382	G	A	GLIS2	c.1432G>A	NM_032575.3	NP_115964.2:p.(Asp478Asn)	NC_000016.9:g.4387382G>A	VUS	1 lab	aac3eaf2e2
10:99215803 ZDHHC16 T>C	10	99215803	99215803	T	C	ZDHHC16	c.1019+2T>C	NM_198046.3	NP_932163.1:p.?	NC_000010.10:g.99215803T>C	VUS	1 lab	aac40379a8
17:42290219 UBTF C>T	17	42290219	42290219	C	T	UBTF	c.628G>A	NM_014233.4	NP_055048.1:p.(Glu210Lys)	NC_000017.10:g.42290219C>T	(Likely) pathogenic	1 lab	28597119af
22:51159852 SHANK3 C>T	22	51159852	51159852	C	T	SHANK3	c.3816C>T	NM_001372044.1	NP_001358973.1:p.(Ser1272=)	NC_000022.10:g.51159852C>T	(Likely) benign	1 lab	29efbc15ea
13:100634777 ZIC2 G>T	13	100634777	100634777	G	T	ZIC2	c.459G>T	NM_007129.5	NP_009060.2:p.(Ala153=)	NC_000013.10:g.100634777G>T	(Likely) benign	1 lab	285ad02464
17:11713638 DNAH9 G>C	17	11713638	11713638	G	C	DNAH9	c.8659G>C	NM_001372.4	NP_001363.2:p.(Val2887Leu)	NC_000017.10:g.11713638G>C	VUS	1 lab	aac51e32de
7:43687110 COA1 G>A	7	43687110	43687110	G	A	COA1	c.115+24C>T	NM_018224.4	NP_060694.2:p.?	NC_000007.13:g.43687110G>A	(Likely) benign	1 lab	aac5b7307f
9:140099601 TMEM203 G>GT	9	140099601	140099602	G	GT	TMEM203	c.265dup	NM_053045.2	NP_444273.1:p.(Thr89AsnfsTer65)	NC_000009.11:g.140099602dup	VUS	1 lab	aac82417d3
16:83948745 MLYCD T>A	16	83948745	83948745	T	A	MLYCD	c.1133T>A	NM_012213.3	NP_036345.2:p.(Leu378His)	NC_000016.9:g.83948745T>A	VUS	1 lab	aac8c7cd48
8:28574618 EXTL3 G>T	8	28574618	28574618	G	T	EXTL3	c.1042G>T	NM_001440.4	NP_001431.1:p.(Glu348Ter)	NC_000008.10:g.28574618G>T	(Likely) pathogenic	1 lab	aaca8c1238
3:44890051 KIF15 G>GT	3	44890051	44890052	G	GT	KIF15	c.3806+2dup	NM_020242.3	NP_064627.1:p.?	NC_000003.11:g.44890052dup	VUS	1 lab	ab0239f61b
19:1467862 APC2 C>A	19	1467862	1467862	C	A	APC2	c.4562C>A	NM_005883.3	NP_005874.1:p.(Ala1521Asp)	NC_000019.9:g.1467862C>A	(Likely) benign	1 lab	aacb355acd
11:86662458 FZD4 G>C	11	86662458	86662458	G	C	FZD4	c.1340C>G	NM_012193.4	NP_036325.2:p.(Pro447Arg)	NC_000011.9:g.86662458G>C	VUS	1 lab	aacc375bff
22:40662324 TNRC6B G>T	22	40662324	40662324	G	T	TNRC6B	c.2090G>T	NM_001162501.2	NP_001155973.1:p.(Gly697Val)	NC_000022.10:g.40662324G>T	(Likely) benign	1 lab	285bc9498d
4:158074032 GLRB A>G	4	158074032	158074032	A	G	GLRB	c.1067A>G	NM_000824.5	NP_000815.1:p.(Asn356Ser)	NC_000004.11:g.158074032A>G	VUS	1 lab	aacf71a7a0
21:46897408 COL18A1 C>G	21	46897408	46897408	C	G	COL18A1	c.1005+7C>G	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46897408C>G	(Likely) benign	1 lab	aad0cd7729
17:40354434 STAT5B C>T	17	40354434	40354434	C	T	STAT5B	c.2161G>A	NM_012448.4	NP_036580.2:p.(Gly721Ser)	NC_000017.10:g.40354434C>T	(Likely) benign	1 lab	aad0fa5811
3:172166058 GHSR G>A	3	172166058	172166058	G	A	GHSR	c.146C>T	NM_198407.2	NP_940799.1:p.(Thr49Ile)	NC_000003.11:g.172166058G>A	(Likely) benign	1 lab	aad12302e3
1:22178344 HSPG2 C>T	1	22178344	22178344	C	T	HSPG2	c.6946G>A	NM_005529.7	NP_005520.4:p.(Gly2316Ser)	NC_000001.10:g.22178344C>T	VUS	1 lab	aad15689a7
17:40725379 PSMC3IP A>T	17	40725379	40725379	A	T	PSMC3IP	c.487T>A	NM_016556.4	NP_057640.1:p.(Tyr163Asn)	NC_000017.10:g.40725379A>T	(Likely) benign	1 lab	aad2b8f9d7
3:38888255 SCN11A G>A	3	38888255	38888255	G	A	SCN11A	c.5306C>T	NM_001349253.2	NP_001336182.1:p.(Pro1769Leu)	NC_000003.11:g.38888255G>A	VUS	1 lab	aad2d21217
9:33472073 NOL6 CCTT>C	9	33472073	33472084	CCTT	C	NOL6	c.304_306del	NM_022917.5	NP_075068.2:p.(Lys102del)	NC_000009.11:g.33472082_33472084del	(Likely) benign	1 lab	aad6124149
14:103438459 CDC42BPB T>C	14	103438459	103438459	T	C	CDC42BPB	c.1681A>G	NM_006035.4	NP_006026.3:p.(Lys561Glu)	NC_000014.8:g.103438459T>C	VUS	1 lab	aad6e5e38c
2:175624287 CHRNA1 G>A	2	175624287	175624287	G	A	CHRNA1	c.118C>T	NM_000079.4	NP_000070.1:p.(Arg40Trp)	NC_000002.11:g.175624287G>A	VUS	1 lab	aad79fe88d
1:32050941 TINAGL1 C>A	1	32050941	32050941	C	A	TINAGL1	c.1047C>A	NM_022164.3	NP_071447.1:p.(Asn349Lys)	NC_000001.10:g.32050941C>A	(Likely) benign	1 lab	aad822732e
9:442722 DOCK8 T>C	9	442722	442722	T	C	DOCK8	c.5491-705T>C	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.442722T>C	(Likely) benign	1 lab	3361a24aba
3:58271131 ABHD6 T>C	3	58271131	58271131	T	C	ABHD6	c.788T>C	NM_001320126.2	NP_001307055.1:p.(Met263Thr)	NC_000003.11:g.58271131T>C	VUS	1 lab	aad9a3adad
19:50735216 MYH14 T>C	19	50735216	50735216	T	C	MYH14	c.1003T>C	NM_001145809.2	NP_001139281.1:p.(Tyr335His)	NC_000019.9:g.50735216T>C	VUS	1 lab	aadb304d09
2:233114059 DIS3L2 A>G	2	233114059	233114059	A	G	DIS3L2	c.1425+3A>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233114059A>G	(Likely) benign	1 lab	aadb6a793a
17:61781101 STRADA C>T	17	61781101	61781101	C	T	STRADA	c.1154G>A	NM_001003787.4	NP_001003787.1:p.(Arg385His)	NC_000017.10:g.61781101C>T	VUS	1 lab	aadc614c47
1:237794779 RYR2 C>T	1	237794779	237794779	C	T	RYR2	c.6493C>T	NM_001035.3	NP_001026.2:p.(Leu2165=)	NC_000001.10:g.237794779C>T	(Likely) benign	1 lab	aadcb633fb
5:37167142 CPLANE1 G>C	5	37167142	37167142	G	C	CPLANE1	c.7400+7C>G	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37167142G>C	(Likely) benign	1 lab	aaddb20242
12:5153857 KCNA5 G>A	12	5153857	5153857	G	A	KCNA5	c.544G>A	NM_002234.4	NP_002225.2:p.(Gly182Arg)	NC_000012.11:g.5153857G>A	VUS	1 lab	aaddb24854
X:37027219 FAM47C C>T	X	37027219	37027219	C	T	FAM47C	c.736C>T	NM_001013736.3	NP_001013758.1:p.(Leu246Phe)	NC_000023.10:g.37027219C>T	(Likely) benign	1 lab	aaddf89c58
5:145508317 LARS1 G>T	5	145508317	145508317	G	T	LARS1	c.2798C>A	NM_020117.11	NP_064502.9:p.(Pro933His)	NC_000005.9:g.145508317G>T	VUS	1 lab	aade48a277
12:14940369 WBP11 G>A	12	14940369	14940369	G	A	WBP11	c.1556C>T	NM_016312.3	NP_057396.1:p.(Pro519Leu)	NC_000012.11:g.14940369G>A	(Likely) benign	1 lab	aadfc8e509
16:3820855 CREBBP T>C	16	3820855	3820855	T	C	CREBBP	c.2596A>G	NM_004380.3	NP_004371.2:p.(Met866Val)	NC_000016.9:g.3820855T>C	(Likely) benign	1 lab	aae3c17c91
7:31014673 GHRHR T>C	7	31014673	31014673	T	C	GHRHR	c.882+18T>C	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31014673T>C	(Likely) benign	1 lab	aae3c5c74d
9:128025807 GAPVD1 GT>G	9	128025807	128025820	GT	G	GAPVD1	c.-199+1582del	NM_001282680.3	NP_001269609.1:p.?	NC_000009.11:g.128025820del	(Likely) benign	1 lab	aae3c823f0
20:30137054 HM13 TGGAG>T	20	30137054	30137058	TGGAG	T	HM13	c.586_589del	NM_178581.3	NP_848696.1:p.(Gly196Ter)	NC_000020.10:g.30137055_30137058del	VUS	1 lab	aae4f64464
15:89395269 ACAN G>T	15	89395269	89395269	G	T	ACAN	c.2266+5G>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89395269G>T	VUS	1 lab	aae7d1f4a2
X:13756995 OFD1 A>G	X	13756995	13756995	A	G	OFD1	c.343A>G	NM_003611.3	NP_003602.1:p.(Ile115Val)	NC_000023.10:g.13756995A>G	VUS	1 lab	aae84c65ae
4:186068115 SLC25A4 AAT>A	4	186068115	186068119	AAT	A	SLC25A4	c.890_891del	NM_001151.4	NP_001142.2:p.(Tyr297CysfsTer4)	NC_000004.11:g.186068118_186068119del	(Likely) pathogenic	1 lab	aae8757682
X:34961289 FAM47B G>A	X	34961289	34961289	G	A	FAM47B	c.341G>A	NM_152631.3	NP_689844.2:p.(Arg114Gln)	NC_000023.10:g.34961289G>A	VUS	1 lab	aae8d76b15
4:72205023 SLC4A4 C>T	4	72205023	72205023	C	T	SLC4A4	c.254-64C>T	NM_001098484.3	NP_001091954.1:p.?	NC_000004.11:g.72205023C>T	(Likely) benign	1 lab	aae8f7f5da
15:79092527 ADAMTS7 C>G	15	79092527	79092527	C	G	ADAMTS7	c.456+7G>C	NM_014272.5	NP_055087.2:p.?	NC_000015.9:g.79092527C>G	VUS	1 lab	aae9d52e8b
6:117237458 RFX6 G>C	6	117237458	117237458	G	C	RFX6	c.953G>C	NM_173560.4	NP_775831.2:p.(Cys318Ser)	NC_000006.11:g.117237458G>C	VUS	1 lab	aaea1d8a00
1:19200965 ALDH4A1 C>T	1	19200965	19200965	C	T	ALDH4A1	c.1571G>A	NM_003748.4	NP_003739.2:p.(Arg524Gln)	NC_000001.10:g.19200965C>T	VUS	1 lab	aaeae0c132
19:50868462 NAPSA G>A	19	50868462	50868462	G	A	NAPSA	c.83+334C>T	NM_004851.3	NP_004842.1:p.?	NC_000019.9:g.50868462G>A	VUS	1 lab	aaeb3d8ed1
14:68233156 ZFYVE26 G>A	14	68233156	68233156	G	A	ZFYVE26	c.5799C>T	NM_015346.4	NP_056161.2:p.(Ser1933=)	NC_000014.8:g.68233156G>A	(Likely) benign	1 lab	aaec8c0e48
14:74969412 LTBP2 A>G	14	74969412	74969412	A	G	LTBP2	c.5114T>C	NM_000428.3	NP_000419.1:p.(Leu1705Pro)	NC_000014.8:g.74969412A>G	(Likely) benign	1 lab	aaed1c41a4
17:33491046 UNC45B G>T	17	33491046	33491046	G	T	UNC45B	c.1012G>T	NM_001267052.2	NP_001253981.1:p.(Val338Phe)	NC_000017.10:g.33491046G>T	VUS	1 lab	aaed3421bb
2:200233433 SATB2 G>GA	2	200233433	200233443	G	GA	SATB2	c.598-4dup	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200233443dup	(Likely) benign	1 lab	aaefed795f
4:56818373 CEP135 C>T	4	56818373	56818373	C	T	CEP135	c.77C>T	NM_025009.5	NP_079285.2:p.(Thr26Ile)	NC_000004.11:g.56818373C>T	(Likely) benign	1 lab	aaf0ddceb1
X:17024456 REPS2 G>T	X	17024456	17024456	G	T	REPS2	c.386G>T	NM_004726.3	NP_004717.2:p.(Ser129Ile)	NC_000023.10:g.17024456G>T	VUS	1 lab	aaf4339d60
16:71171142 HYDIN T>C	16	71171142	71171142	T	C	HYDIN	c.955A>G	NM_001270974.2	NP_001257903.1:p.(Ile319Val)	NC_000016.9:g.71171142T>C	(Likely) benign	1 lab	aaf59e3ab2
1:5940293 NPHP4 G>A	1	5940293	5940293	G	A	NPHP4	c.2492C>T	NM_015102.5	NP_055917.1:p.(Pro831Leu)	NC_000001.10:g.5940293G>A	(Likely) benign	1 lab	aaf6897550
11:60229857 MS4A1 C>T	11	60229857	60229857	C	T	MS4A1	c.10C>T	NM_152866.3	NP_690605.1:p.(Pro4Ser)	NC_000011.9:g.60229857C>T	VUS	1 lab	285c80730f
13:28602309 FLT3 G>C	13	28602309	28602309	G	C	FLT3	c.2053+6C>G	NM_004119.3	NP_004110.2:p.?	NC_000013.10:g.28602309G>C	VUS	1 lab	aaf6e1b457
6:51907720 PKHD1 C>A	6	51907720	51907720	C	A	PKHD1	c.3034G>T	NM_138694.4	NP_619639.3:p.(Asp1012Tyr)	NC_000006.11:g.51907720C>A	(Likely) benign	1 lab	aaf724c0a3
10:74128065 MICU1 C>T	10	74128065	74128065	C	T	MICU1	c.1319G>A	NM_001195518.2	NP_001182447.1:p.(Arg440Gln)	NC_000010.10:g.74128065C>T	VUS	1 lab	aaf8432b6e
1:151396443 POGZ C>T	1	151396443	151396443	C	T	POGZ	c.1505G>A	NM_015100.4	NP_055915.2:p.(Arg502Lys)	NC_000001.10:g.151396443C>T	(Likely) benign	1 lab	aaf894804f
4:6594997 MAN2B2 A>G	4	6594997	6594997	A	G	MAN2B2	c.778A>G	NM_015274.3	NP_056089.1:p.(Asn260Asp)	NC_000004.11:g.6594997A>G	VUS	1 lab	aaf9375a02
9:135210013 SETX T>C	9	135210013	135210013	T	C	SETX	c.820A>G	NM_015046.7	NP_055861.3:p.(Met274Val)	NC_000009.11:g.135210013T>C	VUS	1 lab	aafb0e88da
19:50155939 SCAF1 G>A	19	50155939	50155939	G	A	SCAF1	c.2293G>A	NM_021228.3	NP_067051.2:p.(Glu765Lys)	NC_000019.9:g.50155939G>A	VUS	1 lab	aafc2d11df
X:63488525 MTMR8 G>T	X	63488525	63488525	G	T	MTMR8	c.2007C>A	NM_017677.4	NP_060147.2:p.(Asn669Lys)	NC_000023.10:g.63488525G>T	(Likely) benign	1 lab	aafc5d6f5a
20:44054282 PIGT C>T	20	44054282	44054282	C	T	PIGT	c.1553C>T	NM_015937.6	NP_057021.2:p.(Pro518Leu)	NC_000020.10:g.44054282C>T	VUS	1 lab	aafdfc56c2
6:29640770 ZFP57 G>C	6	29640770	29640770	G	C	ZFP57	c.1118C>G	NM_001109809.5	NP_001103279.2:p.(Ser373Cys)	NC_000006.11:g.29640770G>C	(Likely) benign	1 lab	aafe856d0f
22:46806316 CELSR1 C>T	22	46806316	46806316	C	T	CELSR1	c.4912G>A	NM_001378328.1	NP_001365257.1:p.(Ala1638Thr)	NC_000022.10:g.46806316C>T	VUS	1 lab	aafe95fb47
7:87780567 ADAM22 T>C	7	87780567	87780567	T	C	ADAM22	c.1618-5T>C	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87780567T>C	(Likely) benign	1 lab	aafeed7802
13:73468050 PIBF1 G>A	13	73468050	73468050	G	A	PIBF1	c.1451G>A	NM_006346.4	NP_006337.2:p.(Cys484Tyr)	NC_000013.10:g.73468050G>A	VUS	1 lab	aafef9e538
2:183902772 NCKAP1 A>T	2	183902772	183902772	A	T	NCKAP1	c.56T>A	NM_013436.5	NP_038464.1:p.(Ile19Asn)	NC_000002.11:g.183902772A>T	VUS	1 lab	aaffd0e07f
11:64527211 PYGM A>C	11	64527211	64527211	A	C	PYGM	c.160T>G	NM_005609.4	NP_005600.1:p.(Phe54Val)	NC_000011.9:g.64527211A>C	VUS	1 lab	ab01d5905e
16:88792742 PIEZO1 G>A	16	88792742	88792742	G	A	PIEZO1	c.3918C>T	NM_001142864.4	NP_001136336.2:p.(Tyr1306=)	NC_000016.9:g.88792742G>A	(Likely) benign	1 lab	29f6f0cd8a
18:31323639 ASXL3 CT>C	18	31323639	31323641	CT	C	ASXL3	c.3829del	NM_030632.3	NP_085135.1:p.(Cys1277ValfsTer3)	NC_000018.9:g.31323641del	VUS	1 lab	ab03ddb367
2:234235820 SAG C>T	2	234235820	234235820	C	T	SAG	c.489C>T	NM_000541.5	NP_000532.2:p.(Ala163=)	NC_000002.11:g.234235820C>T	(Likely) benign	1 lab	285f6ac679
14:74968252 LTBP2 C>T	14	74968252	74968252	C	T	LTBP2	c.5212G>A	NM_000428.3	NP_000419.1:p.(Gly1738Ser)	NC_000014.8:g.74968252C>T	VUS	1 lab	ab0786374f
11:125851179 CDON C>G	11	125851179	125851179	C	G	CDON	c.3041G>C	NM_001378964.1	NP_001365893.1:p.(Gly1014Ala)	NC_000011.9:g.125851179C>G	VUS	1 lab	ab0b11d026
X:54265408 WNK3 C>G	X	54265408	54265408	C	G	WNK3	c.3776G>C	NM_020922.5	NP_065973.2:p.(Ser1259Thr)	NC_000023.10:g.54265408C>G	VUS	1 lab	ab0b7f0722
17:48270027 COL1A1 C>T	17	48270027	48270027	C	T	COL1A1	c.1903G>A	NM_000088.4	NP_000079.2:p.(Gly635Ser)	NC_000017.10:g.48270027C>T	(Likely) pathogenic	1 lab	2860225212
9:73399103 TRPM3 G>C	9	73399103	73399103	G	C	TRPM3	c.1066C>G	NM_001366145.2	NP_001353074.1:p.(Pro356Ala)	NC_000009.11:g.73399103G>C	VUS	1 lab	ab0c6d70ec
2:240029874 HDAC4 C>T	2	240029874	240029874	C	T	HDAC4	c.1984G>A	NM_001378414.1	NP_001365343.1:p.(Val662Met)	NC_000002.11:g.240029874C>T	(Likely) benign	1 lab	ab0c8930cd
12:112617097 HECTD4 C>T	12	112617097	112617097	C	T	HECTD4	c.11092G>A	NM_001388303.1	NP_001375232.1:p.(Val3698Ile)	NC_000012.11:g.112617097C>T	VUS	1 lab	ab0c9b015b
17:78337557 RNF213 G>A	17	78337557	78337557	G	A	RNF213	c.11717G>A	NM_001256071.3	NP_001243000.2:p.(Gly3906Glu)	NC_000017.10:g.78337557G>A	VUS	1 lab	ab0e1bddbf
19:33639704 WDR88 C>T	19	33639704	33639704	C	T	WDR88	c.567C>T	NM_173479.4	NP_775750.3:p.(Ile189=)	NC_000019.9:g.33639704C>T	(Likely) benign	1 lab	ab0f598f26
6:32021415 TNXB G>C	6	32021415	32021415	G	C	TNXB	c.8535C>G	NM_019105.8	NP_061978.6:p.(Leu2845=)	NC_000006.11:g.32021415G>C	(Likely) benign	1 lab	29f88137ed
12:111748250 CUX2 C>T	12	111748250	111748250	C	T	CUX2	c.1664C>T	NM_015267.4	NP_056082.2:p.(Thr555Met)	NC_000012.11:g.111748250C>T	VUS	1 lab	ab10331868
3:77614161 ROBO2 A>G	3	77614161	77614161	A	G	ROBO2	c.1739A>G	NM_002942.5	NP_002933.1:p.(Tyr580Cys)	NC_000003.11:g.77614161A>G	(Likely) benign	1 lab	29f8843069
17:79817126 P4HB C>T	17	79817126	79817126	C	T	P4HB	c.283G>A	NM_000918.4	NP_000909.2:p.(Gly95Ser)	NC_000017.10:g.79817126C>T	VUS	1 lab	ab1068cc88
3:9483426 SETD5 G>C	3	9483426	9483426	G	C	SETD5	c.959+1G>C	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9483426G>C	(Likely) pathogenic	1 lab	ab10fccf9e
4:114290888 ANK2 T>C	4	114290888	114290888	T	C	ANK2	c.11537T>C	NM_001148.6	NP_001139.3:p.(Leu3846Pro)	NC_000004.11:g.114290888T>C	VUS	1 lab	ab11069a42
3:41831290 ULK4 C>T	3	41831290	41831290	C	T	ULK4	c.2056G>A	NM_017886.4	NP_060356.2:p.(Val686Ile)	NC_000003.11:g.41831290C>T	(Likely) benign	1 lab	ab14e5d703
9:133760195 ABL1 A>G	9	133760195	133760195	A	G	ABL1	c.2518A>G	NM_005157.6	NP_005148.2:p.(Ser840Gly)	NC_000009.11:g.133760195A>G	(Likely) benign	1 lab	ab16007a68
16:66977781 CES2 C>T	16	66977781	66977781	C	T	CES2	c.1533C>T	NM_001365405.1	NP_001352334.1:p.(Phe511=)	NC_000016.9:g.66977781C>T	VUS	1 lab	ab178eaad4
20:45353856 SLC2A10 G>A	20	45353856	45353856	G	A	SLC2A10	c.181G>A	NM_030777.4	NP_110404.1:p.(Ala61Thr)	NC_000020.10:g.45353856G>A	(Likely) benign	1 lab	ab18c3e82b
1:155220114 ENTREP3 A>G	1	155220114	155220114	A	G	ENTREP3	c.1463T>C	NM_006589.3	NP_006580.2:p.(Leu488Pro)	NC_000001.10:g.155220114A>G	VUS	1 lab	ab197cb966
9:133927878 LAMC3 A>G	9	133927878	133927878	A	G	LAMC3	c.1631A>G	NM_006059.4	NP_006050.3:p.(Glu544Gly)	NC_000009.11:g.133927878A>G	(Likely) benign	1 lab	d9540ddc52
11:67261410 PITPNM1 G>C	11	67261410	67261410	G	C	PITPNM1	c.2991C>G	NM_004910.3	NP_004901.2:p.(Pro997=)	NC_000011.9:g.67261410G>C	(Likely) benign	1 lab	ab1ad82f25
2:46228693 PRKCE G>A	2	46228693	46228693	G	A	PRKCE	c.966+8G>A	NM_005400.3	NP_005391.1:p.?	NC_000002.11:g.46228693G>A	(Likely) benign	1 lab	ab1b26b191
11:71152438 DHCR7 G>A	11	71152438	71152438	G	A	DHCR7	c.461C>T	NM_001360.3	NP_001351.2:p.(Thr154Met)	NC_000011.9:g.71152438G>A	(Likely) pathogenic	1 lab	ab1c77d91f
1:36932339 CSF3R C>G	1	36932339	36932339	C	G	CSF3R	c.2130G>C	NM_000760.4	NP_000751.1:p.(Glu710Asp)	NC_000001.10:g.36932339C>G	(Likely) benign	1 lab	ab1c7983da
19:47260125 FKRP T>G	19	47260125	47260125	T	G	FKRP	c.1418T>G	NM_024301.5	NP_077277.1:p.(Phe473Cys)	NC_000019.9:g.47260125T>G	VUS	1 lab	ab1d219c9a
2:179479091 TTN C>T	2	179479091	179479091	C	T	TTN	c.49049-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179479091C>T	(Likely) benign	1 lab	ab1d3ae1c0
5:149441152 CSF1R G>A	5	149441152	149441152	G	A	CSF1R	c.1760C>T	NM_001288705.3	NP_001275634.1:p.(Thr587Ile)	NC_000005.9:g.149441152G>A	(Likely) benign	1 lab	ab1d427419
5:13794057 DNAH5 C>A	5	13794057	13794057	C	A	DNAH5	c.7998G>T	NM_001369.3	NP_001360.1:p.(Glu2666Asp)	NC_000005.9:g.13794057C>A	(Likely) benign	1 lab	ab1d6e2a68
7:75611562 POR T>C	7	75611562	75611562	T	C	POR	c.752T>C	NM_000941.3	NP_000932.3:p.(Val251Ala)	NC_000007.13:g.75611562T>C	(Likely) benign	1 lab	ab1eb63816
11:47431757 SLC39A13 C>T	11	47431757	47431757	C	T	SLC39A13	c.112C>T	NM_001128225.3	NP_001121697.2:p.(Arg38Trp)	NC_000011.9:g.47431757C>T	VUS	1 lab	ab1f7920f9
15:90628267 IDH2 G>A	15	90628267	90628267	G	A	IDH2	c.1144C>T	NM_002168.4	NP_002159.2:p.(Arg382Trp)	NC_000015.9:g.90628267G>A	VUS	1 lab	ab1f9d476f
11:58920294 FAM111A C>T	11	58920294	58920294	C	T	FAM111A	c.1153C>T	NM_001312909.2	NP_001299838.1:p.(His385Tyr)	NC_000011.9:g.58920294C>T	(Likely) benign	1 lab	ab21f670e6
5:1264512 TERT C>T	5	1264512	1264512	C	T	TERT	c.2843+7G>A	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1264512C>T	(Likely) benign	1 lab	ab2404ca60
19:1453438 APC2 A>G	19	1453438	1453438	A	G	APC2	c.241A>G	NM_005883.3	NP_005874.1:p.(Met81Val)	NC_000019.9:g.1453438A>G	(Likely) benign	1 lab	ab24e22872
X:32867878 DMD T>TA	X	32867878	32867879	T	TA	DMD	c.152dup	NM_004006.3	NP_003997.2:p.(Asp52ArgfsTer37)	NC_000023.10:g.32867879dup	(Likely) pathogenic	1 lab	ab24fb14ba
15:43502526 EPB42 C>T	15	43502526	43502526	C	T	EPB42	c.744+7G>A	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43502526C>T	(Likely) benign	1 lab	29fa42350c
4:82056349 PRKG2 G>A	4	82056349	82056349	G	A	PRKG2	c.1736C>T	NM_006259.3	NP_006250.1:p.(Pro579Leu)	NC_000004.11:g.82056349G>A	VUS	1 lab	ab2b2f558d
2:152495810 NEB T>C	2	152495810	152495810	T	C	NEB	c.8978A>G	NM_001164508.2	NP_001157980.2:p.(Lys2993Arg)	NC_000002.11:g.152495810T>C	(Likely) benign	1 lab	ab2c9ee8c4
5:150947774 FAT2 G>A	5	150947774	150947774	G	A	FAT2	c.719C>T	NM_001447.3	NP_001438.1:p.(Ala240Val)	NC_000005.9:g.150947774G>A	VUS	1 lab	d956b7c81f
9:33073715 SMU1 T>G	9	33073715	33073715	T	G	SMU1	c.116A>C	NM_018225.3	NP_060695.2:p.(Asn39Thr)	NC_000009.11:g.33073715T>G	VUS	1 lab	ab2d8816f4
16:3767408 TRAP1 C>G	16	3767408	3767408	C	G	TRAP1	c.88+14G>C	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3767408C>G	(Likely) benign	1 lab	29fbabbdcc
11:108151877 ATM A>C	11	108151877	108151877	A	C	ATM	c.3558A>C	NM_000051.3	NP_000042.3:p.(Glu1186Asp)	NC_000011.9:g.108151877A>C	(Likely) benign	1 lab	29fd520b99
1:32050318 TINAGL1 G>A	1	32050318	32050318	G	A	TINAGL1	c.622G>A	NM_022164.3	NP_071447.1:p.(Glu208Lys)	NC_000001.10:g.32050318G>A	(Likely) benign	1 lab	ab2f2f6e7f
5:90040988 ADGRV1 C>T	5	90040988	90040988	C	T	ADGRV1	c.10675C>T	NM_032119.4	NP_115495.3:p.(Leu3559Phe)	NC_000005.9:g.90040988C>T	(Likely) benign	1 lab	ab2fd2ebd0
19:40392330 FCGBP T>G	19	40392330	40392330	T	G	FCGBP	c.8174A>C	NM_003890.3	NP_003881.2:p.(Asn2725Thr)	NC_000019.9:g.40392330T>G	(Likely) benign	1 lab	ab306a17d3
8:144511770 MAFA C>A	8	144511770	144511770	C	A	MAFA	c.807G>T	NM_201589.4	NP_963883.2:p.(Gln269His)	NC_000008.10:g.144511770C>A	VUS	1 lab	ab31bfea0e
15:89402620 ACAN G>C	15	89402620	89402620	G	C	ACAN	c.6804G>C	NM_001369268.1	NP_001356197.1:p.(Trp2268Cys)	NC_000015.9:g.89402620G>C	VUS	1 lab	ab32413101
17:8053861 PER1 T>C	17	8053861	8053861	T	C	PER1	c.164A>G	NM_002616.3	NP_002607.2:p.(Asn55Ser)	NC_000017.10:g.8053861T>C	(Likely) benign	1 lab	ab338515da
2:170042152 LRP2 G>A	2	170042152	170042152	G	A	LRP2	c.9706C>T	NM_004525.3	NP_004516.2:p.(Arg3236Ter)	NC_000002.11:g.170042152G>A	VUS	1 lab	ab351f6e71
11:102816410 MMP13 A>G	11	102816410	102816410	A	G	MMP13	c.1280T>C	NM_002427.4	NP_002418.1:p.(Ile427Thr)	NC_000011.9:g.102816410A>G	VUS	1 lab	ab35607e75
1:22838238 ZBTB40 A>G	1	22838238	22838238	A	G	ZBTB40	c.2072A>G	NM_014870.4	NP_055685.3:p.(Asn691Ser)	NC_000001.10:g.22838238A>G	(Likely) benign	1 lab	ab36fc6213
15:49090178 CEP152 T>C	15	49090178	49090178	T	C	CEP152	c.158A>G	NM_001194998.2	NP_001181927.1:p.(Tyr53Cys)	NC_000015.9:g.49090178T>C	(Likely) benign	1 lab	ab38b74b0d
1:82408731 ADGRL2 G>T	1	82408731	82408731	G	T	ADGRL2	c.488G>T	NM_001366006.2	NP_001352935.1:p.(Trp163Leu)	NC_000001.10:g.82408731G>T	VUS	1 lab	ab3936aaf7
10:5498586 NET1 T>C	10	5498586	5498586	T	C	NET1	c.1420T>C	NM_001047160.3	NP_001040625.1:p.(Ser474Pro)	NC_000010.10:g.5498586T>C	(Likely) benign	1 lab	ab3a2eeecc
16:1259272 CACNA1H C>T	16	1259272	1259272	C	T	CACNA1H	c.3604C>T	NM_021098.3	NP_066921.2:p.(Arg1202Trp)	NC_000016.9:g.1259272C>T	VUS	1 lab	ab3b470edb
17:41570144 DHX8 G>A	17	41570144	41570144	G	A	DHX8	c.599G>A	NM_004941.3	NP_004932.1:p.(Arg200Gln)	NC_000017.10:g.41570144G>A	(Likely) benign	1 lab	ab3b746403
2:130872791 POTEF A>G	2	130872791	130872791	A	G	POTEF	c.632T>C	NM_001099771.2	NP_001093241.1:p.(Ile211Thr)	NC_000002.11:g.130872791A>G	(Likely) benign	1 lab	ab3d02c70f
1:205632306 SLC45A3 G>A	1	205632306	205632306	G	A	SLC45A3	c.613C>T	NM_033102.3	NP_149093.1:p.(Leu205Phe)	NC_000001.10:g.205632306G>A	(Likely) benign	1 lab	ab3d3544db
17:79818232 P4HB G>T	17	79818232	79818232	G	T	P4HB	c.116C>A	NM_000918.4	NP_000909.2:p.(Ala39Glu)	NC_000017.10:g.79818232G>T	(Likely) benign	1 lab	ab3d92552d
14:95236192 GSC T>G	14	95236192	95236192	T	G	GSC	c.161A>C	NM_173849.3	NP_776248.1:p.(Tyr54Ser)	NC_000014.8:g.95236192T>G	VUS	1 lab	ab3f75328d
11:118392124 KMT2A G>A	11	118392124	118392124	G	A	KMT2A	c.11635G>A	NM_001197104.2	NP_001184033.1:p.(Asp3879Asn)	NC_000011.9:g.118392124G>A	(Likely) benign	1 lab	ab40275933
14:24709511 TINF2 G>A	14	24709511	24709511	G	A	TINF2	c.1087C>T	NM_001099274.3	NP_001092744.1:p.(Pro363Ser)	NC_000014.8:g.24709511G>A	VUS	1 lab	ab40ce3e41
13:32914529 BRCA2 A>G	13	32914529	32914529	A	G	BRCA2	c.6037A>G	NM_000059.4	NP_000050.3:p.(Lys2013Glu)	NC_000013.10:g.32914529A>G	VUS	1 lab	ab420eecc4
4:6304128 WFS1 G>A	4	6304128	6304128	G	A	WFS1	c.2606G>A	NM_006005.3	NP_005996.2:p.(Ser869Asn)	NC_000004.11:g.6304128G>A	(Likely) benign	1 lab	ab42728490
3:130380604 COL6A6 G>A	3	130380604	130380604	G	A	COL6A6	c.5954G>A	NM_001102608.3	NP_001096078.1:p.(Arg1985Lys)	NC_000003.11:g.130380604G>A	(Likely) benign	1 lab	ab430b2b04
4:3769670 ADRA2C G>T	4	3769670	3769670	G	T	ADRA2C	c.1337G>T	NM_000683.4	NP_000674.2:p.(Arg446Leu)	NC_000004.11:g.3769670G>T	(Likely) benign	1 lab	ab432edc98
10:95155896 MYOF T>G	10	95155896	95155896	T	G	MYOF	c.1417+3A>C	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95155896T>G	(Likely) benign	1 lab	ab43881047
11:119103192 CBL T>C	11	119103192	119103192	T	C	CBL	c.230T>C	NM_005188.4	NP_005179.2:p.(Leu77Pro)	NC_000011.9:g.119103192T>C	VUS	1 lab	ab448e00a9
2:55889110 PNPT1 G>C	2	55889110	55889110	G	C	PNPT1	c.1228C>G	NM_033109.5	NP_149100.2:p.(Gln410Glu)	NC_000002.11:g.55889110G>C	VUS	1 lab	ab44af4073
9:139734187 RABL6 C>G	9	139734187	139734187	C	G	RABL6	c.1800C>G	NM_024718.5	NP_078994.3:p.(Asp600Glu)	NC_000009.11:g.139734187C>G	VUS	1 lab	ab46521672
1:108697633 SLC25A24 G>A	1	108697633	108697633	G	A	SLC25A24	c.794C>T	NM_013386.5	NP_037518.3:p.(Thr265Ile)	NC_000001.10:g.108697633G>A	VUS	1 lab	ab46b7b1fc
19:13409445 CACNA1A C>A	19	13409445	13409445	C	A	CACNA1A	c.3002G>T	NM_001127222.2	NP_001120694.1:p.(Arg1001Leu)	NC_000019.9:g.13409445C>A	VUS	1 lab	ab47340614
9:109690372 ZNF462 CT>C	9	109690372	109690373	CT	C	ZNF462	c.4180del	NM_021224.6	NP_067047.4:p.(Trp1394GlyfsTer3)	NC_000009.11:g.109690373del	(Likely) pathogenic	1 lab	ab474c80ef
6:157099188 ARID1B C>G	6	157099188	157099188	C	G	ARID1B	c.374C>G	NM_001374828.1	NP_001361757.1:p.(Ala125Gly)	NC_000006.11:g.157099188C>G	(Likely) benign	1 lab	ab47e0833a
7:6031708 PMS2 T>C	7	6031708	6031708	T	C	PMS2	c.904-20A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6031708T>C	(Likely) benign	1 lab	ab4b096c56
X:24839566 POLA1 T>C	X	24839566	24839566	T	C	POLA1	c.3430-3T>C	NM_001330360.2	NP_001317289.1:p.?	NC_000023.10:g.24839566T>C	VUS	1 lab	ab4b230177
19:2130394 AP3D1 C>CA	19	2130394	2130397	C	CA	AP3D1	c.592+12dup	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2130397dup	(Likely) benign	1 lab	29ff9f0baf
17:7123506 ACADVL G>A	17	7123506	7123506	G	A	ACADVL	c.128G>A	NM_000018.4	NP_000009.1:p.(Gly43Asp)	NC_000017.10:g.7123506G>A	(Likely) benign	1 lab	ab4d1fad6e
2:179436250 TTN G>A	2	179436250	179436250	G	A	TTN	c.74609C>T	NM_001267550.2	NP_001254479.2:p.(Ala24870Val)	NC_000002.11:g.179436250G>A	VUS	1 lab	ab4ddda332
X:144905747 SLITRK2 C>T	X	144905747	144905747	C	T	SLITRK2	c.1804C>T	NM_032539.5	NP_115928.1:p.(Leu602Phe)	NC_000023.10:g.144905747C>T	VUS	1 lab	ab523f17c7
X:153281931 IRAK1 G>A	X	153281931	153281931	G	A	IRAK1	c.1193C>T	NM_001569.4	NP_001560.2:p.(Thr398Met)	NC_000023.10:g.153281931G>A	VUS	1 lab	ab52963b79
2:113510053 CKAP2L T>G	2	113510053	113510053	T	G	CKAP2L	c.1395-2A>C	NM_152515.5	NP_689728.3:p.?	NC_000002.11:g.113510053T>G	VUS	1 lab	ab5607bb69
19:21117857 ZNF85 G>A	19	21117857	21117857	G	A	ZNF85	c.229+4G>A	NM_003429.5	NP_003420.2:p.?	NC_000019.9:g.21117857G>A	(Likely) benign	1 lab	ab57a24378
15:33445948 FMN1 G>A	15	33445948	33445948	G	A	FMN1	c.1168C>T	NM_001277313.2	NP_001264242.1:p.(Arg390Trp)	NC_000015.9:g.33445948G>A	(Likely) benign	1 lab	ab588382e6
X:122837308 THOC2 T>C	X	122837308	122837308	T	C	THOC2	c.270A>G	NM_001081550.2	NP_001075019.1:p.(Ile90Met)	NC_000023.10:g.122837308T>C	VUS	1 lab	ab5962d477
21:47787061 PCNT C>T	21	47787061	47787061	C	T	PCNT	c.3165+7C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47787061C>T	(Likely) benign	1 lab	ab59b85db3
9:135945962 CEL C>T	9	135945962	135945962	C	T	CEL	c.1401C>T	NM_001807.6	NP_001798.3:p.(Phe467=)	NC_000009.11:g.135945962C>T	(Likely) benign	1 lab	ab59d485dd
3:189712089 P3H2 G>A	3	189712089	189712089	G	A	P3H2	c.634-17C>T	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189712089G>A	(Likely) benign	1 lab	d959a74ac0
3:3215866 CRBN G>C	3	3215866	3215866	G	C	CRBN	c.254C>G	NM_016302.4	NP_057386.2:p.(Pro85Arg)	NC_000003.11:g.3215866G>C	VUS	1 lab	ab822599fe
8:11695935 FDFT1 C>G	8	11695935	11695935	C	G	FDFT1	c.1071C>G	NM_004462.5	NP_004453.3:p.(Ser357Arg)	NC_000008.10:g.11695935C>G	VUS	1 lab	ab5d358ae5
16:85711865 GINS2 G>A	16	85711865	85711865	G	A	GINS2	c.511C>T	NM_016095.3	NP_057179.1:p.(Arg171Cys)	NC_000016.9:g.85711865G>A	VUS	1 lab	ab5e22a9f3
19:50826333 KCNC3 C>A	19	50826333	50826333	C	A	KCNC3	c.1877G>T	NM_004977.3	NP_004968.2:p.(Gly626Val)	NC_000019.9:g.50826333C>A	(Likely) benign	1 lab	ab5e850182
1:68512954 DIRAS3 C>G	1	68512954	68512954	C	G	DIRAS3	c.27G>C	NM_004675.4	NP_004666.1:p.(Lys9Asn)	NC_000001.10:g.68512954C>G	VUS	1 lab	ab5ed1ca63
19:17599914 SLC27A1 GTACA>G	19	17599914	17599918	GTACA	G	SLC27A1	c.985_988del	NM_198580.3	NP_940982.1:p.(Tyr329ThrfsTer16)	NC_000019.9:g.17599915_17599918del	VUS	1 lab	ab609af190
16:2164307 PKD1 T>TC	16	2164307	2164312	T	TC	PKD1	c.2716dup	NM_001009944.3	NP_001009944.3:p.(Glu906GlyfsTer195)	NC_000016.9:g.2164312dup	(Likely) pathogenic	1 lab	ab609e9abb
12:22063795 ABCC9 T>C	12	22063795	22063795	T	C	ABCC9	c.1129A>G	NM_020297.4	NP_064693.2:p.(Ile377Val)	NC_000012.11:g.22063795T>C	VUS	1 lab	ab61e32f50
15:89416251 ACAN G>A	15	89416251	89416251	G	A	ACAN	c.7442G>A	NM_001369268.1	NP_001356197.1:p.(Gly2481Asp)	NC_000015.9:g.89416251G>A	VUS	1 lab	ab63722867
8:6338284 MCPH1 A>G	8	6338284	6338284	A	G	MCPH1	c.2023A>G	NM_024596.5	NP_078872.3:p.(Ile675Val)	NC_000008.10:g.6338284A>G	(Likely) benign	1 lab	ab66e5ffaa
2:29296133 PCARE G>A	2	29296133	29296133	G	A	PCARE	c.995C>T	NM_001029883.3	NP_001025054.1:p.(Ala332Val)	NC_000002.11:g.29296133G>A	VUS	1 lab	ab67a8c413
8:61773532 CHD7 C>T	8	61773532	61773532	C	T	CHD7				NC_000008.10:g.61773532C>T	VUS	1 lab	4ae0e47bca
14:21899776 CHD8 G>A	14	21899776	21899776	G	A	CHD8	c.27C>T	NM_001170629.2	NP_001164100.1:p.(Phe9=)	NC_000014.8:g.21899776G>A	(Likely) benign	1 lab	ab69b2d919
4:6302492 WFS1 A>G	4	6302492	6302492	A	G	WFS1	c.970A>G	NM_006005.3	NP_005996.2:p.(Ile324Val)	NC_000004.11:g.6302492A>G	(Likely) benign	1 lab	ab69d5acf8
1:153651600 NPR1 C>A	1	153651600	153651600	C	A	NPR1	c.16C>A	NM_000906.4	NP_000897.3:p.(Arg6Ser)	NC_000001.10:g.153651600C>A	(Likely) benign	1 lab	ab69e4ccf1
2:96583632 ANKRD36C T>G	2	96583632	96583632	T	G	ANKRD36C	c.2420A>C	NM_001393982.1	NP_001380911.1:p.(Glu807Ala)	NC_000002.11:g.96583632T>G	VUS	1 lab	ab6b21463a
2:228124551 COL4A3 A>T	2	228124551	228124551	A	T	COL4A3	c.1072A>T	NM_000091.5	NP_000082.2:p.(Thr358Ser)	NC_000002.11:g.228124551A>T	VUS	1 lab	ab6b3a0ff8
19:49337558 HSD17B14 T>C	19	49337558	49337558	T	C	HSD17B14	c.185A>G	NM_016246.3	NP_057330.2:p.(Asp62Gly)	NC_000019.9:g.49337558T>C	(Likely) benign	1 lab	ab6bbd30a3
4:191003198 MISSING G>T	4	191003198	191003198	G	T	MISSING				NC_000004.11:g.191003198G>T	VUS	1 lab	ab6cc5ee02
8:145000968 PLEC C>T	8	145000968	145000968	C	T	PLEC	c.4028G>A	NM_201384.3	NP_958786.1:p.(Arg1343His)	NC_000008.10:g.145000968C>T	VUS	1 lab	ab6cff8875
19:14024062 CC2D1A G>A	19	14024062	14024062	G	A	CC2D1A	c.460G>A	NM_017721.5	NP_060191.3:p.(Ala154Thr)	NC_000019.9:g.14024062G>A	VUS	1 lab	ab6da33ebb
11:66455734 SPTBN2 G>A	11	66455734	66455734	G	A	SPTBN2	c.6280C>T	NM_006946.4	NP_008877.2:p.(Arg2094Trp)	NC_000011.9:g.66455734G>A	VUS	1 lab	ab6f49bccd
8:27324789 CHRNA2 G>C	8	27324789	27324789	G	C	CHRNA2	c.406C>G	NM_000742.4	NP_000733.2:p.(Pro136Ala)	NC_000008.10:g.27324789G>C	VUS	1 lab	ab70aef20d
2:165953887 SCN3A T>C	2	165953887	165953887	T	C	SCN3A	c.4114A>G	NM_006922.4	NP_008853.3:p.(Met1372Val)	NC_000002.11:g.165953887T>C	VUS	1 lab	ab724e4878
19:12541415 ZNF443 C>T	19	12541415	12541415	C	T	ZNF443	c.1571G>A	NM_005815.5	NP_005806.3:p.(Arg524Lys)	NC_000019.9:g.12541415C>T	(Likely) benign	1 lab	ab73b3e64a
12:98938851 TMPO C>T	12	98938851	98938851	C	T	TMPO	c.990+12C>T	NM_001032283.2	NP_001027454.1:p.?	NC_000012.11:g.98938851C>T	(Likely) benign	1 lab	29ffa946c9
1:144879355 PDE4DIP C>A	1	144879355	144879355	C	A	PDE4DIP	c.4293G>T	NM_001395426.1	NP_001382355.1:p.(Leu1431=)	NC_000001.10:g.144879355C>A	VUS	1 lab	ab7560c56a
1:6931823 CAMTA1 T>G	1	6931823	6931823	T	G	CAMTA1	c.234+46553T>G	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.6931823T>G	VUS	1 lab	ab7a64af4b
X:23398270 PTCHD1 T>C	X	23398270	23398270	T	C	PTCHD1	c.914T>C	NM_173495.3	NP_775766.2:p.(Val305Ala)	NC_000023.10:g.23398270T>C	VUS	1 lab	ab7d36dc30
X:64949470 MSN C>T	X	64949470	64949470	C	T	MSN	c.363C>T	NM_002444.3	NP_002435.1:p.(Thr121=)	NC_000023.10:g.64949470C>T	(Likely) benign	1 lab	2a02e33659
1:223177533 DISP1 C>T	1	223177533	223177533	C	T	DISP1	c.2794C>T	NM_001377229.1	NP_001364158.1:p.(Leu932Phe)	NC_000001.10:g.223177533C>T	VUS	1 lab	ab833957d2
17:42934526 EFTUD2 C>T	17	42934526	42934526	C	T	EFTUD2	c.1963-1G>A	NM_001258353.1	NP_001245282.1:p.?	NC_000017.10:g.42934526C>T	(Likely) pathogenic	1 lab	2a04ee1e12
X:110971431 ALG13 A>G	X	110971431	110971431	A	G	ALG13	c.2266A>G	NM_001099922.3	NP_001093392.1:p.(Thr756Ala)	NC_000023.10:g.110971431A>G	(Likely) benign	1 lab	ab855ac0ae
6:117245914 RFX6 G>A	6	117245914	117245914	G	A	RFX6	c.1638G>A	NM_173560.4	NP_775831.2:p.(Gln546=)	NC_000006.11:g.117245914G>A	(Likely) benign	1 lab	ab86026d2c
1:240601425 FMN2 A>T	1	240601425	240601425	A	T	FMN2	c.4975A>T	NM_020066.5	NP_064450.3:p.(Asn1659Tyr)	NC_000001.10:g.240601425A>T	(Likely) benign	1 lab	ab86681b9c
5:137222546 MYOT A>C	5	137222546	137222546	A	C	MYOT	c.1191-7A>C	NM_006790.3	NP_006781.1:p.?	NC_000005.9:g.137222546A>C	(Likely) benign	1 lab	ab86d4ea3b
16:2152804 PKD1 G>A	16	2152804	2152804	G	A	PKD1	c.8948+11C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152804G>A	(Likely) benign	1 lab	ab876fd844
2:197540913 CCDC150 T>C	2	197540913	197540913	T	C	CCDC150	c.1184T>C	NM_001080539.2	NP_001074008.1:p.(Leu395Ser)	NC_000002.11:g.197540913T>C	VUS	1 lab	ab8882f059
15:90213401 PLIN1 C>T	15	90213401	90213401	C	T	PLIN1	c.408G>A	NM_002666.5	NP_002657.3:p.(Ala136=)	NC_000015.9:g.90213401C>T	(Likely) benign	1 lab	ab8a30d7fc
19:46299138 RSPH6A T>TCTCCTCGCCCTCCTCCTC	19	46299138	46299180	T	TCTCCTCGCCCTCCTCCTC	RSPH6A	c.2125_2142dup	NM_030785.4	NP_110412.1:p.(Glu709_Glu714dup)	NC_000019.9:g.46299163_46299180dup	VUS	1 lab	ab8a6ebd8d
1:20982638 DDOST A>G	1	20982638	20982638	A	G	DDOST	c.308T>C	NM_005216.5	NP_005207.3:p.(Ile103Thr)	NC_000001.10:g.20982638A>G	VUS	1 lab	ab8a8c2320
16:7759113 RBFOX1 A>C	16	7759113	7759113	A	C	RBFOX1	c.1051A>C	NM_018723.4	NP_061193.2:p.(Thr351Pro)	NC_000016.9:g.7759113A>C	VUS	1 lab	ab8aaf33ba
11:45971813 PHF21A G>A	11	45971813	45971813	G	A	PHF21A	c.1096-5C>T	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45971813G>A	(Likely) benign	1 lab	ab8b77ac4e
15:89417133 ACAN G>A	15	89417133	89417133	G	A	ACAN	c.7508G>A	NM_001369268.1	NP_001356197.1:p.(Arg2503Gln)	NC_000015.9:g.89417133G>A	VUS	1 lab	aba5cc4ed5
17:48646346 CACNA1G A>AGTGT	17	48646346	48646376	A	AGTGT	CACNA1G	c.354+31_354+34dup	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646373_48646376dup	(Likely) benign	1 lab	ab8d111138
19:15355516 BRD4 T>C	19	15355516	15355516	T	C	BRD4	c.2211+5A>G	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15355516T>C	(Likely) benign	1 lab	ab8d7a0dca
10:50944551 OGDHL C>T	10	50944551	50944551	C	T	OGDHL	c.2606G>A	NM_018245.3	NP_060715.2:p.(Arg869Gln)	NC_000010.10:g.50944551C>T	VUS	1 lab	ab8d83ff61
1:223568559 CCDC185 C>G	1	223568559	223568559	C	G	CCDC185	c.1742C>G	NM_152610.3	NP_689823.2:p.(Pro581Arg)	NC_000001.10:g.223568559C>G	(Likely) benign	1 lab	ab8e894805
1:160261890 COPA C>G	1	160261890	160261890	C	G	COPA	c.3059G>C	NM_004371.4	NP_004362.2:p.(Gly1020Ala)	NC_000001.10:g.160261890C>G	VUS	1 lab	28622b3793
13:77725092 MYCBP2 T>C	13	77725092	77725092	T	C	MYCBP2	c.6916-8A>G	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77725092T>C	(Likely) benign	1 lab	ab906321e0
16:72821600 ZFHX3 GCCGCCGCCGCCGCCGCCA>G	16	72821600	72821637	GCCGCCGCCGCCGCCGCCA	G	ZFHX3	c.10557_10574del	NM_006885.4	NP_008816.3:p.(Gly3522_Gly3527del)	NC_000016.9:g.72821620_72821637del	VUS	1 lab	ab944f73c4
2:166243216 SCN2A T>A	2	166243216	166243216	T	A	SCN2A	c.4552-40T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243216T>A	(Likely) benign	1 lab	2a08bbf8bc
17:40690710 NAGLU G>A	17	40690710	40690710	G	A	NAGLU	c.701G>A	NM_000263.4	NP_000254.2:p.(Arg234His)	NC_000017.10:g.40690710G>A	(Likely) pathogenic	1 lab	ab9b0a6c5c
21:47754461 PCNT C>T	21	47754461	47754461	C	T	PCNT	c.418C>T	NM_006031.6	NP_006022.3:p.(Pro140Ser)	NC_000021.8:g.47754461C>T	(Likely) benign	1 lab	ab9b11014a
3:49318225 USP4 C>T	3	49318225	49318225	C	T	USP4	c.2596G>A	NM_003363.4	NP_003354.2:p.(Asp866Asn)	NC_000003.11:g.49318225C>T	VUS	1 lab	ab9ebff9ff
X:65486284 HEPH G>T	X	65486284	65486284	G	T	HEPH	c.3247G>T	NM_001367233.3	NP_001354162.2:p.(Val1083Leu)	NC_000023.10:g.65486284G>T	(Likely) benign	1 lab	ab9fb926c8
2:201440122 SGO2 A>G	2	201440122	201440122	A	G	SGO2	c.3720A>G	NM_152524.6	NP_689737.4:p.(Ser1240=)	NC_000002.11:g.201440122A>G	(Likely) benign	1 lab	aba131be1c
1:43392854 SLC2A1 A>G	1	43392854	43392854	A	G	SLC2A1	c.1337T>C	NM_006516.4	NP_006507.2:p.(Ile446Thr)	NC_000001.10:g.43392854A>G	VUS	1 lab	aba38662b6
5:171765648 SH3PXD2B T>C	5	171765648	171765648	T	C	SH3PXD2B	c.2461A>G	NM_001017995.3	NP_001017995.1:p.(Lys821Glu)	NC_000005.9:g.171765648T>C	VUS	1 lab	aba90ca1e9
1:103540340 COL11A1 A>T	1	103540340	103540340	A	T	COL11A1	c.489-4T>A	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103540340A>T	(Likely) benign	1 lab	aba98cf7e0
4:79385226 FRAS1 A>G	4	79385226	79385226	A	G	FRAS1	c.6815A>G	NM_025074.7	NP_079350.5:p.(Gln2272Arg)	NC_000004.11:g.79385226A>G	VUS	1 lab	abaae85726
19:41858590 TGFB1 C>T	19	41858590	41858590	C	T	TGFB1	c.355+5G>A	NM_000660.7	NP_000651.3:p.?	NC_000019.9:g.41858590C>T	(Likely) benign	1 lab	abad38e309
15:40700168 IVD G>A	15	40700168	40700168	G	A	IVD	c.265G>A	NM_002225.5	NP_002216.3:p.(Val89Ile)	NC_000015.9:g.40700168G>A	VUS	1 lab	abafcdf39d
9:34255063 KIF24 T>C	9	34255063	34255063	T	C	KIF24	c.3966+7A>G	NM_194313.4	NP_919289.2:p.?	NC_000009.11:g.34255063T>C	(Likely) benign	1 lab	abb2b5f319
15:99452028 IGF1R A>C	15	99452028	99452028	A	C	IGF1R	c.1362A>C	NM_000875.5	NP_000866.1:p.(Leu454Phe)	NC_000015.9:g.99452028A>C	(Likely) benign	1 lab	abb9748c87
16:2167630 PKD1 G>A	16	2167630	2167630	G	A	PKD1	c.1245C>T	NM_001009944.3	NP_001009944.3:p.(Gly415=)	NC_000016.9:g.2167630G>A	VUS	1 lab	abbadcbab5
16:30982840 SETD1A CG>C	16	30982840	30982841	CG	C	SETD1A	c.3159del	NM_014712.3	NP_055527.1:p.(Ser1054ProfsTer208)	NC_000016.9:g.30982841del	(Likely) pathogenic	1 lab	abbb77fe0b
6:108029133 SCML4 C>T	6	108029133	108029133	C	T	SCML4	c.1056G>A	NM_198081.5	NP_932347.2:p.(Val352=)	NC_000006.11:g.108029133C>T	(Likely) benign	1 lab	abbc1d4c62
3:134078278 AMOTL2 T>C	3	134078278	134078278	T	C	AMOTL2	c.1951A>G	NM_016201.4	NP_057285.3:p.(Arg651Gly)	NC_000003.11:g.134078278T>C	VUS	1 lab	abbc29dde9
2:66670157 MEIS1 A>G	2	66670157	66670157	A	G	MEIS1	c.607A>G	NM_002398.3	NP_002389.1:p.(Arg203Gly)	NC_000002.11:g.66670157A>G	(Likely) benign	1 lab	abbc9271d4
15:33192242 FMN1 G>A	15	33192242	33192242	G	A	FMN1	c.3592C>T	NM_001277313.2	NP_001264242.1:p.(Arg1198Trp)	NC_000015.9:g.33192242G>A	VUS	1 lab	abbc9f79be
11:17408857 KCNJ11 A>G	11	17408857	17408857	A	G	KCNJ11	c.782T>C	NM_000525.4	NP_000516.3:p.(Ile261Thr)	NC_000011.9:g.17408857A>G	VUS	1 lab	abbe38b6b0
14:71413764 PCNX1 A>G	14	71413764	71413764	A	G	PCNX1	c.286A>G	NM_014982.3	NP_055797.2:p.(Asn96Asp)	NC_000014.8:g.71413764A>G	(Likely) benign	1 lab	abbf25eeb5
16:29824546 PRRT2 C>T	16	29824546	29824546	C	T	PRRT2	c.171C>T	NM_145239.3	NP_660282.2:p.(Ala57=)	NC_000016.9:g.29824546C>T	(Likely) benign	1 lab	abc1455d13
4:1920150 NSD2 A>G	4	1920150	1920150	A	G	NSD2	c.1210A>G	NM_001042424.3	NP_001035889.1:p.(Lys404Glu)	NC_000004.11:g.1920150A>G	(Likely) benign	1 lab	abc269b886
18:55321310 ATP8B1 G>T	18	55321310	55321310	G	T	ATP8B1	c.2932-3C>A	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55321310G>T	(Likely) pathogenic	1 lab	2a0a388ca1
22:39918522 ATF4 C>T	22	39918522	39918522	C	T	ATF4	c.971C>T	NM_182810.3	NP_877962.1:p.(Ala324Val)	NC_000022.10:g.39918522C>T	(Likely) benign	1 lab	abc4d28d04
15:59430313 MYO1E C>A	15	59430313	59430313	C	A	MYO1E	c.3250+84G>T	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59430313C>A	(Likely) benign	1 lab	2a0be09e51
21:34925610 SON C>T	21	34925610	34925610	C	T	SON	c.4073C>T	NM_138927.4	NP_620305.3:p.(Ala1358Val)	NC_000021.8:g.34925610C>T	(Likely) benign	1 lab	abc55c326d
14:23828141 EFS C>T	14	23828141	23828141	C	T	EFS	c.1195G>A	NM_005864.4	NP_005855.1:p.(Asp399Asn)	NC_000014.8:g.23828141C>T	VUS	1 lab	abc7a8bd65
1:2435373 PLCH2 T>C	1	2435373	2435373	T	C	PLCH2	c.2972T>C	NM_014638.4	NP_055453.2:p.(Leu991Pro)	NC_000001.10:g.2435373T>C	(Likely) benign	1 lab	abc7c64463
5:178419396 GRM6 A>AC	5	178419396	178419401	A	AC	GRM6	c.505-313dup	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178419401dup	(Likely) benign	1 lab	286ab055b3
17:79219937 SLC38A10 T>C	17	79219937	79219937	T	C	SLC38A10	c.2779A>G	NM_001037984.3	NP_001033073.1:p.(Lys927Glu)	NC_000017.10:g.79219937T>C	(Likely) benign	1 lab	abcb6ed01f
18:14840581 ANKRD30B T>C	18	14840581	14840581	T	C	ANKRD30B	c.2989-6T>C	NM_001367607.2	NP_001354536.1:p.?	NC_000018.9:g.14840581T>C	(Likely) benign	1 lab	abcbedbf06
19:18899488 COMP TGC>T	19	18899488	18899494	TGC	T	COMP	c.673_674del	NM_000095.3	NP_000086.2:p.(Ala225ThrfsTer46)	NC_000019.9:g.18899493_18899494del	VUS	1 lab	abcd9f77ea
1:154965223 FLAD1 G>A	1	154965223	154965223	G	A	FLAD1	c.1589G>A	NM_025207.5	NP_079483.3:p.(Arg530His)	NC_000001.10:g.154965223G>A	VUS	1 lab	abce28102a
17:48245324 SGCA G>A	17	48245324	48245324	G	A	SGCA	c.329G>A	NM_000023.4	NP_000014.1:p.(Arg110Gln)	NC_000017.10:g.48245324G>A	(Likely) benign	1 lab	abcedd9e82
16:89254511 CDH15 T>G	16	89254511	89254511	T	G	CDH15	c.796T>G	NM_004933.3	NP_004924.1:p.(Phe266Val)	NC_000016.9:g.89254511T>G	VUS	1 lab	abd0cdd78e
7:107558469 DLD C>T	7	107558469	107558469	C	T	DLD	c.1337C>T	NM_000108.5	NP_000099.2:p.(Ser446Leu)	NC_000007.13:g.107558469C>T	VUS	1 lab	abd105db46
16:28913641 ATP2A1 C>A	16	28913641	28913641	C	A	ATP2A1	c.2458C>A	NM_004320.6	NP_004311.1:p.(Pro820Thr)	NC_000016.9:g.28913641C>A	VUS	1 lab	abd1999b45
7:103004749 PSMC2 G>A	7	103004749	103004749	G	A	PSMC2	c.751G>A	NM_002803.4	NP_002794.1:p.(Gly251Ser)	NC_000007.13:g.103004749G>A	VUS	1 lab	abd28649eb
12:50467532 ASIC1 C>A	12	50467532	50467532	C	A	ASIC1	c.559-3464C>A	NM_001095.4	NP_001086.2:p.?	NC_000012.11:g.50467532C>A	(Likely) benign	1 lab	abd292c728
1:114381242 PTPN22 T>C	1	114381242	114381242	T	C	PTPN22	c.916A>G	NM_015967.8	NP_057051.4:p.(Ser306Gly)	NC_000001.10:g.114381242T>C	(Likely) benign	1 lab	abd42239d2
2:192012805 STAT4 T>C	2	192012805	192012805	T	C	STAT4	c.125A>G	NM_003151.4	NP_003142.1:p.(Asp42Gly)	NC_000002.11:g.192012805T>C	VUS	1 lab	286ab4e67a
3:78688924 ROBO1 C>T	3	78688924	78688924	C	T	ROBO1	c.3007G>A	NM_002941.4	NP_002932.1:p.(Asp1003Asn)	NC_000003.11:g.78688924C>T	(Likely) benign	1 lab	abd532dba6
1:111492547 LRIF1 A>G	1	111492547	111492547	A	G	LRIF1	c.1795T>C	NM_018372.4	NP_060842.3:p.(Ser599Pro)	NC_000001.10:g.111492547A>G	(Likely) benign	1 lab	abd6957190
17:73489958 TMEM94 A>G	17	73489958	73489958	A	G	TMEM94	c.2368A>G	NM_014738.6	NP_055553.3:p.(Ile790Val)	NC_000017.10:g.73489958A>G	(Likely) benign	1 lab	abd6a1844b
6:57055344 RAB23 T>C	6	57055344	57055344	T	C	RAB23	c.629A>G	NM_016277.5	NP_057361.3:p.(Asn210Ser)	NC_000006.11:g.57055344T>C	(Likely) benign	1 lab	abd6ddbaaf
7:143078490 ZYX G>A	7	143078490	143078490	G	A	ZYX	c.-28G>A	NM_003461.5	NP_003452.1:p.?	NC_000007.13:g.143078490G>A	(Likely) benign	1 lab	abd746a01c
2:171702088 GAD1 G>A	2	171702088	171702088	G	A	GAD1	c.824G>A	NM_000817.3	NP_000808.2:p.(Gly275Asp)	NC_000002.11:g.171702088G>A	VUS	1 lab	abd784c5a9
1:110613059 ALX3 G>A	1	110613059	110613059	G	A	ALX3	c.176C>T	NM_006492.3	NP_006483.2:p.(Pro59Leu)	NC_000001.10:g.110613059G>A	VUS	1 lab	abd8c95960
3:151105694 MED12L G>A	3	151105694	151105694	G	A	MED12L	c.5185G>A	NM_001393769.1	NP_001380698.1:p.(Val1729Ile)	NC_000003.11:g.151105694G>A	(Likely) benign	1 lab	abd94931a9
2:71909660 DYSF G>A	2	71909660	71909660	G	A	DYSF	c.6174G>A	NM_001130987.2	NP_001124459.1:p.(Arg2058=)	NC_000002.11:g.71909660G>A	(Likely) benign	1 lab	abd957b734
X:153296044 MECP2 A>G	X	153296044	153296044	A	G	MECP2	c.1271T>C	NM_001110792.2	NP_001104262.1:p.(Val424Ala)	NC_000023.10:g.153296044A>G	VUS	1 lab	abd9f8f969
7:92760927 SAMD9L G>A	7	92760927	92760927	G	A	SAMD9L	c.4358C>T	NM_152703.5	NP_689916.2:p.(Ser1453Leu)	NC_000007.13:g.92760927G>A	(Likely) benign	1 lab	abdc38cd04
15:84908532 GOLGA6L4 T>C	15	84908532	84908532	T	C	GOLGA6L4	c.434-8T>C	NM_001267536.3	NP_001254465.2:p.?	NC_000015.9:g.84908532T>C	(Likely) benign	1 lab	abe4259e21
1:155448678 ASH1L T>C	1	155448678	155448678	T	C	ASH1L	c.3983A>G	NM_018489.3	NP_060959.2:p.(Tyr1328Cys)	NC_000001.10:g.155448678T>C	VUS	1 lab	abe45344b5
4:151231371 LRBA T>A	4	151231371	151231371	T	A	LRBA	c.7849+10A>T	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151231371T>A	(Likely) benign	1 lab	abe73c8f95
22:45946496 FBLN1 G>A	22	45946496	45946496	G	A	FBLN1	c.1697+1G>A	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45946496G>A	VUS	1 lab	abe7b6fbba
16:53706779 RPGRIP1L T>G	16	53706779	53706779	T	G	RPGRIP1L	c.1029+3A>C	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53706779T>G	VUS	1 lab	abe9fd659e
1:155732060 GON4L A>C	1	155732060	155732060	A	C	GON4L	c.4832T>G	NM_001282860.2	NP_001269789.1:p.(Leu1611Arg)	NC_000001.10:g.155732060A>C	VUS	1 lab	abea955b7b
1:26137983 SELENON G>C	1	26137983	26137983	G	C	SELENON	c.947G>C	NM_206926.2	NP_996809.1:p.(Ser316Thr)	NC_000001.10:g.26137983G>C	VUS	1 lab	abeac31a5f
4:6303557 WFS1 A>C	4	6303557	6303557	A	C	WFS1	c.2035A>C	NM_006005.3	NP_005996.2:p.(Lys679Gln)	NC_000004.11:g.6303557A>C	VUS	1 lab	abeba7d4af
7:129950690 CPA4 T>C	7	129950690	129950690	T	C	CPA4	c.857T>C	NM_016352.4	NP_057436.2:p.(Val286Ala)	NC_000007.13:g.129950690T>C	(Likely) benign	1 lab	abec1c98de
3:23959999 RPL15 T>TA	3	23959999	23960000	T	TA	RPL15	c.242dup	NM_002948.5	NP_002939.2:p.(Tyr81Ter)	NC_000003.11:g.23960000dup	(Likely) pathogenic	1 lab	286cbbfc86
19:15276717 NOTCH3 C>A	19	15276717	15276717	C	A	NOTCH3	c.5548G>T	NM_000435.3	NP_000426.2:p.(Ala1850Ser)	NC_000019.9:g.15276717C>A	VUS	1 lab	abed63ecae
1:176671843 PAPPA2 C>T	1	176671843	176671843	C	T	PAPPA2	c.3337C>T	NM_020318.3	NP_064714.2:p.(Pro1113Ser)	NC_000001.10:g.176671843C>T	(Likely) benign	1 lab	abee6147fa
9:100616645 FOXE1 A>G	9	100616645	100616645	A	G	FOXE1	c.449A>G	NM_004473.4	NP_004464.2:p.(Lys150Arg)	NC_000009.11:g.100616645A>G	VUS	1 lab	abef5a6e53
17:10558344 MYH3 G>A	17	10558344	10558344	G	A	MYH3	c.38C>T	NM_002470.4	NP_002461.2:p.(Ala13Val)	NC_000017.10:g.10558344G>A	VUS	1 lab	abef76d9e8
9:95004477 IARS1 C>T	9	95004477	95004477	C	T	IARS1	c.3136G>A	NM_002161.6	NP_002152.2:p.(Val1046Ile)	NC_000009.11:g.95004477C>T	(Likely) benign	1 lab	abf0dea78f
2:241537306 CAPN10 T>C	2	241537306	241537306	T	C	CAPN10	c.1745T>C	NM_023083.4	NP_075571.2:p.(Val582Ala)	NC_000002.11:g.241537306T>C	(Likely) benign	1 lab	abf1063f8b
12:81062921 PTPRQ G>A	12	81062921	81062921	G	A	PTPRQ	c.6327+1G>A	NM_001145026.2	NP_001138498.1:p.?	NC_000012.11:g.81062921G>A	VUS	1 lab	abf13f2aa5
8:48805770 PRKDC C>T	8	48805770	48805770	C	T	PRKDC	c.3777G>A	NM_006904.6	NP_008835.5:p.(Leu1259=)	NC_000008.10:g.48805770C>T	(Likely) benign	1 lab	2a0be88b5e
22:41523561 EP300 G>C	22	41523561	41523561	G	C	EP300	c.977G>C	NM_001429.4	NP_001420.2:p.(Gly326Ala)	NC_000022.10:g.41523561G>C	(Likely) benign	1 lab	abf32d4a85
17:11687696 DNAH9 A>T	17	11687696	11687696	A	T	DNAH9	c.7901A>T	NM_001372.4	NP_001363.2:p.(His2634Leu)	NC_000017.10:g.11687696A>T	VUS	1 lab	abf3310142
1:152326663 FLG2 C>A	1	152326663	152326663	C	A	FLG2	c.3599G>T	NM_001014342.3	NP_001014364.1:p.(Gly1200Val)	NC_000001.10:g.152326663C>A	(Likely) benign	1 lab	abf478eeed
6:152638339 SYNE1 A>T	6	152638339	152638339	A	T	SYNE1	c.16573-218T>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152638339A>T	(Likely) benign	1 lab	abf6ba929c
19:40748466 AKT2 G>A	19	40748466	40748466	G	A	AKT2	c.416C>T	NM_001626.6	NP_001617.1:p.(Ala139Val)	NC_000019.9:g.40748466G>A	(Likely) benign	1 lab	abf7a16092
21:27369737 APP G>C	21	27369737	27369737	G	C	APP	c.1034-6C>G	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27369737G>C	(Likely) benign	1 lab	abf9e53854
6:51944749 PKHD1 T>A	6	51944749	51944749	T	A	PKHD1	c.339A>T	NM_138694.4	NP_619639.3:p.(Gly113=)	NC_000006.11:g.51944749T>A	(Likely) benign	1 lab	abfa62ec0f
18:19762975 GATA6 T>C	18	19762975	19762975	T	C	GATA6	c.1591T>C	NM_005257.6	NP_005248.2:p.(Ser531Pro)	NC_000018.9:g.19762975T>C	VUS	1 lab	abfd8e8f33
1:183072742 LAMC1 A>G	1	183072742	183072742	A	G	LAMC1	c.698A>G	NM_002293.4	NP_002284.3:p.(Asn233Ser)	NC_000001.10:g.183072742A>G	(Likely) benign	1 lab	ac03efb527
11:75438615 MOGAT2 C>T	11	75438615	75438615	C	T	MOGAT2	c.406C>T	NM_025098.4	NP_079374.2:p.(Arg136Cys)	NC_000011.9:g.75438615C>T	(Likely) benign	1 lab	ac0497e79d
15:77325189 PSTPIP1 C>CT	15	77325189	77325191	C	CT	PSTPIP1	c.839-12dup	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77325191dup	(Likely) benign	1 lab	2a12f051c5
2:179393074 TTN G>C	2	179393074	179393074	G	C	TTN	c.107304C>G	NM_001267550.2	NP_001254479.2:p.(Asp35768Glu)	NC_000002.11:g.179393074G>C	VUS	1 lab	ac05529c58
15:91453339 MAN2A2 C>G	15	91453339	91453339	C	G	MAN2A2	c.1394C>G	NM_006122.4	NP_006113.2:p.(Ser465Cys)	NC_000015.9:g.91453339C>G	VUS	1 lab	ac06bf3b6f
2:240036855 HDAC4 T>G	2	240036855	240036855	T	G	HDAC4	c.1685A>C	NM_001378414.1	NP_001365343.1:p.(Gln562Pro)	NC_000002.11:g.240036855T>G	(Likely) benign	1 lab	ac071686d7
22:38483165 BAIAP2L2 T>TCATGGGGGA	22	38483165	38483179	T	TCATGGGGGA	BAIAP2L2	c.1216_1224dup	NM_025045.6	NP_079321.3:p.(Ser406_Met408dup)	NC_000022.10:g.38483171_38483179dup	VUS	1 lab	ac073b41ce
1:181701887 CACNA1E C>G	1	181701887	181701887	C	G	CACNA1E	c.2665C>G	NM_001205293.3	NP_001192222.1:p.(His889Asp)	NC_000001.10:g.181701887C>G	(Likely) benign	1 lab	ac08019972
17:7644298 DNAH2 CAG>C	17	7644298	7644302	CAG	C	DNAH2	c.1680_1681del	NM_020877.5	NP_065928.2:p.(Arg560SerfsTer32)	NC_000017.10:g.7644301_7644302del	VUS	1 lab	ac081fe466
7:107559491 DLD TTGGAATA>T	7	107559491	107559502	TTGGAATA	T	DLD	c.1416_1422del	NM_000108.5	NP_000099.2:p.(Tyr473HisfsTer6)	NC_000007.13:g.107559496_107559502del	(Likely) pathogenic	1 lab	ac0915c677
13:32913856 BRCA2 C>T	13	32913856	32913856	C	T	BRCA2	c.5364C>T	NM_000059.4	NP_000050.3:p.(Ser1788=)	NC_000013.10:g.32913856C>T	(Likely) benign	1 lab	ac0a25ddab
11:108224481 ATM TCTTTA>T	11	108224481	108224491	TCTTTA	T	ATM	c.8672-6_8672-2del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224487_108224491del	VUS	1 lab	ac0b7ac08f
17:56056604 VEZF1 TTGCTGCTGCTGCTGC>T	17	56056604	56056644	TTGCTGCTGCTGCTGC	T	VEZF1	c.1032_1046del	NM_007146.3	NP_009077.2:p.(Gln350_Gln354del)	NC_000017.10:g.56056630_56056644del	VUS	1 lab	ac0cea5191
19:15315075 NOTCH3 C>A	19	15315075	15315075	C	A	NOTCH3				NC_000019.9:g.15315075C>A	(Likely) benign	1 lab	ac0d7343d6
19:13323451 CACNA1A C>T	19	13323451	13323451	C	T	CACNA1A	c.6044G>A	NM_001127222.2	NP_001120694.1:p.(Gly2015Glu)	NC_000019.9:g.13323451C>T	(Likely) benign	1 lab	ac0dfedd01
13:51530566 RNASEH2B A>G	13	51530566	51530566	A	G	RNASEH2B	c.895A>G	NM_024570.3	NP_078846.2:p.(Thr299Ala)	NC_000013.10:g.51530566A>G	(Likely) benign	1 lab	2a13ce9173
18:55912906 NEDD4L C>CT	18	55912906	55912930	C	CT	NEDD4L	c.204+190dup	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.55912930dup	(Likely) benign	1 lab	ac0ef31a85
4:20852258 KCNIP4 C>T	4	20852258	20852258	C	T	KCNIP4	c.196G>A	NM_025221.6	NP_079497.2:p.(Val66Ile)	NC_000004.11:g.20852258C>T	(Likely) benign	1 lab	ac1065989f
1:35484970 ZMYM6 A>G	1	35484970	35484970	A	G	ZMYM6	c.412T>C	NM_007167.4	NP_009098.3:p.(Cys138Arg)	NC_000001.10:g.35484970A>G	VUS	1 lab	ac10fabe2d
13:32906833 BRCA2 C>G	13	32906833	32906833	C	G	BRCA2	c.1218C>G	NM_000059.4	NP_000050.3:p.(Ala406=)	NC_000013.10:g.32906833C>G	(Likely) benign	1 lab	ac1100a289
1:173803665 DARS2 T>C	1	173803665	173803665	T	C	DARS2	c.663+8T>C	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173803665T>C	(Likely) benign	1 lab	ac11af5951
14:24729226 TGM1 C>G	14	24729226	24729226	C	G	TGM1	c.796G>C	NM_000359.3	NP_000350.1:p.(Glu266Gln)	NC_000014.8:g.24729226C>G	VUS	1 lab	ac126f02f3
12:6952186 GNB3 C>T	12	6952186	6952186	C	T	GNB3	c.149C>T	NM_002075.4	NP_002066.1:p.(Thr50Met)	NC_000012.11:g.6952186C>T	VUS	1 lab	ac12c7ba33
22:19495033 CDC45 G>C	22	19495033	19495033	G	C	CDC45	c.949G>C	NM_003504.5	NP_003495.1:p.(Asp317His)	NC_000022.10:g.19495033G>C	VUS	1 lab	ac140265e8
7:98509125 TRRAP A>G	7	98509125	98509125	A	G	TRRAP	c.2007+231A>G	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98509125A>G	(Likely) benign	1 lab	ac1483d5fb
17:29654706 NF1 A>C	17	29654706	29654706	A	C	NF1	c.5458A>C	NM_001042492.3	NP_001035957.1:p.(Ile1820Leu)	NC_000017.10:g.29654706A>C	VUS	1 lab	ac15759753
11:17428639 ABCC8 C>T	11	17428639	17428639	C	T	ABCC8	c.2958G>A	NM_000352.6	NP_000343.2:p.(Ser986=)	NC_000011.9:g.17428639C>T	(Likely) benign	1 lab	ac17199eec
7:21857881 DNAH11 T>G	7	21857881	21857881	T	G	DNAH11	c.10615T>G	NM_001277115.2	NP_001264044.1:p.(Leu3539Val)	NC_000007.13:g.21857881T>G	VUS	1 lab	ac17d27c79
6:160412313 IGF2R G>A	6	160412313	160412313	G	A	IGF2R	c.247G>A	NM_000876.4	NP_000867.3:p.(Val83Ile)	NC_000006.11:g.160412313G>A	(Likely) benign	1 lab	ac17eabc3a
4:37831691 PGM2 C>T	4	37831691	37831691	C	T	PGM2	c.187C>T	NM_018290.4	NP_060760.2:p.(Arg63Ter)	NC_000004.11:g.37831691C>T	VUS	1 lab	ac1832833d
4:101961641 PPP3CA G>A	4	101961641	101961641	G	A	PPP3CA	c.1239C>T	NM_000944.5	NP_000935.1:p.(Leu413=)	NC_000004.11:g.101961641G>A	(Likely) benign	1 lab	ac193f34a3
2:109545691 EDAR T>C	2	109545691	109545691	T	C	EDAR	c.319A>G	NM_022336.4	NP_071731.1:p.(Met107Val)	NC_000002.11:g.109545691T>C	(Likely) benign	1 lab	ac1a35e47a
19:42729843 ZNF526 A>C	19	42729843	42729843	A	C	ZNF526	c.1288A>C	NM_133444.3	NP_597701.1:p.(Thr430Pro)	NC_000019.9:g.42729843A>C	(Likely) benign	1 lab	ac1b08e49b
9:136199412 SURF6 C>T	9	136199412	136199412	C	T	SURF6	c.578G>A	NM_006753.6	NP_006744.2:p.(Arg193Gln)	NC_000009.11:g.136199412C>T	(Likely) benign	1 lab	ac1b6f177f
1:181453004 CACNA1E A>C	1	181453004	181453004	A	C	CACNA1E	c.124A>C	NM_001205293.3	NP_001192222.1:p.(Thr42Pro)	NC_000001.10:g.181453004A>C	(Likely) benign	1 lab	ac1ce21105
2:220333321 SPEG G>A	2	220333321	220333321	G	A	SPEG	c.3164G>A	NM_005876.5	NP_005867.3:p.(Arg1055Gln)	NC_000002.11:g.220333321G>A	(Likely) benign	1 lab	ac1ede199c
10:71562291 COL13A1 C>T	10	71562291	71562291	C	T	COL13A1	c.112C>T	NM_001368882.1	NP_001355811.1:p.(Arg38Trp)	NC_000010.10:g.71562291C>T	VUS	1 lab	ac1edfd5b3
19:18778931 KLHL26 C>T	19	18778931	18778931	C	T	KLHL26	c.724C>T	NM_018316.3	NP_060786.1:p.(Pro242Ser)	NC_000019.9:g.18778931C>T	VUS	1 lab	ac1f54b253
15:89384970 ACAN G>A	15	89384970	89384970	G	A	ACAN	c.630-1G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89384970G>A	VUS	1 lab	ac1ffb9932
4:175443191 HPGD CT>C	4	175443191	175443193	CT	C	HPGD	c.120del	NM_000860.6	NP_000851.2:p.(Ala41GlnfsTer31)	NC_000004.11:g.175443193del	(Likely) pathogenic	1 lab	ac211a1a83
22:41527394 EP300 A>G	22	41527394	41527394	A	G	EP300	c.1285A>G	NM_001429.4	NP_001420.2:p.(Ile429Val)	NC_000022.10:g.41527394A>G	(Likely) benign	1 lab	ac21b19b07
16:2042220 SYNGR3 G>A	16	2042220	2042220	G	A	SYNGR3	c.337+8G>A	NM_004209.6	NP_004200.2:p.?	NC_000016.9:g.2042220G>A	(Likely) benign	1 lab	ac222a53dd
15:38643474 SPRED1 C>T	15	38643474	38643474	C	T	SPRED1	c.944C>T	NM_152594.3	NP_689807.1:p.(Pro315Leu)	NC_000015.9:g.38643474C>T	VUS	1 lab	ac229297d3
1:78383336 NEXN T>C	1	78383336	78383336	T	C	NEXN	c.113T>C	NM_144573.4	NP_653174.3:p.(Met38Thr)	NC_000001.10:g.78383336T>C	VUS	1 lab	ac29d4d209
17:18394584 LGALS9C C>T	17	18394584	18394584	C	T	LGALS9C	c.577-3C>T	NM_001040078.3	NP_001035167.2:p.?	NC_000017.10:g.18394584C>T	(Likely) benign	1 lab	ac29ead383
X:54978349 PFKFB1 G>A	X	54978349	54978349	G	A	PFKFB1	c.835C>T	NM_002625.4	NP_002616.2:p.(Arg279Cys)	NC_000023.10:g.54978349G>A	(Likely) benign	1 lab	ac2a46356b
18:20555179 RBBP8 T>C	18	20555179	20555179	T	C	RBBP8	c.425T>C	NM_002894.3	NP_002885.1:p.(Ile142Thr)	NC_000018.9:g.20555179T>C	(Likely) benign	1 lab	ac2c040131
2:27591320 EIF2B4 C>T	2	27591320	27591320	C	T	EIF2B4	c.509G>A	NM_001034116.2	NP_001029288.1:p.(Arg170Gln)	NC_000002.11:g.27591320C>T	VUS	1 lab	ac2c2369ba
11:823744 PNPLA2 CACGG>C	11	823744	823748	CACGG	C	PNPLA2	c.809_812del	NM_020376.4	NP_065109.1:p.(His270ProfsTer49)	NC_000011.9:g.823745_823748del	(Likely) benign	1 lab	ac2ccd399e
X:153006054 ABCD1 G>A	X	153006054	153006054	G	A	ABCD1	c.1661G>A	NM_000033.4	NP_000024.2:p.(Arg554His)	NC_000023.10:g.153006054G>A	VUS	1 lab	ac2d6df1c5
1:153651759 NPR1 G>A	1	153651759	153651759	G	A	NPR1	c.175G>A	NM_000906.4	NP_000897.3:p.(Val59Met)	NC_000001.10:g.153651759G>A	VUS	1 lab	ac2dcca4d2
2:129075797 HS6ST1 A>C	2	129075797	129075797	A	C	HS6ST1	c.341T>G	NM_004807.3	NP_004798.3:p.(Val114Gly)	NC_000002.11:g.129075797A>C	VUS	1 lab	ac2e3df2fc
21:47540573 COL6A2 G>A	21	47540573	47540573	G	A	COL6A2	c.1395+82G>A	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47540573G>A	(Likely) benign	1 lab	2a199322ea
9:140446853 MRPL41 G>A	9	140446853	140446853	G	A	MRPL41	c.320G>A	NM_032477.3	NP_115866.1:p.(Gly107Asp)	NC_000009.11:g.140446853G>A	VUS	1 lab	ac2f5273cb
6:43488793 POLR1C A>G	6	43488793	43488793	A	G	POLR1C	c.922+7A>G	NM_203290.4	NP_976035.1:p.?	NC_000006.11:g.43488793A>G	VUS	1 lab	ac2ff2a77b
2:27695227 IFT172 C>T	2	27695227	27695227	C	T	IFT172	c.1414G>A	NM_015662.3	NP_056477.1:p.(Asp472Asn)	NC_000002.11:g.27695227C>T	VUS	1 lab	ac30bd37dc
14:64637133 SYNE2 G>A	14	64637133	64637133	G	A	SYNE2	c.17188G>A	NM_182914.3	NP_878918.2:p.(Glu5730Lys)	NC_000014.8:g.64637133G>A	(Likely) benign	1 lab	ac3127af3f
6:107956297 SOBP C>T	6	107956297	107956297	C	T	SOBP	c.2249C>T	NM_018013.4	NP_060483.3:p.(Pro750Leu)	NC_000006.11:g.107956297C>T	(Likely) benign	1 lab	ac325e75f4
7:44187310 GCK C>T	7	44187310	44187310	C	T	GCK	c.802G>A	NM_000162.5	NP_000153.1:p.(Glu268Lys)	NC_000007.13:g.44187310C>T	(Likely) pathogenic	1 lab	ac34dd74ff
14:100744170 YY1 T>C	14	100744170	100744170	T	C	YY1	c.*233T>C	NM_003403.5	NP_003394.1:p.?	NC_000014.8:g.100744170T>C	VUS	1 lab	ac35f87594
16:89809342 FANCA G>A	16	89809342	89809342	G	A	FANCA	c.3631C>T	NM_000135.4	NP_000126.2:p.(Leu1211Phe)	NC_000016.9:g.89809342G>A	(Likely) benign	1 lab	ac3737c661
12:51125283 DIP2B G>A	12	51125283	51125283	G	A	DIP2B	c.3773G>A	NM_173602.3	NP_775873.2:p.(Cys1258Tyr)	NC_000012.11:g.51125283G>A	VUS	1 lab	ac375a9e6d
2:189866279 COL3A1 C>G	2	189866279	189866279	C	G	COL3A1	c.2355C>G	NM_000090.4	NP_000081.2:p.(Pro785=)	NC_000002.11:g.189866279C>G	(Likely) benign	1 lab	ac37be2f88
7:20449248 ITGB8 C>T	7	20449248	20449248	C	T	ITGB8	c.2034C>T	NM_002214.3	NP_002205.1:p.(Ser678=)	NC_000007.13:g.20449248C>T	VUS	1 lab	ac37d4ab46
11:64033594 PLCB3 A>G	11	64033594	64033594	A	G	PLCB3	c.3190-4A>G	NM_000932.5	NP_000923.1:p.?	NC_000011.9:g.64033594A>G	(Likely) benign	1 lab	ac38359897
11:65984605 PACS1 C>T	11	65984605	65984605	C	T	PACS1	c.978+359C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65984605C>T	VUS	1 lab	ac3bb1cf71
1:152082484 TCHH G>T	1	152082484	152082484	G	T	TCHH	c.3209C>A	NM_007113.4	NP_009044.2:p.(Thr1070Lys)	NC_000001.10:g.152082484G>T	(Likely) benign	1 lab	ac3bc0407d
5:170837526 NPM1 T>C	5	170837526	170837526	T	C	NPM1	c.847-5T>C	NM_002520.7	NP_002511.1:p.?	NC_000005.9:g.170837526T>C	(Likely) benign	1 lab	ac3c0c2b0f
8:145542219 DGAT1 G>A	8	145542219	145542219	G	A	DGAT1	c.479C>T	NM_012079.6	NP_036211.2:p.(Thr160Met)	NC_000008.10:g.145542219G>A	VUS	1 lab	ac3ce79218
6:31912009 C2 G>C	6	31912009	31912009	G	C	C2	c.1902+6G>C	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31912009G>C	(Likely) benign	1 lab	2a19c491a2
21:38862516 DYRK1A G>T	21	38862516	38862516	G	T	DYRK1A	c.677G>T	NM_001347721.2	NP_001334650.1:p.(Cys226Phe)	NC_000021.8:g.38862516G>T	VUS	1 lab	ac3d7a5b5d
6:33132072 COL11A2 T>A	6	33132072	33132072	T	A	COL11A2	c.5042A>T	NM_080680.3	NP_542411.2:p.(Tyr1681Phe)	NC_000006.11:g.33132072T>A	VUS	1 lab	ac41a459ad
12:51089718 DIP2B G>A	12	51089718	51089718	G	A	DIP2B	c.1901G>A	NM_173602.3	NP_775873.2:p.(Arg634Gln)	NC_000012.11:g.51089718G>A	(Likely) benign	1 lab	ac427e4cd1
14:102551647 HSP90AA1 G>A	14	102551647	102551647	G	A	HSP90AA1	c.651C>T	NM_005348.4	NP_005339.3:p.(Pro217=)	NC_000014.8:g.102551647G>A	VUS	1 lab	ac4368a71e
20:62326186 RTEL1 C>T	20	62326186	62326186	C	T	RTEL1	c.3202C>T	NM_001283009.2	NP_001269938.1:p.(Arg1068Cys)	NC_000020.10:g.62326186C>T	(Likely) benign	1 lab	ac43b915f8
X:70321128 FOXO4 G>C	X	70321128	70321128	G	C	FOXO4	c.1048G>C	NM_005938.4	NP_005929.2:p.(Glu350Gln)	NC_000023.10:g.70321128G>C	VUS	1 lab	ac4532e622
X:10437590 MID1 C>G	X	10437590	10437590	C	G	MID1	c.1285+147G>C	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10437590C>G	(Likely) benign	1 lab	ac47d1f0c2
X:44171875 EFHC2 C>T	X	44171875	44171875	C	T	EFHC2	c.170G>A	NM_025184.4	NP_079460.2:p.(Cys57Tyr)	NC_000023.10:g.44171875C>T	(Likely) benign	1 lab	ac47daa323
13:20233188 MPHOSPH8 A>C	13	20233188	20233188	A	C	MPHOSPH8	c.1630A>C	NM_017520.4	NP_059990.2:p.(Lys544Gln)	NC_000013.10:g.20233188A>C	VUS	1 lab	ac48442e01
5:176601512 NSD1 G>A	5	176601512	176601512	G	A	NSD1	c.928-17373G>A	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176601512G>A	(Likely) benign	1 lab	ac48766a0f
17:37761882 NEUROD2 T>C	17	37761882	37761882	T	C	NEUROD2	c.971A>G	NM_006160.4	NP_006151.3:p.(His324Arg)	NC_000017.10:g.37761882T>C	VUS	1 lab	ac493d91c4
13:32676136 FRY G>C	13	32676136	32676136	G	C	FRY	c.307G>C	NM_023037.3	NP_075463.2:p.(Asp103His)	NC_000013.10:g.32676136G>C	VUS	1 lab	ac49c93331
X:31152255 DMD T>C	X	31152255	31152255	T	C	DMD	c.10978A>G	NM_004006.3	NP_003997.2:p.(Met3660Val)	NC_000023.10:g.31152255T>C	VUS	1 lab	ac4d587c3a
19:3810773 ZFR2 G>T	19	3810773	3810773	G	T	ZFR2	c.2408C>A	NM_015174.2	NP_055989.1:p.(Pro803His)	NC_000019.9:g.3810773G>T	VUS	1 lab	ac4ea10640
16:72821820 ZFHX3 A>T	16	72821820	72821820	A	T	ZFHX3	c.10355T>A	NM_006885.4	NP_008816.3:p.(Leu3452His)	NC_000016.9:g.72821820A>T	(Likely) benign	1 lab	ac4f0a608f
9:88201756 AGTPBP1 C>T	9	88201756	88201756	C	T	AGTPBP1	c.3023G>A	NM_001330701.2	NP_001317630.1:p.(Arg1008His)	NC_000009.11:g.88201756C>T	VUS	1 lab	ac539d029d
12:106804604 POLR3B G>A	12	106804604	106804604	G	A	POLR3B	c.967G>A	NM_018082.6	NP_060552.4:p.(Val323Ile)	NC_000012.11:g.106804604G>A	VUS	1 lab	ac54ba7dd3
15:89417156 ACAN C>T	15	89417156	89417156	C	T	ACAN	c.7531C>T	NM_001369268.1	NP_001356197.1:p.(Arg2511Trp)	NC_000015.9:g.89417156C>T	VUS	1 lab	ac57661c1b
8:41798529 KAT6A G>A	8	41798529	41798529	G	A	KAT6A	c.2870C>T	NM_006766.5	NP_006757.2:p.(Ala957Val)	NC_000008.10:g.41798529G>A	(Likely) benign	1 lab	ac5923ad8c
17:59763544 BRIP1 C>T	17	59763544	59763544	C	T	BRIP1	c.2576-18G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59763544C>T	(Likely) benign	1 lab	ac5958abbd
2:179401896 TTN G>A	2	179401896	179401896	G	A	TTN	c.99940C>T	NM_001267550.2	NP_001254479.2:p.(Pro33314Ser)	NC_000002.11:g.179401896G>A	VUS	1 lab	ac59a1079a
18:55282869 NARS1 T>C	18	55282869	55282869	T	C	NARS1	c.342+4A>G	NM_004539.4	NP_004530.1:p.?	NC_000018.9:g.55282869T>C	VUS	1 lab	ac5cdf80e9
2:96568655 ANKRD36C A>G	2	96568655	96568655	A	G	ANKRD36C	c.3244T>C	NM_001393982.1	NP_001380911.1:p.(Tyr1082His)	NC_000002.11:g.96568655A>G	VUS	1 lab	ac5f5c6462
5:13886231 DNAH5 C>A	5	13886231	13886231	C	A	DNAH5	c.2585G>T	NM_001369.3	NP_001360.1:p.(Cys862Phe)	NC_000005.9:g.13886231C>A	(Likely) benign	1 lab	ac622db07c
16:2141122 PKD1 C>T	16	2141122	2141122	C	T	PKD1	c.11766G>A	NM_001009944.3	NP_001009944.3:p.(Trp3922Ter)	NC_000016.9:g.2141122C>T	(Likely) pathogenic	1 lab	ac62d3044f
21:45710960 AIRE G>A	21	45710960	45710960	G	A	AIRE				NC_000021.8:g.45710960G>A	(Likely) benign	1 lab	2a1a968beb
21:47811302 PCNT C>T	21	47811302	47811302	C	T	PCNT	c.4216+11C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47811302C>T	(Likely) benign	1 lab	286ff50970
1:176525970 PAPPA2 C>G	1	176525970	176525970	C	G	PAPPA2	c.512C>G	NM_020318.3	NP_064714.2:p.(Thr171Ser)	NC_000001.10:g.176525970C>G	(Likely) benign	1 lab	ac66c28804
20:43726682 KCNS1 T>G	20	43726682	43726682	T	G	KCNS1	c.731A>C	NM_001322799.2	NP_001309728.1:p.(Glu244Ala)	NC_000020.10:g.43726682T>G	VUS	1 lab	ac6b48b660
2:179605894 TTN A>C	2	179605894	179605894	A	C	TTN	c.12066T>G	NM_001267550.2	NP_001254479.2:p.(Cys4022Trp)	NC_000002.11:g.179605894A>C	VUS	1 lab	ac6b4ae469
X:129150017 BCORL1 G>C	X	129150017	129150017	G	C	BCORL1	c.3269G>C	NM_001379451.1	NP_001366380.1:p.(Arg1090Pro)	NC_000023.10:g.129150017G>C	VUS	1 lab	ac6fb5e4a9
6:51934285 PKHD1 G>C	6	51934285	51934285	G	C	PKHD1	c.748C>G	NM_138694.4	NP_619639.3:p.(Gln250Glu)	NC_000006.11:g.51934285G>C	VUS	1 lab	ac7073bd96
1:145511851 RBM8A A>G	1	145511851	145511851	A	G	RBM8A	c.*2641A>G	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145511851A>G	VUS	1 lab	ac81e5f2f8
16:2139970 PKD1 TGAGCAGGGCCTC>T	16	2139970	2139984	TGAGCAGGGCCTC	T	PKD1	c.12658_12669del	NM_001009944.3	NP_001009944.3:p.(Glu4220_Leu4223del)	NC_000016.9:g.2139973_2139984del	(Likely) pathogenic	1 lab	ac7177e8e0
7:98517122 TRRAP G>C	7	98517122	98517122	G	C	TRRAP	c.2622+1820G>C	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98517122G>C	(Likely) benign	1 lab	ac72ae515a
16:77468565 ADAMTS18 C>T	16	77468565	77468565	C	T	ADAMTS18	c.28G>A	NM_199355.4	NP_955387.1:p.(Ala10Thr)	NC_000016.9:g.77468565C>T	(Likely) benign	1 lab	ac75146a27
2:220077165 ABCB6 G>A	2	220077165	220077165	G	A	ABCB6	c.1912C>T	NM_005689.4	NP_005680.1:p.(Arg638Cys)	NC_000002.11:g.220077165G>A	(Likely) benign	1 lab	ac75e84045
3:47164293 SETD2 C>A	3	47164293	47164293	C	A	SETD2	c.1833G>T	NM_014159.7	NP_054878.5:p.(Lys611Asn)	NC_000003.11:g.47164293C>A	(Likely) benign	1 lab	ac7654345c
6:152690244 SYNE1 G>C	6	152690244	152690244	G	C	SYNE1	c.9670C>G	NM_182961.4	NP_892006.3:p.(His3224Asp)	NC_000006.11:g.152690244G>C	(Likely) benign	1 lab	ac792ef571
10:75577281 CAMK2G T>C	10	75577281	75577281	T	C	CAMK2G	c.1395A>G	NM_001367534.1	NP_001354463.1:p.(Glu465=)	NC_000010.10:g.75577281T>C	(Likely) benign	1 lab	ac79bd0540
1:32800688 MARCKSL1 T>C	1	32800688	32800688	T	C	MARCKSL1	c.98A>G	NM_023009.7	NP_075385.1:p.(His33Arg)	NC_000001.10:g.32800688T>C	VUS	1 lab	ac7b1d2178
17:910401 ABR G>GTACCTGCGCCATGACGTCATGGGACCATCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGA	17	910401	910429	G	GTACCTGCGCCATGACGTCATGGGACCATCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGA	ABR	c.2490+3_2490+4insTCCTGGCACCGCCCGGGCCCGTGGCTGGCGGAGGGTGACGGTCCCATGACGTCATGGCGCAGGTACCCTGGCACCGCCCGGGCCCGTGGCTGGCGGAGGGTGATGGTCCCATGACGTCATGGCGCAGGTA	NM_021962.5	NP_068781.2:p.?	NC_000017.10:g.910428_910429insTCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGGTACCTGCGCCATGACGTCATGGGACCGTCACCCTCCGCCAGCCACGGGCCCGGGCGGTGCCAGGATACCTGCGCCATGACGTCATGGGACCA	VUS	1 lab	ac7c7b6237
2:219920519 IHH C>T	2	219920519	219920519	C	T	IHH	c.646G>A	NM_002181.4	NP_002172.2:p.(Ala216Thr)	NC_000002.11:g.219920519C>T	(Likely) benign	1 lab	ac7e6fb752
12:9009825 A2ML1 G>A	12	9009825	9009825	G	A	A2ML1	c.2914G>A	NM_144670.6	NP_653271.3:p.(Glu972Lys)	NC_000012.11:g.9009825G>A	(Likely) benign	1 lab	ac8232beeb
X:57936364 ZXDA G>A	X	57936364	57936364	G	A	ZXDA	c.491C>T	NM_007156.5	NP_009087.1:p.(Thr164Ile)	NC_000023.10:g.57936364G>A	(Likely) benign	1 lab	ac834762b6
6:117248549 RFX6 T>C	6	117248549	117248549	T	C	RFX6	c.2245T>C	NM_173560.4	NP_775831.2:p.(Tyr749His)	NC_000006.11:g.117248549T>C	VUS	1 lab	ac851d6e12
9:132584994 TOR1A T>C	9	132584994	132584994	T	C	TOR1A	c.310A>G	NM_000113.3	NP_000104.1:p.(Thr104Ala)	NC_000009.11:g.132584994T>C	(Likely) benign	1 lab	ac8681ffc1
12:57865558 GLI1 G>T	12	57865558	57865558	G	T	GLI1	c.3035G>T	NM_005269.3	NP_005260.1:p.(Gly1012Val)	NC_000012.11:g.57865558G>T	(Likely) benign	1 lab	ac8942bfc9
10:123243316 FGFR2 A>C	10	123243316	123243316	A	C	FGFR2	c.2197T>G	NM_000141.5	NP_000132.3:p.(Tyr733Asp)	NC_000010.10:g.123243316A>C	(Likely) pathogenic	1 lab	ac89f6bb0a
7:40132561 CDK13 C>G	7	40132561	40132561	C	G	CDK13	c.3413C>G	NM_003718.5	NP_003709.3:p.(Thr1138Arg)	NC_000007.13:g.40132561C>G	VUS	1 lab	ac8ac335e6
17:7753142 KDM6B T>G	17	7753142	7753142	T	G	KDM6B	c.3444T>G	NM_001348716.2	NP_001335645.1:p.(Asn1148Lys)	NC_000017.10:g.7753142T>G	VUS	1 lab	ac8b1578c8
19:50812350 MYH14 G>A	19	50812350	50812350	G	A	MYH14	c.5876G>A	NM_001145809.2	NP_001139281.1:p.(Arg1959Gln)	NC_000019.9:g.50812350G>A	VUS	1 lab	ac8b6877bc
17:5290414 NUP88 G>A	17	5290414	5290414	G	A	NUP88	c.1933C>T	NM_002532.6	NP_002523.2:p.(His645Tyr)	NC_000017.10:g.5290414G>A	(Likely) benign	1 lab	ac8c30a94a
14:51062343 ATL1 C>T	14	51062343	51062343	C	T	ATL1	c.623C>T	NM_015915.5	NP_056999.2:p.(Pro208Leu)	NC_000014.8:g.51062343C>T	VUS	1 lab	ac8fc88652
16:9934662 GRIN2A A>G	16	9934662	9934662	A	G	GRIN2A	c.1498-5T>C	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9934662A>G	(Likely) benign	1 lab	ac8fe3a872
19:38796089 YIF1B C>G	19	38796089	38796089	C	G	YIF1B	c.848G>C	NM_001039672.3	NP_001034761.1:p.(Arg283Pro)	NC_000019.9:g.38796089C>G	VUS	1 lab	ac900583b2
4:1719150 TMEM129 C>T	4	1719150	1719150	C	T	TMEM129	c.846G>A	NM_001127266.2	NP_001120738.1:p.(Leu282=)	NC_000004.11:g.1719150C>T	(Likely) benign	1 lab	ac910ef28c
4:88995974 PKD2 C>T	4	88995974	88995974	C	T	PKD2	c.2533C>T	NM_000297.4	NP_000288.1:p.(Arg845Ter)	NC_000004.11:g.88995974C>T	(Likely) pathogenic	1 lab	ac91b0f6a4
2:72362439 CYP26B1 T>C	2	72362439	72362439	T	C	CYP26B1	c.539A>G	NM_019885.4	NP_063938.1:p.(Asn180Ser)	NC_000002.11:g.72362439T>C	VUS	1 lab	ac9220aebb
5:60628774 ZSWIM6 C>T	5	60628774	60628774	C	T	ZSWIM6	c.675C>T	NM_020928.2	NP_065979.1:p.(Val225=)	NC_000005.9:g.60628774C>T	(Likely) benign	1 lab	ac924cca44
16:28905547 ATP2A1 C>T	16	28905547	28905547	C	T	ATP2A1	c.1167C>T	NM_173201.4	NP_775293.1:p.(Tyr389=)	NC_000016.9:g.28905547C>T	(Likely) benign	1 lab	2a2243765c
16:29810754 KIF22 C>T	16	29810754	29810754	C	T	KIF22	c.929C>T	NM_007317.3	NP_015556.1:p.(Ala310Val)	NC_000016.9:g.29810754C>T	VUS	1 lab	ac92bd141f
3:48457545 PLXNB1 C>T	3	48457545	48457545	C	T	PLXNB1	c.3512G>A	NM_001130082.3	NP_001123554.1:p.(Arg1171His)	NC_000003.11:g.48457545C>T	VUS	1 lab	ac961207a4
1:23845589 E2F2 A>T	1	23845589	23845589	A	T	E2F2	c.771T>A	NM_004091.4	NP_004082.1:p.(Ala257=)	NC_000001.10:g.23845589A>T	(Likely) benign	1 lab	ac966cb974
16:72845583 ZFHX3 G>A	16	72845583	72845583	G	A	ZFHX3	c.3757C>T	NM_006885.4	NP_008816.3:p.(Arg1253Cys)	NC_000016.9:g.72845583G>A	(Likely) benign	1 lab	ac9a9b0614
8:8750243 MFHAS1 A>C	8	8750243	8750243	A	C	MFHAS1	c.326T>G	NM_004225.3	NP_004216.2:p.(Leu109Arg)	NC_000008.10:g.8750243A>C	VUS	1 lab	d95c068801
6:31635711 CSNK2B C>T	6	31635711	31635711	C	T	CSNK2B	c.139C>T	NM_001320.7	NP_001311.3:p.(Arg47Ter)	NC_000006.11:g.31635711C>T	(Likely) pathogenic	1 lab	ac9ecd97c9
15:52820968 MYO5A G>A	15	52820968	52820968	G	A	MYO5A	c.27+9C>T	NM_001382347.1	NP_001369276.1:p.?	NC_000015.9:g.52820968G>A	(Likely) benign	1 lab	ac9ee693f3
16:67233278 ELMO3 G>A	16	67233278	67233278	G	A	ELMO3	c.49G>A	NM_024712.5	NP_078988.3:p.(Ala17Thr)	NC_000016.9:g.67233278G>A	VUS	1 lab	ac9f4617a5
15:75183874 MPI T>C	15	75183874	75183874	T	C	MPI	c.299T>C	NM_002435.3	NP_002426.1:p.(Val100Ala)	NC_000015.9:g.75183874T>C	VUS	1 lab	ac9fac30f4
19:36213322 KMT2B G>A	19	36213322	36213322	G	A	KMT2B	c.2519G>A	NM_014727.3	NP_055542.1:p.(Gly840Asp)	NC_000019.9:g.36213322G>A	(Likely) benign	1 lab	aca04b1978
11:17452512 ABCC8 G>T	11	17452512	17452512	G	T	ABCC8	c.1672-6C>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17452512G>T	(Likely) benign	1 lab	aca4ce00de
15:74483180 STRA6 C>T	15	74483180	74483180	C	T	STRA6	c.927+1G>A	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74483180C>T	(Likely) pathogenic	1 lab	aca932e37c
22:50903295 SBF1 G>A	22	50903295	50903295	G	A	SBF1	c.1384C>T	NM_002972.4	NP_002963.2:p.(Arg462Cys)	NC_000022.10:g.50903295G>A	VUS	1 lab	acad2b2010
1:180471298 ACBD6 TC>T	1	180471298	180471299	TC	T	ACBD6	c.103del	NM_032360.4	NP_115736.1:p.(Glu35ArgfsTer22)	NC_000001.10:g.180471299del	(Likely) pathogenic	1 lab	acad2c54cf
6:129799912 LAMA2 T>C	6	129799912	129799912	T	C	LAMA2	c.7526T>C	NM_000426.4	NP_000417.3:p.(Leu2509Pro)	NC_000006.11:g.129799912T>C	VUS	1 lab	acad59e8fb
17:48431013 XYLT2 G>A	17	48431013	48431013	G	A	XYLT2	c.158G>A	NM_022167.4	NP_071450.2:p.(Arg53Gln)	NC_000017.10:g.48431013G>A	(Likely) benign	1 lab	acae799c7f
16:3789641 CREBBP ATCCACGCCG>A	16	3789641	3789652	ATCCACGCCG	A	CREBBP	c.4209_4217del	NM_004380.3	NP_004371.2:p.(Gly1404_Asp1406del)	NC_000016.9:g.3789644_3789652del	(Likely) pathogenic	1 lab	acb04fa966
7:94055323 COL1A2 C>T	7	94055323	94055323	C	T	COL1A2	c.2957C>T	NM_000089.4	NP_000080.2:p.(Pro986Leu)	NC_000007.13:g.94055323C>T	VUS	1 lab	acb0754962
X:22291647 CBLL2 T>A	X	22291647	22291647	T	A	CBLL2	c.539T>A	NM_152577.4	NP_689790.1:p.(Ile180Asn)	NC_000023.10:g.22291647T>A	VUS	1 lab	acea02f32e
1:38280953 MTF1 T>C	1	38280953	38280953	T	C	MTF1	c.2117A>G	NM_005955.3	NP_005946.2:p.(Asp706Gly)	NC_000001.10:g.38280953T>C	(Likely) benign	1 lab	acb0b95b8d
16:88497701 ZNF469 A>G	16	88497701	88497701	A	G	ZNF469	c.3823A>G	NM_001367624.2	NP_001354553.1:p.(Thr1275Ala)	NC_000016.9:g.88497701A>G	(Likely) benign	1 lab	acb0db2531
3:195974393 PCYT1A G>A	3	195974393	195974393	G	A	PCYT1A	c.335-4C>T	NM_001312673.2	NP_001299602.1:p.?	NC_000003.11:g.195974393G>A	(Likely) benign	1 lab	acb0deedf9
10:100182151 HPS1 G>C	10	100182151	100182151	G	C	HPS1	c.1718C>G	NM_000195.5	NP_000186.2:p.(Pro573Arg)	NC_000010.10:g.100182151G>C	VUS	1 lab	acb159803d
X:17745479 NHS C>A	X	17745479	17745479	C	A	NHS	c.3253C>A	NM_001291867.2	NP_001278796.1:p.(Pro1085Thr)	NC_000023.10:g.17745479C>A	VUS	1 lab	acb280394f
15:89834846 FANCI A>C	15	89834846	89834846	A	C	FANCI	c.1893A>C	NM_001113378.2	NP_001106849.1:p.(Leu631Phe)	NC_000015.9:g.89834846A>C	(Likely) benign	1 lab	acb3b9a063
1:233335945 PCNX2 T>C	1	233335945	233335945	T	C	PCNX2	c.2929A>G	NM_014801.4	NP_055616.3:p.(Thr977Ala)	NC_000001.10:g.233335945T>C	(Likely) benign	1 lab	acb55d3c3b
8:11566197 GATA4 G>A	8	11566197	11566197	G	A	GATA4	c.376G>A	NM_001308093.3	NP_001295022.1:p.(Ala126Thr)	NC_000008.10:g.11566197G>A	VUS	1 lab	acb57807c2
16:1245529 CACNA1H C>A	16	1245529	1245529	C	A	CACNA1H	c.509C>A	NM_021098.3	NP_066921.2:p.(Thr170Lys)	NC_000016.9:g.1245529C>A	VUS	1 lab	acb651eca2
3:129284352 PLXND1 G>A	3	129284352	129284352	G	A	PLXND1	c.4352C>T	NM_015103.3	NP_055918.3:p.(Ala1451Val)	NC_000003.11:g.129284352G>A	VUS	1 lab	acb75007f4
2:170371408 KLHL41 A>G	2	170371408	170371408	A	G	KLHL41	c.1313A>G	NM_006063.3	NP_006054.2:p.(Tyr438Cys)	NC_000002.11:g.170371408A>G	VUS	1 lab	acbc1091bd
14:20872802 TEP1 A>G	14	20872802	20872802	A	G	TEP1	c.1000T>C	NM_007110.5	NP_009041.2:p.(Ser334Pro)	NC_000014.8:g.20872802A>G	VUS	1 lab	acbc7b1cfd
2:25966142 ASXL2 T>C	2	25966142	25966142	T	C	ASXL2	c.3064A>G	NM_018263.6	NP_060733.4:p.(Lys1022Glu)	NC_000002.11:g.25966142T>C	VUS	1 lab	acbd8c7908
5:42565969 GHR C>G	5	42565969	42565969	C	G	GHR	c.-8C>G	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42565969C>G	(Likely) benign	1 lab	acbebcbcd4
14:99977069 CCNK C>T	14	99977069	99977069	C	T	CCNK	c.1693C>T	NM_001099402.2	NP_001092872.1:p.(Pro565Ser)	NC_000014.8:g.99977069C>T	VUS	1 lab	acbedcdc14
7:83631351 SEMA3A C>T	7	83631351	83631351	C	T	SEMA3A	c.1372G>A	NM_006080.3	NP_006071.1:p.(Val458Ile)	NC_000007.13:g.83631351C>T	VUS	1 lab	acbee4edfa
7:151935111 KMT2C AC>A	7	151935111	151935112	AC	A	KMT2C	c.2652+680del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151935112del	(Likely) benign	1 lab	acbfbbc501
3:189590774 TP63 C>T	3	189590774	189590774	C	T	TP63	c.1339C>T	NM_003722.5	NP_003713.3:p.(Leu447Phe)	NC_000003.11:g.189590774C>T	VUS	1 lab	acc1520302
1:22417917 CDC42 T>A	1	22417917	22417917	T	A	CDC42	c.487-4T>A	NM_001791.4	NP_001782.1:p.?	NC_000001.10:g.22417917T>A	(Likely) benign	1 lab	acc18cbee8
5:86658440 RASA1 G>C	5	86658440	86658440	G	C	RASA1	c.1405G>C	NM_002890.3	NP_002881.1:p.(Asp469His)	NC_000005.9:g.86658440G>C	VUS	1 lab	acc199dda7
16:354425 AXIN1 G>C	16	354425	354425	G	C	AXIN1	c.1133C>G	NM_003502.4	NP_003493.1:p.(Pro378Arg)	NC_000016.9:g.354425G>C	(Likely) benign	1 lab	acc1f16625
10:71158360 HK1 A>C	10	71158360	71158360	A	C	HK1	c.2385A>C	NM_000188.3	NP_000179.2:p.(Leu795Phe)	NC_000010.10:g.71158360A>C	VUS	1 lab	d95ca8ab6f
4:166999164 TLL1 T>C	4	166999164	166999164	T	C	TLL1	c.2424T>C	NM_012464.5	NP_036596.3:p.(Pro808=)	NC_000004.11:g.166999164T>C	(Likely) benign	1 lab	acc3c64617
1:120285475 PHGDH G>A	1	120285475	120285475	G	A	PHGDH	c.1255G>A	NM_006623.4	NP_006614.2:p.(Gly419Arg)	NC_000001.10:g.120285475G>A	VUS	1 lab	acc68611ce
1:237838114 RYR2 T>G	1	237838114	237838114	T	G	RYR2	c.8798T>G	NM_001035.3	NP_001026.2:p.(Val2933Gly)	NC_000001.10:g.237838114T>G	(Likely) benign	1 lab	acc9f77305
19:42799131 CIC C>T	19	42799131	42799131	C	T	CIC	c.7342C>T	NM_001386298.1	NP_001373227.1:p.(Pro2448Ser)	NC_000019.9:g.42799131C>T	(Likely) benign	1 lab	accbb06cc5
9:131708619 DOLK G>A	9	131708619	131708619	G	A	DOLK	c.964C>T	NM_014908.4	NP_055723.1:p.(Arg322Trp)	NC_000009.11:g.131708619G>A	(Likely) benign	1 lab	accc01fbba
15:89401248 ACAN G>A	15	89401248	89401248	G	A	ACAN	c.5432G>A	NM_001369268.1	NP_001356197.1:p.(Gly1811Glu)	NC_000015.9:g.89401248G>A	VUS	1 lab	accc937256
15:89398236 ACAN C>G	15	89398236	89398236	C	G	ACAN	c.2420C>G	NM_001369268.1	NP_001356197.1:p.(Pro807Arg)	NC_000015.9:g.89398236C>G	VUS	1 lab	accdcd0d6b
12:88477695 CEP290 G>A	12	88477695	88477695	G	A	CEP290	c.4741C>T	NM_025114.4	NP_079390.3:p.(Leu1581Phe)	NC_000012.11:g.88477695G>A	VUS	1 lab	accdd141e1
5:167927579 RARS1 A>AAT	5	167927579	167927592	A	AAT	RARS1	c.823-5_823-4dup	NM_002887.4	NP_002878.2:p.?	NC_000005.9:g.167927591_167927592dup	(Likely) benign	1 lab	acce6c9a25
15:99452048 IGF1R G>A	15	99452048	99452048	G	A	IGF1R	c.1382G>A	NM_000875.5	NP_000866.1:p.(Arg461His)	NC_000015.9:g.99452048G>A	VUS	1 lab	accea228be
19:50365850 PNKP G>A	19	50365850	50365850	G	A	PNKP	c.881C>T	NM_007254.4	NP_009185.2:p.(Pro294Leu)	NC_000019.9:g.50365850G>A	(Likely) benign	1 lab	acd04b7736
5:78264853 ARSB G>A	5	78264853	78264853	G	A	ARSB	c.475C>T	NM_000046.5	NP_000037.2:p.(Arg159Cys)	NC_000005.9:g.78264853G>A	VUS	1 lab	acd056559b
5:149748403 TCOF1 C>T	5	149748403	149748403	C	T	TCOF1	c.503C>T	NM_001371623.1	NP_001358552.1:p.(Thr168Met)	NC_000005.9:g.149748403C>T	(Likely) benign	1 lab	acd0bc0ea6
4:1808631 FGFR3 G>A	4	1808631	1808631	G	A	FGFR3	c.2244G>A	NM_000142.5	NP_000133.1:p.(Leu748=)	NC_000004.11:g.1808631G>A	VUS	1 lab	acd12b3288
9:131396264 DYNC2I2 G>A	9	131396264	131396264	G	A	DYNC2I2	c.1373-3C>T	NM_052844.4	NP_443076.2:p.?	NC_000009.11:g.131396264G>A	(Likely) benign	1 lab	acd2b93f1c
1:144863438 PDE4DIP G>T	1	144863438	144863438	G	T	PDE4DIP	c.6163C>A	NM_001395426.1	NP_001382355.1:p.(Gln2055Lys)	NC_000001.10:g.144863438G>T	(Likely) benign	1 lab	acd34a5985
6:29640787 ZFP57 C>G	6	29640787	29640787	C	G	ZFP57	c.1101G>C	NM_001109809.5	NP_001103279.2:p.(Gln367His)	NC_000006.11:g.29640787C>G	(Likely) benign	1 lab	acd4191b00
11:89028497 TYR AAG>A	11	89028497	89028501	AAG	A	TYR	c.1556_1557del	NM_000372.5	NP_000363.1:p.(Glu519GlyfsTer27)	NC_000011.9:g.89028500_89028501del	VUS	1 lab	acd4ec67c0
12:115118722 TBX3 G>A	12	115118722	115118722	G	A	TBX3	c.619C>T	NM_005996.4	NP_005987.3:p.(Leu207=)	NC_000012.11:g.115118722G>A	(Likely) benign	1 lab	acd5899bc9
14:103442068 CDC42BPB ATTTC>A	14	103442068	103442075	ATTTC	A	CDC42BPB	c.1456_1459del	NM_006035.4	NP_006026.3:p.(Glu486SerfsTer4)	NC_000014.8:g.103442072_103442075del	(Likely) pathogenic	1 lab	acd6563dc3
16:72821187 ZFHX3 T>C	16	72821187	72821187	T	C	ZFHX3	c.10988A>G	NM_006885.4	NP_008816.3:p.(Glu3663Gly)	NC_000016.9:g.72821187T>C	VUS	1 lab	acd92d6d9e
9:80046237 GNA14 C>T	9	80046237	80046237	C	T	GNA14	c.593G>A	NM_004297.4	NP_004288.1:p.(Arg198Gln)	NC_000009.11:g.80046237C>T	VUS	1 lab	acd94c66ec
19:36394268 HCST C>T	19	36394268	36394268	C	T	HCST	c.59C>T	NM_014266.4	NP_055081.1:p.(Thr20Met)	NC_000019.9:g.36394268C>T	VUS	1 lab	acd9f03f62
5:126758383 MEGF10 T>C	5	126758383	126758383	T	C	MEGF10	c.1612T>C	NM_001256545.2	NP_001243474.1:p.(Cys538Arg)	NC_000005.9:g.126758383T>C	VUS	1 lab	acdac5f43c
1:237753971 RYR2 C>T	1	237753971	237753971	C	T	RYR2	c.3839C>T	NM_001035.3	NP_001026.2:p.(Ser1280Phe)	NC_000001.10:g.237753971C>T	(Likely) benign	1 lab	acdc84ea0d
4:1808320 FGFR3 C>A	4	1808320	1808320	C	A	FGFR3	c.2078C>A	NM_000142.5	NP_000133.1:p.(Ser693Tyr)	NC_000004.11:g.1808320C>A	VUS	1 lab	acdccc14e2
9:135947049 CEL CGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCT>C	9	135947049	135947083	CGGGGCCCCCCCTGTGCCCCCCACGGGTGACTCT	C	CEL	c.2162_2194del	NM_001807.6	NP_001798.3:p.(Gly721_Ser731del)	NC_000009.11:g.135947051_135947083del	(Likely) benign	1 lab	acdd772f2e
6:84881373 CEP162 C>T	6	84881373	84881373	C	T	CEP162	c.2231G>A	NM_014895.4	NP_055710.2:p.(Arg744Gln)	NC_000006.11:g.84881373C>T	(Likely) benign	1 lab	acde200334
5:140782951 PCDHGB4 A>C	5	140782951	140782951	A	C	PCDHGB4	c.2397+13103A>C	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140782951A>C	(Likely) benign	1 lab	acde56b384
16:67265541 FHOD1 C>T	16	67265541	67265541	C	T	FHOD1	c.2384G>A	NM_013241.3	NP_037373.2:p.(Arg795Gln)	NC_000016.9:g.67265541C>T	VUS	1 lab	acdff1ad98
5:118969703 FAM170A C>T	5	118969703	118969703	C	T	FAM170A	c.260C>T	NM_001367956.1	NP_001354885.1:p.(Ala87Val)	NC_000005.9:g.118969703C>T	(Likely) benign	1 lab	ace01ef3a5
5:42689061 GHR C>T	5	42689061	42689061	C	T	GHR	c.206C>T	NM_000163.5	NP_000154.1:p.(Thr69Ile)	NC_000005.9:g.42689061C>T	VUS	1 lab	ace157da98
1:113650198 LRIG2 CTCTTT>C	1	113650198	113650208	CTCTTT	C	LRIG2	c.1314-12_1314-8del	NM_014813.3	NP_055628.1:p.?	NC_000001.10:g.113650204_113650208del	VUS	1 lab	ace1a51018
11:19207893 CSRP3 G>C	11	19207893	19207893	G	C	CSRP3				NC_000011.9:g.19207893G>C	VUS	1 lab	6a28d9fe84
2:209210845 PIKFYVE G>C	2	209210845	209210845	G	C	PIKFYVE	c.5183G>C	NM_015040.4	NP_055855.2:p.(Arg1728Pro)	NC_000002.11:g.209210845G>C	VUS	1 lab	2874bac576
13:39261663 FREM2 C>A	13	39261663	39261663	C	A	FREM2	c.182C>A	NM_207361.6	NP_997244.4:p.(Ala61Glu)	NC_000013.10:g.39261663C>A	VUS	1 lab	ace4ae9b9e
19:15302276 NOTCH3 C>T	19	15302276	15302276	C	T	NOTCH3	c.995G>A	NM_000435.3	NP_000426.2:p.(Arg332His)	NC_000019.9:g.15302276C>T	VUS	1 lab	ace5773a8a
16:70530255 COG4 C>T	16	70530255	70530255	C	T	COG4	c.1561G>A	NM_015386.3	NP_056201.2:p.(Val521Met)	NC_000016.9:g.70530255C>T	(Likely) benign	1 lab	ace577649f
1:169080628 ATP1B1 G>A	1	169080628	169080628	G	A	ATP1B1	c.118G>A	NM_001677.4	NP_001668.1:p.(Val40Ile)	NC_000001.10:g.169080628G>A	(Likely) benign	1 lab	ace57d0556
4:103790246 CISD2 TGCTGGA>T	4	103790246	103790253	TGCTGGA	T	CISD2	c.7_12del	NM_001008388.5	NP_001008389.1:p.(Leu3_Glu4del)	NC_000004.11:g.103790248_103790253del	(Likely) benign	1 lab	ace61890f2
11:14520375 COPB1 G>A	11	14520375	14520375	G	A	COPB1	c.91+9C>T	NM_001144061.2	NP_001137533.1:p.?	NC_000011.9:g.14520375G>A	(Likely) benign	1 lab	ace7c1a922
2:86272856 POLR1A G>A	2	86272856	86272856	G	A	POLR1A	c.2770C>T	NM_015425.6	NP_056240.2:p.(Arg924Trp)	NC_000002.11:g.86272856G>A	VUS	1 lab	ace9125d5b
5:37048513 NIPBL G>A	5	37048513	37048513	G	A	NIPBL	c.6590-91G>A	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37048513G>A	(Likely) benign	1 lab	ace9d6f4f9
8:41790055 KAT6A G>A	8	41790055	41790055	G	A	KAT6A	c.5683C>T	NM_006766.5	NP_006757.2:p.(Arg1895Cys)	NC_000008.10:g.41790055G>A	(Likely) benign	1 lab	acea0535ab
14:64723951 ESR2 G>A	14	64723951	64723951	G	A	ESR2	c.1084C>T	NM_001437.3	NP_001428.1:p.(Leu362=)	NC_000014.8:g.64723951G>A	(Likely) benign	1 lab	aceb3d7d94
15:51693813 GLDN G>A	15	51693813	51693813	G	A	GLDN	c.1051G>A	NM_181789.4	NP_861454.2:p.(Asp351Asn)	NC_000015.9:g.51693813G>A	(Likely) benign	1 lab	acecfa5d27
9:21227729 IFNA17 T>A	9	21227729	21227729	T	A	IFNA17	c.444A>T	NM_021268.2	NP_067091.1:p.(Gln148His)	NC_000009.11:g.21227729T>A	VUS	1 lab	acedaf924d
2:145156050 ZEB2 T>C	2	145156050	145156050	T	C	ZEB2	c.2704A>G	NM_014795.4	NP_055610.1:p.(Ser902Gly)	NC_000002.11:g.145156050T>C	VUS	1 lab	acef28d877
12:12871180 CDKN1B A>G	12	12871180	12871180	A	G	CDKN1B	c.407A>G	NM_004064.5	NP_004055.1:p.(Asp136Gly)	NC_000012.11:g.12871180A>G	VUS	1 lab	acf0d7e597
2:71901373 DYSF G>C	2	71901373	71901373	G	C	DYSF	c.5831G>C	NM_001130987.2	NP_001124459.1:p.(Arg1944Pro)	NC_000002.11:g.71901373G>C	(Likely) benign	1 lab	acf11aedf2
6:129774269 LAMA2 C>A	6	129774269	129774269	C	A	LAMA2	c.6566C>A	NM_000426.4	NP_000417.3:p.(Ala2189Asp)	NC_000006.11:g.129774269C>A	VUS	1 lab	acf1bc74f5
2:202466507 CATSPERT C>G	2	202466507	202466507	C	G	CATSPERT	c.471G>C	NM_001168221.2	NP_001161693.1:p.(Lys157Asn)	NC_000002.11:g.202466507C>G	VUS	1 lab	acf2ca92b5
15:78317594 TBC1D2B A>T	15	78317594	78317594	A	T	TBC1D2B	c.1086+7T>A	NM_144572.2	NP_653173.1:p.?	NC_000015.9:g.78317594A>T	(Likely) benign	1 lab	acf2d37ebd
8:2007304 MYOM2 G>A	8	2007304	2007304	G	A	MYOM2	c.591G>A	NM_003970.4	NP_003961.3:p.(Ala197=)	NC_000008.10:g.2007304G>A	(Likely) benign	1 lab	2a2d2537ef
12:6691895 CHD4 C>T	12	6691895	6691895	C	T	CHD4	c.4256G>A	NM_001273.5	NP_001264.2:p.(Arg1419His)	NC_000012.11:g.6691895C>T	(Likely) pathogenic	1 lab	28793edf62
1:1246390 PUSL1 C>G	1	1246390	1246390	C	G	PUSL1	c.801C>G	NM_153339.3	NP_699170.1:p.(His267Gln)	NC_000001.10:g.1246390C>G	VUS	1 lab	acf45608e0
4:88537324 DSPP CAGCAGCGAT>C	4	88537324	88537338	CAGCAGCGAT	C	DSPP	c.3516_3524del	NM_014208.3	NP_055023.2:p.(Asp1176_Ser1178del)	NC_000004.11:g.88537330_88537338del	(Likely) benign	1 lab	acf4c5cb64
15:89402308 ACAN C>G	15	89402308	89402308	C	G	ACAN	c.6492C>G	NM_001369268.1	NP_001356197.1:p.(Ala2164=)	NC_000015.9:g.89402308C>G	(Likely) benign	1 lab	acf4fd2b92
2:170058315 LRP2 G>A	2	170058315	170058315	G	A	LRP2	c.8275C>T	NM_004525.3	NP_004516.2:p.(Arg2759Cys)	NC_000002.11:g.170058315G>A	VUS	1 lab	acf5c86835
20:50401036 SALL4 T>C	20	50401036	50401036	T	C	SALL4	c.2930A>G	NM_020436.5	NP_065169.1:p.(Asn977Ser)	NC_000020.10:g.50401036T>C	(Likely) benign	1 lab	acf6ee73d9
3:81698114 GBE1 C>T	3	81698114	81698114	C	T	GBE1	c.584G>A	NM_000158.4	NP_000149.4:p.(Arg195Gln)	NC_000003.11:g.81698114C>T	VUS	1 lab	acf7109695
3:52478949 SEMA3G C>T	3	52478949	52478949	C	T	SEMA3G	c.95G>A	NM_020163.3	NP_064548.1:p.(Arg32His)	NC_000003.11:g.52478949C>T	(Likely) benign	1 lab	acf7194abc
2:37459360 NDUFAF7 C>T	2	37459360	37459360	C	T	NDUFAF7	c.167C>T	NM_144736.5	NP_653337.1:p.(Pro56Leu)	NC_000002.11:g.37459360C>T	VUS	1 lab	acf7253cd6
2:51150619 NRXN1 A>T	2	51150619	51150619	A	T	NRXN1	c.791-794T>A	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.51150619A>T	(Likely) benign	1 lab	2a2d5303ce
16:30721033 SRCAP C>G	16	30721033	30721033	C	G	SRCAP	c.833C>G	NM_006662.3	NP_006653.2:p.(Pro278Arg)	NC_000016.9:g.30721033C>G	(Likely) benign	1 lab	acf72bf51e
9:135947051 CEL G>A	9	135947051	135947051	G	A	CEL	c.2162G>A	NM_001807.6	NP_001798.3:p.(Gly721Glu)	NC_000009.11:g.135947051G>A	(Likely) benign	1 lab	acf7f299da
19:4365606 SH3GL1 C>T	19	4365606	4365606	C	T	SH3GL1	c.204G>A	NM_003025.4	NP_003016.1:p.(Leu68=)	NC_000019.9:g.4365606C>T	(Likely) benign	1 lab	acf993b917
16:2287119 DNASE1L2 G>C	16	2287119	2287119	G	C	DNASE1L2	c.225G>C	NM_001374.3	NP_001365.1:p.(Gln75His)	NC_000016.9:g.2287119G>C	VUS	1 lab	acfa33318a
17:40353828 STAT5B G>A	17	40353828	40353828	G	A	STAT5B	c.2292C>T	NM_012448.4	NP_036580.2:p.(Asp764=)	NC_000017.10:g.40353828G>A	(Likely) benign	1 lab	acfa6057a8
20:62051026 KCNQ2 C>G	20	62051026	62051026	C	G	KCNQ2	c.1248-1G>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62051026C>G	VUS	1 lab	acfaabf1b9
11:121175125 SC5D TTC>T	11	121175125	121175128	TTC	T	SC5D	c.268_269del	NM_006918.5	NP_008849.2:p.(Leu90TyrfsTer17)	NC_000011.9:g.121175127_121175128del	VUS	1 lab	acfb09f263
4:1808058 FGFR3 C>T	4	1808058	1808058	C	T	FGFR3	c.2030+4C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808058C>T	(Likely) benign	1 lab	acfb9351b2
10:102546735 PAX2 G>T	10	102546735	102546735	G	T	PAX2	c.616+5613G>T	NM_000278.5	NP_000269.3:p.?	NC_000010.10:g.102546735G>T	VUS	1 lab	acfc1c1179
2:197182030 HECW2 C>T	2	197182030	197182030	C	T	HECW2	c.2402G>A	NM_001348768.2	NP_001335697.1:p.(Arg801Gln)	NC_000002.11:g.197182030C>T	(Likely) benign	1 lab	acfee35be9
7:96653697 DLX5 A>G	7	96653697	96653697	A	G	DLX5	c.239T>C	NM_005221.6	NP_005212.1:p.(Val80Ala)	NC_000007.13:g.96653697A>G	VUS	1 lab	acff565432
8:144998023 PLEC C>T	8	144998023	144998023	C	T	PLEC	c.6074G>A	NM_201384.3	NP_958786.1:p.(Arg2025Gln)	NC_000008.10:g.144998023C>T	VUS	1 lab	ad02218d12
13:32893457 BRCA2 A>G	13	32893457	32893457	A	G	BRCA2	c.311A>G	NM_000059.4	NP_000050.3:p.(Asp104Gly)	NC_000013.10:g.32893457A>G	VUS	1 lab	ad038ca8db
12:88500489 CEP290 T>C	12	88500489	88500489	T	C	CEP290	c.2780A>G	NM_025114.4	NP_079390.3:p.(Glu927Gly)	NC_000012.11:g.88500489T>C	(Likely) benign	1 lab	ad046290af
12:57965844 KIF5A C>T	12	57965844	57965844	C	T	KIF5A	c.1363C>T	NM_004984.4	NP_004975.2:p.(Leu455=)	NC_000012.11:g.57965844C>T	VUS	1 lab	ad05047822
1:44169743 KDM4A C>T	1	44169743	44169743	C	T	KDM4A	c.3014C>T	NM_014663.3	NP_055478.2:p.(Thr1005Ile)	NC_000001.10:g.44169743C>T	VUS	1 lab	ad061b653a
17:65908016 BPTF G>A	17	65908016	65908016	G	A	BPTF	c.4016G>A	NM_182641.4	NP_872579.2:p.(Gly1339Asp)	NC_000017.10:g.65908016G>A	VUS	1 lab	ad06e476a2
3:160073878 IFT80 A>C	3	160073878	160073878	A	C	IFT80	c.700T>G	NM_020800.3	NP_065851.1:p.(Ser234Ala)	NC_000003.11:g.160073878A>C	VUS	1 lab	ad07903df9
16:4431315 CORO7 C>T	16	4431315	4431315	C	T	CORO7	c.785+6672G>A	NM_024535.5	NP_078811.3:p.?	NC_000016.9:g.4431315C>T	(Likely) benign	1 lab	ad07db61aa
15:101514010 LRRK1 T>G	15	101514010	101514010	T	G	LRRK1	c.99T>G	NM_024652.6	NP_078928.3:p.(Gly33=)	NC_000015.9:g.101514010T>G	VUS	1 lab	ad084d21a2
18:60985700 BCL2 G>A	18	60985700	60985700	G	A	BCL2	c.200C>T	NM_000633.3	NP_000624.2:p.(Ala67Val)	NC_000018.9:g.60985700G>A	(Likely) benign	1 lab	ad085d93ca
9:98735233 ERCC6L2 A>G	9	98735233	98735233	A	G	ERCC6L2	c.3200A>G	NM_020207.7	NP_064592.3:p.(Asp1067Gly)	NC_000009.11:g.98735233A>G	VUS	1 lab	ad0869604c
16:1511407 CLCN7 G>A	16	1511407	1511407	G	A	CLCN7	c.350C>T	NM_001287.6	NP_001278.1:p.(Thr117Met)	NC_000016.9:g.1511407G>A	(Likely) benign	1 lab	ad08c8683d
13:25671271 PABPC3 A>G	13	25671271	25671271	A	G	PABPC3	c.935A>G	NM_030979.3	NP_112241.2:p.(Lys312Arg)	NC_000013.10:g.25671271A>G	(Likely) benign	1 lab	ad0903bc8c
16:89350761 ANKRD11 C>T	16	89350761	89350761	C	T	ANKRD11	c.2189G>A	NM_013275.6	NP_037407.4:p.(Arg730Lys)	NC_000016.9:g.89350761C>T	VUS	1 lab	ad094c4f87
11:119169128 CBL A>T	11	119169128	119169128	A	T	CBL	c.2312A>T	NM_005188.4	NP_005179.2:p.(Asp771Val)	NC_000011.9:g.119169128A>T	(Likely) benign	1 lab	ad09fe8db1
13:100637822 ZIC2 TGGCGGGGGCGGCGGCGGGGCGGGC>T	13	100637822	100637861	TGGCGGGGGCGGCGGCGGGGCGGGC	T	ZIC2	c.1501_1524del	NM_007129.5	NP_009060.2:p.(Gly501_Gly508del)	NC_000013.10:g.100637838_100637861del	VUS	1 lab	ad0b0d763c
15:90645592 IDH2 G>A	15	90645592	90645592	G	A	IDH2	c.31C>T	NM_002168.4	NP_002159.2:p.(Leu11Phe)	NC_000015.9:g.90645592G>A	VUS	1 lab	ad0b79eaa0
11:10800335 CTR9 G>A	11	10800335	10800335	G	A	CTR9	c.3205G>A	NM_014633.5	NP_055448.1:p.(Glu1069Lys)	NC_000011.9:g.10800335G>A	VUS	1 lab	ad0c20d0dc
2:179592894 TTN AT>A	2	179592894	179592895	AT	A	TTN	c.19656del	NM_001267550.2	NP_001254479.2:p.(Cys6553AlafsTer6)	NC_000002.11:g.179592895del	VUS	1 lab	ad0c2ab174
3:170136967 CLDN11 T>G	3	170136967	170136967	T	G	CLDN11	c.113T>G	NM_005602.6	NP_005593.2:p.(Ile38Ser)	NC_000003.11:g.170136967T>G	VUS	1 lab	ad0c50ced1
6:110098253 FIG4 A>G	6	110098253	110098253	A	G	FIG4	c.1879A>G	NM_014845.6	NP_055660.1:p.(Thr627Ala)	NC_000006.11:g.110098253A>G	VUS	1 lab	ad0e2385eb
18:59768352 PIGN T>G	18	59768352	59768352	T	G	PIGN	c.2033A>C	NM_176787.5	NP_789744.1:p.(Gln678Pro)	NC_000018.9:g.59768352T>G	(Likely) benign	1 lab	ad0e707e37
7:7398383 COL28A1 G>A	7	7398383	7398383	G	A	COL28A1	c.3259C>T	NM_001037763.3	NP_001032852.2:p.(Arg1087Ter)	NC_000007.13:g.7398383G>A	VUS	1 lab	ad13476b47
5:127664398 FBN2 T>A	5	127664398	127664398	T	A	FBN2	c.4461A>T	NM_001999.4	NP_001990.2:p.(Arg1487Ser)	NC_000005.9:g.127664398T>A	VUS	1 lab	ad14030eab
4:159601619 ETFDH CA>C	4	159601619	159601620	CA	C	ETFDH	c.36del	NM_004453.4	NP_004444.2:p.(Tyr13IlefsTer7)	NC_000004.11:g.159601620del	(Likely) pathogenic	1 lab	ad14189b02
1:84647352 PRKACB C>G	1	84647352	84647352	C	G	PRKACB	c.250-531C>G	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647352C>G	(Likely) benign	1 lab	ad16a735ce
1:44085844 PTPRF C>A	1	44085844	44085844	C	A	PTPRF	c.5190C>A	NM_002840.5	NP_002831.2:p.(His1730Gln)	NC_000001.10:g.44085844C>A	VUS	1 lab	ad1728a02b
1:152284256 FLG G>C	1	152284256	152284256	G	C	FLG	c.3106C>G	NM_002016.2	NP_002007.1:p.(Arg1036Gly)	NC_000001.10:g.152284256G>C	(Likely) benign	1 lab	ad1732519c
4:15780218 CD38 G>T	4	15780218	15780218	G	T	CD38	c.181G>T	NM_001775.4	NP_001766.2:p.(Glu61Ter)	NC_000004.11:g.15780218G>T	VUS	1 lab	ad6ae4e258
17:40370285 STAT5B A>G	17	40370285	40370285	A	G	STAT5B	c.1053T>C	NM_012448.4	NP_036580.2:p.(Thr351=)	NC_000017.10:g.40370285A>G	(Likely) benign	1 lab	ad182e7661
13:100992463 PCCA A>G	13	100992463	100992463	A	G	PCCA	c.1593A>G	NM_000282.4	NP_000273.2:p.(Ser531=)	NC_000013.10:g.100992463A>G	(Likely) benign	1 lab	2a2e27cfdf
5:127624905 FBN2 T>A	5	127624905	127624905	T	A	FBN2	c.6551A>T	NM_001999.4	NP_001990.2:p.(Asn2184Ile)	NC_000005.9:g.127624905T>A	(Likely) benign	1 lab	ad1c118810
15:25616152 UBE3A T>C	15	25616152	25616152	T	C	UBE3A	c.1169A>G	NM_130839.5	NP_570854.1:p.(Asn390Ser)	NC_000015.9:g.25616152T>C	VUS	1 lab	ad1d334ccd
11:68193454 LRP5 C>T	11	68193454	68193454	C	T	LRP5	c.3436C>T	NM_002335.4	NP_002326.2:p.(Arg1146Cys)	NC_000011.9:g.68193454C>T	VUS	1 lab	ad1eb91796
18:19751052 GATA6 C>A	18	19751052	19751052	C	A	GATA6	c.-37-17C>A	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19751052C>A	(Likely) benign	1 lab	ad1fac2874
8:145002043 PLEC C>T	8	145002043	145002043	C	T	PLEC	c.3378G>A	NM_201384.3	NP_958786.1:p.(Glu1126=)	NC_000008.10:g.145002043C>T	(Likely) benign	1 lab	ad21224c88
16:51174876 SALL1 C>A	16	51174876	51174876	C	A	SALL1	c.1257G>T	NM_002968.3	NP_002959.2:p.(Leu419Phe)	NC_000016.9:g.51174876C>A	VUS	1 lab	ad214158aa
7:40027748 CDK13 A>G	7	40027748	40027748	A	G	CDK13	c.1762A>G	NM_003718.5	NP_003709.3:p.(Thr588Ala)	NC_000007.13:g.40027748A>G	VUS	1 lab	287acac36f
2:233414151 TIGD1 T>C	2	233414151	233414151	T	C	TIGD1	c.442A>G	NM_145702.4	NP_663748.1:p.(Ile148Val)	NC_000002.11:g.233414151T>C	(Likely) benign	1 lab	ad22af71ff
X:11157154 ARHGAP6 C>A	X	11157154	11157154	C	A	ARHGAP6	c.2754G>T	NM_013427.3	NP_038286.2:p.(Glu918Asp)	NC_000023.10:g.11157154C>A	(Likely) benign	1 lab	ad250931d4
2:228176548 COL4A3 A>G	2	228176548	228176548	A	G	COL4A3	c.4975A>G	NM_000091.5	NP_000082.2:p.(Ile1659Val)	NC_000002.11:g.228176548A>G	(Likely) benign	1 lab	ad2576eeed
4:103806493 CISD2 T>C	4	103806493	103806493	T	C	CISD2	c.224T>C	NM_001008388.5	NP_001008389.1:p.(Ile75Thr)	NC_000004.11:g.103806493T>C	VUS	1 lab	ad26b8738d
11:85975305 EED T>C	11	85975305	85975305	T	C	EED	c.726T>C	NM_003797.5	NP_003788.2:p.(Ala242=)	NC_000011.9:g.85975305T>C	(Likely) benign	1 lab	ad28c736a4
4:170520291 NEK1 C>T	4	170520291	170520291	C	T	NEK1	c.272G>A	NM_001199397.3	NP_001186326.1:p.(Arg91Gln)	NC_000004.11:g.170520291C>T	VUS	1 lab	ad2b344fe0
2:99136511 INPP4A C>G	2	99136511	99136511	C	G	INPP4A	c.-1C>G	NM_001134225.2	NP_001127697.1:p.?	NC_000002.11:g.99136511C>G	VUS	1 lab	ad2bb864ac
19:44352527 ZNF283 G>C	19	44352527	44352527	G	C	ZNF283	c.1774G>C	NM_181845.2	NP_862828.1:p.(Val592Leu)	NC_000019.9:g.44352527G>C	(Likely) benign	1 lab	ad2bdc58da
2:132021757 POTEE G>A	2	132021757	132021757	G	A	POTEE	c.2729G>A	NM_001083538.3	NP_001077007.1:p.(Arg910His)	NC_000002.11:g.132021757G>A	VUS	1 lab	ad2c44f898
13:23894757 SGCG C>CTTTTTTT	13	23894757	23894760	C	CTTTTTTT	SGCG	c.579-17_579-16insTTTTTTT	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894759_23894760insTTTTTTT	(Likely) benign	1 lab	ad2c870e91
14:94121990 UNC79 GAA>G	14	94121990	94122007	GAA	G	UNC79	c.6789+253_6789+254del	NM_001395159.1	NP_001382088.1:p.?	NC_000014.8:g.94122006_94122007del	(Likely) benign	1 lab	ad2d0e2674
3:112727199 RMP64 G>A	3	112727199	112727199	G	A	RMP64	c.1054C>T	NM_015412.4	NP_056227.2:p.(Pro352Ser)	NC_000003.11:g.112727199G>A	(Likely) benign	1 lab	ad2da1cc19
12:6927665 CD4 T>C	12	6927665	6927665	T	C	CD4	c.1235T>C	NM_000616.5	NP_000607.1:p.(Ile412Thr)	NC_000012.11:g.6927665T>C	(Likely) benign	1 lab	2a3181a265
11:65408598 SIPA1 G>A	11	65408598	65408598	G	A	SIPA1	c.206G>A	NM_006747.4	NP_006738.3:p.(Arg69His)	NC_000011.9:g.65408598G>A	(Likely) benign	1 lab	ad31336b4d
8:38287290 FGFR1 C>A	8	38287290	38287290	C	A	FGFR1	c.268G>T	NM_023110.3	NP_075598.2:p.(Asp90Tyr)	NC_000008.10:g.38287290C>A	(Likely) benign	1 lab	ad32ba26df
12:56142553 GDF11 G>T	12	56142553	56142553	G	T	GDF11	c.629G>T	NM_005811.5	NP_005802.1:p.(Gly210Val)	NC_000012.11:g.56142553G>T	(Likely) benign	1 lab	ad332e2c17
9:140991018 CACNA1B T>A	9	140991018	140991018	T	A	CACNA1B	c.5177T>A	NM_000718.4	NP_000709.1:p.(Leu1726Ter)	NC_000009.11:g.140991018T>A	(Likely) pathogenic	1 lab	ad343083c5
2:48026733 MSH6 G>GT	2	48026733	48026734	G	GT	MSH6	c.1612dup	NM_000179.3	NP_000170.1:p.(Tyr538LeufsTer4)	NC_000002.11:g.48026734dup	(Likely) pathogenic	1 lab	ad36f5abab
3:168861536 MECOM C>A	3	168861536	168861536	C	A	MECOM	c.460G>T	NM_004991.4	NP_004982.2:p.(Ala154Ser)	NC_000003.11:g.168861536C>A	(Likely) benign	1 lab	ad382d4bf7
15:44198149 FRMD5 G>A	15	44198149	44198149	G	A	FRMD5	c.428C>T	NM_032892.5	NP_116281.2:p.(Ala143Val)	NC_000015.9:g.44198149G>A	VUS	1 lab	ad39a32ecd
2:33447197 LTBP1 G>A	2	33447197	33447197	G	A	LTBP1	c.1855G>A	NM_206943.4	NP_996826.3:p.(Val619Ile)	NC_000002.11:g.33447197G>A	VUS	1 lab	ad39e7f450
2:179425453 TTN G>C	2	179425453	179425453	G	C	TTN	c.58586C>G	NM_133432.3	NP_597676.3:p.(Ser19529Cys)	NC_000002.11:g.179425453G>C	(Likely) benign	1 lab	2a31840773
12:124221795 ATP6V0A2 C>T	12	124221795	124221795	C	T	ATP6V0A2	c.1015C>T	NM_012463.4	NP_036595.2:p.(Arg339Cys)	NC_000012.11:g.124221795C>T	VUS	1 lab	ad3b54a919
16:15839063 MYH11 C>A	16	15839063	15839063	C	A	MYH11	c.2443G>T	NM_002474.3	NP_002465.1:p.(Ala815Ser)	NC_000016.9:g.15839063C>A	VUS	1 lab	ad3c1f9274
16:88500104 ZNF469 C>T	16	88500104	88500104	C	T	ZNF469	c.6226C>T	NM_001367624.2	NP_001354553.1:p.(Arg2076Ter)	NC_000016.9:g.88500104C>T	VUS	1 lab	ad3c9cad08
4:1343512 UVSSA C>T	4	1343512	1343512	C	T	UVSSA	c.299C>T	NM_020894.4	NP_065945.2:p.(Pro100Leu)	NC_000004.11:g.1343512C>T	VUS	1 lab	ad3f7c609e
11:4112808 STIM1 C>A	11	4112808	4112808	C	A	STIM1	c.1931C>A	NM_001382567.1	NP_001369496.1:p.(Ser644Tyr)	NC_000011.9:g.4112808C>A	(Likely) benign	1 lab	ad40892666
14:92471220 TRIP11 G>A	14	92471220	92471220	G	A	TRIP11	c.3100C>T	NM_004239.4	NP_004230.2:p.(Leu1034Phe)	NC_000014.8:g.92471220G>A	(Likely) benign	1 lab	ad40d3f9b1
19:38945950 RYR1 G>A	19	38945950	38945950	G	A	RYR1	c.1516G>A	NM_000540.3	NP_000531.2:p.(Ala506Thr)	NC_000019.9:g.38945950G>A	VUS	1 lab	ad430672e4
15:99491883 IGF1R G>A	15	99491883	99491883	G	A	IGF1R	c.3668G>A	NM_000875.5	NP_000866.1:p.(Arg1223His)	NC_000015.9:g.99491883G>A	VUS	1 lab	ad447a19ac
20:13765738 NDUFAF5 G>A	20	13765738	13765738	G	A	NDUFAF5	c.24G>A	NM_024120.5	NP_077025.2:p.(Trp8Ter)	NC_000020.10:g.13765738G>A	(Likely) pathogenic	1 lab	ad4487d009
9:98211514 PTCH1 G>A	9	98211514	98211514	G	A	PTCH1	c.3641C>T	NM_000264.5	NP_000255.2:p.(Thr1214Met)	NC_000009.11:g.98211514G>A	(Likely) benign	1 lab	ad450f4a4e
16:16225727 ABCC1 C>T	16	16225727	16225727	C	T	ABCC1	c.3901C>T	NM_004996.4	NP_004987.2:p.(Arg1301Cys)	NC_000016.9:g.16225727C>T	VUS	1 lab	ad470935ae
X:47030469 RBM10 C>T	X	47030469	47030469	C	T	RBM10	c.244C>T	NM_005676.5	NP_005667.2:p.(Arg82Trp)	NC_000023.10:g.47030469C>T	(Likely) benign	1 lab	ad4a7506c0
3:9477527 SETD5 A>C	3	9477527	9477527	A	C	SETD5	c.504A>C	NM_001080517.3	NP_001073986.1:p.(Lys168Asn)	NC_000003.11:g.9477527A>C	(Likely) benign	1 lab	ad4ad87e72
17:73488550 TMEM94 C>A	17	73488550	73488550	C	A	TMEM94	c.1597-5C>A	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73488550C>A	(Likely) benign	1 lab	ad4b0e7c21
1:145281993 NOTCH2NLA A>G	1	145281993	145281993	A	G	NOTCH2NLA	c.673A>G	NM_203458.6	NP_982283.2:p.(Arg225Gly)	NC_000001.10:g.145281993A>G	VUS	1 lab	ad4b21d5a7
15:93563319 CHD2 C>T	15	93563319	93563319	C	T	CHD2	c.4984C>T	NM_001271.4	NP_001262.3:p.(His1662Tyr)	NC_000015.9:g.93563319C>T	(Likely) benign	1 lab	ad4c301146
3:184072357 CLCN2 G>A	3	184072357	184072357	G	A	CLCN2	c.1486C>T	NM_004366.6	NP_004357.3:p.(Pro496Ser)	NC_000003.11:g.184072357G>A	VUS	1 lab	ad4c44a937
3:133119337 BFSP2 G>A	3	133119337	133119337	G	A	BFSP2	c.410G>A	NM_003571.4	NP_003562.1:p.(Arg137Gln)	NC_000003.11:g.133119337G>A	VUS	1 lab	ad4c735e01
5:70898367 MCCC2 G>A	5	70898367	70898367	G	A	MCCC2	c.418G>A	NM_022132.5	NP_071415.1:p.(Val140Ile)	NC_000005.9:g.70898367G>A	VUS	1 lab	ad4ee901b0
10:27447555 MASTL C>G	10	27447555	27447555	C	G	MASTL	c.264C>G	NM_032844.5	NP_116233.2:p.(Ser88Arg)	NC_000010.10:g.27447555C>G	VUS	1 lab	287aef9c52
7:92735396 SAMD9 A>T	7	92735396	92735396	A	T	SAMD9	c.15T>A	NM_017654.4	NP_060124.2:p.(Leu5=)	NC_000007.13:g.92735396A>T	VUS	1 lab	ad4f2dfd32
8:144995112 PLEC G>T	8	144995112	144995112	G	T	PLEC	c.8877C>A	NM_201384.3	NP_958786.1:p.(Ile2959=)	NC_000008.10:g.144995112G>T	(Likely) benign	1 lab	ad50b637c9
2:33614382 LTBP1 A>G	2	33614382	33614382	A	G	LTBP1	c.4834+9A>G	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33614382A>G	VUS	1 lab	ad5206d24c
12:80707305 OTOGL G>A	12	80707305	80707305	G	A	OTOGL	c.3500G>A	NM_001378609.3	NP_001365538.2:p.(Cys1167Tyr)	NC_000012.11:g.80707305G>A	VUS	1 lab	ad52bb1117
21:47419051 COL6A1 C>T	21	47419051	47419051	C	T	COL6A1	c.1675-16C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47419051C>T	(Likely) benign	1 lab	ad52fa47b6
1:202711899 KDM5B AGAT>A	1	202711899	202711902	AGAT	A	KDM5B	c.2355_2357del	NM_006618.5	NP_006609.3:p.(Glu785_Ser786delinsAsp)	NC_000001.10:g.202711900_202711902del	VUS	1 lab	ad5388c296
10:112581691 RBM20 C>T	10	112581691	112581691	C	T	RBM20	c.3314C>T	NM_001134363.3	NP_001127835.2:p.(Pro1105Leu)	NC_000010.10:g.112581691C>T	(Likely) benign	1 lab	287d6c1f90
11:108114681 ATM A>ATTTTT	11	108114681	108114684	A	ATTTTT	ATM	c.500_501insTTTTT	NM_000051.4	NP_000042.3:p.(Leu167PhefsTer12)	NC_000011.9:g.108114683_108114684insTTTTT	(Likely) pathogenic	1 lab	ad54e7082f
12:106890543 POLR3B T>G	12	106890543	106890543	T	G	POLR3B	c.2831T>G	NM_018082.6	NP_060552.4:p.(Ile944Ser)	NC_000012.11:g.106890543T>G	VUS	1 lab	ad55008e4d
2:15674757 NBAS G>C	2	15674757	15674757	G	C	NBAS	c.656C>G	NM_015909.4	NP_056993.2:p.(Thr219Arg)	NC_000002.11:g.15674757G>C	VUS	1 lab	ade0cc4125
6:33289246 DAXX C>T	6	33289246	33289246	C	T	DAXX	c.306G>A	NM_001141969.2	NP_001135441.1:p.(Ser102=)	NC_000006.11:g.33289246C>T	(Likely) benign	1 lab	ad555faa95
18:24035756 KCTD1 G>A	18	24035756	24035756	G	A	KCTD1	c.2549C>T	NM_001142730.3	NP_001136202.1:p.(Thr850Met)	NC_000018.9:g.24035756G>A	(Likely) benign	1 lab	ad558084d8
3:53834369 CACNA1D G>A	3	53834369	53834369	G	A	CACNA1D	c.5017G>A	NM_001128840.3	NP_001122312.1:p.(Glu1673Lys)	NC_000003.11:g.53834369G>A	(Likely) benign	1 lab	ad55e0c2c8
6:87968125 ZNF292 G>C	6	87968125	87968125	G	C	ZNF292	c.4778G>C	NM_015021.3	NP_055836.1:p.(Gly1593Ala)	NC_000006.11:g.87968125G>C	(Likely) benign	1 lab	ad55f6604c
17:7574029 TP53 C>T	17	7574029	7574029	C	T	TP53	c.998G>A	NM_000546.6	NP_000537.3:p.(Arg333His)	NC_000017.10:g.7574029C>T	VUS	1 lab	ad5719d707
1:152278706 FLG G>A	1	152278706	152278706	G	A	FLG	c.8656C>T	NM_002016.2	NP_002007.1:p.(Arg2886Cys)	NC_000001.10:g.152278706G>A	(Likely) benign	1 lab	ad593ef63a
X:69672606 DLG3 G>A	X	69672606	69672606	G	A	DLG3	c.1145+730G>A	NM_021120.4	NP_066943.2:p.?	NC_000023.10:g.69672606G>A	VUS	1 lab	ad599876b8
2:179644848 TTN C>G	2	179644848	179644848	C	G	TTN	c.3608G>C	NM_001267550.2	NP_001254479.2:p.(Gly1203Ala)	NC_000002.11:g.179644848C>G	VUS	1 lab	ad59995920
X:50144082 DGKK C>A	X	50144082	50144082	C	A	DGKK	c.1364G>T	NM_001013742.4	NP_001013764.1:p.(Arg455Leu)	NC_000023.10:g.50144082C>A	(Likely) benign	1 lab	ad59b5466d
2:48033688 MSH6 T>TTAATGCAGCAAGGCTTGC	2	48033688	48033710	T	TTAATGCAGCAAGGCTTGC	MSH6	c.3904_3921dup	NM_000179.3	NP_000170.1:p.(Ala1302_Asn1307dup)	NC_000002.11:g.48033693_48033710dup	VUS	1 lab	ad59e16043
1:152283614 FLG A>G	1	152283614	152283614	A	G	FLG	c.3748T>C	NM_002016.2	NP_002007.1:p.(Ser1250Pro)	NC_000001.10:g.152283614A>G	VUS	1 lab	ad5aec5d1e
1:240072322 CHRM3 C>T	1	240072322	240072322	C	T	CHRM3	c.1571C>T	NM_001375978.1	NP_001362907.1:p.(Thr524Ile)	NC_000001.10:g.240072322C>T	(Likely) benign	1 lab	ad5b247743
2:141250190 LRP1B G>A	2	141250190	141250190	G	A	LRP1B	c.9107C>T	NM_018557.3	NP_061027.2:p.(Thr3036Ile)	NC_000002.11:g.141250190G>A	VUS	1 lab	ad5b75d584
4:1713655 SLBP C>T	4	1713655	1713655	C	T	SLBP	c.122G>A	NM_006527.4	NP_006518.1:p.(Arg41Lys)	NC_000004.11:g.1713655C>T	VUS	1 lab	ad5f0b730a
12:121426770 HNF1A T>G	12	121426770	121426770	T	G	HNF1A	c.461T>G	NM_000545.8	NP_000536.6:p.(Met154Arg)	NC_000012.11:g.121426770T>G	(Likely) pathogenic	1 lab	ad608cd54a
7:50169380 SPMIP7 C>G	7	50169380	50169380	C	G	SPMIP7	c.719C>G	NM_001161834.3	NP_001155306.3:p.(Ser240Cys)	NC_000007.13:g.50169380C>G	(Likely) benign	1 lab	ad65455ced
X:54784996 ITIH6 A>G	X	54784996	54784996	A	G	ITIH6	c.1511T>C	NM_198510.3	NP_940912.1:p.(Val504Ala)	NC_000023.10:g.54784996A>G	VUS	1 lab	ad6607ef35
21:47552029 COL6A2 G>A	21	47552029	47552029	G	A	COL6A2	c.2623G>A	NM_001849.4	NP_001840.3:p.(Ala875Thr)	NC_000021.8:g.47552029G>A	VUS	1 lab	ad66e09a9a
12:9013881 A2ML1 G>GCTAT	12	9013881	9013886	G	GCTAT	A2ML1	c.3492_3495dup	NM_144670.6	NP_653271.3:p.(Ile1166TyrfsTer24)	NC_000012.11:g.9013883_9013886dup	VUS	1 lab	2880ef8053
19:55880246 IL11 G>A	19	55880246	55880246	G	A	IL11	c.71C>T	NM_000641.4	NP_000632.1:p.(Pro24Leu)	NC_000019.9:g.55880246G>A	(Likely) benign	1 lab	ad6799c43c
14:64716326 ESR2 C>T	14	64716326	64716326	C	T	ESR2	c.1163G>A	NM_001437.3	NP_001428.1:p.(Arg388Gln)	NC_000014.8:g.64716326C>T	VUS	1 lab	ad6a688bff
8:10466783 RP1L1 G>A	8	10466783	10466783	G	A	RP1L1	c.4825C>T	NM_178857.6	NP_849188.4:p.(Arg1609Cys)	NC_000008.10:g.10466783G>A	VUS	1 lab	ad6ac6e021
3:183885796 DVL3 G>A	3	183885796	183885796	G	A	DVL3	c.1441G>A	NM_004423.4	NP_004414.3:p.(Val481Ile)	NC_000003.11:g.183885796G>A	VUS	1 lab	ad6aeb6fd0
6:152542062 SYNE1 T>C	6	152542062	152542062	T	C	SYNE1	c.21776A>G	NM_182961.4	NP_892006.3:p.(Glu7259Gly)	NC_000006.11:g.152542062T>C	VUS	1 lab	ad6c079e39
5:147498055 SPINK5 G>A	5	147498055	147498055	G	A	SPINK5	c.2168G>A	NM_006846.4	NP_006837.2:p.(Arg723Gln)	NC_000005.9:g.147498055G>A	(Likely) benign	1 lab	ad6d424aac
14:102514979 DYNC1H1 C>T	14	102514979	102514979	C	T	DYNC1H1	c.13345C>T	NM_001376.5	NP_001367.2:p.(Arg4449Cys)	NC_000014.8:g.102514979C>T	VUS	1 lab	ad6ddfe43a
19:11311438 DOCK6 G>A	19	11311438	11311438	G	A	DOCK6	c.5893C>T	NM_020812.4	NP_065863.2:p.(Arg1965Trp)	NC_000019.9:g.11311438G>A	VUS	1 lab	ad708fc787
10:95848842 PLCE1 G>A	10	95848842	95848842	G	A	PLCE1	c.1207-43089G>A	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.95848842G>A	(Likely) benign	1 lab	ad725bf63d
12:124242473 ATP6V0A2 G>T	12	124242473	124242473	G	T	ATP6V0A2	c.2466-1G>T	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124242473G>T	(Likely) benign	1 lab	ad73921583
10:16877024 CUBN C>T	10	16877024	16877024	C	T	CUBN	c.10351G>A	NM_001081.4	NP_001072.2:p.(Asp3451Asn)	NC_000010.10:g.16877024C>T	VUS	1 lab	ad76219118
16:89250072 CDH15 T>TGGCC	16	89250072	89250077	T	TGGCC	CDH15	c.476_479dup	NM_004933.3	NP_004924.1:p.(Val161ProfsTer92)	NC_000016.9:g.89250074_89250077dup	VUS	1 lab	ad776b8aab
X:6451839 VCX3A C>G	X	6451839	6451839	C	G	VCX3A	c.508G>C	NM_016379.4	NP_057463.2:p.(Val170Leu)	NC_000023.10:g.6451839C>G	(Likely) benign	1 lab	ad78b29151
9:140846706 CACNA1B C>T	9	140846706	140846706	C	T	CACNA1B	c.967-20C>T	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140846706C>T	(Likely) benign	1 lab	2880f27485
10:90697867 ACTA2 C>T	10	90697867	90697867	C	T	ACTA2	c.941G>A	NM_001613.4	NP_001604.1:p.(Arg314Gln)	NC_000010.10:g.90697867C>T	VUS	1 lab	ad7e63ee1f
19:2253774 JSRP1 G>A	19	2253774	2253774	G	A	JSRP1	c.281C>T	NM_144616.4	NP_653217.1:p.(Ala94Val)	NC_000019.9:g.2253774G>A	VUS	1 lab	ad802e3d1a
6:31661127 ABHD16A G>A	6	31661127	31661127	G	A	ABHD16A	c.503+9C>T	NM_021160.3	NP_066983.1:p.?	NC_000006.11:g.31661127G>A	(Likely) benign	1 lab	ad80a84cce
17:43522941 PLEKHM1 T>A	17	43522941	43522941	T	A	PLEKHM1	c.2732A>T	NM_014798.3	NP_055613.1:p.(His911Leu)	NC_000017.10:g.43522941T>A	VUS	1 lab	ad80e25bb4
19:46857065 PPP5C A>T	19	46857065	46857065	A	T	PPP5C	c.182A>T	NM_006247.4	NP_006238.1:p.(Asn61Ile)	NC_000019.9:g.46857065A>T	(Likely) benign	1 lab	ad80ee89b2
1:235891400 LYST A>C	1	235891400	235891400	A	C	LYST	c.9138T>G	NM_000081.4	NP_000072.2:p.(Asn3046Lys)	NC_000001.10:g.235891400A>C	VUS	1 lab	ad81cb7a8c
4:104512811 TACR3 C>T	4	104512811	104512811	C	T	TACR3	c.918G>A	NM_001059.3	NP_001050.1:p.(Met306Ile)	NC_000004.11:g.104512811C>T	(Likely) benign	1 lab	ad82652744
19:287698 PLPP2 C>T	19	287698	287698	C	T	PLPP2	c.258G>A	NM_003712.4	NP_003703.1:p.(Ser86=)	NC_000019.9:g.287698C>T	VUS	1 lab	ad85581b2a
3:38988389 SCN11A C>T	3	38988389	38988389	C	T	SCN11A	c.277G>A	NM_001349253.2	NP_001336182.1:p.(Val93Met)	NC_000003.11:g.38988389C>T	VUS	1 lab	ad88a8445a
12:58020582 B4GALNT1 G>A	12	58020582	58020582	G	A	B4GALNT1	c.1547C>T	NM_001478.5	NP_001469.1:p.(Ala516Val)	NC_000012.11:g.58020582G>A	(Likely) benign	1 lab	ad88ca604d
2:29006846 PPP1CB T>G	2	29006846	29006846	T	G	PPP1CB	c.592+2T>G	NM_002709.3	NP_002700.1:p.?	NC_000002.11:g.29006846T>G	VUS	1 lab	ad89771f20
12:53343092 KRT18 G>T	12	53343092	53343092	G	T	KRT18	c.135G>T	NM_000224.3	NP_000215.1:p.(Arg45=)	NC_000012.11:g.53343092G>T	(Likely) benign	1 lab	2882c14b64
2:170343639 BBS5 A>G	2	170343639	170343639	A	G	BBS5	c.203A>G	NM_152384.3	NP_689597.1:p.(Asn68Ser)	NC_000002.11:g.170343639A>G	VUS	1 lab	ad8c1130cd
19:42858876 MEGF8 C>G	19	42858876	42858876	C	G	MEGF8	c.4144+4C>G	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42858876C>G	(Likely) benign	1 lab	ad8c889ae1
1:26136244 SELENON G>A	1	26136244	26136244	G	A	SELENON	c.841G>A	NM_206926.2	NP_996809.1:p.(Gly281Ser)	NC_000001.10:g.26136244G>A	(Likely) pathogenic	1 lab	ad8dfcf3c7
1:228433171 OBSCN C>T	1	228433171	228433171	C	T	OBSCN	c.3815C>T	NM_001386125.1	NP_001373054.1:p.(Ala1272Val)	NC_000001.10:g.228433171C>T	(Likely) benign	1 lab	ad8e0504df
7:103301870 RELN G>A	7	103301870	103301870	G	A	RELN	c.1394C>T	NM_005045.4	NP_005036.2:p.(Ser465Phe)	NC_000007.13:g.103301870G>A	VUS	1 lab	ad8e4c5f9e
1:17270750 CROCC C>T	1	17270750	17270750	C	T	CROCC	c.1964C>T	NM_014675.5	NP_055490.4:p.(Ala655Val)	NC_000001.10:g.17270750C>T	(Likely) benign	1 lab	ad8e8d9662
10:27337896 ANKRD26 TTTC>T	10	27337896	27337905	TTTC	T	ANKRD26	c.1645_1647del	NM_014915.3	NP_055730.2:p.(Glu549del)	NC_000010.10:g.27337903_27337905del	(Likely) benign	1 lab	ad8eafb21b
2:25497801 DNMT3A G>T	2	25497801	25497801	G	T	DNMT3A	c.639+9C>A	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25497801G>T	VUS	1 lab	ad8ebd9c79
11:47373035 MYBPC3 G>A	11	47373035	47373035	G	A	MYBPC3	c.47C>T	NM_000256.3	NP_000247.2:p.(Pro16Leu)	NC_000011.9:g.47373035G>A	VUS	1 lab	2a330a7a38
11:19955519 NAV2 C>T	11	19955519	19955519	C	T	NAV2	c.1729C>T	NM_145117.5	NP_660093.2:p.(Pro577Ser)	NC_000011.9:g.19955519C>T	VUS	1 lab	ad91cd9cde
X:13764945 OFD1 C>CA	X	13764945	13764954	C	CA	OFD1	c.710dup	NM_003611.3	NP_003602.1:p.(Tyr238ValfsTer2)	NC_000023.10:g.13764954dup	(Likely) pathogenic	1 lab	ad92170656
9:139964863 SAPCD2 G>A	9	139964863	139964863	G	A	SAPCD2	c.50C>T	NM_178448.4	NP_848543.2:p.(Pro17Leu)	NC_000009.11:g.139964863G>A	VUS	1 lab	ad924b4235
X:86773114 KLHL4 TACTGGC>T	X	86773114	86773122	TACTGGC	T	KLHL4	c.221_226del	NM_019117.5	NP_061990.2:p.(Leu74_Ala75del)	NC_000023.10:g.86773117_86773122del	VUS	1 lab	ad928c76b0
19:44278448 KCNN4 C>T	19	44278448	44278448	C	T	KCNN4	c.579G>A	NM_002250.3	NP_002241.1:p.(Trp193Ter)	NC_000019.9:g.44278448C>T	VUS	1 lab	ad94946892
2:73682373 ALMS1 A>G	2	73682373	73682373	A	G	ALMS1	c.7625A>G	NM_001378454.1	NP_001365383.1:p.(Glu2542Gly)	NC_000002.11:g.73682373A>G	VUS	1 lab	ad956e79c7
5:176719114 NSD1 A>G	5	176719114	176719114	A	G	NSD1	c.6418A>G	NM_022455.5	NP_071900.2:p.(Lys2140Glu)	NC_000005.9:g.176719114A>G	(Likely) pathogenic	1 lab	ad95dfed74
3:12422997 PPARG A>T	3	12422997	12422997	A	T	PPARG	c.390+7A>T	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12422997A>T	(Likely) benign	1 lab	ad9616da31
15:33822833 RYR3 A>G	15	33822833	33822833	A	G	RYR3	c.320A>G	NM_001036.6	NP_001027.3:p.(His107Arg)	NC_000015.9:g.33822833A>G	VUS	1 lab	ad961a3643
9:100823121 NANS C>T	9	100823121	100823121	C	T	NANS	c.190C>T	NM_018946.4	NP_061819.2:p.(Arg64Trp)	NC_000009.11:g.100823121C>T	VUS	1 lab	ad991524cb
3:52786032 NEK4 C>T	3	52786032	52786032	C	T	NEK4	c.1284G>A	NM_003157.6	NP_003148.2:p.(Trp428Ter)	NC_000003.11:g.52786032C>T	VUS	1 lab	ad9b53ee7b
1:36359295 AGO1 CCTT>C	1	36359295	36359303	CCTT	C	AGO1	c.539_541del	NM_012199.5	NP_036331.1:p.(Phe180del)	NC_000001.10:g.36359301_36359303del	(Likely) pathogenic	1 lab	ad9bb6b0c2
1:23409678 KDM1A C>T	1	23409678	23409678	C	T	KDM1A	c.2452C>T	NM_001009999.3	NP_001009999.1:p.(Pro818Ser)	NC_000001.10:g.23409678C>T	VUS	1 lab	ad9bdf4e08
12:7361746 PEX5 G>A	12	7361746	7361746	G	A	PEX5	c.1540G>A	NM_001351132.2	NP_001338061.1:p.(Ala514Thr)	NC_000012.11:g.7361746G>A	VUS	1 lab	ad9df9d237
16:2157873 PKD1 G>A	16	2157873	2157873	G	A	PKD1	c.7065+11C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2157873G>A	(Likely) benign	1 lab	ad9e1881df
14:100705722 YY1 GGACGAC>G	14	100705722	100705736	GGACGAC	G	YY1	c.150_155del	NM_003403.5	NP_003394.1:p.(Asp50_Asp51del)	NC_000014.8:g.100705731_100705736del	(Likely) benign	1 lab	ad9fc2d642
1:225238081 DNAH14 A>G	1	225238081	225238081	A	G	DNAH14	c.2079+3A>G	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225238081A>G	VUS	1 lab	ad9fdbac53
7:129948140 CPA4 T>A	7	129948140	129948140	T	A	CPA4	c.703-7T>A	NM_016352.4	NP_057436.2:p.?	NC_000007.13:g.129948140T>A	(Likely) benign	1 lab	ada17c68b6
16:15818530 MYH11 G>A	16	15818530	15818530	G	A	MYH11	c.4090C>T	NM_002474.3	NP_002465.1:p.(Arg1364Cys)	NC_000016.9:g.15818530G>A	VUS	1 lab	ada38b3ea8
1:26648661 CRYBG2 C>T	1	26648661	26648661	C	T	CRYBG2	c.4891G>A	NM_001039775.4	NP_001034864.2:p.(Val1631Met)	NC_000001.10:g.26648661C>T	VUS	1 lab	ada48dab16
4:110763724 RRH C>T	4	110763724	110763724	C	T	RRH	c.820C>T	NM_006583.5	NP_006574.1:p.(Pro274Ser)	NC_000004.11:g.110763724C>T	(Likely) benign	1 lab	ada4b40791
7:142650991 KEL G>A	7	142650991	142650991	G	A	KEL	c.977C>T	NM_000420.3	NP_000411.1:p.(Pro326Leu)	NC_000007.13:g.142650991G>A	VUS	1 lab	ada50d994a
19:7703998 STXBP2 C>T	19	7703998	7703998	C	T	STXBP2	c.169+12C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7703998C>T	(Likely) benign	1 lab	2a38b914a6
X:2825349 ARSD A>G	X	2825349	2825349	A	G	ARSD	c.1745T>C	NM_001669.4	NP_001660.2:p.(Phe582Ser)	NC_000023.10:g.2825349A>G	(Likely) benign	1 lab	ada6300b45
15:80869315 ARNT2 C>G	15	80869315	80869315	C	G	ARNT2	c.1613+9C>G	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80869315C>G	(Likely) benign	1 lab	ada723ab81
16:69356530 VPS4A G>C	16	69356530	69356530	G	C	VPS4A	c.1139G>C	NM_013245.3	NP_037377.1:p.(Gly380Ala)	NC_000016.9:g.69356530G>C	VUS	1 lab	ada8d7351d
17:49233016 NME1 A>G	17	49233016	49233016	A	G	NME1	c.1A>G	NM_000269.3	NP_000260.1:p.(Met1?)	NC_000017.10:g.49233016A>G	(Likely) benign	1 lab	adaa7339af
1:22198673 HSPG2 G>A	1	22198673	22198673	G	A	HSPG2	c.4221+6C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22198673G>A	(Likely) benign	1 lab	adaa9ab87c
1:17345382 SDHB T>C	1	17345382	17345382	T	C	SDHB	c.837A>G	NM_003000.3	NP_002991.2:p.(Ser279=)	NC_000001.10:g.17345382T>C	VUS	1 lab	adaae3478e
1:39945547 MACF1 C>T	1	39945547	39945547	C	T	MACF1	c.22036C>T	NM_001394062.1	NP_001380991.1:p.(Arg7346Cys)	NC_000001.10:g.39945547C>T	VUS	1 lab	adab8ccaaa
5:140229664 PCDHA1 G>A	5	140229664	140229664	G	A	PCDHA1	c.2394+61395G>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140229664G>A	VUS	1 lab	adab97dbae
11:71948779 INPPL1 G>A	11	71948779	71948779	G	A	INPPL1	c.3491G>A	NM_001567.4	NP_001558.3:p.(Arg1164Gln)	NC_000011.9:g.71948779G>A	(Likely) benign	1 lab	adac1d3ca0
6:76558228 MYO6 A>T	6	76558228	76558228	A	T	MYO6	c.1058A>T	NM_004999.4	NP_004990.3:p.(Glu353Val)	NC_000006.11:g.76558228A>T	(Likely) benign	1 lab	adac300a5f
8:144902609 PUF60 T>G	8	144902609	144902609	T	G	PUF60	c.348+227A>C	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144902609T>G	(Likely) benign	1 lab	adad01e000
16:89620938 SPG7 G>C	16	89620938	89620938	G	C	SPG7	c.2148G>C	NM_003119.4	NP_003110.1:p.(Lys716Asn)	NC_000016.9:g.89620938G>C	VUS	1 lab	adad628663
12:66346128 HMGA2 T>C	12	66346128	66346128	T	C	HMGA2	c.282+933T>C	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66346128T>C	(Likely) benign	1 lab	adaeec2e13
19:55879905 IL11 G>C	19	55879905	55879905	G	C	IL11	c.213C>G	NM_000641.4	NP_000632.1:p.(Asn71Lys)	NC_000019.9:g.55879905G>C	VUS	1 lab	adaf432501
4:152096110 SH3D19 G>A	4	152096110	152096110	G	A	SH3D19	c.1246C>T	NM_001378122.1	NP_001365051.1:p.(Pro416Ser)	NC_000004.11:g.152096110G>A	VUS	1 lab	adb06749b9
6:42981134 MEA1 G>T	6	42981134	42981134	G	T	MEA1	c.29-7C>A	NM_014623.4	NP_055438.1:p.?	NC_000006.11:g.42981134G>T	(Likely) benign	1 lab	adb1471abb
18:10550123 NAPG AG>A	18	10550123	10550124	AG	A	NAPG	c.846del	NM_003826.3	NP_003817.1:p.(Lys283AsnfsTer46)	NC_000018.9:g.10550124del	VUS	1 lab	adb2fdbc05
1:38305583 MTF1 G>A	1	38305583	38305583	G	A	MTF1	c.647+9C>T	NM_005955.3	NP_005946.2:p.?	NC_000001.10:g.38305583G>A	(Likely) benign	1 lab	adb31b4d79
17:7221197 NEURL4 C>T	17	7221197	7221197	C	T	NEURL4	c.4115G>A	NM_032442.3	NP_115818.2:p.(Arg1372Gln)	NC_000017.10:g.7221197C>T	(Likely) benign	1 lab	adb458da5c
12:43825208 ADAMTS20 C>T	12	43825208	43825208	C	T	ADAMTS20	c.3188G>A	NM_025003.5	NP_079279.3:p.(Ser1063Asn)	NC_000012.11:g.43825208C>T	(Likely) benign	1 lab	adb87ee1c2
15:93563394 CHD2 G>A	15	93563394	93563394	G	A	CHD2	c.5059G>A	NM_001271.4	NP_001262.3:p.(Gly1687Arg)	NC_000015.9:g.93563394G>A	VUS	1 lab	adb8c1d8e1
10:89504929 PAPSS2 A>G	10	89504929	89504929	A	G	PAPSS2	c.1662A>G	NM_001015880.2	NP_001015880.1:p.(Pro554=)	NC_000010.10:g.89504929A>G	(Likely) benign	1 lab	adbaae2cc1
2:241722018 KIF1A C>G	2	241722018	241722018	C	G	KIF1A	c.871G>C	NM_001244008.2	NP_001230937.1:p.(Gly291Arg)	NC_000002.11:g.241722018C>G	VUS	1 lab	adbbb6a35f
2:48681849 PPP1R21 C>T	2	48681849	48681849	C	T	PPP1R21	c.242C>T	NM_001135629.3	NP_001129101.1:p.(Ala81Val)	NC_000002.11:g.48681849C>T	(Likely) benign	1 lab	adbc6e0997
8:17434813 PDGFRL G>A	8	17434813	17434813	G	A	PDGFRL	c.52G>A	NM_001372073.1	NP_001359002.1:p.(Asp18Asn)	NC_000008.10:g.17434813G>A	(Likely) benign	1 lab	adbca99f0d
6:102247625 GRIK2 C>A	6	102247625	102247625	C	A	GRIK2	c.1054C>A	NM_021956.5	NP_068775.1:p.(Pro352Thr)	NC_000006.11:g.102247625C>A	(Likely) benign	1 lab	adbcf3c5df
15:42115695 MAPKBP1 C>T	15	42115695	42115695	C	T	MAPKBP1	c.3649C>T	NM_014994.3	NP_055809.2:p.(Arg1217Trp)	NC_000015.9:g.42115695C>T	VUS	1 lab	adbd23be60
17:40717073 COASY A>G	17	40717073	40717073	A	G	COASY	c.1302+8A>G	NM_025233.7	NP_079509.5:p.?	NC_000017.10:g.40717073A>G	(Likely) benign	1 lab	adbe5bb566
2:179585816 TTN G>A	2	179585816	179585816	G	A	TTN	c.22930C>T	NM_001267550.2	NP_001254479.2:p.(Arg7644Ter)	NC_000002.11:g.179585816G>A	VUS	1 lab	adbea1ecaa
19:9443685 ZNF559 G>A	19	9443685	9443685	G	A	ZNF559	c.-119-4787G>A	NM_032497.3	NP_115886.1:p.?	NC_000019.9:g.9443685G>A	(Likely) benign	1 lab	adbead69cc
2:73828447 ALMS1 C>T	2	73828447	73828447	C	T	ALMS1	c.11998C>T	NM_001378454.1	NP_001365383.1:p.(Pro4000Ser)	NC_000002.11:g.73828447C>T	VUS	1 lab	adbf75e6b1
20:10622187 JAG1 G>C	20	10622187	10622187	G	C	JAG1	c.2837C>G	NM_000214.3	NP_000205.1:p.(Thr946Arg)	NC_000020.10:g.10622187G>C	(Likely) benign	1 lab	adc0847b4d
7:47920346 PKD1L1 T>C	7	47920346	47920346	T	C	PKD1L1	c.3500A>G	NM_138295.5	NP_612152.1:p.(Tyr1167Cys)	NC_000007.13:g.47920346T>C	VUS	1 lab	adc175a78b
1:145298363 NBPF10 C>T	1	145298363	145298363	C	T	NBPF10	c.775C>T	NM_001302371.3	NP_001289300.1:p.(Pro259Ser)	NC_000001.10:g.145298363C>T	(Likely) benign	1 lab	adc3a0b0fd
8:53596199 RB1CC1 C>T	8	53596199	53596199	C	T	RB1CC1	c.279G>A	NM_014781.5	NP_055596.3:p.(Ser93=)	NC_000008.10:g.53596199C>T	(Likely) benign	1 lab	adc3c597f1
7:150648767 KCNH2 C>T	7	150648767	150648767	C	T	KCNH2	c.1714G>A	NM_000238.4	NP_000229.1:p.(Gly572Ser)	NC_000007.13:g.150648767C>T	(Likely) pathogenic	1 lab	adc45e0cdc
9:129376764 LMX1B G>C	9	129376764	129376764	G	C	LMX1B	c.36G>C	NM_001174147.2	NP_001167618.1:p.(Arg12Ser)	NC_000009.11:g.129376764G>C	(Likely) benign	1 lab	adc5a50435
10:68940116 CTNNA3 G>A	10	68940116	68940116	G	A	CTNNA3	c.1006C>T	NM_013266.4	NP_037398.2:p.(Arg336Cys)	NC_000010.10:g.68940116G>A	VUS	1 lab	adc727deba
11:2154250 IGF2 G>GC	11	2154250	2154255	G	GC	IGF2	c.509dup	NM_000612.6	NP_000603.1:p.(Ala171ArgfsTer53)	NC_000011.9:g.2154255dup	VUS	1 lab	adc74fe2aa
16:1262000 CACNA1H A>G	16	1262000	1262000	A	G	CACNA1H	c.4621A>G	NM_021098.3	NP_066921.2:p.(Ile1541Val)	NC_000016.9:g.1262000A>G	(Likely) benign	1 lab	adc7ad9cff
10:102987194 LBX1 T>A	10	102987194	102987194	T	A	LBX1	c.679A>T	NM_006562.5	NP_006553.2:p.(Arg227Trp)	NC_000010.10:g.102987194T>A	(Likely) benign	1 lab	adc7e0228c
9:135996489 RALGDS G>T	9	135996489	135996489	G	T	RALGDS	c.53C>A	NM_006266.4	NP_006257.1:p.(Pro18Gln)	NC_000009.11:g.135996489G>T	(Likely) benign	1 lab	adc9647076
11:67939172 KMT5B G>A	11	67939172	67939172	G	A	KMT5B	c.658C>T	NM_017635.5	NP_060105.3:p.(Arg220Ter)	NC_000011.9:g.67939172G>A	(Likely) pathogenic	1 lab	adcaccf75b
2:29551313 ALK G>A	2	29551313	29551313	G	A	ALK	c.1317C>T	NM_004304.5	NP_004295.2:p.(Ser439=)	NC_000002.11:g.29551313G>A	(Likely) benign	1 lab	2887246161
16:2158300 PKD1 C>T	16	2158300	2158300	C	T	PKD1	c.6868G>A	NM_001009944.3	NP_001009944.3:p.(Asp2290Asn)	NC_000016.9:g.2158300C>T	(Likely) benign	1 lab	adcc2eb748
15:89400026 ACAN G>T	15	89400026	89400026	G	T	ACAN	c.4210G>T	NM_001369268.1	NP_001356197.1:p.(Ala1404Ser)	NC_000015.9:g.89400026G>T	VUS	1 lab	adcc4d5fb8
12:48370904 COL2A1 G>C	12	48370904	48370904	G	C	COL2A1	c.3308C>G	NM_001844.5	NP_001835.3:p.(Ala1103Gly)	NC_000012.11:g.48370904G>C	VUS	1 lab	adcdd00711
3:119210426 POGLUT1 G>A	3	119210426	119210426	G	A	POGLUT1	c.1022+5G>A	NM_152305.3	NP_689518.1:p.?	NC_000003.11:g.119210426G>A	VUS	1 lab	adcf239023
5:140874422 PCDHGC3 G>A	5	140874422	140874422	G	A	PCDHGC3	c.2479G>A	NM_002588.4	NP_002579.2:p.(Gly827Ser)	NC_000005.9:g.140874422G>A	(Likely) benign	1 lab	adcf9469d3
5:176562711 NSD1 G>A	5	176562711	176562711	G	A	NSD1	c.607G>A	NM_022455.5	NP_071900.2:p.(Val203Ile)	NC_000005.9:g.176562711G>A	(Likely) benign	1 lab	add001fd5b
12:113617107 DDX54 G>C	12	113617107	113617107	G	C	DDX54	c.405C>G	NM_024072.4	NP_076977.3:p.(Asp135Glu)	NC_000012.11:g.113617107G>C	VUS	1 lab	add1e5b26c
X:48462651 WDR13 T>TC	X	48462651	48462653	T	TC	WDR13	c.1155-7dup	NM_001347217.2	NP_001334146.1:p.?	NC_000023.10:g.48462653dup	(Likely) benign	1 lab	add395ec45
8:22064939 BMP1 C>A	8	22064939	22064939	C	A	BMP1	c.2485C>A	NM_006129.5	NP_006120.1:p.(Pro829Thr)	NC_000008.10:g.22064939C>A	VUS	1 lab	add3fef6bf
10:128114570 C10orf90 A>T	10	128114570	128114570	A	T	C10orf90	c.2342T>A	NM_001350921.2	NP_001337850.1:p.(Val781Asp)	NC_000010.10:g.128114570A>T	VUS	1 lab	add4cc2de1
X:31191677 DMD C>T	X	31191677	31191677	C	T	DMD	c.10307G>A	NM_004006.3	NP_003997.2:p.(Arg3436His)	NC_000023.10:g.31191677C>T	VUS	1 lab	add5d55f97
2:169869789 ABCB11 G>A	2	169869789	169869789	G	A	ABCB11	c.382C>T	NM_003742.4	NP_003733.2:p.(Arg128Cys)	NC_000002.11:g.169869789G>A	(Likely) benign	1 lab	add64e060b
8:145738375 RECQL4 C>G	8	145738375	145738375	C	G	RECQL4	c.2610G>C	NM_004260.4	NP_004251.4:p.(Gly870=)	NC_000008.10:g.145738375C>G	(Likely) benign	1 lab	add6b3c684
19:7143038 INSR C>T	19	7143038	7143038	C	T	INSR	c.2331G>A	NM_000208.4	NP_000199.2:p.(Val777=)	NC_000019.9:g.7143038C>T	(Likely) benign	1 lab	add9a6ae6d
12:4479660 FGF23 G>A	12	4479660	4479660	G	A	FGF23	c.605C>T	NM_020638.3	NP_065689.1:p.(Ala202Val)	NC_000012.11:g.4479660G>A	(Likely) benign	1 lab	adda88e64c
9:15465555 PSIP1 GTC>G	9	15465555	15465566	GTC	G	PSIP1	c.1554_1555del	NM_033222.5	NP_150091.2:p.(Glu518AspfsTer2)	NC_000009.11:g.15465565_15465566del	VUS	1 lab	addb772157
11:17794050 KCNC1 A>G	11	17794050	17794050	A	G	KCNC1	c.1409A>G	NM_001112741.2	NP_001106212.1:p.(Asn470Ser)	NC_000011.9:g.17794050A>G	(Likely) benign	1 lab	addc55ae48
X:151935244 MAGEA6 A>G	X	151935244	151935244	A	G	MAGEA6	c.923=	NM_005363.5	NP_005354.1:p.(Ala308=)	NC_000023.10:g.151935244A>G	(Likely) benign	1 lab	addf3d9a7f
5:58513515 PDE4D C>T	5	58513515	58513515	C	T	PDE4D	c.456-1721G>A	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58513515C>T	(Likely) benign	1 lab	addff69d23
9:135946723 CEL G>GC	9	135946723	135946731	G	GC	CEL	c.1842dup	NM_001807.6	NP_001798.3:p.(Val615ArgfsTer6)	NC_000009.11:g.135946731dup	VUS	1 lab	ade1b097e4
2:207175443 ZDBF2 C>T	2	207175443	207175443	C	T	ZDBF2	c.6191C>T	NM_020923.3	NP_065974.1:p.(Pro2064Leu)	NC_000002.11:g.207175443C>T	(Likely) benign	1 lab	ade22cb092
4:94376872 GRID2 C>G	4	94376872	94376872	C	G	GRID2	c.1605C>G	NM_001510.4	NP_001501.2:p.(Asp535Glu)	NC_000004.11:g.94376872C>G	VUS	1 lab	ade23c0bdb
2:179395918 TTN C>T	2	179395918	179395918	C	T	TTN	c.105424G>A	NM_001267550.2	NP_001254479.2:p.(Glu35142Lys)	NC_000002.11:g.179395918C>T	VUS	1 lab	ade276c085
6:33419619 SYNGAP1 CACCA>C	6	33419619	33419623	CACCA	C	SYNGAP1	c.3969_3972del	NM_006772.3	NP_006763.2:p.(Pro1325HisfsTer63)	NC_000006.11:g.33419620_33419623del	VUS	1 lab	ade50af00c
6:51484228 PKHD1 A>G	6	51484228	51484228	A	G	PKHD1	c.11876T>C	NM_138694.4	NP_619639.3:p.(Ile3959Thr)	NC_000006.11:g.51484228A>G	(Likely) benign	1 lab	ade57984f0
3:129249775 RHO T>G	3	129249775	129249775	T	G	RHO	c.418T>G	NM_000539.3	NP_000530.1:p.(Cys140Gly)	NC_000003.11:g.129249775T>G	VUS	1 lab	ade7408b4a
2:233633353 GIGYF2 C>T	2	233633353	233633353	C	T	GIGYF2	c.532+7207C>T	NM_001103146.3	NP_001096616.1:p.?	NC_000002.11:g.233633353C>T	VUS	1 lab	ade89a0745
16:65016116 CDH11 G>A	16	65016116	65016116	G	A	CDH11	c.1088C>T	NM_001797.4	NP_001788.2:p.(Pro363Leu)	NC_000016.9:g.65016116G>A	VUS	1 lab	ade91988b3
5:127680147 FBN2 A>G	5	127680147	127680147	A	G	FBN2	c.3273T>C	NM_001999.4	NP_001990.2:p.(Asn1091=)	NC_000005.9:g.127680147A>G	(Likely) benign	1 lab	ade9b10638
1:11917720 NPPB G>A	1	11917720	11917720	G	A	NPPB	c.397C>T	NM_002521.3	NP_002512.1:p.(Arg133Trp)	NC_000001.10:g.11917720G>A	(Likely) benign	1 lab	adeac884c3
6:33419606 SYNGAP1 G>GC	6	33419606	33419613	G	GC	SYNGAP1	c.3962dup	NM_006772.3	NP_006763.2:p.(Ala1322SerfsTer41)	NC_000006.11:g.33419613dup	(Likely) benign	1 lab	adeb3ba812
4:1720002 TMEM129 T>G	4	1720002	1720002	T	G	TMEM129	c.557A>C	NM_001127266.2	NP_001120738.1:p.(Asp186Ala)	NC_000004.11:g.1720002T>G	(Likely) benign	1 lab	adeb6e67ea
5:176931594 MISSING G>C	5	176931594	176931594	G	C	MISSING				NC_000005.9:g.176931594G>C	(Likely) benign	1 lab	a152c4f8e3
5:140188340 PCDHA1 T>C	5	140188340	140188340	T	C	PCDHA1	c.2394+20071T>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140188340T>C	VUS	1 lab	adebb22c7d
3:171455451 PLD1 TA>T	3	171455451	171455461	TA	T	PLD1	c.161-3del	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171455461del	(Likely) benign	1 lab	adee0424ba
6:13286492 PHACTR1 C>T	6	13286492	13286492	C	T	PHACTR1	c.1727+38C>T	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13286492C>T	(Likely) benign	1 lab	adf0dc9f60
2:216289921 FN1 T>A	2	216289921	216289921	T	A	FN1	c.932A>T	NM_212482.4	NP_997647.2:p.(Asp311Val)	NC_000002.11:g.216289921T>A	VUS	1 lab	adf1b04d71
14:79423656 NRXN3 C>T	14	79423656	79423656	C	T	NRXN3	c.2347C>T	NM_001330195.2	NP_001317124.1:p.(Arg783Trp)	NC_000014.8:g.79423656C>T	VUS	1 lab	adf28d4160
1:22191443 HSPG2 T>C	1	22191443	22191443	T	C	HSPG2	c.4519A>G	NM_005529.7	NP_005520.4:p.(Ser1507Gly)	NC_000001.10:g.22191443T>C	(Likely) benign	1 lab	adf3016bde
11:85968585 EED A>G	11	85968585	85968585	A	G	EED	c.581A>G	NM_003797.5	NP_003788.2:p.(Asn194Ser)	NC_000011.9:g.85968585A>G	(Likely) pathogenic	1 lab	adf714e614
2:113496453 NT5DC4 G>A	2	113496453	113496453	G	A	NT5DC4	c.1345-37G>A	NM_001393655.1	NP_001380584.1:p.?	NC_000002.11:g.113496453G>A	(Likely) benign	1 lab	adf8b10a15
3:8775641 CAV3 C>G	3	8775641	8775641	C	G	CAV3	c.79C>G	NM_033337.3	NP_203123.1:p.(Arg27Gly)	NC_000003.11:g.8775641C>G	(Likely) pathogenic	1 lab	adf9e194b4
11:32118763 RCN1 C>T	11	32118763	32118763	C	T	RCN1	c.328C>T	NM_002901.4	NP_002892.1:p.(Arg110Trp)	NC_000011.9:g.32118763C>T	VUS	1 lab	adfa11c964
1:173720961 KLHL20 C>T	1	173720961	173720961	C	T	KLHL20	c.656C>T	NM_014458.4	NP_055273.2:p.(Ser219Phe)	NC_000001.10:g.173720961C>T	(Likely) benign	1 lab	adfa672a04
6:157469876 ARID1B A>ATGTGG	6	157469876	157469883	A	ATGTGG	ARID1B	c.2883_2887dup	NM_001374828.1	NP_001361757.1:p.(Ala963ValfsTer23)	NC_000006.11:g.157469879_157469883dup	(Likely) pathogenic	1 lab	adfb5636ed
19:1401394 GAMT C>G	19	1401394	1401394	C	G	GAMT	c.82G>C	NM_000156.6	NP_000147.1:p.(Asp28His)	NC_000019.9:g.1401394C>G	VUS	1 lab	adfcb6d5dc
11:17409264 KCNJ11 A>C	11	17409264	17409264	A	C	KCNJ11	c.375T>G	NM_000525.4	NP_000516.3:p.(Ile125Met)	NC_000011.9:g.17409264A>C	VUS	1 lab	adfef66d91
3:123428604 MYLK T>G	3	123428604	123428604	T	G	MYLK	c.1941A>C	NM_053025.4	NP_444253.3:p.(Ser647=)	NC_000003.11:g.123428604T>G	VUS	1 lab	adff15c4e4
11:57564326 CTNND1 A>G	11	57564326	57564326	A	G	CTNND1	c.818A>G	NM_001085458.2	NP_001078927.1:p.(His273Arg)	NC_000011.9:g.57564326A>G	(Likely) benign	1 lab	ae00b27527
9:131302598 GLE1 G>T	9	131302598	131302598	G	T	GLE1	c.2009G>T	NM_001003722.2	NP_001003722.1:p.(Arg670Leu)	NC_000009.11:g.131302598G>T	(Likely) pathogenic	1 lab	ae00e823c5
4:6621722 MAN2B2 G>T	4	6621722	6621722	G	T	MAN2B2	c.2883G>T	NM_015274.3	NP_056089.1:p.(Leu961Phe)	NC_000004.11:g.6621722G>T	(Likely) benign	1 lab	2a46fc7e09
2:179474120 TTN CCCTT>C	2	179474120	179474129	CCCTT	C	TTN	c.51913_51916del	NM_001267550.2	NP_001254479.2:p.(Lys17305ValfsTer13)	NC_000002.11:g.179474126_179474129del	(Likely) pathogenic	1 lab	288a8e8d92
16:2160617 PKD1 G>T	16	2160617	2160617	G	T	PKD1	c.4551C>A	NM_001009944.3	NP_001009944.3:p.(Tyr1517Ter)	NC_000016.9:g.2160617G>T	(Likely) pathogenic	1 lab	ae050cc01b
16:3706635 DNASE1 G>A	16	3706635	3706635	G	A	DNASE1	c.321-4G>A	NM_005223.4	NP_005214.2:p.?	NC_000016.9:g.3706635G>A	(Likely) benign	1 lab	ae09836617
X:100169451 XKRX C>T	X	100169451	100169451	C	T	XKRX	c.1226G>A	NM_212559.3	NP_997724.2:p.(Arg409His)	NC_000023.10:g.100169451C>T	(Likely) benign	1 lab	ae0a454ba8
19:53453857 ZNF816 G>T	19	53453857	53453857	G	T	ZNF816	c.1171C>A	NM_001202457.3	NP_001189386.1:p.(His391Asn)	NC_000019.9:g.53453857G>T	VUS	1 lab	ae0af60985
9:129458248 LMX1B G>A	9	129458248	129458248	G	A	LMX1B	c.1017G>A	NM_002316.4	NP_002307.2:p.(Pro339=)	NC_000009.11:g.129458248G>A	(Likely) benign	1 lab	33626da7c8
16:30745856 SRCAP C>T	16	30745856	30745856	C	T	SRCAP	c.6649C>T	NM_006662.3	NP_006653.2:p.(Pro2217Ser)	NC_000016.9:g.30745856C>T	VUS	1 lab	ae0bf187f7
11:128709228 KCNJ1 T>C	11	128709228	128709228	T	C	KCNJ1	c.911A>G	NM_153766.3	NP_722450.1:p.(Tyr304Cys)	NC_000011.9:g.128709228T>C	VUS	1 lab	ae0c22705e
6:152443674 SYNE1 A>G	6	152443674	152443674	A	G	SYNE1	c.26291T>C	NM_182961.4	NP_892006.3:p.(Leu8764Pro)	NC_000006.11:g.152443674A>G	VUS	1 lab	ae0cbc5a43
15:89398825 ACAN C>T	15	89398825	89398825	C	T	ACAN	c.3009C>T	NM_013227.4	NP_037359.3:p.(Thr1003=)	NC_000015.9:g.89398825C>T	(Likely) benign	1 lab	288ff426d6
1:61872228 NFIA C>A	1	61872228	61872228	C	A	NFIA	c.1255-6C>A	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872228C>A	(Likely) benign	1 lab	ae0e9ded04
17:37830916 PGAP3 C>T	17	37830916	37830916	C	T	PGAP3	c.449G>A	NM_033419.5	NP_219487.3:p.(Trp150Ter)	NC_000017.10:g.37830916C>T	(Likely) pathogenic	1 lab	ae0efecf13
8:125035705 FER1L6 G>A	8	125035705	125035705	G	A	FER1L6	c.2155G>A	NM_001039112.2	NP_001034201.2:p.(Val719Ile)	NC_000008.10:g.125035705G>A	VUS	1 lab	ae10b0713c
1:38273498 YRDC C>T	1	38273498	38273498	C	T	YRDC	c.355G>A	NM_024640.4	NP_078916.3:p.(Ala119Thr)	NC_000001.10:g.38273498C>T	VUS	1 lab	ae1148d7d9
2:25505265 DNMT3A T>C	2	25505265	25505265	T	C	DNMT3A	c.448+45A>G	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25505265T>C	(Likely) benign	1 lab	ae119ab87f
21:47847548 PCNT G>A	21	47847548	47847548	G	A	PCNT	c.7333G>A	NM_006031.6	NP_006022.3:p.(Ala2445Thr)	NC_000021.8:g.47847548G>A	VUS	1 lab	ae142bab57
7:21598564 DNAH11 A>G	7	21598564	21598564	A	G	DNAH11	c.640A>G	NM_001277115.2	NP_001264044.1:p.(Ile214Val)	NC_000007.13:g.21598564A>G	(Likely) benign	1 lab	ae150c3239
12:65564168 LEMD3 G>GGAC	12	65564168	65564181	G	GGAC	LEMD3	c.803_805dup	NM_014319.5	NP_055134.2:p.(Asp268dup)	NC_000012.11:g.65564179_65564181dup	(Likely) benign	1 lab	ae16ed34ce
5:33457501 TARS1 T>C	5	33457501	33457501	T	C	TARS1	c.977T>C	NM_152295.5	NP_689508.3:p.(Ile326Thr)	NC_000005.9:g.33457501T>C	(Likely) benign	1 lab	ae179bdea3
21:45732886 PFKL GACCTACTCGC>G	21	45732886	45732900	GACCTACTCGC	G	PFKL	c.608_617del	NM_001002021.3	NP_001002021.2:p.(Tyr203Ter)	NC_000021.8:g.45732891_45732900del	VUS	1 lab	2890ca047f
9:2651874 VLDLR G>T	9	2651874	2651874	G	T	VLDLR	c.2336G>T	NM_003383.5	NP_003374.3:p.(Gly779Val)	NC_000009.11:g.2651874G>T	VUS	1 lab	ae462f8bf8
16:3778911 CREBBP G>A	16	3778911	3778911	G	A	CREBBP	c.6137C>T	NM_004380.3	NP_004371.2:p.(Ala2046Val)	NC_000016.9:g.3778911G>A	(Likely) benign	1 lab	ae191cea63
6:32298375 TSBP1 C>T	6	32298375	32298375	C	T	TSBP1	c.457G>A	NM_001286474.2	NP_001273403.1:p.(Gly153Arg)	NC_000006.11:g.32298375C>T	(Likely) benign	1 lab	ae19baa96b
16:70509626 FCSK C>T	16	70509626	70509626	C	T	FCSK	c.2597C>T	NM_145059.3	NP_659496.2:p.(Ala866Val)	NC_000016.9:g.70509626C>T	VUS	1 lab	ae19bcfdc2
2:71886125 DYSF C>T	2	71886125	71886125	C	T	DYSF	c.4873C>T	NM_001130987.2	NP_001124459.1:p.(Arg1625Ter)	NC_000002.11:g.71886125C>T	VUS	1 lab	ae1a38ac99
15:89392833 ACAN C>T	15	89392833	89392833	C	T	ACAN	c.1897C>T	NM_001369268.1	NP_001356197.1:p.(Arg633Cys)	NC_000015.9:g.89392833C>T	VUS	1 lab	ae1d6833ea
15:28600002 GOLGA6L24 T>A	15	28600002	28600002	T	A	GOLGA6L24	c.348A>T	NM_001394758.1	NP_001381687.1:p.(Gln116His)	NC_000015.9:g.28600002T>A	(Likely) benign	1 lab	ae1dd5a5a8
16:30734988 SRCAP A>G	16	30734988	30734988	A	G	SRCAP	c.4243A>G	NM_006662.3	NP_006653.2:p.(Met1415Val)	NC_000016.9:g.30734988A>G	(Likely) benign	1 lab	ae1f53a499
1:231557164 EGLN1 C>G	1	231557164	231557164	C	G	EGLN1	c.471G>C	NM_022051.3	NP_071334.1:p.(Gln157His)	NC_000001.10:g.231557164C>G	(Likely) benign	1 lab	ae1f61bc60
19:5032572 KDM4B C>T	19	5032572	5032572	C	T	KDM4B	c.-25-305C>T	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5032572C>T	(Likely) benign	1 lab	ae1fd3a30d
14:23862875 MYH6 C>T	14	23862875	23862875	C	T	MYH6	c.2928G>A	NM_002471.4	NP_002462.2:p.(Lys976=)	NC_000014.8:g.23862875C>T	VUS	1 lab	ae2053fce7
17:76488805 DNAH17 T>G	17	76488805	76488805	T	G	DNAH17	c.6451A>C	NM_173628.4	NP_775899.3:p.(Lys2151Gln)	NC_000017.10:g.76488805T>G	(Likely) benign	1 lab	ae2104fffe
2:233347838 ECEL1 C>T	2	233347838	233347838	C	T	ECEL1	c.1558G>A	NM_004826.4	NP_004817.2:p.(Asp520Asn)	NC_000002.11:g.233347838C>T	VUS	1 lab	ae21dba343
18:210398 USP14 A>G	18	210398	210398	A	G	USP14	c.1238A>G	NM_005151.4	NP_005142.1:p.(Asn413Ser)	NC_000018.9:g.210398A>G	VUS	1 lab	ae21f47777
5:112173685 APC TTA>T	5	112173685	112173688	TTA	T	APC	c.2396_2397del	NM_000038.6	NP_000029.2:p.(Tyr799CysfsTer3)	NC_000005.9:g.112173687_112173688del	(Likely) pathogenic	1 lab	ae2362d802
X:35821157 MAGEB16 A>G	X	35821157	35821157	A	G	MAGEB16	c.844A>G	NM_001370158.1	NP_001357087.1:p.(Lys282Glu)	NC_000023.10:g.35821157A>G	VUS	1 lab	ae25ba0534
10:102510440 PAX2 TC>T	10	102510440	102510443	TC	T	PAX2	c.213-8del	NM_000278.5	NP_000269.3:p.?	NC_000010.10:g.102510443del	(Likely) benign	1 lab	ae26180882
19:42860283 MEGF8 G>A	19	42860283	42860283	G	A	MEGF8	c.4441G>A	NM_001271938.2	NP_001258867.1:p.(Ala1481Thr)	NC_000019.9:g.42860283G>A	VUS	1 lab	ae28d22f3a
7:45115559 CCM2 C>T	7	45115559	45115559	C	T	CCM2	c.1238C>T	NM_031443.4	NP_113631.1:p.(Ser413Leu)	NC_000007.13:g.45115559C>T	(Likely) benign	1 lab	ae2f54a28d
22:42575687 TCF20 C>T	22	42575687	42575687	C	T	TCF20	c.5677G>A	NM_001378418.1	NP_001365347.1:p.(Ala1893Thr)	NC_000022.10:g.42575687C>T	(Likely) benign	1 lab	ae31f76a61
11:6592884 DNHD1 C>A	11	6592884	6592884	C	A	DNHD1	c.13930C>A	NM_144666.3	NP_653267.2:p.(Pro4644Thr)	NC_000011.9:g.6592884C>A	VUS	1 lab	ae32ef3e37
2:152512313 NEB G>A	2	152512313	152512313	G	A	NEB	c.6702+18C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152512313G>A	(Likely) benign	1 lab	ae4059185d
2:178576563 PDE11A G>A	2	178576563	178576563	G	A	PDE11A	c.2087C>T	NM_016953.4	NP_058649.3:p.(Ala696Val)	NC_000002.11:g.178576563G>A	(Likely) benign	1 lab	ae33ddf987
X:70341001 MED12 A>G	X	70341001	70341001	A	G	MED12	c.734A>G	NM_005120.3	NP_005111.2:p.(Gln245Arg)	NC_000023.10:g.70341001A>G	VUS	1 lab	ae34626c94
3:135722117 PPP2R3A C>G	3	135722117	135722117	C	G	PPP2R3A	c.1777C>G	NM_002718.5	NP_002709.2:p.(Arg593Gly)	NC_000003.11:g.135722117C>G	(Likely) benign	1 lab	ae35142766
X:15474167 PIR G>A	X	15474167	15474167	G	A	PIR	c.284C>T	NM_001018109.3	NP_001018119.1:p.(Ala95Val)	NC_000023.10:g.15474167G>A	(Likely) benign	1 lab	ae366dd686
6:57058709 RAB23 A>G	6	57058709	57058709	A	G	RAB23	c.505T>C	NM_016277.5	NP_057361.3:p.(Tyr169His)	NC_000006.11:g.57058709A>G	VUS	1 lab	ae36e881f2
X:139586372 SOX3 G>C	X	139586372	139586372	G	C	SOX3	c.854C>G	NM_005634.3	NP_005625.2:p.(Pro285Arg)	NC_000023.10:g.139586372G>C	VUS	1 lab	ae38bb3e1d
16:17292147 XYLT1 C>T	16	17292147	17292147	C	T	XYLT1	c.1211G>A	NM_022166.4	NP_071449.1:p.(Ser404Asn)	NC_000016.9:g.17292147C>T	VUS	1 lab	ae39faa5bb
1:24172556 FUCA1 C>T	1	24172556	24172556	C	T	FUCA1	c.1260+8G>A	NM_000147.5	NP_000138.2:p.?	NC_000001.10:g.24172556C>T	(Likely) benign	1 lab	ae3a507b4a
19:55089141 LILRA2 C>A	19	55089141	55089141	C	A	LILRA2	c.1255+1565C>A	NM_001130917.3	NP_001124389.2:p.?	NC_000019.9:g.55089141C>A	(Likely) benign	1 lab	ae3bd2c214
19:42857210 MEGF8 C>T	19	42857210	42857210	C	T	MEGF8	c.3481C>T	NM_001271938.2	NP_001258867.1:p.(Arg1161Trp)	NC_000019.9:g.42857210C>T	VUS	1 lab	ae3c28e4d5
1:204956575 NFASC C>T	1	204956575	204956575	C	T	NFASC	c.2500C>T	NM_001005388.3	NP_001005388.2:p.(Arg834Trp)	NC_000001.10:g.204956575C>T	VUS	1 lab	ae3d07dedb
2:74686776 WBP1 G>C	2	74686776	74686776	G	C	WBP1	c.76G>C	NM_012477.4	NP_036609.1:p.(Glu26Gln)	NC_000002.11:g.74686776G>C	VUS	1 lab	ae3d9fd485
7:99711347 TAF6 C>T	7	99711347	99711347	C	T	TAF6	c.289G>A	NM_139315.3	NP_647476.1:p.(Ala97Thr)	NC_000007.13:g.99711347C>T	VUS	1 lab	ae3dfb0430
7:142583338 TRPV6 GC>G	7	142583338	142583345	GC	G	TRPV6	c.43del	NM_018646.6	NP_061116.5:p.(Ala15LeufsTer7)	NC_000007.13:g.142583345del	VUS	1 lab	ae3e6a0253
2:223066133 PAX3 G>A	2	223066133	223066133	G	A	PAX3	c.1449C>T	NM_181458.4	NP_852123.1:p.(Ile483=)	NC_000002.11:g.223066133G>A	(Likely) benign	1 lab	ae40e50f8a
17:65908322 BPTF A>G	17	65908322	65908322	A	G	BPTF	c.4322A>G	NM_182641.4	NP_872579.2:p.(Asn1441Ser)	NC_000017.10:g.65908322A>G	(Likely) benign	1 lab	ae429782f4
14:102516530 DYNC1H1 A>G	14	102516530	102516530	A	G	DYNC1H1	c.13807A>G	NM_001376.5	NP_001367.2:p.(Ser4603Gly)	NC_000014.8:g.102516530A>G	VUS	1 lab	289117a5b5
13:111268119 NAXD C>T	13	111268119	111268119	C	T	NAXD	c.46+125C>T	NM_001242882.2	NP_001229811.1:p.?	NC_000013.10:g.111268119C>T	VUS	1 lab	ae45167bef
20:47604934 ARFGEF2 C>A	20	47604934	47604934	C	A	ARFGEF2	c.2361+9C>A	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47604934C>A	(Likely) benign	1 lab	ae459fb90c
11:66191627 NPAS4 C>G	11	66191627	66191627	C	G	NPAS4	c.1266C>G	NM_178864.4	NP_849195.2:p.(Cys422Trp)	NC_000011.9:g.66191627C>G	VUS	1 lab	ae46b55397
19:1828597 REXO1 G>A	19	1828597	1828597	G	A	REXO1	c.191C>T	NM_020695.4	NP_065746.3:p.(Pro64Leu)	NC_000019.9:g.1828597G>A	(Likely) benign	1 lab	ae47c3c205
X:152013020 NSDHL G>A	X	152013020	152013020	G	A	NSDHL	c.-43-1806G>A	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.152013020G>A	(Likely) benign	1 lab	ae48ab3bcf
3:122003206 CASR A>G	3	122003206	122003206	A	G	CASR	c.2405A>G	NM_000388.4	NP_000379.3:p.(Asn802Ser)	NC_000003.11:g.122003206A>G	VUS	1 lab	ae48f44f3c
1:40562908 PPT1 C>T	1	40562908	40562908	C	T	PPT1	c.3G>A	NM_000310.4	NP_000301.1:p.(Met1?)	NC_000001.10:g.40562908C>T	VUS	1 lab	ae49d85caf
1:169512078 F5 CTCT>C	1	169512078	169512089	CTCT	C	F5	c.2247_2249del	NM_000130.5	NP_000121.2:p.(Glu750del)	NC_000001.10:g.169512087_169512089del	VUS	1 lab	ae4a2553e5
1:43213866 P3H1 C>A	1	43213866	43213866	C	A	P3H1	c.1838+5G>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43213866C>A	(Likely) benign	1 lab	ae4b6844ed
1:6266682 RNF207 C>CG	1	6266682	6266683	C	CG	RNF207	c.88dup	NM_207396.3	NP_997279.2:p.(Val30GlyfsTer73)	NC_000001.10:g.6266683dup	VUS	1 lab	ae4b6f72bd
20:941049 RSPO4 A>C	20	941049	941049	A	C	RSPO4	c.656T>G	NM_001029871.4	NP_001025042.2:p.(Leu219Arg)	NC_000020.10:g.941049A>C	(Likely) benign	1 lab	ae4d44e68d
1:22456247 WNT4 G>A	1	22456247	22456247	G	A	WNT4	c.175C>T	NM_030761.5	NP_110388.2:p.(Arg59Trp)	NC_000001.10:g.22456247G>A	VUS	1 lab	ae4dd6cc6e
13:32971015 BRCA2 T>C	13	32971015	32971015	T	C	BRCA2	c.9502-20T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32971015T>C	(Likely) benign	1 lab	ae4f12a064
3:121973105 CASR C>A	3	121973105	121973105	C	A	CASR	c.69C>A	NM_000388.4	NP_000379.3:p.(Asp23Glu)	NC_000003.11:g.121973105C>A	(Likely) pathogenic	1 lab	ae55d61620
17:61907847 PSMC5 A>G	17	61907847	61907847	A	G	PSMC5	c.538A>G	NM_002805.6	NP_002796.4:p.(Ile180Val)	NC_000017.10:g.61907847A>G	VUS	1 lab	ae5655b9aa
16:2140432 PKD1 G>T	16	2140432	2140432	G	T	PKD1	c.12298C>A	NM_001009944.3	NP_001009944.3:p.(Arg4100=)	NC_000016.9:g.2140432G>T	(Likely) benign	1 lab	ae58201b97
10:127460791 MMP21 C>T	10	127460791	127460791	C	T	MMP21	c.975G>A	NM_147191.1	NP_671724.1:p.(Leu325=)	NC_000010.10:g.127460791C>T	(Likely) benign	1 lab	ae5ab49fdc
20:9402115 PLCB4 C>T	20	9402115	9402115	C	T	PLCB4	c.2319+7C>T	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9402115C>T	VUS	1 lab	ae5b556026
19:54485842 CACNG8 GGCCGGGGGC>G	19	54485842	54485861	GGCCGGGGGC	G	CACNG8	c.1028_1036del	NM_031895.6	NP_114101.4:p.(Ala343_Gly345del)	NC_000019.9:g.54485853_54485861del	VUS	1 lab	ae5c3ffc08
12:69083372 NUP107 C>T	12	69083372	69083372	C	T	NUP107	c.160C>T	NM_020401.4	NP_065134.1:p.(Arg54Ter)	NC_000012.11:g.69083372C>T	VUS	1 lab	ae5c75d4eb
5:10442371 ROPN1L T>C	5	10442371	10442371	T	C	ROPN1L	c.92T>C	NM_031916.5	NP_114122.2:p.(Ile31Thr)	NC_000005.9:g.10442371T>C	VUS	1 lab	ae5da99328
1:47882312 FOXE3 C>T	1	47882312	47882312	C	T	FOXE3	c.325C>T	NM_012186.3	NP_036318.1:p.(Arg109Cys)	NC_000001.10:g.47882312C>T	VUS	1 lab	ae5e4e22ea
8:61763062 CHD7 G>C	8	61763062	61763062	G	C	CHD7	c.5415G>C	NM_017780.4	NP_060250.2:p.(Lys1805Asn)	NC_000008.10:g.61763062G>C	VUS	1 lab	ae5efd689b
20:44144247 SPINT3 A>G	20	44144247	44144247	A	G	SPINT3	c.2T>C	NM_006652.2	NP_006643.1:p.(Met1?)	NC_000020.10:g.44144247A>G	VUS	1 lab	ae5f823d60
11:108121581 ATM ATTGTG>A	11	108121581	108121587	ATTGTG	A	ATM	c.1391_1395del	NM_000051.4	NP_000042.3:p.(Leu464SerfsTer21)	NC_000011.9:g.108121583_108121587del	(Likely) pathogenic	1 lab	ae61d370b7
16:30735924 SRCAP A>C	16	30735924	30735924	A	C	SRCAP	c.5179A>C	NM_006662.3	NP_006653.2:p.(Thr1727Pro)	NC_000016.9:g.30735924A>C	VUS	1 lab	ae61f4bf28
4:6302560 WFS1 G>A	4	6302560	6302560	G	A	WFS1	c.1038G>A	NM_006005.3	NP_005996.2:p.(Pro346=)	NC_000004.11:g.6302560G>A	(Likely) benign	1 lab	ae61f68325
16:1575323 IFT140 C>T	16	1575323	1575323	C	T	IFT140	c.2773G>A	NM_014714.4	NP_055529.2:p.(Glu925Lys)	NC_000016.9:g.1575323C>T	VUS	1 lab	ae62b54597
15:89381895 ACAN C>A	15	89381895	89381895	C	A	ACAN	c.72C>A	NM_001369268.1	NP_001356197.1:p.(Asp24Glu)	NC_000015.9:g.89381895C>A	(Likely) benign	1 lab	ae6631425e
5:149771122 TCOF1 C>T	5	149771122	149771122	C	T	TCOF1	c.3199C>T	NM_001371623.1	NP_001358552.1:p.(Pro1067Ser)	NC_000005.9:g.149771122C>T	(Likely) benign	1 lab	ae667055a9
7:1785444 ELFN1 C>G	7	1785444	1785444	C	G	ELFN1	c.1212C>G	NM_001128636.4	NP_001122108.1:p.(Ser404Arg)	NC_000007.13:g.1785444C>G	VUS	1 lab	ae66ee2e23
12:56719109 PAN2 C>A	12	56719109	56719109	C	A	PAN2	c.1479+10G>T	NM_014871.6	NP_055686.4:p.?	NC_000012.11:g.56719109C>A	(Likely) benign	1 lab	ae681e4d2a
X:24382435 SUPT20HL1 C>G	X	24382435	24382435	C	G	SUPT20HL1	c.1558C>G	NM_001136234.3	NP_001129706.3:p.(Pro520Ala)	NC_000023.10:g.24382435C>G	VUS	1 lab	ae6849c364
X:153688843 PLXNA3 G>A	X	153688843	153688843	G	A	PLXNA3	c.320G>A	NM_017514.5	NP_059984.3:p.(Arg107His)	NC_000023.10:g.153688843G>A	(Likely) benign	1 lab	ae6beee8fc
5:14419900 TRIO G>C	5	14419900	14419900	G	C	TRIO	c.4973G>C	NM_007118.4	NP_009049.2:p.(Cys1658Ser)	NC_000005.9:g.14419900G>C	VUS	1 lab	ae6cafd961
2:109545667 EDAR G>C	2	109545667	109545667	G	C	EDAR	c.343C>G	NM_022336.4	NP_071731.1:p.(Pro115Ala)	NC_000002.11:g.109545667G>C	VUS	1 lab	ae7267ddde
14:103410464 CDC42BPB G>A	14	103410464	103410464	G	A	CDC42BPB	c.4172C>T	NM_006035.4	NP_006026.3:p.(Pro1391Leu)	NC_000014.8:g.103410464G>A	(Likely) benign	1 lab	ae7306a1cc
4:1940143 NSD2 CTT>C	4	1940143	1940168	CTT	C	NSD2	c.1675-11_1675-10del	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1940167_1940168del	(Likely) benign	1 lab	ae7407343d
7:103162468 RELN C>A	7	103162468	103162468	C	A	RELN	c.7668+1G>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103162468C>A	(Likely) pathogenic	1 lab	ae75d28d2f
4:6302757 WFS1 T>C	4	6302757	6302757	T	C	WFS1	c.1235T>C	NM_006005.3	NP_005996.2:p.(Val412Ala)	NC_000004.11:g.6302757T>C	(Likely) benign	1 lab	ae76b62748
3:158407984 GFM1 C>T	3	158407984	158407984	C	T	GFM1	c.1942C>T	NM_024996.7	NP_079272.4:p.(Pro648Ser)	NC_000003.11:g.158407984C>T	VUS	1 lab	ae77153a04
16:4431767 CORO7 C>T	16	4431767	4431767	C	T	CORO7	c.785+6220G>A	NM_024535.5	NP_078811.3:p.?	NC_000016.9:g.4431767C>T	(Likely) benign	1 lab	ae78095ca8
17:7402707 POLR2A G>A	17	7402707	7402707	G	A	POLR2A	c.1568G>A	NM_000937.5	NP_000928.1:p.(Arg523His)	NC_000017.10:g.7402707G>A	VUS	1 lab	aeb0e8e60d
2:178592456 PDE11A T>C	2	178592456	178592456	T	C	PDE11A	c.1973A>G	NM_016953.4	NP_058649.3:p.(Tyr658Cys)	NC_000002.11:g.178592456T>C	(Likely) benign	1 lab	ae78dd80cb
5:112111339 APC G>A	5	112111339	112111339	G	A	APC	c.436G>A	NM_000038.6	NP_000029.2:p.(Ala146Thr)	NC_000005.9:g.112111339G>A	VUS	1 lab	ae7964da44
1:228336430 GUK1 C>G	1	228336430	228336430	C	G	GUK1	c.*32C>G	NM_001159390.2	NP_001152862.1:p.?	NC_000001.10:g.228336430C>G	(Likely) benign	1 lab	ae7b136430
1:225519220 DNAH14 A>G	1	225519220	225519220	A	G	DNAH14	c.9805A>G	NM_001367479.1	NP_001354408.1:p.(Met3269Val)	NC_000001.10:g.225519220A>G	VUS	1 lab	ae7b5afb7e
19:39948381 SUPT5H G>A	19	39948381	39948381	G	A	SUPT5H	c.307+1G>A	NM_001111020.3	NP_001104490.1:p.?	NC_000019.9:g.39948381G>A	(Likely) pathogenic	1 lab	ae7b82ffc7
2:25470548 DNMT3A CG>C	2	25470548	25470550	CG	C	DNMT3A	c.925del	NM_022552.5	NP_072046.2:p.(Arg309AlafsTer7)	NC_000002.11:g.25470550del	VUS	1 lab	ae7d5a70e9
1:43223563 P3H1 G>A	1	43223563	43223563	G	A	P3H1	c.971C>T	NM_022356.4	NP_071751.3:p.(Ala324Val)	NC_000001.10:g.43223563G>A	VUS	1 lab	ae800eaf92
15:99491841 IGF1R C>G	15	99491841	99491841	C	G	IGF1R	c.3626C>G	NM_000875.5	NP_000866.1:p.(Ala1209Gly)	NC_000015.9:g.99491841C>G	VUS	1 lab	ae83356869
1:12091464 MIIP C>T	1	12091464	12091464	C	T	MIIP	c.1080+4C>T	NM_021933.4	NP_068752.2:p.?	NC_000001.10:g.12091464C>T	VUS	1 lab	ae838e7c5f
16:3790755 CREBBP T>C	16	3790755	3790755	T	C	CREBBP	c.3983-205A>G	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3790755T>C	(Likely) benign	1 lab	ae83ae570e
5:14184364 TRIO C>T	5	14184364	14184364	C	T	TRIO	c.157+40373C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14184364C>T	VUS	1 lab	aea1687e73
1:161203024 NR1I3 G>A	1	161203024	161203024	G	A	NR1I3	c.343C>T	NM_005122.5	NP_005113.1:p.(Arg115Trp)	NC_000001.10:g.161203024G>A	VUS	1 lab	ae8700e48f
6:29910378 HLA-A C>T	6	29910378	29910378	C	T	HLA-A	c.48C>T	NM_002116.8	NP_002107.3:p.(Ala16=)	NC_000006.11:g.29910378C>T	(Likely) benign	1 lab	28963b8e55
13:25671272 PABPC3 AG>A	13	25671272	25671273	AG	A	PABPC3	c.937del	NM_030979.3	NP_112241.2:p.(Ala313ArgfsTer14)	NC_000013.10:g.25671273del	(Likely) benign	1 lab	ae88d51ce3
2:169103796 STK39 CGCCGGGGCCGGG>C	2	169103796	169103824	CGCCGGGGCCGGG	C	STK39	c.138_149del	NM_013233.3	NP_037365.2:p.(Pro47_Ala50del)	NC_000002.11:g.169103813_169103824del	VUS	1 lab	ae899bd04e
1:226044442 TMEM63A G>A	1	226044442	226044442	G	A	TMEM63A	c.1485-3C>T	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226044442G>A	VUS	1 lab	ae89d0cb76
2:55522725 CCDC88A G>GT	2	55522725	55522726	G	GT	CCDC88A	c.5551+7dup	NM_001365480.1	NP_001352409.1:p.?	NC_000002.11:g.55522726dup	(Likely) benign	1 lab	ae8ca05144
X:130409129 IGSF1 G>A	X	130409129	130409129	G	A	IGSF1	c.3316C>T	NM_001555.5	NP_001546.2:p.(Pro1106Ser)	NC_000023.10:g.130409129G>A	(Likely) benign	1 lab	ae8fb4ca73
16:89603235 SPG7 G>A	16	89603235	89603235	G	A	SPG7	c.1324+4191G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89603235G>A	(Likely) benign	1 lab	ae9025b8e2
14:77493955 IRF2BPL G>A	14	77493955	77493955	G	A	IRF2BPL	c.181C>T	NM_024496.4	NP_078772.1:p.(His61Tyr)	NC_000014.8:g.77493955G>A	VUS	1 lab	ae90ad3f24
19:9764236 ZNF562 C>T	19	9764236	9764236	C	T	ZNF562	c.670G>A	NM_001130031.2	NP_001123503.1:p.(Gly224Arg)	NC_000019.9:g.9764236C>T	VUS	1 lab	ae90d3cc5f
21:47860056 PCNT C>T	21	47860056	47860056	C	T	PCNT	c.9334C>T	NM_006031.6	NP_006022.3:p.(Pro3112Ser)	NC_000021.8:g.47860056C>T	(Likely) benign	1 lab	ae92c7d3fc
16:2230812 CASKIN1 G>A	16	2230812	2230812	G	A	CASKIN1	c.2557C>T	NM_020764.4	NP_065815.1:p.(Pro853Ser)	NC_000016.9:g.2230812G>A	(Likely) benign	1 lab	ae94350634
18:19761493 GATA6 G>T	18	19761493	19761493	G	T	GATA6	c.1382G>T	NM_005257.6	NP_005248.2:p.(Gly461Val)	NC_000018.9:g.19761493G>T	VUS	1 lab	ae94cb404b
1:61553815 NFIA T>G	1	61553815	61553815	T	G	NFIA	c.28-6T>G	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61553815T>G	(Likely) benign	1 lab	ae94e9c032
6:32551874 HLA-DRB1 G>C	6	32551874	32551874	G	C	HLA-DRB1	c.370+12C>G	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32551874G>C	(Likely) benign	1 lab	2897003528
6:117243327 RFX6 G>A	6	117243327	117243327	G	A	RFX6	c.1437+13G>A	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243327G>A	(Likely) benign	1 lab	ae958c3c8d
4:38016356 TBC1D1 A>C	4	38016356	38016356	A	C	TBC1D1	c.644A>C	NM_001396959.1	NP_001383888.1:p.(Asn215Thr)	NC_000004.11:g.38016356A>C	(Likely) benign	1 lab	ae969fd5b0
19:35250448 ZNF599 C>A	19	35250448	35250448	C	A	ZNF599	c.1258G>T	NM_001007248.3	NP_001007249.1:p.(Glu420Ter)	NC_000019.9:g.35250448C>A	(Likely) benign	1 lab	ae97a5dd3a
1:110125102 GNAI3 C>G	1	110125102	110125102	C	G	GNAI3	c.505C>G	NM_006496.4	NP_006487.1:p.(Pro169Ala)	NC_000001.10:g.110125102C>G	VUS	1 lab	ae9809b858
18:21121035 NPC1 A>C	18	21121035	21121035	A	C	NPC1	c.2511T>G	NM_000271.5	NP_000262.2:p.(Ile837Met)	NC_000018.9:g.21121035A>C	VUS	1 lab	ae983e28f6
18:24128190 KCTD1 G>C	18	24128190	24128190	G	C	KCTD1	c.311C>G	NM_001142730.3	NP_001136202.1:p.(Pro104Arg)	NC_000018.9:g.24128190G>C	(Likely) benign	1 lab	ae99eee081
12:110028599 MVK T>C	12	110028599	110028599	T	C	MVK	c.701T>C	NM_000431.2	NP_000422.1:p.(Leu234Pro)	NC_000012.11:g.110028599T>C	(Likely) pathogenic	1 lab	2a6366f337
8:144999746 PLEC C>T	8	144999746	144999746	C	T	PLEC	c.4351G>A	NM_201384.3	NP_958786.1:p.(Glu1451Lys)	NC_000008.10:g.144999746C>T	(Likely) benign	1 lab	ae9b564eb3
13:39588557 PROSER1 G>GTGT	13	39588557	39588562	G	GTGT	PROSER1	c.829_831dup	NM_025138.5	NP_079414.3:p.(Thr277dup)	NC_000013.10:g.39588560_39588562dup	VUS	1 lab	ae9bc4f913
16:1818820 MAPK8IP3 G>T	16	1818820	1818820	G	T	MAPK8IP3	c.4009G>T	NM_001318852.2	NP_001305781.1:p.(Glu1337Ter)	NC_000016.9:g.1818820G>T	VUS	1 lab	ae9be4c2fc
4:103528926 NFKB1 C>T	4	103528926	103528926	C	T	NFKB1	c.2227+18C>T	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103528926C>T	(Likely) benign	1 lab	2a660e63e0
18:19756918 GATA6 C>T	18	19756918	19756918	C	T	GATA6	c.1138C>T	NM_005257.6	NP_005248.2:p.(Leu380=)	NC_000018.9:g.19756918C>T	(Likely) benign	1 lab	ae9dd23f33
4:1230733 CTBP1 G>A	4	1230733	1230733	G	A	CTBP1	c.162+1238C>T	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1230733G>A	(Likely) benign	1 lab	ae9df94aa1
15:48426650 SLC24A5 G>A	15	48426650	48426650	G	A	SLC24A5	c.404G>A	NM_205850.3	NP_995322.1:p.(Gly135Glu)	NC_000015.9:g.48426650G>A	VUS	1 lab	ae9e040427
18:59752456 PIGN T>C	18	59752456	59752456	T	C	PIGN	c.2412A>G	NM_176787.5	NP_789744.1:p.(Ile804Met)	NC_000018.9:g.59752456T>C	(Likely) benign	1 lab	ae9e518e4c
12:133304752 ANKLE2 A>AG	12	133304752	133304753	A	AG	ANKLE2	c.2484-4dup	NM_015114.3	NP_055929.1:p.?	NC_000012.11:g.133304753dup	(Likely) benign	1 lab	aea10dc973
12:31244692 DDX11 A>G	12	31244692	31244692	A	G	DDX11	c.1129A>G	NM_030653.4	NP_085911.2:p.(Thr377Ala)	NC_000012.11:g.31244692A>G	VUS	1 lab	aea4dfd8e7
10:81372166 SFTPA1 C>G	10	81372166	81372166	C	G	SFTPA1	c.271C>G	NM_005411.5	NP_005402.3:p.(Pro91Ala)	NC_000010.10:g.81372166C>G	(Likely) benign	1 lab	aea5cbb94c
4:5642513 EVC2 T>C	4	5642513	5642513	T	C	EVC2	c.1198A>G	NM_147127.5	NP_667338.3:p.(Thr400Ala)	NC_000004.11:g.5642513T>C	(Likely) benign	1 lab	aea9e3eafc
6:152686107 SYNE1 T>C	6	152686107	152686107	T	C	SYNE1	c.10020A>G	NM_182961.4	NP_892006.3:p.(Ile3340Met)	NC_000006.11:g.152686107T>C	VUS	1 lab	aeab409957
16:3819111 CREBBP G>A	16	3819111	3819111	G	A	CREBBP	c.3060+64C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3819111G>A	(Likely) benign	1 lab	aeab7da5aa
4:167012480 TLL1 T>C	4	167012480	167012480	T	C	TLL1	c.2643T>C	NM_012464.5	NP_036596.3:p.(Ala881=)	NC_000004.11:g.167012480T>C	(Likely) benign	1 lab	28a434d5ab
4:5750031 EVC C>T	4	5750031	5750031	C	T	EVC	c.1096C>T	NM_153717.3	NP_714928.1:p.(Leu366=)	NC_000004.11:g.5750031C>T	(Likely) benign	1 lab	aeaf7b74aa
17:41720947 MEOX1 C>T	17	41720947	41720947	C	T	MEOX1	c.551G>A	NM_004527.4	NP_004518.1:p.(Arg184Gln)	NC_000017.10:g.41720947C>T	VUS	1 lab	aeaff9035d
1:2234548 SKI G>A	1	2234548	2234548	G	A	SKI	c.1095+6G>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2234548G>A	(Likely) benign	1 lab	aeb088aa14
11:6589683 DNHD1 G>A	11	6589683	6589683	G	A	DNHD1	c.12539-1G>A	NM_144666.3	NP_653267.2:p.?	NC_000011.9:g.6589683G>A	VUS	1 lab	aeb365840e
6:43111325 PTK7 G>A	6	43111325	43111325	G	A	PTK7	c.2218G>A	NM_002821.5	NP_002812.2:p.(Glu740Lys)	NC_000006.11:g.43111325G>A	(Likely) benign	1 lab	aeb4f2ed9d
11:71726122 NUMA1 T>A	11	71726122	71726122	T	A	NUMA1	c.2427A>T	NM_006185.4	NP_006176.2:p.(Glu809Asp)	NC_000011.9:g.71726122T>A	(Likely) benign	1 lab	aeb5b8a3dc
9:73477909 TRPM3 G>A	9	73477909	73477909	G	A	TRPM3	c.377C>T	NM_001366145.2	NP_001353074.1:p.(Ser126Phe)	NC_000009.11:g.73477909G>A	VUS	1 lab	aeb7fc7073
16:1248746 CACNA1H C>T	16	1248746	1248746	C	T	CACNA1H	c.775C>T	NM_021098.3	NP_066921.2:p.(Arg259Cys)	NC_000016.9:g.1248746C>T	VUS	1 lab	aeb84c4522
2:241534537 CAPN10 C>T	2	241534537	241534537	C	T	CAPN10	c.1094C>T	NM_023083.4	NP_075571.2:p.(Pro365Leu)	NC_000002.11:g.241534537C>T	VUS	1 lab	aeb84f2c5e
17:27044262 RAB34 CG>C	17	27044262	27044263	CG	C	RAB34	c.22del	NM_031934.6	NP_114140.4:p.(Arg8GlyfsTer13)	NC_000017.10:g.27044263del	(Likely) pathogenic	1 lab	28a992e042
17:39262104 KRTAP4-9 G>A	17	39262104	39262104	G	A	KRTAP4-9	c.464G>A	NM_001146041.1	NP_001139513.1:p.(Ser155Asn)	NC_000017.10:g.39262104G>A	(Likely) benign	1 lab	aeba42379c
2:131988405 POTEE A>G	2	131988405	131988405	A	G	POTEE	c.1056-4A>G	NM_001083538.3	NP_001077007.1:p.?	NC_000002.11:g.131988405A>G	(Likely) benign	1 lab	aebaae8659
1:180241006 LHX4 C>G	1	180241006	180241006	C	G	LHX4	c.643C>G	NM_033343.4	NP_203129.1:p.(Leu215Val)	NC_000001.10:g.180241006C>G	VUS	1 lab	aebb045152
1:45973111 MMACHC G>A	1	45973111	45973111	G	A	MMACHC	c.165G>A	NM_015506.3	NP_056321.2:p.(Thr55=)	NC_000001.10:g.45973111G>A	(Likely) benign	1 lab	aebb153434
2:80101215 CTNNA2 C>T	2	80101215	80101215	C	T	CTNNA2	c.599C>T	NM_001282597.3	NP_001269526.1:p.(Pro200Leu)	NC_000002.11:g.80101215C>T	VUS	1 lab	aebbedf0c1
20:40118572 CHD6 T>C	20	40118572	40118572	T	C	CHD6	c.1526A>G	NM_032221.5	NP_115597.3:p.(His509Arg)	NC_000020.10:g.40118572T>C	VUS	1 lab	aebc58ac9e
2:27670782 IFT172 T>C	2	27670782	27670782	T	C	IFT172	c.4436A>G	NM_015662.3	NP_056477.1:p.(Asn1479Ser)	NC_000002.11:g.27670782T>C	VUS	1 lab	aebcd079f5
8:68140356 ARFGEF1 G>A	8	68140356	68140356	G	A	ARFGEF1	c.3433C>T	NM_006421.5	NP_006412.2:p.(Arg1145Cys)	NC_000008.10:g.68140356G>A	VUS	1 lab	aebf9e338c
12:56712174 PAN2 G>A	12	56712174	56712174	G	A	PAN2	c.3409C>T	NM_014871.6	NP_055686.4:p.(Arg1137Cys)	NC_000012.11:g.56712174G>A	VUS	1 lab	aec190e299
4:73990963 ANKRD17 T>C	4	73990963	73990963	T	C	ANKRD17	c.3301A>G	NM_032217.5	NP_115593.3:p.(Thr1101Ala)	NC_000004.11:g.73990963T>C	VUS	1 lab	aec2b5692e
21:38862599 DYRK1A C>T	21	38862599	38862599	C	T	DYRK1A	c.760C>T	NM_001347721.2	NP_001334650.1:p.(Arg254Ter)	NC_000021.8:g.38862599C>T	VUS	1 lab	aec2c5ab4e
6:157100116 ARID1B A>AGGC	6	157100116	157100134	A	AGGC	ARID1B	c.1318_1320dup	NM_001374828.1	NP_001361757.1:p.(Gly440dup)	NC_000006.11:g.157100132_157100134dup	VUS	1 lab	aec2d6f3ba
3:151082777 MED12L T>C	3	151082777	151082777	T	C	MED12L	c.2968T>C	NM_001393769.1	NP_001380698.1:p.(Ser990Pro)	NC_000003.11:g.151082777T>C	VUS	1 lab	aec2e9a11b
2:179527514 TTN T>A	2	179527514	179527514	T	A	TTN	c.36816A>T	NM_001267550.2	NP_001254479.2:p.(Val12272=)	NC_000002.11:g.179527514T>A	(Likely) benign	1 lab	aec79e77ae
18:19024347 GREB1L C>T	18	19024347	19024347	C	T	GREB1L	c.1370C>T	NM_001142966.3	NP_001136438.1:p.(Thr457Met)	NC_000018.9:g.19024347C>T	VUS	1 lab	aec8946711
20:44640872 MMP9 GC>G	20	44640872	44640874	GC	G	MMP9	c.1096del	NM_004994.3	NP_004985.2:p.(Arg366AlafsTer44)	NC_000020.10:g.44640874del	VUS	1 lab	aec89af665
X:133941746 PABIR3 G>C	X	133941746	133941746	G	C	PABIR3	c.110+8G>C	NM_001388447.1	NP_001375376.1:p.?	NC_000023.10:g.133941746G>C	(Likely) benign	1 lab	aec8ac4288
2:28796123 PLB1 A>G	2	28796123	28796123	A	G	PLB1	c.1384A>G	NM_153021.5	NP_694566.4:p.(Thr462Ala)	NC_000002.11:g.28796123A>G	VUS	1 lab	aecd8643e5
X:40551976 MED14 G>A	X	40551976	40551976	G	A	MED14	c.1829C>T	NM_004229.4	NP_004220.2:p.(Thr610Ile)	NC_000023.10:g.40551976G>A	VUS	1 lab	aecf8c5a7f
5:176637478 NSD1 A>G	5	176637478	176637478	A	G	NSD1	c.2078A>G	NM_022455.5	NP_071900.2:p.(Asn693Ser)	NC_000005.9:g.176637478A>G	(Likely) benign	1 lab	aed149a4db
2:44059086 ABCG5 C>T	2	44059086	44059086	C	T	ABCG5	c.402G>A	NM_022436.3	NP_071881.1:p.(Gln134=)	NC_000002.11:g.44059086C>T	VUS	1 lab	28a9fe5cb8
19:51022332 LRRC4B T>C	19	51022332	51022332	T	C	LRRC4B	c.638A>G	NM_001080457.2	NP_001073926.1:p.(Asn213Ser)	NC_000019.9:g.51022332T>C	VUS	1 lab	aed250bf38
1:228563793 OBSCN T>G	1	228563793	228563793	T	G	OBSCN	c.25742T>G	NM_001386125.1	NP_001373054.1:p.(Phe8581Cys)	NC_000001.10:g.228563793T>G	VUS	1 lab	aed34606a2
1:75038492 ERICH3 C>T	1	75038492	75038492	C	T	ERICH3	c.2902G>A	NM_001002912.5	NP_001002912.4:p.(Asp968Asn)	NC_000001.10:g.75038492C>T	(Likely) benign	1 lab	aed41cfb77
12:107154994 RFX4 C>A	12	107154994	107154994	C	A	RFX4	c.1955C>A	NM_213594.3	NP_998759.1:p.(Thr652Asn)	NC_000012.11:g.107154994C>A	VUS	1 lab	aed5244b36
4:3533953 LRPAP1 A>C	4	3533953	3533953	A	C	LRPAP1	c.187T>G	NM_002337.4	NP_002328.1:p.(Trp63Gly)	NC_000004.11:g.3533953A>C	VUS	1 lab	aed5688ccb
17:2585071 PAFAH1B1 C>A	17	2585071	2585071	C	A	PAFAH1B1	c.1208C>A	NM_000430.4	NP_000421.1:p.(Thr403Lys)	NC_000017.10:g.2585071C>A	(Likely) benign	1 lab	aed6ee3bc9
2:203933118 NBEAL1 G>A	2	203933118	203933118	G	A	NBEAL1	c.518G>A	NM_001378026.1	NP_001364955.1:p.(Arg173Gln)	NC_000002.11:g.203933118G>A	(Likely) benign	1 lab	aed7c7c737
X:153296671 MECP2 G>A	X	153296671	153296671	G	A	MECP2	c.644C>T	NM_001110792.2	NP_001104262.1:p.(Thr215Met)	NC_000023.10:g.153296671G>A	VUS	1 lab	aed98ab8b2
X:64141755 ZC4H2 A>G	X	64141755	64141755	A	G	ZC4H2	c.167T>C	NM_018684.4	NP_061154.1:p.(Leu56Pro)	NC_000023.10:g.64141755A>G	(Likely) pathogenic	1 lab	aeda610deb
X:128977654 ZDHHC9 G>GC	X	128977654	128977659	G	GC	ZDHHC9	c.-204+17dup	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128977659dup	(Likely) benign	1 lab	2a6a6b2d6d
22:51160499 SHANK3 C>T	22	51160499	51160499	C	T	SHANK3	c.4463C>T	NM_001372044.2	NP_001358973.1:p.(Pro1488Leu)	NC_000022.10:g.51160499C>T	VUS	1 lab	aeefbaa8b5
18:31323027 ASXL3 C>T	18	31323027	31323027	C	T	ASXL3	c.3215C>T	NM_030632.3	NP_085135.1:p.(Ala1072Val)	NC_000018.9:g.31323027C>T	VUS	1 lab	28aaf00a66
3:39452409 RPSA T>A	3	39452409	39452409	T	A	RPSA	c.417T>A	NM_002295.6	NP_002286.2:p.(Tyr139Ter)	NC_000003.11:g.39452409T>A	(Likely) pathogenic	1 lab	aee441909c
X:91132792 PCDH11X G>T	X	91132792	91132792	G	T	PCDH11X	c.1553G>T	NM_032968.5	NP_116750.1:p.(Arg518Leu)	NC_000023.10:g.91132792G>T	VUS	1 lab	aee4700e34
4:17493892 QDPR C>T	4	17493892	17493892	C	T	QDPR	c.508G>A	NM_000320.3	NP_000311.2:p.(Gly170Ser)	NC_000004.11:g.17493892C>T	(Likely) pathogenic	1 lab	aee59991c1
11:2182082 INS G>C	11	2182082	2182082	G	C	INS	c.120C>G	NM_000207.3	NP_000198.1:p.(Tyr40Ter)	NC_000011.9:g.2182082G>C	(Likely) pathogenic	1 lab	aee5dacc98
7:117368299 CTTNBP2 G>C	7	117368299	117368299	G	C	CTTNBP2	c.3899C>G	NM_033427.3	NP_219499.1:p.(Pro1300Arg)	NC_000007.13:g.117368299G>C	VUS	1 lab	aee954e0bf
11:89184961 NOX4 A>G	11	89184961	89184961	A	G	NOX4	c.256T>C	NM_016931.5	NP_058627.2:p.(Ser86Pro)	NC_000011.9:g.89184961A>G	(Likely) benign	1 lab	aeea3210f5
15:89391219 ACAN G>A	15	89391219	89391219	G	A	ACAN	c.1682G>A	NM_001369268.1	NP_001356197.1:p.(Arg561His)	NC_000015.9:g.89391219G>A	VUS	1 lab	aeebd96d02
15:77310726 PSTPIP1 T>G	15	77310726	77310726	T	G	PSTPIP1	c.138-72T>G	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77310726T>G	(Likely) benign	1 lab	336dcea7ed
5:122425849 PRDM6 C>G	5	122425849	122425849	C	G	PRDM6	c.140C>G	NM_001136239.4	NP_001129711.1:p.(Pro47Arg)	NC_000005.9:g.122425849C>G	(Likely) benign	1 lab	aeee86a028
X:49192710 GAGE13 G>C	X	49192710	49192710	G	C	GAGE13	c.223G>C	NM_001098412.4	NP_001091882.2:p.(Asp75His)	NC_000023.10:g.49192710G>C	(Likely) benign	1 lab	aeeee33788
X:65253370 VSIG4 G>A	X	65253370	65253370	G	A	VSIG4	c.358C>T	NM_007268.3	NP_009199.1:p.(Pro120Ser)	NC_000023.10:g.65253370G>A	VUS	1 lab	aeeefb7d3d
5:58284410 PDE4D T>C	5	58284410	58284410	T	C	PDE4D	c.1462A>G	NM_001104631.2	NP_001098101.1:p.(Thr488Ala)	NC_000005.9:g.58284410T>C	VUS	1 lab	aef406b255
11:6651656 DCHS1 T>C	11	6651656	6651656	T	C	DCHS1	c.4369A>G	NM_003737.4	NP_003728.1:p.(Thr1457Ala)	NC_000011.9:g.6651656T>C	(Likely) benign	1 lab	aef512b8fa
20:44643033 MMP9 TG>T	20	44643033	44643035	TG	T	MMP9	c.1927del	NM_004994.3	NP_004985.2:p.(Asp643IlefsTer40)	NC_000020.10:g.44643035del	VUS	1 lab	aef591fd34
2:121742123 GLI2 C>T	2	121742123	121742123	C	T	GLI2	c.1709C>T	NM_001374353.1	NP_001361282.1:p.(Thr570Met)	NC_000002.11:g.121742123C>T	VUS	1 lab	aef59cb1f5
12:80191123 PPP1R12A C>T	12	80191123	80191123	C	T	PPP1R12A	c.2144G>A	NM_002480.3	NP_002471.1:p.(Arg715His)	NC_000012.11:g.80191123C>T	VUS	1 lab	aef7bc0d5a
X:27765386 DCAF8L2 GGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGA>G	X	27765386	27765437	GGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGGA	G	DCAF8L2	c.387_425del	NM_001353450.2	NP_001340379.1:p.(Glu135_Glu147del)	NC_000023.10:g.27765399_27765437del	VUS	1 lab	aef8a65294
16:67862294 CENPT C>G	16	67862294	67862294	C	G	CENPT	c.1563-1G>C	NM_025082.4	NP_079358.3:p.?	NC_000016.9:g.67862294C>G	VUS	1 lab	aef8a9eece
22:51143267 SHANK3 C>T	22	51143267	51143267	C	T	SHANK3	c.2098C>T	NM_001372044.2	NP_001358973.1:p.(Arg700Cys)	NC_000022.10:g.51143267C>T	(Likely) benign	1 lab	aefa5e9a1f
1:240286627 FMN2 G>A	1	240286627	240286627	G	A	FMN2	c.1764G>A	NM_001305424.2	NP_001292353.1:p.(Thr588=)	NC_000001.10:g.240286627G>A	(Likely) benign	1 lab	28acbcbf7d
20:9402082 PLCB4 A>G	20	9402082	9402082	A	G	PLCB4	c.2293A>G	NM_001377142.1	NP_001364071.1:p.(Asn765Asp)	NC_000020.10:g.9402082A>G	VUS	1 lab	aefca9e2d2
1:87549872 HS2ST1 T>C	1	87549872	87549872	T	C	HS2ST1	c.364-5T>C	NM_012262.4	NP_036394.1:p.?	NC_000001.10:g.87549872T>C	(Likely) benign	1 lab	aeff077d7d
19:4511524 PLIN4 C>T	19	4511524	4511524	C	T	PLIN4	c.2448G>A	NM_001367868.2	NP_001354797.1:p.(Met816Ile)	NC_000019.9:g.4511524C>T	VUS	1 lab	af0094884f
8:10467586 RP1L1 GT>G	8	10467586	10467589	GT	G	RP1L1	c.4021del	NM_178857.6	NP_849188.4:p.(Thr1341LeufsTer16)	NC_000008.10:g.10467589del	(Likely) benign	1 lab	af01712fc8
19:50384677 TBC1D17 C>T	19	50384677	50384677	C	T	TBC1D17	c.472C>T	NM_024682.3	NP_078958.2:p.(Arg158Cys)	NC_000019.9:g.50384677C>T	VUS	1 lab	af01a93fd5
1:206628485 MISSING C>G	1	206628485	206628485	C	G	MISSING				NC_000001.10:g.206628485C>G	(Likely) benign	1 lab	2a8245f14c
2:38795554 HNRNPLL A>G	2	38795554	38795554	A	G	HNRNPLL	c.1448T>C	NM_138394.4	NP_612403.2:p.(Ile483Thr)	NC_000002.11:g.38795554A>G	VUS	1 lab	af021ffedc
6:29910533 HLA-A G>A	6	29910533	29910533	G	A	HLA-A	c.74-1G>A	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910533G>A	VUS	1 lab	af0223eb91
19:34919398 UBA2 C>G	19	34919398	34919398	C	G	UBA2	c.61C>G	NM_005499.3	NP_005490.1:p.(Leu21Val)	NC_000019.9:g.34919398C>G	(Likely) benign	1 lab	af029a12b5
9:90588985 CDK20 C>A	9	90588985	90588985	C	A	CDK20	c.76-35G>T	NM_001039803.3	NP_001034892.1:p.?	NC_000009.11:g.90588985C>A	(Likely) benign	1 lab	af02d8ba5d
17:43473917 ARHGAP27 A>G	17	43473917	43473917	A	G	ARHGAP27	c.2109T>C	NM_001282290.2	NP_001269219.1:p.(Cys703=)	NC_000017.10:g.43473917A>G	(Likely) benign	1 lab	af02e2ed00
4:153573819 TMEM154 C>G	4	153573819	153573819	C	G	TMEM154	c.325G>C	NM_152680.3	NP_689893.1:p.(Glu109Gln)	NC_000004.11:g.153573819C>G	VUS	1 lab	af031dede7
4:3215837 HTT C>G	4	3215837	3215837	C	G	HTT	c.6927C>G	NM_001388492.1	NP_001375421.1:p.(Tyr2309Ter)	NC_000004.11:g.3215837C>G	VUS	1 lab	af06d5521e
12:102813362 IGF1 GC>G	12	102813362	102813363	GC	G	IGF1	c.326del	NM_000618.5	NP_000609.1:p.(Cys109SerfsTer30)	NC_000012.11:g.102813363del	(Likely) pathogenic	1 lab	af076a6492
6:108029074 SCML4 T>C	6	108029074	108029074	T	C	SCML4	c.1115A>G	NM_198081.5	NP_932347.2:p.(Lys372Arg)	NC_000006.11:g.108029074T>C	(Likely) benign	1 lab	af07dc2b86
1:197059134 ASPM G>C	1	197059134	197059134	G	C	ASPM	c.9910C>G	NM_018136.5	NP_060606.3:p.(Arg3304Gly)	NC_000001.10:g.197059134G>C	VUS	1 lab	af0a6403d3
16:2026325 TBL3 C>T	16	2026325	2026325	C	T	TBL3	c.1292+10C>T	NM_006453.3	NP_006444.2:p.?	NC_000016.9:g.2026325C>T	(Likely) benign	1 lab	af0abd37ba
15:41100586 ZFYVE19 G>A	15	41100586	41100586	G	A	ZFYVE19	c.279+520G>A	NM_001077268.2	NP_001070736.1:p.?	NC_000015.9:g.41100586G>A	VUS	1 lab	af0acdf5dc
7:44192990 GCK CCTT>C	7	44192990	44192995	CCTT	C	GCK	c.115_117del	NM_000162.5	NP_000153.1:p.(Lys39del)	NC_000007.13:g.44192993_44192995del	VUS	1 lab	af0beced3f
8:144991994 PLEC C>T	8	144991994	144991994	C	T	PLEC	c.11995G>A	NM_201384.3	NP_958786.1:p.(Glu3999Lys)	NC_000008.10:g.144991994C>T	VUS	1 lab	af0dea051a
15:52611482 MYO5A C>A	15	52611482	52611482	C	A	MYO5A	c.5009G>T	NM_001382347.1	NP_001369276.1:p.(Gly1670Val)	NC_000015.9:g.52611482C>A	VUS	1 lab	af0e152325
1:233297076 PCNX2 C>T	1	233297076	233297076	C	T	PCNX2	c.3307G>A	NM_014801.4	NP_055616.3:p.(Ala1103Thr)	NC_000001.10:g.233297076C>T	(Likely) benign	1 lab	af0f7e3a4b
22:41545151 EP300 C>T	22	41545151	41545151	C	T	EP300	c.2351C>T	NM_001429.4	NP_001420.2:p.(Pro784Leu)	NC_000022.10:g.41545151C>T	(Likely) benign	1 lab	af1131640b
20:58496438 SYCP2 A>G	20	58496438	58496438	A	G	SYCP2	c.95T>C	NM_014258.4	NP_055073.2:p.(Ile32Thr)	NC_000020.10:g.58496438A>G	(Likely) benign	1 lab	af12f30d9a
20:44520375 CTSA C>T	20	44520375	44520375	C	T	CTSA	c.168C>T	NM_000308.4	NP_000299.3:p.(Gly56=)	NC_000020.10:g.44520375C>T	VUS	1 lab	af1361e44d
9:119033622 PAPPA C>A	9	119033622	119033622	C	A	PAPPA	c.2880C>A	NM_002581.5	NP_002572.2:p.(Cys960Ter)	NC_000009.11:g.119033622C>A	VUS	1 lab	af139938d2
11:103091394 DYNC2H1 C>G	11	103091394	103091394	C	G	DYNC2H1	c.8989C>G	NM_001377.3	NP_001368.2:p.(Pro2997Ala)	NC_000011.9:g.103091394C>G	VUS	1 lab	af1568ac76
8:100654053 VPS13B A>C	8	100654053	100654053	A	C	VPS13B	c.5235A>C	NM_152564.5	NP_689777.3:p.(Glu1745Asp)	NC_000008.10:g.100654053A>C	VUS	1 lab	af17390b56
X:54957221 TRO C>T	X	54957221	54957221	C	T	TRO	c.4064C>T	NM_001039705.3	NP_001034794.1:p.(Thr1355Met)	NC_000023.10:g.54957221C>T	VUS	1 lab	af17c448f3
1:52851608 ORC1 G>A	1	52851608	52851608	G	A	ORC1	c.1397C>T	NM_004153.4	NP_004144.2:p.(Thr466Met)	NC_000001.10:g.52851608G>A	(Likely) benign	1 lab	af1805e1a3
13:100635031 ZIC2 A>C	13	100635031	100635031	A	C	ZIC2	c.713A>C	NM_007129.5	NP_009060.2:p.(His238Pro)	NC_000013.10:g.100635031A>C	VUS	1 lab	af18a477cf
10:124755648 IKZF5 C>G	10	124755648	124755648	C	G	IKZF5	c.178G>C	NM_001372123.1	NP_001359052.1:p.(Glu60Gln)	NC_000010.10:g.124755648C>G	VUS	1 lab	af1a135f9b
20:10627629 JAG1 A>C	20	10627629	10627629	A	C	JAG1	c.1843T>G	NM_000214.3	NP_000205.1:p.(Cys615Gly)	NC_000020.10:g.10627629A>C	(Likely) pathogenic	1 lab	af1b9b8a3f
15:99251091 IGF1R A>G	15	99251091	99251091	A	G	IGF1R	c.395A>G	NM_000875.5	NP_000866.1:p.(Asn132Ser)	NC_000015.9:g.99251091A>G	VUS	1 lab	af1ead1ba4
X:18183145 BEND2 G>A	X	18183145	18183145	G	A	BEND2	c.2384C>T	NM_153346.5	NP_699177.2:p.(Thr795Ile)	NC_000023.10:g.18183145G>A	(Likely) benign	1 lab	af1f394b5d
12:11214232 TAS2R46 A>G	12	11214232	11214232	A	G	TAS2R46	c.662T>C	NM_176887.2	NP_795368.2:p.(Met221Thr)	NC_000012.11:g.11214232A>G	(Likely) benign	1 lab	af1fc8b7b0
7:151873302 KMT2C C>T	7	151873302	151873302	C	T	KMT2C	c.9236G>A	NM_170606.3	NP_733751.2:p.(Arg3079Gln)	NC_000007.13:g.151873302C>T	(Likely) benign	1 lab	af20f08e21
2:241664695 KIF1A A>T	2	241664695	241664695	A	T	KIF1A	c.4249T>A	NM_001244008.2	NP_001230937.1:p.(Ser1417Thr)	NC_000002.11:g.241664695A>T	(Likely) benign	1 lab	af21a5dbb9
8:61193687 CA8 A>C	8	61193687	61193687	A	C	CA8	c.20T>G	NM_004056.6	NP_004047.3:p.(Ile7Ser)	NC_000008.10:g.61193687A>C	VUS	1 lab	af21e5946a
19:53855672 ZNF845 A>G	19	53855672	53855672	A	G	ZNF845	c.1744A>G	NM_138374.3	NP_612383.1:p.(Asn582Asp)	NC_000019.9:g.53855672A>G	(Likely) benign	1 lab	af2550d858
2:152502666 NEB G>T	2	152502666	152502666	G	T	NEB	c.7514C>A	NM_001164508.2	NP_001157980.2:p.(Ala2505Glu)	NC_000002.11:g.152502666G>T	VUS	1 lab	af277e96e6
1:21548317 ECE1 T>C	1	21548317	21548317	T	C	ECE1	c.2059A>G	NM_001397.3	NP_001388.1:p.(Lys687Glu)	NC_000001.10:g.21548317T>C	(Likely) benign	1 lab	af292925fd
17:29490357 NF1 A>G	17	29490357	29490357	A	G	NF1	c.442A>G	NM_001042492.3	NP_001035957.1:p.(Asn148Asp)	NC_000017.10:g.29490357A>G	(Likely) benign	1 lab	af29604430
15:90210982 PLIN1 C>T	15	90210982	90210982	C	T	PLIN1	c.814G>A	NM_002666.5	NP_002657.3:p.(Val272Met)	NC_000015.9:g.90210982C>T	(Likely) benign	1 lab	af2a313970
19:11144541 SMARCA4 G>A	19	11144541	11144541	G	A	SMARCA4	c.3873G>A	NM_003072.5	NP_003063.2:p.(Lys1291=)	NC_000019.9:g.11144541G>A	VUS	1 lab	af2af9efc7
1:3643695 TP73 C>G	1	3643695	3643695	C	G	TP73	c.749C>G	NM_005427.4	NP_005418.1:p.(Thr250Ser)	NC_000001.10:g.3643695C>G	(Likely) benign	1 lab	af2b1de9bc
15:42677729 CAPN3 CAGAG>C	15	42677729	42677758	CAGAG	C	CAPN3	c.380-610_380-607del	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42677755_42677758del	(Likely) benign	1 lab	2a70edc8b2
14:51208446 NIN C>A	14	51208446	51208446	C	A	NIN	c.5302G>T	NM_020921.4	NP_065972.4:p.(Val1768Phe)	NC_000014.8:g.51208446C>A	VUS	1 lab	af2c0baad1
X:54978508 PFKFB1 G>A	X	54978508	54978508	G	A	PFKFB1	c.676C>T	NM_002625.4	NP_002616.2:p.(Arg226Cys)	NC_000023.10:g.54978508G>A	(Likely) benign	1 lab	af2ec77165
1:8674654 RERE T>G	1	8674654	8674654	T	G	RERE	c.488A>C	NM_001042681.2	NP_001036146.1:p.(Gln163Pro)	NC_000001.10:g.8674654T>G	VUS	1 lab	af2f5da9dd
16:89831481 FANCA CAG>C	16	89831481	89831487	CAG	C	FANCA	c.2602-9_2602-8del	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89831486_89831487del	VUS	1 lab	af320e53ef
X:107301268 VSIG1 G>A	X	107301268	107301268	G	A	VSIG1	c.50G>A	NM_182607.5	NP_872413.1:p.(Gly17Asp)	NC_000023.10:g.107301268G>A	VUS	1 lab	af32473a48
2:179449267 TTN C>T	2	179449267	179449267	C	T	TTN	c.65011G>A	NM_001267550.2	NP_001254479.2:p.(Val21671Ile)	NC_000002.11:g.179449267C>T	VUS	1 lab	af3328e920
4:114277368 ANK2 G>A	4	114277368	114277368	G	A	ANK2	c.7594G>A	NM_001148.6	NP_001139.3:p.(Gly2532Arg)	NC_000004.11:g.114277368G>A	VUS	1 lab	28af4bf3f4
8:116632297 TRPS1 T>G	8	116632297	116632297	T	G	TRPS1	c.38-10A>C	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116632297T>G	(Likely) benign	1 lab	af33ab3fc7
13:79175844 POU4F1 CATGTTG>C	13	79175844	79175850	CATGTTG	C	POU4F1	c.960_965del	NM_006237.4	NP_006228.3:p.(Asn320_Met322delinsLys)	NC_000013.10:g.79175845_79175850del	VUS	1 lab	af344b4f83
12:56091075 ITGA7 G>A	12	56091075	56091075	G	A	ITGA7	c.1506-14C>T	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56091075G>A	(Likely) benign	1 lab	af345ca796
1:225533748 DNAH14 CA>C	1	225533748	225533750	CA	C	DNAH14	c.10765del	NM_001367479.1	NP_001354408.1:p.(Thr3589GlnfsTer28)	NC_000001.10:g.225533750del	(Likely) benign	1 lab	af352706ba
10:72288975 PALD1 C>T	10	72288975	72288975	C	T	PALD1	c.186-10C>T	NM_014431.3	NP_055246.2:p.?	NC_000010.10:g.72288975C>T	(Likely) benign	1 lab	af358c7aa8
4:79387582 FRAS1 G>A	4	79387582	79387582	G	A	FRAS1	c.7250G>A	NM_025074.7	NP_079350.5:p.(Gly2417Glu)	NC_000004.11:g.79387582G>A	VUS	1 lab	af360ee2f7
1:47134005 ATPAF1 GCCT>G	1	47134005	47134021	GCCT	G	ATPAF1	c.-14_-12del	NM_001394565.1	NP_001381494.1:p.?	NC_000001.10:g.47134019_47134021del	(Likely) benign	1 lab	af365cb13e
2:233345111 ECEL1 G>A	2	233345111	233345111	G	A	ECEL1	c.2226C>T	NM_004826.4	NP_004817.2:p.(Tyr742=)	NC_000002.11:g.233345111G>A	VUS	1 lab	af373f9c77
6:35208953 SCUBE3 C>T	6	35208953	35208953	C	T	SCUBE3	c.1105C>T	NM_152753.4	NP_689966.2:p.(Arg369Cys)	NC_000006.11:g.35208953C>T	VUS	1 lab	af374629a7
11:2797197 KCNQ1 G>A	11	2797197	2797197	G	A	KCNQ1	c.1598G>A	NM_000218.3	NP_000209.2:p.(Arg533Gln)	NC_000011.9:g.2797197G>A	VUS	1 lab	af37973a28
13:26153939 ATP8A2 C>CT	13	26153939	26153941	C	CT	ATP8A2	c.1868-5dup	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26153941dup	(Likely) benign	1 lab	af3826f01b
3:57994401 FLNB T>G	3	57994401	57994401	T	G	FLNB	c.110T>G	NM_001457.4	NP_001448.2:p.(Ile37Ser)	NC_000003.11:g.57994401T>G	VUS	1 lab	af3b4e6b33
22:51117865 SHANK3 G>A	22	51117865	51117865	G	A	SHANK3	c.1110+9G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117865G>A	(Likely) benign	1 lab	af3bd86725
1:1275665 DVL1 G>A	1	1275665	1275665	G	A	DVL1	c.731C>T	NM_001330311.2	NP_001317240.1:p.(Thr244Ile)	NC_000001.10:g.1275665G>A	VUS	1 lab	af3c5831da
11:66272154 DPP3 G>GC	11	66272154	66272160	G	GC	DPP3	c.1956dup	NM_130443.4	NP_569710.2:p.(Glu653ArgfsTer14)	NC_000011.9:g.66272160dup	VUS	1 lab	af3c7dfb66
11:71941028 INPPL1 C>T	11	71941028	71941028	C	T	INPPL1	c.904C>T	NM_001567.4	NP_001558.3:p.(Arg302Cys)	NC_000011.9:g.71941028C>T	VUS	1 lab	af3d8ff72c
10:1118147 WDR37 C>T	10	1118147	1118147	C	T	WDR37	c.52C>T	NM_014023.4	NP_054742.2:p.(Arg18Cys)	NC_000010.10:g.1118147C>T	VUS	1 lab	af3df4710e
13:28644733 FLT3 C>A	13	28644733	28644733	C	A	FLT3	c.60G>T	NM_004119.3	NP_004110.2:p.(Met20Ile)	NC_000013.10:g.28644733C>A	(Likely) benign	1 lab	af3fe7cd97
21:47541018 COL6A2 T>C	21	47541018	47541018	T	C	COL6A2	c.1439T>C	NM_001849.4	NP_001840.3:p.(Leu480Pro)	NC_000021.8:g.47541018T>C	VUS	1 lab	af402c1e75
19:18899076 COMP C>T	19	18899076	18899076	C	T	COMP	c.920G>A	NM_000095.3	NP_000086.2:p.(Gly307Asp)	NC_000019.9:g.18899076C>T	VUS	1 lab	af41ef53e9
5:14498212 TRIO G>A	5	14498212	14498212	G	A	TRIO	c.8062G>A	NM_007118.4	NP_009049.2:p.(Val2688Ile)	NC_000005.9:g.14498212G>A	(Likely) benign	1 lab	af44036b8d
X:129173135 BCORL1 A>G	X	129173135	129173135	A	G	BCORL1	c.4718A>G	NM_001379451.1	NP_001366380.1:p.(Asn1573Ser)	NC_000023.10:g.129173135A>G	VUS	1 lab	af4838b108
1:26135208 SELENON C>T	1	26135208	26135208	C	T	SELENON	c.573C>T	NM_206926.2	NP_996809.1:p.(Pro191=)	NC_000001.10:g.26135208C>T	(Likely) benign	1 lab	af491df31e
14:80327660 NRXN3 TAC>T	14	80327660	80327664	TAC	T	NRXN3	c.4094-22_4094-21del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.80327663_80327664del	VUS	1 lab	af49c849ad
19:42795241 CIC C>T	19	42795241	42795241	C	T	CIC	c.5048C>T	NM_001386298.1	NP_001373227.1:p.(Ala1683Val)	NC_000019.9:g.42795241C>T	VUS	1 lab	af4bd74b5e
7:1520020 INTS1 C>T	7	1520020	1520020	C	T	INTS1	c.4007G>A	NM_001080453.3	NP_001073922.2:p.(Arg1336Gln)	NC_000007.13:g.1520020C>T	(Likely) benign	1 lab	af4c2cfeae
9:135251405 TTF1 C>T	9	135251405	135251405	C	T	TTF1	c.2615G>A	NM_007344.4	NP_031370.2:p.(Ser872Asn)	NC_000009.11:g.135251405C>T	(Likely) benign	1 lab	af4c7a866b
9:140669622 EHMT1 C>A	9	140669622	140669622	C	A	EHMT1	c.1709C>A	NM_024757.5	NP_079033.4:p.(Pro570Gln)	NC_000009.11:g.140669622C>A	VUS	1 lab	af4ed867f2
X:53245065 KDM5C A>G	X	53245065	53245065	A	G	KDM5C	c.875T>C	NM_004187.5	NP_004178.2:p.(Leu292Pro)	NC_000023.10:g.53245065A>G	VUS	1 lab	af4f2e135b
12:52845316 KRT6B G>A	12	52845316	52845316	G	A	KRT6B	c.540+7C>T	NM_005555.4	NP_005546.2:p.?	NC_000012.11:g.52845316G>A	(Likely) benign	1 lab	af4fbc219c
5:149514461 PDGFRB G>A	5	149514461	149514461	G	A	PDGFRB	c.483C>T	NM_002609.4	NP_002600.1:p.(His161=)	NC_000005.9:g.149514461G>A	(Likely) benign	1 lab	af4fe77558
17:73487137 TMEM94 T>C	17	73487137	73487137	T	C	TMEM94	c.1136T>C	NM_014738.6	NP_055553.3:p.(Leu379Pro)	NC_000017.10:g.73487137T>C	VUS	1 lab	af525e4042
17:78317763 RNF213 T>C	17	78317763	78317763	T	C	RNF213	c.6290T>C	NM_001256071.3	NP_001243000.2:p.(Val2097Ala)	NC_000017.10:g.78317763T>C	VUS	1 lab	af544213b1
4:515977 PIGG G>A	4	515977	515977	G	A	PIGG	c.1614+247G>A	NM_001127178.3	NP_001120650.1:p.?	NC_000004.11:g.515977G>A	VUS	1 lab	af552ac1d0
5:149503807 PDGFRB C>T	5	149503807	149503807	C	T	PDGFRB	c.2023+6G>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149503807C>T	(Likely) benign	1 lab	af5677f74c
15:89381953 ACAN G>A	15	89381953	89381953	G	A	ACAN	c.130G>A	NM_001369268.1	NP_001356197.1:p.(Gly44Arg)	NC_000015.9:g.89381953G>A	VUS	1 lab	af571f0b4f
8:117864200 RAD21 T>A	8	117864200	117864200	T	A	RAD21	c.1457A>T	NM_006265.3	NP_006256.1:p.(Glu486Val)	NC_000008.10:g.117864200T>A	VUS	1 lab	af57cec841
9:139404321 NOTCH1 C>A	9	139404321	139404321	C	A	NOTCH1	c.2833G>T	NM_017617.5	NP_060087.3:p.(Asp945Tyr)	NC_000009.11:g.139404321C>A	VUS	1 lab	af5853a015
6:31324736 HLA-B TG>T	6	31324736	31324741	TG	T	HLA-B	c.74-3del	NM_005514.8	NP_005505.2:p.?	NC_000006.11:g.31324741del	VUS	1 lab	af5ad7ab08
16:23646331 PALB2 G>T	16	23646331	23646331	G	T	PALB2	c.1536C>A	NM_024675.4	NP_078951.2:p.(Tyr512Ter)	NC_000016.9:g.23646331G>T	(Likely) pathogenic	1 lab	af5c518d53
20:60926766 LAMA5 G>A	20	60926766	60926766	G	A	LAMA5	c.950C>T	NM_005560.6	NP_005551.3:p.(Pro317Leu)	NC_000020.10:g.60926766G>A	(Likely) benign	1 lab	af5c528266
8:100654196 VPS13B G>A	8	100654196	100654196	G	A	VPS13B	c.5378G>A	NM_152564.5	NP_689777.3:p.(Arg1793His)	NC_000008.10:g.100654196G>A	VUS	1 lab	af5c7d2947
1:231401075 GNPAT G>A	1	231401075	231401075	G	A	GNPAT	c.605G>A	NM_014236.4	NP_055051.1:p.(Arg202Gln)	NC_000001.10:g.231401075G>A	VUS	1 lab	af5f6ca8ac
12:6639984 NCAPD2 G>A	12	6639984	6639984	G	A	NCAPD2	c.3964+1G>A	NM_014865.4	NP_055680.3:p.?	NC_000012.11:g.6639984G>A	VUS	1 lab	af5f87f38f
19:17947943 JAK3 C>G	19	17947943	17947943	C	G	JAK3	c.1781G>C	NM_000215.4	NP_000206.2:p.(Gly594Ala)	NC_000019.9:g.17947943C>G	VUS	1 lab	af5fb3dfb0
10:122665446 WDR11 G>C	10	122665446	122665446	G	C	WDR11	c.3350G>C	NM_018117.12	NP_060587.8:p.(Cys1117Ser)	NC_000010.10:g.122665446G>C	VUS	1 lab	af6022c119
11:17482119 ABCC8 G>A	11	17482119	17482119	G	A	ABCC8	c.927C>T	NM_000352.6	NP_000343.2:p.(Ala309=)	NC_000011.9:g.17482119G>A	(Likely) benign	1 lab	af60be76f0
1:957640 AGRN C>T	1	957640	957640	C	T	AGRN	c.261C>T	NM_198576.4	NP_940978.2:p.(Asp87=)	NC_000001.10:g.957640C>T	(Likely) benign	1 lab	af60f7a89e
9:35800819 NPR2 C>T	9	35800819	35800819	C	T	NPR2	c.1332C>T	NM_003995.4	NP_003986.2:p.(Asp444=)	NC_000009.11:g.35800819C>T	(Likely) benign	1 lab	af613487c5
18:31323549 ASXL3 C>T	18	31323549	31323549	C	T	ASXL3	c.3737C>T	NM_030632.3	NP_085135.1:p.(Ser1246Leu)	NC_000018.9:g.31323549C>T	(Likely) benign	1 lab	af61e3ebbc
2:179641935 TTN AGGGTTG>A	2	179641935	179641946	AGGGTTG	A	TTN	c.4749_4754del	NM_001267550.2	NP_001254479.2:p.(Asn1584_Pro1585del)	NC_000002.11:g.179641941_179641946del	VUS	1 lab	af627a1c47
20:31388080 DNMT3B C>T	20	31388080	31388080	C	T	DNMT3B	c.1881C>T	NM_006892.4	NP_008823.1:p.(Asp627=)	NC_000020.10:g.31388080C>T	(Likely) benign	1 lab	af62feaf3d
8:94794707 TMEM67 A>C	8	94794707	94794707	A	C	TMEM67	c.1131+19A>C	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94794707A>C	(Likely) benign	1 lab	2a725b6a48
17:78184616 SGSH G>A	17	78184616	78184616	G	A	SGSH	c.1144C>T	NM_000199.5	NP_000190.1:p.(Arg382Trp)	NC_000017.10:g.78184616G>A	(Likely) benign	1 lab	af6498c3d9
7:76241031 POMZP3 G>GTCC	7	76241031	76241036	G	GTCC	POMZP3	c.437+5_437+7dup	NM_012230.5	NP_036362.3:p.?	NC_000007.13:g.76241034_76241036dup	(Likely) benign	1 lab	af64d24e31
11:2799251 KCNQ1 A>G	11	2799251	2799251	A	G	KCNQ1	c.1778A>G	NM_000218.3	NP_000209.2:p.(Asn593Ser)	NC_000011.9:g.2799251A>G	VUS	1 lab	af64fc6bc5
13:39263815 FREM2 G>T	13	39263815	39263815	G	T	FREM2	c.2334G>T	NM_207361.6	NP_997244.4:p.(Gln778His)	NC_000013.10:g.39263815G>T	VUS	1 lab	af65659f4c
3:64589766 ADAMTS9 CTGGGTGT>C	3	64589766	64589776	CTGGGTGT	C	ADAMTS9	c.3580-8_3580-2del	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64589770_64589776del	VUS	1 lab	af65dcf92a
8:97321806 PTDSS1 C>T	8	97321806	97321806	C	T	PTDSS1	c.1029C>T	NM_014754.3	NP_055569.1:p.(Thr343=)	NC_000008.10:g.97321806C>T	(Likely) benign	1 lab	af66fac3b3
20:42331332 MYBL2 G>A	20	42331332	42331332	G	A	MYBL2	c.1154G>A	NM_002466.4	NP_002457.1:p.(Ser385Asn)	NC_000020.10:g.42331332G>A	(Likely) benign	1 lab	af6d3722e8
17:73481541 TMEM94 G>A	17	73481541	73481541	G	A	TMEM94	c.57G>A	NM_014738.6	NP_055553.3:p.(Thr19=)	NC_000017.10:g.73481541G>A	(Likely) benign	1 lab	af6da6824e
17:48647096 CACNA1G A>G	17	48647096	48647096	A	G	CACNA1G	c.518A>G	NM_018896.5	NP_061496.2:p.(Asn173Ser)	NC_000017.10:g.48647096A>G	VUS	1 lab	af6fadb11c
12:49658970 TUBA1C G>A	12	49658970	49658970	G	A	TUBA1C	c.3+3G>A	NM_032704.5	NP_116093.1:p.?	NC_000012.11:g.49658970G>A	(Likely) benign	1 lab	af6fba8a2f
10:81049587 ZMIZ1 C>T	10	81049587	81049587	C	T	ZMIZ1	c.481C>T	NM_020338.4	NP_065071.1:p.(Pro161Ser)	NC_000010.10:g.81049587C>T	VUS	1 lab	af6fdc6809
3:78655879 ROBO1 G>C	3	78655879	78655879	G	C	ROBO1	c.4744+4C>G	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78655879G>C	VUS	1 lab	af70f5cd8e
2:88888294 EIF2AK3 A>C	2	88888294	88888294	A	C	EIF2AK3	c.1291T>G	NM_004836.7	NP_004827.4:p.(Trp431Gly)	NC_000002.11:g.88888294A>C	VUS	1 lab	af70f97bc6
17:73501734 CASKIN2 T>TTC	17	73501734	73501735	T	TTC	CASKIN2	c.836-3_836-2insGA	NM_020753.5	NP_065804.2:p.?	NC_000017.10:g.73501734_73501735insTC	VUS	1 lab	af7214cff0
7:6505946 KDELR2 C>T	7	6505946	6505946	C	T	KDELR2	c.360G>A	NM_006854.4	NP_006845.1:p.(Trp120Ter)	NC_000007.13:g.6505946C>T	VUS	1 lab	af7218cff4
15:58357788 ALDH1A2 C>T	15	58357788	58357788	C	T	ALDH1A2	c.61G>A	NM_003888.4	NP_003879.2:p.(Ala21Thr)	NC_000015.9:g.58357788C>T	VUS	1 lab	af72518950
20:62076058 KCNQ2 C>T	20	62076058	62076058	C	T	KCNQ2	c.644G>A	NM_172107.4	NP_742105.1:p.(Gly215Glu)	NC_000020.10:g.62076058C>T	(Likely) pathogenic	1 lab	af7368e254
16:2141484 PKD1 G>A	16	2141484	2141484	G	A	PKD1	c.11652C>T	NM_001009944.3	NP_001009944.3:p.(Ser3884=)	NC_000016.9:g.2141484G>A	(Likely) benign	1 lab	af74c35076
5:122720648 CEP120 T>A	5	122720648	122720648	T	A	CEP120	c.1760A>T	NM_001375405.1	NP_001362334.1:p.(Gln587Leu)	NC_000005.9:g.122720648T>A	VUS	1 lab	af7572ed5c
X:56291756 KLF8 G>T	X	56291756	56291756	G	T	KLF8	c.225G>T	NM_007250.5	NP_009181.2:p.(Leu75Phe)	NC_000023.10:g.56291756G>T	(Likely) benign	1 lab	af75b79d23
4:4864736 MSX1 C>A	4	4864736	4864736	C	A	MSX1	c.778C>A	NM_002448.3	NP_002439.2:p.(Pro260Thr)	NC_000004.11:g.4864736C>A	(Likely) benign	1 lab	af7620d1a7
6:33133430 COL11A2 G>C	6	33133430	33133430	G	C	COL11A2	c.4646C>G	NM_080680.3	NP_542411.2:p.(Ser1549Cys)	NC_000006.11:g.33133430G>C	VUS	1 lab	af762b10bb
5:149459702 CSF1R A>T	5	149459702	149459702	A	T	CSF1R	c.505T>A	NM_001288705.3	NP_001275634.1:p.(Phe169Ile)	NC_000005.9:g.149459702A>T	(Likely) benign	1 lab	af7649dfa5
4:109084731 LEF1 G>A	4	109084731	109084731	G	A	LEF1	c.407C>T	NM_016269.5	NP_057353.1:p.(Pro136Leu)	NC_000004.11:g.109084731G>A	(Likely) benign	1 lab	af76e1b214
11:5809264 OR52N1 G>C	11	5809264	5809264	G	C	OR52N1	c.783C>G	NM_001001913.2	NP_001001913.1:p.(Phe261Leu)	NC_000011.9:g.5809264G>C	VUS	1 lab	af7701cf6d
10:89473069 PAPSS2 T>TAAAAAAA	10	89473069	89473091	T	TAAAAAAA	PAPSS2	c.381+18_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473085_89473091dup	(Likely) benign	1 lab	af78d46c40
15:28447639 HERC2 G>C	15	28447639	28447639	G	C	HERC2	c.7334C>G	NM_004667.6	NP_004658.3:p.(Pro2445Arg)	NC_000015.9:g.28447639G>C	(Likely) benign	1 lab	af79b7b95e
X:110555890 DCX C>A	X	110555890	110555890	C	A	DCX	c.1021G>T	NM_001195553.2	NP_001182482.1:p.(Gly341Cys)	NC_000023.10:g.110555890C>A	(Likely) pathogenic	1 lab	af79e4824e
6:10410324 TFAP2A G>A	6	10410324	10410324	G	A	TFAP2A	c.296C>T	NM_001372066.1	NP_001358995.1:p.(Pro99Leu)	NC_000006.11:g.10410324G>A	(Likely) benign	1 lab	af7a662c25
9:35809517 NPR2 C>T	9	35809517	35809517	C	T	NPR2	c.*75C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809517C>T	(Likely) benign	1 lab	af7b95d8c3
5:140056484 HARS1 G>T	5	140056484	140056484	G	T	HARS1	c.952-3C>A	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140056484G>T	VUS	1 lab	af7bb75850
7:14775716 DGKB A>C	7	14775716	14775716	A	C	DGKB	c.272T>G	NM_001350709.2	NP_001337638.1:p.(Phe91Cys)	NC_000007.13:g.14775716A>C	(Likely) benign	1 lab	af7c8c53a9
18:42533225 SETBP1 G>A	18	42533225	42533225	G	A	SETBP1	c.3920G>A	NM_015559.3	NP_056374.2:p.(Gly1307Glu)	NC_000018.9:g.42533225G>A	(Likely) benign	1 lab	af7dbc73d7
3:50379110 ZMYND10 A>G	3	50379110	50379110	A	G	ZMYND10	c.1142T>C	NM_015896.4	NP_056980.2:p.(Leu381Pro)	NC_000003.11:g.50379110A>G	VUS	1 lab	af7e62f865
17:74158071 RNF157 C>A	17	74158071	74158071	C	A	RNF157	c.805G>T	NM_052916.3	NP_443148.1:p.(Glu269Ter)	NC_000017.10:g.74158071C>A	VUS	1 lab	af7e75ecdb
11:721345 EPS8L2 A>C	11	721345	721345	A	C	EPS8L2	c.761A>C	NM_022772.4	NP_073609.2:p.(Lys254Thr)	NC_000011.9:g.721345A>C	VUS	1 lab	af7edce287
5:14461283 TRIO G>T	5	14461283	14461283	G	T	TRIO	c.5359G>T	NM_007118.4	NP_009049.2:p.(Gly1787Cys)	NC_000005.9:g.14461283G>T	(Likely) benign	1 lab	af7f9049e7
11:10482976 AMPD3 G>T	11	10482976	10482976	G	T	AMPD3	c.-5-86G>T	NM_001025389.2	NP_001020560.1:p.?	NC_000011.9:g.10482976G>T	(Likely) benign	1 lab	af80bce059
10:89501095 PAPSS2 A>C	10	89501095	89501095	A	C	PAPSS2	c.1190A>C	NM_001015880.2	NP_001015880.1:p.(Glu397Ala)	NC_000010.10:g.89501095A>C	VUS	1 lab	af8287701f
19:38572750 SIPA1L3 A>AGGACGCGGGGGAGCCGCGGG	19	38572750	38572772	A	AGGACGCGGGGGAGCCGCGGG	SIPA1L3	c.548_567dup	NM_015073.3	NP_055888.1:p.(Ala190ThrfsTer40)	NC_000019.9:g.38572753_38572772dup	VUS	1 lab	af82926b3e
22:24808658 SPECC1L G>A	22	24808658	24808658	G	A	SPECC1L	c.3247G>A	NM_015330.6	NP_056145.5:p.(Gly1083Ser)	NC_000022.10:g.24808658G>A	VUS	1 lab	af8347adc4
11:108202655 ATM T>C	11	108202655	108202655	T	C	ATM	c.7679T>C	NM_000051.3	NP_000042.3:p.(Ile2560Thr)	NC_000011.9:g.108202655T>C	VUS	1 lab	2a761fbf42
19:48337737 CRX G>C	19	48337737	48337737	G	C	CRX	c.37G>C	NM_000554.6	NP_000545.1:p.(Val13Leu)	NC_000019.9:g.48337737G>C	(Likely) benign	1 lab	af85220a02
13:52516582 ATP7B G>A	13	52516582	52516582	G	A	ATP7B	c.3352C>T	NM_000053.4	NP_000044.2:p.(Arg1118Cys)	NC_000013.10:g.52516582G>A	VUS	1 lab	af85cead30
22:25007172 GGT1 G>A	22	25007172	25007172	G	A	GGT1	c.124G>A	NM_001288833.2	NP_001275762.1:p.(Ala42Thr)	NC_000022.10:g.25007172G>A	VUS	1 lab	af85e01312
11:71712936 IL18BP A>G	11	71712936	71712936	A	G	IL18BP	c.486A>G	NM_173044.2	NP_766632.2:p.(Gln162=)	NC_000011.9:g.71712936A>G	(Likely) benign	1 lab	32fdc08401
9:36249273 GNE G>A	9	36249273	36249273	G	A	GNE	c.80C>T	NM_005476.7	NP_005467.1:p.(Pro27Leu)	NC_000009.11:g.36249273G>A	(Likely) pathogenic	1 lab	af879e66d8
16:2819172 SRRM2 TTCC>T	16	2819172	2819180	TTCC	T	SRRM2	c.7914_7916del	NM_016333.4	NP_057417.3:p.(Ser2648del)	NC_000016.9:g.2819178_2819180del	(Likely) benign	1 lab	af886594af
1:240370387 FMN2 C>T	1	240370387	240370387	C	T	FMN2	c.2275C>T	NM_020066.5	NP_064450.3:p.(Pro759Ser)	NC_000001.10:g.240370387C>T	(Likely) benign	1 lab	af899e8a89
1:144918984 PDE4DIP C>T	1	144918984	144918984	C	T	PDE4DIP	c.1400G>A	NM_001395426.1	NP_001382355.1:p.(Arg467Gln)	NC_000001.10:g.144918984C>T	(Likely) benign	1 lab	af8c3fc8f4
8:107751744 OXR1 A>G	8	107751744	107751744	A	G	OXR1	c.2096A>G	NM_001198533.2	NP_001185462.1:p.(Glu699Gly)	NC_000008.10:g.107751744A>G	VUS	1 lab	af8d1b535f
20:18507172 SEC23B C>T	20	18507172	18507172	C	T	SEC23B	c.990C>T	NM_006363.6	NP_006354.2:p.(Thr330=)	NC_000020.10:g.18507172C>T	(Likely) benign	1 lab	af8db8c958
17:39978567 FKBP10 GAACCAGGACCGC>G	17	39978567	39978588	GAACCAGGACCGC	G	FKBP10	c.1666_1677del	NM_021939.4	NP_068758.3:p.(Arg556_Asp559del)	NC_000017.10:g.39978577_39978588del	VUS	1 lab	af91a02f92
17:10304514 MYH8 A>G	17	10304514	10304514	A	G	MYH8	c.3109-6T>C	NM_002472.3	NP_002463.2:p.?	NC_000017.10:g.10304514A>G	(Likely) benign	1 lab	af9321d72c
X:67943522 STARD8 C>T	X	67943522	67943522	C	T	STARD8	c.2854C>T	NM_001142503.3	NP_001135975.1:p.(Pro952Ser)	NC_000023.10:g.67943522C>T	(Likely) benign	1 lab	af933d4a98
6:109774960 MICAL1 C>T	6	109774960	109774960	C	T	MICAL1	c.347G>A	NM_022765.4	NP_073602.3:p.(Arg116His)	NC_000006.11:g.109774960C>T	(Likely) benign	1 lab	af9435c2fb
2:203420104 BMPR2 G>A	2	203420104	203420104	G	A	BMPR2	c.1716G>A	NM_001204.7	NP_001195.2:p.(Met572Ile)	NC_000002.11:g.203420104G>A	(Likely) benign	1 lab	af95023991
12:66308886 HMGA2 A>C	12	66308886	66308886	A	C	HMGA2	c.250-36277A>C	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66308886A>C	(Likely) benign	1 lab	af95a9aeab
4:3516559 LRPAP1 C>T	4	3516559	3516559	C	T	LRPAP1	c.931G>A	NM_002337.4	NP_002328.1:p.(Val311Met)	NC_000004.11:g.3516559C>T	(Likely) benign	1 lab	af95f696ae
5:126158455 LMNB1 C>G	5	126158455	126158455	C	G	LMNB1	c.1387-18C>G	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126158455C>G	VUS	1 lab	af982caf0e
3:191888451 FGF12 GGAA>G	3	191888451	191888454	GGAA	G	FGF12	c.229-9_229-7del	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.191888452_191888454del	(Likely) benign	1 lab	2a784d7e0f
1:101440467 SLC30A7 C>T	1	101440467	101440467	C	T	SLC30A7	c.*54C>T	NM_133496.5	NP_598003.2:p.?	NC_000001.10:g.101440467C>T	(Likely) benign	1 lab	af9b481654
11:111709076 ALG9 C>T	11	111709076	111709076	C	T	ALG9	c.1220G>A	NM_024740.2	NP_079016.2:p.(Arg407Gln)	NC_000011.9:g.111709076C>T	VUS	1 lab	af9b5a8f86
2:166903471 SCN1A C>A	2	166903471	166903471	C	A	SCN1A	c.1186G>T	NM_001165963.3	NP_001159435.1:p.(Gly396Trp)	NC_000002.11:g.166903471C>A	(Likely) pathogenic	1 lab	32fe24733e
3:196754781 MELTF A>G	3	196754781	196754781	A	G	MELTF	c.50T>C	NM_005929.6	NP_005920.2:p.(Val17Ala)	NC_000003.11:g.196754781A>G	(Likely) benign	1 lab	af9fab22ed
Y:6932075 TBL1Y G>C	Y	6932075	6932075	G	C	TBL1Y	c.342G>C	NM_033284.2	NP_150600.1:p.(Glu114Asp)	NC_000024.9:g.6932075G>C	VUS	1 lab	afa00ab5fd
17:40117241 ODAD4 G>A	17	40117241	40117241	G	A	ODAD4	c.1759G>A	NM_031421.5	NP_113609.1:p.(Gly587Arg)	NC_000017.10:g.40117241G>A	(Likely) benign	1 lab	afa4744ad0
12:48373352 COL2A1 G>A	12	48373352	48373352	G	A	COL2A1	c.2680-5C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48373352G>A	(Likely) benign	1 lab	afa502fbc1
19:47570041 ZC3H4 C>T	19	47570041	47570041	C	T	ZC3H4	c.3484G>A	NM_015168.2	NP_055983.1:p.(Glu1162Lys)	NC_000019.9:g.47570041C>T	VUS	1 lab	afa6479e16
11:70332394 SHANK2 G>T	11	70332394	70332394	G	T	SHANK2	c.4004C>A	NM_012309.5	NP_036441.2:p.(Ala1335Glu)	NC_000011.9:g.70332394G>T	VUS	1 lab	afa6f0f34d
3:46005885 FYCO1 T>C	3	46005885	46005885	T	C	FYCO1	c.3212A>G	NM_024513.4	NP_078789.2:p.(Gln1071Arg)	NC_000003.11:g.46005885T>C	(Likely) benign	1 lab	afa7cfcf0a
6:28891176 TRIM27 T>C	6	28891176	28891176	T	C	TRIM27	c.234A>G	NM_006510.5	NP_006501.1:p.(Val78=)	NC_000006.11:g.28891176T>C	(Likely) benign	1 lab	afa8632f9f
6:110763838 SLC22A16 G>C	6	110763838	110763838	G	C	SLC22A16	c.792C>G	NM_033125.4	NP_149116.2:p.(Val264=)	NC_000006.11:g.110763838G>C	VUS	1 lab	afa8e9a439
12:6707104 CHD4 C>T	12	6707104	6707104	C	T	CHD4	c.1848G>A	NM_001273.5	NP_001264.2:p.(Gly616=)	NC_000012.11:g.6707104C>T	(Likely) benign	1 lab	afaafc2b61
19:6928150 ADGRE1 C>T	19	6928150	6928150	C	T	ADGRE1	c.2223-6C>T	NM_001974.5	NP_001965.3:p.?	NC_000019.9:g.6928150C>T	VUS	1 lab	afab2b6c64
18:42530422 SETBP1 T>G	18	42530422	42530422	T	G	SETBP1	c.1117T>G	NM_015559.3	NP_056374.2:p.(Ser373Ala)	NC_000018.9:g.42530422T>G	(Likely) benign	1 lab	afabdbf284
17:8402610 MYH10 G>A	17	8402610	8402610	G	A	MYH10	c.3929C>T	NM_001256012.3	NP_001242941.1:p.(Ala1310Val)	NC_000017.10:g.8402610G>A	(Likely) benign	1 lab	afadce6e1e
19:12758311 MAN2B1 G>A	19	12758311	12758311	G	A	MAN2B1	c.2766C>T	NM_000528.4	NP_000519.2:p.(Ala922=)	NC_000019.9:g.12758311G>A	(Likely) benign	1 lab	32fe91a7b0
7:42088126 GLI3 T>C	7	42088126	42088126	T	C	GLI3	c.643A>G	NM_000168.6	NP_000159.3:p.(Met215Val)	NC_000007.13:g.42088126T>C	(Likely) benign	1 lab	afaf131641
11:68517932 TESMIN G>C	11	68517932	68517932	G	C	TESMIN	c.197C>G	NM_004923.3	NP_004914.2:p.(Ala66Gly)	NC_000011.9:g.68517932G>C	(Likely) benign	1 lab	afaf39609f
15:32450637 CHRNA7 G>A	15	32450637	32450637	G	A	CHRNA7	c.623G>A	NM_000746.6	NP_000737.1:p.(Arg208Lys)	NC_000015.9:g.32450637G>A	VUS	1 lab	afaf8ffd8a
15:76508905 ETFA T>C	15	76508905	76508905	T	C	ETFA	c.997A>G	NM_000126.4	NP_000117.1:p.(Lys333Glu)	NC_000015.9:g.76508905T>C	VUS	1 lab	afb0f77cd8
7:147600798 CNTNAP2 C>T	7	147600798	147600798	C	T	CNTNAP2	c.2240C>T	NM_014141.6	NP_054860.1:p.(Ala747Val)	NC_000007.13:g.147600798C>T	VUS	1 lab	afb374619d
1:151733293 MRPL9 G>A	1	151733293	151733293	G	A	MRPL9	c.671C>T	NM_031420.4	NP_113608.1:p.(Thr224Met)	NC_000001.10:g.151733293G>A	(Likely) benign	1 lab	afb4f9210d
11:62494464 HNRNPUL2 C>CCCGCCGGGCCCGGCCCCGCCG	11	62494464	62494492	C	CCCGCCGGGCCCGGCCCCGCCG	HNRNPUL2	c.144_164dup	NM_001079559.3	NP_001073027.1:p.(Gly49_Gly55dup)	NC_000011.9:g.62494472_62494492dup	VUS	1 lab	afb51b9a8a
17:15967446 NCOR1 CTCCCGT>C	17	15967446	15967462	CTCCCGT	C	NCOR1	c.5151_5156del	NM_006311.4	NP_006302.2:p.(Arg1720_Glu1721del)	NC_000017.10:g.15967457_15967462del	VUS	1 lab	afb54f8b75
4:178361511 AGA C>G	4	178361511	178361511	C	G	AGA	c.197G>C	NM_000027.4	NP_000018.2:p.(Arg66Thr)	NC_000004.11:g.178361511C>G	(Likely) benign	1 lab	afb8af0c24
4:79387387 FRAS1 T>C	4	79387387	79387387	T	C	FRAS1	c.7055T>C	NM_025074.7	NP_079350.5:p.(Val2352Ala)	NC_000004.11:g.79387387T>C	VUS	1 lab	afba728a7a
2:29344334 CLIP4 C>G	2	29344334	29344334	C	G	CLIP4	c.80C>G	NM_024692.6	NP_078968.3:p.(Ser27Cys)	NC_000002.11:g.29344334C>G	(Likely) benign	1 lab	afbe117be5
16:50746095 NOD2 C>T	16	50746095	50746095	C	T	NOD2	c.2273C>T	NM_022162.3	NP_071445.1:p.(Ala758Val)	NC_000016.9:g.50746095C>T	VUS	1 lab	28b9c6312e
12:9013740 A2ML1 G>T	12	9013740	9013740	G	T	A2ML1	c.3349G>T	NM_144670.6	NP_653271.3:p.(Val1117Leu)	NC_000012.11:g.9013740G>T	VUS	1 lab	afbf1b6802
14:23889390 MYH7 AGCCCT>A	14	23889390	23889396	AGCCCT	A	MYH7	c.3385_3389del	NM_000257.4	NP_000248.2:p.(Arg1129Ter)	NC_000014.8:g.23889392_23889396del	VUS	1 lab	afc1f45dab
22:46776858 CELSR1 G>A	22	46776858	46776858	G	A	CELSR1	c.7089-6C>T	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46776858G>A	(Likely) benign	1 lab	afc2a60312
4:79443774 FRAS1 T>A	4	79443774	79443774	T	A	FRAS1	c.10649-29T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79443774T>A	(Likely) benign	1 lab	2a7e5982d5
11:17409078 KCNJ11 C>T	11	17409078	17409078	C	T	KCNJ11	c.561G>A	NM_000525.4	NP_000516.3:p.(Ala187=)	NC_000011.9:g.17409078C>T	(Likely) benign	1 lab	afc3b19c6d
7:73470666 ELN G>C	7	73470666	73470666	G	C	ELN	c.1216G>C	NM_000501.4	NP_000492.2:p.(Gly406Arg)	NC_000007.13:g.73470666G>C	VUS	1 lab	afc3e7b5b1
1:150990292 PRUNE1 C>T	1	150990292	150990292	C	T	PRUNE1	c.44C>T	NM_021222.3	NP_067045.1:p.(Ser15Phe)	NC_000001.10:g.150990292C>T	(Likely) benign	1 lab	afc5347821
X:32045300 DMD C>CAG	X	32045300	32045323	C	CAG	DMD	c.6439-58671_6439-58670dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32045322_32045323dup	VUS	1 lab	afc68f28cc
19:17999206 SLC5A5 C>G	19	17999206	17999206	C	G	SLC5A5	c.1593C>G	NM_000453.3	NP_000444.1:p.(Tyr531Ter)	NC_000019.9:g.17999206C>G	(Likely) pathogenic	1 lab	afc73913d6
5:37048741 NIPBL G>A	5	37048741	37048741	G	A	NIPBL	c.6727G>A	NM_133433.4	NP_597677.2:p.(Glu2243Lys)	NC_000005.9:g.37048741G>A	VUS	1 lab	afc7a48406
13:77581716 FBXL3 G>C	13	77581716	77581716	G	C	FBXL3	c.851C>G	NM_012158.4	NP_036290.1:p.(Ser284Ter)	NC_000013.10:g.77581716G>C	(Likely) pathogenic	1 lab	afc7e8b2a2
12:49447028 KMT2D G>C	12	49447028	49447028	G	C	KMT2D	c.916C>G	NM_003482.4	NP_003473.3:p.(Pro306Ala)	NC_000012.11:g.49447028G>C	VUS	1 lab	afc8b9d3ea
12:106890654 POLR3B A>G	12	106890654	106890654	A	G	POLR3B	c.2942A>G	NM_018082.6	NP_060552.4:p.(Tyr981Cys)	NC_000012.11:g.106890654A>G	VUS	1 lab	afc9b0ff22
7:96635367 DLX6 GCAGCAGCAGCAGCAGCAGCAA>G	7	96635367	96635408	GCAGCAGCAGCAGCAGCAGCAA	G	DLX6	c.99_119del	NM_005222.4	NP_005213.3:p.(Gln38_Gln44del)	NC_000007.13:g.96635388_96635408del	VUS	1 lab	afcb83b9ea
11:5461860 OR51I1 A>C	11	5461860	5461860	A	C	OR51I1	c.885T>G	NM_001005288.3	NP_001005288.1:p.(Ser295Arg)	NC_000011.9:g.5461860A>C	VUS	1 lab	afcbaebca9
15:99500517 IGF1R C>G	15	99500517	99500517	C	G	IGF1R	c.3950C>G	NM_000875.5	NP_000866.1:p.(Pro1317Arg)	NC_000015.9:g.99500517C>G	(Likely) benign	1 lab	afcbb044a1
16:630270 PIGQ T>C	16	630270	630270	T	C	PIGQ	c.1416+7T>C	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.630270T>C	(Likely) benign	1 lab	b021e20fe4
22:26166848 MYO18B T>C	22	26166848	26166848	T	C	MYO18B	c.1589T>C	NM_032608.7	NP_115997.5:p.(Leu530Pro)	NC_000022.10:g.26166848T>C	VUS	1 lab	afcd60c33c
X:71493144 RPS4X C>G	X	71493144	71493144	C	G	RPS4X	c.628G>C	NM_001007.5	NP_000998.1:p.(Val210Leu)	NC_000023.10:g.71493144C>G	VUS	1 lab	afcefb81db
X:51076224 NUDT10 A>G	X	51076224	51076224	A	G	NUDT10	c.407A>G	NM_001304963.2	NP_001291892.1:p.(His136Arg)	NC_000023.10:g.51076224A>G	(Likely) benign	1 lab	afcf9820f6
1:120468430 NOTCH2 A>G	1	120468430	120468430	A	G	NOTCH2	c.4009T>C	NM_024408.4	NP_077719.2:p.(Phe1337Leu)	NC_000001.10:g.120468430A>G	VUS	1 lab	afd094eefd
11:108202692 ATM G>C	11	108202692	108202692	G	C	ATM	c.7716G>C	NM_000051.4	NP_000042.3:p.(Leu2572=)	NC_000011.9:g.108202692G>C	VUS	1 lab	afd0b8a318
22:37581279 C1QTNF6 T>C	22	37581279	37581279	T	C	C1QTNF6	c.268A>G	NM_031910.4	NP_114116.3:p.(Ile90Val)	NC_000022.10:g.37581279T>C	VUS	1 lab	afd1441fbe
1:181701767 CACNA1E C>A	1	181701767	181701767	C	A	CACNA1E	c.2545C>A	NM_001205293.3	NP_001192222.1:p.(Arg849Ser)	NC_000001.10:g.181701767C>A	VUS	1 lab	afd1abadad
1:156642704 NES C>T	1	156642704	156642704	C	T	NES	c.1276G>A	NM_006617.2	NP_006608.1:p.(Glu426Lys)	NC_000001.10:g.156642704C>T	VUS	1 lab	afd2406067
6:33694681 IP6K3 G>T	6	33694681	33694681	G	T	IP6K3	c.416C>A	NM_054111.5	NP_473452.2:p.(Pro139Gln)	NC_000006.11:g.33694681G>T	VUS	1 lab	afd3407c35
13:32802637 FRY G>T	13	32802637	32802637	G	T	FRY	c.5251G>T	NM_023037.3	NP_075463.2:p.(Asp1751Tyr)	NC_000013.10:g.32802637G>T	VUS	1 lab	afd4d4cb77
17:80195290 SLC16A3 G>A	17	80195290	80195290	G	A	SLC16A3	c.644G>A	NM_004207.4	NP_004198.1:p.(Arg215Gln)	NC_000017.10:g.80195290G>A	(Likely) benign	1 lab	afd5a4eadf
15:99467226 IGF1R C>T	15	99467226	99467226	C	T	IGF1R	c.2607C>T	NM_000875.5	NP_000866.1:p.(Tyr869=)	NC_000015.9:g.99467226C>T	(Likely) benign	1 lab	afd6720d7f
9:35093177 PIGO A>C	9	35093177	35093177	A	C	PIGO	c.969T>G	NM_032634.4	NP_116023.2:p.(Leu323=)	NC_000009.11:g.35093177A>C	(Likely) benign	1 lab	2a822a18c7
15:99472904 IGF1R A>G	15	99472904	99472904	A	G	IGF1R	c.2885+15A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99472904A>G	(Likely) benign	1 lab	afd79381f3
8:72969190 TRPA1 G>T	8	72969190	72969190	G	T	TRPA1	c.1156C>A	NM_007332.3	NP_015628.2:p.(Pro386Thr)	NC_000008.10:g.72969190G>T	(Likely) benign	1 lab	afd9dececb
15:89400387 ACAN AC>A	15	89400387	89400389	AC	A	ACAN	c.4573del	NM_001369268.1	NP_001356197.1:p.(Leu1525SerfsTer11)	NC_000015.9:g.89400389del	(Likely) pathogenic	1 lab	afd9f85743
12:105151046 CHST11 G>A	12	105151046	105151046	G	A	CHST11	c.524G>A	NM_018413.6	NP_060883.1:p.(Arg175His)	NC_000012.11:g.105151046G>A	VUS	1 lab	afdb6be685
11:1432669 BRSK2 G>A	11	1432669	1432669	G	A	BRSK2	c.91+21064G>A	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1432669G>A	(Likely) benign	1 lab	afdb915759
15:42178123 SPTBN5 C>T	15	42178123	42178123	C	T	SPTBN5	c.1330G>A	NM_016642.4	NP_057726.4:p.(Asp444Asn)	NC_000015.9:g.42178123C>T	VUS	1 lab	afdc5ab367
2:152507174 NEB AGTCCAC>A	2	152507174	152507183	AGTCCAC	A	NEB	c.7135_7140del	NM_001164508.2	NP_001157980.2:p.(Val2379_Asp2380del)	NC_000002.11:g.152507178_152507183del	VUS	1 lab	afdf57f43d
1:27107084 ARID1A G>A	1	27107084	27107084	G	A	ARID1A	c.6695G>A	NM_006015.6	NP_006006.3:p.(Arg2232Gln)	NC_000001.10:g.27107084G>A	VUS	1 lab	afdf889c0d
6:41130807 TREM2 C>T	6	41130807	41130807	C	T	TREM2	c.14G>A	NM_018965.4	NP_061838.1:p.(Arg5Gln)	NC_000006.11:g.41130807C>T	(Likely) benign	1 lab	afe0966871
4:87730944 PTPN13 C>G	4	87730944	87730944	C	G	PTPN13	c.7106C>G	NM_080683.3	NP_542414.1:p.(Ser2369Cys)	NC_000004.11:g.87730944C>G	VUS	1 lab	afe1adde44
19:48197405 BICRA C>T	19	48197405	48197405	C	T	BICRA	c.2317C>T	NM_001394372.1	NP_001381301.1:p.(Pro773Ser)	NC_000019.9:g.48197405C>T	(Likely) benign	1 lab	afe34c2a54
8:133184914 KCNQ3 G>C	8	133184914	133184914	G	C	KCNQ3	c.1071C>G	NM_004519.4	NP_004510.1:p.(Leu357=)	NC_000008.10:g.133184914G>C	(Likely) benign	1 lab	2a842abd73
10:103371118 FBXW4 C>T	10	103371118	103371118	C	T	FBXW4	c.1634G>A	NM_022039.4	NP_071322.2:p.(Arg545His)	NC_000010.10:g.103371118C>T	VUS	1 lab	afe47c6ffd
16:57693318 ADGRG1 C>T	16	57693318	57693318	C	T	ADGRG1	c.1287-7C>T	NM_201525.4	NP_958933.1:p.?	NC_000016.9:g.57693318C>T	(Likely) benign	1 lab	afe48ba987
16:10133938 GRIN2A C>T	16	10133938	10133938	C	T	GRIN2A	c.415-101530G>A	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.10133938C>T	(Likely) benign	1 lab	afe530f58d
17:78078930 GAA C>G	17	78078930	78078930	C	G	GAA	c.545C>G	NM_000152.5	NP_000143.2:p.(Thr182Arg)	NC_000017.10:g.78078930C>G	VUS	1 lab	afe5f19066
16:142658 NPRL3 G>A	16	142658	142658	G	A	NPRL3	c.1097C>T	NM_001077350.3	NP_001070818.1:p.(Ala366Val)	NC_000016.9:g.142658G>A	(Likely) benign	1 lab	afe967846a
X:153171795 AVPR2 G>A	X	153171795	153171795	G	A	AVPR2	c.835G>A	NM_000054.6	NP_000045.1:p.(Val279Ile)	NC_000023.10:g.153171795G>A	(Likely) benign	1 lab	afec49a83d
5:55248135 IL6ST C>T	5	55248135	55248135	C	T	IL6ST	c.1495G>A	NM_002184.4	NP_002175.2:p.(Val499Ile)	NC_000005.9:g.55248135C>T	(Likely) benign	1 lab	afecaa1de6
10:72643753 PCBD1 A>G	10	72643753	72643753	A	G	PCBD1	c.269T>C	NM_000281.4	NP_000272.1:p.(Ile90Thr)	NC_000010.10:g.72643753A>G	VUS	1 lab	afed781ab3
X:12904741 TLR7 C>A	X	12904741	12904741	C	A	TLR7	c.1114C>A	NM_016562.4	NP_057646.1:p.(Leu372Met)	NC_000023.10:g.12904741C>A	VUS	1 lab	afeea2aa4f
11:77825037 ALG8 T>A	11	77825037	77825037	T	A	ALG8	c.674-2A>T	NM_024079.5	NP_076984.2:p.?	NC_000011.9:g.77825037T>A	(Likely) pathogenic	1 lab	aff1c8d521
X:140993801 MAGEC1 GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC>G	X	140993801	140994030	GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC	G	MAGEC1	c.631_840del	NM_005462.5	NP_005453.2:p.(Leu211_Leu280del)	NC_000023.10:g.140993821_140994030del	VUS	1 lab	aff273a986
3:99979923 TBC1D23 A>G	3	99979923	99979923	A	G	TBC1D23	c.53+8A>G	NM_001199198.3	NP_001186127.1:p.?	NC_000003.11:g.99979923A>G	(Likely) benign	1 lab	aff43135b2
3:49153233 USP19 T>C	3	49153233	49153233	T	C	USP19	c.1616A>G	NM_001199161.2	NP_001186090.1:p.(Asp539Gly)	NC_000003.11:g.49153233T>C	VUS	1 lab	aff4e0d0c9
9:131862828 CRAT G>A	9	131862828	131862828	G	A	CRAT	c.946C>T	NM_000755.5	NP_000746.3:p.(Leu316Phe)	NC_000009.11:g.131862828G>A	(Likely) benign	1 lab	aff54d04cf
4:102117217 PPP3CA C>T	4	102117217	102117217	C	T	PPP3CA	c.115G>A	NM_000944.5	NP_000935.1:p.(Gly39Arg)	NC_000004.11:g.102117217C>T	(Likely) benign	1 lab	aff7da6189
7:15425071 AGMO A>T	7	15425071	15425071	A	T	AGMO	c.1074T>A	NM_001004320.2	NP_001004320.1:p.(Ala358=)	NC_000007.13:g.15425071A>T	(Likely) benign	1 lab	aff86aab85
X:14883541 FANCB T>A	X	14883541	14883541	T	A	FANCB	c.92A>T	NM_001018113.3	NP_001018123.1:p.(Asn31Ile)	NC_000023.10:g.14883541T>A	(Likely) benign	1 lab	aff9b47422
1:61872224 NFIA C>G	1	61872224	61872224	C	G	NFIA	c.1255-10C>G	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872224C>G	(Likely) benign	1 lab	affb81326e
3:189526054 TP63 C>T	3	189526054	189526054	C	T	TP63	c.325-7C>T	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189526054C>T	VUS	1 lab	affc10b449
8:144998622 PLEC C>T	8	144998622	144998622	C	T	PLEC	c.5475G>A	NM_201384.3	NP_958786.1:p.(Ala1825=)	NC_000008.10:g.144998622C>T	(Likely) benign	1 lab	affcb0de96
1:120460337 NOTCH2 G>C	1	120460337	120460337	G	C	NOTCH2	c.5978C>G	NM_024408.4	NP_077719.2:p.(Thr1993Ser)	NC_000001.10:g.120460337G>C	(Likely) benign	1 lab	affd3e3b95
21:33725029 URB1 C>T	21	33725029	33725029	C	T	URB1	c.2603G>A	NM_014825.3	NP_055640.2:p.(Arg868Gln)	NC_000021.8:g.33725029C>T	(Likely) benign	1 lab	affd8301d3
11:46889632 LRP4 G>C	11	46889632	46889632	G	C	LRP4	c.4985C>G	NM_002334.4	NP_002325.2:p.(Thr1662Ser)	NC_000011.9:g.46889632G>C	(Likely) benign	1 lab	afff219403
19:41074162 SPTBN4 G>A	19	41074162	41074162	G	A	SPTBN4	c.6930G>A	NM_020971.3	NP_066022.2:p.(Met2310Ile)	NC_000019.9:g.41074162G>A	(Likely) benign	1 lab	afff956ada
10:13699233 FRMD4A G>GCTGCCT	10	13699233	13699248	G	GCTGCCT	FRMD4A	c.2350_2355dup	NM_018027.5	NP_060497.3:p.(Gln787_Arg788dup)	NC_000010.10:g.13699243_13699248dup	VUS	1 lab	b0005c6da9
16:2334965 ABCA3 G>A	16	2334965	2334965	G	A	ABCA3	c.3518C>T	NM_001089.3	NP_001080.2:p.(Thr1173Met)	NC_000016.9:g.2334965G>A	VUS	1 lab	28ba47416a
19:7128930 INSR C>T	19	7128930	7128930	C	T	INSR	c.2878G>A	NM_000208.4	NP_000199.2:p.(Gly960Ser)	NC_000019.9:g.7128930C>T	VUS	1 lab	b0b8259cfb
9:127618242 WDR38 G>A	9	127618242	127618242	G	A	WDR38	c.405+5G>A	NM_001045476.3	NP_001038941.1:p.?	NC_000009.11:g.127618242G>A	(Likely) benign	1 lab	b00283c6b2
6:109232159 ARMC2 A>G	6	109232159	109232159	A	G	ARMC2	c.1081A>G	NM_032131.6	NP_115507.4:p.(Arg361Gly)	NC_000006.11:g.109232159A>G	VUS	1 lab	b0036ffc7c
13:28494559 PDX1 C>A	13	28494559	28494559	C	A	PDX1	c.284C>A	NM_000209.4	NP_000200.1:p.(Pro95Gln)	NC_000013.10:g.28494559C>A	(Likely) benign	1 lab	b006444569
16:23640953 PALB2 G>A	16	23640953	23640953	G	A	PALB2	c.2514+8C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640953G>A	(Likely) benign	1 lab	b006473985
17:71382582 SDK2 A>C	17	71382582	71382582	A	C	SDK2	c.4498+2T>G	NM_001144952.2	NP_001138424.1:p.?	NC_000017.10:g.71382582A>C	VUS	1 lab	b008102313
12:78512060 NAV3 G>A	12	78512060	78512060	G	A	NAV3	c.3023G>A	NM_001024383.2	NP_001019554.1:p.(Ser1008Asn)	NC_000012.11:g.78512060G>A	(Likely) benign	1 lab	b008508986
16:69187559 UTP4 C>G	16	69187559	69187559	C	G	UTP4	c.1075C>G	NM_032830.3	NP_116219.2:p.(Arg359Gly)	NC_000016.9:g.69187559C>G	(Likely) benign	1 lab	b00855fccb
7:105148593 PUS7 G>A	7	105148593	105148593	G	A	PUS7	c.367C>T	NM_019042.5	NP_061915.2:p.(His123Tyr)	NC_000007.13:g.105148593G>A	(Likely) benign	1 lab	b009cc0922
1:22206959 HSPG2 A>G	1	22206959	22206959	A	G	HSPG2	c.2092T>C	NM_005529.7	NP_005520.4:p.(Tyr698His)	NC_000001.10:g.22206959A>G	VUS	1 lab	b00b41bdb7
9:131600330 KYAT1 C>T	9	131600330	131600330	C	T	KYAT1	c.438G>A	NM_004059.5	NP_004050.3:p.(Pro146=)	NC_000009.11:g.131600330C>T	VUS	1 lab	b00bda0599
1:186278008 PRG4 C>T	1	186278008	186278008	C	T	PRG4	c.3157C>T	NM_005807.6	NP_005798.3:p.(Arg1053Cys)	NC_000001.10:g.186278008C>T	(Likely) benign	1 lab	b00d0eabbb
16:50825605 CYLD A>G	16	50825605	50825605	A	G	CYLD	c.2241+4A>G	NM_001378743.1	NP_001365672.1:p.?	NC_000016.9:g.50825605A>G	(Likely) benign	1 lab	b00e67ba91
1:16912079 NBPF1 T>A	1	16912079	16912079	T	A	NBPF1	c.893A>T	NM_001405666.3	NP_001392595.1:p.(Gln298Leu)	NC_000001.10:g.16912079T>A	(Likely) benign	1 lab	b00fee535f
17:7400323 POLR2A G>A	17	7400323	7400323	G	A	POLR2A	c.778G>A	NM_000937.5	NP_000928.1:p.(Val260Met)	NC_000017.10:g.7400323G>A	VUS	1 lab	2a8aa2b029
9:34657333 IL11RA G>A	9	34657333	34657333	G	A	IL11RA	c.479+1G>A	NM_001142784.3	NP_001136256.1:p.?	NC_000009.11:g.34657333G>A	VUS	1 lab	b01222d511
4:6302388 WFS1 T>C	4	6302388	6302388	T	C	WFS1	c.866T>C	NM_006005.3	NP_005996.2:p.(Val289Ala)	NC_000004.11:g.6302388T>C	VUS	1 lab	b012e641fc
17:79892834 PYCR1 C>T	17	79892834	79892834	C	T	PYCR1	c.508G>A	NM_006907.4	NP_008838.2:p.(Val170Ile)	NC_000017.10:g.79892834C>T	VUS	1 lab	b013724d86
6:51892942 PKHD1 T>C	6	51892942	51892942	T	C	PKHD1	c.3560+12A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51892942T>C	(Likely) benign	1 lab	b0184fb411
13:101890164 NALCN A>G	13	101890164	101890164	A	G	NALCN	c.1376T>C	NM_052867.4	NP_443099.1:p.(Ile459Thr)	NC_000013.10:g.101890164A>G	VUS	1 lab	b01aeee9df
5:141335808 PCDH12 C>T	5	141335808	141335808	C	T	PCDH12	c.1609G>A	NM_016580.4	NP_057664.1:p.(Ala537Thr)	NC_000005.9:g.141335808C>T	VUS	1 lab	b01bc0ef6a
15:40585932 PLCB2 G>T	15	40585932	40585932	G	T	PLCB2	c.2062-7C>A	NM_004573.3	NP_004564.2:p.?	NC_000015.9:g.40585932G>T	(Likely) benign	1 lab	b01c404ff8
1:183102552 LAMC1 C>T	1	183102552	183102552	C	T	LAMC1	c.3716C>T	NM_002293.4	NP_002284.3:p.(Ala1239Val)	NC_000001.10:g.183102552C>T	VUS	1 lab	b01cd69fe8
19:17394633 ANKLE1 C>T	19	17394633	17394633	C	T	ANKLE1	c.1060C>T	NM_152363.6	NP_689576.6:p.(Arg354Trp)	NC_000019.9:g.17394633C>T	(Likely) benign	1 lab	b01dcbff80
20:62043212 KCNQ2 G>C	20	62043212	62043212	G	C	KCNQ2	c.1763+1591C>G	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62043212G>C	VUS	1 lab	b01f0b7502
15:85383946 ALPK3 A>G	15	85383946	85383946	A	G	ALPK3	c.1436A>G	NM_020778.5	NP_065829.4:p.(Asn479Ser)	NC_000015.9:g.85383946A>G	VUS	1 lab	28bc78044c
17:48266851 COL1A1 C>T	17	48266851	48266851	C	T	COL1A1	c.2716G>A	NM_000088.4	NP_000079.2:p.(Gly906Ser)	NC_000017.10:g.48266851C>T	(Likely) benign	1 lab	b026c06f0a
16:1504427 CLCN7 C>T	16	1504427	1504427	C	T	CLCN7	c.1138G>A	NM_001287.6	NP_001278.1:p.(Ala380Thr)	NC_000016.9:g.1504427C>T	VUS	1 lab	b02732a8c2
19:3982323 EEF2 C>T	19	3982323	3982323	C	T	EEF2	c.712G>A	NM_001961.4	NP_001952.1:p.(Ala238Thr)	NC_000019.9:g.3982323C>T	(Likely) benign	1 lab	b027b2eec9
16:23641432 PALB2 T>C	16	23641432	23641432	T	C	PALB2	c.2043A>G	NM_024675.4	NP_078951.2:p.(Lys681=)	NC_000016.9:g.23641432T>C	(Likely) benign	1 lab	b0293ab942
19:14578443 PKN1 G>A	19	14578443	14578443	G	A	PKN1	c.1798G>A	NM_002741.5	NP_002732.3:p.(Ala600Thr)	NC_000019.9:g.14578443G>A	(Likely) benign	1 lab	b029bf40fa
7:21678688 DNAH11 TA>T	7	21678688	21678689	TA	T	DNAH11	c.4944+6del	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21678689del	(Likely) benign	1 lab	b02a928e82
22:32232990 DEPDC5 G>A	22	32232990	32232990	G	A	DEPDC5	c.2203G>A	NM_001242896.3	NP_001229825.1:p.(Gly735Ser)	NC_000022.10:g.32232990G>A	(Likely) benign	1 lab	b02b9cd5d3
X:71846854 PHKA1 C>T	X	71846854	71846854	C	T	PHKA1	c.1760G>A	NM_002637.4	NP_002628.2:p.(Arg587Gln)	NC_000023.10:g.71846854C>T	(Likely) benign	1 lab	b02bcedfa1
16:88925138 TRAPPC2L G>T	16	88925138	88925138	G	T	TRAPPC2L	c.145G>T	NM_001318525.2	NP_001305454.1:p.(Ala49Ser)	NC_000016.9:g.88925138G>T	(Likely) benign	1 lab	b02c557d59
15:28375414 HERC2 A>T	15	28375414	28375414	A	T	HERC2	c.12697T>A	NM_004667.6	NP_004658.3:p.(Ser4233Thr)	NC_000015.9:g.28375414A>T	VUS	1 lab	b02d41e8bf
11:6631066 ILK G>A	11	6631066	6631066	G	A	ILK	c.968G>A	NM_004517.4	NP_004508.1:p.(Arg323His)	NC_000011.9:g.6631066G>A	VUS	1 lab	28bcac0320
16:29824694 PRRT2 G>A	16	29824694	29824694	G	A	PRRT2	c.319G>A	NM_145239.3	NP_660282.2:p.(Glu107Lys)	NC_000016.9:g.29824694G>A	VUS	1 lab	28bf23a447
17:59924691 BRIP1 A>C	17	59924691	59924691	A	C	BRIP1	c.508-110T>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59924691A>C	(Likely) benign	1 lab	2a8bd16df8
18:55274381 NARS1 C>T	18	55274381	55274381	C	T	NARS1	c.986G>A	NM_004539.4	NP_004530.1:p.(Arg329Gln)	NC_000018.9:g.55274381C>T	(Likely) pathogenic	1 lab	b03279393e
6:152651704 SYNE1 C>T	6	152651704	152651704	C	T	SYNE1	c.14116G>A	NM_182961.4	NP_892006.3:p.(Val4706Ile)	NC_000006.11:g.152651704C>T	VUS	1 lab	b034b96166
11:2186563 TH G>A	11	2186563	2186563	G	A	TH	c.1233C>T	NM_000360.4	NP_000351.2:p.(Ala411=)	NC_000011.9:g.2186563G>A	(Likely) benign	1 lab	b03525f475
2:220348348 SPEG C>T	2	220348348	220348348	C	T	SPEG	c.6163C>T	NM_005876.5	NP_005867.3:p.(Arg2055Trp)	NC_000002.11:g.220348348C>T	(Likely) benign	1 lab	b037f0d067
10:89474593 PAPSS2 C>T	10	89474593	89474593	C	T	PAPSS2	c.612C>T	NM_001015880.2	NP_001015880.1:p.(His204=)	NC_000010.10:g.89474593C>T	(Likely) benign	1 lab	b0386f4ce1
11:68673553 IGHMBP2 A>G	11	68673553	68673553	A	G	IGHMBP2	c.103A>G	NM_002180.3	NP_002171.2:p.(Ile35Val)	NC_000011.9:g.68673553A>G	(Likely) benign	1 lab	b03b77dc69
10:73567423 CDH23 C>T	10	73567423	73567423	C	T	CDH23	c.8459C>T	NM_022124.6	NP_071407.4:p.(Thr2820Ile)	NC_000010.10:g.73567423C>T	VUS	1 lab	b03b9875a9
3:174951765 NAALADL2 C>A	3	174951765	174951765	C	A	NAALADL2	c.590C>A	NM_207015.3	NP_996898.2:p.(Ser197Ter)	NC_000003.11:g.174951765C>A	VUS	1 lab	b03bedbd18
16:29809718 KIF22 G>A	16	29809718	29809718	G	A	KIF22	c.290G>A	NM_007317.3	NP_015556.1:p.(Arg97Lys)	NC_000016.9:g.29809718G>A	(Likely) benign	1 lab	b03d342b2c
1:107961259 NTNG1 C>T	1	107961259	107961259	C	T	NTNG1	c.1087+10929C>T	NM_001113226.3	NP_001106697.1:p.?	NC_000001.10:g.107961259C>T	(Likely) benign	1 lab	b03deeba5f
11:46898036 LRP4 C>T	11	46898036	46898036	C	T	LRP4	c.3517G>A	NM_002334.4	NP_002325.2:p.(Val1173Ile)	NC_000011.9:g.46898036C>T	(Likely) benign	1 lab	b040e2ef7e
3:57232918 HESX1 C>T	3	57232918	57232918	C	T	HESX1	c.220G>A	NM_003865.3	NP_003856.1:p.(Val74Met)	NC_000003.11:g.57232918C>T	VUS	1 lab	b197247037
17:48655746 CACNA1G C>G	17	48655746	48655746	C	G	CACNA1G	c.2122C>G	NM_018896.5	NP_061496.2:p.(Pro708Ala)	NC_000017.10:g.48655746C>G	VUS	1 lab	b0437b7eac
19:5131962 KDM4B G>A	19	5131962	5131962	G	A	KDM4B	c.1850G>A	NM_015015.3	NP_055830.1:p.(Arg617Gln)	NC_000019.9:g.5131962G>A	(Likely) benign	1 lab	28c2a55ee3
2:197171849 HECW2 C>G	2	197171849	197171849	C	G	HECW2	c.2689+5G>C	NM_001348768.2	NP_001335697.1:p.?	NC_000002.11:g.197171849C>G	(Likely) benign	1 lab	b047e51d63
9:712757 KANK1 C>T	9	712757	712757	C	T	KANK1	c.1991C>T	NM_015158.5	NP_055973.2:p.(Ala664Val)	NC_000009.11:g.712757C>T	VUS	1 lab	b04901ed3e
10:68979633 CTNNA3 G>A	10	68979633	68979633	G	A	CTNNA3	c.580-5C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68979633G>A	(Likely) benign	1 lab	28c30291c4
9:140772395 CACNA1B T>A	9	140772395	140772395	T	A	CACNA1B	c.10T>A	NM_000718.4	NP_000709.1:p.(Phe4Ile)	NC_000009.11:g.140772395T>A	VUS	1 lab	b04b7067a2
16:71603783 TAT G>T	16	71603783	71603783	G	T	TAT	c.1099C>A	NM_000353.3	NP_000344.1:p.(Arg367Ser)	NC_000016.9:g.71603783G>T	(Likely) benign	1 lab	b04cb99f14
17:80194686 SLC16A3 T>C	17	80194686	80194686	T	C	SLC16A3	c.305T>C	NM_004207.4	NP_004198.1:p.(Met102Thr)	NC_000017.10:g.80194686T>C	VUS	1 lab	b04fec8f39
9:87325605 NTRK2 C>T	9	87325605	87325605	C	T	NTRK2	c.482C>T	NM_006180.6	NP_006171.2:p.(Thr161Ile)	NC_000009.11:g.87325605C>T	VUS	1 lab	b0513efead
6:12124584 HIVEP1 A>G	6	12124584	12124584	A	G	HIVEP1	c.4556A>G	NM_002114.4	NP_002105.3:p.(His1519Arg)	NC_000006.11:g.12124584A>G	(Likely) benign	1 lab	b05327a0b6
11:64533620 SF1 C>T	11	64533620	64533620	C	T	SF1	c.1590G>A	NM_004630.4	NP_004621.2:p.(Thr530=)	NC_000011.9:g.64533620C>T	VUS	1 lab	b05394cacf
7:810110 DNAAF5 C>T	7	810110	810110	C	T	DNAAF5	c.1786C>T	NM_017802.4	NP_060272.3:p.(Pro596Ser)	NC_000007.13:g.810110C>T	VUS	1 lab	b053e99991
8:70743996 SLCO5A1 T>C	8	70743996	70743996	T	C	SLCO5A1	c.907+6A>G	NM_030958.3	NP_112220.2:p.?	NC_000008.10:g.70743996T>C	(Likely) benign	1 lab	b056fe9b28
8:21978578 HR A>G	8	21978578	21978578	A	G	HR	c.2367T>C	NM_005144.5	NP_005135.2:p.(Ser789=)	NC_000008.10:g.21978578A>G	(Likely) benign	1 lab	b0574c67af
2:113330173 POLR1B T>C	2	113330173	113330173	T	C	POLR1B	c.2109T>C	NM_019014.6	NP_061887.2:p.(Tyr703=)	NC_000002.11:g.113330173T>C	(Likely) benign	1 lab	b057f45af7
19:4047959 ZBTB7A C>T	19	4047959	4047959	C	T	ZBTB7A	c.1546G>A	NM_015898.4	NP_056982.1:p.(Ala516Thr)	NC_000019.9:g.4047959C>T	(Likely) benign	1 lab	b05864566b
4:3478025 DOK7 CACCCTGCCCGCCCGTGATGCCCTCTT>C	4	3478025	3478051	CACCCTGCCCGCCCGTGATGCCCTCTT	C	DOK7	c.332-43_332-18del	NM_173660.5	NP_775931.3:p.?	NC_000004.11:g.3478026_3478051del	(Likely) benign	1 lab	b05a6a0f03
1:109440081 GPSM2 GGTTTTTT>G	1	109440081	109440109	GGTTTTTT	G	GPSM2	c.279-11_279-5del	NM_013296.5	NP_037428.3:p.?	NC_000001.10:g.109440103_109440109del	(Likely) benign	1 lab	b05af7b784
17:1636907 WDR81 C>T	17	1636907	1636907	C	T	WDR81	c.4576C>T	NM_001163809.2	NP_001157281.1:p.(Arg1526Cys)	NC_000017.10:g.1636907C>T	VUS	1 lab	b05be3e937
7:143047558 CLCN1 A>G	7	143047558	143047558	A	G	CLCN1	c.2497A>G	NM_000083.3	NP_000074.3:p.(Thr833Ala)	NC_000007.13:g.143047558A>G	VUS	1 lab	b05d46b31d
5:42689033 GHR G>C	5	42689033	42689033	G	C	GHR	c.178G>C	NM_000163.5	NP_000154.1:p.(Glu60Gln)	NC_000005.9:g.42689033G>C	VUS	1 lab	b2851f8323
4:73942680 ANKRD17 T>G	4	73942680	73942680	T	G	ANKRD17	c.7729A>C	NM_032217.5	NP_115593.3:p.(Thr2577Pro)	NC_000004.11:g.73942680T>G	(Likely) benign	1 lab	b05dc03370
18:55342156 ATP8B1 T>C	18	55342156	55342156	T	C	ATP8B1	c.1729A>G	NM_001374385.1	NP_001361314.1:p.(Ile577Val)	NC_000018.9:g.55342156T>C	(Likely) benign	1 lab	b05e4109a7
7:30649231 GARS1 G>C	7	30649231	30649231	G	C	GARS1	c.766G>C	NM_002047.4	NP_002038.2:p.(Asp256His)	NC_000007.13:g.30649231G>C	VUS	1 lab	b05f7eff94
21:46930062 COL18A1 C>T	21	46930062	46930062	C	T	COL18A1	c.3580C>T	NM_001379500.1	NP_001366429.1:p.(Arg1194Trp)	NC_000021.8:g.46930062C>T	VUS	1 lab	b05f8e6834
8:116599603 TRPS1 C>G	8	116599603	116599603	C	G	TRPS1	c.2325G>C	NM_014112.5	NP_054831.2:p.(Glu775Asp)	NC_000008.10:g.116599603C>G	VUS	1 lab	b060e2e7ab
1:147091959 BCL9 G>T	1	147091959	147091959	G	T	BCL9	c.1998G>T	NM_004326.4	NP_004317.2:p.(Gln666His)	NC_000001.10:g.147091959G>T	(Likely) benign	1 lab	b062c54674
6:1612141 FOXC1 C>CGCG	6	1612141	1612161	C	CGCG	FOXC1	c.1479_1481dup	NM_001453.3	NP_001444.2:p.(Ala495dup)	NC_000006.11:g.1612159_1612161dup	(Likely) benign	1 lab	b0636b368f
2:179414716 TTN G>T	2	179414716	179414716	G	T	TTN	c.91849C>A	NM_001267550.2	NP_001254479.2:p.(Gln30617Lys)	NC_000002.11:g.179414716G>T	VUS	1 lab	b064a85cb3
2:179426208 TTN G>A	2	179426208	179426208	G	A	TTN	c.79728C>T	NM_001256850.1	NP_001243779.1:p.(Ser26576=)	NC_000002.11:g.179426208G>A	(Likely) benign	1 lab	28cd55d375
16:27457366 IL21R G>A	16	27457366	27457366	G	A	IL21R	c.824G>A	NM_181078.3	NP_851564.1:p.(Arg275Gln)	NC_000016.9:g.27457366G>A	(Likely) benign	1 lab	b0694d1f48
11:62384144 B3GAT3 G>C	11	62384144	62384144	G	C	B3GAT3	c.743C>G	NM_012200.4	NP_036332.2:p.(Pro248Arg)	NC_000011.9:g.62384144G>C	VUS	1 lab	b069b0bfee
1:94645488 ARHGAP29 C>T	1	94645488	94645488	C	T	ARHGAP29	c.2273G>A	NM_004815.4	NP_004806.3:p.(Arg758Gln)	NC_000001.10:g.94645488C>T	VUS	1 lab	b06ae6ffd8
2:145153996 ZEB2 T>C	2	145153996	145153996	T	C	ZEB2	c.3050A>G	NM_014795.4	NP_055610.1:p.(His1017Arg)	NC_000002.11:g.145153996T>C	VUS	1 lab	b06bf9a011
22:40757582 ADSL C>T	22	40757582	40757582	C	T	ADSL	c.953C>T	NM_000026.4	NP_000017.1:p.(Pro318Leu)	NC_000022.10:g.40757582C>T	(Likely) pathogenic	1 lab	b06c17900c
6:32052379 TNXB C>T	6	32052379	32052379	C	T	TNXB	c.3256G>A	NM_001365276.2	NP_001352205.1:p.(Glu1086Lys)	NC_000006.11:g.32052379C>T	VUS	1 lab	b06cb58acf
9:27202863 TEK A>T	9	27202863	27202863	A	T	TEK	c.1955A>T	NM_000459.5	NP_000450.3:p.(His652Leu)	NC_000009.11:g.27202863A>T	VUS	1 lab	b06d01cba6
2:220337817 SPEG C>T	2	220337817	220337817	C	T	SPEG	c.4146C>T	NM_005876.5	NP_005867.3:p.(His1382=)	NC_000002.11:g.220337817C>T	(Likely) benign	1 lab	b06d0cfe52
20:9404501 PLCB4 G>A	20	9404501	9404501	G	A	PLCB4	c.2426G>A	NM_001377142.1	NP_001364071.1:p.(Arg809Gln)	NC_000020.10:g.9404501G>A	VUS	1 lab	b06d92a913
8:144993860 PLEC G>A	8	144993860	144993860	G	A	PLEC	c.10129C>T	NM_201384.3	NP_958786.1:p.(Arg3377Trp)	NC_000008.10:g.144993860G>A	VUS	1 lab	b06e750d37
7:82784471 PCLO A>AGCCAGGCTGTTGAGGTGGGGGCTTTGCTGG	7	82784471	82784538	A	AGCCAGGCTGTTGAGGTGGGGGCTTTGCTGG	PCLO	c.1456_1485dup	NM_033026.6	NP_149015.2:p.(Pro486_Gly495dup)	NC_000007.13:g.82784509_82784538dup	VUS	1 lab	b06eb9032c
1:160106143 ATP1A2 T>C	1	160106143	160106143	T	C	ATP1A2	c.2546T>C	NM_000702.4	NP_000693.1:p.(Met849Thr)	NC_000001.10:g.160106143T>C	VUS	1 lab	b06f4ef93b
X:49021040 MAGIX C>T	X	49021040	49021040	C	T	MAGIX	c.197-5C>T	NM_024859.4	NP_079135.3:p.?	NC_000023.10:g.49021040C>T	(Likely) benign	1 lab	b070045544
14:59830402 DAAM1 C>G	14	59830402	59830402	C	G	DAAM1	c.2728C>G	NM_001270520.2	NP_001257449.1:p.(Pro910Ala)	NC_000014.8:g.59830402C>G	(Likely) benign	1 lab	b0700e1b95
X:69699118 DLG3 A>G	X	69699118	69699118	A	G	DLG3	c.1520+4A>G	NM_021120.4	NP_066943.2:p.?	NC_000023.10:g.69699118A>G	VUS	1 lab	b07058ecbd
3:169802494 GPR160 T>C	3	169802494	169802494	T	C	GPR160	c.734T>C	NM_014373.3	NP_055188.1:p.(Ile245Thr)	NC_000003.11:g.169802494T>C	VUS	1 lab	b073bca74c
16:2231025 CASKIN1 T>C	16	2231025	2231025	T	C	CASKIN1	c.2344A>G	NM_020764.4	NP_065815.1:p.(Lys782Glu)	NC_000016.9:g.2231025T>C	(Likely) benign	1 lab	b074e1d4b3
16:2570448 AMDHD2 ACACGGCTCACGATG>A	16	2570448	2570463	ACACGGCTCACGATG	A	AMDHD2	c.-10_4del	NM_001330449.2	NP_001317378.1:p.?	NC_000016.9:g.2570450_2570463del	VUS	1 lab	b0753ab3ed
14:97322590 VRK1 A>G	14	97322590	97322590	A	G	VRK1	c.830+3A>G	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97322590A>G	VUS	1 lab	b07777ba68
9:13222360 MPDZ T>C	9	13222360	13222360	T	C	MPDZ	c.619A>G	NM_001378778.1	NP_001365707.1:p.(Ser207Gly)	NC_000009.11:g.13222360T>C	VUS	1 lab	b0791db3f5
7:21640635 DNAH11 T>C	7	21640635	21640635	T	C	DNAH11	c.3263T>C	NM_001277115.2	NP_001264044.1:p.(Ile1088Thr)	NC_000007.13:g.21640635T>C	(Likely) benign	1 lab	b07b66c484
19:19154798 ARMC6 CAG>C	19	19154798	19154800	CAG	C	ARMC6	c.197-2_197-1del	NM_001199196.2	NP_001186125.1:p.?	NC_000019.9:g.19154799_19154800del	VUS	1 lab	b07d2d0f02
5:176595782 NSD1 G>A	5	176595782	176595782	G	A	NSD1	c.928-23103G>A	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176595782G>A	VUS	1 lab	b07db8595c
1:22183601 HSPG2 G>A	1	22183601	22183601	G	A	HSPG2	c.5482C>T	NM_005529.7	NP_005520.4:p.(Arg1828Cys)	NC_000001.10:g.22183601G>A	VUS	1 lab	b0812f3a23
6:39271731 KCNK17 A>G	6	39271731	39271731	A	G	KCNK17	c.688+2T>C	NM_031460.4	NP_113648.2:p.?	NC_000006.11:g.39271731A>G	VUS	1 lab	b08152c296
1:91739270 HFM1 T>C	1	91739270	91739270	T	C	HFM1	c.3771A>G	NM_001017975.6	NP_001017975.5:p.(Lys1257=)	NC_000001.10:g.91739270T>C	VUS	1 lab	b082e57e24
5:78111910 ARSB T>C	5	78111910	78111910	T	C	ARSB	c.1213+23269A>G	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78111910T>C	VUS	1 lab	b084070e9a
6:129634127 LAMA2 A>G	6	129634127	129634127	A	G	LAMA2	c.3296A>G	NM_000426.4	NP_000417.3:p.(Asn1099Ser)	NC_000006.11:g.129634127A>G	(Likely) benign	1 lab	b0841bc8a5
13:32899191 BRCA2 CTGAATTAT>C	13	32899191	32899201	CTGAATTAT	C	BRCA2	c.317-19_317-12del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32899194_32899201del	(Likely) benign	1 lab	b08561951e
2:165697747 COBLL1 C>T	2	165697747	165697747	C	T	COBLL1	c.-41G>A	NM_001365672.2	NP_001352601.1:p.?	NC_000002.11:g.165697747C>T	VUS	1 lab	b085e8b449
17:78022465 CCDC40 G>A	17	78022465	78022465	G	A	CCDC40	c.760G>A	NM_017950.4	NP_060420.2:p.(Glu254Lys)	NC_000017.10:g.78022465G>A	VUS	1 lab	b0864109cb
1:152281327 FLG TGGA>T	1	152281327	152281331	TGGA	T	FLG	c.6032_6034del	NM_002016.2	NP_002007.1:p.(Leu2011del)	NC_000001.10:g.152281329_152281331del	VUS	1 lab	b08956a862
3:9489388 SETD5 C>G	3	9489388	9489388	C	G	SETD5	c.1801C>G	NM_001080517.3	NP_001073986.1:p.(Leu601Val)	NC_000003.11:g.9489388C>G	(Likely) benign	1 lab	b08ba8b532
3:12434125 PPARG A>G	3	12434125	12434125	A	G	PPARG	c.403A>G	NM_138711.6	NP_619725.3:p.(Arg135Gly)	NC_000003.11:g.12434125A>G	VUS	1 lab	b08d004d1a
4:57215447 AASDH C>CACACTTAGAT	4	57215447	57215461	C	CACACTTAGAT	AASDH	c.2460_2469dup	NM_001323890.2	NP_001310819.1:p.(Gly824IlefsTer2)	NC_000004.11:g.57215452_57215461dup	VUS	1 lab	28ce15e162
22:42606033 TCF20 G>A	22	42606033	42606033	G	A	TCF20	c.5279C>T	NM_001378418.1	NP_001365347.1:p.(Ser1760Phe)	NC_000022.10:g.42606033G>A	VUS	1 lab	b08e52a433
3:38648209 SCN5A G>A	3	38648209	38648209	G	A	SCN5A	c.1091C>T	NM_001099404.2	NP_001092874.1:p.(Ala364Val)	NC_000003.11:g.38648209G>A	VUS	1 lab	28cea7bd50
8:100654621 VPS13B T>G	8	100654621	100654621	T	G	VPS13B	c.5803T>G	NM_152564.5	NP_689777.3:p.(Ser1935Ala)	NC_000008.10:g.100654621T>G	VUS	1 lab	b08f12b688
20:1294073 SDCBP2 G>A	20	1294073	1294073	G	A	SDCBP2	c.295C>T	NM_080489.5	NP_536737.3:p.(Arg99Ter)	NC_000020.10:g.1294073G>A	VUS	1 lab	b113faf8b7
X:99663295 PCDH19 T>C	X	99663295	99663295	T	C	PCDH19	c.301A>G	NM_001184880.2	NP_001171809.1:p.(Ile101Val)	NC_000023.10:g.99663295T>C	VUS	1 lab	b08fd25bbc
19:18900804 COMP G>A	19	18900804	18900804	G	A	COMP	c.337C>T	NM_000095.3	NP_000086.2:p.(Pro113Ser)	NC_000019.9:g.18900804G>A	(Likely) benign	1 lab	b090de7765
16:88871912 CDT1 G>C	16	88871912	88871912	G	C	CDT1	c.553G>C	NM_030928.4	NP_112190.2:p.(Val185Leu)	NC_000016.9:g.88871912G>C	(Likely) benign	1 lab	b0915a18f0
9:131339776 SPTAN1 A>G	9	131339776	131339776	A	G	SPTAN1	c.1076A>G	NM_001130438.3	NP_001123910.1:p.(Asp359Gly)	NC_000009.11:g.131339776A>G	VUS	1 lab	b0917b963c
X:70784541 OGT G>A	X	70784541	70784541	G	A	OGT	c.2527G>A	NM_181672.3	NP_858058.1:p.(Val843Ile)	NC_000023.10:g.70784541G>A	VUS	1 lab	b091be8c62
2:179467281 TTN T>C	2	179467281	179467281	T	C	TTN	c.54848A>G	NM_001267550.2	NP_001254479.2:p.(Asp18283Gly)	NC_000002.11:g.179467281T>C	(Likely) benign	1 lab	b092179dbd
17:58885413 BCAS3 T>C	17	58885413	58885413	T	C	BCAS3	c.452T>C	NM_017679.5	NP_060149.3:p.(Val151Ala)	NC_000017.10:g.58885413T>C	VUS	1 lab	b0927bbfd8
21:34922027 SON G>A	21	34922027	34922027	G	A	SON	c.490G>A	NM_138927.4	NP_620305.3:p.(Ala164Thr)	NC_000021.8:g.34922027G>A	VUS	1 lab	b094631131
9:35792834 NPR2 C>T	9	35792834	35792834	C	T	NPR2	c.429C>T	NM_003995.4	NP_003986.2:p.(Gly143=)	NC_000009.11:g.35792834C>T	(Likely) benign	1 lab	b0962e5eaf
5:125928385 ALDH7A1 C>T	5	125928385	125928385	C	T	ALDH7A1	c.283G>A	NM_001182.5	NP_001173.2:p.(Ala95Thr)	NC_000005.9:g.125928385C>T	VUS	1 lab	b0967c299d
16:1268968 CACNA1H A>G	16	1268968	1268968	A	G	CACNA1H	c.5888-2A>G	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1268968A>G	VUS	1 lab	b0975491fe
2:148709950 ORC4 A>T	2	148709950	148709950	A	T	ORC4	c.580T>A	NM_181741.4	NP_859525.1:p.(Cys194Ser)	NC_000002.11:g.148709950A>T	VUS	1 lab	b098c47b31
1:109617626 TAF13 CTCTT>C	1	109617626	109617635	CTCTT	C	TAF13	c.85_88del	NM_005645.4	NP_005636.1:p.(Lys29AspfsTer10)	NC_000001.10:g.109617632_109617635del	VUS	1 lab	b098f15df4
19:38974038 RYR1 C>T	19	38974038	38974038	C	T	RYR1	c.4816C>T	NM_000540.3	NP_000531.2:p.(Arg1606Cys)	NC_000019.9:g.38974038C>T	VUS	1 lab	b09b03195b
22:20713519 MISSING C>T	22	20713519	20713519	C	T	MISSING				NC_000022.10:g.20713519C>T	(Likely) benign	1 lab	b09c9942c5
14:81663779 GTF2A1 G>T	14	81663779	81663779	G	T	GTF2A1	c.452C>A	NM_015859.4	NP_056943.1:p.(Pro151His)	NC_000014.8:g.81663779G>T	VUS	1 lab	b0a01c0d5b
12:22047113 ABCC9 G>T	12	22047113	22047113	G	T	ABCC9	c.1660-5C>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22047113G>T	(Likely) benign	1 lab	b0a1d238c4
11:20668380 SLC6A5 G>C	11	20668380	20668380	G	C	SLC6A5	c.1970G>C	NM_004211.5	NP_004202.4:p.(Gly657Ala)	NC_000011.9:g.20668380G>C	VUS	1 lab	b0a57a59ba
15:90210333 PLIN1 G>A	15	90210333	90210333	G	A	PLIN1	c.1043C>T	NM_002666.5	NP_002657.3:p.(Ser348Leu)	NC_000015.9:g.90210333G>A	(Likely) benign	1 lab	b0a6266535
2:166167080 SCN2A CTG>C	2	166167080	166167082	CTG	C	SCN2A	c.946_947del	NM_001040142.2	NP_001035232.1:p.(Trp316GlyfsTer2)	NC_000002.11:g.166167081_166167082del	(Likely) pathogenic	1 lab	b0a83aacda
16:1497033 CLCN7 G>C	16	1497033	1497033	G	C	CLCN7	c.2305C>G	NM_001287.6	NP_001278.1:p.(Leu769Val)	NC_000016.9:g.1497033G>C	VUS	1 lab	b0a85e7dc3
6:138727179 HEBP2 A>G	6	138727179	138727179	A	G	HEBP2	c.310A>G	NM_014320.3	NP_055135.1:p.(Thr104Ala)	NC_000006.11:g.138727179A>G	VUS	1 lab	b0a8cc919b
22:32889202 FBXO7 C>T	22	32889202	32889202	C	T	FBXO7	c.1078C>T	NM_012179.4	NP_036311.3:p.(Arg360Cys)	NC_000022.10:g.32889202C>T	VUS	1 lab	b0a9ded0ec
20:34207597 SPAG4 C>T	20	34207597	34207597	C	T	SPAG4	c.1006C>T	NM_003116.3	NP_003107.1:p.(Leu336=)	NC_000020.10:g.34207597C>T	(Likely) benign	1 lab	b0aea39fa7
2:55863449 PNPT1 C>T	2	55863449	55863449	C	T	PNPT1	c.2275G>A	NM_033109.5	NP_149100.2:p.(Val759Met)	NC_000002.11:g.55863449C>T	VUS	1 lab	b0af92c2ef
12:52200905 SCN8A T>G	12	52200905	52200905	T	G	SCN8A	c.5635T>G	NM_001330260.2	NP_001317189.1:p.(Ser1879Ala)	NC_000012.11:g.52200905T>G	VUS	1 lab	b0b178636a
15:73996537 CD276 A>C	15	73996537	73996537	A	C	CD276	c.1093A>C	NM_001024736.2	NP_001019907.1:p.(Met365Leu)	NC_000015.9:g.73996537A>C	(Likely) benign	1 lab	b0b29407a6
16:81990465 PLCG2 C>T	16	81990465	81990465	C	T	PLCG2	c.3736C>T	NM_002661.5	NP_002652.2:p.(Gln1246Ter)	NC_000016.9:g.81990465C>T	VUS	1 lab	b0b3572e76
19:39038962 RYR1 G>A	19	39038962	39038962	G	A	RYR1	c.12184G>A	NM_000540.3	NP_000531.2:p.(Asp4062Asn)	NC_000019.9:g.39038962G>A	VUS	1 lab	b0b3ed72d2
7:70194298 AUTS2 C>G	7	70194298	70194298	C	G	AUTS2	c.742+30692C>G	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70194298C>G	(Likely) benign	1 lab	2a967ae14d
10:93011083 PCGF5 T>G	10	93011083	93011083	T	G	PCGF5	c.360T>G	NM_032373.5	NP_115749.2:p.(Asp120Glu)	NC_000010.10:g.93011083T>G	VUS	1 lab	b0b884a95a
15:89390454 ACAN G>A	15	89390454	89390454	G	A	ACAN	c.1430-20G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89390454G>A	(Likely) benign	1 lab	b0b91494e1
8:116427149 TRPS1 C>A	8	116427149	116427149	C	A	TRPS1	c.2987G>T	NM_014112.5	NP_054831.2:p.(Arg996Met)	NC_000008.10:g.116427149C>A	(Likely) benign	1 lab	b0bacf38f5
8:22874837 RHOBTB2 G>A	8	22874837	22874837	G	A	RHOBTB2	c.2039G>A	NM_015178.3	NP_055993.2:p.(Arg680Gln)	NC_000008.10:g.22874837G>A	VUS	1 lab	b0bb0056ea
5:14471428 TRIO C>T	5	14471428	14471428	C	T	TRIO	c.5765C>T	NM_007118.4	NP_009049.2:p.(Ala1922Val)	NC_000005.9:g.14471428C>T	(Likely) benign	1 lab	b0bb168e8c
X:15301698 ASB11 G>A	X	15301698	15301698	G	A	ASB11	c.901C>T	NM_080873.3	NP_543149.1:p.(Arg301Ter)	NC_000023.10:g.15301698G>A	VUS	1 lab	b0bdd0c989
X:70149646 SLC7A3 T>C	X	70149646	70149646	T	C	SLC7A3	c.202A>G	NM_032803.6	NP_116192.4:p.(Ile68Val)	NC_000023.10:g.70149646T>C	(Likely) benign	1 lab	b0be219c2d
15:101438340 ALDH1A3 C>T	15	101438340	101438340	C	T	ALDH1A3	c.833C>T	NM_000693.4	NP_000684.2:p.(Thr278Met)	NC_000015.9:g.101438340C>T	VUS	1 lab	b0be36830b
11:60719008 SLC15A3 C>G	11	60719008	60719008	C	G	SLC15A3	c.16G>C	NM_016582.3	NP_057666.1:p.(Ala6Pro)	NC_000011.9:g.60719008C>G	VUS	1 lab	b0bea0a122
8:19362969 CSGALNACT1 G>A	8	19362969	19362969	G	A	CSGALNACT1	c.377C>T	NM_001354483.2	NP_001341412.1:p.(Ser126Leu)	NC_000008.10:g.19362969G>A	(Likely) benign	1 lab	b0bfb04d57
21:47863841 PCNT CT>C	21	47863841	47863842	CT	C	PCNT	c.9820del	NM_006031.6	NP_006022.3:p.(Ser3274ProfsTer16)	NC_000021.8:g.47863842del	VUS	1 lab	b0c04958d6
1:22183538 HSPG2 C>T	1	22183538	22183538	C	T	HSPG2	c.5545G>A	NM_005529.7	NP_005520.4:p.(Asp1849Asn)	NC_000001.10:g.22183538C>T	(Likely) benign	1 lab	b0c20d91fe
16:2142984 PKD1 C>T	16	2142984	2142984	C	T	PKD1	c.11127G>A	NM_001009944.3	NP_001009944.3:p.(Leu3709=)	NC_000016.9:g.2142984C>T	(Likely) benign	1 lab	b0c2a8f262
X:135789121 ARHGEF6 T>C	X	135789121	135789121	T	C	ARHGEF6	c.992A>G	NM_004840.3	NP_004831.1:p.(Tyr331Cys)	NC_000023.10:g.135789121T>C	VUS	1 lab	b0c35dd36a
17:48271408 COL1A1 G>T	17	48271408	48271408	G	T	COL1A1	c.1669-6C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271408G>T	(Likely) benign	1 lab	b0c6a0034b
3:196229972 RNF168 C>T	3	196229972	196229972	C	T	RNF168	c.73G>A	NM_152617.4	NP_689830.2:p.(Glu25Lys)	NC_000003.11:g.196229972C>T	VUS	1 lab	28d612915b
11:65744533 SART1 A>G	11	65744533	65744533	A	G	SART1	c.1906A>G	NM_005146.5	NP_005137.1:p.(Arg636Gly)	NC_000011.9:g.65744533A>G	VUS	1 lab	b0c6a5a6c3
1:11300540 MTOR G>T	1	11300540	11300540	G	T	MTOR	c.1606C>A	NM_004958.4	NP_004949.1:p.(Gln536Lys)	NC_000001.10:g.11300540G>T	VUS	1 lab	b0c791a906
9:35793901 NPR2 A>G	9	35793901	35793901	A	G	NPR2	c.674A>G	NM_003995.4	NP_003986.2:p.(Tyr225Cys)	NC_000009.11:g.35793901A>G	VUS	1 lab	b0c83d02b5
16:2158828 PKD1 A>G	16	2158828	2158828	A	G	PKD1	c.6340T>C	NM_001009944.3	NP_001009944.3:p.(Tyr2114His)	NC_000016.9:g.2158828A>G	VUS	1 lab	b0c960c2ff
5:122506503 PRDM6 C>T	5	122506503	122506503	C	T	PRDM6	c.1197C>T	NM_001136239.4	NP_001129711.1:p.(Asp399=)	NC_000005.9:g.122506503C>T	(Likely) benign	1 lab	b0cad008ef
12:108954862 SART3 G>C	12	108954862	108954862	G	C	SART3	c.69C>G	NM_014706.4	NP_055521.1:p.(Asp23Glu)	NC_000012.11:g.108954862G>C	(Likely) benign	1 lab	28d908a4f8
1:50884775 DMRTA2 G>GGCA	1	50884775	50884778	G	GGCA	DMRTA2	c.1190_1191insTGC	NM_032110.3	NP_115486.1:p.(Ala397dup)	NC_000001.10:g.50884777_50884778insAGC	VUS	1 lab	b0ce3744e8
X:43817801 NDP T>C	X	43817801	43817801	T	C	NDP	c.91A>G	NM_000266.4	NP_000257.1:p.(Ile31Val)	NC_000023.10:g.43817801T>C	VUS	1 lab	b0cf1b35e4
1:40780061 COL9A2 T>G	1	40780061	40780061	T	G	COL9A2	c.151-2A>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40780061T>G	VUS	1 lab	b0d1a4fa27
17:3591400 P2RX5 C>G	17	3591400	3591400	C	G	P2RX5	c.888-1G>C	NM_002561.4	NP_002552.2:p.?	NC_000017.10:g.3591400C>G	VUS	1 lab	b0d1eec81d
9:131383537 SPTAN1 T>G	9	131383537	131383537	T	G	SPTAN1	c.5832+2T>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131383537T>G	(Likely) pathogenic	1 lab	b0d225c439
6:33653832 ITPR3 C>A	6	33653832	33653832	C	A	ITPR3	c.5670C>A	NM_002224.4	NP_002215.2:p.(Asn1890Lys)	NC_000006.11:g.33653832C>A	VUS	1 lab	b0d3b03ebf
12:120794697 MSI1 G>A	12	120794697	120794697	G	A	MSI1	c.652+8C>T	NM_002442.4	NP_002433.1:p.?	NC_000012.11:g.120794697G>A	(Likely) benign	1 lab	b0d3cca2ab
2:131519707 AMER3 C>T	2	131519707	131519707	C	T	AMER3	c.62C>T	NM_152698.3	NP_689911.2:p.(Pro21Leu)	NC_000002.11:g.131519707C>T	(Likely) benign	1 lab	b0d482b83c
7:151949640 KMT2C A>G	7	151949640	151949640	A	G	KMT2C	c.1460T>C	NM_170606.3	NP_733751.2:p.(Met487Thr)	NC_000007.13:g.151949640A>G	(Likely) benign	1 lab	b0d4da0f56
22:41572819 EP300 G>A	22	41572819	41572819	G	A	EP300	c.5104G>A	NM_001429.4	NP_001420.2:p.(Asp1702Asn)	NC_000022.10:g.41572819G>A	(Likely) pathogenic	1 lab	b0d4dcda42
16:2807916 SRRM2 A>C	16	2807916	2807916	A	C	SRRM2	c.485A>C	NM_016333.4	NP_057417.3:p.(Gln162Pro)	NC_000016.9:g.2807916A>C	(Likely) benign	1 lab	b0d54ec392
18:42456594 SETBP1 A>G	18	42456594	42456594	A	G	SETBP1	c.540+7346A>G	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456594A>G	(Likely) benign	1 lab	b0d77577a5
19:54656675 CNOT3 CTG>C	19	54656675	54656679	CTG	C	CNOT3	c.1979_1980del	NM_014516.4	NP_055331.1:p.(Val660GlyfsTer22)	NC_000019.9:g.54656678_54656679del	(Likely) pathogenic	1 lab	b0d7d6c013
4:170345931 NEK1 G>A	4	170345931	170345931	G	A	NEK1	c.2995C>T	NM_001199397.3	NP_001186326.1:p.(Gln999Ter)	NC_000004.11:g.170345931G>A	(Likely) pathogenic	1 lab	b0d92d5868
18:19034523 GREB1L A>G	18	19034523	19034523	A	G	GREB1L	c.2181A>G	NM_001142966.3	NP_001136438.1:p.(Ser727=)	NC_000018.9:g.19034523A>G	VUS	1 lab	b0da0a8fc8
5:86629076 RASA1 G>T	5	86629076	86629076	G	T	RASA1	c.829-8G>T	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86629076G>T	(Likely) benign	1 lab	b0daafd57d
11:2609997 KCNQ1 A>G	11	2609997	2609997	A	G	KCNQ1	c.1306A>G	NM_000218.3	NP_000209.2:p.(Lys436Glu)	NC_000011.9:g.2609997A>G	VUS	1 lab	b0db45a898
12:21998742 ABCC9 T>A	12	21998742	21998742	T	A	ABCC9	c.2891A>T	NM_020297.4	NP_064693.2:p.(Asp964Val)	NC_000012.11:g.21998742T>A	VUS	1 lab	b0dc8c266e
2:108488442 RGPD4 G>C	2	108488442	108488442	G	C	RGPD4	c.3982G>C	NM_182588.3	NP_872394.2:p.(Glu1328Gln)	NC_000002.11:g.108488442G>C	VUS	1 lab	b0dca1e53c
19:5699116 LONP1 A>G	19	5699116	5699116	A	G	LONP1	c.1607T>C	NM_004793.4	NP_004784.2:p.(Ile536Thr)	NC_000019.9:g.5699116A>G	VUS	1 lab	b0df229655
20:43034848 HNF4A G>A	20	43034848	43034848	G	A	HNF4A	c.266G>A	NM_000457.5	NP_000448.3:p.(Arg89Gln)	NC_000020.10:g.43034848G>A	(Likely) pathogenic	1 lab	b0dffd9c2a
8:145739470 RECQL4 C>T	8	145739470	145739470	C	T	RECQL4	c.1900G>A	NM_004260.4	NP_004251.4:p.(Val634Met)	NC_000008.10:g.145739470C>T	VUS	1 lab	b0e00a71a4
19:11323874 DOCK6 C>T	19	11323874	11323874	C	T	DOCK6	c.4469G>A	NM_020812.4	NP_065863.2:p.(Arg1490Gln)	NC_000019.9:g.11323874C>T	VUS	1 lab	b0e40bf4ca
19:15302312 NOTCH3 G>T	19	15302312	15302312	G	T	NOTCH3	c.959C>A	NM_000435.3	NP_000426.2:p.(Thr320Lys)	NC_000019.9:g.15302312G>T	VUS	1 lab	b0e45661ab
1:200559350 KIF14 A>G	1	200559350	200559350	A	G	KIF14	c.2864T>C	NM_014875.3	NP_055690.1:p.(Met955Thr)	NC_000001.10:g.200559350A>G	VUS	1 lab	b0e4ec95fd
22:20102381 TRMT2A G>C	22	20102381	20102381	G	C	TRMT2A	c.1024C>G	NM_022727.6	NP_073564.3:p.(Leu342Val)	NC_000022.10:g.20102381G>C	(Likely) benign	1 lab	b0e5a5c87e
16:30770989 PHKG2 A>C	16	30770989	30770989	A	C	PHKG2	c.*2571A>C	NM_000294.3	NP_000285.1:p.?	NC_000016.9:g.30770989A>C	VUS	1 lab	b0e615581d
20:43031210 HNF4A G>A	20	43031210	43031210	G	A	HNF4A	c.115+1083G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43031210G>A	(Likely) benign	1 lab	b0e6f39724
21:35202008 ITSN1 C>T	21	35202008	35202008	C	T	ITSN1	c.3310C>T	NM_003024.3	NP_003015.2:p.(Arg1104Ter)	NC_000021.8:g.35202008C>T	VUS	1 lab	b0e75c6a00
14:105413287 AHNAK2 G>A	14	105413287	105413287	G	A	AHNAK2	c.8501C>T	NM_138420.4	NP_612429.2:p.(Ala2834Val)	NC_000014.8:g.105413287G>A	(Likely) benign	1 lab	b0e7a3c049
11:17470077 ABCC8 C>T	11	17470077	17470077	C	T	ABCC8	c.1318G>A	NM_000352.6	NP_000343.2:p.(Ala440Thr)	NC_000011.9:g.17470077C>T	VUS	1 lab	b0e9fa5bda
1:205814674 PM20D1 CT>C	1	205814674	205814675	CT	C	PM20D1	c.267del	NM_152491.5	NP_689704.4:p.(Val90TrpfsTer33)	NC_000001.10:g.205814675del	VUS	1 lab	b0eaeb6cf4
18:19756987 GATA6 C>A	18	19756987	19756987	C	A	GATA6	c.1207C>A	NM_005257.6	NP_005248.2:p.(Arg403=)	NC_000018.9:g.19756987C>A	(Likely) benign	1 lab	b0eb06235a
2:27668232 IFT172 G>A	2	27668232	27668232	G	A	IFT172	c.4999C>T	NM_015662.3	NP_056477.1:p.(Arg1667Cys)	NC_000002.11:g.27668232G>A	VUS	1 lab	b0eb123d92
15:100794362 ADAMTS17 C>A	15	100794362	100794362	C	A	ADAMTS17	c.1054G>T	NM_139057.4	NP_620688.2:p.(Asp352Tyr)	NC_000015.9:g.100794362C>A	VUS	1 lab	b0eca2fa5b
12:49434324 KMT2D C>G	12	49434324	49434324	C	G	KMT2D	c.7229G>C	NM_003482.4	NP_003473.3:p.(Arg2410Pro)	NC_000012.11:g.49434324C>G	(Likely) benign	1 lab	b0ed0c6b4c
12:121426644 HNF1A C>T	12	121426644	121426644	C	T	HNF1A	c.335C>T	NM_000545.8	NP_000536.6:p.(Pro112Leu)	NC_000012.11:g.121426644C>T	(Likely) pathogenic	1 lab	b0ed3647c8
7:158683965 DYNC2I1 G>A	7	158683965	158683965	G	A	DYNC2I1	c.1000G>A	NM_018051.5	NP_060521.4:p.(Glu334Lys)	NC_000007.13:g.158683965G>A	VUS	1 lab	b0edb4e7ff
17:80039654 FASN C>T	17	80039654	80039654	C	T	FASN	c.6229G>A	NM_004104.5	NP_004095.4:p.(Asp2077Asn)	NC_000017.10:g.80039654C>T	VUS	1 lab	b0eea234d6
X:53115140 TSPYL2 C>A	X	53115140	53115140	C	A	TSPYL2	c.1566C>A	NM_022117.4	NP_071400.1:p.(Asn522Lys)	NC_000023.10:g.53115140C>A	(Likely) benign	1 lab	b0eef722b6
18:2673281 SMCHD1 A>G	18	2673281	2673281	A	G	SMCHD1	c.426A>G	NM_015295.3	NP_056110.2:p.(Pro142=)	NC_000018.9:g.2673281A>G	(Likely) benign	1 lab	b0f0825a0d
14:63269244 KCNH5 C>T	14	63269244	63269244	C	T	KCNH5	c.1625G>A	NM_139318.5	NP_647479.2:p.(Arg542Gln)	NC_000014.8:g.63269244C>T	(Likely) benign	1 lab	b0f2733d87
19:18331990 PDE4C T>C	19	18331990	18331990	T	C	PDE4C	c.376-2A>G	NM_001098818.4	NP_001092288.1:p.?	NC_000019.9:g.18331990T>C	VUS	1 lab	b0f2e1629f
4:74124011 ANKRD17 C>CTCG	4	74124011	74124025	C	CTCG	ANKRD17	c.372_374dup	NM_032217.5	NP_115593.3:p.(Asp124dup)	NC_000004.11:g.74124023_74124025dup	(Likely) benign	1 lab	b0f4884068
5:140249064 PCDHA1 A>G	5	140249064	140249064	A	G	PCDHA1	c.2394+80795A>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140249064A>G	VUS	1 lab	b0f720d059
6:33408727 SYNGAP1 T>C	6	33408727	33408727	T	C	SYNGAP1	c.1898T>C	NM_006772.3	NP_006763.2:p.(Leu633Pro)	NC_000006.11:g.33408727T>C	(Likely) pathogenic	1 lab	b0f778d52f
19:56127196 ZNF865 G>A	19	56127196	56127196	G	A	ZNF865	c.2212G>A	NM_001195605.2	NP_001182534.1:p.(Asp738Asn)	NC_000019.9:g.56127196G>A	VUS	1 lab	b0f88945da
4:128627626 INTU AT>A	4	128627626	128627633	AT	A	INTU	c.1789-9del	NM_015693.4	NP_056508.2:p.?	NC_000004.11:g.128627633del	(Likely) benign	1 lab	b0f8cee69a
17:38245465 THRA C>T	17	38245465	38245465	C	T	THRA	c.989C>T	NM_199334.5	NP_955366.1:p.(Ser330Leu)	NC_000017.10:g.38245465C>T	VUS	1 lab	b0fd0eb02d
X:44929077 KDM6A C>T	X	44929077	44929077	C	T	KDM6A	c.2333C>T	NM_001291415.2	NP_001278344.1:p.(Thr778Met)	NC_000023.10:g.44929077C>T	(Likely) benign	1 lab	b0fe70db22
4:995644 IDUA T>C	4	995644	995644	T	C	IDUA	c.767T>C	NM_000203.5	NP_000194.2:p.(Leu256Pro)	NC_000004.11:g.995644T>C	VUS	1 lab	b100d3ef01
18:47455872 MYO5B C>T	18	47455872	47455872	C	T	MYO5B	c.2090+10G>A	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47455872C>T	(Likely) benign	1 lab	b101f022d2
17:1635761 WDR81 C>G	17	1635761	1635761	C	G	WDR81	c.4300C>G	NM_001163809.2	NP_001157281.1:p.(Gln1434Glu)	NC_000017.10:g.1635761C>G	VUS	1 lab	b101f4390c
1:47685566 TAL1 G>GGGGGCC	1	47685566	47685567	G	GGGGGCC	TAL1	c.821_822insGGCCCC	NM_001290403.2	NP_001277332.1:p.(Ala275_Pro276dup)	NC_000001.10:g.47685566_47685567insGGGGCC	VUS	1 lab	b1042b6064
17:3448467 TRPV3 C>T	17	3448467	3448467	C	T	TRPV3	c.218G>A	NM_145068.4	NP_659505.1:p.(Arg73Gln)	NC_000017.10:g.3448467C>T	VUS	1 lab	b1061361a5
2:48701850 PPP1R21 T>C	2	48701850	48701850	T	C	PPP1R21	c.1117T>C	NM_001135629.3	NP_001129101.1:p.(Cys373Arg)	NC_000002.11:g.48701850T>C	VUS	1 lab	b1093153c2
2:44502996 SLC3A1 A>G	2	44502996	44502996	A	G	SLC3A1	c.322A>G	NM_000341.4	NP_000332.2:p.(Ile108Val)	NC_000002.11:g.44502996A>G	VUS	1 lab	b1099c2ac4
8:145007409 PLEC G>A	8	145007409	145007409	G	A	PLEC	c.1374C>T	NM_201384.3	NP_958786.1:p.(Thr458=)	NC_000008.10:g.145007409G>A	VUS	1 lab	b10a833526
22:46760507 CELSR1 C>T	22	46760507	46760507	C	T	CELSR1	c.8681G>A	NM_001378328.1	NP_001365257.1:p.(Arg2894His)	NC_000022.10:g.46760507C>T	(Likely) benign	1 lab	b10adff583
13:25671429 PABPC3 G>T	13	25671429	25671429	G	T	PABPC3	c.1093G>T	NM_030979.3	NP_112241.2:p.(Val365Leu)	NC_000013.10:g.25671429G>T	(Likely) benign	1 lab	b10b3cbc56
15:90209112 PLIN1 G>A	15	90209112	90209112	G	A	PLIN1	c.1271C>T	NM_002666.5	NP_002657.3:p.(Ala424Val)	NC_000015.9:g.90209112G>A	(Likely) benign	1 lab	b10ea39b8e
16:2160211 PKD1 G>A	16	2160211	2160211	G	A	PKD1	c.4957C>T	NM_001009944.3	NP_001009944.3:p.(Gln1653Ter)	NC_000016.9:g.2160211G>A	(Likely) pathogenic	1 lab	b11030fffa
14:74422545 COQ6 A>G	14	74422545	74422545	A	G	COQ6	c.320A>G	NM_182480.2	NP_872286.2:p.(Asp107Gly)	NC_000014.8:g.74422545A>G	(Likely) benign	1 lab	2a9b42410d
2:1890361 MYT1L CA>C	2	1890361	1890362	CA	C	MYT1L	c.2660del	NM_001303052.2	NP_001289981.1:p.(Leu887ArgfsTer53)	NC_000002.11:g.1890362del	(Likely) pathogenic	1 lab	b112dc3a5c
3:156262106 SSR3 T>C	3	156262106	156262106	T	C	SSR3	c.482A>G	NM_007107.5	NP_009038.1:p.(Asn161Ser)	NC_000003.11:g.156262106T>C	(Likely) benign	1 lab	b1157b6d9e
9:133907484 LAMC3 T>C	9	133907484	133907484	T	C	LAMC3	c.731T>C	NM_006059.4	NP_006050.3:p.(Phe244Ser)	NC_000009.11:g.133907484T>C	VUS	1 lab	b118bb94fd
2:145147194 ZEB2 C>A	2	145147194	145147194	C	A	ZEB2	c.3469G>T	NM_014795.4	NP_055610.1:p.(Asp1157Tyr)	NC_000002.11:g.145147194C>A	VUS	1 lab	b11a48b5f5
22:19511520 CLDN5 C>T	22	19511520	19511520	C	T	CLDN5	c.259G>A	NM_001363066.2	NP_001349995.1:p.(Ala87Thr)	NC_000022.10:g.19511520C>T	(Likely) benign	1 lab	b11b428ae5
1:103488299 COL11A1 C>T	1	103488299	103488299	C	T	COL11A1	c.1244G>A	NM_001854.4	NP_001845.3:p.(Ser415Asn)	NC_000001.10:g.103488299C>T	(Likely) benign	1 lab	b11e7d959a
15:76646460 SCAPER G>T	15	76646460	76646460	G	T	SCAPER	c.3877C>A	NM_020843.4	NP_065894.2:p.(His1293Asn)	NC_000015.9:g.76646460G>T	VUS	1 lab	b11f0ba30b
1:161201121 NR1I3 C>T	1	161201121	161201121	C	T	NR1I3	c.692G>A	NM_005122.5	NP_005113.1:p.(Arg231His)	NC_000001.10:g.161201121C>T	(Likely) benign	1 lab	b121eb2ca5
16:2813169 SRRM2 G>T	16	2813169	2813169	G	T	SRRM2	c.2640G>T	NM_016333.4	NP_057417.3:p.(Glu880Asp)	NC_000016.9:g.2813169G>T	VUS	1 lab	b122b0c200
11:107992334 ACAT1 A>G	11	107992334	107992334	A	G	ACAT1	c.1A>G	NM_000019.4	NP_000010.1:p.(Met1?)	NC_000011.9:g.107992334A>G	(Likely) pathogenic	1 lab	b12311448b
11:13716474 FAR1 G>T	11	13716474	13716474	G	T	FAR1	c.162G>T	NM_032228.6	NP_115604.1:p.(Glu54Asp)	NC_000011.9:g.13716474G>T	(Likely) benign	1 lab	b12347ef94
17:29476313 NF1 C>CATAT	17	29476313	29476315	C	CATAT	NF1	c.61-6687_61-6686insTATA	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29476314_29476315insTATA	(Likely) benign	1 lab	b12385bec2
6:21595563 SOX4 CGCCTCGGCCTCCGCCTCCTCGGCA>C	6	21595563	21595601	CGCCTCGGCCTCCGCCTCCTCGGCA	C	SOX4	c.813_836del	NM_003107.3	NP_003098.1:p.(Ser272_Ala279del)	NC_000006.11:g.21595578_21595601del	(Likely) benign	1 lab	b1239ce51e
4:96051098 BMPR1B G>A	4	96051098	96051098	G	A	BMPR1B	c.671G>A	NM_001203.3	NP_001194.1:p.(Arg224His)	NC_000004.11:g.96051098G>A	VUS	1 lab	b123fa568e
1:23408001 KDM1A G>A	1	23408001	23408001	G	A	KDM1A	c.2233G>A	NM_001009999.3	NP_001009999.1:p.(Asp745Asn)	NC_000001.10:g.23408001G>A	(Likely) benign	1 lab	b1248cc5f9
1:201183328 IGFN1 G>A	1	201183328	201183328	G	A	IGFN1	c.8752G>A	NM_001164586.2	NP_001158058.1:p.(Gly2918Ser)	NC_000001.10:g.201183328G>A	(Likely) benign	1 lab	b1248df9ba
5:127624165 FBN2 T>A	5	127624165	127624165	T	A	FBN2	c.6722A>T	NM_001999.4	NP_001990.2:p.(Glu2241Val)	NC_000005.9:g.127624165T>A	VUS	1 lab	b126c321da
X:153925411 GAB3 G>C	X	153925411	153925411	G	C	GAB3	c.1423C>G	NM_001081573.3	NP_001075042.1:p.(Pro475Ala)	NC_000023.10:g.153925411G>C	VUS	1 lab	b127800bf7
12:121416630 HNF1A G>A	12	121416630	121416630	G	A	HNF1A	c.59G>A	NM_000545.8	NP_000536.6:p.(Gly20Glu)	NC_000012.11:g.121416630G>A	(Likely) pathogenic	1 lab	b127d40cb2
13:32911542 BRCA2 T>A	13	32911542	32911542	T	A	BRCA2	c.3050T>A	NM_000059.4	NP_000050.3:p.(Ile1017Asn)	NC_000013.10:g.32911542T>A	VUS	1 lab	b127d6ac8b
19:13397608 CACNA1A C>T	19	13397608	13397608	C	T	CACNA1A	c.3262G>A	NM_001127222.2	NP_001120694.1:p.(Ala1088Thr)	NC_000019.9:g.13397608C>T	VUS	1 lab	b1283ca957
16:2140322 PKD1 C>G	16	2140322	2140322	C	G	PKD1	c.12408G>C	NM_001009944.3	NP_001009944.3:p.(Arg4136Ser)	NC_000016.9:g.2140322C>G	VUS	1 lab	b128b9bd36
1:154202194 UBAP2L C>T	1	154202194	154202194	C	T	UBAP2L	c.279+993C>T	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154202194C>T	(Likely) benign	1 lab	b12a4def8d
3:139093376 COPB2 TG>T	3	139093376	139093378	TG	T	COPB2	c.705del	NM_004766.3	NP_004757.1:p.(Ser236AlafsTer32)	NC_000003.11:g.139093378del	VUS	1 lab	b12a729da8
20:49509021 ADNP CT>C	20	49509021	49509023	CT	C	ADNP	c.2229del	NM_001282531.3	NP_001269460.1:p.(Glu744ArgfsTer9)	NC_000020.10:g.49509023del	(Likely) pathogenic	1 lab	b12bb933cd
8:144874238 SCRIB C>T	8	144874238	144874238	C	T	SCRIB	c.4580G>A	NM_182706.5	NP_874365.3:p.(Arg1527Gln)	NC_000008.10:g.144874238C>T	(Likely) benign	1 lab	b12ca5c3c5
16:30975533 SETD1A G>A	16	30975533	30975533	G	A	SETD1A	c.758G>A	NM_014712.3	NP_055527.1:p.(Arg253Gln)	NC_000016.9:g.30975533G>A	(Likely) benign	1 lab	b12dd4e058
17:15492314 FBXW10B A>G	17	15492314	15492314	A	G	FBXW10B	c.2234T>C	NM_006382.4	NP_006373.2:p.(Met745Thr)	NC_000017.10:g.15492314A>G	(Likely) benign	1 lab	b12e257ff5
X:153599524 FLNA G>GGTC	X	153599524	153599526	G	GGTC	FLNA	c.89_90insGAC	NM_001110556.2	NP_001104026.1:p.(Thr31dup)	NC_000023.10:g.153599525_153599526insTCG	VUS	1 lab	b130662685
2:37295816 HEATR5B A>T	2	37295816	37295816	A	T	HEATR5B	c.1177+8T>A	NM_019024.3	NP_061897.1:p.?	NC_000002.11:g.37295816A>T	(Likely) benign	1 lab	b1319e3679
1:155870264 RIT1 G>A	1	155870264	155870264	G	A	RIT1	c.575C>T	NM_006912.6	NP_008843.1:p.(Ala192Val)	NC_000001.10:g.155870264G>A	VUS	1 lab	b1336610c8
2:54880744 SPTBN1 A>G	2	54880744	54880744	A	G	SPTBN1	c.5578-2A>G	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54880744A>G	VUS	1 lab	b134ba37c9
3:126710399 PLXNA1 G>T	3	126710399	126710399	G	T	PLXNA1	c.1367G>T	NM_032242.4	NP_115618.3:p.(Arg456Leu)	NC_000003.11:g.126710399G>T	VUS	1 lab	b135991fb9
3:111368538 CD96 T>A	3	111368538	111368538	T	A	CD96	c.1602-7T>A	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111368538T>A	(Likely) benign	1 lab	b135d9632e
6:51949730 PKHD1 A>G	6	51949730	51949730	A	G	PKHD1	c.2T>C	NM_138694.4	NP_619639.3:p.(Met1?)	NC_000006.11:g.51949730A>G	VUS	1 lab	b146de6823
6:157218398 ARID1B C>A	6	157218398	157218398	C	A	ARID1B	c.1987-4112C>A	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157218398C>A	(Likely) benign	1 lab	b13829690f
22:17601921 TMEM121B G>C	22	17601921	17601921	G	C	TMEM121B	c.97C>G	NM_031890.4	NP_114096.1:p.(Arg33Gly)	NC_000022.10:g.17601921G>C	(Likely) benign	1 lab	b1399f85d6
X:30327465 NR0B1 G>T	X	30327465	30327465	G	T	NR0B1	c.16C>A	NM_000475.5	NP_000466.2:p.(His6Asn)	NC_000023.10:g.30327465G>T	(Likely) benign	1 lab	b13b1e1580
13:99083421 FARP1 C>A	13	99083421	99083421	C	A	FARP1	c.2030C>A	NM_005766.4	NP_005757.1:p.(Pro677Gln)	NC_000013.10:g.99083421C>A	(Likely) benign	1 lab	b13ba5221f
2:48026437 MSH6 G>A	2	48026437	48026437	G	A	MSH6	c.1315G>A	NM_000179.3	NP_000170.1:p.(Asp439Asn)	NC_000002.11:g.48026437G>A	VUS	1 lab	28dd3e44f6
3:42264712 TRAK1 C>T	3	42264712	42264712	C	T	TRAK1	c.2345C>T	NM_001042646.3	NP_001036111.1:p.(Pro782Leu)	NC_000003.11:g.42264712C>T	VUS	1 lab	b13e61115c
X:136113743 GPR101 C>T	X	136113743	136113743	C	T	GPR101	c.91G>A	NM_054021.2	NP_473362.1:p.(Gly31Ser)	NC_000023.10:g.136113743C>T	(Likely) benign	1 lab	b13fda9a64
6:33756575 LEMD2 TATC>T	6	33756575	33756579	TATC	T	LEMD2	c.316_318del	NM_181336.4	NP_851853.1:p.(Asp106del)	NC_000006.11:g.33756577_33756579del	VUS	1 lab	b1420ca1b0
12:116420956 MED13L T>C	12	116420956	116420956	T	C	MED13L	c.4921A>G	NM_015335.5	NP_056150.1:p.(Ser1641Gly)	NC_000012.11:g.116420956T>C	(Likely) benign	1 lab	b14305606d
16:70551636 COG4 G>T	16	70551636	70551636	G	T	COG4	c.262C>A	NM_015386.3	NP_056201.2:p.(Leu88Met)	NC_000016.9:g.70551636G>T	VUS	1 lab	b1438df6f7
12:80765801 OTOGL T>C	12	80765801	80765801	T	C	OTOGL	c.6738T>C	NM_001378609.3	NP_001365538.2:p.(Asn2246=)	NC_000012.11:g.80765801T>C	(Likely) benign	1 lab	b14523eda0
8:144999559 PLEC G>A	8	144999559	144999559	G	A	PLEC	c.4538C>T	NM_201384.3	NP_958786.1:p.(Ala1513Val)	NC_000008.10:g.144999559G>A	VUS	1 lab	b1462fd548
17:4085528 ANKFY1 G>A	17	4085528	4085528	G	A	ANKFY1	c.2069C>T	NM_001330063.2	NP_001316992.1:p.(Pro690Leu)	NC_000017.10:g.4085528G>A	(Likely) benign	1 lab	b1470907d8
6:32552029 HLA-DRB1 A>T	6	32552029	32552029	A	T	HLA-DRB1	c.227T>A	NM_002124.4	NP_002115.2:p.(Phe76Tyr)	NC_000006.11:g.32552029A>T	(Likely) benign	1 lab	28e5cc6c5c
8:141461189 TRAPPC9 G>A	8	141461189	141461189	G	A	TRAPPC9	c.284C>T	NM_001160372.4	NP_001153844.1:p.(Thr95Ile)	NC_000008.10:g.141461189G>A	VUS	1 lab	b148dfa4b4
3:195507064 MUC4 G>C	3	195507064	195507064	G	C	MUC4	c.11387C>G	NM_018406.7	NP_060876.5:p.(Thr3796Ser)	NC_000003.11:g.195507064G>C	(Likely) benign	1 lab	b149241be2
1:160093165 ATP1A2 G>A	1	160093165	160093165	G	A	ATP1A2	c.340G>A	NM_000702.4	NP_000693.1:p.(Gly114Ser)	NC_000001.10:g.160093165G>A	VUS	1 lab	b149f462c5
7:6022523 PMS2 G>A	7	6022523	6022523	G	A	PMS2	c.2106C>T	NM_000535.7	NP_000526.2:p.(Ala702=)	NC_000007.13:g.6022523G>A	(Likely) benign	1 lab	b14a010221
17:78286952 RNF213 C>T	17	78286952	78286952	C	T	RNF213	c.2796C>T	NM_001256071.3	NP_001243000.2:p.(Tyr932=)	NC_000017.10:g.78286952C>T	VUS	1 lab	b14ad5b3ce
14:20770132 TTC5 G>A	14	20770132	20770132	G	A	TTC5	c.52-8C>T	NM_138376.3	NP_612385.2:p.?	NC_000014.8:g.20770132G>A	(Likely) benign	1 lab	b14c9a2020
11:64694220 PPP2R5B G>A	11	64694220	64694220	G	A	PPP2R5B	c.236G>A	NM_006244.4	NP_006235.1:p.(Arg79Gln)	NC_000011.9:g.64694220G>A	(Likely) benign	1 lab	b14dc0b767
20:31374366 DNMT3B G>A	20	31374366	31374366	G	A	DNMT3B	c.365G>A	NM_006892.4	NP_008823.1:p.(Arg122His)	NC_000020.10:g.31374366G>A	VUS	1 lab	b151a7a0ee
11:67168308 PPP1CA C>T	11	67168308	67168308	C	T	PPP1CA	c.270G>A	NM_002708.4	NP_002699.1:p.(Leu90=)	NC_000011.9:g.67168308C>T	(Likely) benign	1 lab	b151ebecbe
19:20727417 ZNF737 T>C	19	20727417	20727417	T	C	ZNF737	c.1592A>G	NM_001159293.2	NP_001152765.1:p.(His531Arg)	NC_000019.9:g.20727417T>C	VUS	1 lab	b1527f1878
X:153219669 HCFC1 G>A	X	153219669	153219669	G	A	HCFC1	c.4181C>T	NM_005334.3	NP_005325.2:p.(Ala1394Val)	NC_000023.10:g.153219669G>A	VUS	1 lab	b153c6d249
17:80790178 TBCD GT>G	17	80790178	80790183	GT	G	TBCD	c.1318+17373del	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80790183del	VUS	1 lab	b154256e75
14:51224761 NIN G>A	14	51224761	51224761	G	A	NIN	c.2987C>T	NM_020921.4	NP_065972.4:p.(Ala996Val)	NC_000014.8:g.51224761G>A	(Likely) benign	1 lab	b154f9c84e
17:40370788 STAT5B G>A	17	40370788	40370788	G	A	STAT5B	c.942C>T	NM_012448.4	NP_036580.2:p.(Ala314=)	NC_000017.10:g.40370788G>A	(Likely) benign	1 lab	b15535c22e
18:31318924 ASXL3 TAGAAGGGA>T	18	31318924	31318934	TAGAAGGGA	T	ASXL3	c.1559_1566del	NM_030632.3	NP_085135.1:p.(Glu520ValfsTer19)	NC_000018.9:g.31318927_31318934del	(Likely) pathogenic	1 lab	28e604029a
18:60582148 PHLPP1 A>G	18	60582148	60582148	A	G	PHLPP1	c.2711A>G	NM_194449.4	NP_919431.2:p.(Asn904Ser)	NC_000018.9:g.60582148A>G	VUS	1 lab	b157cfb7d2
2:219920518 IHH G>A	2	219920518	219920518	G	A	IHH	c.647C>T	NM_002181.4	NP_002172.2:p.(Ala216Val)	NC_000002.11:g.219920518G>A	(Likely) benign	1 lab	b15a169700
2:44539882 SLC3A1 G>C	2	44539882	44539882	G	C	SLC3A1	c.1490G>C	NM_000341.4	NP_000332.2:p.(Ser497Thr)	NC_000002.11:g.44539882G>C	(Likely) benign	1 lab	b15be3219c
X:107408604 COL4A6 T>A	X	107408604	107408604	T	A	COL4A6	c.3804A>T	NM_033641.4	NP_378667.1:p.(Glu1268Asp)	NC_000023.10:g.107408604T>A	VUS	1 lab	b15be7cdee
6:74346404 SLC17A5 G>T	6	74346404	74346404	G	T	SLC17A5	c.640C>A	NM_012434.5	NP_036566.1:p.(Leu214Ile)	NC_000006.11:g.74346404G>T	VUS	1 lab	b15c57ae83
22:50900382 SBF1 C>A	22	50900382	50900382	C	A	SBF1	c.2563G>T	NM_002972.4	NP_002963.2:p.(Val855Leu)	NC_000022.10:g.50900382C>A	VUS	1 lab	b15d88b9e0
20:469318 CSNK2A1 T>C	20	469318	469318	T	C	CSNK2A1	c.824+4A>G	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.469318T>C	VUS	1 lab	b15fb959e7
5:13913953 DNAH5 G>A	5	13913953	13913953	G	A	DNAH5	c.1435C>T	NM_001369.3	NP_001360.1:p.(Arg479Cys)	NC_000005.9:g.13913953G>A	VUS	1 lab	b1616f030b
2:220435204 OBSL1 C>A	2	220435204	220435204	C	A	OBSL1	c.751G>T	NM_015311.3	NP_056126.1:p.(Ala251Ser)	NC_000002.11:g.220435204C>A	(Likely) benign	1 lab	b1618bd724
16:1268383 CACNA1H T>A	16	1268383	1268383	T	A	CACNA1H	c.5619T>A	NM_021098.3	NP_066921.2:p.(Asp1873Glu)	NC_000016.9:g.1268383T>A	VUS	1 lab	b161a6c344
4:16193055 TAPT1 A>T	4	16193055	16193055	A	T	TAPT1	c.541T>A	NM_153365.3	NP_699196.2:p.(Tyr181Asn)	NC_000004.11:g.16193055A>T	VUS	1 lab	b162accb3a
6:117244352 RFX6 T>C	6	117244352	117244352	T	C	RFX6	c.1520T>C	NM_173560.4	NP_775831.2:p.(Met507Thr)	NC_000006.11:g.117244352T>C	VUS	1 lab	b166db35b0
1:21936640 RAP1GAP G>A	1	21936640	21936640	G	A	RAP1GAP	c.972C>T	NM_002885.4	NP_002876.2:p.(Gly324=)	NC_000001.10:g.21936640G>A	VUS	1 lab	b167211c75
1:202699043 KDM5B A>G	1	202699043	202699043	A	G	KDM5B	c.4289T>C	NM_006618.5	NP_006609.3:p.(Met1430Thr)	NC_000001.10:g.202699043A>G	(Likely) benign	1 lab	b167529f26
8:27645516 ESCO2 C>G	8	27645516	27645516	C	G	ESCO2	c.1128C>G	NM_001017420.3	NP_001017420.1:p.(Ile376Met)	NC_000008.10:g.27645516C>G	(Likely) benign	1 lab	b167f19065
16:2161303 PKD1 C>T	16	2161303	2161303	C	T	PKD1	c.3865G>A	NM_001009944.3	NP_001009944.3:p.(Val1289Met)	NC_000016.9:g.2161303C>T	VUS	1 lab	b16815816f
9:14797542 FREM1 A>C	9	14797542	14797542	A	C	FREM1	c.3793T>G	NM_001379081.2	NP_001366010.1:p.(Ser1265Ala)	NC_000009.11:g.14797542A>C	(Likely) benign	1 lab	b168210f55
10:89473070 PAPSS2 A>T	10	89473070	89473070	A	T	PAPSS2	c.381+3A>T	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473070A>T	(Likely) benign	1 lab	b168e9c7f6
2:240037011 HDAC4 A>G	2	240037011	240037011	A	G	HDAC4	c.1534-5T>C	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240037011A>G	(Likely) benign	1 lab	b16ad8c2e8
2:232225494 ARMC9 G>A	2	232225494	232225494	G	A	ARMC9	c.2160G>A	NM_001352754.2	NP_001339683.2:p.(Trp720Ter)	NC_000002.11:g.232225494G>A	(Likely) pathogenic	1 lab	b16e391c49
11:118630923 DDX6 G>C	11	118630923	118630923	G	C	DDX6	c.742-170C>G	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118630923G>C	(Likely) benign	1 lab	b16ecaf484
8:144999517 PLEC G>A	8	144999517	144999517	G	A	PLEC	c.4580C>T	NM_201384.3	NP_958786.1:p.(Ala1527Val)	NC_000008.10:g.144999517G>A	VUS	1 lab	b1703b23dc
16:69184573 UTP4 G>A	16	69184573	69184573	G	A	UTP4	c.872G>A	NM_032830.3	NP_116219.2:p.(Arg291His)	NC_000016.9:g.69184573G>A	VUS	1 lab	b174e54e2e
2:233396169 CHRND G>A	2	233396169	233396169	G	A	CHRND	c.928G>A	NM_000751.3	NP_000742.1:p.(Gly310Ser)	NC_000002.11:g.233396169G>A	VUS	1 lab	b18082957f
20:47592666 ARFGEF2 G>A	20	47592666	47592666	G	A	ARFGEF2	c.1888G>A	NM_006420.3	NP_006411.2:p.(Val630Ile)	NC_000020.10:g.47592666G>A	(Likely) benign	1 lab	28ecbb58f7
11:17435031 ABCC8 G>A	11	17435031	17435031	G	A	ABCC8	c.2391-6C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17435031G>A	(Likely) benign	1 lab	b177f69e1e
16:2162354 PKD1 G>GGTGT	16	2162354	2162359	G	GGTGT	PKD1	c.3278_3281dup	NM_001009944.3	NP_001009944.3:p.(Tyr1095HisfsTer7)	NC_000016.9:g.2162356_2162359dup	(Likely) pathogenic	1 lab	b178cf9b5e
7:72743403 FKBP6 C>T	7	72743403	72743403	C	T	FKBP6	c.216C>T	NM_003602.5	NP_003593.3:p.(Phe72=)	NC_000007.13:g.72743403C>T	(Likely) benign	1 lab	b17c2c5ac8
5:127729055 FBN2 T>C	5	127729055	127729055	T	C	FBN2	c.1238A>G	NM_001999.4	NP_001990.2:p.(Tyr413Cys)	NC_000005.9:g.127729055T>C	VUS	1 lab	b17cf31bb1
1:162748430 DDR2 A>G	1	162748430	162748430	A	G	DDR2	c.2344A>G	NM_006182.4	NP_006173.2:p.(Thr782Ala)	NC_000001.10:g.162748430A>G	VUS	1 lab	b17d6d0e4b
1:162735785 DDR2 T>C	1	162735785	162735785	T	C	DDR2	c.1100-6T>C	NM_006182.4	NP_006173.2:p.?	NC_000001.10:g.162735785T>C	(Likely) benign	1 lab	b17ddcb253
22:25601314 CRYBB3 G>A	22	25601314	25601314	G	A	CRYBB3	c.455G>A	NM_004076.5	NP_004067.1:p.(Arg152His)	NC_000022.10:g.25601314G>A	VUS	1 lab	b17f3f4497
1:173795869 DARS2 C>G	1	173795869	173795869	C	G	DARS2	c.172C>G	NM_018122.5	NP_060592.2:p.(Arg58Gly)	NC_000001.10:g.173795869C>G	(Likely) pathogenic	1 lab	b17f40220d
X:7811759 VCX C>T	X	7811759	7811759	C	T	VCX	c.323C>T	NM_001393662.1	NP_001380591.1:p.(Ala108Val)	NC_000023.10:g.7811759C>T	VUS	1 lab	b17fc24a8c
1:158624455 SPTA1 T>C	1	158624455	158624455	T	C	SPTA1	c.2982A>G	NM_003126.3	NP_003117.2:p.(Arg994=)	NC_000001.10:g.158624455T>C	(Likely) benign	1 lab	2aa60eab5b
18:42531403 SETBP1 C>T	18	42531403	42531403	C	T	SETBP1	c.2098C>T	NM_015559.3	NP_056374.2:p.(Pro700Ser)	NC_000018.9:g.42531403C>T	(Likely) benign	1 lab	b184cac20a
X:153994679 DKC1 T>C	X	153994679	153994679	T	C	DKC1	c.448+4T>C	NM_001363.5	NP_001354.1:p.?	NC_000023.10:g.153994679T>C	(Likely) benign	1 lab	b185855710
1:120299971 HMGCS2 C>A	1	120299971	120299971	C	A	HMGCS2	c.941G>T	NM_005518.4	NP_005509.1:p.(Arg314Leu)	NC_000001.10:g.120299971C>A	VUS	1 lab	b18696e146
6:167595271 MISSING T>A	6	167595271	167595271	T	A	MISSING				NC_000006.11:g.167595271T>A	(Likely) benign	1 lab	b186dca09a
17:7754993 KDM6B G>A	17	7754993	7754993	G	A	KDM6B	c.4044G>A	NM_001080424.2	NP_001073893.1:p.(Leu1348=)	NC_000017.10:g.7754993G>A	(Likely) benign	1 lab	28ed46bd4c
19:3980956 EEF2 G>A	19	3980956	3980956	G	A	EEF2	c.1033C>T	NM_001961.4	NP_001952.1:p.(Pro345Ser)	NC_000019.9:g.3980956G>A	VUS	1 lab	b1880e6466
20:19955596 RIN2 CAG>C	20	19955596	19955598	CAG	C	RIN2	c.928_929del	NM_018993.4	NP_061866.1:p.(Arg310AlafsTer7)	NC_000020.10:g.19955597_19955598del	(Likely) benign	1 lab	b18852417f
8:94792831 TMEM67 A>G	8	94792831	94792831	A	G	TMEM67	c.725A>G	NM_153704.6	NP_714915.3:p.(Asn242Ser)	NC_000008.10:g.94792831A>G	(Likely) pathogenic	1 lab	b188ac1a2e
7:139575408 TBXAS1 C>T	7	139575408	139575408	C	T	TBXAS1	c.208C>T	NM_001061.7	NP_001052.3:p.(Leu70Phe)	NC_000007.13:g.139575408C>T	(Likely) benign	1 lab	b189526e77
9:140000777 MAN1B1 G>A	9	140000777	140000777	G	A	MAN1B1	c.1445+10G>A	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.140000777G>A	(Likely) benign	1 lab	b1899bcea2
12:2719827 CACNA1C G>A	12	2719827	2719827	G	A	CACNA1C	c.3679G>A	NM_000719.7	NP_000710.5:p.(Val1227Ile)	NC_000012.11:g.2719827G>A	VUS	1 lab	b18a11867f
X:21627441 CNKSR2 A>G	X	21627441	21627441	A	G	CNKSR2	c.2398A>G	NM_014927.5	NP_055742.2:p.(Ile800Val)	NC_000023.10:g.21627441A>G	(Likely) benign	1 lab	b18ac760eb
14:50697963 SOS2 C>T	14	50697963	50697963	C	T	SOS2	c.39G>A	NM_006939.4	NP_008870.2:p.(Glu13=)	NC_000014.8:g.50697963C>T	(Likely) benign	1 lab	b18c309bdf
7:91700244 AKAP9 C>T	7	91700244	91700244	C	T	AKAP9	c.6533C>T	NM_005751.5	NP_005742.4:p.(Ala2178Val)	NC_000007.13:g.91700244C>T	(Likely) benign	1 lab	b18c6e6e30
21:34932410 SON G>T	21	34932410	34932410	G	T	SON	c.6657+329G>T	NM_138927.4	NP_620305.3:p.?	NC_000021.8:g.34932410G>T	(Likely) benign	1 lab	b18cbcf35a
17:74383638 SPHK1 C>T	17	74383638	74383638	C	T	SPHK1	c.1126C>T	NM_001142601.2	NP_001136073.1:p.(Gln376Ter)	NC_000017.10:g.74383638C>T	VUS	1 lab	b18e7a3f8a
1:201178451 IGFN1 G>T	1	201178451	201178451	G	T	IGFN1	c.4430G>T	NM_001164586.2	NP_001158058.1:p.(Gly1477Val)	NC_000001.10:g.201178451G>T	VUS	1 lab	b18f612cfa
11:57575684 CTNND1 C>CT	11	57575684	57575686	C	CT	CTNND1	c.2013dup	NM_001085458.2	NP_001078927.1:p.(Leu672SerfsTer2)	NC_000011.9:g.57575686dup	(Likely) pathogenic	1 lab	b19176a94d
21:34925594 SON G>C	21	34925594	34925594	G	C	SON	c.4057G>C	NM_032195.3	NP_115571.3:p.(Glu1353Gln)	NC_000021.8:g.34925594G>C	VUS	1 lab	28f058e375
1:236758926 HEATR1 T>C	1	236758926	236758926	T	C	HEATR1	c.1004A>G	NM_018072.6	NP_060542.4:p.(His335Arg)	NC_000001.10:g.236758926T>C	(Likely) benign	1 lab	b192784c1a
14:74727452 VSX2 A>G	14	74727452	74727452	A	G	VSX2	c.916A>G	NM_182894.3	NP_878314.1:p.(Ile306Val)	NC_000014.8:g.74727452A>G	VUS	1 lab	b19284ca38
10:61835772 ANK3 G>A	10	61835772	61835772	G	A	ANK3	c.4867C>T	NM_020987.5	NP_066267.2:p.(Arg1623Ter)	NC_000010.10:g.61835772G>A	(Likely) pathogenic	1 lab	b193877186
22:50303530 ALG12 T>C	22	50303530	50303530	T	C	ALG12	c.664+12A>G	NM_024105.4	NP_077010.1:p.?	NC_000022.10:g.50303530T>C	(Likely) benign	1 lab	28f35ef168
2:37469843 NDUFAF7 AGG>A	2	37469843	37469849	AGG	A	NDUFAF7	c.681+12_681+13del	NM_144736.5	NP_653337.1:p.?	NC_000002.11:g.37469848_37469849del	(Likely) benign	1 lab	b195294a35
X:35820968 MAGEB16 C>G	X	35820968	35820968	C	G	MAGEB16	c.655C>G	NM_001370158.1	NP_001357087.1:p.(Arg219Gly)	NC_000023.10:g.35820968C>G	(Likely) benign	1 lab	b19562fc0e
5:180377050 BTNL8 C>T	5	180377050	180377050	C	T	BTNL8	c.1009C>T	NM_001040462.3	NP_001035552.1:p.(Gln337Ter)	NC_000005.9:g.180377050C>T	VUS	1 lab	b1958960a6
20:42142642 L3MBTL1 A>G	20	42142642	42142642	A	G	L3MBTL1	c.301A>G	NM_001377303.1	NP_001364232.1:p.(Thr101Ala)	NC_000020.10:g.42142642A>G	(Likely) benign	1 lab	b196467d56
9:14804975 FREM1 G>C	9	14804975	14804975	G	C	FREM1	c.3450C>G	NM_001379081.2	NP_001366010.1:p.(Asp1150Glu)	NC_000009.11:g.14804975G>C	(Likely) benign	1 lab	b1999c223f
17:8053916 PER1 G>A	17	8053916	8053916	G	A	PER1	c.109C>T	NM_002616.3	NP_002607.2:p.(Pro37Ser)	NC_000017.10:g.8053916G>A	(Likely) benign	1 lab	b19a871e38
16:1251871 CACNA1H G>C	16	1251871	1251871	G	C	CACNA1H	c.1421G>C	NM_021098.3	NP_066921.2:p.(Arg474Pro)	NC_000016.9:g.1251871G>C	VUS	1 lab	b19aa2655c
11:64419085 NRXN2 G>A	11	64419085	64419085	G	A	NRXN2	c.2560C>T	NM_015080.4	NP_055895.1:p.(Arg854Trp)	NC_000011.9:g.64419085G>A	VUS	1 lab	b19abafbdb
14:39517921 SEC23A C>T	14	39517921	39517921	C	T	SEC23A	c.1672G>A	NM_006364.4	NP_006355.2:p.(Gly558Arg)	NC_000014.8:g.39517921C>T	VUS	1 lab	b19b66c1cd
14:57075976 TMEM260 C>T	14	57075976	57075976	C	T	TMEM260	c.789C>T	NM_017799.4	NP_060269.3:p.(Leu263=)	NC_000014.8:g.57075976C>T	(Likely) benign	1 lab	b19b93ff00
2:152420121 NEB G>A	2	152420121	152420121	G	A	NEB	c.18692C>T	NM_001164508.2	NP_001157980.2:p.(Ala6231Val)	NC_000002.11:g.152420121G>A	(Likely) benign	1 lab	b1a16aebf3
13:61141767 TDRD3 C>T	13	61141767	61141767	C	T	TDRD3	c.2227C>T	NM_001146070.2	NP_001139542.1:p.(Arg743Trp)	NC_000013.10:g.61141767C>T	VUS	1 lab	b1a18418c7
17:11696954 DNAH9 G>C	17	11696954	11696954	G	C	DNAH9	c.8196G>C	NM_001372.4	NP_001363.2:p.(Gln2732His)	NC_000017.10:g.11696954G>C	(Likely) benign	1 lab	b1a19650aa
5:71482528 MAP1B C>T	5	71482528	71482528	C	T	MAP1B	c.457C>T	NM_005909.5	NP_005900.2:p.(Gln153Ter)	NC_000005.9:g.71482528C>T	VUS	1 lab	b1c23ff54f
2:152354774 NEB C>G	2	152354774	152354774	C	G	NEB	c.24207G>C	NM_001164508.2	NP_001157980.2:p.(Ser8069=)	NC_000002.11:g.152354774C>G	VUS	1 lab	b1a1f91de1
15:41222276 DLL4 C>G	15	41222276	41222276	C	G	DLL4	c.298C>G	NM_019074.4	NP_061947.1:p.(Arg100Gly)	NC_000015.9:g.41222276C>G	VUS	1 lab	b1a2ad6da9
16:15853518 MYH11 C>T	16	15853518	15853518	C	T	MYH11	c.1316G>A	NM_002474.3	NP_002465.1:p.(Arg439His)	NC_000016.9:g.15853518C>T	VUS	1 lab	b1a448e2af
20:43031225 HNF4A G>A	20	43031225	43031225	G	A	HNF4A	c.115+1098G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43031225G>A	(Likely) benign	1 lab	b1a4cd05b8
21:47570313 FTCD G>A	21	47570313	47570313	G	A	FTCD	c.763C>T	NM_206965.2	NP_996848.1:p.(Arg255Ter)	NC_000021.8:g.47570313G>A	(Likely) pathogenic	1 lab	b1a5725287
15:82422787 EFL1 C>T	15	82422787	82422787	C	T	EFL1	c.3290G>A	NM_024580.6	NP_078856.4:p.(Arg1097Gln)	NC_000015.9:g.82422787C>T	(Likely) pathogenic	1 lab	b1a6b469fe
17:40688582 NAGLU G>A	17	40688582	40688582	G	A	NAGLU	c.292G>A	NM_000263.4	NP_000254.2:p.(Gly98Ser)	NC_000017.10:g.40688582G>A	VUS	1 lab	b1a6d80fa8
19:41073709 SPTBN4 C>T	19	41073709	41073709	C	T	SPTBN4	c.6477C>T	NM_020971.3	NP_066022.2:p.(Pro2159=)	NC_000019.9:g.41073709C>T	(Likely) benign	1 lab	b1a6f609ef
16:30715593 SRCAP A>G	16	30715593	30715593	A	G	SRCAP	c.263A>G	NM_006662.3	NP_006653.2:p.(Lys88Arg)	NC_000016.9:g.30715593A>G	VUS	1 lab	b1ac69e8bb
15:38643791 SPRED1 G>A	15	38643791	38643791	G	A	SPRED1	c.1261G>A	NM_152594.3	NP_689807.1:p.(Val421Ile)	NC_000015.9:g.38643791G>A	(Likely) benign	1 lab	b1ad1fc90a
2:173349555 ITGA6 G>T	2	173349555	173349555	G	T	ITGA6	c.1595G>T	NM_000210.4	NP_000201.2:p.(Gly532Val)	NC_000002.11:g.173349555G>T	VUS	1 lab	b1ad462dc1
3:126214943 UROC1 A>G	3	126214943	126214943	A	G	UROC1	c.1447T>C	NM_144639.3	NP_653240.1:p.(Ser483Pro)	NC_000003.11:g.126214943A>G	(Likely) benign	1 lab	b1b118e85f
16:2152273 PKD1 C>T	16	2152273	2152273	C	T	PKD1	c.9202-16G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152273C>T	(Likely) pathogenic	1 lab	b1b1506789
8:126091066 WASHC5 C>T	8	126091066	126091066	C	T	WASHC5	c.625G>A	NM_014846.4	NP_055661.3:p.(Glu209Lys)	NC_000008.10:g.126091066C>T	(Likely) benign	1 lab	b1b1c05048
8:55055311 MRPL15 T>G	8	55055311	55055311	T	G	MRPL15	c.518T>G	NM_014175.4	NP_054894.1:p.(Val173Gly)	NC_000008.10:g.55055311T>G	VUS	1 lab	b1b264f0e3
18:42533123 SETBP1 C>T	18	42533123	42533123	C	T	SETBP1	c.3818C>T	NM_015559.3	NP_056374.2:p.(Thr1273Met)	NC_000018.9:g.42533123C>T	VUS	1 lab	b1b2e2b7db
11:6644280 DCHS1 G>T	11	6644280	6644280	G	T	DCHS1	c.8627C>A	NM_003737.4	NP_003728.1:p.(Ala2876Glu)	NC_000011.9:g.6644280G>T	(Likely) benign	1 lab	b1b509af6d
16:88873885 CDT1 G>A	16	88873885	88873885	G	A	CDT1	c.1472G>A	NM_030928.4	NP_112190.2:p.(Ser491Asn)	NC_000016.9:g.88873885G>A	VUS	1 lab	b1b675904e
X:51645037 MAGED1 A>G	X	51645037	51645037	A	G	MAGED1	c.*8+3A>G	NM_006986.4	NP_008917.3:p.?	NC_000023.10:g.51645037A>G	(Likely) benign	1 lab	b1b7c86660
3:50339641 HYAL1 G>A	3	50339641	50339641	G	A	HYAL1	c.747C>T	NM_033159.4	NP_149349.2:p.(Pro249=)	NC_000003.11:g.50339641G>A	(Likely) benign	1 lab	b1b828b3be
14:76091097 FLVCR2 T>G	14	76091097	76091097	T	G	FLVCR2	c.952+2T>G	NM_017791.3	NP_060261.2:p.?	NC_000014.8:g.76091097T>G	VUS	1 lab	b1b85202ea
1:22188281 HSPG2 C>T	1	22188281	22188281	C	T	HSPG2	c.4924G>A	NM_005529.7	NP_005520.4:p.(Glu1642Lys)	NC_000001.10:g.22188281C>T	(Likely) benign	1 lab	b1ba0d24a6
15:90195987 KIF7 C>G	15	90195987	90195987	C	G	KIF7	c.175G>C	NM_198525.3	NP_940927.2:p.(Val59Leu)	NC_000015.9:g.90195987C>G	(Likely) benign	1 lab	b1bbefff25
6:49415376 MMUT T>C	6	49415376	49415376	T	C	MMUT	c.1560+7A>G	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49415376T>C	(Likely) benign	1 lab	b1bc165442
3:128628931 CFAP92 C>T	3	128628931	128628931	C	T	CFAP92	c.*211G>A	NM_001394090.1	NP_001381019.1:p.?	NC_000003.11:g.128628931C>T	VUS	1 lab	b1bd2d0301
12:49392226 DDN G>A	12	49392226	49392226	G	A	DDN	c.433C>T	NM_015086.2	NP_055901.2:p.(Pro145Ser)	NC_000012.11:g.49392226G>A	(Likely) benign	1 lab	b1bd72ddbe
19:38939091 RYR1 G>A	19	38939091	38939091	G	A	RYR1	c.897G>A	NM_000540.3	NP_000531.2:p.(Val299=)	NC_000019.9:g.38939091G>A	(Likely) benign	1 lab	b1be071da3
5:112102976 APC C>G	5	112102976	112102976	C	G	APC	c.311C>G	NM_000038.6	NP_000029.2:p.(Ser104Ter)	NC_000005.9:g.112102976C>G	(Likely) pathogenic	1 lab	b1be6c8169
16:14029554 ERCC4 C>T	16	14029554	14029554	C	T	ERCC4	c.1765C>T	NM_005236.3	NP_005227.1:p.(Arg589Trp)	NC_000016.9:g.14029554C>T	(Likely) pathogenic	1 lab	b1bf7b62f4
4:47625703 CORIN G>A	4	47625703	47625703	G	A	CORIN	c.2425C>T	NM_006587.4	NP_006578.2:p.(Arg809Cys)	NC_000004.11:g.47625703G>A	VUS	1 lab	b1c1036f44
11:118923544 HYOU1 G>A	11	118923544	118923544	G	A	HYOU1	c.795-3C>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118923544G>A	(Likely) benign	1 lab	2aa981976d
18:33750046 ELP2 C>T	18	33750046	33750046	C	T	ELP2	c.2292C>T	NM_001242875.3	NP_001229804.1:p.(Cys764=)	NC_000018.9:g.33750046C>T	(Likely) benign	1 lab	da60c70375
8:144417004 TOP1MT G>A	8	144417004	144417004	G	A	TOP1MT	c.28C>T	NM_052963.3	NP_443195.1:p.(Arg10Trp)	NC_000008.10:g.144417004G>A	(Likely) benign	1 lab	b1c3d20269
1:2411280 PLCH2 G>A	1	2411280	2411280	G	A	PLCH2	c.379G>A	NM_014638.4	NP_055453.2:p.(Gly127Ser)	NC_000001.10:g.2411280G>A	VUS	1 lab	b1c3ecab10
6:10404972 TFAP2A C>T	6	10404972	10404972	C	T	TFAP2A	c.539G>A	NM_001372066.1	NP_001358995.1:p.(Gly180Asp)	NC_000006.11:g.10404972C>T	VUS	1 lab	b1c3eed0fe
17:18155332 FLII G>A	17	18155332	18155332	G	A	FLII	c.1194C>T	NM_001256264.2	NP_001243193.1:p.(Thr398=)	NC_000017.10:g.18155332G>A	(Likely) benign	1 lab	2aab8c3d59
2:175614905 CHRNA1 G>A	2	175614905	175614905	G	A	CHRNA1	c.779-8C>T	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175614905G>A	(Likely) benign	1 lab	b1c4abdf71
2:152382759 NEB T>C	2	152382759	152382759	T	C	NEB	c.21963A>G	NM_001164508.2	NP_001157980.2:p.(Lys7321=)	NC_000002.11:g.152382759T>C	(Likely) benign	1 lab	b1c5ea7c80
11:6648317 DCHS1 T>C	11	6648317	6648317	T	C	DCHS1	c.5953A>G	NM_003737.4	NP_003728.1:p.(Thr1985Ala)	NC_000011.9:g.6648317T>C	VUS	1 lab	b1c6463bbc
8:27327369 CHRNA2 C>T	8	27327369	27327369	C	T	CHRNA2	c.203G>A	NM_000742.4	NP_000733.2:p.(Arg68Gln)	NC_000008.10:g.27327369C>T	(Likely) benign	1 lab	b1c920ed31
7:123302302 LMOD2 T>C	7	123302302	123302302	T	C	LMOD2	c.662T>C	NM_207163.3	NP_997046.1:p.(Ile221Thr)	NC_000007.13:g.123302302T>C	(Likely) benign	1 lab	3302ab26da
4:72205150 SLC4A4 C>A	4	72205150	72205150	C	A	SLC4A4	c.317C>A	NM_001098484.3	NP_001091954.1:p.(Pro106His)	NC_000004.11:g.72205150C>A	VUS	1 lab	b1cbb242b1
16:3808937 CREBBP G>A	16	3808937	3808937	G	A	CREBBP	c.3287C>T	NM_004380.3	NP_004371.2:p.(Pro1096Leu)	NC_000016.9:g.3808937G>A	VUS	1 lab	b1cbcb38fa
6:112382393 CCN6 G>A	6	112382393	112382393	G	A	CCN6	c.248G>A	NM_198239.2	NP_937882.2:p.(Gly83Glu)	NC_000006.11:g.112382393G>A	(Likely) benign	1 lab	b1cbd03430
15:34080499 RYR3 A>C	15	34080499	34080499	A	C	RYR3	c.9670A>C	NM_001036.6	NP_001027.3:p.(Lys3224Gln)	NC_000015.9:g.34080499A>C	(Likely) benign	1 lab	b1cbf27257
21:44492088 CBS G>T	21	44492088	44492088	G	T	CBS	c.209+7C>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44492088G>T	VUS	1 lab	b1cc7f6139
16:50104089 HEATR3 T>C	16	50104089	50104089	T	C	HEATR3	c.400T>C	NM_182922.4	NP_891552.1:p.(Cys134Arg)	NC_000016.9:g.50104089T>C	(Likely) pathogenic	1 lab	da615282cf
16:89350610 ANKRD11 ATTC>A	16	89350610	89350620	ATTC	A	ANKRD11	c.2337_2339del	NM_013275.6	NP_037407.4:p.(Lys779del)	NC_000016.9:g.89350618_89350620del	VUS	1 lab	b1cce0b553
5:149740772 TCOF1 A>G	5	149740772	149740772	A	G	TCOF1	c.162A>G	NM_001371623.1	NP_001358552.1:p.(Gln54=)	NC_000005.9:g.149740772A>G	(Likely) benign	1 lab	b1cd297164
15:34544382 SLC12A6 C>T	15	34544382	34544382	C	T	SLC12A6	c.1322G>A	NM_001365088.1	NP_001352017.1:p.(Gly441Asp)	NC_000015.9:g.34544382C>T	VUS	1 lab	b1d24704e4
6:29641397 ZFP57 C>T	6	29641397	29641397	C	T	ZFP57	c.491G>A	NM_001109809.5	NP_001103279.2:p.(Arg164Gln)	NC_000006.11:g.29641397C>T	(Likely) benign	1 lab	b1d3c52713
X:32360221 DMD T>G	X	32360221	32360221	T	G	DMD	c.5918A>C	NM_004006.3	NP_003997.2:p.(Gln1973Pro)	NC_000023.10:g.32360221T>G	VUS	1 lab	b1d5c23dcb
19:19749032 GMIP G>T	19	19749032	19749032	G	T	GMIP	c.725C>A	NM_016573.4	NP_057657.2:p.(Ala242Asp)	NC_000019.9:g.19749032G>T	VUS	1 lab	b1d891d26f
21:44840202 SIK1 T>G	21	44840202	44840202	T	G	SIK1	c.884A>C	NM_173354.5	NP_775490.2:p.(His295Pro)	NC_000021.8:g.44840202T>G	(Likely) benign	1 lab	b1d8dbea22
16:30734476 SRCAP G>A	16	30734476	30734476	G	A	SRCAP	c.4085G>A	NM_006662.3	NP_006653.2:p.(Arg1362Gln)	NC_000016.9:g.30734476G>A	(Likely) benign	1 lab	b1d9394955
8:6478987 MCPH1 G>A	8	6478987	6478987	G	A	MCPH1	c.2227G>A	NM_024596.5	NP_078872.3:p.(Glu743Lys)	NC_000008.10:g.6478987G>A	(Likely) benign	1 lab	b1dbbcec8b
22:30782602 RNF215 C>A	22	30782602	30782602	C	A	RNF215	c.429+3G>T	NM_001017981.2	NP_001017981.1:p.?	NC_000022.10:g.30782602C>A	VUS	1 lab	b1dcc652ef
1:154227292 UBAP2L GT>G	1	154227292	154227306	GT	G	UBAP2L	c.1855-6del	NM_014847.4	NP_055662.3:p.?	NC_000001.10:g.154227306del	(Likely) benign	1 lab	b1dd776af5
11:71174500 NADSYN1 C>T	11	71174500	71174500	C	T	NADSYN1	c.286C>T	NM_018161.5	NP_060631.2:p.(Arg96Cys)	NC_000011.9:g.71174500C>T	VUS	1 lab	b1df119c6b
9:136584082 SARDH G>A	9	136584082	136584082	G	A	SARDH	c.998C>T	NM_001134707.2	NP_001128179.1:p.(Ala333Val)	NC_000009.11:g.136584082G>A	(Likely) benign	1 lab	b1e08e3a64
3:160000407 IFT80 A>T	3	160000407	160000407	A	T	IFT80	c.1381-6T>A	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.160000407A>T	VUS	1 lab	b1e2361d3a
19:623549 POLRMT G>A	19	623549	623549	G	A	POLRMT	c.1195C>T	NM_005035.4	NP_005026.3:p.(Leu399Phe)	NC_000019.9:g.623549G>A	VUS	1 lab	b1e4ad1453
17:1628699 WDR81 A>T	17	1628699	1628699	A	T	WDR81	c.446A>T	NM_001163809.2	NP_001157281.1:p.(Asn149Ile)	NC_000017.10:g.1628699A>T	VUS	1 lab	b1e4f45474
19:14029012 CC2D1A G>A	19	14029012	14029012	G	A	CC2D1A	c.873+5G>A	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14029012G>A	(Likely) benign	1 lab	b1e5c19e36
6:157527817 ARID1B C>T	6	157527817	157527817	C	T	ARID1B	c.5911C>T	NM_001374828.1	NP_001361757.1:p.(Pro1971Ser)	NC_000006.11:g.157527817C>T	(Likely) benign	1 lab	b1e62a64d9
7:98630675 SMURF1 G>A	7	98630675	98630675	G	A	SMURF1	c.2081C>T	NM_181349.3	NP_851994.1:p.(Pro694Leu)	NC_000007.13:g.98630675G>A	VUS	1 lab	b1e696012c
6:76412455 SENP6 A>G	6	76412455	76412455	A	G	SENP6	c.2383A>G	NM_015571.4	NP_056386.2:p.(Lys795Glu)	NC_000006.11:g.76412455A>G	VUS	1 lab	b1e7723002
12:56720116 PAN2 C>T	12	56720116	56720116	C	T	PAN2	c.1340G>A	NM_014871.6	NP_055686.4:p.(Arg447His)	NC_000012.11:g.56720116C>T	VUS	1 lab	b1e9fa7e3e
9:731215 KANK1 A>G	9	731215	731215	A	G	KANK1	c.2954A>G	NM_015158.5	NP_055973.2:p.(Lys985Arg)	NC_000009.11:g.731215A>G	(Likely) benign	1 lab	b1eb84d773
5:112154797 APC C>CA	5	112154797	112154798	C	CA	APC	c.1069dup	NM_000038.6	NP_000029.2:p.(Ile357AsnfsTer8)	NC_000005.9:g.112154798dup	(Likely) pathogenic	1 lab	b1efc8e9ae
15:24923974 NPAP1 G>A	15	24923974	24923974	G	A	NPAP1	c.2960G>A	NM_018958.3	NP_061831.2:p.(Gly987Glu)	NC_000015.9:g.24923974G>A	VUS	1 lab	b1f11d6302
19:36322221 NPHS1 C>G	19	36322221	36322221	C	G	NPHS1	c.3364G>C	NM_004646.4	NP_004637.1:p.(Glu1122Gln)	NC_000019.9:g.36322221C>G	(Likely) benign	1 lab	b1f1b67b0e
17:80772798 TBCD C>T	17	80772798	80772798	C	T	TBCD	c.1306C>T	NM_005993.5	NP_005984.3:p.(Arg436Ter)	NC_000017.10:g.80772798C>T	(Likely) pathogenic	1 lab	b1f3956e43
9:135946594 CEL A>G	9	135946594	135946594	A	G	CEL	c.1705A>G	NM_001807.6	NP_001798.3:p.(Thr569Ala)	NC_000009.11:g.135946594A>G	(Likely) benign	1 lab	b1f5f37ac6
10:96044496 PLCE1 G>A	10	96044496	96044496	G	A	PLCE1	c.4918-109G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96044496G>A	(Likely) benign	1 lab	2aaf5b760c
2:31637500 XDH A>C	2	31637500	31637500	A	C	XDH	c.33T>G	NM_000379.4	NP_000370.2:p.(Asn11Lys)	NC_000002.11:g.31637500A>C	VUS	1 lab	b1f778699e
1:39816518 MACF1 A>C	1	39816518	39816518	A	C	MACF1	c.11027A>C	NM_001394062.1	NP_001380991.1:p.(Glu3676Ala)	NC_000001.10:g.39816518A>C	VUS	1 lab	b1f7af0d68
15:60834823 RORA A>G	15	60834823	60834823	A	G	RORA	c.197-10773T>C	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60834823A>G	(Likely) benign	1 lab	b1f7c7ee55
11:118360895 KMT2A A>G	11	118360895	118360895	A	G	KMT2A	c.4627A>G	NM_001197104.2	NP_001184033.1:p.(Lys1543Glu)	NC_000011.9:g.118360895A>G	(Likely) benign	1 lab	b1f953d55c
10:73537433 CDH23 A>T	10	73537433	73537433	A	T	CDH23	c.4846-4A>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73537433A>T	(Likely) benign	1 lab	b1f9e7b0ab
1:120512146 NOTCH2 C>T	1	120512146	120512146	C	T	NOTCH2	c.1096G>A	NM_024408.4	NP_077719.2:p.(Glu366Lys)	NC_000001.10:g.120512146C>T	VUS	1 lab	b1f9f19cff
1:120279731 PHGDH G>T	1	120279731	120279731	G	T	PHGDH	c.793-6G>T	NM_006623.4	NP_006614.2:p.?	NC_000001.10:g.120279731G>T	(Likely) benign	1 lab	b1fa307ca3
11:121030863 TECTA A>AT	11	121030863	121030864	A	AT	TECTA	c.4710dup	NM_005422.4	NP_005413.2:p.(Val1571CysfsTer15)	NC_000011.9:g.121030864dup	(Likely) pathogenic	1 lab	b1fa3a2000
5:180051024 FLT4 G>A	5	180051024	180051024	G	A	FLT4	c.1459C>T	NM_182925.5	NP_891555.2:p.(Arg487Cys)	NC_000005.9:g.180051024G>A	VUS	1 lab	b1fe7ca88c
6:30679289 MDC1 G>C	6	30679289	30679289	G	C	MDC1	c.2129-8C>G	NM_014641.3	NP_055456.2:p.?	NC_000006.11:g.30679289G>C	(Likely) benign	1 lab	b1fef96444
2:179474477 TTN C>T	2	179474477	179474477	C	T	TTN	c.51673G>A	NM_001267550.2	NP_001254479.2:p.(Glu17225Lys)	NC_000002.11:g.179474477C>T	VUS	1 lab	b1ff2a1062
6:117243322 RFX6 T>A	6	117243322	117243322	T	A	RFX6	c.1437+8T>A	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243322T>A	(Likely) benign	1 lab	b2008510d2
7:92146877 PEX1 C>T	7	92146877	92146877	C	T	PEX1	c.952G>A	NM_000466.3	NP_000457.1:p.(Asp318Asn)	NC_000007.13:g.92146877C>T	VUS	1 lab	b20173f810
X:71359817 NHSL2 G>T	X	71359817	71359817	G	T	NHSL2	c.2419G>T	NM_001013627.3	NP_001013649.2:p.(Val807Phe)	NC_000023.10:g.71359817G>T	VUS	1 lab	b202f321bc
1:12387766 VPS13D C>T	1	12387766	12387766	C	T	VPS13D	c.8052C>T	NM_015378.4	NP_056193.2:p.(Ser2684=)	NC_000001.10:g.12387766C>T	(Likely) benign	1 lab	b2041d7797
18:42531263 SETBP1 G>A	18	42531263	42531263	G	A	SETBP1	c.1958G>A	NM_015559.3	NP_056374.2:p.(Gly653Glu)	NC_000018.9:g.42531263G>A	VUS	1 lab	b20455a941
22:37158950 IFT27 C>T	22	37158950	37158950	C	T	IFT27	c.460G>A	NM_001177701.3	NP_001171172.1:p.(Val154Met)	NC_000022.10:g.37158950C>T	VUS	1 lab	b2169c8bc3
X:132092485 HS6ST2 G>A	X	132092485	132092485	G	A	HS6ST2	c.146C>T	NM_001394073.1	NP_001381002.1:p.(Ser49Leu)	NC_000023.10:g.132092485G>A	(Likely) benign	1 lab	b20919100a
9:35800024 NPR2 C>T	9	35800024	35800024	C	T	NPR2	c.993C>T	NM_003995.4	NP_003986.2:p.(Asn331=)	NC_000009.11:g.35800024C>T	(Likely) benign	1 lab	b20995ff42
2:179467325 TTN CA>C	2	179467325	179467329	CA	C	TTN	c.54812-9del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467329del	(Likely) benign	1 lab	2ab351fe43
5:149359938 SLC26A2 C>G	5	149359938	149359938	C	G	SLC26A2	c.782C>G	NM_000112.4	NP_000103.2:p.(Ser261Cys)	NC_000005.9:g.149359938C>G	VUS	1 lab	b20e5544c0
X:152989463 BCAP31 G>T	X	152989463	152989463	G	T	BCAP31	c.-45+326C>A	NM_001256447.2	NP_001243376.1:p.?	NC_000023.10:g.152989463G>T	(Likely) benign	1 lab	b20f61ddc7
3:142186915 ATR C>CTTTT	3	142186915	142186916	C	CTTTT	ATR	c.6553-6_6553-5insAAAA	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142186915_142186916insTTTT	VUS	1 lab	b20feb0df1
19:50985470 EMC10 AGGGTGGGGGTGG>A	19	50985470	50985494	AGGGTGGGGGTGG	A	EMC10	c.756_767del	NM_206538.4	NP_996261.1:p.(Gly256_Gly259del)	NC_000019.9:g.50985483_50985494del	(Likely) benign	1 lab	b211076b45
4:190989522 MISSING C>G	4	190989522	190989522	C	G	MISSING				NC_000004.11:g.190989522C>G	(Likely) benign	1 lab	b211c99399
7:11446623 THSD7A G>C	7	11446623	11446623	G	C	THSD7A	c.3976C>G	NM_015204.3	NP_056019.1:p.(Pro1326Ala)	NC_000007.13:g.11446623G>C	VUS	1 lab	b21579532b
16:1808144 MAPK8IP3 G>A	16	1808144	1808144	G	A	MAPK8IP3	c.1217-5G>A	NM_001318852.2	NP_001305781.1:p.?	NC_000016.9:g.1808144G>A	(Likely) benign	1 lab	b2177e5e7f
11:836351 CD151 A>G	11	836351	836351	A	G	CD151	c.185A>G	NM_004357.5	NP_004348.2:p.(Tyr62Cys)	NC_000011.9:g.836351A>G	VUS	1 lab	b21954392f
14:30396706 PRKD1 G>C	14	30396706	30396706	G	C	PRKD1	c.13C>G	NM_002742.3	NP_002733.2:p.(Pro5Ala)	NC_000014.8:g.30396706G>C	VUS	1 lab	b21a6014a4
15:89392904 ACAN C>T	15	89392904	89392904	C	T	ACAN	c.1968C>T	NM_001369268.1	NP_001356197.1:p.(Tyr656=)	NC_000015.9:g.89392904C>T	(Likely) benign	1 lab	b21bb61800
11:68205997 LRP5 G>A	11	68205997	68205997	G	A	LRP5	c.4195G>A	NM_002335.4	NP_002326.2:p.(Val1399Ile)	NC_000011.9:g.68205997G>A	(Likely) benign	1 lab	b21c27c66c
X:88008507 CPXCR1 T>C	X	88008507	88008507	T	C	CPXCR1	c.92T>C	NM_033048.6	NP_149037.5:p.(Ile31Thr)	NC_000023.10:g.88008507T>C	(Likely) benign	1 lab	b21c7fd367
16:88801125 PIEZO1 C>T	16	88801125	88801125	C	T	PIEZO1	c.1930G>A	NM_001142864.4	NP_001136336.2:p.(Val644Ile)	NC_000016.9:g.88801125C>T	(Likely) benign	1 lab	b21d5223df
6:43019001 CUL7 C>A	6	43019001	43019001	C	A	CUL7	c.938G>T	NM_014780.5	NP_055595.2:p.(Trp313Leu)	NC_000006.11:g.43019001C>A	VUS	1 lab	b21e030b3a
2:179588282 TTN C>T	2	179588282	179588282	C	T	TTN	c.21545G>A	NM_001267550.2	NP_001254479.2:p.(Arg7182Gln)	NC_000002.11:g.179588282C>T	(Likely) benign	1 lab	b21f4943fa
22:50644875 SELENOO C>T	22	50644875	50644875	C	T	SELENOO	c.684C>T	NM_031454.2	NP_113642.1:p.(Arg228=)	NC_000022.10:g.50644875C>T	VUS	1 lab	b221b671d2
11:66002783 PACS1 G>A	11	66002783	66002783	G	A	PACS1	c.2116G>A	NM_018026.4	NP_060496.2:p.(Val706Met)	NC_000011.9:g.66002783G>A	VUS	1 lab	b222784271
17:79031773 BAIAP2 ACC>A	17	79031773	79031789	ACC	A	BAIAP2	c.217+21_217+22del	NM_001144888.2	NP_001138360.1:p.?	NC_000017.10:g.79031788_79031789del	(Likely) benign	1 lab	b2233676e2
22:41572496 EP300 C>G	22	41572496	41572496	C	G	EP300	c.5025C>G	NM_001429.4	NP_001420.2:p.(His1675Gln)	NC_000022.10:g.41572496C>G	VUS	1 lab	b22604e63c
3:33885700 PDCD6IP A>G	3	33885700	33885700	A	G	PDCD6IP	c.1456A>G	NM_013374.6	NP_037506.2:p.(Lys486Glu)	NC_000003.11:g.33885700A>G	VUS	1 lab	b2268d25b4
11:68180850 LRP5 G>T	11	68180850	68180850	G	T	LRP5	c.2504-307G>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68180850G>T	(Likely) benign	1 lab	b226b8df3d
8:67342293 RRS1 G>T	8	67342293	67342293	G	T	RRS1	c.927G>T	NM_015169.4	NP_055984.1:p.(Lys309Asn)	NC_000008.10:g.67342293G>T	VUS	1 lab	b22747e0ab
22:45972926 FBLN1 C>T	22	45972926	45972926	C	T	FBLN1	c.1910C>T	NM_006486.3	NP_006477.3:p.(Thr637Met)	NC_000022.10:g.45972926C>T	(Likely) benign	1 lab	b228895df1
6:15501171 JARID2 G>A	6	15501171	15501171	G	A	JARID2	c.1979G>A	NM_004973.4	NP_004964.2:p.(Arg660Gln)	NC_000006.11:g.15501171G>A	(Likely) benign	1 lab	b229304fb0
17:11593701 DNAH9 A>G	17	11593701	11593701	A	G	DNAH9	c.4562A>G	NM_001372.4	NP_001363.2:p.(His1521Arg)	NC_000017.10:g.11593701A>G	VUS	1 lab	b229dd2d70
1:27874944 AHDC1 C>T	1	27874944	27874944	C	T	AHDC1	c.3683G>A	NM_001371928.1	NP_001358857.1:p.(Ser1228Asn)	NC_000001.10:g.27874944C>T	(Likely) benign	1 lab	b22a1cbbe6
2:121736037 GLI2 GAGA>G	2	121736037	121736045	GAGA	G	GLI2	c.1351_1353del	NM_001374353.1	NP_001361282.1:p.(Lys451del)	NC_000002.11:g.121736043_121736045del	VUS	1 lab	b22a9c9668
17:27838017 TAOK1 A>G	17	27838017	27838017	A	G	TAOK1	c.1704+7A>G	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27838017A>G	(Likely) benign	1 lab	b22aefb617
X:69176938 EDA G>A	X	69176938	69176938	G	A	EDA	c.458G>A	NM_001399.5	NP_001390.1:p.(Arg153His)	NC_000023.10:g.69176938G>A	(Likely) benign	1 lab	b22b64703e
3:9486792 SETD5 G>GA	3	9486792	9486794	G	GA	SETD5	c.1250dup	NM_001080517.3	NP_001073986.1:p.(Asn417LysfsTer3)	NC_000003.11:g.9486794dup	(Likely) pathogenic	1 lab	b22c5cc4f5
X:153586883 FLNA T>G	X	153586883	153586883	T	G	FLNA	c.4528A>C	NM_001110556.2	NP_001104026.1:p.(Asn1510His)	NC_000023.10:g.153586883T>G	VUS	1 lab	b22ce89c4f
16:23428357 COG7 C>A	16	23428357	23428357	C	A	COG7	c.1223G>T	NM_153603.4	NP_705831.1:p.(Arg408Ile)	NC_000016.9:g.23428357C>A	VUS	1 lab	b22db68bc0
15:99456525 IGF1R G>C	15	99456525	99456525	G	C	IGF1R	c.1828+14G>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99456525G>C	(Likely) benign	1 lab	b230ea8f0c
16:30997519 HSD3B7 G>A	16	30997519	30997519	G	A	HSD3B7	c.316G>A	NM_025193.4	NP_079469.2:p.(Val106Met)	NC_000016.9:g.30997519G>A	VUS	1 lab	b234e19d2a
X:70375201 NLGN3 G>C	X	70375201	70375201	G	C	NLGN3	c.715G>C	NM_181303.2	NP_851820.1:p.(Val239Leu)	NC_000023.10:g.70375201G>C	VUS	1 lab	b234e7bc64
8:17920817 ASAH1 ATTAAT>A	8	17920817	17920825	ATTAAT	A	ASAH1	c.458-83_458-79del	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17920821_17920825del	(Likely) benign	1 lab	2ab62331eb
19:55880307 IL11 C>T	19	55880307	55880307	C	T	IL11	c.10G>A	NM_000641.4	NP_000632.1:p.(Val4Ile)	NC_000019.9:g.55880307C>T	VUS	1 lab	b235afae04
4:169209325 DDX60 C>A	4	169209325	169209325	C	A	DDX60	c.1183G>T	NM_017631.6	NP_060101.3:p.(Gly395Cys)	NC_000004.11:g.169209325C>A	VUS	1 lab	b23697b815
3:43388925 SNRK G>A	3	43388925	43388925	G	A	SNRK	c.1174G>A	NM_017719.5	NP_060189.3:p.(Ala392Thr)	NC_000003.11:g.43388925G>A	VUS	1 lab	b23891faa7
11:133789785 IGSF9B C>T	11	133789785	133789785	C	T	IGSF9B	c.3835G>A	NM_001277285.4	NP_001264214.1:p.(Ala1279Thr)	NC_000011.9:g.133789785C>T	(Likely) benign	1 lab	b238e14f55
12:121426650 HNF1A G>A	12	121426650	121426650	G	A	HNF1A	c.341G>A	NM_000545.8	NP_000536.6:p.(Arg114His)	NC_000012.11:g.121426650G>A	(Likely) benign	1 lab	b23b4ccd01
3:71021279 FOXP1 T>A	3	71021279	71021279	T	A	FOXP1	c.1652+427A>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71021279T>A	(Likely) benign	1 lab	b23c2773c2
19:15292441 NOTCH3 G>A	19	15292441	15292441	G	A	NOTCH3	c.2738C>T	NM_000435.3	NP_000426.2:p.(Pro913Leu)	NC_000019.9:g.15292441G>A	(Likely) benign	1 lab	b23c422e18
12:110252501 TRPV4 G>A	12	110252501	110252501	G	A	TRPV4	c.101C>T	NM_021625.5	NP_067638.3:p.(Ser34Phe)	NC_000012.11:g.110252501G>A	VUS	1 lab	b23c769f51
8:61693905 CHD7 C>T	8	61693905	61693905	C	T	CHD7	c.2012C>T	NM_017780.4	NP_060250.2:p.(Pro671Leu)	NC_000008.10:g.61693905C>T	VUS	1 lab	b23d3336d7
20:10620234 JAG1 G>A	20	10620234	10620234	G	A	JAG1	c.3569C>T	NM_000214.3	NP_000205.1:p.(Pro1190Leu)	NC_000020.10:g.10620234G>A	VUS	1 lab	b23e2e5167
19:14854428 ADGRE2 C>T	19	14854428	14854428	C	T	ADGRE2	c.2352G>A	NM_013447.4	NP_038475.2:p.(Gln784=)	NC_000019.9:g.14854428C>T	(Likely) benign	1 lab	b23f3983db
15:89876619 POLGARF C>G	15	89876619	89876619	C	G	POLGARF	c.422G>C	NM_001430120.1	NP_001417049.1:p.(Arg141Pro)	NC_000015.9:g.89876619C>G	VUS	1 lab	b24069473d
22:20030957 TANGO2 A>AC	22	20030957	20030958	A	AC	TANGO2	c.136_137insC	NM_152906.7	NP_690870.3:p.(Ile46ThrfsTer45)	NC_000022.10:g.20030957_20030958insC	(Likely) pathogenic	1 lab	b240df43ea
1:155314030 ASH1L T>G	1	155314030	155314030	T	G	ASH1L	c.7925A>C	NM_018489.3	NP_060959.2:p.(Gln2642Pro)	NC_000001.10:g.155314030T>G	VUS	1 lab	b2411c8677
11:111866849 DIXDC1 G>T	11	111866849	111866849	G	T	DIXDC1	c.1735G>T	NM_001037954.4	NP_001033043.1:p.(Glu579Ter)	NC_000011.9:g.111866849G>T	VUS	1 lab	b241bb1af3
15:27193285 GABRA5 G>A	15	27193285	27193285	G	A	GABRA5	c.1294G>A	NM_000810.4	NP_000801.1:p.(Val432Ile)	NC_000015.9:g.27193285G>A	VUS	1 lab	b242030ee4
9:35072136 VCP A>C	9	35072136	35072136	A	C	VCP	c.17+198T>G	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35072136A>C	(Likely) benign	1 lab	b243f4e0de
3:47610555 CSPG5 AG>A	3	47610555	47610556	AG	A	CSPG5	c.1458+86del	NM_006574.4	NP_006565.2:p.?	NC_000003.11:g.47610556del	VUS	1 lab	b3f48f038f
1:241954005 WDR64 TA>T	1	241954005	241954023	TA	T	WDR64	c.2997+25del	NM_001367482.1	NP_001354411.1:p.?	NC_000001.10:g.241954023del	(Likely) benign	1 lab	b24621a88b
20:57415542 GNAS-AS1 CGAGCCTGAGACCGCCCCCACCACT>C	20	57415542	57415571	CGAGCCTGAGACCGCCCCCACCACT	C	GNAS-AS1	n.672+1426_672+1449del	NR_185847.1		NC_000020.10:g.57415548_57415571del	(Likely) benign	1 lab	b246ad222b
5:14488047 TRIO C>T	5	14488047	14488047	C	T	TRIO	c.7310C>T	NM_007118.4	NP_009049.2:p.(Ala2437Val)	NC_000005.9:g.14488047C>T	(Likely) benign	1 lab	b247502674
16:53675301 RPGRIP1L T>G	16	53675301	53675301	T	G	RPGRIP1L	c.2770A>C	NM_015272.5	NP_056087.2:p.(Ser924Arg)	NC_000016.9:g.53675301T>G	VUS	1 lab	b2489c852b
1:10678421 PEX14 G>A	1	10678421	10678421	G	A	PEX14	c.331G>A	NM_004565.3	NP_004556.1:p.(Ala111Thr)	NC_000001.10:g.10678421G>A	VUS	1 lab	b24b460592
17:21319721 KCNJ12 G>A	17	21319721	21319721	G	A	KCNJ12	c.1067G>A	NM_021012.5	NP_066292.2:p.(Arg356His)	NC_000017.10:g.21319721G>A	VUS	1 lab	b24b77f5ea
9:35807358 NPR2 G>C	9	35807358	35807358	G	C	NPR2	c.2675G>C	NM_003995.4	NP_003986.2:p.(Cys892Ser)	NC_000009.11:g.35807358G>C	VUS	1 lab	b24c04965c
6:151726934 RMND1 G>T	6	151726934	151726934	G	T	RMND1	c.1238C>A	NM_017909.4	NP_060379.2:p.(Thr413Lys)	NC_000006.11:g.151726934G>T	(Likely) pathogenic	1 lab	b24c8ed284
1:197061163 ASPM A>C	1	197061163	197061163	A	C	ASPM	c.9318T>G	NM_018136.5	NP_060606.3:p.(Ile3106Met)	NC_000001.10:g.197061163A>C	(Likely) benign	1 lab	b24ced8ab6
2:121747018 GLI2 G>T	2	121747018	121747018	G	T	GLI2	c.3477G>T	NM_001374353.1	NP_001361282.1:p.(Gln1159His)	NC_000002.11:g.121747018G>T	(Likely) benign	1 lab	b24dcf8142
1:220311332 IARS2 G>A	1	220311332	220311332	G	A	IARS2	c.2122G>A	NM_018060.4	NP_060530.3:p.(Glu708Lys)	NC_000001.10:g.220311332G>A	(Likely) benign	1 lab	b24ea22f19
18:19024182 GREB1L C>A	18	19024182	19024182	C	A	GREB1L	c.1208-3C>A	NM_001142966.3	NP_001136438.1:p.?	NC_000018.9:g.19024182C>A	VUS	1 lab	b25adc9f9f
1:53370362 ECHDC2 C>T	1	53370362	53370362	C	T	ECHDC2	c.658G>A	NM_001198961.2	NP_001185890.1:p.(Ala220Thr)	NC_000001.10:g.53370362C>T	(Likely) benign	1 lab	b24ec0b560
9:79239358 PRUNE2 C>T	9	79239358	79239358	C	T	PRUNE2	c.9188+10G>A	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79239358C>T	VUS	1 lab	b25cadc063
6:52268330 PAQR8 A>G	6	52268330	52268330	A	G	PAQR8	c.319A>G	NM_133367.5	NP_588608.1:p.(Thr107Ala)	NC_000006.11:g.52268330A>G	(Likely) benign	1 lab	b24ec26d0f
14:50778837 L2HGDH G>C	14	50778837	50778837	G	C	L2HGDH	c.32C>G	NM_024884.3	NP_079160.1:p.(Ala11Gly)	NC_000014.8:g.50778837G>C	VUS	1 lab	b3f5a6df12
7:100675857 MUC17 C>A	7	100675857	100675857	C	A	MUC17	c.1160C>A	NM_001040105.2	NP_001035194.1:p.(Thr387Asn)	NC_000007.13:g.100675857C>A	(Likely) benign	1 lab	b24f089fb4
19:1456942 APC2 G>A	19	1456942	1456942	G	A	APC2	c.907G>A	NM_005883.3	NP_005874.1:p.(Glu303Lys)	NC_000019.9:g.1456942G>A	VUS	1 lab	b24f4cad41
1:94466432 ABCA4 C>T	1	94466432	94466432	C	T	ABCA4	c.6439G>A	NM_000350.3	NP_000341.2:p.(Ala2147Thr)	NC_000001.10:g.94466432C>T	VUS	1 lab	b2518fe07d
9:135940077 CEL A>C	9	135940077	135940077	A	C	CEL	c.268A>C	NM_001807.6	NP_001798.3:p.(Thr90Pro)	NC_000009.11:g.135940077A>C	(Likely) benign	1 lab	b251e11ae6
11:64695360 PPP2R5B G>A	11	64695360	64695360	G	A	PPP2R5B	c.483G>A	NM_006244.4	NP_006235.1:p.(Ser161=)	NC_000011.9:g.64695360G>A	(Likely) benign	1 lab	b25273d9a7
12:46254587 ARID2 A>G	12	46254587	46254587	A	G	ARID2	c.4777A>G	NM_152641.4	NP_689854.2:p.(Thr1593Ala)	NC_000012.11:g.46254587A>G	(Likely) benign	1 lab	b255025aa1
1:103544260 COL11A1 G>C	1	103544260	103544260	G	C	COL11A1	c.442C>G	NM_001854.4	NP_001845.3:p.(Pro148Ala)	NC_000001.10:g.103544260G>C	VUS	1 lab	b25639704e
20:3171871 DDRGK1 C>T	20	3171871	3171871	C	T	DDRGK1	c.743G>A	NM_023935.3	NP_076424.1:p.(Arg248His)	NC_000020.10:g.3171871C>T	VUS	1 lab	b256d9b4c9
1:39889725 MACF1 G>A	1	39889725	39889725	G	A	MACF1	c.16175G>A	NM_001394062.1	NP_001380991.1:p.(Arg5392Gln)	NC_000001.10:g.39889725G>A	(Likely) benign	1 lab	b258687d15
11:125483052 STT3A C>T	11	125483052	125483052	C	T	STT3A	c.1534C>T	NM_152713.5	NP_689926.1:p.(Leu512Phe)	NC_000011.9:g.125483052C>T	VUS	1 lab	b2595c7bb4
1:11204698 MTOR A>G	1	11204698	11204698	A	G	MTOR	c.4872+7T>C	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11204698A>G	(Likely) benign	1 lab	b2597f967f
1:55080448 FAM151A C>T	1	55080448	55080448	C	T	FAM151A	c.500G>A	NM_176782.3	NP_788954.2:p.(Arg167Gln)	NC_000001.10:g.55080448C>T	(Likely) benign	1 lab	b25ac57e28
17:4927222 KIF1C C>T	17	4927222	4927222	C	T	KIF1C	c.3088C>T	NM_006612.6	NP_006603.2:p.(Arg1030Cys)	NC_000017.10:g.4927222C>T	VUS	1 lab	28f94dba46
X:119677608 CUL4B AAGTC>A	X	119677608	119677612	AAGTC	A	CUL4B	c.1226_1229del	NM_001079872.2	NP_001073341.1:p.(Arg409IlefsTer5)	NC_000023.10:g.119677609_119677612del	(Likely) pathogenic	1 lab	b25bacffd4
4:79391427 FRAS1 T>G	4	79391427	79391427	T	G	FRAS1	c.7371+182T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391427T>G	(Likely) benign	1 lab	2aba1a5949
19:12868550 BEST2 C>T	19	12868550	12868550	C	T	BEST2	c.1189C>T	NM_017682.3	NP_060152.2:p.(Leu397Phe)	NC_000019.9:g.12868550C>T	(Likely) benign	1 lab	b25dcd10fe
16:30750845 SRCAP C>T	16	30750845	30750845	C	T	SRCAP	c.9484C>T	NM_006662.3	NP_006653.2:p.(Pro3162Ser)	NC_000016.9:g.30750845C>T	VUS	1 lab	b25e0a07c0
17:11622742 DNAH9 G>A	17	11622742	11622742	G	A	DNAH9	c.5644G>A	NM_001372.4	NP_001363.2:p.(Asp1882Asn)	NC_000017.10:g.11622742G>A	VUS	1 lab	b25ebbb751
15:90630756 IDH2 A>G	15	90630756	90630756	A	G	IDH2	c.730T>C	NM_002168.4	NP_002159.2:p.(Trp244Arg)	NC_000015.9:g.90630756A>G	(Likely) benign	1 lab	b261451a9f
4:83827766 THAP9 G>A	4	83827766	83827766	G	A	THAP9	c.566G>A	NM_024672.6	NP_078948.3:p.(Arg189Gln)	NC_000004.11:g.83827766G>A	(Likely) benign	1 lab	b261c8c0a5
7:147600681 CNTNAP2 T>C	7	147600681	147600681	T	C	CNTNAP2	c.2123T>C	NM_014141.6	NP_054860.1:p.(Val708Ala)	NC_000007.13:g.147600681T>C	VUS	1 lab	b262b93a28
4:8229322 SH3TC1 C>T	4	8229322	8229322	C	T	SH3TC1	c.1901C>T	NM_018986.5	NP_061859.4:p.(Thr634Met)	NC_000004.11:g.8229322C>T	(Likely) benign	1 lab	b263c29b3d
3:170875379 TNIK C>T	3	170875379	170875379	C	T	TNIK	c.1091G>A	NM_015028.4	NP_055843.1:p.(Arg364His)	NC_000003.11:g.170875379C>T	VUS	1 lab	b263c78f00
15:75982666 CSPG4 C>A	15	75982666	75982666	C	A	CSPG4	c.740G>T	NM_001897.5	NP_001888.2:p.(Arg247Leu)	NC_000015.9:g.75982666C>A	VUS	1 lab	b26429fef9
13:32828460 FRY A>G	13	32828460	32828460	A	G	FRY	c.7345A>G	NM_023037.3	NP_075463.2:p.(Thr2449Ala)	NC_000013.10:g.32828460A>G	(Likely) benign	1 lab	b2650e799f
8:97156472 GDF6 TAG>T	8	97156472	97156519	TAG	T	GDF6	c.*317_*318del	NM_001001557.4	NP_001001557.1:p.?	NC_000008.10:g.97156518_97156519del	VUS	1 lab	b26a39479a
11:63987112 FERMT3 G>A	11	63987112	63987112	G	A	FERMT3	c.1011G>A	NM_031471.6	NP_113659.3:p.(Ser337=)	NC_000011.9:g.63987112G>A	VUS	1 lab	b26a5f5d6e
19:55873865 GARIN5B G>C	19	55873865	55873865	G	C	GARIN5B	c.312C>G	NM_001145402.2	NP_001138874.1:p.(Ile104Met)	NC_000019.9:g.55873865G>C	(Likely) benign	1 lab	b26c60b018
22:51159424 SHANK3 G>A	22	51159424	51159424	G	A	SHANK3	c.3388G>A	NM_001372044.2	NP_001358973.1:p.(Glu1130Lys)	NC_000022.10:g.51159424G>A	(Likely) benign	1 lab	b26e8a808f
14:21793077 RPGRIP1 C>T	14	21793077	21793077	C	T	RPGRIP1	c.2063C>T	NM_020366.4	NP_065099.3:p.(Ser688Leu)	NC_000014.8:g.21793077C>T	VUS	1 lab	b26ebf54d7
17:61838303 CCDC47 G>A	17	61838303	61838303	G	A	CCDC47	c.706C>T	NM_020198.3	NP_064583.2:p.(Arg236Trp)	NC_000017.10:g.61838303G>A	VUS	1 lab	b26ece7d93
15:33893659 RYR3 G>A	15	33893659	33893659	G	A	RYR3	c.1828G>A	NM_001036.6	NP_001027.3:p.(Val610Ile)	NC_000015.9:g.33893659G>A	(Likely) benign	1 lab	b26f08ca53
2:219920384 IHH C>T	2	219920384	219920384	C	T	IHH	c.781G>A	NM_002181.4	NP_002172.2:p.(Glu261Lys)	NC_000002.11:g.219920384C>T	(Likely) benign	1 lab	b274a699a2
22:42608896 TCF20 T>TG	22	42608896	42608897	T	TG	TCF20	c.2415dup	NM_001378418.1	NP_001365347.1:p.(Lys806GlnfsTer25)	NC_000022.10:g.42608897dup	(Likely) pathogenic	1 lab	b2753cfacc
X:152106665 ZNF185 A>G	X	152106665	152106665	A	G	ZNF185	c.1265A>G	NM_001395254.1	NP_001382183.1:p.(Asn422Ser)	NC_000023.10:g.152106665A>G	(Likely) benign	1 lab	b275f59fec
12:56721419 PAN2 GA>G	12	56721419	56721429	GA	G	PAN2	c.652-5del	NM_014871.6	NP_055686.4:p.?	NC_000012.11:g.56721429del	(Likely) benign	1 lab	b276bcb973
6:32552039 HLA-DRB1 C>G	6	32552039	32552039	C	G	HLA-DRB1	c.217G>C	NM_002124.4	NP_002115.2:p.(Val73Leu)	NC_000006.11:g.32552039C>G	(Likely) benign	1 lab	b27cee3382
9:36219891 GNE A>G	9	36219891	36219891	A	G	GNE	c.1760T>C	NM_005476.7	NP_005467.1:p.(Ile587Thr)	NC_000009.11:g.36219891A>G	(Likely) pathogenic	1 lab	b27e150b98
17:73826120 UNC13D C>T	17	73826120	73826120	C	T	UNC13D	c.2943G>A	NM_199242.2	NP_954712.1:p.(Glu981=)	NC_000017.10:g.73826120C>T	(Likely) benign	1 lab	2ac09bcddd
9:135947001 CEL C>CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	9	135947001	135947050	C	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	CEL	c.2129_2161dup	NM_001807.6	NP_001798.3:p.(Glu710_Ser720dup)	NC_000009.11:g.135947018_135947050dup	(Likely) benign	1 lab	b27f407617
14:23873562 MYH6 G>C	14	23873562	23873562	G	C	MYH6	c.678C>G	NM_002471.4	NP_002462.2:p.(Pro226=)	NC_000014.8:g.23873562G>C	(Likely) benign	1 lab	28fe112767
1:181753842 CACNA1E C>T	1	181753842	181753842	C	T	CACNA1E	c.5516C>T	NM_001205293.3	NP_001192222.1:p.(Thr1839Ile)	NC_000001.10:g.181753842C>T	VUS	1 lab	b282644778
12:56477541 ERBB3 C>T	12	56477541	56477541	C	T	ERBB3	c.89C>T	NM_001982.4	NP_001973.2:p.(Pro30Leu)	NC_000012.11:g.56477541C>T	(Likely) benign	1 lab	b2835544ed
X:27999354 DCAF8L1 G>A	X	27999354	27999354	G	A	DCAF8L1	c.98C>T	NM_001017930.2	NP_001017930.1:p.(Thr33Met)	NC_000023.10:g.27999354G>A	VUS	1 lab	b283862d92
3:49055837 DALRD3 C>G	3	49055837	49055837	C	G	DALRD3	c.161G>C	NM_001009996.3	NP_001009996.1:p.(Gly54Ala)	NC_000003.11:g.49055837C>G	VUS	1 lab	b283f1424b
12:42858348 PRICKLE1 C>G	12	42858348	42858348	C	G	PRICKLE1	c.1488G>C	NM_153026.3	NP_694571.2:p.(Arg496Ser)	NC_000012.11:g.42858348C>G	(Likely) benign	1 lab	b2851a3366
X:123468578 TEX13D G>C	X	123468578	123468578	G	C	TEX13D	c.1811G>C	NM_001355534.2	NP_001342463.1:p.(Arg604Pro)	NC_000023.10:g.123468578G>C	(Likely) benign	1 lab	b286c41de0
2:241713648 KIF1A G>A	2	241713648	241713648	G	A	KIF1A	c.989C>T	NM_001244008.2	NP_001230937.1:p.(Ala330Val)	NC_000002.11:g.241713648G>A	VUS	1 lab	b286c69968
X:53226031 KDM5C G>C	X	53226031	53226031	G	C	KDM5C	c.2818C>G	NM_004187.5	NP_004178.2:p.(Pro940Ala)	NC_000023.10:g.53226031G>C	VUS	1 lab	b2873082b5
16:2808467 SRRM2 C>T	16	2808467	2808467	C	T	SRRM2	c.516-4C>T	NM_016333.4	NP_057417.3:p.?	NC_000016.9:g.2808467C>T	(Likely) benign	1 lab	b28807648b
3:49548235 DAG1 A>C	3	49548235	49548235	A	C	DAG1	c.268A>C	NM_004393.6	NP_004384.5:p.(Ser90Arg)	NC_000003.11:g.49548235A>C	(Likely) benign	1 lab	b28917e603
10:112572332 RBM20 G>A	10	112572332	112572332	G	A	RBM20	c.2177G>A	NM_001134363.1	NP_001127835.1:p.(Arg726Gln)	NC_000010.10:g.112572332G>A	VUS	1 lab	2ac62fc804
10:78761275 KCNMA1 C>T	10	78761275	78761275	C	T	KCNMA1	c.2156G>A	NM_001161352.2	NP_001154824.1:p.(Arg719His)	NC_000010.10:g.78761275C>T	(Likely) benign	1 lab	b28b103202
18:10672779 PIEZO2 GT>G	18	10672779	10672782	GT	G	PIEZO2	c.8252del	NM_001378183.1	NP_001365112.1:p.(Asn2751ThrfsTer43)	NC_000018.9:g.10672782del	(Likely) pathogenic	1 lab	b28ef2809d
19:22848009 ZNF492 C>G	19	22848009	22848009	C	G	ZNF492	c.1538C>G	NM_020855.3	NP_065906.1:p.(Ala513Gly)	NC_000019.9:g.22848009C>G	VUS	1 lab	b28f05ffac
17:7749954 KDM6B C>G	17	7749954	7749954	C	G	KDM6B	c.607C>G	NM_001348716.2	NP_001335645.1:p.(Pro203Ala)	NC_000017.10:g.7749954C>G	(Likely) benign	1 lab	b29075fbe3
5:169683522 LCP2 G>A	5	169683522	169683522	G	A	LCP2	c.1150+8C>T	NM_005565.5	NP_005556.1:p.?	NC_000005.9:g.169683522G>A	(Likely) benign	1 lab	b2912724d5
X:153660206 ATP6AP1 G>A	X	153660206	153660206	G	A	ATP6AP1	c.319G>A	NM_001183.6	NP_001174.2:p.(Gly107Ser)	NC_000023.10:g.153660206G>A	VUS	1 lab	b2926c833f
4:103534727 NFKB1 G>A	4	103534727	103534727	G	A	NFKB1	c.2738G>A	NM_003998.4	NP_003989.2:p.(Arg913Lys)	NC_000004.11:g.103534727G>A	(Likely) benign	1 lab	b292bfd3c5
10:61946507 ANK3 AG>A	10	61946507	61946509	AG	A	ANK3	c.2050del	NM_020987.5	NP_066267.2:p.(Leu684SerfsTer7)	NC_000010.10:g.61946509del	VUS	1 lab	b2951b84e7
2:204305395 RAPH1 A>T	2	204305395	204305395	A	T	RAPH1	c.2518T>A	NM_213589.3	NP_998754.1:p.(Leu840Ile)	NC_000002.11:g.204305395A>T	(Likely) benign	1 lab	b2b22cbf6e
1:79002304 PTGFR A>G	1	79002304	79002304	A	G	PTGFR	c.1012A>G	NM_000959.4	NP_000950.1:p.(Ile338Val)	NC_000001.10:g.79002304A>G	(Likely) benign	1 lab	b295d8ca51
6:5369300 FARS2 C>T	6	5369300	5369300	C	T	FARS2	c.497C>T	NM_006567.5	NP_006558.1:p.(Ala166Val)	NC_000006.11:g.5369300C>T	(Likely) benign	1 lab	b299ad39a6
5:176083926 TSPAN17 G>A	5	176083926	176083926	G	A	TSPAN17	c.778G>A	NM_130465.5	NP_569732.2:p.(Val260Met)	NC_000005.9:g.176083926G>A	VUS	1 lab	b29a625592
17:7348711 CHRNB1 G>A	17	7348711	7348711	G	A	CHRNB1	c.181G>A	NM_000747.3	NP_000738.2:p.(Ala61Thr)	NC_000017.10:g.7348711G>A	(Likely) benign	1 lab	b29a9ac305
21:47404305 COL6A1 T>C	21	47404305	47404305	T	C	COL6A1	c.350T>C	NM_001848.3	NP_001839.2:p.(Val117Ala)	NC_000021.8:g.47404305T>C	VUS	1 lab	b29c0f9720
6:31852777 EHMT2 G>A	6	31852777	31852777	G	A	EHMT2	c.2360C>T	NM_006709.5	NP_006700.3:p.(Thr787Met)	NC_000006.11:g.31852777G>A	VUS	1 lab	b29c2a0707
9:131085327 COQ4 G>A	9	131085327	131085327	G	A	COQ4	c.103G>A	NM_016035.5	NP_057119.3:p.(Gly35Ser)	NC_000009.11:g.131085327G>A	VUS	1 lab	b29ca13928
3:52440315 BAP1 T>C	3	52440315	52440315	T	C	BAP1	c.737A>G	NM_004656.4	NP_004647.1:p.(His246Arg)	NC_000003.11:g.52440315T>C	(Likely) benign	1 lab	b29d281479
2:230659731 TRIP12 A>G	2	230659731	230659731	A	G	TRIP12	c.3968+164T>C	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230659731A>G	VUS	1 lab	b29d292e00
8:61707595 CHD7 A>C	8	61707595	61707595	A	C	CHD7	c.2147A>C	NM_017780.4	NP_060250.2:p.(Lys716Thr)	NC_000008.10:g.61707595A>C	VUS	1 lab	b3568ea8b5
6:30885474 VARS2 G>A	6	30885474	30885474	G	A	VARS2	c.876G>A	NM_020442.6	NP_065175.4:p.(Val292=)	NC_000006.11:g.30885474G>A	(Likely) benign	1 lab	b29d3b1408
2:179437100 TTN A>G	2	179437100	179437100	A	G	TTN	c.73759T>C	NM_001267550.2	NP_001254479.2:p.(Cys24587Arg)	NC_000002.11:g.179437100A>G	VUS	1 lab	b2a0e86ecf
1:33276309 YARS1 T>C	1	33276309	33276309	T	C	YARS1	c.263A>G	NM_003680.4	NP_003671.1:p.(Glu88Gly)	NC_000001.10:g.33276309T>C	VUS	1 lab	b2a0ebf2a4
14:93686751 UBR7 A>G	14	93686751	93686751	A	G	UBR7	c.1117A>G	NM_175748.4	NP_786924.2:p.(Ile373Val)	NC_000014.8:g.93686751A>G	VUS	1 lab	b2a118bd2f
3:44286256 TOPAZ1 C>T	3	44286256	44286256	C	T	TOPAZ1	c.2258C>T	NM_001145030.2	NP_001138502.1:p.(Pro753Leu)	NC_000003.11:g.44286256C>T	(Likely) benign	1 lab	b2a4b01bea
15:99456415 IGF1R G>A	15	99456415	99456415	G	A	IGF1R	c.1732G>A	NM_000875.5	NP_000866.1:p.(Ala578Thr)	NC_000015.9:g.99456415G>A	VUS	1 lab	b2a5795a93
2:166852582 SCN1A A>G	2	166852582	166852582	A	G	SCN1A	c.4522T>C	NM_001165963.4	NP_001159435.1:p.(Tyr1508His)	NC_000002.11:g.166852582A>G	VUS	1 lab	b2a6589dc3
2:219925047 IHH G>A	2	219925047	219925047	G	A	IHH	c.143C>T	NM_002181.4	NP_002172.2:p.(Ala48Val)	NC_000002.11:g.219925047G>A	VUS	1 lab	b2a6ed004d
19:21926903 ZNF100 T>A	19	21926903	21926903	T	A	ZNF100	c.238A>T	NM_173531.4	NP_775802.2:p.(Thr80Ser)	NC_000019.9:g.21926903T>A	(Likely) benign	1 lab	b2a8186f5a
12:102057237 MYBPC1 A>T	12	102057237	102057237	A	T	MYBPC1	c.2255A>T	NM_002465.4	NP_002456.2:p.(Asp752Val)	NC_000012.11:g.102057237A>T	VUS	1 lab	b2a87f35e5
9:32459479 RIGI T>C	9	32459479	32459479	T	C	RIGI	c.2371A>G	NM_014314.4	NP_055129.2:p.(Arg791Gly)	NC_000009.11:g.32459479T>C	VUS	1 lab	b2a94bfdee
X:50377446 SHROOM4 T>A	X	50377446	50377446	T	A	SHROOM4	c.1627A>T	NM_020717.5	NP_065768.2:p.(Thr543Ser)	NC_000023.10:g.50377446T>A	(Likely) benign	1 lab	b2a9b0d9d8
X:153296297 MECP2 G>A	X	153296297	153296297	G	A	MECP2	c.1018C>T	NM_001110792.2	NP_001104262.1:p.(Leu340Phe)	NC_000023.10:g.153296297G>A	VUS	1 lab	b2abbefac8
8:70512908 SULF1 C>G	8	70512908	70512908	C	G	SULF1	c.805C>G	NM_001128205.2	NP_001121677.1:p.(Pro269Ala)	NC_000008.10:g.70512908C>G	(Likely) benign	1 lab	b2abf61348
X:53222966 KDM5C G>A	X	53222966	53222966	G	A	KDM5C	c.4106C>T	NM_004187.5	NP_004178.2:p.(Ser1369Leu)	NC_000023.10:g.53222966G>A	VUS	1 lab	b2aed14a87
X:25031520 ARX C>T	X	25031520	25031520	C	T	ARX	c.592G>A	NM_139058.3	NP_620689.1:p.(Val198Ile)	NC_000023.10:g.25031520C>T	(Likely) benign	1 lab	b2affb8e26
16:22270017 EEF2K G>A	16	22270017	22270017	G	A	EEF2K	c.1231+1G>A	NM_013302.5	NP_037434.2:p.?	NC_000016.9:g.22270017G>A	VUS	1 lab	b2b1373ad1
3:195509419 MUC4 ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT>A	3	195509419	195509524	ACAGGAAGAGAGGTGGCGTGACCTATGGATGCTGAGGAAGTGTCGGTGACAGGAAGAAGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGT	A	MUC4	c.8936_9031del	NM_018406.7	NP_060876.5:p.(Asp2979_Pro3010del)	NC_000003.11:g.195509429_195509524del	(Likely) benign	1 lab	b2b155d098
1:22214008 HSPG2 TG>T	1	22214008	22214012	TG	T	HSPG2	c.862del	NM_005529.7	NP_005520.4:p.(Gln288ArgfsTer30)	NC_000001.10:g.22214012del	(Likely) pathogenic	1 lab	b2b4cfe278
14:68331678 RAD51B CTTTTTTTTTTTTTTTTTTTTTTTTT>C	14	68331678	68331717	CTTTTTTTTTTTTTTTTTTTTTTTTT	C	RAD51B	c.316-27_316-3del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68331693_68331717del	VUS	1 lab	b2b51f25dc
16:89825016 FANCA G>A	16	89825016	89825016	G	A	FANCA	c.2950C>T	NM_000135.4	NP_000126.2:p.(Leu984Phe)	NC_000016.9:g.89825016G>A	VUS	1 lab	b2b5484632
22:51159320 SHANK3 T>G	22	51159320	51159320	T	G	SHANK3	c.3284T>G	NM_001372044.2	NP_001358973.1:p.(Leu1095Arg)	NC_000022.10:g.51159320T>G	VUS	1 lab	b2b6619275
X:53432886 SMC1A G>A	X	53432886	53432886	G	A	SMC1A	c.1548C>T	NM_006306.4	NP_006297.2:p.(Tyr516=)	NC_000023.10:g.53432886G>A	(Likely) benign	1 lab	b2b7e8ba99
19:22941335 ZNF99 C>A	19	22941335	22941335	C	A	ZNF99	c.1376G>T	NM_001080409.3	NP_001073878.2:p.(Ser459Ile)	NC_000019.9:g.22941335C>A	(Likely) benign	1 lab	b2b8a2bf88
4:1807582 FGFR3 C>T	4	1807582	1807582	C	T	FGFR3	c.1751C>T	NM_000142.5	NP_000133.1:p.(Pro584Leu)	NC_000004.11:g.1807582C>T	VUS	1 lab	b2b97417ff
3:170797313 TNIK T>G	3	170797313	170797313	T	G	TNIK	c.3442A>C	NM_015028.4	NP_055843.1:p.(Lys1148Gln)	NC_000003.11:g.170797313T>G	VUS	1 lab	b2bb6e4097
10:112360315 SMC3 G>GT	10	112360315	112360332	G	GT	SMC3	c.2535+28dup	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112360332dup	(Likely) benign	1 lab	b2bb7db775
16:2107179 TSC2 G>A	16	2107179	2107179	G	A	TSC2	c.848G>A	NM_000548.5	NP_000539.2:p.(Arg283Lys)	NC_000016.9:g.2107179G>A	VUS	1 lab	b2bc1879b9
5:140773791 PCDHGB4 A>G	5	140773791	140773791	A	G	PCDHGB4	c.2397+3943A>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140773791A>G	(Likely) benign	1 lab	b2bdf6a200
X:47003872 NDUFB11 C>T	X	47003872	47003872	C	T	NDUFB11	c.207G>A	NM_001135998.3	NP_001129470.1:p.(Lys69=)	NC_000023.10:g.47003872C>T	VUS	1 lab	b2c0379f52
8:116426952 TRPS1 G>C	8	116426952	116426952	G	C	TRPS1	c.3184C>G	NM_014112.5	NP_054831.2:p.(Pro1062Ala)	NC_000008.10:g.116426952G>C	(Likely) benign	1 lab	b2c11c48b5
19:38998345 RYR1 C>A	19	38998345	38998345	C	A	RYR1	c.8817-7C>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38998345C>A	(Likely) benign	1 lab	b2c12bf01c
11:9875173 SBF2 C>T	11	9875173	9875173	C	T	SBF2	c.2450G>A	NM_030962.4	NP_112224.1:p.(Arg817Gln)	NC_000011.9:g.9875173C>T	VUS	1 lab	b31e0afb0f
9:139734939 RABL6 C>CG	9	139734939	139734940	C	CG	RABL6	c.2156dup	NM_024718.5	NP_078994.3:p.(His720ProfsTer160)	NC_000009.11:g.139734940dup	VUS	1 lab	b2c20a5c1c
16:30732098 SRCAP C>T	16	30732098	30732098	C	T	SRCAP	c.3052C>T	NM_006662.3	NP_006653.2:p.(Pro1018Ser)	NC_000016.9:g.30732098C>T	(Likely) benign	1 lab	b2c387271e
20:60910140 LAMA5 C>CCTGGCCGCACACGTGGGGCTTGCAGAAGCA	20	60910140	60910177	C	CCTGGCCGCACACGTGGGGCTTGCAGAAGCA	LAMA5	c.2389_2418dup	NM_005560.6	NP_005551.3:p.(Cys797_Gln806dup)	NC_000020.10:g.60910148_60910177dup	VUS	1 lab	b2c50144e1
14:24653972 IPO4 G>A	14	24653972	24653972	G	A	IPO4	c.1523-3C>T	NM_024658.4	NP_078934.3:p.?	NC_000014.8:g.24653972G>A	VUS	1 lab	b2c657e2ed
7:139717592 TBXAS1 G>A	7	139717592	139717592	G	A	TBXAS1	c.1486G>A	NM_001061.7	NP_001052.3:p.(Val496Met)	NC_000007.13:g.139717592G>A	(Likely) benign	1 lab	b2c7ca9bb1
1:165712548 TMCO1 T>A	1	165712548	165712548	T	A	TMCO1	c.324A>T	NM_019026.6	NP_061899.3:p.(Ile108=)	NC_000001.10:g.165712548T>A	VUS	1 lab	b2c84cecfe
3:39431077 SLC25A38 G>A	3	39431077	39431077	G	A	SLC25A38	c.161G>A	NM_017875.4	NP_060345.2:p.(Arg54His)	NC_000003.11:g.39431077G>A	VUS	1 lab	b2c90c1d77
11:72040750 CLPB C>G	11	72040750	72040750	C	G	CLPB	c.873+1G>C	NM_001258392.3	NP_001245321.1:p.?	NC_000011.9:g.72040750C>G	VUS	1 lab	b2cb293e62
X:139586916 SOX3 C>T	X	139586916	139586916	C	T	SOX3	c.310G>A	NM_005634.3	NP_005625.2:p.(Gly104Arg)	NC_000023.10:g.139586916C>T	(Likely) benign	1 lab	b2cb52bcfa
1:22216578 HSPG2 T>C	1	22216578	22216578	T	C	HSPG2	c.470A>G	NM_005529.7	NP_005520.4:p.(Asp157Gly)	NC_000001.10:g.22216578T>C	VUS	1 lab	b2ce647214
16:2096337 NTHL1 C>T	16	2096337	2096337	C	T	NTHL1	c.146G>A	NM_002528.7	NP_002519.2:p.(Arg49His)	NC_000016.9:g.2096337C>T	VUS	1 lab	b2d217957f
3:48916887 SLC25A20 T>C	3	48916887	48916887	T	C	SLC25A20	c.327-6A>G	NM_000387.6	NP_000378.1:p.?	NC_000003.11:g.48916887T>C	VUS	1 lab	b2d2e0f4eb
2:210683786 UNC80 A>C	2	210683786	210683786	A	C	UNC80	c.1763A>C	NM_001371986.1	NP_001358915.1:p.(Tyr588Ser)	NC_000002.11:g.210683786A>C	VUS	1 lab	b2d344e5d8
9:131397174 DYNC2I2 G>A	9	131397174	131397174	G	A	DYNC2I2	c.1008C>T	NM_052844.4	NP_443076.2:p.(Gly336=)	NC_000009.11:g.131397174G>A	VUS	1 lab	b2d4a9eb55
6:168928380 SMOC2 G>A	6	168928380	168928380	G	A	SMOC2	c.436G>A	NM_001166412.2	NP_001159884.1:p.(Val146Met)	NC_000006.11:g.168928380G>A	VUS	1 lab	b2d51ed585
1:197073396 ASPM A>C	1	197073396	197073396	A	C	ASPM	c.4985T>G	NM_018136.5	NP_060606.3:p.(Ile1662Ser)	NC_000001.10:g.197073396A>C	VUS	1 lab	b2d841b361
X:100092328 CSTF2 G>A	X	100092328	100092328	G	A	CSTF2	c.1501G>A	NM_001325.3	NP_001316.1:p.(Val501Ile)	NC_000023.10:g.100092328G>A	VUS	1 lab	b2d8ec5372
8:144997319 PLEC C>T	8	144997319	144997319	C	T	PLEC	c.6778G>A	NM_201384.3	NP_958786.1:p.(Asp2260Asn)	NC_000008.10:g.144997319C>T	VUS	1 lab	b2d93342b6
3:58094954 FLNB G>A	3	58094954	58094954	G	A	FLNB	c.2104G>A	NM_001457.4	NP_001448.2:p.(Gly702Ser)	NC_000003.11:g.58094954G>A	VUS	1 lab	b2d9468999
1:240256103 FMN2 C>G	1	240256103	240256103	C	G	FMN2	c.694C>G	NM_020066.5	NP_064450.3:p.(Pro232Ala)	NC_000001.10:g.240256103C>G	VUS	1 lab	b2d9f8a19d
5:56181867 MAP3K1 A>G	5	56181867	56181867	A	G	MAP3K1	c.4091A>G	NM_005921.2	NP_005912.1:p.(Gln1364Arg)	NC_000005.9:g.56181867A>G	(Likely) benign	1 lab	b2dde257a4
1:211192135 KCNH1 C>T	1	211192135	211192135	C	T	KCNH1	c.1022G>A	NM_172362.3	NP_758872.1:p.(Arg341Lys)	NC_000001.10:g.211192135C>T	VUS	1 lab	b2df98ed64
15:23686217 GOLGA6L2 G>C	15	23686217	23686217	G	C	GOLGA6L2	c.1405C>G	NM_001304388.2	NP_001291317.1:p.(Gln469Glu)	NC_000015.9:g.23686217G>C	VUS	1 lab	b2e03e4f39
6:149720264 TAB2 T>A	6	149720264	149720264	T	A	TAB2	c.1883T>A	NM_001292034.3	NP_001278963.1:p.(Ile628Asn)	NC_000006.11:g.149720264T>A	VUS	1 lab	b2e155723b
14:81609364 TSHR C>G	14	81609364	81609364	C	G	TSHR	c.962C>G	NM_000369.5	NP_000360.2:p.(Pro321Arg)	NC_000014.8:g.81609364C>G	VUS	1 lab	b2e2078bc5
X:135106648 SLC9A6 T>G	X	135106648	135106648	T	G	SLC9A6	c.1460+6T>G	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135106648T>G	(Likely) benign	1 lab	b2e3f2f79c
1:235605204 TBCE A>T	1	235605204	235605204	A	T	TBCE	c.1339+7A>T	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235605204A>T	(Likely) benign	1 lab	2acb3111bb
13:32900392 BRCA2 T>G	13	32900392	32900392	T	G	BRCA2	c.489T>G	NM_000059.4	NP_000050.3:p.(Ser163Arg)	NC_000013.10:g.32900392T>G	VUS	1 lab	b2ea95e699
16:68714922 CDH3 G>A	16	68714922	68714922	G	A	CDH3	c.919G>A	NM_001793.6	NP_001784.2:p.(Gly307Ser)	NC_000016.9:g.68714922G>A	VUS	1 lab	b2ee8dd698
12:23696281 SOX5 T>G	12	23696281	23696281	T	G	SOX5	c.1635A>C	NM_006940.6	NP_008871.3:p.(Glu545Asp)	NC_000012.11:g.23696281T>G	VUS	1 lab	b2f2df3c9a
2:71816729 DYSF G>A	2	71816729	71816729	G	A	DYSF	c.3409G>A	NM_001130987.2	NP_001124459.1:p.(Val1137Met)	NC_000002.11:g.71816729G>A	(Likely) benign	1 lab	b2f4047bf2
12:132561148 EP400 A>G	12	132561148	132561148	A	G	EP400	c.9099+10A>G	NM_015409.5	NP_056224.3:p.?	NC_000012.11:g.132561148A>G	VUS	1 lab	b2f4f61f88
21:45733000 PFKL C>T	21	45733000	45733000	C	T	PFKL	c.567C>T	NM_002626.6	NP_002617.3:p.(Ile189=)	NC_000021.8:g.45733000C>T	(Likely) benign	1 lab	b2f55880bf
9:109688637 ZNF462 C>A	9	109688637	109688637	C	A	ZNF462	c.2444C>A	NM_021224.6	NP_067047.4:p.(Thr815Asn)	NC_000009.11:g.109688637C>A	(Likely) benign	1 lab	b2f60ca1cb
12:121432117 HNF1A G>A	12	121432117	121432117	G	A	HNF1A	c.864G>A	NM_000545.8	NP_000536.6:p.(Gly288=)	NC_000012.11:g.121432117G>A	(Likely) benign	1 lab	b2f82bdaa5
8:28570955 EXTL3 G>GT	8	28570955	28570966	G	GT	EXTL3	c.-569-8dup	NM_001440.4	NP_001431.1:p.?	NC_000008.10:g.28570966dup	(Likely) benign	1 lab	b2fa11db74
4:122853717 TRPC3 C>T	4	122853717	122853717	C	T	TRPC3	c.696G>A	NM_001130698.1	NP_001124170.1:p.(Pro232=)	NC_000004.11:g.122853717C>T	(Likely) benign	1 lab	2acc7bb196
5:42689094 GHR G>T	5	42689094	42689094	G	T	GHR	c.239G>T	NM_000163.5	NP_000154.1:p.(Gly80Val)	NC_000005.9:g.42689094G>T	(Likely) benign	1 lab	b2fbe2512a
18:31251737 ASXL3 G>C	18	31251737	31251737	G	C	ASXL3	c.622G>C	NM_030632.3	NP_085135.1:p.(Asp208His)	NC_000018.9:g.31251737G>C	VUS	1 lab	b2fc7f2884
11:1078320 MUC2 G>A	11	1078320	1078320	G	A	MUC2	c.607G>A	NM_002457.5	NP_002448.5:p.(Asp203Asn)	NC_000011.9:g.1078320G>A	(Likely) benign	1 lab	b2fcb4dd49
1:20654463 VWA5B1 C>G	1	20654463	20654463	C	G	VWA5B1	c.1224C>G	NM_001039500.3	NP_001034589.2:p.(Ser408Arg)	NC_000001.10:g.20654463C>G	VUS	1 lab	b2fcdfca71
3:9032375 SRGAP3 G>A	3	9032375	9032375	G	A	SRGAP3	c.2707C>T	NM_014850.4	NP_055665.1:p.(Arg903Trp)	NC_000003.11:g.9032375G>A	VUS	1 lab	b2fcf261c4
1:46532657 PIK3R3 G>T	1	46532657	46532657	G	T	PIK3R3	c.421C>A	NM_003629.4	NP_003620.3:p.(His141Asn)	NC_000001.10:g.46532657G>T	(Likely) benign	1 lab	b2fd72a846
7:33644805 BBS9 A>G	7	33644805	33644805	A	G	BBS9	c.2633-2A>G	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33644805A>G	VUS	1 lab	b2fe109afe
16:774691 CCDC78 C>T	16	774691	774691	C	T	CCDC78	c.755G>A	NM_001378030.1	NP_001364959.1:p.(Trp252Ter)	NC_000016.9:g.774691C>T	(Likely) benign	1 lab	b2ff34cb23
6:100911176 SIM1 G>C	6	100911176	100911176	G	C	SIM1	c.169C>G	NM_005068.3	NP_005059.2:p.(Pro57Ala)	NC_000006.11:g.100911176G>C	VUS	1 lab	b301caaf5e
15:63967159 HERC1 TC>T	15	63967159	63967160	TC	T	HERC1	c.7227del	NM_003922.4	NP_003913.3:p.(Ser2410AlafsTer29)	NC_000015.9:g.63967160del	(Likely) pathogenic	1 lab	b301e403f3
X:154158152 F8 G>A	X	154158152	154158152	G	A	F8	c.3913C>T	NM_000132.3	NP_000123.1:p.(Gln1305Ter)	NC_000023.10:g.154158152G>A	(Likely) pathogenic	1 lab	2acd9ccccb
3:170824979 TNIK A>G	3	170824979	170824979	A	G	TNIK	c.2399T>C	NM_015028.4	NP_055843.1:p.(Ile800Thr)	NC_000003.11:g.170824979A>G	VUS	1 lab	b304a57da5
X:37431352 LANCL3 T>C	X	37431352	37431352	T	C	LANCL3	c.229T>C	NM_001170331.2	NP_001163802.1:p.(Tyr77His)	NC_000023.10:g.37431352T>C	(Likely) benign	1 lab	b3056a9150
6:10874568 GCM2 T>G	6	10874568	10874568	T	G	GCM2	c.1181A>C	NM_004752.4	NP_004743.1:p.(Tyr394Ser)	NC_000006.11:g.10874568T>G	VUS	1 lab	b3060ccfa9
X:153035284 PLXNB3 G>A	X	153035284	153035284	G	A	PLXNB3	c.1519G>A	NM_005393.3	NP_005384.2:p.(Gly507Arg)	NC_000023.10:g.153035284G>A	VUS	1 lab	b3060da704
2:16082685 MYCN G>A	2	16082685	16082685	G	A	MYCN	c.499G>A	NM_005378.6	NP_005369.2:p.(Gly167Arg)	NC_000002.11:g.16082685G>A	(Likely) benign	1 lab	b30c289f55
2:216190857 ATIC T>C	2	216190857	216190857	T	C	ATIC	c.527T>C	NM_004044.7	NP_004035.2:p.(Leu176Ser)	NC_000002.11:g.216190857T>C	VUS	1 lab	b30ee8d487
2:176957710 HOXD13 T>TGGC	2	176957710	176957726	T	TGGC	HOXD13	c.106_108dup	NM_000523.4	NP_000514.2:p.(Ala36dup)	NC_000002.11:g.176957724_176957726dup	(Likely) benign	1 lab	b30f9d0f48
4:123128697 BLTP1 G>T	4	123128697	123128697	G	T	BLTP1	c.1656G>T	NM_001384125.1	NP_001371054.1:p.(Val552=)	NC_000004.11:g.123128697G>T	(Likely) benign	1 lab	b313963b5f
10:97396910 ALDH18A1 C>G	10	97396910	97396910	C	G	ALDH18A1	c.498G>C	NM_002860.4	NP_002851.2:p.(Gln166His)	NC_000010.10:g.97396910C>G	VUS	1 lab	b318df383b
17:71192731 COG1 C>T	17	71192731	71192731	C	T	COG1	c.401C>T	NM_018714.3	NP_061184.1:p.(Ser134Leu)	NC_000017.10:g.71192731C>T	(Likely) benign	1 lab	b319a4efe4
14:77767450 POMT2 C>A	14	77767450	77767450	C	A	POMT2	c.799G>T	NM_013382.7	NP_037514.2:p.(Asp267Tyr)	NC_000014.8:g.77767450C>A	VUS	1 lab	b31bd39651
X:48434943 RBM3 C>T	X	48434943	48434943	C	T	RBM3	c.364C>T	NM_006743.5	NP_006734.1:p.(Pro122Ser)	NC_000023.10:g.48434943C>T	(Likely) benign	1 lab	b31d3e2358
5:176721025 NSD1 G>A	5	176721025	176721025	G	A	NSD1	c.6656G>A	NM_022455.5	NP_071900.2:p.(Arg2219His)	NC_000005.9:g.176721025G>A	(Likely) pathogenic	1 lab	b320ce24d6
2:219925116 IHH G>A	2	219925116	219925116	G	A	IHH	c.74C>T	NM_002181.4	NP_002172.2:p.(Ala25Val)	NC_000002.11:g.219925116G>A	VUS	1 lab	b3243c7d49
7:107575934 LAMB1 C>T	7	107575934	107575934	C	T	LAMB1	c.4114G>A	NM_002291.3	NP_002282.2:p.(Glu1372Lys)	NC_000007.13:g.107575934C>T	(Likely) benign	1 lab	b325594858
17:934831 ABR C>CG	17	934831	934834	C	CG	ABR	c.1792-18428dup	NM_021962.5	NP_068781.2:p.?	NC_000017.10:g.934834dup	VUS	1 lab	b325879b13
7:101845221 CUX1 T>C	7	101845221	101845221	T	C	CUX1	c.2644T>C	NM_181552.4	NP_853530.2:p.(Trp882Arg)	NC_000007.13:g.101845221T>C	VUS	1 lab	b325e0ad7a
16:2167682 PKD1 C>T	16	2167682	2167682	C	T	PKD1	c.1202-9G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2167682C>T	(Likely) pathogenic	1 lab	b3266f6c03
20:34241281 RBM12 G>A	20	34241281	34241281	G	A	RBM12	c.1964C>T	NM_006047.6	NP_006038.2:p.(Ala655Val)	NC_000020.10:g.34241281G>A	(Likely) benign	1 lab	b3269bdb5d
6:86284101 SNX14 AAAAT>A	6	86284101	86284109	AAAAT	A	SNX14	c.141-9_141-6del	NM_153816.6	NP_722523.1:p.?	NC_000006.11:g.86284106_86284109del	(Likely) benign	1 lab	b3279d39e4
4:6303788 WFS1 C>T	4	6303788	6303788	C	T	WFS1	c.2266C>T	NM_006005.3	NP_005996.2:p.(Arg756Cys)	NC_000004.11:g.6303788C>T	VUS	1 lab	b328e8acd1
7:6029490 PMS2 A>T	7	6029490	6029490	A	T	PMS2	c.1085T>A	NM_000535.7	NP_000526.2:p.(Met362Lys)	NC_000007.13:g.6029490A>T	VUS	1 lab	b3d13e4cc7
6:70973006 COL9A1 GAA>G	6	70973006	70973014	GAA	G	COL9A1	c.1342-8_1342-7del	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70973013_70973014del	(Likely) benign	1 lab	b329724e08
2:136691500 DARS1 G>A	2	136691500	136691500	G	A	DARS1	c.484C>T	NM_001349.4	NP_001340.2:p.(Pro162Ser)	NC_000002.11:g.136691500G>A	(Likely) benign	1 lab	b32af82046
14:105353148 CEP170B G>A	14	105353148	105353148	G	A	CEP170B	c.2572G>A	NM_001112726.3	NP_001106197.1:p.(Gly858Ser)	NC_000014.8:g.105353148G>A	(Likely) benign	1 lab	b32d171c28
11:1017891 MUC6 G>T	11	1017891	1017891	G	T	MUC6	c.4910C>A	NM_005961.3	NP_005952.2:p.(Ala1637Glu)	NC_000011.9:g.1017891G>T	(Likely) benign	1 lab	b32d2c0530
15:89402026 ACAN T>C	15	89402026	89402026	T	C	ACAN	c.6210T>C	NM_001369268.1	NP_001356197.1:p.(Ser2070=)	NC_000015.9:g.89402026T>C	(Likely) benign	1 lab	b32de08db5
4:84502995 GPAT3 A>G	4	84502995	84502995	A	G	GPAT3	c.479+10A>G	NM_032717.5	NP_116106.2:p.?	NC_000004.11:g.84502995A>G	(Likely) benign	1 lab	b332669b32
3:183490546 YEATS2 T>TACAC	3	183490546	183490566	T	TACAC	YEATS2	c.2206+212_2206+215dup	NM_018023.5	NP_060493.3:p.?	NC_000003.11:g.183490563_183490566dup	(Likely) benign	1 lab	b3331faf08
3:56597766 CCDC66 A>T	3	56597766	56597766	A	T	CCDC66	c.157A>T	NM_001141947.3	NP_001135419.1:p.(Ile53Phe)	NC_000003.11:g.56597766A>T	(Likely) benign	1 lab	b333763441
8:27327348 CHRNA2 C>G	8	27327348	27327348	C	G	CHRNA2	c.224G>C	NM_000742.4	NP_000733.2:p.(Arg75Pro)	NC_000008.10:g.27327348C>G	VUS	1 lab	b333d130d1
3:123419283 MYLK G>A	3	123419283	123419283	G	A	MYLK	c.3032C>T	NM_053025.4	NP_444253.3:p.(Ser1011Phe)	NC_000003.11:g.123419283G>A	(Likely) benign	1 lab	b33601269f
6:51611676 PKHD1 A>G	6	51611676	51611676	A	G	PKHD1	c.9841T>C	NM_138694.4	NP_619639.3:p.(Ser3281Pro)	NC_000006.11:g.51611676A>G	VUS	1 lab	b33920e819
3:49693561 BSN A>ATG	3	49693561	49693563	A	ATG	BSN	c.6573_6574dup	NM_003458.4	NP_003449.2:p.(Gly2192ValfsTer3)	NC_000003.11:g.49693562_49693563dup	VUS	1 lab	b339e44546
6:44272382 AARS2 C>T	6	44272382	44272382	C	T	AARS2	c.1752G>A	NM_020745.4	NP_065796.2:p.(Glu584=)	NC_000006.11:g.44272382C>T	(Likely) benign	1 lab	b33a59b70d
4:6302764 WFS1 C>T	4	6302764	6302764	C	T	WFS1	c.1242C>T	NM_006005.3	NP_005996.2:p.(Phe414=)	NC_000004.11:g.6302764C>T	(Likely) benign	1 lab	b33a8f6add
11:113269682 ANKK1 G>A	11	113269682	113269682	G	A	ANKK1	c.995-4G>A	NM_178510.2	NP_848605.1:p.?	NC_000011.9:g.113269682G>A	(Likely) benign	1 lab	b33ac60484
11:17426179 ABCC8 G>A	11	17426179	17426179	G	A	ABCC8	c.3437C>T	NM_000352.6	NP_000343.2:p.(Thr1146Ile)	NC_000011.9:g.17426179G>A	VUS	1 lab	b33b6ee04a
16:3779241 CREBBP C>T	16	3779241	3779241	C	T	CREBBP	c.5807G>A	NM_004380.3	NP_004371.2:p.(Gly1936Glu)	NC_000016.9:g.3779241C>T	VUS	1 lab	b34b916235
21:38309497 HLCS C>T	21	38309497	38309497	C	T	HLCS	c.689G>A	NM_001352514.2	NP_001339443.1:p.(Ser230Asn)	NC_000021.8:g.38309497C>T	VUS	1 lab	b33ec01026
3:39166887 TTC21A C>A	3	39166887	39166887	C	A	TTC21A	c.1256C>A	NM_001366900.1	NP_001353829.1:p.(Ala419Glu)	NC_000003.11:g.39166887C>A	(Likely) benign	1 lab	b33eee71dc
15:99434798 IGF1R G>T	15	99434798	99434798	G	T	IGF1R	c.885G>T	NM_000875.5	NP_000866.1:p.(Gly295=)	NC_000015.9:g.99434798G>T	(Likely) benign	1 lab	b34074b4bb
7:44192020 GCK G>A	7	44192020	44192020	G	A	GCK	c.213C>T	NM_000162.5	NP_000153.1:p.(Val71=)	NC_000007.13:g.44192020G>A	(Likely) benign	1 lab	b342b3c359
2:171055752 MYO3B A>G	2	171055752	171055752	A	G	MYO3B	c.37A>G	NM_138995.5	NP_620482.3:p.(Met13Val)	NC_000002.11:g.171055752A>G	VUS	1 lab	b3432a85d5
9:116968054 COL27A1 G>C	9	116968054	116968054	G	C	COL27A1	c.2185G>C	NM_032888.4	NP_116277.2:p.(Glu729Gln)	NC_000009.11:g.116968054G>C	(Likely) benign	1 lab	b3446f63b2
10:94366415 KIF11 A>G	10	94366415	94366415	A	G	KIF11	c.250A>G	NM_004523.4	NP_004514.2:p.(Ser84Gly)	NC_000010.10:g.94366415A>G	VUS	1 lab	29078528c0
16:68844220 CDH1 T>G	16	68844220	68844220	T	G	CDH1	c.808T>G	NM_004360.5	NP_004351.1:p.(Ser270Ala)	NC_000016.9:g.68844220T>G	VUS	1 lab	b347db0f5b
15:90191922 KIF7 G>T	15	90191922	90191922	G	T	KIF7	c.1007C>A	NM_198525.3	NP_940927.2:p.(Thr336Asn)	NC_000015.9:g.90191922G>T	VUS	1 lab	b3483db1c3
X:140983264 MAGEC3 G>A	X	140983264	140983264	G	A	MAGEC3	c.1049-7G>A	NM_138702.1	NP_619647.1:p.?	NC_000023.10:g.140983264G>A	(Likely) benign	1 lab	b348bb9253
13:110960298 COL4A2 A>G	13	110960298	110960298	A	G	COL4A2	c.44+4A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.110960298A>G	(Likely) benign	1 lab	b34a17a312
X:118242332 KIAA1210 C>T	X	118242332	118242332	C	T	KIAA1210	c.460G>A	NM_001394962.1	NP_001381891.1:p.(Ala154Thr)	NC_000023.10:g.118242332C>T	(Likely) benign	1 lab	b34a82ff2f
1:229600510 NUP133 C>G	1	229600510	229600510	C	G	NUP133	c.2412G>C	NM_018230.3	NP_060700.2:p.(Gln804His)	NC_000001.10:g.229600510C>G	VUS	1 lab	b34adeb3ff
12:125438422 DHX37 G>A	12	125438422	125438422	G	A	DHX37	c.2695+4C>T	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125438422G>A	(Likely) benign	1 lab	2911c7be24
18:72109196 DIPK1C G>T	18	72109196	72109196	G	T	DIPK1C	c.1032C>A	NM_001044369.3	NP_001037834.2:p.(Asn344Lys)	NC_000018.9:g.72109196G>T	VUS	1 lab	b34b74c6f7
8:104412765 SLC25A32 G>A	8	104412765	104412765	G	A	SLC25A32	c.822C>T	NM_030780.5	NP_110407.2:p.(Gly274=)	NC_000008.10:g.104412765G>A	(Likely) benign	1 lab	b34c0ea5bd
19:57642610 USP29 A>G	19	57642610	57642610	A	G	USP29	c.2567A>G	NM_020903.3	NP_065954.1:p.(Tyr856Cys)	NC_000019.9:g.57642610A>G	VUS	1 lab	b34c5e6b40
22:17590269 IL17RA C>T	22	17590269	17590269	C	T	IL17RA	c.2160C>T	NM_014339.6	NP_055154.3:p.(Pro720=)	NC_000022.10:g.17590269C>T	(Likely) benign	1 lab	2ad2d0aff7
8:145736287 SLC33A2 G>C	8	145736287	145736287	G	C	SLC33A2	c.1065+1G>C	NM_138431.3	NP_612440.1:p.?	NC_000008.10:g.145736287G>C	VUS	1 lab	b35013667e
7:34192880 BMPER C>T	7	34192880	34192880	C	T	BMPER	c.2053C>T	NM_001365308.1	NP_001352237.1:p.(Arg685Trp)	NC_000007.13:g.34192880C>T	VUS	1 lab	b3508c5fc7
12:123001969 RSRC2 C>T	12	123001969	123001969	C	T	RSRC2	c.407G>A	NM_023012.6	NP_075388.2:p.(Arg136His)	NC_000012.11:g.123001969C>T	VUS	1 lab	b350ed31ba
1:151774034 LINGO4 G>C	1	151774034	151774034	G	C	LINGO4	c.1147C>G	NM_001004432.4	NP_001004432.1:p.(Pro383Ala)	NC_000001.10:g.151774034G>C	VUS	1 lab	b35119a30b
9:133914604 LAMC3 G>A	9	133914604	133914604	G	A	LAMC3	c.1252G>A	NM_006059.4	NP_006050.3:p.(Gly418Arg)	NC_000009.11:g.133914604G>A	VUS	1 lab	b351561954
5:7866906 FASTKD3 T>G	5	7866906	7866906	T	G	FASTKD3	c.1291A>C	NM_024091.4	NP_076996.2:p.(Lys431Gln)	NC_000005.9:g.7866906T>G	VUS	1 lab	b35379579b
4:1808427 FGFR3 G>A	4	1808427	1808427	G	A	FGFR3	c.2168+17G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808427G>A	(Likely) benign	1 lab	b353a2a727
6:87965752 ZNF292 A>G	6	87965752	87965752	A	G	ZNF292	c.2405A>G	NM_015021.3	NP_055836.1:p.(Gln802Arg)	NC_000006.11:g.87965752A>G	(Likely) benign	1 lab	b353ac9967
19:41201897 COQ8B G>A	19	41201897	41201897	G	A	COQ8B	c.1206C>T	NM_024876.4	NP_079152.3:p.(Ile402=)	NC_000019.9:g.41201897G>A	(Likely) benign	1 lab	2ad4c3fcc0
21:46875874 COL18A1 G>A	21	46875874	46875874	G	A	COL18A1	c.107-12282G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875874G>A	(Likely) benign	1 lab	b357a28bd6
2:197664225 GTF3C3 T>C	2	197664225	197664225	T	C	GTF3C3	c.102+9A>G	NM_012086.5	NP_036218.1:p.?	NC_000002.11:g.197664225T>C	(Likely) benign	1 lab	b358dbd0d0
9:140063439 LRRC26 C>T	9	140063439	140063439	C	T	LRRC26	c.872G>A	NM_001013653.3	NP_001013675.1:p.(Arg291His)	NC_000009.11:g.140063439C>T	(Likely) benign	1 lab	b35e338287
4:69693242 UGT2B10 T>C	4	69693242	69693242	T	C	UGT2B10	c.1283T>C	NM_001075.6	NP_001066.1:p.(Leu428Pro)	NC_000004.11:g.69693242T>C	VUS	1 lab	b35ec37454
15:99500576 IGF1R C>T	15	99500576	99500576	C	T	IGF1R	c.4009C>T	NM_000875.5	NP_000866.1:p.(Arg1337Cys)	NC_000015.9:g.99500576C>T	VUS	1 lab	b35f515888
7:148904444 ZNF282 C>T	7	148904444	148904444	C	T	ZNF282	c.714C>T	NM_003575.4	NP_003566.1:p.(Asp238=)	NC_000007.13:g.148904444C>T	(Likely) benign	1 lab	b35fb011f6
4:1806574 FGFR3 C>T	4	1806574	1806574	C	T	FGFR3	c.1290C>T	NM_000142.5	NP_000133.1:p.(Ser430=)	NC_000004.11:g.1806574C>T	(Likely) benign	1 lab	b363220f49
19:7119585 INSR G>A	19	7119585	7119585	G	A	INSR	c.3669C>T	NM_000208.4	NP_000199.2:p.(Gly1223=)	NC_000019.9:g.7119585G>A	(Likely) benign	1 lab	b365bfffaf
14:69989048 PLEKHD1 G>A	14	69989048	69989048	G	A	PLEKHD1	c.604G>A	NM_001161498.2	NP_001154970.1:p.(Glu202Lys)	NC_000014.8:g.69989048G>A	VUS	1 lab	b365d64b31
9:418128 DOCK8 C>T	9	418128	418128	C	T	DOCK8	c.3761C>T	NM_203447.4	NP_982272.2:p.(Ala1254Val)	NC_000009.11:g.418128C>T	(Likely) benign	1 lab	b3668ce06d
5:254600 SDHA T>A	5	254600	254600	T	A	SDHA	c.1887T>A	NM_004168.4	NP_004159.2:p.(Tyr629Ter)	NC_000005.9:g.254600T>A	(Likely) pathogenic	1 lab	b3677e3742
X:13337740 ATXN3L T>C	X	13337740	13337740	T	C	ATXN3L	c.314A>G	NM_001135995.2	NP_001129467.1:p.(Asp105Gly)	NC_000023.10:g.13337740T>C	VUS	1 lab	b3688a0312
6:73713704 KCNQ5 A>G	6	73713704	73713704	A	G	KCNQ5	c.472A>G	NM_019842.4	NP_062816.2:p.(Ser158Gly)	NC_000006.11:g.73713704A>G	(Likely) benign	1 lab	b368db8cbb
3:37067099 MLH1 A>ATTT	3	37067099	37067120	A	ATTT	MLH1	c.1039-10_1039-8dup	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067118_37067120dup	(Likely) benign	1 lab	b36a6570a4
17:63532618 AXIN2 C>T	17	63532618	63532618	C	T	AXIN2	c.1961G>A	NM_004655.4	NP_004646.3:p.(Gly654Asp)	NC_000017.10:g.63532618C>T	VUS	1 lab	b36ab6a1e1
4:149075914 NR3C2 G>A	4	149075914	149075914	G	A	NR3C2	c.2153C>T	NM_000901.5	NP_000892.2:p.(Ser718Leu)	NC_000004.11:g.149075914G>A	(Likely) benign	1 lab	b36d5a9608
19:55670438 DNAAF3 C>T	19	55670438	55670438	C	T	DNAAF3	c.1618G>A	NM_001256715.2	NP_001243644.1:p.(Gly540Arg)	NC_000019.9:g.55670438C>T	VUS	1 lab	b36d703f4c
15:44912446 SPG11 TAATAACATCAACAGTCAGA>T	15	44912446	44912466	TAATAACATCAACAGTCAGA	T	SPG11	c.2757_2775del	NM_025137.4	NP_079413.3:p.(Leu920ThrfsTer10)	NC_000015.9:g.44912448_44912466del	VUS	1 lab	b3742f1e32
1:155288071 FDPS C>G	1	155288071	155288071	C	G	FDPS	c.673C>G	NM_002004.4	NP_001995.1:p.(Leu225Val)	NC_000001.10:g.155288071C>G	(Likely) benign	1 lab	b3744528b8
12:46211674 ARID2 A>G	12	46211674	46211674	A	G	ARID2	c.637+3A>G	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46211674A>G	(Likely) benign	1 lab	b3760de4fd
12:51102323 DIP2B A>G	12	51102323	51102323	A	G	DIP2B	c.2627A>G	NM_173602.3	NP_775873.2:p.(Gln876Arg)	NC_000012.11:g.51102323A>G	VUS	1 lab	b3764e5046
2:241631459 AQP12A T>C	2	241631459	241631459	T	C	AQP12A	c.123+6T>C	NM_198998.3	NP_945349.1:p.?	NC_000002.11:g.241631459T>C	(Likely) benign	1 lab	b3768d7e4f
1:97770821 DPYD C>T	1	97770821	97770821	C	T	DPYD	c.2293G>A	NM_000110.4	NP_000101.2:p.(Val765Met)	NC_000001.10:g.97770821C>T	VUS	1 lab	b376c88dfc
2:152403994 NEB T>A	2	152403994	152403994	T	A	NEB	c.20316A>T	NM_001164508.2	NP_001157980.2:p.(Pro6772=)	NC_000002.11:g.152403994T>A	VUS	1 lab	b377481930
14:50300177 NEMF T>G	14	50300177	50300177	T	G	NEMF	c.699A>C	NM_004713.6	NP_004704.3:p.(Glu233Asp)	NC_000014.8:g.50300177T>G	VUS	1 lab	b37d1b4dc9
1:22447938 WNT4 C>G	1	22447938	22447938	C	G	WNT4	c.445G>C	NM_030761.5	NP_110388.2:p.(Gly149Arg)	NC_000001.10:g.22447938C>G	VUS	1 lab	b37eb2f86f
11:62287945 AHNAK C>A	11	62287945	62287945	C	A	AHNAK	c.13944G>T	NM_001620.3	NP_001611.1:p.(Trp4648Cys)	NC_000011.9:g.62287945C>A	VUS	1 lab	b37fe442d5
17:17701442 RAI1 G>A	17	17701442	17701442	G	A	RAI1	c.5180G>A	NM_030665.4	NP_109590.3:p.(Gly1727Asp)	NC_000017.10:g.17701442G>A	(Likely) benign	1 lab	b3801363a1
8:120847182 DSCC1 G>A	8	120847182	120847182	G	A	DSCC1	c.1133C>T	NM_024094.3	NP_076999.2:p.(Ser378Leu)	NC_000008.10:g.120847182G>A	(Likely) benign	1 lab	b3807d217b
1:154543919 CHRNB2 C>G	1	154543919	154543919	C	G	CHRNB2	c.620C>G	NM_000748.3	NP_000739.1:p.(Ala207Gly)	NC_000001.10:g.154543919C>G	VUS	1 lab	b382e29a11
1:35250432 GJB3 C>G	1	35250432	35250432	C	G	GJB3	c.69C>G	NM_024009.3	NP_076872.1:p.(Ile23Met)	NC_000001.10:g.35250432C>G	VUS	1 lab	b383efd4ba
1:95538424 ALG14 C>T	1	95538424	95538424	C	T	ALG14	c.31G>A	NM_144988.4	NP_659425.1:p.(Ala11Thr)	NC_000001.10:g.95538424C>T	(Likely) benign	1 lab	b38567f399
15:40917158 KNL1 G>T	15	40917158	40917158	G	T	KNL1	c.4696G>T	NM_144508.5	NP_653091.3:p.(Gly1566Ter)	NC_000015.9:g.40917158G>T	(Likely) pathogenic	1 lab	b386269a41
19:14674625 TECR G>A	19	14674625	14674625	G	A	TECR	c.177G>A	NM_138501.6	NP_612510.1:p.(Leu59=)	NC_000019.9:g.14674625G>A	VUS	1 lab	b387b0cae0
15:65369268 KBTBD13 G>C	15	65369268	65369268	G	C	KBTBD13	c.115G>C	NM_001101362.3	NP_001094832.1:p.(Gly39Arg)	NC_000015.9:g.65369268G>C	(Likely) benign	1 lab	b387ee098f
15:41810019 RPAP1 T>C	15	41810019	41810019	T	C	RPAP1	c.4009A>G	NM_015540.4	NP_056355.2:p.(Lys1337Glu)	NC_000015.9:g.41810019T>C	VUS	1 lab	b3899662ee
5:169021233 SPDL1 G>A	5	169021233	169021233	G	A	SPDL1	c.616G>A	NM_017785.5	NP_060255.3:p.(Asp206Asn)	NC_000005.9:g.169021233G>A	VUS	1 lab	b389e84668
2:216931133 PECR T>G	2	216931133	216931133	T	G	PECR	c.233A>C	NM_018441.6	NP_060911.2:p.(Gln78Pro)	NC_000002.11:g.216931133T>G	(Likely) benign	1 lab	b38a812f35
11:113105749 NCAM1 T>A	11	113105749	113105749	T	A	NCAM1	c.1694-6T>A	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113105749T>A	VUS	1 lab	b38c97e594
16:2141497 PKD1 A>G	16	2141497	2141497	A	G	PKD1	c.11639T>C	NM_001009944.3	NP_001009944.3:p.(Leu3880Pro)	NC_000016.9:g.2141497A>G	(Likely) pathogenic	1 lab	b38d9e1256
17:48271741 COL1A1 C>T	17	48271741	48271741	C	T	COL1A1	c.1583G>A	NM_000088.4	NP_000079.2:p.(Arg528His)	NC_000017.10:g.48271741C>T	VUS	1 lab	b38d9e67b6
4:5731074 EVC C>T	4	5731074	5731074	C	T	EVC	c.341C>T	NM_153717.3	NP_714928.1:p.(Ala114Val)	NC_000004.11:g.5731074C>T	(Likely) benign	1 lab	b38e715da3
X:69496342 ARR3 G>C	X	69496342	69496342	G	C	ARR3	c.405G>C	NM_004312.3	NP_004303.2:p.(Lys135Asn)	NC_000023.10:g.69496342G>C	(Likely) benign	1 lab	b38f11fd10
X:20033400 MAP7D2 G>A	X	20033400	20033400	G	A	MAP7D2	c.1690C>T	NM_001168465.2	NP_001161937.1:p.(Arg564Cys)	NC_000023.10:g.20033400G>A	(Likely) benign	1 lab	b38f5944b2
9:133370287 ASS1 G>A	9	133370287	133370287	G	A	ASS1	c.1004G>A	NM_054012.4	NP_446464.1:p.(Arg335His)	NC_000009.11:g.133370287G>A	VUS	1 lab	b38f681432
12:65137025 GNS C>T	12	65137025	65137025	C	T	GNS	c.688G>A	NM_002076.4	NP_002067.1:p.(Ala230Thr)	NC_000012.11:g.65137025C>T	(Likely) benign	1 lab	b38f71e4b1
20:31017790 ASXL1 C>A	20	31017790	31017790	C	A	ASXL1	c.652C>A	NM_015338.6	NP_056153.2:p.(Arg218Ser)	NC_000020.10:g.31017790C>A	(Likely) benign	1 lab	b38fcfd974
9:98209625 PTCH1 C>T	9	98209625	98209625	C	T	PTCH1	c.3913G>A	NM_000264.5	NP_000255.2:p.(Asp1305Asn)	NC_000009.11:g.98209625C>T	VUS	1 lab	b38ff58fbf
14:74036552 ACOT2 T>C	14	74036552	74036552	T	C	ACOT2	c.608T>C	NM_006821.6	NP_006812.3:p.(Val203Ala)	NC_000014.8:g.74036552T>C	(Likely) benign	1 lab	b390be08bb
1:176709309 PAPPA2 G>C	1	176709309	176709309	G	C	PAPPA2	c.4128G>C	NM_020318.3	NP_064714.2:p.(Glu1376Asp)	NC_000001.10:g.176709309G>C	(Likely) benign	1 lab	b391741d22
6:83884167 PGM3 ATTGTT>A	6	83884167	83884174	ATTGTT	A	PGM3	c.1163_1167del	NM_015599.3	NP_056414.1:p.(Lys388IlefsTer8)	NC_000006.11:g.83884170_83884174del	VUS	1 lab	b397d1b22e
7:92875395 VPS50 CT>C	7	92875395	92875406	CT	C	VPS50	c.102+6159del	NM_017667.4	NP_060137.2:p.?	NC_000007.13:g.92875406del	(Likely) benign	1 lab	b3988c9157
6:117245888 RFX6 A>T	6	117245888	117245888	A	T	RFX6	c.1612A>T	NM_173560.4	NP_775831.2:p.(Thr538Ser)	NC_000006.11:g.117245888A>T	VUS	1 lab	b398da21a9
12:112690224 HECTD4 G>A	12	112690224	112690224	G	A	HECTD4	c.3552+4C>T	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112690224G>A	VUS	1 lab	b398fd1be8
9:133250947 HMCN2 C>G	9	133250947	133250947	C	G	HMCN2	c.7631-3C>G	NM_001291815.2	NP_001278744.1:p.?	NC_000009.11:g.133250947C>G	VUS	1 lab	b39ad5093f
6:167438276 CEP43 G>T	6	167438276	167438276	G	T	CEP43	c.813G>T	NM_007045.4	NP_008976.1:p.(Lys271Asn)	NC_000006.11:g.167438276G>T	(Likely) benign	1 lab	b39b67370d
17:7311854 NLGN2 C>A	17	7311854	7311854	C	A	NLGN2	c.280C>A	NM_020795.4	NP_065846.1:p.(Pro94Thr)	NC_000017.10:g.7311854C>A	(Likely) benign	1 lab	b39c3cc763
13:113978841 GRTP1 G>A	13	113978841	113978841	G	A	GRTP1	c.973C>T	NM_024719.4	NP_078995.2:p.(Arg325Cys)	NC_000013.10:g.113978841G>A	(Likely) benign	1 lab	b39d321a50
22:26239698 MYO18B C>T	22	26239698	26239698	C	T	MYO18B	c.3209-4C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26239698C>T	(Likely) benign	1 lab	b39ec079ab
8:118849376 EXT1 C>T	8	118849376	118849376	C	T	EXT1	c.1027G>A	NM_000127.3	NP_000118.2:p.(Gly343Arg)	NC_000008.10:g.118849376C>T	(Likely) pathogenic	1 lab	b39ecc8041
16:2166611 PKD1 T>TC	16	2166611	2166614	T	TC	PKD1	c.1640dup	NM_001009944.2	NP_001009944.2:p.(Ala548SerfsTer39)	NC_000016.9:g.2166614dup	(Likely) pathogenic	1 lab	2ad763e5f0
12:112308870 MAPKAPK5 C>CT	12	112308870	112308880	C	CT	MAPKAPK5	c.484-9dup	NM_003668.4	NP_003659.2:p.?	NC_000012.11:g.112308880dup	(Likely) benign	1 lab	b39f44c439
1:3755614 CEP104 C>T	1	3755614	3755614	C	T	CEP104	c.805G>A	NM_014704.4	NP_055519.1:p.(Ala269Thr)	NC_000001.10:g.3755614C>T	VUS	1 lab	b39f4f4076
5:126734483 MEGF10 T>A	5	126734483	126734483	T	A	MEGF10	c.775T>A	NM_001256545.2	NP_001243474.1:p.(Trp259Arg)	NC_000005.9:g.126734483T>A	VUS	1 lab	b3a0ee32ea
16:30750702 SRCAP C>G	16	30750702	30750702	C	G	SRCAP	c.9341C>G	NM_006662.3	NP_006653.2:p.(Thr3114Ser)	NC_000016.9:g.30750702C>G	VUS	1 lab	b3a26c755d
2:179452158 TTN T>C	2	179452158	179452158	T	C	TTN	c.63794-14A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179452158T>C	(Likely) benign	1 lab	b3a301a099
5:60834747 ZSWIM6 A>G	5	60834747	60834747	A	G	ZSWIM6	c.2488A>G	NM_020928.2	NP_065979.1:p.(Ile830Val)	NC_000005.9:g.60834747A>G	VUS	1 lab	b3a54d07e6
3:124951412 ZNF148 C>T	3	124951412	124951412	C	T	ZNF148	c.2158G>A	NM_021964.3	NP_068799.2:p.(Val720Ile)	NC_000003.11:g.124951412C>T	(Likely) benign	1 lab	b3a56c7a43
17:38975259 KRT10 C>T	17	38975259	38975259	C	T	KRT10	c.1528G>A	NM_000421.5	NP_000412.4:p.(Gly510Ser)	NC_000017.10:g.38975259C>T	(Likely) benign	1 lab	b3a66d0c9f
8:135669864 ZFAT T>C	8	135669864	135669864	T	C	ZFAT	c.136A>G	NM_020863.4	NP_065914.2:p.(Ile46Val)	NC_000008.10:g.135669864T>C	VUS	1 lab	b3a8a98b02
1:26138042 SELENON G>C	1	26138042	26138042	G	C	SELENON	c.990+16G>C	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26138042G>C	(Likely) benign	1 lab	b3a8b9541d
7:21789835 DNAH11 G>A	7	21789835	21789835	G	A	DNAH11	c.8798-5G>A	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21789835G>A	(Likely) benign	1 lab	b3ab9e43e6
2:179547547 TTN C>T	2	179547547	179547547	C	T	TTN	c.32971G>A	NM_001267550.2	NP_001254479.2:p.(Glu10991Lys)	NC_000002.11:g.179547547C>T	VUS	1 lab	b3ac9b1a73
X:118221490 KIAA1210 T>C	X	118221490	118221490	T	C	KIAA1210	c.3175A>G	NM_001394962.1	NP_001381891.1:p.(Lys1059Glu)	NC_000023.10:g.118221490T>C	VUS	1 lab	b3adaa557d
15:89402228 ACAN G>A	15	89402228	89402228	G	A	ACAN	c.6412G>A	NM_001369268.1	NP_001356197.1:p.(Glu2138Lys)	NC_000015.9:g.89402228G>A	(Likely) benign	1 lab	b3b23b3794
2:200213537 SATB2 T>C	2	200213537	200213537	T	C	SATB2	c.1060A>G	NM_001172509.2	NP_001165980.1:p.(Thr354Ala)	NC_000002.11:g.200213537T>C	(Likely) benign	1 lab	b3b347472e
X:153416346 OPN1LW A>G	X	153416346	153416346	A	G	OPN1LW	c.331A>G	NM_020061.6	NP_064445.2:p.(Ile111Val)	NC_000023.10:g.153416346A>G	(Likely) benign	1 lab	b3b37e967a
X:54048758 PHF8 TTGTG>T	X	54048758	54048765	TTGTG	T	PHF8	c.223_226del	NM_015107.3	NP_055922.1:p.(His75ArgfsTer5)	NC_000023.10:g.54048762_54048765del	(Likely) pathogenic	1 lab	b3b402f92d
9:100451889 XPA C>T	9	100451889	100451889	C	T	XPA	c.316G>A	NM_000380.4	NP_000371.1:p.(Glu106Lys)	NC_000009.11:g.100451889C>T	VUS	1 lab	b3b4155c1f
8:100673695 VPS13B A>T	8	100673695	100673695	A	T	VPS13B	c.6022A>T	NM_152564.5	NP_689777.3:p.(Ile2008Phe)	NC_000008.10:g.100673695A>T	VUS	1 lab	b3b519c964
19:47865756 DHX34 G>T	19	47865756	47865756	G	T	DHX34	c.1399G>T	NM_014681.6	NP_055496.2:p.(Asp467Tyr)	NC_000019.9:g.47865756G>T	VUS	1 lab	b3b8e07f78
14:78744993 NRXN3 A>G	14	78744993	78744993	A	G	NRXN3	c.715A>G	NM_001330195.2	NP_001317124.1:p.(Ser239Gly)	NC_000014.8:g.78744993A>G	VUS	1 lab	b3ba28da23
13:111082901 COL4A2 G>A	13	111082901	111082901	G	A	COL4A2	c.595G>A	NM_001846.4	NP_001837.2:p.(Gly199Ser)	NC_000013.10:g.111082901G>A	(Likely) pathogenic	1 lab	b3bbf66d6e
6:116441661 COL10A1 CAA>C	6	116441661	116441663	CAA	C	COL10A1	c.1616_1617del	NM_000493.4	NP_000484.2:p.(Leu539ArgfsTer2)	NC_000006.11:g.116441662_116441663del	(Likely) pathogenic	1 lab	b3bc550545
11:16362688 SOX6 T>G	11	16362688	16362688	T	G	SOX6	c.107A>C	NM_001367873.1	NP_001354802.1:p.(His36Pro)	NC_000011.9:g.16362688T>G	VUS	1 lab	b3bd339e05
22:37466989 TMPRSS6 C>T	22	37466989	37466989	C	T	TMPRSS6	c.1639G>A	NM_001374504.1	NP_001361433.1:p.(Asp547Asn)	NC_000022.10:g.37466989C>T	VUS	1 lab	b3bd6882ee
11:69951860 ANO1 A>T	11	69951860	69951860	A	T	ANO1	c.713A>T	NM_018043.7	NP_060513.5:p.(Asp238Val)	NC_000011.9:g.69951860A>T	VUS	1 lab	b3bedb0730
16:2160462 PKD1 C>T	16	2160462	2160462	C	T	PKD1	c.4706G>A	NM_001009944.3	NP_001009944.3:p.(Ser1569Asn)	NC_000016.9:g.2160462C>T	(Likely) benign	1 lab	b3bf8ddf18
15:48829976 FBN1 T>A	15	48829976	48829976	T	A	FBN1	c.568A>T	NM_000138.5	NP_000129.3:p.(Ile190Phe)	NC_000015.9:g.48829976T>A	VUS	1 lab	b3bff2a8df
10:71008373 HKDC1 G>A	10	71008373	71008373	G	A	HKDC1	c.1459G>A	NM_025130.4	NP_079406.4:p.(Val487Met)	NC_000010.10:g.71008373G>A	VUS	1 lab	b3c057a128
8:145150889 CYC1 C>T	8	145150889	145150889	C	T	CYC1	c.283C>T	NM_001916.5	NP_001907.3:p.(Pro95Ser)	NC_000008.10:g.145150889C>T	(Likely) benign	1 lab	b3c08c7571
1:200974051 KIF21B G>A	1	200974051	200974051	G	A	KIF21B	c.743C>T	NM_001252102.2	NP_001239031.1:p.(Ala248Val)	NC_000001.10:g.200974051G>A	(Likely) benign	1 lab	b3c0b0c800
19:50100100 PRR12 TCC>T	19	50100100	50100102	TCC	T	PRR12	c.2509_2510del	NM_020719.3	NP_065770.1:p.(Pro837ThrfsTer99)	NC_000019.9:g.50100101_50100102del	(Likely) benign	1 lab	b3c2a44523
2:96780597 ADRA2B C>T	2	96780597	96780597	C	T	ADRA2B	c.1301G>A	NM_000682.7	NP_000673.2:p.(Arg434His)	NC_000002.11:g.96780597C>T	VUS	1 lab	b3c2a9eabd
5:149360900 SLC26A2 C>T	5	149360900	149360900	C	T	SLC26A2	c.1744C>T	NM_000112.4	NP_000103.2:p.(Arg582Cys)	NC_000005.9:g.149360900C>T	VUS	1 lab	b3c2eaca2b
12:125461947 DHX37 C>G	12	125461947	125461947	C	G	DHX37	c.828G>C	NM_032656.4	NP_116045.2:p.(Glu276Asp)	NC_000012.11:g.125461947C>G	VUS	1 lab	b3c566d574
4:170618845 CLCN3 T>C	4	170618845	170618845	T	C	CLCN3	c.1523T>C	NM_001829.4	NP_001820.2:p.(Ile508Thr)	NC_000004.11:g.170618845T>C	VUS	1 lab	b3c5bc719c
11:17415800 ABCC8 G>A	11	17415800	17415800	G	A	ABCC8	c.4545+13C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17415800G>A	(Likely) benign	1 lab	b3c7466d98
21:46011414 TSPEAR C>T	21	46011414	46011414	C	T	TSPEAR	c.83-23525G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46011414C>T	(Likely) benign	1 lab	b3c8e59e51
7:81372705 HGF G>A	7	81372705	81372705	G	A	HGF	c.829C>T	NM_000601.6	NP_000592.3:p.(His277Tyr)	NC_000007.13:g.81372705G>A	VUS	1 lab	b3c934d51a
8:118819580 EXT1 CAG>C	8	118819580	118819582	CAG	C	EXT1	c.1757_1758del	NM_000127.3	NP_000118.2:p.(Pro586ArgfsTer15)	NC_000008.10:g.118819581_118819582del	(Likely) pathogenic	1 lab	b3cb59eca2
10:69991251 ATOH7 G>T	10	69991251	69991251	G	T	ATOH7	c.184C>A	NM_145178.4	NP_660161.1:p.(Arg62Ser)	NC_000010.10:g.69991251G>T	VUS	1 lab	b3cc2e4dd8
19:5720071 LONP1 C>G	19	5720071	5720071	C	G	LONP1	c.73G>C	NM_004793.4	NP_004784.2:p.(Ala25Pro)	NC_000019.9:g.5720071C>G	VUS	1 lab	b3cc3b955a
1:245026966 HNRNPU T>G	1	245026966	245026966	T	G	HNRNPU	c.644A>C	NM_031844.3	NP_114032.2:p.(Lys215Thr)	NC_000001.10:g.245026966T>G	(Likely) benign	1 lab	b3cc42df12
5:132083357 CCNI2 C>T	5	132083357	132083357	C	T	CCNI2	c.170C>T	NM_001039780.4	NP_001034869.1:p.(Pro57Leu)	NC_000005.9:g.132083357C>T	(Likely) benign	1 lab	b3ccdb1805
9:21334296 KLHL9 C>A	9	21334296	21334296	C	A	KLHL9	c.563G>T	NM_018847.4	NP_061335.1:p.(Gly188Val)	NC_000009.11:g.21334296C>A	VUS	1 lab	b3ce401032
2:197184078 HECW2 AG>A	2	197184078	197184081	AG	A	HECW2	c.1535del	NM_001348768.2	NP_001335697.1:p.(Pro512LeufsTer62)	NC_000002.11:g.197184081del	VUS	1 lab	b3cee74e57
4:2833337 SH3BP2 C>T	4	2833337	2833337	C	T	SH3BP2	c.1365C>T	NM_001145855.2	NP_001139327.1:p.(Ser455=)	NC_000004.11:g.2833337C>T	(Likely) benign	1 lab	2ada160056
X:30261241 MAGEB4 T>C	X	30261241	30261241	T	C	MAGEB4	c.989T>C	NM_002367.4	NP_002358.1:p.(Met330Thr)	NC_000023.10:g.30261241T>C	(Likely) benign	1 lab	b3d31cad0f
21:38311279 HLCS C>G	21	38311279	38311279	C	G	HLCS	c.346G>C	NM_001352514.2	NP_001339443.1:p.(Asp116His)	NC_000021.8:g.38311279C>G	VUS	1 lab	b3d31ef631
6:7230198 RREB1 A>T	6	7230198	7230198	A	T	RREB1	c.1866A>T	NM_001003699.4	NP_001003699.1:p.(Glu622Asp)	NC_000006.11:g.7230198A>T	(Likely) benign	1 lab	b3d4c1e2fb
5:127516637 SLC12A2 A>G	5	127516637	127516637	A	G	SLC12A2	c.3163A>G	NM_001046.3	NP_001037.1:p.(Arg1055Gly)	NC_000005.9:g.127516637A>G	VUS	1 lab	b3d50ad947
3:123359158 MYLK C>T	3	123359158	123359158	C	T	MYLK	c.4813G>A	NM_053025.3	NP_444253.3:p.(Asp1605Asn)	NC_000003.11:g.123359158C>T	VUS	1 lab	2adc3680bd
2:150432284 MMADHC T>C	2	150432284	150432284	T	C	MMADHC	c.550A>G	NM_015702.3	NP_056517.1:p.(Asn184Asp)	NC_000002.11:g.150432284T>C	VUS	1 lab	b3d66b9173
1:76205798 ACADM A>G	1	76205798	76205798	A	G	ACADM	c.599+3A>G	NM_000016.6	NP_000007.1:p.?	NC_000001.10:g.76205798A>G	VUS	1 lab	b3d6ae65cf
3:4726748 ITPR1 A>G	3	4726748	4726748	A	G	ITPR1	c.3565-5A>G	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4726748A>G	(Likely) benign	1 lab	b3d6e1037b
22:50898570 SBF1 G>T	22	50898570	50898570	G	T	SBF1	c.3302C>A	NM_002972.4	NP_002963.2:p.(Pro1101His)	NC_000022.10:g.50898570G>T	VUS	1 lab	b3d7b37323
6:43738476 VEGFA C>A	6	43738476	43738476	C	A	VEGFA	c.33C>A	NM_003376.6	NP_003367.4:p.(Ser11Arg)	NC_000006.11:g.43738476C>A	VUS	1 lab	b3d7d1c4f3
4:159590834 C4orf46 AT>A	4	159590834	159590838	AT	A	C4orf46	c.272del	NM_001008393.4	NP_001008394.1:p.(Asn91MetfsTer12)	NC_000004.11:g.159590838del	VUS	1 lab	b3d9889203
1:12418603 VPS13D C>T	1	12418603	12418603	C	T	VPS13D	c.10087C>T	NM_015378.4	NP_056193.2:p.(Arg3363Ter)	NC_000001.10:g.12418603C>T	VUS	1 lab	b3db96a321
2:220422190 OBSL1 C>T	2	220422190	220422190	C	T	OBSL1	c.3941G>A	NM_015311.3	NP_056126.1:p.(Arg1314Gln)	NC_000002.11:g.220422190C>T	VUS	1 lab	b3dc4baa23
2:37230783 HEATR5B G>C	2	37230783	37230783	G	C	HEATR5B	c.4952C>G	NM_019024.3	NP_061897.1:p.(Thr1651Ser)	NC_000002.11:g.37230783G>C	VUS	1 lab	b3dc738752
20:62305329 RTEL1 A>G	20	62305329	62305329	A	G	RTEL1	c.802A>G	NM_001283009.2	NP_001269938.1:p.(Thr268Ala)	NC_000020.10:g.62305329A>G	VUS	1 lab	b3dd6b56f6
17:15983966 NCOR1 A>C	17	15983966	15983966	A	C	NCOR1	c.3253T>G	NM_006311.4	NP_006302.2:p.(Ser1085Ala)	NC_000017.10:g.15983966A>C	VUS	1 lab	b3df00b7aa
22:21130211 SERPIND1 TAC>T	22	21130211	21130216	TAC	T	SERPIND1	c.-17+1782_-17+1783del	NM_000185.4	NP_000176.2:p.?	NC_000022.10:g.21130215_21130216del	VUS	1 lab	b3df60cb73
2:111408119 BUB1 G>A	2	111408119	111408119	G	A	BUB1	c.2203+4C>T	NM_004336.5	NP_004327.1:p.?	NC_000002.11:g.111408119G>A	VUS	1 lab	b3dfb0862d
17:44260940 KANSL1 A>G	17	44260940	44260940	A	G	KANSL1	c.-90+9249T>C	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44260940A>G	(Likely) benign	1 lab	b3e0b66aae
15:89386771 ACAN C>T	15	89386771	89386771	C	T	ACAN	c.943C>T	NM_001369268.1	NP_001356197.1:p.(Arg315Trp)	NC_000015.9:g.89386771C>T	VUS	1 lab	b3e1e9de2b
13:23912614 SACS A>C	13	23912614	23912614	A	C	SACS	c.5401T>G	NM_014363.6	NP_055178.3:p.(Ser1801Ala)	NC_000013.10:g.23912614A>C	VUS	1 lab	b3e438a18f
16:88773594 CTU2 T>A	16	88773594	88773594	T	A	CTU2	c.119T>A	NM_001012759.3	NP_001012777.1:p.(Ile40Lys)	NC_000016.9:g.88773594T>A	VUS	1 lab	b3e51481e0
13:32913118 BRCA2 G>GA	13	32913118	32913123	G	GA	BRCA2	c.4631dup	NM_000059.4	NP_000050.3:p.(Asn1544LysfsTer4)	NC_000013.10:g.32913123dup	(Likely) pathogenic	1 lab	b3e737c613
5:176637820 NSD1 A>G	5	176637820	176637820	A	G	NSD1	c.2420A>G	NM_022455.5	NP_071900.2:p.(Asn807Ser)	NC_000005.9:g.176637820A>G	(Likely) benign	1 lab	b3ea57c158
1:176563681 PAPPA2 A>T	1	176563681	176563681	A	T	PAPPA2	c.941A>T	NM_020318.3	NP_064714.2:p.(His314Leu)	NC_000001.10:g.176563681A>T	VUS	1 lab	b3eb90966c
9:133944413 LAMC3 G>A	9	133944413	133944413	G	A	LAMC3	c.2866G>A	NM_006059.4	NP_006050.3:p.(Gly956Ser)	NC_000009.11:g.133944413G>A	VUS	1 lab	b3ec255350
17:7749716 KDM6B A>C	17	7749716	7749716	A	C	KDM6B	c.457-2A>C	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7749716A>C	(Likely) benign	1 lab	b3ed144a40
1:27089634 ARID1A G>A	1	27089634	27089634	G	A	ARID1A	c.2590G>A	NM_006015.6	NP_006006.3:p.(Gly864Ser)	NC_000001.10:g.27089634G>A	VUS	1 lab	b3ee91f25c
6:117841114 DCBLD1 G>A	6	117841114	117841114	G	A	DCBLD1	c.460+1G>A	NM_001366458.2	NP_001353387.1:p.?	NC_000006.11:g.117841114G>A	VUS	1 lab	b3f077fe0d
1:237753221 RYR2 A>C	1	237753221	237753221	A	C	RYR2	c.3727A>C	NM_001035.3	NP_001026.2:p.(Thr1243Pro)	NC_000001.10:g.237753221A>C	VUS	1 lab	b3f122e0f5
5:177580794 NHP2 C>T	5	177580794	177580794	C	T	NHP2	c.25G>A	NM_017838.4	NP_060308.1:p.(Asp9Asn)	NC_000005.9:g.177580794C>T	(Likely) benign	1 lab	b3f14b284b
19:11548728 PRKCSH C>G	19	11548728	11548728	C	G	PRKCSH	c.228C>G	NM_001289104.2	NP_001276033.1:p.(His76Gln)	NC_000019.9:g.11548728C>G	VUS	1 lab	b3f1cb9758
15:64041905 HERC1 G>C	15	64041905	64041905	G	C	HERC1	c.1988C>G	NM_003922.4	NP_003913.3:p.(Ala663Gly)	NC_000015.9:g.64041905G>C	(Likely) benign	1 lab	b3f2408b9d
2:200320611 SATB2 G>T	2	200320611	200320611	G	T	SATB2	c.150C>A	NM_001172509.2	NP_001165980.1:p.(Ala50=)	NC_000002.11:g.200320611G>T	(Likely) benign	1 lab	b3f7d8a02c
2:179518163 TTN G>A	2	179518163	179518163	G	A	TTN	c.38698C>T	NM_001267550.2	NP_001254479.2:p.(Pro12900Ser)	NC_000002.11:g.179518163G>A	(Likely) benign	1 lab	b3f87d0576
8:6372233 ANGPT2 C>T	8	6372233	6372233	C	T	ANGPT2	c.994G>A	NM_001118887.2	NP_001112359.1:p.(Val332Ile)	NC_000008.10:g.6372233C>T	(Likely) benign	1 lab	b3fc9f4a6b
16:2165469 PKD1 G>A	16	2165469	2165469	G	A	PKD1	c.2007C>T	NM_001009944.3	NP_001009944.3:p.(Cys669=)	NC_000016.9:g.2165469G>A	(Likely) benign	1 lab	b3fe581677
X:114414007 LRCH2 G>C	X	114414007	114414007	G	C	LRCH2	c.847C>G	NM_020871.4	NP_065922.3:p.(Gln283Glu)	NC_000023.10:g.114414007G>C	VUS	1 lab	b3fe928d99
18:2750449 SMCHD1 G>A	18	2750449	2750449	G	A	SMCHD1	c.4109G>A	NM_015295.3	NP_056110.2:p.(Arg1370His)	NC_000018.9:g.2750449G>A	VUS	1 lab	b3ff739bc6
10:25701295 GPR158 G>A	10	25701295	25701295	G	A	GPR158	c.1228G>A	NM_020752.3	NP_065803.2:p.(Val410Ile)	NC_000010.10:g.25701295G>A	VUS	1 lab	b3ffd0eb7a
4:103826685 SLC9B1 T>A	4	103826685	103826685	T	A	SLC9B1	c.1318A>T	NM_139173.4	NP_631912.3:p.(Lys440Ter)	NC_000004.11:g.103826685T>A	(Likely) benign	1 lab	b4004dd466
3:124731553 HEG1 G>A	3	124731553	124731553	G	A	HEG1	c.2870C>T	NM_020733.2	NP_065784.1:p.(Thr957Met)	NC_000003.11:g.124731553G>A	(Likely) benign	1 lab	b4006448f5
1:152279707 FLG C>T	1	152279707	152279707	C	T	FLG	c.7655G>A	NM_002016.2	NP_002007.1:p.(Gly2552Glu)	NC_000001.10:g.152279707C>T	(Likely) benign	1 lab	b409065e9d
1:205763990 SLC41A1 C>T	1	205763990	205763990	C	T	SLC41A1	c.1356+8G>A	NM_173854.6	NP_776253.3:p.?	NC_000001.10:g.205763990C>T	(Likely) benign	1 lab	2adf11cc4c
22:37462939 TMPRSS6 T>G	22	37462939	37462939	T	G	TMPRSS6	c.2177A>C	NM_001374504.1	NP_001361433.1:p.(Glu726Ala)	NC_000022.10:g.37462939T>G	VUS	1 lab	b4026b13c2
1:168065738 GPR161 C>G	1	168065738	168065738	C	G	GPR161	c.1099+8G>C	NM_001375883.1	NP_001362812.1:p.?	NC_000001.10:g.168065738C>G	(Likely) benign	1 lab	b402e8e3be
10:79759845 POLR3A C>T	10	79759845	79759845	C	T	POLR3A	c.2510G>A	NM_007055.4	NP_008986.2:p.(Ser837Asn)	NC_000010.10:g.79759845C>T	VUS	1 lab	b402f2294a
11:2182107 INS C>A	11	2182107	2182107	C	A	INS	c.95G>T	NM_000207.3	NP_000198.1:p.(Gly32Val)	NC_000011.9:g.2182107C>A	VUS	1 lab	b49ef80f56
10:103454138 FBXW4 A>T	10	103454138	103454138	A	T	FBXW4	c.725T>A	NM_022039.4	NP_071322.2:p.(Leu242Gln)	NC_000010.10:g.103454138A>T	VUS	1 lab	b404063a6a
20:60886322 LAMA5 G>A	20	60886322	60886322	G	A	LAMA5	c.9984C>T	NM_005560.6	NP_005551.3:p.(Cys3328=)	NC_000020.10:g.60886322G>A	(Likely) benign	1 lab	b4042c5c82
2:73678867 ALMS1 T>A	2	73678867	73678867	T	A	ALMS1	c.5213T>A	NM_001378454.1	NP_001365383.1:p.(Val1738Asp)	NC_000002.11:g.73678867T>A	(Likely) benign	1 lab	b404f373dd
5:174151757 MSX2 A>T	5	174151757	174151757	A	T	MSX2	c.95A>T	NM_002449.5	NP_002440.2:p.(Glu32Val)	NC_000005.9:g.174151757A>T	(Likely) benign	1 lab	b405947320
19:11172458 SMARCA4 A>C	19	11172458	11172458	A	C	SMARCA4	c.4912-2A>C	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11172458A>C	VUS	1 lab	b4067d3a98
5:14487659 TRIO A>AGCG	5	14487659	14487672	A	AGCG	TRIO	c.6933_6935dup	NM_007118.4	NP_009049.2:p.(Gly2312dup)	NC_000005.9:g.14487670_14487672dup	VUS	1 lab	b408c076b2
X:99945132 SYTL4 A>T	X	99945132	99945132	A	T	SYTL4	c.748T>A	NM_001370165.1	NP_001357094.1:p.(Phe250Ile)	NC_000023.10:g.99945132A>T	(Likely) benign	1 lab	b40ab46371
21:33706491 URB1 C>T	21	33706491	33706491	C	T	URB1	c.4838G>A	NM_014825.3	NP_055640.2:p.(Arg1613Gln)	NC_000021.8:g.33706491C>T	VUS	1 lab	b4109fe80f
12:116445447 MED13L AGAC>A	12	116445447	116445450	AGAC	A	MED13L	c.2013-9_2013-7del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116445448_116445450del	(Likely) benign	1 lab	b410eab52e
4:100480334 TRMT10A C>T	4	100480334	100480334	C	T	TRMT10A	c.162G>A	NM_001134665.3	NP_001128137.1:p.(Trp54Ter)	NC_000004.11:g.100480334C>T	(Likely) pathogenic	1 lab	b412c477bb
16:2156568 PKD1 G>A	16	2156568	2156568	G	A	PKD1	c.7320C>T	NM_001009944.3	NP_001009944.3:p.(Asp2440=)	NC_000016.9:g.2156568G>A	(Likely) benign	1 lab	b4131b4dcf
6:30691225 TUBB G>A	6	30691225	30691225	G	A	TUBB	c.386G>A	NM_178014.4	NP_821133.1:p.(Cys129Tyr)	NC_000006.11:g.30691225G>A	VUS	1 lab	b414248187
4:1804621 FGFR3 C>T	4	1804621	1804621	C	T	FGFR3	c.931-798C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804621C>T	(Likely) benign	1 lab	b41561f16f
10:123263346 FGFR2 T>C	10	123263346	123263346	T	C	FGFR2	c.1397A>G	NM_000141.5	NP_000132.3:p.(Tyr466Cys)	NC_000010.10:g.123263346T>C	VUS	1 lab	b4177b8677
7:21778438 DNAH11 G>A	7	21778438	21778438	G	A	DNAH11	c.7765G>A	NM_001277115.2	NP_001264044.1:p.(Val2589Ile)	NC_000007.13:g.21778438G>A	(Likely) benign	1 lab	b4180bc000
4:54343095 LNX1 C>T	4	54343095	54343095	C	T	LNX1	c.1717G>A	NM_001126328.3	NP_001119800.1:p.(Glu573Lys)	NC_000004.11:g.54343095C>T	VUS	1 lab	b419fac7d1
X:70356863 MED12 C>T	X	70356863	70356863	C	T	MED12	c.5535C>T	NM_005120.3	NP_005111.2:p.(Asn1845=)	NC_000023.10:g.70356863C>T	(Likely) benign	1 lab	b41a7dd6e4
X:140995763 MAGEC1 T>C	X	140995763	140995763	T	C	MAGEC1	c.2573T>C	NM_005462.5	NP_005453.2:p.(Phe858Ser)	NC_000023.10:g.140995763T>C	(Likely) benign	1 lab	b41b776a62
12:65612407 LEMD3 A>G	12	65612407	65612407	A	G	LEMD3	c.1695+8A>G	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65612407A>G	(Likely) benign	1 lab	b41c97b870
5:176637062 NSD1 A>G	5	176637062	176637062	A	G	NSD1	c.1662A>G	NM_022455.5	NP_071900.2:p.(Ile554Met)	NC_000005.9:g.176637062A>G	(Likely) benign	1 lab	b41ce235e1
5:42718205 GHR C>T	5	42718205	42718205	C	T	GHR	c.927C>T	NM_000163.5	NP_000154.1:p.(Ile309=)	NC_000005.9:g.42718205C>T	(Likely) benign	1 lab	b41d8a92a1
1:17266482 CROCC G>A	1	17266482	17266482	G	A	CROCC	c.1702G>A	NM_014675.5	NP_055490.4:p.(Glu568Lys)	NC_000001.10:g.17266482G>A	VUS	1 lab	b41f085671
2:238287452 COL6A3 C>T	2	238287452	238287452	C	T	COL6A3	c.2324G>A	NM_004369.4	NP_004360.2:p.(Cys775Tyr)	NC_000002.11:g.238287452C>T	VUS	1 lab	b43195ad1a
3:180349281 CCDC39 TTTCTCCTC>T	3	180349281	180349296	TTTCTCCTC	T	CCDC39	c.1966_1973del	NM_181426.2	NP_852091.1:p.(Glu656AsnfsTer21)	NC_000003.11:g.180349289_180349296del	(Likely) pathogenic	1 lab	b42014cb66
2:191844520 STAT1 G>C	2	191844520	191844520	G	C	STAT1	c.1705C>G	NM_007315.4	NP_009330.1:p.(Leu569Val)	NC_000002.11:g.191844520G>C	VUS	1 lab	b42117a5e0
5:41850128 OXCT1 T>C	5	41850128	41850128	T	C	OXCT1	c.564+4A>G	NM_000436.4	NP_000427.1:p.?	NC_000005.9:g.41850128T>C	(Likely) benign	1 lab	b4223a473e
1:152082500 TCHH C>T	1	152082500	152082500	C	T	TCHH	c.3193G>A	NM_007113.4	NP_009044.2:p.(Gly1065Arg)	NC_000001.10:g.152082500C>T	(Likely) benign	1 lab	b42296aadf
20:47632957 ARFGEF2 T>G	20	47632957	47632957	T	G	ARFGEF2	c.4315+5T>G	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47632957T>G	(Likely) benign	1 lab	b4233da622
2:71797720 DYSF C>T	2	71797720	71797720	C	T	DYSF	c.3086-9C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71797720C>T	(Likely) benign	1 lab	b424a2ccb3
8:17814921 PCM1 CCTT>C	8	17814921	17814927	CCTT	C	PCM1	c.1799_1801del	NM_006197.4	NP_006188.4:p.(Ser600del)	NC_000008.10:g.17814925_17814927del	VUS	1 lab	b427e01799
6:157099332 ARID1B CCCACCA>C	6	157099332	157099350	CCCACCA	C	ARID1B	c.531_536del	NM_001374828.1	NP_001361757.1:p.(His178_His179del)	NC_000006.11:g.157099345_157099350del	(Likely) benign	1 lab	b42c343c47
1:243437924 SDCCAG8 T>G	1	243437924	243437924	T	G	SDCCAG8	c.386T>G	NM_006642.5	NP_006633.1:p.(Ile129Ser)	NC_000001.10:g.243437924T>G	VUS	1 lab	b42d83a39b
2:179458592 TTN G>A	2	179458592	179458592	G	A	TTN	c.58435C>T	NM_001267550.2	NP_001254479.2:p.(Arg19479Cys)	NC_000002.11:g.179458592G>A	VUS	1 lab	b42d96c02b
17:33433491 RAD51D G>C	17	33433491	33433491	G	C	RAD51D	c.490C>G	NM_002878.4	NP_002869.3:p.(Leu164Val)	NC_000017.10:g.33433491G>C	VUS	1 lab	b42dd94e33
14:20852309 TEP1 G>A	14	20852309	20852309	G	A	TEP1	c.3422C>T	NM_007110.5	NP_009041.2:p.(Pro1141Leu)	NC_000014.8:g.20852309G>A	(Likely) benign	1 lab	b42f7b85ab
1:181767498 CACNA1E G>A	1	181767498	181767498	G	A	CACNA1E	c.6341G>A	NM_000721.4	NP_000712.2:p.(Arg2114Gln)	NC_000001.10:g.181767498G>A	VUS	1 lab	da681b134e
17:15967422 NCOR1 T>TTCCCGCTCCCGCTCCTTC	17	15967422	15967451	T	TTCCCGCTCCCGCTCCTTC	NCOR1	c.5163_5180dup	NM_006311.4	NP_006302.2:p.(Lys1722_Glu1727dup)	NC_000017.10:g.15967434_15967451dup	VUS	1 lab	b430a12ca0
9:135946952 CEL G>A	9	135946952	135946952	G	A	CEL	c.2063G>A	NM_001807.6	NP_001798.3:p.(Gly688Asp)	NC_000009.11:g.135946952G>A	(Likely) benign	1 lab	b43409952e
2:230683159 TRIP12 A>G	2	230683159	230683159	A	G	TRIP12	c.1520T>C	NM_001348323.3	NP_001335252.1:p.(Ile507Thr)	NC_000002.11:g.230683159A>G	(Likely) benign	1 lab	b437313a8d
X:84560827 POF1B C>T	X	84560827	84560827	C	T	POF1B	c.1407G>A	NM_024921.4	NP_079197.3:p.(Met469Ile)	NC_000023.10:g.84560827C>T	(Likely) benign	1 lab	b438925c21
3:65415516 MAGI1 C>T	3	65415516	65415516	C	T	MAGI1	c.1846G>A	NM_001033057.2	NP_001028229.1:p.(Val616Met)	NC_000003.11:g.65415516C>T	VUS	1 lab	b439379eb3
16:2815346 SRRM2 A>G	16	2815346	2815346	A	G	SRRM2	c.4817A>G	NM_016333.4	NP_057417.3:p.(Asp1606Gly)	NC_000016.9:g.2815346A>G	(Likely) benign	1 lab	b43bfee53f
20:44637694 MMP9 G>T	20	44637694	44637694	G	T	MMP9	c.129G>T	NM_004994.3	NP_004985.2:p.(Gln43His)	NC_000020.10:g.44637694G>T	(Likely) benign	1 lab	b43c7492f0
15:60806883 RORA C>T	15	60806883	60806883	C	T	RORA	c.356G>A	NM_134261.3	NP_599023.1:p.(Arg119Gln)	NC_000015.9:g.60806883C>T	VUS	1 lab	b43d6ba887
11:72028227 CLPB C>T	11	72028227	72028227	C	T	CLPB	c.911G>A	NM_001258392.3	NP_001245321.1:p.(Arg304Gln)	NC_000011.9:g.72028227C>T	VUS	1 lab	b43d95b335
14:23887611 MYH7 T>C	14	23887611	23887611	T	C	MYH7	c.3977A>G	NM_000257.4	NP_000248.2:p.(Lys1326Arg)	NC_000014.8:g.23887611T>C	VUS	1 lab	b43db41208
14:50713954 L2HGDH C>T	14	50713954	50713954	C	T	L2HGDH	c.1214G>A	NM_024884.3	NP_079160.1:p.(Arg405Lys)	NC_000014.8:g.50713954C>T	VUS	1 lab	b43dfc2839
4:159620202 ETFDH C>T	4	159620202	159620202	C	T	ETFDH	c.1036C>T	NM_004453.4	NP_004444.2:p.(His346Tyr)	NC_000004.11:g.159620202C>T	VUS	1 lab	b43f0dc449
19:13616912 CACNA1A C>T	19	13616912	13616912	C	T	CACNA1A	c.127G>A	NM_001127222.2	NP_001120694.1:p.(Gly43Arg)	NC_000019.9:g.13616912C>T	(Likely) benign	1 lab	b43f8c7daa
6:129777553 LAMA2 C>T	6	129777553	129777553	C	T	LAMA2	c.6781C>T	NM_000426.4	NP_000417.3:p.(His2261Tyr)	NC_000006.11:g.129777553C>T	VUS	1 lab	b441dce841
1:204128567 REN C>T	1	204128567	204128567	C	T	REN	c.649G>A	NM_000537.4	NP_000528.1:p.(Gly217Arg)	NC_000001.10:g.204128567C>T	(Likely) benign	1 lab	b442dfba96
11:47498926 CELF1 C>T	11	47498926	47498926	C	T	CELF1	c.896G>A	NM_001376376.1	NP_001363305.1:p.(Ser299Asn)	NC_000011.9:g.47498926C>T	(Likely) benign	1 lab	b444761c31
17:26964940 BLTP2 G>C	17	26964940	26964940	G	C	BLTP2	c.1685C>G	NM_014680.5	NP_055495.2:p.(Ser562Cys)	NC_000017.10:g.26964940G>C	VUS	1 lab	b446d868b8
22:37466973 TMPRSS6 G>T	22	37466973	37466973	G	T	TMPRSS6	c.1655C>A	NM_001374504.1	NP_001361433.1:p.(Ser552Ter)	NC_000022.10:g.37466973G>T	VUS	1 lab	b447c5c7f5
11:64402772 NRXN2 C>T	11	64402772	64402772	C	T	NRXN2	c.3556G>A	NM_015080.4	NP_055895.1:p.(Gly1186Ser)	NC_000011.9:g.64402772C>T	(Likely) benign	1 lab	b449b9e102
X:2933233 ARSH G>A	X	2933233	2933233	G	A	ARSH	c.563G>A	NM_001011719.2	NP_001011719.1:p.(Arg188His)	NC_000023.10:g.2933233G>A	(Likely) benign	1 lab	b44cc51242
2:97851254 ANKRD36 T>G	2	97851254	97851254	T	G	ANKRD36	c.2041+7T>G	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97851254T>G	(Likely) benign	1 lab	b44db00e9e
17:882696 NXN C>CA	17	882696	882697	C	CA	NXN	c.222_223insT	NM_022463.5	NP_071908.2:p.(Gly75TrpfsTer83)	NC_000017.10:g.882696_882697insA	VUS	1 lab	b44ec3beff
1:7725032 CAMTA1 G>A	1	7725032	7725032	G	A	CAMTA1	c.2425G>A	NM_015215.4	NP_056030.1:p.(Gly809Arg)	NC_000001.10:g.7725032G>A	(Likely) benign	1 lab	b44f0ad101
15:89876954 POLGARF C>T	15	89876954	89876954	C	T	POLGARF	c.87G>A	NM_001430120.1	NP_001417049.1:p.(Arg29=)	NC_000015.9:g.89876954C>T	VUS	1 lab	b45051f6aa
17:56386428 TSPOAP1 C>A	17	56386428	56386428	C	A	TSPOAP1	c.4205G>T	NM_004758.4	NP_004749.2:p.(Gly1402Val)	NC_000017.10:g.56386428C>A	(Likely) benign	1 lab	b4529402ca
19:36595789 WDR62 CCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGG>C	19	36595789	36595856	CCCAGCCCAGGCTCTGCCCAGCCCAGGACCCCCGTCCCCACCGACGCTGTACCCCCTGG	C	WDR62	c.4441_4498del	NM_001083961.2	NP_001077430.1:p.(Ala1481ThrfsTer37)	NC_000019.9:g.36595799_36595856del	(Likely) pathogenic	1 lab	291367f072
11:57077981 TNKS1BP1 G>A	11	57077981	57077981	G	A	TNKS1BP1	c.2204C>T	NM_033396.3	NP_203754.2:p.(Thr735Ile)	NC_000011.9:g.57077981G>A	VUS	1 lab	b455cf6d1a
7:299872 FAM20C G>A	7	299872	299872	G	A	FAM20C	c.1681G>A	NM_020223.4	NP_064608.2:p.(Val561Met)	NC_000007.13:g.299872G>A	(Likely) benign	1 lab	b456c5e32a
5:176638378 NSD1 C>T	5	176638378	176638378	C	T	NSD1	c.2978C>T	NM_022455.5	NP_071900.2:p.(Ala993Val)	NC_000005.9:g.176638378C>T	VUS	1 lab	b458e9a7fd
22:41513277 EP300 A>G	22	41513277	41513277	A	G	EP300	c.181A>G	NM_001429.4	NP_001420.2:p.(Ile61Val)	NC_000022.10:g.41513277A>G	VUS	1 lab	b45aa9b2ab
20:60909006 LAMA5 G>A	20	60909006	60909006	G	A	LAMA5	c.2829C>T	NM_005560.6	NP_005551.3:p.(Ser943=)	NC_000020.10:g.60909006G>A	VUS	1 lab	b45addc2ec
19:36247881 HSPB6 G>A	19	36247881	36247881	G	A	HSPB6	c.29C>T	NM_144617.3	NP_653218.1:p.(Ser10Phe)	NC_000019.9:g.36247881G>A	VUS	1 lab	b45baa5e6b
22:40061944 CACNA1I G>A	22	40061944	40061944	G	A	CACNA1I	c.4037G>A	NM_021096.4	NP_066919.2:p.(Arg1346His)	NC_000022.10:g.40061944G>A	VUS	1 lab	b45c1ac33d
12:69080859 NUP107 T>C	12	69080859	69080859	T	C	NUP107	c.8+6T>C	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69080859T>C	VUS	1 lab	b45ec0da04
2:233272012 ALPG G>A	2	233272012	233272012	G	A	ALPG	c.201G>A	NM_031313.3	NP_112603.2:p.(Thr67=)	NC_000002.11:g.233272012G>A	(Likely) benign	1 lab	b45ed121f3
20:43047092 HNF4A G>A	20	43047092	43047092	G	A	HNF4A	c.676G>A	NM_000457.5	NP_000448.3:p.(Glu226Lys)	NC_000020.10:g.43047092G>A	VUS	1 lab	b45efe8f7e
18:19751918 GATA6 G>A	18	19751918	19751918	G	A	GATA6	c.813G>A	NM_005257.6	NP_005248.2:p.(Met271Ile)	NC_000018.9:g.19751918G>A	VUS	1 lab	b45fbacd47
18:2608772 NDC80 G>C	18	2608772	2608772	G	C	NDC80	c.1631G>C	NM_006101.3	NP_006092.1:p.(Ser544Thr)	NC_000018.9:g.2608772G>C	VUS	1 lab	b4603dd3ae
2:219529924 RNF25 T>G	2	219529924	219529924	T	G	RNF25	c.620A>C	NM_022453.3	NP_071898.2:p.(Tyr207Ser)	NC_000002.11:g.219529924T>G	(Likely) benign	1 lab	b460dd1422
2:71192113 ATP6V1B1 CG>C	2	71192113	71192114	CG	C	ATP6V1B1	c.1405del	NM_001692.4	NP_001683.2:p.(Glu469SerfsTer18)	NC_000002.11:g.71192114del	(Likely) pathogenic	1 lab	2ae64df220
16:89246663 CDH15 GC>G	16	89246663	89246664	GC	G	CDH15	c.258del	NM_004933.3	NP_004924.1:p.(Val87TrpfsTer34)	NC_000016.9:g.89246664del	VUS	1 lab	b461e55bc3
16:31273129 ITGAM T>C	16	31273129	31273129	T	C	ITGAM	c.134+11T>C	NM_001145808.2	NP_001139280.1:p.?	NC_000016.9:g.31273129T>C	(Likely) benign	1 lab	29175c6c06
X:106465969 DNAAF6 T>C	X	106465969	106465969	T	C	DNAAF6	c.333-6T>C	NM_173494.2	NP_775765.1:p.?	NC_000023.10:g.106465969T>C	(Likely) benign	1 lab	b46378e9d2
9:35808863 NPR2 C>T	9	35808863	35808863	C	T	NPR2	c.2986+13C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35808863C>T	(Likely) benign	1 lab	b4638e5bc5
19:42863044 MEGF8 C>G	19	42863044	42863044	C	G	MEGF8	c.5281C>G	NM_001271938.2	NP_001258867.1:p.(Leu1761Val)	NC_000019.9:g.42863044C>G	VUS	1 lab	b46397667c
20:42143694 L3MBTL1 C>T	20	42143694	42143694	C	T	L3MBTL1	c.548C>T	NM_001377303.1	NP_001364232.1:p.(Pro183Leu)	NC_000020.10:g.42143694C>T	(Likely) benign	1 lab	b46466b7a5
2:27458470 CAD C>T	2	27458470	27458470	C	T	CAD	c.4036C>T	NM_004341.5	NP_004332.2:p.(Leu1346Phe)	NC_000002.11:g.27458470C>T	VUS	1 lab	b464a72b4f
17:36894691 PCGF2 C>T	17	36894691	36894691	C	T	PCGF2	c.491G>A	NM_007144.3	NP_009075.1:p.(Arg164His)	NC_000017.10:g.36894691C>T	(Likely) benign	1 lab	b4758da5c2
X:135956611 RBMX C>CCGTAACTCTCATATGAAT	X	135956611	135956613	C	CCGTAACTCTCATATGAAT	RBMX	c.866-1_866insATTCATATGAGAGTTACG	NM_002139.4	NP_002130.2:p.?	NC_000023.10:g.135956612_135956613insGTAACTCTCATATGAATC	VUS	1 lab	b4651c8186
12:102164347 GNPTAB T>A	12	102164347	102164347	T	A	GNPTAB	c.950A>T	NM_024312.5	NP_077288.2:p.(Asp317Val)	NC_000012.11:g.102164347T>A	VUS	1 lab	b4655ed205
17:48650075 CACNA1G G>A	17	48650075	48650075	G	A	CACNA1G	c.907G>A	NM_018896.5	NP_061496.2:p.(Glu303Lys)	NC_000017.10:g.48650075G>A	VUS	1 lab	b4658e8212
17:1733428 RPA1 G>A	17	1733428	1733428	G	A	RPA1	c.33+8G>A	NM_002945.5	NP_002936.1:p.?	NC_000017.10:g.1733428G>A	VUS	1 lab	b466c0beae
18:50734103 DCC G>A	18	50734103	50734103	G	A	DCC	c.1777G>A	NM_005215.4	NP_005206.2:p.(Glu593Lys)	NC_000018.9:g.50734103G>A	VUS	1 lab	b46b1da003
15:63908695 HERC1 G>A	15	63908695	63908695	G	A	HERC1	c.13875C>T	NM_003922.4	NP_003913.3:p.(Tyr4625=)	NC_000015.9:g.63908695G>A	(Likely) benign	1 lab	b46d62b82e
11:101359766 TRPC6 G>A	11	101359766	101359766	G	A	TRPC6	c.1195C>T	NM_004621.6	NP_004612.2:p.(Arg399Ter)	NC_000011.9:g.101359766G>A	VUS	1 lab	b46e545e80
1:223176078 DISP1 C>T	1	223176078	223176078	C	T	DISP1	c.1339C>T	NM_001377229.1	NP_001364158.1:p.(Pro447Ser)	NC_000001.10:g.223176078C>T	(Likely) benign	1 lab	b46ed32d1f
2:132238115 TUBA3D C>T	2	132238115	132238115	C	T	TUBA3D	c.849C>T	NM_080386.4	NP_525125.2:p.(His283=)	NC_000002.11:g.132238115C>T	(Likely) benign	1 lab	b46ed73a5a
X:119602976 LAMP2 C>T	X	119602976	119602976	C	T	LAMP2	c.49G>A	NM_002294.2	NP_002285.1:p.(Val17Ile)	NC_000023.10:g.119602976C>T	(Likely) benign	1 lab	2ae8ccc50d
12:56487973 ERBB3 G>A	12	56487973	56487973	G	A	ERBB3	c.1704G>A	NM_001982.4	NP_001973.2:p.(Ser568=)	NC_000012.11:g.56487973G>A	VUS	1 lab	b49ef90215
19:55087302 LILRA2 G>A	19	55087302	55087302	G	A	LILRA2	c.981G>A	NM_001130917.3	NP_001124389.2:p.(Ser327=)	NC_000019.9:g.55087302G>A	(Likely) benign	1 lab	b470927b26
3:70008574 MITF A>G	3	70008574	70008574	A	G	MITF	c.1179+3A>G	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.70008574A>G	(Likely) benign	1 lab	b47316b0b4
16:1259137 CACNA1H C>T	16	1259137	1259137	C	T	CACNA1H	c.3469C>T	NM_021098.3	NP_066921.2:p.(Arg1157Cys)	NC_000016.9:g.1259137C>T	VUS	1 lab	b47389ac15
16:16308263 ABCC6 C>T	16	16308263	16308263	C	T	ABCC6	c.518G>A	NM_001171.6	NP_001162.5:p.(Cys173Tyr)	NC_000016.9:g.16308263C>T	(Likely) benign	1 lab	b473990c50
1:100381989 AGL A>C	1	100381989	100381989	A	C	AGL	c.4283A>C	NM_000642.3	NP_000633.2:p.(Tyr1428Ser)	NC_000001.10:g.100381989A>C	VUS	1 lab	b473ab640c
18:74580713 ZNF236 C>T	18	74580713	74580713	C	T	ZNF236	c.436C>T	NM_001306089.2	NP_001293018.1:p.(Arg146Cys)	NC_000018.9:g.74580713C>T	VUS	1 lab	b476e94934
17:11725278 DNAH9 A>G	17	11725278	11725278	A	G	DNAH9	c.8749A>G	NM_001372.4	NP_001363.2:p.(Ile2917Val)	NC_000017.10:g.11725278A>G	(Likely) benign	1 lab	b47779a654
11:57564328 CTNND1 C>T	11	57564328	57564328	C	T	CTNND1	c.820C>T	NM_001085458.2	NP_001078927.1:p.(Arg274Cys)	NC_000011.9:g.57564328C>T	VUS	1 lab	b4779c77f5
2:179391962 TTN C>T	2	179391962	179391962	C	T	TTN	c.107753G>A	NM_001267550.2	NP_001254479.2:p.(Cys35918Tyr)	NC_000002.11:g.179391962C>T	VUS	1 lab	b478500387
7:140221664 DENND2A C>T	7	140221664	140221664	C	T	DENND2A	c.2902G>A	NM_015689.5	NP_056504.3:p.(Asp968Asn)	NC_000007.13:g.140221664C>T	VUS	1 lab	b4790ecb8a
12:121164903 ACADS TTGCTCCAGACA>T	12	121164903	121164917	TTGCTCCAGACA	T	ACADS	c.125_135del	NM_000017.4	NP_000008.1:p.(Leu42ProfsTer17)	NC_000012.11:g.121164907_121164917del	(Likely) pathogenic	1 lab	b47b8d83ec
12:112690348 HECTD4 A>AG	12	112690348	112690355	A	AG	HECTD4	c.3448-17dup	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112690355dup	(Likely) benign	1 lab	b47b9b99a7
X:107431740 COL4A6 G>A	X	107431740	107431740	G	A	COL4A6	c.1590+7C>T	NM_001847.4	NP_001838.2:p.?	NC_000023.10:g.107431740G>A	(Likely) benign	1 lab	29187b9eb2
6:24784739 GMNN C>A	6	24784739	24784739	C	A	GMNN	c.425C>A	NM_015895.5	NP_056979.1:p.(Ala142Glu)	NC_000006.11:g.24784739C>A	(Likely) benign	1 lab	b47dc0a5a3
2:211085452 ACADL C>A	2	211085452	211085452	C	A	ACADL	c.152G>T	NM_001608.4	NP_001599.1:p.(Arg51Ile)	NC_000002.11:g.211085452C>A	VUS	1 lab	b47fe53980
7:21737768 DNAH11 G>A	7	21737768	21737768	G	A	DNAH11	c.6117G>A	NM_001277115.2	NP_001264044.1:p.(Ala2039=)	NC_000007.13:g.21737768G>A	(Likely) benign	1 lab	b480245beb
2:145147090 ZEB2 G>T	2	145147090	145147090	G	T	ZEB2	c.3573C>A	NM_014795.4	NP_055610.1:p.(Asp1191Glu)	NC_000002.11:g.145147090G>T	VUS	1 lab	b480e674ee
4:6303656 WFS1 A>G	4	6303656	6303656	A	G	WFS1	c.2134A>G	NM_006005.3	NP_005996.2:p.(Ile712Val)	NC_000004.11:g.6303656A>G	VUS	1 lab	b4836827dc
2:220078866 ABCB6 G>C	2	220078866	220078866	G	C	ABCB6	c.1429C>G	NM_005689.4	NP_005680.1:p.(Arg477Gly)	NC_000002.11:g.220078866G>C	VUS	1 lab	b484088d18
4:1389117 UVSSA C>CAT	4	1389117	1389118	C	CAT	UVSSA				NC_000004.11:g.1389117_1389118insAT	VUS	1 lab	b4843dabf2
9:97864023 FANCC C>T	9	97864023	97864023	C	T	FANCC	c.1643G>A	NM_000136.3	NP_000127.2:p.(Arg548Gln)	NC_000009.11:g.97864023C>T	(Likely) benign	1 lab	b484dae9dd
22:42607708 TCF20 C>T	22	42607708	42607708	C	T	TCF20	c.3604G>A	NM_001378418.1	NP_001365347.1:p.(Gly1202Ser)	NC_000022.10:g.42607708C>T	(Likely) benign	1 lab	b4860511b0
1:224371105 DEGS1 C>T	1	224371105	224371105	C	T	DEGS1	c.67C>T	NM_003676.4	NP_003667.1:p.(Arg23Cys)	NC_000001.10:g.224371105C>T	VUS	1 lab	b486c103aa
14:81534617 TSHR A>C	14	81534617	81534617	A	C	TSHR	c.262A>C	NM_000369.5	NP_000360.2:p.(Thr88Pro)	NC_000014.8:g.81534617A>C	(Likely) benign	1 lab	b487d30727
12:2797853 CACNA1C C>T	12	2797853	2797853	C	T	CACNA1C	c.6025C>T	NM_000719.7	NP_000710.5:p.(Arg2009Trp)	NC_000012.11:g.2797853C>T	VUS	1 lab	b48c58eb27
17:59480504 TBX2 C>T	17	59480504	59480504	C	T	TBX2	c.746C>T	NM_005994.4	NP_005985.3:p.(Thr249Ile)	NC_000017.10:g.59480504C>T	VUS	1 lab	b48d732bc6
10:1054946 GTPBP4 A>G	10	1054946	1054946	A	G	GTPBP4	c.1162A>G	NM_012341.3	NP_036473.2:p.(Met388Val)	NC_000010.10:g.1054946A>G	(Likely) benign	1 lab	b48e7c1f4e
X:133988144 PABIR3 GA>G	X	133988144	133988147	GA	G	PABIR3	c.713del	NM_001388447.1	NP_001375376.1:p.(Asn238ThrfsTer40)	NC_000023.10:g.133988147del	(Likely) benign	1 lab	b490afa39b
16:89871744 FANCA C>T	16	89871744	89871744	C	T	FANCA	c.653G>A	NM_000135.4	NP_000126.2:p.(Cys218Tyr)	NC_000016.9:g.89871744C>T	VUS	1 lab	b494ba6932
17:56429483 SUPT4H1 G>T	17	56429483	56429483	G	T	SUPT4H1	c.14C>A	NM_003168.3	NP_003159.1:p.(Thr5Lys)	NC_000017.10:g.56429483G>T	VUS	1 lab	b494db8a01
1:225609909 LBR C>T	1	225609909	225609909	C	T	LBR	c.236G>A	NM_002296.4	NP_002287.2:p.(Arg79Gln)	NC_000001.10:g.225609909C>T	VUS	1 lab	b495ff1816
1:8829992 RERE C>T	1	8829992	8829992	C	T	RERE	c.-145+47227G>A	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8829992C>T	(Likely) benign	1 lab	b496ae20f2
14:39510025 SEC23A G>T	14	39510025	39510025	G	T	SEC23A	c.2053C>A	NM_006364.4	NP_006355.2:p.(Leu685Met)	NC_000014.8:g.39510025G>T	VUS	1 lab	b496df07a7
1:33237607 NHSL3 G>A	1	33237607	33237607	G	A	NHSL3	c.2827G>A	NM_020888.3	NP_065939.2:p.(Ala943Thr)	NC_000001.10:g.33237607G>A	VUS	1 lab	b497799247
2:179396406 TTN C>G	2	179396406	179396406	C	G	TTN	c.104936G>C	NM_001267550.2	NP_001254479.2:p.(Gly34979Ala)	NC_000002.11:g.179396406C>G	VUS	1 lab	29194f4fb9
19:55087405 LILRA2 C>T	19	55087405	55087405	C	T	LILRA2	c.1084C>T	NM_001130917.3	NP_001124389.2:p.(His362Tyr)	NC_000019.9:g.55087405C>T	(Likely) benign	1 lab	b497830fef
17:260248 LIAT1 C>T	17	260248	260248	C	T	LIAT1	c.115C>T	NM_001013672.5	NP_001013694.4:p.(Arg39Cys)	NC_000017.10:g.260248C>T	VUS	1 lab	b497cf6c13
7:720282 PRKAR1B G>C	7	720282	720282	G	C	PRKAR1B	c.259C>G	NM_001164760.2	NP_001158232.1:p.(Pro87Ala)	NC_000007.13:g.720282G>C	(Likely) benign	1 lab	b497fe7c0b
X:134714015 INTS6L C>T	X	134714015	134714015	C	T	INTS6L	c.2422C>T	NM_001351601.3	NP_001338530.1:p.(Pro808Ser)	NC_000023.10:g.134714015C>T	VUS	1 lab	b4991a49af
2:179409111 TTN G>C	2	179409111	179409111	G	C	TTN	c.95845C>G	NM_001267550.2	NP_001254479.2:p.(Gln31949Glu)	NC_000002.11:g.179409111G>C	VUS	1 lab	b49971e51e
21:47551934 COL6A2 G>A	21	47551934	47551934	G	A	COL6A2	c.2528G>A	NM_001849.4	NP_001840.3:p.(Arg843Gln)	NC_000021.8:g.47551934G>A	VUS	1 lab	b49aee7e93
9:139409941 NOTCH1 T>A	9	139409941	139409941	T	A	NOTCH1	c.1897A>T	NM_017617.5	NP_060087.3:p.(Thr633Ser)	NC_000009.11:g.139409941T>A	VUS	1 lab	b49b9a9ea7
19:42776236 CIC C>T	19	42776236	42776236	C	T	CIC	c.301C>T	NM_001386298.1	NP_001373227.1:p.(Arg101Cys)	NC_000019.9:g.42776236C>T	VUS	1 lab	b49c14f8a3
7:150737669 ABCB8 G>A	7	150737669	150737669	G	A	ABCB8	c.1336G>A	NM_007188.5	NP_009119.2:p.(Val446Ile)	NC_000007.13:g.150737669G>A	(Likely) benign	1 lab	b49ce74738
2:219128049 GPBAR1 G>A	2	219128049	219128049	G	A	GPBAR1	c.602G>A	NM_170699.3	NP_733800.1:p.(Arg201Gln)	NC_000002.11:g.219128049G>A	VUS	1 lab	b49cfcb076
19:7117196 INSR C>T	19	7117196	7117196	C	T	INSR	c.4020G>A	NM_000208.4	NP_000199.2:p.(Ala1340=)	NC_000019.9:g.7117196C>T	(Likely) benign	1 lab	b49f493855
17:74134134 FOXJ1 G>C	17	74134134	74134134	G	C	FOXJ1	c.566C>G	NM_001454.4	NP_001445.2:p.(Pro189Arg)	NC_000017.10:g.74134134G>C	VUS	1 lab	b4a04e8243
2:179621467 TTN T>C	2	179621467	179621467	T	C	TTN	c.10736A>G	NM_001267550.2	NP_001254479.2:p.(Gln3579Arg)	NC_000002.11:g.179621467T>C	VUS	1 lab	b4a0c0e226
17:29587482 NF1 G>A	17	29587482	29587482	G	A	NF1	c.4526G>A	NM_001042492.3	NP_001035957.1:p.(Arg1509His)	NC_000017.10:g.29587482G>A	(Likely) benign	1 lab	b4a115ab33
3:123512665 MYLK G>C	3	123512665	123512665	G	C	MYLK	c.24C>G	NM_053025.3	NP_444253.3:p.(Ala8=)	NC_000003.11:g.123512665G>C	(Likely) benign	1 lab	2aec45f0ea
4:6086693 JAKMIP1 C>CAA	4	6086693	6086694	C	CAA	JAKMIP1	c.835-2_835-1insTT	NM_001099433.2	NP_001092903.1:p.?	NC_000004.11:g.6086693_6086694insAA	(Likely) benign	1 lab	b4a3c5e3dc
3:114058000 ZBTB20 G>A	3	114058000	114058000	G	A	ZBTB20	c.2078C>T	NM_001348800.3	NP_001335729.1:p.(Ala693Val)	NC_000003.11:g.114058000G>A	(Likely) benign	1 lab	b4a3c9233b
7:56088786 PSPH A>T	7	56088786	56088786	A	T	PSPH	c.120T>A	NM_004577.4	NP_004568.2:p.(Val40=)	NC_000007.13:g.56088786A>T	(Likely) benign	1 lab	b4a4bcd2df
15:25223336 SNRPN G>A	15	25223336	25223336	G	A	SNRPN	c.560-4G>A	NM_003097.6	NP_003088.1:p.?	NC_000015.9:g.25223336G>A	(Likely) benign	1 lab	b4a54b3d1f
1:10720165 CASZ1 A>G	1	10720165	10720165	A	G	CASZ1	c.934T>C	NM_001079843.3	NP_001073312.1:p.(Tyr312His)	NC_000001.10:g.10720165A>G	VUS	1 lab	b4a6f9c3c3
3:129197049 IFT122 C>T	3	129197049	129197049	C	T	IFT122	c.1338C>T	NM_052989.3	NP_443715.1:p.(Ile446=)	NC_000003.11:g.129197049C>T	VUS	1 lab	b4a73f35e9
8:100533122 VPS13B T>C	8	100533122	100533122	T	C	VPS13B	c.4634-5T>C	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100533122T>C	VUS	1 lab	b4a77242c7
8:41556973 ANK1 T>C	8	41556973	41556973	T	C	ANK1	c.2555A>G	NM_000037.4	NP_000028.3:p.(Gln852Arg)	NC_000008.10:g.41556973T>C	VUS	1 lab	b4a9bf2dc0
1:43223556 P3H1 G>A	1	43223556	43223556	G	A	P3H1	c.978C>T	NM_022356.4	NP_071751.3:p.(Thr326=)	NC_000001.10:g.43223556G>A	(Likely) benign	1 lab	b4aa075b0a
1:237801787 RYR2 G>A	1	237801787	237801787	G	A	RYR2	c.6923G>A	NM_001035.3	NP_001026.2:p.(Cys2308Tyr)	NC_000001.10:g.237801787G>A	VUS	1 lab	b4ab1119fa
21:47856959 PCNT C>G	21	47856959	47856959	C	G	PCNT	c.9064C>G	NM_006031.6	NP_006022.3:p.(Leu3022Val)	NC_000021.8:g.47856959C>G	VUS	1 lab	b4ad628942
19:38997165 RYR1 A>C	19	38997165	38997165	A	C	RYR1	c.8671A>C	NM_000540.3	NP_000531.2:p.(Lys2891Gln)	NC_000019.9:g.38997165A>C	VUS	1 lab	b4ae58f7a5
1:8390953 SLC45A1 G>A	1	8390953	8390953	G	A	SLC45A1	c.1400G>A	NM_001080397.3	NP_001073866.3:p.(Gly467Asp)	NC_000001.10:g.8390953G>A	VUS	1 lab	29214f92eb
8:77766705 ZFHX4 C>G	8	77766705	77766705	C	G	ZFHX4	c.7548C>G	NM_024721.5	NP_078997.4:p.(Phe2516Leu)	NC_000008.10:g.77766705C>G	VUS	1 lab	b4afd6501c
10:43609100 RET T>G	10	43609100	43609100	T	G	RET	c.1856T>G	NM_020975.6	NP_066124.1:p.(Phe619Cys)	NC_000010.10:g.43609100T>G	VUS	1 lab	b4affa7f61
4:2691369 FAM193A G>A	4	2691369	2691369	G	A	FAM193A	c.2468G>A	NM_001366318.2	NP_001353247.1:p.(Gly823Glu)	NC_000004.11:g.2691369G>A	VUS	1 lab	b4b01a1c8d
11:117860119 IL10RA C>T	11	117860119	117860119	C	T	IL10RA	c.189-38C>T	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117860119C>T	(Likely) benign	1 lab	2af1945b7e
1:152284583 FLG G>A	1	152284583	152284583	G	A	FLG	c.2779C>T	NM_002016.2	NP_002007.1:p.(Gln927Ter)	NC_000001.10:g.152284583G>A	VUS	1 lab	b4b186c5da
X:70145724 SLC7A3 C>T	X	70145724	70145724	C	T	SLC7A3	c.1799G>A	NM_032803.6	NP_116192.4:p.(Arg600His)	NC_000023.10:g.70145724C>T	VUS	1 lab	b4b318cae3
10:73111423 SLC29A3 G>T	10	73111423	73111423	G	T	SLC29A3	c.488G>T	NM_018344.6	NP_060814.4:p.(Gly163Val)	NC_000010.10:g.73111423G>T	(Likely) benign	1 lab	b4b52997a4
12:124206931 ATP6V0A2 T>G	12	124206931	124206931	T	G	ATP6V0A2	c.230T>G	NM_012463.4	NP_036595.2:p.(Ile77Ser)	NC_000012.11:g.124206931T>G	VUS	1 lab	b4b52c5437
7:27224454 HOXA11 C>G	7	27224454	27224454	C	G	HOXA11	c.310G>C	NM_005523.6	NP_005514.1:p.(Gly104Arg)	NC_000007.13:g.27224454C>G	VUS	1 lab	b4b6298988
18:10691258 PIEZO2 C>G	18	10691258	10691258	C	G	PIEZO2	c.7314G>C	NM_001378183.1	NP_001365112.1:p.(Lys2438Asn)	NC_000018.9:g.10691258C>G	VUS	1 lab	b4b84a6fee
2:3687927 COLEC11 G>A	2	3687927	3687927	G	A	COLEC11	c.328+6G>A	NM_024027.5	NP_076932.1:p.?	NC_000002.11:g.3687927G>A	(Likely) benign	1 lab	b4b87668e3
8:144890943 SCRIB C>T	8	144890943	144890943	C	T	SCRIB	c.1951G>A	NM_182706.5	NP_874365.3:p.(Ala651Thr)	NC_000008.10:g.144890943C>T	VUS	1 lab	b4b972745a
2:179480491 TTN C>T	2	179480491	179480491	C	T	TTN	c.48337G>A	NM_001267550.2	NP_001254479.2:p.(Glu16113Lys)	NC_000002.11:g.179480491C>T	VUS	1 lab	b4bb6666cb
5:140908136 DIAPH1 T>C	5	140908136	140908136	T	C	DIAPH1	c.3032A>G	NM_005219.5	NP_005210.3:p.(Lys1011Arg)	NC_000005.9:g.140908136T>C	VUS	1 lab	b4bc8feed8
4:6303471 WFS1 A>G	4	6303471	6303471	A	G	WFS1	c.1949A>G	NM_006005.3	NP_005996.2:p.(Tyr650Cys)	NC_000004.11:g.6303471A>G	VUS	1 lab	b4bd0bd8fc
16:88799680 PIEZO1 C>T	16	88799680	88799680	C	T	PIEZO1	c.2664+6G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799680C>T	(Likely) benign	1 lab	b4bdfadf08
1:22183807 HSPG2 C>T	1	22183807	22183807	C	T	HSPG2	c.5365G>A	NM_005529.7	NP_005520.4:p.(Val1789Ile)	NC_000001.10:g.22183807C>T	VUS	1 lab	b4be0e266d
5:14293574 TRIO C>T	5	14293574	14293574	C	T	TRIO	c.1176+331C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14293574C>T	(Likely) benign	1 lab	b4bf9fb0e3
1:152277217 FLG C>T	1	152277217	152277217	C	T	FLG	c.10145G>A	NM_002016.2	NP_002007.1:p.(Arg3382His)	NC_000001.10:g.152277217C>T	(Likely) benign	1 lab	b4c04a3e8e
16:88779830 CTU2 G>A	16	88779830	88779830	G	A	CTU2	c.848G>A	NM_001012759.3	NP_001012777.1:p.(Arg283Gln)	NC_000016.9:g.88779830G>A	VUS	1 lab	b4c112bf4d
3:30733059 TGFBR2 C>T	3	30733059	30733059	C	T	TGFBR2	c.1672C>T	NM_003242.6	NP_003233.4:p.(Pro558Ser)	NC_000003.11:g.30733059C>T	VUS	1 lab	b4c2205aac
16:88871282 CDT1 C>T	16	88871282	88871282	C	T	CDT1	c.464C>T	NM_030928.4	NP_112190.2:p.(Ala155Val)	NC_000016.9:g.88871282C>T	(Likely) benign	1 lab	b4c2242e02
1:24147056 HMGCL G>A	1	24147056	24147056	G	A	HMGCL	c.88C>T	NM_000191.3	NP_000182.2:p.(Pro30Ser)	NC_000001.10:g.24147056G>A	(Likely) benign	1 lab	b4c3baa6be
1:155174674 THBS3 G>T	1	155174674	155174674	G	T	THBS3	c.618C>A	NM_007112.5	NP_009043.1:p.(Phe206Leu)	NC_000001.10:g.155174674G>T	VUS	1 lab	b4c40ea081
11:71940252 INPPL1 A>G	11	71940252	71940252	A	G	INPPL1	c.637A>G	NM_001567.4	NP_001558.3:p.(Thr213Ala)	NC_000011.9:g.71940252A>G	(Likely) benign	1 lab	b4c416680d
10:23297257 ARMC3 A>G	10	23297257	23297257	A	G	ARMC3	c.1882A>G	NM_173081.5	NP_775104.2:p.(Ile628Val)	NC_000010.10:g.23297257A>G	(Likely) benign	1 lab	b4c4819ebb
1:235612070 TBCE G>T	1	235612070	235612070	G	T	TBCE	c.1577G>T	NM_003193.5	NP_003184.1:p.(Arg526Leu)	NC_000001.10:g.235612070G>T	VUS	1 lab	b4c498fb9e
18:45371747 SMAD2 C>T	18	45371747	45371747	C	T	SMAD2	c.1244G>A	NM_005901.6	NP_005892.1:p.(Arg415Lys)	NC_000018.9:g.45371747C>T	VUS	1 lab	2923a3f1b2
6:30890535 VARS2 T>C	6	30890535	30890535	T	C	VARS2	c.2090T>C	NM_020442.6	NP_065175.4:p.(Ile697Thr)	NC_000006.11:g.30890535T>C	(Likely) benign	1 lab	b4c63a3f4b
X:115304276 AGTR2 G>A	X	115304276	115304276	G	A	AGTR2	c.743G>A	NM_000686.5	NP_000677.2:p.(Arg248Lys)	NC_000023.10:g.115304276G>A	(Likely) benign	1 lab	b4c730ae5d
1:223164883 DISP1 G>A	1	223164883	223164883	G	A	DISP1	c.685G>A	NM_001377229.1	NP_001364158.1:p.(Ala229Thr)	NC_000001.10:g.223164883G>A	VUS	1 lab	b4c758d1a3
17:57168710 TRIM37 G>T	17	57168710	57168710	G	T	TRIM37	c.124-9C>A	NM_015294.6	NP_056109.1:p.?	NC_000017.10:g.57168710G>T	(Likely) benign	1 lab	b4c80636c4
6:12912421 PHACTR1 G>A	6	12912421	12912421	G	A	PHACTR1	c.251-141176G>A	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.12912421G>A	(Likely) benign	1 lab	b4c8afce32
9:94124008 AUH A>G	9	94124008	94124008	A	G	AUH	c.164T>C	NM_001698.3	NP_001689.1:p.(Val55Ala)	NC_000009.11:g.94124008A>G	(Likely) benign	1 lab	b4ca228ba7
5:126161711 LMNB1 G>GC	5	126161711	126161717	G	GC	LMNB1	c.1529dup	NM_005573.4	NP_005564.1:p.(Thr511AsnfsTer2)	NC_000005.9:g.126161717dup	VUS	1 lab	b4ca7695f5
8:41834797 KAT6A CCTA>C	8	41834797	41834801	CCTA	C	KAT6A	c.1089_1091del	NM_006766.5	NP_006757.2:p.(Arg364del)	NC_000008.10:g.41834799_41834801del	VUS	1 lab	b4cb5adee8
1:158517706 OR6Y1 T>C	1	158517706	158517706	T	C	OR6Y1	c.190A>G	NM_001005189.2	NP_001005189.1:p.(Met64Val)	NC_000001.10:g.158517706T>C	VUS	1 lab	b4cc01edaa
2:166169967 SCN2A A>G	2	166169967	166169967	A	G	SCN2A	c.1035-163A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166169967A>G	(Likely) benign	1 lab	2af5bd4391
X:118222638 KIAA1210 T>G	X	118222638	118222638	T	G	KIAA1210	c.2027A>C	NM_001394962.1	NP_001381891.1:p.(Glu676Ala)	NC_000023.10:g.118222638T>G	VUS	1 lab	b4cce5e909
17:40489514 STAT3 G>A	17	40489514	40489514	G	A	STAT3	c.736C>T	NM_139276.3	NP_644805.1:p.(Arg246Trp)	NC_000017.10:g.40489514G>A	VUS	1 lab	b4cd059393
19:18900862 COMP G>T	19	18900862	18900862	G	T	COMP	c.279C>A	NM_000095.3	NP_000086.2:p.(Pro93=)	NC_000019.9:g.18900862G>T	(Likely) benign	1 lab	b4cfa50eb8
4:123258062 BLTP1 G>A	4	123258062	123258062	G	A	BLTP1	c.12301G>A	NM_001384125.1	NP_001371054.1:p.(Gly4101Arg)	NC_000004.11:g.123258062G>A	VUS	1 lab	b4d11abea9
4:155410458 DCHS2 G>T	4	155410458	155410458	G	T	DCHS2	c.2050C>A	NM_001358235.2	NP_001345164.1:p.(Gln684Lys)	NC_000004.11:g.155410458G>T	VUS	1 lab	b4d1fa74db
6:110778100 SLC22A16 C>T	6	110778100	110778100	C	T	SLC22A16	c.174G>A	NM_033125.4	NP_149116.2:p.(Val58=)	NC_000006.11:g.110778100C>T	VUS	1 lab	b4d2ab2565
19:36595884 WDR62 C>T	19	36595884	36595884	C	T	WDR62	c.4526C>T	NM_001083961.2	NP_001077430.1:p.(Ser1509Leu)	NC_000019.9:g.36595884C>T	VUS	1 lab	b4d2df2e5b
8:88363985 CNBD1 GTAT>G	8	88363985	88363991	GTAT	G	CNBD1	c.1119_1121del	NM_173538.3	NP_775809.1:p.(Ile374del)	NC_000008.10:g.88363989_88363991del	VUS	1 lab	b4d3f670b9
16:56539879 BBS2 C>T	16	56539879	56539879	C	T	BBS2	c.787G>A	NM_031885.5	NP_114091.4:p.(Gly263Ser)	NC_000016.9:g.56539879C>T	VUS	1 lab	b4d4f2924a
14:55369054 GCH1 G>C	14	55369054	55369054	G	C	GCH1	c.328C>G	NM_000161.3	NP_000152.1:p.(Gln110Glu)	NC_000014.8:g.55369054G>C	VUS	1 lab	b4d50958c9
11:47238425 DDB2 T>G	11	47238425	47238425	T	G	DDB2	c.281T>G	NM_000107.3	NP_000098.1:p.(Phe94Cys)	NC_000011.9:g.47238425T>G	VUS	1 lab	b4d557bd67
17:17700157 RAI1 G>A	17	17700157	17700157	G	A	RAI1	c.3895G>A	NM_030665.4	NP_109590.3:p.(Asp1299Asn)	NC_000017.10:g.17700157G>A	(Likely) benign	1 lab	b4d75a7d97
1:75684371 SLC44A5 C>T	1	75684371	75684371	C	T	SLC44A5	c.1333G>A	NM_001130058.2	NP_001123530.1:p.(Gly445Arg)	NC_000001.10:g.75684371C>T	VUS	1 lab	b4d89d08ee
X:32472949 DMD C>G	X	32472949	32472949	C	G	DMD	c.3433G>C	NM_004006.3	NP_003997.2:p.(Val1145Leu)	NC_000023.10:g.32472949C>G	(Likely) benign	1 lab	292b93ab3d
2:220435063 OBSL1 G>A	2	220435063	220435063	G	A	OBSL1	c.892C>T	NM_015311.3	NP_056126.1:p.(Arg298Cys)	NC_000002.11:g.220435063G>A	VUS	1 lab	b4da8484f1
1:155448672 ASH1L T>C	1	155448672	155448672	T	C	ASH1L	c.3989A>G	NM_018489.3	NP_060959.2:p.(His1330Arg)	NC_000001.10:g.155448672T>C	VUS	1 lab	b4dad03144
2:179407425 TTN C>T	2	179407425	179407425	C	T	TTN	c.97156G>A	NM_001267550.2	NP_001254479.2:p.(Gly32386Arg)	NC_000002.11:g.179407425C>T	VUS	1 lab	b4db585a93
X:71715057 HDAC8 G>A	X	71715057	71715057	G	A	HDAC8	c.499C>T	NM_018486.3	NP_060956.1:p.(Arg167Trp)	NC_000023.10:g.71715057G>A	VUS	1 lab	b4ddf5be19
16:88748042 SNAI3 C>T	16	88748042	88748042	C	T	SNAI3	c.157G>A	NM_178310.4	NP_840101.1:p.(Gly53Ser)	NC_000016.9:g.88748042C>T	(Likely) benign	1 lab	b4de001a32
X:31645974 DMD C>T	X	31645974	31645974	C	T	DMD	c.8033G>A	NM_004006.3	NP_003997.2:p.(Ser2678Asn)	NC_000023.10:g.31645974C>T	(Likely) benign	1 lab	b4de766aaa
1:31423117 PUM1 A>T	1	31423117	31423117	A	T	PUM1	c.2722-9T>A	NM_001020658.2	NP_001018494.1:p.?	NC_000001.10:g.31423117A>T	(Likely) benign	1 lab	b4df568a7a
2:15415683 NBAS G>A	2	15415683	15415683	G	A	NBAS	c.5649C>T	NM_015909.4	NP_056993.2:p.(Tyr1883=)	NC_000002.11:g.15415683G>A	VUS	1 lab	b4e08b1ba6
16:1402117 GNPTG G>C	16	1402117	1402117	G	C	GNPTG	c.67G>C	NM_032520.5	NP_115909.1:p.(Gly23Arg)	NC_000016.9:g.1402117G>C	(Likely) benign	1 lab	b4e1ff784d
6:70981794 COL9A1 A>G	6	70981794	70981794	A	G	COL9A1	c.1066-3T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70981794A>G	(Likely) benign	1 lab	b4e21a8ab9
4:122749668 BBS7 G>A	4	122749668	122749668	G	A	BBS7	c.1787-8C>T	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122749668G>A	(Likely) benign	1 lab	b4e348285c
X:119739320 MCTS1 G>T	X	119739320	119739320	G	T	MCTS1	c.70G>T	NM_014060.3	NP_054779.1:p.(Gly24Cys)	NC_000023.10:g.119739320G>T	(Likely) benign	1 lab	b4e379e9f7
2:32694567 BIRC6 A>G	2	32694567	32694567	A	G	BIRC6	c.6232A>G	NM_016252.4	NP_057336.3:p.(Thr2078Ala)	NC_000002.11:g.32694567A>G	VUS	1 lab	b51195690c
11:62287542 AHNAK C>T	11	62287542	62287542	C	T	AHNAK	c.14347G>A	NM_001620.3	NP_001611.1:p.(Val4783Met)	NC_000011.9:g.62287542C>T	(Likely) benign	1 lab	b4e7aefe42
14:77765831 POMT2 G>A	14	77765831	77765831	G	A	POMT2	c.890C>T	NM_013382.7	NP_037514.2:p.(Thr297Ile)	NC_000014.8:g.77765831G>A	VUS	1 lab	b4e9e587d2
6:35207577 SCUBE3 G>A	6	35207577	35207577	G	A	SCUBE3	c.878G>A	NM_152753.4	NP_689966.2:p.(Arg293His)	NC_000006.11:g.35207577G>A	VUS	1 lab	b4ec3af69d
3:172165884 GHSR CG>C	3	172165884	172165886	CG	C	GHSR	c.319del	NM_198407.2	NP_940799.1:p.(Arg107GlyfsTer31)	NC_000003.11:g.172165886del	(Likely) pathogenic	1 lab	b4ec672dd6
13:110844610 COL4A1 G>C	13	110844610	110844610	G	C	COL4A1	c.1487C>G	NM_001845.6	NP_001836.3:p.(Ala496Gly)	NC_000013.10:g.110844610G>C	(Likely) benign	1 lab	b4ef0f97dd
11:68115467 LRP5 G>A	11	68115467	68115467	G	A	LRP5	c.244G>A	NM_002335.4	NP_002326.2:p.(Val82Met)	NC_000011.9:g.68115467G>A	VUS	1 lab	b4ef2afd02
4:13544099 NKX3-2 C>G	4	13544099	13544099	C	G	NKX3-2	c.520G>C	NM_001189.4	NP_001180.1:p.(Val174Leu)	NC_000004.11:g.13544099C>G	(Likely) benign	1 lab	b4ef9b64e3
5:13811772 DNAH5 C>T	5	13811772	13811772	C	T	DNAH5	c.7391G>A	NM_001369.3	NP_001360.1:p.(Gly2464Asp)	NC_000005.9:g.13811772C>T	VUS	1 lab	b4f29208f9
1:1219475 SCNN1D C>T	1	1219475	1219475	C	T	SCNN1D	c.464+5C>T	NM_001130413.4	NP_001123885.2:p.?	NC_000001.10:g.1219475C>T	VUS	1 lab	b4f2abaf35
17:61800677 STRADA G>A	17	61800677	61800677	G	A	STRADA	c.104C>T	NM_001003787.4	NP_001003787.1:p.(Pro35Leu)	NC_000017.10:g.61800677G>A	(Likely) benign	1 lab	b4f309e872
3:196386693 NRROS G>A	3	196386693	196386693	G	A	NRROS	c.179G>A	NM_198565.3	NP_940967.1:p.(Arg60Gln)	NC_000003.11:g.196386693G>A	(Likely) benign	1 lab	b4f3acb753
17:1585516 PRPF8 C>T	17	1585516	1585516	C	T	PRPF8	c.341G>A	NM_006445.4	NP_006436.3:p.(Arg114Gln)	NC_000017.10:g.1585516C>T	VUS	1 lab	b4f5aa45e1
11:103086522 DYNC2H1 G>A	11	103086522	103086522	G	A	DYNC2H1	c.8767G>A	NM_001377.3	NP_001368.2:p.(Val2923Met)	NC_000011.9:g.103086522G>A	(Likely) benign	1 lab	b4f5e79276
15:99251115 IGF1R C>T	15	99251115	99251115	C	T	IGF1R	c.419C>T	NM_000875.5	NP_000866.1:p.(Ala140Val)	NC_000015.9:g.99251115C>T	VUS	1 lab	b4f5ff1370
9:35794005 NPR2 G>GA	9	35794005	35794006	G	GA	NPR2	c.779dup	NM_003995.4	NP_003986.2:p.(Ser261GlufsTer45)	NC_000009.11:g.35794006dup	(Likely) pathogenic	1 lab	b4f673dcd1
16:88803975 PIEZO1 C>T	16	88803975	88803975	C	T	PIEZO1	c.1187G>A	NM_001142864.4	NP_001136336.2:p.(Arg396Gln)	NC_000016.9:g.88803975C>T	(Likely) benign	1 lab	b4f735afc2
6:149699404 TAB2 A>G	6	149699404	149699404	A	G	TAB2	c.353A>G	NM_001292034.3	NP_001278963.1:p.(Asn118Ser)	NC_000006.11:g.149699404A>G	(Likely) benign	1 lab	b4f75483c5
17:78092556 GAA C>T	17	78092556	78092556	C	T	GAA	c.2751C>T	NM_000152.5	NP_000143.2:p.(Leu917=)	NC_000017.10:g.78092556C>T	(Likely) benign	1 lab	b4fa1a2c4d
X:48419187 TBC1D25 G>A	X	48419187	48419187	G	A	TBC1D25	c.1891G>A	NM_002536.4	NP_002527.1:p.(Asp631Asn)	NC_000023.10:g.48419187G>A	(Likely) benign	1 lab	b4fa95c2ee
1:234744863 IRF2BP2 G>A	1	234744863	234744863	G	A	IRF2BP2	c.378C>T	NM_182972.2	NP_892017.2:p.(Pro126=)	NC_000001.10:g.234744863G>A	(Likely) benign	1 lab	3302ff4f5b
5:154308079 GEMIN5 A>C	5	154308079	154308079	A	C	GEMIN5	c.914+8T>G	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154308079A>C	VUS	1 lab	b4fbcca187
1:22172735 HSPG2 C>T	1	22172735	22172735	C	T	HSPG2	c.8330G>A	NM_005529.7	NP_005520.4:p.(Arg2777Gln)	NC_000001.10:g.22172735C>T	(Likely) benign	1 lab	b4fc2af99d
9:135947023 CEL G>GCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCC	9	135947023	135947052	G	GCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCC	CEL	c.2162_2163insCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	NM_001807.6	NP_001798.3:p.(Gly721_Ser731dup)	NC_000009.11:g.135947051_135947052insCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGG	(Likely) benign	1 lab	b4fdc4636c
1:114441349 AP4B1 T>C	1	114441349	114441349	T	C	AP4B1	c.1189A>G	NM_001253852.3	NP_001240781.1:p.(Ile397Val)	NC_000001.10:g.114441349T>C	(Likely) benign	1 lab	b4fe56bc95
10:51889375 WASHC2A C>T	10	51889375	51889375	C	T	WASHC2A	c.3284C>T	NM_001005751.3	NP_001005751.1:p.(Ala1095Val)	NC_000010.10:g.51889375C>T	(Likely) benign	1 lab	b4ffcc5040
9:33796762 PRSS3 C>G	9	33796762	33796762	C	G	PRSS3	c.162C>G	NM_002771.4	NP_002762.3:p.(Ser54Arg)	NC_000009.11:g.33796762C>G	(Likely) benign	1 lab	b4ffd02a2d
4:187518273 FAT1 G>C	4	187518273	187518273	G	C	FAT1	c.12421C>G	NM_005245.4	NP_005236.2:p.(Leu4141Val)	NC_000004.11:g.187518273G>C	(Likely) benign	1 lab	b4ffe65ee9
2:228155600 COL4A3 A>G	2	228155600	228155600	A	G	COL4A3	c.3208A>G	NM_000091.5	NP_000082.2:p.(Thr1070Ala)	NC_000002.11:g.228155600A>G	VUS	1 lab	b500e0458a
20:25457323 NINL CTCT>C	20	25457323	25457326	CTCT	C	NINL	c.2601_2603del	NM_025176.6	NP_079452.3:p.(Glu868del)	NC_000020.10:g.25457324_25457326del	VUS	1 lab	b5016b5e82
X:30872571 TAB3 G>A	X	30872571	30872571	G	A	TAB3	c.1211C>T	NM_152787.5	NP_690000.3:p.(Thr404Met)	NC_000023.10:g.30872571G>A	VUS	1 lab	b52858619e
X:118230509 KIAA1210 C>T	X	118230509	118230509	C	T	KIAA1210	c.794G>A	NM_001394962.1	NP_001381891.1:p.(Arg265His)	NC_000023.10:g.118230509C>T	(Likely) benign	1 lab	b503af7cba
4:38972693 TMEM156 T>C	4	38972693	38972693	T	C	TMEM156	c.888A>G	NM_024943.3	NP_079219.1:p.(Leu296=)	NC_000004.11:g.38972693T>C	(Likely) benign	1 lab	b5046b7484
12:2531078 CACNA1C CAA>C	12	2531078	2531090	CAA	C	CACNA1C	c.478-27053_478-27052del	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2531089_2531090del	(Likely) benign	1 lab	b507ecb3a3
10:134599446 NKX6-2 T>A	10	134599446	134599446	T	A	NKX6-2	c.7A>T	NM_177400.3	NP_796374.2:p.(Thr3Ser)	NC_000010.10:g.134599446T>A	VUS	1 lab	b507fa265c
19:42866533 MEGF8 C>G	19	42866533	42866533	C	G	MEGF8	c.5845-3C>G	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42866533C>G	VUS	1 lab	b508e8e737
11:118454645 ARCN1 C>T	11	118454645	118454645	C	T	ARCN1	c.569C>T	NM_001655.5	NP_001646.2:p.(Ala190Val)	NC_000011.9:g.118454645C>T	(Likely) benign	1 lab	b50b92ebdc
2:179391800 TTN C>A	2	179391800	179391800	C	A	TTN	c.107915G>T	NM_001267550.2	NP_001254479.2:p.(Ser35972Ile)	NC_000002.11:g.179391800C>A	(Likely) benign	1 lab	b50bb89ae2
16:1574651 IFT140 G>T	16	1574651	1574651	G	T	IFT140	c.3043C>A	NM_014714.4	NP_055529.2:p.(His1015Asn)	NC_000016.9:g.1574651G>T	VUS	1 lab	b50d3c1dba
13:77807367 MYCBP2 C>T	13	77807367	77807367	C	T	MYCBP2	c.2661G>A	NM_015057.5	NP_055872.4:p.(Met887Ile)	NC_000013.10:g.77807367C>T	VUS	1 lab	b50e9d1f9e
16:2158578 PKD1 CGCTGGCA>C	16	2158578	2158591	CGCTGGCA	C	PKD1	c.6583_6589del	NM_001009944.3	NP_001009944.3:p.(Cys2195GlyfsTer15)	NC_000016.9:g.2158585_2158591del	(Likely) pathogenic	1 lab	b50ef3aec7
2:113330800 POLR1B C>T	2	113330800	113330800	C	T	POLR1B	c.2272-339C>T	NM_019014.6	NP_061887.2:p.?	NC_000002.11:g.113330800C>T	(Likely) benign	1 lab	b50ffdad6c
6:129609124 LAMA2 A>C	6	129609124	129609124	A	C	LAMA2	c.2670A>C	NM_000426.4	NP_000417.3:p.(Lys890Asn)	NC_000006.11:g.129609124A>C	(Likely) benign	1 lab	b510788b49
15:52664478 MYO5A T>C	15	52664478	52664478	T	C	MYO5A	c.2660A>G	NM_001382347.1	NP_001369276.1:p.(His887Arg)	NC_000015.9:g.52664478T>C	VUS	1 lab	b51165ae21
17:6599109 SLC13A5 A>T	17	6599109	6599109	A	T	SLC13A5	c.991T>A	NM_177550.5	NP_808218.1:p.(Phe331Ile)	NC_000017.10:g.6599109A>T	VUS	1 lab	b5373b1f46
7:2583265 BRAT1 G>A	7	2583265	2583265	G	A	BRAT1	c.762C>T	NM_001350626.2	NP_001337555.1:p.(Pro254=)	NC_000007.13:g.2583265G>A	(Likely) benign	1 lab	2afb36ada1
11:66616706 PC T>G	11	66616706	66616706	T	G	PC	c.3283A>C	NM_001040716.2	NP_001035806.1:p.(Met1095Leu)	NC_000011.9:g.66616706T>G	VUS	1 lab	b513c020a4
5:127671748 FBN2 A>G	5	127671748	127671748	A	G	FBN2	c.3656T>C	NM_001999.4	NP_001990.2:p.(Met1219Thr)	NC_000005.9:g.127671748A>G	VUS	1 lab	b516566d0a
17:73775274 H3-3B G>A	17	73775274	73775274	G	A	H3-3B	c.-10-9C>T	NM_005324.5	NP_005315.1:p.?	NC_000017.10:g.73775274G>A	(Likely) benign	1 lab	b5179fd0f7
17:78064032 CCDC40 A>G	17	78064032	78064032	A	G	CCDC40	c.2832+349A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064032A>G	(Likely) benign	1 lab	b519352bf8
1:200960054 KIF21B C>T	1	200960054	200960054	C	T	KIF21B	c.2678G>A	NM_001252102.2	NP_001239031.1:p.(Arg893His)	NC_000001.10:g.200960054C>T	(Likely) benign	1 lab	b51ccafd2f
14:75593423 NEK9 G>C	14	75593423	75593423	G	C	NEK9	c.202C>G	NM_033116.6	NP_149107.4:p.(Leu68Val)	NC_000014.8:g.75593423G>C	VUS	1 lab	b51ee7b16b
1:235606270 TBCE G>T	1	235606270	235606270	G	T	TBCE	c.1399+44G>T	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235606270G>T	(Likely) benign	1 lab	2afc2319a9
X:24329935 SUPT20HL2 C>A	X	24329935	24329935	C	A	SUPT20HL2	c.1498G>T	NM_001136233.3	NP_001129705.3:p.(Val500Leu)	NC_000023.10:g.24329935C>A	(Likely) benign	1 lab	b52136d368
14:79933561 NRXN3 C>T	14	79933561	79933561	C	T	NRXN3	c.3263-3C>T	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79933561C>T	(Likely) benign	1 lab	b5224720a1
22:19865595 TXNRD2 G>A	22	19865595	19865595	G	A	TXNRD2	c.1445+18C>T	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19865595G>A	(Likely) benign	1 lab	292cad1411
9:139639148 LCN6 T>C	9	139639148	139639148	T	C	LCN6	c.458A>G	NM_198946.3	NP_945184.1:p.(Lys153Arg)	NC_000009.11:g.139639148T>C	VUS	1 lab	b527dcd932
2:71895879 DYSF C>T	2	71895879	71895879	C	T	DYSF	c.5458-5C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71895879C>T	(Likely) benign	1 lab	b529659627
8:22054259 BMP1 A>AC	8	22054259	22054266	A	AC	BMP1	c.1839dup	NM_006129.5	NP_006120.1:p.(Asn614GlnfsTer21)	NC_000008.10:g.22054266dup	VUS	1 lab	b52a3a8e4a
X:140993751 MAGEC1 A>C	X	140993751	140993751	A	C	MAGEC1	c.561A>C	NM_005462.5	NP_005453.2:p.(Gln187His)	NC_000023.10:g.140993751A>C	VUS	1 lab	b52af24728
4:155298424 DCHS2 A>G	4	155298424	155298424	A	G	DCHS2	c.2225T>C	NM_001358235.2	NP_001345164.1:p.(Leu742Pro)	NC_000004.11:g.155298424A>G	(Likely) benign	1 lab	b52b0ff8df
10:28899691 WAC GACC>G	10	28899691	28899695	GACC	G	WAC	c.1231_1233del	NM_016628.5	NP_057712.2:p.(Pro411del)	NC_000010.10:g.28899693_28899695del	VUS	1 lab	b52b1aaace
16:88901669 GALNS A>C	16	88901669	88901669	A	C	GALNS	c.850T>G	NM_000512.5	NP_000503.1:p.(Phe284Val)	NC_000016.9:g.88901669A>C	(Likely) pathogenic	1 lab	b52b7c4f36
6:152772294 SYNE1 T>A	6	152772294	152772294	T	A	SYNE1	c.3074A>T	NM_182961.4	NP_892006.3:p.(Asp1025Val)	NC_000006.11:g.152772294T>A	(Likely) benign	1 lab	b52c285235
15:90190248 KIF7 A>G	15	90190248	90190248	A	G	KIF7	c.1601T>C	NM_198525.3	NP_940927.2:p.(Leu534Pro)	NC_000015.9:g.90190248A>G	VUS	1 lab	b52d9b8d08
1:152084575 TCHH C>T	1	152084575	152084575	C	T	TCHH	c.1118G>A	NM_007113.4	NP_009044.2:p.(Arg373His)	NC_000001.10:g.152084575C>T	VUS	1 lab	b5309d00c7
16:87637893 JPH3 CCTGCTGCTGCTGCTGCTGCTG>C	16	87637893	87637935	CCTGCTGCTGCTGCTGCTGCTG	C	JPH3	c.382+781_382+801del	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87637915_87637935del	(Likely) benign	1 lab	b530b375fd
11:17113084 PIK3C2A A>C	11	17113084	17113084	A	C	PIK3C2A	c.4752+10T>G	NM_002645.4	NP_002636.2:p.?	NC_000011.9:g.17113084A>C	(Likely) benign	1 lab	b530d718c4
2:121747650 GLI2 G>A	2	121747650	121747650	G	A	GLI2	c.4109G>A	NM_001374353.1	NP_001361282.1:p.(Arg1370His)	NC_000002.11:g.121747650G>A	(Likely) benign	1 lab	b53132f08a
12:116422048 MED13L C>T	12	116422048	116422048	C	T	MED13L	c.4468G>A	NM_015335.5	NP_056150.1:p.(Gly1490Ser)	NC_000012.11:g.116422048C>T	VUS	1 lab	b531db8262
1:22166435 HSPG2 G>A	1	22166435	22166435	G	A	HSPG2	c.9589C>T	NM_005529.7	NP_005520.4:p.(Gln3197Ter)	NC_000001.10:g.22166435G>A	(Likely) pathogenic	1 lab	b535994390
19:36255919 PROSER3 TGCCTTCTCCCTGCAGCAAA>T	19	36255919	36255942	TGCCTTCTCCCTGCAGCAAA	T	PROSER3	c.627-11_634del	NM_001367856.1	NP_001354785.1:p.?	NC_000019.9:g.36255924_36255942del	VUS	1 lab	b5379b24b8
9:94060256 AUH T>G	9	94060256	94060256	T	G	AUH	c.598+10A>C	NM_001698.3	NP_001689.1:p.?	NC_000009.11:g.94060256T>G	(Likely) benign	1 lab	b53acfb9e4
12:65456259 WIF1 A>G	12	65456259	65456259	A	G	WIF1	c.826+2T>C	NM_007191.5	NP_009122.2:p.?	NC_000012.11:g.65456259A>G	VUS	1 lab	b53b872b2d
5:79031833 CMYA5 A>C	5	79031833	79031833	A	C	CMYA5	c.7245A>C	NM_153610.5	NP_705838.3:p.(Glu2415Asp)	NC_000005.9:g.79031833A>C	VUS	1 lab	b53c93c1ef
7:40172694 MPLKIP T>G	7	40172694	40172694	T	G	MPLKIP	c.504A>C	NM_138701.4	NP_619646.1:p.(Gln168His)	NC_000007.13:g.40172694T>G	VUS	1 lab	b53cca8568
15:91455366 MAN2A2 C>T	15	91455366	91455366	C	T	MAN2A2	c.2203C>T	NM_006122.4	NP_006113.2:p.(Arg735Cys)	NC_000015.9:g.91455366C>T	VUS	1 lab	b53d6fd821
X:21863402 MBTPS2 A>C	X	21863402	21863402	A	C	MBTPS2	c.338A>C	NM_015884.4	NP_056968.1:p.(Tyr113Ser)	NC_000023.10:g.21863402A>C	(Likely) benign	1 lab	b53d9bbcac
14:51095049 ATL1 G>C	14	51095049	51095049	G	C	ATL1	c.1420G>C	NM_015915.5	NP_056999.2:p.(Ala474Pro)	NC_000014.8:g.51095049G>C	VUS	1 lab	b53de3f1f0
12:58145099 CDK4 C>T	12	58145099	58145099	C	T	CDK4	c.245G>A	NM_000075.4	NP_000066.1:p.(Arg82Gln)	NC_000012.11:g.58145099C>T	VUS	1 lab	b6e8d12bee
X:49021639 MAGIX C>T	X	49021639	49021639	C	T	MAGIX	c.619C>T	NM_024859.4	NP_079135.3:p.(Arg207Trp)	NC_000023.10:g.49021639C>T	(Likely) benign	1 lab	b53e6d5dea
16:72822077 ZFHX3 TTGCTGGTAC>T	16	72822077	72822091	TTGCTGGTAC	T	ZFHX3	c.10089_10097del	NM_006885.4	NP_008816.3:p.(Tyr3367_Gln3369del)	NC_000016.9:g.72822083_72822091del	VUS	1 lab	b53f9546fd
19:49379020 PPP1R15A C>T	19	49379020	49379020	C	T	PPP1R15A	c.1815C>T	NM_014330.5	NP_055145.3:p.(Pro605=)	NC_000019.9:g.49379020C>T	(Likely) benign	1 lab	b53fc17980
9:332496 DOCK8 T>C	9	332496	332496	T	C	DOCK8	c.1125+18T>C	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.332496T>C	(Likely) benign	1 lab	2b03c9f114
2:241536165 CAPN10 G>A	2	241536165	241536165	G	A	CAPN10	c.1549G>A	NM_023083.4	NP_075571.2:p.(Val517Met)	NC_000002.11:g.241536165G>A	VUS	1 lab	b541171e2e
10:72633115 SGPL1 A>G	10	72633115	72633115	A	G	SGPL1	c.1067A>G	NM_003901.4	NP_003892.2:p.(Tyr356Cys)	NC_000010.10:g.72633115A>G	VUS	1 lab	b5424f53da
15:48796004 FBN1 G>A	15	48796004	48796004	G	A	FBN1	c.2093C>T	NM_000138.5	NP_000129.3:p.(Pro698Leu)	NC_000015.9:g.48796004G>A	VUS	1 lab	b54339830a
11:2906365 CDKN1C G>A	11	2906365	2906365	G	A	CDKN1C	c.322C>T	NM_001122630.2	NP_001116102.1:p.(Leu108Phe)	NC_000011.9:g.2906365G>A	(Likely) benign	1 lab	b5444164e9
3:132403595 NPHP3 G>A	3	132403595	132403595	G	A	NPHP3	c.3373C>T	NM_153240.5	NP_694972.3:p.(Arg1125Ter)	NC_000003.11:g.132403595G>A	(Likely) pathogenic	1 lab	b544d0dd8f
14:81609492 TSHR A>T	14	81609492	81609492	A	T	TSHR	c.1090A>T	NM_000369.5	NP_000360.2:p.(Ile364Phe)	NC_000014.8:g.81609492A>T	VUS	1 lab	b54582d403
3:126708535 PLXNA1 GAGA>G	3	126708535	126708541	GAGA	G	PLXNA1	c.1103_1105del	NM_032242.4	NP_115618.3:p.(Lys368del)	NC_000003.11:g.126708539_126708541del	VUS	1 lab	b548853f80
2:44508526 SLC3A1 G>T	2	44508526	44508526	G	T	SLC3A1	c.611G>T	NM_000341.4	NP_000332.2:p.(Gly204Val)	NC_000002.11:g.44508526G>T	(Likely) pathogenic	1 lab	b5491ba09e
3:15271964 CAPN7 A>G	3	15271964	15271964	A	G	CAPN7	c.954A>G	NM_014296.3	NP_055111.1:p.(Gln318=)	NC_000003.11:g.15271964A>G	VUS	1 lab	b5c960fd5f
8:71041097 NCOA2 T>C	8	71041097	71041097	T	C	NCOA2	c.3443A>G	NM_006540.4	NP_006531.1:p.(Tyr1148Cys)	NC_000008.10:g.71041097T>C	VUS	1 lab	292f8d5dd0
11:76890784 MYO7A C>T	11	76890784	76890784	C	T	MYO7A	c.2371C>T	NM_000260.4	NP_000251.3:p.(Arg791Cys)	NC_000011.9:g.76890784C>T	VUS	1 lab	b558c9fa5b
22:41550984 EP300 CTTTT>C	22	41550984	41550995	CTTTT	C	EP300	c.3143-7_3143-4del	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41550992_41550995del	(Likely) benign	1 lab	b54980b7af
4:5624580 EVC2 C>G	4	5624580	5624580	C	G	EVC2	c.2185G>C	NM_147127.5	NP_667338.3:p.(Asp729His)	NC_000004.11:g.5624580C>G	VUS	1 lab	b54b91d0ab
6:116441427 COL10A1 C>A	6	116441427	116441427	C	A	COL10A1	c.1852G>T	NM_000493.4	NP_000484.2:p.(Gly618Cys)	NC_000006.11:g.116441427C>A	VUS	1 lab	b54bb14d7b
13:20611021 ZMYM2 G>A	13	20611021	20611021	G	A	ZMYM2	c.2264G>A	NM_197968.4	NP_932072.1:p.(Cys755Tyr)	NC_000013.10:g.20611021G>A	(Likely) benign	1 lab	b54dafbfd8
8:22052264 BMP1 G>A	8	22052264	22052264	G	A	BMP1	c.1471G>A	NM_006129.5	NP_006120.1:p.(Asp491Asn)	NC_000008.10:g.22052264G>A	VUS	1 lab	b54f881457
3:33109723 GLB1 T>G	3	33109723	33109723	T	G	GLB1	c.456A>C	NM_000404.4	NP_000395.3:p.(Pro152=)	NC_000003.11:g.33109723T>G	VUS	1 lab	b5516ede4f
4:184605356 TRAPPC11 C>G	4	184605356	184605356	C	G	TRAPPC11	c.1346C>G	NM_021942.6	NP_068761.4:p.(Pro449Arg)	NC_000004.11:g.184605356C>G	VUS	1 lab	b55369ee80
20:60639860 TAF4 G>T	20	60639860	60639860	G	T	TAF4	c.1007C>A	NM_003185.4	NP_003176.2:p.(Ala336Glu)	NC_000020.10:g.60639860G>T	(Likely) benign	1 lab	b5545efbf3
21:47552406 COL6A2 G>A	21	47552406	47552406	G	A	COL6A2	c.3000G>A	NM_001849.4	NP_001840.3:p.(Lys1000=)	NC_000021.8:g.47552406G>A	(Likely) benign	1 lab	b554f2d59f
X:129159340 BCORL1 G>A	X	129159340	129159340	G	A	BCORL1	c.4064G>A	NM_021946.5	NP_068765.3:p.(Arg1355Gln)	NC_000023.10:g.129159340G>A	VUS	1 lab	da6eebe366
1:89448896 KYAT3 A>T	1	89448896	89448896	A	T	KYAT3	c.99+5039T>A	NM_001008661.3	NP_001008661.1:p.?	NC_000001.10:g.89448896A>T	(Likely) benign	1 lab	b5562160f5
2:169850384 ABCB11 T>G	2	169850384	169850384	T	G	ABCB11	c.620A>C	NM_003742.4	NP_003733.2:p.(Asn207Thr)	NC_000002.11:g.169850384T>G	VUS	1 lab	b556d35314
4:123265695 BLTP1 A>C	4	123265695	123265695	A	C	BLTP1	c.12976A>C	NM_001384125.1	NP_001371054.1:p.(Thr4326Pro)	NC_000004.11:g.123265695A>C	VUS	1 lab	b556db07cc
4:174090107 GALNT7 A>G	4	174090107	174090107	A	G	GALNT7	c.121A>G	NM_017423.3	NP_059119.2:p.(Met41Val)	NC_000004.11:g.174090107A>G	(Likely) benign	1 lab	b5579a908a
15:63961875 HERC1 T>C	15	63961875	63961875	T	C	HERC1	c.8068A>G	NM_003922.4	NP_003913.3:p.(Thr2690Ala)	NC_000015.9:g.63961875T>C	VUS	1 lab	b558058bcd
9:84607870 SPATA31D1 G>C	9	84607870	84607870	G	C	SPATA31D1	c.2485G>C	NM_001001670.3	NP_001001670.1:p.(Ala829Pro)	NC_000009.11:g.84607870G>C	(Likely) benign	1 lab	b55aa0c7d9
19:18895132 COMP G>A	19	18895132	18895132	G	A	COMP	c.1956C>T	NM_000095.3	NP_000086.2:p.(Asn652=)	NC_000019.9:g.18895132G>A	(Likely) benign	1 lab	b55ac1d0a0
1:2234543 SKI G>GT	1	2234543	2234544	G	GT	SKI	c.1095+2dup	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2234544dup	VUS	1 lab	b55c2802a9
1:6111682 KCNAB2 C>T	1	6111682	6111682	C	T	KCNAB2	c.86C>T	NM_001199862.2	NP_001186791.1:p.(Thr29Met)	NC_000001.10:g.6111682C>T	VUS	1 lab	b55d0ddc58
2:73868446 NAT8 C>T	2	73868446	73868446	C	T	NAT8	c.310G>A	NM_003960.4	NP_003951.3:p.(Glu104Lys)	NC_000002.11:g.73868446C>T	(Likely) benign	1 lab	b55e0f7863
15:89400043 ACAN G>C	15	89400043	89400043	G	C	ACAN	c.4227G>C	NM_001369268.1	NP_001356197.1:p.(Glu1409Asp)	NC_000015.9:g.89400043G>C	VUS	1 lab	b5607e8618
16:76587352 CNTNAP4 G>A	16	76587352	76587352	G	A	CNTNAP4	c.3615G>A	NM_033401.5	NP_207837.2:p.(Gln1205=)	NC_000016.9:g.76587352G>A	VUS	1 lab	b5616c7c60
3:53752394 CACNA1D G>A	3	53752394	53752394	G	A	CACNA1D	c.1457G>A	NM_001128840.3	NP_001122312.1:p.(Arg486Gln)	NC_000003.11:g.53752394G>A	VUS	1 lab	b5648e4304
1:150532247 ADAMTSL4 C>T	1	150532247	150532247	C	T	ADAMTSL4	c.2954C>T	NM_019032.6	NP_061905.2:p.(Ser985Phe)	NC_000001.10:g.150532247C>T	VUS	1 lab	b565ca8ae2
4:2758009 TNIP2 C>T	4	2758009	2758009	C	T	TNIP2	c.8G>A	NM_024309.4	NP_077285.3:p.(Arg3Gln)	NC_000004.11:g.2758009C>T	VUS	1 lab	b5663e9fbe
8:94805495 TMEM67 C>T	8	94805495	94805495	C	T	TMEM67	c.1645C>T	NM_153704.6	NP_714915.3:p.(Arg549Cys)	NC_000008.10:g.94805495C>T	VUS	1 lab	b56712ddb4
1:78177549 USP33 T>C	1	78177549	78177549	T	C	USP33	c.2298-9A>G	NM_201624.3	NP_963918.1:p.?	NC_000001.10:g.78177549T>C	(Likely) benign	1 lab	b56806be06
6:101090573 ASCC3 G>A	6	101090573	101090573	G	A	ASCC3	c.3785C>T	NM_006828.4	NP_006819.2:p.(Pro1262Leu)	NC_000006.11:g.101090573G>A	VUS	1 lab	b5687a0961
14:64892539 MTHFD1 T>C	14	64892539	64892539	T	C	MTHFD1	c.947T>C	NM_005956.4	NP_005947.3:p.(Val316Ala)	NC_000014.8:g.64892539T>C	VUS	1 lab	b5690b1c13
5:70900202 MCCC2 C>A	5	70900202	70900202	C	A	MCCC2	c.531C>A	NM_022132.5	NP_071415.1:p.(Tyr177Ter)	NC_000005.9:g.70900202C>A	(Likely) pathogenic	1 lab	b56b110421
4:159092166 GASK1B A>G	4	159092166	159092166	A	G	GASK1B	c.362T>C	NM_001128424.2	NP_001121896.1:p.(Ile121Thr)	NC_000004.11:g.159092166A>G	VUS	1 lab	b56d640778
16:1034733 SOX8 A>C	16	1034733	1034733	A	C	SOX8	c.688A>C	NM_014587.5	NP_055402.2:p.(Thr230Pro)	NC_000016.9:g.1034733A>C	VUS	1 lab	b56de922f6
1:224378005 DEGS1 G>C	1	224378005	224378005	G	C	DEGS1	c.809G>C	NM_003676.4	NP_003667.1:p.(Gly270Ala)	NC_000001.10:g.224378005G>C	VUS	1 lab	b56fd59a48
X:71349791 NHSL2 G>A	X	71349791	71349791	G	A	NHSL2	c.281-2138G>A	NM_001013627.3	NP_001013649.2:p.?	NC_000023.10:g.71349791G>A	(Likely) benign	1 lab	b570b080b5
16:2140811 PKD1 T>A	16	2140811	2140811	T	A	PKD1	c.12004-2A>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140811T>A	(Likely) pathogenic	1 lab	b57155088f
19:7152776 INSR G>A	19	7152776	7152776	G	A	INSR	c.2192C>T	NM_000208.4	NP_000199.2:p.(Thr731Met)	NC_000019.9:g.7152776G>A	VUS	1 lab	b574315784
20:18516343 SEC23B A>T	20	18516343	18516343	A	T	SEC23B	c.1361A>T	NM_006363.6	NP_006354.2:p.(Asp454Val)	NC_000020.10:g.18516343A>T	VUS	1 lab	b575e1c99e
15:40764397 CHST14 C>T	15	40764397	40764397	C	T	CHST14	c.985C>T	NM_130468.4	NP_569735.1:p.(Arg329Trp)	NC_000015.9:g.40764397C>T	VUS	1 lab	b5763b2e74
8:125076823 FER1L6 A>G	8	125076823	125076823	A	G	FER1L6	c.3555+9A>G	NM_001039112.2	NP_001034201.2:p.?	NC_000008.10:g.125076823A>G	(Likely) benign	1 lab	b5792da270
5:118872217 HSD17B4 T>C	5	118872217	118872217	T	C	HSD17B4	c.2093T>C	NM_000414.4	NP_000405.1:p.(Val698Ala)	NC_000005.9:g.118872217T>C	VUS	1 lab	b57c64446d
9:78784693 PCSK5 G>A	9	78784693	78784693	G	A	PCSK5	c.1693G>A	NM_001372043.1	NP_001358972.1:p.(Ala565Thr)	NC_000009.11:g.78784693G>A	(Likely) benign	1 lab	b57d797da3
7:141860973 MGAM2 A>G	7	141860973	141860973	A	G	MGAM2	c.2394A>G	NM_001293626.2	NP_001280555.1:p.(Glu798=)	NC_000007.13:g.141860973A>G	VUS	1 lab	b57e3d9338
5:162059 PLEKHG4B G>A	5	162059	162059	G	A	PLEKHG4B	c.2649G>A	NM_052909.5	NP_443141.4:p.(Thr883=)	NC_000005.9:g.162059G>A	VUS	1 lab	b76df19665
9:94124152 AUH G>A	9	94124152	94124152	G	A	AUH	c.20C>T	NM_001698.3	NP_001689.1:p.(Ala7Val)	NC_000009.11:g.94124152G>A	VUS	1 lab	b57f2fde4f
15:89399795 ACAN G>A	15	89399795	89399795	G	A	ACAN	c.3979G>A	NM_001369268.1	NP_001356197.1:p.(Ala1327Thr)	NC_000015.9:g.89399795G>A	(Likely) benign	1 lab	b57fd8e2eb
1:145460201 POLR3GL G>A	1	145460201	145460201	G	A	POLR3GL	c.22C>T	NM_032305.3	NP_115681.1:p.(Arg8Trp)	NC_000001.10:g.145460201G>A	VUS	1 lab	b582132525
17:65924502 BPTF T>C	17	65924502	65924502	T	C	BPTF	c.5783T>C	NM_182641.4	NP_872579.2:p.(Ile1928Thr)	NC_000017.10:g.65924502T>C	(Likely) benign	1 lab	b582a218aa
22:18604357 TUBA8 C>G	22	18604357	18604357	C	G	TUBA8	c.115C>G	NM_018943.3	NP_061816.1:p.(Gln39Glu)	NC_000022.10:g.18604357C>G	(Likely) benign	1 lab	b582c5d215
13:23915790 SACS C>T	13	23915790	23915790	C	T	SACS	c.2225G>A	NM_014363.6	NP_055178.3:p.(Arg742Gln)	NC_000013.10:g.23915790C>T	VUS	1 lab	b583049ca6
17:37900355 GRB7 C>T	17	37900355	37900355	C	T	GRB7	c.696C>T	NM_005310.5	NP_005301.2:p.(Ile232=)	NC_000017.10:g.37900355C>T	(Likely) benign	1 lab	b58a6762b8
1:210856825 KCNH1 T>G	1	210856825	210856825	T	G	KCNH1	c.2768A>C	NM_172362.3	NP_758872.1:p.(Gln923Pro)	NC_000001.10:g.210856825T>G	(Likely) benign	1 lab	b58af2db5d
4:103826769 SLC9B1 G>A	4	103826769	103826769	G	A	SLC9B1	c.1234C>T	NM_139173.4	NP_631912.3:p.(Arg412Ter)	NC_000004.11:g.103826769G>A	(Likely) benign	1 lab	b58d87af4f
14:81609744 TSHR G>A	14	81609744	81609744	G	A	TSHR	c.1342G>A	NM_000369.5	NP_000360.2:p.(Val448Ile)	NC_000014.8:g.81609744G>A	VUS	1 lab	b58f094a74
2:74489312 SLC4A5 A>C	2	74489312	74489312	A	C	SLC4A5	c.763T>G	NM_133478.3	NP_597812.1:p.(Ser255Ala)	NC_000002.11:g.74489312A>C	(Likely) benign	1 lab	b58f68789e
1:33478872 AK2 G>C	1	33478872	33478872	G	C	AK2	c.630C>G	NM_001625.4	NP_001616.1:p.(Ile210Met)	NC_000001.10:g.33478872G>C	(Likely) benign	1 lab	b5907eee78
2:220081529 ABCB6 G>A	2	220081529	220081529	G	A	ABCB6	c.713C>T	NM_005689.4	NP_005680.1:p.(Thr238Ile)	NC_000002.11:g.220081529G>A	VUS	1 lab	b590c4fded
13:77672407 MYCBP2 T>C	13	77672407	77672407	T	C	MYCBP2	c.8882A>G	NM_015057.5	NP_055872.4:p.(Asp2961Gly)	NC_000013.10:g.77672407T>C	VUS	1 lab	b59212236b
2:179478561 TTN T>C	2	179478561	179478561	T	C	TTN	c.49449A>G	NM_001267550.1	NP_001254479.1:p.(Thr16483=)	NC_000002.11:g.179478561T>C	(Likely) benign	1 lab	2b05152035
15:60919476 RORA A>G	15	60919476	60919476	A	G	RORA	c.196+51380T>C	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60919476A>G	(Likely) benign	1 lab	b594060395
1:45798848 MUTYH G>A	1	45798848	45798848	G	A	MUTYH	c.305-6C>T	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45798848G>A	VUS	1 lab	b59813a6cc
1:144886092 PDE4DIP C>T	1	144886092	144886092	C	T	PDE4DIP	c.3335+5G>A	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144886092C>T	VUS	1 lab	b598824aa6
2:166152494 SCN2A G>A	2	166152494	166152494	G	A	SCN2A	c.161G>A	NM_001040142.2	NP_001035232.1:p.(Ser54Asn)	NC_000002.11:g.166152494G>A	VUS	1 lab	b598ecc7e3
7:142641752 KEL G>A	7	142641752	142641752	G	A	KEL	c.1391C>T	NM_000420.3	NP_000411.1:p.(Thr464Ile)	NC_000007.13:g.142641752G>A	(Likely) benign	1 lab	b599332c2f
22:41573237 EP300 T>C	22	41573237	41573237	T	C	EP300	c.5522T>C	NM_001429.4	NP_001420.2:p.(Val1841Ala)	NC_000022.10:g.41573237T>C	VUS	1 lab	b599f31eb9
3:119013860 ARHGAP31 C>T	3	119013860	119013860	C	T	ARHGAP31	c.100+9C>T	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119013860C>T	(Likely) benign	1 lab	b59ae592aa
7:158534425 ESYT2 T>C	7	158534425	158534425	T	C	ESYT2	c.1957A>G	NM_001367773.1	NP_001354702.1:p.(Ile653Val)	NC_000007.13:g.158534425T>C	(Likely) benign	1 lab	b59c25bcca
2:160082256 TANC1 A>G	2	160082256	160082256	A	G	TANC1	c.3869A>G	NM_033394.3	NP_203752.2:p.(Gln1290Arg)	NC_000002.11:g.160082256A>G	(Likely) benign	1 lab	b59cd714bc
6:1611005 FOXC1 A>G	6	1611005	1611005	A	G	FOXC1	c.325A>G	NM_001453.3	NP_001444.2:p.(Met109Val)	NC_000006.11:g.1611005A>G	VUS	1 lab	b59dc9acd5
2:204821438 ICOS G>C	2	204821438	204821438	G	C	ICOS	c.451G>C	NM_012092.3	NP_036224.1:p.(Val151Leu)	NC_000002.11:g.204821438G>C	(Likely) benign	1 lab	2b05357aea
2:182543279 NEUROD1 G>T	2	182543279	182543279	G	T	NEUROD1	c.309C>A	NM_002500.5	NP_002491.3:p.(Arg103=)	NC_000002.11:g.182543279G>T	(Likely) benign	1 lab	b5a0f3c88f
15:90209014 PLIN1 G>A	15	90209014	90209014	G	A	PLIN1	c.1369C>T	NM_002666.5	NP_002657.3:p.(Arg457Cys)	NC_000015.9:g.90209014G>A	VUS	1 lab	b5a1aeb2fe
17:41329965 NBR1 T>C	17	41329965	41329965	T	C	NBR1	c.115T>C	NM_005899.5	NP_005890.2:p.(Phe39Leu)	NC_000017.10:g.41329965T>C	VUS	1 lab	b5a39423ac
15:62170863 VPS13C T>C	15	62170863	62170863	T	C	VPS13C	c.10085A>G	NM_020821.3	NP_065872.1:p.(Asn3362Ser)	NC_000015.9:g.62170863T>C	VUS	1 lab	b5a3a2b68e
18:43502328 EPG5 G>C	18	43502328	43502328	G	C	EPG5	c.3077C>G	NM_020964.3	NP_066015.2:p.(Ser1026Cys)	NC_000018.9:g.43502328G>C	(Likely) benign	1 lab	3305f47770
10:70209805 DNA2 A>T	10	70209805	70209805	A	T	DNA2	c.919T>A	NM_001080449.3	NP_001073918.2:p.(Ser307Thr)	NC_000010.10:g.70209805A>T	(Likely) benign	1 lab	b5a56421bd
16:699807 WDR90 G>A	16	699807	699807	G	A	WDR90	c.55G>A	NM_145294.5	NP_660337.3:p.(Asp19Asn)	NC_000016.9:g.699807G>A	(Likely) benign	1 lab	b5a5b49d0d
X:140994173 MAGEC1 GTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGCTCAA>G	X	140994173	140994276	GTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGCTCAA	G	MAGEC1	c.984_1086del	NM_005462.5	NP_005453.2:p.(Ser328ArgfsTer25)	NC_000023.10:g.140994174_140994276del	VUS	1 lab	b5a6bd94a9
15:78894269 CHRNA3 G>A	15	78894269	78894269	G	A	CHRNA3	c.715C>T	NM_000743.5	NP_000734.2:p.(Arg239Cys)	NC_000015.9:g.78894269G>A	VUS	1 lab	b5a6e40ef8
11:17793790 KCNC1 C>CT	11	17793790	17793793	C	CT	KCNC1	c.1152dup	NM_001112741.2	NP_001106212.1:p.(Lys385Ter)	NC_000011.9:g.17793793dup	(Likely) pathogenic	1 lab	b5a937fd54
11:93432100 CEP295 C>T	11	93432100	93432100	C	T	CEP295	c.4022C>T	NM_033395.2	NP_203753.1:p.(Ser1341Leu)	NC_000011.9:g.93432100C>T	VUS	1 lab	b5a9dfb200
11:124135744 OR8G5 G>A	11	124135744	124135744	G	A	OR8G5	c.917G>A	NM_001005198.2	NP_001005198.2:p.(Gly306Glu)	NC_000011.9:g.124135744G>A	(Likely) benign	1 lab	b5abcf465d
16:2817704 SRRM2 G>A	16	2817704	2817704	G	A	SRRM2	c.7175G>A	NM_016333.4	NP_057417.3:p.(Arg2392His)	NC_000016.9:g.2817704G>A	VUS	1 lab	b5abcf73fb
5:60817179 ZSWIM6 G>A	5	60817179	60817179	G	A	ZSWIM6	c.1423G>A	NM_020928.2	NP_065979.1:p.(Val475Ile)	NC_000005.9:g.60817179G>A	VUS	1 lab	b5abf739cc
8:145540918 DGAT1 G>A	8	145540918	145540918	G	A	DGAT1	c.1095-3C>T	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145540918G>A	(Likely) benign	1 lab	b5ac47134f
1:6219413 CHD5 CATT>C	1	6219413	6219418	CATT	C	CHD5	c.367_369del	NM_015557.3	NP_056372.1:p.(Asn123del)	NC_000001.10:g.6219416_6219418del	VUS	1 lab	b5acbccffd
14:95910968 SYNE3 GCA>G	14	95910968	95910970	GCA	G	SYNE3	c.1633-5_1633-4del	NM_152592.6	NP_689805.3:p.?	NC_000014.8:g.95910969_95910970del	VUS	1 lab	b5acc14137
4:4861702 MSX1 G>C	4	4861702	4861702	G	C	MSX1	c.76G>C	NM_002448.3	NP_002439.2:p.(Gly26Arg)	NC_000004.11:g.4861702G>C	(Likely) benign	1 lab	b5aeb4fe1d
15:40764100 CHST14 A>G	15	40764100	40764100	A	G	CHST14	c.688A>G	NM_130468.4	NP_569735.1:p.(Ile230Val)	NC_000015.9:g.40764100A>G	VUS	1 lab	b5af95e469
9:36227352 GNE C>T	9	36227352	36227352	C	T	GNE	c.1174G>A	NM_005476.7	NP_005467.1:p.(Val392Met)	NC_000009.11:g.36227352C>T	(Likely) benign	1 lab	b5b0a34be6
15:31234088 FAN1 T>C	15	31234088	31234088	T	C	FAN1	c.*323T>C	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31234088T>C	(Likely) benign	1 lab	b5b0abd60d
X:102004137 GPRASP3 G>A	X	102004137	102004137	G	A	GPRASP3	c.214G>A	NM_001142524.2	NP_001135996.1:p.(Glu72Lys)	NC_000023.10:g.102004137G>A	(Likely) benign	1 lab	b5b120f93f
12:70735881 CNOT2 A>AT	12	70735881	70735883	A	AT	CNOT2	c.1179-4dup	NM_014515.7	NP_055330.1:p.?	NC_000012.11:g.70735883dup	(Likely) benign	1 lab	b5b19edbb2
15:31793850 OTUD7A C>G	15	31793850	31793850	C	G	OTUD7A	c.1171+43G>C	NM_001382637.1	NP_001369566.1:p.?	NC_000015.9:g.31793850C>G	(Likely) benign	1 lab	b5b1dfeddd
1:156105740 LMNA C>A	1	156105740	156105740	C	A	LMNA	c.985C>A	NM_170707.4	NP_733821.1:p.(Arg329Ser)	NC_000001.10:g.156105740C>A	VUS	1 lab	b5b314835f
17:33504124 UNC45B C>T	17	33504124	33504124	C	T	UNC45B	c.2114C>T	NM_001267052.2	NP_001253981.1:p.(Pro705Leu)	NC_000017.10:g.33504124C>T	(Likely) benign	1 lab	b5b5f9ff6d
12:106770154 POLR3B G>A	12	106770154	106770154	G	A	POLR3B	c.422G>A	NM_018082.6	NP_060552.4:p.(Arg141His)	NC_000012.11:g.106770154G>A	VUS	1 lab	b5b6f0b9f4
1:8422829 RERE T>C	1	8422829	8422829	T	C	RERE	c.1816A>G	NM_001042681.2	NP_001036146.1:p.(Ile606Val)	NC_000001.10:g.8422829T>C	(Likely) benign	1 lab	b5b7d61b84
14:59835465 DAAM1 CAGG>C	14	59835465	59835470	CAGG	C	DAAM1	c.3098_3100del	NM_001270520.2	NP_001257449.1:p.(Gly1033del)	NC_000014.8:g.59835468_59835470del	VUS	1 lab	b5b8a7a449
11:31823418 PAX6 C>T	11	31823418	31823418	C	T	PAX6	c.183+1G>A	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31823418C>T	VUS	1 lab	b5ba5edb7b
17:12661420 MYOCD T>G	17	12661420	12661420	T	G	MYOCD	c.2221T>G	NM_001146312.3	NP_001139784.1:p.(Ser741Ala)	NC_000017.10:g.12661420T>G	(Likely) benign	1 lab	b5bbdbceac
16:88870426 CDT1 A>G	16	88870426	88870426	A	G	CDT1	c.187A>G	NM_030928.4	NP_112190.2:p.(Arg63Gly)	NC_000016.9:g.88870426A>G	VUS	1 lab	b5bc56e331
8:94793215 TMEM67 A>C	8	94793215	94793215	A	C	TMEM67	c.978+5A>C	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94793215A>C	(Likely) benign	1 lab	b5bd004921
2:58393004 FANCL G>A	2	58393004	58393004	G	A	FANCL	c.546C>T	NM_018062.4	NP_060532.2:p.(Ser182=)	NC_000002.11:g.58393004G>A	(Likely) benign	1 lab	b5be99f641
22:45943012 FBLN1 G>A	22	45943012	45943012	G	A	FBLN1	c.1369G>A	NM_006486.3	NP_006477.3:p.(Val457Ile)	NC_000022.10:g.45943012G>A	(Likely) benign	1 lab	b5c04f1a9c
9:116150614 ALAD G>A	9	116150614	116150614	G	A	ALAD	c.959C>T	NM_000031.6	NP_000022.3:p.(Thr320Ile)	NC_000009.11:g.116150614G>A	VUS	1 lab	b5c14dad25
19:33355571 SLC7A9 T>G	19	33355571	33355571	T	G	SLC7A9	c.199A>C	NM_014270.5	NP_055085.1:p.(Ile67Leu)	NC_000019.9:g.33355571T>G	VUS	1 lab	b5c237b225
17:7752061 KDM6B C>T	17	7752061	7752061	C	T	KDM6B	c.2455C>T	NM_001348716.2	NP_001335645.1:p.(Arg819Trp)	NC_000017.10:g.7752061C>T	(Likely) benign	1 lab	b5c27cb634
1:112308722 DDX20 A>G	1	112308722	112308722	A	G	DDX20	c.1676A>G	NM_007204.5	NP_009135.4:p.(Asn559Ser)	NC_000001.10:g.112308722A>G	(Likely) benign	1 lab	b5c3e63b2b
2:207989004 KLF7 C>A	2	207989004	207989004	C	A	KLF7	c.227G>T	NM_003709.4	NP_003700.1:p.(Arg76Leu)	NC_000002.11:g.207989004C>A	(Likely) benign	1 lab	b5c5c7b349
7:83610773 SEMA3A T>C	7	83610773	83610773	T	C	SEMA3A	c.1516A>G	NM_006080.3	NP_006071.1:p.(Thr506Ala)	NC_000007.13:g.83610773T>C	(Likely) benign	1 lab	b5c5fc764d
8:144990407 PLEC C>T	8	144990407	144990407	C	T	PLEC	c.13582G>A	NM_201384.3	NP_958786.1:p.(Gly4528Ser)	NC_000008.10:g.144990407C>T	VUS	1 lab	b5c64bdb55
16:31201718 FUS C>T	16	31201718	31201718	C	T	FUS	c.1291C>T	NM_004960.4	NP_004951.1:p.(Pro431Ser)	NC_000016.9:g.31201718C>T	VUS	1 lab	b5c6d760fb
21:47822309 PCNT T>C	21	47822309	47822309	T	C	PCNT	c.5027T>C	NM_006031.6	NP_006022.3:p.(Ile1676Thr)	NC_000021.8:g.47822309T>C	(Likely) benign	1 lab	b5c88c81a7
7:140481417 BRAF C>G	7	140481417	140481417	C	G	BRAF	c.1391G>C	NM_004333.6	NP_004324.2:p.(Gly464Ala)	NC_000007.13:g.140481417C>G	(Likely) pathogenic	1 lab	2935fe3c9d
7:123301994 LMOD2 A>AGAG	7	123301994	123302012	A	AGAG	LMOD2	c.370_372dup	NM_207163.3	NP_997046.1:p.(Glu124dup)	NC_000007.13:g.123302010_123302012dup	VUS	1 lab	b5cbb86877
7:92147143 PEX1 T>C	7	92147143	92147143	T	C	PEX1	c.686A>G	NM_000466.3	NP_000457.1:p.(Asn229Ser)	NC_000007.13:g.92147143T>C	VUS	1 lab	b5ccb748a1
18:43496165 EPG5 T>C	18	43496165	43496165	T	C	EPG5	c.3391A>G	NM_020964.3	NP_066015.2:p.(Ile1131Val)	NC_000018.9:g.43496165T>C	(Likely) benign	1 lab	b5cd13544f
12:111885815 SH2B3 CTCCCTTCCTCACTGGGATTCAGAG>C	12	111885815	111885855	CTCCCTTCCTCACTGGGATTCAGAG	C	SH2B3	c.1454_1477del	NM_005475.3	NP_005466.1:p.(Asp485_Trp492del)	NC_000012.11:g.111885832_111885855del	(Likely) benign	1 lab	2b053b9f9f
1:40309779 TRIT1 A>G	1	40309779	40309779	A	G	TRIT1	c.1228T>C	NM_017646.6	NP_060116.2:p.(Trp410Arg)	NC_000001.10:g.40309779A>G	VUS	1 lab	b5d13a9c2f
4:153271212 FBXW7 T>C	4	153271212	153271212	T	C	FBXW7	c.566A>G	NM_001349798.2	NP_001336727.1:p.(Lys189Arg)	NC_000004.11:g.153271212T>C	(Likely) benign	1 lab	b5d1c2c2db
X:21675434 KLHL34 A>G	X	21675434	21675434	A	G	KLHL34	c.473T>C	NM_153270.3	NP_695002.1:p.(Leu158Ser)	NC_000023.10:g.21675434A>G	(Likely) benign	1 lab	b5d3761f95
6:33169041 SLC39A7 GC>G	6	33169041	33169047	GC	G	SLC39A7	c.25del	NM_006979.3	NP_008910.2:p.(His9ThrfsTer8)	NC_000006.11:g.33169047del	VUS	1 lab	b5d3f722ec
20:43254246 ADA C>A	20	43254246	43254246	C	A	ADA	c.442G>T	NM_000022.4	NP_000013.2:p.(Ala148Ser)	NC_000020.10:g.43254246C>A	VUS	1 lab	b5d4c5ec1f
X:24744565 POLA1 A>G	X	24744565	24744565	A	G	POLA1	c.1392+393A>G	NM_001330360.2	NP_001317289.1:p.?	NC_000023.10:g.24744565A>G	(Likely) benign	1 lab	b5d5dc8d8f
8:144997561 PLEC C>T	8	144997561	144997561	C	T	PLEC	c.6536G>A	NM_201384.3	NP_958786.1:p.(Arg2179Gln)	NC_000008.10:g.144997561C>T	(Likely) benign	1 lab	b5d6a902a2
16:88909494 GALNS T>G	16	88909494	88909494	T	G	GALNS	c.121-257A>C	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909494T>G	(Likely) benign	1 lab	b5d7ba5619
10:8100320 GATA3 C>T	10	8100320	8100320	C	T	GATA3	c.294C>T	NM_001002295.2	NP_001002295.1:p.(Asp98=)	NC_000010.10:g.8100320C>T	(Likely) benign	1 lab	2b06b9c7f0
17:67190619 ABCA10 A>G	17	67190619	67190619	A	G	ABCA10	c.1252T>C	NM_001377321.1	NP_001364250.1:p.(Tyr418His)	NC_000017.10:g.67190619A>G	(Likely) benign	1 lab	b5d8bc27fc
17:18145908 LLGL1 G>A	17	18145908	18145908	G	A	LLGL1	c.3082G>A	NM_004140.4	NP_004131.4:p.(Asp1028Asn)	NC_000017.10:g.18145908G>A	VUS	1 lab	b5dab70d32
19:7117426 INSR G>A	19	7117426	7117426	G	A	INSR	c.3795-5C>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7117426G>A	(Likely) benign	1 lab	b5db32ee87
11:8959686 ASCL3 G>C	11	8959686	8959686	G	C	ASCL3	c.23C>G	NM_020646.3	NP_065697.1:p.(Ser8Cys)	NC_000011.9:g.8959686G>C	(Likely) benign	1 lab	b5dd9fe372
11:16119240 SOX6 G>A	11	16119240	16119240	G	A	SOX6	c.899-6C>T	NM_001367873.1	NP_001354802.1:p.?	NC_000011.9:g.16119240G>A	(Likely) benign	1 lab	b5deb50c1c
13:38156622 POSTN G>A	13	38156622	38156622	G	A	POSTN	c.1273C>T	NM_006475.3	NP_006466.2:p.(Leu425Phe)	NC_000013.10:g.38156622G>A	VUS	1 lab	b5df629cc9
10:30615420 MTPAP G>A	10	30615420	30615420	G	A	MTPAP	c.925C>T	NM_018109.4	NP_060579.3:p.(Arg309Trp)	NC_000010.10:g.30615420G>A	VUS	1 lab	b5dfd1fbf9
17:61995511 GH1 G>T	17	61995511	61995511	G	T	GH1	c.172-15C>A	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995511G>T	(Likely) benign	1 lab	b5e1019726
21:46924345 COL18A1 C>T	21	46924345	46924345	C	T	COL18A1	c.2743C>T	NM_001379500.1	NP_001366429.1:p.(Arg915Ter)	NC_000021.8:g.46924345C>T	VUS	1 lab	b5e19c51ac
X:73962717 NEXMIF C>T	X	73962717	73962717	C	T	NEXMIF	c.1675G>A	NM_001008537.3	NP_001008537.1:p.(Gly559Ser)	NC_000023.10:g.73962717C>T	VUS	1 lab	b5e318572f
19:10934457 DNM2 C>G	19	10934457	10934457	C	G	DNM2	c.1782-7C>G	NM_001005361.3	NP_001005361.1:p.?	NC_000019.9:g.10934457C>G	(Likely) benign	1 lab	b5e51141a4
6:37619830 MDGA1 G>A	6	37619830	37619830	G	A	MDGA1	c.1269C>T	NM_153487.4	NP_705691.1:p.(Pro423=)	NC_000006.11:g.37619830G>A	(Likely) benign	1 lab	b5e674aa8c
2:230654406 TRIP12 A>C	2	230654406	230654406	A	C	TRIP12	c.4616T>G	NM_001348323.3	NP_001335252.1:p.(Phe1539Cys)	NC_000002.11:g.230654406A>C	(Likely) benign	1 lab	b5e72ef7bd
19:15375499 BRD4 G>T	19	15375499	15375499	G	T	BRD4	c.928C>A	NM_001379291.1	NP_001366220.1:p.(Pro310Thr)	NC_000019.9:g.15375499G>T	(Likely) benign	1 lab	b5e7e4044f
16:2138318 TSC2 C>T	16	2138318	2138318	C	T	TSC2	c.5251C>T	NM_000548.5	NP_000539.2:p.(Arg1751Cys)	NC_000016.9:g.2138318C>T	VUS	1 lab	b5ea466660
15:99482424 IGF1R C>T	15	99482424	99482424	C	T	IGF1R	c.3298-6C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99482424C>T	(Likely) benign	1 lab	b5eb71d4e1
10:71146133 HK1 G>A	10	71146133	71146133	G	A	HK1	c.1894G>A	NM_000188.3	NP_000179.2:p.(Asp632Asn)	NC_000010.10:g.71146133G>A	VUS	1 lab	29387a791a
4:88967916 PKD2 GT>G	4	88967916	88967919	GT	G	PKD2	c.1445del	NM_000297.4	NP_000288.1:p.(Phe482SerfsTer32)	NC_000004.11:g.88967919del	(Likely) pathogenic	1 lab	b5eed4ee71
17:10432499 MYH2 T>C	17	10432499	10432499	T	C	MYH2	c.3334A>G	NM_017534.6	NP_060004.3:p.(Lys1112Glu)	NC_000017.10:g.10432499T>C	VUS	1 lab	b5efd68e03
17:78264372 RNF213 G>T	17	78264372	78264372	G	T	RNF213	c.1116G>T	NM_001256071.3	NP_001243000.2:p.(Thr372=)	NC_000017.10:g.78264372G>T	(Likely) benign	1 lab	b5efd8c85d
15:99500471 IGF1R A>T	15	99500471	99500471	A	T	IGF1R	c.3904A>T	NM_000875.5	NP_000866.1:p.(Ser1302Cys)	NC_000015.9:g.99500471A>T	VUS	1 lab	b615532c44
12:111785429 CUX2 CAG>C	12	111785429	111785432	CAG	C	CUX2	c.3763_3764del	NM_015267.4	NP_056082.2:p.(Asp1255ProfsTer7)	NC_000012.11:g.111785431_111785432del	(Likely) benign	1 lab	b5f0b63282
X:38033410 SRPX C>CA	X	38033410	38033411	C	CA	SRPX	c.349+2dup	NM_006307.5	NP_006298.1:p.?	NC_000023.10:g.38033411dup	VUS	1 lab	b5f1fe586c
20:32251496 NECAB3 A>ACTG	20	32251496	32251509	A	ACTG	NECAB3	c.388-3298_388-3296dup	NM_031232.4	NP_112509.3:p.?	NC_000020.10:g.32251507_32251509dup	VUS	1 lab	b5f25e7fad
1:197115421 ASPM G>T	1	197115421	197115421	G	T	ASPM	c.147C>A	NM_018136.5	NP_060606.3:p.(Phe49Leu)	NC_000001.10:g.197115421G>T	VUS	1 lab	b5f2f1adb6
14:79111507 NRXN3 T>C	14	79111507	79111507	T	C	NRXN3	c.802T>C	NM_001330195.2	NP_001317124.1:p.(Cys268Arg)	NC_000014.8:g.79111507T>C	VUS	1 lab	b5f2fb9edb
1:45799249 MUTYH G>A	1	45799249	45799249	G	A	MUTYH	c.116-16C>T	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45799249G>A	VUS	1 lab	b6153f2d1e
12:93966739 SOCS2 C>T	12	93966739	93966739	C	T	SOCS2	c.66C>T	NM_001270471.2	NP_001257400.1:p.(Thr22=)	NC_000012.11:g.93966739C>T	(Likely) benign	1 lab	b5fa40a539
9:137006660 WDR5 C>T	9	137006660	137006660	C	T	WDR5	c.219C>T	NM_017588.3	NP_060058.1:p.(Gly73=)	NC_000009.11:g.137006660C>T	(Likely) benign	1 lab	b5fdee7c00
14:74975956 LTBP2 C>T	14	74975956	74975956	C	T	LTBP2	c.3388G>A	NM_000428.3	NP_000419.1:p.(Gly1130Ser)	NC_000014.8:g.74975956C>T	VUS	1 lab	b5ff01ad1d
18:47479703 MYO5B A>C	18	47479703	47479703	A	C	MYO5B	c.1679T>G	NM_001080467.3	NP_001073936.1:p.(Leu560Arg)	NC_000018.9:g.47479703A>C	VUS	1 lab	b5ffd1f019
2:238280491 COL6A3 G>A	2	238280491	238280491	G	A	COL6A3	c.4169C>T	NM_004369.4	NP_004360.2:p.(Ser1390Leu)	NC_000002.11:g.238280491G>A	(Likely) benign	1 lab	b6003e4106
13:20797472 GJB6 C>A	13	20797472	20797472	C	A	GJB6	c.148G>T	NM_001110219.3	NP_001103689.1:p.(Asp50Tyr)	NC_000013.10:g.20797472C>A	VUS	1 lab	29399a35c9
X:76937299 ATRX T>C	X	76937299	76937299	T	C	ATRX	c.3449A>G	NM_000489.6	NP_000480.3:p.(Gln1150Arg)	NC_000023.10:g.76937299T>C	(Likely) benign	1 lab	b6049623c7
1:170513973 GORAB T>C	1	170513973	170513973	T	C	GORAB	c.649T>C	NM_152281.3	NP_689494.3:p.(Tyr217His)	NC_000001.10:g.170513973T>C	VUS	1 lab	b604e0f20b
1:168074093 GPR161 A>T	1	168074093	168074093	A	T	GPR161	c.-5T>A	NM_001375883.1	NP_001362812.1:p.?	NC_000001.10:g.168074093A>T	VUS	1 lab	b605a9be13
9:35107673 ATOSB C>T	9	35107673	35107673	C	T	ATOSB	c.599G>A	NM_025182.4	NP_079458.2:p.(Ser200Asn)	NC_000009.11:g.35107673C>T	VUS	1 lab	b6c6b3ad74
14:105406868 AHNAK2 T>C	14	105406868	105406868	T	C	AHNAK2	c.14920A>G	NM_138420.4	NP_612429.2:p.(Lys4974Glu)	NC_000014.8:g.105406868T>C	(Likely) benign	1 lab	b6078ab519
4:1801001 FGFR3 G>A	4	1801001	1801001	G	A	FGFR3	c.130G>A	NM_000142.5	NP_000133.1:p.(Gly44Ser)	NC_000004.11:g.1801001G>A	(Likely) benign	1 lab	b609ac492a
14:74971769 LTBP2 C>T	14	74971769	74971769	C	T	LTBP2	c.4286G>A	NM_000428.3	NP_000419.1:p.(Arg1429Gln)	NC_000014.8:g.74971769C>T	(Likely) benign	1 lab	b609f228ba
19:1827388 REXO1 G>A	19	1827388	1827388	G	A	REXO1	c.1400C>T	NM_020695.4	NP_065746.3:p.(Pro467Leu)	NC_000019.9:g.1827388G>A	(Likely) benign	1 lab	b60a7b17ae
17:27067912 NEK8 C>T	17	27067912	27067912	C	T	NEK8	c.1641C>T	NM_178170.3	NP_835464.1:p.(Ala547=)	NC_000017.10:g.27067912C>T	(Likely) benign	1 lab	2b0a20613a
X:47486218 CFP G>A	X	47486218	47486218	G	A	CFP	c.894C>T	NM_002621.2	NP_002612.1:p.(Gly298=)	NC_000023.10:g.47486218G>A	(Likely) benign	1 lab	2b0a2fd7c1
16:72159302 PMFBP1 G>A	16	72159302	72159302	G	A	PMFBP1	c.2256C>T	NM_031293.3	NP_112583.2:p.(Leu752=)	NC_000016.9:g.72159302G>A	(Likely) benign	1 lab	b60dd41c7b
1:76211505 ACADM C>T	1	76211505	76211505	C	T	ACADM	c.614C>T	NM_000016.6	NP_000007.1:p.(Ala205Val)	NC_000001.10:g.76211505C>T	VUS	1 lab	b60e9e7f6c
1:1277735 DVL1 G>A	1	1277735	1277735	G	A	DVL1	c.362+8C>T	NM_001330311.2	NP_001317240.1:p.?	NC_000001.10:g.1277735G>A	(Likely) benign	1 lab	b60f634f08
2:196726612 DNAH7 A>G	2	196726612	196726612	A	G	DNAH7	c.7565T>C	NM_018897.3	NP_061720.2:p.(Met2522Thr)	NC_000002.11:g.196726612A>G	VUS	1 lab	b610411008
19:51171228 SHANK1 G>C	19	51171228	51171228	G	C	SHANK1	c.3989C>G	NM_016148.5	NP_057232.2:p.(Thr1330Ser)	NC_000019.9:g.51171228G>C	(Likely) benign	1 lab	b610cf3a7f
16:21211177 ZP2 A>G	16	21211177	21211177	A	G	ZP2	c.1717T>C	NM_001376232.1	NP_001363161.1:p.(Tyr573His)	NC_000016.9:g.21211177A>G	VUS	1 lab	b61104d15b
12:54925619 NCKAP1L T>C	12	54925619	54925619	T	C	NCKAP1L	c.2781+10T>C	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54925619T>C	(Likely) benign	1 lab	2b0aa1ec30
3:48684307 CELSR3 G>T	3	48684307	48684307	G	T	CELSR3	c.7184C>A	NM_001407.3	NP_001398.2:p.(Pro2395Gln)	NC_000003.11:g.48684307G>T	(Likely) benign	1 lab	b6137507cc
8:145741719 RECQL4 G>A	8	145741719	145741719	G	A	RECQL4	c.784C>T	NM_004260.4	NP_004251.4:p.(Arg262Trp)	NC_000008.10:g.145741719G>A	VUS	1 lab	b6148d928b
3:99514718 COL8A1 C>T	3	99514718	99514718	C	T	COL8A1	c.1973C>T	NM_020351.4	NP_065084.2:p.(Pro658Leu)	NC_000003.11:g.99514718C>T	VUS	1 lab	b614e75d04
5:67576763 PIK3R1 A>G	5	67576763	67576763	A	G	PIK3R1	c.845A>G	NM_181523.3	NP_852664.1:p.(Asn282Ser)	NC_000005.9:g.67576763A>G	(Likely) benign	1 lab	b615a858cc
3:39178729 TTC21A G>A	3	39178729	39178729	G	A	TTC21A	c.3301G>A	NM_001366900.1	NP_001353829.1:p.(Ala1101Thr)	NC_000003.11:g.39178729G>A	(Likely) benign	1 lab	b616e4a22b
14:75002697 LTBP2 G>A	14	75002697	75002697	G	A	LTBP2	c.1796C>T	NM_000428.3	NP_000419.1:p.(Pro599Leu)	NC_000014.8:g.75002697G>A	VUS	1 lab	b617d7954b
8:141583027 AGO2 T>C	8	141583027	141583027	T	C	AGO2	c.220A>G	NM_012154.5	NP_036286.2:p.(Ile74Val)	NC_000008.10:g.141583027T>C	(Likely) benign	1 lab	b6183d86d9
3:126733334 PLXNA1 C>T	3	126733334	126733334	C	T	PLXNA1	c.2618C>T	NM_032242.4	NP_115618.3:p.(Thr873Met)	NC_000003.11:g.126733334C>T	VUS	1 lab	b618bd4e8a
2:157435514 GPD2 G>C	2	157435514	157435514	G	C	GPD2	c.1880+1G>C	NM_000408.5	NP_000399.3:p.?	NC_000002.11:g.157435514G>C	VUS	1 lab	b619068b21
17:44304161 KANSL1 A>AC	17	44304161	44304162	A	AC	KANSL1				NC_000017.10:g.44304161_44304162insC	VUS	1 lab	b6199102b9
12:49375253 WNT1 T>G	12	49375253	49375253	T	G	WNT1	c.943T>G	NM_005430.4	NP_005421.1:p.(Cys315Gly)	NC_000012.11:g.49375253T>G	VUS	1 lab	b619f11fea
1:9670583 TMEM201 G>A	1	9670583	9670583	G	A	TMEM201	c.1485G>A	NM_001130924.3	NP_001124396.2:p.(Ser495=)	NC_000001.10:g.9670583G>A	VUS	1 lab	b61b6da849
9:139408977 NOTCH1 C>T	9	139408977	139408977	C	T	NOTCH1	c.2192G>A	NM_017617.5	NP_060087.3:p.(Arg731Gln)	NC_000009.11:g.139408977C>T	(Likely) benign	1 lab	b61be5b746
2:60688631 BCL11A G>C	2	60688631	60688631	G	C	BCL11A	c.1416C>G	NM_022893.4	NP_075044.2:p.(Ser472Arg)	NC_000002.11:g.60688631G>C	VUS	1 lab	b6211264fa
1:35250786 GJB3 T>TG	1	35250786	35250787	T	TG	GJB3	c.424dup	NM_024009.3	NP_076872.1:p.(Glu142GlyfsTer64)	NC_000001.10:g.35250787dup	VUS	1 lab	b626fcd751
22:50964731 TYMP C>T	22	50964731	50964731	C	T	TYMP	c.1103G>A	NM_001953.5	NP_001944.1:p.(Arg368His)	NC_000022.10:g.50964731C>T	VUS	1 lab	b6271755af
15:77143200 SCAPER CA>C	15	77143200	77143218	CA	C	SCAPER	c.195+6949del	NM_020843.4	NP_065894.2:p.?	NC_000015.9:g.77143218del	(Likely) benign	1 lab	b627b75d2d
22:24036619 RGL4 C>T	22	24036619	24036619	C	T	RGL4	c.998C>T	NM_153615.2	NP_705843.1:p.(Thr333Met)	NC_000022.10:g.24036619C>T	VUS	1 lab	b628348583
16:3740966 TRAP1 G>A	16	3740966	3740966	G	A	TRAP1	c.109C>T	NM_016292.3	NP_057376.2:p.(Arg37Trp)	NC_000016.9:g.3740966G>A	(Likely) benign	1 lab	b62c094eb1
X:57162543 SPIN2A T>G	X	57162543	57162543	T	G	SPIN2A	c.488A>C	NM_019003.5	NP_061876.3:p.(Tyr163Ser)	NC_000023.10:g.57162543T>G	VUS	1 lab	b62c3be45c
16:16271387 ABCC6 G>C	16	16271387	16271387	G	C	ABCC6	c.2512C>G	NM_001171.6	NP_001162.5:p.(Gln838Glu)	NC_000016.9:g.16271387G>C	VUS	1 lab	b62c4eb87a
7:44146465 AEBP1 G>A	7	44146465	44146465	G	A	AEBP1	c.574G>A	NM_001129.5	NP_001120.3:p.(Glu192Lys)	NC_000007.13:g.44146465G>A	(Likely) benign	1 lab	b62f162568
2:228159678 COL4A3 A>T	2	228159678	228159678	A	T	COL4A3	c.3419-2A>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228159678A>T	(Likely) benign	1 lab	b62fb03b2c
1:12333181 VPS13D C>T	1	12333181	12333181	C	T	VPS13D	c.2225C>T	NM_015378.4	NP_056193.2:p.(Thr742Met)	NC_000001.10:g.12333181C>T	VUS	1 lab	b62ff47bb3
1:167097057 STYXL2 C>T	1	167097057	167097057	C	T	STYXL2	c.2689C>T	NM_001080426.3	NP_001073895.1:p.(Arg897Ter)	NC_000001.10:g.167097057C>T	VUS	1 lab	b6306b7b44
17:10307672 MYH8 T>A	17	10307672	10307672	T	A	MYH8	c.2663A>T	NM_002472.3	NP_002463.2:p.(Asn888Ile)	NC_000017.10:g.10307672T>A	VUS	1 lab	b63095ae76
2:16086191 MYCN A>G	2	16086191	16086191	A	G	MYCN	c.1367A>G	NM_005378.6	NP_005369.2:p.(Lys456Arg)	NC_000002.11:g.16086191A>G	(Likely) benign	1 lab	b630f6a1c7
12:103288572 PAH A>G	12	103288572	103288572	A	G	PAH	c.293T>C	NM_000277.3	NP_000268.1:p.(Leu98Ser)	NC_000012.11:g.103288572A>G	(Likely) pathogenic	1 lab	2b0e2f3ff2
1:22168617 HSPG2 A>G	1	22168617	22168617	A	G	HSPG2	c.9071T>C	NM_005529.7	NP_005520.4:p.(Ile3024Thr)	NC_000001.10:g.22168617A>G	VUS	1 lab	b63351da99
12:121431305 HNF1A G>A	12	121431305	121431305	G	A	HNF1A	c.527-18G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121431305G>A	VUS	1 lab	b633df0493
19:1529418 PLK5 C>T	19	1529418	1529418	C	T	PLK5	c.419C>T	NM_001243079.2	NP_001230008.1:p.(Ala140Val)	NC_000019.9:g.1529418C>T	(Likely) benign	1 lab	b635221be9
16:28509252 APOBR G>A	16	28509252	28509252	G	A	APOBR	c.2890G>A	NM_018690.4	NP_061160.3:p.(Gly964Arg)	NC_000016.9:g.28509252G>A	VUS	1 lab	b635c8a3e6
19:50100654 PRR12 C>T	19	50100654	50100654	C	T	PRR12	c.3062C>T	NM_020719.3	NP_065770.1:p.(Thr1021Met)	NC_000019.9:g.50100654C>T	VUS	1 lab	b635e8c088
9:141015221 CACNA1B G>A	9	141015221	141015221	G	A	CACNA1B	c.6377G>A	NM_000718.4	NP_000709.1:p.(Arg2126His)	NC_000009.11:g.141015221G>A	VUS	1 lab	b6368bbd32
2:48033716 MSH6 A>G	2	48033716	48033716	A	G	MSH6	c.3927A>G	NM_000179.3	NP_000170.1:p.(Pro1309=)	NC_000002.11:g.48033716A>G	(Likely) benign	1 lab	b636f415f0
21:38878542 DYRK1A G>A	21	38878542	38878542	G	A	DYRK1A	c.1644+16G>A	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38878542G>A	(Likely) benign	1 lab	b637d1048c
11:3752687 NUP98 T>C	11	3752687	3752687	T	C	NUP98	c.1664A>G	NM_016320.5	NP_057404.2:p.(Lys555Arg)	NC_000011.9:g.3752687T>C	VUS	1 lab	b63898ceb1
8:145545074 DGAT1 G>A	8	145545074	145545074	G	A	DGAT1	c.201-3C>T	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145545074G>A	(Likely) benign	1 lab	b6397515c3
11:118635907 DDX6 C>A	11	118635907	118635907	C	A	DDX6	c.646+10G>T	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118635907C>A	(Likely) benign	1 lab	b6398692d7
9:136333062 CACFD1 G>A	9	136333062	136333062	G	A	CACFD1	c.340G>A	NM_017586.5	NP_060056.1:p.(Val114Ile)	NC_000009.11:g.136333062G>A	(Likely) benign	1 lab	b63a6cf0e3
17:10546312 MYH3 T>G	17	10546312	10546312	T	G	MYH3	c.1412A>C	NM_002470.4	NP_002461.2:p.(Tyr471Ser)	NC_000017.10:g.10546312T>G	VUS	1 lab	b63aee7e2d
X:132887546 GPC3 T>C	X	132887546	132887546	T	C	GPC3	c.995A>G	NM_004484.4	NP_004475.1:p.(Gln332Arg)	NC_000023.10:g.132887546T>C	(Likely) benign	1 lab	b63cffd6aa
9:2123755 SMARCA2 A>C	9	2123755	2123755	A	C	SMARCA2	c.3799A>C	NM_003070.5	NP_003061.3:p.(Asn1267His)	NC_000009.11:g.2123755A>C	(Likely) benign	1 lab	b63eabb5ec
1:1455977 ATAD3A T>C	1	1455977	1455977	T	C	ATAD3A	c.730T>C	NM_001170535.3	NP_001164006.1:p.(Trp244Arg)	NC_000001.10:g.1455977T>C	(Likely) benign	1 lab	b63f8bb99a
15:28502342 HERC2 G>A	15	28502342	28502342	G	A	HERC2	c.2382C>T	NM_004667.6	NP_004658.3:p.(Ile794=)	NC_000015.9:g.28502342G>A	VUS	1 lab	b63ffc2e71
2:145157005 ZEB2 G>T	2	145157005	145157005	G	T	ZEB2	c.1749C>A	NM_014795.4	NP_055610.1:p.(Cys583Ter)	NC_000002.11:g.145157005G>T	VUS	1 lab	b64087ba15
13:51501562 RNASEH2B AAAG>A	13	51501562	51501569	AAAG	A	RNASEH2B	c.89_91del	NM_024570.4	NP_078846.2:p.(Lys30del)	NC_000013.10:g.51501567_51501569del	VUS	1 lab	b6429a8675
7:4823425 AP5Z1 G>A	7	4823425	4823425	G	A	AP5Z1	c.617G>A	NM_014855.3	NP_055670.1:p.(Arg206Gln)	NC_000007.13:g.4823425G>A	VUS	1 lab	b6432aa32b
1:173802608 DARS2 A>G	1	173802608	173802608	A	G	DARS2	c.587A>G	NM_018122.5	NP_060592.2:p.(Lys196Arg)	NC_000001.10:g.173802608A>G	(Likely) benign	1 lab	b6432dda06
15:99207919 IGF1R CAA>C	15	99207919	99207937	CAA	C	IGF1R	c.94+15032_94+15033del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99207936_99207937del	(Likely) benign	1 lab	b64352924e
X:23953305 CXorf58 C>G	X	23953305	23953305	C	G	CXorf58	c.556-8C>G	NM_152761.3	NP_689974.2:p.?	NC_000023.10:g.23953305C>G	VUS	1 lab	b643fea0eb
3:123044203 ADCY5 C>T	3	123044203	123044203	C	T	ADCY5	c.2054G>A	NM_183357.3	NP_899200.1:p.(Gly685Asp)	NC_000003.11:g.123044203C>T	VUS	1 lab	b6461bda62
4:88534140 DSPP G>T	4	88534140	88534140	G	T	DSPP	c.802G>T	NM_014208.3	NP_055023.2:p.(Gly268Trp)	NC_000004.11:g.88534140G>T	(Likely) benign	1 lab	b646bea003
15:89401159 ACAN C>CA	15	89401159	89401160	C	CA	ACAN	c.5344dup	NM_001369268.1	NP_001356197.1:p.(Ile1782AsnfsTer3)	NC_000015.9:g.89401160dup	(Likely) pathogenic	1 lab	b646e5bcd0
19:48994673 LMTK3 C>T	19	48994673	48994673	C	T	LMTK3	c.4216G>A	NM_001388485.1	NP_001375414.1:p.(Asp1406Asn)	NC_000019.9:g.48994673C>T	VUS	1 lab	b648d5a101
20:60639791 TAF4 TGCGCCGCCGGGG>T	20	60639791	60639811	TGCGCCGCCGGGG	T	TAF4	c.1064_1075del	NM_003185.4	NP_003176.2:p.(Pro355_Ala358del)	NC_000020.10:g.60639800_60639811del	(Likely) benign	1 lab	b649600193
12:122967886 ZCCHC8 T>C	12	122967886	122967886	T	C	ZCCHC8	c.611A>G	NM_017612.5	NP_060082.2:p.(His204Arg)	NC_000012.11:g.122967886T>C	VUS	1 lab	b64a3704a2
8:145170698 WDR97 C>T	8	145170698	145170698	C	T	WDR97	c.4532C>T	NM_001316309.2	NP_001303238.1:p.(Pro1511Leu)	NC_000008.10:g.145170698C>T	(Likely) benign	1 lab	b64a3e8662
4:190878660 FRG1 A>G	4	190878660	190878660	A	G	FRG1	c.537+3A>G	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190878660A>G	(Likely) benign	1 lab	b64d365953
11:45955613 PHF21A G>A	11	45955613	45955613	G	A	PHF21A	c.1952C>T	NM_001352027.3	NP_001338956.1:p.(Thr651Ile)	NC_000011.9:g.45955613G>A	(Likely) benign	1 lab	b64d699183
16:79633231 MAF C>T	16	79633231	79633231	C	T	MAF	c.569G>A	NM_005360.5	NP_005351.2:p.(Gly190Asp)	NC_000016.9:g.79633231C>T	(Likely) benign	1 lab	b6506c78e5
19:54403680 PRKCG G>A	19	54403680	54403680	G	A	PRKCG	c.1381G>A	NM_002739.5	NP_002730.1:p.(Ala461Thr)	NC_000019.9:g.54403680G>A	(Likely) pathogenic	1 lab	b653803776
2:179427850 TTN A>G	2	179427850	179427850	A	G	TTN	c.83009T>C	NM_001267550.2	NP_001254479.2:p.(Ile27670Thr)	NC_000002.11:g.179427850A>G	(Likely) benign	1 lab	b6548a46e5
2:48059911 FBXO11 T>C	2	48059911	48059911	T	C	FBXO11	c.1150A>G	NM_001190274.2	NP_001177203.1:p.(Thr384Ala)	NC_000002.11:g.48059911T>C	VUS	1 lab	b656b9a439
10:124335958 DMBT1 C>T	10	124335958	124335958	C	T	DMBT1	c.327C>T	NM_001377530.1	NP_001364459.1:p.(Gly109=)	NC_000010.10:g.124335958C>T	(Likely) benign	1 lab	b65778ed36
9:35801150 NPR2 C>T	9	35801150	35801150	C	T	NPR2	c.1435C>T	NM_003995.4	NP_003986.2:p.(Arg479Ter)	NC_000009.11:g.35801150C>T	(Likely) pathogenic	1 lab	b658768f94
9:126137548 CRB2 A>C	9	126137548	126137548	A	C	CRB2	c.3559A>C	NM_173689.7	NP_775960.4:p.(Thr1187Pro)	NC_000009.11:g.126137548A>C	VUS	1 lab	b658e8b29f
17:65908199 BPTF A>G	17	65908199	65908199	A	G	BPTF	c.4199A>G	NM_182641.4	NP_872579.2:p.(Gln1400Arg)	NC_000017.10:g.65908199A>G	(Likely) benign	1 lab	b659b7750d
3:196214346 RNF168 G>A	3	196214346	196214346	G	A	RNF168	c.482C>T	NM_152617.4	NP_689830.2:p.(Ala161Val)	NC_000003.11:g.196214346G>A	(Likely) benign	1 lab	b65a5a3029
2:230662432 TRIP12 C>T	2	230662432	230662432	C	T	TRIP12	c.3598G>A	NM_001348323.3	NP_001335252.1:p.(Ala1200Thr)	NC_000002.11:g.230662432C>T	(Likely) benign	1 lab	b65a802094
2:15307278 NBAS G>A	2	15307278	15307278	G	A	NBAS	c.7010C>T	NM_015909.4	NP_056993.2:p.(Ala2337Val)	NC_000002.11:g.15307278G>A	VUS	1 lab	293f771689
11:71169523 NADSYN1 T>A	11	71169523	71169523	T	A	NADSYN1	c.196T>A	NM_018161.5	NP_060631.2:p.(Ser66Thr)	NC_000011.9:g.71169523T>A	VUS	1 lab	b65bfb3164
X:135825852 ARHGEF6 C>T	X	135825852	135825852	C	T	ARHGEF6	c.553G>A	NM_004840.3	NP_004831.1:p.(Asp185Asn)	NC_000023.10:g.135825852C>T	VUS	1 lab	b65ecf1a51
17:41258456 BRCA1 A>G	17	41258456	41258456	A	G	BRCA1	c.212+17T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258456A>G	(Likely) benign	1 lab	b66b4388e3
17:56296567 MKS1 C>G	17	56296567	56296567	C	G	MKS1	c.25G>C	NM_017777.4	NP_060247.2:p.(Asp9His)	NC_000017.10:g.56296567C>G	VUS	1 lab	b66ced40e7
9:139726169 RABL6 C>T	9	139726169	139726169	C	T	RABL6	c.459-4C>T	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139726169C>T	VUS	1 lab	b665c0aaa7
2:105473112 POU3F3 AAGTGGCTGG>A	2	105473112	105473123	AAGTGGCTGG	A	POU3F3	c.1147_1155del	NM_006236.3	NP_006227.1:p.(Trp383_Glu385del)	NC_000002.11:g.105473115_105473123del	(Likely) pathogenic	1 lab	294012812f
11:71942239 INPPL1 G>A	11	71942239	71942239	G	A	INPPL1	c.1497+6G>A	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71942239G>A	(Likely) benign	1 lab	b665c7d930
1:203766895 ZC3H11A C>T	1	203766895	203766895	C	T	ZC3H11A	c.-1588+1973C>T	NM_001376342.1	NP_001363271.1:p.?	NC_000001.10:g.203766895C>T	VUS	1 lab	b6663c6837
14:23826539 EFS C>T	14	23826539	23826539	C	T	EFS	c.1582G>A	NM_005864.4	NP_005855.1:p.(Gly528Ser)	NC_000014.8:g.23826539C>T	(Likely) benign	1 lab	b666f58120
7:12269432 TMEM106B T>C	7	12269432	12269432	T	C	TMEM106B	c.569T>C	NM_001134232.2	NP_001127704.1:p.(Leu190Pro)	NC_000007.13:g.12269432T>C	VUS	1 lab	b666f731e8
1:145439886 TXNIP A>G	1	145439886	145439886	A	G	TXNIP	c.432A>G	NM_006472.6	NP_006463.3:p.(Glu144=)	NC_000001.10:g.145439886A>G	VUS	1 lab	b669acbef9
4:88967909 PKD2 ATCTTTTGTTTCT>A	4	88967909	88967922	ATCTTTTGTTTCT	A	PKD2	c.1437_1448del	NM_000297.4	NP_000288.1:p.(Phe480_Phe483del)	NC_000004.11:g.88967911_88967922del	(Likely) pathogenic	1 lab	b66a137f8a
16:89372939 ANKRD11 G>A	16	89372939	89372939	G	A	ANKRD11	c.88-1187C>T	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89372939G>A	(Likely) benign	1 lab	b66a796a1f
6:117241502 RFX6 T>A	6	117241502	117241502	T	A	RFX6	c.1212T>A	NM_173560.4	NP_775831.2:p.(His404Gln)	NC_000006.11:g.117241502T>A	(Likely) benign	1 lab	b66a802715
11:118526583 PHLDB1 G>A	11	118526583	118526583	G	A	PHLDB1	c.3974G>A	NM_001144758.3	NP_001138230.1:p.(Arg1325His)	NC_000011.9:g.118526583G>A	(Likely) benign	1 lab	b66ab489aa
X:133022248 GPC3 GC>G	X	133022248	133022249	GC	G	GPC3	c.337+64828del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.133022249del	VUS	1 lab	b66bcc4d23
2:143718187 KYNU A>G	2	143718187	143718187	A	G	KYNU	c.583-6A>G	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143718187A>G	(Likely) benign	1 lab	b66da60449
9:136221670 SURF1 G>A	9	136221670	136221670	G	A	SURF1	c.240+9C>T	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136221670G>A	(Likely) benign	1 lab	b66e5b2fab
15:42166201 SPTBN5 G>A	15	42166201	42166201	G	A	SPTBN5	c.4732C>T	NM_016642.4	NP_057726.4:p.(Arg1578Trp)	NC_000015.9:g.42166201G>A	VUS	1 lab	b66f6d2973
1:202702705 KDM5B G>A	1	202702705	202702705	G	A	KDM5B	c.3733C>T	NM_006618.5	NP_006609.3:p.(Arg1245Cys)	NC_000001.10:g.202702705G>A	VUS	1 lab	b670177bae
21:47407425 COL6A1 G>A	21	47407425	47407425	G	A	COL6A1	c.751G>A	NM_001848.3	NP_001839.2:p.(Glu251Lys)	NC_000021.8:g.47407425G>A	VUS	1 lab	b671b257f2
7:42187883 GLI3 C>A	7	42187883	42187883	C	A	GLI3	c.309G>T	NM_000168.6	NP_000159.3:p.(Pro103=)	NC_000007.13:g.42187883C>A	(Likely) benign	1 lab	b6724594f8
2:113418056 SLC20A1 A>G	2	113418056	113418056	A	G	SLC20A1	c.1700A>G	NM_005415.5	NP_005406.3:p.(Tyr567Cys)	NC_000002.11:g.113418056A>G	VUS	1 lab	b673e91306
4:6303680 WFS1 A>G	4	6303680	6303680	A	G	WFS1	c.2158A>G	NM_006005.3	NP_005996.2:p.(Ile720Val)	NC_000004.11:g.6303680A>G	(Likely) benign	1 lab	b675533c38
11:70033902 ANO1 A>T	11	70033902	70033902	A	T	ANO1	c.2753A>T	NM_018043.7	NP_060513.5:p.(Asp918Val)	NC_000011.9:g.70033902A>T	VUS	1 lab	b676c9f1e9
11:64521772 PYGM C>T	11	64521772	64521772	C	T	PYGM	c.1045G>A	NM_005609.4	NP_005600.1:p.(Glu349Lys)	NC_000011.9:g.64521772C>T	VUS	1 lab	b676f5d0ed
19:18272094 PIK3R2 G>A	19	18272094	18272094	G	A	PIK3R2	c.604G>A	NM_005027.4	NP_005018.2:p.(Ala202Thr)	NC_000019.9:g.18272094G>A	(Likely) benign	1 lab	b67a242e60
17:7793916 CHD3 C>T	17	7793916	7793916	C	T	CHD3	c.241C>T	NM_001005273.3	NP_001005273.1:p.(Arg81Ter)	NC_000017.10:g.7793916C>T	(Likely) benign	1 lab	b67b619dc9
20:61468456 COL9A3 C>T	20	61468456	61468456	C	T	COL9A3	c.1625C>T	NM_001853.4	NP_001844.3:p.(Ala542Val)	NC_000020.10:g.61468456C>T	VUS	1 lab	b67b68e95b
19:39996089 DLL3 A>G	19	39996089	39996089	A	G	DLL3	c.1091A>G	NM_203486.3	NP_982353.1:p.(Asn364Ser)	NC_000019.9:g.39996089A>G	VUS	1 lab	b67ead1e3f
2:26672860 DRC1 C>G	2	26672860	26672860	C	G	DRC1	c.1510-4C>G	NM_145038.5	NP_659475.2:p.?	NC_000002.11:g.26672860C>G	VUS	1 lab	b67efd1f04
2:73613086 ALMS1 A>AGCGGCG	2	73613086	73613101	A	AGCGGCG	ALMS1	c.100_105dup	NM_001378454.1	NP_001365383.1:p.(Ala34_Ala35dup)	NC_000002.11:g.73613096_73613101dup	(Likely) benign	1 lab	b67f96ed31
7:4277393 SDK1 A>G	7	4277393	4277393	A	G	SDK1	c.6107A>G	NM_152744.4	NP_689957.3:p.(Lys2036Arg)	NC_000007.13:g.4277393A>G	(Likely) benign	1 lab	b68120d6f0
9:12702334 TYRP1 G>A	9	12702334	12702334	G	A	TYRP1	c.977G>A	NM_000550.3	NP_000541.1:p.(Arg326His)	NC_000009.11:g.12702334G>A	VUS	1 lab	b68188eb07
11:17449918 ABCC8 C>T	11	17449918	17449918	C	T	ABCC8	c.1958G>A	NM_000352.6	NP_000343.2:p.(Arg653Gln)	NC_000011.9:g.17449918C>T	VUS	1 lab	b682d81cbe
13:32968932 BRCA2 T>C	13	32968932	32968932	T	C	BRCA2	c.9363T>C	NM_000059.3	NP_000050.2:p.(Ala3121=)	NC_000013.10:g.32968932T>C	(Likely) benign	1 lab	2b12ee7cd3
16:89350874 ANKRD11 G>A	16	89350874	89350874	G	A	ANKRD11	c.2076C>T	NM_013275.6	NP_037407.4:p.(Asp692=)	NC_000016.9:g.89350874G>A	(Likely) benign	1 lab	b686d1022e
19:39208597 ACTN4 C>G	19	39208597	39208597	C	G	ACTN4	c.1174C>G	NM_004924.6	NP_004915.2:p.(Gln392Glu)	NC_000019.9:g.39208597C>G	(Likely) benign	1 lab	2b187ec627
5:149754706 TCOF1 G>A	5	149754706	149754706	G	A	TCOF1	c.1468G>A	NM_001371623.1	NP_001358552.1:p.(Ala490Thr)	NC_000005.9:g.149754706G>A	VUS	1 lab	b687c7355f
4:6303703 WFS1 C>T	4	6303703	6303703	C	T	WFS1	c.2181C>T	NM_006005.3	NP_005996.2:p.(Ile727=)	NC_000004.11:g.6303703C>T	(Likely) benign	1 lab	b6885ebe68
17:36070660 HNF1B T>C	17	36070660	36070660	T	C	HNF1B	c.1057A>G	NM_000458.4	NP_000449.1:p.(Ser353Gly)	NC_000017.10:g.36070660T>C	VUS	1 lab	b68b780122
4:10447194 ZNF518B T>G	4	10447194	10447194	T	G	ZNF518B	c.759A>C	NM_053042.3	NP_444270.2:p.(Gln253His)	NC_000004.11:g.10447194T>G	(Likely) benign	1 lab	b68c93c45c
19:4818121 TICAM1 G>T	19	4818121	4818121	G	T	TICAM1	c.269C>A	NM_182919.4	NP_891549.1:p.(Pro90Gln)	NC_000019.9:g.4818121G>T	VUS	1 lab	b6ab68e55c
1:144879339 PDE4DIP C>T	1	144879339	144879339	C	T	PDE4DIP	c.4309G>A	NM_001395426.1	NP_001382355.1:p.(Val1437Ile)	NC_000001.10:g.144879339C>T	(Likely) benign	1 lab	b68ca0d890
19:11311580 DOCK6 C>A	19	11311580	11311580	C	A	DOCK6	c.5832+5G>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11311580C>A	VUS	1 lab	b68d805e7f
12:106757690 POLR3B T>A	12	106757690	106757690	T	A	POLR3B	c.105+10T>A	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106757690T>A	(Likely) benign	1 lab	b698878646
17:20107976 SPECC1 C>A	17	20107976	20107976	C	A	SPECC1	c.614C>A	NM_001243439.2	NP_001230368.1:p.(Thr205Asn)	NC_000017.10:g.20107976C>A	(Likely) benign	1 lab	b68ea31c8f
4:108948914 HADH G>A	4	108948914	108948914	G	A	HADH	c.707G>A	NM_005327.7	NP_005318.6:p.(Arg236Gln)	NC_000004.11:g.108948914G>A	VUS	1 lab	b68eec5342
11:122955245 CLMP C>T	11	122955245	122955245	C	T	CLMP	c.363G>A	NM_024769.5	NP_079045.1:p.(Trp121Ter)	NC_000011.9:g.122955245C>T	VUS	1 lab	b690a32c0d
19:39998029 DLL3 G>C	19	39998029	39998029	G	C	DLL3	c.1444G>C	NM_203486.3	NP_982353.1:p.(Gly482Arg)	NC_000019.9:g.39998029G>C	VUS	1 lab	b690b66844
19:12985674 MAST1 C>T	19	12985674	12985674	C	T	MAST1	c.4703C>T	NM_014975.3	NP_055790.1:p.(Pro1568Leu)	NC_000019.9:g.12985674C>T	(Likely) benign	1 lab	b69107e3ff
11:280403 NLRP6 G>C	11	280403	280403	G	C	NLRP6	c.669G>C	NM_001276700.2	NP_001263629.1:p.(Lys223Asn)	NC_000011.9:g.280403G>C	(Likely) benign	1 lab	b69bc65ef9
8:41790883 KAT6A TCATGCTGCAGCTGCTGCC>T	8	41790883	41790908	TCATGCTGCAGCTGCTGCC	T	KAT6A	c.4837_4854del	NM_006766.5	NP_006757.2:p.(Gly1613_Met1618del)	NC_000008.10:g.41790891_41790908del	VUS	1 lab	b692a14e08
4:73185672 ADAMTS3 G>A	4	73185672	73185672	G	A	ADAMTS3	c.1111C>T	NM_014243.3	NP_055058.2:p.(Pro371Ser)	NC_000004.11:g.73185672G>A	VUS	1 lab	b692f467a1
1:202574866 SYT2 A>G	1	202574866	202574866	A	G	SYT2	c.35T>C	NM_177402.5	NP_796376.2:p.(Ile12Thr)	NC_000001.10:g.202574866A>G	(Likely) benign	1 lab	b694ee70df
5:60628181 ZSWIM6 A>AGCG	5	60628181	60628199	A	AGCG	ZSWIM6	c.98_100dup	NM_020928.2	NP_065979.1:p.(Gly33dup)	NC_000005.9:g.60628197_60628199dup	(Likely) benign	1 lab	b69504693e
3:123512570 MYLK C>T	3	123512570	123512570	C	T	MYLK	c.119G>A	NM_053025.4	NP_444253.3:p.(Arg40Gln)	NC_000003.11:g.123512570C>T	VUS	1 lab	b6955c55f1
9:35092764 PIGO C>G	9	35092764	35092764	C	G	PIGO	c.1120G>C	NM_032634.4	NP_116023.2:p.(Val374Leu)	NC_000009.11:g.35092764C>G	VUS	1 lab	b6c8f2dd82
14:103416850 CDC42BPB C>T	14	103416850	103416850	C	T	CDC42BPB	c.3262G>A	NM_006035.4	NP_006026.3:p.(Val1088Met)	NC_000014.8:g.103416850C>T	VUS	1 lab	29424cd86c
12:120214606 CIT T>G	12	120214606	120214606	T	G	CIT	c.1706A>C	NM_001206999.2	NP_001193928.1:p.(Asn569Thr)	NC_000012.11:g.120214606T>G	(Likely) benign	1 lab	b696a67175
22:51117861 SHANK3 G>GCATTTAAAGGAAATAATGTATAC	22	51117861	51117862	G	GCATTTAAAGGAAATAATGTATAC	SHANK3	c.1110+5_1110+6insCATTTAAAGGAAATAATGTATAC	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117861_51117862insCATTTAAAGGAAATAATGTATAC	VUS	1 lab	b697473a94
11:2186605 TH G>A	11	2186605	2186605	G	A	TH	c.1201-10C>T	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2186605G>A	(Likely) benign	1 lab	b698223bb0
9:20414373 MLLT3 GCTA>G	9	20414373	20414378	GCTA	G	MLLT3	c.468_470del	NM_004529.4	NP_004520.2:p.(Ser190del)	NC_000009.11:g.20414376_20414378del	VUS	1 lab	b6990a6504
17:26898171 PIGS CGAA>C	17	26898171	26898179	CGAA	C	PIGS	c.67_69del	NM_033198.4	NP_149975.1:p.(Phe23del)	NC_000017.10:g.26898177_26898179del	VUS	1 lab	b699105d43
X:149098260 HSFX4 A>G	X	149098260	149098260	A	G	HSFX4	c.398A>G	NM_001351114.2	NP_001338043.1:p.(Asn133Ser)	NC_000023.10:g.149098260A>G	(Likely) benign	1 lab	b699646b17
9:135946888 CEL GC>G	9	135946888	135946896	GC	G	CEL	c.2007del	NM_001807.6	NP_001798.3:p.(Val670CysfsTer34)	NC_000009.11:g.135946896del	(Likely) benign	1 lab	b69a9ff6ad
21:47419858 COL6A1 CGT>C	21	47419858	47419863	CGT	C	COL6A1	c.1776+256_1776+257del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47419862_47419863del	(Likely) benign	1 lab	b69b5368b8
18:42530807 SETBP1 C>T	18	42530807	42530807	C	T	SETBP1	c.1502C>T	NM_015559.3	NP_056374.2:p.(Pro501Leu)	NC_000018.9:g.42530807C>T	VUS	1 lab	b69bd82b95
19:42753378 ERF C>T	19	42753378	42753378	C	T	ERF	c.886G>A	NM_006494.4	NP_006485.2:p.(Gly296Ser)	NC_000019.9:g.42753378C>T	(Likely) benign	1 lab	b69d9a8cf3
11:6662823 DCHS1 C>G	11	6662823	6662823	C	G	DCHS1	c.22G>C	NM_003737.4	NP_003728.1:p.(Val8Leu)	NC_000011.9:g.6662823C>G	(Likely) benign	1 lab	b69eb23926
11:45946151 LARGE2 G>A	11	45946151	45946151	G	A	LARGE2	c.587G>A	NM_001300721.2	NP_001287650.1:p.(Arg196His)	NC_000011.9:g.45946151G>A	(Likely) benign	1 lab	b69efeb417
12:113328677 RPH3A C>T	12	113328677	113328677	C	T	RPH3A	c.1644C>T	NM_001143854.2	NP_001137326.1:p.(Ile548=)	NC_000012.11:g.113328677C>T	(Likely) benign	1 lab	b69f34f923
2:128186141 PROC G>C	2	128186141	128186141	G	C	PROC	c.1005G>C	NM_000312.4	NP_000303.1:p.(Gln335His)	NC_000002.11:g.128186141G>C	VUS	1 lab	b69f9d69bd
3:195997318 PCYT1A C>T	3	195997318	195997318	C	T	PCYT1A	c.85G>A	NM_001312673.2	NP_001299602.1:p.(Gly29Arg)	NC_000003.11:g.195997318C>T	VUS	1 lab	b6a0f9be1d
10:20106125 PLXDC2 G>GA	10	20106125	20106126	G	GA	PLXDC2	c.112+5_112+6insA	NM_032812.9	NP_116201.7:p.?	NC_000010.10:g.20106125_20106126insA	(Likely) benign	1 lab	b6a1bb6594
19:39214721 ACTN4 C>T	19	39214721	39214721	C	T	ACTN4	c.1692+4C>T	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39214721C>T	VUS	1 lab	b6a32d442c
6:51774198 PKHD1 C>T	6	51774198	51774198	C	T	PKHD1	c.6565G>A	NM_138694.4	NP_619639.3:p.(Val2189Ile)	NC_000006.11:g.51774198C>T	(Likely) benign	1 lab	b6a5a187e9
14:24567498 PCK2 A>C	14	24567498	24567498	A	C	PCK2	c.362=	NM_004563.4	NP_004554.3:p.(Pro121=)	NC_000014.8:g.24567498A>C	(Likely) benign	1 lab	2943de8be9
12:6559487 CD27 C>A	12	6559487	6559487	C	A	CD27	c.417C>A	NM_001242.4	NP_001233.1:p.(His139Gln)	NC_000012.11:g.6559487C>A	(Likely) benign	1 lab	2b1c8b142d
9:134397547 POMT1 G>A	9	134397547	134397547	G	A	POMT1	c.1939G>A	NM_001077365.2	NP_001070833.1:p.(Ala647Thr)	NC_000009.11:g.134397547G>A	(Likely) pathogenic	1 lab	b6a91d6589
6:79656510 PHIP G>A	6	79656510	79656510	G	A	PHIP	c.4288C>T	NM_017934.7	NP_060404.4:p.(Arg1430Cys)	NC_000006.11:g.79656510G>A	VUS	1 lab	b6aa780b68
12:21791410 LDHB TAA>T	12	21791410	21791425	TAA	T	LDHB	c.596-8_596-7del	NM_002300.8	NP_002291.1:p.?	NC_000012.11:g.21791424_21791425del	VUS	1 lab	b6aabebc2a
9:133306837 HMCN2 G>A	9	133306837	133306837	G	A	HMCN2	c.14731G>A	NM_001291815.2	NP_001278744.1:p.(Gly4911Ser)	NC_000009.11:g.133306837G>A	VUS	1 lab	b6ab55f397
7:299932 FAM20C G>A	7	299932	299932	G	A	FAM20C	c.1741G>A	NM_020223.4	NP_064608.2:p.(Ala581Thr)	NC_000007.13:g.299932G>A	(Likely) benign	1 lab	b6ac772d60
10:89504955 PAPSS2 C>T	10	89504955	89504955	C	T	PAPSS2	c.1688C>T	NM_001015880.2	NP_001015880.1:p.(Ala563Val)	NC_000010.10:g.89504955C>T	(Likely) benign	1 lab	b6ad1dfddf
5:228339 SDHA G>A	5	228339	228339	G	A	SDHA	c.661G>A	NM_004168.4	NP_004159.2:p.(Ala221Thr)	NC_000005.9:g.228339G>A	VUS	1 lab	b6aeadfce4
20:3209737 SLC4A11 A>C	20	3209737	3209737	A	C	SLC4A11	c.2018+4T>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3209737A>C	(Likely) benign	1 lab	b6aff2350a
1:111494021 LRIF1 G>A	1	111494021	111494021	G	A	LRIF1	c.1485C>T	NM_018372.4	NP_060842.3:p.(Val495=)	NC_000001.10:g.111494021G>A	(Likely) benign	1 lab	b6aff7a418
12:109690876 ACACB G>T	12	109690876	109690876	G	T	ACACB	c.5958G>T	NM_001093.4	NP_001084.3:p.(Met1986Ile)	NC_000012.11:g.109690876G>T	VUS	1 lab	b6b195d721
2:25466759 DNMT3A C>T	2	25466759	25466759	C	T	DNMT3A	c.1936+8G>A	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25466759C>T	(Likely) benign	1 lab	b6b22df745
19:50119297 PRR12 C>T	19	50119297	50119297	C	T	PRR12	c.5318C>T	NM_020719.3	NP_065770.1:p.(Thr1773Met)	NC_000019.9:g.50119297C>T	(Likely) benign	1 lab	29442ad061
5:140730259 PCDHGA1 AC>A	5	140730259	140730262	AC	A	PCDHGA1	c.2421+17590del	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140730262del	VUS	1 lab	b6b2518853
19:17767190 UNC13A C>G	19	17767190	17767190	C	G	UNC13A	c.785G>C	NM_001080421.3	NP_001073890.2:p.(Arg262Pro)	NC_000019.9:g.17767190C>G	VUS	1 lab	b6b363e1b7
5:176634594 NSD1 ATT>A	5	176634594	176634623	ATT	A	NSD1	c.1237-2015_1237-2014del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176634622_176634623del	(Likely) benign	1 lab	b6b4897d22
19:18899331 COMP A>G	19	18899331	18899331	A	G	COMP	c.763-8T>C	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899331A>G	(Likely) benign	1 lab	b6b4e98ede
19:12541537 ZNF443 T>A	19	12541537	12541537	T	A	ZNF443	c.1449A>T	NM_005815.5	NP_005806.3:p.(Lys483Asn)	NC_000019.9:g.12541537T>A	VUS	1 lab	b6b6aa0f11
11:77069989 PAK1 GCAT>G	11	77069989	77070008	GCAT	G	PAK1	c.548_550del	NM_002576.5	NP_002567.3:p.(Asp183del)	NC_000011.9:g.77070006_77070008del	(Likely) benign	1 lab	b6ba0d9149
16:1413016 GNPTG A>AC	16	1413016	1413017	A	AC	GNPTG	c.843dup	NM_032520.5	NP_115909.1:p.(His284ProfsTer15)	NC_000016.9:g.1413017dup	(Likely) benign	1 lab	b6bf3e70c5
17:65928126 BPTF G>C	17	65928126	65928126	G	C	BPTF	c.6250G>C	NM_182641.4	NP_872579.2:p.(Val2084Leu)	NC_000017.10:g.65928126G>C	VUS	1 lab	b6ce5ed884
12:56137184 GDF11 CGCGGCGGCG>C	12	56137184	56137216	CGCGGCGGCG	C	GDF11	c.108_116del	NM_005811.5	NP_005802.1:p.(Ala39_Ala41del)	NC_000012.11:g.56137208_56137216del	(Likely) benign	1 lab	b6bf7f2cd9
22:36681793 MYH9 C>A	22	36681793	36681793	C	A	MYH9	c.5185G>T	NM_002473.6	NP_002464.1:p.(Ala1729Ser)	NC_000022.10:g.36681793C>A	(Likely) benign	1 lab	b6bf8ef931
6:43405684 ABCC10 G>C	6	43405684	43405684	G	C	ABCC10	c.1888G>C	NM_001198934.2	NP_001185863.1:p.(Gly630Arg)	NC_000006.11:g.43405684G>C	VUS	1 lab	b6c0174360
X:48336872 FTSJ1 G>A	X	48336872	48336872	G	A	FTSJ1	c.157G>A	NM_012280.4	NP_036412.1:p.(Gly53Ser)	NC_000023.10:g.48336872G>A	(Likely) pathogenic	1 lab	b6c108e77f
12:20833068 PDE3A G>A	12	20833068	20833068	G	A	PDE3A	c.3289G>A	NM_000921.5	NP_000912.3:p.(Ala1097Thr)	NC_000012.11:g.20833068G>A	(Likely) benign	1 lab	b6c156de0b
12:116403927 MED13L G>A	12	116403927	116403927	G	A	MED13L	c.6347C>T	NM_015335.5	NP_056150.1:p.(Ser2116Leu)	NC_000012.11:g.116403927G>A	VUS	1 lab	b6c15b76f8
3:45588870 LARS2 C>A	3	45588870	45588870	C	A	LARS2	c.2560C>A	NM_015340.4	NP_056155.1:p.(Pro854Thr)	NC_000003.11:g.45588870C>A	VUS	1 lab	b6c1690678
1:63024805 DOCK7 C>T	1	63024805	63024805	C	T	DOCK7	c.2286G>A	NM_001367561.1	NP_001354490.1:p.(Met762Ile)	NC_000001.10:g.63024805C>T	VUS	1 lab	b6c26c75df
17:60059598 MED13 CA>C	17	60059598	60059600	CA	C	MED13	c.3765del	NM_005121.3	NP_005112.2:p.(Val1256Ter)	NC_000017.10:g.60059600del	VUS	1 lab	b6c2d84aaa
22:32111197 PRR14L C>G	22	32111197	32111197	C	G	PRR14L	c.2628G>C	NM_173566.3	NP_775837.2:p.(Met876Ile)	NC_000022.10:g.32111197C>G	VUS	1 lab	b6cb1651f6
2:15564443 NBAS C>T	2	15564443	15564443	C	T	NBAS	c.2573G>A	NM_015909.4	NP_056993.2:p.(Arg858Gln)	NC_000002.11:g.15564443C>T	VUS	1 lab	b6cc8b8793
4:77324435 CCDC158 T>C	4	77324435	77324435	T	C	CCDC158	c.-73-2A>G	NM_001394954.1	NP_001381883.1:p.?	NC_000004.11:g.77324435T>C	VUS	1 lab	b6ccdd0e2a
15:82934892 MISSING G>A	15	82934892	82934892	G	A	MISSING				NC_000015.9:g.82934892G>A	VUS	1 lab	b6ccde74a7
1:103544337 COL11A1 T>G	1	103544337	103544337	T	G	COL11A1	c.365A>C	NM_001854.4	NP_001845.3:p.(His122Pro)	NC_000001.10:g.103544337T>G	VUS	1 lab	b6cd67d93a
11:55110877 OR4A16 G>A	11	55110877	55110877	G	A	OR4A16	c.201G>A	NM_001005274.1	NP_001005274.1:p.(Met67Ile)	NC_000011.9:g.55110877G>A	(Likely) benign	1 lab	b6cee68cab
1:6647263 ZBTB48 A>G	1	6647263	6647263	A	G	ZBTB48	c.1138-2A>G	NM_005341.4	NP_005332.1:p.?	NC_000001.10:g.6647263A>G	VUS	1 lab	b6d02a6259
3:12858158 CAND2 C>T	3	12858158	12858158	C	T	CAND2	c.1727C>T	NM_001162499.2	NP_001155971.1:p.(Ala576Val)	NC_000003.11:g.12858158C>T	(Likely) benign	1 lab	b6d0574b37
2:191110928 HIBCH T>A	2	191110928	191110928	T	A	HIBCH	c.761A>T	NM_014362.4	NP_055177.2:p.(Asp254Val)	NC_000002.11:g.191110928T>A	VUS	1 lab	b6d18e4a1e
3:151072978 MED12L C>A	3	151072978	151072978	C	A	MED12L	c.2468C>A	NM_001393769.1	NP_001380698.1:p.(Thr823Asn)	NC_000003.11:g.151072978C>A	VUS	1 lab	b6d1fe8673
11:66204320 MRPL11 T>C	11	66204320	66204320	T	C	MRPL11	c.473+255A>G	NM_016050.5	NP_057134.1:p.?	NC_000011.9:g.66204320T>C	VUS	1 lab	b6d2636050
9:139889396 CLIC3 G>T	9	139889396	139889396	G	T	CLIC3	c.538C>A	NM_004669.3	NP_004660.2:p.(Leu180Met)	NC_000009.11:g.139889396G>T	VUS	1 lab	b6d3936d3e
21:37410542 SETD4 T>C	21	37410542	37410542	T	C	SETD4	c.1094A>G	NM_017438.5	NP_059134.1:p.(Glu365Gly)	NC_000021.8:g.37410542T>C	VUS	1 lab	b6d44e96ee
8:41790868 KAT6A C>T	8	41790868	41790868	C	T	KAT6A	c.4870G>A	NM_006766.5	NP_006757.2:p.(Val1624Ile)	NC_000008.10:g.41790868C>T	(Likely) benign	1 lab	b6d4763c86
7:152008913 KMT2C T>C	7	152008913	152008913	T	C	KMT2C	c.709A>G	NM_170606.3	NP_733751.2:p.(Ile237Val)	NC_000007.13:g.152008913T>C	(Likely) benign	1 lab	b6d538d1ff
15:72260322 MYO9A G>T	15	72260322	72260322	G	T	MYO9A	c.1986+3C>A	NM_006901.4	NP_008832.2:p.?	NC_000015.9:g.72260322G>T	(Likely) benign	1 lab	b6d69df67c
11:117302331 DSCAML1 C>T	11	117302331	117302331	C	T	DSCAML1	c.5293G>A	NM_020693.4	NP_065744.3:p.(Asp1765Asn)	NC_000011.9:g.117302331C>T	VUS	1 lab	b6d85af683
18:21114442 NPC1 C>T	18	21114442	21114442	C	T	NPC1	c.3559G>A	NM_000271.5	NP_000262.2:p.(Ala1187Thr)	NC_000018.9:g.21114442C>T	VUS	1 lab	b6d8d3c174
12:113737752 SLC8B1 C>T	12	113737752	113737752	C	T	SLC8B1	c.1585G>A	NM_001358345.2	NP_001345274.1:p.(Val529Ile)	NC_000012.11:g.113737752C>T	(Likely) benign	1 lab	b6d9a6e1ef
9:98211397 PTCH1 T>C	9	98211397	98211397	T	C	PTCH1	c.3758A>G	NM_000264.5	NP_000255.2:p.(Gln1253Arg)	NC_000009.11:g.98211397T>C	(Likely) benign	1 lab	b6dbff2678
1:19992292 HTR6 G>A	1	19992292	19992292	G	A	HTR6	c.46G>A	NM_000871.3	NP_000862.1:p.(Gly16Arg)	NC_000001.10:g.19992292G>A	(Likely) benign	1 lab	b6dca5fb3c
17:44243579 KANSL1 C>CA	17	44243579	44243594	C	CA	KANSL1	c.1289+4641dup	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44243594dup	(Likely) benign	1 lab	b6dd469866
7:151945228 KMT2C G>T	7	151945228	151945228	G	T	KMT2C	c.2291C>A	NM_170606.3	NP_733751.2:p.(Ser764Tyr)	NC_000007.13:g.151945228G>T	(Likely) benign	1 lab	b6dd492c25
X:67414325 OPHN1 T>C	X	67414325	67414325	T	C	OPHN1	c.1120A>G	NM_002547.3	NP_002538.1:p.(Ile374Val)	NC_000023.10:g.67414325T>C	VUS	1 lab	b6de481ddf
8:92088822 OTUD6B G>T	8	92088822	92088822	G	T	OTUD6B	c.316-1762G>T	NM_016023.5	NP_057107.4:p.?	NC_000008.10:g.92088822G>T	VUS	1 lab	b6dece6721
8:145663876 TONSL C>T	8	145663876	145663876	C	T	TONSL	c.1631G>A	NM_013432.5	NP_038460.4:p.(Arg544His)	NC_000008.10:g.145663876C>T	(Likely) benign	1 lab	b6df158b92
3:47891428 DHX30 G>A	3	47891428	47891428	G	A	DHX30	c.3403G>A	NM_138615.3	NP_619520.1:p.(Val1135Met)	NC_000003.11:g.47891428G>A	(Likely) benign	1 lab	b6e0717729
5:125891616 ALDH7A1 T>C	5	125891616	125891616	T	C	ALDH7A1	c.1093+7A>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125891616T>C	VUS	1 lab	b6e08895ec
6:56366370 DST A>G	6	56366370	56366370	A	G	DST	c.19688T>C	NM_001374736.1	NP_001361665.1:p.(Met6563Thr)	NC_000006.11:g.56366370A>G	(Likely) benign	1 lab	b6e163ab3b
4:3494680 DOK7 C>T	4	3494680	3494680	C	T	DOK7	c.967C>T	NM_173660.5	NP_775931.3:p.(Arg323Cys)	NC_000004.11:g.3494680C>T	(Likely) benign	1 lab	b6e1b30474
17:3438939 TRPV3 C>T	17	3438939	3438939	C	T	TRPV3	c.712G>A	NM_145068.4	NP_659505.1:p.(Gly238Ser)	NC_000017.10:g.3438939C>T	VUS	1 lab	b6e1cc2086
9:117068885 COL27A1 G>A	9	117068885	117068885	G	A	COL27A1	c.5024G>A	NM_032888.4	NP_116277.2:p.(Ser1675Asn)	NC_000009.11:g.117068885G>A	VUS	1 lab	b6e39fb961
22:36661566 APOL1 G>A	22	36661566	36661566	G	A	APOL1	c.732G>A	NM_145343.2	NP_663318.1:p.(Met244Ile)	NC_000022.10:g.36661566G>A	(Likely) benign	1 lab	294ee29537
17:59793393 BRIP1 T>C	17	59793393	59793393	T	C	BRIP1	c.2411A>G	NM_032043.3	NP_114432.2:p.(His804Arg)	NC_000017.10:g.59793393T>C	VUS	1 lab	b6e4c05c61
19:14038794 CC2D1A C>T	19	14038794	14038794	C	T	CC2D1A	c.2405C>T	NM_017721.5	NP_060191.3:p.(Thr802Met)	NC_000019.9:g.14038794C>T	(Likely) benign	1 lab	b6e58e44fc
9:135936678 CEL A>G	9	135936678	135936678	A	G	CEL				NC_000009.11:g.135936678A>G	(Likely) benign	1 lab	b6e5baf62e
X:8763253 FAM9A TCTC>T	X	8763253	8763270	TCTC	T	FAM9A	c.694_696del	NM_174951.3	NP_777611.1:p.(Glu232del)	NC_000023.10:g.8763268_8763270del	VUS	1 lab	b6e8df38d6
13:95055404 GPC6 G>A	13	95055404	95055404	G	A	GPC6	c.1601G>A	NM_005708.5	NP_005699.1:p.(Arg534His)	NC_000013.10:g.95055404G>A	(Likely) benign	1 lab	b6e9d65f02
1:84647350 PRKACB T>G	1	84647350	84647350	T	G	PRKACB	c.250-533T>G	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647350T>G	(Likely) benign	1 lab	b6ea8a4da0
16:3304779 MEFV G>A	16	3304779	3304779	G	A	MEFV	c.289C>T	NM_000243.2	NP_000234.1:p.(Gln97Ter)	NC_000016.9:g.3304779G>A	(Likely) pathogenic	1 lab	2b1ef9d58b
8:99153059 POP1 C>T	8	99153059	99153059	C	T	POP1	c.1537C>T	NM_001145860.2	NP_001139332.1:p.(Arg513Ter)	NC_000008.10:g.99153059C>T	(Likely) pathogenic	1 lab	b6eb5e8d11
7:299896 FAM20C G>A	7	299896	299896	G	A	FAM20C	c.1705G>A	NM_020223.4	NP_064608.2:p.(Val569Met)	NC_000007.13:g.299896G>A	VUS	1 lab	b6ebb5d440
1:67724382 IL23R A>C	1	67724382	67724382	A	C	IL23R	c.1461A>C	NM_144701.3	NP_653302.2:p.(Gln487His)	NC_000001.10:g.67724382A>C	VUS	1 lab	b6ed5b5a79
16:72822563 ZFHX3 T>TTGC	16	72822563	72822586	T	TTGC	ZFHX3	c.9609_9611dup	NM_006885.4	NP_008816.3:p.(Gln3204dup)	NC_000016.9:g.72822584_72822586dup	VUS	1 lab	b6ed9f198c
3:3188173 TRNT1 T>C	3	3188173	3188173	T	C	TRNT1	c.668T>C	NM_182916.3	NP_886552.3:p.(Ile223Thr)	NC_000003.11:g.3188173T>C	(Likely) pathogenic	1 lab	b6f0166bf8
9:101552584 ANKS6 G>A	9	101552584	101552584	G	A	ANKS6	c.664C>T	NM_173551.5	NP_775822.3:p.(Arg222Trp)	NC_000009.11:g.101552584G>A	(Likely) benign	1 lab	2b1f0cb5bd
16:88803999 PIEZO1 A>G	16	88803999	88803999	A	G	PIEZO1	c.1163T>C	NM_001142864.4	NP_001136336.2:p.(Leu388Pro)	NC_000016.9:g.88803999A>G	VUS	1 lab	b6f17e3bc3
10:75576609 CAMK2G G>A	10	75576609	75576609	G	A	CAMK2G	c.1534+172C>T	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75576609G>A	(Likely) benign	1 lab	b6f198843a
11:76916586 MYO7A G>A	11	76916586	76916586	G	A	MYO7A	c.5560G>A	NM_000260.4	NP_000251.3:p.(Val1854Met)	NC_000011.9:g.76916586G>A	VUS	1 lab	b6f2477feb
4:2831526 SH3BP2 G>A	4	2831526	2831526	G	A	SH3BP2	c.893G>A	NM_001122681.2	NP_001116153.1:p.(Arg298Gln)	NC_000004.11:g.2831526G>A	VUS	1 lab	b6f2a826cc
1:27094401 ARID1A G>C	1	27094401	27094401	G	C	ARID1A	c.3109G>C	NM_006015.6	NP_006006.3:p.(Gly1037Arg)	NC_000001.10:g.27094401G>C	VUS	1 lab	b6f3666688
1:230379073 GALNT2 G>A	1	230379073	230379073	G	A	GALNT2	c.629G>A	NM_004481.5	NP_004472.1:p.(Arg210Gln)	NC_000001.10:g.230379073G>A	VUS	1 lab	b6f373a551
3:48603735 COL7A1 CG>C	3	48603735	48603737	CG	C	COL7A1	c.8371del	NM_000094.4	NP_000085.1:p.(Arg2791GlyfsTer8)	NC_000003.11:g.48603737del	(Likely) pathogenic	1 lab	2951b365da
11:31823158 PAX6 C>G	11	31823158	31823158	C	G	PAX6	c.350G>C	NM_001368894.2	NP_001355823.1:p.(Arg117Pro)	NC_000011.9:g.31823158C>G	VUS	1 lab	b6f63aebd4
16:5121858 ALG1 C>A	16	5121858	5121858	C	A	ALG1	c.8C>A	NM_019109.5	NP_061982.3:p.(Ala3Asp)	NC_000016.9:g.5121858C>A	(Likely) benign	1 lab	b6f64dc89c
13:52548257 ATP7B C>T	13	52548257	52548257	C	T	ATP7B	c.1099G>A	NM_000053.4	NP_000044.2:p.(Gly367Ser)	NC_000013.10:g.52548257C>T	VUS	1 lab	b6f6d481e9
13:23894757 SGCG C>CTTTTTTTTTT	13	23894757	23894760	C	CTTTTTTTTTT	SGCG	c.579-17_579-16insTTTTTTTTTT	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894759_23894760insTTTTTTTTTT	(Likely) benign	1 lab	b6f7909dbb
22:42611238 TCF20 G>A	22	42611238	42611238	G	A	TCF20	c.74C>T	NM_001378418.1	NP_001365347.1:p.(Ser25Phe)	NC_000022.10:g.42611238G>A	VUS	1 lab	b6f8dc9f2b
6:112537568 LAMA4 C>A	6	112537568	112537568	C	A	LAMA4	c.297+1G>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112537568C>A	(Likely) benign	1 lab	b6f934996f
17:44949945 WNT9B A>G	17	44949945	44949945	A	G	WNT9B	c.140A>G	NM_003396.3	NP_003387.1:p.(Gln47Arg)	NC_000017.10:g.44949945A>G	(Likely) benign	1 lab	b6f9a64cdf
17:78319682 RNF213 C>T	17	78319682	78319682	C	T	RNF213	c.7547C>T	NM_001256071.3	NP_001243000.2:p.(Ser2516Phe)	NC_000017.10:g.78319682C>T	VUS	1 lab	b6f9c51b9d
2:110927433 NPHP1 T>C	2	110927433	110927433	T	C	NPHP1	c.472A>G	NM_000272.4	NP_000263.2:p.(Ile158Val)	NC_000002.11:g.110927433T>C	(Likely) benign	1 lab	2b1fcc028e
12:50479241 SMARCD1 C>T	12	50479241	50479241	C	T	SMARCD1	c.89C>T	NM_003076.5	NP_003067.3:p.(Pro30Leu)	NC_000012.11:g.50479241C>T	(Likely) benign	1 lab	b6fe4948ba
11:76751047 B3GNT6 T>C	11	76751047	76751047	T	C	B3GNT6	c.452T>C	NM_138706.5	NP_619651.3:p.(Val151Ala)	NC_000011.9:g.76751047T>C	VUS	1 lab	b6fe7ca06c
1:155207245 GBA1 G>A	1	155207245	155207245	G	A	GBA1	c.886C>T	NM_000157.4	NP_000148.2:p.(Arg296Ter)	NC_000001.10:g.155207245G>A	(Likely) pathogenic	1 lab	b7009f60ad
1:200635084 DDX59 A>G	1	200635084	200635084	A	G	DDX59	c.785T>C	NM_001031725.6	NP_001026895.2:p.(Ile262Thr)	NC_000001.10:g.200635084A>G	VUS	1 lab	b7015caa7c
13:113532621 ATP11A A>T	13	113532621	113532621	A	T	ATP11A	c.*9+4A>T	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113532621A>T	VUS	1 lab	b701d11e10
14:105420661 AHNAK2 C>T	14	105420661	105420661	C	T	AHNAK2	c.1127G>A	NM_138420.4	NP_612429.2:p.(Arg376Lys)	NC_000014.8:g.105420661C>T	VUS	1 lab	b7039bb44a
4:79385733 FRAS1 C>T	4	79385733	79385733	C	T	FRAS1	c.7025C>T	NM_025074.7	NP_079350.5:p.(Thr2342Ile)	NC_000004.11:g.79385733C>T	VUS	1 lab	b704dbb866
10:97413046 ALDH18A1 C>T	10	97413046	97413046	C	T	ALDH18A1	c.88+1G>A	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97413046C>T	(Likely) pathogenic	1 lab	b704fc57fd
16:75263537 BCAR1 T>C	16	75263537	75263537	T	C	BCAR1	c.2485A>G	NM_014567.5	NP_055382.2:p.(Thr829Ala)	NC_000016.9:g.75263537T>C	VUS	1 lab	b7053a3622
1:111216792 KCNA3 G>A	1	111216792	111216792	G	A	KCNA3	c.640C>T	NM_002232.5	NP_002223.3:p.(Arg214Cys)	NC_000001.10:g.111216792G>A	(Likely) benign	1 lab	b70579a03a
8:61654473 CHD7 A>G	8	61654473	61654473	A	G	CHD7	c.482A>G	NM_017780.4	NP_060250.2:p.(Gln161Arg)	NC_000008.10:g.61654473A>G	(Likely) benign	1 lab	b70795b797
19:14024234 CC2D1A C>T	19	14024234	14024234	C	T	CC2D1A	c.531C>T	NM_017721.5	NP_060191.3:p.(Leu177=)	NC_000019.9:g.14024234C>T	(Likely) benign	1 lab	b707a9a2ea
4:435565 ZNF721 G>C	4	435565	435565	G	C	ZNF721	c.2691C>G	NM_133474.4	NP_597731.2:p.(Asp897Glu)	NC_000004.11:g.435565G>C	(Likely) benign	1 lab	b707ce8880
15:31360226 TRPM1 C>T	15	31360226	31360226	C	T	TRPM1	c.349G>A	NM_001252024.2	NP_001238953.1:p.(Glu117Lys)	NC_000015.9:g.31360226C>T	VUS	1 lab	b70947d668
1:22157545 HSPG2 G>A	1	22157545	22157545	G	A	HSPG2	c.11601C>T	NM_005529.7	NP_005520.4:p.(Tyr3867=)	NC_000001.10:g.22157545G>A	(Likely) benign	1 lab	b70a3c95e2
17:1639517 WDR81 C>T	17	1639517	1639517	C	T	WDR81	c.5505+5C>T	NM_001163809.2	NP_001157281.1:p.?	NC_000017.10:g.1639517C>T	(Likely) benign	1 lab	b70ac455f9
11:821778 PNPLA2 G>A	11	821778	821778	G	A	PNPLA2	c.338G>A	NM_020376.4	NP_065109.1:p.(Arg113His)	NC_000011.9:g.821778G>A	VUS	1 lab	b70b879740
16:3778681 CREBBP ACTGGAGGCCAGGCTGGGG>A	16	3778681	3778702	ACTGGAGGCCAGGCTGGGG	A	CREBBP	c.6349_6366del	NM_004380.3	NP_004371.2:p.(Pro2117_Gln2122del)	NC_000016.9:g.3778685_3778702del	VUS	1 lab	b70d03a277
5:112176983 APC A>C	5	112176983	112176983	A	C	APC	c.5692A>C	NM_000038.6	NP_000029.2:p.(Thr1898Pro)	NC_000005.9:g.112176983A>C	VUS	1 lab	b70ec5e056
10:123239427 FGFR2 G>C	10	123239427	123239427	G	C	FGFR2	c.2410C>G	NM_000141.5	NP_000132.3:p.(Pro804Ala)	NC_000010.10:g.123239427G>C	(Likely) benign	1 lab	b70fff70d0
7:140507867 BRAF A>G	7	140507867	140507867	A	G	BRAF	c.609-5T>C	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140507867A>G	VUS	1 lab	b71089fb0c
1:39924155 MACF1 C>A	1	39924155	39924155	C	A	MACF1	c.21189C>A	NM_001394062.1	NP_001380991.1:p.(Ser7063Arg)	NC_000001.10:g.39924155C>A	VUS	1 lab	b711777668
5:70355943 GTF2H2 G>A	5	70355943	70355943	G	A	GTF2H2	c.309+4C>T	NM_001515.4	NP_001506.1:p.?	NC_000005.9:g.70355943G>A	(Likely) benign	1 lab	b7122c7840
2:219920119 IHH G>A	2	219920119	219920119	G	A	IHH	c.1046C>T	NM_002181.4	NP_002172.2:p.(Ala349Val)	NC_000002.11:g.219920119G>A	VUS	1 lab	b71295829f
2:202955610 KIAA2012 C>G	2	202955610	202955610	C	G	KIAA2012	c.487C>G	NM_001277372.4	NP_001264301.2:p.(Arg163Gly)	NC_000002.11:g.202955610C>G	VUS	1 lab	b7133c695a
1:44075160 PTPRF C>G	1	44075160	44075160	C	G	PTPRF	c.3964C>G	NM_002840.5	NP_002831.2:p.(Gln1322Glu)	NC_000001.10:g.44075160C>G	VUS	1 lab	b7135cd62b
2:160994623 ITGB6 G>C	2	160994623	160994623	G	C	ITGB6	c.1195C>G	NM_000888.5	NP_000879.2:p.(Leu399Val)	NC_000002.11:g.160994623G>C	(Likely) benign	1 lab	b7144d4d67
16:2156458 PKD1 C>G	16	2156458	2156458	C	G	PKD1	c.7430G>C	NM_001009944.3	NP_001009944.3:p.(Arg2477Pro)	NC_000016.9:g.2156458C>G	VUS	1 lab	b71566e89e
19:51165817 SHANK1 G>A	19	51165817	51165817	G	A	SHANK1	c.5891C>T	NM_016148.5	NP_057232.2:p.(Ala1964Val)	NC_000019.9:g.51165817G>A	(Likely) benign	1 lab	b7163043bb
3:129195171 IFT122 G>A	3	129195171	129195171	G	A	IFT122	c.830G>A	NM_052989.3	NP_443715.1:p.(Arg277Gln)	NC_000003.11:g.129195171G>A	(Likely) benign	1 lab	b7169833f2
12:120659523 PXN G>A	12	120659523	120659523	G	A	PXN	c.734C>T	NM_001385981.1	NP_001372910.1:p.(Pro245Leu)	NC_000012.11:g.120659523G>A	(Likely) benign	1 lab	b71891d103
15:89386725 ACAN C>T	15	89386725	89386725	C	T	ACAN	c.897C>T	NM_001369268.1	NP_001356197.1:p.(Ala299=)	NC_000015.9:g.89386725C>T	(Likely) benign	1 lab	b7194a692a
12:311006 SLC6A12 G>A	12	311006	311006	G	A	SLC6A12	c.500C>T	NM_001122848.3	NP_001116320.1:p.(Thr167Met)	NC_000012.11:g.311006G>A	(Likely) benign	1 lab	b71a52da19
19:49657806 HRC C>T	19	49657806	49657806	C	T	HRC	c.689G>A	NM_002152.3	NP_002143.1:p.(Gly230Glu)	NC_000019.9:g.49657806C>T	VUS	1 lab	b71be4369a
10:22607645 COMMD3 A>C	10	22607645	22607645	A	C	COMMD3	c.411+3A>C	NM_012071.4	NP_036203.1:p.?	NC_000010.10:g.22607645A>C	VUS	1 lab	b71c31a237
15:75561133 GOLGA6C C>T	15	75561133	75561133	C	T	GOLGA6C	c.1502-5C>T	NM_001164404.2	NP_001157876.1:p.?	NC_000015.9:g.75561133C>T	VUS	1 lab	b71ca86695
1:11893657 CLCN6 C>T	1	11893657	11893657	C	T	CLCN6	c.1334C>T	NM_001286.5	NP_001277.2:p.(Pro445Leu)	NC_000001.10:g.11893657C>T	VUS	1 lab	b71d51da8c
4:151242403 LRBA C>T	4	151242403	151242403	C	T	LRBA	c.7570G>A	NM_001364905.1	NP_001351834.1:p.(Ala2524Thr)	NC_000004.11:g.151242403C>T	VUS	1 lab	b71d76a7b6
19:42729208 ZNF526 C>T	19	42729208	42729208	C	T	ZNF526	c.653C>T	NM_133444.3	NP_597701.1:p.(Thr218Ile)	NC_000019.9:g.42729208C>T	(Likely) benign	1 lab	b71db74afb
1:152278398 FLG G>C	1	152278398	152278398	G	C	FLG	c.8964C>G	NM_002016.2	NP_002007.1:p.(Ser2988Arg)	NC_000001.10:g.152278398G>C	VUS	1 lab	b71e92b650
9:116997919 COL27A1 T>C	9	116997919	116997919	T	C	COL27A1	c.2606T>C	NM_032888.4	NP_116277.2:p.(Phe869Ser)	NC_000009.11:g.116997919T>C	VUS	1 lab	b71f0769c5
20:2636036 NOP56 G>A	20	2636036	2636036	G	A	NOP56	c.635G>A	NM_006392.4	NP_006383.2:p.(Arg212His)	NC_000020.10:g.2636036G>A	(Likely) benign	1 lab	b71f797f93
21:47845865 PCNT C>A	21	47845865	47845865	C	A	PCNT	c.7300C>A	NM_006031.6	NP_006022.3:p.(Leu2434Ile)	NC_000021.8:g.47845865C>A	(Likely) benign	1 lab	b7205da97b
1:160093180 ATP1A2 A>G	1	160093180	160093180	A	G	ATP1A2	c.355A>G	NM_000702.4	NP_000693.1:p.(Met119Val)	NC_000001.10:g.160093180A>G	(Likely) benign	1 lab	b721680d8a
1:100340827 AGL T>C	1	100340827	100340827	T	C	AGL	c.1185+15T>C	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100340827T>C	(Likely) benign	1 lab	2b20a3f10c
1:103352432 COL11A1 T>C	1	103352432	103352432	T	C	COL11A1	c.4789A>G	NM_001854.4	NP_001845.3:p.(Met1597Val)	NC_000001.10:g.103352432T>C	(Likely) benign	1 lab	b721c67ac8
8:144620854 ZC3H3 G>A	8	144620854	144620854	G	A	ZC3H3	c.683C>T	NM_015117.3	NP_055932.2:p.(Ala228Val)	NC_000008.10:g.144620854G>A	(Likely) benign	1 lab	b722540b65
11:32437947 WT1 C>T	11	32437947	32437947	C	T	WT1				NC_000011.9:g.32437947C>T	(Likely) pathogenic	1 lab	2b241072f5
17:7416364 POLR2A C>T	17	7416364	7416364	C	T	POLR2A	c.4781C>T	NM_000937.5	NP_000928.1:p.(Ser1594Leu)	NC_000017.10:g.7416364C>T	(Likely) benign	1 lab	b722841fe5
15:90212858 PLIN1 T>C	15	90212858	90212858	T	C	PLIN1	c.644A>G	NM_002666.5	NP_002657.3:p.(Lys215Arg)	NC_000015.9:g.90212858T>C	(Likely) benign	1 lab	b7231e1ea4
16:28502884 CLN3 G>A	16	28502884	28502884	G	A	CLN3	c.47-3C>T	NM_001042432.2	NP_001035897.1:p.?	NC_000016.9:g.28502884G>A	(Likely) benign	1 lab	b72545d24d
11:17408544 KCNJ11 G>A	11	17408544	17408544	G	A	KCNJ11	c.1095C>T	NM_000525.4	NP_000516.3:p.(Arg365=)	NC_000011.9:g.17408544G>A	(Likely) benign	1 lab	b726d14062
7:31003736 GHRHR C>T	7	31003736	31003736	C	T	GHRHR	c.53C>T	NM_000823.4	NP_000814.2:p.(Pro18Leu)	NC_000007.13:g.31003736C>T	(Likely) benign	1 lab	b727bbdfcf
1:43621956 CFAP144 G>A	1	43621956	43621956	G	A	CFAP144	c.377G>A	NM_001101376.3	NP_001094846.2:p.(Trp126Ter)	NC_000001.10:g.43621956G>A	VUS	1 lab	b727bf9db4
6:87968319 ZNF292 A>G	6	87968319	87968319	A	G	ZNF292	c.4972A>G	NM_015021.3	NP_055836.1:p.(Ile1658Val)	NC_000006.11:g.87968319A>G	(Likely) benign	1 lab	b72867dffe
9:140040250 GRIN1 C>G	9	140040250	140040250	C	G	GRIN1	c.466C>G	NM_007327.4	NP_015566.1:p.(Arg156Gly)	NC_000009.11:g.140040250C>G	VUS	1 lab	b72941f523
1:61872230 NFIA A>C	1	61872230	61872230	A	C	NFIA	c.1255-4A>C	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872230A>C	(Likely) benign	1 lab	b7298af8a4
14:74041697 ACOT2 C>T	14	74041697	74041697	C	T	ACOT2	c.932C>T	NM_006821.6	NP_006812.3:p.(Thr311Met)	NC_000014.8:g.74041697C>T	VUS	1 lab	b729b5d793
20:43053014 HNF4A G>A	20	43053014	43053014	G	A	HNF4A	c.1129+120G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43053014G>A	(Likely) benign	1 lab	b72a77185d
9:139090884 LHX3 C>T	9	139090884	139090884	C	T	LHX3	c.476G>A	NM_178138.6	NP_835258.1:p.(Arg159Gln)	NC_000009.11:g.139090884C>T	VUS	1 lab	b72cfc5bf6
1:197396855 CRB1 C>G	1	197396855	197396855	C	G	CRB1	c.2400C>G	NM_201253.3	NP_957705.1:p.(Ile800Met)	NC_000001.10:g.197396855C>G	VUS	1 lab	b72dafbb3d
11:22276937 ANO5 T>C	11	22276937	22276937	T	C	ANO5	c.1201T>C	NM_213599.3	NP_998764.1:p.(Trp401Arg)	NC_000011.9:g.22276937T>C	VUS	1 lab	b730de84b3
17:79771345 GCGR C>T	17	79771345	79771345	C	T	GCGR	c.1219-5C>T	NM_000160.5	NP_000151.1:p.?	NC_000017.10:g.79771345C>T	VUS	1 lab	b7317644d9
12:8808062 MFAP5 A>G	12	8808062	8808062	A	G	MFAP5	c.140-19T>C	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8808062A>G	(Likely) benign	1 lab	2b27c95f36
16:2147201 PKD1 T>G	16	2147201	2147201	T	G	PKD1	c.10447A>C	NM_001009944.2	NP_001009944.2:p.(Ser3483Arg)	NC_000016.9:g.2147201T>G	(Likely) benign	1 lab	2b2efd5885
14:36158716 RALGAPA1 T>C	14	36158716	36158716	T	C	RALGAPA1	c.2901A>G	NM_001346249.2	NP_001333178.1:p.(Glu967=)	NC_000014.8:g.36158716T>C	VUS	1 lab	b73389bd21
1:152082449 TCHH T>C	1	152082449	152082449	T	C	TCHH	c.3244A>G	NM_007113.4	NP_009044.2:p.(Lys1082Glu)	NC_000001.10:g.152082449T>C	(Likely) benign	1 lab	b737070935
4:91234011 CCSER1 T>C	4	91234011	91234011	T	C	CCSER1	c.1325-3T>C	NM_001145065.2	NP_001138537.1:p.?	NC_000004.11:g.91234011T>C	(Likely) benign	1 lab	b73b16eb8e
15:99434644 IGF1R A>G	15	99434644	99434644	A	G	IGF1R	c.731A>G	NM_000875.5	NP_000866.1:p.(Asn244Ser)	NC_000015.9:g.99434644A>G	VUS	1 lab	b73b7e6fa0
19:14030014 CC2D1A A>T	19	14030014	14030014	A	T	CC2D1A	c.1221A>T	NM_017721.5	NP_060191.3:p.(Pro407=)	NC_000019.9:g.14030014A>T	VUS	1 lab	b73c217433
6:33658853 ITPR3 G>C	6	33658853	33658853	G	C	ITPR3	c.7192G>C	NM_002224.3	NP_002215.2:p.(Glu2398Gln)	NC_000006.11:g.33658853G>C	(Likely) benign	1 lab	2b31c47a86
5:134366963 PITX1 C>T	5	134366963	134366963	C	T	PITX1	c.402+3G>A	NM_002653.5	NP_002644.4:p.?	NC_000005.9:g.134366963C>T	(Likely) benign	1 lab	b73d07a6d8
1:240370343 FMN2 T>A	1	240370343	240370343	T	A	FMN2	c.2231T>A	NM_020066.5	NP_064450.3:p.(Ile744Lys)	NC_000001.10:g.240370343T>A	VUS	1 lab	b73d90f66c
4:104053867 CENPE A>T	4	104053867	104053867	A	T	CENPE	c.6907T>A	NM_001813.3	NP_001804.2:p.(Phe2303Ile)	NC_000004.11:g.104053867A>T	VUS	1 lab	b73db15f39
12:7362769 PEX5 G>A	12	7362769	7362769	G	A	PEX5	c.1870G>A	NM_001351132.2	NP_001338061.1:p.(Asp624Asn)	NC_000012.11:g.7362769G>A	VUS	1 lab	b73e884128
7:31011598 GHRHR A>T	7	31011598	31011598	A	T	GHRHR	c.485A>T	NM_000823.4	NP_000814.2:p.(Asn162Ile)	NC_000007.13:g.31011598A>T	VUS	1 lab	b73f06cf8d
11:34093267 CAPRIN1 A>C	11	34093267	34093267	A	C	CAPRIN1	c.217-6A>C	NM_005898.5	NP_005889.3:p.?	NC_000011.9:g.34093267A>C	(Likely) benign	1 lab	b73fa0712a
4:6288879 WFS1 G>A	4	6288879	6288879	G	A	WFS1	c.292G>A	NM_006005.3	NP_005996.2:p.(Gly98Arg)	NC_000004.11:g.6288879G>A	(Likely) pathogenic	1 lab	b73fe1c44f
16:69368426 COG8 T>G	16	69368426	69368426	T	G	COG8	c.1411A>C	NM_032382.5	NP_115758.3:p.(Lys471Gln)	NC_000016.9:g.69368426T>G	VUS	1 lab	b740429610
X:63574664 MTMR8 T>A	X	63574664	63574664	T	A	MTMR8	c.461A>T	NM_017677.4	NP_060147.2:p.(Asn154Ile)	NC_000023.10:g.63574664T>A	VUS	1 lab	b743484208
21:44483123 CBS C>T	21	44483123	44483123	C	T	CBS	c.894G>A	NM_000071.3	NP_000062.1:p.(Gln298=)	NC_000021.8:g.44483123C>T	(Likely) benign	1 lab	b743e0fc23
X:23752461 ACOT9 G>C	X	23752461	23752461	G	C	ACOT9	c.142C>G	NM_001037171.2	NP_001032248.1:p.(His48Asp)	NC_000023.10:g.23752461G>C	(Likely) benign	1 lab	b74419f693
16:2153867 PKD1 C>CGTCCG	16	2153867	2153872	C	CGTCCG	PKD1	c.8186_8190dup	NM_001009944.3	NP_001009944.3:p.(Val2731ArgfsTer27)	NC_000016.9:g.2153868_2153872dup	(Likely) pathogenic	1 lab	b74d1f6c4d
9:135946689 CEL GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC>G	9	135946689	135946914	GGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC	G	CEL	c.1828_2025del	NM_001807.6	NP_001798.3:p.(Ser610_Asp675del)	NC_000009.11:g.135946717_135946914del	(Likely) benign	1 lab	b745ab94ea
1:240370976 FMN2 C>T	1	240370976	240370976	C	T	FMN2	c.2864C>T	NM_020066.5	NP_064450.3:p.(Pro955Leu)	NC_000001.10:g.240370976C>T	(Likely) benign	1 lab	b746018a46
6:51524155 PKHD1 A>G	6	51524155	51524155	A	G	PKHD1	c.10769T>C	NM_138694.4	NP_619639.3:p.(Ile3590Thr)	NC_000006.11:g.51524155A>G	VUS	1 lab	b746be4695
17:10541679 MYH3 C>T	17	10541679	10541679	C	T	MYH3	c.3410G>A	NM_002470.4	NP_002461.2:p.(Arg1137His)	NC_000017.10:g.10541679C>T	VUS	1 lab	b747bf3e5d
2:179427692 TTN C>G	2	179427692	179427692	C	G	TTN	c.83167G>C	NM_001267550.2	NP_001254479.2:p.(Glu27723Gln)	NC_000002.11:g.179427692C>G	VUS	1 lab	295736dc30
12:6638935 NCAPD2 C>T	12	6638935	6638935	C	T	NCAPD2	c.3654-6C>T	NM_014865.4	NP_055680.3:p.?	NC_000012.11:g.6638935C>T	(Likely) benign	1 lab	b748143a60
2:166183502 SCN2A A>G	2	166183502	166183502	A	G	SCN2A	c.2149+8A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183502A>G	(Likely) benign	1 lab	2b3352d56f
15:34047354 RYR3 T>A	15	34047354	34047354	T	A	RYR3	c.8488T>A	NM_001036.6	NP_001027.3:p.(Ser2830Thr)	NC_000015.9:g.34047354T>A	VUS	1 lab	b74941c4d6
9:140481549 ZMYND19 G>A	9	140481549	140481549	G	A	ZMYND19	c.229C>T	NM_138462.3	NP_612471.1:p.(Arg77Trp)	NC_000009.11:g.140481549G>A	(Likely) benign	1 lab	b7494fb80b
17:40500537 STAT3 T>C	17	40500537	40500537	T	C	STAT3	c.-3A>G	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40500537T>C	(Likely) benign	1 lab	b749d376eb
3:47908822 MAP4 T>C	3	47908822	47908822	T	C	MAP4	c.6415A>G	NM_001385682.1	NP_001372611.1:p.(Ile2139Val)	NC_000003.11:g.47908822T>C	VUS	1 lab	b74ae29ed0
16:71602660 TAT G>A	16	71602660	71602660	G	A	TAT	c.1178C>T	NM_000353.3	NP_000344.1:p.(Thr393Met)	NC_000016.9:g.71602660G>A	VUS	1 lab	b74bd23c20
11:118342584 KMT2A A>G	11	118342584	118342584	A	G	KMT2A	c.710A>G	NM_001197104.2	NP_001184033.1:p.(His237Arg)	NC_000011.9:g.118342584A>G	VUS	1 lab	b74d15a463
16:30740464 SRCAP C>T	16	30740464	30740464	C	T	SRCAP	c.5836C>T	NM_006662.3	NP_006653.2:p.(Pro1946Ser)	NC_000016.9:g.30740464C>T	VUS	1 lab	b74d1d55ba
5:127681112 FBN2 A>G	5	127681112	127681112	A	G	FBN2	c.3154T>C	NM_001999.4	NP_001990.2:p.(Cys1052Arg)	NC_000005.9:g.127681112A>G	VUS	1 lab	b74ed8dd0f
8:144997699 PLEC G>A	8	144997699	144997699	G	A	PLEC	c.6398C>T	NM_201384.3	NP_958786.1:p.(Ala2133Val)	NC_000008.10:g.144997699G>A	VUS	1 lab	b74eddf55c
3:58109363 FLNB C>T	3	58109363	58109363	C	T	FLNB	c.3670C>T	NM_001457.4	NP_001448.2:p.(Pro1224Ser)	NC_000003.11:g.58109363C>T	VUS	1 lab	b751f96443
1:53372284 ECHDC2 C>T	1	53372284	53372284	C	T	ECHDC2	c.365-1G>A	NM_001198961.2	NP_001185890.1:p.?	NC_000001.10:g.53372284C>T	VUS	1 lab	b7522a5483
X:114424716 RBMXL3 C>T	X	114424716	114424716	C	T	RBMXL3	c.712C>T	NM_001145346.2	NP_001138818.1:p.(Arg238Trp)	NC_000023.10:g.114424716C>T	(Likely) benign	1 lab	b754b05ef2
X:107936016 COL4A5 C>A	X	107936016	107936016	C	A	COL4A5	c.4567C>A	NM_033380.3	NP_203699.1:p.(Pro1523Thr)	NC_000023.10:g.107936016C>A	VUS	1 lab	b7569c00a1
5:180050958 FLT4 C>T	5	180050958	180050958	C	T	FLT4	c.1525G>A	NM_182925.5	NP_891555.2:p.(Glu509Lys)	NC_000005.9:g.180050958C>T	(Likely) benign	1 lab	b7575f64b6
1:207646291 CR2 A>T	1	207646291	207646291	A	T	CR2	c.1745A>T	NM_001006658.3	NP_001006659.1:p.(Glu582Val)	NC_000001.10:g.207646291A>T	(Likely) benign	1 lab	b759f95fc5
20:44528469 PLTP A>C	20	44528469	44528469	A	C	PLTP	c.1218+6T>G	NM_006227.4	NP_006218.1:p.?	NC_000020.10:g.44528469A>C	(Likely) benign	1 lab	b75a6058a0
5:236697 SDHA A>C	5	236697	236697	A	C	SDHA	c.1415A>C	NM_004168.4	NP_004159.2:p.(Glu472Ala)	NC_000005.9:g.236697A>C	(Likely) benign	1 lab	2b369dadcc
2:168108081 XIRP2 T>G	2	168108081	168108081	T	G	XIRP2	c.10179T>G	NM_152381.6	NP_689594.4:p.(His3393Gln)	NC_000002.11:g.168108081T>G	(Likely) benign	1 lab	b75b9a6d57
22:18210242 BCL2L13 C>T	22	18210242	18210242	C	T	BCL2L13	c.1400C>T	NM_015367.4	NP_056182.2:p.(Ala467Val)	NC_000022.10:g.18210242C>T	VUS	1 lab	b75bc482ed
8:145140818 GPAA1 C>G	8	145140818	145140818	C	G	GPAA1	c.1656C>G	NM_003801.4	NP_003792.1:p.(Ser552Arg)	NC_000008.10:g.145140818C>G	VUS	1 lab	b75cf8b198
16:1810503 MAPK8IP3 G>A	16	1810503	1810503	G	A	MAPK8IP3	c.1427G>A	NM_001318852.2	NP_001305781.1:p.(Arg476His)	NC_000016.9:g.1810503G>A	(Likely) benign	1 lab	b75e95ac93
19:16987019 SIN3B GCC>TCT	19	16987019	16987021	GCC	TCT	SIN3B	c.2746_2748delinsTCT	NM_001297595.2	NP_001284524.1:p.(Ala916Ser)	NC_000019.9:g.16987019_16987021delinsTCT	(Likely) benign	1 lab	b7602d8311
19:13869989 YJU2B T>A	19	13869989	13869989	T	A	YJU2B	c.476T>A	NM_030818.4	NP_110445.1:p.(Leu159His)	NC_000019.9:g.13869989T>A	VUS	1 lab	b7605f64da
11:122944490 CLMP GA>G	11	122944490	122944496	GA	G	CLMP	c.822-9del	NM_024769.5	NP_079045.1:p.?	NC_000011.9:g.122944496del	(Likely) benign	1 lab	b7613ca9e3
17:48148847 ITGA3 C>T	17	48148847	48148847	C	T	ITGA3	c.924C>T	NM_002204.4	NP_002195.1:p.(Gly308=)	NC_000017.10:g.48148847C>T	VUS	1 lab	b761dd3621
17:33491203 UNC45B C>T	17	33491203	33491203	C	T	UNC45B	c.1151+18C>T	NM_001033576.2	NP_001028748.1:p.?	NC_000017.10:g.33491203C>T	(Likely) benign	1 lab	2b38eca50a
12:48369286 COL2A1 C>T	12	48369286	48369286	C	T	COL2A1	c.3700G>A	NM_001844.5	NP_001835.3:p.(Asp1234Asn)	NC_000012.11:g.48369286C>T	VUS	1 lab	b762a9dbb5
2:166775889 TTC21B G>C	2	166775889	166775889	G	C	TTC21B	c.1571C>G	NM_024753.5	NP_079029.3:p.(Ser524Cys)	NC_000002.11:g.166775889G>C	(Likely) benign	1 lab	2b39f7c677
12:112915494 PTPN11 A>G	12	112915494	112915494	A	G	PTPN11	c.893A>G	NM_002834.5	NP_002825.3:p.(Asn298Ser)	NC_000012.11:g.112915494A>G	VUS	1 lab	b7654215d1
9:117129940 AKNA C>G	9	117129940	117129940	C	G	AKNA	c.1611G>C	NM_001317950.2	NP_001304879.1:p.(Ser537=)	NC_000009.11:g.117129940C>G	(Likely) benign	1 lab	b7655733c4
10:102283671 NDUFB8 G>C	10	102283671	102283671	G	C	NDUFB8	c.484C>G	NM_005004.4	NP_004995.1:p.(Pro162Ala)	NC_000010.10:g.102283671G>C	VUS	1 lab	b765925a78
15:89417255 ACAN C>T	15	89417255	89417255	C	T	ACAN	c.7630C>T	NM_001369268.1	NP_001356197.1:p.(Pro2544Ser)	NC_000015.9:g.89417255C>T	(Likely) benign	1 lab	b7668c73f3
1:154540736 CHRNB2 C>T	1	154540736	154540736	C	T	CHRNB2	c.64+152C>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154540736C>T	(Likely) benign	1 lab	2b40d50f98
X:34962261 FAM47B T>C	X	34962261	34962261	T	C	FAM47B	c.1313T>C	NM_152631.3	NP_689844.2:p.(Leu438Pro)	NC_000023.10:g.34962261T>C	(Likely) benign	1 lab	b768124611
1:21904037 ALPL G>C	1	21904037	21904037	G	C	ALPL	c.1471G>C	NM_000478.6	NP_000469.3:p.(Gly491Arg)	NC_000001.10:g.21904037G>C	VUS	1 lab	b7699f6832
16:88876191 APRT C>T	16	88876191	88876191	C	T	APRT	c.458G>A	NM_000485.3	NP_000476.1:p.(Cys153Tyr)	NC_000016.9:g.88876191C>T	(Likely) pathogenic	1 lab	2b4215fc34
2:179648954 TTN G>A	2	179648954	179648954	G	A	TTN	c.2618C>T	NM_001267550.2	NP_001254479.2:p.(Ala873Val)	NC_000002.11:g.179648954G>A	VUS	1 lab	b76c02db11
2:71163196 ATP6V1B1 C>T	2	71163196	71163196	C	T	ATP6V1B1	c.112C>T	NM_001692.4	NP_001683.2:p.(Arg38Cys)	NC_000002.11:g.71163196C>T	VUS	1 lab	b77c48fb50
14:100742986 YY1 G>GCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA	14	100742986	100742987	G	GCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA	YY1	c.1062+1_1062+2insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA	NM_003403.5	NP_003394.1:p.?	NC_000014.8:g.100742986_100742987insCACGTTCGAAGGCTGTGGGAAACGCTTTTCACTGGACTTCAATTTGCGCACACATGTGCGAATCCA	VUS	1 lab	b76eca5ca2
11:66633649 PC TCCGC>T	11	66633649	66633655	TCCGC	T	PC	c.1185+5_1185+8del	NM_001040716.2	NP_001035806.1:p.?	NC_000011.9:g.66633652_66633655del	VUS	1 lab	b76f559fee
X:115303927 AGTR2 A>AT	X	115303927	115303935	A	AT	AGTR2	c.402dup	NM_000686.5	NP_000677.2:p.(Ile135TyrfsTer7)	NC_000023.10:g.115303935dup	VUS	1 lab	b76f7438c0
11:2606535 KCNQ1 C>T	11	2606535	2606535	C	T	KCNQ1	c.1126C>T	NM_000218.2	NP_000209.2:p.(Gln376Ter)	NC_000011.9:g.2606535C>T	(Likely) pathogenic	1 lab	2b42bd85a8
7:151856069 KMT2C C>T	7	151856069	151856069	C	T	KMT2C	c.11549G>A	NM_170606.3	NP_733751.2:p.(Arg3850Gln)	NC_000007.13:g.151856069C>T	(Likely) benign	1 lab	b771022d08
19:38951154 RYR1 CG>C	19	38951154	38951159	CG	C	RYR1	c.2505del	NM_000540.3	NP_000531.2:p.(Pro836LeufsTer48)	NC_000019.9:g.38951159del	(Likely) pathogenic	1 lab	b771e6ab03
X:37431423 LANCL3 C>G	X	37431423	37431423	C	G	LANCL3	c.300C>G	NM_001170331.2	NP_001163802.1:p.(Ile100Met)	NC_000023.10:g.37431423C>G	VUS	1 lab	b772782a1b
X:9864448 SHROOM2 C>G	X	9864448	9864448	C	G	SHROOM2	c.2500C>G	NM_001649.4	NP_001640.1:p.(Arg834Gly)	NC_000023.10:g.9864448C>G	VUS	1 lab	b77536a656
2:227895218 COL4A4 G>A	2	227895218	227895218	G	A	COL4A4	c.3914C>T	NM_000092.5	NP_000083.3:p.(Pro1305Leu)	NC_000002.11:g.227895218G>A	VUS	1 lab	b775642fa8
2:210804206 UNC80 G>A	2	210804206	210804206	G	A	UNC80	c.6476G>A	NM_001371986.1	NP_001358915.1:p.(Arg2159Gln)	NC_000002.11:g.210804206G>A	VUS	1 lab	b7756ac915
13:110802780 COL4A1 G>A	13	110802780	110802780	G	A	COL4A1	c.4940C>T	NM_001845.6	NP_001836.3:p.(Pro1647Leu)	NC_000013.10:g.110802780G>A	VUS	1 lab	b775caeeeb
19:48908235 GRIN2D G>A	19	48908235	48908235	G	A	GRIN2D	c.710G>A	NM_000836.4	NP_000827.2:p.(Arg237His)	NC_000019.9:g.48908235G>A	VUS	1 lab	b77727b7fb
2:74689218 MOGS G>T	2	74689218	74689218	G	T	MOGS	c.1698C>A	NM_006302.3	NP_006293.2:p.(Asp566Glu)	NC_000002.11:g.74689218G>T	VUS	1 lab	295f3d9b54
15:75676620 SIN3A A>C	15	75676620	75676620	A	C	SIN3A	c.3180T>G	NM_001145358.2	NP_001138830.1:p.(Asp1060Glu)	NC_000015.9:g.75676620A>C	VUS	1 lab	b78428a1b6
4:187159440 KLKB1 A>G	4	187159440	187159440	A	G	KLKB1	c.519A>G	NM_000892.5	NP_000883.2:p.(Gly173=)	NC_000004.11:g.187159440A>G	(Likely) benign	1 lab	b7867d4700
1:16475123 EPHA2 C>T	1	16475123	16475123	C	T	EPHA2	c.573G>A	NM_004431.5	NP_004422.2:p.(Leu191=)	NC_000001.10:g.16475123C>T	(Likely) benign	1 lab	2961fdfb3b
16:105475 SNRNP25 T>C	16	105475	105475	T	C	SNRNP25	c.59T>C	NM_024571.4	NP_078847.2:p.(Val20Ala)	NC_000016.9:g.105475T>C	VUS	1 lab	b788022617
X:41201996 DDX3X C>CT	X	41201996	41202000	C	CT	DDX3X	c.454dup	NM_001356.5	NP_001347.3:p.(Ser152PhefsTer8)	NC_000023.10:g.41202000dup	(Likely) pathogenic	1 lab	b78a047c6f
21:34924607 SON A>G	21	34924607	34924607	A	G	SON	c.3070A>G	NM_138927.4	NP_620305.3:p.(Met1024Val)	NC_000021.8:g.34924607A>G	VUS	1 lab	b78ab7f082
5:176932029 DOK3 T>C	5	176932029	176932029	T	C	DOK3	c.455A>G	NM_001308236.3	NP_001295165.1:p.(Tyr152Cys)	NC_000005.9:g.176932029T>C	(Likely) benign	1 lab	b78ad81c22
7:27222431 HOXA11 G>A	7	27222431	27222431	G	A	HOXA11	c.926C>T	NM_005523.6	NP_005514.1:p.(Ala309Val)	NC_000007.13:g.27222431G>A	VUS	1 lab	b78b14229e
6:24429340 GPLD1 CT>C	6	24429340	24429342	CT	C	GPLD1	c.2442del	NM_001503.4	NP_001494.2:p.(Val815SerfsTer47)	NC_000006.11:g.24429342del	VUS	1 lab	b78b923031
4:184614095 TRAPPC11 C>T	4	184614095	184614095	C	T	TRAPPC11	c.2050-18C>T	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184614095C>T	(Likely) benign	1 lab	32c77f1357
17:40688628 NAGLU C>T	17	40688628	40688628	C	T	NAGLU	c.338C>T	NM_000263.4	NP_000254.2:p.(Pro113Leu)	NC_000017.10:g.40688628C>T	VUS	1 lab	b78d92c8e9
2:220347820 SPEG C>T	2	220347820	220347820	C	T	SPEG	c.5635C>T	NM_005876.5	NP_005867.3:p.(Arg1879Cys)	NC_000002.11:g.220347820C>T	(Likely) benign	1 lab	b78da6d515
11:551741 LRRC56 C>T	11	551741	551741	C	T	LRRC56	c.887C>T	NM_198075.4	NP_932341.1:p.(Ser296Phe)	NC_000011.9:g.551741C>T	(Likely) benign	1 lab	b78e727174
19:40368837 FCGBP C>T	19	40368837	40368837	C	T	FCGBP	c.12511G>A	NM_003890.3	NP_003881.2:p.(Asp4171Asn)	NC_000019.9:g.40368837C>T	VUS	1 lab	b78ee14ba0
2:152438012 NEB G>A	2	152438012	152438012	G	A	NEB	c.16269C>T	NM_001164508.2	NP_001157980.2:p.(Ala5423=)	NC_000002.11:g.152438012G>A	(Likely) benign	1 lab	b78f608302
6:51909841 PKHD1 G>A	6	51909841	51909841	G	A	PKHD1	c.2638C>T	NM_138694.4	NP_619639.3:p.(Arg880Cys)	NC_000006.11:g.51909841G>A	(Likely) benign	1 lab	b78f8223d4
2:233028257 DIS3L2 T>C	2	233028257	233028257	T	C	DIS3L2	c.1039T>C	NM_152383.5	NP_689596.4:p.(Phe347Leu)	NC_000002.11:g.233028257T>C	VUS	1 lab	b78fab5fbe
17:8438762 MYH10 C>T	17	8438762	8438762	C	T	MYH10	c.1837G>A	NM_001256012.3	NP_001242941.1:p.(Val613Met)	NC_000017.10:g.8438762C>T	VUS	1 lab	b790db6bf0
3:16327884 OXNAD1 T>G	3	16327884	16327884	T	G	OXNAD1	c.219T>G	NM_138381.5	NP_612390.1:p.(Ser73Arg)	NC_000003.11:g.16327884T>G	VUS	1 lab	b79185ae48
19:50310454 FUZ C>T	19	50310454	50310454	C	T	FUZ	c.1211G>A	NM_025129.5	NP_079405.2:p.(Arg404Gln)	NC_000019.9:g.50310454C>T	VUS	1 lab	b7975341b8
4:1808859 FGFR3 C>T	4	1808859	1808859	C	T	FGFR3	c.2291C>T	NM_000142.5	NP_000133.1:p.(Ser764Leu)	NC_000004.11:g.1808859C>T	VUS	1 lab	b7979da2e5
X:53264010 IQSEC2 C>G	X	53264010	53264010	C	G	IQSEC2	c.3858G>C	NM_001111125.3	NP_001104595.1:p.(Gln1286His)	NC_000023.10:g.53264010C>G	(Likely) benign	1 lab	b797cfe4b4
9:711524 KANK1 C>G	9	711524	711524	C	G	KANK1	c.758C>G	NM_015158.5	NP_055973.2:p.(Thr253Ser)	NC_000009.11:g.711524C>G	VUS	1 lab	b799682e0b
X:44969337 KDM6A A>G	X	44969337	44969337	A	G	KDM6A	c.4175A>G	NM_001291415.2	NP_001278344.1:p.(Asp1392Gly)	NC_000023.10:g.44969337A>G	VUS	1 lab	b79ad32188
X:74494180 UPRT C>T	X	74494180	74494180	C	T	UPRT	c.91C>T	NM_145052.4	NP_659489.1:p.(Pro31Ser)	NC_000023.10:g.74494180C>T	(Likely) benign	1 lab	b79c60767f
16:53653107 RPGRIP1L A>T	16	53653107	53653107	A	T	RPGRIP1L	c.3446T>A	NM_015272.5	NP_056087.2:p.(Ile1149Asn)	NC_000016.9:g.53653107A>T	VUS	1 lab	b79d55081f
1:152286835 FLG T>C	1	152286835	152286835	T	C	FLG	c.527A>G	NM_002016.2	NP_002007.1:p.(Asn176Ser)	NC_000001.10:g.152286835T>C	(Likely) benign	1 lab	b79df2cf26
5:153857038 HAND1 C>G	5	153857038	153857038	C	G	HAND1	c.531G>C	NM_004821.3	NP_004812.1:p.(Arg177=)	NC_000005.9:g.153857038C>G	(Likely) benign	1 lab	b7a0d67fda
8:69728166 C8orf34 C>T	8	69728166	69728166	C	T	C8orf34	c.1595C>T	NM_052958.4	NP_443190.2:p.(Thr532Met)	NC_000008.10:g.69728166C>T	(Likely) benign	1 lab	b7a0e16cd7
2:220075811 ABCB6 C>T	2	220075811	220075811	C	T	ABCB6	c.1988G>A	NM_005689.4	NP_005680.1:p.(Arg663Gln)	NC_000002.11:g.220075811C>T	(Likely) benign	1 lab	b7a104cb18
11:113629336 ZW10 T>C	11	113629336	113629336	T	C	ZW10	c.673A>G	NM_004724.4	NP_004715.1:p.(Ser225Gly)	NC_000011.9:g.113629336T>C	VUS	1 lab	b7a13451ca
11:102592155 MMP8 T>G	11	102592155	102592155	T	G	MMP8	c.599A>C	NM_002424.3	NP_002415.1:p.(Glu200Ala)	NC_000011.9:g.102592155T>G	VUS	1 lab	b7a23fe3b9
17:6596392 SLC13A5 C>A	17	6596392	6596392	C	A	SLC13A5	c.1246G>T	NM_177550.5	NP_808218.1:p.(Gly416Cys)	NC_000017.10:g.6596392C>A	VUS	1 lab	b7a2866003
3:58080584 FLNB T>C	3	58080584	58080584	T	C	FLNB	c.809T>C	NM_001457.4	NP_001448.2:p.(Met270Thr)	NC_000003.11:g.58080584T>C	VUS	1 lab	b7a3478abc
12:1937242 LRTM2 G>A	12	1937242	1937242	G	A	LRTM2	c.-73G>A	NM_001039029.3	NP_001034118.1:p.?	NC_000012.11:g.1937242G>A	(Likely) benign	1 lab	b7a4f09163
22:19754254 TBX1 A>C	22	19754254	19754254	A	C	TBX1	c.1379A>C	NM_001379200.1	NP_001366129.1:p.(His460Pro)	NC_000022.10:g.19754254A>C	VUS	1 lab	b7a53148a7
15:89402405 ACAN G>A	15	89402405	89402405	G	A	ACAN	c.6589G>A	NM_001369268.1	NP_001356197.1:p.(Glu2197Lys)	NC_000015.9:g.89402405G>A	VUS	1 lab	b7a53abc1a
4:148407117 EDNRA T>C	4	148407117	148407117	T	C	EDNRA	c.284T>C	NM_001957.4	NP_001948.1:p.(Met95Thr)	NC_000004.11:g.148407117T>C	VUS	1 lab	b7a5929a16
1:160156152 ATP1A4 C>T	1	160156152	160156152	C	T	ATP1A4	c.3056C>T	NM_144699.4	NP_653300.2:p.(Pro1019Leu)	NC_000001.10:g.160156152C>T	VUS	1 lab	b7a6163569
2:173338886 ITGA6 G>C	2	173338886	173338886	G	C	ITGA6	c.879G>C	NM_000210.4	NP_000201.2:p.(Lys293Asn)	NC_000002.11:g.173338886G>C	VUS	1 lab	b7a6ba11cd
2:128393882 MYO7B G>A	2	128393882	128393882	G	A	MYO7B	c.6106G>A	NM_001393586.1	NP_001380515.1:p.(Ala2036Thr)	NC_000002.11:g.128393882G>A	VUS	1 lab	b7a74cdf97
4:156723558 GUCY1B1 G>A	4	156723558	156723558	G	A	GUCY1B1	c.1240G>A	NM_000857.5	NP_000848.1:p.(Ala414Thr)	NC_000004.11:g.156723558G>A	VUS	1 lab	b7a7902245
10:88992705 NUTM2A C>T	10	88992705	88992705	C	T	NUTM2A	c.1697C>T	NM_001099338.2	NP_001092808.1:p.(Thr566Ile)	NC_000010.10:g.88992705C>T	(Likely) benign	1 lab	b7a8054832
19:47883157 DHX34 T>TGGAGGA	19	47883157	47883175	T	TGGAGGA	DHX34	c.2910_2915dup	NM_014681.6	NP_055496.2:p.(Glu970_Glu971dup)	NC_000019.9:g.47883170_47883175dup	VUS	1 lab	b7a94a2185
12:125449538 DHX37 C>T	12	125449538	125449538	C	T	DHX37	c.1750G>A	NM_032656.4	NP_116045.2:p.(Ala584Thr)	NC_000012.11:g.125449538C>T	(Likely) benign	1 lab	b7a95c5f31
22:18644597 USP18 G>A	22	18644597	18644597	G	A	USP18	c.295G>A	NM_017414.4	NP_059110.2:p.(Val99Ile)	NC_000022.10:g.18644597G>A	(Likely) benign	1 lab	b7a9d16380
1:43692686 CFAP57 T>C	1	43692686	43692686	T	C	CFAP57	c.2898T>C	NM_001378189.1	NP_001365118.1:p.(Asn966=)	NC_000001.10:g.43692686T>C	(Likely) benign	1 lab	b7a9d85644
17:8053631 PER1 T>C	17	8053631	8053631	T	C	PER1	c.280A>G	NM_002616.3	NP_002607.2:p.(Asn94Asp)	NC_000017.10:g.8053631T>C	VUS	1 lab	b7aa7d4772
17:41246613 BRCA1 C>T	17	41246613	41246613	C	T	BRCA1	c.935G>A	NM_007294.4	NP_009225.1:p.(Gly312Asp)	NC_000017.10:g.41246613C>T	VUS	1 lab	b7ac5ce330
2:220113160 STK16 G>A	2	220113160	220113160	G	A	STK16	c.797G>A	NM_001330213.2	NP_001317142.1:p.(Arg266Gln)	NC_000002.11:g.220113160G>A	VUS	1 lab	b7acb1b317
6:121544432 TBC1D32 G>T	6	121544432	121544432	G	T	TBC1D32	c.2431C>A	NM_152730.6	NP_689943.4:p.(Leu811Ile)	NC_000006.11:g.121544432G>T	(Likely) benign	1 lab	b7ad6870a0
12:123741445 MTRFR A>G	12	123741445	123741445	A	G	MTRFR	c.368A>G	NM_152269.5	NP_689482.1:p.(Glu123Gly)	NC_000012.11:g.123741445A>G	VUS	1 lab	b7ad8e327c
3:78689054 ROBO1 TA>T	3	78689054	78689064	TA	T	ROBO1	c.2883-7del	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78689064del	VUS	1 lab	b7afb36007
3:183960407 ALG3 G>C	3	183960407	183960407	G	C	ALG3	c.1212C>G	NM_005787.6	NP_005778.1:p.(Cys404Trp)	NC_000003.11:g.183960407G>C	VUS	1 lab	b7b04390e1
12:96374589 HAL T>A	12	96374589	96374589	T	A	HAL	c.1340A>T	NM_002108.4	NP_002099.1:p.(Glu447Val)	NC_000012.11:g.96374589T>A	VUS	1 lab	b7b0b2b77f
8:144998654 PLEC G>A	8	144998654	144998654	G	A	PLEC	c.5443C>T	NM_201384.3	NP_958786.1:p.(Arg1815Trp)	NC_000008.10:g.144998654G>A	VUS	1 lab	b7b147220f
X:71521800 CITED1 C>G	X	71521800	71521800	C	G	CITED1	c.355G>C	NM_001144887.2	NP_001138359.1:p.(Gly119Arg)	NC_000023.10:g.71521800C>G	VUS	1 lab	b7b19a1ba6
5:67576422 PIK3R1 A>G	5	67576422	67576422	A	G	PIK3R1	c.701A>G	NM_181523.3	NP_852664.1:p.(His234Arg)	NC_000005.9:g.67576422A>G	VUS	1 lab	b7b2975114
22:19423476 MRPL40 T>G	22	19423476	19423476	T	G	MRPL40	c.612T>G	NM_003776.4	NP_003767.2:p.(Phe204Leu)	NC_000022.10:g.19423476T>G	VUS	1 lab	b7b316eb71
4:100574890 C4orf54 C>A	4	100574890	100574890	C	A	C4orf54	c.916G>T	NM_001354435.2	NP_001341364.1:p.(Glu306Ter)	NC_000004.11:g.100574890C>A	VUS	1 lab	b7b3373358
X:101909209 GPRASP1 G>T	X	101909209	101909209	G	T	GPRASP1	c.368G>T	NM_001184727.2	NP_001171656.1:p.(Ser123Ile)	NC_000023.10:g.101909209G>T	(Likely) benign	1 lab	b7b375aa1e
13:32813927 FRY G>A	13	32813927	32813927	G	A	FRY	c.6596G>A	NM_023037.3	NP_075463.2:p.(Arg2199Lys)	NC_000013.10:g.32813927G>A	VUS	1 lab	b7b5e682e1
1:22173990 HSPG2 A>G	1	22173990	22173990	A	G	HSPG2	c.8026-5T>C	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22173990A>G	(Likely) benign	1 lab	b7b62c1f16
16:81962229 PLCG2 G>A	16	81962229	81962229	G	A	PLCG2	c.2581G>A	NM_002661.5	NP_002652.2:p.(Val861Met)	NC_000016.9:g.81962229G>A	VUS	1 lab	b7b6fbe883
15:29090875 GOLGA6L7 C>A	15	29090875	29090875	C	A	GOLGA6L7	c.344G>T	NM_001365371.2	NP_001352300.1:p.(Arg115Met)	NC_000015.9:g.29090875C>A	(Likely) benign	1 lab	b7b71b274f
9:101891370 TGFBR1 C>T	9	101891370	101891370	C	T	TGFBR1	c.331C>T	NM_004612.4	NP_004603.1:p.(Leu111Phe)	NC_000009.11:g.101891370C>T	(Likely) benign	1 lab	b7b8271af0
15:100215639 MEF2A A>G	15	100215639	100215639	A	G	MEF2A	c.646A>G	NM_001319206.4	NP_001306135.1:p.(Asn216Asp)	NC_000015.9:g.100215639A>G	VUS	1 lab	b7b92d391b
9:131873917 PTPA C>G	9	131873917	131873917	C	G	PTPA	c.31+7C>G	NM_178000.3	NP_821067.1:p.?	NC_000009.11:g.131873917C>G	(Likely) benign	1 lab	b7b98946d0
6:43623326 RSPH9 G>A	6	43623326	43623326	G	A	RSPH9	c.421G>A	NM_152732.5	NP_689945.2:p.(Val141Met)	NC_000006.11:g.43623326G>A	(Likely) benign	1 lab	2b452d2de5
7:6441504 RAC1 T>A	7	6441504	6441504	T	A	RAC1	c.294T>A	NM_006908.5	NP_008839.2:p.(Tyr98Ter)	NC_000007.13:g.6441504T>A	VUS	1 lab	b7ba9b4523
10:104353799 SUFU T>G	10	104353799	104353799	T	G	SUFU	c.733T>G	NM_016169.4	NP_057253.2:p.(Phe245Val)	NC_000010.10:g.104353799T>G	(Likely) benign	1 lab	b7bb558b66
2:29006820 PPP1CB A>T	2	29006820	29006820	A	T	PPP1CB	c.568A>T	NM_002709.3	NP_002700.1:p.(Arg190Ter)	NC_000002.11:g.29006820A>T	VUS	1 lab	b7bebe56cb
6:32012793 TNXB C>A	6	32012793	32012793	C	A	TNXB	c.10917G>T	NM_001365276.2	NP_001352205.1:p.(Glu3639Asp)	NC_000006.11:g.32012793C>A	VUS	1 lab	b7bf40eaf9
11:62437278 LBHD1 G>C	11	62437278	62437278	G	C	LBHD1	c.151-3C>G	NM_024099.5	NP_077004.2:p.?	NC_000011.9:g.62437278G>C	VUS	1 lab	b7bfbd0e52
8:38272409 FGFR1 C>A	8	38272409	38272409	C	A	FGFR1	c.1865G>T	NM_023110.3	NP_075598.2:p.(Arg622Leu)	NC_000008.10:g.38272409C>A	VUS	1 lab	b7c18b66bd
19:47878968 DHX34 G>GGACATCCA	19	47878968	47878970	G	GGACATCCA	DHX34	c.2307+4_2307+5insACATCCAG	NM_014681.6	NP_055496.2:p.?	NC_000019.9:g.47878969_47878970insACATCCAG	(Likely) benign	1 lab	b7c1a2607a
11:111753152 CFAP68 G>C	11	111753152	111753152	G	C	CFAP68	c.106G>C	NM_022761.3	NP_073598.1:p.(Gly36Arg)	NC_000011.9:g.111753152G>C	VUS	1 lab	b7c21fa89f
19:45868219 ERCC2 C>A	19	45868219	45868219	C	A	ERCC2	c.478-7G>T	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45868219C>A	(Likely) benign	1 lab	b7c368f991
20:47324875 PREX1 TG>T	20	47324875	47324877	TG	T	PREX1	c.705del	NM_020820.4	NP_065871.3:p.(Asn236ThrfsTer44)	NC_000020.10:g.47324877del	VUS	1 lab	b7c596662e
1:39888149 MACF1 A>G	1	39888149	39888149	A	G	MACF1	c.15920A>G	NM_001394062.1	NP_001380991.1:p.(Gln5307Arg)	NC_000001.10:g.39888149A>G	(Likely) benign	1 lab	b7c6536a4a
2:54876849 SPTBN1 A>G	2	54876849	54876849	A	G	SPTBN1	c.5300A>G	NM_003128.3	NP_003119.2:p.(Asn1767Ser)	NC_000002.11:g.54876849A>G	VUS	1 lab	b7c94ff502
1:40319688 TRIT1 T>C	1	40319688	40319688	T	C	TRIT1	c.368A>G	NM_017646.6	NP_060116.2:p.(Asn123Ser)	NC_000001.10:g.40319688T>C	VUS	1 lab	b7cb704173
8:77617150 ZFHX4 C>A	8	77617150	77617150	C	A	ZFHX4	c.827C>A	NM_024721.5	NP_078997.4:p.(Pro276His)	NC_000008.10:g.77617150C>A	VUS	1 lab	b7cbfd11e8
13:25009531 PARP4 T>C	13	25009531	25009531	T	C	PARP4	c.3748A>G	NM_006437.4	NP_006428.2:p.(Met1250Val)	NC_000013.10:g.25009531T>C	VUS	1 lab	b7ccd10647
9:34655629 IL11RA C>T	9	34655629	34655629	C	T	IL11RA	c.128C>T	NM_001142784.3	NP_001136256.1:p.(Ser43Phe)	NC_000009.11:g.34655629C>T	(Likely) benign	1 lab	b7cd68085e
5:10973781 CTNND2 G>A	5	10973781	10973781	G	A	CTNND2	c.3462C>T	NM_001332.4	NP_001323.1:p.(Tyr1154=)	NC_000005.9:g.10973781G>A	(Likely) benign	1 lab	2b4c1c4ceb
6:87967348 ZNF292 A>G	6	87967348	87967348	A	G	ZNF292	c.4001A>G	NM_015021.3	NP_055836.1:p.(Asn1334Ser)	NC_000006.11:g.87967348A>G	(Likely) benign	1 lab	b7cf52773e
3:186954139 MASP1 G>A	3	186954139	186954139	G	A	MASP1	c.1520C>T	NM_139125.4	NP_624302.1:p.(Thr507Met)	NC_000003.11:g.186954139G>A	VUS	1 lab	b7d20f5260
9:2069986 SMARCA2 A>T	9	2069986	2069986	A	T	SMARCA2	c.1693-432A>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2069986A>T	(Likely) benign	1 lab	b7d2ab7ea5
19:34921518 UBA2 GAC>G	19	34921518	34921521	GAC	G	UBA2	c.178_179del	NM_005499.3	NP_005490.1:p.(Gln60ValfsTer28)	NC_000019.9:g.34921520_34921521del	VUS	1 lab	b7d3b96995
3:48618584 COL7A1 C>T	3	48618584	48618584	C	T	COL7A1	c.4906G>A	NM_000094.4	NP_000085.1:p.(Val1636Ile)	NC_000003.11:g.48618584C>T	(Likely) benign	1 lab	b7d3c8743d
16:2163175 PKD1 AC>A	16	2163175	2163177	AC	A	PKD1	c.2971del	NM_001009944.3	NP_001009944.3:p.(Val991SerfsTer6)	NC_000016.9:g.2163177del	(Likely) pathogenic	1 lab	b7d44dd54a
16:67116109 CBFB C>G	16	67116109	67116109	C	G	CBFB	c.400-7C>G	NM_022845.3	NP_074036.1:p.?	NC_000016.9:g.67116109C>G	(Likely) benign	1 lab	b7d4777de6
2:128050331 ERCC3 C>T	2	128050331	128050331	C	T	ERCC3	c.326G>A	NM_000122.2	NP_000113.1:p.(Arg109Gln)	NC_000002.11:g.128050331C>T	VUS	1 lab	2967cb3692
11:666892 DEAF1 A>G	11	666892	666892	A	G	DEAF1	c.1503+7644T>C	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.666892A>G	(Likely) benign	1 lab	b7d50761b4
X:114541230 LUZP4 CCACTCAGAGAGATCTCATAGT>C	X	114541230	114541267	CCACTCAGAGAGATCTCATAGT	C	LUZP4	c.820_840del	NM_016383.5	NP_057467.1:p.(Ile274_Leu280del)	NC_000023.10:g.114541247_114541267del	VUS	1 lab	b7d669f043
7:120387853 KCND2 G>A	7	120387853	120387853	G	A	KCND2	c.1834G>A	NM_012281.3	NP_036413.1:p.(Asp612Asn)	NC_000007.13:g.120387853G>A	VUS	1 lab	b7d7fbc95d
X:79999521 BRWD3 C>G	X	79999521	79999521	C	G	BRWD3	c.813+10G>C	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79999521C>G	(Likely) benign	1 lab	b7d86de77d
5:98215396 CHD1 C>G	5	98215396	98215396	C	G	CHD1	c.3097G>C	NM_001270.4	NP_001261.2:p.(Glu1033Gln)	NC_000005.9:g.98215396C>G	(Likely) benign	1 lab	b7dab50124
17:15961820 NCOR1 T>C	17	15961820	15961820	T	C	NCOR1	c.5975A>G	NM_006311.4	NP_006302.2:p.(Tyr1992Cys)	NC_000017.10:g.15961820T>C	(Likely) benign	1 lab	b7db4e6c02
17:41931296 CD300LG C>A	17	41931296	41931296	C	A	CD300LG	c.603C>A	NM_145273.4	NP_660316.2:p.(Thr201=)	NC_000017.10:g.41931296C>A	VUS	1 lab	b7de0da5f0
2:108489085 RGPD4 G>T	2	108489085	108489085	G	T	RGPD4	c.4625G>T	NM_182588.3	NP_872394.2:p.(Gly1542Val)	NC_000002.11:g.108489085G>T	(Likely) benign	1 lab	b7e2f7f184
20:44581022 ZNF335 C>A	20	44581022	44581022	C	A	ZNF335	c.2953G>T	NM_022095.4	NP_071378.1:p.(Asp985Tyr)	NC_000020.10:g.44581022C>A	VUS	1 lab	b7e33cd1b3
20:10653424 JAG1 GC>G	20	10653424	10653429	GC	G	JAG1	c.311del	NM_000214.3	NP_000205.1:p.(Gly104AlafsTer57)	NC_000020.10:g.10653429del	(Likely) pathogenic	1 lab	b7e5250e2d
2:230744715 TRIP12 G>C	2	230744715	230744715	G	C	TRIP12	c.81C>G	NM_001348323.3	NP_001335252.1:p.(Asp27Glu)	NC_000002.11:g.230744715G>C	VUS	1 lab	b7e56a8d1d
11:4112940 STIM1 A>C	11	4112940	4112940	A	C	STIM1	c.2063A>C	NM_001382567.1	NP_001369496.1:p.(Asp688Ala)	NC_000011.9:g.4112940A>C	VUS	1 lab	b7e58e25a9
16:597112 CAPN15 G>A	16	597112	597112	G	A	CAPN15	c.274G>A	NM_005632.3	NP_005623.1:p.(Ala92Thr)	NC_000016.9:g.597112G>A	(Likely) benign	1 lab	b7e6967530
7:100275154 GNB2 A>G	7	100275154	100275154	A	G	GNB2	c.301A>G	NM_005273.4	NP_005264.2:p.(Met101Val)	NC_000007.13:g.100275154A>G	VUS	1 lab	296c1e1c83
4:15704853 BST1 G>GGGCGCGCGCGCGGT	4	15704853	15704873	G	GGGCGCGCGCGCGGT	BST1	c.93_106dup	NM_004334.3	NP_004325.2:p.(Gly36AlafsTer28)	NC_000004.11:g.15704860_15704873dup	VUS	1 lab	b7e71cb85d
7:100247735 ACTL6B C>G	7	100247735	100247735	C	G	ACTL6B	c.393G>C	NM_016188.5	NP_057272.1:p.(Glu131Asp)	NC_000007.13:g.100247735C>G	VUS	1 lab	b7e791a72d
4:85723016 WDFY3 T>A	4	85723016	85723016	T	A	WDFY3	c.2609A>T	NM_014991.6	NP_055806.2:p.(His870Leu)	NC_000004.11:g.85723016T>A	(Likely) benign	1 lab	b7e7d6f92c
8:38271757 FGFR1 G>A	8	38271757	38271757	G	A	FGFR1	c.2099C>T	NM_023110.3	NP_075598.2:p.(Pro700Leu)	NC_000008.10:g.38271757G>A	(Likely) pathogenic	1 lab	b7e7dfc9ff
2:162275496 TBR1 C>A	2	162275496	162275496	C	A	TBR1	c.1063C>A	NM_006593.4	NP_006584.1:p.(Arg355Ser)	NC_000002.11:g.162275496C>A	(Likely) benign	1 lab	b7ea1db227
5:13844939 DNAH5 G>A	5	13844939	13844939	G	A	DNAH5	c.5271+7C>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13844939G>A	(Likely) benign	1 lab	b7ea33ab6f
7:6547845 GRID2IP C>T	7	6547845	6547845	C	T	GRID2IP	c.2315G>A	NM_001145118.2	NP_001138590.1:p.(Arg772His)	NC_000007.13:g.6547845C>T	VUS	1 lab	b7eb4d1762
X:102883960 TCEAL1 T>TA	X	102883960	102883961	T	TA	TCEAL1	c.-113+7_-113+8insA	NM_004780.3	NP_004771.2:p.?	NC_000023.10:g.102883960_102883961insA	(Likely) benign	1 lab	b7eb8f7270
3:123441106 MYLK C>T	3	123441106	123441106	C	T	MYLK	c.1673G>A	NM_053025.3	NP_444253.3:p.(Arg558His)	NC_000003.11:g.123441106C>T	(Likely) benign	1 lab	2b4d90fea7
3:51412013 DOCK3 G>A	3	51412013	51412013	G	A	DOCK3	c.5407G>A	NM_004947.5	NP_004938.1:p.(Gly1803Arg)	NC_000003.11:g.51412013G>A	VUS	1 lab	296ee33534
1:38006293 SNIP1 C>A	1	38006293	38006293	C	A	SNIP1	c.391G>T	NM_024700.4	NP_078976.2:p.(Glu131Ter)	NC_000001.10:g.38006293C>A	VUS	1 lab	b7ee9354b3
15:89398328 ACAN T>G	15	89398328	89398328	T	G	ACAN	c.2512T>G	NM_001369268.1	NP_001356197.1:p.(Ser838Ala)	NC_000015.9:g.89398328T>G	(Likely) benign	1 lab	b7eefa2903
15:99434748 IGF1R C>T	15	99434748	99434748	C	T	IGF1R	c.835C>T	NM_000875.5	NP_000866.1:p.(Arg279Cys)	NC_000015.9:g.99434748C>T	VUS	1 lab	b7eefbbda4
X:54957715 TRO CTT>C	X	54957715	54957718	CTT	C	TRO	c.*92_*93del	NM_001039705.3	NP_001034794.1:p.?	NC_000023.10:g.54957717_54957718del	VUS	1 lab	b7ef8066ce
6:160828081 SLC22A3 G>A	6	160828081	160828081	G	A	SLC22A3	c.542G>A	NM_021977.4	NP_068812.1:p.(Arg181Lys)	NC_000006.11:g.160828081G>A	VUS	1 lab	b7f2747936
8:100050706 VPS13B A>G	8	100050706	100050706	A	G	VPS13B	c.203A>G	NM_152564.5	NP_689777.3:p.(His68Arg)	NC_000008.10:g.100050706A>G	VUS	1 lab	b7f2eb383a
11:14303161 RRAS2 C>G	11	14303161	14303161	C	G	RRAS2	c.514G>C	NM_012250.6	NP_036382.2:p.(Val172Leu)	NC_000011.9:g.14303161C>G	VUS	1 lab	b7f30b6f0b
4:128732793 HSPA4L T>TA	4	128732793	128732794	T	TA	HSPA4L	c.1578+3dup	NM_014278.4	NP_055093.2:p.?	NC_000004.11:g.128732794dup	VUS	1 lab	b7f379802e
X:111903870 LHFPL1 T>C	X	111903870	111903870	T	C	LHFPL1	c.466A>G	NM_178175.4	NP_835469.1:p.(Asn156Asp)	NC_000023.10:g.111903870T>C	VUS	1 lab	b7f60a543c
17:61573863 ACE C>T	17	61573863	61573863	C	T	ACE	c.3489C>T	NM_000789.4	NP_000780.1:p.(Ala1163=)	NC_000017.10:g.61573863C>T	(Likely) benign	1 lab	2b4f391820
3:45557694 LARS2 A>G	3	45557694	45557694	A	G	LARS2	c.1970A>G	NM_015340.4	NP_056155.1:p.(Tyr657Cys)	NC_000003.11:g.45557694A>G	(Likely) benign	1 lab	b7f63ec5e1
1:16259688 SPEN C>A	1	16259688	16259688	C	A	SPEN	c.6953C>A	NM_015001.3	NP_055816.2:p.(Ser2318Tyr)	NC_000001.10:g.16259688C>A	(Likely) benign	1 lab	b7f70c3bab
6:158579307 SERAC1 A>G	6	158579307	158579307	A	G	SERAC1	c.89T>C	NM_032861.4	NP_116250.3:p.(Ile30Thr)	NC_000006.11:g.158579307A>G	(Likely) benign	1 lab	b7f96e00d3
8:61732627 CHD7 G>A	8	61732627	61732627	G	A	CHD7				NC_000008.10:g.61732627G>A	(Likely) benign	1 lab	2b50a64d23
X:106096795 TBC1D8B A>G	X	106096795	106096795	A	G	TBC1D8B	c.2168A>G	NM_017752.3	NP_060222.2:p.(Asn723Ser)	NC_000023.10:g.106096795A>G	(Likely) benign	1 lab	b7fe374769
1:152284679 FLG T>G	1	152284679	152284679	T	G	FLG	c.2683A>C	NM_002016.2	NP_002007.1:p.(Thr895Pro)	NC_000001.10:g.152284679T>G	(Likely) benign	1 lab	b7ff6cb064
14:102499639 DYNC1H1 C>T	14	102499639	102499639	C	T	DYNC1H1	c.10231C>T	NM_001376.5	NP_001367.2:p.(Pro3411Ser)	NC_000014.8:g.102499639C>T	(Likely) pathogenic	1 lab	b802afc803
19:30934640 ZNF536 G>A	19	30934640	30934640	G	A	ZNF536	c.171G>A	NM_014717.3	NP_055532.1:p.(Glu57=)	NC_000019.9:g.30934640G>A	(Likely) benign	1 lab	b8039d7292
14:20760259 TTC5 TC>T	14	20760259	20760261	TC	T	TTC5	c.1085del	NM_138376.3	NP_612385.2:p.(Gly362AspfsTer6)	NC_000014.8:g.20760261del	VUS	1 lab	b803edca33
12:31246230 DDX11 G>T	12	31246230	31246230	G	T	DDX11	c.1341G>T	NM_030653.4	NP_085911.2:p.(Leu447Phe)	NC_000012.11:g.31246230G>T	VUS	1 lab	b8044a620e
9:3301544 RFX3 A>C	9	3301544	3301544	A	C	RFX3	c.549+2T>G	NM_001282116.2	NP_001269045.1:p.?	NC_000009.11:g.3301544A>C	(Likely) pathogenic	1 lab	b8047f21c8
16:68729684 CDH3 A>G	16	68729684	68729684	A	G	CDH3	c.2138A>G	NM_001793.6	NP_001784.2:p.(Tyr713Cys)	NC_000016.9:g.68729684A>G	VUS	1 lab	b8058e687d
16:1569940 IFT140 TG>T	16	1569940	1569942	TG	T	IFT140	c.3981del	NM_014714.4	NP_055529.2:p.(Arg1328GlyfsTer12)	NC_000016.9:g.1569942del	(Likely) pathogenic	1 lab	b805e4d8a0
2:36668393 CRIM1 C>T	2	36668393	36668393	C	T	CRIM1	c.506-8C>T	NM_016441.3	NP_057525.1:p.?	NC_000002.11:g.36668393C>T	(Likely) benign	1 lab	b806d3cb4f
14:81574739 TSHR A>G	14	81574739	81574739	A	G	TSHR	c.635A>G	NM_000369.5	NP_000360.2:p.(Tyr212Cys)	NC_000014.8:g.81574739A>G	VUS	1 lab	b8079dbf3c
4:121958554 NDNF G>A	4	121958554	121958554	G	A	NDNF	c.572C>T	NM_024574.4	NP_078850.3:p.(Thr191Met)	NC_000004.11:g.121958554G>A	(Likely) benign	1 lab	b80b044c35
18:77455318 CTDP1 C>T	18	77455318	77455318	C	T	CTDP1	c.398+10C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77455318C>T	(Likely) benign	1 lab	b80b9d7db2
10:70182578 DNA2 T>C	10	70182578	70182578	T	C	DNA2	c.2278A>G	NM_001080449.3	NP_001073918.2:p.(Ile760Val)	NC_000010.10:g.70182578T>C	VUS	1 lab	b80d79876d
22:30163542 UQCR10 G>C	22	30163542	30163542	G	C	UQCR10	c.150+5G>C	NM_013387.4	NP_037519.2:p.?	NC_000022.10:g.30163542G>C	VUS	1 lab	b80e65bf77
4:155158012 DCHS2 A>G	4	155158012	155158012	A	G	DCHS2	c.7792T>C	NM_001358235.2	NP_001345164.1:p.(Phe2598Leu)	NC_000004.11:g.155158012A>G	VUS	1 lab	b80e68401c
19:41858694 TGFB1 C>A	19	41858694	41858694	C	A	TGFB1	c.256G>T	NM_000660.7	NP_000651.3:p.(Asp86Tyr)	NC_000019.9:g.41858694C>A	VUS	1 lab	b80fdb7462
20:62046269 KCNQ2 C>T	20	62046269	62046269	C	T	KCNQ2	c.1512G>A	NM_172107.4	NP_742105.1:p.(Arg504=)	NC_000020.10:g.62046269C>T	(Likely) benign	1 lab	2b527f031c
8:33357846 TTI2 C>T	8	33357846	33357846	C	T	TTI2	c.1422G>A	NM_001102401.4	NP_001095871.1:p.(Lys474=)	NC_000008.10:g.33357846C>T	VUS	1 lab	b81129019f
20:43048414 HNF4A G>A	20	43048414	43048414	G	A	HNF4A	c.790G>A	NM_000457.5	NP_000448.3:p.(Val264Met)	NC_000020.10:g.43048414G>A	VUS	1 lab	b81132a28b
11:6592353 DNHD1 G>A	11	6592353	6592353	G	A	DNHD1	c.13611G>A	NM_144666.3	NP_653267.2:p.(Trp4537Ter)	NC_000011.9:g.6592353G>A	VUS	1 lab	b811ccd774
16:16302649 ABCC6 A>C	16	16302649	16302649	A	C	ABCC6	c.730T>G	NM_001171.6	NP_001162.5:p.(Ser244Ala)	NC_000016.9:g.16302649A>C	VUS	1 lab	b8134c9ead
13:39542599 STOML3 G>A	13	39542599	39542599	G	A	STOML3	c.589C>T	NM_145286.3	NP_660329.1:p.(Pro197Ser)	NC_000013.10:g.39542599G>A	VUS	1 lab	b8134f8b7d
16:2813543 SRRM2 C>G	16	2813543	2813543	C	G	SRRM2	c.3014C>G	NM_016333.4	NP_057417.3:p.(Pro1005Arg)	NC_000016.9:g.2813543C>G	(Likely) benign	1 lab	b81393f135
2:25967156 ASXL2 C>T	2	25967156	25967156	C	T	ASXL2	c.2050G>A	NM_018263.6	NP_060733.4:p.(Ala684Thr)	NC_000002.11:g.25967156C>T	(Likely) benign	1 lab	b81497435b
10:70182565 DNA2 G>C	10	70182565	70182565	G	C	DNA2	c.2291C>G	NM_001080449.3	NP_001073918.2:p.(Ala764Gly)	NC_000010.10:g.70182565G>C	VUS	1 lab	b814f540cd
3:172165795 GHSR G>A	3	172165795	172165795	G	A	GHSR	c.409C>T	NM_198407.2	NP_940799.1:p.(Leu137=)	NC_000003.11:g.172165795G>A	(Likely) benign	1 lab	b815628c1b
9:713348 KANK1 C>T	9	713348	713348	C	T	KANK1	c.2582C>T	NM_015158.5	NP_055973.2:p.(Ser861Phe)	NC_000009.11:g.713348C>T	VUS	1 lab	b8157edfdf
19:39961167 SUPT5H T>C	19	39961167	39961167	T	C	SUPT5H	c.1677+4T>C	NM_001111020.3	NP_001104490.1:p.?	NC_000019.9:g.39961167T>C	(Likely) benign	1 lab	b8158ed722
15:89876827 POLG T>TTGCTGCTGCTGCTGC	15	89876827	89876860	T	TTGCTGCTGCTGCTGC	POLG	c.144_158dup	NM_002693.3	NP_002684.1:p.(Gln51_Gln55dup)	NC_000015.9:g.89876846_89876860dup	VUS	1 lab	29721afe0f
11:34953034 PDHX G>A	11	34953034	34953034	G	A	PDHX	c.241+3G>A	NM_003477.3	NP_003468.2:p.?	NC_000011.9:g.34953034G>A	(Likely) benign	1 lab	b8166ee48f
18:29496382 TRAPPC8 G>A	18	29496382	29496382	G	A	TRAPPC8	c.470C>T	NM_014939.5	NP_055754.3:p.(Ala157Val)	NC_000018.9:g.29496382G>A	(Likely) benign	1 lab	b81771a1a4
8:108972931 RSPO2 G>A	8	108972931	108972931	G	A	RSPO2	c.398C>T	NM_178565.5	NP_848660.3:p.(Ala133Val)	NC_000008.10:g.108972931G>A	(Likely) benign	1 lab	b817750819
3:151090478 MED12L G>A	3	151090478	151090478	G	A	MED12L	c.3788G>A	NM_001393769.1	NP_001380698.1:p.(Cys1263Tyr)	NC_000003.11:g.151090478G>A	VUS	1 lab	b8189ab5dc
14:78082885 SPTLC2 G>A	14	78082885	78082885	G	A	SPTLC2	c.38C>T	NM_004863.4	NP_004854.1:p.(Thr13Met)	NC_000014.8:g.78082885G>A	(Likely) benign	1 lab	b819106ca6
1:27101532 ARID1A C>T	1	27101532	27101532	C	T	ARID1A	c.4814C>T	NM_006015.6	NP_006006.3:p.(Pro1605Leu)	NC_000001.10:g.27101532C>T	(Likely) benign	1 lab	b81adcbc3a
15:99486193 IGF1R C>T	15	99486193	99486193	C	T	IGF1R	c.3499C>T	NM_000875.5	NP_000866.1:p.(Arg1167Trp)	NC_000015.9:g.99486193C>T	VUS	1 lab	b81b4bdc20
4:8873079 HMX1 C>G	4	8873079	8873079	C	G	HMX1	c.262G>C	NM_018942.3	NP_061815.2:p.(Gly88Arg)	NC_000004.11:g.8873079C>G	(Likely) benign	1 lab	b81bd1fc85
22:23656786 BCR C>G	22	23656786	23656786	C	G	BCR	c.3611C>G	NM_004327.4	NP_004318.3:p.(Ala1204Gly)	NC_000022.10:g.23656786C>G	VUS	1 lab	2972c66f57
2:91636034 MISSING C>A	2	91636034	91636034	C	A	MISSING				NC_000002.11:g.91636034C>A	(Likely) benign	1 lab	b81ceb6c2b
1:8420340 RERE G>A	1	8420340	8420340	G	A	RERE	c.3227C>T	NM_001042681.2	NP_001036146.1:p.(Ser1076Leu)	NC_000001.10:g.8420340G>A	(Likely) benign	1 lab	b8215443c3
19:13448761 CACNA1A C>T	19	13448761	13448761	C	T	CACNA1A	c.979-2038G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13448761C>T	(Likely) benign	1 lab	b8215b443d
9:131396130 DYNC2I2 C>T	9	131396130	131396130	C	T	DYNC2I2	c.1504G>A	NM_052844.4	NP_443076.2:p.(Asp502Asn)	NC_000009.11:g.131396130C>T	VUS	1 lab	b821b09aeb
16:70975667 HYDIN T>C	16	70975667	70975667	T	C	HYDIN	c.6725A>G	NM_001270974.2	NP_001257903.1:p.(Gln2242Arg)	NC_000016.9:g.70975667T>C	(Likely) benign	1 lab	b82294b704
1:154544308 CHRNB2 G>A	1	154544308	154544308	G	A	CHRNB2	c.1009G>A	NM_000748.3	NP_000739.1:p.(Val337Ile)	NC_000001.10:g.154544308G>A	(Likely) benign	1 lab	b822f0d867
22:26423535 MYO18B G>A	22	26423535	26423535	G	A	MYO18B	c.7595G>A	NM_032608.7	NP_115997.5:p.(Arg2532Gln)	NC_000022.10:g.26423535G>A	(Likely) benign	1 lab	b823728aff
11:1481882 BRSK2 G>C	11	1481882	1481882	G	C	BRSK2	c.2140G>C	NM_001256627.2	NP_001243556.1:p.(Asp714His)	NC_000011.9:g.1481882G>C	VUS	1 lab	b823a46b92
17:62049961 SCN4A C>G	17	62049961	62049961	C	G	SCN4A	c.241G>C	NM_000334.4	NP_000325.4:p.(Glu81Gln)	NC_000017.10:g.62049961C>G	(Likely) benign	1 lab	b82404da00
12:113612493 DDX54 C>G	12	113612493	113612493	C	G	DDX54	c.1020G>C	NM_024072.4	NP_076977.3:p.(Gln340His)	NC_000012.11:g.113612493C>G	VUS	1 lab	b828e5f838
2:152563375 NEB T>C	2	152563375	152563375	T	C	NEB	c.1152+20A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152563375T>C	(Likely) benign	1 lab	b82965a161
14:95662845 CLMN T>A	14	95662845	95662845	T	A	CLMN	c.2698A>T	NM_024734.4	NP_079010.2:p.(Ile900Phe)	NC_000014.8:g.95662845T>A	(Likely) benign	1 lab	b82b96487b
19:4792822 FEM1A T>G	19	4792822	4792822	T	G	FEM1A	c.956T>G	NM_018708.3	NP_061178.1:p.(Leu319Arg)	NC_000019.9:g.4792822T>G	VUS	1 lab	b82c714086
22:50316288 CRELD2 G>A	22	50316288	50316288	G	A	CRELD2	c.621G>A	NM_024324.5	NP_077300.3:p.(Ser207=)	NC_000022.10:g.50316288G>A	(Likely) benign	1 lab	b82e2cc450
17:73730103 ITGB4 G>A	17	73730103	73730103	G	A	ITGB4	c.1657+330G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73730103G>A	(Likely) benign	1 lab	b82e630e98
X:152915050 DUSP9 A>G	X	152915050	152915050	A	G	DUSP9	c.737A>G	NM_001318503.2	NP_001305432.1:p.(Lys246Arg)	NC_000023.10:g.152915050A>G	VUS	1 lab	b830166b8e
17:73836308 UNC13D G>A	17	73836308	73836308	G	A	UNC13D	c.856C>T	NM_199242.3	NP_954712.1:p.(Arg286Trp)	NC_000017.10:g.73836308G>A	VUS	1 lab	b83156dba1
1:120611962 NOTCH2 G>T	1	120611962	120611962	G	T	NOTCH2	c.59C>A	NM_024408.4	NP_077719.2:p.(Ala20Glu)	NC_000001.10:g.120611962G>T	VUS	1 lab	b8317d012d
22:40082031 CACNA1I C>T	22	40082031	40082031	C	T	CACNA1I	c.6293C>T	NM_021096.4	NP_066919.2:p.(Thr2098Ile)	NC_000022.10:g.40082031C>T	(Likely) benign	1 lab	b8324c70d1
7:44192986 GCK A>G	7	44192986	44192986	A	G	GCK	c.122T>C	NM_000162.5	NP_000153.1:p.(Met41Thr)	NC_000007.13:g.44192986A>G	(Likely) pathogenic	1 lab	b83423e525
3:71484477 FOXP1 G>A	3	71484477	71484477	G	A	FOXP1	c.-168+58100C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71484477G>A	(Likely) benign	1 lab	b8358ba302
12:49315200 DRC2 G>A	12	49315200	49315200	G	A	DRC2	c.1429G>A	NM_033124.5	NP_149115.2:p.(Gly477Ser)	NC_000012.11:g.49315200G>A	(Likely) benign	1 lab	b83645030a
16:1259318 CACNA1H G>A	16	1259318	1259318	G	A	CACNA1H	c.3650G>A	NM_021098.3	NP_066921.2:p.(Arg1217His)	NC_000016.9:g.1259318G>A	VUS	1 lab	b838904dab
2:152384084 NEB G>C	2	152384084	152384084	G	C	NEB	c.21751C>G	NM_001164508.2	NP_001157980.2:p.(Gln7251Glu)	NC_000002.11:g.152384084G>C	VUS	1 lab	b8389d545c
13:111287871 NAXD A>C	13	111287871	111287871	A	C	NAXD	c.654A>C	NM_001242882.2	NP_001229811.1:p.(Gln218His)	NC_000013.10:g.111287871A>C	VUS	1 lab	b838b2f233
X:15841063 ZRSR2 C>G	X	15841063	15841063	C	G	ZRSR2	c.1147C>G	NM_005089.4	NP_005080.1:p.(Pro383Ala)	NC_000023.10:g.15841063C>G	(Likely) benign	1 lab	b83927364b
11:87020661 TMEM135 A>G	11	87020661	87020661	A	G	TMEM135	c.883A>G	NM_022918.4	NP_075069.3:p.(Lys295Glu)	NC_000011.9:g.87020661A>G	VUS	1 lab	b83c61603e
2:178299074 AGPS G>T	2	178299074	178299074	G	T	AGPS	c.370G>T	NM_003659.4	NP_003650.1:p.(Gly124Cys)	NC_000002.11:g.178299074G>T	VUS	1 lab	b83cbbc351
2:55523140 CCDC88A G>T	2	55523140	55523140	G	T	CCDC88A	c.5144C>A	NM_001365480.1	NP_001352409.1:p.(Ser1715Tyr)	NC_000002.11:g.55523140G>T	VUS	1 lab	b83efe5e0f
14:74947402 NPC2 T>C	14	74947402	74947402	T	C	NPC2	c.441+3A>G	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74947402T>C	(Likely) benign	1 lab	b8400465cf
16:89831341 FANCA G>T	16	89831341	89831341	G	T	FANCA	c.2735C>A	NM_000135.4	NP_000126.2:p.(Thr912Lys)	NC_000016.9:g.89831341G>T	VUS	1 lab	b8411f60d0
2:152435896 NEB T>G	2	152435896	152435896	T	G	NEB	c.16660A>C	NM_001164508.2	NP_001157980.2:p.(Asn5554His)	NC_000002.11:g.152435896T>G	VUS	1 lab	b84225324a
7:150768540 SLC4A2 G>A	7	150768540	150768540	G	A	SLC4A2	c.2039G>A	NM_003040.4	NP_003031.3:p.(Arg680Gln)	NC_000007.13:g.150768540G>A	(Likely) benign	1 lab	b84260a162
5:52344584 ITGA2 G>T	5	52344584	52344584	G	T	ITGA2	c.614G>T	NM_002203.4	NP_002194.2:p.(Gly205Val)	NC_000005.9:g.52344584G>T	VUS	1 lab	b845496a8f
2:47707898 MSH2 T>C	2	47707898	47707898	T	C	MSH2	c.2522T>C	NM_000251.3	NP_000242.1:p.(Ile841Thr)	NC_000002.11:g.47707898T>C	VUS	1 lab	b8468910f9
1:158669770 OR6K2 CAG>C	1	158669770	158669772	CAG	C	OR6K2	c.671_672del	NM_001005279.3	NP_001005279.1:p.(Ala224GlyfsTer68)	NC_000001.10:g.158669771_158669772del	VUS	1 lab	b8470c420f
6:43410853 ABCC10 C>G	6	43410853	43410853	C	G	ABCC10	c.2372C>G	NM_001198934.2	NP_001185863.1:p.(Ala791Gly)	NC_000006.11:g.43410853C>G	VUS	1 lab	b849126c18
12:7050620 ATN1 G>A	12	7050620	7050620	G	A	ATN1	c.3442G>A	NM_001940.4	NP_001931.2:p.(Ala1148Thr)	NC_000012.11:g.7050620G>A	(Likely) benign	1 lab	b84c1da9c1
3:172163232 GHSR G>A	3	172163232	172163232	G	A	GHSR	c.820C>T	NM_198407.2	NP_940799.1:p.(Leu274Phe)	NC_000003.11:g.172163232G>A	VUS	1 lab	b84d36fb42
4:69693202 UGT2B10 G>A	4	69693202	69693202	G	A	UGT2B10	c.1243G>A	NM_001075.6	NP_001066.1:p.(Asp415Asn)	NC_000004.11:g.69693202G>A	VUS	1 lab	b84d6866ee
15:57809116 CGNL1 C>T	15	57809116	57809116	C	T	CGNL1	c.2542C>T	NM_032866.5	NP_116255.2:p.(Leu848Phe)	NC_000015.9:g.57809116C>T	VUS	1 lab	b84e690268
19:47249638 STRN4 C>CAGG	19	47249638	47249647	C	CAGG	STRN4	c.47_49dup	NM_013403.3	NP_037535.2:p.(Ser16dup)	NC_000019.9:g.47249645_47249647dup	VUS	1 lab	b84f436b96
9:86530427 KIF27 C>A	9	86530427	86530427	C	A	KIF27	c.80G>T	NM_017576.4	NP_060046.1:p.(Cys27Phe)	NC_000009.11:g.86530427C>A	VUS	1 lab	b85289e355
X:153039480 PLXNB3 G>A	X	153039480	153039480	G	A	PLXNB3	c.3446G>A	NM_005393.3	NP_005384.2:p.(Arg1149His)	NC_000023.10:g.153039480G>A	VUS	1 lab	b852e20293
X:135077097 SLC9A6 A>G	X	135077097	135077097	A	G	SLC9A6	c.478A>G	NM_001042537.2	NP_001036002.1:p.(Ser160Gly)	NC_000023.10:g.135077097A>G	VUS	1 lab	29739ce56a
11:66325264 ACTN3 G>A	11	66325264	66325264	G	A	ACTN3	c.992G>A	NM_001104.4	NP_001095.2:p.(Arg331Gln)	NC_000011.9:g.66325264G>A	(Likely) benign	1 lab	b8541481a6
6:146755375 GRM1 C>T	6	146755375	146755375	C	T	GRM1	c.3028C>T	NM_001278064.2	NP_001264993.1:p.(Pro1010Ser)	NC_000006.11:g.146755375C>T	(Likely) benign	1 lab	b854508a75
12:124229503 ATP6V0A2 C>A	12	124229503	124229503	C	A	ATP6V0A2	c.1589C>A	NM_012463.4	NP_036595.2:p.(Pro530His)	NC_000012.11:g.124229503C>A	VUS	1 lab	b8545513c2
19:14038008 CC2D1A G>A	19	14038008	14038008	G	A	CC2D1A	c.2246G>A	NM_017721.5	NP_060191.3:p.(Arg749Gln)	NC_000019.9:g.14038008G>A	(Likely) benign	1 lab	b854ee8b8d
3:25679805 TOP2B TAAAAAAAAAAAAAAAAAAAA>T	3	25679805	25679843	TAAAAAAAAAAAAAAAAAAAA	T	TOP2B	c.396-24_396-5del	NM_001330700.2	NP_001317629.1:p.?	NC_000003.11:g.25679824_25679843del	(Likely) benign	1 lab	b8551e11f8
16:778412 HAGHL G>C	16	778412	778412	G	C	HAGHL	c.385G>C	NM_032304.4	NP_115680.1:p.(Ala129Pro)	NC_000016.9:g.778412G>C	VUS	1 lab	b85cde986f
20:19970782 RIN2 G>A	20	19970782	19970782	G	A	RIN2	c.1895G>A	NM_018993.4	NP_061866.1:p.(Arg632Gln)	NC_000020.10:g.19970782G>A	(Likely) benign	1 lab	b85567c7b1
7:151874340 KMT2C T>A	7	151874340	151874340	T	A	KMT2C	c.8198A>T	NM_170606.3	NP_733751.2:p.(Asp2733Val)	NC_000007.13:g.151874340T>A	VUS	1 lab	b855d02d83
17:48273840 COL1A1 C>T	17	48273840	48273840	C	T	COL1A1	c.903+5G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273840C>T	VUS	1 lab	b855d2e827
15:101717739 CHSY1 G>A	15	101717739	101717739	G	A	CHSY1	c.2263C>T	NM_014918.5	NP_055733.2:p.(Leu755Phe)	NC_000015.9:g.101717739G>A	VUS	1 lab	b856919575
1:103481285 COL11A1 C>T	1	103481285	103481285	C	T	COL11A1	c.1427G>A	NM_001854.4	NP_001845.3:p.(Arg476His)	NC_000001.10:g.103481285C>T	VUS	1 lab	b857cf943e
10:8007350 TAF3 G>C	10	8007350	8007350	G	C	TAF3	c.1877G>C	NM_031923.4	NP_114129.1:p.(Gly626Ala)	NC_000010.10:g.8007350G>C	(Likely) benign	1 lab	b85884087c
15:43360134 UBR1 C>T	15	43360134	43360134	C	T	UBR1	c.760G>A	NM_174916.3	NP_777576.1:p.(Ala254Thr)	NC_000015.9:g.43360134C>T	(Likely) benign	1 lab	b859095d1c
16:72821880 ZFHX3 G>A	16	72821880	72821880	G	A	ZFHX3	c.10295C>T	NM_006885.4	NP_008816.3:p.(Ser3432Phe)	NC_000016.9:g.72821880G>A	VUS	1 lab	b85adbd396
22:40045653 CACNA1I C>T	22	40045653	40045653	C	T	CACNA1I	c.1715C>T	NM_021096.4	NP_066919.2:p.(Ser572Leu)	NC_000022.10:g.40045653C>T	(Likely) benign	1 lab	b85bc73146
7:47927650 PKD1L1 G>A	7	47927650	47927650	G	A	PKD1L1	c.2774C>T	NM_138295.5	NP_612152.1:p.(Pro925Leu)	NC_000007.13:g.47927650G>A	(Likely) benign	1 lab	b85c1ef945
6:70966518 COL9A1 G>A	6	70966518	70966518	G	A	COL9A1	c.1456C>T	NM_001851.6	NP_001842.3:p.(Arg486Trp)	NC_000006.11:g.70966518G>A	VUS	1 lab	b85c22bfdc
17:38816344 KRT222 C>T	17	38816344	38816344	C	T	KRT222	c.341G>A	NM_152349.3	NP_689562.1:p.(Gly114Asp)	NC_000017.10:g.38816344C>T	VUS	1 lab	b85c3603f4
8:11566151 GATA4 C>T	8	11566151	11566151	C	T	GATA4	c.330C>T	NM_001308093.3	NP_001295022.1:p.(Phe110=)	NC_000008.10:g.11566151C>T	(Likely) benign	1 lab	b85cb304ec
17:11687721 DNAH9 G>A	17	11687721	11687721	G	A	DNAH9	c.7926G>A	NM_001372.4	NP_001363.2:p.(Ala2642=)	NC_000017.10:g.11687721G>A	(Likely) benign	1 lab	b85cbfc138
16:67063379 CBFB C>T	16	67063379	67063379	C	T	CBFB	c.69C>T	NM_022845.3	NP_074036.1:p.(Arg23=)	NC_000016.9:g.67063379C>T	VUS	1 lab	b85d52f93b
16:67682225 CARMIL2 G>C	16	67682225	67682225	G	C	CARMIL2	c.1334+8G>C	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67682225G>C	(Likely) benign	1 lab	32c81d2c6a
16:840607 CHTF18 C>G	16	840607	840607	C	G	CHTF18	c.835C>G	NM_022092.3	NP_071375.1:p.(His279Asp)	NC_000016.9:g.840607C>G	VUS	1 lab	b85e57eed8
3:12458432 PPARG T>G	3	12458432	12458432	T	G	PPARG	c.959T>G	NM_138711.6	NP_619725.3:p.(Val320Gly)	NC_000003.11:g.12458432T>G	VUS	1 lab	b860111915
6:28359073 ZSCAN12 A>G	6	28359073	28359073	A	G	ZSCAN12	c.994T>C	NM_001163391.2	NP_001156863.1:p.(Cys332Arg)	NC_000006.11:g.28359073A>G	(Likely) benign	1 lab	b860e08de9
1:197111931 ASPM T>C	1	197111931	197111931	T	C	ASPM	c.1451A>G	NM_018136.5	NP_060606.3:p.(Asn484Ser)	NC_000001.10:g.197111931T>C	VUS	1 lab	b86153d014
15:99442853 IGF1R A>G	15	99442853	99442853	A	G	IGF1R	c.1247+3A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99442853A>G	(Likely) benign	1 lab	b862a9b6cd
4:152086759 SH3D19 G>A	4	152086759	152086759	G	A	SH3D19	c.1624C>T	NM_001378122.1	NP_001365051.1:p.(Pro542Ser)	NC_000004.11:g.152086759G>A	VUS	1 lab	b862b32a0f
5:38482749 LIFR G>A	5	38482749	38482749	G	A	LIFR	c.2612C>T	NM_001127671.2	NP_001121143.1:p.(Pro871Leu)	NC_000005.9:g.38482749G>A	VUS	1 lab	b8633f4f58
8:41546056 ANK1 A>G	8	41546056	41546056	A	G	ANK1	c.4156T>C	NM_000037.4	NP_000028.3:p.(Tyr1386His)	NC_000008.10:g.41546056A>G	(Likely) benign	1 lab	b86439ea28
15:43028913 CDAN1 G>C	15	43028913	43028913	G	C	CDAN1	c.156C>G	NM_138477.4	NP_612486.2:p.(Phe52Leu)	NC_000015.9:g.43028913G>C	(Likely) pathogenic	1 lab	b8649f5363
1:2235467 SKI C>T	1	2235467	2235467	C	T	SKI	c.1400C>T	NM_003036.4	NP_003027.1:p.(Thr467Met)	NC_000001.10:g.2235467C>T	VUS	1 lab	b865cb076b
9:140127231 SLC34A3 T>C	9	140127231	140127231	T	C	SLC34A3	c.305-5T>C	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140127231T>C	(Likely) benign	1 lab	b866d70dab
X:17653705 NHS A>T	X	17653705	17653705	A	T	NHS	c.566-52157A>T	NM_001291867.2	NP_001278796.1:p.?	NC_000023.10:g.17653705A>T	VUS	1 lab	b878db1102
15:89824418 FANCI G>A	15	89824418	89824418	G	A	FANCI	c.1399G>A	NM_001113378.2	NP_001106849.1:p.(Val467Ile)	NC_000015.9:g.89824418G>A	(Likely) benign	1 lab	b867e1da72
1:12089143 MIIP A>C	1	12089143	12089143	A	C	MIIP	c.601A>C	NM_021933.4	NP_068752.2:p.(Lys201Gln)	NC_000001.10:g.12089143A>C	VUS	1 lab	b8684be1d2
1:23637479 HNRNPR C>A	1	23637479	23637479	C	A	HNRNPR	c.1370G>T	NM_005826.5	NP_005817.1:p.(Gly457Val)	NC_000001.10:g.23637479C>A	(Likely) benign	1 lab	b869e890ff
6:33168235 RXRB G>A	6	33168235	33168235	G	A	RXRB	c.19C>T	NM_021976.5	NP_068811.1:p.(Pro7Ser)	NC_000006.11:g.33168235G>A	VUS	1 lab	b86a58b9e0
16:3639657 SLX4 C>T	16	3639657	3639657	C	T	SLX4	c.3982G>A	NM_032444.4	NP_115820.2:p.(Val1328Ile)	NC_000016.9:g.3639657C>T	(Likely) benign	1 lab	b86f7aa4e4
12:14794126 GUCY2C C>T	12	14794126	14794126	C	T	GUCY2C	c.1958G>A	NM_004963.4	NP_004954.2:p.(Arg653His)	NC_000012.11:g.14794126C>T	VUS	1 lab	b8701a6f86
7:116339743 MET ATTC>A	7	116339743	116339751	ATTC	A	MET	c.611_613del	NM_000245.4	NP_000236.2:p.(Ser204del)	NC_000007.13:g.116339749_116339751del	VUS	1 lab	b87063ac5d
2:29259552 TOGARAM2 A>G	2	29259552	29259552	A	G	TOGARAM2	c.2564A>G	NM_199280.4	NP_954974.2:p.(Asn855Ser)	NC_000002.11:g.29259552A>G	(Likely) benign	1 lab	b8746d4ba3
12:102179979 GNPTAB A>G	12	102179979	102179979	A	G	GNPTAB	c.382T>C	NM_024312.5	NP_077288.2:p.(Cys128Arg)	NC_000012.11:g.102179979A>G	VUS	1 lab	b87496a352
20:42984472 HNF4A G>T	20	42984472	42984472	G	T	HNF4A	c.28G>T	NM_175914.5	NP_787110.2:p.(Ala10Ser)	NC_000020.10:g.42984472G>T	VUS	1 lab	b8751deaae
3:4734861 ITPR1 G>T	3	4734861	4734861	G	T	ITPR1	c.4030-313G>T	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4734861G>T	(Likely) benign	1 lab	b878b83f10
8:133184768 KCNQ3 A>T	8	133184768	133184768	A	T	KCNQ3	c.1140+77T>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133184768A>T	(Likely) benign	1 lab	2b5bb72870
12:88505011 CEP290 AATT>A	12	88505011	88505015	AATT	A	CEP290	c.2332_2334del	NM_025114.4	NP_079390.3:p.(Asn778del)	NC_000012.11:g.88505013_88505015del	VUS	1 lab	b878db0082
X:16188564 MAGEB17 G>A	X	16188564	16188564	G	A	MAGEB17	c.59G>A	NM_001277307.2	NP_001264236.1:p.(Gly20Asp)	NC_000023.10:g.16188564G>A	VUS	1 lab	b878e120cd
15:63947938 HERC1 T>G	15	63947938	63947938	T	G	HERC1	c.10084+3A>C	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63947938T>G	VUS	1 lab	b8795de7f0
19:15272115 NOTCH3 C>T	19	15272115	15272115	C	T	NOTCH3	c.6324G>A	NM_000435.3	NP_000426.2:p.(Pro2108=)	NC_000019.9:g.15272115C>T	(Likely) benign	1 lab	b87b15d3d1
2:216239933 FN1 A>G	2	216239933	216239933	A	G	FN1	c.6157+4T>C	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216239933A>G	(Likely) benign	1 lab	b87beb1a97
19:46285497 DMPK G>A	19	46285497	46285497	G	A	DMPK	c.114C>T	NM_004409.5	NP_004400.4:p.(Ala38=)	NC_000019.9:g.46285497G>A	(Likely) benign	1 lab	b87f140911
6:44268999 AARS2 A>T	6	44268999	44268999	A	T	AARS2	c.2687T>A	NM_020745.4	NP_065796.2:p.(Leu896Gln)	NC_000006.11:g.44268999A>T	VUS	1 lab	b881abf7ef
8:101718959 PABPC1 C>T	8	101718959	101718959	C	T	PABPC1	c.1522G>A	NM_002568.4	NP_002559.2:p.(Val508Ile)	NC_000008.10:g.101718959C>T	VUS	1 lab	b88308f8db
22:29534786 KREMEN1 C>T	22	29534786	29534786	C	T	KREMEN1	c.1123+16C>T	NM_001039570.3	NP_001034659.2:p.?	NC_000022.10:g.29534786C>T	(Likely) benign	1 lab	b887d0e57b
17:60023854 MED13 T>C	17	60023854	60023854	T	C	MED13	c.6500A>G	NM_005121.3	NP_005112.2:p.(Tyr2167Cys)	NC_000017.10:g.60023854T>C	(Likely) benign	1 lab	b88925f63c
19:15295774 NOTCH3 G>A	19	15295774	15295774	G	A	NOTCH3	c.2353C>T	NM_000435.3	NP_000426.2:p.(Arg785Cys)	NC_000019.9:g.15295774G>A	(Likely) pathogenic	1 lab	b88a2f7a58
16:54145724 FTO G>T	16	54145724	54145724	G	T	FTO	c.1415G>T	NM_001080432.3	NP_001073901.1:p.(Cys472Phe)	NC_000016.9:g.54145724G>T	VUS	1 lab	b88ba57563
17:29685496 NF1 A>T	17	29685496	29685496	A	T	NF1	c.7971-2A>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685496A>T	(Likely) benign	1 lab	b88cabcc62
2:179593823 TTN G>A	2	179593823	179593823	G	A	TTN	c.18942C>T	NM_001267550.2	NP_001254479.2:p.(Thr6314=)	NC_000002.11:g.179593823G>A	(Likely) benign	1 lab	b88e011880
1:1354844 ANKRD65 C>T	1	1354844	1354844	C	T	ANKRD65	c.836G>A	NM_001145210.3	NP_001138682.1:p.(Arg279Gln)	NC_000001.10:g.1354844C>T	(Likely) benign	1 lab	b88e832d8d
17:61995399 GH1 C>T	17	61995399	61995399	C	T	GH1	c.269G>A	NM_000515.5	NP_000506.2:p.(Arg90Lys)	NC_000017.10:g.61995399C>T	VUS	1 lab	b88ebc7204
X:30268859 MAGEB1 C>T	X	30268859	30268859	C	T	MAGEB1	c.249C>T	NM_177404.3	NP_796379.1:p.(Ala83=)	NC_000023.10:g.30268859C>T	(Likely) benign	1 lab	b88f818dc1
1:17263230 CROCC G>A	1	17263230	17263230	G	A	CROCC	c.1055G>A	NM_014675.5	NP_055490.4:p.(Arg352Gln)	NC_000001.10:g.17263230G>A	VUS	1 lab	b88fd120af
15:99434588 IGF1R C>T	15	99434588	99434588	C	T	IGF1R	c.675C>T	NM_000875.5	NP_000866.1:p.(Thr225=)	NC_000015.9:g.99434588C>T	(Likely) benign	1 lab	b891aab7e2
X:135488089 ADGRG4 A>G	X	135488089	135488089	A	G	ADGRG4	c.8893A>G	NM_153834.4	NP_722576.3:p.(Asn2965Asp)	NC_000023.10:g.135488089A>G	(Likely) benign	1 lab	b8923597b2
20:62848475 MYT1 A>G	20	62848475	62848475	A	G	MYT1	c.1687A>G	NM_004535.3	NP_004526.1:p.(Asn563Asp)	NC_000020.10:g.62848475A>G	(Likely) benign	1 lab	b892f2ca74
17:40654855 ATP6V0A1 A>G	17	40654855	40654855	A	G	ATP6V0A1	c.2004+1533A>G	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40654855A>G	(Likely) benign	1 lab	b893cae0fc
9:95481761 BICD2 C>T	9	95481761	95481761	C	T	BICD2	c.1166G>A	NM_001003800.2	NP_001003800.1:p.(Arg389His)	NC_000009.11:g.95481761C>T	VUS	1 lab	b894e649ec
X:117773493 DOCK11 G>A	X	117773493	117773493	G	A	DOCK11	c.4097G>A	NM_144658.4	NP_653259.3:p.(Arg1366Gln)	NC_000023.10:g.117773493G>A	(Likely) benign	1 lab	b897c71422
10:72358672 PRF1 G>A	10	72358672	72358672	G	A	PRF1	c.805C>T	NM_001083116.3	NP_001076585.1:p.(His269Tyr)	NC_000010.10:g.72358672G>A	VUS	1 lab	b897d9c52d
11:61533551 MYRF C>T	11	61533551	61533551	C	T	MYRF	c.256C>T	NM_001127392.3	NP_001120864.1:p.(Arg86Cys)	NC_000011.9:g.61533551C>T	(Likely) benign	1 lab	b8984ad8e1
2:219924945 IHH G>A	2	219924945	219924945	G	A	IHH	c.245C>T	NM_002181.4	NP_002172.2:p.(Thr82Ile)	NC_000002.11:g.219924945G>A	VUS	1 lab	b8986f9c5a
12:49427503 KMT2D A>G	12	49427503	49427503	A	G	KMT2D	c.10985T>C	NM_003482.4	NP_003473.3:p.(Met3662Thr)	NC_000012.11:g.49427503A>G	VUS	1 lab	b898c27cbf
2:220081415 ABCB6 C>T	2	220081415	220081415	C	T	ABCB6	c.827G>A	NM_005689.4	NP_005680.1:p.(Arg276Gln)	NC_000002.11:g.220081415C>T	(Likely) benign	1 lab	b89a44bbcc
19:49671946 TRPM4 G>A	19	49671946	49671946	G	A	TRPM4	c.749G>A	NM_017636.4	NP_060106.2:p.(Arg250His)	NC_000019.9:g.49671946G>A	(Likely) benign	1 lab	b89c661d9b
7:98609085 TRRAP C>T	7	98609085	98609085	C	T	TRRAP	c.11264C>T	NM_001375524.1	NP_001362453.1:p.(Thr3755Ile)	NC_000007.13:g.98609085C>T	(Likely) benign	1 lab	b89c897d9f
17:48646332 CACNA1G G>A	17	48646332	48646332	G	A	CACNA1G	c.344G>A	NM_018896.5	NP_061496.2:p.(Arg115Gln)	NC_000017.10:g.48646332G>A	VUS	1 lab	b89ce1cda6
5:78181468 ARSB C>A	5	78181468	78181468	C	A	ARSB	c.1081G>T	NM_000046.5	NP_000037.2:p.(Ala361Ser)	NC_000005.9:g.78181468C>A	VUS	1 lab	b89e174384
17:48437356 XYLT2 C>A	17	48437356	48437356	C	A	XYLT2	c.2302C>A	NM_022167.4	NP_071450.2:p.(Pro768Thr)	NC_000017.10:g.48437356C>A	(Likely) benign	1 lab	b89f81ef91
11:17408961 KCNJ11 G>A	11	17408961	17408961	G	A	KCNJ11	c.678C>T	NM_000525.4	NP_000516.3:p.(Pro226=)	NC_000011.9:g.17408961G>A	(Likely) benign	1 lab	b89fed660a
12:102173994 GNPTAB G>T	12	102173994	102173994	G	T	GNPTAB	c.707C>A	NM_024312.5	NP_077288.2:p.(Thr236Lys)	NC_000012.11:g.102173994G>T	VUS	1 lab	b8a308493c
20:43034779 HNF4A G>A	20	43034779	43034779	G	A	HNF4A	c.197G>A	NM_000457.5	NP_000448.3:p.(Arg66Gln)	NC_000020.10:g.43034779G>A	VUS	1 lab	b8a3a32e47
19:22497268 ZNF729 G>A	19	22497268	22497268	G	A	ZNF729	c.1049G>A	NM_001242680.2	NP_001229609.1:p.(Arg350His)	NC_000019.9:g.22497268G>A	(Likely) benign	1 lab	b8a423530a
2:169764368 G6PC2 C>T	2	169764368	169764368	C	T	G6PC2	c.847C>T	NM_021176.3	NP_066999.1:p.(Arg283Ter)	NC_000002.11:g.169764368C>T	(Likely) benign	1 lab	b8a43c6cfd
15:57489974 TCF12 C>T	15	57489974	57489974	C	T	TCF12	c.530C>T	NM_207037.2	NP_996920.1:p.(Pro177Leu)	NC_000015.9:g.57489974C>T	(Likely) benign	1 lab	b8a4b96241
8:11614544 GATA4 G>A	8	11614544	11614544	G	A	GATA4	c.1101G>A	NM_001308093.3	NP_001295022.1:p.(Thr367=)	NC_000008.10:g.11614544G>A	(Likely) benign	1 lab	b8a5756a46
X:107148811 MID2 A>G	X	107148811	107148811	A	G	MID2	c.1028A>G	NM_012216.4	NP_036348.2:p.(Asn343Ser)	NC_000023.10:g.107148811A>G	VUS	1 lab	b8a69130bb
16:3708173 TRAP1 C>G	16	3708173	3708173	C	G	TRAP1	c.2072G>C	NM_016292.3	NP_057376.2:p.(Gly691Ala)	NC_000016.9:g.3708173C>G	(Likely) benign	1 lab	b8a78f4438
14:21883980 CHD8 CTCT>C	14	21883980	21883994	CTCT	C	CHD8	c.1800_1802del	NM_001170629.2	NP_001164100.1:p.(Glu601del)	NC_000014.8:g.21883992_21883994del	(Likely) benign	1 lab	b8a9d5d33a
11:64003474 VEGFB G>A	11	64003474	64003474	G	A	VEGFB	c.293G>A	NM_003377.5	NP_003368.1:p.(Arg98Gln)	NC_000011.9:g.64003474G>A	VUS	1 lab	b8aa2df7f3
3:129249797 RHO G>A	3	129249797	129249797	G	A	RHO	c.440G>A	NM_000539.3	NP_000530.1:p.(Arg147His)	NC_000003.11:g.129249797G>A	VUS	1 lab	b8aa91a359
7:128491525 FLNC C>T	7	128491525	128491525	C	T	FLNC	c.5685C>T	NM_001458.5	NP_001449.3:p.(Ala1895=)	NC_000007.13:g.128491525C>T	(Likely) benign	1 lab	b8abafa388
4:16188157 TAPT1 C>T	4	16188157	16188157	C	T	TAPT1	c.916+1G>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16188157C>T	VUS	1 lab	b8abf329ff
8:126088580 WASHC5 C>T	8	126088580	126088580	C	T	WASHC5	c.864+10G>A	NM_014846.4	NP_055661.3:p.?	NC_000008.10:g.126088580C>T	(Likely) benign	1 lab	b8aef3e4cb
12:121174794 ACADS G>C	12	121174794	121174794	G	C	ACADS	c.216G>C	NM_000017.4	NP_000008.1:p.(Lys72Asn)	NC_000012.11:g.121174794G>C	VUS	1 lab	b8b033054a
18:2923866 LPIN2 AGAC>A	18	2923866	2923870	AGAC	A	LPIN2	c.2088-10_2088-8del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2923868_2923870del	VUS	1 lab	b8b0e147db
5:79950727 DHFR G>C	5	79950727	79950727	G	C	DHFR	c.-419C>G	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950727G>C	(Likely) benign	1 lab	b8b11a2559
2:196728931 DNAH7 C>T	2	196728931	196728931	C	T	DNAH7	c.7448G>A	NM_018897.3	NP_061720.2:p.(Arg2483Gln)	NC_000002.11:g.196728931C>T	(Likely) benign	1 lab	b8b201788a
X:52674507 SSX7 C>T	X	52674507	52674507	C	T	SSX7	c.553G>A	NM_173358.2	NP_775494.1:p.(Glu185Lys)	NC_000023.10:g.52674507C>T	(Likely) benign	1 lab	b8b2a19b27
2:26396123 GAREM2 C>A	2	26396123	26396123	C	A	GAREM2	c.34C>A	NM_001168241.2	NP_001161713.1:p.(Arg12Ser)	NC_000002.11:g.26396123C>A	(Likely) benign	1 lab	b8b2c0ba9d
19:43575885 PSG2 C>A	19	43575885	43575885	C	A	PSG2	c.931G>T	NM_031246.4	NP_112536.2:p.(Glu311Ter)	NC_000019.9:g.43575885C>A	VUS	1 lab	b8b3050e0d
3:27525606 SLC4A7 A>T	3	27525606	27525606	A	T	SLC4A7	c.12T>A	NM_001321103.2	NP_001308032.1:p.(Asp4Glu)	NC_000003.11:g.27525606A>T	VUS	1 lab	b8b3e19bdc
5:134364714 PITX1 C>T	5	134364714	134364714	C	T	PITX1	c.700G>A	NM_002653.5	NP_002644.4:p.(Val234Met)	NC_000005.9:g.134364714C>T	VUS	1 lab	b8b3ff8a4b
11:66636360 PC A>T	11	66636360	66636360	A	T	PC	c.979T>A	NM_001040716.2	NP_001035806.1:p.(Ser327Thr)	NC_000011.9:g.66636360A>T	VUS	1 lab	b8b4a7c0cd
19:4510752 PLIN4 C>T	19	4510752	4510752	C	T	PLIN4	c.3220G>A	NM_001367868.2	NP_001354797.1:p.(Asp1074Asn)	NC_000019.9:g.4510752C>T	VUS	1 lab	b8b658bec3
13:102527643 FGF14 G>T	13	102527643	102527643	G	T	FGF14	c.197C>A	NM_004115.4	NP_004106.1:p.(Pro66His)	NC_000013.10:g.102527643G>T	VUS	1 lab	b8b734f2ba
20:31024966 ASXL1 A>G	20	31024966	31024966	A	G	ASXL1	c.4451A>G	NM_015338.6	NP_056153.2:p.(His1484Arg)	NC_000020.10:g.31024966A>G	VUS	1 lab	297bd3dd50
9:86593370 HNRNPK A>G	9	86593370	86593370	A	G	HNRNPK	c.-107-3T>C	NM_031263.4	NP_112553.1:p.?	NC_000009.11:g.86593370A>G	(Likely) benign	1 lab	b8ba0ce2b4
7:40134184 CDK13 A>G	7	40134184	40134184	A	G	CDK13	c.4144A>G	NM_003718.5	NP_003709.3:p.(Thr1382Ala)	NC_000007.13:g.40134184A>G	(Likely) benign	1 lab	b8ba431261
5:140595302 PCDHB13 A>G	5	140595302	140595302	A	G	PCDHB13	c.1607A>G	NM_018933.4	NP_061756.1:p.(His536Arg)	NC_000005.9:g.140595302A>G	VUS	1 lab	b8bcc4ee86
14:92905723 SLC24A4 C>G	14	92905723	92905723	C	G	SLC24A4	c.363C>G	NM_153646.4	NP_705932.2:p.(Phe121Leu)	NC_000014.8:g.92905723C>G	VUS	1 lab	b8bd45bf28
6:91233493 MAP3K7 T>C	6	91233493	91233493	T	C	MAP3K7	c.1366A>G	NM_145331.3	NP_663304.1:p.(Arg456Gly)	NC_000006.11:g.91233493T>C	VUS	1 lab	b8be4292b6
7:124561077 POT1 G>C	7	124561077	124561077	G	C	POT1	c.-226-5377C>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124561077G>C	(Likely) benign	1 lab	b8be6c4a28
2:189861916 COL3A1 G>A	2	189861916	189861916	G	A	COL3A1	c.1787G>A	NM_000090.4	NP_000081.2:p.(Arg596Gln)	NC_000002.11:g.189861916G>A	VUS	1 lab	b8bf48025c
3:183898012 AP2M1 C>G	3	183898012	183898012	C	G	AP2M1	c.396C>G	NM_004068.4	NP_004059.2:p.(Phe132Leu)	NC_000003.11:g.183898012C>G	VUS	1 lab	b8c2de9a68
17:3458072 TRPV3 T>C	17	3458072	3458072	T	C	TRPV3	c.73A>G	NM_001258205.2	NP_001245134.1:p.(Ile25Val)	NC_000017.10:g.3458072T>C	(Likely) benign	1 lab	297c41f982
7:94057152 COL1A2 C>T	7	94057152	94057152	C	T	COL1A2	c.3481C>T	NM_000089.4	NP_000080.2:p.(Arg1161Cys)	NC_000007.13:g.94057152C>T	VUS	1 lab	b8c3831459
2:74653678 RTKN C>T	2	74653678	74653678	C	T	RTKN	c.1384G>A	NM_001015055.2	NP_001015055.1:p.(Ala462Thr)	NC_000002.11:g.74653678C>T	VUS	1 lab	b8c3dd039b
6:51890409 PKHD1 G>A	6	51890409	51890409	G	A	PKHD1	c.4199C>T	NM_138694.4	NP_619639.3:p.(Ser1400Leu)	NC_000006.11:g.51890409G>A	VUS	1 lab	b8c3e1a613
5:37180173 CPLANE1 C>G	5	37180173	37180173	C	G	CPLANE1	c.5683G>C	NM_001384732.1	NP_001371661.1:p.(Glu1895Gln)	NC_000005.9:g.37180173C>G	(Likely) benign	1 lab	b8c3f40096
14:20844382 TEP1 G>A	14	20844382	20844382	G	A	TEP1	c.6130C>T	NM_007110.5	NP_009041.2:p.(Arg2044Trp)	NC_000014.8:g.20844382G>A	VUS	1 lab	b8c412e57a
1:168073944 GPR161 C>T	1	168073944	168073944	C	T	GPR161	c.145G>A	NM_001375883.1	NP_001362812.1:p.(Val49Met)	NC_000001.10:g.168073944C>T	VUS	1 lab	b8c48b5a5b
9:35793952 NPR2 G>A	9	35793952	35793952	G	A	NPR2	c.725G>A	NM_003995.4	NP_003986.2:p.(Arg242Lys)	NC_000009.11:g.35793952G>A	VUS	1 lab	b8c501e67f
17:78319965 RNF213 C>T	17	78319965	78319965	C	T	RNF213	c.7830C>T	NM_001256071.3	NP_001243000.2:p.(Asn2610=)	NC_000017.10:g.78319965C>T	(Likely) benign	1 lab	b8c5b83413
19:42861562 MEGF8 C>A	19	42861562	42861562	C	A	MEGF8	c.4837C>A	NM_001271938.2	NP_001258867.1:p.(Gln1613Lys)	NC_000019.9:g.42861562C>A	VUS	1 lab	b8c6ef5e27
X:84309380 APOOL A>G	X	84309380	84309380	A	G	APOOL	c.271A>G	NM_198450.6	NP_940852.3:p.(Met91Val)	NC_000023.10:g.84309380A>G	(Likely) benign	1 lab	b8c772e099
X:138897058 ATP11C T>C	X	138897058	138897058	T	C	ATP11C	c.405A>G	NM_001353812.2	NP_001340741.2:p.(Arg135=)	NC_000023.10:g.138897058T>C	(Likely) benign	1 lab	b8ca81de0d
5:149375524 TIGD6 G>A	5	149375524	149375524	G	A	TIGD6	c.388C>T	NM_030953.4	NP_112215.1:p.(Arg130Cys)	NC_000005.9:g.149375524G>A	(Likely) benign	1 lab	b8cb40deb6
20:16496299 KIF16B G>A	20	16496299	16496299	G	A	KIF16B	c.242C>T	NM_024704.5	NP_078980.3:p.(Thr81Ile)	NC_000020.10:g.16496299G>A	VUS	1 lab	b8cda09c5b
11:18422526 LDHA G>A	11	18422526	18422526	G	A	LDHA	c.387G>A	NM_005566.4	NP_005557.1:p.(Pro129=)	NC_000011.9:g.18422526G>A	(Likely) benign	1 lab	b8ce233a1e
5:180419924 BTNL3 G>A	5	180419924	180419924	G	A	BTNL3	c.161G>A	NM_197975.3	NP_932079.1:p.(Arg54Gln)	NC_000005.9:g.180419924G>A	(Likely) benign	1 lab	b8ced84e9c
X:114244109 IL13RA2 A>G	X	114244109	114244109	A	G	IL13RA2	c.827T>C	NM_000640.3	NP_000631.1:p.(Ile276Thr)	NC_000023.10:g.114244109A>G	(Likely) benign	1 lab	b8d36e7bcc
3:30686260 TGFBR2 C>A	3	30686260	30686260	C	A	TGFBR2	c.116C>A	NM_003242.6	NP_003233.4:p.(Thr39Asn)	NC_000003.11:g.30686260C>A	VUS	1 lab	b8d3a48db9
X:135730517 CD40LG T>C	X	135730517	135730517	T	C	CD40LG	c.110T>C	NM_000074.3	NP_000065.1:p.(Ile37Thr)	NC_000023.10:g.135730517T>C	VUS	1 lab	297c832a6b
7:151873543 KMT2C T>C	7	151873543	151873543	T	C	KMT2C	c.8995A>G	NM_170606.3	NP_733751.2:p.(Thr2999Ala)	NC_000007.13:g.151873543T>C	VUS	1 lab	b8d65cbfec
10:15713620 ITGA8 T>C	10	15713620	15713620	T	C	ITGA8	c.829A>G	NM_003638.3	NP_003629.2:p.(Thr277Ala)	NC_000010.10:g.15713620T>C	VUS	1 lab	b8d6ff0f3d
9:131117473 SLC27A4 GGTCCC>G	9	131117473	131117478	GGTCCC	G	SLC27A4	c.1462+5_1462+9del	NM_005094.4	NP_005085.2:p.?	NC_000009.11:g.131117474_131117478del	VUS	1 lab	b8d7915f08
11:119210562 C1QTNF5 C>G	11	119210562	119210562	C	G	C1QTNF5	c.215-4G>C	NM_001278431.2	NP_001265360.1:p.?	NC_000011.9:g.119210562C>G	(Likely) benign	1 lab	b8da06ac65
21:47850005 PCNT A>G	21	47850005	47850005	A	G	PCNT	c.7772A>G	NM_006031.6	NP_006022.3:p.(Lys2591Arg)	NC_000021.8:g.47850005A>G	(Likely) benign	1 lab	b8da083560
11:77830239 ALG8 G>A	11	77830239	77830239	G	A	ALG8	c.535C>T	NM_024079.5	NP_076984.2:p.(Arg179Ter)	NC_000011.9:g.77830239G>A	(Likely) pathogenic	1 lab	b8da13c0fb
7:92763127 SAMD9L C>T	7	92763127	92763127	C	T	SAMD9L	c.2158G>A	NM_152703.5	NP_689916.2:p.(Asp720Asn)	NC_000007.13:g.92763127C>T	VUS	1 lab	b8da65cecd
7:1513869 INTS1 C>T	7	1513869	1513869	C	T	INTS1	c.5764G>A	NM_001080453.3	NP_001073922.2:p.(Val1922Met)	NC_000007.13:g.1513869C>T	VUS	1 lab	b8dae535e4
4:1807187 FGFR3 C>T	4	1807187	1807187	C	T	FGFR3	c.1518C>T	NM_000142.5	NP_000133.1:p.(Ala506=)	NC_000004.11:g.1807187C>T	(Likely) benign	1 lab	b8ded94410
7:295924 FAM20C C>G	7	295924	295924	C	G	FAM20C	c.1182C>G	NM_020223.4	NP_064608.2:p.(Asp394Glu)	NC_000007.13:g.295924C>G	VUS	1 lab	b8dfb9adf2
6:29641025 ZFP57 T>A	6	29641025	29641025	T	A	ZFP57	c.863A>T	NM_001109809.5	NP_001103279.2:p.(Asp288Val)	NC_000006.11:g.29641025T>A	VUS	1 lab	b8dfca361f
7:5410977 TNRC18 G>A	7	5410977	5410977	G	A	TNRC18	c.3248C>T	NM_001080495.3	NP_001073964.2:p.(Pro1083Leu)	NC_000007.13:g.5410977G>A	VUS	1 lab	b8e05c436e
22:45944519 FBLN1 G>A	22	45944519	45944519	G	A	FBLN1	c.1468G>A	NM_006486.3	NP_006477.3:p.(Gly490Arg)	NC_000022.10:g.45944519G>A	VUS	1 lab	b8e0f4d287
X:135829708 ARHGEF6 T>G	X	135829708	135829708	T	G	ARHGEF6	c.293A>C	NM_004840.3	NP_004831.1:p.(Lys98Thr)	NC_000023.10:g.135829708T>G	VUS	1 lab	b8e22f594b
2:114220050 ZNG1B A>C	2	114220050	114220050	A	C	ZNG1B	c.641A>C	NM_172003.3	NP_742000.1:p.(Lys214Thr)	NC_000002.11:g.114220050A>C	VUS	1 lab	b8e49fff23
14:34243588 NPAS3 C>A	14	34243588	34243588	C	A	NPAS3	c.898C>A	NM_001164749.2	NP_001158221.1:p.(His300Asn)	NC_000014.8:g.34243588C>A	VUS	1 lab	b8e550894e
20:60897715 LAMA5 T>A	20	60897715	60897715	T	A	LAMA5	c.6164A>T	NM_005560.6	NP_005551.3:p.(Gln2055Leu)	NC_000020.10:g.60897715T>A	VUS	1 lab	b8e5517683
12:113837515 SDS C>T	12	113837515	113837515	C	T	SDS	c.-2G>A	NM_006843.3	NP_006834.2:p.?	NC_000012.11:g.113837515C>T	(Likely) benign	1 lab	b8e5a2ae8d
20:10030704 ANKEF1 T>A	20	10030704	10030704	T	A	ANKEF1	c.1487T>A	NM_022096.6	NP_071379.3:p.(Ile496Asn)	NC_000020.10:g.10030704T>A	VUS	1 lab	b8e5c37246
9:139925599 FUT7 G>A	9	139925599	139925599	G	A	FUT7	c.592C>T	NM_004479.4	NP_004470.1:p.(Arg198Trp)	NC_000009.11:g.139925599G>A	(Likely) benign	1 lab	b8e64c5e43
7:48494846 ABCA13 C>A	7	48494846	48494846	C	A	ABCA13	c.12778C>A	NM_152701.5	NP_689914.3:p.(Pro4260Thr)	NC_000007.13:g.48494846C>A	VUS	1 lab	b8e79d5440
13:32900742 BRCA2 T>G	13	32900742	32900742	T	G	BRCA2	c.623T>G	NM_000059.4	NP_000050.3:p.(Val208Gly)	NC_000013.10:g.32900742T>G	VUS	1 lab	b8ea7f6113
19:8455347 RAB11B C>T	19	8455347	8455347	C	T	RAB11B	c.40+7C>T	NM_004218.4	NP_004209.2:p.?	NC_000019.9:g.8455347C>T	(Likely) benign	1 lab	b8eaad4ff7
9:35735134 CREB3 G>A	9	35735134	35735134	G	A	CREB3	c.464G>A	NM_006368.5	NP_006359.3:p.(Arg155Gln)	NC_000009.11:g.35735134G>A	VUS	1 lab	b8ec6118eb
18:59830760 PIGN T>G	18	59830760	59830760	T	G	PIGN	c.-110+4A>C	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59830760T>G	VUS	1 lab	b8ee4cdde9
12:56082612 ITGA7 C>T	12	56082612	56082612	C	T	ITGA7	c.2958+16G>A	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56082612C>T	(Likely) benign	1 lab	b8eed42bfd
7:40134089 CDK13 T>A	7	40134089	40134089	T	A	CDK13	c.4049T>A	NM_003718.5	NP_003709.3:p.(Val1350Asp)	NC_000007.13:g.40134089T>A	VUS	1 lab	297e23d3d9
1:15689182 FHAD1 A>T	1	15689182	15689182	A	T	FHAD1	c.3007A>T	NM_001391957.1	NP_001378886.1:p.(Thr1003Ser)	NC_000001.10:g.15689182A>T	VUS	1 lab	b8f24fdbf6
20:61470101 COL9A3 CA>C	20	61470101	61470102	CA	C	COL9A3	c.1853del	NM_001853.4	NP_001844.3:p.(Gln618ArgfsTer55)	NC_000020.10:g.61470102del	VUS	1 lab	b8f4ab3172
4:73943251 ANKRD17 C>A	4	73943251	73943251	C	A	ANKRD17	c.7409-1G>T	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.73943251C>A	VUS	1 lab	b8f4c686cd
3:71008537 FOXP1 G>A	3	71008537	71008537	G	A	FOXP1	c.1895C>T	NM_001349338.3	NP_001336267.1:p.(Pro632Leu)	NC_000003.11:g.71008537G>A	VUS	1 lab	b8f59d294f
17:76810603 USP36 C>T	17	76810603	76810603	C	T	USP36	c.1055G>A	NM_001385174.1	NP_001372103.1:p.(Arg352His)	NC_000017.10:g.76810603C>T	VUS	1 lab	b8f63cdd7a
6:49408032 MMUT G>T	6	49408032	49408032	G	T	MMUT	c.1843C>A	NM_000255.4	NP_000246.2:p.(Pro615Thr)	NC_000006.11:g.49408032G>T	(Likely) pathogenic	1 lab	b8f6deef1d
X:9862916 SHROOM2 G>T	X	9862916	9862916	G	T	SHROOM2	c.968G>T	NM_001649.4	NP_001640.1:p.(Ser323Ile)	NC_000023.10:g.9862916G>T	VUS	1 lab	b8f6f23bb7
1:2523053 MMEL1 C>T	1	2523053	2523053	C	T	MMEL1	c.2183G>A	NM_033467.4	NP_258428.2:p.(Arg728Gln)	NC_000001.10:g.2523053C>T	VUS	1 lab	b8f8d5d95d
1:2435357 PLCH2 A>C	1	2435357	2435357	A	C	PLCH2	c.2960-4A>C	NM_014638.4	NP_055453.2:p.?	NC_000001.10:g.2435357A>C	(Likely) benign	1 lab	b8f9b0d842
16:10273908 GRIN2A A>G	16	10273908	10273908	A	G	GRIN2A	c.361T>C	NM_001134407.3	NP_001127879.1:p.(Phe121Leu)	NC_000016.9:g.10273908A>G	VUS	1 lab	b8f9e84961
11:55035852 TRIM48 A>C	11	55035852	55035852	A	C	TRIM48	c.578+4A>C	NM_024114.5	NP_077019.2:p.?	NC_000011.9:g.55035852A>C	(Likely) benign	1 lab	b8faaed7f8
16:89350956 ANKRD11 T>C	16	89350956	89350956	T	C	ANKRD11	c.1994A>G	NM_013275.6	NP_037407.4:p.(Lys665Arg)	NC_000016.9:g.89350956T>C	(Likely) benign	1 lab	b8fb1409e2
11:64332766 SLC22A11 G>A	11	64332766	64332766	G	A	SLC22A11	c.1015G>A	NM_018484.4	NP_060954.1:p.(Val339Met)	NC_000011.9:g.64332766G>A	(Likely) benign	1 lab	b8fb15da95
1:22216941 HSPG2 A>G	1	22216941	22216941	A	G	HSPG2	c.392T>C	NM_005529.7	NP_005520.4:p.(Val131Ala)	NC_000001.10:g.22216941A>G	(Likely) benign	1 lab	b8fc0b2d68
6:32063665 TNXB G>C	6	32063665	32063665	G	C	TNXB	c.1965C>G	NM_019105.8	NP_061978.6:p.(Asp655Glu)	NC_000006.11:g.32063665G>C	(Likely) benign	1 lab	2b61bddebf
9:139873511 PTGDS G>A	9	139873511	139873511	G	A	PTGDS	c.181G>A	NM_000954.6	NP_000945.3:p.(Ala61Thr)	NC_000009.11:g.139873511G>A	VUS	1 lab	b903d15323
1:2235362 SKI GC>G	1	2235362	2235365	GC	G	SKI	c.1298del	NM_003036.4	NP_003027.1:p.(Pro433LeufsTer25)	NC_000001.10:g.2235365del	VUS	1 lab	b90896d08b
5:80762793 SSBP2 A>T	5	80762793	80762793	A	T	SSBP2	c.662T>A	NM_001256732.3	NP_001243661.1:p.(Met221Lys)	NC_000005.9:g.80762793A>T	VUS	1 lab	b90957bde1
1:46512266 PIK3R3 G>A	1	46512266	46512266	G	A	PIK3R3	c.973C>T	NM_003629.4	NP_003620.3:p.(Arg325Cys)	NC_000001.10:g.46512266G>A	(Likely) benign	1 lab	b90a16e37f
1:11190688 MTOR AGTGGCGGCCGTG>A	1	11190688	11190708	AGTGGCGGCCGTG	A	MTOR	c.5499_5510del	NM_004958.4	NP_004949.1:p.(Thr1834_Thr1837del)	NC_000001.10:g.11190697_11190708del	VUS	1 lab	b90a47aaa9
22:43024185 CYB5R3 T>C	22	43024185	43024185	T	C	CYB5R3	c.436A>G	NM_000398.7	NP_000389.1:p.(Ser146Gly)	NC_000022.10:g.43024185T>C	VUS	1 lab	b90a8492e9
18:47566616 MYO5B C>A	18	47566616	47566616	C	A	MYO5B	c.207G>T	NM_001080467.3	NP_001073936.1:p.(Val69=)	NC_000018.9:g.47566616C>A	(Likely) benign	1 lab	2982da8b52
1:201047133 CACNA1S C>A	1	201047133	201047133	C	A	CACNA1S	c.1493G>T	NM_000069.3	NP_000060.2:p.(Arg498Leu)	NC_000001.10:g.201047133C>A	VUS	1 lab	b90b5a46aa
12:78516037 NAV3 G>A	12	78516037	78516037	G	A	NAV3	c.4067G>A	NM_001024383.2	NP_001019554.1:p.(Gly1356Asp)	NC_000012.11:g.78516037G>A	VUS	1 lab	b90bc3b17d
2:207174206 ZDBF2 G>C	2	207174206	207174206	G	C	ZDBF2	c.4954G>C	NM_020923.3	NP_065974.1:p.(Asp1652His)	NC_000002.11:g.207174206G>C	VUS	1 lab	b90c63ec28
4:13545891 NKX3-2 A>C	4	13545891	13545891	A	C	NKX3-2	c.148T>G	NM_001189.4	NP_001180.1:p.(Cys50Gly)	NC_000004.11:g.13545891A>C	(Likely) benign	1 lab	b90dd62b10
15:75685095 SIN3A G>A	15	75685095	75685095	G	A	SIN3A	c.2339C>T	NM_001145358.2	NP_001138830.1:p.(Ala780Val)	NC_000015.9:g.75685095G>A	(Likely) benign	1 lab	b90e4c1519
10:105201595 PDCD11 A>C	10	105201595	105201595	A	C	PDCD11	c.4570A>C	NM_014976.2	NP_055791.1:p.(Lys1524Gln)	NC_000010.10:g.105201595A>C	(Likely) benign	1 lab	b90eb9c0f0
16:2168190 PKD1 AC>A	16	2168190	2168191	AC	A	PKD1	c.802del	NM_001009944.3	NP_001009944.3:p.(Val268SerfsTer22)	NC_000016.9:g.2168191del	(Likely) pathogenic	1 lab	b9104ba09a
9:130438143 STXBP1 G>A	9	130438143	130438143	G	A	STXBP1	c.1171G>A	NM_001032221.6	NP_001027392.1:p.(Val391Ile)	NC_000009.11:g.130438143G>A	VUS	1 lab	b91116f3e1
1:144931591 PDE4DIP C>T	1	144931591	144931591	C	T	PDE4DIP	c.835-7770G>A	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144931591C>T	VUS	1 lab	b91119958c
5:149360616 SLC26A2 C>T	5	149360616	149360616	C	T	SLC26A2	c.1460C>T	NM_000112.4	NP_000103.2:p.(Thr487Ile)	NC_000005.9:g.149360616C>T	(Likely) benign	1 lab	b911af50a3
4:1803662 FGFR3 C>T	4	1803662	1803662	C	T	FGFR3	c.840C>T	NM_000142.5	NP_000133.1:p.(Asp280=)	NC_000004.11:g.1803662C>T	(Likely) benign	1 lab	b91242c86c
17:60088086 MED13 C>A	17	60088086	60088086	C	A	MED13	c.1792G>T	NM_005121.3	NP_005112.2:p.(Val598Leu)	NC_000017.10:g.60088086C>A	(Likely) benign	1 lab	b914366a02
2:10188123 KLF11 C>T	2	10188123	10188123	C	T	KLF11	c.659C>T	NM_003597.5	NP_003588.1:p.(Thr220Met)	NC_000002.11:g.10188123C>T	(Likely) benign	1 lab	b9149277aa
6:110948054 CDK19 A>C	6	110948054	110948054	A	C	CDK19	c.791-6T>G	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110948054A>C	VUS	1 lab	b91497a5ca
18:21407372 LAMA3 G>A	18	21407372	21407372	G	A	LAMA3	c.2764G>A	NM_198129.4	NP_937762.2:p.(Val922Met)	NC_000018.9:g.21407372G>A	(Likely) benign	1 lab	b916746dfc
5:149501606 PDGFRB G>A	5	149501606	149501606	G	A	PDGFRB	c.2184-3C>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149501606G>A	(Likely) benign	1 lab	b9183e9258
15:99459213 IGF1R G>A	15	99459213	99459213	G	A	IGF1R	c.1849G>A	NM_000875.5	NP_000866.1:p.(Val617Ile)	NC_000015.9:g.99459213G>A	(Likely) benign	1 lab	b918747bdc
4:113346846 ALPK1 T>G	4	113346846	113346846	T	G	ALPK1	c.561T>G	NM_025144.4	NP_079420.3:p.(Ser187Arg)	NC_000004.11:g.113346846T>G	(Likely) benign	1 lab	32c906f918
7:31014653 GHRHR G>A	7	31014653	31014653	G	A	GHRHR	c.880G>A	NM_000823.4	NP_000814.2:p.(Gly294Arg)	NC_000007.13:g.31014653G>A	VUS	1 lab	b9196defe5
4:155219720 DCHS2 C>T	4	155219720	155219720	C	T	DCHS2	c.5746G>A	NM_001358235.2	NP_001345164.1:p.(Val1916Ile)	NC_000004.11:g.155219720C>T	(Likely) benign	1 lab	b91b1838f1
5:58750900 PDE4D T>C	5	58750900	58750900	T	C	PDE4D	c.456-239106A>G	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58750900T>C	(Likely) benign	1 lab	b91ce608f9
8:70588847 SLCO5A1 G>T	8	70588847	70588847	G	T	SLCO5A1	c.2086C>A	NM_030958.3	NP_112220.2:p.(Leu696Ile)	NC_000008.10:g.70588847G>T	(Likely) benign	1 lab	b91fc32134
1:113235553 MOV10 T>G	1	113235553	113235553	T	G	MOV10	c.1140+2T>G	NM_001321324.2	NP_001308253.1:p.?	NC_000001.10:g.113235553T>G	VUS	1 lab	b9208b626b
X:148048313 AFF2 T>A	X	148048313	148048313	T	A	AFF2	c.2914-7T>A	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.148048313T>A	(Likely) benign	1 lab	b921e8b6ef
2:179460463 TTN A>G	2	179460463	179460463	A	G	TTN	c.57618T>C	NM_001267550.2	NP_001254479.2:p.(Phe19206=)	NC_000002.11:g.179460463A>G	(Likely) benign	1 lab	b922f56422
4:10445195 ZNF518B C>T	4	10445195	10445195	C	T	ZNF518B	c.2758G>A	NM_053042.3	NP_444270.2:p.(Ala920Thr)	NC_000004.11:g.10445195C>T	(Likely) benign	1 lab	b925026ada
20:34220234 CPNE1 G>A	20	34220234	34220234	G	A	CPNE1	c.383C>T	NM_152925.3	NP_690902.1:p.(Thr128Met)	NC_000020.10:g.34220234G>A	VUS	1 lab	b9271a99d2
3:123426842 MYLK C>T	3	123426842	123426842	C	T	MYLK	c.2149G>A	NM_053025.4	NP_444253.3:p.(Asp717Asn)	NC_000003.11:g.123426842C>T	VUS	1 lab	b92a9f4e13
19:19311597 RFXANK A>ATTT	19	19311597	19311624	A	ATTT	RFXANK	c.713-836_713-834dup	NM_003721.4	NP_003712.1:p.?	NC_000019.9:g.19311622_19311624dup	(Likely) benign	1 lab	b92d59b98b
1:46662984 POMGNT1 T>C	1	46662984	46662984	T	C	POMGNT1	c.121-228A>G	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46662984T>C	(Likely) benign	1 lab	b92d773779
16:68373431 PRMT7 CTT>C	16	68373431	68373434	CTT	C	PRMT7	c.713_714del	NM_019023.5	NP_061896.1:p.(Phe238TyrfsTer20)	NC_000016.9:g.68373433_68373434del	VUS	1 lab	b92f177468
7:70249940 AUTS2 C>A	7	70249940	70249940	C	A	AUTS2	c.2159C>A	NM_015570.4	NP_056385.1:p.(Pro720Gln)	NC_000007.13:g.70249940C>A	VUS	1 lab	b930a81d37
16:72046119 DHODH G>A	16	72046119	72046119	G	A	DHODH	c.192G>A	NM_001361.5	NP_001352.2:p.(Leu64=)	NC_000016.9:g.72046119G>A	VUS	1 lab	b93111fe12
2:48026441 MSH6 C>T	2	48026441	48026441	C	T	MSH6	c.1319C>T	NM_000179.3	NP_000170.1:p.(Ala440Val)	NC_000002.11:g.48026441C>T	(Likely) pathogenic	1 lab	b931a0633a
19:15297404 NOTCH3 T>C	19	15297404	15297404	T	C	NOTCH3	c.1951+285A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15297404T>C	(Likely) benign	1 lab	b931af7e91
2:131350455 CFC1 G>A	2	131350455	131350455	G	A	CFC1	c.667C>T	NM_032545.4	NP_115934.1:p.(Leu223Phe)	NC_000002.11:g.131350455G>A	VUS	1 lab	b9322e7c84
1:231133014 ARV1 G>A	1	231133014	231133014	G	A	ARV1	c.*4+1G>A	NM_022786.3	NP_073623.1:p.?	NC_000001.10:g.231133014G>A	VUS	1 lab	b9334dd9c8
11:113101937 NCAM1 G>A	11	113101937	113101937	G	A	NCAM1	c.1090-430G>A	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113101937G>A	VUS	1 lab	b93385705b
2:179613353 TTN C>A	2	179613353	179613353	C	A	TTN	c.11311+4498G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613353C>A	(Likely) benign	1 lab	b933a946f6
15:89390606 ACAN A>G	15	89390606	89390606	A	G	ACAN	c.1562A>G	NM_001369268.1	NP_001356197.1:p.(Tyr521Cys)	NC_000015.9:g.89390606A>G	VUS	1 lab	b9352b640c
X:18234643 BEND2 T>C	X	18234643	18234643	T	C	BEND2	c.236A>G	NM_153346.5	NP_699177.2:p.(Tyr79Cys)	NC_000023.10:g.18234643T>C	(Likely) benign	1 lab	b9359c9165
1:108690966 SLC25A24 A>G	1	108690966	108690966	A	G	SLC25A24	c.865T>C	NM_013386.5	NP_037518.3:p.(Phe289Leu)	NC_000001.10:g.108690966A>G	(Likely) benign	1 lab	b937a8c6d9
10:103454360 FBXW4 T>G	10	103454360	103454360	T	G	FBXW4	c.503A>C	NM_022039.4	NP_071322.2:p.(Glu168Ala)	NC_000010.10:g.103454360T>G	VUS	1 lab	b938587025
11:14797371 PDE3B C>G	11	14797371	14797371	C	G	PDE3B	c.1029+3838C>G	NM_000922.4	NP_000913.2:p.?	NC_000011.9:g.14797371C>G	(Likely) benign	1 lab	b938a93a49
16:88793468 PIEZO1 A>G	16	88793468	88793468	A	G	PIEZO1	c.3434T>C	NM_001142864.4	NP_001136336.2:p.(Val1145Ala)	NC_000016.9:g.88793468A>G	(Likely) benign	1 lab	b93aa4a40b
8:22067158 BMP1 G>C	8	22067158	22067158	G	C	BMP1	c.2776G>C	NM_006129.5	NP_006120.1:p.(Asp926His)	NC_000008.10:g.22067158G>C	VUS	1 lab	b93ac398be
X:148586672 IDS G>A	X	148586672	148586672	G	A	IDS	c.-5C>T	NM_000202.8	NP_000193.1:p.?	NC_000023.10:g.148586672G>A	VUS	1 lab	b93acb697d
15:67528374 AAGAB T>G	15	67528374	67528374	T	G	AAGAB	c.67A>C	NM_001271886.2	NP_001258815.1:p.(Ile23Leu)	NC_000015.9:g.67528374T>G	(Likely) benign	1 lab	2983e433ba
17:7797253 CHD3 G>A	17	7797253	7797253	G	A	CHD3	c.924G>A	NM_001005273.3	NP_001005273.1:p.(Ser308=)	NC_000017.10:g.7797253G>A	VUS	1 lab	b93b6bd4e1
21:47852052 PCNT AGGAGGAGCGC>A	21	47852052	47852067	AGGAGGAGCGC	A	PCNT	c.8680_8689del	NM_006031.6	NP_006022.3:p.(Ser2894ProfsTer24)	NC_000021.8:g.47852058_47852067del	(Likely) pathogenic	1 lab	b93f33292c
11:13732259 FAR1 G>A	11	13732259	13732259	G	A	FAR1	c.565G>A	NM_032228.6	NP_115604.1:p.(Val189Ile)	NC_000011.9:g.13732259G>A	VUS	1 lab	b9405a49de
19:39971519 TIMM50 C>G	19	39971519	39971519	C	G	TIMM50	c.26C>G	NM_001001563.5	NP_001001563.2:p.(Ser9Trp)	NC_000019.9:g.39971519C>G	(Likely) benign	1 lab	b940c7ef3a
15:58256129 ALDH1A2 C>T	15	58256129	58256129	C	T	ALDH1A2	c.1040G>A	NM_003888.4	NP_003879.2:p.(Arg347His)	NC_000015.9:g.58256129C>T	VUS	1 lab	b944032eb7
14:75508343 MLH3 T>A	14	75508343	75508343	T	A	MLH3	c.3440A>T	NM_001040108.2	NP_001035197.1:p.(Asn1147Ile)	NC_000014.8:g.75508343T>A	VUS	1 lab	b944629dda
15:64543764 CSNK1G1 C>T	15	64543764	64543764	C	T	CSNK1G1	c.239G>A	NM_022048.5	NP_071331.2:p.(Arg80His)	NC_000015.9:g.64543764C>T	VUS	1 lab	b9467469ca
1:93299193 RPL5 G>A	1	93299193	93299193	G	A	RPL5	c.165G>A	NM_000969.5	NP_000960.2:p.(Val55=)	NC_000001.10:g.93299193G>A	(Likely) benign	1 lab	b947e6d8cc
X:38664238 MID1IP1 G>T	X	38664238	38664238	G	T	MID1IP1	c.39G>T	NM_021242.6	NP_067065.1:p.(Ser13=)	NC_000023.10:g.38664238G>T	(Likely) benign	1 lab	b948295858
6:24781777 GMNN A>G	6	24781777	24781777	A	G	GMNN	c.202A>G	NM_015895.5	NP_056979.1:p.(Ile68Val)	NC_000006.11:g.24781777A>G	(Likely) benign	1 lab	b94866c79f
1:155327383 ASH1L T>C	1	155327383	155327383	T	C	ASH1L	c.6953A>G	NM_018489.3	NP_060959.2:p.(Lys2318Arg)	NC_000001.10:g.155327383T>C	VUS	1 lab	b948e77d40
15:99456396 IGF1R G>A	15	99456396	99456396	G	A	IGF1R	c.1713G>A	NM_000875.5	NP_000866.1:p.(Leu571=)	NC_000015.9:g.99456396G>A	(Likely) benign	1 lab	b949ea8ad4
6:117248539 RFX6 G>A	6	117248539	117248539	G	A	RFX6	c.2235G>A	NM_173560.4	NP_775831.2:p.(Ala745=)	NC_000006.11:g.117248539G>A	(Likely) benign	1 lab	b94a1a5ee4
6:169053655 SMOC2 C>G	6	169053655	169053655	C	G	SMOC2	c.1032C>G	NM_001166412.2	NP_001159884.1:p.(Ser344Arg)	NC_000006.11:g.169053655C>G	(Likely) benign	1 lab	b94ab95ea1
19:36395386 TYROBP G>A	19	36395386	36395386	G	A	TYROBP	c.*85C>T	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36395386G>A	VUS	1 lab	b94cbe99e6
1:22157781 HSPG2 A>T	1	22157781	22157781	A	T	HSPG2	c.11489T>A	NM_005529.7	NP_005520.4:p.(Ile3830Asn)	NC_000001.10:g.22157781A>T	VUS	1 lab	b94dbe030b
2:219677660 CYP27A1 T>G	2	219677660	219677660	T	G	CYP27A1	c.858T>G	NM_000784.4	NP_000775.1:p.(Ile286Met)	NC_000002.11:g.219677660T>G	VUS	1 lab	b94e65222c
7:155592779 SHH CATG>C	7	155592779	155592783	CATG	C	SHH	c.*2812_*2814del	NM_000193.4	NP_000184.1:p.?	NC_000007.13:g.155592781_155592783del	VUS	1 lab	b94ffc7175
15:100871168 ADAMTS17 C>T	15	100871168	100871168	C	T	ADAMTS17	c.542G>A	NM_139057.4	NP_620688.2:p.(Arg181Lys)	NC_000015.9:g.100871168C>T	(Likely) benign	1 lab	b9512583ff
2:26357809 RAB10 C>A	2	26357809	26357809	C	A	RAB10	c.522C>A	NM_016131.5	NP_057215.3:p.(Thr174=)	NC_000002.11:g.26357809C>A	VUS	1 lab	b952385f17
7:44806205 ZMIZ2 C>T	7	44806205	44806205	C	T	ZMIZ2	c.2598C>T	NM_031449.4	NP_113637.3:p.(Gly866=)	NC_000007.13:g.44806205C>T	VUS	1 lab	b9523ca11c
17:56811511 RAD51C T>C	17	56811511	56811511	T	C	RAD51C	c.1059T>C	NM_058216.3	NP_478123.1:p.(Ser353=)	NC_000017.10:g.56811511T>C	(Likely) benign	1 lab	b95346d952
16:30970087 SETD1A C>T	16	30970087	30970087	C	T	SETD1A	c.35C>T	NM_014712.3	NP_055527.1:p.(Ala12Val)	NC_000016.9:g.30970087C>T	VUS	1 lab	b95467b67f
6:51923326 PKHD1 G>C	6	51923326	51923326	G	C	PKHD1	c.1307C>G	NM_138694.4	NP_619639.3:p.(Thr436Ser)	NC_000006.11:g.51923326G>C	VUS	1 lab	b95548bf64
4:9245671 USP17L17 T>C	4	9245671	9245671	T	C	USP17L17	c.67T>C	NM_001256857.1	NP_001243786.1:p.(Ser23Pro)	NC_000004.11:g.9245671T>C	(Likely) benign	1 lab	b956e1e8c6
12:56092320 ITGA7 G>A	12	56092320	56092320	G	A	ITGA7	c.1039C>T	NM_002206.3	NP_002197.2:p.(Arg347Cys)	NC_000012.11:g.56092320G>A	VUS	1 lab	b9594db575
X:75648697 MAGEE1 G>A	X	75648697	75648697	G	A	MAGEE1	c.374G>A	NM_020932.3	NP_065983.1:p.(Cys125Tyr)	NC_000023.10:g.75648697G>A	(Likely) benign	1 lab	b959713489
19:11144817 SMARCA4 G>A	19	11144817	11144817	G	A	SMARCA4	c.3892G>A	NM_003072.5	NP_003063.2:p.(Asp1298Asn)	NC_000019.9:g.11144817G>A	(Likely) pathogenic	1 lab	b95a56aca3
12:94806325 CEP83 C>T	12	94806325	94806325	C	T	CEP83	c.-59G>A	NM_016122.3	NP_057206.2:p.?	NC_000012.11:g.94806325C>T	VUS	1 lab	b95ad2da8a
16:84214766 TAF1C A>G	16	84214766	84214766	A	G	TAF1C	c.1191T>C	NM_001243156.2	NP_001230085.2:p.(Leu397=)	NC_000016.9:g.84214766A>G	VUS	1 lab	b95c727eff
16:17228448 XYLT1 C>T	16	17228448	17228448	C	T	XYLT1	c.1909G>A	NM_022166.4	NP_071449.1:p.(Glu637Lys)	NC_000016.9:g.17228448C>T	VUS	1 lab	b95ca6aee1
17:7577138 TP53 C>T	17	7577138	7577138	C	T	TP53	c.800G>A	NM_000546.6	NP_000537.3:p.(Arg267Gln)	NC_000017.10:g.7577138C>T	VUS	1 lab	b95d53dd0f
4:1920270 NSD2 A>G	4	1920270	1920270	A	G	NSD2	c.1330A>G	NM_001042424.3	NP_001035889.1:p.(Thr444Ala)	NC_000004.11:g.1920270A>G	(Likely) benign	1 lab	b95d666f93
7:117250599 CFTR A>G	7	117250599	117250599	A	G	CFTR	c.3015A>G	NM_000492.4	NP_000483.3:p.(Ile1005Met)	NC_000007.13:g.117250599A>G	(Likely) benign	1 lab	2986baf756
2:179415795 TTN G>A	2	179415795	179415795	G	A	TTN	c.91463C>T	NM_001267550.2	NP_001254479.2:p.(Pro30488Leu)	NC_000002.11:g.179415795G>A	(Likely) benign	1 lab	b95f0d049f
11:118376704 KMT2A C>A	11	118376704	118376704	C	A	KMT2A	c.10097C>A	NM_001197104.2	NP_001184033.1:p.(Thr3366Asn)	NC_000011.9:g.118376704C>A	VUS	1 lab	b95f6c7c8a
X:150349253 GPR50 G>A	X	150349253	150349253	G	A	GPR50	c.1198G>A	NM_004224.3	NP_004215.2:p.(Ala400Thr)	NC_000023.10:g.150349253G>A	(Likely) benign	1 lab	b9619331a5
11:93527111 MED17 A>G	11	93527111	93527111	A	G	MED17	c.775-6A>G	NM_004268.5	NP_004259.3:p.?	NC_000011.9:g.93527111A>G	(Likely) benign	1 lab	b961c5795b
X:70521693 ITGB1BP2 C>T	X	70521693	70521693	C	T	ITGB1BP2	c.37C>T	NM_012278.4	NP_036410.1:p.(His13Tyr)	NC_000023.10:g.70521693C>T	VUS	1 lab	b9623945f2
6:152473213 SYNE1 G>A	6	152473213	152473213	G	A	SYNE1	c.24193C>T	NM_182961.4	NP_892006.3:p.(Arg8065Cys)	NC_000006.11:g.152473213G>A	VUS	1 lab	b9644a4b1b
15:99500542 IGF1R C>T	15	99500542	99500542	C	T	IGF1R	c.3975C>T	NM_000875.5	NP_000866.1:p.(Ala1325=)	NC_000015.9:g.99500542C>T	(Likely) benign	1 lab	b964a56d48
2:53995042 CHAC2 G>C	2	53995042	53995042	G	C	CHAC2	c.19G>C	NM_001008708.4	NP_001008708.1:p.(Gly7Arg)	NC_000002.11:g.53995042G>C	VUS	1 lab	b9657df84c
5:174156204 MSX2 C>T	5	174156204	174156204	C	T	MSX2	c.422C>T	NM_002449.5	NP_002440.2:p.(Thr141Ile)	NC_000005.9:g.174156204C>T	VUS	1 lab	b96667ac32
5:89985852 ADGRV1 T>C	5	89985852	89985852	T	C	ADGRV1	c.6665T>C	NM_032119.4	NP_115495.3:p.(Val2222Ala)	NC_000005.9:g.89985852T>C	VUS	1 lab	b966bd251a
1:237944950 RYR2 G>C	1	237944950	237944950	G	C	RYR2	c.11962+4G>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237944950G>C	VUS	1 lab	32ca8a2278
3:172166117 GHSR C>A	3	172166117	172166117	C	A	GHSR	c.87G>T	NM_198407.2	NP_940799.1:p.(Ser29=)	NC_000003.11:g.172166117C>A	(Likely) benign	1 lab	b96709da2c
X:49126954 PPP1R3F G>A	X	49126954	49126954	G	A	PPP1R3F	c.622G>A	NM_033215.5	NP_149992.3:p.(Ala208Thr)	NC_000023.10:g.49126954G>A	VUS	1 lab	b967449fb5
19:38897674 FAM98C C>A	19	38897674	38897674	C	A	FAM98C	c.875C>A	NM_174905.4	NP_777565.3:p.(Thr292Asn)	NC_000019.9:g.38897674C>A	VUS	1 lab	b96798848d
7:6077078 EIF2AK1 C>G	7	6077078	6077078	C	G	EIF2AK1	c.1309G>C	NM_014413.4	NP_055228.2:p.(Gly437Arg)	NC_000007.13:g.6077078C>G	VUS	1 lab	b9681fcb52
2:220423067 OBSL1 C>T	2	220423067	220423067	C	T	OBSL1	c.3341G>A	NM_015311.3	NP_056126.1:p.(Trp1114Ter)	NC_000002.11:g.220423067C>T	VUS	1 lab	b9682b9eec
7:152079802 KMT2C A>G	7	152079802	152079802	A	G	KMT2C	c.162-24042T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152079802A>G	(Likely) benign	1 lab	b96834390f
11:6643539 DCHS1 C>T	11	6643539	6643539	C	T	DCHS1	c.9368G>A	NM_003737.4	NP_003728.1:p.(Cys3123Tyr)	NC_000011.9:g.6643539C>T	VUS	1 lab	b96956c936
10:79741973 POLR3A C>T	10	79741973	79741973	C	T	POLR3A	c.3698G>A	NM_007055.4	NP_008986.2:p.(Arg1233Gln)	NC_000010.10:g.79741973C>T	VUS	1 lab	b96a9f9837
17:7495858 FXR2 G>A	17	7495858	7495858	G	A	FXR2	c.1789C>T	NM_004860.4	NP_004851.2:p.(Arg597Trp)	NC_000017.10:g.7495858G>A	VUS	1 lab	b96d7d5ba3
X:10180637 CLCN4 G>A	X	10180637	10180637	G	A	CLCN4	c.1520G>A	NM_001830.4	NP_001821.2:p.(Gly507Asp)	NC_000023.10:g.10180637G>A	(Likely) benign	1 lab	b97011e3b5
11:47436032 SLC39A13 C>T	11	47436032	47436032	C	T	SLC39A13	c.786+6C>T	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47436032C>T	(Likely) benign	1 lab	b970375162
11:17485156 ABCC8 C>T	11	17485156	17485156	C	T	ABCC8	c.413-5G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17485156C>T	VUS	1 lab	b9717eda82
1:176659471 PAPPA2 A>G	1	176659471	176659471	A	G	PAPPA2	c.2336A>G	NM_020318.3	NP_064714.2:p.(Lys779Arg)	NC_000001.10:g.176659471A>G	VUS	1 lab	b972d6a629
13:39438260 FREM2 C>T	13	39438260	39438260	C	T	FREM2	c.7652-152C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39438260C>T	(Likely) benign	1 lab	32cd90d2c9
3:9986057 CRELD1 G>T	3	9986057	9986057	G	T	CRELD1	c.1057G>T	NM_001077415.3	NP_001070883.2:p.(Gly353Cys)	NC_000003.11:g.9986057G>T	(Likely) benign	1 lab	b974acaea2
16:89349302 ANKRD11 CT>C	16	89349302	89349306	CT	C	ANKRD11	c.3647del	NM_013275.6	NP_037407.4:p.(Lys1216SerfsTer102)	NC_000016.9:g.89349306del	(Likely) pathogenic	1 lab	b974b89112
5:77423877 AP3B1 G>C	5	77423877	77423877	G	C	AP3B1	c.1945C>G	NM_003664.5	NP_003655.3:p.(Arg649Gly)	NC_000005.9:g.77423877G>C	VUS	1 lab	b9767ab7eb
17:42980166 DNAAF19 A>G	17	42980166	42980166	A	G	DNAAF19	c.710A>G	NM_213607.3	NP_998772.1:p.(Glu237Gly)	NC_000017.10:g.42980166A>G	(Likely) benign	1 lab	b977ad7bc5
9:139751852 MAMDC4 G>A	9	139751852	139751852	G	A	MAMDC4	c.2140G>A	NM_206920.3	NP_996803.2:p.(Gly714Ser)	NC_000009.11:g.139751852G>A	VUS	1 lab	b97810a877
X:73524432 ZCCHC13 A>C	X	73524432	73524432	A	C	ZCCHC13	c.331A>C	NM_203303.3	NP_976048.1:p.(Lys111Gln)	NC_000023.10:g.73524432A>C	VUS	1 lab	b978ef9f0c
1:228345907 GJC2 C>G	1	228345907	228345907	C	G	GJC2	c.448C>G	NM_020435.4	NP_065168.2:p.(Leu150Val)	NC_000001.10:g.228345907C>G	VUS	1 lab	b97ce31198
19:38991452 RYR1 T>A	19	38991452	38991452	T	A	RYR1	c.7445-9T>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38991452T>A	VUS	1 lab	ba5b432ace
3:46008472 FYCO1 A>ACCT	3	46008472	46008477	A	ACCT	FYCO1	c.2351_2353dup	NM_024513.4	NP_078789.2:p.(Glu784dup)	NC_000003.11:g.46008475_46008477dup	VUS	1 lab	b97de2734e
3:179287603 ACTL6A T>C	3	179287603	179287603	T	C	ACTL6A	c.26-9T>C	NM_004301.5	NP_004292.1:p.?	NC_000003.11:g.179287603T>C	(Likely) benign	1 lab	b97f123ef4
2:170030497 LRP2 G>A	2	170030497	170030497	G	A	LRP2	c.10946C>T	NM_004525.3	NP_004516.2:p.(Pro3649Leu)	NC_000002.11:g.170030497G>A	VUS	1 lab	b9800c0281
10:105797378 COL17A1 G>A	10	105797378	105797378	G	A	COL17A1	c.3208+16C>T	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105797378G>A	(Likely) benign	1 lab	29876abdcb
6:132203537 ENPP1 T>G	6	132203537	132203537	T	G	ENPP1	c.2153T>G	NM_006208.3	NP_006199.2:p.(Ile718Ser)	NC_000006.11:g.132203537T>G	VUS	1 lab	b98095197b
16:2164185 PKD1 G>A	16	2164185	2164185	G	A	PKD1	c.2839C>T	NM_001009944.3	NP_001009944.3:p.(Gln947Ter)	NC_000016.9:g.2164185G>A	(Likely) pathogenic	1 lab	b9813892d1
16:67645151 CTCF A>C	16	67645151	67645151	A	C	CTCF	c.416A>C	NM_006565.4	NP_006556.1:p.(Glu139Ala)	NC_000016.9:g.67645151A>C	(Likely) benign	1 lab	b9814cd8c4
16:23647318 PALB2 A>T	16	23647318	23647318	A	T	PALB2	c.549T>A	NM_024675.4	NP_078951.2:p.(Ser183Arg)	NC_000016.9:g.23647318A>T	VUS	1 lab	b981f8d918
16:16255324 ABCC6 C>T	16	16255324	16255324	C	T	ABCC6	c.3604G>A	NM_001171.6	NP_001162.5:p.(Val1202Met)	NC_000016.9:g.16255324C>T	VUS	1 lab	b9834115b1
7:90895973 FZD1 A>C	7	90895973	90895973	A	C	FZD1	c.1778A>C	NM_003505.2	NP_003496.1:p.(His593Pro)	NC_000007.13:g.90895973A>C	(Likely) benign	1 lab	b9843960d3
9:95040494 IARS1 C>G	9	95040494	95040494	C	G	IARS1	c.820G>C	NM_002161.6	NP_002152.2:p.(Glu274Gln)	NC_000009.11:g.95040494C>G	(Likely) benign	1 lab	b98490eedc
X:13762646 OFD1 T>C	X	13762646	13762646	T	C	OFD1	c.517+8T>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13762646T>C	VUS	1 lab	b984ed0c4e
3:66428191 SLC25A26 C>T	3	66428191	66428191	C	T	SLC25A26	c.785C>T	NM_001379210.1	NP_001366139.1:p.(Thr262Met)	NC_000003.11:g.66428191C>T	VUS	1 lab	b985760420
1:176563716 PAPPA2 C>T	1	176563716	176563716	C	T	PAPPA2	c.976C>T	NM_020318.3	NP_064714.2:p.(Arg326Cys)	NC_000001.10:g.176563716C>T	VUS	1 lab	b985f5feca
8:144997928 PLEC C>T	8	144997928	144997928	C	T	PLEC	c.6169G>A	NM_201384.3	NP_958786.1:p.(Ala2057Thr)	NC_000008.10:g.144997928C>T	(Likely) benign	1 lab	b986db7928
7:78131039 MAGI2 C>T	7	78131039	78131039	C	T	MAGI2	c.820G>A	NM_012301.4	NP_036433.2:p.(Ala274Thr)	NC_000007.13:g.78131039C>T	VUS	1 lab	b987301fb9
7:148544389 EZH2 A>G	7	148544389	148544389	A	G	EZH2	c.2T>C	NM_004456.5	NP_004447.2:p.(Met1?)	NC_000007.13:g.148544389A>G	VUS	1 lab	2989247312
2:179419463 TTN A>C	2	179419463	179419463	A	C	TTN	c.88611T>G	NM_001267550.2	NP_001254479.2:p.(Pro29537=)	NC_000002.11:g.179419463A>C	(Likely) benign	1 lab	b989939ec1
16:30748905 SRCAP C>T	16	30748905	30748905	C	T	SRCAP	c.7544C>T	NM_006662.3	NP_006653.2:p.(Pro2515Leu)	NC_000016.9:g.30748905C>T	(Likely) benign	1 lab	b989cc7192
3:180328194 TTC14 T>C	3	180328194	180328194	T	C	TTC14	c.2177T>C	NM_133462.4	NP_597719.1:p.(Val726Ala)	NC_000003.11:g.180328194T>C	VUS	1 lab	b98a6ddf8b
5:112173953 APC G>T	5	112173953	112173953	G	T	APC	c.2662G>T	NM_000038.6	NP_000029.2:p.(Ala888Ser)	NC_000005.9:g.112173953G>T	(Likely) benign	1 lab	b98b295c14
3:58135734 FLNB G>A	3	58135734	58135734	G	A	FLNB	c.6244+5G>A	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58135734G>A	VUS	1 lab	298d61560d
7:128829102 SMO CCGGGCCTGGGCCTCGGAGCGCGGG>C	7	128829102	128829130	CCGGGCCTGGGCCTCGGAGCGCGGG	C	SMO	c.115_138del	NM_005631.5	NP_005622.1:p.(Pro39_Gly46del)	NC_000007.13:g.128829107_128829130del	VUS	1 lab	b98cd132c9
16:88801212 PIEZO1 G>A	16	88801212	88801212	G	A	PIEZO1	c.1849-6C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88801212G>A	(Likely) benign	1 lab	b98d0e8490
17:74003216 EVPL C>T	17	74003216	74003216	C	T	EVPL	c.6070G>A	NM_001988.4	NP_001979.2:p.(Ala2024Thr)	NC_000017.10:g.74003216C>T	VUS	1 lab	b98d8ec46f
9:135116329 NTNG2 G>C	9	135116329	135116329	G	C	NTNG2	c.1255G>C	NM_032536.4	NP_115925.2:p.(Asp419His)	NC_000009.11:g.135116329G>C	VUS	1 lab	b98ddda9d5
18:55274466 NARS1 G>A	18	55274466	55274466	G	A	NARS1	c.901C>T	NM_004539.4	NP_004530.1:p.(Gln301Ter)	NC_000018.9:g.55274466G>A	VUS	1 lab	b98de3d120
6:142688819 ADGRG6 G>T	6	142688819	142688819	G	T	ADGRG6	c.217G>T	NM_198569.3	NP_940971.2:p.(Ala73Ser)	NC_000006.11:g.142688819G>T	VUS	1 lab	b98e4c4183
X:48054220 SSX5 A>T	X	48054220	48054220	A	T	SSX5	c.140T>A	NM_175723.2	NP_783729.1:p.(Ile47Asn)	NC_000023.10:g.48054220A>T	VUS	1 lab	b98ed3b97e
9:138590980 SOHLH1 G>A	9	138590980	138590980	G	A	SOHLH1	c.66-8C>T	NM_001101677.2	NP_001095147.2:p.?	NC_000009.11:g.138590980G>A	VUS	1 lab	b990ee9a92
19:12767484 MAN2B1 A>C	19	12767484	12767484	A	C	MAN2B1	c.1545T>G	NM_000528.4	NP_000519.2:p.(Tyr515Ter)	NC_000019.9:g.12767484A>C	(Likely) pathogenic	1 lab	b9925b271b
3:136323207 STAG1 C>T	3	136323207	136323207	C	T	STAG1	c.241G>A	NM_005862.3	NP_005853.2:p.(Glu81Lys)	NC_000003.11:g.136323207C>T	VUS	1 lab	b992b158c4
20:61443786 OGFR C>G	20	61443786	61443786	C	G	OGFR	c.819C>G	NM_007346.4	NP_031372.2:p.(Phe273Leu)	NC_000020.10:g.61443786C>G	VUS	1 lab	b9933f25d8
2:27464908 CAD G>A	2	27464908	27464908	G	A	CAD	c.6013G>A	NM_004341.5	NP_004332.2:p.(Glu2005Lys)	NC_000002.11:g.27464908G>A	VUS	1 lab	b993a43005
8:101932970 YWHAZ G>GAT	8	101932970	101932972	G	GAT	YWHAZ	c.687_688dup	NM_145690.3	NP_663723.1:p.(Ser230TyrfsTer44)	NC_000008.10:g.101932971_101932972dup	VUS	1 lab	b993b9da01
19:5693470 LONP1 C>T	19	5693470	5693470	C	T	LONP1	c.2542G>A	NM_004793.4	NP_004784.2:p.(Ala848Thr)	NC_000019.9:g.5693470C>T	VUS	1 lab	b99651c877
17:17700739 RAI1 G>A	17	17700739	17700739	G	A	RAI1	c.4477G>A	NM_030665.4	NP_109590.3:p.(Gly1493Ser)	NC_000017.10:g.17700739G>A	(Likely) benign	1 lab	b9974d0f22
19:36212302 KMT2B G>A	19	36212302	36212302	G	A	KMT2B	c.2053G>A	NM_014727.3	NP_055542.1:p.(Asp685Asn)	NC_000019.9:g.36212302G>A	(Likely) benign	1 lab	b999511699
5:45262529 HCN1 T>C	5	45262529	45262529	T	C	HCN1	c.2167A>G	NM_021072.4	NP_066550.2:p.(Thr723Ala)	NC_000005.9:g.45262529T>C	VUS	1 lab	b99b896359
15:67459159 SMAD3 G>A	15	67459159	67459159	G	A	SMAD3	c.575G>A	NM_005902.4	NP_005893.1:p.(Ser192Asn)	NC_000015.9:g.67459159G>A	VUS	1 lab	b99d77e56a
5:34937644 DNAJC21 C>T	5	34937644	34937644	C	T	DNAJC21	c.652C>T	NM_001012339.3	NP_001012339.2:p.(Gln218Ter)	NC_000005.9:g.34937644C>T	VUS	1 lab	b99dac1c90
1:152279716 FLG A>T	1	152279716	152279716	A	T	FLG	c.7646T>A	NM_002016.2	NP_002007.1:p.(Val2549Glu)	NC_000001.10:g.152279716A>T	(Likely) benign	1 lab	b99ea2f732
22:42610775 TCF20 T>TTGC	22	42610775	42610792	T	TTGC	TCF20	c.534_536dup	NM_001378418.1	NP_001365347.1:p.(Gln179dup)	NC_000022.10:g.42610790_42610792dup	(Likely) benign	1 lab	b9a0712273
5:140595947 PCDHB13 A>T	5	140595947	140595947	A	T	PCDHB13	c.2252A>T	NM_018933.4	NP_061756.1:p.(Tyr751Phe)	NC_000005.9:g.140595947A>T	VUS	1 lab	b9a2a32754
10:123260371 FGFR2 C>G	10	123260371	123260371	C	G	FGFR2	c.1530G>C	NM_000141.5	NP_000132.3:p.(Glu510Asp)	NC_000010.10:g.123260371C>G	(Likely) benign	1 lab	b9a2cd2429
7:66460341 SBDS G>C	7	66460341	66460341	G	C	SBDS	c.64C>G	NM_016038.4	NP_057122.2:p.(Arg22Gly)	NC_000007.13:g.66460341G>C	VUS	1 lab	b9a589bf8c
16:2153395 PKD1 C>T	16	2153395	2153395	C	T	PKD1	c.8663G>A	NM_001009944.2	NP_001009944.2:p.(Arg2888His)	NC_000016.9:g.2153395C>T	(Likely) benign	1 lab	33060d6ab9
17:7678085 DNAH2 G>A	17	7678085	7678085	G	A	DNAH2	c.4510G>A	NM_020877.5	NP_065928.2:p.(Asp1504Asn)	NC_000017.10:g.7678085G>A	(Likely) benign	1 lab	b9a6cc15aa
19:18893864 COMP C>T	19	18893864	18893864	C	T	COMP	c.2227G>A	NM_000095.3	NP_000086.2:p.(Asp743Asn)	NC_000019.9:g.18893864C>T	VUS	1 lab	b9a70260a8
1:156146546 SEMA4A C>T	1	156146546	156146546	C	T	SEMA4A	c.2044C>T	NM_022367.4	NP_071762.2:p.(Pro682Ser)	NC_000001.10:g.156146546C>T	VUS	1 lab	b9a9fc502c
22:50885758 SBF1 A>G	22	50885758	50885758	A	G	SBF1	c.5576T>C	NM_002972.4	NP_002963.2:p.(Phe1859Ser)	NC_000022.10:g.50885758A>G	VUS	1 lab	b9aa84bd3f
4:2833333 SH3BP2 TCTC>T	4	2833333	2833338	TCTC	T	SH3BP2	c.1280_1282del	NM_001122681.2	NP_001116153.1:p.(Ser427del)	NC_000004.11:g.2833336_2833338del	(Likely) benign	1 lab	b9ab77b979
7:151927109 KMT2C T>A	7	151927109	151927109	T	A	KMT2C	c.2875A>T	NM_170606.3	NP_733751.2:p.(Met959Leu)	NC_000007.13:g.151927109T>A	VUS	1 lab	b9adf7eb48
5:67522751 PIK3R1 C>T	5	67522751	67522751	C	T	PIK3R1	c.248C>T	NM_181523.3	NP_852664.1:p.(Ser83Leu)	NC_000005.9:g.67522751C>T	VUS	1 lab	b9ae28cc2f
7:83119432 SEMA3E C>T	7	83119432	83119432	C	T	SEMA3E	c.274G>A	NM_012431.3	NP_036563.1:p.(Glu92Lys)	NC_000007.13:g.83119432C>T	VUS	1 lab	b9ae550869
11:46895013 LRP4 G>A	11	46895013	46895013	G	A	LRP4	c.4361C>T	NM_002334.4	NP_002325.2:p.(Ala1454Val)	NC_000011.9:g.46895013G>A	(Likely) benign	1 lab	b9b036f72d
3:9486757 SETD5 C>T	3	9486757	9486757	C	T	SETD5	c.1213C>T	NM_001080517.3	NP_001073986.1:p.(His405Tyr)	NC_000003.11:g.9486757C>T	VUS	1 lab	b9b10f5c00
3:4741492 ITPR1 T>A	3	4741492	4741492	T	A	ITPR1	c.4408-5T>A	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4741492T>A	(Likely) benign	1 lab	b9b157e8f2
3:184074874 CLCN2 C>G	3	184074874	184074874	C	G	CLCN2	c.992G>C	NM_004366.6	NP_004357.3:p.(Ser331Thr)	NC_000003.11:g.184074874C>G	VUS	1 lab	b9b3161cb6
3:50388062 NPRL2 C>A	3	50388062	50388062	C	A	NPRL2	c.22G>T	NM_006545.5	NP_006536.3:p.(Glu8Ter)	NC_000003.11:g.50388062C>A	VUS	1 lab	b9f9e4b297
18:2707810 SMCHD1 T>C	18	2707810	2707810	T	C	SMCHD1	c.2152T>C	NM_015295.3	NP_056110.2:p.(Leu718=)	NC_000018.9:g.2707810T>C	(Likely) benign	1 lab	b9b3e215e7
2:152359293 NEB C>CTTTT	2	152359293	152359294	C	CTTTT	NEB	c.23928+13_23928+14insAAAA	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152359293_152359294insTTTT	(Likely) benign	1 lab	b9b54c026e
16:1569932 IFT140 C>T	16	1569932	1569932	C	T	IFT140	c.3990G>A	NM_014714.4	NP_055529.2:p.(Ala1330=)	NC_000016.9:g.1569932C>T	(Likely) benign	1 lab	b9b685b580
15:89385115 ACAN A>G	15	89385115	89385115	A	G	ACAN	c.757+17A>G	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89385115A>G	(Likely) benign	1 lab	b9b8fb3b4c
12:69044255 RAP1B ATTAC>A	12	69044255	69044261	ATTAC	A	RAP1B	c.126+10_126+13del	NM_001010942.3	NP_001010942.1:p.?	NC_000012.11:g.69044258_69044261del	(Likely) benign	1 lab	b9b8feb688
16:72827316 ZFHX3 C>T	16	72827316	72827316	C	T	ZFHX3	c.9265G>A	NM_006885.4	NP_008816.3:p.(Glu3089Lys)	NC_000016.9:g.72827316C>T	(Likely) benign	1 lab	b9b9fdf9f2
1:173526594 SLC9C2 T>C	1	173526594	173526594	T	C	SLC9C2	c.1100A>G	NM_178527.4	NP_848622.2:p.(Tyr367Cys)	NC_000001.10:g.173526594T>C	VUS	1 lab	b9ba850872
16:28913710 ATP2A1 G>T	16	28913710	28913710	G	T	ATP2A1	c.2524+3G>T	NM_004320.6	NP_004311.1:p.?	NC_000016.9:g.28913710G>T	(Likely) benign	1 lab	b9bb671c59
12:124846821 NCOR2 G>A	12	124846821	124846821	G	A	NCOR2	c.2951C>T	NM_006312.6	NP_006303.4:p.(Pro984Leu)	NC_000012.11:g.124846821G>A	(Likely) benign	1 lab	b9bb912e92
15:23002921 CYFIP1 AATG>A	15	23002921	23002928	AATG	A	CYFIP1	c.3648_3650del	NM_014608.6	NP_055423.1:p.(Asp1216del)	NC_000015.9:g.23002926_23002928del	VUS	1 lab	b9bf6da982
5:149460459 CSF1R G>A	5	149460459	149460459	G	A	CSF1R	c.178C>T	NM_001288705.3	NP_001275634.1:p.(Leu60=)	NC_000005.9:g.149460459G>A	(Likely) benign	1 lab	b9bfd041c0
7:151791365 GALNT11 C>T	7	151791365	151791365	C	T	GALNT11	c.53C>T	NM_022087.4	NP_071370.2:p.(Ala18Val)	NC_000007.13:g.151791365C>T	(Likely) benign	1 lab	b9c0978d78
7:37956001 SFRP4 G>A	7	37956001	37956001	G	A	SFRP4	c.139C>T	NM_003014.4	NP_003005.2:p.(His47Tyr)	NC_000007.13:g.37956001G>A	VUS	1 lab	b9c2add09d
X:45059998 DIPK2B G>C	X	45059998	45059998	G	C	DIPK2B	c.74C>G	NM_176819.4	NP_789789.2:p.(Ala25Gly)	NC_000023.10:g.45059998G>C	(Likely) benign	1 lab	b9c3f989cb
4:88973158 PKD2 A>C	4	88973158	88973158	A	C	PKD2	c.1564A>C	NM_000297.4	NP_000288.1:p.(Ile522Leu)	NC_000004.11:g.88973158A>C	VUS	1 lab	b9c43885df
11:118948287 VPS11 A>G	11	118948287	118948287	A	G	VPS11	c.1502A>G	NM_021729.6	NP_068375.3:p.(His501Arg)	NC_000011.9:g.118948287A>G	VUS	1 lab	b9c706d496
11:66631284 PC C>T	11	66631284	66631284	C	T	PC	c.1329G>A	NM_001040716.2	NP_001035806.1:p.(Met443Ile)	NC_000011.9:g.66631284C>T	VUS	1 lab	b9c782bacc
11:47463359 RAPSN A>ATCCCGGTGACCTCACC	11	47463359	47463378	A	ATCCCGGTGACCTCACC	RAPSN	c.789_789+15dup	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47463363_47463378dup	VUS	1 lab	b9c7b3a08b
3:178922321 PIK3CA G>C	3	178922321	178922321	G	C	PIK3CA	c.1090G>C	NM_006218.4	NP_006209.2:p.(Gly364Arg)	NC_000003.11:g.178922321G>C	(Likely) pathogenic	1 lab	2992412aac
21:47409579 COL6A1 C>A	21	47409579	47409579	C	A	COL6A1	c.903+13C>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47409579C>A	(Likely) benign	1 lab	b9c95bfdf2
1:40235516 BMP8B G>T	1	40235516	40235516	G	T	BMP8B	c.673+4464C>A	NM_001720.5	NP_001711.2:p.?	NC_000001.10:g.40235516G>T	VUS	1 lab	b9ce9a003c
4:980875 IDUA G>A	4	980875	980875	G	A	IDUA	c.3G>A	NM_000203.5	NP_000194.2:p.(Met1?)	NC_000004.11:g.980875G>A	(Likely) pathogenic	1 lab	baab7b25ce
16:88787052 PIEZO1 G>A	16	88787052	88787052	G	A	PIEZO1	c.5773C>T	NM_001142864.4	NP_001136336.2:p.(Arg1925Trp)	NC_000016.9:g.88787052G>A	VUS	1 lab	b9cf68721e
18:45395809 SMAD2 T>A	18	45395809	45395809	T	A	SMAD2	c.327-2A>T	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45395809T>A	VUS	1 lab	b9d147bef1
12:56493441 ERBB3 T>C	12	56493441	56493441	T	C	ERBB3	c.2849T>C	NM_001982.4	NP_001973.2:p.(Ile950Thr)	NC_000012.11:g.56493441T>C	VUS	1 lab	b9d2203a0b
2:220431774 OBSL1 C>T	2	220431774	220431774	C	T	OBSL1	c.1912G>A	NM_015311.3	NP_056126.1:p.(Asp638Asn)	NC_000002.11:g.220431774C>T	(Likely) benign	1 lab	b9d2c31140
X:154528226 CLIC2 A>G	X	154528226	154528226	A	G	CLIC2	c.168-3T>C	NM_001289.6	NP_001280.3:p.?	NC_000023.10:g.154528226A>G	(Likely) benign	1 lab	b9d8ed8013
17:48704053 CACNA1G A>G	17	48704053	48704053	A	G	CACNA1G	c.7075A>G	NM_018896.5	NP_061496.2:p.(Lys2359Glu)	NC_000017.10:g.48704053A>G	VUS	1 lab	b9d9e7425a
7:44191894 GCK G>A	7	44191894	44191894	G	A	GCK	c.339C>T	NM_000162.5	NP_000153.1:p.(Asp113=)	NC_000007.13:g.44191894G>A	(Likely) benign	1 lab	b9daded9a2
17:78177680 CARD14 G>A	17	78177680	78177680	G	A	CARD14	c.2279G>A	NM_024110.4	NP_077015.2:p.(Arg760His)	NC_000017.10:g.78177680G>A	(Likely) benign	1 lab	299252f2ec
2:166897980 SCN1A C>T	2	166897980	166897980	C	T	SCN1A	c.2177-1G>A	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897980C>T	VUS	1 lab	b9de3cf01e
11:46880752 LRP4 C>G	11	46880752	46880752	C	G	LRP4	c.5500G>C	NM_002334.4	NP_002325.2:p.(Gly1834Arg)	NC_000011.9:g.46880752C>G	(Likely) benign	1 lab	b9decc5b7c
X:135405374 ADGRG4 G>A	X	135405374	135405374	G	A	ADGRG4	c.508G>A	NM_153834.4	NP_722576.3:p.(Glu170Lys)	NC_000023.10:g.135405374G>A	VUS	1 lab	b9ded24da0
15:75648754 MAN2C1 T>C	15	75648754	75648754	T	C	MAN2C1	c.2774A>G	NM_006715.4	NP_006706.2:p.(Tyr925Cys)	NC_000015.9:g.75648754T>C	VUS	1 lab	b9dfb97c48
16:72831834 ZFHX3 C>T	16	72831834	72831834	C	T	ZFHX3	c.4747G>A	NM_006885.4	NP_008816.3:p.(Gly1583Ser)	NC_000016.9:g.72831834C>T	VUS	1 lab	b9e0b73063
2:166892739 SCN1A G>A	2	166892739	166892739	G	A	SCN1A	c.3248C>T	NM_001165963.4	NP_001159435.1:p.(Thr1083Ile)	NC_000002.11:g.166892739G>A	(Likely) benign	1 lab	b9e189e155
19:15272032 NOTCH3 GAC>G	19	15272032	15272036	GAC	G	NOTCH3	c.6405_6406del	NM_000435.3	NP_000426.2:p.(Leu2137GlyfsTer104)	NC_000019.9:g.15272035_15272036del	VUS	1 lab	b9e1b1e3b3
6:157099356 ARID1B A>G	6	157099356	157099356	A	G	ARID1B	c.542A>G	NM_001374828.1	NP_001361757.1:p.(His181Arg)	NC_000006.11:g.157099356A>G	(Likely) benign	1 lab	b9e40619f4
7:102665617 FBXL13 C>T	7	102665617	102665617	C	T	FBXL13	c.658G>A	NM_001394494.2	NP_001381423.1:p.(Ala220Thr)	NC_000007.13:g.102665617C>T	(Likely) benign	1 lab	b9e40fe719
2:70524576 TIMCC C>G	2	70524576	70524576	C	G	TIMCC	c.583G>C	NM_001329752.2	NP_001316681.1:p.(Asp195His)	NC_000002.11:g.70524576C>G	(Likely) benign	1 lab	b9e60849b9
11:77103553 PAK1 C>T	11	77103553	77103553	C	T	PAK1	c.13G>A	NM_002576.5	NP_002567.3:p.(Gly5Ser)	NC_000011.9:g.77103553C>T	VUS	1 lab	b9e60afbc4
4:108953513 HADH G>A	4	108953513	108953513	G	A	HADH	c.710-819G>A	NM_005327.7	NP_005318.6:p.?	NC_000004.11:g.108953513G>A	VUS	1 lab	b9e86318fd
4:155487045 FGB G>C	4	155487045	155487045	G	C	FGB	c.200G>C	NM_005141.5	NP_005132.2:p.(Ser67Thr)	NC_000004.11:g.155487045G>C	VUS	1 lab	b9ec2dabec
12:6442662 TNFRSF1A A>G	12	6442662	6442662	A	G	TNFRSF1A	c.343T>C	NM_001065.3	NP_001056.1:p.(Ser115Pro)	NC_000012.11:g.6442662A>G	(Likely) pathogenic	1 lab	2b6c0be6be
15:45435486 DUOX1 G>A	15	45435486	45435486	G	A	DUOX1	c.1921G>A	NM_175940.3	NP_787954.1:p.(Val641Met)	NC_000015.9:g.45435486G>A	VUS	1 lab	b9f0053bb4
14:23313633 MMP14 G>A	14	23313633	23313633	G	A	MMP14	c.1065G>A	NM_004995.4	NP_004986.1:p.(Met355Ile)	NC_000014.8:g.23313633G>A	(Likely) benign	1 lab	b9f124c5eb
7:139090468 LUC7L2 G>A	7	139090468	139090468	G	A	LUC7L2	c.445G>A	NM_016019.5	NP_057103.2:p.(Val149Met)	NC_000007.13:g.139090468G>A	VUS	1 lab	b9f286e0ba
20:43043177 HNF4A G>A	20	43043177	43043177	G	A	HNF4A	c.523G>A	NM_000457.5	NP_000448.3:p.(Asp175Asn)	NC_000020.10:g.43043177G>A	(Likely) pathogenic	1 lab	b9f3661aa3
X:153735798 FAM3A T>C	X	153735798	153735798	T	C	FAM3A	c.409A>G	NM_021806.4	NP_068578.2:p.(Ile137Val)	NC_000023.10:g.153735798T>C	(Likely) benign	1 lab	b9f5becbb1
X:48116720 SSX1 C>A	X	48116720	48116720	C	A	SSX1	c.44C>A	NM_005635.4	NP_005626.1:p.(Ala15Asp)	NC_000023.10:g.48116720C>A	(Likely) benign	1 lab	b9fb151a77
2:210846963 UNC80 T>C	2	210846963	210846963	T	C	UNC80	c.9179T>C	NM_001371986.1	NP_001358915.1:p.(Ile3060Thr)	NC_000002.11:g.210846963T>C	(Likely) benign	1 lab	b9fbfba597
1:1463103 ATAD3A C>G	1	1463103	1463103	C	G	ATAD3A	c.1366C>G	NM_001170535.3	NP_001164006.1:p.(Pro456Ala)	NC_000001.10:g.1463103C>G	VUS	1 lab	b9fc165d67
6:132168996 ENPP1 G>GTTGT	6	132168996	132168997	G	GTTGT	ENPP1	c.313+8_313+9insTTGT	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132168996_132168997insTTGT	(Likely) benign	1 lab	b9fc369377
12:116444186 MED13L T>C	12	116444186	116444186	T	C	MED13L	c.2269A>G	NM_015335.5	NP_056150.1:p.(Thr757Ala)	NC_000012.11:g.116444186T>C	(Likely) benign	1 lab	b9fd765397
16:1841981 IGFALS G>A	16	1841981	1841981	G	A	IGFALS	c.438C>T	NM_004970.3	NP_004961.1:p.(Pro146=)	NC_000016.9:g.1841981G>A	(Likely) benign	1 lab	b9fdd6c354
16:2169372 PKD1 A>G	16	2169372	2169372	A	G	PKD1	c.223T>C	NM_001009944.3	NP_001009944.3:p.(Ser75Pro)	NC_000016.9:g.2169372A>G	(Likely) pathogenic	1 lab	b9ff9dc0a6
17:75303204 SEPTIN9 C>T	17	75303204	75303204	C	T	SEPTIN9	c.-473-19C>T	NM_001113492.1	NP_001106964.1:p.?	NC_000017.10:g.75303204C>T	(Likely) benign	1 lab	2b75f0def4
19:54758878 LILRB5 G>A	19	54758878	54758878	G	A	LILRB5	c.975C>T	NM_001081442.3	NP_001074911.2:p.(Ala325=)	NC_000019.9:g.54758878G>A	(Likely) benign	1 lab	ba004a4766
1:3647602 TP73 C>G	1	3647602	3647602	C	G	TP73	c.1457C>G	NM_005427.4	NP_005418.1:p.(Pro486Arg)	NC_000001.10:g.3647602C>G	VUS	1 lab	ba016281ec
2:215645954 BARD1 T>C	2	215645954	215645954	T	C	BARD1	c.644A>G	NM_000465.4	NP_000456.2:p.(Asn215Ser)	NC_000002.11:g.215645954T>C	VUS	1 lab	ba01f37dc4
2:114004419 PAX8 C>T	2	114004419	114004419	C	T	PAX8	c.103G>A	NM_003466.4	NP_003457.1:p.(Val35Ile)	NC_000002.11:g.114004419C>T	VUS	1 lab	ba034bf0e7
18:33718326 ELP2 A>C	18	33718326	33718326	A	C	ELP2	c.382A>C	NM_001242875.3	NP_001229804.1:p.(Thr128Pro)	NC_000018.9:g.33718326A>C	(Likely) benign	1 lab	29975f432c
14:94046630 UNC79 G>A	14	94046630	94046630	G	A	UNC79	c.2569G>A	NM_001395159.1	NP_001382088.1:p.(Glu857Lys)	NC_000014.8:g.94046630G>A	VUS	1 lab	ba0641719f
22:51112856 SHANK3 GCGCCGC>G	22	51112856	51112881	GCGCCGC	G	SHANK3	c.34_39del	NM_001372044.2	NP_001358973.1:p.(Ala12_Ala13del)	NC_000022.10:g.51112876_51112881del	VUS	1 lab	ba0ba315e7
10:89623873 PTEN G>A	10	89623873	89623873	G	A	PTEN	c.-354G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623873G>A	VUS	1 lab	ba0c4e1894
13:101763504 NALCN C>T	13	101763504	101763504	C	T	NALCN	c.2266G>A	NM_052867.4	NP_443099.1:p.(Val756Met)	NC_000013.10:g.101763504C>T	VUS	1 lab	ba0dd2c6dc
4:1808545 FGFR3 C>T	4	1808545	1808545	C	T	FGFR3	c.2169-11C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808545C>T	(Likely) benign	1 lab	ba0f0d2041
7:21892176 DNAH11 G>C	7	21892176	21892176	G	C	DNAH11	c.10988G>C	NM_001277115.2	NP_001264044.1:p.(Ser3663Thr)	NC_000007.13:g.21892176G>C	(Likely) benign	1 lab	ba0f874a4e
19:39410778 SARS2 G>A	19	39410778	39410778	G	A	SARS2	c.601C>T	NM_017827.4	NP_060297.1:p.(Gln201Ter)	NC_000019.9:g.39410778G>A	(Likely) pathogenic	1 lab	ba10dae71a
1:35454473 ZMYM6 C>G	1	35454473	35454473	C	G	ZMYM6	c.2210G>C	NM_007167.4	NP_009098.3:p.(Arg737Thr)	NC_000001.10:g.35454473C>G	(Likely) benign	1 lab	ba147d9d26
2:208631951 FZD5 G>C	2	208631951	208631951	G	C	FZD5	c.1513C>G	NM_003468.4	NP_003459.2:p.(Leu505Val)	NC_000002.11:g.208631951G>C	(Likely) benign	1 lab	ba149282fa
12:121435391 HNF1A C>T	12	121435391	121435391	C	T	HNF1A	c.1424C>T	NM_000545.8	NP_000536.6:p.(Pro475Leu)	NC_000012.11:g.121435391C>T	(Likely) pathogenic	1 lab	ba16cc97b7
22:37887209 CARD10 G>A	22	37887209	37887209	G	A	CARD10	c.3087C>T	NM_014550.4	NP_055365.2:p.(Ser1029=)	NC_000022.10:g.37887209G>A	(Likely) benign	1 lab	330bad162c
1:154543837 CHRNB2 C>T	1	154543837	154543837	C	T	CHRNB2	c.538C>T	NM_000748.3	NP_000739.1:p.(Arg180Cys)	NC_000001.10:g.154543837C>T	VUS	1 lab	ba171ba33b
12:52967208 KRT74 G>T	12	52967208	52967208	G	T	KRT74	c.354C>A	NM_175053.4	NP_778223.2:p.(Asn118Lys)	NC_000012.11:g.52967208G>T	VUS	1 lab	ba179a595b
19:4552594 SEMA6B C>T	19	4552594	4552594	C	T	SEMA6B	c.829G>A	NM_032108.4	NP_115484.2:p.(Val277Met)	NC_000019.9:g.4552594C>T	VUS	1 lab	29984c0456
13:110895059 COL4A1 C>G	13	110895059	110895059	C	G	COL4A1	c.107G>C	NM_001845.6	NP_001836.3:p.(Cys36Ser)	NC_000013.10:g.110895059C>G	VUS	1 lab	ba19d150a2
X:123515036 TENM1 C>T	X	123515036	123515036	C	T	TENM1	c.7549G>A	NM_001163278.2	NP_001156750.1:p.(Gly2517Arg)	NC_000023.10:g.123515036C>T	VUS	1 lab	ba1b4593a5
10:133962970 JAKMIP3 G>A	10	133962970	133962970	G	A	JAKMIP3	c.1903G>A	NM_001323087.2	NP_001310016.1:p.(Gly635Arg)	NC_000010.10:g.133962970G>A	VUS	1 lab	ba1dd656bb
5:139936827 SRA1 G>C	5	139936827	139936827	G	C	SRA1	c.56C>G	NM_001035235.4	NP_001030312.3:p.(Pro19Arg)	NC_000005.9:g.139936827G>C	VUS	1 lab	ba1de2e755
10:81005593 ZMIZ1 T>C	10	81005593	81005593	T	C	ZMIZ1	c.280+29562T>C	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.81005593T>C	(Likely) benign	1 lab	ba1e8a0a6d
2:179616427 TTN A>G	2	179616427	179616427	A	G	TTN	c.11311+1424T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616427A>G	(Likely) benign	1 lab	ba1f2acc5b
16:88909118 GALNS C>T	16	88909118	88909118	C	T	GALNS	c.240G>A	NM_000512.5	NP_000503.1:p.(Ser80=)	NC_000016.9:g.88909118C>T	(Likely) benign	1 lab	ba1facaf1b
17:11797758 DNAH9 C>T	17	11797758	11797758	C	T	DNAH9	c.11351C>T	NM_001372.4	NP_001363.2:p.(Thr3784Met)	NC_000017.10:g.11797758C>T	(Likely) benign	1 lab	ba205cd98c
20:2797635 TMEM239 C>T	20	2797635	2797635	C	T	TMEM239	c.435C>T	NM_001167670.3	NP_001161142.1:p.(Gly145=)	NC_000020.10:g.2797635C>T	(Likely) benign	1 lab	ba208e4690
16:89266270 SLC22A31 C>CT	16	89266270	89266271	C	CT	SLC22A31	c.25-47dup	NM_001384763.1	NP_001371692.1:p.?	NC_000016.9:g.89266271dup	VUS	1 lab	ba21fa3186
12:80645849 OTOGL G>C	12	80645849	80645849	G	C	OTOGL	c.1160-7G>C	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80645849G>C	(Likely) benign	1 lab	ba23d18b63
1:200978603 KIF21B G>C	1	200978603	200978603	G	C	KIF21B	c.55C>G	NM_001252102.2	NP_001239031.1:p.(Leu19Val)	NC_000001.10:g.200978603G>C	VUS	1 lab	ba26160c96
5:7895863 MTRR G>A	5	7895863	7895863	G	A	MTRR	c.1574G>A	NM_002454.3	NP_002445.2:p.(Arg525Gln)	NC_000005.9:g.7895863G>A	VUS	1 lab	ba2833cdd2
8:144999454 PLEC G>A	8	144999454	144999454	G	A	PLEC	c.4643C>T	NM_201384.3	NP_958786.1:p.(Ala1548Val)	NC_000008.10:g.144999454G>A	VUS	1 lab	ba28f09ed3
14:68256219 ZFYVE26 G>A	14	68256219	68256219	G	A	ZFYVE26	c.2852C>T	NM_015346.4	NP_056161.2:p.(Thr951Met)	NC_000014.8:g.68256219G>A	(Likely) benign	1 lab	ba29f6c560
5:13776691 DNAH5 C>A	5	13776691	13776691	C	A	DNAH5	c.9230G>T	NM_001369.3	NP_001360.1:p.(Arg3077Leu)	NC_000005.9:g.13776691C>A	VUS	1 lab	ba2a80bde1
1:8790551 RERE G>A	1	8790551	8790551	G	A	RERE	c.-144-74051C>T	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8790551G>A	(Likely) benign	1 lab	ba2b02ac77
3:132319967 ACKR4 G>A	3	132319967	132319967	G	A	ACKR4	c.726G>A	NM_016557.4	NP_057641.1:p.(Leu242=)	NC_000003.11:g.132319967G>A	VUS	1 lab	ba2beedff0
9:37740118 FRMPD1 G>C	9	37740118	37740118	G	C	FRMPD1	c.1593G>C	NM_014907.3	NP_055722.2:p.(Glu531Asp)	NC_000009.11:g.37740118G>C	(Likely) benign	1 lab	ba2f58f88d
10:76789987 KAT6B A>AT	10	76789987	76789991	A	AT	KAT6B	c.5409dup	NM_012330.4	NP_036462.2:p.(Gly1804TrpfsTer22)	NC_000010.10:g.76789991dup	(Likely) pathogenic	1 lab	2998f4bbfc
5:79950727 DHFR G>GCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCC	5	79950727	79950750	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCC	DHFR	c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTGGGGGCGCTG	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGC	VUS	1 lab	ba3022bdc5
15:96877089 NR2F2 A>C	15	96877089	96877089	A	C	NR2F2	c.443-216A>C	NM_021005.4	NP_066285.1:p.?	NC_000015.9:g.96877089A>C	(Likely) benign	1 lab	ba3236d6b9
6:143095470 HIVEP2 C>T	6	143095470	143095470	C	T	HIVEP2	c.406G>A	NM_006734.4	NP_006725.3:p.(Glu136Lys)	NC_000006.11:g.143095470C>T	VUS	1 lab	ba371ffa44
3:53778809 CACNA1D G>C	3	53778809	53778809	G	C	CACNA1D	c.2961G>C	NM_001128840.3	NP_001122312.1:p.(Arg987Ser)	NC_000003.11:g.53778809G>C	VUS	1 lab	ba3758f212
1:12921263 PRAMEF2 G>A	1	12921263	12921263	G	A	PRAMEF2	c.1054G>A	NM_023014.1	NP_075390.1:p.(Glu352Lys)	NC_000001.10:g.12921263G>A	(Likely) benign	1 lab	ba37a0b930
22:42609824 TCF20 ATCTGCTT>A	22	42609824	42609834	ATCTGCTT	A	TCF20	c.1481_1487del	NM_001378418.1	NP_001365347.1:p.(Lys494IlefsTer16)	NC_000022.10:g.42609828_42609834del	VUS	1 lab	ba39d10401
1:147380216 GJA8 G>T	1	147380216	147380216	G	T	GJA8	c.134G>T	NM_005267.5	NP_005258.2:p.(Trp45Leu)	NC_000001.10:g.147380216G>T	(Likely) pathogenic	1 lab	ba3a967366
9:4117781 GLIS3 G>C	9	4117781	4117781	G	C	GLIS3	c.1697C>G	NM_001042413.2	NP_001035878.1:p.(Pro566Arg)	NC_000009.11:g.4117781G>C	VUS	1 lab	ba3ad83a30
11:77669808 INTS4 G>C	11	77669808	77669808	G	C	INTS4	c.781C>G	NM_033547.4	NP_291025.3:p.(Gln261Glu)	NC_000011.9:g.77669808G>C	VUS	1 lab	ba3b5466f9
12:107386740 CRY1 T>G	12	107386740	107386740	T	G	CRY1	c.1657+3A>C	NM_004075.5	NP_004066.1:p.?	NC_000012.11:g.107386740T>G	(Likely) benign	1 lab	ba3c363b0f
2:170387132 FASTKD1 G>GT	2	170387132	170387138	G	GT	FASTKD1	c.2406dup	NM_024622.6	NP_078898.3:p.(Arg803ThrfsTer17)	NC_000002.11:g.170387138dup	(Likely) benign	1 lab	ba3c3d13b4
21:39672294 KCNJ15 C>T	21	39672294	39672294	C	T	KCNJ15	c.1111C>T	NM_170736.3	NP_733932.1:p.(Gln371Ter)	NC_000021.8:g.39672294C>T	(Likely) benign	1 lab	ba3cab8b3a
22:24145489 SMARCB1 G>GACCA	22	24145489	24145493	G	GACCA	SMARCB1	c.509_512dup	NM_003073.5	NP_003064.2:p.(His171GlnfsTer3)	NC_000022.10:g.24145490_24145493dup	(Likely) pathogenic	1 lab	299a3a6038
6:79664677 PHIP G>A	6	79664677	79664677	G	A	PHIP	c.3907C>T	NM_017934.7	NP_060404.4:p.(His1303Tyr)	NC_000006.11:g.79664677G>A	(Likely) benign	1 lab	ba3e6f13ed
X:134983830 SAGE1 C>T	X	134983830	134983830	C	T	SAGE1	c.200C>T	NM_001381902.1	NP_001368831.1:p.(Ser67Leu)	NC_000023.10:g.134983830C>T	(Likely) benign	1 lab	ba3fe70164
4:175413228 HPGD T>C	4	175413228	175413228	T	C	HPGD	c.680A>G	NM_000860.6	NP_000851.2:p.(Asn227Ser)	NC_000004.11:g.175413228T>C	(Likely) benign	1 lab	ba40252cbd
2:29287933 PCARE G>A	2	29287933	29287933	G	A	PCARE	c.3669C>T	NM_001029883.3	NP_001025054.1:p.(Ser1223=)	NC_000002.11:g.29287933G>A	(Likely) benign	1 lab	ba42133450
20:61982203 CHRNA4 G>T	20	61982203	61982203	G	T	CHRNA4	c.560C>A	NM_000744.7	NP_000735.1:p.(Ala187Asp)	NC_000020.10:g.61982203G>T	VUS	1 lab	ba43aba7b6
8:55537437 RP1 C>G	8	55537437	55537437	C	G	RP1	c.995C>G	NM_006269.2	NP_006260.1:p.(Thr332Arg)	NC_000008.10:g.55537437C>G	VUS	1 lab	ba4a0f4f0a
7:151846465 KMT2C G>A	7	151846465	151846465	G	A	KMT2C	c.12775-228C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151846465G>A	(Likely) benign	1 lab	ba4bb1f0c9
15:28375706 HERC2 A>G	15	28375706	28375706	A	G	HERC2	c.12605T>C	NM_004667.6	NP_004658.3:p.(Val4202Ala)	NC_000015.9:g.28375706A>G	VUS	1 lab	ba4cb52ed7
16:67644745 CTCF G>A	16	67644745	67644745	G	A	CTCF	c.10G>A	NM_006565.4	NP_006556.1:p.(Asp4Asn)	NC_000016.9:g.67644745G>A	VUS	1 lab	ba4d121f53
15:73007634 BBS4 T>C	15	73007634	73007634	T	C	BBS4	c.223T>C	NM_033028.5	NP_149017.2:p.(Leu75=)	NC_000015.9:g.73007634T>C	(Likely) benign	1 lab	ba4d2b13a0
1:12010487 PLOD1 T>G	1	12010487	12010487	T	G	PLOD1	c.376T>G	NM_000302.4	NP_000293.2:p.(Phe126Val)	NC_000001.10:g.12010487T>G	VUS	1 lab	bace759700
7:106888856 COG5 T>C	7	106888856	106888856	T	C	COG5	c.1838A>G	NM_006348.5	NP_006339.4:p.(Gln613Arg)	NC_000007.13:g.106888856T>C	(Likely) benign	1 lab	ba50d84362
1:7797570 CAMTA1 G>A	1	7797570	7797570	G	A	CAMTA1	c.3598G>A	NM_015215.4	NP_056030.1:p.(Glu1200Lys)	NC_000001.10:g.7797570G>A	(Likely) benign	1 lab	299a648154
11:793526 SLC25A22 C>T	11	793526	793526	C	T	SLC25A22	c.293+3G>A	NM_001191061.2	NP_001177990.1:p.?	NC_000011.9:g.793526C>T	(Likely) benign	1 lab	ba526207d9
19:50730167 MYH14 T>C	19	50730167	50730167	T	C	MYH14	c.818T>C	NM_001145809.2	NP_001139281.1:p.(Phe273Ser)	NC_000019.9:g.50730167T>C	(Likely) benign	1 lab	ba527e976a
1:2237633 SKI C>T	1	2237633	2237633	C	T	SKI	c.1942C>T	NM_003036.4	NP_003027.1:p.(Arg648Trp)	NC_000001.10:g.2237633C>T	VUS	1 lab	ba5344dc24
2:145156550 ZEB2 G>C	2	145156550	145156550	G	C	ZEB2	c.2204C>G	NM_014795.4	NP_055610.1:p.(Pro735Arg)	NC_000002.11:g.145156550G>C	VUS	1 lab	ba55a38478
6:35210477 SCUBE3 G>A	6	35210477	35210477	G	A	SCUBE3	c.1613G>A	NM_152753.4	NP_689966.2:p.(Arg538Gln)	NC_000006.11:g.35210477G>A	VUS	1 lab	ba572f26c5
1:32256302 SPOCD1 C>T	1	32256302	32256302	C	T	SPOCD1	c.3553G>A	NM_144569.7	NP_653170.3:p.(Ala1185Thr)	NC_000001.10:g.32256302C>T	(Likely) benign	1 lab	ba57d1594e
13:20797370 GJB6 C>T	13	20797370	20797370	C	T	GJB6	c.250G>A	NM_001110219.3	NP_001103689.1:p.(Val84Ile)	NC_000013.10:g.20797370C>T	VUS	1 lab	ba58ee4099
3:15478079 EAF1 C>G	3	15478079	15478079	C	G	EAF1	c.757C>G	NM_033083.7	NP_149074.3:p.(Leu253Val)	NC_000003.11:g.15478079C>G	VUS	1 lab	ba59e31a3c
X:51486964 GSPT2 C>A	X	51486964	51486964	C	A	GSPT2	c.242C>A	NM_018094.5	NP_060564.2:p.(Thr81Asn)	NC_000023.10:g.51486964C>A	VUS	1 lab	ba5a0aa17c
16:20803355 ACSM3 G>A	16	20803355	20803355	G	A	ACSM3	c.1358G>A	NM_005622.4	NP_005613.2:p.(Arg453Gln)	NC_000016.9:g.20803355G>A	VUS	1 lab	ba5a84aa3c
17:42991202 GFAP A>G	17	42991202	42991202	A	G	GFAP	c.523-11T>C	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991202A>G	(Likely) benign	1 lab	ba5a959f1f
1:38288395 MTF1 A>G	1	38288395	38288395	A	G	MTF1	c.1172-7T>C	NM_005955.3	NP_005946.2:p.?	NC_000001.10:g.38288395A>G	(Likely) benign	1 lab	ba5be1d03f
5:151231091 GLRA1 G>T	5	151231091	151231091	G	T	GLRA1	c.772C>A	NM_000171.4	NP_000162.2:p.(Pro258Thr)	NC_000005.9:g.151231091G>T	VUS	1 lab	ba5cc3d637
11:1016835 MUC6 A>G	11	1016835	1016835	A	G	MUC6	c.5966T>C	NM_005961.3	NP_005952.2:p.(Phe1989Ser)	NC_000011.9:g.1016835A>G	VUS	1 lab	ba5de0fdf0
X:47086248 CDK16 C>T	X	47086248	47086248	C	T	CDK16	c.1075C>T	NM_006201.5	NP_006192.1:p.(Arg359Cys)	NC_000023.10:g.47086248C>T	(Likely) benign	1 lab	ba6125854e
X:119500449 ATP1B4 G>A	X	119500449	119500449	G	A	ATP1B4	c.133G>A	NM_001142447.3	NP_001135919.1:p.(Val45Met)	NC_000023.10:g.119500449G>A	VUS	1 lab	ba615bef92
22:30921695 SEC14L6 T>C	22	30921695	30921695	T	C	SEC14L6	c.814A>G	NM_001193336.4	NP_001180265.2:p.(Lys272Glu)	NC_000022.10:g.30921695T>C	VUS	1 lab	ba617d4e27
3:178952019 PIK3CA C>G	3	178952019	178952019	C	G	PIK3CA	c.3074C>G	NM_006218.4	NP_006209.2:p.(Thr1025Ser)	NC_000003.11:g.178952019C>G	(Likely) pathogenic	1 lab	ba6417a04d
11:44289135 ALX4 C>T	11	44289135	44289135	C	T	ALX4	c.815G>A	NM_021926.4	NP_068745.2:p.(Arg272Gln)	NC_000011.9:g.44289135C>T	VUS	1 lab	ba645fd5f1
13:95818628 ABCC4 T>C	13	95818628	95818628	T	C	ABCC4	c.1825-7A>G	NM_005845.5	NP_005836.2:p.?	NC_000013.10:g.95818628T>C	(Likely) benign	1 lab	ba647214d2
X:18802071 PPEF1 A>G	X	18802071	18802071	A	G	PPEF1	c.817A>G	NM_001377996.1	NP_001364925.1:p.(Ile273Val)	NC_000023.10:g.18802071A>G	VUS	1 lab	ba65bf5d92
16:70866782 HYDIN C>G	16	70866782	70866782	C	G	HYDIN	c.13868G>C	NM_001270974.2	NP_001257903.1:p.(Gly4623Ala)	NC_000016.9:g.70866782C>G	VUS	1 lab	ba669b5fd5
17:79990878 RAC3 G>A	17	79990878	79990878	G	A	RAC3	c.281G>A	NM_005052.3	NP_005043.1:p.(Arg94His)	NC_000017.10:g.79990878G>A	VUS	1 lab	ba66a21bb2
10:88476146 LDB3 T>C	10	88476146	88476146	T	C	LDB3	c.1294T>C	NM_007078.3	NP_009009.1:p.(Ser432Pro)	NC_000010.10:g.88476146T>C	(Likely) benign	1 lab	ba67567013
1:175334216 TNR C>G	1	175334216	175334216	C	G	TNR	c.2517G>C	NM_003285.3	NP_003276.3:p.(Glu839Asp)	NC_000001.10:g.175334216C>G	VUS	1 lab	29a262419a
2:230656753 TRIP12 A>ACAT	2	230656753	230656756	A	ACAT	TRIP12	c.4241_4243dup	NM_001348323.3	NP_001335252.1:p.(Asn1414_Val1415insAsp)	NC_000002.11:g.230656754_230656756dup	VUS	1 lab	ba681fb6c0
2:238277704 COL6A3 T>C	2	238277704	238277704	T	C	COL6A3	c.4402A>G	NM_004369.4	NP_004360.2:p.(Ile1468Val)	NC_000002.11:g.238277704T>C	VUS	1 lab	ba689d302e
15:66787688 SNAPC5 C>A	15	66787688	66787688	C	A	SNAPC5	c.160G>T	NM_001329615.2	NP_001316544.1:p.(Val54Leu)	NC_000015.9:g.66787688C>A	VUS	1 lab	ba69a1651c
1:40668236 RLF T>C	1	40668236	40668236	T	C	RLF	c.760T>C	NM_012421.4	NP_036553.2:p.(Tyr254His)	NC_000001.10:g.40668236T>C	VUS	1 lab	ba69b90a1b
2:143742657 KYNU G>A	2	143742657	143742657	G	A	KYNU	c.734G>A	NM_003937.3	NP_003928.1:p.(Cys245Tyr)	NC_000002.11:g.143742657G>A	VUS	1 lab	ba6abb2a44
5:31799444 PDZD2 C>T	5	31799444	31799444	C	T	PDZD2	c.89C>T	NM_178140.4	NP_835260.2:p.(Pro30Leu)	NC_000005.9:g.31799444C>T	VUS	1 lab	ba6b7bc772
7:1785215 ELFN1 C>T	7	1785215	1785215	C	T	ELFN1	c.983C>T	NM_001128636.4	NP_001122108.1:p.(Ser328Leu)	NC_000007.13:g.1785215C>T	VUS	1 lab	ba6c994c3d
20:2819735 PCED1A A>AC	20	2819735	2819743	A	AC	PCED1A	c.205-8dup	NM_022760.6	NP_073597.2:p.?	NC_000020.10:g.2819743dup	(Likely) benign	1 lab	ba6cd25ff3
2:113890345 IL1RN G>T	2	113890345	113890345	G	T	IL1RN	c.431G>T	NM_173842.3	NP_776214.1:p.(Trp144Leu)	NC_000002.11:g.113890345G>T	VUS	1 lab	ba6d5518ea
5:127710374 FBN2 C>T	5	127710374	127710374	C	T	FBN2	c.2042G>A	NM_001999.4	NP_001990.2:p.(Arg681His)	NC_000005.9:g.127710374C>T	(Likely) benign	1 lab	ba6db131db
11:9853851 SBF2 C>T	11	9853851	9853851	C	T	SBF2	c.3572G>A	NM_030962.4	NP_112224.1:p.(Gly1191Asp)	NC_000011.9:g.9853851C>T	(Likely) benign	1 lab	ba6dd3fe46
8:17883148 PCM1 TGA>T	8	17883148	17883152	TGA	T	PCM1	c.6033_6034del	NM_006197.4	NP_006188.4:p.(Glu2011AspfsTer6)	NC_000008.10:g.17883151_17883152del	VUS	1 lab	ba6e059c76
3:119120879 ARHGAP31 C>G	3	119120879	119120879	C	G	ARHGAP31	c.1280C>G	NM_020754.4	NP_065805.2:p.(Pro427Arg)	NC_000003.11:g.119120879C>G	(Likely) benign	1 lab	ba6faec69c
11:108138049 ATM G>A	11	108138049	108138049	G	A	ATM	c.2618G>A	NM_000051.4	NP_000042.3:p.(Gly873Glu)	NC_000011.9:g.108138049G>A	VUS	1 lab	ba70cb34ac
15:89401134 ACAN T>C	15	89401134	89401134	T	C	ACAN	c.5318T>C	NM_001369268.1	NP_001356197.1:p.(Leu1773Pro)	NC_000015.9:g.89401134T>C	(Likely) benign	1 lab	ba70f5e776
1:103491776 COL11A1 G>A	1	103491776	103491776	G	A	COL11A1	c.893C>T	NM_001854.4	NP_001845.3:p.(Thr298Met)	NC_000001.10:g.103491776G>A	VUS	1 lab	ba711a56e2
3:52282677 PPM1M G>A	3	52282677	52282677	G	A	PPM1M	c.939G>A	NM_144641.4	NP_653242.3:p.(Ser313=)	NC_000003.11:g.52282677G>A	VUS	1 lab	ba754596e7
3:440801 CHL1 G>T	3	440801	440801	G	T	CHL1	c.3355G>T	NM_006614.4	NP_006605.2:p.(Val1119Leu)	NC_000003.11:g.440801G>T	VUS	1 lab	ba75f9521e
5:58928323 PDE4D G>A	5	58928323	58928323	G	A	PDE4D	c.455+260672C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58928323G>A	(Likely) benign	1 lab	ba7626b00e
8:38297827 FGFR1 C>T	8	38297827	38297827	C	T	FGFR1	c.92-10361G>A	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38297827C>T	(Likely) benign	1 lab	ba7828cc3b
18:28648922 DSC2 C>T	18	28648922	28648922	C	T	DSC2	c.2446G>A	NM_004949.5	NP_004940.1:p.(Val816Met)	NC_000018.9:g.28648922C>T	VUS	1 lab	29a47708e3
6:100838950 SIM1 C>T	6	100838950	100838950	C	T	SIM1	c.1588G>A	NM_005068.3	NP_005059.2:p.(Glu530Lys)	NC_000006.11:g.100838950C>T	VUS	1 lab	ba7a729fa2
15:42145167 SPTBN5 C>T	15	42145167	42145167	C	T	SPTBN5	c.10202G>A	NM_016642.4	NP_057726.4:p.(Arg3401Gln)	NC_000015.9:g.42145167C>T	VUS	1 lab	ba7b8b3874
12:32873645 DNM1L G>A	12	32873645	32873645	G	A	DNM1L	c.788G>A	NM_012062.5	NP_036192.2:p.(Arg263His)	NC_000012.11:g.32873645G>A	VUS	1 lab	ba7ca81190
4:129864275 SCLT1 C>T	4	129864275	129864275	C	T	SCLT1	c.1508G>A	NM_144643.4	NP_653244.2:p.(Arg503Lys)	NC_000004.11:g.129864275C>T	(Likely) benign	1 lab	ba7ebaa039
6:116720400 DSE G>C	6	116720400	116720400	G	C	DSE	c.-14G>C	NM_013352.4	NP_037484.1:p.?	NC_000006.11:g.116720400G>C	VUS	1 lab	ba83924855
12:110012691 MVK G>A	12	110012691	110012691	G	A	MVK	c.64G>A	NM_000431.2	NP_000422.1:p.(Val22Met)	NC_000012.11:g.110012691G>A	VUS	1 lab	2b799cea05
1:1451415 ATAD3A C>G	1	1451415	1451415	C	G	ATAD3A	c.229C>G	NM_001170535.3	NP_001164006.1:p.(Leu77Val)	NC_000001.10:g.1451415C>G	(Likely) pathogenic	1 lab	ba8660efdc
10:12143077 DHTKD1 G>A	10	12143077	12143077	G	A	DHTKD1	c.1793G>A	NM_018706.7	NP_061176.4:p.(Arg598His)	NC_000010.10:g.12143077G>A	VUS	1 lab	ba883256c9
6:35209353 SCUBE3 C>T	6	35209353	35209353	C	T	SCUBE3	c.1229C>T	NM_152753.4	NP_689966.2:p.(Ser410Leu)	NC_000006.11:g.35209353C>T	(Likely) benign	1 lab	ba898d9c6d
3:133167363 BFSP2 G>A	3	133167363	133167363	G	A	BFSP2	c.603G>A	NM_003571.4	NP_003562.1:p.(Ala201=)	NC_000003.11:g.133167363G>A	(Likely) benign	1 lab	29a56d3f68
16:70819625 VAC14 G>A	16	70819625	70819625	G	A	VAC14	c.403C>T	NM_018052.5	NP_060522.3:p.(Leu135Phe)	NC_000016.9:g.70819625G>A	VUS	1 lab	ba8f065ba9
12:21068940 SLCO1B3 G>C	12	21068940	21068940	G	C	SLCO1B3	c.1868G>C	NM_019844.4	NP_062818.1:p.(Arg623Thr)	NC_000012.11:g.21068940G>C	VUS	1 lab	ba8fce8065
14:24909630 KHNYN C>A	14	24909630	24909630	C	A	KHNYN	c.*3139C>A	NM_015299.3	NP_056114.1:p.?	NC_000014.8:g.24909630C>A	VUS	1 lab	ba8ffb19aa
10:298316 ZMYND11 A>G	10	298316	298316	A	G	ZMYND11	c.1715A>G	NM_001370100.5	NP_001357029.1:p.(Tyr572Cys)	NC_000010.10:g.298316A>G	(Likely) pathogenic	1 lab	ba90c9fc43
19:47764038 CCDC9 G>A	19	47764038	47764038	G	A	CCDC9	c.404G>A	NM_015603.3	NP_056418.1:p.(Arg135Gln)	NC_000019.9:g.47764038G>A	VUS	1 lab	ba9188435b
4:183600901 TENM3 G>A	4	183600901	183600901	G	A	TENM3	c.1409G>A	NM_001080477.4	NP_001073946.1:p.(Arg470Gln)	NC_000004.11:g.183600901G>A	VUS	1 lab	ba91d93b14
17:8395725 MYH10 G>A	17	8395725	8395725	G	A	MYH10	c.4561C>T	NM_001256012.3	NP_001242941.1:p.(Arg1521Trp)	NC_000017.10:g.8395725G>A	VUS	1 lab	ba9461584f
16:10274123 GRIN2A C>T	16	10274123	10274123	C	T	GRIN2A	c.146G>A	NM_001134407.3	NP_001127879.1:p.(Arg49His)	NC_000016.9:g.10274123C>T	VUS	1 lab	ba96247281
18:55362555 ATP8B1 A>G	18	55362555	55362555	A	G	ATP8B1	c.788T>C	NM_001374385.1	NP_001361314.1:p.(Ile263Thr)	NC_000018.9:g.55362555A>G	VUS	1 lab	ba9648851b
5:176931623 DOK3 C>T	5	176931623	176931623	C	T	DOK3	c.684G>A	NM_001308236.3	NP_001295165.1:p.(Ser228=)	NC_000005.9:g.176931623C>T	VUS	1 lab	ba96576d5d
1:231402141 GNPAT A>G	1	231402141	231402141	A	G	GNPAT	c.1043A>G	NM_014236.4	NP_055051.1:p.(Asn348Ser)	NC_000001.10:g.231402141A>G	(Likely) benign	1 lab	ba98de25ed
1:19557791 EMC1 G>A	1	19557791	19557791	G	A	EMC1	c.1908C>T	NM_015047.3	NP_055862.1:p.(Tyr636=)	NC_000001.10:g.19557791G>A	(Likely) benign	1 lab	ba9976ce8f
11:126176484 DCPS A>G	11	126176484	126176484	A	G	DCPS	c.221A>G	NM_014026.6	NP_054745.1:p.(Asp74Gly)	NC_000011.9:g.126176484A>G	VUS	1 lab	ba9ebc1082
3:151105597 MED12L G>A	3	151105597	151105597	G	A	MED12L	c.5089-1G>A	NM_001393769.1	NP_001380698.1:p.?	NC_000003.11:g.151105597G>A	VUS	1 lab	ba9fab7bd8
11:124626544 ESAM C>A	11	124626544	124626544	C	A	ESAM	c.344G>T	NM_138961.3	NP_620411.2:p.(Gly115Val)	NC_000011.9:g.124626544C>A	VUS	1 lab	baa346501b
1:229635526 NUP133 G>A	1	229635526	229635526	G	A	NUP133	c.553C>T	NM_018230.3	NP_060700.2:p.(Arg185Cys)	NC_000001.10:g.229635526G>A	VUS	1 lab	baa4d32d30
18:31325883 ASXL3 CT>C	18	31325883	31325884	CT	C	ASXL3	c.6072del	NM_030632.3	NP_085135.1:p.(Pro2026LeufsTer54)	NC_000018.9:g.31325884del	(Likely) benign	1 lab	baa6d33fa4
5:52240850 ITGA1 C>A	5	52240850	52240850	C	A	ITGA1	c.3363C>A	NM_181501.2	NP_852478.1:p.(Ser1121Arg)	NC_000005.9:g.52240850C>A	(Likely) benign	1 lab	baa7e591bd
10:21106620 NEBL A>G	10	21106620	21106620	A	G	NEBL	c.2057T>C	NM_006393.2	NP_006384.1:p.(Val686Ala)	NC_000010.10:g.21106620A>G	(Likely) benign	1 lab	2b7b8ab7ea
16:1260904 CACNA1H G>A	16	1260904	1260904	G	A	CACNA1H	c.4156G>A	NM_021098.3	NP_066921.2:p.(Ala1386Thr)	NC_000016.9:g.1260904G>A	(Likely) benign	1 lab	baa8c6c0d3
15:63918279 HERC1 T>C	15	63918279	63918279	T	C	HERC1	c.13180A>G	NM_003922.4	NP_003913.3:p.(Ile4394Val)	NC_000015.9:g.63918279T>C	(Likely) benign	1 lab	baab2b1546
11:68201233 LRP5 G>C	11	68201233	68201233	G	C	LRP5	c.3927G>C	NM_002335.4	NP_002326.2:p.(Gln1309His)	NC_000011.9:g.68201233G>C	VUS	1 lab	baacd2eef7
X:72092372 DMRTC1 G>A	X	72092372	72092372	G	A	DMRTC1	c.493C>T	NM_033053.3	NP_149042.2:p.(Pro165Ser)	NC_000023.10:g.72092372G>A	VUS	1 lab	baad6c62e0
X:153296810 MECP2 A>G	X	153296810	153296810	A	G	MECP2	c.469T>C	NM_004992.3	NP_004983.1:p.(Phe157Leu)	NC_000023.10:g.153296810A>G	(Likely) pathogenic	1 lab	2b7d6fcbe6
19:44933174 ZNF229 GTGGACCCTC>G	19	44933174	44933186	GTGGACCCTC	G	ZNF229	c.1773_1781del	NM_014518.4	NP_055333.3:p.(Gln591_Val593del)	NC_000019.9:g.44933178_44933186del	VUS	1 lab	baade3b90a
22:17687992 ADA2 G>A	22	17687992	17687992	G	A	ADA2	c.511C>T	NM_001282225.2	NP_001269154.1:p.(Arg171Trp)	NC_000022.10:g.17687992G>A	(Likely) benign	1 lab	baadf8e663
14:54418579 BMP4 T>C	14	54418579	54418579	T	C	BMP4	c.362A>G	NM_001202.6	NP_001193.2:p.(His121Arg)	NC_000014.8:g.54418579T>C	(Likely) benign	1 lab	baafe68a99
6:31639004 LY6G5B T>C	6	31639004	31639004	T	C	LY6G5B	c.130T>C	NM_021221.3	NP_067044.2:p.(Ser44Pro)	NC_000006.11:g.31639004T>C	VUS	1 lab	bab06e465e
2:33413843 LTBP1 G>C	2	33413843	33413843	G	C	LTBP1	c.1626G>C	NM_206943.4	NP_996826.3:p.(Gln542His)	NC_000002.11:g.33413843G>C	(Likely) benign	1 lab	bab2b4dbec
15:65952630 DENND4A G>GA	15	65952630	65952633	G	GA	DENND4A	c.*1558dup	NM_001320835.1	NP_001307764.1:p.?	NC_000015.9:g.65952633dup	VUS	1 lab	bab4eb2e91
15:65930467 SLC24A1 C>T	15	65930467	65930467	C	T	SLC24A1	c.1892C>T	NM_004727.3	NP_004718.1:p.(Pro631Leu)	NC_000015.9:g.65930467C>T	(Likely) benign	1 lab	bab6ac3947
8:133150249 KCNQ3 C>T	8	133150249	133150249	C	T	KCNQ3	c.1583G>A	NM_004519.4	NP_004510.1:p.(Arg528His)	NC_000008.10:g.133150249C>T	(Likely) benign	1 lab	bab77dafee
11:76253389 EMSY C>G	11	76253389	76253389	C	G	EMSY	c.2732C>G	NM_001300942.2	NP_001287871.1:p.(Ala911Gly)	NC_000011.9:g.76253389C>G	(Likely) benign	1 lab	bab923a258
17:48435661 XYLT2 G>A	17	48435661	48435661	G	A	XYLT2	c.2035G>A	NM_022167.4	NP_071450.2:p.(Ala679Thr)	NC_000017.10:g.48435661G>A	(Likely) benign	1 lab	baba1aae4b
19:15166244 CASP14 A>T	19	15166244	15166244	A	T	CASP14	c.524A>T	NM_012114.3	NP_036246.1:p.(Tyr175Phe)	NC_000019.9:g.15166244A>T	VUS	1 lab	babcba4139
5:78426800 BHMT G>A	5	78426800	78426800	G	A	BHMT	c.1082G>A	NM_001713.3	NP_001704.2:p.(Arg361Gln)	NC_000005.9:g.78426800G>A	VUS	1 lab	babf199c4a
18:29617079 RNF125 A>C	18	29617079	29617079	A	C	RNF125	c.165A>C	NM_017831.4	NP_060301.2:p.(Val55=)	NC_000018.9:g.29617079A>C	(Likely) benign	1 lab	babf949ccb
15:75655070 MAN2C1 T>C	15	75655070	75655070	T	C	MAN2C1	c.810A>G	NM_006715.4	NP_006706.2:p.(Lys270=)	NC_000015.9:g.75655070T>C	VUS	1 lab	bac6132404
19:47884256 DHX34 A>AT	19	47884256	47884257	A	AT	DHX34	c.3159+8dup	NM_014681.6	NP_055496.2:p.?	NC_000019.9:g.47884257dup	(Likely) benign	1 lab	bac6402ea4
1:228527749 OBSCN C>T	1	228527749	228527749	C	T	OBSCN	c.20233C>T	NM_001271223.2	NP_001258152.2:p.(Arg6745Cys)	NC_000001.10:g.228527749C>T	(Likely) benign	1 lab	2b8564364e
5:172661918 NKX2-5 C>G	5	172661918	172661918	C	G	NKX2-5	c.169G>C	NM_004387.4	NP_004378.1:p.(Ala57Pro)	NC_000005.9:g.172661918C>G	VUS	1 lab	bac6b9857e
16:53675258 RPGRIP1L C>G	16	53675258	53675258	C	G	RPGRIP1L	c.2813G>C	NM_015272.5	NP_056087.2:p.(Ser938Thr)	NC_000016.9:g.53675258C>G	VUS	1 lab	bac808474b
11:10789699 CTR9 A>G	11	10789699	10789699	A	G	CTR9	c.1951A>G	NM_014633.5	NP_055448.1:p.(Asn651Asp)	NC_000011.9:g.10789699A>G	(Likely) benign	1 lab	bac9fdcb6d
17:62018378 SCN4A C>T	17	62018378	62018378	C	T	SCN4A	c.5264G>A	NM_000334.4	NP_000325.4:p.(Arg1755His)	NC_000017.10:g.62018378C>T	VUS	1 lab	bacd85b542
8:37611631 ERLIN2 T>C	8	37611631	37611631	T	C	ERLIN2	c.1018T>C	NM_007175.8	NP_009106.1:p.(Ter340ArgextTer11)	NC_000008.10:g.37611631T>C	VUS	1 lab	bace121b3a
7:96653674 DLX5 G>A	7	96653674	96653674	G	A	DLX5	c.262C>T	NM_005221.6	NP_005212.1:p.(Pro88Ser)	NC_000007.13:g.96653674G>A	VUS	1 lab	bad01d2c85
7:80299326 CD36 C>A	7	80299326	80299326	C	A	CD36	c.806C>A	NM_001001548.3	NP_001001548.1:p.(Ser269Tyr)	NC_000007.13:g.80299326C>A	VUS	1 lab	bad07fde53
19:22363821 ZNF676 G>C	19	22363821	22363821	G	C	ZNF676	c.698C>G	NM_001001411.3	NP_001001411.2:p.(Ala233Gly)	NC_000019.9:g.22363821G>C	(Likely) benign	1 lab	bad0d13a31
19:15289895 NOTCH3 C>T	19	15289895	15289895	C	T	NOTCH3	c.3659G>A	NM_000435.3	NP_000426.2:p.(Arg1220Gln)	NC_000019.9:g.15289895C>T	(Likely) benign	1 lab	bad0f4df04
16:77325288 ADAMTS18 C>G	16	77325288	77325288	C	G	ADAMTS18	c.3277G>C	NM_199355.4	NP_955387.1:p.(Glu1093Gln)	NC_000016.9:g.77325288C>G	VUS	1 lab	bad1f3dd51
1:155629483 YY1AP1 C>G	1	155629483	155629483	C	G	YY1AP1	c.2218G>C	NM_139119.3	NP_620830.1:p.(Glu740Gln)	NC_000001.10:g.155629483C>G	(Likely) benign	1 lab	bad1fdf95c
16:2158602 PKD1 A>G	16	2158602	2158602	A	G	PKD1	c.6566T>C	NM_001009944.3	NP_001009944.3:p.(Val2189Ala)	NC_000016.9:g.2158602A>G	VUS	1 lab	bad3affbed
X:32613972 DMD G>T	X	32613972	32613972	G	T	DMD	c.1504C>A	NM_004006.3	NP_003997.2:p.(Gln502Lys)	NC_000023.10:g.32613972G>T	VUS	1 lab	bad3e5838f
19:58198004 ZNF551 G>A	19	58198004	58198004	G	A	ZNF551	c.361G>A	NM_138347.5	NP_612356.2:p.(Glu121Lys)	NC_000019.9:g.58198004G>A	VUS	1 lab	bad48698f2
1:44461665 CCDC24 G>A	1	44461665	44461665	G	A	CCDC24	c.757G>A	NM_152499.4	NP_689712.1:p.(Gly253Arg)	NC_000001.10:g.44461665G>A	VUS	1 lab	bad4de67e8
16:89345973 ANKRD11 G>T	16	89345973	89345973	G	T	ANKRD11	c.6977C>A	NM_013275.6	NP_037407.4:p.(Ala2326Asp)	NC_000016.9:g.89345973G>T	VUS	1 lab	bad5086cd9
2:27682309 IFT172 C>T	2	27682309	27682309	C	T	IFT172	c.2723G>A	NM_015662.3	NP_056477.1:p.(Arg908Gln)	NC_000002.11:g.27682309C>T	(Likely) benign	1 lab	bad62d7e57
5:149513195 PDGFRB A>G	5	149513195	149513195	A	G	PDGFRB	c.888T>C	NM_002609.4	NP_002600.1:p.(Ser296=)	NC_000005.9:g.149513195A>G	(Likely) benign	1 lab	bad74c6ce3
19:42860512 MEGF8 G>A	19	42860512	42860512	G	A	MEGF8	c.4529G>A	NM_001271938.2	NP_001258867.1:p.(Arg1510His)	NC_000019.9:g.42860512G>A	VUS	1 lab	bad873bba3
1:19205862 ALDH4A1 A>T	1	19205862	19205862	A	T	ALDH4A1	c.872T>A	NM_003748.4	NP_003739.2:p.(Phe291Tyr)	NC_000001.10:g.19205862A>T	VUS	1 lab	bad909aa41
5:60826255 ZSWIM6 A>G	5	60826255	60826255	A	G	ZSWIM6	c.1984+230A>G	NM_020928.2	NP_065979.1:p.?	NC_000005.9:g.60826255A>G	(Likely) benign	1 lab	bade0dc556
5:125912799 ALDH7A1 C>T	5	125912799	125912799	C	T	ALDH7A1	c.622G>A	NM_001182.5	NP_001173.2:p.(Ala208Thr)	NC_000005.9:g.125912799C>T	VUS	1 lab	bade55c66e
1:32672713 IQCC C>T	1	32672713	32672713	C	T	IQCC	c.550C>T	NM_018134.3	NP_060604.2:p.(Arg184Cys)	NC_000001.10:g.32672713C>T	(Likely) benign	1 lab	bade670a12
19:1053459 ABCA7 C>T	19	1053459	1053459	C	T	ABCA7	c.3352C>T	NM_019112.4	NP_061985.2:p.(Arg1118Ter)	NC_000019.9:g.1053459C>T	VUS	1 lab	badec281f2
2:186660561 FSIP2 A>G	2	186660561	186660561	A	G	FSIP2	c.8698A>G	NM_173651.4	NP_775922.3:p.(Lys2900Glu)	NC_000002.11:g.186660561A>G	(Likely) benign	1 lab	badf6c80b0
1:109910100 SORT1 T>C	1	109910100	109910100	T	C	SORT1	c.370A>G	NM_002959.7	NP_002950.3:p.(Ile124Val)	NC_000001.10:g.109910100T>C	(Likely) benign	1 lab	bae1f04502
2:170042177 LRP2 G>T	2	170042177	170042177	G	T	LRP2	c.9681C>A	NM_004525.3	NP_004516.2:p.(Asp3227Glu)	NC_000002.11:g.170042177G>T	VUS	1 lab	bae424aedf
10:82098906 DYDC1 T>TA	10	82098906	82098907	T	TA	DYDC1	c.345_346insT	NM_001269053.2	NP_001255982.1:p.(Met116TyrfsTer10)	NC_000010.10:g.82098906_82098907insA	VUS	1 lab	bae484c398
10:89621869 KLLN C>T	10	89621869	89621869	C	T	KLLN	c.376G>A	NM_001126049.2	NP_001119521.1:p.(Gly126Ser)	NC_000010.10:g.89621869C>T	VUS	1 lab	bae4d84446
11:8016633 EIF3F A>C	11	8016633	8016633	A	C	EIF3F	c.850A>C	NM_003754.3	NP_003745.1:p.(Ser284Arg)	NC_000011.9:g.8016633A>C	(Likely) benign	1 lab	bae5c7e139
10:104176215 PSD T>C	10	104176215	104176215	T	C	PSD	c.581A>G	NM_002779.5	NP_002770.3:p.(Asn194Ser)	NC_000010.10:g.104176215T>C	(Likely) benign	1 lab	bae74a5afd
2:179665220 TTN A>T	2	179665220	179665220	A	T	TTN	c.485T>A	NM_001267550.2	NP_001254479.2:p.(Leu162Gln)	NC_000002.11:g.179665220A>T	VUS	1 lab	bae80bd9b4
16:22268086 EEF2K G>A	16	22268086	22268086	G	A	EEF2K	c.636G>A	NM_013302.5	NP_037434.2:p.(Met212Ile)	NC_000016.9:g.22268086G>A	VUS	1 lab	bae814125f
1:44466880 SLC6A9 C>T	1	44466880	44466880	C	T	SLC6A9	c.1291G>A	NM_001024845.3	NP_001020016.1:p.(Val431Met)	NC_000001.10:g.44466880C>T	VUS	1 lab	bae919e740
19:1257252 MIDN C>G	19	1257252	1257252	C	G	MIDN	c.1517C>G	NM_001388306.1	NP_001375235.1:p.(Ser506Ter)	NC_000019.9:g.1257252C>G	VUS	1 lab	baea20c118
8:38271225 FGFR1 G>A	8	38271225	38271225	G	A	FGFR1	c.2390C>T	NM_023110.3	NP_075598.2:p.(Ser797Phe)	NC_000008.10:g.38271225G>A	VUS	1 lab	baeacffabb
10:124249034 HTRA1 CA>C	10	124249034	124249036	CA	C	HTRA1	c.671del	NM_002775.5	NP_002766.1:p.(Asn224ThrfsTer9)	NC_000010.10:g.124249036del	(Likely) pathogenic	1 lab	baeb096a41
18:25563021 CDH2 T>C	18	25563021	25563021	T	C	CDH2	c.2236A>G	NM_001792.5	NP_001783.2:p.(Met746Val)	NC_000018.9:g.25563021T>C	VUS	1 lab	baeb4c6178
10:46999008 GPRIN2 C>T	10	46999008	46999008	C	T	GPRIN2	c.128C>T	NM_001385282.1	NP_001372211.1:p.(Ala43Val)	NC_000010.10:g.46999008C>T	VUS	1 lab	baef309078
12:114836375 TBX5 C>T	12	114836375	114836375	C	T	TBX5	c.510+3G>A	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114836375C>T	VUS	1 lab	2b8a6d85fd
2:219029505 CXCR1 G>A	2	219029505	219029505	G	A	CXCR1	c.430C>T	NM_000634.3	NP_000625.1:p.(Arg144Cys)	NC_000002.11:g.219029505G>A	(Likely) benign	1 lab	baf0cf30d8
6:117248470 RFX6 C>T	6	117248470	117248470	C	T	RFX6	c.2166C>T	NM_173560.4	NP_775831.2:p.(Thr722=)	NC_000006.11:g.117248470C>T	(Likely) benign	1 lab	baf0e6b17b
2:227872813 COL4A4 G>A	2	227872813	227872813	G	A	COL4A4	c.4730C>T	NM_000092.5	NP_000083.3:p.(Ala1577Val)	NC_000002.11:g.227872813G>A	VUS	1 lab	baf29d2bfc
11:111613299 PPP2R1B G>A	11	111613299	111613299	G	A	PPP2R1B	c.1645C>T	NM_002716.5	NP_002707.3:p.(Arg549Cys)	NC_000011.9:g.111613299G>A	VUS	1 lab	baf3b62fd0
18:52946860 TCF4 C>T	18	52946860	52946860	C	T	TCF4	c.577G>A	NM_001083962.2	NP_001077431.1:p.(Asp193Asn)	NC_000018.9:g.52946860C>T	(Likely) benign	1 lab	baf416de80
12:102164255 GNPTAB T>G	12	102164255	102164255	T	G	GNPTAB	c.1042A>C	NM_024312.5	NP_077288.2:p.(Ile348Leu)	NC_000012.11:g.102164255T>G	(Likely) benign	1 lab	baf484a1c4
16:21082036 DNAH3 AT>A	16	21082036	21082038	AT	A	DNAH3	c.3057del	NM_001347886.2	NP_001334815.1:p.(Glu1019AspfsTer9)	NC_000016.9:g.21082038del	VUS	1 lab	baf6a4ee1a
4:37851806 PGM2 T>G	4	37851806	37851806	T	G	PGM2	c.1414T>G	NM_018290.4	NP_060760.2:p.(Tyr472Asp)	NC_000004.11:g.37851806T>G	VUS	1 lab	baf7c5eac8
17:62026823 SCN4A G>A	17	62026823	62026823	G	A	SCN4A	c.2919C>T	NM_000334.4	NP_000325.4:p.(Pro973=)	NC_000017.10:g.62026823G>A	(Likely) benign	1 lab	bafa884ad7
X:70354631 MED12 C>T	X	70354631	70354631	C	T	MED12	c.4796C>T	NM_005120.3	NP_005111.2:p.(Ser1599Phe)	NC_000023.10:g.70354631C>T	VUS	1 lab	bafd648521
2:148733548 ORC4 T>TA	2	148733548	148733555	T	TA	ORC4	c.-17-5dup	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148733555dup	(Likely) benign	1 lab	bafe1648f7
7:44265317 CAMK2B A>G	7	44265317	44265317	A	G	CAMK2B	c.1597+798T>C	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44265317A>G	(Likely) benign	1 lab	baff340218
22:40745955 ADSL C>A	22	40745955	40745955	C	A	ADSL	c.273C>A	NM_000026.4	NP_000017.1:p.(His91Gln)	NC_000022.10:g.40745955C>A	VUS	1 lab	bb00218062
18:19751991 GATA6 G>A	18	19751991	19751991	G	A	GATA6	c.886G>A	NM_005257.6	NP_005248.2:p.(Gly296Ser)	NC_000018.9:g.19751991G>A	VUS	1 lab	bb00565249
1:43913815 SZT2 G>A	1	43913815	43913815	G	A	SZT2	c.9629G>A	NM_001365999.1	NP_001352928.1:p.(Arg3210His)	NC_000001.10:g.43913815G>A	(Likely) benign	1 lab	bb01a957f3
15:99442866 IGF1R T>C	15	99442866	99442866	T	C	IGF1R	c.1247+16T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99442866T>C	(Likely) benign	1 lab	bb0284200e
2:109365399 RANBP2 C>T	2	109365399	109365399	C	T	RANBP2	c.1087C>T	NM_006267.4	NP_006258.3:p.(Arg363Cys)	NC_000002.11:g.109365399C>T	(Likely) benign	1 lab	2b8a964067
17:1630593 WDR81 G>C	17	1630593	1630593	G	C	WDR81	c.2340G>C	NM_001163809.2	NP_001157281.1:p.(Glu780Asp)	NC_000017.10:g.1630593G>C	VUS	1 lab	bb042afa17
4:3076683 HTT C>A	4	3076683	3076683	C	A	HTT	c.131C>A	NM_001388492.1	NP_001375421.1:p.(Pro44Gln)	NC_000004.11:g.3076683C>A	VUS	1 lab	bb054f0a42
1:16265775 SPEN TCTATC>T	1	16265775	16265782	TCTATC	T	SPEN	c.10864-13_10864-9del	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16265778_16265782del	(Likely) benign	1 lab	bb056cdb27
X:140994271 MAGEC1 G>A	X	140994271	140994271	G	A	MAGEC1	c.1081G>A	NM_005462.5	NP_005453.2:p.(Ala361Thr)	NC_000023.10:g.140994271G>A	VUS	1 lab	bb058c0b94
1:1455569 ATAD3A G>A	1	1455569	1455569	G	A	ATAD3A	c.563G>A	NM_001170535.3	NP_001164006.1:p.(Arg188Gln)	NC_000001.10:g.1455569G>A	VUS	1 lab	bb0761dde0
11:31815039 PAX6 T>C	11	31815039	31815039	T	C	PAX6	c.1021A>G	NM_001368894.2	NP_001355823.1:p.(Ser341Gly)	NC_000011.9:g.31815039T>C	VUS	1 lab	bb0a3230d4
8:62588749 ASPH T>C	8	62588749	62588749	T	C	ASPH	c.322+4778A>G	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62588749T>C	VUS	1 lab	bb0ba82b1c
10:103990439 PITX3 C>CGCG	10	103990439	103990456	C	CGCG	PITX3	c.738_740dup	NM_005029.4	NP_005020.1:p.(Ala250dup)	NC_000010.10:g.103990454_103990456dup	VUS	1 lab	bb0be44fe5
1:27684750 MAP3K6 G>A	1	27684750	27684750	G	A	MAP3K6	c.2837C>T	NM_004672.5	NP_004663.3:p.(Pro946Leu)	NC_000001.10:g.27684750G>A	(Likely) benign	1 lab	bb0c4c8f7b
5:161578671 GABRG2 T>C	5	161578671	161578671	T	C	GABRG2				NC_000005.9:g.161578671T>C	(Likely) benign	1 lab	2b8fc36006
3:119306414 ADPRH G>A	3	119306414	119306414	G	A	ADPRH	c.763G>A	NM_001125.4	NP_001116.1:p.(Asp255Asn)	NC_000003.11:g.119306414G>A	VUS	1 lab	bb0ceae540
6:30884929 VARS2 G>A	6	30884929	30884929	G	A	VARS2	c.801G>A	NM_020442.6	NP_065175.4:p.(Ala267=)	NC_000006.11:g.30884929G>A	VUS	1 lab	bb0e44a95c
2:179442229 TTN T>C	2	179442229	179442229	T	C	TTN	c.68833A>G	NM_001267550.2	NP_001254479.2:p.(Thr22945Ala)	NC_000002.11:g.179442229T>C	VUS	1 lab	bb0ec002aa
12:427537 KDM5A T>C	12	427537	427537	T	C	KDM5A	c.2632A>G	NM_001042603.3	NP_001036068.1:p.(Ile878Val)	NC_000012.11:g.427537T>C	(Likely) benign	1 lab	bb10e3de46
9:138714284 CAMSAP1 A>T	9	138714284	138714284	A	T	CAMSAP1	c.2223T>A	NM_015447.4	NP_056262.3:p.(Asp741Glu)	NC_000009.11:g.138714284A>T	(Likely) benign	1 lab	bb1210dc4f
15:40545082 PAK6 C>T	15	40545082	40545082	C	T	PAK6	c.-117-297C>T	NM_001395430.1	NP_001382359.1:p.?	NC_000015.9:g.40545082C>T	VUS	1 lab	bb12a7deb4
11:88911321 TYR C>T	11	88911321	88911321	C	T	TYR	c.200C>T	NM_000372.5	NP_000363.1:p.(Pro67Leu)	NC_000011.9:g.88911321C>T	VUS	1 lab	bb12bf2ef6
11:2905369 CDKN1C G>A	11	2905369	2905369	G	A	CDKN1C	c.788-5C>T	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2905369G>A	(Likely) benign	1 lab	bb13fed3b7
3:105377882 CBLB C>T	3	105377882	105377882	C	T	CBLB	c.2881G>A	NM_170662.5	NP_733762.2:p.(Glu961Lys)	NC_000003.11:g.105377882C>T	VUS	1 lab	bb1439a30e
3:119887047 GPR156 G>A	3	119887047	119887047	G	A	GPR156	c.1277C>T	NM_153002.3	NP_694547.2:p.(Ser426Leu)	NC_000003.11:g.119887047G>A	(Likely) benign	1 lab	bb182dc8cf
7:45115671 CCM2 G>C	7	45115671	45115671	G	C	CCM2	c.*15G>C	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45115671G>C	(Likely) benign	1 lab	bb1ad5cacf
14:95923560 SYNE3 C>G	14	95923560	95923560	C	G	SYNE3	c.743G>C	NM_152592.6	NP_689805.3:p.(Gly248Ala)	NC_000014.8:g.95923560C>G	VUS	1 lab	bb1c686c98
22:18566459 PEX26 C>T	22	18566459	18566459	C	T	PEX26	c.628C>T	NM_001127649.3	NP_001121121.1:p.(His210Tyr)	NC_000022.10:g.18566459C>T	VUS	1 lab	bb1cb4c19e
14:29237563 FOXG1 A>T	14	29237563	29237563	A	T	FOXG1	c.1078A>T	NM_005249.5	NP_005240.3:p.(Asn360Tyr)	NC_000014.8:g.29237563A>T	VUS	1 lab	bb20743a73
X:3239564 MXRA5 G>T	X	3239564	3239564	G	T	MXRA5	c.4162C>A	NM_015419.4	NP_056234.2:p.(Pro1388Thr)	NC_000023.10:g.3239564G>T	(Likely) benign	1 lab	bb20a9d70f
16:1652513 IFT140 A>G	16	1652513	1652513	A	G	IFT140	c.227T>C	NM_014714.4	NP_055529.2:p.(Leu76Pro)	NC_000016.9:g.1652513A>G	VUS	1 lab	bb20b1e133
16:57765105 DRC7 C>G	16	57765105	57765105	C	G	DRC7	c.2560C>G	NM_001289162.2	NP_001276091.1:p.(Leu854Val)	NC_000016.9:g.57765105C>G	(Likely) benign	1 lab	bb20f41426
5:176562232 NSD1 T>G	5	176562232	176562232	T	G	NSD1	c.128T>G	NM_022455.5	NP_071900.2:p.(Leu43Arg)	NC_000005.9:g.176562232T>G	VUS	1 lab	bb2124adb5
1:202746227 KDM5B G>A	1	202746227	202746227	G	A	KDM5B	c.205-5C>T	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202746227G>A	(Likely) benign	1 lab	bb21447786
22:41305245 XPNPEP3 T>C	22	41305245	41305245	T	C	XPNPEP3	c.969+6T>C	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41305245T>C	(Likely) benign	1 lab	bb21a5928e
8:68026573 CSPP1 T>C	8	68026573	68026573	T	C	CSPP1	c.1255T>C	NM_001382391.1	NP_001369320.1:p.(Leu419=)	NC_000008.10:g.68026573T>C	VUS	1 lab	bb22c1c557
5:138860779 STING1 G>T	5	138860779	138860779	G	T	STING1	c.376C>A	NM_198282.4	NP_938023.1:p.(Leu126Ile)	NC_000005.9:g.138860779G>T	(Likely) benign	1 lab	2b92e47054
1:160141525 ATP1A4 A>G	1	160141525	160141525	A	G	ATP1A4	c.1832A>G	NM_144699.4	NP_653300.2:p.(Lys611Arg)	NC_000001.10:g.160141525A>G	VUS	1 lab	bb242fcce4
3:129175115 IFT122 C>T	3	129175115	129175115	C	T	IFT122	c.194-2327C>T	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129175115C>T	(Likely) benign	1 lab	bb25ea2f9f
11:134014726 JAM3 T>C	11	134014726	134014726	T	C	JAM3	c.449T>C	NM_032801.5	NP_116190.3:p.(Val150Ala)	NC_000011.9:g.134014726T>C	(Likely) benign	1 lab	bb264fc819
8:22777704 PEBP4 GC>G	8	22777704	22777709	GC	G	PEBP4	c.250del	NM_144962.3	NP_659399.2:p.(Ala84ProfsTer10)	NC_000008.10:g.22777709del	(Likely) benign	1 lab	bb2865770b
1:12460316 VPS13D G>A	1	12460316	12460316	G	A	VPS13D	c.11713G>A	NM_015378.4	NP_056193.2:p.(Glu3905Lys)	NC_000001.10:g.12460316G>A	VUS	1 lab	bb28a4f926
17:8438813 MYH10 A>G	17	8438813	8438813	A	G	MYH10	c.1786T>C	NM_001256012.3	NP_001242941.1:p.(Tyr596His)	NC_000017.10:g.8438813A>G	VUS	1 lab	bb291d8522
3:114070107 ZBTB20 G>A	3	114070107	114070107	G	A	ZBTB20	c.818C>T	NM_001348800.3	NP_001335729.1:p.(Ala273Val)	NC_000003.11:g.114070107G>A	VUS	1 lab	bb2982ef57
10:73450309 CDH23 G>C	10	73450309	73450309	G	C	CDH23	c.2144G>C	NM_022124.6	NP_071407.4:p.(Gly715Ala)	NC_000010.10:g.73450309G>C	VUS	1 lab	bb29f79b7b
7:92733281 SAMD9 T>G	7	92733281	92733281	T	G	SAMD9	c.2130A>C	NM_017654.4	NP_060124.2:p.(Lys710Asn)	NC_000007.13:g.92733281T>G	VUS	1 lab	bb2ce943a7
22:31687073 PIK3IP1 A>G	22	31687073	31687073	A	G	PIK3IP1	c.188-3T>C	NM_052880.5	NP_443112.2:p.?	NC_000022.10:g.31687073A>G	VUS	1 lab	bb2fcfdc0f
3:136345007 STAG1 T>C	3	136345007	136345007	T	C	STAG1	c.30-2917A>G	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136345007T>C	VUS	1 lab	bb324cb2a9
1:185947026 HMCN1 C>T	1	185947026	185947026	C	T	HMCN1	c.2479C>T	NM_031935.3	NP_114141.2:p.(Arg827Ter)	NC_000001.10:g.185947026C>T	VUS	1 lab	29aacce217
19:7143014 INSR C>T	19	7143014	7143014	C	T	INSR	c.2355G>A	NM_000208.4	NP_000199.2:p.(Ser785=)	NC_000019.9:g.7143014C>T	(Likely) benign	1 lab	bb32de7711
10:81053153 ZMIZ1 G>C	10	81053153	81053153	G	C	ZMIZ1	c.973G>C	NM_020338.4	NP_065071.1:p.(Ala325Pro)	NC_000010.10:g.81053153G>C	VUS	1 lab	bb34c61d3e
12:48373314 COL2A1 C>T	12	48373314	48373314	C	T	COL2A1	c.2713G>A	NM_001844.5	NP_001835.3:p.(Val905Ile)	NC_000012.11:g.48373314C>T	VUS	1 lab	bb354303d6
6:87970294 ZNF292 G>A	6	87970294	87970294	G	A	ZNF292	c.6947G>A	NM_015021.3	NP_055836.1:p.(Arg2316Gln)	NC_000006.11:g.87970294G>A	(Likely) benign	1 lab	bb367cd991
9:140375459 PNPLA7 C>A	9	140375459	140375459	C	A	PNPLA7	c.2364G>T	NM_001098537.3	NP_001092007.2:p.(Leu788=)	NC_000009.11:g.140375459C>A	VUS	1 lab	bb3703a494
14:77746739 POMT2 T>G	14	77746739	77746739	T	G	POMT2	c.1721A>C	NM_013382.7	NP_037514.2:p.(Tyr574Ser)	NC_000014.8:g.77746739T>G	VUS	1 lab	bb37e0d407
11:5068338 OR52J3 C>T	11	5068338	5068338	C	T	OR52J3	c.583C>T	NM_001001916.2	NP_001001916.2:p.(Arg195Cys)	NC_000011.9:g.5068338C>T	VUS	1 lab	bb382918d6
2:149260012 MBD5 C>A	2	149260012	149260012	C	A	MBD5	c.4970C>A	NM_001378120.1	NP_001365049.1:p.(Pro1657His)	NC_000002.11:g.149260012C>A	(Likely) benign	1 lab	bb3c793061
17:78320284 RNF213 G>A	17	78320284	78320284	G	A	RNF213	c.8149G>A	NM_001256071.3	NP_001243000.2:p.(Asp2717Asn)	NC_000017.10:g.78320284G>A	(Likely) benign	1 lab	bb3d6af3f1
21:44492284 CBS T>TG	21	44492284	44492290	T	TG	CBS	c.19dup	NM_000071.3	NP_000062.1:p.(Gln7ProfsTer30)	NC_000021.8:g.44492290dup	(Likely) pathogenic	1 lab	bb3ff533e6
5:90070161 ADGRV1 C>T	5	90070161	90070161	C	T	ADGRV1	c.12403+41C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90070161C>T	(Likely) benign	1 lab	2b95ab012e
X:36117970 CFAP47 A>G	X	36117970	36117970	A	G	CFAP47	c.5101A>G	NM_001304548.2	NP_001291477.1:p.(Thr1701Ala)	NC_000023.10:g.36117970A>G	VUS	1 lab	bb41e641c9
2:15534476 NBAS A>G	2	15534476	15534476	A	G	NBAS	c.3135-3T>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15534476A>G	VUS	1 lab	bb41ef8c45
3:53535655 CACNA1D T>C	3	53535655	53535655	T	C	CACNA1D	c.391T>C	NM_001128840.3	NP_001122312.1:p.(Phe131Leu)	NC_000003.11:g.53535655T>C	(Likely) benign	1 lab	bb4210107b
2:74690045 MOGS C>CCAGG	2	74690045	74690046	C	CCAGG	MOGS	c.870_871insCCTG	NM_006302.3	NP_006293.2:p.(Gly291ProfsTer6)	NC_000002.11:g.74690045_74690046insCAGG	(Likely) benign	1 lab	bb44220eac
2:179483454 TTN A>G	2	179483454	179483454	A	G	TTN	c.46823T>C	NM_001267550.2	NP_001254479.2:p.(Leu15608Ser)	NC_000002.11:g.179483454A>G	VUS	1 lab	bb443334a1
1:233398893 PCNX2 G>A	1	233398893	233398893	G	A	PCNX2	c.170C>T	NM_014801.4	NP_055616.3:p.(Ala57Val)	NC_000001.10:g.233398893G>A	(Likely) benign	1 lab	bb45e3c447
14:105614454 JAG2 G>A	14	105614454	105614454	G	A	JAG2	c.2247C>T	NM_002226.5	NP_002217.3:p.(Val749=)	NC_000014.8:g.105614454G>A	VUS	1 lab	bb469eeeff
15:99673100 SYNM G>A	15	99673100	99673100	G	A	SYNM	c.4535G>A	NM_145728.3	NP_663780.2:p.(Gly1512Glu)	NC_000015.9:g.99673100G>A	(Likely) benign	1 lab	bb46f030df
9:16419367 BNC2 T>C	9	16419367	16419367	T	C	BNC2	c.2920A>G	NM_017637.6	NP_060107.3:p.(Ile974Val)	NC_000009.11:g.16419367T>C	(Likely) benign	1 lab	bb479bf4f7
11:17470088 ABCC8 G>T	11	17470088	17470088	G	T	ABCC8	c.1307C>A	NM_000352.6	NP_000343.2:p.(Pro436Gln)	NC_000011.9:g.17470088G>T	VUS	1 lab	bb4af220bd
2:179577454 TTN C>A	2	179577454	179577454	C	A	TTN	c.27298G>T	NM_001267550.2	NP_001254479.2:p.(Ala9100Ser)	NC_000002.11:g.179577454C>A	VUS	1 lab	bb4b6ab068
19:55508689 NLRP2 T>C	19	55508689	55508689	T	C	NLRP2	c.2884T>C	NM_017852.5	NP_060322.1:p.(Trp962Arg)	NC_000019.9:g.55508689T>C	VUS	1 lab	bb5e102933
6:142738512 ADGRG6 TAATA>T	6	142738512	142738518	TAATA	T	ADGRG6	c.3035+9_3035+12del	NM_198569.3	NP_940971.2:p.?	NC_000006.11:g.142738515_142738518del	(Likely) benign	1 lab	bb4f3d8dd6
16:4411416 CORO7 C>T	16	4411416	4411416	C	T	CORO7	c.1633G>A	NM_024535.5	NP_078811.3:p.(Ala545Thr)	NC_000016.9:g.4411416C>T	(Likely) benign	1 lab	bb4f7aaa66
5:178503472 ZNF354C C>T	5	178503472	178503472	C	T	ZNF354C	c.54C>T	NM_014594.3	NP_055409.1:p.(Ala18=)	NC_000005.9:g.178503472C>T	(Likely) benign	1 lab	bb4f80b262
22:20780398 SCARF2 A>C	22	20780398	20780398	A	C	SCARF2	c.1865T>G	NM_182895.5	NP_878315.2:p.(Leu622Arg)	NC_000022.10:g.20780398A>C	VUS	1 lab	bb5048f6b4
5:131978046 RAD50 A>G	5	131978046	131978046	A	G	RAD50	c.3929A>G	NM_005732.4	NP_005723.2:p.(Asn1310Ser)	NC_000005.9:g.131978046A>G	(Likely) benign	1 lab	bb566340c5
1:45294977 PTCH2 T>C	1	45294977	45294977	T	C	PTCH2	c.1223A>G	NM_003738.5	NP_003729.3:p.(Tyr408Cys)	NC_000001.10:g.45294977T>C	VUS	1 lab	bb567ba03c
3:119134579 ARHGAP31 G>A	3	119134579	119134579	G	A	ARHGAP31	c.3803G>A	NM_020754.4	NP_065805.2:p.(Gly1268Glu)	NC_000003.11:g.119134579G>A	(Likely) benign	1 lab	bb56c36e9a
2:215818695 ABCA12 G>T	2	215818695	215818695	G	T	ABCA12	c.6530C>A	NM_173076.3	NP_775099.2:p.(Pro2177Gln)	NC_000002.11:g.215818695G>T	VUS	1 lab	bb5724fa56
19:15275837 NOTCH3 C>T	19	15275837	15275837	C	T	NOTCH3	c.5815+342G>A	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15275837C>T	(Likely) benign	1 lab	bb5971b004
X:77528271 CYSLTR1 C>T	X	77528271	77528271	C	T	CYSLTR1	c.973G>A	NM_006639.4	NP_006630.1:p.(Ala325Thr)	NC_000023.10:g.77528271C>T	(Likely) benign	1 lab	bb5c1d859e
12:131593347 ADGRD1 C>T	12	131593347	131593347	C	T	ADGRD1	c.1966C>T	NM_198827.5	NP_942122.2:p.(His656Tyr)	NC_000012.11:g.131593347C>T	VUS	1 lab	bb5d218304
14:77705059 TMEM63C C>A	14	77705059	77705059	C	A	TMEM63C	c.674C>A	NM_020431.4	NP_065164.2:p.(Thr225Asn)	NC_000014.8:g.77705059C>A	VUS	1 lab	bb5f1a7450
X:148579784 IDS C>T	X	148579784	148579784	C	T	IDS	c.562G>A	NM_000202.8	NP_000193.1:p.(Val188Met)	NC_000023.10:g.148579784C>T	VUS	1 lab	bb5f52ec13
3:142180844 ATR A>G	3	142180844	142180844	A	G	ATR	c.7130T>C	NM_001184.4	NP_001175.2:p.(Ile2377Thr)	NC_000003.11:g.142180844A>G	VUS	1 lab	bb5f5fc539
19:38931375 RYR1 G>A	19	38931375	38931375	G	A	RYR1	c.46-10G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38931375G>A	(Likely) pathogenic	1 lab	bb5fb2a1c5
1:907540 PLEKHN1 T>C	1	907540	907540	T	C	PLEKHN1	c.865+10T>C	NM_032129.3	NP_115505.2:p.?	NC_000001.10:g.907540T>C	(Likely) benign	1 lab	bb5ff9c133
9:138642833 KCNT1 G>A	9	138642833	138642833	G	A	KCNT1	c.380G>A	NM_020822.3	NP_065873.2:p.(Cys127Tyr)	NC_000009.11:g.138642833G>A	VUS	1 lab	bb608ebd47
14:52734921 PTGDR G>A	14	52734921	52734921	G	A	PTGDR	c.389G>A	NM_000953.3	NP_000944.1:p.(Cys130Tyr)	NC_000014.8:g.52734921G>A	VUS	1 lab	bb61cab6c9
12:121432040 HNF1A C>T	12	121432040	121432040	C	T	HNF1A	c.787C>T	NM_000545.8	NP_000536.6:p.(Arg263Cys)	NC_000012.11:g.121432040C>T	(Likely) pathogenic	1 lab	bb6211e707
5:14498281 TRIO C>T	5	14498281	14498281	C	T	TRIO	c.8131C>T	NM_007118.4	NP_009049.2:p.(Arg2711Cys)	NC_000005.9:g.14498281C>T	VUS	1 lab	bb63435dbd
1:183518902 SMG7 A>G	1	183518902	183518902	A	G	SMG7	c.2977A>G	NM_001375584.1	NP_001362513.1:p.(Arg993Gly)	NC_000001.10:g.183518902A>G	(Likely) benign	1 lab	bb637a74d8
X:84358865 SATL1 C>A	X	84358865	84358865	C	A	SATL1	c.1693+5G>T	NM_001367857.2	NP_001354786.1:p.?	NC_000023.10:g.84358865C>A	(Likely) benign	1 lab	bb6399e39b
6:117243327 RFX6 G>C	6	117243327	117243327	G	C	RFX6	c.1437+13G>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243327G>C	(Likely) benign	1 lab	bb63d5addf
4:80954682 ANTXR2 C>G	4	80954682	80954682	C	G	ANTXR2	c.740G>C	NM_058172.6	NP_477520.2:p.(Gly247Ala)	NC_000004.11:g.80954682C>G	(Likely) benign	1 lab	bb6412c50b
5:140307379 PCDHAC1 C>T	5	140307379	140307379	C	T	PCDHAC1	c.902C>T	NM_018898.5	NP_061721.2:p.(Pro301Leu)	NC_000005.9:g.140307379C>T	(Likely) benign	1 lab	bb65882e08
15:33446301 FMN1 C>G	15	33446301	33446301	C	G	FMN1	c.815G>C	NM_001277313.2	NP_001264242.1:p.(Ser272Thr)	NC_000015.9:g.33446301C>G	(Likely) benign	1 lab	bb6777a295
12:123345746 HIP1R G>A	12	123345746	123345746	G	A	HIP1R	c.2952+7G>A	NM_003959.3	NP_003950.1:p.?	NC_000012.11:g.123345746G>A	VUS	1 lab	bb689e6d79
16:2166997 PKD1 C>G	16	2166997	2166997	C	G	PKD1	c.1443G>C	NM_001009944.3	NP_001009944.3:p.(Ala481=)	NC_000016.9:g.2166997C>G	(Likely) benign	1 lab	bb692497b8
3:135974776 PCCB C>A	3	135974776	135974776	C	A	PCCB	c.262C>A	NM_000532.5	NP_000523.2:p.(His88Asn)	NC_000003.11:g.135974776C>A	VUS	1 lab	bb69997a85
7:154645533 DPP6 GA>G	7	154645533	154645537	GA	G	DPP6	c.1714del	NM_130797.4	NP_570629.2:p.(Met573CysfsTer4)	NC_000007.13:g.154645537del	VUS	1 lab	bb69ccd6bd
13:110829278 COL4A1 C>T	13	110829278	110829278	C	T	COL4A1	c.2823G>A	NM_001845.6	NP_001836.3:p.(Val941=)	NC_000013.10:g.110829278C>T	VUS	1 lab	bb69d7807f
16:68362960 PRMT7 A>G	16	68362960	68362960	A	G	PRMT7	c.283-9A>G	NM_019023.5	NP_061896.1:p.?	NC_000016.9:g.68362960A>G	(Likely) benign	1 lab	bb6a363c7b
20:21690010 PAX1 C>G	20	21690010	21690010	C	G	PAX1	c.1210C>G	NM_001257096.2	NP_001244025.1:p.(Pro404Ala)	NC_000020.10:g.21690010C>G	(Likely) benign	1 lab	bb6af85c6f
15:23892405 MAGEL2 G>A	15	23892405	23892405	G	A	MAGEL2	c.485C>T	NM_019066.5	NP_061939.3:p.(Pro162Leu)	NC_000015.9:g.23892405G>A	(Likely) benign	1 lab	bb6d235a33
17:725603 NXN G>T	17	725603	725603	G	T	NXN	c.707C>A	NM_022463.5	NP_071908.2:p.(Ala236Glu)	NC_000017.10:g.725603G>T	VUS	1 lab	bb6e354d4c
1:78098402 ZZZ3 A>G	1	78098402	78098402	A	G	ZZZ3	c.638T>C	NM_015534.6	NP_056349.1:p.(Ile213Thr)	NC_000001.10:g.78098402A>G	(Likely) benign	1 lab	bb6e48ab97
14:104643986 KIF26A C>T	14	104643986	104643986	C	T	KIF26A	c.4861C>T	NM_015656.2	NP_056471.1:p.(Arg1621Trp)	NC_000014.8:g.104643986C>T	(Likely) benign	1 lab	bb6f0cfc6b
2:220422176 OBSL1 G>A	2	220422176	220422176	G	A	OBSL1	c.3955C>T	NM_015311.3	NP_056126.1:p.(Gln1319Ter)	NC_000002.11:g.220422176G>A	VUS	1 lab	bb700fb891
7:31013677 GHRHR C>G	7	31013677	31013677	C	G	GHRHR	c.675C>G	NM_000823.4	NP_000814.2:p.(Val225=)	NC_000007.13:g.31013677C>G	(Likely) benign	1 lab	bb705fe751
X:54209299 FAM120C A>AT	X	54209299	54209300	A	AT	FAM120C	c.332_333insA	NM_017848.6	NP_060318.4:p.(Gln112SerfsTer128)	NC_000023.10:g.54209299_54209300insT	(Likely) benign	1 lab	bb70d73399
4:2087407 POLN A>C	4	2087407	2087407	A	C	POLN	c.2130T>G	NM_181808.4	NP_861524.2:p.(Ser710Arg)	NC_000004.11:g.2087407A>C	VUS	1 lab	bb71ee6960
X:14883118 FANCB C>T	X	14883118	14883118	C	T	FANCB	c.515G>A	NM_001018113.1	NP_001018123.1:p.(Trp172Ter)	NC_000023.10:g.14883118C>T	(Likely) pathogenic	1 lab	337213c830
1:170705229 PRRX1 C>T	1	170705229	170705229	C	T	PRRX1	c.640C>T	NM_022716.4	NP_073207.1:p.(Pro214Ser)	NC_000001.10:g.170705229C>T	VUS	1 lab	bb740ae96e
X:2867546 ARSL T>TGTGTGAGCTTCCCTGCTACCA	X	2867546	2867574	T	TGTGTGAGCTTCCCTGCTACCA	ARSL	c.707_727dup	NM_001282628.2	NP_001269557.1:p.(Leu236_Thr242dup)	NC_000023.10:g.2867554_2867574dup	VUS	1 lab	29b08c8199
12:53494543 IGFBP6 C>T	12	53494543	53494543	C	T	IGFBP6	c.382C>T	NM_002178.3	NP_002169.1:p.(Arg128Cys)	NC_000012.11:g.53494543C>T	VUS	1 lab	bb7519a504
5:74400181 ANKRD31 G>A	5	74400181	74400181	G	A	ANKRD31	c.5203C>T	NM_001372053.1	NP_001358982.1:p.(Gln1735Ter)	NC_000005.9:g.74400181G>A	VUS	1 lab	bb75e426e6
2:70524478 TIMCC G>A	2	70524478	70524478	G	A	TIMCC	c.681C>T	NM_001329752.2	NP_001316681.1:p.(His227=)	NC_000002.11:g.70524478G>A	VUS	1 lab	bb764a69a7
20:31023916 ASXL1 C>T	20	31023916	31023916	C	T	ASXL1	c.3401C>T	NM_015338.6	NP_056153.2:p.(Pro1134Leu)	NC_000020.10:g.31023916C>T	(Likely) benign	1 lab	bb7840ecbd
7:12412604 VWDE G>T	7	12412604	12412604	G	T	VWDE	c.1586C>A	NM_001135924.3	NP_001129396.1:p.(Thr529Lys)	NC_000007.13:g.12412604G>T	VUS	1 lab	bb7b71eea9
1:11898722 CLCN6 G>A	1	11898722	11898722	G	A	CLCN6	c.2529+5G>A	NM_001286.5	NP_001277.2:p.?	NC_000001.10:g.11898722G>A	VUS	1 lab	bbbae7b5de
22:41737145 ZC3H7B C>A	22	41737145	41737145	C	A	ZC3H7B	c.1192C>A	NM_017590.6	NP_060060.3:p.(Pro398Thr)	NC_000022.10:g.41737145C>A	(Likely) benign	1 lab	bb7d26ee66
11:16208430 SOX6 C>A	11	16208430	16208430	C	A	SOX6	c.607G>T	NM_001367873.1	NP_001354802.1:p.(Glu203Ter)	NC_000011.9:g.16208430C>A	VUS	1 lab	bb7ddede38
16:2158785 PKD1 T>C	16	2158785	2158785	T	C	PKD1	c.6383A>G	NM_001009944.3	NP_001009944.3:p.(Asn2128Ser)	NC_000016.9:g.2158785T>C	(Likely) pathogenic	1 lab	bb80e7c423
17:650885 GEMIN4 G>T	17	650885	650885	G	T	GEMIN4	c.398C>A	NM_015721.3	NP_056536.2:p.(Pro133His)	NC_000017.10:g.650885G>T	VUS	1 lab	bb8179d335
10:89501079 PAPSS2 C>T	10	89501079	89501079	C	T	PAPSS2	c.1174C>T	NM_001015880.2	NP_001015880.1:p.(Arg392Cys)	NC_000010.10:g.89501079C>T	VUS	1 lab	bb817bdaa3
3:48507961 TREX1 T>A	3	48507961	48507961	T	A	TREX1	c.-26-68T>A	NM_033629.6	NP_338599.1:p.?	NC_000003.11:g.48507961T>A	(Likely) benign	1 lab	bb82853008
X:142605008 SPANXN3 G>A	X	142605008	142605008	G	A	SPANXN3	c.78+134C>T	NM_001009609.4	NP_001009609.2:p.?	NC_000023.10:g.142605008G>A	VUS	1 lab	bb82b5b479
3:47619404 CSPG5 T>G	3	47619404	47619404	T	G	CSPG5	c.112A>C	NM_006574.4	NP_006565.2:p.(Ser38Arg)	NC_000003.11:g.47619404T>G	VUS	1 lab	bb831bf8ce
1:89618111 GBP7 T>A	1	89618111	89618111	T	A	GBP7	c.465A>T	NM_207398.3	NP_997281.2:p.(Lys155Asn)	NC_000001.10:g.89618111T>A	VUS	1 lab	bb8381cf1d
15:34146601 RYR3 T>C	15	34146601	34146601	T	C	RYR3	c.13811T>C	NM_001036.6	NP_001027.3:p.(Ile4604Thr)	NC_000015.9:g.34146601T>C	VUS	1 lab	bb8492b242
12:125465146 DHX37 C>T	12	125465146	125465146	C	T	DHX37	c.628G>A	NM_032656.4	NP_116045.2:p.(Val210Met)	NC_000012.11:g.125465146C>T	VUS	1 lab	bb862f3548
2:98275449 ACTR1B C>T	2	98275449	98275449	C	T	ACTR1B	c.333G>A	NM_005735.4	NP_005726.1:p.(Thr111=)	NC_000002.11:g.98275449C>T	(Likely) benign	1 lab	bb868e6c0a
22:41574383 EP300 A>C	22	41574383	41574383	A	C	EP300	c.6668A>C	NM_001429.4	NP_001420.2:p.(Gln2223Pro)	NC_000022.10:g.41574383A>C	(Likely) benign	1 lab	bb880900c3
2:172563791 DYNC1I2 A>G	2	172563791	172563791	A	G	DYNC1I2	c.245-6A>G	NM_001378.3	NP_001369.1:p.?	NC_000002.11:g.172563791A>G	VUS	1 lab	bb89439d4d
X:70280896 SNX12 C>A	X	70280896	70280896	C	A	SNX12	c.459G>T	NM_013346.4	NP_037478.2:p.(Arg153Ser)	NC_000023.10:g.70280896C>A	VUS	1 lab	bb8c58411d
10:73570263 CDH23 C>T	10	73570263	73570263	C	T	CDH23	c.9014C>T	NM_022124.6	NP_071407.4:p.(Ala3005Val)	NC_000010.10:g.73570263C>T	VUS	1 lab	bb8cca2a64
2:233348182 ECEL1 G>A	2	233348182	233348182	G	A	ECEL1	c.1450C>T	NM_004826.4	NP_004817.2:p.(Arg484Cys)	NC_000002.11:g.233348182G>A	VUS	1 lab	bb92355472
18:49515 TUBB8B G>A	18	49515	49515	G	A	TUBB8B	c.43C>T	NM_001358689.2	NP_001345618.1:p.(Gln15Ter)	NC_000018.9:g.49515G>A	(Likely) benign	1 lab	bb92f7be98
12:667203 B4GALNT3 T>A	12	667203	667203	T	A	B4GALNT3	c.2556T>A	NM_173593.4	NP_775864.3:p.(Ser852Arg)	NC_000012.11:g.667203T>A	(Likely) benign	1 lab	bb9344b201
1:52851624 ORC1 G>C	1	52851624	52851624	G	C	ORC1	c.1384-3C>G	NM_004153.4	NP_004144.2:p.?	NC_000001.10:g.52851624G>C	VUS	1 lab	bb93b9ee65
6:87967011 ZNF292 G>T	6	87967011	87967011	G	T	ZNF292	c.3664G>T	NM_015021.3	NP_055836.1:p.(Glu1222Ter)	NC_000006.11:g.87967011G>T	(Likely) pathogenic	1 lab	bb9462b71a
X:151935240 MAGEA6 C>A	X	151935240	151935240	C	A	MAGEA6	c.927G>T	NM_005363.5	NP_005354.1:p.(Leu309Phe)	NC_000023.10:g.151935240C>A	(Likely) benign	1 lab	bb946f03b6
16:771441 ANTKMT G>A	16	771441	771441	G	A	ANTKMT	c.162+5G>A	NM_023933.3	NP_076422.1:p.?	NC_000016.9:g.771441G>A	(Likely) benign	1 lab	bb9586171d
X:123838853 TENM1 A>G	X	123838853	123838853	A	G	TENM1	c.1015+10T>C	NM_001163278.2	NP_001156750.1:p.?	NC_000023.10:g.123838853A>G	(Likely) benign	1 lab	bb9640d052
17:71205863 VCF1 G>C	17	71205863	71205863	G	C	VCF1	c.429C>G	NM_001098832.2	NP_001092302.1:p.(Ser143Arg)	NC_000017.10:g.71205863G>C	VUS	1 lab	bb985023e7
15:99500485 IGF1R C>T	15	99500485	99500485	C	T	IGF1R	c.3918C>T	NM_000875.5	NP_000866.1:p.(Asp1306=)	NC_000015.9:g.99500485C>T	(Likely) benign	1 lab	bb9a7686a2
14:62259561 SNAPC1 TA>T	14	62259561	62259563	TA	T	SNAPC1	c.1015del	NM_003082.4	NP_003073.1:p.(Ser339ValfsTer2)	NC_000014.8:g.62259563del	(Likely) benign	1 lab	bb9b0cc538
1:155362754 ASH1L C>T	1	155362754	155362754	C	T	ASH1L	c.6103+2496G>A	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155362754C>T	(Likely) benign	1 lab	bb9b4049a4
2:219516895 ZNF142 G>A	2	219516895	219516895	G	A	ZNF142	c.409C>T	NM_001379659.1	NP_001366588.1:p.(Pro137Ser)	NC_000002.11:g.219516895G>A	VUS	1 lab	bb9c040a9f
19:39013952 RYR1 C>T	19	39013952	39013952	C	T	RYR1	c.10440+3C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39013952C>T	VUS	1 lab	bb9d4c44c3
16:2816708 SRRM2 G>A	16	2816708	2816708	G	A	SRRM2	c.6179G>A	NM_016333.4	NP_057417.3:p.(Arg2060Gln)	NC_000016.9:g.2816708G>A	VUS	1 lab	bb9e305d43
1:26135083 SELENON G>C	1	26135083	26135083	G	C	SELENON	c.448G>C	NM_206926.2	NP_996809.1:p.(Ala150Pro)	NC_000001.10:g.26135083G>C	VUS	1 lab	bb9eb6335a
16:30740497 SRCAP C>T	16	30740497	30740497	C	T	SRCAP	c.5869C>T	NM_006662.3	NP_006653.2:p.(Arg1957Trp)	NC_000016.9:g.30740497C>T	VUS	1 lab	bb9f3c9e54
19:50315947 FUZ C>T	19	50315947	50315947	C	T	FUZ	c.158G>A	NM_025129.5	NP_079405.2:p.(Gly53Glu)	NC_000019.9:g.50315947C>T	VUS	1 lab	bba08767af
8:104709427 RIMS2 A>T	8	104709427	104709427	A	T	RIMS2	c.410A>T	NM_001348484.3	NP_001335413.1:p.(Lys137Ile)	NC_000008.10:g.104709427A>T	VUS	1 lab	bba26027d8
8:61777723 CHD7 A>G	8	61777723	61777723	A	G	CHD7	c.8225A>G	NM_017780.4	NP_060250.2:p.(Asn2742Ser)	NC_000008.10:g.61777723A>G	VUS	1 lab	bba61cb841
X:154194402 F8 T>C	X	154194402	154194402	T	C	F8	c.1286A>G	NM_000132.4	NP_000123.1:p.(Gln429Arg)	NC_000023.10:g.154194402T>C	(Likely) benign	1 lab	bba63fac68
13:111371733 ING1 G>A	13	111371733	111371733	G	A	ING1	c.294G>A	NM_198219.3	NP_937862.1:p.(Leu98=)	NC_000013.10:g.111371733G>A	(Likely) benign	1 lab	bba876ec32
1:225510520 DNAH14 G>C	1	225510520	225510520	G	C	DNAH14	c.9490G>C	NM_001367479.1	NP_001354408.1:p.(Asp3164His)	NC_000001.10:g.225510520G>C	(Likely) benign	1 lab	bba8f2b278
7:107427360 SLC26A3 A>G	7	107427360	107427360	A	G	SLC26A3	c.889-6T>C	NM_000111.2	NP_000102.1:p.?	NC_000007.13:g.107427360A>G	(Likely) benign	1 lab	2ba2a16726
16:2161301 PKD1 C>CT	16	2161301	2161302	C	CT	PKD1	c.3866_3867insA	NM_001009944.3	NP_001009944.3:p.(Leu1290AlafsTer11)	NC_000016.9:g.2161301_2161302insT	(Likely) pathogenic	1 lab	bba9a5ccf3
5:36114626 LMBRD2 G>A	5	36114626	36114626	G	A	LMBRD2	c.1543-3C>T	NM_001007527.2	NP_001007528.1:p.?	NC_000005.9:g.36114626G>A	(Likely) benign	1 lab	bba9f88216
1:202731850 KDM5B G>A	1	202731850	202731850	G	A	KDM5B	c.895C>T	NM_006618.5	NP_006609.3:p.(Arg299Ter)	NC_000001.10:g.202731850G>A	(Likely) pathogenic	1 lab	bbaa8091bb
15:99472818 IGF1R C>T	15	99472818	99472818	C	T	IGF1R	c.2814C>T	NM_000875.5	NP_000866.1:p.(Ile938=)	NC_000015.9:g.99472818C>T	(Likely) benign	1 lab	bbac17084d
4:128865037 MFSD8 T>A	4	128865037	128865037	T	A	MFSD8	c.309A>T	NM_001371596.2	NP_001358525.1:p.(Arg103Ser)	NC_000004.11:g.128865037T>A	(Likely) pathogenic	1 lab	bbac5652a4
20:44683658 SLC12A5 G>A	20	44683658	44683658	G	A	SLC12A5	c.2783G>A	NM_020708.5	NP_065759.1:p.(Arg928Gln)	NC_000020.10:g.44683658G>A	VUS	1 lab	29b0c71d16
16:89253972 CDH15 C>T	16	89253972	89253972	C	T	CDH15	c.792+7C>T	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89253972C>T	(Likely) benign	1 lab	bbaf11d680
3:126707845 PLXNA1 A>G	3	126707845	126707845	A	G	PLXNA1	c.409A>G	NM_032242.4	NP_115618.3:p.(Ile137Val)	NC_000003.11:g.126707845A>G	(Likely) benign	1 lab	bbafa242ea
14:74974742 LTBP2 C>T	14	74974742	74974742	C	T	LTBP2	c.3709G>A	NM_000428.3	NP_000419.1:p.(Glu1237Lys)	NC_000014.8:g.74974742C>T	VUS	1 lab	bbb071a259
7:122808479 SLC13A1 G>GA	7	122808479	122808484	G	GA	SLC13A1	c.612-4dup	NM_022444.4	NP_071889.2:p.?	NC_000007.13:g.122808484dup	(Likely) benign	1 lab	bbb16c0ed1
8:126068967 WASHC5 C>T	8	126068967	126068967	C	T	WASHC5	c.1968G>A	NM_014846.4	NP_055661.3:p.(Leu656=)	NC_000008.10:g.126068967C>T	(Likely) benign	1 lab	bbb22c2746
X:45051181 DIPK2B A>G	X	45051181	45051181	A	G	DIPK2B	c.313T>C	NM_176819.4	NP_789789.2:p.(Ser105Pro)	NC_000023.10:g.45051181A>G	(Likely) benign	1 lab	bbb4616776
17:79817123 P4HB C>T	17	79817123	79817123	C	T	P4HB	c.286G>A	NM_000918.4	NP_000909.2:p.(Val96Met)	NC_000017.10:g.79817123C>T	(Likely) pathogenic	1 lab	bbb48fb1ea
19:7143089 INSR T>C	19	7143089	7143089	T	C	INSR	c.2280A>G	NM_000208.4	NP_000199.2:p.(Lys760=)	NC_000019.9:g.7143089T>C	(Likely) benign	1 lab	bbb69cd0d4
6:51890599 PKHD1 C>T	6	51890599	51890599	C	T	PKHD1	c.4009G>A	NM_138694.4	NP_619639.3:p.(Asp1337Asn)	NC_000006.11:g.51890599C>T	(Likely) benign	1 lab	bbb7c41d48
4:6303036 WFS1 GCCTGCTCTATGTCTA>G	4	6303036	6303061	GCCTGCTCTATGTCTA	G	WFS1	c.1525_1539del	NM_006005.3	NP_005996.2:p.(Val509_Tyr513del)	NC_000004.11:g.6303047_6303061del	(Likely) pathogenic	1 lab	bbb7ee6658
11:101341915 TRPC6 T>C	11	101341915	101341915	T	C	TRPC6	c.2408A>G	NM_004621.6	NP_004612.2:p.(Lys803Arg)	NC_000011.9:g.101341915T>C	VUS	1 lab	bbb86dfb2a
5:14482688 TRIO T>C	5	14482688	14482688	T	C	TRIO	c.6466-3T>C	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14482688T>C	(Likely) benign	1 lab	bbb8c372aa
10:31750053 ZEB1 A>T	10	31750053	31750053	A	T	ZEB1	c.146A>T	NM_001174096.2	NP_001167567.1:p.(Asp49Val)	NC_000010.10:g.31750053A>T	VUS	1 lab	bbb8d2406d
X:70823950 GCNA CCCGACGACAGCAGTGATGATTCGGAAGCTT>C	X	70823950	70824039	CCCGACGACAGCAGTGATGATTCGGAAGCTT	C	GCNA	c.883_912del	NM_052957.5	NP_443189.1:p.(Ser295_Ala304del)	NC_000023.10:g.70824010_70824039del	VUS	1 lab	bbb9cede61
16:81971528 PLCG2 C>G	16	81971528	81971528	C	G	PLCG2	c.3198+20C>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81971528C>G	(Likely) benign	1 lab	2ba36b714c
4:6080689 JAKMIP1 C>T	4	6080689	6080689	C	T	JAKMIP1	c.1279G>A	NM_001099433.2	NP_001092903.1:p.(Gly427Arg)	NC_000004.11:g.6080689C>T	VUS	1 lab	bbbbfeecfc
8:12043032 FAM86B1 C>A	8	12043032	12043032	C	A	FAM86B1	c.643G>T	NM_001083537.4	NP_001077006.1:p.(Val215Leu)	NC_000008.10:g.12043032C>A	VUS	1 lab	bbc098485a
1:75672393 SLC44A5 C>T	1	75672393	75672393	C	T	SLC44A5	c.2048-2875G>A	NM_001130058.2	NP_001123530.1:p.?	NC_000001.10:g.75672393C>T	VUS	1 lab	bbc6d86487
6:30529700 PRR3 C>T	6	30529700	30529700	C	T	PRR3	c.259C>T	NM_025263.4	NP_079539.2:p.(Arg87Trp)	NC_000006.11:g.30529700C>T	(Likely) benign	1 lab	bbca4bd075
13:31035515 HMGB1 TTCTTCA>T	13	31035515	31035532	TTCTTCA	T	HMGB1	c.621_626del	NM_002128.7	NP_002119.1:p.(Asp207_Glu208del)	NC_000013.10:g.31035527_31035532del	VUS	1 lab	bbcaa694ad
1:236208911 NID1 C>A	1	236208911	236208911	C	A	NID1	c.598G>T	NM_002508.3	NP_002499.2:p.(Gly200Cys)	NC_000001.10:g.236208911C>A	(Likely) benign	1 lab	bbcb022939
1:7792669 CAMTA1 G>A	1	7792669	7792669	G	A	CAMTA1	c.3066+10G>A	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7792669G>A	(Likely) benign	1 lab	bbccec9887
1:200950120 KIF21B G>A	1	200950120	200950120	G	A	KIF21B	c.3947C>T	NM_001252102.2	NP_001239031.1:p.(Ala1316Val)	NC_000001.10:g.200950120G>A	VUS	1 lab	bbcd12a18b
2:179584366 TTN G>A	2	179584366	179584366	G	A	TTN	c.23853C>T	NM_001267550.2	NP_001254479.2:p.(Ala7951=)	NC_000002.11:g.179584366G>A	(Likely) benign	1 lab	bbcd9ab870
2:54859872 SPTBN1 G>A	2	54859872	54859872	G	A	SPTBN1	c.3734G>A	NM_003128.3	NP_003119.2:p.(Arg1245His)	NC_000002.11:g.54859872G>A	(Likely) benign	1 lab	bbce153f34
6:90428576 MDN1 C>A	6	90428576	90428576	C	A	MDN1	c.6231G>T	NM_014611.3	NP_055426.1:p.(Gln2077His)	NC_000006.11:g.90428576C>A	(Likely) benign	1 lab	bbce57ccb3
19:11098369 SMARCA4 C>T	19	11098369	11098369	C	T	SMARCA4	c.887C>T	NM_003072.5	NP_003063.2:p.(Thr296Met)	NC_000019.9:g.11098369C>T	(Likely) benign	1 lab	bbcf0fc417
16:3014990 KREMEN2 C>A	16	3014990	3014990	C	A	KREMEN2	c.225C>A	NM_172229.3	NP_757384.1:p.(Ser75Arg)	NC_000016.9:g.3014990C>A	(Likely) benign	1 lab	bbd0a5f781
6:24843466 RIPOR2 G>T	6	24843466	24843466	G	T	RIPOR2	c.1481C>A	NM_001286445.3	NP_001273374.1:p.(Pro494Gln)	NC_000006.11:g.24843466G>T	(Likely) benign	1 lab	bbd1251350
12:21954004 ABCC9 C>A	12	21954004	21954004	C	A	ABCC9	c.4624G>T	NM_020297.4	NP_064693.2:p.(Ala1542Ser)	NC_000012.11:g.21954004C>A	VUS	1 lab	bbd179c72f
X:153033297 PLXNB3 C>T	X	153033297	153033297	C	T	PLXNB3	c.1015C>T	NM_005393.3	NP_005384.2:p.(Arg339Trp)	NC_000023.10:g.153033297C>T	(Likely) benign	1 lab	bbd25130d4
3:155241680 PLCH1 A>G	3	155241680	155241680	A	G	PLCH1	c.1470+6T>C	NM_014996.4	NP_055811.2:p.?	NC_000003.11:g.155241680A>G	(Likely) benign	1 lab	bbd33b18b9
2:58311254 VRK2 C>A	2	58311254	58311254	C	A	VRK2	c.167C>A	NM_006296.7	NP_006287.2:p.(Ala56Glu)	NC_000002.11:g.58311254C>A	VUS	1 lab	bbd4adc456
3:69990481 MITF C>T	3	69990481	69990481	C	T	MITF	c.761C>T	NM_001354604.2	NP_001341533.1:p.(Thr254Met)	NC_000003.11:g.69990481C>T	VUS	1 lab	bbd54e95ef
4:1806208 FGFR3 C>T	4	1806208	1806208	C	T	FGFR3	c.1227C>T	NM_000142.5	NP_000133.1:p.(Pro409=)	NC_000004.11:g.1806208C>T	(Likely) benign	1 lab	bbd752d304
17:10432640 MYH2 CTT>C	17	10432640	10432643	CTT	C	MYH2	c.3263+11_3263+12del	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10432642_10432643del	VUS	1 lab	bbd7be2885
4:119220085 PRSS12 G>T	4	119220085	119220085	G	T	PRSS12	c.1640C>A	NM_003619.4	NP_003610.2:p.(Ala547Asp)	NC_000004.11:g.119220085G>T	VUS	1 lab	bbda1a8123
7:107618543 LAMB1 G>C	7	107618543	107618543	G	C	LAMB1	c.949C>G	NM_002291.3	NP_002282.2:p.(His317Asp)	NC_000007.13:g.107618543G>C	VUS	1 lab	bbda305907
6:93967903 EPHA7 T>G	6	93967903	93967903	T	G	EPHA7	c.2024A>C	NM_004440.4	NP_004431.1:p.(Gln675Pro)	NC_000006.11:g.93967903T>G	(Likely) benign	1 lab	bbdb800f40
1:8421103 RERE G>A	1	8421103	8421103	G	A	RERE	c.2464C>T	NM_001042681.2	NP_001036146.1:p.(Pro822Ser)	NC_000001.10:g.8421103G>A	VUS	1 lab	bbdcce2edd
5:127730830 FBN2 G>A	5	127730830	127730830	G	A	FBN2	c.1216C>T	NM_001999.4	NP_001990.2:p.(Pro406Ser)	NC_000005.9:g.127730830G>A	VUS	1 lab	bbdd417d07
7:102114989 POLR2J T>TC	7	102114989	102114990	T	TC	POLR2J	c.144-8dup	NM_006234.6	NP_006225.1:p.?	NC_000007.13:g.102114990dup	(Likely) benign	1 lab	bbddf8bf32
15:73635991 HCN4 C>T	15	73635991	73635991	C	T	HCN4	c.944G>A	NM_005477.3	NP_005468.1:p.(Arg315His)	NC_000015.9:g.73635991C>T	VUS	1 lab	29b140c3d8
8:100221812 VPS13B C>T	8	100221812	100221812	C	T	VPS13B	c.2515+16527C>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100221812C>T	(Likely) benign	1 lab	bbdec583dc
20:4163019 SMOX A>T	20	4163019	4163019	A	T	SMOX	c.893A>T	NM_175839.3	NP_787033.1:p.(Glu298Val)	NC_000020.10:g.4163019A>T	(Likely) benign	1 lab	bbe09d1b07
18:74667950 ZNF236 G>A	18	74667950	74667950	G	A	ZNF236	c.4924G>A	NM_001306089.2	NP_001293018.1:p.(Val1642Ile)	NC_000018.9:g.74667950G>A	(Likely) benign	1 lab	bbe16395ca
7:87607737 ADAM22 G>T	7	87607737	87607737	G	T	ADAM22	c.323+10G>T	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87607737G>T	(Likely) benign	1 lab	bbe7b003d5
14:21542939 ARHGEF40 G>A	14	21542939	21542939	G	A	ARHGEF40	c.1050G>A	NM_018071.5	NP_060541.3:p.(Leu350=)	NC_000014.8:g.21542939G>A	(Likely) benign	1 lab	bbe8c6ae8b
15:89392963 ACAN G>A	15	89392963	89392963	G	A	ACAN	c.2026+1G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89392963G>A	(Likely) pathogenic	1 lab	bbe93fd2dc
15:89864972 POLG C>A	15	89864972	89864972	C	A	POLG	c.2593G>T	NM_002693.3	NP_002684.1:p.(Ala865Ser)	NC_000015.9:g.89864972C>A	VUS	1 lab	bbe9dddc71
17:4700993 PSMB6 C>G	17	4700993	4700993	C	G	PSMB6	c.319C>G	NM_002798.3	NP_002789.1:p.(Pro107Ala)	NC_000017.10:g.4700993C>G	(Likely) benign	1 lab	bbeaee61b0
7:151938434 KMT2C C>T	7	151938434	151938434	C	T	KMT2C	c.2533-2523G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151938434C>T	(Likely) benign	1 lab	bbeb2c5688
22:25603066 CRYBB3 C>T	22	25603066	25603066	C	T	CRYBB3	c.523C>T	NM_004076.5	NP_004067.1:p.(Arg175Trp)	NC_000022.10:g.25603066C>T	VUS	1 lab	bbeb5eafa9
19:48809585 ODAD1 G>C	19	48809585	48809585	G	C	ODAD1	c.598-5C>G	NM_001364171.2	NP_001351100.1:p.?	NC_000019.9:g.48809585G>C	VUS	1 lab	bbedc6f69d
19:1109595 SBNO2 G>T	19	1109595	1109595	G	T	SBNO2	c.3126C>A	NM_014963.3	NP_055778.2:p.(Ile1042=)	NC_000019.9:g.1109595G>T	(Likely) benign	1 lab	bbf0524454
12:56094816 ITGA7 C>T	12	56094816	56094816	C	T	ITGA7	c.537G>A	NM_002206.3	NP_002197.2:p.(Gly179=)	NC_000012.11:g.56094816C>T	(Likely) benign	1 lab	bbf23d7c95
1:144931330 PDE4DIP C>T	1	144931330	144931330	C	T	PDE4DIP	c.835-7509G>A	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144931330C>T	VUS	1 lab	bbf2925644
3:9476168 SETD5 A>G	3	9476168	9476168	A	G	SETD5	c.328A>G	NM_001080517.3	NP_001073986.1:p.(Arg110Gly)	NC_000003.11:g.9476168A>G	(Likely) benign	1 lab	bbf31158d7
X:153009152 ABCD1 C>T	X	153009152	153009152	C	T	ABCD1	c.2201C>T	NM_000033.4	NP_000024.2:p.(Pro734Leu)	NC_000023.10:g.153009152C>T	(Likely) benign	1 lab	bbf3330b24
19:17950382 JAK3 T>G	19	17950382	17950382	T	G	JAK3	c.1345A>C	NM_000215.4	NP_000206.2:p.(Ser449Arg)	NC_000019.9:g.17950382T>G	VUS	1 lab	bbf55f887a
7:48314872 ABCA13 A>G	7	48314872	48314872	A	G	ABCA13	c.5609A>G	NM_152701.5	NP_689914.3:p.(Asp1870Gly)	NC_000007.13:g.48314872A>G	VUS	1 lab	bbf77e0ace
1:8415631 RERE C>A	1	8415631	8415631	C	A	RERE	c.4515G>T	NM_001042681.2	NP_001036146.1:p.(Gly1505=)	NC_000001.10:g.8415631C>A	(Likely) benign	1 lab	bbf7e606e1
16:11643480 LITAF G>A	16	11643480	11643480	G	A	LITAF	c.*13C>T	NM_001136472.2	NP_001129944.1:p.?	NC_000016.9:g.11643480G>A	(Likely) benign	1 lab	bbfb51c3a7
17:36626090 ARHGAP23 G>A	17	36626090	36626090	G	A	ARHGAP23	c.1919G>A	NM_001199417.2	NP_001186346.1:p.(Arg640His)	NC_000017.10:g.36626090G>A	(Likely) benign	1 lab	bbfcd0f914
13:113527652 ATP11A G>A	13	113527652	113527652	G	A	ATP11A	c.3058-235G>A	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113527652G>A	(Likely) benign	1 lab	bbff77d62b
16:3586188 CLUAP1 G>A	16	3586188	3586188	G	A	CLUAP1	c.1159G>A	NM_015041.3	NP_055856.1:p.(Glu387Lys)	NC_000016.9:g.3586188G>A	VUS	1 lab	bbffdd6740
7:94041944 COL1A2 G>A	7	94041944	94041944	G	A	COL1A2	c.1453G>A	NM_000089.4	NP_000080.2:p.(Ala485Thr)	NC_000007.13:g.94041944G>A	VUS	1 lab	bc02695e89
2:42281425 PKDCC C>T	2	42281425	42281425	C	T	PKDCC	c.1012C>T	NM_138370.3	NP_612379.2:p.(Arg338Trp)	NC_000002.11:g.42281425C>T	VUS	1 lab	bc026d9694
4:6304137 WFS1 A>G	4	6304137	6304137	A	G	WFS1	c.2615A>G	NM_006005.3	NP_005996.2:p.(His872Arg)	NC_000004.11:g.6304137A>G	(Likely) benign	1 lab	bc034edb77
5:901451 TRIP13 A>G	5	901451	901451	A	G	TRIP13	c.445-5A>G	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.901451A>G	(Likely) benign	1 lab	bc045bdd8c
12:121432118 HNF1A C>T	12	121432118	121432118	C	T	HNF1A	c.865C>T	NM_000545.8	NP_000536.6:p.(Pro289Ser)	NC_000012.11:g.121432118C>T	(Likely) pathogenic	1 lab	bc047f76c6
11:125886998 CDON T>C	11	125886998	125886998	T	C	CDON	c.913A>G	NM_001378964.1	NP_001365893.1:p.(Met305Val)	NC_000011.9:g.125886998T>C	(Likely) benign	1 lab	bc048e7433
9:37746648 FRMPD1 C>T	9	37746648	37746648	C	T	FRMPD1	c.4619C>T	NM_014907.3	NP_055722.2:p.(Ser1540Leu)	NC_000009.11:g.37746648C>T	VUS	1 lab	bc0742d55a
3:160156075 TRIM59 G>T	3	160156075	160156075	G	T	TRIM59	c.897C>A	NM_173084.3	NP_775107.1:p.(Asn299Lys)	NC_000003.11:g.160156075G>T	VUS	1 lab	bc09134e69
8:61764768 CHD7 A>C	8	61764768	61764768	A	C	CHD7	c.5856A>C	NM_017780.4	NP_060250.2:p.(Glu1952Asp)	NC_000008.10:g.61764768A>C	VUS	1 lab	bc09b30878
6:86351143 SYNCRIP A>T	6	86351143	86351143	A	T	SYNCRIP	c.15T>A	NM_006372.5	NP_006363.4:p.(His5Gln)	NC_000006.11:g.86351143A>T	(Likely) benign	1 lab	bc0a2f8bbb
X:153607943 EMD G>A	X	153607943	153607943	G	A	EMD	c.82+17G>A	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153607943G>A	(Likely) benign	1 lab	29b688ed97
X:107315933 VSIG1 G>A	X	107315933	107315933	G	A	VSIG1	c.439G>A	NM_182607.5	NP_872413.1:p.(Val147Ile)	NC_000023.10:g.107315933G>A	(Likely) benign	1 lab	bc0b45d152
22:41545052 EP300 A>G	22	41545052	41545052	A	G	EP300	c.2252A>G	NM_001429.4	NP_001420.2:p.(Tyr751Cys)	NC_000022.10:g.41545052A>G	VUS	1 lab	bc0bfca6b5
6:116442018 COL10A1 G>A	6	116442018	116442018	G	A	COL10A1	c.1261C>T	NM_000493.4	NP_000484.2:p.(Pro421Ser)	NC_000006.11:g.116442018G>A	(Likely) benign	1 lab	bc0d2e342d
2:219856857 CRYBA2 G>T	2	219856857	219856857	G	T	CRYBA2	c.270C>A	NM_057093.2	NP_476434.1:p.(Asn90Lys)	NC_000002.11:g.219856857G>T	(Likely) benign	1 lab	bc0ecdb027
19:40744001 AKT2 G>C	19	40744001	40744001	G	C	AKT2	c.709-3C>G	NM_001626.6	NP_001617.1:p.?	NC_000019.9:g.40744001G>C	VUS	1 lab	bc0fd20fbc
2:20136015 WDR35 A>C	2	20136015	20136015	A	C	WDR35	c.2379T>G	NM_020779.4	NP_065830.2:p.(Asn793Lys)	NC_000002.11:g.20136015A>C	VUS	1 lab	bc101821f4
7:117250576 CFTR T>C	7	117250576	117250576	T	C	CFTR	c.2992T>C	NM_000492.4	NP_000483.3:p.(Leu998=)	NC_000007.13:g.117250576T>C	(Likely) benign	1 lab	29b7285b08
9:139089389 LHX3 T>G	9	139089389	139089389	T	G	LHX3	c.976A>C	NM_178138.6	NP_835258.1:p.(Ser326Arg)	NC_000009.11:g.139089389T>G	(Likely) benign	1 lab	bc12da89ed
1:92161298 TGFBR3 T>A	1	92161298	92161298	T	A	TGFBR3	c.2368A>T	NM_003243.5	NP_003234.2:p.(Ile790Phe)	NC_000001.10:g.92161298T>A	VUS	1 lab	29ba879a2a
3:47859515 DHX30 G>A	3	47859515	47859515	G	A	DHX30	c.32G>A	NM_138615.3	NP_619520.1:p.(Arg11Gln)	NC_000003.11:g.47859515G>A	VUS	1 lab	bc154b02f2
5:42713621 GHR GGTAGGTGTGGAGTAGTATTCTTTGGTATTTTGTACCA>G	5	42713621	42713660	GGTAGGTGTGGAGTAGTATTCTTTGGTATTTTGTACCA	G	GHR	c.875+3_875+39del	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42713624_42713660del	VUS	1 lab	bc1a9a7936
19:55857920 KMT5C C>T	19	55857920	55857920	C	T	KMT5C	c.760C>T	NM_032701.4	NP_116090.2:p.(Arg254Trp)	NC_000019.9:g.55857920C>T	VUS	1 lab	bc1aa4800d
2:45170030 SIX3 G>C	2	45170030	45170030	G	C	SIX3	c.787G>C	NM_005413.4	NP_005404.1:p.(Ala263Pro)	NC_000002.11:g.45170030G>C	VUS	1 lab	bc1b4445e3
5:14713681 ANKH C>A	5	14713681	14713681	C	A	ANKH	c.1237G>T	NM_054027.6	NP_473368.1:p.(Ala413Ser)	NC_000005.9:g.14713681C>A	(Likely) benign	1 lab	bc1be3380b
14:105411312 AHNAK2 G>C	14	105411312	105411312	G	C	AHNAK2	c.10476C>G	NM_138420.4	NP_612429.2:p.(Ile3492Met)	NC_000014.8:g.105411312G>C	(Likely) benign	1 lab	bc1c955c57
12:65563607 LEMD3 AGCCGCGGGACCAGCGGCGGCGGCG>A	12	65563607	65563639	AGCCGCGGGACCAGCGGCGGCGGCG	A	LEMD3	c.240_263del	NM_014319.5	NP_055134.2:p.(Pro81_Gly88del)	NC_000012.11:g.65563616_65563639del	(Likely) benign	1 lab	bc1ccf0336
19:45852778 KLC3 G>A	19	45852778	45852778	G	A	KLC3	c.1061G>A	NM_177417.3	NP_803136.2:p.(Arg354Gln)	NC_000019.9:g.45852778G>A	(Likely) benign	1 lab	bc205cfbf4
6:117252641 RFX6 T>G	6	117252641	117252641	T	G	RFX6	c.2759T>G	NM_173560.4	NP_775831.2:p.(Phe920Cys)	NC_000006.11:g.117252641T>G	VUS	1 lab	bc22b4ec53
X:70361651 MED12 CA>C	X	70361651	70361662	CA	C	MED12	c.6409-71del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70361662del	(Likely) benign	1 lab	2ba795d2a1
7:65444861 GUSB C>T	7	65444861	65444861	C	T	GUSB	c.434G>A	NM_000181.4	NP_000172.2:p.(Gly145Asp)	NC_000007.13:g.65444861C>T	(Likely) pathogenic	1 lab	bc245e7c1f
2:173356241 ITGA6 C>T	2	173356241	173356241	C	T	ITGA6	c.2978C>T	NM_000210.4	NP_000201.2:p.(Ala993Val)	NC_000002.11:g.173356241C>T	(Likely) benign	1 lab	bc2460d52c
14:102476696 DYNC1H1 A>G	14	102476696	102476696	A	G	DYNC1H1	c.6305A>G	NM_001376.5	NP_001367.2:p.(Asn2102Ser)	NC_000014.8:g.102476696A>G	VUS	1 lab	bc24d64e98
9:100843285 NANS G>A	9	100843285	100843285	G	A	NANS	c.791G>A	NM_018946.4	NP_061819.2:p.(Arg264Gln)	NC_000009.11:g.100843285G>A	(Likely) benign	1 lab	bc252c3ec1
17:79164730 CEP131 G>A	17	79164730	79164730	G	A	CEP131	c.2920C>T	NM_014984.4	NP_055799.2:p.(Arg974Trp)	NC_000017.10:g.79164730G>A	VUS	1 lab	bc26383cb9
X:140996359 MAGEC1 C>T	X	140996359	140996359	C	T	MAGEC1	c.3169C>T	NM_005462.5	NP_005453.2:p.(Arg1057Trp)	NC_000023.10:g.140996359C>T	(Likely) benign	1 lab	bc2be95998
5:176638231 NSD1 G>A	5	176638231	176638231	G	A	NSD1	c.2831G>A	NM_022455.5	NP_071900.2:p.(Cys944Tyr)	NC_000005.9:g.176638231G>A	(Likely) benign	1 lab	bc2e36aad3
1:158654659 SPTA1 G>A	1	158654659	158654659	G	A	SPTA1	c.264+239C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158654659G>A	(Likely) benign	1 lab	2babe04923
10:60573675 BICC1 G>A	10	60573675	60573675	G	A	BICC1	c.2462G>A	NM_001080512.3	NP_001073981.1:p.(Gly821Glu)	NC_000010.10:g.60573675G>A	(Likely) benign	1 lab	2babe52926
6:170592491 DLL1 T>C	6	170592491	170592491	T	C	DLL1	c.1876A>G	NM_005618.4	NP_005609.3:p.(Ser626Gly)	NC_000006.11:g.170592491T>C	(Likely) benign	1 lab	bc30f0e5e7
X:70339260 MED12 A>C	X	70339260	70339260	A	C	MED12	c.137A>C	NM_005120.3	NP_005111.2:p.(Asn46Thr)	NC_000023.10:g.70339260A>C	VUS	1 lab	29bae4f3ad
7:128485199 FLNC C>T	7	128485199	128485199	C	T	FLNC	c.3680C>T	NM_001458.5	NP_001449.3:p.(Thr1227Ile)	NC_000007.13:g.128485199C>T	VUS	1 lab	bc31821b92
19:15290002 NOTCH3 G>C	19	15290002	15290002	G	C	NOTCH3	c.3552C>G	NM_000435.3	NP_000426.2:p.(Asp1184Glu)	NC_000019.9:g.15290002G>C	VUS	1 lab	bc33a62123
19:55870558 GARIN5B G>T	19	55870558	55870558	G	T	GARIN5B	c.1678C>A	NM_001145402.2	NP_001138874.1:p.(Leu560Ile)	NC_000019.9:g.55870558G>T	VUS	1 lab	bc33c8e1a2
9:65506658 SPATA31A7 T>G	9	65506658	65506658	T	G	SPATA31A7	c.902A>C	NM_015667.2	NP_056482.2:p.(His301Pro)	NC_000009.11:g.65506658T>G	(Likely) benign	1 lab	bc3426d504
13:20763720 GJB2 T>C	13	20763720	20763720	T	C	GJB2	c.1A>G	NM_004004.6	NP_003995.2:p.(Met1?)	NC_000013.10:g.20763720T>C	(Likely) pathogenic	1 lab	bc3524a8c8
1:22201010 HSPG2 G>A	1	22201010	22201010	G	A	HSPG2	c.3545C>T	NM_005529.7	NP_005520.4:p.(Thr1182Met)	NC_000001.10:g.22201010G>A	VUS	1 lab	bc3575485c
20:19945641 RIN2 G>A	20	19945641	19945641	G	A	RIN2	c.509G>A	NM_018993.4	NP_061866.1:p.(Arg170Gln)	NC_000020.10:g.19945641G>A	VUS	1 lab	bc36d1e9c7
7:12271532 TMEM106B CTG>C	7	12271532	12271536	CTG	C	TMEM106B	c.759_760del	NM_001134232.2	NP_001127704.1:p.(Cys253TrpfsTer12)	NC_000007.13:g.12271535_12271536del	VUS	1 lab	bc38745645
22:21083685 PI4KA A>C	22	21083685	21083685	A	C	PI4KA	c.4598T>G	NM_058004.4	NP_477352.3:p.(Ile1533Ser)	NC_000022.10:g.21083685A>C	VUS	1 lab	bc39e4a890
5:145838696 TCERG1 C>T	5	145838696	145838696	C	T	TCERG1	c.688C>T	NM_001382548.1	NP_001369477.1:p.(Gln230Ter)	NC_000005.9:g.145838696C>T	VUS	1 lab	bc3adfd0cc
19:50905762 POLD1 T>C	19	50905762	50905762	T	C	POLD1	c.810T>C	NM_002691.4	NP_002682.2:p.(Ala270=)	NC_000019.9:g.50905762T>C	(Likely) benign	1 lab	bc3b2c1b98
1:110169369 AMPD2 G>C	1	110169369	110169369	G	C	AMPD2	c.553G>C	NM_001368809.2	NP_001355738.1:p.(Asp185His)	NC_000001.10:g.110169369G>C	VUS	1 lab	bc3b587e09
19:38935236 RYR1 G>T	19	38935236	38935236	G	T	RYR1	c.550G>T	NM_000540.3	NP_000531.2:p.(Ala184Ser)	NC_000019.9:g.38935236G>T	VUS	1 lab	bc3b94ead0
8:116510457 TRPS1 T>C	8	116510457	116510457	T	C	TRPS1	c.2701-79777A>G	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116510457T>C	(Likely) benign	1 lab	bc3cc675a8
17:8455464 MYH10 T>C	17	8455464	8455464	T	C	MYH10	c.821-2A>G	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8455464T>C	VUS	1 lab	bc3cd768e0
12:7842655 GDF3 A>G	12	7842655	7842655	A	G	GDF3	c.914T>C	NM_020634.3	NP_065685.1:p.(Leu305Pro)	NC_000012.11:g.7842655A>G	VUS	1 lab	bc3f13d433
2:216272884 FN1 A>G	2	216272884	216272884	A	G	FN1	c.2465T>C	NM_212482.4	NP_997647.2:p.(Val822Ala)	NC_000002.11:g.216272884A>G	VUS	1 lab	bc40814e36
19:15303174 NOTCH3 T>C	19	15303174	15303174	T	C	NOTCH3	c.340+14A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15303174T>C	(Likely) benign	1 lab	bc40b27c5c
6:152771896 SYNE1 T>C	6	152771896	152771896	T	C	SYNE1	c.3259A>G	NM_182961.4	NP_892006.3:p.(Lys1087Glu)	NC_000006.11:g.152771896T>C	(Likely) benign	1 lab	bc4116e978
22:26701992 SEZ6L TC>T	22	26701992	26701996	TC	T	SEZ6L	c.1400del	NM_021115.5	NP_066938.2:p.(Pro467GlnfsTer40)	NC_000022.10:g.26701996del	VUS	1 lab	bc434ff99e
16:2820450 SRRM2 C>T	16	2820450	2820450	C	T	SRRM2	c.8119C>T	NM_016333.4	NP_057417.3:p.(Pro2707Ser)	NC_000016.9:g.2820450C>T	VUS	1 lab	29bc50959e
11:2799220 KCNQ1 C>T	11	2799220	2799220	C	T	KCNQ1	c.1747C>T	NM_000218.3	NP_000209.2:p.(Arg583Cys)	NC_000011.9:g.2799220C>T	(Likely) pathogenic	1 lab	bc49654187
7:75052268 POM121C T>C	7	75052268	75052268	T	C	POM121C	c.1267A>G	NM_001099415.3	NP_001092885.2:p.(Thr423Ala)	NC_000007.13:g.75052268T>C	(Likely) benign	1 lab	bc4d0ea651
9:139401051 NOTCH1 CT>C	9	139401051	139401053	CT	C	NOTCH1	c.3941del	NM_017617.5	NP_060087.3:p.(Lys1314SerfsTer131)	NC_000009.11:g.139401053del	(Likely) pathogenic	1 lab	bc4ddce41b
5:132219027 AFF4 C>T	5	132219027	132219027	C	T	AFF4	c.3364+5G>A	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132219027C>T	VUS	1 lab	bc4ed399f7
13:100635028 ZIC2 A>C	13	100635028	100635028	A	C	ZIC2	c.710A>C	NM_007129.5	NP_009060.2:p.(His237Pro)	NC_000013.10:g.100635028A>C	VUS	1 lab	bc4f179c67
2:163174519 IFIH1 G>C	2	163174519	163174519	G	C	IFIH1	c.299C>G	NM_022168.4	NP_071451.2:p.(Thr100Arg)	NC_000002.11:g.163174519G>C	(Likely) benign	1 lab	bc5073d5a8
1:154248173 HAX1 G>A	1	154248173	154248173	G	A	HAX1	c.836G>A	NM_006118.4	NP_006109.2:p.(Arg279Gln)	NC_000001.10:g.154248173G>A	VUS	1 lab	bc513cc5f1
17:44111565 KANSL1 G>A	17	44111565	44111565	G	A	KANSL1	c.2628C>T	NM_015443.4	NP_056258.1:p.(Arg876=)	NC_000017.10:g.44111565G>A	(Likely) benign	1 lab	bc5314105b
22:50967935 TYMP G>A	22	50967935	50967935	G	A	TYMP	c.204C>T	NM_001953.5	NP_001944.1:p.(Gly68=)	NC_000022.10:g.50967935G>A	(Likely) benign	1 lab	bc534e11c3
16:2820611 SRRM2 C>CAGT	16	2820611	2820614	C	CAGT	SRRM2	c.8143_8145dup	NM_016333.4	NP_057417.3:p.(Ser2715dup)	NC_000016.9:g.2820612_2820614dup	VUS	1 lab	29bda2f3de
11:17418603 ABCC8 G>A	11	17418603	17418603	G	A	ABCC8	c.3989-10C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17418603G>A	(Likely) benign	1 lab	bc58226e5d
8:118825173 EXT1 C>T	8	118825173	118825173	C	T	EXT1	c.1660G>A	NM_000127.3	NP_000118.2:p.(Asp554Asn)	NC_000008.10:g.118825173C>T	(Likely) benign	1 lab	bc584f5bae
16:89806445 FANCA C>T	16	89806445	89806445	C	T	FANCA	c.3891G>A	NM_000135.4	NP_000126.2:p.(Lys1297=)	NC_000016.9:g.89806445C>T	(Likely) benign	1 lab	bc5a6515e9
11:17464363 ABCC8 A>G	11	17464363	17464363	A	G	ABCC8	c.1534T>C	NM_000352.6	NP_000343.2:p.(Tyr512His)	NC_000011.9:g.17464363A>G	VUS	1 lab	bc5b86d32e
5:14741980 ANKH G>T	5	14741980	14741980	G	T	ANKH	c.967C>A	NM_054027.6	NP_473368.1:p.(His323Asn)	NC_000005.9:g.14741980G>T	VUS	1 lab	bc5c04ae68
19:42858807 MEGF8 G>A	19	42858807	42858807	G	A	MEGF8	c.4079G>A	NM_001271938.2	NP_001258867.1:p.(Arg1360His)	NC_000019.9:g.42858807G>A	(Likely) benign	1 lab	bc5c42a6d0
1:12921311 PRAMEF2 G>A	1	12921311	12921311	G	A	PRAMEF2	c.1102G>A	NM_023014.1	NP_075390.1:p.(Ala368Thr)	NC_000001.10:g.12921311G>A	(Likely) benign	1 lab	bc5d3b3ed3
X:100748683 ARMCX4 G>A	X	100748683	100748683	G	A	ARMCX4	c.5107G>A	NM_001256155.3	NP_001243084.2:p.(Asp1703Asn)	NC_000023.10:g.100748683G>A	(Likely) benign	1 lab	bc5d52ab08
2:179648988 TTN G>T	2	179648988	179648988	G	T	TTN	c.2584C>A	NM_001267550.2	NP_001254479.2:p.(Pro862Thr)	NC_000002.11:g.179648988G>T	VUS	1 lab	bc5f043e7a
15:42983777 STARD9 CT>C	15	42983777	42983778	CT	C	STARD9	c.10002del	NM_020759.3	NP_065810.2:p.(Leu3335PhefsTer4)	NC_000015.9:g.42983778del	VUS	1 lab	bc5f44eee6
16:138677 NPRL3 A>G	16	138677	138677	A	G	NPRL3	c.1544+20T>C	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.138677A>G	(Likely) benign	1 lab	2bb07dba8b
10:124390006 DMBT1 G>A	10	124390006	124390006	G	A	DMBT1	c.6025G>A	NM_001377530.1	NP_001364459.1:p.(Asp2009Asn)	NC_000010.10:g.124390006G>A	VUS	1 lab	bc61e593f7
4:88964585 PKD2 A>G	4	88964585	88964585	A	G	PKD2	c.1295A>G	NM_000297.4	NP_000288.1:p.(Asn432Ser)	NC_000004.11:g.88964585A>G	VUS	1 lab	bc62abb69a
10:103454357 FBXW4 G>GCCT	10	103454357	103454380	G	GCCT	FBXW4	c.503_505dup	NM_022039.4	NP_071322.2:p.(Glu168dup)	NC_000010.10:g.103454378_103454380dup	VUS	1 lab	bc64159b08
17:17696354 RAI1 G>C	17	17696354	17696354	G	C	RAI1	c.92G>C	NM_030665.4	NP_109590.3:p.(Arg31Thr)	NC_000017.10:g.17696354G>C	VUS	1 lab	29c0b07460
X:68060259 EFNB1 G>A	X	68060259	68060259	G	A	EFNB1	c.803G>A	NM_004429.5	NP_004420.1:p.(Arg268Gln)	NC_000023.10:g.68060259G>A	VUS	1 lab	bc65c6cb1f
8:145737962 RECQL4 G>A	8	145737962	145737962	G	A	RECQL4	c.2886-18C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145737962G>A	(Likely) benign	1 lab	2bb0f3bba6
2:179452691 TTN TG>T	2	179452691	179452694	TG	T	TTN	c.63442del	NM_001267550.2	NP_001254479.2:p.(Gln21148LysfsTer12)	NC_000002.11:g.179452694del	(Likely) pathogenic	1 lab	29c2717720
17:7466633 SENP3 AGAG>A	17	7466633	7466650	AGAG	A	SENP3	c.255_257del	NM_015670.6	NP_056485.2:p.(Glu85del)	NC_000017.10:g.7466648_7466650del	(Likely) benign	1 lab	bc6a809da7
10:79552251 DLG5 T>C	10	79552251	79552251	T	C	DLG5	c.5707A>G	NM_004747.4	NP_004738.3:p.(Met1903Val)	NC_000010.10:g.79552251T>C	(Likely) benign	1 lab	bc6b2e7fd0
8:6338338 MCPH1 C>T	8	6338338	6338338	C	T	MCPH1	c.2077C>T	NM_024596.5	NP_078872.3:p.(Arg693Cys)	NC_000008.10:g.6338338C>T	VUS	1 lab	bc6c663380
1:120491656 NOTCH2 G>C	1	120491656	120491656	G	C	NOTCH2	c.2573C>G	NM_024408.4	NP_077719.2:p.(Thr858Ser)	NC_000001.10:g.120491656G>C	(Likely) benign	1 lab	bc6deb13a2
1:225594465 LBR C>A	1	225594465	225594465	C	A	LBR	c.1384G>T	NM_002296.4	NP_002287.2:p.(Val462Leu)	NC_000001.10:g.225594465C>A	VUS	1 lab	bc6ebb0e70
X:153880477 CTAG2 A>G	X	153880477	153880477	A	G	CTAG2	c.469T>C	NM_172377.5	NP_758965.2:p.(Ser157Pro)	NC_000023.10:g.153880477A>G	(Likely) benign	1 lab	bc6fe6e3f0
16:11495173 LOC127883159 T>A	16	11495173	11495173	T	A	LOC127883159				NC_000016.9:g.11495173T>A	VUS	1 lab	bc7053a19e
5:170725815 RANBP17 C>T	5	170725815	170725815	C	T	RANBP17	c.3220C>T	NM_022897.5	NP_075048.1:p.(Arg1074Cys)	NC_000005.9:g.170725815C>T	VUS	1 lab	bc7083f54b
1:181721374 CACNA1E A>T	1	181721374	181721374	A	T	CACNA1E	c.3827A>T	NM_001205293.3	NP_001192222.1:p.(Lys1276Met)	NC_000001.10:g.181721374A>T	VUS	1 lab	bc71e32c51
1:11888236 CLCN6 C>G	1	11888236	11888236	C	G	CLCN6	c.914C>G	NM_001286.5	NP_001277.2:p.(Ser305Cys)	NC_000001.10:g.11888236C>G	VUS	1 lab	bca3d1f5b1
10:75581464 CAMK2G T>C	10	75581464	75581464	T	C	CAMK2G	c.1129A>G	NM_172171.3	NP_751911.1:p.(Thr377Ala)	NC_000010.10:g.75581464T>C	VUS	1 lab	29c3a28105
5:14716863 ANKH C>T	5	14716863	14716863	C	T	ANKH	c.1093G>A	NM_054027.6	NP_473368.1:p.(Glu365Lys)	NC_000005.9:g.14716863C>T	VUS	1 lab	bc74c79fe4
2:152472621 NEB T>C	2	152472621	152472621	T	C	NEB	c.11184A>G	NM_001164508.2	NP_001157980.2:p.(Lys3728=)	NC_000002.11:g.152472621T>C	VUS	1 lab	bc75f7cc7c
8:41529989 ANK1 G>A	8	41529989	41529989	G	A	ANK1	c.4979C>T	NM_000037.4	NP_000028.3:p.(Thr1660Ile)	NC_000008.10:g.41529989G>A	(Likely) benign	1 lab	bc783c3d8f
19:42838303 MEGF8 G>A	19	42838303	42838303	G	A	MEGF8	c.496G>A	NM_001271938.2	NP_001258867.1:p.(Gly166Ser)	NC_000019.9:g.42838303G>A	VUS	1 lab	bc78de486f
X:55247817 PAGE5 T>C	X	55247817	55247817	T	C	PAGE5	c.2T>C	NM_001013435.3	NP_001013453.1:p.(Met1?)	NC_000023.10:g.55247817T>C	(Likely) benign	1 lab	bc798c9962
19:38956954 RYR1 C>T	19	38956954	38956954	C	T	RYR1	c.3094C>T	NM_000540.3	NP_000531.2:p.(Arg1032Cys)	NC_000019.9:g.38956954C>T	VUS	1 lab	bc79cff642
17:79674253 MRPL12 A>G	17	79674253	79674253	A	G	MRPL12	c.580A>G	NM_002949.4	NP_002940.2:p.(Thr194Ala)	NC_000017.10:g.79674253A>G	VUS	1 lab	bc79ed57f9
17:65871805 BPTF TAGC>T	17	65871805	65871812	TAGC	T	BPTF	c.1864+674_1864+676del	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65871810_65871812del	VUS	1 lab	bc7d021338
12:132628430 DDX51 T>C	12	132628430	132628430	T	C	DDX51	c.329A>G	NM_175066.4	NP_778236.2:p.(Glu110Gly)	NC_000012.11:g.132628430T>C	(Likely) benign	1 lab	bc7dfd18ab
11:57886381 OR9I1 CAGA>C	11	57886381	57886392	CAGA	C	OR9I1	c.533_535del	NM_001005211.2	NP_001005211.1:p.(Phe178del)	NC_000011.9:g.57886390_57886392del	VUS	1 lab	bc7e869465
15:90209105 PLIN1 G>A	15	90209105	90209105	G	A	PLIN1	c.1278C>T	NM_002666.5	NP_002657.3:p.(Val426=)	NC_000015.9:g.90209105G>A	(Likely) benign	1 lab	bc7ed616ef
1:16910081 NBPF1 C>T	1	16910081	16910081	C	T	NBPF1	c.1091+8G>A	NM_001405666.3	NP_001392595.1:p.?	NC_000001.10:g.16910081C>T	(Likely) benign	1 lab	bc81fa52d7
21:47787032 PCNT A>G	21	47787032	47787032	A	G	PCNT	c.3143A>G	NM_006031.6	NP_006022.3:p.(His1048Arg)	NC_000021.8:g.47787032A>G	(Likely) benign	1 lab	bc831a0a25
2:176958403 HOXD13 G>T	2	176958403	176958403	G	T	HOXD13	c.781+4G>T	NM_000523.4	NP_000514.2:p.?	NC_000002.11:g.176958403G>T	(Likely) benign	1 lab	bc86ee092a
17:66538153 FAM20A C>T	17	66538153	66538153	C	T	FAM20A	c.1082G>A	NM_017565.4	NP_060035.2:p.(Arg361His)	NC_000017.10:g.66538153C>T	(Likely) benign	1 lab	bc86f79755
4:57367854 SRP72 G>A	4	57367854	57367854	G	A	SRP72	c.1843G>A	NM_006947.4	NP_008878.3:p.(Ala615Thr)	NC_000004.11:g.57367854G>A	(Likely) benign	1 lab	bc87be16eb
22:51158933 SHANK3 C>T	22	51158933	51158933	C	T	SHANK3	c.2897C>T	NM_001372044.2	NP_001358973.1:p.(Ser966Phe)	NC_000022.10:g.51158933C>T	(Likely) benign	1 lab	bc8817e5f1
8:8998606 PPP1R3B C>T	8	8998606	8998606	C	T	PPP1R3B	c.556G>A	NM_024607.4	NP_078883.2:p.(Gly186Ser)	NC_000008.10:g.8998606C>T	(Likely) benign	1 lab	bc888eea49
9:87425486 NTRK2 G>A	9	87425486	87425486	G	A	NTRK2	c.1397-50469G>A	NM_006180.6	NP_006171.2:p.?	NC_000009.11:g.87425486G>A	(Likely) benign	1 lab	bc8b3c3526
5:71494311 MAP1B C>T	5	71494311	71494311	C	T	MAP1B	c.5129C>T	NM_005909.5	NP_005900.2:p.(Ser1710Phe)	NC_000005.9:g.71494311C>T	VUS	1 lab	bc8e81bd20
10:61848005 ANK3 A>G	10	61848005	61848005	A	G	ANK3	c.3440T>C	NM_020987.5	NP_066267.2:p.(Ile1147Thr)	NC_000010.10:g.61848005A>G	VUS	1 lab	bc90615169
10:79567684 DLG5 G>A	10	79567684	79567684	G	A	DLG5	c.4666C>T	NM_004747.4	NP_004738.3:p.(Arg1556Trp)	NC_000010.10:g.79567684G>A	VUS	1 lab	bc911329bc
4:6302831 WFS1 G>T	4	6302831	6302831	G	T	WFS1	c.1309G>T	NM_006005.3	NP_005996.2:p.(Gly437Cys)	NC_000004.11:g.6302831G>T	(Likely) benign	1 lab	bc926df51d
4:123797526 FGF2 G>C	4	123797526	123797526	G	C	FGF2	c.229G>C	NM_001361665.2	NP_001348594.1:p.(Val77Leu)	NC_000004.11:g.123797526G>C	(Likely) benign	1 lab	bc938104b7
11:117691589 FXYD2 C>T	11	117691589	117691589	C	T	FXYD2	c.161G>A	NM_001680.5	NP_001671.2:p.(Gly54Asp)	NC_000011.9:g.117691589C>T	VUS	1 lab	bc943c9ef7
2:27462599 CAD G>A	2	27462599	27462599	G	A	CAD	c.5429G>A	NM_004341.5	NP_004332.2:p.(Arg1810Gln)	NC_000002.11:g.27462599G>A	(Likely) pathogenic	1 lab	bc944dfa76
10:26305796 MYO3A G>A	10	26305796	26305796	G	A	MYO3A	c.556G>A	NM_017433.5	NP_059129.3:p.(Val186Ile)	NC_000010.10:g.26305796G>A	VUS	1 lab	bc94a5169e
19:1466954 APC2 C>T	19	1466954	1466954	C	T	APC2	c.3654C>T	NM_005883.3	NP_005874.1:p.(Pro1218=)	NC_000019.9:g.1466954C>T	(Likely) benign	1 lab	bc95f44947
22:41513656 EP300 T>C	22	41513656	41513656	T	C	EP300	c.560T>C	NM_001429.4	NP_001420.2:p.(Met187Thr)	NC_000022.10:g.41513656T>C	VUS	1 lab	bc964e873a
17:73499039 CASKIN2 G>A	17	73499039	73499039	G	A	CASKIN2	c.2116C>T	NM_020753.5	NP_065804.2:p.(Arg706Trp)	NC_000017.10:g.73499039G>A	VUS	1 lab	bc974b429b
7:590177 PRKAR1B T>C	7	590177	590177	T	C	PRKAR1B	c.1036A>G	NM_001164760.2	NP_001158232.1:p.(Lys346Glu)	NC_000007.13:g.590177T>C	VUS	1 lab	bc97b0335b
8:145003321 PLEC C>T	8	145003321	145003321	C	T	PLEC	c.3210G>A	NM_201384.3	NP_958786.1:p.(Thr1070=)	NC_000008.10:g.145003321C>T	(Likely) benign	1 lab	bc987b2f17
17:26691951 SEBOX G>T	17	26691951	26691951	G	T	SEBOX	c.58C>A	NM_001080837.4	NP_001074306.3:p.(Arg20=)	NC_000017.10:g.26691951G>T	VUS	1 lab	bc98e056a1
1:22149897 LDLRAD2 G>A	1	22149897	22149897	G	A	LDLRAD2	c.*1189G>A	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149897G>A	(Likely) benign	1 lab	bc991f3840
20:746045 SLC52A3 G>T	20	746045	746045	G	T	SLC52A3	c.374C>A	NM_033409.4	NP_212134.3:p.(Thr125Asn)	NC_000020.10:g.746045G>T	VUS	1 lab	bc9f44a670
17:57125081 TRIM37 T>C	17	57125081	57125081	T	C	TRIM37	c.1630A>G	NM_015294.6	NP_056109.1:p.(Ser544Gly)	NC_000017.10:g.57125081T>C	VUS	1 lab	bc9f58e4ae
20:44520312 CTSA C>T	20	44520312	44520312	C	T	CTSA	c.105C>T	NM_000308.4	NP_000299.3:p.(Ile35=)	NC_000020.10:g.44520312C>T	(Likely) benign	1 lab	bca12970c8
11:44255793 EXT2 G>A	11	44255793	44255793	G	A	EXT2	c.1935G>A	NM_207122.2	NP_997005.1:p.(Lys645=)	NC_000011.9:g.44255793G>A	VUS	1 lab	bca22b0e03
2:166897983 SCN1A G>A	2	166897983	166897983	G	A	SCN1A	c.2177-4C>T	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897983G>A	(Likely) benign	1 lab	bca49cd611
4:1902674 NSD2 T>G	4	1902674	1902674	T	G	NSD2	c.293T>G	NM_001042424.3	NP_001035889.1:p.(Leu98Arg)	NC_000004.11:g.1902674T>G	VUS	1 lab	bca6737ff2
1:2160243 SKI C>A	1	2160243	2160243	C	A	SKI	c.38C>A	NM_003036.4	NP_003027.1:p.(Pro13Gln)	NC_000001.10:g.2160243C>A	VUS	1 lab	bca9e2fbb4
1:22816374 ZBTB40 G>A	1	22816374	22816374	G	A	ZBTB40	c.-68G>A	NM_014870.4	NP_055685.3:p.?	NC_000001.10:g.22816374G>A	VUS	1 lab	bca9ebb685
4:1806188 FGFR3 A>G	4	1806188	1806188	A	G	FGFR3	c.1207A>G	NM_000142.5	NP_000133.1:p.(Lys403Glu)	NC_000004.11:g.1806188A>G	VUS	1 lab	bcaa4c664c
10:82049155 MAT1A A>G	10	82049155	82049155	A	G	MAT1A	c.25T>C	NM_000429.3	NP_000420.1:p.(Cys9Arg)	NC_000010.10:g.82049155A>G	VUS	1 lab	bcaa85d968
6:51695714 PKHD1 C>G	6	51695714	51695714	C	G	PKHD1	c.8247G>C	NM_138694.4	NP_619639.3:p.(Trp2749Cys)	NC_000006.11:g.51695714C>G	VUS	1 lab	bcaad1415d
13:100982911 PCCA C>T	13	100982911	100982911	C	T	PCCA	c.1526C>T	NM_000282.4	NP_000273.2:p.(Pro509Leu)	NC_000013.10:g.100982911C>T	VUS	1 lab	bcabbbbfac
12:124403499 DNAH10 G>A	12	124403499	124403499	G	A	DNAH10	c.11506+3G>A	NM_001372106.1	NP_001359035.1:p.?	NC_000012.11:g.124403499G>A	(Likely) benign	1 lab	bcac4d46d8
19:46281767 DMPK G>A	19	46281767	46281767	G	A	DMPK	c.565C>T	NM_004409.5	NP_004400.4:p.(Leu189Phe)	NC_000019.9:g.46281767G>A	VUS	1 lab	bcac81f287
17:42990768 GFAP G>A	17	42990768	42990768	G	A	GFAP	c.649C>T	NM_002055.5	NP_002046.1:p.(Arg217Ter)	NC_000017.10:g.42990768G>A	VUS	1 lab	bcada3f3ac
18:77090063 ATP9B A>G	18	77090063	77090063	A	G	ATP9B	c.1987A>G	NM_198531.5	NP_940933.3:p.(Met663Val)	NC_000018.9:g.77090063A>G	VUS	1 lab	bcadc5d405
17:40693048 NAGLU C>T	17	40693048	40693048	C	T	NAGLU	c.845C>T	NM_000263.4	NP_000254.2:p.(Ala282Val)	NC_000017.10:g.40693048C>T	VUS	1 lab	29c7f1cbc1
15:90209176 PLIN1 G>A	15	90209176	90209176	G	A	PLIN1	c.1210-3C>T	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90209176G>A	VUS	1 lab	bcae3908bf
13:110826259 COL4A1 T>C	13	110826259	110826259	T	C	COL4A1	c.3493A>G	NM_001845.6	NP_001836.3:p.(Lys1165Glu)	NC_000013.10:g.110826259T>C	VUS	1 lab	bcae84fb7d
16:2814695 SRRM2 A>C	16	2814695	2814695	A	C	SRRM2	c.4166A>C	NM_016333.4	NP_057417.3:p.(Asp1389Ala)	NC_000016.9:g.2814695A>C	(Likely) benign	1 lab	bcaf4fd308
16:88871972 CDT1 G>A	16	88871972	88871972	G	A	CDT1	c.613G>A	NM_030928.4	NP_112190.2:p.(Gly205Ser)	NC_000016.9:g.88871972G>A	(Likely) benign	1 lab	bcb080ec5c
1:120468346 NOTCH2 GGGGTCCAGAGGC>G	1	120468346	120468360	GGGGTCCAGAGGC	G	NOTCH2	c.4081_4092del	NM_024408.4	NP_077719.2:p.(Ala1361_Pro1364del)	NC_000001.10:g.120468349_120468360del	VUS	1 lab	bcb45ed273
3:134967350 EPHB1 G>A	3	134967350	134967350	G	A	EPHB1	c.2689G>A	NM_004441.5	NP_004432.1:p.(Val897Met)	NC_000003.11:g.134967350G>A	VUS	1 lab	bcb4e77abf
X:71715089 HDAC8 T>C	X	71715089	71715089	T	C	HDAC8	c.467A>G	NM_018486.3	NP_060956.1:p.(Asn156Ser)	NC_000023.10:g.71715089T>C	VUS	1 lab	bcb6793800
19:1105690 GPX4 G>A	19	1105690	1105690	G	A	GPX4	c.358G>A	NM_002085.5	NP_002076.2:p.(Ala120Thr)	NC_000019.9:g.1105690G>A	(Likely) benign	1 lab	bce02ca96d
11:2905137 CDKN1C G>A	11	2905137	2905137	G	A	CDKN1C	c.*14C>T	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2905137G>A	VUS	1 lab	bcb9cc3d8f
1:155324311 ASH1L T>C	1	155324311	155324311	T	C	ASH1L	c.7166A>G	NM_018489.3	NP_060959.2:p.(Tyr2389Cys)	NC_000001.10:g.155324311T>C	VUS	1 lab	bcbe2f2831
2:170072764 LRP2 A>T	2	170072764	170072764	A	T	LRP2	c.5825T>A	NM_004525.3	NP_004516.2:p.(Val1942Glu)	NC_000002.11:g.170072764A>T	VUS	1 lab	bcbe5b8c44
15:82523274 EFL1 C>T	15	82523274	82523274	C	T	EFL1	c.770G>A	NM_024580.6	NP_078856.4:p.(Gly257Asp)	NC_000015.9:g.82523274C>T	VUS	1 lab	bcc03c24cd
8:22049601 BMP1 C>T	8	22049601	22049601	C	T	BMP1	c.1117C>T	NM_006129.5	NP_006120.1:p.(Arg373Cys)	NC_000008.10:g.22049601C>T	VUS	1 lab	bcc3e18745
18:10780353 PIEZO2 A>G	18	10780353	10780353	A	G	PIEZO2	c.2504T>C	NM_001378183.1	NP_001365112.1:p.(Val835Ala)	NC_000018.9:g.10780353A>G	VUS	1 lab	bcc4734fcb
6:29635405 MOG CT>C	6	29635405	29635410	CT	C	MOG	c.551-10del	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29635410del	VUS	1 lab	bcc4758427
14:67745985 PALS1 G>A	14	67745985	67745985	G	A	PALS1	c.98G>A	NM_022474.4	NP_071919.2:p.(Arg33Gln)	NC_000014.8:g.67745985G>A	VUS	1 lab	bcc53c438a
2:220083279 ABCB6 C>T	2	220083279	220083279	C	T	ABCB6	c.117G>A	NM_005689.4	NP_005680.1:p.(Leu39=)	NC_000002.11:g.220083279C>T	(Likely) benign	1 lab	29cbbc8f6d
5:58511603 PDE4D A>G	5	58511603	58511603	A	G	PDE4D	c.647T>C	NM_001104631.2	NP_001098101.1:p.(Ile216Thr)	NC_000005.9:g.58511603A>G	VUS	1 lab	bcc6a54db3
12:113596758 CFAP73 C>T	12	113596758	113596758	C	T	CFAP73	c.*264C>T	NM_001144872.3	NP_001138344.1:p.?	NC_000012.11:g.113596758C>T	(Likely) benign	1 lab	bcc79b4ede
11:62457781 BSCL2 C>T	11	62457781	62457781	C	T	BSCL2	c.*58G>A	NM_001122955.4	NP_001116427.1:p.?	NC_000011.9:g.62457781C>T	(Likely) benign	1 lab	bcc7d124d7
2:113509891 CKAP2L T>C	2	113509891	113509891	T	C	CKAP2L	c.1555A>G	NM_152515.5	NP_689728.3:p.(Ser519Gly)	NC_000002.11:g.113509891T>C	(Likely) benign	1 lab	bcc859e27c
4:103808586 CISD2 A>C	4	103808586	103808586	A	C	CISD2	c.407A>C	NM_001008388.5	NP_001008389.1:p.(Ter136SerextTer1)	NC_000004.11:g.103808586A>C	(Likely) benign	1 lab	bcc8afcd59
13:77651290 MYCBP2 G>A	13	77651290	77651290	G	A	MYCBP2	c.11717C>T	NM_015057.5	NP_055872.4:p.(Thr3906Met)	NC_000013.10:g.77651290G>A	VUS	1 lab	bcc94d26a8
7:100283890 GIGYF1 GTCC>G	7	100283890	100283898	GTCC	G	GIGYF1	c.858_860del	NM_001375765.1	NP_001362694.1:p.(Glu286del)	NC_000007.13:g.100283896_100283898del	VUS	1 lab	bcca0ee901
3:38539118 EXOG A>T	3	38539118	38539118	A	T	EXOG	c.164-2A>T	NM_005107.4	NP_005098.2:p.?	NC_000003.11:g.38539118A>T	(Likely) benign	1 lab	bcca6249ff
20:60902011 LAMA5 G>A	20	60902011	60902011	G	A	LAMA5	c.5124C>T	NM_005560.6	NP_005551.3:p.(Tyr1708=)	NC_000020.10:g.60902011G>A	(Likely) benign	1 lab	bccb6803f4
2:197298039 HECW2 T>C	2	197298039	197298039	T	C	HECW2	c.109A>G	NM_001348768.2	NP_001335697.1:p.(Met37Val)	NC_000002.11:g.197298039T>C	VUS	1 lab	bccc926fb4
5:140237320 PCDHA1 G>C	5	140237320	140237320	G	C	PCDHA1	c.2394+69051G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140237320G>C	VUS	1 lab	bccdbe32c2
17:60108807 MED13 G>C	17	60108807	60108807	G	C	MED13	c.1007C>G	NM_005121.3	NP_005112.2:p.(Thr336Arg)	NC_000017.10:g.60108807G>C	VUS	1 lab	bcd1774d60
11:59189577 OR5A2 G>A	11	59189577	59189577	G	A	OR5A2	c.850C>T	NM_001001954.2	NP_001001954.1:p.(Pro284Ser)	NC_000011.9:g.59189577G>A	VUS	1 lab	bcd5381533
10:79742011 POLR3A C>T	10	79742011	79742011	C	T	POLR3A	c.3660G>A	NM_007055.4	NP_008986.2:p.(Lys1220=)	NC_000010.10:g.79742011C>T	(Likely) benign	1 lab	bcd7db9bd9
8:77761785 ZFHX4 A>T	8	77761785	77761785	A	T	ZFHX4	c.3683A>T	NM_024721.5	NP_078997.4:p.(Asp1228Val)	NC_000008.10:g.77761785A>T	(Likely) benign	1 lab	bcd91cc2a8
18:72997873 TSHZ1 A>C	18	72997873	72997873	A	C	TSHZ1	c.511A>C	NM_001308210.2	NP_001295139.1:p.(Thr171Pro)	NC_000018.9:g.72997873A>C	(Likely) benign	1 lab	bcd9aaec12
6:105526501 LIN28B A>G	6	105526501	105526501	A	G	LIN28B	c.596A>G	NM_001004317.4	NP_001004317.1:p.(His199Arg)	NC_000006.11:g.105526501A>G	(Likely) benign	1 lab	bcda7b5def
13:53624385 OLFM4 A>G	13	53624385	53624385	A	G	OLFM4	c.1012A>G	NM_006418.5	NP_006409.3:p.(Met338Val)	NC_000013.10:g.53624385A>G	VUS	1 lab	bcda8f4662
17:8793372 PIK3R5 G>C	17	8793372	8793372	G	C	PIK3R5	c.729C>G	NM_001142633.3	NP_001136105.1:p.(Ile243Met)	NC_000017.10:g.8793372G>C	VUS	1 lab	bcda9b62ff
12:121437384 HNF1A C>A	12	121437384	121437384	C	A	HNF1A	c.1722C>A	NM_000545.8	NP_000536.6:p.(Ser574Arg)	NC_000012.11:g.121437384C>A	(Likely) benign	1 lab	bcdc1482f5
8:22146113 PIWIL2 A>G	8	22146113	22146113	A	G	PIWIL2	c.920A>G	NM_018068.5	NP_060538.2:p.(Gln307Arg)	NC_000008.10:g.22146113A>G	(Likely) benign	1 lab	bcdd755867
19:36339295 NPHS1 A>G	19	36339295	36339295	A	G	NPHS1	c.1175T>C	NM_004646.3	NP_004637.1:p.(Leu392Pro)	NC_000019.9:g.36339295A>G	(Likely) benign	1 lab	2bbd8bcc45
X:153033768 PLXNB3 C>A	X	153033768	153033768	C	A	PLXNB3	c.1151C>A	NM_005393.3	NP_005384.2:p.(Pro384His)	NC_000023.10:g.153033768C>A	VUS	1 lab	bce201ba52
16:2106741 TSC2 G>A	16	2106741	2106741	G	A	TSC2	c.745G>A	NM_000548.5	NP_000539.2:p.(Val249Ile)	NC_000016.9:g.2106741G>A	VUS	1 lab	29d124abe6
16:51173929 SALL1 T>C	16	51173929	51173929	T	C	SALL1	c.2204A>G	NM_002968.3	NP_002959.2:p.(Lys735Arg)	NC_000016.9:g.51173929T>C	VUS	1 lab	bce4d97a86
13:111294796 CARS2 C>T	13	111294796	111294796	C	T	CARS2	c.1489G>A	NM_024537.4	NP_078813.1:p.(Val497Ile)	NC_000013.10:g.111294796C>T	(Likely) benign	1 lab	bce54f0d65
14:74416768 FAM161B AGTGGCAGCAGCG>A	14	74416768	74416788	AGTGGCAGCAGCG	A	FAM161B	c.-51_-40del	NM_152445.3	NP_689658.3:p.?	NC_000014.8:g.74416777_74416788del	VUS	1 lab	bce58dfe76
16:72821618 ZFHX3 ACCG>A	16	72821618	72821635	ACCG	A	ZFHX3	c.10554_10556del	NM_006885.4	NP_008816.3:p.(Gly3527del)	NC_000016.9:g.72821633_72821635del	VUS	1 lab	bce7757ca7
9:127245186 NR5A1 C>G	9	127245186	127245186	C	G	NR5A1	c.1237G>C	NM_004959.5	NP_004950.2:p.(Gly413Arg)	NC_000009.11:g.127245186C>G	(Likely) benign	1 lab	bce81054d2
8:144621152 ZC3H3 G>A	8	144621152	144621152	G	A	ZC3H3	c.385C>T	NM_015117.3	NP_055932.2:p.(Pro129Ser)	NC_000008.10:g.144621152G>A	VUS	1 lab	bce9c2ed87
12:57626075 SHMT2 C>T	12	57626075	57626075	C	T	SHMT2	c.594C>T	NM_005412.6	NP_005403.2:p.(Asn198=)	NC_000012.11:g.57626075C>T	(Likely) benign	1 lab	bceaf1e70d
5:176831177 F12 T>TC	5	176831177	176831186	T	TC	F12	c.1018+19dup	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176831186dup	(Likely) benign	1 lab	2bbd8e8386
8:27637760 ESCO2 G>A	8	27637760	27637760	G	A	ESCO2	c.931G>A	NM_001017420.3	NP_001017420.1:p.(Asp311Asn)	NC_000008.10:g.27637760G>A	(Likely) benign	1 lab	bceb0fe8f0
6:146262957 SHPRH T>A	6	146262957	146262957	T	A	SHPRH	c.2292A>T	NM_001042683.3	NP_001036148.2:p.(Glu764Asp)	NC_000006.11:g.146262957T>A	VUS	1 lab	bceb9241d9
12:49392123 DDN G>T	12	49392123	49392123	G	T	DDN	c.536C>A	NM_015086.2	NP_055901.2:p.(Ala179Glu)	NC_000012.11:g.49392123G>T	VUS	1 lab	bcec019fd7
4:55561810 KIT C>G	4	55561810	55561810	C	G	KIT	c.200C>G	NM_000222.3	NP_000213.1:p.(Thr67Ser)	NC_000004.11:g.55561810C>G	(Likely) benign	1 lab	bcecfa42fd
17:6513369 KIAA0753 G>A	17	6513369	6513369	G	A	KIAA0753	c.1657C>T	NM_014804.3	NP_055619.2:p.(Arg553Cys)	NC_000017.10:g.6513369G>A	VUS	1 lab	bcfc080179
3:51661637 RAD54L2 C>T	3	51661637	51661637	C	T	RAD54L2	c.208C>T	NM_015106.4	NP_055921.2:p.(Arg70Trp)	NC_000003.11:g.51661637C>T	(Likely) benign	1 lab	bced26d855
14:103404645 CDC42BPB G>A	14	103404645	103404645	G	A	CDC42BPB	c.4931C>T	NM_006035.4	NP_006026.3:p.(Ser1644Leu)	NC_000014.8:g.103404645G>A	VUS	1 lab	bcefc576c3
15:102300317 MISSING CACTCGCGTGGGAACGAGAAGACACTCGTGGAGGCGTTGGCAGAGCAGGCAGACCAAGGAGTTCATCTTCTCAGAGCTGCTGTCCAACCTGT>C	15	102300317	102300444	CACTCGCGTGGGAACGAGAAGACACTCGTGGAGGCGTTGGCAGAGCAGGCAGACCAAGGAGTTCATCTTCTCAGAGCTGCTGTCCAACCTGT	C	MISSING				NC_000015.9:g.102300354_102300444del	(Likely) benign	1 lab	bcefedd458
16:58633166 CNOT1 G>A	16	58633166	58633166	G	A	CNOT1	c.76C>T	NM_016284.5	NP_057368.3:p.(Arg26Ter)	NC_000016.9:g.58633166G>A	(Likely) pathogenic	1 lab	bcf1f8a356
18:55992258 NEDD4L T>C	18	55992258	55992258	T	C	NEDD4L	c.544T>C	NM_001144967.3	NP_001138439.1:p.(Ser182Pro)	NC_000018.9:g.55992258T>C	(Likely) benign	1 lab	bcf2e3c68c
21:46935074 SLC19A1 A>G	21	46935074	46935074	A	G	SLC19A1	c.*498T>C	NM_194255.4	NP_919231.1:p.?	NC_000021.8:g.46935074A>G	VUS	1 lab	bcf4835403
6:26189114 H4C4 T>C	6	26189114	26189114	T	C	H4C4	c.191A>G	NM_003539.4	NP_003530.1:p.(Glu64Gly)	NC_000006.11:g.26189114T>C	VUS	1 lab	bcf515a2b1
8:23564083 NKX2-6 G>C	8	23564083	23564083	G	C	NKX2-6	c.29C>G	NM_001136271.3	NP_001129743.2:p.(Pro10Arg)	NC_000008.10:g.23564083G>C	VUS	1 lab	bcf57e6020
11:68181222 LRP5 T>C	11	68181222	68181222	T	C	LRP5	c.2569T>C	NM_002335.4	NP_002326.2:p.(Tyr857His)	NC_000011.9:g.68181222T>C	VUS	1 lab	bcf6461a18
17:26912199 SPAG5 C>T	17	26912199	26912199	C	T	SPAG5	c.1988G>A	NM_006461.4	NP_006452.3:p.(Arg663Gln)	NC_000017.10:g.26912199C>T	VUS	1 lab	bcf8dd432a
2:176857109 LNPK T>C	2	176857109	176857109	T	C	LNPK	c.107A>G	NM_030650.3	NP_085153.1:p.(Gln36Arg)	NC_000002.11:g.176857109T>C	VUS	1 lab	bcf95feb5b
6:152675868 SYNE1 C>T	6	152675868	152675868	C	T	SYNE1	c.10852G>A	NM_182961.4	NP_892006.3:p.(Glu3618Lys)	NC_000006.11:g.152675868C>T	VUS	1 lab	bcfa1629cd
16:16253383 ABCC6 C>T	16	16253383	16253383	C	T	ABCC6	c.3691G>A	NM_001171.6	NP_001162.5:p.(Val1231Met)	NC_000016.9:g.16253383C>T	VUS	1 lab	bcfa6aa281
11:17408904 KCNJ11 AC>A	11	17408904	17408907	AC	A	KCNJ11	c.734del	NM_000525.4	NP_000516.3:p.(Gly245ValfsTer11)	NC_000011.9:g.17408907del	(Likely) pathogenic	1 lab	bcfb2efc41
13:39431835 FREM2 C>T	13	39431835	39431835	C	T	FREM2	c.7057-177C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39431835C>T	(Likely) benign	1 lab	2bbdfd4346
15:41187039 VPS18 G>A	15	41187039	41187039	G	A	VPS18	c.73G>A	NM_020857.3	NP_065908.1:p.(Val25Met)	NC_000015.9:g.41187039G>A	VUS	1 lab	bcff7f9209
X:49598460 PAGE4 C>A	X	49598460	49598460	C	A	PAGE4	c.304C>A	NM_007003.4	NP_008934.1:p.(Pro102Thr)	NC_000023.10:g.49598460C>A	(Likely) benign	1 lab	bcffff9d21
12:121434074 HNF1A A>G	12	121434074	121434074	A	G	HNF1A	c.965A>G	NM_000545.8	NP_000536.6:p.(Tyr322Cys)	NC_000012.11:g.121434074A>G	VUS	1 lab	bd0001dc6e
21:43274890 PRDM15 G>A	21	43274890	43274890	G	A	PRDM15	c.323C>T	NM_001040424.3	NP_001035514.2:p.(Thr108Ile)	NC_000021.8:g.43274890G>A	VUS	1 lab	bd01368202
2:179642284 TTN T>C	2	179642284	179642284	T	C	TTN	c.4508A>G	NM_001267550.2	NP_001254479.2:p.(His1503Arg)	NC_000002.11:g.179642284T>C	(Likely) benign	1 lab	bd02882cc2
11:67803856 NDUFS8 A>T	11	67803856	67803856	A	T	NDUFS8	c.501+8A>T	NM_002496.4	NP_002487.1:p.?	NC_000011.9:g.67803856A>T	(Likely) benign	1 lab	bd02f0b939
11:108155126 ATM G>A	11	108155126	108155126	G	A	ATM	c.3919G>A	NM_000051.4	NP_000042.3:p.(Gly1307Arg)	NC_000011.9:g.108155126G>A	VUS	1 lab	bd059315cd
2:48132726 FBXO11 G>GGCTGCTGCTGGGGCA	2	48132726	48132741	G	GGCTGCTGCTGGGGCA	FBXO11	c.133_134insTGCCCCAGCAGCAGC	NM_001190274.2	NP_001177203.1:p.(Gln44_Pro45insLeuProGlnGlnGln)	NC_000002.11:g.48132740_48132741insAGCTGCTGCTGGGGC	VUS	1 lab	bd060b3c4e
22:26388398 MYO18B C>T	22	26388398	26388398	C	T	MYO18B	c.6226C>T	NM_032608.7	NP_115997.5:p.(Arg2076Trp)	NC_000022.10:g.26388398C>T	(Likely) benign	1 lab	bd09973949
1:1271871 DVL1 C>T	1	1271871	1271871	C	T	DVL1	c.1739G>A	NM_001330311.2	NP_001317240.1:p.(Arg580Gln)	NC_000001.10:g.1271871C>T	(Likely) benign	1 lab	bd09af1948
16:2141571 PKD1 CGT>C	16	2141571	2141574	CGT	C	PKD1	c.11563_11564del	NM_001009944.3	NP_001009944.3:p.(Thr3855AlafsTer105)	NC_000016.9:g.2141573_2141574del	(Likely) pathogenic	1 lab	bd0bc2efad
5:134079721 CAMLG A>C	5	134079721	134079721	A	C	CAMLG	c.678A>C	NM_001745.4	NP_001736.1:p.(Gly226=)	NC_000005.9:g.134079721A>C	VUS	1 lab	bd0c5d3f17
6:32006291 CYP21A2 C>T	6	32006291	32006291	C	T	CYP21A2	c.92C>T	NM_000500.9	NP_000491.4:p.(Pro31Leu)	NC_000006.11:g.32006291C>T	(Likely) pathogenic	1 lab	bd0cb0f735
22:27019234 CRYBA4 C>T	22	27019234	27019234	C	T	CRYBA4	c.76C>T	NM_001886.3	NP_001877.1:p.(Arg26Trp)	NC_000022.10:g.27019234C>T	(Likely) benign	1 lab	bd0df00d07
7:124465337 POT1 C>A	7	124465337	124465337	C	A	POT1	c.1761G>T	NM_015450.3	NP_056265.2:p.(Met587Ile)	NC_000007.13:g.124465337C>A	VUS	1 lab	bd0f9102d3
5:140774072 PCDHGB4 C>A	5	140774072	140774072	C	A	PCDHGB4	c.2397+4224C>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140774072C>A	VUS	1 lab	bd105e8be9
22:18894210 DGCR6 G>C	22	18894210	18894210	G	C	DGCR6	c.243G>C	NM_005675.6	NP_005666.2:p.(Gln81His)	NC_000022.10:g.18894210G>C	(Likely) benign	1 lab	bd13411040
20:62198793 HELZ2 G>A	20	62198793	62198793	G	A	HELZ2	c.1918C>T	NM_001037335.2	NP_001032412.2:p.(Arg640Trp)	NC_000020.10:g.62198793G>A	(Likely) benign	1 lab	bd1729bbf6
16:89577003 SPG7 A>G	16	89577003	89577003	A	G	SPG7	c.286+3A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89577003A>G	VUS	1 lab	bd17c2acbe
16:1391150 BAIAP3 A>C	16	1391150	1391150	A	C	BAIAP3	c.489A>C	NM_001199097.2	NP_001186026.1:p.(Lys163Asn)	NC_000016.9:g.1391150A>C	VUS	1 lab	bd1ad4e070
20:2444497 SNRPB T>C	20	2444497	2444497	T	C	SNRPB	c.316A>G	NM_003091.4	NP_003082.1:p.(Ile106Val)	NC_000020.10:g.2444497T>C	VUS	1 lab	bd1ca9a818
9:39103742 CNTNAP3 A>C	9	39103742	39103742	A	C	CNTNAP3	c.2535T>G	NM_033655.5	NP_387504.2:p.(Arg845=)	NC_000009.11:g.39103742A>C	(Likely) benign	1 lab	bd1d1d11ec
2:102632416 IL1R2 C>T	2	102632416	102632416	C	T	IL1R2	c.416C>T	NM_004633.4	NP_004624.1:p.(Pro139Leu)	NC_000002.11:g.102632416C>T	VUS	1 lab	bd1f6a22c7
20:44675041 SLC12A5 C>A	20	44675041	44675041	C	A	SLC12A5	c.1753C>A	NM_020708.5	NP_065759.1:p.(Pro585Thr)	NC_000020.10:g.44675041C>A	VUS	1 lab	bd1f713cb2
9:35802215 NPR2 G>A	9	35802215	35802215	G	A	NPR2	c.1645G>A	NM_003995.4	NP_003986.2:p.(Ala549Thr)	NC_000009.11:g.35802215G>A	VUS	1 lab	bd209776fe
1:155311728 ASH1L G>A	1	155311728	155311728	G	A	ASH1L	c.8459C>T	NM_018489.3	NP_060959.2:p.(Ser2820Leu)	NC_000001.10:g.155311728G>A	(Likely) benign	1 lab	bd20a29fb9
1:27875464 AHDC1 G>C	1	27875464	27875464	G	C	AHDC1	c.3163C>G	NM_001371928.1	NP_001358857.1:p.(Arg1055Gly)	NC_000001.10:g.27875464G>C	VUS	1 lab	bd21db67fc
12:102869500 IGF1 C>T	12	102869500	102869500	C	T	IGF1	c.141G>A	NM_000618.5	NP_000609.1:p.(Thr47=)	NC_000012.11:g.102869500C>T	(Likely) benign	1 lab	bd235d7d1d
21:47546007 COL6A2 G>A	21	47546007	47546007	G	A	COL6A2	c.2278G>A	NM_001849.4	NP_001840.3:p.(Gly760Arg)	NC_000021.8:g.47546007G>A	VUS	1 lab	bd24901949
10:88458996 LDB3 TTCTCTCTC>T	10	88458996	88459025	TTCTCTCTC	T	LDB3	c.896+6690_896+6697del	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88459018_88459025del	(Likely) benign	1 lab	bd24ac3f0c
11:66468404 SPTBN2 G>A	11	66468404	66468404	G	A	SPTBN2	c.3166C>T	NM_006946.4	NP_008877.2:p.(Arg1056Cys)	NC_000011.9:g.66468404G>A	VUS	1 lab	bd263b3b62
1:161495338 HSPA6 C>A	1	161495338	161495338	C	A	HSPA6	c.890C>A	NM_002155.5	NP_002146.2:p.(Thr297Lys)	NC_000001.10:g.161495338C>A	VUS	1 lab	bd2658f801
9:35808566 NPR2 C>T	9	35808566	35808566	C	T	NPR2	c.2773C>T	NM_003995.4	NP_003986.2:p.(Arg925Cys)	NC_000009.11:g.35808566C>T	VUS	1 lab	bd28a6b1aa
2:128459614 WDR33 T>C	2	128459614	128459614	T	C	WDR33	c.*4283A>G	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128459614T>C	(Likely) benign	1 lab	bd2997d495
2:179658146 TTN G>C	2	179658146	179658146	G	C	TTN	c.1521C>G	NM_001267550.1	NP_001254479.1:p.(His507Gln)	NC_000002.11:g.179658146G>C	VUS	1 lab	2bbe1c7c0b
6:36690027 RAB44 G>A	6	36690027	36690027	G	A	RAB44	c.2116G>A	NM_001257357.2	NP_001244286.1:p.(Ala706Thr)	NC_000006.11:g.36690027G>A	VUS	1 lab	bd2c0a8661
14:96794877 ATG2B T>TA	14	96794877	96794889	T	TA	ATG2B	c.1975-6dup	NM_018036.7	NP_060506.6:p.?	NC_000014.8:g.96794889dup	(Likely) benign	1 lab	bd2d160f14
9:135945865 CEL C>T	9	135945865	135945865	C	T	CEL	c.1304C>T	NM_001807.6	NP_001798.3:p.(Ala435Val)	NC_000009.11:g.135945865C>T	(Likely) benign	1 lab	bd2e07dbdc
17:18143975 LLGL1 G>T	17	18143975	18143975	G	T	LLGL1	c.2290G>T	NM_004140.4	NP_004131.4:p.(Val764Leu)	NC_000017.10:g.18143975G>T	(Likely) benign	1 lab	bd2e3189de
11:72084037 CLPB C>T	11	72084037	72084037	C	T	CLPB	c.646+7288G>A	NM_001258392.3	NP_001245321.1:p.?	NC_000011.9:g.72084037C>T	(Likely) benign	1 lab	bd2e42179e
8:92083470 OTUD6B CAT>C	8	92083470	92083473	CAT	C	OTUD6B	c.189_190del	NM_016023.5	NP_057107.4:p.(His63GlnfsTer12)	NC_000008.10:g.92083472_92083473del	(Likely) pathogenic	1 lab	bd33a2497c
7:2594008 BRAT1 T>A	7	2594008	2594008	T	A	BRAT1	c.58A>T	NM_152743.4	NP_689956.2:p.(Arg20Trp)	NC_000007.13:g.2594008T>A	VUS	1 lab	bd34abc500
X:153674786 FAM50A A>G	X	153674786	153674786	A	G	FAM50A	c.320A>G	NM_004699.4	NP_004690.1:p.(Lys107Arg)	NC_000023.10:g.153674786A>G	(Likely) benign	1 lab	bd353c0795
X:151935644 MAGEA6 A>C	X	151935644	151935644	A	C	MAGEA6	c.523=	NM_005363.5	NP_005354.1:p.(Val175=)	NC_000023.10:g.151935644A>C	(Likely) benign	1 lab	bd35648ee8
X:48419242 TBC1D25 G>A	X	48419242	48419242	G	A	TBC1D25	c.1946G>A	NM_002536.4	NP_002527.1:p.(Arg649His)	NC_000023.10:g.48419242G>A	VUS	1 lab	bd35980030
15:41191965 VPS18 G>C	15	41191965	41191965	G	C	VPS18	c.949G>C	NM_020857.3	NP_065908.1:p.(Gly317Arg)	NC_000015.9:g.41191965G>C	(Likely) benign	1 lab	bd369e3496
X:3242386 MXRA5 G>A	X	3242386	3242386	G	A	MXRA5	c.1340C>T	NM_015419.4	NP_056234.2:p.(Thr447Met)	NC_000023.10:g.3242386G>A	(Likely) benign	1 lab	bd378ce271
9:79917953 VPS13A T>C	9	79917953	79917953	T	C	VPS13A	c.3935T>C	NM_033305.3	NP_150648.2:p.(Val1312Ala)	NC_000009.11:g.79917953T>C	VUS	1 lab	bd39219acd
2:27802036 SPATA31H1 C>T	2	27802036	27802036	C	T	SPATA31H1	c.12809C>T	NM_032266.5	NP_115642.4:p.(Ser4270Phe)	NC_000002.11:g.27802036C>T	VUS	1 lab	bd392fa185
14:23852501 MYH6 C>T	14	23852501	23852501	C	T	MYH6	c.5594G>A	NM_002471.4	NP_002462.2:p.(Arg1865Gln)	NC_000014.8:g.23852501C>T	VUS	1 lab	bd3c2e0e94
19:55333018 KIR3DL1 A>T	19	55333018	55333018	A	T	KIR3DL1	c.656-2A>T	NM_013289.4	NP_037421.2:p.?	NC_000019.9:g.55333018A>T	VUS	1 lab	bd3c4e44c4
19:34954921 UBA2 C>T	19	34954921	34954921	C	T	UBA2	c.1499-10C>T	NM_005499.3	NP_005490.1:p.?	NC_000019.9:g.34954921C>T	(Likely) benign	1 lab	bd3c576a03
7:31014093 GHRHR C>T	7	31014093	31014093	C	T	GHRHR	c.801C>T	NM_000823.4	NP_000814.2:p.(Phe267=)	NC_000007.13:g.31014093C>T	(Likely) benign	1 lab	bd3db38041
X:2924677 ARSH C>G	X	2924677	2924677	C	G	ARSH	c.24C>G	NM_001011719.2	NP_001011719.1:p.(Asn8Lys)	NC_000023.10:g.2924677C>G	VUS	1 lab	bd3df09f3d
3:93755411 ARL13B A>G	3	93755411	93755411	A	G	ARL13B	c.502A>G	NM_001174150.2	NP_001167621.1:p.(Ile168Val)	NC_000003.11:g.93755411A>G	VUS	1 lab	bd3ea3b6fa
2:179440853 TTN C>T	2	179440853	179440853	C	T	TTN	c.70006G>A	NM_001267550.2	NP_001254479.2:p.(Val23336Ile)	NC_000002.11:g.179440853C>T	VUS	1 lab	bd3f26101b
11:3697438 NUP98 C>T	11	3697438	3697438	C	T	NUP98	c.5354G>A	NM_016320.5	NP_057404.2:p.(Arg1785His)	NC_000011.9:g.3697438C>T	(Likely) benign	1 lab	bd3f41e9d2
16:1278902 TPSB2 G>T	16	1278902	1278902	G	T	TPSB2	c.661C>A	NM_024164.6	NP_077078.5:p.(Gln221Lys)	NC_000016.9:g.1278902G>T	(Likely) benign	1 lab	bd41bba907
8:144992333 PLEC G>A	8	144992333	144992333	G	A	PLEC	c.11656C>T	NM_201384.3	NP_958786.1:p.(Arg3886Cys)	NC_000008.10:g.144992333G>A	VUS	1 lab	bd4315656f
6:102307183 GRIK2 A>C	6	102307183	102307183	A	C	GRIK2	c.1339A>C	NM_021956.5	NP_068775.1:p.(Lys447Gln)	NC_000006.11:g.102307183A>C	VUS	1 lab	bd43939418
1:197112738 ASPM T>G	1	197112738	197112738	T	G	ASPM	c.644A>C	NM_018136.5	NP_060606.3:p.(Glu215Ala)	NC_000001.10:g.197112738T>G	VUS	1 lab	bd43afaa22
5:56183331 MAP3K1 C>G	5	56183331	56183331	C	G	MAP3K1	c.4241C>G	NM_005921.2	NP_005912.1:p.(Ala1414Gly)	NC_000005.9:g.56183331C>G	VUS	1 lab	bd43d6d2b1
10:104142082 GBF1 G>A	10	104142082	104142082	G	A	GBF1	c.5572G>A	NM_001377137.1	NP_001364066.1:p.(Glu1858Lys)	NC_000010.10:g.104142082G>A	VUS	1 lab	bd446d74cf
15:66779598 MAP2K1 A>G	15	66779598	66779598	A	G	MAP2K1	c.928A>G	NM_002755.4	NP_002746.1:p.(Ile310Val)	NC_000015.9:g.66779598A>G	VUS	1 lab	bd48ca71da
11:1250498 MUC5B T>G	11	1250498	1250498	T	G	MUC5B	c.1075T>G	NM_002458.3	NP_002449.2:p.(Cys359Gly)	NC_000011.9:g.1250498T>G	VUS	1 lab	bda4c749af
5:112176673 APC C>T	5	112176673	112176673	C	T	APC	c.5382C>T	NM_000038.6	NP_000029.2:p.(Asp1794=)	NC_000005.9:g.112176673C>T	(Likely) benign	1 lab	bd497739fb
6:130467191 SAMD3 T>C	6	130467191	130467191	T	C	SAMD3	c.1159A>G	NM_001017373.4	NP_001017373.2:p.(Lys387Glu)	NC_000006.11:g.130467191T>C	VUS	1 lab	bd49804ae9
19:15280967 NOTCH3 C>T	19	15280967	15280967	C	T	NOTCH3	c.5129G>A	NM_000435.3	NP_000426.2:p.(Gly1710Asp)	NC_000019.9:g.15280967C>T	(Likely) benign	1 lab	bd4ab4a881
15:40488980 BUB1B G>A	15	40488980	40488980	G	A	BUB1B	c.1288+5G>A	NM_001211.6	NP_001202.5:p.?	NC_000015.9:g.40488980G>A	VUS	1 lab	bd4c1aef6c
2:15448404 NBAS T>C	2	15448404	15448404	T	C	NBAS	c.4733A>G	NM_015909.4	NP_056993.2:p.(Tyr1578Cys)	NC_000002.11:g.15448404T>C	VUS	1 lab	bd4c88cfe8
8:65528844 CYP7B1 A>G	8	65528844	65528844	A	G	CYP7B1	c.260-6T>C	NM_004820.5	NP_004811.1:p.?	NC_000008.10:g.65528844A>G	(Likely) benign	1 lab	2bbf61cca8
14:23894612 MYH7 C>T	14	23894612	23894612	C	T	MYH7	c.2302G>A	NM_000257.4	NP_000248.2:p.(Gly768Arg)	NC_000014.8:g.23894612C>T	(Likely) pathogenic	1 lab	29dcc7b9b5
15:65369494 KBTBD13 C>T	15	65369494	65369494	C	T	KBTBD13	c.341C>T	NM_001101362.3	NP_001094832.1:p.(Ala114Val)	NC_000015.9:g.65369494C>T	VUS	1 lab	bd4f43a8e1
2:206588570 NRP2 G>A	2	206588570	206588570	G	A	NRP2	c.726G>A	NM_003872.3	NP_003863.2:p.(Thr242=)	NC_000002.11:g.206588570G>A	(Likely) benign	1 lab	bd50033f67
12:48386707 COL2A1 C>T	12	48386707	48386707	C	T	COL2A1	c.977G>A	NM_001844.5	NP_001835.3:p.(Arg326His)	NC_000012.11:g.48386707C>T	VUS	1 lab	bd50565278
18:10693354 PIEZO2 T>TTG	18	10693354	10693386	T	TTG	PIEZO2	c.7191-1975_7191-1974dup	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10693385_10693386dup	(Likely) benign	1 lab	bd5118c67f
1:235647632 B3GALNT2 G>A	1	235647632	235647632	G	A	B3GALNT2	c.555+6C>T	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235647632G>A	VUS	1 lab	bd511d69b7
3:128810106 RAB43 C>T	3	128810106	128810106	C	T	RAB43	c.472G>A	NM_198490.3	NP_940892.1:p.(Ala158Thr)	NC_000003.11:g.128810106C>T	VUS	1 lab	bd51bff679
15:65208045 ANKDD1A C>G	15	65208045	65208045	C	G	ANKDD1A	c.84C>G	NM_182703.6	NP_874362.3:p.(Val28=)	NC_000015.9:g.65208045C>G	(Likely) benign	1 lab	bd52d89dc7
X:123468082 TEX13D A>G	X	123468082	123468082	A	G	TEX13D	c.1315A>G	NM_001355534.2	NP_001342463.1:p.(Lys439Glu)	NC_000023.10:g.123468082A>G	VUS	1 lab	bd53399b95
15:63978702 HERC1 A>T	15	63978702	63978702	A	T	HERC1	c.6081T>A	NM_003922.4	NP_003913.3:p.(Asn2027Lys)	NC_000015.9:g.63978702A>T	(Likely) benign	1 lab	bd549bb591
16:30102481 TBX6 C>G	16	30102481	30102481	C	G	TBX6	c.34G>C	NM_004608.4	NP_004599.2:p.(Gly12Arg)	NC_000016.9:g.30102481C>G	VUS	1 lab	bd54eab61a
11:61551359 MYRF T>G	11	61551359	61551359	T	G	MYRF	c.3156T>G	NM_001127392.3	NP_001120864.1:p.(Ser1052Arg)	NC_000011.9:g.61551359T>G	VUS	1 lab	bd559136d1
14:20871968 TEP1 C>A	14	20871968	20871968	C	A	TEP1	c.1108G>T	NM_007110.5	NP_009041.2:p.(Ala370Ser)	NC_000014.8:g.20871968C>A	(Likely) benign	1 lab	bd5623cdd3
2:46583272 EPAS1 AC>A	2	46583272	46583282	AC	A	EPAS1	c.218-8del	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583282del	(Likely) benign	1 lab	bd5798c7bc
6:31864040 EHMT2 C>G	6	31864040	31864040	C	G	EHMT2	c.582G>C	NM_006709.5	NP_006700.3:p.(Gln194His)	NC_000006.11:g.31864040C>G	(Likely) benign	1 lab	bd58a6043a
X:76855069 ATRX C>A	X	76855069	76855069	C	A	ATRX	c.5787-20G>T	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76855069C>A	(Likely) benign	1 lab	2bbf6a72f7
17:38249592 NR1D1 C>T	17	38249592	38249592	C	T	NR1D1	c.1646-57G>A	NM_021724.5	NP_068370.1:p.?	NC_000017.10:g.38249592C>T	(Likely) benign	1 lab	bd596f2d0a
5:137354665 FAM13B C>T	5	137354665	137354665	C	T	FAM13B	c.136G>A	NM_001385994.1	NP_001372923.1:p.(Val46Met)	NC_000005.9:g.137354665C>T	VUS	1 lab	bd5c00ce1b
16:30102211 TBX6 C>T	16	30102211	30102211	C	T	TBX6	c.221G>A	NM_004608.4	NP_004599.2:p.(Gly74Asp)	NC_000016.9:g.30102211C>T	VUS	1 lab	bd5c0e643c
X:66766603 AR C>T	X	66766603	66766603	C	T	AR	c.1615C>T	NM_000044.6	NP_000035.2:p.(Arg539Cys)	NC_000023.10:g.66766603C>T	VUS	1 lab	bd5d78f8b2
18:19752072 GATA6 TACCACCACC>T	18	19752072	19752103	TACCACCACC	T	GATA6	c.990_998del	NM_005257.6	NP_005248.2:p.(His331_His333del)	NC_000018.9:g.19752095_19752103del	(Likely) benign	1 lab	bd5e69ee8d
19:41355876 CYP2A6 G>A	19	41355876	41355876	G	A	CYP2A6	c.190C>T	NM_000762.6	NP_000753.3:p.(Arg64Cys)	NC_000019.9:g.41355876G>A	(Likely) benign	1 lab	bd5ed665a8
16:81957205 PLCG2 G>A	16	81957205	81957205	G	A	PLCG2	c.2417+6G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81957205G>A	(Likely) benign	1 lab	2bc1a56497
13:33684007 STARD13 C>T	13	33684007	33684007	C	T	STARD13	c.3047+3G>A	NM_178006.4	NP_821074.1:p.?	NC_000013.10:g.33684007C>T	(Likely) benign	1 lab	bd5f5ff603
4:126412895 FAT4 A>C	4	126412895	126412895	A	C	FAT4	c.14924A>C	NM_001291303.3	NP_001278232.1:p.(Lys4975Thr)	NC_000004.11:g.126412895A>C	VUS	1 lab	bd6014422d
16:81956953 PLCG2 C>A	16	81956953	81956953	C	A	PLCG2	c.2308-137C>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81956953C>A	(Likely) benign	1 lab	2bc8602f64
16:2158625 PKD1 G>GT	16	2158625	2158626	G	GT	PKD1	c.6542dup	NM_001009944.3	NP_001009944.3:p.(Tyr2181Ter)	NC_000016.9:g.2158626dup	(Likely) pathogenic	1 lab	bd61eb2a32
7:151860601 KMT2C G>A	7	151860601	151860601	G	A	KMT2C	c.10061C>T	NM_170606.3	NP_733751.2:p.(Pro3354Leu)	NC_000007.13:g.151860601G>A	VUS	1 lab	bd6206d8ad
2:197729785 PGAP1 C>A	2	197729785	197729785	C	A	PGAP1	c.1787G>T	NM_024989.4	NP_079265.2:p.(Gly596Val)	NC_000002.11:g.197729785C>A	(Likely) benign	1 lab	bd63600b39
X:153593022 FLNA C>T	X	153593022	153593022	C	T	FLNA	c.1894G>A	NM_001110556.2	NP_001104026.1:p.(Asp632Asn)	NC_000023.10:g.153593022C>T	VUS	1 lab	bd638cba77
4:41747862 PHOX2B C>T	4	41747862	41747862	C	T	PHOX2B	c.907G>A	NM_003924.4	NP_003915.2:p.(Gly303Ser)	NC_000004.11:g.41747862C>T	VUS	1 lab	bd643fffbc
X:100748910 ARMCX4 G>A	X	100748910	100748910	G	A	ARMCX4	c.5334G>A	NM_001256155.3	NP_001243084.2:p.(Met1778Ile)	NC_000023.10:g.100748910G>A	(Likely) benign	1 lab	bd64d72f2c
3:126748292 PLXNA1 G>A	3	126748292	126748292	G	A	PLXNA1	c.4783G>A	NM_032242.4	NP_115618.3:p.(Gly1595Arg)	NC_000003.11:g.126748292G>A	VUS	1 lab	bd662276ba
5:176721993 NSD1 C>T	5	176721993	176721993	C	T	NSD1	c.7624C>T	NM_022455.5	NP_071900.2:p.(Pro2542Ser)	NC_000005.9:g.176721993C>T	VUS	1 lab	bd6661a8cd
1:208206678 PLXNA2 GC>G	1	208206678	208206680	GC	G	PLXNA2	c.5040del	NM_025179.4	NP_079455.3:p.(Leu1681TyrfsTer40)	NC_000001.10:g.208206680del	VUS	1 lab	bd66bcd113
8:61749494 CHD7 GGTT>G	8	61749494	61749497	GGTT	G	CHD7	c.4109_4111del	NM_017780.4	NP_060250.2:p.(Gly1370_Leu1371delinsVal)	NC_000008.10:g.61749495_61749497del	VUS	1 lab	29e06d31b4
4:103644180 MANBA C>T	4	103644180	103644180	C	T	MANBA	c.397G>A	NM_005908.4	NP_005899.3:p.(Val133Met)	NC_000004.11:g.103644180C>T	(Likely) benign	1 lab	bd6818e9f7
12:112600313 HECTD4 G>A	12	112600313	112600313	G	A	HECTD4	c.13135C>T	NM_001388303.1	NP_001375232.1:p.(Arg4379Cys)	NC_000012.11:g.112600313G>A	VUS	1 lab	bd6acfc4dc
14:91744372 CCDC88C G>C	14	91744372	91744372	G	C	CCDC88C	c.4952C>G	NM_001080414.4	NP_001073883.2:p.(Thr1651Arg)	NC_000014.8:g.91744372G>C	(Likely) benign	1 lab	bd6b3a72b3
17:42940153 EFTUD2 T>C	17	42940153	42940153	T	C	EFTUD2	c.1535A>G	NM_004247.4	NP_004238.3:p.(Glu512Gly)	NC_000017.10:g.42940153T>C	(Likely) benign	1 lab	bd6b431ed9
9:139902950 ABCA2 G>A	9	139902950	139902950	G	A	ABCA2	c.7193C>T	NM_001606.5	NP_001597.2:p.(Thr2398Met)	NC_000009.11:g.139902950G>A	VUS	1 lab	bd6cb424ab
X:19037713 ADGRG2 A>G	X	19037713	19037713	A	G	ADGRG2	c.710+4T>C	NM_001079858.3	NP_001073327.1:p.?	NC_000023.10:g.19037713A>G	(Likely) benign	1 lab	bd6d7bb4e4
4:6303902 WFS1 G>A	4	6303902	6303902	G	A	WFS1	c.2380G>A	NM_006005.3	NP_005996.2:p.(Glu794Lys)	NC_000004.11:g.6303902G>A	(Likely) pathogenic	1 lab	bd6dfc8c07
15:93496728 CHD2 G>A	15	93496728	93496728	G	A	CHD2	c.1644G>A	NM_001271.4	NP_001262.3:p.(Trp548Ter)	NC_000015.9:g.93496728G>A	(Likely) pathogenic	1 lab	bd6eab9cea
15:99500473 IGF1R C>T	15	99500473	99500473	C	T	IGF1R	c.3906C>T	NM_000875.5	NP_000866.1:p.(Ser1302=)	NC_000015.9:g.99500473C>T	(Likely) benign	1 lab	bd6fbcf4c5
12:79702185 SYT1 T>G	12	79702185	79702185	T	G	SYT1	c.810+8854T>G	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79702185T>G	(Likely) benign	1 lab	bd707e676b
2:73677858 ALMS1 A>G	2	73677858	73677858	A	G	ALMS1	c.4204A>G	NM_001378454.1	NP_001365383.1:p.(Thr1402Ala)	NC_000002.11:g.73677858A>G	(Likely) benign	1 lab	bd72620223
9:139748276 MAMDC4 ACCCTGTGGCAGAGCACAGGG>A	9	139748276	139748301	ACCCTGTGGCAGAGCACAGGG	A	MAMDC4	c.508_527del	NM_206920.3	NP_996803.2:p.(Trp170GlyfsTer17)	NC_000009.11:g.139748282_139748301del	VUS	1 lab	bd7279a01c
9:116931145 COL27A1 C>T	9	116931145	116931145	C	T	COL27A1	c.1310C>T	NM_032888.4	NP_116277.2:p.(Pro437Leu)	NC_000009.11:g.116931145C>T	(Likely) benign	1 lab	bd728eef41
3:178948050 PIK3CA A>G	3	178948050	178948050	A	G	PIK3CA	c.2822A>G	NM_006218.4	NP_006209.2:p.(Lys941Arg)	NC_000003.11:g.178948050A>G	(Likely) benign	1 lab	bd746f89fc
6:70980028 COL9A1 G>T	6	70980028	70980028	G	T	COL9A1	c.1186C>A	NM_001851.6	NP_001842.3:p.(Pro396Thr)	NC_000006.11:g.70980028G>T	VUS	1 lab	bd74a390b5
12:14822719 GUCY2C C>T	12	14822719	14822719	C	T	GUCY2C	c.1219G>A	NM_004963.4	NP_004954.2:p.(Val407Met)	NC_000012.11:g.14822719C>T	VUS	1 lab	bd75fee889
9:140611192 EHMT1 C>G	9	140611192	140611192	C	G	EHMT1	c.200C>G	NM_024757.5	NP_079033.4:p.(Ala67Gly)	NC_000009.11:g.140611192C>G	(Likely) benign	1 lab	bd76435bd7
8:77618437 ZFHX4 A>G	8	77618437	77618437	A	G	ZFHX4	c.2114A>G	NM_024721.5	NP_078997.4:p.(Asn705Ser)	NC_000008.10:g.77618437A>G	VUS	1 lab	bd7760f033
20:62537791 DNAJC5 C>T	20	62537791	62537791	C	T	DNAJC5	c.-12+11115C>T	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62537791C>T	(Likely) benign	1 lab	bd78527bf1
X:21645616 CNKSR2 C>CA	X	21645616	21645625	C	CA	CNKSR2	c.2692+17890dup	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21645625dup	(Likely) benign	1 lab	bd78a283b8
8:2005473 MYOM2 T>A	8	2005473	2005473	T	A	MYOM2	c.271T>A	NM_003970.4	NP_003961.3:p.(Ser91Thr)	NC_000008.10:g.2005473T>A	VUS	1 lab	29e06de073
22:50986742 KLHDC7B A>G	22	50986742	50986742	A	G	KLHDC7B	c.2070A>G	NM_138433.5	NP_612442.3:p.(Ile690Met)	NC_000022.10:g.50986742A>G	(Likely) benign	1 lab	bd79852b72
2:73675832 ALMS1 CCAA>C	2	73675832	73675838	CCAA	C	ALMS1	c.2182_2184del	NM_001378454.1	NP_001365383.1:p.(Gln728del)	NC_000002.11:g.73675836_73675838del	VUS	1 lab	bd79ddb46e
16:2161157 PKD1 CGT>C	16	2161157	2161161	CGT	C	PKD1	c.4009_4010del	NM_001009944.3	NP_001009944.3:p.(Thr1337AspfsTer93)	NC_000016.9:g.2161160_2161161del	(Likely) pathogenic	1 lab	bd7a17eab8
2:143743591 KYNU G>A	2	143743591	143743591	G	A	KYNU	c.902+1G>A	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143743591G>A	(Likely) pathogenic	1 lab	bd7c8e42ff
14:64518391 SYNE2 A>G	14	64518391	64518391	A	G	SYNE2	c.7760A>G	NM_182914.3	NP_878918.2:p.(His2587Arg)	NC_000014.8:g.64518391A>G	(Likely) benign	1 lab	bd7cf01bd3
17:40376852 STAT5B C>T	17	40376852	40376852	C	T	STAT5B	c.320G>A	NM_012448.4	NP_036580.2:p.(Arg107His)	NC_000017.10:g.40376852C>T	VUS	1 lab	bd7d52779a
9:94487193 ROR2 C>T	9	94487193	94487193	C	T	ROR2	c.1583G>A	NM_004560.4	NP_004551.2:p.(Arg528Gln)	NC_000009.11:g.94487193C>T	VUS	1 lab	bdc939e3e7
15:66996101 SMAD6 G>C	15	66996101	66996101	G	C	SMAD6	c.505G>C	NM_005585.5	NP_005576.3:p.(Glu169Gln)	NC_000015.9:g.66996101G>C	(Likely) benign	1 lab	bd7de31f77
17:10590100 SCO1 T>C	17	10590100	10590100	T	C	SCO1	c.715A>G	NM_004589.4	NP_004580.1:p.(Arg239Gly)	NC_000017.10:g.10590100T>C	VUS	1 lab	bd7e988c2d
2:220083121 ABCB6 G>A	2	220083121	220083121	G	A	ABCB6	c.275C>T	NM_005689.4	NP_005680.1:p.(Ala92Val)	NC_000002.11:g.220083121G>A	(Likely) benign	1 lab	bd7ef4097c
1:43205596 CLDN19 A>G	1	43205596	43205596	A	G	CLDN19	c.139T>C	NM_148960.3	NP_683763.2:p.(Tyr47His)	NC_000001.10:g.43205596A>G	VUS	1 lab	bd80b2a50b
22:40661196 TNRC6B G>A	22	40661196	40661196	G	A	TNRC6B	c.962G>A	NM_001162501.2	NP_001155973.1:p.(Arg321Lys)	NC_000022.10:g.40661196G>A	VUS	1 lab	bd82e5a567
5:176562195 NSD1 C>G	5	176562195	176562195	C	G	NSD1	c.91C>G	NM_022455.5	NP_071900.2:p.(Pro31Ala)	NC_000005.9:g.176562195C>G	VUS	1 lab	bd83de6388
19:14561199 PKN1 C>T	19	14561199	14561199	C	T	PKN1	c.680C>T	NM_002741.5	NP_002732.3:p.(Ala227Val)	NC_000019.9:g.14561199C>T	VUS	1 lab	bd84e144f3
17:78272230 RNF213 C>G	17	78272230	78272230	C	G	RNF213	c.2122C>G	NM_001256071.3	NP_001243000.2:p.(His708Asp)	NC_000017.10:g.78272230C>G	(Likely) benign	1 lab	bd851da563
16:68725769 CDH3 C>T	16	68725769	68725769	C	T	CDH3	c.1942C>T	NM_001793.6	NP_001784.2:p.(Pro648Ser)	NC_000016.9:g.68725769C>T	(Likely) benign	1 lab	bd8584505c
16:3647691 SLX4 T>C	16	3647691	3647691	T	C	SLX4	c.1372A>G	NM_032444.4	NP_115820.2:p.(Lys458Glu)	NC_000016.9:g.3647691T>C	VUS	1 lab	bd93ed76c7
8:145741187 RECQL4 C>T	8	145741187	145741187	C	T	RECQL4	c.1219G>A	NM_004260.4	NP_004251.4:p.(Glu407Lys)	NC_000008.10:g.145741187C>T	(Likely) benign	1 lab	bd858c7d5e
7:100855577 PLOD3 GCCCCACGAGCTTCA>G	7	100855577	100855592	GCCCCACGAGCTTCA	G	PLOD3	c.1070_1083del	NM_001084.5	NP_001075.1:p.(Val357AlafsTer25)	NC_000007.13:g.100855579_100855592del	VUS	1 lab	bd85dd8cdb
1:11293464 MTOR T>C	1	11293464	11293464	T	C	MTOR	c.2412A>G	NM_004958.4	NP_004949.1:p.(Glu804=)	NC_000001.10:g.11293464T>C	(Likely) benign	1 lab	bd86776077
15:25963551 ATP10A G>C	15	25963551	25963551	G	C	ATP10A	c.1364-5C>G	NM_024490.4	NP_077816.1:p.?	NC_000015.9:g.25963551G>C	VUS	1 lab	bd87be3b6a
1:237774112 RYR2 C>A	1	237774112	237774112	C	A	RYR2	c.4734C>A	NM_001035.3	NP_001026.2:p.(Pro1578=)	NC_000001.10:g.237774112C>A	(Likely) benign	1 lab	29e5ca0f39
6:29572279 GABBR1 T>C	6	29572279	29572279	T	C	GABBR1	c.2704A>G	NM_001470.4	NP_001461.1:p.(Ile902Val)	NC_000006.11:g.29572279T>C	(Likely) benign	1 lab	bd8925033c
4:6303378 WFS1 C>T	4	6303378	6303378	C	T	WFS1	c.1856C>T	NM_006005.3	NP_005996.2:p.(Ser619Phe)	NC_000004.11:g.6303378C>T	VUS	1 lab	bd8a3b0fa7
4:1905984 NSD2 C>CA	4	1905984	1905987	C	CA	NSD2	c.642dup	NM_001042424.3	NP_001035889.1:p.(Asp215ArgfsTer10)	NC_000004.11:g.1905987dup	(Likely) pathogenic	1 lab	bd8b24157b
10:50667280 ERCC6 C>A	10	50667280	50667280	C	A	ERCC6	c.4063G>T	NM_000124.4	NP_000115.1:p.(Asp1355Tyr)	NC_000010.10:g.50667280C>A	VUS	1 lab	bd8b6ec01e
9:37745439 FRMPD1 C>T	9	37745439	37745439	C	T	FRMPD1	c.3410C>T	NM_014907.3	NP_055722.2:p.(Pro1137Leu)	NC_000009.11:g.37745439C>T	(Likely) benign	1 lab	bd902e6ba0
9:73167803 TRPM3 C>T	9	73167803	73167803	C	T	TRPM3	c.3531G>A	NM_001366145.2	NP_001353074.1:p.(Trp1177Ter)	NC_000009.11:g.73167803C>T	VUS	1 lab	bd9173757c
12:49426261 KMT2D AGGAGTTGTGAGTC>CTTGTCCAACCCCAGCCCCA	12	49426261	49426274	AGGAGTTGTGAGTC	CTTGTCCAACCCCAGCCCCA	KMT2D	c.12214_12227delinsTGGGGCTGGGGTTGGACAAG	NM_003482.4	NP_003473.3:p.(Asp4072_Leu4076delinsTrpGlyTrpGlyTrpThrArg)	NC_000012.11:g.49426261_49426274delinsCTTGTCCAACCCCAGCCCCA	VUS	1 lab	bd926d92d6
4:1803144 FGFR3 G>A	4	1803144	1803144	G	A	FGFR3	c.496G>A	NM_000142.5	NP_000133.1:p.(Val166Met)	NC_000004.11:g.1803144G>A	VUS	1 lab	29e740102c
2:149247273 MBD5 G>A	2	149247273	149247273	G	A	MBD5	c.4072G>A	NM_001378120.1	NP_001365049.1:p.(Ala1358Thr)	NC_000002.11:g.149247273G>A	VUS	1 lab	bd93417a8f
8:41790761 KAT6A TGGCTGCTGTGGAGGCGGTGGTGGC>T	8	41790761	41790793	TGGCTGCTGTGGAGGCGGTGGTGGC	T	KAT6A	c.4953_4976del	NM_006766.5	NP_006757.2:p.(Pro1652_Pro1659del)	NC_000008.10:g.41790770_41790793del	(Likely) benign	1 lab	29e9912885
18:3450310 TGIF1 T>C	18	3450310	3450310	T	C	TGIF1	c.-178T>C	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3450310T>C	(Likely) benign	1 lab	bd96759196
X:110654133 DCX T>G	X	110654133	110654133	T	G	DCX	c.-22-485A>C	NM_001195553.2	NP_001182482.1:p.?	NC_000023.10:g.110654133T>G	VUS	1 lab	bd96e31aeb
12:88898987 KITLG A>G	12	88898987	88898987	A	G	KITLG	c.808T>C	NM_000899.5	NP_000890.1:p.(Phe270Leu)	NC_000012.11:g.88898987A>G	(Likely) benign	1 lab	bd979720da
9:139418189 NOTCH1 C>T	9	139418189	139418189	C	T	NOTCH1	c.383G>A	NM_017617.5	NP_060087.3:p.(Arg128His)	NC_000009.11:g.139418189C>T	(Likely) benign	1 lab	bd99b8238c
16:5129080 ALG1 C>G	16	5129080	5129080	C	G	ALG1	c.878C>G	NM_019109.5	NP_061982.3:p.(Ser293Cys)	NC_000016.9:g.5129080C>G	(Likely) benign	1 lab	bd9aabec82
1:144931507 PDE4DIP T>C	1	144931507	144931507	T	C	PDE4DIP	c.835-7686A>G	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144931507T>C	VUS	1 lab	bd9c91bd4b
1:38289489 MTF1 T>C	1	38289489	38289489	T	C	MTF1	c.1069-5A>G	NM_005955.3	NP_005946.2:p.?	NC_000001.10:g.38289489T>C	(Likely) benign	1 lab	bd9f79d919
7:148504767 EZH2 C>T	7	148504767	148504767	C	T	EZH2	c.2227G>A	NM_004456.5	NP_004447.2:p.(Gly743Ser)	NC_000007.13:g.148504767C>T	(Likely) pathogenic	1 lab	bd9fddc318
3:33038721 GLB1 G>C	3	33038721	33038721	G	C	GLB1	c.1850C>G	NM_000404.4	NP_000395.3:p.(Thr617Ser)	NC_000003.11:g.33038721G>C	VUS	1 lab	bda088ae17
17:1371150 MYO1C G>A	17	1371150	1371150	G	A	MYO1C	c.2951C>T	NM_001080779.2	NP_001074248.1:p.(Ala984Val)	NC_000017.10:g.1371150G>A	(Likely) benign	1 lab	bda0f940f5
14:105420223 AHNAK2 T>C	14	105420223	105420223	T	C	AHNAK2	c.1565A>G	NM_138420.4	NP_612429.2:p.(Lys522Arg)	NC_000014.8:g.105420223T>C	VUS	1 lab	bda1618d10
15:42059153 MGA C>G	15	42059153	42059153	C	G	MGA	c.9020C>G	NM_001400225.1	NP_001387154.1:p.(Pro3007Arg)	NC_000015.9:g.42059153C>G	(Likely) benign	1 lab	bda1d769e4
8:145740421 RECQL4 C>T	8	145740421	145740421	C	T	RECQL4	c.1519G>A	NM_004260.4	NP_004251.4:p.(Gly507Ser)	NC_000008.10:g.145740421C>T	VUS	1 lab	bda3a5ca70
X:69262953 AWAT2 G>A	X	69262953	69262953	G	A	AWAT2	c.613C>T	NM_001002254.1	NP_001002254.1:p.(Arg205Trp)	NC_000023.10:g.69262953G>A	VUS	1 lab	bda553db63
20:13773889 NDUFAF5 A>G	20	13773889	13773889	A	G	NDUFAF5	c.375+16A>G	NM_024120.5	NP_077025.2:p.?	NC_000020.10:g.13773889A>G	(Likely) benign	1 lab	29f49bb600
9:135942606 CEL C>T	9	135942606	135942606	C	T	CEL	c.895+14C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942606C>T	(Likely) benign	1 lab	bda67b7c95
12:124242471 ATP6V0A2 TAGGG>T	12	124242471	124242475	TAGGG	T	ATP6V0A2	c.2466-2_2467del	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124242472_124242475del	(Likely) benign	1 lab	bda6994c87
1:183101593 LAMC1 A>G	1	183101593	183101593	A	G	LAMC1	c.3625A>G	NM_002293.4	NP_002284.3:p.(Thr1209Ala)	NC_000001.10:g.183101593A>G	(Likely) benign	1 lab	bdacf44cd7
7:27224324 HOXA11 G>A	7	27224324	27224324	G	A	HOXA11	c.440C>T	NM_005523.6	NP_005514.1:p.(Ala147Val)	NC_000007.13:g.27224324G>A	VUS	1 lab	bdad7c4f8a
22:20796597 KLHL22 G>A	22	20796597	20796597	G	A	KLHL22	c.1668C>T	NM_032775.4	NP_116164.2:p.(Arg556=)	NC_000022.10:g.20796597G>A	(Likely) benign	1 lab	bdae514b5a
14:23889187 MYH7 T>C	14	23889187	23889187	T	C	MYH7	c.3593A>G	NM_000257.2	NP_000248.2:p.(Asp1198Gly)	NC_000014.8:g.23889187T>C	(Likely) pathogenic	1 lab	2bcdd0a1d7
8:41832342 KAT6A T>A	8	41832342	41832342	T	A	KAT6A	c.1364-2A>T	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41832342T>A	(Likely) pathogenic	1 lab	bdaf987e39
1:224621769 WDR26 GCCA>G	1	224621769	224621774	GCCA	G	WDR26	c.336_338del	NM_001379403.1	NP_001366332.1:p.(Gly125del)	NC_000001.10:g.224621772_224621774del	(Likely) benign	1 lab	bdb003d8a1
15:99472883 IGF1R G>GA	15	99472883	99472886	G	GA	IGF1R	c.2882dup	NM_000875.5	NP_000866.1:p.(Arg962GlufsTer3)	NC_000015.9:g.99472886dup	(Likely) pathogenic	1 lab	bdb06a0b14
14:50626377 SOS2 G>C	14	50626377	50626377	G	C	SOS2	c.1624C>G	NM_006939.4	NP_008870.2:p.(Leu542Val)	NC_000014.8:g.50626377G>C	VUS	1 lab	bdb0e17e23
4:79458112 FRAS1 A>G	4	79458112	79458112	A	G	FRAS1	c.11093-37A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79458112A>G	(Likely) benign	1 lab	2bcea7eb32
1:152187404 HRNR G>C	1	152187404	152187404	G	C	HRNR	c.6701C>G	NM_001009931.3	NP_001009931.1:p.(Ser2234Cys)	NC_000001.10:g.152187404G>C	VUS	1 lab	bdb1dda36b
7:150749682 ASIC3 C>T	7	150749682	150749682	C	T	ASIC3	c.1539C>T	NM_004769.4	NP_004760.1:p.(Ala513=)	NC_000007.13:g.150749682C>T	(Likely) benign	1 lab	bdb285579c
9:5769034 RIC1 C>T	9	5769034	5769034	C	T	RIC1	c.3202C>T	NM_020829.4	NP_065880.2:p.(Arg1068Trp)	NC_000009.11:g.5769034C>T	VUS	1 lab	bdb447b5db
8:41550261 ANK1 G>A	8	41550261	41550261	G	A	ANK1	c.3763C>T	NM_000037.4	NP_000028.3:p.(Arg1255Cys)	NC_000008.10:g.41550261G>A	VUS	1 lab	bdb499b89e
17:60679535 TLK2 C>T	17	60679535	60679535	C	T	TLK2	c.1853C>T	NM_006852.6	NP_006843.2:p.(Thr618Ile)	NC_000017.10:g.60679535C>T	(Likely) pathogenic	1 lab	bdb570a573
7:42004566 GLI3 C>T	7	42004566	42004566	C	T	GLI3	c.4105G>A	NM_000168.6	NP_000159.3:p.(Gly1369Ser)	NC_000007.13:g.42004566C>T	(Likely) benign	1 lab	bdb5802bdd
12:79842893 SYT1 G>A	12	79842893	79842893	G	A	SYT1	c.1258G>A	NM_005639.3	NP_005630.1:p.(Val420Ile)	NC_000012.11:g.79842893G>A	(Likely) benign	1 lab	bdb63b5030
4:106158216 TET2 G>A	4	106158216	106158216	G	A	TET2	c.3117G>A	NM_001127208.3	NP_001120680.1:p.(Ser1039=)	NC_000004.11:g.106158216G>A	(Likely) benign	1 lab	bdb6ab2f8c
13:23904781 SACS T>C	13	23904781	23904781	T	C	SACS	c.13234A>G	NM_014363.6	NP_055178.3:p.(Arg4412Gly)	NC_000013.10:g.23904781T>C	VUS	1 lab	bdb78f256a
17:42329004 SLC4A1 A>C	17	42329004	42329004	A	C	SLC4A1	c.2312-48T>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42329004A>C	(Likely) benign	1 lab	2bd18a7478
7:74217761 GTF2IRD2 AG>A	7	74217761	74217764	AG	A	GTF2IRD2	c.1094del	NM_173537.5	NP_775808.4:p.(Pro365LeufsTer5)	NC_000007.13:g.74217764del	VUS	1 lab	bdbad06bcb
16:30663283 PRR14 A>G	16	30663283	30663283	A	G	PRR14	c.190A>G	NM_024031.5	NP_076936.1:p.(Met64Val)	NC_000016.9:g.30663283A>G	(Likely) benign	1 lab	bdbc198a10
18:55833029 NEDD4L C>T	18	55833029	55833029	C	T	NEDD4L	c.58C>T	NM_001144967.3	NP_001138439.1:p.(Arg20Cys)	NC_000018.9:g.55833029C>T	(Likely) benign	1 lab	bdbe09af8c
12:46322436 SCAF11 C>T	12	46322436	46322436	C	T	SCAF11	c.1048G>A	NM_004719.3	NP_004710.2:p.(Gly350Ser)	NC_000012.11:g.46322436C>T	(Likely) benign	1 lab	bdbfd50e84
8:2054331 MYOM2 C>A	8	2054331	2054331	C	A	MYOM2	c.2942C>A	NM_003970.4	NP_003961.3:p.(Ser981Tyr)	NC_000008.10:g.2054331C>A	VUS	1 lab	bdbfe2c66c
22:51113521 SHANK3 C>A	22	51113521	51113521	C	A	SHANK3	c.334C>A	NM_001372044.2	NP_001358973.1:p.(Gln112Lys)	NC_000022.10:g.51113521C>A	(Likely) benign	1 lab	bdc0fb81bd
2:152520058 NEB G>A	2	152520058	152520058	G	A	NEB	c.5763+4C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152520058G>A	(Likely) benign	1 lab	bdc124f310
3:193355853 OPA1 A>G	3	193355853	193355853	A	G	OPA1	c.1148A>G	NM_130837.3	NP_570850.2:p.(Lys383Arg)	NC_000003.11:g.193355853A>G	(Likely) pathogenic	1 lab	bdc13bb700
22:42456918 NAGA G>A	22	42456918	42456918	G	A	NAGA	c.1101+10C>T	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42456918G>A	(Likely) benign	1 lab	bdc187c7f3
10:135106153 TUBGCP2 G>A	10	135106153	135106153	G	A	TUBGCP2	c.1064C>T	NM_006659.4	NP_006650.1:p.(Thr355Met)	NC_000010.10:g.135106153G>A	VUS	1 lab	bdc31810f7
12:6090947 VWF C>T	12	6090947	6090947	C	T	VWF	c.7287+5G>A	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6090947C>T	VUS	1 lab	bdc39dec37
1:119427460 TBX15 C>T	1	119427460	119427460	C	T	TBX15	c.1704G>A	NM_001330677.2	NP_001317606.1:p.(Met568Ile)	NC_000001.10:g.119427460C>T	VUS	1 lab	bdc4dd1fca
2:47643469 MSH2 TG>T	2	47643469	47643471	TG	T	MSH2	c.979del	NM_000251.3	NP_000242.1:p.(Ala327LeufsTer4)	NC_000002.11:g.47643471del	(Likely) pathogenic	1 lab	bdc58cc8d4
2:129025848 HS6ST1 C>T	2	129025848	129025848	C	T	HS6ST1	c.1124G>A	NM_004807.3	NP_004798.3:p.(Arg375His)	NC_000002.11:g.129025848C>T	(Likely) benign	1 lab	bdc7715390
1:207075354 IL24 G>A	1	207075354	207075354	G	A	IL24	c.474G>A	NM_006850.3	NP_006841.1:p.(Glu158=)	NC_000001.10:g.207075354G>A	VUS	1 lab	bdc9d014e5
18:10760989 PIEZO2 T>C	18	10760989	10760989	T	C	PIEZO2	c.3370A>G	NM_001378183.1	NP_001365112.1:p.(Thr1124Ala)	NC_000018.9:g.10760989T>C	VUS	1 lab	bdcaecb38c
2:179479051 TTN A>C	2	179479051	179479051	A	C	TTN	c.49073T>G	NM_001267550.2	NP_001254479.2:p.(Phe16358Cys)	NC_000002.11:g.179479051A>C	VUS	1 lab	bdce66b232
20:46276064 NCOA3 C>A	20	46276064	46276064	C	A	NCOA3	c.3500C>A	NM_181659.3	NP_858045.1:p.(Pro1167His)	NC_000020.10:g.46276064C>A	VUS	1 lab	bdd042d8c1
1:225519233 DNAH14 G>A	1	225519233	225519233	G	A	DNAH14	c.9818G>A	NM_001367479.1	NP_001354408.1:p.(Arg3273His)	NC_000001.10:g.225519233G>A	VUS	1 lab	bdd71583f5
1:119530404 TBX15 TCTC>T	1	119530404	119530409	TCTC	T	TBX15	c.12_14del	NM_001330677.2	NP_001317606.1:p.(Arg6del)	NC_000001.10:g.119530407_119530409del	VUS	1 lab	bdd72f0df4
3:37067099 MLH1 A>ATTTT	3	37067099	37067120	A	ATTTT	MLH1	c.1039-11_1039-8dup	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067117_37067120dup	(Likely) benign	1 lab	bdd7497a1a
9:2047413 SMARCA2 G>C	9	2047413	2047413	G	C	SMARCA2	c.975G>C	NM_003070.5	NP_003061.3:p.(Gln325His)	NC_000009.11:g.2047413G>C	VUS	1 lab	bdd81978f3
16:67644877 CTCF G>T	16	67644877	67644877	G	T	CTCF	c.142G>T	NM_006565.4	NP_006556.1:p.(Gly48Cys)	NC_000016.9:g.67644877G>T	VUS	1 lab	29f57a8214
12:15130998 PDE6H A>C	12	15130998	15130998	A	C	PDE6H	c.52A>C	NM_006205.3	NP_006196.1:p.(Thr18Pro)	NC_000012.11:g.15130998A>C	VUS	1 lab	bdda61b41d
2:160193532 BAZ2B G>A	2	160193532	160193532	G	A	BAZ2B	c.5717C>T	NM_013450.4	NP_038478.2:p.(Ala1906Val)	NC_000002.11:g.160193532G>A	(Likely) benign	1 lab	bddb74b359
9:100823187 NANS C>T	9	100823187	100823187	C	T	NANS	c.256C>T	NM_018946.4	NP_061819.2:p.(Arg86Ter)	NC_000009.11:g.100823187C>T	(Likely) pathogenic	1 lab	bddb98e8a0
15:43762077 TP53BP1 TGGGATA>T	15	43762077	43762085	TGGGATA	T	TP53BP1	c.1362_1367del	NM_001141980.3	NP_001135452.1:p.(Ile455_Pro456del)	NC_000015.9:g.43762080_43762085del	(Likely) benign	1 lab	bddd90db33
15:89400049 ACAN C>T	15	89400049	89400049	C	T	ACAN	c.4233C>T	NM_001369268.1	NP_001356197.1:p.(Ser1411=)	NC_000015.9:g.89400049C>T	(Likely) benign	1 lab	bdddad922c
14:68353893 RAD51B A>G	14	68353893	68353893	A	G	RAD51B	c.728A>G	NM_133510.4	NP_598194.1:p.(Lys243Arg)	NC_000014.8:g.68353893A>G	VUS	1 lab	bdde4974d4
19:21719648 ZNF429 G>A	19	21719648	21719648	G	A	ZNF429	c.793G>A	NM_001001415.4	NP_001001415.2:p.(Ala265Thr)	NC_000019.9:g.21719648G>A	(Likely) benign	1 lab	bddeef119a
16:55866957 CES1 C>G	16	55866957	55866957	C	G	CES1	c.11G>C	NM_001025195.2	NP_001020366.1:p.(Arg4Pro)	NC_000016.9:g.55866957C>G	(Likely) benign	1 lab	bde088c2a2
17:16852304 TNFRSF13B G>C	17	16852304	16852304	G	C	TNFRSF13B	c.200-7C>G	NM_012452.3	NP_036584.1:p.?	NC_000017.10:g.16852304G>C	(Likely) benign	1 lab	bde08eca65
2:179458084 TTN C>CT	2	179458084	179458088	C	CT	TTN	c.58850dup	NM_001267550.2	NP_001254479.2:p.(Arg19618GlufsTer6)	NC_000002.11:g.179458088dup	(Likely) pathogenic	1 lab	bde211a142
1:206942004 IL10 T>C	1	206942004	206942004	T	C	IL10	c.514A>G	NM_000572.3	NP_000563.1:p.(Met172Val)	NC_000001.10:g.206942004T>C	(Likely) benign	1 lab	2bd5aedcec
12:69121114 NUP107 CTT>C	12	69121114	69121121	CTT	C	NUP107	c.1696-11_1696-10del	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69121120_69121121del	VUS	1 lab	bde48ad6b7
7:1520465 INTS1 C>A	7	1520465	1520465	C	A	INTS1	c.3949+6G>T	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1520465C>A	(Likely) benign	1 lab	bde5ad6901
11:103175453 DYNC2H1 GATTCAGATAA>G	11	103175453	103175465	GATTCAGATAA	G	DYNC2H1	c.11382+7_11382+16del	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103175456_103175465del	(Likely) benign	1 lab	bde6e06c90
8:69027992 PREX2 C>T	8	69027992	69027992	C	T	PREX2	c.3151C>T	NM_024870.4	NP_079146.2:p.(Leu1051=)	NC_000008.10:g.69027992C>T	VUS	1 lab	bde732b939
12:7351705 PEX5 C>T	12	7351705	7351705	C	T	PEX5	c.547C>T	NM_001351132.2	NP_001338061.1:p.(Arg183Cys)	NC_000012.11:g.7351705C>T	VUS	1 lab	bde7ce275a
17:48638843 CACNA1G C>T	17	48638843	48638843	C	T	CACNA1G	c.23C>T	NM_018896.5	NP_061496.2:p.(Ala8Val)	NC_000017.10:g.48638843C>T	VUS	1 lab	bdea07adfb
7:44190668 GCK C>T	7	44190668	44190668	C	T	GCK	c.370G>A	NM_000162.5	NP_000153.1:p.(Asp124Asn)	NC_000007.13:g.44190668C>T	(Likely) pathogenic	1 lab	bdea807200
3:182751841 MCCC1 C>T	3	182751841	182751841	C	T	MCCC1	c.1619G>A	NM_020166.5	NP_064551.3:p.(Ser540Asn)	NC_000003.11:g.182751841C>T	VUS	1 lab	bdeacbaa08
1:186052085 HMCN1 A>G	1	186052085	186052085	A	G	HMCN1	c.8876A>G	NM_031935.3	NP_114141.2:p.(Asn2959Ser)	NC_000001.10:g.186052085A>G	(Likely) benign	1 lab	bdeb391b07
2:242681880 D2HGDH C>A	2	242681880	242681880	C	A	D2HGDH	c.381C>A	NM_152783.5	NP_689996.4:p.(Asn127Lys)	NC_000002.11:g.242681880C>A	VUS	1 lab	bdeeaa1dcf
15:77323560 PSTPIP1 C>T	15	77323560	77323560	C	T	PSTPIP1	c.682C>T	NM_003978.3	NP_003969.2:p.(Arg228Cys)	NC_000015.9:g.77323560C>T	VUS	1 lab	2bd5beee2b
19:48994468 LMTK3 G>A	19	48994468	48994468	G	A	LMTK3	c.4263C>T	NM_001388485.1	NP_001375414.1:p.(Leu1421=)	NC_000019.9:g.48994468G>A	(Likely) benign	1 lab	bdf30c1b0a
3:9034606 SRGAP3 C>T	3	9034606	9034606	C	T	SRGAP3	c.2542G>A	NM_014850.4	NP_055665.1:p.(Gly848Arg)	NC_000003.11:g.9034606C>T	(Likely) benign	1 lab	bdf477438c
X:119070566 NKAP T>A	X	119070566	119070566	T	A	NKAP	c.538+9A>T	NM_024528.4	NP_078804.2:p.?	NC_000023.10:g.119070566T>A	VUS	1 lab	bdf6850067
15:42958013 STARD9 C>G	15	42958013	42958013	C	G	STARD9	c.1284C>G	NM_020759.3	NP_065810.2:p.(Asn428Lys)	NC_000015.9:g.42958013C>G	VUS	1 lab	bdf8ce538d
3:186961274 MASP1 G>C	3	186961274	186961274	G	C	MASP1	c.1226C>G	NM_139125.4	NP_624302.1:p.(Thr409Arg)	NC_000003.11:g.186961274G>C	VUS	1 lab	bdf9fd1f90
X:8138258 VCX2 G>T	X	8138258	8138258	G	T	VCX2	c.235C>A	NM_016378.3	NP_057462.2:p.(Gln79Lys)	NC_000023.10:g.8138258G>T	(Likely) benign	1 lab	bdfac12642
11:62288342 AHNAK C>T	11	62288342	62288342	C	T	AHNAK	c.13547G>A	NM_001620.3	NP_001611.1:p.(Ser4516Asn)	NC_000011.9:g.62288342C>T	(Likely) benign	1 lab	bdfed4a93f
10:101950734 CHUK T>C	10	101950734	101950734	T	C	CHUK	c.2109-9A>G	NM_001278.5	NP_001269.3:p.?	NC_000010.10:g.101950734T>C	(Likely) benign	1 lab	bdfef53404
6:33419634 SYNGAP1 G>A	6	33419634	33419634	G	A	SYNGAP1	c.3983G>A	NM_006772.3	NP_006763.2:p.(Arg1328Gln)	NC_000006.11:g.33419634G>A	(Likely) benign	1 lab	bdff0bd23c
5:225683 SDHA G>T	5	225683	225683	G	T	SDHA	c.456+6G>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.225683G>T	(Likely) benign	1 lab	be005b992b
8:125499215 RNF139 C>T	8	125499215	125499215	C	T	RNF139	c.1325C>T	NM_007218.4	NP_009149.2:p.(Thr442Met)	NC_000008.10:g.125499215C>T	(Likely) benign	1 lab	be030416ff
19:4954680 UHRF1 C>CT	19	4954680	4954681	C	CT	UHRF1	c.1977C>T	NM_001048201.3	NP_001041666.1:p.(Ala659=)	NC_000019.9:g.4954680_4954681insT	VUS	1 lab	be042fdbb4
12:15035186 MGP C>T	12	15035186	15035186	C	T	MGP	c.199G>A	NM_000900.5	NP_000891.2:p.(Glu67Lys)	NC_000012.11:g.15035186C>T	VUS	1 lab	be0501f8e2
20:58441612 SYCP2 C>T	20	58441612	58441612	C	T	SYCP2	c.4158G>A	NM_014258.4	NP_055073.2:p.(Thr1386=)	NC_000020.10:g.58441612C>T	(Likely) benign	1 lab	be05331d07
21:33729850 URB1 A>G	21	33729850	33729850	A	G	URB1	c.1985T>C	NM_014825.3	NP_055640.2:p.(Met662Thr)	NC_000021.8:g.33729850A>G	(Likely) benign	1 lab	be066bcd5b
10:32311831 KIF5B T>G	10	32311831	32311831	T	G	KIF5B	c.1859A>C	NM_004521.3	NP_004512.1:p.(Lys620Thr)	NC_000010.10:g.32311831T>G	VUS	1 lab	be08da5ce6
5:132234070 AFF4 G>A	5	132234070	132234070	G	A	AFF4	c.1241C>T	NM_014423.4	NP_055238.1:p.(Ser414Leu)	NC_000005.9:g.132234070G>A	VUS	1 lab	be0b7f49e4
18:32400855 DTNA A>C	18	32400855	32400855	A	C	DTNA	c.977A>C	NM_001386795.1	NP_001373724.1:p.(Lys326Thr)	NC_000018.9:g.32400855A>C	VUS	1 lab	be0e63db09
22:51018153 CHKB C>G	22	51018153	51018153	C	G	CHKB	c.1031+3G>C	NM_005198.5	NP_005189.2:p.?	NC_000022.10:g.51018153C>G	VUS	1 lab	be0edb79a5
18:21115518 NPC1 A>G	18	21115518	21115518	A	G	NPC1	c.3392T>C	NM_000271.5	NP_000262.2:p.(Ile1131Thr)	NC_000018.9:g.21115518A>G	VUS	1 lab	be0f360b12
11:4076779 STIM1 G>A	11	4076779	4076779	G	A	STIM1	c.409G>A	NM_001382567.1	NP_001369496.1:p.(Val137Met)	NC_000011.9:g.4076779G>A	VUS	1 lab	be10d8a9f4
11:47731963 AGBL2 C>G	11	47731963	47731963	C	G	AGBL2	c.198G>C	NM_024783.4	NP_079059.2:p.(Leu66Phe)	NC_000011.9:g.47731963C>G	VUS	1 lab	be1154820b
19:34868454 GPI C>T	19	34868454	34868454	C	T	GPI	c.449C>T	NM_000175.5	NP_000166.2:p.(Thr150Met)	NC_000019.9:g.34868454C>T	VUS	1 lab	be117d4425
7:50596911 DDC C>G	7	50596911	50596911	C	G	DDC	c.565G>C	NM_001082971.2	NP_001076440.2:p.(Asp189His)	NC_000007.13:g.50596911C>G	VUS	1 lab	29fe70bf4b
8:118817134 EXT1 T>C	8	118817134	118817134	T	C	EXT1	c.1884-2A>G	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.118817134T>C	(Likely) pathogenic	1 lab	be12f2af11
16:81078468 ATMIN A>G	16	81078468	81078468	A	G	ATMIN	c.2365A>G	NM_015251.3	NP_056066.2:p.(Met789Val)	NC_000016.9:g.81078468A>G	(Likely) benign	1 lab	be152dc289
12:11546677 PRB2 C>T	12	11546677	11546677	C	T	PRB2	c.335G>A	NM_006248.4	NP_006239.3:p.(Arg112Gln)	NC_000012.11:g.11546677C>T	VUS	1 lab	be16d6795b
1:23346438 KDM1A A>T	1	23346438	23346438	A	T	KDM1A	c.349A>T	NM_001009999.3	NP_001009999.1:p.(Lys117Ter)	NC_000001.10:g.23346438A>T	(Likely) pathogenic	1 lab	be18072608
20:52198285 ZNF217 C>T	20	52198285	52198285	C	T	ZNF217	c.1081G>A	NM_006526.3	NP_006517.1:p.(Val361Met)	NC_000020.10:g.52198285C>T	VUS	1 lab	be180cb900
13:32968995 BRCA2 T>C	13	32968995	32968995	T	C	BRCA2	c.9426T>C	NM_000059.4	NP_000050.3:p.(Asp3142=)	NC_000013.10:g.32968995T>C	(Likely) benign	1 lab	be1893e578
14:92537397 ATXN3 T>TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537397	92537398	T	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.873-1_873insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92537397_92537398insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	be19d4b750
14:21854013 CHD8 T>G	14	21854013	21854013	T	G	CHD8	c.7505A>C	NM_001170629.2	NP_001164100.1:p.(His2502Pro)	NC_000014.8:g.21854013T>G	(Likely) benign	1 lab	be19f8dbce
22:24109646 CHCHD10 G>A	22	24109646	24109646	G	A	CHCHD10	c.176C>T	NM_213720.3	NP_998885.1:p.(Ser59Leu)	NC_000022.10:g.24109646G>A	(Likely) pathogenic	1 lab	be1a73abc8
7:137531392 DGKI CGCT>C	7	137531392	137531406	CGCT	C	DGKI	c.214_216del	NM_001321708.2	NP_001308637.1:p.(Ser72del)	NC_000007.13:g.137531404_137531406del	(Likely) benign	1 lab	be1aa431aa
8:41554038 ANK1 G>A	8	41554038	41554038	G	A	ANK1	c.2803C>T	NM_000037.4	NP_000028.3:p.(Arg935Ter)	NC_000008.10:g.41554038G>A	(Likely) pathogenic	1 lab	be1b6631de
11:82625847 DDIAS C>A	11	82625847	82625847	C	A	DDIAS	c.67C>A	NM_145018.4	NP_659455.3:p.(Pro23Thr)	NC_000011.9:g.82625847C>A	VUS	1 lab	be1c3c1463
20:62839645 MYT1 G>A	20	62839645	62839645	G	A	MYT1	c.1096G>A	NM_004535.3	NP_004526.1:p.(Glu366Lys)	NC_000020.10:g.62839645G>A	VUS	1 lab	be1ec95937
1:119427576 TBX15 C>T	1	119427576	119427576	C	T	TBX15	c.1588G>A	NM_001330677.2	NP_001317606.1:p.(Ala530Thr)	NC_000001.10:g.119427576C>T	VUS	1 lab	be1f1782b1
16:88872534 CDT1 G>T	16	88872534	88872534	G	T	CDT1	c.933+5G>T	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88872534G>T	VUS	1 lab	be1fa47d4c
8:41906297 KAT6A CTTTA>C	8	41906297	41906304	CTTTA	C	KAT6A	c.195_198del	NM_006766.5	NP_006757.2:p.(Asn65LysfsTer15)	NC_000008.10:g.41906301_41906304del	VUS	1 lab	be20567e29
12:132322770 MMP17 C>G	12	132322770	132322770	C	G	MMP17	c.190C>G	NM_016155.7	NP_057239.4:p.(Pro64Ala)	NC_000012.11:g.132322770C>G	VUS	1 lab	be216b3312
3:178937744 PIK3CA A>G	3	178937744	178937744	A	G	PIK3CA	c.1919A>G	NM_006218.4	NP_006209.2:p.(Lys640Arg)	NC_000003.11:g.178937744A>G	VUS	1 lab	be23703a3a
X:85906054 DACH2 C>T	X	85906054	85906054	C	T	DACH2	c.656C>T	NM_053281.3	NP_444511.1:p.(Ala219Val)	NC_000023.10:g.85906054C>T	(Likely) benign	1 lab	be256e7bb3
8:117862875 RAD21 T>A	8	117862875	117862875	T	A	RAD21	c.1602A>T	NM_006265.3	NP_006256.1:p.(Glu534Asp)	NC_000008.10:g.117862875T>A	VUS	1 lab	be25c0025a
1:22163476 HSPG2 T>TG	1	22163476	22163478	T	TG	HSPG2	c.10173dup	NM_005529.7	NP_005520.4:p.(Thr3392HisfsTer27)	NC_000001.10:g.22163478dup	(Likely) pathogenic	1 lab	be269835ed
17:17698544 RAI1 A>C	17	17698544	17698544	A	C	RAI1	c.2282A>C	NM_030665.4	NP_109590.3:p.(His761Pro)	NC_000017.10:g.17698544A>C	VUS	1 lab	be272f5e60
5:13886238 DNAH5 CCT>C	5	13886238	13886240	CCT	C	DNAH5	c.2578-2_2578-1del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886239_13886240del	(Likely) benign	1 lab	be280a0ab7
3:126723979 PLXNA1 A>G	3	126723979	126723979	A	G	PLXNA1	c.1790A>G	NM_032242.4	NP_115618.3:p.(Asn597Ser)	NC_000003.11:g.126723979A>G	VUS	1 lab	be28cba5a1
5:122426305 PRDM6 C>A	5	122426305	122426305	C	A	PRDM6	c.592+4C>A	NM_001136239.4	NP_001129711.1:p.?	NC_000005.9:g.122426305C>A	(Likely) benign	1 lab	be28f0862b
22:50659745 TUBGCP6 C>T	22	50659745	50659745	C	T	TUBGCP6	c.3043G>A	NM_020461.4	NP_065194.3:p.(Glu1015Lys)	NC_000022.10:g.50659745C>T	(Likely) benign	1 lab	be28fe42c0
2:179439827 TTN G>C	2	179439827	179439827	G	C	TTN	c.71032C>G	NM_001267550.2	NP_001254479.2:p.(Gln23678Glu)	NC_000002.11:g.179439827G>C	VUS	1 lab	be294514b7
6:38885112 DNAH8 A>G	6	38885112	38885112	A	G	DNAH8	c.10238A>G	NM_001206927.2	NP_001193856.1:p.(Lys3413Arg)	NC_000006.11:g.38885112A>G	VUS	1 lab	29ff5c2d76
12:111085402 TCTN1 C>T	12	111085402	111085402	C	T	TCTN1	c.1579-152C>T	NM_024549.6	NP_078825.2:p.?	NC_000012.11:g.111085402C>T	(Likely) benign	1 lab	2be2f13b3e
22:51065689 ARSA C>T	22	51065689	51065689	C	T	ARSA	c.370G>A	NM_000487.6	NP_000478.3:p.(Gly124Ser)	NC_000022.10:g.51065689C>T	(Likely) pathogenic	1 lab	2be4f2953a
9:131689369 PHYHD1 G>T	9	131689369	131689369	G	T	PHYHD1	c.86G>T	NM_001100876.2	NP_001094346.1:p.(Cys29Phe)	NC_000009.11:g.131689369G>T	VUS	1 lab	be2c0c9488
15:45670578 GATM C>T	15	45670578	45670578	C	T	GATM	c.69+5G>A	NM_001482.3	NP_001473.1:p.?	NC_000015.9:g.45670578C>T	VUS	1 lab	be2d3d1169
11:64375377 NRXN2 C>A	11	64375377	64375377	C	A	NRXN2	c.4430G>T	NM_015080.4	NP_055895.1:p.(Cys1477Phe)	NC_000011.9:g.64375377C>A	VUS	1 lab	be30795a5d
16:30773902 RNF40 C>G	16	30773902	30773902	C	G	RNF40	c.36C>G	NM_014771.4	NP_055586.1:p.(Asp12Glu)	NC_000016.9:g.30773902C>G	(Likely) benign	1 lab	be30a0bb23
19:50367023 PNKP G>A	19	50367023	50367023	G	A	PNKP	c.745-6C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50367023G>A	(Likely) benign	1 lab	be30fd08a4
1:153785875 GATAD2B G>A	1	153785875	153785875	G	A	GATAD2B	c.1270C>T	NM_020699.4	NP_065750.1:p.(Arg424Cys)	NC_000001.10:g.153785875G>A	(Likely) benign	1 lab	be31101f55
8:75274116 GDAP1 C>G	8	75274116	75274116	C	G	GDAP1	c.485-3C>G	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75274116C>G	VUS	1 lab	be32b4d025
20:13550159 TASP1 G>A	20	13550159	13550159	G	A	TASP1	c.563C>T	NM_017714.3	NP_060184.2:p.(Thr188Ile)	NC_000020.10:g.13550159G>A	VUS	1 lab	be347e4d8d
6:159401898 RSPH3 C>T	6	159401898	159401898	C	T	RSPH3	c.767G>A	NM_031924.8	NP_114130.4:p.(Arg256Gln)	NC_000006.11:g.159401898C>T	(Likely) benign	1 lab	be35aaff37
12:49426259 KMT2D G>A	12	49426259	49426259	G	A	KMT2D	c.12229C>T	NM_003482.4	NP_003473.3:p.(Leu4077Phe)	NC_000012.11:g.49426259G>A	(Likely) benign	1 lab	be36cf0f38
12:32949241 PKP2 T>G	12	32949241	32949241	T	G	PKP2	c.2168-9A>C	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32949241T>G	VUS	1 lab	be3761ae18
14:105828498 PACS2 G>A	14	105828498	105828498	G	A	PACS2	c.424-5052G>A	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105828498G>A	(Likely) benign	1 lab	be3833c79a
11:67810298 TCIRG1 G>A	11	67810298	67810298	G	A	TCIRG1	c.385G>A	NM_006019.4	NP_006010.2:p.(Ala129Thr)	NC_000011.9:g.67810298G>A	(Likely) benign	1 lab	be3899549a
1:230372444 GALNT2 C>T	1	230372444	230372444	C	T	GALNT2	c.580C>T	NM_004481.5	NP_004472.1:p.(Arg194Ter)	NC_000001.10:g.230372444C>T	(Likely) pathogenic	1 lab	be39521239
8:133142164 KCNQ3 G>A	8	133142164	133142164	G	A	KCNQ3	c.1964C>T	NM_004519.4	NP_004510.1:p.(Thr655Met)	NC_000008.10:g.133142164G>A	(Likely) benign	1 lab	be395ef66d
15:90167538 TICRR C>G	15	90167538	90167538	C	G	TICRR	c.3997C>G	NM_152259.4	NP_689472.3:p.(Pro1333Ala)	NC_000015.9:g.90167538C>G	VUS	1 lab	be39ec0c88
17:73836181 UNC13D G>A	17	73836181	73836181	G	A	UNC13D	c.869C>T	NM_199242.2	NP_954712.1:p.(Ser290Leu)	NC_000017.10:g.73836181G>A	(Likely) benign	1 lab	33745e1944
3:113507577 ATP6V1A C>G	3	113507577	113507577	C	G	ATP6V1A	c.734C>G	NM_001690.4	NP_001681.2:p.(Thr245Ser)	NC_000003.11:g.113507577C>G	VUS	1 lab	be3a1ec656
8:100123318 VPS13B C>T	8	100123318	100123318	C	T	VPS13B	c.581-8C>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100123318C>T	(Likely) benign	1 lab	be3b05171d
5:88018681 MEF2C G>A	5	88018681	88018681	G	A	MEF2C	c.1162C>T	NM_002397.5	NP_002388.2:p.(Leu388Phe)	NC_000005.9:g.88018681G>A	VUS	1 lab	be3b1f43a7
16:8829615 ABAT G>A	16	8829615	8829615	G	A	ABAT	c.19G>A	NM_020686.6	NP_065737.2:p.(Ala7Thr)	NC_000016.9:g.8829615G>A	VUS	1 lab	be3b22f0b2
8:21981284 HR C>T	8	21981284	21981284	C	T	HR	c.1793G>A	NM_005144.5	NP_005135.2:p.(Arg598His)	NC_000008.10:g.21981284C>T	(Likely) benign	1 lab	be3b7435a7
20:58450519 SYCP2 C>T	20	58450519	58450519	C	T	SYCP2	c.3156G>A	NM_014258.4	NP_055073.2:p.(Glu1052=)	NC_000020.10:g.58450519C>T	(Likely) benign	1 lab	be3b7b496e
5:60183284 ERCC8 C>G	5	60183284	60183284	C	G	ERCC8	c.1105G>C	NM_000082.4	NP_000073.1:p.(Val369Leu)	NC_000005.9:g.60183284C>G	VUS	1 lab	be3c2d0e81
20:33033084 ITCH TGA>T	20	33033084	33033086	TGA	T	ITCH	c.966-7_966-6del	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33033085_33033086del	(Likely) benign	1 lab	be3c6d79e8
7:5427647 TNRC18 C>T	7	5427647	5427647	C	T	TNRC18	c.1808G>A	NM_001080495.3	NP_001073964.2:p.(Arg603His)	NC_000007.13:g.5427647C>T	(Likely) benign	1 lab	be3c8cab06
6:106968762 CRYBG1 G>A	6	106968762	106968762	G	A	CRYBG1	c.3679G>A	NM_001371242.2	NP_001358171.1:p.(Val1227Ile)	NC_000006.11:g.106968762G>A	VUS	1 lab	be3cc5c816
1:171605092 MYOC AGTGACCAT>A	1	171605092	171605102	AGTGACCAT	A	MYOC	c.1480_1487del	NM_000261.2	NP_000252.1:p.(Met494LeufsTer2)	NC_000001.10:g.171605095_171605102del	VUS	1 lab	be3d0b711e
11:34074097 CAPRIN1 A>G	11	34074097	34074097	A	G	CAPRIN1	c.130A>G	NM_005898.5	NP_005889.3:p.(Thr44Ala)	NC_000011.9:g.34074097A>G	(Likely) benign	1 lab	be3d229ee1
13:100637804 ZIC2 AGGCGGCGGCAGCGGCAGTGGCGGGGGCGGCGGCGGGGCGGGCGGCGGG>A	13	100637804	100637864	AGGCGGCGGCAGCGGCAGTGGCGGGGGCGGCGGCGGGGCGGGCGGCGGG	A	ZIC2	c.1480_1527del	NM_007129.5	NP_009060.2:p.(Gly494_Ser509del)	NC_000013.10:g.100637817_100637864del	(Likely) benign	1 lab	be3dafdfdb
X:63410503 AMER1 G>C	X	63410503	63410503	G	C	AMER1	c.2664C>G	NM_152424.4	NP_689637.3:p.(Ala888=)	NC_000023.10:g.63410503G>C	(Likely) benign	1 lab	be3df4ba4c
16:57490558 COQ9 AG>A	16	57490558	57490559	AG	A	COQ9	c.521+1del	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57490559del	(Likely) pathogenic	1 lab	2a02c1cb7c
X:100912094 ARMCX2 G>C	X	100912094	100912094	G	C	ARMCX2	c.481C>G	NM_177949.4	NP_808818.1:p.(Pro161Ala)	NC_000023.10:g.100912094G>C	VUS	1 lab	be3f5f32ba
5:176084572 TSPAN17 AG>A	5	176084572	176084574	AG	A	TSPAN17	c.865del	NM_130465.5	NP_569732.2:p.(Val289SerfsTer12)	NC_000005.9:g.176084574del	VUS	1 lab	be40d5fa7f
11:89867946 NAALAD2 G>C	11	89867946	89867946	G	C	NAALAD2	c.20G>C	NM_005467.4	NP_005458.1:p.(Arg7Pro)	NC_000011.9:g.89867946G>C	VUS	1 lab	be40eaa6ef
X:26236041 MAGEB5 C>A	X	26236041	26236041	C	A	MAGEB5	c.623C>A	NM_001271752.1	NP_001258681.1:p.(Ala208Asp)	NC_000023.10:g.26236041C>A	VUS	1 lab	be412fec7d
7:42088230 GLI3 C>T	7	42088230	42088230	C	T	GLI3	c.539G>A	NM_000168.6	NP_000159.3:p.(Arg180Gln)	NC_000007.13:g.42088230C>T	VUS	1 lab	be41a1f335
15:79058213 ADAMTS7 A>G	15	79058213	79058213	A	G	ADAMTS7	c.4040T>C	NM_014272.5	NP_055087.2:p.(Met1347Thr)	NC_000015.9:g.79058213A>G	(Likely) benign	1 lab	be4266f098
17:39919484 JUP GGA>G	17	39919484	39919489	GGA	G	JUP	c.1246_1247del	NM_002230.4	NP_002221.1:p.(Ser416GlnfsTer31)	NC_000017.10:g.39919488_39919489del	VUS	1 lab	be44970854
X:37966024 SYTL5 C>T	X	37966024	37966024	C	T	SYTL5	c.1334C>T	NM_138780.3	NP_620135.1:p.(Ala445Val)	NC_000023.10:g.37966024C>T	(Likely) benign	1 lab	be44ea6bff
19:35250472 ZNF599 G>A	19	35250472	35250472	G	A	ZNF599	c.1234C>T	NM_001007248.3	NP_001007249.1:p.(Arg412Ter)	NC_000019.9:g.35250472G>A	VUS	1 lab	be46004edb
16:56868076 NUP93 G>A	16	56868076	56868076	G	A	NUP93	c.1574G>A	NM_014669.5	NP_055484.3:p.(Arg525Gln)	NC_000016.9:g.56868076G>A	VUS	1 lab	be4696e0a3
5:140221099 PCDHA1 CG>C	5	140221099	140221102	CG	C	PCDHA1	c.2394+52833del	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140221102del	(Likely) benign	1 lab	be46d43c25
19:45448118 APOC4 C>T	19	45448118	45448118	C	T	APOC4	c.189C>T	NM_001646.3	NP_001637.1:p.(Asn63=)	NC_000019.9:g.45448118C>T	VUS	1 lab	be4727e2d5
7:39991252 CDK13 C>T	7	39991252	39991252	C	T	CDK13	c.1012C>T	NM_003718.5	NP_003709.3:p.(Arg338Cys)	NC_000007.13:g.39991252C>T	VUS	1 lab	be491ebc13
5:86633813 RASA1 A>G	5	86633813	86633813	A	G	RASA1	c.922A>G	NM_002890.3	NP_002881.1:p.(Ile308Val)	NC_000005.9:g.86633813A>G	(Likely) benign	1 lab	be4957dce1
20:52645123 BCAS1 T>TG	20	52645123	52645124	T	TG	BCAS1	c.530dup	NM_001366298.2	NP_001353227.1:p.(Gly178ArgfsTer18)	NC_000020.10:g.52645124dup	VUS	1 lab	be49bbe609
12:71974191 LGR5 T>A	12	71974191	71974191	T	A	LGR5	c.1540T>A	NM_003667.4	NP_003658.1:p.(Phe514Ile)	NC_000012.11:g.71974191T>A	(Likely) benign	1 lab	be4a09594f
12:78225404 NAV3 C>T	12	78225404	78225404	C	T	NAV3	c.163C>T	NM_001024383.2	NP_001019554.1:p.(Gln55Ter)	NC_000012.11:g.78225404C>T	VUS	1 lab	be4c70b1c3
12:113596737 CFAP73 C>A	12	113596737	113596737	C	A	CFAP73	c.*243C>A	NM_001144872.3	NP_001138344.1:p.?	NC_000012.11:g.113596737C>A	VUS	1 lab	be4d09b8ef
12:103352171 PAH CGCAGCAGCAGCAGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCAGCAGCAGCAGCA	C	PAH	c.-315_-295del	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352188_103352208del	VUS	1 lab	2a099bcefa
12:108913122 FICD G>A	12	108913122	108913122	G	A	FICD	c.1247G>A	NM_007076.3	NP_009007.2:p.(Arg416His)	NC_000012.11:g.108913122G>A	VUS	1 lab	be4e208531
3:100170600 LNP1 A>ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT	3	100170600	100170628	A	ATCCTAGAAGGCATTCTCATGAGGACCAGGAATTCCGATGCCGATCGTCTGACCGTCT	LNP1	c.221_222insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA	NM_001085451.2	NP_001078920.1:p.(Ser80_His81insSerAspArgLeuProArgArgHisSerHisGluAspGlnGluPheArgCysArgSer)	NC_000003.11:g.100170627_100170628insGGAATTCCGATGCCGATCGTCTGACCGTCTTCCTAGAAGGCATTCTCATGAGGACCA	VUS	1 lab	be4e445c06
10:134648935 CFAP46 G>A	10	134648935	134648935	G	A	CFAP46	c.6617C>T	NM_001200049.3	NP_001186978.2:p.(Ser2206Phe)	NC_000010.10:g.134648935G>A	(Likely) benign	1 lab	be4f557215
10:89623928 PTEN G>A	10	89623928	89623928	G	A	PTEN	c.-299G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623928G>A	VUS	1 lab	be50829477
8:145009211 PLEC C>T	8	145009211	145009211	C	T	PLEC	c.793G>A	NM_201384.3	NP_958786.1:p.(Val265Met)	NC_000008.10:g.145009211C>T	VUS	1 lab	be515e5404
14:105418707 AHNAK2 C>T	14	105418707	105418707	C	T	AHNAK2	c.3081G>A	NM_138420.4	NP_612429.2:p.(Lys1027=)	NC_000014.8:g.105418707C>T	(Likely) benign	1 lab	be5225df0f
9:94486267 ROR2 A>C	9	94486267	94486267	A	C	ROR2	c.2509T>G	NM_004560.4	NP_004551.2:p.(Phe837Val)	NC_000009.11:g.94486267A>C	VUS	1 lab	be5612655d
18:43488043 EPG5 G>A	18	43488043	43488043	G	A	EPG5	c.4209C>T	NM_020964.3	NP_066015.2:p.(Leu1403=)	NC_000018.9:g.43488043G>A	(Likely) benign	1 lab	be57e82dd7
12:2927299 ITFG2 G>A	12	2927299	2927299	G	A	ITFG2	c.262G>A	NM_018463.4	NP_060933.3:p.(Gly88Ser)	NC_000012.11:g.2927299G>A	VUS	1 lab	be58d5566e
1:145299837 NBPF10 C>T	1	145299837	145299837	C	T	NBPF10	c.886C>T	NM_001302371.3	NP_001289300.1:p.(Arg296Cys)	NC_000001.10:g.145299837C>T	VUS	1 lab	be5a0bf1dd
X:53263895 IQSEC2 G>C	X	53263895	53263895	G	C	IQSEC2	c.3973C>G	NM_001111125.3	NP_001104595.1:p.(His1325Asp)	NC_000023.10:g.53263895G>C	(Likely) benign	1 lab	be5c0e99c4
2:238249422 COL6A3 T>C	2	238249422	238249422	T	C	COL6A3	c.8137A>G	NM_004369.4	NP_004360.2:p.(Arg2713Gly)	NC_000002.11:g.238249422T>C	VUS	1 lab	be5d36e6a8
9:33796766 PRSS3 C>T	9	33796766	33796766	C	T	PRSS3	c.166C>T	NM_002771.4	NP_002762.3:p.(Gln56Ter)	NC_000009.11:g.33796766C>T	(Likely) benign	1 lab	be5d4a0607
7:98491442 TRRAP C>A	7	98491442	98491442	C	A	TRRAP	c.388C>A	NM_001375524.1	NP_001362453.1:p.(Leu130Ile)	NC_000007.13:g.98491442C>A	(Likely) benign	1 lab	be60692af4
11:113146033 NCAM1 C>T	11	113146033	113146033	C	T	NCAM1	c.2501C>T	NM_181351.5	NP_851996.2:p.(Thr834Met)	NC_000011.9:g.113146033C>T	(Likely) benign	1 lab	be60a1ba2a
2:179434996 TTN C>T	2	179434996	179434996	C	T	TTN	c.75863G>A	NM_001267550.2	NP_001254479.2:p.(Gly25288Asp)	NC_000002.11:g.179434996C>T	VUS	1 lab	be6134c863
4:2822484 SH3BP2 AGTCCCTGGGGTG>A	4	2822484	2822498	AGTCCCTGGGGTG	A	SH3BP2	c.136+7_136+18del	NM_001122681.2	NP_001116153.1:p.?	NC_000004.11:g.2822487_2822498del	(Likely) benign	1 lab	be617a907a
4:88537169 DSPP GACAGCAGCA>G	4	88537169	88537179	GACAGCAGCA	G	DSPP	c.3357_3365del	NM_014208.3	NP_055023.2:p.(Asn1122_Ser1124del)	NC_000004.11:g.88537171_88537179del	(Likely) benign	1 lab	be61850272
6:152690712 SYNE1 G>T	6	152690712	152690712	G	T	SYNE1	c.9545C>A	NM_182961.4	NP_892006.3:p.(Ala3182Asp)	NC_000006.11:g.152690712G>T	VUS	1 lab	be62f3d341
19:40357682 FCGBP C>T	19	40357682	40357682	C	T	FCGBP	c.15631G>A	NM_003890.3	NP_003881.2:p.(Ala5211Thr)	NC_000019.9:g.40357682C>T	(Likely) benign	1 lab	be6662519e
17:44846049 WNT3 C>G	17	44846049	44846049	C	G	WNT3	c.705G>C	NM_030753.5	NP_110380.1:p.(Lys235Asn)	NC_000017.10:g.44846049C>G	VUS	1 lab	be67b05253
7:26233263 HNRNPA2B1 CCAT>C	7	26233263	26233266	CCAT	C	HNRNPA2B1	c.770_772del	NM_002137.4	NP_002128.1:p.(Tyr257_Gly258delinsCys)	NC_000007.13:g.26233264_26233266del	VUS	1 lab	be68126486
20:47538429 ARFGEF2 G>T	20	47538429	47538429	G	T	ARFGEF2	c.3G>T	NM_006420.3	NP_006411.2:p.(Met1?)	NC_000020.10:g.47538429G>T	VUS	1 lab	be681ae827
2:65571909 SPRED2 C>T	2	65571909	65571909	C	T	SPRED2	c.148G>A	NM_181784.3	NP_861449.2:p.(Glu50Lys)	NC_000002.11:g.65571909C>T	VUS	1 lab	be682d99f4
8:144893116 SCRIB G>A	8	144893116	144893116	G	A	SCRIB	c.1233C>T	NM_182706.5	NP_874365.3:p.(Leu411=)	NC_000008.10:g.144893116G>A	VUS	1 lab	be6a7d91e5
9:34256073 KIF24 CCT>C	9	34256073	34256077	CCT	C	KIF24	c.3530_3531del	NM_194313.4	NP_919289.2:p.(Glu1177GlyfsTer36)	NC_000009.11:g.34256076_34256077del	VUS	1 lab	be6af5baa2
16:69726370 NFAT5 G>A	16	69726370	69726370	G	A	NFAT5	c.2642G>A	NM_138713.4	NP_619727.2:p.(Gly881Glu)	NC_000016.9:g.69726370G>A	(Likely) benign	1 lab	be6b12ff62
9:35683246 TPM2 G>T	9	35683246	35683246	G	T	TPM2	c.773-8C>A	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35683246G>T	(Likely) benign	1 lab	be6b6e39fb
5:139232616 NRG2 C>T	5	139232616	139232616	C	T	NRG2	c.1293-4G>A	NM_004883.3	NP_004874.1:p.?	NC_000005.9:g.139232616C>T	(Likely) benign	1 lab	be6c76f56d
19:13364576 CACNA1A C>T	19	13364576	13364576	C	T	CACNA1A	c.4756-661G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13364576C>T	(Likely) benign	1 lab	be6d95c97f
19:15272167 NOTCH3 G>A	19	15272167	15272167	G	A	NOTCH3	c.6272C>T	NM_000435.3	NP_000426.2:p.(Pro2091Leu)	NC_000019.9:g.15272167G>A	VUS	1 lab	be6e953fb0
X:50051997 CCNB3 G>A	X	50051997	50051997	G	A	CCNB3	c.828G>A	NM_033031.3	NP_149020.2:p.(Glu276=)	NC_000023.10:g.50051997G>A	VUS	1 lab	be6f508b4f
X:74742805 ZDHHC15 C>G	X	74742805	74742805	C	G	ZDHHC15	c.55G>C	NM_144969.3	NP_659406.1:p.(Val19Leu)	NC_000023.10:g.74742805C>G	VUS	1 lab	be7cfe8032
X:605261 SHOX G>T	X	605261	605261	G	T	SHOX	c.769G>T	NM_000451.3	NP_000442.1:p.(Ala257Ser)	NC_000023.10:g.605261G>T	VUS	1 lab	be711cf0c3
11:118461115 ARCN1 A>G	11	118461115	118461115	A	G	ARCN1	c.878A>G	NM_001655.5	NP_001646.2:p.(Gln293Arg)	NC_000011.9:g.118461115A>G	VUS	1 lab	be71a1f8a4
2:71740424 DYSF A>G	2	71740424	71740424	A	G	DYSF	c.515A>G	NM_001130987.2	NP_001124459.1:p.(Asp172Gly)	NC_000002.11:g.71740424A>G	(Likely) benign	1 lab	be71b9bfc9
7:72755347 FKBP6 C>A	7	72755347	72755347	C	A	FKBP6	c.859C>A	NM_003602.5	NP_003593.3:p.(His287Asn)	NC_000007.13:g.72755347C>A	(Likely) benign	1 lab	be7411b17e
19:47425225 ARHGAP35 G>A	19	47425225	47425225	G	A	ARHGAP35	c.3293G>A	NM_004491.5	NP_004482.4:p.(Arg1098Lys)	NC_000019.9:g.47425225G>A	(Likely) benign	1 lab	be742763f4
5:140720358 PCDHGA1 A>G	5	140720358	140720358	A	G	PCDHGA1	c.2421+7686A>G	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140720358A>G	VUS	1 lab	be74851dc6
19:50826335 KCNC3 C>G	19	50826335	50826335	C	G	KCNC3	c.1875G>C	NM_004977.3	NP_004968.2:p.(Arg625Ser)	NC_000019.9:g.50826335C>G	VUS	1 lab	be7aeeb013
14:105243083 AKT1 C>T	14	105243083	105243083	C	T	AKT1	c.200G>A	NM_001382430.1	NP_001369359.1:p.(Arg67Gln)	NC_000014.8:g.105243083C>T	VUS	1 lab	be7c470a55
4:166385575 CPE A>T	4	166385575	166385575	A	T	CPE	c.341A>T	NM_001873.4	NP_001864.1:p.(His114Leu)	NC_000004.11:g.166385575A>T	VUS	1 lab	be7c4e7171
19:50168032 IRF3 C>T	19	50168032	50168032	C	T	IRF3	c.64G>A	NM_001571.6	NP_001562.1:p.(Glu22Lys)	NC_000019.9:g.50168032C>T	(Likely) benign	1 lab	2bf1705a10
X:147030204 FMR1 TCAGAGTTGACTG>T	X	147030204	147030218	TCAGAGTTGACTG	T	FMR1	c.1742_1753del	NM_002024.6	NP_002015.1:p.(Arg581_Cys584del)	NC_000023.10:g.147030207_147030218del	VUS	1 lab	be7d347a8b
14:67770244 PALS1 T>A	14	67770244	67770244	T	A	PALS1	c.969T>A	NM_022474.4	NP_071919.2:p.(Asp323Glu)	NC_000014.8:g.67770244T>A	(Likely) benign	1 lab	be7d4de31b
15:49033905 CEP152 T>C	15	49033905	49033905	T	C	CEP152	c.3990-4A>G	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49033905T>C	VUS	1 lab	be7db47adb
13:22275473 FGF9 A>G	13	22275473	22275473	A	G	FGF9	c.526A>G	NM_002010.3	NP_002001.1:p.(Thr176Ala)	NC_000013.10:g.22275473A>G	VUS	1 lab	bee94a7765
X:112022688 AMOT G>GGCAGTGATGGCGGCA	X	112022688	112022709	G	GGCAGTGATGGCGGCA	AMOT	c.2679_2693dup	NM_001113490.2	NP_001106962.1:p.(Ala894_Ala898dup)	NC_000023.10:g.112022695_112022709dup	(Likely) benign	1 lab	be7ed1cbb9
19:49657757 HRC A>T	19	49657757	49657757	A	T	HRC	c.738T>A	NM_002152.3	NP_002143.1:p.(Asp246Glu)	NC_000019.9:g.49657757A>T	VUS	1 lab	be7fcc003d
14:54417368 BMP4 TC>T	14	54417368	54417369	TC	T	BMP4	c.608del	NM_001202.6	NP_001193.2:p.(Arg203AsnfsTer7)	NC_000014.8:g.54417369del	VUS	1 lab	be813a6a3a
5:112174511 APC A>G	5	112174511	112174511	A	G	APC	c.3220A>G	NM_000038.6	NP_000029.2:p.(Thr1074Ala)	NC_000005.9:g.112174511A>G	VUS	1 lab	be84d2826a
11:108153555 ATM C>G	11	108153555	108153555	C	G	ATM	c.3695C>G	NM_000051.4	NP_000042.3:p.(Ser1232Cys)	NC_000011.9:g.108153555C>G	VUS	1 lab	be8555a26f
14:21862429 CHD8 T>G	14	21862429	21862429	T	G	CHD8	c.5599+7A>C	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21862429T>G	VUS	1 lab	be85c72e4c
15:99500436 IGF1R C>T	15	99500436	99500436	C	T	IGF1R	c.3869C>T	NM_000875.5	NP_000866.1:p.(Pro1290Leu)	NC_000015.9:g.99500436C>T	VUS	1 lab	be8a069cf3
5:149754325 TCOF1 C>T	5	149754325	149754325	C	T	TCOF1	c.1229C>T	NM_001371623.1	NP_001358552.1:p.(Ser410Leu)	NC_000005.9:g.149754325C>T	(Likely) benign	1 lab	be8c07746f
13:31789193 B3GLCT G>T	13	31789193	31789193	G	T	B3GLCT	c.76G>T	NM_194318.4	NP_919299.3:p.(Gly26Cys)	NC_000013.10:g.31789193G>T	(Likely) benign	1 lab	be8c19289d
9:138662839 KCNT1 A>G	9	138662839	138662839	A	G	KCNT1	c.1906A>G	NM_020822.3	NP_065873.2:p.(Ile636Val)	NC_000009.11:g.138662839A>G	(Likely) benign	1 lab	be8ce2739d
1:202569580 SYT2 C>T	1	202569580	202569580	C	T	SYT2	c.824G>A	NM_177402.5	NP_796376.2:p.(Cys275Tyr)	NC_000001.10:g.202569580C>T	VUS	1 lab	be8db28550
5:137226266 PKD2L2 G>A	5	137226266	137226266	G	A	PKD2L2	c.128G>A	NM_001300921.2	NP_001287850.1:p.(Cys43Tyr)	NC_000005.9:g.137226266G>A	VUS	1 lab	be8e3b5afd
15:91561079 VPS33B G>T	15	91561079	91561079	G	T	VPS33B	c.133C>A	NM_018668.5	NP_061138.3:p.(Leu45Ile)	NC_000015.9:g.91561079G>T	(Likely) benign	1 lab	be8fda0cd3
7:39745776 RALA G>T	7	39745776	39745776	G	T	RALA	c.553G>T	NM_005402.4	NP_005393.2:p.(Glu185Ter)	NC_000007.13:g.39745776G>T	VUS	1 lab	be9049f068
6:158567927 SERAC1 T>C	6	158567927	158567927	T	C	SERAC1	c.374A>G	NM_032861.4	NP_116250.3:p.(Asp125Gly)	NC_000006.11:g.158567927T>C	(Likely) benign	1 lab	be9055b9f2
4:5812155 EVC G>A	4	5812155	5812155	G	A	EVC	c.2872G>A	NM_153717.3	NP_714928.1:p.(Asp958Asn)	NC_000004.11:g.5812155G>A	(Likely) benign	1 lab	be907cae7b
16:88793539 PIEZO1 T>C	16	88793539	88793539	T	C	PIEZO1	c.3363A>G	NM_001142864.4	NP_001136336.2:p.(Thr1121=)	NC_000016.9:g.88793539T>C	(Likely) benign	1 lab	be90f2f6d4
17:12921070 ELAC2 C>T	17	12921070	12921070	C	T	ELAC2	c.195G>A	NM_018127.7	NP_060597.4:p.(Ala65=)	NC_000017.10:g.12921070C>T	VUS	1 lab	be9185f2d1
1:225519280 DNAH14 G>A	1	225519280	225519280	G	A	DNAH14	c.9864+1G>A	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225519280G>A	VUS	1 lab	be9e0d6ab5
2:179485601 TTN C>T	2	179485601	179485601	C	T	TTN	c.45736G>A	NM_001267550.2	NP_001254479.2:p.(Ala15246Thr)	NC_000002.11:g.179485601C>T	(Likely) benign	1 lab	be91d0e951
8:77763148 ZFHX4 A>G	8	77763148	77763148	A	G	ZFHX4	c.3991A>G	NM_024721.5	NP_078997.4:p.(Met1331Val)	NC_000008.10:g.77763148A>G	(Likely) benign	1 lab	be925593db
2:179473518 TTN T>C	2	179473518	179473518	T	C	TTN	c.25400A>G	NM_133432.3	NP_597676.3:p.(Glu8467Gly)	NC_000002.11:g.179473518T>C	VUS	1 lab	2bfc3d321c
16:2810466 SRRM2 G>A	16	2810466	2810466	G	A	SRRM2	c.998G>A	NM_016333.4	NP_057417.3:p.(Ser333Asn)	NC_000016.9:g.2810466G>A	(Likely) benign	1 lab	be930d7181
X:63412982 AMER1 C>A	X	63412982	63412982	C	A	AMER1	c.185G>T	NM_152424.4	NP_689637.3:p.(Gly62Val)	NC_000023.10:g.63412982C>A	VUS	1 lab	be9356105d
2:179552961 TTN A>G	2	179552961	179552961	A	G	TTN	c.32198-10T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179552961A>G	(Likely) benign	1 lab	be93962d03
11:17409347 KCNJ11 C>T	11	17409347	17409347	C	T	KCNJ11	c.292G>A	NM_000525.4	NP_000516.3:p.(Gly98Ser)	NC_000011.9:g.17409347C>T	VUS	1 lab	be96d3f38d
11:10781728 CTR9 C>T	11	10781728	10781728	C	T	CTR9	c.601C>T	NM_014633.5	NP_055448.1:p.(Arg201Cys)	NC_000011.9:g.10781728C>T	VUS	1 lab	be97896608
18:24128222 KCTD1 T>C	18	24128222	24128222	T	C	KCTD1	c.279A>G	NM_001142730.3	NP_001136202.1:p.(Glu93=)	NC_000018.9:g.24128222T>C	(Likely) benign	1 lab	be97f96c32
19:6837061 VAV1 T>C	19	6837061	6837061	T	C	VAV1	c.1980T>C	NM_005428.4	NP_005419.2:p.(His660=)	NC_000019.9:g.6837061T>C	(Likely) benign	1 lab	be99e3ee3c
2:241706382 KIF1A A>G	2	241706382	241706382	A	G	KIF1A	c.1634T>C	NM_001244008.2	NP_001230937.1:p.(Ile545Thr)	NC_000002.11:g.241706382A>G	VUS	1 lab	be9bf1c92b
6:170594222 DLL1 T>C	6	170594222	170594222	T	C	DLL1	c.1034A>G	NM_005618.4	NP_005609.3:p.(Asp345Gly)	NC_000006.11:g.170594222T>C	VUS	1 lab	be9d6c8b0d
1:196395072 KCNT2 A>T	1	196395072	196395072	A	T	KCNT2	c.1031T>A	NM_198503.5	NP_940905.2:p.(Val344Asp)	NC_000001.10:g.196395072A>T	VUS	1 lab	be9e0ce91b
5:140725322 PCDHGA1 C>T	5	140725322	140725322	C	T	PCDHGA1	c.2421+12650C>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140725322C>T	VUS	1 lab	be9f1af5b5
17:56801398 RAD51C CA>C	17	56801398	56801399	CA	C	RAD51C	c.905-2del	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56801399del	(Likely) pathogenic	1 lab	bea037ffec
12:103248971 PAH A>C	12	103248971	103248971	A	C	PAH	c.649T>G	NM_000277.3	NP_000268.1:p.(Cys217Gly)	NC_000012.11:g.103248971A>C	(Likely) pathogenic	1 lab	2bfdc0d5c1
1:61872238 NFIA A>G	1	61872238	61872238	A	G	NFIA	c.1259A>G	NM_001134673.4	NP_001128145.1:p.(Asn420Ser)	NC_000001.10:g.61872238A>G	(Likely) benign	1 lab	bea0c6a041
3:123015018 ADCY5 G>C	3	123015018	123015018	G	C	ADCY5	c.2976C>G	NM_183357.3	NP_899200.1:p.(Ile992Met)	NC_000003.11:g.123015018G>C	VUS	1 lab	bea58a4db8
14:105238797 AKT1 C>T	14	105238797	105238797	C	T	AKT1	c.1173-8G>A	NM_001382430.1	NP_001369359.1:p.?	NC_000014.8:g.105238797C>T	(Likely) benign	1 lab	bea6c5e938
20:21686580 PAX1 G>GCCCCGGCCA	20	21686580	21686605	G	GCCCCGGCCA	PAX1	c.247_255dup	NM_001257096.2	NP_001244025.1:p.(His83_Gly85dup)	NC_000020.10:g.21686597_21686605dup	VUS	1 lab	bea736c5fc
16:2231210 CASKIN1 G>A	16	2231210	2231210	G	A	CASKIN1	c.2159C>T	NM_020764.4	NP_065815.1:p.(Pro720Leu)	NC_000016.9:g.2231210G>A	(Likely) benign	1 lab	bea95e0156
15:89398543 ACAN C>T	15	89398543	89398543	C	T	ACAN	c.2727C>T	NM_001369268.1	NP_001356197.1:p.(Gly909=)	NC_000015.9:g.89398543C>T	(Likely) benign	1 lab	beac87c908
6:86267774 SNX14 T>G	6	86267774	86267774	T	G	SNX14	c.554A>C	NM_153816.6	NP_722523.1:p.(Asp185Ala)	NC_000006.11:g.86267774T>G	VUS	1 lab	beb0b21488
2:219677688 CYP27A1 C>T	2	219677688	219677688	C	T	CYP27A1	c.886C>T	NM_000784.4	NP_000775.1:p.(Gln296Ter)	NC_000002.11:g.219677688C>T	(Likely) pathogenic	1 lab	beb2105f5f
5:126770374 MEGF10 T>C	5	126770374	126770374	T	C	MEGF10	c.1841-5T>C	NM_001256545.2	NP_001243474.1:p.?	NC_000005.9:g.126770374T>C	(Likely) benign	1 lab	beb22f9792
1:227153394 COQ8A G>A	1	227153394	227153394	G	A	COQ8A	c.611G>A	NM_020247.5	NP_064632.2:p.(Arg204Gln)	NC_000001.10:g.227153394G>A	VUS	1 lab	beb2658018
1:205797844 PM20D1 TGAG>T	1	205797844	205797847	TGAG	T	PM20D1	c.1410_1412del	NM_152491.5	NP_689704.4:p.(Ser471del)	NC_000001.10:g.205797845_205797847del	VUS	1 lab	beb42169c6
13:111111262 COL4A2 C>T	13	111111262	111111262	C	T	COL4A2	c.1577C>T	NM_001846.4	NP_001837.2:p.(Pro526Leu)	NC_000013.10:g.111111262C>T	VUS	1 lab	beb4282434
2:29295186 PCARE C>T	2	29295186	29295186	C	T	PCARE	c.1942G>A	NM_001029883.3	NP_001025054.1:p.(Ala648Thr)	NC_000002.11:g.29295186C>T	(Likely) benign	1 lab	beb4a69152
1:46739327 RAD54L G>A	1	46739327	46739327	G	A	RAD54L	c.1518G>A	NM_003579.4	NP_003570.2:p.(Ala506=)	NC_000001.10:g.46739327G>A	(Likely) benign	1 lab	beb4e659ec
6:17629603 NUP153 T>C	6	17629603	17629603	T	C	NUP153	c.2827A>G	NM_005124.4	NP_005115.2:p.(Ile943Val)	NC_000006.11:g.17629603T>C	(Likely) benign	1 lab	beb5e6c182
3:63898394 ATXN7 G>GCCGCCT	3	63898394	63898404	G	GCCGCCT	ATXN7	c.125_130dup	NM_001377405.1	NP_001364334.1:p.(Pro42_Pro43dup)	NC_000003.11:g.63898399_63898404dup	VUS	1 lab	beb6ef3bb6
21:47422632 COL6A1 T>TGGGGCCGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGC	21	47422632	47422639	T	TGGGGCCGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGC	COL6A1	c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422638_47422639insGCCCGAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCC	(Likely) benign	1 lab	beb9ad3bd2
21:47817943 PCNT C>T	21	47817943	47817943	C	T	PCNT	c.4462C>T	NM_006031.6	NP_006022.3:p.(Arg1488Trp)	NC_000021.8:g.47817943C>T	VUS	1 lab	c03219e153
1:46685377 LURAP1 C>T	1	46685377	46685377	C	T	LURAP1	c.205C>T	NM_001013615.3	NP_001013633.1:p.(Leu69=)	NC_000001.10:g.46685377C>T	(Likely) benign	1 lab	bebb20f922
5:71491976 MAP1B G>A	5	71491976	71491976	G	A	MAP1B	c.2794G>A	NM_005909.5	NP_005900.2:p.(Gly932Ser)	NC_000005.9:g.71491976G>A	VUS	1 lab	2a17a2fd04
2:179398516 TTN G>A	2	179398516	179398516	G	A	TTN	c.102826C>T	NM_001267550.2	NP_001254479.2:p.(Arg34276Trp)	NC_000002.11:g.179398516G>A	VUS	1 lab	bebbbc4e56
20:44578120 ZNF335 C>T	20	44578120	44578120	C	T	ZNF335	c.3753+4G>A	NM_022095.4	NP_071378.1:p.?	NC_000020.10:g.44578120C>T	(Likely) benign	1 lab	bebc17623c
16:614727 PRR35 G>A	16	614727	614727	G	A	PRR35	c.1136G>A	NM_145270.3	NP_660313.1:p.(Gly379Asp)	NC_000016.9:g.614727G>A	VUS	1 lab	bebd153227
11:108196886 ATM G>A	11	108196886	108196886	G	A	ATM	c.6909G>A	NM_000051.4	NP_000042.3:p.(Lys2303=)	NC_000011.9:g.108196886G>A	(Likely) benign	1 lab	2a17f847f2
22:26304346 MYO18B C>T	22	26304346	26304346	C	T	MYO18B	c.5206C>T	NM_032608.7	NP_115997.5:p.(Arg1736Cys)	NC_000022.10:g.26304346C>T	VUS	1 lab	bebea99982
17:29325716 RNF135 C>G	17	29325716	29325716	C	G	RNF135	c.806C>G	NM_032322.4	NP_115698.3:p.(Ser269Cys)	NC_000017.10:g.29325716C>G	(Likely) benign	1 lab	bebebcc87c
8:94816990 TMEM67 A>G	8	94816990	94816990	A	G	TMEM67	c.2323A>G	NM_153704.6	NP_714915.3:p.(Ile775Val)	NC_000008.10:g.94816990A>G	VUS	1 lab	bec0cc91a9
2:8966051 KIDINS220 TACAA>T	2	8966051	8966056	TACAA	T	KIDINS220	c.108+1061_108+1064del	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8966053_8966056del	(Likely) benign	1 lab	bec15757e2
12:121426828 HNF1A G>A	12	121426828	121426828	G	A	HNF1A	c.519G>A	NM_000545.8	NP_000536.6:p.(Val173=)	NC_000012.11:g.121426828G>A	(Likely) benign	1 lab	bec2b23d11
17:17039561 MPRIP CCAGCAGCAG>C	17	17039561	17039596	CCAGCAGCAG	C	MPRIP	c.560_568del	NM_001364716.4	NP_001351645.2:p.(Ser187_Ser189del)	NC_000017.10:g.17039588_17039596del	VUS	1 lab	bec41fcabc
11:124791104 HEPACAM GTGCGCGAGGCGC>G	11	124791104	124791124	GTGCGCGAGGCGC	G	HEPACAM	c.1169_1180del	NM_152722.5	NP_689935.2:p.(Ser390_Arg393del)	NC_000011.9:g.124791113_124791124del	(Likely) benign	1 lab	bec57b27fa
X:150156357 HMGB3 AGAGGAG>A	X	150156357	150156380	AGAGGAG	A	HMGB3	c.591_596del	NM_005342.4	NP_005333.2:p.(Glu197_Glu198del)	NC_000023.10:g.150156375_150156380del	VUS	1 lab	bec7669fa9
3:196199009 RNF168 C>T	3	196199009	196199009	C	T	RNF168	c.1397G>A	NM_152617.4	NP_689830.2:p.(Arg466Gln)	NC_000003.11:g.196199009C>T	VUS	1 lab	bec851c98f
4:88537446 DSPP G>A	4	88537446	88537446	G	A	DSPP	c.3632G>A	NM_014208.3	NP_055023.2:p.(Ser1211Asn)	NC_000004.11:g.88537446G>A	(Likely) benign	1 lab	bec856fee6
6:49425195 MMUT T>C	6	49425195	49425195	T	C	MMUT	c.753+209A>G	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49425195T>C	(Likely) benign	1 lab	bec8c50973
2:113310346 POLR1B A>C	2	113310346	113310346	A	C	POLR1B	c.1111A>C	NM_019014.6	NP_061887.2:p.(Asn371His)	NC_000002.11:g.113310346A>C	(Likely) benign	1 lab	bec8e36a3d
10:26359144 MYO3A G>A	10	26359144	26359144	G	A	MYO3A	c.1275G>A	NM_017433.5	NP_059129.3:p.(Gln425=)	NC_000010.10:g.26359144G>A	(Likely) benign	1 lab	bec954cc96
1:237947870 RYR2 C>T	1	237947870	237947870	C	T	RYR2	c.12858C>T	NM_001035.3	NP_001026.2:p.(Ser4286=)	NC_000001.10:g.237947870C>T	(Likely) benign	1 lab	2a1a2d14d1
16:30732510 SRCAP T>C	16	30732510	30732510	T	C	SRCAP	c.3254T>C	NM_006662.3	NP_006653.2:p.(Val1085Ala)	NC_000016.9:g.30732510T>C	(Likely) benign	1 lab	beccf28d02
13:32752539 FRY C>G	13	32752539	32752539	C	G	FRY	c.2647C>G	NM_023037.3	NP_075463.2:p.(Arg883Gly)	NC_000013.10:g.32752539C>G	VUS	1 lab	becd57b3fd
19:36224345 KMT2B C>T	19	36224345	36224345	C	T	KMT2B	c.6895C>T	NM_014727.3	NP_055542.1:p.(Arg2299Trp)	NC_000019.9:g.36224345C>T	(Likely) benign	1 lab	becd734412
17:76420272 PGS1 C>T	17	76420272	76420272	C	T	PGS1	c.*141C>T	NM_024419.5	NP_077733.3:p.?	NC_000017.10:g.76420272C>T	(Likely) benign	1 lab	bece020cd1
1:209799263 LAMB3 C>T	1	209799263	209799263	C	T	LAMB3	c.1706G>A	NM_001017402.2	NP_001017402.1:p.(Arg569Gln)	NC_000001.10:g.209799263C>T	VUS	1 lab	2a1ece78f2
6:31930271 SKIC2 C>T	6	31930271	31930271	C	T	SKIC2	c.1120C>T	NM_006929.5	NP_008860.4:p.(Arg374Ter)	NC_000006.11:g.31930271C>T	(Likely) pathogenic	1 lab	becff6899e
20:3208474 SLC4A11 C>G	20	3208474	3208474	C	G	SLC4A11	c.2587G>C	NM_001174089.2	NP_001167560.1:p.(Ala863Pro)	NC_000020.10:g.3208474C>G	VUS	1 lab	bed2d6bd75
21:45713654 AIRE C>T	21	45713654	45713654	C	T	AIRE				NC_000021.8:g.45713654C>T	(Likely) benign	1 lab	2c387b6ab9
16:57609428 ADGRG5 G>C	16	57609428	57609428	G	C	ADGRG5	c.1565G>C	NM_001304376.3	NP_001291305.1:p.(Ser522Thr)	NC_000016.9:g.57609428G>C	(Likely) benign	1 lab	bed3aa1b6c
1:152284319 FLG C>T	1	152284319	152284319	C	T	FLG	c.3043G>A	NM_002016.2	NP_002007.1:p.(Gly1015Ser)	NC_000001.10:g.152284319C>T	VUS	1 lab	bed42db5d9
16:2134632 TSC2 G>A	16	2134632	2134632	G	A	TSC2	c.4409G>A	NM_000548.5	NP_000539.2:p.(Arg1470His)	NC_000016.9:g.2134632G>A	VUS	1 lab	bed7b7ce25
1:5939658 NPHP4 T>A	1	5939658	5939658	T	A	NPHP4	c.2611+516A>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5939658T>A	VUS	1 lab	bed7ce14f7
20:31626754 BPIFB6 C>T	20	31626754	31626754	C	T	BPIFB6	c.886C>T	NM_174897.2	NP_777557.1:p.(Arg296Cys)	NC_000020.10:g.31626754C>T	(Likely) benign	1 lab	bed8a8d1d4
11:118391551 KMT2A C>T	11	118391551	118391551	C	T	KMT2A	c.11464C>T	NM_001197104.2	NP_001184033.1:p.(Arg3822Cys)	NC_000011.9:g.118391551C>T	VUS	1 lab	bed8d1df0b
X:71350254 NHSL2 C>A	X	71350254	71350254	C	A	NHSL2	c.281-1675C>A	NM_001013627.3	NP_001013649.2:p.?	NC_000023.10:g.71350254C>A	(Likely) benign	1 lab	bed9edc920
4:1801054 FGFR3 TC>T	4	1801054	1801059	TC	T	FGFR3	c.188del	NM_000142.5	NP_000133.1:p.(Pro63ArgfsTer35)	NC_000004.11:g.1801059del	VUS	1 lab	beda60065d
13:95034756 GPC6 C>T	13	95034756	95034756	C	T	GPC6	c.1241C>T	NM_005708.5	NP_005699.1:p.(Ala414Val)	NC_000013.10:g.95034756C>T	VUS	1 lab	bedaf22b4c
20:47570183 ARFGEF2 C>T	20	47570183	47570183	C	T	ARFGEF2	c.694C>T	NM_006420.3	NP_006411.2:p.(Arg232Cys)	NC_000020.10:g.47570183C>T	VUS	1 lab	bedbe0e316
13:101890174 NALCN G>GT	13	101890174	101890175	G	GT	NALCN	c.1365dup	NM_052867.4	NP_443099.1:p.(Leu456ThrfsTer32)	NC_000013.10:g.101890175dup	VUS	1 lab	bedc880e2b
X:133609267 HPRT1 C>A	X	133609267	133609267	C	A	HPRT1	c.191C>A	NM_000194.3	NP_000185.1:p.(Ala64Asp)	NC_000023.10:g.133609267C>A	(Likely) pathogenic	1 lab	2c018bf51c
17:8381754 MYH10 C>T	17	8381754	8381754	C	T	MYH10	c.5608G>A	NM_001256012.3	NP_001242941.1:p.(Ala1870Thr)	NC_000017.10:g.8381754C>T	VUS	1 lab	beded06f7d
17:39432110 KRTAP9-7 A>C	17	39432110	39432110	A	C	KRTAP9-7	c.161A>C	NM_001277332.1	NP_001264261.1:p.(Asn54Thr)	NC_000017.10:g.39432110A>C	(Likely) benign	1 lab	bee2d1ae17
9:140807697 CACNA1B C>T	9	140807697	140807697	C	T	CACNA1B	c.596C>T	NM_000718.4	NP_000709.1:p.(Pro199Leu)	NC_000009.11:g.140807697C>T	VUS	1 lab	bee5e1b7af
9:135946477 CEL A>G	9	135946477	135946477	A	G	CEL	c.1588A>G	NM_001807.6	NP_001798.3:p.(Met530Val)	NC_000009.11:g.135946477A>G	(Likely) benign	1 lab	bee62978c1
7:75614176 POR C>T	7	75614176	75614176	C	T	POR	c.1148C>T	NM_000941.3	NP_000932.3:p.(Pro383Leu)	NC_000007.13:g.75614176C>T	(Likely) benign	1 lab	bee9114b05
11:126314915 KIRREL3 C>T	11	126314915	126314915	C	T	KIRREL3	c.1211G>A	NM_032531.4	NP_115920.1:p.(Arg404His)	NC_000011.9:g.126314915C>T	VUS	1 lab	bee9df9a5d
19:1469695 APC2 A>G	19	1469695	1469695	A	G	APC2	c.6395A>G	NM_005883.3	NP_005874.1:p.(Glu2132Gly)	NC_000019.9:g.1469695A>G	(Likely) benign	1 lab	beecd659bf
8:145741153 RECQL4 C>T	8	145741153	145741153	C	T	RECQL4	c.1253G>A	NM_004260.4	NP_004251.4:p.(Arg418Gln)	NC_000008.10:g.145741153C>T	(Likely) benign	1 lab	beee155a83
5:149748340 TCOF1 C>T	5	149748340	149748340	C	T	TCOF1	c.440C>T	NM_001371623.1	NP_001358552.1:p.(Thr147Met)	NC_000005.9:g.149748340C>T	(Likely) benign	1 lab	beef633496
9:124062414 GSN T>C	9	124062414	124062414	T	C	GSN	c.-9-1827T>C	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062414T>C	(Likely) benign	1 lab	bef0a87a3f
19:18899393 COMP G>T	19	18899393	18899393	G	T	COMP	c.762+8C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899393G>T	(Likely) benign	1 lab	bef0e6f899
12:122285083 HPD C>T	12	122285083	122285083	C	T	HPD	c.634G>A	NM_002150.3	NP_002141.2:p.(Val212Met)	NC_000012.11:g.122285083C>T	VUS	1 lab	bef119f8f7
10:70673183 DDX50 G>A	10	70673183	70673183	G	A	DDX50	c.794G>A	NM_024045.2	NP_076950.1:p.(Gly265Glu)	NC_000010.10:g.70673183G>A	VUS	1 lab	bef1bc687a
20:43043289 HNF4A C>T	20	43043289	43043289	C	T	HNF4A	c.635C>T	NM_000457.5	NP_000448.3:p.(Pro212Leu)	NC_000020.10:g.43043289C>T	VUS	1 lab	bef292190b
11:71146624 DHCR7 C>T	11	71146624	71146624	C	T	DHCR7	c.1225G>A	NM_001360.3	NP_001351.2:p.(Val409Ile)	NC_000011.9:g.71146624C>T	VUS	1 lab	bef3bbf61a
17:59465991 BCAS3 G>GA	17	59465991	59466001	G	GA	BCAS3	c.2594-3337dup	NM_017679.5	NP_060149.3:p.?	NC_000017.10:g.59466001dup	(Likely) benign	1 lab	bef4964b7e
2:228566935 SLC19A3 A>AT	2	228566935	228566936	A	AT	SLC19A3	c.99dup	NM_025243.4	NP_079519.1:p.(Phe34IlefsTer11)	NC_000002.11:g.228566936dup	(Likely) pathogenic	1 lab	bef4d62aa1
4:114095597 ANK2 G>A	4	114095597	114095597	G	A	ANK2	c.110G>A	NM_001148.6	NP_001139.3:p.(Arg37His)	NC_000004.11:g.114095597G>A	VUS	1 lab	bef51dffad
X:135441581 ADGRG4 G>T	X	135441581	135441581	G	T	ADGRG4	c.7111G>T	NM_153834.4	NP_722576.3:p.(Val2371Leu)	NC_000023.10:g.135441581G>T	VUS	1 lab	bef7489f2f
9:139915224 ABCA2 G>A	9	139915224	139915224	G	A	ABCA2	c.1187C>T	NM_001606.5	NP_001597.2:p.(Pro396Leu)	NC_000009.11:g.139915224G>A	(Likely) benign	1 lab	bef7879d12
X:103495088 ESX1 G>C	X	103495088	103495088	G	C	ESX1	c.1042C>G	NM_153448.4	NP_703149.1:p.(Leu348Val)	NC_000023.10:g.103495088G>C	(Likely) benign	1 lab	bef79e3d3f
16:8621132 TMEM114 TA>T	16	8621132	8621136	TA	T	TMEM114	c.-536+956del	NM_001146336.2	NP_001139808.1:p.?	NC_000016.9:g.8621136del	VUS	1 lab	bef96a26b5
X:65390555 HEPH C>T	X	65390555	65390555	C	T	HEPH	c.143C>T	NM_001367233.3	NP_001354162.2:p.(Thr48Met)	NC_000023.10:g.65390555C>T	VUS	1 lab	befad8769d
2:25965940 ASXL2 T>C	2	25965940	25965940	T	C	ASXL2	c.3266A>G	NM_018263.6	NP_060733.4:p.(Asn1089Ser)	NC_000002.11:g.25965940T>C	(Likely) benign	1 lab	befb82e2ef
12:56094078 ITGA7 C>T	12	56094078	56094078	C	T	ITGA7	c.671-305G>A	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56094078C>T	VUS	1 lab	befbba67cf
12:48370605 COL2A1 G>T	12	48370605	48370605	G	T	COL2A1	c.3425C>A	NM_001844.5	NP_001835.3:p.(Pro1142His)	NC_000012.11:g.48370605G>T	VUS	1 lab	befc423c1d
11:62416609 INTS5 G>T	11	62416609	62416609	G	T	INTS5	c.943C>A	NM_030628.2	NP_085131.1:p.(Arg315=)	NC_000011.9:g.62416609G>T	VUS	1 lab	befc6b588c
14:30046611 PRKD1 G>A	14	30046611	30046611	G	A	PRKD1	c.2572C>T	NM_002742.3	NP_002733.2:p.(Arg858Cys)	NC_000014.8:g.30046611G>A	(Likely) benign	1 lab	befd23774e
8:38003544 STAR G>A	8	38003544	38003544	G	A	STAR	c.587C>T	NM_000349.3	NP_000340.2:p.(Thr196Ile)	NC_000008.10:g.38003544G>A	VUS	1 lab	bf013dfa02
11:75277621 SERPINH1 C>T	11	75277621	75277621	C	T	SERPINH1	c.227C>T	NM_001235.5	NP_001226.2:p.(Ser76Leu)	NC_000011.9:g.75277621C>T	VUS	1 lab	bf03642557
2:39278401 SOS1 C>T	2	39278401	39278401	C	T	SOS1	c.748G>A	NM_005633.4	NP_005624.2:p.(Val250Ile)	NC_000002.11:g.39278401C>T	(Likely) benign	1 lab	bf0539d9a7
1:39852864 MACF1 C>T	1	39852864	39852864	C	T	MACF1	c.14350C>T	NM_001394062.1	NP_001380991.1:p.(Arg4784Cys)	NC_000001.10:g.39852864C>T	VUS	1 lab	bf05e61a6a
22:29107943 CHEK2 T>C	22	29107943	29107943	T	C	CHEK2	c.746A>G	NM_007194.4	NP_009125.1:p.(Lys249Arg)	NC_000022.10:g.29107943T>C	VUS	1 lab	2a2083cd3a
10:27459542 MASTL A>G	10	27459542	27459542	A	G	MASTL	c.1654A>G	NM_001172303.3	NP_001165774.1:p.(Ser552Gly)	NC_000010.10:g.27459542A>G	VUS	1 lab	bf0b277e6d
17:36091637 HNF1B G>A	17	36091637	36091637	G	A	HNF1B	c.994C>T	NM_000458.4	NP_000449.1:p.(His332Tyr)	NC_000017.10:g.36091637G>A	VUS	1 lab	bf0b425409
2:178685023 PDE11A C>T	2	178685023	178685023	C	T	PDE11A	c.1501-1G>A	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178685023C>T	VUS	1 lab	bf0d56ebca
1:11853984 MTHFR C>T	1	11853984	11853984	C	T	MTHFR	c.1510G>A	NM_005957.5	NP_005948.3:p.(Gly504Arg)	NC_000001.10:g.11853984C>T	VUS	1 lab	bf0d6215f2
21:46924416 COL18A1 CGGCCCCCCCGGCCCCCCA>C	21	46924416	46924442	CGGCCCCCCCGGCCCCCCA	C	COL18A1	c.2823_2840del	NM_001379500.1	NP_001366429.1:p.(Pro944_Pro949del)	NC_000021.8:g.46924425_46924442del	(Likely) benign	1 lab	bf0dbfa5d8
11:70332826 SHANK2 G>A	11	70332826	70332826	G	A	SHANK2	c.3572C>T	NM_012309.5	NP_036441.2:p.(Ala1191Val)	NC_000011.9:g.70332826G>A	VUS	1 lab	bf0e1ac705
6:87966748 ZNF292 G>T	6	87966748	87966748	G	T	ZNF292	c.3401G>T	NM_015021.3	NP_055836.1:p.(Arg1134Leu)	NC_000006.11:g.87966748G>T	VUS	1 lab	bf0ef2ee8c
16:2169177 PKD1 G>A	16	2169177	2169177	G	A	PKD1	c.297C>T	NM_001009944.3	NP_001009944.3:p.(Ser99=)	NC_000016.9:g.2169177G>A	(Likely) benign	1 lab	bf0fa66dea
6:137167207 PEX7 G>T	6	137167207	137167207	G	T	PEX7	c.418-4G>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137167207G>T	(Likely) benign	1 lab	bf1003e1ab
17:7999971 ALOXE3 G>A	17	7999971	7999971	G	A	ALOXE3	c.2110C>T	NM_021628.3	NP_067641.2:p.(Leu704Phe)	NC_000017.10:g.7999971G>A	VUS	1 lab	bf10cf2012
16:30735151 SRCAP G>T	16	30735151	30735151	G	T	SRCAP	c.4406G>T	NM_006662.3	NP_006653.2:p.(Gly1469Val)	NC_000016.9:g.30735151G>T	VUS	1 lab	bf10df898f
5:126791300 MEGF10 G>A	5	126791300	126791300	G	A	MEGF10	c.3232+1G>A	NM_001256545.2	NP_001243474.1:p.?	NC_000005.9:g.126791300G>A	VUS	1 lab	bf113e81e0
5:152871804 GRIA1 G>A	5	152871804	152871804	G	A	GRIA1	c.82+1274G>A	NM_000827.4	NP_000818.2:p.?	NC_000005.9:g.152871804G>A	(Likely) benign	1 lab	bf146f342d
16:2160349 PKD1 AG>A	16	2160349	2160351	AG	A	PKD1	c.4818del	NM_001009944.3	NP_001009944.3:p.(Phe1607SerfsTer26)	NC_000016.9:g.2160351del	(Likely) pathogenic	1 lab	bf14994b88
20:62292738 RTEL1 C>T	20	62292738	62292738	C	T	RTEL1	c.190C>T	NM_001283009.2	NP_001269938.1:p.(Arg64Ter)	NC_000020.10:g.62292738C>T	VUS	1 lab	bf1512de9a
18:56001132 NEDD4L A>T	18	56001132	56001132	A	T	NEDD4L	c.1065+8A>T	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56001132A>T	(Likely) benign	1 lab	bf15d35ff5
8:38105232 DDHD2 A>G	8	38105232	38105232	A	G	DDHD2	c.1127A>G	NM_015214.3	NP_056029.2:p.(Asp376Gly)	NC_000008.10:g.38105232A>G	(Likely) benign	1 lab	bf17c2f228
22:32791056 RTCB C>T	22	32791056	32791056	C	T	RTCB	c.1136G>A	NM_014306.5	NP_055121.1:p.(Arg379His)	NC_000022.10:g.32791056C>T	VUS	1 lab	bf18dfcd0e
1:152285679 FLG C>G	1	152285679	152285679	C	G	FLG	c.1683G>C	NM_002016.2	NP_002007.1:p.(Gln561His)	NC_000001.10:g.152285679C>G	(Likely) benign	1 lab	bf1a09940b
5:61648541 KIF2A T>A	5	61648541	61648541	T	A	KIF2A	c.457+4T>A	NM_001098511.3	NP_001091981.1:p.?	NC_000005.9:g.61648541T>A	(Likely) benign	1 lab	bf1a0caa61
8:37623131 PLPBP C>T	8	37623131	37623131	C	T	PLPBP	c.187C>T	NM_007198.4	NP_009129.1:p.(Arg63Cys)	NC_000008.10:g.37623131C>T	VUS	1 lab	bf1a9e188c
2:179474997 TTN G>A	2	179474997	179474997	G	A	TTN	c.51256C>T	NM_001267550.2	NP_001254479.2:p.(Arg17086Cys)	NC_000002.11:g.179474997G>A	(Likely) benign	1 lab	bf1aba8597
11:32697110 CCDC73 C>T	11	32697110	32697110	C	T	CCDC73	c.645+1G>A	NM_001008391.4	NP_001008392.2:p.?	NC_000011.9:g.32697110C>T	VUS	1 lab	bf1ad37bed
3:58131644 FLNB C>T	3	58131644	58131644	C	T	FLNB	c.5426-4C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58131644C>T	(Likely) benign	1 lab	bf1f33480a
2:179451935 TTN C>T	2	179451935	179451935	C	T	TTN	c.64003G>A	NM_001267550.2	NP_001254479.2:p.(Glu21335Lys)	NC_000002.11:g.179451935C>T	(Likely) benign	1 lab	bf1fa16e1a
9:35740902 GBA2 C>T	9	35740902	35740902	C	T	GBA2	c.946G>A	NM_020944.3	NP_065995.1:p.(Gly316Arg)	NC_000009.11:g.35740902C>T	(Likely) benign	1 lab	bf21597703
16:2818145 SRRM2 C>T	16	2818145	2818145	C	T	SRRM2	c.7616C>T	NM_016333.4	NP_057417.3:p.(Ser2539Phe)	NC_000016.9:g.2818145C>T	VUS	1 lab	bf236963f5
19:47260003 FKRP G>A	19	47260003	47260003	G	A	FKRP	c.1296G>A	NM_024301.5	NP_077277.1:p.(Trp432Ter)	NC_000019.9:g.47260003G>A	VUS	1 lab	bf23bb7221
X:100747237 ARMCX4 G>C	X	100747237	100747237	G	C	ARMCX4	c.3661G>C	NM_001256155.3	NP_001243084.2:p.(Gly1221Arg)	NC_000023.10:g.100747237G>C	(Likely) benign	1 lab	bf23e3644d
X:91133943 PCDH11X A>G	X	91133943	91133943	A	G	PCDH11X	c.2704A>G	NM_032968.5	NP_116750.1:p.(Arg902Gly)	NC_000023.10:g.91133943A>G	(Likely) benign	1 lab	bf241fa3ed
22:50969220 CIMAP1B T>C	22	50969220	50969220	T	C	CIMAP1B	c.602A>G	NM_001014440.4	NP_001014440.2:p.(Gln201Arg)	NC_000022.10:g.50969220T>C	VUS	1 lab	bf2452fbd5
21:40665745 BRWD1 A>T	21	40665745	40665745	A	T	BRWD1	c.823T>A	NM_033656.4	NP_387505.1:p.(Ser275Thr)	NC_000021.8:g.40665745A>T	VUS	1 lab	bf247004bb
7:760025 PRKAR1B T>A	7	760025	760025	T	A	PRKAR1B	c.-23+6822A>T	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.760025T>A	(Likely) benign	1 lab	bf28ca47d9
15:33194111 FMN1 C>T	15	33194111	33194111	C	T	FMN1	c.3507+1G>A	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33194111C>T	VUS	1 lab	bf28e97371
7:119915626 KCND2 G>C	7	119915626	119915626	G	C	KCND2	c.940G>C	NM_012281.3	NP_036413.1:p.(Gly314Arg)	NC_000007.13:g.119915626G>C	VUS	1 lab	bf2b167cdb
12:111348927 MYL2 T>C	12	111348927	111348927	T	C	MYL2	c.455A>G	NM_000432.4	NP_000423.2:p.(Tyr152Cys)	NC_000012.11:g.111348927T>C	VUS	1 lab	bf2ba0f293
14:65236278 SPTB A>G	14	65236278	65236278	A	G	SPTB	c.5937+30T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65236278A>G	(Likely) benign	1 lab	2c073116b7
15:89399339 ACAN G>A	15	89399339	89399339	G	A	ACAN	c.3523G>A	NM_001369268.1	NP_001356197.1:p.(Ala1175Thr)	NC_000015.9:g.89399339G>A	VUS	1 lab	bf2c3b87a3
2:230701542 TRIP12 A>C	2	230701542	230701542	A	C	TRIP12	c.1270+22T>G	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230701542A>C	(Likely) benign	1 lab	bf2ce0f3dd
7:117188889 CFTR G>A	7	117188889	117188889	G	A	CFTR	c.1392+12G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117188889G>A	VUS	1 lab	2c0757d28b
4:16228091 TAPT1 C>T	4	16228091	16228091	C	T	TAPT1	c.-11G>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16228091C>T	VUS	1 lab	bf2df522c0
6:30622536 DHX16 G>A	6	30622536	30622536	G	A	DHX16	c.2944C>T	NM_003587.5	NP_003578.2:p.(Arg982Cys)	NC_000006.11:g.30622536G>A	VUS	1 lab	bf2e04add8
17:56274355 EPX G>T	17	56274355	56274355	G	T	EPX	c.857G>T	NM_000502.6	NP_000493.1:p.(Arg286Leu)	NC_000017.10:g.56274355G>T	VUS	1 lab	bf2ea50f06
19:38993528 RYR1 G>A	19	38993528	38993528	G	A	RYR1	c.7844G>A	NM_000540.3	NP_000531.2:p.(Arg2615His)	NC_000019.9:g.38993528G>A	VUS	1 lab	bf2efb95c6
5:176024150 GPRIN1 C>A	5	176024150	176024150	C	A	GPRIN1	c.2686G>T	NM_052899.3	NP_443131.2:p.(Ala896Ser)	NC_000005.9:g.176024150C>A	VUS	1 lab	bf2f3219c4
22:45996205 FBLN1 G>A	22	45996205	45996205	G	A	FBLN1	c.1991G>A	NM_006486.3	NP_006477.3:p.(Arg664Gln)	NC_000022.10:g.45996205G>A	(Likely) benign	1 lab	bf2f698163
9:35793083 NPR2 C>T	9	35793083	35793083	C	T	NPR2	c.667+11C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35793083C>T	(Likely) benign	1 lab	bf2f96e4e3
2:112540065 ANAPC1 C>G	2	112540065	112540065	C	G	ANAPC1	c.5083G>C	NM_022662.4	NP_073153.1:p.(Gly1695Arg)	NC_000002.11:g.112540065C>G	VUS	1 lab	bf30419ebc
5:14716877 ANKH T>A	5	14716877	14716877	T	A	ANKH	c.1079A>T	NM_054027.6	NP_473368.1:p.(Asp360Val)	NC_000005.9:g.14716877T>A	VUS	1 lab	bf30dd8153
10:87615940 GRID1 T>C	10	87615940	87615940	T	C	GRID1	c.959A>G	NM_017551.3	NP_060021.1:p.(Asn320Ser)	NC_000010.10:g.87615940T>C	VUS	1 lab	bf30fd7a4d
2:179413435 TTN T>C	2	179413435	179413435	T	C	TTN	c.92918A>G	NM_001267550.2	NP_001254479.2:p.(His30973Arg)	NC_000002.11:g.179413435T>C	VUS	1 lab	bf32d2af95
7:44185201 GCK G>A	7	44185201	44185201	G	A	GCK	c.1148C>T	NM_000162.5	NP_000153.1:p.(Ser383Leu)	NC_000007.13:g.44185201G>A	(Likely) pathogenic	1 lab	bf332d53c6
19:8649865 ADAMTS10 T>G	19	8649865	8649865	T	G	ADAMTS10	c.3116A>C	NM_030957.4	NP_112219.3:p.(His1039Pro)	NC_000019.9:g.8649865T>G	(Likely) benign	1 lab	bf33eb6acf
12:102811688 IGF1 C>T	12	102811688	102811688	C	T	IGF1	c.402+1599G>A	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102811688C>T	(Likely) benign	1 lab	bf343ccb67
5:137717221 KDM3B C>T	5	137717221	137717221	C	T	KDM3B	c.722C>T	NM_016604.4	NP_057688.3:p.(Ser241Leu)	NC_000005.9:g.137717221C>T	(Likely) benign	1 lab	bf3643dec8
2:228786283 DAW1 G>A	2	228786283	228786283	G	A	DAW1	c.1213+6G>A	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228786283G>A	(Likely) benign	1 lab	bf3870ee04
4:88535868 DSPP A>G	4	88535868	88535868	A	G	DSPP	c.2054A>G	NM_014208.3	NP_055023.2:p.(Asn685Ser)	NC_000004.11:g.88535868A>G	(Likely) benign	1 lab	bf38e6a479
20:61468452 COL9A3 G>A	20	61468452	61468452	G	A	COL9A3	c.1621G>A	NM_001853.4	NP_001844.3:p.(Ala541Thr)	NC_000020.10:g.61468452G>A	VUS	1 lab	bf3946ac72
11:8959369 ASCL3 C>A	11	8959369	8959369	C	A	ASCL3	c.340G>T	NM_020646.3	NP_065697.1:p.(Ala114Ser)	NC_000011.9:g.8959369C>A	VUS	1 lab	bf3957d501
21:33057801 SCAF4 GA>G	21	33057801	33057803	GA	G	SCAF4	c.2210-5del	NM_020706.2	NP_065757.1:p.?	NC_000021.8:g.33057803del	(Likely) benign	1 lab	bf39a8e2ff
12:52082546 SCN8A A>G	12	52082546	52082546	A	G	SCN8A	c.615-243A>G	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52082546A>G	VUS	1 lab	bf3c253286
7:47906115 PKD1L1 G>A	7	47906115	47906115	G	A	PKD1L1	c.3994C>T	NM_138295.5	NP_612152.1:p.(Arg1332Cys)	NC_000007.13:g.47906115G>A	VUS	1 lab	bf3eb667e1
14:21866016 CHD8 G>A	14	21866016	21866016	G	A	CHD8	c.5017C>T	NM_001170629.2	NP_001164100.1:p.(Arg1673Ter)	NC_000014.8:g.21866016G>A	(Likely) pathogenic	1 lab	2a20ee9d0f
7:83823894 SEMA3A C>G	7	83823894	83823894	C	G	SEMA3A	c.9G>C	NM_006080.3	NP_006071.1:p.(Trp3Cys)	NC_000007.13:g.83823894C>G	(Likely) benign	1 lab	bf44a110aa
11:1256323 MUC5B G>C	11	1256323	1256323	G	C	MUC5B	c.2639G>C	NM_002458.3	NP_002449.2:p.(Arg880Thr)	NC_000011.9:g.1256323G>C	(Likely) benign	1 lab	bf451b1fcb
10:114912172 TCF7L2 C>A	10	114912172	114912172	C	A	TCF7L2	c.1242C>A	NM_001367943.1	NP_001354872.1:p.(Tyr414Ter)	NC_000010.10:g.114912172C>A	(Likely) pathogenic	1 lab	bf4581db22
18:60025472 TNFRSF11A T>C	18	60025472	60025472	T	C	TNFRSF11A				NC_000018.9:g.60025472T>C	(Likely) benign	1 lab	2c08382302
1:44073985 PTPRF C>T	1	44073985	44073985	C	T	PTPRF	c.3858-1069C>T	NM_002840.5	NP_002831.2:p.?	NC_000001.10:g.44073985C>T	(Likely) benign	1 lab	bf4741a820
11:46921869 LRP4 G>A	11	46921869	46921869	G	A	LRP4	c.260C>T	NM_002334.4	NP_002325.2:p.(Ser87Phe)	NC_000011.9:g.46921869G>A	VUS	1 lab	bf47e62e70
X:70361139 MED12 GCAACAGCAA>G	X	70361139	70361159	GCAACAGCAA	G	MED12	c.6339_6347del	NM_005120.3	NP_005111.2:p.(Gln2113_Gln2115del)	NC_000023.10:g.70361151_70361159del	(Likely) benign	1 lab	bf48679403
11:63342508 PLAAT3 A>T	11	63342508	63342508	A	T	PLAAT3	c.398T>A	NM_001128203.2	NP_001121675.1:p.(Val133Asp)	NC_000011.9:g.63342508A>T	(Likely) benign	1 lab	bf4891f8da
3:154802113 MME G>A	3	154802113	154802113	G	A	MME	c.157G>A	NM_007289.4	NP_009220.2:p.(Asp53Asn)	NC_000003.11:g.154802113G>A	(Likely) benign	1 lab	bf48efaf19
4:38016364 TBC1D1 CATG>C	4	38016364	38016367	CATG	C	TBC1D1	c.653_655del	NM_001396959.1	NP_001383888.1:p.(His218_Ala219delinsPro)	NC_000004.11:g.38016365_38016367del	(Likely) benign	1 lab	bf49860803
2:179438273 TTN G>A	2	179438273	179438273	G	A	TTN	c.72586C>T	NM_001267550.2	NP_001254479.2:p.(Arg24196Cys)	NC_000002.11:g.179438273G>A	VUS	1 lab	bf49efcd2b
X:24382400 SUPT20HL1 C>CTAT	X	24382400	24382402	C	CTAT	SUPT20HL1	c.1524_1525insATT	NM_001136234.3	NP_001129706.3:p.(Ala508_Ala509insIle)	NC_000023.10:g.24382401_24382402insATT	VUS	1 lab	bf4a93521a
7:156802881 MNX1 C>G	7	156802881	156802881	C	G	MNX1	c.164G>C	NM_005515.4	NP_005506.3:p.(Ser55Thr)	NC_000007.13:g.156802881C>G	VUS	1 lab	bf4aa7530f
6:143080947 HIVEP2 G>C	6	143080947	143080947	G	C	HIVEP2	c.6478C>G	NM_006734.4	NP_006725.3:p.(Gln2160Glu)	NC_000006.11:g.143080947G>C	VUS	1 lab	bf4caf38d8
2:175618961 CHRNA1 C>G	2	175618961	175618961	C	G	CHRNA1	c.526G>C	NM_000079.4	NP_000070.1:p.(Val176Leu)	NC_000002.11:g.175618961C>G	VUS	1 lab	bf4e6e2a48
X:41446204 CASK C>T	X	41446204	41446204	C	T	CASK	c.1270G>A	NM_001367721.1	NP_001354650.1:p.(Asp424Asn)	NC_000023.10:g.41446204C>T	VUS	1 lab	bf4f1ed9c5
15:42981841 STARD9 A>C	15	42981841	42981841	A	C	STARD9	c.8065A>C	NM_020759.3	NP_065810.2:p.(Ser2689Arg)	NC_000015.9:g.42981841A>C	(Likely) benign	1 lab	bf4f74570a
6:165895837 PDE10A GA>G	6	165895837	165895838	GA	G	PDE10A	c.995-7del	NM_001385079.1	NP_001372008.1:p.?	NC_000006.11:g.165895838del	(Likely) benign	1 lab	bf50520ffe
9:27060647 IFT74 A>G	9	27060647	27060647	A	G	IFT74	c.1682A>G	NM_025103.4	NP_079379.2:p.(Glu561Gly)	NC_000009.11:g.27060647A>G	VUS	1 lab	bf508dad9f
6:152734638 SYNE1 C>T	6	152734638	152734638	C	T	SYNE1	c.6079G>A	NM_182961.4	NP_892006.3:p.(Glu2027Lys)	NC_000006.11:g.152734638C>T	(Likely) benign	1 lab	bf50a4173b
7:47898489 PKD1L1 T>C	7	47898489	47898489	T	C	PKD1L1	c.4150-6A>G	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47898489T>C	(Likely) benign	1 lab	bf50b2fcb3
1:1453133 ATAD3A A>G	1	1453133	1453133	A	G	ATAD3A	c.422A>G	NM_001170535.3	NP_001164006.1:p.(Tyr141Cys)	NC_000001.10:g.1453133A>G	VUS	1 lab	bf510a49ec
2:73829423 ALMS1 C>T	2	73829423	73829423	C	T	ALMS1	c.12226C>T	NM_001378454.1	NP_001365383.1:p.(Arg4076Trp)	NC_000002.11:g.73829423C>T	VUS	1 lab	bf517aafc4
12:69042475 RAP1B T>G	12	69042475	69042475	T	G	RAP1B	c.-26-4T>G	NM_001010942.3	NP_001010942.1:p.?	NC_000012.11:g.69042475T>G	VUS	1 lab	bf52a04e05
14:99641218 BCL11B TTGACCGCGCCGCCCGCGCCCGC>T	14	99641218	99641240	TTGACCGCGCCGCCCGCGCCCGC	T	BCL11B	c.1933_1954del	NM_138576.4	NP_612808.1:p.(Ala645ThrfsTer71)	NC_000014.8:g.99641219_99641240del	(Likely) pathogenic	1 lab	bf54f0a93e
14:20848461 TEP1 G>A	14	20848461	20848461	G	A	TEP1	c.4936C>T	NM_007110.5	NP_009041.2:p.(Arg1646Trp)	NC_000014.8:g.20848461G>A	(Likely) benign	1 lab	bf5511658c
17:4925481 KIF1C C>T	17	4925481	4925481	C	T	KIF1C	c.2105C>T	NM_006612.6	NP_006603.2:p.(Thr702Ile)	NC_000017.10:g.4925481C>T	(Likely) benign	1 lab	bf574cfe9e
11:17482231 ABCC8 G>A	11	17482231	17482231	G	A	ABCC8	c.823-8C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17482231G>A	(Likely) benign	1 lab	bf574f431f
10:50959892 OGDHL G>A	10	50959892	50959892	G	A	OGDHL	c.730C>T	NM_018245.3	NP_060715.2:p.(Arg244Trp)	NC_000010.10:g.50959892G>A	VUS	1 lab	bf57e9b5ab
1:201178950 IGFN1 G>T	1	201178950	201178950	G	T	IGFN1	c.4929G>T	NM_001164586.2	NP_001158058.1:p.(Gly1643=)	NC_000001.10:g.201178950G>T	(Likely) benign	1 lab	bf59043fe8
19:18709352 CRLF1 T>A	19	18709352	18709352	T	A	CRLF1	c.587A>T	NM_004750.5	NP_004741.1:p.(His196Leu)	NC_000019.9:g.18709352T>A	VUS	1 lab	bf9f9dd9c0
9:139728381 RABL6 C>G	9	139728381	139728381	C	G	RABL6	c.705+1559C>G	NM_024718.5	NP_078994.3:p.?	NC_000009.11:g.139728381C>G	(Likely) benign	1 lab	bf5964d544
21:47838209 PCNT G>A	21	47838209	47838209	G	A	PCNT	c.7013G>A	NM_006031.6	NP_006022.3:p.(Arg2338Lys)	NC_000021.8:g.47838209G>A	(Likely) benign	1 lab	bf59781156
16:2817326 SRRM2 C>T	16	2817326	2817326	C	T	SRRM2	c.6797C>T	NM_016333.4	NP_057417.3:p.(Ala2266Val)	NC_000016.9:g.2817326C>T	VUS	1 lab	bf5b6ee7d6
17:45361815 ITGB3 C>T	17	45361815	45361815	C	T	ITGB3	c.368C>T	NM_000212.3	NP_000203.2:p.(Ser123Leu)	NC_000017.10:g.45361815C>T	VUS	1 lab	bf5bbce149
11:2185608 TH C>T	11	2185608	2185608	C	T	TH	c.1349G>A	NM_000360.4	NP_000351.2:p.(Arg450His)	NC_000011.9:g.2185608C>T	VUS	1 lab	bf5bfed3a6
8:19362707 CSGALNACT1 C>G	8	19362707	19362707	C	G	CSGALNACT1	c.634+5G>C	NM_001354483.2	NP_001341412.1:p.?	NC_000008.10:g.19362707C>G	(Likely) benign	1 lab	bf5dedae4c
1:45798418 MUTYH T>C	1	45798418	45798418	T	C	MUTYH	c.492+17A>G	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45798418T>C	(Likely) benign	1 lab	bf5f111be0
3:111805288 C3orf52 G>C	3	111805288	111805288	G	C	C3orf52	c.34G>C	NM_024616.3	NP_078892.3:p.(Glu12Gln)	NC_000003.11:g.111805288G>C	VUS	1 lab	bf6236bd46
X:135767930 ARHGEF6 G>T	X	135767930	135767930	G	T	ARHGEF6	c.1298C>A	NM_004840.3	NP_004831.1:p.(Ser433Tyr)	NC_000023.10:g.135767930G>T	VUS	1 lab	bf6323bd9f
X:65253405 VSIG4 C>T	X	65253405	65253405	C	T	VSIG4	c.323G>A	NM_007268.3	NP_009199.1:p.(Arg108Gln)	NC_000023.10:g.65253405C>T	(Likely) benign	1 lab	bf63b77e0d
X:70355083 MED12 G>A	X	70355083	70355083	G	A	MED12	c.5005G>A	NM_005120.3	NP_005111.2:p.(Asp1669Asn)	NC_000023.10:g.70355083G>A	VUS	1 lab	2a217a353d
21:39671856 KCNJ15 G>T	21	39671856	39671856	G	T	KCNJ15	c.673G>T	NM_170736.3	NP_733932.1:p.(Gly225Trp)	NC_000021.8:g.39671856G>T	VUS	1 lab	bf65490ae7
21:27347498 APP T>C	21	27347498	27347498	T	C	APP	c.1343A>G	NM_000484.4	NP_000475.1:p.(Asn448Ser)	NC_000021.8:g.27347498T>C	VUS	1 lab	bf66345e65
3:130718451 ATP2C1 T>G	3	130718451	130718451	T	G	ATP2C1	c.2577T>G	NM_001378687.1	NP_001365616.1:p.(Ile859Met)	NC_000003.11:g.130718451T>G	VUS	1 lab	bf68c2dd80
15:84651915 ADAMTSL3 C>G	15	84651915	84651915	C	G	ADAMTSL3	c.3535C>G	NM_207517.3	NP_997400.2:p.(Leu1179Val)	NC_000015.9:g.84651915C>G	(Likely) benign	1 lab	bf69cf0246
11:6424870 APBB1 G>C	11	6424870	6424870	G	C	APBB1	c.897+7C>G	NM_001164.5	NP_001155.1:p.?	NC_000011.9:g.6424870G>C	(Likely) benign	1 lab	bf6a2ef409
19:39025834 RYR1 A>C	19	39025834	39025834	A	C	RYR1	c.11413A>C	NM_000540.3	NP_000531.2:p.(Asn3805His)	NC_000019.9:g.39025834A>C	VUS	1 lab	bf6b157cdb
1:110168275 AMPD2 T>TC	1	110168275	110168281	T	TC	AMPD2	c.223-3dup	NM_001368809.2	NP_001355738.1:p.?	NC_000001.10:g.110168281dup	(Likely) benign	1 lab	bf6b1594d4
19:42795493 CIC C>A	19	42795493	42795493	C	A	CIC	c.5300C>A	NM_001386298.1	NP_001373227.1:p.(Pro1767His)	NC_000019.9:g.42795493C>A	(Likely) benign	1 lab	bf6b7fec7f
6:51613425 PKHD1 C>A	6	51613425	51613425	C	A	PKHD1	c.8989G>T	NM_138694.4	NP_619639.3:p.(Gly2997Trp)	NC_000006.11:g.51613425C>A	VUS	1 lab	bf6bad0895
15:63927085 HERC1 C>A	15	63927085	63927085	C	A	HERC1	c.12417G>T	NM_003922.4	NP_003913.3:p.(Met4139Ile)	NC_000015.9:g.63927085C>A	VUS	1 lab	bf6c5e9e74
21:47532066 COL6A2 G>A	21	47532066	47532066	G	A	COL6A2	c.289G>A	NM_001849.4	NP_001840.3:p.(Gly97Ser)	NC_000021.8:g.47532066G>A	VUS	1 lab	bf6c83ecf7
11:108188101 ATM C>A	11	108188101	108188101	C	A	ATM	c.6200C>A	NM_000051.4	NP_000042.3:p.(Ala2067Asp)	NC_000011.9:g.108188101C>A	(Likely) pathogenic	1 lab	2a25d1809e
16:2161032 PKD1 T>C	16	2161032	2161032	T	C	PKD1	c.4136A>G	NM_001009944.3	NP_001009944.3:p.(Glu1379Gly)	NC_000016.9:g.2161032T>C	(Likely) pathogenic	1 lab	bf6f9e7333
15:90631637 IDH2 T>C	15	90631637	90631637	T	C	IDH2	c.632A>G	NM_002168.4	NP_002159.2:p.(Asn211Ser)	NC_000015.9:g.90631637T>C	(Likely) benign	1 lab	bf70a96b16
3:49462410 NICN1 T>C	3	49462410	49462410	T	C	NICN1	c.572A>G	NM_032316.3	NP_115692.1:p.(His191Arg)	NC_000003.11:g.49462410T>C	(Likely) benign	1 lab	bf70c0a585
12:401960 KDM5A C>T	12	401960	401960	C	T	KDM5A	c.4831G>A	NM_001042603.3	NP_001036068.1:p.(Ala1611Thr)	NC_000012.11:g.401960C>T	(Likely) benign	1 lab	bf70e58b99
9:135946665 CEL C>CT	9	135946665	135946666	C	CT	CEL	c.1776_1777insT	NM_001807.6	NP_001798.3:p.(Val593CysfsTer6)	NC_000009.11:g.135946665_135946666insT	VUS	1 lab	bf714d3bf2
16:28493460 CLN3 C>A	16	28493460	28493460	C	A	CLN3	c.1022G>T	NM_001042432.2	NP_001035897.1:p.(Arg341Leu)	NC_000016.9:g.28493460C>A	(Likely) benign	1 lab	bf71dc4df6
19:46056885 OPA3 C>CCGCCTGCACCTG	19	46056885	46056905	C	CCGCCTGCACCTG	OPA3	c.415_426dup	NM_025136.4	NP_079412.1:p.(Gln139_Ala142dup)	NC_000019.9:g.46056894_46056905dup	VUS	1 lab	bf725f041c
16:731537 STUB1 G>A	16	731537	731537	G	A	STUB1	c.458G>A	NM_005861.4	NP_005852.2:p.(Arg153Gln)	NC_000016.9:g.731537G>A	(Likely) benign	1 lab	bf73450308
5:172750441 STC2 C>G	5	172750441	172750441	C	G	STC2	c.295-8G>C	NM_003714.3	NP_003705.1:p.?	NC_000005.9:g.172750441C>G	VUS	1 lab	bf7625acb2
17:38786994 SMARCE1 TTTC>T	17	38786994	38787001	TTTC	T	SMARCE1	c.996_998del	NM_003079.5	NP_003070.3:p.(Lys333del)	NC_000017.10:g.38786999_38787001del	VUS	1 lab	2a277cb5ed
8:17941494 ASAH1 GGCGCGTGCT>G	8	17941494	17941508	GGCGCGTGCT	G	ASAH1	c.65_73del	NM_177924.5	NP_808592.2:p.(Gln22_Ala24del)	NC_000008.10:g.17941500_17941508del	VUS	1 lab	bf7990bf01
22:43287153 PACSIN2 C>T	22	43287153	43287153	C	T	PACSIN2	c.253G>A	NM_001184970.3	NP_001171899.1:p.(Ala85Thr)	NC_000022.10:g.43287153C>T	(Likely) benign	1 lab	bf7b7a56a3
1:111494471 LRIF1 C>T	1	111494471	111494471	C	T	LRIF1	c.1035G>A	NM_018372.4	NP_060842.3:p.(Thr345=)	NC_000001.10:g.111494471C>T	(Likely) benign	1 lab	bf7c74bfb1
18:19032100 GREB1L G>C	18	19032100	19032100	G	C	GREB1L	c.1906G>C	NM_001142966.3	NP_001136438.1:p.(Val636Leu)	NC_000018.9:g.19032100G>C	(Likely) benign	1 lab	bf7cdaea1c
12:133303841 ANKLE2 A>C	12	133303841	133303841	A	C	ANKLE2	c.2804T>G	NM_015114.3	NP_055929.1:p.(Leu935Arg)	NC_000012.11:g.133303841A>C	(Likely) benign	1 lab	bf7e582c39
16:68716245 CDH3 T>C	16	68716245	68716245	T	C	CDH3	c.1037T>C	NM_001793.6	NP_001784.2:p.(Val346Ala)	NC_000016.9:g.68716245T>C	VUS	1 lab	bf7e59d900
X:13612990 EGFL6 G>A	X	13612990	13612990	G	A	EGFL6	c.223G>A	NM_015507.4	NP_056322.2:p.(Val75Met)	NC_000023.10:g.13612990G>A	(Likely) benign	1 lab	bf7eeacc61
10:127540925 DHX32 C>G	10	127540925	127540925	C	G	DHX32	c.1288G>C	NM_018180.3	NP_060650.2:p.(Val430Leu)	NC_000010.10:g.127540925C>G	VUS	1 lab	bf7f9abac0
2:189873654 COL3A1 C>T	2	189873654	189873654	C	T	COL3A1	c.3530C>T	NM_000090.4	NP_000081.2:p.(Ser1177Phe)	NC_000002.11:g.189873654C>T	VUS	1 lab	bf81a4b396
12:121881940 KDM2B G>A	12	121881940	121881940	G	A	KDM2B	c.2326C>T	NM_032590.5	NP_115979.3:p.(Arg776Cys)	NC_000012.11:g.121881940G>A	(Likely) benign	1 lab	bf82579ec3
10:115618411 NHLRC2 T>A	10	115618411	115618411	T	A	NHLRC2	c.303T>A	NM_198514.4	NP_940916.2:p.(His101Gln)	NC_000010.10:g.115618411T>A	VUS	1 lab	bf84b23e81
17:80544081 FOXK2 G>GC	17	80544081	80544082	G	GC	FOXK2	c.1576+6dup	NM_004514.4	NP_004505.2:p.?	NC_000017.10:g.80544082dup	VUS	1 lab	bf84e3e6d9
6:80910652 BCKDHB G>A	6	80910652	80910652	G	A	BCKDHB	c.744G>A	NM_183050.4	NP_898871.1:p.(Ala248=)	NC_000006.11:g.80910652G>A	(Likely) benign	1 lab	bf84f3e64a
6:132172972 ENPP1 A>T	6	132172972	132172972	A	T	ENPP1	c.557-343A>T	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132172972A>T	VUS	1 lab	bf85956548
4:56841100 CEP135 C>T	4	56841100	56841100	C	T	CEP135	c.1438C>T	NM_025009.5	NP_079285.2:p.(Arg480Cys)	NC_000004.11:g.56841100C>T	VUS	1 lab	bf866048b6
17:16216857 PIGL AC>A	17	16216857	16216858	AC	A	PIGL	c.427-3del	NM_004278.4	NP_004269.1:p.?	NC_000017.10:g.16216858del	(Likely) benign	1 lab	bf86bdd666
19:39964905 SUPT5H GC>G	19	39964905	39964910	GC	G	SUPT5H	c.2688del	NM_001111020.3	NP_001104490.1:p.(Ser897ProfsTer57)	NC_000019.9:g.39964910del	(Likely) pathogenic	1 lab	bf87a7714e
20:4158054 SMOX A>G	20	4158054	4158054	A	G	SMOX	c.265A>G	NM_175839.3	NP_787033.1:p.(Ile89Val)	NC_000020.10:g.4158054A>G	(Likely) benign	1 lab	bf87aeb622
16:89577046 SPG7 C>T	16	89577046	89577046	C	T	SPG7	c.286+46C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89577046C>T	(Likely) benign	1 lab	3375636ce6
5:127419802 SLC12A2 C>G	5	127419802	127419802	C	G	SLC12A2	c.156C>G	NM_001046.3	NP_001037.1:p.(Asp52Glu)	NC_000005.9:g.127419802C>G	VUS	1 lab	bf8c4edf3b
17:26861409 FOXN1 G>A	17	26861409	26861409	G	A	FOXN1	c.988G>A	NM_001369369.1	NP_001356298.1:p.(Glu330Lys)	NC_000017.10:g.26861409G>A	VUS	1 lab	bf8dc4bf26
16:89350747 ANKRD11 CT>C	16	89350747	89350749	CT	C	ANKRD11	c.2202del	NM_013275.6	NP_037407.4:p.(Glu735ArgfsTer14)	NC_000016.9:g.89350749del	(Likely) pathogenic	1 lab	bf8dd7d1d8
9:35806184 NPR2 C>T	9	35806184	35806184	C	T	NPR2	c.2326C>T	NM_003995.4	NP_003986.2:p.(Arg776Trp)	NC_000009.11:g.35806184C>T	(Likely) pathogenic	1 lab	bf91df2ddc
X:100402757 CENPI G>A	X	100402757	100402757	G	A	CENPI	c.1832G>A	NM_001386188.2	NP_001373117.1:p.(Arg611His)	NC_000023.10:g.100402757G>A	VUS	1 lab	bf92fa5d0f
11:66618382 PC G>T	11	66618382	66618382	G	T	PC	c.2236C>A	NM_001040716.2	NP_001035806.1:p.(Leu746Met)	NC_000011.9:g.66618382G>T	VUS	1 lab	bf941728e3
X:23019575 DDX53 C>G	X	23019575	23019575	C	G	DDX53	c.1401C>G	NM_182699.4	NP_874358.2:p.(Asn467Lys)	NC_000023.10:g.23019575C>G	VUS	1 lab	bf950d5c3d
12:112915828 PTPN11 C>T	12	112915828	112915828	C	T	PTPN11	c.1092+9C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112915828C>T	(Likely) benign	1 lab	bf9871e774
12:4488661 FGF23 G>A	12	4488661	4488661	G	A	FGF23	c.88C>T	NM_020638.3	NP_065689.1:p.(Pro30Ser)	NC_000012.11:g.4488661G>A	VUS	1 lab	bf990a59a1
15:23086303 NIPA1 C>T	15	23086303	23086303	C	T	NIPA1	c.109G>A	NM_144599.5	NP_653200.2:p.(Val37Met)	NC_000015.9:g.23086303C>T	(Likely) benign	1 lab	bf99b2a6fc
X:46513038 SLC9A7 A>T	X	46513038	46513038	A	T	SLC9A7	c.1147+6T>A	NM_001257291.2	NP_001244220.1:p.?	NC_000023.10:g.46513038A>T	(Likely) benign	1 lab	bf9a6bc9e8
14:77753174 POMT2 T>C	14	77753174	77753174	T	C	POMT2	c.1254-9A>G	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77753174T>C	(Likely) benign	1 lab	bf9bf5e0c4
8:61693570 CHD7 G>A	8	61693570	61693570	G	A	CHD7	c.1677G>A	NM_017780.4	NP_060250.2:p.(Ser559=)	NC_000008.10:g.61693570G>A	VUS	1 lab	bf9e71f911
9:140865895 CACNA1B G>A	9	140865895	140865895	G	A	CACNA1B	c.1394G>A	NM_000718.4	NP_000709.1:p.(Arg465Gln)	NC_000009.11:g.140865895G>A	VUS	1 lab	bfa1059c03
1:152085253 TCHH T>G	1	152085253	152085253	T	G	TCHH	c.440A>C	NM_007113.4	NP_009044.2:p.(Glu147Ala)	NC_000001.10:g.152085253T>G	(Likely) benign	1 lab	bfa23b1b95
19:42854432 MEGF8 G>A	19	42854432	42854432	G	A	MEGF8	c.2632G>A	NM_001271938.2	NP_001258867.1:p.(Gly878Arg)	NC_000019.9:g.42854432G>A	(Likely) benign	1 lab	bfa335c8db
13:111132699 COL4A2 A>C	13	111132699	111132699	A	C	COL4A2	c.2720A>C	NM_001846.4	NP_001837.2:p.(Lys907Thr)	NC_000013.10:g.111132699A>C	(Likely) benign	1 lab	bfa4f6a133
10:61835714 ANK3 G>A	10	61835714	61835714	G	A	ANK3	c.4925C>T	NM_020987.5	NP_066267.2:p.(Thr1642Ile)	NC_000010.10:g.61835714G>A	(Likely) benign	1 lab	bfa597acf0
19:35651662 FXYD5 C>T	19	35651662	35651662	C	T	FXYD5	c.250C>T	NM_014164.6	NP_054883.3:p.(Pro84Ser)	NC_000019.9:g.35651662C>T	(Likely) benign	1 lab	bfa5e7a0e2
4:155507118 FGA C>T	4	155507118	155507118	C	T	FGA	c.1463G>A	NM_021871.4	NP_068657.1:p.(Gly488Asp)	NC_000004.11:g.155507118C>T	VUS	1 lab	bfa71cb965
20:61453515 COL9A3 C>T	20	61453515	61453515	C	T	COL9A3	c.476C>T	NM_001853.4	NP_001844.3:p.(Pro159Leu)	NC_000020.10:g.61453515C>T	VUS	1 lab	bfa79da922
7:794456 DNAAF5 A>G	7	794456	794456	A	G	DNAAF5	c.1255A>G	NM_017802.4	NP_060272.3:p.(Ser419Gly)	NC_000007.13:g.794456A>G	VUS	1 lab	bfa8435ebe
5:176668237 NSD1 C>G	5	176668237	176668237	C	G	NSD1	c.4302+1371C>G	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176668237C>G	(Likely) benign	1 lab	bfad310e9d
X:39931786 BCOR G>A	X	39931786	39931786	G	A	BCOR	c.2813C>T	NM_001123385.2	NP_001116857.1:p.(Thr938Ile)	NC_000023.10:g.39931786G>A	(Likely) benign	1 lab	bfae75e8b9
X:77266696 ATP7A G>C	X	77266696	77266696	G	C	ATP7A	c.1893G>C	NM_000052.7	NP_000043.4:p.(Leu631Phe)	NC_000023.10:g.77266696G>C	(Likely) benign	1 lab	bfaea6e2b7
6:32809965 PSMB8 C>T	6	32809965	32809965	C	T	PSMB8	c.471G>A	NM_004159.5	NP_004150.1:p.(Gln157=)	NC_000006.11:g.32809965C>T	(Likely) benign	1 lab	2c0b4999fd
1:55337283 DHCR24 C>T	1	55337283	55337283	C	T	DHCR24	c.616G>A	NM_014762.4	NP_055577.1:p.(Glu206Lys)	NC_000001.10:g.55337283C>T	VUS	1 lab	bfb00548ee
2:152490449 NEB G>A	2	152490449	152490449	G	A	NEB	c.9133C>T	NM_001164508.2	NP_001157980.2:p.(Leu3045Phe)	NC_000002.11:g.152490449G>A	(Likely) benign	1 lab	bfb191102c
9:20986265 FOCAD A>ATTTTTTTTTTTTTTTTTTTTTTTTTT	9	20986265	20986283	A	ATTTTTTTTTTTTTTTTTTTTTTTTTT	FOCAD	c.4729-5_4729-4insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20986282_20986283insTTTTTTTTTTTTTTTTTTTTTTTTTT	VUS	1 lab	bfb22af822
8:144891896 SCRIB G>A	8	144891896	144891896	G	A	SCRIB	c.1531-8C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144891896G>A	(Likely) benign	1 lab	bfb2c5add6
7:156802451 MNX1 G>GGCGGGGTGC	7	156802451	156802472	G	GGCGGGGTGC	MNX1	c.585_593dup	NM_005515.4	NP_005506.3:p.(His196_Ala198dup)	NC_000007.13:g.156802464_156802472dup	VUS	1 lab	bfb379a404
3:123385167 MYLK G>C	3	123385167	123385167	G	C	MYLK	c.3730C>G	NM_053025.4	NP_444253.3:p.(Pro1244Ala)	NC_000003.11:g.123385167G>C	VUS	1 lab	bfb3d5fafd
16:79633397 MAF C>G	16	79633397	79633397	C	G	MAF	c.403G>C	NM_005360.5	NP_005351.2:p.(Ala135Pro)	NC_000016.9:g.79633397C>G	(Likely) benign	1 lab	bfb3f2aaa4
8:105503469 LRP12 ACC>A	8	105503469	105503473	ACC	A	LRP12	c.2010_2011del	NM_013437.5	NP_038465.1:p.(Val671CysfsTer36)	NC_000008.10:g.105503472_105503473del	VUS	1 lab	bfb449af93
10:28897276 WAC A>C	10	28897276	28897276	A	C	WAC	c.1081A>C	NM_016628.5	NP_057712.2:p.(Asn361His)	NC_000010.10:g.28897276A>C	(Likely) benign	1 lab	bfb734d093
3:46943283 PTH1R G>A	3	46943283	46943283	G	A	PTH1R	c.1144G>A	NM_000316.3	NP_000307.1:p.(Val382Ile)	NC_000003.11:g.46943283G>A	VUS	1 lab	bfb7df2fc7
20:43052754 HNF4A C>G	20	43052754	43052754	C	G	HNF4A	c.989C>G	NM_000457.5	NP_000448.3:p.(Ser330Trp)	NC_000020.10:g.43052754C>G	(Likely) pathogenic	1 lab	bfb807f18d
10:61802509 ANK3 T>A	10	61802509	61802509	T	A	ANK3	c.13074A>T	NM_020987.5	NP_066267.2:p.(Glu4358Asp)	NC_000010.10:g.61802509T>A	VUS	1 lab	bfb8252c29
9:33385187 AQP7 C>T	9	33385187	33385187	C	T	AQP7	c.845G>A	NM_001170.3	NP_001161.1:p.(Arg282Gln)	NC_000009.11:g.33385187C>T	VUS	1 lab	bfbaf8bad0
19:7184544 INSR C>T	19	7184544	7184544	C	T	INSR	c.757G>A	NM_000208.4	NP_000199.2:p.(Val253Met)	NC_000019.9:g.7184544C>T	(Likely) benign	1 lab	bfbb927e4c
8:61736581 CHD7 T>G	8	61736581	61736581	T	G	CHD7	c.3378+6T>G	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61736581T>G	VUS	1 lab	bfbbe77a06
1:3764068 CEP104 G>A	1	3764068	3764068	G	A	CEP104	c.397C>T	NM_014704.4	NP_055519.1:p.(His133Tyr)	NC_000001.10:g.3764068G>A	VUS	1 lab	bfbc062693
2:48718179 PPP1R21 A>G	2	48718179	48718179	A	G	PPP1R21	c.1469A>G	NM_001135629.3	NP_001129101.1:p.(Asn490Ser)	NC_000002.11:g.48718179A>G	VUS	1 lab	bfbc21943c
X:84502545 ZNF711 T>A	X	84502545	84502545	T	A	ZNF711	c.-26-8T>A	NM_001330574.2	NP_001317503.1:p.?	NC_000023.10:g.84502545T>A	(Likely) benign	1 lab	bfbdff5a41
11:803537 PIDD1 T>G	11	803537	803537	T	G	PIDD1	c.346A>C	NM_145886.4	NP_665893.2:p.(Asn116His)	NC_000011.9:g.803537T>G	(Likely) benign	1 lab	bfbe1ed7d2
18:13057742 CEP192 T>C	18	13057742	13057742	T	C	CEP192	c.4257+10T>C	NM_032142.4	NP_115518.3:p.?	NC_000018.9:g.13057742T>C	VUS	1 lab	bfbe6bd580
15:91454200 MAN2A2 C>A	15	91454200	91454200	C	A	MAN2A2	c.1875+9C>A	NM_006122.4	NP_006113.2:p.?	NC_000015.9:g.91454200C>A	(Likely) benign	1 lab	bfbf327a88
16:1816086 MAPK8IP3 G>A	16	1816086	1816086	G	A	MAPK8IP3	c.2572G>A	NM_001318852.2	NP_001305781.1:p.(Val858Met)	NC_000016.9:g.1816086G>A	(Likely) benign	1 lab	bfc05bc99d
3:25542706 RARB A>T	3	25542706	25542706	A	T	RARB	c.340A>T	NM_000965.5	NP_000956.2:p.(Ile114Phe)	NC_000003.11:g.25542706A>T	VUS	1 lab	bfc2af21fd
22:45914571 FBLN1 A>G	22	45914571	45914571	A	G	FBLN1	c.89A>G	NM_006486.3	NP_006477.3:p.(Asp30Gly)	NC_000022.10:g.45914571A>G	VUS	1 lab	bfc4435975
21:47786584 PCNT C>T	21	47786584	47786584	C	T	PCNT	c.2695C>T	NM_006031.6	NP_006022.3:p.(Arg899Cys)	NC_000021.8:g.47786584C>T	(Likely) benign	1 lab	bfc6d2084e
X:152845645 ATP2B3 C>T	X	152845645	152845645	C	T	ATP2B3	c.3552C>T	NM_001001344.3	NP_001001344.1:p.(Asn1184=)	NC_000023.10:g.152845645C>T	(Likely) benign	1 lab	bfcab0d20b
15:42363998 PLA2G4D G>A	15	42363998	42363998	G	A	PLA2G4D	c.1547C>T	NM_178034.4	NP_828848.3:p.(Pro516Leu)	NC_000015.9:g.42363998G>A	(Likely) benign	1 lab	bfcc46634c
16:2138231 TSC2 G>A	16	2138231	2138231	G	A	TSC2	c.5164G>A	NM_000548.5	NP_000539.2:p.(Ala1722Thr)	NC_000016.9:g.2138231G>A	VUS	1 lab	bfcd91e355
1:27091635 ARID1A G>A	1	27091635	27091635	G	A	ARID1A	c.2733-1077G>A	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27091635G>A	(Likely) benign	1 lab	bfcfd14d1d
3:128628895 CFAP92 G>A	3	128628895	128628895	G	A	CFAP92	c.*247C>T	NM_001394090.1	NP_001381019.1:p.?	NC_000003.11:g.128628895G>A	(Likely) pathogenic	1 lab	bfcfeff31c
14:51382183 PYGL C>T	14	51382183	51382183	C	T	PYGL	c.1274G>A	NM_002863.5	NP_002854.3:p.(Arg425His)	NC_000014.8:g.51382183C>T	VUS	1 lab	bfd0643add
1:79115914 IFI44 G>A	1	79115914	79115914	G	A	IFI44	c.34G>A	NM_006417.5	NP_006408.3:p.(Glu12Lys)	NC_000001.10:g.79115914G>A	(Likely) benign	1 lab	bfd07fed34
1:155450029 ASH1L T>C	1	155450029	155450029	T	C	ASH1L	c.2632A>G	NM_018489.3	NP_060959.2:p.(Lys878Glu)	NC_000001.10:g.155450029T>C	VUS	1 lab	bfd105aaed
17:48703675 CACNA1G G>A	17	48703675	48703675	G	A	CACNA1G	c.6697G>A	NM_018896.5	NP_061496.2:p.(Gly2233Ser)	NC_000017.10:g.48703675G>A	(Likely) benign	1 lab	2c0df269b7
20:62321665 RTEL1 C>T	20	62321665	62321665	C	T	RTEL1	c.2284C>T	NM_001283009.2	NP_001269938.1:p.(Arg762Trp)	NC_000020.10:g.62321665C>T	(Likely) benign	1 lab	2a2b9139eb
19:619220 POLRMT C>T	19	619220	619220	C	T	POLRMT	c.3143G>A	NM_005035.4	NP_005026.3:p.(Arg1048Gln)	NC_000019.9:g.619220C>T	VUS	1 lab	bfd5754145
2:135028089 MGAT5 G>C	2	135028089	135028089	G	C	MGAT5	c.374G>C	NM_002410.5	NP_002401.1:p.(Ser125Thr)	NC_000002.11:g.135028089G>C	VUS	1 lab	bfd805d982
8:100796545 VPS13B C>G	8	100796545	100796545	C	G	VPS13B	c.7782C>G	NM_152564.5	NP_689777.3:p.(Asn2594Lys)	NC_000008.10:g.100796545C>G	(Likely) benign	1 lab	bfd9d4d403
16:70866845 HYDIN C>A	16	70866845	70866845	C	A	HYDIN	c.13805G>T	NM_001270974.2	NP_001257903.1:p.(Ser4602Ile)	NC_000016.9:g.70866845C>A	(Likely) benign	1 lab	bfda027b01
2:50779731 NRXN1 G>A	2	50779731	50779731	G	A	NRXN1	c.1753C>T	NM_001330078.2	NP_001317007.1:p.(Arg585Trp)	NC_000002.11:g.50779731G>A	VUS	1 lab	bfdae2be60
12:47163218 SLC38A4 CA>C	12	47163218	47163220	CA	C	SLC38A4	c.1300-8del	NM_018018.5	NP_060488.2:p.?	NC_000012.11:g.47163220del	(Likely) benign	1 lab	bfdbc768da
Y:6932049 TBL1Y C>G	Y	6932049	6932049	C	G	TBL1Y	c.316C>G	NM_033284.2	NP_150600.1:p.(Gln106Glu)	NC_000024.9:g.6932049C>G	VUS	1 lab	bfdcfbac03
14:58927783 KIAA0586 A>G	14	58927783	58927783	A	G	KIAA0586	c.1964A>G	NM_001329943.3	NP_001316872.1:p.(His655Arg)	NC_000014.8:g.58927783A>G	VUS	1 lab	bfdd055ff7
12:42862585 PRICKLE1 C>T	12	42862585	42862585	C	T	PRICKLE1	c.431G>A	NM_153026.3	NP_694571.2:p.(Arg144His)	NC_000012.11:g.42862585C>T	VUS	1 lab	bfde212939
7:139611124 TBXAS1 C>T	7	139611124	139611124	C	T	TBXAS1	c.333+4C>T	NM_001061.7	NP_001052.3:p.?	NC_000007.13:g.139611124C>T	(Likely) benign	1 lab	bfdf74e6cf
9:95043019 IARS1 C>T	9	95043019	95043019	C	T	IARS1	c.745+9G>A	NM_002161.6	NP_002152.2:p.?	NC_000009.11:g.95043019C>T	(Likely) benign	1 lab	bfe0842d1b
2:241725893 KIF1A T>A	2	241725893	241725893	T	A	KIF1A	c.467A>T	NM_001244008.2	NP_001230937.1:p.(Asp156Val)	NC_000002.11:g.241725893T>A	(Likely) pathogenic	1 lab	bfe213d617
17:18202944 TOP3A G>A	17	18202944	18202944	G	A	TOP3A	c.919C>T	NM_004618.5	NP_004609.1:p.(Pro307Ser)	NC_000017.10:g.18202944G>A	VUS	1 lab	bfe350725f
16:69194373 UTP4 T>C	16	69194373	69194373	T	C	UTP4	c.1551+8T>C	NM_032830.3	NP_116219.2:p.?	NC_000016.9:g.69194373T>C	(Likely) benign	1 lab	bfe3bc63d6
15:89398368 ACAN G>A	15	89398368	89398368	G	A	ACAN	c.2552G>A	NM_001369268.1	NP_001356197.1:p.(Trp851Ter)	NC_000015.9:g.89398368G>A	VUS	1 lab	bfe42ff992
17:7125561 ACADVL G>C	17	7125561	7125561	G	C	ACADVL	c.818G>C	NM_000018.4	NP_000009.1:p.(Gly273Ala)	NC_000017.10:g.7125561G>C	VUS	1 lab	bfe7e0a46a
8:97311998 PTDSS1 A>G	8	97311998	97311998	A	G	PTDSS1	c.677A>G	NM_014754.3	NP_055569.1:p.(Asn226Ser)	NC_000008.10:g.97311998A>G	VUS	1 lab	bfe9092e79
9:134397496 POMT1 C>T	9	134397496	134397496	C	T	POMT1	c.1888C>T	NM_001077365.2	NP_001070833.1:p.(Leu630Phe)	NC_000009.11:g.134397496C>T	VUS	1 lab	bfe9861957
X:17820079 RAI2 G>GAGGGGAGTCAGT	X	17820079	17820091	G	GAGGGGAGTCAGT	RAI2	c.40_51dup	NM_021785.6	NP_068557.4:p.(Thr14_Pro17dup)	NC_000023.10:g.17820080_17820091dup	VUS	1 lab	bfea9b3725
1:54204823 GLIS1 C>A	1	54204823	54204823	C	A	GLIS1	c.-88G>T	NM_001367484.1	NP_001354413.1:p.?	NC_000001.10:g.54204823C>A	VUS	1 lab	bfec546245
16:11217756 CLEC16A C>T	16	11217756	11217756	C	T	CLEC16A	c.2426C>T	NM_015226.3	NP_056041.1:p.(Ala809Val)	NC_000016.9:g.11217756C>T	VUS	1 lab	bfed116c89
14:35873753 NFKBIA C>T	14	35873753	35873753	C	T	NFKBIA	c.98G>A	NM_020529.3	NP_065390.1:p.(Gly33Asp)	NC_000014.8:g.35873753C>T	VUS	1 lab	2a2f65a7b3
17:4442817 MYBBP1A C>T	17	4442817	4442817	C	T	MYBBP1A	c.3880G>A	NM_014520.4	NP_055335.2:p.(Ala1294Thr)	NC_000017.10:g.4442817C>T	VUS	1 lab	bff18bf307
1:11855157 MTHFR G>C	1	11855157	11855157	G	C	MTHFR	c.1029C>G	NM_005957.5	NP_005948.3:p.(Pro343=)	NC_000001.10:g.11855157G>C	(Likely) benign	1 lab	bff1af2b01
1:22183676 HSPG2 T>C	1	22183676	22183676	T	C	HSPG2	c.5407A>G	NM_005529.7	NP_005520.4:p.(Thr1803Ala)	NC_000001.10:g.22183676T>C	VUS	1 lab	bff1b12769
12:121432115 HNF1A G>A	12	121432115	121432115	G	A	HNF1A	c.862G>A	NM_000545.8	NP_000536.6:p.(Gly288Arg)	NC_000012.11:g.121432115G>A	VUS	1 lab	bff20412a3
12:102154948 GNPTAB C>T	12	102154948	102154948	C	T	GNPTAB	c.3092G>A	NM_024312.5	NP_077288.2:p.(Arg1031Gln)	NC_000012.11:g.102154948C>T	VUS	1 lab	bff2e4932b
2:152521983 NEB A>G	2	152521983	152521983	A	G	NEB	c.5102T>C	NM_001164508.2	NP_001157980.2:p.(Val1701Ala)	NC_000002.11:g.152521983A>G	(Likely) benign	1 lab	bff322d103
8:104955109 RIMS2 C>G	8	104955109	104955109	C	G	RIMS2	c.2881C>G	NM_001348484.3	NP_001335413.1:p.(Pro961Ala)	NC_000008.10:g.104955109C>G	VUS	1 lab	bff40f0d60
11:65988694 PACS1 C>A	11	65988694	65988694	C	A	PACS1	c.1269C>A	NM_018026.4	NP_060496.2:p.(Ser423Arg)	NC_000011.9:g.65988694C>A	VUS	1 lab	bff6f480cd
14:51196378 NIN G>A	14	51196378	51196378	G	A	NIN	c.5941C>T	NM_020921.4	NP_065972.4:p.(Leu1981Phe)	NC_000014.8:g.51196378G>A	VUS	1 lab	bffad671c2
7:47930277 PKD1L1 A>T	7	47930277	47930277	A	T	PKD1L1	c.2538T>A	NM_138295.5	NP_612152.1:p.(Ala846=)	NC_000007.13:g.47930277A>T	(Likely) benign	1 lab	bffc7468ce
X:109445693 AMMECR1 C>T	X	109445693	109445693	C	T	AMMECR1	c.771G>A	NM_015365.3	NP_056180.1:p.(Pro257=)	NC_000023.10:g.109445693C>T	(Likely) benign	1 lab	2a32bc8579
7:47915748 PKD1L1 T>A	7	47915748	47915748	T	A	PKD1L1	c.3731A>T	NM_138295.5	NP_612152.1:p.(Asp1244Val)	NC_000007.13:g.47915748T>A	VUS	1 lab	2a37ee1002
X:6452493 VCX3A C>T	X	6452493	6452493	C	T	VCX3A	c.46G>A	NM_016379.4	NP_057463.2:p.(Glu16Lys)	NC_000023.10:g.6452493C>T	(Likely) benign	1 lab	bffeefe65c
20:31386366 DNMT3B C>T	20	31386366	31386366	C	T	DNMT3B	c.1591C>T	NM_006892.4	NP_008823.1:p.(Arg531Cys)	NC_000020.10:g.31386366C>T	VUS	1 lab	bfffe56d60
19:23159371 ZNF728 G>C	19	23159371	23159371	G	C	ZNF728	c.768C>G	NM_001267716.2	NP_001254645.1:p.(Tyr256Ter)	NC_000019.9:g.23159371G>C	VUS	1 lab	c000370e12
5:14358336 TRIO A>G	5	14358336	14358336	A	G	TRIO	c.2096A>G	NM_007118.4	NP_009049.2:p.(Tyr699Cys)	NC_000005.9:g.14358336A>G	VUS	1 lab	c00057e22c
17:41738814 MEOX1 T>C	17	41738814	41738814	T	C	MEOX1	c.89A>G	NM_004527.4	NP_004518.1:p.(Asn30Ser)	NC_000017.10:g.41738814T>C	(Likely) benign	1 lab	c0005e988a
X:152861558 CCNQ T>C	X	152861558	152861558	T	C	CCNQ	c.200A>G	NM_152274.5	NP_689487.2:p.(Tyr67Cys)	NC_000023.10:g.152861558T>C	(Likely) benign	1 lab	c002116c83
8:145741748 RECQL4 G>A	8	145741748	145741748	G	A	RECQL4	c.755C>T	NM_004260.4	NP_004251.4:p.(Pro252Leu)	NC_000008.10:g.145741748G>A	(Likely) benign	1 lab	c00290734f
2:49244665 FSHR G>A	2	49244665	49244665	G	A	FSHR	c.337C>T	NM_000145.4	NP_000136.2:p.(Pro113Ser)	NC_000002.11:g.49244665G>A	(Likely) benign	1 lab	c0047bb025
X:96171441 DIAPH2 G>T	X	96171441	96171441	G	T	DIAPH2	c.737G>T	NM_006729.5	NP_006720.1:p.(Gly246Val)	NC_000023.10:g.96171441G>T	(Likely) benign	1 lab	c0049c56b5
14:72152073 SIPA1L1 T>TA	14	72152073	72152075	T	TA	SIPA1L1	c.3105-4dup	NM_001386936.1	NP_001373865.1:p.?	NC_000014.8:g.72152075dup	(Likely) benign	1 lab	c0061250d3
12:14849181 GUCY2C G>A	12	14849181	14849181	G	A	GUCY2C	c.202C>T	NM_004963.4	NP_004954.2:p.(Arg68Cys)	NC_000012.11:g.14849181G>A	VUS	1 lab	c0067e903a
12:99139626 ANKS1B T>G	12	99139626	99139626	T	G	ANKS1B	c.3749A>C	NM_001352186.2	NP_001339115.1:p.(Gln1250Pro)	NC_000012.11:g.99139626T>G	(Likely) benign	1 lab	c00bb608a2
7:83643593 SEMA3A G>A	7	83643593	83643593	G	A	SEMA3A	c.742C>T	NM_006080.3	NP_006071.1:p.(Arg248Cys)	NC_000007.13:g.83643593G>A	VUS	1 lab	c00d8fa5aa
18:47379895 MYO5B G>A	18	47379895	47379895	G	A	MYO5B	c.4145C>T	NM_001080467.3	NP_001073936.1:p.(Thr1382Met)	NC_000018.9:g.47379895G>A	(Likely) benign	1 lab	c00f7bbd2d
7:92763625 SAMD9L C>T	7	92763625	92763625	C	T	SAMD9L	c.1660G>A	NM_152703.5	NP_689916.2:p.(Glu554Lys)	NC_000007.13:g.92763625C>T	(Likely) benign	1 lab	c0109d7031
22:28196068 MN1 T>G	22	28196068	28196068	T	G	MN1	c.464A>C	NM_002430.3	NP_002421.3:p.(His155Pro)	NC_000022.10:g.28196068T>G	(Likely) benign	1 lab	c011a456f1
14:23865952 MYH6 A>C	14	23865952	23865952	A	C	MYH6	c.2243T>G	NM_002471.4	NP_002462.2:p.(Leu748Arg)	NC_000014.8:g.23865952A>C	VUS	1 lab	c012bf8fd8
4:187525007 FAT1 T>A	4	187525007	187525007	T	A	FAT1	c.10673A>T	NM_005245.4	NP_005236.2:p.(Glu3558Val)	NC_000004.11:g.187525007T>A	VUS	1 lab	c01376dee4
15:48782180 FBN1 C>T	15	48782180	48782180	C	T	FBN1	c.2950G>A	NM_000138.5	NP_000129.3:p.(Val984Ile)	NC_000015.9:g.48782180C>T	VUS	1 lab	c017303d53
12:103695966 C12orf42 G>T	12	103695966	103695966	G	T	C12orf42	c.1003C>A	NM_198521.5	NP_940923.2:p.(Pro335Thr)	NC_000012.11:g.103695966G>T	VUS	1 lab	c017d4d1ad
2:69748007 AAK1 G>C	2	69748007	69748007	G	C	AAK1	c.1169C>G	NM_014911.5	NP_055726.4:p.(Pro390Arg)	NC_000002.11:g.69748007G>C	VUS	1 lab	c017ec4fd8
17:7798343 CHD3 C>T	17	7798343	7798343	C	T	CHD3	c.1378C>T	NM_001005273.3	NP_001005273.1:p.(Arg460Cys)	NC_000017.10:g.7798343C>T	VUS	1 lab	c019707482
9:140639069 EHMT1 C>T	9	140639069	140639069	C	T	EHMT1	c.1170+527C>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140639069C>T	(Likely) benign	1 lab	c01a8fb22e
3:81548325 GBE1 A>G	3	81548325	81548325	A	G	GBE1	c.1988T>C	NM_000158.4	NP_000149.4:p.(Leu663Pro)	NC_000003.11:g.81548325A>G	VUS	1 lab	c01ba7e8f5
12:116404030 MED13L G>A	12	116404030	116404030	G	A	MED13L	c.6244C>T	NM_015335.5	NP_056150.1:p.(Leu2082Phe)	NC_000012.11:g.116404030G>A	VUS	1 lab	2a3908c829
8:100403845 VPS13B T>C	8	100403845	100403845	T	C	VPS13B	c.2995T>C	NM_152564.5	NP_689777.3:p.(Ser999Pro)	NC_000008.10:g.100403845T>C	VUS	1 lab	c01ccc7aee
4:2829399 SH3BP2 A>C	4	2829399	2829399	A	C	SH3BP2	c.584A>C	NM_001122681.2	NP_001116153.1:p.(Glu195Ala)	NC_000004.11:g.2829399A>C	VUS	1 lab	c01dba1695
9:134504644 RAPGEF1 G>A	9	134504644	134504644	G	A	RAPGEF1	c.741-3C>T	NM_001377935.1	NP_001364864.1:p.?	NC_000009.11:g.134504644G>A	VUS	1 lab	c01e15bd4f
11:20657963 SLC6A5 A>G	11	20657963	20657963	A	G	SLC6A5	c.1735A>G	NM_004211.5	NP_004202.4:p.(Met579Val)	NC_000011.9:g.20657963A>G	VUS	1 lab	c01fa9a34e
14:45620722 FANCM G>A	14	45620722	45620722	G	A	FANCM	c.1041G>A	NM_020937.4	NP_065988.1:p.(Pro347=)	NC_000014.8:g.45620722G>A	(Likely) benign	1 lab	c01fb65014
22:21800460 HIC2 A>G	22	21800460	21800460	A	G	HIC2	c.1276A>G	NM_015094.3	NP_055909.2:p.(Met426Val)	NC_000022.10:g.21800460A>G	(Likely) benign	1 lab	c0210d457e
14:24552017 NRL T>G	14	24552017	24552017	T	G	NRL	c.41A>C	NM_001354768.3	NP_001341697.1:p.(Asn14Thr)	NC_000014.8:g.24552017T>G	VUS	1 lab	c0225d720e
2:85788015 GGCX G>C	2	85788015	85788015	G	C	GGCX	c.137C>G	NM_000821.7	NP_000812.2:p.(Ser46Cys)	NC_000002.11:g.85788015G>C	(Likely) benign	1 lab	c0235e0ff8
11:125891424 CDON G>T	11	125891424	125891424	G	T	CDON	c.77-9C>A	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125891424G>T	(Likely) benign	1 lab	c026904b3f
4:158168360 GRIA2 C>T	4	158168360	158168360	C	T	GRIA2	c.229+25401C>T	NM_001083619.3	NP_001077088.2:p.?	NC_000004.11:g.158168360C>T	VUS	1 lab	c0272aac22
12:116457172 MED13L TGA>T	12	116457172	116457178	TGA	T	MED13L	c.864_865del	NM_015335.5	NP_056150.1:p.(Gln289GlufsTer2)	NC_000012.11:g.116457177_116457178del	VUS	1 lab	c0273f56a3
17:26686416 VMA12 G>A	17	26686416	26686416	G	A	VMA12	c.364G>A	NM_152464.3	NP_689677.1:p.(Val122Ile)	NC_000017.10:g.26686416G>A	(Likely) benign	1 lab	c027efcff0
4:126238998 FAT4 C>G	4	126238998	126238998	C	G	FAT4	c.1432C>G	NM_001291303.3	NP_001278232.1:p.(Gln478Glu)	NC_000004.11:g.126238998C>G	(Likely) benign	1 lab	c027faccb8
1:35478107 ZMYM6 C>A	1	35478107	35478107	C	A	ZMYM6	c.871G>T	NM_007167.4	NP_009098.3:p.(Asp291Tyr)	NC_000001.10:g.35478107C>A	(Likely) benign	1 lab	c028231683
X:67283869 OPHN1 A>G	X	67283869	67283869	A	G	OPHN1	c.1985T>C	NM_002547.3	NP_002538.1:p.(Leu662Ser)	NC_000023.10:g.67283869A>G	(Likely) benign	1 lab	c02875203b
11:64697985 PPP2R5B C>T	11	64697985	64697985	C	T	PPP2R5B	c.815C>T	NM_006244.4	NP_006235.1:p.(Thr272Met)	NC_000011.9:g.64697985C>T	(Likely) benign	1 lab	c02b4f31e0
9:371440 DOCK8 T>C	9	371440	371440	T	C	DOCK8	c.1881T>C	NM_203447.3	NP_982272.2:p.(Phe627=)	NC_000009.11:g.371440T>C	(Likely) benign	1 lab	2c20b2ef04
19:44352521 ZNF283 GAGA>G	19	44352521	44352524	GAGA	G	ZNF283	c.1769_1771del	NM_181845.2	NP_862828.1:p.(Glu590_Arg591delinsGly)	NC_000019.9:g.44352522_44352524del	VUS	1 lab	c0319fe813
11:68216312 LRP5 C>G	11	68216312	68216312	C	G	LRP5	c.4622C>G	NM_002335.4	NP_002326.2:p.(Thr1541Arg)	NC_000011.9:g.68216312C>G	VUS	1 lab	c031a2292d
16:72055088 DHODH G>A	16	72055088	72055088	G	A	DHODH	c.583G>A	NM_001361.5	NP_001352.2:p.(Ala195Thr)	NC_000016.9:g.72055088G>A	(Likely) benign	1 lab	c03326b73b
7:94045723 COL1A2 C>T	7	94045723	94045723	C	T	COL1A2	c.1771C>T	NM_000089.4	NP_000080.2:p.(Arg591Cys)	NC_000007.13:g.94045723C>T	VUS	1 lab	c0354c5b42
6:3222399 MISSING C>A	6	3222399	3222399	C	A	MISSING				NC_000006.11:g.3222399C>A	VUS	1 lab	c0371323b0
19:50826335 KCNC3 C>A	19	50826335	50826335	C	A	KCNC3	c.1875G>T	NM_004977.3	NP_004968.2:p.(Arg625Ser)	NC_000019.9:g.50826335C>A	(Likely) benign	1 lab	c03740e5dc
X:38145021 RPGR A>T	X	38145021	38145021	A	T	RPGR	c.3231T>A	NM_001034853.2	NP_001030025.1:p.(Asn1077Lys)	NC_000023.10:g.38145021A>T	(Likely) benign	1 lab	c0376a728a
6:31323134 HLA-B T>A	6	31323134	31323134	T	A	HLA-B	c.855A>T	NM_005514.8	NP_005505.2:p.(Val285=)	NC_000006.11:g.31323134T>A	(Likely) benign	1 lab	c03795111a
9:135944498 CEL G>A	9	135944498	135944498	G	A	CEL	c.1138G>A	NM_001807.6	NP_001798.3:p.(Ala380Thr)	NC_000009.11:g.135944498G>A	(Likely) benign	1 lab	c0391c5100
11:31814946 PAX6 T>C	11	31814946	31814946	T	C	PAX6	c.1074+40A>G	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31814946T>C	(Likely) benign	1 lab	c03a13b075
6:44274067 AARS2 C>T	6	44274067	44274067	C	T	AARS2	c.1250G>A	NM_020745.4	NP_065796.2:p.(Arg417Gln)	NC_000006.11:g.44274067C>T	VUS	1 lab	c03a8513f1
10:79581579 DLG5 G>C	10	79581579	79581579	G	C	DLG5	c.2663C>G	NM_004747.4	NP_004738.3:p.(Ser888Cys)	NC_000010.10:g.79581579G>C	VUS	1 lab	c03c86954e
13:20657467 ZMYM2 G>A	13	20657467	20657467	G	A	ZMYM2	c.3820+295G>A	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20657467G>A	(Likely) benign	1 lab	c03d35931e
7:647061 PRKAR1B T>C	7	647061	647061	T	C	PRKAR1B	c.469A>G	NM_001164760.2	NP_001158232.1:p.(Thr157Ala)	NC_000007.13:g.647061T>C	(Likely) benign	1 lab	c03e18edf5
20:34527039 PHF20 C>G	20	34527039	34527039	C	G	PHF20	c.2712+9C>G	NM_016436.5	NP_057520.2:p.?	NC_000020.10:g.34527039C>G	(Likely) benign	1 lab	c03e3619e9
3:12421231 PPARG A>G	3	12421231	12421231	A	G	PPARG	c.21A>G	NM_138711.6	NP_619725.3:p.(Pro7=)	NC_000003.11:g.12421231A>G	(Likely) benign	1 lab	c0401c06f3
1:145762238 PDZK1 C>T	1	145762238	145762238	C	T	PDZK1	c.1415C>T	NM_001201325.2	NP_001188254.1:p.(Ser472Phe)	NC_000001.10:g.145762238C>T	(Likely) benign	1 lab	c04293d255
22:35808551 MCM5 G>A	22	35808551	35808551	G	A	MCM5	c.968G>A	NM_006739.4	NP_006730.2:p.(Arg323His)	NC_000022.10:g.35808551G>A	VUS	1 lab	c04318467b
16:7568263 RBFOX1 C>T	16	7568263	7568263	C	T	RBFOX1	c.142C>T	NM_018723.4	NP_061193.2:p.(Pro48Ser)	NC_000016.9:g.7568263C>T	(Likely) benign	1 lab	c0441a64d0
7:39990423 CDK13 G>C	7	39990423	39990423	G	C	CDK13	c.183G>C	NM_003718.5	NP_003709.3:p.(Leu61=)	NC_000007.13:g.39990423G>C	(Likely) benign	1 lab	c04427e522
8:107696594 OXR1 A>G	8	107696594	107696594	A	G	OXR1	c.525+7A>G	NM_001198533.2	NP_001185462.1:p.?	NC_000008.10:g.107696594A>G	(Likely) benign	1 lab	c045a334eb
16:3780901 CREBBP G>A	16	3780901	3780901	G	A	CREBBP	c.5172+292C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3780901G>A	(Likely) benign	1 lab	c0460594a7
13:72440658 DACH1 TGCCGCCGCCGCCGCC>T	13	72440658	72440689	TGCCGCCGCCGCCGCC	T	DACH1	c.235_243del	NM_080759.6	NP_542937.3:p.(Gly79_Gly81del)	NC_000013.10:g.72440675_72440689del	VUS	1 lab	c046215f89
9:131939903 IER5L G>GGCC	9	131939903	131939920	G	GGCC	IER5L	c.426_428dup	NM_203434.3	NP_982258.2:p.(Ala143dup)	NC_000009.11:g.131939918_131939920dup	VUS	1 lab	c04ae16c8b
5:170319411 RANBP17 G>A	5	170319411	170319411	G	A	RANBP17	c.277G>A	NM_022897.5	NP_075048.1:p.(Val93Met)	NC_000005.9:g.170319411G>A	VUS	1 lab	c04c5e5655
2:27157542 DPYSL5 C>T	2	27157542	27157542	C	T	DPYSL5	c.887C>T	NM_020134.4	NP_064519.2:p.(Thr296Met)	NC_000002.11:g.27157542C>T	(Likely) benign	1 lab	c04cab6a61
6:90399854 MDN1 T>C	6	90399854	90399854	T	C	MDN1	c.10758A>G	NM_014611.3	NP_055426.1:p.(Ala3586=)	NC_000006.11:g.90399854T>C	(Likely) benign	1 lab	c04cdb81b3
10:8100639 GATA3 A>T	10	8100639	8100639	A	T	GATA3	c.613A>T	NM_001002295.2	NP_001002295.1:p.(Met205Leu)	NC_000010.10:g.8100639A>T	VUS	1 lab	c04e57056a
12:124242474 ATP6V0A2 G>T	12	124242474	124242474	G	T	ATP6V0A2	c.2466G>T	NM_012463.4	NP_036595.2:p.(Trp822Cys)	NC_000012.11:g.124242474G>T	(Likely) benign	1 lab	c05036872b
22:26222418 MYO18B C>T	22	26222418	26222418	C	T	MYO18B	c.2738C>T	NM_032608.7	NP_115997.5:p.(Ser913Leu)	NC_000022.10:g.26222418C>T	VUS	1 lab	c05057510a
X:151870055 MAGEA3 T>C	X	151870055	151870055	T	C	MAGEA3	c.745=	NM_005362.4	NP_005353.1:p.(His249=)	NC_000023.10:g.151870055T>C	(Likely) benign	1 lab	c050afae62
10:50669419 ERCC6 G>C	10	50669419	50669419	G	C	ERCC6	c.3962C>G	NM_000124.4	NP_000115.1:p.(Ser1321Cys)	NC_000010.10:g.50669419G>C	VUS	1 lab	2a3a21a48b
5:94936542 ARSK G>A	5	94936542	94936542	G	A	ARSK	c.1097-9G>A	NM_198150.3	NP_937793.1:p.?	NC_000005.9:g.94936542G>A	(Likely) benign	1 lab	c052e8dcab
16:29818529 MAZ GGCGCCC>G	16	29818529	29818538	GGCGCCC	G	MAZ	c.427_432del	NM_002383.4	NP_002374.2:p.(Pro143_Ala144del)	NC_000016.9:g.29818533_29818538del	VUS	1 lab	c05339c603
21:41414441 DSCAM GTCAACTGC>G	21	41414441	41414451	GTCAACTGC	G	DSCAM	c.5535_5542del	NM_001389.5	NP_001380.2:p.(Glu1845AspfsTer6)	NC_000021.8:g.41414444_41414451del	VUS	1 lab	c05390398e
19:42752978 ERF G>A	19	42752978	42752978	G	A	ERF	c.1286C>T	NM_006494.4	NP_006485.2:p.(Pro429Leu)	NC_000019.9:g.42752978G>A	VUS	1 lab	c131c1cfa3
15:23890794 MAGEL2 G>A	15	23890794	23890794	G	A	MAGEL2	c.2096C>T	NM_019066.5	NP_061939.3:p.(Pro699Leu)	NC_000015.9:g.23890794G>A	VUS	1 lab	c053f20866
1:179399652 AXDND1 TAAAC>T	1	179399652	179399658	TAAAC	T	AXDND1	c.1401_1404del	NM_144696.6	NP_653297.3:p.(Gln468ArgfsTer2)	NC_000001.10:g.179399655_179399658del	VUS	1 lab	c054729c75
10:104404931 TRIM8 G>A	10	104404931	104404931	G	A	TRIM8	c.557G>A	NM_030912.3	NP_112174.2:p.(Arg186Lys)	NC_000010.10:g.104404931G>A	VUS	1 lab	c05587ba21
10:104377066 SUFU C>T	10	104377066	104377066	C	T	SUFU	c.1177C>T	NM_016169.4	NP_057253.2:p.(Arg393Trp)	NC_000010.10:g.104377066C>T	VUS	1 lab	c0562e0227
9:109691115 ZNF462 A>C	9	109691115	109691115	A	C	ZNF462	c.4922A>C	NM_021224.6	NP_067047.4:p.(Glu1641Ala)	NC_000009.11:g.109691115A>C	(Likely) benign	1 lab	c056c16497
18:32825747 ZNF397 C>T	18	32825747	32825747	C	T	ZNF397	c.1078C>T	NM_001135178.3	NP_001128650.1:p.(Arg360Trp)	NC_000018.9:g.32825747C>T	VUS	1 lab	c058219706
3:47888997 DHX30 T>C	3	47888997	47888997	T	C	DHX30	c.2081T>C	NM_138615.3	NP_619520.1:p.(Met694Thr)	NC_000003.11:g.47888997T>C	(Likely) benign	1 lab	c058c9eaf8
20:6751044 BMP2 G>T	20	6751044	6751044	G	T	BMP2	c.271G>T	NM_001200.4	NP_001191.1:p.(Gly91Cys)	NC_000020.10:g.6751044G>T	VUS	1 lab	c059bcd3a3
2:170129529 LRP2 A>G	2	170129529	170129529	A	G	LRP2	c.2024T>C	NM_004525.3	NP_004516.2:p.(Val675Ala)	NC_000002.11:g.170129529A>G	VUS	1 lab	c05ad0ea3d
2:132021643 POTEE C>G	2	132021643	132021643	C	G	POTEE	c.2615C>G	NM_001083538.3	NP_001077007.1:p.(Pro872Arg)	NC_000002.11:g.132021643C>G	VUS	1 lab	c05f6a3ff5
X:32503090 DMD G>A	X	32503090	32503090	G	A	DMD	c.2749C>T	NM_004006.3	NP_003997.2:p.(His917Tyr)	NC_000023.10:g.32503090G>A	VUS	1 lab	c05ff070e5
2:223096791 PAX3 C>T	2	223096791	223096791	C	T	PAX3	c.792+6G>A	NM_181458.4	NP_852123.1:p.?	NC_000002.11:g.223096791C>T	(Likely) benign	1 lab	c0620ff6ce
9:130440749 STXBP1 C>T	9	130440749	130440749	C	T	STXBP1	c.1399C>T	NM_001032221.6	NP_001027392.1:p.(Arg467Cys)	NC_000009.11:g.130440749C>T	VUS	1 lab	c062795a91
X:45011187 DIPK2B G>C	X	45011187	45011187	G	C	DIPK2B	c.1012C>G	NM_176819.4	NP_789789.2:p.(Leu338Val)	NC_000023.10:g.45011187G>C	VUS	1 lab	c067616772
21:44839794 SIK1 C>T	21	44839794	44839794	C	T	SIK1	c.1064G>A	NM_173354.5	NP_775490.2:p.(Arg355His)	NC_000021.8:g.44839794C>T	(Likely) benign	1 lab	c06850aae7
10:64913893 NRBF2 A>G	10	64913893	64913893	A	G	NRBF2	c.779A>G	NM_030759.5	NP_110386.2:p.(Asn260Ser)	NC_000010.10:g.64913893A>G	(Likely) benign	1 lab	c06a08d3f9
6:33652542 ITPR3 C>T	6	33652542	33652542	C	T	ITPR3	c.5138-9C>T	NM_002224.4	NP_002215.2:p.?	NC_000006.11:g.33652542C>T	(Likely) benign	1 lab	c06a144419
2:43797624 THADA G>C	2	43797624	43797624	G	C	THADA	c.2090C>G	NM_022065.5	NP_071348.3:p.(Ser697Cys)	NC_000002.11:g.43797624G>C	(Likely) benign	1 lab	c06a78b302
1:40556992 PPT1 CAA>C	1	40556992	40556995	CAA	C	PPT1	c.433+7_433+8del	NM_000310.4	NP_000301.1:p.?	NC_000001.10:g.40556994_40556995del	(Likely) benign	1 lab	c06a9653da
1:210948781 KCNH1 C>T	1	210948781	210948781	C	T	KCNH1	c.2021G>A	NM_172362.3	NP_758872.1:p.(Arg674Gln)	NC_000001.10:g.210948781C>T	(Likely) benign	1 lab	c06b5156bf
3:4722367 ITPR1 A>T	3	4722367	4722367	A	T	ITPR1	c.3098A>T	NM_001378452.1	NP_001365381.1:p.(Asn1033Ile)	NC_000003.11:g.4722367A>T	(Likely) benign	1 lab	c06c5075d0
7:99769169 GPC2 G>A	7	99769169	99769169	G	A	GPC2	c.1303C>T	NM_152742.3	NP_689955.1:p.(Arg435Trp)	NC_000007.13:g.99769169G>A	VUS	1 lab	c06d97756b
11:17409449 KCNJ11 C>A	11	17409449	17409449	C	A	KCNJ11	c.190G>T	NM_000525.4	NP_000516.3:p.(Val64Leu)	NC_000011.9:g.17409449C>A	VUS	1 lab	c06e163fd9
9:137593122 COL5A1 C>G	9	137593122	137593122	C	G	COL5A1	c.597C>G	NM_000093.5	NP_000084.3:p.(Ile199Met)	NC_000009.11:g.137593122C>G	(Likely) benign	1 lab	c06efd6760
17:70118934 SOX9 A>G	17	70118934	70118934	A	G	SOX9	c.506A>G	NM_000346.4	NP_000337.1:p.(His169Arg)	NC_000017.10:g.70118934A>G	(Likely) pathogenic	1 lab	c071be8176
6:13316909 TBC1D7 G>T	6	13316909	13316909	G	T	TBC1D7	c.413C>A	NM_016495.6	NP_057579.1:p.(Ala138Asp)	NC_000006.11:g.13316909G>T	(Likely) benign	1 lab	c077e55624
5:149511538 PDGFRB T>A	5	149511538	149511538	T	A	PDGFRB	c.1243+4A>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149511538T>A	(Likely) benign	1 lab	c078b57f89
4:79417948 FRAS1 A>G	4	79417948	79417948	A	G	FRAS1	c.8959-11A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79417948A>G	(Likely) benign	1 lab	2c19a0187f
12:32871653 DNM1L A>AAGG	12	32871653	32871656	A	AAGG	DNM1L	c.697_699dup	NM_012062.5	NP_036192.2:p.(Arg233dup)	NC_000012.11:g.32871654_32871656dup	(Likely) pathogenic	1 lab	c07b6fcad2
7:81334962 HGF C>T	7	81334962	81334962	C	T	HGF	c.1864+1G>A	NM_000601.6	NP_000592.3:p.?	NC_000007.13:g.81334962C>T	VUS	1 lab	c07c2f57e6
3:27758832 EOMES G>T	3	27758832	27758832	G	T	EOMES	c.1847C>A	NM_001278182.2	NP_001265111.1:p.(Pro616His)	NC_000003.11:g.27758832G>T	VUS	1 lab	c07daaa332
2:216240351 FN1 C>T	2	216240351	216240351	C	T	FN1	c.5977+1G>A	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216240351C>T	VUS	1 lab	c07e7e02f6
1:38287861 MTF1 T>C	1	38287861	38287861	T	C	MTF1	c.1699A>G	NM_005955.3	NP_005946.2:p.(Met567Val)	NC_000001.10:g.38287861T>C	(Likely) benign	1 lab	c07f1ad8b6
19:1460865 APC2 C>T	19	1460865	1460865	C	T	APC2	c.1521+9C>T	NM_005883.3	NP_005874.1:p.?	NC_000019.9:g.1460865C>T	(Likely) benign	1 lab	c07faf3e31
17:28361357 EFCAB5 G>A	17	28361357	28361357	G	A	EFCAB5	c.1154G>A	NM_198529.4	NP_940931.3:p.(Arg385Gln)	NC_000017.10:g.28361357G>A	(Likely) benign	1 lab	c07fca55d1
20:45891085 ZMYND8 G>A	20	45891085	45891085	G	A	ZMYND8	c.1568C>T	NM_001281775.3	NP_001268704.1:p.(Thr523Met)	NC_000020.10:g.45891085G>A	VUS	1 lab	c081191899
5:149357554 SLC26A2 G>A	5	149357554	149357554	G	A	SLC26A2	c.339G>A	NM_000112.4	NP_000103.2:p.(Met113Ile)	NC_000005.9:g.149357554G>A	VUS	1 lab	c08373ec1f
8:110492245 PKHD1L1 T>TA	8	110492245	110492246	T	TA	PKHD1L1	c.9205dup	NM_177531.6	NP_803875.2:p.(Met3069AsnfsTer18)	NC_000008.10:g.110492246dup	VUS	1 lab	c084777e46
6:102337507 GRIK2 G>A	6	102337507	102337507	G	A	GRIK2	c.1525-8G>A	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102337507G>A	(Likely) benign	1 lab	c08725e113
5:13919281 DNAH5 C>T	5	13919281	13919281	C	T	DNAH5	c.975+4G>A	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13919281C>T	(Likely) benign	1 lab	c087f551c4
10:73082579 SLC29A3 G>A	10	73082579	73082579	G	A	SLC29A3	c.68G>A	NM_018344.6	NP_060814.4:p.(Ser23Asn)	NC_000010.10:g.73082579G>A	(Likely) benign	1 lab	c087f7164e
10:50708616 ERCC6 G>GA	10	50708616	50708617	G	GA	ERCC6	c.1652_1653insT	NM_000124.4	NP_000115.1:p.(Ser552GlnfsTer13)	NC_000010.10:g.50708616_50708617insA	VUS	1 lab	c0890620cc
12:116429724 MED13L T>C	12	116429724	116429724	T	C	MED13L	c.3035A>G	NM_015335.5	NP_056150.1:p.(Tyr1012Cys)	NC_000012.11:g.116429724T>C	VUS	1 lab	c08de17193
11:118343787 KMT2A C>T	11	118343787	118343787	C	T	KMT2A	c.1913C>T	NM_001197104.2	NP_001184033.1:p.(Ala638Val)	NC_000011.9:g.118343787C>T	VUS	1 lab	c08e63b67e
16:15811102 MYH11 T>G	16	15811102	15811102	T	G	MYH11	c.5399A>C	NM_002474.3	NP_002465.1:p.(Lys1800Thr)	NC_000016.9:g.15811102T>G	VUS	1 lab	c08f1e5c9b
15:34110876 RYR3 C>T	15	34110876	34110876	C	T	RYR3	c.10697C>T	NM_001036.6	NP_001027.3:p.(Thr3566Met)	NC_000015.9:g.34110876C>T	VUS	1 lab	c08f232f0b
12:52845601 KRT6B C>T	12	52845601	52845601	C	T	KRT6B	c.262G>A	NM_005555.4	NP_005546.2:p.(Gly88Arg)	NC_000012.11:g.52845601C>T	(Likely) benign	1 lab	2a3c382384
1:116194111 VANGL1 T>G	1	116194111	116194111	T	G	VANGL1	c.71+6T>G	NM_138959.3	NP_620409.1:p.?	NC_000001.10:g.116194111T>G	(Likely) benign	1 lab	c0921019d0
2:232127008 ARMC9 C>A	2	232127008	232127008	C	A	ARMC9	c.1027-11C>A	NM_025139.6	NP_079415.4:p.?	NC_000002.11:g.232127008C>A	(Likely) benign	1 lab	2c1c55be1e
9:98218565 PTCH1 ACGTGAACGGTGAACT>A	9	98218565	98218581	ACGTGAACGGTGAACT	A	PTCH1	c.3284_3298del	NM_000264.5	NP_000255.2:p.(Glu1095_His1099del)	NC_000009.11:g.98218567_98218581del	VUS	1 lab	c0925d4332
1:226578262 PARP1 G>A	1	226578262	226578262	G	A	PARP1	c.466C>T	NM_001618.4	NP_001609.2:p.(Arg156Cys)	NC_000001.10:g.226578262G>A	VUS	1 lab	c095561f93
9:139747877 MAMDC4 CCTCA>C	9	139747877	139747885	CCTCA	C	MAMDC4	c.300_303del	NM_206920.3	NP_996803.2:p.(His100GlnfsTer42)	NC_000009.11:g.139747882_139747885del	VUS	1 lab	c095bdca42
5:112090591 APC G>C	5	112090591	112090591	G	C	APC	c.4G>C	NM_000038.6	NP_000029.2:p.(Ala2Pro)	NC_000005.9:g.112090591G>C	VUS	1 lab	c0974a67d0
7:132193340 PLXNA4 C>T	7	132193340	132193340	C	T	PLXNA4	c.113G>A	NM_020911.2	NP_065962.1:p.(Arg38Gln)	NC_000007.13:g.132193340C>T	(Likely) benign	1 lab	c09844ff24
16:14024583 ERCC4 T>C	16	14024583	14024583	T	C	ERCC4	c.809T>C	NM_005236.3	NP_005227.1:p.(Leu270Pro)	NC_000016.9:g.14024583T>C	VUS	1 lab	c098b6d327
8:97285574 PTDSS1 T>C	8	97285574	97285574	T	C	PTDSS1	c.227T>C	NM_014754.3	NP_055569.1:p.(Val76Ala)	NC_000008.10:g.97285574T>C	VUS	1 lab	c099758026
1:44069436 PTPRF C>T	1	44069436	44069436	C	T	PTPRF	c.2613C>T	NM_002840.5	NP_002831.2:p.(Gly871=)	NC_000001.10:g.44069436C>T	VUS	1 lab	c09a7503db
8:101253124 SPAG1 G>T	8	101253124	101253124	G	T	SPAG1	c.2655G>T	NM_003114.5	NP_003105.2:p.(Met885Ile)	NC_000008.10:g.101253124G>T	(Likely) benign	1 lab	c09acb77fd
8:144992552 PLEC G>A	8	144992552	144992552	G	A	PLEC	c.11437C>T	NM_201384.3	NP_958786.1:p.(Arg3813Cys)	NC_000008.10:g.144992552G>A	VUS	1 lab	c09ad06e46
15:49054659 CEP152 C>T	15	49054659	49054659	C	T	CEP152	c.2491G>A	NM_001194998.2	NP_001181927.1:p.(Ala831Thr)	NC_000015.9:g.49054659C>T	VUS	1 lab	c09b8f0a18
X:70523762 ITGB1BP2 G>A	X	70523762	70523762	G	A	ITGB1BP2	c.639+1G>A	NM_012278.4	NP_036410.1:p.?	NC_000023.10:g.70523762G>A	VUS	1 lab	c1944e9a6e
19:44891022 ZNF285 CCA>C	19	44891022	44891030	CCA	C	ZNF285	c.1383_1384del	NM_152354.6	NP_689567.4:p.(Cys461TrpfsTer7)	NC_000019.9:g.44891029_44891030del	VUS	1 lab	c09c062534
15:28456264 HERC2 C>A	15	28456264	28456264	C	A	HERC2	c.6953G>T	NM_004667.6	NP_004658.3:p.(Cys2318Phe)	NC_000015.9:g.28456264C>A	(Likely) benign	1 lab	c09c8e5df8
1:158390041 OR10K2 C>A	1	158390041	158390041	C	A	OR10K2	c.616G>T	NM_001004476.2	NP_001004476.1:p.(Val206Phe)	NC_000001.10:g.158390041C>A	VUS	1 lab	c09cfef33b
19:17294689 MYO9B A>C	19	17294689	17294689	A	C	MYO9B	c.2373+12A>C	NM_001130065.2	NP_001123537.1:p.?	NC_000019.9:g.17294689A>C	(Likely) benign	1 lab	2c1e958048
4:88231491 HSD17B13 G>A	4	88231491	88231491	G	A	HSD17B13	c.716C>T	NM_178135.5	NP_835236.2:p.(Thr239Ile)	NC_000004.11:g.88231491G>A	(Likely) benign	1 lab	c0a2c80f7d
17:29676246 NF1 C>T	17	29676246	29676246	C	T	NF1	c.7298C>T	NM_001042492.3	NP_001035957.1:p.(Thr2433Ile)	NC_000017.10:g.29676246C>T	(Likely) benign	1 lab	c0a41ab6f4
12:49421845 KMT2D T>C	12	49421845	49421845	T	C	KMT2D	c.14462A>G	NM_003482.4	NP_003473.3:p.(Glu4821Gly)	NC_000012.11:g.49421845T>C	(Likely) benign	1 lab	c0a541704a
7:103183217 RELN C>T	7	103183217	103183217	C	T	RELN	c.6632G>A	NM_005045.4	NP_005036.2:p.(Arg2211His)	NC_000007.13:g.103183217C>T	VUS	1 lab	c0a64337dc
1:225237989 DNAH14 A>ATT	1	225237989	225237990	A	ATT	DNAH14	c.1990_1991insTT	NM_001367479.1	NP_001354408.1:p.(Lys664IlefsTer6)	NC_000001.10:g.225237989_225237990insTT	VUS	1 lab	c0a85584a8
8:61654037 CHD7 A>G	8	61654037	61654037	A	G	CHD7	c.46A>G	NM_017780.4	NP_060250.2:p.(Ile16Val)	NC_000008.10:g.61654037A>G	VUS	1 lab	c1589871e9
12:56630444 SLC39A5 G>C	12	56630444	56630444	G	C	SLC39A5	c.1121G>C	NM_173596.3	NP_775867.2:p.(Ser374Thr)	NC_000012.11:g.56630444G>C	VUS	1 lab	c0a88a4da6
5:125929000 ALDH7A1 AAC>A	5	125929000	125929036	AAC	A	ALDH7A1	c.246+41_246+42del	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929035_125929036del	(Likely) benign	1 lab	2a3cab29c9
11:47436886 SLC39A13 T>C	11	47436886	47436886	T	C	SLC39A13	c.1088T>C	NM_001128225.3	NP_001121697.2:p.(Met363Thr)	NC_000011.9:g.47436886T>C	VUS	1 lab	c0a9b5e3bb
2:166747477 TTC21B C>T	2	166747477	166747477	C	T	TTC21B	c.2972G>A	NM_024753.5	NP_079029.3:p.(Arg991His)	NC_000002.11:g.166747477C>T	VUS	1 lab	c0a9f2ce7a
19:33878318 PEPD C>T	19	33878318	33878318	C	T	PEPD	c.1414G>A	NM_000285.4	NP_000276.2:p.(Val472Met)	NC_000019.9:g.33878318C>T	VUS	1 lab	c0aecbf0eb
7:98452938 TMEM130 C>G	7	98452938	98452938	C	G	TMEM130	c.728G>C	NM_152913.3	NP_690877.1:p.(Arg243Pro)	NC_000007.13:g.98452938C>G	VUS	1 lab	c0aeeae311
1:184688324 EDEM3 A>C	1	184688324	184688324	A	C	EDEM3	c.1133T>G	NM_025191.4	NP_079467.3:p.(Val378Gly)	NC_000001.10:g.184688324A>C	VUS	1 lab	c0af9719f5
14:20836716 TEP1 C>T	14	20836716	20836716	C	T	TEP1	c.7764G>A	NM_007110.5	NP_009041.2:p.(Leu2588=)	NC_000014.8:g.20836716C>T	(Likely) benign	1 lab	c0afb548e4
15:89422386 HAPLN3 C>T	15	89422386	89422386	C	T	HAPLN3	c.608G>A	NM_178232.4	NP_839946.1:p.(Arg203Gln)	NC_000015.9:g.89422386C>T	(Likely) benign	1 lab	c0afb84093
2:42284535 PKDCC G>A	2	42284535	42284535	G	A	PKDCC	c.1396+1G>A	NM_138370.3	NP_612379.2:p.?	NC_000002.11:g.42284535G>A	VUS	1 lab	c0b05c8da0
14:20863723 TEP1 C>T	14	20863723	20863723	C	T	TEP1	c.1814G>A	NM_007110.5	NP_009041.2:p.(Arg605His)	NC_000014.8:g.20863723C>T	(Likely) benign	1 lab	c0b201cca2
9:140006394 DPP7 G>A	9	140006394	140006394	G	A	DPP7	c.1138C>T	NM_013379.3	NP_037511.2:p.(Arg380Trp)	NC_000009.11:g.140006394G>A	VUS	1 lab	c0b27ea195
11:114441938 NXPE4 T>A	11	114441938	114441938	T	A	NXPE4	c.1357A>T	NM_001077639.2	NP_001071107.1:p.(Asn453Tyr)	NC_000011.9:g.114441938T>A	VUS	1 lab	c0b3d5a966
6:51777194 PKHD1 T>A	6	51777194	51777194	T	A	PKHD1	c.6302A>T	NM_138694.4	NP_619639.3:p.(Asp2101Val)	NC_000006.11:g.51777194T>A	VUS	1 lab	c0b4a39669
13:32890627 BRCA2 AT>A	13	32890627	32890633	AT	A	BRCA2	c.36del	NM_000059.4	NP_000050.3:p.(Phe12LeufsTer13)	NC_000013.10:g.32890633del	(Likely) pathogenic	1 lab	2a3d9512f7
16:3900392 CREBBP G>A	16	3900392	3900392	G	A	CREBBP	c.704C>T	NM_004380.3	NP_004371.2:p.(Ser235Leu)	NC_000016.9:g.3900392G>A	(Likely) benign	1 lab	c0b61ba527
21:41031661 B3GALT5 CT>C	21	41031661	41031674	CT	C	B3GALT5	c.-160-6del	NM_001356336.2	NP_001343265.1:p.?	NC_000021.8:g.41031674del	(Likely) benign	1 lab	c0b6972613
11:67842185 CHKA G>A	11	67842185	67842185	G	A	CHKA	c.629C>T	NM_001277.3	NP_001268.2:p.(Pro210Leu)	NC_000011.9:g.67842185G>A	VUS	1 lab	c0b81e17d7
1:155023180 DCST1 G>A	1	155023180	155023180	G	A	DCST1	c.1957G>A	NM_152494.4	NP_689707.2:p.(Glu653Lys)	NC_000001.10:g.155023180G>A	(Likely) benign	1 lab	c0b83881cb
6:158540074 SERAC1 G>A	6	158540074	158540074	G	A	SERAC1	c.1295C>T	NM_032861.4	NP_116250.3:p.(Thr432Met)	NC_000006.11:g.158540074G>A	VUS	1 lab	c0b8996005
X:53115157 TSPYL2 A>G	X	53115157	53115157	A	G	TSPYL2	c.1583A>G	NM_022117.4	NP_071400.1:p.(Asn528Ser)	NC_000023.10:g.53115157A>G	VUS	1 lab	c0b8a080c8
22:50307468 ALG12 G>A	22	50307468	50307468	G	A	ALG12	c.-55C>T	NM_024105.4	NP_077010.1:p.?	NC_000022.10:g.50307468G>A	VUS	1 lab	c0b8d23e52
13:111117797 COL4A2 A>G	13	111117797	111117797	A	G	COL4A2	c.1822A>G	NM_001846.4	NP_001837.2:p.(Ile608Val)	NC_000013.10:g.111117797A>G	(Likely) benign	1 lab	c0b8f4be4d
11:2182003 INS C>T	11	2182003	2182003	C	T	INS	c.187+12G>A	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2182003C>T	(Likely) benign	1 lab	c0b9071aba
13:20233141 MPHOSPH8 G>A	13	20233141	20233141	G	A	MPHOSPH8	c.1583G>A	NM_017520.4	NP_059990.2:p.(Arg528Lys)	NC_000013.10:g.20233141G>A	(Likely) benign	1 lab	c0ba63092d
1:120298110 HMGCS2 G>A	1	120298110	120298110	G	A	HMGCS2	c.1127C>T	NM_005518.4	NP_005509.1:p.(Thr376Ile)	NC_000001.10:g.120298110G>A	VUS	1 lab	c0bbcc20f8
16:56857680 NUP93 C>T	16	56857680	56857680	C	T	NUP93	c.716C>T	NM_014669.5	NP_055484.3:p.(Thr239Met)	NC_000016.9:g.56857680C>T	(Likely) benign	1 lab	2c203459fd
12:121437371 HNF1A A>G	12	121437371	121437371	A	G	HNF1A	c.1709A>G	NM_000545.8	NP_000536.6:p.(Gln570Arg)	NC_000012.11:g.121437371A>G	VUS	1 lab	c0c0e7fb61
4:107157540 TBCK TC>T	4	107157540	107157542	TC	T	TBCK	c.1350+6del	NM_001163435.3	NP_001156907.2:p.?	NC_000004.11:g.107157542del	(Likely) benign	1 lab	c0c149b51c
8:67883303 PPP1R42 A>G	8	67883303	67883303	A	G	PPP1R42	c.803-6734T>C	NM_001364910.1	NP_001351839.1:p.?	NC_000008.10:g.67883303A>G	VUS	1 lab	c0c1e6b921
2:219922275 IHH T>A	2	219922275	219922275	T	A	IHH	c.457A>T	NM_002181.4	NP_002172.2:p.(Ile153Phe)	NC_000002.11:g.219922275T>A	(Likely) benign	1 lab	c0c8660334
5:140725648 PCDHGA1 A>T	5	140725648	140725648	A	T	PCDHGA1	c.2421+12976A>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140725648A>T	(Likely) benign	1 lab	c0cb6ee7dd
7:130042558 CEP41 G>C	7	130042558	130042558	G	C	CEP41	c.505C>G	NM_018718.3	NP_061188.1:p.(Pro169Ala)	NC_000007.13:g.130042558G>C	VUS	1 lab	c0cca72cda
2:189876400 COL3A1 G>A	2	189876400	189876400	G	A	COL3A1	c.4301G>A	NM_000090.4	NP_000081.2:p.(Arg1434His)	NC_000002.11:g.189876400G>A	VUS	1 lab	c0cd6c4f77
11:76925708 MYO7A G>A	11	76925708	76925708	G	A	MYO7A	c.6615G>A	NM_000260.4	NP_000251.3:p.(Met2205Ile)	NC_000011.9:g.76925708G>A	VUS	1 lab	c0ce14686b
5:38919159 OSMR A>C	5	38919159	38919159	A	C	OSMR	c.1580A>C	NM_003999.3	NP_003990.1:p.(Glu527Ala)	NC_000005.9:g.38919159A>C	(Likely) benign	1 lab	2a3db2fd0d
14:91948241 PPP4R3A G>A	14	91948241	91948241	G	A	PPP4R3A	c.594C>T	NM_001366432.2	NP_001353361.1:p.(Gly198=)	NC_000014.8:g.91948241G>A	VUS	1 lab	c0d1e68397
8:77768004 ZFHX4 T>G	8	77768004	77768004	T	G	ZFHX4	c.8847T>G	NM_024721.5	NP_078997.4:p.(Ser2949Arg)	NC_000008.10:g.77768004T>G	VUS	1 lab	c0d2813de1
5:121413317 LOX G>A	5	121413317	121413317	G	A	LOX	c.364C>T	NM_002317.7	NP_002308.2:p.(Arg122Cys)	NC_000005.9:g.121413317G>A	VUS	1 lab	c0d31bdd29
11:16071310 SOX6 A>G	11	16071310	16071310	A	G	SOX6	c.1426T>C	NM_001367873.1	NP_001354802.1:p.(Ser476Pro)	NC_000011.9:g.16071310A>G	(Likely) benign	1 lab	c0d31c973d
17:42824479 DBF4B CG>C	17	42824479	42824480	CG	C	DBF4B	c.860del	NM_145663.3	NP_663696.1:p.(Arg287HisfsTer101)	NC_000017.10:g.42824480del	VUS	1 lab	c0d3c9f49a
17:19251117 B9D1 G>A	17	19251117	19251117	G	A	B9D1	c.321C>T	NM_015681.5	NP_056496.1:p.(His107=)	NC_000017.10:g.19251117G>A	(Likely) benign	1 lab	c0d601383a
4:366713 ZNF141 C>T	4	366713	366713	C	T	ZNF141	c.487C>T	NM_003441.4	NP_003432.1:p.(Arg163Cys)	NC_000004.11:g.366713C>T	(Likely) benign	1 lab	c0d733eb32
17:18145891 LLGL1 C>T	17	18145891	18145891	C	T	LLGL1	c.3065C>T	NM_004140.4	NP_004131.4:p.(Thr1022Met)	NC_000017.10:g.18145891C>T	(Likely) benign	1 lab	c0d9c592e2
X:30269613 MAGEB1 C>T	X	30269613	30269613	C	T	MAGEB1	c.1003C>T	NM_177404.3	NP_796379.1:p.(Arg335Cys)	NC_000023.10:g.30269613C>T	(Likely) benign	1 lab	c0dba8debc
20:61981402 CHRNA4 C>T	20	61981402	61981402	C	T	CHRNA4	c.1361G>A	NM_000744.7	NP_000735.1:p.(Gly454Asp)	NC_000020.10:g.61981402C>T	(Likely) benign	1 lab	c0dbb46870
7:77755033 MAGI2 G>T	7	77755033	77755033	G	T	MAGI2	c.3545C>A	NM_012301.4	NP_036433.2:p.(Ala1182Glu)	NC_000007.13:g.77755033G>T	VUS	1 lab	c0dd13c3fa
2:166179970 SCN2A G>A	2	166179970	166179970	G	A	SCN2A	c.1976G>A	NM_001040142.2	NP_001035232.1:p.(Gly659Asp)	NC_000002.11:g.166179970G>A	(Likely) benign	1 lab	c0dddc1fb7
17:7124093 ACADVL G>A	17	7124093	7124093	G	A	ACADVL	c.286G>A	NM_000018.4	NP_000009.1:p.(Glu96Lys)	NC_000017.10:g.7124093G>A	VUS	1 lab	c0de0226dd
2:178494141 PDE11A CCT>C	2	178494141	178494143	CCT	C	PDE11A	c.2794_2795del	NM_016953.4	NP_058649.3:p.(Arg932GlufsTer16)	NC_000002.11:g.178494142_178494143del	VUS	1 lab	c0dec1b7a2
19:51220062 SHANK1 C>T	19	51220062	51220062	C	T	SHANK1	c.115G>A	NM_016148.5	NP_057232.2:p.(Gly39Arg)	NC_000019.9:g.51220062C>T	(Likely) benign	1 lab	c0df0c3dc5
11:63531343 ZFTA TAAG>T	11	63531343	63531346	TAAG	T	ZFTA	c.1586-5_1586-3del	NM_001144936.2	NP_001138408.1:p.?	NC_000011.9:g.63531344_63531346del	VUS	1 lab	c0df282920
3:58149046 FLNB G>A	3	58149046	58149046	G	A	FLNB	c.7187G>A	NM_001457.4	NP_001448.2:p.(Gly2396Glu)	NC_000003.11:g.58149046G>A	(Likely) benign	1 lab	c0e1a8d06b
8:145004713 PLEC GA>G	8	145004713	145004714	GA	G	PLEC	c.2305-10del	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145004714del	VUS	1 lab	c0e27d6d48
X:44401210 FUNDC1 T>C	X	44401210	44401210	T	C	FUNDC1	c.166A>G	NM_173794.4	NP_776155.1:p.(Met56Val)	NC_000023.10:g.44401210T>C	VUS	1 lab	c0e3caa5b5
3:47164030 SETD2 T>C	3	47164030	47164030	T	C	SETD2	c.2096A>G	NM_014159.7	NP_054878.5:p.(Asp699Gly)	NC_000003.11:g.47164030T>C	(Likely) benign	1 lab	c0e3d52019
18:58039101 MC4R A>G	18	58039101	58039101	A	G	MC4R	c.482T>C	NM_005912.3	NP_005903.2:p.(Met161Thr)	NC_000018.9:g.58039101A>G	(Likely) pathogenic	1 lab	c0e450c3c0
1:240964793 RGS7 C>T	1	240964793	240964793	C	T	RGS7	c.1375G>A	NM_001364886.1	NP_001351815.1:p.(Asp459Asn)	NC_000001.10:g.240964793C>T	(Likely) benign	1 lab	c0e4ee42c7
2:152476162 NEB G>A	2	152476162	152476162	G	A	NEB	c.10675C>T	NM_001164508.2	NP_001157980.2:p.(Arg3559Cys)	NC_000002.11:g.152476162G>A	(Likely) benign	1 lab	c0e5e7b53d
X:37850140 H2AP G>C	X	37850140	37850140	G	C	H2AP	c.48G>C	NM_012274.2	NP_036406.1:p.(Gln16His)	NC_000023.10:g.37850140G>C	VUS	1 lab	c123292a01
X:22095758 PHEX T>G	X	22095758	22095758	T	G	PHEX	c.601T>G	NM_000444.6	NP_000435.3:p.(Ser201Ala)	NC_000023.10:g.22095758T>G	VUS	1 lab	2a3e123b75
11:118626964 DDX6 C>A	11	118626964	118626964	C	A	DDX6	c.1174+5G>T	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118626964C>A	(Likely) benign	1 lab	c0e7b58089
14:45644477 FANCM TAAAC>T	14	45644477	45644485	TAAAC	T	FANCM	c.2525_2528del	NM_020937.4	NP_065988.1:p.(Gln842LeufsTer11)	NC_000014.8:g.45644482_45644485del	VUS	1 lab	c0e7bdbb33
10:115401182 NRAP C>T	10	115401182	115401182	C	T	NRAP	c.1265G>A	NM_198060.4	NP_932326.2:p.(Gly422Glu)	NC_000010.10:g.115401182C>T	(Likely) benign	1 lab	c0e8b1e9a3
1:35250841 GJB3 C>T	1	35250841	35250841	C	T	GJB3	c.478C>T	NM_024009.3	NP_076872.1:p.(Arg160Cys)	NC_000001.10:g.35250841C>T	VUS	1 lab	c0e92e6ba9
9:140610854 EHMT1 T>TGG	9	140610854	140610859	T	TGG	EHMT1	c.86-220_86-219dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610858_140610859dup	(Likely) benign	1 lab	c0e9487cc2
1:9164605 GPR157 C>G	1	9164605	9164605	C	G	GPR157	c.881G>C	NM_024980.5	NP_079256.4:p.(Cys294Ser)	NC_000001.10:g.9164605C>G	(Likely) benign	1 lab	c0ea583d85
17:39742617 KRT14 GCA>CTG	17	39742617	39742619	GCA	CTG	KRT14	c.468_470delinsCAG	NM_000526.5	NP_000517.3:p.(Ala157Ser)	NC_000017.10:g.39742617_39742619delinsCTG	VUS	1 lab	c0ea99e9fe
5:140798879 PCDHGB4 G>C	5	140798879	140798879	G	C	PCDHGB4	c.2397+29031G>C	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140798879G>C	VUS	1 lab	c0eadeb784
3:184071906 CLCN2 G>A	3	184071906	184071906	G	A	CLCN2	c.1704C>T	NM_004366.6	NP_004357.3:p.(Leu568=)	NC_000003.11:g.184071906G>A	(Likely) benign	1 lab	c0eb1acf2f
14:105683876 BRF1 G>GGTACCTT	14	105683876	105683883	G	GGTACCTT	BRF1	c.1770_1772+4dup	NM_001519.4	NP_001510.2:p.?	NC_000014.8:g.105683877_105683883dup	VUS	1 lab	c0eb99f98c
21:33044073 SCAF4 C>T	21	33044073	33044073	C	T	SCAF4	c.3083G>A	NM_020706.2	NP_065757.1:p.(Arg1028His)	NC_000021.8:g.33044073C>T	(Likely) benign	1 lab	c0ebda1a6f
16:30749648 SRCAP C>G	16	30749648	30749648	C	G	SRCAP	c.8287C>G	NM_006662.3	NP_006653.2:p.(Leu2763Val)	NC_000016.9:g.30749648C>G	VUS	1 lab	c0ecd31391
7:100383733 ZAN G>A	7	100383733	100383733	G	A	ZAN	c.6949G>A	NM_003386.3	NP_003377.2:p.(Asp2317Asn)	NC_000007.13:g.100383733G>A	(Likely) benign	1 lab	c0ece078f7
14:36986607 NKX2-1 G>A	14	36986607	36986607	G	A	NKX2-1	c.1082C>T	NM_001079668.3	NP_001073136.1:p.(Ala361Val)	NC_000014.8:g.36986607G>A	(Likely) benign	1 lab	c0ef35220b
9:127262898 NR5A1 C>T	9	127262898	127262898	C	T	NR5A1	c.341G>A	NM_004959.5	NP_004950.2:p.(Arg114Gln)	NC_000009.11:g.127262898C>T	VUS	1 lab	c0ef66904b
4:88537177 DSPP CAATAGCAGT>C	4	88537177	88537186	CAATAGCAGT	C	DSPP	c.3364_3372del	NM_014208.3	NP_055023.2:p.(Asn1122_Ser1124del)	NC_000004.11:g.88537178_88537186del	(Likely) benign	1 lab	c0ef81b30f
12:112036694 ATXN2 C>T	12	112036694	112036694	C	T	ATXN2	c.145G>A	NM_001372574.1	NP_001359503.1:p.(Ala49Thr)	NC_000012.11:g.112036694C>T	(Likely) benign	1 lab	c0f1b20c59
X:70354102 MED12 C>A	X	70354102	70354102	C	A	MED12	c.4618-105C>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70354102C>A	(Likely) benign	1 lab	2c2efa086e
X:153133500 L1CAM C>T	X	153133500	153133500	C	T	L1CAM	c.1781G>A	NM_001278116.2	NP_001265045.1:p.(Ser594Asn)	NC_000023.10:g.153133500C>T	(Likely) benign	1 lab	c0f4f06523
2:45169336 SIX3 TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC>T	2	45169336	45169416	TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC	T	SIX3	c.126_173del	NM_005413.4	NP_005404.1:p.(Gly43_Gly58del)	NC_000002.11:g.45169369_45169416del	(Likely) benign	1 lab	c0f551cca7
1:12056440 MFN2 C>T	1	12056440	12056440	C	T	MFN2	c.474+65C>T	NM_014874.3	NP_055689.1:p.?	NC_000001.10:g.12056440C>T	(Likely) benign	1 lab	2c2f3f0d5a
3:188327023 LPP C>A	3	188327023	188327023	C	A	LPP	c.504C>A	NM_001375462.1	NP_001362391.1:p.(Asn168Lys)	NC_000003.11:g.188327023C>A	VUS	1 lab	c0f6a4b461
12:50480455 SMARCD1 A>G	12	50480455	50480455	A	G	SMARCD1	c.408+9A>G	NM_003076.5	NP_003067.3:p.?	NC_000012.11:g.50480455A>G	(Likely) benign	1 lab	c0f75d8716
1:176760568 PAPPA2 C>G	1	176760568	176760568	C	G	PAPPA2	c.4970C>G	NM_020318.3	NP_064714.2:p.(Pro1657Arg)	NC_000001.10:g.176760568C>G	(Likely) benign	1 lab	c0f860c1fd
11:2906248 CDKN1C G>C	11	2906248	2906248	G	C	CDKN1C	c.439C>G	NM_001122630.2	NP_001116102.1:p.(Pro147Ala)	NC_000011.9:g.2906248G>C	VUS	1 lab	c0f8d0e5f2
4:2929996 ADD1 G>C	4	2929996	2929996	G	C	ADD1	c.2146G>C	NM_001354761.2	NP_001341690.1:p.(Gly716Arg)	NC_000004.11:g.2929996G>C	VUS	1 lab	c0f8e53e33
12:58022024 B4GALNT1 G>A	12	58022024	58022024	G	A	B4GALNT1	c.1024C>T	NM_001478.5	NP_001469.1:p.(Leu342=)	NC_000012.11:g.58022024G>A	(Likely) benign	1 lab	c0fcc68aea
X:54570701 GNL3L G>A	X	54570701	54570701	G	A	GNL3L	c.572G>A	NM_001184819.2	NP_001171748.1:p.(Arg191Gln)	NC_000023.10:g.54570701G>A	(Likely) benign	1 lab	c0fd61b8a5
21:36164606 RUNX1 G>A	21	36164606	36164606	G	A	RUNX1	c.1269C>T	NM_001754.5	NP_001745.2:p.(Arg423=)	NC_000021.8:g.36164606G>A	VUS	1 lab	c0ff097b48
16:88927347 TRAPPC2L A>G	16	88927347	88927347	A	G	TRAPPC2L	c.400A>G	NM_001318525.2	NP_001305454.1:p.(Met134Val)	NC_000016.9:g.88927347A>G	VUS	1 lab	c0ff9d499c
X:70628587 TAF1 G>A	X	70628587	70628587	G	A	TAF1	c.4384+586G>A	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70628587G>A	(Likely) benign	1 lab	c100eb3540
17:76476873 DNAH17 G>A	17	76476873	76476873	G	A	DNAH17	c.7650-5C>T	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76476873G>A	(Likely) benign	1 lab	c100f7948f
19:36269446 ARHGAP33 G>T	19	36269446	36269446	G	T	ARHGAP33	c.351G>T	NM_001366178.1	NP_001353107.1:p.(Arg117=)	NC_000019.9:g.36269446G>T	VUS	1 lab	c102dcee8a
14:50616548 SOS2 A>G	14	50616548	50616548	A	G	SOS2	c.2384+178T>C	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50616548A>G	VUS	1 lab	c103eea8a5
19:13370440 CACNA1A G>A	19	13370440	13370440	G	A	CACNA1A	c.4338C>T	NM_023035.3	NP_075461.2:p.(Tyr1446=)	NC_000019.9:g.13370440G>A	(Likely) benign	1 lab	2c3b4d9b8d
10:112557329 RBM20 A>G	10	112557329	112557329	A	G	RBM20	c.1591A>G	NM_001134363.3	NP_001127835.2:p.(Thr531Ala)	NC_000010.10:g.112557329A>G	VUS	1 lab	2a3ee5c791
4:79360316 FRAS1 A>T	4	79360316	79360316	A	T	FRAS1	c.5529+98A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79360316A>T	(Likely) benign	1 lab	2c3e19824a
4:1801002 FGFR3 G>T	4	1801002	1801002	G	T	FGFR3	c.131G>T	NM_000142.5	NP_000133.1:p.(Gly44Val)	NC_000004.11:g.1801002G>T	(Likely) benign	1 lab	c109a02a9a
4:79462054 FRAS1 G>A	4	79462054	79462054	G	A	FRAS1	c.11815G>A	NM_025074.7	NP_079350.5:p.(Ala3939Thr)	NC_000004.11:g.79462054G>A	(Likely) benign	1 lab	c109bbcd3a
10:29783907 SVIL C>T	10	29783907	29783907	C	T	SVIL	c.3777G>A	NM_021738.3	NP_068506.2:p.(Met1259Ile)	NC_000010.10:g.29783907C>T	VUS	1 lab	c10e7908fc
17:42987516 GFAP C>T	17	42987516	42987516	C	T	GFAP	c.1171+467G>A	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987516C>T	(Likely) benign	1 lab	c10ee79e43
17:44127982 KANSL1 G>A	17	44127982	44127982	G	A	KANSL1	c.1937C>T	NM_015443.4	NP_056258.1:p.(Pro646Leu)	NC_000017.10:g.44127982G>A	VUS	1 lab	c10f4f1fa1
2:239253198 TRAF3IP1 G>A	2	239253198	239253198	G	A	TRAF3IP1	c.1220G>A	NM_015650.4	NP_056465.2:p.(Arg407Gln)	NC_000002.11:g.239253198G>A	VUS	1 lab	c10f816386
16:2214160 TRAF7 T>C	16	2214160	2214160	T	C	TRAF7	c.81+158T>C	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2214160T>C	(Likely) benign	1 lab	c10fbf8181
2:179646988 TTN G>A	2	179646988	179646988	G	A	TTN	c.3331C>T	NM_001267550.2	NP_001254479.2:p.(Pro1111Ser)	NC_000002.11:g.179646988G>A	VUS	1 lab	c1100e337a
7:2581807 BRAT1 A>C	7	2581807	2581807	A	C	BRAT1	c.962T>G	NM_152743.4	NP_689956.2:p.(Leu321Arg)	NC_000007.13:g.2581807A>C	(Likely) benign	1 lab	c1118e75d0
1:22181473 HSPG2 G>T	1	22181473	22181473	G	T	HSPG2	c.6001C>A	NM_005529.7	NP_005520.4:p.(Arg2001=)	NC_000001.10:g.22181473G>T	VUS	1 lab	c1129e0380
6:135751071 AHI1 C>T	6	135751071	135751071	C	T	AHI1	c.2441G>A	NM_001134831.2	NP_001128303.1:p.(Arg814His)	NC_000006.11:g.135751071C>T	VUS	1 lab	c112adbeae
17:42340078 SLC4A1 A>G	17	42340078	42340078	A	G	SLC4A1	c.32T>C	NM_000342.4	NP_000333.1:p.(Met11Thr)	NC_000017.10:g.42340078A>G	VUS	1 lab	c11443ca88
20:57582164 CTSZ C>T	20	57582164	57582164	C	T	CTSZ	c.20G>A	NM_001336.4	NP_001327.2:p.(Gly7Glu)	NC_000020.10:g.57582164C>T	(Likely) benign	1 lab	c1161617bf
15:48808490 FBN1 A>T	15	48808490	48808490	A	T	FBN1	c.1217T>A	NM_000138.5	NP_000129.3:p.(Leu406His)	NC_000015.9:g.48808490A>T	(Likely) benign	1 lab	c1176edba1
7:64004817 ZNF680 AACACAC>A	7	64004817	64004849	AACACAC	A	ZNF680	c.31-13_31-8del	NM_178558.5	NP_848653.2:p.?	NC_000007.13:g.64004844_64004849del	(Likely) benign	1 lab	c1177d5817
20:60903484 LAMA5 G>A	20	60903484	60903484	G	A	LAMA5	c.4465C>T	NM_005560.6	NP_005551.3:p.(Arg1489Cys)	NC_000020.10:g.60903484G>A	VUS	1 lab	c1184aa589
14:23887454 MYH7 G>A	14	23887454	23887454	G	A	MYH7	c.4134C>T	NM_000257.2	NP_000248.2:p.(Asp1378=)	NC_000014.8:g.23887454G>A	(Likely) benign	1 lab	2c3f0306be
9:73250167 TRPM3 G>A	9	73250167	73250167	G	A	TRPM3	c.1592C>T	NM_001366145.2	NP_001353074.1:p.(Pro531Leu)	NC_000009.11:g.73250167G>A	VUS	1 lab	c11d75c59f
10:104416912 TRIM8 C>T	10	104416912	104416912	C	T	TRIM8	c.1457C>T	NM_030912.3	NP_112174.2:p.(Pro486Leu)	NC_000010.10:g.104416912C>T	VUS	1 lab	c11f61d5d8
X:22239822 PHEX C>T	X	22239822	22239822	C	T	PHEX	c.1861C>T	NM_000444.6	NP_000435.3:p.(Gln621Ter)	NC_000023.10:g.22239822C>T	(Likely) pathogenic	1 lab	2a3f3c42f6
11:102991440 DYNC2H1 C>T	11	102991440	102991440	C	T	DYNC2H1	c.1157C>T	NM_001377.3	NP_001368.2:p.(Ser386Phe)	NC_000011.9:g.102991440C>T	VUS	1 lab	c12270c89c
20:62843422 MYT1 T>C	20	62843422	62843422	T	C	MYT1	c.1448T>C	NM_004535.3	NP_004526.1:p.(Val483Ala)	NC_000020.10:g.62843422T>C	VUS	1 lab	c12389d1e3
10:76788644 KAT6B AGAG>A	10	76788644	76788661	AGAG	A	KAT6B	c.4077_4079del	NM_012330.4	NP_036462.2:p.(Glu1368del)	NC_000010.10:g.76788659_76788661del	(Likely) benign	1 lab	c1249a6e3d
17:21319342 KCNJ12 G>A	17	21319342	21319342	G	A	KCNJ12	c.688G>A	NM_021012.5	NP_066292.2:p.(Ala230Thr)	NC_000017.10:g.21319342G>A	VUS	1 lab	c125c31cbe
21:35134260 ITSN1 G>C	21	35134260	35134260	G	C	ITSN1	c.758G>C	NM_003024.3	NP_003015.2:p.(Ser253Thr)	NC_000021.8:g.35134260G>C	VUS	1 lab	c12796ce5d
22:42307361 SHISA8 G>T	22	42307361	42307361	G	T	SHISA8	c.531-8C>A	NM_001207020.3	NP_001193949.1:p.?	NC_000022.10:g.42307361G>T	(Likely) benign	1 lab	c1288b784a
7:44185250 GCK C>T	7	44185250	44185250	C	T	GCK	c.1099G>A	NM_000162.5	NP_000153.1:p.(Val367Met)	NC_000007.13:g.44185250C>T	(Likely) pathogenic	1 lab	c129a374ab
15:27017828 GABRB3 C>A	15	27017828	27017828	C	A	GABRB3	c.172G>T	NM_000814.6	NP_000805.1:p.(Gly58Cys)	NC_000015.9:g.27017828C>A	VUS	1 lab	c12a026a07
19:3633459 PIP5K1C C>CG	19	3633459	3633466	C	CG	PIP5K1C	c.1979dup	NM_012398.3	NP_036530.1:p.(Ala661GlyfsTer81)	NC_000019.9:g.3633466dup	VUS	1 lab	c12a559ba6
X:117809978 DOCK11 T>C	X	117809978	117809978	T	C	DOCK11	c.5279T>C	NM_144658.4	NP_653259.3:p.(Leu1760Ser)	NC_000023.10:g.117809978T>C	VUS	1 lab	c12acef749
9:101984133 ALG2 G>A	9	101984133	101984133	G	A	ALG2	c.44C>T	NM_033087.4	NP_149078.1:p.(Pro15Leu)	NC_000009.11:g.101984133G>A	VUS	1 lab	c12c10bf85
19:17346854 NR2F6 G>C	19	17346854	17346854	G	C	NR2F6	c.394C>G	NM_005234.4	NP_005225.2:p.(Pro132Ala)	NC_000019.9:g.17346854G>C	VUS	1 lab	c12c3d9c87
5:169689843 LCP2 T>C	5	169689843	169689843	T	C	LCP2	c.818+3A>G	NM_005565.5	NP_005556.1:p.?	NC_000005.9:g.169689843T>C	(Likely) benign	1 lab	3376a25a9f
2:209113209 IDH1 G>A	2	209113209	209113209	G	A	IDH1	c.298C>T	NM_005896.4	NP_005887.2:p.(Arg100Ter)	NC_000002.11:g.209113209G>A	VUS	1 lab	c1319c72ff
1:162724471 DDR2 T>A	1	162724471	162724471	T	A	DDR2	c.243T>A	NM_006182.4	NP_006173.2:p.(Asp81Glu)	NC_000001.10:g.162724471T>A	(Likely) benign	1 lab	c1357bb7cd
20:60714187 PSMA7 C>G	20	60714187	60714187	C	G	PSMA7	c.415G>C	NM_002792.4	NP_002783.1:p.(Asp139His)	NC_000020.10:g.60714187C>G	VUS	1 lab	c138204110
X:8434368 VCX3B G>C	X	8434368	8434368	G	C	VCX3B	c.685G>C	NM_001001888.4	NP_001001888.3:p.(Glu229Gln)	NC_000023.10:g.8434368G>C	(Likely) benign	1 lab	c13895e9be
22:50656235 TUBGCP6 C>A	22	50656235	50656235	C	A	TUBGCP6	c.5390G>T	NM_020461.4	NP_065194.3:p.(Arg1797Leu)	NC_000022.10:g.50656235C>A	VUS	1 lab	c1391dc77b
19:5111830 KDM4B C>G	19	5111830	5111830	C	G	KDM4B	c.1115+1001C>G	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5111830C>G	(Likely) benign	1 lab	c13923a83e
4:126411680 FAT4 A>G	4	126411680	126411680	A	G	FAT4	c.13709A>G	NM_001291303.3	NP_001278232.1:p.(Asp4570Gly)	NC_000004.11:g.126411680A>G	VUS	1 lab	c139d124e0
1:152279021 FLG C>A	1	152279021	152279021	C	A	FLG	c.8341G>T	NM_002016.2	NP_002007.1:p.(Asp2781Tyr)	NC_000001.10:g.152279021C>A	(Likely) benign	1 lab	c13a46321f
1:152283815 FLG G>A	1	152283815	152283815	G	A	FLG	c.3547C>T	NM_002016.2	NP_002007.1:p.(Gln1183Ter)	NC_000001.10:g.152283815G>A	VUS	1 lab	c13a580cd5
1:180905659 KIAA1614 C>T	1	180905659	180905659	C	T	KIAA1614	c.2614C>T	NM_020950.2	NP_066001.1:p.(Pro872Ser)	NC_000001.10:g.180905659C>T	(Likely) benign	1 lab	c13b840544
12:23687249 SOX5 A>T	12	23687249	23687249	A	T	SOX5	c.2196T>A	NM_006940.6	NP_008871.3:p.(Asn732Lys)	NC_000012.11:g.23687249A>T	VUS	1 lab	c13c0477bf
11:61544760 MYRF A>G	11	61544760	61544760	A	G	MYRF	c.1615A>G	NM_001127392.3	NP_001120864.1:p.(Ser539Gly)	NC_000011.9:g.61544760A>G	(Likely) benign	1 lab	c13e25375e
19:10103728 COL5A3 G>T	19	10103728	10103728	G	T	COL5A3	c.1765C>A	NM_015719.4	NP_056534.2:p.(Pro589Thr)	NC_000019.9:g.10103728G>T	VUS	1 lab	c141abe05e
22:51159440 SHANK3 C>G	22	51159440	51159440	C	G	SHANK3	c.3404C>G	NM_001372044.2	NP_001358973.1:p.(Thr1135Ser)	NC_000022.10:g.51159440C>G	(Likely) benign	1 lab	c1430f8e54
1:152279975 FLG G>C	1	152279975	152279975	G	C	FLG	c.7387C>G	NM_002016.2	NP_002007.1:p.(His2463Asp)	NC_000001.10:g.152279975G>C	(Likely) benign	1 lab	c1449dad4b
19:5111941 KDM4B C>T	19	5111941	5111941	C	T	KDM4B	c.1115+1112C>T	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5111941C>T	(Likely) benign	1 lab	c144ade2c5
15:89870554 POLG C>T	15	89870554	89870554	C	T	POLG	c.1277G>A	NM_002693.3	NP_002684.1:p.(Gly426Asp)	NC_000015.9:g.89870554C>T	VUS	1 lab	c144e955a2
X:63410709 AMER1 C>T	X	63410709	63410709	C	T	AMER1	c.2458G>A	NM_152424.4	NP_689637.3:p.(Gly820Ser)	NC_000023.10:g.63410709C>T	(Likely) benign	1 lab	c144fea359
17:25972349 LGALS9 G>A	17	25972349	25972349	G	A	LGALS9	c.550G>A	NM_009587.3	NP_033665.1:p.(Val184Met)	NC_000017.10:g.25972349G>A	(Likely) benign	1 lab	c1459a4c7e
2:167162345 SCN9A G>A	2	167162345	167162345	G	A	SCN9A	c.553C>T	NM_001365536.1	NP_001352465.1:p.(Arg185Cys)	NC_000002.11:g.167162345G>A	VUS	1 lab	c1469bd9c4
1:248185875 OR2L5 C>T	1	248185875	248185875	C	T	OR2L5	c.626C>T	NM_001258284.2	NP_001245213.1:p.(Pro209Leu)	NC_000001.10:g.248185875C>T	(Likely) benign	1 lab	c146e9b8c4
1:155451250 ASH1L G>A	1	155451250	155451250	G	A	ASH1L	c.1411C>T	NM_018489.3	NP_060959.2:p.(Arg471Trp)	NC_000001.10:g.155451250G>A	VUS	1 lab	c148d54ad8
22:42605866 TCF20 T>C	22	42605866	42605866	T	C	TCF20	c.5446A>G	NM_001378418.1	NP_001365347.1:p.(Ser1816Gly)	NC_000022.10:g.42605866T>C	VUS	1 lab	c149bb6731
17:7400118 POLR2A C>G	17	7400118	7400118	C	G	POLR2A	c.573C>G	NM_000937.5	NP_000928.1:p.(Ile191Met)	NC_000017.10:g.7400118C>G	VUS	1 lab	c14a599dc2
17:6524149 KIAA0753 T>C	17	6524149	6524149	T	C	KIAA0753	c.1274A>G	NM_014804.3	NP_055619.2:p.(Gln425Arg)	NC_000017.10:g.6524149T>C	(Likely) benign	1 lab	c14add0c34
1:226109996 PYCR2 GGAT>G	1	226109996	226110002	GGAT	G	PYCR2	c.223_225del	NM_013328.4	NP_037460.2:p.(Ile75del)	NC_000001.10:g.226110000_226110002del	VUS	1 lab	c14b540555
1:11290999 MTOR T>C	1	11290999	11290999	T	C	MTOR	c.2762A>G	NM_004958.4	NP_004949.1:p.(Lys921Arg)	NC_000001.10:g.11290999T>C	VUS	1 lab	c14c0ee034
19:11150151 SMARCA4 T>C	19	11150151	11150151	T	C	SMARCA4	c.4171-1832T>C	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11150151T>C	(Likely) benign	1 lab	c151c110e5
X:39923800 BCOR G>T	X	39923800	39923800	G	T	BCOR	c.3291C>A	NM_001123385.2	NP_001116857.1:p.(Asp1097Glu)	NC_000023.10:g.39923800G>T	VUS	1 lab	c153635560
20:60887020 LAMA5 G>A	20	60887020	60887020	G	A	LAMA5	c.9591C>T	NM_005560.6	NP_005551.3:p.(Ala3197=)	NC_000020.10:g.60887020G>A	(Likely) benign	1 lab	c153b266e7
17:41226469 BRCA1 C>G	17	41226469	41226469	C	G	BRCA1	c.4554G>C	NM_007294.4	NP_009225.1:p.(Gln1518His)	NC_000017.10:g.41226469C>G	(Likely) benign	1 lab	c1550cbb8e
19:15298084 NOTCH3 G>A	19	15298084	15298084	G	A	NOTCH3	c.1672C>T	NM_000435.3	NP_000426.2:p.(Arg558Cys)	NC_000019.9:g.15298084G>A	(Likely) pathogenic	1 lab	c1567d0ee9
19:11325234 DOCK6 C>CGAT	19	11325234	11325240	C	CGAT	DOCK6	c.4195_4197dup	NM_020812.4	NP_065863.2:p.(Ile1399dup)	NC_000019.9:g.11325238_11325240dup	VUS	1 lab	c156b2cd55
7:47385793 TNS3 C>T	7	47385793	47385793	C	T	TNS3	c.2443G>A	NM_022748.12	NP_073585.8:p.(Val815Ile)	NC_000007.13:g.47385793C>T	(Likely) benign	1 lab	c157d01485
12:80707337 OTOGL A>G	12	80707337	80707337	A	G	OTOGL	c.3532A>G	NM_001378609.3	NP_001365538.2:p.(Thr1178Ala)	NC_000012.11:g.80707337A>G	VUS	1 lab	c157e6198c
11:43465012 TTC17 A>G	11	43465012	43465012	A	G	TTC17	c.2389A>G	NM_018259.6	NP_060729.2:p.(Met797Val)	NC_000011.9:g.43465012A>G	(Likely) benign	1 lab	c1590f5c47
9:98231371 PTCH1 G>A	9	98231371	98231371	G	A	PTCH1	c.1912C>T	NM_000264.5	NP_000255.2:p.(Arg638Cys)	NC_000009.11:g.98231371G>A	VUS	1 lab	c15b054d82
5:134367205 PITX1 T>C	5	134367205	134367205	T	C	PITX1	c.170-7A>G	NM_002653.5	NP_002644.4:p.?	NC_000005.9:g.134367205T>C	VUS	1 lab	c15b259f04
10:20106126 PLXDC2 T>A	10	20106126	20106126	T	A	PLXDC2	c.112+6T>A	NM_032812.9	NP_116201.7:p.?	NC_000010.10:g.20106126T>A	(Likely) benign	1 lab	c15b65deaa
12:88522719 CEP290 A>T	12	88522719	88522719	A	T	CEP290	c.942+4T>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88522719A>T	(Likely) benign	1 lab	c15c0cfb26
8:144992624 PLEC C>T	8	144992624	144992624	C	T	PLEC	c.11365G>A	NM_201384.3	NP_958786.1:p.(Glu3789Lys)	NC_000008.10:g.144992624C>T	VUS	1 lab	c15c173931
13:42780239 DGKH A>G	13	42780239	42780239	A	G	DGKH	c.2558A>G	NM_178009.5	NP_821077.1:p.(Tyr853Cys)	NC_000013.10:g.42780239A>G	VUS	1 lab	c15d694238
3:188327019 LPP C>T	3	188327019	188327019	C	T	LPP	c.500C>T	NM_005578.5	NP_005569.1:p.(Pro167Leu)	NC_000003.11:g.188327019C>T	(Likely) benign	1 lab	2c4249741b
3:122056432 CSTA C>T	3	122056432	122056432	C	T	CSTA	c.105C>T	NM_005213.4	NP_005204.1:p.(Tyr35=)	NC_000003.11:g.122056432C>T	(Likely) benign	1 lab	2a412fde64
2:3483022 TRAPPC12 C>T	2	3483022	3483022	C	T	TRAPPC12	c.1998C>T	NM_016030.6	NP_057114.5:p.(Tyr666=)	NC_000002.11:g.3483022C>T	(Likely) benign	1 lab	c15fc86d9a
22:18898395 DGCR6 C>T	22	18898395	18898395	C	T	DGCR6	c.373-6C>T	NM_005675.6	NP_005666.2:p.?	NC_000022.10:g.18898395C>T	(Likely) benign	1 lab	c1600dd89e
8:41557149 ANK1 G>A	8	41557149	41557149	G	A	ANK1	c.2462-83C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41557149G>A	(Likely) benign	1 lab	2c4290cd56
X:73740921 SLC16A2 C>CGGG	X	73740921	73740926	C	CGGG	SLC16A2	c.530_532dup	NM_006517.5	NP_006508.2:p.(Gly177dup)	NC_000023.10:g.73740924_73740926dup	(Likely) benign	1 lab	c161f9332c
11:78369543 TENM4 G>T	11	78369543	78369543	G	T	TENM4	c.7870C>A	NM_001098816.3	NP_001092286.2:p.(Pro2624Thr)	NC_000011.9:g.78369543G>T	VUS	1 lab	c16203bfb2
6:146350931 GRM1 C>T	6	146350931	146350931	C	T	GRM1	c.278C>T	NM_001278064.2	NP_001264993.1:p.(Pro93Leu)	NC_000006.11:g.146350931C>T	VUS	1 lab	c163c0795b
8:29043969 KIF13B T>C	8	29043969	29043969	T	C	KIF13B	c.337A>G	NM_015254.4	NP_056069.2:p.(Met113Val)	NC_000008.10:g.29043969T>C	VUS	1 lab	c1690458c0
21:47549137 COL6A2 C>T	21	47549137	47549137	C	T	COL6A2	c.2461+2682C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549137C>T	(Likely) benign	1 lab	c1698ddc58
7:151949698 KMT2C G>C	7	151949698	151949698	G	C	KMT2C	c.1402C>G	NM_170606.3	NP_733751.2:p.(Pro468Ala)	NC_000007.13:g.151949698G>C	(Likely) benign	1 lab	c169b26c07
9:27220042 TEK T>G	9	27220042	27220042	T	G	TEK	c.3104-5T>G	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27220042T>G	VUS	1 lab	c16b2858c8
4:1801040 FGFR3 G>A	4	1801040	1801040	G	A	FGFR3	c.169G>A	NM_000142.5	NP_000133.1:p.(Val57Met)	NC_000004.11:g.1801040G>A	(Likely) benign	1 lab	c16d32fd21
12:42499738 GXYLT1 T>C	12	42499738	42499738	T	C	GXYLT1	c.746A>G	NM_173601.2	NP_775872.1:p.(Glu249Gly)	NC_000012.11:g.42499738T>C	(Likely) benign	1 lab	c16ec5418e
15:23889275 MAGEL2 A>T	15	23889275	23889275	A	T	MAGEL2	c.3615T>A	NM_019066.5	NP_061939.3:p.(His1205Gln)	NC_000015.9:g.23889275A>T	VUS	1 lab	c17044e9e6
19:5131171 KDM4B C>CGGG	19	5131171	5131173	C	CGGG	KDM4B	c.1401_1402insGGG	NM_015015.3	NP_055830.1:p.(Pro467_Pro468insGly)	NC_000019.9:g.5131172_5131173insGGG	(Likely) benign	1 lab	c170872f78
13:36141148 NBEA A>C	13	36141148	36141148	A	C	NBEA	c.7029A>C	NM_015678.4	NP_056493.3:p.(Leu2343=)	NC_000013.10:g.36141148A>C	(Likely) benign	1 lab	2c439cf3a9
7:152113722 KMT2C C>T	7	152113722	152113722	C	T	KMT2C	c.161+18989G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152113722C>T	(Likely) benign	1 lab	c172601047
11:6640051 TPP1 G>A	11	6640051	6640051	G	A	TPP1	c.185C>T	NM_000391.4	NP_000382.3:p.(Ser62Leu)	NC_000011.9:g.6640051G>A	(Likely) benign	1 lab	c1729f50a4
1:202718218 KDM5B T>C	1	202718218	202718218	T	C	KDM5B	c.1871A>G	NM_006618.5	NP_006609.3:p.(Tyr624Cys)	NC_000001.10:g.202718218T>C	VUS	1 lab	c174dd869f
21:35107364 ITSN1 G>A	21	35107364	35107364	G	A	ITSN1	c.201G>A	NM_003024.3	NP_003015.2:p.(Met67Ile)	NC_000021.8:g.35107364G>A	VUS	1 lab	c1755b4841
7:91870435 KRIT1 T>C	7	91870435	91870435	T	C	KRIT1	c.134A>G	NM_194454.3	NP_919436.1:p.(Gln45Arg)	NC_000007.13:g.91870435T>C	VUS	1 lab	c176778703
16:30975596 SETD1A C>G	16	30975596	30975596	C	G	SETD1A	c.821C>G	NM_014712.3	NP_055527.1:p.(Thr274Arg)	NC_000016.9:g.30975596C>G	(Likely) benign	1 lab	c17688f84f
19:49925871 PTH2 C>G	19	49925871	49925871	C	G	PTH2	c.157G>C	NM_178449.4	NP_848544.1:p.(Asp53His)	NC_000019.9:g.49925871C>G	(Likely) benign	1 lab	c177e574b8
6:126075702 HEY2 T>A	6	126075702	126075702	T	A	HEY2	c.328+10T>A	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075702T>A	(Likely) benign	1 lab	c1782e8b11
12:112608227 HECTD4 C>T	12	112608227	112608227	C	T	HECTD4	c.11962G>A	NM_001388303.1	NP_001375232.1:p.(Val3988Met)	NC_000012.11:g.112608227C>T	(Likely) benign	1 lab	c1788b4592
1:155408392 ASH1L G>A	1	155408392	155408392	G	A	ASH1L	c.5554C>T	NM_018489.3	NP_060959.2:p.(Arg1852Ter)	NC_000001.10:g.155408392G>A	(Likely) pathogenic	1 lab	c178aa272c
X:47776014 ZNF81 C>T	X	47776014	47776014	C	T	ZNF81	c.1969C>T	NM_007137.5	NP_009068.2:p.(Arg657Cys)	NC_000023.10:g.47776014C>T	VUS	1 lab	c17bc4428e
13:25458158 CPAP A>G	13	25458158	25458158	A	G	CPAP	c.3767T>C	NM_018451.5	NP_060921.3:p.(Phe1256Ser)	NC_000013.10:g.25458158A>G	VUS	1 lab	c17c0f721e
11:2185580 TH G>A	11	2185580	2185580	G	A	TH	c.1377C>T	NM_000360.4	NP_000351.2:p.(Phe459=)	NC_000011.9:g.2185580G>A	VUS	1 lab	c17c446db6
8:43033287 HGSNAT T>C	8	43033287	43033287	T	C	HGSNAT	c.922T>C	NM_152419.3	NP_689632.2:p.(Phe308Leu)	NC_000008.10:g.43033287T>C	VUS	1 lab	c17c59b1bc
12:32996139 PKP2 A>T	12	32996139	32996139	A	T	PKP2	c.1379-2000T>A	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32996139A>T	(Likely) benign	1 lab	c17c9dbd88
X:44928068 KDM6A T>C	X	44928068	44928068	T	C	KDM6A	c.2080-756T>C	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44928068T>C	(Likely) benign	1 lab	c17e5a270b
1:22156510 HSPG2 G>A	1	22156510	22156510	G	A	HSPG2	c.11746C>T	NM_005529.7	NP_005520.4:p.(Arg3916Cys)	NC_000001.10:g.22156510G>A	VUS	1 lab	c17eb7606d
15:89386810 ACAN G>A	15	89386810	89386810	G	A	ACAN	c.982G>A	NM_001369268.1	NP_001356197.1:p.(Val328Ile)	NC_000015.9:g.89386810G>A	VUS	1 lab	c18017c9ca
12:40629448 LRRK2 C>T	12	40629448	40629448	C	T	LRRK2	c.368C>T	NM_198578.4	NP_940980.4:p.(Thr123Ile)	NC_000012.11:g.40629448C>T	(Likely) benign	1 lab	c1802ec9ce
10:96005821 PLCE1 C>G	10	96005821	96005821	C	G	PLCE1	c.2539C>G	NM_016341.4	NP_057425.3:p.(Pro847Ala)	NC_000010.10:g.96005821C>G	VUS	1 lab	c18104751e
16:1502842 CLCN7 C>T	16	1502842	1502842	C	T	CLCN7	c.1267G>A	NM_001287.6	NP_001278.1:p.(Val423Ile)	NC_000016.9:g.1502842C>T	VUS	1 lab	c194f7d425
19:17085906 CPAMD8 C>CTTAA	19	17085906	17085907	C	CTTAA	CPAMD8	c.2070_2070+1insTTAA	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17085906_17085907insTTAA	VUS	1 lab	c183c90bfa
1:59247318 JUN A>C	1	59247318	59247318	A	C	JUN	c.*429T>G	NM_002228.4	NP_002219.1:p.?	NC_000001.10:g.59247318A>C	VUS	1 lab	c184615110
19:55672059 DNAAF3 C>T	19	55672059	55672059	C	T	DNAAF3	c.997G>A	NM_001256715.2	NP_001243644.1:p.(Asp333Asn)	NC_000019.9:g.55672059C>T	(Likely) benign	1 lab	c184df28cb
X:73962461 NEXMIF A>G	X	73962461	73962461	A	G	NEXMIF	c.1931T>C	NM_001008537.3	NP_001008537.1:p.(Ile644Thr)	NC_000023.10:g.73962461A>G	(Likely) benign	1 lab	c1859b9ee4
5:140998441 DIAPH1 G>A	5	140998441	140998441	G	A	DIAPH1	c.41C>T	NM_005219.5	NP_005210.3:p.(Thr14Ile)	NC_000005.9:g.140998441G>A	(Likely) benign	1 lab	c1883ce4d0
3:25646285 TOP2B ATCTG>A	3	25646285	25646294	ATCTG	A	TOP2B	c.4451_4454del	NM_001330700.2	NP_001317629.1:p.(Thr1484IlefsTer8)	NC_000003.11:g.25646291_25646294del	VUS	1 lab	c18865b73a
10:12129619 DHTKD1 A>C	10	12129619	12129619	A	C	DHTKD1	c.608A>C	NM_018706.7	NP_061176.4:p.(His203Pro)	NC_000010.10:g.12129619A>C	(Likely) benign	1 lab	c18becf77d
X:49961618 AKAP4 C>T	X	49961618	49961618	C	T	AKAP4	c.200G>A	NM_003886.3	NP_003877.2:p.(Gly67Asp)	NC_000023.10:g.49961618C>T	VUS	1 lab	c18dfed03f
2:220432891 OBSL1 C>T	2	220432891	220432891	C	T	OBSL1	c.1168G>A	NM_015311.3	NP_056126.1:p.(Glu390Lys)	NC_000002.11:g.220432891C>T	VUS	1 lab	c18e0b308d
4:2855608 ADD1 G>A	4	2855608	2855608	G	A	ADD1	c.-21+9857G>A	NM_001354761.2	NP_001341690.1:p.?	NC_000004.11:g.2855608G>A	(Likely) benign	1 lab	c19123fc40
19:12821427 TNPO2 G>A	19	12821427	12821427	G	A	TNPO2	c.1270+8C>T	NM_001382241.1	NP_001369170.1:p.?	NC_000019.9:g.12821427G>A	(Likely) benign	1 lab	c193484629
16:30977496 SETD1A C>T	16	30977496	30977496	C	T	SETD1A	c.2294C>T	NM_014712.3	NP_055527.1:p.(Ser765Leu)	NC_000016.9:g.30977496C>T	(Likely) benign	1 lab	c1934cebba
15:62993350 TLN2 G>A	15	62993350	62993350	G	A	TLN2	c.1633G>A	NM_015059.3	NP_055874.2:p.(Glu545Lys)	NC_000015.9:g.62993350G>A	VUS	1 lab	c196333937
7:151933303 KMT2C G>A	7	151933303	151933303	G	A	KMT2C	c.2653-285C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151933303G>A	(Likely) benign	1 lab	c198550d8f
16:1842405 IGFALS G>A	16	1842405	1842405	G	A	IGFALS	c.17-3C>T	NM_004970.3	NP_004961.1:p.?	NC_000016.9:g.1842405G>A	VUS	1 lab	c1987772d1
9:137704379 COL5A1 C>T	9	137704379	137704379	C	T	COL5A1	c.3744+31C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137704379C>T	(Likely) benign	1 lab	2c45bf1982
4:140262148 NAA15 G>A	4	140262148	140262148	G	A	NAA15	c.327G>A	NM_057175.5	NP_476516.1:p.(Trp109Ter)	NC_000004.11:g.140262148G>A	(Likely) pathogenic	1 lab	2a413061eb
6:56501428 DST G>A	6	56501428	56501428	G	A	DST	c.2987C>T	NM_001374736.1	NP_001361665.1:p.(Thr996Met)	NC_000006.11:g.56501428G>A	VUS	1 lab	c19c9ae3d9
14:104040415 COA8 CTTTTTTTTTTTT>C	14	104040415	104040440	CTTTTTTTTTTTT	C	COA8	c.322-15_322-4del	NM_001370595.2	NP_001357524.1:p.?	NC_000014.8:g.104040429_104040440del	(Likely) benign	1 lab	c19d33fd2a
7:100849570 PLOD3 C>T	7	100849570	100849570	C	T	PLOD3	c.2209G>A	NM_001084.5	NP_001075.1:p.(Asp737Asn)	NC_000007.13:g.100849570C>T	VUS	1 lab	c19e028713
1:72058595 NEGR1 A>C	1	72058595	72058595	A	C	NEGR1	c.845T>G	NM_173808.3	NP_776169.2:p.(Leu282Arg)	NC_000001.10:g.72058595A>C	VUS	1 lab	c19e94f45d
15:72190760 MYO9A A>G	15	72190760	72190760	A	G	MYO9A	c.4084T>C	NM_006901.4	NP_008832.2:p.(Ser1362Pro)	NC_000015.9:g.72190760A>G	(Likely) benign	1 lab	c1a0043326
X:14861792 FANCB G>A	X	14861792	14861792	G	A	FANCB	c.2477C>T	NM_001018113.3	NP_001018123.1:p.(Thr826Met)	NC_000023.10:g.14861792G>A	VUS	1 lab	c1a0308cb5
15:78913067 CHRNA3 A>ACAGCAG	15	78913067	78913089	A	ACAGCAG	CHRNA3	c.64_69dup	NM_000743.5	NP_000734.2:p.(Leu22_Leu23dup)	NC_000015.9:g.78913084_78913089dup	VUS	1 lab	c1a13acd59
1:902002 PLEKHN1 G>A	1	902002	902002	G	A	PLEKHN1	c.83+8G>A	NM_032129.3	NP_115505.2:p.?	NC_000001.10:g.902002G>A	(Likely) benign	1 lab	c1a19407c3
20:43034851 HNF4A A>G	20	43034851	43034851	A	G	HNF4A	c.269A>G	NM_000457.5	NP_000448.3:p.(Lys90Arg)	NC_000020.10:g.43034851A>G	VUS	1 lab	c1a1d3569c
16:29811268 KIF22 G>T	16	29811268	29811268	G	T	KIF22	c.1179G>T	NM_007317.3	NP_015556.1:p.(Leu393Phe)	NC_000016.9:g.29811268G>T	(Likely) benign	1 lab	c1a247fab0
9:140002982 MAN1B1 G>C	9	140002982	140002982	G	C	MAN1B1	c.2039G>C	NM_016219.5	NP_057303.2:p.(Ser680Thr)	NC_000009.11:g.140002982G>C	VUS	1 lab	c1a78baf4f
7:99817715 LOC129998919 C>T	7	99817715	99817715	C	T	LOC129998919				NC_000007.13:g.99817715C>T	VUS	1 lab	2a48fa20a3
11:67377048 NDUFV1 C>T	11	67377048	67377048	C	T	NDUFV1	c.452C>T	NM_007103.4	NP_009034.2:p.(Ala151Val)	NC_000011.9:g.67377048C>T	VUS	1 lab	c1a85ce692
8:97157120 GDF6 C>T	8	97157120	97157120	C	T	GDF6	c.1039G>A	NM_001001557.4	NP_001001557.1:p.(Gly347Ser)	NC_000008.10:g.97157120C>T	(Likely) benign	1 lab	c1a8826826
2:26950867 KCNK3 G>T	2	26950867	26950867	G	T	KCNK3	c.616G>T	NM_002246.3	NP_002237.1:p.(Val206Leu)	NC_000002.11:g.26950867G>T	(Likely) pathogenic	1 lab	2a49aecc34
1:85733670 BCL10 A>G	1	85733670	85733670	A	G	BCL10	c.347-5T>C	NM_003921.5	NP_003912.1:p.?	NC_000001.10:g.85733670A>G	(Likely) benign	1 lab	c1ab856821
2:233409610 CHRNG A>G	2	233409610	233409610	A	G	CHRNG	c.1378A>G	NM_005199.5	NP_005190.4:p.(Asn460Asp)	NC_000002.11:g.233409610A>G	(Likely) benign	1 lab	c1ab8c69ce
10:134692997 CFAP46 G>A	10	134692997	134692997	G	A	CFAP46	c.3938C>T	NM_001200049.3	NP_001186978.2:p.(Ser1313Leu)	NC_000010.10:g.134692997G>A	(Likely) benign	1 lab	c1acac64b8
12:48369818 COL2A1 A>T	12	48369818	48369818	A	T	COL2A1	c.3525T>A	NM_001844.5	NP_001835.3:p.(Asp1175Glu)	NC_000012.11:g.48369818A>T	VUS	1 lab	c1aeadc9cb
12:51108168 DIP2B A>G	12	51108168	51108168	A	G	DIP2B	c.2650-10A>G	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51108168A>G	(Likely) benign	1 lab	c1b10c1c45
16:2155433 PKD1 G>A	16	2155433	2155433	G	A	PKD1	c.7906C>T	NM_001009944.3	NP_001009944.3:p.(Arg2636Trp)	NC_000016.9:g.2155433G>A	VUS	1 lab	c1b6a8e10c
3:14489313 SLC6A6 C>T	3	14489313	14489313	C	T	SLC6A6	c.588C>T	NM_003043.6	NP_003034.2:p.(Ile196=)	NC_000003.11:g.14489313C>T	VUS	1 lab	c1b773828f
15:75648546 MAN2C1 G>GGGGCTGCTCTC	15	75648546	75648557	G	GGGGCTGCTCTC	MAN2C1	c.2890_2900dup	NM_006715.4	NP_006706.2:p.(Gln968ArgfsTer11)	NC_000015.9:g.75648547_75648557dup	VUS	1 lab	c1b7b08a82
2:238249394 COL6A3 G>A	2	238249394	238249394	G	A	COL6A3	c.8165C>T	NM_004369.4	NP_004360.2:p.(Thr2722Ile)	NC_000002.11:g.238249394G>A	VUS	1 lab	c1b8713f9d
7:70159321 AUTS2 G>GCC	7	70159321	70159323	G	GCC	AUTS2	c.691-4233_691-4232dup	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70159322_70159323dup	(Likely) benign	1 lab	c1b9411dd1
2:216251449 FN1 T>C	2	216251449	216251449	T	C	FN1	c.4575A>G	NM_212482.4	NP_997647.2:p.(Arg1525=)	NC_000002.11:g.216251449T>C	VUS	1 lab	c1bad9e0a2
11:65479730 KAT5 G>A	11	65479730	65479730	G	A	KAT5	c.-9G>A	NM_182710.3	NP_874369.1:p.?	NC_000011.9:g.65479730G>A	(Likely) benign	1 lab	c1bc1650a8
1:27121714 PIGV A>G	1	27121714	27121714	A	G	PIGV	c.1189A>G	NM_017837.4	NP_060307.2:p.(Met397Val)	NC_000001.10:g.27121714A>G	VUS	1 lab	c1bd54984f
11:76877172 MYO7A G>C	11	76877172	76877172	G	C	MYO7A	c.1761G>C	NM_000260.4	NP_000251.3:p.(Lys587Asn)	NC_000011.9:g.76877172G>C	VUS	1 lab	c1c1c75612
4:123188118 BLTP1 CTT>C	4	123188118	123188122	CTT	C	BLTP1	c.7493+8_7493+9del	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123188121_123188122del	VUS	1 lab	c1c8c05f5a
11:45832838 SLC35C1 G>A	11	45832838	45832838	G	A	SLC35C1	c.1047G>A	NM_018389.4	NP_060859.4:p.(Pro349=)	NC_000011.9:g.45832838G>A	(Likely) benign	1 lab	2c4ba6c0df
5:149457830 CSF1R C>T	5	149457830	149457830	C	T	CSF1R	c.593-19G>A	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149457830C>T	(Likely) benign	1 lab	c1caa15520
7:100282999 GIGYF1 T>G	7	100282999	100282999	T	G	GIGYF1	c.1160A>C	NM_001375765.1	NP_001362694.1:p.(Glu387Ala)	NC_000007.13:g.100282999T>G	(Likely) benign	1 lab	c1cad2dc02
21:47545535 COL6A2 A>C	21	47545535	47545535	A	C	COL6A2	c.1969+4A>C	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47545535A>C	(Likely) benign	1 lab	c1cb181db5
11:62294721 AHNAK CTG>C	11	62294721	62294723	CTG	C	AHNAK	c.7166_7167del	NM_001620.3	NP_001611.1:p.(Pro2389ArgfsTer27)	NC_000011.9:g.62294722_62294723del	(Likely) benign	1 lab	c1cbb7a37c
7:24758852 GSDME C>T	7	24758852	24758852	C	T	GSDME	c.405-15G>A	NM_004403.3	NP_004394.1:p.?	NC_000007.13:g.24758852C>T	(Likely) benign	1 lab	2a4a88e778
19:40743996 AKT2 C>G	19	40743996	40743996	C	G	AKT2	c.711G>C	NM_001626.6	NP_001617.1:p.(Leu237=)	NC_000019.9:g.40743996C>G	(Likely) benign	1 lab	c1cdff04ce
15:99434786 IGF1R C>T	15	99434786	99434786	C	T	IGF1R	c.873C>T	NM_000875.5	NP_000866.1:p.(Ser291=)	NC_000015.9:g.99434786C>T	(Likely) benign	1 lab	c1cf5e04e6
12:7343123 PEX5 GA>G	12	7343123	7343124	GA	G	PEX5	c.147+4del	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7343124del	VUS	1 lab	c1d0ce17a4
15:72668249 HEXA G>A	15	72668249	72668249	G	A	HEXA	c.65C>T	NM_000520.6	NP_000511.2:p.(Ala22Val)	NC_000015.9:g.72668249G>A	VUS	1 lab	c1d1b95233
12:113742116 SLC8B1 G>A	12	113742116	113742116	G	A	SLC8B1	c.1557+10C>T	NM_001358345.2	NP_001345274.1:p.?	NC_000012.11:g.113742116G>A	(Likely) benign	1 lab	c1d1f3fb78
X:50053750 CCNB3 G>A	X	50053750	50053750	G	A	CCNB3	c.2581G>A	NM_033031.3	NP_149020.2:p.(Ala861Thr)	NC_000023.10:g.50053750G>A	VUS	1 lab	c1d26b05e4
20:56083763 CTCFL G>C	20	56083763	56083763	G	C	CTCFL	c.1573C>G	NM_001386993.1	NP_001373922.1:p.(Gln525Glu)	NC_000020.10:g.56083763G>C	(Likely) benign	1 lab	c1d34dda5a
4:6279339 WFS1 G>C	4	6279339	6279339	G	C	WFS1	c.157G>C	NM_006005.3	NP_005996.2:p.(Gly53Arg)	NC_000004.11:g.6279339G>C	VUS	1 lab	c1d3c03a73
X:153008911 ABCD1 C>T	X	153008911	153008911	C	T	ABCD1	c.1992-32C>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153008911C>T	(Likely) benign	1 lab	2c4d7a05e6
2:179632724 TTN A>G	2	179632724	179632724	A	G	TTN	c.9305+17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179632724A>G	(Likely) benign	1 lab	c1d7287866
10:76602977 KAT6B C>T	10	76602977	76602977	C	T	KAT6B	c.362C>T	NM_012330.4	NP_036462.2:p.(Pro121Leu)	NC_000010.10:g.76602977C>T	(Likely) benign	1 lab	c1d7bdd177
19:36213265 KMT2B G>T	19	36213265	36213265	G	T	KMT2B	c.2462G>T	NM_014727.3	NP_055542.1:p.(Ser821Ile)	NC_000019.9:g.36213265G>T	(Likely) benign	1 lab	c1d821f249
18:63530140 CDH7 C>T	18	63530140	63530140	C	T	CDH7	c.1851C>T	NM_004361.5	NP_004352.2:p.(Val617=)	NC_000018.9:g.63530140C>T	(Likely) benign	1 lab	c1d89963bd
8:116426990 TRPS1 T>C	8	116426990	116426990	T	C	TRPS1	c.3146A>G	NM_014112.5	NP_054831.2:p.(His1049Arg)	NC_000008.10:g.116426990T>C	VUS	1 lab	c1d9f68516
20:62305406 RTEL1 T>C	20	62305406	62305406	T	C	RTEL1	c.879T>C	NM_001283009.2	NP_001269938.1:p.(Gly293=)	NC_000020.10:g.62305406T>C	(Likely) benign	1 lab	c1dc26d486
19:15290896 NOTCH3 C>G	19	15290896	15290896	C	G	NOTCH3	c.3314G>C	NM_000435.3	NP_000426.2:p.(Gly1105Ala)	NC_000019.9:g.15290896C>G	(Likely) benign	1 lab	c1ddcabdf5
19:15295165 NOTCH3 G>A	19	15295165	15295165	G	A	NOTCH3	c.2507C>T	NM_000435.3	NP_000426.2:p.(Thr836Ile)	NC_000019.9:g.15295165G>A	(Likely) benign	1 lab	c1deeee714
4:174450151 HAND2 G>C	4	174450151	174450151	G	C	HAND2	c.290C>G	NM_021973.3	NP_068808.1:p.(Pro97Arg)	NC_000004.11:g.174450151G>C	VUS	1 lab	c1e060368a
18:67807425 RTTN C>T	18	67807425	67807425	C	T	RTTN	c.2582-1G>A	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67807425C>T	VUS	1 lab	c1e105c82c
1:57489239 DAB1 C>T	1	57489239	57489239	C	T	DAB1	c.860G>A	NM_001365792.1	NP_001352721.1:p.(Ser287Asn)	NC_000001.10:g.57489239C>T	(Likely) benign	1 lab	c1e11a4b19
4:5798826 EVC C>T	4	5798826	5798826	C	T	EVC	c.1964C>T	NM_153717.3	NP_714928.1:p.(Ala655Val)	NC_000004.11:g.5798826C>T	VUS	1 lab	c1e1c323d4
16:2167589 PKD1 C>A	16	2167589	2167589	C	A	PKD1	c.1286G>T	NM_001009944.3	NP_001009944.3:p.(Trp429Leu)	NC_000016.9:g.2167589C>A	(Likely) pathogenic	1 lab	c1e279a54a
4:1343514 UVSSA C>T	4	1343514	1343514	C	T	UVSSA	c.301C>T	NM_020894.4	NP_065945.2:p.(Pro101Ser)	NC_000004.11:g.1343514C>T	VUS	1 lab	c1e346cfe4
7:65445354 GUSB C>G	7	65445354	65445354	C	G	GUSB	c.253G>C	NM_000181.4	NP_000172.2:p.(Asp85His)	NC_000007.13:g.65445354C>G	VUS	1 lab	c1e3c6e507
5:176721771 NSD1 C>T	5	176721771	176721771	C	T	NSD1	c.7402C>T	NM_022455.5	NP_071900.2:p.(Arg2468Trp)	NC_000005.9:g.176721771C>T	VUS	1 lab	c1e3d82c4c
3:9489632 SETD5 T>C	3	9489632	9489632	T	C	SETD5	c.2045T>C	NM_001080517.3	NP_001073986.1:p.(Val682Ala)	NC_000003.11:g.9489632T>C	VUS	1 lab	c1e4c2468b
11:126301344 KIRREL3 C>T	11	126301344	126301344	C	T	KIRREL3	c.1666G>A	NM_032531.4	NP_115920.1:p.(Val556Met)	NC_000011.9:g.126301344C>T	VUS	1 lab	c1e52820ff
1:155340677 ASH1L G>A	1	155340677	155340677	G	A	ASH1L	c.6430C>T	NM_018489.3	NP_060959.2:p.(Arg2144Ter)	NC_000001.10:g.155340677G>A	VUS	1 lab	c1e636dea9
2:166032862 SCN3A G>A	2	166032862	166032862	G	A	SCN3A	c.43C>T	NM_006922.4	NP_008853.3:p.(Arg15Cys)	NC_000002.11:g.166032862G>A	VUS	1 lab	c1e8f068f7
1:22838442 ZBTB40 G>A	1	22838442	22838442	G	A	ZBTB40	c.2276G>A	NM_014870.4	NP_055685.3:p.(Arg759Gln)	NC_000001.10:g.22838442G>A	VUS	1 lab	c1eae90b50
5:114861259 FEM1C C>T	5	114861259	114861259	C	T	FEM1C	c.600G>A	NM_020177.3	NP_064562.1:p.(Met200Ile)	NC_000005.9:g.114861259C>T	VUS	1 lab	c1ec997dd9
9:139417539 NOTCH1 T>C	9	139417539	139417539	T	C	NOTCH1	c.505A>G	NM_017617.5	NP_060087.3:p.(Ser169Gly)	NC_000009.11:g.139417539T>C	(Likely) benign	1 lab	c1eca87e98
16:69373442 COG8 G>A	16	69373442	69373442	G	A	COG8	c.14C>T	NM_032382.5	NP_115758.3:p.(Ala5Val)	NC_000016.9:g.69373442G>A	(Likely) benign	1 lab	c1ed8de32e
2:179439654 TTN T>TTTGA	2	179439654	179439661	T	TTTGA	TTN	c.71201_71204dup	NM_001267550.2	NP_001254479.2:p.(Lys23735AsnfsTer4)	NC_000002.11:g.179439658_179439661dup	(Likely) pathogenic	1 lab	2a4cff1de7
11:597477 PHRF1 A>G	11	597477	597477	A	G	PHRF1	c.801A>G	NM_001286581.2	NP_001273510.1:p.(Ala267=)	NC_000011.9:g.597477A>G	(Likely) benign	1 lab	c1ee1b6d93
1:22832675 ZBTB40 C>G	1	22832675	22832675	C	G	ZBTB40	c.1301C>G	NM_014870.4	NP_055685.3:p.(Pro434Arg)	NC_000001.10:g.22832675C>G	VUS	1 lab	c1ee58c5b7
2:179429809 TTN G>A	2	179429809	179429809	G	A	TTN	c.81050C>T	NM_001267550.2	NP_001254479.2:p.(Thr27017Ile)	NC_000002.11:g.179429809G>A	VUS	1 lab	c1ee60f69a
3:139077086 COPB2 TAGG>T	3	139077086	139077091	TAGG	T	COPB2	c.2578_2580del	NM_004766.3	NP_004757.1:p.(Pro860del)	NC_000003.11:g.139077089_139077091del	VUS	1 lab	c1eedce516
9:141014611 CACNA1B C>T	9	141014611	141014611	C	T	CACNA1B	c.6031-6C>T	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.141014611C>T	(Likely) benign	1 lab	c1efe41d4c
16:16043661 ABCC1 G>A	16	16043661	16043661	G	A	ABCC1	c.48+5G>A	NM_004996.4	NP_004987.2:p.?	NC_000016.9:g.16043661G>A	VUS	1 lab	c1f210c42b
11:58920220 FAM111A T>A	11	58920220	58920220	T	A	FAM111A	c.1079T>A	NM_001312909.2	NP_001299838.1:p.(Leu360Ter)	NC_000011.9:g.58920220T>A	VUS	1 lab	c1f3f77442
15:75682114 SIN3A C>T	15	75682114	75682114	C	T	SIN3A	c.2900G>A	NM_001145358.2	NP_001138830.1:p.(Arg967Gln)	NC_000015.9:g.75682114C>T	(Likely) benign	1 lab	c1f4a42bd4
17:10298503 MYH8 G>T	17	10298503	10298503	G	T	MYH8	c.4909C>A	NM_002472.3	NP_002463.2:p.(Arg1637Ser)	NC_000017.10:g.10298503G>T	VUS	1 lab	c1f4cbbfa2
12:122252492 SETD1B G>T	12	122252492	122252492	G	T	SETD1B	c.2371G>T	NM_001353345.2	NP_001340274.1:p.(Ala791Ser)	NC_000012.11:g.122252492G>T	VUS	1 lab	c1f645af21
13:35716482 NBEA G>C	13	35716482	35716482	G	C	NBEA	c.2413G>C	NM_015678.5	NP_056493.3:p.(Val805Leu)	NC_000013.10:g.35716482G>C	VUS	1 lab	2a530738da
7:34101664 BMPER G>A	7	34101664	34101664	G	A	BMPER	c.1078+5G>A	NM_133468.5	NP_597725.1:p.?	NC_000007.13:g.34101664G>A	(Likely) pathogenic	1 lab	2a545b454a
19:54725756 LILRB3 G>A	19	54725756	54725756	G	A	LILRB3	c.1310-2642C>T	NM_006864.4	NP_006855.3:p.?	NC_000019.9:g.54725756G>A	(Likely) benign	1 lab	c1f8775ec2
4:79387435 FRAS1 A>G	4	79387435	79387435	A	G	FRAS1	c.7103A>G	NM_025074.7	NP_079350.5:p.(His2368Arg)	NC_000004.11:g.79387435A>G	(Likely) benign	1 lab	c1f9a91ee7
4:170641097 CLCN3 G>T	4	170641097	170641097	G	T	CLCN3	c.2406G>T	NM_001829.4	NP_001820.2:p.(Arg802=)	NC_000004.11:g.170641097G>T	VUS	1 lab	c1faa4742a
7:44185294 GCK A>G	7	44185294	44185294	A	G	GCK	c.1055T>C	NM_000162.5	NP_000153.1:p.(Leu352Pro)	NC_000007.13:g.44185294A>G	(Likely) pathogenic	1 lab	c1fb127803
19:12921149 RNASEH2A G>A	19	12921149	12921149	G	A	RNASEH2A	c.568G>A	NM_006397.3	NP_006388.2:p.(Val190Met)	NC_000019.9:g.12921149G>A	VUS	1 lab	c1fb7faf7a
14:105415889 AHNAK2 C>T	14	105415889	105415889	C	T	AHNAK2	c.5899G>A	NM_138420.4	NP_612429.2:p.(Gly1967Ser)	NC_000014.8:g.105415889C>T	(Likely) benign	1 lab	c1fcf4f3e1
1:223177605 DISP1 A>T	1	223177605	223177605	A	T	DISP1	c.2866A>T	NM_001377229.1	NP_001364158.1:p.(Ser956Cys)	NC_000001.10:g.223177605A>T	VUS	1 lab	c1fd22a38f
2:71909651 DYSF C>T	2	71909651	71909651	C	T	DYSF	c.6174-9C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71909651C>T	(Likely) benign	1 lab	c208d2755b
12:132313098 MMP17 G>GGCTGCCGCT	12	132313098	132313109	G	GGCTGCCGCT	MMP17	c.62_70dup	NM_016155.7	NP_057239.4:p.(Leu21_Leu23dup)	NC_000012.11:g.132313101_132313109dup	VUS	1 lab	c1fd9ed688
7:143043761 CLCN1 G>A	7	143043761	143043761	G	A	CLCN1	c.2364+10G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043761G>A	(Likely) benign	1 lab	c1fdba4c89
18:19751703 GATA6 G>A	18	19751703	19751703	G	A	GATA6	c.598G>A	NM_005257.6	NP_005248.2:p.(Gly200Ser)	NC_000018.9:g.19751703G>A	VUS	1 lab	c200a34118
1:10684413 PEX14 G>A	1	10684413	10684413	G	A	PEX14	c.504G>A	NM_004565.3	NP_004556.1:p.(Thr168=)	NC_000001.10:g.10684413G>A	(Likely) benign	1 lab	c200aa4a20
12:115120991 TBX3 C>CA	12	115120991	115120992	C	CA	TBX3	c.14dup	NM_005996.4	NP_005987.3:p.(Met5IlefsTer106)	NC_000012.11:g.115120992dup	VUS	1 lab	c20125ff8a
8:12286139 FAM86B2 T>A	8	12286139	12286139	T	A	FAM86B2	c.742+3A>T	NM_001137610.3	NP_001131082.1:p.?	NC_000008.10:g.12286139T>A	(Likely) benign	1 lab	c2030b7c18
11:65294542 SCYL1 T>C	11	65294542	65294542	T	C	SCYL1	c.803T>C	NM_020680.4	NP_065731.3:p.(Met268Thr)	NC_000011.9:g.65294542T>C	(Likely) benign	1 lab	c203dbc2cc
4:88989110 PKD2 C>T	4	88989110	88989110	C	T	PKD2	c.2419C>T	NM_000297.4	NP_000288.1:p.(Arg807Ter)	NC_000004.11:g.88989110C>T	(Likely) pathogenic	1 lab	c2046480da
5:1798922 MRPL36 T>TC	5	1798922	1798924	T	TC	MRPL36	c.127dup	NM_032479.4	NP_115868.1:p.(Glu43GlyfsTer31)	NC_000005.9:g.1798924dup	VUS	1 lab	c20519999f
3:126733402 PLXNA1 G>T	3	126733402	126733402	G	T	PLXNA1	c.2686G>T	NM_032242.4	NP_115618.3:p.(Val896Leu)	NC_000003.11:g.126733402G>T	(Likely) benign	1 lab	c20650595b
12:994862 WNK1 C>T	12	994862	994862	C	T	WNK1	c.4892C>T	NM_018979.4	NP_061852.3:p.(Pro1631Leu)	NC_000012.11:g.994862C>T	(Likely) benign	1 lab	c207458d67
3:111319699 CD96 T>C	3	111319699	111319699	T	C	CD96	c.1025T>C	NM_005816.5	NP_005807.1:p.(Leu342Pro)	NC_000003.11:g.111319699T>C	(Likely) benign	1 lab	c2080c5977
9:131355266 SPTAN1 C>T	9	131355266	131355266	C	T	SPTAN1	c.3160C>T	NM_001130438.3	NP_001123910.1:p.(Arg1054Cys)	NC_000009.11:g.131355266C>T	(Likely) benign	1 lab	c20840e934
X:147024700 FMR1 G>A	X	147024700	147024700	G	A	FMR1	c.1325G>A	NM_002024.6	NP_002015.1:p.(Arg442Gln)	NC_000023.10:g.147024700G>A	VUS	1 lab	c209253374
5:37199052 CPLANE1 A>AG	5	37199052	37199053	A	AG	CPLANE1	c.3508-85dup	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37199053dup	(Likely) benign	1 lab	2c576b2787
2:72945368 EXOC6B C>T	2	72945368	72945368	C	T	EXOC6B	c.533G>A	NM_015189.3	NP_056004.1:p.(Arg178Gln)	NC_000002.11:g.72945368C>T	VUS	1 lab	c20a811028
X:70331341 IL2RG G>T	X	70331341	70331341	G	T	IL2RG	c.49C>A	NM_000206.3	NP_000197.1:p.(Pro17Thr)	NC_000023.10:g.70331341G>T	VUS	1 lab	c20af1b7fd
22:21083797 PI4KA G>C	22	21083797	21083797	G	C	PI4KA	c.4489-3C>G	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21083797G>C	VUS	1 lab	c20b1a3fc8
2:219824546 CDK5R2 G>A	2	219824546	219824546	G	A	CDK5R2	c.4G>A	NM_003936.5	NP_003927.1:p.(Gly2Ser)	NC_000002.11:g.219824546G>A	VUS	1 lab	c20b725c4c
5:140751866 PCDHGA1 G>T	5	140751866	140751866	G	T	PCDHGA1	c.2421+39194G>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140751866G>T	VUS	1 lab	c20cffa80a
8:57890687 BPNT2 C>T	8	57890687	57890687	C	T	BPNT2	c.568G>A	NM_017813.5	NP_060283.3:p.(Val190Ile)	NC_000008.10:g.57890687C>T	VUS	1 lab	c20db138d7
8:11606486 GATA4 C>T	8	11606486	11606486	C	T	GATA4	c.678C>T	NM_001308093.3	NP_001295022.1:p.(Thr226=)	NC_000008.10:g.11606486C>T	(Likely) benign	1 lab	c20fd48864
17:4802340 CHRNE T>A	17	4802340	4802340	T	A	CHRNE	c.1282A>T	NM_000080.4	NP_000071.1:p.(Asn428Tyr)	NC_000017.10:g.4802340T>A	VUS	1 lab	c2104c3874
15:80800500 ARNT2 G>A	15	80800500	80800500	G	A	ARNT2	c.626G>A	NM_014862.4	NP_055677.3:p.(Arg209Gln)	NC_000015.9:g.80800500G>A	VUS	1 lab	c2110eccbf
17:46629778 HOXB3 G>A	17	46629778	46629778	G	A	HOXB3	c.59C>T	NM_001384749.1	NP_001371678.1:p.(Ser20Leu)	NC_000017.10:g.46629778G>A	(Likely) benign	1 lab	c2111515f4
16:1500644 CLCN7 C>T	16	1500644	1500644	C	T	CLCN7	c.1471G>A	NM_001287.6	NP_001278.1:p.(Gly491Ser)	NC_000016.9:g.1500644C>T	(Likely) benign	1 lab	c2119864fb
20:17950772 MGME1 A>G	20	17950772	17950772	A	G	MGME1	c.270A>G	NM_052865.4	NP_443097.1:p.(Gln90=)	NC_000020.10:g.17950772A>G	(Likely) benign	1 lab	c212ef461a
5:176638261 NSD1 A>C	5	176638261	176638261	A	C	NSD1	c.2861A>C	NM_022455.5	NP_071900.2:p.(Lys954Thr)	NC_000005.9:g.176638261A>C	(Likely) benign	1 lab	c2167070dd
15:82519921 EFL1 C>G	15	82519921	82519921	C	G	EFL1	c.1070-8G>C	NM_024580.6	NP_078856.4:p.?	NC_000015.9:g.82519921C>G	(Likely) benign	1 lab	c216b0ec42
21:27326932 APP T>C	21	27326932	27326932	T	C	APP	c.1659A>G	NM_000484.4	NP_000475.1:p.(Ala553=)	NC_000021.8:g.27326932T>C	VUS	1 lab	c216ec26a7
1:22169334 HSPG2 C>T	1	22169334	22169334	C	T	HSPG2	c.8839G>A	NM_005529.7	NP_005520.4:p.(Val2947Met)	NC_000001.10:g.22169334C>T	(Likely) benign	1 lab	c2181d4a69
21:45389072 AGPAT3 T>C	21	45389072	45389072	T	C	AGPAT3	c.422T>C	NM_020132.5	NP_064517.1:p.(Ile141Thr)	NC_000021.8:g.45389072T>C	VUS	1 lab	c21878f66a
7:96635418 DLX6 A>ACAG	7	96635418	96635422	A	ACAG	DLX6	c.131_133dup	NM_005222.4	NP_005213.3:p.(Gln44dup)	NC_000007.13:g.96635420_96635422dup	(Likely) benign	1 lab	2a55e30be5
X:147019672 FMR1 G>A	X	147019672	147019672	G	A	FMR1	c.1180G>A	NM_002024.6	NP_002015.1:p.(Ala394Thr)	NC_000023.10:g.147019672G>A	VUS	1 lab	c21fd2f047
11:122955263 CLMP A>T	11	122955263	122955263	A	T	CLMP	c.345T>A	NM_024769.5	NP_079045.1:p.(Asn115Lys)	NC_000011.9:g.122955263A>T	VUS	1 lab	c220807ea3
19:39057625 RYR1 C>G	19	39057625	39057625	C	G	RYR1	c.13512C>G	NM_000540.3	NP_000531.2:p.(Ala4504=)	NC_000019.9:g.39057625C>G	(Likely) benign	1 lab	c2217b9b51
11:62291354 AHNAK A>G	11	62291354	62291354	A	G	AHNAK	c.10535T>C	NM_001620.3	NP_001611.1:p.(Ile3512Thr)	NC_000011.9:g.62291354A>G	(Likely) benign	1 lab	c221e72a85
12:121434165 HNF1A C>T	12	121434165	121434165	C	T	HNF1A	c.1056C>T	NM_000545.8	NP_000536.6:p.(Ser352=)	NC_000012.11:g.121434165C>T	(Likely) benign	1 lab	c221f82d0c
16:18542848 NOMO2 C>T	16	18542848	18542848	C	T	NOMO2	c.1477G>A	NM_173614.4	NP_775885.1:p.(Val493Met)	NC_000016.9:g.18542848C>T	(Likely) benign	1 lab	c222367657
11:101918634 CFAP300 A>G	11	101918634	101918634	A	G	CFAP300	c.192+7A>G	NM_032930.3	NP_116319.2:p.?	NC_000011.9:g.101918634A>G	VUS	1 lab	c224694f75
17:40831675 CCR10 T>C	17	40831675	40831675	T	C	CCR10	c.985A>G	NM_016602.3	NP_057686.2:p.(Ser329Gly)	NC_000017.10:g.40831675T>C	(Likely) benign	1 lab	c2264e949a
15:89381936 ACAN C>T	15	89381936	89381936	C	T	ACAN	c.113C>T	NM_001369268.1	NP_001356197.1:p.(Pro38Leu)	NC_000015.9:g.89381936C>T	(Likely) benign	1 lab	c22973b2bb
10:6067969 IL2RA C>T	10	6067969	6067969	C	T	IL2RA	c.84G>A	NM_000417.3	NP_000408.1:p.(Pro28=)	NC_000010.10:g.6067969C>T	(Likely) benign	1 lab	c229e3fb5f
4:178256920 NEIL3 G>C	4	178256920	178256920	G	C	NEIL3	c.357G>C	NM_018248.3	NP_060718.3:p.(Leu119Phe)	NC_000004.11:g.178256920G>C	(Likely) benign	1 lab	c22aeba18c
1:180235729 LHX4 G>C	1	180235729	180235729	G	C	LHX4	c.451G>C	NM_033343.4	NP_203129.1:p.(Asp151His)	NC_000001.10:g.180235729G>C	(Likely) benign	1 lab	c22d8189bd
19:55672096 DNAAF3 G>C	19	55672096	55672096	G	C	DNAAF3	c.960C>G	NM_001256715.2	NP_001243644.1:p.(Asp320Glu)	NC_000019.9:g.55672096G>C	VUS	1 lab	c22e20468d
12:96181214 NTN4 A>G	12	96181214	96181214	A	G	NTN4	c.88T>C	NM_021229.4	NP_067052.2:p.(Cys30Arg)	NC_000012.11:g.96181214A>G	VUS	1 lab	c23001e275
2:29006372 PPP1CB T>C	2	29006372	29006372	T	C	PPP1CB	c.521-401T>C	NM_002709.3	NP_002700.1:p.?	NC_000002.11:g.29006372T>C	(Likely) benign	1 lab	c2302613c5
2:158980394 UPP2 CTG>C	2	158980394	158980398	CTG	C	UPP2	c.801_802del	NM_173355.4	NP_775491.1:p.(Cys267TrpfsTer18)	NC_000002.11:g.158980397_158980398del	(Likely) benign	1 lab	c2303dbcee
1:197071224 ASPM T>C	1	197071224	197071224	T	C	ASPM	c.7157A>G	NM_018136.5	NP_060606.3:p.(His2386Arg)	NC_000001.10:g.197071224T>C	(Likely) benign	1 lab	c230d1d718
5:86669979 RASA1 G>T	5	86669979	86669979	G	T	RASA1	c.1777-1G>T	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86669979G>T	(Likely) benign	1 lab	c23201401a
19:10225071 P2RY11 A>G	19	10225071	10225071	A	G	P2RY11	c.782A>G	NM_002566.5	NP_002557.2:p.(Tyr261Cys)	NC_000019.9:g.10225071A>G	(Likely) benign	1 lab	c2327f29f1
11:44129642 EXT2 C>G	11	44129642	44129642	C	G	EXT2	c.380C>G	NM_207122.2	NP_997005.1:p.(Ser127Cys)	NC_000011.9:g.44129642C>G	VUS	1 lab	c234890d9e
1:247587597 NLRP3 C>A	1	247587597	247587597	C	A	NLRP3	c.846C>A	NM_001243133.2	NP_001230062.1:p.(Asn282Lys)	NC_000001.10:g.247587597C>A	(Likely) benign	1 lab	c235833014
22:51159233 SHANK3 G>C	22	51159233	51159233	G	C	SHANK3	c.3197G>C	NM_001372044.2	NP_001358973.1:p.(Gly1066Ala)	NC_000022.10:g.51159233G>C	VUS	1 lab	c23731073d
6:158870124 TULP4 G>A	6	158870124	158870124	G	A	TULP4	c.640G>A	NM_020245.5	NP_064630.2:p.(Gly214Ser)	NC_000006.11:g.158870124G>A	(Likely) benign	1 lab	c239095942
11:1080917 MUC2 C>T	11	1080917	1080917	C	T	MUC2	c.1301C>T	NM_002457.5	NP_002448.5:p.(Pro434Leu)	NC_000011.9:g.1080917C>T	(Likely) benign	1 lab	c23cc70664
X:55172580 VCF2 G>C	X	55172580	55172580	G	C	VCF2	c.285C>G	NM_001166701.4	NP_001160173.1:p.(Ile95Met)	NC_000023.10:g.55172580G>C	(Likely) benign	1 lab	c23d64aeab
12:48367299 COL2A1 T>C	12	48367299	48367299	T	C	COL2A1	c.4355A>G	NM_001844.5	NP_001835.3:p.(Tyr1452Cys)	NC_000012.11:g.48367299T>C	VUS	1 lab	c23defb863
3:53787671 CACNA1D G>A	3	53787671	53787671	G	A	CACNA1D	c.3748G>A	NM_001128840.3	NP_001122312.1:p.(Val1250Ile)	NC_000003.11:g.53787671G>A	(Likely) benign	1 lab	c23e1846f1
X:153716220 SLC10A3 C>T	X	153716220	153716220	C	T	SLC10A3	c.1060G>A	NM_019848.5	NP_062822.1:p.(Val354Ile)	NC_000023.10:g.153716220C>T	(Likely) benign	1 lab	c23e473474
20:43048350 HNF4A A>C	20	43048350	43048350	A	C	HNF4A	c.737-11A>C	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43048350A>C	(Likely) benign	1 lab	c2404d2fe1
8:11412318 BLK G>A	8	11412318	11412318	G	A	BLK	c.539G>A	NM_001715.3	NP_001706.2:p.(Arg180His)	NC_000008.10:g.11412318G>A	VUS	1 lab	c2406aba37
8:116426762 TRPS1 C>T	8	116426762	116426762	C	T	TRPS1	c.3374G>A	NM_014112.5	NP_054831.2:p.(Arg1125Gln)	NC_000008.10:g.116426762C>T	VUS	1 lab	c242ee4f4d
10:103987411 ELOVL3 T>C	10	103987411	103987411	T	C	ELOVL3	c.130T>C	NM_152310.3	NP_689523.1:p.(Tyr44His)	NC_000010.10:g.103987411T>C	VUS	1 lab	c244a6cb01
4:109000649 LEF1 C>T	4	109000649	109000649	C	T	LEF1	c.844G>A	NM_016269.5	NP_057353.1:p.(Val282Met)	NC_000004.11:g.109000649C>T	(Likely) benign	1 lab	c245ef7031
7:31015423 GHRHR G>A	7	31015423	31015423	G	A	GHRHR	c.914G>A	NM_000823.4	NP_000814.2:p.(Arg305His)	NC_000007.13:g.31015423G>A	VUS	1 lab	c246337b4b
18:31325564 ASXL3 G>A	18	31325564	31325564	G	A	ASXL3	c.5752G>A	NM_030632.3	NP_085135.1:p.(Gly1918Ser)	NC_000018.9:g.31325564G>A	(Likely) benign	1 lab	c248f92d15
X:151869707 MAGEA3 G>T	X	151869707	151869707	G	T	MAGEA3	c.397G>T	NM_005362.4	NP_005353.1:p.(Ala133Ser)	NC_000023.10:g.151869707G>T	VUS	1 lab	c2495be544
11:71152465 DHCR7 A>G	11	71152465	71152465	A	G	DHCR7	c.434T>C	NM_001360.3	NP_001351.2:p.(Ile145Thr)	NC_000011.9:g.71152465A>G	(Likely) pathogenic	1 lab	c2499832a2
1:178490387 TEX35 A>G	1	178490387	178490387	A	G	TEX35	c.574A>G	NM_032126.5	NP_115502.2:p.(Asn192Asp)	NC_000001.10:g.178490387A>G	(Likely) benign	1 lab	c249c0297b
15:90210208 PLIN1 C>T	15	90210208	90210208	C	T	PLIN1	c.1168G>A	NM_002666.5	NP_002657.3:p.(Val390Ile)	NC_000015.9:g.90210208C>T	VUS	1 lab	c24bad8f6e
2:182765534 ITPRID2 T>A	2	182765534	182765534	T	A	ITPRID2	c.615T>A	NM_001130445.3	NP_001123917.1:p.(Phe205Leu)	NC_000002.11:g.182765534T>A	(Likely) benign	1 lab	c24c745736
10:134664638 CFAP46 A>C	10	134664638	134664638	A	C	CFAP46	c.5746T>G	NM_001200049.3	NP_001186978.2:p.(Tyr1916Asp)	NC_000010.10:g.134664638A>C	VUS	1 lab	c24dc058ca
1:100680413 DBT G>A	1	100680413	100680413	G	A	DBT	c.899C>T	NM_001918.5	NP_001909.4:p.(Ala300Val)	NC_000001.10:g.100680413G>A	(Likely) benign	1 lab	c24dcf38e4
4:126242470 FAT4 T>A	4	126242470	126242470	T	A	FAT4	c.4904T>A	NM_001291303.3	NP_001278232.1:p.(Ile1635Lys)	NC_000004.11:g.126242470T>A	VUS	1 lab	c24f523c1b
5:169508991 DOCK2 G>A	5	169508991	169508991	G	A	DOCK2	c.5430+3G>A	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169508991G>A	(Likely) benign	1 lab	c25146798f
6:74497102 CD109 G>A	6	74497102	74497102	G	A	CD109	c.2483G>A	NM_133493.5	NP_598000.2:p.(Gly828Glu)	NC_000006.11:g.74497102G>A	(Likely) benign	1 lab	c2516c4069
4:56277766 TMEM165 A>AT	4	56277766	56277776	A	AT	TMEM165	c.208-5dup	NM_018475.5	NP_060945.2:p.?	NC_000004.11:g.56277776dup	(Likely) benign	1 lab	c254d6168e
1:12921443 PRAMEF2 T>C	1	12921443	12921443	T	C	PRAMEF2	c.1234T>C	NM_023014.1	NP_075390.1:p.(Tyr412His)	NC_000001.10:g.12921443T>C	(Likely) benign	1 lab	c254e0f46a
4:56840939 CEP135 G>T	4	56840939	56840939	G	T	CEP135	c.1277G>T	NM_025009.5	NP_079285.2:p.(Arg426Met)	NC_000004.11:g.56840939G>T	VUS	1 lab	c25577089e
19:18899259 COMP G>C	19	18899259	18899259	G	C	COMP	c.827C>G	NM_000095.3	NP_000086.2:p.(Pro276Arg)	NC_000019.9:g.18899259G>C	(Likely) pathogenic	1 lab	c256527d42
20:44594258 ZNF335 A>G	20	44594258	44594258	A	G	ZNF335	c.1102+9T>C	NM_022095.4	NP_071378.1:p.?	NC_000020.10:g.44594258A>G	(Likely) benign	1 lab	c256a397cd
16:3293978 MEFV G>A	16	3293978	3293978	G	A	MEFV	c.1760-86C>T	NM_000243.3	NP_000234.1:p.?	NC_000016.9:g.3293978G>A	VUS	1 lab	c256ddf443
5:86674286 RASA1 TAC>T	5	86674286	86674291	TAC	T	RASA1	c.2422_2423del	NM_002890.3	NP_002881.1:p.(Gln808ValfsTer21)	NC_000005.9:g.86674290_86674291del	(Likely) pathogenic	1 lab	c2584419b5
14:68029097 PLEKHH1 T>C	14	68029097	68029097	T	C	PLEKHH1	c.749T>C	NM_020715.3	NP_065766.1:p.(Val250Ala)	NC_000014.8:g.68029097T>C	(Likely) benign	1 lab	c258cb9481
2:163138875 IFIH1 C>T	2	163138875	163138875	C	T	IFIH1	c.1306+1G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163138875C>T	VUS	1 lab	c2ca626b16
8:41555572 ANK1 CT>C	8	41555572	41555574	CT	C	ANK1	c.2625del	NM_000037.4	NP_000028.3:p.(Glu876SerfsTer40)	NC_000008.10:g.41555574del	(Likely) pathogenic	1 lab	2c6055b11d
3:52557921 STAB1 C>T	3	52557921	52557921	C	T	STAB1	c.7430C>T	NM_015136.3	NP_055951.2:p.(Ala2477Val)	NC_000003.11:g.52557921C>T	(Likely) benign	1 lab	c25984264e
19:50784870 MYH14 G>A	19	50784870	50784870	G	A	MYH14	c.4310G>A	NM_001145809.2	NP_001139281.1:p.(Arg1437His)	NC_000019.9:g.50784870G>A	VUS	1 lab	c259a90590
9:27205017 TEK A>C	9	27205017	27205017	A	C	TEK	c.2318A>C	NM_000459.5	NP_000450.3:p.(Lys773Thr)	NC_000009.11:g.27205017A>C	VUS	1 lab	c25a12e133
16:775844 CCDC78 G>A	16	775844	775844	G	A	CCDC78	c.217C>T	NM_001378030.1	NP_001364959.1:p.(His73Tyr)	NC_000016.9:g.775844G>A	(Likely) benign	1 lab	c25a98c3b7
11:74204600 LIPT2 C>G	11	74204600	74204600	C	G	LIPT2	c.149G>C	NM_001144869.3	NP_001138341.1:p.(Cys50Ser)	NC_000011.9:g.74204600C>G	(Likely) benign	1 lab	c25afe60a4
11:6651469 DCHS1 G>T	11	6651469	6651469	G	T	DCHS1	c.4556C>A	NM_003737.4	NP_003728.1:p.(Pro1519His)	NC_000011.9:g.6651469G>T	(Likely) benign	1 lab	c25b0dc4ec
11:1956070 TNNT3 A>G	11	1956070	1956070	A	G	TNNT3	c.602A>G	NM_006757.4	NP_006748.1:p.(Lys201Arg)	NC_000011.9:g.1956070A>G	(Likely) benign	1 lab	c25b2113b9
4:89061015 ABCG2 G>A	4	89061015	89061015	G	A	ABCG2	c.133C>T	NM_004827.3	NP_004818.2:p.(Arg45Ter)	NC_000004.11:g.89061015G>A	VUS	1 lab	c25d010fbe
7:51132909 COBL G>A	7	51132909	51132909	G	A	COBL	c.1096+19954C>T	NM_015198.5	NP_056013.2:p.?	NC_000007.13:g.51132909G>A	(Likely) benign	1 lab	c25d9f9eee
1:39851563 MACF1 C>T	1	39851563	39851563	C	T	MACF1	c.14306C>T	NM_001394062.1	NP_001380991.1:p.(Thr4769Ile)	NC_000001.10:g.39851563C>T	(Likely) benign	1 lab	c25e3317c4
17:41244310 BRCA1 A>G	17	41244310	41244310	A	G	BRCA1	c.3238T>C	NM_007294.4	NP_009225.1:p.(Leu1080=)	NC_000017.10:g.41244310A>G	(Likely) benign	1 lab	c25e8a68e9
6:82461524 TENT5A C>A	6	82461524	82461524	C	A	TENT5A	c.335G>T	NM_017633.3	NP_060103.2:p.(Arg112Leu)	NC_000006.11:g.82461524C>A	(Likely) benign	1 lab	c25eb165f8
1:225607043 LBR C>T	1	225607043	225607043	C	T	LBR	c.562G>A	NM_002296.4	NP_002287.2:p.(Val188Ile)	NC_000001.10:g.225607043C>T	(Likely) benign	1 lab	c25ebeb9f9
2:172337580 DCAF17 T>C	2	172337580	172337580	T	C	DCAF17	c.1519T>C	NM_025000.4	NP_079276.2:p.(Cys507Arg)	NC_000002.11:g.172337580T>C	VUS	1 lab	c25fb62956
4:122789192 BBS7 T>C	4	122789192	122789192	T	C	BBS7	c.46A>G	NM_176824.3	NP_789794.1:p.(Thr16Ala)	NC_000004.11:g.122789192T>C	VUS	1 lab	c263f2ade2
8:48710880 PRKDC T>C	8	48710880	48710880	T	C	PRKDC	c.10376A>G	NM_006904.6	NP_008835.5:p.(Asn3459Ser)	NC_000008.10:g.48710880T>C	(Likely) benign	1 lab	2c61490738
4:997190 IDUA C>G	4	997190	997190	C	G	IDUA	c.1582C>G	NM_000203.5	NP_000194.2:p.(Pro528Ala)	NC_000004.11:g.997190C>G	(Likely) benign	1 lab	c266672986
4:1808038 FGFR3 A>G	4	1808038	1808038	A	G	FGFR3	c.2014A>G	NM_000142.5	NP_000133.1:p.(Thr672Ala)	NC_000004.11:g.1808038A>G	(Likely) benign	1 lab	c266f616cc
21:47831728 PCNT C>T	21	47831728	47831728	C	T	PCNT	c.5741C>T	NM_006031.6	NP_006022.3:p.(Ala1914Val)	NC_000021.8:g.47831728C>T	VUS	1 lab	c26781dfcd
20:57009679 VAPB A>T	20	57009679	57009679	A	T	VAPB	c.233A>T	NM_004738.5	NP_004729.1:p.(Tyr78Phe)	NC_000020.10:g.57009679A>T	VUS	1 lab	c26882c7af
12:120653371 PXN C>T	12	120653371	120653371	C	T	PXN	c.2395G>A	NM_001385981.1	NP_001372910.1:p.(Glu799Lys)	NC_000012.11:g.120653371C>T	(Likely) benign	1 lab	c268f28377
17:40841616 CNTNAP1 C>T	17	40841616	40841616	C	T	CNTNAP1	c.1706C>T	NM_003632.3	NP_003623.1:p.(Thr569Met)	NC_000017.10:g.40841616C>T	VUS	1 lab	c26964da73
7:47925520 PKD1L1 C>T	7	47925520	47925520	C	T	PKD1L1	c.2969G>A	NM_138295.5	NP_612152.1:p.(Arg990Gln)	NC_000007.13:g.47925520C>T	(Likely) benign	1 lab	c269dfc2b4
10:115661662 NHLRC2 G>C	10	115661662	115661662	G	C	NHLRC2	c.1371+6G>C	NM_198514.4	NP_940916.2:p.?	NC_000010.10:g.115661662G>C	(Likely) benign	1 lab	c26a00af22
14:102906887 TECPR2 C>G	14	102906887	102906887	C	G	TECPR2	c.2693C>G	NM_014844.5	NP_055659.2:p.(Ala898Gly)	NC_000014.8:g.102906887C>G	VUS	1 lab	c26ac428cc
18:50866185 DCC G>A	18	50866185	50866185	G	A	DCC	c.2267G>A	NM_005215.4	NP_005206.2:p.(Arg756Gln)	NC_000018.9:g.50866185G>A	VUS	1 lab	c26c4eb792
X:128720983 OCRL A>T	X	128720983	128720983	A	T	OCRL	c.2144A>T	NM_000276.4	NP_000267.2:p.(Lys715Ile)	NC_000023.10:g.128720983A>T	(Likely) benign	1 lab	c26dedb63a
X:15350121 PIGA A>G	X	15350121	15350121	A	G	PIGA	c.-62-7T>C	NM_002641.4	NP_002632.1:p.?	NC_000023.10:g.15350121A>G	(Likely) benign	1 lab	c26df1a2cb
17:10538344 MYH3 A>C	17	10538344	10538344	A	C	MYH3	c.4173-4T>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10538344A>C	VUS	1 lab	c26e7474bb
X:136112540 GPR101 G>A	X	136112540	136112540	G	A	GPR101	c.1294C>T	NM_054021.2	NP_473362.1:p.(Pro432Ser)	NC_000023.10:g.136112540G>A	(Likely) benign	1 lab	c26f663531
19:33334759 SLC7A9 A>G	19	33334759	33334759	A	G	SLC7A9	c.1074+2T>C	NM_014270.5	NP_055085.1:p.?	NC_000019.9:g.33334759A>G	(Likely) pathogenic	1 lab	2a5ccbbf25
13:28494549 PDX1 C>T	13	28494549	28494549	C	T	PDX1	c.274C>T	NM_000209.4	NP_000200.1:p.(Leu92Phe)	NC_000013.10:g.28494549C>T	VUS	1 lab	c272296c31
14:74951252 NPC2 T>A	14	74951252	74951252	T	A	NPC2	c.229A>T	NM_006432.5	NP_006423.1:p.(Ile77Phe)	NC_000014.8:g.74951252T>A	(Likely) benign	1 lab	c272c10db2
15:78393265 SH2D7 C>A	15	78393265	78393265	C	A	SH2D7	c.670C>A	NM_001101404.2	NP_001094874.1:p.(Pro224Thr)	NC_000015.9:g.78393265C>A	VUS	1 lab	c27312e139
1:43212992 P3H1 C>T	1	43212992	43212992	C	T	P3H1	c.2006G>A	NM_022356.4	NP_071751.3:p.(Arg669His)	NC_000001.10:g.43212992C>T	VUS	1 lab	c27469e9e4
6:129813453 LAMA2 C>G	6	129813453	129813453	C	G	LAMA2	c.8076-7C>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129813453C>G	(Likely) benign	1 lab	c274ec03d3
X:114426027 RBMXL3 C>T	X	114426027	114426027	C	T	RBMXL3	c.2023C>T	NM_001145346.2	NP_001138818.1:p.(Arg675Cys)	NC_000023.10:g.114426027C>T	VUS	1 lab	c276007c95
X:134988181 SAGE1 A>C	X	134988181	134988181	A	C	SAGE1	c.455-2A>C	NM_001381902.1	NP_001368831.1:p.?	NC_000023.10:g.134988181A>C	VUS	1 lab	c2770e5990
5:177027265 B4GALT7 A>AGCG	5	177027265	177027275	A	AGCG	B4GALT7	c.50+12_50+14dup	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177027273_177027275dup	VUS	1 lab	c27b96a137
19:1105729 GPX4 A>T	19	1105729	1105729	A	T	GPX4	c.397A>T	NM_002085.5	NP_002076.2:p.(Ile133Phe)	NC_000019.9:g.1105729A>T	VUS	1 lab	c27bd9b441
2:136107750 ZRANB3 T>C	2	136107750	136107750	T	C	ZRANB3	c.395A>G	NM_032143.4	NP_115519.2:p.(Tyr132Cys)	NC_000002.11:g.136107750T>C	VUS	1 lab	c27c0f9c9c
6:112382236 CCN6 C>A	6	112382236	112382236	C	A	CCN6	c.91C>A	NM_198239.2	NP_937882.2:p.(Pro31Thr)	NC_000006.11:g.112382236C>A	(Likely) benign	1 lab	c27e4b8a57
3:172163241 GHSR C>G	3	172163241	172163241	C	G	GHSR	c.811G>C	NM_198407.2	NP_940799.1:p.(Ala271Pro)	NC_000003.11:g.172163241C>G	VUS	1 lab	c27e92318e
1:27023486 ARID1A C>T	1	27023486	27023486	C	T	ARID1A	c.592C>T	NM_006015.6	NP_006006.3:p.(Pro198Ser)	NC_000001.10:g.27023486C>T	(Likely) benign	1 lab	c280544390
4:3237947 HTT G>A	4	3237947	3237947	G	A	HTT	c.8857G>A	NM_001388492.1	NP_001375421.1:p.(Val2953Ile)	NC_000004.11:g.3237947G>A	VUS	1 lab	c281511b10
22:45938164 FBLN1 G>T	22	45938164	45938164	G	T	FBLN1	c.1195+1G>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45938164G>T	VUS	1 lab	c2823469cc
14:105414352 AHNAK2 T>C	14	105414352	105414352	T	C	AHNAK2	c.7436A>G	NM_138420.4	NP_612429.2:p.(Lys2479Arg)	NC_000014.8:g.105414352T>C	VUS	1 lab	c283a8d648
14:79181294 NRXN3 G>A	14	79181294	79181294	G	A	NRXN3	c.1856G>A	NM_001330195.2	NP_001317124.1:p.(Arg619His)	NC_000014.8:g.79181294G>A	VUS	1 lab	c286438dbb
6:6182340 F13A1 T>C	6	6182340	6182340	T	C	F13A1	c.1340A>G	NM_000129.4	NP_000120.2:p.(Lys447Arg)	NC_000006.11:g.6182340T>C	VUS	1 lab	c286798b2d
3:38601915 SCN5A A>T	3	38601915	38601915	A	T	SCN5A	c.3965T>A	NM_000335.5	NP_000326.2:p.(Val1322Glu)	NC_000003.11:g.38601915A>T	(Likely) pathogenic	1 lab	c28818d4ba
11:65319440 LTBP3 GA>G	11	65319440	65319441	GA	G	LTBP3	c.1531+2del	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65319441del	VUS	1 lab	c2881d5eb6
12:106830896 POLR3B G>T	12	106830896	106830896	G	T	POLR3B	c.1843G>T	NM_018082.6	NP_060552.4:p.(Ala615Ser)	NC_000012.11:g.106830896G>T	VUS	1 lab	c28869e1be
2:152506778 NEB C>T	2	152506778	152506778	C	T	NEB	c.7343G>A	NM_001164508.2	NP_001157980.2:p.(Arg2448His)	NC_000002.11:g.152506778C>T	VUS	1 lab	c289c75bba
14:21854057 CHD8 G>C	14	21854057	21854057	G	C	CHD8	c.7461C>G	NM_001170629.2	NP_001164100.1:p.(Asp2487Glu)	NC_000014.8:g.21854057G>C	VUS	1 lab	c28ab82c40
20:49575021 DPM1 G>A	20	49575021	49575021	G	A	DPM1	c.40C>T	NM_003859.3	NP_003850.1:p.(Arg14Trp)	NC_000020.10:g.49575021G>A	(Likely) benign	1 lab	c28d2dced8
4:5803722 EVC G>A	4	5803722	5803722	G	A	EVC	c.2350G>A	NM_153717.3	NP_714928.1:p.(Ala784Thr)	NC_000004.11:g.5803722G>A	(Likely) benign	1 lab	c28e4d98b6
12:108011111 ABTB3 G>A	12	108011111	108011111	G	A	ABTB3	c.2129G>A	NM_001018072.2	NP_001018082.1:p.(Arg710His)	NC_000012.11:g.108011111G>A	(Likely) benign	1 lab	c28ed57ab5
22:40066083 CACNA1I T>C	22	40066083	40066083	T	C	CACNA1I	c.4235T>C	NM_021096.4	NP_066919.2:p.(Ile1412Thr)	NC_000022.10:g.40066083T>C	VUS	1 lab	c28f635eea
7:156961825 UBE3C G>T	7	156961825	156961825	G	T	UBE3C	c.195+9G>T	NM_014671.3	NP_055486.2:p.?	NC_000007.13:g.156961825G>T	(Likely) benign	1 lab	c292248cb2
5:152871812 GRIA1 G>T	5	152871812	152871812	G	T	GRIA1	c.82+1282G>T	NM_000827.4	NP_000818.2:p.?	NC_000005.9:g.152871812G>T	VUS	1 lab	c293794f37
21:47421284 COL6A1 G>A	21	47421284	47421284	G	A	COL6A1	c.1940G>A	NM_001848.3	NP_001839.2:p.(Arg647Gln)	NC_000021.8:g.47421284G>A	VUS	1 lab	c29398321b
8:113364697 CSMD3 T>C	8	113364697	113364697	T	C	CSMD3	c.6203A>G	NM_198123.2	NP_937756.1:p.(Tyr2068Cys)	NC_000008.10:g.113364697T>C	VUS	1 lab	c2976a0872
17:73726605 ITGB4 C>G	17	73726605	73726605	C	G	ITGB4	c.1002+20C>G	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73726605C>G	(Likely) benign	1 lab	2c635bf6c1
2:86305304 POLR1A T>C	2	86305304	86305304	T	C	POLR1A	c.1190A>G	NM_015425.6	NP_056240.2:p.(His397Arg)	NC_000002.11:g.86305304T>C	(Likely) benign	1 lab	c29b212f9d
17:38142869 PSMD3 G>A	17	38142869	38142869	G	A	PSMD3	c.453G>A	NM_002809.4	NP_002800.2:p.(Thr151=)	NC_000017.10:g.38142869G>A	(Likely) benign	1 lab	c29ba7d753
17:48047109 DLX4 G>C	17	48047109	48047109	G	C	DLX4	c.277G>C	NM_138281.3	NP_612138.1:p.(Glu93Gln)	NC_000017.10:g.48047109G>C	(Likely) benign	1 lab	c29c85d0b4
3:176750800 TBL1XR1 T>G	3	176750800	176750800	T	G	TBL1XR1	c.1375A>C	NM_024665.7	NP_078941.2:p.(Ser459Arg)	NC_000003.11:g.176750800T>G	(Likely) pathogenic	1 lab	c29d91e253
2:37229485 HEATR5B T>C	2	37229485	37229485	T	C	HEATR5B	c.5281A>G	NM_019024.3	NP_061897.1:p.(Ile1761Val)	NC_000002.11:g.37229485T>C	(Likely) benign	1 lab	c29dc14c6f
10:61846461 ANK3 T>C	10	61846461	61846461	T	C	ANK3	c.3722A>G	NM_020987.5	NP_066267.2:p.(Asn1241Ser)	NC_000010.10:g.61846461T>C	(Likely) benign	1 lab	c29e751ec2
16:28909557 ATP2A1 G>A	16	28909557	28909557	G	A	ATP2A1	c.1549G>A	NM_004320.6	NP_004311.1:p.(Ala517Thr)	NC_000016.9:g.28909557G>A	VUS	1 lab	c29fb14076
9:95027201 IARS1 G>C	9	95027201	95027201	G	C	IARS1	c.1700+10C>G	NM_002161.6	NP_002152.2:p.?	NC_000009.11:g.95027201G>C	(Likely) benign	1 lab	c2a0f358c2
17:27866799 TAOK1 A>G	17	27866799	27866799	A	G	TAOK1	c.2545-2780A>G	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27866799A>G	(Likely) benign	1 lab	c2a19692b8
3:58107141 FLNB C>A	3	58107141	58107141	C	A	FLNB	c.3037C>A	NM_001457.4	NP_001448.2:p.(Leu1013Met)	NC_000003.11:g.58107141C>A	VUS	1 lab	c2a458769c
8:11614607 GATA4 T>A	8	11614607	11614607	T	A	GATA4	c.1149+15T>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11614607T>A	VUS	1 lab	c2a461ebf8
14:70245891 SLC10A1 AT>A	14	70245891	70245892	AT	A	SLC10A1	c.746+7del	NM_003049.4	NP_003040.1:p.?	NC_000014.8:g.70245892del	(Likely) benign	1 lab	c2a5c40bcc
7:1517395 INTS1 C>T	7	1517395	1517395	C	T	INTS1	c.4808G>A	NM_001080453.3	NP_001073922.2:p.(Gly1603Asp)	NC_000007.13:g.1517395C>T	VUS	1 lab	c2a6b55bc8
14:64519599 SYNE2 G>A	14	64519599	64519599	G	A	SYNE2	c.8968G>A	NM_182914.2	NP_878918.2:p.(Ala2990Thr)	NC_000014.8:g.64519599G>A	(Likely) benign	1 lab	2c6809fadc
12:111652019 CUX2 G>A	12	111652019	111652019	G	A	CUX2	c.79G>A	NM_015267.4	NP_056082.2:p.(Val27Ile)	NC_000012.11:g.111652019G>A	(Likely) benign	1 lab	c2a8e4b4e6
17:8658849 SPDYE4 G>A	17	8658849	8658849	G	A	SPDYE4	c.474C>T	NM_001394956.1	NP_001381885.1:p.(Phe158=)	NC_000017.10:g.8658849G>A	(Likely) benign	1 lab	c2a9bce1bd
1:12023582 PLOD1 C>T	1	12023582	12023582	C	T	PLOD1	c.1098-7C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12023582C>T	(Likely) benign	1 lab	c2aa3bad61
1:225594366 LBR G>A	1	225594366	225594366	G	A	LBR	c.1483C>T	NM_002296.4	NP_002287.2:p.(Leu495Phe)	NC_000001.10:g.225594366G>A	(Likely) benign	1 lab	c2ab9483fd
1:236714292 HEATR1 TAA>T	1	236714292	236714310	TAA	T	HEATR1	c.6347-4_6347-3del	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714309_236714310del	(Likely) benign	1 lab	c2ad32529a
22:32154603 DEPDC5 C>G	22	32154603	32154603	C	G	DEPDC5	c.130C>G	NM_001242896.3	NP_001229825.1:p.(Pro44Ala)	NC_000022.10:g.32154603C>G	VUS	1 lab	c2ad4080f1
19:15272342 NOTCH3 G>C	19	15272342	15272342	G	C	NOTCH3	c.6097C>G	NM_000435.3	NP_000426.2:p.(Pro2033Ala)	NC_000019.9:g.15272342G>C	VUS	1 lab	c2ae473194
17:62038535 SCN4A T>A	17	62038535	62038535	T	A	SCN4A	c.1845+18A>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62038535T>A	(Likely) benign	1 lab	c2af2bcb10
3:9166590 SRGAP3 G>T	3	9166590	9166590	G	T	SRGAP3	c.79C>A	NM_014850.4	NP_055665.1:p.(Gln27Lys)	NC_000003.11:g.9166590G>T	VUS	1 lab	c2b158b257
7:101891873 CUX1 T>G	7	101891873	101891873	T	G	CUX1	c.4069T>G	NM_181552.4	NP_853530.2:p.(Ser1357Ala)	NC_000007.13:g.101891873T>G	VUS	1 lab	c2b39eece1
14:105836180 PACS2 A>C	14	105836180	105836180	A	C	PACS2	c.744A>C	NM_001100913.3	NP_001094383.2:p.(Gln248His)	NC_000014.8:g.105836180A>C	VUS	1 lab	c2b8108c4a
15:31776810 OTUD7A CGTTATTGCT>C	15	31776810	31776823	CGTTATTGCT	C	OTUD7A	c.1480_1488del	NM_001382637.1	NP_001369566.1:p.(Ser494_Asn496del)	NC_000015.9:g.31776815_31776823del	VUS	1 lab	c2bb7e66ed
16:30964762 ORAI3 T>A	16	30964762	30964762	T	A	ORAI3	c.485T>A	NM_152288.3	NP_689501.1:p.(Phe162Tyr)	NC_000016.9:g.30964762T>A	VUS	1 lab	c2c03d8e12
17:10367910 MYH4 A>G	17	10367910	10367910	A	G	MYH4	c.534-7T>C	NM_017533.2	NP_060003.2:p.?	NC_000017.10:g.10367910A>G	(Likely) benign	1 lab	c2c13e7c22
7:128485142 FLNC C>T	7	128485142	128485142	C	T	FLNC	c.3623C>T	NM_001458.5	NP_001449.3:p.(Ala1208Val)	NC_000007.13:g.128485142C>T	(Likely) benign	1 lab	2a60694bb6
12:115112448 TBX3 G>A	12	115112448	115112448	G	A	TBX3	c.1232C>T	NM_005996.4	NP_005987.3:p.(Ala411Val)	NC_000012.11:g.115112448G>A	VUS	1 lab	c2c1b779a0
1:158450342 OR10R2 T>G	1	158450342	158450342	T	G	OR10R2	c.642T>G	NM_001395749.1	NP_001382678.1:p.(Leu214=)	NC_000001.10:g.158450342T>G	(Likely) benign	1 lab	c2c2e30b84
20:9364916 PLCB4 C>T	20	9364916	9364916	C	T	PLCB4	c.922C>T	NM_001377142.1	NP_001364071.1:p.(Arg308Cys)	NC_000020.10:g.9364916C>T	(Likely) benign	1 lab	c2c6cac2f3
4:5830393 CRMP1 C>T	4	5830393	5830393	C	T	CRMP1	c.1626G>A	NM_001014809.3	NP_001014809.1:p.(Ala542=)	NC_000004.11:g.5830393C>T	(Likely) benign	1 lab	c2c757cc40
6:131974025 ENPP3 C>T	6	131974025	131974025	C	T	ENPP3	c.458C>T	NM_005021.5	NP_005012.2:p.(Pro153Leu)	NC_000006.11:g.131974025C>T	VUS	1 lab	c2c7be1ebc
1:216371820 USH2A ATGAGGAC>A	1	216371820	216371831	ATGAGGAC	A	USH2A	c.3911_3917del	NM_206933.4	NP_996816.3:p.(Ser1304IlefsTer4)	NC_000001.10:g.216371825_216371831del	(Likely) pathogenic	1 lab	2a6301ecf4
9:100819143 NANS C>T	9	100819143	100819143	C	T	NANS	c.53C>T	NM_018946.4	NP_061819.2:p.(Pro18Leu)	NC_000009.11:g.100819143C>T	(Likely) benign	1 lab	c2c996325c
15:23811354 MKRN3 G>C	15	23811354	23811354	G	C	MKRN3	c.425G>C	NM_005664.4	NP_005655.1:p.(Gly142Ala)	NC_000015.9:g.23811354G>C	VUS	1 lab	c37df6b4ca
9:130931384 CIZ1 C>T	9	130931384	130931384	C	T	CIZ1	c.2242G>A	NM_001131016.2	NP_001124488.1:p.(Glu748Lys)	NC_000009.11:g.130931384C>T	VUS	1 lab	c2c9a15562
6:26045660 H3C3 G>T	6	26045660	26045660	G	T	H3C3	c.22G>T	NM_003531.3	NP_003522.1:p.(Ala8Ser)	NC_000006.11:g.26045660G>T	VUS	1 lab	c2caedc417
1:120464991 NOTCH2 A>G	1	120464991	120464991	A	G	NOTCH2	c.5081T>C	NM_024408.4	NP_077719.2:p.(Leu1694Pro)	NC_000001.10:g.120464991A>G	VUS	1 lab	c2cb01a943
14:21360059 RNASE3 C>T	14	21360059	21360059	C	T	RNASE3	c.214C>T	NM_002935.3	NP_002926.2:p.(Arg72Cys)	NC_000014.8:g.21360059C>T	(Likely) benign	1 lab	c2cc1cbe3d
19:15763705 CYP4F3 G>T	19	15763705	15763705	G	T	CYP4F3	c.1058G>T	NM_000896.3	NP_000887.2:p.(Arg353Leu)	NC_000019.9:g.15763705G>T	(Likely) benign	1 lab	c2ccaba294
19:17952445 JAK3 C>T	19	17952445	17952445	C	T	JAK3	c.984+4G>A	NM_000215.4	NP_000206.2:p.?	NC_000019.9:g.17952445C>T	(Likely) benign	1 lab	c2ce096dc1
1:8384564 SLC45A1 T>TG	1	8384564	8384565	T	TG	SLC45A1	c.175_176insG	NM_001080397.3	NP_001073866.3:p.(Ser59CysfsTer13)	NC_000001.10:g.8384564_8384565insG	(Likely) benign	1 lab	c2cf313f89
1:153914406 DENND4B C>T	1	153914406	153914406	C	T	DENND4B	c.994G>A	NM_014856.3	NP_055671.2:p.(Ala332Thr)	NC_000001.10:g.153914406C>T	(Likely) benign	1 lab	c2cf727ed1
12:124330239 DNAH10 C>A	12	124330239	124330239	C	A	DNAH10	c.5453C>A	NM_001372106.1	NP_001359035.1:p.(Ala1818Glu)	NC_000012.11:g.124330239C>A	VUS	1 lab	c2d01c7a15
17:18146115 LLGL1 T>C	17	18146115	18146115	T	C	LLGL1	c.3175T>C	NM_004140.4	NP_004131.4:p.(Cys1059Arg)	NC_000017.10:g.18146115T>C	(Likely) benign	1 lab	c2d06e8616
3:123345794 MYLK A>G	3	123345794	123345794	A	G	MYLK	c.5115-6T>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123345794A>G	(Likely) benign	1 lab	c2d0b1a834
X:135308084 MAP7D3 C>T	X	135308084	135308084	C	T	MAP7D3	c.2123G>A	NM_024597.4	NP_078873.2:p.(Arg708Gln)	NC_000023.10:g.135308084C>T	(Likely) benign	1 lab	c2d12c6867
X:32472748 DMD T>C	X	32472748	32472748	T	C	DMD	c.3603+31A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32472748T>C	(Likely) benign	1 lab	c2d29fcc99
1:154229855 UBAP2L C>T	1	154229855	154229855	C	T	UBAP2L	c.2387C>T	NM_014847.4	NP_055662.3:p.(Pro796Leu)	NC_000001.10:g.154229855C>T	VUS	1 lab	c2d2c6958b
17:10216568 MYH13 C>T	17	10216568	10216568	C	T	MYH13	c.4088G>A	NM_003802.3	NP_003793.2:p.(Arg1363Lys)	NC_000017.10:g.10216568C>T	VUS	1 lab	c2d2f98d56
2:50724612 NRXN1 G>A	2	50724612	50724612	G	A	NRXN1	c.2738C>T	NM_001330078.2	NP_001317007.1:p.(Ser913Leu)	NC_000002.11:g.50724612G>A	VUS	1 lab	c2d3597338
X:153217340 HCFC1 C>T	X	153217340	153217340	C	T	HCFC1	c.5212G>A	NM_005334.3	NP_005325.2:p.(Gly1738Ser)	NC_000023.10:g.153217340C>T	(Likely) benign	1 lab	c2d43bcc99
3:71481457 FOXP1 C>A	3	71481457	71481457	C	A	FOXP1	c.-168+61120G>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71481457C>A	(Likely) benign	1 lab	c2d507cd1f
6:138607993 ARFGEF3 G>T	6	138607993	138607993	G	T	ARFGEF3	c.2725G>T	NM_020340.5	NP_065073.3:p.(Asp909Tyr)	NC_000006.11:g.138607993G>T	VUS	1 lab	c2d61105c4
2:165946673 SCN3A TC>T	2	165946673	165946674	TC	T	SCN3A	c.5989del	NM_006922.4	NP_008853.3:p.(Glu1997LysfsTer38)	NC_000002.11:g.165946674del	VUS	1 lab	c2d8168acd
11:71712453 IL18BP G>A	11	71712453	71712453	G	A	IL18BP	c.362G>A	NM_001039660.2	NP_001034749.1:p.(Arg121Gln)	NC_000011.9:g.71712453G>A	(Likely) benign	1 lab	c2d88d655f
9:140095079 TPRN T>A	9	140095079	140095079	T	A	TPRN	c.85A>T	NM_001128228.3	NP_001121700.2:p.(Lys29Ter)	NC_000009.11:g.140095079T>A	(Likely) pathogenic	1 lab	c2d9d1e594
17:72277999 DNAI2 G>A	17	72277999	72277999	G	A	DNAI2	c.43G>A	NM_023036.6	NP_075462.3:p.(Gly15Arg)	NC_000017.10:g.72277999G>A	VUS	1 lab	c2da48bdc2
2:220366722 GMPPA G>A	2	220366722	220366722	G	A	GMPPA	c.392G>A	NM_013335.4	NP_037467.2:p.(Arg131Gln)	NC_000002.11:g.220366722G>A	VUS	1 lab	c2ddea4a3c
19:59022919 SLC27A5 C>T	19	59022919	59022919	C	T	SLC27A5	c.404G>A	NM_012254.3	NP_036386.1:p.(Trp135Ter)	NC_000019.9:g.59022919C>T	VUS	1 lab	c2e030d6c5
X:41469236 CASK G>A	X	41469236	41469236	G	A	CASK	c.1076C>T	NM_001367721.1	NP_001354650.1:p.(Ala359Val)	NC_000023.10:g.41469236G>A	VUS	1 lab	c2e07caa09
1:22172685 HSPG2 G>A	1	22172685	22172685	G	A	HSPG2	c.8380C>T	NM_005529.7	NP_005520.4:p.(Arg2794Trp)	NC_000001.10:g.22172685G>A	(Likely) benign	1 lab	c2e100d117
2:71159963 VAX2 C>G	2	71159963	71159963	C	G	VAX2	c.502C>G	NM_012476.3	NP_036608.1:p.(Arg168Gly)	NC_000002.11:g.71159963C>G	VUS	1 lab	c2e2fe9cb9
3:58141692 FLNB T>G	3	58141692	58141692	T	G	FLNB	c.6778T>G	NM_001457.4	NP_001448.2:p.(Tyr2260Asp)	NC_000003.11:g.58141692T>G	VUS	1 lab	c2e33d7256
7:47840310 PKD1L1 C>G	7	47840310	47840310	C	G	PKD1L1	c.8130G>C	NM_138295.5	NP_612152.1:p.(Gln2710His)	NC_000007.13:g.47840310C>G	(Likely) benign	1 lab	c2e3823acd
6:51941107 PKHD1 C>T	6	51941107	51941107	C	T	PKHD1	c.415G>A	NM_138694.4	NP_619639.3:p.(Val139Ile)	NC_000006.11:g.51941107C>T	(Likely) benign	1 lab	c2e3a557f9
11:55111585 OR4A16 G>T	11	55111585	55111585	G	T	OR4A16	c.909G>T	NM_001005274.1	NP_001005274.1:p.(Lys303Asn)	NC_000011.9:g.55111585G>T	VUS	1 lab	c2e6394d65
12:57572362 LRP1 T>G	12	57572362	57572362	T	G	LRP1	c.4582T>G	NM_002332.3	NP_002323.2:p.(Tyr1528Asp)	NC_000012.11:g.57572362T>G	VUS	1 lab	c2e6bbdbcf
6:79664635 PHIP C>T	6	79664635	79664635	C	T	PHIP	c.3949G>A	NM_017934.7	NP_060404.4:p.(Asp1317Asn)	NC_000006.11:g.79664635C>T	(Likely) benign	1 lab	c2e80be750
16:76528874 CNTNAP4 G>A	16	76528874	76528874	G	A	CNTNAP4	c.2148G>A	NM_033401.5	NP_207837.2:p.(Ser716=)	NC_000016.9:g.76528874G>A	VUS	1 lab	c2eaf1ca8d
1:10394696 KIF1B G>A	1	10394696	10394696	G	A	KIF1B	c.3043G>A	NM_001365951.3	NP_001352880.1:p.(Ala1015Thr)	NC_000001.10:g.10394696G>A	VUS	1 lab	c2ecb6414b
19:57666748 DUXA G>T	19	57666748	57666748	G	T	DUXA	c.439-8C>A	NM_001012729.2	NP_001012747.1:p.?	NC_000019.9:g.57666748G>T	(Likely) benign	1 lab	c2ed0fb5f0
12:51458305 CSRNP2 G>A	12	51458305	51458305	G	A	CSRNP2	c.856C>T	NM_030809.3	NP_110436.1:p.(Arg286Cys)	NC_000012.11:g.51458305G>A	(Likely) benign	1 lab	c2ed41f5dc
6:74363510 SLC17A5 G>A	6	74363510	74363510	G	A	SLC17A5	c.94+6C>T	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74363510G>A	(Likely) benign	1 lab	c2ee1241a8
5:71495351 MAP1B T>A	5	71495351	71495351	T	A	MAP1B	c.6169T>A	NM_005909.5	NP_005900.2:p.(Tyr2057Asn)	NC_000005.9:g.71495351T>A	VUS	1 lab	c2eeccac21
11:118347563 KMT2A G>A	11	118347563	118347563	G	A	KMT2A	c.3200G>A	NM_001197104.2	NP_001184033.1:p.(Arg1067Gln)	NC_000011.9:g.118347563G>A	VUS	1 lab	c2f0439a78
20:33033086 ITCH A>ATTT	20	33033086	33033089	A	ATTT	ITCH	c.966-5_966-3dup	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33033087_33033089dup	(Likely) benign	1 lab	c2f239210b
9:119460359 ASTN2 G>A	9	119460359	119460359	G	A	ASTN2	c.2806+27691C>T	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460359G>A	(Likely) benign	1 lab	c2f246f031
16:19639065 VPS35L G>A	16	19639065	19639065	G	A	VPS35L	c.1321G>A	NM_020314.7	NP_064710.5:p.(Ala441Thr)	NC_000016.9:g.19639065G>A	VUS	1 lab	c2f2f53f11
2:187368886 ZC3H15 A>G	2	187368886	187368886	A	G	ZC3H15	c.662A>G	NM_018471.3	NP_060941.2:p.(Lys221Arg)	NC_000002.11:g.187368886A>G	VUS	1 lab	c2f2ff1a32
17:4848183 RNF167 CCA>C	17	4848183	4848186	CCA	C	RNF167	c.927_928del	NM_015528.3	NP_056343.1:p.(Leu310PhefsTer4)	NC_000017.10:g.4848185_4848186del	VUS	1 lab	c2f486f276
1:152284772 FLG A>G	1	152284772	152284772	A	G	FLG	c.2590T>C	NM_002016.2	NP_002007.1:p.(Ser864Pro)	NC_000001.10:g.152284772A>G	(Likely) benign	1 lab	c2f49b98d9
15:34130075 RYR3 G>A	15	34130075	34130075	G	A	RYR3	c.11894G>A	NM_001036.6	NP_001027.3:p.(Cys3965Tyr)	NC_000015.9:g.34130075G>A	VUS	1 lab	c2f917eb9b
14:102514992 DYNC1H1 A>G	14	102514992	102514992	A	G	DYNC1H1	c.13358A>G	NM_001376.5	NP_001367.2:p.(Asn4453Ser)	NC_000014.8:g.102514992A>G	(Likely) benign	1 lab	c2f98be999
2:179593225 TTN A>T	2	179593225	179593225	A	T	TTN	c.19426+2T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179593225A>T	VUS	1 lab	c2fa3f4223
3:193158385 ATP13A4 C>T	3	193158385	193158385	C	T	ATP13A4	c.2481G>A	NM_032279.4	NP_115655.2:p.(Gly827=)	NC_000003.11:g.193158385C>T	(Likely) benign	1 lab	c2fb2e4946
3:47161939 SETD2 T>C	3	47161939	47161939	T	C	SETD2	c.4187A>G	NM_014159.7	NP_054878.5:p.(Asn1396Ser)	NC_000003.11:g.47161939T>C	(Likely) benign	1 lab	c2fbdda501
16:58572704 CNOT1 A>C	16	58572704	58572704	A	C	CNOT1	c.5107T>G	NM_016284.5	NP_057368.3:p.(Ser1703Ala)	NC_000016.9:g.58572704A>C	(Likely) benign	1 lab	c2fc678ae9
4:72363384 SLC4A4 A>G	4	72363384	72363384	A	G	SLC4A4	c.2141A>G	NM_001098484.3	NP_001091954.1:p.(Lys714Arg)	NC_000004.11:g.72363384A>G	VUS	1 lab	c2fc820c2b
1:160097393 ATP1A2 G>A	1	160097393	160097393	G	A	ATP1A2	c.800G>A	NM_000702.4	NP_000693.1:p.(Arg267His)	NC_000001.10:g.160097393G>A	VUS	1 lab	c2fcf6ba7a
8:6302646 MCPH1 C>A	8	6302646	6302646	C	A	MCPH1	c.1403C>A	NM_024596.5	NP_078872.3:p.(Thr468Asn)	NC_000008.10:g.6302646C>A	(Likely) benign	1 lab	c2fee3b68f
9:140289771 EXD3 G>A	9	140289771	140289771	G	A	EXD3	c.39C>T	NM_017820.5	NP_060290.3:p.(Gly13=)	NC_000009.11:g.140289771G>A	VUS	1 lab	c300cc8516
2:211512711 CPS1 G>A	2	211512711	211512711	G	A	CPS1	c.3266G>A	NM_001875.5	NP_001866.2:p.(Arg1089His)	NC_000002.11:g.211512711G>A	(Likely) pathogenic	1 lab	c3032d35eb
17:8701315 MFSD6L G>A	17	8701315	8701315	G	A	MFSD6L	c.1124C>T	NM_152599.4	NP_689812.3:p.(Thr375Ile)	NC_000017.10:g.8701315G>A	(Likely) benign	1 lab	c30625ccc4
1:231402086 GNPAT G>T	1	231402086	231402086	G	T	GNPAT	c.988G>T	NM_014236.4	NP_055051.1:p.(Asp330Tyr)	NC_000001.10:g.231402086G>T	VUS	1 lab	c3062c7aaa
17:59934570 BRIP1 T>C	17	59934570	59934570	T	C	BRIP1	c.228A>G	NM_032043.3	NP_114432.2:p.(Val76=)	NC_000017.10:g.59934570T>C	(Likely) benign	1 lab	c306a94d6a
1:27220774 GPATCH3 C>T	1	27220774	27220774	C	T	GPATCH3	c.1004G>A	NM_022078.3	NP_071361.2:p.(Gly335Asp)	NC_000001.10:g.27220774C>T	VUS	1 lab	c308ba435a
2:29293944 PCARE C>G	2	29293944	29293944	C	G	PCARE	c.3184G>C	NM_001029883.3	NP_001025054.1:p.(Glu1062Gln)	NC_000002.11:g.29293944C>G	(Likely) benign	1 lab	c3091bcaa0
20:46281170 NCOA3 C>A	20	46281170	46281170	C	A	NCOA3	c.3967C>A	NM_181659.3	NP_858045.1:p.(Pro1323Thr)	NC_000020.10:g.46281170C>A	VUS	1 lab	c30a502953
11:70666470 SHANK2 C>T	11	70666470	70666470	C	T	SHANK2	c.1492G>A	NM_012309.5	NP_036441.2:p.(Gly498Arg)	NC_000011.9:g.70666470C>T	VUS	1 lab	c30bdd36b8
7:155595805 SHH G>C	7	155595805	155595805	G	C	SHH	c.1178C>G	NM_000193.4	NP_000184.1:p.(Ala393Gly)	NC_000007.13:g.155595805G>C	(Likely) benign	1 lab	c30eb0ce54
12:14943486 WBP11 G>A	12	14943486	14943486	G	A	WBP11	c.1213C>T	NM_016312.3	NP_057396.1:p.(Pro405Ser)	NC_000012.11:g.14943486G>A	(Likely) benign	1 lab	c30f93c354
2:179482125 TTN A>G	2	179482125	179482125	A	G	TTN	c.47687T>C	NM_001267550.2	NP_001254479.2:p.(Ile15896Thr)	NC_000002.11:g.179482125A>G	VUS	1 lab	c30f998fa5
1:26511671 CNKSR1 G>GC	1	26511671	26511675	G	GC	CNKSR1	c.1306dup	NM_006314.3	NP_006305.2:p.(Gln436ProfsTer3)	NC_000001.10:g.26511675dup	VUS	1 lab	c30fbb2142
X:37865922 SYTL5 G>A	X	37865922	37865922	G	A	SYTL5	c.-357+1G>A	NM_138780.3	NP_620135.1:p.?	NC_000023.10:g.37865922G>A	(Likely) benign	1 lab	c311e48d44
X:123518711 TENM1 G>A	X	123518711	123518711	G	A	TENM1	c.6077-7C>T	NM_001163278.2	NP_001156750.1:p.?	NC_000023.10:g.123518711G>A	(Likely) benign	1 lab	c31212b60d
4:114294508 ANK2 AG>A	4	114294508	114294511	AG	A	ANK2	c.11765del	NM_001148.6	NP_001139.3:p.(Gly3922GlufsTer19)	NC_000004.11:g.114294511del	VUS	1 lab	c312352c97
6:157527821 ARID1B C>G	6	157527821	157527821	C	G	ARID1B	c.5915C>G	NM_001374828.1	NP_001361757.1:p.(Pro1972Arg)	NC_000006.11:g.157527821C>G	(Likely) benign	1 lab	c312578d1a
17:36485473 GPR179 C>T	17	36485473	36485473	C	T	GPR179	c.3979G>A	NM_001004334.4	NP_001004334.3:p.(Asp1327Asn)	NC_000017.10:g.36485473C>T	(Likely) benign	1 lab	c315c631bf
1:176563998 PAPPA2 C>T	1	176563998	176563998	C	T	PAPPA2	c.1258C>T	NM_020318.3	NP_064714.2:p.(Arg420Cys)	NC_000001.10:g.176563998C>T	VUS	1 lab	c3195dec90
2:11742575 GREB1 C>T	2	11742575	11742575	C	T	GREB1	c.2573C>T	NM_014668.4	NP_055483.2:p.(Ser858Leu)	NC_000002.11:g.11742575C>T	VUS	1 lab	c31ade3a33
X:24227196 ZFX G>A	X	24227196	24227196	G	A	ZFX	c.1234+39G>A	NM_003410.4	NP_003401.2:p.?	NC_000023.10:g.24227196G>A	(Likely) benign	1 lab	c31c4c69ec
5:176638534 NSD1 G>T	5	176638534	176638534	G	T	NSD1	c.3134G>T	NM_022455.5	NP_071900.2:p.(Arg1045Leu)	NC_000005.9:g.176638534G>T	VUS	1 lab	c31e5997a2
8:11532034 GATA4 A>G	8	11532034	11532034	A	G	GATA4				NC_000008.10:g.11532034A>G	VUS	1 lab	c3841acad3
14:105858100 PACS2 C>T	14	105858100	105858100	C	T	PACS2	c.2252C>T	NM_001100913.3	NP_001094383.2:p.(Pro751Leu)	NC_000014.8:g.105858100C>T	(Likely) benign	1 lab	c31fcb488d
2:179417517 TTN A>G	2	179417517	179417517	A	G	TTN	c.90110T>C	NM_001267550.2	NP_001254479.2:p.(Leu30037Pro)	NC_000002.11:g.179417517A>G	VUS	1 lab	c3218f4834
10:79670452 DLG5 G>A	10	79670452	79670452	G	A	DLG5	c.304+15523C>T	NM_004747.4	NP_004738.3:p.?	NC_000010.10:g.79670452G>A	(Likely) benign	1 lab	c321d4b752
17:48655740 CACNA1G C>T	17	48655740	48655740	C	T	CACNA1G	c.2116C>T	NM_018896.5	NP_061496.2:p.(Arg706Trp)	NC_000017.10:g.48655740C>T	VUS	1 lab	c322320e04
2:152522809 NEB T>G	2	152522809	152522809	T	G	NEB	c.4826A>C	NM_001164508.2	NP_001157980.2:p.(Gln1609Pro)	NC_000002.11:g.152522809T>G	VUS	1 lab	c3248cd8eb
14:21897172 CHD8 C>T	14	21897172	21897172	C	T	CHD8	c.1166G>A	NM_001170629.2	NP_001164100.1:p.(Ser389Asn)	NC_000014.8:g.21897172C>T	(Likely) benign	1 lab	c3274934d4
19:8661989 ADAMTS10 C>T	19	8661989	8661989	C	T	ADAMTS10	c.922G>A	NM_030957.4	NP_112219.3:p.(Gly308Arg)	NC_000019.9:g.8661989C>T	VUS	1 lab	c3278eebd5
4:79343159 FRAS1 T>C	4	79343159	79343159	T	C	FRAS1	c.4678+5T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79343159T>C	VUS	1 lab	c328061416
1:236883450 ACTN2 C>G	1	236883450	236883450	C	G	ACTN2	c.407C>G	NM_001103.4	NP_001094.1:p.(Thr136Ser)	NC_000001.10:g.236883450C>G	VUS	1 lab	c328c7e20a
4:81967610 BMP3 G>C	4	81967610	81967610	G	C	BMP3	c.1035G>C	NM_001201.5	NP_001192.4:p.(Lys345Asn)	NC_000004.11:g.81967610G>C	(Likely) benign	1 lab	c3293014a1
11:103027165 DYNC2H1 C>T	11	103027165	103027165	C	T	DYNC2H1	c.3793C>T	NM_001377.3	NP_001368.2:p.(Arg1265Cys)	NC_000011.9:g.103027165C>T	(Likely) pathogenic	1 lab	c329bcaab1
4:9218420 USP17L11 G>C	4	9218420	9218420	G	C	USP17L11	c.1290G>C	NM_001256854.1	NP_001243783.1:p.(Gln430His)	NC_000004.11:g.9218420G>C	(Likely) benign	1 lab	c32f2de5cc
19:48954420 GRWD1 C>T	19	48954420	48954420	C	T	GRWD1	c.955C>T	NM_031485.4	NP_113673.3:p.(Arg319Trp)	NC_000019.9:g.48954420C>T	VUS	1 lab	c32f65c4cc
9:138670848 KCNT1 C>G	9	138670848	138670848	C	G	KCNT1	c.2729+180C>G	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138670848C>G	(Likely) benign	1 lab	c33022c135
16:2153599 PKD1 C>A	16	2153599	2153599	C	A	PKD1	c.8459G>T	NM_001009944.3	NP_001009944.3:p.(Ser2820Ile)	NC_000016.9:g.2153599C>A	(Likely) benign	1 lab	c330bfe35a
2:103340351 SLC67A2 G>C	2	103340351	103340351	G	C	SLC67A2	c.445C>G	NM_032718.5	NP_116107.3:p.(Leu149Val)	NC_000002.11:g.103340351G>C	VUS	1 lab	c330c521b3
8:144993873 PLEC G>A	8	144993873	144993873	G	A	PLEC	c.10116C>T	NM_201384.3	NP_958786.1:p.(Tyr3372=)	NC_000008.10:g.144993873G>A	(Likely) benign	1 lab	c33176eb0f
X:53576215 HUWE1 G>A	X	53576215	53576215	G	A	HUWE1	c.9740C>T	NM_031407.7	NP_113584.3:p.(Thr3247Ile)	NC_000023.10:g.53576215G>A	VUS	1 lab	c332bf7e66
7:127254981 PAX4 G>A	7	127254981	127254981	G	A	PAX4	c.313C>T	NM_001366110.1	NP_001353039.1:p.(Arg105Cys)	NC_000007.13:g.127254981G>A	(Likely) benign	1 lab	c3349f39b3
2:197171847 HECW2 C>A	2	197171847	197171847	C	A	HECW2	c.2689+7G>T	NM_001348768.2	NP_001335697.1:p.?	NC_000002.11:g.197171847C>A	(Likely) benign	1 lab	c334a402be
20:31393220 DNMT3B CG>C	20	31393220	31393221	CG	C	DNMT3B	c.2301+8del	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31393221del	VUS	1 lab	c335cf3306
10:103292107 BTRC G>A	10	103292107	103292107	G	A	BTRC	c.896G>A	NM_033637.4	NP_378663.1:p.(Arg299Gln)	NC_000010.10:g.103292107G>A	VUS	1 lab	c33761b421
15:78894357 CHRNA3 G>C	15	78894357	78894357	G	C	CHRNA3	c.627C>G	NM_000743.5	NP_000734.2:p.(Ile209Met)	NC_000015.9:g.78894357G>C	VUS	1 lab	c33cba5c41
12:52164368 SCN8A G>A	12	52164368	52164368	G	A	SCN8A	c.3546G>A	NM_014191.4	NP_055006.1:p.(Lys1182=)	NC_000012.11:g.52164368G>A	(Likely) benign	1 lab	2a6d9321c9
11:540740 LRRC56 G>A	11	540740	540740	G	A	LRRC56	c.56G>A	NM_198075.4	NP_932341.1:p.(Arg19Gln)	NC_000011.9:g.540740G>A	(Likely) benign	1 lab	c3401575f9
15:64592625 CSNK1G1 C>A	15	64592625	64592625	C	A	CSNK1G1	c.74G>T	NM_022048.5	NP_071331.2:p.(Cys25Phe)	NC_000015.9:g.64592625C>A	(Likely) benign	1 lab	c3423f79e4
4:123868390 AFG2A A>G	4	123868390	123868390	A	G	AFG2A	c.1461A>G	NM_145207.3	NP_660208.2:p.(Glu487=)	NC_000004.11:g.123868390A>G	(Likely) benign	1 lab	c344314d4b
3:183882161 DVL3 G>A	3	183882161	183882161	G	A	DVL3	c.338G>A	NM_004423.4	NP_004414.3:p.(Arg113Gln)	NC_000003.11:g.183882161G>A	(Likely) benign	1 lab	c345213905
2:220098859 ANKZF1 A>C	2	220098859	220098859	A	C	ANKZF1	c.1053A>C	NM_018089.3	NP_060559.2:p.(Glu351Asp)	NC_000002.11:g.220098859A>C	VUS	1 lab	c3454dbbbf
18:66354900 TMX3 T>C	18	66354900	66354900	T	C	TMX3	c.736+4A>G	NM_019022.5	NP_061895.3:p.?	NC_000018.9:g.66354900T>C	(Likely) benign	1 lab	c34667b1f3
16:2149764 PKD1 GC>G	16	2149764	2149768	GC	G	PKD1	c.9930del	NM_001009944.3	NP_001009944.3:p.(His3311MetfsTer5)	NC_000016.9:g.2149768del	(Likely) pathogenic	1 lab	c346b33563
1:1277168 DVL1 G>A	1	1277168	1277168	G	A	DVL1	c.484C>T	NM_001330311.2	NP_001317240.1:p.(His162Tyr)	NC_000001.10:g.1277168G>A	(Likely) benign	1 lab	c348a944b0
15:99486132 IGF1R C>T	15	99486132	99486132	C	T	IGF1R	c.3458-20C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99486132C>T	(Likely) benign	1 lab	c348d4b59a
9:35807414 NPR2 G>A	9	35807414	35807414	G	A	NPR2	c.2712+19G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35807414G>A	(Likely) benign	1 lab	c348ee2505
20:62839241 MYT1 G>A	20	62839241	62839241	G	A	MYT1	c.692G>A	NM_004535.3	NP_004526.1:p.(Arg231His)	NC_000020.10:g.62839241G>A	(Likely) benign	1 lab	c34ab808b0
11:73811639 C2CD3 C>T	11	73811639	73811639	C	T	C2CD3	c.2663G>A	NM_001286577.2	NP_001273506.1:p.(Arg888Gln)	NC_000011.9:g.73811639C>T	VUS	1 lab	c34acc113f
6:170592464 DLL1 G>A	6	170592464	170592464	G	A	DLL1	c.1903C>T	NM_005618.4	NP_005609.3:p.(Arg635Cys)	NC_000006.11:g.170592464G>A	(Likely) benign	1 lab	c34bb15a95
5:56111435 MAP3K1 C>T	5	56111435	56111435	C	T	MAP3K1	c.35C>T	NM_005921.2	NP_005912.1:p.(Ser12Leu)	NC_000005.9:g.56111435C>T	VUS	1 lab	c34c4edc41
1:243471475 SDCCAG8 G>A	1	243471475	243471475	G	A	SDCCAG8	c.925G>A	NM_006642.5	NP_006633.1:p.(Val309Ile)	NC_000001.10:g.243471475G>A	(Likely) benign	1 lab	c34c536337
11:71164426 NADSYN1 G>T	11	71164426	71164426	G	T	NADSYN1	c.84G>T	NM_018161.5	NP_060631.2:p.(Lys28Asn)	NC_000011.9:g.71164426G>T	VUS	1 lab	c34db08803
19:41110965 LTBP4 A>G	19	41110965	41110965	A	G	LTBP4	c.275A>G	NM_001042545.2	NP_001036010.1:p.(Asn92Ser)	NC_000019.9:g.41110965A>G	VUS	1 lab	c352713b2d
8:38103754 DDHD2 C>T	8	38103754	38103754	C	T	DDHD2	c.1061C>T	NM_015214.3	NP_056029.2:p.(Ser354Leu)	NC_000008.10:g.38103754C>T	VUS	1 lab	c3529934ba
11:102984836 DYNC2H1 A>G	11	102984836	102984836	A	G	DYNC2H1	c.371A>G	NM_001377.3	NP_001368.2:p.(Gln124Arg)	NC_000011.9:g.102984836A>G	(Likely) benign	1 lab	c352a1c2ce
17:48276667 COL1A1 G>C	17	48276667	48276667	G	C	COL1A1	c.391C>G	NM_000088.4	NP_000079.2:p.(Arg131Gly)	NC_000017.10:g.48276667G>C	(Likely) benign	1 lab	c353fc7ee5
1:52704330 ZFYVE9 A>C	1	52704330	52704330	A	C	ZFYVE9	c.1241A>C	NM_004799.4	NP_004790.2:p.(Gln414Pro)	NC_000001.10:g.52704330A>C	(Likely) benign	1 lab	c35403348b
12:57585281 LRP1 A>G	12	57585281	57585281	A	G	LRP1	c.7415A>G	NM_002332.3	NP_002323.2:p.(Asn2472Ser)	NC_000012.11:g.57585281A>G	(Likely) benign	1 lab	c355e6e2b8
2:112543052 ANAPC1 T>C	2	112543052	112543052	T	C	ANAPC1	c.4802A>G	NM_022662.4	NP_073153.1:p.(Tyr1601Cys)	NC_000002.11:g.112543052T>C	VUS	1 lab	c35868699f
21:46876044 COL18A1 G>T	21	46876044	46876044	G	T	COL18A1	c.107-12112G>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46876044G>T	(Likely) benign	1 lab	c35a7b9074
17:73945628 ACOX1 C>T	17	73945628	73945628	C	T	ACOX1	c.1532G>A	NM_004035.7	NP_004026.2:p.(Ser511Asn)	NC_000017.10:g.73945628C>T	VUS	1 lab	c35b76f3d8
9:731224 KANK1 A>G	9	731224	731224	A	G	KANK1	c.2963A>G	NM_015158.5	NP_055973.2:p.(Asn988Ser)	NC_000009.11:g.731224A>G	(Likely) benign	1 lab	c35d724112
17:38297003 CASC3 G>C	17	38297003	38297003	G	C	CASC3	c.202G>C	NM_007359.5	NP_031385.2:p.(Gly68Arg)	NC_000017.10:g.38297003G>C	VUS	1 lab	c35e4c8f39
16:72821638 ZFHX3 T>C	16	72821638	72821638	T	C	ZFHX3	c.10537A>G	NM_006885.4	NP_008816.3:p.(Ser3513Gly)	NC_000016.9:g.72821638T>C	(Likely) benign	1 lab	c35e967dcd
10:45486414 RASSF4 A>G	10	45486414	45486414	A	G	RASSF4	c.704A>G	NM_032023.4	NP_114412.2:p.(Asp235Gly)	NC_000010.10:g.45486414A>G	VUS	1 lab	c35eade371
16:55530864 MMP2 G>A	16	55530864	55530864	G	A	MMP2	c.1499G>A	NM_004530.6	NP_004521.1:p.(Arg500His)	NC_000016.9:g.55530864G>A	(Likely) benign	1 lab	c360cad221
12:6715527 CHD4 G>A	12	6715527	6715527	G	A	CHD4	c.13C>T	NM_001273.5	NP_001264.2:p.(Leu5=)	NC_000012.11:g.6715527G>A	(Likely) benign	1 lab	c3613681cb
11:66455683 SPTBN2 C>G	11	66455683	66455683	C	G	SPTBN2	c.6331G>C	NM_006946.4	NP_008877.2:p.(Asp2111His)	NC_000011.9:g.66455683C>G	VUS	1 lab	c361cafbc4
17:7753231 KDM6B G>T	17	7753231	7753231	G	T	KDM6B	c.3533G>T	NM_001348716.2	NP_001335645.1:p.(Arg1178Leu)	NC_000017.10:g.7753231G>T	(Likely) benign	1 lab	c36378fe92
2:33172688 LTBP1 A>ACCGCCG	2	33172688	33172709	A	ACCGCCG	LTBP1	c.313_318dup	NM_206943.4	NP_996826.3:p.(Pro105_Pro106dup)	NC_000002.11:g.33172704_33172709dup	VUS	1 lab	c3640be479
1:161087803 PFDN2 C>G	1	161087803	161087803	C	G	PFDN2	c.14G>C	NM_012394.4	NP_036526.2:p.(Ser5Thr)	NC_000001.10:g.161087803C>G	(Likely) benign	1 lab	c36621cb22
15:34134154 RYR3 G>A	15	34134154	34134154	G	A	RYR3	c.13127G>A	NM_001036.6	NP_001027.3:p.(Arg4376Gln)	NC_000015.9:g.34134154G>A	(Likely) benign	1 lab	c36676d7e4
11:67257928 AIP G>A	11	67257928	67257928	G	A	AIP	c.787G>A	NM_003977.4	NP_003968.3:p.(Asp263Asn)	NC_000011.9:g.67257928G>A	VUS	1 lab	c367963cd3
2:219922380 IHH C>A	2	219922380	219922380	C	A	IHH	c.352G>T	NM_002181.4	NP_002172.2:p.(Val118Leu)	NC_000002.11:g.219922380C>A	VUS	1 lab	c36938ebbd
9:131374090 SPTAN1 G>A	9	131374090	131374090	G	A	SPTAN1	c.4871G>A	NM_001130438.3	NP_001123910.1:p.(Arg1624His)	NC_000009.11:g.131374090G>A	(Likely) benign	1 lab	c36bd3344a
10:127462768 MMP21 G>A	10	127462768	127462768	G	A	MMP21	c.329C>T	NM_147191.1	NP_671724.1:p.(Ala110Val)	NC_000010.10:g.127462768G>A	VUS	1 lab	c36c604d9f
5:150859058 SLC36A1 G>C	5	150859058	150859058	G	C	SLC36A1	c.1159+8G>C	NM_078483.4	NP_510968.2:p.?	NC_000005.9:g.150859058G>C	(Likely) benign	1 lab	c36da4501a
17:80878435 TBCD G>T	17	80878435	80878435	G	T	TBCD	c.2042G>T	NM_005993.5	NP_005984.3:p.(Cys681Phe)	NC_000017.10:g.80878435G>T	(Likely) benign	1 lab	c36e01cccf
1:152190230 HRNR C>T	1	152190230	152190230	C	T	HRNR	c.3875G>A	NM_001009931.3	NP_001009931.1:p.(Gly1292Glu)	NC_000001.10:g.152190230C>T	VUS	1 lab	c36ed51c46
22:21341844 LZTR1 C>T	22	21341844	21341844	C	T	LZTR1	c.372C>T	NM_006767.4	NP_006758.2:p.(Val124=)	NC_000022.10:g.21341844C>T	VUS	1 lab	c36f2440b8
8:22064369 BMP1 G>A	8	22064369	22064369	G	A	BMP1	c.2236G>A	NM_006129.5	NP_006120.1:p.(Gly746Ser)	NC_000008.10:g.22064369G>A	VUS	1 lab	c464a02316
14:94046618 UNC79 G>A	14	94046618	94046618	G	A	UNC79	c.2557G>A	NM_001395159.1	NP_001382088.1:p.(Glu853Lys)	NC_000014.8:g.94046618G>A	(Likely) benign	1 lab	c36f4176d2
11:17582640 OTOG C>T	11	17582640	17582640	C	T	OTOG	c.1454C>T	NM_001292063.2	NP_001278992.1:p.(Thr485Ile)	NC_000011.9:g.17582640C>T	VUS	1 lab	c36f73d592
18:48190540 MAPK4 G>A	18	48190540	48190540	G	A	MAPK4	c.212G>A	NM_002747.4	NP_002738.2:p.(Arg71His)	NC_000018.9:g.48190540G>A	VUS	1 lab	c3ca9d65b3
2:233413392 TIGD1 CTGTTAA>C	2	233413392	233413402	CTGTTAA	C	TIGD1	c.1195_1200del	NM_145702.4	NP_663748.1:p.(Leu399_Thr400del)	NC_000002.11:g.233413397_233413402del	(Likely) benign	1 lab	c36feecf7b
9:115812140 ZFP37 G>T	9	115812140	115812140	G	T	ZFP37	c.145C>A	NM_003408.3	NP_003399.1:p.(Leu49Met)	NC_000009.11:g.115812140G>T	(Likely) benign	1 lab	c370540bcd
9:101540550 ANKS6 G>T	9	101540550	101540550	G	T	ANKS6	c.1525C>A	NM_173551.5	NP_775822.3:p.(Arg509Ser)	NC_000009.11:g.101540550G>T	(Likely) benign	1 lab	c3711be94c
19:13220284 TRMT1 C>T	19	13220284	13220284	C	T	TRMT1	c.1312-4G>A	NM_001136035.4	NP_001129507.1:p.?	NC_000019.9:g.13220284C>T	(Likely) benign	1 lab	c3741c3b45
X:41056609 USP9X T>C	X	41056609	41056609	T	C	USP9X	c.4234-8T>C	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.41056609T>C	VUS	1 lab	c374650a22
12:7244255 C1R C>A	12	7244255	7244255	C	A	C1R	c.66G>T	NM_001354346.2	NP_001341275.1:p.(Val22=)	NC_000012.11:g.7244255C>A	(Likely) benign	1 lab	2c6f3ac1ee
1:201169443 IGFN1 C>T	1	201169443	201169443	C	T	IGFN1	c.537C>T	NM_001164586.2	NP_001158058.1:p.(Tyr179=)	NC_000001.10:g.201169443C>T	(Likely) benign	1 lab	c374b80b20
19:18272233 PIK3R2 CCA>C	19	18272233	18272236	CCA	C	PIK3R2	c.745_746del	NM_005027.4	NP_005018.2:p.(Thr249LeufsTer25)	NC_000019.9:g.18272235_18272236del	VUS	1 lab	c374c82bd0
6:79727251 PHIP A>C	6	79727251	79727251	A	C	PHIP	c.1044T>G	NM_017934.7	NP_060404.4:p.(Tyr348Ter)	NC_000006.11:g.79727251A>C	(Likely) pathogenic	1 lab	c375f2ae2e
1:156843527 NTRK1 A>G	1	156843527	156843527	A	G	NTRK1	c.953A>G	NM_002529.4	NP_002520.2:p.(Asn318Ser)	NC_000001.10:g.156843527A>G	VUS	1 lab	c3760a8a27
4:126371767 FAT4 A>G	4	126371767	126371767	A	G	FAT4	c.9602A>G	NM_001291303.3	NP_001278232.1:p.(Tyr3201Cys)	NC_000004.11:g.126371767A>G	VUS	1 lab	c3774696fd
19:15295827 NOTCH3 C>T	19	15295827	15295827	C	T	NOTCH3	c.2300G>A	NM_000435.3	NP_000426.2:p.(Arg767His)	NC_000019.9:g.15295827C>T	(Likely) benign	1 lab	c3775c608a
7:31011724 GHRHR G>A	7	31011724	31011724	G	A	GHRHR	c.597+14G>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31011724G>A	(Likely) benign	1 lab	c37ac0cc17
X:39932923 BCOR C>T	X	39932923	39932923	C	T	BCOR	c.1676G>A	NM_001123385.2	NP_001116857.1:p.(Gly559Glu)	NC_000023.10:g.39932923C>T	VUS	1 lab	c37d7fc7dd
19:46285514 DMPK G>A	19	46285514	46285514	G	A	DMPK	c.97C>T	NM_004409.5	NP_004400.4:p.(His33Tyr)	NC_000019.9:g.46285514G>A	(Likely) benign	1 lab	c37da26173
2:233128075 DIS3L2 C>T	2	233128075	233128075	C	T	DIS3L2	c.1584C>T	NM_152383.5	NP_689596.4:p.(Ala528=)	NC_000002.11:g.233128075C>T	(Likely) benign	1 lab	c37f5da3a6
19:18893905 COMP T>A	19	18893905	18893905	T	A	COMP	c.2186A>T	NM_000095.3	NP_000086.2:p.(Gln729Leu)	NC_000019.9:g.18893905T>A	(Likely) pathogenic	1 lab	c380c9b333
4:3443769 HGFAC C>T	4	3443769	3443769	C	T	HGFAC	c.41C>T	NM_001528.4	NP_001519.1:p.(Pro14Leu)	NC_000004.11:g.3443769C>T	(Likely) benign	1 lab	c381b359a1
2:179594634 TTN C>T	2	179594634	179594634	C	T	TTN	c.18346G>A	NM_001267550.2	NP_001254479.2:p.(Val6116Met)	NC_000002.11:g.179594634C>T	VUS	1 lab	c382a848a2
19:17305682 MYO9B A>G	19	17305682	17305682	A	G	MYO9B	c.3446A>G	NM_004145.4	NP_004136.2:p.(Glu1149Gly)	NC_000019.9:g.17305682A>G	VUS	1 lab	c382fa352f
16:30976756 SETD1A T>A	16	30976756	30976756	T	A	SETD1A	c.1693T>A	NM_014712.3	NP_055527.1:p.(Ser565Thr)	NC_000016.9:g.30976756T>A	(Likely) benign	1 lab	c383bb062b
7:122774558 SLC13A1 T>C	7	122774558	122774558	T	C	SLC13A1	c.838A>G	NM_022444.4	NP_071889.2:p.(Asn280Asp)	NC_000007.13:g.122774558T>C	VUS	1 lab	c383e5db0b
13:111142076 COL4A2 TA>T	13	111142076	111142079	TA	T	COL4A2	c.3293del	NM_001846.4	NP_001837.2:p.(Asn1098IlefsTer8)	NC_000013.10:g.111142079del	(Likely) pathogenic	1 lab	c38503ad97
7:50534928 DDC A>G	7	50534928	50534928	A	G	DDC	c.1226T>C	NM_001082971.2	NP_001076440.2:p.(Val409Ala)	NC_000007.13:g.50534928A>G	VUS	1 lab	c38538d4d2
22:42968537 SERHL2 T>A	22	42968537	42968537	T	A	SERHL2	c.825+2T>A	NM_014509.5	NP_055324.2:p.?	NC_000022.10:g.42968537T>A	VUS	1 lab	c387ab6b36
19:5696169 LONP1 A>C	19	5696169	5696169	A	C	LONP1	c.1909T>G	NM_004793.4	NP_004784.2:p.(Cys637Gly)	NC_000019.9:g.5696169A>C	VUS	1 lab	c387c12946
21:27264120 APP C>T	21	27264120	27264120	C	T	APP	c.2125G>A	NM_000484.4	NP_000475.1:p.(Gly709Ser)	NC_000021.8:g.27264120C>T	VUS	1 lab	c3895fdfc7
20:47866058 ZNFX1 C>T	20	47866058	47866058	C	T	ZNFX1	c.3503G>A	NM_021035.3	NP_066363.1:p.(Arg1168His)	NC_000020.10:g.47866058C>T	VUS	1 lab	c389a18c1d
8:41577121 ANK1 C>G	8	41577121	41577121	C	G	ANK1	c.1107+58G>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41577121C>G	(Likely) benign	1 lab	2c6fd156f9
2:111406857 BUB1 C>T	2	111406857	111406857	C	T	BUB1	c.2301G>A	NM_004336.5	NP_004327.1:p.(Trp767Ter)	NC_000002.11:g.111406857C>T	VUS	1 lab	c38cbdf96f
14:95557563 DICER1 T>G	14	95557563	95557563	T	G	DICER1	c.5504A>C	NM_177438.3	NP_803187.1:p.(Tyr1835Ser)	NC_000014.8:g.95557563T>G	VUS	1 lab	c38d3d6118
12:57588181 LRP1 G>A	12	57588181	57588181	G	A	LRP1	c.7963G>A	NM_002332.3	NP_002323.2:p.(Val2655Met)	NC_000012.11:g.57588181G>A	VUS	1 lab	c3915f7508
16:68265896 ESRP2 G>T	16	68265896	68265896	G	T	ESRP2	c.1108C>A	NM_024939.3	NP_079215.2:p.(Pro370Thr)	NC_000016.9:g.68265896G>T	VUS	1 lab	c392df75da
16:71149617 HYDIN T>C	16	71149617	71149617	T	C	HYDIN	c.1309A>G	NM_001270974.2	NP_001257903.1:p.(Ile437Val)	NC_000016.9:g.71149617T>C	(Likely) benign	1 lab	c39539eba7
16:4797576 DNAAF8 GAGCCAGGGGC>G	16	4797576	4797594	GAGCCAGGGGC	G	DNAAF8	c.1522_1531del	NM_139170.3	NP_631909.2:p.(Ala508ArgfsTer3)	NC_000016.9:g.4797585_4797594del	VUS	1 lab	c395b5f1a9
X:49033371 PRICKLE3 C>T	X	49033371	49033371	C	T	PRICKLE3	c.1136G>A	NM_006150.5	NP_006141.2:p.(Arg379His)	NC_000023.10:g.49033371C>T	VUS	1 lab	c397165262
1:3800298 DFFB G>A	1	3800298	3800298	G	A	DFFB	c.1010G>A	NM_004402.4	NP_004393.1:p.(Arg337His)	NC_000001.10:g.3800298G>A	(Likely) benign	1 lab	c397382eea
10:61833945 ANK3 G>A	10	61833945	61833945	G	A	ANK3	c.6694C>T	NM_020987.5	NP_066267.2:p.(Arg2232Trp)	NC_000010.10:g.61833945G>A	(Likely) benign	1 lab	c39a4e6259
10:81058226 ZMIZ1 C>G	10	81058226	81058226	C	G	ZMIZ1	c.1555C>G	NM_020338.4	NP_065071.1:p.(Pro519Ala)	NC_000010.10:g.81058226C>G	VUS	1 lab	c39deeece5
8:145742021 RECQL4 T>C	8	145742021	145742021	T	C	RECQL4	c.482A>G	NM_004260.4	NP_004251.4:p.(Gln161Arg)	NC_000008.10:g.145742021T>C	VUS	1 lab	c39e13516b
2:131098505 VMA22 G>C	2	131098505	131098505	G	C	VMA22	c.406C>G	NM_032357.4	NP_115733.2:p.(Gln136Glu)	NC_000002.11:g.131098505G>C	VUS	1 lab	c39f7771e7
1:17312769 ATP13A2 G>A	1	17312769	17312769	G	A	ATP13A2	c.3490C>T	NM_022089.4	NP_071372.1:p.(Arg1164Ter)	NC_000001.10:g.17312769G>A	VUS	1 lab	c39fe412e8
X:48690511 PCSK1N A>G	X	48690511	48690511	A	G	PCSK1N	c.355T>C	NM_013271.5	NP_037403.1:p.(Ser119Pro)	NC_000023.10:g.48690511A>G	VUS	1 lab	c3a00186bc
X:99658500 PCDH19 A>G	X	99658500	99658500	A	G	PCDH19	c.2288+22T>C	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99658500A>G	(Likely) benign	1 lab	2c706708f6
1:240370940 FMN2 C>T	1	240370940	240370940	C	T	FMN2	c.2828C>T	NM_020066.5	NP_064450.3:p.(Pro943Leu)	NC_000001.10:g.240370940C>T	VUS	1 lab	c3a4a7d14e
17:79911003 NOTUM C>G	17	79911003	79911003	C	G	NOTUM	c.1325G>C	NM_178493.6	NP_848588.3:p.(Trp442Ser)	NC_000017.10:g.79911003C>G	VUS	1 lab	c3a4fe070d
13:26114477 ATP8A2 AT>A	13	26114477	26114478	AT	A	ATP8A2	c.603del	NM_016529.6	NP_057613.4:p.(Tyr201Ter)	NC_000013.10:g.26114478del	VUS	1 lab	c3a5649e2b
4:1961228 NSD2 T>C	4	1961228	1961228	T	C	NSD2	c.3016T>C	NM_001042424.3	NP_001035889.1:p.(Tyr1006His)	NC_000004.11:g.1961228T>C	VUS	1 lab	c3a56cd5cb
X:7811851 VCX GAGGTGGAAGAACCACTGAGTCAGGAGAGCC>G	X	7811851	7811888	GAGGTGGAAGAACCACTGAGTCAGGAGAGCC	G	VCX	c.423_452del	NM_001393662.1	NP_001380591.1:p.(Gln149_Ser158del)	NC_000023.10:g.7811859_7811888del	VUS	1 lab	c3a68129a0
17:56291610 MKS1 C>T	17	56291610	56291610	C	T	MKS1	c.644+10G>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56291610C>T	(Likely) benign	1 lab	c3a6e7c4da
21:44837477 SIK1 G>A	21	44837477	44837477	G	A	SIK1	c.1922C>T	NM_173354.5	NP_775490.2:p.(Ala641Val)	NC_000021.8:g.44837477G>A	VUS	1 lab	c3a8acbabb
2:220435436 OBSL1 GT>G	2	220435436	220435437	GT	G	OBSL1	c.518del	NM_015311.3	NP_056126.1:p.(Asp173AlafsTer85)	NC_000002.11:g.220435437del	VUS	1 lab	c3a8cf4925
19:38980792 RYR1 G>A	19	38980792	38980792	G	A	RYR1	c.5891G>A	NM_000540.3	NP_000531.2:p.(Arg1964His)	NC_000019.9:g.38980792G>A	VUS	1 lab	c3a95e3b86
17:43912021 CRHR1 G>A	17	43912021	43912021	G	A	CRHR1	c.1139G>A	NM_004382.5	NP_004373.2:p.(Arg380Gln)	NC_000017.10:g.43912021G>A	(Likely) benign	1 lab	c3aa439d07
22:37098522 CACNG2 G>C	22	37098522	37098522	G	C	CACNG2	c.100C>G	NM_006078.5	NP_006069.1:p.(Leu34Val)	NC_000022.10:g.37098522G>C	VUS	1 lab	c3aa5147c4
19:3645964 PIP5K1C T>C	19	3645964	3645964	T	C	PIP5K1C	c.1345+8A>G	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3645964T>C	(Likely) benign	1 lab	c3ac1f18b0
9:2152356 SMARCA2 C>A	9	2152356	2152356	C	A	SMARCA2	c.3982-9330C>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2152356C>A	(Likely) benign	1 lab	c3acbaf99a
15:31793789 OTUD7A A>AG	15	31793789	31793796	A	AG	OTUD7A	c.1171+103dup	NM_001382637.1	NP_001369566.1:p.?	NC_000015.9:g.31793796dup	(Likely) benign	1 lab	c3ad9dd506
X:15544185 BMX C>T	X	15544185	15544185	C	T	BMX	c.851C>T	NM_203281.3	NP_975010.1:p.(Ser284Leu)	NC_000023.10:g.15544185C>T	(Likely) benign	1 lab	c3b1bc0518
16:84118584 MBTPS1 T>G	16	84118584	84118584	T	G	MBTPS1	c.1286+4A>C	NM_003791.4	NP_003782.1:p.?	NC_000016.9:g.84118584T>G	VUS	1 lab	c3b1bdaf99
10:127530307 DHX32 G>C	10	127530307	127530307	G	C	DHX32	c.1543+5C>G	NM_018180.3	NP_060650.2:p.?	NC_000010.10:g.127530307G>C	VUS	1 lab	c3b2e6c3a4
1:231557413 EGLN1 A>C	1	231557413	231557413	A	C	EGLN1	c.222T>G	NM_022051.3	NP_071334.1:p.(His74Gln)	NC_000001.10:g.231557413A>C	(Likely) benign	1 lab	c3b4bc1f8b
4:170327792 NEK1 A>G	4	170327792	170327792	A	G	NEK1	c.3329T>C	NM_001199397.3	NP_001186326.1:p.(Ile1110Thr)	NC_000004.11:g.170327792A>G	(Likely) benign	1 lab	c3b5186f9f
3:138664862 FOXL2 C>T	3	138664862	138664862	C	T	FOXL2	c.703G>A	NM_023067.4	NP_075555.1:p.(Gly235Ser)	NC_000003.11:g.138664862C>T	(Likely) benign	1 lab	c3b5d73412
22:40662390 TNRC6B C>T	22	40662390	40662390	C	T	TNRC6B	c.2156C>T	NM_001162501.2	NP_001155973.1:p.(Pro719Leu)	NC_000022.10:g.40662390C>T	(Likely) benign	1 lab	c3b69e54bd
16:3304380 MEFV C>G	16	3304380	3304380	C	G	MEFV	c.688G>C	NM_000243.2	NP_000234.1:p.(Glu230Gln)	NC_000016.9:g.3304380C>G	VUS	1 lab	2c766d8b24
10:79593690 DLG5 C>T	10	79593690	79593690	C	T	DLG5	c.1730G>A	NM_004747.4	NP_004738.3:p.(Arg577His)	NC_000010.10:g.79593690C>T	VUS	1 lab	c3b7e72563
5:14487626 TRIO G>GGCGGCA	5	14487626	14487636	G	GGCGGCA	TRIO	c.6894_6899dup	NM_007118.4	NP_009049.2:p.(Ser2299_Gly2300dup)	NC_000005.9:g.14487631_14487636dup	(Likely) benign	1 lab	c3ba43398a
2:148693270 ORC4 G>A	2	148693270	148693270	G	A	ORC4	c.1123-3C>T	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148693270G>A	(Likely) benign	1 lab	c3ba71d4cc
3:128204654 GATA2 C>T	3	128204654	128204654	C	T	GATA2	c.787G>A	NM_032638.4	NP_116027.2:p.(Gly263Arg)	NC_000003.11:g.128204654C>T	(Likely) benign	1 lab	3310b2744f
2:227896870 COL4A4 G>T	2	227896870	227896870	G	T	COL4A4	c.3700C>A	NM_000092.5	NP_000083.3:p.(Pro1234Thr)	NC_000002.11:g.227896870G>T	VUS	1 lab	c3bb1ee79d
5:79031604 CMYA5 A>G	5	79031604	79031604	A	G	CMYA5	c.7016A>G	NM_153610.5	NP_705838.3:p.(His2339Arg)	NC_000005.9:g.79031604A>G	VUS	1 lab	c3bb382d84
20:35882613 GHRH C>G	20	35882613	35882613	C	G	GHRH	c.308G>C	NM_021081.6	NP_066567.1:p.(Ser103Thr)	NC_000020.10:g.35882613C>G	VUS	1 lab	c3bbfc8e8c
11:113073090 NCAM1 T>TGTTTTGTTTC	11	113073090	113073096	T	TGTTTTGTTTC	NCAM1	c.53-6_53-5insGTTTCGTTTT	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113073095_113073096insGTTTCGTTTT	(Likely) benign	1 lab	c3bd5f5f64
5:36962325 NIPBL A>G	5	36962325	36962325	A	G	NIPBL	c.559A>G	NM_133433.4	NP_597677.2:p.(Met187Val)	NC_000005.9:g.36962325A>G	(Likely) benign	1 lab	c3bd978444
3:194062675 CPN2 T>C	3	194062675	194062675	T	C	CPN2	c.757A>G	NM_001080513.4	NP_001073982.3:p.(Ile253Val)	NC_000003.11:g.194062675T>C	(Likely) benign	1 lab	c3bf52e928
1:2160227 SKI C>A	1	2160227	2160227	C	A	SKI	c.22C>A	NM_003036.4	NP_003027.1:p.(Arg8Ser)	NC_000001.10:g.2160227C>A	(Likely) benign	1 lab	c3c04734d9
13:108862644 LIG4 T>C	13	108862644	108862644	T	C	LIG4	c.973A>G	NM_206937.2	NP_996820.1:p.(Ile325Val)	NC_000013.10:g.108862644T>C	VUS	1 lab	c3c28edd77
5:157159969 THG1L GGA>AGT	5	157159969	157159971	GGA	AGT	THG1L	c.285_287delinsAGT	NM_017872.5	NP_060342.2:p.(Asp96Val)	NC_000005.9:g.157159969_157159971delinsAGT	VUS	1 lab	c3c316ffe3
16:1273424 TPSG1 C>T	16	1273424	1273424	C	T	TPSG1	c.244G>A	NM_012467.4	NP_036599.4:p.(Gly82Arg)	NC_000016.9:g.1273424C>T	(Likely) benign	1 lab	c3c3fa5632
3:38051980 PLCD1 GC>G	3	38051980	38051981	GC	G	PLCD1	c.926del	NM_001130964.2	NP_001124436.1:p.(Ser309ThrfsTer33)	NC_000003.11:g.38051981del	(Likely) pathogenic	1 lab	2a721fff18
22:50962606 SCO2 T>TCAGGGCCAGCCAGGCCCCAC	22	50962606	50962627	T	TCAGGGCCAGCCAGGCCCCAC	SCO2	c.215_234dup	NM_005138.3	NP_005129.2:p.(Arg79ValfsTer7)	NC_000022.10:g.50962608_50962627dup	VUS	1 lab	c3c5a84ff0
4:83827649 THAP9 A>G	4	83827649	83827649	A	G	THAP9	c.449A>G	NM_024672.6	NP_078948.3:p.(Lys150Arg)	NC_000004.11:g.83827649A>G	(Likely) benign	1 lab	c3c5b86c71
17:34325338 CCL15 C>T	17	34325338	34325338	C	T	CCL15	c.226G>A	NM_032965.6	NP_116741.2:p.(Glu76Lys)	NC_000017.10:g.34325338C>T	(Likely) benign	1 lab	c3c5b9b4aa
12:46244356 ARID2 A>C	12	46244356	46244356	A	C	ARID2	c.2450A>C	NM_152641.4	NP_689854.2:p.(Gln817Pro)	NC_000012.11:g.46244356A>C	VUS	1 lab	c3c9a2bdbe
1:226065152 TMEM63A CT>C	1	226065152	226065153	CT	C	TMEM63A	c.128del	NM_014698.3	NP_055513.2:p.(Gln43ArgfsTer14)	NC_000001.10:g.226065153del	VUS	1 lab	c3c9a97fc7
6:152671811 SYNE1 A>G	6	152671811	152671811	A	G	SYNE1	c.11675T>C	NM_182961.4	NP_892006.3:p.(Leu3892Ser)	NC_000006.11:g.152671811A>G	VUS	1 lab	c3ca238635
8:103225061 RRM2B C>G	8	103225061	103225061	C	G	RRM2B	c.846G>C	NM_015713.5	NP_056528.2:p.(Met282Ile)	NC_000008.10:g.103225061C>G	(Likely) pathogenic	1 lab	c3caf7990b
16:706846 WDR90 G>A	16	706846	706846	G	A	WDR90	c.2317G>A	NM_145294.5	NP_660337.3:p.(Ala773Thr)	NC_000016.9:g.706846G>A	(Likely) benign	1 lab	c3cb41a155
22:36055507 APOL6 G>T	22	36055507	36055507	G	T	APOL6	c.896G>T	NM_030641.4	NP_085144.1:p.(Arg299Met)	NC_000022.10:g.36055507G>T	(Likely) benign	1 lab	c3cc67e9f6
7:140477830 BRAF T>C	7	140477830	140477830	T	C	BRAF	c.1478A>G	NM_004333.6	NP_004324.2:p.(Gln493Arg)	NC_000007.13:g.140477830T>C	VUS	1 lab	c3ccc120cf
4:1373869 UVSSA G>A	4	1373869	1373869	G	A	UVSSA	c.1603G>A	NM_020894.4	NP_065945.2:p.(Glu535Lys)	NC_000004.11:g.1373869G>A	VUS	1 lab	c3cd31ae02
8:77617469 ZFHX4 A>T	8	77617469	77617469	A	T	ZFHX4	c.1146A>T	NM_024721.5	NP_078997.4:p.(Leu382Phe)	NC_000008.10:g.77617469A>T	VUS	1 lab	c3ceb6616b
4:1348987 UVSSA A>G	4	1348987	1348987	A	G	UVSSA	c.1130A>G	NM_020894.4	NP_065945.2:p.(Lys377Arg)	NC_000004.11:g.1348987A>G	(Likely) benign	1 lab	c3cf5ec22b
X:151900391 MAGEA12 C>T	X	151900391	151900391	C	T	MAGEA12	c.410G>A	NM_001166387.4	NP_001159859.1:p.(Gly137Glu)	NC_000023.10:g.151900391C>T	VUS	1 lab	c3d2efed37
6:87966982 ZNF292 A>C	6	87966982	87966982	A	C	ZNF292	c.3635A>C	NM_015021.3	NP_055836.1:p.(Asn1212Thr)	NC_000006.11:g.87966982A>C	(Likely) benign	1 lab	c3d34c5142
21:47783404 PCNT A>G	21	47783404	47783404	A	G	PCNT	c.2164A>G	NM_006031.6	NP_006022.3:p.(Asn722Asp)	NC_000021.8:g.47783404A>G	(Likely) benign	1 lab	c3d44419fb
15:100794333 ADAMTS17 A>C	15	100794333	100794333	A	C	ADAMTS17	c.1075+8T>G	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100794333A>C	(Likely) benign	1 lab	c3d521d439
20:44520237 CTSA CCTGCTGCTGCTG>C	20	44520237	44520263	CCTGCTGCTGCTG	C	CTSA	c.45_56del	NM_000308.4	NP_000299.3:p.(Leu16_Leu19del)	NC_000020.10:g.44520252_44520263del	VUS	1 lab	c3d592bc55
4:1803617 FGFR3 G>A	4	1803617	1803617	G	A	FGFR3	c.795G>A	NM_000142.5	NP_000133.1:p.(Ala265=)	NC_000004.11:g.1803617G>A	(Likely) benign	1 lab	c3d62c3d68
X:153042686 PLXNB3 G>A	X	153042686	153042686	G	A	PLXNB3	c.4951G>A	NM_005393.3	NP_005384.2:p.(Glu1651Lys)	NC_000023.10:g.153042686G>A	(Likely) benign	1 lab	c3d80b10ed
20:21687379 PAX1 G>A	20	21687379	21687379	G	A	PAX1	c.590G>A	NM_001257096.2	NP_001244025.1:p.(Arg197His)	NC_000020.10:g.21687379G>A	VUS	1 lab	c3d8b6616b
3:9785523 BRPF1 G>T	3	9785523	9785523	G	T	BRPF1	c.2573G>T	NM_001003694.2	NP_001003694.1:p.(Cys858Phe)	NC_000003.11:g.9785523G>T	VUS	1 lab	c3e5009322
16:28844405 ATXN2L A>G	16	28844405	28844405	A	G	ATXN2L	c.1685A>G	NM_007245.4	NP_009176.2:p.(Asn562Ser)	NC_000016.9:g.28844405A>G	(Likely) benign	1 lab	c3d935d25a
1:182856329 DHX9 TGGAGGCTATGGTAGC>T	1	182856329	182856356	TGGAGGCTATGGTAGC	T	DHX9	c.3586_3600del	NM_001357.5	NP_001348.2:p.(Ser1196_Gly1200del)	NC_000001.10:g.182856342_182856356del	(Likely) benign	1 lab	c3da18a728
12:117013808 MAP1LC3B2 C>T	12	117013808	117013808	C	T	MAP1LC3B2	c.61C>T	NM_001085481.3	NP_001078950.1:p.(Arg21Ter)	NC_000012.11:g.117013808C>T	VUS	1 lab	2c78884efb
8:90995048 NBN C>A	8	90995048	90995048	C	A	NBN	c.73G>T	NM_002485.5	NP_002476.2:p.(Val25Phe)	NC_000008.10:g.90995048C>A	VUS	1 lab	c3dc7c2f95
18:10722463 PIEZO2 C>T	18	10722463	10722463	C	T	PIEZO2	c.5030-4206G>A	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10722463C>T	(Likely) benign	1 lab	c3dc8b2d9f
17:1634474 WDR81 C>T	17	1634474	1634474	C	T	WDR81	c.4079C>T	NM_001163809.2	NP_001157281.1:p.(Thr1360Ile)	NC_000017.10:g.1634474C>T	VUS	1 lab	c3dd44617f
11:71164364 NADSYN1 G>A	11	71164364	71164364	G	A	NADSYN1	c.22G>A	NM_018161.5	NP_060631.2:p.(Ala8Thr)	NC_000011.9:g.71164364G>A	VUS	1 lab	c3dd79279d
2:26424123 HADHA C>G	2	26424123	26424123	C	G	HADHA	c.1287G>C	NM_000182.5	NP_000173.2:p.(Leu429Phe)	NC_000002.11:g.26424123C>G	VUS	1 lab	c3dd7e7b42
14:20864875 TEP1 G>A	14	20864875	20864875	G	A	TEP1	c.1564C>T	NM_007110.5	NP_009041.2:p.(Pro522Ser)	NC_000014.8:g.20864875G>A	VUS	1 lab	c3ddda7d5c
8:106814222 ZFPM2 A>G	8	106814222	106814222	A	G	ZFPM2	c.1912A>G	NM_012082.4	NP_036214.2:p.(Asn638Asp)	NC_000008.10:g.106814222A>G	(Likely) benign	1 lab	c3e1c1e707
7:100853955 PLOD3 C>A	7	100853955	100853955	C	A	PLOD3	c.1359-1G>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853955C>A	(Likely) pathogenic	1 lab	c3e2529258
4:1807505 FGFR3 G>A	4	1807505	1807505	G	A	FGFR3	c.1674G>A	NM_000142.5	NP_000133.1:p.(Ala558=)	NC_000004.11:g.1807505G>A	(Likely) benign	1 lab	c3e2d53659
19:15296225 NOTCH3 A>C	19	15296225	15296225	A	C	NOTCH3	c.2145-6T>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15296225A>C	VUS	1 lab	c4ee0fbd8a
14:45645977 FANCM ACT>A	14	45645977	45645983	ACT	A	FANCM	c.4025_4026del	NM_020937.4	NP_065988.1:p.(Ser1342Ter)	NC_000014.8:g.45645982_45645983del	VUS	1 lab	c3e41f8120
5:140627184 PCDHB15 C>G	5	140627184	140627184	C	G	PCDHB15	c.2038C>G	NM_018935.4	NP_061758.1:p.(Gln680Glu)	NC_000005.9:g.140627184C>G	(Likely) benign	1 lab	c3e55f8588
19:21117761 ZNF85 C>T	19	21117761	21117761	C	T	ZNF85	c.137C>T	NM_003429.5	NP_003420.2:p.(Thr46Ile)	NC_000019.9:g.21117761C>T	VUS	1 lab	c3e60788fb
15:63961855 HERC1 T>C	15	63961855	63961855	T	C	HERC1	c.8088A>G	NM_003922.4	NP_003913.3:p.(Thr2696=)	NC_000015.9:g.63961855T>C	(Likely) benign	1 lab	c3e6155e92
5:13859724 DNAH5 G>A	5	13859724	13859724	G	A	DNAH5	c.4797-10C>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13859724G>A	(Likely) benign	1 lab	c3e7a916f9
5:156817596 CYFIP2 C>T	5	156817596	156817596	C	T	CYFIP2	c.3514C>T	NM_001037333.3	NP_001032410.1:p.(Arg1172Cys)	NC_000005.9:g.156817596C>T	VUS	1 lab	2a789205ae
11:67812548 TCIRG1 C>T	11	67812548	67812548	C	T	TCIRG1	c.1144C>T	NM_006019.4	NP_006010.2:p.(Arg382Cys)	NC_000011.9:g.67812548C>T	VUS	1 lab	c3e82073eb
1:16893853 NBPF1 C>A	1	16893853	16893853	C	A	NBPF1	c.2667-7G>T	NM_001405666.3	NP_001392595.1:p.?	NC_000001.10:g.16893853C>A	(Likely) benign	1 lab	c3e993bdfd
17:27254050 PHF12 G>A	17	27254050	27254050	G	A	PHF12	c.280C>T	NM_001033561.2	NP_001028733.1:p.(Pro94Ser)	NC_000017.10:g.27254050G>A	(Likely) benign	1 lab	c3ec5d280e
3:160073895 IFT80 T>C	3	160073895	160073895	T	C	IFT80	c.683A>G	NM_020800.3	NP_065851.1:p.(His228Arg)	NC_000003.11:g.160073895T>C	VUS	1 lab	c3ed432552
18:44560520 KATNAL2 C>A	18	44560520	44560520	C	A	KATNAL2	c.52-12308C>A	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44560520C>A	(Likely) benign	1 lab	c3ee09eff3
12:53494620 IGFBP6 G>A	12	53494620	53494620	G	A	IGFBP6	c.459G>A	NM_002178.3	NP_002169.1:p.(Ala153=)	NC_000012.11:g.53494620G>A	(Likely) benign	1 lab	c3ee17509b
7:6623017 ZDHHC4 T>C	7	6623017	6623017	T	C	ZDHHC4	c.451T>C	NM_001134389.2	NP_001127861.1:p.(Cys151Arg)	NC_000007.13:g.6623017T>C	(Likely) benign	1 lab	c3ef3938ed
7:70218928 AUTS2 G>A	7	70218928	70218928	G	A	AUTS2	c.743-8928G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70218928G>A	(Likely) benign	1 lab	c3f0e3f185
9:139912047 ABCA2 G>A	9	139912047	139912047	G	A	ABCA2	c.2309C>T	NM_001606.5	NP_001597.2:p.(Ala770Val)	NC_000009.11:g.139912047G>A	VUS	1 lab	c3f1644295
19:11352716 DOCK6 C>T	19	11352716	11352716	C	T	DOCK6	c.1643+5G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11352716C>T	(Likely) benign	1 lab	c3f3223ee5
2:152495776 NEB CAA>C	2	152495776	152495779	CAA	C	NEB	c.8994+16_8994+17del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152495778_152495779del	(Likely) benign	1 lab	c3f460f1d6
2:179477175 TTN C>T	2	179477175	179477175	C	T	TTN	c.50077G>A	NM_001267550.2	NP_001254479.2:p.(Val16693Ile)	NC_000002.11:g.179477175C>T	VUS	1 lab	c3f4e3fafe
19:1456380 APC2 A>AC	19	1456380	1456384	A	AC	APC2	c.797dup	NM_005883.3	NP_005874.1:p.(Gln267SerfsTer158)	NC_000019.9:g.1456384dup	VUS	1 lab	c3f523e23d
17:10555381 MYH3 C>T	17	10555381	10555381	C	T	MYH3	c.348+356G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10555381C>T	(Likely) benign	1 lab	c3f6511c79
3:9934901 JAGN1 G>A	3	9934901	9934901	G	A	JAGN1	c.392G>A	NM_032492.4	NP_115881.3:p.(Arg131His)	NC_000003.11:g.9934901G>A	VUS	1 lab	c3f6a5f6d7
11:66458981 SPTBN2 T>C	11	66458981	66458981	T	C	SPTBN2	c.5339A>G	NM_006946.4	NP_008877.2:p.(Asn1780Ser)	NC_000011.9:g.66458981T>C	VUS	1 lab	c3f6a727c6
2:179584365 TTN C>T	2	179584365	179584365	C	T	TTN	c.23854G>A	NM_001267550.2	NP_001254479.2:p.(Glu7952Lys)	NC_000002.11:g.179584365C>T	(Likely) benign	1 lab	c3f72dd5c2
5:37164386 CPLANE1 T>C	5	37164386	37164386	T	C	CPLANE1	c.7577A>G	NM_001384732.1	NP_001371661.1:p.(Asp2526Gly)	NC_000005.9:g.37164386T>C	(Likely) benign	1 lab	c3f76d3b5a
4:8621059 CPZ C>G	4	8621059	8621059	C	G	CPZ	c.1674C>G	NM_001014447.3	NP_001014447.2:p.(Tyr558Ter)	NC_000004.11:g.8621059C>G	VUS	1 lab	c3f7b1257c
12:115109773 TBX3 C>T	12	115109773	115109773	C	T	TBX3	c.2045G>A	NM_005996.4	NP_005987.3:p.(Ser682Asn)	NC_000012.11:g.115109773C>T	(Likely) benign	1 lab	c3f9429c87
17:40384047 STAT5B A>G	17	40384047	40384047	A	G	STAT5B	c.99T>C	NM_012448.4	NP_036580.2:p.(Tyr33=)	NC_000017.10:g.40384047A>G	(Likely) benign	1 lab	c3fa592e91
19:13201126 NFIX A>C	19	13201126	13201126	A	C	NFIX	c.1416A>C	NM_001365902.3	NP_001352831.1:p.(Thr472=)	NC_000019.9:g.13201126A>C	VUS	1 lab	c3fa5b075e
17:29283488 ADAP2 GT>G	17	29283488	29283489	GT	G	ADAP2	c.1111+2del	NM_018404.3	NP_060874.1:p.?	NC_000017.10:g.29283489del	VUS	1 lab	c3fab0c6df
6:43006309 CUL7 G>C	6	43006309	43006309	G	C	CUL7	c.4562C>G	NM_014780.5	NP_055595.2:p.(Pro1521Arg)	NC_000006.11:g.43006309G>C	VUS	1 lab	c3fb51fc02
14:79269965 NRXN3 G>A	14	79269965	79269965	G	A	NRXN3	c.2047G>A	NM_001330195.2	NP_001317124.1:p.(Ala683Thr)	NC_000014.8:g.79269965G>A	VUS	1 lab	c3fc706b67
12:49422736 KMT2D G>A	12	49422736	49422736	G	A	KMT2D	c.14257C>T	NM_003482.4	NP_003473.3:p.(Pro4753Ser)	NC_000012.11:g.49422736G>A	VUS	1 lab	c3fdb481e0
11:17408737 KCNJ11 C>G	11	17408737	17408737	C	G	KCNJ11	c.902G>C	NM_000525.4	NP_000516.3:p.(Arg301Pro)	NC_000011.9:g.17408737C>G	(Likely) pathogenic	1 lab	c3fdba937c
16:22159637 VWA3A G>A	16	22159637	22159637	G	A	VWA3A	c.2984+10G>A	NM_173615.5	NP_775886.3:p.?	NC_000016.9:g.22159637G>A	(Likely) benign	1 lab	c3fe04dad4
11:118949572 VPS11 C>T	11	118949572	118949572	C	T	VPS11	c.2131C>T	NM_021729.6	NP_068375.3:p.(Arg711Cys)	NC_000011.9:g.118949572C>T	VUS	1 lab	c3fe094246
22:42609192 TCF20 T>C	22	42609192	42609192	T	C	TCF20	c.2120A>G	NM_001378418.1	NP_001365347.1:p.(Tyr707Cys)	NC_000022.10:g.42609192T>C	(Likely) benign	1 lab	c3ff5e1b76
2:192160921 MYO1B A>G	2	192160921	192160921	A	G	MYO1B	c.220A>G	NM_001130158.3	NP_001123630.1:p.(Asn74Asp)	NC_000002.11:g.192160921A>G	VUS	1 lab	c3ff7ea502
6:43276118 CRIP3 A>C	6	43276118	43276118	A	C	CRIP3	c.73T>G	NM_206922.3	NP_996805.2:p.(Trp25Gly)	NC_000006.11:g.43276118A>C	VUS	1 lab	c3ff86c8ab
14:103406666 CDC42BPB C>T	14	103406666	103406666	C	T	CDC42BPB	c.4409-5G>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103406666C>T	(Likely) benign	1 lab	2a7b1bfd22
1:162740230 DDR2 C>T	1	162740230	162740230	C	T	DDR2	c.1432C>T	NM_006182.4	NP_006173.2:p.(Arg478Cys)	NC_000001.10:g.162740230C>T	(Likely) benign	1 lab	c40075a633
3:87322616 POU1F1 G>A	3	87322616	87322616	G	A	POU1F1	c.143-48C>T	NM_000306.4	NP_000297.1:p.?	NC_000003.11:g.87322616G>A	(Likely) benign	1 lab	c400c62689
9:139232028 GPSM1 C>T	9	139232028	139232028	C	T	GPSM1	c.702+7C>T	NM_001145638.3	NP_001139110.2:p.?	NC_000009.11:g.139232028C>T	(Likely) benign	1 lab	c40195ec05
5:60790091 ZSWIM6 G>A	5	60790091	60790091	G	A	ZSWIM6	c.1187G>A	NM_020928.2	NP_065979.1:p.(Arg396Gln)	NC_000005.9:g.60790091G>A	VUS	1 lab	c401ffaf2e
19:18898371 COMP T>C	19	18898371	18898371	T	C	COMP	c.1064A>G	NM_000095.3	NP_000086.2:p.(Lys355Arg)	NC_000019.9:g.18898371T>C	VUS	1 lab	c40245a07f
6:117232121 RFX6 G>A	6	117232121	117232121	G	A	RFX6	c.696G>A	NM_173560.4	NP_775831.2:p.(Ser232=)	NC_000006.11:g.117232121G>A	(Likely) benign	1 lab	c403ce06b5
5:176636808 NSD1 C>G	5	176636808	176636808	C	G	NSD1	c.1408C>G	NM_022455.5	NP_071900.2:p.(Leu470Val)	NC_000005.9:g.176636808C>G	(Likely) benign	1 lab	c40445589e
21:33043712 SCAF4 C>CT	21	33043712	33043713	C	CT	SCAF4	c.3443dup	NM_020706.2	NP_065757.1:p.(Ter1148=)	NC_000021.8:g.33043713dup	VUS	1 lab	2a7b6289f3
X:63409994 AMER1 G>A	X	63409994	63409994	G	A	AMER1	c.3173C>T	NM_152424.4	NP_689637.3:p.(Pro1058Leu)	NC_000023.10:g.63409994G>A	VUS	1 lab	c405d1af88
3:119211282 POGLUT1 A>G	3	119211282	119211282	A	G	POGLUT1	c.1176A>G	NM_152305.3	NP_689518.1:p.(Leu392=)	NC_000003.11:g.119211282A>G	(Likely) benign	1 lab	2c7b0dbe2d
14:97312513 VRK1 A>G	14	97312513	97312513	A	G	VRK1	c.286+12A>G	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97312513A>G	(Likely) benign	1 lab	2c7cdb163d
8:125562065 NDUFB9 C>G	8	125562065	125562065	C	G	NDUFB9	c.472C>G	NM_005005.3	NP_004996.1:p.(Arg158Gly)	NC_000008.10:g.125562065C>G	VUS	1 lab	c408868339
19:900061 R3HDM4 C>T	19	900061	900061	C	T	R3HDM4	c.561G>A	NM_138774.4	NP_620129.2:p.(Met187Ile)	NC_000019.9:g.900061C>T	(Likely) benign	1 lab	c409448466
1:22167631 HSPG2 C>T	1	22167631	22167631	C	T	HSPG2	c.9476G>A	NM_005529.7	NP_005520.4:p.(Arg3159Gln)	NC_000001.10:g.22167631C>T	(Likely) benign	1 lab	c409623abd
9:94519637 ROR2 G>A	9	94519637	94519637	G	A	ROR2	c.380C>T	NM_004560.4	NP_004551.2:p.(Thr127Met)	NC_000009.11:g.94519637G>A	(Likely) benign	1 lab	c40a2e94c8
19:11285218 KANK2 C>T	19	11285218	11285218	C	T	KANK2	c.1999G>A	NM_001136191.3	NP_001129663.1:p.(Gly667Ser)	NC_000019.9:g.11285218C>T	VUS	1 lab	c40b7713b2
7:40027707 CDK13 A>G	7	40027707	40027707	A	G	CDK13	c.1721A>G	NM_003718.5	NP_003709.3:p.(Lys574Arg)	NC_000007.13:g.40027707A>G	VUS	1 lab	c40de315ac
X:153582563 FLNA C>T	X	153582563	153582563	C	T	FLNA	c.5513G>A	NM_001110556.2	NP_001104026.1:p.(Gly1838Asp)	NC_000023.10:g.153582563C>T	VUS	1 lab	c41092b19d
19:13563673 CACNA1A T>C	19	13563673	13563673	T	C	CACNA1A	c.539+17A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13563673T>C	(Likely) benign	1 lab	2c7f35a239
13:25457376 CPAP C>G	13	25457376	25457376	C	G	CPAP	c.3956G>C	NM_018451.5	NP_060921.3:p.(Arg1319Thr)	NC_000013.10:g.25457376C>G	(Likely) benign	1 lab	c414114dae
17:1631342 WDR81 AG>A	17	1631342	1631344	AG	A	WDR81	c.3091del	NM_001163809.2	NP_001157281.1:p.(Glu1031ArgfsTer61)	NC_000017.10:g.1631344del	VUS	1 lab	c4142f4fbf
17:41256248 BRCA1 T>G	17	41256248	41256248	T	G	BRCA1	c.332A>C	NM_007294.4	NP_009225.1:p.(Glu111Ala)	NC_000017.10:g.41256248T>G	VUS	1 lab	c417799099
22:21989092 CCDC116 G>T	22	21989092	21989092	G	T	CCDC116	c.740G>T	NM_152612.3	NP_689825.2:p.(Gly247Val)	NC_000022.10:g.21989092G>T	(Likely) benign	1 lab	c4184a748f
3:47890678 DHX30 C>T	3	47890678	47890678	C	T	DHX30	c.2930-4C>T	NM_138615.3	NP_619520.1:p.?	NC_000003.11:g.47890678C>T	(Likely) benign	1 lab	c41865e14f
8:41795056 KAT6A G>A	8	41795056	41795056	G	A	KAT6A	c.3070C>T	NM_006766.5	NP_006757.2:p.(Arg1024Ter)	NC_000008.10:g.41795056G>A	(Likely) pathogenic	1 lab	c419ec7848
5:52396331 MOCS2 A>C	5	52396331	52396331	A	C	MOCS2	c.411T>G	NM_004531.5	NP_004522.1:p.(Ile137Met)	NC_000005.9:g.52396331A>C	VUS	1 lab	c41a090c7a
11:7531229 OLFML1 G>A	11	7531229	7531229	G	A	OLFML1	c.1019G>A	NM_198474.4	NP_940876.2:p.(Arg340His)	NC_000011.9:g.7531229G>A	(Likely) benign	1 lab	c41a719940
22:41513412 EP300 A>G	22	41513412	41513412	A	G	EP300	c.316A>G	NM_001429.4	NP_001420.2:p.(Ser106Gly)	NC_000022.10:g.41513412A>G	(Likely) benign	1 lab	c41b8ecf4d
2:33172886 LTBP1 G>A	2	33172886	33172886	G	A	LTBP1	c.494+1G>A	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33172886G>A	(Likely) pathogenic	1 lab	c41bc4df21
9:126135519 CRB2 C>T	9	126135519	126135519	C	T	CRB2	c.2709C>T	NM_173689.7	NP_775960.4:p.(Arg903=)	NC_000009.11:g.126135519C>T	(Likely) benign	1 lab	2c7f3d0a79
17:74133736 FOXJ1 C>T	17	74133736	74133736	C	T	FOXJ1	c.964G>A	NM_001454.4	NP_001445.2:p.(Gly322Arg)	NC_000017.10:g.74133736C>T	(Likely) benign	1 lab	c41e00f379
17:65952124 BPTF T>C	17	65952124	65952124	T	C	BPTF	c.7927-3533T>C	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65952124T>C	(Likely) benign	1 lab	c41e8c2c9f
17:40379710 STAT5B G>GA	17	40379710	40379717	G	GA	STAT5B	c.129-8dup	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40379717dup	(Likely) benign	1 lab	c41eefc97d
7:75689784 MDH2 G>A	7	75689784	75689784	G	A	MDH2	c.523G>A	NM_005918.4	NP_005909.2:p.(Val175Ile)	NC_000007.13:g.75689784G>A	VUS	1 lab	c4243b1d49
14:99976596 CCNK C>T	14	99976596	99976596	C	T	CCNK	c.1220C>T	NM_001099402.2	NP_001092872.1:p.(Pro407Leu)	NC_000014.8:g.99976596C>T	(Likely) benign	1 lab	c4246affa2
7:42012040 GLI3 G>C	7	42012040	42012040	G	C	GLI3	c.1999C>G	NM_000168.6	NP_000159.3:p.(Arg667Gly)	NC_000007.13:g.42012040G>C	VUS	1 lab	c424ac0393
1:151402092 POGZ A>C	1	151402092	151402092	A	C	POGZ	c.555T>G	NM_015100.4	NP_055915.2:p.(Ile185Met)	NC_000001.10:g.151402092A>C	VUS	1 lab	c425813627
X:103080240 RAB9B T>C	X	103080240	103080240	T	C	RAB9B	c.475A>G	NM_016370.4	NP_057454.1:p.(Thr159Ala)	NC_000023.10:g.103080240T>C	VUS	1 lab	c427278faa
5:13770982 DNAH5 C>A	5	13770982	13770982	C	A	DNAH5	c.9481G>T	NM_001369.3	NP_001360.1:p.(Val3161Phe)	NC_000005.9:g.13770982C>A	VUS	1 lab	c427adb53c
6:43483337 YIPF3 T>C	6	43483337	43483337	T	C	YIPF3	c.391A>G	NM_015388.4	NP_056203.2:p.(Ser131Gly)	NC_000006.11:g.43483337T>C	VUS	1 lab	c428d5a9a9
4:1807218 FGFR3 G>T	4	1807218	1807218	G	T	FGFR3	c.1534+15G>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807218G>T	(Likely) benign	1 lab	c42920b1ca
22:18656552 USP18 G>C	22	18656552	18656552	G	C	USP18	c.1024-8G>C	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18656552G>C	(Likely) benign	1 lab	c429d406d3
19:40363239 FCGBP C>T	19	40363239	40363239	C	T	FCGBP	c.14831G>A	NM_003890.3	NP_003881.2:p.(Arg4944Gln)	NC_000019.9:g.40363239C>T	VUS	1 lab	c42a14fece
2:61431424 USP34 C>T	2	61431424	61431424	C	T	USP34	c.9351G>A	NM_014709.4	NP_055524.3:p.(Met3117Ile)	NC_000002.11:g.61431424C>T	(Likely) benign	1 lab	c42a9ee401
2:95540642 TEKT4 G>A	2	95540642	95540642	G	A	TEKT4	c.835G>A	NM_144705.4	NP_653306.1:p.(Glu279Lys)	NC_000002.11:g.95540642G>A	(Likely) benign	1 lab	c42b69b43d
1:247053348 AHCTF1 C>T	1	247053348	247053348	C	T	AHCTF1	c.2064G>A	NM_001323342.2	NP_001310271.1:p.(Gln688=)	NC_000001.10:g.247053348C>T	(Likely) benign	1 lab	c42bef46c1
8:144996066 PLEC C>A	8	144996066	144996066	C	A	PLEC	c.7923G>T	NM_201384.3	NP_958786.1:p.(Glu2641Asp)	NC_000008.10:g.144996066C>A	(Likely) benign	1 lab	c42e53b5a6
17:61562301 ACE C>T	17	61562301	61562301	C	T	ACE	c.1922-296C>T	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61562301C>T	VUS	1 lab	c42e9e5e1a
3:48627958 COL7A1 C>A	3	48627958	48627958	C	A	COL7A1	c.1840G>T	NM_000094.4	NP_000085.1:p.(Val614Leu)	NC_000003.11:g.48627958C>A	(Likely) benign	1 lab	c43093e8ad
20:25198216 ENTPD6 A>G	20	25198216	25198216	A	G	ENTPD6	c.877A>G	NM_001247.5	NP_001238.3:p.(Ser293Gly)	NC_000020.10:g.25198216A>G	VUS	1 lab	c430ac1b43
4:88537231 DSPP CAACAGCAGT>C	4	88537231	88537240	CAACAGCAGT	C	DSPP	c.3418_3426del	NM_014208.3	NP_055023.2:p.(Asn1140_Ser1142del)	NC_000004.11:g.88537232_88537240del	VUS	1 lab	c43139ec18
2:60688549 BCL11A C>T	2	60688549	60688549	C	T	BCL11A	c.1498G>A	NM_022893.4	NP_075044.2:p.(Glu500Lys)	NC_000002.11:g.60688549C>T	(Likely) benign	1 lab	c4315c2531
9:35792612 NPR2 C>T	9	35792612	35792612	C	T	NPR2	c.207C>T	NM_003995.4	NP_003986.2:p.(Ser69=)	NC_000009.11:g.35792612C>T	(Likely) benign	1 lab	c4333badf5
5:32712119 NPR3 T>C	5	32712119	32712119	T	C	NPR3	c.237T>C	NM_001204375.2	NP_001191304.1:p.(Ala79=)	NC_000005.9:g.32712119T>C	(Likely) benign	1 lab	c43642b082
1:1333979 CCNL2 C>G	1	1333979	1333979	C	G	CCNL2	c.361G>C	NM_030937.6	NP_112199.2:p.(Glu121Gln)	NC_000001.10:g.1333979C>G	(Likely) benign	1 lab	c4367e622a
12:49319204 FKBP11 AGGGTCATGACTGGGCGCG>A	12	49319204	49319225	AGGGTCATGACTGGGCGCG	A	FKBP11	c.-11_7del	NM_016594.3	NP_057678.1:p.?	NC_000012.11:g.49319208_49319225del	VUS	1 lab	c4377edaaa
7:42187957 GLI3 T>A	7	42187957	42187957	T	A	GLI3	c.235A>T	NM_000168.6	NP_000159.3:p.(Ser79Cys)	NC_000007.13:g.42187957T>A	(Likely) benign	1 lab	c437a6e5a9
5:78076372 ARSB T>C	5	78076372	78076372	T	C	ARSB	c.1450A>G	NM_000046.5	NP_000037.2:p.(Arg484Gly)	NC_000005.9:g.78076372T>C	VUS	1 lab	c49133cf50
9:136199456 SURF6 C>G	9	136199456	136199456	C	G	SURF6	c.534G>C	NM_006753.6	NP_006744.2:p.(Gln178His)	NC_000009.11:g.136199456C>G	(Likely) benign	1 lab	c43caa732d
12:106820982 POLR3B C>T	12	106820982	106820982	C	T	POLR3B	c.1109C>T	NM_018082.6	NP_060552.4:p.(Ser370Phe)	NC_000012.11:g.106820982C>T	(Likely) benign	1 lab	c43d96ab8d
5:137665336 CDC25C T>G	5	137665336	137665336	T	G	CDC25C	c.195A>C	NM_001790.5	NP_001781.2:p.(Gly65=)	NC_000005.9:g.137665336T>G	(Likely) benign	1 lab	c43ef8a370
11:103019336 DYNC2H1 G>A	11	103019336	103019336	G	A	DYNC2H1	c.2936G>A	NM_001377.3	NP_001368.2:p.(Arg979Gln)	NC_000011.9:g.103019336G>A	(Likely) benign	1 lab	c43f17959c
19:15366893 BRD4 C>T	19	15366893	15366893	C	T	BRD4	c.1733G>A	NM_001379291.1	NP_001366220.1:p.(Ser578Asn)	NC_000019.9:g.15366893C>T	(Likely) benign	1 lab	c441643835
19:41925041 BCKDHA T>G	19	41925041	41925041	T	G	BCKDHA	c.486T>G	NM_000709.4	NP_000700.1:p.(Gly162=)	NC_000019.9:g.41925041T>G	(Likely) benign	1 lab	c443216c98
11:124746348 ROBO3 A>G	11	124746348	124746348	A	G	ROBO3	c.2771A>G	NM_022370.4	NP_071765.2:p.(His924Arg)	NC_000011.9:g.124746348A>G	VUS	1 lab	c443661203
13:103525656 ERCC5 C>T	13	103525656	103525656	C	T	ERCC5	c.2927C>T	NM_000123.4	NP_000114.3:p.(Ser976Phe)	NC_000013.10:g.103525656C>T	VUS	1 lab	c4436a5f36
1:116947036 ATP1A1 A>C	1	116947036	116947036	A	C	ATP1A1	c.3044-2A>C	NM_000701.8	NP_000692.2:p.?	NC_000001.10:g.116947036A>C	VUS	1 lab	c53782c114
7:70255288 AUTS2 C>T	7	70255288	70255288	C	T	AUTS2	c.3086C>T	NM_015570.4	NP_056385.1:p.(Thr1029Met)	NC_000007.13:g.70255288C>T	VUS	1 lab	c446cdfd03
5:149357870 SLC26A2 A>G	5	149357870	149357870	A	G	SLC26A2	c.655A>G	NM_000112.4	NP_000103.2:p.(Ile219Val)	NC_000005.9:g.149357870A>G	(Likely) benign	1 lab	c446df8802
7:31011625 GHRHR C>G	7	31011625	31011625	C	G	GHRHR	c.512C>G	NM_000823.4	NP_000814.2:p.(Thr171Ser)	NC_000007.13:g.31011625C>G	(Likely) benign	1 lab	c4486a8ac6
1:144922523 PDE4DIP C>T	1	144922523	144922523	C	T	PDE4DIP	c.1082G>A	NM_001395426.1	NP_001382355.1:p.(Arg361His)	NC_000001.10:g.144922523C>T	(Likely) benign	1 lab	c449e771c0
6:117246841 RFX6 C>T	6	117246841	117246841	C	T	RFX6	c.1885+19C>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117246841C>T	(Likely) benign	1 lab	c44a0ca7a2
11:66009047 PACS1 G>A	11	66009047	66009047	G	A	PACS1	c.2579G>A	NM_018026.4	NP_060496.2:p.(Arg860His)	NC_000011.9:g.66009047G>A	VUS	1 lab	c44b3e1940
1:20641002 VWA5B1 G>T	1	20641002	20641002	G	T	VWA5B1	c.480G>T	NM_001039500.3	NP_001034589.2:p.(Arg160Ser)	NC_000001.10:g.20641002G>T	VUS	1 lab	c44c83069d
11:119146718 CBL G>A	11	119146718	119146718	G	A	CBL	c.881G>A	NM_005188.4	NP_005179.2:p.(Arg294Gln)	NC_000011.9:g.119146718G>A	VUS	1 lab	c44e73be62
18:24128309 KCTD1 G>C	18	24128309	24128309	G	C	KCTD1	c.192C>G	NM_001142730.3	NP_001136202.1:p.(Asp64Glu)	NC_000018.9:g.24128309G>C	VUS	1 lab	c4503eb2d4
16:2161507 PKD1 G>A	16	2161507	2161507	G	A	PKD1	c.3661C>T	NM_001009944.3	NP_001009944.3:p.(Leu1221=)	NC_000016.9:g.2161507G>A	(Likely) benign	1 lab	c450c71780
11:112097244 PTS G>T	11	112097244	112097244	G	T	PTS	c.78G>T	NM_000317.3	NP_000308.1:p.(Leu26Phe)	NC_000011.9:g.112097244G>T	(Likely) pathogenic	1 lab	c450f11423
6:44272908 AARS2 G>C	6	44272908	44272908	G	C	AARS2	c.1462C>G	NM_020745.4	NP_065796.2:p.(Gln488Glu)	NC_000006.11:g.44272908G>C	(Likely) benign	1 lab	c4511f4ee0
14:99641009 BCL11B T>C	14	99641009	99641009	T	C	BCL11B	c.2164A>G	NM_138576.4	NP_612808.1:p.(Met722Val)	NC_000014.8:g.99641009T>C	VUS	1 lab	2a827cd343
20:18535804 SEC23B A>G	20	18535804	18535804	A	G	SEC23B	c.2201A>G	NM_006363.6	NP_006354.2:p.(Tyr734Cys)	NC_000020.10:g.18535804A>G	VUS	1 lab	c4516e1198
21:47531489 COL6A2 AAAC>A	21	47531489	47531498	AAAC	A	COL6A2	c.106_108del	NM_001849.4	NP_001840.3:p.(Asn36del)	NC_000021.8:g.47531496_47531498del	VUS	1 lab	c4522f56a4
1:225454401 DNAH14 C>T	1	225454401	225454401	C	T	DNAH14	c.7469C>T	NM_001367479.1	NP_001354408.1:p.(Pro2490Leu)	NC_000001.10:g.225454401C>T	VUS	1 lab	c467932f33
11:118307413 KMT2A C>CGCGGCG	11	118307413	118307429	C	CGCGGCG	KMT2A	c.197_202dup	NM_001197104.2	NP_001184033.1:p.(Ala66_Ala67dup)	NC_000011.9:g.118307424_118307429dup	VUS	1 lab	c453d0215a
3:172165849 GHSR A>G	3	172165849	172165849	A	G	GHSR	c.355T>C	NM_198407.2	NP_940799.1:p.(Phe119Leu)	NC_000003.11:g.172165849A>G	(Likely) benign	1 lab	c45589c380
19:13419313 CACNA1A G>A	19	13419313	13419313	G	A	CACNA1A	c.1698C>T	NM_001127222.2	NP_001120694.1:p.(Ile566=)	NC_000019.9:g.13419313G>A	(Likely) benign	1 lab	c456f918d0
1:152284604 FLG C>A	1	152284604	152284604	C	A	FLG	c.2758G>T	NM_002016.2	NP_002007.1:p.(Ala920Ser)	NC_000001.10:g.152284604C>A	VUS	1 lab	c458b68b4c
22:19375337 HIRA G>A	22	19375337	19375337	G	A	HIRA	c.1010C>T	NM_003325.4	NP_003316.3:p.(Thr337Ile)	NC_000022.10:g.19375337G>A	VUS	1 lab	c45a264142
4:5617276 EVC2 A>G	4	5617276	5617276	A	G	EVC2	c.2707-5T>C	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5617276A>G	(Likely) benign	1 lab	c45a51cea0
5:843758 ZDHHC11 G>T	5	843758	843758	G	T	ZDHHC11	c.585C>A	NM_024786.3	NP_079062.1:p.(Tyr195Ter)	NC_000005.9:g.843758G>T	VUS	1 lab	c45b18ea2f
2:179407279 TTN G>T	2	179407279	179407279	G	T	TTN	c.97204C>A	NM_001267550.2	NP_001254479.2:p.(Pro32402Thr)	NC_000002.11:g.179407279G>T	VUS	1 lab	c45c2417a6
4:126372190 FAT4 A>G	4	126372190	126372190	A	G	FAT4	c.10025A>G	NM_001291303.3	NP_001278232.1:p.(Asn3342Ser)	NC_000004.11:g.126372190A>G	VUS	1 lab	c45c2f3f85
20:31022691 ASXL1 AAGG>A	20	31022691	31022698	AAGG	A	ASXL1	c.2181_2183del	NM_015338.6	NP_056153.2:p.(Glu728del)	NC_000020.10:g.31022696_31022698del	VUS	1 lab	c45c7e7f31
10:49392639 FRMPD2 TGTC>T	10	49392639	49392642	TGTC	T	FRMPD2	c.2551_2553del	NM_001018071.4	NP_001018081.4:p.(Asp851del)	NC_000010.10:g.49392640_49392642del	VUS	1 lab	c45cbbb81f
12:25378647 KRAS T>A	12	25378647	25378647	T	A	KRAS	c.351A>T	NM_004985.5	NP_004976.2:p.(Lys117Asn)	NC_000012.11:g.25378647T>A	VUS	1 lab	2a8361b730
4:8221255 SH3TC1 C>T	4	8221255	8221255	C	T	SH3TC1	c.1110C>T	NM_018986.5	NP_061859.4:p.(Ser370=)	NC_000004.11:g.8221255C>T	(Likely) benign	1 lab	c461a90a10
11:6655503 DCHS1 C>T	11	6655503	6655503	C	T	DCHS1	c.1832G>A	NM_003737.4	NP_003728.1:p.(Gly611Asp)	NC_000011.9:g.6655503C>T	VUS	1 lab	c4636663b0
17:30293164 SUZ12 A>T	17	30293164	30293164	A	T	SUZ12	c.456-2A>T	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30293164A>T	(Likely) benign	1 lab	c464755976
20:62871697 MYT1 G>A	20	62871697	62871697	G	A	MYT1	c.3262G>A	NM_004535.3	NP_004526.1:p.(Asp1088Asn)	NC_000020.10:g.62871697G>A	VUS	1 lab	c4650d75d6
11:18740269 IGSF22 G>A	11	18740269	18740269	G	A	IGSF22	c.703C>T	NM_173588.4	NP_775859.4:p.(Arg235Trp)	NC_000011.9:g.18740269G>A	(Likely) benign	1 lab	c467fc7cc8
19:7267818 INSR A>G	19	7267818	7267818	A	G	INSR	c.190T>C	NM_000208.4	NP_000199.2:p.(Leu64=)	NC_000019.9:g.7267818A>G	(Likely) benign	1 lab	c469f98219
2:20153598 WDR35 T>C	2	20153598	20153598	T	C	WDR35	c.1397A>G	NM_020779.4	NP_065830.2:p.(Glu466Gly)	NC_000002.11:g.20153598T>C	VUS	1 lab	c46d46ac8c
6:157222613 ARID1B C>T	6	157222613	157222613	C	T	ARID1B	c.2090C>T	NM_001374828.1	NP_001361757.1:p.(Ala697Val)	NC_000006.11:g.157222613C>T	(Likely) benign	1 lab	c46d93a290
12:49419951 KMT2D G>A	12	49419951	49419951	G	A	KMT2D	c.15784+14C>T	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49419951G>A	(Likely) benign	1 lab	2c84302b77
20:56098315 CTCFL T>A	20	56098315	56098315	T	A	CTCFL	c.563A>T	NM_001386993.1	NP_001373922.1:p.(Lys188Met)	NC_000020.10:g.56098315T>A	(Likely) benign	1 lab	c46e77f445
9:2192731 SMARCA2 G>C	9	2192731	2192731	G	C	SMARCA2	c.4765G>C	NM_003070.5	NP_003061.3:p.(Asp1589His)	NC_000009.11:g.2192731G>C	VUS	1 lab	c46ec3c146
4:81967429 BMP3 G>A	4	81967429	81967429	G	A	BMP3	c.854G>A	NM_001201.5	NP_001192.4:p.(Arg285Gln)	NC_000004.11:g.81967429G>A	(Likely) benign	1 lab	c46f1149c8
1:43785146 TIE1 G>A	1	43785146	43785146	G	A	TIE1	c.3053G>A	NM_005424.5	NP_005415.1:p.(Arg1018His)	NC_000001.10:g.43785146G>A	VUS	1 lab	c46f77ab30
9:17342376 CNTLN A>T	9	17342376	17342376	A	T	CNTLN	c.1820A>T	NM_017738.4	NP_060208.2:p.(Asp607Val)	NC_000009.11:g.17342376A>T	VUS	1 lab	c46f9b5241
2:219029160 CXCR1 TG>T	2	219029160	219029161	TG	T	CXCR1	c.774del	NM_000634.3	NP_000625.1:p.(Tyr258Ter)	NC_000002.11:g.219029161del	VUS	1 lab	c470765be1
19:17974065 RPL18A T>C	19	17974065	17974065	T	C	RPL18A	c.524T>C	NM_000980.4	NP_000971.1:p.(Phe175Ser)	NC_000019.9:g.17974065T>C	VUS	1 lab	c472164693
2:39222510 SOS1 G>T	2	39222510	39222510	G	T	SOS1	c.3100C>A	NM_005633.4	NP_005624.2:p.(Pro1034Thr)	NC_000002.11:g.39222510G>T	VUS	1 lab	c4729720ec
7:151896420 KMT2C G>A	7	151896420	151896420	G	A	KMT2C	c.4217C>T	NM_170606.3	NP_733751.2:p.(Pro1406Leu)	NC_000007.13:g.151896420G>A	(Likely) benign	1 lab	c475f686a4
4:170634259 CLCN3 G>A	4	170634259	170634259	G	A	CLCN3	c.2179G>A	NM_001829.4	NP_001820.2:p.(Val727Ile)	NC_000004.11:g.170634259G>A	(Likely) benign	1 lab	c477ad7e31
6:39847126 DAAM2 C>T	6	39847126	39847126	C	T	DAAM2	c.1718C>T	NM_001201427.2	NP_001188356.1:p.(Pro573Leu)	NC_000006.11:g.39847126C>T	(Likely) benign	1 lab	33158dfd96
4:39226510 WDR19 G>T	4	39226510	39226510	G	T	WDR19	c.1486G>T	NM_025132.4	NP_079408.3:p.(Val496Phe)	NC_000004.11:g.39226510G>T	VUS	1 lab	c47af7a532
7:47876567 PKD1L1 G>A	7	47876567	47876567	G	A	PKD1L1	c.5895C>T	NM_138295.5	NP_612152.1:p.(Cys1965=)	NC_000007.13:g.47876567G>A	(Likely) benign	1 lab	c47c96fe76
3:119133590 ARHGAP31 G>T	3	119133590	119133590	G	T	ARHGAP31	c.2814G>T	NM_020754.4	NP_065805.2:p.(Gln938His)	NC_000003.11:g.119133590G>T	(Likely) benign	1 lab	c47ca7842e
11:85597246 CCDC83 T>C	11	85597246	85597246	T	C	CCDC83	c.347T>C	NM_001286159.2	NP_001273088.1:p.(Met116Thr)	NC_000011.9:g.85597246T>C	VUS	1 lab	c48069ca69
7:149419574 KRABD3 CAG>C	7	149419574	149419576	CAG	C	KRABD3	c.631_632del	NM_001290187.2	NP_001277116.1:p.(Ser211ProfsTer5)	NC_000007.13:g.149419575_149419576del	(Likely) benign	1 lab	c481ce21e7
19:1467367 APC2 G>T	19	1467367	1467367	G	T	APC2	c.4067G>T	NM_005883.3	NP_005874.1:p.(Arg1356Leu)	NC_000019.9:g.1467367G>T	VUS	1 lab	c4836b89e5
17:10547805 MYH3 C>T	17	10547805	10547805	C	T	MYH3	c.1273G>A	NM_002470.4	NP_002461.2:p.(Val425Met)	NC_000017.10:g.10547805C>T	VUS	1 lab	c484815d3d
17:41246152 BRCA1 G>A	17	41246152	41246152	G	A	BRCA1	c.1396C>T	NM_007294.4	NP_009225.1:p.(Arg466Trp)	NC_000017.10:g.41246152G>A	(Likely) benign	1 lab	c485d41fd0
14:105419313 AHNAK2 C>A	14	105419313	105419313	C	A	AHNAK2	c.2475G>T	NM_138420.4	NP_612429.2:p.(Glu825Asp)	NC_000014.8:g.105419313C>A	(Likely) benign	1 lab	c487061cae
1:185976370 HMCN1 A>G	1	185976370	185976370	A	G	HMCN1	c.4586A>G	NM_031935.3	NP_114141.2:p.(Asn1529Ser)	NC_000001.10:g.185976370A>G	(Likely) benign	1 lab	c48718bd96
19:11532428 ODAD3 C>A	19	11532428	11532428	C	A	ODAD3	c.1507G>T	NM_145045.5	NP_659482.3:p.(Val503Leu)	NC_000019.9:g.11532428C>A	(Likely) benign	1 lab	c4873c3faa
6:129807758 LAMA2 G>A	6	129807758	129807758	G	A	LAMA2	c.7889G>A	NM_000426.4	NP_000417.3:p.(Arg2630Gln)	NC_000006.11:g.129807758G>A	VUS	1 lab	c48796787e
12:121416865 HNF1A C>G	12	121416865	121416865	C	G	HNF1A	c.294C>G	NM_000545.8	NP_000536.6:p.(Ala98=)	NC_000012.11:g.121416865C>G	(Likely) benign	1 lab	c4881a527e
2:48066806 FBXO11 G>A	2	48066806	48066806	G	A	FBXO11	c.335C>T	NM_001190274.2	NP_001177203.1:p.(Ala112Val)	NC_000002.11:g.48066806G>A	VUS	1 lab	2a86dcd2d0
22:51159234 SHANK3 T>C	22	51159234	51159234	T	C	SHANK3	c.3198T>C	NM_001372044.2	NP_001358973.1:p.(Gly1066=)	NC_000022.10:g.51159234T>C	VUS	1 lab	c489726571
6:33756818 LEMD2 T>C	6	33756818	33756818	T	C	LEMD2	c.76A>G	NM_181336.4	NP_851853.1:p.(Thr26Ala)	NC_000006.11:g.33756818T>C	VUS	1 lab	c48aca23e2
1:152277152 FLG T>C	1	152277152	152277152	T	C	FLG	c.10210A>G	NM_002016.2	NP_002007.1:p.(Arg3404Gly)	NC_000001.10:g.152277152T>C	(Likely) benign	1 lab	c48b7e9258
9:139731914 RABL6 C>T	9	139731914	139731914	C	T	RABL6	c.926C>T	NM_024718.5	NP_078994.3:p.(Thr309Met)	NC_000009.11:g.139731914C>T	VUS	1 lab	c48d81a496
2:228228568 TM4SF20 G>A	2	228228568	228228568	G	A	TM4SF20	c.562C>T	NM_024795.4	NP_079071.2:p.(His188Tyr)	NC_000002.11:g.228228568G>A	(Likely) benign	1 lab	c48daf95fd
1:16263693 SPEN T>TCAGCCTGTGCAGTCCACA	1	16263693	16263718	T	TCAGCCTGTGCAGTCCACA	SPEN	c.10070_10087dup	NM_015001.3	NP_055816.2:p.(Val3357_Pro3362dup)	NC_000001.10:g.16263701_16263718dup	(Likely) benign	1 lab	c48ddfc67b
15:78893720 CHRNA3 T>A	15	78893720	78893720	T	A	CHRNA3	c.1264A>T	NM_000743.5	NP_000734.2:p.(Ser422Cys)	NC_000015.9:g.78893720T>A	VUS	1 lab	c48e8b4c6b
7:30665933 GARS1 A>C	7	30665933	30665933	A	C	GARS1	c.1697A>C	NM_002047.4	NP_002038.2:p.(Tyr566Ser)	NC_000007.13:g.30665933A>C	VUS	1 lab	c4909a9b71
3:100039818 TBC1D23 A>G	3	100039818	100039818	A	G	TBC1D23	c.2018+3A>G	NM_001199198.3	NP_001186127.1:p.?	NC_000003.11:g.100039818A>G	(Likely) benign	1 lab	c490f3b66d
6:117252525 RFX6 C>G	6	117252525	117252525	C	G	RFX6	c.2643C>G	NM_173560.4	NP_775831.2:p.(Ser881=)	NC_000006.11:g.117252525C>G	(Likely) benign	1 lab	c4914ed2b0
1:151006406 PRUNE1 C>G	1	151006406	151006406	C	G	PRUNE1	c.1058C>G	NM_021222.3	NP_067045.1:p.(Pro353Arg)	NC_000001.10:g.151006406C>G	(Likely) benign	1 lab	c491a7d0ef
11:134132528 ACAD8 C>T	11	134132528	134132528	C	T	ACAD8	c.1195+12C>T	NM_014384.3	NP_055199.1:p.?	NC_000011.9:g.134132528C>T	(Likely) benign	1 lab	2a89d60c72
1:227149166 COQ8A T>C	1	227149166	227149166	T	C	COQ8A	c.80T>C	NM_020247.5	NP_064632.2:p.(Leu27Pro)	NC_000001.10:g.227149166T>C	VUS	1 lab	c492ee6b26
2:179454504 TTN C>T	2	179454504	179454504	C	T	TTN	c.61948G>A	NM_001267550.2	NP_001254479.2:p.(Val20650Ile)	NC_000002.11:g.179454504C>T	VUS	1 lab	2a8a307b33
1:156105060 LMNA G>A	1	156105060	156105060	G	A	LMNA	c.893G>A	NM_170707.4	NP_733821.1:p.(Arg298His)	NC_000001.10:g.156105060G>A	(Likely) benign	1 lab	c493d56e8c
2:179412719 TTN C>T	2	179412719	179412719	C	T	TTN	c.93634G>A	NM_001267550.1	NP_001254479.1:p.(Glu31212Lys)	NC_000002.11:g.179412719C>T	VUS	1 lab	2c8d5b76e4
4:85699655 WDFY3 C>T	4	85699655	85699655	C	T	WDFY3	c.4518+1G>A	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85699655C>T	(Likely) pathogenic	1 lab	c49470c36b
11:17418476 ABCC8 G>A	11	17418476	17418476	G	A	ABCC8	c.4106C>T	NM_000352.6	NP_000343.2:p.(Ala1369Val)	NC_000011.9:g.17418476G>A	VUS	1 lab	c497b23f8e
4:1803391 FGFR3 C>A	4	1803391	1803391	C	A	FGFR3	c.660C>A	NM_000142.5	NP_000133.1:p.(Pro220=)	NC_000004.11:g.1803391C>A	(Likely) benign	1 lab	c49b4d9885
7:156469173 RNF32 G>A	7	156469173	156469173	G	A	RNF32	c.913G>A	NM_030936.4	NP_112198.1:p.(Gly305Ser)	NC_000007.13:g.156469173G>A	(Likely) benign	1 lab	c49b8c88aa
14:53513659 DDHD1 CC>A	14	53513659	53513660	CC	A	DDHD1	c.2529_2530delinsT	NM_001160148.2	NP_001153620.1:p.(Leu843PhefsTer39)	NC_000014.8:g.53513659_53513660delinsA	VUS	1 lab	c49c6d19c2
9:104499651 GRIN3A C>T	9	104499651	104499651	C	T	GRIN3A	c.611G>A	NM_133445.3	NP_597702.2:p.(Gly204Asp)	NC_000009.11:g.104499651C>T	VUS	1 lab	c49d7f51cf
6:43100256 PTK7 C>G	6	43100256	43100256	C	G	PTK7	c.1059C>G	NM_002821.5	NP_002812.2:p.(Ser353Arg)	NC_000006.11:g.43100256C>G	(Likely) benign	1 lab	c4a099272d
8:145004701 PLEC C>T	8	145004701	145004701	C	T	PLEC	c.2308G>A	NM_201384.3	NP_958786.1:p.(Glu770Lys)	NC_000008.10:g.145004701C>T	VUS	1 lab	c4a1741103
12:46287280 ARID2 T>C	12	46287280	46287280	T	C	ARID2	c.5225T>C	NM_152641.4	NP_689854.2:p.(Met1742Thr)	NC_000012.11:g.46287280T>C	(Likely) benign	1 lab	c4a22195d1
1:43392774 SLC2A1 T>C	1	43392774	43392774	T	C	SLC2A1	c.1417A>G	NM_006516.4	NP_006507.2:p.(Ser473Gly)	NC_000001.10:g.43392774T>C	(Likely) benign	1 lab	c4a478d39e
2:191792071 GLS A>T	2	191792071	191792071	A	T	GLS	c.1288A>T	NM_014905.5	NP_055720.3:p.(Met430Leu)	NC_000002.11:g.191792071A>T	(Likely) benign	1 lab	c4a578dbf8
2:39285923 SOS1 G>C	2	39285923	39285923	G	C	SOS1	c.236C>G	NM_005633.4	NP_005624.2:p.(Pro79Arg)	NC_000002.11:g.39285923G>C	VUS	1 lab	c4a645ae66
1:1390906 ATAD3C C>T	1	1390906	1390906	C	T	ATAD3C	c.438+7C>T	NM_001039211.3	NP_001034300.2:p.?	NC_000001.10:g.1390906C>T	(Likely) benign	1 lab	c4a791dfb0
5:14358384 TRIO A>G	5	14358384	14358384	A	G	TRIO	c.2144A>G	NM_007118.4	NP_009049.2:p.(Gln715Arg)	NC_000005.9:g.14358384A>G	VUS	1 lab	c4a7a80323
2:27434880 SLC5A6 A>C	2	27434880	27434880	A	C	SLC5A6	c.-208+8T>G	NM_021095.4	NP_066918.2:p.?	NC_000002.11:g.27434880A>C	(Likely) benign	1 lab	c4a9ab49a1
10:88820803 GLUD1 C>A	10	88820803	88820803	C	A	GLUD1	c.928G>T	NM_005271.5	NP_005262.1:p.(Gly310Cys)	NC_000010.10:g.88820803C>A	VUS	1 lab	c4aad7886b
X:130420419 IGSF1 G>A	X	130420419	130420419	G	A	IGSF1	c.89C>T	NM_001555.5	NP_001546.2:p.(Thr30Ile)	NC_000023.10:g.130420419G>A	(Likely) benign	1 lab	c4ab09ef10
20:61951636 COL20A1 G>A	20	61951636	61951636	G	A	COL20A1	c.3076-7G>A	NM_020882.4	NP_065933.2:p.?	NC_000020.10:g.61951636G>A	(Likely) benign	1 lab	c4ac99dfe2
X:153490661 OPN1MW2 G>A	X	153490661	153490661	G	A	OPN1MW2	c.397G>A	NM_001048181.3	NP_001041646.1:p.(Val133Ile)	NC_000023.10:g.153490661G>A	VUS	1 lab	c4ae84774c
19:12775781 MAN2B1 T>C	19	12775781	12775781	T	C	MAN2B1	c.455A>G	NM_000528.4	NP_000519.2:p.(Asn152Ser)	NC_000019.9:g.12775781T>C	VUS	1 lab	c4aea89886
X:84525067 ZNF711 A>T	X	84525067	84525067	A	T	ZNF711	c.1161A>T	NM_001330574.2	NP_001317503.1:p.(Gln387His)	NC_000023.10:g.84525067A>T	VUS	1 lab	c4af28af07
7:150746339 ASIC3 G>A	7	150746339	150746339	G	A	ASIC3	c.367G>A	NM_004769.4	NP_004760.1:p.(Ala123Thr)	NC_000007.13:g.150746339G>A	VUS	1 lab	c4b0d649a1
6:28212900 ZKSCAN4 TGAA>T	6	28212900	28212903	TGAA	T	ZKSCAN4	c.1629_1631del	NM_019110.5	NP_061983.2:p.(Ser544del)	NC_000006.11:g.28212901_28212903del	(Likely) benign	1 lab	c4b0f42947
19:50906816 POLD1 G>T	19	50906816	50906816	G	T	POLD1	c.1204G>T	NM_002691.4	NP_002682.2:p.(Asp402Tyr)	NC_000019.9:g.50906816G>T	VUS	1 lab	c4b4d82439
1:8716125 RERE T>C	1	8716125	8716125	T	C	RERE	c.232A>G	NM_001042681.2	NP_001036146.1:p.(Lys78Glu)	NC_000001.10:g.8716125T>C	VUS	1 lab	c4b56eb326
12:115120909 TBX3 C>A	12	115120909	115120909	C	A	TBX3	c.97G>T	NM_005996.4	NP_005987.3:p.(Val33Leu)	NC_000012.11:g.115120909C>A	(Likely) benign	1 lab	c4b723a612
2:141771295 LRP1B T>C	2	141771295	141771295	T	C	LRP1B	c.2210A>G	NM_018557.3	NP_061027.2:p.(Glu737Gly)	NC_000002.11:g.141771295T>C	(Likely) benign	1 lab	c4b94143fe
19:3813906 ZFR2 A>C	19	3813906	3813906	A	C	ZFR2	c.2154T>G	NM_015174.2	NP_055989.1:p.(Ile718Met)	NC_000019.9:g.3813906A>C	(Likely) benign	1 lab	c4b94ce65a
22:40059720 CACNA1I CAGGTT>C	22	40059720	40059725	CAGGTT	C	CACNA1I	c.3474-2_3476del	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40059721_40059725del	(Likely) benign	1 lab	c4b9eeeec8
1:155583887 MSTO1 C>T	1	155583887	155583887	C	T	MSTO1	c.1536C>T	NM_018116.4	NP_060586.2:p.(Ser512=)	NC_000001.10:g.155583887C>T	VUS	1 lab	c4bb59a49b
16:89724667 SPATA33 A>C	16	89724667	89724667	A	C	SPATA33	c.49A>C	NM_001271907.2	NP_001258836.1:p.(Lys17Gln)	NC_000016.9:g.89724667A>C	VUS	1 lab	c4bb9fd826
1:39895537 MACF1 A>G	1	39895537	39895537	A	G	MACF1	c.16927A>G	NM_001394062.1	NP_001380991.1:p.(Ile5643Val)	NC_000001.10:g.39895537A>G	VUS	1 lab	c4bcc58202
3:129280482 PLXND1 G>A	3	129280482	129280482	G	A	PLXND1	c.4993+7C>T	NM_015103.3	NP_055918.3:p.?	NC_000003.11:g.129280482G>A	(Likely) benign	1 lab	c4be3a6b65
3:53164370 RFT1 G>C	3	53164370	53164370	G	C	RFT1	c.47C>G	NM_052859.4	NP_443091.1:p.(Ser16Cys)	NC_000003.11:g.53164370G>C	(Likely) benign	1 lab	c4be810a00
11:70858366 SHANK2 G>A	11	70858366	70858366	G	A	SHANK2	c.7C>T	NM_012309.5	NP_036441.2:p.(Arg3Cys)	NC_000011.9:g.70858366G>A	(Likely) benign	1 lab	c4bf18a903
1:231408144 GNPAT T>G	1	231408144	231408144	T	G	GNPAT	c.1602+7T>G	NM_014236.4	NP_055051.1:p.?	NC_000001.10:g.231408144T>G	(Likely) benign	1 lab	c4c18e5ef6
X:106034342 RNF128 A>G	X	106034342	106034342	A	G	RNF128	c.1031A>G	NM_194463.2	NP_919445.1:p.(Asn344Ser)	NC_000023.10:g.106034342A>G	(Likely) benign	1 lab	c4c1e4172f
6:100061821 PRDM13 C>G	6	100061821	100061821	C	G	PRDM13	c.1310C>G	NM_021620.4	NP_067633.2:p.(Pro437Arg)	NC_000006.11:g.100061821C>G	VUS	1 lab	c4c20a9205
9:86616709 RMI1 AC>A	9	86616709	86616711	AC	A	RMI1	c.810del	NM_001358291.2	NP_001345220.1:p.(Thr271GlnfsTer36)	NC_000009.11:g.86616711del	VUS	1 lab	c4c284a5c4
1:237965133 RYR2 AT>A	1	237965133	237965145	AT	A	RYR2	c.14091-11del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237965145del	(Likely) benign	1 lab	2c8f87bb9a
11:130068523 ST14 C>T	11	130068523	130068523	C	T	ST14	c.1684+7C>T	NM_021978.4	NP_068813.1:p.?	NC_000011.9:g.130068523C>T	(Likely) benign	1 lab	c4c4bff004
7:50771586 GRB10 G>A	7	50771586	50771586	G	A	GRB10	c.71C>T	NM_001350814.2	NP_001337743.1:p.(Pro24Leu)	NC_000007.13:g.50771586G>A	VUS	1 lab	c4c4d7dff2
X:153170461 AVPR2 C>T	X	153170461	153170461	C	T	AVPR2	c.-139C>T	NM_000054.6	NP_000045.1:p.?	NC_000023.10:g.153170461C>T	(Likely) benign	1 lab	c4c95c0683
3:168845664 MECOM C>T	3	168845664	168845664	C	T	MECOM	c.798G>A	NM_004991.4	NP_004982.2:p.(Lys266=)	NC_000003.11:g.168845664C>T	(Likely) benign	1 lab	c4ca455555
4:6303900 WFS1 G>A	4	6303900	6303900	G	A	WFS1	c.2378G>A	NM_006005.3	NP_005996.2:p.(Arg793His)	NC_000004.11:g.6303900G>A	(Likely) benign	1 lab	c4cae643e1
4:73962876 ANKRD17 C>T	4	73962876	73962876	C	T	ANKRD17	c.5135G>A	NM_032217.5	NP_115593.3:p.(Arg1712His)	NC_000004.11:g.73962876C>T	VUS	1 lab	c4caec64fb
1:152280650 FLG G>A	1	152280650	152280650	G	A	FLG	c.6712C>T	NM_002016.2	NP_002007.1:p.(Pro2238Ser)	NC_000001.10:g.152280650G>A	(Likely) benign	1 lab	c4cb81be69
2:160181437 BAZ2B C>G	2	160181437	160181437	C	G	BAZ2B	c.6238G>C	NM_013450.4	NP_038478.2:p.(Glu2080Gln)	NC_000002.11:g.160181437C>G	VUS	1 lab	c4ccc6244b
1:224577608 WDR26 G>GC	1	224577608	224577609	G	GC	WDR26	c.2261-47_2261-46insG	NM_001379403.1	NP_001366332.1:p.?	NC_000001.10:g.224577608_224577609insC	(Likely) benign	1 lab	c4cd50978b
1:155735432 GON4L A>G	1	155735432	155735432	A	G	GON4L	c.3832T>C	NM_001282860.2	NP_001269789.1:p.(Cys1278Arg)	NC_000001.10:g.155735432A>G	(Likely) benign	1 lab	c4cd5a7d01
20:60888251 LAMA5 C>T	20	60888251	60888251	C	T	LAMA5	c.8848G>A	NM_005560.6	NP_005551.3:p.(Gly2950Ser)	NC_000020.10:g.60888251C>T	VUS	1 lab	c4ce014dd3
X:100910836 ARMCX2 T>C	X	100910836	100910836	T	C	ARMCX2	c.1739A>G	NM_177949.4	NP_808818.1:p.(Asn580Ser)	NC_000023.10:g.100910836T>C	VUS	1 lab	c4ce032e97
8:144990356 PLEC C>G	8	144990356	144990356	C	G	PLEC	c.13633G>C	NM_201384.3	NP_958786.1:p.(Ala4545Pro)	NC_000008.10:g.144990356C>G	VUS	1 lab	c4cee91eff
17:78319470 RNF213 C>G	17	78319470	78319470	C	G	RNF213	c.7335C>G	NM_001256071.3	NP_001243000.2:p.(Thr2445=)	NC_000017.10:g.78319470C>G	(Likely) benign	1 lab	c4cf191b2c
12:111785497 CUX2 C>G	12	111785497	111785497	C	G	CUX2	c.3829C>G	NM_015267.4	NP_056082.2:p.(Leu1277Val)	NC_000012.11:g.111785497C>G	VUS	1 lab	c4d081cb50
12:108918160 SART3 CTTT>C	12	108918160	108918163	CTTT	C	SART3	c.2644_2646del	NM_014706.4	NP_055521.1:p.(Lys882del)	NC_000012.11:g.108918161_108918163del	VUS	1 lab	c4d094f181
6:49408064 MMUT A>G	6	49408064	49408064	A	G	MMUT	c.1811T>C	NM_000255.4	NP_000246.2:p.(Val604Ala)	NC_000006.11:g.49408064A>G	VUS	1 lab	c50c40dfd5
9:123313138 CDK5RAP2 G>A	9	123313138	123313138	G	A	CDK5RAP2	c.238C>T	NM_018249.6	NP_060719.4:p.(Arg80Cys)	NC_000009.11:g.123313138G>A	VUS	1 lab	c4d199d493
17:79894739 PYCR1 T>C	17	79894739	79894739	T	C	PYCR1	c.-49A>G	NM_006907.4	NP_008838.2:p.?	NC_000017.10:g.79894739T>C	(Likely) benign	1 lab	c4d1a6aae2
9:91965635 SECISBP2 C>T	9	91965635	91965635	C	T	SECISBP2	c.1981C>T	NM_024077.5	NP_076982.3:p.(Gln661Ter)	NC_000009.11:g.91965635C>T	VUS	1 lab	c4d1bb0254
2:166183273 SCN2A A>G	2	166183273	166183273	A	G	SCN2A	c.2017-89A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183273A>G	(Likely) benign	1 lab	2c9043cde4
4:40245120 RHOH C>T	4	40245120	40245120	C	T	RHOH	c.114C>T	NM_004310.5	NP_004301.1:p.(Tyr38=)	NC_000004.11:g.40245120C>T	(Likely) benign	1 lab	2c9048b6b6
8:100523441 VPS13B A>G	8	100523441	100523441	A	G	VPS13B	c.4409A>G	NM_017890.5	NP_060360.3:p.(Glu1470Gly)	NC_000008.10:g.100523441A>G	VUS	1 lab	2a909512d4
5:41739521 OXCT1 C>G	5	41739521	41739521	C	G	OXCT1	c.1492G>C	NM_000436.4	NP_000427.1:p.(Val498Leu)	NC_000005.9:g.41739521C>G	VUS	1 lab	c4dc0fe429
12:31256795 DDX11 G>A	12	31256795	31256795	G	A	DDX11	c.*25G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31256795G>A	(Likely) benign	1 lab	c4dc2d08c2
11:46896345 LRP4 T>C	11	46896345	46896345	T	C	LRP4	c.4229+6A>G	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46896345T>C	VUS	1 lab	c4dc7b2ed9
6:45514663 RUNX2 C>A	6	45514663	45514663	C	A	RUNX2	c.1187C>A	NM_001024630.4	NP_001019801.3:p.(Ala396Asp)	NC_000006.11:g.45514663C>A	VUS	1 lab	c4dcd73a5d
X:64708944 ZC3H12B G>A	X	64708944	64708944	G	A	ZC3H12B	c.263G>A	NM_001010888.4	NP_001010888.3:p.(Arg88His)	NC_000023.10:g.64708944G>A	VUS	1 lab	c4dedba482
17:47699431 SPOP T>G	17	47699431	47699431	T	G	SPOP	c.79-2A>C	NM_001007228.2	NP_001007229.1:p.?	NC_000017.10:g.47699431T>G	(Likely) pathogenic	1 lab	c4e0f39d28
X:2827930 ARSD C>T	X	2827930	2827930	C	T	ARSD	c.1226G>A	NM_001669.4	NP_001660.2:p.(Gly409Glu)	NC_000023.10:g.2827930C>T	(Likely) benign	1 lab	c4e1346785
21:34923904 SON C>A	21	34923904	34923904	C	A	SON	c.2367C>A	NM_138927.4	NP_620305.3:p.(Ser789Arg)	NC_000021.8:g.34923904C>A	VUS	1 lab	c4e14dfd33
19:36212107 KMT2B C>A	19	36212107	36212107	C	A	KMT2B	c.1858C>A	NM_014727.3	NP_055542.1:p.(Pro620Thr)	NC_000019.9:g.36212107C>A	(Likely) benign	1 lab	c4e18a8bc0
1:27877347 AHDC1 G>C	1	27877347	27877347	G	C	AHDC1	c.1280C>G	NM_001371928.1	NP_001358857.1:p.(Ala427Gly)	NC_000001.10:g.27877347G>C	VUS	1 lab	c4e1efd32d
12:88496733 CEP290 G>A	12	88496733	88496733	G	A	CEP290	c.2873C>T	NM_025114.4	NP_079390.3:p.(Ser958Phe)	NC_000012.11:g.88496733G>A	(Likely) benign	1 lab	c4e221f7bf
13:110830460 COL4A1 G>T	13	110830460	110830460	G	T	COL4A1	c.2577C>A	NM_001845.6	NP_001836.3:p.(Leu859=)	NC_000013.10:g.110830460G>T	(Likely) benign	1 lab	c4e3a016eb
12:56101418 ITGA7 A>G	12	56101418	56101418	A	G	ITGA7	c.49T>C	NM_002206.3	NP_002197.2:p.(Tyr17His)	NC_000012.11:g.56101418A>G	VUS	1 lab	c4e50f9e23
16:2152217 PKD1 CAT>C	16	2152217	2152219	CAT	C	PKD1	c.9240_9241del	NM_001009944.3	NP_001009944.3:p.(Ala3082CysfsTer96)	NC_000016.9:g.2152218_2152219del	(Likely) pathogenic	1 lab	c4e59fcacc
1:16261703 SPEN C>G	1	16261703	16261703	C	G	SPEN	c.8968C>G	NM_015001.3	NP_055816.2:p.(Leu2990Val)	NC_000001.10:g.16261703C>G	(Likely) benign	1 lab	c4e8f9e31f
1:196928028 CFHR2 C>T	1	196928028	196928028	C	T	CFHR2	c.631C>T	NM_005666.4	NP_005657.1:p.(Gln211Ter)	NC_000001.10:g.196928028C>T	VUS	1 lab	c4ed3a51ba
19:41078042 SPTBN4 G>C	19	41078042	41078042	G	C	SPTBN4	c.7437G>C	NM_020971.3	NP_066022.2:p.(Lys2479Asn)	NC_000019.9:g.41078042G>C	(Likely) benign	1 lab	c4ed930769
15:91496515 UNC45A C>T	15	91496515	91496515	C	T	UNC45A	c.2552C>T	NM_018671.5	NP_061141.2:p.(Thr851Met)	NC_000015.9:g.91496515C>T	(Likely) benign	1 lab	c4eeb7fa93
14:99976794 CCNK AC>A	14	99976794	99976796	AC	A	CCNK	c.1420del	NM_001099402.2	NP_001092872.1:p.(His474ThrfsTer106)	NC_000014.8:g.99976796del	VUS	1 lab	c4ef008d80
3:33118642 GLB1 G>GTACCTCTTT	3	33118642	33118644	G	GTACCTCTTT	GLB1	c.76-4438_76-4437insAAAGAGGTA	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33118643_33118644insACCTCTTTT	VUS	1 lab	c4efb24692
9:131344061 SPTAN1 G>C	9	131344061	131344061	G	C	SPTAN1	c.1462G>C	NM_001130438.3	NP_001123910.1:p.(Ala488Pro)	NC_000009.11:g.131344061G>C	(Likely) benign	1 lab	c4f0c3aeb2
7:44192921 GCK G>A	7	44192921	44192921	G	A	GCK	c.187C>T	NM_000162.5	NP_000153.1:p.(Arg63Cys)	NC_000007.13:g.44192921G>A	VUS	1 lab	c4f45eaae8
10:119303018 EMX2 C>A	10	119303018	119303018	C	A	EMX2	c.240C>A	NM_004098.4	NP_004089.1:p.(Asn80Lys)	NC_000010.10:g.119303018C>A	(Likely) benign	1 lab	c4f540da13
19:7830937 CLEC4M G>C	19	7830937	7830937	G	C	CLEC4M	c.628G>C	NM_014257.5	NP_055072.3:p.(Glu210Gln)	NC_000019.9:g.7830937G>C	(Likely) benign	1 lab	c4f69bd0b9
12:96389664 HAL G>A	12	96389664	96389664	G	A	HAL	c.25C>T	NM_002108.4	NP_002099.1:p.(Arg9Cys)	NC_000012.11:g.96389664G>A	(Likely) benign	1 lab	c4f88715ec
6:112382324 CCN6 G>A	6	112382324	112382324	G	A	CCN6	c.179G>A	NM_198239.2	NP_937882.2:p.(Arg60His)	NC_000006.11:g.112382324G>A	(Likely) benign	1 lab	c4f9026c91
22:51117858 SHANK3 T>TGAGTGCTGA	22	51117858	51117860	T	TGAGTGCTGA	SHANK3	c.1110+3_1110+4insAGTGCTGAG	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117859_51117860insAGTGCTGAG	VUS	1 lab	c4f96332c1
X:14708949 GLRA2 C>T	X	14708949	14708949	C	T	GLRA2	c.1048C>T	NM_002063.4	NP_002054.1:p.(Arg350Cys)	NC_000023.10:g.14708949C>T	VUS	1 lab	c4fa0b84bd
15:72955037 GOLGA6B C>T	15	72955037	72955037	C	T	GOLGA6B	c.1292C>T	NM_018652.5	NP_061122.4:p.(Ala431Val)	NC_000015.9:g.72955037C>T	(Likely) benign	1 lab	c4fbee244f
17:40336500 HCRT G>GGCA	17	40336500	40336522	G	GGCA	HCRT	c.65_67dup	NM_001524.1	NP_001515.1:p.(Leu22dup)	NC_000017.10:g.40336520_40336522dup	(Likely) benign	1 lab	c4fe8c9894
7:73442600 ELN G>A	7	73442600	73442600	G	A	ELN	c.82+1G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73442600G>A	(Likely) pathogenic	1 lab	c4fe9ce46d
19:11327581 DOCK6 C>T	19	11327581	11327581	C	T	DOCK6	c.3894+9G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11327581C>T	(Likely) benign	1 lab	c4ffb3af86
11:62387966 B3GAT3 T>C	11	62387966	62387966	T	C	B3GAT3	c.257+3A>G	NM_012200.4	NP_036332.2:p.?	NC_000011.9:g.62387966T>C	VUS	1 lab	c5008f7c15
11:14316412 RRAS2 A>C	11	14316412	14316412	A	C	RRAS2	c.197-4T>G	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14316412A>C	(Likely) benign	1 lab	c502adffb2
10:115357744 NRAP C>G	10	115357744	115357744	C	G	NRAP	c.4316G>C	NM_198060.4	NP_932326.2:p.(Gly1439Ala)	NC_000010.10:g.115357744C>G	VUS	1 lab	c502f96fb9
19:42480621 ATP1A3 CGAAGACGATCTCG>C	19	42480621	42480635	CGAAGACGATCTCG	C	ATP1A3	c.2028_2040del	NM_152296.5	NP_689509.1:p.(Glu677ProfsTer24)	NC_000019.9:g.42480623_42480635del	VUS	1 lab	c503531f9a
9:95477585 BICD2 G>A	9	95477585	95477585	G	A	BICD2	c.2419C>T	NM_001003800.2	NP_001003800.1:p.(Arg807Trp)	NC_000009.11:g.95477585G>A	VUS	1 lab	c50488d3eb
5:26885856 CDH9 T>C	5	26885856	26885856	T	C	CDH9	c.1749A>G	NM_016279.4	NP_057363.3:p.(Thr583=)	NC_000005.9:g.26885856T>C	VUS	1 lab	c5050babc4
2:102842450 IL1RL2 G>A	2	102842450	102842450	G	A	IL1RL2	c.1084G>A	NM_003854.4	NP_003845.2:p.(Asp362Asn)	NC_000002.11:g.102842450G>A	VUS	1 lab	c5063456fe
15:89399738 ACAN G>A	15	89399738	89399738	G	A	ACAN	c.3922G>A	NM_001369268.1	NP_001356197.1:p.(Ala1308Thr)	NC_000015.9:g.89399738G>A	VUS	1 lab	c5076b7ab5
1:152279675 FLG AG>A	1	152279675	152279676	AG	A	FLG	c.7686del	NM_002016.2	NP_002007.1:p.(Trp2563GlyfsTer37)	NC_000001.10:g.152279676del	VUS	1 lab	c507967b7f
22:25121468 PIWIL3 C>T	22	25121468	25121468	C	T	PIWIL3	c.2024G>A	NM_001255975.1	NP_001242904.1:p.(Cys675Tyr)	NC_000022.10:g.25121468C>T	VUS	1 lab	c509f00ec8
4:114280138 ANK2 G>C	4	114280138	114280138	G	C	ANK2	c.10364G>C	NM_001148.6	NP_001139.3:p.(Gly3455Ala)	NC_000004.11:g.114280138G>C	(Likely) benign	1 lab	c50aaf8488
X:140994044 MAGEC1 AGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTC>A	X	140994044	140994142	AGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTATTGAGTC	A	MAGEC1	c.855_952del	NM_005462.5	NP_005453.2:p.(Gln285HisfsTer7)	NC_000023.10:g.140994045_140994142del	VUS	1 lab	c50aca7ada
19:47773891 CCDC9 G>A	19	47773891	47773891	G	A	CCDC9	c.1031G>A	NM_015603.3	NP_056418.1:p.(Arg344His)	NC_000019.9:g.47773891G>A	VUS	1 lab	c50c7514eb
10:124271600 HTRA1 C>G	10	124271600	124271600	C	G	HTRA1	c.1274+19C>G	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124271600C>G	(Likely) benign	1 lab	c50e560296
16:31004732 STX1B A>G	16	31004732	31004732	A	G	STX1B	c.611T>C	NM_052874.5	NP_443106.1:p.(Leu204Pro)	NC_000016.9:g.31004732A>G	VUS	1 lab	c50f90d70d
1:19468217 UBR4 C>G	1	19468217	19468217	C	G	UBR4	c.8234G>C	NM_020765.3	NP_065816.2:p.(Gly2745Ala)	NC_000001.10:g.19468217C>G	(Likely) benign	1 lab	c51134e453
8:22058669 BMP1 C>G	8	22058669	22058669	C	G	BMP1	c.2108-647C>G	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22058669C>G	VUS	1 lab	c511fe6ccc
X:153068927 PDZD4 T>G	X	153068927	153068927	T	G	PDZD4	c.2209A>C	NM_001303512.2	NP_001290441.1:p.(Lys737Gln)	NC_000023.10:g.153068927T>G	VUS	1 lab	c5144eca30
5:37044569 NIPBL A>C	5	37044569	37044569	A	C	NIPBL	c.6229A>C	NM_133433.4	NP_597677.2:p.(Ile2077Leu)	NC_000005.9:g.37044569A>C	(Likely) benign	1 lab	c51564ba57
22:42607816 TCF20 A>G	22	42607816	42607816	A	G	TCF20	c.3496T>C	NM_001378418.1	NP_001365347.1:p.(Ser1166Pro)	NC_000022.10:g.42607816A>G	(Likely) benign	1 lab	c51654b40e
18:42530366 SETBP1 G>C	18	42530366	42530366	G	C	SETBP1	c.1061G>C	NM_015559.3	NP_056374.2:p.(Trp354Ser)	NC_000018.9:g.42530366G>C	VUS	1 lab	c5166a065c
15:89395035 ACAN G>A	15	89395035	89395035	G	A	ACAN	c.2037G>A	NM_001369268.1	NP_001356197.1:p.(Ala679=)	NC_000015.9:g.89395035G>A	(Likely) benign	1 lab	c517537136
11:22646871 FANCF CAG>C	11	22646871	22646877	CAG	C	FANCF	c.484_485del	NM_022725.4	NP_073562.1:p.(Leu162AspfsTer103)	NC_000011.9:g.22646876_22646877del	(Likely) pathogenic	1 lab	c517c3ea1b
20:50405659 SALL4 G>A	20	50405659	50405659	G	A	SALL4	c.2483C>T	NM_020436.5	NP_065169.1:p.(Thr828Met)	NC_000020.10:g.50405659G>A	(Likely) benign	1 lab	c517c6194a
4:1928209 NSD2 T>G	4	1928209	1928209	T	G	NSD2	c.1411-4144T>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1928209T>G	(Likely) benign	1 lab	c518252c99
2:1667443 PXDN C>T	2	1667443	1667443	C	T	PXDN	c.1501G>A	NM_012293.3	NP_036425.1:p.(Glu501Lys)	NC_000002.11:g.1667443C>T	(Likely) benign	1 lab	c51852d28b
X:129147929 BCORL1 C>CTA	X	129147929	129147931	C	CTA	BCORL1	c.1182_1183dup	NM_001379451.1	NP_001366380.1:p.(Thr395IlefsTer24)	NC_000023.10:g.129147930_129147931dup	VUS	1 lab	c51ab9f73a
X:47446040 TIMP1 C>T	X	47446040	47446040	C	T	TIMP1	c.574C>T	NM_003254.3	NP_003245.1:p.(Arg192Trp)	NC_000023.10:g.47446040C>T	VUS	1 lab	c51c06ed91
1:1275804 DVL1 G>C	1	1275804	1275804	G	C	DVL1	c.685C>G	NM_001330311.2	NP_001317240.1:p.(Arg229Gly)	NC_000001.10:g.1275804G>C	(Likely) benign	1 lab	c51c8e7e36
10:13213188 MCM10 G>T	10	13213188	13213188	G	T	MCM10	c.274G>T	NM_182751.3	NP_877428.1:p.(Ala92Ser)	NC_000010.10:g.13213188G>T	VUS	1 lab	2a954adbfd
12:53046037 KRT2 G>GA	12	53046037	53046038	G	GA	KRT2				NC_000012.11:g.53046037_53046038insA	VUS	1 lab	c51e445563
9:72879212 SMC5 T>A	9	72879212	72879212	T	A	SMC5	c.186-8T>A	NM_015110.4	NP_055925.2:p.?	NC_000009.11:g.72879212T>A	(Likely) benign	1 lab	c51ea127e9
15:101606385 LRRK1 G>A	15	101606385	101606385	G	A	LRRK1	c.5743G>A	NM_024652.6	NP_078928.3:p.(Val1915Ile)	NC_000015.9:g.101606385G>A	VUS	1 lab	c51f0d8470
16:2811923 SRRM2 G>A	16	2811923	2811923	G	A	SRRM2	c.1394G>A	NM_016333.4	NP_057417.3:p.(Gly465Asp)	NC_000016.9:g.2811923G>A	VUS	1 lab	c51f263485
11:71192960 NADSYN1 C>T	11	71192960	71192960	C	T	NADSYN1	c.1048-9C>T	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71192960C>T	(Likely) benign	1 lab	c52026c39d
6:165756871 PDE10A A>G	6	165756871	165756871	A	G	PDE10A	c.2895+9T>C	NM_001385079.1	NP_001372008.1:p.?	NC_000006.11:g.165756871A>G	(Likely) benign	1 lab	c5204963f9
19:58189529 ZSCAN4 C>G	19	58189529	58189529	C	G	ZSCAN4	c.563-5C>G	NM_152677.4	NP_689890.1:p.?	NC_000019.9:g.58189529C>G	(Likely) benign	1 lab	c521b5acfb
3:53259769 TKT G>A	3	53259769	53259769	G	A	TKT	c.*3C>T	NM_001064.4	NP_001055.1:p.?	NC_000003.11:g.53259769G>A	VUS	1 lab	c523fca613
11:89531668 TRIM49 G>C	11	89531668	89531668	G	C	TRIM49	c.989C>G	NM_020358.2	NP_065091.1:p.(Ala330Gly)	NC_000011.9:g.89531668G>C	VUS	1 lab	c5245af59c
4:57301549 PPAT A>G	4	57301549	57301549	A	G	PPAT	c.95T>C	NM_002703.5	NP_002694.3:p.(Val32Ala)	NC_000004.11:g.57301549A>G	(Likely) benign	1 lab	c52678e08c
19:9453026 ZNF559 A>T	19	9453026	9453026	A	T	ZNF559	c.899A>T	NM_032497.3	NP_115886.1:p.(Asn300Ile)	NC_000019.9:g.9453026A>T	VUS	1 lab	c5279358ce
3:49054045 DALRD3 C>T	3	49054045	49054045	C	T	DALRD3	c.1063G>A	NM_001009996.3	NP_001009996.1:p.(Asp355Asn)	NC_000003.11:g.49054045C>T	VUS	1 lab	c527f8e121
17:17700695 RAI1 G>A	17	17700695	17700695	G	A	RAI1	c.4433G>A	NM_030665.4	NP_109590.3:p.(Arg1478Gln)	NC_000017.10:g.17700695G>A	VUS	1 lab	c528be6959
8:140922548 TRAPPC9 C>T	8	140922548	140922548	C	T	TRAPPC9	c.2811-4G>A	NM_001160372.4	NP_001153844.1:p.?	NC_000008.10:g.140922548C>T	(Likely) benign	1 lab	c528fd9f40
15:40510660 BUB1B G>C	15	40510660	40510660	G	C	BUB1B	c.2854G>C	NM_001211.6	NP_001202.5:p.(Asp952His)	NC_000015.9:g.40510660G>C	VUS	1 lab	2a99ee3b8c
16:56920986 SLC12A3 G>A	16	56920986	56920986	G	A	SLC12A3	c.2159G>A	NM_000339.3	NP_000330.3:p.(Gly720Asp)	NC_000016.9:g.56920986G>A	(Likely) pathogenic	1 lab	2c96782e31
12:80214711 PPP1R12A G>T	12	80214711	80214711	G	T	PPP1R12A	c.957C>A	NM_002480.3	NP_002471.1:p.(Asn319Lys)	NC_000012.11:g.80214711G>T	(Likely) benign	1 lab	c52c077b96
16:202930 HBZ A>G	16	202930	202930	A	G	HBZ	c.22A>G	NM_005332.3	NP_005323.1:p.(Arg8Gly)	NC_000016.9:g.202930A>G	VUS	1 lab	c52c964e5a
2:152396848 NEB G>A	2	152396848	152396848	G	A	NEB	c.20892+10C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152396848G>A	(Likely) benign	1 lab	c52e325b42
18:21114453 NPC1 C>T	18	21114453	21114453	C	T	NPC1	c.3548G>A	NM_000271.5	NP_000262.2:p.(Arg1183His)	NC_000018.9:g.21114453C>T	VUS	1 lab	c52fdccb66
21:44485340 CBS C>T	21	44485340	44485340	C	T	CBS	c.709G>A	NM_000071.3	NP_000062.1:p.(Ala237Thr)	NC_000021.8:g.44485340C>T	VUS	1 lab	c5301d93fe
15:43025314 CDAN1 CCTT>C	15	43025314	43025319	CCTT	C	CDAN1	c.1435_1437del	NM_138477.4	NP_612486.2:p.(Lys479del)	NC_000015.9:g.43025317_43025319del	VUS	1 lab	c530f9fdd5
8:134233021 CCN4 T>C	8	134233021	134233021	T	C	CCN4	c.547T>C	NM_003882.4	NP_003873.1:p.(Trp183Arg)	NC_000008.10:g.134233021T>C	VUS	1 lab	c531de8ce4
19:47878888 DHX34 G>C	19	47878888	47878888	G	C	DHX34	c.2230G>C	NM_014681.6	NP_055496.2:p.(Glu744Gln)	NC_000019.9:g.47878888G>C	(Likely) benign	1 lab	c53232ac61
11:63987244 FERMT3 C>A	11	63987244	63987244	C	A	FERMT3	c.1062C>A	NM_031471.6	NP_113659.3:p.(Asp354Glu)	NC_000011.9:g.63987244C>A	(Likely) benign	1 lab	c5332242a4
7:5567499 ACTB C>G	7	5567499	5567499	C	G	ACTB	c.1008G>C	NM_001101.5	NP_001092.1:p.(Lys336Asn)	NC_000007.13:g.5567499C>G	(Likely) pathogenic	1 lab	c534cf8cf4
X:44918695 KDM6A G>A	X	44918695	44918695	G	A	KDM6A	c.1178G>A	NM_001291415.2	NP_001278344.1:p.(Arg393Gln)	NC_000023.10:g.44918695G>A	VUS	1 lab	c53696bb1f
11:134051010 NCAPD3 T>TGA	11	134051010	134051014	T	TGA	NCAPD3	c.2519_2520dup	NM_015261.3	NP_056076.1:p.(Lys841SerfsTer15)	NC_000011.9:g.134051013_134051014dup	(Likely) pathogenic	1 lab	c536ee89b5
15:99478667 IGF1R T>C	15	99478667	99478667	T	C	IGF1R	c.3297+12T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99478667T>C	(Likely) benign	1 lab	c5370152da
3:12875306 CAND2 G>A	3	12875306	12875306	G	A	CAND2	c.3536G>A	NM_001162499.2	NP_001155971.1:p.(Arg1179His)	NC_000003.11:g.12875306G>A	VUS	1 lab	c53a5f297a
1:236882230 ACTN2 G>A	1	236882230	236882230	G	A	ACTN2	c.278G>A	NM_001103.4	NP_001094.1:p.(Arg93Gln)	NC_000001.10:g.236882230G>A	VUS	1 lab	c53bc22c53
5:61658283 KIF2A A>T	5	61658283	61658283	A	T	KIF2A	c.1034A>T	NM_001098511.3	NP_001091981.1:p.(Asp345Val)	NC_000005.9:g.61658283A>T	VUS	1 lab	c53c33220e
8:48612971 SPIDR G>A	8	48612971	48612971	G	A	SPIDR	c.1692G>A	NM_001080394.4	NP_001073863.1:p.(Ala564=)	NC_000008.10:g.48612971G>A	VUS	1 lab	c53c353a15
1:212965105 NSL1 T>C	1	212965105	212965105	T	C	NSL1	c.1A>G	NM_015471.4	NP_056286.3:p.(Met1?)	NC_000001.10:g.212965105T>C	VUS	1 lab	c53ca3ec50
9:35794082 NPR2 C>G	9	35794082	35794082	C	G	NPR2	c.855C>G	NM_003995.4	NP_003986.2:p.(Ala285=)	NC_000009.11:g.35794082C>G	(Likely) benign	1 lab	c53cca8516
9:140610925 EHMT1 T>G	9	140610925	140610925	T	G	EHMT1	c.86-153T>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610925T>G	(Likely) benign	1 lab	c540088b2c
17:19645944 ALDH3A1 C>G	17	19645944	19645944	C	G	ALDH3A1	c.395-1G>C	NM_000691.5	NP_000682.3:p.?	NC_000017.10:g.19645944C>G	VUS	1 lab	2aa25312fe
7:48280495 ABCA13 T>C	7	48280495	48280495	T	C	ABCA13	c.1094T>C	NM_152701.5	NP_689914.3:p.(Leu365Pro)	NC_000007.13:g.48280495T>C	VUS	1 lab	c540f86724
11:6651689 DCHS1 G>GCAGCGC	11	6651689	6651706	G	GCAGCGC	DCHS1	c.4330_4335dup	NM_003737.4	NP_003728.1:p.(Ala1444_Leu1445dup)	NC_000011.9:g.6651701_6651706dup	VUS	1 lab	c54228b744
5:74807071 CERT1 C>A	5	74807071	74807071	C	A	CERT1	c.-39G>T	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74807071C>A	VUS	1 lab	c543855433
11:103106488 DYNC2H1 G>A	11	103106488	103106488	G	A	DYNC2H1	c.9655G>A	NM_001377.3	NP_001368.2:p.(Glu3219Lys)	NC_000011.9:g.103106488G>A	VUS	1 lab	c54412b87d
20:4893522 SLC23A2 G>A	20	4893522	4893522	G	A	SLC23A2	c.207+4C>T	NM_005116.6	NP_005107.4:p.?	NC_000020.10:g.4893522G>A	VUS	1 lab	c545ddb76d
18:42448863 SETBP1 A>G	18	42448863	42448863	A	G	SETBP1	c.487-332A>G	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42448863A>G	(Likely) benign	1 lab	c54653bc24
17:7701525 DNAH2 G>A	17	7701525	7701525	G	A	DNAH2	c.8281G>A	NM_020877.5	NP_065928.2:p.(Val2761Met)	NC_000017.10:g.7701525G>A	(Likely) benign	1 lab	c546ff16ba
22:28194346 MN1 C>G	22	28194346	28194346	C	G	MN1	c.2186G>C	NM_002430.3	NP_002421.3:p.(Arg729Pro)	NC_000022.10:g.28194346C>G	VUS	1 lab	c54ca3ceeb
17:74005973 EVPL G>A	17	74005973	74005973	G	A	EVPL	c.3313C>T	NM_001988.4	NP_001979.2:p.(Arg1105Trp)	NC_000017.10:g.74005973G>A	VUS	1 lab	c54cb50792
19:51169717 SHANK1 G>A	19	51169717	51169717	G	A	SHANK1	c.5500C>T	NM_016148.5	NP_057232.2:p.(Pro1834Ser)	NC_000019.9:g.51169717G>A	VUS	1 lab	c54e35a4aa
3:9516200 SETD5 G>A	3	9516200	9516200	G	A	SETD5	c.3565G>A	NM_001080517.3	NP_001073986.1:p.(Val1189Met)	NC_000003.11:g.9516200G>A	(Likely) benign	1 lab	c54e65dfee
13:25482149 CPAP AC>A	13	25482149	25482150	AC	A	CPAP	c.974+6del	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25482150del	VUS	1 lab	c5516d06b5
18:45377669 SMAD2 GAGT>G	18	45377669	45377677	GAGT	G	SMAD2	c.757_759del	NM_005901.6	NP_005892.1:p.(Thr253del)	NC_000018.9:g.45377675_45377677del	VUS	1 lab	c5527ecdeb
21:33723115 URB1 C>T	21	33723115	33723115	C	T	URB1	c.2730G>A	NM_014825.3	NP_055640.2:p.(Val910=)	NC_000021.8:g.33723115C>T	VUS	1 lab	c55287016b
1:202304124 UBE2T G>C	1	202304124	202304124	G	C	UBE2T	c.172C>G	NM_014176.4	NP_054895.1:p.(Pro58Ala)	NC_000001.10:g.202304124G>C	VUS	1 lab	c552bbd602
14:23865490 MYH6 C>T	14	23865490	23865490	C	T	MYH6	c.2429+3G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23865490C>T	(Likely) benign	1 lab	2aa410d4b9
3:134280349 CEP63 CAGTG>C	3	134280349	134280355	CAGTG	C	CEP63	c.2087_2090del	NM_001353108.3	NP_001340037.1:p.(Val696AspfsTer6)	NC_000003.11:g.134280352_134280355del	VUS	1 lab	c553f673e6
13:35570899 NBEA T>A	13	35570899	35570899	T	A	NBEA	c.295-44171T>A	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.35570899T>A	(Likely) benign	1 lab	c556bb3ea6
21:40765105 GET1 T>A	21	40765105	40765105	T	A	GET1	c.350T>A	NM_004627.6	NP_004618.2:p.(Ile117Asn)	NC_000021.8:g.40765105T>A	VUS	1 lab	c55848f67e
19:50412245 NUP62 C>T	19	50412245	50412245	C	T	NUP62	c.820G>A	NM_016553.5	NP_057637.2:p.(Ala274Thr)	NC_000019.9:g.50412245C>T	(Likely) benign	1 lab	c5589df11e
2:145156868 ZEB2 A>C	2	145156868	145156868	A	C	ZEB2	c.1886T>G	NM_014795.4	NP_055610.1:p.(Val629Gly)	NC_000002.11:g.145156868A>C	VUS	1 lab	c55ed3208a
11:55761848 OR5F1 A>G	11	55761848	55761848	A	G	OR5F1	c.254T>C	NM_003697.1	NP_003688.1:p.(Leu85Ser)	NC_000011.9:g.55761848A>G	(Likely) benign	1 lab	c55f441d23
2:27716888 FNDC4 G>T	2	27716888	27716888	G	T	FNDC4	c.363C>A	NM_022823.3	NP_073734.1:p.(Ile121=)	NC_000002.11:g.27716888G>T	(Likely) benign	1 lab	c560b0c11c
X:76938096 ATRX C>G	X	76938096	76938096	C	G	ATRX	c.2652G>C	NM_000489.6	NP_000480.3:p.(Glu884Asp)	NC_000023.10:g.76938096C>G	(Likely) benign	1 lab	c56128c340
X:147011655 FMR1 T>A	X	147011655	147011655	T	A	FMR1	c.522T>A	NM_002024.6	NP_002015.1:p.(Asn174Lys)	NC_000023.10:g.147011655T>A	(Likely) benign	1 lab	c5617bc857
6:26157029 H1-4 G>GC	6	26157029	26157032	G	GC	H1-4	c.414dup	NM_005321.3	NP_005312.1:p.(Lys139GlnfsTer57)	NC_000006.11:g.26157032dup	(Likely) pathogenic	1 lab	c561a722dc
8:121275225 COL14A1 A>G	8	121275225	121275225	A	G	COL14A1	c.2988A>G	NM_021110.4	NP_066933.1:p.(Gly996=)	NC_000008.10:g.121275225A>G	(Likely) benign	1 lab	c562ed5ac6
12:109647036 ACACB C>T	12	109647036	109647036	C	T	ACACB	c.3127C>T	NM_001093.4	NP_001084.3:p.(Gln1043Ter)	NC_000012.11:g.109647036C>T	VUS	1 lab	c563e546c6
12:49446154 KMT2D TCTC>T	12	49446154	49446160	TCTC	T	KMT2D	c.1309_1311del	NM_003482.4	NP_003473.3:p.(Glu437del)	NC_000012.11:g.49446158_49446160del	(Likely) benign	1 lab	c5646f0d51
19:13446633 CACNA1A C>T	19	13446633	13446633	C	T	CACNA1A	c.1069G>A	NM_001127222.2	NP_001120694.1:p.(Gly357Ser)	NC_000019.9:g.13446633C>T	VUS	1 lab	c564752db5
2:179631318 TTN C>T	2	179631318	179631318	C	T	TTN	c.9493G>A	NM_001267550.2	NP_001254479.2:p.(Val3165Ile)	NC_000002.11:g.179631318C>T	VUS	1 lab	c565214564
1:200577948 KIF14 T>G	1	200577948	200577948	T	G	KIF14	c.1554+10A>C	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200577948T>G	(Likely) benign	1 lab	c565891dcd
6:162206917 PRKN C>T	6	162206917	162206917	C	T	PRKN	c.758G>A	NM_004562.3	NP_004553.2:p.(Cys253Tyr)	NC_000006.11:g.162206917C>T	(Likely) pathogenic	1 lab	2aa520af01
1:8555123 RERE T>G	1	8555123	8555123	T	G	RERE	c.1104A>C	NM_001042681.2	NP_001036146.1:p.(Thr368=)	NC_000001.10:g.8555123T>G	(Likely) benign	1 lab	c56d932802
16:68718601 CDH3 A>G	16	68718601	68718601	A	G	CDH3	c.1298A>G	NM_001793.6	NP_001784.2:p.(Asp433Gly)	NC_000016.9:g.68718601A>G	VUS	1 lab	c5db69e73a
6:12749861 PHACTR1 CCTT>C	6	12749861	12749866	CCTT	C	PHACTR1	c.104-12_104-10del	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.12749864_12749866del	(Likely) benign	1 lab	c56d9b5423
17:17699404 RAI1 G>A	17	17699404	17699404	G	A	RAI1	c.3142G>A	NM_030665.4	NP_109590.3:p.(Ala1048Thr)	NC_000017.10:g.17699404G>A	(Likely) benign	1 lab	c56e7d53d8
3:183860894 EIF2B5 C>T	3	183860894	183860894	C	T	EIF2B5	c.1709C>T	NM_003907.3	NP_003898.2:p.(Ser570Phe)	NC_000003.11:g.183860894C>T	VUS	1 lab	c56f659fb3
6:51918819 PKHD1 C>A	6	51918819	51918819	C	A	PKHD1	c.1964+17G>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51918819C>A	(Likely) benign	1 lab	c56f7b6d42
19:14031646 CC2D1A G>A	19	14031646	14031646	G	A	CC2D1A	c.1552G>A	NM_017721.5	NP_060191.3:p.(Glu518Lys)	NC_000019.9:g.14031646G>A	VUS	1 lab	2aa5da8c9e
18:18964260 GREB1L A>G	18	18964260	18964260	A	G	GREB1L	c.251A>G	NM_001142966.3	NP_001136438.1:p.(Asn84Ser)	NC_000018.9:g.18964260A>G	VUS	1 lab	c57145500c
11:1782654 CTSD T>G	11	1782654	1782654	T	G	CTSD	c.113A>C	NM_001909.5	NP_001900.1:p.(Glu38Ala)	NC_000011.9:g.1782654T>G	VUS	1 lab	c571a74879
1:2450744 PANK4 C>T	1	2450744	2450744	C	T	PANK4	c.873G>A	NM_018216.4	NP_060686.3:p.(Met291Ile)	NC_000001.10:g.2450744C>T	VUS	1 lab	c574bbfd9e
16:88793988 PIEZO1 G>A	16	88793988	88793988	G	A	PIEZO1	c.3278C>T	NM_001142864.4	NP_001136336.2:p.(Ala1093Val)	NC_000016.9:g.88793988G>A	(Likely) benign	1 lab	c578d1f2e1
X:100497365 DRP2 G>T	X	100497365	100497365	G	T	DRP2	c.880G>T	NM_001939.3	NP_001930.2:p.(Asp294Tyr)	NC_000023.10:g.100497365G>T	VUS	1 lab	c578ed011a
10:129904087 MKI67 A>G	10	129904087	129904087	A	G	MKI67	c.6017T>C	NM_002417.5	NP_002408.3:p.(Val2006Ala)	NC_000010.10:g.129904087A>G	(Likely) benign	1 lab	c579385459
11:71943698 INPPL1 C>T	11	71943698	71943698	C	T	INPPL1	c.1741C>T	NM_001567.4	NP_001558.3:p.(Arg581Trp)	NC_000011.9:g.71943698C>T	VUS	1 lab	c57a0c86a5
19:50335184 MED25 C>T	19	50335184	50335184	C	T	MED25	c.1231-9C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50335184C>T	(Likely) benign	1 lab	c57a6c734f
8:144991772 PLEC C>T	8	144991772	144991772	C	T	PLEC	c.12217G>A	NM_201384.3	NP_958786.1:p.(Asp4073Asn)	NC_000008.10:g.144991772C>T	VUS	1 lab	c57c62ff64
2:15614262 NBAS G>A	2	15614262	15614262	G	A	NBAS	c.1528C>T	NM_015909.4	NP_056993.2:p.(Arg510Ter)	NC_000002.11:g.15614262G>A	(Likely) pathogenic	1 lab	c57c9d92db
3:41274877 CTNNB1 G>A	3	41274877	41274877	G	A	CTNNB1	c.1127G>A	NM_001904.4	NP_001895.1:p.(Arg376His)	NC_000003.11:g.41274877G>A	VUS	1 lab	c57ff5ca95
X:118221057 KIAA1210 G>A	X	118221057	118221057	G	A	KIAA1210	c.3608C>T	NM_001394962.1	NP_001381891.1:p.(Ser1203Phe)	NC_000023.10:g.118221057G>A	(Likely) benign	1 lab	c582fdd913
17:76802280 USP36 G>C	17	76802280	76802280	G	C	USP36	c.2174C>G	NM_001385174.1	NP_001372103.1:p.(Ser725Cys)	NC_000017.10:g.76802280G>C	VUS	1 lab	c583ffefb2
16:53644955 RPGRIP1L C>T	16	53644955	53644955	C	T	RPGRIP1L	c.3625G>A	NM_015272.5	NP_056087.2:p.(Val1209Met)	NC_000016.9:g.53644955C>T	(Likely) benign	1 lab	c584b3afe6
10:28908480 WAC GACA>G	10	28908480	28908487	GACA	G	WAC	c.1894_1896del	NM_016628.5	NP_057712.2:p.(Gln632del)	NC_000010.10:g.28908485_28908487del	VUS	1 lab	c585d32eb2
14:68236522 ZFYVE26 G>A	14	68236522	68236522	G	A	ZFYVE26	c.5485-75C>T	NM_015346.4	NP_056161.2:p.?	NC_000014.8:g.68236522G>A	(Likely) benign	1 lab	2aa6a0cc8c
16:2378444 ABCA3 A>T	16	2378444	2378444	A	T	ABCA3	c.-27+10T>A	NM_001089.3	NP_001080.2:p.?	NC_000016.9:g.2378444A>T	(Likely) benign	1 lab	c58688fe0b
20:62168509 PTK6 C>T	20	62168509	62168509	C	T	PTK6	c.159G>A	NM_005975.4	NP_005966.1:p.(Ala53=)	NC_000020.10:g.62168509C>T	VUS	1 lab	c58744cf26
6:160968864 LPA G>A	6	160968864	160968864	G	A	LPA	c.5261C>T	NM_005577.4	NP_005568.2:p.(Thr1754Met)	NC_000006.11:g.160968864G>A	(Likely) benign	1 lab	c587e69ae3
3:184073148 CLCN2 C>T	3	184073148	184073148	C	T	CLCN2	c.1326+14G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184073148C>T	(Likely) benign	1 lab	c5887d31fc
1:75038045 ERICH3 CTT>C	1	75038045	75038049	CTT	C	ERICH3	c.3347_3348del	NM_001002912.5	NP_001002912.4:p.(Lys1116SerfsTer5)	NC_000001.10:g.75038048_75038049del	VUS	1 lab	c589b94694
6:101110403 ASCC3 A>G	6	101110403	101110403	A	G	ASCC3	c.2296T>C	NM_006828.4	NP_006819.2:p.(Ser766Pro)	NC_000006.11:g.101110403A>G	(Likely) benign	1 lab	c58a77af9a
8:15967649 MSR1 C>T	8	15967649	15967649	C	T	MSR1	c.1301G>A	NM_138715.3	NP_619729.1:p.(Trp434Ter)	NC_000008.10:g.15967649C>T	VUS	1 lab	c58c23d34d
6:15497234 JARID2 C>T	6	15497234	15497234	C	T	JARID2	c.1778C>T	NM_004973.4	NP_004964.2:p.(Pro593Leu)	NC_000006.11:g.15497234C>T	VUS	1 lab	c58d5086a1
1:24432539 MYOM3 T>A	1	24432539	24432539	T	A	MYOM3	c.431A>T	NM_152372.4	NP_689585.3:p.(Glu144Val)	NC_000001.10:g.24432539T>A	VUS	1 lab	c58e3834b3
19:50101031 PRR12 C>T	19	50101031	50101031	C	T	PRR12	c.3439C>T	NM_020719.3	NP_065770.1:p.(Pro1147Ser)	NC_000019.9:g.50101031C>T	(Likely) benign	1 lab	c58ef7c8ad
4:997827 IDUA C>A	4	997827	997827	C	A	IDUA	c.1755C>A	NM_000203.5	NP_000194.2:p.(Phe585Leu)	NC_000004.11:g.997827C>A	VUS	1 lab	c58ef84013
2:163167370 IFIH1 T>C	2	163167370	163167370	T	C	IFIH1	c.527A>G	NM_022168.4	NP_071451.2:p.(Asn176Ser)	NC_000002.11:g.163167370T>C	(Likely) benign	1 lab	c591d8ed31
17:73616628 MYO15B C>T	17	73616628	73616628	C	T	MYO15B	c.7637C>T	NM_001395058.1	NP_001381987.1:p.(Ser2546Phe)	NC_000017.10:g.73616628C>T	VUS	1 lab	c592a2d426
1:160011281 KCNJ10 G>A	1	160011281	160011281	G	A	KCNJ10	c.1042C>T	NM_002241.5	NP_002232.2:p.(Arg348Cys)	NC_000001.10:g.160011281G>A	VUS	1 lab	c592f603a8
19:13318866 CACNA1A C>T	19	13318866	13318866	C	T	CACNA1A	c.6782G>A	NM_001127222.2	NP_001120694.1:p.(Gly2261Asp)	NC_000019.9:g.13318866C>T	VUS	1 lab	c5932a7dfd
10:69991419 ATOH7 G>T	10	69991419	69991419	G	T	ATOH7	c.16C>A	NM_145178.4	NP_660161.1:p.(Pro6Thr)	NC_000010.10:g.69991419G>T	(Likely) benign	1 lab	c594a03843
19:33793062 CEBPA G>A	19	33793062	33793062	G	A	CEBPA	c.259C>T	NM_004364.3	NP_004355.2:p.(Gln87Ter)	NC_000019.9:g.33793062G>A	VUS	1 lab	2c9c5665ef
X:150911721 CNGA2 G>A	X	150911721	150911721	G	A	CNGA2	c.746G>A	NM_005140.3	NP_005131.1:p.(Arg249His)	NC_000023.10:g.150911721G>A	VUS	1 lab	c5956735db
7:121733135 AASS T>G	7	121733135	121733135	T	G	AASS	c.1733A>C	NM_005763.4	NP_005754.2:p.(Tyr578Ser)	NC_000007.13:g.121733135T>G	VUS	1 lab	c595f18c34
X:117742327 DOCK11 C>G	X	117742327	117742327	C	G	DOCK11	c.2877+8C>G	NM_144658.4	NP_653259.3:p.?	NC_000023.10:g.117742327C>G	(Likely) benign	1 lab	c595fb1ec2
21:45750346 CFAP410 C>T	21	45750346	45750346	C	T	CFAP410	c.643-137G>A	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45750346C>T	(Likely) benign	1 lab	c5960a495c
1:24646237 GRHL3 GGTGA>G	1	24646237	24646244	GGTGA	G	GRHL3	c.17+183_17+186del	NM_198173.3	NP_937816.1:p.?	NC_000001.10:g.24646241_24646244del	(Likely) benign	1 lab	c596d092bc
15:63940360 HERC1 G>A	15	63940360	63940360	G	A	HERC1	c.10786C>T	NM_003922.4	NP_003913.3:p.(Pro3596Ser)	NC_000015.9:g.63940360G>A	(Likely) benign	1 lab	c597d16deb
2:152402515 NEB T>TAAAAA	2	152402515	152402532	T	TAAAAA	NEB	c.20467-8_20467-4dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152402528_152402532dup	(Likely) benign	1 lab	c59c023975
7:148523585 EZH2 A>C	7	148523585	148523585	A	C	EZH2	c.868T>G	NM_004456.5	NP_004447.2:p.(Phe290Val)	NC_000007.13:g.148523585A>C	VUS	1 lab	c59c386e41
12:65113803 GNS C>T	12	65113803	65113803	C	T	GNS	c.1579G>A	NM_002076.4	NP_002067.1:p.(Gly527Arg)	NC_000012.11:g.65113803C>T	(Likely) benign	1 lab	c59ebd86ed
1:27875080 AHDC1 G>C	1	27875080	27875080	G	C	AHDC1	c.3547C>G	NM_001371928.1	NP_001358857.1:p.(Arg1183Gly)	NC_000001.10:g.27875080G>C	(Likely) benign	1 lab	c5a0cce84c
16:81929446 PLCG2 C>T	16	81929446	81929446	C	T	PLCG2	c.1107C>T	NM_002661.3	NP_002652.2:p.(Val369=)	NC_000016.9:g.81929446C>T	(Likely) benign	1 lab	331a3fb2db
4:103647848 MANBA T>C	4	103647848	103647848	T	C	MANBA	c.178-8A>G	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103647848T>C	(Likely) benign	1 lab	c5a2cb8390
9:34179087 UBAP1 C>A	9	34179087	34179087	C	A	UBAP1	c.-159C>A	NM_016525.5	NP_057609.2:p.?	NC_000009.11:g.34179087C>A	VUS	1 lab	c5a4257551
1:160109707 ATP1A2 C>T	1	160109707	160109707	C	T	ATP1A2	c.2967C>T	NM_000702.4	NP_000693.1:p.(Phe989=)	NC_000001.10:g.160109707C>T	(Likely) benign	1 lab	c5a6804135
16:613890 PRR35 C>T	16	613890	613890	C	T	PRR35	c.596C>T	NM_145270.3	NP_660313.1:p.(Pro199Leu)	NC_000016.9:g.613890C>T	VUS	1 lab	c5a9d5616d
22:21346527 LZTR1 C>T	22	21346527	21346527	C	T	LZTR1	c.1018C>T	NM_006767.4	NP_006758.2:p.(Arg340Ter)	NC_000022.10:g.21346527C>T	(Likely) pathogenic	1 lab	c5aa72a814
5:14749313 ANKH G>A	5	14749313	14749313	G	A	ANKH	c.790C>T	NM_054027.6	NP_473368.1:p.(Arg264Trp)	NC_000005.9:g.14749313G>A	VUS	1 lab	c5ab97da15
1:36227664 CLSPN T>C	1	36227664	36227664	T	C	CLSPN	c.830A>G	NM_022111.4	NP_071394.2:p.(Lys277Arg)	NC_000001.10:g.36227664T>C	VUS	1 lab	c5abc469cd
12:432762 KDM5A A>T	12	432762	432762	A	T	KDM5A	c.2150+4T>A	NM_001042603.3	NP_001036068.1:p.?	NC_000012.11:g.432762A>T	VUS	1 lab	c5ac598c9b
15:89382255 ACAN C>A	15	89382255	89382255	C	A	ACAN	c.432C>A	NM_001369268.1	NP_001356197.1:p.(Ala144=)	NC_000015.9:g.89382255C>A	(Likely) benign	1 lab	c5acb2e8b6
X:118222290 KIAA1210 T>C	X	118222290	118222290	T	C	KIAA1210	c.2375A>G	NM_001394962.1	NP_001381891.1:p.(Lys792Arg)	NC_000023.10:g.118222290T>C	VUS	1 lab	c5acde9669
2:179498604 TTN T>C	2	179498604	179498604	T	C	TTN	c.42622A>G	NM_001267550.2	NP_001254479.2:p.(Ile14208Val)	NC_000002.11:g.179498604T>C	VUS	1 lab	c5b117f673
13:101777035 NALCN G>GA	13	101777035	101777039	G	GA	NALCN	c.2119-4dup	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101777039dup	(Likely) benign	1 lab	c5b11d98ef
X:152936744 PNCK T>C	X	152936744	152936744	T	C	PNCK	c.610A>G	NM_001366977.1	NP_001353906.1:p.(Ile204Val)	NC_000023.10:g.152936744T>C	VUS	1 lab	c5b2bb3c13
4:6303770 WFS1 G>A	4	6303770	6303770	G	A	WFS1	c.2248G>A	NM_006005.3	NP_005996.2:p.(Ala750Thr)	NC_000004.11:g.6303770G>A	(Likely) benign	1 lab	c5b2f5131d
1:205810988 PM20D1 G>A	1	205810988	205810988	G	A	PM20D1	c.995C>T	NM_152491.5	NP_689704.4:p.(Ala332Val)	NC_000001.10:g.205810988G>A	VUS	1 lab	c5b36fccff
2:179593860 TTN G>T	2	179593860	179593860	G	T	TTN	c.18905C>A	NM_001267550.2	NP_001254479.2:p.(Thr6302Asn)	NC_000002.11:g.179593860G>T	VUS	1 lab	c5b456431f
1:202767258 KDM5B C>T	1	202767258	202767258	C	T	KDM5B	c.204+9972G>A	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202767258C>T	(Likely) benign	1 lab	c5b6204096
14:91791269 CCDC88C T>TG	14	91791269	91791273	T	TG	CCDC88C	c.1198-3dup	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91791273dup	(Likely) benign	1 lab	c5b66bddab
22:29627111 EMID1 G>A	22	29627111	29627111	G	A	EMID1	c.568G>A	NM_133455.4	NP_597712.2:p.(Gly190Arg)	NC_000022.10:g.29627111G>A	VUS	1 lab	c5b76c5a07
1:23757586 ASAP3 G>A	1	23757586	23757586	G	A	ASAP3	c.2579C>T	NM_017707.4	NP_060177.2:p.(Ala860Val)	NC_000001.10:g.23757586G>A	VUS	1 lab	c5b826613e
1:39847783 MACF1 A>G	1	39847783	39847783	A	G	MACF1	c.13807A>G	NM_001394062.1	NP_001380991.1:p.(Ile4603Val)	NC_000001.10:g.39847783A>G	(Likely) benign	1 lab	c5b996d14d
9:139391163 NOTCH1 T>A	9	139391163	139391163	T	A	NOTCH1	c.7028A>T	NM_017617.5	NP_060087.3:p.(Gln2343Leu)	NC_000009.11:g.139391163T>A	VUS	1 lab	c5be3121be
10:102749620 TWNK T>C	10	102749620	102749620	T	C	TWNK	c.1463T>C	NM_021830.5	NP_068602.2:p.(Phe488Ser)	NC_000010.10:g.102749620T>C	VUS	1 lab	c5befdd49d
X:153582378 FLNA T>C	X	153582378	153582378	T	C	FLNA	c.5591A>G	NM_001110556.2	NP_001104026.1:p.(Asn1864Ser)	NC_000023.10:g.153582378T>C	VUS	1 lab	c5bfe4cb00
1:154408465 IL6R C>T	1	154408465	154408465	C	T	IL6R	c.828C>T	NM_000565.4	NP_000556.1:p.(His276=)	NC_000001.10:g.154408465C>T	(Likely) benign	1 lab	2ca1507687
17:10539158 MYH3 C>T	17	10539158	10539158	C	T	MYH3	c.3869G>A	NM_002470.4	NP_002461.2:p.(Arg1290His)	NC_000017.10:g.10539158C>T	VUS	1 lab	c5c22fb3e4
12:120156206 CIT G>A	12	120156206	120156206	G	A	CIT	c.4012C>T	NM_001206999.2	NP_001193928.1:p.(Arg1338Cys)	NC_000012.11:g.120156206G>A	VUS	1 lab	c5c6fc0ee5
8:11614469 GATA4 T>C	8	11614469	11614469	T	C	GATA4	c.1026T>C	NM_001308093.3	NP_001295022.1:p.(Pro342=)	NC_000008.10:g.11614469T>C	(Likely) benign	1 lab	c5c935843b
4:88901197 SPP1 G>A	4	88901197	88901197	G	A	SPP1	c.94-1G>A	NM_001040058.2	NP_001035147.1:p.?	NC_000004.11:g.88901197G>A	VUS	1 lab	c612af26f3
2:74596530 DCTN1 G>A	2	74596530	74596530	G	A	DCTN1	c.1481C>T	NM_004082.5	NP_004073.2:p.(Ala494Val)	NC_000002.11:g.74596530G>A	VUS	1 lab	c5cab0df29
7:103202396 RELN G>A	7	103202396	103202396	G	A	RELN	c.5215C>T	NM_005045.4	NP_005036.2:p.(Pro1739Ser)	NC_000007.13:g.103202396G>A	(Likely) benign	1 lab	c5cd225b60
1:22166403 HSPG2 C>T	1	22166403	22166403	C	T	HSPG2	c.9621G>A	NM_005529.7	NP_005520.4:p.(Met3207Ile)	NC_000001.10:g.22166403C>T	(Likely) benign	1 lab	c5cd68b18d
9:140707894 EHMT1 G>A	9	140707894	140707894	G	A	EHMT1	c.3092G>A	NM_024757.5	NP_079033.4:p.(Ser1031Asn)	NC_000009.11:g.140707894G>A	(Likely) benign	1 lab	c5cd9abb4f
4:54231354 SCFD2 T>C	4	54231354	54231354	T	C	SCFD2	c.755A>G	NM_152540.4	NP_689753.2:p.(Asn252Ser)	NC_000004.11:g.54231354T>C	(Likely) benign	1 lab	c5ce3ae87e
2:179615751 TTN G>T	2	179615751	179615751	G	T	TTN	c.11311+2100C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615751G>T	(Likely) benign	1 lab	c5d265eea7
20:47607611 ARFGEF2 G>A	20	47607611	47607611	G	A	ARFGEF2	c.2849G>A	NM_006420.3	NP_006411.2:p.(Arg950His)	NC_000020.10:g.47607611G>A	VUS	1 lab	c5d35821ad
10:61846528 ANK3 T>C	10	61846528	61846528	T	C	ANK3	c.3655A>G	NM_020987.5	NP_066267.2:p.(Thr1219Ala)	NC_000010.10:g.61846528T>C	VUS	1 lab	c5d36ff7f4
1:215932060 USH2A C>T	1	215932060	215932060	C	T	USH2A	c.11266G>A	NM_206933.4	NP_996816.3:p.(Gly3756Ser)	NC_000001.10:g.215932060C>T	VUS	1 lab	c5d40ad70b
6:33135590 COL11A2 C>G	6	33135590	33135590	C	G	COL11A2	c.4000G>C	NM_080680.3	NP_542411.2:p.(Gly1334Arg)	NC_000006.11:g.33135590C>G	(Likely) benign	1 lab	c5d48c96c1
17:29559086 NF1 TTCAG>T	17	29559086	29559090	TTCAG	T	NF1	c.3198-4_3198-1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559087_29559090del	VUS	1 lab	c5d4b50583
5:14508071 TRIO C>T	5	14508071	14508071	C	T	TRIO	c.8834C>T	NM_007118.4	NP_009049.2:p.(Thr2945Met)	NC_000005.9:g.14508071C>T	VUS	1 lab	c5d4fd1a73
18:12340252 AFG3L2 G>GT	18	12340252	12340253	G	GT	AFG3L2	c.1927dup	NM_006796.3	NP_006787.2:p.(Thr643AsnfsTer7)	NC_000018.9:g.12340253dup	(Likely) benign	1 lab	c5d510cd71
3:38539112 EXOG A>ATTTTT	3	38539112	38539117	A	ATTTTT	EXOG	c.164-7_164-3dup	NM_005107.4	NP_005098.2:p.?	NC_000003.11:g.38539113_38539117dup	(Likely) benign	1 lab	c5d67d9053
2:70524477 TIMCC G>C	2	70524477	70524477	G	C	TIMCC	c.682C>G	NM_001329752.2	NP_001316681.1:p.(Leu228Val)	NC_000002.11:g.70524477G>C	(Likely) benign	1 lab	c5d6e7799a
X:152710630 TREX2 G>A	X	152710630	152710630	G	A	TREX2	c.259C>T	NM_080701.4	NP_542432.2:p.(Arg87Ter)	NC_000023.10:g.152710630G>A	VUS	1 lab	c5d718061b
X:123680772 TENM1 C>A	X	123680772	123680772	C	A	TENM1	c.2603G>T	NM_001163278.2	NP_001156750.1:p.(Gly868Val)	NC_000023.10:g.123680772C>A	(Likely) benign	1 lab	c5d77afc2f
17:29553493 NF1 G>A	17	29553493	29553493	G	A	NF1	c.2042G>A	NM_001042492.3	NP_001035957.1:p.(Arg681Gln)	NC_000017.10:g.29553493G>A	VUS	1 lab	c5d7a1715b
9:123253728 CDK5RAP2 G>C	9	123253728	123253728	G	C	CDK5RAP2	c.1339C>G	NM_018249.6	NP_060719.4:p.(Arg447Gly)	NC_000009.11:g.123253728G>C	VUS	1 lab	c5d9576451
5:180051071 FLT4 C>T	5	180051071	180051071	C	T	FLT4	c.1422-10G>A	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180051071C>T	(Likely) benign	1 lab	c5da2a15f0
22:34046418 LARGE1 G>A	22	34046418	34046418	G	A	LARGE1	c.343C>T	NM_133642.5	NP_598397.1:p.(Arg115Trp)	NC_000022.10:g.34046418G>A	VUS	1 lab	c5db3bda47
2:234104148 INPP5D T>C	2	234104148	234104148	T	C	INPP5D	c.2693+7T>C	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.234104148T>C	(Likely) benign	1 lab	c5db6aa5f4
17:79514467 FAAP100 C>T	17	79514467	79514467	C	T	FAAP100	c.1641G>A	NM_025161.6	NP_079437.5:p.(Val547=)	NC_000017.10:g.79514467C>T	VUS	1 lab	c5dbcf8680
16:10864155 TVP23A C>T	16	10864155	10864155	C	T	TVP23A	c.616G>A	NM_001079512.4	NP_001072980.1:p.(Glu206Lys)	NC_000016.9:g.10864155C>T	(Likely) benign	1 lab	c5dec58f13
2:219525942 BCS1L A>G	2	219525942	219525942	A	G	BCS1L	c.232A>G	NM_004328.5	NP_004319.1:p.(Ser78Gly)	NC_000002.11:g.219525942A>G	(Likely) pathogenic	1 lab	2aa79522b0
19:43411721 PSG6 T>C	19	43411721	43411721	T	C	PSG6	c.985+7A>G	NM_001031850.4	NP_001027020.1:p.?	NC_000019.9:g.43411721T>C	(Likely) benign	1 lab	c5dfe92c46
6:43015877 CUL7 CA>C	6	43015877	43015878	CA	C	CUL7	c.2169+8del	NM_014780.5	NP_055595.2:p.?	NC_000006.11:g.43015878del	(Likely) benign	1 lab	c5e1cfec71
17:71201800 COG1 C>T	17	71201800	71201800	C	T	COG1	c.2491C>T	NM_018714.3	NP_061184.1:p.(Arg831Trp)	NC_000017.10:g.71201800C>T	VUS	1 lab	c5e48afcf6
7:75210555 HIP1 G>A	7	75210555	75210555	G	A	HIP1	c.602C>T	NM_005338.7	NP_005329.3:p.(Thr201Ile)	NC_000007.13:g.75210555G>A	VUS	1 lab	c5e5003f6a
12:110778542 ATP2A2 C>T	12	110778542	110778542	C	T	ATP2A2	c.1840C>T	NM_170665.4	NP_733765.1:p.(Arg614Trp)	NC_000012.11:g.110778542C>T	VUS	1 lab	c5e893005e
19:55087544 LILRA2 T>A	19	55087544	55087544	T	A	LILRA2	c.1223T>A	NM_001130917.3	NP_001124389.2:p.(Leu408His)	NC_000019.9:g.55087544T>A	(Likely) benign	1 lab	c5e8d30bab
2:220500204 SLC4A3 C>T	2	220500204	220500204	C	T	SLC4A3	c.1958C>T	NM_005070.4	NP_005061.3:p.(Thr653Met)	NC_000002.11:g.220500204C>T	(Likely) benign	1 lab	c5e9551ac7
2:32770769 BIRC6 C>T	2	32770769	32770769	C	T	BIRC6	c.12652C>T	NM_016252.4	NP_057336.3:p.(Arg4218Cys)	NC_000002.11:g.32770769C>T	VUS	1 lab	c5e9e173b8
2:39278278 SOS1 T>C	2	39278278	39278278	T	C	SOS1	c.864+7A>G	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39278278T>C	(Likely) benign	1 lab	c5e9e50be7
19:15285190 NOTCH3 G>GCAGT	19	15285190	15285194	G	GCAGT	NOTCH3	c.4421_4424dup	NM_000435.3	NP_000426.2:p.(Cys1475Ter)	NC_000019.9:g.15285191_15285194dup	(Likely) pathogenic	1 lab	c5eab8f4b8
7:92734680 SAMD9 TG>T	7	92734680	92734684	TG	T	SAMD9	c.730del	NM_017654.4	NP_060124.2:p.(His244MetfsTer23)	NC_000007.13:g.92734684del	VUS	1 lab	c5eb2390e7
6:4073695 FAM217A A>G	6	4073695	4073695	A	G	FAM217A	c.206T>C	NM_173563.3	NP_775834.2:p.(Leu69Ser)	NC_000006.11:g.4073695A>G	(Likely) benign	1 lab	c5eb6a7f25
16:1825897 EME2 G>C	16	1825897	1825897	G	C	EME2	c.879G>C	NM_001257370.2	NP_001244299.1:p.(Trp293Cys)	NC_000016.9:g.1825897G>C	VUS	1 lab	c5fba12a3f
1:10699143 CASZ1 GTCGTCGTCGTCC>G	1	10699143	10699178	GTCGTCGTCGTCC	G	CASZ1	c.5124_5135del	NM_001079843.3	NP_001073312.1:p.(Glu1708_Asp1711del)	NC_000001.10:g.10699167_10699178del	VUS	1 lab	c5ed6e257f
15:57731384 CGNL1 G>T	15	57731384	57731384	G	T	CGNL1	c.1187G>T	NM_032866.5	NP_116255.2:p.(Gly396Val)	NC_000015.9:g.57731384G>T	(Likely) benign	1 lab	c5eda24724
19:18899072 COMP G>A	19	18899072	18899072	G	A	COMP	c.924C>T	NM_000095.3	NP_000086.2:p.(Ile308=)	NC_000019.9:g.18899072G>A	(Likely) benign	1 lab	c5edd381ed
X:140994095 MAGEC1 C>T	X	140994095	140994095	C	T	MAGEC1	c.905C>T	NM_005462.5	NP_005453.2:p.(Pro302Leu)	NC_000023.10:g.140994095C>T	(Likely) benign	1 lab	c5f0082f43
11:134023044 NCAPD3 G>A	11	134023044	134023044	G	A	NCAPD3	c.4379C>T	NM_015261.3	NP_056076.1:p.(Pro1460Leu)	NC_000011.9:g.134023044G>A	VUS	1 lab	c5f09ac938
5:32780909 NPR3 C>A	5	32780909	32780909	C	A	NPR3	c.1277C>A	NM_001204375.2	NP_001191304.1:p.(Ala426Glu)	NC_000005.9:g.32780909C>A	VUS	1 lab	c5f4db2307
22:21174015 PI4KA G>A	22	21174015	21174015	G	A	PI4KA	c.703C>T	NM_058004.4	NP_477352.3:p.(Arg235Cys)	NC_000022.10:g.21174015G>A	VUS	1 lab	c5f537802a
16:11485538 MISSING G>C	16	11485538	11485538	G	C	MISSING				NC_000016.9:g.11485538G>C	VUS	1 lab	c64d271580
15:49048360 CEP152 T>C	15	49048360	49048360	T	C	CEP152	c.3085A>G	NM_001194998.2	NP_001181927.1:p.(Met1029Val)	NC_000015.9:g.49048360T>C	(Likely) benign	1 lab	c5f6a04382
7:94248189 SGCE T>TC	7	94248189	94248191	T	TC	SGCE	c.542dup	NM_003919.3	NP_003910.1:p.(Asp182ArgfsTer35)	NC_000007.13:g.94248191dup	(Likely) pathogenic	1 lab	2aa837c70a
3:93603730 PROS1 C>T	3	93603730	93603730	C	T	PROS1	c.1334G>A	NM_000313.4	NP_000304.2:p.(Arg445His)	NC_000003.11:g.93603730C>T	VUS	1 lab	c5f8767b1a
17:73485707 TMEM94 G>A	17	73485707	73485707	G	A	TMEM94	c.918G>A	NM_014738.6	NP_055553.3:p.(Gly306=)	NC_000017.10:g.73485707G>A	(Likely) benign	1 lab	c5f8c041ed
4:25314532 ZCCHC4 C>G	4	25314532	25314532	C	G	ZCCHC4	c.101C>G	NM_024936.3	NP_079212.2:p.(Ala34Gly)	NC_000004.11:g.25314532C>G	VUS	1 lab	c5fa916e46
17:73946966 ACOX1 C>G	17	73946966	73946966	C	G	ACOX1	c.1187G>C	NM_004035.7	NP_004026.2:p.(Cys396Ser)	NC_000017.10:g.73946966C>G	VUS	1 lab	2aaf081599
21:47542220 COL6A2 C>T	21	47542220	47542220	C	T	COL6A2	c.1572+148C>T	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47542220C>T	(Likely) benign	1 lab	2ca5404e04
22:19754295 TBX1 G>A	22	19754295	19754295	G	A	TBX1	c.1420G>A	NM_001379200.1	NP_001366129.1:p.(Ala474Thr)	NC_000022.10:g.19754295G>A	(Likely) benign	1 lab	c5fe9c2b66
19:15288635 NOTCH3 G>A	19	15288635	15288635	G	A	NOTCH3	c.4104C>T	NM_000435.3	NP_000426.2:p.(Thr1368=)	NC_000019.9:g.15288635G>A	(Likely) benign	1 lab	c600e23fa2
1:197072314 ASPM C>A	1	197072314	197072314	C	A	ASPM	c.6067G>T	NM_018136.5	NP_060606.3:p.(Ala2023Ser)	NC_000001.10:g.197072314C>A	VUS	1 lab	c60111cdc5
15:43818232 MAP1A A>G	15	43818232	43818232	A	G	MAP1A	c.4561A>G	NM_002373.6	NP_002364.5:p.(Arg1521Gly)	NC_000015.9:g.43818232A>G	(Likely) benign	1 lab	c603224020
5:37002764 NIPBL GTGA>G	5	37002764	37002776	GTGA	G	NIPBL	c.3675_3677del	NM_133433.4	NP_597677.2:p.(Asp1225del)	NC_000005.9:g.37002774_37002776del	(Likely) benign	1 lab	c60425d43d
9:140611521 EHMT1 G>C	9	140611521	140611521	G	C	EHMT1	c.529G>C	NM_024757.5	NP_079033.4:p.(Ala177Pro)	NC_000009.11:g.140611521G>C	VUS	1 lab	c6047077f0
14:95912426 SYNE3 T>C	14	95912426	95912426	T	C	SYNE3	c.1452A>G	NM_152592.6	NP_689805.3:p.(Ala484=)	NC_000014.8:g.95912426T>C	(Likely) benign	1 lab	c605940923
6:33419628 SYNGAP1 C>A	6	33419628	33419628	C	A	SYNGAP1	c.3977C>A	NM_006772.3	NP_006763.2:p.(Pro1326Gln)	NC_000006.11:g.33419628C>A	VUS	1 lab	2ab05bbbef
19:33954907 PEPD C>T	19	33954907	33954907	C	T	PEPD	c.610G>A	NM_000285.4	NP_000276.2:p.(Glu204Lys)	NC_000019.9:g.33954907C>T	VUS	1 lab	c6125f02ad
7:98547353 TRRAP G>A	7	98547353	98547353	G	A	TRRAP	c.5024G>A	NM_001375524.1	NP_001362453.1:p.(Arg1675Gln)	NC_000007.13:g.98547353G>A	(Likely) benign	1 lab	c6079d66fb
11:68703755 IGHMBP2 C>G	11	68703755	68703755	C	G	IGHMBP2	c.1807C>G	NM_002180.3	NP_002171.2:p.(Arg603Gly)	NC_000011.9:g.68703755C>G	VUS	1 lab	c608e276f0
2:152475977 NEB G>T	2	152475977	152475977	G	T	NEB	c.10860C>A	NM_001164508.2	NP_001157980.2:p.(Asp3620Glu)	NC_000002.11:g.152475977G>T	VUS	1 lab	c609201b3b
17:62028939 SCN4A C>T	17	62028939	62028939	C	T	SCN4A	c.2698G>A	NM_000334.4	NP_000325.4:p.(Ala900Thr)	NC_000017.10:g.62028939C>T	(Likely) benign	1 lab	c60a1f8fb2
3:47163583 SETD2 G>A	3	47163583	47163583	G	A	SETD2	c.2543C>T	NM_014159.7	NP_054878.5:p.(Ala848Val)	NC_000003.11:g.47163583G>A	(Likely) benign	1 lab	c60a696b97
4:128743972 HSPA4L A>G	4	128743972	128743972	A	G	HSPA4L	c.1861A>G	NM_014278.4	NP_055093.2:p.(Lys621Glu)	NC_000004.11:g.128743972A>G	VUS	1 lab	c60b3a9873
2:176957644 HOXD13 T>G	2	176957644	176957644	T	G	HOXD13	c.26T>G	NM_000523.4	NP_000514.2:p.(Met9Arg)	NC_000002.11:g.176957644T>G	VUS	1 lab	c60d79b4e6
5:13781043 DNAH5 TGAG>T	5	13781043	13781049	TGAG	T	DNAH5	c.8843_8845del	NM_001369.3	NP_001360.1:p.(Pro2948del)	NC_000005.9:g.13781047_13781049del	VUS	1 lab	c60e8d7f4e
13:20600785 ZMYM2 C>T	13	20600785	20600785	C	T	ZMYM2	c.1618C>T	NM_197968.4	NP_932072.1:p.(Arg540Ter)	NC_000013.10:g.20600785C>T	(Likely) pathogenic	1 lab	c611e9ac6a
X:105178340 NRK T>C	X	105178340	105178340	T	C	NRK	c.3403T>C	NM_198465.4	NP_940867.2:p.(Ser1135Pro)	NC_000023.10:g.105178340T>C	VUS	1 lab	c611ece198
1:160100295 ATP1A2 A>G	1	160100295	160100295	A	G	ATP1A2	c.1735A>G	NM_000702.4	NP_000693.1:p.(Lys579Glu)	NC_000001.10:g.160100295A>G	(Likely) benign	1 lab	c6126f7965
X:3229199 MXRA5 G>A	X	3229199	3229199	G	A	MXRA5	c.7045C>T	NM_015419.4	NP_056234.2:p.(Arg2349Trp)	NC_000023.10:g.3229199G>A	VUS	1 lab	c6139cac0c
7:107706995 LAMB4 T>C	7	107706995	107706995	T	C	LAMB4	c.2497A>G	NM_007356.3	NP_031382.2:p.(Thr833Ala)	NC_000007.13:g.107706995T>C	VUS	1 lab	c6148f1a6f
9:33467729 NOL6 C>T	9	33467729	33467729	C	T	NOL6	c.1562G>A	NM_022917.5	NP_075068.2:p.(Arg521Gln)	NC_000009.11:g.33467729C>T	(Likely) benign	1 lab	c6149857f0
1:205116802 DSTYK C>A	1	205116802	205116802	C	A	DSTYK	c.2674G>T	NM_015375.3	NP_056190.1:p.(Asp892Tyr)	NC_000001.10:g.205116802C>A	VUS	1 lab	c6154e08f3
3:195798957 TFRC C>A	3	195798957	195798957	C	A	TFRC	c.501G>T	NM_001128148.3	NP_001121620.1:p.(Leu167Phe)	NC_000003.11:g.195798957C>A	(Likely) benign	1 lab	c615d40b73
19:17985479 SLC5A5 G>A	19	17985479	17985479	G	A	SLC5A5	c.482G>A	NM_000453.3	NP_000444.1:p.(Gly161Glu)	NC_000019.9:g.17985479G>A	VUS	1 lab	c616c457ec
4:123274055 BLTP1 G>C	4	123274055	123274055	G	C	BLTP1	c.14114-4G>C	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123274055G>C	(Likely) benign	1 lab	c61727478e
6:57061300 RAB23 T>C	6	57061300	57061300	T	C	RAB23	c.346A>G	NM_016277.5	NP_057361.3:p.(Thr116Ala)	NC_000006.11:g.57061300T>C	VUS	1 lab	c6172dd173
7:44185201 GCK G>T	7	44185201	44185201	G	T	GCK	c.1148C>A	NM_000162.5	NP_000153.1:p.(Ser383Ter)	NC_000007.13:g.44185201G>T	(Likely) pathogenic	1 lab	c61912b7c1
2:170062591 LRP2 G>A	2	170062591	170062591	G	A	LRP2	c.7498C>T	NM_004525.3	NP_004516.2:p.(Arg2500Cys)	NC_000002.11:g.170062591G>A	VUS	1 lab	c619e49ec2
X:107829894 COL4A5 TTGGGTTGCC>T	X	107829894	107829915	TTGGGTTGCC	T	COL4A5	c.1095_1103del	NM_033380.3	NP_203699.1:p.(Leu366_Gly368del)	NC_000023.10:g.107829907_107829915del	(Likely) benign	1 lab	c61bee7af1
7:158482630 NCAPG2 G>A	7	158482630	158482630	G	A	NCAPG2	c.553C>T	NM_017760.7	NP_060230.5:p.(Arg185Trp)	NC_000007.13:g.158482630G>A	VUS	1 lab	c61c8b032d
2:54028956 ERLEC1 G>A	2	54028956	54028956	G	A	ERLEC1	c.856G>A	NM_015701.5	NP_056516.2:p.(Val286Met)	NC_000002.11:g.54028956G>A	(Likely) benign	1 lab	c61cbf4be9
9:27206763 TEK A>G	9	27206763	27206763	A	G	TEK	c.2548A>G	NM_000459.5	NP_000450.3:p.(Met850Val)	NC_000009.11:g.27206763A>G	VUS	1 lab	c61cf402e9
1:10490625 CENPS G>C	1	10490625	10490625	G	C	CENPS	c.51G>C	NM_199294.3	NP_954988.1:p.(Gln17His)	NC_000001.10:g.10490625G>C	(Likely) benign	1 lab	c61d7a3bf9
11:17418466 ABCC8 C>T	11	17418466	17418466	C	T	ABCC8	c.4116G>A	NM_000352.6	NP_000343.2:p.(Gln1372=)	NC_000011.9:g.17418466C>T	VUS	1 lab	c61e7d6f2b
19:39412200 SARS2 C>T	19	39412200	39412200	C	T	SARS2	c.501G>A	NM_017827.4	NP_060297.1:p.(Ala167=)	NC_000019.9:g.39412200C>T	(Likely) benign	1 lab	2cac36ba92
X:27766370 DCAF8L2 A>G	X	27766370	27766370	A	G	DCAF8L2	c.1358A>G	NM_001353450.2	NP_001340379.1:p.(His453Arg)	NC_000023.10:g.27766370A>G	(Likely) benign	1 lab	c6225224d4
X:54521813 FGD1 G>C	X	54521813	54521813	G	C	FGD1	c.53C>G	NM_004463.3	NP_004454.2:p.(Pro18Arg)	NC_000023.10:g.54521813G>C	VUS	1 lab	c627138cfc
6:129499023 LAMA2 A>G	6	129499023	129499023	A	G	LAMA2	c.1467+12A>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129499023A>G	(Likely) benign	1 lab	c627b4a97e
17:41836009 SOST G>A	17	41836009	41836009	G	A	SOST	c.101C>T	NM_025237.3	NP_079513.1:p.(Thr34Met)	NC_000017.10:g.41836009G>A	VUS	1 lab	c6284babeb
X:102192458 RAB40AL C>T	X	102192458	102192458	C	T	RAB40AL	c.212C>T	NM_001031834.1	NP_001027004.1:p.(Ser71Leu)	NC_000023.10:g.102192458C>T	VUS	1 lab	c628b8f9b7
8:17827193 PCM1 A>G	8	17827193	17827193	A	G	PCM1	c.3520A>G	NM_006197.4	NP_006188.4:p.(Thr1174Ala)	NC_000008.10:g.17827193A>G	(Likely) benign	1 lab	2cad35442c
6:117252498 RFX6 C>T	6	117252498	117252498	C	T	RFX6	c.2616C>T	NM_173560.4	NP_775831.2:p.(Ser872=)	NC_000006.11:g.117252498C>T	(Likely) benign	1 lab	c62a6953be
2:169826592 ABCB11 T>C	2	169826592	169826592	T	C	ABCB11	c.1772A>G	NM_003742.4	NP_003733.2:p.(Asn591Ser)	NC_000002.11:g.169826592T>C	(Likely) benign	1 lab	c62b88983f
15:90628537 IDH2 G>A	15	90628537	90628537	G	A	IDH2	c.1050C>T	NM_002168.4	NP_002159.2:p.(Thr350=)	NC_000015.9:g.90628537G>A	(Likely) benign	1 lab	c62c03384c
15:34094101 RYR3 T>C	15	34094101	34094101	T	C	RYR3	c.9950T>C	NM_001036.6	NP_001027.3:p.(Ile3317Thr)	NC_000015.9:g.34094101T>C	(Likely) benign	1 lab	c62c75162e
11:17417496 ABCC8 G>A	11	17417496	17417496	G	A	ABCC8	c.4120-19C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17417496G>A	(Likely) benign	1 lab	c62cc46382
17:78247103 RNF213 A>C	17	78247103	78247103	A	C	RNF213	c.161A>C	NM_001256071.3	NP_001243000.2:p.(Glu54Ala)	NC_000017.10:g.78247103A>C	(Likely) benign	1 lab	c62e989651
11:70644585 SHANK2 C>G	11	70644585	70644585	C	G	SHANK2	c.1740G>C	NM_012309.5	NP_036441.2:p.(Val580=)	NC_000011.9:g.70644585C>G	VUS	1 lab	c62f83ead6
17:3563556 CTNS C>A	17	3563556	3563556	C	A	CTNS	c.997C>A	NM_004937.3	NP_004928.2:p.(Pro333Thr)	NC_000017.10:g.3563556C>A	VUS	1 lab	c6302ff0c7
22:50639806 SELENOO GCGAGGC>G	22	50639806	50639826	GCGAGGC	G	SELENOO	c.356_361del	NM_031454.2	NP_113642.1:p.?	NC_000022.10:g.50639821_50639826del	VUS	1 lab	c6307f505f
20:60928304 LAMA5 A>G	20	60928304	60928304	A	G	LAMA5	c.454T>C	NM_005560.6	NP_005551.3:p.(Phe152Leu)	NC_000020.10:g.60928304A>G	VUS	1 lab	c63085f620
1:65139130 CACHD1 T>C	1	65139130	65139130	T	C	CACHD1	c.2710T>C	NM_020925.4	NP_065976.3:p.(Phe904Leu)	NC_000001.10:g.65139130T>C	(Likely) benign	1 lab	c63141dd5e
8:22067154 BMP1 CT>C	8	22067154	22067156	CT	C	BMP1	c.2774del	NM_006129.5	NP_006120.1:p.(Phe925SerfsTer32)	NC_000008.10:g.22067156del	(Likely) pathogenic	1 lab	c631c7deea
X:3030576 ARSF GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTTT>G	X	3030576	3030664	GGGTCCTAACGAGAAGAGATAATTACAATCAGGCTACCAGAGGAAGCCTTT	G	ARSF	c.*18_*67del	NM_001201539.2	NP_001188468.1:p.?	NC_000023.10:g.3030615_3030664del	VUS	1 lab	c632258067
5:36211949 NADK2 G>C	5	36211949	36211949	G	C	NADK2	c.857C>G	NM_001085411.3	NP_001078880.1:p.(Ser286Cys)	NC_000005.9:g.36211949G>C	VUS	1 lab	c6330c9326
1:1458205 ATAD3A C>T	1	1458205	1458205	C	T	ATAD3A	c.832C>T	NM_001170535.3	NP_001164006.1:p.(Arg278Trp)	NC_000001.10:g.1458205C>T	VUS	1 lab	c635bf21c3
X:19364612 PDHA1 A>AT	X	19364612	19364622	A	AT	PDHA1	c.57+2410dup	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19364622dup	(Likely) benign	1 lab	c6362ac55c
1:27099311 ARID1A A>T	1	27099311	27099311	A	T	ARID1A	c.3548A>T	NM_006015.6	NP_006006.3:p.(Asn1183Ile)	NC_000001.10:g.27099311A>T	VUS	1 lab	c63655d34d
2:48059997 FBXO11 G>A	2	48059997	48059997	G	A	FBXO11	c.1064C>T	NM_001190274.2	NP_001177203.1:p.(Ala355Val)	NC_000002.11:g.48059997G>A	VUS	1 lab	c6376cf3ea
3:58117710 FLNB T>C	3	58117710	58117710	T	C	FLNB	c.4391-825T>C	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58117710T>C	(Likely) benign	1 lab	c638b0e1d0
18:72347501 ZNF407 A>G	18	72347501	72347501	A	G	ZNF407	c.4526A>G	NM_017757.3	NP_060227.2:p.(His1509Arg)	NC_000018.9:g.72347501A>G	VUS	1 lab	2ab179858c
2:74329185 TET3 AAGAG>A	2	74329185	74329190	AAGAG	A	TET3	c.5272_5275del	NM_001287491.2	NP_001274420.1:p.(Glu1758ArgfsTer95)	NC_000002.11:g.74329187_74329190del	VUS	1 lab	c63bd7cd1d
13:28623587 FLT3 C>T	13	28623587	28623587	C	T	FLT3	c.970G>A	NM_004119.3	NP_004110.2:p.(Asp324Asn)	NC_000013.10:g.28623587C>T	(Likely) benign	1 lab	c63c14fa60
4:4455360 STX18 C>T	4	4455360	4455360	C	T	STX18	c.497+3558G>A	NM_016930.4	NP_058626.1:p.?	NC_000004.11:g.4455360C>T	(Likely) benign	1 lab	c63cc0cde7
10:73594251 PSAP G>C	10	73594251	73594251	G	C	PSAP	c.52C>G	NM_002778.4	NP_002769.1:p.(Pro18Ala)	NC_000010.10:g.73594251G>C	(Likely) benign	1 lab	c63cdc821b
X:75649404 MAGEE1 G>A	X	75649404	75649404	G	A	MAGEE1	c.1081G>A	NM_020932.3	NP_065983.1:p.(Gly361Ser)	NC_000023.10:g.75649404G>A	(Likely) benign	1 lab	c641ef7527
22:39909726 MIEF1 G>A	22	39909726	39909726	G	A	MIEF1	c.790G>A	NM_019008.6	NP_061881.2:p.(Asp264Asn)	NC_000022.10:g.39909726G>A	(Likely) benign	1 lab	c643988fba
3:93629525 PROS1 C>T	3	93629525	93629525	C	T	PROS1	c.284G>A	NM_000313.4	NP_000304.2:p.(Gly95Glu)	NC_000003.11:g.93629525C>T	VUS	1 lab	c6439d763a
11:694949 DEAF1 TGCCGCGGCCGCGGCCGCCGCCGCCACAGCG>T	11	694949	694990	TGCCGCGGCCGCGGCCGCCGCCGCCACAGCG	T	DEAF1	c.69_98del	NM_021008.4	NP_066288.2:p.(Ala24_Ala33del)	NC_000011.9:g.694961_694990del	(Likely) benign	1 lab	2ab4be8cdf
X:129185987 BCORL1 C>T	X	129185987	129185987	C	T	BCORL1	c.4849C>T	NM_021946.5	NP_068765.3:p.(Arg1617Cys)	NC_000023.10:g.129185987C>T	VUS	1 lab	2ab5ae8302
3:48789648 PRKAR2A C>T	3	48789648	48789648	C	T	PRKAR2A	c.1042G>A	NM_004157.4	NP_004148.1:p.(Ala348Thr)	NC_000003.11:g.48789648C>T	VUS	1 lab	c6448ce48e
16:138755 NPRL3 C>T	16	138755	138755	C	T	NPRL3	c.1486G>A	NM_001077350.3	NP_001070818.1:p.(Ala496Thr)	NC_000016.9:g.138755C>T	(Likely) benign	1 lab	c6472a5f80
12:56487684 ERBB3 C>T	12	56487684	56487684	C	T	ERBB3	c.1613+4C>T	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56487684C>T	VUS	1 lab	c647330019
1:228353832 IBA57 GA>G	1	228353832	228353833	GA	G	IBA57	c.316del	NM_001010867.4	NP_001010867.1:p.(Thr106ArgfsTer145)	NC_000001.10:g.228353833del	(Likely) pathogenic	1 lab	c64756136e
20:23618460 CST3 T>C	20	23618460	23618460	T	C	CST3	c.40A>G	NM_000099.4	NP_000090.1:p.(Ile14Val)	NC_000020.10:g.23618460T>C	(Likely) benign	1 lab	c6488a30ed
1:27099100 ARID1A G>T	1	27099100	27099100	G	T	ARID1A	c.3516G>T	NM_006015.6	NP_006006.3:p.(Gln1172His)	NC_000001.10:g.27099100G>T	(Likely) benign	1 lab	c64aa76778
1:24175151 FUCA1 G>A	1	24175151	24175151	G	A	FUCA1	c.1148C>T	NM_000147.5	NP_000138.2:p.(Thr383Ile)	NC_000001.10:g.24175151G>A	(Likely) benign	1 lab	c64acf9354
4:5690898 EVC2 T>C	4	5690898	5690898	T	C	EVC2	c.692A>G	NM_147127.5	NP_667338.3:p.(Lys231Arg)	NC_000004.11:g.5690898T>C	VUS	1 lab	c66b0ab8da
1:224621786 WDR26 C>T	1	224621786	224621786	C	T	WDR26	c.322G>A	NM_001379403.1	NP_001366332.1:p.(Gly108Arg)	NC_000001.10:g.224621786C>T	VUS	1 lab	c64d259b62
19:1244112 ATP5F1D C>T	19	1244112	1244112	C	T	ATP5F1D	c.312C>T	NM_001687.5	NP_001678.1:p.(Ile104=)	NC_000019.9:g.1244112C>T	(Likely) benign	1 lab	c64ddaa476
7:128829039 SMO GGCT>G	7	128829039	128829061	GGCT	G	SMO	c.67_69del	NM_005631.5	NP_005622.1:p.(Leu23del)	NC_000007.13:g.128829059_128829061del	VUS	1 lab	c64ef103a0
6:109481776 CEP57L1 G>A	6	109481776	109481776	G	A	CEP57L1	c.1018G>A	NM_001271852.3	NP_001258781.1:p.(Glu340Lys)	NC_000006.11:g.109481776G>A	(Likely) benign	1 lab	c650e83eb5
11:118967888 DPAGT1 A>C	11	118967888	118967888	A	C	DPAGT1	c.1125T>G	NM_001382.4	NP_001373.2:p.(His375Gln)	NC_000011.9:g.118967888A>C	VUS	1 lab	c65147f67c
15:34078057 RYR3 C>A	15	34078057	34078057	C	A	RYR3	c.9463C>A	NM_001036.6	NP_001027.3:p.(Pro3155Thr)	NC_000015.9:g.34078057C>A	VUS	1 lab	c65233f38f
16:2149984 PKD1 C>T	16	2149984	2149984	C	T	PKD1	c.9801G>A	NM_001009944.3	NP_001009944.3:p.(Trp3267Ter)	NC_000016.9:g.2149984C>T	(Likely) pathogenic	1 lab	c652ada5c7
3:52438516 BAP1 ATA>CTC	3	52438516	52438518	ATA	CTC	BAP1	c.1201_1203delinsGAG	NM_004656.4	NP_004647.1:p.(Tyr401Glu)	NC_000003.11:g.52438516_52438518delinsCTC	VUS	1 lab	c65441d6b6
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer48)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	c6563c5bca
11:102822734 MMP13 G>A	11	102822734	102822734	G	A	MMP13	c.799+7C>T	NM_002427.4	NP_002418.1:p.?	NC_000011.9:g.102822734G>A	(Likely) benign	1 lab	c657e7c9ab
19:5696330 LONP1 T>C	19	5696330	5696330	T	C	LONP1	c.1826A>G	NM_004793.4	NP_004784.2:p.(Glu609Gly)	NC_000019.9:g.5696330T>C	VUS	1 lab	c6581af429
16:30770380 PHKG2 G>A	16	30770380	30770380	G	A	PHKG2	c.*1962G>A	NM_000294.3	NP_000285.1:p.?	NC_000016.9:g.30770380G>A	VUS	1 lab	c659dc0467
2:179511815 TTN T>C	2	179511815	179511815	T	C	TTN	c.40198A>G	NM_001267550.2	NP_001254479.2:p.(Arg13400Gly)	NC_000002.11:g.179511815T>C	VUS	1 lab	c65b54d01e
17:59557487 TBX4 G>A	17	59557487	59557487	G	A	TBX4	c.828G>A	NM_001321120.2	NP_001308049.1:p.(Arg276=)	NC_000017.10:g.59557487G>A	VUS	1 lab	c65bef8123
19:15281331 NOTCH3 G>C	19	15281331	15281331	G	C	NOTCH3	c.4925C>G	NM_000435.3	NP_000426.2:p.(Pro1642Arg)	NC_000019.9:g.15281331G>C	(Likely) benign	1 lab	c65f9b6166
18:21136368 NPC1 G>A	18	21136368	21136368	G	A	NPC1	c.1165C>T	NM_000271.5	NP_000262.2:p.(Arg389Cys)	NC_000018.9:g.21136368G>A	VUS	1 lab	c66223f2cb
22:51159537 SHANK3 C>T	22	51159537	51159537	C	T	SHANK3	c.3501C>T	NM_001372044.2	NP_001358973.1:p.(Thr1167=)	NC_000022.10:g.51159537C>T	(Likely) benign	1 lab	c6636ec43f
5:13886223 DNAH5 C>A	5	13886223	13886223	C	A	DNAH5	c.2593G>T	NM_001369.3	NP_001360.1:p.(Gly865Cys)	NC_000005.9:g.13886223C>A	(Likely) benign	1 lab	c6637de155
19:46318065 RSPH6A G>A	19	46318065	46318065	G	A	RSPH6A	c.370C>T	NM_030785.4	NP_110412.1:p.(Gln124Ter)	NC_000019.9:g.46318065G>A	VUS	1 lab	c66432ecc3
16:1816913 MAPK8IP3 A>G	16	1816913	1816913	A	G	MAPK8IP3	c.3029A>G	NM_001318852.2	NP_001305781.1:p.(Lys1010Arg)	NC_000016.9:g.1816913A>G	VUS	1 lab	2abc5b90dc
4:185681552 ACSL1 C>T	4	185681552	185681552	C	T	ACSL1	c.1741G>A	NM_001995.5	NP_001986.2:p.(Glu581Lys)	NC_000004.11:g.185681552C>T	(Likely) benign	1 lab	c6653390c8
17:65959761 BPTF TTC>T	17	65959761	65959766	TTC	T	BPTF	c.8262-563_8262-562del	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65959765_65959766del	(Likely) benign	1 lab	c665c04905
14:92482091 TRIP11 ATTC>A	14	92482091	92482098	ATTC	A	TRIP11	c.769_771del	NM_004239.4	NP_004230.2:p.(Glu257del)	NC_000014.8:g.92482096_92482098del	VUS	1 lab	c666dbb72c
X:47919035 ZNF630 T>TTTCCCACACATACTTTCCCACACATACTCCCAC	X	47919035	47919036	T	TTTCCCACACATACTTTCCCACACATACTCCCAC	ZNF630	c.795_796insGTGGGAGTATGTGTGGGAAAGTATGTGTGGGAA	NM_001282201.2	NP_001269130.1:p.(Cys265_Ser266insValGlyValCysValGlyLysTyrValTrpGlu)	NC_000023.10:g.47919035_47919036insTTCCCACACATACTTTCCCACACATACTCCCAC	VUS	1 lab	c668338b52
5:126154642 LMNB1 A>C	5	126154642	126154642	A	C	LMNB1	c.968A>C	NM_005573.4	NP_005564.1:p.(Glu323Ala)	NC_000005.9:g.126154642A>C	VUS	1 lab	c668c0216f
7:127973380 RBM28 G>A	7	127973380	127973380	G	A	RBM28	c.983C>T	NM_018077.3	NP_060547.2:p.(Pro328Leu)	NC_000007.13:g.127973380G>A	VUS	1 lab	c66938402b
6:109766147 MICAL1 A>G	6	109766147	109766147	A	G	MICAL1	c.2933T>C	NM_022765.4	NP_073602.3:p.(Val978Ala)	NC_000006.11:g.109766147A>G	VUS	1 lab	c66a281c73
7:75611574 POR A>G	7	75611574	75611574	A	G	POR	c.764A>G	NM_000941.3	NP_000932.3:p.(Asp255Gly)	NC_000007.13:g.75611574A>G	VUS	1 lab	c66b544c03
X:118986746 UPF3B G>A	X	118986746	118986746	G	A	UPF3B	c.146C>T	NM_080632.3	NP_542199.1:p.(Ala49Val)	NC_000023.10:g.118986746G>A	(Likely) benign	1 lab	c66bc6a8fb
17:55822387 CCDC182 T>C	17	55822387	55822387	T	C	CCDC182	c.247A>G	NM_001282544.2	NP_001269473.1:p.(Met83Val)	NC_000017.10:g.55822387T>C	VUS	1 lab	c66c0c8799
4:156863470 CTSO A>G	4	156863470	156863470	A	G	CTSO	c.383T>C	NM_001334.3	NP_001325.1:p.(Met128Thr)	NC_000004.11:g.156863470A>G	(Likely) benign	1 lab	c66c8799a6
1:240351542 FMN2 C>T	1	240351542	240351542	C	T	FMN2	c.1966C>T	NM_020066.5	NP_064450.3:p.(Arg656Cys)	NC_000001.10:g.240351542C>T	VUS	1 lab	c66d0b0dc2
15:65678324 IGDCC4 G>T	15	65678324	65678324	G	T	IGDCC4	c.3025C>A	NM_020962.3	NP_066013.1:p.(Pro1009Thr)	NC_000015.9:g.65678324G>T	(Likely) benign	1 lab	c66d5f480a
19:55871223 GARIN5B C>T	19	55871223	55871223	C	T	GARIN5B	c.1013G>A	NM_001145402.2	NP_001138874.1:p.(Cys338Tyr)	NC_000019.9:g.55871223C>T	(Likely) benign	1 lab	c66d80e61f
9:94486563 ROR2 C>T	9	94486563	94486563	C	T	ROR2	c.2213G>A	NM_004560.4	NP_004551.2:p.(Arg738His)	NC_000009.11:g.94486563C>T	VUS	1 lab	c66f4e9ecf
10:104263931 SUFU GGCGCCCCCGGCCCCACC>G	10	104263931	104263962	GGCGCCCCCGGCCCCACC	G	SUFU	c.37_53del	NM_016169.4	NP_057253.2:p.(Thr13TrpfsTer29)	NC_000010.10:g.104263946_104263962del	(Likely) pathogenic	1 lab	c66f578e79
1:101377763 SLC30A7 A>C	1	101377763	101377763	A	C	SLC30A7	c.480A>C	NM_133496.5	NP_598003.2:p.(Lys160Asn)	NC_000001.10:g.101377763A>C	VUS	1 lab	c67062446a
3:52442559 BAP1 G>A	3	52442559	52442559	G	A	BAP1	c.186C>T	NM_004656.4	NP_004647.1:p.(Val62=)	NC_000003.11:g.52442559G>A	VUS	1 lab	c670cd20d7
1:43223462 P3H1 G>T	1	43223462	43223462	G	T	P3H1	c.1072C>A	NM_022356.4	NP_071751.3:p.(Pro358Thr)	NC_000001.10:g.43223462G>T	VUS	1 lab	c6712deab7
19:1047507 ABCA7 AGGAGCAG>A	19	1047507	1047516	AGGAGCAG	A	ABCA7	c.2126_2132del	NM_019112.4	NP_061985.2:p.(Glu709AlafsTer86)	NC_000019.9:g.1047510_1047516del	(Likely) benign	1 lab	c672b6d54f
2:73613055 ALMS1 AG>A	2	73613055	73613057	AG	A	ALMS1	c.61del	NM_001378454.1	NP_001365383.1:p.(Glu21ArgfsTer20)	NC_000002.11:g.73613057del	(Likely) benign	1 lab	c672c307a6
5:176700219 NSD1 TTGTC>T	5	176700219	176700224	TTGTC	T	NSD1	c.5510-452_5510-449del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176700221_176700224del	(Likely) benign	1 lab	c6731311ac
8:145003653 PLEC C>T	8	145003653	145003653	C	T	PLEC	c.3010G>A	NM_201384.3	NP_958786.1:p.(Val1004Met)	NC_000008.10:g.145003653C>T	VUS	1 lab	c673a5a9a9
17:60627309 TLK2 G>A	17	60627309	60627309	G	A	TLK2	c.532-2354G>A	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60627309G>A	(Likely) benign	1 lab	c67412100a
13:77831927 MYCBP2 C>G	13	77831927	77831927	C	G	MYCBP2	c.2055G>C	NM_015057.5	NP_055872.4:p.(Gln685His)	NC_000013.10:g.77831927C>G	(Likely) benign	1 lab	c67611d00d
5:86675646 RASA1 T>C	5	86675646	86675646	T	C	RASA1	c.2582T>C	NM_002890.3	NP_002881.1:p.(Met861Thr)	NC_000005.9:g.86675646T>C	(Likely) benign	1 lab	c67666ce1c
8:68028142 CSPP1 A>T	8	68028142	68028142	A	T	CSPP1	c.1288-7A>T	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.68028142A>T	(Likely) benign	1 lab	c678ff926b
6:85472252 TBX18 T>C	6	85472252	85472252	T	C	TBX18	c.497+10A>G	NM_001080508.3	NP_001073977.1:p.?	NC_000006.11:g.85472252T>C	(Likely) benign	1 lab	c67a3b9fe1
6:170591743 DLL1 C>T	6	170591743	170591743	C	T	DLL1	c.*219G>A	NM_005618.4	NP_005609.3:p.?	NC_000006.11:g.170591743C>T	VUS	1 lab	c67a6c2167
3:4842119 ITPR1 G>C	3	4842119	4842119	G	C	ITPR1	c.6942G>C	NM_001378452.1	NP_001365381.1:p.(Glu2314Asp)	NC_000003.11:g.4842119G>C	VUS	1 lab	c67afef274
3:184070302 CLCN2 C>T	3	184070302	184070302	C	T	CLCN2	c.2218-18G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070302C>T	(Likely) benign	1 lab	c67b8baf3e
7:31009565 GHRHR C>A	7	31009565	31009565	C	A	GHRHR	c.352C>A	NM_000823.4	NP_000814.2:p.(Leu118Met)	NC_000007.13:g.31009565C>A	VUS	1 lab	c67cbd3f2d
6:10877559 GCM2 C>T	6	10877559	10877559	C	T	GCM2	c.157G>A	NM_004752.4	NP_004743.1:p.(Asp53Asn)	NC_000006.11:g.10877559C>T	(Likely) benign	1 lab	c67d710a37
16:70285400 EXOSC6 C>G	16	70285400	70285400	C	G	EXOSC6	c.404G>C	NM_058219.3	NP_478126.1:p.(Arg135Pro)	NC_000016.9:g.70285400C>G	VUS	1 lab	c6800a354a
13:111567277 ANKRD10 G>C	13	111567277	111567277	G	C	ANKRD10	c.5C>G	NM_017664.4	NP_060134.2:p.(Ser2Trp)	NC_000013.10:g.111567277G>C	VUS	1 lab	c680a6f0fa
16:30727781 SRCAP C>T	16	30727781	30727781	C	T	SRCAP	c.2798C>T	NM_006662.3	NP_006653.2:p.(Thr933Met)	NC_000016.9:g.30727781C>T	(Likely) benign	1 lab	c680ad20ff
18:57147415 CCBE1 T>A	18	57147415	57147415	T	A	CCBE1	c.265+3A>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57147415T>A	VUS	1 lab	c6816979f1
14:68217778 ZFYVE26 A>G	14	68217778	68217778	A	G	ZFYVE26	c.7407T>C	NM_015346.4	NP_056161.2:p.(Asp2469=)	NC_000014.8:g.68217778A>G	(Likely) benign	1 lab	c682eb727a
X:118786959 SEPTIN6 T>A	X	118786959	118786959	T	A	SEPTIN6	c.386A>T	NM_145799.4	NP_665798.1:p.(Tyr129Phe)	NC_000023.10:g.118786959T>A	VUS	1 lab	c682f64204
2:88926741 EIF2AK3 GCA>G	2	88926741	88926743	GCA	G	EIF2AK3	c.50_51del	NM_004836.7	NP_004827.4:p.(Leu17ProfsTer59)	NC_000002.11:g.88926742_88926743del	VUS	1 lab	c683f18680
10:78832972 KCNMA1 T>G	10	78832972	78832972	T	G	KCNMA1	c.1632A>C	NM_001161352.2	NP_001154824.1:p.(Glu544Asp)	NC_000010.10:g.78832972T>G	(Likely) benign	1 lab	c684d7bea9
7:103159970 RELN AAAAG>A	7	103159970	103159976	AAAAG	A	RELN	c.7669-11_7669-8del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103159973_103159976del	(Likely) benign	1 lab	c688be2ec7
11:6568233 DNHD1 G>C	11	6568233	6568233	G	C	DNHD1	c.6064G>C	NM_144666.3	NP_653267.2:p.(Gly2022Arg)	NC_000011.9:g.6568233G>C	(Likely) benign	1 lab	c688dcbd5b
1:237814785 RYR2 C>T	1	237814785	237814785	C	T	RYR2	c.7808C>T	NM_001035.3	NP_001026.2:p.(Ala2603Val)	NC_000001.10:g.237814785C>T	VUS	1 lab	c688e239ce
15:90208988 PLIN1 G>T	15	90208988	90208988	G	T	PLIN1	c.1395C>A	NM_002666.5	NP_002657.3:p.(Pro465=)	NC_000015.9:g.90208988G>T	(Likely) benign	1 lab	c6896f3958
8:22421805 SORBS3 C>A	8	22421805	22421805	C	A	SORBS3	c.685C>A	NM_005775.5	NP_005766.3:p.(Arg229Ser)	NC_000008.10:g.22421805C>A	VUS	1 lab	c68a71bb01
19:18902043 COMP G>A	19	18902043	18902043	G	A	COMP	c.36C>T	NM_000095.3	NP_000086.2:p.(Thr12=)	NC_000019.9:g.18902043G>A	(Likely) benign	1 lab	c68b37bed5
1:1269432 TAS1R3 C>A	1	1269432	1269432	C	A	TAS1R3	c.2147C>A	NM_152228.3	NP_689414.2:p.(Thr716Lys)	NC_000001.10:g.1269432C>A	(Likely) benign	1 lab	c68ba3c5bc
5:60768550 ZSWIM6 C>T	5	60768550	60768550	C	T	ZSWIM6	c.719C>T	NM_020928.2	NP_065979.1:p.(Ser240Leu)	NC_000005.9:g.60768550C>T	(Likely) benign	1 lab	c68c5c45ba
5:77523970 AP3B1 T>G	5	77523970	77523970	T	G	AP3B1	c.373A>C	NM_003664.5	NP_003655.3:p.(Lys125Gln)	NC_000005.9:g.77523970T>G	VUS	1 lab	c701ac404c
21:34635300 IFNAR2 G>T	21	34635300	34635300	G	T	IFNAR2	c.1043G>T	NM_001289125.3	NP_001276054.1:p.(Gly348Val)	NC_000021.8:g.34635300G>T	(Likely) benign	1 lab	c68d0d2155
16:89836432 FANCA C>A	16	89836432	89836432	C	A	FANCA	c.2317G>T	NM_000135.4	NP_000126.2:p.(Gly773Cys)	NC_000016.9:g.89836432C>A	VUS	1 lab	c68d990fd1
7:96639202 DLX6 C>T	7	96639202	96639202	C	T	DLX6	c.725C>T	NM_005222.4	NP_005213.3:p.(Ala242Val)	NC_000007.13:g.96639202C>T	VUS	1 lab	c68e1d76c4
10:135000000 KNDC1 C>T	10	135000000	135000000	C	T	KNDC1	c.1148C>T	NM_152643.8	NP_689856.6:p.(Thr383Met)	NC_000010.10:g.135000000C>T	VUS	1 lab	c68e7d2c8f
2:33477800 LTBP1 G>A	2	33477800	33477800	G	A	LTBP1	c.2056G>A	NM_206943.4	NP_996826.3:p.(Gly686Arg)	NC_000002.11:g.33477800G>A	VUS	1 lab	c68ecd9337
11:69950264 ANO1 G>A	11	69950264	69950264	G	A	ANO1	c.692+8G>A	NM_018043.7	NP_060513.5:p.?	NC_000011.9:g.69950264G>A	(Likely) benign	1 lab	c68f1cee12
17:17696950 RAI1 G>A	17	17696950	17696950	G	A	RAI1	c.688G>A	NM_030665.4	NP_109590.3:p.(Gly230Arg)	NC_000017.10:g.17696950G>A	(Likely) benign	1 lab	c690bf654f
X:83599251 HDX A>G	X	83599251	83599251	A	G	HDX	c.1660+7T>C	NM_001177479.2	NP_001170950.1:p.?	NC_000023.10:g.83599251A>G	(Likely) benign	1 lab	c691939a06
5:1208964 SLC6A19 T>G	5	1208964	1208964	T	G	SLC6A19	c.306T>G	NM_001003841.3	NP_001003841.1:p.(Gly102=)	NC_000005.9:g.1208964T>G	(Likely) benign	1 lab	2abef54dc8
1:39950267 MACF1 T>G	1	39950267	39950267	T	G	MACF1	c.22282-6T>G	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39950267T>G	(Likely) benign	1 lab	c695ef4ade
7:147815172 CNTNAP2 G>T	7	147815172	147815172	G	T	CNTNAP2	c.2384-38G>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147815172G>T	(Likely) benign	1 lab	2cbf01f9f2
12:133210973 POLE CAT>C	12	133210973	133210975	CAT	C	POLE	c.5812-11_5812-10del	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133210974_133210975del	VUS	1 lab	c696d075c8
15:63926166 HERC1 C>T	15	63926166	63926166	C	T	HERC1	c.12574G>A	NM_003922.4	NP_003913.3:p.(Ala4192Thr)	NC_000015.9:g.63926166C>T	VUS	1 lab	c69717466b
6:31964058 C4B_2 C>T	6	31964058	31964058	C	T	C4B_2	c.3462C>T	NM_001242823.2	NP_001229752.1:p.(Ala1154=)	NC_000006.11:g.31964058C>T	VUS	1 lab	c6971ef793
2:145156478 ZEB2 C>T	2	145156478	145156478	C	T	ZEB2	c.2276G>A	NM_014795.4	NP_055610.1:p.(Arg759Lys)	NC_000002.11:g.145156478C>T	VUS	1 lab	c6981d3732
1:227174287 COQ8A G>A	1	227174287	227174287	G	A	COQ8A	c.1793G>A	NM_020247.5	NP_064632.2:p.(Arg598His)	NC_000001.10:g.227174287G>A	VUS	1 lab	c69b9843fb
10:75276927 USP54 C>G	10	75276927	75276927	C	G	USP54	c.3257G>C	NM_001391956.1	NP_001378885.1:p.(Cys1086Ser)	NC_000010.10:g.75276927C>G	(Likely) benign	1 lab	c69c326b61
16:8906973 PMM2 G>A	16	8906973	8906973	G	A	PMM2	c.639+10G>A	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8906973G>A	(Likely) benign	1 lab	c69d15d1f9
12:2566733 CACNA1C G>A	12	2566733	2566733	G	A	CACNA1C	c.618G>A	NM_000719.7	NP_000710.5:p.(Gly206=)	NC_000012.11:g.2566733G>A	VUS	1 lab	c69d527ac7
15:25653833 UBE3A T>C	15	25653833	25653833	T	C	UBE3A	c.20+402A>G	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25653833T>C	VUS	1 lab	c69e6921ee
22:50660971 TUBGCP6 C>T	22	50660971	50660971	C	T	TUBGCP6	c.2321G>A	NM_020461.4	NP_065194.3:p.(Arg774Gln)	NC_000022.10:g.50660971C>T	(Likely) benign	1 lab	c6a0e9cd7c
17:56770097 RAD51C G>A	17	56770097	56770097	G	A	RAD51C	c.93G>A	NM_058216.3	NP_478123.1:p.(Gly31=)	NC_000017.10:g.56770097G>A	(Likely) benign	1 lab	c6a159f33b
10:71695152 COL13A1 G>C	10	71695152	71695152	G	C	COL13A1	c.1770+5G>C	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71695152G>C	VUS	1 lab	c6a3340335
6:152590434 SYNE1 A>G	6	152590434	152590434	A	G	SYNE1	c.18574-13T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152590434A>G	(Likely) benign	1 lab	2cbff94b20
10:61956328 ANK3 T>C	10	61956328	61956328	T	C	ANK3	c.1745A>G	NM_020987.5	NP_066267.2:p.(Asn582Ser)	NC_000010.10:g.61956328T>C	(Likely) benign	1 lab	c6a55f432b
14:24647331 REC8 G>A	14	24647331	24647331	G	A	REC8	c.899G>A	NM_001048205.2	NP_001041670.1:p.(Arg300His)	NC_000014.8:g.24647331G>A	(Likely) benign	1 lab	c6a7852423
3:15516467 COLQ A>G	3	15516467	15516467	A	G	COLQ	c.529-9T>C	NM_005677.4	NP_005668.2:p.?	NC_000003.11:g.15516467A>G	VUS	1 lab	c6a83e3c93
1:228284970 ARF1 T>G	1	228284970	228284970	T	G	ARF1	c.148+7T>G	NM_001658.4	NP_001649.1:p.?	NC_000001.10:g.228284970T>G	(Likely) benign	1 lab	c6a86d73fa
16:3293708 MEFV T>C	16	3293708	3293708	T	C	MEFV	c.1793-14A>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293708T>C	(Likely) benign	1 lab	2cc0092834
13:25479834 CPAP G>A	13	25479834	25479834	G	A	CPAP	c.2342C>T	NM_018451.5	NP_060921.3:p.(Ser781Leu)	NC_000013.10:g.25479834G>A	(Likely) benign	1 lab	c6a9519bcc
8:144998170 PLEC G>A	8	144998170	144998170	G	A	PLEC	c.5927C>T	NM_201384.3	NP_958786.1:p.(Ala1976Val)	NC_000008.10:g.144998170G>A	VUS	1 lab	c6a98f0599
15:89401665 ACAN C>G	15	89401665	89401665	C	G	ACAN	c.5849C>G	NM_001369268.1	NP_001356197.1:p.(Thr1950Arg)	NC_000015.9:g.89401665C>G	VUS	1 lab	c6a9ecd2cd
1:63052185 DOCK7 G>A	1	63052185	63052185	G	A	DOCK7	c.1793C>T	NM_001367561.1	NP_001354490.1:p.(Ala598Val)	NC_000001.10:g.63052185G>A	VUS	1 lab	c6ab8292e6
18:47818 TUBB8B A>G	18	47818	47818	A	G	TUBB8B	c.907T>C	NM_001358689.2	NP_001345618.1:p.(Cys303Arg)	NC_000018.9:g.47818A>G	(Likely) benign	1 lab	c6acf573e7
4:73179433 ADAMTS3 G>A	4	73179433	73179433	G	A	ADAMTS3	c.1706C>T	NM_014243.3	NP_055058.2:p.(Thr569Ile)	NC_000004.11:g.73179433G>A	(Likely) benign	1 lab	c6afaff873
16:19481059 TMC5 T>A	16	19481059	19481059	T	A	TMC5	c.1694T>A	NM_001261841.2	NP_001248770.1:p.(Ile565Asn)	NC_000016.9:g.19481059T>A	VUS	1 lab	c6b1c271b1
9:140006378 DPP7 G>A	9	140006378	140006378	G	A	DPP7	c.1154C>T	NM_013379.3	NP_037511.2:p.(Thr385Ile)	NC_000009.11:g.140006378G>A	(Likely) benign	1 lab	c6b27055d3
15:42986748 STARD9 C>T	15	42986748	42986748	C	T	STARD9	c.12787C>T	NM_020759.3	NP_065810.2:p.(Leu4263Phe)	NC_000015.9:g.42986748C>T	(Likely) benign	1 lab	c6b2942e79
1:109465068 GPSM2 AG>A	1	109465068	109465071	AG	A	GPSM2	c.1473del	NM_013296.5	NP_037428.3:p.(Phe492SerfsTer5)	NC_000001.10:g.109465071del	(Likely) pathogenic	1 lab	c6b298895f
3:183954452 VWA5B2 C>G	3	183954452	183954452	C	G	VWA5B2	c.1448C>G	NM_001390846.1	NP_001377775.1:p.(Thr483Ser)	NC_000003.11:g.183954452C>G	VUS	1 lab	c6b43c6de7
2:73114602 SPR G>T	2	73114602	73114602	G	T	SPR	c.41G>T	NM_003124.5	NP_003115.1:p.(Gly14Val)	NC_000002.11:g.73114602G>T	VUS	1 lab	c6b4941bd8
7:77762348 MAGI2 A>C	7	77762348	77762348	A	C	MAGI2	c.3061T>G	NM_012301.4	NP_036433.2:p.(Ser1021Ala)	NC_000007.13:g.77762348A>C	VUS	1 lab	c6b4a32be3
16:30750597 SRCAP G>T	16	30750597	30750597	G	T	SRCAP	c.9236G>T	NM_006662.3	NP_006653.2:p.(Arg3079Leu)	NC_000016.9:g.30750597G>T	(Likely) benign	1 lab	c6ba8c3858
2:158634797 ACVR1 G>C	2	158634797	158634797	G	C	ACVR1	c.389C>G	NM_001111067.4	NP_001104537.1:p.(Ser130Cys)	NC_000002.11:g.158634797G>C	(Likely) benign	1 lab	c6baab00a4
3:38739417 SCN10A G>A	3	38739417	38739417	G	A	SCN10A	c.5294C>T	NM_006514.4	NP_006505.4:p.(Ser1765Leu)	NC_000003.11:g.38739417G>A	VUS	1 lab	c6bc263706
9:6553514 GLDC AT>A	9	6553514	6553522	AT	A	GLDC	c.2316-6del	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6553522del	(Likely) benign	1 lab	c6bd97ffb0
7:128610312 TNPO3 C>A	7	128610312	128610312	C	A	TNPO3	c.2488G>T	NM_012470.4	NP_036602.1:p.(Gly830Ter)	NC_000007.13:g.128610312C>A	VUS	1 lab	c6be20b6a5
17:12642554 MYOCD ACT>A	17	12642554	12642557	ACT	A	MYOCD	c.628_629del	NM_001146312.3	NP_001139784.1:p.(Ala211LeufsTer34)	NC_000017.10:g.12642556_12642557del	VUS	1 lab	c6bfaf3dd1
8:22054870 BMP1 C>T	8	22054870	22054870	C	T	BMP1	c.2044C>T	NM_006129.5	NP_006120.1:p.(Arg682Cys)	NC_000008.10:g.22054870C>T	VUS	1 lab	c701b4ac8e
5:61681374 KIF2A C>T	5	61681374	61681374	C	T	KIF2A	c.2213C>T	NM_001098511.3	NP_001091981.1:p.(Pro738Leu)	NC_000005.9:g.61681374C>T	(Likely) benign	1 lab	c6c214892b
1:1423237 ATAD3B T>C	1	1423237	1423237	T	C	ATAD3B	c.1215-6T>C	NM_031921.6	NP_114127.3:p.?	NC_000001.10:g.1423237T>C	(Likely) benign	1 lab	c6c3123745
16:69194373 UTP4 T>A	16	69194373	69194373	T	A	UTP4	c.1551+8T>A	NM_032830.3	NP_116219.2:p.?	NC_000016.9:g.69194373T>A	(Likely) benign	1 lab	c6c56c0543
8:18257877 NAT2 G>A	8	18257877	18257877	G	A	NAT2	c.364G>A	NM_000015.3	NP_000006.2:p.(Asp122Asn)	NC_000008.10:g.18257877G>A	VUS	1 lab	c6c585e86b
17:42928670 EFTUD2 T>C	17	42928670	42928670	T	C	EFTUD2	c.2891A>G	NM_004247.4	NP_004238.3:p.(Gln964Arg)	NC_000017.10:g.42928670T>C	VUS	1 lab	c6c658ed91
17:61683750 TACO1 CA>C	17	61683750	61683751	CA	C	TACO1	c.466del	NM_016360.4	NP_057444.2:p.(Ser156ValfsTer13)	NC_000017.10:g.61683751del	(Likely) pathogenic	1 lab	c6c78cfb2f
5:140953174 DIAPH1 G>A	5	140953174	140953174	G	A	DIAPH1	c.2243C>T	NM_005219.5	NP_005210.3:p.(Pro748Leu)	NC_000005.9:g.140953174G>A	VUS	1 lab	c6c85ff11a
2:216226286 FN1 G>A	2	216226286	216226286	G	A	FN1	c.7426C>T	NM_212482.4	NP_997647.2:p.(Arg2476Ter)	NC_000002.11:g.216226286G>A	VUS	1 lab	c6c97de45d
13:20635205 ZMYM2 GT>G	13	20635205	20635210	GT	G	ZMYM2	c.2757del	NM_197968.4	NP_932072.1:p.(Leu920CysfsTer18)	NC_000013.10:g.20635210del	(Likely) pathogenic	1 lab	c6ca2ad1d4
8:145698624 KIFC2 C>T	8	145698624	145698624	C	T	KIFC2	c.2228C>T	NM_001369769.2	NP_001356698.1:p.(Ser743Phe)	NC_000008.10:g.145698624C>T	VUS	1 lab	c6ca5e06c5
17:78091459 GAA A>G	17	78091459	78091459	A	G	GAA	c.2392A>G	NM_000152.5	NP_000143.2:p.(Ile798Val)	NC_000017.10:g.78091459A>G	(Likely) benign	1 lab	c6cbe80549
19:50169995 BCL2L12 G>A	19	50169995	50169995	G	A	BCL2L12	c.46G>A	NM_138639.2	NP_619580.2:p.(Val16Ile)	NC_000019.9:g.50169995G>A	VUS	1 lab	c6cccddc0b
6:32805872 TAP2 C>G	6	32805872	32805872	C	G	TAP2	c.139G>C	NM_001290043.2	NP_001276972.1:p.(Gly47Arg)	NC_000006.11:g.32805872C>G	VUS	1 lab	c6cf038375
X:124454978 TEX13C T>C	X	124454978	124454978	T	C	TEX13C	c.1010T>C	NM_001195272.2	NP_001182201.1:p.(Leu337Pro)	NC_000023.10:g.124454978T>C	(Likely) benign	1 lab	c6cf698601
19:47589778 ZC3H4 G>A	19	47589778	47589778	G	A	ZC3H4	c.733C>T	NM_015168.2	NP_055983.1:p.(Arg245Trp)	NC_000019.9:g.47589778G>A	(Likely) benign	1 lab	c6d12b07c7
16:66844600 NAE1 C>G	16	66844600	66844600	C	G	NAE1	c.1110G>C	NM_003905.4	NP_003896.1:p.(Gln370His)	NC_000016.9:g.66844600C>G	VUS	1 lab	c6d1c719b8
X:50376893 SHROOM4 C>T	X	50376893	50376893	C	T	SHROOM4	c.2180G>A	NM_020717.5	NP_065768.2:p.(Arg727Lys)	NC_000023.10:g.50376893C>T	(Likely) benign	1 lab	c6d3c9e54b
2:216257812 FN1 G>A	2	216257812	216257812	G	A	FN1	c.3911C>T	NM_212482.4	NP_997647.2:p.(Ala1304Val)	NC_000002.11:g.216257812G>A	VUS	1 lab	c6d629aeb9
19:45860919 ERCC2 G>C	19	45860919	45860919	G	C	ERCC2	c.1276C>G	NM_000400.4	NP_000391.1:p.(Pro426Ala)	NC_000019.9:g.45860919G>C	VUS	1 lab	c6d67679fc
2:179843309 CCDC141 C>T	2	179843309	179843309	C	T	CCDC141	c.319G>A	NM_173648.4	NP_775919.3:p.(Glu107Lys)	NC_000002.11:g.179843309C>T	VUS	1 lab	c6d767cc12
14:80328006 NRXN3 C>T	14	80328006	80328006	C	T	NRXN3	c.4415C>T	NM_001330195.2	NP_001317124.1:p.(Ala1472Val)	NC_000014.8:g.80328006C>T	VUS	1 lab	c6d778d51a
6:111804138 REV3L G>A	6	111804138	111804138	G	A	REV3L	c.-47C>T	NM_002912.5	NP_002903.3:p.?	NC_000006.11:g.111804138G>A	VUS	1 lab	2ac6380bcd
16:85698706 GSE1 G>T	16	85698706	85698706	G	T	GSE1	c.2730G>T	NM_014615.5	NP_055430.1:p.(Pro910=)	NC_000016.9:g.85698706G>T	VUS	1 lab	c6d84971e5
12:65146507 GNS C>T	12	65146507	65146507	C	T	GNS	c.223G>A	NM_002076.4	NP_002067.1:p.(Gly75Arg)	NC_000012.11:g.65146507C>T	VUS	1 lab	c6d8a0dd7d
2:65243780 SLC1A4 T>C	2	65243780	65243780	T	C	SLC1A4	c.1007T>C	NM_003038.5	NP_003029.2:p.(Phe336Ser)	NC_000002.11:g.65243780T>C	VUS	1 lab	c6d9e29199
19:39051922 RYR1 A>G	19	39051922	39051922	A	G	RYR1	c.12452A>G	NM_000540.3	NP_000531.2:p.(Glu4151Gly)	NC_000019.9:g.39051922A>G	VUS	1 lab	c6dacd2867
X:38156653 RPGR C>T	X	38156653	38156653	C	T	RPGR	c.1298G>A	NM_001034853.2	NP_001030025.1:p.(Gly433Glu)	NC_000023.10:g.38156653C>T	(Likely) benign	1 lab	c6db102867
5:140907183 DIAPH1 G>C	5	140907183	140907183	G	C	DIAPH1	c.3230C>G	NM_005219.5	NP_005210.3:p.(Pro1077Arg)	NC_000005.9:g.140907183G>C	VUS	1 lab	c6db409dfc
14:20248632 OR4M1 C>T	14	20248632	20248632	C	T	OR4M1	c.151C>T	NM_001005500.2	NP_001005500.1:p.(Leu51=)	NC_000014.8:g.20248632C>T	VUS	1 lab	c6dc377d97
10:89474777 PAPSS2 C>T	10	89474777	89474777	C	T	PAPSS2	c.675C>T	NM_001015880.2	NP_001015880.1:p.(His225=)	NC_000010.10:g.89474777C>T	(Likely) benign	1 lab	c6ddf34520
1:3418428 MEGF6 G>A	1	3418428	3418428	G	A	MEGF6	c.2246C>T	NM_001409.4	NP_001400.3:p.(Ala749Val)	NC_000001.10:g.3418428G>A	(Likely) benign	1 lab	c6de06e5c5
10:134736204 CFAP46 G>A	10	134736204	134736204	G	A	CFAP46	c.1265C>T	NM_001200049.3	NP_001186978.2:p.(Thr422Met)	NC_000010.10:g.134736204G>A	(Likely) benign	1 lab	c6dedd1c03
8:68992674 PREX2 G>A	8	68992674	68992674	G	A	PREX2	c.1643-4G>A	NM_024870.4	NP_079146.2:p.?	NC_000008.10:g.68992674G>A	(Likely) benign	1 lab	c6dfe46f94
6:75841720 COL12A1 G>C	6	75841720	75841720	G	C	COL12A1	c.5873C>G	NM_004370.6	NP_004361.3:p.(Pro1958Arg)	NC_000006.11:g.75841720G>C	VUS	1 lab	c6e08e9b09
4:6292945 WFS1 G>T	4	6292945	6292945	G	T	WFS1	c.482G>T	NM_006005.3	NP_005996.2:p.(Arg161Leu)	NC_000004.11:g.6292945G>T	VUS	1 lab	c6e114e17a
4:77065443 NUP54 G>C	4	77065443	77065443	G	C	NUP54	c.154C>G	NM_017426.4	NP_059122.2:p.(Leu52Val)	NC_000004.11:g.77065443G>C	VUS	1 lab	c6e28c5d31
2:175624067 CHRNA1 G>C	2	175624067	175624067	G	C	CHRNA1	c.226C>G	NM_000079.4	NP_000070.1:p.(Leu76Val)	NC_000002.11:g.175624067G>C	VUS	1 lab	c6e294902b
7:151078693 WDR86 GC>G	7	151078693	151078694	GC	G	WDR86	c.1105del	NM_198285.3	NP_938026.2:p.(Ala369ProfsTer83)	NC_000007.13:g.151078694del	VUS	1 lab	c6e3d33e8a
19:48185278 BICRA G>A	19	48185278	48185278	G	A	BICRA	c.2152G>A	NM_001394372.1	NP_001381301.1:p.(Val718Met)	NC_000019.9:g.48185278G>A	(Likely) benign	1 lab	c6e40a1389
6:157527698 ARID1B G>A	6	157527698	157527698	G	A	ARID1B	c.5792G>A	NM_001374828.1	NP_001361757.1:p.(Arg1931His)	NC_000006.11:g.157527698G>A	(Likely) benign	1 lab	c6e70c0ec3
X:30269410 MAGEB1 G>A	X	30269410	30269410	G	A	MAGEB1	c.800G>A	NM_177404.3	NP_796379.1:p.(Arg267His)	NC_000023.10:g.30269410G>A	VUS	1 lab	c6e75c813b
10:123276855 FGFR2 A>T	10	123276855	123276855	A	T	FGFR2	c.1062T>A	NM_000141.5	NP_000132.3:p.(Ser354=)	NC_000010.10:g.123276855A>T	(Likely) benign	1 lab	c6e8ac9f7d
15:40328596 SRP14 GTGCTGCTGC>G	15	40328596	40328624	GTGCTGCTGC	G	SRP14	c.340_348del	NM_003134.6	NP_003125.3:p.(Ala114_Ala116del)	NC_000015.9:g.40328616_40328624del	VUS	1 lab	c6ea38086a
2:179411111 TTN C>A	2	179411111	179411111	C	A	TTN	c.94947G>T	NM_001267550.2	NP_001254479.2:p.(Trp31649Cys)	NC_000002.11:g.179411111C>A	VUS	1 lab	2ac9fa9844
20:62126868 EEF1A2 AC>A	20	62126868	62126870	AC	A	EEF1A2	c.324+340del	NM_001958.5	NP_001949.1:p.?	NC_000020.10:g.62126870del	(Likely) benign	1 lab	c6ecf281d3
6:12163856 HIVEP1 C>T	6	12163856	12163856	C	T	HIVEP1	c.7319C>T	NM_002114.4	NP_002105.3:p.(Thr2440Ile)	NC_000006.11:g.12163856C>T	(Likely) benign	1 lab	c6ed356674
4:151518235 LRBA C>A	4	151518235	151518235	C	A	LRBA	c.6046+1924G>T	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151518235C>A	(Likely) benign	1 lab	c6ed4e95d9
1:109466691 GPSM2 G>A	1	109466691	109466691	G	A	GPSM2	c.1670G>A	NM_013296.5	NP_037428.3:p.(Arg557His)	NC_000001.10:g.109466691G>A	(Likely) benign	1 lab	c6ee14d6d3
15:22836164 TUBGCP5 A>G	15	22836164	22836164	A	G	TUBGCP5	c.302A>G	NM_052903.6	NP_443135.3:p.(Glu101Gly)	NC_000015.9:g.22836164A>G	VUS	1 lab	c6efc5967d
16:30980662 SETD1A G>A	16	30980662	30980662	G	A	SETD1A	c.2807G>A	NM_014712.3	NP_055527.1:p.(Arg936His)	NC_000016.9:g.30980662G>A	(Likely) benign	1 lab	c6f1a9171c
1:22179307 HSPG2 G>A	1	22179307	22179307	G	A	HSPG2	c.6610C>T	NM_005529.7	NP_005520.4:p.(Arg2204Trp)	NC_000001.10:g.22179307G>A	VUS	1 lab	c6f1cd6f19
15:66995769 SMAD6 C>G	15	66995769	66995769	C	G	SMAD6	c.173C>G	NM_005585.5	NP_005576.3:p.(Ser58Cys)	NC_000015.9:g.66995769C>G	VUS	1 lab	c70226ced1
19:18266808 PIK3R2 C>T	19	18266808	18266808	C	T	PIK3R2	c.119C>T	NM_005027.4	NP_005018.2:p.(Ala40Val)	NC_000019.9:g.18266808C>T	(Likely) benign	1 lab	c6f1db6c91
12:49440462 KMT2D T>C	12	49440462	49440462	T	C	KMT2D	c.4348A>G	NM_003482.4	NP_003473.3:p.(Ile1450Val)	NC_000012.11:g.49440462T>C	(Likely) benign	1 lab	c6f34a13b3
9:3247986 RFX3 TA>T	9	3247986	3247987	TA	T	RFX3	c.1968+45del	NM_001282116.2	NP_001269045.1:p.?	NC_000009.11:g.3247987del	(Likely) benign	1 lab	c6f536cfbf
4:1808862 FGFR3 C>T	4	1808862	1808862	C	T	FGFR3	c.2294C>T	NM_000142.5	NP_000133.1:p.(Ala765Val)	NC_000004.11:g.1808862C>T	VUS	1 lab	c6f7ca3497
20:60884483 LAMA5 C>T	20	60884483	60884483	C	T	LAMA5	c.10997G>A	NM_005560.4	NP_005551.3:p.(Arg3666Lys)	NC_000020.10:g.60884483C>T	(Likely) benign	1 lab	2cc160dfe5
1:171605526 MYOC C>T	1	171605526	171605526	C	T	MYOC	c.1054G>A	NM_000261.2	NP_000252.1:p.(Glu352Lys)	NC_000001.10:g.171605526C>T	VUS	1 lab	c6fa658c87
9:140508745 ARRDC1 C>T	9	140508745	140508745	C	T	ARRDC1	c.619-6C>T	NM_152285.4	NP_689498.1:p.?	NC_000009.11:g.140508745C>T	(Likely) benign	1 lab	c6fb51bb6f
19:42492815 ATP1A3 C>T	19	42492815	42492815	C	T	ATP1A3	c.7-101G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492815C>T	(Likely) benign	1 lab	c6fbfa18cc
1:145281613 NOTCH2NLA C>A	1	145281613	145281613	C	A	NOTCH2NLA	c.543C>A	NM_203458.6	NP_982283.2:p.(Ser181Arg)	NC_000001.10:g.145281613C>A	(Likely) benign	1 lab	c6fdf82743
2:241526428 CAPN10 C>G	2	241526428	241526428	C	G	CAPN10	c.100C>G	NM_023083.4	NP_075571.2:p.(Leu34Val)	NC_000002.11:g.241526428C>G	(Likely) benign	1 lab	c7009d04e2
19:46270383 SIX5 G>T	19	46270383	46270383	G	T	SIX5	c.834C>A	NM_175875.5	NP_787071.3:p.(Asp278Glu)	NC_000019.9:g.46270383G>T	VUS	1 lab	c7034a4f82
18:31319675 ASXL3 A>G	18	31319675	31319675	A	G	ASXL3	c.2307A>G	NM_030632.3	NP_085135.1:p.(Arg769=)	NC_000018.9:g.31319675A>G	(Likely) benign	1 lab	c703cb92dd
15:91545372 VPS33B C>T	15	91545372	91545372	C	T	VPS33B	c.1313G>A	NM_018668.5	NP_061138.3:p.(Arg438Gln)	NC_000015.9:g.91545372C>T	VUS	1 lab	c7065fb605
3:52179892 POC1A G>A	3	52179892	52179892	G	A	POC1A	c.649C>T	NM_015426.5	NP_056241.3:p.(Arg217Trp)	NC_000003.11:g.52179892G>A	(Likely) pathogenic	1 lab	c70844a73a
7:21695550 DNAH11 A>G	7	21695550	21695550	A	G	DNAH11	c.5045A>G	NM_001277115.2	NP_001264044.1:p.(Lys1682Arg)	NC_000007.13:g.21695550A>G	(Likely) benign	1 lab	c708a77698
19:39008084 RYR1 C>T	19	39008084	39008084	C	T	RYR1	c.9771C>T	NM_000540.3	NP_000531.2:p.(Ala3257=)	NC_000019.9:g.39008084C>T	(Likely) benign	1 lab	c70dc62cb8
5:176722440 NSD1 G>A	5	176722440	176722440	G	A	NSD1	c.8071G>A	NM_022455.5	NP_071900.2:p.(Ala2691Thr)	NC_000005.9:g.176722440G>A	(Likely) benign	1 lab	c70dd60057
8:41550161 ANK1 G>A	8	41550161	41550161	G	A	ANK1	c.3858+5C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41550161G>A	(Likely) benign	1 lab	c70dd6e149
X:31196828 DMD T>G	X	31196828	31196828	T	G	DMD	c.10181A>C	NM_004006.3	NP_003997.2:p.(Tyr3394Ser)	NC_000023.10:g.31196828T>G	VUS	1 lab	c7102c6632
1:1454337 ATAD3A G>T	1	1454337	1454337	G	T	ATAD3A	c.481G>T	NM_001170535.3	NP_001164006.1:p.(Glu161Ter)	NC_000001.10:g.1454337G>T	VUS	1 lab	c71193d179
7:94047038 COL1A2 T>C	7	94047038	94047038	T	C	COL1A2	c.1866T>C	NM_000089.4	NP_000080.2:p.(Gly622=)	NC_000007.13:g.94047038T>C	(Likely) benign	1 lab	c713189cfc
19:15288711 NOTCH3 G>T	19	15288711	15288711	G	T	NOTCH3	c.4028C>A	NM_000435.3	NP_000426.2:p.(Pro1343His)	NC_000019.9:g.15288711G>T	VUS	1 lab	c7141c85ce
9:14759901 FREM1 T>C	9	14759901	14759901	T	C	FREM1	c.5205-2A>G	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14759901T>C	VUS	1 lab	c714360153
19:5687813 HSD11B1L G>A	19	5687813	5687813	G	A	HSD11B1L	c.718G>A	NM_198706.3	NP_941995.1:p.(Val240Met)	NC_000019.9:g.5687813G>A	(Likely) benign	1 lab	c71583150f
5:143541820 YIPF5 C>A	5	143541820	143541820	C	A	YIPF5	c.573G>T	NM_030799.9	NP_110426.4:p.(Met191Ile)	NC_000005.9:g.143541820C>A	VUS	1 lab	c715d1da97
7:65447106 GUSB C>G	7	65447106	65447106	C	G	GUSB	c.65G>C	NM_000181.4	NP_000172.2:p.(Gly22Ala)	NC_000007.13:g.65447106C>G	VUS	1 lab	c716695be5
2:202677216 CDK15 C>T	2	202677216	202677216	C	T	CDK15	c.379C>T	NM_001366386.2	NP_001353315.1:p.(Gln127Ter)	NC_000002.11:g.202677216C>T	VUS	1 lab	c71749761c
X:103495163 ESX1 G>T	X	103495163	103495163	G	T	ESX1	c.967C>A	NM_153448.4	NP_703149.1:p.(Pro323Thr)	NC_000023.10:g.103495163G>T	VUS	1 lab	c718225a29
4:6292967 WFS1 C>A	4	6292967	6292967	C	A	WFS1	c.504C>A	NM_006005.3	NP_005996.2:p.(Ser168=)	NC_000004.11:g.6292967C>A	(Likely) benign	1 lab	c718a7d7b0
19:17611625 SLC27A1 G>A	19	17611625	17611625	G	A	SLC27A1	c.1576G>A	NM_198580.3	NP_940982.1:p.(Gly526Ser)	NC_000019.9:g.17611625G>A	(Likely) benign	1 lab	c71e3b9480
5:149500846 PDGFRB G>A	5	149500846	149500846	G	A	PDGFRB	c.2384C>T	NM_002609.4	NP_002600.1:p.(Ser795Phe)	NC_000005.9:g.149500846G>A	(Likely) benign	1 lab	c71ec83d3c
8:33361381 TTI2 G>C	8	33361381	33361381	G	C	TTI2	c.1000C>G	NM_001102401.4	NP_001095871.1:p.(Arg334Gly)	NC_000008.10:g.33361381G>C	VUS	1 lab	c72126ac33
10:28872407 WAC C>CA	10	28872407	28872409	C	CA	WAC	c.356dup	NM_016628.5	NP_057712.2:p.(Asn119LysfsTer2)	NC_000010.10:g.28872409dup	VUS	1 lab	c7244e085e
5:171766566 SH3PXD2B C>T	5	171766566	171766566	C	T	SH3PXD2B	c.1543G>A	NM_001017995.3	NP_001017995.1:p.(Asp515Asn)	NC_000005.9:g.171766566C>T	(Likely) benign	1 lab	c7253edddd
16:89616943 SPG7 A>C	16	89616943	89616943	A	C	SPG7	c.1705A>C	NM_003119.4	NP_003110.1:p.(Lys569Gln)	NC_000016.9:g.89616943A>C	VUS	1 lab	c725753325
11:64673216 ATG2A A>G	11	64673216	64673216	A	G	ATG2A	c.3369T>C	NM_015104.3	NP_055919.2:p.(Tyr1123=)	NC_000011.9:g.64673216A>G	(Likely) benign	1 lab	c72592f5a7
16:2160388 PKD1 CCCCA>C	16	2160388	2160392	CCCCA	C	PKD1	c.4776_4779del	NM_001009944.3	NP_001009944.3:p.(Gly1593ValfsTer39)	NC_000016.9:g.2160389_2160392del	VUS	1 lab	c725db1182
11:17485077 ABCC8 C>T	11	17485077	17485077	C	T	ABCC8	c.487G>A	NM_000352.6	NP_000343.2:p.(Gly163Ser)	NC_000011.9:g.17485077C>T	(Likely) benign	1 lab	c72623fb20
20:62374112 SLC2A4RG G>C	20	62374112	62374112	G	C	SLC2A4RG	c.1021G>C	NM_020062.4	NP_064446.2:p.(Ala341Pro)	NC_000020.10:g.62374112G>C	(Likely) benign	1 lab	c726920610
22:21348967 LZTR1 T>A	22	21348967	21348967	T	A	LZTR1	c.1736T>A	NM_006767.4	NP_006758.2:p.(Val579Glu)	NC_000022.10:g.21348967T>A	VUS	1 lab	c72696aefb
5:139227776 NRG2 C>T	5	139227776	139227776	C	T	NRG2	c.2279G>A	NM_004883.3	NP_004874.1:p.(Arg760Lys)	NC_000005.9:g.139227776C>T	VUS	1 lab	c726aa9eb4
2:21247831 APOB G>A	2	21247831	21247831	G	A	APOB	c.2410C>T	NM_000384.3	NP_000375.3:p.(Arg804Cys)	NC_000002.11:g.21247831G>A	VUS	1 lab	c732c9e69b
1:87045895 CLCA4 ATCCTACACCTAC>A	1	87045895	87045913	ATCCTACACCTAC	A	CLCA4	c.2634_2645del	NM_012128.4	NP_036260.2:p.(Thr884_Pro887del)	NC_000001.10:g.87045902_87045913del	VUS	1 lab	c726cf0d53
22:25023505 GGT1 C>T	22	25023505	25023505	C	T	GGT1	c.1127C>T	NM_001288833.2	NP_001275762.1:p.(Pro376Leu)	NC_000022.10:g.25023505C>T	VUS	1 lab	c7270547a3
7:29923994 WIPF3 CGCT>C	7	29923994	29923997	CGCT	C	WIPF3	c.885_887del	NM_001080529.3	NP_001073998.2:p.(Leu296del)	NC_000007.13:g.29923995_29923997del	(Likely) benign	1 lab	c727e3b6a5
15:75968067 CSPG4 G>A	15	75968067	75968067	G	A	CSPG4	c.6793C>T	NM_001897.5	NP_001888.2:p.(Arg2265Cys)	NC_000015.9:g.75968067G>A	(Likely) benign	1 lab	c7289b1a3b
13:103320158 TPP2 T>C	13	103320158	103320158	T	C	TPP2	c.3371+2883T>C	NM_001330588.2	NP_001317517.1:p.?	NC_000013.10:g.103320158T>C	(Likely) benign	1 lab	c72a445314
7:891095 SUN1 C>G	7	891095	891095	C	G	SUN1	c.733C>G	NM_001130965.3	NP_001124437.1:p.(Leu245Val)	NC_000007.13:g.891095C>G	(Likely) benign	1 lab	c72b63ba46
X:136113122 GPR101 C>T	X	136113122	136113122	C	T	GPR101	c.712G>A	NM_054021.2	NP_473362.1:p.(Val238Ile)	NC_000023.10:g.136113122C>T	(Likely) benign	1 lab	c72bf4fbb6
12:98941587 TMPO T>TA	12	98941587	98941590	T	TA	TMPO	c.1319dup	NM_001032283.3	NP_001027454.1:p.(Asn440LysfsTer5)	NC_000012.11:g.98941590dup	VUS	1 lab	c72eb21dff
3:126708442 PLXNA1 G>A	3	126708442	126708442	G	A	PLXNA1	c.1006G>A	NM_032242.4	NP_115618.3:p.(Val336Met)	NC_000003.11:g.126708442G>A	VUS	1 lab	c73f04d1f2
3:195509878 MUC4 GACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGA>G	3	195509878	195510004	GACACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGCATGACCTGTGA	G	MUC4	c.8477_8572del	NM_018406.7	NP_060876.5:p.(Phe2826_Val2857del)	NC_000003.11:g.195509909_195510004del	(Likely) benign	1 lab	c72fcff3a8
14:103404751 CDC42BPB G>A	14	103404751	103404751	G	A	CDC42BPB	c.4828-3C>T	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103404751G>A	(Likely) benign	1 lab	c732333a1d
14:100119030 HHIPL1 C>T	14	100119030	100119030	C	T	HHIPL1	c.725C>T	NM_001127258.3	NP_001120730.1:p.(Ser242Leu)	NC_000014.8:g.100119030C>T	VUS	1 lab	c73247a3fb
X:129054430 UTP14A C>T	X	129054430	129054430	C	T	UTP14A	c.753-3C>T	NM_006649.4	NP_006640.2:p.?	NC_000023.10:g.129054430C>T	(Likely) benign	1 lab	c732c115f2
8:95272520 GEM G>T	8	95272520	95272520	G	T	GEM	c.212C>A	NM_005261.4	NP_005252.1:p.(Ser71Ter)	NC_000008.10:g.95272520G>T	VUS	1 lab	c73379db24
X:32632545 DMD G>A	X	32632545	32632545	G	A	DMD	c.1357C>T	NM_004006.3	NP_003997.2:p.(Gln453Ter)	NC_000023.10:g.32632545G>A	(Likely) pathogenic	1 lab	c7343b32a7
5:118556760 DMXL1 G>A	5	118556760	118556760	G	A	DMXL1	c.8261G>A	NM_001290321.3	NP_001277250.1:p.(Gly2754Asp)	NC_000005.9:g.118556760G>A	VUS	1 lab	c734538e60
6:51732886 PKHD1 C>T	6	51732886	51732886	C	T	PKHD1	c.7508G>A	NM_138694.4	NP_619639.3:p.(Ser2503Asn)	NC_000006.11:g.51732886C>T	VUS	1 lab	c736d10ec8
15:41148988 SPINT1 G>A	15	41148988	41148988	G	A	SPINT1	c.1357G>A	NM_003710.4	NP_003701.1:p.(Ala453Thr)	NC_000015.9:g.41148988G>A	(Likely) benign	1 lab	c73978f7d9
3:58080683 FLNB T>G	3	58080683	58080683	T	G	FLNB	c.906+2T>G	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58080683T>G	VUS	1 lab	c739a44e06
X:102841580 TCEAL4 A>G	X	102841580	102841580	A	G	TCEAL4	c.-24A>G	NM_001006935.3	NP_001006936.1:p.?	NC_000023.10:g.102841580A>G	(Likely) benign	1 lab	c73abd1344
19:13906484 ZSWIM4 C>T	19	13906484	13906484	C	T	ZSWIM4	c.22C>T	NM_001367834.3	NP_001354763.1:p.(Arg8Trp)	NC_000019.9:g.13906484C>T	(Likely) benign	1 lab	c73b194e8f
3:167183312 SERPINI2 TTG>T	3	167183312	167183314	TTG	T	SERPINI2	c.626_627del	NM_006217.6	NP_006208.1:p.(Ser209TyrfsTer20)	NC_000003.11:g.167183313_167183314del	VUS	1 lab	c73dc9ab33
1:8386112 SLC45A1 C>T	1	8386112	8386112	C	T	SLC45A1	c.715+10C>T	NM_001080397.3	NP_001073866.3:p.?	NC_000001.10:g.8386112C>T	(Likely) benign	1 lab	c743865606
X:17819655 RAI2 G>A	X	17819655	17819655	G	A	RAI2	c.476C>T	NM_021785.6	NP_068557.4:p.(Ala159Val)	NC_000023.10:g.17819655G>A	(Likely) benign	1 lab	c744d6410c
X:128657340 SMARCA1 T>C	X	128657340	128657340	T	C	SMARCA1	c.8A>G	NM_001282874.2	NP_001269803.1:p.(Gln3Arg)	NC_000023.10:g.128657340T>C	(Likely) benign	1 lab	c744db5599
3:130716522 ATP2C1 TA>T	3	130716522	130716527	TA	T	ATP2C1	c.2321del	NM_001199179.3	NP_001186108.1:p.(Asn774ThrfsTer2)	NC_000003.11:g.130716527del	(Likely) pathogenic	1 lab	2ad14667b7
16:3808928 CREBBP T>G	16	3808928	3808928	T	G	CREBBP	c.3296A>C	NM_004380.3	NP_004371.2:p.(Glu1099Ala)	NC_000016.9:g.3808928T>G	VUS	1 lab	c74915c155
17:60585922 TLK2 G>A	17	60585922	60585922	G	A	TLK2	c.82-12212G>A	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60585922G>A	(Likely) benign	1 lab	c7592479f0
17:7909928 GUCY2D G>C	17	7909928	7909928	G	C	GUCY2D	c.1274G>C	NM_000180.4	NP_000171.1:p.(Gly425Ala)	NC_000017.10:g.7909928G>C	VUS	1 lab	c74a723a99
2:157183309 NR4A2 C>T	2	157183309	157183309	C	T	NR4A2	c.1282G>A	NM_006186.4	NP_006177.1:p.(Ala428Thr)	NC_000002.11:g.157183309C>T	(Likely) benign	1 lab	c74aeb2dd3
12:64202705 RXYLT1 T>G	12	64202705	64202705	T	G	RXYLT1	c.1165T>G	NM_014254.3	NP_055069.1:p.(Trp389Gly)	NC_000012.11:g.64202705T>G	VUS	1 lab	c74aec5a49
2:163134822 IFIH1 T>A	2	163134822	163134822	T	A	IFIH1	c.1658A>T	NM_022168.4	NP_071451.2:p.(Lys553Ile)	NC_000002.11:g.163134822T>A	VUS	1 lab	2ad4acea1c
14:64519322 SYNE2 G>C	14	64519322	64519322	G	C	SYNE2	c.8691G>C	NM_182914.2	NP_878918.2:p.(Glu2897Asp)	NC_000014.8:g.64519322G>C	(Likely) benign	1 lab	2cc29bcc78
1:977489 AGRN A>G	1	977489	977489	A	G	AGRN	c.1331A>G	NM_198576.4	NP_940978.2:p.(Gln444Arg)	NC_000001.10:g.977489A>G	(Likely) benign	1 lab	c74ceb9c30
1:228612841 H3-4 T>TA	1	228612841	228612842	T	TA	H3-4	c.185dup	NM_003493.3	NP_003484.1:p.(Ile63AsnfsTer18)	NC_000001.10:g.228612842dup	VUS	1 lab	c74e7aebc9
19:18971130 UPF1 C>T	19	18971130	18971130	C	T	UPF1	c.2183C>T	NM_002911.4	NP_002902.2:p.(Ala728Val)	NC_000019.9:g.18971130C>T	(Likely) benign	1 lab	c74ec8ded5
17:78343587 RNF213 A>C	17	78343587	78343587	A	C	RNF213	c.12345A>C	NM_001256071.3	NP_001243000.2:p.(Lys4115Asn)	NC_000017.10:g.78343587A>C	(Likely) pathogenic	1 lab	c74fca87e7
1:63044645 DOCK7 C>A	1	63044645	63044645	C	A	DOCK7	c.1872-8G>T	NM_001367561.1	NP_001354490.1:p.?	NC_000001.10:g.63044645C>A	(Likely) benign	1 lab	c7510e59ee
7:6017235 PMS2 C>T	7	6017235	6017235	C	T	PMS2	c.2429G>A	NM_000535.7	NP_000526.2:p.(Arg810Lys)	NC_000007.13:g.6017235C>T	VUS	1 lab	c751e414ee
9:35792469 NPR2 G>T	9	35792469	35792469	G	T	NPR2	c.64G>T	NM_003995.4	NP_003986.2:p.(Ala22Ser)	NC_000009.11:g.35792469G>T	(Likely) benign	1 lab	c7525b138a
6:51613045 PKHD1 C>T	6	51613045	51613045	C	T	PKHD1	c.9369G>A	NM_138694.4	NP_619639.3:p.(Ala3123=)	NC_000006.11:g.51613045C>T	(Likely) benign	1 lab	c753d08ac6
X:7812002 VCX A>G	X	7812002	7812002	A	G	VCX	c.566A>G	NM_001393662.1	NP_001380591.1:p.(Gln189Arg)	NC_000023.10:g.7812002A>G	VUS	1 lab	c757f09296
2:166747056 TTC21B T>A	2	166747056	166747056	T	A	TTC21B	c.3196A>T	NM_024753.5	NP_079029.3:p.(Ile1066Phe)	NC_000002.11:g.166747056T>A	VUS	1 lab	c758c07e6d
12:114793392 TBX5 T>C	12	114793392	114793392	T	C	TBX5	c.1502A>G	NM_181486.4	NP_852259.1:p.(Gln501Arg)	NC_000012.11:g.114793392T>C	VUS	1 lab	c759950765
9:98683545 ERCC6L2 C>T	9	98683545	98683545	C	T	ERCC6L2	c.1247C>T	NM_020207.7	NP_064592.3:p.(Ser416Phe)	NC_000009.11:g.98683545C>T	VUS	1 lab	c759ea8de9
17:7832599 KCNAB3 T>C	17	7832599	7832599	T	C	KCNAB3	c.155A>G	NM_004732.4	NP_004723.2:p.(Lys52Arg)	NC_000017.10:g.7832599T>C	(Likely) benign	1 lab	c75bdfb947
11:61076501 DDB1 G>A	11	61076501	61076501	G	A	DDB1	c.2615C>T	NM_001923.5	NP_001914.3:p.(Ser872Phe)	NC_000011.9:g.61076501G>A	VUS	1 lab	c75c41bbf3
8:145640236 SLC39A4 C>T	8	145640236	145640236	C	T	SLC39A4	c.849G>A	NM_130849.4	NP_570901.3:p.(Ser283=)	NC_000008.10:g.145640236C>T	(Likely) benign	1 lab	2cc2bad62e
8:116426858 TRPS1 T>C	8	116426858	116426858	T	C	TRPS1	c.3278A>G	NM_014112.5	NP_054831.2:p.(Tyr1093Cys)	NC_000008.10:g.116426858T>C	(Likely) benign	1 lab	c75cf1a774
X:92965013 FAM133A G>A	X	92965013	92965013	G	A	FAM133A	c.595G>A	NM_001171109.2	NP_001164580.1:p.(Asp199Asn)	NC_000023.10:g.92965013G>A	VUS	1 lab	c75e5515fb
9:133759814 ABL1 T>G	9	133759814	133759814	T	G	ABL1	c.2137T>G	NM_005157.6	NP_005148.2:p.(Phe713Val)	NC_000009.11:g.133759814T>G	VUS	1 lab	c75f76576f
1:156096634 LMNA G>A	1	156096634	156096634	G	A	LMNA	c.357-3774G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096634G>A	(Likely) benign	1 lab	c7636c6919
7:121623845 PTPRZ1 T>G	7	121623845	121623845	T	G	PTPRZ1	c.746T>G	NM_002851.3	NP_002842.2:p.(Phe249Cys)	NC_000007.13:g.121623845T>G	VUS	1 lab	c765348beb
X:100749016 ARMCX4 G>GAGGCTC	X	100749016	100749017	G	GAGGCTC	ARMCX4	c.5440_5441insAGGCTC	NM_001256155.3	NP_001243084.2:p.(Gly1814delinsGluAlaArg)	NC_000023.10:g.100749016_100749017insAGGCTC	(Likely) benign	1 lab	c76598d480
11:61538980 MYRF C>T	11	61538980	61538980	C	T	MYRF	c.749C>T	NM_001127392.3	NP_001120864.1:p.(Thr250Ile)	NC_000011.9:g.61538980C>T	(Likely) benign	1 lab	c766049c0b
17:80039081 FASN C>T	17	80039081	80039081	C	T	FASN	c.6554G>A	NM_004104.5	NP_004095.4:p.(Arg2185Gln)	NC_000017.10:g.80039081C>T	(Likely) benign	1 lab	c76612b9a8
2:232995393 DIS3L2 A>C	2	232995393	232995393	A	C	DIS3L2	c.666A>C	NM_152383.5	NP_689596.4:p.(Arg222Ser)	NC_000002.11:g.232995393A>C	VUS	1 lab	c7669ed632
14:105415338 AHNAK2 G>T	14	105415338	105415338	G	T	AHNAK2	c.6450C>A	NM_138420.4	NP_612429.2:p.(Asp2150Glu)	NC_000014.8:g.105415338G>T	VUS	1 lab	c7680dd8bf
1:240371290 FMN2 G>A	1	240371290	240371290	G	A	FMN2	c.3178G>A	NM_020066.5	NP_064450.3:p.(Gly1060Arg)	NC_000001.10:g.240371290G>A	VUS	1 lab	c76824bc51
2:183826879 NCKAP1 A>G	2	183826879	183826879	A	G	NCKAP1	c.1881+8T>C	NM_013436.5	NP_038464.1:p.?	NC_000002.11:g.183826879A>G	(Likely) benign	1 lab	c7692b951b
2:215674198 BARD1 A>C	2	215674198	215674198	A	C	BARD1	c.96T>G	NM_000465.4	NP_000456.2:p.(Gly32=)	NC_000002.11:g.215674198A>C	(Likely) benign	1 lab	c769c7e774
6:152464874 SYNE1 T>A	6	152464874	152464874	T	A	SYNE1	c.25003A>T	NM_182961.4	NP_892006.3:p.(Ile8335Phe)	NC_000006.11:g.152464874T>A	(Likely) benign	1 lab	c76cac4103
16:29899946 SEZ6L2 C>T	16	29899946	29899946	C	T	SEZ6L2	c.954G>A	NM_001243332.2	NP_001230261.1:p.(Ser318=)	NC_000016.9:g.29899946C>T	VUS	1 lab	c76ea39bc0
3:181430362 SOX2 A>C	3	181430362	181430362	A	C	SOX2	c.214A>C	NM_003106.4	NP_003097.1:p.(Ser72Arg)	NC_000003.11:g.181430362A>C	VUS	1 lab	c76f420ce8
17:4798459 MINK1 C>T	17	4798459	4798459	C	T	MINK1	c.3007C>T	NM_153827.5	NP_722549.2:p.(Arg1003Trp)	NC_000017.10:g.4798459C>T	VUS	1 lab	c77041969c
7:128482882 FLNC C>T	7	128482882	128482882	C	T	FLNC	c.2424C>T	NM_001458.5	NP_001449.3:p.(Gly808=)	NC_000007.13:g.128482882C>T	VUS	1 lab	c770806bf3
22:41537086 EP300 A>G	22	41537086	41537086	A	G	EP300	c.1913A>G	NM_001429.4	NP_001420.2:p.(Tyr638Cys)	NC_000022.10:g.41537086A>G	VUS	1 lab	c772419f77
7:96635515 DLX6 T>TCGGCGG	7	96635515	96635531	T	TCGGCGG	DLX6	c.237_242dup	NM_005222.4	NP_005213.3:p.(Ala82_Ala83dup)	NC_000007.13:g.96635526_96635531dup	VUS	1 lab	c7732e608a
11:71907061 FOLR1 G>A	11	71907061	71907061	G	A	FOLR1	c.614G>A	NM_016729.3	NP_057941.1:p.(Gly205Glu)	NC_000011.9:g.71907061G>A	VUS	1 lab	c7744ea715
12:124235784 ATP6V0A2 C>T	12	124235784	124235784	C	T	ATP6V0A2	c.2055+8C>T	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124235784C>T	VUS	1 lab	c77721be5b
X:18775737 PPEF1 G>A	X	18775737	18775737	G	A	PPEF1	c.397-8G>A	NM_001377996.1	NP_001364925.1:p.?	NC_000023.10:g.18775737G>A	(Likely) benign	1 lab	c778203708
X:65423217 HEPH A>C	X	65423217	65423217	A	C	HEPH	c.2089A>C	NM_001367233.3	NP_001354162.2:p.(Ile697Leu)	NC_000023.10:g.65423217A>C	VUS	1 lab	c778af5d01
2:176959348 HOXD13 C>T	2	176959348	176959348	C	T	HOXD13	c.922C>T	NM_000523.4	NP_000514.2:p.(Arg308Cys)	NC_000002.11:g.176959348C>T	VUS	1 lab	c779ae3d9f
1:12004626 PLOD1 C>T	1	12004626	12004626	C	T	PLOD1	c.77-3407C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12004626C>T	(Likely) benign	1 lab	c77aba0204
5:112173588 APC C>T	5	112173588	112173588	C	T	APC	c.2297C>T	NM_000038.6	NP_000029.2:p.(Ala766Val)	NC_000005.9:g.112173588C>T	VUS	1 lab	c77e0b560a
11:6292416 CCKBR G>T	11	6292416	6292416	G	T	CCKBR	c.987G>T	NM_176875.4	NP_795344.1:p.(Lys329Asn)	NC_000011.9:g.6292416G>T	(Likely) benign	1 lab	c77ef247c0
15:99452063 IGF1R C>T	15	99452063	99452063	C	T	IGF1R	c.1397C>T	NM_000875.5	NP_000866.1:p.(Thr466Met)	NC_000015.9:g.99452063C>T	VUS	1 lab	c78386674c
10:70231643 DNA2 C>G	10	70231643	70231643	C	G	DNA2	c.-22G>C	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70231643C>G	VUS	1 lab	c783942eaf
9:135944148 CEL G>A	9	135944148	135944148	G	A	CEL	c.985G>A	NM_001807.6	NP_001798.3:p.(Asp329Asn)	NC_000009.11:g.135944148G>A	(Likely) benign	1 lab	c7843dd5dc
17:57733296 CLTC A>G	17	57733296	57733296	A	G	CLTC	c.877A>G	NM_004859.4	NP_004850.1:p.(Ile293Val)	NC_000017.10:g.57733296A>G	(Likely) benign	1 lab	c784477f03
9:101747888 COL15A1 G>A	9	101747888	101747888	G	A	COL15A1	c.142G>A	NM_001855.5	NP_001846.3:p.(Gly48Ser)	NC_000009.11:g.101747888G>A	VUS	1 lab	c784e9ac4c
11:284579 NLRP6 C>T	11	284579	284579	C	T	NLRP6	c.2474C>T	NM_001276700.2	NP_001263629.1:p.(Ala825Val)	NC_000011.9:g.284579C>T	(Likely) benign	1 lab	c785d4094e
2:73826534 ALMS1 A>T	2	73826534	73826534	A	T	ALMS1	c.11554A>T	NM_001378454.1	NP_001365383.1:p.(Asn3852Tyr)	NC_000002.11:g.73826534A>T	(Likely) benign	1 lab	c7867932c3
1:145281408 NOTCH2NLA C>T	1	145281408	145281408	C	T	NOTCH2NLA	c.338C>T	NM_203458.6	NP_982283.2:p.(Pro113Leu)	NC_000001.10:g.145281408C>T	(Likely) benign	1 lab	c78881f111
4:5624288 EVC2 C>T	4	5624288	5624288	C	T	EVC2	c.2477G>A	NM_147127.5	NP_667338.3:p.(Arg826Gln)	NC_000004.11:g.5624288C>T	VUS	1 lab	c789d99ed7
12:23728723 SOX5 T>A	12	23728723	23728723	T	A	SOX5	c.1214A>T	NM_006940.6	NP_008871.3:p.(Asp405Val)	NC_000012.11:g.23728723T>A	(Likely) benign	1 lab	c78a68cc5a
2:179401854 TTN C>T	2	179401854	179401854	C	T	TTN	c.99982G>A	NM_001267550.2	NP_001254479.2:p.(Val33328Met)	NC_000002.11:g.179401854C>T	VUS	1 lab	c78b17f102
8:94792903 TMEM67 A>C	8	94792903	94792903	A	C	TMEM67	c.797A>C	NM_153704.6	NP_714915.3:p.(Asp266Ala)	NC_000008.10:g.94792903A>C	VUS	1 lab	c78be3cd53
19:13345814 CACNA1A C>T	19	13345814	13345814	C	T	CACNA1A	c.5170G>A	NM_001127222.2	NP_001120694.1:p.(Asp1724Asn)	NC_000019.9:g.13345814C>T	(Likely) benign	1 lab	c78cb4ac4f
X:109697373 RTL9 G>C	X	109697373	109697373	G	C	RTL9	c.3528G>C	NM_001385449.1	NP_001372378.1:p.(Met1176Ile)	NC_000023.10:g.109697373G>C	VUS	1 lab	c78cf4a30f
17:27868118 TAOK1 T>C	17	27868118	27868118	T	C	TAOK1	c.2545-1461T>C	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27868118T>C	(Likely) benign	1 lab	c78e6480b8
2:47705659 MSH2 G>C	2	47705659	47705659	G	C	MSH2	c.2458+1G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47705659G>C	(Likely) pathogenic	1 lab	c790e55144
11:31816339 PAX6 G>A	11	31816339	31816339	G	A	PAX6	c.566-3C>T	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31816339G>A	(Likely) benign	1 lab	c79174721e
19:55870792 GARIN5B C>A	19	55870792	55870792	C	A	GARIN5B	c.1444G>T	NM_001145402.2	NP_001138874.1:p.(Ala482Ser)	NC_000019.9:g.55870792C>A	(Likely) benign	1 lab	c791b92b9c
2:73646411 ALMS1 A>C	2	73646411	73646411	A	C	ALMS1	c.611A>C	NM_001378454.1	NP_001365383.1:p.(Glu204Ala)	NC_000002.11:g.73646411A>C	(Likely) benign	1 lab	c7923c3d1e
19:39993668 DLL3 C>G	19	39993668	39993668	C	G	DLL3	c.623C>G	NM_203486.3	NP_982353.1:p.(Ala208Gly)	NC_000019.9:g.39993668C>G	(Likely) benign	1 lab	c793857fdd
18:43262426 SLC14A2 A>G	18	43262426	43262426	A	G	SLC14A2	c.2705A>G	NM_007163.4	NP_009094.3:p.(Gln902Arg)	NC_000018.9:g.43262426A>G	VUS	1 lab	c795fc8293
11:57100230 SSRP1 G>A	11	57100230	57100230	G	A	SSRP1	c.637C>T	NM_003146.3	NP_003137.1:p.(Arg213Cys)	NC_000011.9:g.57100230G>A	VUS	1 lab	c796a1873f
4:103645118 MANBA C>T	4	103645118	103645118	C	T	MANBA	c.279G>A	NM_005908.4	NP_005899.3:p.(Trp93Ter)	NC_000004.11:g.103645118C>T	(Likely) pathogenic	1 lab	c7990162e7
19:9012894 MUC16 A>AG	19	9012894	9012895	A	AG	MUC16	c.38735dup	NM_001401501.2	NP_001388430.1:p.(Gly12913TrpfsTer65)	NC_000019.9:g.9012895dup	(Likely) benign	1 lab	c7991d3494
X:55034116 APEX2 C>T	X	55034116	55034116	C	T	APEX2	c.*248C>T	NM_014481.4	NP_055296.2:p.?	NC_000023.10:g.55034116C>T	VUS	1 lab	c79a02b5b7
17:17717013 SREBF1 G>A	17	17717013	17717013	G	A	SREBF1	c.2972C>T	NM_004176.5	NP_004167.3:p.(Pro991Leu)	NC_000017.10:g.17717013G>A	(Likely) benign	1 lab	c79b4fc0dd
19:41916679 BCKDHA G>A	19	41916679	41916679	G	A	BCKDHA	c.246G>A	NM_000709.4	NP_000700.1:p.(Met82Ile)	NC_000019.9:g.41916679G>A	VUS	1 lab	c79c43461a
2:152359289 NEB TGGCC>T	2	152359289	152359293	TGGCC	T	NEB	c.23928+14_23928+17del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152359290_152359293del	(Likely) benign	1 lab	c79ddb91fa
2:197081750 HECW2 T>G	2	197081750	197081750	T	G	HECW2	c.4476A>C	NM_001348768.2	NP_001335697.1:p.(Gln1492His)	NC_000002.11:g.197081750T>G	(Likely) benign	1 lab	c79ebd87a7
20:57896160 EDN3 T>C	20	57896160	57896160	T	C	EDN3	c.454T>C	NM_207034.3	NP_996917.1:p.(Ser152Pro)	NC_000020.10:g.57896160T>C	VUS	1 lab	c79edc5af5
1:197390368 CRB1 A>G	1	197390368	197390368	A	G	CRB1	c.1203A>G	NM_001257965.2	NP_001244894.1:p.(Leu401=)	NC_000001.10:g.197390368A>G	(Likely) benign	1 lab	2ad6293dd4
7:103205818 RELN A>G	7	103205818	103205818	A	G	RELN	c.5117T>C	NM_005045.4	NP_005036.2:p.(Ile1706Thr)	NC_000007.13:g.103205818A>G	VUS	1 lab	c79f712711
11:1016685 MUC6 T>G	11	1016685	1016685	T	G	MUC6	c.6116A>C	NM_005961.3	NP_005952.2:p.(His2039Pro)	NC_000011.9:g.1016685T>G	VUS	1 lab	c7a0992022
19:14143300 IL27RA T>A	19	14143300	14143300	T	A	IL27RA	c.203T>A	NM_004843.4	NP_004834.1:p.(Leu68His)	NC_000019.9:g.14143300T>A	VUS	1 lab	c7a32e904b
8:6302151 MCPH1 A>G	8	6302151	6302151	A	G	MCPH1	c.908A>G	NM_024596.5	NP_078872.3:p.(Gln303Arg)	NC_000008.10:g.6302151A>G	(Likely) benign	1 lab	c7a375ed6d
7:34182888 BMPER T>C	7	34182888	34182888	T	C	BMPER	c.1792T>C	NM_001365308.1	NP_001352237.1:p.(Tyr598His)	NC_000007.13:g.34182888T>C	VUS	1 lab	c7a3d84cfc
8:125109529 FER1L6 G>A	8	125109529	125109529	G	A	FER1L6	c.4713G>A	NM_001039112.2	NP_001034201.2:p.(Trp1571Ter)	NC_000008.10:g.125109529G>A	VUS	1 lab	c7a6e4974b
16:1825626 EME2 G>A	16	1825626	1825626	G	A	EME2	c.720G>A	NM_001257370.2	NP_001244299.1:p.(Trp240Ter)	NC_000016.9:g.1825626G>A	VUS	1 lab	c888898124
X:153707121 LAGE3 G>A	X	153707121	153707121	G	A	LAGE3	c.134C>T	NM_006014.5	NP_006005.2:p.(Pro45Leu)	NC_000023.10:g.153707121G>A	(Likely) benign	1 lab	c7a80fa98a
6:152560744 SYNE1 G>A	6	152560744	152560744	G	A	SYNE1	c.19991C>T	NM_182961.4	NP_892006.3:p.(Thr6664Ile)	NC_000006.11:g.152560744G>A	(Likely) benign	1 lab	c7a8d6ba7e
X:3235987 MXRA5 G>C	X	3235987	3235987	G	C	MXRA5	c.5735C>G	NM_015419.4	NP_056234.2:p.(Thr1912Ser)	NC_000023.10:g.3235987G>C	VUS	1 lab	c7a8f82a7c
19:38946396 RYR1 G>A	19	38946396	38946396	G	A	RYR1	c.1791+5G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38946396G>A	VUS	1 lab	c7aa1a95f0
19:40423979 FCGBP G>A	19	40423979	40423979	G	A	FCGBP	c.2224C>T	NM_003890.3	NP_003881.2:p.(Pro742Ser)	NC_000019.9:g.40423979G>A	VUS	1 lab	c7ac43f617
17:4642637 CXCL16 C>T	17	4642637	4642637	C	T	CXCL16	c.-3G>A	NM_001386809.1	NP_001373738.1:p.?	NC_000017.10:g.4642637C>T	(Likely) benign	1 lab	c7ad181efc
10:114912188 TCF7L2 C>T	10	114912188	114912188	C	T	TCF7L2	c.1258C>T	NM_001367943.1	NP_001354872.1:p.(Arg420Trp)	NC_000010.10:g.114912188C>T	(Likely) pathogenic	1 lab	c7adcba923
16:78420847 WWOX TGAGTGTTCCAGTG>T	16	78420847	78420863	TGAGTGTTCCAGTG	T	WWOX	c.605+6_605+18del	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78420851_78420863del	VUS	1 lab	c7aeeb061f
7:6035238 PMS2 G>T	7	6035238	6035238	G	T	PMS2	c.830C>A	NM_000535.7	NP_000526.2:p.(Thr277Lys)	NC_000007.13:g.6035238G>T	(Likely) benign	1 lab	c7b1bdff92
2:43010488 HAAO G>A	2	43010488	43010488	G	A	HAAO	c.316C>T	NM_012205.3	NP_036337.2:p.(Arg106Ter)	NC_000002.11:g.43010488G>A	VUS	1 lab	c7b225d778
1:980903 AGRN C>T	1	980903	980903	C	T	AGRN	c.2536C>T	NM_198576.4	NP_940978.2:p.(Pro846Ser)	NC_000001.10:g.980903C>T	VUS	1 lab	c7b2f2a9df
5:140773812 PCDHGB4 G>A	5	140773812	140773812	G	A	PCDHGB4	c.2397+3964G>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140773812G>A	VUS	1 lab	c7b4d373d6
12:115117414 TBX3 T>C	12	115117414	115117414	T	C	TBX3	c.700A>G	NM_005996.4	NP_005987.3:p.(Ile234Val)	NC_000012.11:g.115117414T>C	(Likely) benign	1 lab	2ad701d0c7
5:149921151 NDST1 G>A	5	149921151	149921151	G	A	NDST1	c.1769G>A	NM_001543.5	NP_001534.1:p.(Arg590His)	NC_000005.9:g.149921151G>A	VUS	1 lab	c7bce361cf
19:11327760 DOCK6 C>T	19	11327760	11327760	C	T	DOCK6	c.3724G>A	NM_020812.4	NP_065863.2:p.(Gly1242Ser)	NC_000019.9:g.11327760C>T	(Likely) benign	1 lab	c7bd41a294
14:91766394 CCDC88C C>T	14	91766394	91766394	C	T	CCDC88C	c.3656G>A	NM_001080414.4	NP_001073883.2:p.(Arg1219His)	NC_000014.8:g.91766394C>T	(Likely) benign	1 lab	c7bda0072b
9:34373009 MYORG AAGG>A	9	34373009	34373017	AAGG	A	MYORG	c.-63-8_-63-6del	NM_020702.5	NP_065753.2:p.?	NC_000009.11:g.34373015_34373017del	VUS	1 lab	c7be023140
16:81904375 PLCG2 C>A	16	81904375	81904375	C	A	PLCG2	c.565-82C>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81904375C>A	(Likely) benign	1 lab	331d4b2796
16:67964622 CTRL C>CG	16	67964622	67964623	C	CG	CTRL	c.318+6_318+7insC	NM_001907.3	NP_001898.1:p.?	NC_000016.9:g.67964622_67964623insG	VUS	1 lab	c7c1d7cd22
1:225463664 DNAH14 G>A	1	225463664	225463664	G	A	DNAH14	c.8059G>A	NM_001367479.1	NP_001354408.1:p.(Asp2687Asn)	NC_000001.10:g.225463664G>A	VUS	1 lab	c7c2c6e2f0
X:69263514 AWAT2 T>C	X	69263514	69263514	T	C	AWAT2	c.286A>G	NM_001002254.1	NP_001002254.1:p.(Ile96Val)	NC_000023.10:g.69263514T>C	(Likely) benign	1 lab	c7c2f7852f
19:46443821 NOVA2 C>G	19	46443821	46443821	C	G	NOVA2	c.779G>C	NM_002516.4	NP_002507.1:p.(Gly260Ala)	NC_000019.9:g.46443821C>G	(Likely) benign	1 lab	c7c2f7aa0d
2:36737162 CRIM1 C>T	2	36737162	36737162	C	T	CRIM1	c.1538C>T	NM_016441.3	NP_057525.1:p.(Thr513Ile)	NC_000002.11:g.36737162C>T	(Likely) benign	1 lab	c7c4e5b9a5
X:2853063 ARSL G>A	X	2853063	2853063	G	A	ARSL	c.1580C>T	NM_000047.3	NP_000038.2:p.(Thr527Ile)	NC_000023.10:g.2853063G>A	VUS	1 lab	c7c528280e
11:108216485 ATM T>C	11	108216485	108216485	T	C	ATM	c.8434T>C	NM_000051.4	NP_000042.3:p.(Ser2812Pro)	NC_000011.9:g.108216485T>C	VUS	1 lab	2ad7a7c10a
1:229462556 CCSAP A>C	1	229462556	229462556	A	C	CCSAP	c.565T>G	NM_145257.5	NP_660300.3:p.(Trp189Gly)	NC_000001.10:g.229462556A>C	(Likely) benign	1 lab	c7c85dc2ff
2:152354757 NEB C>G	2	152354757	152354757	C	G	NEB	c.24207+17G>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152354757C>G	(Likely) benign	1 lab	c7cc538305
3:183885391 DVL3 A>T	3	183885391	183885391	A	T	DVL3	c.1222A>T	NM_004423.4	NP_004414.3:p.(Ile408Phe)	NC_000003.11:g.183885391A>T	VUS	1 lab	c7cdfa6c27
12:15070187 ERP27 T>C	12	15070187	15070187	T	C	ERP27	c.501A>G	NM_152321.4	NP_689534.1:p.(Ile167Met)	NC_000012.11:g.15070187T>C	(Likely) benign	1 lab	c7ce9dcf30
3:53263383 TKT A>G	3	53263383	53263383	A	G	TKT	c.1177T>C	NM_001064.4	NP_001055.1:p.(Phe393Leu)	NC_000003.11:g.53263383A>G	(Likely) benign	1 lab	c7cea2acef
4:126398395 FAT4 A>G	4	126398395	126398395	A	G	FAT4	c.12385A>G	NM_001291303.3	NP_001278232.1:p.(Ser4129Gly)	NC_000004.11:g.126398395A>G	VUS	1 lab	c7d0863342
15:75692410 SIN3A T>C	15	75692410	75692410	T	C	SIN3A	c.1825A>G	NM_001145358.2	NP_001138830.1:p.(Ile609Val)	NC_000015.9:g.75692410T>C	(Likely) benign	1 lab	c7d115fe35
5:127680098 FBN2 T>C	5	127680098	127680098	T	C	FBN2	c.3322A>G	NM_001999.4	NP_001990.2:p.(Met1108Val)	NC_000005.9:g.127680098T>C	VUS	1 lab	c7d3f68cd7
15:42375446 PLA2G4D G>A	15	42375446	42375446	G	A	PLA2G4D	c.622C>T	NM_178034.4	NP_828848.3:p.(Arg208Cys)	NC_000015.9:g.42375446G>A	(Likely) benign	1 lab	c7d52e682e
17:73517518 TSEN54 C>T	17	73517518	73517518	C	T	TSEN54	c.550C>T	NM_207346.3	NP_997229.2:p.(Leu184Phe)	NC_000017.10:g.73517518C>T	VUS	1 lab	c7d97ed048
X:107403815 COL4A6 G>A	X	107403815	107403815	G	A	COL4A6	c.4403C>T	NM_033641.4	NP_378667.1:p.(Thr1468Met)	NC_000023.10:g.107403815G>A	(Likely) benign	1 lab	c7dc1960cc
11:118365093 KMT2A G>A	11	118365093	118365093	G	A	KMT2A	c.5269G>A	NM_001197104.2	NP_001184033.1:p.(Val1757Ile)	NC_000011.9:g.118365093G>A	VUS	1 lab	c7dc6715bf
19:8210816 FBN3 C>G	19	8210816	8210816	C	G	FBN3	c.356G>C	NM_032447.5	NP_115823.3:p.(Gly119Ala)	NC_000019.9:g.8210816C>G	(Likely) benign	1 lab	c7dc71f6fa
15:43067832 TTBK2 C>G	15	43067832	43067832	C	G	TTBK2	c.1499G>C	NM_173500.4	NP_775771.3:p.(Arg500Pro)	NC_000015.9:g.43067832C>G	(Likely) benign	1 lab	c7dd26359e
1:22207295 HSPG2 C>T	1	22207295	22207295	C	T	HSPG2	c.1852G>A	NM_005529.7	NP_005520.4:p.(Val618Met)	NC_000001.10:g.22207295C>T	(Likely) benign	1 lab	c7dd689bd4
11:64898409 SYVN1 T>G	11	64898409	64898409	T	G	SYVN1	c.923A>C	NM_172230.3	NP_757385.1:p.(Asn308Thr)	NC_000011.9:g.64898409T>G	(Likely) benign	1 lab	c7dff2ffca
5:141335796 PCDH12 C>T	5	141335796	141335796	C	T	PCDH12	c.1621G>A	NM_016580.4	NP_057664.1:p.(Gly541Arg)	NC_000005.9:g.141335796C>T	VUS	1 lab	c7ed551b1a
9:140610770 EHMT1 T>TGG	9	140610770	140610775	T	TGG	EHMT1	c.86-304_86-303dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610774_140610775dup	(Likely) benign	1 lab	c7e02b37b6
6:51503597 PKHD1 C>CA	6	51503597	51503615	C	CA	PKHD1	c.11506+49dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51503615dup	(Likely) benign	1 lab	c834b9ccab
7:44190548 GCK G>A	7	44190548	44190548	G	A	GCK	c.483+7C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44190548G>A	(Likely) benign	1 lab	c7e1892473
12:22680711 C2CD5 T>C	12	22680711	22680711	T	C	C2CD5	c.293A>G	NM_001286176.2	NP_001273105.1:p.(Tyr98Cys)	NC_000012.11:g.22680711T>C	VUS	1 lab	c7e18bdca6
X:32591903 DMD G>A	X	32591903	32591903	G	A	DMD	c.1663C>T	NM_004006.3	NP_003997.2:p.(Gln555Ter)	NC_000023.10:g.32591903G>A	(Likely) pathogenic	1 lab	c7e358f1f9
9:140611489 EHMT1 G>C	9	140611489	140611489	G	C	EHMT1	c.497G>C	NM_024757.5	NP_079033.4:p.(Ser166Thr)	NC_000009.11:g.140611489G>C	VUS	1 lab	c7e4e1e005
1:236995267 MTR T>C	1	236995267	236995267	T	C	MTR	c.1077T>C	NM_000254.3	NP_000245.2:p.(Gly359=)	NC_000001.10:g.236995267T>C	VUS	1 lab	c7e7741522
15:40849475 CCDC32 C>T	15	40849475	40849475	C	T	CCDC32	c.341G>A	NM_001080792.4	NP_001074261.1:p.(Arg114Gln)	NC_000015.9:g.40849475C>T	VUS	1 lab	c7e8069fb5
17:18137148 LLGL1 TAGC>T	17	18137148	18137154	TAGC	T	LLGL1	c.453_455del	NM_004140.4	NP_004131.4:p.(Ala152del)	NC_000017.10:g.18137152_18137154del	VUS	1 lab	c7e8e0f6cf
4:15826640 CD38 G>T	4	15826640	15826640	G	T	CD38	c.499+1G>T	NM_001775.4	NP_001766.2:p.?	NC_000004.11:g.15826640G>T	(Likely) benign	1 lab	c7e94d25a9
5:32780903 NPR3 T>C	5	32780903	32780903	T	C	NPR3	c.1271T>C	NM_001204375.2	NP_001191304.1:p.(Val424Ala)	NC_000005.9:g.32780903T>C	(Likely) benign	1 lab	c7ea326674
1:225341442 DNAH14 T>C	1	225341442	225341442	T	C	DNAH14	c.5197-10T>C	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225341442T>C	(Likely) benign	1 lab	c7eb111c1d
15:64046763 HERC1 T>A	15	64046763	64046763	T	A	HERC1	c.1715A>T	NM_003922.4	NP_003913.3:p.(His572Leu)	NC_000015.9:g.64046763T>A	VUS	1 lab	c7eb434e8d
9:35809141 NPR2 C>T	9	35809141	35809141	C	T	NPR2	c.2987-12C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809141C>T	(Likely) benign	1 lab	c7ecc1dca4
2:233414369 TIGD1 C>T	2	233414369	233414369	C	T	TIGD1	c.224G>A	NM_145702.4	NP_663748.1:p.(Arg75Gln)	NC_000002.11:g.233414369C>T	(Likely) benign	1 lab	c7ede99a93
9:101812154 COL15A1 G>A	9	101812154	101812154	G	A	COL15A1	c.2881G>A	NM_001855.5	NP_001846.3:p.(Val961Ile)	NC_000009.11:g.101812154G>A	(Likely) benign	1 lab	c7f2452d4a
4:128807372 PLK4 A>G	4	128807372	128807372	A	G	PLK4	c.847A>G	NM_014264.5	NP_055079.3:p.(Ile283Val)	NC_000004.11:g.128807372A>G	(Likely) benign	1 lab	c7f246776b
10:61832315 ANK3 T>C	10	61832315	61832315	T	C	ANK3	c.8324A>G	NM_020987.5	NP_066267.2:p.(Asp2775Gly)	NC_000010.10:g.61832315T>C	VUS	1 lab	c7f28e7ec7
13:110862496 COL4A1 G>A	13	110862496	110862496	G	A	COL4A1	c.532C>T	NM_001845.6	NP_001836.3:p.(Pro178Ser)	NC_000013.10:g.110862496G>A	VUS	1 lab	c7f410ee11
7:92731401 SAMD9 A>G	7	92731401	92731401	A	G	SAMD9	c.4010T>C	NM_017654.4	NP_060124.2:p.(Val1337Ala)	NC_000007.13:g.92731401A>G	(Likely) benign	1 lab	c7f5b9e103
1:120491716 NOTCH2 G>C	1	120491716	120491716	G	C	NOTCH2	c.2513C>G	NM_024408.4	NP_077719.2:p.(Ser838Cys)	NC_000001.10:g.120491716G>C	(Likely) benign	1 lab	c7f617b5be
12:31249861 DDX11 C>G	12	31249861	31249861	C	G	DDX11	c.1699C>G	NM_030653.4	NP_085911.2:p.(Gln567Glu)	NC_000012.11:g.31249861C>G	(Likely) benign	1 lab	2ad9a7b03c
7:105103202 PUS7 T>A	7	105103202	105103202	T	A	PUS7	c.1628-5A>T	NM_019042.5	NP_061915.2:p.?	NC_000007.13:g.105103202T>A	(Likely) benign	1 lab	c7f70b0745
2:148716441 ORC4 T>C	2	148716441	148716441	T	C	ORC4	c.226-6A>G	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148716441T>C	(Likely) benign	1 lab	c7f7aa9c4a
17:48154495 ITGA3 C>T	17	48154495	48154495	C	T	ITGA3	c.2070+10C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48154495C>T	(Likely) benign	1 lab	c7f8d8dd8f
12:14766172 GUCY2C A>G	12	14766172	14766172	A	G	GUCY2C	c.3101T>C	NM_004963.4	NP_004954.2:p.(Leu1034Ser)	NC_000012.11:g.14766172A>G	VUS	1 lab	c7f8e62d2c
1:7309567 CAMTA1 A>G	1	7309567	7309567	A	G	CAMTA1	c.319A>G	NM_015215.4	NP_056030.1:p.(Met107Val)	NC_000001.10:g.7309567A>G	(Likely) benign	1 lab	c7f9ce6833
21:47531470 COL6A2 C>T	21	47531470	47531470	C	T	COL6A2	c.80C>T	NM_001849.4	NP_001840.3:p.(Ser27Leu)	NC_000021.8:g.47531470C>T	VUS	1 lab	c7fac41ec4
8:145745747 LRRC14 A>T	8	145745747	145745747	A	T	LRRC14	c.455A>T	NM_014665.4	NP_055480.1:p.(Gln152Leu)	NC_000008.10:g.145745747A>T	VUS	1 lab	c7fd4c2c29
22:24135823 SMARCB1 G>A	22	24135823	24135823	G	A	SMARCB1	c.310G>A	NM_003073.5	NP_003064.2:p.(Asp104Asn)	NC_000022.10:g.24135823G>A	VUS	1 lab	c8014a0f68
1:206681098 RASSF5 G>A	1	206681098	206681098	G	A	RASSF5	c.163G>A	NM_182663.4	NP_872604.1:p.(Gly55Arg)	NC_000001.10:g.206681098G>A	(Likely) benign	1 lab	c801f6a636
7:139717532 TBXAS1 C>T	7	139717532	139717532	C	T	TBXAS1	c.1426C>T	NM_001061.7	NP_001052.3:p.(Pro476Ser)	NC_000007.13:g.139717532C>T	VUS	1 lab	c802a8f0d8
12:12356189 LRP6 C>T	12	12356189	12356189	C	T	LRP6	c.595G>A	NM_002336.3	NP_002327.2:p.(Ala199Thr)	NC_000012.11:g.12356189C>T	VUS	1 lab	c804ab1007
X:153131272 L1CAM G>A	X	153131272	153131272	G	A	L1CAM	c.2434C>T	NM_001278116.2	NP_001265045.1:p.(Pro812Ser)	NC_000023.10:g.153131272G>A	VUS	1 lab	c804ac7f9b
1:169346081 BLZF1 G>C	1	169346081	169346081	G	C	BLZF1	c.332G>C	NM_001320973.2	NP_001307902.1:p.(Gly111Ala)	NC_000001.10:g.169346081G>C	(Likely) benign	1 lab	c804e7f47c
8:143957695 CYP11B1 C>T	8	143957695	143957695	C	T	CYP11B1	c.916G>A	NM_000497.4	NP_000488.3:p.(Ala306Thr)	NC_000008.10:g.143957695C>T	(Likely) pathogenic	1 lab	c805989def
2:121726437 GLI2 G>A	2	121726437	121726437	G	A	GLI2	c.791G>A	NM_001374353.1	NP_001361282.1:p.(Arg264Gln)	NC_000002.11:g.121726437G>A	VUS	1 lab	c806fa9556
1:186141181 HMCN1 C>G	1	186141181	186141181	C	G	HMCN1	c.15732C>G	NM_031935.3	NP_114141.2:p.(His5244Gln)	NC_000001.10:g.186141181C>G	(Likely) benign	1 lab	c8076164d4
4:114279996 ANK2 C>T	4	114279996	114279996	C	T	ANK2	c.10222C>T	NM_001148.6	NP_001139.3:p.(Arg3408Ter)	NC_000004.11:g.114279996C>T	(Likely) pathogenic	1 lab	c80959d653
6:73332000 KCNQ5 G>A	6	73332000	73332000	G	A	KCNQ5	c.83G>A	NM_019842.4	NP_062816.2:p.(Gly28Asp)	NC_000006.11:g.73332000G>A	VUS	1 lab	c8098ebb4e
3:53265467 TKT T>A	3	53265467	53265467	T	A	TKT	c.848A>T	NM_001064.4	NP_001055.1:p.(Lys283Met)	NC_000003.11:g.53265467T>A	VUS	1 lab	c809bcf07e
19:33892753 PEPD A>T	19	33892753	33892753	A	T	PEPD	c.841T>A	NM_000285.4	NP_000276.2:p.(Tyr281Asn)	NC_000019.9:g.33892753A>T	VUS	1 lab	c809eece18
X:76872076 ATRX T>G	X	76872076	76872076	T	G	ATRX	c.5566+5A>C	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76872076T>G	VUS	1 lab	c80c3c8268
18:2606422 NDC80 A>AATGAT	18	2606422	2606428	A	AATGAT	NDC80	c.1475_1479dup	NM_006101.3	NP_006092.1:p.(Thr494Ter)	NC_000018.9:g.2606424_2606428dup	VUS	1 lab	c80df161da
11:64460333 NRXN2 G>A	11	64460333	64460333	G	A	NRXN2	c.764C>T	NM_015080.4	NP_055895.1:p.(Thr255Met)	NC_000011.9:g.64460333G>A	VUS	1 lab	c810b2263a
5:176729736 RAB24 ACCC>A	5	176729736	176729748	ACCC	A	RAB24	c.265+14_265+16del	NM_001031677.4	NP_001026847.1:p.?	NC_000005.9:g.176729746_176729748del	(Likely) benign	1 lab	c8118eafc3
7:152078446 KMT2C G>A	7	152078446	152078446	G	A	KMT2C	c.162-22686C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152078446G>A	(Likely) benign	1 lab	c812d14be4
1:1226630 SCNN1D G>A	1	1226630	1226630	G	A	SCNN1D	c.2053-4G>A	NM_001130413.4	NP_001123885.2:p.?	NC_000001.10:g.1226630G>A	(Likely) benign	1 lab	c812f02af3
5:79855228 ANKRD34B G>A	5	79855228	79855228	G	A	ANKRD34B	c.611C>T	NM_001004441.3	NP_001004441.2:p.(Thr204Met)	NC_000005.9:g.79855228G>A	(Likely) benign	1 lab	c81336c47c
16:2156899 PKD1 G>A	16	2156899	2156899	G	A	PKD1	c.7116C>T	NM_001009944.3	NP_001009944.3:p.(Ser2372=)	NC_000016.9:g.2156899G>A	(Likely) benign	1 lab	c8146a05b2
20:6759041 BMP2 A>G	20	6759041	6759041	A	G	BMP2	c.496A>G	NM_001200.4	NP_001191.1:p.(Ser166Gly)	NC_000020.10:g.6759041A>G	(Likely) benign	1 lab	c814e88eb8
1:19486775 UBR4 C>A	1	19486775	19486775	C	A	UBR4	c.5407G>T	NM_020765.3	NP_065816.2:p.(Ala1803Ser)	NC_000001.10:g.19486775C>A	VUS	1 lab	c81584427c
20:40050491 CHD6 C>T	20	40050491	40050491	C	T	CHD6	c.4784G>A	NM_032221.5	NP_115597.3:p.(Arg1595His)	NC_000020.10:g.40050491C>T	VUS	1 lab	c81762f637
4:3240564 HTT G>A	4	3240564	3240564	G	A	HTT	c.9074G>A	NM_001388492.1	NP_001375421.1:p.(Ser3025Asn)	NC_000004.11:g.3240564G>A	(Likely) benign	1 lab	c8185e2441
4:103808509 CISD2 C>T	4	103808509	103808509	C	T	CISD2	c.330C>T	NM_001008388.5	NP_001008389.1:p.(Cys110=)	NC_000004.11:g.103808509C>T	(Likely) benign	1 lab	c81925fd9e
3:101568755 NFKBIZ C>A	3	101568755	101568755	C	A	NFKBIZ	c.283C>A	NM_031419.4	NP_113607.1:p.(Gln95Lys)	NC_000003.11:g.101568755C>A	(Likely) benign	1 lab	c81aaec9b5
5:36985620 NIPBL T>G	5	36985620	36985620	T	G	NIPBL	c.2338T>G	NM_133433.4	NP_597677.2:p.(Ser780Ala)	NC_000005.9:g.36985620T>G	VUS	1 lab	c89082f4f2
X:76806933 ATRX T>C	X	76806933	76806933	T	C	ATRX	c.6699+5989A>G	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76806933T>C	(Likely) benign	1 lab	c81b6dd12c
6:91254351 MAP3K7 G>A	6	91254351	91254351	G	A	MAP3K7	c.1211C>T	NM_145331.3	NP_663304.1:p.(Ala404Val)	NC_000006.11:g.91254351G>A	(Likely) benign	1 lab	c81c0c9481
20:34800243 EPB41L1 A>G	20	34800243	34800243	A	G	EPB41L1	c.2129A>G	NM_012156.2	NP_036288.2:p.(Lys710Arg)	NC_000020.10:g.34800243A>G	VUS	1 lab	c81d3366b8
15:64005778 HERC1 G>A	15	64005778	64005778	G	A	HERC1	c.4237C>T	NM_003922.4	NP_003913.3:p.(Arg1413Ter)	NC_000015.9:g.64005778G>A	(Likely) pathogenic	1 lab	c81e1a4a76
10:123286234 FGFR2 C>A	10	123286234	123286234	C	A	FGFR2	c.749-6551G>T	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123286234C>A	VUS	1 lab	c81e334366
13:25486757 CPAP C>A	13	25486757	25486757	C	A	CPAP	c.407G>T	NM_018451.5	NP_060921.3:p.(Gly136Val)	NC_000013.10:g.25486757C>A	(Likely) benign	1 lab	c81e72828a
6:41874904 MED20 G>A	6	41874904	41874904	G	A	MED20	c.545C>T	NM_004275.5	NP_004266.2:p.(Ala182Val)	NC_000006.11:g.41874904G>A	VUS	1 lab	c81fc67510
12:120150024 CIT C>T	12	120150024	120150024	C	T	CIT	c.4813G>A	NM_001206999.2	NP_001193928.1:p.(Ala1605Thr)	NC_000012.11:g.120150024C>T	VUS	1 lab	c820d56d2d
2:48030830 MSH6 T>C	2	48030830	48030830	T	C	MSH6	c.3438+6T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48030830T>C	VUS	1 lab	c820f51951
1:33998688 CSMD2 G>A	1	33998688	33998688	G	A	CSMD2	c.10133C>T	NM_001281956.2	NP_001268885.1:p.(Ala3378Val)	NC_000001.10:g.33998688G>A	VUS	1 lab	c82145dee8
8:10465962 RP1L1 C>A	8	10465962	10465962	C	A	RP1L1	c.5646G>T	NM_178857.6	NP_849188.4:p.(Glu1882Asp)	NC_000008.10:g.10465962C>A	(Likely) benign	1 lab	c8216e082c
5:14363929 TRIO G>A	5	14363929	14363929	G	A	TRIO	c.2480G>A	NM_007118.4	NP_009049.2:p.(Arg827His)	NC_000005.9:g.14363929G>A	(Likely) benign	1 lab	c821e88a25
10:124266905 HTRA1 C>T	10	124266905	124266905	C	T	HTRA1	c.992C>T	NM_002775.5	NP_002766.1:p.(Pro331Leu)	NC_000010.10:g.124266905C>T	VUS	1 lab	c8237d7a3d
17:11757411 DNAH9 G>A	17	11757411	11757411	G	A	DNAH9	c.9599G>A	NM_001372.4	NP_001363.2:p.(Gly3200Asp)	NC_000017.10:g.11757411G>A	VUS	1 lab	c82452cbae
6:110086271 FIG4 A>T	6	110086271	110086271	A	T	FIG4	c.1490A>T	NM_014845.6	NP_055660.1:p.(Gln497Leu)	NC_000006.11:g.110086271A>T	VUS	1 lab	c82a3e530d
8:61741306 CHD7 C>T	8	61741306	61741306	C	T	CHD7	c.3463C>T	NM_017780.4	NP_060250.2:p.(Arg1155Cys)	NC_000008.10:g.61741306C>T	(Likely) benign	1 lab	c82b920f21
20:47989527 KCNB1 C>T	20	47989527	47989527	C	T	KCNB1	c.2570G>A	NM_004975.4	NP_004966.1:p.(Ser857Asn)	NC_000020.10:g.47989527C>T	(Likely) benign	1 lab	c82bdc8dc9
15:34112977 RYR3 TGAA>T	15	34112977	34112988	TGAA	T	RYR3	c.10788_10790del	NM_001036.6	NP_001027.3:p.(Glu3596del)	NC_000015.9:g.34112986_34112988del	VUS	1 lab	c82ce02db0
19:41838184 TGFB1 G>A	19	41838184	41838184	G	A	TGFB1	c.863C>T	NM_000660.7	NP_000651.3:p.(Ser288Phe)	NC_000019.9:g.41838184G>A	VUS	1 lab	c83087554c
14:36158540 RALGAPA1 T>A	14	36158540	36158540	T	A	RALGAPA1	c.3077A>T	NM_001346249.2	NP_001333178.1:p.(Asp1026Val)	NC_000014.8:g.36158540T>A	VUS	1 lab	c830b10638
14:75515125 MLH3 T>C	14	75515125	75515125	T	C	MLH3	c.1234A>G	NM_001040108.2	NP_001035197.1:p.(Lys412Glu)	NC_000014.8:g.75515125T>C	VUS	1 lab	c830c4f08b
12:111652089 CUX2 G>A	12	111652089	111652089	G	A	CUX2	c.149G>A	NM_015267.4	NP_056082.2:p.(Arg50Gln)	NC_000012.11:g.111652089G>A	(Likely) benign	1 lab	c836d8e2e7
16:1813669 MAPK8IP3 C>T	16	1813669	1813669	C	T	MAPK8IP3	c.1910C>T	NM_001318852.2	NP_001305781.1:p.(Ser637Phe)	NC_000016.9:g.1813669C>T	VUS	1 lab	c83996126a
1:152280491 FLG C>T	1	152280491	152280491	C	T	FLG	c.6871G>A	NM_002016.2	NP_002007.1:p.(Gly2291Ser)	NC_000001.10:g.152280491C>T	(Likely) benign	1 lab	c83d1b166b
X:48270249 SSX4B G>A	X	48270249	48270249	G	A	SSX4B	c.128C>T	NM_001034832.5	NP_001030004.1:p.(Ser43Leu)	NC_000023.10:g.48270249G>A	(Likely) benign	1 lab	c83d8f884c
1:16918486 NBPF1 C>T	1	16918486	16918486	C	T	NBPF1	c.31G>A	NM_001405666.3	NP_001392595.1:p.(Glu11Lys)	NC_000001.10:g.16918486C>T	(Likely) benign	1 lab	c83f3038b3
3:33055615 GLB1 A>G	3	33055615	33055615	A	G	GLB1	c.1667T>C	NM_000404.4	NP_000395.3:p.(Phe556Ser)	NC_000003.11:g.33055615A>G	VUS	1 lab	c83fed7559
14:21831045 SUPT16H G>A	14	21831045	21831045	G	A	SUPT16H	c.1573C>T	NM_007192.4	NP_009123.1:p.(Arg525Trp)	NC_000014.8:g.21831045G>A	VUS	1 lab	c84010cfe2
4:1804784 FGFR3 C>T	4	1804784	1804784	C	T	FGFR3	c.931-635C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804784C>T	(Likely) benign	1 lab	c84123233b
12:7084877 EMG1 A>G	12	7084877	7084877	A	G	EMG1	c.641A>G	NM_006331.8	NP_006322.4:p.(Glu214Gly)	NC_000012.11:g.7084877A>G	VUS	1 lab	c841fb62ab
12:121431966 HNF1A G>A	12	121431966	121431966	G	A	HNF1A	c.714-1G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121431966G>A	(Likely) pathogenic	1 lab	c8427476c2
18:77496482 CTDP1 C>T	18	77496482	77496482	C	T	CTDP1	c.2708C>T	NM_004715.5	NP_004706.3:p.(Ala903Val)	NC_000018.9:g.77496482C>T	VUS	1 lab	c843085657
19:42795495 CIC A>G	19	42795495	42795495	A	G	CIC	c.5302A>G	NM_001386298.1	NP_001373227.1:p.(Thr1768Ala)	NC_000019.9:g.42795495A>G	(Likely) benign	1 lab	c843b45bfd
21:47766750 PCNT GAGA>G	21	47766750	47766755	GAGA	G	PCNT	c.817_819del	NM_006031.6	NP_006022.3:p.(Lys273del)	NC_000021.8:g.47766753_47766755del	VUS	1 lab	c843de4b53
7:5568132 ACTB G>A	7	5568132	5568132	G	A	ACTB	c.582C>T	NM_001101.5	NP_001092.1:p.(Thr194=)	NC_000007.13:g.5568132G>A	(Likely) benign	1 lab	c845007230
12:107144486 RFX4 T>G	12	107144486	107144486	T	G	RFX4	c.1850T>G	NM_213594.3	NP_998759.1:p.(Met617Arg)	NC_000012.11:g.107144486T>G	VUS	1 lab	c845ae27a0
3:176765184 TBL1XR1 AC>A	3	176765184	176765186	AC	A	TBL1XR1	c.767del	NM_024665.7	NP_078941.2:p.(Gly256ValfsTer7)	NC_000003.11:g.176765186del	(Likely) pathogenic	1 lab	c846873c32
5:38530726 LIFR CA>C	5	38530726	38530729	CA	C	LIFR	c.23del	NM_001127671.2	NP_001121143.1:p.(Leu8Ter)	NC_000005.9:g.38530729del	(Likely) pathogenic	1 lab	c8472ce409
4:996919 IDUA C>G	4	996919	996919	C	G	IDUA	c.1498C>G	NM_000203.5	NP_000194.2:p.(Gln500Glu)	NC_000004.11:g.996919C>G	VUS	1 lab	c849123f67
11:103027292 DYNC2H1 G>A	11	103027292	103027292	G	A	DYNC2H1	c.3920G>A	NM_001377.3	NP_001368.2:p.(Cys1307Tyr)	NC_000011.9:g.103027292G>A	VUS	1 lab	c849dade35
3:39431092 SLC25A38 A>G	3	39431092	39431092	A	G	SLC25A38	c.176A>G	NM_017875.4	NP_060345.2:p.(Gln59Arg)	NC_000003.11:g.39431092A>G	VUS	1 lab	c849e47e98
15:48766500 FBN1 G>A	15	48766500	48766500	G	A	FBN1	c.4162C>T	NM_000138.5	NP_000129.3:p.(Arg1388Cys)	NC_000015.9:g.48766500G>A	(Likely) pathogenic	1 lab	c84cea553a
13:115089355 CHAMP1 G>A	13	115089355	115089355	G	A	CHAMP1	c.38G>A	NM_032436.4	NP_115812.1:p.(Arg13His)	NC_000013.10:g.115089355G>A	VUS	1 lab	c84d7f9fa0
X:46332288 KRABD4 C>A	X	46332288	46332288	C	A	KRABD4	c.357C>A	NM_001129898.2	NP_001123370.1:p.(Ser119Arg)	NC_000023.10:g.46332288C>A	(Likely) benign	1 lab	c84d80ea14
X:3240238 MXRA5 C>T	X	3240238	3240238	C	T	MXRA5	c.3488G>A	NM_015419.4	NP_056234.2:p.(Arg1163His)	NC_000023.10:g.3240238C>T	(Likely) benign	1 lab	c84d8a2de4
20:60884827 LAMA5 G>A	20	60884827	60884827	G	A	LAMA5	c.10893C>T	NM_005560.6	NP_005551.3:p.(Pro3631=)	NC_000020.10:g.60884827G>A	(Likely) benign	1 lab	c84db2d9ee
17:7751128 KDM6B A>C	17	7751128	7751128	A	C	KDM6B	c.1522A>C	NM_001348716.2	NP_001335645.1:p.(Thr508Pro)	NC_000017.10:g.7751128A>C	(Likely) benign	1 lab	c84e3fef89
17:33460501 NLE1 G>A	17	33460501	33460501	G	A	NLE1	c.1231C>T	NM_018096.5	NP_060566.2:p.(Arg411Cys)	NC_000017.10:g.33460501G>A	VUS	1 lab	c8500f119d
5:60831340 ZSWIM6 A>G	5	60831340	60831340	A	G	ZSWIM6	c.2275A>G	NM_020928.2	NP_065979.1:p.(Ile759Val)	NC_000005.9:g.60831340A>G	(Likely) benign	1 lab	c851a5d96f
20:37137860 RALGAPB A>G	20	37137860	37137860	A	G	RALGAPB	c.872+9A>G	NM_020336.4	NP_065069.1:p.?	NC_000020.10:g.37137860A>G	(Likely) benign	1 lab	c851b372fe
12:133253136 POLE C>T	12	133253136	133253136	C	T	POLE	c.905G>A	NM_006231.4	NP_006222.2:p.(Gly302Asp)	NC_000012.11:g.133253136C>T	VUS	1 lab	c852e44e65
19:14104411 RFX1 G>A	19	14104411	14104411	G	A	RFX1	c.245C>T	NM_002918.5	NP_002909.4:p.(Pro82Leu)	NC_000019.9:g.14104411G>A	(Likely) benign	1 lab	c853be3a1a
7:150700484 NOS3 G>A	7	150700484	150700484	G	A	NOS3	c.1752+1092G>A	NM_000603.5	NP_000594.2:p.?	NC_000007.13:g.150700484G>A	VUS	1 lab	c8542ae93a
7:151842383 KMT2C G>A	7	151842383	151842383	G	A	KMT2C	c.14032-3C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151842383G>A	(Likely) benign	1 lab	c85643bd63
2:71755471 DYSF C>T	2	71755471	71755471	C	T	DYSF	c.1320C>T	NM_001130987.2	NP_001124459.1:p.(Phe440=)	NC_000002.11:g.71755471C>T	(Likely) benign	1 lab	c856645f83
17:7840065 CNTROB G>A	17	7840065	7840065	G	A	CNTROB	c.758G>A	NM_053051.5	NP_444279.2:p.(Arg253Gln)	NC_000017.10:g.7840065G>A	VUS	1 lab	c8568001a5
16:89354926 ANKRD11 G>T	16	89354926	89354926	G	T	ANKRD11	c.744+10C>A	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89354926G>T	(Likely) benign	1 lab	c857081d79
17:10298623 MYH8 C>G	17	10298623	10298623	C	G	MYH8	c.4789G>C	NM_002472.3	NP_002463.2:p.(Val1597Leu)	NC_000017.10:g.10298623C>G	(Likely) benign	1 lab	c85813f9fe
8:143961092 CYP11B1 G>A	8	143961092	143961092	G	A	CYP11B1	c.138C>T	NM_000497.4	NP_000488.3:p.(Gly46=)	NC_000008.10:g.143961092G>A	VUS	1 lab	c85a573ca5
14:23345340 LRP10 C>T	14	23345340	23345340	C	T	LRP10	c.1183C>T	NM_014045.5	NP_054764.2:p.(Arg395Cys)	NC_000014.8:g.23345340C>T	VUS	1 lab	c85b684062
16:22545127 NPIPB5 C>A	16	22545127	22545127	C	A	NPIPB5	c.823C>A	NM_001395849.1	NP_001382778.1:p.(Pro275Thr)	NC_000016.9:g.22545127C>A	(Likely) benign	1 lab	c85b6f45b1
17:10222462 MYH13 G>A	17	10222462	10222462	G	A	MYH13	c.3383C>T	NM_003802.3	NP_003793.2:p.(Ala1128Val)	NC_000017.10:g.10222462G>A	(Likely) benign	1 lab	c85b764130
10:97413134 ALDH18A1 T>C	10	97413134	97413134	T	C	ALDH18A1	c.1A>G	NM_002860.4	NP_002851.2:p.(Met1?)	NC_000010.10:g.97413134T>C	VUS	1 lab	c85b8b15de
1:9791952 CLSTN1 C>T	1	9791952	9791952	C	T	CLSTN1	c.2430G>A	NM_001009566.3	NP_001009566.1:p.(Val810=)	NC_000001.10:g.9791952C>T	(Likely) benign	1 lab	c85c56fecd
1:8418823 RERE C>T	1	8418823	8418823	C	T	RERE	c.3772G>A	NM_001042681.2	NP_001036146.1:p.(Glu1258Lys)	NC_000001.10:g.8418823C>T	VUS	1 lab	c85d63b231
10:79603415 DLG5 G>A	10	79603415	79603415	G	A	DLG5	c.914C>T	NM_004747.4	NP_004738.3:p.(Thr305Met)	NC_000010.10:g.79603415G>A	VUS	1 lab	c85e25f30a
19:1106532 GPX4 C>G	19	1106532	1106532	C	G	GPX4	c.562-7C>G	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1106532C>G	(Likely) benign	1 lab	c85f2ff580
12:20769270 PDE3A G>A	12	20769270	20769270	G	A	PDE3A	c.1376G>A	NM_000921.5	NP_000912.3:p.(Arg459Gln)	NC_000012.11:g.20769270G>A	(Likely) benign	1 lab	c85f8c0e87
8:116426793 TRPS1 T>C	8	116426793	116426793	T	C	TRPS1	c.3343A>G	NM_014112.5	NP_054831.2:p.(Asn1115Asp)	NC_000008.10:g.116426793T>C	VUS	1 lab	c860338e98
17:10304089 MYH8 A>G	17	10304089	10304089	A	G	MYH8	c.3353T>C	NM_002472.3	NP_002463.2:p.(Ile1118Thr)	NC_000017.10:g.10304089A>G	VUS	1 lab	c86285bc8d
19:36211418 KMT2B T>C	19	36211418	36211418	T	C	KMT2B	c.1169T>C	NM_014727.3	NP_055542.1:p.(Met390Thr)	NC_000019.9:g.36211418T>C	(Likely) benign	1 lab	c863d8c861
7:107564452 LAMB1 G>A	7	107564452	107564452	G	A	LAMB1	c.5305C>T	NM_002291.3	NP_002282.2:p.(Arg1769Cys)	NC_000007.13:g.107564452G>A	VUS	1 lab	c864519841
4:3076662 HTT A>AGC	4	3076662	3076663	A	AGC	HTT	c.110_111insGC	NM_001388492.1	NP_001375421.1:p.(Gln38HisfsTer64)	NC_000004.11:g.3076662_3076663insGC	VUS	1 lab	c864c1e888
17:61995414 GH1 G>A	17	61995414	61995414	G	A	GH1	c.254C>T	NM_000515.5	NP_000506.2:p.(Pro85Leu)	NC_000017.10:g.61995414G>A	(Likely) pathogenic	1 lab	c867514a51
19:4512169 PLIN4 C>G	19	4512169	4512169	C	G	PLIN4	c.1803G>C	NM_001367868.2	NP_001354797.1:p.(Val601=)	NC_000019.9:g.4512169C>G	(Likely) benign	1 lab	c867e3fc63
1:36501824 AGO3 A>C	1	36501824	36501824	A	C	AGO3	c.1798A>C	NM_024852.4	NP_079128.2:p.(Thr600Pro)	NC_000001.10:g.36501824A>C	VUS	1 lab	c867ec01cf
4:1918645 NSD2 G>A	4	1918645	1918645	G	A	NSD2	c.808G>A	NM_001042424.3	NP_001035889.1:p.(Ala270Thr)	NC_000004.11:g.1918645G>A	VUS	1 lab	c868f283a0
X:3228028 MXRA5 G>T	X	3228028	3228028	G	T	MXRA5	c.8216C>A	NM_015419.4	NP_056234.2:p.(Pro2739His)	NC_000023.10:g.3228028G>T	VUS	1 lab	c86b1d4540
15:90213197 PLIN1 C>T	15	90213197	90213197	C	T	PLIN1	c.598+14G>A	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90213197C>T	(Likely) benign	1 lab	c86b8c6314
5:176675236 NSD1 G>A	5	176675236	176675236	G	A	NSD1	c.4552G>A	NM_022455.5	NP_071900.2:p.(Gly1518Ser)	NC_000005.9:g.176675236G>A	VUS	1 lab	c86c81dbce
19:7694746 PET100 G>A	19	7694746	7694746	G	A	PET100	c.27G>A	NM_001171155.2	NP_001164626.1:p.(Arg9=)	NC_000019.9:g.7694746G>A	(Likely) benign	1 lab	c86de146b7
X:66766232 AR A>G	X	66766232	66766232	A	G	AR	c.1244A>G	NM_000044.6	NP_000035.2:p.(His415Arg)	NC_000023.10:g.66766232A>G	(Likely) benign	1 lab	c86e17f491
5:180035167 FLT4 G>A	5	180035167	180035167	G	A	FLT4	c.3893+801C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180035167G>A	(Likely) benign	1 lab	c8710b8dab
7:100638708 MUC12 A>G	7	100638708	100638708	A	G	MUC12	c.4864A>G	NM_001164462.2	NP_001157934.1:p.(Ser1622Gly)	NC_000007.13:g.100638708A>G	VUS	1 lab	c87190e025
7:74016722 GTF2IRD1 G>A	7	74016722	74016722	G	A	GTF2IRD1	c.2797G>A	NM_005685.4	NP_005676.3:p.(Gly933Ser)	NC_000007.13:g.74016722G>A	VUS	1 lab	c872f8bc98
3:105572318 CBLB C>T	3	105572318	105572318	C	T	CBLB	c.359G>A	NM_170662.5	NP_733762.2:p.(Arg120Gln)	NC_000003.11:g.105572318C>T	VUS	1 lab	c874eceae5
21:47817184 PCNT C>T	21	47817184	47817184	C	T	PCNT	c.4222C>T	NM_006031.6	NP_006022.3:p.(Arg1408Trp)	NC_000021.8:g.47817184C>T	(Likely) benign	1 lab	c875193d1d
2:230668773 TRIP12 T>C	2	230668773	230668773	T	C	TRIP12	c.2821A>G	NM_001348323.3	NP_001335252.1:p.(Ile941Val)	NC_000002.11:g.230668773T>C	(Likely) benign	1 lab	c875fc238a
2:157186410 NR4A2 T>C	2	157186410	157186410	T	C	NR4A2	c.289A>G	NM_006186.4	NP_006177.1:p.(Met97Val)	NC_000002.11:g.157186410T>C	(Likely) benign	1 lab	c87ad74e96
5:13891231 DNAH5 CT>C	5	13891231	13891234	CT	C	DNAH5	c.2432-2del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13891234del	(Likely) benign	1 lab	c87bc4209a
6:132859716 TAAR9 C>G	6	132859716	132859716	C	G	TAAR9	c.288C>G	NM_175057.4	NP_778227.3:p.(Ser96Arg)	NC_000006.11:g.132859716C>G	VUS	1 lab	c87c2217c8
2:179438093 TTN T>G	2	179438093	179438093	T	G	TTN	c.45946A>C	NM_133432.3	NP_597676.3:p.(Asn15316His)	NC_000002.11:g.179438093T>G	VUS	1 lab	2cd066853e
14:29236626 FOXG1 C>G	14	29236626	29236626	C	G	FOXG1	c.141C>G	NM_005249.5	NP_005240.3:p.(His47Gln)	NC_000014.8:g.29236626C>G	VUS	1 lab	c886d26e91
18:44101070 LOXHD1 A>G	18	44101070	44101070	A	G	LOXHD1	c.5261T>C	NM_001384474.1	NP_001371403.1:p.(Ile1754Thr)	NC_000018.9:g.44101070A>G	VUS	1 lab	c87f534d75
9:14784778 FREM1 T>G	9	14784778	14784778	T	G	FREM1	c.4178-146A>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14784778T>G	(Likely) benign	1 lab	2cd07f6db9
16:2812048 SRRM2 C>G	16	2812048	2812048	C	G	SRRM2	c.1519C>G	NM_016333.4	NP_057417.3:p.(Arg507Gly)	NC_000016.9:g.2812048C>G	VUS	1 lab	c880556343
12:111080125 TCTN1 G>A	12	111080125	111080125	G	A	TCTN1	c.1262G>A	NM_001082538.3	NP_001076007.1:p.(Cys421Tyr)	NC_000012.11:g.111080125G>A	VUS	1 lab	c880bcf36d
7:151917817 KMT2C G>A	7	151917817	151917817	G	A	KMT2C	c.3503C>T	NM_170606.3	NP_733751.2:p.(Pro1168Leu)	NC_000007.13:g.151917817G>A	(Likely) benign	1 lab	c880c2f0d9
5:37213811 CPLANE1 A>T	5	37213811	37213811	A	T	CPLANE1	c.2770T>A	NM_001384732.1	NP_001371661.1:p.(Cys924Ser)	NC_000005.9:g.37213811A>T	VUS	1 lab	c8820bbb01
12:58158587 CYP27B1 G>A	12	58158587	58158587	G	A	CYP27B1	c.913C>T	NM_000785.4	NP_000776.1:p.(Gln305Ter)	NC_000012.11:g.58158587G>A	VUS	1 lab	c882569acb
14:81251714 CEP128 A>C	14	81251714	81251714	A	C	CEP128	c.1736T>G	NM_152446.5	NP_689659.2:p.(Leu579Trp)	NC_000014.8:g.81251714A>C	VUS	1 lab	c883132e2e
6:38705033 DNAH8 G>GT	6	38705033	38705034	G	GT	DNAH8	c.952+2dup	NM_001206927.2	NP_001193856.1:p.?	NC_000006.11:g.38705034dup	VUS	1 lab	c88350226e
1:3672082 CCDC27 C>T	1	3672082	3672082	C	T	CCDC27	c.504C>T	NM_152492.3	NP_689705.2:p.(Gly168=)	NC_000001.10:g.3672082C>T	VUS	1 lab	c883efd505
12:122295664 HPD T>C	12	122295664	122295664	T	C	HPD	c.92A>G	NM_002150.3	NP_002141.2:p.(Gln31Arg)	NC_000012.11:g.122295664T>C	VUS	1 lab	c884a36edd
16:70292956 AARS1 G>T	16	70292956	70292956	G	T	AARS1	c.1919C>A	NM_001605.3	NP_001596.2:p.(Ala640Asp)	NC_000016.9:g.70292956G>T	VUS	1 lab	c884f7e8ce
2:88890331 EIF2AK3 G>C	2	88890331	88890331	G	C	EIF2AK3	c.1002+5C>G	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88890331G>C	(Likely) benign	1 lab	c8850530b8
9:33465784 NOL6 G>A	9	33465784	33465784	G	A	NOL6	c.2476C>T	NM_022917.5	NP_075068.2:p.(Arg826Cys)	NC_000009.11:g.33465784G>A	VUS	1 lab	c88a05f305
11:75282891 SERPINH1 G>A	11	75282891	75282891	G	A	SERPINH1	c.1020G>A	NM_001235.5	NP_001226.2:p.(Met340Ile)	NC_000011.9:g.75282891G>A	(Likely) benign	1 lab	c88a0bc725
5:156817392 CYFIP2 C>T	5	156817392	156817392	C	T	CYFIP2	c.3447-137C>T	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156817392C>T	(Likely) benign	1 lab	c88aa5aef6
16:3729770 TRAP1 G>C	16	3729770	3729770	G	C	TRAP1	c.493C>G	NM_016292.3	NP_057376.2:p.(Gln165Glu)	NC_000016.9:g.3729770G>C	VUS	1 lab	c88b39bca1
X:32360240 DMD G>A	X	32360240	32360240	G	A	DMD	c.5899C>T	NM_004006.3	NP_003997.2:p.(Arg1967Ter)	NC_000023.10:g.32360240G>A	(Likely) pathogenic	1 lab	c88c683eff
21:47407549 COL6A1 G>A	21	47407549	47407549	G	A	COL6A1	c.785G>A	NM_001848.3	NP_001839.2:p.(Arg262Gln)	NC_000021.8:g.47407549G>A	(Likely) benign	1 lab	c88d8e8423
5:180038439 FLT4 C>A	5	180038439	180038439	C	A	FLT4	c.3578G>T	NM_182925.5	NP_891555.2:p.(Ser1193Ile)	NC_000005.9:g.180038439C>A	VUS	1 lab	c88f38d094
2:109357079 RANBP2 A>G	2	109357079	109357079	A	G	RANBP2	c.917A>G	NM_006267.5	NP_006258.3:p.(Asn306Ser)	NC_000002.11:g.109357079A>G	(Likely) benign	1 lab	c88f969b6e
7:144069777 ARHGEF5 A>G	7	144069777	144069777	A	G	ARHGEF5	c.3977A>G	NM_005435.4	NP_005426.2:p.(Asn1326Ser)	NC_000007.13:g.144069777A>G	VUS	1 lab	c8907596d9
1:7683817 CAMTA1 C>T	1	7683817	7683817	C	T	CAMTA1	c.511-16643C>T	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7683817C>T	(Likely) benign	1 lab	c891733c71
1:156104740 LMNA G>A	1	156104740	156104740	G	A	LMNA	c.784G>A	NM_170707.4	NP_733821.1:p.(Glu262Lys)	NC_000001.10:g.156104740G>A	(Likely) pathogenic	1 lab	c89249182a
15:26866566 GABRB3 G>T	15	26866566	26866566	G	T	GABRB3	c.356C>A	NM_000814.6	NP_000805.1:p.(Pro119His)	NC_000015.9:g.26866566G>T	VUS	1 lab	c892645d5c
5:149433748 CSF1R T>TGCCACC	5	149433748	149433756	T	TGCCACC	CSF1R	c.2797_2802dup	NM_001288705.3	NP_001275634.1:p.(Gly933_Gly934dup)	NC_000005.9:g.149433751_149433756dup	(Likely) benign	1 lab	c8928062ff
19:619975 POLRMT TG>T	19	619975	619976	TG	T	POLRMT	c.2868del	NM_005035.4	NP_005026.3:p.(Tyr956Ter)	NC_000019.9:g.619976del	VUS	1 lab	c892b3094a
3:182740279 MCCC1 T>C	3	182740279	182740279	T	C	MCCC1	c.1795A>G	NM_020166.5	NP_064551.3:p.(Lys599Glu)	NC_000003.11:g.182740279T>C	(Likely) benign	1 lab	c89fff6af4
6:131923400 MED23 G>A	6	131923400	131923400	G	A	MED23	c.2053C>T	NM_004830.4	NP_004821.2:p.(Arg685Ter)	NC_000006.11:g.131923400G>A	VUS	1 lab	c8946981e9
7:70254826 AUTS2 A>G	7	70254826	70254826	A	G	AUTS2	c.2624A>G	NM_015570.4	NP_056385.1:p.(Gln875Arg)	NC_000007.13:g.70254826A>G	(Likely) benign	1 lab	c89649986d
16:23421646 COG7 C>T	16	23421646	23421646	C	T	COG7	c.1445G>A	NM_153603.4	NP_705831.1:p.(Cys482Tyr)	NC_000016.9:g.23421646C>T	VUS	1 lab	c897f7bb84
14:94780963 SERPINA6 C>A	14	94780963	94780963	C	A	SERPINA6	c.23G>T	NM_001756.4	NP_001747.3:p.(Cys8Phe)	NC_000014.8:g.94780963C>A	(Likely) benign	1 lab	c898893c98
15:41102136 ZFYVE19 G>A	15	41102136	41102136	G	A	ZFYVE19	c.539G>A	NM_001077268.2	NP_001070736.1:p.(Arg180His)	NC_000015.9:g.41102136G>A	VUS	1 lab	c898e69a3a
19:43016589 CEACAM1 A>G	19	43016589	43016589	A	G	CEACAM1	c.1289T>C	NM_001712.5	NP_001703.2:p.(Ile430Thr)	NC_000019.9:g.43016589A>G	(Likely) benign	1 lab	c89a42c76b
6:33166101 RXRB G>A	6	33166101	33166101	G	A	RXRB	c.624C>T	NM_021976.5	NP_068811.1:p.(Cys208=)	NC_000006.11:g.33166101G>A	(Likely) benign	1 lab	c89a9f0f60
X:3240619 MXRA5 C>G	X	3240619	3240619	C	G	MXRA5	c.3107G>C	NM_015419.4	NP_056234.2:p.(Gly1036Ala)	NC_000023.10:g.3240619C>G	(Likely) benign	1 lab	c89b940c38
2:179664231 TTN C>T	2	179664231	179664231	C	T	TTN	c.897G>A	NM_001267550.2	NP_001254479.2:p.(Pro299=)	NC_000002.11:g.179664231C>T	(Likely) benign	1 lab	c89d02c7e5
12:66638900 IRAK3 T>C	12	66638900	66638900	T	C	IRAK3	c.1172T>C	NM_007199.3	NP_009130.2:p.(Met391Thr)	NC_000012.11:g.66638900T>C	VUS	1 lab	c89db7fa4f
17:10549042 MYH3 C>T	17	10549042	10549042	C	T	MYH3	c.1123G>A	NM_002470.4	NP_002461.2:p.(Glu375Lys)	NC_000017.10:g.10549042C>T	(Likely) pathogenic	1 lab	c89dd9b87e
7:70800612 GALNT17 G>A	7	70800612	70800612	G	A	GALNT17	c.315G>A	NM_022479.3	NP_071924.1:p.(Pro105=)	NC_000007.13:g.70800612G>A	(Likely) benign	1 lab	c89e5a7883
1:229599414 NUP133 C>T	1	229599414	229599414	C	T	NUP133	c.2561G>A	NM_018230.3	NP_060700.2:p.(Gly854Asp)	NC_000001.10:g.229599414C>T	(Likely) benign	1 lab	c89e8098ce
10:124221201 HTRA1 G>GT	10	124221201	124221202	G	GT	HTRA1	c.33_34insT	NM_002775.5	NP_002766.1:p.(Leu12SerfsTer157)	NC_000010.10:g.124221201_124221202insT	(Likely) benign	1 lab	c8a023d633
15:66782894 MAP2K1 C>A	15	66782894	66782894	C	A	MAP2K1	c.1123C>A	NM_002755.4	NP_002746.1:p.(Leu375Ile)	NC_000015.9:g.66782894C>A	(Likely) benign	1 lab	c8a0b70616
2:197735679 PGAP1 G>C	2	197735679	197735679	G	C	PGAP1	c.1753C>G	NM_024989.4	NP_079265.2:p.(Gln585Glu)	NC_000002.11:g.197735679G>C	(Likely) benign	1 lab	c8a0eb5047
3:25761112 NGLY1 A>G	3	25761112	25761112	A	G	NGLY1	c.1804T>C	NM_018297.4	NP_060767.2:p.(Ser602Pro)	NC_000003.11:g.25761112A>G	VUS	1 lab	c8a150b887
19:22941587 ZNF99 C>T	19	22941587	22941587	C	T	ZNF99	c.1124G>A	NM_001080409.3	NP_001073878.2:p.(Gly375Asp)	NC_000019.9:g.22941587C>T	(Likely) benign	1 lab	c8a6380ea3
15:90192355 KIF7 C>T	15	90192355	90192355	C	T	KIF7	c.773G>A	NM_198525.3	NP_940927.2:p.(Arg258Lys)	NC_000015.9:g.90192355C>T	VUS	1 lab	c8a84877f1
14:105416363 AHNAK2 G>T	14	105416363	105416363	G	T	AHNAK2	c.5425C>A	NM_138420.4	NP_612429.2:p.(Leu1809Met)	NC_000014.8:g.105416363G>T	(Likely) benign	1 lab	c8a9c14ebd
5:149433973 CSF1R C>T	5	149433973	149433973	C	T	CSF1R	c.2675G>A	NM_001288705.3	NP_001275634.1:p.(Cys892Tyr)	NC_000005.9:g.149433973C>T	VUS	1 lab	c8aa143ef2
16:88782778 PIEZO1 T>G	16	88782778	88782778	T	G	PIEZO1	c.7040A>C	NM_001142864.4	NP_001136336.2:p.(Asp2347Ala)	NC_000016.9:g.88782778T>G	(Likely) benign	1 lab	c8aa824383
5:36115211 LMBRD2 C>T	5	36115211	36115211	C	T	LMBRD2	c.1448G>A	NM_001007527.2	NP_001007528.1:p.(Arg483His)	NC_000005.9:g.36115211C>T	(Likely) pathogenic	1 lab	c8aaeb644b
2:238275682 COL6A3 G>A	2	238275682	238275682	G	A	COL6A3	c.5148C>T	NM_004369.4	NP_004360.2:p.(His1716=)	NC_000002.11:g.238275682G>A	(Likely) benign	1 lab	c8abc022a1
9:34306279 KIF24 C>T	9	34306279	34306279	C	T	KIF24	c.784G>A	NM_194313.4	NP_919289.2:p.(Ala262Thr)	NC_000009.11:g.34306279C>T	VUS	1 lab	c8ac8f64f2
1:207651294 CR2 G>A	1	207651294	207651294	G	A	CR2	c.2967G>A	NM_001006658.3	NP_001006659.1:p.(Met989Ile)	NC_000001.10:g.207651294G>A	(Likely) benign	1 lab	c8af3f8380
14:50585575 SOS2 A>AC	14	50585575	50585576	A	AC	SOS2	c.3490-5_3490-4insG	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50585575_50585576insC	(Likely) benign	1 lab	c8afb888b1
12:56094139 ITGA7 C>A	12	56094139	56094139	C	A	ITGA7	c.671-366G>T	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56094139C>A	(Likely) benign	1 lab	c8afbcb15c
2:63661043 WDPCP T>C	2	63661043	63661043	T	C	WDPCP	c.661A>G	NM_015910.7	NP_056994.3:p.(Ile221Val)	NC_000002.11:g.63661043T>C	VUS	1 lab	c8d4e10056
2:29124973 WDR43 T>G	2	29124973	29124973	T	G	WDR43	c.346T>G	NM_015131.3	NP_055946.1:p.(Leu116Val)	NC_000002.11:g.29124973T>G	(Likely) benign	1 lab	c8b2328775
9:34242019 UBAP1 G>A	9	34242019	34242019	G	A	UBAP1	c.996G>A	NM_016525.5	NP_057609.2:p.(Met332Ile)	NC_000009.11:g.34242019G>A	(Likely) benign	1 lab	c8b2fcc853
15:42602576 GANC C>A	15	42602576	42602576	C	A	GANC	c.818C>A	NM_198141.3	NP_937784.2:p.(Ala273Asp)	NC_000015.9:g.42602576C>A	VUS	1 lab	c8b3addeb6
4:88537066 DSPP CAGTGAT>C	4	88537066	88537074	CAGTGAT	C	DSPP	c.3255_3260del	NM_014208.3	NP_055023.2:p.(Asp1086_Ser1087del)	NC_000004.11:g.88537069_88537074del	(Likely) benign	1 lab	c8b40c6258
6:16327930 ATXN1 C>A	6	16327930	16327930	C	A	ATXN1	c.612G>T	NM_001128164.2	NP_001121636.1:p.(Gln204His)	NC_000006.11:g.16327930C>A	(Likely) benign	1 lab	c8b4ea300a
17:80885203 TBCD C>T	17	80885203	80885203	C	T	TBCD	c.2609+4C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80885203C>T	VUS	1 lab	c8b5110239
2:88751700 FOXI3 AGGCGGGCGC>A	2	88751700	88751720	AGGCGGGCGC	A	FOXI3	c.346_354del	NM_001135649.3	NP_001129121.1:p.(Ala116_Ala118del)	NC_000002.11:g.88751712_88751720del	VUS	1 lab	c8b6786af3
17:3839733 ATP2A3 G>A	17	3839733	3839733	G	A	ATP2A3	c.2352C>T	NM_005173.4	NP_005164.2:p.(Pro784=)	NC_000017.10:g.3839733G>A	(Likely) benign	1 lab	c8b7ccb2af
22:32211371 DEPDC5 CTTTTTTTTTTTTTT>C	22	32211371	32211393	CTTTTTTTTTTTTTT	C	DEPDC5	c.1666+182_1666+195del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32211380_32211393del	(Likely) benign	1 lab	c8b80f4020
4:5691040 EVC2 G>A	4	5691040	5691040	G	A	EVC2	c.550C>T	NM_147127.5	NP_667338.3:p.(Arg184Cys)	NC_000004.11:g.5691040G>A	VUS	1 lab	c8b849c589
21:38878524 DYRK1A C>T	21	38878524	38878524	C	T	DYRK1A	c.1642C>T	NM_001347721.2	NP_001334650.1:p.(Gln548Ter)	NC_000021.8:g.38878524C>T	(Likely) pathogenic	1 lab	c8b86defa8
4:123202687 BLTP1 C>T	4	123202687	123202687	C	T	BLTP1	c.8799-4C>T	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123202687C>T	(Likely) benign	1 lab	c8b8c7c977
9:35799728 NPR2 G>C	9	35799728	35799728	G	C	NPR2	c.987G>C	NM_003995.4	NP_003986.2:p.(Leu329=)	NC_000009.11:g.35799728G>C	VUS	1 lab	c8b93a52c0
10:73047412 UNC5B G>A	10	73047412	73047412	G	A	UNC5B	c.791G>A	NM_170744.5	NP_734465.2:p.(Arg264Gln)	NC_000010.10:g.73047412G>A	VUS	1 lab	c8bba30ecd
2:74146680 ACTG2 T>C	2	74146680	74146680	T	C	ACTG2	c.1109T>C	NM_001615.4	NP_001606.1:p.(Ile370Thr)	NC_000002.11:g.74146680T>C	VUS	1 lab	c8bdf2f579
15:99434763 IGF1R A>T	15	99434763	99434763	A	T	IGF1R	c.850A>T	NM_000875.5	NP_000866.1:p.(Asn284Tyr)	NC_000015.9:g.99434763A>T	VUS	1 lab	c8be2cbe85
2:18741578 RDH14 G>T	2	18741578	18741578	G	T	RDH14	c.261C>A	NM_020905.4	NP_065956.1:p.(Leu87=)	NC_000002.11:g.18741578G>T	VUS	1 lab	c8bfe26197
X:12728612 FRMPD4 T>C	X	12728612	12728612	T	C	FRMPD4	c.1565T>C	NM_014728.3	NP_055543.2:p.(Ile522Thr)	NC_000023.10:g.12728612T>C	VUS	1 lab	2ae0d75a13
16:88876120 APRT G>A	16	88876120	88876120	G	A	APRT	c.529C>T	NM_000485.3	NP_000476.1:p.(Leu177=)	NC_000016.9:g.88876120G>A	(Likely) benign	1 lab	c8c1207c89
1:240656280 GREM2 C>G	1	240656280	240656280	C	G	GREM2	c.496G>C	NM_022469.4	NP_071914.3:p.(Asp166His)	NC_000001.10:g.240656280C>G	VUS	1 lab	c8c127cbe6
18:51056915 DCC G>T	18	51056915	51056915	G	T	DCC	c.4255-19G>T	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.51056915G>T	(Likely) benign	1 lab	2ae965fca3
4:56290736 TMEM165 T>C	4	56290736	56290736	T	C	TMEM165	c.824T>C	NM_018475.5	NP_060945.2:p.(Val275Ala)	NC_000004.11:g.56290736T>C	(Likely) benign	1 lab	c8c262ec70
5:176638314 NSD1 A>G	5	176638314	176638314	A	G	NSD1	c.2914A>G	NM_022455.5	NP_071900.2:p.(Thr972Ala)	NC_000005.9:g.176638314A>G	(Likely) benign	1 lab	c8c3a4c1b5
19:39034161 RYR1 G>C	19	39034161	39034161	G	C	RYR1	c.11779-11G>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39034161G>C	(Likely) benign	1 lab	c8c4667902
16:89351199 ANKRD11 G>C	16	89351199	89351199	G	C	ANKRD11	c.1751C>G	NM_013275.6	NP_037407.4:p.(Ser584Cys)	NC_000016.9:g.89351199G>C	VUS	1 lab	c8c46857a4
3:184093787 THPO G>A	3	184093787	184093787	G	A	THPO	c.30C>T	NM_000460.4	NP_000451.1:p.(Val10=)	NC_000003.11:g.184093787G>A	(Likely) benign	1 lab	c8c709d669
5:140559334 PCDHB8 C>A	5	140559334	140559334	C	A	PCDHB8	c.1719C>A	NM_019120.5	NP_061993.3:p.(Cys573Ter)	NC_000005.9:g.140559334C>A	VUS	1 lab	c8c8013605
X:151124284 GABRE C>G	X	151124284	151124284	C	G	GABRE	c.833G>C	NM_004961.4	NP_004952.2:p.(Gly278Ala)	NC_000023.10:g.151124284C>G	(Likely) benign	1 lab	c8c8d6b816
5:179192703 MAML1 C>G	5	179192703	179192703	C	G	MAML1	c.692C>G	NM_014757.5	NP_055572.1:p.(Thr231Ser)	NC_000005.9:g.179192703C>G	VUS	1 lab	2ae9a28149
8:19363246 CSGALNACT1 A>T	8	19363246	19363246	A	T	CSGALNACT1	c.100T>A	NM_001354483.2	NP_001341412.1:p.(Cys34Ser)	NC_000008.10:g.19363246A>T	VUS	1 lab	c8ca2e84d8
16:30745938 SRCAP T>TA	16	30745938	30745945	T	TA	SRCAP	c.6729+9dup	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30745945dup	VUS	1 lab	c8cd292a3e
1:22157538 HSPG2 C>T	1	22157538	22157538	C	T	HSPG2	c.11608G>A	NM_005529.7	NP_005520.4:p.(Val3870Ile)	NC_000001.10:g.22157538C>T	(Likely) benign	1 lab	c8cd81fbe7
7:44184829 GCK T>TC	7	44184829	44184830	T	TC	GCK	c.1303dup	NM_000162.5	NP_000153.1:p.(Glu435GlyfsTer24)	NC_000007.13:g.44184830dup	(Likely) pathogenic	1 lab	c8cdf7fc54
X:47098463 USP11 C>T	X	47098463	47098463	C	T	USP11	c.177-6C>T	NM_001371072.1	NP_001358001.1:p.?	NC_000023.10:g.47098463C>T	(Likely) benign	1 lab	c8ce43d2ae
2:203155896 NOP58 A>C	2	203155896	203155896	A	C	NOP58	c.683A>C	NM_015934.5	NP_057018.1:p.(Glu228Ala)	NC_000002.11:g.203155896A>C	(Likely) benign	1 lab	c8cf5932c2
X:67652640 OPHN1 T>G	X	67652640	67652640	T	G	OPHN1	c.154+69A>C	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67652640T>G	(Likely) benign	1 lab	2cd2d3b498
3:121415367 GOLGB1 T>C	3	121415367	121415367	T	C	GOLGB1	c.4003A>G	NM_001366282.2	NP_001353211.1:p.(Ser1335Gly)	NC_000003.11:g.121415367T>C	(Likely) benign	1 lab	c8d16ef249
11:19854095 NAV2 C>T	11	19854095	19854095	C	T	NAV2	c.333C>T	NM_145117.5	NP_660093.2:p.(Leu111=)	NC_000011.9:g.19854095C>T	(Likely) benign	1 lab	c8d1a2347f
16:89341500 ANKRD11 C>A	16	89341500	89341500	C	A	ANKRD11	c.7569+1G>T	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89341500C>A	(Likely) pathogenic	1 lab	c8d1e6b14a
20:62715318 LKAAEAR1 T>G	20	62715318	62715318	T	G	LKAAEAR1	c.255A>C	NM_001353425.2	NP_001340354.1:p.(Glu85Asp)	NC_000020.10:g.62715318T>G	(Likely) benign	1 lab	c8d257982b
12:69743926 LYZ C>T	12	69743926	69743926	C	T	LYZ	c.175C>T	NM_000239.3	NP_000230.1:p.(Arg59Ter)	NC_000012.11:g.69743926C>T	(Likely) benign	1 lab	c8d2f48965
15:91490076 UNC45A G>C	15	91490076	91490076	G	C	UNC45A	c.1432G>C	NM_018671.5	NP_061141.2:p.(Gly478Arg)	NC_000015.9:g.91490076G>C	VUS	1 lab	c8d3352518
12:48368097 COL2A1 G>T	12	48368097	48368097	G	T	COL2A1	c.4092C>A	NM_001844.5	NP_001835.3:p.(Asp1364Glu)	NC_000012.11:g.48368097G>T	(Likely) benign	1 lab	c8d4680580
14:102500799 DYNC1H1 C>T	14	102500799	102500799	C	T	DYNC1H1	c.10754+10C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102500799C>T	(Likely) benign	1 lab	c8d4eb180b
3:10070399 FANCD2 G>A	3	10070399	10070399	G	A	FANCD2	c.58G>A	NM_001018115.3	NP_001018125.1:p.(Ala20Thr)	NC_000003.11:g.10070399G>A	(Likely) benign	1 lab	c8d507be21
1:78211122 USP33 G>A	1	78211122	78211122	G	A	USP33	c.-51-3689C>T	NM_201624.3	NP_963918.1:p.?	NC_000001.10:g.78211122G>A	VUS	1 lab	c8d62164e0
5:153857391 HAND1 C>T	5	153857391	153857391	C	T	HAND1	c.178G>A	NM_004821.3	NP_004812.1:p.(Gly60Arg)	NC_000005.9:g.153857391C>T	(Likely) benign	1 lab	c8d71fa8c7
16:19451418 TMC5 T>C	16	19451418	19451418	T	C	TMC5	c.58T>C	NM_001261841.2	NP_001248770.1:p.(Ser20Pro)	NC_000016.9:g.19451418T>C	(Likely) benign	1 lab	c8d7fd9999
5:66438246 MAST4 C>T	5	66438246	66438246	C	T	MAST4	c.2618-3C>T	NM_001164664.2	NP_001158136.1:p.?	NC_000005.9:g.66438246C>T	(Likely) benign	1 lab	c8d95346a1
5:150407593 GPX3 A>G	5	150407593	150407593	A	G	GPX3	c.583A>G	NM_002084.5	NP_002075.2:p.(Ile195Val)	NC_000005.9:g.150407593A>G	VUS	1 lab	c8db0c1a2b
19:7170545 INSR T>G	19	7170545	7170545	T	G	INSR	c.1483+3A>C	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7170545T>G	VUS	1 lab	c8db333334
4:6304007 WFS1 C>G	4	6304007	6304007	C	G	WFS1	c.2485C>G	NM_006005.3	NP_005996.2:p.(Leu829Val)	NC_000004.11:g.6304007C>G	VUS	1 lab	c8dbbcb30f
12:5021188 KCNA1 A>T	12	5021188	5021188	A	T	KCNA1	c.644A>T	NM_000217.3	NP_000208.2:p.(Asn215Ile)	NC_000012.11:g.5021188A>T	VUS	1 lab	c8dc26f911
6:129781357 LAMA2 G>T	6	129781357	129781357	G	T	LAMA2	c.6880G>T	NM_000426.4	NP_000417.3:p.(Val2294Leu)	NC_000006.11:g.129781357G>T	VUS	1 lab	c8dc317611
X:22208619 PHEX C>T	X	22208619	22208619	C	T	PHEX	c.1645C>T	NM_000444.6	NP_000435.3:p.(Arg549Ter)	NC_000023.10:g.22208619C>T	(Likely) pathogenic	1 lab	c8dc7ce0d2
20:2819513 PCED1A G>A	20	2819513	2819513	G	A	PCED1A	c.420C>T	NM_022760.6	NP_073597.2:p.(Asn140=)	NC_000020.10:g.2819513G>A	(Likely) benign	1 lab	c8dd9fc537
7:29923977 WIPF3 T>TG	7	29923977	29923978	T	TG	WIPF3	c.867_868insG	NM_001080529.3	NP_001073998.2:p.(Pro290AlafsTer28)	NC_000007.13:g.29923977_29923978insG	VUS	1 lab	c8dea86361
15:34546655 SLC12A6 G>A	15	34546655	34546655	G	A	SLC12A6	c.1012C>T	NM_001365088.1	NP_001352017.1:p.(Arg338Cys)	NC_000015.9:g.34546655G>A	VUS	1 lab	c8df03b1dc
16:29998820 TAOK2 G>A	16	29998820	29998820	G	A	TAOK2	c.3227G>A	NM_016151.4	NP_057235.2:p.(Arg1076Gln)	NC_000016.9:g.29998820G>A	VUS	1 lab	c8e2385214
19:17122509 CPAMD8 G>A	19	17122509	17122509	G	A	CPAMD8	c.326C>T	NM_015692.5	NP_056507.3:p.(Ala109Val)	NC_000019.9:g.17122509G>A	(Likely) benign	1 lab	c8e3c2b1b5
4:166981254 TLL1 A>G	4	166981254	166981254	A	G	TLL1	c.1921A>G	NM_012464.5	NP_036596.3:p.(Asn641Asp)	NC_000004.11:g.166981254A>G	VUS	1 lab	c8e56181a8
1:155449866 ASH1L C>T	1	155449866	155449866	C	T	ASH1L	c.2795G>A	NM_018489.3	NP_060959.2:p.(Ser932Asn)	NC_000001.10:g.155449866C>T	(Likely) benign	1 lab	c8e6286c6f
7:143096030 EPHA1 A>AG	7	143096030	143096036	A	AG	EPHA1	c.999dup	NM_005232.5	NP_005223.4:p.(Ser334LeufsTer77)	NC_000007.13:g.143096036dup	(Likely) benign	1 lab	c8e7db2d47
17:17720642 SREBF1 G>C	17	17720642	17720642	G	C	SREBF1	c.1534C>G	NM_004176.5	NP_004167.3:p.(Leu512Val)	NC_000017.10:g.17720642G>C	(Likely) benign	1 lab	c8e8304b3e
16:4555593 HMOX2 A>G	16	4555593	4555593	A	G	HMOX2	c.68A>G	NM_002134.4	NP_002125.3:p.(Glu23Gly)	NC_000016.9:g.4555593A>G	(Likely) benign	1 lab	c8e88246b8
22:42458851 NAGA G>A	22	42458851	42458851	G	A	NAGA	c.937C>T	NM_000262.3	NP_000253.1:p.(Gln313Ter)	NC_000022.10:g.42458851G>A	(Likely) pathogenic	1 lab	c8e8e91f2a
19:18899204 COMP T>A	19	18899204	18899204	T	A	COMP	c.867+15A>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899204T>A	VUS	1 lab	c8e9d0975a
3:195513581 MUC4 A>C	3	195513581	195513581	A	C	MUC4	c.4870T>G	NM_018406.7	NP_060876.5:p.(Ser1624Ala)	NC_000003.11:g.195513581A>C	(Likely) benign	1 lab	c8ea0374d0
20:45004013 ELMO2 C>T	20	45004013	45004013	C	T	ELMO2	c.931-4G>A	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45004013C>T	(Likely) benign	1 lab	c8ec1b10b5
9:80599268 GNAQ A>T	9	80599268	80599268	A	T	GNAQ	c.136+46748T>A	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80599268A>T	(Likely) benign	1 lab	c8edbeb01c
17:30348581 LRRC37B A>G	17	30348581	30348581	A	G	LRRC37B	c.170A>G	NM_001321350.2	NP_001308279.1:p.(Asn57Ser)	NC_000017.10:g.30348581A>G	(Likely) benign	1 lab	c8ee504c75
16:1818227 MAPK8IP3 A>T	16	1818227	1818227	A	T	MAPK8IP3	c.3590A>T	NM_001318852.2	NP_001305781.1:p.(Glu1197Val)	NC_000016.9:g.1818227A>T	VUS	1 lab	c903c3cb91
11:66010746 PACS1 A>ACTGTCT	11	66010746	66010748	A	ACTGTCT	PACS1	c.2888_2889insTGTCTC	NM_018026.4	NP_060496.2:p.(Ter964ValextTer2)	NC_000011.9:g.66010747_66010748insTGTCTC	VUS	1 lab	c8f14c17f4
1:1168212 B3GALT6 T>G	1	1168212	1168212	T	G	B3GALT6	c.554T>G	NM_080605.4	NP_542172.2:p.(Phe185Cys)	NC_000001.10:g.1168212T>G	VUS	1 lab	c8f2b5bdd1
1:1268311 TAS1R3 A>T	1	1268311	1268311	A	T	TAS1R3	c.1286A>T	NM_152228.3	NP_689414.2:p.(Asn429Ile)	NC_000001.10:g.1268311A>T	(Likely) benign	1 lab	c8f2fd3afb
6:157256668 ARID1B A>T	6	157256668	157256668	A	T	ARID1B	c.2205A>T	NM_001374828.1	NP_001361757.1:p.(Glu735Asp)	NC_000006.11:g.157256668A>T	VUS	1 lab	c8f4ec9177
X:151935746 MAGEA6 C>T	X	151935746	151935746	C	T	MAGEA6	c.421G>A	NM_005363.5	NP_005354.1:p.(Gly141Arg)	NC_000023.10:g.151935746C>T	(Likely) benign	1 lab	c8f5106011
2:219492952 PLCD4 C>T	2	219492952	219492952	C	T	PLCD4	c.973C>T	NM_032726.4	NP_116115.1:p.(Arg325Trp)	NC_000002.11:g.219492952C>T	(Likely) benign	1 lab	c8f5b6e71e
1:89420907 KYAT3 A>G	1	89420907	89420907	A	G	KYAT3	c.789T>C	NM_001008661.3	NP_001008661.1:p.(Ala263=)	NC_000001.10:g.89420907A>G	(Likely) benign	1 lab	c93a055c69
19:18893856 COMP C>T	19	18893856	18893856	C	T	COMP	c.2227+8G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18893856C>T	(Likely) benign	1 lab	c8f6eee38c
17:78187976 SGSH C>A	17	78187976	78187976	C	A	SGSH	c.658G>T	NM_000199.5	NP_000190.1:p.(Val220Leu)	NC_000017.10:g.78187976C>A	(Likely) benign	1 lab	c8f736aac3
2:148715901 ORC4 A>G	2	148715901	148715901	A	G	ORC4	c.353T>C	NM_181741.4	NP_859525.1:p.(Leu118Ser)	NC_000002.11:g.148715901A>G	VUS	1 lab	c8f73f8f16
9:5738545 RIC1 CTT>C	9	5738545	5738566	CTT	C	RIC1	c.901+27_901+28del	NM_020829.4	NP_065880.2:p.?	NC_000009.11:g.5738565_5738566del	(Likely) benign	1 lab	c8fbc0ac1e
12:70351606 MYRFL A>G	12	70351606	70351606	A	G	MYRFL	c.2455A>G	NM_182530.3	NP_872336.2:p.(Thr819Ala)	NC_000012.11:g.70351606A>G	VUS	1 lab	c90157759a
12:3031493 TULP3 G>A	12	3031493	3031493	G	A	TULP3	c.319G>A	NM_003324.5	NP_003315.2:p.(Val107Ile)	NC_000012.11:g.3031493G>A	(Likely) benign	1 lab	2cd4a28755
4:170384408 NEK1 G>T	4	170384408	170384408	G	T	NEK1	c.2573C>A	NM_001199397.3	NP_001186326.1:p.(Thr858Lys)	NC_000004.11:g.170384408G>T	(Likely) benign	1 lab	c903a26f14
12:53722219 SP7 G>C	12	53722219	53722219	G	C	SP7	c.1007C>G	NM_001173467.3	NP_001166938.1:p.(Thr336Ser)	NC_000012.11:g.53722219G>C	VUS	1 lab	c90620d55a
21:35138174 ITSN1 A>G	21	35138174	35138174	A	G	ITSN1	c.789-5A>G	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35138174A>G	(Likely) benign	1 lab	2cd56a3b10
9:134016094 NUP214 C>T	9	134016094	134016094	C	T	NUP214	c.1291C>T	NM_005085.4	NP_005076.3:p.(Pro431Ser)	NC_000009.11:g.134016094C>T	(Likely) benign	1 lab	c90861d566
17:7576630 TP53 A>C	17	7576630	7576630	A	C	TP53	c.993+223T>G	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7576630A>C	(Likely) benign	1 lab	c908842666
12:80732927 OTOGL A>C	12	80732927	80732927	A	C	OTOGL	c.4933A>C	NM_001378609.3	NP_001365538.2:p.(Met1645Leu)	NC_000012.11:g.80732927A>C	VUS	1 lab	c908e795da
2:176866985 LNPK G>A	2	176866985	176866985	G	A	LNPK	c.-160C>T	NM_030650.3	NP_085153.1:p.?	NC_000002.11:g.176866985G>A	VUS	1 lab	c9093102ee
1:43392779 SLC2A1 C>G	1	43392779	43392779	C	G	SLC2A1	c.1412G>C	NM_006516.4	NP_006507.2:p.(Gly471Ala)	NC_000001.10:g.43392779C>G	VUS	1 lab	c909bcb62f
17:10533442 MYH3 C>A	17	10533442	10533442	C	A	MYH3	c.5529G>T	NM_002470.4	NP_002461.2:p.(Lys1843Asn)	NC_000017.10:g.10533442C>A	VUS	1 lab	c90a5f8db5
18:55368515 ATP8B1 A>T	18	55368515	55368515	A	T	ATP8B1	c.424T>A	NM_001374385.1	NP_001361314.1:p.(Tyr142Asn)	NC_000018.9:g.55368515A>T	(Likely) benign	1 lab	c90c134c3b
11:61091613 DDB1 C>A	11	61091613	61091613	C	A	DDB1	c.763-4G>T	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61091613C>A	VUS	1 lab	c90d2e18ac
10:50960186 OGDHL C>T	10	50960186	50960186	C	T	OGDHL	c.587G>A	NM_018245.3	NP_060715.2:p.(Arg196His)	NC_000010.10:g.50960186C>T	VUS	1 lab	c90e5cf58c
X:152586090 PNMA6F G>C	X	152586090	152586090	G	C	PNMA6F	c.43C>G	NM_001354980.2	NP_001341909.1:p.(Arg15Gly)	NC_000023.10:g.152586090G>C	VUS	1 lab	c90ec26752
1:197062364 ASPM C>T	1	197062364	197062364	C	T	ASPM	c.9112G>A	NM_018136.5	NP_060606.3:p.(Ala3038Thr)	NC_000001.10:g.197062364C>T	(Likely) benign	1 lab	c90f41c221
2:219920288 IHH T>C	2	219920288	219920288	T	C	IHH	c.877A>G	NM_002181.4	NP_002172.2:p.(Thr293Ala)	NC_000002.11:g.219920288T>C	VUS	1 lab	c911029451
12:102813392 IGF1 G>A	12	102813392	102813392	G	A	IGF1	c.297C>T	NM_000618.5	NP_000609.1:p.(Ser99=)	NC_000012.11:g.102813392G>A	(Likely) benign	1 lab	c913991511
9:109690941 ZNF462 C>T	9	109690941	109690941	C	T	ZNF462	c.4748C>T	NM_021224.6	NP_067047.4:p.(Pro1583Leu)	NC_000009.11:g.109690941C>T	(Likely) benign	1 lab	c9165d43f2
17:66519090 PRKAR1A G>A	17	66519090	66519090	G	A	PRKAR1A	c.348+23G>A	NM_002734.5	NP_002725.1:p.?	NC_000017.10:g.66519090G>A	(Likely) benign	1 lab	c91711b057
12:88589266 TMTC3 G>GTGA	12	88589266	88589270	G	GTGA	TMTC3	c.2587_2589dup	NM_181783.4	NP_861448.2:p.(Asp863dup)	NC_000012.11:g.88589268_88589270dup	VUS	1 lab	c9173206b8
X:54048806 PHF8 C>T	X	54048806	54048806	C	T	PHF8	c.185-6G>A	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54048806C>T	(Likely) benign	1 lab	c917c9d50a
17:19554850 ALDH3A2 C>G	17	19554850	19554850	C	G	ALDH3A2	c.154-10C>G	NM_000382.3	NP_000373.1:p.?	NC_000017.10:g.19554850C>G	VUS	1 lab	c917cf459c
15:43363086 UBR1 T>C	15	43363086	43363086	T	C	UBR1	c.566A>G	NM_174916.3	NP_777576.1:p.(Gln189Arg)	NC_000015.9:g.43363086T>C	VUS	1 lab	c9180161f9
2:240103102 HDAC4 G>A	2	240103102	240103102	G	A	HDAC4	c.340-4843C>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240103102G>A	(Likely) benign	1 lab	c91ae3d83e
10:79764466 POLR3A G>A	10	79764466	79764466	G	A	POLR3A	c.2247+8C>T	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79764466G>A	(Likely) benign	1 lab	c91be17ba5
18:28934375 DSG1 T>C	18	28934375	28934375	T	C	DSG1	c.2216T>C	NM_001942.4	NP_001933.2:p.(Ile739Thr)	NC_000018.9:g.28934375T>C	(Likely) benign	1 lab	c91c39361b
18:31324056 ASXL3 T>G	18	31324056	31324056	T	G	ASXL3	c.4244T>G	NM_030632.3	NP_085135.1:p.(Met1415Arg)	NC_000018.9:g.31324056T>G	(Likely) benign	1 lab	c9201181ec
9:139266396 CARD9 C>T	9	139266396	139266396	C	T	CARD9	c.135G>A	NM_052813.4	NP_434700.2:p.(Glu45=)	NC_000009.11:g.139266396C>T	(Likely) benign	1 lab	2cdcc3a74b
7:100183710 LRCH4 A>G	7	100183710	100183710	A	G	LRCH4	c.14T>C	NM_002319.5	NP_002310.2:p.(Val5Ala)	NC_000007.13:g.100183710A>G	(Likely) benign	1 lab	c922062dc4
1:19547288 EMC1 C>T	1	19547288	19547288	C	T	EMC1	c.2642G>A	NM_015047.3	NP_055862.1:p.(Arg881His)	NC_000001.10:g.19547288C>T	(Likely) benign	1 lab	c9229125ba
10:96076315 PLCE1 T>C	10	96076315	96076315	T	C	PLCE1	c.6144T>C	NM_016341.3	NP_057425.3:p.(Asn2048=)	NC_000010.10:g.96076315T>C	(Likely) benign	1 lab	2cde818c47
19:39063909 RYR1 C>T	19	39063909	39063909	C	T	RYR1	c.14091C>T	NM_000540.3	NP_000531.2:p.(Asp4697=)	NC_000019.9:g.39063909C>T	(Likely) benign	1 lab	c923cac056
2:202483675 CATSPERT G>T	2	202483675	202483675	G	T	CATSPERT	c.179C>A	NM_001168221.2	NP_001161693.1:p.(Thr60Lys)	NC_000002.11:g.202483675G>T	VUS	1 lab	c93a5d7e89
1:237947688 RYR2 C>A	1	237947688	237947688	C	A	RYR2	c.12676C>A	NM_001035.3	NP_001026.2:p.(Pro4226Thr)	NC_000001.10:g.237947688C>A	(Likely) benign	1 lab	c93311584d
1:226034839 TMEM63A T>TCTGCTGCTG	1	226034839	226034858	T	TCTGCTGCTG	TMEM63A	c.2317_2325dup	NM_014698.3	NP_055513.2:p.(Gln773_Gln775dup)	NC_000001.10:g.226034850_226034858dup	(Likely) benign	1 lab	c9256df864
3:119156691 TMEM39A C>G	3	119156691	119156691	C	G	TMEM39A	c.835G>C	NM_018266.3	NP_060736.1:p.(Ala279Pro)	NC_000003.11:g.119156691C>G	VUS	1 lab	c926133c2b
5:60628469 ZSWIM6 T>A	5	60628469	60628469	T	A	ZSWIM6	c.370T>A	NM_020928.2	NP_065979.1:p.(Tyr124Asn)	NC_000005.9:g.60628469T>A	VUS	1 lab	c9285e52ff
16:83933045 MLYCD A>G	16	83933045	83933045	A	G	MLYCD	c.296A>G	NM_012213.3	NP_036345.2:p.(His99Arg)	NC_000016.9:g.83933045A>G	VUS	1 lab	c92868361f
11:16117615 SOX6 C>T	11	16117615	16117615	C	T	SOX6	c.1028G>A	NM_001367873.1	NP_001354802.1:p.(Ser343Asn)	NC_000011.9:g.16117615C>T	VUS	1 lab	c928f6a32a
16:51175661 SALL1 T>G	16	51175661	51175661	T	G	SALL1	c.472A>C	NM_002968.3	NP_002959.2:p.(Ser158Arg)	NC_000016.9:g.51175661T>G	(Likely) benign	1 lab	c9294fc8eb
9:129458222 LMX1B G>A	9	129458222	129458222	G	A	LMX1B	c.991G>A	NM_001174147.2	NP_001167618.1:p.(Asp331Asn)	NC_000009.11:g.129458222G>A	(Likely) benign	1 lab	c92b71082f
18:10731449 PIEZO2 G>C	18	10731449	10731449	G	C	PIEZO2	c.4985C>G	NM_001378183.1	NP_001365112.1:p.(Ser1662Cys)	NC_000018.9:g.10731449G>C	(Likely) benign	1 lab	c92cdae58e
16:30734952 SRCAP G>A	16	30734952	30734952	G	A	SRCAP	c.4207G>A	NM_006662.3	NP_006653.2:p.(Val1403Met)	NC_000016.9:g.30734952G>A	(Likely) benign	1 lab	c92d0020ed
22:19168293 CLTCL1 ACT>A	22	19168293	19168298	ACT	A	CLTCL1	c.4852_4853del	NM_007098.4	NP_009029.3:p.(Leu1619AlafsTer16)	NC_000022.10:g.19168297_19168298del	VUS	1 lab	c92d1f8b88
8:133899245 TG C>G	8	133899245	133899245	C	G	TG	c.1628C>G	NM_003235.5	NP_003226.4:p.(Thr543Ser)	NC_000008.10:g.133899245C>G	(Likely) benign	1 lab	c92d64797e
X:83129446 CYLC1 G>A	X	83129446	83129446	G	A	CYLC1	c.1730G>A	NM_021118.3	NP_066941.1:p.(Arg577Lys)	NC_000023.10:g.83129446G>A	(Likely) benign	1 lab	c92e2f8105
17:2202392 SMG6 C>T	17	2202392	2202392	C	T	SMG6	c.1655G>A	NM_017575.5	NP_060045.4:p.(Gly552Glu)	NC_000017.10:g.2202392C>T	(Likely) benign	1 lab	c92f59dd34
16:30991240 SETD1A ACAG>A	16	30991240	30991256	ACAG	A	SETD1A	c.4147_4149del	NM_014712.3	NP_055527.1:p.(Ser1383del)	NC_000016.9:g.30991254_30991256del	(Likely) benign	1 lab	c93015bbaf
1:22412561 CDC42 A>T	1	22412561	22412561	A	T	CDC42	c.179-371A>T	NM_001791.4	NP_001782.1:p.?	NC_000001.10:g.22412561A>T	(Likely) benign	1 lab	c9335c2610
8:135596071 ZFAT T>C	8	135596071	135596071	T	C	ZFAT	c.2887+4A>G	NM_020863.4	NP_065914.2:p.?	NC_000008.10:g.135596071T>C	VUS	1 lab	c93398ab19
15:48518670 SLC12A1 C>T	15	48518670	48518670	C	T	SLC12A1	c.629-3C>T	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48518670C>T	VUS	1 lab	c93420c822
20:62562882 DNAJC5 C>T	20	62562882	62562882	C	T	DNAJC5	c.558C>T	NM_025219.3	NP_079495.1:p.(Ala186=)	NC_000020.10:g.62562882C>T	(Likely) benign	1 lab	2cde966a51
16:49671963 ZNF423 A>C	16	49671963	49671963	A	C	ZNF423	c.1124T>G	NM_001379286.1	NP_001366215.1:p.(Met375Arg)	NC_000016.9:g.49671963A>C	VUS	1 lab	c935326862
3:64579930 ADAMTS9 G>A	3	64579930	64579930	G	A	ADAMTS9	c.4356+4C>T	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64579930G>A	(Likely) benign	1 lab	2ce05fa1e1
16:51173329 SALL1 G>A	16	51173329	51173329	G	A	SALL1	c.2804C>T	NM_002968.3	NP_002959.2:p.(Thr935Met)	NC_000016.9:g.51173329G>A	(Likely) benign	1 lab	2aeb8f6722
16:1265066 CACNA1H G>A	16	1265066	1265066	G	A	CACNA1H	c.5024G>A	NM_021098.3	NP_066921.2:p.(Arg1675Gln)	NC_000016.9:g.1265066G>A	VUS	1 lab	c939acc524
15:28465789 HERC2 T>C	15	28465789	28465789	T	C	HERC2	c.5654A>G	NM_004667.6	NP_004658.3:p.(Asp1885Gly)	NC_000015.9:g.28465789T>C	VUS	1 lab	c939d03ed5
4:6302555 WFS1 A>G	4	6302555	6302555	A	G	WFS1	c.1033A>G	NM_006005.3	NP_005996.2:p.(Ile345Val)	NC_000004.11:g.6302555A>G	VUS	1 lab	c9826520e2
19:48205391 BICRA G>A	19	48205391	48205391	G	A	BICRA	c.4402G>A	NM_001394372.1	NP_001381301.1:p.(Gly1468Arg)	NC_000019.9:g.48205391G>A	VUS	1 lab	c93a6eb894
3:14724448 C3orf20 C>G	3	14724448	14724448	C	G	C3orf20	c.228C>G	NM_032137.5	NP_115513.4:p.(Pro76=)	NC_000003.11:g.14724448C>G	VUS	1 lab	c93a877aaa
X:14883231 FANCB T>C	X	14883231	14883231	T	C	FANCB	c.402A>G	NM_001018113.3	NP_001018123.1:p.(Leu134=)	NC_000023.10:g.14883231T>C	(Likely) benign	1 lab	c93be950bd
19:7605846 PNPLA6 C>G	19	7605846	7605846	C	G	PNPLA6	c.833C>G	NM_001166114.2	NP_001159586.1:p.(Ala278Gly)	NC_000019.9:g.7605846C>G	VUS	1 lab	c93c094c87
4:53751937 SCFD2 C>G	4	53751937	53751937	C	G	SCFD2	c.1939G>C	NM_152540.4	NP_689753.2:p.(Ala647Pro)	NC_000004.11:g.53751937C>G	(Likely) benign	1 lab	c93dd28dc1
X:132458544 GPC4 C>A	X	132458544	132458544	C	A	GPC4	c.340G>T	NM_001448.3	NP_001439.2:p.(Glu114Ter)	NC_000023.10:g.132458544C>A	VUS	1 lab	c93e5d50f0
14:63416881 KCNH5 T>C	14	63416881	63416881	T	C	KCNH5	c.1339A>G	NM_139318.5	NP_647479.2:p.(Met447Val)	NC_000014.8:g.63416881T>C	(Likely) benign	1 lab	c93ea06065
12:49435470 KMT2D G>A	12	49435470	49435470	G	A	KMT2D	c.6202C>T	NM_003482.4	NP_003473.3:p.(Arg2068Trp)	NC_000012.11:g.49435470G>A	VUS	1 lab	c93f75208a
9:138648965 KCNT1 T>C	9	138648965	138648965	T	C	KCNT1	c.601-37T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138648965T>C	(Likely) benign	1 lab	331d5a9652
4:126240390 FAT4 A>G	4	126240390	126240390	A	G	FAT4	c.2824A>G	NM_001291303.3	NP_001278232.1:p.(Ile942Val)	NC_000004.11:g.126240390A>G	VUS	1 lab	c9426dffc8
12:49998097 FAM186B C>G	12	49998097	49998097	C	G	FAM186B	c.321G>C	NM_032130.3	NP_115506.1:p.(Trp107Cys)	NC_000012.11:g.49998097C>G	VUS	1 lab	c944e63a5a
16:68842475 CDH1 A>G	16	68842475	68842475	A	G	CDH1	c.531+5A>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842475A>G	(Likely) benign	1 lab	c949177025
17:57105986 TRIM37 C>T	17	57105986	57105986	C	T	TRIM37	c.2047G>A	NM_015294.6	NP_056109.1:p.(Ala683Thr)	NC_000017.10:g.57105986C>T	(Likely) benign	1 lab	c94e2b483f
9:4125839 GLIS3 A>T	9	4125839	4125839	A	T	GLIS3	c.491T>A	NM_001042413.2	NP_001035878.1:p.(Ile164Asn)	NC_000009.11:g.4125839A>T	(Likely) benign	1 lab	c9508cfd46
10:76784725 KAT6B G>A	10	76784725	76784725	G	A	KAT6B	c.3382G>A	NM_012330.4	NP_036462.2:p.(Val1128Ile)	NC_000010.10:g.76784725G>A	(Likely) benign	1 lab	c9544edd66
18:33709946 ELP2 G>T	18	33709946	33709946	G	T	ELP2	c.50G>T	NM_018255.4	NP_060725.1:p.(Arg17Leu)	NC_000018.9:g.33709946G>T	VUS	1 lab	c9559085e6
19:46915865 CCDC8 T>G	19	46915865	46915865	T	G	CCDC8	c.203A>C	NM_032040.5	NP_114429.2:p.(Gln68Pro)	NC_000019.9:g.46915865T>G	(Likely) benign	1 lab	c955a64d05
2:97405749 LMAN2L G>A	2	97405749	97405749	G	A	LMAN2L	c.29C>T	NM_030805.4	NP_110432.1:p.(Ser10Leu)	NC_000002.11:g.97405749G>A	(Likely) benign	1 lab	c955b47586
22:36876814 TXN2 C>T	22	36876814	36876814	C	T	TXN2	c.71G>A	NM_012473.4	NP_036605.2:p.(Trp24Ter)	NC_000022.10:g.36876814C>T	(Likely) pathogenic	1 lab	c9567b0bbd
22:50898793 SBF1 C>T	22	50898793	50898793	C	T	SBF1	c.3191G>A	NM_002972.4	NP_002963.2:p.(Gly1064Glu)	NC_000022.10:g.50898793C>T	VUS	1 lab	c957bb1126
11:11374072 CSNK2A3 C>T	11	11374072	11374072	C	T	CSNK2A3	c.595G>A	NM_001256686.2	NP_001243615.1:p.(Gly199Ser)	NC_000011.9:g.11374072C>T	VUS	1 lab	c957cdd638
10:3181190 PITRM1 CCAGTCGA>C	10	3181190	3181200	CCAGTCGA	C	PITRM1	c.2816_2822del	NM_014889.4	NP_055704.2:p.(Val939GlyfsTer23)	NC_000010.10:g.3181194_3181200del	VUS	1 lab	c95848e57b
11:67379846 NDUFV1 C>A	11	67379846	67379846	C	A	NDUFV1	c.1312C>A	NM_007103.4	NP_009034.2:p.(Leu438Met)	NC_000011.9:g.67379846C>A	VUS	1 lab	c958a7fccd
9:136573411 SARDH C>T	9	136573411	136573411	C	T	SARDH	c.1468G>A	NM_001134707.2	NP_001128179.1:p.(Glu490Lys)	NC_000009.11:g.136573411C>T	(Likely) benign	1 lab	c958af42f8
1:22176957 HSPG2 G>A	1	22176957	22176957	G	A	HSPG2	c.7193C>T	NM_005529.7	NP_005520.4:p.(Ser2398Phe)	NC_000001.10:g.22176957G>A	VUS	1 lab	c9594f29c9
6:87966075 ZNF292 C>T	6	87966075	87966075	C	T	ZNF292	c.2728C>T	NM_015021.3	NP_055836.1:p.(Leu910Phe)	NC_000006.11:g.87966075C>T	VUS	1 lab	c95a100139
7:21640338 DNAH11 G>T	7	21640338	21640338	G	T	DNAH11	c.3045G>T	NM_001277115.2	NP_001264044.1:p.(Glu1015Asp)	NC_000007.13:g.21640338G>T	(Likely) benign	1 lab	c95c5a8d4a
2:234669619 UGT1A1 C>A	2	234669619	234669619	C	A	UGT1A1	c.686C>A	NM_000463.3	NP_000454.1:p.(Pro229Gln)	NC_000002.11:g.234669619C>A	(Likely) pathogenic	1 lab	c95c7d5510
18:55273895 NARS1 G>A	18	55273895	55273895	G	A	NARS1	c.1090C>T	NM_004539.4	NP_004530.1:p.(Arg364Ter)	NC_000018.9:g.55273895G>A	VUS	1 lab	c95d4e188f
15:33872251 RYR3 C>T	15	33872251	33872251	C	T	RYR3	c.1343C>T	NM_001036.6	NP_001027.3:p.(Ala448Val)	NC_000015.9:g.33872251C>T	VUS	1 lab	c95f907c3b
16:21108757 DNAH3 T>C	16	21108757	21108757	T	C	DNAH3	c.2446A>G	NM_001347886.2	NP_001334815.1:p.(Met816Val)	NC_000016.9:g.21108757T>C	VUS	1 lab	c961dc2c54
6:152469390 SYNE1 T>G	6	152469390	152469390	T	G	SYNE1	c.24766A>C	NM_182961.4	NP_892006.3:p.(Asn8256His)	NC_000006.11:g.152469390T>G	(Likely) benign	1 lab	c963328e8e
16:2814640 SRRM2 A>G	16	2814640	2814640	A	G	SRRM2	c.4111A>G	NM_016333.4	NP_057417.3:p.(Met1371Val)	NC_000016.9:g.2814640A>G	(Likely) benign	1 lab	c96368068f
12:102164841 GNPTAB G>C	12	102164841	102164841	G	C	GNPTAB	c.866C>G	NM_024312.5	NP_077288.2:p.(Thr289Ser)	NC_000012.11:g.102164841G>C	(Likely) benign	1 lab	c9636f7152
11:17452440 ABCC8 G>A	11	17452440	17452440	G	A	ABCC8	c.1738C>T	NM_000352.6	NP_000343.2:p.(Leu580Phe)	NC_000011.9:g.17452440G>A	VUS	1 lab	c9652904e9
8:77765105 ZFHX4 G>A	8	77765105	77765105	G	A	ZFHX4	c.5948G>A	NM_024721.5	NP_078997.4:p.(Arg1983His)	NC_000008.10:g.77765105G>A	VUS	1 lab	c9652d3862
17:1584325 PRPF8 T>C	17	1584325	1584325	T	C	PRPF8	c.890A>G	NM_006445.4	NP_006436.3:p.(Asn297Ser)	NC_000017.10:g.1584325T>C	VUS	1 lab	c9656e0bc2
8:68066374 CSPP1 G>A	8	68066374	68066374	G	A	CSPP1	c.2241+3G>A	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.68066374G>A	(Likely) benign	1 lab	c9658c0e38
17:7349410 CHRNB1 G>T	17	7349410	7349410	G	T	CHRNB1	c.221G>T	NM_000747.3	NP_000738.2:p.(Ser74Ile)	NC_000017.10:g.7349410G>T	(Likely) benign	1 lab	c965e3e400
2:73677516 ALMS1 C>CTAT	2	73677516	73677517	C	CTAT	ALMS1	c.3862_3863insTAT	NM_001378454.1	NP_001365383.1:p.(Gln1288delinsLeuTer)	NC_000002.11:g.73677516_73677517insTAT	(Likely) pathogenic	1 lab	c967131084
17:62022711 SCN4A C>A	17	62022711	62022711	C	A	SCN4A	c.3720+9G>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62022711C>A	(Likely) benign	1 lab	c9679dfa1c
22:46773112 CELSR1 G>A	22	46773112	46773112	G	A	CELSR1	c.7430C>T	NM_001378328.1	NP_001365257.1:p.(Ser2477Phe)	NC_000022.10:g.46773112G>A	VUS	1 lab	c968016275
19:49926533 PTH2 G>C	19	49926533	49926533	G	C	PTH2	c.64C>G	NM_178449.4	NP_848544.1:p.(Leu22Val)	NC_000019.9:g.49926533G>C	(Likely) benign	1 lab	c9686bf386
12:56088562 ITGA7 C>T	12	56088562	56088562	C	T	ITGA7	c.2196G>A	NM_002206.3	NP_002197.2:p.(Ala732=)	NC_000012.11:g.56088562C>T	(Likely) pathogenic	1 lab	c96905d590
10:78709043 KCNMA1 C>T	10	78709043	78709043	C	T	KCNMA1	c.2566G>A	NM_001161352.2	NP_001154824.1:p.(Gly856Ser)	NC_000010.10:g.78709043C>T	VUS	1 lab	c96a342e4a
X:92964787 FAM133A G>C	X	92964787	92964787	G	C	FAM133A	c.369G>C	NM_001171109.2	NP_001164580.1:p.(Glu123Asp)	NC_000023.10:g.92964787G>C	(Likely) benign	1 lab	c96a731535
3:49083962 QRICH1 C>A	3	49083962	49083962	C	A	QRICH1	c.1567G>T	NM_198880.3	NP_942581.1:p.(Glu523Ter)	NC_000003.11:g.49083962C>A	(Likely) pathogenic	1 lab	c96b2bbcfc
19:37368556 ZNF345 G>A	19	37368556	37368556	G	A	ZNF345	c.824G>A	NM_001242472.2	NP_001229401.1:p.(Arg275Gln)	NC_000019.9:g.37368556G>A	(Likely) benign	1 lab	c96c35713c
9:94487049 ROR2 C>G	9	94487049	94487049	C	G	ROR2	c.1727G>C	NM_004560.4	NP_004551.2:p.(Ser576Thr)	NC_000009.11:g.94487049C>G	VUS	1 lab	c96ca36980
10:89265234 MINPP1 A>G	10	89265234	89265234	A	G	MINPP1	c.562A>G	NM_004897.5	NP_004888.2:p.(Met188Val)	NC_000010.10:g.89265234A>G	VUS	1 lab	c96e525db9
16:14038659 ERCC4 T>C	16	14038659	14038659	T	C	ERCC4	c.1984T>C	NM_005236.3	NP_005227.1:p.(Ser662Pro)	NC_000016.9:g.14038659T>C	(Likely) benign	1 lab	c96f6f4196
12:51118613 DIP2B C>T	12	51118613	51118613	C	T	DIP2B	c.3344C>T	NM_173602.3	NP_775873.2:p.(Ser1115Phe)	NC_000012.11:g.51118613C>T	(Likely) benign	1 lab	c9706321e6
22:42610793 TCF20 G>A	22	42610793	42610793	G	A	TCF20	c.519C>T	NM_001378418.1	NP_001365347.1:p.(Ser173=)	NC_000022.10:g.42610793G>A	(Likely) benign	1 lab	c970a991b7
X:53675210 HUWE1 T>A	X	53675210	53675210	T	A	HUWE1	c.89A>T	NM_031407.7	NP_113584.3:p.(Asn30Ile)	NC_000023.10:g.53675210T>A	VUS	1 lab	c9a4d23ede
16:2141170 PKD1 G>T	16	2141170	2141170	G	T	PKD1	c.11718C>A	NM_001009944.3	NP_001009944.3:p.(Cys3906Ter)	NC_000016.9:g.2141170G>T	(Likely) pathogenic	1 lab	c970d442e6
X:129147264 BCORL1 T>C	X	129147264	129147264	T	C	BCORL1	c.516T>C	NM_001379451.1	NP_001366380.1:p.(Asn172=)	NC_000023.10:g.129147264T>C	(Likely) benign	1 lab	c974f07f59
14:75019752 LTBP2 C>T	14	75019752	75019752	C	T	LTBP2	c.1035G>A	NM_000428.3	NP_000419.1:p.(Thr345=)	NC_000014.8:g.75019752C>T	(Likely) benign	1 lab	2af0bb4baf
16:711126 WDR90 G>A	16	711126	711126	G	A	WDR90	c.3467G>A	NM_145294.5	NP_660337.3:p.(Gly1156Asp)	NC_000016.9:g.711126G>A	VUS	1 lab	c9771e7905
8:144892761 SCRIB C>T	8	144892761	144892761	C	T	SCRIB	c.1418G>A	NM_182706.5	NP_874365.3:p.(Arg473Gln)	NC_000008.10:g.144892761C>T	VUS	1 lab	c97795c8ea
15:38776830 FAM98B TGGTGGAGGA>T	15	38776830	38776845	TGGTGGAGGA	T	FAM98B	c.1279_1287del	NM_173611.4	NP_775882.2:p.(Gly427_Gly429del)	NC_000015.9:g.38776837_38776845del	VUS	1 lab	c97991de8c
11:117063286 SIDT2 G>A	11	117063286	117063286	G	A	SIDT2	c.1982-4G>A	NM_001040455.2	NP_001035545.1:p.?	NC_000011.9:g.117063286G>A	(Likely) benign	1 lab	c97a789426
11:17424239 ABCC8 C>T	11	17424239	17424239	C	T	ABCC8	c.3619G>A	NM_000352.6	NP_000343.2:p.(Val1207Ile)	NC_000011.9:g.17424239C>T	VUS	1 lab	c97b7467b9
15:82337986 MEX3B T>TGCC	15	82337986	82338006	T	TGCC	MEX3B	c.58_60dup	NM_032246.6	NP_115622.2:p.(Gly20dup)	NC_000015.9:g.82338004_82338006dup	VUS	1 lab	c97c8e4079
16:70301557 AARS1 C>A	16	70301557	70301557	C	A	AARS1	c.1222+5G>T	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70301557C>A	VUS	1 lab	c97d7ef998
17:40353786 STAT5B G>A	17	40353786	40353786	G	A	STAT5B	c.2334C>T	NM_012448.4	NP_036580.2:p.(Asp778=)	NC_000017.10:g.40353786G>A	(Likely) benign	1 lab	c97ecd875a
12:6457332 SCNN1A C>T	12	6457332	6457332	C	T	SCNN1A	c.1717G>A	NM_001038.6	NP_001029.1:p.(Val573Ile)	NC_000012.11:g.6457332C>T	(Likely) benign	1 lab	331e03ebfa
1:144879162 PDE4DIP G>A	1	144879162	144879162	G	A	PDE4DIP	c.4486C>T	NM_001395426.1	NP_001382355.1:p.(Pro1496Ser)	NC_000001.10:g.144879162G>A	VUS	1 lab	c980ff397c
19:51848527 ETFB C>T	19	51848527	51848527	C	T	ETFB	c.706G>A	NM_001985.3	NP_001976.1:p.(Gly236Ser)	NC_000019.9:g.51848527C>T	VUS	1 lab	c9842d32c2
2:179629509 TTN G>A	2	179629509	179629509	G	A	TTN	c.9733C>T	NM_001267550.2	NP_001254479.2:p.(Leu3245Phe)	NC_000002.11:g.179629509G>A	VUS	1 lab	c985098f28
12:13716360 GRIN2B G>A	12	13716360	13716360	G	A	GRIN2B	c.3812C>T	NM_000834.5	NP_000825.2:p.(Ala1271Val)	NC_000012.11:g.13716360G>A	(Likely) benign	1 lab	c985511457
4:52895932 SGCB G>A	4	52895932	52895932	G	A	SGCB	c.341C>T	NM_000232.5	NP_000223.1:p.(Ser114Phe)	NC_000004.11:g.52895932G>A	(Likely) pathogenic	1 lab	c987a8d557
1:7792571 CAMTA1 T>A	1	7792571	7792571	T	A	CAMTA1	c.2978T>A	NM_015215.4	NP_056030.1:p.(Met993Lys)	NC_000001.10:g.7792571T>A	VUS	1 lab	c988533567
19:36339004 NPHS1 C>T	19	36339004	36339004	C	T	NPHS1	c.1379G>A	NM_004646.4	NP_004637.1:p.(Arg460Gln)	NC_000019.9:g.36339004C>T	(Likely) pathogenic	1 lab	c988b5589a
18:50976962 DCC G>A	18	50976962	50976962	G	A	DCC	c.3322G>A	NM_005215.4	NP_005206.2:p.(Val1108Ile)	NC_000018.9:g.50976962G>A	(Likely) benign	1 lab	c988b676e2
6:30691204 TUBB A>C	6	30691204	30691204	A	C	TUBB	c.365A>C	NM_178014.4	NP_821133.1:p.(Lys122Thr)	NC_000006.11:g.30691204A>C	VUS	1 lab	c98cd16cb8
3:119904153 GPR156 C>G	3	119904153	119904153	C	G	GPR156	c.689G>C	NM_153002.3	NP_694547.2:p.(Gly230Ala)	NC_000003.11:g.119904153C>G	VUS	1 lab	c98f0c4cff
X:69424321 DGAT2L6 G>A	X	69424321	69424321	G	A	DGAT2L6	c.814G>A	NM_198512.3	NP_940914.1:p.(Gly272Arg)	NC_000023.10:g.69424321G>A	VUS	1 lab	c990556078
5:16666838 MYO10 G>A	5	16666838	16666838	G	A	MYO10	c.6140C>T	NM_012334.3	NP_036466.2:p.(Thr2047Met)	NC_000005.9:g.16666838G>A	(Likely) benign	1 lab	c9905fd384
6:51915069 PKHD1 G>A	6	51915069	51915069	G	A	PKHD1	c.2165C>T	NM_138694.4	NP_619639.3:p.(Ala722Val)	NC_000006.11:g.51915069G>A	(Likely) benign	1 lab	c990a290f3
3:64132634 PRICKLE2 CCTTCCT>C	3	64132634	64132653	CCTTCCT	C	PRICKLE2	c.1526_1531del	NM_198859.4	NP_942559.1:p.(Glu509_Glu510del)	NC_000003.11:g.64132648_64132653del	VUS	1 lab	2af46f902d
3:14703201 CCDC174 C>T	3	14703201	14703201	C	T	CCDC174	c.472C>T	NM_016474.5	NP_057558.3:p.(Pro158Ser)	NC_000003.11:g.14703201C>T	(Likely) benign	1 lab	c9920f2323
8:61762737 CHD7 C>T	8	61762737	61762737	C	T	CHD7	c.5405-315C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61762737C>T	(Likely) benign	1 lab	c9925910e1
7:98553764 TRRAP C>T	7	98553764	98553764	C	T	TRRAP	c.5938-5C>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98553764C>T	VUS	1 lab	c992b03d69
14:33292835 AKAP6 T>C	14	33292835	33292835	T	C	AKAP6	c.5816T>C	NM_004274.5	NP_004265.3:p.(Met1939Thr)	NC_000014.8:g.33292835T>C	(Likely) benign	1 lab	c9933fe7cb
5:134369552 PITX1 C>A	5	134369552	134369552	C	A	PITX1	c.20G>T	NM_002653.5	NP_002644.4:p.(Gly7Val)	NC_000005.9:g.134369552C>A	VUS	1 lab	c994990652
9:109692929 ZNF462 G>A	9	109692929	109692929	G	A	ZNF462	c.5971G>A	NM_021224.6	NP_067047.4:p.(Val1991Ile)	NC_000009.11:g.109692929G>A	(Likely) benign	1 lab	c99533f5d2
16:1258076 CACNA1H C>G	16	1258076	1258076	C	G	CACNA1H	c.3218C>G	NM_021098.3	NP_066921.2:p.(Ser1073Cys)	NC_000016.9:g.1258076C>G	VUS	1 lab	c99609bfcb
4:152096400 SH3D19 G>A	4	152096400	152096400	G	A	SH3D19	c.956C>T	NM_001378122.1	NP_001365051.1:p.(Pro319Leu)	NC_000004.11:g.152096400G>A	VUS	1 lab	c99666d6d6
1:152281517 FLG G>C	1	152281517	152281517	G	C	FLG	c.5845C>G	NM_002016.2	NP_002007.1:p.(Gln1949Glu)	NC_000001.10:g.152281517G>C	(Likely) benign	1 lab	c997b8f487
15:42652248 CAPN3 C>T	15	42652248	42652248	C	T	CAPN3	c.245C>T	NM_000070.3	NP_000061.1:p.(Pro82Leu)	NC_000015.9:g.42652248C>T	(Likely) pathogenic	1 lab	c99a52a5cd
17:38028571 ZPBP2 C>T	17	38028571	38028571	C	T	ZPBP2	c.455C>T	NM_199321.3	NP_955353.1:p.(Thr152Ile)	NC_000017.10:g.38028571C>T	VUS	1 lab	c99abf4e2a
20:50408397 SALL4 T>A	20	50408397	50408397	T	A	SALL4	c.625A>T	NM_020436.5	NP_065169.1:p.(Asn209Tyr)	NC_000020.10:g.50408397T>A	VUS	1 lab	c99cc50b28
4:69197918 YTHDC1 G>GA	4	69197918	69197927	G	GA	YTHDC1	c.1028-4dup	NM_001031732.4	NP_001026902.1:p.?	NC_000004.11:g.69197927dup	(Likely) benign	1 lab	c99e063e5c
X:19984439 BCLAF3 C>CT	X	19984439	19984442	C	CT	BCLAF3	c.369dup	NM_001367774.2	NP_001354703.1:p.(Glu124ArgfsTer3)	NC_000023.10:g.19984442dup	VUS	1 lab	c9a2cdd70b
19:48946343 GRIN2D A>G	19	48946343	48946343	A	G	GRIN2D	c.3160A>G	NM_000836.4	NP_000827.2:p.(Ser1054Gly)	NC_000019.9:g.48946343A>G	(Likely) benign	1 lab	c9a318f6d0
3:12977686 IQSEC1 C>T	3	12977686	12977686	C	T	IQSEC1	c.830G>A	NM_001134382.3	NP_001127854.1:p.(Arg277His)	NC_000003.11:g.12977686C>T	VUS	1 lab	c9a3fec612
5:36995897 NIPBL G>A	5	36995897	36995897	G	A	NIPBL	c.3295G>A	NM_133433.4	NP_597677.2:p.(Ala1099Thr)	NC_000005.9:g.36995897G>A	(Likely) benign	1 lab	c9a4f679c9
20:21687610 PAX1 C>T	20	21687610	21687610	C	T	PAX1	c.821C>T	NM_001257096.2	NP_001244025.1:p.(Pro274Leu)	NC_000020.10:g.21687610C>T	VUS	1 lab	c9a5bc9711
6:51484233 PKHD1 G>A	6	51484233	51484233	G	A	PKHD1	c.11871C>T	NM_138694.4	NP_619639.3:p.(Arg3957=)	NC_000006.11:g.51484233G>A	(Likely) benign	1 lab	c9a7cfed48
9:139407878 NOTCH1 A>T	9	139407878	139407878	A	T	NOTCH1	c.2319T>A	NM_017617.5	NP_060087.3:p.(Ser773Arg)	NC_000009.11:g.139407878A>T	VUS	1 lab	c9a8818162
9:135946792 CEL C>G	9	135946792	135946792	C	G	CEL	c.1903C>G	NM_001807.6	NP_001798.3:p.(Pro635Ala)	NC_000009.11:g.135946792C>G	(Likely) benign	1 lab	c9a9d329b5
4:123111219 BLTP1 TACATGG>T	4	123111219	123111226	TACATGG	T	BLTP1	c.888_893del	NM_001384125.1	NP_001371054.1:p.(Met297_Asp298del)	NC_000004.11:g.123111221_123111226del	VUS	1 lab	c9aa15fa9b
16:71779076 AP1G1 A>G	16	71779076	71779076	A	G	AP1G1	c.1970T>C	NM_001128.6	NP_001119.3:p.(Leu657Pro)	NC_000016.9:g.71779076A>G	VUS	1 lab	c9abaa584d
11:614367 IRF7 T>C	11	614367	614367	T	C	IRF7	c.486A>G	NM_001572.5	NP_001563.2:p.(Thr162=)	NC_000011.9:g.614367T>C	(Likely) benign	1 lab	c9ac2905ec
6:70980008 COL9A1 A>G	6	70980008	70980008	A	G	COL9A1	c.1197+9T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70980008A>G	(Likely) benign	1 lab	c9ac8577fe
1:162473584 UHMK1 A>T	1	162473584	162473584	A	T	UHMK1	c.794A>T	NM_175866.5	NP_787062.1:p.(Lys265Ile)	NC_000001.10:g.162473584A>T	VUS	1 lab	c9ad0994e3
1:153786402 GATAD2B C>T	1	153786402	153786402	C	T	GATAD2B	c.1217-474G>A	NM_020699.4	NP_065750.1:p.?	NC_000001.10:g.153786402C>T	(Likely) benign	1 lab	c9aeb783b1
22:42610516 TCF20 C>G	22	42610516	42610516	C	G	TCF20	c.796G>C	NM_001378418.1	NP_001365347.1:p.(Val266Leu)	NC_000022.10:g.42610516C>G	VUS	1 lab	c9afcc7b7a
1:240371393 FMN2 C>T	1	240371393	240371393	C	T	FMN2	c.3281C>T	NM_020066.5	NP_064450.3:p.(Ala1094Val)	NC_000001.10:g.240371393C>T	(Likely) benign	1 lab	c9b17ba057
2:212293129 ERBB4 T>A	2	212293129	212293129	T	A	ERBB4	c.2719+4A>T	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212293129T>A	VUS	1 lab	c9b18fc289
13:103288039 TPP2 A>G	13	103288039	103288039	A	G	TPP2	c.1496A>G	NM_001330588.2	NP_001317517.1:p.(His499Arg)	NC_000013.10:g.103288039A>G	VUS	1 lab	c9b203f620
17:78897302 RPTOR G>A	17	78897302	78897302	G	A	RPTOR	c.2637G>A	NM_020761.3	NP_065812.1:p.(Pro879=)	NC_000017.10:g.78897302G>A	VUS	1 lab	c9b3130573
2:234359666 DGKD C>T	2	234359666	234359666	C	T	DGKD	c.2137C>T	NM_152879.3	NP_690618.2:p.(Pro713Ser)	NC_000002.11:g.234359666C>T	VUS	1 lab	c9b385032c
8:62430607 ASPH C>G	8	62430607	62430607	C	G	ASPH	c.1976G>C	NM_004318.4	NP_004309.2:p.(Gly659Ala)	NC_000008.10:g.62430607C>G	VUS	1 lab	c9b3cbfda7
15:90630421 IDH2 A>G	15	90630421	90630421	A	G	IDH2	c.890T>C	NM_002168.4	NP_002159.2:p.(Val297Ala)	NC_000015.9:g.90630421A>G	(Likely) benign	1 lab	c9b5335eb2
16:81942154 PLCG2 G>A	16	81942154	81942154	G	A	PLCG2	c.1691G>A	NM_002661.5	NP_002652.2:p.(Arg564Gln)	NC_000016.9:g.81942154G>A	VUS	1 lab	c9b8963809
7:31793053 PDE1C T>C	7	31793053	31793053	T	C	PDE1C	c.2075A>G	NM_001191057.4	NP_001177986.1:p.(Gln692Arg)	NC_000007.13:g.31793053T>C	VUS	1 lab	c9bae26181
16:1268384 CACNA1H G>T	16	1268384	1268384	G	T	CACNA1H	c.5620G>T	NM_021098.3	NP_066921.2:p.(Ala1874Ser)	NC_000016.9:g.1268384G>T	VUS	1 lab	c9bbb81075
14:102467295 DYNC1H1 G>A	14	102467295	102467295	G	A	DYNC1H1	c.4079G>A	NM_001376.5	NP_001367.2:p.(Arg1360Gln)	NC_000014.8:g.102467295G>A	VUS	1 lab	c9bc152028
19:50918124 POLD1 TCTC>T	19	50918124	50918131	TCTC	T	POLD1	c.2446_2448del	NM_002691.4	NP_002682.2:p.(Ser816del)	NC_000019.9:g.50918129_50918131del	VUS	1 lab	c9bc290dcc
10:33113448 CCDC7 A>G	10	33113448	33113448	A	G	CCDC7	c.3184A>G	NM_001395015.1	NP_001381944.1:p.(Thr1062Ala)	NC_000010.10:g.33113448A>G	(Likely) benign	1 lab	c9bc5d75f4
20:62065181 KCNQ2 C>T	20	62065181	62065181	C	T	KCNQ2	c.1099G>A	NM_172107.4	NP_742105.1:p.(Val367Ile)	NC_000020.10:g.62065181C>T	VUS	1 lab	c9c09b9dbf
15:91334026 BLM CTT>C	15	91334026	91334030	CTT	C	BLM	c.2974_2975del	NM_000057.4	NP_000048.1:p.(Phe992LeufsTer5)	NC_000015.9:g.91334029_91334030del	VUS	1 lab	c9c382f636
21:44485520 CBS G>A	21	44485520	44485520	G	A	CBS	c.643C>T	NM_000071.3	NP_000062.1:p.(Pro215Ser)	NC_000021.8:g.44485520G>A	VUS	1 lab	c9c4efd40f
3:132441268 NPHP3 T>C	3	132441268	132441268	T	C	NPHP3				NC_000003.11:g.132441268T>C	(Likely) benign	1 lab	2cf192c608
21:28211898 ADAMTS1 C>T	21	28211898	28211898	C	T	ADAMTS1	c.2028+8G>A	NM_006988.5	NP_008919.3:p.?	NC_000021.8:g.28211898C>T	VUS	1 lab	c9c62bf6ad
16:29809968 KIF22 C>T	16	29809968	29809968	C	T	KIF22	c.449C>T	NM_007317.3	NP_015556.1:p.(Ala150Val)	NC_000016.9:g.29809968C>T	(Likely) benign	1 lab	c9c634d65f
9:135946884 CEL C>T	9	135946884	135946884	C	T	CEL	c.1995C>T	NM_001807.6	NP_001798.3:p.(Ser665=)	NC_000009.11:g.135946884C>T	(Likely) benign	1 lab	c9c6edddfe
19:49000743 LMTK3 C>T	19	49000743	49000743	C	T	LMTK3	c.3583G>A	NM_001388485.1	NP_001375414.1:p.(Gly1195Arg)	NC_000019.9:g.49000743C>T	(Likely) benign	1 lab	c9c774512f
12:88442138 RLIG1 A>AT	12	88442138	88442144	A	AT	RLIG1	c.923dup	NM_001009894.3	NP_001009894.2:p.(Leu308PhefsTer5)	NC_000012.11:g.88442144dup	VUS	1 lab	c9d231ce09
2:112534638 ANAPC1 GAAGAGGA>G	2	112534638	112534652	GAAGAGGA	G	ANAPC1	c.5386-11_5386-5del	NM_022662.4	NP_073153.1:p.?	NC_000002.11:g.112534646_112534652del	(Likely) benign	1 lab	c9c8170abe
1:3740009 CEP104 T>C	1	3740009	3740009	T	C	CEP104	c.2482A>G	NM_014704.4	NP_055519.1:p.(Ile828Val)	NC_000001.10:g.3740009T>C	(Likely) benign	1 lab	c9c83688b5
1:2234746 SKI G>A	1	2234746	2234746	G	A	SKI	c.1118G>A	NM_003036.4	NP_003027.1:p.(Arg373His)	NC_000001.10:g.2234746G>A	(Likely) benign	1 lab	c9c8cf7b6f
X:49078982 CACNA1F C>T	X	49078982	49078982	C	T	CACNA1F	c.2287G>A	NM_001256789.3	NP_001243718.1:p.(Gly763Arg)	NC_000023.10:g.49078982C>T	(Likely) benign	1 lab	c9c90527a5
X:17819378 RAI2 CG>C	X	17819378	17819381	CG	C	RAI2	c.752del	NM_021785.6	NP_068557.4:p.(Pro251ArgfsTer38)	NC_000023.10:g.17819381del	VUS	1 lab	c9c9ce356b
16:2169112 PKD1 T>TA	16	2169112	2169113	T	TA	PKD1	c.359+2dup	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2169113dup	(Likely) pathogenic	1 lab	c9cb17e96b
8:68102977 CSPP1 T>C	8	68102977	68102977	T	C	CSPP1	c.3313T>C	NM_001382391.1	NP_001369320.1:p.(Trp1105Arg)	NC_000008.10:g.68102977T>C	(Likely) benign	1 lab	c9cc321246
2:233349904 ECEL1 A>G	2	233349904	233349904	A	G	ECEL1	c.855+5T>C	NM_004826.4	NP_004817.2:p.?	NC_000002.11:g.233349904A>G	(Likely) benign	1 lab	c9cc940de6
X:19443719 MAP3K15 T>C	X	19443719	19443719	T	C	MAP3K15	c.1369A>G	NM_001001671.4	NP_001001671.3:p.(Met457Val)	NC_000023.10:g.19443719T>C	(Likely) benign	1 lab	c9cce111a3
2:37454907 CEBPZ C>G	2	37454907	37454907	C	G	CEBPZ	c.1429G>C	NM_005760.3	NP_005751.2:p.(Asp477His)	NC_000002.11:g.37454907C>G	VUS	1 lab	c9cf2a27e0
1:237037148 MTR G>T	1	237037148	237037148	G	T	MTR	c.2473+8G>T	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.237037148G>T	(Likely) benign	1 lab	2cf2e63836
17:60753802 MRC2 A>G	17	60753802	60753802	A	G	MRC2	c.1744A>G	NM_006039.5	NP_006030.2:p.(Thr582Ala)	NC_000017.10:g.60753802A>G	VUS	1 lab	c9d1bd0852
9:117852975 TNC C>T	9	117852975	117852975	C	T	TNC	c.323G>A	NM_002160.4	NP_002151.2:p.(Arg108His)	NC_000009.11:g.117852975C>T	(Likely) benign	1 lab	c9d39df68d
15:34544473 SLC12A6 T>A	15	34544473	34544473	T	A	SLC12A6	c.1231A>T	NM_001365088.1	NP_001352017.1:p.(Asn411Tyr)	NC_000015.9:g.34544473T>A	VUS	1 lab	c9d485979a
9:135942258 CEL C>T	9	135942258	135942258	C	T	CEL	c.703C>T	NM_001807.6	NP_001798.3:p.(Arg235Ter)	NC_000009.11:g.135942258C>T	VUS	1 lab	c9d6a021e8
3:123383038 MYLK G>A	3	123383038	123383038	G	A	MYLK	c.3899C>T	NM_053025.4	NP_444253.3:p.(Ala1300Val)	NC_000003.11:g.123383038G>A	VUS	1 lab	c9d73e3463
13:22275486 FGF9 G>A	13	22275486	22275486	G	A	FGF9	c.539G>A	NM_002010.3	NP_002001.1:p.(Arg180Gln)	NC_000013.10:g.22275486G>A	VUS	1 lab	c9d794e945
9:35685662 TPM2 G>A	9	35685662	35685662	G	A	TPM2	c.356C>T	NM_003289.4	NP_003280.2:p.(Ala119Val)	NC_000009.11:g.35685662G>A	(Likely) benign	1 lab	c9d84ce8c5
1:202702923 KDM5B T>C	1	202702923	202702923	T	C	KDM5B	c.3515A>G	NM_006618.5	NP_006609.3:p.(Gln1172Arg)	NC_000001.10:g.202702923T>C	(Likely) benign	1 lab	c9d8fb3a21
1:220157559 EPRS1 A>T	1	220157559	220157559	A	T	EPRS1	c.3079T>A	NM_004446.3	NP_004437.2:p.(Trp1027Arg)	NC_000001.10:g.220157559A>T	VUS	1 lab	c9da555d25
10:104001078 PITX3 TCAAA>T	10	104001078	104001084	TCAAA	T	PITX3	c.-13+8_-13+11del	NM_005029.4	NP_005020.1:p.?	NC_000010.10:g.104001081_104001084del	(Likely) benign	1 lab	c9dac7ac5f
4:20270485 SLIT2 A>T	4	20270485	20270485	A	T	SLIT2	c.376A>T	NM_004787.4	NP_004778.1:p.(Thr126Ser)	NC_000004.11:g.20270485A>T	VUS	1 lab	c9db4e7627
11:5246959 HBB G>T	11	5246959	5246959	G	T	HBB	c.316-3C>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5246959G>T	(Likely) pathogenic	1 lab	c9db7069b7
18:33726306 ELP2 G>A	18	33726306	33726306	G	A	ELP2	c.1087G>A	NM_018255.4	NP_060725.1:p.(Gly363Arg)	NC_000018.9:g.33726306G>A	VUS	1 lab	c9db767043
8:11565911 GATA4 G>C	8	11565911	11565911	G	C	GATA4	c.90G>C	NM_001308093.3	NP_001295022.1:p.(Ala30=)	NC_000008.10:g.11565911G>C	(Likely) benign	1 lab	c9dd04bfe9
13:37401767 RFXAP TTTTC>T	13	37401767	37401776	TTTTC	T	RFXAP	c.709-7_709-4del	NM_000538.4	NP_000529.1:p.?	NC_000013.10:g.37401773_37401776del	(Likely) benign	1 lab	2cf4c80c63
3:58090854 FLNB G>A	3	58090854	58090854	G	A	FLNB	c.1658G>A	NM_001457.4	NP_001448.2:p.(Arg553His)	NC_000003.11:g.58090854G>A	VUS	1 lab	cae9feafbb
19:13318807 CACNA1A G>A	19	13318807	13318807	G	A	CACNA1A	c.6841C>T	NM_001127222.2	NP_001120694.1:p.(Arg2281Trp)	NC_000019.9:g.13318807G>A	(Likely) benign	1 lab	c9e3b53f9b
20:61453493 COL9A3 C>A	20	61453493	61453493	C	A	COL9A3	c.454C>A	NM_001853.4	NP_001844.3:p.(Pro152Thr)	NC_000020.10:g.61453493C>A	VUS	1 lab	c9e5086295
17:4446216 MYBBP1A C>T	17	4446216	4446216	C	T	MYBBP1A	c.2884G>A	NM_014520.4	NP_055335.2:p.(Gly962Ser)	NC_000017.10:g.4446216C>T	(Likely) benign	1 lab	c9e696abc6
2:27702428 IFT172 C>T	2	27702428	27702428	C	T	IFT172	c.953G>A	NM_015662.3	NP_056477.1:p.(Arg318Gln)	NC_000002.11:g.27702428C>T	VUS	1 lab	c9e7f2d0c4
17:11840831 DNAH9 G>A	17	11840831	11840831	G	A	DNAH9	c.12652G>A	NM_001372.4	NP_001363.2:p.(Glu4218Lys)	NC_000017.10:g.11840831G>A	VUS	1 lab	c9e9c86351
8:70744745 SLCO5A1 C>T	8	70744745	70744745	C	T	SLCO5A1	c.164G>A	NM_030958.3	NP_112220.2:p.(Gly55Glu)	NC_000008.10:g.70744745C>T	(Likely) benign	1 lab	c9ea730a54
20:18491546 SEC23B G>T	20	18491546	18491546	G	T	SEC23B	c.67G>T	NM_006363.6	NP_006354.2:p.(Val23Leu)	NC_000020.10:g.18491546G>T	(Likely) benign	1 lab	c9ea9c80b1
15:75650794 MAN2C1 C>G	15	75650794	75650794	C	G	MAN2C1	c.2403+9G>C	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75650794C>G	(Likely) benign	1 lab	c9eabf4ce2
13:32929092 BRCA2 T>G	13	32929092	32929092	T	G	BRCA2	c.7102T>G	NM_000059.4	NP_000050.3:p.(Leu2368Val)	NC_000013.10:g.32929092T>G	(Likely) benign	1 lab	c9eb86a27d
5:171765830 SH3PXD2B C>T	5	171765830	171765830	C	T	SH3PXD2B	c.2279G>A	NM_001017995.3	NP_001017995.1:p.(Arg760His)	NC_000005.9:g.171765830C>T	VUS	1 lab	c9ebcb5552
3:47139516 SETD2 C>T	3	47139516	47139516	C	T	SETD2	c.5071G>A	NM_014159.7	NP_054878.5:p.(Gly1691Arg)	NC_000003.11:g.47139516C>T	VUS	1 lab	c9eca9bed5
11:46341926 CREB3L1 G>T	11	46341926	46341926	G	T	CREB3L1	c.1370G>T	NM_052854.4	NP_443086.1:p.(Gly457Val)	NC_000011.9:g.46341926G>T	(Likely) benign	1 lab	c9ecbd86b9
14:79433545 NRXN3 TCCTAGGTATATACACTACG>T	14	79433545	79433564	TCCTAGGTATATACACTACG	T	NRXN3	c.2778-5_2791del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79433546_79433564del	(Likely) benign	1 lab	c9ee9fb466
X:68381165 PJA1 G>C	X	68381165	68381165	G	C	PJA1	c.1752C>G	NM_001032396.4	NP_001027568.1:p.(Phe584Leu)	NC_000023.10:g.68381165G>C	(Likely) benign	1 lab	c9efe66af1
17:78081526 GAA A>AGCAGCAG	17	78081526	78081529	A	AGCAGCAG	GAA	c.858+7_858+8insAGCAGGC	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081528_78081529insAGCAGGC	(Likely) benign	1 lab	c9f0decef2
16:16291983 ABCC6 A>G	16	16291983	16291983	A	G	ABCC6	c.1233T>C	NM_001171.6	NP_001162.5:p.(Asn411=)	NC_000016.9:g.16291983A>G	(Likely) benign	1 lab	2af8f03a9d
2:179616759 TTN G>A	2	179616759	179616759	G	A	TTN	c.11311+1092C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616759G>A	(Likely) benign	1 lab	c9f13f0947
18:2934454 LPIN2 T>TA	18	2934454	2934464	T	TA	LPIN2	c.1169-7dup	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2934464dup	(Likely) benign	1 lab	c9f1591c8b
17:39742644 KRT14 C>T	17	39742644	39742644	C	T	KRT14	c.443G>A	NM_000526.5	NP_000517.3:p.(Arg148His)	NC_000017.10:g.39742644C>T	VUS	1 lab	c9f22c4955
14:105179225 INF2 C>CG	14	105179225	105179228	C	CG	INF2	c.2674dup	NM_022489.4	NP_071934.3:p.(Glu892GlyfsTer8)	NC_000014.8:g.105179228dup	VUS	1 lab	c9f2dace1f
5:140559830 PCDHB8 G>C	5	140559830	140559830	G	C	PCDHB8	c.2215G>C	NM_019120.5	NP_061993.3:p.(Asp739His)	NC_000005.9:g.140559830G>C	VUS	1 lab	c9f5f3ecfe
3:196098829 UBXN7 G>A	3	196098829	196098829	G	A	UBXN7	c.553C>T	NM_015562.2	NP_056377.1:p.(Arg185Cys)	NC_000003.11:g.196098829G>A	VUS	1 lab	c9f99f6103
1:27874836 AHDC1 C>T	1	27874836	27874836	C	T	AHDC1	c.3791G>A	NM_001371928.1	NP_001358857.1:p.(Arg1264Gln)	NC_000001.10:g.27874836C>T	VUS	1 lab	c9fbe141ab
17:7487199 MPDU1 G>T	17	7487199	7487199	G	T	MPDU1	c.19G>T	NM_004870.4	NP_004861.2:p.(Gly7Ter)	NC_000017.10:g.7487199G>T	VUS	1 lab	c9fbe67332
9:91972972 SECISBP2 T>C	9	91972972	91972972	T	C	SECISBP2	c.2327T>C	NM_024077.5	NP_076982.3:p.(Met776Thr)	NC_000009.11:g.91972972T>C	VUS	1 lab	c9fe54c4b3
X:153908497 GAB3 C>G	X	153908497	153908497	C	G	GAB3	c.1559G>C	NM_001081573.3	NP_001075042.1:p.(Ser520Thr)	NC_000023.10:g.153908497C>G	(Likely) benign	1 lab	c9ffa2e87d
11:67816427 TCIRG1 A>G	11	67816427	67816427	A	G	TCIRG1	c.1636A>G	NM_006019.4	NP_006010.2:p.(Met546Val)	NC_000011.9:g.67816427A>G	VUS	1 lab	c9ffafc4be
12:51122361 DIP2B C>T	12	51122361	51122361	C	T	DIP2B	c.3541C>T	NM_173602.3	NP_775873.2:p.(Arg1181Ter)	NC_000012.11:g.51122361C>T	VUS	1 lab	c9fff0bf6a
3:139094323 COPB2 A>G	3	139094323	139094323	A	G	COPB2	c.638T>C	NM_004766.3	NP_004757.1:p.(Ile213Thr)	NC_000003.11:g.139094323A>G	VUS	1 lab	ca0051ae3e
8:70744167 SLCO5A1 G>A	8	70744167	70744167	G	A	SLCO5A1	c.742C>T	NM_030958.3	NP_112220.2:p.(Pro248Ser)	NC_000008.10:g.70744167G>A	(Likely) benign	1 lab	ca012006d1
12:113602036 DDX54 C>T	12	113602036	113602036	C	T	DDX54	c.1774G>A	NM_024072.4	NP_076977.3:p.(Ala592Thr)	NC_000012.11:g.113602036C>T	(Likely) benign	1 lab	ca0147f659
10:61932940 ANK3 C>T	10	61932940	61932940	C	T	ANK3	c.2189G>A	NM_020987.5	NP_066267.2:p.(Gly730Glu)	NC_000010.10:g.61932940C>T	VUS	1 lab	ca0184266a
9:111899757 FRRS1L T>C	9	111899757	111899757	T	C	FRRS1L	c.860A>G	NM_014334.4	NP_055149.3:p.(Tyr287Cys)	NC_000009.11:g.111899757T>C	VUS	1 lab	2afc06fd84
1:976112 AGRN G>A	1	976112	976112	G	A	AGRN	c.579G>A	NM_198576.4	NP_940978.2:p.(Ala193=)	NC_000001.10:g.976112G>A	(Likely) benign	1 lab	ca0275bf4d
17:39506782 KRT33A C>G	17	39506782	39506782	C	G	KRT33A	c.238G>C	NM_004138.4	NP_004129.2:p.(Asp80His)	NC_000017.10:g.39506782C>G	(Likely) benign	1 lab	ca02db2814
15:42700442 CAPN3 A>C	15	42700442	42700442	A	C	CAPN3	c.1834A>C	NM_000070.3	NP_000061.1:p.(Asn612His)	NC_000015.9:g.42700442A>C	VUS	1 lab	ca03390e3a
15:33842483 RYR3 C>A	15	33842483	33842483	C	A	RYR3	c.938C>A	NM_001036.6	NP_001027.3:p.(Thr313Asn)	NC_000015.9:g.33842483C>A	VUS	1 lab	ca03553c2f
19:39329055 HNRNPL G>A	19	39329055	39329055	G	A	HNRNPL	c.1539C>T	NM_001533.3	NP_001524.2:p.(Thr513=)	NC_000019.9:g.39329055G>A	VUS	1 lab	ca0384f937
18:31324160 ASXL3 T>G	18	31324160	31324160	T	G	ASXL3	c.4348T>G	NM_030632.3	NP_085135.1:p.(Ser1450Ala)	NC_000018.9:g.31324160T>G	(Likely) benign	1 lab	ca052e9266
16:2166527 PKD1 T>G	16	2166527	2166527	T	G	PKD1	c.1722+3A>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2166527T>G	(Likely) pathogenic	1 lab	ca05bd844d
X:118893527 SOWAHD G>A	X	118893527	118893527	G	A	SOWAHD	c.897G>A	NM_001105576.3	NP_001099046.1:p.(Ala299=)	NC_000023.10:g.118893527G>A	(Likely) benign	1 lab	ca05e0aa79
12:49579667 TUBA1A T>C	12	49579667	49579667	T	C	TUBA1A	c.482A>G	NM_006009.4	NP_006000.2:p.(Tyr161Cys)	NC_000012.11:g.49579667T>C	(Likely) pathogenic	1 lab	ca061b8cd4
16:2155388 PKD1 CCA>C	16	2155388	2155390	CCA	C	PKD1	c.7949_7950del	NM_001009944.3	NP_001009944.3:p.(Leu2650ArgfsTer10)	NC_000016.9:g.2155389_2155390del	(Likely) pathogenic	1 lab	ca06240251
2:220349387 SPEG G>A	2	220349387	220349387	G	A	SPEG	c.7202G>A	NM_005876.5	NP_005867.3:p.(Gly2401Glu)	NC_000002.11:g.220349387G>A	(Likely) benign	1 lab	ca144c759e
X:54784768 ITIH6 C>T	X	54784768	54784768	C	T	ITIH6	c.1739G>A	NM_198510.3	NP_940912.1:p.(Arg580His)	NC_000023.10:g.54784768C>T	(Likely) benign	1 lab	ca06d99393
2:179395530 TTN G>A	2	179395530	179395530	G	A	TTN	c.105812C>T	NM_001267550.2	NP_001254479.2:p.(Pro35271Leu)	NC_000002.11:g.179395530G>A	VUS	1 lab	ca075c2397
10:79782047 POLR3A C>T	10	79782047	79782047	C	T	POLR3A	c.741G>A	NM_007055.4	NP_008986.2:p.(Pro247=)	NC_000010.10:g.79782047C>T	(Likely) benign	1 lab	ca083de6e8
20:3682292 SIGLEC1 T>C	20	3682292	3682292	T	C	SIGLEC1	c.1229-4A>G	NM_023068.4	NP_075556.1:p.?	NC_000020.10:g.3682292T>C	(Likely) benign	1 lab	ca08c13920
20:25199232 ENTPD6 G>A	20	25199232	25199232	G	A	ENTPD6	c.925G>A	NM_001247.5	NP_001238.3:p.(Gly309Ser)	NC_000020.10:g.25199232G>A	VUS	1 lab	ca0b0bc5a5
17:71201726 COG1 C>T	17	71201726	71201726	C	T	COG1	c.2417C>T	NM_018714.3	NP_061184.1:p.(Ala806Val)	NC_000017.10:g.71201726C>T	VUS	1 lab	ca0bb1a65a
9:135947069 CEL CCACGGGTGACTCTGAGGCTGCCCCT>C	9	135947069	135947094	CCACGGGTGACTCTGAGGCTGCCCCT	C	CEL	c.2181_2205del	NM_001807.6	NP_001798.3:p.(Thr728CysfsTer22)	NC_000009.11:g.135947070_135947094del	(Likely) benign	1 lab	ca0d440fcd
2:48701880 PPP1R21 G>C	2	48701880	48701880	G	C	PPP1R21	c.1147G>C	NM_001135629.3	NP_001129101.1:p.(Glu383Gln)	NC_000002.11:g.48701880G>C	VUS	1 lab	ca0e6c190c
7:96635420 DLX6 A>AGCCGCC	7	96635420	96635449	A	AGCCGCC	DLX6	c.155_160dup	NM_005222.4	NP_005213.3:p.(Pro52_Pro53dup)	NC_000007.13:g.96635444_96635449dup	(Likely) benign	1 lab	ca0f2d8abd
19:12740050 ZNF791 AC>A	19	12740050	12740051	AC	A	ZNF791	c.1708del	NM_153358.3	NP_699189.2:p.(His570IlefsTer2)	NC_000019.9:g.12740051del	VUS	1 lab	ca10e02b6e
4:6302471 WFS1 A>C	4	6302471	6302471	A	C	WFS1	c.949A>C	NM_006005.3	NP_005996.2:p.(Thr317Pro)	NC_000004.11:g.6302471A>C	VUS	1 lab	ca11ec57ba
11:71817089 LRTOMT T>G	11	71817089	71817089	T	G	LRTOMT	c.191T>G	NM_001145309.4	NP_001138781.1:p.(Val64Gly)	NC_000011.9:g.71817089T>G	VUS	1 lab	2afc17133a
1:27877956 AHDC1 CCCGTGGCCGCAG>C	1	27877956	27877975	CCCGTGGCCGCAG	C	AHDC1	c.659_670del	NM_001371928.1	NP_001358857.1:p.(Ala220_Thr223del)	NC_000001.10:g.27877964_27877975del	VUS	1 lab	ca1458936f
4:140281762 NAA15 A>T	4	140281762	140281762	A	T	NAA15	c.1519A>T	NM_057175.5	NP_476516.1:p.(Lys507Ter)	NC_000004.11:g.140281762A>T	(Likely) pathogenic	1 lab	ca1617bd70
4:1807556 FGFR3 G>A	4	1807556	1807556	G	A	FGFR3	c.1725G>A	NM_000142.5	NP_000133.1:p.(Leu575=)	NC_000004.11:g.1807556G>A	(Likely) benign	1 lab	ca168cbc83
15:45706835 AFG2B G>T	15	45706835	45706835	G	T	AFG2B	c.1501G>T	NM_024063.3	NP_076968.2:p.(Val501Phe)	NC_000015.9:g.45706835G>T	VUS	1 lab	ca17a247e1
7:100240936 ACTL6B T>A	7	100240936	100240936	T	A	ACTL6B	c.1214A>T	NM_016188.5	NP_057272.1:p.(Gln405Leu)	NC_000007.13:g.100240936T>A	VUS	1 lab	ca1951a32f
16:30098102 TBX6 C>T	16	30098102	30098102	C	T	TBX6	c.910G>A	NM_004608.4	NP_004599.2:p.(Gly304Arg)	NC_000016.9:g.30098102C>T	(Likely) benign	1 lab	ca1a7bdf27
X:19367035 PDHA1 C>A	X	19367035	19367035	C	A	PDHA1	c.58-395C>A	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19367035C>A	(Likely) benign	1 lab	ca1b4cbf44
12:122295275 HPD C>T	12	122295275	122295275	C	T	HPD	c.157G>A	NM_002150.3	NP_002141.2:p.(Gly53Ser)	NC_000012.11:g.122295275C>T	VUS	1 lab	ca1be7c79a
2:202512466 MPP4 G>A	2	202512466	202512466	G	A	MPP4	c.1667C>T	NM_033066.3	NP_149055.2:p.(Ser556Phe)	NC_000002.11:g.202512466G>A	VUS	1 lab	ca1d447d6e
8:99148926 POP1 C>T	8	99148926	99148926	C	T	POP1	c.1228C>T	NM_001145860.2	NP_001139332.1:p.(Pro410Ser)	NC_000008.10:g.99148926C>T	(Likely) benign	1 lab	ca1dc0231c
8:94808128 TMEM67 G>A	8	94808128	94808128	G	A	TMEM67	c.1774-1G>A	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94808128G>A	VUS	1 lab	ca1fba8344
16:4752107 ANKS3 ACTG>A	16	4752107	4752127	ACTG	A	ANKS3	c.1002_1004del	NM_133450.4	NP_597707.1:p.(Ser335del)	NC_000016.9:g.4752125_4752127del	(Likely) benign	1 lab	ca1fc4c477
1:204129789 REN C>T	1	204129789	204129789	C	T	REN	c.391G>A	NM_000537.4	NP_000528.1:p.(Asp131Asn)	NC_000001.10:g.204129789C>T	(Likely) benign	1 lab	ca221d6567
17:17697023 RAI1 G>T	17	17697023	17697023	G	T	RAI1	c.761G>T	NM_030665.4	NP_109590.3:p.(Ser254Ile)	NC_000017.10:g.17697023G>T	(Likely) benign	1 lab	ca2275f345
2:152436014 NEB G>C	2	152436014	152436014	G	C	NEB	c.16542C>G	NM_001164508.2	NP_001157980.2:p.(Ala5514=)	NC_000002.11:g.152436014G>C	(Likely) benign	1 lab	ca2283a150
9:135942564 CEL C>T	9	135942564	135942564	C	T	CEL	c.867C>T	NM_001807.6	NP_001798.3:p.(Ala289=)	NC_000009.11:g.135942564C>T	(Likely) benign	1 lab	ca23c1fb43
16:226692 HBA1 C>G	16	226692	226692	C	G	HBA1	c.-24C>G	NM_000558.5	NP_000549.1:p.?	NC_000016.9:g.226692C>G	(Likely) benign	1 lab	2cfd62f529
16:83933143 MLYCD G>A	16	83933143	83933143	G	A	MLYCD	c.394G>A	NM_012213.3	NP_036345.2:p.(Ala132Thr)	NC_000016.9:g.83933143G>A	VUS	1 lab	ca24616f49
11:71195501 NADSYN1 C>T	11	71195501	71195501	C	T	NADSYN1	c.1455+8C>T	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71195501C>T	(Likely) benign	1 lab	ca24be721f
1:68897144 RPE65 A>G	1	68897144	68897144	A	G	RPE65	c.1243+10T>C	NM_000329.3	NP_000320.1:p.?	NC_000001.10:g.68897144A>G	(Likely) benign	1 lab	ca2594b9c1
17:78314114 RNF213 C>T	17	78314114	78314114	C	T	RNF213	c.5947C>T	NM_001256071.3	NP_001243000.2:p.(Arg1983Trp)	NC_000017.10:g.78314114C>T	VUS	1 lab	ca263b93fc
16:3778327 CREBBP G>A	16	3778327	3778327	G	A	CREBBP	c.6721C>T	NM_004380.3	NP_004371.2:p.(Pro2241Ser)	NC_000016.9:g.3778327G>A	VUS	1 lab	ca272850b3
2:197709250 PGAP1 C>T	2	197709250	197709250	C	T	PGAP1	c.2335G>A	NM_024989.4	NP_079265.2:p.(Val779Met)	NC_000002.11:g.197709250C>T	VUS	1 lab	ca27edab88
1:1469412 ATAD3A C>G	1	1469412	1469412	C	G	ATAD3A	c.1721C>G	NM_001170535.3	NP_001164006.1:p.(Ala574Gly)	NC_000001.10:g.1469412C>G	VUS	1 lab	ca29af57a4
2:206592672 NRP2 A>G	2	206592672	206592672	A	G	NRP2	c.1048A>G	NM_003872.3	NP_003863.2:p.(Arg350Gly)	NC_000002.11:g.206592672A>G	VUS	1 lab	ca29edc123
X:49113997 FOXP3 C>T	X	49113997	49113997	C	T	FOXP3	c.341G>A	NM_014009.4	NP_054728.2:p.(Arg114Gln)	NC_000023.10:g.49113997C>T	VUS	1 lab	ca29f9ceed
17:10535031 MYH3 T>C	17	10535031	10535031	T	C	MYH3	c.5183A>G	NM_002470.4	NP_002461.2:p.(Lys1728Arg)	NC_000017.10:g.10535031T>C	VUS	1 lab	ca2a0415e8
4:104115535 CENPE C>T	4	104115535	104115535	C	T	CENPE	c.623G>A	NM_001813.3	NP_001804.2:p.(Arg208Lys)	NC_000004.11:g.104115535C>T	VUS	1 lab	ca2a87b8c1
1:155204793 GBA1 C>T	1	155204793	155204793	C	T	GBA1	c.1604G>A	NM_000157.4	NP_000148.2:p.(Arg535His)	NC_000001.10:g.155204793C>T	(Likely) pathogenic	1 lab	ca2c445837
19:16980691 SIN3B T>G	19	16980691	16980691	T	G	SIN3B	c.2227T>G	NM_001297595.2	NP_001284524.1:p.(Phe743Val)	NC_000019.9:g.16980691T>G	VUS	1 lab	ca2d08f6cb
X:27766342 DCAF8L2 G>A	X	27766342	27766342	G	A	DCAF8L2	c.1330G>A	NM_001353450.2	NP_001340379.1:p.(Asp444Asn)	NC_000023.10:g.27766342G>A	VUS	1 lab	ca2ec5889c
1:237433625 RYR2 C>T	1	237433625	237433625	C	T	RYR2	c.49-172C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237433625C>T	(Likely) benign	1 lab	2afce575cd
19:54314374 NLRP12 C>T	19	54314374	54314374	C	T	NLRP12	c.539G>A	NM_144687.4	NP_653288.1:p.(Gly180Asp)	NC_000019.9:g.54314374C>T	(Likely) benign	1 lab	ca2ef61803
7:48391990 ABCA13 G>A	7	48391990	48391990	G	A	ABCA13	c.10594G>A	NM_152701.5	NP_689914.3:p.(Glu3532Lys)	NC_000007.13:g.48391990G>A	VUS	1 lab	ca2fd0b4b2
2:179593365 TTN A>G	2	179593365	179593365	A	G	TTN	c.19288T>C	NM_001267550.2	NP_001254479.2:p.(Tyr6430His)	NC_000002.11:g.179593365A>G	VUS	1 lab	ca31847976
4:1803152 FGFR3 C>T	4	1803152	1803152	C	T	FGFR3	c.504C>T	NM_000142.5	NP_000133.1:p.(Ala168=)	NC_000004.11:g.1803152C>T	(Likely) benign	1 lab	ca33294acf
17:42332752 SLC4A1 C>G	17	42332752	42332752	C	G	SLC4A1	c.1801-88G>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42332752C>G	(Likely) benign	1 lab	2cfd98950a
7:152099152 KMT2C G>A	7	152099152	152099152	G	A	KMT2C	c.161+33559C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099152G>A	(Likely) benign	1 lab	ca34c6459e
15:52539171 MYO5C G>A	15	52539171	52539171	G	A	MYO5C	c.1922C>T	NM_018728.4	NP_061198.2:p.(Ala641Val)	NC_000015.9:g.52539171G>A	(Likely) benign	1 lab	ca35065f27
6:44274985 AARS2 C>T	6	44274985	44274985	C	T	AARS2	c.1040+1G>A	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44274985C>T	VUS	1 lab	ca354b3a8b
7:124532374 POT1 T>C	7	124532374	124532374	T	C	POT1	c.70A>G	NM_015450.3	NP_056265.2:p.(Asn24Asp)	NC_000007.13:g.124532374T>C	(Likely) benign	1 lab	ca36397093
5:137713412 KDM3B G>C	5	137713412	137713412	G	C	KDM3B	c.478G>C	NM_016604.4	NP_057688.3:p.(Gly160Arg)	NC_000005.9:g.137713412G>C	VUS	1 lab	ca36d3f889
6:85473898 TBX18 A>C	6	85473898	85473898	A	C	TBX18	c.2T>G	NM_001080508.3	NP_001073977.1:p.(Met1?)	NC_000006.11:g.85473898A>C	VUS	1 lab	ca38a15240
20:3730872 HSPA12B C>T	20	3730872	3730872	C	T	HSPA12B	c.1299C>T	NM_052970.5	NP_443202.3:p.(Ser433=)	NC_000020.10:g.3730872C>T	VUS	1 lab	ca39872834
12:56495751 ERBB3 G>A	12	56495751	56495751	G	A	ERBB3	c.3941G>A	NM_001982.4	NP_001973.2:p.(Arg1314His)	NC_000012.11:g.56495751G>A	VUS	1 lab	ca3b5fc869
7:104754088 KMT2E A>ATTAT	7	104754088	104754094	A	ATTAT	KMT2E	c.*311_*314dup	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104754091_104754094dup	VUS	1 lab	ca3ba728aa
14:55451527 WDHD1 C>G	14	55451527	55451527	C	G	WDHD1	c.1820G>C	NM_007086.4	NP_009017.1:p.(Gly607Ala)	NC_000014.8:g.55451527C>G	(Likely) benign	1 lab	ca3c2c105a
2:241904835 CROCC2 G>A	2	241904835	241904835	G	A	CROCC2	c.3503G>A	NM_001351305.2	NP_001338234.1:p.(Gly1168Glu)	NC_000002.11:g.241904835G>A	VUS	1 lab	ca3d19f038
21:46930090 COL18A1 G>A	21	46930090	46930090	G	A	COL18A1	c.3608G>A	NM_001379500.1	NP_001366429.1:p.(Arg1203His)	NC_000021.8:g.46930090G>A	VUS	1 lab	ca3f0f916a
2:32693596 BIRC6 C>T	2	32693596	32693596	C	T	BIRC6	c.5872C>T	NM_016252.4	NP_057336.3:p.(Arg1958Ter)	NC_000002.11:g.32693596C>T	VUS	1 lab	ca3f23ab4c
17:78395677 ENDOV C>T	17	78395677	78395677	C	T	ENDOV	c.278C>T	NM_173627.5	NP_775898.2:p.(Ser93Leu)	NC_000017.10:g.78395677C>T	VUS	1 lab	ca3f25e762
13:32972533 BRCA2 C>T	13	32972533	32972533	C	T	BRCA2	c.9883C>T	NM_000059.4	NP_000050.3:p.(Gln3295Ter)	NC_000013.10:g.32972533C>T	(Likely) pathogenic	1 lab	2afe793016
2:167089816 SCN9A A>T	2	167089816	167089816	A	T	SCN9A	c.3891+34T>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089816A>T	(Likely) benign	1 lab	2cffe2d282
X:153052407 IDH3G G>A	X	153052407	153052407	G	A	IDH3G	c.778-5C>T	NM_004135.4	NP_004126.1:p.?	NC_000023.10:g.153052407G>A	VUS	1 lab	ca42037e2a
14:103497159 CDC42BPB A>G	14	103497159	103497159	A	G	CDC42BPB	c.176-18634T>C	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103497159A>G	(Likely) benign	1 lab	ca432bbcdf
19:10291026 DNMT1 G>A	19	10291026	10291026	G	A	DNMT1	c.445C>T	NM_001130823.3	NP_001124295.1:p.(Arg149Cys)	NC_000019.9:g.10291026G>A	(Likely) benign	1 lab	ca4b1029d6
7:140624403 BRAF GCGGCGC>G	7	140624403	140624425	GCGGCGC	G	BRAF	c.95_100del	NM_004333.6	NP_004324.2:p.(Gly32_Ala33del)	NC_000007.13:g.140624420_140624425del	(Likely) benign	1 lab	ca43a4d515
15:72190889 MYO9A G>A	15	72190889	72190889	G	A	MYO9A	c.3955C>T	NM_006901.4	NP_008832.2:p.(Arg1319Trp)	NC_000015.9:g.72190889G>A	VUS	1 lab	ca43d03865
X:150912056 CNGA2 G>A	X	150912056	150912056	G	A	CNGA2	c.1081G>A	NM_005140.3	NP_005131.1:p.(Val361Ile)	NC_000023.10:g.150912056G>A	(Likely) benign	1 lab	ca43f3de2c
3:58087992 FLNB C>T	3	58087992	58087992	C	T	FLNB	c.1408C>T	NM_001457.4	NP_001448.2:p.(Arg470Trp)	NC_000003.11:g.58087992C>T	VUS	1 lab	ca4465b23f
2:149221365 MBD5 G>A	2	149221365	149221365	G	A	MBD5	c.274G>A	NM_001378120.1	NP_001365049.1:p.(Ala92Thr)	NC_000002.11:g.149221365G>A	VUS	1 lab	ca56a4aaf6
17:58740694 PPM1D C>CTT	17	58740694	58740697	C	CTT	PPM1D	c.1601_1602dup	NM_003620.4	NP_003611.1:p.(Lys535LeufsTer5)	NC_000017.10:g.58740696_58740697dup	VUS	1 lab	ca4576d946
16:50348311 ADCY7 C>T	16	50348311	50348311	C	T	ADCY7	c.2965C>T	NM_001114.5	NP_001105.1:p.(Arg989Cys)	NC_000016.9:g.50348311C>T	VUS	1 lab	ca46f59ab1
18:2940651 LPIN2 G>A	18	2940651	2940651	G	A	LPIN2	c.650C>T	NM_014646.2	NP_055461.1:p.(Ser217Phe)	NC_000018.9:g.2940651G>A	VUS	1 lab	2cfff1e6d3
8:41832259 KAT6A A>T	8	41832259	41832259	A	T	KAT6A	c.1445T>A	NM_006766.5	NP_006757.2:p.(Met482Lys)	NC_000008.10:g.41832259A>T	(Likely) benign	1 lab	ca48a6e65e
17:41242983 BRCA1 TGA>T	17	41242983	41242988	TGA	T	BRCA1	c.4161_4162del	NM_007294.4	NP_009225.1:p.(Gln1388GlufsTer2)	NC_000017.10:g.41242987_41242988del	(Likely) pathogenic	1 lab	ca493dc8fa
7:91852258 KRIT1 G>A	7	91852258	91852258	G	A	KRIT1	c.1289C>T	NM_194454.3	NP_919436.1:p.(Ser430Leu)	NC_000007.13:g.91852258G>A	VUS	1 lab	ca49adbc88
7:47894496 PKD1L1 C>T	7	47894496	47894496	C	T	PKD1L1	c.4843G>A	NM_138295.5	NP_612152.1:p.(Val1615Ile)	NC_000007.13:g.47894496C>T	(Likely) benign	1 lab	ca4b082689
2:152484297 NEB G>A	2	152484297	152484297	G	A	NEB	c.9883C>T	NM_001164508.2	NP_001157980.2:p.(Arg3295Trp)	NC_000002.11:g.152484297G>A	VUS	1 lab	ca4bf2f3fc
20:35884838 GHRH G>A	20	35884838	35884838	G	A	GHRH	c.147C>T	NM_021081.6	NP_066567.1:p.(Ser49=)	NC_000020.10:g.35884838G>A	(Likely) benign	1 lab	ca4c06f695
2:60689424 BCL11A G>A	2	60689424	60689424	G	A	BCL11A	c.623C>T	NM_022893.4	NP_075044.2:p.(Thr208Ile)	NC_000002.11:g.60689424G>A	VUS	1 lab	ca4c3164be
6:143095771 HIVEP2 C>G	6	143095771	143095771	C	G	HIVEP2	c.105G>C	NM_006734.4	NP_006725.3:p.(Lys35Asn)	NC_000006.11:g.143095771C>G	VUS	1 lab	ca4c68a3c8
12:124220140 ATP6V0A2 G>A	12	124220140	124220140	G	A	ATP6V0A2	c.794G>A	NM_012463.4	NP_036595.2:p.(Gly265Glu)	NC_000012.11:g.124220140G>A	(Likely) benign	1 lab	ca4d820b00
X:106198135 MORC4 T>C	X	106198135	106198135	T	C	MORC4	c.1685+8A>G	NM_024657.5	NP_078933.3:p.?	NC_000023.10:g.106198135T>C	(Likely) benign	1 lab	ca4d893313
1:170521493 GORAB GT>G	1	170521493	170521496	GT	G	GORAB	c.1003del	NM_152281.3	NP_689494.3:p.(Ser335ProfsTer4)	NC_000001.10:g.170521496del	VUS	1 lab	ca4d9f35e0
2:150438643 MMADHC A>G	2	150438643	150438643	A	G	MMADHC	c.152T>C	NM_015702.3	NP_056517.1:p.(Ile51Thr)	NC_000002.11:g.150438643A>G	VUS	1 lab	ca4e2ad0d3
9:94058308 AUH C>T	9	94058308	94058308	C	T	AUH	c.650G>A	NM_001698.3	NP_001689.1:p.(Gly217Asp)	NC_000009.11:g.94058308C>T	(Likely) pathogenic	1 lab	ca51b3e94d
14:21868737 CHD8 G>A	14	21868737	21868737	G	A	CHD8	c.4405C>T	NM_001170629.2	NP_001164100.1:p.(Arg1469Cys)	NC_000014.8:g.21868737G>A	VUS	1 lab	ca56c84bba
16:29816618 KIF22 G>A	16	29816618	29816618	G	A	KIF22	c.1985G>A	NM_007317.3	NP_015556.1:p.(Cys662Tyr)	NC_000016.9:g.29816618G>A	VUS	1 lab	ca57ed3313
1:154932053 PYGO2 C>T	1	154932053	154932053	C	T	PYGO2	c.423G>A	NM_138300.4	NP_612157.1:p.(Met141Ile)	NC_000001.10:g.154932053C>T	VUS	1 lab	ca582f47a5
17:12656041 MYOCD C>G	17	12656041	12656041	C	G	MYOCD	c.1436C>G	NM_001146312.3	NP_001139784.1:p.(Ser479Cys)	NC_000017.10:g.12656041C>G	VUS	1 lab	ca591ecddf
15:33920696 RYR3 A>G	15	33920696	33920696	A	G	RYR3	c.2599A>G	NM_001036.6	NP_001027.3:p.(Lys867Glu)	NC_000015.9:g.33920696A>G	VUS	1 lab	ca5ae5d377
11:69949276 ANO1 T>G	11	69949276	69949276	T	G	ANO1	c.540+6T>G	NM_018043.7	NP_060513.5:p.?	NC_000011.9:g.69949276T>G	VUS	1 lab	ca5bfc62e7
14:63174329 KCNH5 G>A	14	63174329	63174329	G	A	KCNH5	c.2864C>T	NM_139318.5	NP_647479.2:p.(Ser955Phe)	NC_000014.8:g.63174329G>A	(Likely) benign	1 lab	ca5c988074
7:6623032 ZDHHC4 T>G	7	6623032	6623032	T	G	ZDHHC4	c.466T>G	NM_001134389.2	NP_001127861.1:p.(Leu156Val)	NC_000007.13:g.6623032T>G	(Likely) benign	1 lab	ca5d1abaea
17:12921011 ELAC2 TTGAC>T	17	12921011	12921019	TTGAC	T	ELAC2	c.245+5_245+8del	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12921016_12921019del	VUS	1 lab	ca5f36855f
1:152286595 FLG A>AT	1	152286595	152286599	A	AT	FLG	c.766dup	NM_002016.2	NP_002007.1:p.(Ile256AsnfsTer3)	NC_000001.10:g.152286599dup	VUS	1 lab	ca5fb1c9f0
1:205035727 CNTN2 A>G	1	205035727	205035727	A	G	CNTN2	c.1975A>G	NM_005076.5	NP_005067.1:p.(Asn659Asp)	NC_000001.10:g.205035727A>G	(Likely) benign	1 lab	ca611d2e26
16:2231837 CASKIN1 C>T	16	2231837	2231837	C	T	CASKIN1	c.1723G>A	NM_020764.4	NP_065815.1:p.(Asp575Asn)	NC_000016.9:g.2231837C>T	VUS	1 lab	ca6211fdc1
3:145803060 PLOD2 C>T	3	145803060	145803060	C	T	PLOD2	c.1128G>A	NM_182943.3	NP_891988.1:p.(Met376Ile)	NC_000003.11:g.145803060C>T	(Likely) benign	1 lab	ca6224a5d0
12:80616025 OTOGL G>A	12	80616025	80616025	G	A	OTOGL	c.489G>A	NM_001378609.3	NP_001365538.2:p.(Trp163Ter)	NC_000012.11:g.80616025G>A	(Likely) pathogenic	1 lab	ca629b518b
14:91780011 CCDC88C G>A	14	91780011	91780011	G	A	CCDC88C	c.2149C>T	NM_001080414.4	NP_001073883.2:p.(Arg717Cys)	NC_000014.8:g.91780011G>A	VUS	1 lab	ca629e1ed9
3:27462220 SLC4A7 G>A	3	27462220	27462220	G	A	SLC4A7	c.1483C>T	NM_001321103.2	NP_001308032.1:p.(Arg495Ter)	NC_000003.11:g.27462220G>A	VUS	1 lab	ca65e9c3a9
1:168073820 GPR161 C>A	1	168073820	168073820	C	A	GPR161	c.269G>T	NM_001375883.1	NP_001362812.1:p.(Arg90Leu)	NC_000001.10:g.168073820C>A	(Likely) benign	1 lab	ca673770da
21:34925867 SON A>G	21	34925867	34925867	A	G	SON	c.4330A>G	NM_138927.4	NP_620305.3:p.(Thr1444Ala)	NC_000021.8:g.34925867A>G	(Likely) benign	1 lab	ca68164508
15:40564566 PAK6 C>T	15	40564566	40564566	C	T	PAK6	c.1000C>T	NM_001395430.1	NP_001382359.1:p.(Arg334Cys)	NC_000015.9:g.40564566C>T	(Likely) benign	1 lab	ca68925308
19:36219983 KMT2B G>T	19	36219983	36219983	G	T	KMT2B	c.4779+6G>T	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36219983G>T	(Likely) benign	1 lab	ca68dbc569
2:179611823 TTN T>C	2	179611823	179611823	T	C	TTN	c.11312-5175A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611823T>C	(Likely) benign	1 lab	ca68ed737e
20:61981710 CHRNA4 G>A	20	61981710	61981710	G	A	CHRNA4	c.1053C>T	NM_000744.6	NP_000735.1:p.(Ile351=)	NC_000020.10:g.61981710G>A	(Likely) benign	1 lab	2d04c27ba2
2:179435357 TTN T>G	2	179435357	179435357	T	G	TTN	c.75502A>C	NM_001267550.2	NP_001254479.2:p.(Ser25168Arg)	NC_000002.11:g.179435357T>G	(Likely) benign	1 lab	ca6c0902dd
12:7083574 EMG1 G>T	12	7083574	7083574	G	T	EMG1	c.242G>T	NM_006331.8	NP_006322.4:p.(Gly81Val)	NC_000012.11:g.7083574G>T	VUS	1 lab	ca6e4b43b9
8:48794597 PRKDC T>C	8	48794597	48794597	T	C	PRKDC	c.4838A>G	NM_006904.7	NP_008835.5:p.(His1613Arg)	NC_000008.10:g.48794597T>C	(Likely) benign	1 lab	ca6f8e2caa
18:10699045 PIEZO2 G>A	18	10699045	10699045	G	A	PIEZO2	c.6572C>T	NM_001378183.1	NP_001365112.1:p.(Ala2191Val)	NC_000018.9:g.10699045G>A	(Likely) benign	1 lab	ca71c06d8f
14:91744393 CCDC88C T>A	14	91744393	91744393	T	A	CCDC88C	c.4931A>T	NM_001080414.4	NP_001073883.2:p.(Glu1644Val)	NC_000014.8:g.91744393T>A	(Likely) benign	1 lab	ca7231d378
14:95572062 DICER1 T>C	14	95572062	95572062	T	C	DICER1	c.3046A>G	NM_177438.3	NP_803187.1:p.(Ser1016Gly)	NC_000014.8:g.95572062T>C	VUS	1 lab	ca7270e4a5
6:110536513 CDC40 C>T	6	110536513	110536513	C	T	CDC40	c.967C>T	NM_015891.3	NP_056975.1:p.(Arg323Cys)	NC_000006.11:g.110536513C>T	VUS	1 lab	ca74e922fb
8:20022577 SLC18A1 A>C	8	20022577	20022577	A	C	SLC18A1	c.900T>G	NM_003053.4	NP_003044.1:p.(Pro300=)	NC_000008.10:g.20022577A>C	VUS	1 lab	caa06b86cb
1:156640677 NES CGGG>C	1	156640677	156640680	CGGG	C	NES	c.3300_3302del	NM_006617.2	NP_006608.1:p.(Pro1101del)	NC_000001.10:g.156640678_156640680del	(Likely) benign	1 lab	ca755c5455
2:69300171 ANTXR1 G>A	2	69300171	69300171	G	A	ANTXR1	c.430G>A	NM_032208.3	NP_115584.1:p.(Val144Ile)	NC_000002.11:g.69300171G>A	VUS	1 lab	ca75c766af
16:2161422 PKD1 TC>T	16	2161422	2161427	TC	T	PKD1	c.3745del	NM_001009944.3	NP_001009944.3:p.(Asp1249ThrfsTer24)	NC_000016.9:g.2161427del	(Likely) pathogenic	1 lab	ca761af106
3:53845162 CACNA1D G>A	3	53845162	53845162	G	A	CACNA1D	c.6215G>A	NM_001128840.3	NP_001122312.1:p.(Gly2072Glu)	NC_000003.11:g.53845162G>A	VUS	1 lab	ca76d80e47
17:40695522 NAGLU AGT>A	17	40695522	40695528	AGT	A	NAGLU	c.1503_1504del	NM_000263.4	NP_000254.2:p.(Tyr502GlnfsTer13)	NC_000017.10:g.40695527_40695528del	VUS	1 lab	ca77119bc6
17:61995861 GH1 G>T	17	61995861	61995861	G	T	GH1	c.16C>A	NM_000515.5	NP_000506.2:p.(Arg6=)	NC_000017.10:g.61995861G>T	(Likely) benign	1 lab	ca77a6a700
8:12043004 FAM86B1 G>A	8	12043004	12043004	G	A	FAM86B1	c.671C>T	NM_001083537.4	NP_001077006.1:p.(Ser224Leu)	NC_000008.10:g.12043004G>A	(Likely) benign	1 lab	ca78e1080c
5:112824036 MCC T>TGCC	5	112824036	112824039	T	TGCC	MCC	c.75_76insGGC	NM_001085377.2	NP_001078846.2:p.(Ser25_Ser26insGly)	NC_000005.9:g.112824038_112824039insCGC	(Likely) benign	1 lab	ca7a11ebb9
9:140948358 CACNA1B A>G	9	140948358	140948358	A	G	CACNA1B	c.3868A>G	NM_000718.4	NP_000709.1:p.(Met1290Val)	NC_000009.11:g.140948358A>G	VUS	1 lab	ca7ed9df74
17:78021105 CCDC40 C>T	17	78021105	78021105	C	T	CCDC40	c.580C>T	NM_017950.4	NP_060420.2:p.(Gln194Ter)	NC_000017.10:g.78021105C>T	VUS	1 lab	ca80be05fe
9:35800030 NPR2 C>T	9	35800030	35800030	C	T	NPR2	c.999C>T	NM_003995.4	NP_003986.2:p.(Ile333=)	NC_000009.11:g.35800030C>T	(Likely) benign	1 lab	ca86e76f89
18:3879245 DLGAP1 T>G	18	3879245	3879245	T	G	DLGAP1	c.824A>C	NM_004746.4	NP_004737.2:p.(Lys275Thr)	NC_000018.9:g.3879245T>G	VUS	1 lab	ca88751fb9
19:18899970 COMP T>C	19	18899970	18899970	T	C	COMP	c.527A>G	NM_000095.3	NP_000086.2:p.(Gln176Arg)	NC_000019.9:g.18899970T>C	VUS	1 lab	ca8b4301f9
1:45796963 MUTYH T>A	1	45796963	45796963	T	A	MUTYH	c.1283A>T	NM_001048174.2	NP_001041639.1:p.(Tyr428Phe)	NC_000001.10:g.45796963T>A	VUS	1 lab	ca8e8b9599
2:215884110 ABCA12 A>G	2	215884110	215884110	A	G	ABCA12	c.1607T>C	NM_173076.3	NP_775099.2:p.(Ile536Thr)	NC_000002.11:g.215884110A>G	(Likely) benign	1 lab	ca8f4f4f7e
12:49724438 TROAP C>G	12	49724438	49724438	C	G	TROAP	c.1810C>G	NM_005480.4	NP_005471.3:p.(Arg604Gly)	NC_000012.11:g.49724438C>G	VUS	1 lab	ca8fcef8d2
11:13733550 FAR1 G>A	11	13733550	13733550	G	A	FAR1	c.844G>A	NM_032228.6	NP_115604.1:p.(Val282Ile)	NC_000011.9:g.13733550G>A	VUS	1 lab	ca904171e5
16:3777857 CREBBP C>A	16	3777857	3777857	C	A	CREBBP	c.7191G>T	NM_004380.3	NP_004371.2:p.(Gln2397His)	NC_000016.9:g.3777857C>A	VUS	1 lab	ca92f3f131
16:84213650 TAF1C T>TG	16	84213650	84213658	T	TG	TAF1C	c.1522dup	NM_001243156.2	NP_001230085.2:p.(Gln508ProfsTer19)	NC_000016.9:g.84213658dup	VUS	1 lab	ca93f6dc74
10:131760781 EBF3 T>G	10	131760781	131760781	T	G	EBF3	c.356-291A>C	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131760781T>G	(Likely) benign	1 lab	ca953c7e8f
2:167288943 SCN7A A>T	2	167288943	167288943	A	T	SCN7A	c.2477T>A	NM_002976.4	NP_002967.2:p.(Leu826His)	NC_000002.11:g.167288943A>T	(Likely) benign	1 lab	ca986526a7
16:2051064 ZNF598 C>T	16	2051064	2051064	C	T	ZNF598	c.1142G>A	NM_178167.5	NP_835461.2:p.(Arg381Gln)	NC_000016.9:g.2051064C>T	VUS	1 lab	ca99351ee1
7:156803036 MNX1 T>G	7	156803036	156803036	T	G	MNX1	c.9A>C	NM_005515.4	NP_005506.3:p.(Lys3Asn)	NC_000007.13:g.156803036T>G	VUS	1 lab	ca9950cffd
7:40134137 CDK13 G>A	7	40134137	40134137	G	A	CDK13	c.4097G>A	NM_003718.5	NP_003709.3:p.(Arg1366His)	NC_000007.13:g.40134137G>A	VUS	1 lab	ca995cb422
22:51135980 SHANK3 T>C	22	51135980	51135980	T	C	SHANK3	c.1567-5T>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135980T>C	(Likely) benign	1 lab	ca9b0e3247
10:115352017 NRAP T>C	10	115352017	115352017	T	C	NRAP	c.4580A>G	NM_198060.4	NP_932326.2:p.(Tyr1527Cys)	NC_000010.10:g.115352017T>C	VUS	1 lab	ca9c8a36d9
12:123342706 HIP1R C>T	12	123342706	123342706	C	T	HIP1R	c.1873C>T	NM_003959.3	NP_003950.1:p.(Arg625Trp)	NC_000012.11:g.123342706C>T	(Likely) benign	1 lab	ca9df626a2
3:130698264 ATP2C1 G>C	3	130698264	130698264	G	C	ATP2C1	c.1741+1G>C	NM_001199179.3	NP_001186108.1:p.?	NC_000003.11:g.130698264G>C	(Likely) pathogenic	1 lab	2afebf5d54
14:38281542 TTC6 G>T	14	38281542	38281542	G	T	TTC6	c.4593G>T	NM_001310135.5	NP_001297064.2:p.(Val1531=)	NC_000014.8:g.38281542G>T	(Likely) benign	1 lab	caa0b39b60
17:3928325 ZZEF1 G>A	17	3928325	3928325	G	A	ZZEF1	c.6980C>T	NM_015113.4	NP_055928.3:p.(Ala2327Val)	NC_000017.10:g.3928325G>A	(Likely) benign	1 lab	caa2d569ef
1:43812135 MPL T>C	1	43812135	43812135	T	C	MPL	c.1000T>C	NM_005373.3	NP_005364.1:p.(Cys334Arg)	NC_000001.10:g.43812135T>C	(Likely) pathogenic	1 lab	caa34891cc
2:145157368 ZEB2 C>A	2	145157368	145157368	C	A	ZEB2	c.1386G>T	NM_014795.4	NP_055610.1:p.(Lys462Asn)	NC_000002.11:g.145157368C>A	(Likely) benign	1 lab	caa351802a
1:8399548 SLC45A1 C>T	1	8399548	8399548	C	T	SLC45A1	c.1775-5C>T	NM_001080397.3	NP_001073866.3:p.?	NC_000001.10:g.8399548C>T	(Likely) benign	1 lab	caa63f9b76
6:143093720 HIVEP2 G>A	6	143093720	143093720	G	A	HIVEP2	c.2156C>T	NM_006734.4	NP_006725.3:p.(Thr719Ile)	NC_000006.11:g.143093720G>A	VUS	1 lab	caa9185081
15:33359934 FMN1 T>C	15	33359934	33359934	T	C	FMN1	c.2044-2659A>G	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33359934T>C	(Likely) benign	1 lab	caa9586ecc
12:49425056 KMT2D G>A	12	49425056	49425056	G	A	KMT2D	c.13432C>T	NM_003482.4	NP_003473.3:p.(Arg4478Trp)	NC_000012.11:g.49425056G>A	(Likely) benign	1 lab	caac4ae002
11:556338 LMNTD2 C>T	11	556338	556338	C	T	LMNTD2	c.1111G>A	NM_173573.3	NP_775844.2:p.(Glu371Lys)	NC_000011.9:g.556338C>T	(Likely) benign	1 lab	caacbb693e
19:19115332 SUGP2 C>T	19	19115332	19115332	C	T	SUGP2	c.2574G>A	NM_001017392.5	NP_001017392.2:p.(Thr858=)	NC_000019.9:g.19115332C>T	VUS	1 lab	caacd6ee1a
14:105413057 AHNAK2 G>T	14	105413057	105413057	G	T	AHNAK2	c.8731C>A	NM_138420.4	NP_612429.2:p.(Leu2911Ile)	NC_000014.8:g.105413057G>T	(Likely) benign	1 lab	caae20439f
18:56001121 NEDD4L ACCGGTAAC>A	18	56001121	56001131	ACCGGTAAC	A	NEDD4L	c.1065_1065+7del	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56001124_56001131del	VUS	1 lab	caaecd37df
11:113131008 NCAM1 T>G	11	113131008	113131008	T	G	NCAM1	c.2094T>G	NM_181351.5	NP_851996.2:p.(Phe698Leu)	NC_000011.9:g.113131008T>G	(Likely) benign	1 lab	cab1e9c64d
3:52422336 DNAH1 G>T	3	52422336	52422336	G	T	DNAH1	c.9157G>T	NM_015512.5	NP_056327.4:p.(Val3053Leu)	NC_000003.11:g.52422336G>T	VUS	1 lab	2b005ac646
1:44058143 PTPRF G>A	1	44058143	44058143	G	A	PTPRF	c.1684G>A	NM_002840.5	NP_002831.2:p.(Asp562Asn)	NC_000001.10:g.44058143G>A	VUS	1 lab	cab60333a2
2:179406991 TTN G>A	2	179406991	179406991	G	A	TTN	c.97492C>T	NM_001267550.2	NP_001254479.2:p.(Arg32498Cys)	NC_000002.11:g.179406991G>A	(Likely) benign	1 lab	2b054b8144
5:82832913 VCAN T>C	5	82832913	82832913	T	C	VCAN	c.4091T>C	NM_004385.5	NP_004376.2:p.(Val1364Ala)	NC_000005.9:g.82832913T>C	(Likely) benign	1 lab	cab67cebdc
10:71880853 AIFM2 T>C	10	71880853	71880853	T	C	AIFM2	c.409A>G	NM_032797.6	NP_116186.1:p.(Arg137Gly)	NC_000010.10:g.71880853T>C	VUS	1 lab	cab76c31d0
4:15565108 CC2D2A C>T	4	15565108	15565108	C	T	CC2D2A	c.3145C>T	NM_001378615.1	NP_001365544.1:p.(Arg1049Ter)	NC_000004.11:g.15565108C>T	(Likely) pathogenic	1 lab	cab77af992
X:133981452 PABIR3 A>C	X	133981452	133981452	A	C	PABIR3	c.385A>C	NM_001388447.1	NP_001375376.1:p.(Ile129Leu)	NC_000023.10:g.133981452A>C	VUS	1 lab	cab9196dc4
X:13786759 OFD1 C>T	X	13786759	13786759	C	T	OFD1	c.2929-78C>T	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13786759C>T	VUS	1 lab	cabb3ff762
17:61838274 CCDC47 C>T	17	61838274	61838274	C	T	CCDC47	c.735G>A	NM_020198.3	NP_064583.2:p.(Val245=)	NC_000017.10:g.61838274C>T	VUS	1 lab	cabb7c65c7
X:70517221 NONO T>G	X	70517221	70517221	T	G	NONO	c.944-6T>G	NM_007363.5	NP_031389.3:p.?	NC_000023.10:g.70517221T>G	VUS	1 lab	cabc8ff8f3
3:142241690 ATR C>A	3	142241690	142241690	C	A	ATR	c.4153-7G>T	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142241690C>A	(Likely) benign	1 lab	cabcbaf092
14:24002560 ZFHX2 C>T	14	24002560	24002560	C	T	ZFHX2	c.1975G>A	NM_033400.3	NP_207646.2:p.(Glu659Lys)	NC_000014.8:g.24002560C>T	(Likely) benign	1 lab	cabd07fc8e
X:152954290 SLC6A8 A>G	X	152954290	152954290	A	G	SLC6A8	c.261A>G	NM_005629.4	NP_005620.1:p.(Gly87=)	NC_000023.10:g.152954290A>G	(Likely) benign	1 lab	cabe6e81d2
2:211159118 MYL1 A>G	2	211159118	211159118	A	G	MYL1	c.329T>C	NM_079420.3	NP_524144.1:p.(Phe110Ser)	NC_000002.11:g.211159118A>G	VUS	1 lab	cac0c4a597
4:74007958 ANKRD17 C>T	4	74007958	74007958	C	T	ANKRD17	c.2229+1G>A	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.74007958C>T	VUS	1 lab	cac1955684
3:58108913 FLNB G>A	3	58108913	58108913	G	A	FLNB	c.3220G>A	NM_001457.4	NP_001448.2:p.(Gly1074Ser)	NC_000003.11:g.58108913G>A	VUS	1 lab	cac24f2ea9
2:225422503 CUL3 C>T	2	225422503	225422503	C	T	CUL3	c.137G>A	NM_003590.5	NP_003581.1:p.(Arg46His)	NC_000002.11:g.225422503C>T	(Likely) benign	1 lab	cac2dcd6a3
19:36591768 WDR62 GGACA>G	19	36591768	36591777	GGACA	G	WDR62	c.2864_2867del	NM_001083961.2	NP_001077430.1:p.(Asp955AlafsTer112)	NC_000019.9:g.36591774_36591777del	(Likely) pathogenic	1 lab	cac4e43c00
12:52910472 KRT5 A>G	12	52910472	52910472	A	G	KRT5	c.1388T>C	NM_000424.4	NP_000415.2:p.(Leu463Pro)	NC_000012.11:g.52910472A>G	(Likely) pathogenic	1 lab	2b062d80b3
11:89939373 CHORDC1 T>C	11	89939373	89939373	T	C	CHORDC1	c.560A>G	NM_012124.3	NP_036256.2:p.(Glu187Gly)	NC_000011.9:g.89939373T>C	VUS	1 lab	cac7a4e589
17:40491427 STAT3 G>C	17	40491427	40491427	G	C	STAT3	c.373C>G	NM_139276.3	NP_644805.1:p.(Gln125Glu)	NC_000017.10:g.40491427G>C	(Likely) benign	1 lab	cac87aef76
19:38959612 RYR1 C>T	19	38959612	38959612	C	T	RYR1	c.3388C>T	NM_000540.3	NP_000531.2:p.(Arg1130Cys)	NC_000019.9:g.38959612C>T	(Likely) benign	1 lab	cac8a5ffd7
14:21820890 SUPT16H C>T	14	21820890	21820890	C	T	SUPT16H	c.3086G>A	NM_007192.4	NP_009123.1:p.(Arg1029His)	NC_000014.8:g.21820890C>T	(Likely) benign	1 lab	cac91d9e7f
11:70331984 SHANK2 G>C	11	70331984	70331984	G	C	SHANK2	c.4414C>G	NM_012309.5	NP_036441.2:p.(Leu1472Val)	NC_000011.9:g.70331984G>C	(Likely) benign	1 lab	caca77d5b9
18:10705467 PIEZO2 C>T	18	10705467	10705467	C	T	PIEZO2	c.5866G>A	NM_001378183.1	NP_001365112.1:p.(Gly1956Ser)	NC_000018.9:g.10705467C>T	(Likely) benign	1 lab	cacb05485f
22:41574628 EP300 A>C	22	41574628	41574628	A	C	EP300	c.6913A>C	NM_001429.4	NP_001420.2:p.(Asn2305His)	NC_000022.10:g.41574628A>C	VUS	1 lab	cacb335ba6
10:46967544 SYT15 G>A	10	46967544	46967544	G	A	SYT15	c.533C>T	NM_031912.5	NP_114118.2:p.(Ser178Leu)	NC_000010.10:g.46967544G>A	VUS	1 lab	cacc23b3de
2:233127938 DIS3L2 C>G	2	233127938	233127938	C	G	DIS3L2	c.1447C>G	NM_152383.5	NP_689596.4:p.(Arg483Gly)	NC_000002.11:g.233127938C>G	VUS	1 lab	cacc430239
12:49431462 KMT2D G>A	12	49431462	49431462	G	A	KMT2D	c.9677C>T	NM_003482.4	NP_003473.3:p.(Pro3226Leu)	NC_000012.11:g.49431462G>A	(Likely) benign	1 lab	cace7348ab
2:216242995 FN1 T>C	2	216242995	216242995	T	C	FN1	c.5623-10A>G	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216242995T>C	(Likely) benign	1 lab	cacf9e2375
2:236653487 AGAP1 A>G	2	236653487	236653487	A	G	AGAP1	c.538+4A>G	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236653487A>G	VUS	1 lab	cacfd4c3e4
2:26006714 ASXL2 A>G	2	26006714	26006714	A	G	ASXL2	c.404-12305T>C	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.26006714A>G	(Likely) benign	1 lab	cacfe0abc8
X:107977702 IRS4 G>T	X	107977702	107977702	G	T	IRS4	c.1873C>A	NM_001379150.1	NP_001366079.1:p.(Gln625Lys)	NC_000023.10:g.107977702G>T	(Likely) benign	1 lab	cacfe8cea8
19:55106649 LILRA1 A>C	19	55106649	55106649	A	C	LILRA1	c.443A>C	NM_006863.4	NP_006854.1:p.(Gln148Pro)	NC_000019.9:g.55106649A>C	VUS	1 lab	cad1faab89
3:184072050 CLCN2 G>A	3	184072050	184072050	G	A	CLCN2	c.1560C>T	NM_004366.6	NP_004357.3:p.(Ile520=)	NC_000003.11:g.184072050G>A	(Likely) benign	1 lab	cad305bc00
X:131231298 FRMD7 T>G	X	131231298	131231298	T	G	FRMD7	c.280A>C	NM_194277.3	NP_919253.1:p.(Thr94Pro)	NC_000023.10:g.131231298T>G	VUS	1 lab	cad35a79aa
20:44519429 NEURL2 C>A	20	44519429	44519429	C	A	NEURL2	c.202G>T	NM_080749.4	NP_542787.1:p.(Val68Phe)	NC_000020.10:g.44519429C>A	VUS	1 lab	cad3643c38
5:96011253 CAST A>G	5	96011253	96011253	A	G	CAST	c.86A>G	NM_001750.7	NP_001741.4:p.(Glu29Gly)	NC_000005.9:g.96011253A>G	VUS	1 lab	cad3875a85
19:38796090 YIF1B G>T	19	38796090	38796090	G	T	YIF1B	c.847C>A	NM_001039672.3	NP_001034761.1:p.(Arg283Ser)	NC_000019.9:g.38796090G>T	VUS	1 lab	cad3979928
12:48381453 COL2A1 C>T	12	48381453	48381453	C	T	COL2A1	c.1162G>A	NM_001844.5	NP_001835.3:p.(Ala388Thr)	NC_000012.11:g.48381453C>T	VUS	1 lab	cad3d3794b
8:145737560 RECQL4 G>T	8	145737560	145737560	G	T	RECQL4	c.3203C>A	NM_004260.4	NP_004251.4:p.(Ala1068Asp)	NC_000008.10:g.145737560G>T	VUS	1 lab	cad449ceaf
12:102505904 NUP37 G>A	12	102505904	102505904	G	A	NUP37	c.263C>T	NM_024057.4	NP_076962.2:p.(Ser88Leu)	NC_000012.11:g.102505904G>A	VUS	1 lab	cad4cc0013
11:134093820 NCAPD3 T>C	11	134093820	134093820	T	C	NCAPD3	c.1A>G	NM_015261.3	NP_056076.1:p.(Met1?)	NC_000011.9:g.134093820T>C	VUS	1 lab	cad6da6535
7:156798378 MNX1 G>A	7	156798378	156798378	G	A	MNX1	c.406C>T	NM_001165255.1	NP_001158727.1:p.(Leu136=)	NC_000007.13:g.156798378G>A	(Likely) benign	1 lab	2d05331e53
1:240371210 FMN2 C>T	1	240371210	240371210	C	T	FMN2	c.3098C>T	NM_020066.5	NP_064450.3:p.(Pro1033Leu)	NC_000001.10:g.240371210C>T	VUS	1 lab	cad7f59242
6:85446938 TBX18 T>C	6	85446938	85446938	T	C	TBX18	c.1289A>G	NM_001080508.3	NP_001073977.1:p.(Tyr430Cys)	NC_000006.11:g.85446938T>C	VUS	1 lab	cad9acda8a
11:73020026 ARHGEF17 G>A	11	73020026	73020026	G	A	ARHGEF17	c.343G>A	NM_014786.4	NP_055601.2:p.(Ala115Thr)	NC_000011.9:g.73020026G>A	VUS	1 lab	cada054a20
7:16460883 CRPPA C>T	7	16460883	16460883	C	T	CRPPA	c.65G>A	NM_001101426.4	NP_001094896.1:p.(Arg22His)	NC_000007.13:g.16460883C>T	VUS	1 lab	cada8d42d3
16:30749688 SRCAP C>A	16	30749688	30749688	C	A	SRCAP	c.8327C>A	NM_006662.3	NP_006653.2:p.(Thr2776Asn)	NC_000016.9:g.30749688C>A	VUS	1 lab	cadb5d8525
1:1875813 CFAP74 T>C	1	1875813	1875813	T	C	CFAP74	c.2443A>G	NM_001304360.2	NP_001291289.1:p.(Met815Val)	NC_000001.10:g.1875813T>C	VUS	1 lab	cadba9e712
7:101844632 CUX1 C>T	7	101844632	101844632	C	T	CUX1	c.2063-8C>T	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101844632C>T	(Likely) benign	1 lab	cadc9655a0
X:12735183 FRMPD4 G>A	X	12735183	12735183	G	A	FRMPD4	c.2605G>A	NM_001368397.1	NP_001355326.1:p.(Val869Ile)	NC_000023.10:g.12735183G>A	(Likely) benign	1 lab	cadd96fa47
4:8594566 CPZ G>GC	4	8594566	8594571	G	GC	CPZ	c.11dup	NM_001014447.3	NP_001014447.2:p.(Leu5AlafsTer21)	NC_000004.11:g.8594571dup	VUS	1 lab	caddeccd51
3:178916936 PIK3CA G>A	3	178916936	178916936	G	A	PIK3CA	c.323G>A	NM_006218.4	NP_006209.2:p.(Arg108His)	NC_000003.11:g.178916936G>A	(Likely) pathogenic	1 lab	cade58bc19
14:105412143 AHNAK2 G>C	14	105412143	105412143	G	C	AHNAK2	c.9645C>G	NM_138420.4	NP_612429.2:p.(His3215Gln)	NC_000014.8:g.105412143G>C	VUS	1 lab	cadf384787
X:16804654 TXLNG G>GCGC	X	16804654	16804659	G	GCGC	TXLNG	c.47_49dup	NM_018360.3	NP_060830.2:p.(Ala16dup)	NC_000023.10:g.16804657_16804659dup	VUS	1 lab	cae051fa22
1:41540883 SCMH1 T>C	1	41540883	41540883	T	C	SCMH1	c.978+8A>G	NM_001394311.1	NP_001381240.1:p.?	NC_000001.10:g.41540883T>C	(Likely) benign	1 lab	cae0711802
19:38980699 RYR1 C>T	19	38980699	38980699	C	T	RYR1	c.5815-17C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38980699C>T	(Likely) benign	1 lab	cae188798b
1:39781336 MACF1 A>G	1	39781336	39781336	A	G	MACF1	c.3422A>G	NM_001394062.1	NP_001380991.1:p.(Tyr1141Cys)	NC_000001.10:g.39781336A>G	VUS	1 lab	cae2630525
X:134987551 SAGE1 C>T	X	134987551	134987551	C	T	SAGE1	c.454C>T	NM_001381902.1	NP_001368831.1:p.(His152Tyr)	NC_000023.10:g.134987551C>T	(Likely) benign	1 lab	cae2a13dd8
X:108719070 GUCY2F G>C	X	108719070	108719070	G	C	GUCY2F	c.96C>G	NM_001522.3	NP_001513.2:p.(Phe32Leu)	NC_000023.10:g.108719070G>C	(Likely) benign	1 lab	cae2d8fe4a
11:70026136 ANO1 A>G	11	70026136	70026136	A	G	ANO1	c.2377A>G	NM_018043.7	NP_060513.5:p.(Ile793Val)	NC_000011.9:g.70026136A>G	(Likely) benign	1 lab	cae34d18a8
8:144992968 PLEC C>T	8	144992968	144992968	C	T	PLEC	c.11021G>A	NM_201384.3	NP_958786.1:p.(Arg3674His)	NC_000008.10:g.144992968C>T	VUS	1 lab	cae35c04a6
2:73308223 RAB11FIP5 T>TTCC	2	73308223	73308256	T	TTCC	RAB11FIP5	c.2134_2136dup	NM_001371272.1	NP_001358201.1:p.(Gly712dup)	NC_000002.11:g.73308254_73308256dup	VUS	1 lab	cae4c561e7
16:2157890 PKD1 G>A	16	2157890	2157890	G	A	PKD1	c.7059C>T	NM_001009944.3	NP_001009944.3:p.(Asn2353=)	NC_000016.9:g.2157890G>A	(Likely) benign	1 lab	cae4f98fca
3:30713244 TGFBR2 G>A	3	30713244	30713244	G	A	TGFBR2	c.569G>A	NM_003242.6	NP_003233.4:p.(Arg190His)	NC_000003.11:g.30713244G>A	VUS	1 lab	2b0b526162
6:79655835 PHIP G>A	6	79655835	79655835	G	A	PHIP	c.4513C>T	NM_017934.7	NP_060404.4:p.(Arg1505Ter)	NC_000006.11:g.79655835G>A	(Likely) pathogenic	1 lab	2b0b59426b
12:56493517 ERBB3 T>G	12	56493517	56493517	T	G	ERBB3	c.2925T>G	NM_001982.4	NP_001973.2:p.(Tyr975Ter)	NC_000012.11:g.56493517T>G	VUS	1 lab	2b0b5df368
6:143090937 HIVEP2 C>T	6	143090937	143090937	C	T	HIVEP2	c.4939G>A	NM_006734.4	NP_006725.3:p.(Val1647Met)	NC_000006.11:g.143090937C>T	VUS	1 lab	cae6990bef
7:100279708 GIGYF1 CGCTGCT>C	7	100279708	100279715	CGCTGCT	C	GIGYF1	c.2906_2911del	NM_001375765.1	NP_001362694.1:p.(Gln969_Gln970del)	NC_000007.13:g.100279710_100279715del	VUS	1 lab	cae7f479b2
4:155507111 FGA G>C	4	155507111	155507111	G	C	FGA	c.1470C>G	NM_021871.4	NP_068657.1:p.(Asp490Glu)	NC_000004.11:g.155507111G>C	(Likely) benign	1 lab	cae949f55b
2:190532161 ASNSD1 G>A	2	190532161	190532161	G	A	ASNSD1	c.1303G>A	NM_019048.4	NP_061921.2:p.(Glu435Lys)	NC_000002.11:g.190532161G>A	(Likely) benign	1 lab	cae9dbc69c
5:180375375 BTNL8 GGTAA>G	5	180375375	180375382	GGTAA	G	BTNL8	c.808+4_808+7del	NM_001040462.3	NP_001035552.1:p.?	NC_000005.9:g.180375379_180375382del	(Likely) benign	1 lab	caed9cf8c4
19:41749559 AXL T>C	19	41749559	41749559	T	C	AXL	c.1484T>C	NM_021913.5	NP_068713.2:p.(Val495Ala)	NC_000019.9:g.41749559T>C	VUS	1 lab	caee926e74
1:155208000 GBA1 G>A	1	155208000	155208000	G	A	GBA1	c.686C>T	NM_000157.4	NP_000148.2:p.(Ala229Val)	NC_000001.10:g.155208000G>A	VUS	1 lab	caef290690
6:31752421 VARS1 C>T	6	31752421	31752421	C	T	VARS1	c.1418G>A	NM_006295.3	NP_006286.1:p.(Arg473His)	NC_000006.11:g.31752421C>T	VUS	1 lab	caf0407ed7
22:37466962 TMPRSS6 G>A	22	37466962	37466962	G	A	TMPRSS6	c.1666C>T	NM_001374504.1	NP_001361433.1:p.(His556Tyr)	NC_000022.10:g.37466962G>A	(Likely) benign	1 lab	caf369940d
5:140890702 PCDHGC3 G>A	5	140890702	140890702	G	A	PCDHGC3	c.2767G>A	NM_002588.4	NP_002579.2:p.(Gly923Ser)	NC_000005.9:g.140890702G>A	VUS	1 lab	caf471e1e4
2:179397323 TTN C>A	2	179397323	179397323	C	A	TTN	c.104019G>T	NM_001267550.2	NP_001254479.2:p.(Met34673Ile)	NC_000002.11:g.179397323C>A	(Likely) benign	1 lab	caf6556d13
1:152284597 FLG A>C	1	152284597	152284597	A	C	FLG	c.2765T>G	NM_002016.2	NP_002007.1:p.(Ile922Ser)	NC_000001.10:g.152284597A>C	(Likely) benign	1 lab	caf7ad8829
16:2149745 PKD1 G>A	16	2149745	2149745	G	A	PKD1	c.9950C>T	NM_001009944.3	NP_001009944.3:p.(Pro3317Leu)	NC_000016.9:g.2149745G>A	VUS	1 lab	cafa4b20a3
7:111540564 DOCK4 G>A	7	111540564	111540564	G	A	DOCK4	c.1346C>T	NM_001363540.2	NP_001350469.1:p.(Pro449Leu)	NC_000007.13:g.111540564G>A	VUS	1 lab	cafb9f3905
7:42187824 GLI3 C>T	7	42187824	42187824	C	T	GLI3	c.367+1G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42187824C>T	(Likely) pathogenic	1 lab	cafc227768
11:102996010 DYNC2H1 A>G	11	102996010	102996010	A	G	DYNC2H1	c.1843A>G	NM_001377.3	NP_001368.2:p.(Ile615Val)	NC_000011.9:g.102996010A>G	VUS	1 lab	cafdc60ef7
3:125007039 ZNF148 C>T	3	125007039	125007039	C	T	ZNF148	c.367G>A	NM_021964.3	NP_068799.2:p.(Val123Ile)	NC_000003.11:g.125007039C>T	(Likely) benign	1 lab	cb002a168d
7:2564849 LFNG A>G	7	2564849	2564849	A	G	LFNG	c.482-4A>G	NM_001040167.2	NP_001035257.1:p.?	NC_000007.13:g.2564849A>G	(Likely) benign	1 lab	cb0076c4f0
17:7751149 KDM6B G>C	17	7751149	7751149	G	C	KDM6B	c.1543G>C	NM_001348716.2	NP_001335645.1:p.(Ala515Pro)	NC_000017.10:g.7751149G>C	(Likely) benign	1 lab	cb00897a5d
11:103191748 DYNC2H1 A>T	11	103191748	103191748	A	T	DYNC2H1	c.11726-10A>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103191748A>T	(Likely) benign	1 lab	cb00f6c31f
8:144893145 SCRIB C>T	8	144893145	144893145	C	T	SCRIB	c.1204G>A	NM_182706.5	NP_874365.3:p.(Asp402Asn)	NC_000008.10:g.144893145C>T	(Likely) benign	1 lab	cb01b1f008
11:2906165 CDKN1C AGCCGGG>A	11	2906165	2906186	AGCCGGG	A	CDKN1C	c.516_521del	NM_001122630.2	NP_001116102.1:p.(Ala182_Pro183del)	NC_000011.9:g.2906181_2906186del	VUS	1 lab	cb06be1713
1:165738064 TMCO1 G>C	1	165738064	165738064	G	C	TMCO1	c.-76C>G	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165738064G>C	(Likely) benign	1 lab	cb077c565c
X:2795265 GYG2 G>A	X	2795265	2795265	G	A	GYG2	c.1168G>A	NM_001079855.2	NP_001073324.1:p.(Val390Ile)	NC_000023.10:g.2795265G>A	VUS	1 lab	cb0804dfea
7:288345 FAM20C C>T	7	288345	288345	C	T	FAM20C	c.1021C>T	NM_020223.4	NP_064608.2:p.(Arg341Trp)	NC_000007.13:g.288345C>T	VUS	1 lab	cb086189b1
15:99250824 IGF1R A>T	15	99250824	99250824	A	T	IGF1R	c.128A>T	NM_000875.5	NP_000866.1:p.(Tyr43Phe)	NC_000015.9:g.99250824A>T	(Likely) benign	1 lab	cb08dbc682
17:48153952 ITGA3 A>C	17	48153952	48153952	A	C	ITGA3	c.1829A>C	NM_002204.4	NP_002195.1:p.(Gln610Pro)	NC_000017.10:g.48153952A>C	(Likely) benign	1 lab	cb09734dc4
21:46233851 SUMO3 C>T	21	46233851	46233851	C	T	SUMO3	c.150+40G>A	NM_006936.3	NP_008867.2:p.?	NC_000021.8:g.46233851C>T	(Likely) benign	1 lab	cb0a9d1c41
11:76871306 MYO7A A>C	11	76871306	76871306	A	C	MYO7A	c.1178A>C	NM_000260.4	NP_000251.3:p.(Asp393Ala)	NC_000011.9:g.76871306A>C	VUS	1 lab	cb0c7b08fa
19:12812950 TNPO2 C>T	19	12812950	12812950	C	T	TNPO2	c.2347G>A	NM_001382241.1	NP_001369170.1:p.(Gly783Ser)	NC_000019.9:g.12812950C>T	VUS	1 lab	cb0c8de515
17:11584211 DNAH9 G>A	17	11584211	11584211	G	A	DNAH9	c.3743+5G>A	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11584211G>A	(Likely) benign	1 lab	cb0d762bbd
7:100364182 ZAN A>G	7	100364182	100364182	A	G	ZAN	c.4505A>G	NM_003386.3	NP_003377.2:p.(Glu1502Gly)	NC_000007.13:g.100364182A>G	(Likely) benign	1 lab	cb123423a9
16:1270782 CACNA1H G>A	16	1270782	1270782	G	A	CACNA1H	c.6850G>A	NM_021098.3	NP_066921.2:p.(Gly2284Ser)	NC_000016.9:g.1270782G>A	(Likely) benign	1 lab	cb12c24298
1:225609819 LBR G>A	1	225609819	225609819	G	A	LBR	c.326C>T	NM_002296.4	NP_002287.2:p.(Ala109Val)	NC_000001.10:g.225609819G>A	VUS	1 lab	cb12daaf05
1:155408854 ASH1L C>T	1	155408854	155408854	C	T	ASH1L	c.5092G>A	NM_018489.3	NP_060959.2:p.(Gly1698Arg)	NC_000001.10:g.155408854C>T	VUS	1 lab	cb1409960e
7:21805202 DNAH11 A>G	7	21805202	21805202	A	G	DNAH11	c.9097A>G	NM_001277115.2	NP_001264044.1:p.(Ile3033Val)	NC_000007.13:g.21805202A>G	(Likely) benign	1 lab	cb146f4184
16:48173070 ABCC12 T>G	16	48173070	48173070	T	G	ABCC12	c.831+4A>C	NM_001393797.1	NP_001380726.1:p.?	NC_000016.9:g.48173070T>G	VUS	1 lab	cb15ac01d3
7:1477172 MICALL2 G>A	7	1477172	1477172	G	A	MICALL2	c.2475C>T	NM_182924.4	NP_891554.1:p.(Pro825=)	NC_000007.13:g.1477172G>A	(Likely) benign	1 lab	cb166456a1
13:35697666 NBEA A>C	13	35697666	35697666	A	C	NBEA	c.2291A>C	NM_001385012.1	NP_001371941.1:p.(Gln764Pro)	NC_000013.10:g.35697666A>C	VUS	1 lab	cb1695f0e7
3:38950567 SCN11A T>C	3	38950567	38950567	T	C	SCN11A	c.1220A>G	NM_001349253.2	NP_001336182.1:p.(Asn407Ser)	NC_000003.11:g.38950567T>C	VUS	1 lab	cb170c9dac
12:110011231 MMAB GCAGGCCAAGACGGCTCCC>G	12	110011231	110011273	GCAGGCCAAGACGGCTCCC	G	MMAB	c.37_54del	NM_052845.4	NP_443077.1:p.(Gly13_Leu18del)	NC_000012.11:g.110011256_110011273del	VUS	1 lab	cb177c5005
16:56388929 GNAO1 CATT>C	16	56388929	56388932	CATT	C	GNAO1	c.1030_1032del	NM_020988.3	NP_066268.1:p.(Ile344del)	NC_000016.9:g.56388930_56388932del	VUS	1 lab	cb183838fb
1:24191978 FUCA1 C>A	1	24191978	24191978	C	A	FUCA1	c.524+3G>T	NM_000147.5	NP_000138.2:p.?	NC_000001.10:g.24191978C>A	(Likely) benign	1 lab	cb18a29824
3:101090925 SENP7 C>A	3	101090925	101090925	C	A	SENP7	c.723G>T	NM_020654.5	NP_065705.3:p.(Gln241His)	NC_000003.11:g.101090925C>A	(Likely) benign	1 lab	cb192837b2
2:136690414 DARS1 TAAAAAA>T	2	136690414	136690429	TAAAAAA	T	DARS1	c.505-8_505-3del	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136690424_136690429del	(Likely) benign	1 lab	cb1a2e0cf7
2:130911841 SMPD4 A>T	2	130911841	130911841	A	T	SMPD4	c.1659+9T>A	NM_017951.5	NP_060421.3:p.?	NC_000002.11:g.130911841A>T	(Likely) benign	1 lab	cb1a544ccb
X:92927378 NAP1L3 T>C	X	92927378	92927378	T	C	NAP1L3	c.926A>G	NM_004538.6	NP_004529.2:p.(Lys309Arg)	NC_000023.10:g.92927378T>C	(Likely) benign	1 lab	cb1a55090e
3:138091886 MRAS C>T	3	138091886	138091886	C	T	MRAS	c.161C>T	NM_001085049.3	NP_001078518.1:p.(Thr54Met)	NC_000003.11:g.138091886C>T	VUS	1 lab	cb1a94a4cb
2:24033375 ATAD2B G>A	2	24033375	24033375	G	A	ATAD2B	c.2268-3C>T	NM_017552.4	NP_060022.2:p.?	NC_000002.11:g.24033375G>A	VUS	1 lab	cb1dcf21aa
X:605163 SHOX C>CGCACCCGCACCT	X	605163	605188	C	CGCACCCGCACCT	SHOX	c.685_696dup	NM_000451.3	NP_000442.1:p.(His229_Leu232dup)	NC_000023.10:g.605177_605188dup	VUS	1 lab	cb1f9141b4
12:122252429 SETD1B G>A	12	122252429	122252429	G	A	SETD1B	c.2308G>A	NM_001353345.2	NP_001340274.1:p.(Gly770Ser)	NC_000012.11:g.122252429G>A	VUS	1 lab	cb20270176
16:89760571 CDK10 C>G	16	89760571	89760571	C	G	CDK10	c.609-10C>G	NM_052988.5	NP_443714.3:p.?	NC_000016.9:g.89760571C>G	(Likely) benign	1 lab	cb20e0cbc9
1:35474493 ZMYM6 C>G	1	35474493	35474493	C	G	ZMYM6	c.1525G>C	NM_007167.4	NP_009098.3:p.(Glu509Gln)	NC_000001.10:g.35474493C>G	(Likely) benign	1 lab	cb2203c1f2
2:108869805 SULT1C3 G>A	2	108869805	108869805	G	A	SULT1C3	c.306G>A	NM_001320878.2	NP_001307807.1:p.(Leu102=)	NC_000002.11:g.108869805G>A	VUS	1 lab	cb22880244
14:75514266 MLH3 T>C	14	75514266	75514266	T	C	MLH3	c.2093A>G	NM_001040108.2	NP_001035197.1:p.(Gln698Arg)	NC_000014.8:g.75514266T>C	VUS	1 lab	cb23502271
14:103438371 CDC42BPB TG>T	14	103438371	103438374	TG	T	CDC42BPB	c.1768del	NM_006035.4	NP_006026.3:p.(Gln590ArgfsTer77)	NC_000014.8:g.103438374del	(Likely) pathogenic	1 lab	cb23e4dbdc
15:96875441 NR2F2 C>A	15	96875441	96875441	C	A	NR2F2	c.107C>A	NM_021005.4	NP_066285.1:p.(Ala36Asp)	NC_000015.9:g.96875441C>A	(Likely) benign	1 lab	cb2503c84b
6:30886684 VARS2 C>T	6	30886684	30886684	C	T	VARS2	c.1066C>T	NM_020442.6	NP_065175.4:p.(Arg356Ter)	NC_000006.11:g.30886684C>T	VUS	1 lab	cb25c0bc3a
11:32417869 WT1 A>G	11	32417869	32417869	A	G	WT1	c.1198T>C	NM_024426.6	NP_077744.4:p.(Tyr400His)	NC_000011.9:g.32417869A>G	VUS	1 lab	2b12c3ffef
16:2157966 PKD1 TC>T	16	2157966	2157969	TC	T	PKD1	c.6982del	NM_001009944.3	NP_001009944.3:p.(Glu2328SerfsTer13)	NC_000016.9:g.2157969del	(Likely) pathogenic	1 lab	cb268fc851
15:38641689 SPRED1 T>G	15	38641689	38641689	T	G	SPRED1	c.649T>G	NM_152594.3	NP_689807.1:p.(Ser217Ala)	NC_000015.9:g.38641689T>G	(Likely) benign	1 lab	cb2933730e
10:26243804 MYO3A A>C	10	26243804	26243804	A	C	MYO3A	c.170A>C	NM_017433.5	NP_059129.3:p.(Asp57Ala)	NC_000010.10:g.26243804A>C	(Likely) benign	1 lab	cb29db5f48
2:233348907 ECEL1 C>G	2	233348907	233348907	C	G	ECEL1	c.1211G>C	NM_004826.4	NP_004817.2:p.(Arg404Pro)	NC_000002.11:g.233348907C>G	VUS	1 lab	cb2a4d12ab
2:48010551 MSH6 T>G	2	48010551	48010551	T	G	MSH6	c.179T>G	NM_000179.3	NP_000170.1:p.(Leu60Trp)	NC_000002.11:g.48010551T>G	VUS	1 lab	cb2a84ec95
10:101464280 ENTPD7 A>C	10	101464280	101464280	A	C	ENTPD7	c.1655A>C	NM_020354.5	NP_065087.1:p.(Tyr552Ser)	NC_000010.10:g.101464280A>C	VUS	1 lab	cb2a9aceca
2:170038019 LRP2 T>C	2	170038019	170038019	T	C	LRP2	c.10108A>G	NM_004525.3	NP_004516.2:p.(Ile3370Val)	NC_000002.11:g.170038019T>C	VUS	1 lab	cb2e794cc3
15:89422320 HAPLN3 G>A	15	89422320	89422320	G	A	HAPLN3	c.674C>T	NM_178232.4	NP_839946.1:p.(Pro225Leu)	NC_000015.9:g.89422320G>A	VUS	1 lab	cb2e806658
16:9857172 GRIN2A G>A	16	9857172	9857172	G	A	GRIN2A	c.4229C>T	NM_001134407.3	NP_001127879.1:p.(Ser1410Leu)	NC_000016.9:g.9857172G>A	VUS	1 lab	cb2ec35a03
16:57993968 CNGB1 C>T	16	57993968	57993968	C	T	CNGB1	c.585G>A	NM_001297.5	NP_001288.3:p.(Ala195=)	NC_000016.9:g.57993968C>T	(Likely) benign	1 lab	cb329866b9
12:7362442 PEX5 A>C	12	7362442	7362442	A	C	PEX5	c.1718+6A>C	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7362442A>C	VUS	1 lab	cb35bd478f
X:39932458 BCOR A>G	X	39932458	39932458	A	G	BCOR	c.2141T>C	NM_001123385.2	NP_001116857.1:p.(Val714Ala)	NC_000023.10:g.39932458A>G	VUS	1 lab	cb37033bb2
15:90210369 PLIN1 G>A	15	90210369	90210369	G	A	PLIN1	c.1007C>T	NM_002666.5	NP_002657.3:p.(Ala336Val)	NC_000015.9:g.90210369G>A	VUS	1 lab	cb377b3f6c
X:153995314 DKC1 A>T	X	153995314	153995314	A	T	DKC1	c.491A>T	NM_001288747.2	NP_001275676.1:p.(Glu164Val)	NC_000023.10:g.153995314A>T	VUS	1 lab	2b15ba3183
16:2090124 NTHL1 A>C	16	2090124	2090124	A	C	NTHL1	c.791+10T>G	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2090124A>C	(Likely) benign	1 lab	cb3a4b08f0
13:111114610 COL4A2 C>T	13	111114610	111114610	C	T	COL4A2	c.1670-15C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111114610C>T	(Likely) benign	1 lab	cb3ba52d39
X:8138596 VCX2 T>C	X	8138596	8138596	T	C	VCX2	c.89A>G	NM_016378.3	NP_057462.2:p.(Asp30Gly)	NC_000023.10:g.8138596T>C	(Likely) benign	1 lab	cb3c6dc463
12:124175203 TCTN2 A>G	12	124175203	124175203	A	G	TCTN2	c.1015A>G	NM_024809.5	NP_079085.2:p.(Lys339Glu)	NC_000012.11:g.124175203A>G	(Likely) benign	1 lab	cb3c761527
22:41513242 EP300 A>G	22	41513242	41513242	A	G	EP300	c.146A>G	NM_001429.4	NP_001420.2:p.(Asn49Ser)	NC_000022.10:g.41513242A>G	VUS	1 lab	cb71b365d6
7:34125419 BMPER C>T	7	34125419	34125419	C	T	BMPER	c.1460C>T	NM_001365308.1	NP_001352237.1:p.(Pro487Leu)	NC_000007.13:g.34125419C>T	VUS	1 lab	cb3c7a43e2
20:62871146 MYT1 G>A	20	62871146	62871146	G	A	MYT1	c.3127G>A	NM_004535.3	NP_004526.1:p.(Glu1043Lys)	NC_000020.10:g.62871146G>A	VUS	1 lab	cb3f3e470d
7:138400617 ATP6V0A4 C>T	7	138400617	138400617	C	T	ATP6V0A4	c.2149G>A	NM_020632.3	NP_065683.2:p.(Gly717Arg)	NC_000007.13:g.138400617C>T	VUS	1 lab	cb3f9d6536
4:56819279 CEP135 C>T	4	56819279	56819279	C	T	CEP135	c.142C>T	NM_025009.5	NP_079285.2:p.(Arg48Trp)	NC_000004.11:g.56819279C>T	VUS	1 lab	cb40c3488a
X:15381416 VEGFD C>G	X	15381416	15381416	C	G	VEGFD	c.116G>C	NM_004469.5	NP_004460.1:p.(Arg39Pro)	NC_000023.10:g.15381416C>G	VUS	1 lab	cb41c49e45
8:144874810 SCRIB C>T	8	144874810	144874810	C	T	SCRIB	c.4178-5G>A	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144874810C>T	VUS	1 lab	cb44401de6
17:30293149 SUZ12 CT>C	17	30293149	30293163	CT	C	SUZ12	c.456-3del	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30293163del	(Likely) benign	1 lab	cb44906e3f
X:131211932 FRMD7 A>G	X	131211932	131211932	A	G	FRMD7	c.2113T>C	NM_194277.3	NP_919253.1:p.(Ser705Pro)	NC_000023.10:g.131211932A>G	VUS	1 lab	cb44f0033d
6:132030345 CTAGE9 G>A	6	132030345	132030345	G	A	CTAGE9	c.1813C>T	NM_001145659.1	NP_001139131.1:p.(Arg605Cys)	NC_000006.11:g.132030345G>A	(Likely) benign	1 lab	cb45787e95
3:12458506 PPARG T>G	3	12458506	12458506	T	G	PPARG	c.1033T>G	NM_138711.6	NP_619725.3:p.(Phe345Val)	NC_000003.11:g.12458506T>G	VUS	1 lab	cb487582c1
8:144991126 PLEC G>A	8	144991126	144991126	G	A	PLEC	c.12863C>T	NM_201384.3	NP_958786.1:p.(Thr4288Met)	NC_000008.10:g.144991126G>A	VUS	1 lab	cb4918a9a3
12:100166786 ANKS1B A>C	12	100166786	100166786	A	C	ANKS1B	c.1042T>G	NM_152788.4	NP_690001.3:p.(Leu348Val)	NC_000012.11:g.100166786A>C	VUS	1 lab	2b18ac3f0f
6:131915230 MED23 A>G	6	131915230	131915230	A	G	MED23	c.3232+9T>C	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131915230A>G	VUS	1 lab	cb4dcc277d
3:42916105 CYP8B1 C>T	3	42916105	42916105	C	T	CYP8B1	c.1204G>A	NM_004391.3	NP_004382.2:p.(Val402Ile)	NC_000003.11:g.42916105C>T	(Likely) benign	1 lab	cb4debc66a
1:68512460 DIRAS3 T>G	1	68512460	68512460	T	G	DIRAS3	c.521A>C	NM_004675.4	NP_004666.1:p.(Asn174Thr)	NC_000001.10:g.68512460T>G	(Likely) benign	1 lab	cb4e7278c3
16:3860640 CREBBP A>G	16	3860640	3860640	A	G	CREBBP	c.939T>C	NM_004380.3	NP_004371.2:p.(Asp313=)	NC_000016.9:g.3860640A>G	(Likely) benign	1 lab	cb4ee49fa7
5:138386718 SIL1 C>T	5	138386718	138386718	C	T	SIL1	c.262G>A	NM_022464.5	NP_071909.1:p.(Gly88Arg)	NC_000005.9:g.138386718C>T	VUS	1 lab	cb5007e28c
15:48739017 FBN1 T>C	15	48739017	48739017	T	C	FBN1	c.5674A>G	NM_000138.5	NP_000129.3:p.(Ile1892Val)	NC_000015.9:g.48739017T>C	VUS	1 lab	cb519e2508
2:121746207 GLI2 C>T	2	121746207	121746207	C	T	GLI2	c.2666C>T	NM_001374353.1	NP_001361282.1:p.(Pro889Leu)	NC_000002.11:g.121746207C>T	(Likely) benign	1 lab	cb53c6391c
1:35250339 GJB3 G>C	1	35250339	35250339	G	C	GJB3	c.-25G>C	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35250339G>C	VUS	1 lab	cb54e16626
9:135545995 GTF3C4 G>A	9	135545995	135545995	G	A	GTF3C4	c.10G>A	NM_012204.4	NP_036336.2:p.(Ala4Thr)	NC_000009.11:g.135545995G>A	(Likely) benign	1 lab	cb55658f14
8:145582275 SLC52A2 G>T	8	145582275	145582275	G	T	SLC52A2	c.-561G>T	NM_001363118.2	NP_001350047.1:p.?	NC_000008.10:g.145582275G>T	VUS	1 lab	cb570e35e0
7:116544293 CAPZA2 C>G	7	116544293	116544293	C	G	CAPZA2	c.282C>G	NM_006136.3	NP_006127.1:p.(Ile94Met)	NC_000007.13:g.116544293C>G	(Likely) benign	1 lab	cb573870f3
15:51535078 CYP19A1 T>C	15	51535078	51535078	T	C	CYP19A1	c.32A>G	NM_000103.4	NP_000094.2:p.(Tyr11Cys)	NC_000015.9:g.51535078T>C	VUS	1 lab	cb59a77c7f
1:12017933 PLOD1 G>A	1	12017933	12017933	G	A	PLOD1	c.776G>A	NM_000302.4	NP_000293.2:p.(Arg259His)	NC_000001.10:g.12017933G>A	(Likely) benign	1 lab	cb5a10a51b
18:3452225 TGIF1 C>T	18	3452225	3452225	C	T	TGIF1	c.16+1722C>T	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3452225C>T	(Likely) benign	1 lab	cb5a9ed669
11:64697950 PPP2R5B C>T	11	64697950	64697950	C	T	PPP2R5B	c.783-3C>T	NM_006244.4	NP_006235.1:p.?	NC_000011.9:g.64697950C>T	(Likely) benign	1 lab	cb5b9c31d1
6:1612000 FOXC1 CTCG>C	6	1612000	1612008	CTCG	C	FOXC1	c.1326_1328del	NM_001453.3	NP_001444.2:p.(Ser443del)	NC_000006.11:g.1612006_1612008del	VUS	1 lab	cb5f4ff5e3
19:11101965 SMARCA4 T>C	19	11101965	11101965	T	C	SMARCA4	c.1385T>C	NM_003072.5	NP_003063.2:p.(Ile462Thr)	NC_000019.9:g.11101965T>C	(Likely) pathogenic	1 lab	cb604d8933
1:10364480 KIF1B C>A	1	10364480	10364480	C	A	KIF1B	c.2115+7176C>A	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10364480C>A	(Likely) benign	1 lab	cb6207f1a7
4:178272614 NEIL3 C>T	4	178272614	178272614	C	T	NEIL3	c.950C>T	NM_018248.3	NP_060718.3:p.(Ser317Leu)	NC_000004.11:g.178272614C>T	(Likely) benign	1 lab	cb63d5627e
8:145730788 GPT G>A	8	145730788	145730788	G	A	GPT	c.655G>A	NM_005309.3	NP_005300.1:p.(Ala219Thr)	NC_000008.10:g.145730788G>A	(Likely) benign	1 lab	cb652aa1cb
16:88778496 CTU2 C>T	16	88778496	88778496	C	T	CTU2	c.344-186C>T	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88778496C>T	VUS	1 lab	cb653044e9
6:142764561 ADGRG6 A>T	6	142764561	142764561	A	T	ADGRG6	c.3662A>T	NM_198569.3	NP_940971.2:p.(Asp1221Val)	NC_000006.11:g.142764561A>T	VUS	1 lab	cb657a5e7a
16:23563471 EARS2 T>C	16	23563471	23563471	T	C	EARS2	c.294A>G	NM_001083614.2	NP_001077083.1:p.(Ala98=)	NC_000016.9:g.23563471T>C	(Likely) benign	1 lab	cb658990b7
6:136597358 BCLAF1 T>C	6	136597358	136597358	T	C	BCLAF1	c.1305A>G	NM_014739.3	NP_055554.1:p.(Gly435=)	NC_000006.11:g.136597358T>C	VUS	1 lab	cb66402b8f
4:88959586 PKD2 G>C	4	88959586	88959586	G	C	PKD2	c.1027G>C	NM_000297.4	NP_000288.1:p.(Glu343Gln)	NC_000004.11:g.88959586G>C	VUS	1 lab	cb68635046
14:58909435 KIAA0586 T>C	14	58909435	58909435	T	C	KIAA0586	c.422T>C	NM_001329943.3	NP_001316872.1:p.(Met141Thr)	NC_000014.8:g.58909435T>C	(Likely) benign	1 lab	cb6991ddf2
15:33954431 RYR3 C>T	15	33954431	33954431	C	T	RYR3	c.4700C>T	NM_001036.6	NP_001027.3:p.(Ala1567Val)	NC_000015.9:g.33954431C>T	VUS	1 lab	cb6aeabe44
16:58608541 CNOT1 T>C	16	58608541	58608541	T	C	CNOT1	c.1951A>G	NM_016284.5	NP_057368.3:p.(Met651Val)	NC_000016.9:g.58608541T>C	VUS	1 lab	cb6af68de7
X:15301751 ASB11 C>T	X	15301751	15301751	C	T	ASB11	c.848G>A	NM_080873.3	NP_543149.1:p.(Gly283Asp)	NC_000023.10:g.15301751C>T	VUS	1 lab	cb6b1a5a87
10:72358914 PRF1 G>A	10	72358914	72358914	G	A	PRF1	c.563C>T	NM_001083116.3	NP_001076585.1:p.(Pro188Leu)	NC_000010.10:g.72358914G>A	VUS	1 lab	cb6c6b525e
7:19156685 TWIST1 G>GCGCCGC	7	19156685	19156701	G	GCGCCGC	TWIST1	c.254_259dup	NM_000474.4	NP_000465.1:p.(Gly85_Gly86dup)	NC_000007.13:g.19156696_19156701dup	VUS	1 lab	cb6d39d86b
19:47251930 FKRP C>G	19	47251930	47251930	C	G	FKRP	c.-40+8C>G	NM_024301.5	NP_077277.1:p.?	NC_000019.9:g.47251930C>G	(Likely) benign	1 lab	cb7f27fa44
7:114271579 FOXP2 C>CCAGCAG	7	114271579	114271605	C	CCAGCAG	FOXP2	c.615_620dup	NM_014491.4	NP_055306.1:p.(Gln208_Gln209dup)	NC_000007.13:g.114271600_114271605dup	(Likely) benign	1 lab	cb6daafb90
1:39913560 MACF1 G>A	1	39913560	39913560	G	A	MACF1	c.19958G>A	NM_001394062.1	NP_001380991.1:p.(Arg6653Gln)	NC_000001.10:g.39913560G>A	VUS	1 lab	cb70d43b03
10:89473063 PAPSS2 C>A	10	89473063	89473063	C	A	PAPSS2	c.377C>A	NM_001015880.2	NP_001015880.1:p.(Ala126Glu)	NC_000010.10:g.89473063C>A	(Likely) benign	1 lab	cb71134a62
9:37732367 FRMPD1 G>A	9	37732367	37732367	G	A	FRMPD1	c.925G>A	NM_014907.3	NP_055722.2:p.(Ala309Thr)	NC_000009.11:g.37732367G>A	VUS	1 lab	cb74971f7a
11:73669473 DNAJB13 G>A	11	73669473	73669473	G	A	DNAJB13	c.172+8G>A	NM_153614.4	NP_705842.2:p.?	NC_000011.9:g.73669473G>A	VUS	1 lab	cb77296119
12:123706306 MPHOSPH9 C>A	12	123706306	123706306	C	A	MPHOSPH9	c.485G>T	NM_022782.4	NP_073619.3:p.(Arg162Ile)	NC_000012.11:g.123706306C>A	(Likely) benign	1 lab	cb775b4203
16:1493547 CCDC154 G>A	16	1493547	1493547	G	A	CCDC154	c.374C>T	NM_001143980.3	NP_001137452.1:p.(Ala125Val)	NC_000016.9:g.1493547G>A	(Likely) benign	1 lab	cb78b49634
X:10474513 MID1 C>T	X	10474513	10474513	C	T	MID1	c.757-10782G>A	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10474513C>T	(Likely) benign	1 lab	cb7b6f68b9
17:4906118 KIF1C C>T	17	4906118	4906118	C	T	KIF1C	c.701C>T	NM_006612.6	NP_006603.2:p.(Thr234Met)	NC_000017.10:g.4906118C>T	VUS	1 lab	cb7c366172
16:1636187 IFT140 C>T	16	1636187	1636187	C	T	IFT140	c.1099G>A	NM_014714.4	NP_055529.2:p.(Asp367Asn)	NC_000016.9:g.1636187C>T	VUS	1 lab	cb7cb7fc64
11:111753246 CFAP68 G>A	11	111753246	111753246	G	A	CFAP68	c.200G>A	NM_022761.3	NP_073598.1:p.(Arg67His)	NC_000011.9:g.111753246G>A	(Likely) benign	1 lab	cb7dbb6d30
18:2667040 SMCHD1 C>T	18	2667040	2667040	C	T	SMCHD1	c.424+10C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2667040C>T	(Likely) benign	1 lab	cb7f1af069
14:57088320 TMEM260 A>T	14	57088320	57088320	A	T	TMEM260	c.1298A>T	NM_017799.4	NP_060269.3:p.(Asp433Val)	NC_000014.8:g.57088320A>T	(Likely) benign	1 lab	cb7fa16d9f
13:73334733 DIS3 CACTTTA>C	13	73334733	73334745	CACTTTA	C	DIS3	c.2721_2726del	NM_014953.5	NP_055768.3:p.(Val909_Lys910del)	NC_000013.10:g.73334740_73334745del	VUS	1 lab	cb806f6548
7:1527063 INTS1 G>C	7	1527063	1527063	G	C	INTS1	c.2539C>G	NM_001080453.3	NP_001073922.2:p.(Pro847Ala)	NC_000007.13:g.1527063G>C	(Likely) benign	1 lab	cb830cf4ef
12:51754506 GALNT6 C>T	12	51754506	51754506	C	T	GALNT6	c.1166G>A	NM_007210.4	NP_009141.2:p.(Arg389Gln)	NC_000012.11:g.51754506C>T	VUS	1 lab	cb831650cd
1:228476484 OBSCN G>A	1	228476484	228476484	G	A	OBSCN	c.11521G>A	NM_001386125.1	NP_001373054.1:p.(Gly3841Arg)	NC_000001.10:g.228476484G>A	(Likely) benign	1 lab	cb85341624
9:36846828 PAX5 G>A	9	36846828	36846828	G	A	PAX5	c.1099+12C>T	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36846828G>A	(Likely) benign	1 lab	2d12320e03
9:98229488 PTCH1 T>C	9	98229488	98229488	T	C	PTCH1	c.2470A>G	NM_000264.5	NP_000255.2:p.(Arg824Gly)	NC_000009.11:g.98229488T>C	(Likely) benign	1 lab	cb8606c05f
1:201044622 CACNA1S C>T	1	201044622	201044622	C	T	CACNA1S	c.1948+1G>A	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201044622C>T	VUS	1 lab	cb871f524b
14:74989504 LTBP2 G>A	14	74989504	74989504	G	A	LTBP2	c.2648C>T	NM_000428.3	NP_000419.1:p.(Ala883Val)	NC_000014.8:g.74989504G>A	(Likely) benign	1 lab	cb872e6577
8:38002832 STAR C>T	8	38002832	38002832	C	T	STAR	c.652G>A	NM_000349.3	NP_000340.2:p.(Ala218Thr)	NC_000008.10:g.38002832C>T	VUS	1 lab	cb89585260
5:55256381 IL6ST A>G	5	55256381	55256381	A	G	IL6ST	c.822T>C	NM_002184.4	NP_002175.2:p.(Pro274=)	NC_000005.9:g.55256381A>G	(Likely) benign	1 lab	2d141350fb
8:144895820 SCRIB C>T	8	144895820	144895820	C	T	SCRIB	c.433G>A	NM_182706.5	NP_874365.3:p.(Gly145Arg)	NC_000008.10:g.144895820C>T	(Likely) benign	1 lab	cb8b128bde
11:539579 LRRC56 G>T	11	539579	539579	G	T	LRRC56	c.-158-1G>T	NM_198075.4	NP_932341.1:p.?	NC_000011.9:g.539579G>T	(Likely) benign	1 lab	cc0e74d5fd
19:18899213 COMP A>C	19	18899213	18899213	A	C	COMP	c.867+6T>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899213A>C	(Likely) benign	1 lab	cb8c9de8ac
8:62550509 ASPH C>A	8	62550509	62550509	C	A	ASPH	c.886G>T	NM_004318.4	NP_004309.2:p.(Glu296Ter)	NC_000008.10:g.62550509C>A	(Likely) pathogenic	1 lab	cb8cd09e20
16:14976453 NOMO1 G>A	16	14976453	14976453	G	A	NOMO1	c.3030G>A	NM_014287.4	NP_055102.3:p.(Pro1010=)	NC_000016.9:g.14976453G>A	(Likely) benign	1 lab	cb8e7a935c
2:179669281 TTN C>T	2	179669281	179669281	C	T	TTN	c.89G>A	NM_001267550.2	NP_001254479.2:p.(Ser30Asn)	NC_000002.11:g.179669281C>T	VUS	1 lab	cb8f1551e1
17:41231221 BRCA1 A>C	17	41231221	41231221	A	C	BRCA1	c.4358-2590T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41231221A>C	(Likely) benign	1 lab	2d14462ee4
7:156802855 MNX1 C>A	7	156802855	156802855	C	A	MNX1	c.190G>T	NM_005515.4	NP_005506.3:p.(Glu64Ter)	NC_000007.13:g.156802855C>A	(Likely) pathogenic	1 lab	3323a2c2c9
9:117044779 COL27A1 C>T	9	117044779	117044779	C	T	COL27A1	c.3814C>T	NM_032888.4	NP_116277.2:p.(Pro1272Ser)	NC_000009.11:g.117044779C>T	VUS	1 lab	cb91267f36
7:141301083 AGK A>G	7	141301083	141301083	A	G	AGK	c.297+3A>G	NM_018238.4	NP_060708.1:p.?	NC_000007.13:g.141301083A>G	VUS	1 lab	cb91b3ba6a
22:17662773 ADA2 A>T	22	17662773	17662773	A	T	ADA2	c.1379T>A	NM_001282225.2	NP_001269154.1:p.(Met460Lys)	NC_000022.10:g.17662773A>T	VUS	1 lab	cb931c4f7c
2:220419340 OBSL1 G>A	2	220419340	220419340	G	A	OBSL1	c.4732C>T	NM_015311.3	NP_056126.1:p.(Gln1578Ter)	NC_000002.11:g.220419340G>A	(Likely) benign	1 lab	cb937bfa62
X:48123357 SSX1 G>C	X	48123357	48123357	G	C	SSX1	c.466+5G>C	NM_005635.4	NP_005626.1:p.?	NC_000023.10:g.48123357G>C	VUS	1 lab	cb948ea44d
5:176951396 FAM193B T>C	5	176951396	176951396	T	C	FAM193B	c.2086A>G	NM_001190946.3	NP_001177875.1:p.(Ser696Gly)	NC_000005.9:g.176951396T>C	(Likely) benign	1 lab	cb9591c223
2:241705184 KIF1A C>T	2	241705184	241705184	C	T	KIF1A	c.1711G>A	NM_001244008.2	NP_001230937.1:p.(Gly571Arg)	NC_000002.11:g.241705184C>T	VUS	1 lab	cb96d01195
18:55319970 ATP8B1 GA>G	18	55319970	55319974	GA	G	ATP8B1	c.3016-10del	NM_001374385.1	NP_001361314.1:p.?	NC_000018.9:g.55319974del	(Likely) benign	1 lab	cb96e9d0dd
11:65306693 LTBP3 T>C	11	65306693	65306693	T	C	LTBP3	c.3770A>G	NM_001130144.2	NP_001123616.1:p.(Glu1257Gly)	NC_000011.9:g.65306693T>C	VUS	1 lab	33240a5cf8
14:103416241 CDC42BPB C>T	14	103416241	103416241	C	T	CDC42BPB	c.3310G>A	NM_006035.4	NP_006026.3:p.(Val1104Ile)	NC_000014.8:g.103416241C>T	VUS	1 lab	cb98f194db
11:85966274 EED A>T	11	85966274	85966274	A	T	EED	c.371A>T	NM_003797.5	NP_003788.2:p.(Tyr124Phe)	NC_000011.9:g.85966274A>T	VUS	1 lab	cb998b70b0
3:160075339 IFT80 T>C	3	160075339	160075339	T	C	IFT80	c.577A>G	NM_020800.3	NP_065851.1:p.(Lys193Glu)	NC_000003.11:g.160075339T>C	VUS	1 lab	cb9bbcf8c1
X:19380975 MAP3K15 TAAAAA>T	X	19380975	19380992	TAAAAA	T	MAP3K15	c.3567-12_3567-8del	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19380988_19380992del	VUS	1 lab	cb9c344b6c
10:88476176 LDB3 G>C	10	88476176	88476176	G	C	LDB3	c.1324G>C	NM_007078.3	NP_009009.1:p.(Ala442Pro)	NC_000010.10:g.88476176G>C	(Likely) benign	1 lab	cb9cc5cf0b
5:126113354 LMNB1 A>G	5	126113354	126113354	A	G	LMNB1	c.154A>G	NM_005573.4	NP_005564.1:p.(Ser52Gly)	NC_000005.9:g.126113354A>G	VUS	1 lab	cb9cf006e0
X:54783434 ITIH6 G>T	X	54783434	54783434	G	T	ITIH6	c.3073C>A	NM_198510.3	NP_940912.1:p.(Pro1025Thr)	NC_000023.10:g.54783434G>T	(Likely) benign	1 lab	cb9f7168c5
19:39959742 SUPT5H ACT>A	19	39959742	39959748	ACT	A	SUPT5H	c.1172_1173del	NM_001111020.3	NP_001104490.1:p.(Ser391Ter)	NC_000019.9:g.39959747_39959748del	(Likely) pathogenic	1 lab	cba1acb9fb
5:86686616 RASA1 G>C	5	86686616	86686616	G	C	RASA1	c.3061-1G>C	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86686616G>C	VUS	1 lab	2b1b4b2383
3:78708836 ROBO1 C>A	3	78708836	78708836	C	A	ROBO1	c.2442G>T	NM_002941.4	NP_002932.1:p.(Lys814Asn)	NC_000003.11:g.78708836C>A	VUS	1 lab	cba40e33a0
15:64680161 TRIP4 T>G	15	64680161	64680161	T	G	TRIP4	c.99T>G	NM_016213.5	NP_057297.2:p.(Ile33Met)	NC_000015.9:g.64680161T>G	(Likely) benign	1 lab	cba41f7425
1:205130431 DSTYK G>A	1	205130431	205130431	G	A	DSTYK	c.1903C>T	NM_015375.3	NP_056190.1:p.(Arg635Cys)	NC_000001.10:g.205130431G>A	VUS	1 lab	cba44d93a6
19:52693362 PPP2R1A G>A	19	52693362	52693362	G	A	PPP2R1A	c.13G>A	NM_014225.6	NP_055040.2:p.(Asp5Asn)	NC_000019.9:g.52693362G>A	(Likely) benign	1 lab	cba5fe8e58
4:2831784 SH3BP2 G>A	4	2831784	2831784	G	A	SH3BP2	c.1151G>A	NM_001122681.2	NP_001116153.1:p.(Arg384Gln)	NC_000004.11:g.2831784G>A	(Likely) benign	1 lab	cba6ce52df
3:183887926 DVL3 C>T	3	183887926	183887926	C	T	DVL3	c.1631C>T	NM_004423.4	NP_004414.3:p.(Pro544Leu)	NC_000003.11:g.183887926C>T	VUS	1 lab	cba7e9268e
19:7687784 XAB2 C>T	19	7687784	7687784	C	T	XAB2	c.1240-5G>A	NM_020196.3	NP_064581.2:p.?	NC_000019.9:g.7687784C>T	VUS	1 lab	cba821ae9f
15:42703180 CAPN3 A>ATC	15	42703180	42703181	A	ATC	CAPN3	c.2362_2363insTC	NM_000070.3	NP_000061.1:p.(Arg788IlefsTer96)	NC_000015.9:g.42703180_42703181insTC	(Likely) pathogenic	1 lab	cba87281a3
14:94088456 UNC79 C>T	14	94088456	94088456	C	T	UNC79	c.5093C>T	NM_001395159.1	NP_001382088.1:p.(Thr1698Ile)	NC_000014.8:g.94088456C>T	(Likely) benign	1 lab	cbaa3a200a
3:27763304 EOMES G>A	3	27763304	27763304	G	A	EOMES	c.482C>T	NM_001278182.2	NP_001265111.1:p.(Ser161Leu)	NC_000003.11:g.27763304G>A	VUS	1 lab	cbab547f8e
X:48374169 PORCN C>T	X	48374169	48374169	C	T	PORCN	c.1011C>T	NM_203475.3	NP_982301.1:p.(Ser337=)	NC_000023.10:g.48374169C>T	(Likely) benign	1 lab	cbac232f37
1:53723053 LRP8 C>T	1	53723053	53723053	C	T	LRP8	c.2293G>A	NM_004631.5	NP_004622.2:p.(Val765Ile)	NC_000001.10:g.53723053C>T	VUS	1 lab	cbadf14f76
11:64453183 NRXN2 G>A	11	64453183	64453183	G	A	NRXN2	c.1087C>T	NM_015080.4	NP_055895.1:p.(Pro363Ser)	NC_000011.9:g.64453183G>A	VUS	1 lab	cbadff7fb0
9:71867780 TJP2 C>T	9	71867780	71867780	C	T	TJP2	c.3371C>T	NM_004817.4	NP_004808.2:p.(Thr1124Met)	NC_000009.11:g.71867780C>T	VUS	1 lab	cbaef0867c
6:70873274 COL19A1 G>A	6	70873274	70873274	G	A	COL19A1	c.2386G>A	NM_001858.6	NP_001849.2:p.(Ala796Thr)	NC_000006.11:g.70873274G>A	(Likely) benign	1 lab	cbaf87ebb0
16:1400205 TSR3 C>T	16	1400205	1400205	C	T	TSR3	c.557G>A	NM_001001410.3	NP_001001410.1:p.(Arg186Gln)	NC_000016.9:g.1400205C>T	(Likely) benign	1 lab	cbb2d3fbaf
17:47014635 SNF8 G>A	17	47014635	47014635	G	A	SNF8	c.245-149C>T	NM_007241.4	NP_009172.2:p.?	NC_000017.10:g.47014635G>A	(Likely) benign	1 lab	cbb37cea65
16:16272735 ABCC6 G>T	16	16272735	16272735	G	T	ABCC6	c.2335C>A	NM_001171.6	NP_001162.5:p.(Pro779Thr)	NC_000016.9:g.16272735G>T	VUS	1 lab	cbb386d49c
X:54275386 WNK3 G>A	X	54275386	54275386	G	A	WNK3	c.3395C>T	NM_020922.5	NP_065973.2:p.(Pro1132Leu)	NC_000023.10:g.54275386G>A	VUS	1 lab	cbb3f47120
9:27197306 TEK C>T	9	27197306	27197306	C	T	TEK	c.1625-7C>T	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27197306C>T	VUS	1 lab	cbb57a326e
5:156731381 CYFIP2 C>A	5	156731381	156731381	C	A	CYFIP2	c.795+7C>A	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156731381C>A	(Likely) benign	1 lab	cbb664231c
4:39269719 WDR19 C>T	4	39269719	39269719	C	T	WDR19	c.3358+8C>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39269719C>T	(Likely) benign	1 lab	cbb7ce7f27
1:113653034 LRIG2 C>T	1	113653034	113653034	C	T	LRIG2	c.1648C>T	NM_014813.3	NP_055628.1:p.(Arg550Cys)	NC_000001.10:g.113653034C>T	VUS	1 lab	cbb8980f61
4:80327982 GK2 C>T	4	80327982	80327982	C	T	GK2	c.1373G>A	NM_033214.3	NP_149991.2:p.(Gly458Glu)	NC_000004.11:g.80327982C>T	(Likely) benign	1 lab	cbbc3c0098
17:40695913 NAGLU T>G	17	40695913	40695913	T	G	NAGLU	c.1889T>G	NM_000263.4	NP_000254.2:p.(Val630Gly)	NC_000017.10:g.40695913T>G	VUS	1 lab	cbbcf51885
20:61450584 COL9A3 G>A	20	61450584	61450584	G	A	COL9A3	c.194G>A	NM_001853.4	NP_001844.3:p.(Gly65Glu)	NC_000020.10:g.61450584G>A	VUS	1 lab	cbbd1bed1f
15:75499792 C15orf39 C>A	15	75499792	75499792	C	A	C15orf39	c.1403C>A	NM_015492.5	NP_056307.3:p.(Pro468Gln)	NC_000015.9:g.75499792C>A	VUS	1 lab	cbbda3a587
1:228504678 OBSCN C>T	1	228504678	228504678	C	T	OBSCN	c.16425C>T	NM_001271223.2	NP_001258152.2:p.(Thr5475=)	NC_000001.10:g.228504678C>T	(Likely) benign	1 lab	2d1648d768
3:48508336 TREX1 G>A	3	48508336	48508336	G	A	TREX1	c.282G>A	NM_033629.6	NP_338599.1:p.(Ala94=)	NC_000003.11:g.48508336G>A	(Likely) benign	1 lab	cbbe94bb41
12:113357252 OAS1 G>T	12	113357252	113357252	G	T	OAS1	c.1097G>T	NM_016816.4	NP_058132.2:p.(Gly366Val)	NC_000012.11:g.113357252G>T	(Likely) benign	1 lab	2d16823db1
2:228012278 COL4A4 G>A	2	228012278	228012278	G	A	COL4A4	c.-79C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228012278G>A	(Likely) benign	1 lab	2d16f73dde
17:65343510 PSMD12 C>T	17	65343510	65343510	C	T	PSMD12	c.602G>A	NM_002816.5	NP_002807.1:p.(Arg201Gln)	NC_000017.10:g.65343510C>T	(Likely) benign	1 lab	cbc0cf1aeb
22:50962329 SCO2 C>T	22	50962329	50962329	C	T	SCO2	c.512G>A	NM_005138.3	NP_005129.2:p.(Arg171Gln)	NC_000022.10:g.50962329C>T	VUS	1 lab	cbc2aac96e
2:197654593 GTF3C3 T>A	2	197654593	197654593	T	A	GTF3C3	c.727+10A>T	NM_012086.5	NP_036218.1:p.?	NC_000002.11:g.197654593T>A	(Likely) benign	1 lab	cbc725ccad
9:140416113 PNPLA7 C>A	9	140416113	140416113	C	A	PNPLA7	c.932G>T	NM_001098537.3	NP_001092007.2:p.(Gly311Val)	NC_000009.11:g.140416113C>A	VUS	1 lab	cbc762757e
2:238251957 COL6A3 G>T	2	238251957	238251957	G	T	COL6A3	c.7668+1036C>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238251957G>T	(Likely) benign	1 lab	cbc85a027b
1:12090179 MIIP C>T	1	12090179	12090179	C	T	MIIP	c.940C>T	NM_021933.4	NP_068752.2:p.(Arg314Trp)	NC_000001.10:g.12090179C>T	(Likely) benign	1 lab	cbc8b59a7c
20:17949102 SNX5 T>A	20	17949102	17949102	T	A	SNX5	c.-34A>T	NM_014426.4	NP_055241.1:p.?	NC_000020.10:g.17949102T>A	VUS	1 lab	cbc94d9eb0
3:47164267 SETD2 C>A	3	47164267	47164267	C	A	SETD2	c.1859G>T	NM_014159.7	NP_054878.5:p.(Arg620Leu)	NC_000003.11:g.47164267C>A	VUS	1 lab	cbc9c663f3
7:91779946 LRRD1 A>G	7	91779946	91779946	A	G	LRRD1	c.2180T>C	NM_001161528.2	NP_001155000.1:p.(Phe727Ser)	NC_000007.13:g.91779946A>G	VUS	1 lab	cbcb9e4cad
5:93859799 KIAA0825 T>C	5	93859799	93859799	T	C	KIAA0825	c.136A>G	NM_001145678.3	NP_001139150.1:p.(Lys46Glu)	NC_000005.9:g.93859799T>C	(Likely) benign	1 lab	cbcc0c2763
10:73545422 CDH23 G>A	10	73545422	73545422	G	A	CDH23	c.5747G>A	NM_022124.6	NP_071407.4:p.(Arg1916His)	NC_000010.10:g.73545422G>A	VUS	1 lab	cbccce1b09
17:40371448 STAT5B G>C	17	40371448	40371448	G	C	STAT5B	c.715C>G	NM_012448.4	NP_036580.2:p.(Leu239Val)	NC_000017.10:g.40371448G>C	(Likely) benign	1 lab	cbcdd9f148
8:61654025 CHD7 G>T	8	61654025	61654025	G	T	CHD7	c.34G>T	NM_017780.4	NP_060250.2:p.(Glu12Ter)	NC_000008.10:g.61654025G>T	(Likely) pathogenic	1 lab	2b20ffa515
11:73360113 PLEKHB1 C>T	11	73360113	73360113	C	T	PLEKHB1	c.75C>T	NM_021200.3	NP_067023.1:p.(Gly25=)	NC_000011.9:g.73360113C>T	VUS	1 lab	cbd1296f4d
4:6303704 WFS1 G>A	4	6303704	6303704	G	A	WFS1	c.2182G>A	NM_006005.3	NP_005996.2:p.(Gly728Ser)	NC_000004.11:g.6303704G>A	VUS	1 lab	cbd13714fb
X:8433535 VCX3B A>G	X	8433535	8433535	A	G	VCX3B	c.44A>G	NM_001001888.4	NP_001001888.3:p.(Lys15Arg)	NC_000023.10:g.8433535A>G	VUS	1 lab	cbd180d091
X:151092669 MAGEA4 C>T	X	151092669	151092669	C	T	MAGEA4	c.533C>T	NM_001011548.1	NP_001011548.1:p.(Thr178Ile)	NC_000023.10:g.151092669C>T	(Likely) benign	1 lab	cbd31efb16
19:42857071 MEGF8 G>A	19	42857071	42857071	G	A	MEGF8	c.3351-9G>A	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42857071G>A	(Likely) benign	1 lab	cbd4a1815a
1:26140634 SELENON G>A	1	26140634	26140634	G	A	SELENON	c.1465G>A	NM_206926.2	NP_996809.1:p.(Val489Met)	NC_000001.10:g.26140634G>A	VUS	1 lab	cbd4dce34d
19:41937095 MISSING G>A	19	41937095	41937095	G	A	MISSING				NC_000019.9:g.41937095G>A	(Likely) benign	1 lab	2b25f6d9fa
14:105417667 AHNAK2 G>A	14	105417667	105417667	G	A	AHNAK2	c.4121C>T	NM_138420.4	NP_612429.2:p.(Thr1374Ile)	NC_000014.8:g.105417667G>A	(Likely) benign	1 lab	cbd7e7be75
8:23560320 NKX2-6 G>C	8	23560320	23560320	G	C	NKX2-6	c.550C>G	NM_001136271.3	NP_001129743.2:p.(Arg184Gly)	NC_000008.10:g.23560320G>C	(Likely) pathogenic	1 lab	cbd98530a6
2:220078595 ABCB6 C>T	2	220078595	220078595	C	T	ABCB6	c.1531G>A	NM_005689.4	NP_005680.1:p.(Ala511Thr)	NC_000002.11:g.220078595C>T	(Likely) benign	1 lab	cbda522dc2
2:219557017 STK36 G>A	2	219557017	219557017	G	A	STK36	c.1915+1G>A	NM_015690.5	NP_056505.2:p.?	NC_000002.11:g.219557017G>A	VUS	1 lab	cbdab0312c
3:50332501 HYAL3 C>T	3	50332501	50332501	C	T	HYAL3	c.533G>A	NM_003549.4	NP_003540.2:p.(Arg178His)	NC_000003.11:g.50332501C>T	(Likely) benign	1 lab	cbdba44df2
2:240036805 HDAC4 G>A	2	240036805	240036805	G	A	HDAC4	c.1735C>T	NM_001378414.1	NP_001365343.1:p.(Arg579Trp)	NC_000002.11:g.240036805G>A	(Likely) benign	1 lab	cbdc10da0c
X:54469894 TSR2 T>C	X	54469894	54469894	T	C	TSR2	c.234T>C	NM_058163.3	NP_477511.1:p.(Asp78=)	NC_000023.10:g.54469894T>C	(Likely) benign	1 lab	cbdc9ef883
2:215813759 ABCA12 C>T	2	215813759	215813759	C	T	ABCA12	c.6962+5G>A	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215813759C>T	VUS	1 lab	cbdcb15f55
17:42989094 GFAP G>A	17	42989094	42989094	G	A	GFAP	c.852C>T	NM_002055.5	NP_002046.1:p.(Asp284=)	NC_000017.10:g.42989094G>A	(Likely) benign	1 lab	cbdf97ecff
9:140130701 SLC34A3 C>T	9	140130701	140130701	C	T	SLC34A3	c.1633C>T	NM_001177316.2	NP_001170787.2:p.(Arg545Cys)	NC_000009.11:g.140130701C>T	(Likely) benign	1 lab	cbe0a4f389
12:56822358 TIMELESS C>T	12	56822358	56822358	C	T	TIMELESS	c.1383G>A	NM_003920.5	NP_003911.2:p.(Val461=)	NC_000012.11:g.56822358C>T	VUS	1 lab	cbe2d11513
1:175063222 TNN T>C	1	175063222	175063222	T	C	TNN	c.1421T>C	NM_022093.2	NP_071376.1:p.(Val474Ala)	NC_000001.10:g.175063222T>C	VUS	1 lab	cbe5d8f667
1:39784163 MACF1 A>G	1	39784163	39784163	A	G	MACF1	c.3821A>G	NM_001394062.1	NP_001380991.1:p.(Asp1274Gly)	NC_000001.10:g.39784163A>G	VUS	1 lab	cbe5f678e4
X:15315770 ASB11 C>G	X	15315770	15315770	C	G	ASB11	c.295G>C	NM_080873.3	NP_543149.1:p.(Val99Leu)	NC_000023.10:g.15315770C>G	VUS	1 lab	cbe6837f25
X:13781899 OFD1 G>A	X	13781899	13781899	G	A	OFD1	c.2524G>A	NM_003611.3	NP_003602.1:p.(Gly842Arg)	NC_000023.10:g.13781899G>A	(Likely) benign	1 lab	cbe7dcfbe2
1:40776386 COL9A2 C>T	1	40776386	40776386	C	T	COL9A2	c.684G>A	NM_001852.4	NP_001843.1:p.(Pro228=)	NC_000001.10:g.40776386C>T	(Likely) benign	1 lab	cbe93359d6
4:1803398 FGFR3 C>G	4	1803398	1803398	C	G	FGFR3	c.667C>G	NM_000142.5	NP_000133.1:p.(Arg223Gly)	NC_000004.11:g.1803398C>G	VUS	1 lab	cbe9ba9004
11:126305183 KIRREL3 G>A	11	126305183	126305183	G	A	KIRREL3	c.1568C>T	NM_032531.4	NP_115920.1:p.(Ser523Leu)	NC_000011.9:g.126305183G>A	VUS	1 lab	cbecbc94e9
2:212288967 ERBB4 G>A	2	212288967	212288967	G	A	ERBB4	c.2779C>T	NM_005235.3	NP_005226.1:p.(Arg927Ter)	NC_000002.11:g.212288967G>A	VUS	1 lab	cbee5d97e4
11:67414433 ACY3 C>T	11	67414433	67414433	C	T	ACY3	c.82G>A	NM_080658.2	NP_542389.1:p.(Val28Ile)	NC_000011.9:g.67414433C>T	(Likely) benign	1 lab	cbeec2dd87
16:14702967 PARN C>A	16	14702967	14702967	C	A	PARN	c.568G>T	NM_002582.4	NP_002573.1:p.(Asp190Tyr)	NC_000016.9:g.14702967C>A	(Likely) benign	1 lab	cbef319559
17:48639188 CACNA1G G>A	17	48639188	48639188	G	A	CACNA1G	c.242+126G>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48639188G>A	(Likely) benign	1 lab	cbf0864b97
6:44197456 SLC29A1 A>G	6	44197456	44197456	A	G	SLC29A1	c.242A>G	NM_001372327.1	NP_001359256.1:p.(Asn81Ser)	NC_000006.11:g.44197456A>G	(Likely) benign	1 lab	cbf1f766b3
5:149357910 SLC26A2 A>T	5	149357910	149357910	A	T	SLC26A2	c.695A>T	NM_000112.4	NP_000103.2:p.(Tyr232Phe)	NC_000005.9:g.149357910A>T	VUS	1 lab	cbf23d0fa5
1:11884105 CLCN6 A>G	1	11884105	11884105	A	G	CLCN6	c.580+215A>G	NM_001286.5	NP_001277.2:p.?	NC_000001.10:g.11884105A>G	(Likely) benign	1 lab	cbf28fdf15
2:65541189 SPRED2 G>A	2	65541189	65541189	G	A	SPRED2	c.703C>T	NM_181784.3	NP_861449.2:p.(Pro235Ser)	NC_000002.11:g.65541189G>A	VUS	1 lab	cbf2fde39a
9:101984163 ALG2 T>G	9	101984163	101984163	T	G	ALG2	c.14A>C	NM_033087.4	NP_149078.1:p.(Gln5Pro)	NC_000009.11:g.101984163T>G	VUS	1 lab	cbf32abefb
19:13397502 CACNA1A C>T	19	13397502	13397502	C	T	CACNA1A	c.3380G>A	NM_023035.3	NP_075461.2:p.(Arg1127Gln)	NC_000019.9:g.13397502C>T	VUS	1 lab	2d1c183cce
7:101845466 CUX1 G>A	7	101845466	101845466	G	A	CUX1	c.2889G>A	NM_181552.4	NP_853530.2:p.(Gln963=)	NC_000007.13:g.101845466G>A	VUS	1 lab	cbf3b3140e
3:129292445 PLXND1 C>T	3	129292445	129292445	C	T	PLXND1	c.2829G>A	NM_015103.3	NP_055918.3:p.(Val943=)	NC_000003.11:g.129292445C>T	(Likely) benign	1 lab	cbf6085635
10:92675931 ANKRD1 A>T	10	92675931	92675931	A	T	ANKRD1	c.648T>A	NM_014391.3	NP_055206.2:p.(Asp216Glu)	NC_000010.10:g.92675931A>T	VUS	1 lab	cbf67bfb9c
3:129195278 IFT122 C>T	3	129195278	129195278	C	T	IFT122	c.937C>T	NM_052989.3	NP_443715.1:p.(Arg313Trp)	NC_000003.11:g.129195278C>T	VUS	1 lab	cbf8013df9
1:39696876 MACF1 G>C	1	39696876	39696876	G	C	MACF1	c.132G>C	NM_001394062.1	NP_001380991.1:p.(Lys44Asn)	NC_000001.10:g.39696876G>C	VUS	1 lab	cbf8c28432
16:72822351 ZFHX3 G>A	16	72822351	72822351	G	A	ZFHX3	c.9824C>T	NM_006885.4	NP_008816.3:p.(Pro3275Leu)	NC_000016.9:g.72822351G>A	VUS	1 lab	cbf9eeb2f2
2:74369390 BOLA3 T>G	2	74369390	74369390	T	G	BOLA3	c.258+9A>C	NM_212552.3	NP_997717.2:p.?	NC_000002.11:g.74369390T>G	(Likely) benign	1 lab	cbfaaa0d13
6:24528267 ALDH5A1 G>A	6	24528267	24528267	G	A	ALDH5A1	c.1255G>A	NM_170740.1	NP_733936.1:p.(Val419Ile)	NC_000006.11:g.24528267G>A	(Likely) benign	1 lab	2b2bec8f06
11:17583338 OTOG A>G	11	17583338	17583338	A	G	OTOG	c.1628A>G	NM_001292063.2	NP_001278992.1:p.(Asn543Ser)	NC_000011.9:g.17583338A>G	(Likely) benign	1 lab	cbfb9240b1
5:11364898 CTNND2 C>T	5	11364898	11364898	C	T	CTNND2	c.1282G>A	NM_001332.4	NP_001323.1:p.(Val428Ile)	NC_000005.9:g.11364898C>T	(Likely) benign	1 lab	cbfc069e49
X:24382440 SUPT20HL1 TCTA>T	X	24382440	24382443	TCTA	T	SUPT20HL1	c.1564_1566del	NM_001136234.3	NP_001129706.3:p.(Leu522del)	NC_000023.10:g.24382441_24382443del	(Likely) benign	1 lab	cbfcc61179
13:111082914 COL4A2 A>T	13	111082914	111082914	A	T	COL4A2	c.608A>T	NM_001846.4	NP_001837.2:p.(His203Leu)	NC_000013.10:g.111082914A>T	(Likely) benign	1 lab	cbfdee2a38
5:149743741 TCOF1 G>A	5	149743741	149743741	G	A	TCOF1	c.230G>A	NM_001371623.1	NP_001358552.1:p.(Arg77His)	NC_000005.9:g.149743741G>A	(Likely) benign	1 lab	cbff495619
17:80039223 FASN G>A	17	80039223	80039223	G	A	FASN	c.6412C>T	NM_004104.5	NP_004095.4:p.(Arg2138Cys)	NC_000017.10:g.80039223G>A	VUS	1 lab	cc00b8f4c3
5:41862789 OXCT1 C>T	5	41862789	41862789	C	T	OXCT1	c.142G>A	NM_000436.4	NP_000427.1:p.(Glu48Lys)	NC_000005.9:g.41862789C>T	VUS	1 lab	cc019e78c5
17:42991422 GFAP C>T	17	42991422	42991422	C	T	GFAP	c.496G>A	NM_002055.5	NP_002046.1:p.(Glu166Lys)	NC_000017.10:g.42991422C>T	VUS	1 lab	cc03a93c42
14:23790913 PABPN1 G>GT	14	23790913	23790914	G	GT	PABPN1	c.235_236insT	NM_004643.4	NP_004634.1:p.(Ala79ValfsTer30)	NC_000014.8:g.23790913_23790914insT	VUS	1 lab	cc03e2cced
1:29391396 EPB41 A>G	1	29391396	29391396	A	G	EPB41	c.1339-98A>G	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29391396A>G	(Likely) benign	1 lab	2d2098af7b
16:48122456 ABCC12 C>T	16	48122456	48122456	C	T	ABCC12	c.3475G>A	NM_001393797.1	NP_001380726.1:p.(Gly1159Arg)	NC_000016.9:g.48122456C>T	(Likely) benign	1 lab	cc04a3cd68
6:117248480 RFX6 C>G	6	117248480	117248480	C	G	RFX6	c.2176C>G	NM_173560.4	NP_775831.2:p.(Arg726Gly)	NC_000006.11:g.117248480C>G	(Likely) benign	1 lab	cc05757b49
9:139273668 SNAPC4 C>G	9	139273668	139273668	C	G	SNAPC4	c.2611G>C	NM_003086.4	NP_003077.2:p.(Val871Leu)	NC_000009.11:g.139273668C>G	VUS	1 lab	cc06d511af
19:7117427 INSR G>A	19	7117427	7117427	G	A	INSR	c.3795-6C>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7117427G>A	(Likely) benign	1 lab	cc07cf8aa0
18:72113832 DIPK1C G>T	18	72113832	72113832	G	T	DIPK1C	c.876+9C>A	NM_001044369.3	NP_001037834.2:p.?	NC_000018.9:g.72113832G>T	(Likely) benign	1 lab	cc086bb3b4
6:51776716 PKHD1 T>C	6	51776716	51776716	T	C	PKHD1	c.6371A>G	NM_138694.4	NP_619639.3:p.(Glu2124Gly)	NC_000006.11:g.51776716T>C	(Likely) benign	1 lab	cc087e381a
X:106845849 FRMPD3 G>C	X	106845849	106845849	G	C	FRMPD3	c.4580G>C	NM_001388459.1	NP_001375388.1:p.(Gly1527Ala)	NC_000023.10:g.106845849G>C	(Likely) benign	1 lab	cc0b4d67f9
X:76891446 ATRX A>G	X	76891446	76891446	A	G	ATRX	c.4659T>C	NM_000489.6	NP_000480.3:p.(His1553=)	NC_000023.10:g.76891446A>G	(Likely) benign	1 lab	cc0b6a81d3
X:30578118 TASL T>G	X	30578118	30578118	T	G	TASL	c.355A>C	NM_025159.3	NP_079435.1:p.(Ser119Arg)	NC_000023.10:g.30578118T>G	VUS	1 lab	cc0ec44ce9
1:8420346 RERE G>A	1	8420346	8420346	G	A	RERE	c.3221C>T	NM_001042681.2	NP_001036146.1:p.(Ala1074Val)	NC_000001.10:g.8420346G>A	VUS	1 lab	cc11ee4b6c
11:73074364 ARHGEF17 G>A	11	73074364	73074364	G	A	ARHGEF17	c.5110G>A	NM_014786.4	NP_055601.2:p.(Gly1704Ser)	NC_000011.9:g.73074364G>A	(Likely) benign	1 lab	cc145d11ae
9:34648157 GALT C>T	9	34648157	34648157	C	T	GALT	c.553C>T	NM_000155.4	NP_000146.2:p.(Pro185Ser)	NC_000009.11:g.34648157C>T	(Likely) pathogenic	1 lab	cc183a9cef
1:36786652 SH3D21 A>G	1	36786652	36786652	A	G	SH3D21	c.2200-5A>G	NM_001162530.2	NP_001156002.1:p.?	NC_000001.10:g.36786652A>G	(Likely) benign	1 lab	cc1bce9298
15:101718914 CHSY1 A>C	15	101718914	101718914	A	C	CHSY1	c.1088T>G	NM_014918.5	NP_055733.2:p.(Met363Arg)	NC_000015.9:g.101718914A>C	(Likely) benign	1 lab	cc1c16a18f
15:89389083 ACAN G>A	15	89389083	89389083	G	A	ACAN	c.1399G>A	NM_001369268.1	NP_001356197.1:p.(Ala467Thr)	NC_000015.9:g.89389083G>A	VUS	1 lab	cc1c1d5867
18:72998302 TSHZ1 C>T	18	72998302	72998302	C	T	TSHZ1	c.940C>T	NM_001308210.2	NP_001295139.1:p.(His314Tyr)	NC_000018.9:g.72998302C>T	(Likely) benign	1 lab	cc1c50eb5b
11:65988129 PACS1 C>T	11	65988129	65988129	C	T	PACS1	c.1066C>T	NM_018026.4	NP_060496.2:p.(Arg356Cys)	NC_000011.9:g.65988129C>T	(Likely) benign	1 lab	cc1eb50d73
1:204129671 REN A>C	1	204129671	204129671	A	C	REN	c.492+17T>G	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204129671A>C	(Likely) benign	1 lab	2b2f12a131
X:100745830 ARMCX4 G>A	X	100745830	100745830	G	A	ARMCX4	c.2254G>A	NM_001256155.3	NP_001243084.2:p.(Ala752Thr)	NC_000023.10:g.100745830G>A	(Likely) benign	1 lab	cc200cc678
11:17409112 KCNJ11 C>T	11	17409112	17409112	C	T	KCNJ11	c.527G>A	NM_000525.4	NP_000516.3:p.(Arg176His)	NC_000011.9:g.17409112C>T	VUS	1 lab	cc21259940
6:51586771 PKHD1 G>A	6	51586771	51586771	G	A	PKHD1	c.*13C>T	NM_170724.3	NP_733842.2:p.?	NC_000006.11:g.51586771G>A	(Likely) benign	1 lab	2b32800ac0
22:26688760 SEZ6L G>A	22	26688760	26688760	G	A	SEZ6L	c.483G>A	NM_021115.5	NP_066938.2:p.(Thr161=)	NC_000022.10:g.26688760G>A	VUS	1 lab	cc2227485e
6:16328089 ATXN1 G>A	6	16328089	16328089	G	A	ATXN1	c.453C>T	NM_001128164.2	NP_001121636.1:p.(Thr151=)	NC_000006.11:g.16328089G>A	(Likely) benign	1 lab	cc22765f93
19:57325555 ZIM2 TTGGCTCAGCAGCCTCCACTTC>T	19	57325555	57325603	TTGGCTCAGCAGCCTCCACTTC	T	ZIM2	c.490+3538_490+3558del	NM_001387356.1	NP_001374285.1:p.?	NC_000019.9:g.57325583_57325603del	VUS	1 lab	cc229e647d
11:119005117 HINFP G>C	11	119005117	119005117	G	C	HINFP	c.1463G>C	NM_198971.3	NP_945322.1:p.(Gly488Ala)	NC_000011.9:g.119005117G>C	VUS	1 lab	cc23bcc5e6
2:234894427 TRPM8 G>A	2	234894427	234894427	G	A	TRPM8	c.2857G>A	NM_024080.5	NP_076985.4:p.(Glu953Lys)	NC_000002.11:g.234894427G>A	(Likely) benign	1 lab	cc25282be2
X:131763111 HS6ST2 A>G	X	131763111	131763111	A	G	HS6ST2	c.1078T>C	NM_001394073.1	NP_001381002.1:p.(Tyr360His)	NC_000023.10:g.131763111A>G	VUS	1 lab	cc252e2ed2
7:151945007 KMT2C C>T	7	151945007	151945007	C	T	KMT2C	c.2512G>A	NM_170606.3	NP_733751.2:p.(Gly838Ser)	NC_000007.13:g.151945007C>T	(Likely) benign	1 lab	cc25f7c371
X:5811063 NLGN4X T>A	X	5811063	5811063	T	A	NLGN4X	c.2246A>T	NM_181332.3	NP_851849.1:p.(His749Leu)	NC_000023.10:g.5811063T>A	VUS	1 lab	cc294bee35
13:53418892 PCDH8 C>A	13	53418892	53418892	C	A	PCDH8	c.3016G>T	NM_002590.4	NP_002581.2:p.(Ala1006Ser)	NC_000013.10:g.53418892C>A	VUS	1 lab	cc29f24b1d
10:124248964 HTRA1 C>T	10	124248964	124248964	C	T	HTRA1	c.599C>T	NM_002775.5	NP_002766.1:p.(Pro200Leu)	NC_000010.10:g.124248964C>T	VUS	1 lab	cc2a3301b6
17:56389423 TSPOAP1 C>T	17	56389423	56389423	C	T	TSPOAP1	c.2759G>A	NM_004758.4	NP_004749.2:p.(Cys920Tyr)	NC_000017.10:g.56389423C>T	VUS	1 lab	cc2c0ee2ce
8:68658383 CPA6 G>C	8	68658383	68658383	G	C	CPA6	c.-19C>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658383G>C	(Likely) benign	1 lab	2d1cee2f8f
8:21978276 HR G>A	8	21978276	21978276	G	A	HR	c.2563C>T	NM_005144.5	NP_005135.2:p.(Pro855Ser)	NC_000008.10:g.21978276G>A	(Likely) benign	1 lab	cc2cc54aa6
3:142278223 ATR C>G	3	142278223	142278223	C	G	ATR	c.1602G>C	NM_001184.4	NP_001175.2:p.(Trp534Cys)	NC_000003.11:g.142278223C>G	VUS	1 lab	cc2ddea163
6:43021516 CUL7 C>T	6	43021516	43021516	C	T	CUL7	c.-165G>A	NM_014780.5	NP_055595.2:p.?	NC_000006.11:g.43021516C>T	VUS	1 lab	cc2ee34ced
4:88537224 DSPP A>ACAGCAGTGG	4	88537224	88537231	A	ACAGCAGTGG	DSPP	c.3416_3417insTGGCAGCAG	NM_014208.3	NP_055023.2:p.(Ser1139_Asn1140insGlySerSer)	NC_000004.11:g.88537230_88537231insTGGCAGCAG	VUS	1 lab	cc315fd1a1
10:27353007 ANKRD26 T>C	10	27353007	27353007	T	C	ANKRD26	c.1273A>G	NM_014915.3	NP_055730.2:p.(Ile425Val)	NC_000010.10:g.27353007T>C	(Likely) benign	1 lab	cc317b496f
15:89400745 ACAN C>T	15	89400745	89400745	C	T	ACAN	c.4929C>T	NM_001369268.1	NP_001356197.1:p.(Pro1643=)	NC_000015.9:g.89400745C>T	(Likely) benign	1 lab	cc31f3d1f6
17:15878486 ADORA2B C>T	17	15878486	15878486	C	T	ADORA2B	c.829C>T	NM_000676.4	NP_000667.1:p.(Leu277Phe)	NC_000017.10:g.15878486C>T	VUS	1 lab	cc3430cf3c
17:71189473 COG1 C>T	17	71189473	71189473	C	T	COG1	c.265C>T	NM_018714.3	NP_061184.1:p.(Arg89Cys)	NC_000017.10:g.71189473C>T	(Likely) benign	1 lab	cc359df065
20:23029896 THBD G>GGGCCCCCCCC	20	23029896	23029897	G	GGGCCCCCCCC	THBD	c.245_246insGGGGGGGGCC	NM_000361.3	NP_000352.1:p.(Arg83GlyfsTer41)	NC_000020.10:g.23029896_23029897insGGCCCCCCCC	VUS	1 lab	cc3617a8a7
10:61819762 ANK3 A>G	10	61819762	61819762	A	G	ANK3	c.12596-574T>C	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61819762A>G	(Likely) benign	1 lab	cc36892208
2:99766943 TSGA10 C>T	2	99766943	99766943	C	T	TSGA10	c.-621+4213G>A	NM_025244.4	NP_079520.1:p.?	NC_000002.11:g.99766943C>T	(Likely) benign	1 lab	cc386926fb
18:25591802 CDH2 C>T	18	25591802	25591802	C	T	CDH2	c.546+8G>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25591802C>T	VUS	1 lab	cc3a6ef9be
1:230914757 CAPN9 T>C	1	230914757	230914757	T	C	CAPN9	c.992T>C	NM_006615.3	NP_006606.1:p.(Val331Ala)	NC_000001.10:g.230914757T>C	VUS	1 lab	cc3d3d276e
8:62626855 ASPH C>G	8	62626855	62626855	C	G	ASPH	c.76G>C	NM_004318.4	NP_004309.2:p.(Gly26Arg)	NC_000008.10:g.62626855C>G	(Likely) benign	1 lab	cc3e0bc221
11:2906087 CDKN1C G>GGCCGGT	11	2906087	2906090	G	GGCCGGT	CDKN1C	c.599_600insACCGGC	NM_001122630.2	NP_001116102.1:p.(Ala204_Pro205dup)	NC_000011.9:g.2906089_2906090insCGGTGC	(Likely) benign	1 lab	cc42d2c6ce
1:87569213 HS2ST1 T>C	1	87569213	87569213	T	C	HS2ST1	c.785T>C	NM_012262.4	NP_036394.1:p.(Met262Thr)	NC_000001.10:g.87569213T>C	VUS	1 lab	cc42dfd246
7:31008754 GHRHR G>A	7	31008754	31008754	G	A	GHRHR	c.237G>A	NM_000823.4	NP_000814.2:p.(Pro79=)	NC_000007.13:g.31008754G>A	(Likely) benign	1 lab	cc433f124f
20:60885242 LAMA5 C>T	20	60885242	60885242	C	T	LAMA5	c.10726G>A	NM_005560.6	NP_005551.3:p.(Glu3576Lys)	NC_000020.10:g.60885242C>T	(Likely) benign	1 lab	cc450c34cb
19:6924727 ADGRE1 T>C	19	6924727	6924727	T	C	ADGRE1	c.1830T>C	NM_001974.5	NP_001965.3:p.(Ile610=)	NC_000019.9:g.6924727T>C	(Likely) benign	1 lab	cc47658dcb
3:11070906 SLC6A1 G>T	3	11070906	11070906	G	T	SLC6A1	c.1192-1G>T	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11070906G>T	VUS	1 lab	cc49d22e4d
2:149241268 MBD5 G>T	2	149241268	149241268	G	T	MBD5	c.3108G>T	NM_001378120.1	NP_001365049.1:p.(Leu1036Phe)	NC_000002.11:g.149241268G>T	(Likely) benign	1 lab	cc4a0fe838
X:76918865 ATRX T>A	X	76918865	76918865	T	A	ATRX	c.4120+6A>T	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76918865T>A	(Likely) benign	1 lab	2d22ffe7cf
7:6017290 PMS2 C>T	7	6017290	6017290	C	T	PMS2	c.2374G>A	NM_000535.7	NP_000526.2:p.(Asp792Asn)	NC_000007.13:g.6017290C>T	VUS	1 lab	cc4b7024b5
3:195965707 PCYT1A C>CT	3	195965707	195965708	C	CT	PCYT1A	c.955dup	NM_001312673.2	NP_001299602.1:p.(Ser319LysfsTer42)	NC_000003.11:g.195965708dup	VUS	1 lab	cc4ba13d6a
11:4661514 OR51D1 G>A	11	4661514	4661514	G	A	OR51D1	c.494G>A	NM_001004751.3	NP_001004751.1:p.(Gly165Glu)	NC_000011.9:g.4661514G>A	VUS	1 lab	cc4e0a71a7
14:102505454 DYNC1H1 A>G	14	102505454	102505454	A	G	DYNC1H1	c.11323A>G	NM_001376.5	NP_001367.2:p.(Arg3775Gly)	NC_000014.8:g.102505454A>G	VUS	1 lab	cc4f5639fe
11:404129 PKP3 G>A	11	404129	404129	G	A	PKP3	c.2264G>A	NM_007183.4	NP_009114.1:p.(Arg755Gln)	NC_000011.9:g.404129G>A	(Likely) benign	1 lab	cc5083bae7
14:24034396 AP1G2 G>A	14	24034396	24034396	G	A	AP1G2	c.754C>T	NM_003917.5	NP_003908.1:p.(Arg252Cys)	NC_000014.8:g.24034396G>A	VUS	1 lab	cc50f38851
7:152012251 KMT2C C>T	7	152012251	152012251	C	T	KMT2C	c.562G>A	NM_170606.3	NP_733751.2:p.(Ala188Thr)	NC_000007.13:g.152012251C>T	(Likely) benign	1 lab	cc51bd437b
3:113524244 ATP6V1A A>G	3	113524244	113524244	A	G	ATP6V1A	c.1633A>G	NM_001690.4	NP_001681.2:p.(Ile545Val)	NC_000003.11:g.113524244A>G	VUS	1 lab	cc530fc655
X:30578378 TASL T>G	X	30578378	30578378	T	G	TASL	c.95A>C	NM_025159.3	NP_079435.1:p.(Glu32Ala)	NC_000023.10:g.30578378T>G	VUS	1 lab	cc542f45bf
1:145303917 NBPF10 C>G	1	145303917	145303917	C	G	NBPF10	c.1314C>G	NM_001302371.3	NP_001289300.1:p.(Asp438Glu)	NC_000001.10:g.145303917C>G	(Likely) benign	1 lab	cc54556045
3:155551382 SLC33A1 G>C	3	155551382	155551382	G	C	SLC33A1	c.1149-8C>G	NM_004733.4	NP_004724.1:p.?	NC_000003.11:g.155551382G>C	(Likely) benign	1 lab	cc546283dd
11:102996071 DYNC2H1 C>T	11	102996071	102996071	C	T	DYNC2H1	c.1857+47C>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.102996071C>T	(Likely) benign	1 lab	cc569285dc
6:32632694 HLA-DQB1 C>A	6	32632694	32632694	C	A	HLA-DQB1	c.260G>T	NM_002123.5	NP_002114.3:p.(Arg87Leu)	NC_000006.11:g.32632694C>A	(Likely) benign	1 lab	cc594a4ad5
13:111102770 COL4A2 C>T	13	111102770	111102770	C	T	COL4A2	c.1308C>T	NM_001846.4	NP_001837.2:p.(Pro436=)	NC_000013.10:g.111102770C>T	(Likely) benign	1 lab	cc5987777b
5:14461357 TRIO C>G	5	14461357	14461357	C	G	TRIO	c.5433C>G	NM_007118.4	NP_009049.2:p.(Asp1811Glu)	NC_000005.9:g.14461357C>G	(Likely) benign	1 lab	cc5b2510b7
7:5355631 TNRC18 G>A	7	5355631	5355631	G	A	TNRC18	c.6818C>T	NM_001080495.3	NP_001073964.2:p.(Pro2273Leu)	NC_000007.13:g.5355631G>A	(Likely) benign	1 lab	cc5ed483ec
9:135944141 CEL C>T	9	135944141	135944141	C	T	CEL	c.978C>T	NM_001807.6	NP_001798.3:p.(Asn326=)	NC_000009.11:g.135944141C>T	(Likely) benign	1 lab	cc5ff0e1db
3:167437928 PDCD10 T>C	3	167437928	167437928	T	C	PDCD10	c.18A>G	NM_007217.4	NP_009148.2:p.(Glu6=)	NC_000003.11:g.167437928T>C	(Likely) benign	1 lab	cc657a535a
13:23777841 SGCG G>A	13	23777841	23777841	G	A	SGCG	c.8G>A	NM_000231.3	NP_000222.2:p.(Arg3His)	NC_000013.10:g.23777841G>A	(Likely) benign	1 lab	cc66ab92ca
9:117026642 COL27A1 G>A	9	117026642	117026642	G	A	COL27A1	c.3203G>A	NM_032888.4	NP_116277.2:p.(Arg1068Gln)	NC_000009.11:g.117026642G>A	VUS	1 lab	cc66b4a7d3
5:115202418 AP3S1 A>G	5	115202418	115202418	A	G	AP3S1	c.121A>G	NM_001284.4	NP_001275.1:p.(Lys41Glu)	NC_000005.9:g.115202418A>G	VUS	1 lab	cc66f9b71b
3:46940898 PTH1R TT>GC	3	46940898	46940899	TT	GC	PTH1R	c.940_941delinsGC	NM_000316.3	NP_000307.1:p.(Phe314Ala)	NC_000003.11:g.46940898_46940899delinsGC	VUS	1 lab	cc68ee5211
17:79866830 PCYT2 C>T	17	79866830	79866830	C	T	PCYT2	c.262G>A	NM_002861.5	NP_002852.1:p.(Glu88Lys)	NC_000017.10:g.79866830C>T	VUS	1 lab	cc953fa27d
19:17778937 UNC13A C>A	19	17778937	17778937	C	A	UNC13A	c.457G>T	NM_001080421.3	NP_001073890.2:p.(Asp153Tyr)	NC_000019.9:g.17778937C>A	(Likely) benign	1 lab	cc693d0094
8:145004575 PLEC C>G	8	145004575	145004575	C	G	PLEC	c.2434G>C	NM_201384.3	NP_958786.1:p.(Val812Leu)	NC_000008.10:g.145004575C>G	VUS	1 lab	cc69c1bb43
11:124755047 ROBO4 A>G	11	124755047	124755047	A	G	ROBO4	c.2891T>C	NM_019055.6	NP_061928.4:p.(Met964Thr)	NC_000011.9:g.124755047A>G	(Likely) benign	1 lab	cc6b4e8283
13:28494373 PDX1 C>T	13	28494373	28494373	C	T	PDX1	c.98C>T	NM_000209.4	NP_000200.1:p.(Pro33Leu)	NC_000013.10:g.28494373C>T	VUS	1 lab	cc76960130
7:122811852 SLC13A1 A>G	7	122811852	122811852	A	G	SLC13A1	c.335T>C	NM_022444.4	NP_071889.2:p.(Met112Thr)	NC_000007.13:g.122811852A>G	(Likely) benign	1 lab	cc6b5460c7
7:44189357 GCK A>G	7	44189357	44189357	A	G	GCK	c.679+2T>C	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44189357A>G	(Likely) pathogenic	1 lab	cc6be754fa
16:81390471 GAN C>T	16	81390471	81390471	C	T	GAN	c.715C>T	NM_022041.4	NP_071324.1:p.(Pro239Ser)	NC_000016.9:g.81390471C>T	VUS	1 lab	cc6d219520
20:50230208 ATP9A C>G	20	50230208	50230208	C	G	ATP9A	c.2571+8G>C	NM_006045.3	NP_006036.1:p.?	NC_000020.10:g.50230208C>G	(Likely) benign	1 lab	cc6d5b67cc
20:47605044 ARFGEF2 C>T	20	47605044	47605044	C	T	ARFGEF2	c.2378C>T	NM_006420.3	NP_006411.2:p.(Thr793Met)	NC_000020.10:g.47605044C>T	VUS	1 lab	cc6e1b8e98
12:48372456 COL2A1 C>T	12	48372456	48372456	C	T	COL2A1	c.2819G>A	NM_001844.5	NP_001835.3:p.(Arg940Gln)	NC_000012.11:g.48372456C>T	VUS	1 lab	cc6efa3266
19:54677872 MBOAT7 T>C	19	54677872	54677872	T	C	MBOAT7	c.1285A>G	NM_024298.5	NP_077274.3:p.(Ile429Val)	NC_000019.9:g.54677872T>C	(Likely) benign	1 lab	cc6fb641cd
19:7120689 INSR G>A	19	7120689	7120689	G	A	INSR	c.3601C>T	NM_000208.4	NP_000199.2:p.(Arg1201Trp)	NC_000019.9:g.7120689G>A	(Likely) pathogenic	1 lab	cc70777f41
7:98522735 TRRAP G>A	7	98522735	98522735	G	A	TRRAP	c.2824G>A	NM_001375524.1	NP_001362453.1:p.(Ala942Thr)	NC_000007.13:g.98522735G>A	VUS	1 lab	cc723f2233
11:2591954 KCNQ1 C>T	11	2591954	2591954	C	T	KCNQ1	c.574C>T	NM_000218.3	NP_000209.2:p.(Arg192Cys)	NC_000011.9:g.2591954C>T	VUS	1 lab	cc726eb566
18:19424134 MIB1 A>G	18	19424134	19424134	A	G	MIB1	c.2131A>G	NM_020774.4	NP_065825.1:p.(Thr711Ala)	NC_000018.9:g.19424134A>G	VUS	1 lab	2b43343672
7:128850837 SMO C>T	7	128850837	128850837	C	T	SMO	c.1684C>T	NM_005631.5	NP_005622.1:p.(Arg562Trp)	NC_000007.13:g.128850837C>T	VUS	1 lab	cc735278ea
5:140590641 PCDHB12 C>G	5	140590641	140590641	C	G	PCDHB12	c.2162C>G	NM_018932.4	NP_061755.1:p.(Pro721Arg)	NC_000005.9:g.140590641C>G	(Likely) benign	1 lab	cc73754e66
17:72943106 OTOP3 A>G	17	72943106	72943106	A	G	OTOP3	c.1102A>G	NM_001272005.2	NP_001258934.1:p.(Met368Val)	NC_000017.10:g.72943106A>G	VUS	1 lab	cc746c2fef
2:100623249 AFF3 C>T	2	100623249	100623249	C	T	AFF3	c.718G>A	NM_001386135.1	NP_001373064.1:p.(Gly240Ser)	NC_000002.11:g.100623249C>T	VUS	1 lab	cc772f4d47
16:2009629 NDUFB10 C>T	16	2009629	2009629	C	T	NDUFB10	c.4C>T	NM_004548.3	NP_004539.1:p.(Pro2Ser)	NC_000016.9:g.2009629C>T	VUS	1 lab	cc77cbfe36
7:73803579 CLIP2 C>T	7	73803579	73803579	C	T	CLIP2	c.2710C>T	NM_003388.5	NP_003379.4:p.(Arg904Trp)	NC_000007.13:g.73803579C>T	VUS	1 lab	cc78114a34
X:115584177 SLC6A14 C>T	X	115584177	115584177	C	T	SLC6A14	c.1160-5C>T	NM_007231.5	NP_009162.1:p.?	NC_000023.10:g.115584177C>T	(Likely) benign	1 lab	cc78673d20
15:66209238 MEGF11 C>T	15	66209238	66209238	C	T	MEGF11	c.2143G>A	NM_001385028.1	NP_001371957.1:p.(Gly715Arg)	NC_000015.9:g.66209238C>T	VUS	1 lab	cc794f0a17
X:114426483 RBMXL3 G>A	X	114426483	114426483	G	A	RBMXL3	c.2479G>A	NM_001145346.2	NP_001138818.1:p.(Asp827Asn)	NC_000023.10:g.114426483G>A	VUS	1 lab	cc7bf99c5f
13:32929291 BRCA2 A>C	13	32929291	32929291	A	C	BRCA2	c.7301A>C	NM_000059.4	NP_000050.3:p.(Lys2434Thr)	NC_000013.10:g.32929291A>C	VUS	1 lab	cc7c21cfcc
X:153941684 GAB3 G>A	X	153941684	153941684	G	A	GAB3	c.394C>T	NM_001081573.3	NP_001075042.1:p.(Leu132Phe)	NC_000023.10:g.153941684G>A	(Likely) benign	1 lab	cc7c9b4110
16:2814730 SRRM2 A>C	16	2814730	2814730	A	C	SRRM2	c.4201A>C	NM_016333.4	NP_057417.3:p.(Ser1401Arg)	NC_000016.9:g.2814730A>C	VUS	1 lab	cc7cdb0df1
X:10188750 CLCN4 C>A	X	10188750	10188750	C	A	CLCN4	c.2025C>A	NM_001830.4	NP_001821.2:p.(Tyr675Ter)	NC_000023.10:g.10188750C>A	(Likely) pathogenic	1 lab	cc7d0db85d
5:131972860 RAD50 G>A	5	131972860	131972860	G	A	RAD50	c.3443G>A	NM_005732.4	NP_005723.2:p.(Arg1148His)	NC_000005.9:g.131972860G>A	VUS	1 lab	cc7d7b420d
8:19277985 CSGALNACT1 T>C	8	19277985	19277985	T	C	CSGALNACT1	c.998A>G	NM_001354483.2	NP_001341412.1:p.(Glu333Gly)	NC_000008.10:g.19277985T>C	VUS	1 lab	cc7f3e2afd
2:179621490 TTN A>C	2	179621490	179621490	A	C	TTN	c.10713T>G	NM_001267550.2	NP_001254479.2:p.(Asp3571Glu)	NC_000002.11:g.179621490A>C	VUS	1 lab	cc802118de
4:56831981 CEP135 G>A	4	56831981	56831981	G	A	CEP135	c.1000G>A	NM_025009.5	NP_079285.2:p.(Glu334Lys)	NC_000004.11:g.56831981G>A	VUS	1 lab	cc807936b2
15:89401157 ACAN G>A	15	89401157	89401157	G	A	ACAN	c.5341G>A	NM_001369268.1	NP_001356197.1:p.(Gly1781Ser)	NC_000015.9:g.89401157G>A	VUS	1 lab	cc80d99a0b
16:30097869 TBX6 G>A	16	30097869	30097869	G	A	TBX6	c.1061C>T	NM_004608.4	NP_004599.2:p.(Ala354Val)	NC_000016.9:g.30097869G>A	VUS	1 lab	cc814e14ad
19:5705817 LONP1 G>C	19	5705817	5705817	G	C	LONP1	c.1333C>G	NM_004793.4	NP_004784.2:p.(Leu445Val)	NC_000019.9:g.5705817G>C	VUS	1 lab	cc81af5d29
8:144885547 SCRIB G>A	8	144885547	144885547	G	A	SCRIB	c.3603+6C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144885547G>A	(Likely) benign	1 lab	cc81e3685b
12:101748852 UTP20 A>G	12	101748852	101748852	A	G	UTP20	c.5350A>G	NM_014503.3	NP_055318.2:p.(Thr1784Ala)	NC_000012.11:g.101748852A>G	(Likely) benign	1 lab	cc82719bd6
21:47545737 COL6A2 A>G	21	47545737	47545737	A	G	COL6A2	c.2008A>G	NM_001849.4	NP_001840.3:p.(Thr670Ala)	NC_000021.8:g.47545737A>G	VUS	1 lab	cc828c86fb
1:150484987 ECM1 G>A	1	150484987	150484987	G	A	ECM1	c.1324G>A	NM_001202858.2	NP_001189787.1:p.(Gly442Ser)	NC_000001.10:g.150484987G>A	(Likely) benign	1 lab	2b44360322
8:55539581 RP1 C>T	8	55539581	55539581	C	T	RP1	c.3139C>T	NM_006269.2	NP_006260.1:p.(Pro1047Ser)	NC_000008.10:g.55539581C>T	(Likely) benign	1 lab	cc82cfe393
19:1045212 ABCA7 C>T	19	1045212	1045212	C	T	ABCA7	c.1427C>T	NM_019112.4	NP_061985.2:p.(Thr476Ile)	NC_000019.9:g.1045212C>T	VUS	1 lab	cc8507683a
2:179410270 TTN C>T	2	179410270	179410270	C	T	TTN	c.95567G>A	NM_001267550.2	NP_001254479.2:p.(Arg31856His)	NC_000002.11:g.179410270C>T	(Likely) benign	1 lab	cc88c343fc
2:112608350 ANAPC1 T>C	2	112608350	112608350	T	C	ANAPC1	c.1650+3A>G	NM_022662.4	NP_073153.1:p.?	NC_000002.11:g.112608350T>C	(Likely) benign	1 lab	cc88fe83ad
X:22291983 CBLL2 T>G	X	22291983	22291983	T	G	CBLL2	c.875T>G	NM_152577.4	NP_689790.1:p.(Val292Gly)	NC_000023.10:g.22291983T>G	(Likely) benign	1 lab	cc89887dbe
12:58109639 OS9 C>A	12	58109639	58109639	C	A	OS9	c.676C>A	NM_006812.4	NP_006803.1:p.(Arg226=)	NC_000012.11:g.58109639C>A	VUS	1 lab	cc89fa78b3
1:68512883 DIRAS3 C>T	1	68512883	68512883	C	T	DIRAS3	c.98G>A	NM_004675.4	NP_004666.1:p.(Arg33Lys)	NC_000001.10:g.68512883C>T	VUS	1 lab	cc8b9e318c
19:5896572 NDUFA11 C>T	19	5896572	5896572	C	T	NDUFA11	c.205G>A	NM_175614.5	NP_783313.1:p.(Val69Met)	NC_000019.9:g.5896572C>T	VUS	1 lab	cc8ba2885e
15:89383280 ACAN C>T	15	89383280	89383280	C	T	ACAN	c.492C>T	NM_001369268.1	NP_001356197.1:p.(Tyr164=)	NC_000015.9:g.89383280C>T	(Likely) benign	1 lab	cc8cea0b85
10:78647127 KCNMA1 C>T	10	78647127	78647127	C	T	KCNMA1	c.3608G>A	NM_001161352.2	NP_001154824.1:p.(Ser1203Asn)	NC_000010.10:g.78647127C>T	VUS	1 lab	cc8d0a5beb
4:114275816 ANK2 A>T	4	114275816	114275816	A	T	ANK2	c.6042A>T	NM_001148.6	NP_001139.3:p.(Lys2014Asn)	NC_000004.11:g.114275816A>T	VUS	1 lab	cc8d1228b4
2:220354313 SPEG C>T	2	220354313	220354313	C	T	SPEG	c.8573C>T	NM_005876.5	NP_005867.3:p.(Ala2858Val)	NC_000002.11:g.220354313C>T	(Likely) benign	1 lab	cc8d379736
17:61473191 TANC2 T>C	17	61473191	61473191	T	C	TANC2	c.3139T>C	NM_001394998.1	NP_001381927.1:p.(Cys1047Arg)	NC_000017.10:g.61473191T>C	VUS	1 lab	cc8f9489d3
10:62021642 ANK3 G>A	10	62021642	62021642	G	A	ANK3	c.773C>T	NM_020987.5	NP_066267.2:p.(Ala258Val)	NC_000010.10:g.62021642G>A	VUS	1 lab	cc8ff013c3
7:104730562 KMT2E C>T	7	104730562	104730562	C	T	KMT2E	c.1465C>T	NM_182931.3	NP_891847.1:p.(Arg489Trp)	NC_000007.13:g.104730562C>T	(Likely) benign	1 lab	cc930682c4
5:140235934 PCDHA1 T>A	5	140235934	140235934	T	A	PCDHA1	c.2394+67665T>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140235934T>A	VUS	1 lab	cc9472710d
9:135704037 AK8 T>A	9	135704037	135704037	T	A	AK8	c.479A>T	NM_152572.3	NP_689785.1:p.(His160Leu)	NC_000009.11:g.135704037T>A	VUS	1 lab	cc98130357
8:86044159 LRRCC1 G>A	8	86044159	86044159	G	A	LRRCC1	c.1931G>A	NM_033402.5	NP_208325.3:p.(Arg644His)	NC_000008.10:g.86044159G>A	VUS	1 lab	cc9813e1d8
11:95527370 CEP57 C>CTT	11	95527370	95527380	C	CTT	CEP57	c.45+3472_45+3473dup	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95527379_95527380dup	(Likely) benign	1 lab	cc997bb224
19:54941770 TTYH1 A>G	19	54941770	54941770	A	G	TTYH1	c.926A>G	NM_020659.4	NP_065710.1:p.(Asn309Ser)	NC_000019.9:g.54941770A>G	VUS	1 lab	cc9a40196f
3:49850785 UBA7 C>T	3	49850785	49850785	C	T	UBA7	c.257G>A	NM_003335.3	NP_003326.2:p.(Ser86Asn)	NC_000003.11:g.49850785C>T	(Likely) benign	1 lab	cc9a50a25c
3:15686310 BTD C>A	3	15686310	15686310	C	A	BTD	c.887C>A	NM_001370658.1	NP_001357587.1:p.(Pro296His)	NC_000003.11:g.15686310C>A	(Likely) pathogenic	1 lab	cc9ad6aa6c
20:45905049 ZMYND8 G>A	20	45905049	45905049	G	A	ZMYND8	c.1480+9C>T	NM_001281775.3	NP_001268704.1:p.?	NC_000020.10:g.45905049G>A	(Likely) benign	1 lab	cc9ade9954
2:178592806 PDE11A A>T	2	178592806	178592806	A	T	PDE11A	c.1883T>A	NM_016953.4	NP_058649.3:p.(Leu628His)	NC_000002.11:g.178592806A>T	VUS	1 lab	cc9d813b1d
X:102334782 NXF3 C>A	X	102334782	102334782	C	A	NXF3	c.1069G>T	NM_022052.2	NP_071335.1:p.(Asp357Tyr)	NC_000023.10:g.102334782C>A	VUS	1 lab	cc9e267e93
21:34950681 DONSON G>A	21	34950681	34950681	G	A	DONSON	c.1633C>T	NM_017613.4	NP_060083.1:p.(Pro545Ser)	NC_000021.8:g.34950681G>A	VUS	1 lab	cc9e412fd4
16:3819311 CREBBP G>T	16	3819311	3819311	G	T	CREBBP	c.2924C>A	NM_004380.3	NP_004371.2:p.(Pro975His)	NC_000016.9:g.3819311G>T	(Likely) benign	1 lab	cca14fd379
12:56996606 BAZ2A T>A	12	56996606	56996606	T	A	BAZ2A	c.3315A>T	NM_001300905.2	NP_001287834.1:p.(Ser1105=)	NC_000012.11:g.56996606T>A	VUS	1 lab	cca19bc8bd
3:53263425 TKT G>A	3	53263425	53263425	G	A	TKT	c.1135C>T	NM_001064.4	NP_001055.1:p.(Arg379Cys)	NC_000003.11:g.53263425G>A	VUS	1 lab	cca201b3a8
20:62493581 ABHD16B G>A	20	62493581	62493581	G	A	ABHD16B	c.688G>A	NM_080622.4	NP_542189.1:p.(Ala230Thr)	NC_000020.10:g.62493581G>A	VUS	1 lab	cca31ab4a1
9:135946957 CEL C>G	9	135946957	135946957	C	G	CEL	c.2068C>G	NM_001807.6	NP_001798.3:p.(Pro690Ala)	NC_000009.11:g.135946957C>G	VUS	1 lab	cca3372086
9:86474227 KIF27 C>G	9	86474227	86474227	C	G	KIF27	c.2994G>C	NM_017576.4	NP_060046.1:p.(Leu998Phe)	NC_000009.11:g.86474227C>G	VUS	1 lab	cca4a17bc8
6:33419634 SYNGAP1 G>C	6	33419634	33419634	G	C	SYNGAP1	c.3983G>C	NM_006772.3	NP_006763.2:p.(Arg1328Pro)	NC_000006.11:g.33419634G>C	(Likely) benign	1 lab	cca50340d8
7:1785565 ELFN1 C>T	7	1785565	1785565	C	T	ELFN1	c.1333C>T	NM_001128636.4	NP_001122108.1:p.(Arg445Cys)	NC_000007.13:g.1785565C>T	(Likely) benign	1 lab	cca56dc871
11:49176026 FOLH1 C>T	11	49176026	49176026	C	T	FOLH1	c.1642G>A	NM_004476.3	NP_004467.1:p.(Gly548Ser)	NC_000011.9:g.49176026C>T	VUS	1 lab	cca692b627
14:68260479 ZFYVE26 G>A	14	68260479	68260479	G	A	ZFYVE26	c.2402-3C>T	NM_015346.4	NP_056161.2:p.?	NC_000014.8:g.68260479G>A	VUS	1 lab	ccaa185934
11:66192261 NPAS4 C>G	11	66192261	66192261	C	G	NPAS4	c.1900C>G	NM_178864.4	NP_849195.2:p.(Arg634Gly)	NC_000011.9:g.66192261C>G	VUS	1 lab	ccab662b03
12:115117379 TBX3 A>G	12	115117379	115117379	A	G	TBX3	c.735T>C	NM_005996.4	NP_005987.3:p.(Tyr245=)	NC_000012.11:g.115117379A>G	(Likely) benign	1 lab	ccabd2e04b
1:57351581 C8A C>T	1	57351581	57351581	C	T	C8A	c.856-19C>T	NM_000562.2	NP_000553.1:p.?	NC_000001.10:g.57351581C>T	(Likely) benign	1 lab	2d25a9c5cc
15:25220535 SNRPN C>T	15	25220535	25220535	C	T	SNRPN	c.34C>T	NM_003097.6	NP_003088.1:p.(His12Tyr)	NC_000015.9:g.25220535C>T	VUS	1 lab	ccade7de9f
7:796607 DNAAF5 C>G	7	796607	796607	C	G	DNAAF5	c.1446C>G	NM_017802.4	NP_060272.3:p.(Ala482=)	NC_000007.13:g.796607C>G	(Likely) benign	1 lab	ccaf88bd26
2:107041001 RGPD3 T>A	2	107041001	107041001	T	A	RGPD3	c.3422A>T	NM_001144013.2	NP_001137485.1:p.(Asp1141Val)	NC_000002.11:g.107041001T>A	VUS	1 lab	ccafe86119
17:79170846 CEP131 G>GA	17	79170846	79170847	G	GA	CEP131	c.1656_1657insT	NM_014984.4	NP_055799.2:p.(Pro553SerfsTer80)	NC_000017.10:g.79170846_79170847insA	VUS	1 lab	ccb0154a0f
17:29701105 NF1 G>A	17	29701105	29701105	G	A	NF1	c.8452G>A	NM_001042492.3	NP_001035957.1:p.(Ala2818Thr)	NC_000017.10:g.29701105G>A	VUS	1 lab	ccb184ec76
10:76784951 KAT6B CAG>C	10	76784951	76784955	CAG	C	KAT6B	c.3611_3612del	NM_012330.4	NP_036462.2:p.(Glu1204GlyfsTer14)	NC_000010.10:g.76784954_76784955del	(Likely) pathogenic	1 lab	ccb2282c2f
12:21623284 RECQL CA>C	12	21623284	21623300	CA	C	RECQL	c.1798-5del	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623300del	(Likely) benign	1 lab	ccb284ddcd
13:40325147 COG6 G>GT	13	40325147	40325148	G	GT	COG6	c.1892dup	NM_020751.3	NP_065802.1:p.(Met632AspfsTer6)	NC_000013.10:g.40325148dup	VUS	1 lab	2b446eda99
11:17483305 ABCC8 C>T	11	17483305	17483305	C	T	ABCC8	c.647G>A	NM_000352.6	NP_000343.2:p.(Arg216His)	NC_000011.9:g.17483305C>T	VUS	1 lab	ccb35e0d73
3:49137195 QARS1 G>A	3	49137195	49137195	G	A	QARS1	c.1387C>T	NM_005051.3	NP_005042.1:p.(Arg463Ter)	NC_000003.11:g.49137195G>A	(Likely) pathogenic	1 lab	ccb366b560
6:146755762 GRM1 C>T	6	146755762	146755762	C	T	GRM1	c.3415C>T	NM_001278064.2	NP_001264993.1:p.(Pro1139Ser)	NC_000006.11:g.146755762C>T	VUS	1 lab	ccb3a6d35e
3:58112333 FLNB G>A	3	58112333	58112333	G	A	FLNB	c.4066G>A	NM_001457.4	NP_001448.2:p.(Ala1356Thr)	NC_000003.11:g.58112333G>A	VUS	1 lab	ccb416fef3
16:30975974 SETD1A G>C	16	30975974	30975974	G	C	SETD1A	c.911G>C	NM_014712.3	NP_055527.1:p.(Ser304Thr)	NC_000016.9:g.30975974G>C	VUS	1 lab	ccb48e3bfd
22:18898403 DGCR6 G>A	22	18898403	18898403	G	A	DGCR6	c.375G>A	NM_005675.6	NP_005666.2:p.(Ala125=)	NC_000022.10:g.18898403G>A	VUS	1 lab	ccb54f38eb
1:40874411 SMAP2 G>A	1	40874411	40874411	G	A	SMAP2	c.323+1G>A	NM_022733.3	NP_073570.1:p.?	NC_000001.10:g.40874411G>A	(Likely) benign	1 lab	ccb665411d
6:51947279 PKHD1 G>A	6	51947279	51947279	G	A	PKHD1	c.192C>T	NM_138694.4	NP_619639.3:p.(Asn64=)	NC_000006.11:g.51947279G>A	VUS	1 lab	ccb688359a
19:10655489 ATG4D G>A	19	10655489	10655489	G	A	ATG4D	c.266G>A	NM_032885.6	NP_116274.3:p.(Ser89Asn)	NC_000019.9:g.10655489G>A	(Likely) benign	1 lab	ccbbd5559d
17:39221758 KRTAP2-4 CGCAGGGGGGCCGGCA>C	17	39221758	39221781	CGCAGGGGGGCCGGCA	C	KRTAP2-4	c.325_339del	NM_033184.4	NP_149440.1:p.(Cys109_Cys113del)	NC_000017.10:g.39221767_39221781del	VUS	1 lab	ccbbe4b354
X:10456124 MID1 C>G	X	10456124	10456124	C	G	MID1	c.865-5456G>C	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10456124C>G	(Likely) benign	1 lab	ccbe56de09
2:44145540 LRPPRC G>A	2	44145540	44145540	G	A	LRPPRC	c.2897-3C>T	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44145540G>A	(Likely) benign	1 lab	ccc858f8a6
20:464726 CSNK2A1 A>ATCACATT	20	464726	464727	A	ATCACATT	CSNK2A1	c.1061-7_1061-6insAATGTGA	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.464726_464727insTCACATT	VUS	1 lab	ccbf1e189a
16:3645662 SLX4 T>G	16	3645662	3645662	T	G	SLX4	c.1957A>C	NM_032444.4	NP_115820.2:p.(Thr653Pro)	NC_000016.9:g.3645662T>G	(Likely) benign	1 lab	ccc047bba7
11:111171256 POU2AF3 A>G	11	111171256	111171256	A	G	POU2AF3	c.12A>G	NM_001271458.2	NP_001258387.1:p.(Lys4=)	NC_000011.9:g.111171256A>G	(Likely) benign	1 lab	ccc0e1c19b
22:32017706 PISD G>A	22	32017706	32017706	G	A	PISD	c.487C>T	NM_001326411.2	NP_001313340.1:p.(Arg163Cys)	NC_000022.10:g.32017706G>A	VUS	1 lab	ccc1184485
5:176026162 GPRIN1 G>A	5	176026162	176026162	G	A	GPRIN1	c.674C>T	NM_052899.3	NP_443131.2:p.(Thr225Met)	NC_000005.9:g.176026162G>A	VUS	1 lab	ccc1cd16fc
17:7592072 WRAP53 G>A	17	7592072	7592072	G	A	WRAP53	c.106G>A	NM_001143992.2	NP_001137464.1:p.(Ala36Thr)	NC_000017.10:g.7592072G>A	VUS	1 lab	ccc2315647
20:62038731 KCNQ2 G>A	20	62038731	62038731	G	A	KCNQ2	c.1888-3C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62038731G>A	(Likely) benign	1 lab	ccc2baf25c
7:75051283 POM121C G>A	7	75051283	75051283	G	A	POM121C	c.2252C>T	NM_001099415.3	NP_001092885.2:p.(Thr751Met)	NC_000007.13:g.75051283G>A	(Likely) benign	1 lab	ccc582fc09
15:43362998 UBR1 C>A	15	43362998	43362998	C	A	UBR1	c.654G>T	NM_174916.3	NP_777576.1:p.(Gln218His)	NC_000015.9:g.43362998C>A	(Likely) benign	1 lab	ccc5b31c1c
12:25374812 KRAS C>T	12	25374812	25374812	C	T	KRAS	c.450+3736G>A	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25374812C>T	(Likely) benign	1 lab	ccc700b321
6:38877519 DNAH8 A>G	6	38877519	38877519	A	G	DNAH8	c.9739A>G	NM_001206927.2	NP_001193856.1:p.(Arg3247Gly)	NC_000006.11:g.38877519A>G	VUS	1 lab	ccc734ccb0
11:65402737 PCNX3 G>A	11	65402737	65402737	G	A	PCNX3	c.5002G>A	NM_032223.4	NP_115599.2:p.(Asp1668Asn)	NC_000011.9:g.65402737G>A	VUS	1 lab	ccc88ec074
17:8172349 PFAS G>C	17	8172349	8172349	G	C	PFAS	c.3784G>C	NM_012393.3	NP_036525.1:p.(Asp1262His)	NC_000017.10:g.8172349G>C	VUS	1 lab	ccc8f31129
1:229643910 NUP133 G>A	1	229643910	229643910	G	A	NUP133	c.87C>T	NM_018230.3	NP_060700.2:p.(Pro29=)	NC_000001.10:g.229643910G>A	(Likely) benign	1 lab	2d2917540f
17:57721769 CLTC A>G	17	57721769	57721769	A	G	CLTC	c.175A>G	NM_004859.4	NP_004850.1:p.(Ser59Gly)	NC_000017.10:g.57721769A>G	VUS	1 lab	cccae9be64
11:103039514 DYNC2H1 C>A	11	103039514	103039514	C	A	DYNC2H1	c.4793C>A	NM_001377.3	NP_001368.2:p.(Ala1598Asp)	NC_000011.9:g.103039514C>A	VUS	1 lab	cccb32470a
6:118804932 CEP85L C>G	6	118804932	118804932	C	G	CEP85L	c.1527G>C	NM_001042475.3	NP_001035940.1:p.(Glu509Asp)	NC_000006.11:g.118804932C>G	VUS	1 lab	cccb86ed1e
8:109094857 RSPO2 G>A	8	109094857	109094857	G	A	RSPO2	c.10C>T	NM_178565.5	NP_848660.3:p.(Arg4Cys)	NC_000008.10:g.109094857G>A	VUS	1 lab	cccce55674
12:106804623 POLR3B G>A	12	106804623	106804623	G	A	POLR3B	c.986G>A	NM_018082.6	NP_060552.4:p.(Arg329Gln)	NC_000012.11:g.106804623G>A	VUS	1 lab	cccf5a0ffb
17:5486043 NLRP1 G>C	17	5486043	5486043	G	C	NLRP1	c.395C>G	NM_033004.4	NP_127497.1:p.(Ser132Ter)	NC_000017.10:g.5486043G>C	(Likely) benign	1 lab	2d2a829921
8:55533600 RP1 G>A	8	55533600	55533600	G	A	RP1	c.74G>A	NM_006269.2	NP_006260.1:p.(Arg25His)	NC_000008.10:g.55533600G>A	VUS	1 lab	ccd0818607
7:23205387 KLHL7 A>T	7	23205387	23205387	A	T	KLHL7	c.1007A>T	NM_001031710.3	NP_001026880.2:p.(Asn336Ile)	NC_000007.13:g.23205387A>T	(Likely) benign	1 lab	ccd0d0fd55
2:179393370 TTN G>A	2	179393370	179393370	G	A	TTN	c.107108C>T	NM_001267550.2	NP_001254479.2:p.(Ala35703Val)	NC_000002.11:g.179393370G>A	(Likely) benign	1 lab	ccd19202de
X:138714519 MCF2 T>C	X	138714519	138714519	T	C	MCF2	c.326A>G	NM_001171876.2	NP_001165347.1:p.(Gln109Arg)	NC_000023.10:g.138714519T>C	VUS	1 lab	ccd214d41c
7:27239501 HOXA13 C>A	7	27239501	27239501	C	A	HOXA13	c.196G>T	NM_000522.5	NP_000513.2:p.(Ala66Ser)	NC_000007.13:g.27239501C>A	(Likely) benign	1 lab	ccd2545da9
7:117424433 CTTNBP2 TGAA>T	7	117424433	117424440	TGAA	T	CTTNBP2	c.2141_2143del	NM_033427.3	NP_219499.1:p.(Leu714del)	NC_000007.13:g.117424438_117424440del	VUS	1 lab	da70d98ff6
11:532662 HRAS T>C	11	532662	532662	T	C	HRAS	c.544A>G	NM_005343.4	NP_005334.1:p.(Met182Val)	NC_000011.9:g.532662T>C	VUS	1 lab	ccd397b9fd
11:130070013 ST14 A>G	11	130070013	130070013	A	G	ST14	c.1975A>G	NM_021978.4	NP_068813.1:p.(Ile659Val)	NC_000011.9:g.130070013A>G	(Likely) benign	1 lab	ccd43f2111
14:23346337 LRP10 G>T	14	23346337	23346337	G	T	LRP10	c.1743G>T	NM_014045.5	NP_054764.2:p.(Gln581His)	NC_000014.8:g.23346337G>T	(Likely) benign	1 lab	ccd53fcac5
12:110566907 IFT81 A>G	12	110566907	110566907	A	G	IFT81	c.401A>G	NM_014055.4	NP_054774.2:p.(Asp134Gly)	NC_000012.11:g.110566907A>G	(Likely) benign	1 lab	ccd546b87f
1:110740693 SLC6A17 C>T	1	110740693	110740693	C	T	SLC6A17	c.1816-5C>T	NM_001010898.4	NP_001010898.1:p.?	NC_000001.10:g.110740693C>T	(Likely) benign	1 lab	ccd631f3ea
15:91492561 UNC45A G>A	15	91492561	91492561	G	A	UNC45A	c.1894G>A	NM_018671.5	NP_061141.2:p.(Val632Met)	NC_000015.9:g.91492561G>A	VUS	1 lab	ccd6c1134f
4:119644815 SEC24D G>GA	4	119644815	119644825	G	GA	SEC24D	c.2959-6dup	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119644825dup	(Likely) benign	1 lab	ccd7be281e
16:67680806 CARMIL2 G>A	16	67680806	67680806	G	A	CARMIL2	c.541G>A	NM_001013838.3	NP_001013860.1:p.(Val181Met)	NC_000016.9:g.67680806G>A	(Likely) benign	1 lab	ccd902dec1
11:83641521 DLG2 G>A	11	83641521	83641521	G	A	DLG2	c.1346C>T	NM_001142699.3	NP_001136171.1:p.(Pro449Leu)	NC_000011.9:g.83641521G>A	VUS	1 lab	ccd9188007
4:151236769 LRBA T>C	4	151236769	151236769	T	C	LRBA	c.7637A>G	NM_001364905.1	NP_001351834.1:p.(Gln2546Arg)	NC_000004.11:g.151236769T>C	VUS	1 lab	ccd91cd82c
7:4825279 AP5Z1 G>T	7	4825279	4825279	G	T	AP5Z1	c.1096G>T	NM_014855.3	NP_055670.1:p.(Val366Leu)	NC_000007.13:g.4825279G>T	(Likely) benign	1 lab	ccda171f91
5:179260239 SQSTM1 G>A	5	179260239	179260239	G	A	SQSTM1	c.962G>A	NM_003900.5	NP_003891.1:p.(Arg321His)	NC_000005.9:g.179260239G>A	VUS	1 lab	ccda41904f
14:77786877 POMT2 G>C	14	77786877	77786877	G	C	POMT2	c.148C>G	NM_013382.7	NP_037514.2:p.(Arg50Gly)	NC_000014.8:g.77786877G>C	VUS	1 lab	ccdb2931da
19:1105661 GPX4 C>CA	19	1105661	1105662	C	CA	GPX4	c.330dup	NM_002085.5	NP_002076.2:p.(Gly111delinsArgGluTer)	NC_000019.9:g.1105662dup	(Likely) pathogenic	1 lab	ccdcf6e34d
12:52159486 SCN8A C>G	12	52159486	52159486	C	G	SCN8A	c.2576C>G	NM_014191.4	NP_055006.1:p.(Pro859Arg)	NC_000012.11:g.52159486C>G	VUS	1 lab	2d2de2e9ea
6:109802447 ZBTB24 G>A	6	109802447	109802447	G	A	ZBTB24	c.783C>T	NM_014797.2	NP_055612.2:p.(Ser261=)	NC_000006.11:g.109802447G>A	(Likely) benign	1 lab	2d2df69343
19:50364510 PNKP C>T	19	50364510	50364510	C	T	PNKP	c.1561G>A	NM_007254.4	NP_009185.2:p.(Gly521Ser)	NC_000019.9:g.50364510C>T	VUS	1 lab	cce12bb81c
6:111726792 REV3L A>T	6	111726792	111726792	A	T	REV3L	c.446T>A	NM_001372078.1	NP_001359007.1:p.(Phe149Tyr)	NC_000006.11:g.111726792A>T	(Likely) benign	1 lab	cce143afe8
6:168376971 MISSING G>GA	6	168376971	168376972	G	GA	MISSING				NC_000006.11:g.168376972dup	VUS	1 lab	cce192870b
12:58157522 CYP27B1 G>A	12	58157522	58157522	G	A	CYP27B1	c.1285C>T	NM_000785.4	NP_000776.1:p.(Arg429Cys)	NC_000012.11:g.58157522G>A	VUS	1 lab	cce1b63411
9:139401369 NOTCH1 G>A	9	139401369	139401369	G	A	NOTCH1	c.3700C>T	NM_017617.5	NP_060087.3:p.(Arg1234Trp)	NC_000009.11:g.139401369G>A	VUS	1 lab	cce2378dca
19:34890921 GPI C>T	19	34890921	34890921	C	T	GPI	c.1657C>T	NM_000175.5	NP_000166.2:p.(Arg553Cys)	NC_000019.9:g.34890921C>T	VUS	1 lab	cce307cfec
6:157099989 ARID1B G>A	6	157099989	157099989	G	A	ARID1B	c.1175G>A	NM_001374828.1	NP_001361757.1:p.(Gly392Asp)	NC_000006.11:g.157099989G>A	VUS	1 lab	cce424104c
9:94495613 ROR2 G>A	9	94495613	94495613	G	A	ROR2	c.728C>T	NM_004560.4	NP_004551.2:p.(Ser243Phe)	NC_000009.11:g.94495613G>A	VUS	1 lab	cce49fad25
X:48542280 WAS G>A	X	48542280	48542280	G	A	WAS	c.38G>A	NM_000377.3	NP_000368.1:p.(Arg13Gln)	NC_000023.10:g.48542280G>A	VUS	1 lab	cce71ab8d7
X:16737945 SYAP1 C>T	X	16737945	16737945	C	T	SYAP1	c.98C>T	NM_032796.4	NP_116185.2:p.(Thr33Met)	NC_000023.10:g.16737945C>T	VUS	1 lab	cce7b43d84
14:59003730 KIAA0586 A>T	14	59003730	59003730	A	T	KIAA0586	c.4430-3059A>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003730A>T	(Likely) benign	1 lab	cce930b47e
1:1451462 ATAD3A G>C	1	1451462	1451462	G	C	ATAD3A	c.276G>C	NM_001170535.3	NP_001164006.1:p.(Lys92Asn)	NC_000001.10:g.1451462G>C	VUS	1 lab	ccea5f3d9e
22:51143191 SHANK3 G>A	22	51143191	51143191	G	A	SHANK3	c.2022G>A	NM_001372044.2	NP_001358973.1:p.(Thr674=)	NC_000022.10:g.51143191G>A	VUS	1 lab	cceadba3dd
14:103454125 CDC42BPB A>AACAC	14	103454125	103454161	A	AACAC	CDC42BPB	c.597-1212_597-1209dup	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103454158_103454161dup	(Likely) benign	1 lab	cceb7f4507
6:44117962 TMEM63B T>C	6	44117962	44117962	T	C	TMEM63B	c.1522T>C	NM_018426.3	NP_060896.1:p.(Ser508Pro)	NC_000006.11:g.44117962T>C	(Likely) pathogenic	1 lab	da71243dc8
11:57573381 CTNND1 C>T	11	57573381	57573381	C	T	CTNND1	c.1750C>T	NM_001085458.2	NP_001078927.1:p.(Arg584Trp)	NC_000011.9:g.57573381C>T	VUS	1 lab	ccedbe2683
15:89400140 ACAN GCCCCT>G	15	89400140	89400145	GCCCCT	G	ACAN	c.4325_4329del	NM_001369268.1	NP_001356197.1:p.(Ala1442GlyfsTer65)	NC_000015.9:g.89400141_89400145del	VUS	1 lab	ccee7eaaf7
1:60299129 HOOK1 C>A	1	60299129	60299129	C	A	HOOK1	c.326C>A	NM_015888.6	NP_056972.1:p.(Thr109Asn)	NC_000001.10:g.60299129C>A	(Likely) benign	1 lab	cceecfc53f
12:89860672 POC1B C>T	12	89860672	89860672	C	T	POC1B	c.907G>A	NM_172240.3	NP_758440.1:p.(Glu303Lys)	NC_000012.11:g.89860672C>T	VUS	1 lab	ccf04dea6b
14:92471564 TRIP11 A>G	14	92471564	92471564	A	G	TRIP11	c.2756T>C	NM_004239.4	NP_004230.2:p.(Ile919Thr)	NC_000014.8:g.92471564A>G	VUS	1 lab	ccf399ad8a
8:77766071 ZFHX4 T>C	8	77766071	77766071	T	C	ZFHX4	c.6914T>C	NM_024721.5	NP_078997.4:p.(Ile2305Thr)	NC_000008.10:g.77766071T>C	VUS	1 lab	ccf41f1bc6
11:17408533 KCNJ11 C>A	11	17408533	17408533	C	A	KCNJ11	c.1106G>T	NM_000525.4	NP_000516.3:p.(Arg369Leu)	NC_000011.9:g.17408533C>A	VUS	1 lab	ccf562bbd3
14:75078617 LTBP2 C>T	14	75078617	75078617	C	T	LTBP2	c.31G>A	NM_000428.3	NP_000419.1:p.(Gly11Arg)	NC_000014.8:g.75078617C>T	(Likely) benign	1 lab	ccf6821166
8:140631178 KCNK9 G>A	8	140631178	140631178	G	A	KCNK9	c.448C>T	NM_001282534.2	NP_001269463.1:p.(Arg150Cys)	NC_000008.10:g.140631178G>A	VUS	1 lab	ccf9447174
3:41723090 ULK4 C>T	3	41723090	41723090	C	T	ULK4	c.2887G>A	NM_017886.4	NP_060356.2:p.(Val963Met)	NC_000003.11:g.41723090C>T	(Likely) benign	1 lab	ccf9b4293d
16:19621704 VPS35L A>G	16	19621704	19621704	A	G	VPS35L	c.990A>G	NM_020314.7	NP_064710.5:p.(Leu330=)	NC_000016.9:g.19621704A>G	(Likely) benign	1 lab	ccfa964aa6
11:556507 LMNTD2 G>A	11	556507	556507	G	A	LMNTD2	c.1058C>T	NM_173573.3	NP_775844.2:p.(Pro353Leu)	NC_000011.9:g.556507G>A	VUS	1 lab	ccfaa1a001
12:85497795 LRRIQ1 G>A	12	85497795	85497795	G	A	LRRIQ1	c.3223G>A	NM_001079910.2	NP_001073379.1:p.(Val1075Ile)	NC_000012.11:g.85497795G>A	(Likely) benign	1 lab	ccfb33ff32
X:117731469 DOCK11 A>G	X	117731469	117731469	A	G	DOCK11	c.2339A>G	NM_144658.4	NP_653259.3:p.(Asn780Ser)	NC_000023.10:g.117731469A>G	(Likely) benign	1 lab	ccfc4e5cd0
11:117279606 CEP164 G>T	11	117279606	117279606	G	T	CEP164	c.3610G>T	NM_014956.5	NP_055771.4:p.(Ala1204Ser)	NC_000011.9:g.117279606G>T	VUS	1 lab	cd088326ef
6:170173467 ERMARD G>A	6	170173467	170173467	G	A	ERMARD	c.1286G>A	NM_018341.3	NP_060811.1:p.(Arg429His)	NC_000006.11:g.170173467G>A	(Likely) benign	1 lab	cd09d0519f
15:41866015 TYRO3 T>TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	15	41866015	41866016	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	TYRO3	c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41866015_41866016insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGCGAATG	(Likely) benign	1 lab	ccfe8ddb3b
14:105180656 INF2 G>GT	14	105180656	105180657	G	GT	INF2	c.3158dup	NM_022489.4	NP_071934.3:p.(Thr1054AspfsTer36)	NC_000014.8:g.105180657dup	VUS	1 lab	ccff1f2655
X:96167327 DIAPH2 C>T	X	96167327	96167327	C	T	DIAPH2	c.588C>T	NM_006729.5	NP_006720.1:p.(Ser196=)	NC_000023.10:g.96167327C>T	(Likely) benign	1 lab	cd000632b5
6:117232185 RFX6 G>C	6	117232185	117232185	G	C	RFX6	c.760G>C	NM_173560.4	NP_775831.2:p.(Gly254Arg)	NC_000006.11:g.117232185G>C	VUS	1 lab	cd002fbb7b
5:160029649 ATP10B C>T	5	160029649	160029649	C	T	ATP10B	c.3298G>A	NM_025153.3	NP_079429.2:p.(Val1100Met)	NC_000005.9:g.160029649C>T	(Likely) benign	1 lab	cd013e5fae
22:41574713 EP300 C>T	22	41574713	41574713	C	T	EP300	c.6998C>T	NM_001429.4	NP_001420.2:p.(Pro2333Leu)	NC_000022.10:g.41574713C>T	(Likely) pathogenic	1 lab	cd035fa224
11:89088185 NOX4 G>A	11	89088185	89088185	G	A	NOX4	c.1162C>T	NM_016931.5	NP_058627.2:p.(Pro388Ser)	NC_000011.9:g.89088185G>A	(Likely) benign	1 lab	cd047c1dec
X:20062644 MAP7D2 T>C	X	20062644	20062644	T	C	MAP7D2	c.719-2A>G	NM_001168465.2	NP_001161937.1:p.?	NC_000023.10:g.20062644T>C	(Likely) benign	1 lab	cd04904015
5:45303799 HCN1 G>T	5	45303799	45303799	G	T	HCN1	c.1520C>A	NM_021072.4	NP_066550.2:p.(Ala507Asp)	NC_000005.9:g.45303799G>T	VUS	1 lab	cd05e4632f
19:8186249 FBN3 G>A	19	8186249	8186249	G	A	FBN3	c.3104C>T	NM_032447.5	NP_115823.3:p.(Ser1035Phe)	NC_000019.9:g.8186249G>A	VUS	1 lab	cd066352ba
13:52532505 ATP7B G>A	13	52532505	52532505	G	A	ATP7B	c.2297C>T	NM_000053.4	NP_000044.2:p.(Thr766Met)	NC_000013.10:g.52532505G>A	(Likely) pathogenic	1 lab	2d32286163
19:56545029 NLRP5 G>A	19	56545029	56545029	G	A	NLRP5	c.2569G>A	NM_153447.4	NP_703148.4:p.(Ala857Thr)	NC_000019.9:g.56545029G>A	(Likely) benign	1 lab	cd0879d0fe
11:113934659 ZBTB16 C>T	11	113934659	113934659	C	T	ZBTB16	c.637C>T	NM_006006.6	NP_005997.2:p.(Leu213Phe)	NC_000011.9:g.113934659C>T	(Likely) benign	1 lab	cd0b99b8ba
19:42863038 MEGF8 A>G	19	42863038	42863038	A	G	MEGF8	c.5275A>G	NM_001271938.2	NP_001258867.1:p.(Met1759Val)	NC_000019.9:g.42863038A>G	(Likely) benign	1 lab	cd0c703acd
16:69189767 UTP4 T>C	16	69189767	69189767	T	C	UTP4	c.1165-7T>C	NM_032830.3	NP_116219.2:p.?	NC_000016.9:g.69189767T>C	(Likely) benign	1 lab	cd0c8e8835
17:8415860 MYH10 ATCTCT>A	17	8415860	8415868	ATCTCT	A	MYH10	c.2856_2860del	NM_001256012.3	NP_001242941.1:p.(Glu952AspfsTer4)	NC_000017.10:g.8415864_8415868del	VUS	1 lab	cd0cbfd1e9
7:44193024 GCK CT>C	7	44193024	44193025	CT	C	GCK	c.83del	NM_000162.5	NP_000153.1:p.(Glu28GlyfsTer3)	NC_000007.13:g.44193025del	(Likely) pathogenic	1 lab	cd0e3622ca
22:40042874 CACNA1I C>T	22	40042874	40042874	C	T	CACNA1I	c.1450C>T	NM_021096.4	NP_066919.2:p.(Pro484Ser)	NC_000022.10:g.40042874C>T	(Likely) benign	1 lab	cd1179294c
1:114523092 OLFML3 G>A	1	114523092	114523092	G	A	OLFML3	c.253G>A	NM_020190.5	NP_064575.1:p.(Gly85Arg)	NC_000001.10:g.114523092G>A	(Likely) benign	1 lab	cd11b8febd
X:153633896 DNASE1L1 G>A	X	153633896	153633896	G	A	DNASE1L1	c.14C>T	NM_001303620.2	NP_001290549.1:p.(Thr5Ile)	NC_000023.10:g.153633896G>A	VUS	1 lab	cd11cbf5ad
12:110246383 TRPV4 T>C	12	110246383	110246383	T	C	TRPV4	c.387-110A>G	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110246383T>C	(Likely) benign	1 lab	2d3d7e12ea
17:11622752 DNAH9 G>A	17	11622752	11622752	G	A	DNAH9	c.5654G>A	NM_001372.4	NP_001363.2:p.(Arg1885His)	NC_000017.10:g.11622752G>A	VUS	1 lab	cd1384de38
14:92441562 TRIP11 C>T	14	92441562	92441562	C	T	TRIP11	c.5411G>A	NM_004239.4	NP_004230.2:p.(Arg1804Gln)	NC_000014.8:g.92441562C>T	(Likely) benign	1 lab	cd157dd127
6:26027345 H4C2 G>A	6	26027345	26027345	G	A	H4C2	c.136C>T	NM_003544.3	NP_003535.1:p.(Arg46Ter)	NC_000006.11:g.26027345G>A	VUS	1 lab	cd1581b111
7:21677237 DNAH11 G>C	7	21677237	21677237	G	C	DNAH11	c.4734G>C	NM_001277115.2	NP_001264044.1:p.(Met1578Ile)	NC_000007.13:g.21677237G>C	(Likely) benign	1 lab	cd15b21b48
2:211457613 CPS1 A>G	2	211457613	211457613	A	G	CPS1	c.1097A>G	NM_001875.5	NP_001866.2:p.(His366Arg)	NC_000002.11:g.211457613A>G	VUS	1 lab	cd15e80d38
1:247588438 NLRP3 T>A	1	247588438	247588438	T	A	NLRP3	c.1687T>A	NM_001243133.2	NP_001230062.1:p.(Tyr563Asn)	NC_000001.10:g.247588438T>A	(Likely) pathogenic	1 lab	2d3fa64ca3
X:149787504 MTM1 C>T	X	149787504	149787504	C	T	MTM1	c.343-7C>T	NM_000252.3	NP_000243.1:p.?	NC_000023.10:g.149787504C>T	(Likely) benign	1 lab	cd181039a0
X:63411695 AMER1 C>T	X	63411695	63411695	C	T	AMER1	c.1472G>A	NM_152424.4	NP_689637.3:p.(Arg491His)	NC_000023.10:g.63411695C>T	(Likely) benign	1 lab	cd188bc528
X:133988247 PABIR3 G>A	X	133988247	133988247	G	A	PABIR3	c.813G>A	NM_001388447.1	NP_001375376.1:p.(Ter271=)	NC_000023.10:g.133988247G>A	VUS	1 lab	cd18ac44e9
14:55312519 GCH1 C>T	14	55312519	55312519	C	T	GCH1	c.593G>A	NM_000161.3	NP_000152.1:p.(Arg198Gln)	NC_000014.8:g.55312519C>T	VUS	1 lab	cd19ad9853
2:216235004 FN1 C>T	2	216235004	216235004	C	T	FN1	c.6853+13G>A	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216235004C>T	(Likely) benign	1 lab	2d41f87381
18:19752034 GATA6 A>G	18	19752034	19752034	A	G	GATA6	c.929A>G	NM_005257.5	NP_005248.2:p.(Tyr310Cys)	NC_000018.9:g.19752034A>G	VUS	1 lab	2d41f9eeb8
4:160243503 RAPGEF2 A>C	4	160243503	160243503	A	C	RAPGEF2	c.858A>C	NM_001394067.2	NP_001380996.1:p.(Gln286His)	NC_000004.11:g.160243503A>C	(Likely) benign	1 lab	cd1f2d98bb
15:90209102 PLIN1 C>G	15	90209102	90209102	C	G	PLIN1	c.1281G>C	NM_002666.5	NP_002657.3:p.(Glu427Asp)	NC_000015.9:g.90209102C>G	(Likely) benign	1 lab	cd1fad8187
16:624492 PIGQ C>T	16	624492	624492	C	T	PIGQ	c.418C>T	NM_004204.5	NP_004195.2:p.(Gln140Ter)	NC_000016.9:g.624492C>T	(Likely) pathogenic	1 lab	cd219676b5
X:140993841 MAGEC1 C>CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCT	X	140993841	140993912	C	CCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCT	MAGEC1	c.721_722insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT	NM_005462.5	NP_005453.2:p.(Ser241PhefsTer4)	NC_000023.10:g.140993911_140993912insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT	VUS	1 lab	cd235a6de9
1:196448322 KCNT2 T>A	1	196448322	196448322	T	A	KCNT2	c.371A>T	NM_198503.5	NP_940905.2:p.(Tyr124Phe)	NC_000001.10:g.196448322T>A	(Likely) benign	1 lab	cd23c84e98
17:17699515 RAI1 G>C	17	17699515	17699515	G	C	RAI1	c.3253G>C	NM_030665.4	NP_109590.3:p.(Gly1085Arg)	NC_000017.10:g.17699515G>C	VUS	1 lab	cd258cb23f
12:6690513 CHD4 C>T	12	6690513	6690513	C	T	CHD4	c.4723G>A	NM_001273.5	NP_001264.2:p.(Glu1575Lys)	NC_000012.11:g.6690513C>T	VUS	1 lab	cd26dc8d0e
4:57356588 SRP72 A>G	4	57356588	57356588	A	G	SRP72	c.1410A>G	NM_006947.4	NP_008878.3:p.(Leu470=)	NC_000004.11:g.57356588A>G	(Likely) benign	1 lab	cd273a13cd
X:54051068 PHF8 A>C	X	54051068	54051068	A	C	PHF8	c.99-1792T>G	NM_015107.3	NP_055922.1:p.?	NC_000023.10:g.54051068A>C	VUS	1 lab	2b53b87017
6:43022080 MRPL2 G>C	6	43022080	43022080	G	C	MRPL2	c.850C>G	NM_015950.5	NP_057034.2:p.(Arg284Gly)	NC_000006.11:g.43022080G>C	VUS	1 lab	cd29ccbd0f
X:102338185 NXF3 T>A	X	102338185	102338185	T	A	NXF3	c.557A>T	NM_022052.2	NP_071335.1:p.(Asn186Ile)	NC_000023.10:g.102338185T>A	(Likely) benign	1 lab	cd2a4d79d4
7:1037382 CHLSN GC>G	7	1037382	1037385	GC	G	CHLSN	c.463del	NM_001318252.2	NP_001305181.1:p.(Ala155ProfsTer4)	NC_000007.13:g.1037385del	VUS	1 lab	cd2a823844
17:29298383 RNF135 C>G	17	29298383	29298383	C	G	RNF135	c.292C>G	NM_032322.4	NP_115698.3:p.(Pro98Ala)	NC_000017.10:g.29298383C>G	(Likely) benign	1 lab	cd2b626254
9:2033061 SMARCA2 C>A	9	2033061	2033061	C	A	SMARCA2	c.335C>A	NM_003070.5	NP_003061.3:p.(Pro112Gln)	NC_000009.11:g.2033061C>A	VUS	1 lab	cd2c4bc642
X:50350725 SHROOM4 T>TTCC	X	50350725	50350728	T	TTCC	SHROOM4	c.3416_3417insGGA	NM_020717.5	NP_065768.2:p.(Glu1151dup)	NC_000023.10:g.50350727_50350728insCTC	VUS	1 lab	cd2c9b786d
14:92537354 ATXN3 C>CTGCTGCTG	14	92537354	92537355	C	CTGCTGCTG	ATXN3	c.915_916insCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer28)	NC_000014.8:g.92537354_92537355insTGCTGCTG	(Likely) benign	1 lab	cd2d527b87
6:117198648 RFX6 G>A	6	117198648	117198648	G	A	RFX6	c.210G>A	NM_173560.4	NP_775831.2:p.(Gly70=)	NC_000006.11:g.117198648G>A	(Likely) benign	1 lab	cd2dcb4592
2:27669188 IFT172 A>C	2	27669188	27669188	A	C	IFT172	c.4694T>G	NM_015662.3	NP_056477.1:p.(Leu1565Trp)	NC_000002.11:g.27669188A>C	VUS	1 lab	cd2ddbf4d0
4:74008105 ANKRD17 A>G	4	74008105	74008105	A	G	ANKRD17	c.2086-3T>C	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.74008105A>G	VUS	1 lab	cd2f646076
19:50365437 PNKP C>G	19	50365437	50365437	C	G	PNKP	c.1126+5G>C	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365437C>G	VUS	1 lab	cd30e53852
19:7150530 INSR C>T	19	7150530	7150530	C	T	INSR	c.2245G>A	NM_000208.4	NP_000199.2:p.(Gly749Ser)	NC_000019.9:g.7150530C>T	(Likely) benign	1 lab	cd3144fb5b
5:180038485 FLT4 G>A	5	180038485	180038485	G	A	FLT4	c.3538-6C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180038485G>A	(Likely) benign	1 lab	cd3552d632
1:54417904 LRRC42 CGA>C	1	54417904	54417909	CGA	C	LRRC42	c.236_237del	NM_001256409.2	NP_001243338.1:p.(Glu79GlyfsTer26)	NC_000001.10:g.54417908_54417909del	VUS	1 lab	cd35b0c3ce
22:20458982 RIMBP3 G>A	22	20458982	20458982	G	A	RIMBP3	c.2320C>T	NM_015672.2	NP_056487.1:p.(Pro774Ser)	NC_000022.10:g.20458982G>A	VUS	1 lab	cd363a02bc
4:191003255 MISSING G>C	4	191003255	191003255	G	C	MISSING				NC_000004.11:g.191003255G>C	(Likely) benign	1 lab	cd36f07cff
18:77440248 CTDP1 G>A	18	77440248	77440248	G	A	CTDP1	c.301G>A	NM_004715.5	NP_004706.3:p.(Val101Met)	NC_000018.9:g.77440248G>A	(Likely) benign	1 lab	cd37dda87c
10:127477531 UROS T>C	10	127477531	127477531	T	C	UROS	c.704A>G	NM_000375.3	NP_000366.1:p.(Gln235Arg)	NC_000010.10:g.127477531T>C	(Likely) benign	1 lab	cd3903a627
12:56137258 GDF11 C>G	12	56137258	56137258	C	G	GDF11	c.158C>G	NM_005811.5	NP_005802.1:p.(Pro53Arg)	NC_000012.11:g.56137258C>G	(Likely) benign	1 lab	cd3932ef38
X:135956413 RBMX C>CT	X	135956413	135956416	C	CT	RBMX	c.1063dup	NM_002139.4	NP_002130.2:p.(Arg355LysfsTer8)	NC_000023.10:g.135956416dup	(Likely) pathogenic	1 lab	cd39df6da5
15:40500977 BUB1B A>TC	15	40500977	40500977	A	TC	BUB1B	c.2143+6delinsTC	NM_001211.6	NP_001202.5:p.?	NC_000015.9:g.40500977delinsTC	(Likely) benign	1 lab	cd3aace0ea
12:4768306 NDUFA9 C>T	12	4768306	4768306	C	T	NDUFA9	c.515C>T	NM_005002.5	NP_004993.1:p.(Ala172Val)	NC_000012.11:g.4768306C>T	VUS	1 lab	cd3bcb8946
3:172165933 GHSR G>A	3	172165933	172165933	G	A	GHSR	c.271C>T	NM_198407.2	NP_940799.1:p.(Leu91Phe)	NC_000003.11:g.172165933G>A	(Likely) benign	1 lab	cd3cdfaa79
14:95574112 DICER1 A>C	14	95574112	95574112	A	C	DICER1	c.2651-14T>G	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95574112A>C	VUS	1 lab	cd3f492b19
20:43042349 HNF4A G>A	20	43042349	43042349	G	A	HNF4A	c.401G>A	NM_000457.5	NP_000448.3:p.(Arg134Gln)	NC_000020.10:g.43042349G>A	(Likely) pathogenic	1 lab	cd406e4f64
14:77746241 POMT2 C>T	14	77746241	77746241	C	T	POMT2	c.1816G>A	NM_013382.7	NP_037514.2:p.(Ala606Thr)	NC_000014.8:g.77746241C>T	VUS	1 lab	cd4129cbe0
2:166003527 SCN3A C>T	2	166003527	166003527	C	T	SCN3A	c.1393G>A	NM_006922.4	NP_008853.3:p.(Ala465Thr)	NC_000002.11:g.166003527C>T	VUS	1 lab	cd444d9f2d
19:42791884 CIC C>T	19	42791884	42791884	C	T	CIC	c.3492+5C>T	NM_001386298.1	NP_001373227.1:p.?	NC_000019.9:g.42791884C>T	(Likely) benign	1 lab	cd4663cadd
2:55184929 EML6 G>A	2	55184929	55184929	G	A	EML6	c.4489G>A	NM_001039753.4	NP_001034842.2:p.(Ala1497Thr)	NC_000002.11:g.55184929G>A	(Likely) benign	1 lab	cd49be9072
14:35593251 PRORP A>G	14	35593251	35593251	A	G	PRORP	c.800A>G	NM_014672.4	NP_055487.2:p.(Tyr267Cys)	NC_000014.8:g.35593251A>G	VUS	1 lab	cd4a2267a8
17:78083862 GAA G>A	17	78083862	78083862	G	A	GAA	c.1437+8G>A	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78083862G>A	(Likely) benign	1 lab	cd4b01e9e7
16:3076725 THOC6 C>T	16	3076725	3076725	C	T	THOC6	c.529C>T	NM_024339.5	NP_077315.2:p.(Arg177Trp)	NC_000016.9:g.3076725C>T	VUS	1 lab	2b56775c9b
17:39766504 KRT16 A>G	17	39766504	39766504	A	G	KRT16	c.1281-16T>C	NM_005557.4	NP_005548.2:p.?	NC_000017.10:g.39766504A>G	(Likely) benign	1 lab	2b56e163d4
18:21116770 NPC1 A>C	18	21116770	21116770	A	C	NPC1	c.3112T>G	NM_000271.5	NP_000262.2:p.(Phe1038Val)	NC_000018.9:g.21116770A>C	(Likely) pathogenic	1 lab	cd4c83f750
19:42799176 CIC G>A	19	42799176	42799176	G	A	CIC	c.7387G>A	NM_001386298.1	NP_001373227.1:p.(Ala2463Thr)	NC_000019.9:g.42799176G>A	VUS	1 lab	cd4cedfaf8
X:7194089 STS G>A	X	7194089	7194089	G	A	STS	c.904G>A	NM_001320752.2	NP_001307681.2:p.(Val302Ile)	NC_000023.10:g.7194089G>A	(Likely) benign	1 lab	cd4db64385
1:155204996 GBA1 C>T	1	155204996	155204996	C	T	GBA1	c.1495G>A	NM_000157.4	NP_000148.2:p.(Val499Met)	NC_000001.10:g.155204996C>T	VUS	1 lab	cd4de36dbf
19:19763526 ATP13A1 G>T	19	19763526	19763526	G	T	ATP13A1	c.2104C>A	NM_020410.3	NP_065143.2:p.(Arg702=)	NC_000019.9:g.19763526G>T	VUS	1 lab	cd4e6fe654
10:285372 ZMYND11 C>T	10	285372	285372	C	T	ZMYND11	c.610-6C>T	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.285372C>T	(Likely) benign	1 lab	cd4f79e579
16:58752439 GOT2 C>T	16	58752439	58752439	C	T	GOT2	c.589G>A	NM_002080.4	NP_002071.2:p.(Asp197Asn)	NC_000016.9:g.58752439C>T	VUS	1 lab	cd4fd5fc2f
14:69347632 ACTN1 C>T	14	69347632	69347632	C	T	ACTN1	c.2028G>A	NM_001130004.2	NP_001123476.1:p.(Lys676=)	NC_000014.8:g.69347632C>T	(Likely) benign	1 lab	cd50348d66
1:176681125 PAPPA2 G>T	1	176681125	176681125	G	T	PAPPA2	c.3798+8G>T	NM_020318.3	NP_064714.2:p.?	NC_000001.10:g.176681125G>T	(Likely) benign	1 lab	cd50a1df89
2:74274147 TET3 C>T	2	74274147	74274147	C	T	TET3	c.1103C>T	NM_001287491.2	NP_001274420.1:p.(Ser368Phe)	NC_000002.11:g.74274147C>T	(Likely) benign	1 lab	cd50f3f326
3:129280752 PLXND1 G>A	3	129280752	129280752	G	A	PLXND1	c.4826-6C>T	NM_015103.3	NP_055918.3:p.?	NC_000003.11:g.129280752G>A	(Likely) benign	1 lab	cd510143b4
19:55363669 KIR3DL2 G>C	19	55363669	55363669	G	C	KIR3DL2	c.287G>C	NM_006737.4	NP_006728.2:p.(Arg96Pro)	NC_000019.9:g.55363669G>C	(Likely) benign	1 lab	cd51cc1f08
7:151875048 KMT2C C>T	7	151875048	151875048	C	T	KMT2C	c.7490G>A	NM_170606.3	NP_733751.2:p.(Arg2497His)	NC_000007.13:g.151875048C>T	(Likely) benign	1 lab	cd52e1fc2a
19:50100861 PRR12 C>G	19	50100861	50100861	C	G	PRR12	c.3269C>G	NM_020719.3	NP_065770.1:p.(Thr1090Ser)	NC_000019.9:g.50100861C>G	(Likely) benign	1 lab	cd544c4df9
16:75576533 TMEM231 T>A	16	75576533	75576533	T	A	TMEM231	c.631A>T	NM_001077418.3	NP_001070886.1:p.(Thr211Ser)	NC_000016.9:g.75576533T>A	(Likely) benign	1 lab	cd545ccb7c
4:1807658 FGFR3 C>G	4	1807658	1807658	C	G	FGFR3	c.1827C>G	NM_000142.5	NP_000133.1:p.(Ala609=)	NC_000004.11:g.1807658C>G	(Likely) benign	1 lab	cd55c8fb68
5:67522101 PIK3R1 G>A	5	67522101	67522101	G	A	PIK3R1	c.-386-17G>A	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67522101G>A	(Likely) benign	1 lab	2d44ae5b47
2:228197310 MFF T>TTGGCAGACTAAAA	2	228197310	228197311	T	TTGGCAGACTAAAA	MFF	c.351+6_351+7insTGGCAGACTAAAA	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228197310_228197311insTGGCAGACTAAAA	VUS	1 lab	cd57b9f5eb
15:91346738 BLM A>G	15	91346738	91346738	A	G	BLM	c.3359-13A>G	NM_000057.2	NP_000048.1:p.?	NC_000015.9:g.91346738A>G	(Likely) benign	1 lab	2d452a135e
22:41558782 EP300 C>G	22	41558782	41558782	C	G	EP300	c.3727C>G	NM_001429.4	NP_001420.2:p.(Leu1243Val)	NC_000022.10:g.41558782C>G	(Likely) benign	1 lab	cd59cee380
22:51018815 CHKB G>A	22	51018815	51018815	G	A	CHKB	c.708C>T	NM_005198.5	NP_005189.2:p.(Val236=)	NC_000022.10:g.51018815G>A	(Likely) benign	1 lab	cd5c52d061
X:148044471 AFF2 A>C	X	148044471	148044471	A	C	AFF2	c.2913+4A>C	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.148044471A>C	VUS	1 lab	cd5d1fbfca
11:58919380 FAM111A T>C	11	58919380	58919380	T	C	FAM111A	c.239T>C	NM_001312909.2	NP_001299838.1:p.(Val80Ala)	NC_000011.9:g.58919380T>C	(Likely) benign	1 lab	cd5d797e84
17:6499468 KIAA0753 C>A	17	6499468	6499468	C	A	KIAA0753	c.2358+10G>T	NM_014804.3	NP_055619.2:p.?	NC_000017.10:g.6499468C>A	(Likely) benign	1 lab	cd5f9cea24
13:30815194 KATNAL1 A>T	13	30815194	30815194	A	T	KATNAL1	c.522T>A	NM_032116.5	NP_115492.1:p.(Ser174Arg)	NC_000013.10:g.30815194A>T	VUS	1 lab	cd6006abca
9:129456083 LMX1B T>G	9	129456083	129456083	T	G	LMX1B	c.878T>G	NM_001174147.2	NP_001167618.1:p.(Leu293Arg)	NC_000009.11:g.129456083T>G	VUS	1 lab	cd60c9bec0
16:29998148 TAOK2 C>T	16	29998148	29998148	C	T	TAOK2	c.2555C>T	NM_016151.4	NP_057235.2:p.(Pro852Leu)	NC_000016.9:g.29998148C>T	VUS	1 lab	cd610f6987
20:44642776 MMP9 G>A	20	44642776	44642776	G	A	MMP9	c.1764G>A	NM_004994.3	NP_004985.2:p.(Trp588Ter)	NC_000020.10:g.44642776G>A	VUS	1 lab	cd624ffa95
19:55648472 TNNT1 G>A	19	55648472	55648472	G	A	TNNT1	c.610C>T	NM_003283.6	NP_003274.3:p.(Arg204Trp)	NC_000019.9:g.55648472G>A	VUS	1 lab	ce9c538b4f
1:155158650 MUC1 G>A	1	155158650	155158650	G	A	MUC1	c.1416C>T	NM_001204286.1	NP_001191215.1:p.(Tyr472=)	NC_000001.10:g.155158650G>A	(Likely) benign	1 lab	2d499aa3fa
6:17421788 CAP2 T>C	6	17421788	17421788	T	C	CAP2	c.2T>C	NM_006366.3	NP_006357.1:p.(Met1?)	NC_000006.11:g.17421788T>C	VUS	1 lab	cd65ff8385
11:66455396 SPTBN2 G>A	11	66455396	66455396	G	A	SPTBN2	c.6451-7C>T	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66455396G>A	(Likely) benign	1 lab	cd661e17df
11:66466997 SPTBN2 C>T	11	66466997	66466997	C	T	SPTBN2	c.3656G>A	NM_006946.4	NP_008877.2:p.(Ser1219Asn)	NC_000011.9:g.66466997C>T	VUS	1 lab	cd6a2bf4d0
3:122647420 SEMA5B G>A	3	122647420	122647420	G	A	SEMA5B	c.580C>T	NM_001031702.4	NP_001026872.2:p.(Arg194Trp)	NC_000003.11:g.122647420G>A	VUS	1 lab	cd6af44414
18:77478020 CTDP1 C>T	18	77478020	77478020	C	T	CTDP1	c.2417+4C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77478020C>T	VUS	1 lab	cd6b771b09
14:35477892 SRP54 C>A	14	35477892	35477892	C	A	SRP54	c.420C>A	NM_003136.4	NP_003127.1:p.(Phe140Leu)	NC_000014.8:g.35477892C>A	VUS	1 lab	cd6cd67daf
15:89392980 ACAN G>A	15	89392980	89392980	G	A	ACAN	c.2026+18G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89392980G>A	(Likely) benign	1 lab	cd6db803e7
9:109687605 ZNF462 A>C	9	109687605	109687605	A	C	ZNF462	c.1412A>C	NM_021224.6	NP_067047.4:p.(Lys471Thr)	NC_000009.11:g.109687605A>C	VUS	1 lab	cd6e3d37cb
16:27788282 KATNIP A>G	16	27788282	27788282	A	G	KATNIP	c.4483A>G	NM_015202.5	NP_056017.4:p.(Thr1495Ala)	NC_000016.9:g.27788282A>G	VUS	1 lab	cd6ebf3033
7:98608823 TRRAP C>G	7	98608823	98608823	C	G	TRRAP	c.11087C>G	NM_001375524.1	NP_001362453.1:p.(Ala3696Gly)	NC_000007.13:g.98608823C>G	VUS	1 lab	cd6f21c116
18:46570533 DYM C>A	18	46570533	46570533	C	A	DYM	c.2067G>T	NM_001353214.3	NP_001340143.1:p.(Gln689His)	NC_000018.9:g.46570533C>A	(Likely) benign	1 lab	cd73d159a4
6:75838029 COL12A1 G>A	6	75838029	75838029	G	A	COL12A1	c.6323C>T	NM_004370.6	NP_004361.3:p.(Thr2108Ile)	NC_000006.11:g.75838029G>A	(Likely) benign	1 lab	cd73e9212d
1:210857345 KCNH1 C>A	1	210857345	210857345	C	A	KCNH1	c.2248G>T	NM_172362.3	NP_758872.1:p.(Ala750Ser)	NC_000001.10:g.210857345C>A	(Likely) benign	1 lab	cd743d8483
6:42934550 PEX6 C>T	6	42934550	42934550	C	T	PEX6	c.1931G>A	NM_000287.4	NP_000278.3:p.(Arg644Gln)	NC_000006.11:g.42934550C>T	VUS	1 lab	cd763326c2
X:32827629 DMD C>G	X	32827629	32827629	C	G	DMD	c.630G>C	NM_004006.3	NP_003997.2:p.(Glu210Asp)	NC_000023.10:g.32827629C>G	(Likely) benign	1 lab	cd770b0088
6:24205283 DCDC2 C>T	6	24205283	24205283	C	T	DCDC2	c.970G>A	NM_016356.5	NP_057440.2:p.(Ala324Thr)	NC_000006.11:g.24205283C>T	VUS	1 lab	cd77ad616f
12:32886667 DNM1L A>G	12	32886667	32886667	A	G	DNM1L	c.1465A>G	NM_012062.5	NP_036192.2:p.(Ile489Val)	NC_000012.11:g.32886667A>G	VUS	1 lab	cd78189574
3:196742297 MELTF A>C	3	196742297	196742297	A	C	MELTF	c.1172T>G	NM_005929.6	NP_005920.2:p.(Leu391Arg)	NC_000003.11:g.196742297A>C	VUS	1 lab	cd79bda040
15:55516023 RAB27A C>T	15	55516023	55516023	C	T	RAB27A	c.467+64G>A	NM_004580.5	NP_004571.2:p.?	NC_000015.9:g.55516023C>T	(Likely) benign	1 lab	2d506fc7eb
12:80660261 OTOGL A>G	12	80660261	80660261	A	G	OTOGL	c.2255A>G	NM_001378609.3	NP_001365538.2:p.(His752Arg)	NC_000012.11:g.80660261A>G	VUS	1 lab	cd7ad8be3d
22:19349374 HIRA G>A	22	19349374	19349374	G	A	HIRA	c.1856C>T	NM_003325.4	NP_003316.3:p.(Pro619Leu)	NC_000022.10:g.19349374G>A	(Likely) benign	1 lab	cd7b91a85e
19:10823717 QTRT1 G>A	19	10823717	10823717	G	A	QTRT1	c.1059+1G>A	NM_031209.3	NP_112486.1:p.?	NC_000019.9:g.10823717G>A	VUS	1 lab	cd7bce1bfa
6:7568135 DSP T>C	6	7568135	7568135	T	C	DSP	c.1262T>C	NM_004415.4	NP_004406.2:p.(Leu421Pro)	NC_000006.11:g.7568135T>C	VUS	1 lab	da713299bc
5:16477863 RETREG1 A>C	5	16477863	16477863	A	C	RETREG1	c.908T>G	NM_001034850.3	NP_001030022.1:p.(Val303Gly)	NC_000005.9:g.16477863A>C	VUS	1 lab	cd80b911c8
11:78780823 TENM4 T>C	11	78780823	78780823	T	C	TENM4	c.167A>G	NM_001098816.3	NP_001092286.2:p.(Tyr56Cys)	NC_000011.9:g.78780823T>C	VUS	1 lab	cd80e8b9c9
17:4495684 SMTNL2 C>T	17	4495684	4495684	C	T	SMTNL2	c.428C>T	NM_001114974.2	NP_001108446.1:p.(Ser143Leu)	NC_000017.10:g.4495684C>T	(Likely) benign	1 lab	cd80fd5a29
1:6639163 TAS1R1 TTG>T	1	6639163	6639167	TTG	T	TAS1R1	c.2048_2049del	NM_138697.4	NP_619642.2:p.(Val683AspfsTer24)	NC_000001.10:g.6639166_6639167del	VUS	1 lab	cd8206215f
3:172165423 GHSR T>A	3	172165423	172165423	T	A	GHSR	c.781A>T	NM_198407.2	NP_940799.1:p.(Thr261Ser)	NC_000003.11:g.172165423T>A	VUS	1 lab	cd83371956
22:40708569 TNRC6B A>G	22	40708569	40708569	A	G	TNRC6B	c.4496A>G	NM_001162501.2	NP_001155973.1:p.(Tyr1499Cys)	NC_000022.10:g.40708569A>G	(Likely) benign	1 lab	cd83767ef3
11:82917149 ANKRD42 C>T	11	82917149	82917149	C	T	ANKRD42	c.272C>T	NM_001300975.2	NP_001287904.1:p.(Thr91Met)	NC_000011.9:g.82917149C>T	VUS	1 lab	cd843acec3
10:95518554 LGI1 G>A	10	95518554	95518554	G	A	LGI1	c.253G>A	NM_005097.3	NP_005088.1:p.(Gly85Arg)	NC_000010.10:g.95518554G>A	VUS	1 lab	3324a63bd9
5:118969751 FAM170A C>G	5	118969751	118969751	C	G	FAM170A	c.308C>G	NM_001367956.1	NP_001354885.1:p.(Ser103Cys)	NC_000005.9:g.118969751C>G	(Likely) benign	1 lab	cd853a2b16
19:49994678 RPL13A G>C	19	49994678	49994678	G	C	RPL13A	c.403-4G>C	NM_012423.4	NP_036555.1:p.?	NC_000019.9:g.49994678G>C	(Likely) benign	1 lab	cd85eac2e1
7:44185343 GCK G>C	7	44185343	44185343	G	C	GCK	c.1020-14C>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44185343G>C	(Likely) benign	1 lab	cd864072c2
13:111164327 COL4A2 C>T	13	111164327	111164327	C	T	COL4A2	c.4928C>T	NM_001846.4	NP_001837.2:p.(Pro1643Leu)	NC_000013.10:g.111164327C>T	VUS	1 lab	cd8869f705
15:34145268 RYR3 G>A	15	34145268	34145268	G	A	RYR3	c.13651G>A	NM_001036.6	NP_001027.3:p.(Asp4551Asn)	NC_000015.9:g.34145268G>A	VUS	1 lab	cd894c7635
12:80328685 PPP1R12A C>T	12	80328685	80328685	C	T	PPP1R12A	c.27G>A	NM_001244990.2	NP_001231919.1:p.(Lys9=)	NC_000012.11:g.80328685C>T	(Likely) benign	1 lab	da743b22e4
7:42006084 GLI3 G>A	7	42006084	42006084	G	A	GLI3	c.2587C>T	NM_000168.6	NP_000159.3:p.(Arg863Cys)	NC_000007.13:g.42006084G>A	VUS	1 lab	cd8c08af9a
12:994334 WNK1 C>T	12	994334	994334	C	T	WNK1	c.4364C>T	NM_018979.4	NP_061852.3:p.(Ala1455Val)	NC_000012.11:g.994334C>T	(Likely) benign	1 lab	cd8d6f1430
18:67860579 RTTN G>A	18	67860579	67860579	G	A	RTTN	c.952C>T	NM_173630.4	NP_775901.3:p.(Arg318Cys)	NC_000018.9:g.67860579G>A	VUS	1 lab	cd8db79305
19:17945893 JAK3 C>T	19	17945893	17945893	C	T	JAK3	c.2046G>A	NM_000215.4	NP_000206.2:p.(Glu682=)	NC_000019.9:g.17945893C>T	(Likely) benign	1 lab	cd8e5a6139
1:235505954 GGPS1 T>G	1	235505954	235505954	T	G	GGPS1	c.770T>G	NM_004837.4	NP_004828.1:p.(Phe257Cys)	NC_000001.10:g.235505954T>G	(Likely) pathogenic	1 lab	cd8ecd6db3
6:87968913 ZNF292 C>T	6	87968913	87968913	C	T	ZNF292	c.5566C>T	NM_015021.3	NP_055836.1:p.(Pro1856Ser)	NC_000006.11:g.87968913C>T	VUS	1 lab	cd901a9641
16:53726041 RPGRIP1L G>A	16	53726041	53726041	G	A	RPGRIP1L	c.466C>T	NM_015272.5	NP_056087.2:p.(Arg156Cys)	NC_000016.9:g.53726041G>A	VUS	1 lab	cd9058ec42
3:37042528 MLH1 A>G	3	37042528	37042528	A	G	MLH1	c.290A>G	NM_000249.4	NP_000240.1:p.(Tyr97Cys)	NC_000003.11:g.37042528A>G	(Likely) benign	1 lab	cd918059fc
13:25458114 CPAP C>T	13	25458114	25458114	C	T	CPAP	c.3811G>A	NM_018451.5	NP_060921.3:p.(Val1271Ile)	NC_000013.10:g.25458114C>T	(Likely) benign	1 lab	cd9265b2d0
17:65907057 BPTF CGAT>C	17	65907057	65907062	CGAT	C	BPTF	c.3060_3062del	NM_182641.4	NP_872579.2:p.(Asp1021del)	NC_000017.10:g.65907060_65907062del	VUS	1 lab	cd9312e78c
4:128886230 MFSD8 C>T	4	128886230	128886230	C	T	MFSD8	c.59G>A	NM_001371596.2	NP_001358525.1:p.(Ser20Asn)	NC_000004.11:g.128886230C>T	(Likely) benign	1 lab	cd93b99e50
3:174814909 NAALADL2 G>A	3	174814909	174814909	G	A	NAALADL2	c.373G>A	NM_207015.3	NP_996898.2:p.(Val125Ile)	NC_000003.11:g.174814909G>A	(Likely) benign	1 lab	2d5095f986
15:74489701 STRA6 G>A	15	74489701	74489701	G	A	STRA6	c.244C>T	NM_022369.4	NP_071764.3:p.(Arg82Cys)	NC_000015.9:g.74489701G>A	VUS	1 lab	cd95980895
7:65444802 GUSB G>A	7	65444802	65444802	G	A	GUSB	c.493C>T	NM_000181.4	NP_000172.2:p.(Arg165Trp)	NC_000007.13:g.65444802G>A	VUS	1 lab	cd981aee80
7:98497362 TRRAP A>G	7	98497362	98497362	A	G	TRRAP	c.772A>G	NM_001375524.1	NP_001362453.1:p.(Ile258Val)	NC_000007.13:g.98497362A>G	VUS	1 lab	cd99f32e9c
11:66455093 SPTBN2 T>A	11	66455093	66455093	T	A	SPTBN2	c.6527A>T	NM_006946.4	NP_008877.2:p.(Asn2176Ile)	NC_000011.9:g.66455093T>A	(Likely) benign	1 lab	cd9bc2c1b9
15:90168164 TICRR C>A	15	90168164	90168164	C	A	TICRR	c.4623C>A	NM_152259.4	NP_689472.3:p.(Asp1541Glu)	NC_000015.9:g.90168164C>A	VUS	1 lab	cd9d1bfec1
12:48369230 COL2A1 G>C	12	48369230	48369230	G	C	COL2A1	c.3756C>G	NM_001844.5	NP_001835.3:p.(Asp1252Glu)	NC_000012.11:g.48369230G>C	VUS	1 lab	cd9d401672
20:47645091 ARFGEF2 A>G	20	47645091	47645091	A	G	ARFGEF2	c.4949A>G	NM_006420.3	NP_006411.2:p.(Asn1650Ser)	NC_000020.10:g.47645091A>G	VUS	1 lab	cd9dbac77b
2:220299901 SPEG G>A	2	220299901	220299901	G	A	SPEG	c.202G>A	NM_005876.5	NP_005867.3:p.(Gly68Arg)	NC_000002.11:g.220299901G>A	VUS	1 lab	cd9de3fb68
6:30633375 DHX16 GC>G	6	30633375	30633377	GC	G	DHX16	c.801del	NM_003587.5	NP_003578.2:p.(Gln268ArgfsTer47)	NC_000006.11:g.30633377del	VUS	1 lab	cd9e03f1c7
1:152285369 FLG C>T	1	152285369	152285369	C	T	FLG	c.1993G>A	NM_002016.2	NP_002007.1:p.(Glu665Lys)	NC_000001.10:g.152285369C>T	(Likely) benign	1 lab	cd9e802b64
7:44190687 GCK C>T	7	44190687	44190687	C	T	GCK	c.364-13G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44190687C>T	(Likely) benign	1 lab	cd9ed9ceb0
12:88926232 KITLG C>T	12	88926232	88926232	C	T	KITLG	c.178G>A	NM_000899.5	NP_000890.1:p.(Gly60Arg)	NC_000012.11:g.88926232C>T	VUS	1 lab	cda0134d18
2:25463524 DNMT3A G>A	2	25463524	25463524	G	A	DNMT3A	c.2158C>T	NM_022552.5	NP_072046.2:p.(Arg720Cys)	NC_000002.11:g.25463524G>A	VUS	1 lab	cda09ad84c
9:130430473 STXBP1 G>C	9	130430473	130430473	G	C	STXBP1	c.902+7G>C	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130430473G>C	VUS	1 lab	cda1c82d71
9:138379256 PPP1R26 G>A	9	138379256	138379256	G	A	PPP1R26	c.2900G>A	NM_014811.5	NP_055626.3:p.(Arg967Gln)	NC_000009.11:g.138379256G>A	(Likely) benign	1 lab	cda2649db4
17:1678475 SERPINF1 A>C	17	1678475	1678475	A	C	SERPINF1	c.767A>C	NM_002615.7	NP_002606.3:p.(Asp256Ala)	NC_000017.10:g.1678475A>C	VUS	1 lab	cda30dd760
4:186357483 CFAP96 C>T	4	186357483	186357483	C	T	CFAP96	c.504C>T	NM_001114357.3	NP_001107829.1:p.(Asp168=)	NC_000004.11:g.186357483C>T	VUS	1 lab	cda4628022
16:21289563 CRYM C>A	16	21289563	21289563	C	A	CRYM	c.10G>T	NM_001376256.1	NP_001363185.1:p.(Val4Leu)	NC_000016.9:g.21289563C>A	(Likely) benign	1 lab	cda5d5c9e9
14:79433547 NRXN3 C>T	14	79433547	79433547	C	T	NRXN3	c.2778-4C>T	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79433547C>T	(Likely) benign	1 lab	cda675db40
11:57261522 SLC43A1 G>A	11	57261522	57261522	G	A	SLC43A1	c.815C>T	NM_003627.6	NP_003618.1:p.(Ser272Leu)	NC_000011.9:g.57261522G>A	(Likely) benign	1 lab	cda699571a
7:127251161 PAX4 G>A	7	127251161	127251161	G	A	PAX4	c.1013C>T	NM_001366110.1	NP_001353039.1:p.(Ala338Val)	NC_000007.13:g.127251161G>A	VUS	1 lab	cda6efed63
9:74315561 CEMIP2 G>A	9	74315561	74315561	G	A	CEMIP2	c.3374C>T	NM_013390.3	NP_037522.1:p.(Thr1125Met)	NC_000009.11:g.74315561G>A	(Likely) benign	1 lab	cdbbc1dd37
3:14190421 XPC G>A	3	14190421	14190421	G	A	XPC	c.2143C>T	NM_004628.5	NP_004619.3:p.(Arg715Trp)	NC_000003.11:g.14190421G>A	VUS	1 lab	cda78677bb
12:1017867 WNK1 C>A	12	1017867	1017867	C	A	WNK1	c.7058C>A	NM_018979.4	NP_061852.3:p.(Pro2353His)	NC_000012.11:g.1017867C>A	VUS	1 lab	cdaa4c789f
13:113818851 PROZ G>A	13	113818851	113818851	G	A	PROZ	c.398G>A	NM_003891.3	NP_003882.1:p.(Arg133Gln)	NC_000013.10:g.113818851G>A	VUS	1 lab	cdaa8c4850
12:120195166 CIT C>T	12	120195166	120195166	C	T	CIT	c.2706+9G>A	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120195166C>T	(Likely) benign	1 lab	cdac3ee1a6
5:138643405 MATR3 C>T	5	138643405	138643405	C	T	MATR3	c.301C>T	NM_018834.6	NP_061322.2:p.(His101Tyr)	NC_000005.9:g.138643405C>T	VUS	1 lab	cdacf5e8e2
16:53691372 RPGRIP1L T>C	16	53691372	53691372	T	C	RPGRIP1L	c.1574A>G	NM_015272.5	NP_056087.2:p.(Asp525Gly)	NC_000016.9:g.53691372T>C	VUS	1 lab	cdb11c889b
3:126726712 PLXNA1 G>A	3	126726712	126726712	G	A	PLXNA1	c.2068G>A	NM_032242.4	NP_115618.3:p.(Val690Met)	NC_000003.11:g.126726712G>A	VUS	1 lab	cdb462e71c
9:14812812 FREM1 G>A	9	14812812	14812812	G	A	FREM1	c.2891C>T	NM_001379081.2	NP_001366010.1:p.(Thr964Ile)	NC_000009.11:g.14812812G>A	VUS	1 lab	cdb4fc9ed9
8:110457292 PKHD1L1 C>T	8	110457292	110457292	C	T	PKHD1L1	c.5194C>T	NM_177531.6	NP_803875.2:p.(Pro1732Ser)	NC_000008.10:g.110457292C>T	VUS	1 lab	cdb51029c5
3:69027513 EOGT G>A	3	69027513	69027513	G	A	EOGT	c.1408C>T	NM_001278689.2	NP_001265618.1:p.(Arg470Trp)	NC_000003.11:g.69027513G>A	VUS	1 lab	cdb551253b
16:75146373 LDHD C>T	16	75146373	75146373	C	T	LDHD	c.1336G>A	NM_194436.3	NP_919417.1:p.(Gly446Arg)	NC_000016.9:g.75146373C>T	VUS	1 lab	cdb6ce3c4c
11:16117576 SOX6 C>T	11	16117576	16117576	C	T	SOX6	c.1067G>A	NM_001367873.1	NP_001354802.1:p.(Gly356Asp)	NC_000011.9:g.16117576C>T	VUS	1 lab	cdb700a048
15:52689560 MYO5A G>T	15	52689560	52689560	G	T	MYO5A	c.1157C>A	NM_001382347.1	NP_001369276.1:p.(Thr386Lys)	NC_000015.9:g.52689560G>T	VUS	1 lab	cdb7dad951
X:129159082 BCORL1 G>C	X	129159082	129159082	G	C	BCORL1	c.3806G>C	NM_001379451.1	NP_001366380.1:p.(Arg1269Thr)	NC_000023.10:g.129159082G>C	(Likely) benign	1 lab	cdb7fc63bd
X:100079152 CSTF2 G>T	X	100079152	100079152	G	T	CSTF2	c.608G>T	NM_001325.3	NP_001316.1:p.(Gly203Val)	NC_000023.10:g.100079152G>T	VUS	1 lab	cdbbc0b9c7
3:13611894 FBLN2 T>TCTGGGC	3	13611894	13611904	T	TCTGGGC	FBLN2	c.44_49dup	NM_001004019.2	NP_001004019.1:p.(Gly15_Leu16dup)	NC_000003.11:g.13611899_13611904dup	VUS	1 lab	cdbc18c604
6:80816489 BCKDHB C>T	6	80816489	80816489	C	T	BCKDHB	c.79C>T	NM_183050.4	NP_898871.1:p.(Pro27Ser)	NC_000006.11:g.80816489C>T	VUS	1 lab	cdbc2cfe6d
2:179400295 TTN C>T	2	179400295	179400295	C	T	TTN	c.101047G>A	NM_001267550.2	NP_001254479.2:p.(Glu33683Lys)	NC_000002.11:g.179400295C>T	VUS	1 lab	cdbd2ecb3f
17:79991386 RAC3 GCGA>G	17	79991386	79991393	GCGA	G	RAC3	c.364_366del	NM_005052.3	NP_005043.1:p.(Asp122del)	NC_000017.10:g.79991391_79991393del	VUS	1 lab	cdc0244758
6:168999680 SMOC2 A>G	6	168999680	168999680	A	G	SMOC2	c.820A>G	NM_001166412.2	NP_001159884.1:p.(Thr274Ala)	NC_000006.11:g.168999680A>G	VUS	1 lab	cdc07eeba0
7:33976935 BMPER C>T	7	33976935	33976935	C	T	BMPER	c.254C>T	NM_001365308.1	NP_001352237.1:p.(Pro85Leu)	NC_000007.13:g.33976935C>T	(Likely) benign	1 lab	cdc1e0a851
16:88870249 CDT1 C>A	16	88870249	88870249	C	A	CDT1	c.10C>A	NM_030928.4	NP_112190.2:p.(Arg4Ser)	NC_000016.9:g.88870249C>A	VUS	1 lab	cdc68b0b99
5:149433715 CSF1R TCTC>T	5	149433715	149433725	TCTC	T	CSF1R	c.2833_2835del	NM_001288705.3	NP_001275634.1:p.(Glu945del)	NC_000005.9:g.149433723_149433725del	VUS	1 lab	cdc6c9ee6f
4:85605201 WDFY3 C>A	4	85605201	85605201	C	A	WDFY3	c.9621G>T	NM_014991.6	NP_055806.2:p.(Thr3207=)	NC_000004.11:g.85605201C>A	VUS	1 lab	cded7db842
6:31736976 VWA7 G>GGTAC	6	31736976	31736977	G	GGTAC	VWA7	c.1321_1322insGTAC	NM_025258.3	NP_079534.2:p.(Thr441SerfsTer7)	NC_000006.11:g.31736976_31736977insGTAC	VUS	1 lab	cdc75a0a6e
9:35906438 HRCT1 C>T	9	35906438	35906438	C	T	HRCT1	c.154C>T	NM_001039792.2	NP_001034881.1:p.(Arg52Ter)	NC_000009.11:g.35906438C>T	(Likely) benign	1 lab	cdcb3f5e29
1:22173847 HSPG2 C>T	1	22173847	22173847	C	T	HSPG2	c.8164G>A	NM_005529.7	NP_005520.4:p.(Ala2722Thr)	NC_000001.10:g.22173847C>T	(Likely) benign	1 lab	cdcdf6a457
14:24976574 CMA1 T>C	14	24976574	24976574	T	C	CMA1	c.197A>G	NM_001836.5	NP_001827.1:p.(His66Arg)	NC_000014.8:g.24976574T>C	(Likely) benign	1 lab	cdceda406e
1:225586971 DNAH14 A>T	1	225586971	225586971	A	T	DNAH14	c.13854A>T	NM_001367479.1	NP_001354408.1:p.(Ter4618TyrextTer?)	NC_000001.10:g.225586971A>T	(Likely) benign	1 lab	cdd2e2811f
4:54440133 LNX1 G>C	4	54440133	54440133	G	C	LNX1	c.37C>G	NM_001126328.3	NP_001119800.1:p.(Leu13Val)	NC_000004.11:g.54440133G>C	(Likely) benign	1 lab	cdd466e4bd
7:148506160 EZH2 A>G	7	148506160	148506160	A	G	EZH2	c.2195+3T>C	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148506160A>G	VUS	1 lab	cdd49d66e0
15:74472522 STRA6 C>T	15	74472522	74472522	C	T	STRA6	c.1903G>A	NM_022369.4	NP_071764.3:p.(Gly635Ser)	NC_000015.9:g.74472522C>T	(Likely) benign	1 lab	cdd49f0916
1:1271578 DVL1 G>A	1	1271578	1271578	G	A	DVL1	c.1957C>T	NM_004421.3	NP_004412.2:p.(Gln653Ter)	NC_000001.10:g.1271578G>A	VUS	1 lab	2b65bf4b89
6:157431596 ARID1B T>G	6	157431596	157431596	T	G	ARID1B	c.2492-10T>G	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157431596T>G	VUS	1 lab	cdd724f260
10:61830270 ANK3 G>A	10	61830270	61830270	G	A	ANK3	c.10369C>T	NM_020987.5	NP_066267.2:p.(Arg3457Cys)	NC_000010.10:g.61830270G>A	VUS	1 lab	cdd7283448
X:24329890 SUPT20HL2 G>C	X	24329890	24329890	G	C	SUPT20HL2	c.1543C>G	NM_001136233.3	NP_001129705.3:p.(Pro515Ala)	NC_000023.10:g.24329890G>C	(Likely) benign	1 lab	cdd753fb01
2:26461966 HADHA T>G	2	26461966	26461966	T	G	HADHA	c.109+4A>C	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26461966T>G	(Likely) benign	1 lab	cdd7b0cb80
4:73176769 ADAMTS3 C>T	4	73176769	73176769	C	T	ADAMTS3	c.2051G>A	NM_014243.3	NP_055058.2:p.(Cys684Tyr)	NC_000004.11:g.73176769C>T	VUS	1 lab	cddb9dfbb8
9:130507361 SH2D3C C>T	9	130507361	130507361	C	T	SH2D3C	c.1282G>A	NM_170600.3	NP_733745.1:p.(Ala428Thr)	NC_000009.11:g.130507361C>T	(Likely) benign	1 lab	cddc4f6d07
9:15779008 CCDC171 C>G	9	15779008	15779008	C	G	CCDC171	c.2941C>G	NM_173550.4	NP_775821.2:p.(Gln981Glu)	NC_000009.11:g.15779008C>G	VUS	1 lab	cddd67d19c
8:17924737 ASAH1 A>G	8	17924737	17924737	A	G	ASAH1	c.374T>C	NM_177924.5	NP_808592.2:p.(Ile125Thr)	NC_000008.10:g.17924737A>G	VUS	1 lab	ce9daaba8a
1:229601276 NUP133 A>C	1	229601276	229601276	A	C	NUP133	c.2200-10T>G	NM_018230.3	NP_060700.2:p.?	NC_000001.10:g.229601276A>C	(Likely) benign	1 lab	cddd8cd5e2
14:29237857 FOXG1 C>A	14	29237857	29237857	C	A	FOXG1	c.1372C>A	NM_005249.5	NP_005240.3:p.(Pro458Thr)	NC_000014.8:g.29237857C>A	(Likely) benign	1 lab	2b65d0dc19
X:3242482 MXRA5 G>T	X	3242482	3242482	G	T	MXRA5	c.1244C>A	NM_015419.4	NP_056234.2:p.(Ala415Asp)	NC_000023.10:g.3242482G>T	(Likely) benign	1 lab	cdde2443c5
7:42085067 GLI3 G>T	7	42085067	42085067	G	T	GLI3	c.742C>A	NM_000168.6	NP_000159.3:p.(Arg248Ser)	NC_000007.13:g.42085067G>T	VUS	1 lab	cdde7200c4
2:152473986 NEB C>CAAAAA	2	152473986	152474002	C	CAAAAA	NEB	c.11077-9_11077-5dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473998_152474002dup	(Likely) benign	1 lab	cdde875398
7:143092411 EPHA1 C>T	7	143092411	143092411	C	T	EPHA1	c.2083+1G>A	NM_005232.5	NP_005223.4:p.?	NC_000007.13:g.143092411C>T	VUS	1 lab	cdde9b86c7
15:41227096 DLL4 G>T	15	41227096	41227096	G	T	DLL4	c.1021G>T	NM_019074.4	NP_061947.1:p.(Asp341Tyr)	NC_000015.9:g.41227096G>T	(Likely) benign	1 lab	cde1331bfd
15:31862403 OTUD7A G>A	15	31862403	31862403	G	A	OTUD7A	c.152-3C>T	NM_001382637.1	NP_001369566.1:p.?	NC_000015.9:g.31862403G>A	(Likely) benign	1 lab	cde1e144ac
2:179474506 TTN C>T	2	179474506	179474506	C	T	TTN	c.51644G>A	NM_001267550.2	NP_001254479.2:p.(Gly17215Glu)	NC_000002.11:g.179474506C>T	VUS	1 lab	cde20cb50f
X:119668222 CUL4B GA>G	X	119668222	119668232	GA	G	CUL4B	c.2266+113del	NM_001079872.2	NP_001073341.1:p.?	NC_000023.10:g.119668232del	(Likely) benign	1 lab	2d50f7f08c
6:117248363 RFX6 C>T	6	117248363	117248363	C	T	RFX6	c.2059C>T	NM_173560.4	NP_775831.2:p.(Pro687Ser)	NC_000006.11:g.117248363C>T	(Likely) benign	1 lab	cde3a08c75
19:47858603 DHX34 T>G	19	47858603	47858603	T	G	DHX34	c.1013T>G	NM_014681.6	NP_055496.2:p.(Ile338Ser)	NC_000019.9:g.47858603T>G	VUS	1 lab	cde430c441
14:95596487 DICER1 T>C	14	95596487	95596487	T	C	DICER1	c.481A>G	NM_177438.3	NP_803187.1:p.(Asn161Asp)	NC_000014.8:g.95596487T>C	(Likely) benign	1 lab	cde49f9e0d
18:55998057 NEDD4L C>T	18	55998057	55998057	C	T	NEDD4L	c.901C>T	NM_001144967.3	NP_001138439.1:p.(Arg301Trp)	NC_000018.9:g.55998057C>T	VUS	1 lab	cde56969ab
19:11306494 KANK2 C>A	19	11306494	11306494	C	A	KANK2	c.-276G>T	NM_001136191.3	NP_001129663.1:p.?	NC_000019.9:g.11306494C>A	(Likely) benign	1 lab	cde5ced609
1:46657979 POMGNT1 C>A	1	46657979	46657979	C	A	POMGNT1	c.1413+1G>T	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46657979C>A	(Likely) pathogenic	1 lab	2b6714cffb
19:45681351 TRAPPC6A C>T	19	45681351	45681351	C	T	TRAPPC6A	c.84+42G>A	NM_001270891.2	NP_001257820.1:p.?	NC_000019.9:g.45681351C>T	VUS	1 lab	cde5f79221
15:28467238 HERC2 A>G	15	28467238	28467238	A	G	HERC2	c.5588T>C	NM_004667.6	NP_004658.3:p.(Leu1863Pro)	NC_000015.9:g.28467238A>G	VUS	1 lab	cde6331701
8:145738647 RECQL4 C>T	8	145738647	145738647	C	T	RECQL4	c.2417G>A	NM_004260.4	NP_004251.4:p.(Gly806Glu)	NC_000008.10:g.145738647C>T	VUS	1 lab	cde8dc99eb
7:150932589 CHPF2 G>A	7	150932589	150932589	G	A	CHPF2	c.719G>A	NM_019015.3	NP_061888.1:p.(Arg240Gln)	NC_000007.13:g.150932589G>A	VUS	1 lab	cde8eb13b4
11:61111319 TKFC T>C	11	61111319	61111319	T	C	TKFC	c.983-9T>C	NM_015533.4	NP_056348.2:p.?	NC_000011.9:g.61111319T>C	(Likely) benign	1 lab	cde915efe5
15:60884614 RORA C>A	15	60884614	60884614	C	A	RORA	c.197-60564G>T	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60884614C>A	(Likely) benign	1 lab	cde967271c
2:132021967 POTEE A>G	2	132021967	132021967	A	G	POTEE	c.2939A>G	NM_001083538.3	NP_001077007.1:p.(Asn980Ser)	NC_000002.11:g.132021967A>G	VUS	1 lab	cdea5b6e7d
6:102337507 GRIK2 G>T	6	102337507	102337507	G	T	GRIK2	c.1525-8G>T	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102337507G>T	(Likely) benign	1 lab	cdf1768b54
19:5131166 KDM4B G>T	19	5131166	5131166	G	T	KDM4B	c.1395G>T	NM_015015.3	NP_055830.1:p.(Gln465His)	NC_000019.9:g.5131166G>T	(Likely) benign	1 lab	cdf1c3f212
X:153032688 PLXNB3 C>T	X	153032688	153032688	C	T	PLXNB3	c.406C>T	NM_005393.3	NP_005384.2:p.(Arg136Trp)	NC_000023.10:g.153032688C>T	(Likely) benign	1 lab	cdf3312719
8:41791374 KAT6A G>A	8	41791374	41791374	G	A	KAT6A	c.4364C>T	NM_006766.5	NP_006757.2:p.(Thr1455Ile)	NC_000008.10:g.41791374G>A	VUS	1 lab	cdf40002c8
11:47470377 RAPSN C>T	11	47470377	47470377	C	T	RAPSN	c.140G>A	NM_005055.5	NP_005046.2:p.(Gly47Asp)	NC_000011.9:g.47470377C>T	VUS	1 lab	cdf407808d
X:84363904 SATL1 G>A	X	84363904	84363904	G	A	SATL1	c.71C>T	NM_001367857.2	NP_001354786.1:p.(Thr24Ile)	NC_000023.10:g.84363904G>A	VUS	1 lab	cdf91642cb
19:15292429 NOTCH3 C>G	19	15292429	15292429	C	G	NOTCH3	c.2750G>C	NM_000435.3	NP_000426.2:p.(Gly917Ala)	NC_000019.9:g.15292429C>G	VUS	1 lab	cdf9aa6506
1:1463226 ATAD3A G>A	1	1463226	1463226	G	A	ATAD3A	c.1489G>A	NM_001170535.3	NP_001164006.1:p.(Ala497Thr)	NC_000001.10:g.1463226G>A	VUS	1 lab	cdf9fde2bf
10:89312046 MINPP1 T>C	10	89312046	89312046	T	C	MINPP1	c.1275T>C	NM_004897.5	NP_004888.2:p.(Ala425=)	NC_000010.10:g.89312046T>C	(Likely) benign	1 lab	cdfaede535
9:125759569 RABGAP1 C>T	9	125759569	125759569	C	T	RABGAP1	c.1133C>T	NM_012197.4	NP_036329.3:p.(Ser378Leu)	NC_000009.11:g.125759569C>T	VUS	1 lab	cdfb30115e
17:1678462 SERPINF1 C>T	17	1678462	1678462	C	T	SERPINF1	c.754C>T	NM_002615.7	NP_002606.3:p.(Arg252Cys)	NC_000017.10:g.1678462C>T	VUS	1 lab	cdfb533fce
2:179456539 TTN G>A	2	179456539	179456539	G	A	TTN	c.60007C>T	NM_001267550.2	NP_001254479.2:p.(Arg20003Cys)	NC_000002.11:g.179456539G>A	VUS	1 lab	cdfb5a2d3a
5:80168918 MSH3 C>T	5	80168918	80168918	C	T	MSH3	c.3131-17C>T	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80168918C>T	VUS	1 lab	cdfb9b0b2d
14:65230358 SPTB C>T	14	65230358	65230358	C	T	SPTB	c.6345+3086G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65230358C>T	(Likely) benign	1 lab	2d57ba868e
9:140063764 LRRC26 G>A	9	140063764	140063764	G	A	LRRC26	c.632C>T	NM_001013653.3	NP_001013675.1:p.(Pro211Leu)	NC_000009.11:g.140063764G>A	VUS	1 lab	cdfc44eef2
8:144999090 PLEC C>T	8	144999090	144999090	C	T	PLEC	c.5007G>A	NM_201384.3	NP_958786.1:p.(Ala1669=)	NC_000008.10:g.144999090C>T	(Likely) benign	1 lab	cdfc4606af
3:33099665 GLB1 GAACC>G	3	33099665	33099670	GAACC	G	GLB1	c.645_648del	NM_000404.4	NP_000395.3:p.(Val216CysfsTer12)	NC_000003.11:g.33099667_33099670del	VUS	1 lab	cdfcb39555
4:74453634 RASSF6 T>A	4	74453634	74453634	T	A	RASSF6	c.305A>T	NM_177532.5	NP_803876.1:p.(Glu102Val)	NC_000004.11:g.74453634T>A	VUS	1 lab	cdfd4d01ad
9:139089291 LHX3 C>T	9	139089291	139089291	C	T	LHX3	c.1074G>A	NM_178138.6	NP_835258.1:p.(Met358Ile)	NC_000009.11:g.139089291C>T	VUS	1 lab	cdfdb6e461
15:99465624 IGF1R G>A	15	99465624	99465624	G	A	IGF1R	c.2449G>A	NM_000875.5	NP_000866.1:p.(Ala817Thr)	NC_000015.9:g.99465624G>A	(Likely) benign	1 lab	cdfdd92b6b
X:3241387 MXRA5 G>A	X	3241387	3241387	G	A	MXRA5	c.2339C>T	NM_015419.4	NP_056234.2:p.(Pro780Leu)	NC_000023.10:g.3241387G>A	(Likely) benign	1 lab	cdfeb625b2
X:154157225 F8 T>A	X	154157225	154157225	T	A	F8	c.4840A>T	NM_000132.3	NP_000123.1:p.(Lys1614Ter)	NC_000023.10:g.154157225T>A	(Likely) pathogenic	1 lab	2d589e6c4a
15:91452578 MAN2A2 A>T	15	91452578	91452578	A	T	MAN2A2	c.1218A>T	NM_006122.4	NP_006113.2:p.(Gln406His)	NC_000015.9:g.91452578A>T	VUS	1 lab	ce020302c1
6:32036896 TNXB C>T	6	32036896	32036896	C	T	TNXB	c.5605G>A	NM_001365276.2	NP_001352205.1:p.(Glu1869Lys)	NC_000006.11:g.32036896C>T	(Likely) benign	1 lab	ce0225fcb5
7:44185268 GCK T>A	7	44185268	44185268	T	A	GCK	c.1081A>T	NM_000162.5	NP_000153.1:p.(Thr361Ser)	NC_000007.13:g.44185268T>A	VUS	1 lab	ce0323fdb3
2:233399868 CHRND G>A	2	233399868	233399868	G	A	CHRND	c.1400G>A	NM_000751.3	NP_000742.1:p.(Arg467His)	NC_000002.11:g.233399868G>A	(Likely) benign	1 lab	ce04161347
18:10691299 PIEZO2 A>G	18	10691299	10691299	A	G	PIEZO2	c.7273T>C	NM_001378183.1	NP_001365112.1:p.(Cys2425Arg)	NC_000018.9:g.10691299A>G	VUS	1 lab	ce042b957d
6:102124569 GRIK2 C>T	6	102124569	102124569	C	T	GRIK2	c.613C>T	NM_021956.5	NP_068775.1:p.(Pro205Ser)	NC_000006.11:g.102124569C>T	VUS	1 lab	ce078db02d
1:40768461 COL9A2 C>T	1	40768461	40768461	C	T	COL9A2	c.1624G>A	NM_001852.4	NP_001843.1:p.(Val542Met)	NC_000001.10:g.40768461C>T	VUS	1 lab	ce0a820772
1:237774218 RYR2 C>T	1	237774218	237774218	C	T	RYR2	c.4840C>T	NM_001035.3	NP_001026.2:p.(Arg1614Cys)	NC_000001.10:g.237774218C>T	VUS	1 lab	ce1034d1f2
13:21729290 SKA3 C>CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGG	13	21729290	21729291	C	CAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGG	SKA3	c.1239-2_1239-1insCCCAGTAAAAGGTTCCTTAAACATGGACAGAACATCCGAGATGTCAGCAACAAAGAAAACT	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729290_21729291insAGTTTTCTTTGTTGCTGACATCTCGGATGTTCTGTCCATGTTTAAGGAACCTTTTACTGGG	(Likely) benign	1 lab	ce10a8c983
3:128200657 GATA2 C>T	3	128200657	128200657	C	T	GATA2	c.1143+5G>A	NM_032638.5	NP_116027.2:p.?	NC_000003.11:g.128200657C>T	(Likely) pathogenic	1 lab	ce11eb7430
X:7811573 VCX G>A	X	7811573	7811573	G	A	VCX	c.137G>A	NM_001393662.1	NP_001380591.1:p.(Arg46His)	NC_000023.10:g.7811573G>A	(Likely) benign	1 lab	ce11fa82e2
11:118948660 VPS11 G>A	11	118948660	118948660	G	A	VPS11	c.1645G>A	NM_021729.6	NP_068375.3:p.(Gly549Ser)	NC_000011.9:g.118948660G>A	VUS	1 lab	ce12d0635c
X:595546 SHOX C>G	X	595546	595546	C	G	SHOX	c.471C>G	NM_000451.3	NP_000442.1:p.(Ser157=)	NC_000023.10:g.595546C>G	(Likely) benign	1 lab	ce140063a1
X:75649356 MAGEE1 C>T	X	75649356	75649356	C	T	MAGEE1	c.1033C>T	NM_020932.3	NP_065983.1:p.(Pro345Ser)	NC_000023.10:g.75649356C>T	(Likely) benign	1 lab	ce1435e17c
14:39534204 SEC23A A>T	14	39534204	39534204	A	T	SEC23A	c.1228-7T>A	NM_006364.4	NP_006355.2:p.?	NC_000014.8:g.39534204A>T	(Likely) benign	1 lab	ce1517f128
1:103477989 COL11A1 T>G	1	103477989	103477989	T	G	COL11A1	c.1609A>C	NM_001854.4	NP_001845.3:p.(Thr537Pro)	NC_000001.10:g.103477989T>G	VUS	1 lab	ce1565419d
8:144801230 MAPK15 T>A	8	144801230	144801230	T	A	MAPK15	c.485T>A	NM_139021.3	NP_620590.2:p.(Leu162Gln)	NC_000008.10:g.144801230T>A	VUS	1 lab	ce15855da9
6:21595466 SOX4 C>T	6	21595466	21595466	C	T	SOX4	c.701C>T	NM_003107.3	NP_003098.1:p.(Ala234Val)	NC_000006.11:g.21595466C>T	(Likely) benign	1 lab	ce158eab57
11:17496461 ABCC8 C>T	11	17496461	17496461	C	T	ABCC8	c.262G>A	NM_000352.6	NP_000343.2:p.(Glu88Lys)	NC_000011.9:g.17496461C>T	(Likely) benign	1 lab	ce173a388d
1:24742790 NIPAL3 G>T	1	24742790	24742790	G	T	NIPAL3	c.-258+396G>T	NM_020448.5	NP_065181.1:p.?	NC_000001.10:g.24742790G>T	(Likely) benign	1 lab	ce178d26b8
4:1657027 FAM53A G>A	4	1657027	1657027	G	A	FAM53A	c.560C>T	NM_001174070.3	NP_001167541.1:p.(Pro187Leu)	NC_000004.11:g.1657027G>A	VUS	1 lab	ce17e10e92
11:44956503 TP53I11 G>A	11	44956503	44956503	G	A	TP53I11	c.502C>T	NM_006034.5	NP_006025.2:p.(Arg168Cys)	NC_000011.9:g.44956503G>A	(Likely) benign	1 lab	ce19206de6
16:89404095 ANKRD11 G>A	16	89404095	89404095	G	A	ANKRD11	c.-59-20609C>T	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89404095G>A	(Likely) benign	1 lab	ce1a02f87e
X:151138870 GABRE C>T	X	151138870	151138870	C	T	GABRE	c.61G>A	NM_004961.4	NP_004952.2:p.(Glu21Lys)	NC_000023.10:g.151138870C>T	(Likely) benign	1 lab	ce1bbdc75d
16:2287496 DNASE1L2 T>C	16	2287496	2287496	T	C	DNASE1L2	c.437T>C	NM_001374.3	NP_001365.1:p.(Leu146Pro)	NC_000016.9:g.2287496T>C	(Likely) benign	1 lab	ce1c97a9bb
13:101890264 NALCN T>A	13	101890264	101890264	T	A	NALCN	c.1276A>T	NM_052867.4	NP_443099.1:p.(Thr426Ser)	NC_000013.10:g.101890264T>A	(Likely) benign	1 lab	ce1e47fba4
3:110852652 NECTIN3 C>G	3	110852652	110852652	C	G	NECTIN3	c.1240C>G	NM_015480.3	NP_056295.1:p.(Leu414Val)	NC_000003.11:g.110852652C>G	VUS	1 lab	ce1e7c1cbd
X:37028629 FAM47C G>C	X	37028629	37028629	G	C	FAM47C	c.2146G>C	NM_001013736.3	NP_001013758.1:p.(Ala716Pro)	NC_000023.10:g.37028629G>C	(Likely) benign	1 lab	ce1eac93a4
3:195507324 MUC4 G>C	3	195507324	195507324	G	C	MUC4	c.11127C>G	NM_018406.7	NP_060876.5:p.(His3709Gln)	NC_000003.11:g.195507324G>C	(Likely) benign	1 lab	ce1ed11b78
2:136664975 DARS1 A>G	2	136664975	136664975	A	G	DARS1	c.1417T>C	NM_001349.4	NP_001340.2:p.(Leu473=)	NC_000002.11:g.136664975A>G	(Likely) benign	1 lab	ce1efca4cd
X:70148444 SLC7A3 G>A	X	70148444	70148444	G	A	SLC7A3	c.569C>T	NM_032803.6	NP_116192.4:p.(Thr190Ile)	NC_000023.10:g.70148444G>A	(Likely) benign	1 lab	ce1f3a153a
14:59113537 DACT1 C>G	14	59113537	59113537	C	G	DACT1	c.2085C>G	NM_001079520.2	NP_001072988.1:p.(Ser695=)	NC_000014.8:g.59113537C>G	(Likely) benign	1 lab	ce1ffd209b
16:54145796 FTO T>A	16	54145796	54145796	T	A	FTO	c.1487T>A	NM_001080432.3	NP_001073901.1:p.(Leu496His)	NC_000016.9:g.54145796T>A	VUS	1 lab	ce217b4dc5
3:133191385 BFSP2 C>A	3	133191385	133191385	C	A	BFSP2	c.1220C>A	NM_003571.4	NP_003562.1:p.(Ala407Asp)	NC_000003.11:g.133191385C>A	(Likely) benign	1 lab	ce21db05c4
4:1808063 FGFR3 C>T	4	1808063	1808063	C	T	FGFR3	c.2030+9C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808063C>T	(Likely) benign	1 lab	ce234a45f4
22:42607750 TCF20 A>G	22	42607750	42607750	A	G	TCF20	c.3562T>C	NM_001378418.1	NP_001365347.1:p.(Cys1188Arg)	NC_000022.10:g.42607750A>G	(Likely) benign	1 lab	ce2426a60d
13:28498471 PDX1 A>G	13	28498471	28498471	A	G	PDX1	c.485A>G	NM_000209.4	NP_000200.1:p.(Glu162Gly)	NC_000013.10:g.28498471A>G	VUS	1 lab	ce248b4355
20:43034799 HNF4A G>A	20	43034799	43034799	G	A	HNF4A	c.217G>A	NM_000457.5	NP_000448.3:p.(Gly73Ser)	NC_000020.10:g.43034799G>A	VUS	1 lab	ce263d9927
13:111154146 COL4A2 T>C	13	111154146	111154146	T	C	COL4A2	c.3877+15T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111154146T>C	(Likely) benign	1 lab	ce26ad0a8d
11:111963916 SDHD A>G	11	111963916	111963916	A	G	SDHD	c.315-1613A>G	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111963916A>G	VUS	1 lab	ce28e33ac1
5:78135254 ARSB A>G	5	78135254	78135254	A	G	ARSB	c.1143-5T>C	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78135254A>G	(Likely) benign	1 lab	ce2c968656
22:41895746 ACO2 G>A	22	41895746	41895746	G	A	ACO2	c.53G>A	NM_001098.3	NP_001089.1:p.(Arg18Gln)	NC_000022.10:g.41895746G>A	VUS	1 lab	ce2d1ae989
X:108652306 GUCY2F C>T	X	108652306	108652306	C	T	GUCY2F	c.1883G>A	NM_001522.3	NP_001513.2:p.(Arg628Gln)	NC_000023.10:g.108652306C>T	(Likely) benign	1 lab	ce2dc50d8d
X:153599531 FLNA A>G	X	153599531	153599531	A	G	FLNA	c.83T>C	NM_001110556.2	NP_001104026.1:p.(Met28Thr)	NC_000023.10:g.153599531A>G	VUS	1 lab	ce2e277d09
10:99132509 RRP12 T>C	10	99132509	99132509	T	C	RRP12	c.2233A>G	NM_015179.4	NP_055994.2:p.(Ser745Gly)	NC_000010.10:g.99132509T>C	(Likely) benign	1 lab	ce2e6f30e6
19:1105487 GPX4 C>G	19	1105487	1105487	C	G	GPX4	c.302C>G	NM_002085.5	NP_002076.2:p.(Pro101Arg)	NC_000019.9:g.1105487C>G	(Likely) pathogenic	1 lab	ce2e789922
6:129588232 LAMA2 A>G	6	129588232	129588232	A	G	LAMA2	c.2209-19A>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129588232A>G	(Likely) benign	1 lab	ce301a33af
11:64502594 RASGRP2 C>T	11	64502594	64502594	C	T	RASGRP2	c.1402G>A	NM_001098671.2	NP_001092141.1:p.(Asp468Asn)	NC_000011.9:g.64502594C>T	VUS	1 lab	ce303a5bb4
19:40411781 FCGBP C>T	19	40411781	40411781	C	T	FCGBP	c.3847G>A	NM_003890.3	NP_003881.2:p.(Gly1283Ser)	NC_000019.9:g.40411781C>T	(Likely) benign	1 lab	ce31783a5e
19:17886795 FCHO1 C>T	19	17886795	17886795	C	T	FCHO1	c.1007C>T	NM_015122.3	NP_055937.1:p.(Thr336Met)	NC_000019.9:g.17886795C>T	VUS	1 lab	ce3361e53d
12:111356958 MYL2 A>AG	12	111356958	111356959	A	AG	MYL2	c.42dup	NM_000432.4	NP_000423.2:p.(Ser15LeufsTer16)	NC_000012.11:g.111356959dup	VUS	1 lab	ce352fc4a1
5:60827526 ZSWIM6 G>T	5	60827526	60827526	G	T	ZSWIM6	c.2219G>T	NM_020928.2	NP_065979.1:p.(Arg740Leu)	NC_000005.9:g.60827526G>T	VUS	1 lab	ce357993e6
14:100594903 EVL G>A	14	100594903	100594903	G	A	EVL	c.535G>A	NM_016337.3	NP_057421.1:p.(Val179Ile)	NC_000014.8:g.100594903G>A	(Likely) benign	1 lab	ce37c7ea23
5:98221275 CHD1 T>C	5	98221275	98221275	T	C	CHD1	c.2568+7A>G	NM_001270.4	NP_001261.2:p.?	NC_000005.9:g.98221275T>C	(Likely) benign	1 lab	ce38c1811a
14:65268950 SPTB G>A	14	65268950	65268950	G	A	SPTB	c.560C>T	NM_001355436.2	NP_001342365.1:p.(Thr187Met)	NC_000014.8:g.65268950G>A	VUS	1 lab	ce395f9d75
11:22248927 ANO5 G>A	11	22248927	22248927	G	A	ANO5	c.443G>A	NM_213599.3	NP_998764.1:p.(Gly148Glu)	NC_000011.9:g.22248927G>A	(Likely) benign	1 lab	ce39853019
9:139413135 NOTCH1 A>G	9	139413135	139413135	A	G	NOTCH1	c.1007T>C	NM_017617.5	NP_060087.3:p.(Ile336Thr)	NC_000009.11:g.139413135A>G	VUS	1 lab	ce3a952199
6:42626432 UBR2 G>A	6	42626432	42626432	G	A	UBR2	c.3112G>A	NM_001363705.2	NP_001350634.1:p.(Ala1038Thr)	NC_000006.11:g.42626432G>A	VUS	1 lab	ce3b2fc100
21:44836887 SIK1 G>A	21	44836887	44836887	G	A	SIK1	c.2087C>T	NM_173354.5	NP_775490.2:p.(Pro696Leu)	NC_000021.8:g.44836887G>A	(Likely) benign	1 lab	ce3b49fe44
19:4930797 UHRF1 A>G	19	4930797	4930797	A	G	UHRF1	c.478A>G	NM_001048201.3	NP_001041666.1:p.(Thr160Ala)	NC_000019.9:g.4930797A>G	VUS	1 lab	ce3bd0de9a
17:29528490 NF1 G>A	17	29528490	29528490	G	A	NF1	c.1247G>A	NM_001042492.3	NP_001035957.1:p.(Arg416Gln)	NC_000017.10:g.29528490G>A	VUS	1 lab	ce3c22d354
20:49510288 ADNP C>G	20	49510288	49510288	C	G	ADNP	c.963G>C	NM_001282531.3	NP_001269460.1:p.(Met321Ile)	NC_000020.10:g.49510288C>G	(Likely) benign	1 lab	ce3c57cb47
8:105478895 DPYS T>A	8	105478895	105478895	T	A	DPYS	c.254A>T	NM_001385.3	NP_001376.1:p.(Gln85Leu)	NC_000008.10:g.105478895T>A	VUS	1 lab	ce3c9d4549
14:77753157 POMT2 C>T	14	77753157	77753157	C	T	POMT2	c.1262G>A	NM_013382.7	NP_037514.2:p.(Arg421Gln)	NC_000014.8:g.77753157C>T	(Likely) benign	1 lab	ce3d580999
5:14474112 TRIO G>A	5	14474112	14474112	G	A	TRIO	c.5989G>A	NM_007118.4	NP_009049.2:p.(Ala1997Thr)	NC_000005.9:g.14474112G>A	(Likely) benign	1 lab	ce3f601fed
16:2169168 PKD1 CTTG>C	16	2169168	2169177	CTTG	C	PKD1	c.303_305del	NM_001009944.3	NP_001009944.3:p.(Asn101del)	NC_000016.9:g.2169175_2169177del	(Likely) pathogenic	1 lab	ce401241e3
11:20652292 SLC6A5 G>A	11	20652292	20652292	G	A	SLC6A5	c.1555G>A	NM_004211.5	NP_004202.4:p.(Val519Ile)	NC_000011.9:g.20652292G>A	VUS	1 lab	ce405fa6cc
10:43615004 RET C>T	10	43615004	43615004	C	T	RET	c.2418C>T	NM_020975.4	NP_066124.1:p.(Tyr806=)	NC_000010.10:g.43615004C>T	(Likely) benign	1 lab	2d599fc1f1
2:179526470 TTN A>G	2	179526470	179526470	A	G	TTN	c.37285+16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179526470A>G	(Likely) benign	1 lab	ce4105605a
2:33623566 LTBP1 C>T	2	33623566	33623566	C	T	LTBP1	c.5120C>T	NM_206943.4	NP_996826.3:p.(Pro1707Leu)	NC_000002.11:g.33623566C>T	(Likely) benign	1 lab	ce420dc620
15:34023720 RYR3 A>G	15	34023720	34023720	A	G	RYR3	c.7249A>G	NM_001036.6	NP_001027.3:p.(Ile2417Val)	NC_000015.9:g.34023720A>G	VUS	1 lab	ce429a65aa
8:144874696 SCRIB C>G	8	144874696	144874696	C	G	SCRIB	c.4287G>C	NM_182706.5	NP_874365.3:p.(Glu1429Asp)	NC_000008.10:g.144874696C>G	(Likely) benign	1 lab	ce42ee3d0f
3:53684789 CACNA1D T>A	3	53684789	53684789	T	A	CACNA1D	c.484-17T>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53684789T>A	(Likely) benign	1 lab	2d5b3c6e6b
16:89836384 FANCA C>T	16	89836384	89836384	C	T	FANCA	c.2365G>A	NM_000135.4	NP_000126.2:p.(Val789Met)	NC_000016.9:g.89836384C>T	VUS	1 lab	ce444de5f8
6:157488279 ARID1B G>A	6	157488279	157488279	G	A	ARID1B	c.3195G>A	NM_001374828.1	NP_001361757.1:p.(Pro1065=)	NC_000006.11:g.157488279G>A	(Likely) benign	1 lab	ce464b4a88
15:75664471 SIN3A C>T	15	75664471	75664471	C	T	SIN3A	c.3671G>A	NM_001145358.2	NP_001138830.1:p.(Arg1224His)	NC_000015.9:g.75664471C>T	(Likely) benign	1 lab	ce4704c2fd
11:67818007 TCIRG1 C>T	11	67818007	67818007	C	T	TCIRG1	c.2290C>T	NM_006019.4	NP_006010.2:p.(Arg764Trp)	NC_000011.9:g.67818007C>T	(Likely) benign	1 lab	ce498eb66d
5:32780930 NPR3 C>T	5	32780930	32780930	C	T	NPR3	c.1290+8C>T	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32780930C>T	(Likely) benign	1 lab	ce49935273
12:7342879 PEX5 C>T	12	7342879	7342879	C	T	PEX5	c.-16-79C>T	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7342879C>T	(Likely) benign	1 lab	ce4a3f0a89
2:202614468 ALS2 G>A	2	202614468	202614468	G	A	ALS2	c.1782C>T	NM_020919.4	NP_065970.2:p.(Ser594=)	NC_000002.11:g.202614468G>A	(Likely) benign	1 lab	2d5de0c719
X:77289307 ATP7A G>A	X	77289307	77289307	G	A	ATP7A	c.3499G>A	NM_000052.7	NP_000043.4:p.(Ala1167Thr)	NC_000023.10:g.77289307G>A	(Likely) benign	1 lab	ce4d460465
12:81111093 MYF5 G>C	12	81111093	81111093	G	C	MYF5	c.251G>C	NM_005593.3	NP_005584.2:p.(Arg84Pro)	NC_000012.11:g.81111093G>C	VUS	1 lab	ce4d4b6567
11:108175434 ATM A>G	11	108175434	108175434	A	G	ATM	c.5529A>G	NM_000051.4	NP_000042.3:p.(Pro1843=)	NC_000011.9:g.108175434A>G	(Likely) benign	1 lab	ce5249a9ff
1:10708153 CASZ1 C>A	1	10708153	10708153	C	A	CASZ1	c.3202G>T	NM_001079843.3	NP_001073312.1:p.(Glu1068Ter)	NC_000001.10:g.10708153C>A	(Likely) pathogenic	1 lab	ce525c2e16
1:16264657 SPEN G>A	1	16264657	16264657	G	A	SPEN	c.10704+156G>A	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16264657G>A	(Likely) benign	1 lab	ce54acee84
14:35245332 BAZ1A G>A	14	35245332	35245332	G	A	BAZ1A	c.2626C>T	NM_013448.3	NP_038476.2:p.(Arg876Cys)	NC_000014.8:g.35245332G>A	(Likely) benign	1 lab	ce54e54308
15:99482456 IGF1R C>A	15	99482456	99482456	C	A	IGF1R	c.3324C>A	NM_000875.5	NP_000866.1:p.(Ser1108Arg)	NC_000015.9:g.99482456C>A	VUS	1 lab	ce553df1b4
16:3640477 SLX4 C>T	16	3640477	3640477	C	T	SLX4	c.3162G>A	NM_032444.4	NP_115820.2:p.(Ser1054=)	NC_000016.9:g.3640477C>T	(Likely) benign	1 lab	ce5616c2c3
22:41574132 EP300 C>T	22	41574132	41574132	C	T	EP300	c.6417C>T	NM_001429.4	NP_001420.2:p.(Gly2139=)	NC_000022.10:g.41574132C>T	(Likely) benign	1 lab	ce56ad9b73
7:151916351 KMT2C G>A	7	151916351	151916351	G	A	KMT2C	c.3712+1257C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151916351G>A	(Likely) benign	1 lab	ce572f6bd0
3:93769668 ARL13B T>G	3	93769668	93769668	T	G	ARL13B	c.1142T>G	NM_001174150.2	NP_001167621.1:p.(Val381Gly)	NC_000003.11:g.93769668T>G	VUS	1 lab	ce5792b128
19:15299072 NOTCH3 T>C	19	15299072	15299072	T	C	NOTCH3	c.1466A>G	NM_000435.3	NP_000426.2:p.(Asn489Ser)	NC_000019.9:g.15299072T>C	(Likely) benign	1 lab	ce57b73d8d
17:7132292 DVL2 G>C	17	7132292	7132292	G	C	DVL2	c.1030C>G	NM_004422.3	NP_004413.1:p.(Pro344Ala)	NC_000017.10:g.7132292G>C	(Likely) benign	1 lab	ce58438997
20:62198297 HELZ2 G>T	20	62198297	62198297	G	T	HELZ2	c.2414C>A	NM_001037335.2	NP_001032412.2:p.(Ala805Glu)	NC_000020.10:g.62198297G>T	(Likely) benign	1 lab	ce58a5d70c
2:179446623 TTN G>A	2	179446623	179446623	G	A	TTN	c.66463+10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179446623G>A	(Likely) benign	1 lab	ce58b945a7
4:126371626 FAT4 T>C	4	126371626	126371626	T	C	FAT4	c.9461T>C	NM_001291303.3	NP_001278232.1:p.(Leu3154Pro)	NC_000004.11:g.126371626T>C	VUS	1 lab	ce598c0d05
16:9024195 USP7 C>T	16	9024195	9024195	C	T	USP7	c.139G>A	NM_003470.3	NP_003461.2:p.(Ala47Thr)	NC_000016.9:g.9024195C>T	VUS	1 lab	ce5c5768b9
X:50376576 SHROOM4 C>T	X	50376576	50376576	C	T	SHROOM4	c.2497G>A	NM_020717.5	NP_065768.2:p.(Ala833Thr)	NC_000023.10:g.50376576C>T	(Likely) benign	1 lab	ce5e54c562
4:1953948 NSD2 G>C	4	1953948	1953948	G	C	NSD2	c.2127G>C	NM_001042424.3	NP_001035889.1:p.(Glu709Asp)	NC_000004.11:g.1953948G>C	VUS	1 lab	ce6160784e
16:74671793 RFWD3 G>T	16	74671793	74671793	G	T	RFWD3	c.1155C>A	NM_018124.4	NP_060594.3:p.(Val385=)	NC_000016.9:g.74671793G>T	VUS	1 lab	ce635448a7
3:25666237 TOP2B C>T	3	25666237	25666237	C	T	TOP2B	c.2282G>A	NM_001330700.2	NP_001317629.1:p.(Arg761His)	NC_000003.11:g.25666237C>T	VUS	1 lab	ce65e411f4
15:42686487 CAPN3 C>T	15	42686487	42686487	C	T	CAPN3	c.1063C>T	NM_000070.3	NP_000061.1:p.(Arg355Trp)	NC_000015.9:g.42686487C>T	(Likely) pathogenic	1 lab	ce66bd3c51
11:62458753 BSCL2 T>G	11	62458753	62458753	T	G	BSCL2	c.1004A>C	NM_001122955.4	NP_001116427.1:p.(Gln335Pro)	NC_000011.9:g.62458753T>G	(Likely) pathogenic	1 lab	ce6859c68f
9:95036808 IARS1 A>T	9	95036808	95036808	A	T	IARS1	c.895-5T>A	NM_002161.6	NP_002152.2:p.?	NC_000009.11:g.95036808A>T	VUS	1 lab	ce698b5357
10:89474859 PAPSS2 A>C	10	89474859	89474859	A	C	PAPSS2	c.753+4A>C	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89474859A>C	(Likely) benign	1 lab	ce6b862808
17:42977229 DNAAF19 T>C	17	42977229	42977229	T	C	DNAAF19	c.-10+2T>C	NM_213607.3	NP_998772.1:p.?	NC_000017.10:g.42977229T>C	VUS	1 lab	ce6c4cf52e
16:89347326 ANKRD11 A>G	16	89347326	89347326	A	G	ANKRD11	c.5624T>C	NM_013275.6	NP_037407.4:p.(Val1875Ala)	NC_000016.9:g.89347326A>G	VUS	1 lab	ce6c59d8eb
15:64005080 HERC1 G>T	15	64005080	64005080	G	T	HERC1	c.4478C>A	NM_003922.4	NP_003913.3:p.(Thr1493Asn)	NC_000015.9:g.64005080G>T	VUS	1 lab	ce6cdbb93d
X:50213339 DGKK CGGTTCTGGGGCCGGCTCTGTGGCA>C	X	50213339	50213401	CGGTTCTGGGGCCGGCTCTGTGGCA	C	DGKK	c.315_338del	NM_001013742.4	NP_001013764.1:p.(Thr107_Ala114del)	NC_000023.10:g.50213378_50213401del	VUS	1 lab	ce6cdd9dd2
11:6662406 DCHS1 G>A	11	6662406	6662406	G	A	DCHS1	c.439C>T	NM_003737.4	NP_003728.1:p.(Arg147Trp)	NC_000011.9:g.6662406G>A	(Likely) pathogenic	1 lab	ce6cf85002
11:119149429 CBL A>T	11	119149429	119149429	A	T	CBL	c.1431+6A>T	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119149429A>T	(Likely) benign	1 lab	ce6e4a2936
11:118377139 KMT2A GC>G	11	118377139	118377143	GC	G	KMT2A	c.10536del	NM_001197104.2	NP_001184033.1:p.(Thr3513ProfsTer38)	NC_000011.9:g.118377143del	(Likely) pathogenic	1 lab	ce7014c207
X:65253406 VSIG4 G>A	X	65253406	65253406	G	A	VSIG4	c.322C>T	NM_007268.3	NP_009199.1:p.(Arg108Trp)	NC_000023.10:g.65253406G>A	(Likely) benign	1 lab	ce7107bbe2
9:98224163 PTCH1 C>T	9	98224163	98224163	C	T	PTCH1	c.2678G>A	NM_000264.5	NP_000255.2:p.(Arg893His)	NC_000009.11:g.98224163C>T	VUS	1 lab	ce74aea9bf
X:140993856 MAGEC1 G>C	X	140993856	140993856	G	C	MAGEC1	c.666G>C	NM_005462.5	NP_005453.2:p.(Gln222His)	NC_000023.10:g.140993856G>C	(Likely) benign	1 lab	ce771a162a
8:41530256 ANK1 GCAGACCACACCTGCATGT>G	8	41530256	41530279	GCAGACCACACCTGCATGT	G	ANK1	c.4694_4711del	NM_000037.4	NP_000028.3:p.(Asp1565_Ser1570del)	NC_000008.10:g.41530262_41530279del	VUS	1 lab	ce786eb967
1:41296962 KCNQ4 G>A	1	41296962	41296962	G	A	KCNQ4	c.1499G>A	NM_004700.4	NP_004691.2:p.(Arg500His)	NC_000001.10:g.41296962G>A	(Likely) benign	1 lab	ce792ae4a6
7:6178723 USP42 G>A	7	6178723	6178723	G	A	USP42	c.554G>A	NM_032172.3	NP_115548.1:p.(Arg185His)	NC_000007.13:g.6178723G>A	VUS	1 lab	ce7ac12c4e
7:92734557 SAMD9 C>T	7	92734557	92734557	C	T	SAMD9	c.854G>A	NM_017654.4	NP_060124.2:p.(Arg285Gln)	NC_000007.13:g.92734557C>T	(Likely) benign	1 lab	ce8205a12d
X:15349635 PIGA A>G	X	15349635	15349635	A	G	PIGA	c.418T>C	NM_002641.4	NP_002632.1:p.(Phe140Leu)	NC_000023.10:g.15349635A>G	(Likely) benign	1 lab	ce8527503b
3:192516469 MB21D2 C>A	3	192516469	192516469	C	A	MB21D2	c.1182G>T	NM_178496.4	NP_848591.2:p.(Met394Ile)	NC_000003.11:g.192516469C>A	VUS	1 lab	ce864af70e
15:43658415 ZSCAN29 CCCT>C	15	43658415	43658422	CCCT	C	ZSCAN29	c.1112_1114del	NM_001372080.1	NP_001359009.1:p.(Glu371del)	NC_000015.9:g.43658420_43658422del	VUS	1 lab	ce868c42f9
20:5283294 PROKR2 G>A	20	5283294	5283294	G	A	PROKR2	c.547C>T	NM_144773.4	NP_658986.1:p.(Leu183Phe)	NC_000020.10:g.5283294G>A	VUS	1 lab	ce86ab7625
2:48950789 LHCGR C>T	2	48950789	48950789	C	T	LHCGR	c.430G>A	NM_000233.4	NP_000224.2:p.(Val144Ile)	NC_000002.11:g.48950789C>T	VUS	1 lab	cefb000531
17:70119992 SOX9 G>A	17	70119992	70119992	G	A	SOX9	c.994G>A	NM_000346.4	NP_000337.1:p.(Gly332Ser)	NC_000017.10:g.70119992G>A	VUS	1 lab	cea2d2845c
14:78082800 SPTLC2 G>GGCGGCT	14	78082800	78082820	G	GGCGGCT	SPTLC2	c.117_122dup	NM_004863.4	NP_004854.1:p.(Ala41_Ala42dup)	NC_000014.8:g.78082815_78082820dup	VUS	1 lab	ce8888f774
18:46619595 DYM C>G	18	46619595	46619595	C	G	DYM	c.2025+4177G>C	NM_001353214.3	NP_001340143.1:p.?	NC_000018.9:g.46619595C>G	VUS	1 lab	ce896f3106
3:119133088 ARHGAP31 T>C	3	119133088	119133088	T	C	ARHGAP31	c.2312T>C	NM_020754.4	NP_065805.2:p.(Val771Ala)	NC_000003.11:g.119133088T>C	(Likely) benign	1 lab	ce89932159
14:88416199 GALC T>G	14	88416199	88416199	T	G	GALC	c.1328A>C	NM_000153.4	NP_000144.2:p.(Asp443Ala)	NC_000014.8:g.88416199T>G	VUS	1 lab	ce8a199879
20:31814736 BPIFA3 G>A	20	31814736	31814736	G	A	BPIFA3	c.622G>A	NM_178466.5	NP_848561.2:p.(Val208Ile)	NC_000020.10:g.31814736G>A	(Likely) benign	1 lab	ce8ae563f7
1:40668255 RLF C>G	1	40668255	40668255	C	G	RLF	c.779C>G	NM_012421.4	NP_036553.2:p.(Ser260Cys)	NC_000001.10:g.40668255C>G	VUS	1 lab	ce8bf4f196
1:152084563 TCHH A>T	1	152084563	152084563	A	T	TCHH	c.1130T>A	NM_007113.4	NP_009044.2:p.(Leu377Gln)	NC_000001.10:g.152084563A>T	(Likely) benign	1 lab	ce8c47f325
11:126139313 FOXRED1 T>A	11	126139313	126139313	T	A	FOXRED1	c.85+127T>A	NM_017547.4	NP_060017.1:p.?	NC_000011.9:g.126139313T>A	(Likely) benign	1 lab	2b6af4940b
4:16193100 TAPT1 C>A	4	16193100	16193100	C	A	TAPT1	c.496G>T	NM_153365.3	NP_699196.2:p.(Gly166Cys)	NC_000004.11:g.16193100C>A	(Likely) benign	1 lab	ce8dc4d570
13:25484005 CPAP AAATTAGGAG>A	13	25484005	25484015	AAATTAGGAG	A	CPAP	c.779_787del	NM_018451.5	NP_060921.3:p.(Ser260_Asn262del)	NC_000013.10:g.25484007_25484015del	VUS	1 lab	ce8f6e688e
20:2384242 TGM6 G>A	20	2384242	2384242	G	A	TGM6	c.1109G>A	NM_198994.3	NP_945345.2:p.(Gly370Asp)	NC_000020.10:g.2384242G>A	VUS	1 lab	ce92476b40
7:143417179 TCAF2 G>A	7	143417179	143417179	G	A	TCAF2	c.1027G>A	NM_001363538.2	NP_001350467.1:p.(Glu343Lys)	NC_000007.13:g.143417179G>A	(Likely) benign	1 lab	ce93ceab50
15:67418326 SMAD3 A>G	15	67418326	67418326	A	G	SMAD3	c.207-38907A>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67418326A>G	(Likely) benign	1 lab	ce95809286
10:76739085 KAT6B A>G	10	76739085	76739085	A	G	KAT6B	c.2219A>G	NM_012330.4	NP_036462.2:p.(Gln740Arg)	NC_000010.10:g.76739085A>G	(Likely) benign	1 lab	ce9811d4e0
19:38939038 RYR1 C>T	19	38939038	38939038	C	T	RYR1	c.844C>T	NM_000540.3	NP_000531.2:p.(Arg282Trp)	NC_000019.9:g.38939038C>T	VUS	1 lab	ce982bbfd5
17:6331711 AIPL1 G>T	17	6331711	6331711	G	T	AIPL1	c.392C>A	NM_014336.5	NP_055151.3:p.(Thr131Lys)	NC_000017.10:g.6331711G>T	(Likely) benign	1 lab	ce988272e5
6:112382222 CCN6 C>T	6	112382222	112382222	C	T	CCN6	c.77C>T	NM_198239.2	NP_937882.2:p.(Pro26Leu)	NC_000006.11:g.112382222C>T	(Likely) benign	1 lab	ce98c6f93c
X:149639358 MAMLD1 G>A	X	149639358	149639358	G	A	MAMLD1	c.1513G>A	NM_005491.5	NP_005482.2:p.(Val505Met)	NC_000023.10:g.149639358G>A	VUS	1 lab	ce99c788c6
X:153707209 LAGE3 C>G	X	153707209	153707209	C	G	LAGE3	c.46G>C	NM_006014.5	NP_006005.2:p.(Asp16His)	NC_000023.10:g.153707209C>G	VUS	1 lab	ce9a2a0602
X:44171845 EFHC2 T>A	X	44171845	44171845	T	A	EFHC2	c.200A>T	NM_025184.4	NP_079460.2:p.(Asp67Val)	NC_000023.10:g.44171845T>A	(Likely) benign	1 lab	ce9a7d1c31
8:27660885 ESCO2 C>A	8	27660885	27660885	C	A	ESCO2	c.1736C>A	NM_001017420.3	NP_001017420.1:p.(Pro579Gln)	NC_000008.10:g.27660885C>A	VUS	1 lab	ce9df98751
9:138758297 CAMSAP1 T>G	9	138758297	138758297	T	G	CAMSAP1	c.666+5A>C	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138758297T>G	(Likely) benign	1 lab	ce9e648613
3:37089069 MLH1 G>GACC	3	37089069	37089072	G	GACC	MLH1	c.1793_1794insCAC	NM_000249.4	NP_000240.1:p.(Thr598dup)	NC_000003.11:g.37089071_37089072insCAC	VUS	1 lab	ce9fb08bde
7:44184845 GCK G>A	7	44184845	44184845	G	A	GCK	c.1288C>T	NM_000162.5	NP_000153.1:p.(Leu430=)	NC_000007.13:g.44184845G>A	(Likely) benign	1 lab	cea0cd95e5
21:34861335 DNAJC28 ATCTTCT>A	21	34861335	34861349	ATCTTCT	A	DNAJC28	c.360_365del	NM_001040192.3	NP_001035282.1:p.(Glu120_Glu121del)	NC_000021.8:g.34861344_34861349del	(Likely) benign	1 lab	cea0d0c93a
2:179460236 TTN A>T	2	179460236	179460236	A	T	TTN	c.57845T>A	NM_001267550.2	NP_001254479.2:p.(Ile19282Lys)	NC_000002.11:g.179460236A>T	(Likely) benign	1 lab	cea31c3ec3
15:90190258 KIF7 TCTC>T	15	90190258	90190266	TCTC	T	KIF7	c.1588_1590del	NM_198525.3	NP_940927.2:p.(Glu530del)	NC_000015.9:g.90190264_90190266del	VUS	1 lab	cea32db2f6
6:30690427 TUBB G>A	6	30690427	30690427	G	A	TUBB	c.166+5G>A	NM_178014.4	NP_821133.1:p.?	NC_000006.11:g.30690427G>A	(Likely) benign	1 lab	cea340bc1c
22:42606072 TCF20 C>T	22	42606072	42606072	C	T	TCF20	c.5240G>A	NM_001378418.1	NP_001365347.1:p.(Ser1747Asn)	NC_000022.10:g.42606072C>T	VUS	1 lab	cea51c5bfd
X:80370502 HMGN5 C>G	X	80370502	80370502	C	G	HMGN5	c.495G>C	NM_030763.3	NP_110390.1:p.(Glu165Asp)	NC_000023.10:g.80370502C>G	VUS	1 lab	cea89f4ea1
14:77751912 POMT2 G>A	14	77751912	77751912	G	A	POMT2	c.1396C>T	NM_013382.7	NP_037514.2:p.(Arg466Trp)	NC_000014.8:g.77751912G>A	VUS	1 lab	cea9746947
11:61109960 TKFC G>A	11	61109960	61109960	G	A	TKFC	c.683G>A	NM_015533.4	NP_056348.2:p.(Arg228Gln)	NC_000011.9:g.61109960G>A	VUS	1 lab	cea98e1cb7
15:78768591 IREB2 A>G	15	78768591	78768591	A	G	IREB2	c.1085A>G	NM_004136.4	NP_004127.2:p.(Gln362Arg)	NC_000015.9:g.78768591A>G	VUS	1 lab	ceaadf0c3b
20:57415184 GNAS-AS1 A>T	20	57415184	57415184	A	T	GNAS-AS1	n.672+1808T>A	NR_185847.1		NC_000020.10:g.57415184A>T	VUS	1 lab	ceab1b7b03
10:120931900 PRDX3 G>A	10	120931900	120931900	G	A	PRDX3	c.545C>T	NM_006793.5	NP_006784.1:p.(Ala182Val)	NC_000010.10:g.120931900G>A	VUS	1 lab	ceab9fab3a
1:41284251 KCNQ4 C>G	1	41284251	41284251	C	G	KCNQ4	c.607C>G	NM_004700.4	NP_004691.2:p.(Leu203Val)	NC_000001.10:g.41284251C>G	(Likely) benign	1 lab	ceaba2aee9
9:113449415 MUSK C>T	9	113449415	113449415	C	T	MUSK	c.225C>T	NM_005592.4	NP_005583.1:p.(Tyr75=)	NC_000009.11:g.113449415C>T	(Likely) benign	1 lab	ceac41e14c
20:2637755 NOP56 G>A	20	2637755	2637755	G	A	NOP56	c.1310G>A	NM_006392.4	NP_006383.2:p.(Arg437Lys)	NC_000020.10:g.2637755G>A	(Likely) benign	1 lab	ceac7f9d1e
4:62761536 ADGRL3 A>G	4	62761536	62761536	A	G	ADGRL3	c.1871A>G	NM_001387552.1	NP_001374481.1:p.(Asn624Ser)	NC_000004.11:g.62761536A>G	VUS	1 lab	ceb0680dc2
5:141336966 PCDH12 G>A	5	141336966	141336966	G	A	PCDH12	c.451C>T	NM_016580.4	NP_057664.1:p.(Arg151Ter)	NC_000005.9:g.141336966G>A	(Likely) pathogenic	1 lab	ceb083de8b
9:118969773 PAPPA A>C	9	118969773	118969773	A	C	PAPPA	c.1517A>C	NM_002581.5	NP_002572.2:p.(Lys506Thr)	NC_000009.11:g.118969773A>C	(Likely) benign	1 lab	ceb0b68f8a
4:55984852 KDR C>T	4	55984852	55984852	C	T	KDR	c.277G>A	NM_002253.4	NP_002244.1:p.(Val93Met)	NC_000004.11:g.55984852C>T	VUS	1 lab	2b6b508548
17:7490332 MPDU1 G>T	17	7490332	7490332	G	T	MPDU1	c.504G>T	NM_004870.4	NP_004861.2:p.(Gly168=)	NC_000017.10:g.7490332G>T	VUS	1 lab	ceb25aabf8
5:115783499 SEMA6A G>C	5	115783499	115783499	G	C	SEMA6A	c.1903C>G	NM_020796.5	NP_065847.1:p.(Arg635Gly)	NC_000005.9:g.115783499G>C	VUS	1 lab	ceb2616d7a
13:77718663 MYCBP2 T>C	13	77718663	77718663	T	C	MYCBP2	c.7220A>G	NM_015057.5	NP_055872.4:p.(Asn2407Ser)	NC_000013.10:g.77718663T>C	VUS	1 lab	ceb2cf44b9
2:158622635 ACVR1 C>T	2	158622635	158622635	C	T	ACVR1	c.864G>A	NM_001111067.4	NP_001104537.1:p.(Met288Ile)	NC_000002.11:g.158622635C>T	VUS	1 lab	ceb4e953fa
16:2147255 PKD1 G>A	16	2147255	2147255	G	A	PKD1	c.10406-13C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147255G>A	(Likely) benign	1 lab	ceb5ac1953
16:88873751 CDT1 G>GAA	16	88873751	88873752	G	GAA	CDT1	c.1338_1339insAA	NM_030928.4	NP_112190.2:p.(Arg447AsnfsTer6)	NC_000016.9:g.88873751_88873752insAA	VUS	1 lab	ceb6b17ddb
20:9288523 PLCB4 C>A	20	9288523	9288523	C	A	PLCB4	c.62C>A	NM_001377142.1	NP_001364071.1:p.(Ala21Glu)	NC_000020.10:g.9288523C>A	VUS	1 lab	ceb760bf82
1:22154387 HSPG2 G>A	1	22154387	22154387	G	A	HSPG2	c.12558C>T	NM_005529.7	NP_005520.4:p.(Ser4186=)	NC_000001.10:g.22154387G>A	(Likely) benign	1 lab	ceb7eea5fd
2:153520766 PRPF40A T>C	2	153520766	153520766	T	C	PRPF40A	c.1891A>G	NM_001365597.4	NP_001352526.1:p.(Ile631Val)	NC_000002.11:g.153520766T>C	VUS	1 lab	ceb9c57ffc
6:33411488 SYNGAP1 C>T	6	33411488	33411488	C	T	SYNGAP1	c.3159C>T	NM_006772.3	NP_006763.2:p.(Ser1053=)	NC_000006.11:g.33411488C>T	VUS	1 lab	2b6c0b58a5
17:65940357 BPTF C>A	17	65940357	65940357	C	A	BPTF	c.6569C>A	NM_182641.4	NP_872579.2:p.(Pro2190Gln)	NC_000017.10:g.65940357C>A	VUS	1 lab	cebabf6df2
2:27715558 FNDC4 T>C	2	27715558	27715558	T	C	FNDC4	c.644A>G	NM_022823.3	NP_073734.1:p.(Gln215Arg)	NC_000002.11:g.27715558T>C	(Likely) benign	1 lab	cebbe044ef
15:23689202 GOLGA6L2 G>A	15	23689202	23689202	G	A	GOLGA6L2	c.313C>T	NM_001304388.2	NP_001291317.1:p.(Arg105Ter)	NC_000015.9:g.23689202G>A	(Likely) benign	1 lab	cebc88be9f
16:29821509 MAZ G>T	16	29821509	29821509	G	T	MAZ	c.1391G>T	NM_002383.4	NP_002374.2:p.(Gly464Val)	NC_000016.9:g.29821509G>T	(Likely) benign	1 lab	cebd65b23c
15:40662077 DISP2 A>G	15	40662077	40662077	A	G	DISP2	c.3764A>G	NM_033510.3	NP_277045.1:p.(Glu1255Gly)	NC_000015.9:g.40662077A>G	(Likely) benign	1 lab	cebd6a4192
4:88967828 PKD2 A>G	4	88967828	88967828	A	G	PKD2	c.1354A>G	NM_000297.4	NP_000288.1:p.(Ile452Val)	NC_000004.11:g.88967828A>G	(Likely) benign	1 lab	cebe158c23
14:74004522 ACOT1 G>C	14	74004522	74004522	G	C	ACOT1	c.397G>C	NM_001037161.2	NP_001032238.1:p.(Gly133Arg)	NC_000014.8:g.74004522G>C	(Likely) benign	1 lab	cebf7c5538
2:220346141 SPEG C>T	2	220346141	220346141	C	T	SPEG	c.5485C>T	NM_005876.5	NP_005867.3:p.(Arg1829Trp)	NC_000002.11:g.220346141C>T	VUS	1 lab	cec055a88b
6:49412460 MMUT G>C	6	49412460	49412460	G	C	MMUT	c.1568C>G	NM_000255.4	NP_000246.2:p.(Ser523Cys)	NC_000006.11:g.49412460G>C	VUS	1 lab	cec13fca95
11:10647613 IRAG1 G>A	11	10647613	10647613	G	A	IRAG1	c.1268C>T	NM_130385.4	NP_569056.4:p.(Ala423Val)	NC_000011.9:g.10647613G>A	(Likely) benign	1 lab	cec16d1c9e
16:1420326 UNKL C>T	16	1420326	1420326	C	T	UNKL	c.1390G>A	NM_001372107.1	NP_001359036.1:p.(Ala464Thr)	NC_000016.9:g.1420326C>T	VUS	1 lab	cec45ae5e9
1:152286148 FLG G>A	1	152286148	152286148	G	A	FLG	c.1214C>T	NM_002016.2	NP_002007.1:p.(Ala405Val)	NC_000001.10:g.152286148G>A	VUS	1 lab	cec59e66d1
X:70444246 GJB1 G>A	X	70444246	70444246	G	A	GJB1	c.689G>A	NM_000166.6	NP_000157.1:p.(Arg230His)	NC_000023.10:g.70444246G>A	VUS	1 lab	cec7149061
12:121426831 HNF1A G>A	12	121426831	121426831	G	A	HNF1A	c.522G>A	NM_000545.8	NP_000536.6:p.(Ala174=)	NC_000012.11:g.121426831G>A	(Likely) benign	1 lab	cec7506bee
2:166898758 SCN1A G>A	2	166898758	166898758	G	A	SCN1A	c.2176+44C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166898758G>A	(Likely) benign	1 lab	2d63344c32
X:135313104 MAP7D3 C>G	X	135313104	135313104	C	G	MAP7D3	c.1435G>C	NM_024597.4	NP_078873.2:p.(Ala479Pro)	NC_000023.10:g.135313104C>G	VUS	1 lab	cec81a1360
5:127873127 FBN2 C>A	5	127873127	127873127	C	A	FBN2	c.170G>T	NM_001999.4	NP_001990.2:p.(Gly57Val)	NC_000005.9:g.127873127C>A	VUS	1 lab	cec9496db0
11:65306639 LTBP3 T>C	11	65306639	65306639	T	C	LTBP3	c.3824A>G	NM_001130144.3	NP_001123616.1:p.(Asn1275Ser)	NC_000011.9:g.65306639T>C	VUS	1 lab	cec9dc6141
14:105685327 BRF1 G>A	14	105685327	105685327	G	A	BRF1	c.1515+8C>T	NM_001519.4	NP_001510.2:p.?	NC_000014.8:g.105685327G>A	(Likely) benign	1 lab	cecb10a3bb
15:93485113 CHD2 G>A	15	93485113	93485113	G	A	CHD2	c.754G>A	NM_001271.4	NP_001262.3:p.(Gly252Arg)	NC_000015.9:g.93485113G>A	VUS	1 lab	2b6cad2e3e
2:141806796 LRP1B A>G	2	141806796	141806796	A	G	LRP1B	c.1553-5T>C	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141806796A>G	VUS	1 lab	cecbea3547
12:112617021 HECTD4 T>C	12	112617021	112617021	T	C	HECTD4	c.11168A>G	NM_001388303.1	NP_001375232.1:p.(Asn3723Ser)	NC_000012.11:g.112617021T>C	(Likely) benign	1 lab	cecd8d4f33
5:45267358 HCN1 A>G	5	45267358	45267358	A	G	HCN1	c.1619-3T>C	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45267358A>G	(Likely) benign	1 lab	2d65b0bac5
19:13345796 CACNA1A A>G	19	13345796	13345796	A	G	CACNA1A	c.5188T>C	NM_001127222.2	NP_001120694.1:p.(Phe1730Leu)	NC_000019.9:g.13345796A>G	(Likely) benign	1 lab	cecea9a8c3
17:78082585 GAA G>A	17	78082585	78082585	G	A	GAA	c.1284G>A	NM_000152.5	NP_000143.2:p.(Val428=)	NC_000017.10:g.78082585G>A	VUS	1 lab	cecfeca8f7
17:7578277 TP53 G>A	17	7578277	7578277	G	A	TP53	c.572C>T	NM_000546.6	NP_000537.3:p.(Pro191Leu)	NC_000017.10:g.7578277G>A	VUS	1 lab	ced1591bd6
17:1479954 SLC43A2 G>A	17	1479954	1479954	G	A	SLC43A2	c.1485C>T	NM_152346.3	NP_689559.1:p.(Phe495=)	NC_000017.10:g.1479954G>A	VUS	1 lab	ced1f36a1a
22:29117624 CHEK2 T>TA	22	29117624	29117635	T	TA	CHEK2	c.593-2152dup	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29117635dup	(Likely) benign	1 lab	ced2304fe8
7:4827359 AP5Z1 C>A	7	4827359	4827359	C	A	AP5Z1	c.1406C>A	NM_014855.3	NP_055670.1:p.(Ala469Glu)	NC_000007.13:g.4827359C>A	(Likely) benign	1 lab	ced29df753
1:235933535 LYST C>G	1	235933535	235933535	C	G	LYST	c.5847G>C	NM_000081.4	NP_000072.2:p.(Gln1949His)	NC_000001.10:g.235933535C>G	(Likely) benign	1 lab	ced3cfacdb
12:49435032 KMT2D T>C	12	49435032	49435032	T	C	KMT2D	c.6521A>G	NM_003482.4	NP_003473.3:p.(Gln2174Arg)	NC_000012.11:g.49435032T>C	(Likely) benign	1 lab	ced412b8e7
12:111734277 CUX2 C>T	12	111734277	111734277	C	T	CUX2	c.638C>T	NM_015267.4	NP_056082.2:p.(Ala213Val)	NC_000012.11:g.111734277C>T	(Likely) benign	1 lab	ced448de9d
11:16256198 SOX6 T>G	11	16256198	16256198	T	G	SOX6	c.465A>C	NM_001367873.1	NP_001354802.1:p.(Lys155Asn)	NC_000011.9:g.16256198T>G	VUS	1 lab	ced4a78f06
2:27150262 DPYSL5 G>A	2	27150262	27150262	G	A	DPYSL5	c.562G>A	NM_020134.4	NP_064519.2:p.(Ala188Thr)	NC_000002.11:g.27150262G>A	(Likely) benign	1 lab	ced5a9b285
X:153582066 FLNA A>G	X	153582066	153582066	A	G	FLNA	c.5716T>C	NM_001110556.2	NP_001104026.1:p.(Ser1906Pro)	NC_000023.10:g.153582066A>G	VUS	1 lab	ced6e13914
17:56056604 VEZF1 TTGCTGCTGC>T	17	56056604	56056644	TTGCTGCTGC	T	VEZF1	c.1038_1046del	NM_007146.3	NP_009077.2:p.(Gln352_Gln354del)	NC_000017.10:g.56056636_56056644del	VUS	1 lab	ced855ba2f
2:152496962 NEB A>G	2	152496962	152496962	A	G	NEB	c.8592T>C	NM_001164508.2	NP_001157980.2:p.(Asp2864=)	NC_000002.11:g.152496962A>G	(Likely) benign	1 lab	ced8af0327
7:21630592 DNAH11 A>G	7	21630592	21630592	A	G	DNAH11	c.2226A>G	NM_001277115.2	NP_001264044.1:p.(Ile742Met)	NC_000007.13:g.21630592A>G	VUS	1 lab	ced91047d3
14:57268650 OTX2 TGGTACCCATGG>T	14	57268650	57268662	TGGTACCCATGG	T	OTX2	c.686_696del	NM_021728.4	NP_068374.1:p.(Pro229GlnfsTer27)	NC_000014.8:g.57268652_57268662del	(Likely) pathogenic	1 lab	ced93abafc
17:36666811 ARHGAP23 C>T	17	36666811	36666811	C	T	ARHGAP23	c.4079C>T	NM_001199417.2	NP_001186346.1:p.(Ala1360Val)	NC_000017.10:g.36666811C>T	(Likely) benign	1 lab	ceda35a5c7
1:11894438 CLCN6 A>G	1	11894438	11894438	A	G	CLCN6	c.1672A>G	NM_001286.5	NP_001277.2:p.(Met558Val)	NC_000001.10:g.11894438A>G	(Likely) benign	1 lab	ceda57ee1e
1:36384675 AGO1 A>G	1	36384675	36384675	A	G	AGO1	c.2285A>G	NM_012199.5	NP_036331.1:p.(His762Arg)	NC_000001.10:g.36384675A>G	VUS	1 lab	cedaae6b8f
19:47575277 ZC3H4 T>TC	19	47575277	47575278	T	TC	ZC3H4	c.1903dup	NM_015168.2	NP_055983.1:p.(Asp635GlyfsTer9)	NC_000019.9:g.47575278dup	VUS	1 lab	cedcccaf74
15:83348987 AP3B2 G>A	15	83348987	83348987	G	A	AP3B2	c.1056-6C>T	NM_001278512.2	NP_001265441.1:p.?	NC_000015.9:g.83348987G>A	(Likely) benign	1 lab	cede053f1b
12:125470689 DHX37 TCTC>T	12	125470689	125470694	TCTC	T	DHX37	c.226_228del	NM_032656.4	NP_116045.2:p.(Glu76del)	NC_000012.11:g.125470692_125470694del	VUS	1 lab	cede7f09b2
6:43480277 YIPF3 C>T	6	43480277	43480277	C	T	YIPF3	c.805G>A	NM_015388.4	NP_056203.2:p.(Val269Met)	NC_000006.11:g.43480277C>T	VUS	1 lab	cedf8b5cef
9:119460522 ASTN2 G>A	9	119460522	119460522	G	A	ASTN2	c.2806+27528C>T	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460522G>A	(Likely) benign	1 lab	cee162ddcf
5:131927679 RAD50 T>TA	5	131927679	131927682	T	TA	RAD50	c.1749dup	NM_005732.4	NP_005723.2:p.(Ser584IlefsTer5)	NC_000005.9:g.131927682dup	VUS	1 lab	cee1c54c4d
14:23863515 MYH6 A>T	14	23863515	23863515	A	T	MYH6	c.2447T>A	NM_002471.4	NP_002462.2:p.(Ile816Asn)	NC_000014.8:g.23863515A>T	(Likely) pathogenic	1 lab	cee32119e5
6:35200702 SCUBE3 G>A	6	35200702	35200702	G	A	SCUBE3	c.545G>A	NM_152753.4	NP_689966.2:p.(Cys182Tyr)	NC_000006.11:g.35200702G>A	VUS	1 lab	cee3c2ae48
12:50571330 LIMA1 G>T	12	50571330	50571330	G	T	LIMA1	c.1797C>A	NM_016357.5	NP_057441.1:p.(Ser599Arg)	NC_000012.11:g.50571330G>T	VUS	1 lab	cee54e51e7
1:7887697 PER3 C>A	1	7887697	7887697	C	A	PER3	c.2708C>A	NM_001377275.1	NP_001364204.1:p.(Pro903His)	NC_000001.10:g.7887697C>A	(Likely) benign	1 lab	ceec3e47d3
16:30734511 SRCAP C>T	16	30734511	30734511	C	T	SRCAP	c.4120C>T	NM_006662.3	NP_006653.2:p.(Leu1374Phe)	NC_000016.9:g.30734511C>T	VUS	1 lab	2b766738ff
16:89256832 CDH15 G>C	16	89256832	89256832	G	C	CDH15	c.1160G>C	NM_004933.3	NP_004924.1:p.(Gly387Ala)	NC_000016.9:g.89256832G>C	VUS	1 lab	ceee4b4ccb
7:99701134 AP4M1 G>A	7	99701134	99701134	G	A	AP4M1	c.454G>A	NM_004722.4	NP_004713.2:p.(Val152Ile)	NC_000007.13:g.99701134G>A	VUS	1 lab	ceeffb6650
10:95275312 CEP55 G>A	10	95275312	95275312	G	A	CEP55	c.679G>A	NM_018131.5	NP_060601.4:p.(Gly227Ser)	NC_000010.10:g.95275312G>A	VUS	1 lab	cef0058b3f
1:225599113 LBR G>A	1	225599113	225599113	G	A	LBR	c.1114C>T	NM_002296.4	NP_002287.2:p.(Arg372Cys)	NC_000001.10:g.225599113G>A	VUS	1 lab	cef03b5716
4:5733354 EVC A>G	4	5733354	5733354	A	G	EVC	c.587A>G	NM_153717.3	NP_714928.1:p.(Asn196Ser)	NC_000004.11:g.5733354A>G	VUS	1 lab	cef08cff8f
3:133878163 RYK C>T	3	133878163	133878163	C	T	RYK	c.1630G>A	NM_002958.4	NP_002949.2:p.(Val544Met)	NC_000003.11:g.133878163C>T	(Likely) benign	1 lab	cef32ae79c
19:3121083 GNA11 C>T	19	3121083	3121083	C	T	GNA11	c.986C>T	NM_002067.5	NP_002058.2:p.(Thr329Met)	NC_000019.9:g.3121083C>T	VUS	1 lab	cef3492aa4
X:77301975 ATP7A A>C	X	77301975	77301975	A	C	ATP7A	c.4411A>C	NM_000052.7	NP_000043.4:p.(Lys1471Gln)	NC_000023.10:g.77301975A>C	VUS	1 lab	cef34e58f1
5:60628528 ZSWIM6 CGGCGGCGGCGCG>C	5	60628528	60628550	CGGCGGCGGCGCG	C	ZSWIM6	c.440_451del	NM_020928.2	NP_065979.1:p.(Ala147_Gly150del)	NC_000005.9:g.60628539_60628550del	VUS	1 lab	cef6463404
15:57511415 TCF12 T>C	15	57511415	57511415	T	C	TCF12	c.580-11935T>C	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57511415T>C	(Likely) benign	1 lab	cef674a234
6:117246729 RFX6 AC>A	6	117246729	117246731	AC	A	RFX6	c.1794del	NM_173560.4	NP_775831.2:p.(Tyr599IlefsTer12)	NC_000006.11:g.117246731del	(Likely) pathogenic	1 lab	cef8a7631f
3:129290685 PLXND1 C>T	3	129290685	129290685	C	T	PLXND1	c.3080G>A	NM_015103.3	NP_055918.3:p.(Arg1027His)	NC_000003.11:g.129290685C>T	(Likely) benign	1 lab	cefb23033b
12:49426298 KMT2D C>T	12	49426298	49426298	C	T	KMT2D	c.12190G>A	NM_003482.4	NP_003473.3:p.(Glu4064Lys)	NC_000012.11:g.49426298C>T	(Likely) benign	1 lab	cefb59a9ab
4:79296919 FRAS1 A>C	4	79296919	79296919	A	C	FRAS1	c.3178A>C	NM_025074.7	NP_079350.5:p.(Ser1060Arg)	NC_000004.11:g.79296919A>C	(Likely) benign	1 lab	cefc90a8b9
17:71354245 SDK2 G>A	17	71354245	71354245	G	A	SDK2	c.5566C>T	NM_001144952.2	NP_001138424.1:p.(Arg1856Cys)	NC_000017.10:g.71354245G>A	(Likely) benign	1 lab	cefd37bbce
14:30132933 PRKD1 G>T	14	30132933	30132933	G	T	PRKD1	c.668C>A	NM_002742.3	NP_002733.2:p.(Ser223Tyr)	NC_000014.8:g.30132933G>T	(Likely) benign	1 lab	cefdcb30e9
1:9782386 PIK3CD C>T	1	9782386	9782386	C	T	PIK3CD	c.2319C>T	NM_005026.5	NP_005017.3:p.(Ser773=)	NC_000001.10:g.9782386C>T	(Likely) benign	1 lab	cf0017f8b2
2:128177426 PROC G>A	2	128177426	128177426	G	A	PROC	c.-21-72G>A	NM_000312.4	NP_000303.1:p.?	NC_000002.11:g.128177426G>A	VUS	1 lab	cf65c7edf8
15:58252958 ALDH1A2 T>G	15	58252958	58252958	T	G	ALDH1A2	c.1484+10A>C	NM_003888.4	NP_003879.2:p.?	NC_000015.9:g.58252958T>G	(Likely) benign	1 lab	cf017fe6a2
2:121708868 GLI2 C>T	2	121708868	121708868	C	T	GLI2	c.304C>T	NM_001374353.1	NP_001361282.1:p.(Arg102Trp)	NC_000002.11:g.121708868C>T	(Likely) benign	1 lab	cf0200e711
6:129833632 LAMA2 T>A	6	129833632	129833632	T	A	LAMA2	c.8982T>A	NM_000426.4	NP_000417.3:p.(Asp2994Glu)	NC_000006.11:g.129833632T>A	VUS	1 lab	cf029730e2
4:88534384 DSPP A>G	4	88534384	88534384	A	G	DSPP	c.1046A>G	NM_014208.3	NP_055023.2:p.(His349Arg)	NC_000004.11:g.88534384A>G	(Likely) benign	1 lab	cf03cf8d25
22:24300645 GSTT2B C>T	22	24300645	24300645	C	T	GSTT2B	c.352G>A	NM_001080843.4	NP_001074312.1:p.(Val118Met)	NC_000022.10:g.24300645C>T	VUS	1 lab	cf0473d746
7:119915653 KCND2 G>A	7	119915653	119915653	G	A	KCND2	c.967G>A	NM_012281.3	NP_036413.1:p.(Glu323Lys)	NC_000007.13:g.119915653G>A	VUS	1 lab	cf057c4acc
16:72828935 ZFHX3 TG>T	16	72828935	72828936	TG	T	ZFHX3	c.7645del	NM_006885.4	NP_008816.3:p.(Gln2549SerfsTer6)	NC_000016.9:g.72828936del	(Likely) pathogenic	1 lab	cf0715cf90
16:2158805 PKD1 G>A	16	2158805	2158805	G	A	PKD1	c.6363C>T	NM_001009944.2	NP_001009944.2:p.(Arg2121=)	NC_000016.9:g.2158805G>A	(Likely) benign	1 lab	2d672fd93e
10:112360237 SMC3 GTAT>G	10	112360237	112360245	GTAT	G	SMC3	c.2474_2476del	NM_005445.4	NP_005436.1:p.(Ile825del)	NC_000010.10:g.112360243_112360245del	VUS	1 lab	cf08537410
16:70543230 COG4 T>A	16	70543230	70543230	T	A	COG4	c.906A>T	NM_015386.3	NP_056201.2:p.(Arg302Ser)	NC_000016.9:g.70543230T>A	(Likely) benign	1 lab	cf091e444b
2:149528812 EPC2 C>T	2	149528812	149528812	C	T	EPC2	c.1576C>T	NM_015630.4	NP_056445.3:p.(Gln526Ter)	NC_000002.11:g.149528812C>T	VUS	1 lab	cf0a7e4d36
X:53115009 TSPYL2 A>G	X	53115009	53115009	A	G	TSPYL2	c.1435A>G	NM_022117.4	NP_071400.1:p.(Ser479Gly)	NC_000023.10:g.53115009A>G	(Likely) benign	1 lab	cf0b134e38
X:76954055 ATRX T>C	X	76954055	76954055	T	C	ATRX	c.189+7A>G	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76954055T>C	(Likely) benign	1 lab	cf0b62c6b7
8:55541988 RP1 A>G	8	55541988	55541988	A	G	RP1	c.5546A>G	NM_006269.2	NP_006260.1:p.(Asn1849Ser)	NC_000008.10:g.55541988A>G	VUS	1 lab	cf0bb306f1
1:186278228 PRG4 C>T	1	186278228	186278228	C	T	PRG4	c.3377C>T	NM_005807.6	NP_005798.3:p.(Pro1126Leu)	NC_000001.10:g.186278228C>T	VUS	1 lab	cf0c46b263
15:57816920 CGNL1 C>T	15	57816920	57816920	C	T	CGNL1	c.3010C>T	NM_032866.5	NP_116255.2:p.(Arg1004Ter)	NC_000015.9:g.57816920C>T	VUS	1 lab	cf0dc6f531
19:46282728 DMPK A>G	19	46282728	46282728	A	G	DMPK	c.335T>C	NM_001081563.2	NP_001075032.1:p.(Met112Thr)	NC_000019.9:g.46282728A>G	VUS	1 lab	2b782ff57f
19:47440657 ARHGAP35 A>C	19	47440657	47440657	A	C	ARHGAP35	c.3818A>C	NM_004491.5	NP_004482.4:p.(Glu1273Ala)	NC_000019.9:g.47440657A>C	VUS	1 lab	cf0f280d6c
11:640187 DRD4 C>G	11	640187	640187	C	G	DRD4	c.938C>G	NM_000797.4	NP_000788.2:p.(Pro313Arg)	NC_000011.9:g.640187C>G	VUS	1 lab	cf0f6052d9
9:124079332 GSN A>G	9	124079332	124079332	A	G	GSN	c.754-32A>G	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124079332A>G	(Likely) benign	1 lab	cf0fe59aa2
11:113194708 TTC12 G>A	11	113194708	113194708	G	A	TTC12	c.223-8G>A	NM_017868.4	NP_060338.3:p.?	NC_000011.9:g.113194708G>A	(Likely) benign	1 lab	cf108e5789
19:11688053 ACP5 C>T	19	11688053	11688053	C	T	ACP5	c.80G>A	NM_001611.5	NP_001602.1:p.(Arg27His)	NC_000019.9:g.11688053C>T	VUS	1 lab	cf13cdb9ea
1:145541479 ITGA10 G>T	1	145541479	145541479	G	T	ITGA10	c.3267G>T	NM_003637.5	NP_003628.2:p.(Glu1089Asp)	NC_000001.10:g.145541479G>T	(Likely) benign	1 lab	cf145ea30d
4:153273882 FBXW7 T>A	4	153273882	153273882	T	A	FBXW7	c.502-2606A>T	NM_001349798.2	NP_001336727.1:p.?	NC_000004.11:g.153273882T>A	(Likely) benign	1 lab	cf14ee0a72
12:88568425 TMTC3 TACTC>T	12	88568425	88568434	TACTC	T	TMTC3	c.1247_1250del	NM_181783.4	NP_861448.2:p.(Thr416IlefsTer3)	NC_000012.11:g.88568431_88568434del	VUS	1 lab	cf14fedc7e
15:89828438 FANCI A>G	15	89828438	89828438	A	G	FANCI	c.1810A>G	NM_001113378.2	NP_001106849.1:p.(Met604Val)	NC_000015.9:g.89828438A>G	VUS	1 lab	cf164af924
8:68107653 CSPP1 T>C	8	68107653	68107653	T	C	CSPP1	c.3506T>C	NM_001382391.1	NP_001369320.1:p.(Met1169Thr)	NC_000008.10:g.68107653T>C	(Likely) benign	1 lab	cf1685a46f
11:2154317 IGF2 G>T	11	2154317	2154317	G	T	IGF2	c.443C>A	NM_000612.6	NP_000603.1:p.(Ala148Glu)	NC_000011.9:g.2154317G>T	(Likely) benign	1 lab	cf1829b83c
8:35542130 UNC5D G>A	8	35542130	35542130	G	A	UNC5D	c.782G>A	NM_080872.4	NP_543148.2:p.(Trp261Ter)	NC_000008.10:g.35542130G>A	VUS	1 lab	cf19000295
3:12627232 RAF1 C>T	3	12627232	12627232	C	T	RAF1	c.1484G>A	NM_002880.4	NP_002871.1:p.(Arg495His)	NC_000003.11:g.12627232C>T	VUS	1 lab	cf1a6f9396
19:4053991 ZBTB7A T>C	19	4053991	4053991	T	C	ZBTB7A	c.1240A>G	NM_015898.4	NP_056982.1:p.(Ile414Val)	NC_000019.9:g.4053991T>C	VUS	1 lab	cf1c57fbb1
20:45015970 ELMO2 G>T	20	45015970	45015970	G	T	ELMO2	c.525+7C>A	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45015970G>T	(Likely) benign	1 lab	cf1cddf5c1
14:78183820 SLIRP C>G	14	78183820	78183820	C	G	SLIRP	c.265-19C>G	NM_031210.6	NP_112487.1:p.?	NC_000014.8:g.78183820C>G	(Likely) benign	1 lab	cf1f71f7f3
13:110826807 COL4A1 A>G	13	110826807	110826807	A	G	COL4A1	c.3392T>C	NM_001845.6	NP_001836.3:p.(Val1131Ala)	NC_000013.10:g.110826807A>G	VUS	1 lab	cf219a060b
12:52966390 KRT74 A>T	12	52966390	52966390	A	T	KRT74	c.533T>A	NM_175053.4	NP_778223.2:p.(Leu178Gln)	NC_000012.11:g.52966390A>T	(Likely) benign	1 lab	2b789eb61c
1:164789357 PBX1 G>A	1	164789357	164789357	G	A	PBX1	c.1046G>A	NM_002585.4	NP_002576.1:p.(Ser349Asn)	NC_000001.10:g.164789357G>A	VUS	1 lab	cf24af056c
13:95055370 GPC6 G>A	13	95055370	95055370	G	A	GPC6	c.1567G>A	NM_005708.5	NP_005699.1:p.(Asp523Asn)	NC_000013.10:g.95055370G>A	(Likely) benign	1 lab	cf26f6e631
5:180048169 FLT4 C>A	5	180048169	180048169	C	A	FLT4	c.2104G>T	NM_182925.5	NP_891555.2:p.(Ala702Ser)	NC_000005.9:g.180048169C>A	(Likely) benign	1 lab	cf286dd38b
9:77386857 TRPM6 T>TAA	9	77386857	77386859	T	TAA	TRPM6	c.3404-108_3404-107dup	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77386858_77386859dup	(Likely) benign	1 lab	2d6753baa3
5:140237739 PCDHA1 C>G	5	140237739	140237739	C	G	PCDHA1	c.2394+69470C>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140237739C>G	(Likely) benign	1 lab	cf291c0cab
9:80923397 PSAT1 G>A	9	80923397	80923397	G	A	PSAT1	c.638G>A	NM_058179.4	NP_478059.1:p.(Arg213His)	NC_000009.11:g.80923397G>A	VUS	1 lab	cf29a6fd0a
11:46001357 PHF21A T>C	11	46001357	46001357	T	C	PHF21A	c.314A>G	NM_001352027.3	NP_001338956.1:p.(His105Arg)	NC_000011.9:g.46001357T>C	VUS	1 lab	cf2a21aaf9
21:46925039 COL18A1 C>T	21	46925039	46925039	C	T	COL18A1	c.2869-9C>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46925039C>T	(Likely) benign	1 lab	cf2a768c99
4:3495193 DOK7 G>A	4	3495193	3495193	G	A	DOK7	c.1480G>A	NM_173660.5	NP_775931.3:p.(Val494Ile)	NC_000004.11:g.3495193G>A	(Likely) benign	1 lab	cf2a8c0c6f
2:220350140 SPEG CA>C	2	220350140	220350143	CA	C	SPEG	c.7685del	NM_005876.5	NP_005867.3:p.(Asn2562ThrfsTer57)	NC_000002.11:g.220350143del	(Likely) pathogenic	1 lab	cf2b606a80
2:149248059 MBD5 G>A	2	149248059	149248059	G	A	MBD5	c.4858G>A	NM_001378120.1	NP_001365049.1:p.(Asp1620Asn)	NC_000002.11:g.149248059G>A	(Likely) benign	1 lab	cf2cd021e1
17:36047350 HNF1B G>A	17	36047350	36047350	G	A	HNF1B	c.*25C>T	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047350G>A	(Likely) benign	1 lab	cf2d8e10e6
2:113514763 CKAP2L T>C	2	113514763	113514763	T	C	CKAP2L	c.185A>G	NM_152515.5	NP_689728.3:p.(Asn62Ser)	NC_000002.11:g.113514763T>C	(Likely) benign	1 lab	cf2f6f0094
11:78154810 NARS2 GA>G	11	78154810	78154822	GA	G	NARS2	c.1165-7del	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78154822del	(Likely) benign	1 lab	cf31b56636
5:90136330 ADGRV1 G>C	5	90136330	90136330	G	C	ADGRV1	c.16612-65G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90136330G>C	(Likely) benign	1 lab	2d688e0487
18:73000426 TSHZ1 A>G	18	73000426	73000426	A	G	TSHZ1	c.3064A>G	NM_001308210.2	NP_001295139.1:p.(Thr1022Ala)	NC_000018.9:g.73000426A>G	(Likely) benign	1 lab	cf33167769
17:78064010 CCDC40 A>G	17	78064010	78064010	A	G	CCDC40	c.2832+327A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064010A>G	(Likely) benign	1 lab	cf334cc2b4
2:74327893 TET3 C>CAGACTG	2	74327893	74327896	C	CAGACTG	TET3	c.3980_3981insACTGAG	NM_001287491.2	NP_001274420.1:p.(Asn1326_Ser1327insArgLeu)	NC_000002.11:g.74327895_74327896insACTGAG	VUS	1 lab	cf337ea98b
19:14517210 ADGRE5 T>G	19	14517210	14517210	T	G	ADGRE5	c.1889T>G	NM_078481.4	NP_510966.1:p.(Met630Arg)	NC_000019.9:g.14517210T>G	VUS	1 lab	cf3391a52f
X:135631043 VGLL1 TCTC>T	X	135631043	135631050	TCTC	T	VGLL1	c.515_517del	NM_016267.4	NP_057351.1:p.(Leu172del)	NC_000023.10:g.135631048_135631050del	VUS	1 lab	cf34b5d99d
16:2166560 PKD1 G>A	16	2166560	2166560	G	A	PKD1	c.1692C>T	NM_001009944.2	NP_001009944.2:p.(Asp564=)	NC_000016.9:g.2166560G>A	(Likely) benign	1 lab	2d68afec4f
21:47572869 FTCD A>G	21	47572869	47572869	A	G	FTCD	c.319T>C	NM_206965.2	NP_996848.1:p.(Cys107Arg)	NC_000021.8:g.47572869A>G	VUS	1 lab	cf35879283
X:154221393 F8 C>G	X	154221393	154221393	C	G	F8	c.419G>C	NM_000132.4	NP_000123.1:p.(Arg140Thr)	NC_000023.10:g.154221393C>G	(Likely) benign	1 lab	cf3645a0fa
3:125825978 ALDH1L1 C>T	3	125825978	125825978	C	T	ALDH1L1	c.2453+6G>A	NM_012190.4	NP_036322.2:p.?	NC_000003.11:g.125825978C>T	(Likely) benign	1 lab	cf3958d89a
14:71413782 PCNX1 C>G	14	71413782	71413782	C	G	PCNX1	c.304C>G	NM_014982.3	NP_055797.2:p.(Arg102Gly)	NC_000014.8:g.71413782C>G	(Likely) benign	1 lab	cf3a216973
16:89622524 SPG7 T>G	16	89622524	89622524	T	G	SPG7	c.2182-771T>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89622524T>G	(Likely) benign	1 lab	2d690e0f8a
X:41205098 DDX3X T>G	X	41205098	41205098	T	G	DDX3X	c.1315+297T>G	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41205098T>G	(Likely) benign	1 lab	cf3ba5fb7f
2:20147930 WDR35 T>A	2	20147930	20147930	T	A	WDR35	c.1519A>T	NM_020779.4	NP_065830.2:p.(Ile507Phe)	NC_000002.11:g.20147930T>A	VUS	1 lab	cf3d1a744b
16:3779042 CREBBP C>A	16	3779042	3779042	C	A	CREBBP	c.6006G>T	NM_004380.3	NP_004371.2:p.(Val2002=)	NC_000016.9:g.3779042C>A	(Likely) benign	1 lab	cf3d2d22c1
17:78064096 CCDC40 A>G	17	78064096	78064096	A	G	CCDC40	c.2832+413A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064096A>G	(Likely) benign	1 lab	cf3d88635f
3:12475438 PPARG C>T	3	12475438	12475438	C	T	PPARG	c.1222C>T	NM_138711.6	NP_619725.3:p.(Gln408Ter)	NC_000003.11:g.12475438C>T	(Likely) pathogenic	1 lab	cf3eb27472
21:47855959 PCNT C>T	21	47855959	47855959	C	T	PCNT	c.8894C>T	NM_006031.6	NP_006022.3:p.(Ala2965Val)	NC_000021.8:g.47855959C>T	(Likely) benign	1 lab	cf40d6d28e
5:1280380 TERT C>T	5	1280380	1280380	C	T	TERT	c.1843G>A	NM_198253.3	NP_937983.2:p.(Ala615Thr)	NC_000005.9:g.1280380C>T	(Likely) benign	1 lab	cf415fdf8d
15:43695895 TP53BP1 G>T	15	43695895	43695895	G	T	TP53BP1	c.*3686C>A	NM_001141980.3	NP_001135452.1:p.?	NC_000015.9:g.43695895G>T	(Likely) pathogenic	1 lab	cf4183949b
1:244217705 ZBTB18 C>T	1	244217705	244217705	C	T	ZBTB18	c.629C>T	NM_205768.3	NP_991331.1:p.(Ala210Val)	NC_000001.10:g.244217705C>T	(Likely) benign	1 lab	cf4220781f
11:118374163 KMT2A G>A	11	118374163	118374163	G	A	KMT2A	c.7556G>A	NM_001197104.2	NP_001184033.1:p.(Arg2519Gln)	NC_000011.9:g.118374163G>A	(Likely) benign	1 lab	cf42d98ea9
3:134278147 CEP63 G>T	3	134278147	134278147	G	T	CEP63	c.1829G>T	NM_001353108.3	NP_001340037.1:p.(Arg610Met)	NC_000003.11:g.134278147G>T	(Likely) benign	1 lab	cf43a5039b
9:139402455 NOTCH1 G>T	9	139402455	139402455	G	T	NOTCH1	c.3462C>A	NM_017617.5	NP_060087.3:p.(Cys1154Ter)	NC_000009.11:g.139402455G>T	(Likely) pathogenic	1 lab	cf468d149a
19:48198651 BICRA A>G	19	48198651	48198651	A	G	BICRA	c.3106A>G	NM_001394372.1	NP_001381301.1:p.(Lys1036Glu)	NC_000019.9:g.48198651A>G	VUS	1 lab	cf47c78e5d
4:155507560 FGA TTCCAGAGCTCCCAGAGTTCCAGCTTCCAGTACTTCCAGGTCCAGAGCTCCCAGGTTTCCAGGTTGCAGTCCCTCCAGTCCCAGAGCTCCCAGGGTTTCGGTTTCCAGTACTTCCAGG>T	4	155507560	155507706	TTCCAGAGCTCCCAGAGTTCCAGCTTCCAGTACTTCCAGGTCCAGAGCTCCCAGGTTTCCAGGTTGCAGTCCCTCCAGTCCCAGAGCTCCCAGGGTTTCGGTTTCCAGTACTTCCAGG	T	FGA	c.904_1020del	NM_021871.4	NP_068657.1:p.(Pro302_Gly340del)	NC_000004.11:g.155507590_155507706del	(Likely) benign	1 lab	cf4830eec3
17:3851037 ATP2A3 G>A	17	3851037	3851037	G	A	ATP2A3	c.743C>T	NM_005173.4	NP_005164.2:p.(Pro248Leu)	NC_000017.10:g.3851037G>A	VUS	1 lab	cf4897474e
19:55738900 TMEM86B G>A	19	55738900	55738900	G	A	TMEM86B	c.330C>T	NM_173804.5	NP_776165.3:p.(Leu110=)	NC_000019.9:g.55738900G>A	(Likely) benign	1 lab	cf493631ae
4:39230114 WDR19 G>A	4	39230114	39230114	G	A	WDR19	c.1786G>A	NM_025132.4	NP_079408.3:p.(Val596Ile)	NC_000004.11:g.39230114G>A	VUS	1 lab	cf4a51d740
6:1612017 FOXC1 A>ACGG	6	1612017	1612041	A	ACGG	FOXC1	c.1359_1361dup	NM_001453.3	NP_001444.2:p.(Gly456dup)	NC_000006.11:g.1612039_1612041dup	VUS	1 lab	cf4a96285b
11:118307463 KMT2A C>A	11	118307463	118307463	C	A	KMT2A	c.236C>A	NM_001197104.2	NP_001184033.1:p.(Ala79Asp)	NC_000011.9:g.118307463C>A	(Likely) benign	1 lab	cf4abbcca2
16:3075807 THOC6 G>T	16	3075807	3075807	G	T	THOC6	c.138G>T	NM_024339.5	NP_077315.2:p.(Gly46=)	NC_000016.9:g.3075807G>T	VUS	1 lab	cf4b13869a
3:186504908 EIF4A2 C>T	3	186504908	186504908	C	T	EIF4A2	c.772-8C>T	NM_001967.4	NP_001958.2:p.?	NC_000003.11:g.186504908C>T	(Likely) benign	1 lab	cf4b8f4c07
16:3632696 SLX4 T>G	16	3632696	3632696	T	G	SLX4	c.5154-2A>C	NM_032444.4	NP_115820.2:p.?	NC_000016.9:g.3632696T>G	VUS	1 lab	cf4bcb1c9e
16:88779817 CTU2 C>G	16	88779817	88779817	C	G	CTU2	c.835C>G	NM_001012759.3	NP_001012777.1:p.(Leu279Val)	NC_000016.9:g.88779817C>G	VUS	1 lab	cf4cdde902
4:159618709 ETFDH A>T	4	159618709	159618709	A	T	ETFDH	c.832-2A>T	NM_004453.4	NP_004444.2:p.?	NC_000004.11:g.159618709A>T	(Likely) benign	1 lab	cf4ce0f58a
19:36209050 KMT2B C>T	19	36209050	36209050	C	T	KMT2B	c.130C>T	NM_014727.3	NP_055542.1:p.(Arg44Trp)	NC_000019.9:g.36209050C>T	(Likely) benign	1 lab	cf4d9169ce
19:7117408 INSR G>A	19	7117408	7117408	G	A	INSR	c.3808C>T	NM_000208.4	NP_000199.2:p.(Arg1270Cys)	NC_000019.9:g.7117408G>A	VUS	1 lab	cf4e65baa6
4:6064139 JAKMIP1 C>T	4	6064139	6064139	C	T	JAKMIP1	c.1460G>A	NM_001099433.2	NP_001092903.1:p.(Arg487His)	NC_000004.11:g.6064139C>T	VUS	1 lab	cf4ea23819
1:24019245 RPL11 C>T	1	24019245	24019245	C	T	RPL11	c.153C>T	NM_000975.5	NP_000966.2:p.(Ser51=)	NC_000001.10:g.24019245C>T	(Likely) benign	1 lab	cf525fb23a
6:129723561 LAMA2 G>T	6	129723561	129723561	G	T	LAMA2	c.5655G>T	NM_000426.4	NP_000417.3:p.(Lys1885Asn)	NC_000006.11:g.129723561G>T	(Likely) benign	1 lab	cf53f4483d
8:6338339 MCPH1 G>A	8	6338339	6338339	G	A	MCPH1	c.2078G>A	NM_024596.5	NP_078872.3:p.(Arg693His)	NC_000008.10:g.6338339G>A	VUS	1 lab	cf5425e6d9
22:19753481 TBX1 G>T	22	19753481	19753481	G	T	TBX1	c.992G>T	NM_001379200.1	NP_001366129.1:p.(Arg331Leu)	NC_000022.10:g.19753481G>T	(Likely) benign	1 lab	cf5445f63b
12:2272791 CACNA1C G>A	12	2272791	2272791	G	A	CACNA1C	c.477+43195G>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2272791G>A	(Likely) benign	1 lab	cf5489b8da
2:69472455 ANTXR1 CT>C	2	69472455	69472456	CT	C	ANTXR1	c.1534del	NM_032208.3	NP_115584.1:p.(Tyr512ThrfsTer82)	NC_000002.11:g.69472456del	VUS	1 lab	cf5553f437
7:44185707 GCK C>A	7	44185707	44185707	C	A	GCK	c.1019+355G>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44185707C>A	VUS	1 lab	cf57dab648
6:87966765 ZNF292 C>G	6	87966765	87966765	C	G	ZNF292	c.3418C>G	NM_015021.3	NP_055836.1:p.(Gln1140Glu)	NC_000006.11:g.87966765C>G	(Likely) benign	1 lab	cf57e22c1b
22:42609763 TCF20 C>G	22	42609763	42609763	C	G	TCF20	c.1549G>C	NM_001378418.1	NP_001365347.1:p.(Glu517Gln)	NC_000022.10:g.42609763C>G	(Likely) benign	1 lab	cf5ba373d5
18:57122191 CCBE1 A>G	18	57122191	57122191	A	G	CCBE1	c.554-8T>C	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57122191A>G	(Likely) benign	1 lab	cf5bed1b5a
5:150516888 ANXA6 G>A	5	150516888	150516888	G	A	ANXA6	c.319-6C>T	NM_001155.5	NP_001146.2:p.?	NC_000005.9:g.150516888G>A	(Likely) benign	1 lab	cf5c2cb36e
17:1173980 BHLHA9 CG>C	17	1173980	1173981	CG	C	BHLHA9	c.124del	NM_001164405.2	NP_001157877.1:p.(Ala42LeufsTer38)	NC_000017.10:g.1173981del	VUS	1 lab	cf5c5ee380
20:60885978 LAMA5 G>T	20	60885978	60885978	G	T	LAMA5	c.10261C>A	NM_005560.6	NP_005551.3:p.(Arg3421=)	NC_000020.10:g.60885978G>T	(Likely) benign	1 lab	cf5f610d59
5:122506561 PRDM6 G>A	5	122506561	122506561	G	A	PRDM6	c.1255G>A	NM_001136239.4	NP_001129711.1:p.(Val419Ile)	NC_000005.9:g.122506561G>A	(Likely) benign	1 lab	cf60bb4eb8
5:90124906 ADGRV1 G>A	5	90124906	90124906	G	A	ADGRV1	c.16514G>A	NM_032119.4	NP_115495.3:p.(Arg5505Gln)	NC_000005.9:g.90124906G>A	VUS	1 lab	cf620fd465
13:20656240 ZMYM2 C>T	13	20656240	20656240	C	T	ZMYM2	c.3538C>T	NM_197968.4	NP_932072.1:p.(Arg1180Ter)	NC_000013.10:g.20656240C>T	(Likely) pathogenic	1 lab	cf632fa75e
10:91484794 KIF20B A>T	10	91484794	91484794	A	T	KIF20B	c.1880A>T	NM_001284259.2	NP_001271188.1:p.(Glu627Val)	NC_000010.10:g.91484794A>T	VUS	1 lab	cf6441338a
1:22161376 HSPG2 C>T	1	22161376	22161376	C	T	HSPG2	c.10516G>A	NM_005529.7	NP_005520.4:p.(Val3506Met)	NC_000001.10:g.22161376C>T	VUS	1 lab	cf660aab3c
10:31799776 ZEB1 G>T	10	31799776	31799776	G	T	ZEB1	c.660G>T	NM_001174096.2	NP_001167567.1:p.(Met220Ile)	NC_000010.10:g.31799776G>T	VUS	1 lab	cf671b036b
13:111160474 COL4A2 C>T	13	111160474	111160474	C	T	COL4A2	c.4787C>T	NM_001846.4	NP_001837.2:p.(Pro1596Leu)	NC_000013.10:g.111160474C>T	VUS	1 lab	cf6b81f2a3
17:9511470 CFAP52 G>A	17	9511470	9511470	G	A	CFAP52	c.788G>A	NM_145054.5	NP_659491.4:p.(Gly263Asp)	NC_000017.10:g.9511470G>A	(Likely) benign	1 lab	cf6d511792
19:38964339 RYR1 C>T	19	38964339	38964339	C	T	RYR1	c.4088C>T	NM_000540.3	NP_000531.2:p.(Ala1363Val)	NC_000019.9:g.38964339C>T	(Likely) benign	1 lab	cf6d6e7b23
19:5131411 KDM4B G>A	19	5131411	5131411	G	A	KDM4B	c.1640G>A	NM_015015.3	NP_055830.1:p.(Cys547Tyr)	NC_000019.9:g.5131411G>A	(Likely) benign	1 lab	cf6e81bef3
1:175372295 TNR C>T	1	175372295	175372295	C	T	TNR	c.957G>A	NM_003285.3	NP_003276.3:p.(Gln319=)	NC_000001.10:g.175372295C>T	VUS	1 lab	cf711e5871
5:140799269 PCDHGB4 G>A	5	140799269	140799269	G	A	PCDHGB4	c.2397+29421G>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140799269G>A	VUS	1 lab	cf71919dcc
7:12254555 TMEM106B G>C	7	12254555	12254555	G	C	TMEM106B	c.119G>C	NM_001134232.2	NP_001127704.1:p.(Gly40Ala)	NC_000007.13:g.12254555G>C	VUS	1 lab	cf7343ff54
10:89504824 PAPSS2 T>C	10	89504824	89504824	T	C	PAPSS2	c.1557T>C	NM_001015880.2	NP_001015880.1:p.(Pro519=)	NC_000010.10:g.89504824T>C	(Likely) benign	1 lab	cf7392d7dd
17:34171965 TAF15 TGGTGGCGGCTATGGAGGAGACCGA>T	17	34171965	34171994	TGGTGGCGGCTATGGAGGAGACCGA	T	TAF15	c.1668_1691del	NM_139215.3	NP_631961.1:p.(Gly565_Gly572del)	NC_000017.10:g.34171971_34171994del	(Likely) benign	1 lab	cf73a735be
12:23999045 SOX5 C>T	12	23999045	23999045	C	T	SOX5	c.353G>A	NM_006940.6	NP_008871.3:p.(Arg118Gln)	NC_000012.11:g.23999045C>T	VUS	1 lab	cf763ced37
15:69733111 KIF23 C>T	15	69733111	69733111	C	T	KIF23	c.2114C>T	NM_001367805.3	NP_001354734.1:p.(Ser705Phe)	NC_000015.9:g.69733111C>T	(Likely) benign	1 lab	cf7666633b
18:33069347 INO80C C>T	18	33069347	33069347	C	T	INO80C	c.156+8336G>A	NM_194281.4	NP_919257.2:p.?	NC_000018.9:g.33069347C>T	VUS	1 lab	cf772f1fc6
2:160755546 LY75 T>C	2	160755546	160755546	T	C	LY75	c.119A>G	NM_002349.4	NP_002340.2:p.(His40Arg)	NC_000002.11:g.160755546T>C	VUS	1 lab	cf777b82d8
2:47637420 MSH2 C>G	2	47637420	47637420	C	G	MSH2	c.554C>G	NM_000251.3	NP_000242.1:p.(Ser185Cys)	NC_000002.11:g.47637420C>G	VUS	1 lab	2b81ca2355
8:144993491 PLEC G>A	8	144993491	144993491	G	A	PLEC	c.10498C>T	NM_201384.3	NP_958786.1:p.(Arg3500Cys)	NC_000008.10:g.144993491G>A	VUS	1 lab	cf7980cc9a
19:13394157 CACNA1A A>T	19	13394157	13394157	A	T	CACNA1A	c.3746T>A	NM_001127222.2	NP_001120694.1:p.(Ile1249Asn)	NC_000019.9:g.13394157A>T	VUS	1 lab	cf7ae031d4
19:18899413 COMP C>T	19	18899413	18899413	C	T	COMP	c.750G>A	NM_000095.3	NP_000086.2:p.(Ser250=)	NC_000019.9:g.18899413C>T	(Likely) benign	1 lab	cf7b1e393f
17:65850761 BPTF C>G	17	65850761	65850761	C	G	BPTF	c.1319C>G	NM_182641.4	NP_872579.2:p.(Pro440Arg)	NC_000017.10:g.65850761C>G	VUS	1 lab	cf7b87b29e
5:71491534 MAP1B CATT>C	5	71491534	71491538	CATT	C	MAP1B	c.2354_2356del	NM_005909.5	NP_005900.2:p.(Ile785del)	NC_000005.9:g.71491536_71491538del	(Likely) benign	1 lab	cf7ccf119a
7:5385432 TNRC18 G>A	7	5385432	5385432	G	A	TNRC18	c.5480C>T	NM_001080495.3	NP_001073964.2:p.(Ser1827Leu)	NC_000007.13:g.5385432G>A	VUS	1 lab	cf7db2f7de
13:39357429 FREM2 A>C	13	39357429	39357429	A	C	FREM2	c.5767+97A>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39357429A>C	(Likely) benign	1 lab	2d6e568e11
19:17767114 UNC13A C>A	19	17767114	17767114	C	A	UNC13A	c.861G>T	NM_001080421.3	NP_001073890.2:p.(Leu287=)	NC_000019.9:g.17767114C>A	(Likely) benign	1 lab	cf81edc508
9:135946737 CEL G>C	9	135946737	135946737	G	C	CEL	c.1848G>C	NM_001807.6	NP_001798.3:p.(Pro616=)	NC_000009.11:g.135946737G>C	(Likely) benign	1 lab	cf82d8613c
11:65480970 KAT5 C>T	11	65480970	65480970	C	T	KAT5	c.536C>T	NM_182710.3	NP_874369.1:p.(Ser179Leu)	NC_000011.9:g.65480970C>T	VUS	1 lab	cf834febb3
5:102363945 PAM A>T	5	102363945	102363945	A	T	PAM	c.2743+3A>T	NM_001177306.2	NP_001170777.1:p.?	NC_000005.9:g.102363945A>T	VUS	1 lab	cf843468dc
12:52910645 KRT5 C>G	12	52910645	52910645	C	G	KRT5	c.1219-4G>C	NM_000424.4	NP_000415.2:p.?	NC_000012.11:g.52910645C>G	(Likely) benign	1 lab	2b84847094
6:31930260 SKIC2 TC>T	6	31930260	31930262	TC	T	SKIC2	c.1111del	NM_006929.5	NP_008860.4:p.(Arg371GlyfsTer28)	NC_000006.11:g.31930262del	VUS	1 lab	cf85ec1dea
2:178386017 AGPS C>T	2	178386017	178386017	C	T	AGPS	c.1718C>T	NM_003659.4	NP_003650.1:p.(Ala573Val)	NC_000002.11:g.178386017C>T	VUS	1 lab	cf87db80bf
11:107396298 ALKBH8 T>C	11	107396298	107396298	T	C	ALKBH8	c.899A>G	NM_138775.3	NP_620130.2:p.(Asp300Gly)	NC_000011.9:g.107396298T>C	VUS	1 lab	cf891041fc
7:22270505 RAPGEF5 T>C	7	22270505	22270505	T	C	RAPGEF5	c.830A>G	NM_012294.5	NP_036426.4:p.(His277Arg)	NC_000007.13:g.22270505T>C	VUS	1 lab	cf8d15cbde
3:58063008 FLNB C>G	3	58063008	58063008	C	G	FLNB	c.528C>G	NM_001457.4	NP_001448.2:p.(Asp176Glu)	NC_000003.11:g.58063008C>G	VUS	1 lab	cf8e01f4e8
19:15299829 NOTCH3 A>G	19	15299829	15299829	A	G	NOTCH3	c.1349T>C	NM_000435.3	NP_000426.2:p.(Ile450Thr)	NC_000019.9:g.15299829A>G	VUS	1 lab	cf8eeaf5d6
14:21869082 CHD8 T>C	14	21869082	21869082	T	C	CHD8	c.4322A>G	NM_001170629.2	NP_001164100.1:p.(Tyr1441Cys)	NC_000014.8:g.21869082T>C	VUS	1 lab	cf90b09039
10:32320119 KIF5B ACTT>A	10	32320119	32320128	ACTT	A	KIF5B	c.1460_1462del	NM_004521.3	NP_004512.1:p.(Glu487del)	NC_000010.10:g.32320126_32320128del	VUS	1 lab	cf9333311a
X:132352071 TFDP3 C>T	X	132352071	132352071	C	T	TFDP3	c.217G>A	NM_016521.3	NP_057605.3:p.(Val73Ile)	NC_000023.10:g.132352071C>T	(Likely) benign	1 lab	cf936316cc
3:14508105 SLC6A6 G>A	3	14508105	14508105	G	A	SLC6A6	c.814G>A	NM_003043.6	NP_003034.2:p.(Ala272Thr)	NC_000003.11:g.14508105G>A	VUS	1 lab	2b8653966e
15:74483178 STRA6 T>C	15	74483178	74483178	T	C	STRA6	c.927+3A>G	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74483178T>C	VUS	1 lab	cf946a82cd
7:76141206 UPK3B G>A	7	76141206	76141206	G	A	UPK3B	c.461+7G>A	NM_001347684.2	NP_001334613.1:p.?	NC_000007.13:g.76141206G>A	VUS	1 lab	cf94c3d36e
7:147092799 CNTNAP2 T>A	7	147092799	147092799	T	A	CNTNAP2	c.1597T>A	NM_014141.6	NP_054860.1:p.(Leu533Ile)	NC_000007.13:g.147092799T>A	(Likely) benign	1 lab	cf9546aef4
20:62046289 KCNQ2 T>G	20	62046289	62046289	T	G	KCNQ2	c.1492A>C	NM_172107.4	NP_742105.1:p.(Ile498Leu)	NC_000020.10:g.62046289T>G	VUS	1 lab	cf971bd377
15:28377789 HERC2 G>A	15	28377789	28377789	G	A	HERC2	c.12408+10C>T	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28377789G>A	VUS	1 lab	cf9922d012
6:105606440 POPDC3 G>A	6	105606440	105606440	G	A	POPDC3	c.781C>T	NM_022361.5	NP_071756.2:p.(Arg261Trp)	NC_000006.11:g.105606440G>A	(Likely) benign	1 lab	cf99249981
4:77661986 SHROOM3 G>T	4	77661986	77661986	G	T	SHROOM3	c.2660G>T	NM_020859.4	NP_065910.3:p.(Arg887Leu)	NC_000004.11:g.77661986G>T	VUS	1 lab	cf997594fa
22:31336016 MORC2 G>A	22	31336016	31336016	G	A	MORC2	c.917C>T	NM_001303256.3	NP_001290185.1:p.(Ala306Val)	NC_000022.10:g.31336016G>A	VUS	1 lab	cf9acedb85
X:106845966 FRMPD3 G>A	X	106845966	106845966	G	A	FRMPD3	c.4697G>A	NM_001388459.1	NP_001375388.1:p.(Arg1566His)	NC_000023.10:g.106845966G>A	VUS	1 lab	cf9afbef53
15:42686531 CAPN3 G>T	15	42686531	42686531	G	T	CAPN3	c.1107G>T	NM_000070.3	NP_000061.1:p.(Trp369Cys)	NC_000015.9:g.42686531G>T	VUS	1 lab	cf9f24c116
1:230841780 AGT G>A	1	230841780	230841780	G	A	AGT	c.996C>T	NM_001384479.1	NP_001371408.1:p.(Cys332=)	NC_000001.10:g.230841780G>A	(Likely) benign	1 lab	cf9f5c0d15
6:152639392 SYNE1 C>A	6	152639392	152639392	C	A	SYNE1	c.16396G>T	NM_182961.4	NP_892006.3:p.(Gly5466Ter)	NC_000006.11:g.152639392C>A	VUS	1 lab	cf9f73ceca
19:55670467 DNAAF3 G>A	19	55670467	55670467	G	A	DNAAF3	c.1589C>T	NM_001256715.2	NP_001243644.1:p.(Pro530Leu)	NC_000019.9:g.55670467G>A	(Likely) benign	1 lab	cfa29bd463
11:124744033 ROBO3 G>A	11	124744033	124744033	G	A	ROBO3	c.1852G>A	NM_022370.4	NP_071765.2:p.(Gly618Ser)	NC_000011.9:g.124744033G>A	(Likely) benign	1 lab	cfa48167bd
1:162722987 DDR2 G>T	1	162722987	162722987	G	T	DDR2	c.185G>T	NM_006182.4	NP_006173.2:p.(Arg62Met)	NC_000001.10:g.162722987G>T	VUS	1 lab	cfa54227a7
1:39833899 MACF1 G>A	1	39833899	39833899	G	A	MACF1	c.12851G>A	NM_001394062.1	NP_001380991.1:p.(Gly4284Asp)	NC_000001.10:g.39833899G>A	VUS	1 lab	cfa759a396
1:152957832 SPRR1A C>A	1	152957832	152957832	C	A	SPRR1A	c.126C>A	NM_005987.4	NP_005978.2:p.(His42Gln)	NC_000001.10:g.152957832C>A	(Likely) benign	1 lab	cfacd40048
9:35808524 NPR2 G>A	9	35808524	35808524	G	A	NPR2	c.2731G>A	NM_003995.4	NP_003986.2:p.(Ala911Thr)	NC_000009.11:g.35808524G>A	VUS	1 lab	cfad444573
1:978974 AGRN G>A	1	978974	978974	G	A	AGRN	c.1660G>A	NM_198576.4	NP_940978.2:p.(Val554Met)	NC_000001.10:g.978974G>A	(Likely) benign	1 lab	cfaecf5a24
6:85446701 TBX18 G>A	6	85446701	85446701	G	A	TBX18	c.1526C>T	NM_001080508.3	NP_001073977.1:p.(Ala509Val)	NC_000006.11:g.85446701G>A	VUS	1 lab	cfb1bbb657
19:18368801 IQCN C>T	19	18368801	18368801	C	T	IQCN	c.3293G>A	NM_001145304.2	NP_001138776.1:p.(Arg1098Gln)	NC_000019.9:g.18368801C>T	(Likely) benign	1 lab	cfb2f19d7b
2:48027802 MSH6 C>T	2	48027802	48027802	C	T	MSH6	c.2680C>T	NM_000179.3	NP_000170.1:p.(Gln894Ter)	NC_000002.11:g.48027802C>T	(Likely) pathogenic	1 lab	cfb34d9404
3:50331107 HYAL3 C>T	3	50331107	50331107	C	T	HYAL3	c.940G>A	NM_003549.4	NP_003540.2:p.(Ala314Thr)	NC_000003.11:g.50331107C>T	VUS	1 lab	cfb48346ed
19:50984241 EMC10 G>C	19	50984241	50984241	G	C	EMC10	c.678+7G>C	NM_206538.4	NP_996261.1:p.?	NC_000019.9:g.50984241G>C	(Likely) benign	1 lab	cfb5cfa5a4
15:89873337 POLG T>A	15	89873337	89873337	T	A	POLG	c.830A>T	NM_002693.3	NP_002684.1:p.(His277Leu)	NC_000015.9:g.89873337T>A	(Likely) pathogenic	1 lab	cfb6fded44
3:69050874 EOGT A>G	3	69050874	69050874	A	G	EOGT	c.621-9T>C	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69050874A>G	(Likely) benign	1 lab	cfb7ea86dd
15:48797228 FBN1 A>G	15	48797228	48797228	A	G	FBN1	c.1954T>C	NM_000138.5	NP_000129.3:p.(Cys652Arg)	NC_000015.9:g.48797228A>G	(Likely) pathogenic	1 lab	cfb9a88a9d
5:38493782 LIFR G>A	5	38493782	38493782	G	A	LIFR	c.1991C>T	NM_001127671.2	NP_001121143.1:p.(Ser664Leu)	NC_000005.9:g.38493782G>A	(Likely) benign	1 lab	cfb9d218a6
6:152265443 ESR1 A>G	6	152265443	152265443	A	G	ESR1	c.896A>G	NM_000125.4	NP_000116.2:p.(Lys299Arg)	NC_000006.11:g.152265443A>G	VUS	1 lab	cfbb5fbc7c
16:2094680 NTHL1 G>A	16	2094680	2094680	G	A	NTHL1	c.476C>T	NM_002528.7	NP_002519.2:p.(Thr159Ile)	NC_000016.9:g.2094680G>A	VUS	1 lab	cfbc37c211
7:44187451 GCK G>A	7	44187451	44187451	G	A	GCK	c.680-19C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44187451G>A	(Likely) benign	1 lab	cfbc47f1ba
11:6654102 DCHS1 G>A	11	6654102	6654102	G	A	DCHS1	c.2641C>T	NM_003737.4	NP_003728.1:p.(Arg881Cys)	NC_000011.9:g.6654102G>A	VUS	1 lab	cfbc52a0c2
1:6240053 CHD5 G>T	1	6240053	6240053	G	T	CHD5	c.31C>A	NM_015557.3	NP_056372.1:p.(Leu11Met)	NC_000001.10:g.6240053G>T	VUS	1 lab	cfbd9e7da7
1:151373709 PSMB4 C>G	1	151373709	151373709	C	G	PSMB4	c.577-6C>G	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151373709C>G	(Likely) benign	1 lab	cfbe0b65eb
1:197390154 CRB1 A>G	1	197390154	197390154	A	G	CRB1	c.1196A>G	NM_201253.3	NP_957705.1:p.(Asn399Ser)	NC_000001.10:g.197390154A>G	(Likely) benign	1 lab	cfbfb1e82a
19:12981985 MAST1 AGGT>A	19	12981985	12981990	AGGT	A	MAST1	c.3263+2_3263+4del	NM_014975.3	NP_055790.1:p.?	NC_000019.9:g.12981988_12981990del	VUS	1 lab	cfbfb63092
12:106760433 POLR3B C>A	12	106760433	106760433	C	A	POLR3B	c.163-3C>A	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106760433C>A	(Likely) benign	1 lab	cfbfc270bc
19:39055836 RYR1 ACGGCGG>A	19	39055836	39055848	ACGGCGG	A	RYR1	c.12869_12874del	NM_000540.3	NP_000531.2:p.(Ala4290_Ala4291del)	NC_000019.9:g.39055843_39055848del	VUS	1 lab	cfc420ae3d
3:3189677 TRNT1 T>C	3	3189677	3189677	T	C	TRNT1	c.1144T>C	NM_182916.3	NP_886552.3:p.(Ser382Pro)	NC_000003.11:g.3189677T>C	VUS	1 lab	cfc436c5af
15:41866015 TYRO3 T>TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	15	41866015	41866016	T	TATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	TYRO3	c.2282+2_2282+3insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41866015_41866016insATGATCTCATGTACCAGTGCTGGAGTGCTGACCCCAAGCAGCGCCCGAGCTTTACTTGTCTGC	(Likely) benign	1 lab	cfc477df55
10:8097700 GATA3 C>A	10	8097700	8097700	C	A	GATA3	c.82C>A	NM_001002295.2	NP_001002295.1:p.(His28Asn)	NC_000010.10:g.8097700C>A	VUS	1 lab	2d6e63d49f
8:90965582 NBN T>C	8	90965582	90965582	T	C	NBN	c.1735A>G	NM_002485.5	NP_002476.2:p.(Lys579Glu)	NC_000008.10:g.90965582T>C	VUS	1 lab	cfc70b5a29
11:17450187 ABCC8 A>C	11	17450187	17450187	A	C	ABCC8	c.1848T>G	NM_000352.6	NP_000343.2:p.(Ser616Arg)	NC_000011.9:g.17450187A>C	VUS	1 lab	cfc71e6a50
18:59828511 PIGN A>T	18	59828511	59828511	A	T	PIGN	c.76T>A	NM_176787.5	NP_789744.1:p.(Ser26Thr)	NC_000018.9:g.59828511A>T	VUS	1 lab	cfc7390cb6
16:86602050 FOXC2 G>C	16	86602050	86602050	G	C	FOXC2	c.1109G>C	NM_005251.3	NP_005242.1:p.(Ser370Thr)	NC_000016.9:g.86602050G>C	VUS	1 lab	cfc75a78cd
15:72063446 THSD4 G>A	15	72063446	72063446	G	A	THSD4	c.1733G>A	NM_001286429.2	NP_001273358.1:p.(Arg578Gln)	NC_000015.9:g.72063446G>A	(Likely) benign	1 lab	2b88439a70
16:2152889 PKD1 C>T	16	2152889	2152889	C	T	PKD1	c.8874G>A	NM_001009944.3	NP_001009944.3:p.(Ser2958=)	NC_000016.9:g.2152889C>T	(Likely) benign	1 lab	cfc9c64d5f
9:138662266 KCNT1 C>T	9	138662266	138662266	C	T	KCNT1	c.1742C>T	NM_020822.3	NP_065873.2:p.(Thr581Ile)	NC_000009.11:g.138662266C>T	VUS	1 lab	cfc9da0f17
11:111742236 ALG9 C>T	11	111742236	111742236	C	T	ALG9	c.-30G>A	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111742236C>T	VUS	1 lab	cfcdb885ba
13:21714820 SAP18 G>GACATGCCCACTGTTGCTACGGGTCTTCACCACCAATAACGGCCGCCACCACCGAATGGAC	13	21714820	21714821	G	GACATGCCCACTGTTGCTACGGGTCTTCACCACCAATAACGGCCGCCACCACCGAATGGAC	SAP18	c.129_129+1insACATGCCCACTGTTGCTACGGGTCTTCACCACCAATAACGGCCGCCACCACCGAATGGAC	NM_005870.5	NP_005861.2:p.?	NC_000013.10:g.21714820_21714821insACATGCCCACTGTTGCTACGGGTCTTCACCACCAATAACGGCCGCCACCACCGAATGGAC	(Likely) benign	1 lab	cfcf00c022
21:47536704 COL6A2 CA>C	21	47536704	47536706	CA	C	COL6A2	c.977del	NM_001849.4	NP_001840.3:p.(Lys326ArgfsTer82)	NC_000021.8:g.47536706del	VUS	1 lab	cfcfd5d791
4:79340218 FRAS1 G>A	4	79340218	79340218	G	A	FRAS1	c.4540+1G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79340218G>A	VUS	1 lab	cfd080e49c
19:20807133 ZNF626 GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA>G	19	20807133	20807345	GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA	G	ZNF626	c.1383_1549del	NM_001076675.3	NP_001070143.1:p.(Cys464ArgfsTer78)	NC_000019.9:g.20807179_20807345del	(Likely) benign	1 lab	cfd10d02ae
1:205896395 SLC26A9 G>C	1	205896395	205896395	G	C	SLC26A9	c.1237C>G	NM_052934.4	NP_443166.1:p.(Leu413Val)	NC_000001.10:g.205896395G>C	(Likely) benign	1 lab	cfd1409452
4:107249280 AIMP1 A>G	4	107249280	107249280	A	G	AIMP1	c.271A>G	NM_001142416.2	NP_001135888.2:p.(Met91Val)	NC_000004.11:g.107249280A>G	VUS	1 lab	cfd146a53e
17:48434482 XYLT2 T>C	17	48434482	48434482	T	C	XYLT2	c.1810T>C	NM_022167.4	NP_071450.2:p.(Tyr604His)	NC_000017.10:g.48434482T>C	VUS	1 lab	cfd15a9b01
X:32408187 DMD C>A	X	32408187	32408187	C	A	DMD	c.4344+1G>T	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32408187C>A	(Likely) pathogenic	1 lab	2d6edbdc9f
X:48980042 GPKOW G>C	X	48980042	48980042	G	C	GPKOW	c.31C>G	NM_015698.6	NP_056513.2:p.(Leu11Val)	NC_000023.10:g.48980042G>C	(Likely) benign	1 lab	cfd3d80c79
5:125918618 ALDH7A1 G>C	5	125918618	125918618	G	C	ALDH7A1	c.442C>G	NM_001182.5	NP_001173.2:p.(Gln148Glu)	NC_000005.9:g.125918618G>C	VUS	1 lab	cfd469ca27
20:60639722 TAF4 G>A	20	60639722	60639722	G	A	TAF4	c.1145C>T	NM_003185.4	NP_003176.2:p.(Ala382Val)	NC_000020.10:g.60639722G>A	VUS	1 lab	cfd4ce9b62
17:12626333 MYOCD G>A	17	12626333	12626333	G	A	MYOCD	c.415+8G>A	NM_001146312.3	NP_001139784.1:p.?	NC_000017.10:g.12626333G>A	(Likely) benign	1 lab	cfd5a31fa2
14:62463055 SYT16 C>A	14	62463055	62463055	C	A	SYT16	c.318C>A	NM_001367656.1	NP_001354585.1:p.(Ser106Arg)	NC_000014.8:g.62463055C>A	(Likely) benign	1 lab	cfd7ffdb76
10:95276952 CEP55 GCT>G	10	95276952	95276954	GCT	G	CEP55	c.941_942del	NM_018131.5	NP_060601.4:p.(Ala314GlufsTer5)	NC_000010.10:g.95276953_95276954del	VUS	1 lab	cfd8e75c60
19:48673500 LIG1 T>C	19	48673500	48673500	T	C	LIG1	c.-60A>G	NM_000234.3	NP_000225.1:p.?	NC_000019.9:g.48673500T>C	(Likely) benign	1 lab	cfda608ce4
16:3828009 CREBBP T>C	16	3828009	3828009	T	C	CREBBP	c.2113+3A>G	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3828009T>C	(Likely) benign	1 lab	cfde31c049
12:122257726 SETD1B G>A	12	122257726	122257726	G	A	SETD1B	c.3835G>A	NM_001353345.2	NP_001340274.1:p.(Ala1279Thr)	NC_000012.11:g.122257726G>A	(Likely) benign	1 lab	cfde4f6fc4
17:65353639 PSMD12 C>T	17	65353639	65353639	C	T	PSMD12	c.164G>A	NM_002816.5	NP_002807.1:p.(Arg55His)	NC_000017.10:g.65353639C>T	VUS	1 lab	cfde623117
1:43885835 SZT2 C>T	1	43885835	43885835	C	T	SZT2	c.1102C>T	NM_001365999.1	NP_001352928.1:p.(Arg368Cys)	NC_000001.10:g.43885835C>T	VUS	1 lab	cfe1088707
12:46205286 ARID2 A>G	12	46205286	46205286	A	G	ARID2	c.370A>G	NM_152641.4	NP_689854.2:p.(Ile124Val)	NC_000012.11:g.46205286A>G	(Likely) benign	1 lab	cfe19c545e
1:182847316 DHX9 C>A	1	182847316	182847316	C	A	DHX9	c.2351+8C>A	NM_001357.5	NP_001348.2:p.?	NC_000001.10:g.182847316C>A	VUS	1 lab	cfe243098c
17:29490400 NF1 T>G	17	29490400	29490400	T	G	NF1	c.479+6T>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29490400T>G	VUS	1 lab	cfe2ab002b
5:140794752 PCDHGB4 C>G	5	140794752	140794752	C	G	PCDHGB4	c.2397+24904C>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140794752C>G	VUS	1 lab	cfe2e38af8
11:103014034 DYNC2H1 T>C	11	103014034	103014034	T	C	DYNC2H1	c.2612T>C	NM_001377.3	NP_001368.2:p.(Leu871Pro)	NC_000011.9:g.103014034T>C	VUS	1 lab	cfe395d0c2
5:127704871 FBN2 C>G	5	127704871	127704871	C	G	FBN2	c.2248+4G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127704871C>G	(Likely) benign	1 lab	cfe429fd3a
16:1260367 CACNA1H CAGGTT>C	16	1260367	1260372	CAGGTT	C	CACNA1H	c.3846-2_3848del	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260368_1260372del	(Likely) benign	1 lab	cfe49b243e
6:35420521 FANCE C>A	6	35420521	35420521	C	A	FANCE	c.199C>A	NM_021922.3	NP_068741.1:p.(Leu67Met)	NC_000006.11:g.35420521C>A	VUS	1 lab	cfe4c9e2d0
16:20976150 DNAH3 T>C	16	20976150	20976150	T	C	DNAH3	c.8918A>G	NM_001347886.2	NP_001334815.1:p.(Gln2973Arg)	NC_000016.9:g.20976150T>C	VUS	1 lab	cfe6441835
10:127477540 UROS AGC>A	10	127477540	127477547	AGC	A	UROS	c.693_694del	NM_000375.3	NP_000366.1:p.(Leu232GlyfsTer74)	NC_000010.10:g.127477546_127477547del	VUS	1 lab	cfe6ff6690
22:41320395 XPNPEP3 TG>T	22	41320395	41320397	TG	T	XPNPEP3	c.1268del	NM_022098.4	NP_071381.1:p.(Gly423AlafsTer25)	NC_000022.10:g.41320397del	VUS	1 lab	2b8cd6aaac
9:2648816 VLDLR G>A	9	2648816	2648816	G	A	VLDLR	c.2104+6G>A	NM_003383.5	NP_003374.3:p.?	NC_000009.11:g.2648816G>A	(Likely) benign	1 lab	cfead818d2
8:61693851 CHD7 C>G	8	61693851	61693851	C	G	CHD7	c.1958C>G	NM_017780.4	NP_060250.2:p.(Pro653Arg)	NC_000008.10:g.61693851C>G	VUS	1 lab	d144c5d422
2:109365544 RANBP2 T>TACG	2	109365544	109365548	T	TACG	RANBP2	c.1234_1236dup	NM_006267.5	NP_006258.3:p.(Arg412dup)	NC_000002.11:g.109365546_109365548dup	VUS	1 lab	2b8ff4efe5
16:67644971 CTCF A>G	16	67644971	67644971	A	G	CTCF	c.236A>G	NM_006565.4	NP_006556.1:p.(Glu79Gly)	NC_000016.9:g.67644971A>G	(Likely) benign	1 lab	cfef0de8ec
12:6709097 CHD4 C>T	12	6709097	6709097	C	T	CHD4	c.1324G>A	NM_001273.5	NP_001264.2:p.(Glu442Lys)	NC_000012.11:g.6709097C>T	VUS	1 lab	cfef4f95c1
1:110950301 LAMTOR5 C>A	1	110950301	110950301	C	A	LAMTOR5	c.-59G>T	NM_001382293.1	NP_001369222.1:p.?	NC_000001.10:g.110950301C>A	VUS	1 lab	cfefae234d
4:106307725 PPA2 G>A	4	106307725	106307725	G	A	PPA2	c.938C>T	NM_176869.3	NP_789845.1:p.(Ser313Leu)	NC_000004.11:g.106307725G>A	VUS	1 lab	cff028e453
11:2187243 TH T>G	11	2187243	2187243	T	G	TH	c.1093A>C	NM_000360.4	NP_000351.2:p.(Lys365Gln)	NC_000011.9:g.2187243T>G	VUS	1 lab	cff1376933
X:41198279 DDX3X A>T	X	41198279	41198279	A	T	DDX3X	c.104-10A>T	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41198279A>T	(Likely) benign	1 lab	cff3b9591d
8:77766357 ZFHX4 G>C	8	77766357	77766357	G	C	ZFHX4	c.7200G>C	NM_024721.5	NP_078997.4:p.(Glu2400Asp)	NC_000008.10:g.77766357G>C	(Likely) benign	1 lab	cff4153621
4:129003347 LARP1B A>T	4	129003347	129003347	A	T	LARP1B	c.245A>T	NM_018078.4	NP_060548.2:p.(His82Leu)	NC_000004.11:g.129003347A>T	(Likely) benign	1 lab	cff78a8fb2
18:743068 YES1 T>C	18	743068	743068	T	C	YES1	c.910A>G	NM_005433.4	NP_005424.1:p.(Ile304Val)	NC_000018.9:g.743068T>C	VUS	1 lab	cff7c9f560
2:95541366 TEKT4 G>A	2	95541366	95541366	G	A	TEKT4	c.970G>A	NM_144705.4	NP_653306.1:p.(Val324Met)	NC_000002.11:g.95541366G>A	(Likely) benign	1 lab	cff80dc845
17:423155 VPS53 G>C	17	423155	423155	G	C	VPS53	c.2239C>G	NM_001128159.3	NP_001121631.1:p.(His747Asp)	NC_000017.10:g.423155G>C	VUS	1 lab	cff82915f7
17:65940456 BPTF C>T	17	65940456	65940456	C	T	BPTF	c.6668C>T	NM_182641.4	NP_872579.2:p.(Thr2223Ile)	NC_000017.10:g.65940456C>T	VUS	1 lab	cff998eed6
7:103202402 RELN T>A	7	103202402	103202402	T	A	RELN	c.5211-2A>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202402T>A	(Likely) benign	1 lab	cffe38d4bc
11:62294715 AHNAK C>CTCG	11	62294715	62294716	C	CTCG	AHNAK	c.7173_7174insCGA	NM_001620.3	NP_001611.1:p.(Leu2391_Asp2392insArg)	NC_000011.9:g.62294715_62294716insTCG	(Likely) benign	1 lab	cffe3d754f
8:62479729 ASPH A>C	8	62479729	62479729	A	C	ASPH	c.1298T>G	NM_004318.4	NP_004309.2:p.(Leu433Arg)	NC_000008.10:g.62479729A>C	VUS	1 lab	d000627645
6:36672093 RAB44 T>G	6	36672093	36672093	T	G	RAB44	c.81T>G	NM_001257357.2	NP_001244286.1:p.(Asp27Glu)	NC_000006.11:g.36672093T>G	(Likely) benign	1 lab	d001134d6d
1:120491082 NOTCH2 A>G	1	120491082	120491082	A	G	NOTCH2	c.2707T>C	NM_024408.4	NP_077719.2:p.(Phe903Leu)	NC_000001.10:g.120491082A>G	VUS	1 lab	d001439399
19:11347536 DOCK6 C>T	19	11347536	11347536	C	T	DOCK6	c.2093G>A	NM_020812.4	NP_065863.2:p.(Arg698His)	NC_000019.9:g.11347536C>T	(Likely) benign	1 lab	d00599f7a6
20:44599889 ZNF335 G>C	20	44599889	44599889	G	C	ZNF335	c.161C>G	NM_022095.4	NP_071378.1:p.(Ser54Cys)	NC_000020.10:g.44599889G>C	VUS	1 lab	d00709754f
9:35685336 TPM2 C>T	9	35685336	35685336	C	T	TPM2	c.493G>A	NM_003289.4	NP_003280.2:p.(Val165Met)	NC_000009.11:g.35685336C>T	(Likely) benign	1 lab	d007920741
17:33279064 CCT6B C>T	17	33279064	33279064	C	T	CCT6B	c.519G>A	NM_006584.4	NP_006575.2:p.(Val173=)	NC_000017.10:g.33279064C>T	VUS	1 lab	d00842897d
22:41545960 EP300 A>G	22	41545960	41545960	A	G	EP300	c.2575A>G	NM_001429.4	NP_001420.2:p.(Ile859Val)	NC_000022.10:g.41545960A>G	VUS	1 lab	d0085ffcd1
3:57447313 DNAH12 G>A	3	57447313	57447313	G	A	DNAH12	c.2639C>T	NM_001366028.2	NP_001352957.1:p.(Ser880Leu)	NC_000003.11:g.57447313G>A	(Likely) benign	1 lab	d00ae3d4b0
16:15785124 NDE1 C>G	16	15785124	15785124	C	G	NDE1	c.647C>G	NM_017668.3	NP_060138.1:p.(Pro216Arg)	NC_000016.9:g.15785124C>G	VUS	1 lab	d00c815d4f
2:166243574 SCN2A A>G	2	166243574	166243574	A	G	SCN2A	c.4822+48A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243574A>G	(Likely) benign	1 lab	2d706b35b2
2:166003328 SCN3A C>G	2	166003328	166003328	C	G	SCN3A	c.1592G>C	NM_006922.4	NP_008853.3:p.(Ser531Thr)	NC_000002.11:g.166003328C>G	VUS	1 lab	d00ce071d9
10:68526061 CTNNA3 A>G	10	68526061	68526061	A	G	CTNNA3	c.1242T>C	NM_013266.4	NP_037398.2:p.(Tyr414=)	NC_000010.10:g.68526061A>G	(Likely) benign	1 lab	2d70800ec6
X:30873066 TAB3 G>A	X	30873066	30873066	G	A	TAB3	c.716C>T	NM_152787.5	NP_690000.3:p.(Ser239Leu)	NC_000023.10:g.30873066G>A	VUS	1 lab	d010a6fc0d
11:6662325 DCHS1 G>A	11	6662325	6662325	G	A	DCHS1	c.520C>T	NM_003737.4	NP_003728.1:p.(Arg174Cys)	NC_000011.9:g.6662325G>A	VUS	1 lab	d01113b8cb
11:68179030 LRP5 C>A	11	68179030	68179030	C	A	LRP5	c.2445C>A	NM_002335.4	NP_002326.2:p.(Asp815Glu)	NC_000011.9:g.68179030C>A	VUS	1 lab	d0124ca73c
18:67872485 RTTN A>G	18	67872485	67872485	A	G	RTTN	c.98T>C	NM_173630.4	NP_775901.3:p.(Leu33Ser)	NC_000018.9:g.67872485A>G	VUS	1 lab	d012a1a969
2:69053291 ARHGAP25 G>A	2	69053291	69053291	G	A	ARHGAP25	c.1906G>A	NM_001007231.3	NP_001007232.2:p.(Val636Ile)	NC_000002.11:g.69053291G>A	VUS	1 lab	d0139254da
17:40556870 CAVIN1 G>A	17	40556870	40556870	G	A	CAVIN1	c.1008C>T	NM_012232.6	NP_036364.2:p.(Leu336=)	NC_000017.10:g.40556870G>A	(Likely) benign	1 lab	d014ddd306
8:77765045 ZFHX4 G>T	8	77765045	77765045	G	T	ZFHX4	c.5888G>T	NM_024721.5	NP_078997.4:p.(Ser1963Ile)	NC_000008.10:g.77765045G>T	VUS	1 lab	d0152d9aa3
7:98994319 PDAP1 A>G	7	98994319	98994319	A	G	PDAP1	c.532T>C	NM_014891.7	NP_055706.1:p.(Ser178Pro)	NC_000007.13:g.98994319A>G	VUS	1 lab	d016ac9f7f
11:799515 PIDD1 C>T	11	799515	799515	C	T	PIDD1	c.2525G>A	NM_145886.4	NP_665893.2:p.(Arg842His)	NC_000011.9:g.799515C>T	(Likely) benign	1 lab	d01860e1f7
2:109384448 RANBP2 G>A	2	109384448	109384448	G	A	RANBP2	c.7453G>A	NM_006267.4	NP_006258.3:p.(Gly2485Ser)	NC_000002.11:g.109384448G>A	(Likely) benign	1 lab	2d70e2e82a
21:47545963 COL6A2 G>A	21	47545963	47545963	G	A	COL6A2	c.2234G>A	NM_001849.4	NP_001840.3:p.(Arg745Gln)	NC_000021.8:g.47545963G>A	(Likely) benign	1 lab	d019b15c02
15:57731293 CGNL1 C>T	15	57731293	57731293	C	T	CGNL1	c.1096C>T	NM_032866.5	NP_116255.2:p.(Leu366Phe)	NC_000015.9:g.57731293C>T	(Likely) benign	1 lab	d01b9b2408
19:41903787 BCKDHA C>A	19	41903787	41903787	C	A	BCKDHA	c.55C>A	NM_000709.4	NP_000700.1:p.(Gln19Lys)	NC_000019.9:g.41903787C>A	VUS	1 lab	d01c2b2f89
16:58743422 GOT2 G>C	16	58743422	58743422	G	C	GOT2	c.1069C>G	NM_002080.4	NP_002071.2:p.(Gln357Glu)	NC_000016.9:g.58743422G>C	VUS	1 lab	d01e61ad3a
19:54653434 CNOT3 A>G	19	54653434	54653434	A	G	CNOT3	c.1546A>G	NM_014516.4	NP_055331.1:p.(Lys516Glu)	NC_000019.9:g.54653434A>G	VUS	1 lab	d01e7b07be
1:144865850 PDE4DIP G>T	1	144865850	144865850	G	T	PDE4DIP	c.5928C>A	NM_001395426.1	NP_001382355.1:p.(Asp1976Glu)	NC_000001.10:g.144865850G>T	VUS	1 lab	d01f654097
2:241656788 KIF1A C>G	2	241656788	241656788	C	G	KIF1A	c.5369G>C	NM_001244008.2	NP_001230937.1:p.(Arg1790Pro)	NC_000002.11:g.241656788C>G	(Likely) benign	1 lab	d02266adb4
22:43040474 CYB5R3 G>A	22	43040474	43040474	G	A	CYB5R3	c.21+4827C>T	NM_000398.7	NP_000389.1:p.?	NC_000022.10:g.43040474G>A	VUS	1 lab	d0241c82f3
10:15655710 ITGA8 T>C	10	15655710	15655710	T	C	ITGA8	c.1502A>G	NM_003638.3	NP_003629.2:p.(Asn501Ser)	NC_000010.10:g.15655710T>C	VUS	1 lab	d024718b6b
2:170093615 LRP2 C>T	2	170093615	170093615	C	T	LRP2	c.4689G>A	NM_004525.3	NP_004516.2:p.(Met1563Ile)	NC_000002.11:g.170093615C>T	(Likely) benign	1 lab	d0253d8dae
2:36691670 CRIM1 G>A	2	36691670	36691670	G	A	CRIM1	c.870-7G>A	NM_016441.3	NP_057525.1:p.?	NC_000002.11:g.36691670G>A	VUS	1 lab	d02580402b
6:129824417 LAMA2 TG>T	6	129824417	129824419	TG	T	LAMA2	c.8541del	NM_000426.4	NP_000417.3:p.(Trp2847CysfsTer6)	NC_000006.11:g.129824419del	VUS	1 lab	d026d02253
4:126238110 FAT4 G>T	4	126238110	126238110	G	T	FAT4	c.544G>T	NM_001291303.3	NP_001278232.1:p.(Ala182Ser)	NC_000004.11:g.126238110G>T	(Likely) benign	1 lab	d026e6521e
7:114282471 FOXP2 TA>T	7	114282471	114282473	TA	T	FOXP2	c.859del	NM_148898.4	NP_683696.2:p.(Ser287ValfsTer12)	NC_000007.13:g.114282473del	(Likely) pathogenic	1 lab	2b936809ae
2:179577689 TTN A>T	2	179577689	179577689	A	T	TTN	c.27063T>A	NM_001267550.2	NP_001254479.2:p.(Phe9021Leu)	NC_000002.11:g.179577689A>T	VUS	1 lab	2b93f8fa6d
16:396155 AXIN1 C>G	16	396155	396155	C	G	AXIN1	c.871G>C	NM_003502.4	NP_003493.1:p.(Glu291Gln)	NC_000016.9:g.396155C>G	VUS	1 lab	d02875bd4e
22:24906695 UPB1 CTGCCCTTTCTCCTATTTATAGCTA>C	22	24906695	24906727	CTGCCCTTTCTCCTATTTATAGCTA	C	UPB1	c.365-13_375del	NM_016327.3	NP_057411.1:p.?	NC_000022.10:g.24906704_24906727del	VUS	1 lab	d029865116
3:129195217 IFT122 C>T	3	129195217	129195217	C	T	IFT122	c.876C>T	NM_052989.3	NP_443715.1:p.(Gly292=)	NC_000003.11:g.129195217C>T	VUS	1 lab	d02a654467
5:14389425 TRIO G>A	5	14389425	14389425	G	A	TRIO	c.3976G>A	NM_007118.4	NP_009049.2:p.(Val1326Met)	NC_000005.9:g.14389425G>A	VUS	1 lab	d02bf2c996
12:21623280 RECQL C>G	12	21623280	21623280	C	G	RECQL	c.1798G>C	NM_002907.4	NP_002898.2:p.(Ala600Pro)	NC_000012.11:g.21623280C>G	(Likely) benign	1 lab	d02ca71626
2:178879194 PDE11A A>AT	2	178879194	178879195	A	AT	PDE11A	c.913-8dup	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178879195dup	(Likely) benign	1 lab	d02ccbddf2
10:89475478 PAPSS2 G>A	10	89475478	89475478	G	A	PAPSS2	c.754-11G>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89475478G>A	(Likely) benign	1 lab	d02f7a8dac
1:229567384 ACTA1 G>T	1	229567384	229567384	G	T	ACTA1	c.996C>A	NM_001100.4	NP_001091.1:p.(Ile332=)	NC_000001.10:g.229567384G>T	(Likely) benign	1 lab	d0301506f6
1:16905782 NBPF1 C>G	1	16905782	16905782	C	G	NBPF1	c.1707G>C	NM_001405666.3	NP_001392595.1:p.(Gln569His)	NC_000001.10:g.16905782C>G	(Likely) benign	1 lab	d0301e47ba
1:156882649 PEAR1 C>G	1	156882649	156882649	C	G	PEAR1	c.2297C>G	NM_001080471.3	NP_001073940.1:p.(Ser766Cys)	NC_000001.10:g.156882649C>G	(Likely) benign	1 lab	d0304e9cb5
17:78188017 SGSH C>T	17	78188017	78188017	C	T	SGSH	c.617G>A	NM_000199.5	NP_000190.1:p.(Arg206His)	NC_000017.10:g.78188017C>T	(Likely) benign	1 lab	d030d6ca9c
16:24135187 PRKCB C>T	16	24135187	24135187	C	T	PRKCB	c.950C>T	NM_002738.7	NP_002729.2:p.(Pro317Leu)	NC_000016.9:g.24135187C>T	VUS	1 lab	d0311e8b38
11:55110845 OR4A16 A>G	11	55110845	55110845	A	G	OR4A16	c.169A>G	NM_001005274.1	NP_001005274.1:p.(Met57Val)	NC_000011.9:g.55110845A>G	(Likely) benign	1 lab	d031579627
10:75576558 CAMK2G A>T	10	75576558	75576558	A	T	CAMK2G	c.1534+223T>A	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75576558A>T	VUS	1 lab	d03240e65b
10:24669904 KIAA1217 G>T	10	24669904	24669904	G	T	KIAA1217	c.461G>T	NM_019590.5	NP_062536.2:p.(Gly154Val)	NC_000010.10:g.24669904G>T	VUS	1 lab	d0338f8820
1:1464685 ATAD3A A>G	1	1464685	1464685	A	G	ATAD3A	c.1588A>G	NM_001170535.3	NP_001164006.1:p.(Ile530Val)	NC_000001.10:g.1464685A>G	VUS	1 lab	d034a780f2
1:10683142 PEX14 G>A	1	10683142	10683142	G	A	PEX14	c.451G>A	NM_004565.3	NP_004556.1:p.(Gly151Ser)	NC_000001.10:g.10683142G>A	(Likely) benign	1 lab	d0356b6c40
14:64916165 MTHFD1 C>T	14	64916165	64916165	C	T	MTHFD1	c.2282C>T	NM_005956.4	NP_005947.3:p.(Thr761Met)	NC_000014.8:g.64916165C>T	(Likely) benign	1 lab	2d7150a387
17:47210448 B4GALNT2 G>A	17	47210448	47210448	G	A	B4GALNT2	c.14+280G>A	NM_001159387.2	NP_001152859.1:p.?	NC_000017.10:g.47210448G>A	(Likely) benign	1 lab	d039236003
7:143964238 CTAGE8 T>G	7	143964238	143964238	T	G	CTAGE8	c.2106A>C	NM_001278507.2	NP_001265436.1:p.(Arg702Ser)	NC_000007.13:g.143964238T>G	VUS	1 lab	d03acab6a6
12:113612558 DDX54 G>A	12	113612558	113612558	G	A	DDX54	c.955C>T	NM_024072.4	NP_076977.3:p.(Arg319Trp)	NC_000012.11:g.113612558G>A	VUS	1 lab	d03c2fe8bd
X:12736345 FRMPD4 C>T	X	12736345	12736345	C	T	FRMPD4	c.3400C>T	NM_001368397.1	NP_001355326.1:p.(Pro1134Ser)	NC_000023.10:g.12736345C>T	VUS	1 lab	d03de4889a
1:120529712 NOTCH2 A>G	1	120529712	120529712	A	G	NOTCH2	c.752-7T>C	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120529712A>G	(Likely) benign	1 lab	d03e5a5742
21:47541016 COL6A2 T>C	21	47541016	47541016	T	C	COL6A2	c.1437T>C	NM_001849.4	NP_001840.3:p.(Ala479=)	NC_000021.8:g.47541016T>C	(Likely) benign	1 lab	d03ef72d33
19:18709642 CRLF1 G>A	19	18709642	18709642	G	A	CRLF1	c.467C>T	NM_004750.5	NP_004741.1:p.(Thr156Met)	NC_000019.9:g.18709642G>A	(Likely) benign	1 lab	d03feb0f2f
11:7690873 CYB5R2 C>T	11	7690873	7690873	C	T	CYB5R2	c.241G>A	NM_016229.5	NP_057313.2:p.(Val81Met)	NC_000011.9:g.7690873C>T	(Likely) benign	1 lab	d0402d25e8
19:13039271 FARSA C>A	19	13039271	13039271	C	A	FARSA	c.726G>T	NM_004461.3	NP_004452.1:p.(Gly242=)	NC_000019.9:g.13039271C>A	VUS	1 lab	d093931bef
X:117733154 DOCK11 C>T	X	117733154	117733154	C	T	DOCK11	c.2525C>T	NM_144658.4	NP_653259.3:p.(Ser842Leu)	NC_000023.10:g.117733154C>T	(Likely) benign	1 lab	d0403c923e
19:18901692 COMP C>T	19	18901692	18901692	C	T	COMP	c.132G>A	NM_000095.3	NP_000086.2:p.(Ala44=)	NC_000019.9:g.18901692C>T	(Likely) benign	1 lab	d0418abb25
7:44185097 GCK TG>T	7	44185097	44185101	TG	T	GCK	c.1251del	NM_000162.5	NP_000153.1:p.(Ser418AlafsTer13)	NC_000007.13:g.44185101del	(Likely) pathogenic	1 lab	d041f8b92a
8:145738384 RECQL4 G>C	8	145738384	145738384	G	C	RECQL4	c.2601C>G	NM_004260.4	NP_004251.4:p.(Ala867=)	NC_000008.10:g.145738384G>C	(Likely) benign	1 lab	d0456f15f7
5:42700022 GHR G>A	5	42700022	42700022	G	A	GHR	c.536G>A	NM_000163.5	NP_000154.1:p.(Arg179His)	NC_000005.9:g.42700022G>A	VUS	1 lab	d04640903e
13:39262088 FREM2 C>G	13	39262088	39262088	C	G	FREM2	c.607C>G	NM_207361.6	NP_997244.4:p.(Arg203Gly)	NC_000013.10:g.39262088C>G	VUS	1 lab	d0464ee0a6
14:54417561 BMP4 C>T	14	54417561	54417561	C	T	BMP4	c.416G>A	NM_001202.6	NP_001193.2:p.(Arg139His)	NC_000014.8:g.54417561C>T	VUS	1 lab	d049ad34ab
17:17119708 FLCN T>TG	17	17119708	17119716	T	TG	FLCN	c.1285dup	NM_144997.7	NP_659434.2:p.(His429ProfsTer27)	NC_000017.10:g.17119716dup	(Likely) pathogenic	1 lab	2b956f0e90
19:42797805 CIC G>A	19	42797805	42797805	G	A	CIC	c.6584G>A	NM_001386298.1	NP_001373227.1:p.(Arg2195His)	NC_000019.9:g.42797805G>A	(Likely) benign	1 lab	d04a284681
11:6662556 DCHS1 G>T	11	6662556	6662556	G	T	DCHS1	c.289C>A	NM_003737.4	NP_003728.1:p.(His97Asn)	NC_000011.9:g.6662556G>T	(Likely) benign	1 lab	d04b9a9df2
9:124094731 GSN G>C	9	124094731	124094731	G	C	GSN	c.2046G>C	NM_198252.3	NP_937895.1:p.(Thr682=)	NC_000009.11:g.124094731G>C	(Likely) benign	1 lab	d04bd63a7d
14:103438340 CDC42BPB G>T	14	103438340	103438340	G	T	CDC42BPB	c.1800C>A	NM_006035.4	NP_006026.3:p.(Asp600Glu)	NC_000014.8:g.103438340G>T	(Likely) benign	1 lab	d04c185fce
2:197184407 HECW2 A>C	2	197184407	197184407	A	C	HECW2	c.1207T>G	NM_001348768.2	NP_001335697.1:p.(Ser403Ala)	NC_000002.11:g.197184407A>C	VUS	1 lab	d04f911ac9
X:153594415 FLNA G>A	X	153594415	153594415	G	A	FLNA	c.1406C>T	NM_001110556.2	NP_001104026.1:p.(Pro469Leu)	NC_000023.10:g.153594415G>A	(Likely) benign	1 lab	d04ff30345
7:150764024 SLC4A2 C>T	7	150764024	150764024	C	T	SLC4A2	c.910C>T	NM_003040.4	NP_003031.3:p.(Arg304Trp)	NC_000007.13:g.150764024C>T	VUS	1 lab	d050886679
10:12056031 UPF2 G>A	10	12056031	12056031	G	A	UPF2	c.1298C>T	NM_015542.4	NP_056357.1:p.(Thr433Ile)	NC_000010.10:g.12056031G>A	VUS	1 lab	d0533a7fd5
17:8449872 MYH10 G>C	17	8449872	8449872	G	C	MYH10	c.1268C>G	NM_001256012.3	NP_001242941.1:p.(Thr423Ser)	NC_000017.10:g.8449872G>C	(Likely) benign	1 lab	d053f422ce
6:33384689 CUTA G>A	6	33384689	33384689	G	A	CUTA	c.413+8C>T	NM_001014840.2	NP_001014840.1:p.?	NC_000006.11:g.33384689G>A	VUS	1 lab	d054bf49fb
8:41557096 ANK1 G>A	8	41557096	41557096	G	A	ANK1	c.2462-30C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41557096G>A	(Likely) benign	1 lab	2d73fc2366
12:52825801 KRT75 C>G	12	52825801	52825801	C	G	KRT75	c.763G>C	NM_004693.3	NP_004684.2:p.(Ala255Pro)	NC_000012.11:g.52825801C>G	VUS	1 lab	d056485ee7
22:37480768 TMPRSS6 G>A	22	37480768	37480768	G	A	TMPRSS6	c.1085C>T	NM_001374504.1	NP_001361433.1:p.(Thr362Met)	NC_000022.10:g.37480768G>A	(Likely) benign	1 lab	d0567525e5
2:46608871 EPAS1 C>A	2	46608871	46608871	C	A	EPAS1	c.2172+10C>A	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46608871C>A	(Likely) benign	1 lab	d057708615
21:38380474 RIPPLY3 C>T	21	38380474	38380474	C	T	RIPPLY3	c.122C>T	NM_018962.3	NP_061835.1:p.(Pro41Leu)	NC_000021.8:g.38380474C>T	VUS	1 lab	d057bbeff0
7:44186137 GCK A>G	7	44186137	44186137	A	G	GCK	c.944T>C	NM_000162.5	NP_000153.1:p.(Leu315Pro)	NC_000007.13:g.44186137A>G	(Likely) pathogenic	1 lab	d058477f78
14:21873880 CHD8 CT>C	14	21873880	21873881	CT	C	CHD8	c.3050del	NM_001170629.2	NP_001164100.1:p.(Gln1017ArgfsTer12)	NC_000014.8:g.21873881del	(Likely) pathogenic	1 lab	d059116e44
16:88951474 CBFA2T3 C>T	16	88951474	88951474	C	T	CBFA2T3	c.1097G>A	NM_005187.6	NP_005178.4:p.(Arg366Gln)	NC_000016.9:g.88951474C>T	(Likely) benign	1 lab	d059fa088a
11:64895892 SYVN1 G>A	11	64895892	64895892	G	A	SYVN1	c.1816C>T	NM_172230.3	NP_757385.1:p.(Arg606Cys)	NC_000011.9:g.64895892G>A	VUS	1 lab	d05a05ac4d
X:54783664 ITIH6 G>A	X	54783664	54783664	G	A	ITIH6	c.2843C>T	NM_198510.3	NP_940912.1:p.(Pro948Leu)	NC_000023.10:g.54783664G>A	(Likely) benign	1 lab	d05a08733e
6:56504812 DST A>C	6	56504812	56504812	A	C	DST	c.2534T>G	NM_001374736.1	NP_001361665.1:p.(Val845Gly)	NC_000006.11:g.56504812A>C	VUS	1 lab	d05b5b24d9
16:30749084 SRCAP T>A	16	30749084	30749084	T	A	SRCAP	c.7723T>A	NM_006662.3	NP_006653.2:p.(Ser2575Thr)	NC_000016.9:g.30749084T>A	(Likely) benign	1 lab	d05b88510a
22:41545039 EP300 C>T	22	41545039	41545039	C	T	EP300	c.2242-3C>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41545039C>T	(Likely) benign	1 lab	d05c2c796c
19:53854809 ZNF845 C>A	19	53854809	53854809	C	A	ZNF845	c.881C>A	NM_138374.3	NP_612383.1:p.(Thr294Asn)	NC_000019.9:g.53854809C>A	(Likely) benign	1 lab	d05d910988
1:64059386 PGM1 G>C	1	64059386	64059386	G	C	PGM1	c.227G>C	NM_002633.3	NP_002624.2:p.(Arg76Pro)	NC_000001.10:g.64059386G>C	VUS	1 lab	d05da4952f
2:25457229 DNMT3A C>T	2	25457229	25457229	C	T	DNMT3A	c.2658G>A	NM_022552.5	NP_072046.2:p.(Gln886=)	NC_000002.11:g.25457229C>T	(Likely) benign	1 lab	d05ec37919
22:41546131 EP300 T>TCACAGCAGAG	22	41546131	41546149	T	TCACAGCAGAG	EP300	c.2755_2764dup	NM_001429.4	NP_001420.2:p.(Ala922GlufsTer30)	NC_000022.10:g.41546140_41546149dup	VUS	1 lab	d05efb20e5
1:36026872 NCDN G>T	1	36026872	36026872	G	T	NCDN	c.1120G>T	NM_014284.3	NP_055099.1:p.(Ala374Ser)	NC_000001.10:g.36026872G>T	VUS	1 lab	d05f709d79
2:16086095 MYCN A>G	2	16086095	16086095	A	G	MYCN	c.1271A>G	NM_005378.6	NP_005369.2:p.(Lys424Arg)	NC_000002.11:g.16086095A>G	VUS	1 lab	d062fe574a
2:179650585 TTN A>G	2	179650585	179650585	A	G	TTN	c.2360T>C	NM_001267550.2	NP_001254479.2:p.(Ile787Thr)	NC_000002.11:g.179650585A>G	VUS	1 lab	d0639242b5
1:113459988 SLC16A1 G>T	1	113459988	113459988	G	T	SLC16A1	c.1040C>A	NM_003051.4	NP_003042.3:p.(Ala347Glu)	NC_000001.10:g.113459988G>T	VUS	1 lab	2b9a7f00f1
7:70254959 AUTS2 G>T	7	70254959	70254959	G	T	AUTS2	c.2757G>T	NM_015570.4	NP_056385.1:p.(Lys919Asn)	NC_000007.13:g.70254959G>T	VUS	1 lab	d066052a66
X:109247384 TMEM164 A>G	X	109247384	109247384	A	G	TMEM164	c.382A>G	NM_032227.4	NP_115603.2:p.(Met128Val)	NC_000023.10:g.109247384A>G	VUS	1 lab	d0673cc696
12:121947549 KDM2B A>G	12	121947549	121947549	A	G	KDM2B	c.1468T>C	NM_032590.5	NP_115979.3:p.(Tyr490His)	NC_000012.11:g.121947549A>G	VUS	1 lab	d068b2fd22
7:151877968 KMT2C G>T	7	151877968	151877968	G	T	KMT2C	c.6977C>A	NM_170606.3	NP_733751.2:p.(Pro2326Gln)	NC_000007.13:g.151877968G>T	(Likely) benign	1 lab	d068dc4602
5:137709456 KDM3B G>C	5	137709456	137709456	G	C	KDM3B	c.360+926G>C	NM_016604.4	NP_057688.3:p.?	NC_000005.9:g.137709456G>C	(Likely) benign	1 lab	d069aa7252
15:75653996 MAN2C1 G>C	15	75653996	75653996	G	C	MAN2C1	c.1167C>G	NM_006715.4	NP_006706.2:p.(Ile389Met)	NC_000015.9:g.75653996G>C	VUS	1 lab	d06a0fbcc5
6:167753675 TTLL2 C>T	6	167753675	167753675	C	T	TTLL2	c.287C>T	NM_031949.5	NP_114155.4:p.(Pro96Leu)	NC_000006.11:g.167753675C>T	(Likely) benign	1 lab	d06ab812ff
X:39921437 BCOR G>A	X	39921437	39921437	G	A	BCOR	c.4383C>T	NM_001123385.2	NP_001116857.1:p.(Asn1461=)	NC_000023.10:g.39921437G>A	(Likely) benign	1 lab	d06cfe9a7f
2:20138025 WDR35 C>T	2	20138025	20138025	C	T	WDR35	c.2063+1G>A	NM_020779.4	NP_065830.2:p.?	NC_000002.11:g.20138025C>T	(Likely) pathogenic	1 lab	d06f7e396d
1:22159797 HSPG2 C>T	1	22159797	22159797	C	T	HSPG2	c.11059G>A	NM_005529.7	NP_005520.4:p.(Glu3687Lys)	NC_000001.10:g.22159797C>T	VUS	1 lab	d070da3daa
1:152276135 FLG G>A	1	152276135	152276135	G	A	FLG	c.11227C>T	NM_002016.2	NP_002007.1:p.(Arg3743Ter)	NC_000001.10:g.152276135G>A	(Likely) pathogenic	1 lab	d07289b8bd
16:84096960 MBTPS1 A>G	16	84096960	84096960	A	G	MBTPS1	c.2522T>C	NM_003791.4	NP_003782.1:p.(Ile841Thr)	NC_000016.9:g.84096960A>G	VUS	1 lab	d072ba36a1
12:56075840 TMT1B C>T	12	56075840	56075840	C	T	TMT1B	c.302C>T	NM_152637.3	NP_689850.2:p.(Pro101Leu)	NC_000012.11:g.56075840C>T	(Likely) benign	1 lab	d073b42c61
15:23892685 MAGEL2 G>T	15	23892685	23892685	G	T	MAGEL2	c.205C>A	NM_019066.5	NP_061939.3:p.(Gln69Lys)	NC_000015.9:g.23892685G>T	VUS	1 lab	d093b6d0ac
9:98239147 PTCH1 A>G	9	98239147	98239147	A	G	PTCH1	c.1504-8T>C	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98239147A>G	(Likely) benign	1 lab	d0761b094d
1:115260809 CSDE1 T>G	1	115260809	115260809	T	G	CSDE1	c.2378A>C	NM_001007553.3	NP_001007554.1:p.(Gln793Pro)	NC_000001.10:g.115260809T>G	(Likely) benign	1 lab	d076f6fdbc
16:2222286 TRAF7 C>T	16	2222286	2222286	C	T	TRAF7	c.570C>T	NM_032271.3	NP_115647.2:p.(His190=)	NC_000016.9:g.2222286C>T	(Likely) benign	1 lab	d0772754fe
22:31332920 MORC2 G>A	22	31332920	31332920	G	A	MORC2	c.1603C>T	NM_001303256.3	NP_001290185.1:p.(Arg535Trp)	NC_000022.10:g.31332920G>A	VUS	1 lab	d0788e64d2
13:32911339 BRCA2 T>A	13	32911339	32911339	T	A	BRCA2	c.2847T>A	NM_000059.4	NP_000050.3:p.(Tyr949Ter)	NC_000013.10:g.32911339T>A	(Likely) pathogenic	1 lab	d07ae03720
1:152275640 FLG C>T	1	152275640	152275640	C	T	FLG	c.11722G>A	NM_002016.2	NP_002007.1:p.(Asp3908Asn)	NC_000001.10:g.152275640C>T	(Likely) benign	1 lab	d07b7d3a28
12:49443459 KMT2D C>T	12	49443459	49443459	C	T	KMT2D	c.3906+6G>A	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49443459C>T	(Likely) benign	1 lab	d07ff50d35
20:58440873 SYCP2 G>A	20	58440873	58440873	G	A	SYCP2	c.4368C>T	NM_014258.4	NP_055073.2:p.(Ser1456=)	NC_000020.10:g.58440873G>A	(Likely) benign	1 lab	d08028f10c
4:84200247 COQ2 G>C	4	84200247	84200247	G	C	COQ2	c.274C>G	NM_001358921.2	NP_001345850.1:p.(Pro92Ala)	NC_000004.11:g.84200247G>C	VUS	1 lab	d08243e28f
6:15501589 JARID2 AGAG>A	6	15501589	15501600	AGAG	A	JARID2	c.2406_2408del	NM_004973.4	NP_004964.2:p.(Glu802del)	NC_000006.11:g.15501598_15501600del	(Likely) benign	1 lab	d083a75dfe
20:44576365 PCIF1 G>A	20	44576365	44576365	G	A	PCIF1	c.2086G>A	NM_022104.4	NP_071387.1:p.(Gly696Ser)	NC_000020.10:g.44576365G>A	(Likely) benign	1 lab	d083eafeb8
15:51207689 AP4E1 G>A	15	51207689	51207689	G	A	AP4E1	c.267G>A	NM_007347.5	NP_031373.2:p.(Met89Ile)	NC_000015.9:g.51207689G>A	VUS	1 lab	d084549653
4:190862181 FRG1 A>G	4	190862181	190862181	A	G	FRG1	c.17A>G	NM_004477.3	NP_004468.1:p.(Tyr6Cys)	NC_000004.11:g.190862181A>G	(Likely) benign	1 lab	d086b8b372
14:59113599 DACT1 G>A	14	59113599	59113599	G	A	DACT1	c.2147G>A	NM_001079520.2	NP_001072988.1:p.(Cys716Tyr)	NC_000014.8:g.59113599G>A	(Likely) benign	1 lab	d086f28fc5
5:13719144 DNAH5 T>C	5	13719144	13719144	T	C	DNAH5	c.12346A>G	NM_001369.3	NP_001360.1:p.(Ile4116Val)	NC_000005.9:g.13719144T>C	(Likely) benign	1 lab	d087b74efe
17:19282240 MAPK7 C>A	17	19282240	19282240	C	A	MAPK7	c.27C>A	NM_002749.4	NP_002740.2:p.(Asp9Glu)	NC_000017.10:g.19282240C>A	VUS	1 lab	d087e0b0f2
3:36779103 DCLK3 C>T	3	36779103	36779103	C	T	DCLK3	c.1555G>A	NM_001394672.2	NP_001381601.1:p.(Ala519Thr)	NC_000003.11:g.36779103C>T	(Likely) benign	1 lab	d08861607e
7:99702498 AP4M1 G>A	7	99702498	99702498	G	A	AP4M1	c.608G>A	NM_004722.4	NP_004713.2:p.(Gly203Glu)	NC_000007.13:g.99702498G>A	VUS	1 lab	d089abf7aa
19:17942557 JAK3 G>T	19	17942557	17942557	G	T	JAK3	c.2731C>A	NM_000215.4	NP_000206.2:p.(Arg911Ser)	NC_000019.9:g.17942557G>T	VUS	1 lab	d089de8bf5
12:133384834 GOLGA3 T>G	12	133384834	133384834	T	G	GOLGA3	c.821A>C	NM_001389683.1	NP_001376612.1:p.(Lys274Thr)	NC_000012.11:g.133384834T>G	VUS	1 lab	d08aea67cb
3:138664866 FOXL2 GGCTGCAGCCGCAGCT>G	3	138664866	138664892	GGCTGCAGCCGCAGCT	G	FOXL2	c.684_698del	NM_023067.4	NP_075555.1:p.(Ala230_Ala234del)	NC_000003.11:g.138664878_138664892del	(Likely) pathogenic	1 lab	d08aedb428
16:2167987 PKD1 C>T	16	2167987	2167987	C	T	PKD1	c.1006G>A	NM_001009944.3	NP_001009944.3:p.(Val336Met)	NC_000016.9:g.2167987C>T	VUS	1 lab	d08b1ff04d
16:58620380 CNOT1 A>G	16	58620380	58620380	A	G	CNOT1	c.637+69T>C	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58620380A>G	(Likely) benign	1 lab	d08c998f55
12:112036794 ATXN2 C>CTGT	12	112036794	112036797	C	CTGT	ATXN2	c.44_45insACA	NM_001372574.1	NP_001359503.1:p.(Gln28dup)	NC_000012.11:g.112036796_112036797insTTG	VUS	1 lab	d08ff61756
3:135913806 MSL2 C>T	3	135913806	135913806	C	T	MSL2	c.142+8G>A	NM_018133.4	NP_060603.2:p.?	NC_000003.11:g.135913806C>T	(Likely) benign	1 lab	d092194d22
2:175111506 OLA1 G>A	2	175111506	175111506	G	A	OLA1	c.38C>T	NM_013341.5	NP_037473.3:p.(Pro13Leu)	NC_000002.11:g.175111506G>A	(Likely) benign	1 lab	d0933a9ffa
11:77817914 ALG8 A>G	11	77817914	77817914	A	G	ALG8	c.1117T>C	NM_024079.5	NP_076984.2:p.(Ser373Pro)	NC_000011.9:g.77817914A>G	VUS	1 lab	d093ff7fa4
12:4409155 CCND2 G>A	12	4409155	4409155	G	A	CCND2	c.850G>A	NM_001759.4	NP_001750.1:p.(Val284Met)	NC_000012.11:g.4409155G>A	VUS	1 lab	d094010e8a
16:69369128 COG8 C>T	16	69369128	69369128	C	T	COG8	c.709G>A	NM_032382.5	NP_115758.3:p.(Val237Ile)	NC_000016.9:g.69369128C>T	(Likely) benign	1 lab	d09748b092
7:7457539 COL28A1 C>A	7	7457539	7457539	C	A	COL28A1	c.2087G>T	NM_001037763.3	NP_001032852.2:p.(Gly696Val)	NC_000007.13:g.7457539C>A	VUS	1 lab	d0980aee56
6:135749886 AHI1 C>G	6	135749886	135749886	C	G	AHI1	c.2504G>C	NM_001134831.2	NP_001128303.1:p.(Arg835Thr)	NC_000006.11:g.135749886C>G	(Likely) benign	1 lab	d09d66daa8
11:67377890 NDUFV1 C>T	11	67377890	67377890	C	T	NDUFV1	c.549C>T	NM_007103.4	NP_009034.2:p.(Gly183=)	NC_000011.9:g.67377890C>T	VUS	1 lab	d09eb2440c
11:71943374 INPPL1 C>T	11	71943374	71943374	C	T	INPPL1	c.1706C>T	NM_001567.4	NP_001558.3:p.(Thr569Met)	NC_000011.9:g.71943374C>T	(Likely) benign	1 lab	d0a020e8e9
13:33684987 STARD13 C>T	13	33684987	33684987	C	T	STARD13	c.2665G>A	NM_178006.4	NP_821074.1:p.(Val889Met)	NC_000013.10:g.33684987C>T	(Likely) benign	1 lab	d0a075d8bc
19:407974 C2CD4C G>A	19	407974	407974	G	A	C2CD4C	c.388C>T	NM_001136263.2	NP_001129735.1:p.(Pro130Ser)	NC_000019.9:g.407974G>A	VUS	1 lab	d0a2a3203f
1:17609464 PADI3 A>G	1	17609464	17609464	A	G	PADI3	c.1885A>G	NM_016233.2	NP_057317.2:p.(Thr629Ala)	NC_000001.10:g.17609464A>G	(Likely) benign	1 lab	d0a3cdfbe1
8:106813922 ZFPM2 G>A	8	106813922	106813922	G	A	ZFPM2	c.1612G>A	NM_012082.4	NP_036214.2:p.(Val538Ile)	NC_000008.10:g.106813922G>A	(Likely) benign	1 lab	d0a41a0e9c
18:30950014 CCDC178 C>T	18	30950014	30950014	C	T	CCDC178	c.348G>A	NM_001105528.4	NP_001098998.1:p.(Arg116=)	NC_000018.9:g.30950014C>T	(Likely) benign	1 lab	d0a4953c2b
6:90461171 MDN1 A>G	6	90461171	90461171	A	G	MDN1	c.3206T>C	NM_014611.3	NP_055426.1:p.(Ile1069Thr)	NC_000006.11:g.90461171A>G	(Likely) benign	1 lab	d0a835d84b
19:51133411 SYT3 C>T	19	51133411	51133411	C	T	SYT3	c.692G>A	NM_001160329.2	NP_001153801.1:p.(Arg231Gln)	NC_000019.9:g.51133411C>T	(Likely) benign	1 lab	d0a97cd69b
15:85360790 ALPK3 G>A	15	85360790	85360790	G	A	ALPK3	c.107G>A	NM_020778.5	NP_065829.4:p.(Ser36Asn)	NC_000015.9:g.85360790G>A	VUS	1 lab	d0ad3efe89
13:113516761 ATP11A G>A	13	113516761	113516761	G	A	ATP11A	c.2863G>A	NM_015205.3	NP_056020.2:p.(Ala955Thr)	NC_000013.10:g.113516761G>A	(Likely) benign	1 lab	d0b16c0000
X:153581014 FLNA C>T	X	153581014	153581014	C	T	FLNA	c.6409G>A	NM_001110556.2	NP_001104026.1:p.(Glu2137Lys)	NC_000023.10:g.153581014C>T	VUS	1 lab	d0b38a833a
17:43313614 FMNL1 C>T	17	43313614	43313614	C	T	FMNL1	c.723+3C>T	NM_005892.4	NP_005883.3:p.?	NC_000017.10:g.43313614C>T	VUS	1 lab	d0b4228efd
7:152100743 KMT2C G>C	7	152100743	152100743	G	C	KMT2C	c.161+31968C>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152100743G>C	(Likely) benign	1 lab	d0b63164b5
16:58557268 SETD6 G>A	16	58557268	58557268	G	A	SETD6	c.*4335G>A	NM_001160305.4	NP_001153777.1:p.?	NC_000016.9:g.58557268G>A	(Likely) benign	1 lab	d0b6a03e12
6:42666061 PRPH2 T>TGCGC	6	42666061	42666062	T	TGCGC	PRPH2	c.1012_1013insGCGC	NM_000322.5	NP_000313.2:p.(Asp338GlyfsTer55)	NC_000006.11:g.42666061_42666062insGCGC	VUS	1 lab	d0b78a506f
X:24382373 SUPT20HL1 TTGCTGCTGCTGCTGCTGCTGCTGCTGC>T	X	24382373	24382428	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	T	SUPT20HL1	c.1525_1551del	NM_001136234.3	NP_001129706.3:p.(Ala509_Ala517del)	NC_000023.10:g.24382402_24382428del	(Likely) benign	1 lab	d0b7f72df7
11:113209305 TTC12 GC>G	11	113209305	113209310	GC	G	TTC12	c.577-186del	NM_017868.4	NP_060338.3:p.?	NC_000011.9:g.113209310del	(Likely) benign	1 lab	d0b86a0e11
16:2156678 PKD1 G>A	16	2156678	2156678	G	A	PKD1	c.7210C>T	NM_001009944.3	NP_001009944.3:p.(Arg2404Trp)	NC_000016.9:g.2156678G>A	VUS	1 lab	d0b8a66554
X:75003514 MAGEE2 G>C	X	75003514	75003514	G	C	MAGEE2	c.1373C>G	NM_138703.5	NP_619648.1:p.(Ser458Cys)	NC_000023.10:g.75003514G>C	VUS	1 lab	d0ba16aff6
2:86260785 POLR1A C>T	2	86260785	86260785	C	T	POLR1A	c.4160G>A	NM_015425.6	NP_056240.2:p.(Arg1387Gln)	NC_000002.11:g.86260785C>T	(Likely) benign	1 lab	d0bacd457b
17:4804912 CHRNE G>T	17	4804912	4804912	G	T	CHRNE	c.509C>A	NM_000080.4	NP_000071.1:p.(Thr170Lys)	NC_000017.10:g.4804912G>T	VUS	1 lab	d0be830bb7
5:42718612 GHR G>A	5	42718612	42718612	G	A	GHR	c.1003G>A	NM_000163.5	NP_000154.1:p.(Glu335Lys)	NC_000005.9:g.42718612G>A	(Likely) benign	1 lab	d0c2256f6a
16:2150403 PKD1 TGTC>T	16	2150403	2150408	TGTC	T	PKD1	c.9559_9561del	NM_001009944.3	NP_001009944.3:p.(Asp3187del)	NC_000016.9:g.2150406_2150408del	(Likely) pathogenic	1 lab	d0c26bcc37
16:3023158 PKMYT1 G>A	16	3023158	3023158	G	A	PKMYT1	c.1369C>T	NM_004203.5	NP_004194.3:p.(Arg457Trp)	NC_000016.9:g.3023158G>A	(Likely) benign	1 lab	d0c436309c
16:89220552 ACSF3 C>G	16	89220552	89220552	C	G	ACSF3	c.1668C>G	NM_001243279.3	NP_001230208.1:p.(Ile556Met)	NC_000016.9:g.89220552C>G	VUS	1 lab	d0c49ef0cd
12:121432124 HNF1A C>T	12	121432124	121432124	C	T	HNF1A	c.871C>T	NM_000545.8	NP_000536.6:p.(Pro291Ser)	NC_000012.11:g.121432124C>T	VUS	1 lab	d0c529bd30
17:71199837 COG1 G>T	17	71199837	71199837	G	T	COG1	c.2287G>T	NM_018714.3	NP_061184.1:p.(Ala763Ser)	NC_000017.10:g.71199837G>T	(Likely) benign	1 lab	d0c5c9ad3f
X:17743660 NHS T>A	X	17743660	17743660	T	A	NHS	c.1434T>A	NM_001291867.2	NP_001278796.1:p.(His478Gln)	NC_000023.10:g.17743660T>A	VUS	1 lab	d0c67cb441
21:47545487 COL6A2 T>C	21	47545487	47545487	T	C	COL6A2	c.1925T>C	NM_001849.4	NP_001840.3:p.(Val642Ala)	NC_000021.8:g.47545487T>C	VUS	1 lab	d0c7a37007
6:33132712 COL11A2 A>T	6	33132712	33132712	A	T	COL11A2	c.4780T>A	NM_080680.3	NP_542411.2:p.(Cys1594Ser)	NC_000006.11:g.33132712A>T	VUS	1 lab	d0c965a641
1:22211072 HSPG2 G>A	1	22211072	22211072	G	A	HSPG2	c.1603C>T	NM_005529.7	NP_005520.4:p.(Arg535Cys)	NC_000001.10:g.22211072G>A	(Likely) benign	1 lab	d0cbaa5822
20:43057110 HNF4A G>A	20	43057110	43057110	G	A	HNF4A	c.1265G>A	NM_000457.5	NP_000448.3:p.(Arg422Gln)	NC_000020.10:g.43057110G>A	VUS	1 lab	d0cc2f23eb
15:42147003 SPTBN5 G>A	15	42147003	42147003	G	A	SPTBN5	c.9595C>T	NM_016642.4	NP_057726.4:p.(Gln3199Ter)	NC_000015.9:g.42147003G>A	VUS	1 lab	d0cc7d84dc
12:2224534 CACNA1C TG>T	12	2224534	2224537	TG	T	CACNA1C	c.197del	NM_000719.7	NP_000710.5:p.(Gly66AlafsTer42)	NC_000012.11:g.2224537del	(Likely) pathogenic	1 lab	d0cd05011e
17:15950303 NCOR1 C>T	17	15950303	15950303	C	T	NCOR1	c.6641G>A	NM_006311.4	NP_006302.2:p.(Arg2214His)	NC_000017.10:g.15950303C>T	VUS	1 lab	d0cd8a10a6
1:248128725 OR2AK2 G>A	1	248128725	248128725	G	A	OR2AK2	c.47G>A	NM_001004491.2	NP_001004491.2:p.(Gly16Asp)	NC_000001.10:g.248128725G>A	(Likely) benign	1 lab	d0cd9e64f1
20:60883191 ADRM1 C>T	20	60883191	60883191	C	T	ADRM1	c.971C>T	NM_007002.4	NP_008933.2:p.(Ala324Val)	NC_000020.10:g.60883191C>T	(Likely) benign	1 lab	d0ce6d36a0
12:121431395 HNF1A G>T	12	121431395	121431395	G	T	HNF1A	c.599G>T	NM_000545.8	NP_000536.6:p.(Arg200Leu)	NC_000012.11:g.121431395G>T	(Likely) pathogenic	1 lab	d0d05509e9
9:136219574 SURF1 T>C	9	136219574	136219574	T	C	SURF1	c.563A>G	NM_003172.4	NP_003163.1:p.(Asn188Ser)	NC_000009.11:g.136219574T>C	VUS	1 lab	d0d0f6c3e8
4:998156 IDUA G>GGCCCCCATCC	4	998156	998166	G	GGCCCCCATCC	IDUA	c.1938_1947dup	NM_000203.5	NP_000194.2:p.(Pro650AlafsTer12)	NC_000004.11:g.998157_998166dup	VUS	1 lab	d0d0f8da60
11:82625848 DDIAS C>T	11	82625848	82625848	C	T	DDIAS	c.68C>T	NM_145018.4	NP_659455.3:p.(Pro23Leu)	NC_000011.9:g.82625848C>T	VUS	1 lab	d0d17419fd
6:32056709 TNXB C>T	6	32056709	32056709	C	T	TNXB	c.2632G>A	NM_001365276.2	NP_001352205.1:p.(Gly878Ser)	NC_000006.11:g.32056709C>T	VUS	1 lab	d0d23fd92f
3:100539888 ABI3BP G>A	3	100539888	100539888	G	A	ABI3BP	c.2947+10C>T	NM_001375547.2	NP_001362476.1:p.?	NC_000003.11:g.100539888G>A	(Likely) benign	1 lab	d0d25275e7
13:32900690 BRCA2 GAT>G	13	32900690	32900694	GAT	G	BRCA2	c.574_575del	NM_000059.4	NP_000050.3:p.(Met192ValfsTer13)	NC_000013.10:g.32900693_32900694del	(Likely) pathogenic	1 lab	2b9b221009
4:5746963 EVC CAAA>C	4	5746963	5746966	CAAA	C	EVC	c.835_837del	NM_153717.3	NP_714928.1:p.(Lys279del)	NC_000004.11:g.5746964_5746966del	VUS	1 lab	d0d3427b21
3:9490315 SETD5 G>C	3	9490315	9490315	G	C	SETD5	c.2052+1G>C	NM_001292043.2	NP_001278972.1:p.?	NC_000003.11:g.9490315G>C	(Likely) pathogenic	1 lab	2d88af9ed0
1:26138251 SELENON A>G	1	26138251	26138251	A	G	SELENON	c.1060A>G	NM_206926.2	NP_996809.1:p.(Ser354Gly)	NC_000001.10:g.26138251A>G	(Likely) benign	1 lab	d0d39737ee
X:3238279 MXRA5 A>C	X	3238279	3238279	A	C	MXRA5	c.5447T>G	NM_015419.4	NP_056234.2:p.(Ile1816Ser)	NC_000023.10:g.3238279A>C	VUS	1 lab	d0d590d3d8
16:72091308 HP G>A	16	72091308	72091308	G	A	HP	c.208G>A	NM_005143.5	NP_005134.1:p.(Asp70Asn)	NC_000016.9:g.72091308G>A	(Likely) benign	1 lab	d0d63ec928
21:45387986 AGPAT3 G>A	21	45387986	45387986	G	A	AGPAT3	c.338G>A	NM_020132.5	NP_064517.1:p.(Gly113Glu)	NC_000021.8:g.45387986G>A	VUS	1 lab	d0d6432138
4:48582883 FRYL T>C	4	48582883	48582883	T	C	FRYL	c.2258A>G	NM_015030.2	NP_055845.1:p.(Gln753Arg)	NC_000004.11:g.48582883T>C	(Likely) benign	1 lab	d0d74ef434
2:179410115 TTN A>G	2	179410115	179410115	A	G	TTN	c.95722T>C	NM_001267550.2	NP_001254479.2:p.(Tyr31908His)	NC_000002.11:g.179410115A>G	VUS	1 lab	d0ddeeb871
16:29809964 KIF22 C>T	16	29809964	29809964	C	T	KIF22	c.445C>T	NM_007317.3	NP_015556.1:p.(Arg149Trp)	NC_000016.9:g.29809964C>T	(Likely) benign	1 lab	d0dead29f6
14:20864818 TEP1 G>A	14	20864818	20864818	G	A	TEP1	c.1621C>T	NM_007110.5	NP_009041.2:p.(Arg541Cys)	NC_000014.8:g.20864818G>A	(Likely) benign	1 lab	d0deba38ff
8:57079092 PLAG1 T>C	8	57079092	57079092	T	C	PLAG1	c.1213A>G	NM_002655.3	NP_002646.2:p.(Ile405Val)	NC_000008.10:g.57079092T>C	VUS	1 lab	d0e21618b0
7:100404164 EPHB4 C>T	7	100404164	100404164	C	T	EPHB4	c.2362G>A	NM_004444.5	NP_004435.3:p.(Ala788Thr)	NC_000007.13:g.100404164C>T	VUS	1 lab	d0e35c42b5
6:152826350 SYNE1 A>G	6	152826350	152826350	A	G	SYNE1	c.764T>C	NM_182961.4	NP_892006.3:p.(Leu255Pro)	NC_000006.11:g.152826350A>G	VUS	1 lab	d0e36853d4
11:113234551 TTC12 CAGG>C	11	113234551	113234557	CAGG	C	TTC12	c.1722_1724del	NM_017868.4	NP_060338.3:p.(Gly575del)	NC_000011.9:g.113234555_113234557del	VUS	1 lab	d0e3f08540
17:10404776 MYH1 C>T	17	10404776	10404776	C	T	MYH1	c.3389G>A	NM_005963.4	NP_005954.3:p.(Arg1130Gln)	NC_000017.10:g.10404776C>T	VUS	1 lab	d0e4d99771
22:42607459 TCF20 G>A	22	42607459	42607459	G	A	TCF20	c.3853C>T	NM_001378418.1	NP_001365347.1:p.(Leu1285Phe)	NC_000022.10:g.42607459G>A	VUS	1 lab	d0e67ce291
16:2140484 PKD1 CAG>C	16	2140484	2140486	CAG	C	PKD1	c.12244_12245del	NM_001009944.3	NP_001009944.3:p.(Leu4082ValfsTer74)	NC_000016.9:g.2140485_2140486del	(Likely) pathogenic	1 lab	d0e8f87d58
10:90522014 LIPN C>T	10	90522014	90522014	C	T	LIPN	c.178C>T	NM_001102469.2	NP_001095939.1:p.(Leu60Phe)	NC_000010.10:g.90522014C>T	VUS	1 lab	d0e90a3917
X:150790001 PASD1 C>T	X	150790001	150790001	C	T	PASD1	c.355C>T	NM_173493.3	NP_775764.2:p.(His119Tyr)	NC_000023.10:g.150790001C>T	VUS	1 lab	d0e96e7a26
15:63958222 HERC1 G>A	15	63958222	63958222	G	A	HERC1	c.8451C>T	NM_003922.4	NP_003913.3:p.(Ala2817=)	NC_000015.9:g.63958222G>A	(Likely) benign	1 lab	d0e99e1964
3:39425227 SLC25A38 C>T	3	39425227	39425227	C	T	SLC25A38	c.12C>T	NM_017875.4	NP_060345.2:p.(Asn4=)	NC_000003.11:g.39425227C>T	(Likely) benign	1 lab	d0eace9224
7:6037057 PMS2 G>A	7	6037057	6037057	G	A	PMS2	c.706-3C>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037057G>A	(Likely) benign	1 lab	d1910e72e4
19:14200862 SAMD1 TGCGGCG>T	19	14200862	14200876	TGCGGCG	T	SAMD1	c.683_688del	NM_138352.3	NP_612361.1:p.(Pro228_Pro229del)	NC_000019.9:g.14200871_14200876del	VUS	1 lab	d0ead41e14
5:1221366 SLC6A19 CTCT>C	5	1221366	1221377	CTCT	C	SLC6A19	c.1648_1650del	NM_001003841.3	NP_001003841.1:p.(Phe550del)	NC_000005.9:g.1221375_1221377del	VUS	1 lab	d0ef81e16b
15:44705593 GOLM2 G>T	15	44705593	44705593	G	T	GOLM2	c.1300G>T	NM_138423.4	NP_612432.2:p.(Asp434Tyr)	NC_000015.9:g.44705593G>T	VUS	1 lab	d0f07036e3
6:118812964 CEP85L T>C	6	118812964	118812964	T	C	CEP85L	c.1322A>G	NM_001042475.3	NP_001035940.1:p.(Gln441Arg)	NC_000006.11:g.118812964T>C	(Likely) benign	1 lab	d0f1e1b068
11:45975125 PHF21A T>C	11	45975125	45975125	T	C	PHF21A	c.1048A>G	NM_001352027.3	NP_001338956.1:p.(Ile350Val)	NC_000011.9:g.45975125T>C	VUS	1 lab	d0f2ef52f1
2:178301716 AGPS C>T	2	178301716	178301716	C	T	AGPS	c.571C>T	NM_003659.4	NP_003650.1:p.(Leu191Phe)	NC_000002.11:g.178301716C>T	VUS	1 lab	d0f4a90ad2
15:48712976 FBN1 C>A	15	48712976	48712976	C	A	FBN1	c.7727G>T	NM_000138.5	NP_000129.3:p.(Arg2576Leu)	NC_000015.9:g.48712976C>A	VUS	1 lab	d0f519b256
1:240371330 FMN2 G>C	1	240371330	240371330	G	C	FMN2	c.3218G>C	NM_020066.5	NP_064450.3:p.(Gly1073Ala)	NC_000001.10:g.240371330G>C	VUS	1 lab	d0f5c2c910
1:39898777 MACF1 C>T	1	39898777	39898777	C	T	MACF1	c.17515C>T	NM_001394062.1	NP_001380991.1:p.(Arg5839Cys)	NC_000001.10:g.39898777C>T	(Likely) benign	1 lab	d0f5f000a0
5:118468952 DMXL1 G>A	5	118468952	118468952	G	A	DMXL1	c.1441G>A	NM_001290321.3	NP_001277250.1:p.(Val481Ile)	NC_000005.9:g.118468952G>A	VUS	1 lab	d0f65943e2
8:100712250 VPS13B T>C	8	100712250	100712250	T	C	VPS13B	c.6529+90T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100712250T>C	(Likely) benign	1 lab	2d8a1750ff
15:30900907 GOLGA8H TAGAG>T	15	30900907	30900913	TAGAG	T	GOLGA8H	c.542_545del	NM_001282490.2	NP_001269419.1:p.(Glu181ValfsTer29)	NC_000015.9:g.30900910_30900913del	(Likely) benign	1 lab	d0f70f09b5
8:68123741 ARFGEF1 ACTT>A	8	68123741	68123748	ACTT	A	ARFGEF1	c.4793_4795del	NM_006421.5	NP_006412.2:p.(Glu1598del)	NC_000008.10:g.68123746_68123748del	VUS	1 lab	d0f7792466
7:103270629 RELN GA>G	7	103270629	103270640	GA	G	RELN	c.2466-7del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103270640del	(Likely) benign	1 lab	d0f7bc7f07
21:47552429 COL6A2 C>G	21	47552429	47552429	C	G	COL6A2	c.3023C>G	NM_001849.4	NP_001840.3:p.(Pro1008Arg)	NC_000021.8:g.47552429C>G	VUS	1 lab	d0f87feb3f
20:35783536 MROH8 TG>T	20	35783536	35783538	TG	T	MROH8	c.1033del	NM_152503.8	NP_689716.4:p.(His345MetfsTer14)	NC_000020.10:g.35783538del	VUS	1 lab	d0fad295fa
18:29598983 RNF125 G>A	18	29598983	29598983	G	A	RNF125	c.157G>A	NM_017831.4	NP_060301.2:p.(Gly53Ser)	NC_000018.9:g.29598983G>A	VUS	1 lab	d0fc7e8c6d
19:15276752 NOTCH3 G>A	19	15276752	15276752	G	A	NOTCH3	c.5513C>T	NM_000435.3	NP_000426.2:p.(Thr1838Ile)	NC_000019.9:g.15276752G>A	VUS	1 lab	d0fdd0613e
14:21854231 CHD8 C>T	14	21854231	21854231	C	T	CHD8	c.7287G>A	NM_001170629.2	NP_001164100.1:p.(Met2429Ile)	NC_000014.8:g.21854231C>T	(Likely) benign	1 lab	d0fe3ae3e1
15:89379445 ACAN C>A	15	89379445	89379445	C	A	ACAN	c.8C>A	NM_001369268.1	NP_001356197.1:p.(Thr3Asn)	NC_000015.9:g.89379445C>A	VUS	1 lab	d1009ed274
17:8135800 CTC1 G>C	17	8135800	8135800	G	C	CTC1	c.1946-7C>G	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8135800G>C	VUS	1 lab	d1450cb535
19:39416947 SARS2 T>G	19	39416947	39416947	T	G	SARS2	c.268-7A>C	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39416947T>G	(Likely) benign	1 lab	d100c8346c
5:176720828 NSD1 T>C	5	176720828	176720828	T	C	NSD1	c.6464-5T>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176720828T>C	VUS	1 lab	d100f92239
10:298361 ZMYND11 A>G	10	298361	298361	A	G	ZMYND11	c.1760A>G	NM_001370100.5	NP_001357029.1:p.(Gln587Arg)	NC_000010.10:g.298361A>G	VUS	1 lab	d101fad86f
10:61832214 ANK3 C>G	10	61832214	61832214	C	G	ANK3	c.8425G>C	NM_020987.5	NP_066267.2:p.(Val2809Leu)	NC_000010.10:g.61832214C>G	VUS	1 lab	d10238cef1
16:17228363 XYLT1 G>A	16	17228363	17228363	G	A	XYLT1	c.1994C>T	NM_022166.4	NP_071449.1:p.(Thr665Met)	NC_000016.9:g.17228363G>A	(Likely) benign	1 lab	d10255511f
9:124076229 GSN G>A	9	124076229	124076229	G	A	GSN	c.681G>A	NM_198252.3	NP_937895.1:p.(Pro227=)	NC_000009.11:g.124076229G>A	(Likely) benign	1 lab	d1029f67e4
9:100447259 XPA G>A	9	100447259	100447259	G	A	XPA	c.619C>T	NM_000380.4	NP_000371.1:p.(Arg207Ter)	NC_000009.11:g.100447259G>A	(Likely) pathogenic	1 lab	d104f48062
X:140994005 MAGEC1 T>G	X	140994005	140994005	T	G	MAGEC1	c.815T>G	NM_005462.5	NP_005453.2:p.(Val272Gly)	NC_000023.10:g.140994005T>G	VUS	1 lab	d107be8113
2:179528343 TTN G>T	2	179528343	179528343	G	T	TTN	c.36532+11C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528343G>T	(Likely) benign	1 lab	d1083f8b3c
15:52667640 MYO5A C>T	15	52667640	52667640	C	T	MYO5A	c.2438G>A	NM_001382347.1	NP_001369276.1:p.(Arg813His)	NC_000015.9:g.52667640C>T	VUS	1 lab	d10860e1a4
2:108626880 SLC5A7 G>A	2	108626880	108626880	G	A	SLC5A7	c.1306G>A	NM_021815.5	NP_068587.1:p.(Val436Met)	NC_000002.11:g.108626880G>A	VUS	1 lab	d10a97eb2a
X:100382175 CENPI G>A	X	100382175	100382175	G	A	CENPI	c.826G>A	NM_001386188.2	NP_001373117.1:p.(Val276Met)	NC_000023.10:g.100382175G>A	VUS	1 lab	d10d3e1fe9
X:46943955 RGN G>A	X	46943955	46943955	G	A	RGN	c.302G>A	NM_152869.4	NP_690608.1:p.(Arg101His)	NC_000023.10:g.46943955G>A	VUS	1 lab	d110753b9d
22:39425433 APOBEC3D G>A	22	39425433	39425433	G	A	APOBEC3D	c.671G>A	NM_152426.4	NP_689639.2:p.(Cys224Tyr)	NC_000022.10:g.39425433G>A	(Likely) benign	1 lab	d1118e0c77
12:49434708 KMT2D C>T	12	49434708	49434708	C	T	KMT2D	c.6845G>A	NM_003482.4	NP_003473.3:p.(Arg2282Gln)	NC_000012.11:g.49434708C>T	VUS	1 lab	d112cd4211
13:113053466 SPACA7 G>C	13	113053466	113053466	G	C	SPACA7	c.328G>C	NM_145248.5	NP_660291.2:p.(Glu110Gln)	NC_000013.10:g.113053466G>C	VUS	1 lab	d11310164b
9:118949512 PAPPA C>A	9	118949512	118949512	C	A	PAPPA	c.495C>A	NM_002581.5	NP_002572.2:p.(Asn165Lys)	NC_000009.11:g.118949512C>A	(Likely) benign	1 lab	d1159ce81f
X:118250601 KIAA1210 G>T	X	118250601	118250601	G	T	KIAA1210	c.88C>A	NM_001394962.1	NP_001381891.1:p.(Leu30Ile)	NC_000023.10:g.118250601G>T	(Likely) benign	1 lab	d1166b0c5e
7:73449708 ELN A>G	7	73449708	73449708	A	G	ELN	c.97A>G	NM_000501.4	NP_000492.2:p.(Ile33Val)	NC_000007.13:g.73449708A>G	VUS	1 lab	d118976311
18:31323096 ASXL3 A>T	18	31323096	31323096	A	T	ASXL3	c.3284A>T	NM_030632.3	NP_085135.1:p.(Lys1095Met)	NC_000018.9:g.31323096A>T	VUS	1 lab	2ba107b9b4
16:71885540 ATXN1L C>G	16	71885540	71885540	C	G	ATXN1L	c.1897C>G	NM_001137675.4	NP_001131147.1:p.(Arg633Gly)	NC_000016.9:g.71885540C>G	VUS	1 lab	d11cb7786c
11:17482192 ABCC8 C>T	11	17482192	17482192	C	T	ABCC8	c.854G>A	NM_000352.6	NP_000343.2:p.(Arg285Gln)	NC_000011.9:g.17482192C>T	(Likely) benign	1 lab	d11eb14446
6:21595126 SOX4 G>A	6	21595126	21595126	G	A	SOX4	c.361G>A	NM_003107.3	NP_003098.1:p.(Ala121Thr)	NC_000006.11:g.21595126G>A	VUS	1 lab	d11ee403db
10:47701017 ANTXRL C>G	10	47701017	47701017	C	G	ANTXRL	c.1593C>G	NM_001278688.3	NP_001265617.1:p.(Asn531Lys)	NC_000010.10:g.47701017C>G	(Likely) benign	1 lab	d11efe20a4
11:105623907 GRIA4 G>A	11	105623907	105623907	G	A	GRIA4	c.448G>A	NM_000829.4	NP_000820.4:p.(Glu150Lys)	NC_000011.9:g.105623907G>A	(Likely) benign	1 lab	d12057d70b
4:5812066 EVC A>G	4	5812066	5812066	A	G	EVC	c.2783A>G	NM_153717.3	NP_714928.1:p.(Glu928Gly)	NC_000004.11:g.5812066A>G	VUS	1 lab	d121ba1baf
3:57994830 FLNB G>A	3	57994830	57994830	G	A	FLNB	c.292+247G>A	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.57994830G>A	(Likely) benign	1 lab	d124803673
1:152284961 FLG T>C	1	152284961	152284961	T	C	FLG	c.2401A>G	NM_002016.2	NP_002007.1:p.(Lys801Glu)	NC_000001.10:g.152284961T>C	(Likely) benign	1 lab	d1253eb26f
X:63488524 MTMR8 A>T	X	63488524	63488524	A	T	MTMR8	c.2008T>A	NM_017677.4	NP_060147.2:p.(Leu670Met)	NC_000023.10:g.63488524A>T	(Likely) benign	1 lab	d1258b1f86
16:58612596 CNOT1 A>T	16	58612596	58612596	A	T	CNOT1	c.1584+7T>A	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58612596A>T	(Likely) benign	1 lab	d127256caf
11:17498219 ABCC8 C>T	11	17498219	17498219	C	T	ABCC8	c.105G>A	NM_000352.6	NP_000343.2:p.(Pro35=)	NC_000011.9:g.17498219C>T	(Likely) benign	1 lab	d127dcc9aa
18:2729382 SMCHD1 C>T	18	2729382	2729382	C	T	SMCHD1	c.3023C>T	NM_015295.3	NP_056110.2:p.(Thr1008Met)	NC_000018.9:g.2729382C>T	VUS	1 lab	d12899ceee
3:78737842 ROBO1 C>T	3	78737842	78737842	C	T	ROBO1	c.1126G>A	NM_002941.4	NP_002932.1:p.(Gly376Arg)	NC_000003.11:g.78737842C>T	VUS	1 lab	d1291e7e60
17:41226370 BRCA1 A>G	17	41226370	41226370	A	G	BRCA1	c.4653T>C	NM_007294.4	NP_009225.1:p.(Ser1551=)	NC_000017.10:g.41226370A>G	(Likely) benign	1 lab	d12a6fa1a8
12:49722764 TROAP C>T	12	49722764	49722764	C	T	TROAP	c.946C>T	NM_005480.4	NP_005471.3:p.(Pro316Ser)	NC_000012.11:g.49722764C>T	VUS	1 lab	d12a9ba949
6:39285581 KCNK16 T>G	6	39285581	39285581	T	G	KCNK16	c.476A>C	NM_001135106.2	NP_001128578.1:p.(Asp159Ala)	NC_000006.11:g.39285581T>G	VUS	1 lab	d12c1e1c90
11:66617502 PC G>A	11	66617502	66617502	G	A	PC	c.2804C>T	NM_001040716.2	NP_001035806.1:p.(Ala935Val)	NC_000011.9:g.66617502G>A	VUS	1 lab	d12cbf6683
7:76112199 DTX2 C>T	7	76112199	76112199	C	T	DTX2	c.643C>T	NM_001102594.3	NP_001096064.1:p.(Arg215Cys)	NC_000007.13:g.76112199C>T	VUS	1 lab	d12d709dd7
7:149419571 KRABD3 G>GGCC	7	149419571	149419572	G	GGCC	KRABD3	c.627_628insGCC	NM_001290187.2	NP_001277116.1:p.(Glu209_Pro210insAla)	NC_000007.13:g.149419571_149419572insGCC	(Likely) benign	1 lab	d12fef9c24
6:121629208 TBC1D32 G>C	6	121629208	121629208	G	C	TBC1D32	c.604C>G	NM_152730.6	NP_689943.4:p.(Pro202Ala)	NC_000006.11:g.121629208G>C	(Likely) benign	1 lab	d1305175ca
15:51250965 AP4E1 G>C	15	51250965	51250965	G	C	AP4E1	c.1825G>C	NM_007347.5	NP_031373.2:p.(Val609Leu)	NC_000015.9:g.51250965G>C	(Likely) benign	1 lab	d131a6c4ab
5:37014817 NIPBL T>C	5	37014817	37014817	T	C	NIPBL	c.4593T>C	NM_133433.4	NP_597677.2:p.(Tyr1531=)	NC_000005.9:g.37014817T>C	VUS	1 lab	2ba3176a05
4:6303279 WFS1 C>G	4	6303279	6303279	C	G	WFS1	c.1757C>G	NM_006005.3	NP_005996.2:p.(Ala586Gly)	NC_000004.11:g.6303279C>G	(Likely) benign	1 lab	d132869a98
5:172750213 STC2 A>T	5	172750213	172750213	A	T	STC2	c.506+9T>A	NM_003714.3	NP_003705.1:p.?	NC_000005.9:g.172750213A>T	(Likely) benign	1 lab	d132dc6e7e
2:152586142 NEB T>C	2	152586142	152586142	T	C	NEB	c.65A>G	NM_001164508.2	NP_001157980.2:p.(Glu22Gly)	NC_000002.11:g.152586142T>C	VUS	1 lab	d133e77153
2:86269062 POLR1A C>A	2	86269062	86269062	C	A	POLR1A	c.3522G>T	NM_015425.6	NP_056240.2:p.(Trp1174Cys)	NC_000002.11:g.86269062C>A	(Likely) benign	1 lab	d1350642af
17:36047399 HNF1B C>CAG	17	36047399	36047409	C	CAG	HNF1B	c.1654-6_1654-5dup	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047408_36047409dup	(Likely) benign	1 lab	d135923731
16:58749994 GOT2 T>C	16	58749994	58749994	T	C	GOT2	c.943A>G	NM_002080.4	NP_002071.2:p.(Met315Val)	NC_000016.9:g.58749994T>C	(Likely) benign	1 lab	d13a6bf1e0
14:74995229 LTBP2 G>T	14	74995229	74995229	G	T	LTBP2	c.2325C>A	NM_000428.3	NP_000419.1:p.(Val775=)	NC_000014.8:g.74995229G>T	(Likely) benign	1 lab	d13ab3c583
1:5935016 NPHP4 C>T	1	5935016	5935016	C	T	NPHP4	c.2962G>A	NM_015102.5	NP_055917.1:p.(Ala988Thr)	NC_000001.10:g.5935016C>T	(Likely) benign	1 lab	d13b7551d4
1:22186375 HSPG2 C>T	1	22186375	22186375	C	T	HSPG2	c.5135G>A	NM_005529.7	NP_005520.4:p.(Arg1712His)	NC_000001.10:g.22186375C>T	(Likely) benign	1 lab	d13d00a68b
8:144998149 PLEC C>T	8	144998149	144998149	C	T	PLEC	c.6029G>A	NM_000445.5	NP_000436.2:p.(Arg2010His)	NC_000008.10:g.144998149C>T	VUS	1 lab	2ba8dd8d75
X:47847956 ZNF182 A>C	X	47847956	47847956	A	C	ZNF182	c.16-5145T>G	NM_001007088.2	NP_001007089.1:p.?	NC_000023.10:g.47847956A>C	VUS	1 lab	d13d9e5304
8:18076982 NAT1 T>C	8	18076982	18076982	T	C	NAT1	c.-23T>C	NM_000662.8	NP_000653.3:p.?	NC_000008.10:g.18076982T>C	VUS	1 lab	d13e29dfbe
11:119210896 C1QTNF5 G>T	11	119210896	119210896	G	T	C1QTNF5	c.212C>A	NM_001278431.2	NP_001265360.1:p.(Pro71Gln)	NC_000011.9:g.119210896G>T	(Likely) benign	1 lab	d13f4bd743
16:2167550 PKD1 G>A	16	2167550	2167550	G	A	PKD1	c.1325C>T	NM_001009944.3	NP_001009944.3:p.(Ala442Val)	NC_000016.9:g.2167550G>A	VUS	1 lab	d140f30f0a
7:138833097 IFT56 C>T	7	138833097	138833097	C	T	IFT56	c.691C>T	NM_024926.4	NP_079202.2:p.(Arg231Cys)	NC_000007.13:g.138833097C>T	VUS	1 lab	d141a6f81b
2:121740305 GLI2 C>T	2	121740305	121740305	C	T	GLI2	c.1481C>T	NM_001374353.1	NP_001361282.1:p.(Ser494Leu)	NC_000002.11:g.121740305C>T	VUS	1 lab	d1427860f6
1:228466639 OBSCN C>T	1	228466639	228466639	C	T	OBSCN	c.8396C>T	NM_001386125.1	NP_001373054.1:p.(Ala2799Val)	NC_000001.10:g.228466639C>T	VUS	1 lab	d14369503c
17:78071083 CCDC40 G>T	17	78071083	78071083	G	T	CCDC40	c.3061G>T	NM_017950.4	NP_060420.2:p.(Glu1021Ter)	NC_000017.10:g.78071083G>T	(Likely) pathogenic	1 lab	2ba9a8b764
15:28447404 HERC2 G>C	15	28447404	28447404	G	C	HERC2	c.7481-9C>G	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28447404G>C	(Likely) benign	1 lab	d147501656
7:44192889 GCK C>T	7	44192889	44192889	C	T	GCK	c.208+11G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44192889C>T	(Likely) benign	1 lab	d1484b9e63
4:2833369 SH3BP2 A>G	4	2833369	2833369	A	G	SH3BP2	c.1313A>G	NM_001122681.2	NP_001116153.1:p.(Asp438Gly)	NC_000004.11:g.2833369A>G	(Likely) benign	1 lab	d148c41b31
1:184663441 EDEM3 A>AT	1	184663441	184663442	A	AT	EDEM3	c.2554dup	NM_025191.4	NP_079467.3:p.(Met852AsnfsTer11)	NC_000001.10:g.184663442dup	VUS	1 lab	d14925ac14
X:83128220 CYLC1 A>T	X	83128220	83128220	A	T	CYLC1	c.504A>T	NM_021118.3	NP_066941.1:p.(Glu168Asp)	NC_000023.10:g.83128220A>T	(Likely) benign	1 lab	d14a589a2e
1:186084070 HMCN1 AG>A	1	186084070	186084072	AG	A	HMCN1	c.11398del	NM_031935.3	NP_114141.2:p.(Val3800SerfsTer14)	NC_000001.10:g.186084072del	VUS	1 lab	d14ad3cf5a
12:53343209 KRT18 G>A	12	53343209	53343209	G	A	KRT18	c.252G>A	NM_000224.3	NP_000215.1:p.(Met84Ile)	NC_000012.11:g.53343209G>A	(Likely) benign	1 lab	d14adfcb32
6:30877809 GTF2H4 C>T	6	30877809	30877809	C	T	GTF2H4	c.343C>T	NM_001517.5	NP_001508.1:p.(Arg115Cys)	NC_000006.11:g.30877809C>T	VUS	1 lab	d14b09b74e
15:29088158 GOLGA6L7 CT>C	15	29088158	29088160	CT	C	GOLGA6L7	c.1091del	NM_001365371.2	NP_001352300.1:p.(Lys364SerfsTer6)	NC_000015.9:g.29088160del	VUS	1 lab	d1556d4ca8
17:73774813 H3-3B G>A	17	73774813	73774813	G	A	H3-3B	c.283-9C>T	NM_005324.5	NP_005315.1:p.?	NC_000017.10:g.73774813G>A	(Likely) benign	1 lab	d156ffb956
16:53496454 RBL2 A>C	16	53496454	53496454	A	C	RBL2	c.1457-10A>C	NM_005611.4	NP_005602.3:p.?	NC_000016.9:g.53496454A>C	(Likely) benign	1 lab	d15730eed3
5:14711333 ANKH GATGTCTGTCACCTCCTCTGTCGGAGGC>G	5	14711333	14711370	GATGTCTGTCACCTCCTCTGTCGGAGGC	G	ANKH	c.1425_1451del	NM_054027.6	NP_473368.1:p.(Met475_Asp483del)	NC_000005.9:g.14711344_14711370del	VUS	1 lab	d159458dda
6:7585351 DSP T>C	6	7585351	7585351	T	C	DSP	c.7856T>C	NM_004415.2	NP_004406.2:p.(Ile2619Thr)	NC_000006.11:g.7585351T>C	VUS	1 lab	2d8f7bdd53
3:180693153 FXR1 C>A	3	180693153	180693153	C	A	FXR1	c.1656C>A	NM_005087.4	NP_005078.2:p.(Asn552Lys)	NC_000003.11:g.180693153C>A	VUS	1 lab	d15a289aa7
1:182026278 ZNF648 G>A	1	182026278	182026278	G	A	ZNF648	c.868C>T	NM_001009992.1	NP_001009992.1:p.(His290Tyr)	NC_000001.10:g.182026278G>A	(Likely) benign	1 lab	d15a4729cf
16:88789569 PIEZO1 G>A	16	88789569	88789569	G	A	PIEZO1	c.4439-10C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88789569G>A	(Likely) benign	1 lab	d15b30e805
2:109388175 RANBP2 C>T	2	109388175	109388175	C	T	RANBP2	c.7868C>T	NM_006267.5	NP_006258.3:p.(Pro2623Leu)	NC_000002.11:g.109388175C>T	(Likely) benign	1 lab	d15b69025a
2:179452865 TTN T>A	2	179452865	179452865	T	A	TTN	c.63269A>T	NM_001267550.2	NP_001254479.2:p.(Tyr21090Phe)	NC_000002.11:g.179452865T>A	VUS	1 lab	d15f36ada6
22:32017756 PISD G>A	22	32017756	32017756	G	A	PISD	c.437C>T	NM_001326411.2	NP_001313340.1:p.(Thr146Met)	NC_000022.10:g.32017756G>A	VUS	1 lab	d15f6dcd5d
1:228564491 OBSCN C>T	1	228564491	228564491	C	T	OBSCN	c.25829-3C>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228564491C>T	(Likely) benign	1 lab	d15fd9f9c6
2:165997172 SCN3A G>A	2	165997172	165997172	G	A	SCN3A	c.2008C>T	NM_006922.4	NP_008853.3:p.(Leu670Phe)	NC_000002.11:g.165997172G>A	(Likely) benign	1 lab	d15ff7c9c4
3:52524099 NISCH CGAG>C	3	52524099	52524105	CGAG	C	NISCH	c.3469_3471del	NM_007184.4	NP_009115.3:p.(Glu1157del)	NC_000003.11:g.52524103_52524105del	VUS	1 lab	d1605aa851
5:176824080 SLC34A1 G>A	5	176824080	176824080	G	A	SLC34A1	c.1416+5G>A	NM_003052.5	NP_003043.3:p.?	NC_000005.9:g.176824080G>A	VUS	1 lab	d160c6b239
4:1719952 TMEM129 A>T	4	1719952	1719952	A	T	TMEM129	c.607T>A	NM_001127266.2	NP_001120738.1:p.(Ser203Thr)	NC_000004.11:g.1719952A>T	VUS	1 lab	d16284af98
11:70172819 PPFIA1 C>T	11	70172819	70172819	C	T	PPFIA1	c.825C>T	NM_003626.5	NP_003617.1:p.(Ser275=)	NC_000011.9:g.70172819C>T	(Likely) benign	1 lab	d165ae5de6
16:1259282 CACNA1H G>A	16	1259282	1259282	G	A	CACNA1H	c.3614G>A	NM_021098.3	NP_066921.2:p.(Arg1205Gln)	NC_000016.9:g.1259282G>A	(Likely) benign	1 lab	d166254a51
9:135942221 CEL G>A	9	135942221	135942221	G	A	CEL	c.670-4G>A	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942221G>A	(Likely) benign	1 lab	d1672b2c84
3:71102906 FOXP1 T>C	3	71102906	71102906	T	C	FOXP1	c.301A>G	NM_001349338.3	NP_001336267.1:p.(Met101Val)	NC_000003.11:g.71102906T>C	VUS	1 lab	d168e613b4
2:186658899 FSIP2 G>C	2	186658899	186658899	G	C	FSIP2	c.7036G>C	NM_173651.4	NP_775922.3:p.(Ala2346Pro)	NC_000002.11:g.186658899G>C	(Likely) benign	1 lab	d16b53968b
1:9778852 PIK3CD G>A	1	9778852	9778852	G	A	PIK3CD	c.1121G>A	NM_005026.3	NP_005017.3:p.(Arg374Gln)	NC_000001.10:g.9778852G>A	(Likely) benign	1 lab	2d9211037c
15:89398826 ACAN A>G	15	89398826	89398826	A	G	ACAN	c.3010A>G	NM_001369268.1	NP_001356197.1:p.(Thr1004Ala)	NC_000015.9:g.89398826A>G	(Likely) benign	1 lab	d16c90c9e7
1:225511957 DNAH14 C>T	1	225511957	225511957	C	T	DNAH14	c.9529C>T	NM_001367479.1	NP_001354408.1:p.(Pro3177Ser)	NC_000001.10:g.225511957C>T	VUS	1 lab	d16d1782c3
4:103553303 MANBA G>A	4	103553303	103553303	G	A	MANBA	c.2551C>T	NM_005908.4	NP_005899.3:p.(Arg851Ter)	NC_000004.11:g.103553303G>A	VUS	1 lab	2d9c932e6d
11:67053868 GRK2 G>A	11	67053868	67053868	G	A	GRK2	c.*947G>A	NM_001619.5	NP_001610.2:p.?	NC_000011.9:g.67053868G>A	VUS	1 lab	d16d3fe897
14:45494983 TOGARAM1 C>T	14	45494983	45494983	C	T	TOGARAM1	c.3239-3C>T	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45494983C>T	VUS	1 lab	d17fe9b6ad
8:68107766 CSPP1 C>T	8	68107766	68107766	C	T	CSPP1	c.3604C>T	NM_024790.6	NP_079066.5:p.(Gln1202Ter)	NC_000008.10:g.68107766C>T	VUS	1 lab	2d9d599de8
1:89655720 GBP4 C>T	1	89655720	89655720	C	T	GBP4	c.1197+1G>A	NM_052941.5	NP_443173.2:p.?	NC_000001.10:g.89655720C>T	VUS	1 lab	d170be102a
15:56395780 RFX7 G>A	15	56395780	56395780	G	A	RFX7	c.490C>T	NM_022841.7	NP_073752.6:p.(Arg164Cys)	NC_000015.9:g.56395780G>A	VUS	1 lab	d17142721a
5:63509781 RNF180 T>G	5	63509781	63509781	T	G	RNF180	c.628T>G	NM_001113561.2	NP_001107033.1:p.(Phe210Val)	NC_000005.9:g.63509781T>G	VUS	1 lab	d172c33f2d
X:21997075 SMS C>G	X	21997075	21997075	C	G	SMS	c.741C>G	NM_004595.5	NP_004586.2:p.(Asp247Glu)	NC_000023.10:g.21997075C>G	VUS	1 lab	d177aabd15
19:54418618 CACNG7 G>A	19	54418618	54418618	G	A	CACNG7	c.284-1G>A	NM_031896.5	NP_114102.2:p.?	NC_000019.9:g.54418618G>A	VUS	1 lab	d178848a0c
19:7675781 CAMSAP3 C>T	19	7675781	7675781	C	T	CAMSAP3	c.1013C>T	NM_020902.2	NP_065953.1:p.(Thr338Ile)	NC_000019.9:g.7675781C>T	VUS	1 lab	d17c8eeef5
16:68358663 PRMT7 C>T	16	68358663	68358663	C	T	PRMT7	c.210C>T	NM_019023.5	NP_061896.1:p.(Asp70=)	NC_000016.9:g.68358663C>T	VUS	1 lab	d17cbaad05
2:239159239 PER2 C>A	2	239159239	239159239	C	A	PER2	c.3420G>T	NM_022817.3	NP_073728.1:p.(Met1140Ile)	NC_000002.11:g.239159239C>A	(Likely) benign	1 lab	d17d342c49
10:82036269 MAT1A C>T	10	82036269	82036269	C	T	MAT1A	c.631G>A	NM_000429.3	NP_000420.1:p.(Glu211Lys)	NC_000010.10:g.82036269C>T	VUS	1 lab	d17fa4faaf
22:50315904 CRELD2 TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC>T	22	50315904	50315970	TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC	T	CRELD2	c.593-327_593-290del	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50315933_50315970del	(Likely) benign	1 lab	d1837f0e1c
4:72222833 SLC4A4 A>G	4	72222833	72222833	A	G	SLC4A4	c.659A>G	NM_001098484.3	NP_001091954.1:p.(Asn220Ser)	NC_000004.11:g.72222833A>G	VUS	1 lab	d1845c6fb5
18:19762989 GATA6 A>G	18	19762989	19762989	A	G	GATA6	c.1605A>G	NM_005257.6	NP_005248.2:p.(Gln535=)	NC_000018.9:g.19762989A>G	(Likely) benign	1 lab	d185c859e8
16:89349688 ANKRD11 CCTT>C	16	89349688	89349696	CCTT	C	ANKRD11	c.3259_3261del	NM_013275.6	NP_037407.4:p.(Lys1087del)	NC_000016.9:g.89349694_89349696del	VUS	1 lab	d1867f4860
2:219000267 CXCR2 G>A	2	219000267	219000267	G	A	CXCR2	c.743G>A	NM_001557.4	NP_001548.1:p.(Arg248Gln)	NC_000002.11:g.219000267G>A	(Likely) benign	1 lab	2da0784c0f
2:176957801 HOXD13 AGCGGCGGCT>A	2	176957801	176957818	AGCGGCGGCT	A	HOXD13	c.192_200del	NM_000523.4	NP_000514.2:p.(Ala69_Ala71del)	NC_000002.11:g.176957810_176957818del	(Likely) benign	1 lab	d188eb0f91
18:44561136 KATNAL2 C>G	18	44561136	44561136	C	G	KATNAL2	c.52-11692C>G	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44561136C>G	(Likely) benign	1 lab	d1899b7361
12:102141013 GNPTAB C>T	12	102141013	102141013	C	T	GNPTAB	c.3700G>A	NM_024312.5	NP_077288.2:p.(Ala1234Thr)	NC_000012.11:g.102141013C>T	VUS	1 lab	d18cf1bc9f
6:74190095 MTO1 G>A	6	74190095	74190095	G	A	MTO1	c.1129+246G>A	NM_012123.4	NP_036255.2:p.?	NC_000006.11:g.74190095G>A	(Likely) benign	1 lab	d18fd9bcda
16:51173146 SALL1 C>T	16	51173146	51173146	C	T	SALL1	c.2987G>A	NM_002968.3	NP_002959.2:p.(Gly996Asp)	NC_000016.9:g.51173146C>T	(Likely) benign	1 lab	d19015a334
18:50432602 DCC C>G	18	50432602	50432602	C	G	DCC	c.601C>G	NM_005215.4	NP_005206.2:p.(Arg201Gly)	NC_000018.9:g.50432602C>G	(Likely) benign	1 lab	2baf3424fb
14:31549825 AP4S1 G>A	14	31549825	31549825	G	A	AP4S1	c.306+35G>A	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31549825G>A	VUS	1 lab	d19191cc4c
16:2816206 SRRM2 TCAC>T	16	2816206	2816211	TCAC	T	SRRM2	c.5680_5682del	NM_016333.4	NP_057417.3:p.(Pro1894del)	NC_000016.9:g.2816209_2816211del	(Likely) benign	1 lab	d19219abfd
7:6026425 PMS2 A>AT	7	6026425	6026429	A	AT	PMS2	c.1970dup	NM_000535.7	NP_000526.2:p.(Asn657LysfsTer7)	NC_000007.13:g.6026429dup	(Likely) pathogenic	1 lab	d19333f7cb
14:101350480 RTL1 A>G	14	101350480	101350480	A	G	RTL1	c.646T>C	NM_001134888.3	NP_001128360.1:p.(Phe216Leu)	NC_000014.8:g.101350480A>G	VUS	1 lab	d1933c0d0e
3:55514843 WNT5A G>C	3	55514843	55514843	G	C	WNT5A	c.110C>G	NM_003392.7	NP_003383.4:p.(Ala37Gly)	NC_000003.11:g.55514843G>C	(Likely) benign	1 lab	d195891b48
4:1795701 FGFR3 G>GTGGCCA	4	1795701	1795708	G	GTGGCCA	FGFR3	c.42_47dup	NM_000142.5	NP_000133.1:p.(Ala15_Ile16insMetAla)	NC_000004.11:g.1795703_1795708dup	VUS	1 lab	d196006cff
15:43318865 UBR1 A>C	15	43318865	43318865	A	C	UBR1	c.2433-4T>G	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43318865A>C	VUS	1 lab	d196608c49
5:140731049 PCDHGA1 CGGGAGCAGAC>AGGGAGCAGAA	5	140731049	140731059	CGGGAGCAGAC	AGGGAGCAGAA	PCDHGA1	c.2421+18377_2421+18387delinsAGGGAGCAGAA	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140731049_140731059delinsAGGGAGCAGAA	(Likely) benign	1 lab	d196a45a4e
2:220337690 SPEG G>A	2	220337690	220337690	G	A	SPEG	c.4019G>A	NM_005876.5	NP_005867.3:p.(Arg1340Gln)	NC_000002.11:g.220337690G>A	(Likely) benign	1 lab	d196aa1039
14:104639536 KIF26A C>T	14	104639536	104639536	C	T	KIF26A	c.1643C>T	NM_015656.2	NP_056471.1:p.(Pro548Leu)	NC_000014.8:g.104639536C>T	VUS	1 lab	d196f64bca
4:96051172 BMPR1B C>G	4	96051172	96051172	C	G	BMPR1B	c.745C>G	NM_001203.3	NP_001194.1:p.(Gln249Glu)	NC_000004.11:g.96051172C>G	VUS	1 lab	d197cffd01
12:52309953 ACVRL1 G>C	12	52309953	52309953	G	C	ACVRL1	c.1182G>C	NM_000020.2	NP_000011.2:p.(Lys394Asn)	NC_000012.11:g.52309953G>C	VUS	1 lab	2da32b23a3
15:90174939 KIF7 GGC>G	15	90174939	90174941	GGC	G	KIF7	c.2896_2897del	NM_198525.3	NP_940927.2:p.(Ala966ProfsTer81)	NC_000015.9:g.90174940_90174941del	VUS	1 lab	d19a4c9c98
16:86544982 FOXF1 C>G	16	86544982	86544982	C	G	FOXF1	c.807C>G	NM_001451.3	NP_001442.2:p.(Ala269=)	NC_000016.9:g.86544982C>G	(Likely) benign	1 lab	d19adb4a26
7:27135273 HOXA1 C>T	7	27135273	27135273	C	T	HOXA1	c.259G>A	NM_005522.5	NP_005513.2:p.(Gly87Arg)	NC_000007.13:g.27135273C>T	VUS	1 lab	d19b260e21
16:30937185 FBXL19 G>A	16	30937185	30937185	G	A	FBXL19	c.110G>A	NM_001382779.1	NP_001369708.1:p.(Arg37Gln)	NC_000016.9:g.30937185G>A	VUS	1 lab	d19c3249a8
7:70254988 AUTS2 C>G	7	70254988	70254988	C	G	AUTS2	c.2786C>G	NM_015570.4	NP_056385.1:p.(Ala929Gly)	NC_000007.13:g.70254988C>G	(Likely) benign	1 lab	d19e8eca73
17:41247855 BRCA1 G>A	17	41247855	41247855	G	A	BRCA1	c.670+8C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247855G>A	(Likely) benign	1 lab	2bb45c6e57
4:77283402 CCDC158 C>T	4	77283402	77283402	C	T	CCDC158	c.1897G>A	NM_001394954.1	NP_001381883.1:p.(Glu633Lys)	NC_000004.11:g.77283402C>T	VUS	1 lab	d1a4a546d0
13:25466917 CPAP T>C	13	25466917	25466917	T	C	CPAP	c.3080A>G	NM_018451.5	NP_060921.3:p.(Gln1027Arg)	NC_000013.10:g.25466917T>C	VUS	1 lab	d1a620ae14
9:35805583 NPR2 C>A	9	35805583	35805583	C	A	NPR2	c.1963C>A	NM_003995.4	NP_003986.2:p.(Arg655Ser)	NC_000009.11:g.35805583C>A	(Likely) pathogenic	1 lab	d1a6978db0
16:2162930 PKD1 A>G	16	2162930	2162930	A	G	PKD1	c.3020T>C	NM_001009944.3	NP_001009944.3:p.(Val1007Ala)	NC_000016.9:g.2162930A>G	(Likely) pathogenic	1 lab	d1a6ad5030
12:13764662 GRIN2B TG>T	12	13764662	13764663	TG	T	GRIN2B	c.1776del	NM_000834.5	NP_000825.2:p.(Arg593GlufsTer58)	NC_000012.11:g.13764663del	VUS	1 lab	d1a73e1132
19:31768585 TSHZ3 C>T	19	31768585	31768585	C	T	TSHZ3	c.2114G>A	NM_020856.4	NP_065907.2:p.(Ser705Asn)	NC_000019.9:g.31768585C>T	VUS	1 lab	d1a8abb9f8
15:62944246 TLN2 C>T	15	62944246	62944246	C	T	TLN2	c.277C>T	NM_015059.3	NP_055874.2:p.(Arg93Trp)	NC_000015.9:g.62944246C>T	VUS	1 lab	d1a9f7414f
12:31255933 DDX11 G>T	12	31255933	31255933	G	T	DDX11	c.2436G>T	NM_030653.4	NP_085911.2:p.(Met812Ile)	NC_000012.11:g.31255933G>T	VUS	1 lab	d1ab2ff568
20:43257800 ADA T>G	20	43257800	43257800	T	G	ADA	c.106A>C	NM_000022.4	NP_000013.2:p.(Ile36Leu)	NC_000020.10:g.43257800T>G	(Likely) benign	1 lab	d1ac49b798
7:30058731 FKBP14 G>C	7	30058731	30058731	G	C	FKBP14	c.358C>G	NM_017946.4	NP_060416.1:p.(Pro120Ala)	NC_000007.13:g.30058731G>C	VUS	1 lab	d1ae8769bc
6:82459415 TENT5A A>C	6	82459415	82459415	A	C	TENT5A	c.1326T>G	NM_017633.3	NP_060103.2:p.(Asn442Lys)	NC_000006.11:g.82459415A>C	VUS	1 lab	d1aef51bb4
20:43030017 HNF4A G>A	20	43030017	43030017	G	A	HNF4A	c.5G>A	NM_000457.5	NP_000448.3:p.(Arg2Gln)	NC_000020.10:g.43030017G>A	(Likely) benign	1 lab	d1af702df3
17:58678032 PPM1D C>A	17	58678032	58678032	C	A	PPM1D	c.257C>A	NM_003620.4	NP_003611.1:p.(Pro86Gln)	NC_000017.10:g.58678032C>A	VUS	1 lab	d1b0f92114
2:15470732 NBAS C>T	2	15470732	15470732	C	T	NBAS	c.4337G>A	NM_015909.4	NP_056993.2:p.(Arg1446Gln)	NC_000002.11:g.15470732C>T	VUS	1 lab	d1b1dec14f
8:106813760 ZFPM2 G>A	8	106813760	106813760	G	A	ZFPM2	c.1450G>A	NM_012082.4	NP_036214.2:p.(Val484Ile)	NC_000008.10:g.106813760G>A	(Likely) benign	1 lab	d1b21dd4bc
17:10322055 MYH8 C>T	17	10322055	10322055	C	T	MYH8	c.418G>A	NM_002472.3	NP_002463.2:p.(Glu140Lys)	NC_000017.10:g.10322055C>T	(Likely) benign	1 lab	d1b5c86c4b
5:140056997 HARS1 C>G	5	140056997	140056997	C	G	HARS1	c.738G>C	NM_002109.6	NP_002100.2:p.(Trp246Cys)	NC_000005.9:g.140056997C>G	VUS	1 lab	d1b87ec733
11:95528677 CEP57 TAG>T	11	95528677	95528679	TAG	T	CEP57	c.46-3718_46-3717del	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95528678_95528679del	(Likely) benign	1 lab	d1b8a9b8d9
4:3144512 HTT C>G	4	3144512	3144512	C	G	HTT	c.2965C>G	NM_001388492.1	NP_001375421.1:p.(Leu989Val)	NC_000004.11:g.3144512C>G	VUS	1 lab	d1bd41db4b
15:63982745 HERC1 C>A	15	63982745	63982745	C	A	HERC1	c.5932G>T	NM_003922.4	NP_003913.3:p.(Ala1978Ser)	NC_000015.9:g.63982745C>A	(Likely) benign	1 lab	d1beacbc19
17:61995108 GH1 C>T	17	61995108	61995108	C	T	GH1	c.456+12G>A	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995108C>T	(Likely) benign	1 lab	d1bf95fbf3
14:100706075 YY1 C>T	14	100706075	100706075	C	T	YY1	c.494C>T	NM_003403.5	NP_003394.1:p.(Ser165Leu)	NC_000014.8:g.100706075C>T	(Likely) benign	1 lab	d1bfb3c424
1:15788051 CELA2A C>T	1	15788051	15788051	C	T	CELA2A	c.130-5C>T	NM_033440.3	NP_254275.1:p.?	NC_000001.10:g.15788051C>T	(Likely) benign	1 lab	d1c060448b
5:152870475 GRIA1 C>A	5	152870475	152870475	C	A	GRIA1	c.27C>A	NM_000827.4	NP_000818.2:p.(Cys9Ter)	NC_000005.9:g.152870475C>A	(Likely) pathogenic	1 lab	d1c06adc59
12:102869560 IGF1 C>T	12	102869560	102869560	C	T	IGF1	c.81G>A	NM_000618.5	NP_000609.1:p.(Met27Ile)	NC_000012.11:g.102869560C>T	VUS	1 lab	d1c111a0d8
17:78078918 GAA G>A	17	78078918	78078918	G	A	GAA	c.533G>A	NM_000152.5	NP_000143.2:p.(Arg178His)	NC_000017.10:g.78078918G>A	(Likely) benign	1 lab	d1c28e0f3b
1:201182116 IGFN1 C>T	1	201182116	201182116	C	T	IGFN1	c.8095C>T	NM_001164586.2	NP_001158058.1:p.(Pro2699Ser)	NC_000001.10:g.201182116C>T	VUS	1 lab	d1c2bad227
10:123239388 FGFR2 C>T	10	123239388	123239388	C	T	FGFR2	c.2449G>A	NM_000141.5	NP_000132.3:p.(Gly817Ser)	NC_000010.10:g.123239388C>T	VUS	1 lab	d1c3c42461
1:155581090 MSTO1 C>T	1	155581090	155581090	C	T	MSTO1	c.366+8C>T	NM_018116.4	NP_060586.2:p.?	NC_000001.10:g.155581090C>T	VUS	1 lab	d1c555af3f
12:46204808 ARID2 C>T	12	46204808	46204808	C	T	ARID2	c.285-393C>T	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46204808C>T	(Likely) benign	1 lab	d1c5697811
22:29121327 CHEK2 C>T	22	29121327	29121327	C	T	CHEK2	c.348G>A	NM_007194.4	NP_009125.1:p.(Gly116=)	NC_000022.10:g.29121327C>T	(Likely) benign	1 lab	d1c5c7e29b
3:39178505 TTC21A G>A	3	39178505	39178505	G	A	TTC21A	c.3211G>A	NM_001366900.1	NP_001353829.1:p.(Glu1071Lys)	NC_000003.11:g.39178505G>A	VUS	1 lab	d1c69b383d
19:13054602 CALR AAAGAGGAGGAGGAGGC>A	19	13054602	13054619	AAAGAGGAGGAGGAGGC	A	CALR	c.1131_1146del	NM_004343.4	NP_004334.1:p.(Glu378ArgfsTer47)	NC_000019.9:g.13054604_13054619del	(Likely) pathogenic	1 lab	d1c6b4f3b7
10:76789096 KAT6B A>G	10	76789096	76789096	A	G	KAT6B	c.4514A>G	NM_012330.4	NP_036462.2:p.(Glu1505Gly)	NC_000010.10:g.76789096A>G	VUS	1 lab	d1c9d6865d
19:48801278 ODAD1 G>A	19	48801278	48801278	G	A	ODAD1	c.1481C>T	NM_001364171.2	NP_001351100.1:p.(Pro494Leu)	NC_000019.9:g.48801278G>A	(Likely) benign	1 lab	d1c9d7c266
11:108196767 ATM A>C	11	108196767	108196767	A	C	ATM	c.6808-18A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196767A>C	VUS	1 lab	d1ca41994a
22:31003393 TCN2 C>T	22	31003393	31003393	C	T	TCN2	c.64+11C>T	NM_001184726.1	NP_001171655.1:p.?	NC_000022.10:g.31003393C>T	(Likely) benign	1 lab	2da683cef6
2:149247459 MBD5 T>G	2	149247459	149247459	T	G	MBD5	c.4258T>G	NM_001378120.1	NP_001365049.1:p.(Ser1420Ala)	NC_000002.11:g.149247459T>G	VUS	1 lab	d1cddf205e
1:214795418 CENPF C>T	1	214795418	214795418	C	T	CENPF	c.866-4C>T	NM_016343.4	NP_057427.3:p.?	NC_000001.10:g.214795418C>T	(Likely) benign	1 lab	d1d0cfe763
X:32563412 DMD G>A	X	32563412	32563412	G	A	DMD	c.2032C>T	NM_004006.3	NP_003997.2:p.(Gln678Ter)	NC_000023.10:g.32563412G>A	VUS	1 lab	d1d40ca9be
3:168802781 MECOM T>G	3	168802781	168802781	T	G	MECOM	c.3636A>C	NM_004991.4	NP_004982.2:p.(Thr1212=)	NC_000003.11:g.168802781T>G	(Likely) benign	1 lab	d1d69aceab
11:103059228 DYNC2H1 A>G	11	103059228	103059228	A	G	DYNC2H1	c.7143A>G	NM_001377.3	NP_001368.2:p.(Val2381=)	NC_000011.9:g.103059228A>G	(Likely) benign	1 lab	d1d6d3f76a
14:68282559 ZFYVE26 T>A	14	68282559	68282559	T	A	ZFYVE26	c.122A>T	NM_015346.4	NP_056161.2:p.(Glu41Val)	NC_000014.8:g.68282559T>A	VUS	1 lab	d1d7a4d5a9
22:36718509 MYH9 C>A	22	36718509	36718509	C	A	MYH9	c.670G>T	NM_002473.6	NP_002464.1:p.(Ala224Ser)	NC_000022.10:g.36718509C>A	VUS	1 lab	d1d7cc5132
X:70330106 IL2RG A>C	X	70330106	70330106	A	C	IL2RG	c.494T>G	NM_000206.3	NP_000197.1:p.(Leu165Arg)	NC_000023.10:g.70330106A>C	VUS	1 lab	d1d80cf5dc
X:601724 SHOX T>C	X	601724	601724	T	C	SHOX	c.545-10T>C	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.601724T>C	VUS	1 lab	d1d8194aba
1:79387350 ADGRL4 C>T	1	79387350	79387350	C	T	ADGRL4	c.1205G>A	NM_022159.4	NP_071442.2:p.(Arg402His)	NC_000001.10:g.79387350C>T	(Likely) benign	1 lab	2da9879882
17:12666884 MYOCD A>G	17	12666884	12666884	A	G	MYOCD	c.2884A>G	NM_001146312.3	NP_001139784.1:p.(Ile962Val)	NC_000017.10:g.12666884A>G	VUS	1 lab	d1da6be208
12:80190585 PPP1R12A C>A	12	80190585	80190585	C	A	PPP1R12A	c.2438G>T	NM_002480.3	NP_002471.1:p.(Gly813Val)	NC_000012.11:g.80190585C>A	(Likely) benign	1 lab	d1dcb96560
7:44185319 GCK C>T	7	44185319	44185319	C	T	GCK	c.1030G>A	NM_000162.5	NP_000153.1:p.(Asp344Asn)	NC_000007.13:g.44185319C>T	VUS	1 lab	d1dee3ccb4
14:75513908 MLH3 A>T	14	75513908	75513908	A	T	MLH3	c.2451T>A	NM_001040108.2	NP_001035197.1:p.(Ser817Arg)	NC_000014.8:g.75513908A>T	VUS	1 lab	d1e4c9ae47
2:160289812 BAZ2B C>A	2	160289812	160289812	C	A	BAZ2B	c.1356G>T	NM_013450.4	NP_038478.2:p.(Lys452Asn)	NC_000002.11:g.160289812C>A	VUS	1 lab	d1e4ebd85b
12:113542108 RASAL1 G>A	12	113542108	113542108	G	A	RASAL1	c.1831-5C>T	NM_001301202.2	NP_001288131.1:p.?	NC_000012.11:g.113542108G>A	VUS	1 lab	d1e55ed1cd
18:58038779 MC4R G>C	18	58038779	58038779	G	C	MC4R	c.804C>G	NM_005912.3	NP_005903.2:p.(Tyr268Ter)	NC_000018.9:g.58038779G>C	VUS	1 lab	d1e580ed6e
2:42995041 HAAO C>T	2	42995041	42995041	C	T	HAAO	c.658G>A	NM_012205.3	NP_036337.2:p.(Glu220Lys)	NC_000002.11:g.42995041C>T	VUS	1 lab	d1e5beab3a
17:17699744 RAI1 G>A	17	17699744	17699744	G	A	RAI1	c.3482G>A	NM_030665.4	NP_109590.3:p.(Arg1161Gln)	NC_000017.10:g.17699744G>A	(Likely) benign	1 lab	d1e68f0348
3:126137473 CFAP100 G>A	3	126137473	126137473	G	A	CFAP100	c.506G>A	NM_182628.3	NP_872434.2:p.(Arg169Gln)	NC_000003.11:g.126137473G>A	(Likely) benign	1 lab	d1e6e08fe7
7:87533707 DBF4 A>G	7	87533707	87533707	A	G	DBF4	c.1025A>G	NM_006716.4	NP_006707.1:p.(Glu342Gly)	NC_000007.13:g.87533707A>G	VUS	1 lab	d1e7e49b10
11:3113709 OSBPL5 C>T	11	3113709	3113709	C	T	OSBPL5	c.2212G>A	NM_020896.4	NP_065947.1:p.(Val738Met)	NC_000011.9:g.3113709C>T	VUS	1 lab	d1e9d51694
10:79781326 POLR3A T>C	10	79781326	79781326	T	C	POLR3A	c.1163A>G	NM_007055.4	NP_008986.2:p.(Lys388Arg)	NC_000010.10:g.79781326T>C	VUS	1 lab	d1ea8b1bf0
19:853370 ELANE C>T	19	853370	853370	C	T	ELANE	c.333C>T	NM_001972.2	NP_001963.1:p.(Pro111=)	NC_000019.9:g.853370C>T	(Likely) benign	1 lab	2da9d8516f
18:691060 ENOSF1 C>A	18	691060	691060	C	A	ENOSF1	c.535+8G>T	NM_017512.7	NP_059982.2:p.?	NC_000018.9:g.691060C>A	(Likely) benign	1 lab	d1eb7112ef
6:111887674 TRAF3IP2 G>GC	6	111887674	111887676	G	GC	TRAF3IP2	c.1448dup	NM_147686.4	NP_679211.2:p.(His485ThrfsTer3)	NC_000006.11:g.111887676dup	VUS	1 lab	d1eb9af17a
5:127640782 FBN2 A>T	5	127640782	127640782	A	T	FBN2	c.5675-8T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640782A>T	(Likely) benign	1 lab	d1ee534c06
15:89392821 ACAN G>A	15	89392821	89392821	G	A	ACAN	c.1885G>A	NM_001369268.1	NP_001356197.1:p.(Asp629Asn)	NC_000015.9:g.89392821G>A	VUS	1 lab	d1f2ee9212
2:37247832 HEATR5B G>A	2	37247832	37247832	G	A	HEATR5B	c.4001C>T	NM_019024.3	NP_061897.1:p.(Pro1334Leu)	NC_000002.11:g.37247832G>A	VUS	1 lab	d1f4819697
16:30749073 SRCAP G>T	16	30749073	30749073	G	T	SRCAP	c.7712G>T	NM_006662.3	NP_006653.2:p.(Ser2571Ile)	NC_000016.9:g.30749073G>T	(Likely) benign	1 lab	d1f50237d7
11:640126 DRD4 GACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA>G	11	640126	640181	GACTGTGCGCCCCCCGCGCCCGGCCTCCCCCCGGACCCCTGCGGCTCCA	G	DRD4	c.885_932del	NM_000797.4	NP_000788.2:p.(Ala298_Pro313del)	NC_000011.9:g.640134_640181del	VUS	1 lab	d1f64775ae
21:47860026 PCNT G>A	21	47860026	47860026	G	A	PCNT	c.9304G>A	NM_006031.6	NP_006022.3:p.(Glu3102Lys)	NC_000021.8:g.47860026G>A	(Likely) benign	1 lab	d1f972c37a
2:189923594 COL5A2 A>G	2	189923594	189923594	A	G	COL5A2	c.2111T>C	NM_000393.5	NP_000384.2:p.(Val704Ala)	NC_000002.11:g.189923594A>G	(Likely) benign	1 lab	d1f9dd5372
19:8188683 FBN3 G>C	19	8188683	8188683	G	C	FBN3	c.2941C>G	NM_032447.5	NP_115823.3:p.(Arg981Gly)	NC_000019.9:g.8188683G>C	VUS	1 lab	d1fa0f1bda
7:31016145 GHRHR C>T	7	31016145	31016145	C	T	GHRHR	c.1076C>T	NM_000823.4	NP_000814.2:p.(Pro359Leu)	NC_000007.13:g.31016145C>T	VUS	1 lab	d1fb3b152f
17:33343573 RFFL G>A	17	33343573	33343573	G	A	RFFL	c.702C>T	NM_001017368.2	NP_001017368.1:p.(Val234=)	NC_000017.10:g.33343573G>A	(Likely) benign	1 lab	d1fbf1e134
17:17697093 RAI1 CCAGCAGCAGCAGCAGCAGCAGCAGCAG>C	17	17697093	17697134	CCAGCAGCAGCAGCAGCAGCAGCAGCAG	C	RAI1	c.846_872del	NM_030665.4	NP_109590.3:p.(Gln283_Gln291del)	NC_000017.10:g.17697108_17697134del	VUS	1 lab	d1fcd8ac28
1:211276876 KCNH1 T>G	1	211276876	211276876	T	G	KCNH1	c.272A>C	NM_172362.3	NP_758872.1:p.(Glu91Ala)	NC_000001.10:g.211276876T>G	(Likely) benign	1 lab	d1fdb7411c
19:48305803 TPRX1 G>A	19	48305803	48305803	G	A	TPRX1	c.630C>T	NM_001397346.1	NP_001384275.1:p.(Gly210=)	NC_000019.9:g.48305803G>A	(Likely) benign	1 lab	d1fdcfc2cf
3:48916811 SLC25A20 G>C	3	48916811	48916811	G	C	SLC25A20	c.397C>G	NM_000387.6	NP_000378.1:p.(Arg133Gly)	NC_000003.11:g.48916811G>C	VUS	1 lab	d1fe33c5fc
9:140128737 SLC34A3 G>A	9	140128737	140128737	G	A	SLC34A3	c.1093+9G>A	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140128737G>A	(Likely) benign	1 lab	d1fe6c4d74
5:112174941 APC A>C	5	112174941	112174941	A	C	APC	c.3650A>C	NM_000038.6	NP_000029.2:p.(Asn1217Thr)	NC_000005.9:g.112174941A>C	(Likely) benign	1 lab	d1fe7b5bfe
5:52361665 ITGA2 T>C	5	52361665	52361665	T	C	ITGA2	c.1807-6T>C	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52361665T>C	(Likely) benign	1 lab	d1ff9daf4b
13:28498733 PDX1 G>T	13	28498733	28498733	G	T	PDX1	c.747G>T	NM_000209.4	NP_000200.1:p.(Pro249=)	NC_000013.10:g.28498733G>T	(Likely) benign	1 lab	d1ffa2dc84
4:996202 IDUA A>C	4	996202	996202	A	C	IDUA	c.1118A>C	NM_000203.5	NP_000194.2:p.(Asn373Thr)	NC_000004.11:g.996202A>C	VUS	1 lab	d1ffdb2d46
19:14038843 CC2D1A A>C	19	14038843	14038843	A	C	CC2D1A	c.2454A>C	NM_017721.5	NP_060191.3:p.(Thr818=)	NC_000019.9:g.14038843A>C	(Likely) benign	1 lab	d200d33688
12:88474003 CEP290 C>A	12	88474003	88474003	C	A	CEP290	c.5182G>T	NM_025114.4	NP_079390.3:p.(Glu1728Ter)	NC_000012.11:g.88474003C>A	(Likely) pathogenic	1 lab	d2018fca38
15:64015402 HERC1 G>C	15	64015402	64015402	G	C	HERC1	c.3721C>G	NM_003922.4	NP_003913.3:p.(Gln1241Glu)	NC_000015.9:g.64015402G>C	VUS	1 lab	d2025e65e4
3:48921567 SLC25A20 A>C	3	48921567	48921567	A	C	SLC25A20	c.199-10T>G	NM_000387.6	NP_000378.1:p.?	NC_000003.11:g.48921567A>C	(Likely) pathogenic	1 lab	d2048315f1
11:68171046 LRP5 G>T	11	68171046	68171046	G	T	LRP5	c.1680G>T	NM_002335.4	NP_002326.2:p.(Trp560Cys)	NC_000011.9:g.68171046G>T	VUS	1 lab	d2048c4b99
11:108115710 ATM A>G	11	108115710	108115710	A	G	ATM	c.858A>G	NM_000051.4	NP_000042.3:p.(Gln286=)	NC_000011.9:g.108115710A>G	(Likely) benign	1 lab	d204cad2a8
8:8197151 PRAG1 C>T	8	8197151	8197151	C	T	PRAG1	c.2163G>A	NM_001080826.3	NP_001074295.2:p.(Arg721=)	NC_000008.10:g.8197151C>T	(Likely) benign	1 lab	d205aa71f6
5:11023031 CTNND2 G>A	5	11023031	11023031	G	A	CTNND2	c.2849C>T	NM_001332.4	NP_001323.1:p.(Thr950Ile)	NC_000005.9:g.11023031G>A	VUS	1 lab	d20fd99e56
5:149777942 TCOF1 AAAG>A	5	149777942	149777953	AAAG	A	TCOF1	c.4380_4382del	NM_001371623.1	NP_001358552.1:p.(Lys1461del)	NC_000005.9:g.149777951_149777953del	(Likely) benign	1 lab	d21170c995
X:140993827 MAGEC1 A>ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTC	X	140993827	140993852	A	ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTC	MAGEC1	c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA	NM_005462.5	NP_005453.2:p.(Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArg)	NC_000023.10:g.140993851_140993852insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAA	VUS	1 lab	d2062dcfe4
14:88407864 GALC G>T	14	88407864	88407864	G	T	GALC	c.1709C>A	NM_000153.4	NP_000144.2:p.(Thr570Asn)	NC_000014.8:g.88407864G>T	VUS	1 lab	d20695059d
6:51887619 PKHD1 C>A	6	51887619	51887619	C	A	PKHD1	c.5360G>T	NM_138694.4	NP_619639.3:p.(Cys1787Phe)	NC_000006.11:g.51887619C>A	(Likely) pathogenic	1 lab	d206dd4674
8:11687933 FDFT1 G>A	8	11687933	11687933	G	A	FDFT1	c.879+4G>A	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11687933G>A	(Likely) benign	1 lab	d2073939b0
6:170592454 DLL1 G>A	6	170592454	170592454	G	A	DLL1	c.1913C>T	NM_005618.4	NP_005609.3:p.(Ala638Val)	NC_000006.11:g.170592454G>A	(Likely) benign	1 lab	d208136cca
16:624051 PIGQ CCTCTT>C	16	624051	624062	CCTCTT	C	PIGQ	c.-9-8_-9-4del	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.624058_624062del	VUS	1 lab	d208414391
8:61734362 CHD7 A>G	8	61734362	61734362	A	G	CHD7	c.2711A>G	NM_017780.4	NP_060250.2:p.(Tyr904Cys)	NC_000008.10:g.61734362A>G	VUS	1 lab	d2098b902d
15:65394625 UBAP1L G>T	15	65394625	65394625	G	T	UBAP1L	c.518C>A	NM_001163692.2	NP_001157164.1:p.(Ala173Asp)	NC_000015.9:g.65394625G>T	(Likely) benign	1 lab	d20a4a3d06
8:145741983 RECQL4 G>A	8	145741983	145741983	G	A	RECQL4	c.520C>T	NM_004260.4	NP_004251.4:p.(His174Tyr)	NC_000008.10:g.145741983G>A	(Likely) benign	1 lab	d20bf78533
15:32744694 GOLGA8O A>G	15	32744694	32744694	A	G	GOLGA8O	c.307T>C	NM_001277308.1	NP_001264237.1:p.(Leu103=)	NC_000015.9:g.32744694A>G	(Likely) benign	1 lab	d20ce66364
17:8045617 PER1 C>T	17	8045617	8045617	C	T	PER1	c.3419G>A	NM_002616.3	NP_002607.2:p.(Arg1140His)	NC_000017.10:g.8045617C>T	(Likely) benign	1 lab	d20d879fc4
X:111698522 RTL4 C>A	X	111698522	111698522	C	A	RTL4	c.566C>A	NM_001395362.2	NP_001382291.1:p.(Ala189Asp)	NC_000023.10:g.111698522C>A	(Likely) benign	1 lab	d20f6caa8a
19:16977179 SIN3B C>T	19	16977179	16977179	C	T	SIN3B	c.1623-5C>T	NM_001297595.2	NP_001284524.1:p.?	NC_000019.9:g.16977179C>T	(Likely) benign	1 lab	d21215ffcb
22:19363237 HIRA C>T	22	19363237	19363237	C	T	HIRA	c.1692G>A	NM_003325.4	NP_003316.3:p.(Ala564=)	NC_000022.10:g.19363237C>T	(Likely) benign	1 lab	2bb6c792ab
10:129906707 MKI67 G>A	10	129906707	129906707	G	A	MKI67	c.3397C>T	NM_002417.5	NP_002408.3:p.(Pro1133Ser)	NC_000010.10:g.129906707G>A	VUS	1 lab	d213547b56
1:156640656 NES CAG>C	1	156640656	156640658	CAG	C	NES	c.3322_3323del	NM_006617.2	NP_006608.1:p.(Leu1108GlyfsTer33)	NC_000001.10:g.156640657_156640658del	(Likely) benign	1 lab	d2147238e9
2:234669255 UGT1A1 C>T	2	234669255	234669255	C	T	UGT1A1	c.322C>T	NM_000463.3	NP_000454.1:p.(Arg108Cys)	NC_000002.11:g.234669255C>T	VUS	1 lab	d21548e90c
9:135977479 RALGDS G>C	9	135977479	135977479	G	C	RALGDS	c.2057C>G	NM_006266.4	NP_006257.1:p.(Ser686Cys)	NC_000009.11:g.135977479G>C	(Likely) benign	1 lab	d2181883f2
19:10079133 COL5A3 C>T	19	10079133	10079133	C	T	COL5A3	c.4242G>A	NM_015719.4	NP_056534.2:p.(Pro1414=)	NC_000019.9:g.10079133C>T	VUS	1 lab	d21825b2b8
22:45996316 FBLN1 A>C	22	45996316	45996316	A	C	FBLN1	c.2102A>C	NM_006486.3	NP_006477.3:p.(Tyr701Ser)	NC_000022.10:g.45996316A>C	(Likely) benign	1 lab	d218bc6875
2:191745920 GLS G>A	2	191745920	191745920	G	A	GLS	c.110G>A	NM_014905.5	NP_055720.3:p.(Arg37His)	NC_000002.11:g.191745920G>A	VUS	1 lab	d219474464
1:27686851 MAP3K6 TGA>T	1	27686851	27686857	TGA	T	MAP3K6	c.2061_2062del	NM_004672.5	NP_004663.3:p.(Gln688AlafsTer4)	NC_000001.10:g.27686856_27686857del	VUS	1 lab	d21b4b5626
X:48839680 GRIPAP1 C>T	X	48839680	48839680	C	T	GRIPAP1	c.1445G>A	NM_020137.5	NP_064522.4:p.(Arg482His)	NC_000023.10:g.48839680C>T	VUS	1 lab	d21bb4e011
3:17084377 PLCL2 C>T	3	17084377	17084377	C	T	PLCL2	c.3030C>T	NM_001144382.2	NP_001137854.1:p.(Ser1010=)	NC_000003.11:g.17084377C>T	VUS	1 lab	d21d04885c
17:29585375 NF1 G>A	17	29585375	29585375	G	A	NF1	c.4187G>A	NM_001042492.3	NP_001035957.1:p.(Arg1396His)	NC_000017.10:g.29585375G>A	VUS	1 lab	d21f6e0168
16:15733076 MARF1 G>C	16	15733076	15733076	G	C	MARF1	c.15C>G	NM_014647.4	NP_055462.2:p.(Asn5Lys)	NC_000016.9:g.15733076G>C	(Likely) benign	1 lab	d22090b60f
13:20610946 ZMYM2 G>A	13	20610946	20610946	G	A	ZMYM2	c.2189G>A	NM_197968.4	NP_932072.1:p.(Cys730Tyr)	NC_000013.10:g.20610946G>A	VUS	1 lab	d220b113dc
20:31024170 ASXL1 C>T	20	31024170	31024170	C	T	ASXL1	c.3655C>T	NM_015338.6	NP_056153.2:p.(Pro1219Ser)	NC_000020.10:g.31024170C>T	VUS	1 lab	d221ce3f5c
17:48685333 CACNA1G G>A	17	48685333	48685333	G	A	CACNA1G	c.4658G>A	NM_018896.5	NP_061496.2:p.(Arg1553Gln)	NC_000017.10:g.48685333G>A	(Likely) benign	1 lab	d222b00ec5
2:15674726 NBAS G>GA	2	15674726	15674729	G	GA	NBAS	c.686dup	NM_015909.4	NP_056993.2:p.(Ser230GlnfsTer4)	NC_000002.11:g.15674729dup	(Likely) pathogenic	1 lab	d223a5fb6f
20:44574444 PCIF1 G>A	20	44574444	44574444	G	A	PCIF1	c.1263G>A	NM_022104.4	NP_071387.1:p.(Met421Ile)	NC_000020.10:g.44574444G>A	VUS	1 lab	d223e7e464
11:95519380 FAM76B C>T	11	95519380	95519380	C	T	FAM76B	c.266G>A	NM_144664.5	NP_653265.3:p.(Arg89His)	NC_000011.9:g.95519380C>T	(Likely) benign	1 lab	d22468245d
4:1807288 FGFR3 G>A	4	1807288	1807288	G	A	FGFR3	c.1537G>A	NM_000142.5	NP_000133.1:p.(Asp513Asn)	NC_000004.11:g.1807288G>A	(Likely) benign	1 lab	d224aa04b0
6:157517347 ARID1B G>A	6	157517347	157517347	G	A	ARID1B	c.4280G>A	NM_001374828.1	NP_001361757.1:p.(Ser1427Asn)	NC_000006.11:g.157517347G>A	(Likely) benign	1 lab	d22539175e
6:41709537 PGC C>A	6	41709537	41709537	C	A	PGC	c.647+491G>T	NM_002630.4	NP_002621.1:p.?	NC_000006.11:g.41709537C>A	(Likely) benign	1 lab	d2253dc8c6
5:112162836 APC A>C	5	112162836	112162836	A	C	APC	c.1440A>C	NM_000038.6	NP_000029.2:p.(Gln480His)	NC_000005.9:g.112162836A>C	(Likely) benign	1 lab	d22a98b526
6:117201764 RFX6 T>C	6	117201764	117201764	T	C	RFX6	c.438T>C	NM_173560.4	NP_775831.2:p.(Tyr146=)	NC_000006.11:g.117201764T>C	(Likely) benign	1 lab	d22b1920c5
2:9017231 MBOAT2 A>G	2	9017231	9017231	A	G	MBOAT2	c.619T>C	NM_138799.4	NP_620154.2:p.(Tyr207His)	NC_000002.11:g.9017231A>G	(Likely) benign	1 lab	d22b5cf4f2
11:111965528 SDHD G>A	11	111965528	111965528	G	A	SDHD	c.315-1G>A	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111965528G>A	(Likely) pathogenic	1 lab	d22c4554ba
2:179485026 TTN C>T	2	179485026	179485026	C	T	TTN	c.46222G>A	NM_001267550.2	NP_001254479.2:p.(Ala15408Thr)	NC_000002.11:g.179485026C>T	VUS	1 lab	d22c5d2767
X:84526350 ZNF711 A>G	X	84526350	84526350	A	G	ZNF711	c.1940A>G	NM_001330574.2	NP_001317503.1:p.(Asn647Ser)	NC_000023.10:g.84526350A>G	(Likely) benign	1 lab	d22fdef2bd
9:730198 KANK1 C>T	9	730198	730198	C	T	KANK1	c.2846C>T	NM_015158.5	NP_055973.2:p.(Thr949Met)	NC_000009.11:g.730198C>T	(Likely) benign	1 lab	d22ffe7ced
4:79432620 FRAS1 T>G	4	79432620	79432620	T	G	FRAS1	c.9973T>G	NM_025074.7	NP_079350.5:p.(Leu3325Val)	NC_000004.11:g.79432620T>G	(Likely) benign	1 lab	d230d4e75b
5:11099069 CTNND2 A>T	5	11099069	11099069	A	T	CTNND2	c.2464-209T>A	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11099069A>T	(Likely) benign	1 lab	d2319b3093
3:41268844 CTNNB1 G>T	3	41268844	41268844	G	T	CTNNB1	c.1081+1G>T	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41268844G>T	(Likely) pathogenic	1 lab	d231e4910b
7:45960320 IGFBP3 T>C	7	45960320	45960320	T	C	IGFBP3	c.403+17A>G	NM_000598.5	NP_000589.2:p.?	NC_000007.13:g.45960320T>C	VUS	1 lab	d233f0823f
2:109368063 RANBP2 C>T	2	109368063	109368063	C	T	RANBP2	c.1535C>T	NM_006267.5	NP_006258.3:p.(Pro512Leu)	NC_000002.11:g.109368063C>T	VUS	1 lab	d236746bac
6:31323094 HLA-B C>T	6	31323094	31323094	C	T	HLA-B	c.895G>A	NM_005514.8	NP_005505.2:p.(Glu299Lys)	NC_000006.11:g.31323094C>T	VUS	1 lab	d23682d35c
4:1806111 FGFR3 T>A	4	1806111	1806111	T	A	FGFR3	c.1130T>A	NM_000142.5	NP_000133.1:p.(Leu377His)	NC_000004.11:g.1806111T>A	VUS	1 lab	d23737cc9c
2:179621183 TTN C>T	2	179621183	179621183	C	T	TTN	c.11020G>A	NM_001267550.2	NP_001254479.2:p.(Gly3674Ser)	NC_000002.11:g.179621183C>T	VUS	1 lab	d237753f48
21:47836457 PCNT G>A	21	47836457	47836457	G	A	PCNT	c.6625G>A	NM_006031.6	NP_006022.3:p.(Ala2209Thr)	NC_000021.8:g.47836457G>A	(Likely) benign	1 lab	d239722a96
12:72024662 ZFC3H1 C>G	12	72024662	72024662	C	G	ZFC3H1	c.3543G>C	NM_144982.5	NP_659419.3:p.(Pro1181=)	NC_000012.11:g.72024662C>G	(Likely) benign	1 lab	d239ea8f10
19:13323000 CACNA1A C>T	19	13323000	13323000	C	T	CACNA1A	c.6220G>A	NM_001127222.2	NP_001120694.1:p.(Gly2074Ser)	NC_000019.9:g.13323000C>T	(Likely) benign	1 lab	d23b175458
X:152813908 ATP2B3 C>T	X	152813908	152813908	C	T	ATP2B3	c.1124-190C>T	NM_001001344.3	NP_001001344.1:p.?	NC_000023.10:g.152813908C>T	(Likely) benign	1 lab	d23dac1258
11:65872547 PACS1 A>G	11	65872547	65872547	A	G	PACS1	c.356+34234A>G	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65872547A>G	(Likely) benign	1 lab	d23ee87eda
14:39597523 GEMIN2 T>C	14	39597523	39597523	T	C	GEMIN2	c.571T>C	NM_003616.3	NP_003607.2:p.(Phe191Leu)	NC_000014.8:g.39597523T>C	VUS	1 lab	d23f480820
8:21981255 HR A>G	8	21981255	21981255	A	G	HR	c.1822T>C	NM_005144.5	NP_005135.2:p.(Phe608Leu)	NC_000008.10:g.21981255A>G	VUS	1 lab	d23f7bd194
16:30977470 SETD1A C>T	16	30977470	30977470	C	T	SETD1A	c.2268C>T	NM_014712.3	NP_055527.1:p.(Ala756=)	NC_000016.9:g.30977470C>T	(Likely) benign	1 lab	d23fd15acd
19:36214675 KMT2B A>C	19	36214675	36214675	A	C	KMT2B	c.3101A>C	NM_014727.3	NP_055542.1:p.(Glu1034Ala)	NC_000019.9:g.36214675A>C	(Likely) benign	1 lab	d23ff5bf3e
4:55594070 KIT C>T	4	55594070	55594070	C	T	KIT	c.1856C>T	NM_000222.3	NP_000213.1:p.(Thr619Ile)	NC_000004.11:g.55594070C>T	VUS	1 lab	d240d4570f
19:17885056 FCHO1 G>T	19	17885056	17885056	G	T	FCHO1	c.799G>T	NM_015122.3	NP_055937.1:p.(Asp267Tyr)	NC_000019.9:g.17885056G>T	VUS	1 lab	d241a02870
21:37706013 MORC3 A>G	21	37706013	37706013	A	G	MORC3	c.109A>G	NM_015358.3	NP_056173.1:p.(Ile37Val)	NC_000021.8:g.37706013A>G	VUS	1 lab	d24511f539
10:21098733 NEBL A>G	10	21098733	21098733	A	G	NEBL	c.2611+2T>C	NM_006393.3	NP_006384.1:p.?	NC_000010.10:g.21098733A>G	VUS	1 lab	d24532b58b
15:62320556 VPS13C C>T	15	62320556	62320556	C	T	VPS13C	c.448+1G>A	NM_020821.3	NP_065872.1:p.?	NC_000015.9:g.62320556C>T	VUS	1 lab	d245ff8794
17:74276935 QRICH2 G>A	17	74276935	74276935	G	A	QRICH2	c.4363C>T	NM_001388453.1	NP_001375382.1:p.(Arg1455Trp)	NC_000017.10:g.74276935G>A	(Likely) benign	1 lab	d247c02290
7:100417377 EPHB4 C>T	7	100417377	100417377	C	T	EPHB4	c.1099G>A	NM_004444.5	NP_004435.3:p.(Gly367Arg)	NC_000007.13:g.100417377C>T	(Likely) benign	1 lab	d247e66a5e
6:132181551 ENPP1 A>T	6	132181551	132181551	A	T	ENPP1	c.820A>T	NM_006208.3	NP_006199.2:p.(Ile274Leu)	NC_000006.11:g.132181551A>T	VUS	1 lab	d2489fb4ee
11:17464386 ABCC8 C>T	11	17464386	17464386	C	T	ABCC8	c.1511G>A	NM_000352.6	NP_000343.2:p.(Arg504His)	NC_000011.9:g.17464386C>T	VUS	1 lab	d2499a3105
12:49435056 KMT2D T>C	12	49435056	49435056	T	C	KMT2D	c.6497A>G	NM_003482.4	NP_003473.3:p.(Gln2166Arg)	NC_000012.11:g.49435056T>C	(Likely) benign	1 lab	d249fad439
4:6302749 WFS1 G>A	4	6302749	6302749	G	A	WFS1	c.1227G>A	NM_006005.3	NP_005996.2:p.(Leu409=)	NC_000004.11:g.6302749G>A	(Likely) benign	1 lab	d24aaffb1b
5:140772582 PCDHGB4 T>A	5	140772582	140772582	T	A	PCDHGB4	c.2397+2734T>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140772582T>A	VUS	1 lab	d24c9d56d2
12:58186853 TSFM A>G	12	58186853	58186853	A	G	TSFM	c.568A>G	NM_005726.6	NP_005717.3:p.(Ile190Val)	NC_000012.11:g.58186853A>G	VUS	1 lab	d24cf00bd5
16:72055073 DHODH G>A	16	72055073	72055073	G	A	DHODH	c.568G>A	NM_001361.5	NP_001352.2:p.(Ala190Thr)	NC_000016.9:g.72055073G>A	VUS	1 lab	d24e190f03
9:140638534 EHMT1 G>A	9	140638534	140638534	G	A	EHMT1	c.1162G>A	NM_024757.5	NP_079033.4:p.(Ala388Thr)	NC_000009.11:g.140638534G>A	(Likely) benign	1 lab	d24e1cdaa5
4:1804786 FGFR3 G>A	4	1804786	1804786	G	A	FGFR3	c.931-633G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804786G>A	VUS	1 lab	d24e6e6ce1
2:47705497 MSH2 TATCAGA>T	2	47705497	47705505	TATCAGA	T	MSH2	c.2300_2305del	NM_000251.3	NP_000242.1:p.(Ser767_Glu768del)	NC_000002.11:g.47705500_47705505del	VUS	1 lab	d24f09d663
8:102571013 GRHL2 C>T	8	102571013	102571013	C	T	GRHL2	c.651C>T	NM_024915.4	NP_079191.2:p.(Ser217=)	NC_000008.10:g.102571013C>T	(Likely) benign	1 lab	d24fbf1c83
3:49140809 QARS1 C>T	3	49140809	49140809	C	T	QARS1	c.485G>A	NM_005051.3	NP_005042.1:p.(Gly162Asp)	NC_000003.11:g.49140809C>T	VUS	1 lab	d24fd6407f
15:99458927 IGF1R G>A	15	99458927	99458927	G	A	IGF1R	c.1829-266G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99458927G>A	(Likely) benign	1 lab	d255402597
19:36558235 WDR62 G>T	19	36558235	36558235	G	T	WDR62	c.589G>T	NM_001083961.2	NP_001077430.1:p.(Val197Leu)	NC_000019.9:g.36558235G>T	VUS	1 lab	d2562b1ed1
1:186276547 PRG4 A>C	1	186276547	186276547	A	C	PRG4	c.1696A>C	NM_005807.6	NP_005798.3:p.(Lys566Gln)	NC_000001.10:g.186276547A>C	VUS	1 lab	d256987125
16:88787785 PIEZO1 C>G	16	88787785	88787785	C	G	PIEZO1	c.5457G>C	NM_001142864.4	NP_001136336.2:p.(Lys1819Asn)	NC_000016.9:g.88787785C>G	(Likely) benign	1 lab	d257f6a040
11:2950224 PHLDA2 TCGGCGGGTG>T	11	2950224	2950245	TCGGCGGGTG	T	PHLDA2	c.362_370del	NM_003311.4	NP_003302.1:p.(Ala121_Ala123del)	NC_000011.9:g.2950237_2950245del	VUS	1 lab	d2587930b2
15:89391179 ACAN G>A	15	89391179	89391179	G	A	ACAN	c.1642G>A	NM_001369268.1	NP_001356197.1:p.(Asp548Asn)	NC_000015.9:g.89391179G>A	VUS	1 lab	d25a0b5a8a
22:19207491 CLTCL1 T>C	22	19207491	19207491	T	C	CLTCL1	c.2822A>G	NM_007098.4	NP_009029.3:p.(Lys941Arg)	NC_000022.10:g.19207491T>C	VUS	1 lab	d25b6112d5
9:139286964 SNAPC4 CCT>C	9	139286964	139286966	CCT	C	SNAPC4	c.810+8_810+9del	NM_003086.4	NP_003077.2:p.?	NC_000009.11:g.139286965_139286966del	(Likely) benign	1 lab	d25c49e1d9
11:47372995 MYBPC3 G>A	11	47372995	47372995	G	A	MYBPC3	c.87C>T	NM_000256.3	NP_000247.2:p.(Phe29=)	NC_000011.9:g.47372995G>A	(Likely) benign	1 lab	2bb980c8ed
9:126129443 CRB2 GC>G	9	126129443	126129448	GC	G	CRB2	c.755-3del	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126129448del	(Likely) benign	1 lab	d25ca0d272
16:49669833 ZNF423 T>C	16	49669833	49669833	T	C	ZNF423	c.3254A>G	NM_001379286.1	NP_001366215.1:p.(Gln1085Arg)	NC_000016.9:g.49669833T>C	VUS	1 lab	d25e5340a4
8:61736419 CHD7 C>T	8	61736419	61736419	C	T	CHD7	c.3222C>T	NM_017780.4	NP_060250.2:p.(Ser1074=)	NC_000008.10:g.61736419C>T	(Likely) benign	1 lab	d25eb4e6ab
12:88462409 CEP290 G>A	12	88462409	88462409	G	A	CEP290	c.6025C>T	NM_025114.4	NP_079390.3:p.(Leu2009Phe)	NC_000012.11:g.88462409G>A	VUS	1 lab	d25f34855c
3:49162060 LAMB2 A>G	3	49162060	49162060	A	G	LAMB2	c.3110-15T>C	NM_002292.4	NP_002283.3:p.?	NC_000003.11:g.49162060A>G	(Likely) benign	1 lab	2db1fa2214
21:33031974 SOD1 A>G	21	33031974	33031974	A	G	SOD1	c.-109A>G	NM_000454.4	NP_000445.1:p.?	NC_000021.8:g.33031974A>G	(Likely) benign	1 lab	2db2a2e0ba
12:31613312 DENND5B T>C	12	31613312	31613312	T	C	DENND5B	c.908A>G	NM_144973.4	NP_659410.3:p.(Tyr303Cys)	NC_000012.11:g.31613312T>C	VUS	1 lab	d2657b0cb5
19:38954174 RYR1 G>A	19	38954174	38954174	G	A	RYR1	c.2682+7G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38954174G>A	(Likely) benign	1 lab	d265da019f
X:69503184 RAB41 C>T	X	69503184	69503184	C	T	RAB41	c.304C>T	NM_001363807.1	NP_001350736.1:p.(Arg102Cys)	NC_000023.10:g.69503184C>T	VUS	1 lab	d26698eba0
4:154477060 TMEM131L A>C	4	154477060	154477060	A	C	TMEM131L	c.430A>C	NM_001131007.2	NP_001124479.1:p.(Arg144=)	NC_000004.11:g.154477060A>C	VUS	1 lab	d266f7e433
9:334291 DOCK8 C>T	9	334291	334291	C	T	DOCK8	c.1192C>T	NM_203447.4	NP_982272.2:p.(Arg398Trp)	NC_000009.11:g.334291C>T	VUS	1 lab	d268082d9d
3:52412794 DNAH1 G>A	3	52412794	52412794	G	A	DNAH1	c.7375G>A	NM_015512.5	NP_056327.4:p.(Glu2459Lys)	NC_000003.11:g.52412794G>A	(Likely) benign	1 lab	d26864a79f
X:32486695 DMD G>A	X	32486695	32486695	G	A	DMD	c.3082C>T	NM_004006.3	NP_003997.2:p.(Arg1028Cys)	NC_000023.10:g.32486695G>A	VUS	1 lab	d268fd2e5c
15:28117052 OCA2 T>G	15	28117052	28117052	T	G	OCA2	c.2096A>C	NM_000275.3	NP_000266.2:p.(His699Pro)	NC_000015.9:g.28117052T>G	VUS	1 lab	d2693b03b6
16:2127688 TSC2 G>A	16	2127688	2127688	G	A	TSC2	c.2927G>A	NM_000548.5	NP_000539.2:p.(Arg976Gln)	NC_000016.9:g.2127688G>A	VUS	1 lab	d269f54376
17:11501885 DNAH9 C>G	17	11501885	11501885	C	G	DNAH9	c.70C>G	NM_001372.4	NP_001363.2:p.(Arg24Gly)	NC_000017.10:g.11501885C>G	VUS	1 lab	d26b803715
5:140908041 DIAPH1 G>A	5	140908041	140908041	G	A	DIAPH1	c.3127C>T	NM_005219.5	NP_005210.3:p.(His1043Tyr)	NC_000005.9:g.140908041G>A	VUS	1 lab	d26c271de1
6:129674483 LAMA2 C>T	6	129674483	129674483	C	T	LAMA2	c.4698C>T	NM_000426.4	NP_000417.3:p.(Arg1566=)	NC_000006.11:g.129674483C>T	VUS	1 lab	d26ccad456
3:10088394 FANCD2 C>G	3	10088394	10088394	C	G	FANCD2	c.1265C>G	NM_001018115.3	NP_001018125.1:p.(Ser422Cys)	NC_000003.11:g.10088394C>G	VUS	1 lab	d26d0da0a3
16:2521843 NTN3 CGCCCTGGGCCGCGAGGTGCTGGCTTCCAGCACGTGCGGGCGGCCGGCCACTCGG>C	16	2521843	2521900	CGCCCTGGGCCGCGAGGTGCTGGCTTCCAGCACGTGCGGGCGGCCGGCCACTCGG	C	NTN3	c.145_198del	NM_006181.3	NP_006172.1:p.(Leu49_Ala66del)	NC_000016.9:g.2521847_2521900del	VUS	1 lab	d26d4ab083
13:32903615 BRCA2 CATG>C	13	32903615	32903620	CATG	C	BRCA2	c.670_672del	NM_000059.4	NP_000050.3:p.(Asp224del)	NC_000013.10:g.32903618_32903620del	VUS	1 lab	2bbcd5fbea
6:15324216 JARID2 A>G	6	15324216	15324216	A	G	JARID2	c.46-50132A>G	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15324216A>G	(Likely) benign	1 lab	d26eff8ee5
4:5633766 EVC2 A>G	4	5633766	5633766	A	G	EVC2	c.1471-7T>C	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5633766A>G	(Likely) benign	1 lab	d26f60a8e8
1:100382007 AGL A>G	1	100382007	100382007	A	G	AGL	c.4301A>G	NM_000642.3	NP_000633.2:p.(Asn1434Ser)	NC_000001.10:g.100382007A>G	VUS	1 lab	d26f94afe9
10:22607644 COMMD3 T>G	10	22607644	22607644	T	G	COMMD3	c.411+2T>G	NM_012071.4	NP_036203.1:p.?	NC_000010.10:g.22607644T>G	VUS	1 lab	d2703bc5d4
10:79581573 DLG5 C>T	10	79581573	79581573	C	T	DLG5	c.2669G>A	NM_004747.4	NP_004738.3:p.(Arg890His)	NC_000010.10:g.79581573C>T	(Likely) benign	1 lab	d270403ee1
15:89402048 ACAN G>T	15	89402048	89402048	G	T	ACAN	c.6232G>T	NM_001369268.1	NP_001356197.1:p.(Asp2078Tyr)	NC_000015.9:g.89402048G>T	VUS	1 lab	d27108f517
7:590198 PRKAR1B C>T	7	590198	590198	C	T	PRKAR1B	c.1015G>A	NM_001164761.2	NP_001158233.1:p.(Val339Ile)	NC_000007.13:g.590198C>T	VUS	1 lab	2bc5644056
7:96635639 DLX6 C>T	7	96635639	96635639	C	T	DLX6	c.350C>T	NM_005222.4	NP_005213.3:p.(Pro117Leu)	NC_000007.13:g.96635639C>T	(Likely) benign	1 lab	d271aa51f7
6:31736973 VWA7 A>AG	6	31736973	31736974	A	AG	VWA7	c.1324_1325insC	NM_025258.3	NP_079534.2:p.(Phe442SerfsTer5)	NC_000006.11:g.31736973_31736974insG	VUS	1 lab	d271ad3c2c
11:3704550 NUP98 G>A	11	3704550	3704550	G	A	NUP98	c.4798C>T	NM_016320.5	NP_057404.2:p.(His1600Tyr)	NC_000011.9:g.3704550G>A	(Likely) benign	1 lab	d271d08445
19:54691063 MBOAT7 G>T	19	54691063	54691063	G	T	MBOAT7	c.313C>A	NM_024298.5	NP_077274.3:p.(Gln105Lys)	NC_000019.9:g.54691063G>T	VUS	1 lab	d27514e479
1:21890631 ALPL C>G	1	21890631	21890631	C	G	ALPL	c.570C>G	NM_000478.6	NP_000469.3:p.(Asn190Lys)	NC_000001.10:g.21890631C>G	(Likely) benign	1 lab	d279d69e62
5:118865581 HSD17B4 C>T	5	118865581	118865581	C	T	HSD17B4	c.1768-8C>T	NM_000414.4	NP_000405.1:p.?	NC_000005.9:g.118865581C>T	(Likely) benign	1 lab	d27a15573f
16:50128688 HEATR3 C>G	16	50128688	50128688	C	G	HEATR3	c.1583C>G	NM_182922.4	NP_891552.1:p.(Ser528Cys)	NC_000016.9:g.50128688C>G	VUS	1 lab	d27abdef9e
1:160323903 NCSTN C>G	1	160323903	160323903	C	G	NCSTN	c.1180-5C>G	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160323903C>G	(Likely) benign	1 lab	d27d40f304
19:42799320 CIC T>C	19	42799320	42799320	T	C	CIC	c.7531T>C	NM_001386298.1	NP_001373227.1:p.(Ser2511Pro)	NC_000019.9:g.42799320T>C	VUS	1 lab	d27d951fbe
4:113153284 AP1AR C>T	4	113153284	113153284	C	T	AP1AR	c.37C>T	NM_018569.6	NP_061039.3:p.(Leu13Phe)	NC_000004.11:g.113153284C>T	(Likely) benign	1 lab	d27e9082bc
9:140127124 SLC34A3 C>T	9	140127124	140127124	C	T	SLC34A3	c.273C>T	NM_080877.2	NP_543153.1:p.(Asp91=)	NC_000009.11:g.140127124C>T	(Likely) benign	1 lab	2db586918a
19:49138974 DBP G>C	19	49138974	49138974	G	C	DBP	c.413C>G	NM_001352.5	NP_001343.2:p.(Pro138Arg)	NC_000019.9:g.49138974G>C	(Likely) benign	1 lab	d280f81cba
2:63824541 MDH1 G>A	2	63824541	63824541	G	A	MDH1	c.208G>A	NM_005917.4	NP_005908.1:p.(Ala70Thr)	NC_000002.11:g.63824541G>A	VUS	1 lab	d2833b6afe
5:167920889 RARS1 T>G	5	167920889	167920889	T	G	RARS1	c.370-10T>G	NM_002887.4	NP_002878.2:p.?	NC_000005.9:g.167920889T>G	VUS	1 lab	d28597e79e
7:6560344 GRID2IP A>C	7	6560344	6560344	A	C	GRID2IP	c.1133T>G	NM_001145118.2	NP_001138590.1:p.(Leu378Arg)	NC_000007.13:g.6560344A>C	VUS	1 lab	d28af52f1d
1:39845946 MACF1 C>T	1	39845946	39845946	C	T	MACF1	c.13549C>T	NM_001394062.1	NP_001380991.1:p.(Pro4517Ser)	NC_000001.10:g.39845946C>T	VUS	1 lab	d28dddb4ba
17:67244428 ABCA5 C>A	17	67244428	67244428	C	A	ABCA5	c.4796G>T	NM_172232.4	NP_758424.1:p.(Ser1599Ile)	NC_000017.10:g.67244428C>A	VUS	1 lab	d28f323fc1
X:152770686 BGN G>T	X	152770686	152770686	G	T	BGN	c.239-10G>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770686G>T	(Likely) benign	1 lab	d28fa0cda7
6:24291306 DCDC2 C>G	6	24291306	24291306	C	G	DCDC2	c.558G>C	NM_016356.5	NP_057440.2:p.(Arg186Ser)	NC_000006.11:g.24291306C>G	VUS	1 lab	d290d8b849
14:81609594 TSHR T>G	14	81609594	81609594	T	G	TSHR	c.1192T>G	NM_000369.5	NP_000360.2:p.(Cys398Gly)	NC_000014.8:g.81609594T>G	(Likely) benign	1 lab	d2915d3078
6:87965913 ZNF292 G>C	6	87965913	87965913	G	C	ZNF292	c.2566G>C	NM_015021.3	NP_055836.1:p.(Glu856Gln)	NC_000006.11:g.87965913G>C	(Likely) benign	1 lab	d291f60d2c
1:228527805 OBSCN G>C	1	228527805	228527805	G	C	OBSCN	c.20286+3G>C	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228527805G>C	(Likely) benign	1 lab	d292ef58ee
1:55599996 USP24 T>C	1	55599996	55599996	T	C	USP24	c.3287+5A>G	NM_015306.3	NP_056121.2:p.?	NC_000001.10:g.55599996T>C	(Likely) benign	1 lab	d293538778
17:48685183 CACNA1G G>A	17	48685183	48685183	G	A	CACNA1G	c.4513-5G>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48685183G>A	(Likely) benign	1 lab	d2945755a0
2:3392074 TRAPPC12 T>G	2	3392074	3392074	T	G	TRAPPC12	c.680T>G	NM_016030.6	NP_057114.5:p.(Phe227Cys)	NC_000002.11:g.3392074T>G	VUS	1 lab	d294d653f6
2:179425219 TTN G>T	2	179425219	179425219	G	T	TTN	c.85640C>A	NM_001267550.2	NP_001254479.2:p.(Pro28547Gln)	NC_000002.11:g.179425219G>T	(Likely) benign	1 lab	d2960b2b5d
17:40481446 STAT3 C>T	17	40481446	40481446	C	T	STAT3	c.1263G>A	NM_139276.2	NP_644805.1:p.(Gly421=)	NC_000017.10:g.40481446C>T	(Likely) benign	1 lab	2db8e5a808
9:135947061 CEL T>C	9	135947061	135947061	T	C	CEL	c.2172T>C	NM_001807.6	NP_001798.3:p.(Pro724=)	NC_000009.11:g.135947061T>C	(Likely) benign	1 lab	d29723adb4
1:74671283 FPGT A>G	1	74671283	74671283	A	G	FPGT	c.1552A>G	NM_003838.5	NP_003829.4:p.(Thr518Ala)	NC_000001.10:g.74671283A>G	(Likely) benign	1 lab	d297497c60
12:109629568 ACACB G>T	12	109629568	109629568	G	T	ACACB	c.2295G>T	NM_001093.4	NP_001084.3:p.(Gln765His)	NC_000012.11:g.109629568G>T	VUS	1 lab	d2976dea7a
2:38908465 GALM C>T	2	38908465	38908465	C	T	GALM	c.389C>T	NM_138801.3	NP_620156.1:p.(Ser130Leu)	NC_000002.11:g.38908465C>T	(Likely) benign	1 lab	d297ad76f2
11:17450202 ABCC8 G>A	11	17450202	17450202	G	A	ABCC8	c.1833C>T	NM_000352.6	NP_000343.2:p.(Ser611=)	NC_000011.9:g.17450202G>A	VUS	1 lab	d298573d99
4:103556210 MANBA G>A	4	103556210	103556210	G	A	MANBA	c.2158-8C>T	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103556210G>A	(Likely) benign	1 lab	d298e4c151
7:107398713 CBLL1 G>A	7	107398713	107398713	G	A	CBLL1	c.566G>A	NM_024814.4	NP_079090.2:p.(Arg189His)	NC_000007.13:g.107398713G>A	VUS	1 lab	d299e4a991
17:6337249 AIPL1 C>T	17	6337249	6337249	C	T	AIPL1	c.266G>A	NM_014336.5	NP_055151.3:p.(Cys89Tyr)	NC_000017.10:g.6337249C>T	VUS	1 lab	d29b682dba
11:108098401 ATM A>G	11	108098401	108098401	A	G	ATM	c.50A>G	NM_000051.4	NP_000042.3:p.(His17Arg)	NC_000011.9:g.108098401A>G	VUS	1 lab	d29b72c341
6:33403069 SYNGAP1 AG>A	6	33403069	33403070	AG	A	SYNGAP1	c.651del	NM_006772.3	NP_006763.2:p.(Glu217AspfsTer6)	NC_000006.11:g.33403070del	(Likely) pathogenic	1 lab	2bccc95cf0
15:72180440 MYO9A C>T	15	72180440	72180440	C	T	MYO9A	c.5160G>A	NM_006901.4	NP_008832.2:p.(Ser1720=)	NC_000015.9:g.72180440C>T	(Likely) benign	1 lab	d29d4b6d66
14:103420529 CDC42BPB C>A	14	103420529	103420529	C	A	CDC42BPB	c.3066+6G>T	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103420529C>A	(Likely) benign	1 lab	d29d87cec1
12:111786101 CUX2 G>A	12	111786101	111786101	G	A	CUX2	c.4433G>A	NM_015267.4	NP_056082.2:p.(Arg1478Gln)	NC_000012.11:g.111786101G>A	VUS	1 lab	d29e017464
17:59793428 BRIP1 A>G	17	59793428	59793428	A	G	BRIP1	c.2380-4T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59793428A>G	(Likely) benign	1 lab	d29e85ef64
X:21508572 CNKSR2 T>C	X	21508572	21508572	T	C	CNKSR2	c.562-5T>C	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21508572T>C	(Likely) benign	1 lab	2db9958d4b
19:36223698 KMT2B C>T	19	36223698	36223698	C	T	KMT2B	c.6248C>T	NM_014727.3	NP_055542.1:p.(Thr2083Met)	NC_000019.9:g.36223698C>T	(Likely) benign	1 lab	d29ee8700e
19:22156850 ZNF208 A>G	19	22156850	22156850	A	G	ZNF208	c.986T>C	NM_007153.3	NP_009084.2:p.(Ile329Thr)	NC_000019.9:g.22156850A>G	VUS	1 lab	d29f4654a0
5:126758444 MEGF10 G>A	5	126758444	126758444	G	A	MEGF10	c.1673G>A	NM_001256545.2	NP_001243474.1:p.(Arg558His)	NC_000005.9:g.126758444G>A	VUS	1 lab	d2a1ed257f
2:24233069 MFSD2B G>T	2	24233069	24233069	G	T	MFSD2B	c.96+7G>T	NM_001346880.2	NP_001333809.1:p.?	NC_000002.11:g.24233069G>T	(Likely) benign	1 lab	d2a25f0b13
6:32947979 BRD2 A>G	6	32947979	32947979	A	G	BRD2	c.2251+70A>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32947979A>G	(Likely) benign	1 lab	2dbb2c1d0e
1:47882397 FOXE3 G>A	1	47882397	47882397	G	A	FOXE3	c.410G>A	NM_012186.3	NP_036318.1:p.(Gly137Asp)	NC_000001.10:g.47882397G>A	VUS	1 lab	d2a344f1de
X:36089996 CFAP47 A>T	X	36089996	36089996	A	T	CFAP47	c.4373A>T	NM_001304548.2	NP_001291477.1:p.(Asp1458Val)	NC_000023.10:g.36089996A>T	(Likely) benign	1 lab	d2a37cc84c
9:133759553 ABL1 G>A	9	133759553	133759553	G	A	ABL1	c.1876G>A	NM_005157.6	NP_005148.2:p.(Gly626Ser)	NC_000009.11:g.133759553G>A	(Likely) benign	1 lab	d2a3c59d9f
5:140503177 PCDHB4 T>A	5	140503177	140503177	T	A	PCDHB4	c.1597T>A	NM_018938.4	NP_061761.1:p.(Ser533Thr)	NC_000005.9:g.140503177T>A	VUS	1 lab	d2a590cc19
X:105280723 SERPINA7 C>A	X	105280723	105280723	C	A	SERPINA7	c.327G>T	NM_000354.6	NP_000345.2:p.(Gln109His)	NC_000023.10:g.105280723C>A	VUS	1 lab	d2a5c7dcdb
16:2150191 PKD1 C>T	16	2150191	2150191	C	T	PKD1	c.9688G>A	NM_001009944.3	NP_001009944.3:p.(Val3230Met)	NC_000016.9:g.2150191C>T	VUS	1 lab	d2a89918a1
1:156108492 LMNA G>A	1	156108492	156108492	G	A	LMNA	c.1912G>A	NM_170707.4	NP_733821.1:p.(Gly638Arg)	NC_000001.10:g.156108492G>A	(Likely) benign	1 lab	d2ab12eed6
6:108582121 SNX3 G>A	6	108582121	108582121	G	A	SNX3	c.5C>T	NM_003795.6	NP_003786.1:p.(Ala2Val)	NC_000006.11:g.108582121G>A	(Likely) benign	1 lab	d2ab4e4534
X:108628518 GUCY2F A>C	X	108628518	108628518	A	C	GUCY2F	c.2957-7T>G	NM_001522.3	NP_001513.2:p.?	NC_000023.10:g.108628518A>C	(Likely) benign	1 lab	d2ac69e564
1:40723951 ZMPSTE24 T>C	1	40723951	40723951	T	C	ZMPSTE24	c.8T>C	NM_005857.5	NP_005848.2:p.(Met3Thr)	NC_000001.10:g.40723951T>C	(Likely) benign	1 lab	d2ac72bd7e
9:131394755 SPTAN1 G>C	9	131394755	131394755	G	C	SPTAN1	c.7005G>C	NM_001130438.3	NP_001123910.1:p.(Met2335Ile)	NC_000009.11:g.131394755G>C	(Likely) benign	1 lab	d2b3a336c0
2:220439634 INHA G>A	2	220439634	220439634	G	A	INHA	c.487G>A	NM_002191.4	NP_002182.1:p.(Val163Met)	NC_000002.11:g.220439634G>A	(Likely) benign	1 lab	d2b5e6d293
17:42082327 NAGS G>T	17	42082327	42082327	G	T	NAGS	c.296G>T	NM_153006.3	NP_694551.1:p.(Arg99Leu)	NC_000017.10:g.42082327G>T	VUS	1 lab	d2b6196d8c
2:112638399 ANAPC1 A>T	2	112638399	112638399	A	T	ANAPC1	c.4T>A	NM_022662.4	NP_073153.1:p.(Ser2Thr)	NC_000002.11:g.112638399A>T	VUS	1 lab	d2b89b3888
22:19504134 CDC45 A>G	22	19504134	19504134	A	G	CDC45	c.1525A>G	NM_003504.5	NP_003495.1:p.(Ile509Val)	NC_000022.10:g.19504134A>G	VUS	1 lab	d2bb716348
18:19093889 GREB1L G>A	18	19093889	19093889	G	A	GREB1L	c.4843G>A	NM_001142966.3	NP_001136438.1:p.(Val1615Ile)	NC_000018.9:g.19093889G>A	VUS	1 lab	d2bcc3f517
16:88926026 TRAPPC2L C>T	16	88926026	88926026	C	T	TRAPPC2L	c.207-45C>T	NM_001318525.2	NP_001305454.1:p.?	NC_000016.9:g.88926026C>T	(Likely) benign	1 lab	d2bd113017
16:71113814 HYDIN G>C	16	71113814	71113814	G	C	HYDIN	c.1712C>G	NM_001270974.2	NP_001257903.1:p.(Ala571Gly)	NC_000016.9:g.71113814G>C	(Likely) benign	1 lab	d2be609f2a
X:54784943 ITIH6 C>T	X	54784943	54784943	C	T	ITIH6	c.1564G>A	NM_198510.3	NP_940912.1:p.(Ala522Thr)	NC_000023.10:g.54784943C>T	VUS	1 lab	d2bf3eb2c3
X:153592736 FLNA T>C	X	153592736	153592736	T	C	FLNA	c.2027A>G	NM_001110556.2	NP_001104026.1:p.(Lys676Arg)	NC_000023.10:g.153592736T>C	(Likely) benign	1 lab	d2c0561c12
1:154955875 FLAD1 TGA>T	1	154955875	154955880	TGA	T	FLAD1	c.-292_-291del	NM_025207.5	NP_079483.3:p.?	NC_000001.10:g.154955879_154955880del	(Likely) benign	1 lab	d2c06942ba
7:100373458 ZAN G>A	7	100373458	100373458	G	A	ZAN	c.6192+3G>A	NM_003386.3	NP_003377.2:p.?	NC_000007.13:g.100373458G>A	(Likely) benign	1 lab	d2c31f66a4
16:58589811 CNOT1 C>T	16	58589811	58589811	C	T	CNOT1	c.2481G>A	NM_016284.5	NP_057368.3:p.(Ser827=)	NC_000016.9:g.58589811C>T	(Likely) benign	1 lab	d2c33a1218
9:139751649 MAMDC4 G>A	9	139751649	139751649	G	A	MAMDC4	c.2005G>A	NM_206920.3	NP_996803.2:p.(Glu669Lys)	NC_000009.11:g.139751649G>A	(Likely) benign	1 lab	d2c549b7c7
15:49054632 CEP152 C>T	15	49054632	49054632	C	T	CEP152	c.2518G>A	NM_001194998.2	NP_001181927.1:p.(Glu840Lys)	NC_000015.9:g.49054632C>T	VUS	1 lab	d2c7722a85
8:104778455 RIMS2 G>A	8	104778455	104778455	G	A	RIMS2	c.520G>A	NM_001348484.3	NP_001335413.1:p.(Val174Ile)	NC_000008.10:g.104778455G>A	(Likely) benign	1 lab	d2c9288acb
7:31011683 GHRHR C>T	7	31011683	31011683	C	T	GHRHR	c.570C>T	NM_000823.4	NP_000814.2:p.(Asp190=)	NC_000007.13:g.31011683C>T	(Likely) benign	1 lab	d2c98630c3
15:42168403 SPTBN5 G>A	15	42168403	42168403	G	A	SPTBN5	c.4031C>T	NM_016642.4	NP_057726.4:p.(Ala1344Val)	NC_000015.9:g.42168403G>A	(Likely) benign	1 lab	d2c9c0e275
X:34962538 FAM47B G>C	X	34962538	34962538	G	C	FAM47B	c.1590G>C	NM_152631.3	NP_689844.2:p.(Arg530Ser)	NC_000023.10:g.34962538G>C	(Likely) benign	1 lab	d2ca37b471
14:99697771 BCL11B G>C	14	99697771	99697771	G	C	BCL11B	c.551C>G	NM_138576.4	NP_612808.1:p.(Pro184Arg)	NC_000014.8:g.99697771G>C	VUS	1 lab	d31f8c948f
6:117246698 RFX6 C>T	6	117246698	117246698	C	T	RFX6	c.1761C>T	NM_173560.4	NP_775831.2:p.(Asp587=)	NC_000006.11:g.117246698C>T	(Likely) benign	1 lab	d2cb9761e1
1:36644386 MAP7D1 C>A	1	36644386	36644386	C	A	MAP7D1	c.1987C>A	NM_001388490.1	NP_001375419.1:p.(Gln663Lys)	NC_000001.10:g.36644386C>A	VUS	1 lab	d2cbd5b6d7
1:228562125 OBSCN G>A	1	228562125	228562125	G	A	OBSCN	c.25366G>A	NM_001386125.1	NP_001373054.1:p.(Asp8456Asn)	NC_000001.10:g.228562125G>A	(Likely) benign	1 lab	d2cd1c5e39
10:79745036 POLR3A C>G	10	79745036	79745036	C	G	POLR3A	c.3134G>C	NM_007055.4	NP_008986.2:p.(Gly1045Ala)	NC_000010.10:g.79745036C>G	VUS	1 lab	d2cd5387b1
17:78310185 RNF213 C>G	17	78310185	78310185	C	G	RNF213	c.4527+7C>G	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78310185C>G	VUS	1 lab	d2cdafd64e
X:69573474 KIF4A A>G	X	69573474	69573474	A	G	KIF4A	c.1491A>G	NM_012310.5	NP_036442.3:p.(Gln497=)	NC_000023.10:g.69573474A>G	VUS	1 lab	d2cde586ce
11:118461082 ARCN1 T>C	11	118461082	118461082	T	C	ARCN1	c.845T>C	NM_001655.5	NP_001646.2:p.(Ile282Thr)	NC_000011.9:g.118461082T>C	VUS	1 lab	d2cf7e4cab
14:105453091 CLBA1 A>G	14	105453091	105453091	A	G	CLBA1	c.323A>G	NM_174891.4	NP_777551.2:p.(Gln108Arg)	NC_000014.8:g.105453091A>G	(Likely) benign	1 lab	d2d04c3e87
12:111758348 CUX2 AC>A	12	111758348	111758354	AC	A	CUX2	c.2541del	NM_015267.4	NP_056082.2:p.(Arg848GlyfsTer29)	NC_000012.11:g.111758354del	VUS	1 lab	d2d07a33ca
17:10323402 MYH8 G>A	17	10323402	10323402	G	A	MYH8	c.143C>T	NM_002472.3	NP_002463.2:p.(Ser48Phe)	NC_000017.10:g.10323402G>A	(Likely) benign	1 lab	d2d0d66bc5
12:121435372 HNF1A C>T	12	121435372	121435372	C	T	HNF1A	c.1405C>T	NM_000545.8	NP_000536.6:p.(His469Tyr)	NC_000012.11:g.121435372C>T	VUS	1 lab	d2d18b8753
2:166153499 SCN2A A>G	2	166153499	166153499	A	G	SCN2A	c.268-28A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166153499A>G	(Likely) benign	1 lab	2dbf3b95d4
10:89720679 PTEN C>A	10	89720679	89720679	C	A	PTEN	c.830C>A	NM_000314.8	NP_000305.3:p.(Thr277Lys)	NC_000010.10:g.89720679C>A	VUS	1 lab	d2d2f2289f
22:36716371 MYH9 G>C	22	36716371	36716371	G	C	MYH9	c.906C>G	NM_002473.6	NP_002464.1:p.(Phe302Leu)	NC_000022.10:g.36716371G>C	VUS	1 lab	d2d528d43e
16:50136246 HEATR3 T>A	16	50136246	50136246	T	A	HEATR3	c.1820T>A	NM_182922.4	NP_891552.1:p.(Leu607His)	NC_000016.9:g.50136246T>A	VUS	1 lab	d2d67747bd
17:80043004 FASN C>T	17	80043004	80043004	C	T	FASN	c.4316G>A	NM_004104.5	NP_004095.4:p.(Arg1439Gln)	NC_000017.10:g.80043004C>T	VUS	1 lab	d2d78500e9
10:101165615 GOT1 A>T	10	101165615	101165615	A	T	GOT1	c.540T>A	NM_002079.3	NP_002070.1:p.(Asn180Lys)	NC_000010.10:g.101165615A>T	VUS	1 lab	d2d796bc40
1:175375511 TNR A>G	1	175375511	175375511	A	G	TNR	c.340T>C	NM_003285.3	NP_003276.3:p.(Phe114Leu)	NC_000001.10:g.175375511A>G	VUS	1 lab	d2d7b14c69
4:39219676 WDR19 G>T	4	39219676	39219676	G	T	WDR19	c.1430G>T	NM_025132.4	NP_079408.3:p.(Arg477Leu)	NC_000004.11:g.39219676G>T	VUS	1 lab	d2d835bf94
X:41586722 CASK A>T	X	41586722	41586722	A	T	CASK	c.429+11915T>A	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41586722A>T	VUS	1 lab	d2d85a561c
19:57286738 ZIM2 G>A	19	57286738	57286738	G	A	ZIM2	c.995C>T	NM_001387356.1	NP_001374285.1:p.(Pro332Leu)	NC_000019.9:g.57286738G>A	VUS	1 lab	d2d971b1b1
6:65301439 EYS G>A	6	65301439	65301439	G	A	EYS	c.4321C>T	NM_001142800.2	NP_001136272.1:p.(Gln1441Ter)	NC_000006.11:g.65301439G>A	VUS	1 lab	d2d9c2d7db
7:94030941 COL1A2 A>C	7	94030941	94030941	A	C	COL1A2	c.279+9A>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94030941A>C	VUS	1 lab	d2d9e5fdbf
16:602974 CAPN15 G>A	16	602974	602974	G	A	CAPN15	c.3016G>A	NM_005632.3	NP_005623.1:p.(Asp1006Asn)	NC_000016.9:g.602974G>A	VUS	1 lab	d2d9e81324
3:49700568 BSN TGAG>T	3	49700568	49700574	TGAG	T	BSN	c.10981_10983del	NM_003458.4	NP_003449.2:p.(Glu3661del)	NC_000003.11:g.49700572_49700574del	VUS	1 lab	d2db871945
9:136409666 ADAMTSL2 G>A	9	136409666	136409666	G	A	ADAMTSL2	c.757G>A	NM_014694.4	NP_055509.2:p.(Val253Met)	NC_000009.11:g.136409666G>A	VUS	1 lab	d2dc34e16e
5:13911508 DNAH5 G>A	5	13911508	13911508	G	A	DNAH5	c.1631C>T	NM_001369.3	NP_001360.1:p.(Thr544Ile)	NC_000005.9:g.13911508G>A	(Likely) benign	1 lab	d2dc8baa93
3:171452701 PLD1 C>T	3	171452701	171452701	C	T	PLD1	c.494G>A	NM_002662.5	NP_002653.1:p.(Arg165His)	NC_000003.11:g.171452701C>T	(Likely) benign	1 lab	2bcd9600bc
2:216262405 FN1 G>A	2	216262405	216262405	G	A	FN1	c.3515C>T	NM_212482.4	NP_997647.2:p.(Thr1172Ile)	NC_000002.11:g.216262405G>A	VUS	1 lab	d2dccd8ece
13:113475917 ATP11A G>A	13	113475917	113475917	G	A	ATP11A	c.725+1653G>A	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113475917G>A	(Likely) benign	1 lab	d2df2f64b8
8:100844608 VPS13B TCCAGACAGTGCTAC>T	8	100844608	100844622	TCCAGACAGTGCTAC	T	VPS13B	c.9343_9356del	NM_152564.5	NP_689777.3:p.(Pro3115PhefsTer2)	NC_000008.10:g.100844609_100844622del	(Likely) benign	1 lab	d2e1127d8d
1:16255379 SPEN C>A	1	16255379	16255379	C	A	SPEN	c.2644C>A	NM_015001.3	NP_055816.2:p.(Arg882=)	NC_000001.10:g.16255379C>A	(Likely) benign	1 lab	d2e2664692
19:39994863 DLL3 G>A	19	39994863	39994863	G	A	DLL3	c.805G>A	NM_203486.3	NP_982353.1:p.(Gly269Arg)	NC_000019.9:g.39994863G>A	(Likely) benign	1 lab	d2e3ed85cb
4:5630368 EVC2 G>T	4	5630368	5630368	G	T	EVC2	c.1804C>A	NM_147127.5	NP_667338.3:p.(Leu602Ile)	NC_000004.11:g.5630368G>T	VUS	1 lab	d2e41de95d
9:74349917 CEMIP2 CAA>C	9	74349917	74349931	CAA	C	CEMIP2	c.1205-9_1205-8del	NM_013390.3	NP_037522.1:p.?	NC_000009.11:g.74349930_74349931del	(Likely) benign	1 lab	d2e553cc82
8:22273704 SLC39A14 T>G	8	22273704	22273704	T	G	SLC39A14	c.1058T>G	NM_001128431.4	NP_001121903.1:p.(Leu353Arg)	NC_000008.10:g.22273704T>G	VUS	1 lab	d2e6b65e21
12:109939213 UBE3B C>G	12	109939213	109939213	C	G	UBE3B	c.1156C>G	NM_130466.4	NP_569733.2:p.(Gln386Glu)	NC_000012.11:g.109939213C>G	VUS	1 lab	d2e700c5f7
4:122735034 EXOSC9 G>A	4	122735034	122735034	G	A	EXOSC9	c.988G>A	NM_005033.3	NP_005024.2:p.(Val330Met)	NC_000004.11:g.122735034G>A	(Likely) benign	1 lab	d2e9022328
6:17764444 KIF13A G>C	6	17764444	17764444	G	C	KIF13A	c.5315C>G	NM_022113.6	NP_071396.4:p.(Thr1772Ser)	NC_000006.11:g.17764444G>C	VUS	1 lab	d2e94a3f16
9:94487106 ROR2 G>A	9	94487106	94487106	G	A	ROR2	c.1670C>T	NM_004560.4	NP_004551.2:p.(Ser557Leu)	NC_000009.11:g.94487106G>A	(Likely) benign	1 lab	d2ea078f8e
16:89350883 ANKRD11 G>C	16	89350883	89350883	G	C	ANKRD11	c.2067C>G	NM_013275.6	NP_037407.4:p.(His689Gln)	NC_000016.9:g.89350883G>C	VUS	1 lab	d2ec910ff1
7:70255917 AUTS2 C>A	7	70255917	70255917	C	A	AUTS2	c.3715C>A	NM_015570.4	NP_056385.1:p.(Pro1239Thr)	NC_000007.13:g.70255917C>A	VUS	1 lab	d2edd36405
11:17438465 ABCC8 C>T	11	17438465	17438465	C	T	ABCC8	c.2255+12G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17438465C>T	(Likely) benign	1 lab	d2ef8c8eb9
9:79323214 PRUNE2 T>G	9	79323214	79323214	T	G	PRUNE2	c.3976A>C	NM_015225.3	NP_056040.2:p.(Ser1326Arg)	NC_000009.11:g.79323214T>G	(Likely) benign	1 lab	d2efa626f1
7:73455658 ELN C>T	7	73455658	73455658	C	T	ELN	c.232+77C>T	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73455658C>T	(Likely) benign	1 lab	2dc048591a
22:41320373 XPNPEP3 G>A	22	41320373	41320373	G	A	XPNPEP3	c.1244G>A	NM_022098.4	NP_071381.1:p.(Arg415Gln)	NC_000022.10:g.41320373G>A	VUS	1 lab	d2f143fb50
17:260237 LIAT1 G>A	17	260237	260237	G	A	LIAT1	c.104G>A	NM_001013672.5	NP_001013694.4:p.(Gly35Glu)	NC_000017.10:g.260237G>A	(Likely) benign	1 lab	d2f1ed1f82
1:170521203 GORAB A>T	1	170521203	170521203	A	T	GORAB	c.710A>T	NM_152281.3	NP_689494.3:p.(Asp237Val)	NC_000001.10:g.170521203A>T	VUS	1 lab	d2f2b7d791
4:16227880 TAPT1 A>C	4	16227880	16227880	A	C	TAPT1	c.199+2T>G	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16227880A>C	VUS	1 lab	d2f2e0ccfb
19:36214737 KMT2B C>T	19	36214737	36214737	C	T	KMT2B	c.3163C>T	NM_014727.3	NP_055542.1:p.(Arg1055Trp)	NC_000019.9:g.36214737C>T	VUS	1 lab	d2f2efb5ee
11:46407711 CHRM4 A>G	11	46407711	46407711	A	G	CHRM4	c.397T>C	NM_000741.5	NP_000732.2:p.(Cys133Arg)	NC_000011.9:g.46407711A>G	VUS	1 lab	d2f3eddc45
11:68707114 IGHMBP2 G>A	11	68707114	68707114	G	A	IGHMBP2	c.2897G>A	NM_002180.3	NP_002171.2:p.(Arg966Lys)	NC_000011.9:g.68707114G>A	VUS	1 lab	d2f4cbd9bf
19:36224351 KMT2B G>C	19	36224351	36224351	G	C	KMT2B	c.6901G>C	NM_014727.3	NP_055542.1:p.(Asp2301His)	NC_000019.9:g.36224351G>C	(Likely) benign	1 lab	d2f53b29f9
19:4513025 PLIN4 T>C	19	4513025	4513025	T	C	PLIN4	c.947A>G	NM_001367868.2	NP_001354797.1:p.(Lys316Arg)	NC_000019.9:g.4513025T>C	(Likely) benign	1 lab	d2f5c35c69
2:238283315 COL6A3 G>A	2	238283315	238283315	G	A	COL6A3	c.3419C>T	NM_004369.4	NP_004360.2:p.(Thr1140Met)	NC_000002.11:g.238283315G>A	VUS	1 lab	d2f6838293
11:2187267 TH C>T	11	2187267	2187267	C	T	TH	c.1069G>A	NM_000360.4	NP_000351.2:p.(Gly357Arg)	NC_000011.9:g.2187267C>T	(Likely) benign	1 lab	d2f7ecac27
9:136404935 ADAMTSL2 G>A	9	136404935	136404935	G	A	ADAMTSL2	c.352G>A	NM_014694.4	NP_055509.2:p.(Val118Ile)	NC_000009.11:g.136404935G>A	(Likely) benign	1 lab	d2f857f64d
9:2081982 SMARCA2 A>G	9	2081982	2081982	A	G	SMARCA2	c.2335A>G	NM_003070.5	NP_003061.3:p.(Ile779Val)	NC_000009.11:g.2081982A>G	VUS	1 lab	d2f8c529e3
15:90174923 KIF7 C>A	15	90174923	90174923	C	A	KIF7	c.2914G>T	NM_198525.3	NP_940927.2:p.(Val972Leu)	NC_000015.9:g.90174923C>A	VUS	1 lab	d2f9b25d63
X:24665203 PCYT1B T>A	X	24665203	24665203	T	A	PCYT1B	c.20A>T	NM_004845.5	NP_004836.2:p.(Asp7Val)	NC_000023.10:g.24665203T>A	VUS	1 lab	d2fc55c0a9
12:133249733 POLE G>A	12	133249733	133249733	G	A	POLE	c.1473+17C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133249733G>A	VUS	1 lab	d2fe69f34c
18:72999716 TSHZ1 C>T	18	72999716	72999716	C	T	TSHZ1	c.2354C>T	NM_001308210.2	NP_001295139.1:p.(Pro785Leu)	NC_000018.9:g.72999716C>T	VUS	1 lab	d2ff2e2d55
13:32953650 BRCA2 C>G	13	32953650	32953650	C	G	BRCA2	c.8951C>G	NM_000059.4	NP_000050.3:p.(Ser2984Ter)	NC_000013.10:g.32953650C>G	(Likely) pathogenic	1 lab	d2ff5ca16c
17:18051467 MYO15A G>C	17	18051467	18051467	G	C	MYO15A	c.6634G>C	NM_016239.4	NP_057323.3:p.(Glu2212Gln)	NC_000017.10:g.18051467G>C	(Likely) pathogenic	1 lab	d2ff9d553d
2:216257770 FN1 G>C	2	216257770	216257770	G	C	FN1	c.3953C>G	NM_212482.4	NP_997647.2:p.(Ser1318Cys)	NC_000002.11:g.216257770G>C	(Likely) benign	1 lab	d2ffd287a7
1:63044643 DOCK7 T>A	1	63044643	63044643	T	A	DOCK7	c.1872-6A>T	NM_001367561.1	NP_001354490.1:p.?	NC_000001.10:g.63044643T>A	(Likely) benign	1 lab	d300f1c8af
17:79171940 CEP131 C>T	17	79171940	79171940	C	T	CEP131	c.1445G>A	NM_014984.4	NP_055799.2:p.(Arg482Lys)	NC_000017.10:g.79171940C>T	(Likely) benign	1 lab	d3026e1d6e
12:133721104 ZNF10 G>A	12	133721104	133721104	G	A	ZNF10	c.26G>A	NM_015394.5	NP_056209.2:p.(Trp9Ter)	NC_000012.11:g.133721104G>A	VUS	1 lab	d302990124
8:61693860 CHD7 C>T	8	61693860	61693860	C	T	CHD7	c.1967C>T	NM_017780.4	NP_060250.2:p.(Pro656Leu)	NC_000008.10:g.61693860C>T	(Likely) benign	1 lab	d303b823af
1:17320242 ATP13A2 C>T	1	17320242	17320242	C	T	ATP13A2	c.1631G>A	NM_022089.4	NP_071372.1:p.(Arg544His)	NC_000001.10:g.17320242C>T	VUS	1 lab	d304ba67e8
9:135946887 CEL C>T	9	135946887	135946887	C	T	CEL	c.1998C>T	NM_001807.6	NP_001798.3:p.(Gly666=)	NC_000009.11:g.135946887C>T	(Likely) benign	1 lab	d3057644d8
14:74969968 LTBP2 G>A	14	74969968	74969968	G	A	LTBP2	c.4842C>T	NM_000428.3	NP_000419.1:p.(Gly1614=)	NC_000014.8:g.74969968G>A	VUS	1 lab	d30650a22b
9:94495530 ROR2 C>T	9	94495530	94495530	C	T	ROR2	c.811G>A	NM_004560.4	NP_004551.2:p.(Ala271Thr)	NC_000009.11:g.94495530C>T	VUS	1 lab	d30677fc17
3:160786863 PPM1L A>G	3	160786863	160786863	A	G	PPM1L	c.1001A>G	NM_139245.4	NP_640338.2:p.(Gln334Arg)	NC_000003.11:g.160786863A>G	VUS	1 lab	d3067d97eb
X:109352302 TMEM164 C>T	X	109352302	109352302	C	T	TMEM164	c.441-6C>T	NM_032227.4	NP_115603.2:p.?	NC_000023.10:g.109352302C>T	(Likely) benign	1 lab	d30881dd3c
15:57545502 TCF12 A>G	15	57545502	57545502	A	G	TCF12	c.1303A>G	NM_207037.2	NP_996920.1:p.(Ile435Val)	NC_000015.9:g.57545502A>G	(Likely) benign	1 lab	d309bc34c7
17:49238554 NME1 C>T	17	49238554	49238554	C	T	NME1	c.262C>T	NM_000269.3	NP_000260.1:p.(Arg88Ter)	NC_000017.10:g.49238554C>T	VUS	1 lab	d30a280b09
X:65428056 HEPH C>G	X	65428056	65428056	C	G	HEPH	c.2531C>G	NM_001367233.3	NP_001354162.2:p.(Ser844Cys)	NC_000023.10:g.65428056C>G	(Likely) benign	1 lab	d30ada7eb8
6:110534290 CDC40 G>T	6	110534290	110534290	G	T	CDC40	c.869G>T	NM_015891.3	NP_056975.1:p.(Gly290Val)	NC_000006.11:g.110534290G>T	VUS	1 lab	d30d6ffc1e
3:48451052 PLXNB1 C>T	3	48451052	48451052	C	T	PLXNB1	c.5866G>A	NM_001130082.3	NP_001123554.1:p.(Asp1956Asn)	NC_000003.11:g.48451052C>T	VUS	1 lab	d30ec17d0b
11:61551847 MYRF AG>A	11	61551847	61551849	AG	A	MYRF	c.3292del	NM_001127392.3	NP_001120864.1:p.(Asp1098ThrfsTer11)	NC_000011.9:g.61551849del	(Likely) pathogenic	1 lab	2bd0ca7c05
16:79633406 MAF C>A	16	79633406	79633406	C	A	MAF	c.394G>T	NM_005360.5	NP_005351.2:p.(Ala132Ser)	NC_000016.9:g.79633406C>A	VUS	1 lab	d31260fad7
11:108124664 ATM C>G	11	108124664	108124664	C	G	ATM	c.2022C>G	NM_000051.4	NP_000042.3:p.(His674Gln)	NC_000011.9:g.108124664C>G	VUS	1 lab	d313d56473
11:95546119 CEP57 C>G	11	95546119	95546119	C	G	CEP57	c.226C>G	NM_014679.5	NP_055494.2:p.(Leu76Val)	NC_000011.9:g.95546119C>G	VUS	1 lab	d31843deb4
3:4738357 ITPR1 GTT>G	3	4738357	4738376	GTT	G	ITPR1	c.4282-456_4282-455del	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4738375_4738376del	(Likely) benign	1 lab	d3186f3702
16:30721207 SRCAP G>T	16	30721207	30721207	G	T	SRCAP	c.892G>T	NM_006662.3	NP_006653.2:p.(Asp298Tyr)	NC_000016.9:g.30721207G>T	VUS	1 lab	2bd1dbf9f3
7:107204416 DUS4L G>GGCC	7	107204416	107204417	G	GGCC	DUS4L	c.-349_-348insGCC	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204416_107204417insGCC	(Likely) benign	1 lab	d319b456e1
18:59807708 PIGN T>A	18	59807708	59807708	T	A	PIGN	c.968A>T	NM_176787.5	NP_789744.1:p.(Asp323Val)	NC_000018.9:g.59807708T>A	VUS	1 lab	d31a047086
1:119427687 TBX15 G>C	1	119427687	119427687	G	C	TBX15	c.1477C>G	NM_001330677.2	NP_001317606.1:p.(Pro493Ala)	NC_000001.10:g.119427687G>C	(Likely) benign	1 lab	d31afc9ef6
1:16261979 SPEN C>A	1	16261979	16261979	C	A	SPEN	c.9244C>A	NM_015001.3	NP_055816.2:p.(His3082Asn)	NC_000001.10:g.16261979C>A	VUS	1 lab	d328818cd4
10:124221202 HTRA1 C>CCT	10	124221202	124221203	C	CCT	HTRA1	c.34_35insCT	NM_002775.5	NP_002766.1:p.(Leu12ProfsTer204)	NC_000010.10:g.124221202_124221203insCT	(Likely) benign	1 lab	d31c6dedf2
1:155408161 ASH1L G>A	1	155408161	155408161	G	A	ASH1L	c.5785C>T	NM_018489.3	NP_060959.2:p.(Gln1929Ter)	NC_000001.10:g.155408161G>A	(Likely) pathogenic	1 lab	2dc16ea435
5:13841152 DNAH5 T>C	5	13841152	13841152	T	C	DNAH5	c.5572A>G	NM_001369.3	NP_001360.1:p.(Lys1858Glu)	NC_000005.9:g.13841152T>C	VUS	1 lab	d31f4cee4b
2:179592984 TTN T>C	2	179592984	179592984	T	C	TTN	c.19567A>G	NM_001267550.2	NP_001254479.2:p.(Thr6523Ala)	NC_000002.11:g.179592984T>C	VUS	1 lab	d320052993
X:30852234 TAB3 G>C	X	30852234	30852234	G	C	TAB3	c.1924C>G	NM_152787.5	NP_690000.3:p.(Arg642Gly)	NC_000023.10:g.30852234G>C	(Likely) benign	1 lab	d321c333ac
6:35201057 SCUBE3 A>G	6	35201057	35201057	A	G	SCUBE3	c.691A>G	NM_152753.4	NP_689966.2:p.(Thr231Ala)	NC_000006.11:g.35201057A>G	(Likely) benign	1 lab	d3235f630d
1:151377505 POGZ T>G	1	151377505	151377505	T	G	POGZ	c.4006A>C	NM_015100.4	NP_055915.2:p.(Ile1336Leu)	NC_000001.10:g.151377505T>G	VUS	1 lab	d324f7a10a
9:86474230 KIF27 C>G	9	86474230	86474230	C	G	KIF27	c.2991G>C	NM_017576.4	NP_060046.1:p.(Glu997Asp)	NC_000009.11:g.86474230C>G	VUS	1 lab	d3312dcfb3
19:4511737 PLIN4 T>TTTGGCCACATTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGTACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACGTTCACAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGTACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCGTCTGGACGGCCCCC	19	4511737	4511772	T	TTTGGCCACATTCGCAGCACCGGTCACCCCACTGCCAAGGGTGTTCTTTGTACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACGTTCACAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGTACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCGTCTGGACGGCCCCC	PLIN4	c.2234_2235insGGGGGCCGTCCAGACGGGTGTAGACACGGCCAAGACCGTGCTGACCGGTACCAAGGACACTGTCTGCAGTGGGGTCACCGGTGCTGTGAACGTGGCCAAGGGTGCTGTGCAAACTGGGCTGAAAACGACCCAAAATATCGCAACAGGTACAAAGAACACCCTTGGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAA	NM_001367868.2	NP_001354797.1:p.(Ala747_Ile748insValGlnThrGlyValAspThrAlaLysThrValLeuThrGlyThrLysAspThrValCysSerGlyValThrGlyAlaValAsnValAlaLysGlyAlaValGlnThrGlyLeuLysThrThrGlnAsnIleAlaThrGlyThrLysAsnThrLeuGlySerGlyValThrGlyAlaAlaAsnValAlaLysGlyAla)	NC_000019.9:g.4511771_4511772insCAAGGGTGTTCTTTGTACCTGTTGCGATATTTTGGGTCGTTTTCAGCCCAGTTTGCACAGCACCCTTGGCCACGTTCACAGCACCGGTGACCCCACTGCAGACAGTGTCCTTGGTACCGGTCAGCACGGTCTTGGCCGTGTCTACACCCGTCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTGC	VUS	1 lab	d3269052a3
14:92480795 TRIP11 T>A	14	92480795	92480795	T	A	TRIP11	c.950A>T	NM_004239.4	NP_004230.2:p.(Asp317Val)	NC_000014.8:g.92480795T>A	VUS	1 lab	d32748dbb9
17:79817271 P4HB C>T	17	79817271	79817271	C	T	P4HB	c.146-8G>A	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79817271C>T	(Likely) benign	1 lab	d327a8319e
12:113603690 DDX54 C>T	12	113603690	113603690	C	T	DDX54	c.1562G>A	NM_024072.4	NP_076977.3:p.(Arg521His)	NC_000012.11:g.113603690C>T	(Likely) benign	1 lab	d329c20a48
4:660314 PDE6B C>T	4	660314	660314	C	T	PDE6B	c.2269-6C>T	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.660314C>T	(Likely) benign	1 lab	d32b9a8432
6:35423675 FANCE C>T	6	35423675	35423675	C	T	FANCE	c.400C>T	NM_021922.3	NP_068741.1:p.(Arg134Cys)	NC_000006.11:g.35423675C>T	(Likely) benign	1 lab	d32ba75843
4:15552438 CC2D2A GG>AA	4	15552438	15552439	GG	AA	CC2D2A	c.2182-9_2182-8delinsAA	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15552438_15552439delinsAA	VUS	1 lab	d32c5a7617
17:45376842 ITGB3 A>G	17	45376842	45376842	A	G	ITGB3	c.1859A>G	NM_000212.3	NP_000203.2:p.(Tyr620Cys)	NC_000017.10:g.45376842A>G	VUS	1 lab	d32c7ada8d
16:3293324 MEFV G>A	16	3293324	3293324	G	A	MEFV	c.2163C>T	NM_000243.2	NP_000234.1:p.(Phe721=)	NC_000016.9:g.3293324G>A	(Likely) benign	1 lab	2dc3576159
9:14307435 NFIB G>A	9	14307435	14307435	G	A	NFIB	c.115C>T	NM_001190737.2	NP_001177666.1:p.(Arg39Cys)	NC_000009.11:g.14307435G>A	VUS	1 lab	d32e41a101
8:100123454 VPS13B C>T	8	100123454	100123454	C	T	VPS13B	c.709C>T	NM_152564.5	NP_689777.3:p.(Arg237Cys)	NC_000008.10:g.100123454C>T	VUS	1 lab	d32eb81435
1:47024308 MKNK1 C>T	1	47024308	47024308	C	T	MKNK1	c.1178G>A	NM_001135553.4	NP_001129025.2:p.(Arg393Gln)	NC_000001.10:g.47024308C>T	(Likely) benign	1 lab	d330b7574c
19:3623393 CACTIN A>G	19	3623393	3623393	A	G	CACTIN	c.642+293T>C	NM_001080543.2	NP_001074012.1:p.?	NC_000019.9:g.3623393A>G	VUS	1 lab	d331169495
10:72358655 PRF1 G>A	10	72358655	72358655	G	A	PRF1	c.822C>T	NM_001083116.1	NP_001076585.1:p.(Ala274=)	NC_000010.10:g.72358655G>A	(Likely) benign	1 lab	2dc3bc4f02
1:200943869 KIF21B T>C	1	200943869	200943869	T	C	KIF21B	c.4787A>G	NM_001252102.2	NP_001239031.1:p.(Asn1596Ser)	NC_000001.10:g.200943869T>C	VUS	1 lab	d33220da37
2:119600534 EN1 C>A	2	119600534	119600534	C	A	EN1	c.1159G>T	NM_001426.4	NP_001417.3:p.(Asp387Tyr)	NC_000002.11:g.119600534C>A	VUS	1 lab	d337b4af5d
1:167847702 ADCY10 CA>C	1	167847702	167847704	CA	C	ADCY10	c.1387del	NM_018417.6	NP_060887.2:p.(Trp463GlyfsTer38)	NC_000001.10:g.167847704del	VUS	1 lab	d339d10646
9:89561693 GAS1 A>C	9	89561693	89561693	A	C	GAS1	c.2T>G	NM_002048.3	NP_002039.2:p.(Met1?)	NC_000009.11:g.89561693A>C	VUS	1 lab	d339ea01f2
19:17937710 JAK3 G>A	19	17937710	17937710	G	A	JAK3	c.3217C>T	NM_000215.4	NP_000206.2:p.(Leu1073Phe)	NC_000019.9:g.17937710G>A	(Likely) benign	1 lab	d33c3e609c
2:86274383 POLR1A A>G	2	86274383	86274383	A	G	POLR1A	c.2638T>C	NM_015425.6	NP_056240.2:p.(Cys880Arg)	NC_000002.11:g.86274383A>G	VUS	1 lab	d33d2c4aef
20:34797683 EPB41L1 A>C	20	34797683	34797683	A	C	EPB41L1	c.1942A>C	NM_012156.2	NP_036288.2:p.(Ser648Arg)	NC_000020.10:g.34797683A>C	(Likely) benign	1 lab	d33ddf0d4c
2:20200210 MATN3 G>T	2	20200210	20200210	G	T	MATN3	c.1160C>A	NM_002381.5	NP_002372.1:p.(Thr387Lys)	NC_000002.11:g.20200210G>T	VUS	1 lab	d33f356e58
5:149459790 CSF1R C>T	5	149459790	149459790	C	T	CSF1R	c.417G>A	NM_001288705.3	NP_001275634.1:p.(Ser139=)	NC_000005.9:g.149459790C>T	(Likely) benign	1 lab	d33f5847c4
1:23520033 HTR1D C>T	1	23520033	23520033	C	T	HTR1D	c.680G>A	NM_000864.5	NP_000855.1:p.(Arg227His)	NC_000001.10:g.23520033C>T	(Likely) benign	1 lab	d340dcf5ef
17:10534920 MYH3 C>T	17	10534920	10534920	C	T	MYH3	c.5286+8G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10534920C>T	(Likely) benign	1 lab	d341147397
6:88229415 RARS2 C>T	6	88229415	88229415	C	T	RARS2	c.1123G>A	NM_020320.5	NP_064716.2:p.(Val375Met)	NC_000006.11:g.88229415C>T	(Likely) benign	1 lab	d34177aba3
X:47073820 UBA1 A>G	X	47073820	47073820	A	G	UBA1	c.2933A>G	NM_003334.4	NP_003325.2:p.(Tyr978Cys)	NC_000023.10:g.47073820A>G	VUS	1 lab	d3429fe97c
X:40999979 USP9X TTAA>T	X	40999979	40999983	TTAA	T	USP9X	c.727_729del	NM_001039591.3	NP_001034680.2:p.(Asn243del)	NC_000023.10:g.40999981_40999983del	VUS	1 lab	d342f3a000
4:187557837 FAT1 C>T	4	187557837	187557837	C	T	FAT1	c.3874G>A	NM_005245.4	NP_005236.2:p.(Glu1292Lys)	NC_000004.11:g.187557837C>T	(Likely) benign	1 lab	2dc6051324
16:22159551 VWA3A A>G	16	22159551	22159551	A	G	VWA3A	c.2908A>G	NM_173615.5	NP_775886.3:p.(Met970Val)	NC_000016.9:g.22159551A>G	(Likely) benign	1 lab	d3473691b7
9:98229430 PTCH1 A>G	9	98229430	98229430	A	G	PTCH1	c.2528T>C	NM_000264.5	NP_000255.2:p.(Met843Thr)	NC_000009.11:g.98229430A>G	(Likely) benign	1 lab	d348c84849
X:152935938 PNCK G>A	X	152935938	152935938	G	A	PNCK	c.1006C>T	NM_001366977.1	NP_001353906.1:p.(Arg336Cys)	NC_000023.10:g.152935938G>A	(Likely) benign	1 lab	d348e25063
5:127670535 FBN2 A>G	5	127670535	127670535	A	G	FBN2	c.3975T>C	NM_001999.4	NP_001990.2:p.(Asp1325=)	NC_000005.9:g.127670535A>G	(Likely) benign	1 lab	d34a8321d2
17:1747246 RPA1 G>A	17	1747246	1747246	G	A	RPA1	c.117G>A	NM_002945.5	NP_002936.1:p.(Pro39=)	NC_000017.10:g.1747246G>A	(Likely) benign	1 lab	2dca0bc503
1:223178013 DISP1 G>A	1	223178013	223178013	G	A	DISP1	c.3274G>A	NM_001377229.1	NP_001364158.1:p.(Val1092Met)	NC_000001.10:g.223178013G>A	(Likely) benign	1 lab	d34cb9e620
15:31220709 FAN1 T>TTGTGTG	15	31220709	31220743	T	TTGTGTG	FAN1	c.2489-18_2489-13dup	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31220738_31220743dup	(Likely) benign	1 lab	2dca85ebf3
2:186656349 FSIP2 TGTG>T	2	186656349	186656355	TGTG	T	FSIP2	c.4490_4492del	NM_173651.4	NP_775922.3:p.(Gly1497del)	NC_000002.11:g.186656353_186656355del	VUS	1 lab	d35007b3fc
6:32030004 TNXB C>T	6	32030004	32030004	C	T	TNXB	c.7098G>A	NM_001365276.2	NP_001352205.1:p.(Lys2366=)	NC_000006.11:g.32030004C>T	(Likely) benign	1 lab	d35037b131
8:77617353 ZFHX4 G>A	8	77617353	77617353	G	A	ZFHX4	c.1030G>A	NM_024721.5	NP_078997.4:p.(Val344Ile)	NC_000008.10:g.77617353G>A	(Likely) benign	1 lab	d350ae7a46
2:179396343 TTN T>A	2	179396343	179396343	T	A	TTN	c.104999A>T	NM_001267550.2	NP_001254479.2:p.(Glu35000Val)	NC_000002.11:g.179396343T>A	VUS	1 lab	d3520207f5
9:35802292 NPR2 A>AGGAT	9	35802292	35802299	A	AGGAT	NPR2	c.1710+16_1710+19dup	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802296_35802299dup	(Likely) benign	1 lab	d352b83633
10:115423640 NRAP A>G	10	115423640	115423640	A	G	NRAP	c.2T>C	NM_001261463.2	NP_001248392.1:p.(Met1?)	NC_000010.10:g.115423640A>G	(Likely) pathogenic	1 lab	2bd1f26baf
4:119652613 SEC24D G>C	4	119652613	119652613	G	C	SEC24D	c.2726C>G	NM_014822.4	NP_055637.2:p.(Ser909Cys)	NC_000004.11:g.119652613G>C	VUS	1 lab	d3546c5de6
X:23018664 DDX53 G>A	X	23018664	23018664	G	A	DDX53	c.490G>A	NM_182699.4	NP_874358.2:p.(Glu164Lys)	NC_000023.10:g.23018664G>A	(Likely) benign	1 lab	d3550e39f6
7:151970859 KMT2C C>T	7	151970859	151970859	C	T	KMT2C	c.943G>A	NM_170606.3	NP_733751.2:p.(Gly315Ser)	NC_000007.13:g.151970859C>T	(Likely) benign	1 lab	d356319661
7:64852888 ZNF92 G>A	7	64852888	64852888	G	A	ZNF92	c.77G>A	NM_152626.4	NP_689839.1:p.(Arg26Gln)	NC_000007.13:g.64852888G>A	VUS	1 lab	d35822c130
2:149240672 MBD5 A>T	2	149240672	149240672	A	T	MBD5	c.2519-7A>T	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149240672A>T	(Likely) benign	1 lab	d358fbe2f7
X:119293216 RHOXF2 C>CG	X	119293216	119293222	C	CG	RHOXF2	c.381dup	NM_032498.3	NP_115887.1:p.(Leu128AlafsTer34)	NC_000023.10:g.119293222dup	VUS	1 lab	d359c7cde7
16:89256681 CDH15 G>A	16	89256681	89256681	G	A	CDH15	c.1009G>A	NM_004933.3	NP_004924.1:p.(Glu337Lys)	NC_000016.9:g.89256681G>A	VUS	1 lab	d35a2339ed
17:40481493 STAT3 G>C	17	40481493	40481493	G	C	STAT3	c.1234-18C>G	NM_139276.2	NP_644805.1:p.?	NC_000017.10:g.40481493G>C	(Likely) benign	1 lab	2dcce8a539
16:2165958 PKD1 GCCCACCA>G	16	2165958	2165983	GCCCACCA	G	PKD1	c.1849+28_1849+34del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2165977_2165983del	(Likely) benign	1 lab	d35bbde587
10:12139795 DHTKD1 C>T	10	12139795	12139795	C	T	DHTKD1	c.1471C>T	NM_018706.7	NP_061176.4:p.(His491Tyr)	NC_000010.10:g.12139795C>T	VUS	1 lab	d35c231197
18:72997855 TSHZ1 G>C	18	72997855	72997855	G	C	TSHZ1	c.493G>C	NM_001308210.2	NP_001295139.1:p.(Val165Leu)	NC_000018.9:g.72997855G>C	(Likely) benign	1 lab	d35d1a2d42
19:2438274 LMNB2 G>A	19	2438274	2438274	G	A	LMNB2	c.571C>T	NM_032737.4	NP_116126.3:p.(His191Tyr)	NC_000019.9:g.2438274G>A	VUS	1 lab	d35ef355d9
2:48033420 MSH6 C>A	2	48033420	48033420	C	A	MSH6	c.3724C>A	NM_000179.3	NP_000170.1:p.(Arg1242Ser)	NC_000002.11:g.48033420C>A	VUS	1 lab	d35f11a122
1:160000743 PIGM T>G	1	160000743	160000743	T	G	PIGM	c.787A>C	NM_145167.3	NP_660150.1:p.(Thr263Pro)	NC_000001.10:g.160000743T>G	VUS	1 lab	d35f26a068
12:2595327 CACNA1C C>T	12	2595327	2595327	C	T	CACNA1C	c.815C>T	NM_000719.7	NP_000710.5:p.(Ala272Val)	NC_000012.11:g.2595327C>T	VUS	1 lab	d36042d999
8:72127748 EYA1 G>A	8	72127748	72127748	G	A	EYA1	c.1476-5C>T	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72127748G>A	(Likely) benign	1 lab	d36042ee16
9:136405847 ADAMTSL2 C>T	9	136405847	136405847	C	T	ADAMTSL2	c.540C>T	NM_014694.4	NP_055509.2:p.(Cys180=)	NC_000009.11:g.136405847C>T	VUS	1 lab	d3631ed02a
19:1881355 ABHD17A T>C	19	1881355	1881355	T	C	ABHD17A	c.211A>G	NM_001130111.2	NP_001123583.1:p.(Thr71Ala)	NC_000019.9:g.1881355T>C	VUS	1 lab	d364c2340b
1:160322804 NCSTN C>G	1	160322804	160322804	C	G	NCSTN	c.1101+23C>G	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160322804C>G	(Likely) benign	1 lab	2dce7bcb48
1:43804375 MPL CT>C	1	43804375	43804378	CT	C	MPL	c.378del	NM_005373.3	NP_005364.1:p.(Phe126LeufsTer5)	NC_000001.10:g.43804378del	(Likely) pathogenic	1 lab	d36600417f
6:102247662 GRIK2 A>G	6	102247662	102247662	A	G	GRIK2	c.1091A>G	NM_021956.5	NP_068775.1:p.(Lys364Arg)	NC_000006.11:g.102247662A>G	VUS	1 lab	d367cbb2ed
17:73484834 TMEM94 C>T	17	73484834	73484834	C	T	TMEM94	c.613-6C>T	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73484834C>T	(Likely) benign	1 lab	d368ffffa4
X:44928992 KDM6A C>T	X	44928992	44928992	C	T	KDM6A	c.2248C>T	NM_001291415.2	NP_001278344.1:p.(His750Tyr)	NC_000023.10:g.44928992C>T	VUS	1 lab	d369caf921
18:10789106 PIEZO2 G>T	18	10789106	10789106	G	T	PIEZO2	c.2140C>A	NM_001378183.1	NP_001365112.1:p.(Leu714Met)	NC_000018.9:g.10789106G>T	VUS	1 lab	d369dbc8b2
6:80910645 BCKDHB A>T	6	80910645	80910645	A	T	BCKDHB	c.743-6A>T	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80910645A>T	(Likely) benign	1 lab	d36a3a9fa5
17:78293145 RNF213 G>A	17	78293145	78293145	G	A	RNF213	c.3024+33G>A	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78293145G>A	(Likely) benign	1 lab	d36c9af9d9
15:89867387 POLG C>T	15	89867387	89867387	C	T	POLG	c.2021G>A	NM_002693.3	NP_002684.1:p.(Gly674Asp)	NC_000015.9:g.89867387C>T	VUS	1 lab	d36d943ff2
19:18994896 GDF1 C>T	19	18994896	18994896	C	T	GDF1	c.-733G>A	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18994896C>T	VUS	1 lab	d36e9fe241
12:48373792 COL2A1 C>G	12	48373792	48373792	C	G	COL2A1	c.2679G>C	NM_001844.5	NP_001835.3:p.(Pro893=)	NC_000012.11:g.48373792C>G	VUS	1 lab	d36f10d25c
15:72292260 MYO9A C>T	15	72292260	72292260	C	T	MYO9A	c.1402G>A	NM_006901.4	NP_008832.2:p.(Glu468Lys)	NC_000015.9:g.72292260C>T	(Likely) benign	1 lab	d36f572a61
12:55794378 OR6C65 A>G	12	55794378	55794378	A	G	OR6C65	c.66A>G	NM_001005518.1	NP_001005518.1:p.(Gln22=)	NC_000012.11:g.55794378A>G	(Likely) benign	1 lab	d3703544b5
22:50898733 SBF1 G>A	22	50898733	50898733	G	A	SBF1	c.3251C>T	NM_002972.4	NP_002963.2:p.(Pro1084Leu)	NC_000022.10:g.50898733G>A	VUS	1 lab	d3717fd727
19:50919892 POLD1 G>A	19	50919892	50919892	G	A	POLD1	c.2979G>A	NM_002691.4	NP_002682.2:p.(Thr993=)	NC_000019.9:g.50919892G>A	VUS	1 lab	d3736fb951
8:145699767 FOXH1 G>A	8	145699767	145699767	G	A	FOXH1	c.952C>T	NM_003923.3	NP_003914.1:p.(Arg318Ter)	NC_000008.10:g.145699767G>A	VUS	1 lab	d373bf1ae9
1:35250556 GJB3 TACG>T	1	35250556	35250561	TACG	T	GJB3	c.196_198del	NM_024009.3	NP_076872.1:p.(Asp66del)	NC_000001.10:g.35250559_35250561del	VUS	1 lab	d373d3afee
5:79950227 DHFR G>C	5	79950227	79950227	G	C	DHFR	c.82C>G	NM_000791.4	NP_000782.1:p.(Leu28Val)	NC_000005.9:g.79950227G>C	(Likely) benign	1 lab	d3748d626b
22:19348846 HIRA C>A	22	19348846	19348846	C	A	HIRA	c.1999G>T	NM_003325.4	NP_003316.3:p.(Ala667Ser)	NC_000022.10:g.19348846C>A	VUS	1 lab	d37596e9b9
8:145002135 PLEC G>A	8	145002135	145002135	G	A	PLEC	c.3367C>T	NM_000445.5	NP_000436.2:p.(Arg1123Cys)	NC_000008.10:g.145002135G>A	VUS	1 lab	2bd5cbe9c6
17:35603872 ACACA T>C	17	35603872	35603872	T	C	ACACA	c.2330A>G	NM_198834.3	NP_942131.1:p.(Asn777Ser)	NC_000017.10:g.35603872T>C	VUS	1 lab	d37a160f06
11:71208522 NADSYN1 T>A	11	71208522	71208522	T	A	NADSYN1	c.1765-7T>A	NM_018161.5	NP_060631.2:p.?	NC_000011.9:g.71208522T>A	VUS	1 lab	d37a587472
7:47945556 PKD1L1 G>A	7	47945556	47945556	G	A	PKD1L1	c.1406C>T	NM_138295.5	NP_612152.1:p.(Thr469Ile)	NC_000007.13:g.47945556G>A	VUS	1 lab	d37e0f6e5b
19:42480633 ATP1A3 C>T	19	42480633	42480633	C	T	ATP1A3	c.2068G>A	NM_001256214.2	NP_001243143.1:p.(Glu690Lys)	NC_000019.9:g.42480633C>T	VUS	1 lab	2bd6b26803
17:40693147 NAGLU A>T	17	40693147	40693147	A	T	NAGLU	c.944A>T	NM_000263.4	NP_000254.2:p.(Asn315Ile)	NC_000017.10:g.40693147A>T	VUS	1 lab	d37f005605
3:126707645 PLXNA1 G>A	3	126707645	126707645	G	A	PLXNA1	c.209G>A	NM_032242.4	NP_115618.3:p.(Arg70His)	NC_000003.11:g.126707645G>A	(Likely) benign	1 lab	d3814d4396
20:32891042 AHCY G>A	20	32891042	32891042	G	A	AHCY	c.28+7C>T	NM_000687.4	NP_000678.1:p.?	NC_000020.10:g.32891042G>A	(Likely) benign	1 lab	d38265eef5
X:128886230 XPNPEP2 G>A	X	128886230	128886230	G	A	XPNPEP2	c.926G>A	NM_003399.6	NP_003390.4:p.(Arg309His)	NC_000023.10:g.128886230G>A	(Likely) benign	1 lab	d385825a92
6:85457669 TBX18 A>C	6	85457669	85457669	A	C	TBX18	c.908T>G	NM_001080508.3	NP_001073977.1:p.(Phe303Cys)	NC_000006.11:g.85457669A>C	VUS	1 lab	d388274ab6
17:79899052 MYADML2 C>T	17	79899052	79899052	C	T	MYADML2	c.566G>A	NM_001145113.3	NP_001138585.2:p.(Gly189Glu)	NC_000017.10:g.79899052C>T	(Likely) benign	1 lab	d3884dd5df
16:75269029 BCAR1 C>T	16	75269029	75269029	C	T	BCAR1	c.1906G>A	NM_001170714.3	NP_001164185.1:p.(Ala636Thr)	NC_000016.9:g.75269029C>T	(Likely) benign	1 lab	2dd0749af6
3:53781471 CACNA1D C>T	3	53781471	53781471	C	T	CACNA1D	c.3310C>T	NM_001128840.3	NP_001122312.1:p.(Pro1104Ser)	NC_000003.11:g.53781471C>T	VUS	1 lab	d389db8677
6:33148889 COL11A2 G>A	6	33148889	33148889	G	A	COL11A2	c.1178C>T	NM_080680.3	NP_542411.2:p.(Pro393Leu)	NC_000006.11:g.33148889G>A	VUS	1 lab	d38a62c065
15:31295119 TRPM1 A>C	15	31295119	31295119	A	C	TRPM1	c.3784T>G	NM_001252024.2	NP_001238953.1:p.(Ser1262Ala)	NC_000015.9:g.31295119A>C	(Likely) benign	1 lab	d38a69a383
16:23436148 COG7 G>A	16	23436148	23436148	G	A	COG7	c.931C>T	NM_153603.4	NP_705831.1:p.(Leu311Phe)	NC_000016.9:g.23436148G>A	VUS	1 lab	d38d158812
1:7189979 CAMTA1 T>TG	1	7189979	7189980	T	TG	CAMTA1	c.302+38548_302+38549insG	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7189979_7189980insG	(Likely) benign	1 lab	d38e45d52e
11:66299462 BBS1 G>T	11	66299462	66299462	G	T	BBS1	c.1736G>T	NM_024649.5	NP_078925.3:p.(Ser579Ile)	NC_000011.9:g.66299462G>T	VUS	1 lab	d38ed999b0
2:215609856 BARD1 G>T	2	215609856	215609856	G	T	BARD1	c.1838C>A	NM_000465.4	NP_000456.2:p.(Ala613Glu)	NC_000002.11:g.215609856G>T	VUS	1 lab	d38ef5693d
18:20573799 RBBP8 A>C	18	20573799	20573799	A	C	RBBP8	c.1928A>C	NM_002894.3	NP_002885.1:p.(Gln643Pro)	NC_000018.9:g.20573799A>C	(Likely) benign	1 lab	d38fb84298
2:179441044 TTN A>C	2	179441044	179441044	A	C	TTN	c.69815T>G	NM_001267550.2	NP_001254479.2:p.(Ile23272Ser)	NC_000002.11:g.179441044A>C	(Likely) benign	1 lab	d390ad2709
1:119467332 TBX15 C>T	1	119467332	119467332	C	T	TBX15	c.630G>A	NM_001330677.2	NP_001317606.1:p.(Met210Ile)	NC_000001.10:g.119467332C>T	VUS	1 lab	d390e017cd
1:67507914 SLC35D1 C>G	1	67507914	67507914	C	G	SLC35D1	c.729+5G>C	NM_015139.3	NP_055954.1:p.?	NC_000001.10:g.67507914C>G	(Likely) benign	1 lab	d39134201b
5:67588975 PIK3R1 T>C	5	67588975	67588975	T	C	PIK3R1	c.1066T>C	NM_181523.3	NP_852664.1:p.(Leu356=)	NC_000005.9:g.67588975T>C	VUS	1 lab	d39186f7ee
16:88714526 CYBA C>T	16	88714526	88714526	C	T	CYBA	c.59-4G>A	NM_000101.4	NP_000092.2:p.?	NC_000016.9:g.88714526C>T	(Likely) benign	1 lab	d392193c96
17:4806002 CHRNE A>G	17	4806002	4806002	A	G	CHRNE	c.103T>C	NM_000080.4	NP_000071.1:p.(Tyr35His)	NC_000017.10:g.4806002A>G	(Likely) pathogenic	1 lab	d3924dfc52
4:158074042 GLRB G>T	4	158074042	158074042	G	T	GLRB	c.1077G>T	NM_000824.5	NP_000815.1:p.(Arg359Ser)	NC_000004.11:g.158074042G>T	VUS	1 lab	d39275ba39
16:71149609 HYDIN G>A	16	71149609	71149609	G	A	HYDIN	c.1317C>T	NM_001270974.2	NP_001257903.1:p.(Cys439=)	NC_000016.9:g.71149609G>A	(Likely) benign	1 lab	d392efaacf
6:117250009 RFX6 G>C	6	117250009	117250009	G	C	RFX6	c.2486G>C	NM_173560.4	NP_775831.2:p.(Arg829Pro)	NC_000006.11:g.117250009G>C	VUS	1 lab	d393f67575
17:8380329 MYH10 C>T	17	8380329	8380329	C	T	MYH10	c.5744G>A	NM_001256012.3	NP_001242941.1:p.(Arg1915His)	NC_000017.10:g.8380329C>T	VUS	1 lab	d39548a6ca
2:37287837 HEATR5B A>G	2	37287837	37287837	A	G	HEATR5B	c.1736T>C	NM_019024.3	NP_061897.1:p.(Leu579Ser)	NC_000002.11:g.37287837A>G	VUS	1 lab	d39678e958
3:151073736 MED12L A>G	3	151073736	151073736	A	G	MED12L	c.2570A>G	NM_001393769.1	NP_001380698.1:p.(Tyr857Cys)	NC_000003.11:g.151073736A>G	(Likely) benign	1 lab	d397891346
2:10187893 KLF11 C>T	2	10187893	10187893	C	T	KLF11	c.429C>T	NM_003597.5	NP_003588.1:p.(Ala143=)	NC_000002.11:g.10187893C>T	(Likely) benign	1 lab	d3993fef1f
1:235909713 LYST C>G	1	235909713	235909713	C	G	LYST	c.7895G>C	NM_000081.4	NP_000072.2:p.(Ser2632Thr)	NC_000001.10:g.235909713C>G	VUS	1 lab	2bda1750f9
2:170387949 FASTKD1 T>C	2	170387949	170387949	T	C	FASTKD1	c.2240A>G	NM_024622.6	NP_078898.3:p.(His747Arg)	NC_000002.11:g.170387949T>C	(Likely) benign	1 lab	d39cff2ad0
12:125449517 DHX37 G>A	12	125449517	125449517	G	A	DHX37	c.1771C>T	NM_032656.4	NP_116045.2:p.(Leu591Phe)	NC_000012.11:g.125449517G>A	(Likely) pathogenic	1 lab	d39ea266e3
1:103427471 COL11A1 G>C	1	103427471	103427471	G	C	COL11A1	c.3119C>G	NM_001854.4	NP_001845.3:p.(Ala1040Gly)	NC_000001.10:g.103427471G>C	VUS	1 lab	d39eae56bb
9:14155853 NFIB T>C	9	14155853	14155853	T	C	NFIB	c.656A>G	NM_001190737.2	NP_001177666.1:p.(Asn219Ser)	NC_000009.11:g.14155853T>C	(Likely) benign	1 lab	d39ec2deab
15:102304189 MISSING C>A	15	102304189	102304189	C	A	MISSING				NC_000015.9:g.102304189C>A	(Likely) benign	1 lab	d39f5bd13d
1:63872785 ALG6 A>G	1	63872785	63872785	A	G	ALG6	c.482A>G	NM_013339.4	NP_037471.2:p.(Tyr161Cys)	NC_000001.10:g.63872785A>G	VUS	1 lab	d3a0aa6c31
13:32752343 FRY T>A	13	32752343	32752343	T	A	FRY	c.2451T>A	NM_023037.3	NP_075463.2:p.(Asp817Glu)	NC_000013.10:g.32752343T>A	VUS	1 lab	d3a2028329
9:140008443 DPP7 G>A	9	140008443	140008443	G	A	DPP7	c.359C>T	NM_013379.3	NP_037511.2:p.(Ser120Phe)	NC_000009.11:g.140008443G>A	(Likely) benign	1 lab	d3a21e4cbf
9:119413990 ASTN2 C>T	9	119413990	119413990	C	T	ASTN2	c.2889G>A	NM_001365068.1	NP_001351997.1:p.(Met963Ile)	NC_000009.11:g.119413990C>T	(Likely) benign	1 lab	d3a56f9ab5
7:151846197 KMT2C G>A	7	151846197	151846197	G	A	KMT2C	c.12815C>T	NM_170606.3	NP_733751.2:p.(Thr4272Met)	NC_000007.13:g.151846197G>A	(Likely) benign	1 lab	d3a57f030f
X:139586494 SOX3 TGCGGCC>T	X	139586494	139586505	TGCGGCC	T	SOX3	c.726_731del	NM_005634.3	NP_005625.2:p.(Ala247_Ala248del)	NC_000023.10:g.139586500_139586505del	(Likely) benign	1 lab	d3a725f23c
2:225365117 CUL3 G>T	2	225365117	225365117	G	T	CUL3	c.1573C>A	NM_003590.5	NP_003581.1:p.(Pro525Thr)	NC_000002.11:g.225365117G>T	(Likely) pathogenic	1 lab	d3a7ca31dc
17:4802803 CHRNE C>T	17	4802803	4802803	C	T	CHRNE	c.992G>A	NM_000080.4	NP_000071.1:p.(Arg331Gln)	NC_000017.10:g.4802803C>T	(Likely) pathogenic	1 lab	d3a7f5e701
5:37006472 NIPBL A>G	5	37006472	37006472	A	G	NIPBL	c.3869A>G	NM_133433.4	NP_597677.2:p.(Glu1290Gly)	NC_000005.9:g.37006472A>G	VUS	1 lab	d3aa130843
7:42012094 GLI3 G>A	7	42012094	42012094	G	A	GLI3	c.1945C>T	NM_000168.6	NP_000159.3:p.(Arg649Trp)	NC_000007.13:g.42012094G>A	(Likely) benign	1 lab	d3ab1d18ab
1:205156547 DSTYK T>C	1	205156547	205156547	T	C	DSTYK	c.653A>G	NM_015375.3	NP_056190.1:p.(Gln218Arg)	NC_000001.10:g.205156547T>C	(Likely) benign	1 lab	2dd75aad7a
8:42995721 HGSNAT T>C	8	42995721	42995721	T	C	HGSNAT	c.82T>C	NM_152419.3	NP_689632.2:p.(Ser28Pro)	NC_000008.10:g.42995721T>C	VUS	1 lab	d3adae78a2
12:21791410 LDHB TA>T	12	21791410	21791425	TA	T	LDHB	c.596-7del	NM_002300.8	NP_002291.1:p.?	NC_000012.11:g.21791425del	VUS	1 lab	d3add0c9e8
11:118968266 DPAGT1 G>T	11	118968266	118968266	G	T	DPAGT1	c.918-5C>A	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118968266G>T	VUS	1 lab	d3af1c167b
1:180165582 QSOX1 C>T	1	180165582	180165582	C	T	QSOX1	c.1654C>T	NM_002826.5	NP_002817.2:p.(Arg552Trp)	NC_000001.10:g.180165582C>T	(Likely) benign	1 lab	d3afc4ace7
1:1463133 ATAD3A C>T	1	1463133	1463133	C	T	ATAD3A	c.1396C>T	NM_001170535.3	NP_001164006.1:p.(Arg466Cys)	NC_000001.10:g.1463133C>T	VUS	1 lab	d3b0c4943b
2:27464836 CAD G>A	2	27464836	27464836	G	A	CAD	c.5941G>A	NM_004341.5	NP_004332.2:p.(Ala1981Thr)	NC_000002.11:g.27464836G>A	VUS	1 lab	d3b1aba6bb
X:140985461 MAGEC3 T>A	X	140985461	140985461	T	A	MAGEC3	c.1775T>A	NM_138702.1	NP_619647.1:p.(Leu592Gln)	NC_000023.10:g.140985461T>A	VUS	1 lab	d3b25313e4
1:1274771 DVL1 G>A	1	1274771	1274771	G	A	DVL1	c.1103C>T	NM_001330311.2	NP_001317240.1:p.(Ala368Val)	NC_000001.10:g.1274771G>A	(Likely) benign	1 lab	d3b25acf0c
20:6091013 FERMT1 C>CT	20	6091013	6091014	C	CT	FERMT1	c.677dup	NM_017671.5	NP_060141.3:p.(Ser227ValfsTer16)	NC_000020.10:g.6091014dup	(Likely) pathogenic	1 lab	2bdb6c4933
3:443359 CHL1 G>C	3	443359	443359	G	C	CHL1	c.3436G>C	NM_006614.4	NP_006605.2:p.(Asp1146His)	NC_000003.11:g.443359G>C	VUS	1 lab	d3b3a897b6
10:79397342 KCNMA1 C>T	10	79397342	79397342	C	T	KCNMA1	c.59G>A	NM_001161352.2	NP_001154824.1:p.(Gly20Asp)	NC_000010.10:g.79397342C>T	VUS	1 lab	d3b3deec5a
3:69845645 MITF CTTTTT>C	3	69845645	69845668	CTTTTT	C	MITF	c.104+56812_104+56816del	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.69845664_69845668del	(Likely) benign	1 lab	d3b4c1a3e5
4:85612850 WDFY3 C>A	4	85612850	85612850	C	A	WDFY3	c.9138G>T	NM_014991.6	NP_055806.2:p.(Trp3046Cys)	NC_000004.11:g.85612850C>A	VUS	1 lab	d3b4d36ce7
15:89390570 ACAN C>A	15	89390570	89390570	C	A	ACAN	c.1526C>A	NM_001369268.1	NP_001356197.1:p.(Ser509Ter)	NC_000015.9:g.89390570C>A	(Likely) pathogenic	1 lab	d3b4f5d10e
8:61765899 CHD7 G>C	8	61765899	61765899	G	C	CHD7	c.6615G>C	NM_017780.4	NP_060250.2:p.(Gln2205His)	NC_000008.10:g.61765899G>C	VUS	1 lab	d3b59bed90
10:50945827 OGDHL C>T	10	50945827	50945827	C	T	OGDHL	c.2590+5G>A	NM_018245.3	NP_060715.2:p.?	NC_000010.10:g.50945827C>T	VUS	1 lab	d3b64ee745
3:129305538 PLXND1 C>G	3	129305538	129305538	C	G	PLXND1	c.1513G>C	NM_015103.3	NP_055918.3:p.(Val505Leu)	NC_000003.11:g.129305538C>G	(Likely) benign	1 lab	d3b6c35d7f
2:166785800 TTC21B G>C	2	166785800	166785800	G	C	TTC21B	c.1231C>G	NM_024753.5	NP_079029.3:p.(Arg411Gly)	NC_000002.11:g.166785800G>C	VUS	1 lab	d3b75c2e16
17:48431901 XYLT2 C>T	17	48431901	48431901	C	T	XYLT2	c.761C>T	NM_022167.4	NP_071450.2:p.(Ala254Val)	NC_000017.10:g.48431901C>T	VUS	1 lab	d3b7e2667b
4:42487513 ATP8A1 C>T	4	42487513	42487513	C	T	ATP8A1	c.2324G>A	NM_006095.2	NP_006086.1:p.(Arg775Gln)	NC_000004.11:g.42487513C>T	VUS	1 lab	d3b89aa95b
15:89402310 ACAN C>T	15	89402310	89402310	C	T	ACAN	c.6494C>T	NM_001369268.1	NP_001356197.1:p.(Pro2165Leu)	NC_000015.9:g.89402310C>T	(Likely) benign	1 lab	d3bcd964ff
6:149656694 TAB2 G>A	6	149656694	149656694	G	A	TAB2	c.-331-1G>A	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149656694G>A	VUS	1 lab	2bdd3425ae
6:74325035 SLC17A5 T>C	6	74325035	74325035	T	C	SLC17A5	c.1111+3A>G	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74325035T>C	VUS	1 lab	d3be2a57d8
11:67267778 PITPNM1 A>G	11	67267778	67267778	A	G	PITPNM1	c.755T>C	NM_004910.3	NP_004901.2:p.(Leu252Pro)	NC_000011.9:g.67267778A>G	VUS	1 lab	d3be60f48a
12:48390390 COL2A1 C>A	12	48390390	48390390	C	A	COL2A1	c.550G>T	NM_001844.5	NP_001835.3:p.(Ala184Ser)	NC_000012.11:g.48390390C>A	VUS	1 lab	d3bedb8788
6:121638666 TBC1D32 G>A	6	121638666	121638666	G	A	TBC1D32	c.470C>T	NM_152730.6	NP_689943.4:p.(Ser157Phe)	NC_000006.11:g.121638666G>A	(Likely) benign	1 lab	d3bffbb2d6
16:88783607 PIEZO1 G>C	16	88783607	88783607	G	C	PIEZO1	c.6484C>G	NM_001142864.4	NP_001136336.2:p.(Pro2162Ala)	NC_000016.9:g.88783607G>C	(Likely) benign	1 lab	d3c0282f34
3:93619687 PROS1 C>T	3	93619687	93619687	C	T	PROS1	c.688G>A	NM_000313.4	NP_000304.2:p.(Glu230Lys)	NC_000003.11:g.93619687C>T	(Likely) benign	1 lab	d3c1b5c674
15:42652146 CAPN3 G>A	15	42652146	42652146	G	A	CAPN3	c.143G>A	NM_000070.3	NP_000061.1:p.(Ser48Asn)	NC_000015.9:g.42652146G>A	(Likely) benign	1 lab	d3c4dca718
4:72263332 SLC4A4 A>T	4	72263332	72263332	A	T	SLC4A4	c.769A>T	NM_001098484.3	NP_001091954.1:p.(Ser257Cys)	NC_000004.11:g.72263332A>T	VUS	1 lab	d3c5a25213
11:126310399 KIRREL3 C>T	11	126310399	126310399	C	T	KIRREL3	c.1298G>A	NM_032531.4	NP_115920.1:p.(Gly433Asp)	NC_000011.9:g.126310399C>T	VUS	1 lab	d3c69c3267
6:35208942 SCUBE3 G>C	6	35208942	35208942	G	C	SCUBE3	c.1094G>C	NM_152753.4	NP_689966.2:p.(Arg365Pro)	NC_000006.11:g.35208942G>C	VUS	1 lab	d3c6c89529
7:21857888 DNAH11 A>G	7	21857888	21857888	A	G	DNAH11	c.10622A>G	NM_001277115.2	NP_001264044.1:p.(Glu3541Gly)	NC_000007.13:g.21857888A>G	VUS	1 lab	d3c6f03175
7:138857710 IFT56 G>A	7	138857710	138857710	G	A	IFT56	c.1069+3612G>A	NM_024926.4	NP_079202.2:p.?	NC_000007.13:g.138857710G>A	(Likely) benign	1 lab	d3c7434673
2:202492872 TMEM237 C>A	2	202492872	202492872	C	A	TMEM237	c.870G>T	NM_001044385.3	NP_001037850.1:p.(Arg290Ser)	NC_000002.11:g.202492872C>A	VUS	1 lab	d3c7f3804c
12:2711101 CACNA1C G>A	12	2711101	2711101	G	A	CACNA1C	c.2935G>A	NM_000719.7	NP_000710.5:p.(Val979Met)	NC_000012.11:g.2711101G>A	VUS	1 lab	d3c846b65e
8:144886073 SCRIB C>T	8	144886073	144886073	C	T	SCRIB	c.3158G>A	NM_182706.5	NP_874365.3:p.(Arg1053Gln)	NC_000008.10:g.144886073C>T	VUS	1 lab	d3c86480c2
7:151934445 KMT2C C>T	7	151934445	151934445	C	T	KMT2C	c.2652+1347G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151934445C>T	(Likely) benign	1 lab	d3c91d1c0d
10:131636194 EBF3 C>T	10	131636194	131636194	C	T	EBF3	c.*13G>A	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131636194C>T	(Likely) benign	1 lab	d3c952374e
8:62626870 ASPH C>T	8	62626870	62626870	C	T	ASPH	c.61G>A	NM_004318.4	NP_004309.2:p.(Gly21Ser)	NC_000008.10:g.62626870C>T	(Likely) benign	1 lab	d3c9b8d9c9
14:79175576 NRXN3 A>G	14	79175576	79175576	A	G	NRXN3	c.1238A>G	NM_001330195.2	NP_001317124.1:p.(Asn413Ser)	NC_000014.8:g.79175576A>G	VUS	1 lab	d3c9bebfa8
14:105843181 PACS2 T>C	14	105843181	105843181	T	C	PACS2	c.878T>C	NM_001100913.3	NP_001094383.2:p.(Leu293Pro)	NC_000014.8:g.105843181T>C	(Likely) benign	1 lab	d3ca072c44
9:100850104 TRIM14 A>G	9	100850104	100850104	A	G	TRIM14	c.977T>C	NM_014788.4	NP_055603.2:p.(Val326Ala)	NC_000009.11:g.100850104A>G	VUS	1 lab	d3cb1fb8ed
15:99478542 IGF1R C>T	15	99478542	99478542	C	T	IGF1R	c.3187-3C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99478542C>T	(Likely) benign	1 lab	d3cc0c53da
7:40127710 CDK13 C>CT	7	40127710	40127721	C	CT	CDK13	c.3030-4dup	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40127721dup	(Likely) benign	1 lab	d3cc37f726
7:47921572 PKD1L1 A>C	7	47921572	47921572	A	C	PKD1L1	c.3377T>G	NM_138295.5	NP_612152.1:p.(Val1126Gly)	NC_000007.13:g.47921572A>C	(Likely) benign	1 lab	d3cc55f4b7
5:118183865 DTWD2 G>A	5	118183865	118183865	G	A	DTWD2	c.646C>T	NM_173666.4	NP_775937.1:p.(Pro216Ser)	NC_000005.9:g.118183865G>A	VUS	1 lab	d3ce698bcd
4:83277756 HNRNPD A>G	4	83277756	83277756	A	G	HNRNPD	c.934T>C	NM_031370.3	NP_112738.1:p.(Tyr312His)	NC_000004.11:g.83277756A>G	VUS	1 lab	d3ce92aafb
9:712498 KANK1 C>T	9	712498	712498	C	T	KANK1	c.1732C>T	NM_015158.5	NP_055973.2:p.(His578Tyr)	NC_000009.11:g.712498C>T	VUS	1 lab	d3d03d1d7b
11:69933882 ANO1 C>G	11	69933882	69933882	C	G	ANO1	c.133C>G	NM_018043.7	NP_060513.5:p.(Pro45Ala)	NC_000011.9:g.69933882C>G	VUS	1 lab	d3d25066b2
16:2161140 PKD1 G>A	16	2161140	2161140	G	A	PKD1	c.4028C>T	NM_001009944.3	NP_001009944.3:p.(Pro1343Leu)	NC_000016.9:g.2161140G>A	VUS	1 lab	d3d3d86e5a
6:30882994 VARS2 C>T	6	30882994	30882994	C	T	VARS2	c.263C>T	NM_020442.6	NP_065175.4:p.(Thr88Met)	NC_000006.11:g.30882994C>T	VUS	1 lab	d3d3dc0cb7
11:22296122 ANO5 T>G	11	22296122	22296122	T	G	ANO5	c.2243T>G	NM_213599.3	NP_998764.1:p.(Ile748Ser)	NC_000011.9:g.22296122T>G	VUS	1 lab	d3d4b320f8
4:190882003 FRG1 T>G	4	190882003	190882003	T	G	FRG1	c.629+9T>G	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190882003T>G	(Likely) benign	1 lab	2bde95c836
14:75515742 MLH3 T>C	14	75515742	75515742	T	C	MLH3	c.617A>G	NM_001040108.2	NP_001035197.1:p.(Asp206Gly)	NC_000014.8:g.75515742T>C	VUS	1 lab	d3d564804e
2:170062118 LRP2 T>C	2	170062118	170062118	T	C	LRP2	c.7586A>G	NM_004525.3	NP_004516.2:p.(His2529Arg)	NC_000002.11:g.170062118T>C	VUS	1 lab	d3d59d99ec
11:1093448 MUC2 C>A	11	1093448	1093448	C	A	MUC2	c.12206C>A	NM_002457.5	NP_002448.5:p.(Thr4069Asn)	NC_000011.9:g.1093448C>A	(Likely) benign	1 lab	d3d59feb5d
22:42610343 TCF20 GTGT>G	22	42610343	42610354	GTGT	G	TCF20	c.966_968del	NM_001378418.1	NP_001365347.1:p.(Gln322del)	NC_000022.10:g.42610352_42610354del	(Likely) benign	1 lab	d3d5bc0340
7:30642678 GARS1 G>C	7	30642678	30642678	G	C	GARS1	c.598G>C	NM_002047.4	NP_002038.2:p.(Asp200His)	NC_000007.13:g.30642678G>C	(Likely) pathogenic	1 lab	d3d60779c7
8:72184113 EYA1 G>C	8	72184113	72184113	G	C	EYA1	c.846C>G	NM_000503.6	NP_000494.2:p.(Ser282Arg)	NC_000008.10:g.72184113G>C	VUS	1 lab	d3d693f927
11:47364656 MYBPC3 T>TG	11	47364656	47364658	T	TG	MYBPC3	c.1266dup	NM_000256.3	NP_000247.2:p.(Ile423HisfsTer22)	NC_000011.9:g.47364658dup	(Likely) pathogenic	1 lab	2de54038e0
15:99500286 IGF1R G>A	15	99500286	99500286	G	A	IGF1R	c.3723-4G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99500286G>A	(Likely) benign	1 lab	d3d81b0076
15:63958227 HERC1 C>T	15	63958227	63958227	C	T	HERC1	c.8446G>A	NM_003922.4	NP_003913.3:p.(Ala2816Thr)	NC_000015.9:g.63958227C>T	(Likely) benign	1 lab	d3d87f29a4
14:23313596 MMP14 G>A	14	23313596	23313596	G	A	MMP14	c.1028G>A	NM_004995.4	NP_004986.1:p.(Arg343Gln)	NC_000014.8:g.23313596G>A	VUS	1 lab	d3d8ebdf24
1:75072554 ERICH3 G>A	1	75072554	75072554	G	A	ERICH3	c.1220C>T	NM_001002912.5	NP_001002912.4:p.(Pro407Leu)	NC_000001.10:g.75072554G>A	(Likely) benign	1 lab	d3da5e4a27
11:1271642 MUC5B G>T	11	1271642	1271642	G	T	MUC5B	c.13532G>T	NM_002458.3	NP_002449.2:p.(Arg4511Ile)	NC_000011.9:g.1271642G>T	(Likely) benign	1 lab	d3db20e8ad
8:145640746 SLC39A4 T>A	8	145640746	145640746	T	A	SLC39A4	c.532A>T	NM_130849.4	NP_570901.3:p.(Ser178Cys)	NC_000008.10:g.145640746T>A	VUS	1 lab	d3dbe78804
2:162279960 TBR1 G>A	2	162279960	162279960	G	A	TBR1	c.1271G>A	NM_006593.4	NP_006584.1:p.(Arg424His)	NC_000002.11:g.162279960G>A	VUS	1 lab	d3dcd32ca3
X:19392655 MAP3K15 C>T	X	19392655	19392655	C	T	MAP3K15	c.2713G>A	NM_001001671.4	NP_001001671.3:p.(Glu905Lys)	NC_000023.10:g.19392655C>T	(Likely) benign	1 lab	d3dcfc8c32
5:35955943 UGT3A1 C>CA	5	35955943	35955948	C	CA	UGT3A1	c.1098dup	NM_152404.4	NP_689617.3:p.(Val367CysfsTer116)	NC_000005.9:g.35955948dup	VUS	1 lab	d3e0bcc4fe
8:144904041 PUF60 C>T	8	144904041	144904041	C	T	PUF60	c.154G>A	NM_078480.3	NP_510965.1:p.(Ala52Thr)	NC_000008.10:g.144904041C>T	(Likely) benign	1 lab	d3e5291c08
1:202705423 KDM5B G>T	1	202705423	202705423	G	T	KDM5B	c.3182C>A	NM_006618.5	NP_006609.3:p.(Thr1061Asn)	NC_000001.10:g.202705423G>T	(Likely) benign	1 lab	d3e664ce75
15:42983455 STARD9 G>A	15	42983455	42983455	G	A	STARD9	c.9679G>A	NM_020759.3	NP_065810.2:p.(Ala3227Thr)	NC_000015.9:g.42983455G>A	(Likely) benign	1 lab	d3e98a8dfa
2:179427660 TTN A>T	2	179427660	179427660	A	T	TTN	c.75495T>A	NM_133378.4	NP_596869.4:p.(Ile25165=)	NC_000002.11:g.179427660A>T	(Likely) benign	1 lab	2be20ed64c
4:1803084 FGFR3 C>G	4	1803084	1803084	C	G	FGFR3	c.446-10C>G	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803084C>G	(Likely) benign	1 lab	d3eb3d4fd7
2:179914649 CCDC141 G>A	2	179914649	179914649	G	A	CCDC141	c.20C>T	NM_173648.4	NP_775919.3:p.(Pro7Leu)	NC_000002.11:g.179914649G>A	(Likely) benign	1 lab	d3eb51dcac
9:138709932 CAMSAP1 G>A	9	138709932	138709932	G	A	CAMSAP1	c.4169-7C>T	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138709932G>A	(Likely) benign	1 lab	d3ec89301d
14:59113584 DACT1 A>G	14	59113584	59113584	A	G	DACT1	c.2132A>G	NM_001079520.2	NP_001072988.1:p.(Asn711Ser)	NC_000014.8:g.59113584A>G	VUS	1 lab	d3ecbb6048
X:17394049 NHS C>T	X	17394049	17394049	C	T	NHS	c.169C>T	NM_001291867.2	NP_001278796.1:p.(Pro57Ser)	NC_000023.10:g.17394049C>T	VUS	1 lab	d3f05ec56f
11:111656807 ALG9 C>T	11	111656807	111656807	C	T	ALG9	c.*314G>A	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111656807C>T	(Likely) benign	1 lab	d3f0d3491c
17:40364038 STAT5B G>A	17	40364038	40364038	G	A	STAT5B	c.1644C>T	NM_012448.4	NP_036580.2:p.(Tyr548=)	NC_000017.10:g.40364038G>A	(Likely) benign	1 lab	d3f0eee4dd
13:25671030 PABPC3 G>C	13	25671030	25671030	G	C	PABPC3	c.694G>C	NM_030979.3	NP_112241.2:p.(Gly232Arg)	NC_000013.10:g.25671030G>C	(Likely) benign	1 lab	d3f26949ba
1:45798138 MUTYH T>C	1	45798138	45798138	T	C	MUTYH	c.629A>G	NM_001048174.2	NP_001041639.1:p.(Asn210Ser)	NC_000001.10:g.45798138T>C	(Likely) pathogenic	1 lab	d3f26bcb89
5:149441158 CSF1R C>T	5	149441158	149441158	C	T	CSF1R	c.1754G>A	NM_001288705.3	NP_001275634.1:p.(Gly585Asp)	NC_000005.9:g.149441158C>T	VUS	1 lab	d3f281c75f
15:96875761 NR2F2 G>A	15	96875761	96875761	G	A	NR2F2	c.427G>A	NM_021005.4	NP_066285.1:p.(Gly143Ser)	NC_000015.9:g.96875761G>A	VUS	1 lab	d3f47e20e1
2:99439249 CRACDL C>T	2	99439249	99439249	C	T	CRACDL	c.1487G>A	NM_207362.3	NP_997245.2:p.(Ser496Asn)	NC_000002.11:g.99439249C>T	VUS	1 lab	d3f4daa8ce
17:40364016 STAT5B A>T	17	40364016	40364016	A	T	STAT5B	c.1666T>A	NM_012448.4	NP_036580.2:p.(Ser556Thr)	NC_000017.10:g.40364016A>T	(Likely) benign	1 lab	d3f5015042
13:36229139 NBEA C>T	13	36229139	36229139	C	T	NBEA	c.8120C>T	NM_015678.5	NP_056493.3:p.(Thr2707Ile)	NC_000013.10:g.36229139C>T	VUS	1 lab	2be482dadc
5:58273020 PDE4D T>G	5	58273020	58273020	T	G	PDE4D	c.1705A>C	NM_001104631.2	NP_001098101.1:p.(Ile569Leu)	NC_000005.9:g.58273020T>G	VUS	1 lab	2be4dff9b3
3:46902231 MYL3 C>T	3	46902231	46902231	C	T	MYL3	c.242G>A	NM_000258.3	NP_000249.1:p.(Arg81Gln)	NC_000003.11:g.46902231C>T	(Likely) pathogenic	1 lab	d3f5c5237e
1:220267829 IARS2 C>T	1	220267829	220267829	C	T	IARS2	c.267+4C>T	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220267829C>T	VUS	1 lab	d3f68dadf5
6:4069356 FAM217A T>A	6	4069356	4069356	T	A	FAM217A	c.1101A>T	NM_173563.3	NP_775834.2:p.(Leu367Phe)	NC_000006.11:g.4069356T>A	(Likely) benign	1 lab	d3f7234c46
1:63902524 ALG6 C>G	1	63902524	63902524	C	G	ALG6	c.1357C>G	NM_013339.4	NP_037471.2:p.(Leu453Val)	NC_000001.10:g.63902524C>G	(Likely) benign	1 lab	d3f7f57874
4:6304134 WFS1 T>G	4	6304134	6304134	T	G	WFS1	c.2612T>G	NM_006005.3	NP_005996.2:p.(Val871Gly)	NC_000004.11:g.6304134T>G	(Likely) benign	1 lab	d3fbf189b4
2:241723025 KIF1A C>A	2	241723025	241723025	C	A	KIF1A	c.798+131G>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241723025C>A	(Likely) benign	1 lab	d3fcc5267e
2:198950402 PLCL1 C>G	2	198950402	198950402	C	G	PLCL1	c.2161C>G	NM_006226.4	NP_006217.3:p.(Leu721Val)	NC_000002.11:g.198950402C>G	VUS	1 lab	d3fd0e34dc
7:92732766 SAMD9 A>C	7	92732766	92732766	A	C	SAMD9	c.2645T>G	NM_017654.4	NP_060124.2:p.(Phe882Cys)	NC_000007.13:g.92732766A>C	VUS	1 lab	d3fd2fb0d3
1:6184677 CHD5 G>A	1	6184677	6184677	G	A	CHD5	c.4439C>T	NM_015557.3	NP_056372.1:p.(Ala1480Val)	NC_000001.10:g.6184677G>A	(Likely) benign	1 lab	d3ff169ad4
6:42231011 TRERF1 G>C	6	42231011	42231011	G	C	TRERF1	c.1884+47C>G	NM_001395490.1	NP_001382419.1:p.?	NC_000006.11:g.42231011G>C	(Likely) benign	1 lab	d3fffd8f5b
12:112750817 HECTD4 T>C	12	112750817	112750817	T	C	HECTD4	c.916+4A>G	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112750817T>C	(Likely) benign	1 lab	d400690b74
18:42531774 SETBP1 C>G	18	42531774	42531774	C	G	SETBP1	c.2469C>G	NM_015559.3	NP_056374.2:p.(His823Gln)	NC_000018.9:g.42531774C>G	VUS	1 lab	d400ad255d
17:7810988 CHD3 C>T	17	7810988	7810988	C	T	CHD3	c.4994C>T	NM_001005273.3	NP_001005273.1:p.(Pro1665Leu)	NC_000017.10:g.7810988C>T	VUS	1 lab	d400ec1f49
16:2564135 ATP6V0C G>A	16	2564135	2564135	G	A	ATP6V0C	c.31G>A	NM_001694.4	NP_001685.1:p.(Ala11Thr)	NC_000016.9:g.2564135G>A	VUS	1 lab	d40109da9d
X:49113977 FOXP3 G>A	X	49113977	49113977	G	A	FOXP3	c.361C>T	NM_014009.4	NP_054728.2:p.(His121Tyr)	NC_000023.10:g.49113977G>A	(Likely) benign	1 lab	d4017475ab
12:2681633 CACNA1C T>TCC	12	2681633	2681634	T	TCC	CACNA1C	c.1895+4673_1895+4674insCC	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2681633_2681634insCC	(Likely) benign	1 lab	d401e7254e
2:152423709 NEB T>G	2	152423709	152423709	T	G	NEB	c.18129A>C	NM_001164508.2	NP_001157980.2:p.(Ala6043=)	NC_000002.11:g.152423709T>G	(Likely) benign	1 lab	d4062dd622
19:46257881 MEIOSIN C>T	19	46257881	46257881	C	T	MEIOSIN	c.701C>T	NM_001310124.2	NP_001297053.1:p.(Pro234Leu)	NC_000019.9:g.46257881C>T	VUS	1 lab	d406c8ecf7
16:89986163 MC1R C>G	16	89986163	89986163	C	G	MC1R	c.497C>G	NM_002386.4	NP_002377.4:p.(Ala166Gly)	NC_000016.9:g.89986163C>G	(Likely) benign	1 lab	d407c85075
17:62022752 SCN4A C>T	17	62022752	62022752	C	T	SCN4A	c.3688G>A	NM_000334.4	NP_000325.4:p.(Val1230Met)	NC_000017.10:g.62022752C>T	VUS	1 lab	d407f6ffb9
3:108095355 HHLA2 C>T	3	108095355	108095355	C	T	HHLA2	c.1175C>T	NM_001282556.2	NP_001269485.1:p.(Pro392Leu)	NC_000003.11:g.108095355C>T	VUS	1 lab	d4090d45a4
X:110970111 ALG13 A>G	X	110970111	110970111	A	G	ALG13	c.1804A>G	NM_001099922.3	NP_001093392.1:p.(Met602Val)	NC_000023.10:g.110970111A>G	VUS	1 lab	d40a5a285a
5:177421270 PROP1 C>T	5	177421270	177421270	C	T	PROP1	c.179G>A	NM_006261.5	NP_006252.4:p.(Gly60Glu)	NC_000005.9:g.177421270C>T	VUS	1 lab	d40aea97c0
12:6647054 GAPDH C>G	12	6647054	6647054	C	G	GAPDH	c.830C>G	NM_002046.7	NP_002037.2:p.(Thr277Ser)	NC_000012.11:g.6647054C>G	VUS	1 lab	d40d842124
12:57574261 LRP1 G>A	12	57574261	57574261	G	A	LRP1	c.5385G>A	NM_002332.3	NP_002323.2:p.(Met1795Ile)	NC_000012.11:g.57574261G>A	VUS	1 lab	d40e31525d
15:99500557 IGF1R C>G	15	99500557	99500557	C	G	IGF1R	c.3990C>G	NM_000875.5	NP_000866.1:p.(Gly1330=)	NC_000015.9:g.99500557C>G	(Likely) benign	1 lab	d410cace0e
8:100205189 VPS13B C>G	8	100205189	100205189	C	G	VPS13B	c.2419C>G	NM_152564.5	NP_689777.3:p.(Leu807Val)	NC_000008.10:g.100205189C>G	(Likely) benign	1 lab	d412717523
6:33411295 SYNGAP1 C>G	6	33411295	33411295	C	G	SYNGAP1	c.2966C>G	NM_006772.3	NP_006763.2:p.(Ser989Cys)	NC_000006.11:g.33411295C>G	VUS	1 lab	2be73bd90a
2:136873204 CXCR4 G>A	2	136873204	136873204	G	A	CXCR4	c.306C>T	NM_001008540.2	NP_001008540.1:p.(Ala102=)	NC_000002.11:g.136873204G>A	(Likely) benign	1 lab	2dea59f18e
1:17355138 SDHB A>G	1	17355138	17355138	A	G	SDHB	c.380T>C	NM_003000.3	NP_002991.2:p.(Ile127Thr)	NC_000001.10:g.17355138A>G	VUS	1 lab	d412bbb4dd
2:220497106 SLC4A3 C>T	2	220497106	220497106	C	T	SLC4A3	c.1083C>T	NM_005070.4	NP_005061.3:p.(Pro361=)	NC_000002.11:g.220497106C>T	(Likely) benign	1 lab	d4132ce40b
2:168103244 XIRP2 T>C	2	168103244	168103244	T	C	XIRP2	c.5342T>C	NM_152381.6	NP_689594.4:p.(Ile1781Thr)	NC_000002.11:g.168103244T>C	VUS	1 lab	d415204f93
7:98574659 TRRAP C>T	7	98574659	98574659	C	T	TRRAP	c.8270C>T	NM_003496.4	NP_003487.1:p.(Ala2757Val)	NC_000007.13:g.98574659C>T	(Likely) benign	1 lab	2bea693211
19:41858892 TGFB1 C>G	19	41858892	41858892	C	G	TGFB1	c.58G>C	NM_000660.7	NP_000651.3:p.(Val20Leu)	NC_000019.9:g.41858892C>G	(Likely) benign	1 lab	d41528ef4c
19:52448100 ZNF613 G>A	19	52448100	52448100	G	A	ZNF613	c.964G>A	NM_001031721.4	NP_001026891.2:p.(Gly322Arg)	NC_000019.9:g.52448100G>A	(Likely) benign	1 lab	d415a91ac3
18:46623794 DYM G>A	18	46623794	46623794	G	A	DYM	c.2003C>T	NM_001353214.3	NP_001340143.1:p.(Ala668Val)	NC_000018.9:g.46623794G>A	VUS	1 lab	d415ac39ed
3:53752419 CACNA1D A>C	3	53752419	53752419	A	C	CACNA1D	c.1478+4A>C	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53752419A>C	VUS	1 lab	d4162e408e
4:152049426 SH3D19 C>G	4	152049426	152049426	C	G	SH3D19	c.2825G>C	NM_001378122.1	NP_001365051.1:p.(Gly942Ala)	NC_000004.11:g.152049426C>G	(Likely) benign	1 lab	d41638b9f3
19:36398170 TYROBP G>A	19	36398170	36398170	G	A	TYROBP	c.230-4C>T	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36398170G>A	(Likely) benign	1 lab	d417d32f3b
18:10698995 PIEZO2 G>A	18	10698995	10698995	G	A	PIEZO2	c.6622C>T	NM_001378183.1	NP_001365112.1:p.(Arg2208Trp)	NC_000018.9:g.10698995G>A	VUS	1 lab	d4185e5308
10:64950745 JMJD1C C>T	10	64950745	64950745	C	T	JMJD1C	c.6200G>A	NM_032776.3	NP_116165.1:p.(Arg2067Gln)	NC_000010.10:g.64950745C>T	VUS	1 lab	d41aee1e8f
6:170873706 TBP G>C	6	170873706	170873706	G	C	TBP	c.571G>C	NM_003194.5	NP_003185.1:p.(Glu191Gln)	NC_000006.11:g.170873706G>C	VUS	1 lab	d41c84e636
19:15349971 BRD4 G>A	19	15349971	15349971	G	A	BRD4	c.3681C>T	NM_001379291.1	NP_001366220.1:p.(Phe1227=)	NC_000019.9:g.15349971G>A	(Likely) benign	1 lab	d41d254566
17:39911977 JUP C>G	17	39911977	39911977	C	G	JUP	c.*19G>C	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39911977C>G	VUS	1 lab	d41d985cfa
8:144992395 PLEC C>T	8	144992395	144992395	C	T	PLEC	c.11594G>A	NM_201384.3	NP_958786.1:p.(Arg3865His)	NC_000008.10:g.144992395C>T	(Likely) benign	1 lab	d41f9bb503
9:94871032 SPTLC1 T>C	9	94871032	94871032	T	C	SPTLC1	c.250A>G	NM_006415.4	NP_006406.1:p.(Ile84Val)	NC_000009.11:g.94871032T>C	VUS	1 lab	d421345baa
5:132270480 AFF4 T>G	5	132270480	132270480	T	G	AFF4	c.277A>C	NM_014423.4	NP_055238.1:p.(Asn93His)	NC_000005.9:g.132270480T>G	(Likely) benign	1 lab	d4238556cc
12:31577498 DENND5B T>C	12	31577498	31577498	T	C	DENND5B	c.2362A>G	NM_144973.4	NP_659410.3:p.(Ile788Val)	NC_000012.11:g.31577498T>C	(Likely) benign	1 lab	d4238627da
7:100281264 GIGYF1 G>A	7	100281264	100281264	G	A	GIGYF1	c.1970-9C>T	NM_001375765.1	NP_001362694.1:p.?	NC_000007.13:g.100281264G>A	(Likely) benign	1 lab	d4243600ad
11:65108551 DPF2 C>T	11	65108551	65108551	C	T	DPF2	c.301+7C>T	NM_006268.5	NP_006259.1:p.?	NC_000011.9:g.65108551C>T	VUS	1 lab	d424abb157
X:67938122 STARD8 G>C	X	67938122	67938122	G	C	STARD8	c.1366G>C	NM_001142503.3	NP_001135975.1:p.(Ala456Pro)	NC_000023.10:g.67938122G>C	(Likely) benign	1 lab	d426881e02
15:99500632 IGF1R C>T	15	99500632	99500632	C	T	IGF1R	c.4065C>T	NM_000875.5	NP_000866.1:p.(Asn1355=)	NC_000015.9:g.99500632C>T	(Likely) benign	1 lab	d428952fca
8:70550806 SULF1 C>T	8	70550806	70550806	C	T	SULF1	c.2354C>T	NM_001128205.2	NP_001121677.1:p.(Thr785Met)	NC_000008.10:g.70550806C>T	(Likely) benign	1 lab	d429d8b5f2
1:158647729 SPTA1 A>G	1	158647729	158647729	A	G	SPTA1	c.813-105T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158647729A>G	(Likely) benign	1 lab	2df061ccda
7:150696067 NOS3 G>A	7	150696067	150696067	G	A	NOS3	c.850G>A	NM_000603.5	NP_000594.2:p.(Gly284Ser)	NC_000007.13:g.150696067G>A	(Likely) benign	1 lab	d42cf8ca63
15:93472081 CHD2 T>C	15	93472081	93472081	T	C	CHD2	c.382-179T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93472081T>C	(Likely) benign	1 lab	2df226e3de
8:2056576 MYOM2 G>C	8	2056576	2056576	G	C	MYOM2	c.2999-1G>C	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2056576G>C	VUS	1 lab	2beba41b66
19:42752745 ERF C>T	19	42752745	42752745	C	T	ERF	c.1519G>A	NM_006494.4	NP_006485.2:p.(Glu507Lys)	NC_000019.9:g.42752745C>T	(Likely) benign	1 lab	d42e8e7f4c
14:93708975 BTBD7 C>T	14	93708975	93708975	C	T	BTBD7	c.3043G>A	NM_001002860.4	NP_001002860.2:p.(Gly1015Arg)	NC_000014.8:g.93708975C>T	VUS	1 lab	d42ed1a51b
2:219922261 IHH G>T	2	219922261	219922261	G	T	IHH	c.471C>A	NM_002181.4	NP_002172.2:p.(Asp157Glu)	NC_000002.11:g.219922261G>T	VUS	1 lab	d43018c376
2:179453905 TTN C>T	2	179453905	179453905	C	T	TTN	c.62547G>A	NM_001267550.2	NP_001254479.2:p.(Thr20849=)	NC_000002.11:g.179453905C>T	(Likely) benign	1 lab	d4303c6094
15:33603273 RYR3 G>C	15	33603273	33603273	G	C	RYR3	c.27G>C	NM_001036.6	NP_001027.3:p.(Glu9Asp)	NC_000015.9:g.33603273G>C	VUS	1 lab	d4314f02e0
13:111357867 CARS2 C>T	13	111357867	111357867	C	T	CARS2	c.275+1G>A	NM_024537.4	NP_078813.1:p.?	NC_000013.10:g.111357867C>T	VUS	1 lab	d431dbce5c
4:159590841 C4orf46 G>GT	4	159590841	159590842	G	GT	C4orf46	c.265dup	NM_001008393.4	NP_001008394.1:p.(Thr89AsnfsTer8)	NC_000004.11:g.159590842dup	VUS	1 lab	d4321ef3b9
1:61869949 NFIA C>T	1	61869949	61869949	C	T	NFIA	c.1249C>T	NM_005595.5	NP_005586.1:p.(Leu417Phe)	NC_000001.10:g.61869949C>T	VUS	1 lab	2bed1b43e3
1:151748579 TDRKH C>A	1	151748579	151748579	C	A	TDRKH	c.1210G>T	NM_001083965.2	NP_001077434.1:p.(Ala404Ser)	NC_000001.10:g.151748579C>A	VUS	1 lab	d43356e26c
12:49446736 KMT2D G>C	12	49446736	49446736	G	C	KMT2D	c.1074C>G	NM_003482.4	NP_003473.3:p.(Ile358Met)	NC_000012.11:g.49446736G>C	(Likely) benign	1 lab	d434afc911
X:100240700 ARL13A ACAC>A	X	100240700	100240703	ACAC	A	ARL13A	c.176_178del	NM_001162491.2	NP_001155963.1:p.(Thr59_Leu60delinsIle)	NC_000023.10:g.100240701_100240703del	VUS	1 lab	d435b6a09b
11:61099042 DDB1 A>C	11	61099042	61099042	A	C	DDB1	c.183T>G	NM_001923.5	NP_001914.3:p.(Ile61Met)	NC_000011.9:g.61099042A>C	VUS	1 lab	d436d92793
3:38316166 SLC22A13 T>C	3	38316166	38316166	T	C	SLC22A13	c.554T>C	NM_004256.4	NP_004247.2:p.(Val185Ala)	NC_000003.11:g.38316166T>C	(Likely) benign	1 lab	d43700cbfa
17:48677117 CACNA1G A>G	17	48677117	48677117	A	G	CACNA1G	c.3587A>G	NM_018896.5	NP_061496.2:p.(His1196Arg)	NC_000017.10:g.48677117A>G	(Likely) benign	1 lab	d43b7effc2
19:46274916 DMPK G>A	19	46274916	46274916	G	A	DMPK	c.1510C>T	NM_004409.5	NP_004400.4:p.(Arg504Cys)	NC_000019.9:g.46274916G>A	(Likely) benign	1 lab	d43c32bc5b
2:113496554 NT5DC4 C>T	2	113496554	113496554	C	T	NT5DC4	c.*41C>T	NM_001393655.1	NP_001380584.1:p.?	NC_000002.11:g.113496554C>T	(Likely) benign	1 lab	d43f979b94
12:46233116 ARID2 G>A	12	46233116	46233116	G	A	ARID2	c.1335G>A	NM_152641.4	NP_689854.2:p.(Met445Ile)	NC_000012.11:g.46233116G>A	(Likely) benign	1 lab	d441236aa6
22:36689917 MYH9 G>A	22	36689917	36689917	G	A	MYH9	c.3838-8C>T	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36689917G>A	(Likely) benign	1 lab	d441bfe70a
17:56402175 TSPOAP1 T>A	17	56402175	56402175	T	A	TSPOAP1	c.939A>T	NM_004758.4	NP_004749.2:p.(Gly313=)	NC_000017.10:g.56402175T>A	VUS	1 lab	d441cf42f0
14:105677637 BRF1 C>A	14	105677637	105677637	C	A	BRF1	c.1825-7G>T	NM_001519.4	NP_001510.2:p.?	NC_000014.8:g.105677637C>A	(Likely) benign	1 lab	d441d19ddb
14:91779638 CCDC88C G>A	14	91779638	91779638	G	A	CCDC88C	c.2522C>T	NM_001080414.4	NP_001073883.2:p.(Ala841Val)	NC_000014.8:g.91779638G>A	(Likely) benign	1 lab	d442d9bc0c
17:6328860 AIPL1 A>G	17	6328860	6328860	A	G	AIPL1	c.1075T>C	NM_014336.5	NP_055151.3:p.(Ser359Pro)	NC_000017.10:g.6328860A>G	VUS	1 lab	d44609e182
12:52867179 KRT6C C>G	12	52867179	52867179	C	G	KRT6C	c.343G>C	NM_173086.5	NP_775109.2:p.(Gly115Arg)	NC_000012.11:g.52867179C>G	VUS	1 lab	d447b9e7d9
20:62038287 KCNQ2 G>A	20	62038287	62038287	G	A	KCNQ2	c.2329C>T	NM_172107.4	NP_742105.1:p.(Pro777Ser)	NC_000020.10:g.62038287G>A	VUS	1 lab	d4490eab39
6:69348773 ADGRB3 T>C	6	69348773	69348773	T	C	ADGRB3	c.206T>C	NM_001704.3	NP_001695.2:p.(Ile69Thr)	NC_000006.11:g.69348773T>C	VUS	1 lab	d4c49c56d3
17:73897344 MRPL38 G>A	17	73897344	73897344	G	A	MRPL38	c.602C>T	NM_032478.4	NP_115867.2:p.(Ala201Val)	NC_000017.10:g.73897344G>A	(Likely) benign	1 lab	d449522ef6
2:178097304 NFE2L2 G>A	2	178097304	178097304	G	A	NFE2L2	c.410C>T	NM_006164.5	NP_006155.2:p.(Ser137Leu)	NC_000002.11:g.178097304G>A	(Likely) benign	1 lab	d449670c4d
1:156097706 LMNA G>A	1	156097706	156097706	G	A	LMNA	c.357-2702G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156097706G>A	VUS	1 lab	d44abe6cd2
1:108686340 SLC25A24 T>TA	1	108686340	108686349	T	TA	SLC25A24	c.931-9dup	NM_013386.5	NP_037518.3:p.?	NC_000001.10:g.108686349dup	(Likely) benign	1 lab	d44b2c7bc0
13:61103254 TDRD3 A>T	13	61103254	61103254	A	T	TDRD3	c.1895A>T	NM_001146070.2	NP_001139542.1:p.(Lys632Met)	NC_000013.10:g.61103254A>T	VUS	1 lab	d44c1284a6
2:220108217 GLB1L A>G	2	220108217	220108217	A	G	GLB1L	c.72+7T>C	NM_001286423.2	NP_001273352.1:p.?	NC_000002.11:g.220108217A>G	(Likely) benign	1 lab	d44c495c21
21:47628161 LSS A>G	21	47628161	47628161	A	G	LSS	c.1317+4T>C	NM_002340.6	NP_002331.3:p.?	NC_000021.8:g.47628161A>G	(Likely) benign	1 lab	d44de5017d
19:55644325 TNNT1 A>C	19	55644325	55644325	A	C	TNNT1	c.795=	NM_003283.6	NP_003274.3:p.(Arg265=)	NC_000019.9:g.55644325A>C	(Likely) benign	1 lab	2bed38bfa2
6:167754419 TTLL2 A>C	6	167754419	167754419	A	C	TTLL2	c.1031A>C	NM_031949.5	NP_114155.4:p.(Lys344Thr)	NC_000006.11:g.167754419A>C	(Likely) benign	1 lab	d44fed7c99
11:17426136 ABCC8 T>C	11	17426136	17426136	T	C	ABCC8	c.3480A>G	NM_000352.6	NP_000343.2:p.(Thr1160=)	NC_000011.9:g.17426136T>C	(Likely) benign	1 lab	d453c30d8e
6:56368877 DST T>G	6	56368877	56368877	T	G	DST	c.19484A>C	NM_001374736.1	NP_001361665.1:p.(Asp6495Ala)	NC_000006.11:g.56368877T>G	VUS	1 lab	d4570b5844
10:112343618 SMC3 G>A	10	112343618	112343618	G	A	SMC3	c.989G>A	NM_005445.4	NP_005436.1:p.(Arg330Lys)	NC_000010.10:g.112343618G>A	VUS	1 lab	d457a0f856
12:56489594 ERBB3 A>G	12	56489594	56489594	A	G	ERBB3	c.2055+4A>G	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56489594A>G	VUS	1 lab	d458673fc8
X:50376807 SHROOM4 C>T	X	50376807	50376807	C	T	SHROOM4	c.2266G>A	NM_020717.5	NP_065768.2:p.(Ala756Thr)	NC_000023.10:g.50376807C>T	(Likely) benign	1 lab	d45aa96eeb
19:15272121 NOTCH3 G>A	19	15272121	15272121	G	A	NOTCH3	c.6318C>T	NM_000435.3	NP_000426.2:p.(Asp2106=)	NC_000019.9:g.15272121G>A	(Likely) benign	1 lab	d45abff40e
7:44189579 GCK T>TGATA	7	44189579	44189584	T	TGATA	GCK	c.564_567dup	NM_000162.5	NP_000153.1:p.(Lys190TyrfsTer8)	NC_000007.13:g.44189581_44189584dup	(Likely) pathogenic	1 lab	d45b3eb74f
X:109445715 AMMECR1 T>A	X	109445715	109445715	T	A	AMMECR1	c.749A>T	NM_015365.3	NP_056180.1:p.(Lys250Ile)	NC_000023.10:g.109445715T>A	VUS	1 lab	d45dea191f
1:162730994 DDR2 C>T	1	162730994	162730994	C	T	DDR2	c.856-7C>T	NM_006182.4	NP_006173.2:p.?	NC_000001.10:g.162730994C>T	(Likely) benign	1 lab	d45e286521
4:5564591 EVC2 G>A	4	5564591	5564591	G	A	EVC2	c.3911C>T	NM_147127.5	NP_667338.3:p.(Ala1304Val)	NC_000004.11:g.5564591G>A	(Likely) benign	1 lab	d45ed89bc8
5:36986083 NIPBL A>C	5	36986083	36986083	A	C	NIPBL	c.2801A>C	NM_133433.4	NP_597677.2:p.(His934Pro)	NC_000005.9:g.36986083A>C	VUS	1 lab	d462d7695e
17:7577090 TP53 C>T	17	7577090	7577090	C	T	TP53	c.848G>A	NM_000546.6	NP_000537.3:p.(Arg283His)	NC_000017.10:g.7577090C>T	VUS	1 lab	d464e2c0f7
10:76781764 KAT6B G>A	10	76781764	76781764	G	A	KAT6B	c.3147G>A	NM_012330.4	NP_036462.2:p.(Pro1049=)	NC_000010.10:g.76781764G>A	(Likely) pathogenic	1 lab	2bee0526af
5:35873568 IL7R A>C	5	35873568	35873568	A	C	IL7R				NC_000005.9:g.35873568A>C	(Likely) benign	1 lab	2df62935e6
11:40137800 LRRC4C C>T	11	40137800	40137800	C	T	LRRC4C	c.43G>A	NM_001258419.2	NP_001245348.1:p.(Gly15Ser)	NC_000011.9:g.40137800C>T	(Likely) benign	1 lab	d46612a575
9:140128123 SLC34A3 C>T	9	140128123	140128123	C	T	SLC34A3	c.795C>T	NM_001177316.2	NP_001170787.2:p.(Asn265=)	NC_000009.11:g.140128123C>T	VUS	1 lab	d46672fb27
1:155449320 ASH1L G>T	1	155449320	155449320	G	T	ASH1L	c.3341C>A	NM_018489.3	NP_060959.2:p.(Thr1114Asn)	NC_000001.10:g.155449320G>T	VUS	1 lab	d47b5a6e5a
15:40648332 PHGR1 G>GCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA	15	40648332	40648371	G	GCCATGGCCCAGGGCCCTGCGGGCCACCCCCCCA	PHGR1	c.84_116dup	NM_001145643.2	NP_001139115.1:p.(His37_Pro47dup)	NC_000015.9:g.40648339_40648371dup	VUS	1 lab	d466883332
14:68045308 PLEKHH1 T>C	14	68045308	68045308	T	C	PLEKHH1	c.2809T>C	NM_020715.3	NP_065766.1:p.(Trp937Arg)	NC_000014.8:g.68045308T>C	VUS	1 lab	d46ad2fa56
10:43615063 RET A>G	10	43615063	43615063	A	G	RET	c.2477A>G	NM_020975.6	NP_066124.1:p.(Tyr826Cys)	NC_000010.10:g.43615063A>G	VUS	1 lab	2bf2bc9648
11:62886707 SLC22A24 G>T	11	62886707	62886707	G	T	SLC22A24	c.607C>A	NM_001136506.2	NP_001129978.2:p.(Arg203Ser)	NC_000011.9:g.62886707G>T	VUS	1 lab	d46e9bead4
13:43148611 TNFSF11 G>T	13	43148611	43148611	G	T	TNFSF11	c.172G>T	NM_003701.4	NP_003692.1:p.(Gly58Cys)	NC_000013.10:g.43148611G>T	VUS	1 lab	d471f62323
21:34922927 SON G>A	21	34922927	34922927	G	A	SON	c.1390G>A	NM_138927.4	NP_620305.3:p.(Glu464Lys)	NC_000021.8:g.34922927G>A	(Likely) benign	1 lab	d4728df482
18:55315925 ATP8B1 C>T	18	55315925	55315925	C	T	ATP8B1	c.3551G>A	NM_001374385.1	NP_001361314.1:p.(Arg1184Gln)	NC_000018.9:g.55315925C>T	(Likely) benign	1 lab	d473a97d66
1:152284853 FLG C>T	1	152284853	152284853	C	T	FLG	c.2509G>A	NM_002016.2	NP_002007.1:p.(Gly837Ser)	NC_000001.10:g.152284853C>T	(Likely) benign	1 lab	d4749a970c
16:88722689 MVD C>T	16	88722689	88722689	C	T	MVD	c.427G>A	NM_002461.3	NP_002452.1:p.(Gly143Ser)	NC_000016.9:g.88722689C>T	VUS	1 lab	d4769d6884
1:154571071 ADAR A>C	1	154571071	154571071	A	C	ADAR	c.1602-10T>G	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154571071A>C	(Likely) benign	1 lab	d476d61a03
19:1466137 APC2 C>A	19	1466137	1466137	C	A	APC2	c.2837C>A	NM_005883.3	NP_005874.1:p.(Pro946Gln)	NC_000019.9:g.1466137C>A	(Likely) benign	1 lab	d4779e5b1b
11:539572 LRRC56 A>T	11	539572	539572	A	T	LRRC56	c.-158-8A>T	NM_198075.4	NP_932341.1:p.?	NC_000011.9:g.539572A>T	(Likely) benign	1 lab	d477cf73b4
7:150768608 SLC4A2 G>A	7	150768608	150768608	G	A	SLC4A2	c.2107G>A	NM_003040.4	NP_003031.3:p.(Ala703Thr)	NC_000007.13:g.150768608G>A	VUS	1 lab	d47a6d7efb
13:39266540 FREM2 GA>TC	13	39266540	39266541	GA	TC	FREM2	c.5059_5060inv	NM_207361.6	NP_997244.4:p.(Glu1687Ser)	NC_000013.10:g.39266540_39266541inv	VUS	1 lab	d47b123d4d
15:63961822 HERC1 T>C	15	63961822	63961822	T	C	HERC1	c.8121A>G	NM_003922.4	NP_003913.3:p.(Leu2707=)	NC_000015.9:g.63961822T>C	(Likely) benign	1 lab	d47b3c0f8d
15:44921569 SPG11 G>GT	15	44921569	44921570	G	GT	SPG11	c.1752dup	NM_025137.4	NP_079413.3:p.(Pro585ThrfsTer11)	NC_000015.9:g.44921570dup	(Likely) pathogenic	1 lab	338049bcd7
3:184008959 ECE2 G>A	3	184008959	184008959	G	A	ECE2	c.1966G>A	NM_001100121.2	NP_001093591.1:p.(Gly656Ser)	NC_000003.11:g.184008959G>A	(Likely) benign	1 lab	d47bf1aff3
15:45706887 AFG2B T>G	15	45706887	45706887	T	G	AFG2B	c.1553T>G	NM_024063.3	NP_076968.2:p.(Leu518Arg)	NC_000015.9:g.45706887T>G	VUS	1 lab	d47c4d0c25
8:145006993 PLEC G>A	8	145006993	145006993	G	A	PLEC	c.1705C>T	NM_201384.3	NP_958786.1:p.(Arg569Trp)	NC_000008.10:g.145006993G>A	VUS	1 lab	d47d553a27
6:163984768 QKI A>G	6	163984768	163984768	A	G	QKI	c.934+17A>G	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163984768A>G	VUS	1 lab	d47d885f6f
1:47024454 MKNK1 G>A	1	47024454	47024454	G	A	MKNK1	c.1032C>T	NM_001135553.4	NP_001129025.2:p.(Asp344=)	NC_000001.10:g.47024454G>A	(Likely) benign	1 lab	d47f06ac3f
7:75614925 POR C>T	7	75614925	75614925	C	T	POR	c.1427C>T	NM_000941.3	NP_000932.3:p.(Ala476Val)	NC_000007.13:g.75614925C>T	VUS	1 lab	d4800c2184
2:170218826 LRP2 C>G	2	170218826	170218826	C	G	LRP2	c.79+5G>C	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170218826C>G	VUS	1 lab	d480236ca5
9:139401023 NOTCH1 C>T	9	139401023	139401023	C	T	NOTCH1	c.3970G>A	NM_017617.5	NP_060087.3:p.(Val1324Met)	NC_000009.11:g.139401023C>T	(Likely) benign	1 lab	d48178523b
7:156685675 LMBR1 C>T	7	156685675	156685675	C	T	LMBR1	c.13G>A	NM_022458.4	NP_071903.2:p.(Asp5Asn)	NC_000007.13:g.156685675C>T	(Likely) benign	1 lab	d481ca1688
12:49308242 DRC2 G>A	12	49308242	49308242	G	A	DRC2	c.356G>A	NM_033124.5	NP_149115.2:p.(Ser119Asn)	NC_000012.11:g.49308242G>A	(Likely) benign	1 lab	d48507a963
15:49076301 CEP152 C>T	15	49076301	49076301	C	T	CEP152	c.1190G>A	NM_001194998.2	NP_001181927.1:p.(Arg397His)	NC_000015.9:g.49076301C>T	VUS	1 lab	d4851312c7
5:176314078 HK3 C>G	5	176314078	176314078	C	G	HK3	c.1782G>C	NM_002115.3	NP_002106.2:p.(Lys594Asn)	NC_000005.9:g.176314078C>G	(Likely) benign	1 lab	d4864866e9
12:14940283 WBP11 C>T	12	14940283	14940283	C	T	WBP11	c.1642G>A	NM_016312.3	NP_057396.1:p.(Asp548Asn)	NC_000012.11:g.14940283C>T	VUS	1 lab	d4869a8637
1:22175439 HSPG2 G>A	1	22175439	22175439	G	A	HSPG2	c.7532C>T	NM_005529.7	NP_005520.4:p.(Thr2511Ile)	NC_000001.10:g.22175439G>A	(Likely) benign	1 lab	d48751a076
3:168802816 MECOM GC>TA	3	168802816	168802817	GC	TA	MECOM	c.3600_3601delinsTA	NM_004991.4	NP_004982.2:p.(Met1200_Leu1201delinsIleMet)	NC_000003.11:g.168802816_168802817delinsTA	VUS	1 lab	d488b3d426
X:100503287 DRP2 C>T	X	100503287	100503287	C	T	DRP2	c.1454+8C>T	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100503287C>T	(Likely) benign	1 lab	d49085fbe8
19:13184795 NFIX A>T	19	13184795	13184795	A	T	NFIX	c.773A>T	NM_001365902.3	NP_001352831.1:p.(Gln258Leu)	NC_000019.9:g.13184795A>T	VUS	1 lab	d491b1469c
X:130678144 OR13H1 A>G	X	130678144	130678144	A	G	OR13H1	c.97A>G	NM_001004486.1	NP_001004486.1:p.(Ile33Val)	NC_000023.10:g.130678144A>G	VUS	1 lab	d491b3850c
17:58740819 PPM1D C>T	17	58740819	58740819	C	T	PPM1D	c.1724C>T	NM_003620.4	NP_003611.1:p.(Ser575Phe)	NC_000017.10:g.58740819C>T	VUS	1 lab	d492211419
15:34064335 RYR3 C>T	15	34064335	34064335	C	T	RYR3	c.9031C>T	NM_001036.6	NP_001027.3:p.(His3011Tyr)	NC_000015.9:g.34064335C>T	VUS	1 lab	d492b1f4c5
X:76937243 ATRX T>G	X	76937243	76937243	T	G	ATRX	c.3505A>C	NM_000489.6	NP_000480.3:p.(Lys1169Gln)	NC_000023.10:g.76937243T>G	VUS	1 lab	d493642e9f
16:30721174 SRCAP G>C	16	30721174	30721174	G	C	SRCAP	c.859G>C	NM_006662.3	NP_006653.2:p.(Gly287Arg)	NC_000016.9:g.30721174G>C	VUS	1 lab	d4942a485b
1:44437552 DPH2 G>C	1	44437552	44437552	G	C	DPH2	c.978G>C	NM_001384.5	NP_001375.2:p.(Lys326Asn)	NC_000001.10:g.44437552G>C	VUS	1 lab	d497d7c78e
1:145608539 POLR3C G>A	1	145608539	145608539	G	A	POLR3C	c.268C>T	NM_006468.8	NP_006459.3:p.(Arg90Trp)	NC_000001.10:g.145608539G>A	VUS	1 lab	d498282d3e
17:71443755 SDK2 C>T	17	71443755	71443755	C	T	SDK2	c.612G>A	NM_001144952.2	NP_001138424.1:p.(Glu204=)	NC_000017.10:g.71443755C>T	VUS	1 lab	d49c17ed0b
16:2167795 PKD1 G>A	16	2167795	2167795	G	A	PKD1	c.1198C>T	NM_001009944.3	NP_001009944.3:p.(Arg400Ter)	NC_000016.9:g.2167795G>A	(Likely) pathogenic	1 lab	d49c6c0b25
4:99030456 STPG2 C>A	4	99030456	99030456	C	A	STPG2	c.388G>T	NM_174952.3	NP_777612.1:p.(Asp130Tyr)	NC_000004.11:g.99030456C>A	(Likely) benign	1 lab	d49d12a1cf
17:62022748 SCN4A C>T	17	62022748	62022748	C	T	SCN4A	c.3692G>A	NM_000334.4	NP_000325.4:p.(Gly1231Asp)	NC_000017.10:g.62022748C>T	VUS	1 lab	d49d64f818
22:37457225 KCTD17 C>A	22	37457225	37457225	C	A	KCTD17	c.784+10C>A	NM_001282684.2	NP_001269613.2:p.?	NC_000022.10:g.37457225C>A	(Likely) benign	1 lab	d49e1a3ef1
5:37182882 CPLANE1 C>T	5	37182882	37182882	C	T	CPLANE1	c.5401G>A	NM_001384732.1	NP_001371661.1:p.(Ala1801Thr)	NC_000005.9:g.37182882C>T	(Likely) benign	1 lab	d49e277103
4:79400869 FRAS1 G>A	4	79400869	79400869	G	A	FRAS1	c.8440G>A	NM_025074.7	NP_079350.5:p.(Ala2814Thr)	NC_000004.11:g.79400869G>A	VUS	1 lab	d49e67233a
2:172586210 DYNC1I2 T>C	2	172586210	172586210	T	C	DYNC1I2	c.1392-9T>C	NM_001378.3	NP_001369.1:p.?	NC_000002.11:g.172586210T>C	(Likely) benign	1 lab	d49efefeba
16:89347457 ANKRD11 G>GTCT	16	89347457	89347462	G	GTCT	ANKRD11	c.5490_5492dup	NM_013275.6	NP_037407.4:p.(Glu1830dup)	NC_000016.9:g.89347460_89347462dup	(Likely) benign	1 lab	d49fbb1c64
4:3235078 HTT C>T	4	3235078	3235078	C	T	HTT	c.8454C>T	NM_001388492.1	NP_001375421.1:p.(Ala2818=)	NC_000004.11:g.3235078C>T	VUS	1 lab	d4a2a6d494
1:103480068 COL11A1 C>T	1	103480068	103480068	C	T	COL11A1	c.1571G>A	NM_001854.4	NP_001845.3:p.(Arg524Gln)	NC_000001.10:g.103480068C>T	VUS	1 lab	d4a2b0a0b6
6:75855081 COL12A1 C>T	6	75855081	75855081	C	T	COL12A1	c.4651G>A	NM_004370.6	NP_004361.3:p.(Asp1551Asn)	NC_000006.11:g.75855081C>T	VUS	1 lab	d4a390877e
19:17397456 ANKLE1 GGTGTGT>G	19	17397456	17397500	GGTGTGT	G	ANKLE1	c.*134_*139del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397495_17397500del	(Likely) benign	1 lab	d4a4681c60
11:126306756 KIRREL3 G>A	11	126306756	126306756	G	A	KIRREL3	c.1502C>T	NM_032531.4	NP_115920.1:p.(Ala501Val)	NC_000011.9:g.126306756G>A	VUS	1 lab	d4a48a1c14
8:145001775 PLEC G>A	8	145001775	145001775	G	A	PLEC	c.3559C>T	NM_201384.3	NP_958786.1:p.(Arg1187Cys)	NC_000008.10:g.145001775G>A	VUS	1 lab	d4a538a329
3:47103776 SETD2 G>C	3	47103776	47103776	G	C	SETD2	c.6170C>G	NM_014159.7	NP_054878.5:p.(Pro2057Arg)	NC_000003.11:g.47103776G>C	(Likely) benign	1 lab	d4a7953057
X:149828185 MTM1 A>G	X	149828185	149828185	A	G	MTM1	c.1309A>G	NM_000252.3	NP_000243.1:p.(Ile437Val)	NC_000023.10:g.149828185A>G	(Likely) benign	1 lab	d4aa334cf8
3:121168266 POLQ T>C	3	121168266	121168266	T	C	POLQ	c.7160A>G	NM_199420.4	NP_955452.3:p.(Tyr2387Cys)	NC_000003.11:g.121168266T>C	VUS	1 lab	d4ab15c8ed
15:48782071 FBN1 G>C	15	48782071	48782071	G	C	FBN1	c.3059C>G	NM_000138.5	NP_000129.3:p.(Thr1020Arg)	NC_000015.9:g.48782071G>C	(Likely) benign	1 lab	d4ab757f55
7:128497288 FLNC G>A	7	128497288	128497288	G	A	FLNC	c.7678G>A	NM_001458.4	NP_001449.3:p.(Val2560Met)	NC_000007.13:g.128497288G>A	VUS	1 lab	37366ad353
17:48681493 CACNA1G A>ACCTC	17	48681493	48681507	A	ACCTC	CACNA1G	c.4170-12_4170-9dup	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48681504_48681507dup	VUS	1 lab	d4ad658620
7:4285395 SDK1 C>G	7	4285395	4285395	C	G	SDK1	c.6339C>G	NM_152744.4	NP_689957.3:p.(Ser2113Arg)	NC_000007.13:g.4285395C>G	VUS	1 lab	d4ae6dd9b3
6:26156965 H1-4 C>T	6	26156965	26156965	C	T	H1-4	c.347C>T	NM_005321.3	NP_005312.1:p.(Ala116Val)	NC_000006.11:g.26156965C>T	(Likely) benign	1 lab	d4af6d3141
5:160114807 ATP10B C>G	5	160114807	160114807	C	G	ATP10B	c.275G>C	NM_025153.3	NP_079429.2:p.(Arg92Thr)	NC_000005.9:g.160114807C>G	VUS	1 lab	d4b3a4e838
9:135982042 RALGDS C>T	9	135982042	135982042	C	T	RALGDS	c.1507G>A	NM_006266.4	NP_006257.1:p.(Asp503Asn)	NC_000009.11:g.135982042C>T	(Likely) benign	1 lab	d4b4b19155
22:40742705 ADSL A>G	22	40742705	40742705	A	G	ADSL	c.143A>G	NM_000026.4	NP_000017.1:p.(Glu48Gly)	NC_000022.10:g.40742705A>G	VUS	1 lab	d4c5b4aa7f
19:1397404 GAMT TAGC>T	19	1397404	1397407	TAGC	T	GAMT	c.662_664del	NM_000156.6	NP_000147.1:p.(Arg221_Tyr222delinsHis)	NC_000019.9:g.1397405_1397407del	VUS	1 lab	d4b4b336c2
11:68080214 LRP5 C>CGCTGCTGCT	11	68080214	68080242	C	CGCTGCTGCT	LRP5	c.52_60dup	NM_002335.4	NP_002326.2:p.(Leu18_Leu20dup)	NC_000011.9:g.68080234_68080242dup	VUS	1 lab	d4b4d5a99d
7:44805802 ZMIZ2 T>TGC	7	44805802	44805803	T	TGC	ZMIZ2	c.2282_2283insGC	NM_031449.4	NP_113637.3:p.(Phe761LeufsTer33)	NC_000007.13:g.44805802_44805803insGC	(Likely) benign	1 lab	d4b4f1e1fe
7:44152331 AEBP1 G>A	7	44152331	44152331	G	A	AEBP1	c.2392G>A	NM_001129.5	NP_001120.3:p.(Asp798Asn)	NC_000007.13:g.44152331G>A	(Likely) benign	1 lab	d4b5b4e0e0
8:145736828 RECQL4 G>A	8	145736828	145736828	G	A	RECQL4	c.3613C>T	NM_004260.4	NP_004251.4:p.(Gln1205Ter)	NC_000008.10:g.145736828G>A	(Likely) pathogenic	1 lab	d4b665399e
7:114066645 FOXP2 T>A	7	114066645	114066645	T	A	FOXP2	c.79T>A	NM_014491.4	NP_055306.1:p.(Leu27Ile)	NC_000007.13:g.114066645T>A	VUS	1 lab	d4b697ddd6
2:197763095 PGAP1 TAAAAG>T	2	197763095	197763109	TAAAAG	T	PGAP1	c.808-7_808-3del	NM_024989.4	NP_079265.2:p.?	NC_000002.11:g.197763105_197763109del	(Likely) benign	1 lab	d4b7a9ef12
17:34264790 LYZL6 C>T	17	34264790	34264790	C	T	LYZL6	c.270G>A	NM_020426.4	NP_065159.1:p.(Ser90=)	NC_000017.10:g.34264790C>T	(Likely) benign	1 lab	d4ba7f16ff
18:31324001 ASXL3 T>C	18	31324001	31324001	T	C	ASXL3	c.4189T>C	NM_030632.3	NP_085135.1:p.(Cys1397Arg)	NC_000018.9:g.31324001T>C	(Likely) benign	1 lab	d4ba974df4
17:57125179 TRIM37 T>A	17	57125179	57125179	T	A	TRIM37	c.1532A>T	NM_015294.6	NP_056109.1:p.(His511Leu)	NC_000017.10:g.57125179T>A	VUS	1 lab	d4c084fe46
11:87032273 TMEM135 T>A	11	87032273	87032273	T	A	TMEM135	c.1275T>A	NM_022918.4	NP_075069.3:p.(Asp425Glu)	NC_000011.9:g.87032273T>A	VUS	1 lab	d4c21bfd7b
2:219922246 IHH C>A	2	219922246	219922246	C	A	IHH	c.486G>T	NM_002181.4	NP_002172.2:p.(Lys162Asn)	NC_000002.11:g.219922246C>A	VUS	1 lab	d4c21ee8f3
21:47663399 MCM3AP G>A	21	47663399	47663399	G	A	MCM3AP	c.5276C>T	NM_003906.5	NP_003897.2:p.(Pro1759Leu)	NC_000021.8:g.47663399G>A	VUS	1 lab	d4c39359c8
4:48559502 FRYL C>T	4	48559502	48559502	C	T	FRYL	c.4093G>A	NM_015030.2	NP_055845.1:p.(Val1365Ile)	NC_000004.11:g.48559502C>T	(Likely) benign	1 lab	d4c6c67db0
Y:22921902 RPS4Y2 G>T	Y	22921902	22921902	G	T	RPS4Y2	c.230G>T	NM_001039567.3	NP_001034656.1:p.(Arg77Leu)	NC_000024.9:g.22921902G>T	(Likely) benign	1 lab	d4c6d89dec
20:3652347 ADAM33 T>C	20	3652347	3652347	T	C	ADAM33	c.1786A>G	NM_025220.5	NP_079496.1:p.(Thr596Ala)	NC_000020.10:g.3652347T>C	(Likely) benign	1 lab	d4c6dd44fe
6:90513189 MDN1 G>A	6	90513189	90513189	G	A	MDN1	c.187C>T	NM_014611.3	NP_055426.1:p.(Arg63Cys)	NC_000006.11:g.90513189G>A	VUS	1 lab	d4c7486206
11:118374303 KMT2A G>A	11	118374303	118374303	G	A	KMT2A	c.7696G>A	NM_001197104.2	NP_001184033.1:p.(Glu2566Lys)	NC_000011.9:g.118374303G>A	VUS	1 lab	d4c7d50581
12:6952814 GNB3 G>A	12	6952814	6952814	G	A	GNB3	c.449G>A	NM_002075.4	NP_002066.1:p.(Arg150His)	NC_000012.11:g.6952814G>A	VUS	1 lab	d4c7f2c5c3
8:23147390 R3HCC1 C>T	8	23147390	23147390	C	T	R3HCC1	c.260C>T	NM_001136108.3	NP_001129580.2:p.(Ser87Leu)	NC_000008.10:g.23147390C>T	(Likely) benign	1 lab	d4c815ed80
9:35800366 NPR2 G>A	9	35800366	35800366	G	A	NPR2	c.1124-20G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800366G>A	(Likely) benign	1 lab	d4c8544d2f
15:64680105 TRIP4 T>C	15	64680105	64680105	T	C	TRIP4	c.43T>C	NM_016213.5	NP_057297.2:p.(Trp15Arg)	NC_000015.9:g.64680105T>C	VUS	1 lab	d4c88de3c6
11:17491717 ABCC8 T>C	11	17491717	17491717	T	C	ABCC8	c.343A>G	NM_000352.6	NP_000343.2:p.(Met115Val)	NC_000011.9:g.17491717T>C	(Likely) benign	1 lab	d4c9901f9f
1:205899115 SLC26A9 T>C	1	205899115	205899115	T	C	SLC26A9	c.622A>G	NM_052934.4	NP_443166.1:p.(Met208Val)	NC_000001.10:g.205899115T>C	VUS	1 lab	d4cb3d6be2
2:86832291 RNF103 G>T	2	86832291	86832291	G	T	RNF103	c.733C>A	NM_005667.4	NP_005658.1:p.(Gln245Lys)	NC_000002.11:g.86832291G>T	VUS	1 lab	d4cbbb0cd4
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	d4cce7ace0
17:56280666 EPX C>T	17	56280666	56280666	C	T	EPX	c.1933C>T	NM_000502.6	NP_000493.1:p.(Arg645Ter)	NC_000017.10:g.56280666C>T	VUS	1 lab	d4d218b09b
5:78260271 ARSB T>C	5	78260271	78260271	T	C	ARSB	c.658A>G	NM_000046.5	NP_000037.2:p.(Ile220Val)	NC_000005.9:g.78260271T>C	(Likely) benign	1 lab	d4d28870e4
20:19955599 RIN2 G>C	20	19955599	19955599	G	C	RIN2	c.930G>C	NM_018993.4	NP_061866.1:p.(Arg310Ser)	NC_000020.10:g.19955599G>C	(Likely) benign	1 lab	d4d3c740dd
21:46900782 COL18A1 G>A	21	46900782	46900782	G	A	COL18A1	c.1611+10G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46900782G>A	(Likely) benign	1 lab	d4d416d050
X:18836203 PPEF1 G>A	X	18836203	18836203	G	A	PPEF1	c.1441G>A	NM_001377996.1	NP_001364925.1:p.(Val481Met)	NC_000023.10:g.18836203G>A	VUS	1 lab	d4d50942c2
2:152536322 NEB C>A	2	152536322	152536322	C	A	NEB	c.3168G>T	NM_001164508.2	NP_001157980.2:p.(Leu1056Phe)	NC_000002.11:g.152536322C>A	(Likely) benign	1 lab	d4d6ad0564
17:41738598 MEOX1 C>T	17	41738598	41738598	C	T	MEOX1	c.305G>A	NM_004527.4	NP_004518.1:p.(Arg102Gln)	NC_000017.10:g.41738598C>T	VUS	1 lab	d4d71d0b6c
7:5410165 TNRC18 C>G	7	5410165	5410165	C	G	TNRC18	c.4060G>C	NM_001080495.3	NP_001073964.2:p.(Ala1354Pro)	NC_000007.13:g.5410165C>G	VUS	1 lab	d4d7580fe0
11:32456689 WT1 T>A	11	32456689	32456689	T	A	WT1	c.218A>T	NM_024426.6	NP_077744.4:p.(Gln73Leu)	NC_000011.9:g.32456689T>A	(Likely) benign	1 lab	d4d952f976
16:2167614 PKD1 G>A	16	2167614	2167614	G	A	PKD1	c.1261C>T	NM_001009944.3	NP_001009944.3:p.(Arg421Cys)	NC_000016.9:g.2167614G>A	(Likely) pathogenic	1 lab	d4d9a13d33
1:103352407 COL11A1 C>T	1	103352407	103352407	C	T	COL11A1	c.4814G>A	NM_001854.4	NP_001845.3:p.(Arg1605Gln)	NC_000001.10:g.103352407C>T	VUS	1 lab	d4d9c26813
8:145741697 RECQL4 C>G	8	145741697	145741697	C	G	RECQL4	c.806G>C	NM_004260.4	NP_004251.4:p.(Trp269Ser)	NC_000008.10:g.145741697C>G	VUS	1 lab	d4db7623f5
3:105421277 CBLB T>C	3	105421277	105421277	T	C	CBLB	c.1620A>G	NM_170662.5	NP_733762.2:p.(Gln540=)	NC_000003.11:g.105421277T>C	(Likely) benign	1 lab	d4dc127ad3
19:40376874 FCGBP G>A	19	40376874	40376874	G	A	FCGBP	c.11548C>T	NM_003890.3	NP_003881.2:p.(Pro3850Ser)	NC_000019.9:g.40376874G>A	(Likely) benign	1 lab	d4e0233d72
13:28494614 PDX1 C>T	13	28494614	28494614	C	T	PDX1	c.339C>T	NM_000209.4	NP_000200.1:p.(Asn113=)	NC_000013.10:g.28494614C>T	VUS	1 lab	d4e058a308
9:27213567 TEK G>A	9	27213567	27213567	G	A	TEK	c.2963G>A	NM_000459.5	NP_000450.3:p.(Gly988Asp)	NC_000009.11:g.27213567G>A	VUS	1 lab	d4e1abbe2b
3:49759388 GMPPB A>C	3	49759388	49759388	A	C	GMPPB	c.951+10T>G	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49759388A>C	(Likely) benign	1 lab	d4e33e8bd8
X:136649659 ZIC3 G>C	X	136649659	136649659	G	C	ZIC3	c.809G>C	NM_003413.4	NP_003404.1:p.(Arg270Pro)	NC_000023.10:g.136649659G>C	VUS	1 lab	d4e41878f2
19:46281001 DMPK T>A	19	46281001	46281001	T	A	DMPK	c.836A>T	NM_001081563.2	NP_001075032.1:p.(Tyr279Phe)	NC_000019.9:g.46281001T>A	VUS	1 lab	2bf40b76be
2:118575304 DDX18 G>A	2	118575304	118575304	G	A	DDX18	c.370G>A	NM_006773.4	NP_006764.3:p.(Asp124Asn)	NC_000002.11:g.118575304G>A	(Likely) benign	1 lab	d4e6fe1156
14:68944357 RAD51B TCC>T	14	68944357	68944359	TCC	T	RAD51B	c.1037-7_1037-6del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68944358_68944359del	(Likely) benign	1 lab	d4e813908d
10:75414035 SYNPO2L G>T	10	75414035	75414035	G	T	SYNPO2L	c.109C>A	NM_001114133.3	NP_001107605.1:p.(Arg37=)	NC_000010.10:g.75414035G>T	(Likely) benign	1 lab	d4eb5e7402
7:151962055 KMT2C C>T	7	151962055	151962055	C	T	KMT2C	c.1184+68G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151962055C>T	(Likely) benign	1 lab	d4ebcedcc9
9:139749101 MAMDC4 C>T	9	139749101	139749101	C	T	MAMDC4	c.907C>T	NM_206920.3	NP_996803.2:p.(Arg303Cys)	NC_000009.11:g.139749101C>T	VUS	1 lab	d4ebeafb97
3:183957771 VWA5B2 G>A	3	183957771	183957771	G	A	VWA5B2	c.2687G>A	NM_001390846.1	NP_001377775.1:p.(Arg896Gln)	NC_000003.11:g.183957771G>A	VUS	1 lab	d4ecbd4f08
2:239257976 TRAF3IP1 C>T	2	239257976	239257976	C	T	TRAF3IP1	c.1378C>T	NM_015650.4	NP_056465.2:p.(Arg460Trp)	NC_000002.11:g.239257976C>T	VUS	1 lab	d4ed6c6cac
11:17414682 ABCC8 A>T	11	17414682	17414682	A	T	ABCC8	c.4609-7T>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17414682A>T	(Likely) benign	1 lab	d4edffebb1
16:5110312 C16orf89 ACACGT>A	16	5110312	5110320	ACACGT	A	C16orf89	c.479_483del	NM_001098514.3	NP_001091984.2:p.(Asp160ValfsTer78)	NC_000016.9:g.5110316_5110320del	VUS	1 lab	d4f2022e8e
X:71801013 PHKA1 C>T	X	71801013	71801013	C	T	PHKA1	c.3511G>A	NM_002637.4	NP_002628.2:p.(Ala1171Thr)	NC_000023.10:g.71801013C>T	(Likely) benign	1 lab	d4f304a2d0
22:50316346 CRELD2 G>A	22	50316346	50316346	G	A	CRELD2	c.679G>A	NM_024324.5	NP_077300.3:p.(Ala227Thr)	NC_000022.10:g.50316346G>A	(Likely) benign	1 lab	d4f306b2ea
2:109380941 RANBP2 T>A	2	109380941	109380941	T	A	RANBP2	c.3946T>A	NM_006267.5	NP_006258.3:p.(Ser1316Thr)	NC_000002.11:g.109380941T>A	VUS	1 lab	d4f36f28da
5:139936825 SRA1 G>C	5	139936825	139936825	G	C	SRA1	c.58C>G	NM_001035235.4	NP_001030312.3:p.(Gln20Glu)	NC_000005.9:g.139936825G>C	(Likely) benign	1 lab	d4f384aa9f
6:51890847 PKHD1 G>C	6	51890847	51890847	G	C	PKHD1	c.3761C>G	NM_138694.4	NP_619639.3:p.(Ala1254Gly)	NC_000006.11:g.51890847G>C	VUS	1 lab	d4f3e31462
19:1058640 ABCA7 C>CA	19	1058640	1058641	C	CA	ABCA7	c.5173_5174insA	NM_019112.4	NP_061985.2:p.(Leu1725HisfsTer55)	NC_000019.9:g.1058640_1058641insA	VUS	1 lab	d4f73c17bd
15:43244587 UBR1 G>A	15	43244587	43244587	G	A	UBR1	c.4895C>T	NM_174916.3	NP_777576.1:p.(Ala1632Val)	NC_000015.9:g.43244587G>A	(Likely) benign	1 lab	d4f8297710
6:117201756 RFX6 A>ACACTACTTAGATTTCTGTATGCACACTACTTAGAT	6	117201756	117201757	A	ACACTACTTAGATTTCTGTATGCACACTACTTAGAT	RFX6	c.430_431insCACTACTTAGATTTCTGTATGCACACTACTTAGAT	NM_173560.4	NP_775831.2:p.(Ile144ThrfsTer19)	NC_000006.11:g.117201756_117201757insCACTACTTAGATTTCTGTATGCACACTACTTAGAT	(Likely) pathogenic	1 lab	d4f8eca067
10:112343594 SMC3 T>C	10	112343594	112343594	T	C	SMC3	c.970-5T>C	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112343594T>C	(Likely) benign	1 lab	d4f8fcebd4
12:79689972 SYT1 C>T	12	79689972	79689972	C	T	SYT1	c.598C>T	NM_005639.3	NP_005630.1:p.(Arg200Ter)	NC_000012.11:g.79689972C>T	VUS	1 lab	d4f92b0bf0
3:195974276 PCYT1A G>C	3	195974276	195974276	G	C	PCYT1A	c.448C>G	NM_001312673.2	NP_001299602.1:p.(Pro150Ala)	NC_000003.11:g.195974276G>C	(Likely) pathogenic	1 lab	d4f9bbbc44
2:43804317 THADA C>A	2	43804317	43804317	C	A	THADA	c.881G>T	NM_022065.5	NP_071348.3:p.(Cys294Phe)	NC_000002.11:g.43804317C>A	VUS	1 lab	d4fb1dd612
19:55870782 GARIN5B G>A	19	55870782	55870782	G	A	GARIN5B	c.1454C>T	NM_001145402.2	NP_001138874.1:p.(Ala485Val)	NC_000019.9:g.55870782G>A	VUS	1 lab	d4fb747a57
21:47686003 MCM3AP C>T	21	47686003	47686003	C	T	MCM3AP	c.2867G>A	NM_003906.5	NP_003897.2:p.(Arg956Lys)	NC_000021.8:g.47686003C>T	VUS	1 lab	d4fcc4ec82
2:98354347 ZAP70 A>G	2	98354347	98354347	A	G	ZAP70	c.1610A>G	NM_001079.4	NP_001070.2:p.(Gln537Arg)	NC_000002.11:g.98354347A>G	VUS	1 lab	d4fce639bd
8:145618105 ADCK5 C>T	8	145618105	145618105	C	T	ADCK5	c.1635C>T	NM_174922.5	NP_777582.4:p.(Leu545=)	NC_000008.10:g.145618105C>T	(Likely) benign	1 lab	d4fd94e4a9
3:158408093 GFM1 A>C	3	158408093	158408093	A	C	GFM1	c.2051A>C	NM_024996.7	NP_079272.4:p.(Tyr684Ser)	NC_000003.11:g.158408093A>C	VUS	1 lab	d4ff8762ac
3:53269014 TKT C>T	3	53269014	53269014	C	T	TKT	c.614G>A	NM_001064.4	NP_001055.1:p.(Arg205Gln)	NC_000003.11:g.53269014C>T	VUS	1 lab	d4ff8a5cdf
2:86265904 POLR1A C>A	2	86265904	86265904	C	A	POLR1A	c.3953G>T	NM_015425.6	NP_056240.2:p.(Arg1318Leu)	NC_000002.11:g.86265904C>A	VUS	1 lab	d4ff9203f9
11:65994758 PACS1 G>A	11	65994758	65994758	G	A	PACS1	c.1294-217G>A	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65994758G>A	(Likely) benign	1 lab	d500b278c2
5:149754182 TCOF1 G>A	5	149754182	149754182	G	A	TCOF1	c.1086G>A	NM_001371623.1	NP_001358552.1:p.(Ala362=)	NC_000005.9:g.149754182G>A	(Likely) benign	1 lab	d50441e65b
16:69374186 NIP7 A>C	16	69374186	69374186	A	C	NIP7	c.233A>C	NM_016101.5	NP_057185.1:p.(Lys78Thr)	NC_000016.9:g.69374186A>C	(Likely) benign	1 lab	d504f92fe4
2:88857391 EIF2AK3 T>C	2	88857391	88857391	T	C	EIF2AK3	c.3214A>G	NM_004836.7	NP_004827.4:p.(Ile1072Val)	NC_000002.11:g.88857391T>C	VUS	1 lab	d50615f52c
17:44851220 WNT3 C>T	17	44851220	44851220	C	T	WNT3	c.136G>A	NM_030753.5	NP_110380.1:p.(Gly46Ser)	NC_000017.10:g.44851220C>T	VUS	1 lab	d5072b722c
X:153296267 MECP2 TCTTCA>T	X	153296267	153296272	TCTTCA	T	MECP2	c.1043_1047del	NM_001110792.2	NP_001104262.1:p.(Leu348HisfsTer3)	NC_000023.10:g.153296268_153296272del	(Likely) pathogenic	1 lab	d5083f7d73
2:10585097 ODC1 T>C	2	10585097	10585097	T	C	ODC1	c.62A>G	NM_002539.3	NP_002530.1:p.(Lys21Arg)	NC_000002.11:g.10585097T>C	(Likely) benign	1 lab	d508d3a31a
9:133280299 HMCN2 C>T	9	133280299	133280299	C	T	HMCN2	c.12192C>T	NM_001291815.2	NP_001278744.1:p.(Thr4064=)	NC_000009.11:g.133280299C>T	VUS	1 lab	d509f194c5
6:110061342 FIG4 A>G	6	110061342	110061342	A	G	FIG4	c.776-1305A>G	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110061342A>G	VUS	1 lab	2bfbb2cd27
8:28574900 EXTL3 G>C	8	28574900	28574900	G	C	EXTL3	c.1324G>C	NM_001440.4	NP_001431.1:p.(Val442Leu)	NC_000008.10:g.28574900G>C	(Likely) benign	1 lab	d50c2df681
12:112893772 PTPN11 A>T	12	112893772	112893772	A	T	PTPN11	c.661A>T	NM_002834.5	NP_002825.3:p.(Ile221Leu)	NC_000012.11:g.112893772A>T	VUS	1 lab	d50f99ac2d
2:230669779 TRIP12 G>A	2	230669779	230669779	G	A	TRIP12	c.2650+667C>T	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230669779G>A	(Likely) benign	1 lab	d510b12a92
1:22198803 HSPG2 C>T	1	22198803	22198803	C	T	HSPG2	c.4097G>A	NM_005529.7	NP_005520.4:p.(Arg1366His)	NC_000001.10:g.22198803C>T	(Likely) benign	1 lab	d511e87d39
6:133849862 EYA4 G>C	6	133849862	133849862	G	C	EYA4	c.1840-1G>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133849862G>C	(Likely) pathogenic	1 lab	d511ebcf53
17:48434513 XYLT2 C>T	17	48434513	48434513	C	T	XYLT2	c.1841C>T	NM_022167.4	NP_071450.2:p.(Ala614Val)	NC_000017.10:g.48434513C>T	(Likely) benign	1 lab	d515275533
21:34067360 SYNJ1 T>C	21	34067360	34067360	T	C	SYNJ1	c.822+7A>G	NM_203446.2	NP_982271.2:p.?	NC_000021.8:g.34067360T>C	(Likely) benign	1 lab	2e03a1fefb
5:59189166 PDE4D T>A	5	59189166	59189166	T	A	PDE4D	c.284A>T	NM_001104631.2	NP_001098101.1:p.(Tyr95Phe)	NC_000005.9:g.59189166T>A	VUS	1 lab	d516b19490
6:110056403 FIG4 G>A	6	110056403	110056403	G	A	FIG4	c.548G>A	NM_014845.6	NP_055660.1:p.(Arg183Gln)	NC_000006.11:g.110056403G>A	(Likely) benign	1 lab	d51c2b1b9c
11:47469699 RAPSN C>T	11	47469699	47469699	C	T	RAPSN	c.196G>A	NM_005055.5	NP_005046.2:p.(Ala66Thr)	NC_000011.9:g.47469699C>T	VUS	1 lab	d51cb614ab
9:123292264 CDK5RAP2 C>T	9	123292264	123292264	C	T	CDK5RAP2	c.817G>A	NM_018249.6	NP_060719.4:p.(Glu273Lys)	NC_000009.11:g.123292264C>T	VUS	1 lab	d51e73e6ea
6:45390445 RUNX2 A>ACAGCAG	6	45390445	45390465	A	ACAGCAG	RUNX2	c.189_194dup	NM_001024630.4	NP_001019801.3:p.(Gln70_Gln71dup)	NC_000006.11:g.45390460_45390465dup	(Likely) benign	1 lab	d5200e290d
15:29561828 ENTREP2 C>G	15	29561828	29561828	C	G	ENTREP2	c.277-17146G>C	NM_015307.2	NP_056122.1:p.?	NC_000015.9:g.29561828C>G	VUS	1 lab	d5220f894e
X:153001546 ABCD1 A>C	X	153001546	153001546	A	C	ABCD1	c.1082-20A>C	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153001546A>C	VUS	1 lab	d522a45783
6:117241587 RFX6 A>T	6	117241587	117241587	A	T	RFX6	c.1297A>T	NM_173560.4	NP_775831.2:p.(Thr433Ser)	NC_000006.11:g.117241587A>T	VUS	1 lab	d5238783d3
12:115120725 TBX3 T>C	12	115120725	115120725	T	C	TBX3	c.281A>G	NM_005996.4	NP_005987.3:p.(Glu94Gly)	NC_000012.11:g.115120725T>C	(Likely) benign	1 lab	d52397a39c
17:33481764 UNC45B A>T	17	33481764	33481764	A	T	UNC45B	c.639+4A>T	NM_001267052.2	NP_001253981.1:p.?	NC_000017.10:g.33481764A>T	(Likely) benign	1 lab	d524f5ec0f
17:10434944 MYH2 A>T	17	10434944	10434944	A	T	MYH2	c.2697+6T>A	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10434944A>T	VUS	1 lab	d525d10768
1:201982366 ELF3 CG>C	1	201982366	201982368	CG	C	ELF3	c.747del	NM_004433.5	NP_004424.3:p.(Arg251GlufsTer3)	NC_000001.10:g.201982368del	VUS	1 lab	d526f6c890
16:15179501 RRN3 T>C	16	15179501	15179501	T	C	RRN3	c.527A>G	NM_018427.5	NP_060897.3:p.(Asp176Gly)	NC_000016.9:g.15179501T>C	VUS	1 lab	d52735a50d
1:160011512 KCNJ10 G>A	1	160011512	160011512	G	A	KCNJ10	c.811C>T	NM_002241.5	NP_002232.2:p.(Arg271Cys)	NC_000001.10:g.160011512G>A	(Likely) benign	1 lab	2e07c57582
20:44523671 CTSA C>T	20	44523671	44523671	C	T	CTSA	c.987C>T	NM_000308.4	NP_000299.3:p.(Pro329=)	NC_000020.10:g.44523671C>T	(Likely) benign	1 lab	d52a420ccb
13:77900635 MYCBP2 GC>G	13	77900635	77900641	GC	G	MYCBP2	c.275del	NM_015057.5	NP_055872.4:p.(Gly92AlafsTer15)	NC_000013.10:g.77900641del	VUS	1 lab	d52bd85eca
3:39148995 GORASP1 C>T	3	39148995	39148995	C	T	GORASP1	c.38G>A	NM_031899.4	NP_114105.1:p.(Gly13Asp)	NC_000003.11:g.39148995C>T	(Likely) benign	1 lab	d52ced0e0b
12:113599154 DDX54 A>T	12	113599154	113599154	A	T	DDX54	c.2334T>A	NM_024072.4	NP_076977.3:p.(Asp778Glu)	NC_000012.11:g.113599154A>T	(Likely) benign	1 lab	d52f01fa93
14:31107338 SCFD1 G>A	14	31107338	31107338	G	A	SCFD1	c.320G>A	NM_016106.4	NP_057190.2:p.(Arg107Gln)	NC_000014.8:g.31107338G>A	(Likely) benign	1 lab	d52f045c4a
17:12906853 ELAC2 A>ACCAC	17	12906853	12906858	A	ACCAC	ELAC2	c.1018_1021dup	NM_018127.7	NP_060597.4:p.(Val341GlyfsTer25)	NC_000017.10:g.12906855_12906858dup	VUS	1 lab	d52fe4765b
22:46829333 CELSR1 C>G	22	46829333	46829333	C	G	CELSR1	c.4568G>C	NM_001378328.1	NP_001365257.1:p.(Ser1523Thr)	NC_000022.10:g.46829333C>G	VUS	1 lab	d530b44dd7
7:151927023 KMT2C G>C	7	151927023	151927023	G	C	KMT2C	c.2961C>G	NM_170606.3	NP_733751.2:p.(Tyr987Ter)	NC_000007.13:g.151927023G>C	VUS	1 lab	2e0895a815
10:89473817 PAPSS2 G>A	10	89473817	89473817	G	A	PAPSS2	c.398G>A	NM_001015880.2	NP_001015880.1:p.(Arg133His)	NC_000010.10:g.89473817G>A	VUS	1 lab	d531adc82e
11:6654670 DCHS1 C>T	11	6654670	6654670	C	T	DCHS1	c.2428G>A	NM_003737.4	NP_003728.1:p.(Gly810Ser)	NC_000011.9:g.6654670C>T	VUS	1 lab	d532e5fff3
13:48881484 RB1 A>G	13	48881484	48881484	A	G	RB1	c.206A>G	NM_000321.3	NP_000312.2:p.(His69Arg)	NC_000013.10:g.48881484A>G	VUS	1 lab	2bfcbe04fd
7:21658847 DNAH11 T>G	7	21658847	21658847	T	G	DNAH11	c.4377+7T>G	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21658847T>G	(Likely) benign	1 lab	d533f015d3
2:113147370 RGPD8 G>A	2	113147370	113147370	G	A	RGPD8	c.3152C>T	NM_001164463.1	NP_001157935.1:p.(Thr1051Ile)	NC_000002.11:g.113147370G>A	(Likely) benign	1 lab	d53681295e
1:27874624 AHDC1 C>T	1	27874624	27874624	C	T	AHDC1	c.4003G>A	NM_001371928.1	NP_001358857.1:p.(Val1335Met)	NC_000001.10:g.27874624C>T	(Likely) benign	1 lab	d53685781e
16:51173281 SALL1 G>A	16	51173281	51173281	G	A	SALL1	c.2852C>T	NM_002968.3	NP_002959.2:p.(Ala951Val)	NC_000016.9:g.51173281G>A	VUS	1 lab	d536a10791
2:216211660 ATIC G>A	2	216211660	216211660	G	A	ATIC	c.1499G>A	NM_004044.7	NP_004035.2:p.(Gly500Asp)	NC_000002.11:g.216211660G>A	(Likely) benign	1 lab	d53787956e
1:150917623 SETDB1 T>TG	1	150917623	150917631	T	TG	SETDB1	c.1140+47dup	NM_001366418.1	NP_001353347.1:p.?	NC_000001.10:g.150917631dup	(Likely) benign	1 lab	d537ed7069
X:152612415 ZNF275 G>A	X	152612415	152612415	G	A	ZNF275	c.272G>A	NM_001367757.1	NP_001354686.1:p.(Ser91Asn)	NC_000023.10:g.152612415G>A	VUS	1 lab	d5383ac88d
7:100644775 MUC12 C>T	7	100644775	100644775	C	T	MUC12	c.10931C>T	NM_001164462.2	NP_001157934.1:p.(Thr3644Met)	NC_000007.13:g.100644775C>T	(Likely) benign	1 lab	d53934eeea
17:76127956 TMC8 C>T	17	76127956	76127956	C	T	TMC8	c.150-7C>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76127956C>T	(Likely) benign	1 lab	2e0be46a47
X:153224837 HCFC1 G>A	X	153224837	153224837	G	A	HCFC1	c.1550C>T	NM_005334.3	NP_005325.2:p.(Thr517Ile)	NC_000023.10:g.153224837G>A	VUS	1 lab	d53a1ff423
1:43396500 SLC2A1 C>T	1	43396500	43396500	C	T	SLC2A1	c.313G>A	NM_006516.4	NP_006507.2:p.(Val105Met)	NC_000001.10:g.43396500C>T	(Likely) benign	1 lab	d53cbd848f
12:106460837 NUAK1 C>T	12	106460837	106460837	C	T	NUAK1	c.1729G>A	NM_014840.3	NP_055655.1:p.(Val577Met)	NC_000012.11:g.106460837C>T	(Likely) benign	1 lab	d53d22f423
17:61498022 TANC2 C>T	17	61498022	61498022	C	T	TANC2	c.4931C>T	NM_001394998.1	NP_001381927.1:p.(Ser1644Leu)	NC_000017.10:g.61498022C>T	VUS	1 lab	d53d443775
19:18271854 PIK3R2 G>T	19	18271854	18271854	G	T	PIK3R2	c.467-10G>T	NM_005027.4	NP_005018.2:p.?	NC_000019.9:g.18271854G>T	(Likely) benign	1 lab	d53dbfaa3f
19:48946259 GRIN2D G>A	19	48946259	48946259	G	A	GRIN2D	c.3076G>A	NM_000836.4	NP_000827.2:p.(Gly1026Ser)	NC_000019.9:g.48946259G>A	(Likely) benign	1 lab	d53edd089c
17:7106339 DLG4 T>C	17	7106339	7106339	T	C	DLG4	c.670A>G	NM_001321075.3	NP_001308004.1:p.(Met224Val)	NC_000017.10:g.7106339T>C	(Likely) benign	1 lab	d53f0c377a
1:114380395 PTPN22 T>C	1	114380395	114380395	T	C	PTPN22	c.1627A>G	NM_015967.8	NP_057051.4:p.(Ser543Gly)	NC_000001.10:g.114380395T>C	(Likely) benign	1 lab	d53f0e7198
4:5687153 EVC2 C>T	4	5687153	5687153	C	T	EVC2	c.760G>A	NM_147127.5	NP_667338.3:p.(Gly254Arg)	NC_000004.11:g.5687153C>T	(Likely) benign	1 lab	d53fbcc9b2
1:120612007 NOTCH2 C>A	1	120612007	120612007	C	A	NOTCH2	c.14G>T	NM_024408.4	NP_077719.2:p.(Arg5Leu)	NC_000001.10:g.120612007C>A	VUS	1 lab	d542d3dc8e
4:55603452 KIT T>C	4	55603452	55603452	T	C	KIT	c.2802+6T>C	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55603452T>C	(Likely) benign	1 lab	d54398bcea
2:74328207 TET3 C>G	2	74328207	74328207	C	G	TET3	c.4292C>G	NM_001287491.2	NP_001274420.1:p.(Pro1431Arg)	NC_000002.11:g.74328207C>G	VUS	1 lab	d545f9a11c
19:50093300 PRRG2 C>G	19	50093300	50093300	C	G	PRRG2	c.581C>G	NM_000951.3	NP_000942.1:p.(Pro194Arg)	NC_000019.9:g.50093300C>G	VUS	1 lab	d5777b53a1
20:5282687 PROKR2 C>A	20	5282687	5282687	C	A	PROKR2	c.1154G>T	NM_144773.4	NP_658986.1:p.(Ter385LeuextTer43)	NC_000020.10:g.5282687C>A	(Likely) benign	1 lab	d549935e02
1:152282203 FLG C>G	1	152282203	152282203	C	G	FLG	c.5159G>C	NM_002016.2	NP_002007.1:p.(Ser1720Thr)	NC_000001.10:g.152282203C>G	(Likely) benign	1 lab	d549980d4d
17:42085048 NAGS G>A	17	42085048	42085048	G	A	NAGS	c.1358G>A	NM_153006.3	NP_694551.1:p.(Gly453Asp)	NC_000017.10:g.42085048G>A	VUS	1 lab	d54a08d7d6
9:119115913 PAPPA G>C	9	119115913	119115913	G	C	PAPPA	c.4188G>C	NM_002581.5	NP_002572.2:p.(Lys1396Asn)	NC_000009.11:g.119115913G>C	VUS	1 lab	d54bde511c
11:64497601 RASGRP2 C>G	11	64497601	64497601	C	G	RASGRP2	c.1478G>C	NM_001098671.2	NP_001092141.1:p.(Gly493Ala)	NC_000011.9:g.64497601C>G	(Likely) benign	1 lab	d54cc382a7
5:13754410 DNAH5 A>G	5	13754410	13754410	A	G	DNAH5	c.10457T>C	NM_001369.3	NP_001360.1:p.(Met3486Thr)	NC_000005.9:g.13754410A>G	(Likely) benign	1 lab	d54cdff416
X:47436173 SYN1 C>T	X	47436173	47436173	C	T	SYN1	c.838-134G>A	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47436173C>T	(Likely) benign	1 lab	2e0c2d13a9
6:51611649 PKHD1 C>T	6	51611649	51611649	C	T	PKHD1	c.9868G>A	NM_138694.4	NP_619639.3:p.(Asp3290Asn)	NC_000006.11:g.51611649C>T	VUS	1 lab	d54dd12a5b
6:70990705 COL9A1 A>ACCGGGGGGC	6	70990705	70990725	A	ACCGGGGGGC	COL9A1	c.905_912+1dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70990717_70990725dup	VUS	1 lab	d54e023abe
9:130581940 ENG C>T	9	130581940	130581940	C	T	ENG	c.1273-1G>A	NM_001114753.3	NP_001108225.1:p.?	NC_000009.11:g.130581940C>T	(Likely) pathogenic	1 lab	d54f647322
17:62492832 POLG2 C>G	17	62492832	62492832	C	G	POLG2	c.255G>C	NM_007215.4	NP_009146.2:p.(Gln85His)	NC_000017.10:g.62492832C>G	(Likely) benign	1 lab	d54f975bf0
1:200619549 DDX59 T>A	1	200619549	200619549	T	A	DDX59	c.1314+4A>T	NM_001031725.6	NP_001026895.2:p.?	NC_000001.10:g.200619549T>A	VUS	1 lab	d54fb67687
3:121981081 CASR A>T	3	121981081	121981081	A	T	CASR	c.1199A>T	NM_000388.4	NP_000379.3:p.(Asn400Ile)	NC_000003.11:g.121981081A>T	(Likely) benign	1 lab	d5500656c9
16:89350598 ANKRD11 C>G	16	89350598	89350598	C	G	ANKRD11	c.2352G>C	NM_013275.6	NP_037407.4:p.(Glu784Asp)	NC_000016.9:g.89350598C>G	VUS	1 lab	d5517a5f00
19:48735710 CARD8 C>T	19	48735710	48735710	C	T	CARD8	c.391G>A	NM_001184900.3	NP_001171829.1:p.(Gly131Arg)	NC_000019.9:g.48735710C>T	VUS	1 lab	d553895a7f
3:184073238 CLCN2 G>C	3	184073238	184073238	G	C	CLCN2	c.1250C>G	NM_004366.6	NP_004357.3:p.(Pro417Arg)	NC_000003.11:g.184073238G>C	VUS	1 lab	d555d0ecfe
7:48411985 ABCA13 C>CT	7	48411985	48411986	C	CT	ABCA13	c.11025dup	NM_152701.5	NP_689914.3:p.(Asn3676Ter)	NC_000007.13:g.48411986dup	VUS	1 lab	d556054c78
17:38975103 KRT10 A>AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	17	38975103	38975146	A	AGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	KRT10	c.1654_1683dup	NM_000421.5	NP_000412.4:p.(Gly556_Gly565dup)	NC_000017.10:g.38975117_38975146dup	(Likely) benign	1 lab	d55695dfa4
22:30767724 CCDC157 G>A	22	30767724	30767724	G	A	CCDC157	c.1123+8G>A	NM_001017437.5	NP_001017437.3:p.?	NC_000022.10:g.30767724G>A	VUS	1 lab	d556b260bd
2:100729188 AFF3 A>G	2	100729188	100729188	A	G	AFF3	c.-144-7143T>C	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100729188A>G	(Likely) benign	1 lab	d5597e33c1
12:66725027 HELB C>G	12	66725027	66725027	C	G	HELB	c.2764C>G	NM_001370285.1	NP_001357214.1:p.(Arg922Gly)	NC_000012.11:g.66725027C>G	VUS	1 lab	d559b1d55a
14:92409297 FBLN5 G>A	14	92409297	92409297	G	A	FBLN5	c.26C>T	NM_006329.4	NP_006320.2:p.(Thr9Ile)	NC_000014.8:g.92409297G>A	VUS	1 lab	d559f336ec
5:14488010 TRIO G>A	5	14488010	14488010	G	A	TRIO	c.7273G>A	NM_007118.4	NP_009049.2:p.(Ala2425Thr)	NC_000005.9:g.14488010G>A	(Likely) benign	1 lab	d55a2ebbb2
2:220423091 OBSL1 G>A	2	220423091	220423091	G	A	OBSL1	c.3317C>T	NM_015311.3	NP_056126.1:p.(Ala1106Val)	NC_000002.11:g.220423091G>A	VUS	1 lab	d55b6b5191
21:47552277 COL6A2 G>A	21	47552277	47552277	G	A	COL6A2	c.2871G>A	NM_001849.4	NP_001840.3:p.(Leu957=)	NC_000021.8:g.47552277G>A	(Likely) benign	1 lab	d55d3b1852
16:354353 AXIN1 G>A	16	354353	354353	G	A	AXIN1	c.1205C>T	NM_003502.4	NP_003493.1:p.(Thr402Met)	NC_000016.9:g.354353G>A	VUS	1 lab	d5b24d7c1e
15:89386653 ACAN G>A	15	89386653	89386653	G	A	ACAN	c.825G>A	NM_001369268.1	NP_001356197.1:p.(Arg275=)	NC_000015.9:g.89386653G>A	(Likely) benign	1 lab	d55dcf4d02
16:2141846 PKD1 G>A	16	2141846	2141846	G	A	PKD1	c.11473C>T	NM_001009944.3	NP_001009944.3:p.(Leu3825=)	NC_000016.9:g.2141846G>A	(Likely) benign	1 lab	d55e62c56c
17:7802504 CHD3 A>G	17	7802504	7802504	A	G	CHD3	c.2504A>G	NM_001005271.3	NP_001005271.2:p.(Tyr835Cys)	NC_000017.10:g.7802504A>G	(Likely) benign	1 lab	2c006bd70c
13:93879837 GPC6 G>C	13	93879837	93879837	G	C	GPC6	c.128G>C	NM_005708.5	NP_005699.1:p.(Ser43Thr)	NC_000013.10:g.93879837G>C	(Likely) benign	1 lab	d55ed4195e
15:42579949 GANC G>A	15	42579949	42579949	G	A	GANC	c.262G>A	NM_198141.3	NP_937784.2:p.(Glu88Lys)	NC_000015.9:g.42579949G>A	VUS	1 lab	d55f5693f6
12:22028637 ABCC9 C>T	12	22028637	22028637	C	T	ABCC9	c.2043G>A	NM_020297.4	NP_064693.2:p.(Trp681Ter)	NC_000012.11:g.22028637C>T	VUS	1 lab	d55f7450b4
2:112543056 ANAPC1 T>C	2	112543056	112543056	T	C	ANAPC1	c.4800-2A>G	NM_022662.4	NP_073153.1:p.?	NC_000002.11:g.112543056T>C	VUS	1 lab	d56030353a
16:30997051 HSD3B7 C>A	16	30997051	30997051	C	A	HSD3B7	c.72C>A	NM_025193.4	NP_079469.2:p.(His24Gln)	NC_000016.9:g.30997051C>A	VUS	1 lab	d560cb7c0c
14:50768885 L2HGDH A>T	14	50768885	50768885	A	T	L2HGDH	c.258T>A	NM_024884.3	NP_079160.1:p.(Ala86=)	NC_000014.8:g.50768885A>T	VUS	1 lab	d562543ea5
9:15423106 SNAPC3 G>C	9	15423106	15423106	G	C	SNAPC3	c.229G>C	NM_001039697.2	NP_001034786.1:p.(Ala77Pro)	NC_000009.11:g.15423106G>C	(Likely) benign	1 lab	d565551e33
6:117248275 RFX6 C>G	6	117248275	117248275	C	G	RFX6	c.1971C>G	NM_173560.4	NP_775831.2:p.(Asn657Lys)	NC_000006.11:g.117248275C>G	VUS	1 lab	d565f10fd7
7:50537838 DDC C>T	7	50537838	50537838	C	T	DDC	c.1073G>A	NM_001082971.2	NP_001076440.2:p.(Arg358His)	NC_000007.13:g.50537838C>T	(Likely) pathogenic	1 lab	d58470de64
3:119205780 POGLUT1 G>GATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT	3	119205780	119205781	G	GATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT	POGLUT1	c.738+1_738+2insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT	NM_152305.3	NP_689518.1:p.?	NC_000003.11:g.119205780_119205781insATACCTTAGGAAAGCCAGCTGCTAAGGATGTCCATCTTGTGGATCACTGCAAATACAAGTATCTGTT	VUS	1 lab	d565ff6412
12:123345066 HIP1R C>A	12	123345066	123345066	C	A	HIP1R	c.2656C>A	NM_003959.3	NP_003950.1:p.(Leu886Met)	NC_000012.11:g.123345066C>A	(Likely) benign	1 lab	d565ffd8ba
13:77785390 MYCBP2 C>T	13	77785390	77785390	C	T	MYCBP2	c.3328G>A	NM_015057.5	NP_055872.4:p.(Gly1110Arg)	NC_000013.10:g.77785390C>T	VUS	1 lab	d566bff753
2:241987734 SNED1 G>A	2	241987734	241987734	G	A	SNED1	c.1276G>A	NM_001080437.3	NP_001073906.1:p.(Asp426Asn)	NC_000002.11:g.241987734G>A	VUS	1 lab	d5687631b7
11:66003842 PACS1 C>T	11	66003842	66003842	C	T	PACS1	c.2250+431C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.66003842C>T	(Likely) benign	1 lab	d5691128c5
8:22022952 BMP1 G>C	8	22022952	22022952	G	C	BMP1	c.34G>C	NM_006129.5	NP_006120.1:p.(Gly12Arg)	NC_000008.10:g.22022952G>C	(Likely) pathogenic	1 lab	d56a6c27f3
2:179595411 TTN A>C	2	179595411	179595411	A	C	TTN	c.17849T>G	NM_001267550.2	NP_001254479.2:p.(Ile5950Ser)	NC_000002.11:g.179595411A>C	VUS	1 lab	d56b36a645
21:38302691 HLCS G>A	21	38302691	38302691	G	A	HLCS	c.1480C>T	NM_001352514.2	NP_001339443.1:p.(Pro494Ser)	NC_000021.8:g.38302691G>A	VUS	1 lab	d56c1c430b
9:127245261 NR5A1 T>G	9	127245261	127245261	T	G	NR5A1	c.1162A>C	NM_004959.5	NP_004950.2:p.(Ile388Leu)	NC_000009.11:g.127245261T>G	(Likely) benign	1 lab	d56d4c9563
10:61833365 ANK3 C>G	10	61833365	61833365	C	G	ANK3	c.7274G>C	NM_020987.5	NP_066267.2:p.(Ser2425Thr)	NC_000010.10:g.61833365C>G	VUS	1 lab	d56d6d937b
12:31256598 DDX11 C>T	12	31256598	31256598	C	T	DDX11	c.2624C>T	NM_030653.4	NP_085911.2:p.(Pro875Leu)	NC_000012.11:g.31256598C>T	VUS	1 lab	d56e4125de
4:191003161 MISSING G>A	4	191003161	191003161	G	A	MISSING				NC_000004.11:g.191003161G>A	VUS	1 lab	d56f1035c8
1:204124169 REN C>T	1	204124169	204124169	C	T	REN	c.1196G>A	NM_000537.4	NP_000528.1:p.(Arg399His)	NC_000001.10:g.204124169C>T	VUS	1 lab	d57270ee6d
14:70496969 SMOC1 C>T	14	70496969	70496969	C	T	SMOC1	c.1302C>T	NM_001034852.3	NP_001030024.1:p.(Leu434=)	NC_000014.8:g.70496969C>T	VUS	1 lab	d588c0ec2c
15:41865310 TYRO3 G>GCTGGCAGAGGACATGACATTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACAGTGGGGAC	15	41865310	41865311	G	GCTGGCAGAGGACATGACATTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACAGTGGGGAC	TYRO3	c.1985+1_1985+2insCTGGCAGAGGACATGACATTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACAGTGGGGAC	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41865310_41865311insCTGGCAGAGGACATGACATTGTGTGTGGCTGACTTCGGACTCTCCCGGAAGATCTACAGTGGGGAC	VUS	1 lab	d572d66072
18:10705632 PIEZO2 C>T	18	10705632	10705632	C	T	PIEZO2	c.5701G>A	NM_001378183.1	NP_001365112.1:p.(Glu1901Lys)	NC_000018.9:g.10705632C>T	VUS	1 lab	d5761eaa99
11:71668317 RNF121 G>A	11	71668317	71668317	G	A	RNF121	c.101+7G>A	NM_018320.5	NP_060790.2:p.?	NC_000011.9:g.71668317G>A	(Likely) benign	1 lab	d5783ed806
1:205180588 DSTYK C>G	1	205180588	205180588	C	G	DSTYK	c.76G>C	NM_015375.3	NP_056190.1:p.(Glu26Gln)	NC_000001.10:g.205180588C>G	VUS	1 lab	d579e97b64
1:2938357 ACTRT2 G>C	1	2938357	2938357	G	C	ACTRT2	c.107G>C	NM_080431.5	NP_536356.3:p.(Ser36Thr)	NC_000001.10:g.2938357G>C	(Likely) benign	1 lab	d57c762467
15:99467840 IGF1R C>T	15	99467840	99467840	C	T	IGF1R	c.2709C>T	NM_000875.5	NP_000866.1:p.(Ala903=)	NC_000015.9:g.99467840C>T	(Likely) benign	1 lab	d57e35a923
X:9862579 SHROOM2 G>A	X	9862579	9862579	G	A	SHROOM2	c.631G>A	NM_001649.4	NP_001640.1:p.(Gly211Ser)	NC_000023.10:g.9862579G>A	VUS	1 lab	d57e7bf98e
18:20562306 RBBP8 G>A	18	20562306	20562306	G	A	RBBP8	c.554G>A	NM_002894.3	NP_002885.1:p.(Arg185Gln)	NC_000018.9:g.20562306G>A	VUS	1 lab	d57f04ebf9
2:3469449 TRAPPC12 G>A	2	3469449	3469449	G	A	TRAPPC12	c.1759G>A	NM_016030.6	NP_057114.5:p.(Gly587Ser)	NC_000002.11:g.3469449G>A	(Likely) benign	1 lab	d58024805c
22:40757554 ADSL C>T	22	40757554	40757554	C	T	ADSL	c.925C>T	NM_000026.4	NP_000017.1:p.(Arg309Cys)	NC_000022.10:g.40757554C>T	VUS	1 lab	d5802c817c
18:59828417 PIGN T>C	18	59828417	59828417	T	C	PIGN	c.170A>G	NM_176787.5	NP_789744.1:p.(Asp57Gly)	NC_000018.9:g.59828417T>C	VUS	1 lab	d5819bb92b
14:103188739 RCOR1 G>T	14	103188739	103188739	G	T	RCOR1	c.1405G>T	NM_015156.4	NP_055971.2:p.(Glu469Ter)	NC_000014.8:g.103188739G>T	VUS	1 lab	d582e77db4
10:17659337 HACD1 A>G	10	17659337	17659337	A	G	HACD1	c.2T>C	NM_014241.4	NP_055056.3:p.(Met1?)	NC_000010.10:g.17659337A>G	VUS	1 lab	d5f4ac3256
5:149771660 TCOF1 T>G	5	149771660	149771660	T	G	TCOF1	c.3438T>G	NM_001371623.1	NP_001358552.1:p.(Ser1146Arg)	NC_000005.9:g.149771660T>G	(Likely) benign	1 lab	d5831b6890
11:73811597 C2CD3 G>T	11	73811597	73811597	G	T	C2CD3	c.2705C>A	NM_001286577.2	NP_001273506.1:p.(Pro902His)	NC_000011.9:g.73811597G>T	VUS	1 lab	d584079ae0
14:74759012 ABCD4 C>T	14	74759012	74759012	C	T	ABCD4	c.1096G>A	NM_005050.4	NP_005041.1:p.(Glu366Lys)	NC_000014.8:g.74759012C>T	VUS	1 lab	d589f302e0
5:125919671 ALDH7A1 G>A	5	125919671	125919671	G	A	ALDH7A1	c.346C>T	NM_001182.5	NP_001173.2:p.(Gln116Ter)	NC_000005.9:g.125919671G>A	(Likely) pathogenic	1 lab	2e0eb260b1
19:18896762 COMP G>C	19	18896762	18896762	G	C	COMP	c.1489+13C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896762G>C	(Likely) benign	1 lab	d58ce0adab
4:1806220 FGFR3 G>C	4	1806220	1806220	G	C	FGFR3	c.1239G>C	NM_000142.5	NP_000133.1:p.(Lys413Asn)	NC_000004.11:g.1806220G>C	VUS	1 lab	d58e7d17c1
X:130678940 OR13H1 G>A	X	130678940	130678940	G	A	OR13H1	c.893G>A	NM_001004486.1	NP_001004486.1:p.(Arg298Gln)	NC_000023.10:g.130678940G>A	(Likely) benign	1 lab	d58f8b8824
3:13860664 WNT7A T>C	3	13860664	13860664	T	C	WNT7A	c.827A>G	NM_004625.4	NP_004616.2:p.(Asn276Ser)	NC_000003.11:g.13860664T>C	VUS	1 lab	d59036a5cc
4:109784528 COL25A1 C>T	4	109784528	109784528	C	T	COL25A1	c.1099G>A	NM_198721.4	NP_942014.1:p.(Ala367Thr)	NC_000004.11:g.109784528C>T	VUS	1 lab	d5917715aa
16:88909241 GALNS C>T	16	88909241	88909241	C	T	GALNS	c.121-4G>A	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909241C>T	(Likely) benign	1 lab	d592d35d6c
15:23890927 MAGEL2 A>G	15	23890927	23890927	A	G	MAGEL2	c.1963T>C	NM_019066.5	NP_061939.3:p.(Ser655Pro)	NC_000015.9:g.23890927A>G	(Likely) benign	1 lab	d59334675b
X:152914878 DUSP9 T>G	X	152914878	152914878	T	G	DUSP9	c.565T>G	NM_001318503.2	NP_001305432.1:p.(Ser189Ala)	NC_000023.10:g.152914878T>G	VUS	1 lab	d596a81f5b
19:38937202 RYR1 G>A	19	38937202	38937202	G	A	RYR1	c.722G>A	NM_000540.3	NP_000531.2:p.(Arg241His)	NC_000019.9:g.38937202G>A	VUS	1 lab	d59812948f
20:18491646 SEC23B A>G	20	18491646	18491646	A	G	SEC23B	c.167A>G	NM_006363.6	NP_006354.2:p.(Tyr56Cys)	NC_000020.10:g.18491646A>G	(Likely) benign	1 lab	d5981f0ed1
7:92731698 SAMD9 A>C	7	92731698	92731698	A	C	SAMD9	c.3713T>G	NM_017654.4	NP_060124.2:p.(Ile1238Ser)	NC_000007.13:g.92731698A>C	(Likely) benign	1 lab	d59a476917
5:90111593 ADGRV1 T>C	5	90111593	90111593	T	C	ADGRV1	c.16196+40T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111593T>C	(Likely) benign	1 lab	2e0fe95898
13:110835373 COL4A1 C>G	13	110835373	110835373	C	G	COL4A1	c.2062G>C	NM_001845.6	NP_001836.3:p.(Gly688Arg)	NC_000013.10:g.110835373C>G	(Likely) pathogenic	1 lab	d59b44b904
X:154156945 F8 G>A	X	154156945	154156945	G	A	F8	c.5120C>T	NM_000132.4	NP_000123.1:p.(Pro1707Leu)	NC_000023.10:g.154156945G>A	(Likely) benign	1 lab	d59b496e5c
20:45003195 ELMO2 G>A	20	45003195	45003195	G	A	ELMO2	c.1150C>T	NM_133171.5	NP_573403.1:p.(His384Tyr)	NC_000020.10:g.45003195G>A	VUS	1 lab	d59c412101
16:28508224 APOBR C>G	16	28508224	28508224	C	G	APOBR	c.1862C>G	NM_018690.4	NP_061160.3:p.(Pro621Arg)	NC_000016.9:g.28508224C>G	VUS	1 lab	d59d322650
2:48033708 MSH6 A>C	2	48033708	48033708	A	C	MSH6	c.3919A>C	NM_000179.3	NP_000170.1:p.(Asn1307His)	NC_000002.11:g.48033708A>C	VUS	1 lab	d59e1e6c25
19:17449443 GTPBP3 G>A	19	17449443	17449443	G	A	GTPBP3	c.484G>A	NM_032620.4	NP_116009.2:p.(Ala162Thr)	NC_000019.9:g.17449443G>A	(Likely) benign	1 lab	d59f7e8955
2:27861838 GPN1 C>T	2	27861838	27861838	C	T	GPN1	c.657C>T	NM_007266.4	NP_009197.3:p.(Tyr219=)	NC_000002.11:g.27861838C>T	VUS	1 lab	d5a0963d79
8:8234603 PRAG1 C>T	8	8234603	8234603	C	T	PRAG1	c.1322G>A	NM_001080826.3	NP_001074295.2:p.(Gly441Asp)	NC_000008.10:g.8234603C>T	(Likely) benign	1 lab	d5a12e2c6c
2:145147038 ZEB2 T>C	2	145147038	145147038	T	C	ZEB2	c.3625A>G	NM_014795.4	NP_055610.1:p.(Asn1209Asp)	NC_000002.11:g.145147038T>C	(Likely) benign	1 lab	d5a1b0b0ef
4:114295910 ANK2 C>T	4	114295910	114295910	C	T	ANK2	c.11859+1305C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114295910C>T	VUS	1 lab	d5a1f696e5
14:51223604 NIN G>C	14	51223604	51223604	G	C	NIN	c.4144C>G	NM_020921.4	NP_065972.4:p.(His1382Asp)	NC_000014.8:g.51223604G>C	(Likely) benign	1 lab	d5a390a498
17:7097021 DLG4 G>A	17	7097021	7097021	G	A	DLG4	c.1556C>T	NM_001321075.3	NP_001308004.1:p.(Ser519Leu)	NC_000017.10:g.7097021G>A	(Likely) benign	1 lab	d5a57eb953
4:73935061 COX18 T>G	4	73935061	73935061	T	G	COX18	c.306A>C	NM_001297732.2	NP_001284661.1:p.(Ala102=)	NC_000004.11:g.73935061T>G	(Likely) benign	1 lab	d5a7a2a00e
11:61111733 TKFC C>T	11	61111733	61111733	C	T	TKFC	c.1228C>T	NM_015533.4	NP_056348.2:p.(Arg410Cys)	NC_000011.9:g.61111733C>T	(Likely) benign	1 lab	d5a9d779bb
2:220085180 ATG9A G>A	2	220085180	220085180	G	A	ATG9A	c.2515-6C>T	NM_001077198.3	NP_001070666.1:p.?	NC_000002.11:g.220085180G>A	(Likely) benign	1 lab	2c0a5ec679
5:45267183 HCN1 T>TA	5	45267183	45267184	T	TA	HCN1	c.1783+7dup	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45267184dup	(Likely) benign	1 lab	d5acb2985f
21:47422550 COL6A1 C>T	21	47422550	47422550	C	T	COL6A1	c.2360C>T	NM_001848.3	NP_001839.2:p.(Ser787Leu)	NC_000021.8:g.47422550C>T	VUS	1 lab	d5ad5cd0ff
12:113601083 DDX54 GCAGA>G	12	113601083	113601087	GCAGA	G	DDX54	c.1939-8_1939-5del	NM_024072.4	NP_076977.3:p.?	NC_000012.11:g.113601084_113601087del	(Likely) benign	1 lab	d5ae4b1bc3
4:16168306 TAPT1 G>A	4	16168306	16168306	G	A	TAPT1	c.1424C>T	NM_153365.3	NP_699196.2:p.(Thr475Ile)	NC_000004.11:g.16168306G>A	(Likely) benign	1 lab	d5ae4eac6d
16:2143649 PKD1 G>A	16	2143649	2143649	G	A	PKD1	c.10912C>T	NM_001009944.3	NP_001009944.3:p.(Pro3638Ser)	NC_000016.9:g.2143649G>A	VUS	1 lab	d5b100efe1
20:50408396 SALL4 T>G	20	50408396	50408396	T	G	SALL4	c.626A>C	NM_020436.5	NP_065169.1:p.(Asn209Thr)	NC_000020.10:g.50408396T>G	VUS	1 lab	d5b164e926
5:171318487 FBXW11 C>T	5	171318487	171318487	C	T	FBXW11	c.836G>A	NM_001378974.1	NP_001365903.1:p.(Arg279Gln)	NC_000005.9:g.171318487C>T	VUS	1 lab	d5b1b575fa
X:46388323 ZNF674 C>T	X	46388323	46388323	C	T	ZNF674	c.37G>A	NM_001190417.2	NP_001177346.1:p.(Val13Met)	NC_000023.10:g.46388323C>T	VUS	1 lab	d5b1c02771
1:186059892 HMCN1 C>T	1	186059892	186059892	C	T	HMCN1	c.9730C>T	NM_031935.3	NP_114141.2:p.(Pro3244Ser)	NC_000001.10:g.186059892C>T	VUS	1 lab	d5b1ebb571
5:32093082 PDZD2 G>T	5	32093082	32093082	G	T	PDZD2	c.7797G>T	NM_178140.4	NP_835260.2:p.(Ser2599=)	NC_000005.9:g.32093082G>T	(Likely) benign	1 lab	d5b30fc2e4
2:54871655 SPTBN1 A>T	2	54871655	54871655	A	T	SPTBN1	c.4201A>T	NM_003128.3	NP_003119.2:p.(Ser1401Cys)	NC_000002.11:g.54871655A>T	VUS	1 lab	d5b45e0ce4
5:1414895 SLC6A3 G>A	5	1414895	1414895	G	A	SLC6A3	c.1067C>T	NM_001044.5	NP_001035.1:p.(Thr356Met)	NC_000005.9:g.1414895G>A	VUS	1 lab	d5b61ed55d
17:5485195 NLRP1 T>G	17	5485195	5485195	T	G	NLRP1	c.636A>C	NM_033004.4	NP_127497.1:p.(Ser212=)	NC_000017.10:g.5485195T>G	(Likely) benign	1 lab	2e124b2af0
X:135741400 CD40LG C>G	X	135741400	135741400	C	G	CD40LG	c.612C>G	NM_000074.3	NP_000065.1:p.(Ile204Met)	NC_000023.10:g.135741400C>G	VUS	1 lab	2c0b0bce46
11:88027665 CTSC C>T	11	88027665	88027665	C	T	CTSC	c.901G>A	NM_001814.6	NP_001805.4:p.(Gly301Ser)	NC_000011.9:g.88027665C>T	(Likely) pathogenic	1 lab	d5ba62b2ab
16:2523933 NTN3 C>A	16	2523933	2523933	C	A	NTN3	c.1570C>A	NM_006181.3	NP_006172.1:p.(Arg524Ser)	NC_000016.9:g.2523933C>A	(Likely) benign	1 lab	d5baaebac5
4:1803269 FGFR3 C>A	4	1803269	1803269	C	A	FGFR3	c.615+6C>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803269C>A	(Likely) benign	1 lab	d5bb6d55ce
8:145004376 PLEC C>T	8	145004376	145004376	C	T	PLEC	c.2548G>A	NM_201384.3	NP_958786.1:p.(Ala850Thr)	NC_000008.10:g.145004376C>T	(Likely) benign	1 lab	d5bc0481ca
12:48375163 COL2A1 G>A	12	48375163	48375163	G	A	COL2A1	c.2426C>T	NM_001844.5	NP_001835.3:p.(Pro809Leu)	NC_000012.11:g.48375163G>A	VUS	1 lab	d5bf26bfa2
6:33419615 SYNGAP1 G>C	6	33419615	33419615	G	C	SYNGAP1	c.3964G>C	NM_006772.3	NP_006763.2:p.(Ala1322Pro)	NC_000006.11:g.33419615G>C	(Likely) benign	1 lab	d5bf59216b
5:130535243 LYRM7 C>A	5	130535243	130535243	C	A	LYRM7	c.264C>A	NM_181705.4	NP_859056.2:p.(Asp88Glu)	NC_000005.9:g.130535243C>A	VUS	1 lab	d5c02a6a56
13:28498435 PDX1 G>T	13	28498435	28498435	G	T	PDX1	c.449G>T	NM_000209.4	NP_000200.1:p.(Arg150Leu)	NC_000013.10:g.28498435G>T	VUS	1 lab	d5c1a49f1d
2:227660628 IRS1 T>G	2	227660628	227660628	T	G	IRS1	c.2827A>C	NM_005544.3	NP_005535.1:p.(Lys943Gln)	NC_000002.11:g.227660628T>G	VUS	1 lab	d5c1cb1bd3
17:78013825 CCDC40 C>T	17	78013825	78013825	C	T	CCDC40	c.308C>T	NM_017950.4	NP_060420.2:p.(Pro103Leu)	NC_000017.10:g.78013825C>T	VUS	1 lab	d5c2adb2bb
11:47350635 MADD G>T	11	47350635	47350635	G	T	MADD	c.4887G>T	NM_001376571.1	NP_001363500.1:p.(Ser1629=)	NC_000011.9:g.47350635G>T	(Likely) benign	1 lab	d5c4f530a3
11:108200987 ATM C>G	11	108200987	108200987	C	G	ATM	c.7354C>G	NM_000051.4	NP_000042.3:p.(Leu2452Val)	NC_000011.9:g.108200987C>G	VUS	1 lab	d5c616ffa8
X:152845719 ATP2B3 C>A	X	152845719	152845719	C	A	ATP2B3	c.3626C>A	NM_001001344.2	NP_001001344.1:p.(Pro1209His)	NC_000023.10:g.152845719C>A	(Likely) benign	1 lab	2c0c656d1c
11:22647209 FANCF G>A	11	22647209	22647209	G	A	FANCF	c.148C>T	NM_022725.4	NP_073562.1:p.(Arg50Trp)	NC_000011.9:g.22647209G>A	(Likely) benign	1 lab	d5c846e2f6
5:73045740 ARHGEF28 G>C	5	73045740	73045740	G	C	ARHGEF28	c.112G>C	NM_001177693.2	NP_001171164.1:p.(Gly38Arg)	NC_000005.9:g.73045740G>C	VUS	1 lab	d5c9a6d07a
16:3900803 CREBBP C>A	16	3900803	3900803	C	A	CREBBP	c.293G>T	NM_004380.3	NP_004371.2:p.(Gly98Val)	NC_000016.9:g.3900803C>A	(Likely) benign	1 lab	2c11a6e00b
16:88779319 CTU2 GCCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC>G	16	88779319	88779365	GCCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGC	G	CTU2	c.737+10_737+52del	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88779323_88779365del	(Likely) benign	1 lab	d5ca11b468
2:86317034 POLR1A C>T	2	86317034	86317034	C	T	POLR1A	c.451G>A	NM_015425.6	NP_056240.2:p.(Asp151Asn)	NC_000002.11:g.86317034C>T	VUS	1 lab	d5cb7bb7ca
18:48513060 ELAC1 A>G	18	48513060	48513060	A	G	ELAC1	c.697A>G	NM_018696.3	NP_061166.1:p.(Ile233Val)	NC_000018.9:g.48513060A>G	VUS	1 lab	d5cbc71714
1:41979359 HIVEP3 G>A	1	41979359	41979359	G	A	HIVEP3	c.5533C>T	NM_024503.5	NP_078779.2:p.(His1845Tyr)	NC_000001.10:g.41979359G>A	VUS	1 lab	d5ccd9157c
12:121434371 HNF1A CCT>C	12	121434371	121434373	CCT	C	HNF1A	c.1136_1137del	NM_000545.8	NP_000536.6:p.(Pro379ArgfsTer39)	NC_000012.11:g.121434372_121434373del	(Likely) pathogenic	1 lab	d5ce7d0e65
X:106069445 TBC1D8B G>A	X	106069445	106069445	G	A	TBC1D8B	c.1013G>A	NM_017752.3	NP_060222.2:p.(Ser338Asn)	NC_000023.10:g.106069445G>A	(Likely) benign	1 lab	d5d2ba4f44
9:140128864 SLC34A3 A>C	9	140128864	140128864	A	C	SLC34A3	c.1094-4A>C	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140128864A>C	VUS	1 lab	d5d338aa21
16:21069511 DNAH3 G>A	16	21069511	21069511	G	A	DNAH3	c.3682C>T	NM_001347886.2	NP_001334815.1:p.(Arg1228Ter)	NC_000016.9:g.21069511G>A	VUS	1 lab	d5d4e895ba
21:47538979 COL6A2 T>C	21	47538979	47538979	T	C	COL6A2	c.1215T>C	NM_001849.4	NP_001840.3:p.(Pro405=)	NC_000021.8:g.47538979T>C	(Likely) benign	1 lab	d5d5f3181c
X:49127258 PPP1R3F A>G	X	49127258	49127258	A	G	PPP1R3F	c.926A>G	NM_033215.5	NP_149992.3:p.(Glu309Gly)	NC_000023.10:g.49127258A>G	VUS	1 lab	d5d6def46f
3:122003928 CASR G>A	3	122003928	122003928	G	A	CASR	c.3127G>A	NM_000388.4	NP_000379.3:p.(Glu1043Lys)	NC_000003.11:g.122003928G>A	VUS	1 lab	d5d9a75282
10:88476182 LDB3 G>C	10	88476182	88476182	G	C	LDB3	c.1330G>C	NM_007078.3	NP_009009.1:p.(Ala444Pro)	NC_000010.10:g.88476182G>C	(Likely) benign	1 lab	d5d9aec854
22:18304912 MICAL3 G>A	22	18304912	18304912	G	A	MICAL3	c.3332C>T	NM_015241.3	NP_056056.2:p.(Ser1111Leu)	NC_000022.10:g.18304912G>A	VUS	1 lab	d5db9176e7
10:112348964 SMC3 G>A	10	112348964	112348964	G	A	SMC3	c.1306-399G>A	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112348964G>A	(Likely) benign	1 lab	d5db9237e2
12:112926288 PTPN11 T>C	12	112926288	112926288	T	C	PTPN11	c.1421T>C	NM_002834.5	NP_002825.3:p.(Ile474Thr)	NC_000012.11:g.112926288T>C	VUS	1 lab	d5dc2c4cec
1:2235542 SKI G>A	1	2235542	2235542	G	A	SKI	c.1474+1G>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2235542G>A	VUS	1 lab	d5ded5771a
10:99361747 HOGA1 G>A	10	99361747	99361747	G	A	HOGA1	c.834G>A	NM_138413.4	NP_612422.2:p.(Ala278=)	NC_000010.10:g.99361747G>A	(Likely) pathogenic	1 lab	2e1530ec23
X:153492708 OPN1MW2 A>C	X	153492708	153492708	A	C	OPN1MW2	c.457A>C	NM_001048181.3	NP_001041646.1:p.(Met153Leu)	NC_000023.10:g.153492708A>C	VUS	1 lab	d5e12e85d4
4:126336025 FAT4 C>T	4	126336025	126336025	C	T	FAT4				NC_000004.11:g.126336025C>T	(Likely) benign	1 lab	2e19120263
12:133245405 POLE G>A	12	133245405	133245405	G	A	POLE	c.1915C>T	NM_006231.4	NP_006222.2:p.(Arg639Cys)	NC_000012.11:g.133245405G>A	VUS	1 lab	d5e1fcc747
3:9957012 IL17RE G>A	3	9957012	9957012	G	A	IL17RE	c.1525G>A	NM_153480.2	NP_705613.1:p.(Ala509Thr)	NC_000003.11:g.9957012G>A	VUS	1 lab	d5e20d395d
5:131931451 RAD50 TA>T	5	131931451	131931460	TA	T	RAD50	c.2165del	NM_005732.4	NP_005723.2:p.(Lys722ArgfsTer14)	NC_000005.9:g.131931460del	(Likely) pathogenic	1 lab	d5e26188d3
2:36785632 FEZ2 C>G	2	36785632	36785632	C	G	FEZ2	c.928G>C	NM_005102.3	NP_005093.2:p.(Glu310Gln)	NC_000002.11:g.36785632C>G	(Likely) benign	1 lab	d5e467c7ac
13:32849043 FRY G>A	13	32849043	32849043	G	A	FRY	c.8201G>A	NM_023037.3	NP_075463.2:p.(Arg2734Gln)	NC_000013.10:g.32849043G>A	(Likely) benign	1 lab	d5e486131e
8:145140888 GPAA1 G>A	8	145140888	145140888	G	A	GPAA1	c.1726G>A	NM_003801.4	NP_003792.1:p.(Glu576Lys)	NC_000008.10:g.145140888G>A	VUS	1 lab	d5e5700d39
X:41307098 NYX T>G	X	41307098	41307098	T	G	NYX	c.-41-4T>G	NM_001378477.1	NP_001365406.1:p.?	NC_000023.10:g.41307098T>G	(Likely) benign	1 lab	d5e91e4afd
12:58017626 B4GALNT1 G>A	12	58017626	58017626	G	A	B4GALNT1	c.*2901C>T	NM_001478.5	NP_001469.1:p.?	NC_000012.11:g.58017626G>A	VUS	1 lab	d5e938cfe6
11:118239528 UBE4A C>A	11	118239528	118239528	C	A	UBE4A	c.295+9C>A	NM_001204077.2	NP_001191006.1:p.?	NC_000011.9:g.118239528C>A	(Likely) benign	1 lab	d5ea27f205
14:21836565 SUPT16H C>CA	14	21836565	21836567	C	CA	SUPT16H	c.817dup	NM_007192.4	NP_009123.1:p.(Cys273LeufsTer21)	NC_000014.8:g.21836567dup	VUS	1 lab	d5ec75cb4d
1:145330829 NBPF10 A>G	1	145330829	145330829	A	G	NBPF10	c.4928A>G	NM_001302371.3	NP_001289300.1:p.(His1643Arg)	NC_000001.10:g.145330829A>G	VUS	1 lab	d5ed81bb29
17:28512390 NSRP1 A>C	17	28512390	28512390	A	C	NSRP1	c.1375A>C	NM_032141.4	NP_115517.1:p.(Asn459His)	NC_000017.10:g.28512390A>C	(Likely) benign	1 lab	d5edcccfe5
9:135946596 CEL T>C	9	135946596	135946596	T	C	CEL	c.1707T>C	NM_001807.6	NP_001798.3:p.(Thr569=)	NC_000009.11:g.135946596T>C	(Likely) benign	1 lab	d5ee01c613
15:63000842 TLN2 G>A	15	63000842	63000842	G	A	TLN2	c.2314G>A	NM_015059.3	NP_055874.2:p.(Ala772Thr)	NC_000015.9:g.63000842G>A	(Likely) benign	1 lab	d5ee410be9
1:899789 KLHL17 G>A	1	899789	899789	G	A	KLHL17	c.1579G>A	NM_198317.3	NP_938073.1:p.(Val527Met)	NC_000001.10:g.899789G>A	VUS	1 lab	d5ee4290a1
12:121437391 HNF1A C>G	12	121437391	121437391	C	G	HNF1A	c.1729C>G	NM_000545.8	NP_000536.6:p.(His577Asp)	NC_000012.11:g.121437391C>G	(Likely) benign	1 lab	d5eea4ca88
11:124744135 ROBO3 A>G	11	124744135	124744135	A	G	ROBO3	c.1951+3A>G	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124744135A>G	VUS	1 lab	d5ef5d1264
16:1411805 GNPTG G>T	16	1411805	1411805	G	T	GNPTG	c.233+7G>T	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1411805G>T	(Likely) benign	1 lab	d5ef5e3dfa
11:73670701 DNAJB13 G>A	11	73670701	73670701	G	A	DNAJB13	c.334+1G>A	NM_153614.4	NP_705842.2:p.?	NC_000011.9:g.73670701G>A	VUS	1 lab	d5f02fc74b
5:74949002 ANKDD1B C>G	5	74949002	74949002	C	G	ANKDD1B	c.834C>G	NM_001276713.2	NP_001263642.1:p.(Asn278Lys)	NC_000005.9:g.74949002C>G	(Likely) benign	1 lab	d5f211704e
11:103029685 DYNC2H1 A>G	11	103029685	103029685	A	G	DYNC2H1	c.4307A>G	NM_001377.3	NP_001368.2:p.(Asp1436Gly)	NC_000011.9:g.103029685A>G	VUS	1 lab	d5f2832c94
16:89858890 FANCA G>C	16	89858890	89858890	G	C	FANCA	c.1072C>G	NM_000135.4	NP_000126.2:p.(Leu358Val)	NC_000016.9:g.89858890G>C	VUS	1 lab	d5f300c985
2:79385823 REG3A T>G	2	79385823	79385823	T	G	REG3A	c.149A>C	NM_002580.3	NP_002571.1:p.(His50Pro)	NC_000002.11:g.79385823T>G	(Likely) benign	1 lab	d5f5945b97
17:44248944 KANSL1 T>A	17	44248944	44248944	T	A	KANSL1	c.566A>T	NM_015443.4	NP_056258.1:p.(His189Leu)	NC_000017.10:g.44248944T>A	VUS	1 lab	d5f6b5c746
2:179499303 TTN G>A	2	179499303	179499303	G	A	TTN	c.42205C>T	NM_001267550.1	NP_001254479.1:p.(Arg14069Ter)	NC_000002.11:g.179499303G>A	(Likely) pathogenic	1 lab	2e1b58c158
20:61453455 COL9A3 C>T	20	61453455	61453455	C	T	COL9A3	c.424-8C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61453455C>T	(Likely) benign	1 lab	d5f8e8ed91
3:193343966 OPA1 C>T	3	193343966	193343966	C	T	OPA1	c.764C>T	NM_130837.3	NP_570850.2:p.(Thr255Met)	NC_000003.11:g.193343966C>T	(Likely) benign	1 lab	d5f8f9af5d
12:6184623 VWF TCA>T	12	6184623	6184629	TCA	T	VWF	c.750_751del	NM_000552.5	NP_000543.3:p.(Cys250Ter)	NC_000012.11:g.6184628_6184629del	(Likely) pathogenic	1 lab	2c12c44458
3:189456523 TP63 G>A	3	189456523	189456523	G	A	TP63	c.284G>A	NM_003722.5	NP_003713.3:p.(Cys95Tyr)	NC_000003.11:g.189456523G>A	VUS	1 lab	d5fb49b019
7:677329 PRKAR1B G>A	7	677329	677329	G	A	PRKAR1B	c.441-30240C>T	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.677329G>A	(Likely) benign	1 lab	d5fbced0f1
2:121736158 GLI2 C>T	2	121736158	121736158	C	T	GLI2	c.1466C>T	NM_001374353.1	NP_001361282.1:p.(Thr489Met)	NC_000002.11:g.121736158C>T	VUS	1 lab	d5fccae1cc
7:44192924 GCK C>T	7	44192924	44192924	C	T	GCK	c.184G>A	NM_000162.5	NP_000153.1:p.(Val62Met)	NC_000007.13:g.44192924C>T	(Likely) pathogenic	1 lab	d5fdd7027e
16:67763701 RANBP10 C>A	16	67763701	67763701	C	A	RANBP10	c.1029G>T	NM_020850.3	NP_065901.1:p.(Gly343=)	NC_000016.9:g.67763701C>A	(Likely) benign	1 lab	d6002d5512
17:7813817 CHD3 C>G	17	7813817	7813817	C	G	CHD3	c.5662C>G	NM_001005273.3	NP_001005273.1:p.(Arg1888Gly)	NC_000017.10:g.7813817C>G	(Likely) benign	1 lab	d600a80c7f
19:46328451 SYMPK AC>A	19	46328451	46328453	AC	A	SYMPK	c.2467del	NM_004819.3	NP_004810.2:p.(Val823CysfsTer2)	NC_000019.9:g.46328453del	VUS	1 lab	d6017faf87
6:36343801 ETV7 C>T	6	36343801	36343801	C	T	ETV7	c.154G>A	NM_016135.4	NP_057219.1:p.(Ala52Thr)	NC_000006.11:g.36343801C>T	VUS	1 lab	d601bc3520
16:30976450 SETD1A G>C	16	30976450	30976450	G	C	SETD1A	c.1387G>C	NM_014712.3	NP_055527.1:p.(Ala463Pro)	NC_000016.9:g.30976450G>C	(Likely) benign	1 lab	d60279a027
8:145741895 RECQL4 C>T	8	145741895	145741895	C	T	RECQL4	c.608G>A	NM_004260.4	NP_004251.4:p.(Gly203Glu)	NC_000008.10:g.145741895C>T	VUS	1 lab	d605fc0663
X:123190078 STAG2 T>C	X	123190078	123190078	T	C	STAG2	c.1297T>C	NM_001042750.2	NP_001036215.1:p.(Tyr433His)	NC_000023.10:g.123190078T>C	VUS	1 lab	d606dbf90d
12:106821001 POLR3B G>T	12	106821001	106821001	G	T	POLR3B	c.1128G>T	NM_018082.6	NP_060552.4:p.(Leu376Phe)	NC_000012.11:g.106821001G>T	(Likely) benign	1 lab	d6074dc162
17:2203691 SMG6 T>A	17	2203691	2203691	T	A	SMG6	c.356A>T	NM_017575.5	NP_060045.4:p.(Glu119Val)	NC_000017.10:g.2203691T>A	VUS	1 lab	d6082392cc
1:11187693 MTOR T>C	1	11187693	11187693	T	C	MTOR	c.6204A>G	NM_004958.4	NP_004949.1:p.(Thr2068=)	NC_000001.10:g.11187693T>C	(Likely) benign	1 lab	d60ddf5509
9:133942593 LAMC3 G>A	9	133942593	133942593	G	A	LAMC3	c.2593+1G>A	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133942593G>A	VUS	1 lab	d60f18329a
7:158706972 DYNC2I1 A>T	7	158706972	158706972	A	T	DYNC2I1	c.1751A>T	NM_018051.5	NP_060521.4:p.(Asp584Val)	NC_000007.13:g.158706972A>T	VUS	1 lab	d610c73c17
1:118494677 WDR3 T>G	1	118494677	118494677	T	G	WDR3	c.1882T>G	NM_006784.3	NP_006775.1:p.(Ser628Ala)	NC_000001.10:g.118494677T>G	VUS	1 lab	d612d13ff3
1:17314714 ATP13A2 G>GGAACA	1	17314714	17314720	G	GGAACA	ATP13A2	c.2773_2777dup	NM_022089.4	NP_071372.1:p.(Leu927ValfsTer18)	NC_000001.10:g.17314716_17314720dup	VUS	1 lab	d6131f291c
9:130430424 STXBP1 T>C	9	130430424	130430424	T	C	STXBP1	c.860T>C	NM_003165.6	NP_003156.1:p.(Leu287Pro)	NC_000009.11:g.130430424T>C	(Likely) pathogenic	1 lab	2e1c0ee121
5:157001 PLEKHG4B C>T	5	157001	157001	C	T	PLEKHG4B	c.2462C>T	NM_052909.5	NP_443141.4:p.(Ala821Val)	NC_000005.9:g.157001C>T	VUS	1 lab	d613b85fa3
14:101348158 RTL1 C>T	14	101348158	101348158	C	T	RTL1	c.2968G>A	NM_001134888.3	NP_001128360.1:p.(Gly990Ser)	NC_000014.8:g.101348158C>T	VUS	1 lab	d615be6ea0
15:75189429 MPI C>T	15	75189429	75189429	C	T	MPI	c.922C>T	NM_002435.3	NP_002426.1:p.(Leu308=)	NC_000015.9:g.75189429C>T	(Likely) benign	1 lab	d615c78fd8
4:114279834 ANK2 C>G	4	114279834	114279834	C	G	ANK2	c.10060C>G	NM_001148.6	NP_001139.3:p.(Leu3354Val)	NC_000004.11:g.114279834C>G	VUS	1 lab	d615e523f3
1:3753054 CEP104 T>C	1	3753054	3753054	T	C	CEP104	c.1317+5A>G	NM_014704.4	NP_055519.1:p.?	NC_000001.10:g.3753054T>C	(Likely) benign	1 lab	d615edef68
X:31269130 DMD C>T	X	31269130	31269130	C	T	DMD	c.9286+9942G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31269130C>T	(Likely) benign	1 lab	d6162887a0
3:49160718 LAMB2 A>G	3	49160718	49160718	A	G	LAMB2	c.4071T>C	NM_002292.4	NP_002283.3:p.(Pro1357=)	NC_000003.11:g.49160718A>G	(Likely) benign	1 lab	d61665f7d4
11:6579406 DNHD1 G>A	11	6579406	6579406	G	A	DNHD1	c.8881G>A	NM_144666.3	NP_653267.2:p.(Ala2961Thr)	NC_000011.9:g.6579406G>A	VUS	1 lab	d61742f674
2:74597846 DCTN1 C>T	2	74597846	74597846	C	T	DCTN1	c.950G>A	NM_004082.5	NP_004073.2:p.(Arg317Gln)	NC_000002.11:g.74597846C>T	VUS	1 lab	d61837c90a
17:74155654 RNF157 A>T	17	74155654	74155654	A	T	RNF157	c.1066T>A	NM_052916.3	NP_443148.1:p.(Ser356Thr)	NC_000017.10:g.74155654A>T	(Likely) benign	1 lab	d6185e5ad5
2:20130270 WDR35 GA>G	2	20130270	20130271	GA	G	WDR35	c.3007del	NM_020779.4	NP_065830.2:p.(Ser1003LeufsTer36)	NC_000002.11:g.20130271del	(Likely) pathogenic	1 lab	d61a27019a
6:87965415 ZNF292 A>C	6	87965415	87965415	A	C	ZNF292	c.2068A>C	NM_015021.3	NP_055836.1:p.(Lys690Gln)	NC_000006.11:g.87965415A>C	VUS	1 lab	d61afd4db8
8:74868227 ELOC A>G	8	74868227	74868227	A	G	ELOC	c.67T>C	NM_005648.4	NP_005639.1:p.(Ser23Pro)	NC_000008.10:g.74868227A>G	VUS	1 lab	d61c3836c8
11:64813309 NAALADL1 T>C	11	64813309	64813309	T	C	NAALADL1	c.2021A>G	NM_005468.3	NP_005459.2:p.(Glu674Gly)	NC_000011.9:g.64813309T>C	VUS	1 lab	d631410029
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer43)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	d61d4f2fd7
16:15973653 CEP20 TG>T	16	15973653	15973654	TG	T	CEP20	c.311+7del	NM_144600.4	NP_653201.1:p.?	NC_000016.9:g.15973654del	(Likely) benign	1 lab	d61dd654ef
X:153599533 FLNA C>A	X	153599533	153599533	C	A	FLNA	c.81G>T	NM_001110556.2	NP_001104026.1:p.(Glu27Asp)	NC_000023.10:g.153599533C>A	VUS	1 lab	d621b8a649
13:35735897 NBEA G>T	13	35735897	35735897	G	T	NBEA	c.3872G>T	NM_001385012.1	NP_001371941.1:p.(Gly1291Val)	NC_000013.10:g.35735897G>T	VUS	1 lab	d62328b7e7
4:69433763 UGT2B17 T>A	4	69433763	69433763	T	A	UGT2B17	c.440A>T	NM_001077.4	NP_001068.1:p.(Asp147Val)	NC_000004.11:g.69433763T>A	(Likely) benign	1 lab	d623e65766
5:112176494 APC G>C	5	112176494	112176494	G	C	APC	c.5203G>C	NM_000038.6	NP_000029.2:p.(Gly1735Arg)	NC_000005.9:g.112176494G>C	VUS	1 lab	d6246e82ca
12:121416898 HNF1A G>A	12	121416898	121416898	G	A	HNF1A	c.326+1G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121416898G>A	(Likely) pathogenic	1 lab	d624cbd325
6:31797339 HSPA1B G>A	6	31797339	31797339	G	A	HSPA1B	c.1612G>A	NM_005346.6	NP_005337.2:p.(Ala538Thr)	NC_000006.11:g.31797339G>A	VUS	1 lab	d62886295c
11:117693430 FXYD2 C>T	11	117693430	117693430	C	T	FXYD2	c.28G>A	NM_001680.5	NP_001671.2:p.(Gly10Ser)	NC_000011.9:g.117693430C>T	(Likely) benign	1 lab	d629490eac
19:52034685 SIGLEC6 T>C	19	52034685	52034685	T	C	SIGLEC6	c.156A>G	NM_001245.7	NP_001236.4:p.(Arg52=)	NC_000019.9:g.52034685T>C	VUS	1 lab	d62a53ee2b
1:110603411 ALX3 C>T	1	110603411	110603411	C	T	ALX3	c.976G>A	NM_006492.3	NP_006483.2:p.(Val326Ile)	NC_000001.10:g.110603411C>T	(Likely) benign	1 lab	d62a62fbf2
12:49436365 KMT2D T>C	12	49436365	49436365	T	C	KMT2D	c.5846A>G	NM_003482.4	NP_003473.3:p.(Gln1949Arg)	NC_000012.11:g.49436365T>C	VUS	1 lab	d62b9799e1
1:248129487 OR2AK2 G>A	1	248129487	248129487	G	A	OR2AK2	c.809G>A	NM_001004491.2	NP_001004491.2:p.(Arg270Gln)	NC_000001.10:g.248129487G>A	VUS	1 lab	d62dcabdbc
7:156476837 LMBR1 G>A	7	156476837	156476837	G	A	LMBR1	c.1408C>T	NM_022458.4	NP_071903.2:p.(Pro470Ser)	NC_000007.13:g.156476837G>A	(Likely) benign	1 lab	d63046f7b0
14:20763965 TTC5 G>A	14	20763965	20763965	G	A	TTC5	c.745C>T	NM_138376.3	NP_612385.2:p.(Arg249Trp)	NC_000014.8:g.20763965G>A	VUS	1 lab	d63085deea
6:71004041 COL9A1 CAAG>C	6	71004041	71004044	CAAG	C	COL9A1	c.522_524del	NM_001851.6	NP_001842.3:p.(Leu175del)	NC_000006.11:g.71004042_71004044del	VUS	1 lab	d6325eb98a
10:101371064 SLC25A28 G>A	10	101371064	101371064	G	A	SLC25A28	c.637C>T	NM_031212.4	NP_112489.3:p.(Arg213Trp)	NC_000010.10:g.101371064G>A	VUS	1 lab	d632ec7c4c
1:155112657 DPM3 G>A	1	155112657	155112657	G	A	DPM3	c.60C>T	NM_153741.2	NP_714963.1:p.(Ala20=)	NC_000001.10:g.155112657G>A	(Likely) benign	1 lab	d634e834b6
X:69458190 AWAT1 C>T	X	69458190	69458190	C	T	AWAT1	c.589C>T	NM_001013579.3	NP_001013597.1:p.(Leu197Phe)	NC_000023.10:g.69458190C>T	VUS	1 lab	d635291dc3
1:67581085 C1orf141 C>T	1	67581085	67581085	C	T	C1orf141	c.296G>A	NM_001276351.2	NP_001263280.1:p.(Arg99Lys)	NC_000001.10:g.67581085C>T	(Likely) benign	1 lab	d636a48946
18:72997837 TSHZ1 A>C	18	72997837	72997837	A	C	TSHZ1	c.475A>C	NM_001308210.2	NP_001295139.1:p.(Thr159Pro)	NC_000018.9:g.72997837A>C	(Likely) benign	1 lab	d6390a8244
5:13753568 DNAH5 T>C	5	13753568	13753568	T	C	DNAH5	c.10646A>G	NM_001369.3	NP_001360.1:p.(Glu3549Gly)	NC_000005.9:g.13753568T>C	VUS	1 lab	d639400312
1:77635051 PIGK A>AT	1	77635051	77635052	A	AT	PIGK	c.268dup	NM_005482.3	NP_005473.1:p.(Met90AsnfsTer4)	NC_000001.10:g.77635052dup	VUS	1 lab	d639aee551
5:14280733 TRIO C>T	5	14280733	14280733	C	T	TRIO	c.347+188C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14280733C>T	(Likely) benign	1 lab	d63a2d08fe
2:166774088 TTC21B A>G	2	166774088	166774088	A	G	TTC21B	c.1675-97T>C	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166774088A>G	(Likely) benign	1 lab	2e1e798754
3:47458897 SCAP C>A	3	47458897	47458897	C	A	SCAP	c.2867G>T	NM_012235.4	NP_036367.2:p.(Gly956Val)	NC_000003.11:g.47458897C>A	(Likely) benign	1 lab	d63cb39427
Y:21903616 KDM5D C>T	Y	21903616	21903616	C	T	KDM5D	c.351+5G>A	NM_004653.5	NP_004644.2:p.?	NC_000024.9:g.21903616C>T	VUS	1 lab	d63d1fd441
X:41022105 USP9X G>A	X	41022105	41022105	G	A	USP9X	c.1960G>A	NM_001039591.3	NP_001034680.2:p.(Val654Ile)	NC_000023.10:g.41022105G>A	(Likely) benign	1 lab	d63e73ef3d
1:23381604 KDM1A G>A	1	23381604	23381604	G	A	KDM1A	c.833G>A	NM_001009999.3	NP_001009999.1:p.(Arg278His)	NC_000001.10:g.23381604G>A	VUS	1 lab	d640cbee59
2:70524351 TIMCC A>T	2	70524351	70524351	A	T	TIMCC	c.*70T>A	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524351A>T	VUS	1 lab	d6413005d5
4:1962888 NSD2 A>C	4	1962888	1962888	A	C	NSD2	c.3372+10A>C	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1962888A>C	(Likely) benign	1 lab	d6456cae8d
3:194063376 CPN2 G>A	3	194063376	194063376	G	A	CPN2	c.56C>T	NM_001080513.4	NP_001073982.3:p.(Ala19Val)	NC_000003.11:g.194063376G>A	(Likely) benign	1 lab	d6463ee397
14:105410029 AHNAK2 A>G	14	105410029	105410029	A	G	AHNAK2	c.11759T>C	NM_138420.4	NP_612429.2:p.(Val3920Ala)	NC_000014.8:g.105410029A>G	(Likely) benign	1 lab	d6464fda0c
1:226033040 EPHX1 C>T	1	226033040	226033040	C	T	EPHX1	c.1360C>T	NM_001136018.4	NP_001129490.1:p.(Arg454Trp)	NC_000001.10:g.226033040C>T	VUS	1 lab	d6472358c5
15:34077949 RYR3 G>A	15	34077949	34077949	G	A	RYR3	c.9355G>A	NM_001036.6	NP_001027.3:p.(Glu3119Lys)	NC_000015.9:g.34077949G>A	(Likely) benign	1 lab	d647710cd9
7:150094705 ZNF775 C>G	7	150094705	150094705	C	G	ZNF775	c.1136C>G	NM_173680.4	NP_775951.2:p.(Ala379Gly)	NC_000007.13:g.150094705C>G	(Likely) benign	1 lab	d64914c14a
1:27106297 ARID1A C>T	1	27106297	27106297	C	T	ARID1A	c.5908C>T	NM_006015.6	NP_006006.3:p.(Leu1970Phe)	NC_000001.10:g.27106297C>T	(Likely) benign	1 lab	d649822299
2:27706205 IFT172 C>A	2	27706205	27706205	C	A	IFT172	c.521G>T	NM_015662.3	NP_056477.1:p.(Gly174Val)	NC_000002.11:g.27706205C>A	VUS	1 lab	d649b9dbd9
11:77602487 INTS4 T>C	11	77602487	77602487	T	C	INTS4	c.2470A>G	NM_033547.4	NP_291025.3:p.(Ile824Val)	NC_000011.9:g.77602487T>C	VUS	1 lab	d64b49b01b
10:61835822 ANK3 G>A	10	61835822	61835822	G	A	ANK3	c.4817C>T	NM_020987.5	NP_066267.2:p.(Thr1606Met)	NC_000010.10:g.61835822G>A	(Likely) benign	1 lab	d64c0059f6
15:75687146 SIN3A G>A	15	75687146	75687146	G	A	SIN3A	c.2152C>T	NM_001145358.2	NP_001138830.1:p.(Arg718Ter)	NC_000015.9:g.75687146G>A	(Likely) pathogenic	1 lab	d64dbb517f
2:39347530 SOS1 T>A	2	39347530	39347530	T	A	SOS1	c.34A>T	NM_005633.4	NP_005624.2:p.(Ser12Cys)	NC_000002.11:g.39347530T>A	(Likely) benign	1 lab	d650287709
5:149509379 PDGFRB C>T	5	149509379	149509379	C	T	PDGFRB	c.1520G>A	NM_002609.4	NP_002600.1:p.(Arg507His)	NC_000005.9:g.149509379C>T	(Likely) benign	1 lab	d651a9499d
X:153001547 ABCD1 C>G	X	153001547	153001547	C	G	ABCD1	c.1082-19C>G	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153001547C>G	(Likely) benign	1 lab	d651eab269
7:42007218 GLI3 C>G	7	42007218	42007218	C	G	GLI3	c.2407G>C	NM_000168.6	NP_000159.3:p.(Ala803Pro)	NC_000007.13:g.42007218C>G	(Likely) benign	1 lab	d6522454d0
22:39122283 GTPBP1 G>A	22	39122283	39122283	G	A	GTPBP1	c.1239G>A	NM_004286.5	NP_004277.2:p.(Ser413=)	NC_000022.10:g.39122283G>A	VUS	1 lab	d652358b7b
20:43052699 HNF4A C>T	20	43052699	43052699	C	T	HNF4A	c.934C>T	NM_000457.5	NP_000448.3:p.(Arg312Cys)	NC_000020.10:g.43052699C>T	(Likely) pathogenic	1 lab	d653fe1f7b
2:228116068 COL4A3 T>C	2	228116068	228116068	T	C	COL4A3	c.626T>C	NM_000091.5	NP_000082.2:p.(Met209Thr)	NC_000002.11:g.228116068T>C	(Likely) benign	1 lab	d6590789a2
21:35208816 ITSN1 A>G	21	35208816	35208816	A	G	ITSN1	c.3541A>G	NM_003024.3	NP_003015.2:p.(Ile1181Val)	NC_000021.8:g.35208816A>G	VUS	1 lab	d659e546ba
19:3637551 PIP5K1C G>C	19	3637551	3637551	G	C	PIP5K1C	c.1920+1331C>G	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3637551G>C	VUS	1 lab	d65b591912
10:89505573 PAPSS2 T>G	10	89505573	89505573	T	G	PAPSS2	c.1722-16T>G	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89505573T>G	(Likely) benign	1 lab	d65c26fd71
12:111772286 CUX2 A>C	12	111772286	111772286	A	C	CUX2	c.2968A>C	NM_015267.4	NP_056082.2:p.(Ser990Arg)	NC_000012.11:g.111772286A>C	(Likely) benign	1 lab	d661187b4c
X:70148741 SLC7A3 G>T	X	70148741	70148741	G	T	SLC7A3	c.482C>A	NM_032803.6	NP_116192.4:p.(Ala161Glu)	NC_000023.10:g.70148741G>T	VUS	1 lab	d662939066
X:105970429 RNF128 T>C	X	105970429	105970429	T	C	RNF128	c.286T>C	NM_194463.2	NP_919445.1:p.(Cys96Arg)	NC_000023.10:g.105970429T>C	VUS	1 lab	d662b7cb95
3:58120318 FLNB GGTGTGTGT>G	3	58120318	58120334	GGTGTGTGT	G	FLNB	c.4515-16_4515-9del	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58120327_58120334del	(Likely) benign	1 lab	d66401d6a9
1:235659543 B3GALNT2 C>T	1	235659543	235659543	C	T	B3GALNT2	c.113-1405G>A	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235659543C>T	(Likely) benign	1 lab	d664e0cd63
7:73475464 ELN A>G	7	73475464	73475464	A	G	ELN	c.1781A>G	NM_000501.4	NP_000492.2:p.(Lys594Arg)	NC_000007.13:g.73475464A>G	(Likely) benign	1 lab	d6657a574a
6:106992775 CRYBG1 T>C	6	106992775	106992775	T	C	CRYBG1	c.5279T>C	NM_001371242.2	NP_001358171.1:p.(Val1760Ala)	NC_000006.11:g.106992775T>C	VUS	1 lab	d6658066c4
1:94655572 ARHGAP29 A>C	1	94655572	94655572	A	C	ARHGAP29	c.1349T>G	NM_004815.4	NP_004806.3:p.(Leu450Arg)	NC_000001.10:g.94655572A>C	VUS	1 lab	d666433b9d
X:54783952 ITIH6 A>G	X	54783952	54783952	A	G	ITIH6	c.2555T>C	NM_198510.3	NP_940912.1:p.(Ile852Thr)	NC_000023.10:g.54783952A>G	(Likely) benign	1 lab	d66716035d
16:3778439 CREBBP T>TGC	16	3778439	3778440	T	TGC	CREBBP	c.6608_6609insGC	NM_004380.3	NP_004371.2:p.(Gln2204HisfsTer99)	NC_000016.9:g.3778439_3778440insGC	VUS	1 lab	d667416cae
1:200958066 KIF21B G>A	1	200958066	200958066	G	A	KIF21B	c.3133-7C>T	NM_001252102.2	NP_001239031.1:p.?	NC_000001.10:g.200958066G>A	VUS	1 lab	d66a33a8e8
6:31380161 MICA G>GCTGCTGCTGCT	6	31380161	31380162	G	GCTGCTGCTGCT	MICA	c.952_953insCTGCTGCTGCT	NM_001177519.3	NP_001170990.1:p.(Gly318AlafsTer72)	NC_000006.11:g.31380161_31380162insCTGCTGCTGCT	VUS	1 lab	d66d1780ec
17:79804387 P4HB G>C	17	79804387	79804387	G	C	P4HB	c.974C>G	NM_000918.4	NP_000909.2:p.(Thr325Ser)	NC_000017.10:g.79804387G>C	(Likely) benign	1 lab	d66dd3275a
18:42531292 SETBP1 A>G	18	42531292	42531292	A	G	SETBP1	c.1987A>G	NM_015559.3	NP_056374.2:p.(Ile663Val)	NC_000018.9:g.42531292A>G	VUS	1 lab	d66f46754b
9:134019961 NUP214 T>C	9	134019961	134019961	T	C	NUP214	c.1589T>C	NM_005085.4	NP_005076.3:p.(Leu530Pro)	NC_000009.11:g.134019961T>C	(Likely) benign	1 lab	d66fd968a6
12:125613919 AACS A>G	12	125613919	125613919	A	G	AACS	c.1462A>G	NM_023928.5	NP_076417.2:p.(Thr488Ala)	NC_000012.11:g.125613919A>G	(Likely) benign	1 lab	d670e4086a
16:9857902 GRIN2A T>C	16	9857902	9857902	T	C	GRIN2A	c.3499A>G	NM_001134407.3	NP_001127879.1:p.(Met1167Val)	NC_000016.9:g.9857902T>C	VUS	1 lab	d671311598
22:42609502 TCF20 C>G	22	42609502	42609502	C	G	TCF20	c.1810G>C	NM_001378418.1	NP_001365347.1:p.(Val604Leu)	NC_000022.10:g.42609502C>G	VUS	1 lab	d67254e790
1:200957992 KIF21B A>G	1	200957992	200957992	A	G	KIF21B	c.3200T>C	NM_001252102.2	NP_001239031.1:p.(Met1067Thr)	NC_000001.10:g.200957992A>G	VUS	1 lab	d675162ff2
X:96171439 DIAPH2 TGGA>T	X	96171439	96171442	TGGA	T	DIAPH2	c.736_738del	NM_006729.5	NP_006720.1:p.(Gly246del)	NC_000023.10:g.96171440_96171442del	VUS	1 lab	d675549078
2:207173066 ZDBF2 G>A	2	207173066	207173066	G	A	ZDBF2	c.3814G>A	NM_020923.3	NP_065974.1:p.(Asp1272Asn)	NC_000002.11:g.207173066G>A	VUS	1 lab	d6755c34ee
6:102124490 GRIK2 A>T	6	102124490	102124490	A	T	GRIK2	c.542-8A>T	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102124490A>T	(Likely) benign	1 lab	d6767e8fe8
1:164761983 PBX1 G>T	1	164761983	164761983	G	T	PBX1	c.510+8G>T	NM_002585.4	NP_002576.1:p.?	NC_000001.10:g.164761983G>T	(Likely) benign	1 lab	d677711529
16:1841299 IGFALS G>T	16	1841299	1841299	G	T	IGFALS	c.1120C>A	NM_004970.3	NP_004961.1:p.(Leu374Ile)	NC_000016.9:g.1841299G>T	(Likely) benign	1 lab	d679e436b4
11:68177463 LRP5 G>A	11	68177463	68177463	G	A	LRP5	c.2173G>A	NM_002335.4	NP_002326.2:p.(Val725Ile)	NC_000011.9:g.68177463G>A	VUS	1 lab	d67a877b1d
15:89388869 ACAN C>T	15	89388869	89388869	C	T	ACAN	c.1185C>T	NM_001369268.1	NP_001356197.1:p.(Gly395=)	NC_000015.9:g.89388869C>T	VUS	1 lab	d67b955e93
X:14937884 MOSPD2 C>G	X	14937884	14937884	C	G	MOSPD2	c.1510C>G	NM_152581.4	NP_689794.1:p.(Leu504Val)	NC_000023.10:g.14937884C>G	(Likely) benign	1 lab	d67c46ff2a
22:50723048 PLXNB2 G>A	22	50723048	50723048	G	A	PLXNB2	c.2135C>T	NM_012401.4	NP_036533.2:p.(Pro712Leu)	NC_000022.10:g.50723048G>A	(Likely) benign	1 lab	d67d064565
11:19955058 NAV2 G>A	11	19955058	19955058	G	A	NAV2	c.1268G>A	NM_145117.5	NP_660093.2:p.(Arg423Gln)	NC_000011.9:g.19955058G>A	VUS	1 lab	d67d5ec3a5
15:86278362 AKAP13 T>G	15	86278362	86278362	T	G	AKAP13	c.7422T>G	NM_007200.5	NP_009131.2:p.(His2474Gln)	NC_000015.9:g.86278362T>G	(Likely) benign	1 lab	d68019dfbf
8:145736521 SLC33A2 G>A	8	145736521	145736521	G	A	SLC33A2	c.1213G>A	NM_138431.3	NP_612440.1:p.(Asp405Asn)	NC_000008.10:g.145736521G>A	(Likely) benign	1 lab	d680946b03
11:20622761 SLC6A5 C>G	11	20622761	20622761	C	G	SLC6A5	c.90C>G	NM_004211.5	NP_004202.4:p.(Cys30Trp)	NC_000011.9:g.20622761C>G	(Likely) benign	1 lab	d68117a999
7:77649064 MAGI2 C>G	7	77649064	77649064	C	G	MAGI2	c.3936G>C	NM_012301.4	NP_036433.2:p.(Glu1312Asp)	NC_000007.13:g.77649064C>G	(Likely) benign	1 lab	d6825fcfc3
3:88188815 ZNF654 A>G	3	88188815	88188815	A	G	ZNF654	c.1996A>G	NM_001350134.2	NP_001337063.1:p.(Ile666Val)	NC_000003.11:g.88188815A>G	VUS	1 lab	d682d4621e
19:36336378 NPHS1 C>T	19	36336378	36336378	C	T	NPHS1	c.1822G>A	NM_004646.4	NP_004637.1:p.(Val608Ile)	NC_000019.9:g.36336378C>T	VUS	1 lab	2c14ef0a4b
X:148038133 AFF2 G>A	X	148038133	148038133	G	A	AFF2	c.2558G>A	NM_002025.4	NP_002016.2:p.(Arg853His)	NC_000023.10:g.148038133G>A	(Likely) benign	1 lab	d68391ac5c
X:51075965 NUDT10 G>A	X	51075965	51075965	G	A	NUDT10	c.148G>A	NM_001304963.2	NP_001291892.1:p.(Gly50Arg)	NC_000023.10:g.51075965G>A	VUS	1 lab	d684554f47
1:909381 PLEKHN1 C>T	1	909381	909381	C	T	PLEKHN1	c.1603C>T	NM_032129.3	NP_115505.2:p.(Arg535Trp)	NC_000001.10:g.909381C>T	VUS	1 lab	d684ff984e
16:24104168 PRKCB G>A	16	24104168	24104168	G	A	PRKCB	c.586G>A	NM_002738.7	NP_002729.2:p.(Val196Ile)	NC_000016.9:g.24104168G>A	VUS	1 lab	d687fae1bb
2:239241445 TRAF3IP1 AT>A	2	239241445	239241459	AT	A	TRAF3IP1	c.916-6del	NM_015650.4	NP_056465.2:p.?	NC_000002.11:g.239241459del	(Likely) benign	1 lab	d6888a517a
13:109793342 MYO16 GCCGCCC>G	13	109793342	109793366	GCCGCCC	G	MYO16	c.4801_4806del	NM_001198950.3	NP_001185879.1:p.(Pro1601_Pro1602del)	NC_000013.10:g.109793361_109793366del	VUS	1 lab	d689a0bedb
7:92147108 PEX1 ATGATGAGTCAACTGG>A	7	92147108	92147123	ATGATGAGTCAACTGG	A	PEX1	c.706_720del	NM_000466.3	NP_000457.1:p.(Pro236_Ser240del)	NC_000007.13:g.92147109_92147123del	VUS	1 lab	d68a7fbd00
X:153219943 HCFC1 T>G	X	153219943	153219943	T	G	HCFC1	c.3907A>C	NM_005334.3	NP_005325.2:p.(Asn1303His)	NC_000023.10:g.153219943T>G	(Likely) benign	1 lab	d68cd4d70c
3:195965675 PCYT1A G>A	3	195965675	195965675	G	A	PCYT1A	c.988C>T	NM_001312673.2	NP_001299602.1:p.(Pro330Ser)	NC_000003.11:g.195965675G>A	VUS	1 lab	d68cec2c83
3:53837602 CACNA1D G>A	3	53837602	53837602	G	A	CACNA1D	c.5585+3G>A	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53837602G>A	(Likely) benign	1 lab	d68fe6a871
11:68478462 TESMIN T>C	11	68478462	68478462	T	C	TESMIN	c.1214A>G	NM_004923.3	NP_004914.2:p.(Glu405Gly)	NC_000011.9:g.68478462T>C	(Likely) benign	1 lab	d68ffe7ff1
5:156021952 SGCD C>T	5	156021952	156021952	C	T	SGCD	c.393C>T	NM_000337.6	NP_000328.2:p.(Ala131=)	NC_000005.9:g.156021952C>T	(Likely) benign	1 lab	d691be2027
1:8420821 RERE G>A	1	8420821	8420821	G	A	RERE	c.2746C>T	NM_001042681.2	NP_001036146.1:p.(Gln916Ter)	NC_000001.10:g.8420821G>A	VUS	1 lab	d698b0728e
19:44008270 PHLDB3 T>C	19	44008270	44008270	T	C	PHLDB3	c.1A>G	NM_198850.4	NP_942147.3:p.(Met1?)	NC_000019.9:g.44008270T>C	VUS	1 lab	d698fb8c61
19:15302932 NOTCH3 G>A	19	15302932	15302932	G	A	NOTCH3	c.518C>T	NM_000435.3	NP_000426.2:p.(Thr173Ile)	NC_000019.9:g.15302932G>A	VUS	1 lab	d69b283a5c
18:46447817 SMAD7 G>C	18	46447817	46447817	G	C	SMAD7	c.1206C>G	NM_005904.4	NP_005895.1:p.(Gly402=)	NC_000018.9:g.46447817G>C	(Likely) benign	1 lab	d69bc4434a
10:135192935 PAOX CCG>C	10	135192935	135192938	CCG	C	PAOX	c.117_118del	NM_152911.4	NP_690875.1:p.(His40ProfsTer38)	NC_000010.10:g.135192937_135192938del	VUS	1 lab	d69c1287df
14:74420127 COQ6 C>T	14	74420127	74420127	C	T	COQ6	c.164-11C>T	NM_182476.3	NP_872282.1:p.?	NC_000014.8:g.74420127C>T	(Likely) benign	1 lab	2c19deedd9
12:30818789 IPO8 C>T	12	30818789	30818789	C	T	IPO8	c.1222-10G>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30818789C>T	(Likely) benign	1 lab	d69e39d4bd
2:20137705 WDR35 C>T	2	20137705	20137705	C	T	WDR35	c.2066G>A	NM_020779.4	NP_065830.2:p.(Arg689His)	NC_000002.11:g.20137705C>T	VUS	1 lab	d6a04f4314
20:33433204 GGT7 C>T	20	33433204	33433204	C	T	GGT7	c.1916G>A	NM_178026.3	NP_821158.2:p.(Arg639Gln)	NC_000020.10:g.33433204C>T	VUS	1 lab	d6a1090641
8:126056252 WASHC5 G>A	8	126056252	126056252	G	A	WASHC5	c.2752C>T	NM_014846.4	NP_055661.3:p.(Pro918Ser)	NC_000008.10:g.126056252G>A	VUS	1 lab	d6a17f64fa
5:42718146 GHR T>G	5	42718146	42718146	T	G	GHR	c.876-8T>G	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42718146T>G	VUS	1 lab	d6a2875701
19:15278113 NOTCH3 G>A	19	15278113	15278113	G	A	NOTCH3	c.5309C>T	NM_000435.3	NP_000426.2:p.(Pro1770Leu)	NC_000019.9:g.15278113G>A	VUS	1 lab	d6a2b55b15
1:147092671 BCL9 T>A	1	147092671	147092671	T	A	BCL9	c.2710T>A	NM_004326.4	NP_004317.2:p.(Ser904Thr)	NC_000001.10:g.147092671T>A	(Likely) benign	1 lab	d6a2e7d68c
19:1487614 PCSK4 C>T	19	1487614	1487614	C	T	PCSK4	c.670G>A	NM_017573.5	NP_060043.2:p.(Ala224Thr)	NC_000019.9:g.1487614C>T	VUS	1 lab	d6a353415a
5:5461039 ICE1 G>GTTC	5	5461039	5461046	G	GTTC	ICE1	c.1597_1599dup	NM_015325.3	NP_056140.1:p.(Ser533dup)	NC_000005.9:g.5461044_5461046dup	(Likely) benign	1 lab	d6a3558735
13:111130460 COL4A2 G>C	13	111130460	111130460	G	C	COL4A2	c.2536G>C	NM_001846.4	NP_001837.2:p.(Ala846Pro)	NC_000013.10:g.111130460G>C	(Likely) benign	1 lab	d6a4254c51
4:6302981 WFS1 A>G	4	6302981	6302981	A	G	WFS1	c.1459A>G	NM_006005.3	NP_005996.2:p.(Thr487Ala)	NC_000004.11:g.6302981A>G	(Likely) benign	1 lab	d6a4e321a1
X:114425404 RBMXL3 G>C	X	114425404	114425404	G	C	RBMXL3	c.1400G>C	NM_001145346.2	NP_001138818.1:p.(Gly467Ala)	NC_000023.10:g.114425404G>C	(Likely) benign	1 lab	d6a6997104
16:89346684 ANKRD11 A>C	16	89346684	89346684	A	C	ANKRD11	c.6266T>G	NM_013275.6	NP_037407.4:p.(Val2089Gly)	NC_000016.9:g.89346684A>C	(Likely) benign	1 lab	d6a753920e
9:79968323 VPS13A A>C	9	79968323	79968323	A	C	VPS13A	c.7420-2A>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79968323A>C	VUS	1 lab	d6a82a1ceb
9:117066900 COL27A1 C>A	9	117066900	117066900	C	A	COL27A1	c.4885C>A	NM_032888.4	NP_116277.2:p.(Leu1629Ile)	NC_000009.11:g.117066900C>A	(Likely) benign	1 lab	d6a8d15ad8
16:4387305 GLIS2 C>T	16	4387305	4387305	C	T	GLIS2	c.1355C>T	NM_032575.3	NP_115964.2:p.(Pro452Leu)	NC_000016.9:g.4387305C>T	VUS	1 lab	2c1b37d7eb
X:48759290 PQBP1 C>T	X	48759290	48759290	C	T	PQBP1	c.263C>T	NM_001032382.2	NP_001027554.1:p.(Ser88Leu)	NC_000023.10:g.48759290C>T	VUS	1 lab	d6aaa18dd7
20:31023964 ASXL1 G>T	20	31023964	31023964	G	T	ASXL1	c.3449G>T	NM_015338.6	NP_056153.2:p.(Gly1150Val)	NC_000020.10:g.31023964G>T	(Likely) benign	1 lab	d6ab4ff4ba
18:42529888 SETBP1 A>C	18	42529888	42529888	A	C	SETBP1	c.583A>C	NM_015559.3	NP_056374.2:p.(Thr195Pro)	NC_000018.9:g.42529888A>C	(Likely) benign	1 lab	d6abb7086f
19:49703904 TRPM4 G>T	19	49703904	49703904	G	T	TRPM4	c.2815G>T	NM_017636.4	NP_060106.2:p.(Val939Leu)	NC_000019.9:g.49703904G>T	VUS	1 lab	d6ac3ea968
15:48704888 FBN1 T>C	15	48704888	48704888	T	C	FBN1	c.8104A>G	NM_000138.5	NP_000129.3:p.(Ser2702Gly)	NC_000015.9:g.48704888T>C	VUS	1 lab	d6ae477ec6
5:7866822 FASTKD3 C>G	5	7866822	7866822	C	G	FASTKD3	c.1375G>C	NM_024091.4	NP_076996.2:p.(Glu459Gln)	NC_000005.9:g.7866822C>G	(Likely) benign	1 lab	d6ae9bbfcb
19:55865861 COX6B2 G>T	19	55865861	55865861	G	T	COX6B2	c.29C>A	NM_144613.5	NP_653214.2:p.(Pro10His)	NC_000019.9:g.55865861G>T	VUS	1 lab	d6aedebbd4
6:51907795 PKHD1 A>T	6	51907795	51907795	A	T	PKHD1	c.2959T>A	NM_138694.4	NP_619639.3:p.(Leu987Met)	NC_000006.11:g.51907795A>T	VUS	1 lab	d6aeefeedd
2:179596057 TTN T>C	2	179596057	179596057	T	C	TTN	c.17436A>G	NM_001267550.2	NP_001254479.2:p.(Arg5812=)	NC_000002.11:g.179596057T>C	VUS	1 lab	d6b0713b24
8:100791149 VPS13B G>A	8	100791149	100791149	G	A	VPS13B	c.7669G>A	NM_152564.5	NP_689777.3:p.(Asp2557Asn)	NC_000008.10:g.100791149G>A	(Likely) benign	1 lab	d6b0f8536f
16:2147410 PKD1 G>A	16	2147410	2147410	G	A	PKD1	c.10315C>T	NM_001009944.3	NP_001009944.3:p.(Arg3439Trp)	NC_000016.9:g.2147410G>A	VUS	1 lab	d6b1084450
17:40375521 STAT5B C>G	17	40375521	40375521	C	G	STAT5B	c.429G>C	NM_012448.4	NP_036580.2:p.(Gln143His)	NC_000017.10:g.40375521C>G	(Likely) benign	1 lab	d6b1138120
9:35801745 NPR2 C>T	9	35801745	35801745	C	T	NPR2	c.1542C>T	NM_003995.4	NP_003986.2:p.(Arg514=)	NC_000009.11:g.35801745C>T	(Likely) benign	1 lab	d6b33879fd
16:48385559 LONP2 G>A	16	48385559	48385559	G	A	LONP2	c.2405G>A	NM_031490.5	NP_113678.2:p.(Arg802Gln)	NC_000016.9:g.48385559G>A	VUS	1 lab	d6b5c95e59
2:238277602 COL6A3 C>T	2	238277602	238277602	C	T	COL6A3	c.4504G>A	NM_004369.4	NP_004360.2:p.(Ala1502Thr)	NC_000002.11:g.238277602C>T	VUS	1 lab	d6b6e6ab93
16:1245474 CACNA1H G>A	16	1245474	1245474	G	A	CACNA1H	c.454G>A	NM_021098.3	NP_066921.2:p.(Val152Ile)	NC_000016.9:g.1245474G>A	(Likely) benign	1 lab	d6b7a9aff0
15:100871120 ADAMTS17 G>A	15	100871120	100871120	G	A	ADAMTS17	c.590C>T	NM_139057.4	NP_620688.2:p.(Pro197Leu)	NC_000015.9:g.100871120G>A	(Likely) benign	1 lab	d6b81df0ac
11:794766 SLC25A22 G>A	11	794766	794766	G	A	SLC25A22	c.146+10C>T	NM_001191061.2	NP_001177990.1:p.?	NC_000011.9:g.794766G>A	(Likely) benign	1 lab	d6b8970353
4:123277148 BLTP1 A>G	4	123277148	123277148	A	G	BLTP1	c.14764+3A>G	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123277148A>G	VUS	1 lab	d6b8b7cef5
2:165947724 SCN3A CAA>C	2	165947724	165947727	CAA	C	SCN3A	c.4937_4938del	NM_006922.4	NP_008853.3:p.(Phe1646CysfsTer11)	NC_000002.11:g.165947726_165947727del	VUS	1 lab	d6b9cb4c24
8:117658712 EIF3H G>A	8	117658712	117658712	G	A	EIF3H	c.959C>T	NM_003756.3	NP_003747.1:p.(Ala320Val)	NC_000008.10:g.117658712G>A	VUS	1 lab	d6b9dbbcd0
9:4125834 GLIS3 G>C	9	4125834	4125834	G	C	GLIS3	c.496C>G	NM_001042413.2	NP_001035878.1:p.(Pro166Ala)	NC_000009.11:g.4125834G>C	VUS	1 lab	d6bac71815
1:152285310 FLG G>T	1	152285310	152285310	G	T	FLG	c.2052C>A	NM_002016.2	NP_002007.1:p.(His684Gln)	NC_000001.10:g.152285310G>T	(Likely) benign	1 lab	d6baefd577
9:2635472 VLDLR A>T	9	2635472	2635472	A	T	VLDLR	c.102A>T	NM_003383.5	NP_003374.3:p.(Glu34Asp)	NC_000009.11:g.2635472A>T	VUS	1 lab	d6bc161b57
2:163134025 IFIH1 AC>A	2	163134025	163134028	AC	A	IFIH1	c.1943del	NM_022168.4	NP_071451.2:p.(Gly648ValfsTer16)	NC_000002.11:g.163134028del	(Likely) benign	1 lab	d6bcaab9f3
1:230401006 GALNT2 A>G	1	230401006	230401006	A	G	GALNT2	c.1333A>G	NM_004481.5	NP_004472.1:p.(Ile445Val)	NC_000001.10:g.230401006A>G	(Likely) benign	1 lab	d6bda0e7f0
10:79741290 POLR3A C>A	10	79741290	79741290	C	A	POLR3A	c.3787G>T	NM_007055.4	NP_008986.2:p.(Ala1263Ser)	NC_000010.10:g.79741290C>A	VUS	1 lab	d6c9829db3
21:47746387 PCNT CAGG>C	21	47746387	47746395	CAGG	C	PCNT	c.157_159del	NM_006031.6	NP_006022.3:p.(Glu53del)	NC_000021.8:g.47746393_47746395del	(Likely) benign	1 lab	d6bf144d12
13:28498578 PDX1 C>T	13	28498578	28498578	C	T	PDX1	c.592C>T	NM_000209.4	NP_000200.1:p.(Arg198Cys)	NC_000013.10:g.28498578C>T	VUS	1 lab	d6bf2068e5
19:1467960 APC2 G>A	19	1467960	1467960	G	A	APC2	c.4660G>A	NM_005883.3	NP_005874.1:p.(Ala1554Thr)	NC_000019.9:g.1467960G>A	VUS	1 lab	d6c0d650c3
8:106815474 ZFPM2 C>T	8	106815474	106815474	C	T	ZFPM2	c.3164C>T	NM_012082.4	NP_036214.2:p.(Ala1055Val)	NC_000008.10:g.106815474C>T	(Likely) benign	1 lab	d6c37de80c
6:79650613 PHIP C>G	6	79650613	79650613	C	G	PHIP	c.5263G>C	NM_017934.7	NP_060404.4:p.(Glu1755Gln)	NC_000006.11:g.79650613C>G	(Likely) benign	1 lab	d6c4bec280
1:11561669 DISP3 C>A	1	11561669	11561669	C	A	DISP3	c.620C>A	NM_020780.2	NP_065831.1:p.(Thr207Asn)	NC_000001.10:g.11561669C>A	(Likely) benign	1 lab	d6c6a01411
3:23987084 NR1D2 A>G	3	23987084	23987084	A	G	NR1D2	c.15A>G	NM_005126.5	NP_005117.3:p.(Ala5=)	NC_000003.11:g.23987084A>G	VUS	1 lab	d6c6aac997
14:74759920 ABCD4 G>A	14	74759920	74759920	G	A	ABCD4	c.751C>T	NM_005050.4	NP_005041.1:p.(Arg251Cys)	NC_000014.8:g.74759920G>A	VUS	1 lab	d6c72af6b2
9:136406091 ADAMTSL2 C>T	9	136406091	136406091	C	T	ADAMTSL2	c.650C>T	NM_014694.4	NP_055509.2:p.(Thr217Met)	NC_000009.11:g.136406091C>T	VUS	1 lab	d6c747f904
5:140250854 PCDHA1 G>A	5	140250854	140250854	G	A	PCDHA1	c.2394+82585G>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140250854G>A	VUS	1 lab	d6c79d93e6
19:14863138 ADGRE2 T>C	19	14863138	14863138	T	C	ADGRE2	c.1788+3A>G	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14863138T>C	VUS	1 lab	2c1d15831f
16:15128139 PDXDC1 A>T	16	15128139	15128139	A	T	PDXDC1	c.1813-4A>T	NM_015027.4	NP_055842.2:p.?	NC_000016.9:g.15128139A>T	(Likely) benign	1 lab	d6ca92fbd1
2:166894532 SCN1A G>A	2	166894532	166894532	G	A	SCN1A	c.2700C>T	NM_001165963.4	NP_001159435.1:p.(Ile900=)	NC_000002.11:g.166894532G>A	(Likely) benign	1 lab	d6cdca336b
12:57586721 LRP1 G>A	12	57586721	57586721	G	A	LRP1	c.7523G>A	NM_002332.3	NP_002323.2:p.(Gly2508Asp)	NC_000012.11:g.57586721G>A	(Likely) benign	1 lab	d6ce35a43e
7:98649897 SMURF1 G>A	7	98649897	98649897	G	A	SMURF1	c.652C>T	NM_181349.3	NP_851994.1:p.(Arg218Ter)	NC_000007.13:g.98649897G>A	VUS	1 lab	d6d0583456
14:105677516 BRF1 GCTC>G	14	105677516	105677525	GCTC	G	BRF1	c.1936_1938del	NM_001519.4	NP_001510.2:p.(Glu646del)	NC_000014.8:g.105677523_105677525del	VUS	1 lab	d6d05d164f
4:129920817 SCLT1 C>A	4	129920817	129920817	C	A	SCLT1	c.549+10G>T	NM_144643.4	NP_653244.2:p.?	NC_000004.11:g.129920817C>A	(Likely) benign	1 lab	d6d0e2f41c
12:113610353 DDX54 G>A	12	113610353	113610353	G	A	DDX54	c.1084C>T	NM_024072.4	NP_076977.3:p.(Arg362Trp)	NC_000012.11:g.113610353G>A	VUS	1 lab	d6d10c7d9f
X:70327743 IL2RG G>A	X	70327743	70327743	G	A	IL2RG	c.953C>T	NM_000206.3	NP_000197.1:p.(Ala318Val)	NC_000023.10:g.70327743G>A	(Likely) benign	1 lab	d6d1e2efbb
8:71041019 NCOA2 G>A	8	71041019	71041019	G	A	NCOA2	c.3521C>T	NM_006540.4	NP_006531.1:p.(Pro1174Leu)	NC_000008.10:g.71041019G>A	VUS	1 lab	d6d285dee0
9:80262637 GNA14 G>A	9	80262637	80262637	G	A	GNA14	c.73C>T	NM_004297.4	NP_004288.1:p.(Leu25Phe)	NC_000009.11:g.80262637G>A	VUS	1 lab	d6d8a7eaa8
X:118786837 SEPTIN6 T>G	X	118786837	118786837	T	G	SEPTIN6	c.508A>C	NM_145799.4	NP_665798.1:p.(Met170Leu)	NC_000023.10:g.118786837T>G	VUS	1 lab	d6d98bb704
5:137721746 KDM3B AAAG>A	5	137721746	137721756	AAAG	A	KDM3B	c.824_826del	NM_016604.4	NP_057688.3:p.(Lys275del)	NC_000005.9:g.137721754_137721756del	(Likely) benign	1 lab	d6dab71c79
2:127825807 BIN1 C>T	2	127825807	127825807	C	T	BIN1	c.544G>A	NM_139343.3	NP_647593.1:p.(Ala182Thr)	NC_000002.11:g.127825807C>T	VUS	1 lab	d6daf4c016
15:86122760 AKAP13 G>A	15	86122760	86122760	G	A	AKAP13	c.1461G>A	NM_007200.5	NP_009131.2:p.(Met487Ile)	NC_000015.9:g.86122760G>A	(Likely) benign	1 lab	d6db5dd11d
X:107918007 COL4A5 CT>C	X	107918007	107918025	CT	C	COL4A5	c.3808+42del	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107918025del	(Likely) benign	1 lab	2e2a8f4c09
16:30727464 SRCAP C>G	16	30727464	30727464	C	G	SRCAP	c.2571C>G	NM_006662.3	NP_006653.2:p.(Ile857Met)	NC_000016.9:g.30727464C>G	VUS	1 lab	d6dee9d0ca
1:21928331 RAP1GAP G>A	1	21928331	21928331	G	A	RAP1GAP	c.1539-41C>T	NM_002885.4	NP_002876.2:p.?	NC_000001.10:g.21928331G>A	(Likely) benign	1 lab	d6e1379511
15:48755320 FBN1 G>A	15	48755320	48755320	G	A	FBN1	c.5183C>T	NM_000138.5	NP_000129.3:p.(Ala1728Val)	NC_000015.9:g.48755320G>A	(Likely) pathogenic	1 lab	d6e1853d96
3:69167851 LMOD3 G>T	3	69167851	69167851	G	T	LMOD3	c.1655C>A	NM_198271.5	NP_938012.2:p.(Pro552His)	NC_000003.11:g.69167851G>T	(Likely) benign	1 lab	d6e25eaf99
16:364555 AXIN1 G>A	16	364555	364555	G	A	AXIN1	c.1007C>T	NM_003502.4	NP_003493.1:p.(Thr336Met)	NC_000016.9:g.364555G>A	VUS	1 lab	d6e7d5b7eb
6:36681669 RAB44 T>C	6	36681669	36681669	T	C	RAB44	c.272T>C	NM_001257357.2	NP_001244286.1:p.(Val91Ala)	NC_000006.11:g.36681669T>C	(Likely) benign	1 lab	d6e92c3a0c
17:59793361 BRIP1 G>A	17	59793361	59793361	G	A	BRIP1	c.2443C>T	NM_032043.3	NP_114432.2:p.(Gln815Ter)	NC_000017.10:g.59793361G>A	(Likely) pathogenic	1 lab	d6eb57f178
19:17036087 CPAMD8 C>T	19	17036087	17036087	C	T	CPAMD8	c.3466G>A	NM_015692.5	NP_056507.3:p.(Val1156Ile)	NC_000019.9:g.17036087C>T	(Likely) benign	1 lab	d6ec49bb5d
16:188263 NPRL3 G>A	16	188263	188263	G	A	NPRL3	c.4C>T	NM_001077350.3	NP_001070818.1:p.(Arg2Trp)	NC_000016.9:g.188263G>A	VUS	1 lab	d6f10604e4
1:145303931 NBPF10 A>G	1	145303931	145303931	A	G	NBPF10	c.1328A>G	NM_001302371.3	NP_001289300.1:p.(Glu443Gly)	NC_000001.10:g.145303931A>G	(Likely) benign	1 lab	d6f1192048
17:78188837 SGSH C>A	17	78188837	78188837	C	A	SGSH	c.350G>T	NM_001352921.3	NP_001339850.1:p.(Arg117Leu)	NC_000017.10:g.78188837C>A	VUS	1 lab	2c20c5954e
19:12918052 RNASEH2A A>G	19	12918052	12918052	A	G	RNASEH2A	c.232A>G	NM_006397.3	NP_006388.2:p.(Arg78Gly)	NC_000019.9:g.12918052A>G	VUS	1 lab	d6f5cb742d
16:88800805 PIEZO1 G>A	16	88800805	88800805	G	A	PIEZO1	c.2139C>T	NM_001142864.4	NP_001136336.2:p.(His713=)	NC_000016.9:g.88800805G>A	(Likely) benign	1 lab	d6f6007c56
12:29617610 OVCH1 A>G	12	29617610	29617610	A	G	OVCH1	c.2060T>C	NM_001353179.2	NP_001340108.1:p.(Val687Ala)	NC_000012.11:g.29617610A>G	(Likely) benign	1 lab	d6f732dc99
6:118786605 CEP85L T>C	6	118786605	118786605	T	C	CEP85L	c.2381A>G	NM_001042475.3	NP_001035940.1:p.(Tyr794Cys)	NC_000006.11:g.118786605T>C	VUS	1 lab	d6f74db91b
19:46283055 DMPK C>T	19	46283055	46283055	C	T	DMPK	c.233G>A	NM_004409.5	NP_004400.4:p.(Gly78Glu)	NC_000019.9:g.46283055C>T	VUS	1 lab	d6f8ba4dfd
X:101381816 TCEAL2 T>A	X	101381816	101381816	T	A	TCEAL2	c.14T>A	NM_080390.4	NP_525129.1:p.(Phe5Tyr)	NC_000023.10:g.101381816T>A	(Likely) benign	1 lab	d6fa030c89
5:78280974 ARSB G>A	5	78280974	78280974	G	A	ARSB	c.98C>T	NM_000046.5	NP_000037.2:p.(Ala33Val)	NC_000005.9:g.78280974G>A	(Likely) benign	1 lab	d6fd2f9aa8
16:8987961 USP7 C>T	16	8987961	8987961	C	T	USP7	c.3203G>A	NM_003470.3	NP_003461.2:p.(Gly1068Asp)	NC_000016.9:g.8987961C>T	VUS	1 lab	d6fdb081d0
2:197183794 HECW2 G>T	2	197183794	197183794	G	T	HECW2	c.1820C>A	NM_001348768.2	NP_001335697.1:p.(Pro607His)	NC_000002.11:g.197183794G>T	(Likely) benign	1 lab	d6ff03abe8
10:43619248 RET C>G	10	43619248	43619248	C	G	RET	c.2931C>G	NM_020975.6	NP_066124.1:p.(Ser977Arg)	NC_000010.10:g.43619248C>G	VUS	1 lab	d7005fa3e1
13:78146303 SCEL C>T	13	78146303	78146303	C	T	SCEL	c.524C>T	NM_144777.3	NP_659001.2:p.(Ser175Leu)	NC_000013.10:g.78146303C>T	(Likely) benign	1 lab	d700e8e374
5:139742533 SLC4A9 C>T	5	139742533	139742533	C	T	SLC4A9	c.844C>T	NM_031467.3	NP_113655.2:p.(His282Tyr)	NC_000005.9:g.139742533C>T	(Likely) benign	1 lab	d70311d596
4:153303354 FBXW7 A>C	4	153303354	153303354	A	C	FBXW7	c.501+29101T>G	NM_001349798.2	NP_001336727.1:p.?	NC_000004.11:g.153303354A>C	(Likely) benign	1 lab	d70597b65c
X:595354 SHOX G>T	X	595354	595354	G	T	SHOX	c.279G>T	NM_000451.3	NP_000442.1:p.(Gly93=)	NC_000023.10:g.595354G>T	VUS	1 lab	d70ab41c1d
X:8138836 VCX2 C>T	X	8138836	8138836	C	T	VCX2	c.-146-6G>A	NM_016378.3	NP_057462.2:p.?	NC_000023.10:g.8138836C>T	(Likely) benign	1 lab	d70abec6e2
9:14859153 FREM1 C>A	9	14859153	14859153	C	A	FREM1	c.631+28G>T	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14859153C>A	(Likely) benign	1 lab	d70ad398d8
7:157151229 DNAJB6 T>G	7	157151229	157151229	T	G	DNAJB6	c.-26-12T>G	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157151229T>G	(Likely) benign	1 lab	d70b3e7455
10:134599092 NKX6-2 C>T	10	134599092	134599092	C	T	NKX6-2	c.361G>A	NM_177400.3	NP_796374.2:p.(Val121Met)	NC_000010.10:g.134599092C>T	VUS	1 lab	d70e8dc4b4
7:36478805 ANLN CT>C	7	36478805	36478808	CT	C	ANLN	c.2884-5del	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36478808del	(Likely) benign	1 lab	2e2d51c589
1:161089119 NIT1 G>A	1	161089119	161089119	G	A	NIT1	c.294G>A	NM_005600.3	NP_005591.1:p.(Thr98=)	NC_000001.10:g.161089119G>A	(Likely) benign	1 lab	d70f522ea6
2:20145755 WDR35 C>T	2	20145755	20145755	C	T	WDR35	c.1637G>A	NM_020779.4	NP_065830.2:p.(Arg546His)	NC_000002.11:g.20145755C>T	VUS	1 lab	d710624f38
7:70198963 AUTS2 G>GA	7	70198963	70198964	G	GA	AUTS2	c.743-28893_743-28892insA	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70198963_70198964insA	(Likely) benign	1 lab	d711adf107
14:105241318 AKT1 G>A	14	105241318	105241318	G	A	AKT1	c.590C>T	NM_001382430.1	NP_001369359.1:p.(Thr197Ile)	NC_000014.8:g.105241318G>A	VUS	1 lab	d713fc9c78
12:52681925 KRT81 A>C	12	52681925	52681925	A	C	KRT81	c.743T>G	NM_002281.4	NP_002272.2:p.(Leu248Arg)	NC_000012.11:g.52681925A>C	(Likely) benign	1 lab	2c27799c4b
5:38528838 LIFR T>C	5	38528838	38528838	T	C	LIFR	c.247A>G	NM_001127671.2	NP_001121143.1:p.(Ile83Val)	NC_000005.9:g.38528838T>C	(Likely) benign	1 lab	d715f8c554
16:4387079 GLIS2 G>C	16	4387079	4387079	G	C	GLIS2	c.1129G>C	NM_032575.3	NP_115964.2:p.(Gly377Arg)	NC_000016.9:g.4387079G>C	(Likely) benign	1 lab	d7160373a1
2:27528522 TRIM54 G>A	2	27528522	27528522	G	A	TRIM54	c.680G>A	NM_187841.3	NP_912730.2:p.(Arg227His)	NC_000002.11:g.27528522G>A	VUS	1 lab	d71688a690
19:39077958 RYR1 A>G	19	39077958	39077958	A	G	RYR1	c.15022-7A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39077958A>G	VUS	1 lab	d716fa9fc9
X:70389735 NLGN3 C>A	X	70389735	70389735	C	A	NLGN3	c.2335C>A	NM_181303.2	NP_851820.1:p.(Pro779Thr)	NC_000023.10:g.70389735C>A	VUS	1 lab	d71715ae89
12:58160785 CYP27B1 G>A	12	58160785	58160785	G	A	CYP27B1	c.40C>T	NM_000785.4	NP_000776.1:p.(Arg14Cys)	NC_000012.11:g.58160785G>A	VUS	1 lab	d717f5ec55
X:107431203 COL4A6 T>C	X	107431203	107431203	T	C	COL4A6	c.1642A>G	NM_033641.4	NP_378667.1:p.(Ile548Val)	NC_000023.10:g.107431203T>C	(Likely) benign	1 lab	d71955fc1b
8:77775381 ZFHX4 C>T	8	77775381	77775381	C	T	ZFHX4	c.9431C>T	NM_024721.5	NP_078997.4:p.(Ser3144Leu)	NC_000008.10:g.77775381C>T	(Likely) benign	1 lab	d71bc5da18
3:58134543 FLNB G>A	3	58134543	58134543	G	A	FLNB	c.6055G>A	NM_001457.4	NP_001448.2:p.(Glu2019Lys)	NC_000003.11:g.58134543G>A	VUS	1 lab	d71d2c3ae2
17:7411760 POLR2A T>C	17	7411760	7411760	T	C	POLR2A	c.3431T>C	NM_000937.5	NP_000928.1:p.(Leu1144Ser)	NC_000017.10:g.7411760T>C	VUS	1 lab	d71e2ebaa7
3:143691291 DIPK2A G>A	3	143691291	143691291	G	A	DIPK2A	c.117G>A	NM_173552.5	NP_775823.1:p.(Trp39Ter)	NC_000003.11:g.143691291G>A	VUS	1 lab	d71e3bfb25
1:35454098 ZMYM6 G>A	1	35454098	35454098	G	A	ZMYM6	c.2585C>T	NM_007167.4	NP_009098.3:p.(Ser862Leu)	NC_000001.10:g.35454098G>A	VUS	1 lab	d71e44d9ce
4:6296931 WFS1 C>A	4	6296931	6296931	C	A	WFS1	c.861+15C>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6296931C>A	(Likely) benign	1 lab	d72024c7d2
19:17893966 FCHO1 C>T	19	17893966	17893966	C	T	FCHO1	c.2078C>T	NM_015122.3	NP_055937.1:p.(Ala693Val)	NC_000019.9:g.17893966C>T	(Likely) benign	1 lab	d7236d8450
X:108906490 ACSL4 CA>C	X	108906490	108906494	CA	C	ACSL4	c.1531del	NM_004458.3	NP_004449.1:p.(Cys511AlafsTer17)	NC_000023.10:g.108906494del	(Likely) pathogenic	1 lab	2c28408e08
19:48183012 BICRA GCC>G	19	48183012	48183015	GCC	G	BICRA	c.587_588del	NM_001394372.1	NP_001381301.1:p.(Pro196LeufsTer477)	NC_000019.9:g.48183014_48183015del	VUS	1 lab	d723f62b32
8:125033889 FER1L6 A>G	8	125033889	125033889	A	G	FER1L6	c.2113A>G	NM_001039112.2	NP_001034201.2:p.(Ile705Val)	NC_000008.10:g.125033889A>G	(Likely) benign	1 lab	d7248fa853
6:157521872 ARID1B C>A	6	157521872	157521872	C	A	ARID1B	c.4513C>A	NM_001374828.1	NP_001361757.1:p.(Pro1505Thr)	NC_000006.11:g.157521872C>A	VUS	1 lab	d724c62121
6:16327900 ATXN1 CTGCTGCTGATGCTGA>C	6	16327900	16327923	CTGCTGCTGATGCTGA	C	ATXN1	c.627_641del	NM_001128164.2	NP_001121636.1:p.(His209_Gln213del)	NC_000006.11:g.16327909_16327923del	(Likely) benign	1 lab	d724ee908c
8:144990734 PLEC C>T	8	144990734	144990734	C	T	PLEC	c.13255G>A	NM_201384.3	NP_958786.1:p.(Ala4419Thr)	NC_000008.10:g.144990734C>T	(Likely) benign	1 lab	d72527c443
6:109702767 CD164 T>A	6	109702767	109702767	T	A	CD164	c.175+640A>T	NM_006016.6	NP_006007.2:p.?	NC_000006.11:g.109702767T>A	(Likely) benign	1 lab	d726862e97
7:107204416 DUS4L G>GGC	7	107204416	107204417	G	GGC	DUS4L	c.-349_-348insGC	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204416_107204417insGC	(Likely) benign	1 lab	d72793e44a
19:18900844 COMP G>T	19	18900844	18900844	G	T	COMP	c.297C>A	NM_000095.3	NP_000086.2:p.(Gly99=)	NC_000019.9:g.18900844G>T	(Likely) benign	1 lab	d728be0fb0
18:44560413 KATNAL2 C>G	18	44560413	44560413	C	G	KATNAL2	c.52-12415C>G	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44560413C>G	VUS	1 lab	d72b3012be
2:238253397 COL6A3 G>A	2	238253397	238253397	G	A	COL6A3	c.7264C>T	NM_004369.4	NP_004360.2:p.(Arg2422Ter)	NC_000002.11:g.238253397G>A	(Likely) pathogenic	1 lab	d72e0bc2c0
21:45472312 TRAPPC10 T>C	21	45472312	45472312	T	C	TRAPPC10	c.437T>C	NM_003274.5	NP_003265.3:p.(Ile146Thr)	NC_000021.8:g.45472312T>C	VUS	1 lab	d72e22b4e6
6:34392993 RPS10 C>T	6	34392993	34392993	C	T	RPS10	c.6G>A	NM_001014.5	NP_001005.1:p.(Leu2=)	NC_000006.11:g.34392993C>T	(Likely) benign	1 lab	d72e293c5c
15:49059406 CEP152 C>T	15	49059406	49059406	C	T	CEP152	c.2148-17G>A	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49059406C>T	(Likely) pathogenic	1 lab	d72ea60069
1:11861448 MTHFR C>T	1	11861448	11861448	C	T	MTHFR	c.245G>A	NM_005957.5	NP_005948.3:p.(Arg82Gln)	NC_000001.10:g.11861448C>T	VUS	1 lab	d72f1cbf33
5:149434891 CSF1R G>T	5	149434891	149434891	G	T	CSF1R	c.2563C>A	NM_001288705.3	NP_001275634.1:p.(Pro855Thr)	NC_000005.9:g.149434891G>T	(Likely) pathogenic	1 lab	d72fc86e22
14:20295980 OR4N2 G>A	14	20295980	20295980	G	A	OR4N2	c.373G>A	NM_001004723.3	NP_001004723.1:p.(Ala125Thr)	NC_000014.8:g.20295980G>A	VUS	1 lab	d7305992d3
1:43213903 P3H1 T>G	1	43213903	43213903	T	G	P3H1	c.1806A>C	NM_022356.4	NP_071751.3:p.(Lys602Asn)	NC_000001.10:g.43213903T>G	VUS	1 lab	d731f54a05
2:190316607 WDR75 A>G	2	190316607	190316607	A	G	WDR75	c.359A>G	NM_032168.3	NP_115544.1:p.(Asn120Ser)	NC_000002.11:g.190316607A>G	VUS	1 lab	d73378a7d6
16:89351400 ANKRD11 G>T	16	89351400	89351400	G	T	ANKRD11	c.1550C>A	NM_013275.6	NP_037407.4:p.(Ser517Tyr)	NC_000016.9:g.89351400G>T	(Likely) benign	1 lab	d73b3199bb
4:5758029 EVC G>T	4	5758029	5758029	G	T	EVC	c.1503G>T	NM_153717.3	NP_714928.1:p.(Gln501His)	NC_000004.11:g.5758029G>T	(Likely) benign	1 lab	d73b9c8461
11:99690483 CNTN5 C>CAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA	11	99690483	99690484	C	CAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA	CNTN5	c.264_265insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA	NM_014361.4	NP_055176.1:p.(Phe89AsnfsTer2)	NC_000011.9:g.99690483_99690484insAACTGAGGAACCAGGCATTATTTTGTCGATAGATCCAAAATTGACAAAGGTAGACAACATCTAGAAAATGTTA	(Likely) benign	1 lab	d73c2b8fe9
12:49444933 KMT2D G>A	12	49444933	49444933	G	A	KMT2D	c.2533C>T	NM_003482.4	NP_003473.3:p.(Arg845Trp)	NC_000012.11:g.49444933G>A	(Likely) benign	1 lab	d73ca91b80
3:37042542 MLH1 G>A	3	37042542	37042542	G	A	MLH1	c.304G>A	NM_000249.4	NP_000240.1:p.(Glu102Lys)	NC_000003.11:g.37042542G>A	(Likely) pathogenic	1 lab	d73d240638
10:102289518 NDUFB8 G>A	10	102289518	102289518	G	A	NDUFB8	c.85+6C>T	NM_005004.4	NP_004995.1:p.?	NC_000010.10:g.102289518G>A	(Likely) benign	1 lab	d73e8a4b10
8:101717832 PABPC1 G>C	8	101717832	101717832	G	C	PABPC1	c.1672C>G	NM_002568.4	NP_002559.2:p.(Gln558Glu)	NC_000008.10:g.101717832G>C	VUS	1 lab	d7414037ab
2:166747029 TTC21B C>G	2	166747029	166747029	C	G	TTC21B	c.3223G>C	NM_024753.5	NP_079029.3:p.(Val1075Leu)	NC_000002.11:g.166747029C>G	(Likely) benign	1 lab	d74214b015
10:61833179 ANK3 T>G	10	61833179	61833179	T	G	ANK3	c.7460A>C	NM_020987.5	NP_066267.2:p.(His2487Pro)	NC_000010.10:g.61833179T>G	(Likely) benign	1 lab	d743cf7988
X:107978221 IRS4 T>C	X	107978221	107978221	T	C	IRS4	c.1354A>G	NM_001379150.1	NP_001366079.1:p.(Asn452Asp)	NC_000023.10:g.107978221T>C	(Likely) benign	1 lab	d744d3270c
5:149360696 SLC26A2 A>G	5	149360696	149360696	A	G	SLC26A2	c.1540A>G	NM_000112.4	NP_000103.2:p.(Ile514Val)	NC_000005.9:g.149360696A>G	VUS	1 lab	d744d4562b
5:180057584 FLT4 G>A	5	180057584	180057584	G	A	FLT4	c.371C>T	NM_182925.5	NP_891555.2:p.(Thr124Met)	NC_000005.9:g.180057584G>A	VUS	1 lab	2e326a65b3
2:179417867 TTN T>G	2	179417867	179417867	T	G	TTN	c.89760A>C	NM_001267550.2	NP_001254479.2:p.(Glu29920Asp)	NC_000002.11:g.179417867T>G	VUS	1 lab	d747135df0
14:23889398 MYH7 C>A	14	23889398	23889398	C	A	MYH7	c.3382G>T	NM_000257.4	NP_000248.2:p.(Ala1128Ser)	NC_000014.8:g.23889398C>A	VUS	1 lab	d747d68861
11:61537958 MYRF C>T	11	61537958	61537958	C	T	MYRF	c.701C>T	NM_001127392.3	NP_001120864.1:p.(Ser234Phe)	NC_000011.9:g.61537958C>T	VUS	1 lab	d74846eadc
13:32912902 BRCA2 A>C	13	32912902	32912902	A	C	BRCA2	c.4410A>C	NM_000059.4	NP_000050.3:p.(Ile1470=)	NC_000013.10:g.32912902A>C	VUS	1 lab	d7499b04f9
16:67198057 FBXL8 A>T	16	67198057	67198057	A	T	FBXL8	c.*334A>T	NM_018378.3	NP_060848.2:p.?	NC_000016.9:g.67198057A>T	(Likely) benign	1 lab	d74a4d012d
1:113253948 PPM1J C>G	1	113253948	113253948	C	G	PPM1J	c.986G>C	NM_005167.7	NP_005158.5:p.(Arg329Thr)	NC_000001.10:g.113253948C>G	VUS	1 lab	d74ae683f2
19:4816573 TICAM1 C>G	19	4816573	4816573	C	G	TICAM1	c.1817G>C	NM_182919.4	NP_891549.1:p.(Arg606Pro)	NC_000019.9:g.4816573C>G	VUS	1 lab	d74d2c2d3a
2:27565857 GTF3C2 C>G	2	27565857	27565857	C	G	GTF3C2	c.405G>C	NM_001035521.3	NP_001030598.1:p.(Leu135=)	NC_000002.11:g.27565857C>G	VUS	1 lab	d74d2da461
X:106016268 RNF128 A>T	X	106016268	106016268	A	T	RNF128	c.610A>T	NM_194463.2	NP_919445.1:p.(Asn204Tyr)	NC_000023.10:g.106016268A>T	(Likely) benign	1 lab	d74d5375c7
17:10547757 MYH3 C>T	17	10547757	10547757	C	T	MYH3	c.1321G>A	NM_002470.4	NP_002461.2:p.(Val441Ile)	NC_000017.10:g.10547757C>T	VUS	1 lab	d74d711e2d
6:31827912 NEU1 C>T	6	31827912	31827912	C	T	NEU1	c.928G>A	NM_000434.4	NP_000425.1:p.(Asp310Asn)	NC_000006.11:g.31827912C>T	VUS	1 lab	d74ee8ba5e
1:8419911 RERE T>G	1	8419911	8419911	T	G	RERE	c.3531A>C	NM_001042681.2	NP_001036146.1:p.(Lys1177Asn)	NC_000001.10:g.8419911T>G	VUS	1 lab	d74fce207d
10:88476186 LDB3 A>C	10	88476186	88476186	A	C	LDB3	c.1334A>C	NM_007078.3	NP_009009.1:p.(Tyr445Ser)	NC_000010.10:g.88476186A>C	(Likely) benign	1 lab	d750794116
1:152275789 FLG C>T	1	152275789	152275789	C	T	FLG	c.11573G>A	NM_002016.2	NP_002007.1:p.(Arg3858His)	NC_000001.10:g.152275789C>T	(Likely) benign	1 lab	d7533122b4
11:64337212 SLC22A11 C>G	11	64337212	64337212	C	G	SLC22A11	c.1471C>G	NM_018484.4	NP_060954.1:p.(Leu491Val)	NC_000011.9:g.64337212C>G	(Likely) benign	1 lab	d754aa3515
X:149937538 CD99L2 G>A	X	149937538	149937538	G	A	CD99L2	c.758C>T	NM_031462.4	NP_113650.2:p.(Pro253Leu)	NC_000023.10:g.149937538G>A	(Likely) benign	1 lab	d755e9cd8f
16:30745101 SRCAP G>A	16	30745101	30745101	G	A	SRCAP	c.6476G>A	NM_006662.3	NP_006653.2:p.(Arg2159Gln)	NC_000016.9:g.30745101G>A	VUS	1 lab	d75696f2f4
20:43042445 HNF4A C>T	20	43042445	43042445	C	T	HNF4A	c.492+5C>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43042445C>T	(Likely) benign	1 lab	d756cb4fb7
5:137733881 KDM3B G>A	5	137733881	137733881	G	A	KDM3B	c.2846G>A	NM_016604.4	NP_057688.3:p.(Arg949Gln)	NC_000005.9:g.137733881G>A	(Likely) benign	1 lab	d756d0eb84
19:1461125 APC2 G>A	19	1461125	1461125	G	A	APC2	c.1611G>A	NM_005883.3	NP_005874.1:p.(Leu537=)	NC_000019.9:g.1461125G>A	(Likely) benign	1 lab	d77577132d
X:24329884 SUPT20HL2 AAGCAGGAGCAGCAGCAGGAGCAGGAGCAGGAGCAGGAGCAGCAGCAGCTAC>A	X	24329884	24329954	AAGCAGGAGCAGCAGCAGGAGCAGGAGCAGGAGCAGGAGCAGCAGCAGCTAC	A	SUPT20HL2	c.1498_1548del	NM_001136233.3	NP_001129705.3:p.(Val500_Ala516del)	NC_000023.10:g.24329904_24329954del	(Likely) benign	1 lab	d757a78f80
X:79277760 TBX22 C>A	X	79277760	79277760	C	A	TBX22	c.-2-7C>A	NM_001109878.2	NP_001103348.1:p.?	NC_000023.10:g.79277760C>A	(Likely) benign	1 lab	d757e81634
X:40556341 MED14 G>C	X	40556341	40556341	G	C	MED14	c.1585C>G	NM_004229.4	NP_004220.2:p.(Pro529Ala)	NC_000023.10:g.40556341G>C	VUS	1 lab	d758e123ed
17:42992619 GFAP C>A	17	42992619	42992619	C	A	GFAP	c.236G>T	NM_002055.5	NP_002046.1:p.(Arg79Leu)	NC_000017.10:g.42992619C>A	(Likely) pathogenic	1 lab	2c31994333
20:61468538 COL9A3 CTCCATTGGTCACCCTGGCGCTCGAGGACCCCCT>C	20	61468538	61468571	CTCCATTGGTCACCCTGGCGCTCGAGGACCCCCT	C	COL9A3	c.1708_1740del	NM_001853.4	NP_001844.3:p.(Ser570_Pro580del)	NC_000020.10:g.61468539_61468571del	VUS	1 lab	d75a859342
19:9047084 MUC16 G>C	19	9047084	9047084	G	C	MUC16	c.34667C>G	NM_001401501.2	NP_001388430.1:p.(Thr11556Ser)	NC_000019.9:g.9047084G>C	VUS	1 lab	d75ba0336a
21:31813018 KRTAP15-1 A>G	21	31813018	31813018	A	G	KRTAP15-1	c.373A>G	NM_181623.3	NP_853654.1:p.(Thr125Ala)	NC_000021.8:g.31813018A>G	(Likely) benign	1 lab	d75c129003
16:9927823 GRIN2A C>G	16	9927823	9927823	C	G	GRIN2A	c.1777+139G>C	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9927823C>G	(Likely) benign	1 lab	d75cf5bb1f
19:8650546 ADAMTS10 T>G	19	8650546	8650546	T	G	ADAMTS10	c.2661-2A>C	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8650546T>G	VUS	1 lab	d75db2802c
16:23080313 USP31 C>T	16	23080313	23080313	C	T	USP31	c.3113G>A	NM_020718.4	NP_065769.3:p.(Ser1038Asn)	NC_000016.9:g.23080313C>T	(Likely) benign	1 lab	d75db96440
1:226125204 LEFTY2 C>A	1	226125204	226125204	C	A	LEFTY2	c.1038G>T	NM_003240.5	NP_003231.2:p.(Met346Ile)	NC_000001.10:g.226125204C>A	VUS	1 lab	d760038bb3
19:38931439 RYR1 C>G	19	38931439	38931439	C	G	RYR1	c.100C>G	NM_000540.3	NP_000531.2:p.(Leu34Val)	NC_000019.9:g.38931439C>G	VUS	1 lab	d7618efa85
19:1619758 TCF3 T>TGGGGTGGGGC	19	1619758	1619763	T	TGGGGTGGGGC	TCF3	c.1167+20_1167+21insGCCCCACCCC	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619762_1619763insTGGGGCGGGG	(Likely) benign	1 lab	2e37ac13c3
15:42512333 TMEM87A C>T	15	42512333	42512333	C	T	TMEM87A	c.1404G>A	NM_015497.5	NP_056312.2:p.(Arg468=)	NC_000015.9:g.42512333C>T	VUS	1 lab	d76428c45a
X:140994482 MAGEC1 C>A	X	140994482	140994482	C	A	MAGEC1	c.1292C>A	NM_005462.5	NP_005453.2:p.(Ala431Asp)	NC_000023.10:g.140994482C>A	VUS	1 lab	d76429f7bf
2:24260860 WDCP G>A	2	24260860	24260860	G	A	WDCP	c.1505C>T	NM_025203.3	NP_079479.1:p.(Pro502Leu)	NC_000002.11:g.24260860G>A	(Likely) benign	1 lab	d764719945
8:30702616 TEX15 C>G	8	30702616	30702616	C	G	TEX15	c.5067G>C	NM_001350162.2	NP_001337091.1:p.(Glu1689Asp)	NC_000008.10:g.30702616C>G	(Likely) benign	1 lab	d764858b2c
2:238461048 MLPH G>A	2	238461048	238461048	G	A	MLPH	c.1744G>A	NM_024101.7	NP_077006.1:p.(Ala582Thr)	NC_000002.11:g.238461048G>A	VUS	1 lab	d765fee1f0
7:107564456 LAMB1 T>A	7	107564456	107564456	T	A	LAMB1	c.5301A>T	NM_002291.3	NP_002282.2:p.(Glu1767Asp)	NC_000007.13:g.107564456T>A	VUS	1 lab	d767aed370
2:157183321 NR4A2 T>C	2	157183321	157183321	T	C	NR4A2	c.1270A>G	NM_006186.4	NP_006177.1:p.(Ile424Val)	NC_000002.11:g.157183321T>C	VUS	1 lab	d768142e06
14:36197612 RALGAPA1 A>C	14	36197612	36197612	A	C	RALGAPA1	c.1692T>G	NM_001346249.2	NP_001333178.1:p.(Ile564Met)	NC_000014.8:g.36197612A>C	VUS	1 lab	d76b357f16
9:93983146 AUH G>A	9	93983146	93983146	G	A	AUH	c.784C>T	NM_001698.3	NP_001689.1:p.(Gln262Ter)	NC_000009.11:g.93983146G>A	(Likely) pathogenic	1 lab	d76ca85dfe
15:67073514 SMAD6 G>T	15	67073514	67073514	G	T	SMAD6	c.1132G>T	NM_005585.5	NP_005576.3:p.(Glu378Ter)	NC_000015.9:g.67073514G>T	(Likely) pathogenic	1 lab	d76ec7f4fb
17:78081664 GAA C>T	17	78081664	78081664	C	T	GAA	c.924C>T	NM_000152.5	NP_000143.2:p.(His308=)	NC_000017.10:g.78081664C>T	VUS	1 lab	d77131aa8a
14:21871247 CHD8 C>G	14	21871247	21871247	C	G	CHD8	c.3643G>C	NM_001170629.2	NP_001164100.1:p.(Gly1215Arg)	NC_000014.8:g.21871247C>G	VUS	1 lab	d773cc30d2
2:210805939 UNC80 T>C	2	210805939	210805939	T	C	UNC80	c.6647-6T>C	NM_001371986.1	NP_001358915.1:p.?	NC_000002.11:g.210805939T>C	(Likely) benign	1 lab	d775a1964d
14:74766974 ABCD4 G>T	14	74766974	74766974	G	T	ABCD4	c.39-3C>A	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74766974G>T	VUS	1 lab	d7774f6e3a
15:66996211 SMAD6 C>A	15	66996211	66996211	C	A	SMAD6	c.615C>A	NM_005585.5	NP_005576.3:p.(Cys205Ter)	NC_000015.9:g.66996211C>A	(Likely) pathogenic	1 lab	d778b7ad43
11:65835811 SF3B2 G>A	11	65835811	65835811	G	A	SF3B2	c.2616+7G>A	NM_006842.3	NP_006833.2:p.?	NC_000011.9:g.65835811G>A	(Likely) benign	1 lab	d7790ebf47
12:48367900 COL2A1 G>A	12	48367900	48367900	G	A	COL2A1	c.4289C>T	NM_001844.5	NP_001835.3:p.(Thr1430Met)	NC_000012.11:g.48367900G>A	VUS	1 lab	d77a12e212
8:100732634 VPS13B A>T	8	100732634	100732634	A	T	VPS13B	c.6719A>T	NM_152564.5	NP_689777.3:p.(Tyr2240Phe)	NC_000008.10:g.100732634A>T	VUS	1 lab	d77bcc947d
17:48432221 XYLT2 G>A	17	48432221	48432221	G	A	XYLT2	c.811G>A	NM_022167.4	NP_071450.2:p.(Asp271Asn)	NC_000017.10:g.48432221G>A	(Likely) benign	1 lab	d77c37200f
16:88747903 SNAI3 C>T	16	88747903	88747903	C	T	SNAI3	c.296G>A	NM_178310.4	NP_840101.1:p.(Arg99Gln)	NC_000016.9:g.88747903C>T	(Likely) benign	1 lab	d77e04d268
X:2825494 ARSD C>T	X	2825494	2825494	C	T	ARSD	c.1600G>A	NM_001669.4	NP_001660.2:p.(Glu534Lys)	NC_000023.10:g.2825494C>T	(Likely) benign	1 lab	d77ea97cd8
3:129214396 IFT122 C>T	3	129214396	129214396	C	T	IFT122	c.2154C>T	NM_052989.3	NP_443715.1:p.(His718=)	NC_000003.11:g.129214396C>T	(Likely) benign	1 lab	d78080c529
9:35802485 NPR2 GT>G	9	35802485	35802492	GT	G	NPR2	c.1711-8del	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802492del	(Likely) benign	1 lab	d7833f4fa1
18:42530731 SETBP1 C>T	18	42530731	42530731	C	T	SETBP1	c.1426C>T	NM_015559.3	NP_056374.2:p.(Pro476Ser)	NC_000018.9:g.42530731C>T	(Likely) benign	1 lab	d783ad5403
1:12336917 VPS13D G>A	1	12336917	12336917	G	A	VPS13D	c.3272G>A	NM_015378.4	NP_056193.2:p.(Cys1091Tyr)	NC_000001.10:g.12336917G>A	(Likely) benign	1 lab	d784868431
2:215852452 ABCA12 C>T	2	215852452	215852452	C	T	ABCA12	c.3895G>A	NM_173076.3	NP_775099.2:p.(Gly1299Arg)	NC_000002.11:g.215852452C>T	VUS	1 lab	d784d9d237
10:120789858 NANOS1 G>A	10	120789858	120789858	G	A	NANOS1	c.545G>A	NM_199461.4	NP_955631.1:p.(Arg182His)	NC_000010.10:g.120789858G>A	(Likely) benign	1 lab	d785bb169e
3:66550756 LRIG1 G>C	3	66550756	66550756	G	C	LRIG1	c.76C>G	NM_015541.3	NP_056356.2:p.(Leu26Val)	NC_000003.11:g.66550756G>C	(Likely) benign	1 lab	d785be8f47
1:1569638 MMP23B T>C	1	1569638	1569638	T	C	MMP23B	c.929T>C	NM_006983.2	NP_008914.1:p.(Leu310Pro)	NC_000001.10:g.1569638T>C	(Likely) benign	1 lab	d785ce1dfd
9:88356721 AGTPBP1 GC>G	9	88356721	88356722	GC	G	AGTPBP1	c.-66del	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88356722del	VUS	1 lab	d785dff059
10:120919235 SFXN4 C>T	10	120919235	120919235	C	T	SFXN4	c.360+5G>A	NM_213649.2	NP_998814.1:p.?	NC_000010.10:g.120919235C>T	VUS	1 lab	d7876c599a
7:127255519 PAX4 C>T	7	127255519	127255519	C	T	PAX4	c.80G>A	NM_001366110.1	NP_001353039.1:p.(Arg27Gln)	NC_000007.13:g.127255519C>T	VUS	1 lab	d787931314
5:149434794 CSF1R G>A	5	149434794	149434794	G	A	CSF1R	c.2654+6C>T	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149434794G>A	(Likely) benign	1 lab	d78818e947
6:152738131 SYNE1 T>C	6	152738131	152738131	T	C	SYNE1	c.5441A>G	NM_182961.4	NP_892006.3:p.(Glu1814Gly)	NC_000006.11:g.152738131T>C	(Likely) benign	1 lab	d78b03dd5d
16:72923722 ZFHX3 C>T	16	72923722	72923722	C	T	ZFHX3	c.3356G>A	NM_006885.4	NP_008816.3:p.(Arg1119Gln)	NC_000016.9:g.72923722C>T	VUS	1 lab	d78b1291d2
7:31003693 GHRHR C>T	7	31003693	31003693	C	T	GHRHR	c.10C>T	NM_000823.4	NP_000814.2:p.(Arg4Trp)	NC_000007.13:g.31003693C>T	(Likely) benign	1 lab	d78c288d54
9:21971024 CDKN2A G>C	9	21971024	21971024	G	C	CDKN2A	c.334C>G	NM_000077.5	NP_000068.1:p.(Arg112Gly)	NC_000009.11:g.21971024G>C	(Likely) pathogenic	1 lab	d79431990e
14:24724262 TGM1 A>G	14	24724262	24724262	A	G	TGM1	c.1843T>C	NM_000359.3	NP_000350.1:p.(Tyr615His)	NC_000014.8:g.24724262A>G	VUS	1 lab	d7954402ff
7:107543933 DLD A>G	7	107543933	107543933	A	G	DLD	c.278A>G	NM_000108.5	NP_000099.2:p.(Asn93Ser)	NC_000007.13:g.107543933A>G	VUS	1 lab	d797347e42
X:154090138 F8 C>T	X	154090138	154090138	C	T	F8	c.6578G>A	NM_000132.3	NP_000123.1:p.(Cys2193Tyr)	NC_000023.10:g.154090138C>T	(Likely) pathogenic	1 lab	2e3ab9ce79
21:38890501 DYRK1A G>A	21	38890501	38890501	G	A	DYRK1A	c.*5667G>A	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38890501G>A	VUS	1 lab	d798cbbcb0
4:85678281 WDFY3 G>A	4	85678281	85678281	G	A	WDFY3	c.5222C>T	NM_014991.6	NP_055806.2:p.(Ser1741Leu)	NC_000004.11:g.85678281G>A	(Likely) benign	1 lab	d79d206c07
2:179441869 TTN A>AG	2	179441869	179441872	A	AG	TTN	c.69192dup	NM_001267550.2	NP_001254479.2:p.(Glu23066GlyfsTer8)	NC_000002.11:g.179441872dup	(Likely) pathogenic	1 lab	2c380f8053
16:67233595 ELMO3 T>G	16	67233595	67233595	T	G	ELMO3	c.128T>G	NM_024712.5	NP_078988.3:p.(Leu43Arg)	NC_000016.9:g.67233595T>G	VUS	1 lab	d79e158b36
19:39017695 RYR1 A>G	19	39017695	39017695	A	G	RYR1	c.10686+3A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39017695A>G	VUS	1 lab	d79eb7c5b1
14:70477493 SMOC1 G>T	14	70477493	70477493	G	T	SMOC1	c.687G>T	NM_001034852.3	NP_001030024.1:p.(Gln229His)	NC_000014.8:g.70477493G>T	VUS	1 lab	d7a05dcebc
12:121437169 HNF1A G>T	12	121437169	121437169	G	T	HNF1A	c.1600G>T	NM_000545.8	NP_000536.6:p.(Ala534Ser)	NC_000012.11:g.121437169G>T	(Likely) benign	1 lab	d7a0eaaae7
3:122274392 PARP9 A>G	3	122274392	122274392	A	G	PARP9	c.626T>C	NM_001146105.2	NP_001139577.1:p.(Phe209Ser)	NC_000003.11:g.122274392A>G	VUS	1 lab	d7a1bccd12
9:441362 DOCK8 A>C	9	441362	441362	A	C	DOCK8	c.5300A>C	NM_203447.4	NP_982272.2:p.(Lys1767Thr)	NC_000009.11:g.441362A>C	VUS	1 lab	d7a3b7ec12
2:152220510 TNFAIP6 A>G	2	152220510	152220510	A	G	TNFAIP6	c.148A>G	NM_007115.4	NP_009046.2:p.(Thr50Ala)	NC_000002.11:g.152220510A>G	(Likely) benign	1 lab	d7a3e3e87e
3:49867504 TRAIP A>G	3	49867504	49867504	A	G	TRAIP	c.1038-3T>C	NM_005879.3	NP_005870.2:p.?	NC_000003.11:g.49867504A>G	VUS	1 lab	d7a432ded3
1:158226060 CD1A C>T	1	158226060	158226060	C	T	CD1A	c.592C>T	NM_001763.3	NP_001754.2:p.(Leu198Phe)	NC_000001.10:g.158226060C>T	VUS	1 lab	d7a56858ce
19:51988257 CEACAM18 C>T	19	51988257	51988257	C	T	CEACAM18	c.970C>T	NM_001405061.1	NP_001391990.1:p.(Pro324Ser)	NC_000019.9:g.51988257C>T	(Likely) benign	1 lab	d7a62e7524
17:62019110 SCN4A G>A	17	62019110	62019110	G	A	SCN4A	c.4532C>T	NM_000334.4	NP_000325.4:p.(Ser1511Leu)	NC_000017.10:g.62019110G>A	VUS	1 lab	d7a68d83b4
14:23899040 MYH7 T>A	14	23899040	23899040	T	A	MYH7	c.1082A>T	NM_000257.4	NP_000248.2:p.(Asn361Ile)	NC_000014.8:g.23899040T>A	VUS	1 lab	d7ac03baed
15:80465394 FAH C>T	15	80465394	80465394	C	T	FAH	c.745C>T	NM_000137.4	NP_000128.1:p.(Pro249Ser)	NC_000015.9:g.80465394C>T	(Likely) pathogenic	1 lab	d7af041c27
6:74308682 SLC17A5 G>T	6	74308682	74308682	G	T	SLC17A5	c.1350+1392C>A	NM_012434.5	NP_036566.1:p.?	NC_000006.11:g.74308682G>T	VUS	1 lab	d7af743c5b
8:42174320 IKBKB A>T	8	42174320	42174320	A	T	IKBKB	c.1023A>T	NM_001556.3	NP_001547.1:p.(Gln341His)	NC_000008.10:g.42174320A>T	(Likely) benign	1 lab	d7afc976e8
X:100809189 ARMCX1 G>C	X	100809189	100809189	G	C	ARMCX1	c.1276G>C	NM_016608.2	NP_057692.1:p.(Val426Leu)	NC_000023.10:g.100809189G>C	(Likely) benign	1 lab	d7afd21850
6:152590383 SYNE1 TA>T	6	152590383	152590384	TA	T	SYNE1	c.18611del	NM_182961.4	NP_892006.3:p.(Leu6204GlnfsTer34)	NC_000006.11:g.152590384del	VUS	1 lab	d7b06c719d
10:70231557 DNA2 G>C	10	70231557	70231557	G	C	DNA2	c.65C>G	NM_001080449.3	NP_001073918.2:p.(Pro22Arg)	NC_000010.10:g.70231557G>C	(Likely) benign	1 lab	d7b0b654fd
X:71351213 NHSL2 T>C	X	71351213	71351213	T	C	NHSL2	c.281-716T>C	NM_001013627.3	NP_001013649.2:p.?	NC_000023.10:g.71351213T>C	(Likely) benign	1 lab	d7b11f70c3
X:73745675 SLC16A2 G>A	X	73745675	73745675	G	A	SLC16A2	c.1117G>A	NM_006517.5	NP_006508.2:p.(Val373Met)	NC_000023.10:g.73745675G>A	VUS	1 lab	d7b1907deb
12:110781147 ATP2A2 C>G	12	110781147	110781147	C	G	ATP2A2	c.2429C>G	NM_170665.4	NP_733765.1:p.(Pro810Arg)	NC_000012.11:g.110781147C>G	VUS	1 lab	d7b24f1b61
19:46307742 RSPH6A G>A	19	46307742	46307742	G	A	RSPH6A	c.1421C>T	NM_030785.4	NP_110412.1:p.(Pro474Leu)	NC_000019.9:g.46307742G>A	VUS	1 lab	d7b2f4d2ad
18:33877859 FHOD3 A>G	18	33877859	33877859	A	G	FHOD3	c.61A>G	NM_025135.5	NP_079411.2:p.(Asn21Asp)	NC_000018.9:g.33877859A>G	VUS	1 lab	2c3954a0bd
5:141014382 HDAC3 C>T	5	141014382	141014382	C	T	HDAC3	c.277G>A	NM_003883.4	NP_003874.2:p.(Asp93Asn)	NC_000005.9:g.141014382C>T	VUS	1 lab	d7b38f5867
14:45542625 TOGARAM1 G>A	14	45542625	45542625	G	A	TOGARAM1	c.5183G>A	NM_001308120.2	NP_001295049.1:p.(Arg1728Gln)	NC_000014.8:g.45542625G>A	VUS	1 lab	d7b3bd8ded
16:4852458 ROGDI C>T	16	4852458	4852458	C	T	ROGDI	c.46-4G>A	NM_024589.3	NP_078865.1:p.?	NC_000016.9:g.4852458C>T	VUS	1 lab	d7b4a48721
16:3024281 PKMYT1 C>T	16	3024281	3024281	C	T	PKMYT1	c.1117G>A	NM_004203.5	NP_004194.3:p.(Ala373Thr)	NC_000016.9:g.3024281C>T	VUS	1 lab	d7b59dc61a
14:20846927 TEP1 C>G	14	20846927	20846927	C	G	TEP1	c.5338G>C	NM_007110.5	NP_009041.2:p.(Gly1780Arg)	NC_000014.8:g.20846927C>G	(Likely) benign	1 lab	d7b6342fec
22:26348393 MYO18B C>T	22	26348393	26348393	C	T	MYO18B	c.5970+4C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26348393C>T	VUS	1 lab	d7b7e064dd
9:134397475 POMT1 G>A	9	134397475	134397475	G	A	POMT1	c.1867G>A	NM_001077365.2	NP_001070833.1:p.(Gly623Ser)	NC_000009.11:g.134397475G>A	VUS	1 lab	d7b8437bbd
19:48480044 BSPH1 C>T	19	48480044	48480044	C	T	BSPH1	c.324G>A	NM_001128326.2	NP_001121798.1:p.(Gly108=)	NC_000019.9:g.48480044C>T	VUS	1 lab	d7ba655512
16:51175657 SALL1 CTG>C	16	51175657	51175659	CTG	C	SALL1	c.474_475del	NM_002968.3	NP_002959.2:p.(Ser158ArgfsTer111)	NC_000016.9:g.51175658_51175659del	VUS	1 lab	d7bb45c912
1:226111454 PYCR2 T>C	1	226111454	226111454	T	C	PYCR2	c.85A>G	NM_013328.4	NP_037460.2:p.(Lys29Glu)	NC_000001.10:g.226111454T>C	(Likely) benign	1 lab	d7bb51b5bc
9:34657512 IL11RA C>T	9	34657512	34657512	C	T	IL11RA	c.574C>T	NM_001142784.3	NP_001136256.1:p.(Arg192Trp)	NC_000009.11:g.34657512C>T	VUS	1 lab	d7bc647356
21:47754524 PCNT G>A	21	47754524	47754524	G	A	PCNT	c.481G>A	NM_006031.6	NP_006022.3:p.(Val161Ile)	NC_000021.8:g.47754524G>A	VUS	1 lab	d7be13e6b6
5:36985729 NIPBL G>A	5	36985729	36985729	G	A	NIPBL	c.2447G>A	NM_133433.4	NP_597677.2:p.(Arg816His)	NC_000005.9:g.36985729G>A	(Likely) benign	1 lab	d7c0231288
4:88537069 DSPP T>TGATAGC	4	88537069	88537075	T	TGATAGC	DSPP	c.3256_3261dup	NM_014208.3	NP_055023.2:p.(Asp1086_Ser1087dup)	NC_000004.11:g.88537070_88537075dup	(Likely) benign	1 lab	d7c0cc814b
10:78761302 KCNMA1 C>T	10	78761302	78761302	C	T	KCNMA1	c.2129G>A	NM_001161352.2	NP_001154824.1:p.(Cys710Tyr)	NC_000010.10:g.78761302C>T	(Likely) benign	1 lab	d7c11142fd
1:43393285 SLC2A1 C>A	1	43393285	43393285	C	A	SLC2A1	c.1269G>T	NM_006516.4	NP_006507.2:p.(Gln423His)	NC_000001.10:g.43393285C>A	VUS	1 lab	d7c149a33a
19:1482902 PCSK4 G>T	19	1482902	1482902	G	T	PCSK4	c.1689C>A	NM_017573.5	NP_060043.2:p.(Phe563Leu)	NC_000019.9:g.1482902G>T	VUS	1 lab	d7c16ff84a
14:77767443 POMT2 C>T	14	77767443	77767443	C	T	POMT2	c.806G>A	NM_013382.7	NP_037514.2:p.(Ser269Asn)	NC_000014.8:g.77767443C>T	(Likely) benign	1 lab	d7c1c3a7fc
2:166165225 SCN2A G>T	2	166165225	166165225	G	T	SCN2A	c.526G>T	NM_001040142.2	NP_001035232.1:p.(Ala176Ser)	NC_000002.11:g.166165225G>T	VUS	1 lab	d7c1f828fb
19:10923045 DNM2 G>A	19	10923045	10923045	G	A	DNM2	c.1663G>A	NM_001005361.3	NP_001005361.1:p.(Asp555Asn)	NC_000019.9:g.10923045G>A	VUS	1 lab	d7c2ab9fe0
6:79655853 PHIP C>G	6	79655853	79655853	C	G	PHIP	c.4495G>C	NM_017934.7	NP_060404.4:p.(Glu1499Gln)	NC_000006.11:g.79655853C>G	(Likely) benign	1 lab	d7c2f42852
21:47773050 PCNT C>A	21	47773050	47773050	C	A	PCNT	c.1489C>A	NM_006031.6	NP_006022.3:p.(Arg497Ser)	NC_000021.8:g.47773050C>A	(Likely) benign	1 lab	d7c2fd3c8e
20:60639758 TAF4 G>C	20	60639758	60639758	G	C	TAF4	c.1109C>G	NM_003185.4	NP_003176.2:p.(Ala370Gly)	NC_000020.10:g.60639758G>C	(Likely) benign	1 lab	d7c390f563
7:72892883 BAZ1B G>A	7	72892883	72892883	G	A	BAZ1B	c.908C>T	NM_032408.4	NP_115784.1:p.(Pro303Leu)	NC_000007.13:g.72892883G>A	VUS	1 lab	d821299120
22:42609383 TCF20 CCCA>C	22	42609383	42609389	CCCA	C	TCF20	c.1926_1928del	NM_001378418.1	NP_001365347.1:p.(Gly643del)	NC_000022.10:g.42609387_42609389del	(Likely) benign	1 lab	d7c4aa0c1f
10:13749342 FRMD4A T>G	10	13749342	13749342	T	G	FRMD4A	c.760-229A>C	NM_018027.5	NP_060497.3:p.?	NC_000010.10:g.13749342T>G	(Likely) benign	1 lab	d7c4ca5d4d
17:7750748 KDM6B G>T	17	7750748	7750748	G	T	KDM6B	c.1235G>T	NM_001348716.2	NP_001335645.1:p.(Gly412Val)	NC_000017.10:g.7750748G>T	(Likely) benign	1 lab	d7c643823d
6:29637986 MOG C>T	6	29637986	29637986	C	T	MOG	c.593-72C>T	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29637986C>T	(Likely) benign	1 lab	d7c9d4df94
12:6626147 NCAPD2 C>T	12	6626147	6626147	C	T	NCAPD2	c.1141C>T	NM_014865.4	NP_055680.3:p.(Arg381Trp)	NC_000012.11:g.6626147C>T	VUS	1 lab	d7ca90fd85
15:75189484 MPI C>G	15	75189484	75189484	C	G	MPI	c.977C>G	NM_002435.3	NP_002426.1:p.(Pro326Arg)	NC_000015.9:g.75189484C>G	VUS	1 lab	d7cac60118
1:152282092 FLG T>C	1	152282092	152282092	T	C	FLG	c.5270A>G	NM_002016.2	NP_002007.1:p.(Glu1757Gly)	NC_000001.10:g.152282092T>C	(Likely) benign	1 lab	d7cb5cd6e5
7:83035282 SEMA3E C>G	7	83035282	83035282	C	G	SEMA3E	c.907G>C	NM_012431.3	NP_036563.1:p.(Asp303His)	NC_000007.13:g.83035282C>G	VUS	1 lab	d7ce17a447
4:1742701 TACC3 G>C	4	1742701	1742701	G	C	TACC3	c.2211G>C	NM_006342.3	NP_006333.1:p.(Glu737Asp)	NC_000004.11:g.1742701G>C	(Likely) benign	1 lab	d7cf3a575a
X:103430850 FAM199X G>A	X	103430850	103430850	G	A	FAM199X	c.521G>A	NM_207318.4	NP_997201.1:p.(Arg174Gln)	NC_000023.10:g.103430850G>A	VUS	1 lab	d7cf984649
3:196749829 MELTF G>A	3	196749829	196749829	G	A	MELTF	c.643C>T	NM_005929.6	NP_005920.2:p.(Arg215Trp)	NC_000003.11:g.196749829G>A	(Likely) benign	1 lab	d7d0713471
16:30388306 MYL11 G>A	16	30388306	30388306	G	A	MYL11	c.356+287G>A	NM_013292.5	NP_037424.2:p.?	NC_000016.9:g.30388306G>A	(Likely) benign	1 lab	d7d1de18e0
12:52201160 SCN8A GGAA>G	12	52201160	52201167	GGAA	G	SCN8A	c.5895_5897del	NM_001330260.2	NP_001317189.1:p.(Arg1966del)	NC_000012.11:g.52201165_52201167del	VUS	1 lab	d7d2aabc47
2:165970370 SCN3A C>G	2	165970370	165970370	C	G	SCN3A	c.3625G>C	NM_006922.4	NP_008853.3:p.(Glu1209Gln)	NC_000002.11:g.165970370C>G	VUS	1 lab	2c3c3b56cd
3:9976519 CRELD1 G>A	3	9976519	9976519	G	A	CRELD1	c.175G>A	NM_001077415.3	NP_001070883.2:p.(Gly59Ser)	NC_000003.11:g.9976519G>A	VUS	1 lab	d7d3d9c380
15:74363922 GOLGA6A G>T	15	74363922	74363922	G	T	GOLGA6A	c.1669C>A	NM_001038640.2	NP_001033729.2:p.(Gln557Lys)	NC_000015.9:g.74363922G>T	VUS	1 lab	d7d6e048f7
4:102015069 PPP3CA C>T	4	102015069	102015069	C	T	PPP3CA	c.646G>A	NM_000944.5	NP_000935.1:p.(Asp216Asn)	NC_000004.11:g.102015069C>T	(Likely) benign	1 lab	d7d8439bed
5:176666789 NSD1 AC>A	5	176666789	176666790	AC	A	NSD1	c.4226del	NM_022455.5	NP_071900.2:p.(Thr1409IlefsTer10)	NC_000005.9:g.176666790del	(Likely) pathogenic	1 lab	d7d8df9b9b
3:53226177 PRKCD G>A	3	53226177	53226177	G	A	PRKCD	c.1926G>A	NM_006254.4	NP_006245.2:p.(Ala642=)	NC_000003.11:g.53226177G>A	(Likely) benign	1 lab	d7dc43462e
9:27197444 TEK A>G	9	27197444	27197444	A	G	TEK	c.1756A>G	NM_000459.5	NP_000450.3:p.(Ser586Gly)	NC_000009.11:g.27197444A>G	VUS	1 lab	d8029bc34e
1:8757738 RERE C>T	1	8757738	8757738	C	T	RERE	c.-144-41238G>A	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8757738C>T	(Likely) benign	1 lab	d7ddd8feaf
1:43852328 MED8 C>T	1	43852328	43852328	C	T	MED8	c.425G>A	NM_201542.5	NP_963836.2:p.(Ser142Asn)	NC_000001.10:g.43852328C>T	VUS	1 lab	d7de7c0ba9
8:144999571 PLEC C>T	8	144999571	144999571	C	T	PLEC	c.4526G>A	NM_201384.3	NP_958786.1:p.(Arg1509His)	NC_000008.10:g.144999571C>T	VUS	1 lab	d7dff1d671
12:110234452 TRPV4 G>A	12	110234452	110234452	G	A	TRPV4	c.1210C>T	NM_021625.5	NP_067638.3:p.(Arg404Cys)	NC_000012.11:g.110234452G>A	VUS	1 lab	d7e14e86bd
8:22059342 BMP1 G>A	8	22059342	22059342	G	A	BMP1	c.2134G>A	NM_006129.5	NP_006120.1:p.(Gly712Ser)	NC_000008.10:g.22059342G>A	VUS	1 lab	d7e1c0f573
1:144859889 PDE4DIP G>T	1	144859889	144859889	G	T	PDE4DIP	c.6393C>A	NM_001395426.1	NP_001382355.1:p.(Asn2131Lys)	NC_000001.10:g.144859889G>T	(Likely) benign	1 lab	d7e24d445e
3:9783865 BRPF1 C>T	3	9783865	9783865	C	T	BRPF1	c.2001+10C>T	NM_001003694.2	NP_001003694.1:p.?	NC_000003.11:g.9783865C>T	(Likely) benign	1 lab	d7e287c890
12:109316564 SVOP C>T	12	109316564	109316564	C	T	SVOP	c.1058G>A	NM_018711.5	NP_061181.1:p.(Arg353Gln)	NC_000012.11:g.109316564C>T	VUS	1 lab	d7e3419370
2:69553375 GFPT1 G>A	2	69553375	69553375	G	A	GFPT1	c.2056-10C>T	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553375G>A	(Likely) benign	1 lab	d7e42ce522
10:89474792 PAPSS2 G>A	10	89474792	89474792	G	A	PAPSS2	c.690G>A	NM_001015880.2	NP_001015880.1:p.(Pro230=)	NC_000010.10:g.89474792G>A	(Likely) benign	1 lab	d7e69c4d4d
2:74474231 SLC4A5 G>C	2	74474231	74474231	G	C	SLC4A5	c.1991C>G	NM_133478.3	NP_597812.1:p.(Pro664Arg)	NC_000002.11:g.74474231G>C	VUS	1 lab	d7e7c792ec
7:122809232 SLC13A1 C>T	7	122809232	122809232	C	T	SLC13A1	c.523G>A	NM_022444.4	NP_071889.2:p.(Gly175Arg)	NC_000007.13:g.122809232C>T	VUS	1 lab	d7eb173a06
7:101848404 CUX1 C>T	7	101848404	101848404	C	T	CUX1	c.3084C>T	NM_181552.4	NP_853530.2:p.(Ser1028=)	NC_000007.13:g.101848404C>T	(Likely) benign	1 lab	d7eb5fd97b
7:1786183 ELFN1 G>A	7	1786183	1786183	G	A	ELFN1	c.1951G>A	NM_001128636.4	NP_001122108.1:p.(Ala651Thr)	NC_000007.13:g.1786183G>A	VUS	1 lab	d7eb6fd7c9
6:170871102 TBP AG>A	6	170871102	170871103	AG	A	TBP	c.279del	NM_003194.5	NP_003185.1:p.(Gln93HisfsTer51)	NC_000006.11:g.170871103del	VUS	1 lab	d7ebaffbd6
1:201054087 CACNA1S A>G	1	201054087	201054087	A	G	CACNA1S	c.1223T>C	NM_000069.3	NP_000060.2:p.(Ile408Thr)	NC_000001.10:g.201054087A>G	(Likely) benign	1 lab	d7ed0e9b93
17:73497175 CASKIN2 C>T	17	73497175	73497175	C	T	CASKIN2	c.3595G>A	NM_020753.5	NP_065804.2:p.(Ala1199Thr)	NC_000017.10:g.73497175C>T	VUS	1 lab	d7ed679c21
19:1460240 APC2 G>A	19	1460240	1460240	G	A	APC2	c.1364G>A	NM_005883.3	NP_005874.1:p.(Arg455Gln)	NC_000019.9:g.1460240G>A	(Likely) benign	1 lab	d7ef95a22c
X:47837005 ZNF182 C>T	X	47837005	47837005	C	T	ZNF182	c.424G>A	NM_001007088.2	NP_001007089.1:p.(Glu142Lys)	NC_000023.10:g.47837005C>T	VUS	1 lab	d7eff4900a
6:39865007 DAAM2 T>C	6	39865007	39865007	T	C	DAAM2	c.2567T>C	NM_001201427.2	NP_001188356.1:p.(Ile856Thr)	NC_000006.11:g.39865007T>C	(Likely) benign	1 lab	d7f09237f1
7:6043428 PMS2 AAG>A	7	6043428	6043434	AAG	A	PMS2	c.251-7_251-6del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043433_6043434del	VUS	1 lab	d7f1c2a0bd
22:29115384 CHEK2 T>C	22	29115384	29115384	T	C	CHEK2	c.682A>G	NM_007194.4	NP_009125.1:p.(Ser228Gly)	NC_000022.10:g.29115384T>C	VUS	1 lab	d7f28a7bc2
20:3684023 SIGLEC1 T>C	20	3684023	3684023	T	C	SIGLEC1	c.1049A>G	NM_023068.4	NP_075556.1:p.(Asn350Ser)	NC_000020.10:g.3684023T>C	(Likely) benign	1 lab	d7f2d21069
6:12296254 EDN1 A>G	6	12296254	12296254	A	G	EDN1	c.593A>G	NM_001955.5	NP_001946.3:p.(Lys198Arg)	NC_000006.11:g.12296254A>G	VUS	1 lab	d7f3e76562
22:50687601 HDAC10 G>A	22	50687601	50687601	G	A	HDAC10	c.691-4C>T	NM_032019.6	NP_114408.3:p.?	NC_000022.10:g.50687601G>A	(Likely) benign	1 lab	d7f46b9d91
17:48264398 COL1A1 C>G	17	48264398	48264398	C	G	COL1A1	c.3509G>C	NM_000088.4	NP_000079.2:p.(Arg1170Pro)	NC_000017.10:g.48264398C>G	VUS	1 lab	d7f49728ec
8:145738829 RECQL4 C>T	8	145738829	145738829	C	T	RECQL4	c.2236G>A	NM_004260.4	NP_004251.4:p.(Ala746Thr)	NC_000008.10:g.145738829C>T	VUS	1 lab	d7f806d742
5:171766479 SH3PXD2B GCCGCTC>G	5	171766479	171766498	GCCGCTC	G	SH3PXD2B	c.1624_1629del	NM_001017995.3	NP_001017995.1:p.(Glu542_Arg543del)	NC_000005.9:g.171766493_171766498del	(Likely) benign	1 lab	d7f861a84d
10:37431185 ANKRD30A AC>A	10	37431185	37431186	AC	A	ANKRD30A	c.1361del	NM_052997.3	NP_443723.3:p.(Thr454LysfsTer53)	NC_000010.10:g.37431186del	VUS	1 lab	d7f90c696b
2:149267689 MBD5 C>A	2	149267689	149267689	C	A	MBD5	c.5097C>A	NM_001378120.1	NP_001365049.1:p.(Asp1699Glu)	NC_000002.11:g.149267689C>A	VUS	1 lab	d7fa47a549
1:156104764 LMNA A>C	1	156104764	156104764	A	C	LMNA	c.808A>C	NM_170707.4	NP_733821.1:p.(Lys270Gln)	NC_000001.10:g.156104764A>C	VUS	1 lab	d7fb300ef6
9:21334795 KLHL9 C>T	9	21334795	21334795	C	T	KLHL9	c.64G>A	NM_018847.4	NP_061335.1:p.(Gly22Arg)	NC_000009.11:g.21334795C>T	VUS	1 lab	d8bba4451f
3:69845645 MITF CTTTT>C	3	69845645	69845668	CTTTT	C	MITF	c.104+56813_104+56816del	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.69845665_69845668del	(Likely) benign	1 lab	d7fc21322d
2:242066292 PASK C>T	2	242066292	242066292	C	T	PASK	c.2038G>A	NM_015148.4	NP_055963.2:p.(Ala680Thr)	NC_000002.11:g.242066292C>T	VUS	1 lab	d7fc87b18e
8:145540507 DGAT1 G>A	8	145540507	145540507	G	A	DGAT1	c.1311+9C>T	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145540507G>A	(Likely) benign	1 lab	d7fdb5b079
5:149497111 PDGFRB A>ACGCG	5	149497111	149497113	A	ACGCG	PDGFRB	c.3137+69_3137+70insCGCG	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149497112_149497113insGCGC	(Likely) benign	1 lab	d7ff6c0442
12:117318776 HRK C>T	12	117318776	117318776	C	T	HRK	c.*56+5G>A	NM_003806.4	NP_003797.1:p.?	NC_000012.11:g.117318776C>T	VUS	1 lab	d7ffc02b7c
2:215674183 BARD1 A>T	2	215674183	215674183	A	T	BARD1	c.111T>A	NM_000465.4	NP_000456.2:p.(Ser37Arg)	NC_000002.11:g.215674183A>T	VUS	1 lab	d80106790a
2:27535883 MPV17 A>G	2	27535883	27535883	A	G	MPV17	c.164T>C	NM_002437.5	NP_002428.1:p.(Val55Ala)	NC_000002.11:g.27535883A>G	(Likely) benign	1 lab	d801085400
5:138718921 SLC23A1 C>T	5	138718921	138718921	C	T	SLC23A1	c.22G>A	NM_005847.5	NP_005838.3:p.(Glu8Lys)	NC_000005.9:g.138718921C>T	VUS	1 lab	d801b14d9c
2:86693803 KDM3A A>G	2	86693803	86693803	A	G	KDM3A	c.1316A>G	NM_018433.6	NP_060903.2:p.(His439Arg)	NC_000002.11:g.86693803A>G	(Likely) benign	1 lab	d8031175d3
2:69553369 GFPT1 C>A	2	69553369	69553369	C	A	GFPT1	c.2056-4G>T	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69553369C>A	(Likely) benign	1 lab	d8037eaf33
9:20885230 FOCAD G>T	9	20885230	20885230	G	T	FOCAD	c.2625+1G>T	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20885230G>T	(Likely) pathogenic	1 lab	d806f92c29
7:6078221 EIF2AK1 G>A	7	6078221	6078221	G	A	EIF2AK1	c.1201C>T	NM_014413.4	NP_055228.2:p.(Arg401Trp)	NC_000007.13:g.6078221G>A	VUS	1 lab	d807595de3
4:8229754 SH3TC1 C>T	4	8229754	8229754	C	T	SH3TC1	c.2333C>T	NM_018986.5	NP_061859.4:p.(Pro778Leu)	NC_000004.11:g.8229754C>T	(Likely) benign	1 lab	d807c7dc4c
8:70501324 SULF1 G>A	8	70501324	70501324	G	A	SULF1	c.682G>A	NM_001128205.2	NP_001121677.1:p.(Glu228Lys)	NC_000008.10:g.70501324G>A	VUS	1 lab	d807cfb2c1
16:88793155 PIEZO1 C>T	16	88793155	88793155	C	T	PIEZO1	c.3667G>A	NM_001142864.4	NP_001136336.2:p.(Val1223Ile)	NC_000016.9:g.88793155C>T	(Likely) benign	1 lab	d8084a7d3e
5:42718753 GHR G>T	5	42718753	42718753	G	T	GHR	c.1144G>T	NM_000163.5	NP_000154.1:p.(Gly382Cys)	NC_000005.9:g.42718753G>T	VUS	1 lab	d80c6318d7
18:43467855 EPG5 T>C	18	43467855	43467855	T	C	EPG5	c.4970A>G	NM_020964.3	NP_066015.2:p.(Tyr1657Cys)	NC_000018.9:g.43467855T>C	VUS	1 lab	d80d8839f7
2:160092557 WDSUB1 G>A	2	160092557	160092557	G	A	WDSUB1	c.1418C>T	NM_001128212.3	NP_001121684.1:p.(Thr473Ile)	NC_000002.11:g.160092557G>A	VUS	1 lab	d80d89ed02
1:8398038 SLC45A1 C>G	1	8398038	8398038	C	G	SLC45A1	c.1760C>G	NM_001080397.3	NP_001073866.3:p.(Ala587Gly)	NC_000001.10:g.8398038C>G	VUS	1 lab	d80e5b65cf
X:100400127 CENPI C>T	X	100400127	100400127	C	T	CENPI	c.1640C>T	NM_001386188.2	NP_001373117.1:p.(Ala547Val)	NC_000023.10:g.100400127C>T	VUS	1 lab	d80f565b0b
11:66637822 PC G>A	11	66637822	66637822	G	A	PC	c.854C>T	NM_001040716.2	NP_001035806.1:p.(Pro285Leu)	NC_000011.9:g.66637822G>A	VUS	1 lab	d80fdb3a64
22:45960802 FBLN1 G>T	22	45960802	45960802	G	T	FBLN1	c.1698-9589G>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45960802G>T	VUS	1 lab	d80fddd5bf
8:43016631 HGSNAT T>C	8	43016631	43016631	T	C	HGSNAT	c.544T>C	NM_152419.3	NP_689632.2:p.(Phe182Leu)	NC_000008.10:g.43016631T>C	VUS	1 lab	d812f0ee21
6:29640379 ZFP57 T>C	6	29640379	29640379	T	C	ZFP57	c.1509A>G	NM_001109809.5	NP_001103279.2:p.(Gln503=)	NC_000006.11:g.29640379T>C	(Likely) benign	1 lab	d8145d09e9
16:76486622 CNTNAP4 C>T	16	76486622	76486622	C	T	CNTNAP4	c.1289C>T	NM_033401.5	NP_207837.2:p.(Ser430Leu)	NC_000016.9:g.76486622C>T	VUS	1 lab	d814ac26c5
19:36211354 KMT2B AAAG>A	19	36211354	36211368	AAAG	A	KMT2B	c.1117_1119del	NM_014727.3	NP_055542.1:p.(Glu373del)	NC_000019.9:g.36211366_36211368del	(Likely) benign	1 lab	d815f21373
10:135098975 TUBGCP2 G>A	10	135098975	135098975	G	A	TUBGCP2	c.1880C>T	NM_006659.4	NP_006650.1:p.(Ser627Leu)	NC_000010.10:g.135098975G>A	VUS	1 lab	d816a507fc
1:92754676 GLMN T>A	1	92754676	92754676	T	A	GLMN	c.427A>T	NM_053274.3	NP_444504.1:p.(Ile143Phe)	NC_000001.10:g.92754676T>A	(Likely) benign	1 lab	d8195a359a
11:6661890 DCHS1 G>A	11	6661890	6661890	G	A	DCHS1	c.955C>T	NM_003737.4	NP_003728.1:p.(Pro319Ser)	NC_000011.9:g.6661890G>A	(Likely) benign	1 lab	d8199b2aab
19:2876090 ZNF556 G>A	19	2876090	2876090	G	A	ZNF556	c.131-1G>A	NM_024967.3	NP_079243.1:p.?	NC_000019.9:g.2876090G>A	(Likely) benign	1 lab	d819c53079
17:38251942 NR1D1 C>G	17	38251942	38251942	C	G	NR1D1	c.1003G>C	NM_021724.5	NP_068370.1:p.(Gly335Arg)	NC_000017.10:g.38251942C>G	(Likely) benign	1 lab	d81a8db64d
X:153298001 MECP2 T>C	X	153298001	153298001	T	C	MECP2	c.70A>G	NM_001110792.2	NP_001104262.1:p.(Lys24Glu)	NC_000023.10:g.153298001T>C	VUS	1 lab	d81be8f148
4:191003219 MISSING C>A	4	191003219	191003219	C	A	MISSING				NC_000004.11:g.191003219C>A	VUS	1 lab	d81e44812c
17:41719348 MEOX1 C>T	17	41719348	41719348	C	T	MEOX1	c.695G>A	NM_004527.4	NP_004518.1:p.(Gly232Asp)	NC_000017.10:g.41719348C>T	VUS	1 lab	d81e9440d3
5:13931295 DNAH5 T>C	5	13931295	13931295	T	C	DNAH5	c.116A>G	NM_001369.3	NP_001360.1:p.(Tyr39Cys)	NC_000005.9:g.13931295T>C	VUS	1 lab	d81f19f4bd
19:49206817 FUT2 C>T	19	49206817	49206817	C	T	FUT2	c.604C>T	NM_000511.6	NP_000502.4:p.(Arg202Ter)	NC_000019.9:g.49206817C>T	(Likely) pathogenic	1 lab	d81fa93c0a
3:45804422 SLC6A20 G>A	3	45804422	45804422	G	A	SLC6A20	c.1446C>T	NM_020208.4	NP_064593.1:p.(Tyr482=)	NC_000003.11:g.45804422G>A	(Likely) benign	1 lab	2e45eab1f8
20:60640173 TAF4 C>T	20	60640173	60640173	C	T	TAF4	c.694G>A	NM_003185.4	NP_003176.2:p.(Ala232Thr)	NC_000020.10:g.60640173C>T	VUS	1 lab	d8215c1f05
6:32184835 NOTCH4 C>T	6	32184835	32184835	C	T	NOTCH4	c.1748G>A	NM_004557.4	NP_004548.3:p.(Gly583Glu)	NC_000006.11:g.32184835C>T	VUS	1 lab	d8216464e8
2:121726307 GLI2 C>T	2	121726307	121726307	C	T	GLI2	c.661C>T	NM_001374353.1	NP_001361282.1:p.(Pro221Ser)	NC_000002.11:g.121726307C>T	VUS	1 lab	d821ede37a
2:179912041 CCDC141 A>C	2	179912041	179912041	A	C	CCDC141	c.195T>G	NM_173648.4	NP_775919.3:p.(His65Gln)	NC_000002.11:g.179912041A>C	VUS	1 lab	d823569845
13:32912904 BRCA2 G>T	13	32912904	32912904	G	T	BRCA2	c.4412G>T	NM_000059.4	NP_000050.3:p.(Arg1471Ile)	NC_000013.10:g.32912904G>T	VUS	1 lab	d824b7ee12
15:43307907 UBR1 T>C	15	43307907	43307907	T	C	UBR1	c.3188A>G	NM_174916.3	NP_777576.1:p.(Asp1063Gly)	NC_000015.9:g.43307907T>C	(Likely) benign	1 lab	d8257824da
1:186277120 PRG4 ACTGCTCCAACTACCCCTAAGGAGC>A	1	186277120	186277189	ACTGCTCCAACTACCCCTAAGGAGC	A	PRG4	c.2315_2338del	NM_005807.6	NP_005798.3:p.(Glu772_Lys779del)	NC_000001.10:g.186277166_186277189del	VUS	1 lab	d82806c960
5:140307857 PCDHAC1 TG>T	5	140307857	140307861	TG	T	PCDHAC1	c.1384del	NM_018898.5	NP_061721.2:p.(Ala462ProfsTer3)	NC_000005.9:g.140307861del	VUS	1 lab	d8287cac60
1:77558079 PIGK G>GC	1	77558079	77558080	G	GC	PIGK	c.1167dup	NM_005482.3	NP_005473.1:p.(His390AlafsTer23)	NC_000001.10:g.77558080dup	VUS	1 lab	d82aba5341
12:22606934 C2CD5 C>A	12	22606934	22606934	C	A	C2CD5	c.2920G>T	NM_001286176.2	NP_001273105.1:p.(Val974Leu)	NC_000012.11:g.22606934C>A	VUS	1 lab	d82b3a552f
6:30692141 TUBB G>T	6	30692141	30692141	G	T	TUBB	c.1302G>T	NM_178014.4	NP_821133.1:p.(Glu434Asp)	NC_000006.11:g.30692141G>T	VUS	1 lab	d82c0cb378
2:219920035 IHH G>A	2	219920035	219920035	G	A	IHH	c.1130C>T	NM_002181.4	NP_002172.2:p.(Pro377Leu)	NC_000002.11:g.219920035G>A	(Likely) benign	1 lab	d82c5f7528
X:48931576 PRAF2 G>A	X	48931576	48931576	G	A	PRAF2	c.71C>T	NM_007213.3	NP_009144.1:p.(Ala24Val)	NC_000023.10:g.48931576G>A	(Likely) benign	1 lab	d82cba36a5
16:69191149 UTP4 A>C	16	69191149	69191149	A	C	UTP4	c.1444+6A>C	NM_032830.3	NP_116219.2:p.?	NC_000016.9:g.69191149A>C	(Likely) benign	1 lab	d82dc63d10
19:52708907 PPP2R1A T>C	19	52708907	52708907	T	C	PPP2R1A	c.170-309T>C	NM_014225.6	NP_055040.2:p.?	NC_000019.9:g.52708907T>C	(Likely) benign	1 lab	d82dd9469d
2:25468113 DNMT3A T>C	2	25468113	25468113	T	C	DNMT3A	c.1554+9A>G	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25468113T>C	(Likely) benign	1 lab	d82f97768f
7:96653787 DLX5 G>T	7	96653787	96653787	G	T	DLX5	c.149C>A	NM_005221.6	NP_005212.1:p.(Pro50His)	NC_000007.13:g.96653787G>T	VUS	1 lab	d831474338
4:119234443 PRSS12 G>A	4	119234443	119234443	G	A	PRSS12	c.1402C>T	NM_003619.4	NP_003610.2:p.(Arg468Ter)	NC_000004.11:g.119234443G>A	(Likely) pathogenic	1 lab	d831cf8ed4
1:10684425 PEX14 C>T	1	10684425	10684425	C	T	PEX14	c.516C>T	NM_004565.3	NP_004556.1:p.(Ser172=)	NC_000001.10:g.10684425C>T	(Likely) benign	1 lab	d832edf938
1:168073734 GPR161 C>T	1	168073734	168073734	C	T	GPR161	c.355G>A	NM_001375883.1	NP_001362812.1:p.(Gly119Arg)	NC_000001.10:g.168073734C>T	VUS	1 lab	d832f388a1
2:166172195 SCN2A G>A	2	166172195	166172195	G	A	SCN2A	c.1598G>A	NM_001040142.2	NP_001035232.1:p.(Arg533Lys)	NC_000002.11:g.166172195G>A	VUS	1 lab	d836b545ac
X:154754267 TMLHE G>A	X	154754267	154754267	G	A	TMLHE	c.208C>T	NM_018196.4	NP_060666.1:p.(Arg70Cys)	NC_000023.10:g.154754267G>A	(Likely) benign	1 lab	d836e36912
1:982727 AGRN G>A	1	982727	982727	G	A	AGRN	c.3409G>A	NM_198576.4	NP_940978.2:p.(Val1137Ile)	NC_000001.10:g.982727G>A	(Likely) benign	1 lab	d838a09d7c
1:210887306 KCNH1 C>A	1	210887306	210887306	C	A	KCNH1	c.2113-29826G>T	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210887306C>A	(Likely) benign	1 lab	d83902d02d
7:100421438 EPHB4 C>T	7	100421438	100421438	C	T	EPHB4	c.239G>A	NM_004444.5	NP_004435.3:p.(Arg80Gln)	NC_000007.13:g.100421438C>T	VUS	1 lab	d83a82ff8d
2:152534580 NEB T>C	2	152534580	152534580	T	C	NEB	c.3377A>G	NM_001164508.2	NP_001157980.2:p.(Tyr1126Cys)	NC_000002.11:g.152534580T>C	VUS	1 lab	d83f57b7fe
2:74274233 TET3 C>T	2	74274233	74274233	C	T	TET3	c.1189C>T	NM_001287491.2	NP_001274420.1:p.(Pro397Ser)	NC_000002.11:g.74274233C>T	VUS	1 lab	d841490a75
4:1801059 FGFR3 C>A	4	1801059	1801059	C	A	FGFR3	c.188C>A	NM_000142.5	NP_000133.1:p.(Pro63Gln)	NC_000004.11:g.1801059C>A	(Likely) benign	1 lab	d843125186
8:41791231 KAT6A G>A	8	41791231	41791231	G	A	KAT6A	c.4507C>T	NM_006766.5	NP_006757.2:p.(Pro1503Ser)	NC_000008.10:g.41791231G>A	(Likely) benign	1 lab	d8431e66e9
1:153785845 GATAD2B C>A	1	153785845	153785845	C	A	GATAD2B	c.1300G>T	NM_020699.4	NP_065750.1:p.(Glu434Ter)	NC_000001.10:g.153785845C>A	VUS	1 lab	d843f9c9d3
19:12985525 MAST1 T>G	19	12985525	12985525	T	G	MAST1	c.4554T>G	NM_014975.3	NP_055790.1:p.(Ser1518Arg)	NC_000019.9:g.12985525T>G	(Likely) benign	1 lab	d8452a6356
19:54652358 CNOT3 A>G	19	54652358	54652358	A	G	CNOT3	c.1286A>G	NM_014516.4	NP_055331.1:p.(Tyr429Cys)	NC_000019.9:g.54652358A>G	VUS	1 lab	d847bd4905
4:55138553 PDGFRA T>C	4	55138553	55138553	T	C	PDGFRA	c.1238-8T>C	NM_006206.6	NP_006197.1:p.?	NC_000004.11:g.55138553T>C	(Likely) benign	1 lab	d84b0dbe88
7:100358158 ZAN A>G	7	100358158	100358158	A	G	ZAN	c.3841A>G	NM_003386.3	NP_003377.2:p.(Ser1281Gly)	NC_000007.13:g.100358158A>G	VUS	1 lab	d84bc5b5e6
7:15470677 AGMO A>T	7	15470677	15470677	A	T	AGMO	c.466T>A	NM_001004320.2	NP_001004320.1:p.(Leu156Ile)	NC_000007.13:g.15470677A>T	VUS	1 lab	2c3cde01ef
X:153690631 PLXNA3 G>A	X	153690631	153690631	G	A	PLXNA3	c.1298G>A	NM_017514.5	NP_059984.3:p.(Arg433His)	NC_000023.10:g.153690631G>A	(Likely) benign	1 lab	d84d398513
17:15968887 NCOR1 T>C	17	15968887	15968887	T	C	NCOR1	c.4863A>G	NM_006311.4	NP_006302.2:p.(Gln1621=)	NC_000017.10:g.15968887T>C	(Likely) benign	1 lab	d84d75cd4b
1:149895850 SF3B4 C>T	1	149895850	149895850	C	T	SF3B4	c.970G>A	NM_005850.5	NP_005841.1:p.(Ala324Thr)	NC_000001.10:g.149895850C>T	(Likely) benign	1 lab	d84e01713d
20:10639260 JAG1 G>A	20	10639260	10639260	G	A	JAG1	c.550C>T	NM_000214.3	NP_000205.1:p.(Arg184Cys)	NC_000020.10:g.10639260G>A	(Likely) pathogenic	1 lab	2c3ed74b51
X:57515207 FAAH2 G>A	X	57515207	57515207	G	A	FAAH2	c.1441G>A	NM_174912.4	NP_777572.2:p.(Gly481Ser)	NC_000023.10:g.57515207G>A	(Likely) benign	1 lab	d84f931a66
12:95397402 NDUFA12 C>T	12	95397402	95397402	C	T	NDUFA12	c.55G>A	NM_018838.5	NP_061326.1:p.(Gly19Ser)	NC_000012.11:g.95397402C>T	VUS	1 lab	d84f97aad2
13:110819498 COL4A1 G>A	13	110819498	110819498	G	A	COL4A1	c.3949+7C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110819498G>A	(Likely) benign	1 lab	d85071f24a
2:47643534 MSH2 CA>C	2	47643534	47643535	CA	C	MSH2	c.1043del	NM_000251.3	NP_000242.1:p.(Gln348ArgfsTer9)	NC_000002.11:g.47643535del	(Likely) pathogenic	1 lab	d852bfd6a7
9:93636507 SYK C>T	9	93636507	93636507	C	T	SYK	c.937C>T	NM_003177.7	NP_003168.2:p.(Arg313Trp)	NC_000009.11:g.93636507C>T	VUS	1 lab	d853283e8f
7:150934715 CHPF2 C>T	7	150934715	150934715	C	T	CHPF2	c.1267C>T	NM_019015.3	NP_061888.1:p.(Arg423Cys)	NC_000007.13:g.150934715C>T	VUS	1 lab	d853fbe987
12:121437343 HNF1A C>T	12	121437343	121437343	C	T	HNF1A	c.1681C>T	NM_000545.8	NP_000536.6:p.(Gln561Ter)	NC_000012.11:g.121437343C>T	(Likely) pathogenic	1 lab	d8555e28be
16:70713221 MTSS2 G>T	16	70713221	70713221	G	T	MTSS2	c.463C>A	NM_138383.3	NP_612392.1:p.(Leu155Ile)	NC_000016.9:g.70713221G>T	(Likely) benign	1 lab	d8558c5b8d
19:1627341 TCF3 C>T	19	1627341	1627341	C	T	TCF3	c.366+17G>A	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1627341C>T	(Likely) benign	1 lab	2e48491adf
X:39923008 BCOR T>C	X	39923008	39923008	T	C	BCOR	c.3700A>G	NM_001123385.2	NP_001116857.1:p.(Arg1234Gly)	NC_000023.10:g.39923008T>C	VUS	1 lab	2c3fdfae89
2:179445142 TTN C>T	2	179445142	179445142	C	T	TTN	c.66964G>A	NM_001267550.2	NP_001254479.2:p.(Glu22322Lys)	NC_000002.11:g.179445142C>T	(Likely) benign	1 lab	d857091c69
5:14420023 TRIO G>A	5	14420023	14420023	G	A	TRIO	c.5096G>A	NM_007118.4	NP_009049.2:p.(Arg1699Gln)	NC_000005.9:g.14420023G>A	VUS	1 lab	d857beefe0
21:45379716 AGPAT3 C>T	21	45379716	45379716	C	T	AGPAT3	c.154C>T	NM_020132.5	NP_064517.1:p.(Arg52Cys)	NC_000021.8:g.45379716C>T	VUS	1 lab	d857fa5961
10:127442257 EDRF1 T>C	10	127442257	127442257	T	C	EDRF1	c.3394-6T>C	NM_001202438.2	NP_001189367.1:p.?	NC_000010.10:g.127442257T>C	(Likely) benign	1 lab	d8580cf04e
12:133254036 POLE AAC>A	12	133254036	133254043	AAC	A	POLE	c.721-9_721-8del	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133254042_133254043del	VUS	1 lab	d859b19d9a
19:45284235 CBLC A>G	19	45284235	45284235	A	G	CBLC	c.427A>G	NM_012116.4	NP_036248.3:p.(Lys143Glu)	NC_000019.9:g.45284235A>G	(Likely) benign	1 lab	d85b1f4e89
19:17317059 MYO9B C>G	19	17317059	17317059	C	G	MYO9B	c.5260C>G	NM_004145.4	NP_004136.2:p.(Pro1754Ala)	NC_000019.9:g.17317059C>G	VUS	1 lab	d85c804549
10:1065457 GTPBP4 T>A	10	1065457	1065457	T	A	GTPBP4	c.*2290T>A	NM_012341.3	NP_036473.2:p.?	NC_000010.10:g.1065457T>A	(Likely) benign	1 lab	d85d47ca72
8:146032659 ZNF517 G>C	8	146032659	146032659	G	C	ZNF517	c.358G>C	NM_213605.3	NP_998770.2:p.(Gly120Arg)	NC_000008.10:g.146032659G>C	(Likely) benign	1 lab	d85dfc3192
1:64102019 PGM1 G>A	1	64102019	64102019	G	A	PGM1	c.988G>A	NM_002633.3	NP_002624.2:p.(Gly330Ser)	NC_000001.10:g.64102019G>A	VUS	1 lab	d85e3780a0
15:28424375 HERC2 A>G	15	28424375	28424375	A	G	HERC2	c.8938-6T>C	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28424375A>G	(Likely) benign	1 lab	d85e8b7d5a
5:161322781 GABRA1 C>T	5	161322781	161322781	C	T	GABRA1	c.966C>T	NM_000806.5	NP_000797.2:p.(Ala322=)	NC_000005.9:g.161322781C>T	(Likely) benign	1 lab	2e4cbd5a67
3:172165449 GHSR G>A	3	172165449	172165449	G	A	GHSR	c.755C>T	NM_198407.2	NP_940799.1:p.(Ser252Leu)	NC_000003.11:g.172165449G>A	(Likely) benign	1 lab	d862623342
17:59560350 TBX4 C>T	17	59560350	59560350	C	T	TBX4	c.1114C>T	NM_001321120.2	NP_001308049.1:p.(Pro372Ser)	NC_000017.10:g.59560350C>T	VUS	1 lab	d862d89a06
7:129940755 CPA4 G>C	7	129940755	129940755	G	C	CPA4	c.384+1G>C	NM_016352.4	NP_057436.2:p.?	NC_000007.13:g.129940755G>C	VUS	1 lab	d863c0228c
16:2157888 PKD1 T>C	16	2157888	2157888	T	C	PKD1	c.7061A>G	NM_001009944.3	NP_001009944.3:p.(Gln2354Arg)	NC_000016.9:g.2157888T>C	VUS	1 lab	d86598423c
22:37866063 MFNG G>A	22	37866063	37866063	G	A	MFNG	c.904C>T	NM_002405.4	NP_002396.2:p.(Arg302Cys)	NC_000022.10:g.37866063G>A	(Likely) benign	1 lab	d865c15e64
16:88902130 GALNS C>T	16	88902130	88902130	C	T	GALNS	c.758+3G>A	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88902130C>T	(Likely) benign	1 lab	d865e1175f
17:72859343 FDXR CT>C	17	72859343	72859345	CT	C	FDXR	c.1199del	NM_024417.5	NP_077728.3:p.(Lys400ArgfsTer8)	NC_000017.10:g.72859345del	VUS	1 lab	d86bdd6366
15:74481515 STRA6 A>G	15	74481515	74481515	A	G	STRA6	c.1031T>C	NM_022369.4	NP_071764.3:p.(Leu344Pro)	NC_000015.9:g.74481515A>G	VUS	1 lab	d86c732c67
6:42932852 PEX6 C>T	6	42932852	42932852	C	T	PEX6	c.2627G>A	NM_000287.4	NP_000278.3:p.(Arg876Gln)	NC_000006.11:g.42932852C>T	VUS	1 lab	d86d302db2
4:153332918 FBXW7 C>A	4	153332918	153332918	C	A	FBXW7	c.38G>T	NM_001349798.2	NP_001336727.1:p.(Arg13Leu)	NC_000004.11:g.153332918C>A	VUS	1 lab	d86d402513
7:33061694 NT5C3A T>G	7	33061694	33061694	T	G	NT5C3A	c.325A>C	NM_001002010.5	NP_001002010.2:p.(Lys109Gln)	NC_000007.13:g.33061694T>G	VUS	1 lab	d86d8fab96
3:132441135 NPHP3 G>A	3	132441135	132441135	G	A	NPHP3	c.65C>T	NM_153240.5	NP_694972.3:p.(Ala22Val)	NC_000003.11:g.132441135G>A	VUS	1 lab	d86ddb3396
5:146798017 DPYSL3 GGTGGTGCCACCT>G	5	146798017	146798030	GGTGGTGCCACCT	G	DPYSL3	c.636_647del	NM_001197294.2	NP_001184223.1:p.(Gly213_Thr216del)	NC_000005.9:g.146798019_146798030del	VUS	1 lab	d86e0928e4
3:187872047 LPP T>C	3	187872047	187872047	T	C	LPP	c.-190+7T>C	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.187872047T>C	VUS	1 lab	d86f64c9ce
5:140222137 PCDHA1 A>ACCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTTGGGTTAGAT	5	140222137	140222138	A	ACCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTTGGGTTAGAT	PCDHA1	c.2394+53868_2394+53869insCCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTTGGGTTAGAT	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140222137_140222138insCCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTTGGGTTAGAT	(Likely) benign	1 lab	d8708cf08c
15:89849345 FANCI C>G	15	89849345	89849345	C	G	FANCI	c.3457C>G	NM_001113378.2	NP_001106849.1:p.(Leu1153Val)	NC_000015.9:g.89849345C>G	VUS	1 lab	d8716e2a7f
12:80690600 OTOGL A>G	12	80690600	80690600	A	G	OTOGL	c.2929-7A>G	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80690600A>G	(Likely) benign	1 lab	d87170d6f6
9:133942437 LAMC3 G>A	9	133942437	133942437	G	A	LAMC3	c.2438G>A	NM_006059.4	NP_006050.3:p.(Ser813Asn)	NC_000009.11:g.133942437G>A	(Likely) benign	1 lab	d8718fb13f
2:27665973 KRTCAP3 C>A	2	27665973	27665973	C	A	KRTCAP3	c.306C>A	NM_173853.4	NP_776252.2:p.(Asn102Lys)	NC_000002.11:g.27665973C>A	VUS	1 lab	d8719b1341
13:20797194 GJB6 GA>G	13	20797194	20797199	GA	G	GJB6	c.425del	NM_001110219.3	NP_001103689.1:p.(Phe142SerfsTer26)	NC_000013.10:g.20797199del	VUS	1 lab	d871c5f140
9:117506 FOXD4 G>A	9	117506	117506	G	A	FOXD4	c.614C>T	NM_207305.5	NP_997188.2:p.(Pro205Leu)	NC_000009.11:g.117506G>A	(Likely) benign	1 lab	d871cf6cf4
17:40364191 STAT5B G>A	17	40364191	40364191	G	A	STAT5B	c.1491C>T	NM_012448.4	NP_036580.2:p.(Ala497=)	NC_000017.10:g.40364191G>A	(Likely) benign	1 lab	d871f4629d
11:17409233 KCNJ11 G>GC	11	17409233	17409239	G	GC	KCNJ11	c.405dup	NM_000525.4	NP_000516.3:p.(Arg136AlafsTer5)	NC_000011.9:g.17409239dup	VUS	1 lab	d873ef2657
12:48272743 VDR G>A	12	48272743	48272743	G	A	VDR	c.146+8C>T	NM_000376.3	NP_000367.1:p.?	NC_000012.11:g.48272743G>A	(Likely) benign	1 lab	d8741cea55
14:67576951 GPHN C>G	14	67576951	67576951	C	G	GPHN	c.1388C>G	NM_020806.5	NP_065857.1:p.(Thr463Ser)	NC_000014.8:g.67576951C>G	VUS	1 lab	d877032b2f
2:152381137 NEB T>A	2	152381137	152381137	T	A	NEB	c.22273-7A>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152381137T>A	(Likely) benign	1 lab	d8792b9f14
15:75703452 SIN3A A>G	15	75703452	75703452	A	G	SIN3A	c.1008+381T>C	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75703452A>G	(Likely) benign	1 lab	d87a16da6d
15:75982595 CSPG4 C>T	15	75982595	75982595	C	T	CSPG4	c.811G>A	NM_001897.5	NP_001888.2:p.(Val271Ile)	NC_000015.9:g.75982595C>T	VUS	1 lab	d87bf2aeba
1:110169524 AMPD2 T>G	1	110169524	110169524	T	G	AMPD2	c.708T>G	NM_001368809.2	NP_001355738.1:p.(Pro236=)	NC_000001.10:g.110169524T>G	VUS	1 lab	d87d8277bd
X:151869731 MAGEA3 G>A	X	151869731	151869731	G	A	MAGEA3	c.421G>A	NM_005362.4	NP_005353.1:p.(Gly141Arg)	NC_000023.10:g.151869731G>A	(Likely) benign	1 lab	d87fc6cdb6
8:144998424 PLEC G>A	8	144998424	144998424	G	A	PLEC	c.5673C>T	NM_201384.3	NP_958786.1:p.(Ile1891=)	NC_000008.10:g.144998424G>A	(Likely) benign	1 lab	d8836b88e7
4:15482898 CC2D2A C>T	4	15482898	15482898	C	T	CC2D2A	c.247+447C>T	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15482898C>T	VUS	1 lab	d884e4020d
1:116574162 SLC22A15 C>T	1	116574162	116574162	C	T	SLC22A15	c.904C>T	NM_018420.3	NP_060890.2:p.(Arg302Trp)	NC_000001.10:g.116574162C>T	VUS	1 lab	d8855705f6
7:101892192 CUX1 C>T	7	101892192	101892192	C	T	CUX1	c.4388C>T	NM_181552.4	NP_853530.2:p.(Pro1463Leu)	NC_000007.13:g.101892192C>T	(Likely) benign	1 lab	d887dd176d
17:1630950 WDR81 C>T	17	1630950	1630950	C	T	WDR81	c.2697C>T	NM_001163809.2	NP_001157281.1:p.(Arg899=)	NC_000017.10:g.1630950C>T	VUS	1 lab	d888952de4
19:18895879 COMP C>G	19	18895879	18895879	C	G	COMP	c.1741G>C	NM_000095.3	NP_000086.2:p.(Asp581His)	NC_000019.9:g.18895879C>G	VUS	1 lab	d888f2bed7
9:26920354 PLAA G>C	9	26920354	26920354	G	C	PLAA	c.1068C>G	NM_001031689.3	NP_001026859.1:p.(Ile356Met)	NC_000009.11:g.26920354G>C	VUS	1 lab	d889c9a8a0
19:7687658 XAB2 C>T	19	7687658	7687658	C	T	XAB2	c.1361G>A	NM_020196.3	NP_064581.2:p.(Arg454Gln)	NC_000019.9:g.7687658C>T	(Likely) benign	1 lab	d88ba35110
1:5937247 NPHP4 G>A	1	5937247	5937247	G	A	NPHP4	c.2723C>T	NM_015102.5	NP_055917.1:p.(Ser908Leu)	NC_000001.10:g.5937247G>A	VUS	1 lab	d88c92f9ae
2:71755462 DYSF C>T	2	71755462	71755462	C	T	DYSF	c.1311C>T	NM_001130987.2	NP_001124459.1:p.(Ile437=)	NC_000002.11:g.71755462C>T	(Likely) benign	1 lab	d88c9f8899
17:12649358 MYOCD G>T	17	12649358	12649358	G	T	MYOCD	c.1094G>T	NM_001146312.3	NP_001139784.1:p.(Gly365Val)	NC_000017.10:g.12649358G>T	VUS	1 lab	d88ccfb2d7
6:158349683 SNX9 G>A	6	158349683	158349683	G	A	SNX9	c.1237G>A	NM_016224.5	NP_057308.1:p.(Val413Met)	NC_000006.11:g.158349683G>A	VUS	1 lab	d88d604f4b
7:73470720 ELN G>A	7	73470720	73470720	G	A	ELN	c.1270G>A	NM_000501.4	NP_000492.2:p.(Gly424Arg)	NC_000007.13:g.73470720G>A	(Likely) benign	1 lab	d890ed4d6e
X:54359857 WNK3 C>T	X	54359857	54359857	C	T	WNK3	c.250G>A	NM_020922.5	NP_065973.2:p.(Ala84Thr)	NC_000023.10:g.54359857C>T	VUS	1 lab	d890f4d34e
9:130580651 ENG T>A	9	130580651	130580651	T	A	ENG	c.1434A>T	NM_000118.3	NP_000109.1:p.(Arg478Ser)	NC_000009.11:g.130580651T>A	(Likely) benign	1 lab	2e4cfd421b
18:12329599 AFG3L2 T>C	18	12329599	12329599	T	C	AFG3L2	c.2359A>G	NM_006796.2	NP_006787.2:p.(Lys787Glu)	NC_000018.9:g.12329599T>C	(Likely) benign	1 lab	2e554fdf81
1:150999792 PRUNE1 A>G	1	150999792	150999792	A	G	PRUNE1	c.763A>G	NM_021222.3	NP_067045.1:p.(Met255Val)	NC_000001.10:g.150999792A>G	(Likely) benign	1 lab	d89438a646
2:47643505 MSH2 G>A	2	47643505	47643505	G	A	MSH2	c.1013G>A	NM_000251.3	NP_000242.1:p.(Gly338Glu)	NC_000002.11:g.47643505G>A	(Likely) pathogenic	1 lab	d894e193a2
6:41617479 MDFI C>T	6	41617479	41617479	C	T	MDFI	c.382C>T	NM_005586.4	NP_005577.1:p.(Arg128Trp)	NC_000006.11:g.41617479C>T	VUS	1 lab	d896f8094e
12:56482600 ERBB3 A>G	12	56482600	56482600	A	G	ERBB3	c.1057A>G	NM_001982.4	NP_001973.2:p.(Asn353Asp)	NC_000012.11:g.56482600A>G	VUS	1 lab	d89796cdbc
19:45735079 EXOC3L2 G>C	19	45735079	45735079	G	C	EXOC3L2	c.1211C>G	NM_001382422.1	NP_001369351.1:p.(Pro404Arg)	NC_000019.9:g.45735079G>C	VUS	1 lab	d897b8d7f6
21:45855100 TRPM2 G>A	21	45855100	45855100	G	A	TRPM2	c.4061G>A	NM_003307.4	NP_003298.2:p.(Arg1354Gln)	NC_000021.8:g.45855100G>A	VUS	1 lab	d89875207d
9:37783953 EXOSC3 CAAGT>C	9	37783953	37783960	CAAGT	C	EXOSC3	c.428_431del	NM_016042.4	NP_057126.2:p.(Tyr143CysfsTer59)	NC_000009.11:g.37783957_37783960del	(Likely) pathogenic	1 lab	d898fc7ff3
18:2920361 LPIN2 C>T	18	2920361	2920361	C	T	LPIN2	c.2621G>A	NM_001375808.2	NP_001362737.1:p.(Cys874Tyr)	NC_000018.9:g.2920361C>T	VUS	1 lab	d899ddb469
7:34085921 BMPER G>A	7	34085921	34085921	G	A	BMPER	c.580G>A	NM_001365308.1	NP_001352237.1:p.(Gly194Ser)	NC_000007.13:g.34085921G>A	(Likely) benign	1 lab	d89e6e8b78
2:179469868 TTN A>C	2	179469868	179469868	A	C	TTN	c.54036T>G	NM_001267550.2	NP_001254479.2:p.(Asp18012Glu)	NC_000002.11:g.179469868A>C	VUS	1 lab	d89efe0887
14:21854206 CHD8 T>G	14	21854206	21854206	T	G	CHD8	c.7312A>C	NM_001170629.2	NP_001164100.1:p.(Thr2438Pro)	NC_000014.8:g.21854206T>G	(Likely) benign	1 lab	d89f2deefb
14:21793439 RPGRIP1 G>A	14	21793439	21793439	G	A	RPGRIP1	c.2264G>A	NM_020366.4	NP_065099.3:p.(Arg755His)	NC_000014.8:g.21793439G>A	(Likely) benign	1 lab	d8a1298799
X:106186164 MORC4 G>A	X	106186164	106186164	G	A	MORC4	c.1957C>T	NM_024657.5	NP_078933.3:p.(Arg653Cys)	NC_000023.10:g.106186164G>A	VUS	1 lab	d8a1bd96e7
15:57555304 TCF12 T>C	15	57555304	57555304	T	C	TCF12	c.1583-6T>C	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57555304T>C	(Likely) benign	1 lab	d8a1f26252
7:92734429 SAMD9 A>G	7	92734429	92734429	A	G	SAMD9	c.982T>C	NM_017654.4	NP_060124.2:p.(Tyr328His)	NC_000007.13:g.92734429A>G	(Likely) benign	1 lab	d8a317da81
13:39266729 FREM2 A>T	13	39266729	39266729	A	T	FREM2	c.5173+75A>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39266729A>T	(Likely) benign	1 lab	2e562a9f54
15:89858550 FANCI G>A	15	89858550	89858550	G	A	FANCI	c.3854G>A	NM_001113378.2	NP_001106849.1:p.(Arg1285Gln)	NC_000015.9:g.89858550G>A	(Likely) pathogenic	1 lab	d8aa463f90
11:76922237 MYO7A G>A	11	76922237	76922237	G	A	MYO7A	c.6092G>A	NM_000260.4	NP_000251.3:p.(Arg2031Gln)	NC_000011.9:g.76922237G>A	VUS	1 lab	d8ac57976c
2:179587475 TTN T>G	2	179587475	179587475	T	G	TTN	c.22151A>C	NM_001267550.2	NP_001254479.2:p.(Lys7384Thr)	NC_000002.11:g.179587475T>G	VUS	1 lab	d8ac7ac972
1:44468000 SLC6A9 T>C	1	44468000	44468000	T	C	SLC6A9	c.947A>G	NM_001024845.3	NP_001020016.1:p.(His316Arg)	NC_000001.10:g.44468000T>C	(Likely) benign	1 lab	d8ae3145a1
17:28548837 SLC6A4 T>TG	17	28548837	28548838	T	TG	SLC6A4	c.139_140insC	NM_001045.6	NP_001036.1:p.(Tyr47SerfsTer12)	NC_000017.10:g.28548837_28548838insG	VUS	1 lab	d8aeac745d
X:53222017 KDM5C G>T	X	53222017	53222017	G	T	KDM5C	c.*132C>A	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53222017G>T	(Likely) benign	1 lab	d8af5213ed
X:39923723 BCOR T>C	X	39923723	39923723	T	C	BCOR	c.3368A>G	NM_001123385.2	NP_001116857.1:p.(Asp1123Gly)	NC_000023.10:g.39923723T>C	(Likely) benign	1 lab	d8af8ad01f
4:103595223 MANBA T>C	4	103595223	103595223	T	C	MANBA	c.965A>G	NM_005908.4	NP_005899.3:p.(Tyr322Cys)	NC_000004.11:g.103595223T>C	VUS	1 lab	d8b0b047a1
18:55833392 NEDD4L T>C	18	55833392	55833392	T	C	NEDD4L	c.122+299T>C	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.55833392T>C	(Likely) benign	1 lab	d8b0cb8c2e
11:17432127 ABCC8 C>T	11	17432127	17432127	C	T	ABCC8	c.2630G>A	NM_000352.6	NP_000343.2:p.(Arg877Gln)	NC_000011.9:g.17432127C>T	VUS	1 lab	d8b238af22
5:37226440 CPLANE1 G>C	5	37226440	37226440	G	C	CPLANE1	c.2257C>G	NM_001384732.1	NP_001371661.1:p.(Gln753Glu)	NC_000005.9:g.37226440G>C	VUS	1 lab	d8b652722b
9:35792896 NPR2 C>G	9	35792896	35792896	C	G	NPR2	c.491C>G	NM_003995.4	NP_003986.2:p.(Ala164Gly)	NC_000009.11:g.35792896C>G	VUS	1 lab	d8b738eb55
19:50312016 FUZ C>G	19	50312016	50312016	C	G	FUZ	c.851G>C	NM_025129.5	NP_079405.2:p.(Arg284Pro)	NC_000019.9:g.50312016C>G	(Likely) benign	1 lab	d8b7d47539
12:110656012 IFT81 AGGACC>A	12	110656012	110656019	AGGACC	A	IFT81	c.2015_2019del	NM_014055.4	NP_054774.2:p.(Asp672AlafsTer15)	NC_000012.11:g.110656015_110656019del	VUS	1 lab	d8b8c56916
19:31039257 ZNF536 G>A	19	31039257	31039257	G	A	ZNF536	c.2731G>A	NM_014717.3	NP_055532.1:p.(Gly911Ser)	NC_000019.9:g.31039257G>A	(Likely) benign	1 lab	d8b9529c01
X:129185988 BCORL1 G>A	X	129185988	129185988	G	A	BCORL1	c.5072G>A	NM_001379451.1	NP_001366380.1:p.(Arg1691His)	NC_000023.10:g.129185988G>A	VUS	1 lab	d8bacc1459
8:61777986 CHD7 G>A	8	61777986	61777986	G	A	CHD7				NC_000008.10:g.61777986G>A	(Likely) benign	1 lab	2e58d3eb5a
15:91448823 MAN2A2 G>A	15	91448823	91448823	G	A	MAN2A2	c.405G>A	NM_006122.4	NP_006113.2:p.(Ser135=)	NC_000015.9:g.91448823G>A	(Likely) benign	1 lab	d8bc2c16f7
6:1612265 FOXC1 T>C	6	1612265	1612265	T	C	FOXC1	c.1585T>C	NM_001453.3	NP_001444.2:p.(Cys529Arg)	NC_000006.11:g.1612265T>C	(Likely) benign	1 lab	d8be48e69f
X:153580279 FLNA C>T	X	153580279	153580279	C	T	FLNA	c.6880G>A	NM_001110556.2	NP_001104026.1:p.(Gly2294Ser)	NC_000023.10:g.153580279C>T	VUS	1 lab	d8be8e2180
17:7680846 DNAH2 C>T	17	7680846	7680846	C	T	DNAH2	c.5141C>T	NM_020877.5	NP_065928.2:p.(Thr1714Met)	NC_000017.10:g.7680846C>T	VUS	1 lab	d8bf1e54c2
8:38959433 ADAM9 C>T	8	38959433	38959433	C	T	ADAM9	c.2350C>T	NM_003816.3	NP_003807.1:p.(Gln784Ter)	NC_000008.10:g.38959433C>T	VUS	1 lab	d8bf4c0a88
3:58154304 FLNB G>A	3	58154304	58154304	G	A	FLNB	c.7336G>A	NM_001457.4	NP_001448.2:p.(Ala2446Thr)	NC_000003.11:g.58154304G>A	VUS	1 lab	d8c017118d
2:228168613 COL4A3 C>T	2	228168613	228168613	C	T	COL4A3	c.3994C>T	NM_000091.5	NP_000082.2:p.(Pro1332Ser)	NC_000002.11:g.228168613C>T	VUS	1 lab	d8c0e5a3be
20:47991181 KCNB1 G>A	20	47991181	47991181	G	A	KCNB1	c.916C>T	NM_004975.4	NP_004966.1:p.(Arg306Cys)	NC_000020.10:g.47991181G>A	(Likely) pathogenic	1 lab	2e5a6e79df
11:17414637 ABCC8 G>A	11	17414637	17414637	G	A	ABCC8	c.4647C>T	NM_000352.6	NP_000343.2:p.(Ile1549=)	NC_000011.9:g.17414637G>A	(Likely) benign	1 lab	d8c75a2a76
2:238820363 RAMP1 G>A	2	238820363	238820363	G	A	RAMP1	c.385G>A	NM_005855.4	NP_005846.1:p.(Val129Met)	NC_000002.11:g.238820363G>A	VUS	1 lab	d8c818a7e1
X:36368205 CFAP47 A>G	X	36368205	36368205	A	G	CFAP47	c.8656A>G	NM_001304548.2	NP_001291477.1:p.(Ile2886Val)	NC_000023.10:g.36368205A>G	(Likely) benign	1 lab	d8c9b2759f
14:51224849 NIN G>A	14	51224849	51224849	G	A	NIN	c.2899C>T	NM_020921.4	NP_065972.4:p.(Gln967Ter)	NC_000014.8:g.51224849G>A	VUS	1 lab	d8ca4a9fa8
4:1803132 FGFR3 A>C	4	1803132	1803132	A	C	FGFR3	c.484A>C	NM_000142.5	NP_000133.1:p.(Lys162Gln)	NC_000004.11:g.1803132A>C	VUS	1 lab	d8cb3b2827
17:902099 TIMM22 C>T	17	902099	902099	C	T	TIMM22	c.319C>T	NM_013337.4	NP_037469.2:p.(Arg107Cys)	NC_000017.10:g.902099C>T	VUS	1 lab	d8cc5a489b
15:33446127 FMN1 A>T	15	33446127	33446127	A	T	FMN1	c.989T>A	NM_001277313.2	NP_001264242.1:p.(Val330Glu)	NC_000015.9:g.33446127A>T	(Likely) benign	1 lab	d8cc8e5dfc
7:94056945 COL1A2 C>T	7	94056945	94056945	C	T	COL1A2	c.3274C>T	NM_000089.4	NP_000080.2:p.(Pro1092Ser)	NC_000007.13:g.94056945C>T	VUS	1 lab	d8cfc9e399
6:44272395 AARS2 C>T	6	44272395	44272395	C	T	AARS2	c.1739G>A	NM_020745.4	NP_065796.2:p.(Arg580Gln)	NC_000006.11:g.44272395C>T	VUS	1 lab	d8d0ae397a
21:44486423 CBS A>C	21	44486423	44486423	A	C	CBS	c.381T>G	NM_000071.3	NP_000062.1:p.(Ile127Met)	NC_000021.8:g.44486423A>C	VUS	1 lab	d8d1ea8178
12:124228405 ATP6V0A2 G>A	12	124228405	124228405	G	A	ATP6V0A2	c.1112G>A	NM_012463.4	NP_036595.2:p.(Arg371His)	NC_000012.11:g.124228405G>A	VUS	1 lab	d8d26c07f2
9:26907955 PLAA T>A	9	26907955	26907955	T	A	PLAA	c.1699A>T	NM_001031689.3	NP_001026859.1:p.(Lys567Ter)	NC_000009.11:g.26907955T>A	(Likely) pathogenic	1 lab	d8d2745683
1:9776050 PIK3CD G>C	1	9776050	9776050	G	C	PIK3CD	c.514G>C	NM_005026.5	NP_005017.3:p.(Glu172Gln)	NC_000001.10:g.9776050G>C	VUS	1 lab	2c435a503b
13:25487237 CPAP C>A	13	25487237	25487237	C	A	CPAP	c.-66-8G>T	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25487237C>A	(Likely) benign	1 lab	d8d4d6701b
10:127462801 MMP21 G>C	10	127462801	127462801	G	C	MMP21	c.296C>G	NM_147191.1	NP_671724.1:p.(Pro99Arg)	NC_000010.10:g.127462801G>C	VUS	1 lab	d8d4fddee7
10:89473946 PAPSS2 G>A	10	89473946	89473946	G	A	PAPSS2	c.520+7G>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473946G>A	(Likely) benign	1 lab	d8d62ee7da
9:130996395 DNM1 C>T	9	130996395	130996395	C	T	DNM1	c.1422+9C>T	NM_004408.4	NP_004399.2:p.?	NC_000009.11:g.130996395C>T	VUS	1 lab	d8d7eaae1c
13:33232441 PDS5B T>C	13	33232441	33232441	T	C	PDS5B	c.378T>C	NM_015032.4	NP_055847.1:p.(Asn126=)	NC_000013.10:g.33232441T>C	VUS	1 lab	d8d9d51aaf
15:73023644 BBS4 A>C	15	73023644	73023644	A	C	BBS4	c.712-2A>C	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73023644A>C	VUS	1 lab	d8da611dbe
11:69949211 ANO1 C>G	11	69949211	69949211	C	G	ANO1	c.481C>G	NM_018043.7	NP_060513.5:p.(Pro161Ala)	NC_000011.9:g.69949211C>G	VUS	1 lab	d8db6e6251
13:23910852 SACS G>A	13	23910852	23910852	G	A	SACS	c.7163C>T	NM_014363.6	NP_055178.3:p.(Thr2388Ile)	NC_000013.10:g.23910852G>A	(Likely) benign	1 lab	d8dbc5cc87
14:24656660 IPO4 G>A	14	24656660	24656660	G	A	IPO4	c.534C>T	NM_024658.4	NP_078934.3:p.(Phe178=)	NC_000014.8:g.24656660G>A	VUS	1 lab	d8dc209356
6:51907664 PKHD1 C>T	6	51907664	51907664	C	T	PKHD1	c.3090G>A	NM_138694.4	NP_619639.3:p.(Ala1030=)	NC_000006.11:g.51907664C>T	(Likely) benign	1 lab	d8df604664
1:155006978 DCST1 C>T	1	155006978	155006978	C	T	DCST1	c.129C>T	NM_152494.4	NP_689707.2:p.(Gly43=)	NC_000001.10:g.155006978C>T	VUS	1 lab	d8df7ddbde
17:10296500 MYH8 T>C	17	10296500	10296500	T	C	MYH8	c.5194A>G	NM_002472.3	NP_002463.2:p.(Lys1732Glu)	NC_000017.10:g.10296500T>C	VUS	1 lab	d8dfd56a32
X:154020059 MPP1 T>C	X	154020059	154020059	T	C	MPP1	c.310A>G	NM_002436.4	NP_002427.1:p.(Met104Val)	NC_000023.10:g.154020059T>C	VUS	1 lab	d8e1a5c4ae
19:50104816 PRR12 C>T	19	50104816	50104816	C	T	PRR12	c.4414C>T	NM_020719.3	NP_065770.1:p.(Pro1472Ser)	NC_000019.9:g.50104816C>T	VUS	1 lab	d8e2163ce6
16:30745207 SRCAP C>A	16	30745207	30745207	C	A	SRCAP	c.6495-8C>A	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30745207C>A	(Likely) benign	1 lab	d8e3492f31
X:152991077 ABCD1 C>T	X	152991077	152991077	C	T	ABCD1	c.356C>T	NM_000033.4	NP_000024.2:p.(Ala119Val)	NC_000023.10:g.152991077C>T	(Likely) benign	1 lab	d8e36d287a
13:77799582 MYCBP2 A>C	13	77799582	77799582	A	C	MYCBP2	c.2845T>G	NM_015057.5	NP_055872.4:p.(Phe949Val)	NC_000013.10:g.77799582A>C	VUS	1 lab	d8e37480c7
11:35333788 SLC1A2 C>T	11	35333788	35333788	C	T	SLC1A2	c.518G>A	NM_004171.4	NP_004162.2:p.(Arg173Gln)	NC_000011.9:g.35333788C>T	(Likely) benign	1 lab	d8e3fcbc19
17:36091650 HNF1B G>C	17	36091650	36091650	G	C	HNF1B	c.981C>G	NM_000458.4	NP_000449.1:p.(Asn327Lys)	NC_000017.10:g.36091650G>C	VUS	1 lab	d8e88fc377
19:55098680 LILRA2 A>C	19	55098680	55098680	A	C	LILRA2	c.1319A>C	NM_001130917.3	NP_001124389.2:p.(Gln440Pro)	NC_000019.9:g.55098680A>C	(Likely) benign	1 lab	d8e8ba481d
11:71184617 NADSYN1 C>T	11	71184617	71184617	C	T	NADSYN1	c.551C>T	NM_018161.5	NP_060631.2:p.(Pro184Leu)	NC_000011.9:g.71184617C>T	VUS	1 lab	d8e95bf68f
2:175618943 CHRNA1 C>G	2	175618943	175618943	C	G	CHRNA1	c.540+4G>C	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175618943C>G	(Likely) benign	1 lab	d8e9acbc01
12:49434525 KMT2D G>A	12	49434525	49434525	G	A	KMT2D	c.7028C>T	NM_003482.4	NP_003473.3:p.(Pro2343Leu)	NC_000012.11:g.49434525G>A	(Likely) benign	1 lab	d8eb79a7e8
5:11732304 CTNND2 C>T	5	11732304	11732304	C	T	CTNND2	c.118G>A	NM_001332.4	NP_001323.1:p.(Gly40Arg)	NC_000005.9:g.11732304C>T	VUS	1 lab	d8ed470d47
2:170092559 LRP2 A>C	2	170092559	170092559	A	C	LRP2	c.4711T>G	NM_004525.3	NP_004516.2:p.(Ser1571Ala)	NC_000002.11:g.170092559A>C	VUS	1 lab	d8ed7d6a2e
3:167414792 PDCD10 G>A	3	167414792	167414792	G	A	PDCD10	c.268+5C>T	NM_007217.4	NP_009148.2:p.?	NC_000003.11:g.167414792G>A	(Likely) benign	1 lab	d8ee6bde21
2:70524333 TIMCC G>A	2	70524333	70524333	G	A	TIMCC	c.*88C>T	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524333G>A	VUS	1 lab	d8eeafab61
20:57415746 GNAS-AS1 GC>G	20	57415746	57415749	GC	G	GNAS-AS1	n.672+1245del	NR_185847.1		NC_000020.10:g.57415749del	VUS	1 lab	d8eef24744
8:133187675 KCNQ3 A>G	8	133187675	133187675	A	G	KCNQ3	c.933+25T>C	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133187675A>G	(Likely) benign	1 lab	2e5d744c14
15:33945093 RYR3 G>A	15	33945093	33945093	G	A	RYR3	c.4308+9G>A	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.33945093G>A	(Likely) benign	1 lab	d8efb82b34
15:43452959 TMEM62 A>G	15	43452959	43452959	A	G	TMEM62	c.1263A>G	NM_024956.4	NP_079232.3:p.(Ala421=)	NC_000015.9:g.43452959A>G	(Likely) benign	1 lab	d8efc34741
15:89402429 ACAN C>G	15	89402429	89402429	C	G	ACAN	c.6613C>G	NM_001369268.1	NP_001356197.1:p.(His2205Asp)	NC_000015.9:g.89402429C>G	(Likely) benign	1 lab	d8f1193e90
X:41091690 USP9X G>T	X	41091690	41091690	G	T	USP9X	c.7578G>T	NM_001039591.3	NP_001034680.2:p.(Met2526Ile)	NC_000023.10:g.41091690G>T	VUS	1 lab	d8f149ddf2
19:15271813 NOTCH3 G>A	19	15271813	15271813	G	A	NOTCH3	c.6626C>T	NM_000435.3	NP_000426.2:p.(Pro2209Leu)	NC_000019.9:g.15271813G>A	(Likely) benign	1 lab	d8f183df25
10:105824333 COL17A1 G>A	10	105824333	105824333	G	A	COL17A1	c.629C>T	NM_000494.4	NP_000485.3:p.(Thr210Met)	NC_000010.10:g.105824333G>A	(Likely) benign	1 lab	2c495d60d9
14:75585641 NEK9 G>GA	14	75585641	75585650	G	GA	NEK9	c.525-4dup	NM_033116.6	NP_149107.4:p.?	NC_000014.8:g.75585650dup	(Likely) benign	1 lab	d8f5b5d67b
12:56522301 ESYT1 A>G	12	56522301	56522301	A	G	ESYT1	c.198A>G	NM_015292.3	NP_056107.1:p.(Ile66Met)	NC_000012.11:g.56522301A>G	VUS	1 lab	d8f7b5da5a
3:12458374 PPARG A>G	3	12458374	12458374	A	G	PPARG	c.901A>G	NM_138711.6	NP_619725.3:p.(Ile301Val)	NC_000003.11:g.12458374A>G	VUS	1 lab	d8f862dc8d
1:120458468 NOTCH2 G>A	1	120458468	120458468	G	A	NOTCH2	c.6877C>T	NM_024408.4	NP_077719.2:p.(His2293Tyr)	NC_000001.10:g.120458468G>A	VUS	1 lab	d8f95ceb6e
12:122255498 SETD1B A>G	12	122255498	122255498	A	G	SETD1B	c.3200A>G	NM_001353345.2	NP_001340274.1:p.(Lys1067Arg)	NC_000012.11:g.122255498A>G	VUS	1 lab	d8f9f2778e
16:2223813 TRAF7 C>T	16	2223813	2223813	C	T	TRAF7	c.1111C>T	NM_032271.3	NP_115647.2:p.(Arg371Trp)	NC_000016.9:g.2223813C>T	(Likely) pathogenic	1 lab	d8fcf58457
11:61070049 DDB1 C>A	11	61070049	61070049	C	A	DDB1	c.3112+5G>T	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61070049C>A	(Likely) benign	1 lab	d8ff56bf35
2:10183904 KLF11 G>A	2	10183904	10183904	G	A	KLF11	c.42+19G>A	NM_003597.5	NP_003588.1:p.?	NC_000002.11:g.10183904G>A	(Likely) benign	1 lab	d9009fb186
6:143092217 HIVEP2 G>A	6	143092217	143092217	G	A	HIVEP2	c.3659C>T	NM_006734.4	NP_006725.3:p.(Ala1220Val)	NC_000006.11:g.143092217G>A	(Likely) benign	1 lab	d903d7f279
1:24134725 HMGCL A>C	1	24134725	24134725	A	C	HMGCL	c.650T>G	NM_000191.3	NP_000182.2:p.(Met217Arg)	NC_000001.10:g.24134725A>C	VUS	1 lab	d904265773
X:47082565 CDK16 C>G	X	47082565	47082565	C	G	CDK16	c.-6-386C>G	NM_006201.5	NP_006192.1:p.?	NC_000023.10:g.47082565C>G	VUS	1 lab	d9050f467e
X:78216360 P2RY10 C>G	X	78216360	78216360	C	G	P2RY10	c.343C>G	NM_014499.4	NP_055314.1:p.(Leu115Val)	NC_000023.10:g.78216360C>G	VUS	1 lab	d905c42f0e
7:73471772 ELN G>A	7	73471772	73471772	G	A	ELN	c.1358-198G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471772G>A	(Likely) benign	1 lab	d905c5c00d
19:11152371 SMARCA4 C>G	19	11152371	11152371	C	G	SMARCA4	c.4424+135C>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11152371C>G	(Likely) benign	1 lab	d905dd9b30
20:376918 TRIB3 G>A	20	376918	376918	G	A	TRIB3	c.661G>A	NM_021158.5	NP_066981.2:p.(Ala221Thr)	NC_000020.10:g.376918G>A	VUS	1 lab	d907a96284
6:110048334 FIG4 CTATTA>C	6	110048334	110048343	CTATTA	C	FIG4	c.317_321del	NM_014845.6	NP_055660.1:p.(Tyr106CysfsTer5)	NC_000006.11:g.110048339_110048343del	(Likely) pathogenic	1 lab	d90873ddb7
2:135988108 ZRANB3 C>T	2	135988108	135988108	C	T	ZRANB3	c.1929G>A	NM_032143.4	NP_115519.2:p.(Met643Ile)	NC_000002.11:g.135988108C>T	(Likely) benign	1 lab	d909f6479a
10:123353303 FGFR2 A>G	10	123353303	123353303	A	G	FGFR2	c.29T>C	NM_000141.5	NP_000132.3:p.(Leu10Pro)	NC_000010.10:g.123353303A>G	VUS	1 lab	d90b1d6e6a
X:67293129 OPHN1 G>T	X	67293129	67293129	G	T	OPHN1	c.1699C>A	NM_002547.3	NP_002538.1:p.(Pro567Thr)	NC_000023.10:g.67293129G>T	(Likely) benign	1 lab	d90d362021
4:126372725 FAT4 G>A	4	126372725	126372725	G	A	FAT4	c.10560G>A	NM_001291303.3	NP_001278232.1:p.(Met3520Ile)	NC_000004.11:g.126372725G>A	(Likely) benign	1 lab	d90d371fd3
2:210769540 UNC80 T>C	2	210769540	210769540	T	C	UNC80	c.4633T>C	NM_001371986.1	NP_001358915.1:p.(Tyr1545His)	NC_000002.11:g.210769540T>C	VUS	1 lab	d90e795fc6
X:15849324 AP1S2 TATAAG>T	X	15849324	15849333	TATAAG	T	AP1S2	c.427-3006_427-3002del	NM_001272071.2	NP_001259000.1:p.?	NC_000023.10:g.15849329_15849333del	(Likely) benign	1 lab	d9221e1e9f
19:46914666 CCDC8 CTGGAGCTGT>C	19	46914666	46914676	CTGGAGCTGT	C	CCDC8	c.1393_1401del	NM_032040.5	NP_114429.2:p.(Thr465_Pro467del)	NC_000019.9:g.46914668_46914676del	VUS	1 lab	d910198d57
18:7080459 LAMA1 G>C	18	7080459	7080459	G	C	LAMA1	c.62-3C>G	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7080459G>C	(Likely) pathogenic	1 lab	d91170564d
8:121243738 COL14A1 G>A	8	121243738	121243738	G	A	COL14A1	c.2230G>A	NM_021110.4	NP_066933.1:p.(Gly744Ser)	NC_000008.10:g.121243738G>A	(Likely) benign	1 lab	d911f86550
X:69353857 IGBP1 A>C	X	69353857	69353857	A	C	IGBP1	c.60A>C	NM_001551.3	NP_001542.1:p.(Arg20Ser)	NC_000023.10:g.69353857A>C	VUS	1 lab	d912947765
21:47705001 MCM3AP G>A	21	47705001	47705001	G	A	MCM3AP	c.200C>T	NM_003906.5	NP_003897.2:p.(Ser67Phe)	NC_000021.8:g.47705001G>A	VUS	1 lab	d913eea180
X:153214809 HCFC1 C>T	X	153214809	153214809	C	T	HCFC1	c.6097G>A	NM_005334.3	NP_005325.2:p.(Asp2033Asn)	NC_000023.10:g.153214809C>T	VUS	1 lab	d916d99f3a
17:1960404 HIC1 GGGC>G	17	1960404	1960428	GGGC	G	HIC1	c.442_444del	NM_006497.4	NP_006488.2:p.(Gly148del)	NC_000017.10:g.1960426_1960428del	VUS	1 lab	d917c5a500
9:377221 DOCK8 TGCAGGGCTGG>T	9	377221	377233	TGCAGGGCTGG	T	DOCK8	c.2440+13_2440+22del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.377224_377233del	(Likely) benign	1 lab	2e65503a1e
4:47667261 CORIN T>TGCAGA	4	47667261	47667263	T	TGCAGA	CORIN	c.1376_1377insTCTGC	NM_006587.4	NP_006578.2:p.(Glu461HisfsTer6)	NC_000004.11:g.47667262_47667263insCAGAG	VUS	1 lab	d919a36469
X:48775851 PIM2 T>C	X	48775851	48775851	T	C	PIM2	c.133A>G	NM_006875.4	NP_006866.2:p.(Thr45Ala)	NC_000023.10:g.48775851T>C	VUS	1 lab	d91a57099f
16:1607975 IFT140 T>C	16	1607975	1607975	T	C	IFT140	c.2360A>G	NM_014714.4	NP_055529.2:p.(Asp787Gly)	NC_000016.9:g.1607975T>C	VUS	1 lab	d91f048257
2:86075309 ST3GAL5 G>GA	2	86075309	86075310	G	GA	ST3GAL5	c.336dup	NM_003896.4	NP_003887.3:p.(Gln113SerfsTer22)	NC_000002.11:g.86075310dup	VUS	1 lab	d91f7ada4b
3:9982572 CRELD1 G>A	3	9982572	9982572	G	A	CRELD1	c.499G>A	NM_001077415.3	NP_001070883.2:p.(Gly167Arg)	NC_000003.11:g.9982572G>A	VUS	1 lab	d92128d8ec
18:3129472 MYOM1 G>A	18	3129472	3129472	G	A	MYOM1	c.2552C>T	NM_003803.4	NP_003794.3:p.(Pro851Leu)	NC_000018.9:g.3129472G>A	(Likely) benign	1 lab	d92179f8d6
5:38917659 OSMR G>T	5	38917659	38917659	G	T	OSMR	c.1297G>T	NM_003999.3	NP_003990.1:p.(Ala433Ser)	NC_000005.9:g.38917659G>T	VUS	1 lab	d98f7de8bc
X:16964992 REPS2 CGG>C	X	16964992	16964994	CGG	C	REPS2	c.9_10del	NM_004726.3	NP_004717.2:p.(Ala4SerfsTer73)	NC_000023.10:g.16964993_16964994del	VUS	1 lab	d9221ed3fe
20:43048382 HNF4A G>A	20	43048382	43048382	G	A	HNF4A	c.758G>A	NM_000457.5	NP_000448.3:p.(Arg253Gln)	NC_000020.10:g.43048382G>A	(Likely) pathogenic	1 lab	d922246127
2:166611549 GALNT3 T>C	2	166611549	166611549	T	C	GALNT3	c.1417A>G	NM_004482.4	NP_004473.2:p.(Arg473Gly)	NC_000002.11:g.166611549T>C	VUS	1 lab	d9235bdf0b
X:66765158 AR TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	T	AR	c.210_239del	NM_000044.6	NP_000035.2:p.(Gln71_Gln80del)	NC_000023.10:g.66765198_66765227del	(Likely) benign	1 lab	d923a19410
11:71951177 PHOX2A CGCGCCCTTGGCGCTGG>C	11	71951177	71951193	CGCGCCCTTGGCGCTGG	C	PHOX2A	c.455_470del	NM_005169.4	NP_005160.2:p.(Ala152GlyfsTer49)	NC_000011.9:g.71951178_71951193del	VUS	1 lab	d923a9933d
1:26383829 TRIM63 G>A	1	26383829	26383829	G	A	TRIM63	c.855-11C>T	NM_032588.3	NP_115977.2:p.?	NC_000001.10:g.26383829G>A	(Likely) benign	1 lab	2e6a17c6b8
8:100732628 VPS13B A>G	8	100732628	100732628	A	G	VPS13B	c.6713A>G	NM_152564.5	NP_689777.3:p.(Asn2238Ser)	NC_000008.10:g.100732628A>G	VUS	1 lab	d925350b58
9:37784795 EXOSC3 A>C	9	37784795	37784795	A	C	EXOSC3	c.247T>G	NM_016042.4	NP_057126.2:p.(Cys83Gly)	NC_000009.11:g.37784795A>C	VUS	1 lab	d925585758
2:74213609 TET3 G>A	2	74213609	74213609	G	A	TET3	c.79G>A	NM_001287491.2	NP_001274420.1:p.(Val27Ile)	NC_000002.11:g.74213609G>A	VUS	1 lab	d9268d3322
5:16682075 MYO10 T>C	5	16682075	16682075	T	C	MYO10	c.4094A>G	NM_012334.3	NP_036466.2:p.(Asn1365Ser)	NC_000005.9:g.16682075T>C	VUS	1 lab	d929207097
8:6264195 MCPH1 G>T	8	6264195	6264195	G	T	MCPH1	c.7G>T	NM_024596.5	NP_078872.3:p.(Ala3Ser)	NC_000008.10:g.6264195G>T	(Likely) benign	1 lab	d92c90dca5
16:2143597 PKD1 A>T	16	2143597	2143597	A	T	PKD1	c.10964T>A	NM_001009944.3	NP_001009944.3:p.(Phe3655Tyr)	NC_000016.9:g.2143597A>T	(Likely) pathogenic	1 lab	d92e11d8c4
11:17409180 KCNJ11 G>A	11	17409180	17409180	G	A	KCNJ11	c.459C>T	NM_000525.4	NP_000516.3:p.(Asn153=)	NC_000011.9:g.17409180G>A	(Likely) benign	1 lab	d92f506392
X:134948078 CT45A9 C>T	X	134948078	134948078	C	T	CT45A9	c.247=	NM_001291540.2	NP_001278469.1:p.(Arg83=)	NC_000023.10:g.134948078C>T	(Likely) benign	1 lab	d93049b86e
13:32367034 RXFP2 G>A	13	32367034	32367034	G	A	RXFP2	c.1595G>A	NM_130806.5	NP_570718.1:p.(Arg532Gln)	NC_000013.10:g.32367034G>A	VUS	1 lab	d93058ea5c
20:40033499 CHD6 G>A	20	40033499	40033499	G	A	CHD6	c.7882C>T	NM_032221.5	NP_115597.3:p.(Leu2628Phe)	NC_000020.10:g.40033499G>A	VUS	1 lab	d9353d9e30
2:202496786 TMEM237 C>T	2	202496786	202496786	C	T	TMEM237	c.541G>A	NM_001044385.3	NP_001037850.1:p.(Val181Met)	NC_000002.11:g.202496786C>T	VUS	1 lab	d936500e0e
15:99456291 IGF1R A>G	15	99456291	99456291	A	G	IGF1R	c.1608A>G	NM_000875.5	NP_000866.1:p.(Thr536=)	NC_000015.9:g.99456291A>G	(Likely) benign	1 lab	d936f91360
X:57936467 ZXDA C>T	X	57936467	57936467	C	T	ZXDA	c.388G>A	NM_007156.5	NP_009087.1:p.(Ala130Thr)	NC_000023.10:g.57936467C>T	VUS	1 lab	d937db0cf6
2:179612504 TTN CTA>TT	2	179612504	179612506	CTA	TT	TTN	c.11311+5345_11311+5347delinsAA	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612504_179612506delinsTT	VUS	1 lab	d938514120
14:105452956 CLBA1 C>G	14	105452956	105452956	C	G	CLBA1	c.188C>G	NM_174891.4	NP_777551.2:p.(Thr63Ser)	NC_000014.8:g.105452956C>G	(Likely) benign	1 lab	d938a0725d
17:40468864 STAT3 A>G	17	40468864	40468864	A	G	STAT3	c.2200T>C	NM_139276.3	NP_644805.1:p.(Leu734=)	NC_000017.10:g.40468864A>G	(Likely) benign	1 lab	d938a67f15
11:17482108 ABCC8 C>T	11	17482108	17482108	C	T	ABCC8	c.938G>A	NM_000352.6	NP_000343.2:p.(Gly313Asp)	NC_000011.9:g.17482108C>T	(Likely) pathogenic	1 lab	d93d710748
6:51824782 PKHD1 G>T	6	51824782	51824782	G	T	PKHD1	c.5794C>A	NM_138694.4	NP_619639.3:p.(His1932Asn)	NC_000006.11:g.51824782G>T	VUS	1 lab	d93d9fba54
12:121432064 HNF1A C>T	12	121432064	121432064	C	T	HNF1A	c.811C>T	NM_000545.8	NP_000536.6:p.(Arg271Trp)	NC_000012.11:g.121432064C>T	(Likely) pathogenic	1 lab	d93ed0f866
1:155386234 ASH1L T>C	1	155386234	155386234	T	C	ASH1L	c.5829-520A>G	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155386234T>C	(Likely) benign	1 lab	d93fcae2d1
19:15367924 BRD4 C>G	19	15367924	15367924	C	G	BRD4	c.1402G>C	NM_001379291.1	NP_001366220.1:p.(Val468Leu)	NC_000019.9:g.15367924C>G	(Likely) benign	1 lab	d9407932d4
5:37036562 NIPBL A>C	5	37036562	37036562	A	C	NIPBL	c.5944A>C	NM_133433.4	NP_597677.2:p.(Ile1982Leu)	NC_000005.9:g.37036562A>C	(Likely) benign	1 lab	d940e6a5e1
2:238263593 COL6A3 T>A	2	238263593	238263593	T	A	COL6A3	c.6592-16A>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238263593T>A	(Likely) benign	1 lab	d941866072
18:58039579 MC4R C>G	18	58039579	58039579	C	G	MC4R	c.4G>C	NM_005912.3	NP_005903.2:p.(Val2Leu)	NC_000018.9:g.58039579C>G	(Likely) benign	1 lab	d9422f3484
6:42974176 PPP2R5D T>C	6	42974176	42974176	T	C	PPP2R5D	c.106-25T>C	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42974176T>C	(Likely) benign	1 lab	d9427e4a6f
11:824567 PNPLA2 C>T	11	824567	824567	C	T	PNPLA2	c.1220C>T	NM_020376.4	NP_065109.1:p.(Ser407Phe)	NC_000011.9:g.824567C>T	(Likely) benign	1 lab	d9439acf17
X:130408184 IGSF1 T>C	X	130408184	130408184	T	C	IGSF1	c.3752-4A>G	NM_001555.5	NP_001546.2:p.?	NC_000023.10:g.130408184T>C	VUS	1 lab	d959225d48
17:62657940 SMURF2 C>A	17	62657940	62657940	C	A	SMURF2	c.52+7G>T	NM_022739.4	NP_073576.1:p.?	NC_000017.10:g.62657940C>A	VUS	1 lab	d948386a62
9:139750554 MAMDC4 C>T	9	139750554	139750554	C	T	MAMDC4	c.1673C>T	NM_206920.3	NP_996803.2:p.(Pro558Leu)	NC_000009.11:g.139750554C>T	VUS	1 lab	d949384a2e
15:100672344 ADAMTS17 C>T	15	100672344	100672344	C	T	ADAMTS17	c.1589G>A	NM_139057.4	NP_620688.2:p.(Gly530Glu)	NC_000015.9:g.100672344C>T	VUS	1 lab	d94a6d556f
1:179966044 CEP350 C>T	1	179966044	179966044	C	T	CEP350	c.752C>T	NM_014810.5	NP_055625.4:p.(Ala251Val)	NC_000001.10:g.179966044C>T	VUS	1 lab	d94ae70c90
1:94495146 ABCA4 G>A	1	94495146	94495146	G	A	ABCA4	c.4394C>T	NM_000350.3	NP_000341.2:p.(Ser1465Phe)	NC_000001.10:g.94495146G>A	VUS	1 lab	d94b556ce8
7:31569407 ITPRID1 A>G	7	31569407	31569407	A	G	ITPRID1	c.-98+15673A>G	NM_001257967.3	NP_001244896.2:p.?	NC_000007.13:g.31569407A>G	(Likely) benign	1 lab	d94c4d36df
19:10429859 RAVER1 C>T	19	10429859	10429859	C	T	RAVER1	c.1828G>A	NM_133452.3	NP_597709.3:p.(Gly610Arg)	NC_000019.9:g.10429859C>T	(Likely) benign	1 lab	d94ead33aa
2:20132102 WDR35 G>GC	2	20132102	20132103	G	GC	WDR35	c.2764dup	NM_020779.4	NP_065830.2:p.(Ala922GlyfsTer13)	NC_000002.11:g.20132103dup	(Likely) pathogenic	1 lab	d9502b11f0
3:167183316 SERPINI2 ACC>A	3	167183316	167183318	ACC	A	SERPINI2	c.622_623del	NM_006217.6	NP_006208.1:p.(Gly208PhefsTer21)	NC_000003.11:g.167183317_167183318del	VUS	1 lab	d9523c7215
1:1168476 B3GALT6 A>G	1	1168476	1168476	A	G	B3GALT6	c.818A>G	NM_080605.4	NP_542172.2:p.(Asn273Ser)	NC_000001.10:g.1168476A>G	VUS	1 lab	d953f9faa0
22:51169249 SHANK3 T>C	22	51169249	51169249	T	C	SHANK3	c.4930T>C	NM_001372044.2	NP_001358973.1:p.(Tyr1644His)	NC_000022.10:g.51169249T>C	VUS	1 lab	d954877dc8
15:34102720 RYR3 G>T	15	34102720	34102720	G	T	RYR3	c.10067G>T	NM_001036.6	NP_001027.3:p.(Arg3356Leu)	NC_000015.9:g.34102720G>T	VUS	1 lab	d9552a936b
2:220422107 OBSL1 C>T	2	220422107	220422107	C	T	OBSL1	c.4024G>A	NM_015311.3	NP_056126.1:p.(Asp1342Asn)	NC_000002.11:g.220422107C>T	VUS	1 lab	d9557d2aea
10:80976030 ZMIZ1 C>T	10	80976030	80976030	C	T	ZMIZ1	c.279C>T	NM_020338.4	NP_065071.1:p.(Ala93=)	NC_000010.10:g.80976030C>T	(Likely) benign	1 lab	d9575cdd69
2:105473245 POU3F3 T>A	2	105473245	105473245	T	A	POU3F3	c.1277T>A	NM_006236.3	NP_006227.1:p.(Leu426His)	NC_000002.11:g.105473245T>A	VUS	1 lab	d957a0c7a3
8:38277164 FGFR1 C>T	8	38277164	38277164	C	T	FGFR1	c.1171G>A	NM_023110.3	NP_075598.2:p.(Val391Met)	NC_000008.10:g.38277164C>T	(Likely) benign	1 lab	d95a92ba7a
22:24718579 SPECC1L T>G	22	24718579	24718579	T	G	SPECC1L	c.1631T>G	NM_015330.6	NP_056145.5:p.(Met544Arg)	NC_000022.10:g.24718579T>G	VUS	1 lab	d95ac08f36
11:118363810 KMT2A G>C	11	118363810	118363810	G	C	KMT2A	c.5043G>C	NM_001197104.2	NP_001184033.1:p.(Glu1681Asp)	NC_000011.9:g.118363810G>C	(Likely) benign	1 lab	d95b3ee10d
1:154113942 NUP210L G>A	1	154113942	154113942	G	A	NUP210L	c.531C>T	NM_207308.3	NP_997191.2:p.(Asn177=)	NC_000001.10:g.154113942G>A	VUS	1 lab	d95c840976
2:32640862 BIRC6 C>T	2	32640862	32640862	C	T	BIRC6	c.2503C>T	NM_016252.4	NP_057336.3:p.(Arg835Trp)	NC_000002.11:g.32640862C>T	VUS	1 lab	d95cb7f91a
17:19265974 B9D1 G>C	17	19265974	19265974	G	C	B9D1	c.-92C>G	NM_015681.5	NP_056496.1:p.?	NC_000017.10:g.19265974G>C	VUS	1 lab	d95cf3e71d
14:102898382 TECPR2 A>G	14	102898382	102898382	A	G	TECPR2	c.1334A>G	NM_014844.5	NP_055659.2:p.(Asn445Ser)	NC_000014.8:g.102898382A>G	VUS	1 lab	2c4e9149f0
18:67864951 RTTN G>C	18	67864951	67864951	G	C	RTTN	c.602C>G	NM_173630.4	NP_775901.3:p.(Thr201Ser)	NC_000018.9:g.67864951G>C	(Likely) benign	1 lab	d95f0aaa57
9:35794101 NPR2 G>T	9	35794101	35794101	G	T	NPR2	c.873+1G>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35794101G>T	VUS	1 lab	d96149cc37
7:94157557 CASD1 A>G	7	94157557	94157557	A	G	CASD1	c.454A>G	NM_022900.5	NP_075051.4:p.(Thr152Ala)	NC_000007.13:g.94157557A>G	(Likely) benign	1 lab	d961b5712d
1:226252023 H3-3A C>T	1	226252023	226252023	C	T	H3-3A	c.-23-7C>T	NM_002107.7	NP_002098.1:p.?	NC_000001.10:g.226252023C>T	(Likely) benign	1 lab	d961dcd72f
16:3817843 CREBBP G>A	16	3817843	3817843	G	A	CREBBP	c.3128C>T	NM_004380.3	NP_004371.2:p.(Ser1043Leu)	NC_000016.9:g.3817843G>A	(Likely) benign	1 lab	d96203a968
4:1804687 FGFR3 C>T	4	1804687	1804687	C	T	FGFR3	c.931-732C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804687C>T	(Likely) benign	1 lab	d9624eef9b
7:81643767 CACNA2D1 T>C	7	81643767	81643767	T	C	CACNA2D1	c.1172A>G	NM_000722.4	NP_000713.2:p.(Gln391Arg)	NC_000007.13:g.81643767T>C	VUS	1 lab	d9627acfd3
7:151960402 KMT2C C>T	7	151960402	151960402	C	T	KMT2C	c.1185-187G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151960402C>T	(Likely) benign	1 lab	d962b5f696
18:19429291 MIB1 GT>G	18	19429291	19429293	GT	G	MIB1	c.2530del	NM_020774.4	NP_065825.1:p.(Ser844LeufsTer50)	NC_000018.9:g.19429293del	VUS	1 lab	d9651586df
X:8434131 VCX3B G>C	X	8434131	8434131	G	C	VCX3B	c.448G>C	NM_001001888.4	NP_001001888.3:p.(Val150Leu)	NC_000023.10:g.8434131G>C	VUS	1 lab	d965e5b53a
2:233408368 CHRNG C>T	2	233408368	233408368	C	T	CHRNG	c.994C>T	NM_005199.5	NP_005190.4:p.(Arg332Trp)	NC_000002.11:g.233408368C>T	(Likely) benign	1 lab	d967d918db
11:108188118 ATM C>T	11	108188118	108188118	C	T	ATM	c.6217C>T	NM_000051.4	NP_000042.3:p.(Leu2073Phe)	NC_000011.9:g.108188118C>T	VUS	1 lab	d969125c03
1:248789636 OR2T11 G>A	1	248789636	248789636	G	A	OR2T11	c.794C>T	NM_001001964.2	NP_001001964.1:p.(Pro265Leu)	NC_000001.10:g.248789636G>A	VUS	1 lab	d96a4d2f45
1:152285513 FLG G>A	1	152285513	152285513	G	A	FLG	c.1849C>T	NM_002016.2	NP_002007.1:p.(Gln617Ter)	NC_000001.10:g.152285513G>A	VUS	1 lab	d96ae8eba4
10:89473949 PAPSS2 T>C	10	89473949	89473949	T	C	PAPSS2	c.520+10T>C	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473949T>C	(Likely) benign	1 lab	d96d0bf1c3
10:89503182 PAPSS2 G>C	10	89503182	89503182	G	C	PAPSS2	c.1275G>C	NM_001015880.2	NP_001015880.1:p.(Leu425=)	NC_000010.10:g.89503182G>C	(Likely) benign	1 lab	d96d83e411
14:70478230 SMOC1 G>A	14	70478230	70478230	G	A	SMOC1	c.886G>A	NM_001034852.3	NP_001030024.1:p.(Ala296Thr)	NC_000014.8:g.70478230G>A	(Likely) benign	1 lab	d96e6dcbe1
6:74497110 CD109 C>A	6	74497110	74497110	C	A	CD109	c.2491C>A	NM_133493.5	NP_598000.2:p.(Pro831Thr)	NC_000006.11:g.74497110C>A	(Likely) benign	1 lab	d96f50023f
7:16502558 SOSTDC1 C>T	7	16502558	16502558	C	T	SOSTDC1	c.236G>A	NM_015464.3	NP_056279.1:p.(Arg79His)	NC_000007.13:g.16502558C>T	VUS	1 lab	d9735d45f9
1:158583659 SPTA1 T>C	1	158583659	158583659	T	C	SPTA1	c.6843-2A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158583659T>C	(Likely) pathogenic	1 lab	2e6c086cdb
6:24784733 GMNN A>T	6	24784733	24784733	A	T	GMNN	c.419A>T	NM_015895.5	NP_056979.1:p.(Glu140Val)	NC_000006.11:g.24784733A>T	VUS	1 lab	d974d714e4
21:44486465 CBS G>A	21	44486465	44486465	G	A	CBS	c.339C>T	NM_000071.3	NP_000062.1:p.(Asn113=)	NC_000021.8:g.44486465G>A	(Likely) benign	1 lab	d974f299f2
10:28824561 WAC G>C	10	28824561	28824561	G	C	WAC	c.149G>C	NM_016628.5	NP_057712.2:p.(Gly50Ala)	NC_000010.10:g.28824561G>C	(Likely) benign	1 lab	d9758782ad
17:74004928 EVPL G>A	17	74004928	74004928	G	A	EVPL	c.4358C>T	NM_001988.4	NP_001979.2:p.(Pro1453Leu)	NC_000017.10:g.74004928G>A	VUS	1 lab	d976960eb3
5:149771576 TCOF1 G>A	5	149771576	149771576	G	A	TCOF1	c.3354G>A	NM_001371623.1	NP_001358552.1:p.(Gln1118=)	NC_000005.9:g.149771576G>A	(Likely) benign	1 lab	d976ae7f15
7:70239026 AUTS2 A>G	7	70239026	70239026	A	G	AUTS2	c.1843A>G	NM_015570.4	NP_056385.1:p.(Ile615Val)	NC_000007.13:g.70239026A>G	VUS	1 lab	d9777f597d
2:145156536 ZEB2 T>C	2	145156536	145156536	T	C	ZEB2	c.2218A>G	NM_014795.4	NP_055610.1:p.(Thr740Ala)	NC_000002.11:g.145156536T>C	VUS	1 lab	d9779776f5
X:110366531 PAK3 G>A	X	110366531	110366531	G	A	PAK3	n.972G>A	NR_136746.2		NC_000023.10:g.110366531G>A	(Likely) benign	1 lab	2e6c2e4b08
11:16119215 SOX6 C>G	11	16119215	16119215	C	G	SOX6	c.918G>C	NM_001367873.1	NP_001354802.1:p.(Gln306His)	NC_000011.9:g.16119215C>G	(Likely) benign	1 lab	d978a64e4d
18:50278565 DCC G>A	18	50278565	50278565	G	A	DCC	c.233G>A	NM_005215.4	NP_005206.2:p.(Gly78Asp)	NC_000018.9:g.50278565G>A	VUS	1 lab	d97a34ec5f
6:73951780 KHDC1 C>T	6	73951780	73951780	C	T	KHDC1	c.293G>A	NM_030568.5	NP_085045.3:p.(Arg98Gln)	NC_000006.11:g.73951780C>T	(Likely) benign	1 lab	d97a79c465
12:7053637 C12orf57 A>G	12	7053637	7053637	A	G	C12orf57	c.-55A>G	NM_001301838.2	NP_001288767.1:p.?	NC_000012.11:g.7053637A>G	(Likely) pathogenic	1 lab	2c513dbaab
17:55193629 AKAP1 G>A	17	55193629	55193629	G	A	AKAP1	c.2432+7G>A	NM_003488.4	NP_003479.1:p.?	NC_000017.10:g.55193629G>A	VUS	1 lab	d97bc12a5b
16:67680807 CARMIL2 T>G	16	67680807	67680807	T	G	CARMIL2	c.542T>G	NM_001013838.3	NP_001013860.1:p.(Val181Gly)	NC_000016.9:g.67680807T>G	VUS	1 lab	d97cacf362
19:5131296 KDM4B G>A	19	5131296	5131296	G	A	KDM4B	c.1525G>A	NM_015015.3	NP_055830.1:p.(Val509Met)	NC_000019.9:g.5131296G>A	(Likely) benign	1 lab	d97d011817
18:59828466 PIGN G>A	18	59828466	59828466	G	A	PIGN	c.121C>T	NM_176787.5	NP_789744.1:p.(Pro41Ser)	NC_000018.9:g.59828466G>A	VUS	1 lab	d97d30fbba
2:96593024 ANKRD36C T>G	2	96593024	96593024	T	G	ANKRD36C	c.1877A>C	NM_001393982.1	NP_001380911.1:p.(Asp626Ala)	NC_000002.11:g.96593024T>G	(Likely) benign	1 lab	d97f399718
4:39271725 WDR19 G>A	4	39271725	39271725	G	A	WDR19	c.3483+5G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39271725G>A	VUS	1 lab	d97f9de591
2:37384026 EIF2AK2 C>G	2	37384026	37384026	C	G	EIF2AK2	c.-184+25G>C	NM_001135651.3	NP_001129123.1:p.?	NC_000002.11:g.37384026C>G	(Likely) benign	1 lab	d98036d5a8
9:116930880 COL27A1 C>T	9	116930880	116930880	C	T	COL27A1	c.1045C>T	NM_032888.4	NP_116277.2:p.(Arg349Cys)	NC_000009.11:g.116930880C>T	(Likely) benign	1 lab	d9809cdc24
6:42946264 PEX6 G>A	6	42946264	42946264	G	A	PEX6	c.625C>T	NM_000287.4	NP_000278.3:p.(Arg209Trp)	NC_000006.11:g.42946264G>A	VUS	1 lab	d9812c17b7
19:8650491 ADAMTS10 C>T	19	8650491	8650491	C	T	ADAMTS10	c.2714G>A	NM_030957.4	NP_112219.3:p.(Arg905His)	NC_000019.9:g.8650491C>T	VUS	1 lab	d9815e3515
17:71364692 SDK2 C>T	17	71364692	71364692	C	T	SDK2	c.5021G>A	NM_001144952.2	NP_001138424.1:p.(Arg1674Gln)	NC_000017.10:g.71364692C>T	VUS	1 lab	d9819b78b1
1:184943476 NIBAN1 C>G	1	184943476	184943476	C	G	NIBAN1	c.13G>C	NM_052966.4	NP_443198.1:p.(Ala5Pro)	NC_000001.10:g.184943476C>G	VUS	1 lab	d9827a177a
1:36826947 STK40 C>T	1	36826947	36826947	C	T	STK40	c.-8-6G>A	NM_001282547.2	NP_001269476.1:p.?	NC_000001.10:g.36826947C>T	(Likely) benign	1 lab	d984104b79
2:74605366 DCTN1 T>C	2	74605366	74605366	T	C	DCTN1	c.40A>G	NM_004082.5	NP_004073.2:p.(Ser14Gly)	NC_000002.11:g.74605366T>C	VUS	1 lab	d985edd68f
3:47158238 SETD2 CTTCT>C	3	47158238	47158246	CTTCT	C	SETD2	c.4457_4460del	NM_014159.7	NP_054878.5:p.(Lys1486ArgfsTer28)	NC_000003.11:g.47158243_47158246del	(Likely) pathogenic	1 lab	d986e7abb8
12:133235896 POLE G>A	12	133235896	133235896	G	A	POLE	c.3260C>T	NM_006231.4	NP_006222.2:p.(Ser1087Phe)	NC_000012.11:g.133235896G>A	VUS	1 lab	d9878dfeb6
9:140053080 GRIN1 C>T	9	140053080	140053080	C	T	GRIN1	c.1121C>T	NM_007327.4	NP_015566.1:p.(Pro374Leu)	NC_000009.11:g.140053080C>T	(Likely) benign	1 lab	d987c73ad4
X:79973258 BRWD3 G>A	X	79973258	79973258	G	A	BRWD3	c.2045C>T	NM_153252.5	NP_694984.5:p.(Ala682Val)	NC_000023.10:g.79973258G>A	VUS	1 lab	d987cc7a0f
14:77769162 POMT2 G>C	14	77769162	77769162	G	C	POMT2	c.656+16C>G	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77769162G>C	(Likely) benign	1 lab	d98bfac01c
4:69973954 UGT2B7 CA>C	4	69973954	69973955	CA	C	UGT2B7	c.1225del	NM_001074.4	NP_001065.2:p.(Arg409GlyfsTer18)	NC_000004.11:g.69973955del	VUS	1 lab	d98c1281c5
9:139399922 NOTCH1 C>T	9	139399922	139399922	C	T	NOTCH1	c.4426G>A	NM_017617.5	NP_060087.3:p.(Gly1476Ser)	NC_000009.11:g.139399922C>T	VUS	1 lab	d98cde84f5
12:18435407 PIK3C2G G>GA	12	18435407	18435411	G	GA	PIK3C2G	c.396dup	NM_001288772.2	NP_001275701.1:p.(His133ThrfsTer5)	NC_000012.11:g.18435411dup	VUS	1 lab	d98dfc3d5c
12:9087082 PHC1 C>T	12	9087082	9087082	C	T	PHC1	c.2253+8C>T	NM_004426.3	NP_004417.2:p.?	NC_000012.11:g.9087082C>T	VUS	1 lab	d98e88c6d1
19:42794511 CIC G>A	19	42794511	42794511	G	A	CIC	c.4318G>A	NM_001386298.1	NP_001373227.1:p.(Ala1440Thr)	NC_000019.9:g.42794511G>A	(Likely) benign	1 lab	d98fac1b49
9:116151345 ALAD C>G	9	116151345	116151345	C	G	ALAD	c.843G>C	NM_000031.6	NP_000022.3:p.(Glu281Asp)	NC_000009.11:g.116151345C>G	VUS	1 lab	d98fb8a2f1
X:48321284 SLC38A5 C>T	X	48321284	48321284	C	T	SLC38A5	c.573G>A	NM_033518.4	NP_277053.2:p.(Leu191=)	NC_000023.10:g.48321284C>T	VUS	1 lab	d99107fbcf
18:31326428 ASXL3 G>A	18	31326428	31326428	G	A	ASXL3	c.6616G>A	NM_030632.3	NP_085135.1:p.(Ala2206Thr)	NC_000018.9:g.31326428G>A	VUS	1 lab	d99159e628
21:47754471 PCNT G>A	21	47754471	47754471	G	A	PCNT	c.428G>A	NM_006031.6	NP_006022.3:p.(Arg143His)	NC_000021.8:g.47754471G>A	(Likely) benign	1 lab	d991bf0294
17:44248830 KANSL1 C>A	17	44248830	44248830	C	A	KANSL1	c.680G>T	NM_015443.4	NP_056258.1:p.(Ser227Ile)	NC_000017.10:g.44248830C>A	VUS	1 lab	d9927b2bcb
1:22838441 ZBTB40 C>T	1	22838441	22838441	C	T	ZBTB40	c.2275C>T	NM_014870.4	NP_055685.3:p.(Arg759Trp)	NC_000001.10:g.22838441C>T	VUS	1 lab	d993ae8947
14:51196416 NIN G>A	14	51196416	51196416	G	A	NIN	c.5903C>T	NM_020921.4	NP_065972.4:p.(Thr1968Met)	NC_000014.8:g.51196416G>A	(Likely) benign	1 lab	d995a4515e
X:41075668 USP9X A>G	X	41075668	41075668	A	G	USP9X	c.5848A>G	NM_001039591.3	NP_001034680.2:p.(Ile1950Val)	NC_000023.10:g.41075668A>G	VUS	1 lab	d9960f5577
15:100591801 ADAMTS17 C>G	15	100591801	100591801	C	G	ADAMTS17	c.2431G>C	NM_139057.4	NP_620688.2:p.(Gly811Arg)	NC_000015.9:g.100591801C>G	VUS	1 lab	d9971e8d30
14:65406308 GPX2 G>T	14	65406308	65406308	G	T	GPX2	c.471C>A	NM_002083.4	NP_002074.2:p.(Phe157Leu)	NC_000014.8:g.65406308G>T	VUS	1 lab	d9975d33f7
2:242683097 D2HGDH G>A	2	242683097	242683097	G	A	D2HGDH	c.551G>A	NM_152783.5	NP_689996.4:p.(Arg184Gln)	NC_000002.11:g.242683097G>A	(Likely) benign	1 lab	d99893d0fe
X:6069149 NLGN4X A>G	X	6069149	6069149	A	G	NLGN4X	c.359T>C	NM_181332.3	NP_851849.1:p.(Leu120Pro)	NC_000023.10:g.6069149A>G	VUS	1 lab	d998ba91c3
17:41243670 BRCA1 G>C	17	41243670	41243670	G	C	BRCA1	c.3878C>G	NM_007294.4	NP_009225.1:p.(Ala1293Gly)	NC_000017.10:g.41243670G>C	(Likely) benign	1 lab	d998f79b60
6:129828766 LAMA2 G>A	6	129828766	129828766	G	A	LAMA2	c.8836G>A	NM_000426.4	NP_000417.3:p.(Gly2946Arg)	NC_000006.11:g.129828766G>A	VUS	1 lab	d999272336
7:143400090 TCAF2 G>A	7	143400090	143400090	G	A	TCAF2	c.3G>A	NM_001363538.2	NP_001350467.1:p.(Met1?)	NC_000007.13:g.143400090G>A	VUS	1 lab	d999d925a2
11:78380037 TENM4 C>T	11	78380037	78380037	C	T	TENM4	c.7353G>A	NM_001098816.3	NP_001092286.2:p.(Met2451Ile)	NC_000011.9:g.78380037C>T	VUS	1 lab	d99a4f5d42
8:145738245 RECQL4 C>T	8	145738245	145738245	C	T	RECQL4	c.2740G>A	NM_004260.4	NP_004251.4:p.(Asp914Asn)	NC_000008.10:g.145738245C>T	VUS	1 lab	d99bfc04ce
14:64680931 SYNE2 A>T	14	64680931	64680931	A	T	SYNE2	c.19076A>T	NM_182914.3	NP_878918.2:p.(Glu6359Val)	NC_000014.8:g.64680931A>T	VUS	1 lab	d99c1e1b66
3:47035503 NBEAL2 C>T	3	47035503	47035503	C	T	NBEAL2	c.1190C>T	NM_015175.3	NP_055990.1:p.(Ser397Leu)	NC_000003.11:g.47035503C>T	(Likely) benign	1 lab	d99d4209bb
3:193333548 OPA1 A>G	3	193333548	193333548	A	G	OPA1	c.437A>G	NM_130837.3	NP_570850.2:p.(Tyr146Cys)	NC_000003.11:g.193333548A>G	(Likely) benign	1 lab	d99e43f3b0
13:32893394 BRCA2 A>G	13	32893394	32893394	A	G	BRCA2	c.248A>G	NM_000059.4	NP_000050.3:p.(Glu83Gly)	NC_000013.10:g.32893394A>G	VUS	1 lab	d99e979207
7:143826513 OR2A14 A>G	7	143826513	143826513	A	G	OR2A14	c.308A>G	NM_001001659.3	NP_001001659.1:p.(Tyr103Cys)	NC_000007.13:g.143826513A>G	(Likely) benign	1 lab	d99eb884ac
4:1977428 NSD2 C>G	4	1977428	1977428	C	G	NSD2	c.3621+301C>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1977428C>G	VUS	1 lab	d99ecfdc80
6:33410773 SYNGAP1 G>A	6	33410773	33410773	G	A	SYNGAP1	c.2444G>A	NM_006772.3	NP_006763.2:p.(Arg815His)	NC_000006.11:g.33410773G>A	(Likely) benign	1 lab	d9a00b53bc
11:74556124 XRRA1 G>C	11	74556124	74556124	G	C	XRRA1	c.1921C>G	NM_001378157.1	NP_001365086.1:p.(Pro641Ala)	NC_000011.9:g.74556124G>C	(Likely) benign	1 lab	d9a013af04
16:17202757 XYLT1 C>T	16	17202757	17202757	C	T	XYLT1	c.2675G>A	NM_022166.4	NP_071449.1:p.(Arg892Gln)	NC_000016.9:g.17202757C>T	(Likely) benign	1 lab	d9a1588d99
2:208988907 CRYGD C>A	2	208988907	208988907	C	A	CRYGD	c.181G>T	NM_006891.4	NP_008822.2:p.(Gly61Cys)	NC_000002.11:g.208988907C>A	(Likely) benign	1 lab	d9a43d3a67
1:215853517 USH2A G>T	1	215853517	215853517	G	T	USH2A	c.12268C>A	NM_206933.4	NP_996816.3:p.(Pro4090Thr)	NC_000001.10:g.215853517G>T	(Likely) pathogenic	1 lab	d9a4617aba
2:1946820 MYT1L C>T	2	1946820	1946820	C	T	MYT1L	c.439G>A	NM_001303052.2	NP_001289981.1:p.(Glu147Lys)	NC_000002.11:g.1946820C>T	VUS	1 lab	d9a4e5ee3c
16:625836 PIGQ C>T	16	625836	625836	C	T	PIGQ	c.690-3C>T	NM_004204.5	NP_004195.2:p.?	NC_000016.9:g.625836C>T	(Likely) benign	1 lab	d9a625aeaf
16:70834794 VAC14 C>A	16	70834794	70834794	C	A	VAC14	c.10G>T	NM_018052.5	NP_060522.3:p.(Glu4Ter)	NC_000016.9:g.70834794C>A	VUS	1 lab	d9a67259cb
22:31845490 EIF4ENIF1 G>A	22	31845490	31845490	G	A	EIF4ENIF1	c.1612C>T	NM_019843.4	NP_062817.2:p.(Pro538Ser)	NC_000022.10:g.31845490G>A	(Likely) benign	1 lab	d9a7783adf
1:62994986 DOCK7 A>G	1	62994986	62994986	A	G	DOCK7	c.3743T>C	NM_001367561.1	NP_001354490.1:p.(Ile1248Thr)	NC_000001.10:g.62994986A>G	VUS	1 lab	d9a90054e2
9:124062325 GSN T>TATTGTAA	9	124062325	124062332	T	TATTGTAA	GSN	c.-9-1915_-9-1909dup	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062326_124062332dup	VUS	1 lab	d9aaa9eee6
16:30387746 MYL11 C>A	16	30387746	30387746	C	A	MYL11	c.175C>A	NM_013292.5	NP_037424.2:p.(Arg59Ser)	NC_000016.9:g.30387746C>A	VUS	1 lab	d9ab3d2171
X:102755560 RAB40A G>A	X	102755560	102755560	G	A	RAB40A	c.125C>T	NM_080879.3	NP_543155.2:p.(Pro42Leu)	NC_000023.10:g.102755560G>A	(Likely) benign	1 lab	d9ac6ab9c3
7:116862975 ST7 C>T	7	116862975	116862975	C	T	ST7	c.1638+859C>T	NM_001369598.1	NP_001356527.1:p.?	NC_000007.13:g.116862975C>T	(Likely) benign	1 lab	d9acd3e129
4:77662514 SHROOM3 G>C	4	77662514	77662514	G	C	SHROOM3	c.3188G>C	NM_020859.4	NP_065910.3:p.(Arg1063Pro)	NC_000004.11:g.77662514G>C	(Likely) benign	1 lab	d9aed72d80
8:61732591 CHD7 A>T	8	61732591	61732591	A	T	CHD7	c.2639A>T	NM_017780.4	NP_060250.2:p.(Asp880Val)	NC_000008.10:g.61732591A>T	(Likely) benign	1 lab	d9af05d540
X:57936433 ZXDA T>C	X	57936433	57936433	T	C	ZXDA	c.422A>G	NM_007156.5	NP_009087.1:p.(His141Arg)	NC_000023.10:g.57936433T>C	(Likely) benign	1 lab	d9b000b92a
10:73767949 CHST3 G>A	10	73767949	73767949	G	A	CHST3	c.1160G>A	NM_004273.5	NP_004264.2:p.(Arg387His)	NC_000010.10:g.73767949G>A	(Likely) benign	1 lab	d9b0e503b2
12:121432067 HNF1A C>T	12	121432067	121432067	C	T	HNF1A	c.814C>T	NM_000545.8	NP_000536.6:p.(Arg272Cys)	NC_000012.11:g.121432067C>T	(Likely) pathogenic	1 lab	d9b19ba8f4
15:80467377 FAH A>G	15	80467377	80467377	A	G	FAH	c.857A>G	NM_000137.4	NP_000128.1:p.(Tyr286Cys)	NC_000015.9:g.80467377A>G	VUS	1 lab	d9b25fa6d9
8:97157258 GDF6 C>T	8	97157258	97157258	C	T	GDF6	c.901G>A	NM_001001557.4	NP_001001557.1:p.(Glu301Lys)	NC_000008.10:g.97157258C>T	VUS	1 lab	d9b3d22a4e
18:2772348 SMCHD1 G>A	18	2772348	2772348	G	A	SMCHD1	c.5153G>A	NM_015295.3	NP_056110.2:p.(Gly1718Asp)	NC_000018.9:g.2772348G>A	(Likely) benign	1 lab	d9b40f5678
5:129084037 MINAR2 G>A	5	129084037	129084037	G	A	MINAR2	c.154G>A	NM_001257308.2	NP_001244237.1:p.(Val52Ile)	NC_000005.9:g.129084037G>A	VUS	1 lab	d9b53ccb4e
1:104085973 RNPC3 G>C	1	104085973	104085973	G	C	RNPC3	c.949G>C	NM_017619.4	NP_060089.1:p.(Gly317Arg)	NC_000001.10:g.104085973G>C	VUS	1 lab	d9b5fafaf1
20:36030022 SRC C>T	20	36030022	36030022	C	T	SRC	c.1057C>T	NM_198291.3	NP_938033.1:p.(Leu353Phe)	NC_000020.10:g.36030022C>T	VUS	1 lab	d9c370c5fe
15:74489673 STRA6 ACAAACCTGGGC>A	15	74489673	74489684	ACAAACCTGGGC	A	STRA6	c.261_266+5del	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74489674_74489684del	VUS	1 lab	d9b6d3818f
2:136626322 MCM6 G>C	2	136626322	136626322	G	C	MCM6	c.474C>G	NM_005915.6	NP_005906.2:p.(Cys158Trp)	NC_000002.11:g.136626322G>C	VUS	1 lab	d9b794a404
16:53734617 RPGRIP1L C>T	16	53734617	53734617	C	T	RPGRIP1L	c.19G>A	NM_015272.5	NP_056087.2:p.(Glu7Lys)	NC_000016.9:g.53734617C>T	VUS	1 lab	d9b7b74969
9:6556196 GLDC T>C	9	6556196	6556196	T	C	GLDC	c.2159A>G	NM_000170.3	NP_000161.2:p.(His720Arg)	NC_000009.11:g.6556196T>C	(Likely) benign	1 lab	d9b8509b2e
4:124322685 SPRY1 G>A	4	124322685	124322685	G	A	SPRY1	c.-55-7G>A	NM_001258038.2	NP_001244967.1:p.?	NC_000004.11:g.124322685G>A	VUS	1 lab	d9b8adc0c2
16:1837815 NUBP2 G>A	16	1837815	1837815	G	A	NUBP2	c.472G>A	NM_012225.4	NP_036357.1:p.(Val158Met)	NC_000016.9:g.1837815G>A	(Likely) benign	1 lab	d9b9db43ae
5:92920998 NR2F1 G>C	5	92920998	92920998	G	C	NR2F1	c.269G>C	NM_005654.6	NP_005645.1:p.(Gly90Ala)	NC_000005.9:g.92920998G>C	VUS	1 lab	d9bc8a0d60
15:89399281 ACAN C>T	15	89399281	89399281	C	T	ACAN	c.3465C>T	NM_001369268.1	NP_001356197.1:p.(Thr1155=)	NC_000015.9:g.89399281C>T	(Likely) benign	1 lab	d9be24ceaf
19:20116978 ZNF682 T>C	19	20116978	20116978	T	C	ZNF682	c.1333A>G	NM_033196.3	NP_149973.1:p.(Lys445Glu)	NC_000019.9:g.20116978T>C	(Likely) benign	1 lab	d9be6cfbd4
18:46808512 DYM G>T	18	46808512	46808512	G	T	DYM	c.980C>A	NM_001353214.3	NP_001340143.1:p.(Ala327Asp)	NC_000018.9:g.46808512G>T	VUS	1 lab	d9bef1a640
9:79827939 VPS13A C>T	9	79827939	79827939	C	T	VPS13A	c.610C>T	NM_033305.3	NP_150648.2:p.(Arg204Cys)	NC_000009.11:g.79827939C>T	VUS	1 lab	2c5175932e
17:78022555 CCDC40 G>C	17	78022555	78022555	G	C	CCDC40	c.850G>C	NM_017950.4	NP_060420.2:p.(Asp284His)	NC_000017.10:g.78022555G>C	(Likely) benign	1 lab	d9c0e7f5fa
1:46597618 PIK3R3 T>C	1	46597618	46597618	T	C	PIK3R3	c.7A>G	NM_003629.4	NP_003620.3:p.(Asn3Asp)	NC_000001.10:g.46597618T>C	VUS	1 lab	d9c18463d0
12:42499694 GXYLT1 A>T	12	42499694	42499694	A	T	GXYLT1	c.790T>A	NM_173601.2	NP_775872.1:p.(Tyr264Asn)	NC_000012.11:g.42499694A>T	(Likely) benign	1 lab	d9c21c8815
15:72302776 MYO9A C>T	15	72302776	72302776	C	T	MYO9A	c.1168G>A	NM_006901.4	NP_008832.2:p.(Val390Met)	NC_000015.9:g.72302776C>T	(Likely) benign	1 lab	d9c3269ba6
13:111117870 COL4A2 G>C	13	111117870	111117870	G	C	COL4A2	c.1895G>C	NM_001846.4	NP_001837.2:p.(Arg632Pro)	NC_000013.10:g.111117870G>C	(Likely) benign	1 lab	d9c3835813
20:44237458 WFDC9 GA>G	20	44237458	44237460	GA	G	WFDC9	c.92-10del	NM_147198.4	NP_671731.1:p.?	NC_000020.10:g.44237460del	(Likely) benign	1 lab	d9c3cdae45
X:70357566 MED12 T>C	X	70357566	70357566	T	C	MED12	c.5827-10T>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70357566T>C	VUS	1 lab	d9c3fcc54c
1:103444255 COL11A1 C>G	1	103444255	103444255	C	G	COL11A1	c.2754+9G>C	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103444255C>G	(Likely) benign	1 lab	d9c54a334f
9:6645310 GLDC C>T	9	6645310	6645310	C	T	GLDC	c.190G>A	NM_000170.3	NP_000161.2:p.(Ala64Thr)	NC_000009.11:g.6645310C>T	VUS	1 lab	d9c696220d
1:158323803 CD1E G>A	1	158323803	158323803	G	A	CD1E	c.25G>A	NM_030893.4	NP_112155.2:p.(Glu9Lys)	NC_000001.10:g.158323803G>A	VUS	1 lab	d9c8a9ed72
19:51171483 SHANK1 C>A	19	51171483	51171483	C	A	SHANK1	c.3734G>T	NM_016148.5	NP_057232.2:p.(Gly1245Val)	NC_000019.9:g.51171483C>A	(Likely) benign	1 lab	d9c8ae6dcc
3:127327727 MCM2 A>G	3	127327727	127327727	A	G	MCM2	c.1289A>G	NM_004526.4	NP_004517.2:p.(Asn430Ser)	NC_000003.11:g.127327727A>G	VUS	1 lab	d9c9737fe0
6:51908540 PKHD1 C>T	6	51908540	51908540	C	T	PKHD1	c.2716-12G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51908540C>T	(Likely) benign	1 lab	d9cbbfd409
9:117005823 COL27A1 G>A	9	117005823	117005823	G	A	COL27A1	c.2917G>A	NM_032888.4	NP_116277.2:p.(Gly973Ser)	NC_000009.11:g.117005823G>A	VUS	1 lab	d9ce8e889e
X:17745624 NHS T>C	X	17745624	17745624	T	C	NHS	c.3398T>C	NM_001291867.2	NP_001278796.1:p.(Ile1133Thr)	NC_000023.10:g.17745624T>C	VUS	1 lab	d9d02eceea
18:67863775 RTTN T>C	18	67863775	67863775	T	C	RTTN	c.803A>G	NM_173630.4	NP_775901.3:p.(Asn268Ser)	NC_000018.9:g.67863775T>C	VUS	1 lab	d9d20c6c02
8:145741247 RECQL4 C>T	8	145741247	145741247	C	T	RECQL4	c.1159G>A	NM_004260.4	NP_004251.4:p.(Gly387Arg)	NC_000008.10:g.145741247C>T	VUS	1 lab	d9d2891e2d
2:210843424 UNC80 A>G	2	210843424	210843424	A	G	UNC80	c.9110A>G	NM_001371986.1	NP_001358915.1:p.(Asp3037Gly)	NC_000002.11:g.210843424A>G	VUS	1 lab	d9d28ce9bf
2:54844825 SPTBN1 G>A	2	54844825	54844825	G	A	SPTBN1	c.647G>A	NM_003128.3	NP_003119.2:p.(Arg216Gln)	NC_000002.11:g.54844825G>A	VUS	1 lab	d9d2f7e7c0
7:94037499 COL1A2 C>T	7	94037499	94037499	C	T	COL1A2	c.644C>T	NM_000089.4	NP_000080.2:p.(Ala215Val)	NC_000007.13:g.94037499C>T	VUS	1 lab	d9d31a481b
20:43052752 HNF4A C>T	20	43052752	43052752	C	T	HNF4A	c.987C>T	NM_000457.5	NP_000448.3:p.(Asp329=)	NC_000020.10:g.43052752C>T	(Likely) benign	1 lab	d9d3b62fc3
1:155287962 FDPS G>A	1	155287962	155287962	G	A	FDPS	c.564G>A	NM_002004.4	NP_001995.1:p.(Pro188=)	NC_000001.10:g.155287962G>A	VUS	1 lab	d9d4d7826e
6:157527757 ARID1B G>A	6	157527757	157527757	G	A	ARID1B	c.5851G>A	NM_001374828.1	NP_001361757.1:p.(Glu1951Lys)	NC_000006.11:g.157527757G>A	(Likely) benign	1 lab	d9d5e525f9
15:63921018 HERC1 G>C	15	63921018	63921018	G	C	HERC1	c.12967-4C>G	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63921018G>C	(Likely) benign	1 lab	d9d6f3f406
2:234975214 SPP2 GA>G	2	234975214	234975217	GA	G	SPP2	c.485del	NM_006944.3	NP_008875.1:p.(Asn162ThrfsTer13)	NC_000002.11:g.234975217del	VUS	1 lab	d9da05ccbc
17:4805392 CHRNE C>A	17	4805392	4805392	C	A	CHRNE	c.345-10G>T	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4805392C>A	VUS	1 lab	d9dab3b945
3:25773838 NGLY1 C>G	3	25773838	25773838	C	G	NGLY1	c.1397G>C	NM_018297.4	NP_060767.2:p.(Arg466Thr)	NC_000003.11:g.25773838C>G	VUS	1 lab	2c5273f016
9:34658680 IL11RA G>A	9	34658680	34658680	G	A	IL11RA	c.810G>A	NM_001142784.3	NP_001136256.1:p.(Thr270=)	NC_000009.11:g.34658680G>A	VUS	1 lab	d9dcb90697
1:155451210 ASH1L C>T	1	155451210	155451210	C	T	ASH1L	c.1451G>A	NM_018489.3	NP_060959.2:p.(Arg484Gln)	NC_000001.10:g.155451210C>T	(Likely) benign	1 lab	d9e00cdf29
17:74289832 QRICH2 G>A	17	74289832	74289832	G	A	QRICH2	c.976C>T	NM_001388453.1	NP_001375382.1:p.(Arg326Ter)	NC_000017.10:g.74289832G>A	VUS	1 lab	d9f22d2117
18:72997854 TSHZ1 CGTCAG>C	18	72997854	72997859	CGTCAG	C	TSHZ1	c.493_497del	NM_001308210.2	NP_001295139.1:p.(Val165HisfsTer53)	NC_000018.9:g.72997855_72997859del	(Likely) benign	1 lab	d9e087f70c
5:96011252 CAST G>T	5	96011252	96011252	G	T	CAST	c.85G>T	NM_001750.7	NP_001741.4:p.(Glu29Ter)	NC_000005.9:g.96011252G>T	VUS	1 lab	d9e324c412
6:117201715 RFX6 A>G	6	117201715	117201715	A	G	RFX6	c.389A>G	NM_173560.4	NP_775831.2:p.(Glu130Gly)	NC_000006.11:g.117201715A>G	VUS	1 lab	d9e3b28ff5
14:95560254 DICER1 T>C	14	95560254	95560254	T	C	DICER1	c.5335A>G	NM_177438.3	NP_803187.1:p.(Lys1779Glu)	NC_000014.8:g.95560254T>C	VUS	1 lab	d9e3efcb97
8:108972961 RSPO2 C>T	8	108972961	108972961	C	T	RSPO2	c.368G>A	NM_178565.5	NP_848660.3:p.(Arg123His)	NC_000008.10:g.108972961C>T	VUS	1 lab	d9e3fbb7c1
7:156802461 MNX1 G>A	7	156802461	156802461	G	A	MNX1	c.584C>T	NM_005515.4	NP_005506.3:p.(Ala195Val)	NC_000007.13:g.156802461G>A	VUS	1 lab	d9e513ef8c
20:34022221 GDF5 C>T	20	34022221	34022221	C	T	GDF5	c.992G>A	NM_000557.5	NP_000548.2:p.(Arg331His)	NC_000020.10:g.34022221C>T	VUS	1 lab	da253b189d
5:115336146 LVRN G>A	5	115336146	115336146	G	A	LVRN	c.1532G>A	NM_173800.5	NP_776161.3:p.(Arg511Gln)	NC_000005.9:g.115336146G>A	VUS	1 lab	d9e8071b30
6:117246696 RFX6 G>A	6	117246696	117246696	G	A	RFX6	c.1759G>A	NM_173560.4	NP_775831.2:p.(Asp587Asn)	NC_000006.11:g.117246696G>A	VUS	1 lab	d9e8dbabe0
11:66460463 SPTBN2 T>C	11	66460463	66460463	T	C	SPTBN2	c.4963A>G	NM_006946.4	NP_008877.2:p.(Ile1655Val)	NC_000011.9:g.66460463T>C	VUS	1 lab	d9e9c33460
X:10469476 MID1 C>T	X	10469476	10469476	C	T	MID1	c.757-5745G>A	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10469476C>T	(Likely) benign	1 lab	d9ea6b4794
18:43668129 ATP5F1A T>C	18	43668129	43668129	T	C	ATP5F1A	c.745A>G	NM_004046.6	NP_004037.1:p.(Ile249Val)	NC_000018.9:g.43668129T>C	(Likely) benign	1 lab	d9ead1b506
20:23618286 CST3 C>A	20	23618286	23618286	C	A	CST3	c.214G>T	NM_000099.4	NP_000090.1:p.(Ala72Ser)	NC_000020.10:g.23618286C>A	(Likely) benign	1 lab	d9ebce3797
7:44187366 GCK CCCTCGT>C	7	44187366	44187374	CCCTCGT	C	GCK	c.740_745del	NM_000162.5	NP_000153.1:p.(Asp247_Glu248del)	NC_000007.13:g.44187369_44187374del	(Likely) pathogenic	1 lab	d9eca54703
18:50923714 DCC G>A	18	50923714	50923714	G	A	DCC	c.2725G>A	NM_005215.4	NP_005206.2:p.(Gly909Ser)	NC_000018.9:g.50923714G>A	VUS	1 lab	2c56d0b950
19:51165775 SHANK1 G>A	19	51165775	51165775	G	A	SHANK1	c.5933C>T	NM_016148.5	NP_057232.2:p.(Thr1978Met)	NC_000019.9:g.51165775G>A	(Likely) benign	1 lab	d9f2246cf6
6:31084191 CDSN T>C	6	31084191	31084191	T	C	CDSN	c.1201A>G	NM_001264.5	NP_001255.4:p.(Ser401Gly)	NC_000006.11:g.31084191T>C	(Likely) benign	1 lab	d9f2337736
11:17483336 ABCC8 G>A	11	17483336	17483336	G	A	ABCC8	c.616C>T	NM_000352.6	NP_000343.2:p.(Pro206Ser)	NC_000011.9:g.17483336G>A	VUS	1 lab	d9f26a27c5
16:2141807 PKD1 G>A	16	2141807	2141807	G	A	PKD1	c.11512C>T	NM_001009944.3	NP_001009944.3:p.(Gln3838Ter)	NC_000016.9:g.2141807G>A	(Likely) pathogenic	1 lab	d9f2effb45
8:10465371 RP1L1 G>T	8	10465371	10465371	G	T	RP1L1	c.6237C>A	NM_178857.6	NP_849188.4:p.(His2079Gln)	NC_000008.10:g.10465371G>T	(Likely) benign	1 lab	d9f44ad604
17:60033033 MED13 T>C	17	60033033	60033033	T	C	MED13	c.5782+8A>G	NM_005121.3	NP_005112.2:p.?	NC_000017.10:g.60033033T>C	(Likely) benign	1 lab	d9f520a597
17:26864204 FOXN1 C>T	17	26864204	26864204	C	T	FOXN1	c.1697C>T	NM_001369369.1	NP_001356298.1:p.(Pro566Leu)	NC_000017.10:g.26864204C>T	VUS	1 lab	d9f56ed8ff
8:95265299 GEM C>T	8	95265299	95265299	C	T	GEM	c.373G>A	NM_005261.4	NP_005252.1:p.(Ala125Thr)	NC_000008.10:g.95265299C>T	VUS	1 lab	d9f6db9665
12:49445961 KMT2D G>A	12	49445961	49445961	G	A	KMT2D	c.1505C>T	NM_003482.4	NP_003473.3:p.(Pro502Leu)	NC_000012.11:g.49445961G>A	VUS	1 lab	d9f84bda5e
1:210637858 HHAT C>T	1	210637858	210637858	C	T	HHAT	c.866C>T	NM_018194.6	NP_060664.2:p.(Ala289Val)	NC_000001.10:g.210637858C>T	VUS	1 lab	d9f8fd4d60
6:30627559 DHX16 T>C	6	30627559	30627559	T	C	DHX16	c.1808A>G	NM_003587.5	NP_003578.2:p.(His603Arg)	NC_000006.11:g.30627559T>C	VUS	1 lab	d9fc10ed5e
11:108165790 ATM C>T	11	108165790	108165790	C	T	ATM	c.4909+4C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108165790C>T	VUS	1 lab	d9fe76e4f7
X:24331195 SUPT20HL2 T>C	X	24331195	24331195	T	C	SUPT20HL2	c.238A>G	NM_001136233.3	NP_001129705.3:p.(Asn80Asp)	NC_000023.10:g.24331195T>C	VUS	1 lab	da003da34c
3:14176670 TMEM43 C>G	3	14176670	14176670	C	G	TMEM43	c.718C>G	NM_024334.3	NP_077310.1:p.(Arg240Gly)	NC_000003.11:g.14176670C>G	(Likely) benign	1 lab	2c57656f7f
7:116199252 CAV1 A>G	7	116199252	116199252	A	G	CAV1	c.448A>G	NM_001753.5	NP_001744.2:p.(Ile150Val)	NC_000007.13:g.116199252A>G	VUS	1 lab	da02f841fe
19:13192484 NFIX G>A	19	13192484	13192484	G	A	NFIX	c.1079-10G>A	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13192484G>A	(Likely) benign	1 lab	da0412b053
20:60639732 TAF4 T>C	20	60639732	60639732	T	C	TAF4	c.1135A>G	NM_003185.4	NP_003176.2:p.(Met379Val)	NC_000020.10:g.60639732T>C	(Likely) benign	1 lab	da05185df0
X:101396231 TCEAL6 C>T	X	101396231	101396231	C	T	TCEAL6	c.73G>A	NM_001367790.1	NP_001354719.1:p.(Asp25Asn)	NC_000023.10:g.101396231C>T	(Likely) benign	1 lab	da052f4dc8
17:43319434 FMNL1 TCCGCCG>T	17	43319434	43319460	TCCGCCG	T	FMNL1	c.1827_1832del	NM_005892.4	NP_005883.3:p.(Pro611_Pro612del)	NC_000017.10:g.43319455_43319460del	VUS	1 lab	da0531a606
17:61489350 TANC2 G>A	17	61489350	61489350	G	A	TANC2	c.3766-9G>A	NM_001394998.1	NP_001381927.1:p.?	NC_000017.10:g.61489350G>A	(Likely) benign	1 lab	da077e4d9d
19:5222796 PTPRS C>T	19	5222796	5222796	C	T	PTPRS	c.3007G>A	NM_002850.4	NP_002841.3:p.(Asp1003Asn)	NC_000019.9:g.5222796C>T	VUS	1 lab	da07e672ad
21:46888579 COL18A1 A>G	21	46888579	46888579	A	G	COL18A1	c.530A>G	NM_001379500.1	NP_001366429.1:p.(Tyr177Cys)	NC_000021.8:g.46888579A>G	VUS	1 lab	da08573c90
20:126099 DEFB126 CAAG>C	20	126099	126108	CAAG	C	DEFB126	c.109_111del	NM_030931.4	NP_112193.1:p.(Lys37del)	NC_000020.10:g.126106_126108del	VUS	1 lab	da0a2d42aa
17:1399467 INPP5K G>C	17	1399467	1399467	G	C	INPP5K	c.1186-9C>G	NM_016532.4	NP_057616.2:p.?	NC_000017.10:g.1399467G>C	(Likely) benign	1 lab	da0b928ba7
8:100568884 VPS13B A>T	8	100568884	100568884	A	T	VPS13B	c.4949+3A>T	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100568884A>T	VUS	1 lab	da0bd32a75
X:153220957 HCFC1 C>T	X	153220957	153220957	C	T	HCFC1	c.2893G>A	NM_005334.3	NP_005325.2:p.(Ala965Thr)	NC_000023.10:g.153220957C>T	VUS	1 lab	da0ef1260f
11:126301344 KIRREL3 C>G	11	126301344	126301344	C	G	KIRREL3	c.1666G>C	NM_032531.4	NP_115920.1:p.(Val556Leu)	NC_000011.9:g.126301344C>G	(Likely) benign	1 lab	da10fc62dd
2:152496910 NEB C>T	2	152496910	152496910	C	T	NEB	c.8644G>A	NM_001164508.2	NP_001157980.2:p.(Asp2882Asn)	NC_000002.11:g.152496910C>T	VUS	1 lab	da11bf1b08
3:47163824 SETD2 C>G	3	47163824	47163824	C	G	SETD2	c.2302G>C	NM_014159.7	NP_054878.5:p.(Val768Leu)	NC_000003.11:g.47163824C>G	(Likely) benign	1 lab	da11f898e8
5:149495498 PDGFRB T>C	5	149495498	149495498	T	C	PDGFRB	c.3149A>G	NM_002609.4	NP_002600.1:p.(Asn1050Ser)	NC_000005.9:g.149495498T>C	VUS	1 lab	da12455042
1:176759080 PAPPA2 G>C	1	176759080	176759080	G	C	PAPPA2	c.4851G>C	NM_020318.3	NP_064714.2:p.(Gln1617His)	NC_000001.10:g.176759080G>C	(Likely) benign	1 lab	da12c9e3c7
9:135771639 TSC1 G>A	9	135771639	135771639	G	A	TSC1	c.3478C>T	NM_000368.5	NP_000359.1:p.(His1160Tyr)	NC_000009.11:g.135771639G>A	VUS	1 lab	da1395825e
17:48263306 COL1A1 C>T	17	48263306	48263306	C	T	COL1A1	c.4081G>A	NM_000088.4	NP_000079.2:p.(Glu1361Lys)	NC_000017.10:g.48263306C>T	VUS	1 lab	da13bc47b5
17:2583545 PAFAH1B1 G>A	17	2583545	2583545	G	A	PAFAH1B1	c.1090G>A	NM_000430.4	NP_000421.1:p.(Val364Ile)	NC_000017.10:g.2583545G>A	VUS	1 lab	da143b8914
19:7267547 INSR T>TGCCCGCGGTCAGAAATGGGGC	19	7267547	7267548	T	TGCCCGCGGTCAGAAATGGGGC	INSR	c.460_461insGCCCCATTTCTGACCGCGGGC	NM_000208.4	NP_000199.2:p.(Tyr154delinsCysProIleSerAspArgGlyHis)	NC_000019.9:g.7267547_7267548insGCCCGCGGTCAGAAATGGGGC	(Likely) pathogenic	1 lab	da15fe03f7
10:27382726 ANKRD26 G>A	10	27382726	27382726	G	A	ANKRD26	c.245C>T	NM_014915.3	NP_055730.2:p.(Thr82Met)	NC_000010.10:g.27382726G>A	VUS	1 lab	da17cdc036
19:36224340 KMT2B C>A	19	36224340	36224340	C	A	KMT2B	c.6890C>A	NM_014727.3	NP_055542.1:p.(Ala2297Asp)	NC_000019.9:g.36224340C>A	(Likely) benign	1 lab	da19a1202c
11:108216478 ATM A>G	11	108216478	108216478	A	G	ATM	c.8427A>G	NM_000051.4	NP_000042.3:p.(Gln2809=)	NC_000011.9:g.108216478A>G	(Likely) benign	1 lab	da1a5b89a8
2:241862040 CROCC2 C>T	2	241862040	241862040	C	T	CROCC2	c.466C>T	NM_001351305.2	NP_001338234.1:p.(Arg156Cys)	NC_000002.11:g.241862040C>T	VUS	1 lab	da1b4d4b8e
3:183210336 KLHL6 C>T	3	183210336	183210336	C	T	KLHL6	c.1510G>A	NM_130446.4	NP_569713.2:p.(Val504Met)	NC_000003.11:g.183210336C>T	VUS	1 lab	da1b80c46a
12:31247713 DDX11 A>G	12	31247713	31247713	A	G	DDX11	c.1439A>G	NM_030653.4	NP_085911.2:p.(Asp480Gly)	NC_000012.11:g.31247713A>G	VUS	1 lab	da1be6f585
5:147513385 SPINK5 C>T	5	147513385	147513385	C	T	SPINK5	c.3121C>T	NM_006846.4	NP_006837.2:p.(Arg1041Cys)	NC_000005.9:g.147513385C>T	VUS	1 lab	da1c3597df
3:178916824 PIK3CA G>A	3	178916824	178916824	G	A	PIK3CA	c.211G>A	NM_006218.4	NP_006209.2:p.(Val71Ile)	NC_000003.11:g.178916824G>A	VUS	1 lab	da1cab0787
2:179402639 TTN C>T	2	179402639	179402639	C	T	TTN	c.99295G>A	NM_001267550.2	NP_001254479.2:p.(Glu33099Lys)	NC_000002.11:g.179402639C>T	(Likely) benign	1 lab	da1d0578d7
9:116997869 COL27A1 G>A	9	116997869	116997869	G	A	COL27A1	c.2566-10G>A	NM_032888.4	NP_116277.2:p.?	NC_000009.11:g.116997869G>A	(Likely) benign	1 lab	da1d5a4f52
10:18828363 CACNB2 TC>T	10	18828363	18828364	TC	T	CACNB2	c.1694del	NM_201596.3	NP_963890.2:p.(Ser565LeufsTer4)	NC_000010.10:g.18828364del	VUS	1 lab	da1e0fd2f4
12:96368086 HAL G>C	12	96368086	96368086	G	C	HAL	c.1898C>G	NM_002108.4	NP_002099.1:p.(Pro633Arg)	NC_000012.11:g.96368086G>C	VUS	1 lab	da1eb556db
19:46181257 GIPR G>A	19	46181257	46181257	G	A	GIPR	c.1013+5G>A	NM_000164.4	NP_000155.1:p.?	NC_000019.9:g.46181257G>A	VUS	1 lab	da204634db
17:40353796 STAT5B C>T	17	40353796	40353796	C	T	STAT5B	c.2324G>A	NM_012448.4	NP_036580.2:p.(Arg775Gln)	NC_000017.10:g.40353796C>T	VUS	1 lab	da22c658c1
17:4542753 ALOX15 G>C	17	4542753	4542753	G	C	ALOX15	c.309C>G	NM_001140.5	NP_001131.3:p.(Asn103Lys)	NC_000017.10:g.4542753G>C	(Likely) benign	1 lab	da235f0e61
7:2583596 BRAT1 C>T	7	2583596	2583596	C	T	BRAT1	c.431G>A	NM_152743.4	NP_689956.2:p.(Gly144Asp)	NC_000007.13:g.2583596C>T	(Likely) benign	1 lab	da2368caa6
3:197463533 RUBCN C>T	3	197463533	197463533	C	T	RUBCN	c.58G>A	NM_014687.4	NP_055502.1:p.(Glu20Lys)	NC_000003.11:g.197463533C>T	VUS	1 lab	da24489230
19:47978716 KPTN T>C	19	47978716	47978716	T	C	KPTN	c.1268A>G	NM_007059.4	NP_008990.2:p.(Glu423Gly)	NC_000019.9:g.47978716T>C	(Likely) benign	1 lab	da24d02a93
1:103496805 COL11A1 G>GGAA	1	103496805	103496806	G	GGAA	COL11A1	c.652-6_652-5insTTC	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103496805_103496806insGAA	(Likely) benign	1 lab	da24d6b0ed
15:101561378 LRRK1 A>G	15	101561378	101561378	A	G	LRRK1	c.1730A>G	NM_024652.6	NP_078928.3:p.(Tyr577Cys)	NC_000015.9:g.101561378A>G	VUS	1 lab	da24e65b9c
1:171605081 MYOC T>C	1	171605081	171605081	T	C	MYOC	c.1499A>G	NM_000261.2	NP_000252.1:p.(Lys500Arg)	NC_000001.10:g.171605081T>C	(Likely) benign	1 lab	da24ea6606
9:129455806 LMX1B C>A	9	129455806	129455806	C	A	LMX1B	c.745C>A	NM_001174147.2	NP_001167618.1:p.(Arg249=)	NC_000009.11:g.129455806C>A	VUS	1 lab	da2571545c
1:220825377 MARK1 G>C	1	220825377	220825377	G	C	MARK1	c.1621G>C	NM_018650.5	NP_061120.3:p.(Ala541Pro)	NC_000001.10:g.220825377G>C	(Likely) benign	1 lab	da26ad9454
11:72145307 CLPB C>G	11	72145307	72145307	C	G	CLPB	c.212G>C	NM_001258392.3	NP_001245321.1:p.(Gly71Ala)	NC_000011.9:g.72145307C>G	(Likely) benign	1 lab	da2862bb1e
3:15686331 BTD A>G	3	15686331	15686331	A	G	BTD	c.908A>G	NM_001370658.1	NP_001357587.1:p.(His303Arg)	NC_000003.11:g.15686331A>G	VUS	1 lab	da2b352bd4
7:158534424 ESYT2 A>G	7	158534424	158534424	A	G	ESYT2	c.1958T>C	NM_001367773.1	NP_001354702.1:p.(Ile653Thr)	NC_000007.13:g.158534424A>G	(Likely) benign	1 lab	da2b645fde
3:183860063 EIF2B5 G>A	3	183860063	183860063	G	A	EIF2B5	c.1341G>A	NM_003907.3	NP_003898.2:p.(Ser447=)	NC_000003.11:g.183860063G>A	(Likely) benign	1 lab	da2ba55779
1:120491036 NOTCH2 C>G	1	120491036	120491036	C	G	NOTCH2	c.2752+1G>C	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120491036C>G	VUS	1 lab	da2ca16362
4:111543435 PITX2 T>A	4	111543435	111543435	T	A	PITX2	c.182A>T	NM_000325.6	NP_000316.2:p.(Asp61Val)	NC_000004.11:g.111543435T>A	VUS	1 lab	da2cff5a7e
6:160148741 WTAP C>T	6	160148741	160148741	C	T	WTAP	c.-9+6C>T	NM_001270531.2	NP_001257460.1:p.?	NC_000006.11:g.160148741C>T	(Likely) benign	1 lab	da2db80b8f
3:192125943 FGF12 C>G	3	192125943	192125943	C	G	FGF12	c.14-47616G>C	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192125943C>G	(Likely) benign	1 lab	da2eacbe02
8:145738410 RECQL4 TGGTGCA>T	8	145738410	145738430	TGGTGCA	T	RECQL4	c.2569_2574del	NM_004260.4	NP_004251.4:p.(Cys857_Thr858del)	NC_000008.10:g.145738425_145738430del	VUS	1 lab	da2f125f06
16:70954915 HYDIN G>T	16	70954915	70954915	G	T	HYDIN	c.7364C>A	NM_001270974.2	NP_001257903.1:p.(Pro2455Gln)	NC_000016.9:g.70954915G>T	(Likely) benign	1 lab	2c5df8a4a0
3:172165997 GHSR C>T	3	172165997	172165997	C	T	GHSR	c.207G>A	NM_198407.2	NP_940799.1:p.(Ser69=)	NC_000003.11:g.172165997C>T	(Likely) benign	1 lab	da2f9325e5
16:2164321 PKD1 C>A	16	2164321	2164321	C	A	PKD1	c.2703G>T	NM_001009944.3	NP_001009944.3:p.(Trp901Cys)	NC_000016.9:g.2164321C>A	VUS	1 lab	da3139610e
16:28847504 ATXN2L T>C	16	28847504	28847504	T	C	ATXN2L	c.3146T>C	NM_007245.4	NP_009176.2:p.(Phe1049Ser)	NC_000016.9:g.28847504T>C	VUS	1 lab	da32d35583
6:42932124 PEX6 C>CT	6	42932124	42932125	C	CT	PEX6	c.2891dup	NM_000287.4	NP_000278.3:p.(Gln965AlafsTer34)	NC_000006.11:g.42932125dup	VUS	1 lab	da331a6086
10:116931015 ATRNL1 A>G	10	116931015	116931015	A	G	ATRNL1	c.1313A>G	NM_207303.4	NP_997186.1:p.(Tyr438Cys)	NC_000010.10:g.116931015A>G	(Likely) benign	1 lab	da3455de58
1:150230578 CA14 G>T	1	150230578	150230578	G	T	CA14	c.55G>T	NM_012113.3	NP_036245.1:p.(Gly19Cys)	NC_000001.10:g.150230578G>T	VUS	1 lab	da34ea6acc
16:79633253 MAF G>T	16	79633253	79633253	G	T	MAF	c.547C>A	NM_005360.5	NP_005351.2:p.(His183Asn)	NC_000016.9:g.79633253G>T	VUS	1 lab	da36ca27d4
18:22030746 IMPACT G>T	18	22030746	22030746	G	T	IMPACT	c.898G>T	NM_018439.4	NP_060909.2:p.(Glu300Ter)	NC_000018.9:g.22030746G>T	VUS	1 lab	da370a596e
11:46408022 CHRM4 G>A	11	46408022	46408022	G	A	CHRM4	c.86C>T	NM_000741.5	NP_000732.2:p.(Thr29Met)	NC_000011.9:g.46408022G>A	VUS	1 lab	da37b8a7ab
17:18881605 SACK1G C>A	17	18881605	18881605	C	A	SACK1G	c.1374G>T	NM_001039999.3	NP_001035088.2:p.(Gln458His)	NC_000017.10:g.18881605C>A	(Likely) benign	1 lab	da38af6426
11:125893365 CDON G>A	11	125893365	125893365	G	A	CDON	c.7C>T	NM_001378964.1	NP_001365893.1:p.(Pro3Ser)	NC_000011.9:g.125893365G>A	(Likely) benign	1 lab	da39669f3b
17:16004705 NCOR1 C>T	17	16004705	16004705	C	T	NCOR1	c.2549G>A	NM_006311.4	NP_006302.2:p.(Ser850Asn)	NC_000017.10:g.16004705C>T	(Likely) benign	1 lab	da39f2d7e8
X:57162412 SPIN2A C>G	X	57162412	57162412	C	G	SPIN2A	c.619G>C	NM_019003.5	NP_061876.3:p.(Asp207His)	NC_000023.10:g.57162412C>G	(Likely) benign	1 lab	da3a40f984
4:73957947 ANKRD17 T>A	4	73957947	73957947	T	A	ANKRD17	c.5398A>T	NM_032217.5	NP_115593.3:p.(Ile1800Phe)	NC_000004.11:g.73957947T>A	(Likely) benign	1 lab	da3b4f4b3b
17:26861993 FOXN1 G>A	17	26861993	26861993	G	A	FOXN1	c.1404G>A	NM_001369369.1	NP_001356298.1:p.(Pro468=)	NC_000017.10:g.26861993G>A	VUS	1 lab	da3b8adacb
1:114682445 SYT6 G>A	1	114682445	114682445	G	A	SYT6	c.304C>T	NM_001253772.2	NP_001240701.1:p.(Pro102Ser)	NC_000001.10:g.114682445G>A	VUS	1 lab	da3c399b3f
8:110476705 PKHD1L1 A>C	8	110476705	110476705	A	C	PKHD1L1	c.7644A>C	NM_177531.6	NP_803875.2:p.(Gln2548His)	NC_000008.10:g.110476705A>C	VUS	1 lab	da3d16a869
21:32575261 TIAM1 A>T	21	32575261	32575261	A	T	TIAM1	c.2456T>A	NM_001353694.2	NP_001340623.1:p.(Leu819His)	NC_000021.8:g.32575261A>T	(Likely) benign	1 lab	da3f8d6e33
12:66771006 GRIP1 G>T	12	66771006	66771006	G	T	GRIP1	c.2681C>A	NM_001366722.1	NP_001353651.1:p.(Ala894Glu)	NC_000012.11:g.66771006G>T	VUS	1 lab	da3fcc9d2a
6:132193248 ENPP1 ATCTT>A	6	132193248	132193253	ATCTT	A	ENPP1	c.1437+9_1437+12del	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132193250_132193253del	(Likely) benign	1 lab	da402301c7
19:1462180 APC2 G>A	19	1462180	1462180	G	A	APC2	c.1853+4G>A	NM_005883.3	NP_005874.1:p.?	NC_000019.9:g.1462180G>A	(Likely) benign	1 lab	da42d92f8a
19:55645300 TNNT1 G>A	19	55645300	55645300	G	A	TNNT1	c.751-5C>T	NM_003283.6	NP_003274.3:p.?	NC_000019.9:g.55645300G>A	(Likely) benign	1 lab	da44006bbe
14:30099949 PRKD1 G>A	14	30099949	30099949	G	A	PRKD1	c.1671C>T	NM_002742.3	NP_002733.2:p.(His557=)	NC_000014.8:g.30099949G>A	(Likely) benign	1 lab	da447bff53
1:152286251 FLG A>T	1	152286251	152286251	A	T	FLG	c.1111T>A	NM_002016.2	NP_002007.1:p.(Ser371Thr)	NC_000001.10:g.152286251A>T	VUS	1 lab	da4495d139
2:241705151 KIF1A T>A	2	241705151	241705151	T	A	KIF1A	c.1744A>T	NM_001244008.2	NP_001230937.1:p.(Thr582Ser)	NC_000002.11:g.241705151T>A	VUS	1 lab	da44a668de
2:219208202 PNKD TACCCTCCA>T	2	219208202	219208214	TACCCTCCA	T	PNKD	c.782-16_782-9del	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219208207_219208214del	VUS	1 lab	da4855ac3b
14:92454633 TRIP11 C>T	14	92454633	92454633	C	T	TRIP11	c.5255G>A	NM_004239.4	NP_004230.2:p.(Arg1752Lys)	NC_000014.8:g.92454633C>T	(Likely) benign	1 lab	da4c2784e6
1:1267040 TAS1R3 T>G	1	1267040	1267040	T	G	TAS1R3	c.214T>G	NM_152228.3	NP_689414.2:p.(Trp72Gly)	NC_000001.10:g.1267040T>G	(Likely) benign	1 lab	da4c3f6ba9
6:152527418 SYNE1 G>A	6	152527418	152527418	G	A	SYNE1	c.22904C>T	NM_182961.4	NP_892006.3:p.(Ala7635Val)	NC_000006.11:g.152527418G>A	(Likely) benign	1 lab	da4cd3bc27
X:99663127 PCDH19 C>T	X	99663127	99663127	C	T	PCDH19	c.469G>A	NM_001184880.2	NP_001171809.1:p.(Asp157Asn)	NC_000023.10:g.99663127C>T	(Likely) pathogenic	1 lab	2c60bac25c
19:8654881 ADAMTS10 G>A	19	8654881	8654881	G	A	ADAMTS10	c.1798-6C>T	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8654881G>A	(Likely) benign	1 lab	da4ee8baa7
11:117093983 PCSK7 C>T	11	117093983	117093983	C	T	PCSK7	c.1096G>A	NM_004716.4	NP_004707.2:p.(Glu366Lys)	NC_000011.9:g.117093983C>T	(Likely) benign	1 lab	da4ef87e51
6:20546628 CDKAL1 T>C	6	20546628	20546628	T	C	CDKAL1	c.47T>C	NM_017774.3	NP_060244.2:p.(Ile16Thr)	NC_000006.11:g.20546628T>C	VUS	1 lab	da5113d451
16:23695191 PLK1 C>T	16	23695191	23695191	C	T	PLK1	c.817C>T	NM_005030.6	NP_005021.2:p.(His273Tyr)	NC_000016.9:g.23695191C>T	VUS	1 lab	2c61ade685
5:140907265 DIAPH1 C>A	5	140907265	140907265	C	A	DIAPH1	c.3149-1G>T	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907265C>A	(Likely) benign	1 lab	2c65f57968
1:228431164 OBSCN G>T	1	228431164	228431164	G	T	OBSCN	c.3481+5G>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228431164G>T	(Likely) benign	1 lab	da536f1a5e
2:166897985 SCN1A T>TA	2	166897985	166897986	T	TA	SCN1A	c.2177-7_2177-6insT	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897985_166897986insA	(Likely) benign	1 lab	da54496a06
16:57494516 COQ9 G>A	16	57494516	57494516	G	A	COQ9	c.937G>A	NM_020312.4	NP_064708.1:p.(Gly313Ser)	NC_000016.9:g.57494516G>A	VUS	1 lab	da92227abc
6:29641207 ZFP57 C>T	6	29641207	29641207	C	T	ZFP57	c.681G>A	NM_001109809.5	NP_001103279.2:p.(Gly227=)	NC_000006.11:g.29641207C>T	(Likely) benign	1 lab	da566481cc
1:12387783 VPS13D G>A	1	12387783	12387783	G	A	VPS13D	c.8069G>A	NM_015378.4	NP_056193.2:p.(Arg2690Gln)	NC_000001.10:g.12387783G>A	VUS	1 lab	da56d42ade
19:36221279 KMT2B C>T	19	36221279	36221279	C	T	KMT2B	c.5113C>T	NM_014727.3	NP_055542.1:p.(Arg1705Ter)	NC_000019.9:g.36221279C>T	(Likely) pathogenic	1 lab	2c68363ddc
1:22214464 HSPG2 C>T	1	22214464	22214464	C	T	HSPG2	c.670G>A	NM_005529.7	NP_005520.4:p.(Asp224Asn)	NC_000001.10:g.22214464C>T	VUS	1 lab	da57c19462
16:774922 CCDC78 T>A	16	774922	774922	T	A	CCDC78	c.628A>T	NM_001378030.1	NP_001364959.1:p.(Thr210Ser)	NC_000016.9:g.774922T>A	VUS	1 lab	da5a07e725
8:119122916 EXT1 CT>C	8	119122916	119122921	CT	C	EXT1	c.369del	NM_000127.3	NP_000118.2:p.(Glu125ArgfsTer11)	NC_000008.10:g.119122921del	(Likely) pathogenic	1 lab	da5a2f424a
4:1803121 FGFR3 G>A	4	1803121	1803121	G	A	FGFR3	c.473G>A	NM_000142.5	NP_000133.1:p.(Arg158Gln)	NC_000004.11:g.1803121G>A	VUS	1 lab	da5a35b0be
18:24128367 KCTD1 T>TGGC	18	24128367	24128376	T	TGGC	KCTD1	c.131_133dup	NM_001142730.3	NP_001136202.1:p.(Arg44dup)	NC_000018.9:g.24128374_24128376dup	(Likely) benign	1 lab	da5acaaf39
X:6451812 VCX3A C>CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	X	6451812	6451871	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	VCX3A	c.505_534dup	NM_016379.4	NP_057463.2:p.(Gln169_Ser178dup)	NC_000023.10:g.6451842_6451871dup	VUS	1 lab	da5e022b04
11:108124730 ATM A>T	11	108124730	108124730	A	T	ATM	c.2088A>T	NM_000051.4	NP_000042.3:p.(Gly696=)	NC_000011.9:g.108124730A>T	VUS	1 lab	da5e4f445d
X:63488716 MTMR8 C>T	X	63488716	63488716	C	T	MTMR8	c.1816G>A	NM_017677.4	NP_060147.2:p.(Ala606Thr)	NC_000023.10:g.63488716C>T	(Likely) benign	1 lab	da5e9548cc
12:65563728 LEMD3 C>G	12	65563728	65563728	C	G	LEMD3	c.352C>G	NM_014319.5	NP_055134.2:p.(Leu118Val)	NC_000012.11:g.65563728C>G	(Likely) benign	1 lab	da6071b80d
9:135946704 CEL G>A	9	135946704	135946704	G	A	CEL	c.1815G>A	NM_001807.6	NP_001798.3:p.(Pro605=)	NC_000009.11:g.135946704G>A	(Likely) benign	1 lab	da6294c3a4
17:78092476 GAA C>T	17	78092476	78092476	C	T	GAA	c.2671C>T	NM_000152.5	NP_000143.2:p.(Arg891Cys)	NC_000017.10:g.78092476C>T	VUS	1 lab	da62a11e63
X:2850443 ARSD T>G	X	2850443	2850443	T	G	ARSD				NC_000023.10:g.2850443T>G	(Likely) benign	1 lab	dceedff624
13:23910952 SACS C>T	13	23910952	23910952	C	T	SACS	c.7063G>A	NM_014363.6	NP_055178.3:p.(Asp2355Asn)	NC_000013.10:g.23910952C>T	VUS	1 lab	da62b9cfdb
9:95481260 BICD2 T>G	9	95481260	95481260	T	G	BICD2	c.1667A>C	NM_001003800.2	NP_001003800.1:p.(Tyr556Ser)	NC_000009.11:g.95481260T>G	VUS	1 lab	da63806b55
4:47765401 CORIN A>C	4	47765401	47765401	A	C	CORIN	c.612T>G	NM_006587.4	NP_006578.2:p.(Asp204Glu)	NC_000004.11:g.47765401A>C	(Likely) benign	1 lab	da6392d405
6:42941733 PEX6 C>G	6	42941733	42941733	C	G	PEX6	c.1130+8G>C	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42941733C>G	(Likely) benign	1 lab	da63e0d865
3:47165765 SETD2 C>T	3	47165765	47165765	C	T	SETD2	c.361G>A	NM_014159.7	NP_054878.5:p.(Gly121Ser)	NC_000003.11:g.47165765C>T	(Likely) benign	1 lab	da6454a7c6
19:17007378 CPAMD8 G>T	19	17007378	17007378	G	T	CPAMD8	c.5164C>A	NM_015692.5	NP_056507.3:p.(Pro1722Thr)	NC_000019.9:g.17007378G>T	(Likely) benign	1 lab	da6572d1ee
15:34080631 RYR3 A>G	15	34080631	34080631	A	G	RYR3	c.9802A>G	NM_001036.6	NP_001027.3:p.(Met3268Val)	NC_000015.9:g.34080631A>G	(Likely) benign	1 lab	da65bc124b
22:51135984 SHANK3 G>C	22	51135984	51135984	G	C	SHANK3	c.1567-1G>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135984G>C	VUS	1 lab	da669e3dc6
6:157494972 ARID1B C>T	6	157494972	157494972	C	T	ARID1B	c.3236-170C>T	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157494972C>T	(Likely) benign	1 lab	da671834d7
12:53343071 KRT18 C>T	12	53343071	53343071	C	T	KRT18	c.114C>T	NM_000224.3	NP_000215.1:p.(Gly38=)	NC_000012.11:g.53343071C>T	VUS	1 lab	da673f25f2
6:158567862 SERAC1 TG>T	6	158567862	158567864	TG	T	SERAC1	c.438del	NM_032861.4	NP_116250.3:p.(Thr147ArgfsTer22)	NC_000006.11:g.158567864del	VUS	1 lab	da68f76355
2:200193521 SATB2 C>T	2	200193521	200193521	C	T	SATB2	c.1286G>A	NM_001172509.2	NP_001165980.1:p.(Arg429Gln)	NC_000002.11:g.200193521C>T	VUS	1 lab	da69999dc0
11:75280194 SERPINH1 T>C	11	75280194	75280194	T	C	SERPINH1	c.932T>C	NM_001235.5	NP_001226.2:p.(Val311Ala)	NC_000011.9:g.75280194T>C	VUS	1 lab	da6a9a4752
6:564659 EXOC2 C>T	6	564659	564659	C	T	EXOC2	c.1553G>A	NM_018303.6	NP_060773.3:p.(Arg518His)	NC_000006.11:g.564659C>T	VUS	1 lab	da6d379fad
12:125453095 DHX37 G>A	12	125453095	125453095	G	A	DHX37	c.1393C>T	NM_032656.4	NP_116045.2:p.(Arg465Trp)	NC_000012.11:g.125453095G>A	VUS	1 lab	da6e780f8a
X:151123369 GABRE G>T	X	151123369	151123369	G	T	GABRE	c.1325C>A	NM_004961.4	NP_004952.2:p.(Ser442Tyr)	NC_000023.10:g.151123369G>T	VUS	1 lab	da6e9deeb7
4:1216033 CTBP1 G>T	4	1216033	1216033	G	T	CTBP1	c.514+3115C>A	NM_001012614.2	NP_001012632.1:p.?	NC_000004.11:g.1216033G>T	(Likely) benign	1 lab	da713bd690
10:112595686 RBM20 AG>A	10	112595686	112595688	AG	A	RBM20	c.3636del	NM_001134363.3	NP_001127835.2:p.(Arg1212SerfsTer36)	NC_000010.10:g.112595688del	VUS	1 lab	da725e99f1
2:211158524 MYL1 C>T	2	211158524	211158524	C	T	MYL1	c.479G>A	NM_079420.3	NP_524144.1:p.(Gly160Asp)	NC_000002.11:g.211158524C>T	VUS	1 lab	da747944db
5:93753083 KIAA0825 G>A	5	93753083	93753083	G	A	KIAA0825	c.2498-13C>T	NM_001145678.3	NP_001139150.1:p.?	NC_000005.9:g.93753083G>A	(Likely) benign	1 lab	da784ea6a0
19:18896564 COMP G>A	19	18896564	18896564	G	A	COMP	c.1587C>T	NM_000095.3	NP_000086.2:p.(Thr529=)	NC_000019.9:g.18896564G>A	(Likely) benign	1 lab	da7b87a14e
19:15284955 NOTCH3 T>C	19	15284955	15284955	T	C	NOTCH3	c.4660A>G	NM_000435.3	NP_000426.2:p.(Met1554Val)	NC_000019.9:g.15284955T>C	VUS	1 lab	da7c26251e
18:42281357 SETBP1 G>A	18	42281357	42281357	G	A	SETBP1	c.46G>A	NM_015559.3	NP_056374.2:p.(Glu16Lys)	NC_000018.9:g.42281357G>A	(Likely) benign	1 lab	da7ce16f45
17:61995511 GH1 G>A	17	61995511	61995511	G	A	GH1	c.172-15C>T	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995511G>A	VUS	1 lab	da7d6a3ecb
1:247608069 NLRP3 T>C	1	247608069	247608069	T	C	NLRP3	c.2951T>C	NM_001243133.2	NP_001230062.1:p.(Val984Ala)	NC_000001.10:g.247608069T>C	VUS	1 lab	da8081e56c
16:72828024 ZFHX3 C>T	16	72828024	72828024	C	T	ZFHX3	c.8557G>A	NM_006885.4	NP_008816.3:p.(Ala2853Thr)	NC_000016.9:g.72828024C>T	(Likely) benign	1 lab	da84730eef
X:115304285 AGTR2 G>A	X	115304285	115304285	G	A	AGTR2	c.752G>A	NM_000686.5	NP_000677.2:p.(Arg251His)	NC_000023.10:g.115304285G>A	(Likely) benign	1 lab	da84b1f457
16:30750444 SRCAP A>G	16	30750444	30750444	A	G	SRCAP	c.9083A>G	NM_006662.3	NP_006653.2:p.(Asp3028Gly)	NC_000016.9:g.30750444A>G	(Likely) benign	1 lab	da8800a9e0
12:121426784 HNF1A C>T	12	121426784	121426784	C	T	HNF1A	c.475C>T	NM_000545.8	NP_000536.6:p.(Arg159Trp)	NC_000012.11:g.121426784C>T	(Likely) pathogenic	1 lab	da88b4ebdc
16:71986816 PKD1L3 G>A	16	71986816	71986816	G	A	PKD1L3	c.2986C>T	NM_181536.2	NP_853514.1:p.(Leu996Phe)	NC_000016.9:g.71986816G>A	VUS	1 lab	da89d08e5a
21:47551930 COL6A2 G>A	21	47551930	47551930	G	A	COL6A2	c.2524G>A	NM_001849.4	NP_001840.3:p.(Glu842Lys)	NC_000021.8:g.47551930G>A	(Likely) benign	1 lab	da8a49c97a
2:215657007 BARD1 G>C	2	215657007	215657007	G	C	BARD1	c.364+14C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657007G>C	(Likely) benign	1 lab	da8c8d2560
12:20522774 PDE3A C>T	12	20522774	20522774	C	T	PDE3A	c.556C>T	NM_000921.5	NP_000912.3:p.(Leu186Phe)	NC_000012.11:g.20522774C>T	(Likely) benign	1 lab	da8c8ed48c
9:117052534 COL27A1 G>A	9	117052534	117052534	G	A	COL27A1	c.4291G>A	NM_032888.4	NP_116277.2:p.(Val1431Met)	NC_000009.11:g.117052534G>A	VUS	1 lab	da8d7b265a
7:100276108 GNB2 A>G	7	100276108	100276108	A	G	GNB2	c.787A>G	NM_005273.4	NP_005264.2:p.(Met263Val)	NC_000007.13:g.100276108A>G	(Likely) benign	1 lab	da8d85194d
4:183710445 TENM3 G>A	4	183710445	183710445	G	A	TENM3	c.5504G>A	NM_001080477.4	NP_001073946.1:p.(Gly1835Asp)	NC_000004.11:g.183710445G>A	VUS	1 lab	da8f65d1e9
3:50334633 NAA80 T>C	3	50334633	50334633	T	C	NAA80	c.262A>G	NM_001200016.2	NP_001186945.1:p.(Thr88Ala)	NC_000003.11:g.50334633T>C	VUS	1 lab	da8f69acbd
12:56495414 ERBB3 C>T	12	56495414	56495414	C	T	ERBB3	c.3604C>T	NM_001982.4	NP_001973.2:p.(Arg1202Trp)	NC_000012.11:g.56495414C>T	VUS	1 lab	da8fd669ec
20:37182727 RALGAPB T>C	20	37182727	37182727	T	C	RALGAPB	c.3372+8T>C	NM_020336.4	NP_065069.1:p.?	NC_000020.10:g.37182727T>C	(Likely) benign	1 lab	da907d57a6
5:60822179 ZSWIM6 G>A	5	60822179	60822179	G	A	ZSWIM6	c.1793G>A	NM_020928.2	NP_065979.1:p.(Arg598Gln)	NC_000005.9:g.60822179G>A	VUS	1 lab	da90c2df5e
7:91871458 KRIT1 A>G	7	91871458	91871458	A	G	KRIT1	c.-2-7T>C	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91871458A>G	(Likely) benign	1 lab	da91c232b1
6:32149140 AGER C>T	6	32149140	32149140	C	T	AGER	c.1106G>A	NM_001136.5	NP_001127.1:p.(Arg369Gln)	NC_000006.11:g.32149140C>T	(Likely) benign	1 lab	da921fa4e3
3:39153953 TTC21A A>G	3	39153953	39153953	A	G	TTC21A	c.440A>G	NM_001366900.1	NP_001353829.1:p.(Tyr147Cys)	NC_000003.11:g.39153953A>G	(Likely) benign	1 lab	da93456381
3:193361805 OPA1 G>A	3	193361805	193361805	G	A	OPA1	c.1519G>A	NM_130837.3	NP_570850.2:p.(Val507Ile)	NC_000003.11:g.193361805G>A	VUS	1 lab	da9364125a
22:51160616 SHANK3 C>G	22	51160616	51160616	C	G	SHANK3	c.4580C>G	NM_001372044.2	NP_001358973.1:p.(Ala1527Gly)	NC_000022.10:g.51160616C>G	VUS	1 lab	da945e1c28
X:76814137 ATRX T>C	X	76814137	76814137	T	C	ATRX	c.6504+3A>G	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76814137T>C	VUS	1 lab	da94716814
2:152474001 NEB A>AAG	2	152474001	152474018	A	AAG	NEB	c.11077-21_11077-20dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474017_152474018dup	VUS	1 lab	da95392d34
16:7568258 RBFOX1 C>A	16	7568258	7568258	C	A	RBFOX1	c.137C>A	NM_018723.4	NP_061193.2:p.(Pro46His)	NC_000016.9:g.7568258C>A	(Likely) benign	1 lab	da977b19b2
2:33572560 LTBP1 G>A	2	33572560	33572560	G	A	LTBP1	c.3983G>A	NM_206943.4	NP_996826.3:p.(Arg1328His)	NC_000002.11:g.33572560G>A	VUS	1 lab	da978d98e6
2:179604638 TTN CA>C	2	179604638	179604639	CA	C	TTN	c.13321del	NM_001267550.2	NP_001254479.2:p.(Cys4441AlafsTer11)	NC_000002.11:g.179604639del	(Likely) pathogenic	1 lab	da98cddea2
X:19507086 MAP3K15 C>G	X	19507086	19507086	C	G	MAP3K15	c.362-1G>C	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19507086C>G	VUS	1 lab	da9a800136
15:43020398 CDAN1 G>A	15	43020398	43020398	G	A	CDAN1	c.2868+4C>T	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43020398G>A	VUS	1 lab	da9ac72b27
12:13716187 GRIN2B G>C	12	13716187	13716187	G	C	GRIN2B	c.3985C>G	NM_000834.5	NP_000825.2:p.(Arg1329Gly)	NC_000012.11:g.13716187G>C	VUS	1 lab	2c6b8f275b
6:56485517 DST C>T	6	56485517	56485517	C	T	DST	c.4929+3811G>A	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56485517C>T	(Likely) benign	1 lab	da9ced096c
19:15299833 NOTCH3 G>A	19	15299833	15299833	G	A	NOTCH3	c.1345C>T	NM_000435.3	NP_000426.2:p.(Arg449Cys)	NC_000019.9:g.15299833G>A	(Likely) pathogenic	1 lab	da9d184b80
3:48607943 COL7A1 A>T	3	48607943	48607943	A	T	COL7A1	c.7345-10T>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48607943A>T	VUS	1 lab	2c6c075574
2:166179718 SCN2A C>T	2	166179718	166179718	C	T	SCN2A	c.1724C>T	NM_001040142.2	NP_001035232.1:p.(Ala575Val)	NC_000002.11:g.166179718C>T	VUS	1 lab	da9ead3905
14:79181096 NRXN3 C>A	14	79181096	79181096	C	A	NRXN3	c.1661-3C>A	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79181096C>A	(Likely) benign	1 lab	da9fc9784e
17:73746317 ITGB4 C>G	17	73746317	73746317	C	G	ITGB4	c.3442C>G	NM_000213.5	NP_000204.3:p.(Leu1148Val)	NC_000017.10:g.73746317C>G	(Likely) benign	1 lab	da9ffffaff
11:74952733 TPBGL C>G	11	74952733	74952733	C	G	TPBGL	c.639C>G	NM_001195528.2	NP_001182457.1:p.(Asp213Glu)	NC_000011.9:g.74952733C>G	(Likely) benign	1 lab	daa0ad4994
2:11742668 GREB1 G>C	2	11742668	11742668	G	C	GREB1	c.2666G>C	NM_014668.4	NP_055483.2:p.(Arg889Thr)	NC_000002.11:g.11742668G>C	VUS	1 lab	daa37d1f8c
4:114275608 ANK2 C>T	4	114275608	114275608	C	T	ANK2	c.5834C>T	NM_001148.6	NP_001139.3:p.(Thr1945Met)	NC_000004.11:g.114275608C>T	(Likely) benign	1 lab	daa55cf4de
7:288342 FAM20C A>G	7	288342	288342	A	G	FAM20C	c.1018A>G	NM_020223.4	NP_064608.2:p.(Ile340Val)	NC_000007.13:g.288342A>G	VUS	1 lab	daa56c6063
X:63410507 AMER1 A>G	X	63410507	63410507	A	G	AMER1	c.2660T>C	NM_152424.4	NP_689637.3:p.(Met887Thr)	NC_000023.10:g.63410507A>G	(Likely) benign	1 lab	daa677f31c
9:79973337 VPS13A C>T	9	79973337	79973337	C	T	VPS13A	c.8018C>T	NM_033305.3	NP_150648.2:p.(Ser2673Leu)	NC_000009.11:g.79973337C>T	VUS	1 lab	daa75f0a4d
10:112350745 SMC3 T>C	10	112350745	112350745	T	C	SMC3	c.1671-4T>C	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112350745T>C	(Likely) benign	1 lab	daa8a6b39d
15:28419695 HERC2 T>C	15	28419695	28419695	T	C	HERC2	c.9903A>G	NM_004667.6	NP_004658.3:p.(Thr3301=)	NC_000015.9:g.28419695T>C	(Likely) benign	1 lab	daa9e16f49
7:92730825 SAMD9 C>T	7	92730825	92730825	C	T	SAMD9	c.4586G>A	NM_017654.4	NP_060124.2:p.(Arg1529His)	NC_000007.13:g.92730825C>T	(Likely) benign	1 lab	daab90c930
X:70387053 NLGN3 G>A	X	70387053	70387053	G	A	NLGN3	c.1046G>A	NM_018977.4	NP_061850.2:p.(Arg349His)	NC_000023.10:g.70387053G>A	VUS	1 lab	2c6f57d815
1:231954113 DISC1 AT>A	1	231954113	231954115	AT	A	DISC1	c.1833del	NM_018662.3	NP_061132.2:p.(Arg612AspfsTer3)	NC_000001.10:g.231954115del	VUS	1 lab	daac32d918
20:61453161 COL9A3 C>G	20	61453161	61453161	C	G	COL9A3	c.422C>G	NM_001853.4	NP_001844.3:p.(Pro141Arg)	NC_000020.10:g.61453161C>G	VUS	1 lab	daacd5eea8
4:6303072 WFS1 G>C	4	6303072	6303072	G	C	WFS1	c.1550G>C	NM_006005.3	NP_005996.2:p.(Arg517Pro)	NC_000004.11:g.6303072G>C	VUS	1 lab	daae1e092b
4:77660018 SHROOM3 C>T	4	77660018	77660018	C	T	SHROOM3	c.692C>T	NM_020859.4	NP_065910.3:p.(Ala231Val)	NC_000004.11:g.77660018C>T	(Likely) benign	1 lab	dab0009302
13:73409515 PIBF1 A>ATAT	13	73409515	73409516	A	ATAT	PIBF1	c.1223+9_1223+10insTAT	NM_006346.4	NP_006337.2:p.?	NC_000013.10:g.73409515_73409516insTAT	(Likely) benign	1 lab	dab08d61f7
19:16987351 SIN3B A>G	19	16987351	16987351	A	G	SIN3B	c.2821A>G	NM_001297595.2	NP_001284524.1:p.(Thr941Ala)	NC_000019.9:g.16987351A>G	VUS	1 lab	dab105e289
2:170070158 LRP2 A>G	2	170070158	170070158	A	G	LRP2	c.6040+9T>C	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170070158A>G	(Likely) benign	1 lab	dab28925a3
11:119058835 NHERF4 G>C	11	119058835	119058835	G	C	NHERF4	c.844G>C	NM_001168468.2	NP_001161940.1:p.(Gly282Arg)	NC_000011.9:g.119058835G>C	VUS	1 lab	dab4237e83
6:29080041 OR2J3 G>A	6	29080041	29080041	G	A	OR2J3	c.374G>A	NM_001005216.4	NP_001005216.2:p.(Arg125His)	NC_000006.11:g.29080041G>A	(Likely) benign	1 lab	dab7186d95
2:170668990 METTL5 A>G	2	170668990	170668990	A	G	METTL5	c.568T>C	NM_014168.4	NP_054887.2:p.(Tyr190His)	NC_000002.11:g.170668990A>G	VUS	1 lab	dab7c33323
3:62860537 CADPS T>TCCGGCG	3	62860537	62860552	T	TCCGGCG	CADPS	c.162_167dup	NM_003716.4	NP_003707.2:p.(Ala57_Gly58dup)	NC_000003.11:g.62860547_62860552dup	VUS	1 lab	dab8cf9e19
16:30727465 SRCAP C>T	16	30727465	30727465	C	T	SRCAP	c.2572C>T	NM_006662.3	NP_006653.2:p.(Arg858Cys)	NC_000016.9:g.30727465C>T	(Likely) benign	1 lab	dab901d45b
5:92923922 NR2F1 A>G	5	92923922	92923922	A	G	NR2F1	c.763A>G	NM_005654.6	NP_005645.1:p.(Thr255Ala)	NC_000005.9:g.92923922A>G	VUS	1 lab	dba90193ea
16:88925057 TRAPPC2L A>G	16	88925057	88925057	A	G	TRAPPC2L	c.64A>G	NM_001318525.2	NP_001305454.1:p.(Thr22Ala)	NC_000016.9:g.88925057A>G	(Likely) benign	1 lab	dab9073710
12:116446628 MED13L G>A	12	116446628	116446628	G	A	MED13L	c.1590C>T	NM_015335.5	NP_056150.1:p.(Ala530=)	NC_000012.11:g.116446628G>A	(Likely) benign	1 lab	dab93b1594
3:129290035 PLXND1 C>A	3	129290035	129290035	C	A	PLXND1	c.3448G>T	NM_015103.3	NP_055918.3:p.(Val1150Leu)	NC_000003.11:g.129290035C>A	(Likely) benign	1 lab	daba6362a0
16:2158801 PKD1 G>A	16	2158801	2158801	G	A	PKD1	c.6367C>T	NM_001009944.3	NP_001009944.3:p.(Gln2123Ter)	NC_000016.9:g.2158801G>A	(Likely) pathogenic	1 lab	dabab9589b
19:15303324 NOTCH3 C>T	19	15303324	15303324	C	T	NOTCH3	c.204G>A	NM_000435.3	NP_000426.2:p.(Pro68=)	NC_000019.9:g.15303324C>T	VUS	1 lab	dabb831001
15:57565447 TCF12 A>G	15	57565447	57565447	A	G	TCF12	c.1965A>G	NM_207037.2	NP_996920.1:p.(Glu655=)	NC_000015.9:g.57565447A>G	(Likely) benign	1 lab	dabbb4f090
12:52309077 ACVRL1 G>C	12	52309077	52309077	G	C	ACVRL1	c.841G>C	NM_000020.3	NP_000011.2:p.(Glu281Gln)	NC_000012.11:g.52309077G>C	VUS	1 lab	dabc3cbfd1
5:177034442 B4GALT7 G>A	5	177034442	177034442	G	A	B4GALT7	c.553G>A	NM_007255.3	NP_009186.1:p.(Val185Met)	NC_000005.9:g.177034442G>A	VUS	1 lab	dac0ecc347
15:74486266 STRA6 GGACA>G	15	74486266	74486274	GGACA	G	STRA6	c.598-7_598-4del	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74486271_74486274del	VUS	1 lab	dac2635f40
7:101845344 CUX1 A>C	7	101845344	101845344	A	C	CUX1	c.2767A>C	NM_181552.4	NP_853530.2:p.(Thr923Pro)	NC_000007.13:g.101845344A>C	(Likely) benign	1 lab	dac3fc842b
11:72091390 CLPB T>C	11	72091390	72091390	T	C	CLPB	c.581A>G	NM_001258392.3	NP_001245321.1:p.(Asn194Ser)	NC_000011.9:g.72091390T>C	VUS	1 lab	dac4f51026
16:28331938 SBK1 G>C	16	28331938	28331938	G	C	SBK1	c.971G>C	NM_001024401.3	NP_001019572.1:p.(Arg324Pro)	NC_000016.9:g.28331938G>C	VUS	1 lab	dac680f7ec
20:31024809 ASXL1 TC>T	20	31024809	31024812	TC	T	ASXL1	c.4297del	NM_015338.6	NP_056153.2:p.(Gln1433AsnfsTer17)	NC_000020.10:g.31024812del	VUS	1 lab	dac739fee1
12:49420247 KMT2D T>C	12	49420247	49420247	T	C	KMT2D	c.15502A>G	NM_003482.4	NP_003473.3:p.(Ile5168Val)	NC_000012.11:g.49420247T>C	(Likely) benign	1 lab	dac824c6ec
1:176661303 PAPPA2 C>T	1	176661303	176661303	C	T	PAPPA2	c.2473C>T	NM_020318.3	NP_064714.2:p.(Arg825Ter)	NC_000001.10:g.176661303C>T	(Likely) pathogenic	1 lab	dac89d8815
9:124074713 GSN C>A	9	124074713	124074713	C	A	GSN	c.610C>A	NM_198252.3	NP_937895.1:p.(Arg204=)	NC_000009.11:g.124074713C>A	(Likely) benign	1 lab	dac89ea3ad
3:18458556 SATB1 C>G	3	18458556	18458556	C	G	SATB1	c.226G>C	NM_002971.6	NP_002962.1:p.(Val76Leu)	NC_000003.11:g.18458556C>G	VUS	1 lab	dac8f84afb
19:15288859 NOTCH3 G>A	19	15288859	15288859	G	A	NOTCH3	c.3880C>T	NM_000435.3	NP_000426.2:p.(Arg1294Trp)	NC_000019.9:g.15288859G>A	VUS	1 lab	dac91fdce0
9:134395512 POMT1 A>C	9	134395512	134395512	A	C	POMT1	c.1630A>C	NM_001077365.2	NP_001070833.1:p.(Ser544Arg)	NC_000009.11:g.134395512A>C	VUS	1 lab	dac994f2fb
17:61995213 GH1 A>T	17	61995213	61995213	A	T	GH1	c.363T>A	NM_000515.5	NP_000506.2:p.(Ser121Arg)	NC_000017.10:g.61995213A>T	(Likely) benign	1 lab	daca69d950
10:88466381 LDB3 T>A	10	88466381	88466381	T	A	LDB3	c.990T>A	NM_007078.3	NP_009009.1:p.(Ser330Arg)	NC_000010.10:g.88466381T>A	VUS	1 lab	dacbd68f76
1:1178448 C1QTNF12 C>T	1	1178448	1178448	C	T	C1QTNF12	c.725G>A	NM_001014980.3	NP_001014980.1:p.(Arg242His)	NC_000001.10:g.1178448C>T	VUS	1 lab	dad1c3f3fd
13:110839584 COL4A1 T>G	13	110839584	110839584	T	G	COL4A1	c.1629A>C	NM_001845.6	NP_001836.3:p.(Lys543Asn)	NC_000013.10:g.110839584T>G	VUS	1 lab	dad3f64446
22:50662846 TUBGCP6 C>T	22	50662846	50662846	C	T	TUBGCP6	c.2069G>A	NM_020461.4	NP_065194.3:p.(Arg690Gln)	NC_000022.10:g.50662846C>T	VUS	1 lab	dad44ae8a8
17:42925608 HIGD1B C>T	17	42925608	42925608	C	T	HIGD1B	c.88C>T	NM_016438.4	NP_057522.1:p.(Leu30=)	NC_000017.10:g.42925608C>T	(Likely) benign	1 lab	dad6ac93b2
5:54941710 SLC38A9 C>G	5	54941710	54941710	C	G	SLC38A9	c.1074G>C	NM_173514.4	NP_775785.2:p.(Gln358His)	NC_000005.9:g.54941710C>G	(Likely) benign	1 lab	dad8143da4
15:101717680 CHSY1 G>T	15	101717680	101717680	G	T	CHSY1	c.2322C>A	NM_014918.5	NP_055733.2:p.(Thr774=)	NC_000015.9:g.101717680G>T	(Likely) benign	1 lab	2c7397e014
12:8612294 CLEC6A G>C	12	8612294	8612294	G	C	CLEC6A	c.223G>C	NM_001007033.2	NP_001007034.1:p.(Ala75Pro)	NC_000012.11:g.8612294G>C	(Likely) benign	1 lab	dad96367d1
16:339492 AXIN1 C>T	16	339492	339492	C	T	AXIN1	c.2410G>A	NM_003502.4	NP_003493.1:p.(Ala804Thr)	NC_000016.9:g.339492C>T	(Likely) benign	1 lab	dadafc05c0
19:15636205 CYP4F22 C>CG	19	15636205	15636206	C	CG	CYP4F22	c.59dup	NM_173483.4	NP_775754.2:p.(Ile21HisfsTer59)	NC_000019.9:g.15636206dup	(Likely) pathogenic	1 lab	dadfccd17b
8:27168716 TRIM35 G>T	8	27168716	27168716	G	T	TRIM35	c.37C>A	NM_171982.5	NP_741983.2:p.(Arg13Ser)	NC_000008.10:g.27168716G>T	VUS	1 lab	dae000c9a7
8:144658270 NAPRT G>A	8	144658270	144658270	G	A	NAPRT	c.1085C>T	NM_145201.6	NP_660202.3:p.(Ala362Val)	NC_000008.10:g.144658270G>A	VUS	1 lab	dae34f0d26
4:103681946 MANBA C>T	4	103681946	103681946	C	T	MANBA	c.106G>A	NM_005908.4	NP_005899.3:p.(Gly36Ser)	NC_000004.11:g.103681946C>T	VUS	1 lab	dae511a279
22:25627668 CRYBB2 C>A	22	25627668	25627668	C	A	CRYBB2	c.547C>A	NM_000496.3	NP_000487.1:p.(Gln183Lys)	NC_000022.10:g.25627668C>A	VUS	1 lab	dae514b9ed
10:12142263 DHTKD1 T>G	10	12142263	12142263	T	G	DHTKD1	c.1756+2T>G	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142263T>G	VUS	1 lab	dae567fe11
11:61096858 DDB1 G>A	11	61096858	61096858	G	A	DDB1	c.526C>T	NM_001923.5	NP_001914.3:p.(Pro176Ser)	NC_000011.9:g.61096858G>A	VUS	1 lab	dae6511db7
6:35212592 SCUBE3 C>T	6	35212592	35212592	C	T	SCUBE3	c.2401+4C>T	NM_152753.4	NP_689966.2:p.?	NC_000006.11:g.35212592C>T	(Likely) benign	1 lab	dae811c59f
1:224621894 WDR26 C>A	1	224621894	224621894	C	A	WDR26	c.214G>T	NM_001379403.1	NP_001366332.1:p.(Val72Leu)	NC_000001.10:g.224621894C>A	VUS	1 lab	dae833849d
2:240002886 HDAC4 C>A	2	240002886	240002886	C	A	HDAC4	c.2655G>T	NM_001378414.1	NP_001365343.1:p.(Val885=)	NC_000002.11:g.240002886C>A	(Likely) benign	1 lab	dae8e22b42
17:79893355 PYCR1 G>A	17	79893355	79893355	G	A	PYCR1	c.176C>T	NM_006907.4	NP_008838.2:p.(Thr59Met)	NC_000017.10:g.79893355G>A	VUS	1 lab	dae99c9e03
2:20151204 WDR35 C>T	2	20151204	20151204	C	T	WDR35	c.1442G>A	NM_020779.4	NP_065830.2:p.(Gly481Asp)	NC_000002.11:g.20151204C>T	VUS	1 lab	daeb9c1a83
2:241928286 CROCC2 A>G	2	241928286	241928286	A	G	CROCC2	c.4682A>G	NM_001351305.2	NP_001338234.1:p.(Gln1561Arg)	NC_000002.11:g.241928286A>G	VUS	1 lab	daed801d10
2:220370757 GMPPA T>C	2	220370757	220370757	T	C	GMPPA	c.956T>C	NM_013335.4	NP_037467.2:p.(Leu319Pro)	NC_000002.11:g.220370757T>C	VUS	1 lab	daeed78519
1:115215866 AMPD1 A>G	1	115215866	115215866	A	G	AMPD1	c.2113T>C	NM_000036.3	NP_000027.3:p.(Tyr705His)	NC_000001.10:g.115215866A>G	VUS	1 lab	daf036646e
8:145535887 HSF1 A>C	8	145535887	145535887	A	C	HSF1	c.1099A>C	NM_005526.4	NP_005517.1:p.(Thr367Pro)	NC_000008.10:g.145535887A>C	(Likely) benign	1 lab	daf20fb231
16:72832031 ZFHX3 G>A	16	72832031	72832031	G	A	ZFHX3	c.4550C>T	NM_006885.4	NP_008816.3:p.(Ser1517Leu)	NC_000016.9:g.72832031G>A	VUS	1 lab	daf2887574
16:1250806 CACNA1H A>G	16	1250806	1250806	A	G	CACNA1H	c.1210A>G	NM_021098.3	NP_066921.2:p.(Ile404Val)	NC_000016.9:g.1250806A>G	VUS	1 lab	daf2a5f6c2
19:42799323 CIC A>C	19	42799323	42799323	A	C	CIC	c.7534A>C	NM_001386298.1	NP_001373227.1:p.(Thr2512Pro)	NC_000019.9:g.42799323A>C	VUS	1 lab	daf4008144
6:16327262 ATXN1 G>A	6	16327262	16327262	G	A	ATXN1	c.1280C>T	NM_001128164.2	NP_001121636.1:p.(Ala427Val)	NC_000006.11:g.16327262G>A	(Likely) benign	1 lab	daf43d2da7
1:22170745 HSPG2 C>G	1	22170745	22170745	C	G	HSPG2	c.8512G>C	NM_005529.7	NP_005520.4:p.(Val2838Leu)	NC_000001.10:g.22170745C>G	VUS	1 lab	daf44be5d7
1:15772113 CTRC A>T	1	15772113	15772113	A	T	CTRC	c.661A>T	NM_007272.3	NP_009203.2:p.(Asn221Tyr)	NC_000001.10:g.15772113A>T	VUS	1 lab	daf567c42b
5:126145881 LMNB1 G>A	5	126145881	126145881	G	A	LMNB1	c.652G>A	NM_005573.4	NP_005564.1:p.(Glu218Lys)	NC_000005.9:g.126145881G>A	VUS	1 lab	daf5912506
17:57140009 TRIM37 G>C	17	57140009	57140009	G	C	TRIM37	c.861C>G	NM_015294.6	NP_056109.1:p.(Ser287Arg)	NC_000017.10:g.57140009G>C	(Likely) benign	1 lab	daf5fc5792
11:640099 DRD4 A>C	11	640099	640099	A	C	DRD4	c.850A>C	NM_000797.4	NP_000788.2:p.(Ser284Arg)	NC_000011.9:g.640099A>C	(Likely) benign	1 lab	daf68c2bc6
7:1527531 INTS1 C>T	7	1527531	1527531	C	T	INTS1	c.2381G>A	NM_001080453.3	NP_001073922.2:p.(Arg794His)	NC_000007.13:g.1527531C>T	VUS	1 lab	daf79e6679
4:79188027 FRAS1 A>G	4	79188027	79188027	A	G	FRAS1	c.727A>G	NM_025074.7	NP_079350.5:p.(Ile243Val)	NC_000004.11:g.79188027A>G	(Likely) benign	1 lab	daf7a2ef37
14:23869920 MYH6 C>A	14	23869920	23869920	C	A	MYH6	c.1408G>T	NM_002471.4	NP_002462.2:p.(Asp470Tyr)	NC_000014.8:g.23869920C>A	VUS	1 lab	dafb7e137e
2:233396298 CHRND T>A	2	233396298	233396298	T	A	CHRND	c.979T>A	NM_000751.3	NP_000742.1:p.(Cys327Ser)	NC_000002.11:g.233396298T>A	(Likely) benign	1 lab	dafbe0c83f
4:77677894 SHROOM3 A>G	4	77677894	77677894	A	G	SHROOM3	c.5002A>G	NM_020859.4	NP_065910.3:p.(Thr1668Ala)	NC_000004.11:g.77677894A>G	(Likely) benign	1 lab	dafc1ba983
7:12417503 VWDE T>C	7	12417503	12417503	T	C	VWDE	c.923A>G	NM_001135924.3	NP_001129396.1:p.(Tyr308Cys)	NC_000007.13:g.12417503T>C	(Likely) benign	1 lab	dafc2aac99
X:50054170 CCNB3 G>C	X	50054170	50054170	G	C	CCNB3	c.3001G>C	NM_033031.3	NP_149020.2:p.(Gly1001Arg)	NC_000023.10:g.50054170G>C	(Likely) benign	1 lab	dafd7cbefd
2:179583262 TTN C>T	2	179583262	179583262	C	T	TTN	c.24571G>A	NM_001267550.2	NP_001254479.2:p.(Glu8191Lys)	NC_000002.11:g.179583262C>T	VUS	1 lab	2c7e1e7737
18:20602093 RBBP8 A>T	18	20602093	20602093	A	T	RBBP8	c.2456A>T	NM_002894.3	NP_002885.1:p.(Tyr819Phe)	NC_000018.9:g.20602093A>T	VUS	1 lab	dafee3461a
6:121433661 TBC1D32 A>G	6	121433661	121433661	A	G	TBC1D32	c.3314T>C	NM_152730.6	NP_689943.4:p.(Leu1105Pro)	NC_000006.11:g.121433661A>G	VUS	1 lab	db00c069c0
2:121745982 GLI2 C>T	2	121745982	121745982	C	T	GLI2	c.2441C>T	NM_001374353.1	NP_001361282.1:p.(Ser814Phe)	NC_000002.11:g.121745982C>T	VUS	1 lab	db019c6037
3:27758811 EOMES T>G	3	27758811	27758811	T	G	EOMES	c.1868A>C	NM_001278182.2	NP_001265111.1:p.(Gln623Pro)	NC_000003.11:g.27758811T>G	VUS	1 lab	db0365ac67
16:1567852 IFT140 C>T	16	1567852	1567852	C	T	IFT140	c.4182+365G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1567852C>T	(Likely) benign	1 lab	db05bff2c1
11:65108965 DPF2 G>A	11	65108965	65108965	G	A	DPF2	c.397G>A	NM_006268.5	NP_006259.1:p.(Ala133Thr)	NC_000011.9:g.65108965G>A	(Likely) benign	1 lab	db06669cc4
14:99642254 BCL11B C>A	14	99642254	99642254	C	A	BCL11B	c.919G>T	NM_138576.4	NP_612808.1:p.(Glu307Ter)	NC_000014.8:g.99642254C>A	(Likely) benign	1 lab	db067e1de3
22:42609878 TCF20 G>A	22	42609878	42609878	G	A	TCF20	c.1434C>T	NM_001378418.1	NP_001365347.1:p.(Ala478=)	NC_000022.10:g.42609878G>A	(Likely) benign	1 lab	db06a26550
3:126707619 PLXNA1 C>T	3	126707619	126707619	C	T	PLXNA1	c.183C>T	NM_032242.4	NP_115618.3:p.(Gly61=)	NC_000003.11:g.126707619C>T	(Likely) benign	1 lab	db0a2738d1
16:2079704 NHERF2 T>TGCC	16	2079704	2079705	T	TGCC	NHERF2	c.335_336insGCC	NM_001130012.3	NP_001123484.1:p.(Pro114dup)	NC_000016.9:g.2079704_2079705insGCC	(Likely) benign	1 lab	db0aa3b2ca
8:37594198 ERLIN2 T>C	8	37594198	37594198	T	C	ERLIN2	c.-16+2T>C	NM_007175.8	NP_009106.1:p.?	NC_000008.10:g.37594198T>C	VUS	1 lab	db0ae7cad2
10:99125924 RRP12 C>T	10	99125924	99125924	C	T	RRP12	c.3458G>A	NM_015179.4	NP_055994.2:p.(Arg1153Gln)	NC_000010.10:g.99125924C>T	(Likely) benign	1 lab	db0aee8b52
8:74893387 TMEM70 TAGG>T	8	74893387	74893390	TAGG	T	TMEM70	c.317-2_317del	NM_017866.6	NP_060336.3:p.?	NC_000008.10:g.74893388_74893390del	(Likely) benign	1 lab	db0b599832
17:41256074 BRCA1 CA>C	17	41256074	41256086	CA	C	BRCA1	c.441+64del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256086del	(Likely) benign	1 lab	2e74196962
11:67378982 NDUFV1 C>T	11	67378982	67378982	C	T	NDUFV1	c.1022C>T	NM_007103.4	NP_009034.2:p.(Ala341Val)	NC_000011.9:g.67378982C>T	(Likely) pathogenic	1 lab	db0d04d9d2
7:42079802 GLI3 G>A	7	42079802	42079802	G	A	GLI3	c.863C>T	NM_000168.6	NP_000159.3:p.(Pro288Leu)	NC_000007.13:g.42079802G>A	(Likely) benign	1 lab	db0d47e4e7
22:41543867 EP300 A>G	22	41543867	41543867	A	G	EP300	c.2158A>G	NM_001429.4	NP_001420.2:p.(Met720Val)	NC_000022.10:g.41543867A>G	(Likely) benign	1 lab	db0d8b1f25
X:105912534 RADX G>A	X	105912534	105912534	G	A	RADX	c.2411G>A	NM_018015.6	NP_060485.4:p.(Arg804Gln)	NC_000023.10:g.105912534G>A	VUS	1 lab	db0ef05042
1:43885414 SZT2 G>A	1	43885414	43885414	G	A	SZT2	c.889G>A	NM_001365999.1	NP_001352928.1:p.(Val297Ile)	NC_000001.10:g.43885414G>A	VUS	1 lab	db104d2a8c
17:78064113 CCDC40 ACAC>A	17	78064113	78064116	ACAC	A	CCDC40	c.2832+431_2832+433del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064114_78064116del	VUS	1 lab	db1092356d
11:46890166 LRP4 G>A	11	46890166	46890166	G	A	LRP4	c.4936C>T	NM_002334.4	NP_002325.2:p.(Arg1646Trp)	NC_000011.9:g.46890166G>A	VUS	1 lab	db10f43ee3
16:75669907 KARS1 G>A	16	75669907	75669907	G	A	KARS1	c.572C>T	NM_005548.3	NP_005539.1:p.(Thr191Ile)	NC_000016.9:g.75669907G>A	VUS	1 lab	db1125b3ac
3:48618325 COL7A1 C>T	3	48618325	48618325	C	T	COL7A1	c.4970G>A	NM_000094.4	NP_000085.1:p.(Arg1657His)	NC_000003.11:g.48618325C>T	VUS	1 lab	db116aef83
16:88871316 CDT1 G>C	16	88871316	88871316	G	C	CDT1	c.488+10G>C	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88871316G>C	(Likely) benign	1 lab	db1218c1e3
2:220355342 SPEG C>T	2	220355342	220355342	C	T	SPEG	c.9133C>T	NM_005876.5	NP_005867.3:p.(Arg3045Trp)	NC_000002.11:g.220355342C>T	VUS	1 lab	db1239b3a2
8:11566302 GATA4 C>A	8	11566302	11566302	C	A	GATA4	c.481C>A	NM_001308093.3	NP_001295022.1:p.(Pro161Thr)	NC_000008.10:g.11566302C>A	VUS	1 lab	db12a46f3e
19:18280053 PIK3R2 GGCGCACCCAGT>G	19	18280053	18280068	GGCGCACCCAGT	G	PIK3R2	c.2141_2151del	NM_005027.4	NP_005018.2:p.(His714ArgfsTer93)	NC_000019.9:g.18280058_18280068del	VUS	1 lab	db149a68c4
6:149678566 TAB2 A>C	6	149678566	149678566	A	C	TAB2	c.-89-12479A>C	NM_001292034.3	NP_001278963.1:p.?	NC_000006.11:g.149678566A>C	(Likely) benign	1 lab	db15219418
7:44189634 GCK G>C	7	44189634	44189634	G	C	GCK	c.513C>G	NM_000162.5	NP_000153.1:p.(Phe171Leu)	NC_000007.13:g.44189634G>C	(Likely) pathogenic	1 lab	db15d9a8fe
16:2816755 SRRM2 C>T	16	2816755	2816755	C	T	SRRM2	c.6226C>T	NM_016333.4	NP_057417.3:p.(Arg2076Cys)	NC_000016.9:g.2816755C>T	VUS	1 lab	db17edfb8a
20:57415700 GNAS-AS1 C>T	20	57415700	57415700	C	T	GNAS-AS1	n.672+1292G>A	NR_185847.1		NC_000020.10:g.57415700C>T	VUS	1 lab	db19fd3991
11:103090641 DYNC2H1 T>C	11	103090641	103090641	T	C	DYNC2H1	c.8833-3T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103090641T>C	(Likely) benign	1 lab	db1a640f51
X:73964259 NEXMIF C>T	X	73964259	73964259	C	T	NEXMIF	c.133G>A	NM_001008537.3	NP_001008537.1:p.(Ala45Thr)	NC_000023.10:g.73964259C>T	(Likely) benign	1 lab	2e75882aaf
6:42044856 TAF8 AAGG>A	6	42044856	42044861	AAGG	A	TAF8	c.802_804del	NM_138572.3	NP_612639.2:p.(Glu268del)	NC_000006.11:g.42044859_42044861del	VUS	1 lab	db1f02b8b4
7:101821879 CUX1 C>T	7	101821879	101821879	C	T	CUX1	c.959C>T	NM_181552.4	NP_853530.2:p.(Ser320Leu)	NC_000007.13:g.101821879C>T	VUS	1 lab	db1f682c62
5:850637 ZDHHC11 GC>G	5	850637	850638	GC	G	ZDHHC11	c.80del	NM_024786.3	NP_079062.1:p.(Arg27ProfsTer5)	NC_000005.9:g.850638del	VUS	1 lab	db1ffffa55
5:34937546 DNAJC21 A>G	5	34937546	34937546	A	G	DNAJC21	c.554A>G	NM_001012339.3	NP_001012339.2:p.(Glu185Gly)	NC_000005.9:g.34937546A>G	VUS	1 lab	db217f64eb
6:1611239 FOXC1 G>A	6	1611239	1611239	G	A	FOXC1	c.559G>A	NM_001453.3	NP_001444.2:p.(Asp187Asn)	NC_000006.11:g.1611239G>A	(Likely) benign	1 lab	db228d7869
20:35526366 SAMHD1 T>G	20	35526366	35526366	T	G	SAMHD1	c.1609-4A>C	NM_015474.4	NP_056289.2:p.?	NC_000020.10:g.35526366T>G	(Likely) benign	1 lab	db24ef3734
1:27121066 PIGV A>T	1	27121066	27121066	A	T	PIGV	c.541A>T	NM_017837.4	NP_060307.2:p.(Met181Leu)	NC_000001.10:g.27121066A>T	VUS	1 lab	db250d2df9
3:43388926 SNRK C>T	3	43388926	43388926	C	T	SNRK	c.1175C>T	NM_017719.5	NP_060189.3:p.(Ala392Val)	NC_000003.11:g.43388926C>T	VUS	1 lab	db2593e363
18:2925253 LPIN2 T>A	18	2925253	2925253	T	A	LPIN2	c.1907A>T	NM_014646.2	NP_055461.1:p.(Lys636Met)	NC_000018.9:g.2925253T>A	VUS	1 lab	da7c27b383
4:88929411 PKD2 C>T	4	88929411	88929411	C	T	PKD2	c.526C>T	NM_000297.4	NP_000288.1:p.(Arg176Cys)	NC_000004.11:g.88929411C>T	VUS	1 lab	db27e93115
X:153881538 CTAG2 G>C	X	153881538	153881538	G	C	CTAG2	c.252C>G	NM_172377.5	NP_758965.2:p.(Asp84Glu)	NC_000023.10:g.153881538G>C	(Likely) benign	1 lab	db2813c8b4
X:71792306 HDAC8 A>G	X	71792306	71792306	A	G	HDAC8	c.111+195T>C	NM_018486.3	NP_060956.1:p.?	NC_000023.10:g.71792306A>G	(Likely) benign	1 lab	db282e7033
12:112623086 HECTD4 C>G	12	112623086	112623086	C	G	HECTD4	c.9684G>C	NM_001388303.1	NP_001375232.1:p.(Gln3228His)	NC_000012.11:g.112623086C>G	VUS	1 lab	db297e55fa
7:2566818 LFNG C>T	7	2566818	2566818	C	T	LFNG	c.1112C>T	NM_001040167.2	NP_001035257.1:p.(Pro371Leu)	NC_000007.13:g.2566818C>T	(Likely) benign	1 lab	db29fe431c
2:71780152 DYSF GA>G	2	71780152	71780153	GA	G	DYSF	c.1819del	NM_001130987.2	NP_001124459.1:p.(Arg607GlyfsTer38)	NC_000002.11:g.71780153del	(Likely) pathogenic	1 lab	db2b0b5261
1:145457586 POLR3GL C>T	1	145457586	145457586	C	T	POLR3GL	c.344G>A	NM_032305.3	NP_115681.1:p.(Arg115Gln)	NC_000001.10:g.145457586C>T	VUS	1 lab	db2d662244
7:48443300 ABCA13 TAACTC>T	7	48443300	48443306	TAACTC	T	ABCA13	c.11896_11900del	NM_152701.5	NP_689914.3:p.(Thr3966AlafsTer34)	NC_000007.13:g.48443302_48443306del	VUS	1 lab	db2db2e74f
16:3778500 CREBBP G>A	16	3778500	3778500	G	A	CREBBP	c.6548C>T	NM_004380.3	NP_004371.2:p.(Ala2183Val)	NC_000016.9:g.3778500G>A	(Likely) benign	1 lab	db2df69638
5:176631130 NSD1 G>A	5	176631130	176631130	G	A	NSD1	c.1073G>A	NM_022455.5	NP_071900.2:p.(Arg358Gln)	NC_000005.9:g.176631130G>A	VUS	1 lab	db2eb91e3a
19:13211521 LYL1 C>T	19	13211521	13211521	C	T	LYL1	c.377G>A	NM_005583.5	NP_005574.2:p.(Ser126Asn)	NC_000019.9:g.13211521C>T	(Likely) benign	1 lab	db2edd138d
17:29654578 NF1 T>G	17	29654578	29654578	T	G	NF1	c.5330T>G	NM_001042492.3	NP_001035957.1:p.(Val1777Gly)	NC_000017.10:g.29654578T>G	VUS	1 lab	db2f08458d
16:89347204 ANKRD11 C>T	16	89347204	89347204	C	T	ANKRD11	c.5746G>A	NM_013275.6	NP_037407.4:p.(Asp1916Asn)	NC_000016.9:g.89347204C>T	(Likely) benign	1 lab	db2fbbe068
4:119237328 PRSS12 G>T	4	119237328	119237328	G	T	PRSS12	c.1292+9C>A	NM_003619.4	NP_003610.2:p.?	NC_000004.11:g.119237328G>T	VUS	1 lab	db3123768b
6:56362306 DST C>CTGAAGTAATAGGCAGTT	6	56362306	56362324	C	CTGAAGTAATAGGCAGTT	DST	c.13738-18_13738-2dup	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56362308_56362324dup	(Likely) benign	1 lab	da7f1c0135
16:845996 CHTF18 T>A	16	845996	845996	T	A	CHTF18	c.2375T>A	NM_022092.3	NP_071375.1:p.(Leu792Gln)	NC_000016.9:g.845996T>A	VUS	1 lab	db32f2e98e
21:45706900 AIRE C>T	21	45706900	45706900	C	T	AIRE	c.347C>T	NM_000383.4	NP_000374.1:p.(Pro116Leu)	NC_000021.8:g.45706900C>T	VUS	1 lab	db3387e218
11:64031030 PLCB3 G>A	11	64031030	64031030	G	A	PLCB3	c.2416G>A	NM_000932.5	NP_000923.1:p.(Val806Ile)	NC_000011.9:g.64031030G>A	(Likely) benign	1 lab	db34073770
17:7414527 POLR2A AC>A	17	7414527	7414528	AC	A	POLR2A	c.3814-6del	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7414528del	(Likely) benign	1 lab	db34363d7a
21:47776895 PCNT C>G	21	47776895	47776895	C	G	PCNT	c.1943C>G	NM_006031.6	NP_006022.3:p.(Pro648Arg)	NC_000021.8:g.47776895C>G	(Likely) benign	1 lab	db344a9eb4
16:68835678 CDH1 G>A	16	68835678	68835678	G	A	CDH1	c.269G>A	NM_004360.5	NP_004351.1:p.(Arg90Gln)	NC_000016.9:g.68835678G>A	VUS	1 lab	db35a92716
1:156131131 SEMA4A C>A	1	156131131	156131131	C	A	SEMA4A	c.811-6C>A	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156131131C>A	(Likely) benign	1 lab	db369e98b6
5:140778962 PCDHGB4 G>A	5	140778962	140778962	G	A	PCDHGB4	c.2397+9114G>A	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140778962G>A	VUS	1 lab	db36b63dad
11:65793454 CATSPER1 C>T	11	65793454	65793454	C	T	CATSPER1	c.397G>A	NM_053054.4	NP_444282.3:p.(Gly133Ser)	NC_000011.9:g.65793454C>T	(Likely) benign	1 lab	da867354ac
22:40415988 SACK1F A>G	22	40415988	40415988	A	G	SACK1F	c.755A>G	NM_138435.4	NP_612444.2:p.(Asp252Gly)	NC_000022.10:g.40415988A>G	VUS	1 lab	db3c610bda
3:57817114 SLMAP A>G	3	57817114	57817114	A	G	SLMAP	c.203A>G	NM_001377540.1	NP_001364469.1:p.(Tyr68Cys)	NC_000003.11:g.57817114A>G	VUS	1 lab	db3e16ec4e
8:61750236 CHD7 A>G	8	61750236	61750236	A	G	CHD7	c.4195A>G	NM_017780.4	NP_060250.2:p.(Arg1399Gly)	NC_000008.10:g.61750236A>G	(Likely) pathogenic	1 lab	db3e1eecc2
2:47702310 MSH2 G>C	2	47702310	47702310	G	C	MSH2	c.1906G>C	NM_000251.3	NP_000242.1:p.(Ala636Pro)	NC_000002.11:g.47702310G>C	(Likely) pathogenic	1 lab	db3e62ba2d
4:15572106 CC2D2A AT>A	4	15572106	15572109	AT	A	CC2D2A	c.3584del	NM_001378615.1	NP_001365544.1:p.(Phe1195SerfsTer11)	NC_000004.11:g.15572109del	VUS	1 lab	db3f0ef970
5:14498216 TRIO T>C	5	14498216	14498216	T	C	TRIO	c.8066T>C	NM_007118.4	NP_009049.2:p.(Ile2689Thr)	NC_000005.9:g.14498216T>C	(Likely) benign	1 lab	db41adb6bf
15:68583082 FEM1B A>T	15	68583082	68583082	A	T	FEM1B	c.1386A>T	NM_015322.5	NP_056137.1:p.(Glu462Asp)	NC_000015.9:g.68583082A>T	(Likely) benign	1 lab	db4c8661e6
14:105415031 AHNAK2 C>G	14	105415031	105415031	C	G	AHNAK2	c.6757G>C	NM_138420.4	NP_612429.2:p.(Gly2253Arg)	NC_000014.8:g.105415031C>G	(Likely) benign	1 lab	db42cdbb95
16:89816193 FANCA C>T	16	89816193	89816193	C	T	FANCA	c.3184G>A	NM_000135.4	NP_000126.2:p.(Gly1062Arg)	NC_000016.9:g.89816193C>T	(Likely) benign	1 lab	db42f52ae8
15:72978600 BBS4 C>T	15	72978600	72978600	C	T	BBS4	c.24+8C>T	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72978600C>T	(Likely) benign	1 lab	db437975b5
14:101347675 RTL1 C>T	14	101347675	101347675	C	T	RTL1	c.3451G>A	NM_001134888.3	NP_001128360.1:p.(Ala1151Thr)	NC_000014.8:g.101347675C>T	VUS	1 lab	db43ff155d
4:46258313 GABRA2 A>AT	4	46258313	46258314	A	AT	GABRA2	c.1059+5629dup	NM_000807.4	NP_000798.2:p.?	NC_000004.11:g.46258314dup	VUS	1 lab	db45ca75a5
Y:16952869 NLGN4Y C>A	Y	16952869	16952869	C	A	NLGN4Y	c.2238C>A	NM_001365588.1	NP_001352517.1:p.(Asn746Lys)	NC_000024.9:g.16952869C>A	VUS	1 lab	db46a3e4da
16:20994160 DNAH3 G>A	16	20994160	20994160	G	A	DNAH3	c.7604C>T	NM_001347886.2	NP_001334815.1:p.(Pro2535Leu)	NC_000016.9:g.20994160G>A	VUS	1 lab	db472cede6
4:85722861 WDFY3 G>A	4	85722861	85722861	G	A	WDFY3	c.2764C>T	NM_014991.6	NP_055806.2:p.(Pro922Ser)	NC_000004.11:g.85722861G>A	VUS	1 lab	db47473ccc
12:7362773 PEX5 C>T	12	7362773	7362773	C	T	PEX5	c.1874C>T	NM_001351132.2	NP_001338061.1:p.(Ala625Val)	NC_000012.11:g.7362773C>T	(Likely) benign	1 lab	db47e4c79d
12:121416890 HNF1A C>A	12	121416890	121416890	C	A	HNF1A	c.319C>A	NM_000545.8	NP_000536.6:p.(Leu107Ile)	NC_000012.11:g.121416890C>A	(Likely) pathogenic	1 lab	db4906fa96
2:25966753 ASXL2 A>G	2	25966753	25966753	A	G	ASXL2	c.2453T>C	NM_018263.6	NP_060733.4:p.(Val818Ala)	NC_000002.11:g.25966753A>G	(Likely) benign	1 lab	db4a0cf1ba
3:100148604 LNP1 G>A	3	100148604	100148604	G	A	LNP1	c.31G>A	NM_001085451.2	NP_001078920.1:p.(Val11Met)	NC_000003.11:g.100148604G>A	VUS	1 lab	db4b23b09e
5:54529084 CCNO C>CGGGCT	5	54529084	54529093	C	CGGGCT	CCNO	c.263_267dup	NM_021147.5	NP_066970.3:p.(Val90SerfsTer6)	NC_000005.9:g.54529089_54529093dup	(Likely) pathogenic	1 lab	db4c54d4df
19:4048178 ZBTB7A A>C	19	4048178	4048178	A	C	ZBTB7A	c.1327T>G	NM_015898.4	NP_056982.1:p.(Cys443Gly)	NC_000019.9:g.4048178A>C	VUS	1 lab	da8723afac
4:7435481 PSAPL1 G>A	4	7435481	7435481	G	A	PSAPL1	c.1126C>T	NM_001085382.2	NP_001078851.1:p.(His376Tyr)	NC_000004.11:g.7435481G>A	(Likely) benign	1 lab	db4ca10b95
17:29486029 NF1 G>T	17	29486029	29486029	G	T	NF1	c.206G>T	NM_001042492.3	NP_001035957.1:p.(Arg69Ile)	NC_000017.10:g.29486029G>T	VUS	1 lab	db4f142727
12:7361645 PEX5 G>A	12	7361645	7361645	G	A	PEX5	c.1439G>A	NM_001351132.2	NP_001338061.1:p.(Arg480Gln)	NC_000012.11:g.7361645G>A	(Likely) benign	1 lab	db4f196e16
20:43595238 STK4 C>T	20	43595238	43595238	C	T	STK4	c.29C>T	NM_006282.5	NP_006273.1:p.(Pro10Leu)	NC_000020.10:g.43595238C>T	VUS	1 lab	db4f9dcbcd
9:113137644 SVEP1 C>T	9	113137644	113137644	C	T	SVEP1	c.10600+4G>A	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113137644C>T	(Likely) benign	1 lab	db509ed050
19:15285088 NOTCH3 G>C	19	15285088	15285088	G	C	NOTCH3	c.4527C>G	NM_000435.3	NP_000426.2:p.(Ala1509=)	NC_000019.9:g.15285088G>C	(Likely) benign	1 lab	db50fcba5c
M:9804 MISSING G>A	M	9804		G	A	MISSING				NC_012920.1:m.9804G>A	(Likely) benign	1 lab	db51fb7f40
4:85661412 WDFY3 A>T	4	85661412	85661412	A	T	WDFY3	c.6392T>A	NM_014991.6	NP_055806.2:p.(Leu2131Gln)	NC_000004.11:g.85661412A>T	VUS	1 lab	db53e0eb6b
20:33033092 ITCH C>T	20	33033092	33033092	C	T	ITCH	c.966C>T	NM_031483.7	NP_113671.3:p.(Gly322=)	NC_000020.10:g.33033092C>T	(Likely) benign	1 lab	db5688b4fa
13:35926304 NBEA C>T	13	35926304	35926304	C	T	NBEA	c.6023C>T	NM_001385012.1	NP_001371941.1:p.(Ala2008Val)	NC_000013.10:g.35926304C>T	(Likely) benign	1 lab	db57316a0f
16:23646192 PALB2 G>GA	16	23646192	23646194	G	GA	PALB2	c.1674dup	NM_024675.4	NP_078951.2:p.(Gln559SerfsTer19)	NC_000016.9:g.23646194dup	(Likely) pathogenic	1 lab	db59b7fccc
9:138660769 KCNT1 A>G	9	138660769	138660769	A	G	KCNT1	c.1496A>G	NM_020822.3	NP_065873.2:p.(His499Arg)	NC_000009.11:g.138660769A>G	VUS	1 lab	db5af191b8
3:87322524 POU1F1 G>T	3	87322524	87322524	G	T	POU1F1	c.187C>A	NM_000306.4	NP_000297.1:p.(Gln63Lys)	NC_000003.11:g.87322524G>T	VUS	1 lab	db5af96b7d
15:99454674 IGF1R A>G	15	99454674	99454674	A	G	IGF1R	c.1589+4A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99454674A>G	VUS	1 lab	db5ca68cb7
2:233028171 DIS3L2 AGCTG>A	2	233028171	233028178	AGCTG	A	DIS3L2	c.957_960del	NM_152383.5	NP_689596.4:p.(Ala320ArgfsTer17)	NC_000002.11:g.233028175_233028178del	VUS	1 lab	db5cda739c
12:96181228 NTN4 C>A	12	96181228	96181228	C	A	NTN4	c.74G>T	NM_021229.4	NP_067052.2:p.(Gly25Val)	NC_000012.11:g.96181228C>A	(Likely) benign	1 lab	db60e0fb73
16:10997570 CIITA T>G	16	10997570	10997570	T	G	CIITA	c.773-18T>G	NM_000246.3	NP_000237.2:p.?	NC_000016.9:g.10997570T>G	(Likely) benign	1 lab	2e7d29450c
15:34131025 RYR3 T>A	15	34131025	34131025	T	A	RYR3	c.12844T>A	NM_001036.6	NP_001027.3:p.(Phe4282Ile)	NC_000015.9:g.34131025T>A	VUS	1 lab	db6371437b
12:48387639 COL2A1 G>T	12	48387639	48387639	G	T	COL2A1	c.877C>A	NM_001844.5	NP_001835.3:p.(Pro293Thr)	NC_000012.11:g.48387639G>T	VUS	1 lab	db6476dc61
17:48264286 COL1A1 G>A	17	48264286	48264286	G	A	COL1A1	c.3532-3C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48264286G>A	(Likely) benign	1 lab	db64ff46db
19:7141705 INSR G>A	19	7141705	7141705	G	A	INSR	c.2665C>T	NM_000208.4	NP_000199.2:p.(Arg889Trp)	NC_000019.9:g.7141705G>A	(Likely) benign	1 lab	db6560261a
12:49446070 KMT2D G>A	12	49446070	49446070	G	A	KMT2D	c.1396C>T	NM_003482.4	NP_003473.3:p.(Arg466Cys)	NC_000012.11:g.49446070G>A	(Likely) benign	1 lab	da87d54c7f
14:76543036 IFT43 T>C	14	76543036	76543036	T	C	IFT43	c.296-5602T>C	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76543036T>C	VUS	1 lab	db6706d9b7
4:1807824 FGFR3 A>G	4	1807824	1807824	A	G	FGFR3	c.1883A>G	NM_000142.5	NP_000133.1:p.(Asp628Gly)	NC_000004.11:g.1807824A>G	VUS	1 lab	da88bb4c42
X:140995009 MAGEC1 T>C	X	140995009	140995009	T	C	MAGEC1	c.1819T>C	NM_005462.5	NP_005453.2:p.(Ser607Pro)	NC_000023.10:g.140995009T>C	VUS	1 lab	db686ace1f
1:183091222 LAMC1 C>T	1	183091222	183091222	C	T	LAMC1	c.2237C>T	NM_002293.4	NP_002284.3:p.(Thr746Met)	NC_000001.10:g.183091222C>T	VUS	1 lab	db69df457c
1:120479907 NOTCH2 C>T	1	120479907	120479907	C	T	NOTCH2	c.3520G>A	NM_024408.4	NP_077719.2:p.(Glu1174Lys)	NC_000001.10:g.120479907C>T	(Likely) benign	1 lab	db6a05346c
8:100147294 VPS13B T>G	8	100147294	100147294	T	G	VPS13B	c.1354T>G	NM_152564.5	NP_689777.3:p.(Cys452Gly)	NC_000008.10:g.100147294T>G	VUS	1 lab	db6b688f2d
6:117252598 RFX6 A>C	6	117252598	117252598	A	C	RFX6	c.2716A>C	NM_173560.4	NP_775831.2:p.(Ser906Arg)	NC_000006.11:g.117252598A>C	(Likely) benign	1 lab	db6ba2589c
11:119212576 MFRP G>A	11	119212576	119212576	G	A	MFRP	c.1506C>T	NM_031433.4	NP_113621.1:p.(Ser502=)	NC_000011.9:g.119212576G>A	VUS	1 lab	db6baff2cb
3:9730640 MTMR14 G>A	3	9730640	9730640	G	A	MTMR14	c.1307G>A	NM_001077525.3	NP_001070993.1:p.(Arg436His)	NC_000003.11:g.9730640G>A	VUS	1 lab	db6c64fabe
12:112892379 PTPN11 C>T	12	112892379	112892379	C	T	PTPN11	c.537C>T	NM_002834.5	NP_002825.3:p.(Tyr179=)	NC_000012.11:g.112892379C>T	(Likely) benign	1 lab	db6c8ba2df
6:110059539 FIG4 A>G	6	110059539	110059539	A	G	FIG4	c.658A>G	NM_014845.6	NP_055660.1:p.(Ile220Val)	NC_000006.11:g.110059539A>G	(Likely) benign	1 lab	db6d41c209
6:75841697 COL12A1 C>T	6	75841697	75841697	C	T	COL12A1	c.5896G>A	NM_004370.6	NP_004361.3:p.(Val1966Ile)	NC_000006.11:g.75841697C>T	VUS	1 lab	db6e2d12a6
1:46655129 POMGNT1 C>T	1	46655129	46655129	C	T	POMGNT1	c.1895+1G>A	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46655129C>T	(Likely) pathogenic	1 lab	db6e823a73
2:27166006 DPYSL5 G>C	2	27166006	27166006	G	C	DPYSL5	c.1440+388G>C	NM_020134.4	NP_064519.2:p.?	NC_000002.11:g.27166006G>C	(Likely) benign	1 lab	db6f64abf2
3:155232562 PLCH1 G>A	3	155232562	155232562	G	A	PLCH1	c.1582C>T	NM_014996.4	NP_055811.2:p.(Arg528Trp)	NC_000003.11:g.155232562G>A	VUS	1 lab	db6f6605f3
6:51907901 PKHD1 G>T	6	51907901	51907901	G	T	PKHD1	c.2853C>A	NM_138694.4	NP_619639.3:p.(Thr951=)	NC_000006.11:g.51907901G>T	VUS	1 lab	db6fc2526f
3:69050747 EOGT GTTAT>G	3	69050747	69050753	GTTAT	G	EOGT	c.727+8_727+11del	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69050750_69050753del	VUS	1 lab	db6fca07d6
16:75665732 KARS1 C>T	16	75665732	75665732	C	T	KARS1	c.937G>A	NM_005548.3	NP_005539.1:p.(Asp313Asn)	NC_000016.9:g.75665732C>T	VUS	1 lab	db70a71733
17:65908769 BPTF C>T	17	65908769	65908769	C	T	BPTF	c.4769C>T	NM_182641.4	NP_872579.2:p.(Thr1590Met)	NC_000017.10:g.65908769C>T	(Likely) benign	1 lab	db73be98b7
14:77844151 SAMD15 TAAAG>T	14	77844151	77844156	TAAAG	T	SAMD15	c.392_395del	NM_001010860.4	NP_001010860.1:p.(Lys131SerfsTer4)	NC_000014.8:g.77844153_77844156del	VUS	1 lab	db73f09eb7
1:181452978 CACNA1E C>T	1	181452978	181452978	C	T	CACNA1E	c.98C>T	NM_001205293.3	NP_001192222.1:p.(Ser33Leu)	NC_000001.10:g.181452978C>T	VUS	1 lab	db75941ccb
19:39191246 ACTN4 A>G	19	39191246	39191246	A	G	ACTN4	c.169A>G	NM_004924.6	NP_004915.2:p.(Thr57Ala)	NC_000019.9:g.39191246A>G	VUS	1 lab	db7a1279ed
19:47249351 STRN4 A>AGGCCGGGCCG	19	47249351	47249373	A	AGGCCGGGCCG	STRN4	c.282+45_282+54dup	NM_013403.3	NP_037535.2:p.?	NC_000019.9:g.47249364_47249373dup	(Likely) benign	1 lab	db7a479fca
19:50338793 MED25 G>C	19	50338793	50338793	G	C	MED25	c.1677G>C	NM_030973.4	NP_112235.2:p.(Met559Ile)	NC_000019.9:g.50338793G>C	VUS	1 lab	db7c0f49af
16:90089130 DRC4 A>G	16	90089130	90089130	A	G	DRC4	c.1A>G	NM_001481.3	NP_001472.1:p.(Met1?)	NC_000016.9:g.90089130A>G	VUS	1 lab	db822f2608
12:113327891 RPH3A C>T	12	113327891	113327891	C	T	RPH3A	c.1620+6C>T	NM_001143854.2	NP_001137326.1:p.?	NC_000012.11:g.113327891C>T	VUS	1 lab	db83fe4e41
4:128802979 PLK4 T>G	4	128802979	128802979	T	G	PLK4	c.31-7T>G	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128802979T>G	VUS	1 lab	dcad93ed8b
2:238255126 COL6A3 A>G	2	238255126	238255126	A	G	COL6A3	c.7092+20T>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238255126A>G	(Likely) benign	1 lab	db840085d7
6:30994890 MUC22 T>A	6	30994890	30994890	T	A	MUC22	c.1682T>A	NM_001395414.1	NP_001382343.1:p.(Ile561Lys)	NC_000006.11:g.30994890T>A	VUS	1 lab	db85043df1
2:48027539 MSH6 C>G	2	48027539	48027539	C	G	MSH6	c.2417C>G	NM_000179.3	NP_000170.1:p.(Ser806Cys)	NC_000002.11:g.48027539C>G	VUS	1 lab	db8629d737
19:57065345 ZFP28 A>T	19	57065345	57065345	A	T	ZFP28	c.1191A>T	NM_020828.2	NP_065879.1:p.(Ser397=)	NC_000019.9:g.57065345A>T	(Likely) benign	1 lab	db86371109
12:7045939 ATN1 T>TCAC	12	7045939	7045942	T	TCAC	ATN1	c.1510_1512dup	NM_001940.4	NP_001931.2:p.(His504dup)	NC_000012.11:g.7045940_7045942dup	(Likely) benign	1 lab	db86caeace
1:197057388 ASPM A>T	1	197057388	197057388	A	T	ASPM	c.10159T>A	NM_018136.5	NP_060606.3:p.(Ser3387Thr)	NC_000001.10:g.197057388A>T	(Likely) benign	1 lab	db87f8a9fd
2:154996935 GALNT13 G>T	2	154996935	154996935	G	T	GALNT13	c.228G>T	NM_052917.4	NP_443149.2:p.(Glu76Asp)	NC_000002.11:g.154996935G>T	VUS	1 lab	db88307f82
10:88994205 NUTM2A G>A	10	88994205	88994205	G	A	NUTM2A	c.2377G>A	NM_001099338.2	NP_001092808.1:p.(Gly793Arg)	NC_000010.10:g.88994205G>A	VUS	1 lab	db887cbd48
1:144871782 PDE4DIP A>G	1	144871782	144871782	A	G	PDE4DIP	c.5378T>C	NM_001395426.1	NP_001382355.1:p.(Leu1793Pro)	NC_000001.10:g.144871782A>G	VUS	1 lab	db8928c425
6:32064371 TNXB A>G	6	32064371	32064371	A	G	TNXB	c.1259T>C	NM_001365276.2	NP_001352205.1:p.(Val420Ala)	NC_000006.11:g.32064371A>G	VUS	1 lab	db89b04ee0
3:53126065 RFT1 C>T	3	53126065	53126065	C	T	RFT1	c.1480G>A	NM_052859.4	NP_443091.1:p.(Gly494Ser)	NC_000003.11:g.53126065C>T	VUS	1 lab	db89bfc865
2:71801413 DYSF A>T	2	71801413	71801413	A	T	DYSF	c.3314A>T	NM_001130987.2	NP_001124459.1:p.(Asp1105Val)	NC_000002.11:g.71801413A>T	VUS	1 lab	db8a63af79
10:89473074 PAPSS2 A>G	10	89473074	89473074	A	G	PAPSS2	c.381+7A>G	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473074A>G	(Likely) benign	1 lab	db8a8cbd3b
9:15469015 PSIP1 T>G	9	15469015	15469015	T	G	PSIP1	c.1146A>C	NM_033222.5	NP_150091.2:p.(Ser382=)	NC_000009.11:g.15469015T>G	VUS	1 lab	db8bfe9b7f
6:79707324 PHIP A>G	6	79707324	79707324	A	G	PHIP	c.2018-10T>C	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79707324A>G	(Likely) benign	1 lab	db8d05ce02
9:135946548 CEL C>G	9	135946548	135946548	C	G	CEL	c.1659C>G	NM_001807.6	NP_001798.3:p.(Thr553=)	NC_000009.11:g.135946548C>G	(Likely) benign	1 lab	db8ddb09a7
10:103535649 FGF8 G>T	10	103535649	103535649	G	T	FGF8	c.9C>A	NM_033163.5	NP_149353.1:p.(Ser3Arg)	NC_000010.10:g.103535649G>T	VUS	1 lab	db8dddbb6d
19:1619417 TCF3 G>A	19	1619417	1619417	G	A	TCF3	c.1224C>T	NM_003200.5	NP_003191.1:p.(Ala408=)	NC_000019.9:g.1619417G>A	(Likely) benign	1 lab	2e7dec0fad
7:6862936 CCZ1B A>G	7	6862936	6862936	A	G	CCZ1B	c.438+8T>C	NM_198097.5	NP_932765.1:p.?	NC_000007.13:g.6862936A>G	(Likely) benign	1 lab	db8edeaaee
10:35790450 CCNY T>G	10	35790450	35790450	T	G	CCNY	c.251T>G	NM_145012.6	NP_659449.3:p.(Leu84Arg)	NC_000010.10:g.35790450T>G	(Likely) benign	1 lab	db8f58f7e0
11:113264338 ANKK1 G>C	11	113264338	113264338	G	C	ANKK1	c.321G>C	NM_178510.2	NP_848605.1:p.(Glu107Asp)	NC_000011.9:g.113264338G>C	VUS	1 lab	db91e4d6bd
11:102826326 MMP13 G>C	11	102826326	102826326	G	C	MMP13	c.109C>G	NM_002427.4	NP_002418.1:p.(Gln37Glu)	NC_000011.9:g.102826326G>C	(Likely) benign	1 lab	db9262b54f
21:47754488 PCNT A>G	21	47754488	47754488	A	G	PCNT	c.445A>G	NM_006031.6	NP_006022.3:p.(Ser149Gly)	NC_000021.8:g.47754488A>G	VUS	1 lab	db93687f9e
X:117739235 DOCK11 A>G	X	117739235	117739235	A	G	DOCK11	c.2597A>G	NM_144658.4	NP_653259.3:p.(Gln866Arg)	NC_000023.10:g.117739235A>G	(Likely) benign	1 lab	db949164c1
X:43587569 MAOA G>A	X	43587569	43587569	G	A	MAOA	c.645+8G>A	NM_000240.4	NP_000231.1:p.?	NC_000023.10:g.43587569G>A	(Likely) benign	1 lab	db94e9919e
9:35555320 RUSC2 AGAG>A	9	35555320	35555324	AGAG	A	RUSC2	c.2280_2282del	NM_014806.5	NP_055621.2:p.(Arg760_Gly761delinsSer)	NC_000009.11:g.35555322_35555324del	VUS	1 lab	db96653e0c
8:120116066 COLEC10 G>A	8	120116066	120116066	G	A	COLEC10	c.374G>A	NM_006438.5	NP_006429.2:p.(Arg125Gln)	NC_000008.10:g.120116066G>A	VUS	1 lab	db96fbfd54
2:228134615 COL4A3 T>C	2	228134615	228134615	T	C	COL4A3	c.1505-11T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228134615T>C	(Likely) benign	1 lab	2e7fac347f
X:24329791 SUPT20HL2 G>A	X	24329791	24329791	G	A	SUPT20HL2	c.1642C>T	NM_001136233.3	NP_001129705.3:p.(Arg548Cys)	NC_000023.10:g.24329791G>A	(Likely) benign	1 lab	db9973b427
11:67804028 NDUFS8 G>A	11	67804028	67804028	G	A	NDUFS8	c.601G>A	NM_002496.4	NP_002487.1:p.(Ala201Thr)	NC_000011.9:g.67804028G>A	VUS	1 lab	db9aa154d3
22:21336686 LZTR1 G>A	22	21336686	21336686	G	A	LZTR1	c.26G>A	NM_006767.4	NP_006758.2:p.(Gly9Glu)	NC_000022.10:g.21336686G>A	(Likely) benign	1 lab	db9ac7f5c6
10:74183082 MICU1 A>C	10	74183082	74183082	A	C	MICU1	c.981T>G	NM_001195518.2	NP_001182447.1:p.(Phe327Leu)	NC_000010.10:g.74183082A>C	VUS	1 lab	db9c7c6672
11:5529171 UBQLN3 G>A	11	5529171	5529171	G	A	UBQLN3	c.1618C>T	NM_017481.4	NP_059509.1:p.(Arg540Cys)	NC_000011.9:g.5529171G>A	VUS	1 lab	db9d28b747
7:151860638 KMT2C C>A	7	151860638	151860638	C	A	KMT2C	c.10024G>T	NM_170606.3	NP_733751.2:p.(Ala3342Ser)	NC_000007.13:g.151860638C>A	(Likely) benign	1 lab	db9ed8c5b2
X:39923645 BCOR G>A	X	39923645	39923645	G	A	BCOR	c.3446C>T	NM_001123385.2	NP_001116857.1:p.(Ala1149Val)	NC_000023.10:g.39923645G>A	(Likely) benign	1 lab	db9f4eea9f
7:91694542 AKAP9 C>G	7	91694542	91694542	C	G	AKAP9	c.5978-3C>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91694542C>G	VUS	1 lab	da92addde9
10:81062688 ZMIZ1 C>G	10	81062688	81062688	C	G	ZMIZ1	c.2125+719C>G	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.81062688C>G	(Likely) benign	1 lab	dba0196d7b
5:156689812 MISSING T>C	5	156689812	156689812	T	C	MISSING				NC_000005.9:g.156689812T>C	(Likely) benign	1 lab	dba29c8999
8:29202943 DUSP4 G>A	8	29202943	29202943	G	A	DUSP4	c.433+4420C>T	NM_001394.7	NP_001385.1:p.?	NC_000008.10:g.29202943G>A	(Likely) benign	1 lab	dba3dd5e4f
7:34192800 BMPER C>T	7	34192800	34192800	C	T	BMPER	c.1973C>T	NM_001365308.1	NP_001352237.1:p.(Pro658Leu)	NC_000007.13:g.34192800C>T	VUS	1 lab	dba4c1b190
13:111121644 COL4A2 G>C	13	111121644	111121644	G	C	COL4A2	c.2176G>C	NM_001846.4	NP_001837.2:p.(Gly726Arg)	NC_000013.10:g.111121644G>C	VUS	1 lab	dba506bc2b
X:18222020 BEND2 A>T	X	18222020	18222020	A	T	BEND2	c.508T>A	NM_153346.5	NP_699177.2:p.(Ser170Thr)	NC_000023.10:g.18222020A>T	VUS	1 lab	dba5496168
6:87970258 ZNF292 G>A	6	87970258	87970258	G	A	ZNF292	c.6911G>A	NM_015021.3	NP_055836.1:p.(Ser2304Asn)	NC_000006.11:g.87970258G>A	VUS	1 lab	dba5922e2c
3:196541386 PAK2 G>A	3	196541386	196541386	G	A	PAK2	c.1000G>A	NM_002577.4	NP_002568.2:p.(Val334Met)	NC_000003.11:g.196541386G>A	VUS	1 lab	dba64c73d7
22:32217621 DEPDC5 A>G	22	32217621	32217621	A	G	DEPDC5	c.2004A>G	NM_001242896.3	NP_001229825.1:p.(Gly668=)	NC_000022.10:g.32217621A>G	(Likely) benign	1 lab	dba7893f57
12:9072371 PHC1 G>A	12	9072371	9072371	G	A	PHC1	c.134G>A	NM_004426.3	NP_004417.2:p.(Arg45Gln)	NC_000012.11:g.9072371G>A	VUS	1 lab	dba7d2dfe0
16:72048540 DHODH C>T	16	72048540	72048540	C	T	DHODH	c.403C>T	NM_001361.5	NP_001352.2:p.(Arg135Cys)	NC_000016.9:g.72048540C>T	(Likely) pathogenic	1 lab	dba7f12a95
1:176668584 PAPPA2 A>T	1	176668584	176668584	A	T	PAPPA2	c.3095A>T	NM_020318.3	NP_064714.2:p.(Asp1032Val)	NC_000001.10:g.176668584A>T	(Likely) pathogenic	1 lab	dbaa19513e
9:97876921 FANCC G>C	9	97876921	97876921	G	C	FANCC	c.1144C>G	NM_000136.3	NP_000127.2:p.(Gln382Glu)	NC_000009.11:g.97876921G>C	(Likely) benign	1 lab	dbaa3c7988
X:132092567 HS6ST2 G>T	X	132092567	132092567	G	T	HS6ST2	c.64C>A	NM_001394073.1	NP_001381002.1:p.(Pro22Thr)	NC_000023.10:g.132092567G>T	(Likely) benign	1 lab	dbaa91fc9c
18:28934473 DSG1 G>A	18	28934473	28934473	G	A	DSG1	c.2314G>A	NM_001942.4	NP_001933.2:p.(Asp772Asn)	NC_000018.9:g.28934473G>A	(Likely) benign	1 lab	dbb2f3a94b
1:145273366 NOTCH2NLA C>T	1	145273366	145273366	C	T	NOTCH2NLA	c.220C>T	NM_203458.6	NP_982283.2:p.(Arg74Ter)	NC_000001.10:g.145273366C>T	(Likely) benign	1 lab	dbb64092fc
3:197024534 DLG1 T>C	3	197024534	197024534	T	C	DLG1	c.-31-428A>G	NM_001366207.1	NP_001353136.1:p.?	NC_000003.11:g.197024534T>C	(Likely) benign	1 lab	dbb6cd3e1b
6:7248990 RREB1 G>A	6	7248990	7248990	G	A	RREB1	c.5018G>A	NM_001003699.4	NP_001003699.1:p.(Arg1673Gln)	NC_000006.11:g.7248990G>A	(Likely) benign	1 lab	dbba275e57
17:66533742 FAM20A C>T	17	66533742	66533742	C	T	FAM20A	c.1502G>A	NM_017565.4	NP_060035.2:p.(Arg501Lys)	NC_000017.10:g.66533742C>T	VUS	1 lab	dbbc01f543
9:21854816 MTAP G>A	9	21854816	21854816	G	A	MTAP	c.637G>A	NM_002451.4	NP_002442.2:p.(Ala213Thr)	NC_000009.11:g.21854816G>A	VUS	1 lab	dbbc8ea67d
17:41244904 BRCA1 AT>A	17	41244904	41244906	AT	A	BRCA1	c.2643del	NM_007294.4	NP_009225.1:p.(Glu881AspfsTer12)	NC_000017.10:g.41244906del	(Likely) pathogenic	1 lab	dbbd4932e2
2:179714790 CCDC141 C>T	2	179714790	179714790	C	T	CCDC141	c.3343G>A	NM_173648.4	NP_775919.3:p.(Glu1115Lys)	NC_000002.11:g.179714790C>T	VUS	1 lab	dbbdccc4d3
16:23226768 SCNN1G C>A	16	23226768	23226768	C	A	SCNN1G	c.1928C>A	NM_001039.4	NP_001030.2:p.(Thr643Asn)	NC_000016.9:g.23226768C>A	VUS	1 lab	dbbde31d77
3:129233404 IFT122 A>G	3	129233404	129233404	A	G	IFT122	c.3153+7A>G	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129233404A>G	(Likely) benign	1 lab	dbbe084f4b
3:143412138 SLC9A9 T>C	3	143412138	143412138	T	C	SLC9A9	c.545A>G	NM_173653.4	NP_775924.1:p.(Tyr182Cys)	NC_000003.11:g.143412138T>C	VUS	1 lab	dbbf73a655
7:21882337 DNAH11 A>G	7	21882337	21882337	A	G	DNAH11	c.10867A>G	NM_001277115.2	NP_001264044.1:p.(Ile3623Val)	NC_000007.13:g.21882337A>G	VUS	1 lab	dbc00bd476
1:154558261 ADAR G>C	1	154558261	154558261	G	C	ADAR	c.3283C>G	NM_001111.5	NP_001102.3:p.(Leu1095Val)	NC_000001.10:g.154558261G>C	VUS	1 lab	dbc0b933e3
X:50089805 CCNB3 G>A	X	50089805	50089805	G	A	CCNB3	c.3809G>A	NM_033031.3	NP_149020.2:p.(Arg1270Lys)	NC_000023.10:g.50089805G>A	(Likely) benign	1 lab	dbc26d4dd8
5:176637865 NSD1 C>G	5	176637865	176637865	C	G	NSD1	c.2465C>G	NM_022455.5	NP_071900.2:p.(Ser822Cys)	NC_000005.9:g.176637865C>G	VUS	1 lab	dbc49f9161
15:61288550 RORA C>T	15	61288550	61288550	C	T	RORA	c.166+232702G>A	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.61288550C>T	(Likely) benign	1 lab	dbc527f6ee
15:90213364 PLIN1 C>A	15	90213364	90213364	C	A	PLIN1	c.445G>T	NM_002666.5	NP_002657.3:p.(Gly149Trp)	NC_000015.9:g.90213364C>A	VUS	1 lab	dbc5dff5b7
17:15903163 TTC19 A>G	17	15903163	15903163	A	G	TTC19	c.1A>G	NM_017775.4	NP_060245.3:p.(Met1?)	NC_000017.10:g.15903163A>G	VUS	1 lab	dbc665b325
8:144990761 PLEC C>T	8	144990761	144990761	C	T	PLEC	c.13228G>A	NM_201384.3	NP_958786.1:p.(Glu4410Lys)	NC_000008.10:g.144990761C>T	VUS	1 lab	dbc666e177
16:2165484 PKD1 G>C	16	2165484	2165484	G	C	PKD1	c.1992C>G	NM_001009944.3	NP_001009944.3:p.(Ala664=)	NC_000016.9:g.2165484G>C	VUS	1 lab	dbc74c0d93
2:233393237 CHRND A>G	2	233393237	233393237	A	G	CHRND	c.380A>G	NM_000751.3	NP_000742.1:p.(Tyr127Cys)	NC_000002.11:g.233393237A>G	(Likely) benign	1 lab	dbcaf9f1d6
15:99672171 SYNM G>A	15	99672171	99672171	G	A	SYNM	c.3606G>A	NM_145728.2	NP_663780.2:p.(Ser1202=)	NC_000015.9:g.99672171G>A	(Likely) benign	1 lab	2e7fdb1c87
16:2164346 PKD1 AGG>A	16	2164346	2164349	AGG	A	PKD1	c.2676_2677del	NM_001009944.3	NP_001009944.3:p.(Leu893ValfsTer11)	NC_000016.9:g.2164348_2164349del	(Likely) pathogenic	1 lab	dbcd6b83e8
1:225195218 DNAH14 T>G	1	225195218	225195218	T	G	DNAH14	c.1079T>G	NM_001367479.1	NP_001354408.1:p.(Ile360Ser)	NC_000001.10:g.225195218T>G	(Likely) benign	1 lab	dbcf144121
1:214815304 CENPF C>T	1	214815304	214815304	C	T	CENPF	c.3623C>T	NM_016343.4	NP_057427.3:p.(Ala1208Val)	NC_000001.10:g.214815304C>T	(Likely) benign	1 lab	dbcf8d778c
3:126722249 PLXNA1 C>T	3	126722249	126722249	C	T	PLXNA1	c.1454C>T	NM_032242.4	NP_115618.3:p.(Pro485Leu)	NC_000003.11:g.126722249C>T	VUS	1 lab	dbd0b807f7
13:25480361 CPAP T>C	13	25480361	25480361	T	C	CPAP	c.1815A>G	NM_018451.5	NP_060921.3:p.(Gln605=)	NC_000013.10:g.25480361T>C	(Likely) benign	1 lab	dbd355558b
6:51910795 PKHD1 T>C	6	51910795	51910795	T	C	PKHD1	c.2592+7A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51910795T>C	(Likely) benign	1 lab	dbd450fad5
6:129777604 LAMA2 A>G	6	129777604	129777604	A	G	LAMA2	c.6832A>G	NM_000426.4	NP_000417.3:p.(Met2278Val)	NC_000006.11:g.129777604A>G	VUS	1 lab	dbd5296ded
9:136200610 SURF6 C>A	9	136200610	136200610	C	A	SURF6	c.337G>T	NM_006753.6	NP_006744.2:p.(Ala113Ser)	NC_000009.11:g.136200610C>A	(Likely) benign	1 lab	dbd576d80e
15:89398602 ACAN C>T	15	89398602	89398602	C	T	ACAN	c.2786C>T	NM_001369268.1	NP_001356197.1:p.(Pro929Leu)	NC_000015.9:g.89398602C>T	VUS	1 lab	dbd5fa26fa
1:28075662 FAM76A A>G	1	28075662	28075662	A	G	FAM76A	c.596A>G	NM_152660.3	NP_689873.1:p.(Asp199Gly)	NC_000001.10:g.28075662A>G	VUS	1 lab	dbd70033d5
2:39250128 SOS1 G>A	2	39250128	39250128	G	A	SOS1	c.1441C>T	NM_005633.4	NP_005624.2:p.(Pro481Ser)	NC_000002.11:g.39250128G>A	VUS	1 lab	dbd714558b
1:64475016 ROR1 C>T	1	64475016	64475016	C	T	ROR1	c.131C>T	NM_005012.4	NP_005003.2:p.(Ser44Leu)	NC_000001.10:g.64475016C>T	(Likely) benign	1 lab	dbd732f29a
18:33716259 ELP2 AT>A	18	33716259	33716266	AT	A	ELP2	c.218-4del	NM_018255.4	NP_060725.1:p.?	NC_000018.9:g.33716266del	VUS	1 lab	dbd7cd5e6a
3:172165601 GHSR G>C	3	172165601	172165601	G	C	GHSR	c.603C>G	NM_198407.2	NP_940799.1:p.(Thr201=)	NC_000003.11:g.172165601G>C	(Likely) benign	1 lab	dbd95f2589
6:157527727 ARID1B C>T	6	157527727	157527727	C	T	ARID1B	c.5821C>T	NM_001374828.1	NP_001361757.1:p.(His1941Tyr)	NC_000006.11:g.157527727C>T	VUS	1 lab	dbd98771c5
4:1803391 FGFR3 C>T	4	1803391	1803391	C	T	FGFR3	c.660C>T	NM_000142.5	NP_000133.1:p.(Pro220=)	NC_000004.11:g.1803391C>T	(Likely) benign	1 lab	dbdb007d3e
4:6303506 WFS1 T>C	4	6303506	6303506	T	C	WFS1	c.1984T>C	NM_006005.3	NP_005996.2:p.(Ser662Pro)	NC_000004.11:g.6303506T>C	VUS	1 lab	dbdb321fb4
12:49431030 KMT2D T>C	12	49431030	49431030	T	C	KMT2D	c.10109A>G	NM_003482.4	NP_003473.3:p.(Gln3370Arg)	NC_000012.11:g.49431030T>C	VUS	1 lab	dbdbc5fc76
11:17415873 ABCC8 G>A	11	17415873	17415873	G	A	ABCC8	c.4485C>T	NM_000352.6	NP_000343.2:p.(Phe1495=)	NC_000011.9:g.17415873G>A	(Likely) benign	1 lab	dbdd1f3f31
20:62114937 MISSING C>T	20	62114937	62114937	C	T	MISSING				NC_000020.10:g.62114937C>T	(Likely) benign	1 lab	dbde5d9bbe
17:79214895 NDUFAF8 G>A	17	79214895	79214895	G	A	NDUFAF8	c.*79G>A	NM_001086521.2	NP_001079990.1:p.?	NC_000017.10:g.79214895G>A	VUS	1 lab	dbdf4f3e6b
9:116731434 ZNF618 C>T	9	116731434	116731434	C	T	ZNF618	c.71C>T	NM_001318042.2	NP_001304971.1:p.(Ala24Val)	NC_000009.11:g.116731434C>T	(Likely) benign	1 lab	dbdfbcc7e8
19:38954079 RYR1 A>T	19	38954079	38954079	A	T	RYR1	c.2594A>T	NM_000540.3	NP_000531.2:p.(His865Leu)	NC_000019.9:g.38954079A>T	(Likely) pathogenic	1 lab	dbe02fb0aa
X:140984712 MAGEC3 A>AGTCCTCCTGAGATTCCTCCCCAGG	X	140984712	140984743	A	AGTCCTCCTGAGATTCCTCCCCAGG	MAGEC3	c.1176_1199dup	NM_138702.1	NP_619647.1:p.(Glu393_Pro400dup)	NC_000023.10:g.140984720_140984743dup	VUS	1 lab	dbe0d116ff
X:152815567 ATP2B3 G>A	X	152815567	152815567	G	A	ATP2B3	c.1646G>A	NM_001001344.3	NP_001001344.1:p.(Gly549Asp)	NC_000023.10:g.152815567G>A	(Likely) benign	1 lab	dbe19cb230
X:32503053 DMD T>C	X	32503053	32503053	T	C	DMD	c.2786A>G	NM_004006.3	NP_003997.2:p.(Glu929Gly)	NC_000023.10:g.32503053T>C	VUS	1 lab	dbe21292b7
17:10549241 MYH3 C>T	17	10549241	10549241	C	T	MYH3	c.1002+5G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10549241C>T	VUS	1 lab	dcbe84fb34
22:32239770 DEPDC5 A>G	22	32239770	32239770	A	G	DEPDC5	c.2773A>G	NM_001242896.3	NP_001229825.1:p.(Ile925Val)	NC_000022.10:g.32239770A>G	VUS	1 lab	dbe2756637
16:2156610 PKD1 A>G	16	2156610	2156610	A	G	PKD1	c.7278T>C	NM_001009944.2	NP_001009944.2:p.(Ser2426=)	NC_000016.9:g.2156610A>G	(Likely) benign	1 lab	2e80867f9e
7:104715267 KMT2E G>A	7	104715267	104715267	G	A	KMT2E	c.729+5G>A	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104715267G>A	(Likely) benign	1 lab	dbe36d4b31
5:78181560 ARSB C>A	5	78181560	78181560	C	A	ARSB	c.989G>T	NM_000046.5	NP_000037.2:p.(Gly330Val)	NC_000005.9:g.78181560C>A	VUS	1 lab	dbe5cb6e96
8:97343279 PTDSS1 C>A	8	97343279	97343279	C	A	PTDSS1	c.1268C>A	NM_014754.3	NP_055569.1:p.(Thr423Asn)	NC_000008.10:g.97343279C>A	(Likely) benign	1 lab	dbe82728cb
9:80880465 CEP78 T>G	9	80880465	80880465	T	G	CEP78	c.1797+6T>G	NM_001330691.3	NP_001317620.1:p.?	NC_000009.11:g.80880465T>G	(Likely) benign	1 lab	dbe85bf999
18:28898282 DSG1 A>G	18	28898282	28898282	A	G	DSG1	c.19A>G	NM_001942.4	NP_001933.2:p.(Arg7Gly)	NC_000018.9:g.28898282A>G	(Likely) benign	1 lab	dbe8aae933
15:89388813 ACAN T>C	15	89388813	89388813	T	C	ACAN	c.1129T>C	NM_001369268.1	NP_001356197.1:p.(Trp377Arg)	NC_000015.9:g.89388813T>C	VUS	1 lab	dbeaa567af
3:126736442 PLXNA1 G>A	3	126736442	126736442	G	A	PLXNA1	c.3451G>A	NM_032242.4	NP_115618.3:p.(Val1151Ile)	NC_000003.11:g.126736442G>A	VUS	1 lab	dbebfa73eb
22:51160168 SHANK3 C>T	22	51160168	51160168	C	T	SHANK3	c.4132C>T	NM_001372044.2	NP_001358973.1:p.(Arg1378Ter)	NC_000022.10:g.51160168C>T	(Likely) pathogenic	1 lab	dbec41a13d
17:79987415 LRRC45 G>C	17	79987415	79987415	G	C	LRRC45	c.1402-4G>C	NM_144999.4	NP_659436.1:p.?	NC_000017.10:g.79987415G>C	(Likely) benign	1 lab	dbec4a655d
20:61512188 DIDO1 T>A	20	61512188	61512188	T	A	DIDO1	c.5120A>T	NM_001193369.2	NP_001180298.1:p.(His1707Leu)	NC_000020.10:g.61512188T>A	(Likely) benign	1 lab	dbec7047f3
2:239161854 PER2 A>T	2	239161854	239161854	A	T	PER2	c.2810T>A	NM_022817.3	NP_073728.1:p.(Leu937His)	NC_000002.11:g.239161854A>T	(Likely) benign	1 lab	dbed2d6774
22:50962597 SCO2 T>C	22	50962597	50962597	T	C	SCO2	c.244A>G	NM_005138.3	NP_005129.2:p.(Lys82Glu)	NC_000022.10:g.50962597T>C	VUS	1 lab	dbee125712
5:127681063 FBN2 C>T	5	127681063	127681063	C	T	FBN2	c.3203G>A	NM_001999.4	NP_001990.2:p.(Arg1068Gln)	NC_000005.9:g.127681063C>T	(Likely) benign	1 lab	dbeea9f006
21:47552389 COL6A2 G>A	21	47552389	47552389	G	A	COL6A2	c.2983G>A	NM_001849.4	NP_001840.3:p.(Ala995Thr)	NC_000021.8:g.47552389G>A	(Likely) benign	1 lab	dbeeed1667
2:100209721 AFF3 G>A	2	100209721	100209721	G	A	AFF3	c.2402C>T	NM_001386135.1	NP_001373064.1:p.(Pro801Leu)	NC_000002.11:g.100209721G>A	(Likely) benign	1 lab	dbeff381de
19:13395967 CACNA1A CCTT>C	19	13395967	13395975	CCTT	C	CACNA1A	c.3604_3606del	NM_001127222.2	NP_001120694.1:p.(Lys1202del)	NC_000019.9:g.13395973_13395975del	(Likely) benign	1 lab	dbf0636a54
1:158533058 OR6P1 C>G	1	158533058	158533058	C	G	OR6P1	c.337G>C	NM_001160325.2	NP_001153797.1:p.(Val113Leu)	NC_000001.10:g.158533058C>G	(Likely) benign	1 lab	dbf3a433d3
1:22214126 HSPG2 C>T	1	22214126	22214126	C	T	HSPG2	c.745G>A	NM_005529.7	NP_005520.4:p.(Val249Met)	NC_000001.10:g.22214126C>T	(Likely) benign	1 lab	dbf499169f
12:56495658 ERBB3 C>G	12	56495658	56495658	C	G	ERBB3	c.3848C>G	NM_001982.4	NP_001973.2:p.(Pro1283Arg)	NC_000012.11:g.56495658C>G	VUS	1 lab	dbf59bed61
6:13615652 NOL7 A>AGGGCCAGCT	6	13615652	13615663	A	AGGGCCAGCT	NOL7	c.65_73dup	NM_016167.5	NP_057251.2:p.(Gly22_Leu24dup)	NC_000006.11:g.13615655_13615663dup	VUS	1 lab	dbf6fe396a
9:140707845 EHMT1 G>A	9	140707845	140707845	G	A	EHMT1	c.3043G>A	NM_024757.5	NP_079033.4:p.(Ala1015Thr)	NC_000009.11:g.140707845G>A	(Likely) benign	1 lab	dbf7954f1d
9:21974776 CDKN2A G>T	9	21974776	21974776	G	T	CDKN2A	c.51C>A	NM_000077.5	NP_000068.1:p.(Ala17=)	NC_000009.11:g.21974776G>T	(Likely) benign	1 lab	dbf85cb952
X:13798106 GPM6B G>A	X	13798106	13798106	G	A	GPM6B	c.528C>T	NM_001001995.3	NP_001001995.1:p.(Phe176=)	NC_000023.10:g.13798106G>A	VUS	1 lab	dbf91daf3d
10:122624636 WDR11 A>G	10	122624636	122624636	A	G	WDR11	c.791A>G	NM_018117.12	NP_060587.8:p.(Tyr264Cys)	NC_000010.10:g.122624636A>G	VUS	1 lab	dbf9febf0f
16:14676028 PARN T>C	16	14676028	14676028	T	C	PARN	c.1192+10A>G	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14676028T>C	(Likely) benign	1 lab	dbfaaa7d76
17:37829822 PGAP3 G>C	17	37829822	37829822	G	C	PGAP3	c.639C>G	NM_033419.5	NP_219487.3:p.(Tyr213Ter)	NC_000017.10:g.37829822G>C	(Likely) pathogenic	1 lab	dbfac597bb
17:78069164 CCDC40 C>T	17	78069164	78069164	C	T	CCDC40	c.2935C>T	NM_017950.4	NP_060420.2:p.(Arg979Cys)	NC_000017.10:g.78069164C>T	(Likely) benign	1 lab	dbfb056ef7
5:112157650 APC C>G	5	112157650	112157650	C	G	APC	c.1370C>G	NM_000038.6	NP_000029.2:p.(Ser457Ter)	NC_000005.9:g.112157650C>G	(Likely) pathogenic	1 lab	dbfb422d2c
X:47107194 USP11 C>G	X	47107194	47107194	C	G	USP11	c.2628C>G	NM_001371072.1	NP_001358001.1:p.(Ser876=)	NC_000023.10:g.47107194C>G	(Likely) benign	1 lab	dbfc8a371d
16:21136605 DNAH3 C>T	16	21136605	21136605	C	T	DNAH3	c.1208G>A	NM_001347886.2	NP_001334815.1:p.(Arg403Gln)	NC_000016.9:g.21136605C>T	(Likely) benign	1 lab	dbfebe1ec6
X:18221746 BEND2 A>C	X	18221746	18221746	A	C	BEND2	c.782T>G	NM_153346.5	NP_699177.2:p.(Val261Gly)	NC_000023.10:g.18221746A>C	(Likely) benign	1 lab	dbfec61d70
1:176759078 PAPPA2 C>A	1	176759078	176759078	C	A	PAPPA2	c.4849C>A	NM_020318.3	NP_064714.2:p.(Gln1617Lys)	NC_000001.10:g.176759078C>A	(Likely) benign	1 lab	dbff496902
X:114425284 RBMXL3 G>C	X	114425284	114425284	G	C	RBMXL3	c.1280G>C	NM_001145346.2	NP_001138818.1:p.(Arg427Pro)	NC_000023.10:g.114425284G>C	(Likely) benign	1 lab	dbff9a9766
14:50649227 SOS2 C>G	14	50649227	50649227	C	G	SOS2	c.812G>C	NM_006939.4	NP_008870.2:p.(Ser271Thr)	NC_000014.8:g.50649227C>G	VUS	1 lab	dc00bd0477
1:201178984 IGFN1 G>A	1	201178984	201178984	G	A	IGFN1	c.4963G>A	NM_001164586.2	NP_001158058.1:p.(Gly1655Ser)	NC_000001.10:g.201178984G>A	(Likely) benign	1 lab	dc03624f98
14:75515002 MLH3 T>C	14	75515002	75515002	T	C	MLH3	c.1357A>G	NM_001040108.2	NP_001035197.1:p.(Met453Val)	NC_000014.8:g.75515002T>C	VUS	1 lab	dc03d98dbb
9:138660863 KCNT1 C>T	9	138660863	138660863	C	T	KCNT1	c.1510+80C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660863C>T	(Likely) benign	1 lab	2e82118a0f
3:58089794 FLNB G>A	3	58089794	58089794	G	A	FLNB	c.1592G>A	NM_001457.4	NP_001448.2:p.(Gly531Glu)	NC_000003.11:g.58089794G>A	VUS	1 lab	dc066bd539
3:172165502 GHSR GA>G	3	172165502	172165503	GA	G	GHSR	c.701del	NM_198407.2	NP_940799.1:p.(Leu234ProfsTer29)	NC_000003.11:g.172165503del	VUS	1 lab	dc06c1a3a0
15:82564060 SAXO2 A>G	15	82564060	82564060	A	G	SAXO2	c.350A>G	NM_001348699.2	NP_001335628.1:p.(Tyr117Cys)	NC_000015.9:g.82564060A>G	(Likely) benign	1 lab	dc06d047bd
12:112306623 MAPKAPK5 C>T	12	112306623	112306623	C	T	MAPKAPK5	c.351C>T	NM_003668.4	NP_003659.2:p.(His117=)	NC_000012.11:g.112306623C>T	(Likely) benign	1 lab	dc0856f3de
17:79866817 PCYT2 G>A	17	79866817	79866817	G	A	PCYT2	c.275C>T	NM_002861.5	NP_002852.1:p.(Ala92Val)	NC_000017.10:g.79866817G>A	VUS	1 lab	dc08da3ad9
8:103852064 AZIN1 TAAAA>T	8	103852064	103852073	TAAAA	T	AZIN1	c.103-17_103-14del	NM_148174.4	NP_680479.1:p.?	NC_000008.10:g.103852070_103852073del	(Likely) benign	1 lab	2e838aa57e
11:17408819 KCNJ11 C>T	11	17408819	17408819	C	T	KCNJ11	c.820G>A	NM_000525.4	NP_000516.3:p.(Asp274Asn)	NC_000011.9:g.17408819C>T	VUS	1 lab	dc098919a5
2:127811595 BIN1 A>G	2	127811595	127811595	A	G	BIN1	c.1051-7T>C	NM_001320642.1	NP_001307571.1:p.?	NC_000002.11:g.127811595A>G	(Likely) benign	1 lab	2e88101bb6
7:65447164 GUSB G>A	7	65447164	65447164	G	A	GUSB	c.7C>T	NM_000181.4	NP_000172.2:p.(Arg3Trp)	NC_000007.13:g.65447164G>A	VUS	1 lab	dc0b0d722a
13:110959421 COL4A1 G>A	13	110959421	110959421	G	A	COL4A1	c.-47C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110959421G>A	(Likely) benign	1 lab	dc0b4d9eeb
2:64084671 UGP2 A>AT	2	64084671	64084679	A	AT	UGP2	c.148-284dup	NM_006759.4	NP_006750.3:p.?	NC_000002.11:g.64084679dup	(Likely) benign	1 lab	dc0ca3ebed
6:117246746 RFX6 A>T	6	117246746	117246746	A	T	RFX6	c.1809A>T	NM_173560.4	NP_775831.2:p.(Pro603=)	NC_000006.11:g.117246746A>T	(Likely) benign	1 lab	dc0cb186e5
17:80918994 QTGAL C>T	17	80918994	80918994	C	T	QTGAL	c.619G>A	NM_001009905.3	NP_001009905.2:p.(Val207Met)	NC_000017.10:g.80918994C>T	(Likely) benign	1 lab	dc0d00899b
1:171605357 MYOC G>C	1	171605357	171605357	G	C	MYOC	c.1223C>G	NM_000261.2	NP_000252.1:p.(Pro408Arg)	NC_000001.10:g.171605357G>C	VUS	1 lab	dc0e66a57b
3:42572423 VIPR1 G>A	3	42572423	42572423	G	A	VIPR1	c.789G>A	NM_004624.4	NP_004615.2:p.(Trp263Ter)	NC_000003.11:g.42572423G>A	VUS	1 lab	dc0eab84b6
7:151877024 KMT2C G>A	7	151877024	151877024	G	A	KMT2C	c.7337C>T	NM_170606.3	NP_733751.2:p.(Pro2446Leu)	NC_000007.13:g.151877024G>A	VUS	1 lab	dc0fdfe705
15:33873763 RYR3 G>A	15	33873763	33873763	G	A	RYR3	c.1492G>A	NM_001036.6	NP_001027.3:p.(Val498Ile)	NC_000015.9:g.33873763G>A	VUS	1 lab	dc10a51cf3
20:60892545 LAMA5 C>T	20	60892545	60892545	C	T	LAMA5	c.7367G>A	NM_005560.6	NP_005551.3:p.(Arg2456His)	NC_000020.10:g.60892545C>T	(Likely) benign	1 lab	dc12145f80
20:62320839 RTEL1 C>G	20	62320839	62320839	C	G	RTEL1	c.1210-16C>G	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62320839C>G	(Likely) benign	1 lab	2e88ab542b
6:26027442 H4C2 CTTACCCAAACCT>C	6	26027442	26027459	CTTACCCAAACCT	C	H4C2	c.27_38del	NM_003544.3	NP_003535.1:p.(Leu11_Gly14del)	NC_000006.11:g.26027448_26027459del	VUS	1 lab	dc12dcc0f3
9:4125851 GLIS3 C>T	9	4125851	4125851	C	T	GLIS3	c.479G>A	NM_001042413.2	NP_001035878.1:p.(Arg160Gln)	NC_000009.11:g.4125851C>T	VUS	1 lab	dc14233d57
5:14391002 TRIO G>T	5	14391002	14391002	G	T	TRIO	c.4129-8G>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14391002G>T	(Likely) benign	1 lab	dc14b58e12
2:219724789 WNT6 G>GGCT	2	219724789	219724807	G	GGCT	WNT6	c.45_47dup	NM_006522.4	NP_006513.1:p.(Leu17dup)	NC_000002.11:g.219724805_219724807dup	VUS	1 lab	dc14ec6647
10:50690821 ERCC6 G>A	10	50690821	50690821	G	A	ERCC6	c.2081C>T	NM_000124.4	NP_000115.1:p.(Pro694Leu)	NC_000010.10:g.50690821G>A	VUS	1 lab	dc15369197
5:137892551 HSPA9 C>T	5	137892551	137892551	C	T	HSPA9	c.1733G>A	NM_004134.7	NP_004125.3:p.(Arg578Gln)	NC_000005.9:g.137892551C>T	VUS	1 lab	dc165b51fa
19:52569057 ZNF841 C>T	19	52569057	52569057	C	T	ZNF841	c.2078G>A	NM_001136499.2	NP_001129971.1:p.(Ser693Asn)	NC_000019.9:g.52569057C>T	(Likely) benign	1 lab	dc16db2061
6:131921198 MED23 A>G	6	131921198	131921198	A	G	MED23	c.2200T>C	NM_004830.4	NP_004821.2:p.(Cys734Arg)	NC_000006.11:g.131921198A>G	VUS	1 lab	dc1a3ea5dd
6:87971421 ZNF292 G>A	6	87971421	87971421	G	A	ZNF292	c.8074G>A	NM_015021.3	NP_055836.1:p.(Val2692Ile)	NC_000006.11:g.87971421G>A	VUS	1 lab	dc1aee3105
5:11384923 CTNND2 G>C	5	11384923	11384923	G	C	CTNND2	c.1031C>G	NM_001332.4	NP_001323.1:p.(Ser344Trp)	NC_000005.9:g.11384923G>C	VUS	1 lab	dc1b2d1122
14:105615205 JAG2 C>T	14	105615205	105615205	C	T	JAG2	c.1907-10G>A	NM_002226.5	NP_002217.3:p.?	NC_000014.8:g.105615205C>T	(Likely) benign	1 lab	dc1bd3401c
10:19636822 MALRD1 G>A	10	19636822	19636822	G	A	MALRD1	c.4024G>A	NM_001142308.3	NP_001135780.2:p.(Ala1342Thr)	NC_000010.10:g.19636822G>A	(Likely) benign	1 lab	dc1f0c5fba
16:72821806 ZFHX3 T>C	16	72821806	72821806	T	C	ZFHX3	c.10369A>G	NM_006885.4	NP_008816.3:p.(Ile3457Val)	NC_000016.9:g.72821806T>C	VUS	1 lab	dc1f520327
2:54876819 SPTBN1 C>T	2	54876819	54876819	C	T	SPTBN1	c.5270C>T	NM_003128.3	NP_003119.2:p.(Thr1757Met)	NC_000002.11:g.54876819C>T	(Likely) benign	1 lab	dc20e9486a
19:38028726 ZNF793 A>G	19	38028726	38028726	A	G	ZNF793	c.1166A>G	NM_001013659.3	NP_001013681.2:p.(His389Arg)	NC_000019.9:g.38028726A>G	VUS	1 lab	dc2156a476
4:175416693 HPGD C>T	4	175416693	175416693	C	T	HPGD	c.498+6G>A	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175416693C>T	VUS	1 lab	dc21659ce3
3:48508800 TREX1 C>A	3	48508800	48508800	C	A	TREX1	c.746C>A	NM_033629.6	NP_338599.1:p.(Thr249Lys)	NC_000003.11:g.48508800C>A	(Likely) benign	1 lab	dc21cbd605
22:24129357 SMARCB1 A>G	22	24129357	24129357	A	G	SMARCB1	c.1A>G	NM_003073.5	NP_003064.2:p.(Met1?)	NC_000022.10:g.24129357A>G	(Likely) benign	1 lab	dc22b976c8
6:27222897 PRSS16 G>A	6	27222897	27222897	G	A	PRSS16	c.1463G>A	NM_005865.4	NP_005856.1:p.(Arg488His)	NC_000006.11:g.27222897G>A	(Likely) benign	1 lab	dc22babfa0
17:61995195 GH1 C>T	17	61995195	61995195	C	T	GH1	c.381G>A	NM_000515.5	NP_000506.2:p.(Leu127=)	NC_000017.10:g.61995195C>T	(Likely) benign	1 lab	dc22c380bb
15:34040465 RYR3 T>C	15	34040465	34040465	T	C	RYR3	c.8136+4T>C	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34040465T>C	(Likely) benign	1 lab	dc22cfef6a
10:64950782 JMJD1C G>C	10	64950782	64950782	G	C	JMJD1C	c.6163C>G	NM_032776.3	NP_116165.1:p.(Leu2055Val)	NC_000010.10:g.64950782G>C	VUS	1 lab	dc23b09b33
6:33411672 SYNGAP1 A>C	6	33411672	33411672	A	C	SYNGAP1	c.3343A>C	NM_006772.3	NP_006763.2:p.(Ile1115Leu)	NC_000006.11:g.33411672A>C	(Likely) benign	1 lab	dc23fded8b
9:140605432 EHMT1 G>C	9	140605432	140605432	G	C	EHMT1	c.35G>C	NM_024757.5	NP_079033.4:p.(Arg12Thr)	NC_000009.11:g.140605432G>C	(Likely) benign	1 lab	dc244c3813
14:53513658 DDHD1 TC>T	14	53513658	53513660	TC	T	DDHD1	c.2530del	NM_001160148.2	NP_001153620.1:p.(Asp844IlefsTer38)	NC_000014.8:g.53513660del	VUS	1 lab	dc24d56da4
11:125773062 PUS3 T>C	11	125773062	125773062	T	C	PUS3	c.-47+3A>G	NM_031307.4	NP_112597.4:p.?	NC_000011.9:g.125773062T>C	(Likely) benign	1 lab	dc2555c98d
X:15301632 ASB11 G>A	X	15301632	15301632	G	A	ASB11	c.967C>T	NM_080873.3	NP_543149.1:p.(Gln323Ter)	NC_000023.10:g.15301632G>A	VUS	1 lab	dc25b63279
2:230701525 TRIP12 G>C	2	230701525	230701525	G	C	TRIP12	c.1270+39C>G	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230701525G>C	VUS	1 lab	dc279e6628
19:38968515 RYR1 C>T	19	38968515	38968515	C	T	RYR1	c.4454+5C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38968515C>T	(Likely) benign	1 lab	dc2824fc8f
1:27023439 ARID1A C>T	1	27023439	27023439	C	T	ARID1A	c.545C>T	NM_006015.6	NP_006006.3:p.(Ala182Val)	NC_000001.10:g.27023439C>T	VUS	1 lab	dc28d06095
19:2917590 ZNF57 G>A	19	2917590	2917590	G	A	ZNF57	c.971G>A	NM_173480.3	NP_775751.1:p.(Arg324Gln)	NC_000019.9:g.2917590G>A	(Likely) benign	1 lab	dc2ac3f7bf
3:143550898 SLC9A9 T>A	3	143550898	143550898	T	A	SLC9A9	c.341A>T	NM_173653.4	NP_775924.1:p.(Asn114Ile)	NC_000003.11:g.143550898T>A	VUS	1 lab	dc2b232a7c
16:2347886 ABCA3 C>T	16	2347886	2347886	C	T	ABCA3	c.1933G>A	NM_001089.3	NP_001080.2:p.(Val645Ile)	NC_000016.9:g.2347886C>T	VUS	1 lab	dc2e6520a4
17:7345992 FGF11 G>A	17	7345992	7345992	G	A	FGF11	c.488G>A	NM_004112.4	NP_004103.1:p.(Arg163His)	NC_000017.10:g.7345992G>A	VUS	1 lab	dc2f486ed5
1:240371223 FMN2 C>T	1	240371223	240371223	C	T	FMN2	c.3111C>T	NM_020066.5	NP_064450.3:p.(Pro1037=)	NC_000001.10:g.240371223C>T	(Likely) benign	1 lab	dc311fd49d
5:127697463 FBN2 G>A	5	127697463	127697463	G	A	FBN2	c.2507C>T	NM_001999.4	NP_001990.2:p.(Thr836Met)	NC_000005.9:g.127697463G>A	VUS	1 lab	dc31e80fe1
6:22570525 HDGFL1 G>A	6	22570525	22570525	G	A	HDGFL1	c.721G>A	NM_138574.4	NP_612641.2:p.(Glu241Lys)	NC_000006.11:g.22570525G>A	(Likely) benign	1 lab	dc321c14d4
2:152483520 NEB T>C	2	152483520	152483520	T	C	NEB	c.10343A>G	NM_001164508.2	NP_001157980.2:p.(Asn3448Ser)	NC_000002.11:g.152483520T>C	(Likely) benign	1 lab	dc3282115f
19:43579766 PSG2 G>T	19	43579766	43579766	G	T	PSG2	c.449C>A	NM_031246.4	NP_112536.2:p.(Ser150Tyr)	NC_000019.9:g.43579766G>T	VUS	1 lab	dc3284f883
9:139417337 NOTCH1 G>A	9	139417337	139417337	G	A	NOTCH1	c.707C>T	NM_017617.5	NP_060087.3:p.(Thr236Met)	NC_000009.11:g.139417337G>A	VUS	1 lab	dc32ac6d49
2:44547590 SLC3A1 A>G	2	44547590	44547590	A	G	SLC3A1	c.1870A>G	NM_000341.4	NP_000332.2:p.(Thr624Ala)	NC_000002.11:g.44547590A>G	VUS	1 lab	dc32db3bf2
16:15457764 NPIPA5 G>A	16	15457764	15457764	G	A	NPIPA5	c.805C>T	NM_001277325.2	NP_001264254.1:p.(Arg269Cys)	NC_000016.9:g.15457764G>A	(Likely) benign	1 lab	dc33defb2e
10:124184458 PLEKHA1 C>T	10	124184458	124184458	C	T	PLEKHA1	c.793C>T	NM_001001974.4	NP_001001974.1:p.(Arg265Ter)	NC_000010.10:g.124184458C>T	VUS	1 lab	dc3544289b
18:31325922 ASXL3 CACCACCTCCG>C	18	31325922	31325932	CACCACCTCCG	C	ASXL3	c.6111_6120del	NM_030632.3	NP_085135.1:p.(Pro2038TyrfsTer39)	NC_000018.9:g.31325923_31325932del	(Likely) benign	1 lab	dc36d1a4fd
7:92764780 SAMD9L C>G	7	92764780	92764780	C	G	SAMD9L	c.505G>C	NM_152703.5	NP_689916.2:p.(Asp169His)	NC_000007.13:g.92764780C>G	VUS	1 lab	dc3853087d
19:11169014 SMARCA4 A>T	19	11169014	11169014	A	T	SMARCA4	c.4508A>T	NM_003072.5	NP_003063.2:p.(Lys1503Met)	NC_000019.9:g.11169014A>T	(Likely) benign	1 lab	dc38599f82
2:113333240 POLR1B T>C	2	113333240	113333240	T	C	POLR1B	c.3342T>C	NM_019014.6	NP_061887.2:p.(Tyr1114=)	NC_000002.11:g.113333240T>C	(Likely) benign	1 lab	dc3a4e4bea
5:131726454 SLC22A5 C>T	5	131726454	131726454	C	T	SLC22A5	c.1125C>T	NM_003060.4	NP_003051.1:p.(Asn375=)	NC_000005.9:g.131726454C>T	(Likely) benign	1 lab	dc3a64ff34
16:2050392 ZNF598 C>T	16	2050392	2050392	C	T	ZNF598	c.1292G>A	NM_178167.5	NP_835461.2:p.(Gly431Asp)	NC_000016.9:g.2050392C>T	VUS	1 lab	dc3d5d7e71
6:170154037 ERMARD C>CA	6	170154037	170154038	C	CA	ERMARD	c.85dup	NM_018341.3	NP_060811.1:p.(Arg29LysfsTer5)	NC_000006.11:g.170154038dup	VUS	1 lab	dc3d9149d2
3:71485010 FOXP1 G>A	3	71485010	71485010	G	A	FOXP1	c.-168+57567C>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71485010G>A	(Likely) benign	1 lab	dc3efb5216
2:179611156 TTN A>T	2	179611156	179611156	A	T	TTN	c.11312-4508T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611156A>T	VUS	1 lab	dc40c6be37
19:39412040 SARS2 T>TCTCC	19	39412040	39412044	T	TCTCC	SARS2	c.577_580dup	NM_017827.4	NP_060297.1:p.(Asp194GlyfsTer78)	NC_000019.9:g.39412041_39412044dup	VUS	1 lab	dc42adf984
14:103406427 CDC42BPB T>C	14	103406427	103406427	T	C	CDC42BPB	c.4547A>G	NM_006035.4	NP_006026.3:p.(Asn1516Ser)	NC_000014.8:g.103406427T>C	(Likely) benign	1 lab	dc42ccf38f
2:227919414 COL4A4 T>C	2	227919414	227919414	T	C	COL4A4	c.2756A>G	NM_000092.5	NP_000083.3:p.(Glu919Gly)	NC_000002.11:g.227919414T>C	VUS	1 lab	dc42d472a1
20:31376689 DNMT3B C>T	20	31376689	31376689	C	T	DNMT3B	c.684C>T	NM_006892.4	NP_008823.1:p.(Leu228=)	NC_000020.10:g.31376689C>T	(Likely) benign	1 lab	dc4314225d
17:39973374 FKBP10 C>T	17	39973374	39973374	C	T	FKBP10	c.310C>T	NM_021939.4	NP_068758.3:p.(Arg104Ter)	NC_000017.10:g.39973374C>T	(Likely) pathogenic	1 lab	dc43f188b0
2:210690770 UNC80 G>A	2	210690770	210690770	G	A	UNC80	c.2471G>A	NM_001371986.1	NP_001358915.1:p.(Arg824Gln)	NC_000002.11:g.210690770G>A	(Likely) benign	1 lab	dc4404f18c
1:120539612 NOTCH2 C>T	1	120539612	120539612	C	T	NOTCH2	c.751+8G>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120539612C>T	(Likely) benign	1 lab	dc4540dfd6
3:13916579 WNT7A G>A	3	13916579	13916579	G	A	WNT7A	c.163C>T	NM_004625.4	NP_004616.2:p.(Arg55Trp)	NC_000003.11:g.13916579G>A	VUS	1 lab	dc45926c16
3:129185754 IFT122 G>T	3	129185754	129185754	G	T	IFT122	c.585G>T	NM_052989.3	NP_443715.1:p.(Met195Ile)	NC_000003.11:g.129185754G>T	(Likely) benign	1 lab	dc460c2e1d
X:48826512 KCND1 T>G	X	48826512	48826512	T	G	KCND1	c.167A>C	NM_004979.6	NP_004970.3:p.(Asn56Thr)	NC_000023.10:g.48826512T>G	VUS	1 lab	dc47362c40
X:31200848 DMD C>CTTTTT	X	31200848	31200850	C	CTTTTT	DMD	c.9974+6_9974+7insAAAAA	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31200849_31200850insTTTTT	(Likely) benign	1 lab	dc477a74b7
X:24382418 SUPT20HL1 CTGCTGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTG>C	X	24382418	24382453	CTGCTGCTGCTCCTGCTCCTGCTCTAGCTGCTGCTG	C	SUPT20HL1	c.1542_1576del	NM_001136234.3	NP_001129706.3:p.(Ala515CysfsTer54)	NC_000023.10:g.24382419_24382453del	(Likely) benign	1 lab	dc477a8a41
1:28365350 EYA3 T>C	1	28365350	28365350	T	C	EYA3	c.224A>G	NM_001990.4	NP_001981.2:p.(Lys75Arg)	NC_000001.10:g.28365350T>C	VUS	1 lab	dc4845ff6a
11:17491706 ABCC8 G>A	11	17491706	17491706	G	A	ABCC8	c.354C>T	NM_000352.6	NP_000343.2:p.(Val118=)	NC_000011.9:g.17491706G>A	(Likely) benign	1 lab	dc4956ad9b
2:208632076 FZD5 A>G	2	208632076	208632076	A	G	FZD5	c.1388T>C	NM_003468.4	NP_003459.2:p.(Ile463Thr)	NC_000002.11:g.208632076A>G	VUS	1 lab	dc4b14802d
9:139399975 NOTCH1 G>A	9	139399975	139399975	G	A	NOTCH1	c.4373C>T	NM_017617.5	NP_060087.3:p.(Ala1458Val)	NC_000009.11:g.139399975G>A	VUS	1 lab	dc4b3cb050
2:27534799 MPV17 TAACTGCACAGCAG>T	2	27534799	27534812	TAACTGCACAGCAG	T	MPV17	c.416_428del	NM_002437.5	NP_002428.1:p.(Pro139GlnfsTer75)	NC_000002.11:g.27534800_27534812del	(Likely) pathogenic	1 lab	dc4d90f310
13:28498658 PDX1 G>A	13	28498658	28498658	G	A	PDX1	c.672G>A	NM_000209.4	NP_000200.1:p.(Glu224=)	NC_000013.10:g.28498658G>A	(Likely) benign	1 lab	dc4dd1c930
2:152473970 NEB C>A	2	152473970	152473970	C	A	NEB	c.11089G>T	NM_001164508.2	NP_001157980.2:p.(Glu3697Ter)	NC_000002.11:g.152473970C>A	(Likely) benign	1 lab	dc4f06111b
1:44041592 PTPRF A>G	1	44041592	44041592	A	G	PTPRF	c.569-2889A>G	NM_002840.5	NP_002831.2:p.?	NC_000001.10:g.44041592A>G	(Likely) benign	1 lab	dc4f41938f
16:1278919 TPSB2 G>C	16	1278919	1278919	G	C	TPSB2	c.644C>G	NM_024164.6	NP_077078.5:p.(Thr215Ser)	NC_000016.9:g.1278919G>C	(Likely) benign	1 lab	dc50692708
19:41118038 LTBP4 G>A	19	41118038	41118038	G	A	LTBP4	c.2239G>A	NM_001042545.2	NP_001036010.1:p.(Gly747Ser)	NC_000019.9:g.41118038G>A	(Likely) benign	1 lab	dc510c5588
10:88459121 LDB3 T>C	10	88459121	88459121	T	C	LDB3	c.896+6793T>C	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88459121T>C	VUS	1 lab	dc512da562
2:179396674 TTN CAG>C	2	179396674	179396676	CAG	C	TTN	c.104666_104667del	NM_001267550.2	NP_001254479.2:p.(Pro34889ArgfsTer3)	NC_000002.11:g.179396675_179396676del	(Likely) pathogenic	1 lab	d96489917a
2:208989179 CRYGD C>G	2	208989179	208989179	C	G	CRYGD	c.9+10G>C	NM_006891.4	NP_008822.2:p.?	NC_000002.11:g.208989179C>G	(Likely) benign	1 lab	dc5507529d
22:42190477 MEI1 C>T	22	42190477	42190477	C	T	MEI1	c.3530C>T	NM_152513.4	NP_689726.3:p.(Thr1177Ile)	NC_000022.10:g.42190477C>T	VUS	1 lab	dc561a4ab6
2:189867757 COL3A1 T>C	2	189867757	189867757	T	C	COL3A1	c.2522T>C	NM_000090.4	NP_000081.2:p.(Val841Ala)	NC_000002.11:g.189867757T>C	(Likely) benign	1 lab	dc56c5414f
8:145138862 GPAA1 G>A	8	145138862	145138862	G	A	GPAA1	c.535G>A	NM_003801.4	NP_003792.1:p.(Asp179Asn)	NC_000008.10:g.145138862G>A	VUS	1 lab	dc56d12438
6:129513999 LAMA2 G>A	6	129513999	129513999	G	A	LAMA2	c.1782+1G>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129513999G>A	(Likely) pathogenic	1 lab	dc572e4e90
7:73474195 ELN C>T	7	73474195	73474195	C	T	ELN	c.1415-21C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73474195C>T	(Likely) benign	1 lab	dc57315b58
1:147090956 BCL9 C>T	1	147090956	147090956	C	T	BCL9	c.995C>T	NM_004326.4	NP_004317.2:p.(Pro332Leu)	NC_000001.10:g.147090956C>T	(Likely) benign	1 lab	dc5850a6c0
8:144886920 SCRIB C>T	8	144886920	144886920	C	T	SCRIB	c.2827G>A	NM_182706.5	NP_874365.3:p.(Ala943Thr)	NC_000008.10:g.144886920C>T	(Likely) benign	1 lab	dc5917ba53
20:33503033 ACSS2 G>C	20	33503033	33503033	G	C	ACSS2	c.834+793G>C	NM_018677.4	NP_061147.1:p.?	NC_000020.10:g.33503033G>C	VUS	1 lab	dc59206e8d
2:179598124 TTN C>G	2	179598124	179598124	C	G	TTN	c.15896G>C	NM_001267550.2	NP_001254479.2:p.(Arg5299Thr)	NC_000002.11:g.179598124C>G	VUS	1 lab	dc5a2695de
11:118352565 KMT2A G>A	11	118352565	118352565	G	A	KMT2A	c.3770G>A	NM_001197104.2	NP_001184033.1:p.(Ser1257Asn)	NC_000011.9:g.118352565G>A	(Likely) benign	1 lab	dc5a85319b
6:35425688 FANCE C>A	6	35425688	35425688	C	A	FANCE	c.901-5C>A	NM_021922.3	NP_068741.1:p.?	NC_000006.11:g.35425688C>A	(Likely) benign	1 lab	dc5b1e61c6
15:89386898 ACAN T>G	15	89386898	89386898	T	G	ACAN	c.1051+19T>G	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386898T>G	VUS	1 lab	dc5bd03a56
13:113512243 ATP11A C>T	13	113512243	113512243	C	T	ATP11A	c.2521+9C>T	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113512243C>T	(Likely) benign	1 lab	dc5bed21c5
1:7724769 CAMTA1 C>T	1	7724769	7724769	C	T	CAMTA1	c.2162C>T	NM_015215.4	NP_056030.1:p.(Pro721Leu)	NC_000001.10:g.7724769C>T	(Likely) benign	1 lab	dc5ef89520
17:62034755 SCN4A C>G	17	62034755	62034755	C	G	SCN4A	c.2143G>C	NM_000334.4	NP_000325.4:p.(Ala715Pro)	NC_000017.10:g.62034755C>G	(Likely) pathogenic	1 lab	dc5f0c3ab0
3:49147889 USP19 G>A	3	49147889	49147889	G	A	USP19	c.3847C>T	NM_001199161.2	NP_001186090.1:p.(Arg1283Cys)	NC_000003.11:g.49147889G>A	VUS	1 lab	dc5f21a80b
17:78039374 CCDC40 G>A	17	78039374	78039374	G	A	CCDC40	c.1531G>A	NM_017950.4	NP_060420.2:p.(Glu511Lys)	NC_000017.10:g.78039374G>A	(Likely) benign	1 lab	dc5fa569c2
1:151377580 POGZ C>T	1	151377580	151377580	C	T	POGZ	c.3931G>A	NM_015100.4	NP_055915.2:p.(Val1311Ile)	NC_000001.10:g.151377580C>T	(Likely) benign	1 lab	d96491aa80
8:116616861 TRPS1 A>C	8	116616861	116616861	A	C	TRPS1	c.1335T>G	NM_014112.5	NP_054831.2:p.(Ser445Arg)	NC_000008.10:g.116616861A>C	(Likely) benign	1 lab	dc60f02ec8
21:44590749 CRYAA G>C	21	44590749	44590749	G	C	CRYAA	c.312G>C	NM_000394.4	NP_000385.1:p.(Gln104His)	NC_000021.8:g.44590749G>C	(Likely) benign	1 lab	dc60fd05a9
4:83350740 HNRNPDL G>GGCGGCC	4	83350740	83350754	G	GGCGGCC	HNRNPDL	c.98_103dup	NM_031372.4	NP_112740.1:p.(Arg33_Pro34dup)	NC_000004.11:g.83350749_83350754dup	(Likely) benign	1 lab	dc61c04ce2
3:114462628 ZBTB20 T>C	3	114462628	114462628	T	C	ZBTB20	c.-342-50206A>G	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114462628T>C	VUS	1 lab	dc63a81b56
15:77328271 PSTPIP1 GC>G	15	77328271	77328272	GC	G	PSTPIP1	c.1115del	NM_003978.5	NP_003969.2:p.(Ala372GlyfsTer17)	NC_000015.9:g.77328272del	VUS	1 lab	dc656b88df
3:149678862 RNF13 C>T	3	149678862	149678862	C	T	RNF13	c.1117C>T	NM_183381.3	NP_899237.1:p.(Arg373Trp)	NC_000003.11:g.149678862C>T	(Likely) benign	1 lab	dc6749250d
3:50357580 HYAL2 TG>T	3	50357580	50357581	TG	T	HYAL2	c.340del	NM_003773.5	NP_003764.3:p.(Gln114ArgfsTer45)	NC_000003.11:g.50357581del	VUS	1 lab	dc6940ba23
15:99440077 IGF1R A>G	15	99440077	99440077	A	G	IGF1R	c.1045A>G	NM_000875.5	NP_000866.1:p.(Met349Val)	NC_000015.9:g.99440077A>G	VUS	1 lab	dc6a81670f
22:23481133 RSPH14 GAAA>G	22	23481133	23481148	GAAA	G	RSPH14	c.200-7_200-5del	NM_014433.3	NP_055248.1:p.?	NC_000022.10:g.23481146_23481148del	(Likely) benign	1 lab	dc6ad1d42b
X:76939325 ATRX G>C	X	76939325	76939325	G	C	ATRX	c.1423C>G	NM_000489.6	NP_000480.3:p.(His475Asp)	NC_000023.10:g.76939325G>C	VUS	1 lab	dc6b1f4108
4:1803328 FGFR3 C>T	4	1803328	1803328	C	T	FGFR3	c.616-19C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803328C>T	(Likely) benign	1 lab	dc6ba03f64
7:83590941 SEMA3A T>C	7	83590941	83590941	T	C	SEMA3A	c.2062A>G	NM_006080.3	NP_006071.1:p.(Thr688Ala)	NC_000007.13:g.83590941T>C	VUS	1 lab	dc6c9129a5
16:53686549 RPGRIP1L G>A	16	53686549	53686549	G	A	RPGRIP1L	c.2050C>T	NM_015272.5	NP_056087.2:p.(Gln684Ter)	NC_000016.9:g.53686549G>A	(Likely) pathogenic	1 lab	dc6d6d7708
20:60885529 LAMA5 C>T	20	60885529	60885529	C	T	LAMA5	c.10546G>A	NM_005560.6	NP_005551.3:p.(Gly3516Ser)	NC_000020.10:g.60885529C>T	(Likely) benign	1 lab	dc6e57ae8c
3:112724661 RMP64 T>C	3	112724661	112724661	T	C	RMP64	c.1426A>G	NM_015412.4	NP_056227.2:p.(Thr476Ala)	NC_000003.11:g.112724661T>C	(Likely) benign	1 lab	dc71568f2c
11:119145662 CBL A>G	11	119145662	119145662	A	G	CBL	c.868A>G	NM_005188.4	NP_005179.2:p.(Ser290Gly)	NC_000011.9:g.119145662A>G	VUS	1 lab	dc72db48ec
22:42607206 TCF20 G>A	22	42607206	42607206	G	A	TCF20	c.4106C>T	NM_001378418.1	NP_001365347.1:p.(Ser1369Phe)	NC_000022.10:g.42607206G>A	(Likely) benign	1 lab	dc73bdfd6e
4:88964614 PKD2 G>A	4	88964614	88964614	G	A	PKD2	c.1319+5G>A	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88964614G>A	VUS	1 lab	dc74609b9b
17:61396460 TANC2 T>G	17	61396460	61396460	T	G	TANC2	c.1575+9T>G	NM_001394998.1	NP_001381927.1:p.?	NC_000017.10:g.61396460T>G	VUS	1 lab	dc759811a8
16:67608972 CTCF G>T	16	67608972	67608972	G	T	CTCF	c.-10+3805G>T	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67608972G>T	(Likely) benign	1 lab	dc75a64b53
15:64017685 HERC1 C>T	15	64017685	64017685	C	T	HERC1	c.3374G>A	NM_003922.4	NP_003913.3:p.(Gly1125Asp)	NC_000015.9:g.64017685C>T	VUS	1 lab	dc7666acfd
22:26694983 SEZ6L C>G	22	26694983	26694983	C	G	SEZ6L	c.1196C>G	NM_021115.5	NP_066938.2:p.(Pro399Arg)	NC_000022.10:g.26694983C>G	VUS	1 lab	dc77900a52
X:18348748 SCML2 T>G	X	18348748	18348748	T	G	SCML2	c.50A>C	NM_006089.3	NP_006080.1:p.(Gln17Pro)	NC_000023.10:g.18348748T>G	(Likely) benign	1 lab	dc791c0ba0
X:36385133 CFAP47 C>T	X	36385133	36385133	C	T	CFAP47	c.9076C>T	NM_001304548.2	NP_001291477.1:p.(Pro3026Ser)	NC_000023.10:g.36385133C>T	(Likely) benign	1 lab	dc7ac1da30
X:32456510 DMD G>A	X	32456510	32456510	G	A	DMD	c.3922-3C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32456510G>A	VUS	1 lab	dc7bf0a6dd
2:99163042 INPP4A C>T	2	99163042	99163042	C	T	INPP4A	c.1055-7C>T	NM_001134225.2	NP_001127697.1:p.?	NC_000002.11:g.99163042C>T	(Likely) benign	1 lab	dc7d918c99
16:597920 CAPN15 C>CAGCCGAGCGCCCG	16	597920	597921	C	CAGCCGAGCGCCCG	CAPN15	c.1082_1083insAGCCGAGCGCCCG	NM_005632.3	NP_005623.1:p.(Cys363GlufsTer133)	NC_000016.9:g.597920_597921insAGCCGAGCGCCCG	VUS	1 lab	dc7f094582
22:29746081 AP1B1 T>C	22	29746081	29746081	T	C	AP1B1	c.1214A>G	NM_001127.4	NP_001118.3:p.(Tyr405Cys)	NC_000022.10:g.29746081T>C	VUS	1 lab	dc7f0cf23f
14:77493851 IRF2BPL CGCT>C	14	77493851	77493859	CGCT	C	IRF2BPL	c.282_284del	NM_024496.4	NP_078772.1:p.(Ala102del)	NC_000014.8:g.77493857_77493859del	(Likely) benign	1 lab	dc7f3631ed
8:62596603 ASPH A>G	8	62596603	62596603	A	G	ASPH	c.248T>C	NM_004318.4	NP_004309.2:p.(Val83Ala)	NC_000008.10:g.62596603A>G	VUS	1 lab	dfd7b55e3b
16:1575885 IFT140 CACTA>C	16	1575885	1575892	CACTA	C	IFT140	c.2767_2768+2del	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1575889_1575892del	(Likely) pathogenic	1 lab	dc7f97185c
11:406840 SIGIRR C>T	11	406840	406840	C	T	SIGIRR	c.879+3G>A	NM_001135054.2	NP_001128526.1:p.?	NC_000011.9:g.406840C>T	VUS	1 lab	dd0a3b2a44
9:90747245 SPATA31C2 C>T	9	90747245	90747245	C	T	SPATA31C2	c.707G>A	NM_001350978.3	NP_001337907.1:p.(Arg236Gln)	NC_000009.11:g.90747245C>T	(Likely) benign	1 lab	dc80d1a7b7
1:210334274 SYT14 T>A	1	210334274	210334274	T	A	SYT14	c.1612T>A	NM_001146262.4	NP_001139734.1:p.(Trp538Arg)	NC_000001.10:g.210334274T>A	VUS	1 lab	dc8208f5f6
16:81916924 PLCG2 G>A	16	81916924	81916924	G	A	PLCG2	c.743G>A	NM_002661.5	NP_002652.2:p.(Arg248Lys)	NC_000016.9:g.81916924G>A	VUS	1 lab	dc825d4b2f
14:95562998 DICER1 TC>T	14	95562998	95563000	TC	T	DICER1	c.4258del	NM_177438.3	NP_803187.1:p.(Glu1420ArgfsTer8)	NC_000014.8:g.95563000del	VUS	1 lab	dc84489841
X:148628489 EOLA1 C>A	X	148628489	148628489	C	A	EOLA1	c.458C>A	NM_001171907.3	NP_001165378.1:p.(Pro153His)	NC_000023.10:g.148628489C>A	(Likely) benign	1 lab	dc84e67097
17:71208842 VCF1 A>G	17	71208842	71208842	A	G	VCF1	c.359T>C	NM_001098832.2	NP_001092302.1:p.(Leu120Pro)	NC_000017.10:g.71208842A>G	(Likely) benign	1 lab	dc88d696d4
9:79853232 VPS13A G>T	9	79853232	79853232	G	T	VPS13A	c.1830G>T	NM_033305.3	NP_150648.2:p.(Glu610Asp)	NC_000009.11:g.79853232G>T	(Likely) benign	1 lab	dc8a2e58f2
19:14211632 PRKACA G>A	19	14211632	14211632	G	A	PRKACA	c.419+6C>T	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14211632G>A	(Likely) benign	1 lab	dc90f39d11
5:140907258 DIAPH1 G>A	5	140907258	140907258	G	A	DIAPH1	c.3155C>T	NM_005219.5	NP_005210.3:p.(Ala1052Val)	NC_000005.9:g.140907258G>A	(Likely) benign	1 lab	dc920eca74
6:152644622 SYNE1 C>G	6	152644622	152644622	C	G	SYNE1	c.15908G>C	NM_182961.4	NP_892006.3:p.(Arg5303Pro)	NC_000006.11:g.152644622C>G	VUS	1 lab	dc92a5989e
6:30558394 ABCF1 C>G	6	30558394	30558394	C	G	ABCF1	c.2454C>G	NM_001025091.2	NP_001020262.1:p.(Ser818Arg)	NC_000006.11:g.30558394C>G	(Likely) benign	1 lab	dc9347dd81
18:24497155 CHST9 C>T	18	24497155	24497155	C	T	CHST9	c.400G>A	NM_031422.6	NP_113610.2:p.(Glu134Lys)	NC_000018.9:g.24497155C>T	VUS	1 lab	dc93a44d68
9:118949434 PAPPA G>T	9	118949434	118949434	G	T	PAPPA	c.417G>T	NM_002581.5	NP_002572.2:p.(Gly139=)	NC_000009.11:g.118949434G>T	(Likely) benign	1 lab	dc98ad72e8
12:109961846 UBE3B A>G	12	109961846	109961846	A	G	UBE3B	c.2428A>G	NM_130466.4	NP_569733.2:p.(Ser810Gly)	NC_000012.11:g.109961846A>G	(Likely) benign	1 lab	dc9a3d1249
6:132196976 ENPP1 A>C	6	132196976	132196976	A	C	ENPP1	c.1696A>C	NM_006208.3	NP_006199.2:p.(Asn566His)	NC_000006.11:g.132196976A>C	VUS	1 lab	dc9ba752a4
11:27493805 LGR4 C>A	11	27493805	27493805	C	A	LGR4	c.45G>T	NM_018490.5	NP_060960.2:p.(Leu15=)	NC_000011.9:g.27493805C>A	(Likely) benign	1 lab	dc9ba86ed1
6:43006674 CUL7 G>A	6	43006674	43006674	G	A	CUL7	c.4346C>T	NM_014780.5	NP_055595.2:p.(Thr1449Met)	NC_000006.11:g.43006674G>A	VUS	1 lab	dc9c1a4119
2:241810087 AGXT G>C	2	241810087	241810087	G	C	AGXT	c.385G>C	NM_000030.3	NP_000021.1:p.(Asp129His)	NC_000002.11:g.241810087G>C	VUS	1 lab	dc9dde7f1a
1:22149897 HSPG2 G>A	1	22149897	22149897	G	A	HSPG2	c.13088C>T	NM_005529.6	NP_005520.4:p.(Ser4363Leu)	NC_000001.10:g.22149897G>A	(Likely) benign	1 lab	2e9338a165
14:91792325 CCDC88C G>A	14	91792325	91792325	G	A	CCDC88C	c.1126C>T	NM_001080414.4	NP_001073883.2:p.(Arg376Trp)	NC_000014.8:g.91792325G>A	(Likely) benign	1 lab	dca1c9e8d8
1:235973523 LYST C>T	1	235973523	235973523	C	T	LYST	c.595G>A	NM_000081.4	NP_000072.2:p.(Asp199Asn)	NC_000001.10:g.235973523C>T	(Likely) benign	1 lab	dca3c5fe0e
X:118222663 KIAA1210 G>C	X	118222663	118222663	G	C	KIAA1210	c.2002C>G	NM_001394962.1	NP_001381891.1:p.(Pro668Ala)	NC_000023.10:g.118222663G>C	(Likely) benign	1 lab	dca54bcf06
18:24039594 KCTD1 T>C	18	24039594	24039594	T	C	KCTD1	c.2429A>G	NM_001142730.3	NP_001136202.1:p.(Asn810Ser)	NC_000018.9:g.24039594T>C	(Likely) benign	1 lab	dca5b1b0d5
15:89383327 ACAN C>T	15	89383327	89383327	C	T	ACAN	c.539C>T	NM_001369268.1	NP_001356197.1:p.(Ala180Val)	NC_000015.9:g.89383327C>T	VUS	1 lab	dcb133ce41
12:132547098 EP400 AGCAGCAGCAGCAG>A	12	132547098	132547111	AGCAGCAGCAGCAG	A	EP400	c.8187_8199del	NM_015409.5	NP_056224.3:p.(Gln2729HisfsTer44)	NC_000012.11:g.132547099_132547111del	VUS	1 lab	dca79d4350
X:150817141 PASD1 CGCTGCTGCT>C	X	150817141	150817165	CGCTGCTGCT	C	PASD1	c.700_708del	NM_173493.3	NP_775764.2:p.(Ala234_Ala236del)	NC_000023.10:g.150817157_150817165del	VUS	1 lab	dca83eb44f
7:114269949 FOXP2 ACAGCAGCAACAACAG>A	7	114269949	114269978	ACAGCAGCAACAACAG	A	FOXP2	c.501_515del	NM_014491.4	NP_055306.1:p.(Gln187_Gln191del)	NC_000007.13:g.114269964_114269978del	(Likely) benign	1 lab	d96e626ad5
14:68221861 ZFYVE26 T>C	14	68221861	68221861	T	C	ZFYVE26	c.6893A>G	NM_015346.4	NP_056161.2:p.(His2298Arg)	NC_000014.8:g.68221861T>C	VUS	1 lab	dca9322d60
11:118375065 KMT2A G>A	11	118375065	118375065	G	A	KMT2A	c.8458G>A	NM_001197104.2	NP_001184033.1:p.(Asp2820Asn)	NC_000011.9:g.118375065G>A	VUS	1 lab	dca980d3ed
X:79979308 BRWD3 C>A	X	79979308	79979308	C	A	BRWD3	c.1589G>T	NM_153252.5	NP_694984.5:p.(Cys530Phe)	NC_000023.10:g.79979308C>A	(Likely) pathogenic	1 lab	dcaaa9b104
12:56143418 GDF11 G>T	12	56143418	56143418	G	T	GDF11	c.976G>T	NM_005811.5	NP_005802.1:p.(Gly326Cys)	NC_000012.11:g.56143418G>T	VUS	1 lab	dcab92a308
X:17818807 RAI2 A>G	X	17818807	17818807	A	G	RAI2	c.1324T>C	NM_021785.6	NP_068557.4:p.(Ser442Pro)	NC_000023.10:g.17818807A>G	VUS	1 lab	dcaba64366
6:129573334 LAMA2 G>A	6	129573334	129573334	G	A	LAMA2	c.1990G>A	NM_000426.4	NP_000417.3:p.(Gly664Ser)	NC_000006.11:g.129573334G>A	VUS	1 lab	dcabf53486
7:127978400 RBM28 T>C	7	127978400	127978400	T	C	RBM28	c.449-4A>G	NM_018077.3	NP_060547.2:p.?	NC_000007.13:g.127978400T>C	(Likely) benign	1 lab	dcad569da2
12:57626367 SHMT2 G>T	12	57626367	57626367	G	T	SHMT2	c.717+9G>T	NM_005412.6	NP_005403.2:p.?	NC_000012.11:g.57626367G>T	(Likely) benign	1 lab	dcb6e4b119
12:7054961 C12orf57 A>G	12	7054961	7054961	A	G	C12orf57	c.257A>G	NM_138425.4	NP_612434.1:p.(Lys86Arg)	NC_000012.11:g.7054961A>G	VUS	1 lab	dcb82c0282
4:8605882 CPZ G>C	4	8605882	8605882	G	C	CPZ	c.676G>C	NM_001014447.3	NP_001014447.2:p.(Glu226Gln)	NC_000004.11:g.8605882G>C	VUS	1 lab	dcb85791e9
17:29250089 ADAP2 G>A	17	29250089	29250089	G	A	ADAP2	c.225+1G>A	NM_018404.3	NP_060874.1:p.?	NC_000017.10:g.29250089G>A	VUS	1 lab	dcb8847825
4:114280260 ANK2 GAGAGGGAGC>G	4	114280260	114280271	GAGAGGGAGC	G	ANK2	c.10489_10497del	NM_001148.6	NP_001139.3:p.(Arg3497_Gln3499del)	NC_000004.11:g.114280263_114280271del	VUS	1 lab	dcba787817
13:101777029 NALCN G>A	13	101777029	101777029	G	A	NALCN	c.2122C>T	NM_052867.4	NP_443099.1:p.(Arg708Cys)	NC_000013.10:g.101777029G>A	VUS	1 lab	dcba7a3ca1
4:1803251 FGFR3 T>A	4	1803251	1803251	T	A	FGFR3	c.603T>A	NM_000142.5	NP_000133.1:p.(Ile201=)	NC_000004.11:g.1803251T>A	(Likely) benign	1 lab	dcbb897528
20:62365063 ZGPAT C>T	20	62365063	62365063	C	T	ZGPAT	c.843C>T	NM_181485.3	NP_852150.2:p.(Asp281=)	NC_000020.10:g.62365063C>T	VUS	1 lab	dcbbb55341
14:105411722 AHNAK2 G>C	14	105411722	105411722	G	C	AHNAK2	c.10066C>G	NM_138420.4	NP_612429.2:p.(Leu3356Val)	NC_000014.8:g.105411722G>C	(Likely) benign	1 lab	dcbbfefee4
3:122001036 CASR G>T	3	122001036	122001036	G	T	CASR	c.1685G>T	NM_000388.4	NP_000379.3:p.(Cys562Phe)	NC_000003.11:g.122001036G>T	VUS	1 lab	dcbca563ee
7:137801413 AKR1D1 A>C	7	137801413	137801413	A	C	AKR1D1	c.*5A>C	NM_005989.4	NP_005980.1:p.?	NC_000007.13:g.137801413A>C	(Likely) benign	1 lab	d975320da3
3:183368734 KLHL24 A>C	3	183368734	183368734	A	C	KLHL24	c.590A>C	NM_017644.3	NP_060114.2:p.(Asp197Ala)	NC_000003.11:g.183368734A>C	(Likely) benign	1 lab	dcc016b989
19:39008113 RYR1 C>T	19	39008113	39008113	C	T	RYR1	c.9800C>T	NM_000540.3	NP_000531.2:p.(Pro3267Leu)	NC_000019.9:g.39008113C>T	VUS	1 lab	dcc4b471d0
11:33739028 CD59 G>A	11	33739028	33739028	G	A	CD59	c.68-11C>T	NM_000611.6	NP_000602.1:p.?	NC_000011.9:g.33739028G>A	(Likely) benign	1 lab	2e9cd305d9
11:66455747 SPTBN2 CCTCTTT>C	11	66455747	66455760	CCTCTTT	C	SPTBN2	c.6261_6266del	NM_006946.4	NP_008877.2:p.(Lys2088_Arg2089del)	NC_000011.9:g.66455755_66455760del	VUS	1 lab	dcc560cf71
12:7260994 C1RL C>T	12	7260994	7260994	C	T	C1RL	c.153G>A	NM_016546.4	NP_057630.2:p.(Gln51=)	NC_000012.11:g.7260994C>T	(Likely) benign	1 lab	dcc7475c11
19:47884257 DHX34 T>C	19	47884257	47884257	T	C	DHX34	c.3159+8T>C	NM_014681.6	NP_055496.2:p.?	NC_000019.9:g.47884257T>C	(Likely) benign	1 lab	dcc772d5da
9:133233882 HMCN2 G>A	9	133233882	133233882	G	A	HMCN2	c.5677+9G>A	NM_001291815.2	NP_001278744.1:p.?	NC_000009.11:g.133233882G>A	VUS	1 lab	dcc8fad919
19:42795312 CIC G>A	19	42795312	42795312	G	A	CIC	c.5119G>A	NM_001386298.1	NP_001373227.1:p.(Ala1707Thr)	NC_000019.9:g.42795312G>A	VUS	1 lab	dcc98af046
10:135106172 TUBGCP2 C>T	10	135106172	135106172	C	T	TUBGCP2	c.1045G>A	NM_006659.4	NP_006650.1:p.(Glu349Lys)	NC_000010.10:g.135106172C>T	VUS	1 lab	dccb228719
16:2011241 NDUFB10 A>G	16	2011241	2011241	A	G	NDUFB10	c.218A>G	NM_004548.3	NP_004539.1:p.(Glu73Gly)	NC_000016.9:g.2011241A>G	VUS	1 lab	dccbd50f67
6:75862133 COL12A1 C>T	6	75862133	75862133	C	T	COL12A1	c.3631G>A	NM_004370.6	NP_004361.3:p.(Gly1211Ser)	NC_000006.11:g.75862133C>T	VUS	1 lab	dccbf523ed
X:7811288 VCX C>A	X	7811288	7811288	C	A	VCX	c.44C>A	NM_001393662.1	NP_001380591.1:p.(Thr15Lys)	NC_000023.10:g.7811288C>A	(Likely) benign	1 lab	dccdd52ef6
7:107566788 LAMB1 G>C	7	107566788	107566788	G	C	LAMB1	c.4904C>G	NM_002291.3	NP_002282.2:p.(Ala1635Gly)	NC_000007.13:g.107566788G>C	VUS	1 lab	dccee61445
7:48314659 ABCA13 TG>T	7	48314659	48314661	TG	T	ABCA13	c.5398del	NM_152701.5	NP_689914.3:p.(Asp1800IlefsTer5)	NC_000007.13:g.48314661del	VUS	1 lab	dcd06f53c0
1:3806615 C1orf174 G>C	1	3806615	3806615	G	C	C1orf174	c.641C>G	NM_207356.3	NP_997239.2:p.(Ser214Cys)	NC_000001.10:g.3806615G>C	(Likely) benign	1 lab	dcd09f23b8
3:53820862 CACNA1D C>T	3	53820862	53820862	C	T	CACNA1D	c.4806C>T	NM_001128840.3	NP_001122312.1:p.(Thr1602=)	NC_000003.11:g.53820862C>T	VUS	1 lab	dcd0ad8afe
2:210558786 MAP2 C>T	2	210558786	210558786	C	T	MAP2	c.1892C>T	NM_001375505.1	NP_001362434.1:p.(Pro631Leu)	NC_000002.11:g.210558786C>T	VUS	1 lab	dcd2009380
7:107594028 LAMB1 C>CA	7	107594028	107594029	C	CA	LAMB1	c.3025dup	NM_002291.3	NP_002282.2:p.(Cys1009LeufsTer11)	NC_000007.13:g.107594029dup	VUS	1 lab	dcd55070b9
17:73486820 TMEM94 C>T	17	73486820	73486820	C	T	TMEM94	c.1109C>T	NM_014738.6	NP_055553.3:p.(Thr370Met)	NC_000017.10:g.73486820C>T	VUS	1 lab	dcd6693d2a
3:12182156 SYN2 A>G	3	12182156	12182156	A	G	SYN2	c.383A>G	NM_133625.6	NP_598328.1:p.(Lys128Arg)	NC_000003.11:g.12182156A>G	VUS	1 lab	dcd71e30a0
11:116706756 APOA1 C>T	11	116706756	116706756	C	T	APOA1	c.572G>A	NM_000039.3	NP_000030.1:p.(Ser191Asn)	NC_000011.9:g.116706756C>T	VUS	1 lab	dcd7e7c382
2:179516712 TTN C>G	2	179516712	179516712	C	G	TTN	c.39296-18G>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179516712C>G	(Likely) benign	1 lab	2e9d1ab6e7
10:89473078 PAPSS2 A>AAAAAAAAAAAAAG	10	89473078	89473091	A	AAAAAAAAAAAAAG	PAPSS2	c.381+23_381+24insGAAAAAAAAAAAA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473090_89473091insGAAAAAAAAAAAA	(Likely) benign	1 lab	dcdaeab7a3
6:41129048 TREM2 C>T	6	41129048	41129048	C	T	TREM2	c.344G>A	NM_018965.4	NP_061838.1:p.(Gly115Asp)	NC_000006.11:g.41129048C>T	(Likely) benign	1 lab	dcdd9b1781
X:118972382 UPF3B A>T	X	118972382	118972382	A	T	UPF3B	c.955T>A	NM_080632.3	NP_542199.1:p.(Cys319Ser)	NC_000023.10:g.118972382A>T	VUS	1 lab	dcde6bf3bd
2:152709801 CACNB4 A>G	2	152709801	152709801	A	G	CACNB4	c.1014+161T>C	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152709801A>G	(Likely) benign	1 lab	2e9ec975cf
19:11172227 SMARCA4 AT>A	19	11172227	11172233	AT	A	SMARCA4	c.4912-227del	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11172233del	(Likely) benign	1 lab	dce042af80
9:16419198 BNC2 C>T	9	16419198	16419198	C	T	BNC2	c.3089G>A	NM_017637.6	NP_060107.3:p.(Gly1030Glu)	NC_000009.11:g.16419198C>T	(Likely) benign	1 lab	dce0a7f930
1:16377042 CLCNKB G>C	1	16377042	16377042	G	C	CLCNKB	c.1000G>C	NM_000085.5	NP_000076.2:p.(Val334Leu)	NC_000001.10:g.16377042G>C	(Likely) benign	1 lab	dce1f02628
16:89251718 CDH15 G>T	16	89251718	89251718	G	T	CDH15	c.640G>T	NM_004933.3	NP_004924.1:p.(Val214Leu)	NC_000016.9:g.89251718G>T	VUS	1 lab	dce30d225c
X:103041629 PLP1 G>A	X	103041629	103041629	G	A	PLP1	c.427G>A	NM_000533.5	NP_000524.3:p.(Gly143Arg)	NC_000023.10:g.103041629G>A	VUS	1 lab	dce3a3ad92
11:5247910 HBB G>A	11	5247910	5247910	G	A	HBB	c.212C>T	NM_000518.5	NP_000509.1:p.(Ala71Val)	NC_000011.9:g.5247910G>A	VUS	1 lab	dce47e084c
19:56241353 NLRP9 T>C	19	56241353	56241353	T	C	NLRP9	c.1838A>G	NM_176820.4	NP_789790.2:p.(Asn613Ser)	NC_000019.9:g.56241353T>C	VUS	1 lab	dce52ebd8c
14:68944343 RAD51B CT>C	14	68944343	68944357	CT	C	RAD51B	c.1037-8del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68944357del	(Likely) benign	1 lab	dce5380c43
10:17156118 CUBN C>G	10	17156118	17156118	C	G	CUBN	c.791G>C	NM_001081.3	NP_001072.2:p.(Arg264Thr)	NC_000010.10:g.17156118C>G	(Likely) benign	1 lab	2ea1eb8ed7
11:71725144 NUMA1 T>G	11	71725144	71725144	T	G	NUMA1	c.3405A>C	NM_006185.4	NP_006176.2:p.(Gln1135His)	NC_000011.9:g.71725144T>G	(Likely) benign	1 lab	dce6cdc7bc
17:44143977 KANSL1 G>A	17	44143977	44143977	G	A	KANSL1	c.1774C>T	NM_015443.4	NP_056258.1:p.(Arg592Trp)	NC_000017.10:g.44143977G>A	VUS	1 lab	dce70bc370
2:111556183 ACOXL G>A	2	111556183	111556183	G	A	ACOXL	c.346-4G>A	NM_001142807.4	NP_001136279.1:p.?	NC_000002.11:g.111556183G>A	(Likely) benign	1 lab	dce721c155
17:38290542 MSL1 C>CT	17	38290542	38290543	C	CT	MSL1	c.1766dup	NM_001365919.1	NP_001352848.1:p.(Pro590ThrfsTer5)	NC_000017.10:g.38290543dup	VUS	1 lab	dce8e3b6b4
2:26414378 HADHA C>A	2	26414378	26414378	C	A	HADHA	c.2120G>T	NM_000182.5	NP_000173.2:p.(Gly707Val)	NC_000002.11:g.26414378C>A	VUS	1 lab	dce8f5ed2e
19:38939074 RYR1 G>A	19	38939074	38939074	G	A	RYR1	c.880G>A	NM_000540.3	NP_000531.2:p.(Glu294Lys)	NC_000019.9:g.38939074G>A	(Likely) benign	1 lab	dceb8100e7
11:105836721 GRIA4 T>C	11	105836721	105836721	T	C	GRIA4	c.2295-5920T>C	NM_000829.4	NP_000820.4:p.?	NC_000011.9:g.105836721T>C	(Likely) benign	1 lab	dceea7aaa5
2:179444796 TTN A>G	2	179444796	179444796	A	G	TTN	c.67218T>C	NM_001267550.1	NP_001254479.1:p.(Thr22406=)	NC_000002.11:g.179444796A>G	(Likely) benign	1 lab	2ea888551d
19:616370 HCN2 G>A	19	616370	616370	G	A	HCN2	c.2566G>A	NM_001194.4	NP_001185.3:p.(Ala856Thr)	NC_000019.9:g.616370G>A	(Likely) benign	1 lab	dcf134eb25
17:30264432 SUZ12 C>T	17	30264432	30264432	C	T	SUZ12	c.167C>T	NM_015355.4	NP_056170.2:p.(Ser56Phe)	NC_000017.10:g.30264432C>T	VUS	1 lab	dcf1bcd0e9
16:30100487 TBX6 G>A	16	30100487	30100487	G	A	TBX6	c.398C>T	NM_004608.4	NP_004599.2:p.(Pro133Leu)	NC_000016.9:g.30100487G>A	VUS	1 lab	dcf2be9a23
7:138424300 ATP6V0A4 C>T	7	138424300	138424300	C	T	ATP6V0A4	c.1557G>A	NM_020632.3	NP_065683.2:p.(Pro519=)	NC_000007.13:g.138424300C>T	(Likely) benign	1 lab	2eab7f7c5e
22:19750871 TBX1 C>T	22	19750871	19750871	C	T	TBX1	c.539+6C>T	NM_001379200.1	NP_001366129.1:p.?	NC_000022.10:g.19750871C>T	(Likely) benign	1 lab	dcf66d7bf8
4:113568627 LARP7 G>A	4	113568627	113568627	G	A	LARP7	c.919G>A	NM_016648.4	NP_057732.2:p.(Ala307Thr)	NC_000004.11:g.113568627G>A	VUS	1 lab	dcf80adbcd
17:15973749 NCOR1 G>A	17	15973749	15973749	G	A	NCOR1	c.4243C>T	NM_006311.4	NP_006302.2:p.(Arg1415Cys)	NC_000017.10:g.15973749G>A	(Likely) benign	1 lab	dcf83b7850
11:55110770 OR4A16 A>G	11	55110770	55110770	A	G	OR4A16	c.94A>G	NM_001005274.1	NP_001005274.1:p.(Ile32Val)	NC_000011.9:g.55110770A>G	(Likely) benign	1 lab	dcf884501e
1:101458273 DPH5 G>T	1	101458273	101458273	G	T	DPH5	c.554C>A	NM_015958.3	NP_057042.2:p.(Pro185Gln)	NC_000001.10:g.101458273G>T	VUS	1 lab	dcf96983c3
16:30976421 SETD1A GAGA>G	16	30976421	30976429	GAGA	G	SETD1A	c.1364_1366del	NM_014712.3	NP_055527.1:p.(Glu455del)	NC_000016.9:g.30976427_30976429del	(Likely) benign	1 lab	dcfa3ecd91
12:112942616 PTPN11 T>A	12	112942616	112942616	T	A	PTPN11	c.*32+16T>A	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112942616T>A	(Likely) benign	1 lab	dcfa6731c4
15:65108118 PIF1 C>G	15	65108118	65108118	C	G	PIF1	c.*379G>C	NM_001286496.2	NP_001273425.1:p.?	NC_000015.9:g.65108118C>G	(Likely) benign	1 lab	dcfa82c522
3:122003173 CASR C>T	3	122003173	122003173	C	T	CASR	c.2372C>T	NM_000388.4	NP_000379.3:p.(Ala791Val)	NC_000003.11:g.122003173C>T	VUS	1 lab	dcfb735888
13:46543214 ZC3H13 G>C	13	46543214	46543214	G	C	ZC3H13	c.3465C>G	NM_001330564.2	NP_001317493.1:p.(Asp1155Glu)	NC_000013.10:g.46543214G>C	VUS	1 lab	dcfc44832c
7:73279640 TMEM270 GT>G	7	73279640	73279645	GT	G	TMEM270	c.395del	NM_182504.4	NP_872310.2:p.(Leu132CysfsTer7)	NC_000007.13:g.73279645del	VUS	1 lab	dcfc77d1dc
2:179454774 TTN C>T	2	179454774	179454774	C	T	TTN	c.61678G>A	NM_001267550.2	NP_001254479.2:p.(Gly20560Ser)	NC_000002.11:g.179454774C>T	VUS	1 lab	dcfda213b8
1:154148607 TPM3 C>A	1	154148607	154148607	C	A	TPM3	c.361G>T	NM_152263.4	NP_689476.2:p.(Ala121Ser)	NC_000001.10:g.154148607C>A	VUS	1 lab	dcff001044
3:12447410 PPARG G>A	3	12447410	12447410	G	A	PPARG	c.559G>A	NM_138711.6	NP_619725.3:p.(Glu187Lys)	NC_000003.11:g.12447410G>A	VUS	1 lab	dd0ab92ec0
1:12382781 VPS13D A>T	1	12382781	12382781	A	T	VPS13D	c.7893A>T	NM_015378.4	NP_056193.2:p.(Arg2631Ser)	NC_000001.10:g.12382781A>T	(Likely) benign	1 lab	dd01318767
19:42730536 ZNF526 G>A	19	42730536	42730536	G	A	ZNF526	c.1981G>A	NM_133444.3	NP_597701.1:p.(Gly661Arg)	NC_000019.9:g.42730536G>A	(Likely) benign	1 lab	dd01752050
1:145299809 NBPF10 G>A	1	145299809	145299809	G	A	NBPF10	c.858G>A	NM_001302371.3	NP_001289300.1:p.(Met286Ile)	NC_000001.10:g.145299809G>A	(Likely) benign	1 lab	dd01ec0f97
7:50530937 DDC T>C	7	50530937	50530937	T	C	DDC	c.1435A>G	NM_001082971.2	NP_001076440.2:p.(Arg479Gly)	NC_000007.13:g.50530937T>C	(Likely) benign	1 lab	dd03826951
8:126093984 WASHC5 T>C	8	126093984	126093984	T	C	WASHC5	c.437A>G	NM_014846.4	NP_055661.3:p.(Tyr146Cys)	NC_000008.10:g.126093984T>C	VUS	1 lab	dd03838069
1:152278762 FLG A>C	1	152278762	152278762	A	C	FLG	c.8600T>G	NM_002016.2	NP_002007.1:p.(Ile2867Ser)	NC_000001.10:g.152278762A>C	(Likely) benign	1 lab	dd0513dc79
17:40362451 STAT5B T>C	17	40362451	40362451	T	C	STAT5B	c.1745A>G	NM_012448.4	NP_036580.2:p.(Lys582Arg)	NC_000017.10:g.40362451T>C	VUS	1 lab	dd059c73a2
4:79173705 FRAS1 A>T	4	79173705	79173705	A	T	FRAS1	c.469A>T	NM_025074.7	NP_079350.5:p.(Lys157Ter)	NC_000004.11:g.79173705A>T	(Likely) pathogenic	1 lab	dd06a9e3f3
15:42979732 STARD9 C>T	15	42979732	42979732	C	T	STARD9	c.5956C>T	NM_020759.3	NP_065810.2:p.(Arg1986Cys)	NC_000015.9:g.42979732C>T	VUS	1 lab	dd07851086
17:40690424 NAGLU C>T	17	40690424	40690424	C	T	NAGLU	c.599C>T	NM_000263.4	NP_000254.2:p.(Ala200Val)	NC_000017.10:g.40690424C>T	VUS	1 lab	dd07b676a4
6:117248504 RFX6 C>T	6	117248504	117248504	C	T	RFX6	c.2200C>T	NM_173560.4	NP_775831.2:p.(Gln734Ter)	NC_000006.11:g.117248504C>T	(Likely) pathogenic	1 lab	dd07cc80f0
3:151083744 MED12L G>T	3	151083744	151083744	G	T	MED12L	c.3292G>T	NM_001393769.1	NP_001380698.1:p.(Val1098Leu)	NC_000003.11:g.151083744G>T	(Likely) benign	1 lab	dd07e26108
10:85978939 CDHR1 G>A	10	85978939	85978939	G	A	CDHR1	c.2145G>A	NM_001171971.3	NP_001165442.1:p.(Leu715=)	NC_000010.10:g.85978939G>A	(Likely) benign	1 lab	d97c3bdd44
20:61450635 COL9A3 C>T	20	61450635	61450635	C	T	COL9A3	c.245C>T	NM_001853.4	NP_001844.3:p.(Pro82Leu)	NC_000020.10:g.61450635C>T	VUS	1 lab	dd0c8f0227
9:131370158 SPTAN1 G>T	9	131370158	131370158	G	T	SPTAN1	c.4174G>T	NM_001130438.3	NP_001123910.1:p.(Ala1392Ser)	NC_000009.11:g.131370158G>T	VUS	1 lab	dd10c104ca
11:124750503 ROBO3 A>G	11	124750503	124750503	A	G	ROBO3	c.4148A>G	NM_022370.4	NP_071765.2:p.(Glu1383Gly)	NC_000011.9:g.124750503A>G	VUS	1 lab	dd11794a61
6:30692133 TUBB G>A	6	30692133	30692133	G	A	TUBB	c.1294G>A	NM_178014.4	NP_821133.1:p.(Glu432Lys)	NC_000006.11:g.30692133G>A	VUS	1 lab	dd143eff01
1:151774111 LINGO4 C>T	1	151774111	151774111	C	T	LINGO4	c.1070G>A	NM_001004432.4	NP_001004432.1:p.(Gly357Asp)	NC_000001.10:g.151774111C>T	VUS	1 lab	dd1480c7be
12:88505029 CEP290 T>A	12	88505029	88505029	T	A	CEP290	c.2317A>T	NM_025114.4	NP_079390.3:p.(Ser773Cys)	NC_000012.11:g.88505029T>A	VUS	1 lab	dd1489db77
15:65369316 KBTBD13 G>A	15	65369316	65369316	G	A	KBTBD13	c.163G>A	NM_001101362.3	NP_001094832.1:p.(Ala55Thr)	NC_000015.9:g.65369316G>A	(Likely) benign	1 lab	dd15a22ea6
5:37184957 CPLANE1 T>C	5	37184957	37184957	T	C	CPLANE1	c.4414A>G	NM_001384732.1	NP_001371661.1:p.(Ser1472Gly)	NC_000005.9:g.37184957T>C	VUS	1 lab	dd17171a37
6:108985253 FOXO3 G>C	6	108985253	108985253	G	C	FOXO3	c.1217G>C	NM_001455.4	NP_001446.1:p.(Gly406Ala)	NC_000006.11:g.108985253G>C	VUS	1 lab	dd1936f5e0
18:12344204 AFG3L2 T>G	18	12344204	12344204	T	G	AFG3L2	c.1706A>C	NM_006796.3	NP_006787.2:p.(Lys569Thr)	NC_000018.9:g.12344204T>G	VUS	1 lab	dd1a68e972
6:51613145 PKHD1 T>C	6	51613145	51613145	T	C	PKHD1	c.9269A>G	NM_138694.4	NP_619639.3:p.(Asn3090Ser)	NC_000006.11:g.51613145T>C	(Likely) benign	1 lab	dd1ce1bd6a
15:49073549 CEP152 A>C	15	49073549	49073549	A	C	CEP152	c.1421T>G	NM_001194998.2	NP_001181927.1:p.(Leu474Ter)	NC_000015.9:g.49073549A>C	(Likely) pathogenic	1 lab	dd1d4a7f3c
4:57797017 REST G>A	4	57797017	57797017	G	A	REST	c.1993G>A	NM_005612.5	NP_005603.3:p.(Glu665Lys)	NC_000004.11:g.57797017G>A	VUS	1 lab	dd1d8eadf0
16:78420808 WWOX G>A	16	78420808	78420808	G	A	WWOX	c.568G>A	NM_016373.4	NP_057457.1:p.(Val190Met)	NC_000016.9:g.78420808G>A	VUS	1 lab	dd1e727739
13:20577157 ZMYM2 C>T	13	20577157	20577157	C	T	ZMYM2	c.1015C>T	NM_197968.4	NP_932072.1:p.(Gln339Ter)	NC_000013.10:g.20577157C>T	(Likely) pathogenic	1 lab	dd20dc3016
15:89398745 ACAN C>T	15	89398745	89398745	C	T	ACAN	c.2929C>T	NM_001369268.1	NP_001356197.1:p.(Pro977Ser)	NC_000015.9:g.89398745C>T	VUS	1 lab	dd217faed1
16:343545 AXIN1 G>A	16	343545	343545	G	A	AXIN1	c.2129C>T	NM_003502.4	NP_003493.1:p.(Ala710Val)	NC_000016.9:g.343545G>A	(Likely) benign	1 lab	dd2181f35d
3:133661459 SLCO2A1 T>C	3	133661459	133661459	T	C	SLCO2A1	c.1615A>G	NM_005630.3	NP_005621.2:p.(Met539Val)	NC_000003.11:g.133661459T>C	VUS	1 lab	dd23433d14
1:45799074 MUTYH C>T	1	45799074	45799074	C	T	MUTYH	c.264+11G>A	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45799074C>T	(Likely) benign	1 lab	dd257177e0
2:100266129 AFF3 C>T	2	100266129	100266129	C	T	AFF3	c.1144-1G>A	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100266129C>T	VUS	1 lab	dd2580dc92
1:1267495 TAS1R3 C>T	1	1267495	1267495	C	T	TAS1R3	c.584C>T	NM_152228.3	NP_689414.2:p.(Thr195Met)	NC_000001.10:g.1267495C>T	(Likely) benign	1 lab	dd27f21963
X:70389595 NLGN3 G>A	X	70389595	70389595	G	A	NLGN3	c.2195G>A	NM_181303.2	NP_851820.1:p.(Arg732His)	NC_000023.10:g.70389595G>A	VUS	1 lab	dd283b594a
3:47452153 PTPN23 CCAGCCCCATCCT>C	3	47452153	47452177	CCAGCCCCATCCT	C	PTPN23	c.2878_2889del	NM_015466.4	NP_056281.1:p.(Gln960_Pro963del)	NC_000003.11:g.47452166_47452177del	(Likely) benign	1 lab	dd2ba00adf
8:43054644 HGSNAT G>A	8	43054644	43054644	G	A	HGSNAT	c.1840G>A	NM_152419.3	NP_689632.2:p.(Val614Ile)	NC_000008.10:g.43054644G>A	(Likely) benign	1 lab	dd2d74b23f
17:7107367 DLG4 G>A	17	7107367	7107367	G	A	DLG4	c.299C>T	NM_001365.4	NP_001356.1:p.(Thr100Ile)	NC_000017.10:g.7107367G>A	VUS	1 lab	d97ea807c3
1:2338357 PEX10 CTCA>C	1	2338357	2338363	CTCA	C	PEX10	c.601-26_601-24del	NM_002617.4	NP_002608.1:p.?	NC_000001.10:g.2338361_2338363del	(Likely) benign	1 lab	dd2f71cb8d
6:85446925 TBX18 C>G	6	85446925	85446925	C	G	TBX18	c.1302G>C	NM_001080508.3	NP_001073977.1:p.(Leu434Phe)	NC_000006.11:g.85446925C>G	(Likely) benign	1 lab	dd31667819
13:28494528 PDX1 C>T	13	28494528	28494528	C	T	PDX1	c.253C>T	NM_000209.4	NP_000200.1:p.(His85Tyr)	NC_000013.10:g.28494528C>T	VUS	1 lab	dd6e092177
8:116631278 TRPS1 T>C	8	116631278	116631278	T	C	TRPS1	c.966+81A>G	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116631278T>C	(Likely) benign	1 lab	2eb40d8c40
16:81390606 GAN G>C	16	81390606	81390606	G	C	GAN	c.850G>C	NM_022041.4	NP_071324.1:p.(Val284Leu)	NC_000016.9:g.81390606G>C	VUS	1 lab	dd338fd7b1
4:79442694 FRAS1 G>A	4	79442694	79442694	G	A	FRAS1	c.10558G>A	NM_025074.7	NP_079350.5:p.(Val3520Met)	NC_000004.11:g.79442694G>A	VUS	1 lab	dd3519e1c6
17:48433886 XYLT2 C>T	17	48433886	48433886	C	T	XYLT2	c.1497C>T	NM_022167.4	NP_071450.2:p.(Pro499=)	NC_000017.10:g.48433886C>T	(Likely) benign	1 lab	dd37ef2e0b
X:117677501 DOCK11 C>G	X	117677501	117677501	C	G	DOCK11	c.337C>G	NM_144658.4	NP_653259.3:p.(His113Asp)	NC_000023.10:g.117677501C>G	(Likely) benign	1 lab	dd380270a3
12:105508130 WASHC4 A>G	12	105508130	105508130	A	G	WASHC4	c.256-10A>G	NM_015275.3	NP_056090.1:p.?	NC_000012.11:g.105508130A>G	(Likely) benign	1 lab	dd385cdad5
6:169634982 THBS2 AG>A	6	169634982	169634986	AG	A	THBS2	c.1497del	NM_003247.5	NP_003238.2:p.(Trp500GlyfsTer250)	NC_000006.11:g.169634986del	VUS	1 lab	dd386c8ff4
16:79245568 WWOX A>T	16	79245568	79245568	A	T	WWOX	c.1120A>T	NM_016373.4	NP_057457.1:p.(Met374Leu)	NC_000016.9:g.79245568A>T	VUS	1 lab	dd3974fdba
1:151380956 POGZ TGAG>T	1	151380956	151380963	TGAG	T	POGZ	c.2160_2162del	NM_015100.4	NP_055915.2:p.(Ser721del)	NC_000001.10:g.151380961_151380963del	(Likely) benign	1 lab	dd3ae114b0
7:48308603 ABCA13 G>A	7	48308603	48308603	G	A	ABCA13	c.2032G>A	NM_152701.5	NP_689914.3:p.(Glu678Lys)	NC_000007.13:g.48308603G>A	(Likely) benign	1 lab	dd3be827ac
22:51065369 ARSA G>T	22	51065369	51065369	G	T	ARSA	c.577C>A	NM_000487.6	NP_000478.3:p.(Pro193Thr)	NC_000022.10:g.51065369G>T	VUS	1 lab	dd3cf5395d
2:179403302 TTN C>T	2	179403302	179403302	C	T	TTN	c.99254G>A	NM_001267550.2	NP_001254479.2:p.(Arg33085His)	NC_000002.11:g.179403302C>T	(Likely) benign	1 lab	dd3e50f2a1
16:2140897 PKD1 CAGGA>C	16	2140897	2140903	CAGGA	C	PKD1	c.11987_11990del	NM_001009944.3	NP_001009944.3:p.(Phe3996CysfsTer42)	NC_000016.9:g.2140900_2140903del	(Likely) pathogenic	1 lab	dd3e8964b7
19:55089138 LILRA2 G>C	19	55089138	55089138	G	C	LILRA2	c.1255+1562G>C	NM_001130917.3	NP_001124389.2:p.?	NC_000019.9:g.55089138G>C	(Likely) benign	1 lab	dd3eccecd2
1:16890635 NBPF1 C>A	1	16890635	16890635	C	A	NBPF1	c.4918G>T	NM_001405666.3	NP_001392595.1:p.(Asp1640Tyr)	NC_000001.10:g.16890635C>A	(Likely) benign	1 lab	dd3ed3634e
15:51747379 DMXL2 T>A	15	51747379	51747379	T	A	DMXL2	c.8573A>T	NM_001378457.1	NP_001365386.1:p.(Asn2858Ile)	NC_000015.9:g.51747379T>A	VUS	1 lab	dd41cea6b9
X:53272660 IQSEC2 GAGGGAGTAACAC>G	X	53272660	53272677	GAGGGAGTAACAC	G	IQSEC2	c.2750-19_2750-8del	NM_001111125.3	NP_001104595.1:p.?	NC_000023.10:g.53272666_53272677del	(Likely) benign	1 lab	dd427066c4
17:80040781 FASN C>T	17	80040781	80040781	C	T	FASN	c.5767+9G>A	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80040781C>T	(Likely) benign	1 lab	dd428325b6
X:2928139 ARSH T>C	X	2928139	2928139	T	C	ARSH	c.161T>C	NM_001011719.2	NP_001011719.1:p.(Met54Thr)	NC_000023.10:g.2928139T>C	(Likely) benign	1 lab	dd42962e41
X:117032905 KLHL13 G>A	X	117032905	117032905	G	A	KLHL13	c.1886C>T	NM_001168302.2	NP_001161774.1:p.(Ser629Leu)	NC_000023.10:g.117032905G>A	VUS	1 lab	dd44978a1a
19:42880815 MEGF8 G>A	19	42880815	42880815	G	A	MEGF8	c.8426G>A	NM_001271938.2	NP_001258867.1:p.(Arg2809Lys)	NC_000019.9:g.42880815G>A	(Likely) benign	1 lab	dd44c93cc5
15:90210375 PLIN1 C>T	15	90210375	90210375	C	T	PLIN1	c.1001G>A	NM_002666.5	NP_002657.3:p.(Gly334Asp)	NC_000015.9:g.90210375C>T	(Likely) benign	1 lab	dd48d256e0
X:54784045 ITIH6 G>A	X	54784045	54784045	G	A	ITIH6	c.2462C>T	NM_198510.3	NP_940912.1:p.(Pro821Leu)	NC_000023.10:g.54784045G>A	(Likely) benign	1 lab	dd4933bf70
10:124249132 HTRA1 T>C	10	124249132	124249132	T	C	HTRA1	c.767T>C	NM_002775.5	NP_002766.1:p.(Ile256Thr)	NC_000010.10:g.124249132T>C	(Likely) pathogenic	1 lab	dd4a2bec14
19:7126676 INSR A>G	19	7126676	7126676	A	G	INSR	c.2946-14T>C	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7126676A>G	(Likely) benign	1 lab	dd4a3399d8
21:47863780 PCNT G>A	21	47863780	47863780	G	A	PCNT	c.9758G>A	NM_006031.6	NP_006022.3:p.(Arg3253Gln)	NC_000021.8:g.47863780G>A	(Likely) benign	1 lab	dd4a4fbee6
2:241659185 KIF1A A>G	2	241659185	241659185	A	G	KIF1A	c.5021+6T>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241659185A>G	(Likely) benign	1 lab	dd4cf3327b
3:111312687 CD96 C>T	3	111312687	111312687	C	T	CD96	c.808-4280C>T	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111312687C>T	VUS	1 lab	dddfa1f296
19:17063014 CPAMD8 C>T	19	17063014	17063014	C	T	CPAMD8	c.2277-4G>A	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17063014C>T	(Likely) benign	1 lab	dd51280814
17:63533861 AXIN2 G>A	17	63533861	63533861	G	A	AXIN2	c.1293C>T	NM_004655.4	NP_004646.3:p.(Tyr431=)	NC_000017.10:g.63533861G>A	(Likely) benign	1 lab	dd51f90b21
4:159514653 RXFP1 T>C	4	159514653	159514653	T	C	RXFP1	c.286+2T>C	NM_021634.4	NP_067647.2:p.?	NC_000004.11:g.159514653T>C	VUS	1 lab	ddb81aed24
2:197106913 HECW2 T>C	2	197106913	197106913	T	C	HECW2	c.3545A>G	NM_001348768.2	NP_001335697.1:p.(Asn1182Ser)	NC_000002.11:g.197106913T>C	VUS	1 lab	dd54361367
16:2153736 PKD1 CAG>C	16	2153736	2153738	CAG	C	PKD1	c.8320_8321del	NM_001009944.3	NP_001009944.3:p.(Leu2774AspfsTer47)	NC_000016.9:g.2153737_2153738del	(Likely) pathogenic	1 lab	dd5630fa9f
15:72668149 HEXA C>G	15	72668149	72668149	C	G	HEXA	c.165G>C	NM_000520.6	NP_000511.2:p.(Gln55His)	NC_000015.9:g.72668149C>G	VUS	1 lab	dd5980bc86
6:147136207 ADGB C>T	6	147136207	147136207	C	T	ADGB	c.4858C>T	NM_024694.4	NP_078970.3:p.(Arg1620Trp)	NC_000006.11:g.147136207C>T	VUS	1 lab	dd5b8bc327
8:62559409 ASPH AT>A	8	62559409	62559410	AT	A	ASPH	c.518del	NM_004318.4	NP_004309.2:p.(Asp173ValfsTer20)	NC_000008.10:g.62559410del	(Likely) benign	1 lab	dd5ba6ec4b
X:48054223 SSX5 A>T	X	48054223	48054223	A	T	SSX5	c.137T>A	NM_175723.2	NP_783729.1:p.(Ile46Asn)	NC_000023.10:g.48054223A>T	VUS	1 lab	dd5c48d247
19:50100257 PRR12 C>T	19	50100257	50100257	C	T	PRR12	c.2665C>T	NM_020719.3	NP_065770.1:p.(Pro889Ser)	NC_000019.9:g.50100257C>T	VUS	1 lab	dd5d4ce96e
11:6644605 DCHS1 G>A	11	6644605	6644605	G	A	DCHS1	c.8302C>T	NM_003737.4	NP_003728.1:p.(Arg2768Cys)	NC_000011.9:g.6644605G>A	VUS	1 lab	dd5de878f8
3:183882971 DVL3 CAGA>C	3	183882971	183882976	CAGA	C	DVL3	c.673_675del	NM_004423.4	NP_004414.3:p.(Lys225del)	NC_000003.11:g.183882974_183882976del	(Likely) benign	1 lab	dd5e1d364c
7:140434564 BRAF C>CA	7	140434564	140434565	C	CA	BRAF	c.2133_2134insT	NM_004333.6	NP_004324.2:p.(Ala712CysfsTer4)	NC_000007.13:g.140434564_140434565insA	VUS	1 lab	dd5fa7236a
22:26304402 MYO18B A>G	22	26304402	26304402	A	G	MYO18B	c.5259+3A>G	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26304402A>G	VUS	1 lab	de2b5a4e0b
8:145639424 SLC39A4 C>T	8	145639424	145639424	C	T	SLC39A4	c.1205G>A	NM_130849.4	NP_570901.3:p.(Arg402His)	NC_000008.10:g.145639424C>T	(Likely) benign	1 lab	dd605a39cc
4:15569358 CC2D2A C>T	4	15569358	15569358	C	T	CC2D2A	c.3347C>T	NM_001378615.1	NP_001365544.1:p.(Thr1116Met)	NC_000004.11:g.15569358C>T	VUS	1 lab	dd6319c231
11:103041020 DYNC2H1 G>T	11	103041020	103041020	G	T	DYNC2H1	c.5151+1G>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103041020G>T	(Likely) pathogenic	1 lab	dd63880ed4
21:46917566 COL18A1 G>A	21	46917566	46917566	G	A	COL18A1	c.2674G>A	NM_001379500.1	NP_001366429.1:p.(Gly892Arg)	NC_000021.8:g.46917566G>A	VUS	1 lab	dd63fe6a44
7:148543574 EZH2 G>A	7	148543574	148543574	G	A	EZH2	c.234C>T	NM_004456.5	NP_004447.2:p.(Arg78=)	NC_000007.13:g.148543574G>A	(Likely) benign	1 lab	dd65cb7eb4
9:101904918 TGFBR1 G>C	9	101904918	101904918	G	C	TGFBR1	c.906G>C	NM_004612.4	NP_004603.1:p.(Met302Ile)	NC_000009.11:g.101904918G>C	VUS	1 lab	dd660f7c85
18:32455225 DTNA G>A	18	32455225	32455225	G	A	DTNA	c.1526G>A	NM_001198939.2	NP_001185868.1:p.(Arg509His)	NC_000018.9:g.32455225G>A	(Likely) benign	1 lab	2eb593c108
13:111077063 COL4A2 C>A	13	111077063	111077063	C	A	COL4A2	c.181-18C>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077063C>A	VUS	1 lab	dd68aacca6
2:183806893 NCKAP1 T>TA	2	183806893	183806903	T	TA	NCKAP1	c.2602-3dup	NM_013436.5	NP_038464.1:p.?	NC_000002.11:g.183806903dup	(Likely) benign	1 lab	dd68f427c4
6:33152009 COL11A2 G>C	6	33152009	33152009	G	C	COL11A2	c.1032C>G	NM_080680.3	NP_542411.2:p.(Tyr344Ter)	NC_000006.11:g.33152009G>C	(Likely) pathogenic	1 lab	dd6933b394
2:176829095 LNPK T>A	2	176829095	176829095	T	A	LNPK	c.493+5A>T	NM_030650.3	NP_085153.1:p.?	NC_000002.11:g.176829095T>A	(Likely) benign	1 lab	dd69a8e6ef
17:7287546 TNK1 C>T	17	7287546	7287546	C	T	TNK1	c.840C>T	NM_003985.6	NP_003976.2:p.(Gly280=)	NC_000017.10:g.7287546C>T	VUS	1 lab	dd6c3337e6
6:70410682 LMBRD1 A>G	6	70410682	70410682	A	G	LMBRD1	c.1163T>C	NM_018368.4	NP_060838.3:p.(Ile388Thr)	NC_000006.11:g.70410682A>G	VUS	1 lab	dd6cdf430b
16:2161685 PKD1 C>T	16	2161685	2161685	C	T	PKD1	c.3483G>A	NM_001009944.3	NP_001009944.3:p.(Trp1161Ter)	NC_000016.9:g.2161685C>T	(Likely) pathogenic	1 lab	dd6dafa00b
19:48917780 GRIN2D A>G	19	48917780	48917780	A	G	GRIN2D	c.1351A>G	NM_000836.4	NP_000827.2:p.(Ile451Val)	NC_000019.9:g.48917780A>G	VUS	1 lab	dd7074511b
18:20602236 RBBP8 G>A	18	20602236	20602236	G	A	RBBP8	c.2596+3G>A	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20602236G>A	(Likely) benign	1 lab	dd73e40d64
7:106508317 PIK3CG G>C	7	106508317	106508317	G	C	PIK3CG	c.311G>C	NM_001282426.2	NP_001269355.1:p.(Gly104Ala)	NC_000007.13:g.106508317G>C	VUS	1 lab	dd7587a39e
15:89388864 ACAN C>T	15	89388864	89388864	C	T	ACAN	c.1180C>T	NM_001369268.1	NP_001356197.1:p.(Arg394Ter)	NC_000015.9:g.89388864C>T	(Likely) pathogenic	1 lab	dd774a181f
20:57484863 GNAS T>G	20	57484863	57484863	T	G	GNAS	c.839+4T>G	NM_000516.7	NP_000507.1:p.?	NC_000020.10:g.57484863T>G	(Likely) benign	1 lab	dd788a0f8c
7:6548734 GRID2IP G>T	7	6548734	6548734	G	T	GRID2IP	c.1982C>A	NM_001145118.2	NP_001138590.1:p.(Pro661Gln)	NC_000007.13:g.6548734G>T	VUS	1 lab	dd79057835
14:45542703 TOGARAM1 C>T	14	45542703	45542703	C	T	TOGARAM1	c.5261C>T	NM_001308120.2	NP_001295049.1:p.(Pro1754Leu)	NC_000014.8:g.45542703C>T	VUS	1 lab	dd7925b4ab
22:19748694 TBX1 G>T	22	19748694	19748694	G	T	TBX1	c.328G>T	NM_001379200.1	NP_001366129.1:p.(Val110Leu)	NC_000022.10:g.19748694G>T	VUS	1 lab	dd7a68bc0e
7:77973130 MAGI2 T>C	7	77973130	77973130	T	C	MAGI2	c.1373A>G	NM_012301.4	NP_036433.2:p.(Asp458Gly)	NC_000007.13:g.77973130T>C	VUS	1 lab	dd7adfb5f7
7:44185186 GCK C>T	7	44185186	44185186	C	T	GCK	c.1163G>A	NM_000162.5	NP_000153.1:p.(Gly388Asp)	NC_000007.13:g.44185186C>T	(Likely) pathogenic	1 lab	dd7e3cf69c
1:152283821 FLG G>A	1	152283821	152283821	G	A	FLG	c.3541C>T	NM_002016.2	NP_002007.1:p.(His1181Tyr)	NC_000001.10:g.152283821G>A	(Likely) benign	1 lab	dd7ec73951
5:151051160 SPARC G>A	5	151051160	151051160	G	A	SPARC	c.304C>T	NM_003118.4	NP_003109.1:p.(Pro102Ser)	NC_000005.9:g.151051160G>A	VUS	1 lab	dd80e92494
17:10216635 MYH13 G>A	17	10216635	10216635	G	A	MYH13	c.4021C>T	NM_003802.3	NP_003793.2:p.(Arg1341Cys)	NC_000017.10:g.10216635G>A	VUS	1 lab	dd812f8158
3:12961945 IQSEC1 T>C	3	12961945	12961945	T	C	IQSEC1	c.2005A>G	NM_001134382.3	NP_001127854.1:p.(Ile669Val)	NC_000003.11:g.12961945T>C	(Likely) benign	1 lab	dd817c037d
15:93524841 CHD2 G>A	15	93524841	93524841	G	A	CHD2	c.3066+154G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93524841G>A	(Likely) benign	1 lab	2eb5f64b98
8:116632267 TRPS1 G>C	8	116632267	116632267	G	C	TRPS1	c.58C>G	NM_014112.5	NP_054831.2:p.(Pro20Ala)	NC_000008.10:g.116632267G>C	VUS	1 lab	dd8269f9c6
1:6021847 NPHP4 C>A	1	6021847	6021847	C	A	NPHP4	c.673+7G>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6021847C>A	VUS	1 lab	dd8272001b
9:139089553 LHX3 C>T	9	139089553	139089553	C	T	LHX3	c.812G>A	NM_178138.6	NP_835258.1:p.(Gly271Asp)	NC_000009.11:g.139089553C>T	VUS	1 lab	dd830e1a4d
16:2546970 TBC1D24 G>A	16	2546970	2546970	G	A	TBC1D24	c.821G>A	NM_001199107.2	NP_001186036.1:p.(Arg274Lys)	NC_000016.9:g.2546970G>A	(Likely) benign	1 lab	2eb99a2197
12:7046514 ATN1 G>A	12	7046514	7046514	G	A	ATN1	c.2084G>A	NM_001940.4	NP_001931.2:p.(Gly695Glu)	NC_000012.11:g.7046514G>A	(Likely) benign	1 lab	dd84e1850d
5:179275055 MRNIP T>C	5	179275055	179275055	T	C	MRNIP	c.138A>G	NM_016175.4	NP_057259.2:p.(Glu46=)	NC_000005.9:g.179275055T>C	(Likely) benign	1 lab	dd85e97fcb
5:14358293 TRIO A>T	5	14358293	14358293	A	T	TRIO	c.2053A>T	NM_007118.4	NP_009049.2:p.(Thr685Ser)	NC_000005.9:g.14358293A>T	(Likely) benign	1 lab	dd877876bc
3:113505119 ATP6V1A A>G	3	113505119	113505119	A	G	ATP6V1A	c.605A>G	NM_001690.4	NP_001681.2:p.(Lys202Arg)	NC_000003.11:g.113505119A>G	(Likely) benign	1 lab	dd88b40365
5:127627260 FBN2 G>C	5	127627260	127627260	G	C	FBN2	c.6253C>G	NM_001999.4	NP_001990.2:p.(Pro2085Ala)	NC_000005.9:g.127627260G>C	(Likely) benign	1 lab	dd8c8eeb73
2:179592933 TTN C>T	2	179592933	179592933	C	T	TTN	c.19618G>A	NM_001267550.2	NP_001254479.2:p.(Val6540Ile)	NC_000002.11:g.179592933C>T	VUS	1 lab	dd8d1f5423
14:50251990 NEMF G>A	14	50251990	50251990	G	A	NEMF	c.2977C>T	NM_004713.6	NP_004704.3:p.(Leu993=)	NC_000014.8:g.50251990G>A	(Likely) benign	1 lab	dd8d905630
17:73498543 CASKIN2 G>A	17	73498543	73498543	G	A	CASKIN2	c.2612C>T	NM_020753.5	NP_065804.2:p.(Pro871Leu)	NC_000017.10:g.73498543G>A	VUS	1 lab	dd8fc9d708
2:179615029 TTN A>G	2	179615029	179615029	A	G	TTN	c.11311+2822T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615029A>G	(Likely) benign	1 lab	dd900b4903
8:1833871 ARHGEF10 C>T	8	1833871	1833871	C	T	ARHGEF10	c.1180C>T	NM_014629.4	NP_055444.2:p.(Gln394Ter)	NC_000008.10:g.1833871C>T	VUS	1 lab	dd91108151
1:39824873 MACF1 C>T	1	39824873	39824873	C	T	MACF1	c.12181C>T	NM_001394062.1	NP_001380991.1:p.(Arg4061Cys)	NC_000001.10:g.39824873C>T	(Likely) benign	1 lab	dd9171e61c
17:48172800 PDK2 A>C	17	48172800	48172800	A	C	PDK2	c.1A>C	NM_002611.5	NP_002602.2:p.(Met1?)	NC_000017.10:g.48172800A>C	VUS	1 lab	dd92926e7b
21:47406606 COL6A1 A>G	21	47406606	47406606	A	G	COL6A1	c.588+7A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47406606A>G	VUS	1 lab	dd938c0bfa
Y:22918742 RPS4Y2 G>C	Y	22918742	22918742	G	C	RPS4Y2	c.81+1G>C	NM_001039567.3	NP_001034656.1:p.?	NC_000024.9:g.22918742G>C	VUS	1 lab	dd9435b448
15:33955159 RYR3 A>G	15	33955159	33955159	A	G	RYR3	c.5418+10A>G	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.33955159A>G	(Likely) benign	1 lab	dd949a4e44
13:30829755 KATNAL1 G>T	13	30829755	30829755	G	T	KATNAL1	c.324-3C>A	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829755G>T	VUS	1 lab	dd953158ed
14:92409677 FBLN5 AC>A	14	92409677	92409681	AC	A	FBLN5	c.18-373del	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92409681del	(Likely) benign	1 lab	dd9599b852
9:95279970 CENPP A>G	9	95279970	95279970	A	G	CENPP	c.565-93626A>G	NM_001012267.3	NP_001012267.1:p.?	NC_000009.11:g.95279970A>G	VUS	1 lab	dd95f98e03
3:124462816 UMPS G>T	3	124462816	124462816	G	T	UMPS	c.1328G>T	NM_000373.4	NP_000364.1:p.(Gly443Val)	NC_000003.11:g.124462816G>T	VUS	1 lab	dd97d6243c
3:166960374 ZBBX T>C	3	166960374	166960374	T	C	ZBBX	c.2312A>G	NM_001199201.2	NP_001186130.1:p.(Gln771Arg)	NC_000003.11:g.166960374T>C	(Likely) benign	1 lab	dd9a0c2341
19:7152887 INSR G>A	19	7152887	7152887	G	A	INSR	c.2081C>T	NM_000208.4	NP_000199.2:p.(Ser694Phe)	NC_000019.9:g.7152887G>A	(Likely) benign	1 lab	dd9baa48e4
2:71778735 DYSF A>AG	2	71778735	71778740	A	AG	DYSF	c.1696dup	NM_001130987.2	NP_001124459.1:p.(Glu566GlyfsTer22)	NC_000002.11:g.71778740dup	(Likely) pathogenic	1 lab	dd9bd4c817
10:73765747 CHST3 G>A	10	73765747	73765747	G	A	CHST3	c.140+7G>A	NM_004273.5	NP_004264.2:p.?	NC_000010.10:g.73765747G>A	(Likely) benign	1 lab	dd9e2f3432
14:35470230 SRP54 A>C	14	35470230	35470230	A	C	SRP54	c.255+4A>C	NM_003136.4	NP_003127.1:p.?	NC_000014.8:g.35470230A>C	VUS	1 lab	dda27806d7
X:53566726 HUWE1 G>A	X	53566726	53566726	G	A	HUWE1	c.11524C>T	NM_031407.7	NP_113584.3:p.(Pro3842Ser)	NC_000023.10:g.53566726G>A	VUS	1 lab	dda2c32e43
14:74947375 NPC2 C>T	14	74947375	74947375	C	T	NPC2	c.441+30G>A	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74947375C>T	VUS	1 lab	dda4b637da
X:69247715 EDA GCAGGACCTCCTGGACCCAATGGCCCTC>G	X	69247715	69247749	GCAGGACCTCCTGGACCCAATGGCCCTC	G	EDA	c.543_569del	NM_001399.5	NP_001390.1:p.(Asn185_Pro193del)	NC_000023.10:g.69247723_69247749del	(Likely) pathogenic	1 lab	d980498829
6:33282893 ZBTB22 C>A	6	33282893	33282893	C	A	ZBTB22	c.1801G>T	NM_005453.5	NP_005444.4:p.(Asp601Tyr)	NC_000006.11:g.33282893C>A	VUS	1 lab	dda75ec09c
4:6279296 WFS1 C>T	4	6279296	6279296	C	T	WFS1	c.114C>T	NM_006005.3	NP_005996.2:p.(Ser38=)	NC_000004.11:g.6279296C>T	(Likely) benign	1 lab	dda967a4ec
17:65337732 PSMD12 A>ACTG	17	65337732	65337738	A	ACTG	PSMD12	c.1161+567_1162-565dup	NM_002816.5	NP_002807.1:p.?	NC_000017.10:g.65337736_65337738dup	(Likely) benign	1 lab	dda9e533dd
4:15005757 CPEB2 GCTT>G	4	15005757	15005761	GCTT	G	CPEB2	c.1462_1464del	NM_001177382.2	NP_001170853.1:p.(Phe488del)	NC_000004.11:g.15005759_15005761del	(Likely) benign	1 lab	ddaa031035
20:18511371 SEC23B A>G	20	18511371	18511371	A	G	SEC23B	c.1157A>G	NM_006363.6	NP_006354.2:p.(Gln386Arg)	NC_000020.10:g.18511371A>G	VUS	1 lab	ddab03ef23
21:47545507 COL6A2 G>A	21	47545507	47545507	G	A	COL6A2	c.1945G>A	NM_001849.4	NP_001840.3:p.(Ala649Thr)	NC_000021.8:g.47545507G>A	(Likely) benign	1 lab	ddac4cc83c
1:24664239 GRHL3 C>G	1	24664239	24664239	C	G	GRHL3	c.800C>G	NM_198173.3	NP_937816.1:p.(Ala267Gly)	NC_000001.10:g.24664239C>G	(Likely) benign	1 lab	ddacac0589
5:149753832 TCOF1 G>T	5	149753832	149753832	G	T	TCOF1	c.966G>T	NM_001371623.1	NP_001358552.1:p.(Lys322Asn)	NC_000005.9:g.149753832G>T	VUS	1 lab	ddb1e0ec25
2:170147367 LRP2 C>T	2	170147367	170147367	C	T	LRP2	c.910G>A	NM_004525.3	NP_004516.2:p.(Gly304Arg)	NC_000002.11:g.170147367C>T	VUS	1 lab	ddb35f95a8
5:36985689 NIPBL C>G	5	36985689	36985689	C	G	NIPBL	c.2407C>G	NM_133433.4	NP_597677.2:p.(Gln803Glu)	NC_000005.9:g.36985689C>G	(Likely) benign	1 lab	ddb4953558
3:49138870 QARS1 C>T	3	49138870	49138870	C	T	QARS1	c.794G>A	NM_005051.3	NP_005042.1:p.(Arg265His)	NC_000003.11:g.49138870C>T	VUS	1 lab	ddb5643173
4:177046455 WDR17 G>A	4	177046455	177046455	G	A	WDR17	c.739G>A	NM_181265.4	NP_851782.3:p.(Val247Ile)	NC_000004.11:g.177046455G>A	VUS	1 lab	ddb5d514e6
3:49698715 BSN G>A	3	49698715	49698715	G	A	BSN	c.9437G>A	NM_003458.4	NP_003449.2:p.(Arg3146His)	NC_000003.11:g.49698715G>A	VUS	1 lab	de4ec9bf59
3:151107838 MED12L T>A	3	151107838	151107838	T	A	MED12L	c.5523T>A	NM_001393769.1	NP_001380698.1:p.(His1841Gln)	NC_000003.11:g.151107838T>A	(Likely) benign	1 lab	ddb602a59e
2:48060197 FBXO11 A>C	2	48060197	48060197	A	C	FBXO11	c.947T>G	NM_001190274.2	NP_001177203.1:p.(Val316Gly)	NC_000002.11:g.48060197A>C	VUS	1 lab	d9806d8c92
6:129637246 LAMA2 T>C	6	129637246	129637246	T	C	LAMA2	c.3988T>C	NM_000426.4	NP_000417.3:p.(Leu1330=)	NC_000006.11:g.129637246T>C	(Likely) benign	1 lab	ddb8e53657
10:129904431 MKI67 T>G	10	129904431	129904431	T	G	MKI67	c.5673A>C	NM_002417.5	NP_002408.3:p.(Leu1891Phe)	NC_000010.10:g.129904431T>G	VUS	1 lab	ddb9ecedea
2:208030431 KLF7 C>A	2	208030431	208030431	C	A	KLF7	c.-139G>T	NM_003709.4	NP_003700.1:p.?	NC_000002.11:g.208030431C>A	VUS	1 lab	ddbbf22f63
7:56170560 CHCHD2 C>T	7	56170560	56170560	C	T	CHCHD2	c.445G>A	NM_016139.4	NP_057223.1:p.(Gly149Arg)	NC_000007.13:g.56170560C>T	(Likely) benign	1 lab	ddbdf3d848
9:124079515 GSN G>T	9	124079515	124079515	G	T	GSN	c.886+19G>T	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124079515G>T	(Likely) benign	1 lab	ddbf707803
15:99456264 IGF1R G>A	15	99456264	99456264	G	A	IGF1R	c.1590-9G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99456264G>A	(Likely) benign	1 lab	ddc13968bd
4:1803486 FGFR3 C>G	4	1803486	1803486	C	G	FGFR3	c.739+16C>G	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803486C>G	(Likely) benign	1 lab	ddc1e0e2c5
15:90168628 TICRR C>T	15	90168628	90168628	C	T	TICRR	c.5087C>T	NM_152259.4	NP_689472.3:p.(Ala1696Val)	NC_000015.9:g.90168628C>T	VUS	1 lab	ddc230a2ad
20:60893635 LAMA5 C>T	20	60893635	60893635	C	T	LAMA5	c.7114G>A	NM_005560.6	NP_005551.3:p.(Asp2372Asn)	NC_000020.10:g.60893635C>T	(Likely) benign	1 lab	ddc357fb2b
1:60299152 HOOK1 C>T	1	60299152	60299152	C	T	HOOK1	c.349C>T	NM_015888.6	NP_056972.1:p.(Leu117Phe)	NC_000001.10:g.60299152C>T	(Likely) benign	1 lab	ddc3a390a3
2:225434466 CUL3 TGAAAA>T	2	225434466	225434474	TGAAAA	T	CUL3	c.67-11898_67-11894del	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225434470_225434474del	(Likely) benign	1 lab	ddc3d18143
X:26212760 MAGEB6 G>A	X	26212760	26212760	G	A	MAGEB6	c.797G>A	NM_173523.2	NP_775794.2:p.(Ser266Asn)	NC_000023.10:g.26212760G>A	VUS	1 lab	ddc5cf9d87
1:40769495 COL9A2 G>A	1	40769495	40769495	G	A	COL9A2	c.1385C>T	NM_001852.4	NP_001843.1:p.(Pro462Leu)	NC_000001.10:g.40769495G>A	VUS	1 lab	ddc7422da8
2:47637525 MSH2 G>A	2	47637525	47637525	G	A	MSH2	c.645+14G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47637525G>A	(Likely) benign	1 lab	ddc7c44544
2:217340010 SMARCAL1 A>G	2	217340010	217340010	A	G	SMARCAL1	c.2263A>G	NM_014140.4	NP_054859.2:p.(Ile755Val)	NC_000002.11:g.217340010A>G	VUS	1 lab	ddc91b03db
10:27827004 RAB18 C>T	10	27827004	27827004	C	T	RAB18	c.*24C>T	NM_021252.5	NP_067075.1:p.?	NC_000010.10:g.27827004C>T	VUS	1 lab	ddc93a6fa7
2:145161705 ZEB2 C>T	2	145161705	145161705	C	T	ZEB2	c.593-8G>A	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145161705C>T	(Likely) benign	1 lab	ddc9569e50
2:210745681 UNC80 C>A	2	210745681	210745681	C	A	UNC80	c.3983-4C>A	NM_032504.1	NP_115893.1:p.?	NC_000002.11:g.210745681C>A	(Likely) benign	1 lab	2ec75d752c
14:24780745 LTB4R C>T	14	24780745	24780745	C	T	LTB4R	c.-281C>T	NM_001143919.3	NP_001137391.1:p.?	NC_000014.8:g.24780745C>T	VUS	1 lab	ddcaffde73
3:169587423 LRRC31 G>A	3	169587423	169587423	G	A	LRRC31	c.173C>T	NM_024727.4	NP_079003.2:p.(Thr58Ile)	NC_000003.11:g.169587423G>A	(Likely) benign	1 lab	ddcc37a79d
10:79589103 DLG5 G>C	10	79589103	79589103	G	C	DLG5	c.2185+10C>G	NM_004747.4	NP_004738.3:p.?	NC_000010.10:g.79589103G>C	(Likely) benign	1 lab	ddcca0d100
6:157469804 ARID1B C>CT	6	157469804	157469805	C	CT	ARID1B	c.2809dup	NM_001374828.1	NP_001361757.1:p.(Tyr937LeufsTer75)	NC_000006.11:g.157469805dup	(Likely) pathogenic	1 lab	ddcd0f4485
18:25570188 CDH2 C>G	18	25570188	25570188	C	G	CDH2	c.1471G>C	NM_001792.5	NP_001783.2:p.(Val491Leu)	NC_000018.9:g.25570188C>G	VUS	1 lab	ddcd3daf95
19:49657619 HRC G>T	19	49657619	49657619	G	T	HRC	c.876C>A	NM_002152.3	NP_002143.1:p.(Asp292Glu)	NC_000019.9:g.49657619G>T	VUS	1 lab	ddcd8383fb
20:4893573 SLC23A2 T>TG	20	4893573	4893574	T	TG	SLC23A2	c.159dup	NM_005116.6	NP_005107.4:p.(Thr54HisfsTer2)	NC_000020.10:g.4893574dup	(Likely) benign	1 lab	ddcd88e469
2:179611245 TTN A>C	2	179611245	179611245	A	C	TTN	c.11312-4597T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611245A>C	VUS	1 lab	ddce1d2bff
4:77662342 SHROOM3 G>A	4	77662342	77662342	G	A	SHROOM3	c.3016G>A	NM_020859.4	NP_065910.3:p.(Gly1006Ser)	NC_000004.11:g.77662342G>A	VUS	1 lab	ddd0c498f9
7:50571757 DDC T>C	7	50571757	50571757	T	C	DDC	c.715A>G	NM_001082971.2	NP_001076440.2:p.(Met239Val)	NC_000007.13:g.50571757T>C	VUS	1 lab	ddd25008ad
19:41354538 CYP2A6 G>C	19	41354538	41354538	G	C	CYP2A6	c.474C>G	NM_000762.6	NP_000753.3:p.(Asp158Glu)	NC_000019.9:g.41354538G>C	(Likely) benign	1 lab	ddd271e584
5:149769455 TCOF1 A>G	5	149769455	149769455	A	G	TCOF1	c.3052A>G	NM_001371623.1	NP_001358552.1:p.(Arg1018Gly)	NC_000005.9:g.149769455A>G	VUS	1 lab	ddd2abc7be
18:21124312 NPC1 T>A	18	21124312	21124312	T	A	NPC1	c.2126A>T	NM_000271.5	NP_000262.2:p.(Tyr709Phe)	NC_000018.9:g.21124312T>A	VUS	1 lab	ddd3783436
7:69643074 AUTS2 G>A	7	69643074	69643074	G	A	AUTS2	c.660+43517G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69643074G>A	(Likely) benign	1 lab	dddc755f8c
19:18897106 COMP G>A	19	18897106	18897106	G	A	COMP	c.1255-5C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18897106G>A	(Likely) benign	1 lab	dddc7a5c76
10:112660191 BBIP1 A>AT	10	112660191	112660195	A	AT	BBIP1	c.205dup	NM_001195305.3	NP_001182234.1:p.(Met69AsnfsTer29)	NC_000010.10:g.112660195dup	VUS	1 lab	dddcade68b
7:749008 PRKAR1B CTT>C	7	749008	749027	CTT	C	PRKAR1B	c.177+1956_177+1957del	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.749026_749027del	(Likely) benign	1 lab	dddcf054a4
15:41857258 TYRO3 A>G	15	41857258	41857258	A	G	TYRO3	c.702A>G	NM_006293.4	NP_006284.2:p.(Thr234=)	NC_000015.9:g.41857258A>G	(Likely) benign	1 lab	dddd4cd4fb
17:18233972 SHMT1 G>T	17	18233972	18233972	G	T	SHMT1	c.1068C>A	NM_004169.5	NP_004160.3:p.(Asn356Lys)	NC_000017.10:g.18233972G>T	VUS	1 lab	ddef2d9b6a
6:45390433 RUNX2 GCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAA>G	6	45390433	45390477	GCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAA	G	RUNX2	c.174_206del	NM_001024630.4	NP_001019801.3:p.(Gln61_Gln71del)	NC_000006.11:g.45390445_45390477del	(Likely) benign	1 lab	ddde54d2f9
17:42824484 DBF4B AGC>A	17	42824484	42824486	AGC	A	DBF4B	c.865_866del	NM_145663.3	NP_663696.1:p.(Ala289CysfsTer74)	NC_000017.10:g.42824485_42824486del	VUS	1 lab	dddee59734
6:49419215 MMUT T>G	6	49419215	49419215	T	G	MMUT	c.1296A>C	NM_000255.4	NP_000246.2:p.(Glu432Asp)	NC_000006.11:g.49419215T>G	VUS	1 lab	dddf0ae2b3
20:62038419 KCNQ2 C>T	20	62038419	62038419	C	T	KCNQ2	c.2197G>A	NM_172107.4	NP_742105.1:p.(Val733Met)	NC_000020.10:g.62038419C>T	VUS	1 lab	dde02a62ca
6:33400521 SYNGAP1 A>G	6	33400521	33400521	A	G	SYNGAP1	c.447A>G	NM_006772.3	NP_006763.2:p.(Lys149=)	NC_000006.11:g.33400521A>G	(Likely) benign	1 lab	2ec9f599c1
6:133849911 EYA4 C>G	6	133849911	133849911	C	G	EYA4	c.1888C>G	NM_004100.5	NP_004091.3:p.(Leu630Val)	NC_000006.11:g.133849911C>G	VUS	1 lab	2eca585ac1
16:89371622 ANKRD11 G>A	16	89371622	89371622	G	A	ANKRD11	c.218C>T	NM_013275.6	NP_037407.4:p.(Ser73Leu)	NC_000016.9:g.89371622G>A	VUS	1 lab	dde175503a
12:120884481 GATC G>A	12	120884481	120884481	G	A	GATC	c.103G>A	NM_176818.3	NP_789788.1:p.(Ala35Thr)	NC_000012.11:g.120884481G>A	(Likely) benign	1 lab	dde1a01197
2:32340795 SPAST A>C	2	32340795	32340795	A	C	SPAST	c.895A>C	NM_014946.4	NP_055761.2:p.(Asn299His)	NC_000002.11:g.32340795A>C	(Likely) benign	1 lab	dde2f55b88
17:61995856 GH1 C>T	17	61995856	61995856	C	T	GH1	c.21G>A	NM_000515.5	NP_000506.2:p.(Thr7=)	NC_000017.10:g.61995856C>T	(Likely) benign	1 lab	dde5464943
11:71903239 FOLR1 C>A	11	71903239	71903239	C	A	FOLR1	c.22C>A	NM_016729.3	NP_057941.1:p.(Gln8Lys)	NC_000011.9:g.71903239C>A	VUS	1 lab	dde59c8c2d
1:184692924 EDEM3 C>G	1	184692924	184692924	C	G	EDEM3	c.814G>C	NM_025191.4	NP_079467.3:p.(Val272Leu)	NC_000001.10:g.184692924C>G	(Likely) benign	1 lab	dde7269572
3:129291575 PLXND1 G>A	3	129291575	129291575	G	A	PLXND1	c.2954C>T	NM_015103.3	NP_055918.3:p.(Ser985Phe)	NC_000003.11:g.129291575G>A	VUS	1 lab	dde75e4f88
2:219920439 IHH A>G	2	219920439	219920439	A	G	IHH	c.726T>C	NM_002181.4	NP_002172.2:p.(Asp242=)	NC_000002.11:g.219920439A>G	(Likely) benign	1 lab	dde85db053
9:94486479 ROR2 T>C	9	94486479	94486479	T	C	ROR2	c.2297A>G	NM_004560.4	NP_004551.2:p.(Asn766Ser)	NC_000009.11:g.94486479T>C	VUS	1 lab	ddeb37ea7d
19:54725824 LILRB3 C>G	19	54725824	54725824	C	G	LILRB3	c.1310-2710G>C	NM_006864.4	NP_006855.3:p.?	NC_000019.9:g.54725824C>G	(Likely) benign	1 lab	ddef9a766c
2:55200691 RTN4 ATACT>A	2	55200691	55200701	ATACT	A	RTN4	c.3536+4_3536+7del	NM_020532.5	NP_065393.1:p.?	NC_000002.11:g.55200698_55200701del	VUS	1 lab	ddf0f413ca
X:30268645 MAGEB1 G>A	X	30268645	30268645	G	A	MAGEB1	c.35G>A	NM_177404.3	NP_796379.1:p.(Arg12His)	NC_000023.10:g.30268645G>A	(Likely) benign	1 lab	ddf21d878a
3:12475588 PPARG G>A	3	12475588	12475588	G	A	PPARG	c.1372G>A	NM_138711.6	NP_619725.3:p.(Glu458Lys)	NC_000003.11:g.12475588G>A	VUS	1 lab	ddf273083f
1:147381243 GJA8 G>T	1	147381243	147381243	G	T	GJA8	c.1161G>T	NM_005267.5	NP_005258.2:p.(Gln387His)	NC_000001.10:g.147381243G>T	(Likely) benign	1 lab	ddf2ee936c
1:160461117 SLAMF6 C>G	1	160461117	160461117	C	G	SLAMF6	c.444G>C	NM_001184714.2	NP_001171643.1:p.(Glu148Asp)	NC_000001.10:g.160461117C>G	(Likely) benign	1 lab	ddf3b5cf45
X:154722045 TMLHE C>A	X	154722045	154722045	C	A	TMLHE	c.1107G>T	NM_018196.4	NP_060666.1:p.(Glu369Asp)	NC_000023.10:g.154722045C>A	VUS	1 lab	ddf3baa5db
1:43395332 SLC2A1 C>T	1	43395332	43395332	C	T	SLC2A1	c.799G>A	NM_006516.4	NP_006507.2:p.(Ala267Thr)	NC_000001.10:g.43395332C>T	(Likely) benign	1 lab	ddf3e9ea0c
9:140851285 CACNA1B T>C	9	140851285	140851285	T	C	CACNA1B	c.1243+6T>C	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140851285T>C	(Likely) benign	1 lab	ddf427db7f
13:32914671 BRCA2 C>T	13	32914671	32914671	C	T	BRCA2	c.6179C>T	NM_000059.3	NP_000050.2:p.(Thr2060Ile)	NC_000013.10:g.32914671C>T	(Likely) pathogenic	1 lab	2ecb8972f3
11:68206042 LRP5 C>A	11	68206042	68206042	C	A	LRP5	c.4240C>A	NM_002335.4	NP_002326.2:p.(Arg1414Ser)	NC_000011.9:g.68206042C>A	VUS	1 lab	ddf6285f5c
12:83250901 TMTC2 C>T	12	83250901	83250901	C	T	TMTC2	c.196C>T	NM_152588.3	NP_689801.1:p.(Arg66Trp)	NC_000012.11:g.83250901C>T	VUS	1 lab	ddf885568e
22:46930535 CELSR1 A>C	22	46930535	46930535	A	C	CELSR1	c.2533T>G	NM_001378328.1	NP_001365257.1:p.(Tyr845Asp)	NC_000022.10:g.46930535A>C	VUS	1 lab	ddf8882a55
X:54481969 FGD1 A>T	X	54481969	54481969	A	T	FGD1	c.1936-9T>A	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54481969A>T	(Likely) benign	1 lab	ddf91d1b11
11:58920355 FAM111A G>A	11	58920355	58920355	G	A	FAM111A	c.1214G>A	NM_001312909.2	NP_001299838.1:p.(Gly405Asp)	NC_000011.9:g.58920355G>A	(Likely) benign	1 lab	ddfa945e81
2:166011000 SCN3A T>C	2	166011000	166011000	T	C	SCN3A	c.1342A>G	NM_006922.4	NP_008853.3:p.(Met448Val)	NC_000002.11:g.166011000T>C	VUS	1 lab	ddfcc3505d
22:50964693 TYMP GCTC>G	22	50964693	50964701	GCTC	G	TYMP	c.1138_1140del	NM_001953.5	NP_001944.1:p.(Glu380del)	NC_000022.10:g.50964699_50964701del	VUS	1 lab	ddfd7f33f4
12:113617106 DDX54 C>T	12	113617106	113617106	C	T	DDX54	c.406G>A	NM_024072.4	NP_076977.3:p.(Val136Met)	NC_000012.11:g.113617106C>T	VUS	1 lab	ddfe96489c
1:202724429 KDM5B T>A	1	202724429	202724429	T	A	KDM5B	c.1508A>T	NM_006618.5	NP_006609.3:p.(His503Leu)	NC_000001.10:g.202724429T>A	VUS	1 lab	ddfe970a0c
16:4401256 PAM16 G>A	16	4401256	4401256	G	A	PAM16	c.-21C>T	NM_016069.11	NP_057153.8:p.?	NC_000016.9:g.4401256G>A	(Likely) benign	1 lab	ddffec53c9
12:48391970 COL2A1 T>A	12	48391970	48391970	T	A	COL2A1	c.324A>T	NM_001844.5	NP_001835.3:p.(Glu108Asp)	NC_000012.11:g.48391970T>A	VUS	1 lab	de0021d775
12:132529447 EP400 C>T	12	132529447	132529447	C	T	EP400	c.6733C>T	NM_015409.5	NP_056224.3:p.(Pro2245Ser)	NC_000012.11:g.132529447C>T	VUS	1 lab	de03b50dd2
8:22863663 RHOBTB2 G>A	8	22863663	22863663	G	A	RHOBTB2	c.482+5G>A	NM_015178.3	NP_055993.2:p.?	NC_000008.10:g.22863663G>A	VUS	1 lab	de03b74e43
X:65253457 VSIG4 T>C	X	65253457	65253457	T	C	VSIG4	c.271A>G	NM_007268.3	NP_009199.1:p.(Lys91Glu)	NC_000023.10:g.65253457T>C	VUS	1 lab	de05399f90
1:186292937 TPR A>G	1	186292937	186292937	A	G	TPR	c.6178T>C	NM_003292.3	NP_003283.2:p.(Ser2060Pro)	NC_000001.10:g.186292937A>G	(Likely) benign	1 lab	de07213db0
1:180235732 LHX4 A>G	1	180235732	180235732	A	G	LHX4	c.451+3A>G	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180235732A>G	(Likely) benign	1 lab	de07dedb6d
10:89473067 PAPSS2 GGT>G	10	89473067	89473069	GGT	G	PAPSS2	c.381+1_381+2del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068_89473069del	(Likely) benign	1 lab	de0b39da0e
X:17705979 NHS G>A	X	17705979	17705979	G	A	NHS	c.683G>A	NM_001291867.2	NP_001278796.1:p.(Arg228His)	NC_000023.10:g.17705979G>A	(Likely) benign	1 lab	de0bef311e
17:33477064 UNC45B T>C	17	33477064	33477064	T	C	UNC45B	c.206-3T>C	NM_001267052.2	NP_001253981.1:p.?	NC_000017.10:g.33477064T>C	(Likely) benign	1 lab	de0c4711c6
2:20202935 MATN3 C>G	2	20202935	20202935	C	G	MATN3	c.903G>C	NM_002381.5	NP_002372.1:p.(Lys301Asn)	NC_000002.11:g.20202935C>G	(Likely) benign	1 lab	de0d5375d2
11:134188589 GLB1L3 C>T	11	134188589	134188589	C	T	GLB1L3	c.1844C>T	NM_001080407.3	NP_001073876.2:p.(Pro615Leu)	NC_000011.9:g.134188589C>T	VUS	1 lab	de0eedcd9e
2:160025854 TANC1 C>T	2	160025854	160025854	C	T	TANC1	c.1040C>T	NM_033394.3	NP_203752.2:p.(Thr347Met)	NC_000002.11:g.160025854C>T	VUS	1 lab	de0f9fee73
2:233347304 ECEL1 G>C	2	233347304	233347304	G	C	ECEL1	c.1700C>G	NM_004826.4	NP_004817.2:p.(Pro567Arg)	NC_000002.11:g.233347304G>C	VUS	1 lab	de0fe67930
4:96036836 BMPR1B G>T	4	96036836	96036836	G	T	BMPR1B	c.247G>T	NM_001203.3	NP_001194.1:p.(Asp83Tyr)	NC_000004.11:g.96036836G>T	VUS	1 lab	de112b527b
8:75185140 JPH1 G>A	8	75185140	75185140	G	A	JPH1	c.1140-13402C>T	NM_020647.4	NP_065698.1:p.?	NC_000008.10:g.75185140G>A	(Likely) benign	1 lab	de1157dba9
11:6648836 DCHS1 G>A	11	6648836	6648836	G	A	DCHS1	c.5434C>T	NM_003737.4	NP_003728.1:p.(Pro1812Ser)	NC_000011.9:g.6648836G>A	VUS	1 lab	de12a88cf9
9:108363526 FKTN A>G	9	108363526	108363526	A	G	FKTN	c.266A>G	NM_001079802.2	NP_001073270.1:p.(Gln89Arg)	NC_000009.11:g.108363526A>G	(Likely) benign	1 lab	de130b0d3f
21:33068436 SCAF4 A>G	21	33068436	33068436	A	G	SCAF4	c.1058T>C	NM_020706.2	NP_065757.1:p.(Met353Thr)	NC_000021.8:g.33068436A>G	(Likely) benign	1 lab	de15678283
16:1637986 IFT140 C>T	16	1637986	1637986	C	T	IFT140	c.850G>A	NM_014714.4	NP_055529.2:p.(Ala284Thr)	NC_000016.9:g.1637986C>T	(Likely) benign	1 lab	de17071c1e
5:55243420 IL6ST T>TAAA	5	55243420	55243445	T	TAAA	IL6ST	c.1841-6_1841-4dup	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243443_55243445dup	(Likely) benign	1 lab	de18a697b2
12:7173136 C1S C>T	12	7173136	7173136	C	T	C1S	c.733C>T	NM_201442.4	NP_958850.1:p.(Arg245Trp)	NC_000012.11:g.7173136C>T	VUS	1 lab	d987296519
3:81584345 GBE1 T>C	3	81584345	81584345	T	C	GBE1	c.1934+1A>G	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81584345T>C	(Likely) pathogenic	1 lab	de19c6b26d
7:148514457 EZH2 T>C	7	148514457	148514457	T	C	EZH2	c.1267A>G	NM_004456.5	NP_004447.2:p.(Ile423Val)	NC_000007.13:g.148514457T>C	VUS	1 lab	de1b28a4af
2:202569884 ALS2 C>T	2	202569884	202569884	C	T	ALS2	c.4666G>A	NM_020919.4	NP_065970.2:p.(Val1556Ile)	NC_000002.11:g.202569884C>T	VUS	1 lab	2ecd185be9
13:39447075 FREM2 A>C	13	39447075	39447075	A	C	FREM2	c.8176+4A>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39447075A>C	(Likely) benign	1 lab	de2da06c85
15:89399966 ACAN GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA>G	15	89399966	89400042	GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	G	ACAN	c.4170_4226del	NM_001369268.1	NP_001356197.1:p.(Asp1390_Glu1408del)	NC_000015.9:g.89399986_89400042del	(Likely) benign	1 lab	de1e79b00a
7:79840335 GNAI1 G>C	7	79840335	79840335	G	C	GNAI1	c.641G>C	NM_002069.6	NP_002060.4:p.(Cys214Ser)	NC_000007.13:g.79840335G>C	VUS	1 lab	de1eaf5274
15:75652907 MAN2C1 T>A	15	75652907	75652907	T	A	MAN2C1	c.1583A>T	NM_006715.4	NP_006706.2:p.(Gln528Leu)	NC_000015.9:g.75652907T>A	VUS	1 lab	de20d75b6a
5:90046296 ADGRV1 C>T	5	90046296	90046296	C	T	ADGRV1	c.10975-72C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90046296C>T	(Likely) benign	1 lab	2ecee1af91
9:119115903 PAPPA G>A	9	119115903	119115903	G	A	PAPPA	c.4178G>A	NM_002581.5	NP_002572.2:p.(Arg1393Gln)	NC_000009.11:g.119115903G>A	VUS	1 lab	de22a0895d
17:18029653 MYO15A C>G	17	18029653	18029653	C	G	MYO15A	c.3757-8C>G	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18029653C>G	(Likely) benign	1 lab	de249f8d6a
7:44187311 GCK G>T	7	44187311	44187311	G	T	GCK	c.801C>A	NM_000162.5	NP_000153.1:p.(Asp267Glu)	NC_000007.13:g.44187311G>T	VUS	1 lab	de25808b23
12:52966249 KRT74 T>A	12	52966249	52966249	T	A	KRT74	c.674A>T	NM_175053.4	NP_778223.2:p.(Asp225Val)	NC_000012.11:g.52966249T>A	(Likely) benign	1 lab	de27f0b538
15:89402030 ACAN A>G	15	89402030	89402030	A	G	ACAN	c.6214A>G	NM_001369268.1	NP_001356197.1:p.(Lys2072Glu)	NC_000015.9:g.89402030A>G	(Likely) benign	1 lab	de29f249ea
4:6304097 WFS1 C>T	4	6304097	6304097	C	T	WFS1	c.2575C>T	NM_006005.3	NP_005996.2:p.(Arg859Trp)	NC_000004.11:g.6304097C>T	VUS	1 lab	de2a2826b1
1:40751639 ZMPSTE24 C>A	1	40751639	40751639	C	A	ZMPSTE24	c.997C>A	NM_005857.5	NP_005848.2:p.(Leu333Ile)	NC_000001.10:g.40751639C>A	VUS	1 lab	de2b6132ad
8:21900452 FGF17 C>T	8	21900452	21900452	C	T	FGF17	c.13C>T	NM_003867.4	NP_003858.1:p.(Arg5Cys)	NC_000008.10:g.21900452C>T	(Likely) benign	1 lab	de2ddd20b1
5:102338739 PAM C>G	5	102338739	102338739	C	G	PAM	c.1616C>G	NM_001177306.2	NP_001170777.1:p.(Ser539Trp)	NC_000005.9:g.102338739C>G	(Likely) benign	1 lab	de3020cb07
9:2645713 VLDLR C>A	9	2645713	2645713	C	A	VLDLR	c.1452C>A	NM_003383.5	NP_003374.3:p.(Phe484Leu)	NC_000009.11:g.2645713C>A	VUS	1 lab	de3159dd0b
3:178957810 PIK3CA T>C	3	178957810	178957810	T	C	PIK3CA	c.*5658T>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178957810T>C	(Likely) benign	1 lab	de3202408e
16:30567149 ZNF764 G>C	16	30567149	30567149	G	C	ZNF764	c.590C>G	NM_001172679.2	NP_001166150.1:p.(Thr197Ser)	NC_000016.9:g.30567149G>C	VUS	1 lab	de328b77db
15:63908738 HERC1 A>C	15	63908738	63908738	A	C	HERC1	c.13832T>G	NM_003922.4	NP_003913.3:p.(Val4611Gly)	NC_000015.9:g.63908738A>C	VUS	1 lab	de333f1367
21:44485308 CBS C>T	21	44485308	44485308	C	T	CBS	c.736+5G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44485308C>T	VUS	1 lab	de33603d92
11:640056 DRD4 TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC>T	11	640056	640108	TCCCCGGGGTCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTC	T	DRD4	c.812_859del	NM_000797.4	NP_000788.2:p.(Arg271_Pro286del)	NC_000011.9:g.640061_640108del	VUS	1 lab	de363b6929
20:44669142 SLC12A5 G>A	20	44669142	44669142	G	A	SLC12A5	c.743G>A	NM_020708.5	NP_065759.1:p.(Gly248Asp)	NC_000020.10:g.44669142G>A	VUS	1 lab	de3804114a
5:149436924 CSF1R G>A	5	149436924	149436924	G	A	CSF1R	c.2245C>T	NM_001288705.3	NP_001275634.1:p.(Pro749Ser)	NC_000005.9:g.149436924G>A	VUS	1 lab	de3bd26155
18:57364612 CCBE1 G>A	18	57364612	57364612	G	A	CCBE1	c.-38C>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57364612G>A	VUS	1 lab	de3d8dedfc
17:59482043 TBX2 GC>G	17	59482043	59482045	GC	G	TBX2	c.966del	NM_005994.4	NP_005985.3:p.(Ser323ArgfsTer45)	NC_000017.10:g.59482045del	VUS	1 lab	de4d4bbcc6
10:28824670 WAC TAGAG>T	10	28824670	28824678	TAGAG	T	WAC	c.263_266del	NM_016628.5	NP_057712.2:p.(Glu88GlyfsTer103)	NC_000010.10:g.28824675_28824678del	(Likely) pathogenic	1 lab	de3dd351b2
2:25384076 POMC G>T	2	25384076	25384076	G	T	POMC	c.678C>A	NM_000939.4	NP_000930.1:p.(Phe226Leu)	NC_000002.11:g.25384076G>T	VUS	1 lab	de3e2175d2
1:226125304 LEFTY2 G>A	1	226125304	226125304	G	A	LEFTY2	c.938C>T	NM_003240.5	NP_003231.2:p.(Pro313Leu)	NC_000001.10:g.226125304G>A	VUS	1 lab	de3e42cf13
19:920629 KISS1R C>T	19	920629	920629	C	T	KISS1R	c.1078C>T	NM_032551.5	NP_115940.2:p.(His360Tyr)	NC_000019.9:g.920629C>T	(Likely) benign	1 lab	de3fc02d4a
6:41129337 TREM2 G>A	6	41129337	41129337	G	A	TREM2	c.55C>T	NM_018965.4	NP_061838.1:p.(His19Tyr)	NC_000006.11:g.41129337G>A	(Likely) benign	1 lab	de412a42d1
19:45922388 ERCC1 C>T	19	45922388	45922388	C	T	ERCC1	c.493G>A	NM_001983.4	NP_001974.1:p.(Ala165Thr)	NC_000019.9:g.45922388C>T	(Likely) benign	1 lab	de41e2bd17
9:140128581 SLC34A3 A>ACGGAGCTCACGGACCTGGC	9	140128581	140128602	A	ACGGAGCTCACGGACCTGGC	SLC34A3	c.949_967dup	NM_001177316.2	NP_001170787.2:p.(Val323GlyfsTer276)	NC_000009.11:g.140128584_140128602dup	VUS	1 lab	de431fb57d
1:201195014 IGFN1 G>A	1	201195014	201195014	G	A	IGFN1	c.10549G>A	NM_001164586.2	NP_001158058.1:p.(Glu3517Lys)	NC_000001.10:g.201195014G>A	(Likely) benign	1 lab	de44665c7e
1:154558246 ADAR T>C	1	154558246	154558246	T	C	ADAR	c.3298A>G	NM_001111.5	NP_001102.3:p.(Ile1100Val)	NC_000001.10:g.154558246T>C	VUS	1 lab	de483e8a69
8:100568689 VPS13B A>G	8	100568689	100568689	A	G	VPS13B	c.4757A>G	NM_152564.5	NP_689777.3:p.(Asn1586Ser)	NC_000008.10:g.100568689A>G	(Likely) benign	1 lab	de4862f0ba
12:125435019 DHX37 G>T	12	125435019	125435019	G	T	DHX37	c.3061C>A	NM_032656.4	NP_116045.2:p.(Pro1021Thr)	NC_000012.11:g.125435019G>T	VUS	1 lab	de496fd2d9
9:139943387 ENTPD2 G>C	9	139943387	139943387	G	C	ENTPD2	c.1284+6C>G	NM_203468.3	NP_982293.1:p.?	NC_000009.11:g.139943387G>C	(Likely) benign	1 lab	de49c74e3e
17:70120319 SOX9 G>A	17	70120319	70120319	G	A	SOX9	c.1321G>A	NM_000346.4	NP_000337.1:p.(Asp441Asn)	NC_000017.10:g.70120319G>A	(Likely) benign	1 lab	de4ab6e57d
19:39228275 CAPN12 C>T	19	39228275	39228275	C	T	CAPN12	c.969G>A	NM_144691.4	NP_653292.2:p.(Met323Ile)	NC_000019.9:g.39228275C>T	VUS	1 lab	de4e462794
X:104464660 IL1RAPL2 T>C	X	104464660	104464660	T	C	IL1RAPL2	c.357-13842T>C	NM_017416.2	NP_059112.1:p.?	NC_000023.10:g.104464660T>C	(Likely) benign	1 lab	de4fbd47a2
2:230657721 TRIP12 A>G	2	230657721	230657721	A	G	TRIP12	c.4109T>C	NM_001348323.3	NP_001335252.1:p.(Val1370Ala)	NC_000002.11:g.230657721A>G	VUS	1 lab	de5141aa9e
16:30750195 SRCAP C>T	16	30750195	30750195	C	T	SRCAP	c.8834C>T	NM_006662.3	NP_006653.2:p.(Ala2945Val)	NC_000016.9:g.30750195C>T	(Likely) benign	1 lab	de51e9acf1
21:35247798 ITSN1 C>A	21	35247798	35247798	C	A	ITSN1	c.4314C>A	NM_003024.3	NP_003015.2:p.(Ala1438=)	NC_000021.8:g.35247798C>A	(Likely) benign	1 lab	2ed4367f14
5:177580532 NHP2 C>T	5	177580532	177580532	C	T	NHP2	c.190G>A	NM_017838.4	NP_060308.1:p.(Val64Met)	NC_000005.9:g.177580532C>T	VUS	1 lab	de520c16f9
6:111621337 REV3L C>T	6	111621337	111621337	C	T	REV3L	c.9275G>A	NM_001372078.1	NP_001359007.1:p.(Cys3092Tyr)	NC_000006.11:g.111621337C>T	(Likely) benign	1 lab	de5274d32b
19:42853645 MEGF8 C>T	19	42853645	42853645	C	T	MEGF8	c.2299-6C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42853645C>T	(Likely) benign	1 lab	de5289bbf5
6:99374436 FBXL4 T>C	6	99374436	99374436	T	C	FBXL4	c.429A>G	NM_001278716.2	NP_001265645.1:p.(Leu143=)	NC_000006.11:g.99374436T>C	(Likely) benign	1 lab	de5453800a
19:14024269 CC2D1A C>T	19	14024269	14024269	C	T	CC2D1A	c.566C>T	NM_017721.5	NP_060191.3:p.(Ala189Val)	NC_000019.9:g.14024269C>T	(Likely) benign	1 lab	de56fd3f10
11:64375185 NRXN2 T>A	11	64375185	64375185	T	A	NRXN2	c.4622A>T	NM_015080.4	NP_055895.1:p.(Asp1541Val)	NC_000011.9:g.64375185T>A	VUS	1 lab	de5802b741
5:127714093 FBN2 G>A	5	127714093	127714093	G	A	FBN2	c.1723+371C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127714093G>A	(Likely) benign	1 lab	de5831bbdc
9:135919225 GTF3C5 C>A	9	135919225	135919225	C	A	GTF3C5	c.484C>A	NM_012087.4	NP_036219.2:p.(Gln162Lys)	NC_000009.11:g.135919225C>A	VUS	1 lab	de589be34e
11:5842364 OR52N2 G>T	11	5842364	5842364	G	T	OR52N2	c.799G>T	NM_001005174.3	NP_001005174.1:p.(Val267Leu)	NC_000011.9:g.5842364G>T	(Likely) benign	1 lab	de598ca4db
14:59112645 DACT1 T>C	14	59112645	59112645	T	C	DACT1	c.1304T>C	NM_016651.6	NP_057735.2:p.(Leu435Pro)	NC_000014.8:g.59112645T>C	(Likely) benign	1 lab	3737030daf
17:79031598 BAIAP2 C>T	17	79031598	79031598	C	T	BAIAP2	c.131-83C>T	NM_001144888.2	NP_001138360.1:p.?	NC_000017.10:g.79031598C>T	(Likely) benign	1 lab	de5fc39bcb
3:167414851 PDCD10 C>G	3	167414851	167414851	C	G	PDCD10	c.214G>C	NM_007217.4	NP_009148.2:p.(Val72Leu)	NC_000003.11:g.167414851C>G	(Likely) benign	1 lab	de61d77393
3:48683677 CELSR3 G>C	3	48683677	48683677	G	C	CELSR3	c.7309C>G	NM_001407.3	NP_001398.2:p.(Pro2437Ala)	NC_000003.11:g.48683677G>C	VUS	1 lab	de6213be21
2:65541063 SPRED2 C>G	2	65541063	65541063	C	G	SPRED2	c.829G>C	NM_181784.3	NP_861449.2:p.(Gly277Arg)	NC_000002.11:g.65541063C>G	(Likely) benign	1 lab	de62fbe357
2:48737257 PPP1R21 G>A	2	48737257	48737257	G	A	PPP1R21	c.2184+5G>A	NM_001135629.3	NP_001129101.1:p.?	NC_000002.11:g.48737257G>A	(Likely) benign	1 lab	de633ae614
16:3788632 CREBBP C>T	16	3788632	3788632	C	T	CREBBP	c.4322G>A	NM_004380.3	NP_004371.2:p.(Arg1441Gln)	NC_000016.9:g.3788632C>T	VUS	1 lab	de63d84702
16:89349362 ANKRD11 G>C	16	89349362	89349362	G	C	ANKRD11	c.3588C>G	NM_013275.6	NP_037407.4:p.(Asp1196Glu)	NC_000016.9:g.89349362G>C	VUS	1 lab	de64165639
3:151094936 MED12L C>T	3	151094936	151094936	C	T	MED12L	c.4286C>T	NM_001393769.1	NP_001380698.1:p.(Thr1429Met)	NC_000003.11:g.151094936C>T	VUS	1 lab	de64341eaf
13:110814632 COL4A1 G>A	13	110814632	110814632	G	A	COL4A1	c.4407C>T	NM_001845.6	NP_001836.3:p.(His1469=)	NC_000013.10:g.110814632G>A	(Likely) benign	1 lab	de66643776
X:129289210 AIFM1 C>G	X	129289210	129289210	C	G	AIFM1	c.249+1225G>C	NM_004208.4	NP_004199.1:p.?	NC_000023.10:g.129289210C>G	(Likely) benign	1 lab	de67c0611f
15:33944944 RYR3 G>A	15	33944944	33944944	G	A	RYR3	c.4168G>A	NM_001036.6	NP_001027.3:p.(Val1390Ile)	NC_000015.9:g.33944944G>A	VUS	1 lab	de6812dbc0
11:89028511 TYR A>C	11	89028511	89028511	A	C	TYR	c.1567A>C	NM_000372.5	NP_000363.1:p.(Ser523Arg)	NC_000011.9:g.89028511A>C	VUS	1 lab	de695e4525
15:34117877 RYR3 C>T	15	34117877	34117877	C	T	RYR3	c.11146C>T	NM_001036.6	NP_001027.3:p.(Leu3716Phe)	NC_000015.9:g.34117877C>T	VUS	1 lab	de6af203c5
2:165986711 SCN3A C>G	2	165986711	165986711	C	G	SCN3A	c.2661G>C	NM_006922.4	NP_008853.3:p.(Leu887Phe)	NC_000002.11:g.165986711C>G	VUS	1 lab	de6afc1550
2:152383982 NEB T>G	2	152383982	152383982	T	G	NEB	c.21840+13A>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152383982T>G	(Likely) benign	1 lab	de6c0ae94f
X:125686543 DCAF12L1 C>G	X	125686543	125686543	C	G	DCAF12L1	c.49G>C	NM_178470.5	NP_848565.2:p.(Glu17Gln)	NC_000023.10:g.125686543C>G	(Likely) benign	1 lab	de6d7e6e5f
14:75330435 PROX2 C>T	14	75330435	75330435	C	T	PROX2	c.103G>A	NM_001243007.2	NP_001229936.1:p.(Asp35Asn)	NC_000014.8:g.75330435C>T	(Likely) benign	1 lab	de70244907
4:85614029 WDFY3 T>C	4	85614029	85614029	T	C	WDFY3	c.9049+9A>G	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85614029T>C	(Likely) benign	1 lab	de70483c01
11:108198414 ATM G>T	11	108198414	108198414	G	T	ATM	c.7018G>T	NM_000051.4	NP_000042.3:p.(Val2340Phe)	NC_000011.9:g.108198414G>T	VUS	1 lab	de71e434cb
16:23646419 PALB2 G>A	16	23646419	23646419	G	A	PALB2	c.1448C>T	NM_024675.4	NP_078951.2:p.(Ser483Leu)	NC_000016.9:g.23646419G>A	VUS	1 lab	de74621ba3
9:35792907 NPR2 T>G	9	35792907	35792907	T	G	NPR2	c.502T>G	NM_003995.4	NP_003986.2:p.(Leu168Val)	NC_000009.11:g.35792907T>G	VUS	1 lab	de74e1fba4
3:49094954 QRICH1 C>T	3	49094954	49094954	C	T	QRICH1	c.679G>A	NM_198880.3	NP_942581.1:p.(Gly227Ser)	NC_000003.11:g.49094954C>T	(Likely) benign	1 lab	de755b1ea6
1:97187453 PTBP2 G>A	1	97187453	97187453	G	A	PTBP2	c.8+25G>A	NM_021190.4	NP_067013.1:p.?	NC_000001.10:g.97187453G>A	VUS	1 lab	df34136658
1:160097429 ATP1A2 G>A	1	160097429	160097429	G	A	ATP1A2	c.836G>A	NM_000702.4	NP_000693.1:p.(Arg279Gln)	NC_000001.10:g.160097429G>A	(Likely) benign	1 lab	de756637cd
17:80579489 WDR45B T>C	17	80579489	80579489	T	C	WDR45B	c.614A>G	NM_019613.4	NP_062559.2:p.(Glu205Gly)	NC_000017.10:g.80579489T>C	VUS	1 lab	de7aa3811c
4:37839156 PGM2 C>T	4	37839156	37839156	C	T	PGM2	c.362C>T	NM_018290.4	NP_060760.2:p.(Ala121Val)	NC_000004.11:g.37839156C>T	(Likely) benign	1 lab	de7c2572a4
2:74275226 TET3 C>G	2	74275226	74275226	C	G	TET3	c.2182C>G	NM_001287491.2	NP_001274420.1:p.(Pro728Ala)	NC_000002.11:g.74275226C>G	(Likely) benign	1 lab	de7cc1e29c
14:21360068 RNASE3 TTTGC>T	14	21360068	21360073	TTTGC	T	RNASE3	c.225_228del	NM_002935.3	NP_002926.2:p.(Phe75LeufsTer3)	NC_000014.8:g.21360070_21360073del	VUS	1 lab	de7e30e707
17:79173216 CEP131 C>A	17	79173216	79173216	C	A	CEP131	c.1157G>T	NM_014984.4	NP_055799.2:p.(Gly386Val)	NC_000017.10:g.79173216C>A	(Likely) benign	1 lab	de7ff6dbf6
17:48674193 CACNA1G C>T	17	48674193	48674193	C	T	CACNA1G	c.3167C>T	NM_018896.5	NP_061496.2:p.(Thr1056Met)	NC_000017.10:g.48674193C>T	(Likely) benign	1 lab	de80bd6a0c
19:38959971 RYR1 C>G	19	38959971	38959971	C	G	RYR1	c.3583C>G	NM_000540.3	NP_000531.2:p.(Pro1195Ala)	NC_000019.9:g.38959971C>G	VUS	1 lab	de8283dc09
2:48032861 MSH6 TTCTCATTTG>T	2	48032861	48032870	TTCTCATTTG	T	MSH6	c.3646+16_3646+24del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032862_48032870del	VUS	1 lab	de82e62ebc
6:138607149 ARFGEF3 C>T	6	138607149	138607149	C	T	ARFGEF3	c.2528C>T	NM_020340.5	NP_065073.3:p.(Pro843Leu)	NC_000006.11:g.138607149C>T	VUS	1 lab	de836e5487
3:128629597 CFAP92 A>G	3	128629597	128629597	A	G	CFAP92	c.3281-421T>C	NM_001394090.1	NP_001381019.1:p.?	NC_000003.11:g.128629597A>G	(Likely) benign	1 lab	de83a25f63
19:15354055 BRD4 G>A	19	15354055	15354055	G	A	BRD4	c.2825C>T	NM_001379291.1	NP_001366220.1:p.(Thr942Met)	NC_000019.9:g.15354055G>A	(Likely) benign	1 lab	de86173b7b
19:1469824 APC2 A>G	19	1469824	1469824	A	G	APC2	c.6524A>G	NM_005883.3	NP_005874.1:p.(Glu2175Gly)	NC_000019.9:g.1469824A>G	VUS	1 lab	de8756858a
22:41569726 EP300 A>G	22	41569726	41569726	A	G	EP300	c.4717A>G	NM_001429.4	NP_001420.2:p.(Met1573Val)	NC_000022.10:g.41569726A>G	(Likely) benign	1 lab	de87eb9ea2
17:78190990 SGSH C>T	17	78190990	78190990	C	T	SGSH	c.90G>A	NM_000199.5	NP_000190.1:p.(Ala30=)	NC_000017.10:g.78190990C>T	VUS	1 lab	de88afa4a0
16:88803111 PIEZO1 G>A	16	88803111	88803111	G	A	PIEZO1	c.1232C>T	NM_001142864.4	NP_001136336.2:p.(Pro411Leu)	NC_000016.9:g.88803111G>A	VUS	1 lab	d9888bb7c9
2:3691326 COLEC11 G>T	2	3691326	3691326	G	T	COLEC11	c.434G>T	NM_024027.5	NP_076932.1:p.(Gly145Val)	NC_000002.11:g.3691326G>T	VUS	1 lab	de8b510c9e
19:56466133 NLRP8 C>T	19	56466133	56466133	C	T	NLRP8	c.709C>T	NM_176811.2	NP_789781.2:p.(Arg237Cys)	NC_000019.9:g.56466133C>T	(Likely) benign	1 lab	de8c93aad7
1:181731755 CACNA1E A>G	1	181731755	181731755	A	G	CACNA1E	c.4651A>G	NM_001205293.3	NP_001192222.1:p.(Ile1551Val)	NC_000001.10:g.181731755A>G	(Likely) benign	1 lab	de8cbda5bc
2:173368861 ITGA6 C>T	2	173368861	173368861	C	T	ITGA6	c.*65C>T	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173368861C>T	VUS	1 lab	de8d324f7c
6:117199006 RFX6 G>T	6	117199006	117199006	G	T	RFX6	c.271G>T	NM_173560.4	NP_775831.2:p.(Asp91Tyr)	NC_000006.11:g.117199006G>T	VUS	1 lab	de8f36305b
14:75509148 MLH3 C>G	14	75509148	75509148	C	G	MLH3	c.3313G>C	NM_001040108.2	NP_001035197.1:p.(Asp1105His)	NC_000014.8:g.75509148C>G	VUS	1 lab	de8f45373f
X:99663099 PCDH19 TA>T	X	99663099	99663101	TA	T	PCDH19	c.496del	NM_001184880.2	NP_001171809.1:p.(Tyr166ThrfsTer46)	NC_000023.10:g.99663101del	(Likely) pathogenic	1 lab	2ed48512ec
X:48888074 TFE3 T>C	X	48888074	48888074	T	C	TFE3	c.1323A>G	NM_006521.6	NP_006512.2:p.(Val441=)	NC_000023.10:g.48888074T>C	(Likely) benign	1 lab	d98dfaeb0d
11:119156245 CBL T>A	11	119156245	119156245	T	A	CBL	c.1910T>A	NM_005188.4	NP_005179.2:p.(Leu637His)	NC_000011.9:g.119156245T>A	(Likely) benign	1 lab	de914cb28f
12:59271376 LRIG3 C>T	12	59271376	59271376	C	T	LRIG3	c.2342G>A	NM_153377.5	NP_700356.2:p.(Arg781His)	NC_000012.11:g.59271376C>T	VUS	1 lab	de925f6966
8:41792235 KAT6A C>T	8	41792235	41792235	C	T	KAT6A	c.3503G>A	NM_006766.5	NP_006757.2:p.(Gly1168Asp)	NC_000008.10:g.41792235C>T	VUS	1 lab	de92d7cf08
1:32198162 ADGRB2 C>G	1	32198162	32198162	C	G	ADGRB2	c.3676G>C	NM_001364857.2	NP_001351786.1:p.(Glu1226Gln)	NC_000001.10:g.32198162C>G	VUS	1 lab	de93f34867
19:10252819 DNMT1 G>A	19	10252819	10252819	G	A	DNMT1	c.3194C>T	NM_001130823.3	NP_001124295.1:p.(Ala1065Val)	NC_000019.9:g.10252819G>A	(Likely) benign	1 lab	de94b66fa5
22:30769973 CCDC157 G>A	22	30769973	30769973	G	A	CCDC157	c.1565G>A	NM_001017437.5	NP_001017437.3:p.(Arg522Gln)	NC_000022.10:g.30769973G>A	VUS	1 lab	dea05484a8
2:217311816 SMARCAL1 G>A	2	217311816	217311816	G	A	SMARCAL1	c.1786G>A	NM_014140.4	NP_054859.2:p.(Ala596Thr)	NC_000002.11:g.217311816G>A	VUS	1 lab	de98417da8
3:81643087 GBE1 C>T	3	81643087	81643087	C	T	GBE1	c.1080G>A	NM_000158.4	NP_000149.4:p.(Thr360=)	NC_000003.11:g.81643087C>T	(Likely) benign	1 lab	de989c4c47
1:6214966 CHD5 G>A	1	6214966	6214966	G	A	CHD5	c.507-8C>T	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6214966G>A	(Likely) benign	1 lab	de99e851ee
16:86602407 FOXC2 G>C	16	86602407	86602407	G	C	FOXC2	c.1466G>C	NM_005251.3	NP_005242.1:p.(Arg489Pro)	NC_000016.9:g.86602407G>C	VUS	1 lab	de9b8b95b5
19:38991456 RYR1 T>A	19	38991456	38991456	T	A	RYR1	c.7445-5T>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38991456T>A	VUS	1 lab	de9b93b09a
3:46620754 CRIPTO C>G	3	46620754	46620754	C	G	CRIPTO	c.121C>G	NM_003212.4	NP_003203.1:p.(Arg41Gly)	NC_000003.11:g.46620754C>G	(Likely) benign	1 lab	de9bb24372
2:58387307 FANCL C>G	2	58387307	58387307	C	G	FANCL	c.1028G>C	NM_018062.4	NP_060532.2:p.(Arg343Thr)	NC_000002.11:g.58387307C>G	VUS	1 lab	de9c0e17a8
3:71101370 FOXP1 C>A	3	71101370	71101370	C	A	FOXP1	c.510+318G>T	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71101370C>A	(Likely) benign	1 lab	dea96c06bb
7:70255576 AUTS2 GCCACCA>G	7	70255576	70255602	GCCACCA	G	AUTS2	c.3395_3400del	NM_015570.4	NP_056385.1:p.(His1132_His1133del)	NC_000007.13:g.70255597_70255602del	(Likely) benign	1 lab	de9c590093
1:236925812 ACTN2 C>G	1	236925812	236925812	C	G	ACTN2	c.2578C>G	NM_001103.3	NP_001094.1:p.(Gln860Glu)	NC_000001.10:g.236925812C>G	(Likely) benign	1 lab	2ed60d1d88
1:231401904 GNPAT C>G	1	231401904	231401904	C	G	GNPAT	c.917C>G	NM_014236.4	NP_055051.1:p.(Ser306Cys)	NC_000001.10:g.231401904C>G	VUS	1 lab	de9d4c6c47
4:107229957 TBCK C>T	4	107229957	107229957	C	T	TBCK	c.161G>A	NM_001163435.3	NP_001156907.2:p.(Cys54Tyr)	NC_000004.11:g.107229957C>T	VUS	1 lab	de9e1e577c
16:81971489 PLCG2 T>G	16	81971489	81971489	T	G	PLCG2	c.3179T>G	NM_002661.5	NP_002652.2:p.(Leu1060Arg)	NC_000016.9:g.81971489T>G	(Likely) benign	1 lab	de9facff10
15:45695427 AFG2B C>T	15	45695427	45695427	C	T	AFG2B	c.800C>T	NM_024063.3	NP_076968.2:p.(Ala267Val)	NC_000015.9:g.45695427C>T	VUS	1 lab	dec30ca760
17:34182384 HEATR9 T>C	17	34182384	34182384	T	C	HEATR9	c.1396A>G	NM_152781.4	NP_689994.2:p.(Ile466Val)	NC_000017.10:g.34182384T>C	VUS	1 lab	dea3b35b65
16:88781111 CTU2 TGG>T	16	88781111	88781114	TGG	T	CTU2	c.1320_1321del	NM_001012759.3	NP_001012777.1:p.(Trp440CysfsTer19)	NC_000016.9:g.88781113_88781114del	VUS	1 lab	dea56e7464
7:70228140 AUTS2 C>T	7	70228140	70228140	C	T	AUTS2	c.1027C>T	NM_015570.4	NP_056385.1:p.(Gln343Ter)	NC_000007.13:g.70228140C>T	VUS	1 lab	dea6739552
8:8869213 ERI1 A>C	8	8869213	8869213	A	C	ERI1	c.449A>C	NM_153332.4	NP_699163.2:p.(Glu150Ala)	NC_000008.10:g.8869213A>C	(Likely) benign	1 lab	dea6ba999c
12:124155863 TCTN2 G>T	12	124155863	124155863	G	T	TCTN2	c.76G>T	NM_024809.5	NP_079085.2:p.(Asp26Tyr)	NC_000012.11:g.124155863G>T	VUS	1 lab	dea845edf8
1:155491244 ASH1L G>A	1	155491244	155491244	G	A	ASH1L	c.67C>T	NM_018489.3	NP_060959.2:p.(Pro23Ser)	NC_000001.10:g.155491244G>A	VUS	1 lab	deaaeb7e25
19:17213045 MYO9B A>G	19	17213045	17213045	A	G	MYO9B	c.518A>G	NM_004145.4	NP_004136.2:p.(Gln173Arg)	NC_000019.9:g.17213045A>G	VUS	1 lab	deab080a1d
15:75703823 SIN3A C>T	15	75703823	75703823	C	T	SIN3A	c.1008+10G>A	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75703823C>T	(Likely) benign	1 lab	deaed327fb
6:43018849 CUL7 C>T	6	43018849	43018849	C	T	CUL7	c.1090G>A	NM_014780.5	NP_055595.2:p.(Ala364Thr)	NC_000006.11:g.43018849C>T	(Likely) benign	1 lab	deb0cf9738
12:49431411 KMT2D C>G	12	49431411	49431411	C	G	KMT2D	c.9728G>C	NM_003482.4	NP_003473.3:p.(Ser3243Thr)	NC_000012.11:g.49431411C>G	VUS	1 lab	deb112cd7a
16:72057393 DHODH G>A	16	72057393	72057393	G	A	DHODH	c.994G>A	NM_001361.5	NP_001352.2:p.(Val332Ile)	NC_000016.9:g.72057393G>A	VUS	1 lab	deb1ec676d
7:44259671 CAMK2B G>A	7	44259671	44259671	G	A	CAMK2B	c.1991C>T	NM_001220.5	NP_001211.3:p.(Pro664Leu)	NC_000007.13:g.44259671G>A	(Likely) benign	1 lab	deb1f07223
12:115117458 TBX3 T>C	12	115117458	115117458	T	C	TBX3	c.658-2A>G	NM_005996.4	NP_005987.3:p.?	NC_000012.11:g.115117458T>C	(Likely) pathogenic	1 lab	deb2699003
7:30695329 CRHR2 T>C	7	30695329	30695329	T	C	CRHR2	c.878A>G	NM_001202481.1	NP_001189410.1:p.(Lys293Arg)	NC_000007.13:g.30695329T>C	(Likely) benign	1 lab	373984680d
6:32633899 HLA-DQB1 T>C	6	32633899	32633899	T	C	HLA-DQB1	c.109+377A>G	NM_002123.5	NP_002114.3:p.?	NC_000006.11:g.32633899T>C	(Likely) benign	1 lab	deb2cb8363
11:60184291 MS4A14 C>T	11	60184291	60184291	C	T	MS4A14	c.1850C>T	NM_032597.5	NP_115986.3:p.(Pro617Leu)	NC_000011.9:g.60184291C>T	(Likely) benign	1 lab	deb4c4a931
4:158224729 GRIA2 CTA>C	4	158224729	158224732	CTA	C	GRIA2	c.257_258del	NM_001083619.3	NP_001077088.2:p.(Tyr86CysfsTer7)	NC_000004.11:g.158224731_158224732del	(Likely) pathogenic	1 lab	deb5882939
12:117187674 RNFT2 G>C	12	117187674	117187674	G	C	RNFT2	c.112G>C	NM_001382266.1	NP_001369195.1:p.(Ala38Pro)	NC_000012.11:g.117187674G>C	(Likely) benign	1 lab	deb69c3827
5:149357573 SLC26A2 A>C	5	149357573	149357573	A	C	SLC26A2	c.358A>C	NM_000112.4	NP_000103.2:p.(Ile120Leu)	NC_000005.9:g.149357573A>C	VUS	1 lab	deb82f20f0
1:92642595 BTBD8 A>G	1	92642595	92642595	A	G	BTBD8	c.1845A>G	NM_001376131.1	NP_001363060.1:p.(Ile615Met)	NC_000001.10:g.92642595A>G	VUS	1 lab	deb8719be2
10:31750140 ZEB1 A>C	10	31750140	31750140	A	C	ZEB1	c.233A>C	NM_001174096.2	NP_001167567.1:p.(Asn78Thr)	NC_000010.10:g.31750140A>C	(Likely) pathogenic	1 lab	deb8c520e1
13:24895134 C1QTNF9 G>C	13	24895134	24895134	G	C	C1QTNF9	c.230G>C	NM_178540.5	NP_848635.2:p.(Gly77Ala)	NC_000013.10:g.24895134G>C	(Likely) benign	1 lab	deb91d2254
3:119133099 ARHGAP31 G>A	3	119133099	119133099	G	A	ARHGAP31	c.2323G>A	NM_020754.4	NP_065805.2:p.(Gly775Ser)	NC_000003.11:g.119133099G>A	(Likely) benign	1 lab	deb9f64026
1:197072929 ASPM G>A	1	197072929	197072929	G	A	ASPM	c.5452C>T	NM_018136.5	NP_060606.3:p.(Arg1818Cys)	NC_000001.10:g.197072929G>A	VUS	1 lab	debb49e770
X:95993666 DIAPH2 G>A	X	95993666	95993666	G	A	DIAPH2	c.247G>A	NM_006729.5	NP_006720.1:p.(Ala83Thr)	NC_000023.10:g.95993666G>A	(Likely) benign	1 lab	debdc86fce
5:177035995 B4GALT7 C>T	5	177035995	177035995	C	T	B4GALT7	c.808C>T	NM_007255.3	NP_009186.1:p.(Arg270Cys)	NC_000005.9:g.177035995C>T	(Likely) pathogenic	1 lab	dec5c89493
X:44037731 EFHC2 C>T	X	44037731	44037731	C	T	EFHC2	c.1831G>A	NM_025184.4	NP_079460.2:p.(Glu611Lys)	NC_000023.10:g.44037731C>T	(Likely) benign	1 lab	dec91f7e84
19:50905484 POLD1 C>T	19	50905484	50905484	C	T	POLD1	c.612C>T	NM_002691.4	NP_002682.2:p.(His204=)	NC_000019.9:g.50905484C>T	VUS	1 lab	dec9916dc2
2:212570063 ERBB4 C>T	2	212570063	212570063	C	T	ERBB4	c.1178G>A	NM_005235.3	NP_005226.1:p.(Arg393Gln)	NC_000002.11:g.212570063C>T	(Likely) benign	1 lab	decaefca53
22:42607817 TCF20 C>T	22	42607817	42607817	C	T	TCF20	c.3495G>A	NM_001378418.1	NP_001365347.1:p.(Met1165Ile)	NC_000022.10:g.42607817C>T	(Likely) benign	1 lab	decd18729f
4:88996008 PKD2 TAGTGTCCA>T	4	88996008	88996018	TAGTGTCCA	T	PKD2	c.2570_2577del	NM_000297.4	NP_000288.1:p.(Val857AspfsTer2)	NC_000004.11:g.88996011_88996018del	(Likely) pathogenic	1 lab	2edd62644d
16:4934473 PPL G>A	16	4934473	4934473	G	A	PPL	c.4183C>T	NM_002705.5	NP_002696.4:p.(Arg1395Trp)	NC_000016.9:g.4934473G>A	VUS	1 lab	decec0e984
8:119122693 EXT1 C>A	8	119122693	119122693	C	A	EXT1	c.593G>T	NM_000127.3	NP_000118.2:p.(Gly198Val)	NC_000008.10:g.119122693C>A	(Likely) pathogenic	1 lab	decee0c97f
1:36558902 ADPRS C>T	1	36558902	36558902	C	T	ADPRS	c.1007C>T	NM_017825.3	NP_060295.1:p.(Pro336Leu)	NC_000001.10:g.36558902C>T	VUS	1 lab	decf0b265f
10:104836902 CNNM2 G>A	10	104836902	104836902	G	A	CNNM2	c.2593G>A	NM_017649.5	NP_060119.3:p.(Ala865Thr)	NC_000010.10:g.104836902G>A	VUS	1 lab	ded1d1e422
9:95043108 IARS1 G>C	9	95043108	95043108	G	C	IARS1	c.665C>G	NM_002161.6	NP_002152.2:p.(Ala222Gly)	NC_000009.11:g.95043108G>C	VUS	1 lab	ded1ebfdd0
16:84346675 WFDC1 G>A	16	84346675	84346675	G	A	WFDC1	c.253G>A	NM_021197.4	NP_067020.2:p.(Ala85Thr)	NC_000016.9:g.84346675G>A	VUS	1 lab	ded3096117
4:80899214 ANTXR2 G>A	4	80899214	80899214	G	A	ANTXR2	c.1294C>T	NM_058172.6	NP_477520.2:p.(Arg432Ter)	NC_000004.11:g.80899214G>A	(Likely) pathogenic	1 lab	ded6240190
20:43034778 HNF4A C>T	20	43034778	43034778	C	T	HNF4A	c.196C>T	NM_000457.5	NP_000448.3:p.(Arg66Trp)	NC_000020.10:g.43034778C>T	VUS	1 lab	ded712bc31
12:112910801 PTPN11 G>T	12	112910801	112910801	G	T	PTPN11	c.810G>T	NM_002834.5	NP_002825.3:p.(Arg270Ser)	NC_000012.11:g.112910801G>T	VUS	1 lab	ded8a55d13
22:26157081 MYO18B G>A	22	26157081	26157081	G	A	MYO18B	c.22G>A	NM_032608.7	NP_115997.5:p.(Ala8Thr)	NC_000022.10:g.26157081G>A	VUS	1 lab	ded99aab57
11:64064716 KCNK4 C>T	11	64064716	64064716	C	T	KCNK4	c.439C>T	NM_033310.3	NP_201567.1:p.(Arg147Cys)	NC_000011.9:g.64064716C>T	(Likely) benign	1 lab	dedb93d04a
21:33043929 SCAF4 C>T	21	33043929	33043929	C	T	SCAF4	c.3227G>A	NM_020706.2	NP_065757.1:p.(Arg1076Gln)	NC_000021.8:g.33043929C>T	VUS	1 lab	dedcaf53bf
8:67705845 SGK3 G>T	8	67705845	67705845	G	T	SGK3	c.-121-6G>T	NM_001033578.3	NP_001028750.1:p.?	NC_000008.10:g.67705845G>T	(Likely) benign	1 lab	dedfe82d4f
15:49034199 CEP152 G>A	15	49034199	49034199	G	A	CEP152	c.3934C>T	NM_001194998.2	NP_001181927.1:p.(Arg1312Cys)	NC_000015.9:g.49034199G>A	VUS	1 lab	dee092a7ea
2:238253302 COL6A3 C>T	2	238253302	238253302	C	T	COL6A3	c.7359G>A	NM_004369.4	NP_004360.2:p.(Glu2453=)	NC_000002.11:g.238253302C>T	(Likely) benign	1 lab	dee227daa8
22:29121211 CHEK2 C>A	22	29121211	29121211	C	A	CHEK2	c.444+20G>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121211C>A	(Likely) benign	1 lab	dee2d98cdd
16:30381456 TBC1D10B C>G	16	30381456	30381456	C	G	TBC1D10B	c.49G>C	NM_015527.4	NP_056342.3:p.(Ala17Pro)	NC_000016.9:g.30381456C>G	VUS	1 lab	dee86e78ac
16:1842018 IGFALS A>T	16	1842018	1842018	A	T	IGFALS	c.401T>A	NM_004970.3	NP_004961.1:p.(Leu134Gln)	NC_000016.9:g.1842018A>T	VUS	1 lab	deea235f96
2:219251920 SLC11A1 G>A	2	219251920	219251920	G	A	SLC11A1	c.538G>A	NM_000578.4	NP_000569.3:p.(Asp180Asn)	NC_000002.11:g.219251920G>A	VUS	1 lab	deeaa67731
15:89401302 ACAN T>A	15	89401302	89401302	T	A	ACAN	c.5486T>A	NM_001369268.1	NP_001356197.1:p.(Ile1829Asn)	NC_000015.9:g.89401302T>A	VUS	1 lab	deeadb9bae
19:7584923 ZNF358 C>G	19	7584923	7584923	C	G	ZNF358	c.795C>G	NM_018083.5	NP_060553.4:p.(Cys265Trp)	NC_000019.9:g.7584923C>G	VUS	1 lab	deeb204091
1:16256621 SPEN C>G	1	16256621	16256621	C	G	SPEN	c.3886C>G	NM_015001.3	NP_055816.2:p.(Pro1296Ala)	NC_000001.10:g.16256621C>G	(Likely) benign	1 lab	deec4a5a36
16:30740816 SRCAP G>A	16	30740816	30740816	G	A	SRCAP	c.6050G>A	NM_006662.3	NP_006653.2:p.(Arg2017Gln)	NC_000016.9:g.30740816G>A	VUS	1 lab	deec9053e1
2:170063688 LRP2 C>T	2	170063688	170063688	C	T	LRP2	c.6542G>A	NM_004525.3	NP_004516.2:p.(Arg2181His)	NC_000002.11:g.170063688C>T	VUS	1 lab	deecde91be
6:24523143 ALDH5A1 C>T	6	24523143	24523143	C	T	ALDH5A1	c.1163C>T	NM_001080.3	NP_001071.1:p.(Ala388Val)	NC_000006.11:g.24523143C>T	VUS	1 lab	deed69aa69
9:88692506 GOLM1 T>C	9	88692506	88692506	T	C	GOLM1	c.130A>G	NM_016548.4	NP_057632.2:p.(Thr44Ala)	NC_000009.11:g.88692506T>C	(Likely) benign	1 lab	deed84bb5b
16:3778687 CREBBP G>A	16	3778687	3778687	G	A	CREBBP	c.6361C>T	NM_004380.3	NP_004371.2:p.(Leu2121Phe)	NC_000016.9:g.3778687G>A	(Likely) benign	1 lab	deedcbc0b8
8:38297832 FGFR1 G>A	8	38297832	38297832	G	A	FGFR1	c.92-10366C>T	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38297832G>A	(Likely) benign	1 lab	deef1f2383
16:81654484 CMIP G>A	16	81654484	81654484	G	A	CMIP	c.430G>A	NM_198390.3	NP_938204.2:p.(Ala144Thr)	NC_000016.9:g.81654484G>A	VUS	1 lab	def01d59bf
1:213415977 RPS6KC1 A>G	1	213415977	213415977	A	G	RPS6KC1	c.2887A>G	NM_012424.6	NP_036556.2:p.(Ile963Val)	NC_000001.10:g.213415977A>G	(Likely) benign	1 lab	def02b8a7a
16:2160473 PKD1 G>A	16	2160473	2160473	G	A	PKD1	c.4695C>T	NM_001009944.3	NP_001009944.3:p.(Ser1565=)	NC_000016.9:g.2160473G>A	(Likely) benign	1 lab	def05d43b4
2:86304983 POLR1A A>C	2	86304983	86304983	A	C	POLR1A	c.1379T>G	NM_015425.6	NP_056240.2:p.(Met460Arg)	NC_000002.11:g.86304983A>C	(Likely) benign	1 lab	def12d58e6
7:75612885 POR G>A	7	75612885	75612885	G	A	POR	c.878G>A	NM_000941.3	NP_000932.3:p.(Arg293Gln)	NC_000007.13:g.75612885G>A	VUS	1 lab	def232457f
4:1978259 NSD2 C>T	4	1978259	1978259	C	T	NSD2	c.3679C>T	NM_001042424.3	NP_001035889.1:p.(Arg1227Trp)	NC_000004.11:g.1978259C>T	VUS	1 lab	def2900438
19:51169949 SHANK1 C>A	19	51169949	51169949	C	A	SHANK1	c.5268G>T	NM_016148.5	NP_057232.2:p.(Lys1756Asn)	NC_000019.9:g.51169949C>A	VUS	1 lab	def2aa5053
6:129618874 LAMA2 C>A	6	129618874	129618874	C	A	LAMA2	c.2901C>A	NM_000426.4	NP_000417.3:p.(Cys967Ter)	NC_000006.11:g.129618874C>A	(Likely) pathogenic	1 lab	def3e125e5
X:20034328 MAP7D2 C>T	X	20034328	20034328	C	T	MAP7D2	c.1528G>A	NM_001168465.2	NP_001161937.1:p.(Glu510Lys)	NC_000023.10:g.20034328C>T	VUS	1 lab	def42db67d
9:82242327 TLE4 G>C	9	82242327	82242327	G	C	TLE4	c.354G>C	NM_007005.6	NP_008936.2:p.(Lys118Asn)	NC_000009.11:g.82242327G>C	VUS	1 lab	def4c4d696
8:145700016 FOXH1 C>A	8	145700016	145700016	C	A	FOXH1	c.703G>T	NM_003923.3	NP_003914.1:p.(Gly235Trp)	NC_000008.10:g.145700016C>A	VUS	1 lab	def5fece99
2:175629103 CHRNA1 A>C	2	175629103	175629103	A	C	CHRNA1	c.20T>G	NM_000079.4	NP_000070.1:p.(Leu7Arg)	NC_000002.11:g.175629103A>C	(Likely) benign	1 lab	def7db5cd5
19:42485803 ATP1A3 G>T	19	42485803	42485803	G	T	ATP1A3	c.1342-15C>A	NM_001256214.2	NP_001243143.1:p.?	NC_000019.9:g.42485803G>T	(Likely) benign	1 lab	d99077a064
1:3649636 TP73 T>G	1	3649636	3649636	T	G	TP73	c.1904T>G	NM_005427.4	NP_005418.1:p.(Ile635Ser)	NC_000001.10:g.3649636T>G	VUS	1 lab	def915cb64
12:75601151 KCNC2 A>G	12	75601151	75601151	A	G	KCNC2	c.613T>C	NM_139137.4	NP_631875.1:p.(Ser205Pro)	NC_000012.11:g.75601151A>G	VUS	1 lab	defa6063ca
X:70824234 GCNA T>C	X	70824234	70824234	T	C	GCNA	c.1107T>C	NM_052957.5	NP_443189.1:p.(Asp369=)	NC_000023.10:g.70824234T>C	(Likely) benign	1 lab	defda45af3
8:24168874 ADAM28 G>A	8	24168874	24168874	G	A	ADAM28	c.307G>A	NM_014265.6	NP_055080.2:p.(Asp103Asn)	NC_000008.10:g.24168874G>A	VUS	1 lab	defe4a7850
X:53619352 HUWE1 C>T	X	53619352	53619352	C	T	HUWE1	c.3972+6G>A	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53619352C>T	(Likely) benign	1 lab	deffd976a1
20:61468558 COL9A3 C>T	20	61468558	61468558	C	T	COL9A3	c.1727C>T	NM_001853.4	NP_001844.3:p.(Ala576Val)	NC_000020.10:g.61468558C>T	VUS	1 lab	df007d0cd1
15:52606013 MYO5A C>G	15	52606013	52606013	C	G	MYO5A	c.5523G>C	NM_001382347.1	NP_001369276.1:p.(Gln1841His)	NC_000015.9:g.52606013C>G	VUS	1 lab	df02a21c86
13:111164328 COL4A2 G>A	13	111164328	111164328	G	A	COL4A2	c.4929G>A	NM_001846.4	NP_001837.2:p.(Pro1643=)	NC_000013.10:g.111164328G>A	(Likely) benign	1 lab	df036b0912
3:122437808 PARP14 G>A	3	122437808	122437808	G	A	PARP14	c.4807+3G>A	NM_017554.3	NP_060024.2:p.?	NC_000003.11:g.122437808G>A	(Likely) benign	1 lab	df040c22df
18:21157331 NPC1 T>TGATTGGTGTGTTTACAAACCTTGAGCTAGACATAAAGGTTCTCCACGTCCTCACCAGAGCAGCTAGATACAGTGTCGATTGGAGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATAGACTGCC	18	21157331	21157341	T	TGATTGGTGTGTTTACAAACCTTGAGCTAGACATAAAGGTTCTCCACGTCCTCACCAGAGCAGCTAGATACAGTGTCGATTGGAGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATAGACTGCC	NPC1	c.58-3794_58-3793insGGCAGTCTATCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCCTGTGTTTAGCTCAAGGTTTGTGAGTGCTCCAATCGACACTGTATCTAGCTGCTCTGGTGAGGACGTGGAGAACCTTTATGTCTAGCTCAAGGTTTGTAAACACACCAATC	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21157340_21157341insGTTTACAAACCTTGAGCTAGACATAAAGGTTCTCCACGTCCTCACCAGAGCAGCTAGATACAGTGTCGATTGGAGCACTCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATAGACTGCCGATTGGTGT	(Likely) benign	1 lab	2c8355eede
2:70524369 TIMCC T>G	2	70524369	70524369	T	G	TIMCC	c.*52A>C	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524369T>G	VUS	1 lab	df085bad25
3:151154667 IGSF10 G>A	3	151154667	151154667	G	A	IGSF10	c.7682C>T	NM_178822.5	NP_849144.2:p.(Thr2561Ile)	NC_000003.11:g.151154667G>A	(Likely) benign	1 lab	df08d5831a
8:144995722 PLEC T>C	8	144995722	144995722	T	C	PLEC	c.8267A>G	NM_201384.3	NP_958786.1:p.(Glu2756Gly)	NC_000008.10:g.144995722T>C	VUS	1 lab	df0a1ce12c
20:62120264 EEF1A2 G>A	20	62120264	62120264	G	A	EEF1A2	c.1264+7C>T	NM_001958.5	NP_001949.1:p.?	NC_000020.10:g.62120264G>A	(Likely) benign	1 lab	df0a4acb9e
12:49420018 KMT2D T>C	12	49420018	49420018	T	C	KMT2D	c.15731A>G	NM_003482.4	NP_003473.3:p.(Lys5244Arg)	NC_000012.11:g.49420018T>C	(Likely) benign	1 lab	df0eb0e4b4
10:73565917 CDH23 G>A	10	73565917	73565917	G	A	CDH23	c.8065-8G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73565917G>A	(Likely) benign	1 lab	df0f910c91
12:124221811 ATP6V0A2 A>G	12	124221811	124221811	A	G	ATP6V0A2	c.1031A>G	NM_012463.4	NP_036595.2:p.(Glu344Gly)	NC_000012.11:g.124221811A>G	VUS	1 lab	df11b40a83
4:6302405 WFS1 G>A	4	6302405	6302405	G	A	WFS1	c.883G>A	NM_006005.3	NP_005996.2:p.(Ala295Thr)	NC_000004.11:g.6302405G>A	VUS	1 lab	df120d57f5
6:7583137 DSP T>C	6	7583137	7583137	T	C	DSP	c.5642T>C	NM_004415.4	NP_004406.2:p.(Ile1881Thr)	NC_000006.11:g.7583137T>C	VUS	1 lab	df12388e7c
X:47001990 NDUFB11 A>G	X	47001990	47001990	A	G	NDUFB11	c.338+23T>C	NM_001135998.3	NP_001129470.1:p.?	NC_000023.10:g.47001990A>G	VUS	1 lab	df134b2465
22:32019800 PISD A>C	22	32019800	32019800	A	C	PISD	c.322-1929T>G	NM_001326411.2	NP_001313340.1:p.?	NC_000022.10:g.32019800A>C	VUS	1 lab	df139139b7
11:63531642 ZFTA C>A	11	63531642	63531642	C	A	ZFTA	c.1453G>T	NM_001144936.2	NP_001138408.1:p.(Ala485Ser)	NC_000011.9:g.63531642C>A	VUS	1 lab	df1404fad6
9:140648281 EHMT1 G>A	9	140648281	140648281	G	A	EHMT1	c.1249-342G>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140648281G>A	(Likely) benign	1 lab	df154e50b6
16:67964628 CTRL C>G	16	67964628	67964628	C	G	CTRL	c.318+1G>C	NM_001907.3	NP_001898.1:p.?	NC_000016.9:g.67964628C>G	VUS	1 lab	df162ed546
12:109924385 UBE3B C>CAAAAAAAAAAAAAA	12	109924385	109924408	C	CAAAAAAAAAAAAAA	UBE3B	c.447+15_447+28dup	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924395_109924408dup	VUS	1 lab	df16419652
X:13769462 OFD1 C>T	X	13769462	13769462	C	T	OFD1	c.1030C>T	NM_003611.3	NP_003602.1:p.(Arg344Ter)	NC_000023.10:g.13769462C>T	VUS	1 lab	df16575a8c
2:47702289 MSH2 C>T	2	47702289	47702289	C	T	MSH2	c.1885C>T	NM_000251.3	NP_000242.1:p.(Gln629Ter)	NC_000002.11:g.47702289C>T	(Likely) pathogenic	1 lab	df178507e2
1:201182387 IGFN1 AG>A	1	201182387	201182390	AG	A	IGFN1	c.8369del	NM_001164586.2	NP_001158058.1:p.(Gly2790ValfsTer5)	NC_000001.10:g.201182390del	VUS	1 lab	df1924da08
19:1469151 APC2 CCGGGCCCCAGGGGCCGGGCGGGGACCGAGG>C	19	1469151	1469188	CCGGGCCCCAGGGGCCGGGCGGGGACCGAGG	C	APC2	c.5859_5888del	NM_005883.3	NP_005874.1:p.(Arg1954_Pro1963del)	NC_000019.9:g.1469159_1469188del	VUS	1 lab	df1aae3d97
3:58132565 FLNB T>C	3	58132565	58132565	T	C	FLNB	c.5573T>C	NM_001457.4	NP_001448.2:p.(Ile1858Thr)	NC_000003.11:g.58132565T>C	VUS	1 lab	df1dee87c5
7:100246867 ACTL6B G>A	7	100246867	100246867	G	A	ACTL6B	c.468-421C>T	NM_016188.5	NP_057272.1:p.?	NC_000007.13:g.100246867G>A	(Likely) benign	1 lab	df20768454
1:104093571 RNPC3 T>C	1	104093571	104093571	T	C	RNPC3	c.1370T>C	NM_017619.4	NP_060089.1:p.(Ile457Thr)	NC_000001.10:g.104093571T>C	VUS	1 lab	df20ce0dd0
12:66605300 IRAK3 A>G	12	66605300	66605300	A	G	IRAK3	c.511A>G	NM_007199.3	NP_009130.2:p.(Ile171Val)	NC_000012.11:g.66605300A>G	VUS	1 lab	df211cfed2
5:121413386 LOX T>C	5	121413386	121413386	T	C	LOX	c.295A>G	NM_002317.7	NP_002308.2:p.(Thr99Ala)	NC_000005.9:g.121413386T>C	VUS	1 lab	df21beef06
17:56565433 HSF5 T>TCGGCCC	17	56565433	56565446	T	TCGGCCC	HSF5	c.197_202dup	NM_001080439.3	NP_001073908.2:p.(Gly66_Ala67dup)	NC_000017.10:g.56565441_56565446dup	(Likely) benign	1 lab	df2347404d
14:92909744 SLC24A4 G>C	14	92909744	92909744	G	C	SLC24A4	c.583G>C	NM_153646.4	NP_705932.2:p.(Val195Leu)	NC_000014.8:g.92909744G>C	VUS	1 lab	df24b8fdb0
11:32456847 WT1 C>A	11	32456847	32456847	C	A	WT1	c.60G>T	NM_024426.6	NP_077744.4:p.(Gln20His)	NC_000011.9:g.32456847C>A	(Likely) benign	1 lab	df25be3776
20:19955559 RIN2 A>T	20	19955559	19955559	A	T	RIN2	c.890A>T	NM_018993.4	NP_061866.1:p.(Asn297Ile)	NC_000020.10:g.19955559A>T	(Likely) benign	1 lab	df265434b9
10:100503652 HPSE2 C>G	10	100503652	100503652	C	G	HPSE2	c.772G>C	NM_021828.5	NP_068600.4:p.(Glu258Gln)	NC_000010.10:g.100503652C>G	VUS	1 lab	df267c556f
12:49426735 KMT2D TGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCA>T	12	49426735	49426790	TGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCA	T	KMT2D	c.11717_11752del	NM_003482.4	NP_003473.3:p.(Leu3906_Gln3917del)	NC_000012.11:g.49426755_49426790del	(Likely) benign	1 lab	df283e47a3
15:74487636 STRA6 C>T	15	74487636	74487636	C	T	STRA6	c.597+7G>A	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74487636C>T	(Likely) benign	1 lab	df297be6ea
2:242157804 ANO7 C>G	2	242157804	242157804	C	G	ANO7	c.2321+8C>G	NM_001370694.2	NP_001357623.1:p.?	NC_000002.11:g.242157804C>G	(Likely) benign	1 lab	df29cae4e5
2:179430385 TTN T>C	2	179430385	179430385	T	C	TTN	c.80474A>G	NM_001267550.2	NP_001254479.2:p.(Glu26825Gly)	NC_000002.11:g.179430385T>C	VUS	1 lab	df2aeed1a5
19:1056117 ABCA7 G>A	19	1056117	1056117	G	A	ABCA7	c.4291G>A	NM_019112.4	NP_061985.2:p.(Glu1431Lys)	NC_000019.9:g.1056117G>A	VUS	1 lab	df2b1d8b21
15:90209096 PLIN1 C>CCGG	15	90209096	90209101	C	CCGG	PLIN1	c.1284_1286dup	NM_002666.5	NP_002657.3:p.(Arg429dup)	NC_000015.9:g.90209099_90209101dup	(Likely) benign	1 lab	df2e4045f0
12:49312681 DRC2 G>T	12	49312681	49312681	G	T	DRC2	c.1021G>T	NM_033124.5	NP_149115.2:p.(Asp341Tyr)	NC_000012.11:g.49312681G>T	(Likely) benign	1 lab	df2ec0e481
1:201021678 CACNA1S C>T	1	201021678	201021678	C	T	CACNA1S	c.3953+7G>A	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201021678C>T	(Likely) benign	1 lab	2ee63977de
1:226040407 TMEM63A T>A	1	226040407	226040407	T	A	TMEM63A	c.1861A>T	NM_014698.3	NP_055513.2:p.(Ile621Phe)	NC_000001.10:g.226040407T>A	VUS	1 lab	df3197967d
1:6202630 CHD5 G>A	1	6202630	6202630	G	A	CHD5	c.2079C>T	NM_015557.3	NP_056372.1:p.(Ile693=)	NC_000001.10:g.6202630G>A	VUS	1 lab	df33ec0f66
18:6977881 LAMA1 C>G	18	6977881	6977881	C	G	LAMA1	c.6191-1G>C	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6977881C>G	VUS	1 lab	df33f66708
9:96428335 PHF2 C>T	9	96428335	96428335	C	T	PHF2	c.2180C>T	NM_005392.4	NP_005383.3:p.(Ala727Val)	NC_000009.11:g.96428335C>T	(Likely) benign	1 lab	df34a7bc60
22:40078583 CACNA1I C>T	22	40078583	40078583	C	T	CACNA1I	c.5747C>T	NM_021096.4	NP_066919.2:p.(Pro1916Leu)	NC_000022.10:g.40078583C>T	(Likely) benign	1 lab	df350c9967
3:132419209 NPHP3 G>C	3	132419209	132419209	G	C	NPHP3	c.1712C>G	NM_153240.5	NP_694972.3:p.(Ser571Cys)	NC_000003.11:g.132419209G>C	VUS	1 lab	df35a81ff5
2:163144689 IFIH1 T>C	2	163144689	163144689	T	C	IFIH1	c.1051A>G	NM_022168.4	NP_071451.2:p.(Lys351Glu)	NC_000002.11:g.163144689T>C	(Likely) benign	1 lab	df37aab93e
19:54647849 CNOT3 A>C	19	54647849	54647849	A	C	CNOT3	c.366A>C	NM_014516.4	NP_055331.1:p.(Glu122Asp)	NC_000019.9:g.54647849A>C	(Likely) benign	1 lab	df391a85d3
15:91461945 MAN2A2 C>A	15	91461945	91461945	C	A	MAN2A2	c.3260C>A	NM_006122.4	NP_006113.2:p.(Ala1087Asp)	NC_000015.9:g.91461945C>A	VUS	1 lab	df3ba951c1
14:99969200 CCNK C>G	14	99969200	99969200	C	G	CCNK	c.890C>G	NM_001099402.2	NP_001092872.1:p.(Ser297Cys)	NC_000014.8:g.99969200C>G	(Likely) benign	1 lab	df3bb4a6bf
17:7810698 CHD3 C>T	17	7810698	7810698	C	T	CHD3	c.4816C>T	NM_001005273.3	NP_001005273.1:p.(Leu1606Phe)	NC_000017.10:g.7810698C>T	VUS	1 lab	df3d9b5ab0
8:99306266 NIPAL2 C>G	8	99306266	99306266	C	G	NIPAL2	c.100G>C	NM_001321635.2	NP_001308564.1:p.(Gly34Arg)	NC_000008.10:g.99306266C>G	VUS	1 lab	df3e81bd61
1:247587721 NLRP3 G>A	1	247587721	247587721	G	A	NLRP3	c.970G>A	NM_001243133.2	NP_001230062.1:p.(Glu324Lys)	NC_000001.10:g.247587721G>A	VUS	1 lab	df417ee352
17:40854581 EZH1 A>G	17	40854581	40854581	A	G	EZH1	c.2213T>C	NM_001991.5	NP_001982.2:p.(Val738Ala)	NC_000017.10:g.40854581A>G	VUS	1 lab	df42385518
19:54692208 MBOAT7 G>C	19	54692208	54692208	G	C	MBOAT7	c.77-8C>G	NM_024298.5	NP_077274.3:p.?	NC_000019.9:g.54692208G>C	(Likely) benign	1 lab	df429a3fb1
12:31238033 DDX11 G>A	12	31238033	31238033	G	A	DDX11	c.611G>A	NM_030653.4	NP_085911.2:p.(Ser204Asn)	NC_000012.11:g.31238033G>A	(Likely) benign	1 lab	df4581f356
X:140994488 MAGEC1 G>C	X	140994488	140994488	G	C	MAGEC1	c.1298G>C	NM_005462.5	NP_005453.2:p.(Ser433Thr)	NC_000023.10:g.140994488G>C	(Likely) benign	1 lab	df46744814
9:130167188 SLC2A8 G>A	9	130167188	130167188	G	A	SLC2A8	c.1068G>A	NM_014580.5	NP_055395.2:p.(Ser356=)	NC_000009.11:g.130167188G>A	VUS	1 lab	df46e44777
1:241725512 KMO A>T	1	241725512	241725512	A	T	KMO	c.495A>T	NM_003679.5	NP_003670.2:p.(Gly165=)	NC_000001.10:g.241725512A>T	(Likely) benign	1 lab	df4894693f
17:76993426 CANT1 CAG>C	17	76993426	76993428	CAG	C	CANT1	c.277_278del	NM_001159773.2	NP_001153245.1:p.(Leu93ValfsTer89)	NC_000017.10:g.76993427_76993428del	(Likely) pathogenic	1 lab	df48a3b581
3:53760991 CACNA1D G>C	3	53760991	53760991	G	C	CACNA1D	c.2186G>C	NM_001128840.3	NP_001122312.1:p.(Cys729Ser)	NC_000003.11:g.53760991G>C	VUS	1 lab	df48c36509
1:160268772 COPA T>C	1	160268772	160268772	T	C	COPA	c.1840A>G	NM_004371.4	NP_004362.2:p.(Met614Val)	NC_000001.10:g.160268772T>C	VUS	1 lab	2c90a54ccd
11:108188231 ATM C>G	11	108188231	108188231	C	G	ATM	c.6330C>G	NM_000051.4	NP_000042.3:p.(Asp2110Glu)	NC_000011.9:g.108188231C>G	VUS	1 lab	df4c9c4937
X:15543470 BMX C>G	X	15543470	15543470	C	G	BMX	c.812C>G	NM_203281.3	NP_975010.1:p.(Thr271Ser)	NC_000023.10:g.15543470C>G	(Likely) benign	1 lab	df4d561529
16:72055110 DHODH G>A	16	72055110	72055110	G	A	DHODH	c.605G>A	NM_001361.5	NP_001352.2:p.(Gly202Asp)	NC_000016.9:g.72055110G>A	(Likely) pathogenic	1 lab	df4f2fa5bb
12:57639002 STAC3 G>A	12	57639002	57639002	G	A	STAC3	c.604-8C>T	NM_145064.3	NP_659501.1:p.?	NC_000012.11:g.57639002G>A	(Likely) benign	1 lab	df4ff5e568
5:127469977 SLC12A2 G>A	5	127469977	127469977	G	A	SLC12A2	c.1299+10G>A	NM_001046.3	NP_001037.1:p.?	NC_000005.9:g.127469977G>A	(Likely) benign	1 lab	df50b26194
17:80044959 FASN C>T	17	80044959	80044959	C	T	FASN	c.3394G>A	NM_004104.5	NP_004095.4:p.(Ala1132Thr)	NC_000017.10:g.80044959C>T	(Likely) benign	1 lab	df5105be90
20:39316874 MAFB C>T	20	39316874	39316874	C	T	MAFB	c.617G>A	NM_005461.5	NP_005452.2:p.(Ser206Asn)	NC_000020.10:g.39316874C>T	(Likely) benign	1 lab	df5366b0c1
9:138710849 CAMSAP1 C>T	9	138710849	138710849	C	T	CAMSAP1	c.3959+7G>A	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138710849C>T	(Likely) benign	1 lab	df5375e77e
9:79323007 PRUNE2 C>T	9	79323007	79323007	C	T	PRUNE2	c.4183G>A	NM_015225.3	NP_056040.2:p.(Glu1395Lys)	NC_000009.11:g.79323007C>T	(Likely) benign	1 lab	df5489bee4
12:24102582 SOX5 G>A	12	24102582	24102582	G	A	SOX5	c.-47C>T	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.24102582G>A	(Likely) benign	1 lab	df96ddb683
1:27874638 AHDC1 G>A	1	27874638	27874638	G	A	AHDC1	c.3989C>T	NM_001029882.3	NP_001025053.1:p.(Ser1330Leu)	NC_000001.10:g.27874638G>A	(Likely) benign	1 lab	2c9100f917
2:70524320 TIMCC C>A	2	70524320	70524320	C	A	TIMCC	c.*101G>T	NM_001329752.2	NP_001316681.1:p.?	NC_000002.11:g.70524320C>A	VUS	1 lab	df55d7b24c
7:50435897 IKZF1 C>A	7	50435897	50435897	C	A	IKZF1	c.161-8334C>A	NM_006060.6	NP_006051.1:p.?	NC_000007.13:g.50435897C>A	VUS	1 lab	df5744f7f9
5:58272200 PDE4D CAAG>C	5	58272200	58272211	CAAG	C	PDE4D	c.1804_1806del	NM_001104631.2	NP_001098101.1:p.(Leu602del)	NC_000005.9:g.58272209_58272211del	VUS	1 lab	df57c95c12
4:184930403 STOX2 A>T	4	184930403	184930403	A	T	STOX2	c.412A>T	NM_020225.3	NP_064610.1:p.(Ile138Phe)	NC_000004.11:g.184930403A>T	VUS	1 lab	df59cf2376
7:44190601 GCK A>C	7	44190601	44190601	A	C	GCK	c.437T>G	NM_000162.5	NP_000153.1:p.(Leu146Arg)	NC_000007.13:g.44190601A>C	(Likely) pathogenic	1 lab	df5b78313b
6:51917907 PKHD1 C>T	6	51917907	51917907	C	T	PKHD1	c.2107G>A	NM_138694.4	NP_619639.3:p.(Asp703Asn)	NC_000006.11:g.51917907C>T	(Likely) pathogenic	1 lab	df5c4ab4e1
2:141093334 LRP1B G>A	2	141093334	141093334	G	A	LRP1B	c.11966C>T	NM_018557.3	NP_061027.2:p.(Ser3989Phe)	NC_000002.11:g.141093334G>A	VUS	1 lab	df5dc3aef1
8:22033710 BMP1 G>A	8	22033710	22033710	G	A	BMP1	c.317G>A	NM_006129.5	NP_006120.1:p.(Arg106Lys)	NC_000008.10:g.22033710G>A	(Likely) benign	1 lab	df5dd042d9
3:58124238 FLNB C>T	3	58124238	58124238	C	T	FLNB	c.5091C>T	NM_001457.4	NP_001448.2:p.(Asn1697=)	NC_000003.11:g.58124238C>T	(Likely) benign	1 lab	df5e9d2850
18:48452307 ME2 C>T	18	48452307	48452307	C	T	ME2	c.1314+39C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48452307C>T	(Likely) benign	1 lab	2ee760a633
15:64506176 CSNK1G1 C>T	15	64506176	64506176	C	T	CSNK1G1	c.592G>A	NM_022048.5	NP_071331.2:p.(Glu198Lys)	NC_000015.9:g.64506176C>T	(Likely) benign	1 lab	df654e3cf7
1:154574370 ADAR C>A	1	154574370	154574370	C	A	ADAR	c.748G>T	NM_001111.5	NP_001102.3:p.(Ala250Ser)	NC_000001.10:g.154574370C>A	(Likely) benign	1 lab	2c91c4fb77
12:21598400 PYROXD1 C>T	12	21598400	21598400	C	T	PYROXD1	c.285C>T	NM_024854.5	NP_079130.2:p.(His95=)	NC_000012.11:g.21598400C>T	(Likely) benign	1 lab	df6894b6d8
2:212587189 ERBB4 G>A	2	212587189	212587189	G	A	ERBB4	c.812C>T	NM_005235.3	NP_005226.1:p.(Thr271Ile)	NC_000002.11:g.212587189G>A	VUS	1 lab	df68e5ca17
X:18959796 PHKA2 G>A	X	18959796	18959796	G	A	PHKA2	c.718-3C>T	NM_000292.3	NP_000283.1:p.?	NC_000023.10:g.18959796G>A	(Likely) benign	1 lab	df6add44ae
10:103343284 POLL G>A	10	103343284	103343284	G	A	POLL	c.1046C>T	NM_001174084.2	NP_001167555.1:p.(Ala349Val)	NC_000010.10:g.103343284G>A	VUS	1 lab	df6bd77a4f
19:42752702 ERF GCCTCCCCAGGCC>G	19	42752702	42752722	GCCTCCCCAGGCC	G	ERF	c.1550_1561del	NM_006494.4	NP_006485.2:p.(Gly517_Glu520del)	NC_000019.9:g.42752711_42752722del	VUS	1 lab	df6d0b74b6
1:155823547 GON4L TTCTTC>T	1	155823547	155823558	TTCTTC	T	GON4L	c.20_24del	NM_001282860.2	NP_001269789.1:p.(Arg7AsnfsTer10)	NC_000001.10:g.155823554_155823558del	VUS	1 lab	df70c88556
17:7606071 WRAP53 T>A	17	7606071	7606071	T	A	WRAP53	c.1175T>A	NM_001143992.2	NP_001137464.1:p.(Leu392His)	NC_000017.10:g.7606071T>A	VUS	1 lab	df72b451b6
17:7752295 KDM6B CAA>C	17	7752295	7752297	CAA	C	KDM6B	c.2690_2691del	NM_001348716.2	NP_001335645.1:p.(Gln897ProfsTer13)	NC_000017.10:g.7752296_7752297del	(Likely) benign	1 lab	df744c4c62
X:47847922 ZNF182 A>G	X	47847922	47847922	A	G	ZNF182	c.16-5111T>C	NM_001007088.2	NP_001007089.1:p.?	NC_000023.10:g.47847922A>G	VUS	1 lab	df7518cbb0
10:74135532 MICU1 C>T	10	74135532	74135532	C	T	MICU1	c.1270+9G>A	NM_001195518.2	NP_001182447.1:p.?	NC_000010.10:g.74135532C>T	(Likely) benign	1 lab	df76ef4be9
9:117713 FOXD4 T>C	9	117713	117713	T	C	FOXD4	c.407A>G	NM_207305.5	NP_997188.2:p.(Asp136Gly)	NC_000009.11:g.117713T>C	(Likely) benign	1 lab	2c97feb18a
2:32836549 BIRC6 A>G	2	32836549	32836549	A	G	BIRC6	c.14294A>G	NM_016252.4	NP_057336.3:p.(Glu4765Gly)	NC_000002.11:g.32836549A>G	VUS	1 lab	df7c51bc73
X:38535000 TSPAN7 C>A	X	38535000	38535000	C	A	TSPAN7	c.483C>A	NM_004615.4	NP_004606.2:p.(Thr161=)	NC_000023.10:g.38535000C>A	(Likely) benign	1 lab	2c98aee7d8
8:134057273 SLA C>A	8	134057273	134057273	C	A	SLA	c.440G>T	NM_001045556.3	NP_001039021.1:p.(Arg147Met)	NC_000008.10:g.134057273C>A	VUS	1 lab	df7f455d51
9:139413937 NOTCH1 C>T	9	139413937	139413937	C	T	NOTCH1	c.823G>A	NM_017617.5	NP_060087.3:p.(Gly275Ser)	NC_000009.11:g.139413937C>T	VUS	1 lab	df802080ac
3:126733030 PLXNA1 C>G	3	126733030	126733030	C	G	PLXNA1	c.2416C>G	NM_032242.4	NP_115618.3:p.(Leu806Val)	NC_000003.11:g.126733030C>G	VUS	1 lab	df8140de26
11:57505374 TMX2 CTG>C	11	57505374	57505379	CTG	C	TMX2	c.251-7_251-6del	NM_015959.4	NP_057043.1:p.?	NC_000011.9:g.57505378_57505379del	VUS	1 lab	df83b560b7
9:133346217 ASS1 G>C	9	133346217	133346217	G	C	ASS1	c.496-4G>C	NM_054012.4	NP_446464.1:p.?	NC_000009.11:g.133346217G>C	(Likely) benign	1 lab	df84b5759e
21:46925306 COL18A1 G>GC	21	46925306	46925311	G	GC	COL18A1	c.3053dup	NM_001379500.1	NP_001366429.1:p.(Gly1019TrpfsTer68)	NC_000021.8:g.46925311dup	VUS	1 lab	df84cf8d4d
16:90089141 DRC4 G>A	16	90089141	90089141	G	A	DRC4	c.3+9G>A	NM_001481.3	NP_001472.1:p.?	NC_000016.9:g.90089141G>A	(Likely) benign	1 lab	dfa8ae1e78
3:53756352 CACNA1D G>A	3	53756352	53756352	G	A	CACNA1D	c.1517G>A	NM_001128840.3	NP_001122312.1:p.(Arg506His)	NC_000003.11:g.53756352G>A	(Likely) benign	1 lab	df84fbff32
12:64174938 RXYLT1 G>A	12	64174938	64174938	G	A	RXYLT1	c.309G>A	NM_014254.3	NP_055069.1:p.(Trp103Ter)	NC_000012.11:g.64174938G>A	VUS	1 lab	df854cb65c
12:49434099 KMT2D G>C	12	49434099	49434099	G	C	KMT2D	c.7454C>G	NM_003482.4	NP_003473.3:p.(Ala2485Gly)	NC_000012.11:g.49434099G>C	VUS	1 lab	df85d2c50a
12:49428064 KMT2D T>A	12	49428064	49428064	T	A	KMT2D	c.10526A>T	NM_003482.4	NP_003473.3:p.(Gln3509Leu)	NC_000012.11:g.49428064T>A	VUS	1 lab	df85f8ba08
X:41043322 USP9X C>T	X	41043322	41043322	C	T	USP9X	c.3220C>T	NM_001039591.3	NP_001034680.2:p.(Pro1074Ser)	NC_000023.10:g.41043322C>T	VUS	1 lab	df88d5be76
2:152536234 NEB C>G	2	152536234	152536234	C	G	NEB	c.3255+1G>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152536234C>G	(Likely) pathogenic	1 lab	df905c7369
10:73437238 CDH23 CTCA>C	10	73437238	73437245	CTCA	C	CDH23	c.1545_1547del	NM_022124.6	NP_071407.4:p.(Ile515del)	NC_000010.10:g.73437243_73437245del	VUS	1 lab	df9315ec5e
4:6303292 WFS1 G>A	4	6303292	6303292	G	A	WFS1	c.1770G>A	NM_006005.3	NP_005996.2:p.(Thr590=)	NC_000004.11:g.6303292G>A	(Likely) benign	1 lab	df98b30799
5:140626668 PCDHB15 A>G	5	140626668	140626668	A	G	PCDHB15	c.1522A>G	NM_018935.4	NP_061758.1:p.(Thr508Ala)	NC_000005.9:g.140626668A>G	(Likely) benign	1 lab	df994f10e7
9:36117065 RECK C>T	9	36117065	36117065	C	T	RECK	c.2144C>T	NM_021111.3	NP_066934.1:p.(Ala715Val)	NC_000009.11:g.36117065C>T	VUS	1 lab	df9c726577
4:36292042 DTHD1 A>T	4	36292042	36292042	A	T	DTHD1	c.935A>T	NM_001170700.3	NP_001164171.2:p.(Tyr312Phe)	NC_000004.11:g.36292042A>T	(Likely) benign	1 lab	df9c9af0fd
12:48272811 VDR T>C	12	48272811	48272811	T	C	VDR	c.86A>G	NM_000376.3	NP_000367.1:p.(Asp29Gly)	NC_000012.11:g.48272811T>C	VUS	1 lab	df9de799f4
20:30915351 KIF3B A>C	20	30915351	30915351	A	C	KIF3B	c.1863-8A>C	NM_004798.4	NP_004789.1:p.?	NC_000020.10:g.30915351A>C	(Likely) benign	1 lab	dfa09a7148
1:158533316 OR6P1 G>A	1	158533316	158533316	G	A	OR6P1	c.79C>T	NM_001160325.2	NP_001153797.1:p.(Leu27Phe)	NC_000001.10:g.158533316G>A	VUS	1 lab	dfa5543e71
9:101983831 ALG2 G>C	9	101983831	101983831	G	C	ALG2	c.346C>G	NM_033087.4	NP_149078.1:p.(Gln116Glu)	NC_000009.11:g.101983831G>C	(Likely) benign	1 lab	dfa5dbfef0
17:59533936 TBX4 G>A	17	59533936	59533936	G	A	TBX4	c.85G>A	NM_001321120.2	NP_001308049.1:p.(Ala29Thr)	NC_000017.10:g.59533936G>A	(Likely) benign	1 lab	dfa5e06451
11:64453204 NRXN2 C>T	11	64453204	64453204	C	T	NRXN2	c.1066G>A	NM_015080.4	NP_055895.1:p.(Ala356Thr)	NC_000011.9:g.64453204C>T	VUS	1 lab	dfa76f0ef7
12:122277958 HPD G>A	12	122277958	122277958	G	A	HPD	c.955-4C>T	NM_002150.3	NP_002141.2:p.?	NC_000012.11:g.122277958G>A	(Likely) benign	1 lab	dfa7bea16f
X:11779637 MSL3 A>G	X	11779637	11779637	A	G	MSL3	c.401A>G	NM_078629.4	NP_523353.2:p.(Asp134Gly)	NC_000023.10:g.11779637A>G	VUS	1 lab	dfa82a151c
14:20869727 TEP1 C>T	14	20869727	20869727	C	T	TEP1	c.1280G>A	NM_007110.5	NP_009041.2:p.(Gly427Asp)	NC_000014.8:g.20869727C>T	(Likely) benign	1 lab	dfa9fb4b35
12:22063248 ABCC9 T>A	12	22063248	22063248	T	A	ABCC9	c.1165-2A>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063248T>A	(Likely) benign	1 lab	dfaa710dd9
1:11205057 MTOR T>C	1	11205057	11205057	T	C	MTOR	c.4732A>G	NM_004958.4	NP_004949.1:p.(Met1578Val)	NC_000001.10:g.11205057T>C	VUS	1 lab	dfada71250
3:134085250 AMOTL2 C>T	3	134085250	134085250	C	T	AMOTL2	c.1061G>A	NM_016201.4	NP_057285.3:p.(Arg354Gln)	NC_000003.11:g.134085250C>T	VUS	1 lab	dfade9e0e4
12:88514053 CEP290 C>A	12	88514053	88514053	C	A	CEP290	c.1360G>T	NM_025114.4	NP_079390.3:p.(Gly454Ter)	NC_000012.11:g.88514053C>A	(Likely) pathogenic	1 lab	dfae1aa647
21:47831685 PCNT C>T	21	47831685	47831685	C	T	PCNT	c.5698C>T	NM_006031.6	NP_006022.3:p.(Arg1900Cys)	NC_000021.8:g.47831685C>T	(Likely) benign	1 lab	dfaf8fd2c0
19:11132512 SMARCA4 A>G	19	11132512	11132512	A	G	SMARCA4	c.2728A>G	NM_003072.5	NP_003063.2:p.(Thr910Ala)	NC_000019.9:g.11132512A>G	(Likely) pathogenic	1 lab	dfafadc6c6
19:16943002 SIN3B CT>C	19	16943002	16943025	CT	C	SIN3B	c.381+567del	NM_001297595.2	NP_001284524.1:p.?	NC_000019.9:g.16943025del	(Likely) benign	1 lab	dfb07b4f67
17:78186026 SGSH C>T	17	78186026	78186026	C	T	SGSH	c.793G>A	NM_000199.5	NP_000190.1:p.(Asp265Asn)	NC_000017.10:g.78186026C>T	VUS	1 lab	dfb300adbd
6:51913285 PKHD1 T>C	6	51913285	51913285	T	C	PKHD1	c.2407+5A>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51913285T>C	(Likely) benign	1 lab	dfb3b21357
6:88227988 RARS2 CAA>C	6	88227988	88227992	CAA	C	RARS2	c.1416-8_1416-7del	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88227991_88227992del	(Likely) benign	1 lab	dfb3d4e6bf
14:20872015 TEP1 A>G	14	20872015	20872015	A	G	TEP1	c.1061T>C	NM_007110.5	NP_009041.2:p.(Leu354Pro)	NC_000014.8:g.20872015A>G	(Likely) benign	1 lab	dfb6be6536
4:114274768 ANK2 A>T	4	114274768	114274768	A	T	ANK2	c.4994A>T	NM_001148.6	NP_001139.3:p.(Lys1665Ile)	NC_000004.11:g.114274768A>T	(Likely) benign	1 lab	dfb6e52fd7
4:81952629 BMP3 A>G	4	81952629	81952629	A	G	BMP3	c.191A>G	NM_001201.5	NP_001192.4:p.(Tyr64Cys)	NC_000004.11:g.81952629A>G	VUS	1 lab	dfb7bc4380
12:51092844 DIP2B G>A	12	51092844	51092844	G	A	DIP2B	c.2189-5G>A	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51092844G>A	(Likely) benign	1 lab	dfb81fc747
2:15378808 NBAS C>G	2	15378808	15378808	C	G	NBAS	c.5727G>C	NM_015909.4	NP_056993.2:p.(Leu1909=)	NC_000002.11:g.15378808C>G	(Likely) benign	1 lab	dfb9d78aa1
6:155451191 TIAM2 T>G	6	155451191	155451191	T	G	TIAM2	c.834T>G	NM_012454.4	NP_036586.3:p.(His278Gln)	NC_000006.11:g.155451191T>G	VUS	1 lab	dfbb37d897
13:32911947 BRCA2 TA>T	13	32911947	32911950	TA	T	BRCA2	c.3458del	NM_000059.4	NP_000050.3:p.(Lys1153ArgfsTer15)	NC_000013.10:g.32911950del	(Likely) pathogenic	1 lab	dfbc995f75
16:3794912 CREBBP T>C	16	3794912	3794912	T	C	CREBBP	c.3965A>G	NM_004380.3	NP_004371.2:p.(Asn1322Ser)	NC_000016.9:g.3794912T>C	VUS	1 lab	dfbd2b69f0
11:66483344 SPTBN2 C>A	11	66483344	66483344	C	A	SPTBN2	c.266G>T	NM_006946.4	NP_008877.2:p.(Arg89Leu)	NC_000011.9:g.66483344C>A	VUS	1 lab	dfbd3c33fb
17:49053261 SPAG9 G>A	17	49053261	49053261	G	A	SPAG9	c.3524-953C>T	NM_001130528.3	NP_001124000.1:p.?	NC_000017.10:g.49053261G>A	VUS	1 lab	dfbfe9d70d
1:201196322 IGFN1 C>A	1	201196322	201196322	C	A	IGFN1	c.11099C>A	NM_001164586.2	NP_001158058.1:p.(Thr3700Asn)	NC_000001.10:g.201196322C>A	(Likely) benign	1 lab	dfc02fd233
14:105614514 JAG2 G>T	14	105614514	105614514	G	T	JAG2	c.2187C>A	NM_002226.5	NP_002217.3:p.(Asp729Glu)	NC_000014.8:g.105614514G>T	VUS	1 lab	dffbf2dfda
X:70349288 MED12 G>A	X	70349288	70349288	G	A	MED12	c.3691+9G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70349288G>A	(Likely) benign	1 lab	dfc3adfe16
4:54327211 LNX1 T>TAA	4	54327211	54327222	T	TAA	LNX1	c.2052-4_2052-3dup	NM_001126328.3	NP_001119800.1:p.?	NC_000004.11:g.54327221_54327222dup	(Likely) benign	1 lab	dfc3e5b3e7
19:18971795 UPF1 C>T	19	18971795	18971795	C	T	UPF1	c.2457+4C>T	NM_002911.4	NP_002902.2:p.?	NC_000019.9:g.18971795C>T	(Likely) benign	1 lab	dfc4e18374
12:49433890 KMT2D C>T	12	49433890	49433890	C	T	KMT2D	c.7663G>A	NM_003482.4	NP_003473.3:p.(Gly2555Ser)	NC_000012.11:g.49433890C>T	(Likely) benign	1 lab	dfc5ebd427
9:101984040 ALG2 C>A	9	101984040	101984040	C	A	ALG2	c.137G>T	NM_033087.4	NP_149078.1:p.(Ser46Ile)	NC_000009.11:g.101984040C>A	(Likely) benign	1 lab	dfc7ee20d6
16:71604625 TAT C>G	16	71604625	71604625	C	G	TAT	c.869G>C	NM_000353.3	NP_000344.1:p.(Gly290Ala)	NC_000016.9:g.71604625C>G	VUS	1 lab	dfc96033b5
4:1801060 FGFR3 G>A	4	1801060	1801060	G	A	FGFR3	c.189G>A	NM_000142.5	NP_000133.1:p.(Pro63=)	NC_000004.11:g.1801060G>A	(Likely) benign	1 lab	dfc9d10ae4
17:56329603 LPO G>A	17	56329603	56329603	G	A	LPO	c.841G>A	NM_006151.3	NP_006142.1:p.(Gly281Arg)	NC_000017.10:g.56329603G>A	VUS	1 lab	dfca046c91
7:42007460 GLI3 T>C	7	42007460	42007460	T	C	GLI3	c.2165A>G	NM_000168.6	NP_000159.3:p.(Asn722Ser)	NC_000007.13:g.42007460T>C	(Likely) benign	1 lab	dfcaf4b59b
12:116457161 MED13L G>T	12	116457161	116457161	G	T	MED13L	c.877C>A	NM_015335.5	NP_056150.1:p.(Pro293Thr)	NC_000012.11:g.116457161G>T	VUS	1 lab	dfcb2171fb
19:16860632 NWD1 G>A	19	16860632	16860632	G	A	NWD1	c.1179G>A	NM_001007525.5	NP_001007526.3:p.(Val393=)	NC_000019.9:g.16860632G>A	VUS	1 lab	dfce53f511
4:3526676 LRPAP1 C>A	4	3526676	3526676	C	A	LRPAP1	c.307G>T	NM_002337.4	NP_002328.1:p.(Glu103Ter)	NC_000004.11:g.3526676C>A	VUS	1 lab	dfcea3efaa
5:1216751 SLC6A19 C>T	5	1216751	1216751	C	T	SLC6A19	c.966C>T	NM_001003841.3	NP_001003841.1:p.(Tyr322=)	NC_000005.9:g.1216751C>T	(Likely) benign	1 lab	2ee8e731fc
5:154287201 GEMIN5 C>T	5	154287201	154287201	C	T	GEMIN5	c.2345G>A	NM_015465.5	NP_056280.2:p.(Gly782Glu)	NC_000005.9:g.154287201C>T	(Likely) benign	1 lab	dfcf546ea1
1:11561938 DISP3 ACG>A	1	11561938	11561940	ACG	A	DISP3	c.890_891del	NM_020780.2	NP_065831.1:p.(Thr297AsnfsTer3)	NC_000001.10:g.11561939_11561940del	VUS	1 lab	dfd0736b77
20:4893576 SLC23A2 C>CG	20	4893576	4893577	C	CG	SLC23A2	c.156_157insC	NM_005116.6	NP_005107.4:p.(Asp53ArgfsTer3)	NC_000020.10:g.4893576_4893577insG	(Likely) benign	1 lab	dfd2a23ba7
8:77776331 ZFHX4 G>A	8	77776331	77776331	G	A	ZFHX4	c.10381G>A	NM_024721.5	NP_078997.4:p.(Ala3461Thr)	NC_000008.10:g.77776331G>A	VUS	1 lab	dfd4bdf5d0
10:3214943 PITRM1 G>C	10	3214943	3214943	G	C	PITRM1	c.22C>G	NM_014889.4	NP_055704.2:p.(Gln8Glu)	NC_000010.10:g.3214943G>C	(Likely) benign	1 lab	dfd52ec2dc
4:6302507 WFS1 T>A	4	6302507	6302507	T	A	WFS1	c.985T>A	NM_006005.3	NP_005996.2:p.(Phe329Ile)	NC_000004.11:g.6302507T>A	VUS	1 lab	dfd583d233
15:73017003 BBS4 G>A	15	73017003	73017003	G	A	BBS4	c.587+7G>A	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73017003G>A	(Likely) benign	1 lab	dfd5a73513
X:17746313 NHS A>G	X	17746313	17746313	A	G	NHS	c.4087A>G	NM_001291867.2	NP_001278796.1:p.(Ile1363Val)	NC_000023.10:g.17746313A>G	VUS	1 lab	dfd6ddd5d7
12:103306579 PAH C>G	12	103306579	103306579	C	G	PAH	c.158G>C	NM_000277.3	NP_000268.1:p.(Arg53Pro)	NC_000012.11:g.103306579C>G	(Likely) pathogenic	1 lab	dfd6fbb690
1:12919682 PRAMEF2 C>T	1	12919682	12919682	C	T	PRAMEF2	c.422C>T	NM_023014.1	NP_075390.1:p.(Thr141Met)	NC_000001.10:g.12919682C>T	(Likely) benign	1 lab	dfd87cfcef
20:62297358 RTEL1 A>T	20	62297358	62297358	A	T	RTEL1	c.540A>T	NM_001283009.2	NP_001269938.1:p.(Glu180Asp)	NC_000020.10:g.62297358A>T	(Likely) benign	1 lab	dfd898e4fa
X:134991872 SAGE1 A>G	X	134991872	134991872	A	G	SAGE1	c.1657A>G	NM_001381902.1	NP_001368831.1:p.(Thr553Ala)	NC_000023.10:g.134991872A>G	(Likely) benign	1 lab	dfd89aee03
2:179453267 TTN A>G	2	179453267	179453267	A	G	TTN	c.63185T>C	NM_001267550.2	NP_001254479.2:p.(Ile21062Thr)	NC_000002.11:g.179453267A>G	VUS	1 lab	dfd9650ca7
5:176684356 NSD1 T>C	5	176684356	176684356	T	C	NSD1	c.4966+204T>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176684356T>C	(Likely) benign	1 lab	dfda85d003
X:153539583 TKTL1 A>ACCC	X	153539583	153539587	A	ACCC	TKTL1	c.666_668dup	NM_012253.4	NP_036385.3:p.(Pro223dup)	NC_000023.10:g.153539585_153539587dup	VUS	1 lab	dfdc794132
11:1464854 BRSK2 C>T	11	1464854	1464854	C	T	BRSK2	c.769C>T	NM_001256627.2	NP_001243556.1:p.(Arg257Cys)	NC_000011.9:g.1464854C>T	VUS	1 lab	dfde5a5549
3:72866431 SHQ1 TATCA>T	3	72866431	72866440	TATCA	T	SHQ1	c.828_831del	NM_018130.3	NP_060600.2:p.(Asp277SerfsTer27)	NC_000003.11:g.72866437_72866440del	(Likely) pathogenic	1 lab	dfe19aa523
X:129264088 AIFM1 T>C	X	129264088	129264088	T	C	AIFM1	c.1627A>G	NM_004208.4	NP_004199.1:p.(Ile543Val)	NC_000023.10:g.129264088T>C	VUS	1 lab	dfe1c9c622
2:179509326 TTN C>A	2	179509326	179509326	C	A	TTN	c.40426G>T	NM_001267550.2	NP_001254479.2:p.(Val13476Phe)	NC_000002.11:g.179509326C>A	VUS	1 lab	dfe24098a8
6:28251678 PGBD1 T>C	6	28251678	28251678	T	C	PGBD1	c.88T>C	NM_032507.4	NP_115896.1:p.(Cys30Arg)	NC_000006.11:g.28251678T>C	(Likely) benign	1 lab	dfe30c9d35
1:202569481 SYT2 G>T	1	202569481	202569481	G	T	SYT2	c.919+4C>A	NM_177402.5	NP_796376.2:p.?	NC_000001.10:g.202569481G>T	(Likely) benign	1 lab	dfe361cc81
4:167020574 TLL1 G>A	4	167020574	167020574	G	A	TLL1	c.2802G>A	NM_012464.5	NP_036596.3:p.(Gln934=)	NC_000004.11:g.167020574G>A	(Likely) benign	1 lab	dfe393845a
10:29822358 SVIL T>C	10	29822358	29822358	T	C	SVIL	c.938A>G	NM_021738.3	NP_068506.2:p.(Glu313Gly)	NC_000010.10:g.29822358T>C	(Likely) benign	1 lab	dfe4aab89e
16:30749861 SRCAP G>A	16	30749861	30749861	G	A	SRCAP	c.8500G>A	NM_006662.3	NP_006653.2:p.(Gly2834Arg)	NC_000016.9:g.30749861G>A	(Likely) benign	1 lab	dfe5aaad3e
X:22151661 PHEX G>A	X	22151661	22151661	G	A	PHEX	c.1324G>A	NM_000444.6	NP_000435.3:p.(Val442Ile)	NC_000023.10:g.22151661G>A	(Likely) benign	1 lab	dfe60bff52
X:85156086 CHM T>TACC	X	85156086	85156089	T	TACC	CHM	c.1349_1349+2dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85156087_85156089dup	VUS	1 lab	dfe7676b4c
X:123805589 TENM1 A>G	X	123805589	123805589	A	G	TENM1	c.1112T>C	NM_001163278.2	NP_001156750.1:p.(Met371Thr)	NC_000023.10:g.123805589A>G	(Likely) benign	1 lab	dfe8538e66
15:99669767 SYNM C>T	15	99669767	99669767	C	T	SYNM	c.1202C>T	NM_145728.3	NP_663780.2:p.(Ser401Leu)	NC_000015.9:g.99669767C>T	(Likely) benign	1 lab	dfe87ab14d
16:23646296 PALB2 G>C	16	23646296	23646296	G	C	PALB2	c.1571C>G	NM_024675.4	NP_078951.2:p.(Ser524Ter)	NC_000016.9:g.23646296G>C	(Likely) pathogenic	1 lab	dfe9078c8b
16:70551631 COG4 C>A	16	70551631	70551631	C	A	COG4	c.267G>T	NM_015386.3	NP_056201.2:p.(Gln89His)	NC_000016.9:g.70551631C>A	(Likely) benign	1 lab	dfe9552312
14:64540729 SYNE2 G>A	14	64540729	64540729	G	A	SYNE2	c.10741G>A	NM_182914.3	NP_878918.2:p.(Glu3581Lys)	NC_000014.8:g.64540729G>A	VUS	1 lab	dfea4c5d73
1:43396813 SLC2A1 G>A	1	43396813	43396813	G	A	SLC2A1	c.179C>T	NM_006516.4	NP_006507.2:p.(Thr60Met)	NC_000001.10:g.43396813G>A	VUS	1 lab	e0065a244c
1:228284833 ARF1 CAA>C	1	228284833	228284835	CAA	C	ARF1	c.19_20del	NM_001658.4	NP_001649.1:p.(Asn7ProfsTer31)	NC_000001.10:g.228284834_228284835del	VUS	1 lab	dfeae2048e
11:88070903 CTSC G>GT	11	88070903	88070904	G	GT	CTSC	c.-64dup	NM_001814.6	NP_001805.4:p.?	NC_000011.9:g.88070904dup	VUS	1 lab	dfeb063516
5:60628745 ZSWIM6 A>G	5	60628745	60628745	A	G	ZSWIM6	c.646A>G	NM_020928.2	NP_065979.1:p.(Ser216Gly)	NC_000005.9:g.60628745A>G	VUS	1 lab	dfed07aec4
X:114424651 RBMXL3 T>G	X	114424651	114424651	T	G	RBMXL3	c.647T>G	NM_001145346.2	NP_001138818.1:p.(Ile216Ser)	NC_000023.10:g.114424651T>G	(Likely) benign	1 lab	dfed8251b4
22:32014141 SFI1 G>C	22	32014141	32014141	G	C	SFI1	c.3553G>C	NM_001007467.3	NP_001007468.1:p.(Glu1185Gln)	NC_000022.10:g.32014141G>C	(Likely) benign	1 lab	dfef0d5c08
11:85342855 TMEM126B A>AT	11	85342855	85342856	A	AT	TMEM126B	c.203+3_203+4insT	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85342855_85342856insT	VUS	1 lab	dfef3ba26f
2:96873914 STARD7 C>A	2	96873914	96873914	C	A	STARD7	c.259G>T	NM_020151.4	NP_064536.2:p.(Glu87Ter)	NC_000002.11:g.96873914C>A	VUS	1 lab	dff19dc236
9:131940007 IER5L G>A	9	131940007	131940007	G	A	IER5L	c.325C>T	NM_203434.3	NP_982258.2:p.(His109Tyr)	NC_000009.11:g.131940007G>A	VUS	1 lab	dff1b538c9
1:240370998 FMN2 A>AGGAATACCTCCTCCACCCCCTCTACCCGGAGCG	1	240370998	240371001	A	AGGAATACCTCCTCCACCCCCTCTACCCGGAGCG	FMN2	c.2888_2889insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG	NM_020066.5	NP_064450.3:p.(Pro955_Pro965dup)	NC_000001.10:g.240371000_240371001insAATACCTCCTCCACCCCCTCTACCCGGAGCGGG	(Likely) benign	1 lab	dff384e8df
16:2810502 SRRM2 TATGTTCCTGAGTTGGTG>T	16	2810502	2810525	TATGTTCCTGAGTTGGTG	T	SRRM2	c.1032+9_1032+25del	NM_016333.4	NP_057417.3:p.?	NC_000016.9:g.2810509_2810525del	(Likely) benign	1 lab	dff468e690
4:147431202 SLC10A7 C>T	4	147431202	147431202	C	T	SLC10A7	c.184-1G>A	NM_001029998.6	NP_001025169.1:p.?	NC_000004.11:g.147431202C>T	VUS	1 lab	dff6fc1052
20:44578900 ZNF335 T>C	20	44578900	44578900	T	C	ZNF335	c.3445A>G	NM_022095.4	NP_071378.1:p.(Ile1149Val)	NC_000020.10:g.44578900T>C	VUS	1 lab	dff8bd5b0e
4:186064717 SLC25A4 C>T	4	186064717	186064717	C	T	SLC25A4	c.111+80C>T	NM_001151.4	NP_001142.2:p.?	NC_000004.11:g.186064717C>T	(Likely) benign	1 lab	dffa6030b6
19:34929662 UBA2 A>G	19	34929662	34929662	A	G	UBA2	c.572A>G	NM_005499.3	NP_005490.1:p.(Tyr191Cys)	NC_000019.9:g.34929662A>G	VUS	1 lab	2c9b622423
16:2150287 PKD1 G>A	16	2150287	2150287	G	A	PKD1	c.9592C>T	NM_001009944.3	NP_001009944.3:p.(Gln3198Ter)	NC_000016.9:g.2150287G>A	(Likely) pathogenic	1 lab	dffdc7114d
14:76524980 IFT43 T>C	14	76524980	76524980	T	C	IFT43	c.216-5T>C	NM_001255995.2	NP_001242924.1:p.?	NC_000014.8:g.76524980T>C	(Likely) benign	1 lab	373c05e27c
3:173322467 NLGN1 G>A	3	173322467	173322467	G	A	NLGN1	c.79G>A	NM_001365925.2	NP_001352854.1:p.(Ala27Thr)	NC_000003.11:g.173322467G>A	(Likely) benign	1 lab	e00150ec1b
1:184672093 EDEM3 C>A	1	184672093	184672093	C	A	EDEM3	c.2241G>T	NM_025191.4	NP_079467.3:p.(Leu747=)	NC_000001.10:g.184672093C>A	VUS	1 lab	e0016e1056
17:29685498 NF1 G>T	17	29685498	29685498	G	T	NF1	c.7971G>T	NM_001042492.3	NP_001035957.1:p.(Val2657=)	NC_000017.10:g.29685498G>T	(Likely) benign	1 lab	e002e1c20e
4:2632899 FAM193A AAG>A	4	2632899	2632906	AAG	A	FAM193A	c.1038+9_1038+10del	NM_001366318.2	NP_001353247.1:p.?	NC_000004.11:g.2632905_2632906del	VUS	1 lab	e003b81818
17:43319409 FMNL1 C>T	17	43319409	43319409	C	T	FMNL1	c.1781C>T	NM_005892.4	NP_005883.3:p.(Pro594Leu)	NC_000017.10:g.43319409C>T	VUS	1 lab	e003ebed47
1:94140470 BCAR3 A>T	1	94140470	94140470	A	T	BCAR3	c.17T>A	NM_003567.4	NP_003558.1:p.(Phe6Tyr)	NC_000001.10:g.94140470A>T	(Likely) benign	1 lab	e0047571bf
18:32621605 MAPRE2 G>A	18	32621605	32621605	G	A	MAPRE2	c.102G>A	NM_014268.4	NP_055083.1:p.(Val34=)	NC_000018.9:g.32621605G>A	(Likely) benign	1 lab	e006841062
18:43462450 EPG5 G>T	18	43462450	43462450	G	T	EPG5	c.5307C>A	NM_020964.3	NP_066015.2:p.(Phe1769Leu)	NC_000018.9:g.43462450G>T	VUS	1 lab	e006c3745a
4:123128695 BLTP1 G>T	4	123128695	123128695	G	T	BLTP1	c.1655-1G>T	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123128695G>T	(Likely) benign	1 lab	e009b5c111
19:31769994 TSHZ3 C>G	19	31769994	31769994	C	G	TSHZ3	c.705G>C	NM_020856.4	NP_065907.2:p.(Glu235Asp)	NC_000019.9:g.31769994C>G	VUS	1 lab	e00bab11a5
2:148701099 ORC4 G>A	2	148701099	148701099	G	A	ORC4	c.763-8C>T	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701099G>A	(Likely) benign	1 lab	e00e94adae
2:74604581 DCTN1 G>A	2	74604581	74604581	G	A	DCTN1	c.371C>T	NM_004082.5	NP_004073.2:p.(Thr124Ile)	NC_000002.11:g.74604581G>A	(Likely) benign	1 lab	e00f7c47d5
10:27328997 ANKRD26 C>G	10	27328997	27328997	C	G	ANKRD26	c.2272G>C	NM_014915.3	NP_055730.2:p.(Asp758His)	NC_000010.10:g.27328997C>G	(Likely) benign	1 lab	e010386bb2
17:7490231 MPDU1 G>C	17	7490231	7490231	G	C	MPDU1	c.403G>C	NM_004870.4	NP_004861.2:p.(Ala135Pro)	NC_000017.10:g.7490231G>C	(Likely) benign	1 lab	e0112630b1
13:20717346 GJA3 C>T	13	20717346	20717346	C	T	GJA3	c.82G>A	NM_021954.4	NP_068773.2:p.(Val28Met)	NC_000013.10:g.20717346C>T	(Likely) pathogenic	1 lab	e012dff7a2
1:186276876 PRG4 C>CACCCCTAAGGAGCCTGCTCCAACT	1	186276876	186276960	C	CACCCCTAAGGAGCCTGCTCCAACT	PRG4	c.2086_2109dup	NM_005807.6	NP_005798.3:p.(Pro696_Glu703dup)	NC_000001.10:g.186276937_186276960dup	VUS	1 lab	e0140b182c
1:897730 KLHL17 C>T	1	897730	897730	C	T	KLHL17	c.712-5C>T	NM_198317.3	NP_938073.1:p.?	NC_000001.10:g.897730C>T	(Likely) benign	1 lab	e014d57371
21:47831985 PCNT G>A	21	47831985	47831985	G	A	PCNT	c.5994+4G>A	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47831985G>A	(Likely) benign	1 lab	e015a68b28
17:18226218 SMCR8 G>A	17	18226218	18226218	G	A	SMCR8	c.2648G>A	NM_144775.3	NP_658988.2:p.(Arg883His)	NC_000017.10:g.18226218G>A	VUS	1 lab	e01660d3ff
11:2181237 INS C>T	11	2181237	2181237	C	T	INS	c.188-10G>A	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2181237C>T	(Likely) benign	1 lab	e0814efda9
5:66462143 MAST4 A>G	5	66462143	66462143	A	G	MAST4	c.7136A>G	NM_001164664.2	NP_001158136.1:p.(Tyr2379Cys)	NC_000005.9:g.66462143A>G	VUS	1 lab	e0169b2fbe
X:106843829 FRMPD3 C>G	X	106843829	106843829	C	G	FRMPD3	c.2560C>G	NM_001388459.1	NP_001375388.1:p.(Pro854Ala)	NC_000023.10:g.106843829C>G	(Likely) benign	1 lab	e016bb12c8
8:28929214 KIF13B G>A	8	28929214	28929214	G	A	KIF13B	c.5141C>T	NM_015254.4	NP_056069.2:p.(Thr1714Met)	NC_000008.10:g.28929214G>A	(Likely) benign	1 lab	e0177b6f17
18:20516929 RBBP8 A>G	18	20516929	20516929	A	G	RBBP8	c.109+6A>G	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20516929A>G	(Likely) benign	1 lab	e017939717
9:34658655 IL11RA C>T	9	34658655	34658655	C	T	IL11RA	c.785C>T	NM_001142784.3	NP_001136256.1:p.(Pro262Leu)	NC_000009.11:g.34658655C>T	VUS	1 lab	e0181853b8
3:138091747 MRAS A>G	3	138091747	138091747	A	G	MRAS	c.22A>G	NM_001085049.3	NP_001078518.1:p.(Ser8Gly)	NC_000003.11:g.138091747A>G	(Likely) benign	1 lab	e018432dec
6:33135605 COL11A2 C>T	6	33135605	33135605	C	T	COL11A2	c.3985G>A	NM_080680.3	NP_542411.2:p.(Glu1329Lys)	NC_000006.11:g.33135605C>T	VUS	1 lab	e0184e8d80
6:167709705 UNC93A G>A	6	167709705	167709705	G	A	UNC93A	c.455G>A	NM_018974.4	NP_061847.2:p.(Gly152Asp)	NC_000006.11:g.167709705G>A	(Likely) benign	1 lab	e01978a888
3:183894855 AP2M1 G>C	3	183894855	183894855	G	C	AP2M1	c.74G>C	NM_004068.4	NP_004059.2:p.(Gly25Ala)	NC_000003.11:g.183894855G>C	(Likely) benign	1 lab	e01a392c71
6:32333936 TSBP1 A>G	6	32333936	32333936	A	G	TSBP1	c.217+8T>C	NM_001286474.2	NP_001273403.1:p.?	NC_000006.11:g.32333936A>G	(Likely) benign	1 lab	e01b114d12
2:26536335 ADGRF3 C>T	2	26536335	26536335	C	T	ADGRF3	c.1179G>A	NM_001321971.2	NP_001308900.1:p.(Val393=)	NC_000002.11:g.26536335C>T	VUS	1 lab	e01b2d983c
2:179569673 TTN CCTCT>C	2	179569673	179569679	CCTCT	C	TTN	c.29621_29624del	NM_001267550.2	NP_001254479.2:p.(Glu9874GlyfsTer28)	NC_000002.11:g.179569676_179569679del	VUS	1 lab	2ca142c748
1:155408663 ASH1L T>G	1	155408663	155408663	T	G	ASH1L	c.5283A>C	NM_018489.3	NP_060959.2:p.(Lys1761Asn)	NC_000001.10:g.155408663T>G	(Likely) benign	1 lab	e020d6ad55
15:71535328 THSD4 C>G	15	71535328	71535328	C	G	THSD4	c.805C>G	NM_024817.3	NP_079093.2:p.(His269Asp)	NC_000015.9:g.71535328C>G	(Likely) benign	1 lab	e0218596fc
9:73151937 TRPM3 C>A	9	73151937	73151937	C	A	TRPM3	c.4092G>T	NM_001366145.2	NP_001353074.1:p.(Lys1364Asn)	NC_000009.11:g.73151937C>A	VUS	1 lab	e022f17d58
20:4680443 PRNP A>G	20	4680443	4680443	A	G	PRNP	c.577A>G	NM_000311.5	NP_000302.1:p.(Thr193Ala)	NC_000020.10:g.4680443A>G	VUS	1 lab	e024d3acc0
2:179452842 TTN C>G	2	179452842	179452842	C	G	TTN	c.63292G>C	NM_001267550.2	NP_001254479.2:p.(Gly21098Arg)	NC_000002.11:g.179452842C>G	VUS	1 lab	e0257507a9
16:30389168 MYL11 T>C	16	30389168	30389168	T	C	MYL11	c.457T>C	NM_013292.5	NP_037424.2:p.(Tyr153His)	NC_000016.9:g.30389168T>C	VUS	1 lab	e0273b0232
14:51219348 NIN C>T	14	51219348	51219348	C	T	NIN	c.4838G>A	NM_020921.4	NP_065972.4:p.(Arg1613His)	NC_000014.8:g.51219348C>T	(Likely) benign	1 lab	e028a6a948
7:124503669 POT1 T>C	7	124503669	124503669	T	C	POT1	c.281A>G	NM_015450.3	NP_056265.2:p.(Gln94Arg)	NC_000007.13:g.124503669T>C	VUS	1 lab	e0291c6961
1:45292964 PTCH2 C>T	1	45292964	45292964	C	T	PTCH2	c.2389G>A	NM_003738.5	NP_003729.3:p.(Asp797Asn)	NC_000001.10:g.45292964C>T	VUS	1 lab	e02ae56430
8:11994716 USP17L2 C>A	8	11994716	11994716	C	A	USP17L2	c.1554G>T	NM_201402.3	NP_958804.2:p.(Lys518Asn)	NC_000008.10:g.11994716C>A	(Likely) benign	1 lab	e02d92adf7
12:15035081 MGP T>C	12	15035081	15035081	T	C	MGP	c.379A>G	NM_001190839.3	NP_001177768.1:p.(Thr127Ala)	NC_000012.11:g.15035081T>C	(Likely) benign	1 lab	2caa62b904
3:58116839 FLNB C>T	3	58116839	58116839	C	T	FLNB	c.4390+204C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58116839C>T	(Likely) benign	1 lab	e02e9d4a18
6:31948509 WHR1 C>T	6	31948509	31948509	C	T	WHR1	c.650C>T	NM_004197.2	NP_004188.2:p.(Ala217Val)	NC_000006.11:g.31948509C>T	(Likely) benign	1 lab	e02f0ce25f
16:88788814 PIEZO1 G>A	16	88788814	88788814	G	A	PIEZO1	c.4776-9C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88788814G>A	(Likely) benign	1 lab	e02fd0636f
22:18897771 DGCR6 C>T	22	18897771	18897771	C	T	DGCR6	c.358C>T	NM_005675.6	NP_005666.2:p.(Gln120Ter)	NC_000022.10:g.18897771C>T	VUS	1 lab	e030fa6bce
4:1808899 FGFR3 C>T	4	1808899	1808899	C	T	FGFR3	c.2331C>T	NM_000142.5	NP_000133.1:p.(Thr777=)	NC_000004.11:g.1808899C>T	(Likely) benign	1 lab	e0310ba945
19:7584565 ZNF358 G>C	19	7584565	7584565	G	C	ZNF358	c.437G>C	NM_018083.5	NP_060553.4:p.(Ser146Thr)	NC_000019.9:g.7584565G>C	(Likely) benign	1 lab	e03203c1bc
19:38979934 RYR1 GAGGAGGAGA>G	19	38979934	38979951	GAGGAGGAGA	G	RYR1	c.5674_5682del	NM_000540.3	NP_000531.2:p.(Lys1892_Glu1894del)	NC_000019.9:g.38979943_38979951del	VUS	1 lab	e0331a8a05
17:60654062 TLK2 T>G	17	60654062	60654062	T	G	TLK2	c.1122-8T>G	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60654062T>G	VUS	1 lab	2ef668a664
11:68125291 LRP5 G>A	11	68125291	68125291	G	A	LRP5	c.662G>A	NM_002335.4	NP_002326.2:p.(Arg221His)	NC_000011.9:g.68125291G>A	VUS	1 lab	e0360b7ef4
X:148794798 MAGEA11 TTCAGCCTTGGGAA>T	X	148794798	148794813	TTCAGCCTTGGGAA	T	MAGEA11	c.-17-2_-7del	NM_005366.5	NP_005357.2:p.?	NC_000023.10:g.148794801_148794813del	VUS	1 lab	e0361b55bd
15:44903168 SPG11 A>G	15	44903168	44903168	A	G	SPG11	c.3161T>C	NM_025137.4	NP_079413.3:p.(Phe1054Ser)	NC_000015.9:g.44903168A>G	VUS	1 lab	e0393dbf55
20:10620411 JAG1 G>A	20	10620411	10620411	G	A	JAG1	c.3392C>T	NM_000214.3	NP_000205.1:p.(Ala1131Val)	NC_000020.10:g.10620411G>A	VUS	1 lab	e03a3b5efb
3:126211344 UROC1 C>T	3	126211344	126211344	C	T	UROC1	c.1525G>A	NM_144639.3	NP_653240.1:p.(Ala509Thr)	NC_000003.11:g.126211344C>T	VUS	1 lab	e03ab2d6a9
X:10181837 CLCN4 G>T	X	10181837	10181837	G	T	CLCN4	c.1693G>T	NM_001830.4	NP_001821.2:p.(Ala565Ser)	NC_000023.10:g.10181837G>T	VUS	1 lab	e03c37bf03
7:100284371 GIGYF1 G>A	7	100284371	100284371	G	A	GIGYF1	c.595C>T	NM_001375765.1	NP_001362694.1:p.(Arg199Cys)	NC_000007.13:g.100284371G>A	VUS	1 lab	e03d5d615d
15:33922231 RYR3 A>G	15	33922231	33922231	A	G	RYR3	c.2770A>G	NM_001036.6	NP_001027.3:p.(Thr924Ala)	NC_000015.9:g.33922231A>G	VUS	1 lab	e03e928623
8:68184088 ARFGEF1 T>C	8	68184088	68184088	T	C	ARFGEF1	c.1421A>G	NM_006421.5	NP_006412.2:p.(Asn474Ser)	NC_000008.10:g.68184088T>C	VUS	1 lab	e03f210fa8
11:46331570 CREB3L1 A>T	11	46331570	46331570	A	T	CREB3L1	c.547A>T	NM_052854.4	NP_443086.1:p.(Ile183Phe)	NC_000011.9:g.46331570A>T	VUS	1 lab	e0410b1c2e
1:8421090 RERE AGCGGGGGAT>A	1	8421090	8421100	AGCGGGGGAT	A	RERE	c.2468_2476del	NM_001042681.2	NP_001036146.1:p.(His823_Pro825del)	NC_000001.10:g.8421092_8421100del	(Likely) benign	1 lab	e0411c375a
15:74473287 STRA6 G>A	15	74473287	74473287	G	A	STRA6	c.1685-9C>T	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74473287G>A	VUS	1 lab	e06b44e6f0
12:109680347 ACACB C>T	12	109680347	109680347	C	T	ACACB	c.5128C>T	NM_001093.4	NP_001084.3:p.(Gln1710Ter)	NC_000012.11:g.109680347C>T	VUS	1 lab	e0435127d4
2:227892692 COL4A4 T>C	2	227892692	227892692	T	C	COL4A4	c.4007A>G	NM_000092.5	NP_000083.3:p.(His1336Arg)	NC_000002.11:g.227892692T>C	(Likely) benign	1 lab	e0457e730e
1:114133099 MAGI3 A>G	1	114133099	114133099	A	G	MAGI3	c.764-7A>G	NM_001142782.2	NP_001136254.1:p.?	NC_000001.10:g.114133099A>G	(Likely) benign	1 lab	e0467c6f8c
19:16987019 SIN3B G>T	19	16987019	16987019	G	T	SIN3B	c.2746G>T	NM_001297595.2	NP_001284524.1:p.(Ala916Ser)	NC_000019.9:g.16987019G>T	(Likely) benign	1 lab	e0476eca43
1:152275910 FLG G>A	1	152275910	152275910	G	A	FLG	c.11452C>T	NM_002016.2	NP_002007.1:p.(Gln3818Ter)	NC_000001.10:g.152275910G>A	(Likely) pathogenic	1 lab	e0495726a5
2:152473975 NEB T>A	2	152473975	152473975	T	A	NEB	c.11084A>T	NM_001164508.2	NP_001157980.2:p.(Tyr3695Phe)	NC_000002.11:g.152473975T>A	(Likely) benign	1 lab	e04a8d1fab
8:61736524 CHD7 G>A	8	61736524	61736524	G	A	CHD7	c.3327G>A	NM_017780.4	NP_060250.2:p.(Arg1109=)	NC_000008.10:g.61736524G>A	(Likely) benign	1 lab	e04a9b4348
2:220348005 SPEG G>GC	2	220348005	220348008	G	GC	SPEG	c.5823dup	NM_005876.5	NP_005867.3:p.(Glu1942ArgfsTer15)	NC_000002.11:g.220348008dup	(Likely) pathogenic	1 lab	e04b5ad8a8
17:78064015 CCDC40 G>GGGACGCGCGCAGGCACGTGCACGAAC	17	78064015	78064016	G	GGGACGCGCGCAGGCACGTGCACGAAC	CCDC40	c.2832+332_2832+333insGGACGCGCGCAGGCACGTGCACGAAC	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064015_78064016insGGACGCGCGCAGGCACGTGCACGAAC	(Likely) benign	1 lab	e04bdd9a27
16:30750975 SRCAP AGCGCATCCT>A	16	30750975	30750989	AGCGCATCCT	A	SRCAP	c.9620_9628del	NM_006662.3	NP_006653.2:p.(Ile3207_Arg3209del)	NC_000016.9:g.30750981_30750989del	VUS	1 lab	e04c286bfe
18:19751562 GATA6 G>T	18	19751562	19751562	G	T	GATA6	c.457G>T	NM_005257.6	NP_005248.2:p.(Ala153Ser)	NC_000018.9:g.19751562G>T	VUS	1 lab	e051b4f271
17:78184298 SGSH C>T	17	78184298	78184298	C	T	SGSH	c.1462G>A	NM_000199.5	NP_000190.1:p.(Glu488Lys)	NC_000017.10:g.78184298C>T	VUS	1 lab	e054a74afe
19:42343004 LYPD4 C>T	19	42343004	42343004	C	T	LYPD4	c.162G>A	NM_173506.7	NP_775777.3:p.(Val54=)	NC_000019.9:g.42343004C>T	(Likely) benign	1 lab	e054fc32b4
13:111118335 COL4A2 A>T	13	111118335	111118335	A	T	COL4A2	c.1979-15A>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111118335A>T	(Likely) benign	1 lab	e0574ea7f3
11:68682340 IGHMBP2 G>A	11	68682340	68682340	G	A	IGHMBP2	c.761G>A	NM_002180.3	NP_002171.2:p.(Arg254His)	NC_000011.9:g.68682340G>A	VUS	1 lab	e05855bcca
19:1754256 ONECUT3 C>A	19	1754256	1754256	C	A	ONECUT3	c.595C>A	NM_001080488.2	NP_001073957.1:p.(Leu199Met)	NC_000019.9:g.1754256C>A	(Likely) benign	1 lab	e058d1d06c
10:72326428 PALD1 G>A	10	72326428	72326428	G	A	PALD1	c.2510G>A	NM_014431.3	NP_055246.2:p.(Arg837His)	NC_000010.10:g.72326428G>A	VUS	1 lab	e0594feb9e
21:46572585 ADARB1 G>C	21	46572585	46572585	G	C	ADARB1	c.-47-18940G>C	NM_001112.4	NP_001103.1:p.?	NC_000021.8:g.46572585G>C	(Likely) benign	1 lab	e05a70f452
6:90395608 MDN1 C>T	6	90395608	90395608	C	T	MDN1	c.11657G>A	NM_014611.3	NP_055426.1:p.(Arg3886Gln)	NC_000006.11:g.90395608C>T	VUS	1 lab	e05cc05fcd
13:25484214 CPAP T>G	13	25484214	25484214	T	G	CPAP	c.579A>C	NM_018451.5	NP_060921.3:p.(Leu193Phe)	NC_000013.10:g.25484214T>G	VUS	1 lab	e05d2351ce
11:73850002 C2CD3 G>C	11	73850002	73850002	G	C	C2CD3	c.718C>G	NM_001286577.2	NP_001273506.1:p.(His240Asp)	NC_000011.9:g.73850002G>C	(Likely) benign	1 lab	e05e233278
2:179500029 TTN G>A	2	179500029	179500029	G	A	TTN	c.41887C>T	NM_001267550.2	NP_001254479.2:p.(Arg13963Cys)	NC_000002.11:g.179500029G>A	VUS	1 lab	e05ee1989d
X:53114932 TSPYL2 C>T	X	53114932	53114932	C	T	TSPYL2	c.1358C>T	NM_022117.4	NP_071400.1:p.(Ser453Phe)	NC_000023.10:g.53114932C>T	(Likely) benign	1 lab	e05fcef4c5
6:47471189 CD2AP A>G	6	47471189	47471189	A	G	CD2AP	c.165+13A>G	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47471189A>G	(Likely) benign	1 lab	2ef9fc24c8
18:2925272 LPIN2 C>T	18	2925272	2925272	C	T	LPIN2	c.1888G>A	NM_001375808.2	NP_001362737.1:p.(Gly630Ser)	NC_000018.9:g.2925272C>T	(Likely) benign	1 lab	e0636b3594
3:47887680 DHX30 C>G	3	47887680	47887680	C	G	DHX30	c.1118C>G	NM_138615.3	NP_619520.1:p.(Ala373Gly)	NC_000003.11:g.47887680C>G	VUS	1 lab	e06383f70c
5:112174691 APC G>A	5	112174691	112174691	G	A	APC	c.3400G>A	NM_000038.6	NP_000029.2:p.(Asp1134Asn)	NC_000005.9:g.112174691G>A	VUS	1 lab	e0663d588e
7:143048955 CLCN1 A>T	7	143048955	143048955	A	T	CLCN1	c.2864A>T	NM_000083.3	NP_000074.3:p.(Glu955Val)	NC_000007.13:g.143048955A>T	(Likely) benign	1 lab	2efb079e9e
12:110246188 TRPV4 C>T	12	110246188	110246188	C	T	TRPV4	c.472G>A	NM_021625.5	NP_067638.3:p.(Val158Met)	NC_000012.11:g.110246188C>T	VUS	1 lab	e069c6f127
13:32953520 BRCA2 C>G	13	32953520	32953520	C	G	BRCA2	c.8821C>G	NM_000059.4	NP_000050.3:p.(Gln2941Glu)	NC_000013.10:g.32953520C>G	VUS	1 lab	e06c0f948f
7:117182156 CFTR G>A	7	117182156	117182156	G	A	CFTR	c.1203G>A	NM_000492.4	NP_000483.3:p.(Trp401Ter)	NC_000007.13:g.117182156G>A	(Likely) pathogenic	1 lab	2cace6b63e
3:122003667 CASR T>G	3	122003667	122003667	T	G	CASR	c.2866T>G	NM_000388.4	NP_000379.3:p.(Ser956Ala)	NC_000003.11:g.122003667T>G	(Likely) benign	1 lab	e06f726152
6:100960590 ASCC3 G>A	6	100960590	100960590	G	A	ASCC3	c.6280C>T	NM_006828.4	NP_006819.2:p.(His2094Tyr)	NC_000006.11:g.100960590G>A	(Likely) benign	1 lab	e0708f2739
18:7017272 LAMA1 C>A	18	7017272	7017272	C	A	LAMA1	c.2808+5G>T	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7017272C>A	(Likely) pathogenic	1 lab	e070f48f31
7:44187366 GCK C>G	7	44187366	44187366	C	G	GCK	c.746G>C	NM_000162.5	NP_000153.1:p.(Gly249Ala)	NC_000007.13:g.44187366C>G	(Likely) pathogenic	1 lab	e070fc5b73
9:134385803 POMT1 G>T	9	134385803	134385803	G	T	POMT1	c.855+1G>T	NM_001077365.2	NP_001070833.1:p.?	NC_000009.11:g.134385803G>T	VUS	1 lab	e072d8d9ae
5:168727530 SLIT3 T>A	5	168727530	168727530	T	A	SLIT3	c.184A>T	NM_003062.4	NP_003053.2:p.(Asn62Tyr)	NC_000005.9:g.168727530T>A	VUS	1 lab	e074554400
5:149751665 TCOF1 G>A	5	149751665	149751665	G	A	TCOF1	c.736G>A	NM_001371623.1	NP_001358552.1:p.(Gly246Arg)	NC_000005.9:g.149751665G>A	VUS	1 lab	e0758d8dee
13:111277612 NAXD G>A	13	111277612	111277612	G	A	NAXD	c.319G>A	NM_001242882.2	NP_001229811.1:p.(Val107Ile)	NC_000013.10:g.111277612G>A	VUS	1 lab	e0762bfad8
19:40392538 FCGBP ACTT>A	19	40392538	40392546	ACTT	A	FCGBP	c.7963_7965del	NM_003890.3	NP_003881.2:p.(Lys2655del)	NC_000019.9:g.40392544_40392546del	VUS	1 lab	e076fc5bc0
1:110607283 ALX3 T>C	1	110607283	110607283	T	C	ALX3	c.520A>G	NM_006492.3	NP_006483.2:p.(Lys174Glu)	NC_000001.10:g.110607283T>C	VUS	1 lab	e077004caa
15:89390570 ACAN C>T	15	89390570	89390570	C	T	ACAN	c.1526C>T	NM_001369268.1	NP_001356197.1:p.(Ser509Leu)	NC_000015.9:g.89390570C>T	VUS	1 lab	e07720379f
9:140130680 SLC34A3 C>T	9	140130680	140130680	C	T	SLC34A3	c.1612C>T	NM_001177316.2	NP_001170787.2:p.(Arg538Trp)	NC_000009.11:g.140130680C>T	(Likely) benign	1 lab	e0781668cb
1:225305708 DNAH14 T>C	1	225305708	225305708	T	C	DNAH14	c.4091+7T>C	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225305708T>C	(Likely) benign	1 lab	e0781d1005
1:1226311 SCNN1D C>T	1	1226311	1226311	C	T	SCNN1D	c.1954C>T	NM_001130413.4	NP_001123885.2:p.(Pro652Ser)	NC_000001.10:g.1226311C>T	(Likely) benign	1 lab	e07869d5d7
11:17434925 ABCC8 A>T	11	17434925	17434925	A	T	ABCC8	c.2475+16T>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17434925A>T	(Likely) benign	1 lab	e078ded3fb
6:170592538 DLL1 G>A	6	170592538	170592538	G	A	DLL1	c.1829C>T	NM_005618.4	NP_005609.3:p.(Thr610Met)	NC_000006.11:g.170592538G>A	(Likely) benign	1 lab	e07c9c8f95
6:108372390 OSTM1 T>C	6	108372390	108372390	T	C	OSTM1	c.628A>G	NM_014028.4	NP_054747.2:p.(Ser210Gly)	NC_000006.11:g.108372390T>C	(Likely) benign	1 lab	e07d04c0a6
11:118307385 KMT2A C>T	11	118307385	118307385	C	T	KMT2A	c.158C>T	NM_001197104.2	NP_001184033.1:p.(Ala53Val)	NC_000011.9:g.118307385C>T	(Likely) benign	1 lab	e07d37741b
11:36300107 COMMD9 G>A	11	36300107	36300107	G	A	COMMD9	c.237C>T	NM_014186.4	NP_054905.2:p.(Ala79=)	NC_000011.9:g.36300107G>A	(Likely) benign	1 lab	e07e526771
4:187525129 FAT1 C>T	4	187525129	187525129	C	T	FAT1	c.10551G>A	NM_005245.4	NP_005236.2:p.(Val3517=)	NC_000004.11:g.187525129C>T	(Likely) benign	1 lab	e07e67f710
15:57524636 TCF12 A>G	15	57524636	57524636	A	G	TCF12	c.825+8A>G	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57524636A>G	(Likely) benign	1 lab	e07e80bacb
12:133084939 FBRSL1 G>GTGCTCCCCAGAAGGGGGGCCGCTCCCAGCCAGCCACTGGGACCAGAACGGCCCGGCCCAGCGCC	12	133084939	133084940	G	GTGCTCCCCAGAAGGGGGGCCGCTCCCAGCCAGCCACTGGGACCAGAACGGCCCGGCCCAGCGCC	FBRSL1	c.489+3_489+4insTGCTCCCCAGAAGGGGGGCCGCTCCCAGCCAGCCACTGGGACCAGAACGGCCCGGCCCAGCGCC	NM_001367871.1	NP_001354800.1:p.?	NC_000012.11:g.133084939_133084940insTGCTCCCCAGAAGGGGGGCCGCTCCCAGCCAGCCACTGGGACCAGAACGGCCCGGCCCAGCGCC	VUS	1 lab	e07ec637ba
2:242139537 ANO7 G>A	2	242139537	242139537	G	A	ANO7	c.451G>A	NM_001370694.2	NP_001357623.1:p.(Gly151Ser)	NC_000002.11:g.242139537G>A	(Likely) benign	1 lab	e08125f550
3:15475982 EAF1 C>T	3	15475982	15475982	C	T	EAF1	c.463C>T	NM_033083.7	NP_149074.3:p.(Pro155Ser)	NC_000003.11:g.15475982C>T	VUS	1 lab	e081f76f59
1:155313979 ASH1L C>T	1	155313979	155313979	C	T	ASH1L	c.7976G>A	NM_018489.3	NP_060959.2:p.(Arg2659His)	NC_000001.10:g.155313979C>T	(Likely) benign	1 lab	e08225793d
7:100279988 GIGYF1 G>A	7	100279988	100279988	G	A	GIGYF1	c.2718C>T	NM_001375765.1	NP_001362694.1:p.(Cys906=)	NC_000007.13:g.100279988G>A	(Likely) benign	1 lab	e084939cec
12:110032882 MVK A>G	12	110032882	110032882	A	G	MVK	c.935A>G	NM_000431.2	NP_000422.1:p.(His312Arg)	NC_000012.11:g.110032882A>G	VUS	1 lab	2efbf36a81
21:46131378 TSPEAR G>GGCCGGGGGCC	21	46131378	46131391	G	GGCCGGGGGCC	TSPEAR	c.42_51dup	NM_144991.3	NP_659428.2:p.(His18GlyfsTer28)	NC_000021.8:g.46131382_46131391dup	(Likely) pathogenic	1 lab	2cb1915431
1:203316870 FMOD A>G	1	203316870	203316870	A	G	FMOD	c.529T>C	NM_002023.5	NP_002014.2:p.(Ser177Pro)	NC_000001.10:g.203316870A>G	VUS	1 lab	e0869a652c
15:68500665 CLN6 C>T	15	68500665	68500665	C	T	CLN6	c.749G>A	NM_017882.3	NP_060352.1:p.(Arg250His)	NC_000015.9:g.68500665C>T	VUS	1 lab	e088c39817
3:55508427 WNT5A T>C	3	55508427	55508427	T	C	WNT5A	c.622A>G	NM_003392.7	NP_003383.4:p.(Lys208Glu)	NC_000003.11:g.55508427T>C	VUS	1 lab	e0987c1198
17:38975127 KRT10 C>CGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCA	17	38975127	38975147	C	CGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCA	KRT10	c.1659_1660insTGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCC	NM_000421.5	NP_000412.4:p.(Ser553_Gly554insCysGlyGlyTyrGlyGlyGlySerSerSerGlyGlyGlyTyrGlyGlyGlySerSerSer)	NC_000017.10:g.38975146_38975147insTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCAGGAGCTGCTGCCGCCGCCG	VUS	1 lab	e089cd94d5
15:72196360 MYO9A A>T	15	72196360	72196360	A	T	MYO9A	c.2787T>A	NM_006901.4	NP_008832.2:p.(Asp929Glu)	NC_000015.9:g.72196360A>T	VUS	1 lab	e08b0e29cf
5:169697715 LCP2 G>A	5	169697715	169697715	G	A	LCP2	c.523+8C>T	NM_005565.5	NP_005556.1:p.?	NC_000005.9:g.169697715G>A	(Likely) benign	1 lab	2eff2b6669
10:64973490 JMJD1C G>A	10	64973490	64973490	G	A	JMJD1C	c.2437C>T	NM_032776.3	NP_116165.1:p.(Pro813Ser)	NC_000010.10:g.64973490G>A	VUS	1 lab	e08d03d532
X:114541124 LUZP4 C>T	X	114541124	114541124	C	T	LUZP4	c.697C>T	NM_016383.5	NP_057467.1:p.(Arg233Cys)	NC_000023.10:g.114541124C>T	(Likely) benign	1 lab	e090908937
2:46603892 EPAS1 G>C	2	46603892	46603892	G	C	EPAS1	c.1249G>C	NM_001430.5	NP_001421.2:p.(Gly417Arg)	NC_000002.11:g.46603892G>C	VUS	1 lab	e091fe9556
X:153128291 L1CAM G>A	X	153128291	153128291	G	A	L1CAM	c.3601C>T	NM_001278116.2	NP_001265045.1:p.(Pro1201Ser)	NC_000023.10:g.153128291G>A	(Likely) benign	1 lab	e093e11116
20:42252683 IFT52 C>T	20	42252683	42252683	C	T	IFT52	c.921C>T	NM_016004.5	NP_057088.2:p.(Ile307=)	NC_000020.10:g.42252683C>T	(Likely) benign	1 lab	e09432126a
6:117240430 RFX6 C>T	6	117240430	117240430	C	T	RFX6	c.1153C>T	NM_173560.4	NP_775831.2:p.(Arg385Ter)	NC_000006.11:g.117240430C>T	(Likely) pathogenic	1 lab	e0957d23a6
14:36986598 NKX2-1 G>T	14	36986598	36986598	G	T	NKX2-1	c.1091C>A	NM_001079668.3	NP_001073136.1:p.(Ala364Asp)	NC_000014.8:g.36986598G>T	VUS	1 lab	e096200434
14:65268539 SPTB T>A	14	65268539	65268539	T	A	SPTB	c.580A>T	NM_001355436.2	NP_001342365.1:p.(Asn194Tyr)	NC_000014.8:g.65268539T>A	VUS	1 lab	e09684f29a
2:233744276 NGEF G>A	2	233744276	233744276	G	A	NGEF	c.2056C>T	NM_019850.3	NP_062824.2:p.(Arg686Cys)	NC_000002.11:g.233744276G>A	VUS	1 lab	e0976eb7c0
1:27023505 ARID1A A>G	1	27023505	27023505	A	G	ARID1A	c.611A>G	NM_006015.6	NP_006006.3:p.(Asp204Gly)	NC_000001.10:g.27023505A>G	VUS	1 lab	e09a6aa76a
1:161771950 ATF6 C>T	1	161771950	161771950	C	T	ATF6	c.797C>T	NM_007348.4	NP_031374.2:p.(Pro266Leu)	NC_000001.10:g.161771950C>T	(Likely) benign	1 lab	e09a74b0e5
15:25620679 UBE3A T>A	15	25620679	25620679	T	A	UBE3A	c.294A>T	NM_130839.5	NP_570854.1:p.(Lys98Asn)	NC_000015.9:g.25620679T>A	(Likely) benign	1 lab	e09ac57524
17:7605066 WRAP53 C>T	17	7605066	7605066	C	T	WRAP53	c.914C>T	NM_001143992.2	NP_001137464.1:p.(Thr305Met)	NC_000017.10:g.7605066C>T	VUS	1 lab	e09b47b69d
8:120116065 COLEC10 C>T	8	120116065	120116065	C	T	COLEC10	c.373C>T	NM_006438.5	NP_006429.2:p.(Arg125Trp)	NC_000008.10:g.120116065C>T	VUS	1 lab	e09bf81df4
9:2029113 SMARCA2 C>T	9	2029113	2029113	C	T	SMARCA2	c.91C>T	NM_003070.5	NP_003061.3:p.(Pro31Ser)	NC_000009.11:g.2029113C>T	VUS	1 lab	e0abee5046
10:95276949 CEP55 A>AAC	10	95276949	95276950	A	AAC	CEP55	c.937_938insAC	NM_018131.5	NP_060601.4:p.(Ile313AsnfsTer29)	NC_000010.10:g.95276949_95276950insAC	VUS	1 lab	e09d3d2f72
10:120801896 EIF3A G>A	10	120801896	120801896	G	A	EIF3A	c.3136C>T	NM_003750.4	NP_003741.1:p.(Arg1046Trp)	NC_000010.10:g.120801896G>A	(Likely) benign	1 lab	e09debe458
19:15298018 NOTCH3 C>T	19	15298018	15298018	C	T	NOTCH3	c.1738G>A	NM_000435.3	NP_000426.2:p.(Glu580Lys)	NC_000019.9:g.15298018C>T	VUS	1 lab	e09f3312bb
17:17740083 SREBF1 C>A	17	17740083	17740083	C	A	SREBF1	c.49G>T	NM_004176.5	NP_004167.3:p.(Glu17Ter)	NC_000017.10:g.17740083C>A	VUS	1 lab	e0a018c748
2:186669251 FSIP2 T>C	2	186669251	186669251	T	C	FSIP2	c.15218T>C	NM_173651.4	NP_775922.3:p.(Leu5073Ser)	NC_000002.11:g.186669251T>C	VUS	1 lab	e0a0312e8a
2:152350311 NEB C>T	2	152350311	152350311	C	T	NEB	c.24650G>A	NM_001164508.2	NP_001157980.2:p.(Arg8217His)	NC_000002.11:g.152350311C>T	VUS	1 lab	e0a1810334
19:38998386 RYR1 A>C	19	38998386	38998386	A	C	RYR1	c.8851A>C	NM_000540.3	NP_000531.2:p.(Ile2951Leu)	NC_000019.9:g.38998386A>C	(Likely) benign	1 lab	e0a1bc4d81
11:77820504 ALG8 G>A	11	77820504	77820504	G	A	ALG8	c.1022C>T	NM_024079.5	NP_076984.2:p.(Thr341Ile)	NC_000011.9:g.77820504G>A	VUS	1 lab	2cba974554
14:21623123 OR5AU1 C>G	14	21623123	21623123	C	G	OR5AU1	c.909G>C	NM_001004731.3	NP_001004731.2:p.(Lys303Asn)	NC_000014.8:g.21623123C>G	(Likely) benign	1 lab	e0a4aaa5f0
16:3642837 SLX4 C>G	16	3642837	3642837	C	G	SLX4	c.2190G>C	NM_032444.4	NP_115820.2:p.(Glu730Asp)	NC_000016.9:g.3642837C>G	(Likely) benign	1 lab	e0a59ddc5e
20:57415297 GNAS-AS1 G>C	20	57415297	57415297	G	C	GNAS-AS1	n.672+1695C>G	NR_185847.1		NC_000020.10:g.57415297G>C	(Likely) benign	1 lab	e0a71c4ed7
9:80537143 GNAQ C>T	9	80537143	80537143	C	T	GNAQ	c.255G>A	NM_002072.5	NP_002063.2:p.(Thr85=)	NC_000009.11:g.80537143C>T	(Likely) benign	1 lab	2effe8d28f
3:121980687 CASR G>T	3	121980687	121980687	G	T	CASR	c.805G>T	NM_000388.4	NP_000379.3:p.(Val269Phe)	NC_000003.11:g.121980687G>T	VUS	1 lab	e0ad771c30
15:89824388 FANCI TTC>T	15	89824388	89824391	TTC	T	FANCI	c.1382-11_1382-10del	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89824390_89824391del	(Likely) benign	1 lab	e0aebb2b81
21:19687546 TMPRSS15 C>T	21	19687546	19687546	C	T	TMPRSS15	c.1949G>A	NM_002772.3	NP_002763.3:p.(Cys650Tyr)	NC_000021.8:g.19687546C>T	VUS	1 lab	e0af7b009c
1:230415112 GALNT2 A>G	1	230415112	230415112	A	G	GALNT2	c.1624A>G	NM_004481.5	NP_004472.1:p.(Ser542Gly)	NC_000001.10:g.230415112A>G	VUS	1 lab	e0afb05daa
4:77661176 SHROOM3 A>G	4	77661176	77661176	A	G	SHROOM3	c.1850A>G	NM_020859.4	NP_065910.3:p.(Lys617Arg)	NC_000004.11:g.77661176A>G	(Likely) benign	1 lab	e0b0442138
9:73152062 TRPM3 G>T	9	73152062	73152062	G	T	TRPM3	c.3967C>A	NM_001366145.2	NP_001353074.1:p.(Leu1323Ile)	NC_000009.11:g.73152062G>T	(Likely) benign	1 lab	e0b0cfdbc8
11:46917812 LRP4 C>T	11	46917812	46917812	C	T	LRP4	c.997G>A	NM_002334.4	NP_002325.2:p.(Gly333Arg)	NC_000011.9:g.46917812C>T	(Likely) benign	1 lab	e0b4d3947d
2:55882074 PNPT1 C>A	2	55882074	55882074	C	A	PNPT1	c.1456G>T	NM_033109.5	NP_149100.2:p.(Ala486Ser)	NC_000002.11:g.55882074C>A	VUS	1 lab	e0b589111a
7:158679717 DYNC2I1 C>T	7	158679717	158679717	C	T	DYNC2I1	c.941C>T	NM_018051.5	NP_060521.4:p.(Ala314Val)	NC_000007.13:g.158679717C>T	(Likely) benign	1 lab	e0b5a2cec9
4:103808580 CISD2 A>T	4	103808580	103808580	A	T	CISD2	c.401A>T	NM_001008388.5	NP_001008389.1:p.(Glu134Val)	NC_000004.11:g.103808580A>T	VUS	1 lab	e0b5e3d71e
17:41246475 BRCA1 AG>A	17	41246475	41246476	AG	A	BRCA1	c.1072del	NM_007294.4	NP_009225.1:p.(Leu358CysfsTer16)	NC_000017.10:g.41246476del	(Likely) pathogenic	1 lab	2cc0982351
9:33917208 UBE2R2 T>A	9	33917208	33917208	T	A	UBE2R2	c.690T>A	NM_017811.4	NP_060281.2:p.(Asp230Glu)	NC_000009.11:g.33917208T>A	(Likely) benign	1 lab	e0b923b0b6
X:11318722 AMELX T>C	X	11318722	11318722	T	C	AMELX	c.613-5T>C	NM_182680.1	NP_872621.1:p.?	NC_000023.10:g.11318722T>C	(Likely) benign	1 lab	2f02c5224b
6:152779917 SYNE1 C>G	6	152779917	152779917	C	G	SYNE1	c.2543G>C	NM_182961.4	NP_892006.3:p.(Ser848Thr)	NC_000006.11:g.152779917C>G	(Likely) benign	1 lab	e0b9f96b1d
5:149449828 CSF1R G>A	5	149449828	149449828	G	A	CSF1R	c.1236C>T	NM_001288705.3	NP_001275634.1:p.(Asn412=)	NC_000005.9:g.149449828G>A	(Likely) benign	1 lab	e0ba05565b
2:179412289 TTN G>A	2	179412289	179412289	G	A	TTN	c.94064C>T	NM_001267550.2	NP_001254479.2:p.(Ala31355Val)	NC_000002.11:g.179412289G>A	VUS	1 lab	e0ba6dcc64
14:69349196 ACTN1 G>A	14	69349196	69349196	G	A	ACTN1	c.1932C>T	NM_001130004.1	NP_001123476.1:p.(Pro644=)	NC_000014.8:g.69349196G>A	(Likely) benign	1 lab	2f04696d9c
15:99500419 IGF1R G>C	15	99500419	99500419	G	C	IGF1R	c.3852G>C	NM_000875.5	NP_000866.1:p.(Glu1284Asp)	NC_000015.9:g.99500419G>C	(Likely) benign	1 lab	e0bc4ca960
1:11298067 MTOR C>G	1	11298067	11298067	C	G	MTOR	c.2041G>C	NM_004958.4	NP_004949.1:p.(Glu681Gln)	NC_000001.10:g.11298067C>G	VUS	1 lab	e0bd13b7ef
15:65684223 IGDCC4 G>T	15	65684223	65684223	G	T	IGDCC4	c.2219C>A	NM_020962.3	NP_066013.1:p.(Ala740Glu)	NC_000015.9:g.65684223G>T	VUS	1 lab	e0bd562f90
17:42990807 GFAP G>C	17	42990807	42990807	G	C	GFAP	c.619-9C>G	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42990807G>C	(Likely) benign	1 lab	e0bd750206
12:30809648 IPO8 T>C	12	30809648	30809648	T	C	IPO8	c.1918A>G	NM_006390.4	NP_006381.2:p.(Ile640Val)	NC_000012.11:g.30809648T>C	(Likely) benign	1 lab	e0bddb5139
20:18492930 SEC23B T>C	20	18492930	18492930	T	C	SEC23B	c.279+4T>C	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18492930T>C	(Likely) benign	1 lab	e0be0ea998
3:182733255 MCCC1 C>T	3	182733255	182733255	C	T	MCCC1	c.2149G>A	NM_020166.5	NP_064551.3:p.(Glu717Lys)	NC_000003.11:g.182733255C>T	(Likely) benign	1 lab	e0cc1cddce
X:68890056 EDA C>T	X	68890056	68890056	C	T	EDA	c.396+53508C>T	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.68890056C>T	VUS	1 lab	e0bf84e77e
16:88776402 CTU2 G>A	16	88776402	88776402	G	A	CTU2	c.200G>A	NM_001012759.3	NP_001012777.1:p.(Arg67Gln)	NC_000016.9:g.88776402G>A	(Likely) benign	1 lab	e0bf925a9d
1:11272455 MTOR T>C	1	11272455	11272455	T	C	MTOR	c.3475A>G	NM_004958.4	NP_004949.1:p.(Ile1159Val)	NC_000001.10:g.11272455T>C	(Likely) benign	1 lab	e0bff4b9d4
3:101090924 SENP7 T>A	3	101090924	101090924	T	A	SENP7	c.724A>T	NM_020654.5	NP_065705.3:p.(Thr242Ser)	NC_000003.11:g.101090924T>A	(Likely) benign	1 lab	e0c09a0bfa
1:151006691 PRUNE1 C>T	1	151006691	151006691	C	T	PRUNE1	c.1343C>T	NM_021222.3	NP_067045.1:p.(Ala448Val)	NC_000001.10:g.151006691C>T	(Likely) benign	1 lab	e0c0eb6437
7:152079794 KMT2C G>T	7	152079794	152079794	G	T	KMT2C	c.162-24034C>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152079794G>T	(Likely) benign	1 lab	e0c1066435
11:63990505 FERMT3 C>G	11	63990505	63990505	C	G	FERMT3	c.1683-15C>G	NM_178443.3	NP_848537.1:p.?	NC_000011.9:g.63990505C>G	(Likely) benign	1 lab	2cc195b351
16:4847948 ROGDI C>G	16	4847948	4847948	C	G	ROGDI	c.686G>C	NM_024589.3	NP_078865.1:p.(Gly229Ala)	NC_000016.9:g.4847948C>G	VUS	1 lab	e0c5b022e8
16:71264557 HYDIN C>T	16	71264557	71264557	C	T	HYDIN	c.-116G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71264557C>T	(Likely) benign	1 lab	e0c9240fe4
13:78477370 EDNRB T>G	13	78477370	78477370	T	G	EDNRB	c.722A>C	NM_001122659.3	NP_001116131.1:p.(Asp241Ala)	NC_000013.10:g.78477370T>G	VUS	1 lab	e0c9483e18
18:2763801 SMCHD1 A>G	18	2763801	2763801	A	G	SMCHD1	c.4719+14A>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2763801A>G	(Likely) benign	1 lab	e147d3820b
6:117198603 RFX6 C>T	6	117198603	117198603	C	T	RFX6	c.165C>T	NM_173560.4	NP_775831.2:p.(Gly55=)	NC_000006.11:g.117198603C>T	(Likely) benign	1 lab	e0ca43e847
17:11666911 DNAH9 G>A	17	11666911	11666911	G	A	DNAH9	c.7150G>A	NM_001372.4	NP_001363.2:p.(Gly2384Arg)	NC_000017.10:g.11666911G>A	VUS	1 lab	e0cbc8504a
19:41129995 LTBP4 C>T	19	41129995	41129995	C	T	LTBP4	c.3832+8C>T	NM_001042545.2	NP_001036010.1:p.?	NC_000019.9:g.41129995C>T	(Likely) benign	1 lab	e0cbfd1458
1:6592706 NOL9 T>C	1	6592706	6592706	T	C	NOL9	c.1352A>G	NM_024654.5	NP_078930.4:p.(Asp451Gly)	NC_000001.10:g.6592706T>C	VUS	1 lab	e1f9105ccd
2:85059186 TRABD2A TGGGTCGTCCAGCAGG>T	2	85059186	85059203	TGGGTCGTCCAGCAGG	T	TRABD2A	c.1060_1074del	NM_001277053.2	NP_001263982.1:p.(Pro354_Pro358del)	NC_000002.11:g.85059189_85059203del	VUS	1 lab	e0ccf4f93c
2:8890307 KIDINS220 A>T	2	8890307	8890307	A	T	KIDINS220	c.3349T>A	NM_020738.4	NP_065789.1:p.(Ser1117Thr)	NC_000002.11:g.8890307A>T	VUS	1 lab	e0cf522902
12:110252419 TRPV4 G>A	12	110252419	110252419	G	A	TRPV4	c.183C>T	NM_021625.5	NP_067638.3:p.(Gly61=)	NC_000012.11:g.110252419G>A	(Likely) benign	1 lab	e0d0479109
9:17022 WASHC1 CA>C	9	17022	17023	CA	C	WASHC1	c.825del	NM_001378090.1	NP_001365019.1:p.(Gly276AlafsTer13)	NC_000009.11:g.17023del	(Likely) benign	1 lab	e0d1bf4407
7:44191997 GCK A>G	7	44191997	44191997	A	G	GCK	c.236T>C	NM_000162.5	NP_000153.1:p.(Leu79Pro)	NC_000007.13:g.44191997A>G	VUS	1 lab	e0d1ea5d9b
7:48046892 SUN3 C>T	7	48046892	48046892	C	T	SUN3	c.362G>A	NM_001030019.2	NP_001025190.1:p.(Arg121His)	NC_000007.13:g.48046892C>T	VUS	1 lab	e0d1f00bb5
20:60897433 LAMA5 C>T	20	60897433	60897433	C	T	LAMA5	c.6238G>A	NM_005560.6	NP_005551.3:p.(Glu2080Lys)	NC_000020.10:g.60897433C>T	VUS	1 lab	e0d8f80449
19:45731339 EXOC3L2 G>C	19	45731339	45731339	G	C	EXOC3L2	c.1372-7C>G	NM_001382422.1	NP_001369351.1:p.?	NC_000019.9:g.45731339G>C	(Likely) benign	1 lab	e0da2c8de9
17:62025392 SCN4A C>T	17	62025392	62025392	C	T	SCN4A	c.3176G>A	NM_000334.4	NP_000325.4:p.(Arg1059Gln)	NC_000017.10:g.62025392C>T	(Likely) benign	1 lab	e0db0f458d
X:153296112 MECP2 AGGTGGGGGCAGG>A	X	153296112	153296130	AGGTGGGGGCAGG	A	MECP2	c.1191_1202del	NM_001110792.2	NP_001104262.1:p.(Leu398_Pro401del)	NC_000023.10:g.153296119_153296130del	VUS	1 lab	e0dd0532b8
14:74428482 COQ6 G>A	14	74428482	74428482	G	A	COQ6	c.1253G>A	NM_182476.3	NP_872282.1:p.(Arg418His)	NC_000014.8:g.74428482G>A	VUS	1 lab	e0df2563e5
X:107084257 MID2 G>A	X	107084257	107084257	G	A	MID2	c.362G>A	NM_012216.4	NP_036348.2:p.(Arg121His)	NC_000023.10:g.107084257G>A	VUS	1 lab	e0e24f3af7
16:2160423 PKD1 C>G	16	2160423	2160423	C	G	PKD1	c.4745G>C	NM_001009944.3	NP_001009944.3:p.(Trp1582Ser)	NC_000016.9:g.2160423C>G	VUS	1 lab	e0e350bbb5
7:142571874 TRPV6 G>A	7	142571874	142571874	G	A	TRPV6	c.1594C>T	NM_018646.6	NP_061116.5:p.(Arg532Ter)	NC_000007.13:g.142571874G>A	(Likely) pathogenic	1 lab	e0e3ab4dc0
20:44527029 CTSA C>T	20	44527029	44527029	C	T	CTSA	c.1383C>T	NM_000308.4	NP_000299.3:p.(Thr461=)	NC_000020.10:g.44527029C>T	(Likely) benign	1 lab	e0e3af448a
X:37518883 LANCL3 A>T	X	37518883	37518883	A	T	LANCL3	c.866A>T	NM_001170331.2	NP_001163802.1:p.(Glu289Val)	NC_000023.10:g.37518883A>T	VUS	1 lab	e0e4c17e67
15:63966572 HERC1 C>T	15	63966572	63966572	C	T	HERC1	c.7815G>A	NM_003922.4	NP_003913.3:p.(Leu2605=)	NC_000015.9:g.63966572C>T	(Likely) benign	1 lab	e0e6e0c6d8
17:42988778 GFAP A>G	17	42988778	42988778	A	G	GFAP	c.953T>C	NM_002055.5	NP_002046.1:p.(Val318Ala)	NC_000017.10:g.42988778A>G	(Likely) benign	1 lab	e0e7ccf810
1:224301962 FBXO28 G>A	1	224301962	224301962	G	A	FBXO28	c.131G>A	NM_015176.4	NP_055991.1:p.(Gly44Glu)	NC_000001.10:g.224301962G>A	(Likely) benign	1 lab	e0e7d94f45
14:50735882 L2HGDH G>A	14	50735882	50735882	G	A	L2HGDH	c.905C>T	NM_024884.3	NP_079160.1:p.(Pro302Leu)	NC_000014.8:g.50735882G>A	(Likely) pathogenic	1 lab	e0e7f0eb03
12:57135524 PRIM1 A>G	12	57135524	57135524	A	G	PRIM1	c.840+6T>C	NM_000946.3	NP_000937.1:p.?	NC_000012.11:g.57135524A>G	(Likely) benign	1 lab	e0e8bee4f3
6:163987810 QKI T>C	6	163987810	163987810	T	C	QKI	c.992T>C	NM_006775.3	NP_006766.1:p.(Ile331Thr)	NC_000006.11:g.163987810T>C	(Likely) benign	1 lab	e0eb4f6faa
1:10386213 KIF1B G>A	1	10386213	10386213	G	A	KIF1B	c.2720G>A	NM_001365951.3	NP_001352880.1:p.(Arg907His)	NC_000001.10:g.10386213G>A	VUS	1 lab	e0ec46c736
17:40354438 STAT5B C>T	17	40354438	40354438	C	T	STAT5B	c.2157G>A	NM_012448.4	NP_036580.2:p.(Gly719=)	NC_000017.10:g.40354438C>T	(Likely) benign	1 lab	e0ed430ed7
15:43282285 UBR1 C>T	15	43282285	43282285	C	T	UBR1	c.3791G>A	NM_174916.3	NP_777576.1:p.(Gly1264Glu)	NC_000015.9:g.43282285C>T	VUS	1 lab	e0ee2d33d4
19:3751464 APBA3 C>T	19	3751464	3751464	C	T	APBA3	c.1483G>A	NM_004886.4	NP_004877.1:p.(Glu495Lys)	NC_000019.9:g.3751464C>T	VUS	1 lab	e0ee6b4188
3:4461766 SUMF1 T>C	3	4461766	4461766	T	C	SUMF1	c.584A>G	NM_182760.4	NP_877437.2:p.(Asp195Gly)	NC_000003.11:g.4461766T>C	VUS	1 lab	e0f012b8ab
20:31388056 DNMT3B G>T	20	31388056	31388056	G	T	DNMT3B	c.1857G>T	NM_006892.4	NP_008823.1:p.(Glu619Asp)	NC_000020.10:g.31388056G>T	(Likely) benign	1 lab	e0f045d5d3
5:149637351 CAMK2A T>C	5	149637351	149637351	T	C	CAMK2A	c.218-171A>G	NM_015981.4	NP_057065.2:p.?	NC_000005.9:g.149637351T>C	VUS	1 lab	e0f513d538
12:121431481 HNF1A C>G	12	121431481	121431481	C	G	HNF1A	c.685C>G	NM_000545.8	NP_000536.6:p.(Arg229Gly)	NC_000012.11:g.121431481C>G	(Likely) pathogenic	1 lab	e0fa3d6697
11:119181618 MCAM G>A	11	119181618	119181618	G	A	MCAM	c.1646-5C>T	NM_006500.3	NP_006491.2:p.?	NC_000011.9:g.119181618G>A	VUS	1 lab	e0fc3d14a0
6:74189685 MTO1 T>A	6	74189685	74189685	T	A	MTO1	c.965T>A	NM_012123.4	NP_036255.2:p.(Val322Asp)	NC_000006.11:g.74189685T>A	VUS	1 lab	e0fd2d7132
1:200971426 KIF21B C>A	1	200971426	200971426	C	A	KIF21B	c.1265G>T	NM_017596.4	NP_060066.2:p.(Arg422Leu)	NC_000001.10:g.200971426C>A	VUS	1 lab	2cc6c7153c
8:94798480 TMEM67 C>T	8	94798480	94798480	C	T	TMEM67	c.1318C>T	NM_153704.6	NP_714915.3:p.(Arg440Trp)	NC_000008.10:g.94798480C>T	VUS	1 lab	e101343be0
19:46282590 DMPK C>T	19	46282590	46282590	C	T	DMPK	c.364G>A	NM_004409.5	NP_004400.4:p.(Val122Met)	NC_000019.9:g.46282590C>T	VUS	1 lab	e103148c28
21:45706022 AIRE G>C	21	45706022	45706022	G	C	AIRE	c.132+1G>C	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45706022G>C	VUS	1 lab	e1031d6210
X:150912215 CNGA2 G>T	X	150912215	150912215	G	T	CNGA2	c.1240G>T	NM_005140.3	NP_005131.1:p.(Asp414Tyr)	NC_000023.10:g.150912215G>T	VUS	1 lab	e107417c85
6:30885487 VARS2 C>CACACAGCTTCGACTGGCTGTG	6	30885487	30885488	C	CACACAGCTTCGACTGGCTGTG	VARS2	c.889_890insACACAGCTTCGACTGGCTGTG	NM_020442.6	NP_065175.4:p.(Leu297delinsHisThrAlaSerThrGlyCysVal)	NC_000006.11:g.30885487_30885488insACACAGCTTCGACTGGCTGTG	VUS	1 lab	e107d682ef
5:14364919 TRIO G>T	5	14364919	14364919	G	T	TRIO	c.2748G>T	NM_007118.4	NP_009049.2:p.(Val916=)	NC_000005.9:g.14364919G>T	(Likely) benign	1 lab	2f04cb24c7
5:137909767 HSPA9 G>A	5	137909767	137909767	G	A	HSPA9	c.130C>T	NM_004134.7	NP_004125.3:p.(Arg44Trp)	NC_000005.9:g.137909767G>A	(Likely) benign	1 lab	e108dc53cd
X:135291470 FHL1 A>G	X	135291470	135291470	A	G	FHL1	c.757A>G	NM_001159702.3	NP_001153174.1:p.(Lys253Glu)	NC_000023.10:g.135291470A>G	VUS	1 lab	2f07ae2b8f
10:74896575 ECD C>T	10	74896575	74896575	C	T	ECD	c.1591G>A	NM_007265.3	NP_009196.1:p.(Glu531Lys)	NC_000010.10:g.74896575C>T	(Likely) benign	1 lab	e109cf7593
16:3293258 MEFV G>C	16	3293258	3293258	G	C	MEFV	c.2229C>G	NM_000243.2	NP_000234.1:p.(Phe743Leu)	NC_000016.9:g.3293258G>C	VUS	1 lab	2f149fc085
22:40706811 TNRC6B C>T	22	40706811	40706811	C	T	TNRC6B	c.4259-10C>T	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40706811C>T	(Likely) benign	1 lab	e10b9b2024
14:75330152 PROX2 C>T	14	75330152	75330152	C	T	PROX2	c.386G>A	NM_001243007.2	NP_001229936.1:p.(Gly129Asp)	NC_000014.8:g.75330152C>T	(Likely) benign	1 lab	e10bbd7e6f
16:1816578 MAPK8IP3 G>C	16	1816578	1816578	G	C	MAPK8IP3	c.2868G>C	NM_001318852.2	NP_001305781.1:p.(Glu956Asp)	NC_000016.9:g.1816578G>C	(Likely) benign	1 lab	e10c56083d
2:179615209 TTN G>A	2	179615209	179615209	G	A	TTN	c.11311+2642C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615209G>A	(Likely) benign	1 lab	e10ffef0d3
19:42857121 MEGF8 C>T	19	42857121	42857121	C	T	MEGF8	c.3392C>T	NM_001271938.2	NP_001258867.1:p.(Pro1131Leu)	NC_000019.9:g.42857121C>T	VUS	1 lab	e110e46a8c
19:17899086 FCHO1 C>A	19	17899086	17899086	C	A	FCHO1	c.2648-7C>A	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17899086C>A	(Likely) benign	1 lab	e112b8eb73
5:122135508 SNX2 G>A	5	122135508	122135508	G	A	SNX2	c.348G>A	NM_003100.4	NP_003091.2:p.(Lys116=)	NC_000005.9:g.122135508G>A	VUS	1 lab	e1134b3476
17:42455805 ITGA2B C>G	17	42455805	42455805	C	G	ITGA2B	c.2019G>C	NM_000419.5	NP_000410.2:p.(Glu673Asp)	NC_000017.10:g.42455805C>G	VUS	1 lab	e11356553e
11:65838096 PACS1 C>A	11	65838096	65838096	C	A	PACS1	c.139C>A	NM_018026.4	NP_060496.2:p.(Pro47Thr)	NC_000011.9:g.65838096C>A	(Likely) benign	1 lab	e11730af88
1:40758214 ZMPSTE24 C>T	1	40758214	40758214	C	T	ZMPSTE24	c.1301C>T	NM_005857.5	NP_005848.2:p.(Ala434Val)	NC_000001.10:g.40758214C>T	VUS	1 lab	e1182a0492
12:121416767 HNF1A G>GA	12	121416767	121416768	G	GA	HNF1A	c.197dup	NM_000545.8	NP_000536.6:p.(Thr67AspfsTer29)	NC_000012.11:g.121416768dup	(Likely) pathogenic	1 lab	e118d91d14
11:118376895 KMT2A T>G	11	118376895	118376895	T	G	KMT2A	c.10288T>G	NM_001197104.2	NP_001184033.1:p.(Cys3430Gly)	NC_000011.9:g.118376895T>G	VUS	1 lab	e11d751015
12:111057742 TCTN1 T>C	12	111057742	111057742	T	C	TCTN1	c.322T>C	NM_001082538.3	NP_001076007.1:p.(Cys108Arg)	NC_000012.11:g.111057742T>C	VUS	1 lab	e11fa8f285
15:89402277 ACAN T>C	15	89402277	89402277	T	C	ACAN	c.6461T>C	NM_001369268.1	NP_001356197.1:p.(Leu2154Ser)	NC_000015.9:g.89402277T>C	(Likely) benign	1 lab	e120b452c6
X:41334007 NYX C>T	X	41334007	41334007	C	T	NYX	c.1301C>T	NM_001378477.1	NP_001365406.1:p.(Thr434Ile)	NC_000023.10:g.41334007C>T	VUS	1 lab	e1231d2c52
22:24582093 SUSD2 G>A	22	24582093	24582093	G	A	SUSD2	c.1449G>A	NM_019601.4	NP_062547.1:p.(Val483=)	NC_000022.10:g.24582093G>A	VUS	1 lab	e123292e61
17:36091698 HNF1B T>C	17	36091698	36091698	T	C	HNF1B	c.933A>G	NM_000458.4	NP_000449.1:p.(Gln311=)	NC_000017.10:g.36091698T>C	(Likely) benign	1 lab	e12388f5b4
2:176958346 HOXD13 A>C	2	176958346	176958346	A	C	HOXD13	c.728A>C	NM_000523.4	NP_000514.2:p.(Tyr243Ser)	NC_000002.11:g.176958346A>C	VUS	1 lab	e1239b3fed
X:110968230 ALG13 T>C	X	110968230	110968230	T	C	ALG13	c.1670T>C	NM_001099922.3	NP_001093392.1:p.(Met557Thr)	NC_000023.10:g.110968230T>C	VUS	1 lab	e123dd64d9
18:19085818 GREB1L G>A	18	19085818	19085818	G	A	GREB1L	c.4276G>A	NM_001142966.3	NP_001136438.1:p.(Val1426Ile)	NC_000018.9:g.19085818G>A	(Likely) benign	1 lab	e12461d07e
6:55925565 COL21A1 C>T	6	55925565	55925565	C	T	COL21A1	c.2381G>A	NM_030820.4	NP_110447.2:p.(Arg794Gln)	NC_000006.11:g.55925565C>T	VUS	1 lab	e126a0d762
8:144999224 PLEC C>T	8	144999224	144999224	C	T	PLEC	c.4873G>A	NM_201384.3	NP_958786.1:p.(Glu1625Lys)	NC_000008.10:g.144999224C>T	VUS	1 lab	e126d6d0d3
16:69354983 VPS4A C>T	16	69354983	69354983	C	T	VPS4A	c.881C>T	NM_013245.3	NP_037377.1:p.(Pro294Leu)	NC_000016.9:g.69354983C>T	VUS	1 lab	e12772b035
22:51160732 SHANK3 C>T	22	51160732	51160732	C	T	SHANK3	c.4696C>T	NM_001372044.2	NP_001358973.1:p.(Pro1566Ser)	NC_000022.10:g.51160732C>T	VUS	1 lab	e127c4f9aa
5:37158402 CPLANE1 T>C	5	37158402	37158402	T	C	CPLANE1	c.7736A>G	NM_001384732.1	NP_001371661.1:p.(Tyr2579Cys)	NC_000005.9:g.37158402T>C	VUS	1 lab	e128317781
17:66538952 FAM20A T>C	17	66538952	66538952	T	C	FAM20A	c.813-2A>G	NM_017565.4	NP_060035.2:p.?	NC_000017.10:g.66538952T>C	VUS	1 lab	e1289c35ad
1:235622071 B3GALNT2 G>A	1	235622071	235622071	G	A	B3GALNT2	c.865C>T	NM_152490.5	NP_689703.1:p.(Leu289Phe)	NC_000001.10:g.235622071G>A	VUS	1 lab	e12a1c7944
1:24123428 GALE G>A	1	24123428	24123428	G	A	GALE	c.647C>T	NM_001008216.2	NP_001008217.1:p.(Ala216Val)	NC_000001.10:g.24123428G>A	VUS	1 lab	e12a972006
22:29126411 CHEK2 G>A	22	29126411	29126411	G	A	CHEK2	c.319+3980C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29126411G>A	(Likely) benign	1 lab	e12b114988
1:16358326 CLCNKA G>A	1	16358326	16358326	G	A	CLCNKA	c.1744G>A	NM_004070.4	NP_004061.3:p.(Val582Met)	NC_000001.10:g.16358326G>A	VUS	1 lab	e12bd95223
22:42610572 TCF20 AAGG>A	22	42610572	42610594	AAGG	A	TCF20	c.737_739del	NM_001378418.1	NP_001365347.1:p.(Ser246del)	NC_000022.10:g.42610592_42610594del	(Likely) benign	1 lab	e12cfa5bf2
8:80677857 HEY1 A>G	8	80677857	80677857	A	G	HEY1	c.481T>C	NM_012258.4	NP_036390.3:p.(Tyr161His)	NC_000008.10:g.80677857A>G	VUS	1 lab	2cc8d2b2dd
1:155314039 ASH1L T>G	1	155314039	155314039	T	G	ASH1L	c.7916A>C	NM_018489.3	NP_060959.2:p.(His2639Pro)	NC_000001.10:g.155314039T>G	VUS	1 lab	e12d86ea91
12:113354419 OAS1 G>A	12	113354419	113354419	G	A	OAS1	c.760G>A	NM_016816.4	NP_058132.2:p.(Gly254Arg)	NC_000012.11:g.113354419G>A	(Likely) benign	1 lab	e12e6f7333
19:49303521 BCAT2 C>T	19	49303521	49303521	C	T	BCAT2	c.334G>A	NM_001190.4	NP_001181.2:p.(Asp112Asn)	NC_000019.9:g.49303521C>T	VUS	1 lab	e12ef6c5f9
16:15813472 MYH11 G>C	16	15813472	15813472	G	C	MYH11	c.5052C>G	NM_002474.3	NP_002465.1:p.(Ser1684Arg)	NC_000016.9:g.15813472G>C	VUS	1 lab	e12f034d32
10:43612152 RET A>C	10	43612152	43612152	A	C	RET	c.2257A>C	NM_020975.6	NP_066124.1:p.(Thr753Pro)	NC_000010.10:g.43612152A>C	VUS	1 lab	e12ff7cb2e
X:135288764 FHL1 T>C	X	135288764	135288764	T	C	FHL1	c.204+17T>C	NM_001159699.2	NP_001153171.1:p.?	NC_000023.10:g.135288764T>C	(Likely) benign	1 lab	e130add3bc
19:6454620 SLC25A23 C>T	19	6454620	6454620	C	T	SLC25A23	c.592G>A	NM_024103.3	NP_077008.2:p.(Val198Met)	NC_000019.9:g.6454620C>T	VUS	1 lab	e130b85975
1:196309473 KCNT2 A>G	1	196309473	196309473	A	G	KCNT2	c.1781T>C	NM_198503.5	NP_940905.2:p.(Met594Thr)	NC_000001.10:g.196309473A>G	VUS	1 lab	e131cb4054
17:41197830 BRCA1 A>G	17	41197830	41197830	A	G	BRCA1	c.5468-11T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197830A>G	(Likely) benign	1 lab	e1324a0c02
X:153881722 CTAG2 A>G	X	153881722	153881722	A	G	CTAG2	c.68T>C	NM_172377.5	NP_758965.2:p.(Ile23Thr)	NC_000023.10:g.153881722A>G	(Likely) benign	1 lab	e132c56028
5:13850915 DNAH5 G>A	5	13850915	13850915	G	A	DNAH5	c.4960C>T	NM_001369.3	NP_001360.1:p.(Arg1654Trp)	NC_000005.9:g.13850915G>A	VUS	1 lab	e133db593c
18:14124412 ZNF519 G>T	18	14124412	14124412	G	T	ZNF519	c.67C>A	NM_145287.4	NP_660330.2:p.(Pro23Thr)	NC_000018.9:g.14124412G>T	(Likely) benign	1 lab	e133e040d2
18:12366986 AFG3L2 T>C	18	12366986	12366986	T	C	AFG3L2	c.530A>G	NM_006796.3	NP_006787.2:p.(Asn177Ser)	NC_000018.9:g.12366986T>C	VUS	1 lab	e135201336
12:49443926 KMT2D T>C	12	49443926	49443926	T	C	KMT2D	c.3445A>G	NM_003482.4	NP_003473.3:p.(Lys1149Glu)	NC_000012.11:g.49443926T>C	VUS	1 lab	e13545c02f
22:36684333 MYH9 G>A	22	36684333	36684333	G	A	MYH9	c.4897C>T	NM_002473.6	NP_002464.1:p.(Arg1633Trp)	NC_000022.10:g.36684333G>A	(Likely) benign	1 lab	e1360111ea
11:118209888 CD3D G>A	11	118209888	118209888	G	A	CD3D	c.505C>T	NM_000732.6	NP_000723.1:p.(Arg169Trp)	NC_000011.9:g.118209888G>A	VUS	1 lab	2cce6be2eb
15:69003978 CORO2B T>A	15	69003978	69003978	T	A	CORO2B	c.581T>A	NM_006091.5	NP_006082.3:p.(Leu194Gln)	NC_000015.9:g.69003978T>A	VUS	1 lab	e137e4dd1a
4:148605099 PRMT9 C>A	4	148605099	148605099	C	A	PRMT9	c.40G>T	NM_138364.4	NP_612373.2:p.(Gly14Cys)	NC_000004.11:g.148605099C>A	(Likely) benign	1 lab	e13a9e963f
5:42713616 GHR G>A	5	42713616	42713616	G	A	GHR	c.870G>A	NM_000163.5	NP_000154.1:p.(Gln290=)	NC_000005.9:g.42713616G>A	VUS	1 lab	e13bbeb892
3:50415209 CACNA2D2 G>A	3	50415209	50415209	G	A	CACNA2D2	c.1505C>T	NM_006030.4	NP_006021.2:p.(Thr502Ile)	NC_000003.11:g.50415209G>A	VUS	1 lab	e13c3270c2
1:161137808 PPOX C>G	1	161137808	161137808	C	G	PPOX	c.362C>G	NM_001122764.3	NP_001116236.1:p.(Pro121Arg)	NC_000001.10:g.161137808C>G	VUS	1 lab	e13f55a02d
X:24329884 SUPT20HL2 A>AAGCAGGAGCAGC	X	24329884	24329907	A	AAGCAGGAGCAGC	SUPT20HL2	c.1537_1548dup	NM_001136233.3	NP_001129705.3:p.(Ala513_Ala516dup)	NC_000023.10:g.24329896_24329907dup	(Likely) benign	1 lab	e14183abe1
19:17015161 CPAMD8 C>T	19	17015161	17015161	C	T	CPAMD8	c.4126G>A	NM_015692.5	NP_056507.3:p.(Glu1376Lys)	NC_000019.9:g.17015161C>T	VUS	1 lab	e142e10a14
2:80529610 CTNNA2 C>T	2	80529610	80529610	C	T	CTNNA2	c.1057-90726C>T	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.80529610C>T	VUS	1 lab	e143b1e73a
19:40408461 FCGBP A>C	19	40408461	40408461	A	C	FCGBP	c.4378T>G	NM_003890.3	NP_003881.2:p.(Phe1460Val)	NC_000019.9:g.40408461A>C	VUS	1 lab	e1443c590f
16:86545048 FOXF1 C>T	16	86545048	86545048	C	T	FOXF1	c.873C>T	NM_001451.3	NP_001442.2:p.(Ser291=)	NC_000016.9:g.86545048C>T	(Likely) benign	1 lab	2f0c851d86
11:71202948 NADSYN1 A>T	11	71202948	71202948	A	T	NADSYN1	c.1763A>T	NM_018161.5	NP_060631.2:p.(Glu588Val)	NC_000011.9:g.71202948A>T	VUS	1 lab	e146c9ced6
7:100238776 TFR2 C>T	7	100238776	100238776	C	T	TFR2	c.109G>A	NM_003227.4	NP_003218.2:p.(Glu37Lys)	NC_000007.13:g.100238776C>T	VUS	1 lab	e1482a5805
15:42129307 JMJD7 T>C	15	42129307	42129307	T	C	JMJD7	c.904T>C	NM_001114632.2	NP_001108104.1:p.(Tyr302His)	NC_000015.9:g.42129307T>C	VUS	1 lab	e1497c600f
2:179458778 TTN T>C	2	179458778	179458778	T	C	TTN	c.58342A>G	NM_001267550.2	NP_001254479.2:p.(Lys19448Glu)	NC_000002.11:g.179458778T>C	VUS	1 lab	2ccf2b93d7
2:240061496 HDAC4 C>T	2	240061496	240061496	C	T	HDAC4	c.866-4G>A	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240061496C>T	VUS	1 lab	e14a36b815
6:90499608 MDN1 C>G	6	90499608	90499608	C	G	MDN1	c.1121G>C	NM_014611.3	NP_055426.1:p.(Cys374Ser)	NC_000006.11:g.90499608C>G	(Likely) benign	1 lab	e14b8d5d63
12:79702392 SYT1 A>ACG	12	79702392	79702393	A	ACG	SYT1	c.810+9061_810+9062insCG	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79702392_79702393insCG	(Likely) benign	1 lab	e14c1ef6d7
11:77103549 PAK1 A>G	11	77103549	77103549	A	G	PAK1	c.17T>C	NM_002576.5	NP_002567.3:p.(Leu6Pro)	NC_000011.9:g.77103549A>G	VUS	1 lab	e14cb8808a
9:14845952 FREM1 A>G	9	14845952	14845952	A	G	FREM1	c.1393+6T>C	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14845952A>G	VUS	1 lab	e14d497b2f
19:15303100 NOTCH3 C>T	19	15303100	15303100	C	T	NOTCH3	c.350G>A	NM_000435.3	NP_000426.2:p.(Cys117Tyr)	NC_000019.9:g.15303100C>T	(Likely) pathogenic	1 lab	e14df19b76
2:74883773 SEMA4F C>T	2	74883773	74883773	C	T	SEMA4F	c.258C>T	NM_004263.5	NP_004254.2:p.(Phe86=)	NC_000002.11:g.74883773C>T	(Likely) benign	1 lab	e152a1f73f
X:153695704 PLXNA3 G>T	X	153695704	153695704	G	T	PLXNA3	c.3331G>T	NM_017514.5	NP_059984.3:p.(Ala1111Ser)	NC_000023.10:g.153695704G>T	VUS	1 lab	e152b27c0e
8:104330930 FZD6 A>T	8	104330930	104330930	A	T	FZD6	c.290A>T	NM_003506.4	NP_003497.2:p.(Lys97Ile)	NC_000008.10:g.104330930A>T	VUS	1 lab	e15324a41a
1:12887416 PRAMEF11 A>C	1	12887416	12887416	A	C	PRAMEF11	c.567T>G	NM_001146344.3	NP_001139816.2:p.(Ile189Met)	NC_000001.10:g.12887416A>C	(Likely) benign	1 lab	e153656b89
19:5707760 LONP1 G>A	19	5707760	5707760	G	A	LONP1	c.1010C>T	NM_004793.4	NP_004784.2:p.(Ala337Val)	NC_000019.9:g.5707760G>A	VUS	1 lab	e15565c78c
20:62323138 RTEL1 C>T	20	62323138	62323138	C	T	RTEL1	c.2600C>T	NM_001283009.2	NP_001269938.1:p.(Pro867Leu)	NC_000020.10:g.62323138C>T	VUS	1 lab	e155e956c0
3:48608107 COL7A1 C>CT	3	48608107	48608108	C	CT	COL7A1	c.7308dup	NM_000094.4	NP_000085.1:p.(Gly2437ArgfsTer46)	NC_000003.11:g.48608108dup	(Likely) pathogenic	1 lab	2ccff6a2fc
4:106197000 TET2 A>G	4	106197000	106197000	A	G	TET2	c.5333A>G	NM_001127208.3	NP_001120680.1:p.(His1778Arg)	NC_000004.11:g.106197000A>G	(Likely) benign	1 lab	e159362bf6
16:89805042 FANCA G>C	16	89805042	89805042	G	C	FANCA	c.4335C>G	NM_000135.4	NP_000126.2:p.(Asp1445Glu)	NC_000016.9:g.89805042G>C	VUS	1 lab	e1595029f8
19:34929648 UBA2 C>T	19	34929648	34929648	C	T	UBA2	c.558C>T	NM_005499.3	NP_005490.1:p.(Ile186=)	NC_000019.9:g.34929648C>T	(Likely) benign	1 lab	e15a438626
19:5694881 LONP1 C>G	19	5694881	5694881	C	G	LONP1	c.2045G>C	NM_004793.4	NP_004784.2:p.(Cys682Ser)	NC_000019.9:g.5694881C>G	(Likely) benign	1 lab	e15d026022
16:87925458 CA5A C>T	16	87925458	87925458	C	T	CA5A	c.721G>A	NM_001739.2	NP_001730.1:p.(Glu241Lys)	NC_000016.9:g.87925458C>T	(Likely) pathogenic	1 lab	e15ff0b014
18:31325865 ASXL3 C>T	18	31325865	31325865	C	T	ASXL3	c.6053C>T	NM_030632.3	NP_085135.1:p.(Pro2018Leu)	NC_000018.9:g.31325865C>T	(Likely) benign	1 lab	e15fff8039
8:38314918 FGFR1 G>A	8	38314918	38314918	G	A	FGFR1	c.47C>T	NM_023110.3	NP_075598.2:p.(Ala16Val)	NC_000008.10:g.38314918G>A	VUS	1 lab	e16266ab61
9:139272495 SNAPC4 G>C	9	139272495	139272495	G	C	SNAPC4	c.3784C>G	NM_003086.4	NP_003077.2:p.(Pro1262Ala)	NC_000009.11:g.139272495G>C	(Likely) benign	1 lab	e16499a756
1:211243772 KCNH1 A>AC	1	211243772	211243773	A	AC	KCNH1	c.558+12349_558+12350insG	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211243772_211243773insC	(Likely) benign	1 lab	e164a28f06
10:104629554 AS3MT C>G	10	104629554	104629554	C	G	AS3MT	c.2-8C>G	NM_020682.4	NP_065733.2:p.?	NC_000010.10:g.104629554C>G	VUS	1 lab	e16520ee66
X:21875614 MBTPS2 G>A	X	21875614	21875614	G	A	MBTPS2	c.670+3993G>A	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21875614G>A	(Likely) benign	1 lab	e16680c7aa
3:172165424 GHSR T>A	3	172165424	172165424	T	A	GHSR	c.780A>T	NM_198407.2	NP_940799.1:p.(Gln260His)	NC_000003.11:g.172165424T>A	VUS	1 lab	e167558a75
22:26351314 MYO18B G>A	22	26351314	26351314	G	A	MYO18B	c.6140G>A	NM_032608.7	NP_115997.5:p.(Arg2047Gln)	NC_000022.10:g.26351314G>A	(Likely) benign	1 lab	e167dd04fd
12:29904620 TMTC1 C>T	12	29904620	29904620	C	T	TMTC1	c.917G>A	NM_001193451.2	NP_001180380.1:p.(Arg306Gln)	NC_000012.11:g.29904620C>T	VUS	1 lab	e16847dab4
5:176637214 NSD1 A>G	5	176637214	176637214	A	G	NSD1	c.1814A>G	NM_022455.5	NP_071900.2:p.(Glu605Gly)	NC_000005.9:g.176637214A>G	VUS	1 lab	e1688730e9
1:226065076 TMEM63A GACTCATGAGGGC>G	1	226065076	226065088	GACTCATGAGGGC	G	TMEM63A	c.186+7_186+18del	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226065077_226065088del	VUS	1 lab	e176148a8e
16:72821612 ZFHX3 G>GCCGCCGCCA	16	72821612	72821618	G	GCCGCCGCCA	ZFHX3	c.10562_10563insTGGCGGCGG	NM_006885.4	NP_008816.3:p.(Gly3525_Gly3527dup)	NC_000016.9:g.72821617_72821618insGCCACCGCC	VUS	1 lab	e168ec5e72
14:65271737 SPTB G>A	14	65271737	65271737	G	A	SPTB	c.220C>T	NM_001355436.2	NP_001342365.1:p.(Arg74Cys)	NC_000014.8:g.65271737G>A	VUS	1 lab	2cd0dbdccb
19:13054564 CALR AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG>A	19	13054564	13054623	AGCAGAGGCTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAG	A	CALR	c.1099_1150del	NM_004343.4	NP_004334.1:p.(Leu367ThrfsTer46)	NC_000019.9:g.13054572_13054623del	(Likely) pathogenic	1 lab	e16ac34723
11:17418522 ABCC8 C>T	11	17418522	17418522	C	T	ABCC8	c.4060G>A	NM_000352.6	NP_000343.2:p.(Asp1354Asn)	NC_000011.9:g.17418522C>T	VUS	1 lab	e16ac460d7
20:61459311 COL9A3 G>A	20	61459311	61459311	G	A	COL9A3	c.883G>A	NM_001853.4	NP_001844.3:p.(Gly295Arg)	NC_000020.10:g.61459311G>A	VUS	1 lab	e16b1053c1
10:112771535 SHOC2 C>T	10	112771535	112771535	C	T	SHOC2	c.1708C>T	NM_007373.4	NP_031399.2:p.(Gln570Ter)	NC_000010.10:g.112771535C>T	VUS	1 lab	e16e57287b
2:74689667 MOGS C>CA	2	74689667	74689668	C	CA	MOGS	c.1248_1249insT	NM_006302.3	NP_006293.2:p.(Val417CysfsTer5)	NC_000002.11:g.74689667_74689668insA	VUS	1 lab	e16fa8dab9
8:61655042 CHD7 G>A	8	61655042	61655042	G	A	CHD7	c.1051G>A	NM_017780.4	NP_060250.2:p.(Val351Ile)	NC_000008.10:g.61655042G>A	(Likely) benign	1 lab	e170c24841
22:30980699 PES1 G>A	22	30980699	30980699	G	A	PES1	c.374C>T	NM_014303.4	NP_055118.1:p.(Pro125Leu)	NC_000022.10:g.30980699G>A	VUS	1 lab	e17289bf15
17:10538221 MYH3 A>G	17	10538221	10538221	A	G	MYH3	c.4292T>C	NM_002470.4	NP_002461.2:p.(Val1431Ala)	NC_000017.10:g.10538221A>G	VUS	1 lab	e1738d1ef2
2:210786307 UNC80 G>C	2	210786307	210786307	G	C	UNC80	c.5427G>C	NM_001371986.1	NP_001358915.1:p.(Lys1809Asn)	NC_000002.11:g.210786307G>C	(Likely) benign	1 lab	e17536e1ad
11:61120544 CYB561A3 G>T	11	61120544	61120544	G	T	CYB561A3	c.461C>A	NM_153611.6	NP_705839.3:p.(Pro154His)	NC_000011.9:g.61120544G>T	VUS	1 lab	e17586eae4
16:2164922 PKD1 G>A	16	2164922	2164922	G	A	PKD1	c.2102C>T	NM_001009944.3	NP_001009944.3:p.(Thr701Ile)	NC_000016.9:g.2164922G>A	VUS	1 lab	e175c7313c
6:43018866 CUL7 C>T	6	43018866	43018866	C	T	CUL7	c.1073G>A	NM_014780.5	NP_055595.2:p.(Arg358His)	NC_000006.11:g.43018866C>T	VUS	1 lab	e1e7d21a86
22:26299708 MYO18B G>T	22	26299708	26299708	G	T	MYO18B	c.5058G>T	NM_032608.7	NP_115997.5:p.(Leu1686Phe)	NC_000022.10:g.26299708G>T	VUS	1 lab	e1763edd50
17:38457869 CDC6 G>T	17	38457869	38457869	G	T	CDC6	c.1593+9G>T	NM_001254.4	NP_001245.1:p.?	NC_000017.10:g.38457869G>T	(Likely) benign	1 lab	e1769d60e6
2:132021715 POTEE G>A	2	132021715	132021715	G	A	POTEE	c.2687G>A	NM_001083538.3	NP_001077007.1:p.(Arg896His)	NC_000002.11:g.132021715G>A	(Likely) benign	1 lab	e17713f5d5
19:12790506 DHPS C>G	19	12790506	12790506	C	G	DHPS	c.522G>C	NM_001930.4	NP_001921.1:p.(Glu174Asp)	NC_000019.9:g.12790506C>G	(Likely) benign	1 lab	e177697c16
6:132196927 ENPP1 TG>T	6	132196927	132196929	TG	T	ENPP1	c.1649del	NM_006208.3	NP_006199.2:p.(Gly550AlafsTer23)	NC_000006.11:g.132196929del	VUS	1 lab	e1781cb860
11:44254050 EXT2 AG>A	11	44254050	44254055	AG	A	EXT2	c.1806+9del	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44254055del	(Likely) benign	1 lab	e17869756f
8:99168387 POP1 G>A	8	99168387	99168387	G	A	POP1	c.2167G>A	NM_001145860.2	NP_001139332.1:p.(Glu723Lys)	NC_000008.10:g.99168387G>A	VUS	1 lab	e179515817
6:84108085 ME1 C>T	6	84108085	84108085	C	T	ME1	c.362+1G>A	NM_002395.6	NP_002386.1:p.?	NC_000006.11:g.84108085C>T	VUS	1 lab	e17a08ad37
X:151124322 GABRE C>G	X	151124322	151124322	C	G	GABRE	c.795G>C	NM_004961.4	NP_004952.2:p.(Met265Ile)	NC_000023.10:g.151124322C>G	VUS	1 lab	e17a93fcfa
5:139228041 NRG2 G>A	5	139228041	139228041	G	A	NRG2	c.2014C>T	NM_004883.3	NP_004874.1:p.(Arg672Cys)	NC_000005.9:g.139228041G>A	(Likely) benign	1 lab	e17bd3c299
1:12057472 MFN2 T>G	1	12057472	12057472	T	G	MFN2	c.593T>G	NM_014874.4	NP_055689.1:p.(Met198Arg)	NC_000001.10:g.12057472T>G	VUS	1 lab	e17c174282
17:33504530 UNC45B G>A	17	33504530	33504530	G	A	UNC45B	c.2156G>A	NM_001267052.2	NP_001253981.1:p.(Arg719Gln)	NC_000017.10:g.33504530G>A	VUS	1 lab	e17da15728
2:211471475 CPS1 C>G	2	211471475	211471475	C	G	CPS1	c.2002C>G	NM_001875.5	NP_001866.2:p.(Pro668Ala)	NC_000002.11:g.211471475C>G	VUS	1 lab	e17e19a0ab
6:44272491 AARS2 G>A	6	44272491	44272491	G	A	AARS2	c.1643C>T	NM_020745.4	NP_065796.2:p.(Ser548Phe)	NC_000006.11:g.44272491G>A	(Likely) benign	1 lab	e17f0b0ae9
19:13054574 CALR TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGG>T	19	13054574	13054609	TAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGG	T	CALR	c.1103_1136del	NM_004343.4	NP_004334.1:p.(Lys368ArgfsTer51)	NC_000019.9:g.13054576_13054609del	(Likely) pathogenic	1 lab	e180365741
11:118963677 HMBS C>A	11	118963677	118963677	C	A	HMBS	c.858C>A	NM_000190.4	NP_000181.2:p.(Asp286Glu)	NC_000011.9:g.118963677C>A	VUS	1 lab	e185ebe30f
9:108297554 FSD1L G>A	9	108297554	108297554	G	A	FSD1L	c.1333G>A	NM_001145313.3	NP_001138785.1:p.(Val445Ile)	NC_000009.11:g.108297554G>A	(Likely) benign	1 lab	e185f73167
19:1460245 APC2 C>A	19	1460245	1460245	C	A	APC2	c.1369C>A	NM_005883.3	NP_005874.1:p.(Pro457Thr)	NC_000019.9:g.1460245C>A	VUS	1 lab	e1864d7364
3:87294943 CHMP2B G>A	3	87294943	87294943	G	A	CHMP2B	c.206G>A	NM_014043.4	NP_054762.2:p.(Arg69Gln)	NC_000003.11:g.87294943G>A	VUS	1 lab	e1880fbb3f
19:35250976 ZNF599 G>A	19	35250976	35250976	G	A	ZNF599	c.730C>T	NM_001007248.3	NP_001007249.1:p.(Arg244Ter)	NC_000019.9:g.35250976G>A	VUS	1 lab	e18954c5c5
14:68029286 PLEKHH1 C>T	14	68029286	68029286	C	T	PLEKHH1	c.938C>T	NM_020715.3	NP_065766.1:p.(Pro313Leu)	NC_000014.8:g.68029286C>T	(Likely) benign	1 lab	e189a9f8cd
2:29287763 PCARE G>T	2	29287763	29287763	G	T	PCARE	c.3839C>A	NM_001029883.3	NP_001025054.1:p.(Ala1280Glu)	NC_000002.11:g.29287763G>T	(Likely) benign	1 lab	e18adf78ca
20:43057132 HNF4A G>A	20	43057132	43057132	G	A	HNF4A	c.1282+5G>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43057132G>A	VUS	1 lab	e18b65d40a
5:35955844 UGT3A1 G>A	5	35955844	35955844	G	A	UGT3A1	c.1198C>T	NM_152404.4	NP_689617.3:p.(Arg400Ter)	NC_000005.9:g.35955844G>A	VUS	1 lab	e18be10e77
6:43268950 SLC22A7 C>T	6	43268950	43268950	C	T	SLC22A7	c.905C>T	NM_153320.2	NP_696961.2:p.(Ala302Val)	NC_000006.11:g.43268950C>T	VUS	1 lab	e18d5474d0
6:41128974 TREM2 C>G	6	41128974	41128974	C	G	TREM2	c.391+27G>C	NM_018965.4	NP_061838.1:p.?	NC_000006.11:g.41128974C>G	(Likely) benign	1 lab	e18d69a99d
20:36031750 SRC G>A	20	36031750	36031750	G	A	SRC	c.1579G>A	NM_198291.3	NP_938033.1:p.(Glu527Lys)	NC_000020.10:g.36031750G>A	(Likely) pathogenic	1 lab	e18e776a75
11:17426181 ABCC8 G>A	11	17426181	17426181	G	A	ABCC8	c.3435C>T	NM_000352.6	NP_000343.2:p.(Ser1145=)	NC_000011.9:g.17426181G>A	(Likely) benign	1 lab	e19155de69
4:159631829 PPID T>C	4	159631829	159631829	T	C	PPID	c.982-7A>G	NM_005038.3	NP_005029.1:p.?	NC_000004.11:g.159631829T>C	(Likely) benign	1 lab	e192a38023
11:72091370 CLPB T>C	11	72091370	72091370	T	C	CLPB	c.601A>G	NM_001258392.3	NP_001245321.1:p.(Ser201Gly)	NC_000011.9:g.72091370T>C	VUS	1 lab	e193222e8d
8:22972282 TNFRSF10C A>G	8	22972282	22972282	A	G	TNFRSF10C	c.279A>G	NM_003841.5	NP_003832.3:p.(Ser93=)	NC_000008.10:g.22972282A>G	(Likely) benign	1 lab	e19333787d
1:108691018 SLC25A24 C>T	1	108691018	108691018	C	T	SLC25A24	c.823-10G>A	NM_013386.5	NP_037518.3:p.?	NC_000001.10:g.108691018C>T	VUS	1 lab	e1963a6e06
8:2048729 MYOM2 C>T	8	2048729	2048729	C	T	MYOM2	c.2504C>T	NM_003970.4	NP_003961.3:p.(Ala835Val)	NC_000008.10:g.2048729C>T	VUS	1 lab	2cd3726125
19:6495363 TUBB4A C>T	19	6495363	6495363	C	T	TUBB4A	c.1147G>A	NM_006087.4	NP_006078.2:p.(Glu383Lys)	NC_000019.9:g.6495363C>T	(Likely) benign	1 lab	e1975fe8ea
13:36124614 NBEA G>A	13	36124614	36124614	G	A	NBEA	c.6586G>A	NM_001385012.1	NP_001371941.1:p.(Val2196Ile)	NC_000013.10:g.36124614G>A	(Likely) benign	1 lab	e199a912cc
3:184033625 EIF4G1 CAT>C	3	184033625	184033627	CAT	C	EIF4G1	c.42_43del	NM_198241.3	NP_937884.2:p.(Ser15ProfsTer39)	NC_000003.11:g.184033626_184033627del	(Likely) benign	1 lab	e199d56a81
5:112179220 APC A>G	5	112179220	112179220	A	G	APC	c.7929A>G	NM_000038.6	NP_000029.2:p.(Leu2643=)	NC_000005.9:g.112179220A>G	(Likely) benign	1 lab	e19a4c1496
19:50831721 KCNC3 G>C	19	50831721	50831721	G	C	KCNC3	c.619C>G	NM_004977.3	NP_004968.2:p.(Pro207Ala)	NC_000019.9:g.50831721G>C	(Likely) benign	1 lab	e19c60b85d
5:172750235 STC2 A>G	5	172750235	172750235	A	G	STC2	c.493T>C	NM_003714.3	NP_003705.1:p.(Leu165=)	NC_000005.9:g.172750235A>G	(Likely) benign	1 lab	e19c6202f1
1:158225050 CD1A G>A	1	158225050	158225050	G	A	CD1A	c.235G>A	NM_001763.3	NP_001754.2:p.(Glu79Lys)	NC_000001.10:g.158225050G>A	VUS	1 lab	e19d0b3943
14:92472218 TRIP11 T>C	14	92472218	92472218	T	C	TRIP11	c.2102A>G	NM_004239.4	NP_004230.2:p.(Asn701Ser)	NC_000014.8:g.92472218T>C	(Likely) benign	1 lab	e19e2844c4
11:68131324 LRP5 C>T	11	68131324	68131324	C	T	LRP5	c.796C>T	NM_002335.4	NP_002326.2:p.(Arg266Cys)	NC_000011.9:g.68131324C>T	VUS	1 lab	e1b3e8c916
13:77786084 MYCBP2 G>A	13	77786084	77786084	G	A	MYCBP2	c.3262+7C>T	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77786084G>A	VUS	1 lab	e1a0ea5c5d
1:226035911 TMEM63A C>A	1	226035911	226035911	C	A	TMEM63A	c.2250+282G>T	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226035911C>A	(Likely) benign	1 lab	e1a14342a3
11:65636038 EFEMP2 G>A	11	65636038	65636038	G	A	EFEMP2	c.790C>T	NM_016938.5	NP_058634.4:p.(Arg264Cys)	NC_000011.9:g.65636038G>A	VUS	1 lab	e1a146f6ef
16:5131045 ALG1 C>CA	16	5131045	5131046	C	CA	ALG1	c.1060_1061insA	NM_019109.5	NP_061982.3:p.(Pro354HisfsTer46)	NC_000016.9:g.5131045_5131046insA	VUS	1 lab	e1a20c9082
19:46272060 SIX5 C>A	19	46272060	46272060	C	A	SIX5	c.43G>T	NM_175875.5	NP_787071.3:p.(Gly15Trp)	NC_000019.9:g.46272060C>A	VUS	1 lab	e1a674294f
19:12761040 MAN2B1 C>T	19	12761040	12761040	C	T	MAN2B1	c.2047-4G>A	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12761040C>T	(Likely) benign	1 lab	e1a7ba96df
2:42997703 HAAO T>C	2	42997703	42997703	T	C	HAAO	c.370A>G	NM_012205.3	NP_036337.2:p.(Met124Val)	NC_000002.11:g.42997703T>C	VUS	1 lab	e1a8912341
16:88947756 CBFA2T3 C>T	16	88947756	88947756	C	T	CBFA2T3	c.1345G>A	NM_005187.6	NP_005178.4:p.(Ala449Thr)	NC_000016.9:g.88947756C>T	(Likely) benign	1 lab	e1aab66fec
4:88766142 MEPE A>T	4	88766142	88766142	A	T	MEPE	c.122A>T	NM_020203.6	NP_064588.1:p.(Asn41Ile)	NC_000004.11:g.88766142A>T	VUS	1 lab	e1ac596862
3:155421944 PLCH1 C>T	3	155421944	155421944	C	T	PLCH1	c.70G>A	NM_014996.4	NP_055811.2:p.(Val24Met)	NC_000003.11:g.155421944C>T	VUS	1 lab	e1b20908d9
19:50139988 RRAS C>T	19	50139988	50139988	C	T	RRAS	c.345-4G>A	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50139988C>T	(Likely) benign	1 lab	e1b23ff20f
8:42295041 SLC20A2 G>A	8	42295041	42295041	G	A	SLC20A2	c.989C>T	NM_001257180.2	NP_001244109.1:p.(Thr330Ile)	NC_000008.10:g.42295041G>A	(Likely) benign	1 lab	e1b6e2d700
16:89371728 ANKRD11 T>G	16	89371728	89371728	T	G	ANKRD11	c.112A>C	NM_013275.6	NP_037407.4:p.(Lys38Gln)	NC_000016.9:g.89371728T>G	VUS	1 lab	2cd57c697f
9:72874183 SMC5 A>C	9	72874183	72874183	A	C	SMC5	c.185+4A>C	NM_015110.4	NP_055925.2:p.?	NC_000009.11:g.72874183A>C	(Likely) benign	1 lab	e1b88ced81
15:75656882 MAN2C1 G>T	15	75656882	75656882	G	T	MAN2C1	c.547C>A	NM_006715.4	NP_006706.2:p.(Arg183=)	NC_000015.9:g.75656882G>T	VUS	1 lab	e1b953047a
2:113514026 CKAP2L T>C	2	113514026	113514026	T	C	CKAP2L	c.922A>G	NM_152515.5	NP_689728.3:p.(Ser308Gly)	NC_000002.11:g.113514026T>C	(Likely) benign	1 lab	e1bd6a1aee
16:2161008 PKD1 G>A	16	2161008	2161008	G	A	PKD1	c.4160C>T	NM_001009944.3	NP_001009944.3:p.(Pro1387Leu)	NC_000016.9:g.2161008G>A	VUS	1 lab	e1bd74ed73
15:33878327 RYR3 G>C	15	33878327	33878327	G	C	RYR3	c.1788+10G>C	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.33878327G>C	(Likely) benign	1 lab	e1be62ee53
14:105850798 PACS2 C>T	14	105850798	105850798	C	T	PACS2	c.1889C>T	NM_001100913.3	NP_001094383.2:p.(Ala630Val)	NC_000014.8:g.105850798C>T	(Likely) benign	1 lab	e1be786e65
19:18705208 CRLF1 C>A	19	18705208	18705208	C	A	CRLF1	c.1061G>T	NM_004750.5	NP_004741.1:p.(Arg354Leu)	NC_000019.9:g.18705208C>A	(Likely) benign	1 lab	e1bf7f9c48
19:34954978 UBA2 C>T	19	34954978	34954978	C	T	UBA2	c.1546C>T	NM_005499.3	NP_005490.1:p.(Arg516Trp)	NC_000019.9:g.34954978C>T	VUS	1 lab	e1c07b068a
13:111082307 COL4A2 C>T	13	111082307	111082307	C	T	COL4A2	c.549+4C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111082307C>T	(Likely) benign	1 lab	e1c0bf532b
20:478422 CSNK2A1 T>C	20	478422	478422	T	C	CSNK2A1	c.369A>G	NM_177559.3	NP_808227.1:p.(Gln123=)	NC_000020.10:g.478422T>C	(Likely) benign	1 lab	e1c1a621ee
19:16855350 NWD1 G>A	19	16855350	16855350	G	A	NWD1	c.317G>A	NM_001007525.5	NP_001007526.3:p.(Arg106Gln)	NC_000019.9:g.16855350G>A	VUS	1 lab	e1c1d4c2cf
19:39398122 NFKBIB C>T	19	39398122	39398122	C	T	NFKBIB	c.792C>T	NM_002503.5	NP_002494.2:p.(Gly264=)	NC_000019.9:g.39398122C>T	(Likely) benign	1 lab	e1c24d9a8e
19:15272114 NOTCH3 G>A	19	15272114	15272114	G	A	NOTCH3	c.6325C>T	NM_000435.3	NP_000426.2:p.(Arg2109Trp)	NC_000019.9:g.15272114G>A	VUS	1 lab	e1c2575a3a
10:96076526 PLCE1 G>A	10	96076526	96076526	G	A	PLCE1	c.6342+13G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96076526G>A	(Likely) benign	1 lab	2f25cea886
15:52543612 MYO5C A>G	15	52543612	52543612	A	G	MYO5C	c.1637T>C	NM_018728.4	NP_061198.2:p.(Phe546Ser)	NC_000015.9:g.52543612A>G	VUS	1 lab	e1c290c19f
13:25043166 PARP4 G>A	13	25043166	25043166	G	A	PARP4	c.2129C>T	NM_006437.4	NP_006428.2:p.(Ala710Val)	NC_000013.10:g.25043166G>A	VUS	1 lab	e1c2aab7b9
2:236839475 AGAP1 G>A	2	236839475	236839475	G	A	AGAP1	c.1391G>A	NM_001037131.3	NP_001032208.1:p.(Arg464Gln)	NC_000002.11:g.236839475G>A	VUS	1 lab	e1c3e502d6
18:53131338 TCF4 C>T	18	53131338	53131338	C	T	TCF4	c.176G>A	NM_001083962.2	NP_001077431.1:p.(Trp59Ter)	NC_000018.9:g.53131338C>T	VUS	1 lab	e1c4187f17
7:148514959 EZH2 C>T	7	148514959	148514959	C	T	EZH2	c.1240+10G>A	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148514959C>T	(Likely) benign	1 lab	e1c589c960
17:42636629 FZD2 T>C	17	42636629	42636629	T	C	FZD2	c.1573T>C	NM_001466.4	NP_001457.1:p.(Tyr525His)	NC_000017.10:g.42636629T>C	VUS	1 lab	e1c63b43a5
16:29855912 MVP G>A	16	29855912	29855912	G	A	MVP	c.1733G>A	NM_005115.5	NP_005106.2:p.(Arg578Gln)	NC_000016.9:g.29855912G>A	VUS	1 lab	e1c927b48e
X:48887947 TFE3 C>T	X	48887947	48887947	C	T	TFE3	c.1450G>A	NM_006521.6	NP_006512.2:p.(Ala484Thr)	NC_000023.10:g.48887947C>T	VUS	1 lab	e1cc0487c9
1:13413928 PRAMEF10 C>G	1	13413928	13413928	C	G	PRAMEF10	c.871C>G	NM_001039361.4	NP_001034450.3:p.(Leu291Val)	NC_000001.10:g.13413928C>G	VUS	1 lab	e1cc38bb2a
15:99456399 IGF1R G>A	15	99456399	99456399	G	A	IGF1R	c.1716G>A	NM_000875.5	NP_000866.1:p.(Lys572=)	NC_000015.9:g.99456399G>A	(Likely) benign	1 lab	e1cc7b756b
6:33134570 COL11A2 G>A	6	33134570	33134570	G	A	COL11A2	c.4265C>T	NM_080680.3	NP_542411.2:p.(Pro1422Leu)	NC_000006.11:g.33134570G>A	VUS	1 lab	2cd6568810
14:67779245 PALS1 T>G	14	67779245	67779245	T	G	PALS1	c.1043T>G	NM_022474.4	NP_071919.2:p.(Ile348Ser)	NC_000014.8:g.67779245T>G	VUS	1 lab	e1d1d58f9f
X:153136272 L1CAM C>A	X	153136272	153136272	C	A	L1CAM	c.667G>T	NM_001278116.2	NP_001265045.1:p.(Glu223Ter)	NC_000023.10:g.153136272C>A	(Likely) pathogenic	1 lab	2cd8bfb975
19:7125459 INSR C>G	19	7125459	7125459	C	G	INSR	c.3093G>C	NM_000208.4	NP_000199.2:p.(Gln1031His)	NC_000019.9:g.7125459C>G	VUS	1 lab	e1d4b89735
2:220342407 SPEG C>T	2	220342407	220342407	C	T	SPEG	c.4730-4C>T	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220342407C>T	(Likely) benign	1 lab	e1d5db5618
12:52309054 ACVRL1 T>C	12	52309054	52309054	T	C	ACVRL1	c.818T>C	NM_000020.2	NP_000011.2:p.(Leu273Pro)	NC_000012.11:g.52309054T>C	(Likely) pathogenic	1 lab	2f267ef553
4:5624507 EVC2 C>T	4	5624507	5624507	C	T	EVC2	c.2258G>A	NM_147127.5	NP_667338.3:p.(Arg753His)	NC_000004.11:g.5624507C>T	VUS	1 lab	e1d6be4814
X:30254357 MAGEB3 T>C	X	30254357	30254357	T	C	MAGEB3	c.316T>C	NM_002365.5	NP_002356.2:p.(Ser106Pro)	NC_000023.10:g.30254357T>C	VUS	1 lab	e1d704eae0
6:28297267 ZSCAN31 T>C	6	28297267	28297267	T	C	ZSCAN31	c.194A>G	NM_030899.5	NP_112161.3:p.(His65Arg)	NC_000006.11:g.28297267T>C	VUS	1 lab	e1d746c836
2:178740656 PDE11A G>A	2	178740656	178740656	G	A	PDE11A	c.1303-6C>T	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178740656G>A	(Likely) benign	1 lab	e1da5bd14d
11:7673029 PPFIBP2 T>C	11	7673029	7673029	T	C	PPFIBP2	c.2390T>C	NM_003621.5	NP_003612.3:p.(Met797Thr)	NC_000011.9:g.7673029T>C	(Likely) benign	1 lab	e1dad54d39
18:33793426 MOCOS T>C	18	33793426	33793426	T	C	MOCOS	c.1316T>C	NM_017947.4	NP_060417.4:p.(Met439Thr)	NC_000018.9:g.33793426T>C	(Likely) benign	1 lab	2f2902c1e9
6:26234605 H1-3 GCTT>G	6	26234605	26234608	GCTT	G	H1-3	c.554_556del	NM_005320.3	NP_005311.1:p.(Lys185_Ala186delinsThr)	NC_000006.11:g.26234606_26234608del	(Likely) benign	1 lab	e1dc26a799
17:62038554 SCN4A A>C	17	62038554	62038554	A	C	SCN4A	c.1844T>G	NM_000334.4	NP_000325.4:p.(Leu615Arg)	NC_000017.10:g.62038554A>C	(Likely) benign	1 lab	e1dcc9ee67
2:152426665 NEB T>G	2	152426665	152426665	T	G	NEB	c.17360A>C	NM_001164508.2	NP_001157980.2:p.(His5787Pro)	NC_000002.11:g.152426665T>G	VUS	1 lab	e1dcd47df3
10:89544224 ATAD1 T>C	10	89544224	89544224	T	C	ATAD1	c.583+3A>G	NM_001321967.2	NP_001308896.1:p.?	NC_000010.10:g.89544224T>C	(Likely) benign	1 lab	e1dd0bef9e
19:1104777 GPX4 G>C	19	1104777	1104777	G	C	GPX4	c.85-408G>C	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1104777G>C	VUS	1 lab	e1df8db95a
19:39329233 HNRNPL G>C	19	39329233	39329233	G	C	HNRNPL	c.1361C>G	NM_001533.3	NP_001524.2:p.(Ser454Cys)	NC_000019.9:g.39329233G>C	VUS	1 lab	e1dfec2f8c
9:35808508 NPR2 G>A	9	35808508	35808508	G	A	NPR2	c.2715G>A	NM_003995.4	NP_003986.2:p.(Val905=)	NC_000009.11:g.35808508G>A	(Likely) benign	1 lab	e1e07032f2
18:19751536 GATA6 CGGA>C	18	19751536	19751543	CGGA	C	GATA6	c.436_438del	NM_005257.6	NP_005248.2:p.(Glu146del)	NC_000018.9:g.19751541_19751543del	VUS	1 lab	e1e0cc8748
1:1289446 MXRA8 C>T	1	1289446	1289446	C	T	MXRA8	c.1186G>A	NM_032348.4	NP_115724.1:p.(Asp396Asn)	NC_000001.10:g.1289446C>T	(Likely) benign	1 lab	e1e17d4095
16:202927 HBZ G>T	16	202927	202927	G	T	HBZ	c.19G>T	NM_005332.3	NP_005323.1:p.(Glu7Ter)	NC_000016.9:g.202927G>T	(Likely) benign	1 lab	e241d89530
Y:16952483 NLGN4Y C>A	Y	16952483	16952483	C	A	NLGN4Y	c.1852C>A	NM_001365588.1	NP_001352517.1:p.(His618Asn)	NC_000024.9:g.16952483C>A	(Likely) benign	1 lab	e1e2f2a348
16:30990801 SETD1A C>T	16	30990801	30990801	C	T	SETD1A	c.3694C>T	NM_014712.3	NP_055527.1:p.(Arg1232Trp)	NC_000016.9:g.30990801C>T	(Likely) benign	1 lab	e1e358fc69
6:43019004 CUL7 C>T	6	43019004	43019004	C	T	CUL7	c.935G>A	NM_014780.5	NP_055595.2:p.(Arg312His)	NC_000006.11:g.43019004C>T	VUS	1 lab	e1e52ce035
2:24951200 NCOA1 A>G	2	24951200	24951200	A	G	NCOA1	c.2741A>G	NM_003743.5	NP_003734.3:p.(Asp914Gly)	NC_000002.11:g.24951200A>G	VUS	1 lab	e1e73e1b9c
10:81318681 SFTPA2 G>A	10	81318681	81318681	G	A	SFTPA2	c.253C>T	NM_001098668.4	NP_001092138.1:p.(Arg85Cys)	NC_000010.10:g.81318681G>A	(Likely) benign	1 lab	e1e7a0f5ab
17:61995206 GH1 C>G	17	61995206	61995206	C	G	GH1	c.370G>C	NM_000515.5	NP_000506.2:p.(Ala124Pro)	NC_000017.10:g.61995206C>G	VUS	1 lab	e1e7f61c9c
3:9979790 CRELD1 C>T	3	9979790	9979790	C	T	CRELD1	c.460C>T	NM_001077415.3	NP_001070883.2:p.(Pro154Ser)	NC_000003.11:g.9979790C>T	(Likely) benign	1 lab	e1e84f978f
12:65639442 LEMD3 C>T	12	65639442	65639442	C	T	LEMD3	c.2388-7C>T	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65639442C>T	(Likely) benign	1 lab	e1e8fcbb01
11:22296213 ANO5 TA>T	11	22296213	22296215	TA	T	ANO5	c.2336del	NM_213599.3	NP_998764.1:p.(Asn779IlefsTer7)	NC_000011.9:g.22296215del	(Likely) pathogenic	1 lab	e1e8fefa48
5:176023831 GPRIN1 C>T	5	176023831	176023831	C	T	GPRIN1	c.3005G>A	NM_052899.3	NP_443131.2:p.(Arg1002Gln)	NC_000005.9:g.176023831C>T	(Likely) benign	1 lab	e1e9978688
10:5791650 TASOR2 C>A	10	5791650	5791650	C	A	TASOR2	c.6266C>A	NM_001321783.2	NP_001308712.2:p.(Ser2089Ter)	NC_000010.10:g.5791650C>A	VUS	1 lab	e1ec6422f5
4:69688057 UGT2B10 C>A	4	69688057	69688057	C	A	UGT2B10	c.936C>A	NM_001075.6	NP_001066.1:p.(Val312=)	NC_000004.11:g.69688057C>A	VUS	1 lab	e1ed215aae
3:123332955 MYLK CTCT>C	3	123332955	123332963	CTCT	C	MYLK	c.5739_5741del	NM_053025.4	NP_444253.3:p.(Glu1914Ter)	NC_000003.11:g.123332961_123332963del	VUS	1 lab	e1ee26ca2c
12:71029675 PTPRB C>T	12	71029675	71029675	C	T	PTPRB	c.227G>A	NM_001109754.4	NP_001103224.1:p.(Arg76His)	NC_000012.11:g.71029675C>T	(Likely) benign	1 lab	e1eed4075e
1:110167952 AMPD2 C>G	1	110167952	110167952	C	G	AMPD2	c.119C>G	NM_001368809.2	NP_001355738.1:p.(Pro40Arg)	NC_000001.10:g.110167952C>G	VUS	1 lab	e200043883
2:152473986 NEB C>CAAAAAGAAAAAA	2	152473986	152473992	C	CAAAAAGAAAAAA	NEB	c.11077-5_11077-4insTTTTTTCTTTTT	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473991_152473992insGAAAAAAAAAAA	VUS	1 lab	e1efe2460a
16:46934664 GPT2 C>T	16	46934664	46934664	C	T	GPT2	c.404C>T	NM_133443.4	NP_597700.1:p.(Ala135Val)	NC_000016.9:g.46934664C>T	VUS	1 lab	e1f04bd3af
6:129634062 LAMA2 C>G	6	129634062	129634062	C	G	LAMA2	c.3231C>G	NM_000426.4	NP_000417.3:p.(Gly1077=)	NC_000006.11:g.129634062C>G	(Likely) benign	1 lab	e1f14ee0de
5:89949365 ADGRV1 C>T	5	89949365	89949365	C	T	ADGRV1	c.3974C>T	NM_032119.4	NP_115495.3:p.(Thr1325Met)	NC_000005.9:g.89949365C>T	VUS	1 lab	e1f22e45fc
19:40322501 DYRK1B C>T	19	40322501	40322501	C	T	DYRK1B	c.7G>A	NM_004714.3	NP_004705.1:p.(Val3Ile)	NC_000019.9:g.40322501C>T	(Likely) benign	1 lab	e1f2ed6ed7
3:122001051 CASR A>G	3	122001051	122001051	A	G	CASR	c.1700A>G	NM_000388.4	NP_000379.3:p.(Glu567Gly)	NC_000003.11:g.122001051A>G	VUS	1 lab	e1f3ec27ab
2:163133945 IFIH1 AATCT>A	2	163133945	163133953	AATCT	A	IFIH1	c.2020_2023del	NM_022168.4	NP_071451.2:p.(Arg674PhefsTer3)	NC_000002.11:g.163133950_163133953del	VUS	1 lab	e1f58b7b5f
7:44189379 GCK C>T	7	44189379	44189379	C	T	GCK	c.659G>A	NM_000162.5	NP_000153.1:p.(Cys220Tyr)	NC_000007.13:g.44189379C>T	(Likely) pathogenic	1 lab	e1f5bb03ea
16:16259742 ABCC6 C>T	16	16259742	16259742	C	T	ABCC6	c.3044G>A	NM_001171.6	NP_001162.5:p.(Arg1015Gln)	NC_000016.9:g.16259742C>T	VUS	1 lab	e1f6723263
17:10432637 MYH2 ATT>A	17	10432637	10432639	ATT	A	MYH2	c.3263+14_3263+15del	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10432638_10432639del	(Likely) benign	1 lab	e1f67fdcb5
19:4511376 PLIN4 C>A	19	4511376	4511376	C	A	PLIN4	c.2596G>T	NM_001367868.2	NP_001354797.1:p.(Gly866Cys)	NC_000019.9:g.4511376C>A	VUS	1 lab	e1fa7f9161
3:119134525 ARHGAP31 A>T	3	119134525	119134525	A	T	ARHGAP31	c.3749A>T	NM_020754.4	NP_065805.2:p.(Asp1250Val)	NC_000003.11:g.119134525A>T	(Likely) benign	1 lab	e1fca0a921
14:50736050 L2HGDH T>C	14	50736050	50736050	T	C	L2HGDH	c.739-2A>G	NM_024884.3	NP_079160.1:p.?	NC_000014.8:g.50736050T>C	(Likely) pathogenic	1 lab	e1fccf9962
13:32915158 BRCA2 C>T	13	32915158	32915158	C	T	BRCA2	c.6666C>T	NM_000059.3	NP_000050.2:p.(Tyr2222=)	NC_000013.10:g.32915158C>T	(Likely) benign	1 lab	2f2b7cf851
16:90099337 DRC4 G>T	16	90099337	90099337	G	T	DRC4	c.495+5G>T	NM_001481.3	NP_001472.1:p.?	NC_000016.9:g.90099337G>T	VUS	1 lab	e200b2480d
3:142215198 ATR A>T	3	142215198	142215198	A	T	ATR	c.5898+5T>A	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142215198A>T	(Likely) benign	1 lab	e202559049
7:96635544 DLX6 GCAC>G	7	96635544	96635564	GCAC	G	DLX6	c.273_275del	NM_005222.4	NP_005213.3:p.(His91del)	NC_000007.13:g.96635562_96635564del	(Likely) benign	1 lab	e202849b81
15:91479518 UNC45A T>C	15	91479518	91479518	T	C	UNC45A	c.254T>C	NM_018671.5	NP_061141.2:p.(Ile85Thr)	NC_000015.9:g.91479518T>C	VUS	1 lab	e203792f07
19:18778829 KLHL26 C>T	19	18778829	18778829	C	T	KLHL26	c.622C>T	NM_018316.3	NP_060786.1:p.(Arg208Cys)	NC_000019.9:g.18778829C>T	VUS	1 lab	e20468a6cc
12:106890656 POLR3B A>G	12	106890656	106890656	A	G	POLR3B	c.2944A>G	NM_018082.6	NP_060552.4:p.(Asn982Asp)	NC_000012.11:g.106890656A>G	VUS	1 lab	e206c00449
12:6639102 NCAPD2 G>A	12	6639102	6639102	G	A	NCAPD2	c.3815G>A	NM_014865.4	NP_055680.3:p.(Arg1272His)	NC_000012.11:g.6639102G>A	VUS	1 lab	e20710db85
12:27628527 SMCO2 C>T	12	27628527	27628527	C	T	SMCO2	c.375C>T	NM_001395208.2	NP_001382137.1:p.(Gly125=)	NC_000012.11:g.27628527C>T	(Likely) benign	1 lab	e20780a39f
10:124266235 HTRA1 G>A	10	124266235	124266235	G	A	HTRA1	c.806G>A	NM_002775.5	NP_002766.1:p.(Arg269His)	NC_000010.10:g.124266235G>A	VUS	1 lab	e208df36f5
1:7811415 CAMTA1 G>T	1	7811415	7811415	G	T	CAMTA1	c.4846G>T	NM_015215.4	NP_056030.1:p.(Ala1616Ser)	NC_000001.10:g.7811415G>T	(Likely) benign	1 lab	e20a04bd4c
14:67389720 GPHN G>GT	14	67389720	67389724	G	GT	GPHN	c.729+69dup	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67389724dup	(Likely) benign	1 lab	2f2e2c2355
9:87636261 NTRK2 AG>A	9	87636261	87636262	AG	A	NTRK2	c.2427del	NM_006180.6	NP_006171.2:p.(Glu809AspfsTer4)	NC_000009.11:g.87636262del	(Likely) benign	1 lab	e20a80c384
7:6045585 PMS2 C>A	7	6045585	6045585	C	A	PMS2	c.101G>T	NM_000535.7	NP_000526.2:p.(Ser34Ile)	NC_000007.13:g.6045585C>A	VUS	1 lab	e21062c151
12:56480335 ERBB3 T>C	12	56480335	56480335	T	C	ERBB3	c.442T>C	NM_001982.4	NP_001973.2:p.(Tyr148His)	NC_000012.11:g.56480335T>C	VUS	1 lab	e2114f6024
22:37463009 TMPRSS6 G>A	22	37463009	37463009	G	A	TMPRSS6	c.2114-7C>T	NM_001374504.1	NP_001361433.1:p.?	NC_000022.10:g.37463009G>A	(Likely) benign	1 lab	e21463705e
3:10391815 ATP2B2 G>C	3	10391815	10391815	G	C	ATP2B2	c.2385C>G	NM_001001331.4	NP_001001331.1:p.(Asp795Glu)	NC_000003.11:g.10391815G>C	VUS	1 lab	e21468157e
8:11687938 FDFT1 G>T	8	11687938	11687938	G	T	FDFT1	c.879+9G>T	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11687938G>T	(Likely) benign	1 lab	e214dd6093
5:90111600 ADGRV1 G>A	5	90111600	90111600	G	A	ADGRV1	c.16196+47G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111600G>A	(Likely) benign	1 lab	2f2edc9920
2:238243434 COL6A3 GGTC>G	2	238243434	238243437	GGTC	G	COL6A3	c.9061_9063del	NM_004369.4	NP_004360.2:p.(Asp3021del)	NC_000002.11:g.238243435_238243437del	VUS	1 lab	e2154afbaf
1:40777772 COL9A2 G>T	1	40777772	40777772	G	T	COL9A2	c.376C>A	NM_001852.4	NP_001843.1:p.(Pro126Thr)	NC_000001.10:g.40777772G>T	VUS	1 lab	e216394891
17:17697394 RAI1 A>G	17	17697394	17697394	A	G	RAI1	c.1132A>G	NM_030665.4	NP_109590.3:p.(Ser378Gly)	NC_000017.10:g.17697394A>G	(Likely) benign	1 lab	e218edb511
2:48028046 MSH6 A>ACGTT	2	48028046	48028048	A	ACGTT	MSH6	c.2925_2926insGTTC	NM_000179.2	NP_000170.1:p.(Arg976ValfsTer9)	NC_000002.11:g.48028047_48028048insGTTC	VUS	1 lab	2f2f85df5c
1:39913737 MACF1 G>T	1	39913737	39913737	G	T	MACF1	c.20001G>T	NM_001394062.1	NP_001380991.1:p.(Trp6667Cys)	NC_000001.10:g.39913737G>T	VUS	1 lab	e21a854a8d
4:1801011 FGFR3 A>G	4	1801011	1801011	A	G	FGFR3	c.140A>G	NM_000142.5	NP_000133.1:p.(Glu47Gly)	NC_000004.11:g.1801011A>G	VUS	1 lab	e22492b997
13:111138200 COL4A2 T>C	13	111138200	111138200	T	C	COL4A2	c.3207+17T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111138200T>C	(Likely) benign	1 lab	e21c29d4fa
12:121880447 KDM2B CCTT>C	12	121880447	121880458	CCTT	C	KDM2B	c.2794_2796del	NM_032590.5	NP_115979.3:p.(Lys932del)	NC_000012.11:g.121880456_121880458del	(Likely) benign	1 lab	e21d79e585
9:35792545 NPR2 C>G	9	35792545	35792545	C	G	NPR2	c.140C>G	NM_003995.4	NP_003986.2:p.(Pro47Arg)	NC_000009.11:g.35792545C>G	VUS	1 lab	e220535639
9:135939829 CEL C>T	9	135939829	135939829	C	T	CEL	c.105C>T	NM_001807.6	NP_001798.3:p.(Gly35=)	NC_000009.11:g.135939829C>T	(Likely) benign	1 lab	e2218c5914
18:19751669 GATA6 C>T	18	19751669	19751669	C	T	GATA6	c.564C>T	NM_005257.6	NP_005248.2:p.(Tyr188=)	NC_000018.9:g.19751669C>T	(Likely) benign	1 lab	e221ce68fe
19:47424817 ARHGAP35 G>C	19	47424817	47424817	G	C	ARHGAP35	c.2885G>C	NM_004491.5	NP_004482.4:p.(Ser962Thr)	NC_000019.9:g.47424817G>C	(Likely) benign	1 lab	e2231df72e
X:106171696 CLDN2 G>T	X	106171696	106171696	G	T	CLDN2	c.238G>T	NM_020384.4	NP_065117.1:p.(Ala80Ser)	NC_000023.10:g.106171696G>T	(Likely) benign	1 lab	e2234fa172
16:2106179 TSC2 G>C	16	2106179	2106179	G	C	TSC2	c.600-18G>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2106179G>C	(Likely) benign	1 lab	e223b1909a
1:11298057 MTOR T>C	1	11298057	11298057	T	C	MTOR	c.2051A>G	NM_004958.4	NP_004949.1:p.(Asp684Gly)	NC_000001.10:g.11298057T>C	VUS	1 lab	2ce00c1c07
11:76916643 MYO7A C>T	11	76916643	76916643	C	T	MYO7A	c.5617C>T	NM_000260.4	NP_000251.3:p.(Arg1873Trp)	NC_000011.9:g.76916643C>T	(Likely) pathogenic	1 lab	e224633611
8:11566208 GATA4 T>A	8	11566208	11566208	T	A	GATA4	c.387T>A	NM_001308093.3	NP_001295022.1:p.(Ala129=)	NC_000008.10:g.11566208T>A	(Likely) benign	1 lab	e2260425ba
19:11105597 SMARCA4 G>A	19	11105597	11105597	G	A	SMARCA4	c.1513G>A	NM_003072.5	NP_003063.2:p.(Ala505Thr)	NC_000019.9:g.11105597G>A	VUS	1 lab	e226352e5d
17:60600487 TLK2 A>G	17	60600487	60600487	A	G	TLK2	c.224-8A>G	NM_006852.6	NP_006843.2:p.?	NC_000017.10:g.60600487A>G	(Likely) benign	1 lab	e226f0cff4
3:142234250 ATR T>C	3	142234250	142234250	T	C	ATR	c.4490A>G	NM_001184.4	NP_001175.2:p.(Tyr1497Cys)	NC_000003.11:g.142234250T>C	VUS	1 lab	e228efa188
X:129801496 ENOX2 C>A	X	129801496	129801496	C	A	ENOX2	c.907+8G>T	NM_006375.4	NP_006366.2:p.?	NC_000023.10:g.129801496C>A	(Likely) benign	1 lab	e229cfad51
1:153659118 NPR1 G>A	1	153659118	153659118	G	A	NPR1	c.1759-4G>A	NM_000906.4	NP_000897.3:p.?	NC_000001.10:g.153659118G>A	(Likely) benign	1 lab	e229eed271
19:11285181 KANK2 T>C	19	11285181	11285181	T	C	KANK2	c.2036A>G	NM_001136191.3	NP_001129663.1:p.(Asn679Ser)	NC_000019.9:g.11285181T>C	VUS	1 lab	e22ad40cfc
7:42007525 GLI3 T>C	7	42007525	42007525	T	C	GLI3	c.2104-4A>G	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42007525T>C	(Likely) benign	1 lab	e22d0cf24e
1:22159784 HSPG2 G>A	1	22159784	22159784	G	A	HSPG2	c.11072C>T	NM_005529.7	NP_005520.4:p.(Thr3691Ile)	NC_000001.10:g.22159784G>A	(Likely) benign	1 lab	e22e0088a3
X:75004094 MAGEE2 C>T	X	75004094	75004094	C	T	MAGEE2	c.793G>A	NM_138703.5	NP_619648.1:p.(Glu265Lys)	NC_000023.10:g.75004094C>T	(Likely) benign	1 lab	e2301fe8ef
14:35231305 BAZ1A T>A	14	35231305	35231305	T	A	BAZ1A	c.3901A>T	NM_013448.3	NP_038476.2:p.(Ser1301Cys)	NC_000014.8:g.35231305T>A	(Likely) benign	1 lab	e230ab5eea
X:130409212 IGSF1 G>A	X	130409212	130409212	G	A	IGSF1	c.3233C>T	NM_001555.5	NP_001546.2:p.(Ala1078Val)	NC_000023.10:g.130409212G>A	VUS	1 lab	e23118c39d
3:195959364 SLC51A G>T	3	195959364	195959364	G	T	SLC51A	c.855G>T	NM_152672.6	NP_689885.4:p.(Ser285=)	NC_000003.11:g.195959364G>T	VUS	1 lab	e23229564e
17:71202955 COG1 A>C	17	71202955	71202955	A	C	COG1	c.2728A>C	NM_018714.3	NP_061184.1:p.(Arg910=)	NC_000017.10:g.71202955A>C	VUS	1 lab	e2331cc786
5:74414046 ANKRD31 G>T	5	74414046	74414046	G	T	ANKRD31	c.3953C>A	NM_001372053.1	NP_001358982.1:p.(Ala1318Glu)	NC_000005.9:g.74414046G>T	VUS	1 lab	e23431d829
7:123267225 ASB15 TG>T	7	123267225	123267227	TG	T	ASB15	c.761del	NM_001290258.2	NP_001277187.1:p.(Gly254AlafsTer39)	NC_000007.13:g.123267227del	VUS	1 lab	e237781ec7
17:39596502 KRT38 A>C	17	39596502	39596502	A	C	KRT38	c.493-7T>G	NM_006771.4	NP_006762.3:p.?	NC_000017.10:g.39596502A>C	(Likely) benign	1 lab	e237a7cd19
7:143792647 OR2A12 A>G	7	143792647	143792647	A	G	OR2A12	c.447A>G	NM_001004135.2	NP_001004135.1:p.(Ile149Met)	NC_000007.13:g.143792647A>G	(Likely) benign	1 lab	e2384fbc55
7:128490536 FLNC A>C	7	128490536	128490536	A	C	FLNC	c.5397A>C	NM_001458.5	NP_001449.3:p.(Thr1799=)	NC_000007.13:g.128490536A>C	(Likely) benign	1 lab	e238b1d105
17:44632729 LRRC37A2 C>T	17	44632729	44632729	C	T	LRRC37A2	c.4993C>T	NM_001006607.3	NP_001006608.2:p.(His1665Tyr)	NC_000017.10:g.44632729C>T	VUS	1 lab	e23a50339c
14:37145584 PAX9 C>T	14	37145584	37145584	C	T	PAX9	c.953C>T	NM_001372076.1	NP_001359005.1:p.(Pro318Leu)	NC_000014.8:g.37145584C>T	VUS	1 lab	e23d83860f
1:75708671 SLC44A5 T>G	1	75708671	75708671	T	G	SLC44A5	c.371A>C	NM_001130058.2	NP_001123530.1:p.(Lys124Thr)	NC_000001.10:g.75708671T>G	VUS	1 lab	e23ddbcba1
9:84606085 SPATA31D1 C>T	9	84606085	84606085	C	T	SPATA31D1	c.700C>T	NM_001001670.3	NP_001001670.1:p.(Pro234Ser)	NC_000009.11:g.84606085C>T	(Likely) benign	1 lab	e23fdfab79
10:13698866 FRMD4A G>A	10	13698866	13698866	G	A	FRMD4A	c.2723C>T	NM_018027.5	NP_060497.3:p.(Ser908Leu)	NC_000010.10:g.13698866G>A	VUS	1 lab	e241c939d9
16:89346270 ANKRD11 G>A	16	89346270	89346270	G	A	ANKRD11	c.6680C>T	NM_013275.6	NP_037407.4:p.(Pro2227Leu)	NC_000016.9:g.89346270G>A	VUS	1 lab	e2427ea634
8:17478582 PDGFRL G>A	8	17478582	17478582	G	A	PDGFRL	c.376G>A	NM_001372073.1	NP_001359002.1:p.(Gly126Ser)	NC_000008.10:g.17478582G>A	VUS	1 lab	e2429ec67a
14:35497291 SRP54 C>T	14	35497291	35497291	C	T	SRP54	c.1328-3C>T	NM_003136.4	NP_003127.1:p.?	NC_000014.8:g.35497291C>T	(Likely) benign	1 lab	e2464e364f
11:103060427 DYNC2H1 C>T	11	103060427	103060427	C	T	DYNC2H1	c.7319C>T	NM_001377.3	NP_001368.2:p.(Thr2440Met)	NC_000011.9:g.103060427C>T	(Likely) benign	1 lab	e24751140f
21:47777009 PCNT C>A	21	47777009	47777009	C	A	PCNT	c.2057C>A	NM_006031.6	NP_006022.3:p.(Thr686Asn)	NC_000021.8:g.47777009C>A	VUS	1 lab	e2485d5af7
16:89347597 ANKRD11 T>C	16	89347597	89347597	T	C	ANKRD11	c.5353A>G	NM_013275.6	NP_037407.4:p.(Thr1785Ala)	NC_000016.9:g.89347597T>C	(Likely) benign	1 lab	e248919302
14:74004523 ACOT1 G>C	14	74004523	74004523	G	C	ACOT1	c.398G>C	NM_001037161.2	NP_001032238.1:p.(Gly133Ala)	NC_000014.8:g.74004523G>C	VUS	1 lab	e24a9f2b6d
21:46924413 COL18A1 GCCCGGCCCC>G	21	46924413	46924433	GCCCGGCCCC	G	COL18A1	c.2823_2831del	NM_001379500.1	NP_001366429.1:p.(Pro947_Pro949del)	NC_000021.8:g.46924425_46924433del	(Likely) benign	1 lab	2ce1449742
11:124743986 ROBO3 G>T	11	124743986	124743986	G	T	ROBO3	c.1805G>T	NM_022370.4	NP_071765.2:p.(Trp602Leu)	NC_000011.9:g.124743986G>T	VUS	1 lab	e24b87106a
X:54784304 ITIH6 T>C	X	54784304	54784304	T	C	ITIH6	c.2203A>G	NM_198510.3	NP_940912.1:p.(Thr735Ala)	NC_000023.10:g.54784304T>C	(Likely) benign	1 lab	e24c52e5cc
16:70894781 HYDIN T>C	16	70894781	70894781	T	C	HYDIN	c.11801A>G	NM_001270974.2	NP_001257903.1:p.(Glu3934Gly)	NC_000016.9:g.70894781T>C	(Likely) benign	1 lab	e24d6f2273
16:81927416 PLCG2 T>C	16	81927416	81927416	T	C	PLCG2	c.1072+17T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81927416T>C	(Likely) benign	1 lab	2f3e6053e3
2:69664552 NFU1 C>T	2	69664552	69664552	C	T	NFU1	c.3G>A	NM_001002755.4	NP_001002755.1:p.(Met1?)	NC_000002.11:g.69664552C>T	VUS	1 lab	e24e6c6b89
7:15405189 AGMO G>A	7	15405189	15405189	G	A	AGMO	c.1213C>T	NM_001004320.2	NP_001004320.1:p.(Arg405Ter)	NC_000007.13:g.15405189G>A	VUS	1 lab	e24ed0575f
11:46898125 LRP4 G>A	11	46898125	46898125	G	A	LRP4	c.3428C>T	NM_002334.4	NP_002325.2:p.(Thr1143Met)	NC_000011.9:g.46898125G>A	VUS	1 lab	e24fbd175e
16:89258305 CDH15 G>A	16	89258305	89258305	G	A	CDH15	c.1615+3G>A	NM_004933.3	NP_004924.1:p.?	NC_000016.9:g.89258305G>A	(Likely) benign	1 lab	e25095d668
11:14515886 COPB1 C>T	11	14515886	14515886	C	T	COPB1	c.191G>A	NM_001144061.2	NP_001137533.1:p.(Arg64His)	NC_000011.9:g.14515886C>T	VUS	1 lab	e251183bf7
3:12626149 RAF1 G>T	3	12626149	12626149	G	T	RAF1	c.1811C>A	NM_002880.4	NP_002871.1:p.(Ser604Tyr)	NC_000003.11:g.12626149G>T	VUS	1 lab	e254421708
X:55051224 ALAS2 G>T	X	55051224	55051224	G	T	ALAS2	c.231C>A	NM_000032.5	NP_000023.2:p.(Leu77=)	NC_000023.10:g.55051224G>T	(Likely) benign	1 lab	e254510e2f
9:35799690 NPR2 G>T	9	35799690	35799690	G	T	NPR2	c.949G>T	NM_003995.4	NP_003986.2:p.(Ala317Ser)	NC_000009.11:g.35799690G>T	VUS	1 lab	e25509ff53
3:129239080 IFT122 G>A	3	129239080	129239080	G	A	IFT122	c.3698G>A	NM_052989.3	NP_443715.1:p.(Arg1233His)	NC_000003.11:g.129239080G>A	VUS	1 lab	e2555c2533
5:14712974 ANKH C>T	5	14712974	14712974	C	T	ANKH	c.1365+9G>A	NM_054027.6	NP_473368.1:p.?	NC_000005.9:g.14712974C>T	(Likely) benign	1 lab	e255b92e78
1:15792632 CELA2A G>C	1	15792632	15792632	G	C	CELA2A	c.632G>C	NM_033440.3	NP_254275.1:p.(Ser211Thr)	NC_000001.10:g.15792632G>C	(Likely) benign	1 lab	e2578f90f3
14:39545272 SEC23A C>T	14	39545272	39545272	C	T	SEC23A	c.854G>A	NM_006364.4	NP_006355.2:p.(Arg285His)	NC_000014.8:g.39545272C>T	VUS	1 lab	e257bc7ebf
9:133266617 HMCN2 G>A	9	133266617	133266617	G	A	HMCN2	c.9694G>A	NM_001291815.2	NP_001278744.1:p.(Val3232Met)	NC_000009.11:g.133266617G>A	(Likely) benign	1 lab	e2590886e8
14:63174483 KCNH5 G>A	14	63174483	63174483	G	A	KCNH5	c.2710C>T	NM_139318.5	NP_647479.2:p.(Gln904Ter)	NC_000014.8:g.63174483G>A	VUS	1 lab	e2597d66e5
1:22154568 HSPG2 G>A	1	22154568	22154568	G	A	HSPG2	c.12487C>T	NM_005529.7	NP_005520.4:p.(Arg4163Cys)	NC_000001.10:g.22154568G>A	(Likely) benign	1 lab	e25bffdb96
4:183673030 TENM3 G>A	4	183673030	183673030	G	A	TENM3	c.3707G>A	NM_001080477.4	NP_001073946.1:p.(Arg1236His)	NC_000004.11:g.183673030G>A	VUS	1 lab	e25c9696c7
11:45967432 PHF21A G>A	11	45967432	45967432	G	A	PHF21A	c.1411C>T	NM_001352027.3	NP_001338956.1:p.(Pro471Ser)	NC_000011.9:g.45967432G>A	(Likely) benign	1 lab	e25d3c2d18
19:39950599 SUPT5H C>T	19	39950599	39950599	C	T	SUPT5H	c.623C>T	NM_001111020.3	NP_001104490.1:p.(Thr208Met)	NC_000019.9:g.39950599C>T	VUS	1 lab	e25dd0e772
11:31814917 PAX6 C>T	11	31814917	31814917	C	T	PAX6	c.1074+69G>A	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31814917C>T	(Likely) benign	1 lab	e25e0ead6d
2:232079625 ARMC9 C>T	2	232079625	232079625	C	T	ARMC9	c.259C>T	NM_025139.6	NP_079415.4:p.(Arg87Ter)	NC_000002.11:g.232079625C>T	(Likely) pathogenic	1 lab	2f4b371a49
X:8138641 VCX2 G>T	X	8138641	8138641	G	T	VCX2	c.44C>A	NM_016378.3	NP_057462.2:p.(Thr15Lys)	NC_000023.10:g.8138641G>T	(Likely) benign	1 lab	e26357ecfa
16:28993852 SPNS1 A>G	16	28993852	28993852	A	G	SPNS1	c.1141A>G	NM_032038.3	NP_114427.1:p.(Ile381Val)	NC_000016.9:g.28993852A>G	(Likely) benign	1 lab	e266360c18
15:28957447 GOLGA8M T>C	15	28957447	28957447	T	C	GOLGA8M	c.23A>G	NM_001282468.3	NP_001269397.1:p.(Asn8Ser)	NC_000015.9:g.28957447T>C	VUS	1 lab	e2665ce915
4:104079590 CENPE C>T	4	104079590	104079590	C	T	CENPE	c.2900G>A	NM_001813.3	NP_001804.2:p.(Arg967Gln)	NC_000004.11:g.104079590C>T	(Likely) benign	1 lab	e266a70221
2:20205557 MATN3 C>A	2	20205557	20205557	C	A	MATN3	c.738G>T	NM_002381.5	NP_002372.1:p.(Glu246Asp)	NC_000002.11:g.20205557C>A	VUS	1 lab	e268dc1331
1:3350056 PRDM16 T>C	1	3350056	3350056	T	C	PRDM16	c.3697-185T>C	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350056T>C	(Likely) benign	1 lab	e2694ff1b5
10:73121851 SLC29A3 C>T	10	73121851	73121851	C	T	SLC29A3	c.914C>T	NM_018344.6	NP_060814.4:p.(Thr305Met)	NC_000010.10:g.73121851C>T	VUS	1 lab	e269acdbb7
5:147498093 SPINK5 TACA>T	5	147498093	147498100	TACA	T	SPINK5	c.2211_2213del	NM_006846.4	NP_006837.2:p.(Asn738del)	NC_000005.9:g.147498098_147498100del	VUS	1 lab	e26d7494db
4:152054247 SH3D19 A>C	4	152054247	152054247	A	C	SH3D19	c.2628T>G	NM_001378122.1	NP_001365051.1:p.(Ile876Met)	NC_000004.11:g.152054247A>C	VUS	1 lab	e26ef5fa4a
14:95236130 GSC C>G	14	95236130	95236130	C	G	GSC	c.223G>C	NM_173849.3	NP_776248.1:p.(Gly75Arg)	NC_000014.8:g.95236130C>G	VUS	1 lab	e37f59fe42
17:1629659 WDR81 C>T	17	1629659	1629659	C	T	WDR81	c.1406C>T	NM_001163809.2	NP_001157281.1:p.(Ala469Val)	NC_000017.10:g.1629659C>T	VUS	1 lab	e270863e4b
2:152487347 NEB T>C	2	152487347	152487347	T	C	NEB	c.9619-14A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152487347T>C	(Likely) benign	1 lab	e27090d255
19:51512505 KLK9 C>T	19	51512505	51512505	C	T	KLK9	c.134G>A	NM_012315.2	NP_036447.1:p.(Arg45Gln)	NC_000019.9:g.51512505C>T	VUS	1 lab	e2709fac84
17:62020176 SCN4A C>A	17	62020176	62020176	C	A	SCN4A	c.4288+10G>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62020176C>A	(Likely) benign	1 lab	e27131a872
1:55680540 USP24 G>GGCC	1	55680540	55680556	G	GGCC	USP24	c.244_246dup	NM_015306.3	NP_056121.2:p.(Gly82dup)	NC_000001.10:g.55680554_55680556dup	(Likely) benign	1 lab	e271d1395d
2:179422153 TTN C>G	2	179422153	179422153	C	G	TTN	c.87836G>C	NM_001267550.2	NP_001254479.2:p.(Arg29279Thr)	NC_000002.11:g.179422153C>G	VUS	1 lab	e27717a27a
19:58945948 ZNF132 T>A	19	58945948	58945948	T	A	ZNF132	c.863A>T	NM_003433.4	NP_003424.3:p.(Glu288Val)	NC_000019.9:g.58945948T>A	VUS	1 lab	e27782fb48
19:3938692 NMRK2 C>T	19	3938692	3938692	C	T	NMRK2	c.258C>T	NM_170678.3	NP_733778.1:p.(Ser86=)	NC_000019.9:g.3938692C>T	(Likely) benign	1 lab	e277e68a1f
2:86352144 PTCD3 T>A	2	86352144	86352144	T	A	PTCD3	c.743T>A	NM_017952.6	NP_060422.4:p.(Phe248Tyr)	NC_000002.11:g.86352144T>A	VUS	1 lab	e278d33fda
12:2298719 CACNA1C C>T	12	2298719	2298719	C	T	CACNA1C	c.477+69123C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2298719C>T	(Likely) benign	1 lab	e27a281ded
10:31810237 ZEB1 C>G	10	31810237	31810237	C	G	ZEB1	c.1977C>G	NM_001174096.2	NP_001167567.1:p.(Asn659Lys)	NC_000010.10:g.31810237C>G	(Likely) benign	1 lab	e27b1da71a
3:142268341 ATR G>A	3	142268341	142268341	G	A	ATR	c.3151C>T	NM_001184.4	NP_001175.2:p.(Arg1051Cys)	NC_000003.11:g.142268341G>A	VUS	1 lab	e27cd14d07
1:234744945 IRF2BP2 A>AGCTGCTGCT	1	234744945	234744962	A	AGCTGCTGCT	IRF2BP2	c.287_295dup	NM_182972.3	NP_892017.2:p.(Gln96_Gln98dup)	NC_000001.10:g.234744954_234744962dup	VUS	1 lab	e27d73e06b
5:127483327 SLC12A2 T>G	5	127483327	127483327	T	G	SLC12A2	c.1787T>G	NM_001046.3	NP_001037.1:p.(Val596Gly)	NC_000005.9:g.127483327T>G	VUS	1 lab	e27df0f68e
X:135632974 VGLL1 A>G	X	135632974	135632974	A	G	VGLL1	c.682A>G	NM_016267.4	NP_057351.1:p.(Asn228Asp)	NC_000023.10:g.135632974A>G	(Likely) benign	1 lab	e27e66e0e2
6:24302272 DCDC2 C>T	6	24302272	24302272	C	T	DCDC2	c.349G>A	NM_016356.5	NP_057440.2:p.(Val117Ile)	NC_000006.11:g.24302272C>T	VUS	1 lab	e27e96539e
15:41226888 DLL4 C>G	15	41226888	41226888	C	G	DLL4	c.993C>G	NM_019074.4	NP_061947.1:p.(Asn331Lys)	NC_000015.9:g.41226888C>G	(Likely) benign	1 lab	e27edfe75f
20:43052757 HNF4A G>A	20	43052757	43052757	G	A	HNF4A	c.992G>A	NM_000457.5	NP_000448.3:p.(Arg331His)	NC_000020.10:g.43052757G>A	(Likely) pathogenic	1 lab	e27fd7f755
10:88451681 LDB3 G>C	10	88451681	88451681	G	C	LDB3	c.718G>C	NM_007078.3	NP_009009.1:p.(Asp240His)	NC_000010.10:g.88451681G>C	VUS	1 lab	e28b0f2c49
19:42776879 CIC C>T	19	42776879	42776879	C	T	CIC	c.944C>T	NM_001386298.1	NP_001373227.1:p.(Pro315Leu)	NC_000019.9:g.42776879C>T	(Likely) benign	1 lab	e282d088b4
3:48507959 TREX1 C>G	3	48507959	48507959	C	G	TREX1	c.-26-70C>G	NM_033629.6	NP_338599.1:p.?	NC_000003.11:g.48507959C>G	VUS	1 lab	e2834660e9
19:51169713 SHANK1 C>A	19	51169713	51169713	C	A	SHANK1	c.5504G>T	NM_016148.5	NP_057232.2:p.(Arg1835Leu)	NC_000019.9:g.51169713C>A	(Likely) benign	1 lab	e283e18d65
10:76735413 KAT6B A>G	10	76735413	76735413	A	G	KAT6B	c.1318A>G	NM_012330.4	NP_036462.2:p.(Lys440Glu)	NC_000010.10:g.76735413A>G	VUS	1 lab	e283f69db8
1:201034983 CACNA1S C>T	1	201034983	201034983	C	T	CACNA1S	c.2836G>A	NM_000069.3	NP_000060.2:p.(Gly946Ser)	NC_000001.10:g.201034983C>T	VUS	1 lab	e284177ea4
2:112625620 ANAPC1 G>A	2	112625620	112625620	G	A	ANAPC1	c.665C>T	NM_022662.4	NP_073153.1:p.(Pro222Leu)	NC_000002.11:g.112625620G>A	VUS	1 lab	e285b1fe40
17:72738395 RAB37 C>T	17	72738395	72738395	C	T	RAB37	c.207C>T	NM_001006638.3	NP_001006639.1:p.(Asn69=)	NC_000017.10:g.72738395C>T	VUS	1 lab	e285def597
11:124763802 ROBO4 G>A	11	124763802	124763802	G	A	ROBO4	c.1458C>T	NM_019055.6	NP_061928.4:p.(Ala486=)	NC_000011.9:g.124763802G>A	(Likely) benign	1 lab	2f4b5ab1a3
2:29296908 PCARE G>C	2	29296908	29296908	G	C	PCARE	c.220C>G	NM_001029883.3	NP_001025054.1:p.(Leu74Val)	NC_000002.11:g.29296908G>C	(Likely) benign	1 lab	e28695699c
17:80400164 HEXD G>A	17	80400164	80400164	G	A	HEXD	c.1365G>A	NM_001330542.2	NP_001317471.1:p.(Leu455=)	NC_000017.10:g.80400164G>A	VUS	1 lab	e287477754
11:71948794 INPPL1 C>A	11	71948794	71948794	C	A	INPPL1	c.3506C>A	NM_001567.4	NP_001558.3:p.(Pro1169His)	NC_000011.9:g.71948794C>A	VUS	1 lab	e287585c3d
7:154570774 DPP6 C>CCA	7	154570774	154570776	C	CCA	DPP6	c.1136+6123_1136+6124dup	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154570775_154570776dup	(Likely) benign	1 lab	e2875c4a1d
3:38888220 SCN11A A>T	3	38888220	38888220	A	T	SCN11A	c.5341T>A	NM_001349253.2	NP_001336182.1:p.(Phe1781Ile)	NC_000003.11:g.38888220A>T	(Likely) benign	1 lab	e287cc2e09
16:49671213 ZNF423 C>T	16	49671213	49671213	C	T	ZNF423	c.1874G>A	NM_001379286.1	NP_001366215.1:p.(Arg625Gln)	NC_000016.9:g.49671213C>T	(Likely) benign	1 lab	e288657972
5:77461428 AP3B1 A>C	5	77461428	77461428	A	C	AP3B1	c.1230+6T>G	NM_003664.5	NP_003655.3:p.?	NC_000005.9:g.77461428A>C	(Likely) benign	1 lab	e288896ab5
10:135093287 TUBGCP2 C>T	10	135093287	135093287	C	T	TUBGCP2	c.2692G>A	NM_006659.4	NP_006650.1:p.(Ala898Thr)	NC_000010.10:g.135093287C>T	(Likely) benign	1 lab	e28a73d8cb
19:31769743 TSHZ3 G>A	19	31769743	31769743	G	A	TSHZ3	c.956C>T	NM_020856.4	NP_065907.2:p.(Ala319Val)	NC_000019.9:g.31769743G>A	VUS	1 lab	e28b17be2b
15:91304441 BLM C>T	15	91304441	91304441	C	T	BLM	c.1838C>T	NM_000057.4	NP_000048.1:p.(Thr613Ile)	NC_000015.9:g.91304441C>T	VUS	1 lab	e28b37951c
11:76751014 B3GNT6 G>T	11	76751014	76751014	G	T	B3GNT6	c.419G>T	NM_138706.5	NP_619651.3:p.(Trp140Leu)	NC_000011.9:g.76751014G>T	VUS	1 lab	e28c8abed6
18:55998139 NEDD4L C>T	18	55998139	55998139	C	T	NEDD4L	c.983C>T	NM_001144967.3	NP_001138439.1:p.(Ser328Phe)	NC_000018.9:g.55998139C>T	VUS	1 lab	e28cdb3cbc
11:62297907 AHNAK C>T	11	62297907	62297907	C	T	AHNAK	c.3982G>A	NM_001620.3	NP_001611.1:p.(Val1328Met)	NC_000011.9:g.62297907C>T	VUS	1 lab	e28d52e1f3
11:75439894 MOGAT2 A>G	11	75439894	75439894	A	G	MOGAT2	c.710A>G	NM_025098.4	NP_079374.2:p.(Asn237Ser)	NC_000011.9:g.75439894A>G	(Likely) benign	1 lab	e28d9435f8
9:109736420 ZNF462 C>T	9	109736420	109736420	C	T	ZNF462	c.6698C>T	NM_021224.6	NP_067047.4:p.(Ser2233Phe)	NC_000009.11:g.109736420C>T	VUS	1 lab	e28ddbed9e
15:76577975 ETFA TAC>T	15	76577975	76577977	TAC	T	ETFA	c.664+1_664+2del	NM_000126.4	NP_000117.1:p.?	NC_000015.9:g.76577976_76577977del	(Likely) pathogenic	1 lab	e28f972525
7:1515988 INTS1 G>A	7	1515988	1515988	G	A	INTS1	c.5255C>T	NM_001080453.3	NP_001073922.2:p.(Thr1752Ile)	NC_000007.13:g.1515988G>A	(Likely) benign	1 lab	e2906daaa9
7:70254972 AUTS2 C>G	7	70254972	70254972	C	G	AUTS2	c.2770C>G	NM_015570.4	NP_056385.1:p.(His924Asp)	NC_000007.13:g.70254972C>G	VUS	1 lab	e290946f4f
16:2156214 PKD1 GAC>G	16	2156214	2156219	GAC	G	PKD1	c.7579_7580del	NM_001009944.3	NP_001009944.3:p.(Val2527LeufsTer67)	NC_000016.9:g.2156218_2156219del	(Likely) pathogenic	1 lab	e2909a8418
1:6172344 CHD5 G>A	1	6172344	6172344	G	A	CHD5	c.5003-7C>T	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6172344G>A	(Likely) benign	1 lab	e2911a3a71
17:37762064 NEUROD2 G>T	17	37762064	37762064	G	T	NEUROD2	c.789C>A	NM_006160.4	NP_006151.3:p.(His263Gln)	NC_000017.10:g.37762064G>T	(Likely) benign	1 lab	e29357bb72
19:42841238 MEGF8 G>A	19	42841238	42841238	G	A	MEGF8	c.1393G>A	NM_001271938.2	NP_001258867.1:p.(Gly465Ser)	NC_000019.9:g.42841238G>A	VUS	1 lab	e2951643c7
11:2905376 CDKN1C A>T	11	2905376	2905376	A	T	CDKN1C	c.788-12T>A	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2905376A>T	VUS	1 lab	e296b2fb60
10:97453207 TCTN3 T>G	10	97453207	97453207	T	G	TCTN3	c.283A>C	NM_015631.6	NP_056446.4:p.(Thr95Pro)	NC_000010.10:g.97453207T>G	VUS	1 lab	e2987d980b
19:41035017 SPTBN4 C>G	19	41035017	41035017	C	G	SPTBN4	c.3927C>G	NM_020971.3	NP_066022.2:p.(His1309Gln)	NC_000019.9:g.41035017C>G	(Likely) benign	1 lab	e29b35c49b
8:124121796 TBC1D31 G>A	8	124121796	124121796	G	A	TBC1D31	c.1372G>A	NM_145647.4	NP_663622.2:p.(Ala458Thr)	NC_000008.10:g.124121796G>A	(Likely) benign	1 lab	e29ebb5fb6
20:5935303 MCM8 A>C	20	5935303	5935303	A	C	MCM8	c.303A>C	NM_032485.6	NP_115874.3:p.(Lys101Asn)	NC_000020.10:g.5935303A>C	(Likely) benign	1 lab	e29ebe20e8
2:24929436 NCOA1 G>A	2	24929436	24929436	G	A	NCOA1	c.1098-1G>A	NM_003743.5	NP_003734.3:p.?	NC_000002.11:g.24929436G>A	VUS	1 lab	e29f1a5cf1
10:89475553 PAPSS2 G>A	10	89475553	89475553	G	A	PAPSS2	c.818G>A	NM_001015880.2	NP_001015880.1:p.(Arg273Gln)	NC_000010.10:g.89475553G>A	VUS	1 lab	e2a1044c60
14:21869579 CHD8 C>G	14	21869579	21869579	C	G	CHD8	c.4156G>C	NM_001170629.2	NP_001164100.1:p.(Asp1386His)	NC_000014.8:g.21869579C>G	VUS	1 lab	e2a1d75035
7:107572734 LAMB1 C>G	7	107572734	107572734	C	G	LAMB1	c.4277G>C	NM_002291.3	NP_002282.2:p.(Gly1426Ala)	NC_000007.13:g.107572734C>G	VUS	1 lab	e2a20a7449
13:73649933 KLF5 C>T	13	73649933	73649933	C	T	KLF5	c.1283C>T	NM_001730.5	NP_001721.2:p.(Thr428Ile)	NC_000013.10:g.73649933C>T	VUS	1 lab	e2a309ed97
1:38048473 GNL2 G>C	1	38048473	38048473	G	C	GNL2	c.701C>G	NM_013285.3	NP_037417.1:p.(Ser234Cys)	NC_000001.10:g.38048473G>C	(Likely) benign	1 lab	e2a33e00c9
7:98602969 TRRAP C>A	7	98602969	98602969	C	A	TRRAP	c.10751C>A	NM_001375524.1	NP_001362453.1:p.(Thr3584Lys)	NC_000007.13:g.98602969C>A	(Likely) benign	1 lab	e2a3db64f7
X:140969250 MAGEC3 C>T	X	140969250	140969250	C	T	MAGEC3	c.577C>T	NM_138702.1	NP_619647.1:p.(Gln193Ter)	NC_000023.10:g.140969250C>T	(Likely) benign	1 lab	e2a7022f73
16:89349543 ANKRD11 T>G	16	89349543	89349543	T	G	ANKRD11	c.3407A>C	NM_013275.6	NP_037407.4:p.(Lys1136Thr)	NC_000016.9:g.89349543T>G	(Likely) benign	1 lab	e2a771dd35
17:45387560 ITGB3 G>A	17	45387560	45387560	G	A	ITGB3	c.2357G>A	NM_000212.3	NP_000203.2:p.(Arg786Gln)	NC_000017.10:g.45387560G>A	VUS	1 lab	e2a888f716
1:181767563 CACNA1E G>A	1	181767563	181767563	G	A	CACNA1E	c.6535G>A	NM_001205293.3	NP_001192222.1:p.(Ala2179Thr)	NC_000001.10:g.181767563G>A	(Likely) benign	1 lab	e2abc96486
1:93300465 RPL5 C>T	1	93300465	93300465	C	T	RPL5	c.319C>T	NM_000969.5	NP_000960.2:p.(Arg107Cys)	NC_000001.10:g.93300465C>T	VUS	1 lab	e2f1ec1510
14:89300033 TTC8 C>G	14	89300033	89300033	C	G	TTC8	c.115-4C>G	NM_144596.4	NP_653197.2:p.?	NC_000014.8:g.89300033C>G	(Likely) benign	1 lab	e2ad544579
1:21894694 ALPL G>C	1	21894694	21894694	G	C	ALPL	c.746G>C	NM_000478.6	NP_000469.3:p.(Gly249Ala)	NC_000001.10:g.21894694G>C	VUS	1 lab	e2adac7815
11:71146645 DHCR7 C>T	11	71146645	71146645	C	T	DHCR7	c.1204G>A	NM_001360.3	NP_001351.2:p.(Val402Met)	NC_000011.9:g.71146645C>T	VUS	1 lab	e2addc7027
7:23751745 STK31 A>C	7	23751745	23751745	A	C	STK31	c.78A>C	NM_031414.5	NP_113602.2:p.(Glu26Asp)	NC_000007.13:g.23751745A>C	VUS	1 lab	e2adeab975
2:242148982 ANO7 G>A	2	242148982	242148982	G	A	ANO7	c.1291G>A	NM_001370694.2	NP_001357623.1:p.(Glu431Lys)	NC_000002.11:g.242148982G>A	VUS	1 lab	e2ae74548b
3:9476572 SETD5 C>T	3	9476572	9476572	C	T	SETD5	c.388+6C>T	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9476572C>T	(Likely) benign	1 lab	e2ae79b446
4:1803329 FGFR3 G>C	4	1803329	1803329	G	C	FGFR3	c.616-18G>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803329G>C	(Likely) benign	1 lab	e2b0416266
11:108128211 ATM C>T	11	108128211	108128211	C	T	ATM	c.2254C>T	NM_000051.4	NP_000042.3:p.(Leu752=)	NC_000011.9:g.108128211C>T	(Likely) benign	1 lab	e2b2054f15
11:66460214 SPTBN2 G>A	11	66460214	66460214	G	A	SPTBN2	c.4986-3C>T	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66460214G>A	(Likely) benign	1 lab	e2b4ff9455
11:117784605 TMPRSS13 G>A	11	117784605	117784605	G	A	TMPRSS13	c.696C>T	NM_001077263.3	NP_001070731.1:p.(Asp232=)	NC_000011.9:g.117784605G>A	(Likely) benign	1 lab	e2b62f84be
8:101253116 SPAG1 TAGATGA>T	8	101253116	101253122	TAGATGA	T	SPAG1	c.2650-2_2653del	NM_003114.5	NP_003105.2:p.?	NC_000008.10:g.101253117_101253122del	(Likely) benign	1 lab	e2b690cfb2
X:37935825 SYTL5 T>C	X	37935825	37935825	T	C	SYTL5	c.560T>C	NM_138780.3	NP_620135.1:p.(Leu187Pro)	NC_000023.10:g.37935825T>C	(Likely) benign	1 lab	e2b86cf962
8:145726637 PPP1R16A A>C	8	145726637	145726637	A	C	PPP1R16A	c.1163A>C	NM_001329443.2	NP_001316372.1:p.(Asp388Ala)	NC_000008.10:g.145726637A>C	VUS	1 lab	e2ba4b6d80
4:13545860 NKX3-2 G>A	4	13545860	13545860	G	A	NKX3-2	c.179C>T	NM_001189.4	NP_001180.1:p.(Ala60Val)	NC_000004.11:g.13545860G>A	(Likely) benign	1 lab	e2ba86045f
X:71747622 HDAC8 CTT>C	X	71747622	71747642	CTT	C	HDAC8	c.438-32506_438-32505del	NM_018486.3	NP_060956.1:p.?	NC_000023.10:g.71747641_71747642del	(Likely) benign	1 lab	e2bcb204fd
17:41234578 BRCA1 C>T	17	41234578	41234578	C	T	BRCA1	c.4200G>A	NM_007294.4	NP_009225.1:p.(Met1400Ile)	NC_000017.10:g.41234578C>T	VUS	1 lab	e2bd09032f
2:73677692 ALMS1 G>C	2	73677692	73677692	G	C	ALMS1	c.4038G>C	NM_001378454.1	NP_001365383.1:p.(Gln1346His)	NC_000002.11:g.73677692G>C	(Likely) benign	1 lab	e2be26082e
X:41530666 CASK T>A	X	41530666	41530666	T	A	CASK	c.532+15A>T	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41530666T>A	(Likely) benign	1 lab	2f4d1c012c
17:33504511 UNC45B C>A	17	33504511	33504511	C	A	UNC45B	c.2140-3C>A	NM_001267052.2	NP_001253981.1:p.?	NC_000017.10:g.33504511C>A	(Likely) benign	1 lab	e2bec200d6
11:46898745 LRP4 C>A	11	46898745	46898745	C	A	LRP4	c.3277+5G>T	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46898745C>A	(Likely) benign	1 lab	e2bfb84844
15:22841079 TUBGCP5 A>C	15	22841079	22841079	A	C	TUBGCP5	c.447A>C	NM_052903.6	NP_443135.3:p.(Glu149Asp)	NC_000015.9:g.22841079A>C	VUS	1 lab	e2c1e79ef6
5:37138868 CPLANE1 A>G	5	37138868	37138868	A	G	CPLANE1	c.8746T>C	NM_001384732.1	NP_001371661.1:p.(Ser2916Pro)	NC_000005.9:g.37138868A>G	VUS	1 lab	e2c2c81f16
1:159141568 CADM3 G>T	1	159141568	159141568	G	T	CADM3	c.13G>T	NM_001127173.3	NP_001120645.1:p.(Ala5Ser)	NC_000001.10:g.159141568G>T	VUS	1 lab	e2c32ffcbd
1:39904999 MACF1 C>T	1	39904999	39904999	C	T	MACF1	c.18274C>T	NM_001394062.1	NP_001380991.1:p.(Arg6092Trp)	NC_000001.10:g.39904999C>T	(Likely) benign	1 lab	e2c33102d3
22:41521880 EP300 A>C	22	41521880	41521880	A	C	EP300	c.742A>C	NM_001429.4	NP_001420.2:p.(Asn248His)	NC_000022.10:g.41521880A>C	(Likely) benign	1 lab	e2c47ee7f1
13:111132520 COL4A2 C>G	13	111132520	111132520	C	G	COL4A2	c.2588-47C>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111132520C>G	(Likely) benign	1 lab	e2c4f34639
4:146823939 ZNF827 G>A	4	146823939	146823939	G	A	ZNF827	c.472C>T	NM_001306215.2	NP_001293144.1:p.(Pro158Ser)	NC_000004.11:g.146823939G>A	(Likely) benign	1 lab	e2c6dde197
6:32026030 TNXB C>T	6	32026030	32026030	C	T	TNXB	c.7630G>A	NM_001365276.2	NP_001352205.1:p.(Val2544Ile)	NC_000006.11:g.32026030C>T	(Likely) benign	1 lab	e2c74cb740
22:32617002 SLC5A4 C>T	22	32617002	32617002	C	T	SLC5A4	c.1673G>A	NM_014227.3	NP_055042.1:p.(Arg558His)	NC_000022.10:g.32617002C>T	(Likely) benign	1 lab	e2c84a39fa
X:129790549 ENOX2 C>T	X	129790549	129790549	C	T	ENOX2	c.1129+6G>A	NM_006375.4	NP_006366.2:p.?	NC_000023.10:g.129790549C>T	(Likely) benign	1 lab	e2c84e8556
21:34927121 SON C>T	21	34927121	34927121	C	T	SON	c.5584C>T	NM_138927.4	NP_620305.3:p.(Arg1862Cys)	NC_000021.8:g.34927121C>T	(Likely) benign	1 lab	e2c9187b81
12:120947824 COQ5 T>C	12	120947824	120947824	T	C	COQ5	c.677A>G	NM_032314.4	NP_115690.3:p.(Asp226Gly)	NC_000012.11:g.120947824T>C	VUS	1 lab	e2ca5bfc13
16:53686783 RPGRIP1L G>C	16	53686783	53686783	G	C	RPGRIP1L	c.1816C>G	NM_015272.5	NP_056087.2:p.(Leu606Val)	NC_000016.9:g.53686783G>C	VUS	1 lab	e2cb45d1da
3:111632292 PHLDB2 C>G	3	111632292	111632292	C	G	PHLDB2	c.1462C>G	NM_001134438.2	NP_001127910.1:p.(Leu488Val)	NC_000003.11:g.111632292C>G	(Likely) benign	1 lab	e2cbf95a09
8:145740393 RECQL4 G>A	8	145740393	145740393	G	A	RECQL4	c.1547C>T	NM_004260.4	NP_004251.4:p.(Ala516Val)	NC_000008.10:g.145740393G>A	VUS	1 lab	e2cc57c439
2:209113188 IDH1 C>T	2	209113188	209113188	C	T	IDH1	c.319G>A	NM_005896.4	NP_005887.2:p.(Val107Ile)	NC_000002.11:g.209113188C>T	VUS	1 lab	e2cc71555a
19:3546381 MFSD12 C>T	19	3546381	3546381	C	T	MFSD12	c.1066G>A	NM_174983.5	NP_778148.2:p.(Ala356Thr)	NC_000019.9:g.3546381C>T	VUS	1 lab	e2ccfbe6d2
4:6107497 JAKMIP1 C>A	4	6107497	6107497	C	A	JAKMIP1	c.327G>T	NM_001099433.2	NP_001092903.1:p.(Glu109Asp)	NC_000004.11:g.6107497C>A	(Likely) benign	1 lab	e2cdc75839
9:139908862 ABCA2 G>A	9	139908862	139908862	G	A	ABCA2	c.4004-6C>T	NM_001606.5	NP_001597.2:p.?	NC_000009.11:g.139908862G>A	(Likely) benign	1 lab	e2ceb6beff
4:1808985 FGFR3 C>A	4	1808985	1808985	C	A	FGFR3	c.2417C>A	NM_000142.5	NP_000133.1:p.(Thr806Lys)	NC_000004.11:g.1808985C>A	VUS	1 lab	e2d305257d
5:176562675 NSD1 G>GCCACCTGCAA	5	176562675	176562685	G	GCCACCTGCAA	NSD1	c.572_581dup	NM_022455.5	NP_071900.2:p.(Tyr195HisfsTer5)	NC_000005.9:g.176562676_176562685dup	VUS	1 lab	e2d3df38fe
1:197094328 ASPM G>A	1	197094328	197094328	G	A	ASPM	c.2937-7C>T	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197094328G>A	(Likely) benign	1 lab	e2d769a7f9
12:75601226 KCNC2 C>T	12	75601226	75601226	C	T	KCNC2	c.538G>A	NM_139137.4	NP_631875.1:p.(Gly180Ser)	NC_000012.11:g.75601226C>T	VUS	1 lab	e2d7b21cea
7:98524857 TRRAP C>T	7	98524857	98524857	C	T	TRRAP	c.3043C>T	NM_001375524.1	NP_001362453.1:p.(Arg1015Trp)	NC_000007.13:g.98524857C>T	(Likely) benign	1 lab	e2dc234aa8
1:103405955 COL11A1 A>T	1	103405955	103405955	A	T	COL11A1	c.3312T>A	NM_001854.4	NP_001845.3:p.(Asp1104Glu)	NC_000001.10:g.103405955A>T	VUS	1 lab	e2dc8299fb
4:144498795 FREM3 C>T	4	144498795	144498795	C	T	FREM3	c.6389G>A	NM_001168235.2	NP_001161707.1:p.(Cys2130Tyr)	NC_000004.11:g.144498795C>T	(Likely) benign	1 lab	e2dd2a052d
16:2522437 NTN3 AGCCACCGACCTCCAGGTGGG>A	16	2522437	2522457	AGCCACCGACCTCCAGGTGGG	A	NTN3	c.736_755del	NM_006181.3	NP_006172.1:p.(Ala246ArgfsTer32)	NC_000016.9:g.2522438_2522457del	VUS	1 lab	e2dd9e2d41
11:17414628 ABCC8 C>T	11	17414628	17414628	C	T	ABCC8	c.4656G>A	NM_000352.6	NP_000343.2:p.(Lys1552=)	NC_000011.9:g.17414628C>T	(Likely) benign	1 lab	e2e0369d87
2:54483079 TSPYL6 A>G	2	54483079	54483079	A	G	TSPYL6	c.210T>C	NM_001003937.3	NP_001003937.2:p.(Thr70=)	NC_000002.11:g.54483079A>G	(Likely) benign	1 lab	e2e04bb953
11:22272323 ANO5 G>C	11	22272323	22272323	G	C	ANO5	c.1050G>C	NM_213599.3	NP_998764.1:p.(Met350Ile)	NC_000011.9:g.22272323G>C	(Likely) benign	1 lab	e2e05a128e
1:101186093 VCAM1 C>T	1	101186093	101186093	C	T	VCAM1	c.126C>T	NM_001078.4	NP_001069.1:p.(Ser42=)	NC_000001.10:g.101186093C>T	(Likely) benign	1 lab	e2e0719a7c
8:133931726 TG T>C	8	133931726	133931726	T	C	TG	c.4484T>C	NM_003235.5	NP_003226.4:p.(Val1495Ala)	NC_000008.10:g.133931726T>C	VUS	1 lab	e2e1efbd33
2:219920362 IHH C>T	2	219920362	219920362	C	T	IHH	c.803G>A	NM_002181.4	NP_002172.2:p.(Arg268His)	NC_000002.11:g.219920362C>T	VUS	1 lab	e2e22d86ae
4:170610195 CLCN3 G>C	4	170610195	170610195	G	C	CLCN3	c.420G>C	NM_001829.4	NP_001820.2:p.(Gly140=)	NC_000004.11:g.170610195G>C	(Likely) benign	1 lab	e2e3b66720
8:21982875 HR A>T	8	21982875	21982875	A	T	HR	c.1699T>A	NM_005144.5	NP_005135.2:p.(Cys567Ser)	NC_000008.10:g.21982875A>T	(Likely) benign	1 lab	e2e464784e
11:108178611 ATM T>A	11	108178611	108178611	T	A	ATM	c.5675-13T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108178611T>A	VUS	1 lab	e2e479fa24
11:654605 DEAF1 C>T	11	654605	654605	C	T	DEAF1	c.1504-554G>A	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.654605C>T	(Likely) benign	1 lab	e2e4f7f070
6:86277280 SNX14 A>G	6	86277280	86277280	A	G	SNX14	c.433T>C	NM_153816.6	NP_722523.1:p.(Leu145=)	NC_000006.11:g.86277280A>G	(Likely) benign	1 lab	e2e50f6f8c
13:35770417 NBEA A>G	13	35770417	35770417	A	G	NBEA	c.5344A>G	NM_001385012.1	NP_001371941.1:p.(Met1782Val)	NC_000013.10:g.35770417A>G	(Likely) benign	1 lab	e2e53099bd
5:14222070 TRIO G>A	5	14222070	14222070	G	A	TRIO	c.158-48864G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14222070G>A	(Likely) benign	1 lab	e2e67c39f5
15:42132781 PLA2G4B C>T	15	42132781	42132781	C	T	PLA2G4B	c.142C>T	NM_001114633.2	NP_001108105.1:p.(Gln48Ter)	NC_000015.9:g.42132781C>T	VUS	1 lab	e2e68f96ac
3:119205688 POGLUT1 C>T	3	119205688	119205688	C	T	POGLUT1	c.647C>T	NM_152305.3	NP_689518.1:p.(Pro216Leu)	NC_000003.11:g.119205688C>T	VUS	1 lab	e2e82de523
6:118803006 CEP85L C>A	6	118803006	118803006	C	A	CEP85L	c.1681G>T	NM_001042475.3	NP_001035940.1:p.(Asp561Tyr)	NC_000006.11:g.118803006C>A	VUS	1 lab	e2e88fa86a
22:50964435 TYMP C>T	22	50964435	50964435	C	T	TYMP	c.1295G>A	NM_001953.5	NP_001944.1:p.(Arg432His)	NC_000022.10:g.50964435C>T	VUS	1 lab	e2ea062cb5
1:156844800 NTRK1 C>T	1	156844800	156844800	C	T	NTRK1	c.1354C>T	NM_002529.4	NP_002520.2:p.(Arg452Cys)	NC_000001.10:g.156844800C>T	VUS	1 lab	e2eb250427
11:108198394 ATM C>A	11	108198394	108198394	C	A	ATM	c.6998C>A	NM_000051.4	NP_000042.3:p.(Thr2333Lys)	NC_000011.9:g.108198394C>A	VUS	1 lab	e2ec4e9092
19:54396286 PRKCG C>A	19	54396286	54396286	C	A	PRKCG	c.866C>A	NM_002739.5	NP_002730.1:p.(Pro289Gln)	NC_000019.9:g.54396286C>A	(Likely) benign	1 lab	e2efcb6bfa
8:53596543 RB1CC1 G>T	8	53596543	53596543	G	T	RB1CC1	c.102C>A	NM_014781.5	NP_055596.3:p.(Ser34Arg)	NC_000008.10:g.53596543G>T	VUS	1 lab	e2f04d0ba5
2:27255954 TMEM214 CCGGCGCCGGCGGCCGAGGAGG>C	2	27255954	27255979	CCGGCGCCGGCGGCCGAGGAGG	C	TMEM214	c.76_96del	NM_017727.5	NP_060197.4:p.(Ala26_Gly32del)	NC_000002.11:g.27255959_27255979del	VUS	1 lab	e2f0b4b088
X:117727283 DOCK11 A>G	X	117727283	117727283	A	G	DOCK11	c.2246A>G	NM_144658.4	NP_653259.3:p.(Asp749Gly)	NC_000023.10:g.117727283A>G	VUS	1 lab	e2f1121f46
20:62324328 RTEL1 G>C	20	62324328	62324328	G	C	RTEL1	c.2823G>C	NM_001283009.2	NP_001269938.1:p.(Glu941Asp)	NC_000020.10:g.62324328G>C	(Likely) benign	1 lab	e2f1bbc5b4
17:11622659 DNAH9 T>G	17	11622659	11622659	T	G	DNAH9	c.5561T>G	NM_001372.4	NP_001363.2:p.(Ile1854Ser)	NC_000017.10:g.11622659T>G	VUS	1 lab	e2f2659abc
15:39885869 THBS1 G>C	15	39885869	39885869	G	C	THBS1	c.3267G>C	NM_003246.4	NP_003237.2:p.(Gln1089His)	NC_000015.9:g.39885869G>C	(Likely) benign	1 lab	e2f29c12df
5:112174138 APC G>T	5	112174138	112174138	G	T	APC	c.2847G>T	NM_000038.6	NP_000029.2:p.(Met949Ile)	NC_000005.9:g.112174138G>T	(Likely) benign	1 lab	e2f5022697
14:91780244 CCDC88C C>T	14	91780244	91780244	C	T	CCDC88C	c.1916G>A	NM_001080414.4	NP_001073883.2:p.(Arg639Gln)	NC_000014.8:g.91780244C>T	(Likely) benign	1 lab	e2f7366656
6:146755583 GRM1 C>G	6	146755583	146755583	C	G	GRM1	c.3236C>G	NM_001278064.2	NP_001264993.1:p.(Pro1079Arg)	NC_000006.11:g.146755583C>G	VUS	1 lab	e2f8cef6f7
9:35809233 NPR2 G>A	9	35809233	35809233	G	A	NPR2	c.3067G>A	NM_003995.4	NP_003986.2:p.(Val1023Met)	NC_000009.11:g.35809233G>A	VUS	1 lab	e2f9086a69
11:17153537 PIK3C2A A>C	11	17153537	17153537	A	C	PIK3C2A	c.2157T>G	NM_002645.4	NP_002636.2:p.(Asp719Glu)	NC_000011.9:g.17153537A>C	(Likely) benign	1 lab	e2f928180d
8:70512950 SULF1 C>T	8	70512950	70512950	C	T	SULF1	c.847C>T	NM_001128205.2	NP_001121677.1:p.(Leu283Phe)	NC_000008.10:g.70512950C>T	VUS	1 lab	e2f9c6b07a
2:33468831 LTBP1 C>T	2	33468831	33468831	C	T	LTBP1	c.1979C>T	NM_206943.4	NP_996826.3:p.(Pro660Leu)	NC_000002.11:g.33468831C>T	VUS	1 lab	e2fa6b1a41
18:72247447 CNDP1 C>T	18	72247447	72247447	C	T	CNDP1	c.1249C>T	NM_032649.6	NP_116038.4:p.(Pro417Ser)	NC_000018.9:g.72247447C>T	VUS	1 lab	e2fc25a1b7
19:10225103 P2RY11 G>A	19	10225103	10225103	G	A	P2RY11	c.814G>A	NM_002566.5	NP_002557.2:p.(Val272Met)	NC_000019.9:g.10225103G>A	(Likely) benign	1 lab	e2fdfb06e7
21:44479022 CBS G>A	21	44479022	44479022	G	A	CBS	c.1280C>T	NM_000071.3	NP_000062.1:p.(Pro427Leu)	NC_000021.8:g.44479022G>A	(Likely) pathogenic	1 lab	e2fecd86d1
17:78055461 CCDC40 C>T	17	78055461	78055461	C	T	CCDC40	c.1679C>T	NM_017950.4	NP_060420.2:p.(Thr560Met)	NC_000017.10:g.78055461C>T	(Likely) benign	1 lab	e2fecd8ad0
19:3492473 DOHH C>T	19	3492473	3492473	C	T	DOHH	c.376G>A	NM_001145165.2	NP_001138637.1:p.(Val126Met)	NC_000019.9:g.3492473C>T	VUS	1 lab	e2fed63f2c
2:71738969 DYSF G>A	2	71738969	71738969	G	A	DYSF	c.378G>A	NM_001130987.2	NP_001124459.1:p.(Pro126=)	NC_000002.11:g.71738969G>A	(Likely) benign	1 lab	e3001127f9
17:29314981 RNF135 A>G	17	29314981	29314981	A	G	RNF135	c.536A>G	NM_032322.4	NP_115698.3:p.(Asp179Gly)	NC_000017.10:g.29314981A>G	VUS	1 lab	e301ed2636
2:169020307 STK39 T>C	2	169020307	169020307	T	C	STK39	c.514A>G	NM_013233.3	NP_037365.2:p.(Ile172Val)	NC_000002.11:g.169020307T>C	VUS	1 lab	e302bcc9cc
2:207988818 KLF7 G>C	2	207988818	207988818	G	C	KLF7	c.413C>G	NM_003709.4	NP_003700.1:p.(Pro138Arg)	NC_000002.11:g.207988818G>C	VUS	1 lab	e302ef657c
12:93966735 SOCS2 G>A	12	93966735	93966735	G	A	SOCS2	c.62G>A	NM_001270471.2	NP_001257400.1:p.(Gly21Glu)	NC_000012.11:g.93966735G>A	VUS	1 lab	e303b6abab
10:61822962 ANK3 T>C	10	61822962	61822962	T	C	ANK3	c.12502A>G	NM_020987.5	NP_066267.2:p.(Thr4168Ala)	NC_000010.10:g.61822962T>C	(Likely) benign	1 lab	e30446a465
22:51021062 CHKB T>C	22	51021062	51021062	T	C	CHKB	c.149A>G	NM_005198.5	NP_005189.2:p.(Tyr50Cys)	NC_000022.10:g.51021062T>C	(Likely) benign	1 lab	e30471d8c0
10:89473816 PAPSS2 C>T	10	89473816	89473816	C	T	PAPSS2	c.397C>T	NM_001015880.2	NP_001015880.1:p.(Arg133Cys)	NC_000010.10:g.89473816C>T	VUS	1 lab	e304f8a9e2
15:34034602 RYR3 C>G	15	34034602	34034602	C	G	RYR3	c.7856C>G	NM_001036.6	NP_001027.3:p.(Thr2619Ser)	NC_000015.9:g.34034602C>G	(Likely) benign	1 lab	e30579a87a
X:15607586 ACE2 G>GT	X	15607586	15607597	G	GT	ACE2	c.584-8dup	NM_001371415.1	NP_001358344.1:p.?	NC_000023.10:g.15607597dup	VUS	1 lab	e30628480a
1:179100545 ABL2 T>C	1	179100545	179100545	T	C	ABL2	c.292A>G	NM_007314.4	NP_009298.1:p.(Lys98Glu)	NC_000001.10:g.179100545T>C	VUS	1 lab	e3066f7b0c
11:6653779 DCHS1 T>TACC	11	6653779	6653788	T	TACC	DCHS1	c.2961_2963dup	NM_003737.4	NP_003728.1:p.(Val988dup)	NC_000011.9:g.6653786_6653788dup	VUS	1 lab	e3097c1cdd
11:22646701 FANCF TGG>T	11	22646701	22646705	TGG	T	FANCF	c.654_655del	NM_022725.4	NP_073562.1:p.(Gln219ArgfsTer46)	NC_000011.9:g.22646704_22646705del	VUS	1 lab	e30bdff451
11:124740063 ROBO3 C>T	11	124740063	124740063	C	T	ROBO3	c.769C>T	NM_022370.4	NP_071765.2:p.(Arg257Cys)	NC_000011.9:g.124740063C>T	VUS	1 lab	e30c9f29d8
12:112915766 PTPN11 C>A	12	112915766	112915766	C	A	PTPN11	c.1039C>A	NM_002834.5	NP_002825.3:p.(Gln347Lys)	NC_000012.11:g.112915766C>A	(Likely) pathogenic	1 lab	e30ea02307
14:81609957 TSHR C>T	14	81609957	81609957	C	T	TSHR	c.1555C>T	NM_000369.5	NP_000360.2:p.(Arg519Cys)	NC_000014.8:g.81609957C>T	(Likely) pathogenic	1 lab	e30ff0f4cf
3:111319674 CD96 A>T	3	111319674	111319674	A	T	CD96	c.1000A>T	NM_005816.5	NP_005807.1:p.(Asn334Tyr)	NC_000003.11:g.111319674A>T	VUS	1 lab	e30ff53c27
17:42928655 EFTUD2 T>C	17	42928655	42928655	T	C	EFTUD2	c.2906A>G	NM_004247.4	NP_004238.3:p.(Asn969Ser)	NC_000017.10:g.42928655T>C	(Likely) benign	1 lab	e310a364c0
10:135101803 TUBGCP2 G>A	10	135101803	135101803	G	A	TUBGCP2	c.1552C>T	NM_006659.4	NP_006650.1:p.(Arg518Cys)	NC_000010.10:g.135101803G>A	VUS	1 lab	e31217f899
X:37668855 CYBB A>C	X	37668855	37668855	A	C	CYBB	c.1497A>C	NM_000397.4	NP_000388.2:p.(Lys499Asn)	NC_000023.10:g.37668855A>C	VUS	1 lab	e313b467aa
4:1807335 FGFR3 G>T	4	1807335	1807335	G	T	FGFR3	c.1584G>T	NM_000142.5	NP_000133.1:p.(Met528Ile)	NC_000004.11:g.1807335G>T	(Likely) pathogenic	1 lab	e314ee1abb
19:55666134 TNNI3 G>C	19	55666134	55666134	G	C	TNNI3	c.347C>G	NM_000363.5	NP_000354.4:p.(Ala116Gly)	NC_000019.9:g.55666134G>C	VUS	1 lab	e317ba469d
1:92764639 RPAP2 C>G	1	92764639	92764639	C	G	RPAP2	c.9C>G	NM_024813.3	NP_079089.2:p.(Asp3Glu)	NC_000001.10:g.92764639C>G	(Likely) benign	1 lab	e3185b2475
16:89345887 ANKRD11 A>T	16	89345887	89345887	A	T	ANKRD11	c.7063T>A	NM_013275.6	NP_037407.4:p.(Ser2355Thr)	NC_000016.9:g.89345887A>T	(Likely) benign	1 lab	e3185d5a41
16:85688010 GSE1 C>G	16	85688010	85688010	C	G	GSE1	c.553C>G	NM_014615.5	NP_055430.1:p.(Leu185Val)	NC_000016.9:g.85688010C>G	(Likely) benign	1 lab	e31a6aebe6
11:108121428 ATM G>T	11	108121428	108121428	G	T	ATM	c.1236G>T	NM_000051.4	NP_000042.3:p.(Trp412Cys)	NC_000011.9:g.108121428G>T	(Likely) benign	1 lab	e31c05caaa
19:13410043 CACNA1A G>T	19	13410043	13410043	G	T	CACNA1A	c.2404C>A	NM_001127222.2	NP_001120694.1:p.(Arg802Ser)	NC_000019.9:g.13410043G>T	VUS	1 lab	e31c210c6c
7:139657492 TBXAS1 G>T	7	139657492	139657492	G	T	TBXAS1	c.748G>T	NM_001061.7	NP_001052.3:p.(Glu250Ter)	NC_000007.13:g.139657492G>T	VUS	1 lab	e31ca20359
17:10533633 MYH3 T>C	17	10533633	10533633	T	C	MYH3	c.5429A>G	NM_002470.4	NP_002461.2:p.(Lys1810Arg)	NC_000017.10:g.10533633T>C	VUS	1 lab	e31ef3972e
2:239976508 HDAC4 C>T	2	239976508	239976508	C	T	HDAC4	c.3025G>A	NM_001378414.1	NP_001365343.1:p.(Val1009Ile)	NC_000002.11:g.239976508C>T	(Likely) benign	1 lab	e31f9a6b95
7:100246219 ACTL6B A>G	7	100246219	100246219	A	G	ACTL6B	c.629T>C	NM_016188.5	NP_057272.1:p.(Met210Thr)	NC_000007.13:g.100246219A>G	(Likely) benign	1 lab	e31fb02648
6:33132638 COL11A2 G>C	6	33132638	33132638	G	C	COL11A2	c.4854C>G	NM_080680.3	NP_542411.2:p.(Asp1618Glu)	NC_000006.11:g.33132638G>C	(Likely) benign	1 lab	e32084c3be
6:32629544 HLA-DQB1 G>A	6	32629544	32629544	G	A	HLA-DQB1	c.661+200C>T	NM_002123.5	NP_002114.3:p.?	NC_000006.11:g.32629544G>A	(Likely) benign	1 lab	e320f5e5b1
12:112743935 HECTD4 G>C	12	112743935	112743935	G	C	HECTD4	c.1268C>G	NM_001388303.1	NP_001375232.1:p.(Ser423Cys)	NC_000012.11:g.112743935G>C	VUS	1 lab	e320fbbd98
17:7750339 KDM6B G>T	17	7750339	7750339	G	T	KDM6B	c.909+5G>T	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7750339G>T	(Likely) benign	1 lab	e3210af04f
17:34076241 GAS2L2 G>A	17	34076241	34076241	G	A	GAS2L2	c.628-5C>T	NM_139285.4	NP_644814.1:p.?	NC_000017.10:g.34076241G>A	(Likely) benign	1 lab	e321b03795
9:140711883 EHMT1 T>A	9	140711883	140711883	T	A	EHMT1	c.3375-8T>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140711883T>A	(Likely) benign	1 lab	e32203a857
X:47464707 SYN1 C>T	X	47464707	47464707	C	T	SYN1	c.599G>A	NM_006950.3	NP_008881.2:p.(Ser200Asn)	NC_000023.10:g.47464707C>T	(Likely) benign	1 lab	2f58e25ffb
8:144998442 PLEC C>T	8	144998442	144998442	C	T	PLEC	c.5655G>A	NM_201384.3	NP_958786.1:p.(Ala1885=)	NC_000008.10:g.144998442C>T	(Likely) benign	1 lab	e32236d4a3
16:51175894 SALL1 G>T	16	51175894	51175894	G	T	SALL1	c.239C>A	NM_002968.3	NP_002959.2:p.(Ser80Tyr)	NC_000016.9:g.51175894G>T	(Likely) benign	1 lab	e322df0bc7
2:179599054 TTN C>T	2	179599054	179599054	C	T	TTN	c.15496+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179599054C>T	(Likely) pathogenic	1 lab	e32545bf62
12:79685841 SYT1 A>C	12	79685841	79685841	A	C	SYT1	c.405A>C	NM_005639.3	NP_005630.1:p.(Glu135Asp)	NC_000012.11:g.79685841A>C	VUS	1 lab	e32650d465
2:176957789 HOXD13 G>GGCGGCGGCGGCA	2	176957789	176957809	G	GGCGGCGGCGGCA	HOXD13	c.180_191dup	NM_000523.4	NP_000514.2:p.(Ala68_Ala71dup)	NC_000002.11:g.176957798_176957809dup	VUS	1 lab	e326888300
19:14263421 ADGRL1 C>T	19	14263421	14263421	C	T	ADGRL1	c.3428G>A	NM_014921.5	NP_055736.2:p.(Arg1143Gln)	NC_000019.9:g.14263421C>T	(Likely) benign	1 lab	e326aa1df7
3:49698016 BSN C>G	3	49698016	49698016	C	G	BSN	c.8738C>G	NM_003458.4	NP_003449.2:p.(Ala2913Gly)	NC_000003.11:g.49698016C>G	VUS	1 lab	e32705fda5
19:12766670 MAN2B1 G>T	19	12766670	12766670	G	T	MAN2B1	c.1668C>A	NM_000528.4	NP_000519.2:p.(Asp556Glu)	NC_000019.9:g.12766670G>T	VUS	1 lab	e32927c682
14:64542723 SYNE2 C>T	14	64542723	64542723	C	T	SYNE2	c.10927C>T	NM_182914.3	NP_878918.2:p.(Arg3643Ter)	NC_000014.8:g.64542723C>T	VUS	1 lab	e329af3687
11:124743285 ROBO3 G>A	11	124743285	124743285	G	A	ROBO3	c.1616G>A	NM_022370.4	NP_071765.2:p.(Arg539Gln)	NC_000011.9:g.124743285G>A	(Likely) benign	1 lab	e329b212a3
3:12421355 PPARG G>A	3	12421355	12421355	G	A	PPARG	c.145G>A	NM_138711.6	NP_619725.3:p.(Glu49Lys)	NC_000003.11:g.12421355G>A	VUS	1 lab	e37f89fa83
7:101506959 CUX1 ACT>A	7	101506959	101506963	ACT	A	CUX1	c.30+46013_30+46014del	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101506962_101506963del	(Likely) benign	1 lab	e32f677122
X:34148844 FAM47A G>C	X	34148844	34148844	G	C	FAM47A	c.1552C>G	NM_203408.4	NP_981953.2:p.(Arg518Gly)	NC_000023.10:g.34148844G>C	VUS	1 lab	e33014155f
9:73028276 KLF9 A>G	9	73028276	73028276	A	G	KLF9	c.4T>C	NM_001206.4	NP_001197.1:p.(Ser2Pro)	NC_000009.11:g.73028276A>G	VUS	1 lab	e330c7acc4
6:43112260 PTK7 G>A	6	43112260	43112260	G	A	PTK7	c.2323G>A	NM_002821.5	NP_002812.2:p.(Gly775Ser)	NC_000006.11:g.43112260G>A	(Likely) benign	1 lab	e331f4b9d6
X:153694408 PLXNA3 A>T	X	153694408	153694408	A	T	PLXNA3	c.2663A>T	NM_017514.5	NP_059984.3:p.(Tyr888Phe)	NC_000023.10:g.153694408A>T	VUS	1 lab	e3330ce366
5:145888700 TCERG1 A>T	5	145888700	145888700	A	T	TCERG1	c.3046-8A>T	NM_001382548.1	NP_001369477.1:p.?	NC_000005.9:g.145888700A>T	(Likely) benign	1 lab	e333dc46ee
10:119303022 EMX2 G>C	10	119303022	119303022	G	C	EMX2	c.244G>C	NM_004098.4	NP_004089.1:p.(Ala82Pro)	NC_000010.10:g.119303022G>C	VUS	1 lab	e335bbb64b
15:42109238 MAPKBP1 G>A	15	42109238	42109238	G	A	MAPKBP1	c.1711+5G>A	NM_014994.3	NP_055809.2:p.?	NC_000015.9:g.42109238G>A	VUS	1 lab	e3360c8d7d
12:3047286 TULP3 G>A	12	3047286	3047286	G	A	TULP3	c.1030G>A	NM_003324.5	NP_003315.2:p.(Asp344Asn)	NC_000012.11:g.3047286G>A	VUS	1 lab	e3386fc687
16:50340983 ADCY7 G>A	16	50340983	50340983	G	A	ADCY7	c.1775G>A	NM_001114.5	NP_001105.1:p.(Arg592Gln)	NC_000016.9:g.50340983G>A	VUS	1 lab	e3387a27fc
X:78426980 GPR174 A>T	X	78426980	78426980	A	T	GPR174	c.476A>T	NM_032553.3	NP_115942.1:p.(Asp159Val)	NC_000023.10:g.78426980A>T	VUS	1 lab	e339ab31f2
5:90059406 ADGRV1 A>C	5	90059406	90059406	A	C	ADGRV1	c.12285+120A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059406A>C	(Likely) benign	1 lab	2f5c0c0b2a
6:83884131 PGM3 C>T	6	83884131	83884131	C	T	PGM3	c.1204G>A	NM_015599.3	NP_056414.1:p.(Ala402Thr)	NC_000006.11:g.83884131C>T	VUS	1 lab	e33a204bee
16:71983854 PKD1L3 A>C	16	71983854	71983854	A	C	PKD1L3	c.3446T>G	NM_181536.2	NP_853514.1:p.(Leu1149Arg)	NC_000016.9:g.71983854A>C	VUS	1 lab	e33a43ac9b
9:13193320 MPDZ GA>G	9	13193320	13193331	GA	G	MPDZ	c.1657-9del	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13193331del	(Likely) benign	1 lab	e33a5deee1
17:78328237 RNF213 A>G	17	78328237	78328237	A	G	RNF213	c.10727-4A>G	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78328237A>G	(Likely) benign	1 lab	e33a64b6bb
2:121554980 GLI2 G>A	2	121554980	121554980	G	A	GLI2	c.84G>A	NM_001374353.1	NP_001361282.1:p.(Pro28=)	NC_000002.11:g.121554980G>A	VUS	1 lab	e33c74a97e
16:2143861 PKD1 G>T	16	2143861	2143861	G	T	PKD1	c.10772C>A	NM_001009944.3	NP_001009944.3:p.(Ser3591Tyr)	NC_000016.9:g.2143861G>T	(Likely) pathogenic	1 lab	e33f576d67
3:197024071 DLG1 G>A	3	197024071	197024071	G	A	DLG1	c.5C>T	NM_001366207.1	NP_001353136.1:p.(Pro2Leu)	NC_000003.11:g.197024071G>A	VUS	1 lab	e33f77b00e
11:17452386 ABCC8 G>A	11	17452386	17452386	G	A	ABCC8	c.1792C>T	NM_000352.6	NP_000343.2:p.(Arg598Ter)	NC_000011.9:g.17452386G>A	(Likely) pathogenic	1 lab	e341327b05
19:11314922 DOCK6 G>A	19	11314922	11314922	G	A	DOCK6	c.5174C>T	NM_020812.4	NP_065863.2:p.(Ala1725Val)	NC_000019.9:g.11314922G>A	(Likely) benign	1 lab	e344a0b5ef
15:99460015 IGF1R A>G	15	99460015	99460015	A	G	IGF1R	c.2111A>G	NM_000875.5	NP_000866.1:p.(Lys704Arg)	NC_000015.9:g.99460015A>G	VUS	1 lab	e344fec3ea
5:127627248 FBN2 G>T	5	127627248	127627248	G	T	FBN2	c.6265C>A	NM_001999.4	NP_001990.2:p.(Leu2089Ile)	NC_000005.9:g.127627248G>T	VUS	1 lab	e346573d8a
16:2155999 PKD1 G>T	16	2155999	2155999	G	T	PKD1	c.7730C>A	NM_001009944.3	NP_001009944.3:p.(Pro2577His)	NC_000016.9:g.2155999G>T	VUS	1 lab	e3466b99b5
19:15272342 NOTCH3 G>T	19	15272342	15272342	G	T	NOTCH3	c.6097C>A	NM_000435.3	NP_000426.2:p.(Pro2033Thr)	NC_000019.9:g.15272342G>T	VUS	1 lab	e349335c51
19:13395949 CACNA1A G>A	19	13395949	13395949	G	A	CACNA1A	c.3625C>T	NM_001127222.2	NP_001120694.1:p.(Arg1209Cys)	NC_000019.9:g.13395949G>A	(Likely) benign	1 lab	e34a05ed21
3:126724942 PLXNA1 C>T	3	126724942	126724942	C	T	PLXNA1	c.1918C>T	NM_032242.4	NP_115618.3:p.(Leu640Phe)	NC_000003.11:g.126724942C>T	VUS	1 lab	e34afe2459
19:11325273 DOCK6 C>T	19	11325273	11325273	C	T	DOCK6	c.4159G>A	NM_020812.4	NP_065863.2:p.(Glu1387Lys)	NC_000019.9:g.11325273C>T	VUS	1 lab	e34be156f8
6:33134580 COL11A2 T>G	6	33134580	33134580	T	G	COL11A2	c.4255A>C	NM_080680.3	NP_542411.2:p.(Ile1419Leu)	NC_000006.11:g.33134580T>G	VUS	1 lab	e34d428331
1:63894723 ALG6 T>C	1	63894723	63894723	T	C	ALG6	c.1252T>C	NM_013339.4	NP_037471.2:p.(Leu418=)	NC_000001.10:g.63894723T>C	(Likely) benign	1 lab	e34dbdd96e
9:129456098 LMX1B C>T	9	129456098	129456098	C	T	LMX1B	c.886+7C>T	NM_001174147.2	NP_001167618.1:p.?	NC_000009.11:g.129456098C>T	(Likely) benign	1 lab	e3518b1634
17:78073569 CCDC40 T>C	17	78073569	78073569	T	C	CCDC40	c.3424T>C	NM_017950.4	NP_060420.2:p.(Ser1142Pro)	NC_000017.10:g.78073569T>C	(Likely) benign	1 lab	e35248f327
17:36887055 CISD3 C>G	17	36887055	36887055	C	G	CISD3	c.84+7C>G	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36887055C>G	VUS	1 lab	e35357c095
17:80765503 TBCD GAAGGAC>G	17	80765503	80765516	GAAGGAC	G	TBCD	c.1115_1120del	NM_005993.5	NP_005984.3:p.(Lys372_Asp373del)	NC_000017.10:g.80765511_80765516del	VUS	1 lab	e353ebbfd5
8:100791212 VPS13B C>T	8	100791212	100791212	C	T	VPS13B	c.7732C>T	NM_152564.5	NP_689777.3:p.(Gln2578Ter)	NC_000008.10:g.100791212C>T	(Likely) pathogenic	1 lab	e354cfcefa
3:184104353 CHRD T>C	3	184104353	184104353	T	C	CHRD	c.2006T>C	NM_003741.4	NP_003732.2:p.(Leu669Pro)	NC_000003.11:g.184104353T>C	(Likely) benign	1 lab	e3560585dc
9:135944196 CEL G>A	9	135944196	135944196	G	A	CEL	c.1033G>A	NM_001807.6	NP_001798.3:p.(Ala345Thr)	NC_000009.11:g.135944196G>A	(Likely) benign	1 lab	e356d5f03a
10:1175180 WDR37 G>T	10	1175180	1175180	G	T	WDR37	c.1381G>T	NM_014023.4	NP_054742.2:p.(Ala461Ser)	NC_000010.10:g.1175180G>T	VUS	1 lab	2ce32c336f
1:235659621 B3GALNT2 G>GA	1	235659621	235659635	G	GA	B3GALNT2	c.113-1484dup	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235659635dup	(Likely) benign	1 lab	e357a76ca3
8:32505706 NRG1 T>C	8	32505706	32505706	T	C	NRG1	c.502+31303T>C	NM_013964.5	NP_039258.1:p.?	NC_000008.10:g.32505706T>C	(Likely) benign	1 lab	e357f884e5
2:44586631 PREPL C>T	2	44586631	44586631	C	T	PREPL	c.-49+1888G>A	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44586631C>T	(Likely) benign	1 lab	e35a3bfc1a
17:12656596 MYOCD C>A	17	12656596	12656596	C	A	MYOCD	c.1991C>A	NM_001146312.3	NP_001139784.1:p.(Ser664Tyr)	NC_000017.10:g.12656596C>A	(Likely) benign	1 lab	e35a95a08f
1:247588511 NLRP3 C>T	1	247588511	247588511	C	T	NLRP3	c.1760C>T	NM_001243133.2	NP_001230062.1:p.(Thr587Ile)	NC_000001.10:g.247588511C>T	VUS	1 lab	2f5e84eb7a
2:149227710 MBD5 C>T	2	149227710	149227710	C	T	MBD5	c.2198C>T	NM_001378120.1	NP_001365049.1:p.(Ser733Phe)	NC_000002.11:g.149227710C>T	(Likely) benign	1 lab	e35c2aa98b
15:34112014 RYR3 C>G	15	34112014	34112014	C	G	RYR3	c.10758+6C>G	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34112014C>G	VUS	1 lab	e35e042f75
1:39783079 MACF1 G>A	1	39783079	39783079	G	A	MACF1	c.3782G>A	NM_001394062.1	NP_001380991.1:p.(Arg1261His)	NC_000001.10:g.39783079G>A	(Likely) benign	1 lab	e37798da53
9:120176937 ASTN2 T>TCCCAGC	9	120176937	120176946	T	TCCCAGC	ASTN2	c.274_279dup	NM_001365068.1	NP_001351997.1:p.(Ala92_Gly93dup)	NC_000009.11:g.120176941_120176946dup	VUS	1 lab	e360a938dd
1:176563773 PAPPA2 G>A	1	176563773	176563773	G	A	PAPPA2	c.1033G>A	NM_020318.3	NP_064714.2:p.(Asp345Asn)	NC_000001.10:g.176563773G>A	VUS	1 lab	e3617c24fa
X:24075878 EIF2S3 T>A	X	24075878	24075878	T	A	EIF2S3	c.383+7T>A	NM_001415.4	NP_001406.1:p.?	NC_000023.10:g.24075878T>A	(Likely) benign	1 lab	e36182dbb8
22:41573882 EP300 G>A	22	41573882	41573882	G	A	EP300	c.6167G>A	NM_001429.4	NP_001420.2:p.(Arg2056Gln)	NC_000022.10:g.41573882G>A	(Likely) benign	1 lab	e361937fd2
3:132338334 ACAD11 G>C	3	132338334	132338334	G	C	ACAD11	c.1253C>G	NM_032169.5	NP_115545.3:p.(Pro418Arg)	NC_000003.11:g.132338334G>C	VUS	1 lab	e3625b758e
1:980806 AGRN C>CT	1	980806	980807	C	CT	AGRN	c.2440dup	NM_198576.4	NP_940978.2:p.(Cys814LeufsTer11)	NC_000001.10:g.980807dup	VUS	1 lab	e362709b52
14:105722778 BRF1 AC>A	14	105722778	105722782	AC	A	BRF1	c.471+76del	NM_001519.4	NP_001510.2:p.?	NC_000014.8:g.105722782del	(Likely) benign	1 lab	e36367a473
11:6653582 DCHS1 A>G	11	6653582	6653582	A	G	DCHS1	c.3161T>C	NM_003737.4	NP_003728.1:p.(Leu1054Pro)	NC_000011.9:g.6653582A>G	(Likely) benign	1 lab	e364fc0301
7:107557274 DLD T>C	7	107557274	107557274	T	C	DLD	c.911T>C	NM_000108.5	NP_000099.2:p.(Ile304Thr)	NC_000007.13:g.107557274T>C	VUS	1 lab	e365cc4095
12:40716166 LRRK2 T>C	12	40716166	40716166	T	C	LRRK2	c.5363T>C	NM_198578.4	NP_940980.4:p.(Met1788Thr)	NC_000012.11:g.40716166T>C	VUS	1 lab	e366e341bb
4:39458164 RPL9 TTAAA>T	4	39458164	39458175	TTAAA	T	RPL9	c.259-10_259-7del	NM_000661.5	NP_000652.2:p.?	NC_000004.11:g.39458172_39458175del	(Likely) benign	1 lab	e369ca1efb
16:3705881 DNASE1 A>G	16	3705881	3705881	A	G	DNASE1	c.179A>G	NM_005223.4	NP_005214.2:p.(Gln60Arg)	NC_000016.9:g.3705881A>G	VUS	1 lab	2ce53b437e
12:121434371 HNF1A C>G	12	121434371	121434371	C	G	HNF1A	c.1135C>G	NM_000545.8	NP_000536.6:p.(Pro379Ala)	NC_000012.11:g.121434371C>G	(Likely) benign	1 lab	e36a43ddab
2:152473972 NEB G>T	2	152473972	152473972	G	T	NEB	c.11087C>A	NM_001164508.2	NP_001157980.2:p.(Thr3696Asn)	NC_000002.11:g.152473972G>T	(Likely) benign	1 lab	e36c2cec43
5:138643222 MATR3 G>C	5	138643222	138643222	G	C	MATR3	c.118G>C	NM_018834.6	NP_061322.2:p.(Ala40Pro)	NC_000005.9:g.138643222G>C	VUS	1 lab	e36c770f26
16:89251690 CDH15 C>G	16	89251690	89251690	C	G	CDH15	c.612C>G	NM_004933.3	NP_004924.1:p.(Ile204Met)	NC_000016.9:g.89251690C>G	VUS	1 lab	e36c7ca850
22:51063863 ARSA G>A	22	51063863	51063863	G	A	ARSA	c.1240C>T	NM_000487.6	NP_000478.3:p.(Pro414Ser)	NC_000022.10:g.51063863G>A	VUS	1 lab	e36cdff777
15:59146698 MINDY2 A>C	15	59146698	59146698	A	C	MINDY2	c.1755A>C	NM_001040450.3	NP_001035540.1:p.(Gln585His)	NC_000015.9:g.59146698A>C	(Likely) benign	1 lab	e36d357ca2
19:47422504 ARHGAP35 C>T	19	47422504	47422504	C	T	ARHGAP35	c.572C>T	NM_004491.5	NP_004482.4:p.(Thr191Ile)	NC_000019.9:g.47422504C>T	VUS	1 lab	e36f430a63
19:51219677 SHANK1 C>A	19	51219677	51219677	C	A	SHANK1	c.314G>T	NM_016148.5	NP_057232.2:p.(Cys105Phe)	NC_000019.9:g.51219677C>A	VUS	1 lab	e36f7ba0c3
17:36499165 GPR179 C>G	17	36499165	36499165	C	G	GPR179	c.508G>C	NM_001004334.4	NP_001004334.3:p.(Gly170Arg)	NC_000017.10:g.36499165C>G	(Likely) benign	1 lab	e3724bc1bf
1:1153129 SDF4 C>T	1	1153129	1153129	C	T	SDF4	c.892-61G>A	NM_016176.6	NP_057260.3:p.?	NC_000001.10:g.1153129C>T	(Likely) benign	1 lab	e373896449
15:48713793 FBN1 C>T	15	48713793	48713793	C	T	FBN1	c.7661G>A	NM_000138.4	NP_000129.3:p.(Arg2554Gln)	NC_000015.9:g.48713793C>T	(Likely) benign	1 lab	2f5ef7ff30
6:32163648 NOTCH4 G>T	6	32163648	32163648	G	T	NOTCH4	c.5578C>A	NM_004557.4	NP_004548.3:p.(Arg1860Ser)	NC_000006.11:g.32163648G>T	(Likely) benign	1 lab	e375f86487
12:80749618 OTOGL T>C	12	80749618	80749618	T	C	OTOGL	c.5696T>C	NM_001378609.3	NP_001365538.2:p.(Ile1899Thr)	NC_000012.11:g.80749618T>C	VUS	1 lab	e377a5d098
5:13864729 DNAH5 C>T	5	13864729	13864729	C	T	DNAH5	c.4373G>A	NM_001369.3	NP_001360.1:p.(Arg1458Gln)	NC_000005.9:g.13864729C>T	(Likely) benign	1 lab	e378284b43
X:85282496 CHM A>C	X	85282496	85282496	A	C	CHM	c.115T>G	NM_000390.4	NP_000381.1:p.(Ser39Ala)	NC_000023.10:g.85282496A>C	(Likely) benign	1 lab	e37898ee85
17:33434435 RAD51D T>C	17	33434435	33434435	T	C	RAD51D	c.295A>G	NM_002878.4	NP_002869.3:p.(Thr99Ala)	NC_000017.10:g.33434435T>C	VUS	1 lab	e379a27453
21:34922949 SON A>G	21	34922949	34922949	A	G	SON	c.1412A>G	NM_138927.4	NP_620305.3:p.(Glu471Gly)	NC_000021.8:g.34922949A>G	(Likely) benign	1 lab	e379a3c9ab
19:33695537 LRP3 C>G	19	33695537	33695537	C	G	LRP3	c.261-7C>G	NM_002333.4	NP_002324.2:p.?	NC_000019.9:g.33695537C>G	(Likely) benign	1 lab	e37a62db12
4:103610848 MANBA A>G	4	103610848	103610848	A	G	MANBA	c.850-7T>C	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103610848A>G	VUS	1 lab	e37ab1d82a
12:57604564 LRP1 C>T	12	57604564	57604564	C	T	LRP1	c.12818C>T	NM_002332.3	NP_002323.2:p.(Ala4273Val)	NC_000012.11:g.57604564C>T	VUS	1 lab	e37d20ce5c
3:46904907 MYL3 G>A	3	46904907	46904907	G	A	MYL3	c.-27C>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46904907G>A	(Likely) benign	1 lab	2f6366eb68
14:78177179 SLIRP A>G	14	78177179	78177179	A	G	SLIRP	c.98-2A>G	NM_031210.6	NP_112487.1:p.?	NC_000014.8:g.78177179A>G	VUS	1 lab	e37dcfc8ce
X:53349891 IQSEC2 G>A	X	53349891	53349891	G	A	IQSEC2	c.431C>T	NM_001111125.3	NP_001104595.1:p.(Thr144Ile)	NC_000023.10:g.53349891G>A	(Likely) benign	1 lab	e37ea70f4f
5:218471 SDHA A>G	5	218471	218471	A	G	SDHA	c.1A>G	NM_004168.4	NP_004159.2:p.(Met1?)	NC_000005.9:g.218471A>G	(Likely) pathogenic	1 lab	e3802fd5e0
10:131640567 EBF3 G>A	10	131640567	131640567	G	A	EBF3	c.1195-10C>T	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131640567G>A	(Likely) benign	1 lab	e380926701
9:138715791 CAMSAP1 C>T	9	138715791	138715791	C	T	CAMSAP1	c.1400+5G>A	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138715791C>T	(Likely) benign	1 lab	e380db3726
15:64021690 HERC1 G>A	15	64021690	64021690	G	A	HERC1	c.3021+6C>T	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.64021690G>A	(Likely) benign	1 lab	e38112878b
19:1460860 APC2 C>A	19	1460860	1460860	C	A	APC2	c.1521+4C>A	NM_005883.3	NP_005874.1:p.?	NC_000019.9:g.1460860C>A	VUS	1 lab	e3846ecf02
6:44274070 AARS2 C>T	6	44274070	44274070	C	T	AARS2	c.1247G>A	NM_020745.4	NP_065796.2:p.(Arg416Lys)	NC_000006.11:g.44274070C>T	VUS	1 lab	e3875452de
6:42974283 PPP2R5D C>T	6	42974283	42974283	C	T	PPP2R5D	c.188C>T	NM_006245.4	NP_006236.1:p.(Thr63Met)	NC_000006.11:g.42974283C>T	VUS	1 lab	e387612ade
10:89473069 PAPSS2 T>TAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAA	PAPSS2	c.381+15_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473082_89473091dup	(Likely) benign	1 lab	e3877aaa25
13:101707781 NALCN T>C	13	101707781	101707781	T	C	NALCN	c.5083A>G	NM_052867.4	NP_443099.1:p.(Thr1695Ala)	NC_000013.10:g.101707781T>C	VUS	1 lab	e387c2a3be
7:36661364 AOAH C>T	7	36661364	36661364	C	T	AOAH	c.605G>A	NM_001637.4	NP_001628.1:p.(Arg202Gln)	NC_000007.13:g.36661364C>T	(Likely) benign	1 lab	e3889038e1
1:145706830 CD160 C>A	1	145706830	145706830	C	A	CD160	c.-72G>T	NM_007053.4	NP_008984.1:p.?	NC_000001.10:g.145706830C>A	(Likely) benign	1 lab	e3891fd92e
15:89400790 ACAN T>C	15	89400790	89400790	T	C	ACAN	c.4974T>C	NM_001369268.1	NP_001356197.1:p.(Thr1658=)	NC_000015.9:g.89400790T>C	(Likely) benign	1 lab	e389418584
2:178528608 PDE11A T>C	2	178528608	178528608	T	C	PDE11A	c.2632A>G	NM_016953.4	NP_058649.3:p.(Met878Val)	NC_000002.11:g.178528608T>C	(Likely) benign	1 lab	e389a423cd
16:3081048 BICDL2 C>T	16	3081048	3081048	C	T	BICDL2	c.386G>A	NM_001369667.1	NP_001356596.1:p.(Arg129Gln)	NC_000016.9:g.3081048C>T	VUS	1 lab	e389d819d7
3:53259909 TKT C>T	3	53259909	53259909	C	T	TKT	c.1735G>A	NM_001064.4	NP_001055.1:p.(Glu579Lys)	NC_000003.11:g.53259909C>T	VUS	1 lab	e38bbd30e7
X:76872125 ATRX G>T	X	76872125	76872125	G	T	ATRX	c.5522C>A	NM_000489.6	NP_000480.3:p.(Ser1841Tyr)	NC_000023.10:g.76872125G>T	VUS	1 lab	e38d883ead
14:105858971 PACS2 C>T	14	105858971	105858971	C	T	PACS2	c.2271C>T	NM_001100913.3	NP_001094383.2:p.(Ala757=)	NC_000014.8:g.105858971C>T	(Likely) benign	1 lab	2ce5e9159b
3:185641778 TRA2B GAA>G	3	185641778	185641788	GAA	G	TRA2B	c.334-8_334-7del	NM_004593.3	NP_004584.1:p.?	NC_000003.11:g.185641787_185641788del	(Likely) benign	1 lab	e38f5c9cf6
22:32162668 DEPDC5 T>A	22	32162668	32162668	T	A	DEPDC5	c.363+14T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32162668T>A	(Likely) benign	1 lab	2f63754372
17:62474019 POLG2 G>A	17	62474019	62474019	G	A	POLG2	c.1379C>T	NM_007215.4	NP_009146.2:p.(Thr460Ile)	NC_000017.10:g.62474019G>A	VUS	1 lab	e392e43bfe
X:595394 SHOX G>A	X	595394	595394	G	A	SHOX	c.319G>A	NM_000451.3	NP_000442.1:p.(Glu107Lys)	NC_000023.10:g.595394G>A	VUS	1 lab	e39598f273
16:2818193 SRRM2 C>T	16	2818193	2818193	C	T	SRRM2	c.7664C>T	NM_016333.4	NP_057417.3:p.(Ser2555Phe)	NC_000016.9:g.2818193C>T	VUS	1 lab	e3977a3d62
15:69223039 SPESP1 C>T	15	69223039	69223039	C	T	SPESP1	c.47C>T	NM_145658.4	NP_663633.1:p.(Ser16Phe)	NC_000015.9:g.69223039C>T	(Likely) benign	1 lab	e397de64d1
14:92537379 ATXN3 T>TGCTGCTGCTGCTGCTGCTGCTGCTGC	14	92537379	92537380	T	TGCTGCTGCTGCTGCTGCTGCTGCTGC	ATXN3	c.890_891insGCAGCAGCAGCAGCAGCAGCAGCAGC	NM_004993.6	NP_004984.2:p.(Gly306HisfsTer34)	NC_000014.8:g.92537379_92537380insGCTGCTGCTGCTGCTGCTGCTGCTGC	(Likely) benign	1 lab	e39b21d3c0
7:45123782 NACAD ACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACG>A	7	45123782	45123859	ACAAGCGTGGCTGCAGCCACAGGCTTTGGGGCTGACGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACG	A	NACAD	c.1920_1996del	NM_001146334.2	NP_001139806.1:p.(Met642ProfsTer4)	NC_000007.13:g.45123783_45123859del	(Likely) benign	1 lab	e39b70083b
X:57146944 SPIN2B C>T	X	57146944	57146944	C	T	SPIN2B	c.119G>A	NM_001006681.2	NP_001006682.1:p.(Arg40Gln)	NC_000023.10:g.57146944C>T	VUS	1 lab	e39c062692
2:225346744 CUL3 G>A	2	225346744	225346744	G	A	CUL3	c.1894C>T	NM_003590.5	NP_003581.1:p.(Gln632Ter)	NC_000002.11:g.225346744G>A	(Likely) pathogenic	1 lab	e39c92e67e
7:152099120 KMT2C G>A	7	152099120	152099120	G	A	KMT2C	c.161+33591C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099120G>A	(Likely) benign	1 lab	e39d69eb12
15:65369536 KBTBD13 T>G	15	65369536	65369536	T	G	KBTBD13	c.383T>G	NM_001101362.3	NP_001094832.1:p.(Phe128Cys)	NC_000015.9:g.65369536T>G	VUS	1 lab	e39db80c91
19:10655449 ATG4D G>T	19	10655449	10655449	G	T	ATG4D	c.236-10G>T	NM_032885.6	NP_116274.3:p.?	NC_000019.9:g.10655449G>T	(Likely) benign	1 lab	e39f3a8f3c
17:27829601 TAOK1 TC>T	17	27829601	27829603	TC	T	TAOK1	c.1204-4del	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27829603del	(Likely) benign	1 lab	e39f7ef44c
17:7814937 CHD3 G>A	17	7814937	7814937	G	A	CHD3	c.*34G>A	NM_001005273.3	NP_001005273.1:p.?	NC_000017.10:g.7814937G>A	(Likely) benign	1 lab	e3a1e81d6e
22:40760552 ADSL T>C	22	40760552	40760552	T	C	ADSL	c.1191+183T>C	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40760552T>C	(Likely) benign	1 lab	2f6455b030
11:62910984 SLC22A24 G>A	11	62910984	62910984	G	A	SLC22A24	c.268C>T	NM_001136506.2	NP_001129978.2:p.(Arg90Cys)	NC_000011.9:g.62910984G>A	VUS	1 lab	e3a3561b6c
12:121432115 HNF1A G>T	12	121432115	121432115	G	T	HNF1A	c.862G>T	NM_000545.8	NP_000536.6:p.(Gly288Trp)	NC_000012.11:g.121432115G>T	(Likely) pathogenic	1 lab	e3a5e3a078
5:14378111 TRIO T>A	5	14378111	14378111	T	A	TRIO	c.3332-10T>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14378111T>A	(Likely) benign	1 lab	e3a6479f6e
2:176812291 LNPK G>T	2	176812291	176812291	G	T	LNPK	c.623C>A	NM_030650.3	NP_085153.1:p.(Pro208Gln)	NC_000002.11:g.176812291G>T	VUS	1 lab	e3a652ee3b
2:179483002 TTN T>G	2	179483002	179483002	T	G	TTN	c.47183A>C	NM_001267550.2	NP_001254479.2:p.(Tyr15728Ser)	NC_000002.11:g.179483002T>G	VUS	1 lab	e3a720b1c2
15:75941966 SNX33 C>T	15	75941966	75941966	C	T	SNX33	c.523C>T	NM_153271.2	NP_695003.1:p.(Arg175Ter)	NC_000015.9:g.75941966C>T	VUS	1 lab	e3a7fdf116
X:73745669 SLC16A2 C>T	X	73745669	73745669	C	T	SLC16A2	c.1111C>T	NM_006517.5	NP_006508.2:p.(Arg371Cys)	NC_000023.10:g.73745669C>T	VUS	1 lab	e3a84aebd0
14:74971538 LTBP2 C>T	14	74971538	74971538	C	T	LTBP2	c.4396G>A	NM_000428.3	NP_000419.1:p.(Gly1466Arg)	NC_000014.8:g.74971538C>T	VUS	1 lab	e3a8bd4bff
16:79245726 WWOX G>C	16	79245726	79245726	G	C	WWOX	c.*33G>C	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.79245726G>C	(Likely) benign	1 lab	e3a9b25b1e
6:157099312 ARID1B GCACCACCACCACCACCATGCCCACCAC>G	6	157099312	157099350	GCACCACCACCACCACCATGCCCACCAC	G	ARID1B	c.510_536del	NM_001374828.1	NP_001361757.1:p.(His171_His179del)	NC_000006.11:g.157099324_157099350del	VUS	1 lab	e3ab3b4afd
12:10046146 KLRF2 TA>T	12	10046146	10046147	TA	T	KLRF2	c.479+7del	NM_001190765.1	NP_001177694.1:p.?	NC_000012.11:g.10046147del	VUS	1 lab	e3ac74e260
8:20075801 ATP6V1B2 G>A	8	20075801	20075801	G	A	ATP6V1B2	c.1396+8G>A	NM_001693.4	NP_001684.2:p.?	NC_000008.10:g.20075801G>A	(Likely) benign	1 lab	e3ad07a6e7
9:101068621 GABBR2 C>T	9	101068621	101068621	C	T	GABBR2	c.2011G>A	NM_005458.8	NP_005449.5:p.(Gly671Ser)	NC_000009.11:g.101068621C>T	VUS	1 lab	e3ae2b78d4
19:8651335 ADAMTS10 A>C	19	8651335	8651335	A	C	ADAMTS10	c.2423T>G	NM_030957.4	NP_112219.3:p.(Leu808Arg)	NC_000019.9:g.8651335A>C	(Likely) benign	1 lab	e3ae60c1ab
11:22294470 ANO5 G>C	11	22294470	22294470	G	C	ANO5	c.2170G>C	NM_213599.3	NP_998764.1:p.(Ala724Pro)	NC_000011.9:g.22294470G>C	VUS	1 lab	e3b07cc27b
X:109696280 RTL9 C>T	X	109696280	109696280	C	T	RTL9	c.2435C>T	NM_001385449.1	NP_001372378.1:p.(Ser812Phe)	NC_000023.10:g.109696280C>T	(Likely) benign	1 lab	e3b0cd20c2
13:115057182 UPF3A AAAG>A	13	115057182	115057195	AAAG	A	UPF3A	c.772_774del	NM_023011.4	NP_075387.1:p.(Arg258del)	NC_000013.10:g.115057193_115057195del	(Likely) benign	1 lab	e3b0cf3b3f
12:49435270 KMT2D G>A	12	49435270	49435270	G	A	KMT2D	c.6283C>T	NM_003482.4	NP_003473.3:p.(Arg2095Cys)	NC_000012.11:g.49435270G>A	VUS	1 lab	e3b2d1a939
15:63981853 HERC1 T>C	15	63981853	63981853	T	C	HERC1	c.5983A>G	NM_003922.4	NP_003913.3:p.(Thr1995Ala)	NC_000015.9:g.63981853T>C	(Likely) benign	1 lab	e3b2da3b76
19:41929066 BCKDHA C>T	19	41929066	41929066	C	T	BCKDHA	c.1159C>T	NM_000709.4	NP_000700.1:p.(Arg387Cys)	NC_000019.9:g.41929066C>T	VUS	1 lab	e3b468bdf9
2:179429286 TTN C>T	2	179429286	179429286	C	T	TTN	c.81573G>A	NM_001267550.1	NP_001254479.1:p.(Trp27191Ter)	NC_000002.11:g.179429286C>T	(Likely) pathogenic	1 lab	2f6732b948
1:181705494 CACNA1E CAGA>C	1	181705494	181705502	CAGA	C	CACNA1E	c.3352_3354del	NM_001205293.3	NP_001192222.1:p.(Lys1118del)	NC_000001.10:g.181705500_181705502del	VUS	1 lab	e3b6260b21
2:241713416 KIF1A A>C	2	241713416	241713416	A	C	KIF1A	c.1037+184T>G	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241713416A>C	(Likely) benign	1 lab	e3b6d37876
15:34134232 RYR3 T>C	15	34134232	34134232	T	C	RYR3	c.13205T>C	NM_001036.6	NP_001027.3:p.(Leu4402Ser)	NC_000015.9:g.34134232T>C	VUS	1 lab	e3b85a734b
3:53140884 RFT1 G>T	3	53140884	53140884	G	T	RFT1	c.777C>A	NM_052859.4	NP_443091.1:p.(Gly259=)	NC_000003.11:g.53140884G>T	VUS	1 lab	e3ba13e97e
16:3807325 CREBBP A>G	16	3807325	3807325	A	G	CREBBP	c.3662T>C	NM_004380.3	NP_004371.2:p.(Ile1221Thr)	NC_000016.9:g.3807325A>G	(Likely) pathogenic	1 lab	e3bbdba611
6:117246821 RFX6 AG>A	6	117246821	117246823	AG	A	RFX6	c.1885+1del	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117246823del	(Likely) pathogenic	1 lab	e3bc1c0697
1:100327962 AGL G>A	1	100327962	100327962	G	A	AGL	c.443G>A	NM_000642.3	NP_000633.2:p.(Arg148Lys)	NC_000001.10:g.100327962G>A	(Likely) benign	1 lab	e3bd919133
8:144998483 PLEC CCTCCGCCAGCCGCCGCAGGCGCTCGTT>C	8	144998483	144998517	CCTCCGCCAGCCGCCGCAGGCGCTCGTT	C	PLEC	c.5587_5613del	NM_201384.3	NP_958786.1:p.(Asn1863_Glu1871del)	NC_000008.10:g.144998491_144998517del	VUS	1 lab	e3be5262f7
7:128624293 TNPO3 G>A	7	128624293	128624293	G	A	TNPO3	c.1711C>T	NM_012470.4	NP_036602.1:p.(Arg571Ter)	NC_000007.13:g.128624293G>A	VUS	1 lab	e3c0204bb1
19:18964065 UPF1 G>A	19	18964065	18964065	G	A	UPF1	c.1062G>A	NM_002911.4	NP_002902.2:p.(Met354Ile)	NC_000019.9:g.18964065G>A	VUS	1 lab	e3c05e828a
X:153070108 PDZD4 T>C	X	153070108	153070108	T	C	PDZD4	c.1028A>G	NM_001303512.2	NP_001290441.1:p.(Glu343Gly)	NC_000023.10:g.153070108T>C	(Likely) benign	1 lab	e3c25ca98c
6:25726383 H2AC1 G>A	6	25726383	25726383	G	A	H2AC1	c.373C>T	NM_170745.3	NP_734466.1:p.(His125Tyr)	NC_000006.11:g.25726383G>A	VUS	1 lab	e3c2be402d
15:82934913 MISSING A>G	15	82934913	82934913	A	G	MISSING				NC_000015.9:g.82934913A>G	(Likely) benign	1 lab	e3c38c38d6
16:56385288 GNAO1 G>A	16	56385288	56385288	G	A	GNAO1	c.724-8G>A	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56385288G>A	(Likely) pathogenic	1 lab	e3c4161de9
6:91269889 MAP3K7 C>T	6	91269889	91269889	C	T	MAP3K7	c.388G>A	NM_145331.3	NP_663304.1:p.(Ala130Thr)	NC_000006.11:g.91269889C>T	(Likely) benign	1 lab	e3c64fab2e
17:19684401 ULK2 C>T	17	19684401	19684401	C	T	ULK2	c.2656G>A	NM_014683.4	NP_055498.3:p.(Val886Met)	NC_000017.10:g.19684401C>T	VUS	1 lab	e3c7f69fd1
17:4448591 MYBBP1A G>A	17	4448591	4448591	G	A	MYBBP1A	c.2123C>T	NM_014520.4	NP_055335.2:p.(Thr708Met)	NC_000017.10:g.4448591G>A	(Likely) benign	1 lab	e3c80052ff
12:49421065 KMT2D G>A	12	49421065	49421065	G	A	KMT2D	c.14684C>T	NM_003482.4	NP_003473.3:p.(Thr4895Ile)	NC_000012.11:g.49421065G>A	VUS	1 lab	e3c9978867
11:6519942 DNHD1 C>G	11	6519942	6519942	C	G	DNHD1	c.497C>G	NM_144666.3	NP_653267.2:p.(Pro166Arg)	NC_000011.9:g.6519942C>G	VUS	1 lab	e3cc9cfc03
16:84188352 DNAAF1 C>G	16	84188352	84188352	C	G	DNAAF1	c.523C>G	NM_178452.6	NP_848547.4:p.(Leu175Val)	NC_000016.9:g.84188352C>G	VUS	1 lab	e3cd7e9bda
11:803410 PIDD1 T>G	11	803410	803410	T	G	PIDD1	c.473A>C	NM_145886.4	NP_665893.2:p.(Asn158Thr)	NC_000011.9:g.803410T>G	VUS	1 lab	e3cea9ba20
22:42608319 TCF20 C>T	22	42608319	42608319	C	T	TCF20	c.2993G>A	NM_001378418.1	NP_001365347.1:p.(Arg998Gln)	NC_000022.10:g.42608319C>T	(Likely) benign	1 lab	e3d0e9c9f7
1:156111980 MISSING GGT>G	1	156111980	156111982	GGT	G	MISSING				NC_000001.10:g.156111981_156111982del	(Likely) benign	1 lab	e3d118a017
17:29684111 NF1 A>T	17	29684111	29684111	A	T	NF1	c.7806+3A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684111A>T	(Likely) pathogenic	1 lab	2ce64cd365
9:124062240 GSN C>T	9	124062240	124062240	C	T	GSN	c.-9-2001C>T	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062240C>T	(Likely) benign	1 lab	e3d58c721b
17:29654725 NF1 A>C	17	29654725	29654725	A	C	NF1	c.5477A>C	NM_001042492.3	NP_001035957.1:p.(His1826Pro)	NC_000017.10:g.29654725A>C	VUS	1 lab	e3d5a8c165
2:179496952 TTN C>T	2	179496952	179496952	C	T	TTN	c.43669G>A	NM_001267550.2	NP_001254479.2:p.(Asp14557Asn)	NC_000002.11:g.179496952C>T	VUS	1 lab	e3d76056f7
7:14622748 DGKB C>T	7	14622748	14622748	C	T	DGKB	c.1448G>A	NM_001350709.2	NP_001337638.1:p.(Arg483His)	NC_000007.13:g.14622748C>T	(Likely) benign	1 lab	e3d77bfe26
2:121712820 GLI2 G>C	2	121712820	121712820	G	C	GLI2	c.458-1G>C	NM_001374353.1	NP_001361282.1:p.?	NC_000002.11:g.121712820G>C	VUS	1 lab	e3d7f660f0
16:67314615 PLEKHG4 C>A	16	67314615	67314615	C	A	PLEKHG4	c.501C>A	NM_001129729.3	NP_001123201.1:p.(Ala167=)	NC_000016.9:g.67314615C>A	(Likely) benign	1 lab	e3d83efffc
11:44130751 EXT2 C>T	11	44130751	44130751	C	T	EXT2	c.544C>T	NM_207122.2	NP_997005.1:p.(Arg182Ter)	NC_000011.9:g.44130751C>T	(Likely) pathogenic	1 lab	e3d9867cb2
20:61992467 CHRNA4 C>T	20	61992467	61992467	C	T	CHRNA4	c.51G>A	NM_000744.6	NP_000735.1:p.(Leu17=)	NC_000020.10:g.61992467C>T	(Likely) benign	1 lab	2f6ec601a8
16:14041912 ERCC4 A>G	16	14041912	14041912	A	G	ERCC4	c.2459A>G	NM_005236.3	NP_005227.1:p.(Lys820Arg)	NC_000016.9:g.14041912A>G	VUS	1 lab	e3da3846f7
17:34074229 GAS2L2 CCTTA>C	17	34074229	34074236	CCTTA	C	GAS2L2	c.887_890del	NM_139285.4	NP_644814.1:p.(Val296GlyfsTer13)	NC_000017.10:g.34074233_34074236del	VUS	1 lab	e3db6f2082
4:126237984 FAT4 A>G	4	126237984	126237984	A	G	FAT4	c.418A>G	NM_001291303.3	NP_001278232.1:p.(Ile140Val)	NC_000004.11:g.126237984A>G	VUS	1 lab	e3dc0be64b
7:70254815 AUTS2 C>G	7	70254815	70254815	C	G	AUTS2	c.2613C>G	NM_015570.4	NP_056385.1:p.(Ser871Arg)	NC_000007.13:g.70254815C>G	VUS	1 lab	e3dc674e5b
6:64487908 EYS G>C	6	64487908	64487908	G	C	EYS	c.7889C>G	NM_001142800.2	NP_001136272.1:p.(Thr2630Ser)	NC_000006.11:g.64487908G>C	(Likely) benign	1 lab	e3dca5d4d8
4:55973979 KDR G>A	4	55973979	55973979	G	A	KDR	c.1337C>T	NM_002253.4	NP_002244.1:p.(Thr446Met)	NC_000004.11:g.55973979G>A	VUS	1 lab	e3dd0ab097
5:151043072 SPARC T>C	5	151043072	151043072	T	C	SPARC	c.*60A>G	NM_003118.4	NP_003109.1:p.?	NC_000005.9:g.151043072T>C	(Likely) benign	1 lab	e3de24e145
11:640070 DRD4 GCGGCCCCGAC>G	11	640070	640080	GCGGCCCCGAC	G	DRD4	c.822_831del	NM_000797.4	NP_000788.2:p.(Gly275ValfsTer68)	NC_000011.9:g.640071_640080del	VUS	1 lab	e3de2892fa
X:67937724 STARD8 A>G	X	67937724	67937724	A	G	STARD8	c.968A>G	NM_001142503.3	NP_001135975.1:p.(Asp323Gly)	NC_000023.10:g.67937724A>G	VUS	1 lab	e3e7bd249e
17:27835084 TAOK1 GC>TT	17	27835084	27835085	GC	TT	TAOK1	c.1509_1510delinsTT	NM_020791.4	NP_065842.1:p.(Gln503_Arg504delinsHisCys)	NC_000017.10:g.27835084_27835085delinsTT	VUS	1 lab	e3df681042
9:79438584 PRUNE2 T>C	9	79438584	79438584	T	C	PRUNE2	c.720A>G	NM_015225.3	NP_056040.2:p.(Ile240Met)	NC_000009.11:g.79438584T>C	(Likely) benign	1 lab	e3dfb8aaaa
16:57712130 ADGRG3 C>T	16	57712130	57712130	C	T	ADGRG3	c.394C>T	NM_170776.5	NP_740746.4:p.(Arg132Ter)	NC_000016.9:g.57712130C>T	VUS	1 lab	e3e00e0f89
X:12937355 TLR8 A>G	X	12937355	12937355	A	G	TLR8	c.196A>G	NM_138636.5	NP_619542.1:p.(Thr66Ala)	NC_000023.10:g.12937355A>G	VUS	1 lab	e3e017ce67
19:2433630 LMNB2 T>C	19	2433630	2433630	T	C	LMNB2	c.1482+194A>G	NM_032737.4	NP_116126.3:p.?	NC_000019.9:g.2433630T>C	(Likely) benign	1 lab	e3e0c35bc7
16:27585241 KATNIP C>G	16	27585241	27585241	C	G	KATNIP	c.27C>G	NM_015202.3	NP_056017.3:p.(Ala9=)	NC_000016.9:g.27585241C>G	(Likely) benign	1 lab	2f705226ab
14:105609926 JAG2 G>A	14	105609926	105609926	G	A	JAG2	c.3134C>T	NM_002226.5	NP_002217.3:p.(Ala1045Val)	NC_000014.8:g.105609926G>A	VUS	1 lab	e3e0f9cd1b
5:127712799 FBN2 A>C	5	127712799	127712799	A	C	FBN2	c.1850-253T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127712799A>C	(Likely) benign	1 lab	e3e11df377
18:50912513 DCC G>A	18	50912513	50912513	G	A	DCC	c.2455+5G>A	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50912513G>A	VUS	1 lab	e3e16ecff7
20:60907761 LAMA5 G>A	20	60907761	60907761	G	A	LAMA5	c.3295C>T	NM_005560.6	NP_005551.3:p.(Leu1099Phe)	NC_000020.10:g.60907761G>A	(Likely) benign	1 lab	e3e1bfd794
X:76907781 ATRX T>TTCC	X	76907781	76907798	T	TTCC	ATRX	c.4377_4379dup	NM_000489.6	NP_000480.3:p.(Glu1464dup)	NC_000023.10:g.76907796_76907798dup	VUS	1 lab	e3e21438c2
12:98926856 TMPO G>A	12	98926856	98926856	G	A	TMPO	c.821G>A	NM_003276.2	NP_003267.1:p.(Arg274Lys)	NC_000012.11:g.98926856G>A	(Likely) benign	1 lab	2f7a66a6d5
7:73471808 ELN G>C	7	73471808	73471808	G	C	ELN	c.1358-162G>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471808G>C	(Likely) benign	1 lab	e3e395ae5c
2:71337211 MCEE CT>C	2	71337211	71337219	CT	C	MCEE	c.419del	NM_032601.4	NP_115990.3:p.(Lys140ArgfsTer6)	NC_000002.11:g.71337219del	VUS	1 lab	e3e4bb4862
8:42183584 IKBKB T>A	8	42183584	42183584	T	A	IKBKB	c.2083T>A	NM_001556.3	NP_001547.1:p.(Ser695Thr)	NC_000008.10:g.42183584T>A	(Likely) benign	1 lab	e3f20caf46
X:150832702 PASD1 GCCCAATGGACCAGCAGGA>G	X	150832702	150832724	GCCCAATGGACCAGCAGGA	G	PASD1	c.958_975del	NM_173493.3	NP_775764.2:p.(Met320_Pro325del)	NC_000023.10:g.150832707_150832724del	VUS	1 lab	e3e4fad9be
20:62654158 PRPF6 G>A	20	62654158	62654158	G	A	PRPF6	c.1696G>A	NM_012469.4	NP_036601.2:p.(Ala566Thr)	NC_000020.10:g.62654158G>A	VUS	1 lab	e3e898b39c
15:89401198 ACAN T>C	15	89401198	89401198	T	C	ACAN	c.5382T>C	NM_001369268.1	NP_001356197.1:p.(Asp1794=)	NC_000015.9:g.89401198T>C	(Likely) benign	1 lab	e3e986006c
17:10542410 MYH3 T>C	17	10542410	10542410	T	C	MYH3	c.3199A>G	NM_002470.4	NP_002461.2:p.(Ile1067Val)	NC_000017.10:g.10542410T>C	VUS	1 lab	e3e9d6e3af
15:33381061 FMN1 G>A	15	33381061	33381061	G	A	FMN1	c.1982C>T	NM_001277313.2	NP_001264242.1:p.(Pro661Leu)	NC_000015.9:g.33381061G>A	VUS	1 lab	e3ed2bfd11
11:2432726 TRPM5 G>A	11	2432726	2432726	G	A	TRPM5	c.2638C>T	NM_014555.4	NP_055370.1:p.(Leu880=)	NC_000011.9:g.2432726G>A	VUS	1 lab	e3eded81df
2:86267686 POLR1A G>C	2	86267686	86267686	G	C	POLR1A	c.3573-4C>G	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86267686G>C	(Likely) benign	1 lab	e3ef2814a9
X:151092182 MAGEA4 G>A	X	151092182	151092182	G	A	MAGEA4	c.46G>A	NM_001011548.1	NP_001011548.1:p.(Val16Ile)	NC_000023.10:g.151092182G>A	(Likely) benign	1 lab	e3ef9ad2cf
21:45655271 ICOSLG C>T	21	45655271	45655271	C	T	ICOSLG	c.581G>A	NM_015259.6	NP_056074.1:p.(Arg194Gln)	NC_000021.8:g.45655271C>T	(Likely) benign	1 lab	2f7c7a2f71
17:61995511 GH1 G>C	17	61995511	61995511	G	C	GH1	c.172-15C>G	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995511G>C	(Likely) benign	1 lab	e3f15230f6
7:128478481 FLNC C>T	7	128478481	128478481	C	T	FLNC	c.1208C>T	NM_001458.5	NP_001449.3:p.(Ala403Val)	NC_000007.13:g.128478481C>T	VUS	1 lab	e3f1d9180e
7:70236542 AUTS2 A>G	7	70236542	70236542	A	G	AUTS2	c.1742A>G	NM_015570.4	NP_056385.1:p.(His581Arg)	NC_000007.13:g.70236542A>G	VUS	1 lab	e3f33f7ac4
11:62292213 AHNAK G>A	11	62292213	62292213	G	A	AHNAK	c.9676C>T	NM_001620.3	NP_001611.1:p.(Leu3226Phe)	NC_000011.9:g.62292213G>A	VUS	1 lab	2ce7a01a47
18:47446 TUBB8B CCTGATATTG>C	18	47446	47463	CCTGATATTG	C	TUBB8B	c.1270_1278del	NM_001358689.2	NP_001345618.1:p.(Gln424_Gln426del)	NC_000018.9:g.47455_47463del	(Likely) benign	1 lab	e3f3ea415c
6:42903320 CNPY3 G>A	6	42903320	42903320	G	A	CNPY3	c.284G>A	NM_006586.5	NP_006577.2:p.(Arg95Gln)	NC_000006.11:g.42903320G>A	VUS	1 lab	e3f5536d7c
13:78492462 EDNRB G>C	13	78492462	78492462	G	C	EDNRB	c.247C>G	NM_001122659.3	NP_001116131.1:p.(Arg83Gly)	NC_000013.10:g.78492462G>C	(Likely) benign	1 lab	e3f7518a41
13:21142007 IFT88 GTT>G	13	21142007	21142019	GTT	G	IFT88	c.-7+623_-7+624del	NM_006531.5	NP_006522.2:p.?	NC_000013.10:g.21142018_21142019del	(Likely) benign	1 lab	e3f8941b54
20:44277893 WFDC11 C>T	20	44277893	44277893	C	T	WFDC11	c.243+3G>A	NM_147197.2	NP_671730.1:p.?	NC_000020.10:g.44277893C>T	VUS	1 lab	e3fae860fd
4:175710090 GLRA3 C>T	4	175710090	175710090	C	T	GLRA3	c.76G>A	NM_006529.4	NP_006520.2:p.(Val26Ile)	NC_000004.11:g.175710090C>T	VUS	1 lab	e3fb5887c6
11:17428578 ABCC8 C>T	11	17428578	17428578	C	T	ABCC8	c.3019G>A	NM_000352.6	NP_000343.2:p.(Ala1007Thr)	NC_000011.9:g.17428578C>T	VUS	1 lab	e3fbd6fdd4
3:25805558 NGLY1 G>A	3	25805558	25805558	G	A	NGLY1	c.491C>T	NM_018297.4	NP_060767.2:p.(Thr164Met)	NC_000003.11:g.25805558G>A	(Likely) benign	1 lab	e3fbf16b24
11:122678778 UBASH3B A>G	11	122678778	122678778	A	G	UBASH3B	c.1706A>G	NM_032873.5	NP_116262.2:p.(Asn569Ser)	NC_000011.9:g.122678778A>G	(Likely) benign	1 lab	e3fcbf754c
17:73494775 TMEM94 C>T	17	73494775	73494775	C	T	TMEM94	c.3799C>T	NM_014738.6	NP_055553.3:p.(Leu1267Phe)	NC_000017.10:g.73494775C>T	VUS	1 lab	e3fdfcaa35
11:108381250 EXPH5 T>C	11	108381250	108381250	T	C	EXPH5	c.4984A>G	NM_015065.3	NP_055880.2:p.(Asn1662Asp)	NC_000011.9:g.108381250T>C	(Likely) benign	1 lab	e400021236
15:99434633 IGF1R C>T	15	99434633	99434633	C	T	IGF1R	c.720C>T	NM_000875.5	NP_000866.1:p.(Ser240=)	NC_000015.9:g.99434633C>T	VUS	1 lab	e440120db0
7:100486464 UFSP1 T>G	7	100486464	100486464	T	G	UFSP1	c.657A>C	NM_001430944.2	NP_001417873.1:p.(Ter219CysextTer?)	NC_000007.13:g.100486464T>G	(Likely) benign	1 lab	e4018a3b66
2:217315648 SMARCAL1 GGC>G	2	217315648	217315652	GGC	G	SMARCAL1	c.1934_1935del	NM_014140.4	NP_054859.2:p.(Arg645ProfsTer46)	NC_000002.11:g.217315651_217315652del	(Likely) pathogenic	1 lab	e402330fdd
X:49021370 MAGIX C>T	X	49021370	49021370	C	T	MAGIX	c.449C>T	NM_024859.4	NP_079135.3:p.(Pro150Leu)	NC_000023.10:g.49021370C>T	(Likely) benign	1 lab	e4030fb57d
17:76475198 DNAH17 G>A	17	76475198	76475198	G	A	DNAH17	c.7901C>T	NM_173628.4	NP_775899.3:p.(Ala2634Val)	NC_000017.10:g.76475198G>A	(Likely) benign	1 lab	e4056866f2
19:2438389 LMNB2 C>T	19	2438389	2438389	C	T	LMNB2	c.542G>A	NM_032737.4	NP_116126.3:p.(Arg181Gln)	NC_000019.9:g.2438389C>T	VUS	1 lab	e405ca3459
19:39076726 RYR1 C>G	19	39076726	39076726	C	G	RYR1	c.14869-5C>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39076726C>G	VUS	1 lab	e42380372e
2:44587179 PREPL T>A	2	44587179	44587179	T	A	PREPL	c.-49+1340A>T	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44587179T>A	VUS	1 lab	e406333be3
16:3716025 TRAP1 A>T	16	3716025	3716025	A	T	TRAP1	c.1330T>A	NM_016292.3	NP_057376.2:p.(Tyr444Asn)	NC_000016.9:g.3716025A>T	(Likely) benign	1 lab	e4064eb8e5
5:160115043 ATP10B C>G	5	160115043	160115043	C	G	ATP10B	c.39G>C	NM_025153.3	NP_079429.2:p.(Gln13His)	NC_000005.9:g.160115043C>G	VUS	1 lab	e4067dc7b2
22:19445650 UFD1 G>C	22	19445650	19445650	G	C	UFD1	c.508C>G	NM_005659.7	NP_005650.2:p.(Arg170Gly)	NC_000022.10:g.19445650G>C	VUS	1 lab	e4084438f0
1:149762918 FCGR1A G>A	1	149762918	149762918	G	A	FCGR1A	c.970G>A	NM_000566.3	NP_000557.1:p.(Asp324Asn)	NC_000001.10:g.149762918G>A	(Likely) benign	1 lab	2f7cb010e3
2:39250115 SOS1 T>C	2	39250115	39250115	T	C	SOS1	c.1454A>G	NM_005633.4	NP_005624.2:p.(Asn485Ser)	NC_000002.11:g.39250115T>C	(Likely) benign	1 lab	e408e76db9
11:67236653 TMEM134 G>T	11	67236653	67236653	G	T	TMEM134	c.11C>A	NM_025124.4	NP_079400.1:p.(Ala4Asp)	NC_000011.9:g.67236653G>T	VUS	1 lab	e40b383b1e
19:7152762 INSR G>C	19	7152762	7152762	G	C	INSR	c.2206C>G	NM_000208.4	NP_000199.2:p.(Leu736Val)	NC_000019.9:g.7152762G>C	VUS	1 lab	e40b7d3ce3
6:170881317 TBP C>T	6	170881317	170881317	C	T	TBP	c.984C>T	NM_003194.5	NP_003185.1:p.(Ile328=)	NC_000006.11:g.170881317C>T	(Likely) benign	1 lab	e40e554854
X:54957045 TRO T>G	X	54957045	54957045	T	G	TRO	c.3888T>G	NM_001039705.3	NP_001034794.1:p.(Asn1296Lys)	NC_000023.10:g.54957045T>G	(Likely) benign	1 lab	e40eb095df
7:4830971 AP5Z1 G>T	7	4830971	4830971	G	T	AP5Z1	c.2379G>T	NM_014855.3	NP_055670.1:p.(Thr793=)	NC_000007.13:g.4830971G>T	(Likely) benign	1 lab	e40f578e8e
3:113374414 USF3 G>A	3	113374414	113374414	G	A	USF3	c.6115C>T	NM_001009899.4	NP_001009899.3:p.(Arg2039Cys)	NC_000003.11:g.113374414G>A	VUS	1 lab	e410c8eab5
17:73490859 TMEM94 C>A	17	73490859	73490859	C	A	TMEM94	c.2559C>A	NM_014738.6	NP_055553.3:p.(Tyr853Ter)	NC_000017.10:g.73490859C>A	(Likely) pathogenic	1 lab	e413096bb0
7:34091477 BMPER G>C	7	34091477	34091477	G	C	BMPER	c.681G>C	NM_001365308.1	NP_001352237.1:p.(Gln227His)	NC_000007.13:g.34091477G>C	(Likely) benign	1 lab	e415c2a519
19:50827360 KCNC3 G>C	19	50827360	50827360	G	C	KCNC3	c.871-21C>G	NM_004977.3	NP_004968.2:p.?	NC_000019.9:g.50827360G>C	(Likely) benign	1 lab	2f7ef3f6fe
3:12393134 PPARG G>A	3	12393134	12393134	G	A	PPARG	c.-8-28069G>A	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12393134G>A	(Likely) benign	1 lab	e418c953cf
8:144941073 EPPK1 C>T	8	144941073	144941073	C	T	EPPK1	c.6349G>A	NM_031308.4	NP_112598.3:p.(Gly2117Ser)	NC_000008.10:g.144941073C>T	VUS	1 lab	2ce997a4da
X:153296091 MECP2 G>GCTCTTCTCACC	X	153296091	153296092	G	GCTCTTCTCACC	MECP2	c.1223_1224insGGTGAGAAGAG	NM_001110792.2	NP_001104262.1:p.(Glu409ValfsTer16)	NC_000023.10:g.153296091_153296092insCTCTTCTCACC	(Likely) pathogenic	1 lab	e4192404b3
16:15813120 MYH11 T>C	16	15813120	15813120	T	C	MYH11	c.5128A>G	NM_002474.3	NP_002465.1:p.(Lys1710Glu)	NC_000016.9:g.15813120T>C	VUS	1 lab	e4198069ac
X:10180633 CLCN4 C>T	X	10180633	10180633	C	T	CLCN4	c.1516C>T	NM_001830.4	NP_001821.2:p.(Pro506Ser)	NC_000023.10:g.10180633C>T	VUS	1 lab	e41af899d3
16:67964637 CTRL C>G	16	67964637	67964637	C	G	CTRL	c.310G>C	NM_001907.3	NP_001898.1:p.(Val104Leu)	NC_000016.9:g.67964637C>G	VUS	1 lab	e41b847db7
2:212426671 ERBB4 A>G	2	212426671	212426671	A	G	ERBB4	c.2444T>C	NM_005235.3	NP_005226.1:p.(Ile815Thr)	NC_000002.11:g.212426671A>G	VUS	1 lab	e41c385ecd
7:114304449 FOXP2 G>A	7	114304449	114304449	G	A	FOXP2	c.1961G>A	NM_014491.4	NP_055306.1:p.(Ser654Asn)	NC_000007.13:g.114304449G>A	VUS	1 lab	2cebe70149
13:92380831 GPC5 C>T	13	92380831	92380831	C	T	GPC5	c.1066C>T	NM_004466.6	NP_004457.1:p.(Pro356Ser)	NC_000013.10:g.92380831C>T	VUS	1 lab	e41f8b11ab
X:48974160 GPKOW C>T	X	48974160	48974160	C	T	GPKOW	c.571G>A	NM_015698.6	NP_056513.2:p.(Val191Met)	NC_000023.10:g.48974160C>T	VUS	1 lab	e45a43183e
2:179458477 TTN A>G	2	179458477	179458477	A	G	TTN	c.58550T>C	NM_001267550.2	NP_001254479.2:p.(Ile19517Thr)	NC_000002.11:g.179458477A>G	VUS	1 lab	e41f9309d4
X:153580297 FLNA G>A	X	153580297	153580297	G	A	FLNA	c.6862C>T	NM_001110556.2	NP_001104026.1:p.(Arg2288Cys)	NC_000023.10:g.153580297G>A	VUS	1 lab	e422b21db4
11:61546700 MYRF T>TTGGCCCA	11	61546700	61546732	T	TTGGCCCA	MYRF	c.2014-9_2014-3dup	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61546726_61546732dup	(Likely) benign	1 lab	e4234ca795
16:2153776 PKD1 C>G	16	2153776	2153776	C	G	PKD1	c.8282G>C	NM_001009944.3	NP_001009944.3:p.(Arg2761Pro)	NC_000016.9:g.2153776C>G	VUS	1 lab	e4237a00b7
8:41790043 KAT6A T>C	8	41790043	41790043	T	C	KAT6A	c.5695A>G	NM_006766.5	NP_006757.2:p.(Met1899Val)	NC_000008.10:g.41790043T>C	VUS	1 lab	2cef62d983
1:155308021 ASH1L C>T	1	155308021	155308021	C	T	ASH1L	c.8662G>A	NM_018489.3	NP_060959.2:p.(Val2888Ile)	NC_000001.10:g.155308021C>T	(Likely) benign	1 lab	e42449d02c
16:30749571 SRCAP G>A	16	30749571	30749571	G	A	SRCAP	c.8210G>A	NM_006662.3	NP_006653.2:p.(Arg2737Gln)	NC_000016.9:g.30749571G>A	(Likely) benign	1 lab	e4246838fd
17:56402197 TSPOAP1 G>A	17	56402197	56402197	G	A	TSPOAP1	c.917C>T	NM_004758.4	NP_004749.2:p.(Ala306Val)	NC_000017.10:g.56402197G>A	(Likely) benign	1 lab	e424cf737a
16:3778359 CREBBP T>C	16	3778359	3778359	T	C	CREBBP	c.6689A>G	NM_004380.3	NP_004371.2:p.(Gln2230Arg)	NC_000016.9:g.3778359T>C	(Likely) benign	1 lab	e425de4b10
5:52978957 NDUFS4 A>ATGACAT	5	52978957	52978966	A	ATGACAT	NDUFS4	c.438_443dup	NM_002495.4	NP_002486.1:p.(Asp146_Ile147dup)	NC_000005.9:g.52978961_52978966dup	VUS	1 lab	e426be3eec
18:44584654 KATNAL2 G>C	18	44584654	44584654	G	C	KATNAL2	c.381G>C	NM_001387690.1	NP_001374619.1:p.(Arg127Ser)	NC_000018.9:g.44584654G>C	(Likely) benign	1 lab	e427e7ca1f
4:26431515 RBPJ A>G	4	26431515	26431515	A	G	RBPJ	c.889-5A>G	NM_015874.6	NP_056958.3:p.?	NC_000004.11:g.26431515A>G	(Likely) benign	1 lab	e4284e1d59
8:97274321 PTDSS1 A>G	8	97274321	97274321	A	G	PTDSS1	c.53A>G	NM_014754.3	NP_055569.1:p.(Lys18Arg)	NC_000008.10:g.97274321A>G	(Likely) benign	1 lab	e428b1c960
X:22237137 PHEX T>A	X	22237137	22237137	T	A	PHEX	c.1701-16T>A	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22237137T>A	(Likely) pathogenic	1 lab	2f8132f3b9
6:51611547 PKHD1 T>C	6	51611547	51611547	T	C	PKHD1	c.9970A>G	NM_138694.4	NP_619639.3:p.(Lys3324Glu)	NC_000006.11:g.51611547T>C	VUS	1 lab	e42b85db14
10:80961376 ZMIZ1 G>A	10	80961376	80961376	G	A	ZMIZ1	c.-14G>A	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.80961376G>A	VUS	1 lab	e42d42f55d
9:36369710 RNF38 T>C	9	36369710	36369710	T	C	RNF38	c.570+6A>G	NM_022781.5	NP_073618.3:p.?	NC_000009.11:g.36369710T>C	VUS	1 lab	e42d5d65d3
8:21986269 HR G>A	8	21986269	21986269	G	A	HR	c.415C>T	NM_005144.5	NP_005135.2:p.(Arg139Trp)	NC_000008.10:g.21986269G>A	VUS	1 lab	e42e174ce4
8:145737836 RECQL4 C>A	8	145737836	145737836	C	A	RECQL4	c.2994G>T	NM_004260.4	NP_004251.4:p.(Trp998Cys)	NC_000008.10:g.145737836C>A	VUS	1 lab	e430114c64
22:50966041 TYMP C>T	22	50966041	50966041	C	T	TYMP	c.622G>A	NM_001953.5	NP_001944.1:p.(Val208Met)	NC_000022.10:g.50966041C>T	(Likely) pathogenic	1 lab	e430168776
5:127483338 SLC12A2 A>G	5	127483338	127483338	A	G	SLC12A2	c.1798A>G	NM_001046.3	NP_001037.1:p.(Thr600Ala)	NC_000005.9:g.127483338A>G	(Likely) benign	1 lab	e430d802e0
2:158182141 ERMN G>A	2	158182141	158182141	G	A	ERMN	c.14C>T	NM_020711.3	NP_065762.1:p.(Pro5Leu)	NC_000002.11:g.158182141G>A	VUS	1 lab	e4311a1be7
17:1554744 PRPF8 G>A	17	1554744	1554744	G	A	PRPF8	c.6614C>T	NM_006445.4	NP_006436.3:p.(Ser2205Phe)	NC_000017.10:g.1554744G>A	VUS	1 lab	2cef9f9601
2:54858214 SPTBN1 A>G	2	54858214	54858214	A	G	SPTBN1	c.3030A>G	NM_003128.3	NP_003119.2:p.(Ala1010=)	NC_000002.11:g.54858214A>G	(Likely) benign	1 lab	e4358df805
9:131710000 NUP188 T>TGGCGGCGGCC	9	131710000	131710011	T	TGGCGGCGGCC	NUP188	c.4_13dup	NM_015354.3	NP_056169.1:p.(Ala5GlyfsTer13)	NC_000009.11:g.131710002_131710011dup	VUS	1 lab	e4359660cc
12:7046026 ATN1 G>T	12	7046026	7046026	G	T	ATN1	c.1596G>T	NM_001940.4	NP_001931.2:p.(Met532Ile)	NC_000012.11:g.7046026G>T	(Likely) benign	1 lab	e43818a9a9
22:20759883 ZNF74 C>T	22	20759883	20759883	C	T	ZNF74	c.560C>T	NM_003426.4	NP_003417.2:p.(Ala187Val)	NC_000022.10:g.20759883C>T	(Likely) benign	1 lab	e438982a02
5:180030262 FLT4 G>A	5	180030262	180030262	G	A	FLT4	c.4022C>T	NM_182925.5	NP_891555.2:p.(Ser1341Leu)	NC_000005.9:g.180030262G>A	(Likely) benign	1 lab	e43920adc7
17:58740501 PPM1D A>G	17	58740501	58740501	A	G	PPM1D	c.1406A>G	NM_003620.4	NP_003611.1:p.(Lys469Arg)	NC_000017.10:g.58740501A>G	(Likely) benign	1 lab	e4395422f6
5:127610364 FBN2 A>G	5	127610364	127610364	A	G	FBN2	c.7606T>C	NM_001999.4	NP_001990.2:p.(Cys2536Arg)	NC_000005.9:g.127610364A>G	VUS	1 lab	e43a77aa7f
5:140188184 PCDHA1 G>C	5	140188184	140188184	G	C	PCDHA1	c.2394+19915G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140188184G>C	VUS	1 lab	e43ac58173
3:142177832 ATR C>T	3	142177832	142177832	C	T	ATR	c.7471G>A	NM_001184.4	NP_001175.2:p.(Val2491Ile)	NC_000003.11:g.142177832C>T	(Likely) benign	1 lab	e43b1e72f9
20:62680799 SOX18 G>T	20	62680799	62680799	G	T	SOX18	c.71C>A	NM_018419.3	NP_060889.1:p.(Pro24Gln)	NC_000020.10:g.62680799G>T	VUS	1 lab	e43dcfb452
3:156261062 SSR3 T>C	3	156261062	156261062	T	C	SSR3	c.492-4A>G	NM_007107.5	NP_009038.1:p.?	NC_000003.11:g.156261062T>C	(Likely) benign	1 lab	e43dfba088
4:170483268 NEK1 C>T	4	170483268	170483268	C	T	NEK1	c.1080+20G>A	NM_001374418.1	NP_001361347.1:p.?	NC_000004.11:g.170483268C>T	(Likely) benign	1 lab	2f83ba7521
9:451977 DOCK8 AT>A	9	451977	452002	AT	A	DOCK8	c.5962-9del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.452002del	(Likely) benign	1 lab	e43e4b5b69
X:123468284 TEX13D A>G	X	123468284	123468284	A	G	TEX13D	c.1517A>G	NM_001355534.2	NP_001342463.1:p.(Asp506Gly)	NC_000023.10:g.123468284A>G	VUS	1 lab	e43e4f3eef
2:179403344 TTN A>C	2	179403344	179403344	A	C	TTN	c.99212T>G	NM_001267550.2	NP_001254479.2:p.(Phe33071Cys)	NC_000002.11:g.179403344A>C	(Likely) benign	1 lab	e440423eb4
X:36007577 CFAP47 TC>T	X	36007577	36007579	TC	T	CFAP47	c.2844+13del	NM_001304548.2	NP_001291477.1:p.?	NC_000023.10:g.36007579del	(Likely) benign	1 lab	e4410449fc
15:89401561 ACAN C>T	15	89401561	89401561	C	T	ACAN	c.5745C>T	NM_001369268.1	NP_001356197.1:p.(Ser1915=)	NC_000015.9:g.89401561C>T	(Likely) benign	1 lab	e443bcba1e
11:62285621 AHNAK T>C	11	62285621	62285621	T	C	AHNAK	c.16268A>G	NM_001620.3	NP_001611.1:p.(Asn5423Ser)	NC_000011.9:g.62285621T>C	(Likely) benign	1 lab	e443f2c0ca
2:96781447 ADRA2B G>A	2	96781447	96781447	G	A	ADRA2B	c.442C>T	NM_000682.7	NP_000673.2:p.(Leu148Phe)	NC_000002.11:g.96781447G>A	VUS	1 lab	e4467811a2
19:54974607 LENG9 C>T	19	54974607	54974607	C	T	LENG9	c.103G>A	NM_001301782.2	NP_001288711.1:p.(Gly35Ser)	NC_000019.9:g.54974607C>T	(Likely) benign	1 lab	e446e10039
7:107580726 LAMB1 C>A	7	107580726	107580726	C	A	LAMB1	c.3469G>T	NM_002291.3	NP_002282.2:p.(Val1157Phe)	NC_000007.13:g.107580726C>A	VUS	1 lab	e447339d11
2:240033330 HDAC4 C>T	2	240033330	240033330	C	T	HDAC4	c.1870G>A	NM_001378414.1	NP_001365343.1:p.(Val624Met)	NC_000002.11:g.240033330C>T	VUS	1 lab	e4476ab154
6:30114897 TRIM40 C>T	6	30114897	30114897	C	T	TRIM40	c.577C>T	NM_001286633.2	NP_001273562.1:p.(Leu193Phe)	NC_000006.11:g.30114897C>T	(Likely) benign	1 lab	e448ec56d4
12:49426729 KMT2D AGCTGCTGCT>A	12	49426729	49426751	AGCTGCTGCT	A	KMT2D	c.11750_11758del	NM_003482.4	NP_003473.3:p.(Gln3917_Gln3919del)	NC_000012.11:g.49426743_49426751del	(Likely) benign	1 lab	e449392fa8
19:50365063 PNKP C>G	19	50365063	50365063	C	G	PNKP	c.1264G>C	NM_007254.4	NP_009185.2:p.(Asp422His)	NC_000019.9:g.50365063C>G	VUS	1 lab	e4494f7ef2
7:31013768 GHRHR C>T	7	31013768	31013768	C	T	GHRHR	c.751+15C>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013768C>T	VUS	1 lab	e4495d63db
12:65152866 GNS A>G	12	65152866	65152866	A	G	GNS	c.191T>C	NM_002076.4	NP_002067.1:p.(Met64Thr)	NC_000012.11:g.65152866A>G	VUS	1 lab	e556556da7
7:99564771 AZGP1 CG>C	7	99564771	99564772	CG	C	AZGP1	c.751del	NM_001185.4	NP_001176.1:p.(Arg251GlyfsTer85)	NC_000007.13:g.99564772del	VUS	1 lab	e449c2191f
17:42992503 GFAP C>T	17	42992503	42992503	C	T	GFAP	c.352G>A	NM_002055.5	NP_002046.1:p.(Ala118Thr)	NC_000017.10:g.42992503C>T	VUS	1 lab	e44a33f724
9:94486901 ROR2 G>T	9	94486901	94486901	G	T	ROR2	c.1875C>A	NM_004560.4	NP_004551.2:p.(Asp625Glu)	NC_000009.11:g.94486901G>T	VUS	1 lab	e44c27eeea
1:45340438 EIF2B3 G>A	1	45340438	45340438	G	A	EIF2B3	c.1114C>T	NM_020365.5	NP_065098.1:p.(Arg372Cys)	NC_000001.10:g.45340438G>A	VUS	1 lab	e45a437cbc
22:21083746 PI4KA G>A	22	21083746	21083746	G	A	PI4KA	c.4537C>T	NM_058004.4	NP_477352.3:p.(Pro1513Ser)	NC_000022.10:g.21083746G>A	VUS	1 lab	e44f7b0455
2:16082703 MYCN G>A	2	16082703	16082703	G	A	MYCN	c.517G>A	NM_005378.6	NP_005369.2:p.(Ala173Thr)	NC_000002.11:g.16082703G>A	(Likely) benign	1 lab	e44fec8185
1:201869716 LMOD1 C>T	1	201869716	201869716	C	T	LMOD1	c.425G>A	NM_012134.3	NP_036266.2:p.(Gly142Asp)	NC_000001.10:g.201869716C>T	(Likely) benign	1 lab	e44ff845f0
1:248129195 OR2AK2 C>T	1	248129195	248129195	C	T	OR2AK2	c.517C>T	NM_001004491.2	NP_001004491.2:p.(Leu173Phe)	NC_000001.10:g.248129195C>T	(Likely) benign	1 lab	e452f3403c
11:103058146 DYNC2H1 C>T	11	103058146	103058146	C	T	DYNC2H1	c.6971C>T	NM_001377.3	NP_001368.2:p.(Ser2324Phe)	NC_000011.9:g.103058146C>T	VUS	1 lab	e453e659ad
3:119084258 ARHGAP31 C>T	3	119084258	119084258	C	T	ARHGAP31	c.196C>T	NM_020754.4	NP_065805.2:p.(Arg66Trp)	NC_000003.11:g.119084258C>T	VUS	1 lab	e453edea0f
9:123290097 CDK5RAP2 G>T	9	123290097	123290097	G	T	CDK5RAP2	c.986C>A	NM_018249.6	NP_060719.4:p.(Ser329Ter)	NC_000009.11:g.123290097G>T	(Likely) benign	1 lab	e45521e573
9:140952560 CACNA1B G>A	9	140952560	140952560	G	A	CACNA1B	c.4166G>A	NM_000718.4	NP_000709.1:p.(Arg1389His)	NC_000009.11:g.140952560G>A	(Likely) benign	1 lab	e458193180
1:43888448 SZT2 A>C	1	43888448	43888448	A	C	SZT2	c.1931A>C	NM_001365999.1	NP_001352928.1:p.(Asp644Ala)	NC_000001.10:g.43888448A>C	VUS	1 lab	e45859b4c5
9:140611570 EHMT1 C>T	9	140611570	140611570	C	T	EHMT1	c.578C>T	NM_024757.5	NP_079033.4:p.(Ala193Val)	NC_000009.11:g.140611570C>T	(Likely) benign	1 lab	e45899818f
1:208224711 PLXNA2 C>T	1	208224711	208224711	C	T	PLXNA2	c.3051G>A	NM_025179.4	NP_079455.3:p.(Pro1017=)	NC_000001.10:g.208224711C>T	VUS	1 lab	e4598546ae
2:238249664 COL6A3 A>G	2	238249664	238249664	A	G	COL6A3	c.7895T>C	NM_004369.4	NP_004360.2:p.(Leu2632Pro)	NC_000002.11:g.238249664A>G	VUS	1 lab	e45ae38bf5
3:132257014 DNAJC13 T>C	3	132257014	132257014	T	C	DNAJC13	c.6626-6T>C	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132257014T>C	(Likely) benign	1 lab	e45debc55c
16:28508410 APOBR C>A	16	28508410	28508410	C	A	APOBR	c.2048C>A	NM_018690.4	NP_061160.3:p.(Thr683Asn)	NC_000016.9:g.28508410C>A	VUS	1 lab	e45e8302e0
17:48153686 ITGA3 CCAGGA>C	17	48153686	48153693	CCAGGA	C	ITGA3	c.1675-1_1678del	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48153689_48153693del	(Likely) pathogenic	1 lab	e45efa249d
10:89711888 PTEN C>G	10	89711888	89711888	C	G	PTEN	c.506C>G	NM_000314.8	NP_000305.3:p.(Pro169Arg)	NC_000010.10:g.89711888C>G	(Likely) pathogenic	1 lab	e45f257248
5:176694893 NSD1 T>C	5	176694893	176694893	T	C	NSD1	c.5303+174T>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176694893T>C	(Likely) benign	1 lab	e4610f46b6
13:31231886 USPL1 C>T	13	31231886	31231886	C	T	USPL1	c.1672C>T	NM_005800.5	NP_005791.3:p.(Arg558Cys)	NC_000013.10:g.31231886C>T	VUS	1 lab	e462f32ec7
11:46886693 LRP4 T>C	11	46886693	46886693	T	C	LRP4	c.5132A>G	NM_002334.4	NP_002325.2:p.(Asn1711Ser)	NC_000011.9:g.46886693T>C	VUS	1 lab	e4636238ad
2:55119771 EML6 T>A	2	55119771	55119771	T	A	EML6	c.2720T>A	NM_001039753.4	NP_001034842.2:p.(Phe907Tyr)	NC_000002.11:g.55119771T>A	(Likely) benign	1 lab	e463e1e45d
2:168102223 XIRP2 G>A	2	168102223	168102223	G	A	XIRP2	c.4321G>A	NM_152381.6	NP_689594.4:p.(Val1441Ile)	NC_000002.11:g.168102223G>A	VUS	1 lab	e465b4e21a
16:88782636 PIEZO1 C>T	16	88782636	88782636	C	T	PIEZO1	c.7099G>A	NM_001142864.4	NP_001136336.2:p.(Glu2367Lys)	NC_000016.9:g.88782636C>T	(Likely) benign	1 lab	e4665e6a6e
1:9795966 CLSTN1 C>T	1	9795966	9795966	C	T	CLSTN1	c.1711G>A	NM_001009566.3	NP_001009566.1:p.(Glu571Lys)	NC_000001.10:g.9795966C>T	(Likely) benign	1 lab	e4677bae2d
17:3445867 TRPV3 C>T	17	3445867	3445867	C	T	TRPV3	c.592G>A	NM_145068.4	NP_659505.1:p.(Asp198Asn)	NC_000017.10:g.3445867C>T	(Likely) benign	1 lab	e467c27548
21:38444614 PIGP A>G	21	38444614	38444614	A	G	PIGP	c.82+120T>C	NM_153682.3	NP_710149.1:p.?	NC_000021.8:g.38444614A>G	(Likely) benign	1 lab	e46857dffd
5:171766121 SH3PXD2B A>G	5	171766121	171766121	A	G	SH3PXD2B	c.1988T>C	NM_001017995.3	NP_001017995.1:p.(Ile663Thr)	NC_000005.9:g.171766121A>G	VUS	1 lab	e46b90ac1a
17:79503666 FSCN2 C>G	17	79503666	79503666	C	G	FSCN2	c.1124C>G	NM_012418.4	NP_036550.1:p.(Thr375Ser)	NC_000017.10:g.79503666C>G	VUS	1 lab	e46bf82fe6
12:133241972 POLE T>C	12	133241972	133241972	T	C	POLE	c.2384A>G	NM_006231.4	NP_006222.2:p.(Lys795Arg)	NC_000012.11:g.133241972T>C	(Likely) benign	1 lab	e46cb644f1
15:99452112 IGF1R C>T	15	99452112	99452112	C	T	IGF1R	c.1446C>T	NM_000875.5	NP_000866.1:p.(Asn482=)	NC_000015.9:g.99452112C>T	(Likely) benign	1 lab	e46d813db4
17:58740785 PPM1D G>C	17	58740785	58740785	G	C	PPM1D	c.1690G>C	NM_003620.4	NP_003611.1:p.(Ala564Pro)	NC_000017.10:g.58740785G>C	(Likely) benign	1 lab	e46db62fb6
X:19377139 PDHA1 A>AAAGGTACAGTCACTTGTTCATGGTGG	X	19377139	19377165	A	AAAGGTACAGTCACTTGTTCATGGTGG	PDHA1	c.1006_1008+23dup	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19377140_19377165dup	VUS	1 lab	e46f06c1b5
11:118342566 KMT2A T>G	11	118342566	118342566	T	G	KMT2A	c.692T>G	NM_001197104.2	NP_001184033.1:p.(Val231Gly)	NC_000011.9:g.118342566T>G	VUS	1 lab	e473c8a20e
11:71146714 DHCR7 C>T	11	71146714	71146714	C	T	DHCR7	c.1135G>A	NM_001360.3	NP_001351.2:p.(Glu379Lys)	NC_000011.9:g.71146714C>T	VUS	1 lab	e473d347e8
17:78263551 RNF213 G>C	17	78263551	78263551	G	C	RNF213	c.1027G>C	NM_001256071.3	NP_001243000.2:p.(Glu343Gln)	NC_000017.10:g.78263551G>C	VUS	1 lab	e473e68b10
X:62885821 ARHGEF9 C>T	X	62885821	62885821	C	T	ARHGEF9	c.1022G>A	NM_001353921.2	NP_001340850.1:p.(Arg341His)	NC_000023.10:g.62885821C>T	(Likely) pathogenic	1 lab	e47449cbd1
6:5187091 LYRM4 G>A	6	5187091	5187091	G	A	LYRM4	c.207+29760C>T	NM_020408.6	NP_065141.3:p.?	NC_000006.11:g.5187091G>A	(Likely) benign	1 lab	e4769f4217
7:151810468 GALNT11 G>A	7	151810468	151810468	G	A	GALNT11	c.1218G>A	NM_022087.4	NP_071370.2:p.(Trp406Ter)	NC_000007.13:g.151810468G>A	VUS	1 lab	e476c1f89a
14:52477656 NID2 G>A	14	52477656	52477656	G	A	NID2	c.3660C>T	NM_007361.4	NP_031387.3:p.(Arg1220=)	NC_000014.8:g.52477656G>A	VUS	1 lab	e4776fd42e
11:108236233 ATM T>G	11	108236233	108236233	T	G	ATM	c.9169T>G	NM_000051.4	NP_000042.3:p.(Ter3057GlyextTer29)	NC_000011.9:g.108236233T>G	(Likely) pathogenic	1 lab	e478191be1
10:74937685 FAM149B1 C>T	10	74937685	74937685	C	T	FAM149B1	c.234C>T	NM_173348.2	NP_775483.1:p.(Gly78=)	NC_000010.10:g.74937685C>T	VUS	1 lab	e47a070eb8
16:14020561 ERCC4 G>T	16	14020561	14020561	G	T	ERCC4	c.532G>T	NM_005236.3	NP_005227.1:p.(Val178Leu)	NC_000016.9:g.14020561G>T	VUS	1 lab	e47a295ba6
1:186282807 TPR A>G	1	186282807	186282807	A	G	TPR	c.*296T>C	NM_003292.3	NP_003283.2:p.?	NC_000001.10:g.186282807A>G	(Likely) benign	1 lab	e47a3e4402
6:137193349 PEX7 A>G	6	137193349	137193349	A	G	PEX7	c.761A>G	NM_000288.4	NP_000279.1:p.(His254Arg)	NC_000006.11:g.137193349A>G	VUS	1 lab	e47b1049ed
1:152277275 FLG GC>G	1	152277275	152277278	GC	G	FLG	c.10086del	NM_002016.2	NP_002007.1:p.(His3364IlefsTer27)	NC_000001.10:g.152277278del	VUS	1 lab	e47beca8e9
12:7045890 ATN1 A>AGC	12	7045890	7045891	A	AGC	ATN1	c.1460_1461insGC	NM_001940.4	NP_001931.2:p.(Gln488HisfsTer53)	NC_000012.11:g.7045890_7045891insGC	(Likely) benign	1 lab	e47d56b8e7
X:54989791 PFKFB1 G>A	X	54989791	54989791	G	A	PFKFB1	c.122C>T	NM_002625.4	NP_002616.2:p.(Ser41Phe)	NC_000023.10:g.54989791G>A	VUS	1 lab	e47d66bc28
X:75648822 MAGEE1 A>G	X	75648822	75648822	A	G	MAGEE1	c.499A>G	NM_020932.3	NP_065983.1:p.(Thr167Ala)	NC_000023.10:g.75648822A>G	(Likely) benign	1 lab	e47e13782a
6:117243237 RFX6 G>T	6	117243237	117243237	G	T	RFX6	c.1360G>T	NM_173560.4	NP_775831.2:p.(Asp454Tyr)	NC_000006.11:g.117243237G>T	VUS	1 lab	e480953d1b
18:7014025 LAMA1 G>A	18	7014025	7014025	G	A	LAMA1	c.3152C>T	NM_005559.4	NP_005550.2:p.(Ser1051Leu)	NC_000018.9:g.7014025G>A	VUS	1 lab	e480b45d08
11:71238369 KRTAP5-7 A>G	11	71238369	71238369	A	G	KRTAP5-7	c.23A>G	NM_001012503.2	NP_001012521.1:p.(Glu8Gly)	NC_000011.9:g.71238369A>G	(Likely) benign	1 lab	e480e1f4b1
8:144991868 PLEC G>A	8	144991868	144991868	G	A	PLEC	c.12121C>T	NM_201384.3	NP_958786.1:p.(Arg4041Cys)	NC_000008.10:g.144991868G>A	VUS	1 lab	e4810da99a
3:180364935 CCDC39 G>C	3	180364935	180364935	G	C	CCDC39	c.1459C>G	NM_181426.2	NP_852091.1:p.(Leu487Val)	NC_000003.11:g.180364935G>C	(Likely) benign	1 lab	e4833f64e9
6:75797401 COL12A1 G>C	6	75797401	75797401	G	C	COL12A1	c.9073C>G	NM_004370.6	NP_004361.3:p.(Pro3025Ala)	NC_000006.11:g.75797401G>C	VUS	1 lab	e483963a16
1:6272006 RNF207 G>A	1	6272006	6272006	G	A	RNF207	c.1189G>A	NM_207396.3	NP_997279.2:p.(Val397Ile)	NC_000001.10:g.6272006G>A	VUS	1 lab	2f8885d4eb
21:47841888 PCNT C>T	21	47841888	47841888	C	T	PCNT	c.7029C>T	NM_006031.6	NP_006022.3:p.(Asp2343=)	NC_000021.8:g.47841888C>T	(Likely) benign	1 lab	e4889a9335
10:104263946 SUFU A>C	10	104263946	104263946	A	C	SUFU	c.37A>C	NM_016169.4	NP_057253.2:p.(Thr13Pro)	NC_000010.10:g.104263946A>C	(Likely) benign	1 lab	e4889c4188
9:43625112 SPATA31A6 CT>C	9	43625112	43625113	CT	C	SPATA31A6	c.3574del	NM_001145196.1	NP_001138668.1:p.(Arg1192AspfsTer15)	NC_000009.11:g.43625113del	VUS	1 lab	e488a1f1cc
2:233414160 TIGD1 A>G	2	233414160	233414160	A	G	TIGD1	c.433T>C	NM_145702.4	NP_663748.1:p.(Phe145Leu)	NC_000002.11:g.233414160A>G	(Likely) benign	1 lab	e488e2fbc3
X:57358061 FAAH2 G>A	X	57358061	57358061	G	A	FAAH2	c.443G>A	NM_174912.4	NP_777572.2:p.(Arg148His)	NC_000023.10:g.57358061G>A	VUS	1 lab	e4ad68d047
7:94057075 COL1A2 T>C	7	94057075	94057075	T	C	COL1A2	c.3404T>C	NM_000089.4	NP_000080.2:p.(Val1135Ala)	NC_000007.13:g.94057075T>C	VUS	1 lab	e48b67fce1
2:74757811 HTRA2 C>G	2	74757811	74757811	C	G	HTRA2	c.574C>G	NM_013247.5	NP_037379.1:p.(Leu192Val)	NC_000002.11:g.74757811C>G	VUS	1 lab	e48b93097e
16:86601344 FOXC2 C>CGCG	16	86601344	86601347	C	CGCG	FOXC2	c.404_406dup	NM_005251.3	NP_005242.1:p.(Arg135_Asp136insGly)	NC_000016.9:g.86601345_86601347dup	VUS	1 lab	e48e1eaa82
21:38567985 TTC3 G>A	21	38567985	38567985	G	A	TTC3	c.5227G>A	NM_001330683.2	NP_001317612.1:p.(Glu1743Lys)	NC_000021.8:g.38567985G>A	(Likely) benign	1 lab	e48e7e9d27
1:111494171 LRIF1 A>G	1	111494171	111494171	A	G	LRIF1	c.1335T>C	NM_018372.4	NP_060842.3:p.(Asn445=)	NC_000001.10:g.111494171A>G	VUS	1 lab	e48ec277b5
17:10541745 MYH3 C>A	17	10541745	10541745	C	A	MYH3	c.3344G>T	NM_002470.4	NP_002461.2:p.(Arg1115Leu)	NC_000017.10:g.10541745C>A	VUS	1 lab	e48f38727f
X:48926270 CCDC120 TG>T	X	48926270	48926274	TG	T	CCDC120	c.*80del	NM_001163321.4	NP_001156793.2:p.?	NC_000023.10:g.48926274del	VUS	1 lab	e49240ec68
9:98775007 ERCC6L2 G>A	9	98775007	98775007	G	A	ERCC6L2	c.4175G>A	NM_020207.7	NP_064592.3:p.(Arg1392His)	NC_000009.11:g.98775007G>A	VUS	1 lab	e4931f0ed3
4:79308843 FRAS1 G>C	4	79308843	79308843	G	C	FRAS1	c.3963G>C	NM_025074.7	NP_079350.5:p.(Lys1321Asn)	NC_000004.11:g.79308843G>C	(Likely) benign	1 lab	e493df48bf
7:117359586 CTTNBP2 G>C	7	117359586	117359586	G	C	CTTNBP2	c.4616C>G	NM_033427.3	NP_219499.1:p.(Ser1539Cys)	NC_000007.13:g.117359586G>C	VUS	1 lab	2cf15af787
2:231363252 SP100 TAA>T	2	231363252	231363265	TAA	T	SP100	c.1720+14_1720+15del	NM_001080391.2	NP_001073860.1:p.?	NC_000002.11:g.231363264_231363265del	VUS	1 lab	e495aa4049
19:16436208 KLF2 C>T	19	16436208	16436208	C	T	KLF2	c.257C>T	NM_016270.4	NP_057354.1:p.(Ala86Val)	NC_000019.9:g.16436208C>T	(Likely) benign	1 lab	e495d17324
2:172644160 SLC25A12 G>T	2	172644160	172644160	G	T	SLC25A12	c.1756C>A	NM_003705.5	NP_003696.2:p.(Arg586=)	NC_000002.11:g.172644160G>T	(Likely) benign	1 lab	e4968d2cb3
X:77913148 RTL3 T>C	X	77913148	77913148	T	C	RTL3	c.770A>G	NM_152694.3	NP_689907.1:p.(Gln257Arg)	NC_000023.10:g.77913148T>C	VUS	1 lab	e4bd495f31
16:2162809 PKD1 C>T	16	2162809	2162809	C	T	PKD1	c.3141G>A	NM_001009944.3	NP_001009944.3:p.(Ser1047=)	NC_000016.9:g.2162809C>T	(Likely) benign	1 lab	e496c583ae
19:15366408 BRD4 G>A	19	15366408	15366408	G	A	BRD4	c.1752-5C>T	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15366408G>A	(Likely) benign	1 lab	e496d6f82a
3:139077636 COPB2 C>T	3	139077636	139077636	C	T	COPB2	c.2503G>A	NM_004766.3	NP_004757.1:p.(Val835Ile)	NC_000003.11:g.139077636C>T	VUS	1 lab	2cf1e2d5b0
18:72997751 TSHZ1 C>A	18	72997751	72997751	C	A	TSHZ1	c.389C>A	NM_001308210.2	NP_001295139.1:p.(Ser130Tyr)	NC_000018.9:g.72997751C>A	(Likely) benign	1 lab	e49918949f
7:27224296 HOXA11 G>C	7	27224296	27224296	G	C	HOXA11	c.468C>G	NM_005523.6	NP_005514.1:p.(Ser156=)	NC_000007.13:g.27224296G>C	(Likely) benign	1 lab	e4993ec951
15:93489295 CHD2 A>G	15	93489295	93489295	A	G	CHD2	c.1226A>G	NM_001271.4	NP_001262.3:p.(Asn409Ser)	NC_000015.9:g.93489295A>G	VUS	1 lab	e49990b7ec
X:106144731 RIPPLY1 G>A	X	106144731	106144731	G	A	RIPPLY1	c.269C>T	NM_138382.3	NP_612391.1:p.(Ala90Val)	NC_000023.10:g.106144731G>A	(Likely) benign	1 lab	e49aaa29ec
6:56480816 DST T>C	6	56480816	56480816	T	C	DST	c.4930-1534A>G	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56480816T>C	VUS	1 lab	e49ac6f4d0
1:185959460 HMCN1 G>A	1	185959460	185959460	G	A	HMCN1	c.3262G>A	NM_031935.3	NP_114141.2:p.(Glu1088Lys)	NC_000001.10:g.185959460G>A	VUS	1 lab	e49c4076c8
17:29657325 NF1 A>G	17	29657325	29657325	A	G	NF1	c.5621A>G	NM_001042492.3	NP_001035957.1:p.(Tyr1874Cys)	NC_000017.10:g.29657325A>G	VUS	1 lab	e49d535e47
2:213403192 ERBB4 C>A	2	213403192	213403192	C	A	ERBB4	c.63G>T	NM_005235.3	NP_005226.1:p.(Gln21His)	NC_000002.11:g.213403192C>A	(Likely) benign	1 lab	e49e01f3c2
2:220423056 OBSL1 C>T	2	220423056	220423056	C	T	OBSL1	c.3352G>A	NM_015311.3	NP_056126.1:p.(Gly1118Arg)	NC_000002.11:g.220423056C>T	VUS	1 lab	e49e73de57
2:218682489 TNS1 G>A	2	218682489	218682489	G	A	TNS1	c.4566C>T	NM_001387777.1	NP_001374706.1:p.(Gly1522=)	NC_000002.11:g.218682489G>A	VUS	1 lab	e49ebccc5f
4:6302938 WFS1 C>T	4	6302938	6302938	C	T	WFS1	c.1416C>T	NM_006005.3	NP_005996.2:p.(Pro472=)	NC_000004.11:g.6302938C>T	(Likely) benign	1 lab	e49fcdaf64
6:145160423 UTRN C>T	6	145160423	145160423	C	T	UTRN	c.10177+3C>T	NM_007124.3	NP_009055.2:p.?	NC_000006.11:g.145160423C>T	VUS	1 lab	e4a00b6d6c
19:50918112 POLD1 C>T	19	50918112	50918112	C	T	POLD1	c.2429C>T	NM_002691.4	NP_002682.2:p.(Ala810Val)	NC_000019.9:g.50918112C>T	VUS	1 lab	2cf2a23bbd
7:48318518 ABCA13 T>A	7	48318518	48318518	T	A	ABCA13	c.7727T>A	NM_152701.5	NP_689914.3:p.(Leu2576Ter)	NC_000007.13:g.48318518T>A	VUS	1 lab	e4a0e260b6
7:86547833 ELAPOR2 C>T	7	86547833	86547833	C	T	ELAPOR2	c.1518G>A	NM_001142749.3	NP_001136221.1:p.(Thr506=)	NC_000007.13:g.86547833C>T	VUS	1 lab	e4a2f4d5c6
1:152282101 FLG T>C	1	152282101	152282101	T	C	FLG	c.5261A>G	NM_002016.2	NP_002007.1:p.(Gln1754Arg)	NC_000001.10:g.152282101T>C	(Likely) benign	1 lab	e4a3556e8e
10:70231546 DNA2 ACAGCTCCGCCGG>A	10	70231546	70231568	ACAGCTCCGCCGG	A	DNA2	c.64_74+1del	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70231557_70231568del	(Likely) benign	1 lab	e4a5612765
20:126106 DEFB126 A>T	20	126106	126106	A	T	DEFB126	c.109A>T	NM_030931.4	NP_112193.1:p.(Lys37Ter)	NC_000020.10:g.126106A>T	(Likely) benign	1 lab	e4a682c891
15:51830521 DMXL2 G>C	15	51830521	51830521	G	C	DMXL2	c.1234C>G	NM_001378457.1	NP_001365386.1:p.(Arg412Gly)	NC_000015.9:g.51830521G>C	VUS	1 lab	e4a6a6f516
19:12187020 ZNF844 G>A	19	12187020	12187020	G	A	ZNF844	c.1085G>A	NM_001136501.3	NP_001129973.1:p.(Arg362Lys)	NC_000019.9:g.12187020G>A	(Likely) benign	1 lab	e4a75e1fc1
17:7124115 ACADVL A>G	17	7124115	7124115	A	G	ACADVL	c.308A>G	NM_000018.4	NP_000009.1:p.(Lys103Arg)	NC_000017.10:g.7124115A>G	(Likely) benign	1 lab	e4a76a256b
6:121602785 TBC1D32 T>A	6	121602785	121602785	T	A	TBC1D32	c.1513A>T	NM_152730.6	NP_689943.4:p.(Ser505Cys)	NC_000006.11:g.121602785T>A	(Likely) benign	1 lab	e4aa00c78b
15:91346819 BLM G>A	15	91346819	91346819	G	A	BLM	c.3427G>A	NM_000057.4	NP_000048.1:p.(Glu1143Lys)	NC_000015.9:g.91346819G>A	VUS	1 lab	e4aaa1dfb2
10:112340655 SMC3 A>AT	10	112340655	112340659	A	AT	SMC3	c.430-3dup	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112340659dup	(Likely) benign	1 lab	e4aaa4c3f8
16:1507458 CLCN7 A>G	16	1507458	1507458	A	G	CLCN7	c.739-120T>C	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1507458A>G	(Likely) benign	1 lab	e4ab43148c
4:1806650 FGFR3 G>A	4	1806650	1806650	G	A	FGFR3	c.1366G>A	NM_000142.5	NP_000133.1:p.(Glu456Lys)	NC_000004.11:g.1806650G>A	VUS	1 lab	e4abd87698
15:89415269 ACAN G>C	15	89415269	89415269	G	C	ACAN	c.7255G>C	NM_001369268.1	NP_001356197.1:p.(Asp2419His)	NC_000015.9:g.89415269G>C	VUS	1 lab	e4b108ba1f
2:197172300 HECW2 G>A	2	197172300	197172300	G	A	HECW2	c.2586-343C>T	NM_001348768.2	NP_001335697.1:p.?	NC_000002.11:g.197172300G>A	(Likely) benign	1 lab	e4b10e4604
5:176692278 NSD1 TAA>T	5	176692278	176692289	TAA	T	NSD1	c.5147-2275_5147-2274del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176692288_176692289del	(Likely) benign	1 lab	e4b1c04699
19:1506135 ADAMTSL5 C>T	19	1506135	1506135	C	T	ADAMTSL5	c.1295G>A	NM_213604.3	NP_998769.2:p.(Arg432His)	NC_000019.9:g.1506135C>T	VUS	1 lab	e5c1c106c9
19:12763072 MAN2B1 A>G	19	12763072	12763072	A	G	MAN2B1	c.1941T>C	NM_000528.4	NP_000519.2:p.(Ser647=)	NC_000019.9:g.12763072A>G	(Likely) benign	1 lab	e4b31d3fe3
1:197411373 CRB1 T>A	1	197411373	197411373	T	A	CRB1	c.3956T>A	NM_201253.3	NP_957705.1:p.(Phe1319Tyr)	NC_000001.10:g.197411373T>A	VUS	1 lab	e4b3400978
4:79322210 FRAS1 C>T	4	79322210	79322210	C	T	FRAS1	c.4129+169C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79322210C>T	(Likely) benign	1 lab	2f9157ad82
17:37821651 TCAP G>A	17	37821651	37821651	G	A	TCAP	c.39G>A	NM_003673.4	NP_003664.1:p.(Glu13=)	NC_000017.10:g.37821651G>A	(Likely) benign	1 lab	2cf2bb992c
16:1391195 BAIAP3 C>T	16	1391195	1391195	C	T	BAIAP3	c.534C>T	NM_001199097.2	NP_001186026.1:p.(Asn178=)	NC_000016.9:g.1391195C>T	(Likely) benign	1 lab	e4b4b52f38
1:24022328 RPL11 G>A	1	24022328	24022328	G	A	RPL11	c.437G>A	NM_000975.5	NP_000966.2:p.(Arg146His)	NC_000001.10:g.24022328G>A	VUS	1 lab	e4b5c8480f
16:51174125 SALL1 A>G	16	51174125	51174125	A	G	SALL1	c.2008T>C	NM_002968.3	NP_002959.2:p.(Phe670Leu)	NC_000016.9:g.51174125A>G	(Likely) benign	1 lab	e4b5f95f6c
3:52409413 DNAH1 C>G	3	52409413	52409413	C	G	DNAH1	c.7143C>G	NM_015512.5	NP_056327.4:p.(Ile2381Met)	NC_000003.11:g.52409413C>G	(Likely) benign	1 lab	e4b659f67b
X:7243544 STS T>G	X	7243544	7243544	T	G	STS	c.1241+5T>G	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7243544T>G	(Likely) benign	1 lab	e4b67399ec
3:134256020 CEP63 C>G	3	134256020	134256020	C	G	CEP63	c.465C>G	NM_001353108.3	NP_001340037.1:p.(Asp155Glu)	NC_000003.11:g.134256020C>G	(Likely) benign	1 lab	e4bb03801a
1:161127064 UFC1 A>G	1	161127064	161127064	A	G	UFC1	c.212A>G	NM_016406.4	NP_057490.2:p.(Tyr71Cys)	NC_000001.10:g.161127064A>G	VUS	1 lab	e4bbb84e43
9:139333341 INPP5E G>T	9	139333341	139333341	G	T	INPP5E	c.531C>A	NM_019892.6	NP_063945.2:p.(Ala177=)	NC_000009.11:g.139333341G>T	(Likely) benign	1 lab	2f8b4a16ed
22:20302992 DGCR6L T>C	22	20302992	20302992	T	C	DGCR6L	c.380A>G	NM_033257.4	NP_150282.2:p.(Glu127Gly)	NC_000022.10:g.20302992T>C	(Likely) benign	1 lab	e4bd9c30ce
2:220353572 SPEG C>T	2	220353572	220353572	C	T	SPEG	c.8099C>T	NM_005876.5	NP_005867.3:p.(Pro2700Leu)	NC_000002.11:g.220353572C>T	VUS	1 lab	e4be81670e
4:106157698 TET2 T>C	4	106157698	106157698	T	C	TET2	c.2599T>C	NM_001127208.3	NP_001120680.1:p.(Tyr867His)	NC_000004.11:g.106157698T>C	(Likely) benign	1 lab	e4beb7a531
11:57995449 OR10Q1 TTGTTCC>T	11	57995449	57995456	TTGTTCC	T	OR10Q1	c.893_898del	NM_001004471.2	NP_001004471.1:p.(Arg298_Asn299del)	NC_000011.9:g.57995451_57995456del	(Likely) benign	1 lab	e4bf0b172c
1:152279051 FLG G>C	1	152279051	152279051	G	C	FLG	c.8311C>G	NM_002016.2	NP_002007.1:p.(Gln2771Glu)	NC_000001.10:g.152279051G>C	(Likely) benign	1 lab	e4c0343937
17:61994732 GH1 G>T	17	61994732	61994732	G	T	GH1	c.591C>A	NM_000515.5	NP_000506.2:p.(Asp197Glu)	NC_000017.10:g.61994732G>T	VUS	1 lab	e515919267
11:55872802 OR8H2 C>G	11	55872802	55872802	C	G	OR8H2	c.284C>G	NM_001386064.1	NP_001372993.1:p.(Thr95Arg)	NC_000011.9:g.55872802C>G	(Likely) benign	1 lab	e4c037475f
21:47836463 PCNT C>T	21	47836463	47836463	C	T	PCNT	c.6631C>T	NM_006031.6	NP_006022.3:p.(Pro2211Ser)	NC_000021.8:g.47836463C>T	(Likely) benign	1 lab	e4c0e97d4d
15:94841864 MCTP2 T>G	15	94841864	94841864	T	G	MCTP2	c.370T>G	NM_001385001.1	NP_001371930.1:p.(Tyr124Asp)	NC_000015.9:g.94841864T>G	(Likely) benign	1 lab	e4c23e2b6d
22:30189604 ASCC2 G>GCTGTGCCGCCA	22	30189604	30189618	G	GCTGTGCCGCCA	ASCC2	c.1739_1749dup	NM_032204.5	NP_115580.2:p.(Arg584TrpfsTer69)	NC_000022.10:g.30189608_30189618dup	VUS	1 lab	e4c23ef3f7
7:100856214 PLOD3 T>C	7	100856214	100856214	T	C	PLOD3	c.788A>G	NM_001084.5	NP_001075.1:p.(Asn263Ser)	NC_000007.13:g.100856214T>C	VUS	1 lab	e4c32e9a40
1:204170873 GOLT1A G>T	1	204170873	204170873	G	T	GOLT1A	c.184C>A	NM_198447.2	NP_940849.1:p.(Arg62=)	NC_000001.10:g.204170873G>T	(Likely) benign	1 lab	e4c41b4ee5
3:196381480 NRROS G>A	3	196381480	196381480	G	A	NRROS	c.70G>A	NM_198565.3	NP_940967.1:p.(Gly24Arg)	NC_000003.11:g.196381480G>A	(Likely) benign	1 lab	e4c4372703
21:40186202 ETS2 G>A	21	40186202	40186202	G	A	ETS2	c.190G>A	NM_005239.6	NP_005230.1:p.(Ala64Thr)	NC_000021.8:g.40186202G>A	(Likely) benign	1 lab	e4c44a1ecd
20:4158174 SMOX C>T	20	4158174	4158174	C	T	SMOX	c.385C>T	NM_175839.3	NP_787033.1:p.(Arg129Cys)	NC_000020.10:g.4158174C>T	(Likely) benign	1 lab	e4c6ade4a4
10:97917726 ZNF518A T>G	10	97917726	97917726	T	G	ZNF518A	c.1647T>G	NM_001330736.2	NP_001317665.1:p.(Ser549Arg)	NC_000010.10:g.97917726T>G	VUS	1 lab	e4c6ff1c4d
10:28142295 ODAD2 A>ATTAATAAC	10	28142295	28142297	A	ATTAATAAC	ODAD2	c.3021+7258_3021+7259insGTTATTAA	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28142296_28142297insTAATAACT	(Likely) benign	1 lab	e4c813c336
3:52409307 DNAH1 C>T	3	52409307	52409307	C	T	DNAH1	c.7037C>T	NM_015512.5	NP_056327.4:p.(Pro2346Leu)	NC_000003.11:g.52409307C>T	VUS	1 lab	e4c94bcfc0
X:54957262 TRO G>A	X	54957262	54957262	G	A	TRO	c.4105G>A	NM_001039705.3	NP_001034794.1:p.(Gly1369Ser)	NC_000023.10:g.54957262G>A	VUS	1 lab	e4c97add97
12:13716226 GRIN2B C>A	12	13716226	13716226	C	A	GRIN2B	c.3946G>T	NM_000834.5	NP_000825.2:p.(Ala1316Ser)	NC_000012.11:g.13716226C>A	(Likely) benign	1 lab	e4cabfaec8
3:136323192 STAG1 T>G	3	136323192	136323192	T	G	STAG1	c.256A>C	NM_005862.3	NP_005853.2:p.(Thr86Pro)	NC_000003.11:g.136323192T>G	VUS	1 lab	e4cc2fc8b6
2:179616040 TTN T>C	2	179616040	179616040	T	C	TTN	c.11311+1811A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616040T>C	VUS	1 lab	e4ceee66df
4:6303227 WFS1 G>A	4	6303227	6303227	G	A	WFS1	c.1705G>A	NM_006005.3	NP_005996.2:p.(Ala569Thr)	NC_000004.11:g.6303227G>A	VUS	1 lab	e4cf0262cd
11:103175354 DYNC2H1 G>A	11	103175354	103175354	G	A	DYNC2H1	c.11287G>A	NM_001377.3	NP_001368.2:p.(Ala3763Thr)	NC_000011.9:g.103175354G>A	VUS	1 lab	e4d38d1cc9
X:154124407 F8 C>G	X	154124407	154124407	C	G	F8	c.6374G>C	NM_000132.3	NP_000123.1:p.(Ser2125Thr)	NC_000023.10:g.154124407C>G	(Likely) pathogenic	1 lab	2f8ef58b77
2:182766649 ITPRID2 A>G	2	182766649	182766649	A	G	ITPRID2	c.869A>G	NM_001130445.3	NP_001123917.1:p.(Asn290Ser)	NC_000002.11:g.182766649A>G	VUS	1 lab	e4d56ec46d
X:69615838 KIF4A T>A	X	69615838	69615838	T	A	KIF4A	c.2428T>A	NM_012310.5	NP_036442.3:p.(Ser810Thr)	NC_000023.10:g.69615838T>A	VUS	1 lab	e4d5af5bcc
3:14206314 XPC T>C	3	14206314	14206314	T	C	XPC	c.899A>G	NM_004628.5	NP_004619.3:p.(His300Arg)	NC_000003.11:g.14206314T>C	VUS	1 lab	e5b953cc48
6:87994208 GJB7 TAAAAC>T	6	87994208	87994215	TAAAAC	T	GJB7	c.418_422del	NM_198568.3	NP_940970.1:p.(Val140IlefsTer3)	NC_000006.11:g.87994211_87994215del	(Likely) benign	1 lab	e4d6bcea5e
15:99500654 IGF1R C>T	15	99500654	99500654	C	T	IGF1R	c.4087C>T	NM_000875.5	NP_000866.1:p.(Gln1363Ter)	NC_000015.9:g.99500654C>T	VUS	1 lab	e4d72ac281
2:163130299 IFIH1 A>G	2	163130299	163130299	A	G	IFIH1	c.2454+6T>C	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163130299A>G	(Likely) benign	1 lab	e4d7ac83df
X:107977708 IRS4 T>G	X	107977708	107977708	T	G	IRS4	c.1867A>C	NM_001379150.1	NP_001366079.1:p.(Lys623Gln)	NC_000023.10:g.107977708T>G	(Likely) benign	1 lab	e4d8b212d2
8:144993548 PLEC G>T	8	144993548	144993548	G	T	PLEC	c.10441C>A	NM_201384.3	NP_958786.1:p.(His3481Asn)	NC_000008.10:g.144993548G>T	VUS	1 lab	e4dc8e100f
1:16353020 CLCNKA T>TC	1	16353020	16353023	T	TC	CLCNKA	c.499-8dup	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16353023dup	(Likely) benign	1 lab	e4dd94b193
5:176562934 NSD1 C>T	5	176562934	176562934	C	T	NSD1	c.830C>T	NM_022455.5	NP_071900.2:p.(Ser277Phe)	NC_000005.9:g.176562934C>T	VUS	1 lab	e4e1027c03
7:128850884 SMO C>T	7	128850884	128850884	C	T	SMO	c.1731C>T	NM_005631.5	NP_005622.1:p.(His577=)	NC_000007.13:g.128850884C>T	(Likely) benign	1 lab	e4e13a3e12
21:47838182 PCNT C>G	21	47838182	47838182	C	G	PCNT	c.6986C>G	NM_006031.6	NP_006022.3:p.(Pro2329Arg)	NC_000021.8:g.47838182C>G	(Likely) benign	1 lab	e4e26dff73
12:32903728 YARS2 C>T	12	32903728	32903728	C	T	YARS2	c.1028G>A	NM_001040436.3	NP_001035526.1:p.(Arg343Gln)	NC_000012.11:g.32903728C>T	VUS	1 lab	e4e2dd6d09
11:32414213 WT1 T>C	11	32414213	32414213	T	C	WT1				NC_000011.9:g.32414213T>C	VUS	1 lab	2f933dca9b
1:39752992 MACF1 C>T	1	39752992	39752992	C	T	MACF1	c.1543C>T	NM_001394062.1	NP_001380991.1:p.(Arg515Cys)	NC_000001.10:g.39752992C>T	VUS	1 lab	e4e8293ae1
8:22023036 BMP1 C>G	8	22023036	22023036	C	G	BMP1	c.118C>G	NM_006129.5	NP_006120.1:p.(Pro40Ala)	NC_000008.10:g.22023036C>G	VUS	1 lab	e4e82d5c86
2:158655993 ACVR1 C>T	2	158655993	158655993	C	T	ACVR1	c.13G>A	NM_001111067.4	NP_001104537.1:p.(Val5Met)	NC_000002.11:g.158655993C>T	VUS	1 lab	e4e878b8b4
11:65635441 EFEMP2 C>T	11	65635441	65635441	C	T	EFEMP2	c.1061G>A	NM_016938.5	NP_058634.4:p.(Arg354Gln)	NC_000011.9:g.65635441C>T	VUS	1 lab	e4eb119ca9
8:41547759 ANK1 G>A	8	41547759	41547759	G	A	ANK1	c.4090C>T	NM_000037.4	NP_000028.3:p.(Pro1364Ser)	NC_000008.10:g.41547759G>A	VUS	1 lab	e4ec2a31a2
1:228456289 OBSCN G>A	1	228456289	228456289	G	A	OBSCN	c.5472G>A	NM_001271223.2	NP_001258152.2:p.(Ala1824=)	NC_000001.10:g.228456289G>A	(Likely) benign	1 lab	2f93d79b40
20:60899513 LAMA5 C>A	20	60899513	60899513	C	A	LAMA5	c.5627G>T	NM_005560.6	NP_005551.3:p.(Gly1876Val)	NC_000020.10:g.60899513C>A	(Likely) benign	1 lab	e4ecb61b1b
7:151877887 KMT2C G>A	7	151877887	151877887	G	A	KMT2C	c.7058C>T	NM_170606.3	NP_733751.2:p.(Ser2353Phe)	NC_000007.13:g.151877887G>A	(Likely) benign	1 lab	e4ecf4a83c
X:107380393 ATG4A A>C	X	107380393	107380393	A	C	ATG4A	c.540A>C	NM_052936.5	NP_443168.2:p.(Glu180Asp)	NC_000023.10:g.107380393A>C	(Likely) benign	1 lab	2f95920eff
21:40717199 HMGN1 T>C	21	40717199	40717199	T	C	HMGN1	c.128A>G	NM_004965.7	NP_004956.5:p.(Asp43Gly)	NC_000021.8:g.40717199T>C	(Likely) benign	1 lab	e4ef1cb23d
2:27806009 ZNF512 C>T	2	27806009	27806009	C	T	ZNF512	c.30C>T	NM_032434.4	NP_115810.2:p.(Ala10=)	NC_000002.11:g.27806009C>T	VUS	1 lab	e4ef222365
11:17414687 ABCC8 A>T	11	17414687	17414687	A	T	ABCC8	c.4609-12T>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17414687A>T	(Likely) benign	1 lab	e4ef69929f
9:139299638 ENTR1 G>A	9	139299638	139299638	G	A	ENTR1	c.910C>T	NM_001039707.2	NP_001034796.1:p.(Arg304Trp)	NC_000009.11:g.139299638G>A	VUS	1 lab	e4f1bbe508
1:155261703 PKLR G>A	1	155261703	155261703	G	A	PKLR	c.1462C>T	NM_000298.6	NP_000289.1:p.(Arg488Ter)	NC_000001.10:g.155261703G>A	(Likely) pathogenic	1 lab	2f9812a4b3
17:78327331 RNF213 G>A	17	78327331	78327331	G	A	RNF213	c.10443G>A	NM_001256071.3	NP_001243000.2:p.(Ala3481=)	NC_000017.10:g.78327331G>A	(Likely) benign	1 lab	e4f361910e
6:75843651 COL12A1 G>A	6	75843651	75843651	G	A	COL12A1	c.5587C>T	NM_004370.6	NP_004361.3:p.(Arg1863Cys)	NC_000006.11:g.75843651G>A	VUS	1 lab	e4f38e89ba
3:41841779 ULK4 G>A	3	41841779	41841779	G	A	ULK4	c.1855C>T	NM_017886.4	NP_060356.2:p.(Arg619Cys)	NC_000003.11:g.41841779G>A	(Likely) benign	1 lab	e4f39c5bf5
11:108119704 ATM C>G	11	108119704	108119704	C	G	ATM	c.1110C>G	NM_000051.4	NP_000042.3:p.(Tyr370Ter)	NC_000011.9:g.108119704C>G	(Likely) pathogenic	1 lab	e4f3ca6085
16:89760594 CDK10 G>T	16	89760594	89760594	G	T	CDK10	c.622G>T	NM_052988.5	NP_443714.3:p.(Glu208Ter)	NC_000016.9:g.89760594G>T	(Likely) pathogenic	1 lab	e4f4f506c4
15:45702687 AFG2B G>A	15	45702687	45702687	G	A	AFG2B	c.1393G>A	NM_024063.3	NP_076968.2:p.(Glu465Lys)	NC_000015.9:g.45702687G>A	VUS	1 lab	e4f6321439
1:13413982 PRAMEF10 G>A	1	13413982	13413982	G	A	PRAMEF10	c.925G>A	NM_001039361.4	NP_001034450.3:p.(Asp309Asn)	NC_000001.10:g.13413982G>A	VUS	1 lab	e4f9d019df
16:70796789 VAC14 G>A	16	70796789	70796789	G	A	VAC14	c.1300C>T	NM_018052.5	NP_060522.3:p.(Arg434Trp)	NC_000016.9:g.70796789G>A	VUS	1 lab	e4fb15e06c
5:35779244 SPEF2 C>T	5	35779244	35779244	C	T	SPEF2	c.4243C>T	NM_024867.4	NP_079143.3:p.(Arg1415Cys)	NC_000005.9:g.35779244C>T	VUS	1 lab	e4fb521123
17:40651046 ATP6V0A1 T>G	17	40651046	40651046	T	G	ATP6V0A1	c.1665T>G	NM_001130021.3	NP_001123493.1:p.(Ser555Arg)	NC_000017.10:g.40651046T>G	VUS	1 lab	e4fbb7cd11
8:41791903 KAT6A C>CA	8	41791903	41791904	C	CA	KAT6A	c.3834dup	NM_006766.5	NP_006757.2:p.(Val1279CysfsTer34)	NC_000008.10:g.41791904dup	(Likely) pathogenic	1 lab	e4fbfe88d1
17:12656451 MYOCD G>A	17	12656451	12656451	G	A	MYOCD	c.1846G>A	NM_001146312.3	NP_001139784.1:p.(Glu616Lys)	NC_000017.10:g.12656451G>A	VUS	1 lab	e4fd525347
12:124267780 DNAH10 C>T	12	124267780	124267780	C	T	DNAH10	c.968C>T	NM_001372106.1	NP_001359035.1:p.(Ala323Val)	NC_000012.11:g.124267780C>T	(Likely) benign	1 lab	e4fdd00fbf
12:56814742 TIMELESS C>T	12	56814742	56814742	C	T	TIMELESS	c.3040+5G>A	NM_003920.5	NP_003911.2:p.?	NC_000012.11:g.56814742C>T	(Likely) benign	1 lab	e5087caa81
12:88448136 CEP290 G>A	12	88448136	88448136	G	A	CEP290	c.7015C>T	NM_025114.4	NP_079390.3:p.(Arg2339Trp)	NC_000012.11:g.88448136G>A	VUS	1 lab	e4fe9d44fd
3:3195658 CRBN C>G	3	3195658	3195658	C	G	CRBN	c.937G>C	NM_016302.4	NP_057386.2:p.(Asp313His)	NC_000003.11:g.3195658C>G	VUS	1 lab	e4ff1371bc
12:2224458 CACNA1C C>T	12	2224458	2224458	C	T	CACNA1C	c.118C>T	NM_000719.7	NP_000710.5:p.(Pro40Ser)	NC_000012.11:g.2224458C>T	VUS	1 lab	e5009db8d8
3:15123866 RBSN C>T	3	15123866	15123866	C	T	RBSN	c.840+8G>A	NM_022340.4	NP_071735.2:p.?	NC_000003.11:g.15123866C>T	VUS	1 lab	e500c366be
1:197073381 ASPM C>T	1	197073381	197073381	C	T	ASPM	c.5000G>A	NM_018136.5	NP_060606.3:p.(Arg1667His)	NC_000001.10:g.197073381C>T	VUS	1 lab	e500d96120
1:120464998 NOTCH2 T>C	1	120464998	120464998	T	C	NOTCH2	c.5074A>G	NM_024408.4	NP_077719.2:p.(Ile1692Val)	NC_000001.10:g.120464998T>C	(Likely) benign	1 lab	e502a77648
2:240048264 HDAC4 G>A	2	240048264	240048264	G	A	HDAC4	c.1421C>T	NM_001378414.1	NP_001365343.1:p.(Pro474Leu)	NC_000002.11:g.240048264G>A	VUS	1 lab	e502acd9c0
X:48386774 EBP G>A	X	48386774	48386774	G	A	EBP	c.622G>A	NM_006579.3	NP_006570.1:p.(Val208Met)	NC_000023.10:g.48386774G>A	(Likely) benign	1 lab	e5049194c4
2:196892753 DNAH7 TAA>T	2	196892753	196892755	TAA	T	DNAH7	c.415_416del	NM_018897.3	NP_061720.2:p.(Leu139ArgfsTer6)	NC_000002.11:g.196892754_196892755del	VUS	1 lab	e5049f0553
10:70192041 DNA2 G>A	10	70192041	70192041	G	A	DNA2	c.1795C>T	NM_001080449.3	NP_001073918.2:p.(Arg599Cys)	NC_000010.10:g.70192041G>A	VUS	1 lab	e504ba8b84
1:21889658 ALPL T>A	1	21889658	21889658	T	A	ALPL	c.353T>A	NM_000478.6	NP_000469.3:p.(Leu118Gln)	NC_000001.10:g.21889658T>A	VUS	1 lab	e5067ae679
10:37430720 ANKRD30A G>A	10	37430720	37430720	G	A	ANKRD30A	c.895G>A	NM_052997.3	NP_443723.3:p.(Val299Met)	NC_000010.10:g.37430720G>A	VUS	1 lab	e506ba6e62
11:32124876 RCN1 A>T	11	32124876	32124876	A	T	RCN1	c.738A>T	NM_002901.4	NP_002892.1:p.(Leu246Phe)	NC_000011.9:g.32124876A>T	(Likely) benign	1 lab	e5071dfdfe
17:78313118 RNF213 C>T	17	78313118	78313118	C	T	RNF213	c.4951C>T	NM_001256071.3	NP_001243000.2:p.(Leu1651Phe)	NC_000017.10:g.78313118C>T	(Likely) benign	1 lab	e508ac94ea
19:46273821 DMPK G>C	19	46273821	46273821	G	C	DMPK	c.1815C>G	NM_004409.5	NP_004400.4:p.(Gly605=)	NC_000019.9:g.46273821G>C	(Likely) benign	1 lab	e5093cea2d
19:46915774 CCDC8 G>T	19	46915774	46915774	G	T	CCDC8	c.294C>A	NM_032040.5	NP_114429.2:p.(Asp98Glu)	NC_000019.9:g.46915774G>T	(Likely) benign	1 lab	e50bc4e9a2
7:87160618 ABCB1 A>C	7	87160618	87160618	A	C	ABCB1	c.2677T>G	NM_000927.5	NP_000918.2:p.(Ser893Ala)	NC_000007.13:g.87160618A>C	(Likely) benign	1 lab	2cf682ab27
10:124248968 HTRA1 G>A	10	124248968	124248968	G	A	HTRA1	c.603G>A	NM_002775.5	NP_002766.1:p.(Val201=)	NC_000010.10:g.124248968G>A	(Likely) benign	1 lab	e50dd877c5
17:41256233 BRCA1 TC>T	17	41256233	41256234	TC	T	BRCA1	c.346del	NM_007294.4	NP_009225.1:p.(Glu116AsnfsTer3)	NC_000017.10:g.41256234del	(Likely) pathogenic	1 lab	e50f247845
12:113754463 SLC8B1 T>G	12	113754463	113754463	T	G	SLC8B1	c.863-2A>C	NM_001358345.2	NP_001345274.1:p.?	NC_000012.11:g.113754463T>G	VUS	1 lab	e50fba6033
4:5617220 EVC2 G>A	4	5617220	5617220	G	A	EVC2	c.2758C>T	NM_147127.5	NP_667338.3:p.(Leu920Phe)	NC_000004.11:g.5617220G>A	(Likely) benign	1 lab	e511b30708
X:41469196 CASK G>C	X	41469196	41469196	G	C	CASK	c.1116C>G	NM_001367721.1	NP_001354650.1:p.(His372Gln)	NC_000023.10:g.41469196G>C	VUS	1 lab	e512f4466d
11:20660045 SLC6A5 C>G	11	20660045	20660045	C	G	SLC6A5	c.1910C>G	NM_004211.5	NP_004202.4:p.(Ala637Gly)	NC_000011.9:g.20660045C>G	VUS	1 lab	e513a7f52a
16:89347635 ANKRD11 G>A	16	89347635	89347635	G	A	ANKRD11	c.5315C>T	NM_013275.6	NP_037407.4:p.(Ser1772Leu)	NC_000016.9:g.89347635G>A	(Likely) benign	1 lab	e5150b2176
5:127697538 FBN2 A>G	5	127697538	127697538	A	G	FBN2	c.2432T>C	NM_001999.4	NP_001990.2:p.(Ile811Thr)	NC_000005.9:g.127697538A>G	VUS	1 lab	e5172ed55f
12:2800264 CACNA1C G>A	12	2800264	2800264	G	A	CACNA1C	c.6316G>A	NM_000719.7	NP_000710.5:p.(Asp2106Asn)	NC_000012.11:g.2800264G>A	(Likely) benign	1 lab	e517da0bcd
1:78401671 NEXN C>G	1	78401671	78401671	C	G	NEXN	c.1415C>G	NM_144573.3	NP_653174.3:p.(Ala472Gly)	NC_000001.10:g.78401671C>G	VUS	1 lab	2f9954e0c8
2:170028581 LRP2 C>T	2	170028581	170028581	C	T	LRP2	c.11207G>A	NM_004525.3	NP_004516.2:p.(Arg3736His)	NC_000002.11:g.170028581C>T	VUS	1 lab	e5196121cf
11:125875672 CDON G>T	11	125875672	125875672	G	T	CDON	c.1833C>A	NM_001378964.1	NP_001365893.1:p.(Tyr611Ter)	NC_000011.9:g.125875672G>T	VUS	1 lab	e51a1d7c79
11:71209482 NADSYN1 G>A	11	71209482	71209482	G	A	NADSYN1	c.1978G>A	NM_018161.5	NP_060631.2:p.(Glu660Lys)	NC_000011.9:g.71209482G>A	VUS	1 lab	e51a1e88c8
7:100284943 GIGYF1 G>A	7	100284943	100284943	G	A	GIGYF1	c.460C>T	NM_001375765.1	NP_001362694.1:p.(Arg154Cys)	NC_000007.13:g.100284943G>A	VUS	1 lab	e51dbd3b37
19:18375346 IQCN G>A	19	18375346	18375346	G	A	IQCN	c.3004C>T	NM_001145304.2	NP_001138776.1:p.(Gln1002Ter)	NC_000019.9:g.18375346G>A	VUS	1 lab	e51e6d6dbc
1:16377508 CLCNKB A>G	1	16377508	16377508	A	G	CLCNKB	c.1192A>G	NM_000085.5	NP_000076.2:p.(Ile398Val)	NC_000001.10:g.16377508A>G	(Likely) benign	1 lab	e51e813dca
16:2259410 MLST8 G>A	16	2259410	2259410	G	A	MLST8	c.*532G>A	NM_022372.6	NP_071767.3:p.?	NC_000016.9:g.2259410G>A	(Likely) benign	1 lab	e51f22076d
16:1573644 IFT140 G>GGGC	16	1573644	1573647	G	GGGC	IFT140	c.3325_3327dup	NM_014714.4	NP_055529.2:p.(Ala1109dup)	NC_000016.9:g.1573645_1573647dup	VUS	1 lab	e51fa28f65
12:107155117 RFX4 C>T	12	107155117	107155117	C	T	RFX4	c.2078C>T	NM_213594.3	NP_998759.1:p.(Ala693Val)	NC_000012.11:g.107155117C>T	(Likely) benign	1 lab	e5203f828c
8:68395848 CPA6 A>G	8	68395848	68395848	A	G	CPA6	c.838+155T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68395848A>G	(Likely) benign	1 lab	2f9c206859
8:119122949 EXT1 C>T	8	119122949	119122949	C	T	EXT1	c.337G>A	NM_000127.3	NP_000118.2:p.(Gly113Ser)	NC_000008.10:g.119122949C>T	(Likely) benign	1 lab	e52112605a
20:34021723 GDF5 G>A	20	34021723	34021723	G	A	GDF5	c.1490C>T	NM_000557.5	NP_000548.2:p.(Ser497Leu)	NC_000020.10:g.34021723G>A	VUS	1 lab	e52170c2b2
3:119084180 ARHGAP31 A>G	3	119084180	119084180	A	G	ARHGAP31	c.118A>G	NM_020754.4	NP_065805.2:p.(Ser40Gly)	NC_000003.11:g.119084180A>G	VUS	1 lab	e5226c1687
16:1557372 TELO2 G>A	16	1557372	1557372	G	A	TELO2	c.2291+1G>A	NM_016111.4	NP_057195.2:p.?	NC_000016.9:g.1557372G>A	(Likely) pathogenic	1 lab	e523658095
16:57804522 KIFC3 C>T	16	57804522	57804522	C	T	KIFC3	c.856G>A	NM_001130100.2	NP_001123572.1:p.(Val286Met)	NC_000016.9:g.57804522C>T	VUS	1 lab	e5236dbea3
16:30016641 INO80E C>T	16	30016641	30016641	C	T	INO80E	c.613C>T	NM_173618.3	NP_775889.1:p.(Pro205Ser)	NC_000016.9:g.30016641C>T	(Likely) benign	1 lab	e52428e782
X:53263411 IQSEC2 G>A	X	53263411	53263411	G	A	IQSEC2	c.4457C>T	NM_001111125.3	NP_001104595.1:p.(Thr1486Ile)	NC_000023.10:g.53263411G>A	VUS	1 lab	e524bdbfdd
8:144994175 PLEC G>A	8	144994175	144994175	G	A	PLEC	c.9814C>T	NM_201384.3	NP_958786.1:p.(Arg3272Cys)	NC_000008.10:g.144994175G>A	(Likely) benign	1 lab	e52791743e
18:47488736 MYO5B T>C	18	47488736	47488736	T	C	MYO5B	c.1445A>G	NM_001080467.3	NP_001073936.1:p.(Gln482Arg)	NC_000018.9:g.47488736T>C	VUS	1 lab	e527d4d859
11:556049 LMNTD2 G>A	11	556049	556049	G	A	LMNTD2	c.1324C>T	NM_173573.3	NP_775844.2:p.(Pro442Ser)	NC_000011.9:g.556049G>A	VUS	1 lab	e527fde93a
1:10699167 CASZ1 CTCGTCG>C	1	10699167	10699181	CTCGTCG	C	CASZ1	c.5106_5111del	NM_001079843.3	NP_001073312.1:p.(Asp1702_Asp1703del)	NC_000001.10:g.10699176_10699181del	VUS	1 lab	e5281aea11
16:84900577 CRISPLD2 C>G	16	84900577	84900577	C	G	CRISPLD2	c.784C>G	NM_031476.4	NP_113664.1:p.(His262Asp)	NC_000016.9:g.84900577C>G	(Likely) benign	1 lab	e5286e81dc
3:168861568 MECOM T>C	3	168861568	168861568	T	C	MECOM	c.428A>G	NM_004991.4	NP_004982.2:p.(Asp143Gly)	NC_000003.11:g.168861568T>C	VUS	1 lab	e528af14db
8:38109424 DDHD2 C>CT	8	38109424	38109427	C	CT	DDHD2	c.1345-3dup	NM_015214.3	NP_056029.2:p.?	NC_000008.10:g.38109427dup	(Likely) benign	1 lab	e52afd963b
9:135946657 CEL GC>G	9	135946657	135946665	GC	G	CEL	c.1776del	NM_001807.6	NP_001798.3:p.(Val593CysfsTer111)	NC_000009.11:g.135946665del	(Likely) pathogenic	1 lab	e52b14896d
17:80574406 WDR45B C>T	17	80574406	80574406	C	T	WDR45B	c.922G>A	NM_019613.4	NP_062559.2:p.(Val308Ile)	NC_000017.10:g.80574406C>T	VUS	1 lab	e52b2bab36
15:48829946 FBN1 T>C	15	48829946	48829946	T	C	FBN1	c.598A>G	NM_000138.5	NP_000129.3:p.(Ser200Gly)	NC_000015.9:g.48829946T>C	VUS	1 lab	e52c62312c
14:78709618 NRXN3 C>T	14	78709618	78709618	C	T	NRXN3	c.182C>T	NM_001330195.2	NP_001317124.1:p.(Thr61Met)	NC_000014.8:g.78709618C>T	VUS	1 lab	e52fabd8a2
6:32188010 NOTCH4 T>A	6	32188010	32188010	T	A	NOTCH4	c.1211A>T	NM_004557.4	NP_004548.3:p.(Asp404Val)	NC_000006.11:g.32188010T>A	(Likely) benign	1 lab	e52fb7cfbb
12:13715932 GRIN2B CCCCCG>C	12	13715932	13715939	CCCCCG	C	GRIN2B	c.4235_4239del	NM_000834.5	NP_000825.2:p.(Ala1412GlyfsTer45)	NC_000012.11:g.13715935_13715939del	(Likely) pathogenic	1 lab	e5310261ae
12:6638743 NCAPD2 C>T	12	6638743	6638743	C	T	NCAPD2	c.3637C>T	NM_014865.4	NP_055680.3:p.(Arg1213Trp)	NC_000012.11:g.6638743C>T	VUS	1 lab	e531b1d2e6
9:34371675 MYORG C>T	9	34371675	34371675	C	T	MYORG	c.1267G>A	NM_020702.5	NP_065753.2:p.(Val423Met)	NC_000009.11:g.34371675C>T	VUS	1 lab	e531e40e96
16:1575216 IFT140 T>C	16	1575216	1575216	T	C	IFT140	c.2864+16A>G	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1575216T>C	VUS	1 lab	e5353a00e5
16:2112532 TSC2 C>T	16	2112532	2112532	C	T	TSC2	c.1292C>T	NM_000548.5	NP_000539.2:p.(Ala431Val)	NC_000016.9:g.2112532C>T	(Likely) benign	1 lab	e53799e5c2
20:18505076 SEC23B G>A	20	18505076	18505076	G	A	SEC23B	c.367-1G>A	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18505076G>A	VUS	1 lab	e5384129d5
9:125582414 PDCL G>A	9	125582414	125582414	G	A	PDCL	c.856C>T	NM_005388.5	NP_005379.3:p.(Arg286Cys)	NC_000009.11:g.125582414G>A	(Likely) benign	1 lab	e5386eaff9
1:92730186 GLMN C>T	1	92730186	92730186	C	T	GLMN	c.1224G>A	NM_053274.3	NP_444504.1:p.(Leu408=)	NC_000001.10:g.92730186C>T	VUS	1 lab	e5389fe232
16:2140658 PKD1 G>A	16	2140658	2140658	G	A	PKD1	c.12138+17C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140658G>A	(Likely) benign	1 lab	e538fe0d9f
X:40495957 CXorf38 G>A	X	40495957	40495957	G	A	CXorf38	c.629C>T	NM_144970.3	NP_659407.1:p.(Thr210Met)	NC_000023.10:g.40495957G>A	(Likely) benign	1 lab	e539402215
X:114426120 RBMXL3 G>A	X	114426120	114426120	G	A	RBMXL3	c.2116G>A	NM_001145346.2	NP_001138818.1:p.(Gly706Ser)	NC_000023.10:g.114426120G>A	VUS	1 lab	e539b8a55d
2:73115628 SPR T>C	2	73115628	73115628	T	C	SPR	c.490T>C	NM_003124.5	NP_003115.1:p.(Phe164Leu)	NC_000002.11:g.73115628T>C	VUS	1 lab	e53c41a5a0
1:57219539 FYB2 C>A	1	57219539	57219539	C	A	FYB2	c.1200G>T	NM_001004303.5	NP_001004303.3:p.(Lys400Asn)	NC_000001.10:g.57219539C>A	(Likely) benign	1 lab	e53cc843e0
19:18893890 COMP C>T	19	18893890	18893890	C	T	COMP	c.2201G>A	NM_000095.3	NP_000086.2:p.(Trp734Ter)	NC_000019.9:g.18893890C>T	(Likely) pathogenic	1 lab	e53de4e5bd
11:71941485 INPPL1 C>T	11	71941485	71941485	C	T	INPPL1	c.1170C>T	NM_001567.4	NP_001558.3:p.(Arg390=)	NC_000011.9:g.71941485C>T	VUS	1 lab	e53df39ed1
15:72193666 MYO9A G>A	15	72193666	72193666	G	A	MYO9A	c.3016C>T	NM_006901.4	NP_008832.2:p.(Gln1006Ter)	NC_000015.9:g.72193666G>A	VUS	1 lab	e53df908de
15:77329389 PSTPIP1 C>G	15	77329389	77329389	C	G	PSTPIP1	c.1123C>G	NM_003978.5	NP_003969.2:p.(Pro375Ala)	NC_000015.9:g.77329389C>G	(Likely) benign	1 lab	e54071384c
1:17279950 CROCC C>A	1	17279950	17279950	C	A	CROCC	c.3160C>A	NM_014675.5	NP_055490.4:p.(Leu1054Ile)	NC_000001.10:g.17279950C>A	VUS	1 lab	e5409c1737
12:49392880 DDN C>T	12	49392880	49392880	C	T	DDN	c.191G>A	NM_015086.2	NP_055901.2:p.(Arg64His)	NC_000012.11:g.49392880C>T	VUS	1 lab	e540f31a13
5:127727761 FBN2 C>T	5	127727761	127727761	C	T	FBN2	c.1553G>A	NM_001999.4	NP_001990.2:p.(Arg518Gln)	NC_000005.9:g.127727761C>T	(Likely) benign	1 lab	e5455bdfd6
4:183713987 TENM3 G>C	4	183713987	183713987	G	C	TENM3	c.6162G>C	NM_001080477.4	NP_001073946.1:p.(Glu2054Asp)	NC_000004.11:g.183713987G>C	VUS	1 lab	2cf76f9acb
X:47272407 ZNF157 G>A	X	47272407	47272407	G	A	ZNF157	c.935G>A	NM_003446.4	NP_003437.2:p.(Arg312His)	NC_000023.10:g.47272407G>A	VUS	1 lab	e54a16f0bc
X:131220008 FRMD7 C>T	X	131220008	131220008	C	T	FRMD7	c.437G>A	NM_194277.3	NP_919253.1:p.(Arg146Gln)	NC_000023.10:g.131220008C>T	(Likely) benign	1 lab	e54b4f8629
9:139403416 NOTCH1 T>C	9	139403416	139403416	T	C	NOTCH1	c.3077A>G	NM_017617.5	NP_060087.3:p.(Asp1026Gly)	NC_000009.11:g.139403416T>C	VUS	1 lab	2f9d64c382
4:1803334 FGFR3 C>T	4	1803334	1803334	C	T	FGFR3	c.616-13C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803334C>T	(Likely) benign	1 lab	e54c10e8fd
1:1271859 DVL1 C>T	1	1271859	1271859	C	T	DVL1	c.1751G>A	NM_001330311.2	NP_001317240.1:p.(Arg584Gln)	NC_000001.10:g.1271859C>T	VUS	1 lab	e54c27d8bd
13:35733585 NBEA G>C	13	35733585	35733585	G	C	NBEA	c.3277G>C	NM_001385012.1	NP_001371941.1:p.(Glu1093Gln)	NC_000013.10:g.35733585G>C	VUS	1 lab	e5501d7080
6:43006193 CUL7 C>G	6	43006193	43006193	C	G	CUL7	c.4585G>C	NM_014780.5	NP_055595.2:p.(Asp1529His)	NC_000006.11:g.43006193C>G	VUS	1 lab	e5550fbbe9
1:110607420 ALX3 C>G	1	110607420	110607420	C	G	ALX3	c.383G>C	NM_006492.3	NP_006483.2:p.(Cys128Ser)	NC_000001.10:g.110607420C>G	(Likely) benign	1 lab	e555840bef
1:152328663 FLG2 TTGTCCAAAACCAGAGGATTGTCCTGAGACAGACCCATGC>T	1	152328663	152328749	TTGTCCAAAACCAGAGGATTGTCCTGAGACAGACCCATGC	T	FLG2	c.1560_1598del	NM_001014342.3	NP_001014364.1:p.(Gly522_His534del)	NC_000001.10:g.152328711_152328749del	VUS	1 lab	2cf8e50139
1:145522675 PEX11B C>A	1	145522675	145522675	C	A	PEX11B	c.536C>A	NM_003846.3	NP_003837.1:p.(Pro179Gln)	NC_000001.10:g.145522675C>A	VUS	1 lab	e557a85108
X:50052813 CCNB3 A>T	X	50052813	50052813	A	T	CCNB3	c.1644A>T	NM_033031.3	NP_149020.2:p.(Glu548Asp)	NC_000023.10:g.50052813A>T	VUS	1 lab	e558fd14a7
1:87380745 HS2ST1 C>T	1	87380745	87380745	C	T	HS2ST1	c.26C>T	NM_012262.4	NP_036394.1:p.(Pro9Leu)	NC_000001.10:g.87380745C>T	VUS	1 lab	e55a23f2fc
1:23637261 HNRNPR A>T	1	23637261	23637261	A	T	HNRNPR	c.1588T>A	NM_005826.5	NP_005817.1:p.(Ser530Thr)	NC_000001.10:g.23637261A>T	VUS	1 lab	e55c7c7837
1:12064101 MFN2 G>A	1	12064101	12064101	G	A	MFN2	c.1213G>A	NM_014874.4	NP_055689.1:p.(Asp405Asn)	NC_000001.10:g.12064101G>A	VUS	1 lab	e55c9a6308
11:4116267 RRM1 G>C	11	4116267	4116267	G	C	RRM1	c.19+6G>C	NM_001033.5	NP_001024.1:p.?	NC_000011.9:g.4116267G>C	(Likely) benign	1 lab	e55dabe698
8:38275834 FGFR1 G>A	8	38275834	38275834	G	A	FGFR1	c.1342C>T	NM_023110.3	NP_075598.2:p.(Arg448Trp)	NC_000008.10:g.38275834G>A	VUS	1 lab	e55db7fb39
3:172166054 GHSR G>C	3	172166054	172166054	G	C	GHSR	c.150C>G	NM_198407.2	NP_940799.1:p.(Cys50Trp)	NC_000003.11:g.172166054G>C	VUS	1 lab	e55efe377a
1:158151379 CD1D C>T	1	158151379	158151379	C	T	CD1D	c.196C>T	NM_001371762.2	NP_001358691.1:p.(Arg66Cys)	NC_000001.10:g.158151379C>T	(Likely) benign	1 lab	e55f587cb2
16:68109280 DUS2 T>G	16	68109280	68109280	T	G	DUS2	c.955T>G	NM_017803.5	NP_060273.1:p.(Phe319Val)	NC_000016.9:g.68109280T>G	VUS	1 lab	e56094840f
5:132221994 AFF4 A>G	5	132221994	132221994	A	G	AFF4	c.3099+8T>C	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132221994A>G	(Likely) benign	1 lab	e560967d40
17:42991382 GFAP T>A	17	42991382	42991382	T	A	GFAP	c.522+14A>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991382T>A	VUS	1 lab	e561ccf6f2
14:64066302 WDR89 C>T	14	64066302	64066302	C	T	WDR89	c.359G>A	NM_080666.4	NP_542397.1:p.(Ser120Asn)	NC_000014.8:g.64066302C>T	VUS	1 lab	e56306ace9
9:16727818 BNC2 G>C	9	16727818	16727818	G	C	BNC2	c.307C>G	NM_017637.6	NP_060107.3:p.(Leu103Val)	NC_000009.11:g.16727818G>C	VUS	1 lab	e563d9ddf9
2:26671561 DRC1 G>C	2	26671561	26671561	G	C	DRC1	c.1399G>C	NM_145038.5	NP_659475.2:p.(Glu467Gln)	NC_000002.11:g.26671561G>C	(Likely) benign	1 lab	e564c22fa7
11:32417943 WT1 C>G	11	32417943	32417943	C	G	WT1	c.1124G>C	NM_024426.6	NP_077744.4:p.(Arg375Pro)	NC_000011.9:g.32417943C>G	(Likely) benign	1 lab	e5658597ca
8:95952408 TP53INP1 CTCT>C	8	95952408	95952426	CTCT	C	TP53INP1	c.150_152del	NM_033285.4	NP_150601.1:p.(Glu52del)	NC_000008.10:g.95952424_95952426del	VUS	1 lab	e5679fa00c
18:56056335 NEDD4L G>A	18	56056335	56056335	G	A	NEDD4L	c.2566G>A	NM_001144967.3	NP_001138439.1:p.(Gly856Ser)	NC_000018.9:g.56056335G>A	(Likely) benign	1 lab	e568b478b0
8:23560484 NKX2-6 G>T	8	23560484	23560484	G	T	NKX2-6	c.386C>A	NM_001136271.3	NP_001129743.2:p.(Ala129Glu)	NC_000008.10:g.23560484G>T	(Likely) benign	1 lab	e5697552b6
7:78131047 MAGI2 G>A	7	78131047	78131047	G	A	MAGI2	c.812C>T	NM_012301.4	NP_036433.2:p.(Pro271Leu)	NC_000007.13:g.78131047G>A	VUS	1 lab	e569eb8b0c
11:46898367 LRP4 A>T	11	46898367	46898367	A	T	LRP4	c.3292T>A	NM_002334.4	NP_002325.2:p.(Ser1098Thr)	NC_000011.9:g.46898367A>T	VUS	1 lab	e56b2bea24
20:62836985 MYT1 C>T	20	62836985	62836985	C	T	MYT1	c.229C>T	NM_004535.3	NP_004526.1:p.(His77Tyr)	NC_000020.10:g.62836985C>T	VUS	1 lab	e56bcf2b70
17:7976969 ALOX12B C>CGGTA	17	7976969	7976973	C	CGGTA	ALOX12B	c.1755+2_1755+5dup	NM_001139.3	NP_001130.1:p.?	NC_000017.10:g.7976970_7976973dup	VUS	1 lab	e56bfd0644
12:26275241 BHLHE41 C>G	12	26275241	26275241	C	G	BHLHE41	c.1207G>C	NM_030762.3	NP_110389.1:p.(Ala403Pro)	NC_000012.11:g.26275241C>G	VUS	1 lab	e56c49b478
7:111503596 DOCK4 C>T	7	111503596	111503596	C	T	DOCK4	c.2305G>A	NM_001363540.2	NP_001350469.1:p.(Ala769Thr)	NC_000007.13:g.111503596C>T	(Likely) benign	1 lab	e56ca2487f
3:195974246 PCYT1A C>T	3	195974246	195974246	C	T	PCYT1A	c.478G>A	NM_001312673.2	NP_001299602.1:p.(Glu160Lys)	NC_000003.11:g.195974246C>T	(Likely) benign	1 lab	e56d49f00f
16:88926081 TRAPPC2L G>A	16	88926081	88926081	G	A	TRAPPC2L	c.217G>A	NM_001318525.2	NP_001305454.1:p.(Val73Ile)	NC_000016.9:g.88926081G>A	(Likely) benign	1 lab	e56e4a7b7c
9:135946726 CEL C>G	9	135946726	135946726	C	G	CEL	c.1837C>G	NM_001807.6	NP_001798.3:p.(Pro613Ala)	NC_000009.11:g.135946726C>G	(Likely) benign	1 lab	e56f3bb911
1:40777744 COL9A2 A>T	1	40777744	40777744	A	T	COL9A2	c.404T>A	NM_001852.4	NP_001843.1:p.(Ile135Asn)	NC_000001.10:g.40777744A>T	(Likely) benign	1 lab	e56f6d8fb9
3:12434205 PPARG G>C	3	12434205	12434205	G	C	PPARG	c.483G>C	NM_138711.6	NP_619725.3:p.(Gln161His)	NC_000003.11:g.12434205G>C	VUS	1 lab	e6726b758e
7:135286179 NUP205 G>A	7	135286179	135286179	G	A	NUP205	c.2436G>A	NM_015135.2	NP_055950.1:p.(Glu812=)	NC_000007.13:g.135286179G>A	(Likely) benign	1 lab	2f9f73b92d
6:129618854 LAMA2 G>A	6	129618854	129618854	G	A	LAMA2	c.2881G>A	NM_000426.4	NP_000417.3:p.(Ala961Thr)	NC_000006.11:g.129618854G>A	(Likely) benign	1 lab	e5726869e0
11:65655470 FIBP C>A	11	65655470	65655470	C	A	FIBP	c.219G>T	NM_004214.5	NP_004205.2:p.(Pro73=)	NC_000011.9:g.65655470C>A	(Likely) benign	1 lab	e5726fa88a
21:47970552 DIP2A G>A	21	47970552	47970552	G	A	DIP2A	c.2734G>A	NM_015151.4	NP_055966.2:p.(Glu912Lys)	NC_000021.8:g.47970552G>A	VUS	1 lab	e572a05f25
X:19390794 MAP3K15 T>G	X	19390794	19390794	T	G	MAP3K15	c.3085A>C	NM_001001671.4	NP_001001671.3:p.(Asn1029His)	NC_000023.10:g.19390794T>G	VUS	1 lab	e57519c7a4
6:117890791 GOPC C>T	6	117890791	117890791	C	T	GOPC	c.1021G>A	NM_020399.4	NP_065132.1:p.(Gly341Arg)	NC_000006.11:g.117890791C>T	VUS	1 lab	e5792ba37d
18:28993125 DSG4 C>A	18	28993125	28993125	C	A	DSG4	c.2690C>A	NM_177986.5	NP_817123.1:p.(Ser897Tyr)	NC_000018.9:g.28993125C>A	VUS	1 lab	2cf97b8b22
10:11505386 USP6NL G>T	10	11505386	11505386	G	T	USP6NL	c.1541C>A	NM_014688.5	NP_055503.1:p.(Ala514Glu)	NC_000010.10:g.11505386G>T	VUS	1 lab	e57b8181c8
17:17699351 RAI1 G>A	17	17699351	17699351	G	A	RAI1	c.3089G>A	NM_030665.4	NP_109590.3:p.(Cys1030Tyr)	NC_000017.10:g.17699351G>A	VUS	1 lab	e57c6b5fe8
X:77243819 ATP7A G>A	X	77243819	77243819	G	A	ATP7A	c.202G>A	NM_000052.7	NP_000043.4:p.(Asp68Asn)	NC_000023.10:g.77243819G>A	(Likely) benign	1 lab	e57f46594e
9:140610879 EHMT1 ATGG>A	9	140610879	140610885	ATGG	A	EHMT1	c.86-195_86-193del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610883_140610885del	(Likely) benign	1 lab	e5830e8ed5
8:10387083 PRSS55 C>T	8	10387083	10387083	C	T	PRSS55	c.221C>T	NM_198464.4	NP_940866.2:p.(Ala74Val)	NC_000008.10:g.10387083C>T	VUS	1 lab	e584613f58
17:48272137 COL1A1 C>T	17	48272137	48272137	C	T	COL1A1	c.1406G>A	NM_000088.4	NP_000079.2:p.(Arg469Gln)	NC_000017.10:g.48272137C>T	VUS	1 lab	e584e7c111
20:52199358 ZNF217 G>A	20	52199358	52199358	G	A	ZNF217	c.8C>T	NM_006526.3	NP_006517.1:p.(Ser3Leu)	NC_000020.10:g.52199358G>A	(Likely) benign	1 lab	e59415c779
X:112058782 AMOT G>GGCT	X	112058782	112058798	G	GGCT	AMOT	c.1193_1195dup	NM_001113490.2	NP_001106962.1:p.(Gln398dup)	NC_000023.10:g.112058796_112058798dup	VUS	1 lab	e586b5db2f
22:40761047 ADSL G>A	22	40761047	40761047	G	A	ADSL	c.1355G>A	NM_000026.4	NP_000017.1:p.(Arg452His)	NC_000022.10:g.40761047G>A	VUS	1 lab	e58737b311
22:21348430 LZTR1 C>A	22	21348430	21348430	C	A	LZTR1	c.1487C>A	NM_006767.4	NP_006758.2:p.(Ala496Asp)	NC_000022.10:g.21348430C>A	(Likely) benign	1 lab	e58755edb6
12:96380932 HAL G>A	12	96380932	96380932	G	A	HAL	c.964C>T	NM_002108.4	NP_002099.1:p.(Arg322Ter)	NC_000012.11:g.96380932G>A	VUS	1 lab	e587ebf37f
1:176668735 PAPPA2 G>A	1	176668735	176668735	G	A	PAPPA2	c.3236+10G>A	NM_020318.3	NP_064714.2:p.?	NC_000001.10:g.176668735G>A	VUS	1 lab	e58807c716
X:63411093 AMER1 C>G	X	63411093	63411093	C	G	AMER1	c.2074G>C	NM_152424.4	NP_689637.3:p.(Glu692Gln)	NC_000023.10:g.63411093C>G	(Likely) benign	1 lab	e589149e4c
5:169494563 DOCK2 A>G	5	169494563	169494563	A	G	DOCK2	c.4517A>G	NM_004946.3	NP_004937.1:p.(Asn1506Ser)	NC_000005.9:g.169494563A>G	VUS	1 lab	e589db830f
11:47354899 MYBPC3 C>G	11	47354899	47354899	C	G	MYBPC3	c.3191-15G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354899C>G	VUS	1 lab	2f9fdd926a
2:219925119 IHH G>T	2	219925119	219925119	G	T	IHH	c.71C>A	NM_002181.4	NP_002172.2:p.(Ala24Glu)	NC_000002.11:g.219925119G>T	VUS	1 lab	e58e1d7247
18:334837 COLEC12 G>A	18	334837	334837	G	A	COLEC12	c.1721C>T	NM_130386.3	NP_569057.2:p.(Pro574Leu)	NC_000018.9:g.334837G>A	(Likely) benign	1 lab	e58e80f0c0
18:50451653 DCC G>T	18	50451653	50451653	G	T	DCC	c.898G>T	NM_005215.4	NP_005206.2:p.(Val300Leu)	NC_000018.9:g.50451653G>T	VUS	1 lab	e58e98f349
14:105412417 AHNAK2 C>T	14	105412417	105412417	C	T	AHNAK2	c.9371G>A	NM_138420.4	NP_612429.2:p.(Arg3124Gln)	NC_000014.8:g.105412417C>T	(Likely) benign	1 lab	e58ecf9deb
9:135277596 TTF1 C>T	9	135277596	135277596	C	T	TTF1	c.613G>A	NM_007344.4	NP_031370.2:p.(Gly205Ser)	NC_000009.11:g.135277596C>T	(Likely) benign	1 lab	e59037e78c
X:67429979 OPHN1 C>T	X	67429979	67429979	C	T	OPHN1	c.832+16G>A	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67429979C>T	(Likely) benign	1 lab	2fa027baaa
7:129962331 CPA4 C>A	7	129962331	129962331	C	A	CPA4	c.1081C>A	NM_016352.4	NP_057436.2:p.(Pro361Thr)	NC_000007.13:g.129962331C>A	(Likely) benign	1 lab	e591fadb5a
18:74606964 ZNF236 C>T	18	74606964	74606964	C	T	ZNF236	c.1418-5C>T	NM_001306089.2	NP_001293018.1:p.?	NC_000018.9:g.74606964C>T	(Likely) benign	1 lab	e59318d681
14:58724638 PSMA3 C>T	14	58724638	58724638	C	T	PSMA3	c.331-5C>T	NM_002788.4	NP_002779.1:p.?	NC_000014.8:g.58724638C>T	(Likely) benign	1 lab	2fa172b7b8
15:91293275 BLM A>C	15	91293275	91293275	A	C	BLM	c.777A>C	NM_000057.4	NP_000048.1:p.(Lys259Asn)	NC_000015.9:g.91293275A>C	(Likely) benign	1 lab	e594dae435
8:22054919 BMP1 C>T	8	22054919	22054919	C	T	BMP1	c.2093C>T	NM_006129.5	NP_006120.1:p.(Ala698Val)	NC_000008.10:g.22054919C>T	VUS	1 lab	e595c4f5d4
2:26541813 ADGRF3 T>A	2	26541813	26541813	T	A	ADGRF3	c.115-1383A>T	NM_001321971.2	NP_001308900.1:p.?	NC_000002.11:g.26541813T>A	(Likely) benign	1 lab	e595e6f9e8
10:94004 TUBB8 C>T	10	94004	94004	C	T	TUBB8	c.328G>A	NM_177987.3	NP_817124.1:p.(Ala110Thr)	NC_000010.10:g.94004C>T	(Likely) benign	1 lab	e597dc26e3
16:2156620 PKD1 G>T	16	2156620	2156620	G	T	PKD1	c.7268C>A	NM_001009944.3	NP_001009944.3:p.(Ser2423Tyr)	NC_000016.9:g.2156620G>T	(Likely) pathogenic	1 lab	e5982f11c1
6:15627708 DTNBP1 T>TCCTC	6	15627708	15627709	T	TCCTC	DTNBP1	c.223-3_223-2insGAGG	NM_032122.5	NP_115498.2:p.?	NC_000006.11:g.15627708_15627709insCCTC	VUS	1 lab	e598416d76
17:41959862 MPP2 C>T	17	41959862	41959862	C	T	MPP2	c.471G>A	NM_005374.5	NP_005365.4:p.(Val157=)	NC_000017.10:g.41959862C>T	(Likely) benign	1 lab	e59912adcc
9:3225169 RFX3 A>G	9	3225169	3225169	A	G	RFX3	c.2123T>C	NM_001282116.2	NP_001269045.1:p.(Met708Thr)	NC_000009.11:g.3225169A>G	(Likely) benign	1 lab	e5995224fa
9:35801636 NPR2 A>G	9	35801636	35801636	A	G	NPR2	c.1437-4A>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35801636A>G	VUS	1 lab	e5996dc124
18:6971963 LAMA1 C>G	18	6971963	6971963	C	G	LAMA1	c.6792G>C	NM_005559.4	NP_005550.2:p.(Lys2264Asn)	NC_000018.9:g.6971963C>G	VUS	1 lab	e59b0ff0ba
19:11313384 DOCK6 C>T	19	11313384	11313384	C	T	DOCK6	c.5237G>A	NM_020812.4	NP_065863.2:p.(Arg1746His)	NC_000019.9:g.11313384C>T	VUS	1 lab	e59b53052a
14:105833616 PACS2 G>A	14	105833616	105833616	G	A	PACS2	c.490G>A	NM_001100913.3	NP_001094383.2:p.(Val164Ile)	NC_000014.8:g.105833616G>A	(Likely) benign	1 lab	e59c2a2a3e
5:137722114 KDM3B C>A	5	137722114	137722114	C	A	KDM3B	c.1184C>A	NM_016604.4	NP_057688.3:p.(Ala395Asp)	NC_000005.9:g.137722114C>A	(Likely) benign	1 lab	e59daaf56c
4:106890086 NPNT C>A	4	106890086	106890086	C	A	NPNT	c.1637C>A	NM_001033047.3	NP_001028219.1:p.(Thr546Asn)	NC_000004.11:g.106890086C>A	(Likely) benign	1 lab	e59dc5177c
6:56418103 DST C>T	6	56418103	56418103	C	T	DST	c.15487G>A	NM_001374736.1	NP_001361665.1:p.(Glu5163Lys)	NC_000006.11:g.56418103C>T	(Likely) benign	1 lab	e5a16b3b3a
4:158254130 GRIA2 C>T	4	158254130	158254130	C	T	GRIA2	c.1042C>T	NM_001083619.3	NP_001077088.2:p.(Leu348Phe)	NC_000004.11:g.158254130C>T	VUS	1 lab	e5a1aef131
19:5915314 CAPS C>A	19	5915314	5915314	C	A	CAPS	c.551C>A	NM_004058.5	NP_004049.3:p.(Thr184Asn)	NC_000019.9:g.5915314C>A	VUS	1 lab	e601982b8a
X:9863266 SHROOM2 G>A	X	9863266	9863266	G	A	SHROOM2	c.1318G>A	NM_001649.4	NP_001640.1:p.(Ala440Thr)	NC_000023.10:g.9863266G>A	(Likely) benign	1 lab	e5a363f3d1
X:123518026 TENM1 G>C	X	123518026	123518026	G	C	TENM1	c.6755C>G	NM_001163278.2	NP_001156750.1:p.(Thr2252Ser)	NC_000023.10:g.123518026G>C	(Likely) benign	1 lab	e5a3ac5404
1:154956379 FLAD1 C>CA	1	154956379	154956380	C	CA	FLAD1	c.210dup	NM_025207.5	NP_079483.3:p.(Gly71ArgfsTer31)	NC_000001.10:g.154956380dup	VUS	1 lab	e5a55799b7
12:113610190 DDX54 G>A	12	113610190	113610190	G	A	DDX54	c.1247C>T	NM_024072.4	NP_076977.3:p.(Pro416Leu)	NC_000012.11:g.113610190G>A	(Likely) benign	1 lab	e5a5729b02
9:101216264 GABBR2 G>A	9	101216264	101216264	G	A	GABBR2	c.1235C>T	NM_005458.8	NP_005449.5:p.(Thr412Met)	NC_000009.11:g.101216264G>A	VUS	1 lab	e5a6c0fdab
19:15288693 NOTCH3 G>A	19	15288693	15288693	G	A	NOTCH3	c.4046C>T	NM_000435.3	NP_000426.2:p.(Ser1349Phe)	NC_000019.9:g.15288693G>A	VUS	1 lab	e5a6f666eb
1:147092345 BCL9 G>A	1	147092345	147092345	G	A	BCL9	c.2384G>A	NM_004326.4	NP_004317.2:p.(Ser795Asn)	NC_000001.10:g.147092345G>A	VUS	1 lab	e5a752fe01
2:163128833 IFIH1 A>G	2	163128833	163128833	A	G	IFIH1	c.2519T>C	NM_022168.4	NP_071451.2:p.(Val840Ala)	NC_000002.11:g.163128833A>G	(Likely) benign	1 lab	e5a7dbca39
4:114277807 ANK2 A>T	4	114277807	114277807	A	T	ANK2	c.8033A>T	NM_001148.6	NP_001139.3:p.(Asp2678Val)	NC_000004.11:g.114277807A>T	(Likely) benign	1 lab	e5a8319919
8:11566320 GATA4 G>A	8	11566320	11566320	G	A	GATA4	c.499G>A	NM_001308093.3	NP_001295022.1:p.(Ala167Thr)	NC_000008.10:g.11566320G>A	(Likely) benign	1 lab	e5a8c2d8f0
X:70349671 MED12 A>G	X	70349671	70349671	A	G	MED12	c.3833A>G	NM_005120.3	NP_005111.2:p.(Tyr1278Cys)	NC_000023.10:g.70349671A>G	(Likely) pathogenic	1 lab	e5a8f617bc
1:120502123 NOTCH2 C>A	1	120502123	120502123	C	A	NOTCH2	c.1918G>T	NM_024408.4	NP_077719.2:p.(Val640Phe)	NC_000001.10:g.120502123C>A	VUS	1 lab	e5a9dbc777
21:31971102 KRTAP6-2 C>T	21	31971102	31971102	C	T	KRTAP6-2	c.92G>A	NM_181604.2	NP_853635.1:p.(Arg31His)	NC_000021.8:g.31971102C>T	(Likely) benign	1 lab	e5aa3f232e
9:35809224 NPR2 C>T	9	35809224	35809224	C	T	NPR2	c.3058C>T	NM_003995.4	NP_003986.2:p.(Arg1020Trp)	NC_000009.11:g.35809224C>T	VUS	1 lab	e5aa8394bc
3:111366466 CD96 A>G	3	111366466	111366466	A	G	CD96	c.1554A>G	NM_005816.5	NP_005807.1:p.(Ile518Met)	NC_000003.11:g.111366466A>G	(Likely) benign	1 lab	e5aab128c4
X:140926159 MAGEC3 C>T	X	140926159	140926159	C	T	MAGEC3	c.58C>T	NM_138702.1	NP_619647.1:p.(Gln20Ter)	NC_000023.10:g.140926159C>T	(Likely) benign	1 lab	e5ac8b82c7
13:31848718 B3GLCT G>A	13	31848718	31848718	G	A	B3GLCT	c.733G>A	NM_194318.4	NP_919299.3:p.(Val245Met)	NC_000013.10:g.31848718G>A	(Likely) benign	1 lab	e5ae6011eb
2:135476322 TMEM163 C>T	2	135476322	135476322	C	T	TMEM163	c.184G>A	NM_030923.5	NP_112185.1:p.(Asp62Asn)	NC_000002.11:g.135476322C>T	VUS	1 lab	e5af8ea6ea
16:70299544 AARS1 T>C	16	70299544	70299544	T	C	AARS1	c.1244A>G	NM_001605.3	NP_001596.2:p.(Tyr415Cys)	NC_000016.9:g.70299544T>C	VUS	1 lab	e5b16147d1
11:55111480 OR4A16 A>C	11	55111480	55111480	A	C	OR4A16	c.804A>C	NM_001005274.1	NP_001005274.1:p.(Leu268Phe)	NC_000011.9:g.55111480A>C	VUS	1 lab	e5b18d1cf7
19:40376987 FCGBP C>T	19	40376987	40376987	C	T	FCGBP	c.11435G>A	NM_003890.3	NP_003881.2:p.(Gly3812Asp)	NC_000019.9:g.40376987C>T	(Likely) benign	1 lab	e5b4bac5ab
6:41553163 FOXP4 C>G	6	41553163	41553163	C	G	FOXP4	c.424-6C>G	NM_001012426.2	NP_001012426.1:p.?	NC_000006.11:g.41553163C>G	(Likely) benign	1 lab	e5b5c51b50
X:83129189 CYLC1 G>T	X	83129189	83129189	G	T	CYLC1	c.1473G>T	NM_021118.3	NP_066941.1:p.(Glu491Asp)	NC_000023.10:g.83129189G>T	(Likely) benign	1 lab	e5b607654d
16:1245018 CACNA1H A>T	16	1245018	1245018	A	T	CACNA1H	c.346A>T	NM_021098.3	NP_066921.2:p.(Thr116Ser)	NC_000016.9:g.1245018A>T	VUS	1 lab	e5b65a7c6c
3:49698018 BSN T>A	3	49698018	49698018	T	A	BSN	c.8740T>A	NM_003458.4	NP_003449.2:p.(Ser2914Thr)	NC_000003.11:g.49698018T>A	(Likely) benign	1 lab	e5b736d5f9
12:123343628 HIP1R G>C	12	123343628	123343628	G	C	HIP1R	c.2179G>C	NM_003959.3	NP_003950.1:p.(Glu727Gln)	NC_000012.11:g.123343628G>C	VUS	1 lab	e5b7ed2813
2:84912554 DNAH6 G>T	2	84912554	84912554	G	T	DNAH6	c.7021G>T	NM_001370.2	NP_001361.1:p.(Glu2341Ter)	NC_000002.11:g.84912554G>T	VUS	1 lab	2cfe555212
19:39406709 SARS2 T>A	19	39406709	39406709	T	A	SARS2	c.1315A>T	NM_017827.4	NP_060297.1:p.(Thr439Ser)	NC_000019.9:g.39406709T>A	(Likely) benign	1 lab	2fa213d35c
6:168377271 MISSING G>GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	6	168377271	168377338	G	GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	MISSING				NC_000006.11:g.168377294_168377338dup	VUS	1 lab	e5bd94e3ee
2:179633642 TTN A>G	2	179633642	179633642	A	G	TTN	c.8921T>C	NM_001267550.2	NP_001254479.2:p.(Met2974Thr)	NC_000002.11:g.179633642A>G	(Likely) benign	1 lab	e5be1ea69a
7:44185337 GCK G>A	7	44185337	44185337	G	A	GCK	c.1020-8C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44185337G>A	(Likely) benign	1 lab	e5c0e8675a
4:149357117 NR3C2 C>T	4	149357117	149357117	C	T	NR3C2	c.896G>A	NM_000901.5	NP_000892.2:p.(Ser299Asn)	NC_000004.11:g.149357117C>T	VUS	1 lab	e5c1511d41
8:144994566 PLEC G>A	8	144994566	144994566	G	A	PLEC	c.9423C>T	NM_201384.3	NP_958786.1:p.(Gly3141=)	NC_000008.10:g.144994566G>A	(Likely) benign	1 lab	e5c1e327fe
18:29625636 RNF125 T>G	18	29625636	29625636	T	G	RNF125	c.445T>G	NM_017831.4	NP_060301.2:p.(Tyr149Asp)	NC_000018.9:g.29625636T>G	(Likely) benign	1 lab	e5c4cbb744
5:149357850 SLC26A2 G>T	5	149357850	149357850	G	T	SLC26A2	c.635G>T	NM_000112.4	NP_000103.2:p.(Cys212Phe)	NC_000005.9:g.149357850G>T	VUS	1 lab	e5c592e91a
7:73935594 GTF2IRD1 C>T	7	73935594	73935594	C	T	GTF2IRD1	c.973C>T	NM_005685.4	NP_005676.3:p.(Arg325Cys)	NC_000007.13:g.73935594C>T	VUS	1 lab	e5c5b25b4b
X:129147757 BCORL1 G>A	X	129147757	129147757	G	A	BCORL1	c.1009G>A	NM_001379451.1	NP_001366380.1:p.(Val337Ile)	NC_000023.10:g.129147757G>A	VUS	1 lab	e5c5df438a
11:64026725 PLCB3 C>T	11	64026725	64026725	C	T	PLCB3	c.1525+9C>T	NM_000932.5	NP_000923.1:p.?	NC_000011.9:g.64026725C>T	(Likely) benign	1 lab	e5c727071b
3:10085193 FANCD2 G>A	3	10085193	10085193	G	A	FANCD2	c.1015G>A	NM_001018115.3	NP_001018125.1:p.(Gly339Ser)	NC_000003.11:g.10085193G>A	VUS	1 lab	e5c89659e8
5:86668007 RASA1 C>T	5	86668007	86668007	C	T	RASA1	c.1771C>T	NM_002890.3	NP_002881.1:p.(Arg591Cys)	NC_000005.9:g.86668007C>T	VUS	1 lab	e67188587a
22:42458845 NAGA G>A	22	42458845	42458845	G	A	NAGA	c.943C>T	NM_000262.3	NP_000253.1:p.(Arg315Cys)	NC_000022.10:g.42458845G>A	VUS	1 lab	e5cae17978
14:51225097 NIN TTCTC>T	14	51225097	51225106	TTCTC	T	NIN	c.2647_2650del	NM_020921.4	NP_065972.4:p.(Glu883LysfsTer7)	NC_000014.8:g.51225103_51225106del	VUS	1 lab	e5cb06f482
7:1514455 INTS1 C>T	7	1514455	1514455	C	T	INTS1	c.5522G>A	NM_001080453.3	NP_001073922.2:p.(Arg1841His)	NC_000007.13:g.1514455C>T	VUS	1 lab	e5cb0ac473
X:153222107 HCFC1 G>A	X	153222107	153222107	G	A	HCFC1	c.2604C>T	NM_005334.3	NP_005325.2:p.(Ala868=)	NC_000023.10:g.153222107G>A	(Likely) benign	1 lab	2fafcea2cf
11:71948834 INPPL1 AGAG>A	11	71948834	71948841	AGAG	A	INPPL1	c.3551_3552+1del	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71948839_71948841del	VUS	1 lab	e5d224ab3b
2:170129449 LRP2 G>A	2	170129449	170129449	G	A	LRP2	c.2104C>T	NM_004525.3	NP_004516.2:p.(Arg702Cys)	NC_000002.11:g.170129449G>A	VUS	1 lab	e5d228d8b3
18:42532322 SETBP1 A>G	18	42532322	42532322	A	G	SETBP1	c.3017A>G	NM_015559.3	NP_056374.2:p.(Tyr1006Cys)	NC_000018.9:g.42532322A>G	VUS	1 lab	e5d2d71471
16:70509601 FCSK G>A	16	70509601	70509601	G	A	FCSK	c.2572G>A	NM_145059.3	NP_659496.2:p.(Ala858Thr)	NC_000016.9:g.70509601G>A	VUS	1 lab	e5d39541ba
6:24698178 ACOT13 A>G	6	24698178	24698178	A	G	ACOT13	c.149A>G	NM_018473.4	NP_060943.1:p.(Asn50Ser)	NC_000006.11:g.24698178A>G	VUS	1 lab	e5d3cd7d76
4:6296886 WFS1 G>A	4	6296886	6296886	G	A	WFS1	c.831G>A	NM_006005.3	NP_005996.2:p.(Lys277=)	NC_000004.11:g.6296886G>A	(Likely) benign	1 lab	e5d463de00
1:210761301 HHAT C>T	1	210761301	210761301	C	T	HHAT	c.1103C>T	NM_018194.6	NP_060664.2:p.(Thr368Met)	NC_000001.10:g.210761301C>T	VUS	1 lab	e5d4d7d874
1:110128926 GNAI3 C>G	1	110128926	110128926	C	G	GNAI3	c.679C>G	NM_006496.4	NP_006487.1:p.(Leu227Val)	NC_000001.10:g.110128926C>G	VUS	1 lab	e5d75e64f7
22:20302311 DGCR6L G>A	22	20302311	20302311	G	A	DGCR6L	c.550C>T	NM_033257.4	NP_150282.2:p.(Arg184Ter)	NC_000022.10:g.20302311G>A	(Likely) benign	1 lab	e5d8952922
12:42499701 GXYLT1 C>A	12	42499701	42499701	C	A	GXYLT1	c.783G>T	NM_173601.2	NP_775872.1:p.(Arg261Ser)	NC_000012.11:g.42499701C>A	(Likely) benign	1 lab	e5d999d9f9
2:170350338 BBS5 C>A	2	170350338	170350338	C	A	BBS5	c.610C>A	NM_152384.3	NP_689597.1:p.(Leu204Met)	NC_000002.11:g.170350338C>A	VUS	1 lab	e5da2a46d6
10:18122661 MRC1 C>T	10	18122661	18122661	C	T	MRC1	c.671C>T	NM_002438.4	NP_002429.1:p.(Pro224Leu)	NC_000010.10:g.18122661C>T	(Likely) benign	1 lab	e5de96ddc3
10:73572104 CDH23 G>T	10	73572104	73572104	G	T	CDH23	c.9381-133G>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73572104G>T	VUS	1 lab	e5df686cd7
8:57890695 BPNT2 C>T	8	57890695	57890695	C	T	BPNT2	c.560G>A	NM_017813.5	NP_060283.3:p.(Arg187Gln)	NC_000008.10:g.57890695C>T	(Likely) benign	1 lab	e5df9da6fa
14:92470161 TRIP11 C>T	14	92470161	92470161	C	T	TRIP11	c.4159G>A	NM_004239.4	NP_004230.2:p.(Glu1387Lys)	NC_000014.8:g.92470161C>T	(Likely) benign	1 lab	e5e142c2d8
2:179518361 TTN G>C	2	179518361	179518361	G	C	TTN	c.38613C>G	NM_001267550.2	NP_001254479.2:p.(Ala12871=)	NC_000002.11:g.179518361G>C	(Likely) benign	1 lab	e5e2dec4a2
1:45796865 MUTYH C>T	1	45796865	45796865	C	T	MUTYH	c.1381G>A	NM_001048174.2	NP_001041639.1:p.(Ala461Thr)	NC_000001.10:g.45796865C>T	VUS	1 lab	e5e38cb8b2
11:124972222 TMEM218 A>G	11	124972222	124972222	A	G	TMEM218	c.-76-9T>C	NM_001258244.2	NP_001245173.1:p.?	NC_000011.9:g.124972222A>G	(Likely) benign	1 lab	e5e6d5ab8d
11:103182601 DYNC2H1 T>C	11	103182601	103182601	T	C	DYNC2H1	c.11515-6T>C	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103182601T>C	(Likely) benign	1 lab	2fb312cb37
19:36223620 KMT2B G>A	19	36223620	36223620	G	A	KMT2B	c.6170G>A	NM_014727.3	NP_055542.1:p.(Arg2057His)	NC_000019.9:g.36223620G>A	(Likely) benign	1 lab	e5e9812854
14:105418694 AHNAK2 G>T	14	105418694	105418694	G	T	AHNAK2	c.3094C>A	NM_138420.4	NP_612429.2:p.(Leu1032Met)	NC_000014.8:g.105418694G>T	(Likely) benign	1 lab	e5ea50841f
17:78087066 GAA A>C	17	78087066	78087066	A	C	GAA	c.2090A>C	NM_000152.5	NP_000143.2:p.(Lys697Thr)	NC_000017.10:g.78087066A>C	(Likely) benign	1 lab	e5ea85b5e0
19:42754725 ERF C>T	19	42754725	42754725	C	T	ERF	c.23-8G>A	NM_006494.4	NP_006485.2:p.?	NC_000019.9:g.42754725C>T	(Likely) benign	1 lab	e5eb64d7fd
18:43669580 ATP5F1A G>A	18	43669580	43669580	G	A	ATP5F1A	c.602C>T	NM_004046.6	NP_004037.1:p.(Pro201Leu)	NC_000018.9:g.43669580G>A	VUS	1 lab	e5ec1cb084
4:79343151 FRAS1 G>A	4	79343151	79343151	G	A	FRAS1	c.4675G>A	NM_025074.7	NP_079350.5:p.(Ala1559Thr)	NC_000004.11:g.79343151G>A	VUS	1 lab	e5ec70cc09
16:88901661 GALNS C>T	16	88901661	88901661	C	T	GALNS	c.858G>A	NM_000512.5	NP_000503.1:p.(Thr286=)	NC_000016.9:g.88901661C>T	(Likely) benign	1 lab	e5ee3cec6b
6:152647513 SYNE1 G>C	6	152647513	152647513	G	C	SYNE1	c.15211C>G	NM_182961.4	NP_892006.3:p.(Leu5071Val)	NC_000006.11:g.152647513G>C	(Likely) benign	1 lab	e5ee9af8d5
17:5487221 NLRP1 C>T	17	5487221	5487221	C	T	NLRP1	c.57G>A	NM_033004.4	NP_127497.1:p.(Glu19=)	NC_000017.10:g.5487221C>T	(Likely) benign	1 lab	2fb75dad4e
2:182542802 NEUROD1 A>T	2	182542802	182542802	A	T	NEUROD1	c.786T>A	NM_002500.5	NP_002491.3:p.(Thr262=)	NC_000002.11:g.182542802A>T	(Likely) benign	1 lab	e5eff8f157
8:144992276 PLEC C>T	8	144992276	144992276	C	T	PLEC	c.11713G>A	NM_201384.3	NP_958786.1:p.(Glu3905Lys)	NC_000008.10:g.144992276C>T	VUS	1 lab	e5f179b6a9
10:79785399 POLR3A G>A	10	79785399	79785399	G	A	POLR3A	c.299C>T	NM_007055.4	NP_008986.2:p.(Ala100Val)	NC_000010.10:g.79785399G>A	VUS	1 lab	e5f1b70eb2
11:89069094 NOX4 T>C	11	89069094	89069094	T	C	NOX4	c.1535A>G	NM_016931.5	NP_058627.2:p.(Tyr512Cys)	NC_000011.9:g.89069094T>C	VUS	1 lab	e5f2bcf769
8:144997435 PLEC C>T	8	144997435	144997435	C	T	PLEC	c.6662G>A	NM_201384.3	NP_958786.1:p.(Arg2221His)	NC_000008.10:g.144997435C>T	VUS	1 lab	e5f49ba581
2:209104645 IDH1 AGTC>A	2	209104645	209104648	AGTC	A	IDH1	c.930_932del	NM_005896.4	NP_005887.2:p.(Thr311del)	NC_000002.11:g.209104646_209104648del	VUS	1 lab	e5f4c05e4a
7:143956465 OR2A7 T>A	7	143956465	143956465	T	A	OR2A7	c.257A>T	NM_001005328.2	NP_001005328.1:p.(His86Leu)	NC_000007.13:g.143956465T>A	(Likely) benign	1 lab	e5f4c99981
17:30306513 SUZ12 TC>T	17	30306513	30306518	TC	T	SUZ12	c.917+2885del	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30306518del	(Likely) benign	1 lab	e5f711bb78
19:9407011 ZNF699 G>A	19	9407011	9407011	G	A	ZNF699	c.1069C>T	NM_198535.3	NP_940937.1:p.(His357Tyr)	NC_000019.9:g.9407011G>A	VUS	1 lab	e5f772d4ed
20:43048492 HNF4A A>G	20	43048492	43048492	A	G	HNF4A	c.868A>G	NM_000457.5	NP_000448.3:p.(Lys290Glu)	NC_000020.10:g.43048492A>G	(Likely) pathogenic	1 lab	e5f8544b58
12:5153509 KCNA5 C>T	12	5153509	5153509	C	T	KCNA5	c.196C>T	NM_002234.4	NP_002225.2:p.(Pro66Ser)	NC_000012.11:g.5153509C>T	(Likely) benign	1 lab	e5f926ddf8
22:38380488 SOX10 G>A	22	38380488	38380488	G	A	SOX10	c.-227C>T	NM_006941.4	NP_008872.1:p.?	NC_000022.10:g.38380488G>A	VUS	1 lab	e5fa2a3055
6:144508353 STX11 G>A	6	144508353	144508353	G	A	STX11	c.589G>A	NM_003764.3	NP_003755.2:p.(Val197Met)	NC_000006.11:g.144508353G>A	(Likely) benign	1 lab	2fb9eb4312
3:155199331 PLCH1 A>T	3	155199331	155199331	A	T	PLCH1	c.4484T>A	NM_014996.4	NP_055811.2:p.(Ile1495Asn)	NC_000003.11:g.155199331A>T	VUS	1 lab	e5fb7d5154
5:94838677 SKIC3 G>A	5	94838677	94838677	G	A	SKIC3	c.3248C>T	NM_014639.4	NP_055454.1:p.(Ser1083Leu)	NC_000005.9:g.94838677G>A	VUS	1 lab	2d0699d901
15:90216446 PLIN1 G>A	15	90216446	90216446	G	A	PLIN1	c.245C>T	NM_002666.5	NP_002657.3:p.(Thr82Ile)	NC_000015.9:g.90216446G>A	(Likely) benign	1 lab	e6003b8eed
19:7117205 INSR CCTCT>C	19	7117205	7117209	CCTCT	C	INSR	c.4007_4010del	NM_000208.4	NP_000199.2:p.(Gln1336ArgfsTer28)	NC_000019.9:g.7117206_7117209del	VUS	1 lab	e6011ea661
20:450555 MISSING T>C	20	450555	450555	T	C	MISSING				NC_000020.10:g.450555T>C	VUS	1 lab	e6013547ac
10:79396304 KCNMA1 T>C	10	79396304	79396304	T	C	KCNMA1	c.378+719A>G	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396304T>C	VUS	1 lab	e604694fa1
9:35801688 NPR2 C>G	9	35801688	35801688	C	G	NPR2	c.1485C>G	NM_003995.4	NP_003986.2:p.(Arg495=)	NC_000009.11:g.35801688C>G	(Likely) benign	1 lab	e6067c81e8
16:2153614 PKD1 G>A	16	2153614	2153614	G	A	PKD1	c.8444C>T	NM_001009944.3	NP_001009944.3:p.(Ala2815Val)	NC_000016.9:g.2153614G>A	(Likely) benign	1 lab	e6076d01d4
17:68172379 KCNJ2 C>T	17	68172379	68172379	C	T	KCNJ2	c.1199C>T	NM_000891.3	NP_000882.1:p.(Thr400Met)	NC_000017.10:g.68172379C>T	(Likely) benign	1 lab	e60850831f
6:87968736 ZNF292 T>A	6	87968736	87968736	T	A	ZNF292	c.5389T>A	NM_015021.3	NP_055836.1:p.(Ser1797Thr)	NC_000006.11:g.87968736T>A	VUS	1 lab	e6097a2158
6:3113272 RIPK1 T>C	6	3113272	3113272	T	C	RIPK1	c.1730-15T>C	NM_003804.6	NP_003795.2:p.?	NC_000006.11:g.3113272T>C	(Likely) benign	1 lab	2fbbaf6910
1:26611971 UBXN11 T>C	1	26611971	26611971	T	C	UBXN11	c.836A>G	NM_001389556.1	NP_001376485.1:p.(Asn279Ser)	NC_000001.10:g.26611971T>C	VUS	1 lab	e60a9a7101
16:90124805 PRDM7 C>T	16	90124805	90124805	C	T	PRDM7	c.1371G>A	NM_001098173.2	NP_001091643.1:p.(Gln457=)	NC_000016.9:g.90124805C>T	VUS	1 lab	e60bd6daf1
20:52774009 CYP24A1 G>A	20	52774009	52774009	G	A	CYP24A1	c.1352C>T	NM_000782.5	NP_000773.2:p.(Ala451Val)	NC_000020.10:g.52774009G>A	(Likely) benign	1 lab	e60c34eeb7
1:228543853 OBSCN C>T	1	228543853	228543853	C	T	OBSCN	c.21532+3090C>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228543853C>T	(Likely) benign	1 lab	e60c917bda
3:87309142 POU1F1 C>T	3	87309142	87309142	C	T	POU1F1	c.778G>A	NM_000306.4	NP_000297.1:p.(Val260Ile)	NC_000003.11:g.87309142C>T	(Likely) benign	1 lab	e60d3426d1
13:114152657 SLC9D1 G>A	13	114152657	114152657	G	A	SLC9D1	c.445G>A	NM_017905.6	NP_060375.4:p.(Glu149Lys)	NC_000013.10:g.114152657G>A	VUS	1 lab	e60f42ccb5
4:6302625 WFS1 G>A	4	6302625	6302625	G	A	WFS1	c.1103G>A	NM_006005.3	NP_005996.2:p.(Ser368Asn)	NC_000004.11:g.6302625G>A	VUS	1 lab	e610f72f92
7:96650311 DLX5 G>A	7	96650311	96650311	G	A	DLX5	c.607C>T	NM_005221.6	NP_005212.1:p.(Pro203Ser)	NC_000007.13:g.96650311G>A	VUS	1 lab	e61290b03f
20:62853242 MYT1 G>A	20	62853242	62853242	G	A	MYT1	c.2242-4G>A	NM_004535.3	NP_004526.1:p.?	NC_000020.10:g.62853242G>A	(Likely) benign	1 lab	e6138440d4
6:41557727 FOXP4 A>G	6	41557727	41557727	A	G	FOXP4	c.1176A>G	NM_001012426.2	NP_001012426.1:p.(Ser392=)	NC_000006.11:g.41557727A>G	(Likely) benign	1 lab	e6143e8590
17:4435940 SPNS2 G>A	17	4435940	4435940	G	A	SPNS2	c.896G>A	NM_001124758.3	NP_001118230.1:p.(Arg299Gln)	NC_000017.10:g.4435940G>A	VUS	1 lab	e61487fc2a
6:148835495 SASH1 G>A	6	148835495	148835495	G	A	SASH1	c.765G>A	NM_015278.5	NP_056093.3:p.(Ser255=)	NC_000006.11:g.148835495G>A	VUS	1 lab	e6148877ff
6:129799923 LAMA2 G>A	6	129799923	129799923	G	A	LAMA2	c.7537G>A	NM_000426.4	NP_000417.3:p.(Asp2513Asn)	NC_000006.11:g.129799923G>A	VUS	1 lab	2d0736db0c
1:84647412 PRKACB G>A	1	84647412	84647412	G	A	PRKACB	c.250-471G>A	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647412G>A	(Likely) benign	1 lab	e6151c696f
16:51175655 SALL1 C>CGCTGCTGCTGCT	16	51175655	51175685	C	CGCTGCTGCTGCT	SALL1	c.466_477dup	NM_002968.3	NP_002959.2:p.(Ser156_Ser159dup)	NC_000016.9:g.51175674_51175685dup	VUS	1 lab	e61833969f
19:9922018 FBXL12 G>A	19	9922018	9922018	G	A	FBXL12	c.535C>T	NM_017703.3	NP_060173.1:p.(Arg179Cys)	NC_000019.9:g.9922018G>A	VUS	1 lab	e619afb4b9
2:240056115 HDAC4 C>T	2	240056115	240056115	C	T	HDAC4	c.1120G>A	NM_001378414.1	NP_001365343.1:p.(Glu374Lys)	NC_000002.11:g.240056115C>T	(Likely) benign	1 lab	e61b115cf6
15:76697016 SCAPER C>T	15	76697016	76697016	C	T	SCAPER	c.3316G>A	NM_020843.4	NP_065894.2:p.(Val1106Met)	NC_000015.9:g.76697016C>T	(Likely) benign	1 lab	e61b985265
6:152686036 SYNE1 T>C	6	152686036	152686036	T	C	SYNE1	c.10091A>G	NM_182961.4	NP_892006.3:p.(Gln3364Arg)	NC_000006.11:g.152686036T>C	(Likely) benign	1 lab	e61cdd9282
15:33260973 FMN1 C>T	15	33260973	33260973	C	T	FMN1	c.2929G>A	NM_001277313.2	NP_001264242.1:p.(Glu977Lys)	NC_000015.9:g.33260973C>T	(Likely) benign	1 lab	e61d9286d0
11:46918412 LRP4 G>A	11	46918412	46918412	G	A	LRP4	c.922+8C>T	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46918412G>A	(Likely) benign	1 lab	e61dfcead7
20:44685095 SLC12A5 CGGA>C	20	44685095	44685099	CGGA	C	SLC12A5	c.3004_3006del	NM_020708.5	NP_065759.1:p.(Glu1002del)	NC_000020.10:g.44685097_44685099del	VUS	1 lab	e61e3349f5
1:17265472 CROCC C>G	1	17265472	17265472	C	G	CROCC	c.1443C>G	NM_014675.5	NP_055490.4:p.(Asn481Lys)	NC_000001.10:g.17265472C>G	(Likely) benign	1 lab	e61eb0f025
2:238285820 COL6A3 G>A	2	238285820	238285820	G	A	COL6A3	c.2665C>T	NM_004369.4	NP_004360.2:p.(Arg889Cys)	NC_000002.11:g.238285820G>A	VUS	1 lab	e61ecf1c60
2:145157075 ZEB2 C>T	2	145157075	145157075	C	T	ZEB2	c.1679G>A	NM_014795.4	NP_055610.1:p.(Arg560His)	NC_000002.11:g.145157075C>T	VUS	1 lab	e61ee24479
15:39882203 THBS1 T>A	15	39882203	39882203	T	A	THBS1	c.2124T>A	NM_003246.4	NP_003237.2:p.(Asn708Lys)	NC_000015.9:g.39882203T>A	(Likely) benign	1 lab	e61f5d0f06
6:51890316 PKHD1 C>T	6	51890316	51890316	C	T	PKHD1	c.4292G>A	NM_138694.4	NP_619639.3:p.(Cys1431Tyr)	NC_000006.11:g.51890316C>T	VUS	1 lab	e6219365e9
11:44129546 EXT2 G>A	11	44129546	44129546	G	A	EXT2	c.284G>A	NM_207122.2	NP_997005.1:p.(Arg95His)	NC_000011.9:g.44129546G>A	VUS	1 lab	e62205a7a8
15:48892321 FBN1 C>A	15	48892321	48892321	C	A	FBN1	c.442+15G>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48892321C>A	(Likely) benign	1 lab	2fbd9eed73
19:18170723 IL12RB1 C>T	19	18170723	18170723	C	T	IL12RB1	c.1964G>A	NM_005535.3	NP_005526.1:p.(Gly655Glu)	NC_000019.9:g.18170723C>T	VUS	1 lab	e626687ceb
X:23754116 ACOT9 T>C	X	23754116	23754116	T	C	ACOT9	c.38A>G	NM_001037171.2	NP_001032248.1:p.(Lys13Arg)	NC_000023.10:g.23754116T>C	VUS	1 lab	e626b800b1
12:49919853 SPATS2 G>C	12	49919853	49919853	G	C	SPATS2	c.1453G>C	NM_023071.4	NP_075559.2:p.(Gly485Arg)	NC_000012.11:g.49919853G>C	VUS	1 lab	e626d6bc3c
19:1275583 FAM174C TGCTCCTGCTGGC>T	19	1275583	1275598	TGCTCCTGCTGGC	T	FAM174C	c.39_50del	NM_017914.4	NP_060384.3:p.(Leu17_Ala20del)	NC_000019.9:g.1275587_1275598del	VUS	1 lab	e6270ae04d
3:58155398 FLNB C>G	3	58155398	58155398	C	G	FLNB	c.7499C>G	NM_001457.4	NP_001448.2:p.(Thr2500Ser)	NC_000003.11:g.58155398C>G	(Likely) benign	1 lab	e62a8a18c9
1:179312775 SOAT1 G>C	1	179312775	179312775	G	C	SOAT1	c.987+5G>C	NM_003101.6	NP_003092.4:p.?	NC_000001.10:g.179312775G>C	(Likely) benign	1 lab	e62ccd41eb
19:14211319 PRKACA AG>A	19	14211319	14211321	AG	A	PRKACA	c.419+318del	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14211321del	VUS	1 lab	e62e12e389
16:53913782 FTO T>C	16	53913782	53913782	T	C	FTO	c.1002T>C	NM_001080432.3	NP_001073901.1:p.(Ile334=)	NC_000016.9:g.53913782T>C	(Likely) benign	1 lab	e62ea0db7b
X:151900287 MAGEA12 T>A	X	151900287	151900287	T	A	MAGEA12	c.514A>T	NM_001166387.4	NP_001159859.1:p.(Ile172Phe)	NC_000023.10:g.151900287T>A	(Likely) benign	1 lab	e62fd193dd
15:89415283 ACAN A>C	15	89415283	89415283	A	C	ACAN	c.7269A>C	NM_001369268.1	NP_001356197.1:p.(Glu2423Asp)	NC_000015.9:g.89415283A>C	VUS	1 lab	e6314ae68e
7:40027316 CDK13 ACT>A	7	40027316	40027320	ACT	A	CDK13	c.1333_1334del	NM_003718.5	NP_003709.3:p.(Leu445GlufsTer3)	NC_000007.13:g.40027319_40027320del	(Likely) pathogenic	1 lab	e631da00ce
2:88887501 EIF2AK3 A>G	2	88887501	88887501	A	G	EIF2AK3	c.1428T>C	NM_004836.7	NP_004827.4:p.(Tyr476=)	NC_000002.11:g.88887501A>G	(Likely) benign	1 lab	e63241ef0e
5:60214109 ERCC8 C>T	5	60214109	60214109	C	T	ERCC8	c.382G>A	NM_000082.4	NP_000073.1:p.(Asp128Asn)	NC_000005.9:g.60214109C>T	VUS	1 lab	e632828dfc
X:115594007 CT83 T>A	X	115594007	115594007	T	A	CT83	c.11A>T	NM_001017978.4	NP_001017978.1:p.(Tyr4Phe)	NC_000023.10:g.115594007T>A	(Likely) benign	1 lab	e632cc22f5
11:118304093 KMT2A C>T	11	118304093	118304093	C	T	KMT2A				NC_000011.9:g.118304093C>T	(Likely) benign	1 lab	e633027172
18:52966881 TCF4 T>A	18	52966881	52966881	T	A	TCF4	c.550-19994A>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52966881T>A	(Likely) benign	1 lab	e633d98e9b
19:13318686 CACNA1A TGC>T	19	13318686	13318688	TGC	T	CACNA1A	c.6960_6961del	NM_001127222.2	NP_001120694.1:p.(Gln2321AlafsTer181)	NC_000019.9:g.13318687_13318688del	VUS	1 lab	e633da6e70
12:14628836 ATF7IP A>G	12	14628836	14628836	A	G	ATF7IP	c.2875A>G	NM_018179.5	NP_060649.3:p.(Thr959Ala)	NC_000012.11:g.14628836A>G	(Likely) benign	1 lab	e63438e1e5
1:8418654 RERE ATCTCCCGCTCTCGGATCTCC>A	1	8418654	8418674	ATCTCCCGCTCTCGGATCTCC	A	RERE	c.3921_3940del	NM_001042681.2	NP_001036146.1:p.(Glu1308ProfsTer80)	NC_000001.10:g.8418655_8418674del	VUS	1 lab	e634ac81a7
11:17408819 KCNJ11 C>A	11	17408819	17408819	C	A	KCNJ11	c.820G>T	NM_000525.4	NP_000516.3:p.(Asp274Tyr)	NC_000011.9:g.17408819C>A	VUS	1 lab	e6350f23e4
9:140707864 EHMT1 T>A	9	140707864	140707864	T	A	EHMT1	c.3062T>A	NM_024757.5	NP_079033.4:p.(Ile1021Asn)	NC_000009.11:g.140707864T>A	(Likely) benign	1 lab	e6360af679
14:50585574 SOS2 CA>C	14	50585574	50585584	CA	C	SOS2	c.3490-4del	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50585584del	(Likely) benign	1 lab	e6383bf485
11:78277269 NARS2 T>G	11	78277269	78277269	T	G	NARS2	c.422A>C	NM_024678.6	NP_078954.4:p.(Gln141Pro)	NC_000011.9:g.78277269T>G	VUS	1 lab	e63a4fba10
4:187630597 FAT1 C>G	4	187630597	187630597	C	G	FAT1	c.385G>C	NM_005245.4	NP_005236.2:p.(Val129Leu)	NC_000004.11:g.187630597C>G	(Likely) benign	1 lab	2fbf9adc97
16:2160205 PKD1 C>A	16	2160205	2160205	C	A	PKD1	c.4963G>T	NM_001009944.2	NP_001009944.2:p.(Val1655Leu)	NC_000016.9:g.2160205C>A	(Likely) benign	1 lab	2fc440963c
22:20302276 DGCR6L A>T	22	20302276	20302276	A	T	DGCR6L	c.585T>A	NM_033257.4	NP_150282.2:p.(Asn195Lys)	NC_000022.10:g.20302276A>T	(Likely) benign	1 lab	e63cc77479
X:32519928 DMD C>T	X	32519928	32519928	C	T	DMD	c.2324G>A	NM_004006.3	NP_003997.2:p.(Arg775Lys)	NC_000023.10:g.32519928C>T	VUS	1 lab	e68f6a64fd
8:38271264 FGFR1 C>T	8	38271264	38271264	C	T	FGFR1	c.2351G>A	NM_023110.3	NP_075598.2:p.(Arg784Gln)	NC_000008.10:g.38271264C>T	(Likely) benign	1 lab	e63ddcdb79
14:90730122 PSMC1 C>T	14	90730122	90730122	C	T	PSMC1	c.396C>T	NM_002802.3	NP_002793.2:p.(Tyr132=)	NC_000014.8:g.90730122C>T	(Likely) benign	1 lab	e63eb0f998
2:97039065 NCAPH T>A	2	97039065	97039065	T	A	NCAPH	c.2202T>A	NM_015341.5	NP_056156.2:p.(Asp734Glu)	NC_000002.11:g.97039065T>A	VUS	1 lab	e63ec11ecc
3:5229494 EDEM1 C>T	3	5229494	5229494	C	T	EDEM1	c.4C>T	NM_014674.3	NP_055489.1:p.(Gln2Ter)	NC_000003.11:g.5229494C>T	VUS	1 lab	e63f1f69e1
1:200572990 KIF14 G>T	1	200572990	200572990	G	T	KIF14	c.1840C>A	NM_014875.3	NP_055690.1:p.(His614Asn)	NC_000001.10:g.200572990G>T	VUS	1 lab	e6409a8f73
X:83128470 CYLC1 G>A	X	83128470	83128470	G	A	CYLC1	c.754G>A	NM_021118.3	NP_066941.1:p.(Gly252Arg)	NC_000023.10:g.83128470G>A	(Likely) benign	1 lab	e641a7663f
7:47832367 PKD1L1 A>T	7	47832367	47832367	A	T	PKD1L1	c.8384T>A	NM_138295.5	NP_612152.1:p.(Leu2795Gln)	NC_000007.13:g.47832367A>T	VUS	1 lab	e6427605cc
6:65622422 EYS A>G	6	65622422	65622422	A	G	EYS	c.2596T>C	NM_001142800.2	NP_001136272.1:p.(Cys866Arg)	NC_000006.11:g.65622422A>G	VUS	1 lab	e644eff896
21:41550907 DSCAM C>T	21	41550907	41550907	C	T	DSCAM	c.2894G>A	NM_001389.5	NP_001380.2:p.(Arg965Gln)	NC_000021.8:g.41550907C>T	(Likely) benign	1 lab	e646b9f0bd
1:38287956 MTF1 G>T	1	38287956	38287956	G	T	MTF1	c.1604C>A	NM_005955.3	NP_005946.2:p.(Thr535Asn)	NC_000001.10:g.38287956G>T	(Likely) benign	1 lab	e6478c4a71
14:95566068 DICER1 TACACACACACACAC>T	14	95566068	95566109	TACACACACACACAC	T	DICER1	c.4206+35_4206+48del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566096_95566109del	(Likely) benign	1 lab	2d07c3ec39
2:86269172 POLR1A T>C	2	86269172	86269172	T	C	POLR1A	c.3412A>G	NM_015425.6	NP_056240.2:p.(Lys1138Glu)	NC_000002.11:g.86269172T>C	VUS	1 lab	e64a69efa4
2:220423104 OBSL1 G>A	2	220423104	220423104	G	A	OBSL1	c.3304C>T	NM_015311.3	NP_056126.1:p.(Arg1102Cys)	NC_000002.11:g.220423104G>A	(Likely) benign	1 lab	e64c6dfbbd
2:166908433 SCN1A T>G	2	166908433	166908433	T	G	SCN1A	c.760A>C	NM_001165963.3	NP_001159435.1:p.(Thr254Pro)	NC_000002.11:g.166908433T>G	(Likely) pathogenic	1 lab	2fc5deab5e
7:75694274 MDH2 A>G	7	75694274	75694274	A	G	MDH2	c.885+3A>G	NM_005918.3	NP_005909.2:p.?	NC_000007.13:g.75694274A>G	(Likely) benign	1 lab	2fc6c76f3f
12:111785837 CUX2 G>T	12	111785837	111785837	G	T	CUX2	c.4169G>T	NM_015267.4	NP_056082.2:p.(Ser1390Ile)	NC_000012.11:g.111785837G>T	(Likely) benign	1 lab	e652e0376a
12:58143008 CDK4 G>A	12	58143008	58143008	G	A	CDK4	c.776C>T	NM_000075.4	NP_000066.1:p.(Ser259Leu)	NC_000012.11:g.58143008G>A	VUS	1 lab	e655731f6a
5:68715310 MARVELD2 C>T	5	68715310	68715310	C	T	MARVELD2	c.98C>T	NM_001038603.3	NP_001033692.2:p.(Thr33Ile)	NC_000005.9:g.68715310C>T	(Likely) benign	1 lab	2d0a906120
14:75498886 MLH3 T>C	14	75498886	75498886	T	C	MLH3	c.3716-4A>G	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75498886T>C	VUS	1 lab	e65786c16c
10:3191919 PITRM1 C>G	10	3191919	3191919	C	G	PITRM1	c.1765G>C	NM_014889.4	NP_055704.2:p.(Ala589Pro)	NC_000010.10:g.3191919C>G	(Likely) benign	1 lab	e657e9b9e2
16:333284 PDIA2 C>T	16	333284	333284	C	T	PDIA2	c.115C>T	NM_006849.4	NP_006840.2:p.(Pro39Ser)	NC_000016.9:g.333284C>T	(Likely) benign	1 lab	e65892dfcf
2:212293178 ERBB4 T>C	2	212293178	212293178	T	C	ERBB4	c.2674A>G	NM_005235.3	NP_005226.1:p.(Ile892Val)	NC_000002.11:g.212293178T>C	(Likely) benign	1 lab	e6590f8303
17:78021156 CCDC40 G>A	17	78021156	78021156	G	A	CCDC40	c.631G>A	NM_017950.4	NP_060420.2:p.(Asp211Asn)	NC_000017.10:g.78021156G>A	VUS	1 lab	e659a8f0fb
1:24194740 FUCA1 G>A	1	24194740	24194740	G	A	FUCA1	c.37C>T	NM_000147.5	NP_000138.2:p.(Pro13Ser)	NC_000001.10:g.24194740G>A	VUS	1 lab	e65a6c45bd
7:69722674 AUTS2 G>C	7	69722674	69722674	G	C	AUTS2	c.660+123117G>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69722674G>C	VUS	1 lab	e65a79f722
2:121746051 GLI2 C>A	2	121746051	121746051	C	A	GLI2	c.2510C>A	NM_001374353.1	NP_001361282.1:p.(Ser837Tyr)	NC_000002.11:g.121746051C>A	VUS	1 lab	e65ba753a6
4:1807209 FGFR3 G>C	4	1807209	1807209	G	C	FGFR3	c.1534+6G>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807209G>C	(Likely) benign	1 lab	e65c588a34
1:205116817 DSTYK C>T	1	205116817	205116817	C	T	DSTYK	c.2659G>A	NM_015375.3	NP_056190.1:p.(Ala887Thr)	NC_000001.10:g.205116817C>T	VUS	1 lab	e65e7e506e
10:123263382 FGFR2 G>A	10	123263382	123263382	G	A	FGFR2	c.1361C>T	NM_000141.5	NP_000132.3:p.(Thr454Met)	NC_000010.10:g.123263382G>A	(Likely) benign	1 lab	e6621e562a
5:179250987 SQSTM1 T>A	5	179250987	179250987	T	A	SQSTM1	c.431T>A	NM_003900.5	NP_003891.1:p.(Val144Asp)	NC_000005.9:g.179250987T>A	VUS	1 lab	e663681aa9
17:29562642 NF1 G>A	17	29562642	29562642	G	A	NF1	c.3722G>A	NM_001042492.3	NP_001035957.1:p.(Arg1241Gln)	NC_000017.10:g.29562642G>A	VUS	1 lab	e664746e9f
20:21687501 PAX1 A>G	20	21687501	21687501	A	G	PAX1	c.712A>G	NM_001257096.2	NP_001244025.1:p.(Lys238Glu)	NC_000020.10:g.21687501A>G	VUS	1 lab	e664a3ca77
5:40765059 PRKAA1 G>A	5	40765059	40765059	G	A	PRKAA1	c.1103C>T	NM_006251.6	NP_006242.5:p.(Thr368Ile)	NC_000005.9:g.40765059G>A	VUS	1 lab	e664f943a8
1:144852476 PDE4DIP T>C	1	144852476	144852476	T	C	PDE4DIP	c.7221A>G	NM_001395426.1	NP_001382355.1:p.(Pro2407=)	NC_000001.10:g.144852476T>C	VUS	1 lab	e6665aece2
8:144998451 PLEC C>G	8	144998451	144998451	C	G	PLEC	c.5646G>C	NM_201384.3	NP_958786.1:p.(Glu1882Asp)	NC_000008.10:g.144998451C>G	(Likely) benign	1 lab	e6679c32e0
16:3338567 ZNF263 C>G	16	3338567	3338567	C	G	ZNF263	c.883C>G	NM_005741.5	NP_005732.2:p.(Pro295Ala)	NC_000016.9:g.3338567C>G	VUS	1 lab	e667c409eb
10:88476188 LDB3 A>C	10	88476188	88476188	A	C	LDB3	c.1336A>C	NM_007078.3	NP_009009.1:p.(Thr446Pro)	NC_000010.10:g.88476188A>C	(Likely) benign	1 lab	e66854794e
3:182775100 MCCC1 G>A	3	182775100	182775100	G	A	MCCC1	c.872C>T	NM_020166.5	NP_064551.3:p.(Ala291Val)	NC_000003.11:g.182775100G>A	(Likely) pathogenic	1 lab	e668ada874
13:25479850 CPAP T>C	13	25479850	25479850	T	C	CPAP	c.2326A>G	NM_018451.5	NP_060921.3:p.(Lys776Glu)	NC_000013.10:g.25479850T>C	(Likely) benign	1 lab	e66b52d333
2:46234723 PRKCE C>T	2	46234723	46234723	C	T	PRKCE	c.1186C>T	NM_005400.3	NP_005391.1:p.(Arg396Trp)	NC_000002.11:g.46234723C>T	VUS	1 lab	e66b825429
6:40399682 LRFN2 G>A	6	40399682	40399682	G	A	LRFN2	c.1171C>T	NM_020737.3	NP_065788.1:p.(Pro391Ser)	NC_000006.11:g.40399682G>A	VUS	1 lab	e66cf28672
15:38643834 SPRED1 G>A	15	38643834	38643834	G	A	SPRED1	c.1304G>A	NM_152594.3	NP_689807.1:p.(Cys435Tyr)	NC_000015.9:g.38643834G>A	VUS	1 lab	e66dcb903c
22:28501762 TTC28 C>T	22	28501762	28501762	C	T	TTC28	c.2812G>A	NM_001145418.2	NP_001138890.1:p.(Val938Met)	NC_000022.10:g.28501762C>T	VUS	1 lab	e66f398897
16:89347052 ANKRD11 G>A	16	89347052	89347052	G	A	ANKRD11	c.5898C>T	NM_013275.6	NP_037407.4:p.(Thr1966=)	NC_000016.9:g.89347052G>A	(Likely) benign	1 lab	e66fe3a9fc
1:197072536 ASPM G>A	1	197072536	197072536	G	A	ASPM	c.5845C>T	NM_018136.5	NP_060606.3:p.(His1949Tyr)	NC_000001.10:g.197072536G>A	VUS	1 lab	e670bb8bf6
2:32640569 BIRC6 C>G	2	32640569	32640569	C	G	BIRC6	c.2210C>G	NM_016252.4	NP_057336.3:p.(Thr737Ser)	NC_000002.11:g.32640569C>G	(Likely) benign	1 lab	e6710442db
5:177421276 PROP1 G>A	5	177421276	177421276	G	A	PROP1	c.173C>T	NM_006261.5	NP_006252.4:p.(Pro58Leu)	NC_000005.9:g.177421276G>A	(Likely) benign	1 lab	e674e34acb
1:213174229 ANGEL2 C>T	1	213174229	213174229	C	T	ANGEL2	c.1160G>A	NM_144567.5	NP_653168.2:p.(Arg387Gln)	NC_000001.10:g.213174229C>T	VUS	1 lab	e67605cda8
2:99155375 INPP4A A>G	2	99155375	99155375	A	G	INPP4A	c.601A>G	NM_001134225.2	NP_001127697.1:p.(Ser201Gly)	NC_000002.11:g.99155375A>G	VUS	1 lab	e67683bcb5
X:48759614 PQBP1 C>T	X	48759614	48759614	C	T	PQBP1	c.397C>T	NM_001032382.2	NP_001027554.1:p.(Arg133Trp)	NC_000023.10:g.48759614C>T	(Likely) benign	1 lab	e678ddda29
8:48885436 MCM4 T>A	8	48885436	48885436	T	A	MCM4	c.1948T>A	NM_005914.4	NP_005905.2:p.(Leu650Met)	NC_000008.10:g.48885436T>A	(Likely) benign	1 lab	2d0bfcffb0
19:40748535 AKT2 C>G	19	40748535	40748535	C	G	AKT2	c.347G>C	NM_001626.6	NP_001617.1:p.(Gly116Ala)	NC_000019.9:g.40748535C>G	(Likely) benign	1 lab	e67baa00fa
6:139609985 TXLNB G>T	6	139609985	139609985	G	T	TXLNB	c.52C>A	NM_153235.4	NP_694967.3:p.(Pro18Thr)	NC_000006.11:g.139609985G>T	VUS	1 lab	e67d356bb4
5:126156631 LMNB1 G>A	5	126156631	126156631	G	A	LMNB1	c.1190G>A	NM_005573.4	NP_005564.1:p.(Arg397His)	NC_000005.9:g.126156631G>A	VUS	1 lab	e67eaa7904
6:24495578 ALDH5A1 G>C	6	24495578	24495578	G	C	ALDH5A1	c.354G>C	NM_001080.3	NP_001071.1:p.(Lys118Asn)	NC_000006.11:g.24495578G>C	VUS	1 lab	e67eb868bb
15:40584637 PLCB2 G>T	15	40584637	40584637	G	T	PLCB2	c.2334C>A	NM_004573.3	NP_004564.2:p.(His778Gln)	NC_000015.9:g.40584637G>T	(Likely) benign	1 lab	e6801a9a0a
10:127461299 MMP21 G>A	10	127461299	127461299	G	A	MMP21	c.718C>T	NM_147191.1	NP_671724.1:p.(Arg240Trp)	NC_000010.10:g.127461299G>A	VUS	1 lab	2d0d3bf23c
3:100002585 TBC1D23 G>A	3	100002585	100002585	G	A	TBC1D23	c.406G>A	NM_001199198.3	NP_001186127.1:p.(Val136Met)	NC_000003.11:g.100002585G>A	(Likely) benign	1 lab	e6813cc5da
6:151757668 RMND1 A>T	6	151757668	151757668	A	T	RMND1	c.526T>A	NM_017909.4	NP_060379.2:p.(Phe176Ile)	NC_000006.11:g.151757668A>T	VUS	1 lab	e6831e0d2d
2:45169429 SIX3 A>AGGCGGCGGC	2	45169429	45169450	A	AGGCGGCGGC	SIX3	c.199_207dup	NM_005413.4	NP_005404.1:p.(Gly67_Gly69dup)	NC_000002.11:g.45169442_45169450dup	VUS	1 lab	e68401b5bc
X:12725019 FRMPD4 C>G	X	12725019	12725019	C	G	FRMPD4	c.1272C>G	NM_001368397.1	NP_001355326.1:p.(Phe424Leu)	NC_000023.10:g.12725019C>G	VUS	1 lab	e685ebfcce
15:26108141 ATP10A G>C	15	26108141	26108141	G	C	ATP10A	c.103C>G	NM_024490.4	NP_077816.1:p.(Pro35Ala)	NC_000015.9:g.26108141G>C	VUS	1 lab	e68610c4d7
20:10393292 MKKS C>T	20	10393292	10393292	C	T	MKKS	c.871G>A	NM_170784.3	NP_740754.1:p.(Val291Ile)	NC_000020.10:g.10393292C>T	VUS	1 lab	e68634bcc3
2:230642195 TRIP12 C>T	2	230642195	230642195	C	T	TRIP12	c.5365G>A	NM_001348323.3	NP_001335252.1:p.(Val1789Met)	NC_000002.11:g.230642195C>T	VUS	1 lab	e6888b1d3a
1:225611734 LBR C>T	1	225611734	225611734	C	T	LBR	c.44G>A	NM_002296.4	NP_002287.2:p.(Arg15Gln)	NC_000001.10:g.225611734C>T	(Likely) benign	1 lab	e688c587a5
X:41198330 DDX3X A>G	X	41198330	41198330	A	G	DDX3X	c.145A>G	NM_001356.5	NP_001347.3:p.(Thr49Ala)	NC_000023.10:g.41198330A>G	(Likely) benign	1 lab	e6895821dc
X:62885913 ARHGEF9 G>A	X	62885913	62885913	G	A	ARHGEF9	c.925-16C>T	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62885913G>A	(Likely) benign	1 lab	2fce3f9796
2:86304980 POLR1A A>C	2	86304980	86304980	A	C	POLR1A	c.1380+2T>G	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86304980A>C	VUS	1 lab	e68ae72ea9
15:48888507 FBN1 C>T	15	48888507	48888507	C	T	FBN1	c.511G>A	NM_000138.5	NP_000129.3:p.(Gly171Arg)	NC_000015.9:g.48888507C>T	VUS	1 lab	e7ce1adf77
2:128398551 LIMS2 CACAG>C	2	128398551	128398558	CACAG	C	LIMS2	c.669_672del	NM_001161403.3	NP_001154875.1:p.(Cys224ProfsTer39)	NC_000002.11:g.128398555_128398558del	VUS	1 lab	e68b586293
1:229594036 NUP133 G>A	1	229594036	229594036	G	A	NUP133	c.2852C>T	NM_018230.3	NP_060700.2:p.(Ala951Val)	NC_000001.10:g.229594036G>A	VUS	1 lab	e68f244742
19:20727512 ZNF737 A>T	19	20727512	20727512	A	T	ZNF737	c.1497T>A	NM_001159293.2	NP_001152765.1:p.(His499Gln)	NC_000019.9:g.20727512A>T	VUS	1 lab	e691496723
3:182755108 MCCC1 G>A	3	182755108	182755108	G	A	MCCC1	c.1492C>T	NM_020166.5	NP_064551.3:p.(Leu498Phe)	NC_000003.11:g.182755108G>A	VUS	1 lab	e692d18917
15:25222920 SNRPN C>T	15	25222920	25222920	C	T	SNRPN	c.421-5C>T	NM_003097.6	NP_003088.1:p.?	NC_000015.9:g.25222920C>T	VUS	1 lab	e693b3a038
2:113513762 CKAP2L T>C	2	113513762	113513762	T	C	CKAP2L	c.1186A>G	NM_152515.5	NP_689728.3:p.(Ile396Val)	NC_000002.11:g.113513762T>C	(Likely) benign	1 lab	e694d066a6
11:14486543 COPB1 A>G	11	14486543	14486543	A	G	COPB1	c.2324T>C	NM_001144061.2	NP_001137533.1:p.(Leu775Ser)	NC_000011.9:g.14486543A>G	VUS	1 lab	e69604ba09
3:172165375 GHSR C>G	3	172165375	172165375	C	G	GHSR	c.796+33G>C	NM_198407.2	NP_940799.1:p.?	NC_000003.11:g.172165375C>G	(Likely) benign	1 lab	e69726988d
10:51859785 WASHC2A G>C	10	51859785	51859785	G	C	WASHC2A	c.1596G>C	NM_001005751.3	NP_001005751.1:p.(Lys532Asn)	NC_000010.10:g.51859785G>C	(Likely) benign	1 lab	e699b6dafa
7:82545069 PCLO C>T	7	82545069	82545069	C	T	PCLO	c.12233G>A	NM_033026.6	NP_149015.2:p.(Arg4078His)	NC_000007.13:g.82545069C>T	VUS	1 lab	e699d278f1
4:88989151 PKD2 C>T	4	88989151	88989151	C	T	PKD2	c.2460C>T	NM_000297.4	NP_000288.1:p.(Ser820=)	NC_000004.11:g.88989151C>T	(Likely) benign	1 lab	2fd1eb09cc
19:42863010 MEGF8 A>G	19	42863010	42863010	A	G	MEGF8	c.5247A>G	NM_001271938.2	NP_001258867.1:p.(Ser1749=)	NC_000019.9:g.42863010A>G	(Likely) benign	1 lab	e69b1ea6dd
10:18429700 CACNB2 C>G	10	18429700	18429700	C	G	CACNB2	c.35C>G	NM_201596.3	NP_963890.2:p.(Thr12Arg)	NC_000010.10:g.18429700C>G	VUS	1 lab	e69c4acb60
3:170108895 SKIL G>A	3	170108895	170108895	G	A	SKIL	c.1743G>A	NM_005414.5	NP_005405.2:p.(Glu581=)	NC_000003.11:g.170108895G>A	VUS	1 lab	e6b35395d4
2:168102028 XIRP2 CAAG>C	2	168102028	168102035	CAAG	C	XIRP2	c.4131_4133del	NM_152381.6	NP_689594.4:p.(Glu1377del)	NC_000002.11:g.168102033_168102035del	(Likely) benign	1 lab	e69e61899d
4:1807569 FGFR3 G>A	4	1807569	1807569	G	A	FGFR3	c.1738G>A	NM_000142.5	NP_000133.1:p.(Asp580Asn)	NC_000004.11:g.1807569G>A	VUS	1 lab	e6a10ea6c0
15:25200464 SNURF A>G	15	25200464	25200464	A	G	SNURF	c.14+255A>G	NM_001394334.1	NP_001381263.1:p.?	NC_000015.9:g.25200464A>G	(Likely) benign	1 lab	e6a351e4b1
2:241690226 KIF1A G>C	2	241690226	241690226	G	C	KIF1A	c.2859-262C>G	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241690226G>C	VUS	1 lab	e6a449ba90
19:48647236 LIG1 G>A	19	48647236	48647236	G	A	LIG1	c.777-16C>T	NM_000234.1	NP_000225.1:p.?	NC_000019.9:g.48647236G>A	(Likely) benign	1 lab	2fd79b428c
10:79752963 POLR3A T>C	10	79752963	79752963	T	C	POLR3A	c.2779A>G	NM_007055.4	NP_008986.2:p.(Asn927Asp)	NC_000010.10:g.79752963T>C	VUS	1 lab	e6a73daf5a
13:28494665 PDX1 G>T	13	28494665	28494665	G	T	PDX1	c.390G>T	NM_000209.4	NP_000200.1:p.(Trp130Cys)	NC_000013.10:g.28494665G>T	VUS	1 lab	e6a827ccb8
2:179399968 TTN A>G	2	179399968	179399968	A	G	TTN	c.101374T>C	NM_001267550.2	NP_001254479.2:p.(Tyr33792His)	NC_000002.11:g.179399968A>G	(Likely) benign	1 lab	e6a904a031
2:232995474 DIS3L2 C>G	2	232995474	232995474	C	G	DIS3L2	c.702+45C>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232995474C>G	VUS	1 lab	e6aab949d2
15:22743203 GOLGA6L1 G>A	15	22743203	22743203	G	A	GOLGA6L1	c.1588G>A	NM_001001413.3	NP_001001413.3:p.(Glu530Lys)	NC_000015.9:g.22743203G>A	(Likely) benign	1 lab	e6ab1d11d8
3:125877290 ALDH1L1 G>A	3	125877290	125877290	G	A	ALDH1L1	c.320C>T	NM_012190.4	NP_036322.2:p.(Pro107Leu)	NC_000003.11:g.125877290G>A	VUS	1 lab	e6ab2e191a
X:37312842 PRRG1 C>G	X	37312842	37312842	C	G	PRRG1	c.625C>G	NM_001142395.2	NP_001135867.1:p.(Pro209Ala)	NC_000023.10:g.37312842C>G	(Likely) benign	1 lab	e6ad256ec8
10:25839898 GPR158 C>T	10	25839898	25839898	C	T	GPR158	c.1405-7C>T	NM_020752.3	NP_065803.2:p.?	NC_000010.10:g.25839898C>T	(Likely) benign	1 lab	e6af162d60
6:117248231 RFX6 C>T	6	117248231	117248231	C	T	RFX6	c.1927C>T	NM_173560.4	NP_775831.2:p.(Pro643Ser)	NC_000006.11:g.117248231C>T	(Likely) benign	1 lab	e6b0280eb2
16:2140131 PKD1 T>C	16	2140131	2140131	T	C	PKD1	c.12509A>G	NM_001009944.3	NP_001009944.3:p.(Lys4170Arg)	NC_000016.9:g.2140131T>C	VUS	1 lab	e6b1b6a6f3
8:48733471 PRKDC G>A	8	48733471	48733471	G	A	PRKDC	c.9145C>T	NM_006904.7	NP_008835.5:p.(Leu3049=)	NC_000008.10:g.48733471G>A	(Likely) benign	1 lab	e6b347bd5c
22:31330790 MORC2 T>C	22	31330790	31330790	T	C	MORC2	c.2171A>G	NM_001303256.3	NP_001290185.1:p.(Glu724Gly)	NC_000022.10:g.31330790T>C	(Likely) benign	1 lab	e6b506bf3f
X:54209156 FAM120C T>C	X	54209156	54209156	T	C	FAM120C	c.476A>G	NM_017848.6	NP_060318.4:p.(Tyr159Cys)	NC_000023.10:g.54209156T>C	VUS	1 lab	e6b5bb96cf
12:24048882 SOX5 C>T	12	24048882	24048882	C	T	SOX5	c.115G>A	NM_006940.6	NP_008871.3:p.(Val39Met)	NC_000012.11:g.24048882C>T	(Likely) benign	1 lab	e6b7deb78c
3:145804702 PLOD2 CAT>C	3	145804702	145804706	CAT	C	PLOD2	c.1006-9_1006-8del	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145804705_145804706del	(Likely) benign	1 lab	e6b836df32
2:228228488 TM4SF20 G>T	2	228228488	228228488	G	T	TM4SF20	c.642C>A	NM_024795.4	NP_079071.2:p.(Phe214Leu)	NC_000002.11:g.228228488G>T	(Likely) benign	1 lab	e6b8402980
17:36091829 HNF1B T>C	17	36091829	36091829	T	C	HNF1B	c.810-8A>G	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36091829T>C	(Likely) benign	1 lab	e6b8e6a23c
12:2676979 CACNA1C C>G	12	2676979	2676979	C	G	CACNA1C	c.1895+19C>G	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2676979C>G	(Likely) benign	1 lab	2fd7c69220
16:30749342 SRCAP G>A	16	30749342	30749342	G	A	SRCAP	c.7981G>A	NM_006662.3	NP_006653.2:p.(Asp2661Asn)	NC_000016.9:g.30749342G>A	(Likely) benign	1 lab	e6bb70aa0a
X:153036971 PLXNB3 C>T	X	153036971	153036971	C	T	PLXNB3	c.2378C>T	NM_005393.3	NP_005384.2:p.(Pro793Leu)	NC_000023.10:g.153036971C>T	(Likely) benign	1 lab	e6bb721324
2:220362891 SPEGNB G>C	2	220362891	220362891	G	C	SPEGNB	c.697G>C	NM_001286811.2	NP_001273740.1:p.(Ala233Pro)	NC_000002.11:g.220362891G>C	VUS	1 lab	e6bf8786ba
2:179529213 TTN T>C	2	179529213	179529213	T	C	TTN	c.36254A>G	NM_001267550.2	NP_001254479.2:p.(Gln12085Arg)	NC_000002.11:g.179529213T>C	(Likely) benign	1 lab	e6c1788796
11:77817863 ALG8 G>T	11	77817863	77817863	G	T	ALG8	c.1168C>A	NM_024079.5	NP_076984.2:p.(Leu390Ile)	NC_000011.9:g.77817863G>T	VUS	1 lab	e6c1a9490e
6:26157271 H1-4 A>G	6	26157271	26157271	A	G	H1-4	c.653A>G	NM_005321.3	NP_005312.1:p.(Lys218Arg)	NC_000006.11:g.26157271A>G	(Likely) benign	1 lab	e6c283992e
17:7751573 KDM6B T>C	17	7751573	7751573	T	C	KDM6B	c.1967T>C	NM_001348716.2	NP_001335645.1:p.(Val656Ala)	NC_000017.10:g.7751573T>C	VUS	1 lab	e6c49ea987
19:50918812 POLD1 T>C	19	50918812	50918812	T	C	POLD1	c.2682T>C	NM_002691.4	NP_002682.2:p.(Tyr894=)	NC_000019.9:g.50918812T>C	VUS	1 lab	e798a38ee4
18:34092505 FHOD3 G>A	18	34092505	34092505	G	A	FHOD3	c.510G>A	NM_025135.5	NP_079411.2:p.(Arg170=)	NC_000018.9:g.34092505G>A	(Likely) benign	1 lab	2d14aa573c
X:153247919 TMEM187 G>A	X	153247919	153247919	G	A	TMEM187	c.406G>A	NM_003492.3	NP_003483.1:p.(Gly136Ser)	NC_000023.10:g.153247919G>A	VUS	1 lab	e6c518c1ff
1:156851335 NTRK1 G>T	1	156851335	156851335	G	T	NTRK1	c.2292G>T	NM_002529.4	NP_002520.2:p.(Trp764Cys)	NC_000001.10:g.156851335G>T	VUS	1 lab	e6c6385170
3:136002781 PCCB A>G	3	136002781	136002781	A	G	PCCB	c.646A>G	NM_000532.5	NP_000523.2:p.(Met216Val)	NC_000003.11:g.136002781A>G	VUS	1 lab	e6c69bfbdf
16:614703 PRR35 G>C	16	614703	614703	G	C	PRR35	c.1112G>C	NM_145270.3	NP_660313.1:p.(Trp371Ser)	NC_000016.9:g.614703G>C	VUS	1 lab	e6c6a2e4fa
13:28498781 PDX1 T>C	13	28498781	28498781	T	C	PDX1	c.795T>C	NM_000209.4	NP_000200.1:p.(Leu265=)	NC_000013.10:g.28498781T>C	(Likely) benign	1 lab	e6c733a2cd
22:19346998 HIRA C>A	22	19346998	19346998	C	A	HIRA	c.2095G>T	NM_003325.4	NP_003316.3:p.(Asp699Tyr)	NC_000022.10:g.19346998C>A	VUS	1 lab	e6cabf3ab3
X:34149639 FAM47A T>C	X	34149639	34149639	T	C	FAM47A	c.757A>G	NM_203408.4	NP_981953.2:p.(Ile253Val)	NC_000023.10:g.34149639T>C	(Likely) benign	1 lab	e6cace4dbb
7:98800848 KPNA7 T>A	7	98800848	98800848	T	A	KPNA7	c.82A>T	NM_001145715.3	NP_001139187.1:p.(Arg28Trp)	NC_000007.13:g.98800848T>A	VUS	1 lab	e6cc2653e8
2:176957816 HOXD13 G>GGCT	2	176957816	176957819	G	GGCT	HOXD13	c.200_201insTGC	NM_000523.4	NP_000514.2:p.(Ala71dup)	NC_000002.11:g.176957818_176957819insTGC	(Likely) benign	1 lab	e6cd8631cc
19:15303071 NOTCH3 G>A	19	15303071	15303071	G	A	NOTCH3	c.379C>T	NM_000435.3	NP_000426.2:p.(Pro127Ser)	NC_000019.9:g.15303071G>A	VUS	1 lab	e6ce3ad427
X:123468056 TEX13D T>G	X	123468056	123468056	T	G	TEX13D	c.1289T>G	NM_001355534.2	NP_001342463.1:p.(Ile430Ser)	NC_000023.10:g.123468056T>G	VUS	1 lab	e6cf781fdb
14:20851708 TEP1 T>C	14	20851708	20851708	T	C	TEP1	c.3806A>G	NM_007110.5	NP_009041.2:p.(Asp1269Gly)	NC_000014.8:g.20851708T>C	(Likely) benign	1 lab	e6cfe199ce
12:75434890 KCNC2 A>C	12	75434890	75434890	A	C	KCNC2	c.*1995T>G	NM_139137.4	NP_631875.1:p.?	NC_000012.11:g.75434890A>C	VUS	1 lab	e6d019ce36
5:14756053 ANKH C>A	5	14756053	14756053	C	A	ANKH	c.433G>T	NM_054027.6	NP_473368.1:p.(Ala145Ser)	NC_000005.9:g.14756053C>A	VUS	1 lab	e6d2cc382c
4:15517637 CC2D2A C>T	4	15517637	15517637	C	T	CC2D2A	c.1017+10C>T	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15517637C>T	(Likely) benign	1 lab	e6d2d7378a
X:153593530 FLNA C>T	X	153593530	153593530	C	T	FLNA	c.1665G>A	NM_001110556.2	NP_001104026.1:p.(Thr555=)	NC_000023.10:g.153593530C>T	(Likely) benign	1 lab	2fd9edb786
2:96780762 ADRA2B A>C	2	96780762	96780762	A	C	ADRA2B	c.1136T>G	NM_000682.7	NP_000673.2:p.(Val379Gly)	NC_000002.11:g.96780762A>C	VUS	1 lab	e6d473b64b
15:96877743 NR2F2 T>A	15	96877743	96877743	T	A	NR2F2	c.881T>A	NM_021005.4	NP_066285.1:p.(Ile294Asn)	NC_000015.9:g.96877743T>A	VUS	1 lab	e6d4c055c2
10:78880562 KCNMA1 G>A	10	78880562	78880562	G	A	KCNMA1	c.884+169C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78880562G>A	(Likely) benign	1 lab	2fdcea2662
10:88451829 LDB3 G>A	10	88451829	88451829	G	A	LDB3	c.859+7G>A	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88451829G>A	(Likely) benign	1 lab	e6d4f9df41
15:89401443 ACAN G>A	15	89401443	89401443	G	A	ACAN	c.5627G>A	NM_001369268.1	NP_001356197.1:p.(Gly1876Glu)	NC_000015.9:g.89401443G>A	VUS	1 lab	e6d708f910
11:68133157 LRP5 G>A	11	68133157	68133157	G	A	LRP5	c.1002G>A	NM_002335.4	NP_002326.2:p.(Arg334=)	NC_000011.9:g.68133157G>A	(Likely) benign	1 lab	e6d8eca68c
20:34797474 EPB41L1 G>A	20	34797474	34797474	G	A	EPB41L1	c.1733G>A	NM_012156.2	NP_036288.2:p.(Ser578Asn)	NC_000020.10:g.34797474G>A	VUS	1 lab	e6dc74adf5
16:2159004 PKD1 A>G	16	2159004	2159004	A	G	PKD1	c.6164T>C	NM_001009944.3	NP_001009944.3:p.(Leu2055Pro)	NC_000016.9:g.2159004A>G	VUS	1 lab	e6dce4fdaa
10:116853564 ATRNL1 G>T	10	116853564	116853564	G	T	ATRNL1	c.55G>T	NM_207303.4	NP_997186.1:p.(Val19Leu)	NC_000010.10:g.116853564G>T	(Likely) benign	1 lab	e6dd495920
17:7250550 ACAP1 C>T	17	7250550	7250550	C	T	ACAP1	c.1332C>T	NM_014716.4	NP_055531.1:p.(Ser444=)	NC_000017.10:g.7250550C>T	VUS	1 lab	e6de52c3c4
5:14487613 TRIO GGGC>G	5	14487613	14487631	GGGC	G	TRIO	c.6892_6894del	NM_007118.4	NP_009049.2:p.(Gly2298del)	NC_000005.9:g.14487629_14487631del	(Likely) benign	1 lab	e6df1d9770
9:99694583 NUTM2G ACT>A	9	99694583	99694586	ACT	A	NUTM2G	c.598_599del	NM_001170741.3	NP_001164212.1:p.(Ser200LeufsTer2)	NC_000009.11:g.99694585_99694586del	VUS	1 lab	e6e039578f
2:152419274 NEB G>A	2	152419274	152419274	G	A	NEB	c.18742C>T	NM_001164508.2	NP_001157980.2:p.(Pro6248Ser)	NC_000002.11:g.152419274G>A	VUS	1 lab	e6e0cf8767
2:179457243 TTN T>C	2	179457243	179457243	T	C	TTN	c.59489A>G	NM_001267550.2	NP_001254479.2:p.(Lys19830Arg)	NC_000002.11:g.179457243T>C	VUS	1 lab	e6e185578d
1:109795330 CELSR2 C>T	1	109795330	109795330	C	T	CELSR2	c.2629C>T	NM_001408.3	NP_001399.1:p.(Arg877Trp)	NC_000001.10:g.109795330C>T	VUS	1 lab	d9953304d1
5:86658387 RASA1 A>G	5	86658387	86658387	A	G	RASA1	c.1352A>G	NM_002890.3	NP_002881.1:p.(Asn451Ser)	NC_000005.9:g.86658387A>G	(Likely) benign	1 lab	e6e1cd4f97
19:51192120 SHANK1 A>G	19	51192120	51192120	A	G	SHANK1	c.2153T>C	NM_016148.5	NP_057232.2:p.(Met718Thr)	NC_000019.9:g.51192120A>G	(Likely) benign	1 lab	e6e20e0b87
8:144996997 PLEC G>A	8	144996997	144996997	G	A	PLEC	c.7100C>T	NM_201384.3	NP_958786.1:p.(Thr2367Met)	NC_000008.10:g.144996997G>A	VUS	1 lab	e6e2c7aa2f
7:98506526 TRRAP C>T	7	98506526	98506526	C	T	TRRAP	c.1291C>T	NM_001375524.1	NP_001362453.1:p.(Arg431Cys)	NC_000007.13:g.98506526C>T	VUS	1 lab	e6e2f37ce1
7:42006009 GLI3 T>G	7	42006009	42006009	T	G	GLI3	c.2662A>C	NM_000168.6	NP_000159.3:p.(Asn888His)	NC_000007.13:g.42006009T>G	(Likely) benign	1 lab	e6e3c50987
9:37761961 TRMT10B A>C	9	37761961	37761961	A	C	TRMT10B	c.33A>C	NM_144964.4	NP_659401.2:p.(Lys11Asn)	NC_000009.11:g.37761961A>C	(Likely) benign	1 lab	e6e49bb48e
X:24742497 POLA1 A>G	X	24742497	24742497	A	G	POLA1	c.1246A>G	NM_001330360.2	NP_001317289.1:p.(Met416Val)	NC_000023.10:g.24742497A>G	(Likely) benign	1 lab	e6e548a456
10:24722038 KIAA1217 C>G	10	24722038	24722038	C	G	KIAA1217	c.668C>G	NM_019590.5	NP_062536.2:p.(Thr223Ser)	NC_000010.10:g.24722038C>G	(Likely) benign	1 lab	e6e55cbaba
12:2800141 CACNA1C G>A	12	2800141	2800141	G	A	CACNA1C	c.6193G>A	NM_000719.7	NP_000710.5:p.(Asp2065Asn)	NC_000012.11:g.2800141G>A	(Likely) benign	1 lab	e6e63610cd
3:195505820 MUC4 CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGG>C	3	195505820	195505960	CAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGG	C	MUC4	c.12491_12630del	NM_018406.7	NP_060876.5:p.(Thr4164SerfsTer103)	NC_000003.11:g.195505821_195505960del	VUS	1 lab	e6e7b4198c
2:225370702 CUL3 CAATA>C	2	225370702	225370711	CAATA	C	CUL3	c.1173_1176del	NM_003590.5	NP_003581.1:p.(Phe391LeufsTer5)	NC_000002.11:g.225370708_225370711del	(Likely) pathogenic	1 lab	e6e815d724
8:100711936 VPS13B G>A	8	100711936	100711936	G	A	VPS13B	c.6230G>A	NM_152564.5	NP_689777.3:p.(Arg2077His)	NC_000008.10:g.100711936G>A	(Likely) benign	1 lab	e6e92a211e
5:79616942 SPZ1 T>C	5	79616942	79616942	T	C	SPZ1	c.908T>C	NM_032567.4	NP_115956.3:p.(Leu303Pro)	NC_000005.9:g.79616942T>C	VUS	1 lab	e6e92c1de3
15:89379516 ACAN A>T	15	89379516	89379516	A	T	ACAN	c.70+9A>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89379516A>T	(Likely) benign	1 lab	e6e9ae9908
1:24194662 FUCA1 G>A	1	24194662	24194662	G	A	FUCA1	c.115C>T	NM_000147.5	NP_000138.2:p.(Pro39Ser)	NC_000001.10:g.24194662G>A	VUS	1 lab	e6ece021c3
6:32489937 HLA-DRB5 G>GAGTA	6	32489937	32489938	G	GAGTA	HLA-DRB5	c.114_115insTACT	NM_002125.4	NP_002116.2:p.(Gln39TyrfsTer4)	NC_000006.11:g.32489937_32489938insAGTA	(Likely) benign	1 lab	e6ed61ce71
21:47421289 COL6A1 G>A	21	47421289	47421289	G	A	COL6A1	c.1945G>A	NM_001848.3	NP_001839.2:p.(Glu649Lys)	NC_000021.8:g.47421289G>A	VUS	1 lab	e6ed6d3ffb
19:4543641 SEMA6B G>GC	19	4543641	4543648	G	GC	SEMA6B	c.2638dup	NM_032108.4	NP_115484.2:p.(Ala880GlyfsTer144)	NC_000019.9:g.4543648dup	VUS	1 lab	e6ee2f407a
7:31013769 GHRHR G>A	7	31013769	31013769	G	A	GHRHR	c.751+16G>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013769G>A	VUS	1 lab	e6ee55fbec
6:102307158 GRIK2 T>A	6	102307158	102307158	T	A	GRIK2	c.1318-4T>A	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102307158T>A	VUS	1 lab	e6f166a2ad
3:38912969 SCN11A A>C	3	38912969	38912969	A	C	SCN11A	c.3726T>G	NM_001349253.2	NP_001336182.1:p.(Asn1242Lys)	NC_000003.11:g.38912969A>C	VUS	1 lab	e6f17dba12
1:22158219 HSPG2 C>T	1	22158219	22158219	C	T	HSPG2	c.11278G>A	NM_005529.7	NP_005520.4:p.(Val3760Met)	NC_000001.10:g.22158219C>T	VUS	1 lab	e6f26e45c4
5:37057386 NIPBL C>G	5	37057386	37057386	C	G	NIPBL	c.7362C>G	NM_133433.4	NP_597677.2:p.(Asp2454Glu)	NC_000005.9:g.37057386C>G	VUS	1 lab	e6f2f118aa
10:76603242 KAT6B C>T	10	76603242	76603242	C	T	KAT6B	c.621+6C>T	NM_012330.4	NP_036462.2:p.?	NC_000010.10:g.76603242C>T	(Likely) benign	1 lab	e6ffc6d7c2
22:19349416 HIRA C>T	22	19349416	19349416	C	T	HIRA	c.1814G>A	NM_003325.4	NP_003316.3:p.(Arg605Gln)	NC_000022.10:g.19349416C>T	(Likely) benign	1 lab	e6f4edff3b
4:114280347 ANK2 G>A	4	114280347	114280347	G	A	ANK2	c.10573G>A	NM_001148.6	NP_001139.3:p.(Glu3525Lys)	NC_000004.11:g.114280347G>A	VUS	1 lab	e6f508f319
7:92731668 SAMD9 A>C	7	92731668	92731668	A	C	SAMD9	c.3743T>G	NM_017654.4	NP_060124.2:p.(Leu1248Ter)	NC_000007.13:g.92731668A>C	VUS	1 lab	e6f7aa9588
16:29824808 PRRT2 C>T	16	29824808	29824808	C	T	PRRT2	c.433C>T	NM_145239.3	NP_660282.2:p.(Arg145Trp)	NC_000016.9:g.29824808C>T	(Likely) benign	1 lab	e6f9b6fa6a
15:85370748 ALPK3 AGAG>A	15	85370748	85370754	AGAG	A	ALPK3	c.220_222del	NM_020778.5	NP_065829.4:p.(Glu74del)	NC_000015.9:g.85370752_85370754del	VUS	1 lab	e6fac6c42b
12:32908705 YARS2 G>T	12	32908705	32908705	G	T	YARS2	c.104C>A	NM_001040436.3	NP_001035526.1:p.(Ala35Asp)	NC_000012.11:g.32908705G>T	(Likely) benign	1 lab	e6fb899e83
19:56552326 NLRP5 G>A	19	56552326	56552326	G	A	NLRP5	c.2825G>A	NM_153447.4	NP_703148.4:p.(Ser942Asn)	NC_000019.9:g.56552326G>A	(Likely) benign	1 lab	e6fbdcaccc
6:56504861 DST G>A	6	56504861	56504861	G	A	DST	c.2491-6C>T	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56504861G>A	(Likely) benign	1 lab	e6fc68ebe9
15:51510851 CYP19A1 T>A	15	51510851	51510851	T	A	CYP19A1	c.630A>T	NM_000103.4	NP_000094.2:p.(Glu210Asp)	NC_000015.9:g.51510851T>A	VUS	1 lab	e6fee25272
11:64071242 CATSPERZ C>T	11	64071242	64071242	C	T	CATSPERZ	c.433-3C>T	NM_001039496.2	NP_001034585.1:p.?	NC_000011.9:g.64071242C>T	(Likely) benign	1 lab	e6ff9d5460
17:73729638 ITGB4 G>A	17	73729638	73729638	G	A	ITGB4	c.1522G>A	NM_000213.5	NP_000204.3:p.(Glu508Lys)	NC_000017.10:g.73729638G>A	(Likely) benign	1 lab	e70041a83a
15:59063785 MINDY2 C>T	15	59063785	59063785	C	T	MINDY2	c.191C>T	NM_001040450.3	NP_001035540.1:p.(Pro64Leu)	NC_000015.9:g.59063785C>T	VUS	1 lab	e7014a620a
1:103480102 COL11A1 C>T	1	103480102	103480102	C	T	COL11A1	c.1537G>A	NM_001854.4	NP_001845.3:p.(Glu513Lys)	NC_000001.10:g.103480102C>T	VUS	1 lab	e702210cc8
1:40546166 PPT1 G>GA	1	40546166	40546175	G	GA	PPT1	c.537-8dup	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40546175dup	(Likely) benign	1 lab	2fdf3d1ebc
2:39239313 SOS1 T>C	2	39239313	39239313	T	C	SOS1	c.2344A>G	NM_005633.4	NP_005624.2:p.(Ile782Val)	NC_000002.11:g.39239313T>C	VUS	1 lab	2d18367c48
21:46893840 COL18A1 A>AC	21	46893840	46893845	A	AC	COL18A1	c.688dup	NM_001379500.1	NP_001366429.1:p.(Gln230ProfsTer14)	NC_000021.8:g.46893845dup	VUS	1 lab	e705ae2327
5:94803643 SKIC3 T>C	5	94803643	94803643	T	C	SKIC3	c.4547A>G	NM_014639.4	NP_055454.1:p.(Lys1516Arg)	NC_000005.9:g.94803643T>C	(Likely) benign	1 lab	e7065db444
5:176720900 NSD1 G>A	5	176720900	176720900	G	A	NSD1	c.6531G>A	NM_022455.5	NP_071900.2:p.(Met2177Ile)	NC_000005.9:g.176720900G>A	VUS	1 lab	e7070f2d83
17:34948470 DHRS11 G>T	17	34948470	34948470	G	T	DHRS11	c.31G>T	NM_024308.4	NP_077284.2:p.(Asp11Tyr)	NC_000017.10:g.34948470G>T	(Likely) benign	1 lab	e707b595f8
13:31037838 HMGB1 A>T	13	31037838	31037838	A	T	HMGB1	c.-14-7T>A	NM_002128.7	NP_002119.1:p.?	NC_000013.10:g.31037838A>T	(Likely) benign	1 lab	e7083896f8
5:14487719 TRIO G>A	5	14487719	14487719	G	A	TRIO	c.6982G>A	NM_007118.4	NP_009049.2:p.(Gly2328Ser)	NC_000005.9:g.14487719G>A	(Likely) benign	1 lab	e7097ecad6
7:141720870 MGAM G>A	7	141720870	141720870	G	A	MGAM	c.545G>A	NM_001365693.1	NP_001352622.1:p.(Arg182His)	NC_000007.13:g.141720870G>A	(Likely) benign	1 lab	e70a238595
17:76114034 TMC6 G>A	17	76114034	76114034	G	A	TMC6	c.1888-18C>T	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76114034G>A	(Likely) benign	1 lab	33839da2b5
12:124229312 ATP6V0A2 A>G	12	124229312	124229312	A	G	ATP6V0A2	c.1495A>G	NM_012463.4	NP_036595.2:p.(Lys499Glu)	NC_000012.11:g.124229312A>G	(Likely) benign	1 lab	e70afefda0
11:103041640 DYNC2H1 G>A	11	103041640	103041640	G	A	DYNC2H1	c.5177G>A	NM_001377.3	NP_001368.2:p.(Arg1726Gln)	NC_000011.9:g.103041640G>A	(Likely) benign	1 lab	e70bbab5b8
17:2583532 PAFAH1B1 C>A	17	2583532	2583532	C	A	PAFAH1B1	c.1077C>A	NM_000430.4	NP_000421.1:p.(Asp359Glu)	NC_000017.10:g.2583532C>A	VUS	1 lab	e70c8aa393
1:41249817 KCNQ4 G>A	1	41249817	41249817	G	A	KCNQ4	c.52G>A	NM_004700.4	NP_004691.2:p.(Ala18Thr)	NC_000001.10:g.41249817G>A	(Likely) benign	1 lab	e70cef7fab
11:17485134 ABCC8 T>C	11	17485134	17485134	T	C	ABCC8	c.430A>G	NM_000352.6	NP_000343.2:p.(Thr144Ala)	NC_000011.9:g.17485134T>C	VUS	1 lab	e70e55fc2e
X:153631291 DNASE1L1 C>T	X	153631291	153631291	C	T	DNASE1L1	c.766G>A	NM_001303620.2	NP_001290549.1:p.(Glu256Lys)	NC_000023.10:g.153631291C>T	VUS	1 lab	e7108781db
4:191003273 MISSING A>T	4	191003273	191003273	A	T	MISSING				NC_000004.11:g.191003273A>T	VUS	1 lab	e7114e6123
12:13716511 GRIN2B T>A	12	13716511	13716511	T	A	GRIN2B	c.3661A>T	NM_000834.5	NP_000825.2:p.(Lys1221Ter)	NC_000012.11:g.13716511T>A	VUS	1 lab	e711c29544
6:30681431 MDC1 G>C	6	30681431	30681431	G	C	MDC1	c.581C>G	NM_014641.3	NP_055456.2:p.(Pro194Arg)	NC_000006.11:g.30681431G>C	(Likely) benign	1 lab	e713084b6c
19:50364768 PNKP CTG>C	19	50364768	50364772	CTG	C	PNKP	c.1387-3_1387-2del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50364771_50364772del	VUS	1 lab	e71324cd65
X:56291853 KLF8 A>G	X	56291853	56291853	A	G	KLF8	c.322A>G	NM_007250.5	NP_009181.2:p.(Ile108Val)	NC_000023.10:g.56291853A>G	(Likely) benign	1 lab	e713fef724
4:104068584 CENPE T>C	4	104068584	104068584	T	C	CENPE	c.4063A>G	NM_001813.3	NP_001804.2:p.(Lys1355Glu)	NC_000004.11:g.104068584T>C	(Likely) pathogenic	1 lab	e71779581e
16:1411941 GNPTG A>G	16	1411941	1411941	A	G	GNPTG	c.302A>G	NM_032520.5	NP_115909.1:p.(Tyr101Cys)	NC_000016.9:g.1411941A>G	VUS	1 lab	e71d23d3de
12:32136143 RESF1 A>G	12	32136143	32136143	A	G	RESF1	c.2254A>G	NM_018169.4	NP_060639.4:p.(Ile752Val)	NC_000012.11:g.32136143A>G	(Likely) benign	1 lab	e71e774fbe
15:43277144 UBR1 AAAG>A	15	43277144	43277149	AAAG	A	UBR1	c.3998-7_3998-5del	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43277147_43277149del	VUS	1 lab	e71ecf27bf
11:4104531 STIM1 G>A	11	4104531	4104531	G	A	STIM1	c.1277G>A	NM_001382567.1	NP_001369496.1:p.(Arg426His)	NC_000011.9:g.4104531G>A	VUS	1 lab	e71f5c78f4
2:44145469 LRPPRC G>A	2	44145469	44145469	G	A	LRPPRC	c.2965C>T	NM_133259.4	NP_573566.2:p.(Arg989Cys)	NC_000002.11:g.44145469G>A	VUS	1 lab	e720404cab
2:179585184 TTN C>T	2	179585184	179585184	C	T	TTN	c.23305G>A	NM_001267550.2	NP_001254479.2:p.(Val7769Ile)	NC_000002.11:g.179585184C>T	VUS	1 lab	e720beeafb
6:43044661 PTK7 C>T	6	43044661	43044661	C	T	PTK7	c.79+356C>T	NM_002821.5	NP_002812.2:p.?	NC_000006.11:g.43044661C>T	(Likely) benign	1 lab	e720c09385
19:1531836 PLK5 G>T	19	1531836	1531836	G	T	PLK5	c.668G>T	NM_001243079.2	NP_001230008.1:p.(Gly223Val)	NC_000019.9:g.1531836G>T	(Likely) benign	1 lab	e721524305
2:48033891 MSH6 TTTTTTTTTTTTTTTTTTAA>T	2	48033891	48033914	TTTTTTTTTTTTTTTTTTAA	T	MSH6	c.4002-22_4002-4del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033896_48033914del	(Likely) pathogenic	1 lab	e722454e0c
5:42719145 GHR C>T	5	42719145	42719145	C	T	GHR	c.1536C>T	NM_000163.5	NP_000154.1:p.(Ser512=)	NC_000005.9:g.42719145C>T	(Likely) benign	1 lab	e724288a96
14:92471200 TRIP11 T>C	14	92471200	92471200	T	C	TRIP11	c.3120A>G	NM_004239.4	NP_004230.2:p.(Ile1040Met)	NC_000014.8:g.92471200T>C	(Likely) benign	1 lab	e7257b35f8
6:152688518 SYNE1 C>T	6	152688518	152688518	C	T	SYNE1	c.9808-1G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152688518C>T	VUS	1 lab	e725d3dc1c
9:109690905 ZNF462 A>G	9	109690905	109690905	A	G	ZNF462	c.4712A>G	NM_021224.6	NP_067047.4:p.(Lys1571Arg)	NC_000009.11:g.109690905A>G	VUS	1 lab	e72601f381
16:20802007 ACSM3 C>G	16	20802007	20802007	C	G	ACSM3	c.1323C>G	NM_005622.4	NP_005613.2:p.(Tyr441Ter)	NC_000016.9:g.20802007C>G	(Likely) benign	1 lab	e7291dce5b
14:88434737 GALC C>T	14	88434737	88434737	C	T	GALC	c.850G>A	NM_000153.4	NP_000144.2:p.(Gly284Ser)	NC_000014.8:g.88434737C>T	(Likely) pathogenic	1 lab	e729a8cd8c
15:99434685 IGF1R G>A	15	99434685	99434685	G	A	IGF1R	c.772G>A	NM_000875.5	NP_000866.1:p.(Gly258Ser)	NC_000015.9:g.99434685G>A	VUS	1 lab	e72b104cfd
4:39505545 UGDH G>A	4	39505545	39505545	G	A	UGDH	c.1324C>T	NM_003359.4	NP_003350.1:p.(Arg442Trp)	NC_000004.11:g.39505545G>A	(Likely) pathogenic	1 lab	e72c138574
12:48383544 COL2A1 C>T	12	48383544	48383544	C	T	COL2A1	c.1068G>A	NM_001844.5	NP_001835.3:p.(Pro356=)	NC_000012.11:g.48383544C>T	(Likely) benign	1 lab	e72cec6219
13:52593222 ALG11 A>G	13	52593222	52593222	A	G	ALG11	c.218A>G	NM_001004127.3	NP_001004127.2:p.(Asn73Ser)	NC_000013.10:g.52593222A>G	VUS	1 lab	e72d32ff30
19:7600729 PNPLA6 G>T	19	7600729	7600729	G	T	PNPLA6	c.55G>T	NM_001166114.2	NP_001159586.1:p.(Glu19Ter)	NC_000019.9:g.7600729G>T	(Likely) pathogenic	1 lab	e72e3ebff4
9:2056810 SMARCA2 A>G	9	2056810	2056810	A	G	SMARCA2	c.1312A>G	NM_003070.5	NP_003061.3:p.(Ile438Val)	NC_000009.11:g.2056810A>G	(Likely) benign	1 lab	e72e6666dc
12:48298558 VDR C>A	12	48298558	48298558	C	A	VDR	c.-84+180G>T	NM_000376.3	NP_000367.1:p.?	NC_000012.11:g.48298558C>A	VUS	1 lab	e72ef68c6e
1:23637267 HNRNPR C>CA	1	23637267	23637268	C	CA	HNRNPR	c.1581dup	NM_005826.5	NP_005817.1:p.(Gly528TrpfsTer16)	NC_000001.10:g.23637268dup	VUS	1 lab	e72ff696c6
4:96025586 BMPR1B G>A	4	96025586	96025586	G	A	BMPR1B	c.11G>A	NM_001203.3	NP_001194.1:p.(Arg4Gln)	NC_000004.11:g.96025586G>A	VUS	1 lab	e72ff78c73
9:140127546 SLC34A3 G>C	9	140127546	140127546	G	C	SLC34A3	c.539G>C	NM_001177316.2	NP_001170787.2:p.(Gly180Ala)	NC_000009.11:g.140127546G>C	(Likely) benign	1 lab	e731008ccf
12:6686947 CHD4 T>TCA	12	6686947	6686950	T	TCA	CHD4	c.5361+2_5361+3dup	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6686949_6686950dup	VUS	1 lab	e733975c39
15:90185484 KIF7 G>C	15	90185484	90185484	G	C	KIF7	c.2344C>G	NM_198525.3	NP_940927.2:p.(Arg782Gly)	NC_000015.9:g.90185484G>C	(Likely) benign	1 lab	e733af35d1
17:43473587 ARHGAP27 T>C	17	43473587	43473587	T	C	ARHGAP27	c.2237A>G	NM_001282290.2	NP_001269219.1:p.(Tyr746Cys)	NC_000017.10:g.43473587T>C	VUS	1 lab	e733f67730
11:555037 LMNTD2 G>C	11	555037	555037	G	C	LMNTD2	c.1848C>G	NM_173573.3	NP_775844.2:p.(Phe616Leu)	NC_000011.9:g.555037G>C	(Likely) benign	1 lab	e734a78dc2
3:42730366 KLHL40 G>A	3	42730366	42730366	G	A	KLHL40	c.1427G>A	NM_152393.4	NP_689606.2:p.(Cys476Tyr)	NC_000003.11:g.42730366G>A	VUS	1 lab	e737656b0f
1:160106110 ATP1A2 C>T	1	160106110	160106110	C	T	ATP1A2	c.2513C>T	NM_000702.4	NP_000693.1:p.(Thr838Met)	NC_000001.10:g.160106110C>T	(Likely) benign	1 lab	e73b0aef91
7:2416588 EIF3B G>T	7	2416588	2416588	G	T	EIF3B	c.2032G>T	NM_001037283.2	NP_001032360.1:p.(Asp678Tyr)	NC_000007.13:g.2416588G>T	VUS	1 lab	e73b0fae26
1:26759384 DHDDS T>G	1	26759384	26759384	T	G	DHDDS	c.-53T>G	NM_205861.3	NP_995583.1:p.?	NC_000001.10:g.26759384T>G	VUS	1 lab	e73cc54184
13:28498720 PDX1 G>GA	13	28498720	28498721	G	GA	PDX1	c.735dup	NM_000209.4	NP_000200.1:p.(Gly246ArgfsTer21)	NC_000013.10:g.28498721dup	VUS	1 lab	e73cdcfeeb
1:237048462 MTR T>G	1	237048462	237048462	T	G	MTR	c.2718T>G	NM_000254.3	NP_000245.2:p.(Phe906Leu)	NC_000001.10:g.237048462T>G	VUS	1 lab	e73f913243
12:102151036 GNPTAB C>T	12	102151036	102151036	C	T	GNPTAB	c.3388G>A	NM_024312.5	NP_077288.2:p.(Val1130Ile)	NC_000012.11:g.102151036C>T	VUS	1 lab	e740f74fe4
X:70888048 MISSING C>T	X	70888048	70888048	C	T	MISSING				NC_000023.10:g.70888048C>T	VUS	1 lab	e74312492c
16:2164175 PKD1 A>G	16	2164175	2164175	A	G	PKD1	c.2849T>C	NM_001009944.3	NP_001009944.3:p.(Leu950Pro)	NC_000016.9:g.2164175A>G	VUS	1 lab	e7437bf12b
7:47933652 PKD1L1 T>A	7	47933652	47933652	T	A	PKD1L1	c.2276A>T	NM_138295.5	NP_612152.1:p.(Gln759Leu)	NC_000007.13:g.47933652T>A	VUS	1 lab	e743bc9dfb
X:153296128 MECP2 G>A	X	153296128	153296128	G	A	MECP2	c.1187C>T	NM_001110792.2	NP_001104262.1:p.(Pro396Leu)	NC_000023.10:g.153296128G>A	VUS	1 lab	e743be75b2
16:30723337 SRCAP T>G	16	30723337	30723337	T	G	SRCAP	c.1674T>G	NM_006662.3	NP_006653.2:p.(Asp558Glu)	NC_000016.9:g.30723337T>G	VUS	1 lab	e74548270d
3:62358196 FEZF2 C>CCCGCCG	3	62358196	62358213	C	CCCGCCG	FEZF2	c.342_347dup	NM_018008.4	NP_060478.3:p.(Gly116_Gly117dup)	NC_000003.11:g.62358208_62358213dup	VUS	1 lab	e746a7c524
6:46976746 ADGRF1 C>T	6	46976746	46976746	C	T	ADGRF1	c.2425G>A	NM_153840.4	NP_722582.2:p.(Gly809Arg)	NC_000006.11:g.46976746C>T	VUS	1 lab	e7471e9629
5:36976243 NIPBL C>T	5	36976243	36976243	C	T	NIPBL	c.1234C>T	NM_133433.4	NP_597677.2:p.(Arg412Cys)	NC_000005.9:g.36976243C>T	(Likely) benign	1 lab	e748f818b3
10:112360873 SMC3 A>G	10	112360873	112360873	A	G	SMC3	c.2629A>G	NM_005445.4	NP_005436.1:p.(Met877Val)	NC_000010.10:g.112360873A>G	VUS	1 lab	e749d70f37
X:30327166 NR0B1 C>A	X	30327166	30327166	C	A	NR0B1	c.315G>T	NM_000475.5	NP_000466.2:p.(Trp105Cys)	NC_000023.10:g.30327166C>A	(Likely) pathogenic	1 lab	2fe68e267f
1:27190422 SFN G>A	1	27190422	27190422	G	A	SFN	c.719G>A	NM_006142.5	NP_006133.1:p.(Gly240Asp)	NC_000001.10:g.27190422G>A	VUS	1 lab	e74bd1fa0b
11:103022858 DYNC2H1 C>T	11	103022858	103022858	C	T	DYNC2H1	c.2947-7C>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103022858C>T	(Likely) benign	1 lab	e74c05414c
15:75042108 CYP1A2 CG>C	15	75042108	75042110	CG	C	CYP1A2	c.31del	NM_000761.5	NP_000752.2:p.(Ala11ProfsTer21)	NC_000015.9:g.75042110del	VUS	1 lab	e74c704915
9:123777461 C5 A>T	9	123777461	123777461	A	T	C5	c.2059+16T>A	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123777461A>T	(Likely) benign	1 lab	2fea46147c
14:95906315 SYNE3 T>A	14	95906315	95906315	T	A	SYNE3	c.2009A>T	NM_152592.6	NP_689805.3:p.(Lys670Met)	NC_000014.8:g.95906315T>A	(Likely) benign	1 lab	e74ea1af34
19:54684748 MBOAT7 G>A	19	54684748	54684748	G	A	MBOAT7	c.596C>T	NM_024298.5	NP_077274.3:p.(Pro199Leu)	NC_000019.9:g.54684748G>A	(Likely) benign	1 lab	e74ec5f006
6:117245962 RFX6 A>G	6	117245962	117245962	A	G	RFX6	c.1678+8A>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117245962A>G	(Likely) benign	1 lab	e74f2596cb
5:127873292 FBN2 C>T	5	127873292	127873292	C	T	FBN2	c.5G>A	NM_001999.4	NP_001990.2:p.(Gly2Glu)	NC_000005.9:g.127873292C>T	VUS	1 lab	e74fa83d71
20:4158147 SMOX G>A	20	4158147	4158147	G	A	SMOX	c.358G>A	NM_175839.3	NP_787033.1:p.(Val120Met)	NC_000020.10:g.4158147G>A	VUS	1 lab	e81182269d
3:58107065 FLNB G>T	3	58107065	58107065	G	T	FLNB	c.2961G>T	NM_001457.4	NP_001448.2:p.(Lys987Asn)	NC_000003.11:g.58107065G>T	VUS	1 lab	e75186e567
19:41932547 B3GNT8 G>A	19	41932547	41932547	G	A	B3GNT8	c.137C>T	NM_001385648.2	NP_001372577.1:p.(Thr46Met)	NC_000019.9:g.41932547G>A	VUS	1 lab	e7526abffe
14:24710240 TINF2 C>T	14	24710240	24710240	C	T	TINF2	c.590G>A	NM_001099274.3	NP_001092744.1:p.(Gly197Glu)	NC_000014.8:g.24710240C>T	(Likely) benign	1 lab	e752c35c55
15:77406793 PEAK1 T>C	15	77406793	77406793	T	C	PEAK1	c.4946A>G	NM_001385026.1	NP_001371955.1:p.(Asn1649Ser)	NC_000015.9:g.77406793T>C	VUS	1 lab	e752de0d40
9:109686855 ZNF462 C>T	9	109686855	109686855	C	T	ZNF462	c.662C>T	NM_021224.6	NP_067047.4:p.(Ala221Val)	NC_000009.11:g.109686855C>T	(Likely) benign	1 lab	e753c5ee67
20:34797219 EPB41L1 T>TG	20	34797219	34797220	T	TG	EPB41L1	c.1669-191_1669-190insG	NM_012156.2	NP_036288.2:p.?	NC_000020.10:g.34797219_34797220insG	(Likely) benign	1 lab	e754684b39
17:48264082 COL1A1 T>A	17	48264082	48264082	T	A	COL1A1	c.3733A>T	NM_000088.4	NP_000079.2:p.(Ile1245Phe)	NC_000017.10:g.48264082T>A	(Likely) benign	1 lab	e75719c870
15:49036542 CEP152 TA>T	15	49036542	49036548	TA	T	CEP152	c.3732-3del	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49036548del	(Likely) benign	1 lab	e75880b240
15:42138422 PLA2G4B T>G	15	42138422	42138422	T	G	PLA2G4B	c.1622T>G	NM_001114633.2	NP_001108105.1:p.(Leu541Arg)	NC_000015.9:g.42138422T>G	VUS	1 lab	e759a1ca5d
X:152835222 ATP2B3 T>C	X	152835222	152835222	T	C	ATP2B3	c.3342+4661T>C	NM_001001344.3	NP_001001344.1:p.?	NC_000023.10:g.152835222T>C	(Likely) benign	1 lab	e75a60127c
4:6304103 WFS1 G>A	4	6304103	6304103	G	A	WFS1	c.2581G>A	NM_006005.3	NP_005996.2:p.(Val861Met)	NC_000004.11:g.6304103G>A	VUS	1 lab	e75a995885
5:149441171 CSF1R C>T	5	149441171	149441171	C	T	CSF1R	c.1754-13G>A	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149441171C>T	(Likely) benign	1 lab	e75b04cea3
11:694771 DEAF1 C>T	11	694771	694771	C	T	DEAF1	c.277G>A	NM_021008.4	NP_066288.2:p.(Ala93Thr)	NC_000011.9:g.694771C>T	VUS	1 lab	e75ba7fa23
13:32950800 BRCA2 T>C	13	32950800	32950800	T	C	BRCA2	c.8633-7T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950800T>C	(Likely) benign	1 lab	2fedf8e39a
2:109524434 EDAR C>T	2	109524434	109524434	C	T	EDAR	c.845G>A	NM_022336.4	NP_071731.1:p.(Arg282Gln)	NC_000002.11:g.109524434C>T	VUS	1 lab	e75c6c1625
16:27460318 IL21R G>A	16	27460318	27460318	G	A	IL21R	c.1397G>A	NM_181079.5	NP_851565.4:p.(Ser466Asn)	NC_000016.9:g.27460318G>A	(Likely) benign	1 lab	2fee181374
2:88870632 EIF2AK3 A>T	2	88870632	88870632	A	T	EIF2AK3	c.2818-73T>A	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88870632A>T	(Likely) benign	1 lab	2feea71633
4:2934247 SLC75A1 A>G	4	2934247	2934247	A	G	SLC75A1	c.532-8T>C	NM_001146069.2	NP_001139541.1:p.?	NC_000004.11:g.2934247A>G	VUS	1 lab	e75c8c2410
16:89858884 FANCA G>A	16	89858884	89858884	G	A	FANCA	c.1078C>T	NM_000135.4	NP_000126.2:p.(Arg360Cys)	NC_000016.9:g.89858884G>A	(Likely) benign	1 lab	e75d74a835
8:144996166 PLEC G>A	8	144996166	144996166	G	A	PLEC	c.7823C>T	NM_201384.3	NP_958786.1:p.(Ala2608Val)	NC_000008.10:g.144996166G>A	VUS	1 lab	e75d89ec31
15:48762916 FBN1 A>T	15	48762916	48762916	A	T	FBN1	c.4374T>A	NM_000138.5	NP_000129.3:p.(Phe1458Leu)	NC_000015.9:g.48762916A>T	VUS	1 lab	e760afd74e
14:93649990 MOAP1 C>T	14	93649990	93649990	C	T	MOAP1	c.598G>A	NM_022151.5	NP_071434.2:p.(Val200Ile)	NC_000014.8:g.93649990C>T	(Likely) benign	1 lab	e7629f8beb
21:47786639 PCNT C>T	21	47786639	47786639	C	T	PCNT	c.2750C>T	NM_006031.6	NP_006022.3:p.(Ala917Val)	NC_000021.8:g.47786639C>T	(Likely) benign	1 lab	e762edae7e
17:59938900 BRIP1 T>C	17	59938900	59938900	T	C	BRIP1	c.1A>G	NM_032043.3	NP_114432.2:p.(Met1?)	NC_000017.10:g.59938900T>C	VUS	1 lab	e762ee6b87
4:1348914 UVSSA C>T	4	1348914	1348914	C	T	UVSSA	c.1057C>T	NM_020894.4	NP_065945.2:p.(Arg353Cys)	NC_000004.11:g.1348914C>T	VUS	1 lab	e7648691c2
2:179611213 TTN G>A	2	179611213	179611213	G	A	TTN	c.11312-4565C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611213G>A	(Likely) benign	1 lab	e764ba0c1f
7:1516524 INTS1 G>A	7	1516524	1516524	G	A	INTS1	c.4969C>T	NM_001080453.3	NP_001073922.2:p.(Arg1657Cys)	NC_000007.13:g.1516524G>A	VUS	1 lab	e7682a168d
11:83252715 DLG2 G>T	11	83252715	83252715	G	T	DLG2	c.2117+10C>A	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.83252715G>T	VUS	1 lab	e768e2394f
5:180377364 BTNL8 G>A	5	180377364	180377364	G	A	BTNL8	c.1323G>A	NM_001040462.3	NP_001035552.1:p.(Arg441=)	NC_000005.9:g.180377364G>A	VUS	1 lab	e76a9c5d91
4:167012437 TLL1 G>A	4	167012437	167012437	G	A	TLL1	c.2600G>A	NM_012464.5	NP_036596.3:p.(Arg867Gln)	NC_000004.11:g.167012437G>A	VUS	1 lab	e76aad4fca
14:77786797 POMT2 C>T	14	77786797	77786797	C	T	POMT2	c.228G>A	NM_013382.7	NP_037514.2:p.(Leu76=)	NC_000014.8:g.77786797C>T	VUS	1 lab	e76b331075
6:32557489 HLA-DRB1 A>T	6	32557489	32557489	A	T	HLA-DRB1	c.31T>A	NM_002124.4	NP_002115.2:p.(Cys11Ser)	NC_000006.11:g.32557489A>T	(Likely) benign	1 lab	e77018c87a
19:6694528 C3 A>G	19	6694528	6694528	A	G	C3	c.3068T>C	NM_000064.4	NP_000055.2:p.(Ile1023Thr)	NC_000019.9:g.6694528A>G	VUS	1 lab	e7704a8039
6:80635928 ELOVL4 G>A	6	80635928	80635928	G	A	ELOVL4	c.271C>T	NM_022726.4	NP_073563.1:p.(Leu91Phe)	NC_000006.11:g.80635928G>A	(Likely) benign	1 lab	e7733b4f92
9:135946686 CEL C>T	9	135946686	135946686	C	T	CEL	c.1797C>T	NM_001807.6	NP_001798.3:p.(Ser599=)	NC_000009.11:g.135946686C>T	(Likely) benign	1 lab	e774e9b207
X:49845264 CLCN5 A>G	X	49845264	49845264	A	G	CLCN5	c.617A>G	NM_001127898.4	NP_001121370.1:p.(Tyr206Cys)	NC_000023.10:g.49845264A>G	VUS	1 lab	e775d93cf5
12:48240126 VDR A>G	12	48240126	48240126	A	G	VDR	c.1016T>C	NM_000376.3	NP_000367.1:p.(Val339Ala)	NC_000012.11:g.48240126A>G	VUS	1 lab	e775f4752b
7:47925619 PKD1L1 G>A	7	47925619	47925619	G	A	PKD1L1	c.2870C>T	NM_138295.5	NP_612152.1:p.(Ser957Leu)	NC_000007.13:g.47925619G>A	(Likely) benign	1 lab	e77a82fddc
20:2841495 VPS16 G>A	20	2841495	2841495	G	A	VPS16	c.616G>A	NM_022575.4	NP_072097.2:p.(Ala206Thr)	NC_000020.10:g.2841495G>A	(Likely) benign	1 lab	e77a8b97b7
19:13321453 CACNA1A C>T	19	13321453	13321453	C	T	CACNA1A	c.6317G>A	NM_001127222.2	NP_001120694.1:p.(Arg2106Gln)	NC_000019.9:g.13321453C>T	VUS	1 lab	e77ab35103
18:67812952 RTTN G>A	18	67812952	67812952	G	A	RTTN	c.2377C>T	NM_173630.4	NP_775901.3:p.(Arg793Cys)	NC_000018.9:g.67812952G>A	VUS	1 lab	e77bfffa34
11:61068412 DDB1 G>A	11	61068412	61068412	G	A	DDB1	c.3216-8C>T	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61068412G>A	(Likely) benign	1 lab	e77cd76da1
22:32215155 DEPDC5 G>A	22	32215155	32215155	G	A	DEPDC5	c.1814G>A	NM_001242896.3	NP_001229825.1:p.(Arg605Gln)	NC_000022.10:g.32215155G>A	(Likely) benign	1 lab	e77f734c80
2:167149843 SCN9A T>A	2	167149843	167149843	T	A	SCN9A	c.1005A>T	NM_001365536.1	NP_001352465.1:p.(Arg335Ser)	NC_000002.11:g.167149843T>A	(Likely) benign	1 lab	e7802a31f9
6:56483278 DST G>A	6	56483278	56483278	G	A	DST	c.4930-3996C>T	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56483278G>A	(Likely) pathogenic	1 lab	e7819fe267
10:94362582 KIF11 CGT>C	10	94362582	94362613	CGT	C	KIF11	c.78-3410_78-3409del	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94362612_94362613del	(Likely) benign	1 lab	e781c4cadc
4:6302972 WFS1 C>G	4	6302972	6302972	C	G	WFS1	c.1450C>G	NM_006005.3	NP_005996.2:p.(Leu484Val)	NC_000004.11:g.6302972C>G	VUS	1 lab	e782630908
17:8138120 CTC1 G>A	17	8138120	8138120	G	A	CTC1	c.1564C>T	NM_025099.6	NP_079375.3:p.(Arg522Trp)	NC_000017.10:g.8138120G>A	VUS	1 lab	e782aa5ee4
11:9166542 DENND5A T>G	11	9166542	9166542	T	G	DENND5A	c.3122A>C	NM_015213.4	NP_056028.2:p.(Lys1041Thr)	NC_000011.9:g.9166542T>G	VUS	1 lab	e7834edfac
14:23306036 MMP14 G>A	14	23306036	23306036	G	A	MMP14	c.10G>A	NM_004995.4	NP_004986.1:p.(Ala4Thr)	NC_000014.8:g.23306036G>A	VUS	1 lab	e7896786a8
16:29401409 NPIPB11 C>T	16	29401409	29401409	C	T	NPIPB11	c.398G>A	NM_001310137.5	NP_001297066.2:p.(Arg133Gln)	NC_000016.9:g.29401409C>T	(Likely) benign	1 lab	e789ea1974
1:27023082 ARID1A T>G	1	27023082	27023082	T	G	ARID1A	c.188T>G	NM_006015.6	NP_006006.3:p.(Val63Gly)	NC_000001.10:g.27023082T>G	(Likely) benign	1 lab	e78d949195
X:7252023 STS A>G	X	7252023	7252023	A	G	STS	c.1242-4A>G	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7252023A>G	(Likely) benign	1 lab	e78e85a7ab
1:149760087 FCGR1A C>G	1	149760087	149760087	C	G	FCGR1A	c.473C>G	NM_000566.4	NP_000557.1:p.(Thr158Ser)	NC_000001.10:g.149760087C>G	(Likely) benign	1 lab	e78ede743b
2:113820136 IL36RN C>T	2	113820136	113820136	C	T	IL36RN	c.350C>T	NM_012275.3	NP_036407.1:p.(Pro117Leu)	NC_000002.11:g.113820136C>T	VUS	1 lab	2d29778f06
3:172166157 GHSR A>T	3	172166157	172166157	A	T	GHSR	c.47T>A	NM_198407.2	NP_940799.1:p.(Leu16Gln)	NC_000003.11:g.172166157A>T	VUS	1 lab	e78fe0c523
17:62021197 SCN4A T>C	17	62021197	62021197	T	C	SCN4A	c.3926A>G	NM_000334.4	NP_000325.4:p.(Asp1309Gly)	NC_000017.10:g.62021197T>C	VUS	1 lab	e790327d1f
19:50119312 PRR12 C>T	19	50119312	50119312	C	T	PRR12	c.5333C>T	NM_020719.3	NP_065770.1:p.(Thr1778Ile)	NC_000019.9:g.50119312C>T	(Likely) benign	1 lab	e7905a63b9
15:41797915 LTK TG>T	15	41797915	41797916	TG	T	LTK	c.1692del	NM_002344.6	NP_002335.2:p.(Ile565SerfsTer28)	NC_000015.9:g.41797916del	VUS	1 lab	e790819fad
11:2181258 INS C>T	11	2181258	2181258	C	T	INS	c.188-31G>A	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2181258C>T	(Likely) pathogenic	1 lab	e79095ddfa
1:43888542 SZT2 G>A	1	43888542	43888542	G	A	SZT2	c.2025G>A	NM_015284.4	NP_056099.3:p.(Pro675=)	NC_000001.10:g.43888542G>A	(Likely) benign	1 lab	2ff2555254
17:7329933 SPEM2 A>T	17	7329933	7329933	A	T	SPEM2	c.623A>T	NM_175734.5	NP_783861.3:p.(Gln208Leu)	NC_000017.10:g.7329933A>T	VUS	1 lab	e79210aaa7
21:27264168 APP C>G	21	27264168	27264168	C	G	APP	c.2077G>C	NM_000484.4	NP_000475.1:p.(Glu693Gln)	NC_000021.8:g.27264168C>G	(Likely) pathogenic	1 lab	e792223b05
X:140785716 SPANXD A>G	X	140785716	140785716	A	G	SPANXD	c.200T>C	NM_032417.4	NP_115793.1:p.(Leu67Pro)	NC_000023.10:g.140785716A>G	VUS	1 lab	e7927513fb
11:46001522 PHF21A C>A	11	46001522	46001522	C	A	PHF21A	c.154-5G>T	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.46001522C>A	(Likely) benign	1 lab	e793fa0f6b
19:5866754 FUT5 C>T	19	5866754	5866754	C	T	FUT5	c.983G>A	NM_002034.2	NP_002025.2:p.(Arg328His)	NC_000019.9:g.5866754C>T	(Likely) benign	1 lab	e795af9e2f
5:77477426 AP3B1 T>G	5	77477426	77477426	T	G	AP3B1	c.847A>C	NM_003664.5	NP_003655.3:p.(Lys283Gln)	NC_000005.9:g.77477426T>G	(Likely) benign	1 lab	e798460b90
19:15350330 BRD4 G>T	19	15350330	15350330	G	T	BRD4	c.3449C>A	NM_001379291.1	NP_001366220.1:p.(Pro1150Gln)	NC_000019.9:g.15350330G>T	VUS	1 lab	e798c267fb
1:11319415 MTOR T>C	1	11319415	11319415	T	C	MTOR	c.52A>G	NM_004958.4	NP_004949.1:p.(Asn18Asp)	NC_000001.10:g.11319415T>C	(Likely) benign	1 lab	e7994fbf86
5:39311285 C9 G>C	5	39311285	39311285	G	C	C9	c.1065C>G	NM_001737.3	NP_001728.1:p.(Leu355=)	NC_000005.9:g.39311285G>C	(Likely) benign	1 lab	2ff43ec782
8:145772893 ARHGAP39 T>C	8	145772893	145772893	T	C	ARHGAP39	c.1577A>G	NM_025251.3	NP_079527.1:p.(Gln526Arg)	NC_000008.10:g.145772893T>C	(Likely) benign	1 lab	e79b0a0241
2:132290934 CCDC74A C>T	2	132290934	132290934	C	T	CCDC74A	c.902C>T	NM_001258306.3	NP_001245235.1:p.(Ala301Val)	NC_000002.11:g.132290934C>T	(Likely) benign	1 lab	e79cf1ac91
8:22021934 SFTPC G>A	8	22021934	22021934	G	A	SFTPC	c.*380G>A	NM_001172357.2	NP_001165828.1:p.?	NC_000008.10:g.22021934G>A	(Likely) benign	1 lab	2d29ddff9d
5:98192095 CHD1 G>A	5	98192095	98192095	G	A	CHD1	c.5122C>T	NM_001270.4	NP_001261.2:p.(Arg1708Trp)	NC_000005.9:g.98192095G>A	(Likely) benign	1 lab	e79f8646e2
9:140063765 LRRC26 G>GTT	9	140063765	140063766	G	GTT	LRRC26	c.630_631insAA	NM_001013653.3	NP_001013675.1:p.(Pro211AsnfsTer28)	NC_000009.11:g.140063765_140063766insTT	VUS	1 lab	e7a10c19eb
1:35223097 GJB5 C>T	1	35223097	35223097	C	T	GJB5	c.166C>T	NM_005268.4	NP_005259.1:p.(Arg56Cys)	NC_000001.10:g.35223097C>T	(Likely) benign	1 lab	e7a1668c4e
16:2147791 PKD1 G>A	16	2147791	2147791	G	A	PKD1	c.10168-10C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147791G>A	VUS	1 lab	e7a2348f3d
19:45323983 BCAM G>A	19	45323983	45323983	G	A	BCAM	c.1785G>A	NM_005581.5	NP_005572.2:p.(Leu595=)	NC_000019.9:g.45323983G>A	VUS	1 lab	e7a4f73bb7
18:21330917 LAMA3 A>T	18	21330917	21330917	A	T	LAMA3	c.720A>T	NM_198129.4	NP_937762.2:p.(Ala240=)	NC_000018.9:g.21330917A>T	VUS	1 lab	e7a5eb95b3
1:226564908 PARP1 G>T	1	226564908	226564908	G	T	PARP1	c.1842C>A	NM_001618.4	NP_001609.2:p.(Phe614Leu)	NC_000001.10:g.226564908G>T	VUS	1 lab	e7a5f0910f
8:90971066 NBN A>AGTT	8	90971066	90971074	A	AGTT	NBN	c.1008_1010dup	NM_002485.5	NP_002476.2:p.(Thr337dup)	NC_000008.10:g.90971072_90971074dup	VUS	1 lab	e7a767cc87
16:2157915 PKD1 G>A	16	2157915	2157915	G	A	PKD1	c.7034C>T	NM_001009944.3	NP_001009944.3:p.(Ala2345Val)	NC_000016.9:g.2157915G>A	VUS	1 lab	e7aa41ce4d
7:44189567 GCK C>T	7	44189567	44189567	C	T	GCK	c.579+1G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44189567C>T	(Likely) pathogenic	1 lab	e7aacb6ca5
10:99220723 MMS19 C>T	10	99220723	99220723	C	T	MMS19	c.2353G>A	NM_022362.5	NP_071757.4:p.(Val785Met)	NC_000010.10:g.99220723C>T	(Likely) benign	1 lab	e7b51a57cc
19:11325230 DOCK6 TGCACGA>T	19	11325230	11325236	TGCACGA	T	DOCK6	c.4196_4201del	NM_020812.4	NP_065863.2:p.(Ile1399_Gln1401delinsLys)	NC_000019.9:g.11325231_11325236del	VUS	1 lab	e7ab64ea02
20:3670921 SIGLEC1 G>T	20	3670921	3670921	G	T	SIGLEC1	c.4592-10C>A	NM_023068.4	NP_075556.1:p.?	NC_000020.10:g.3670921G>T	(Likely) benign	1 lab	e7abb19067
3:433358 CHL1 T>C	3	433358	433358	T	C	CHL1	c.2792T>C	NM_006614.4	NP_006605.2:p.(Val931Ala)	NC_000003.11:g.433358T>C	VUS	1 lab	e7ac782709
X:140994200 MAGEC1 TTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGCTCAAAGTACTTTTGAGGGTTTTCCCCAGTCTCC>T	X	140994200	140994318	TTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTCCAGAGTTCTCCTGAGAGTGCTCAAAGTACTTTTGAGGGTTTTCCCCAGTCTCC	T	MAGEC1	c.1024_1128del	NM_005462.5	NP_005453.2:p.(Met342_Pro376del)	NC_000023.10:g.140994214_140994318del	VUS	1 lab	e7af19299d
X:3239884 MXRA5 G>C	X	3239884	3239884	G	C	MXRA5	c.3842C>G	NM_015419.4	NP_056234.2:p.(Thr1281Ser)	NC_000023.10:g.3239884G>C	VUS	1 lab	e7af4db757
12:22028630 ABCC9 C>A	12	22028630	22028630	C	A	ABCC9	c.2050G>T	NM_020297.4	NP_064693.2:p.(Gly684Cys)	NC_000012.11:g.22028630C>A	VUS	1 lab	e7affe2122
11:108385546 EXPH5 T>C	11	108385546	108385546	T	C	EXPH5	c.688A>G	NM_015065.3	NP_055880.2:p.(Thr230Ala)	NC_000011.9:g.108385546T>C	(Likely) benign	1 lab	e7b01d02bd
19:44238649 SMG9 T>C	19	44238649	44238649	T	C	SMG9	c.996-2A>G	NM_019108.4	NP_061981.2:p.?	NC_000019.9:g.44238649T>C	(Likely) pathogenic	1 lab	e7b02cf25b
7:98507898 TRRAP G>A	7	98507898	98507898	G	A	TRRAP	c.1570G>A	NM_001375524.1	NP_001362453.1:p.(Val524Met)	NC_000007.13:g.98507898G>A	(Likely) benign	1 lab	e7b1988e32
4:108824504 SGMS2 C>T	4	108824504	108824504	C	T	SGMS2	c.689C>T	NM_001375905.1	NP_001362834.1:p.(Thr230Met)	NC_000004.11:g.108824504C>T	VUS	1 lab	e7b1af082f
X:37587556 XK C>G	X	37587556	37587556	C	G	XK	c.1176C>G	NM_021083.4	NP_066569.1:p.(Leu392=)	NC_000023.10:g.37587556C>G	(Likely) benign	1 lab	2ff5afe4a5
2:74213612 TET3 G>A	2	74213612	74213612	G	A	TET3	c.82G>A	NM_001287491.2	NP_001274420.1:p.(Gly28Arg)	NC_000002.11:g.74213612G>A	(Likely) benign	1 lab	e7b41b4e55
5:1282723 TERT C>T	5	1282723	1282723	C	T	TERT	c.1590G>A	NM_198253.3	NP_937983.2:p.(Pro530=)	NC_000005.9:g.1282723C>T	VUS	1 lab	e7b4aedad9
X:104464342 IL1RAPL2 T>A	X	104464342	104464342	T	A	IL1RAPL2	c.357-14160T>A	NM_017416.2	NP_059112.1:p.?	NC_000023.10:g.104464342T>A	(Likely) benign	1 lab	e7b6f3efab
7:138874235 IFT56 T>C	7	138874235	138874235	T	C	IFT56	c.*57T>C	NM_024926.4	NP_079202.2:p.?	NC_000007.13:g.138874235T>C	VUS	1 lab	e7b7f649d5
3:128971197 COPG1 T>C	3	128971197	128971197	T	C	COPG1	c.164T>C	NM_016128.4	NP_057212.1:p.(Ile55Thr)	NC_000003.11:g.128971197T>C	(Likely) benign	1 lab	e7b908133b
19:12774561 MAN2B1 C>T	19	12774561	12774561	C	T	MAN2B1	c.719G>A	NM_000528.4	NP_000519.2:p.(Arg240Gln)	NC_000019.9:g.12774561C>T	(Likely) benign	1 lab	e7b9591b9c
16:58588662 CNOT1 G>A	16	58588662	58588662	G	A	CNOT1	c.2891+493C>T	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58588662G>A	VUS	1 lab	e7ba3c39c0
22:42611073 TCF20 T>C	22	42611073	42611073	T	C	TCF20	c.239A>G	NM_001378418.1	NP_001365347.1:p.(Gln80Arg)	NC_000022.10:g.42611073T>C	VUS	1 lab	e7ba6393df
16:70698143 MTSS2 C>T	16	70698143	70698143	C	T	MTSS2	c.1681G>A	NM_138383.3	NP_612392.1:p.(Val561Met)	NC_000016.9:g.70698143C>T	VUS	1 lab	2d2aeae01a
3:9787381 BRPF1 G>A	3	9787381	9787381	G	A	BRPF1	c.3193G>A	NM_001003694.2	NP_001003694.1:p.(Val1065Met)	NC_000003.11:g.9787381G>A	VUS	1 lab	e7bc9277c5
16:21139071 DNAH3 G>A	16	21139071	21139071	G	A	DNAH3	c.1058C>T	NM_001347886.2	NP_001334815.1:p.(Pro353Leu)	NC_000016.9:g.21139071G>A	(Likely) benign	1 lab	e7bc948722
6:51523951 PKHD1 A>G	6	51523951	51523951	A	G	PKHD1	c.10973T>C	NM_138694.4	NP_619639.3:p.(Ile3658Thr)	NC_000006.11:g.51523951A>G	(Likely) benign	1 lab	e7bcba63de
1:26135616 SELENON G>A	1	26135616	26135616	G	A	SELENON	c.745G>A	NM_206926.2	NP_996809.1:p.(Asp249Asn)	NC_000001.10:g.26135616G>A	VUS	1 lab	e7bcbf49dc
1:235658069 B3GALNT2 C>T	1	235658069	235658069	C	T	B3GALNT2	c.182G>A	NM_152490.5	NP_689703.1:p.(Arg61His)	NC_000001.10:g.235658069C>T	VUS	1 lab	e7bfe0ec3e
3:167183321 SERPINI2 TTTTC>T	3	167183321	167183327	TTTTC	T	SERPINI2	c.615_618del	NM_006217.6	NP_006208.1:p.(Lys206MetfsTer9)	NC_000003.11:g.167183324_167183327del	VUS	1 lab	e7bff5c94e
7:781068 DNAAF5 T>TGG	7	781068	781070	T	TGG	DNAAF5	c.991_992insGG	NM_017802.4	NP_060272.3:p.(Ala331GlyfsTer48)	NC_000007.13:g.781069_781070insGG	(Likely) benign	1 lab	e7c0208f06
17:26116653 NOS2 G>A	17	26116653	26116653	G	A	NOS2	c.172C>T	NM_000625.4	NP_000616.3:p.(Gln58Ter)	NC_000017.10:g.26116653G>A	VUS	1 lab	33845d248e
11:73689371 UCP2 A>G	11	73689371	73689371	A	G	UCP2	c.53T>C	NM_003355.3	NP_003346.2:p.(Leu18Pro)	NC_000011.9:g.73689371A>G	VUS	1 lab	e7ccc3bcec
20:10401235 MKKS C>A	20	10401235	10401235	C	A	MKKS	c.-477G>T	NM_170784.3	NP_740754.1:p.?	NC_000020.10:g.10401235C>A	(Likely) benign	1 lab	e7ce304c9b
19:45281364 CBLC C>A	19	45281364	45281364	C	A	CBLC	c.176C>A	NM_012116.4	NP_036248.3:p.(Ala59Asp)	NC_000019.9:g.45281364C>A	(Likely) benign	1 lab	e7cef9b7cd
1:100377973 AGL T>C	1	100377973	100377973	T	C	AGL	c.3849T>C	NM_000642.3	NP_000633.2:p.(Ala1283=)	NC_000001.10:g.100377973T>C	(Likely) benign	1 lab	e7d08f85cc
19:11098581 SMARCA4 C>T	19	11098581	11098581	C	T	SMARCA4	c.1099C>T	NM_003072.5	NP_003063.2:p.(Leu367=)	NC_000019.9:g.11098581C>T	(Likely) benign	1 lab	e7d23d0cf7
17:10314110 MYH8 A>T	17	10314110	10314110	A	T	MYH8	c.1571T>A	NM_002472.3	NP_002463.2:p.(Ile524Asn)	NC_000017.10:g.10314110A>T	VUS	1 lab	e7d3205caf
9:140615779 EHMT1 T>A	9	140615779	140615779	T	A	EHMT1	c.642+4145T>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140615779T>A	(Likely) benign	1 lab	e7d3d46055
18:47500928 MYO5B T>A	18	47500928	47500928	T	A	MYO5B	c.1114A>T	NM_001080467.3	NP_001073936.1:p.(Met372Leu)	NC_000018.9:g.47500928T>A	VUS	1 lab	e7d4d9fe2f
6:70942441 COL9A1 C>T	6	70942441	70942441	C	T	COL9A1	c.2348G>A	NM_001851.6	NP_001842.3:p.(Arg783His)	NC_000006.11:g.70942441C>T	VUS	1 lab	e7d593ce41
7:44286796 CAMK2B G>A	7	44286796	44286796	G	A	CAMK2B	c.342-5C>T	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44286796G>A	(Likely) benign	1 lab	2d2c0d0870
16:30735001 SRCAP A>G	16	30735001	30735001	A	G	SRCAP	c.4256A>G	NM_006662.3	NP_006653.2:p.(Asn1419Ser)	NC_000016.9:g.30735001A>G	VUS	1 lab	e7d7658be1
2:145157032 ZEB2 G>T	2	145157032	145157032	G	T	ZEB2	c.1722C>A	NM_014795.4	NP_055610.1:p.(Asn574Lys)	NC_000002.11:g.145157032G>T	(Likely) benign	1 lab	e7d89b4479
7:128493034 FLNC G>A	7	128493034	128493034	G	A	FLNC	c.6157G>A	NM_001458.5	NP_001449.3:p.(Glu2053Lys)	NC_000007.13:g.128493034G>A	VUS	1 lab	e7d8b8e9e0
3:133670066 SLCO2A1 G>A	3	133670066	133670066	G	A	SLCO2A1	c.847C>T	NM_005630.3	NP_005621.2:p.(Pro283Ser)	NC_000003.11:g.133670066G>A	(Likely) benign	1 lab	e7d91833d1
12:113812389 PLBD2 A>G	12	113812389	113812389	A	G	PLBD2	c.644+10A>G	NM_173542.4	NP_775813.2:p.?	NC_000012.11:g.113812389A>G	(Likely) benign	1 lab	e7d9a5d244
2:209108190 IDH1 T>C	2	209108190	209108190	T	C	IDH1	c.659A>G	NM_005896.4	NP_005887.2:p.(Asp220Gly)	NC_000002.11:g.209108190T>C	VUS	1 lab	e7dab643e0
12:53298741 KRT8 A>C	12	53298741	53298741	A	C	KRT8	c.25T>G	NM_002273.4	NP_002264.1:p.(Ser9Ala)	NC_000012.11:g.53298741A>C	(Likely) benign	1 lab	e7db1c966b
X:57935083 ZXDA G>T	X	57935083	57935083	G	T	ZXDA	c.1772C>A	NM_007156.5	NP_009087.1:p.(Thr591Asn)	NC_000023.10:g.57935083G>T	VUS	1 lab	e7db6e2c4b
3:172165384 GHSR G>A	3	172165384	172165384	G	A	GHSR	c.796+24C>T	NM_198407.2	NP_940799.1:p.?	NC_000003.11:g.172165384G>A	(Likely) benign	1 lab	e7ddaccd6d
12:13717147 GRIN2B G>T	12	13717147	13717147	G	T	GRIN2B	c.3025C>A	NM_000834.5	NP_000825.2:p.(Pro1009Thr)	NC_000012.11:g.13717147G>T	VUS	1 lab	e7de74ee46
10:50186393 WDFY4 C>T	10	50186393	50186393	C	T	WDFY4	c.9331C>T	NM_001394531.1	NP_001381460.1:p.(Arg3111Trp)	NC_000010.10:g.50186393C>T	(Likely) benign	1 lab	e7e0dc72bc
2:172584380 DYNC1I2 T>G	2	172584380	172584380	T	G	DYNC1I2	c.1046T>G	NM_001378.3	NP_001369.1:p.(Val349Gly)	NC_000002.11:g.172584380T>G	VUS	1 lab	e7e0f71b2b
11:2192914 TH C>T	11	2192914	2192914	C	T	TH	c.90+13G>A	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2192914C>T	(Likely) pathogenic	1 lab	e7e17d3a48
17:27577318 CRYBA1 C>T	17	27577318	27577318	C	T	CRYBA1	c.215C>T	NM_005208.5	NP_005199.2:p.(Ala72Val)	NC_000017.10:g.27577318C>T	(Likely) benign	1 lab	e7e3b5c9da
19:41847884 TGFB1 C>T	19	41847884	41847884	C	T	TGFB1	c.764G>A	NM_000660.7	NP_000651.3:p.(Arg255Gln)	NC_000019.9:g.41847884C>T	(Likely) benign	1 lab	e7e5933707
3:196053825 TM4SF19 C>G	3	196053825	196053825	C	G	TM4SF19	c.279+1G>C	NM_138461.4	NP_612470.2:p.?	NC_000003.11:g.196053825C>G	VUS	1 lab	e7e6871b73
2:220500461 SLC4A3 C>T	2	220500461	220500461	C	T	SLC4A3	c.2039C>T	NM_005070.4	NP_005061.3:p.(Ser680Leu)	NC_000002.11:g.220500461C>T	(Likely) benign	1 lab	e7e6a494ec
16:396839 AXIN1 G>A	16	396839	396839	G	A	AXIN1	c.187C>T	NM_003502.4	NP_003493.1:p.(Arg63Cys)	NC_000016.9:g.396839G>A	VUS	1 lab	e7e6ab1f20
12:49418678 KMT2D T>G	12	49418678	49418678	T	G	KMT2D	c.15836A>C	NM_003482.4	NP_003473.3:p.(Asp5279Ala)	NC_000012.11:g.49418678T>G	(Likely) benign	1 lab	e7e6f2c34a
9:136199389 SURF6 T>G	9	136199389	136199389	T	G	SURF6	c.601A>C	NM_006753.6	NP_006744.2:p.(Asn201His)	NC_000009.11:g.136199389T>G	(Likely) benign	1 lab	e7e785fb5f
16:88799864 PIEZO1 TGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGG>T	16	88799864	88799932	TGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGG	T	PIEZO1	c.2488-34_2488-3del	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799901_88799932del	(Likely) benign	1 lab	e7e7ed1d30
15:51696731 GLDN G>T	15	51696731	51696731	G	T	GLDN	c.1436G>T	NM_181789.4	NP_861454.2:p.(Arg479Leu)	NC_000015.9:g.51696731G>T	VUS	1 lab	e7e802904b
17:65714209 NOL11 A>T	17	65714209	65714209	A	T	NOL11	c.141+5A>T	NM_015462.5	NP_056277.2:p.?	NC_000017.10:g.65714209A>T	(Likely) benign	1 lab	e7eab61dba
1:119456739 TBX15 T>C	1	119456739	119456739	T	C	TBX15	c.925A>G	NM_001330677.2	NP_001317606.1:p.(Arg309Gly)	NC_000001.10:g.119456739T>C	VUS	1 lab	e7eb2f485c
X:16846277 TXLNG A>G	X	16846277	16846277	A	G	TXLNG	c.559A>G	NM_018360.3	NP_060830.2:p.(Ile187Val)	NC_000023.10:g.16846277A>G	(Likely) benign	1 lab	e7ecf33cc3
9:98211590 PTCH1 C>T	9	98211590	98211590	C	T	PTCH1	c.3565G>A	NM_000264.5	NP_000255.2:p.(Gly1189Ser)	NC_000009.11:g.98211590C>T	VUS	1 lab	e7ed1bef08
11:2905993 CDKN1C G>GC	11	2905993	2905994	G	GC	CDKN1C	c.726dup	NM_000076.2	NP_000067.1:p.(His243AlafsTer43)	NC_000011.9:g.2905994dup	(Likely) pathogenic	1 lab	2d315afc41
X:153540961 TKTL1 A>G	X	153540961	153540961	A	G	TKTL1	c.701A>G	NM_012253.4	NP_036385.3:p.(Lys234Arg)	NC_000023.10:g.153540961A>G	VUS	1 lab	e7eedeb9ff
6:99374760 FBXL4 A>T	6	99374760	99374760	A	T	FBXL4	c.105T>A	NM_001278716.2	NP_001265645.1:p.(His35Gln)	NC_000006.11:g.99374760A>T	(Likely) benign	1 lab	e7ef4ae515
6:109771215 MICAL1 C>T	6	109771215	109771215	C	T	MICAL1	c.1265G>A	NM_022765.4	NP_073602.3:p.(Arg422Gln)	NC_000006.11:g.109771215C>T	VUS	1 lab	e7efd2a4e8
7:107600956 LAMB1 G>T	7	107600956	107600956	G	T	LAMB1	c.2248C>A	NM_002291.3	NP_002282.2:p.(Pro750Thr)	NC_000007.13:g.107600956G>T	VUS	1 lab	e7f0fdae8e
7:113558921 PPP1R3A C>T	7	113558921	113558921	C	T	PPP1R3A	c.131G>A	NM_002711.4	NP_002702.2:p.(Arg44Gln)	NC_000007.13:g.113558921C>T	(Likely) benign	1 lab	e7f2edfc62
12:112681817 HECTD4 G>GA	12	112681817	112681825	G	GA	HECTD4	c.4514-5dup	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112681825dup	(Likely) benign	1 lab	e7f3080f9d
17:59870989 BRIP1 C>T	17	59870989	59870989	C	T	BRIP1	c.1442G>A	NM_032043.3	NP_114432.2:p.(Gly481Asp)	NC_000017.10:g.59870989C>T	(Likely) benign	1 lab	e7f4093d56
1:152280671 FLG A>C	1	152280671	152280671	A	C	FLG	c.6691T>G	NM_002016.2	NP_002007.1:p.(Ser2231Ala)	NC_000001.10:g.152280671A>C	(Likely) benign	1 lab	e7f5283fce
13:77532064 ACOD1 CCAGAGGTAG>C	13	77532064	77532074	CCAGAGGTAG	C	ACOD1	c.1392_1400del	NM_001258406.2	NP_001245335.1:p.(Glu465_Ala467del)	NC_000013.10:g.77532066_77532074del	(Likely) benign	1 lab	e7f5495a5a
2:47641424 MSH2 T>C	2	47641424	47641424	T	C	MSH2	c.809T>C	NM_000251.3	NP_000242.1:p.(Leu270Pro)	NC_000002.11:g.47641424T>C	(Likely) pathogenic	1 lab	e7f619786b
6:152804239 SYNE1 C>A	6	152804239	152804239	C	A	SYNE1	c.1331G>T	NM_182961.4	NP_892006.3:p.(Arg444Leu)	NC_000006.11:g.152804239C>A	VUS	1 lab	e7f7b19ba2
22:23915546 IGLL1 G>A	22	23915546	23915546	G	A	IGLL1	c.549C>T	NM_020070.4	NP_064455.1:p.(Pro183=)	NC_000022.10:g.23915546G>A	(Likely) benign	1 lab	e7f9b8920a
4:166929102 TLL1 G>A	4	166929102	166929102	G	A	TLL1	c.819G>A	NM_012464.5	NP_036596.3:p.(Glu273=)	NC_000004.11:g.166929102G>A	(Likely) benign	1 lab	e7fa1028ae
2:109513565 EDAR C>T	2	109513565	109513565	C	T	EDAR	c.1145G>A	NM_022336.4	NP_071731.1:p.(Gly382Asp)	NC_000002.11:g.109513565C>T	VUS	1 lab	e7fa13ee23
14:70245899 SLC10A1 C>T	14	70245899	70245899	C	T	SLC10A1	c.746G>A	NM_003049.4	NP_003040.1:p.(Arg249Gln)	NC_000014.8:g.70245899C>T	VUS	1 lab	e7fb61e2ca
20:941070 RSPO4 C>T	20	941070	941070	C	T	RSPO4	c.635G>A	NM_001029871.4	NP_001025042.2:p.(Arg212His)	NC_000020.10:g.941070C>T	VUS	1 lab	e7fb86b013
14:73973220 HEATR4 C>T	14	73973220	73973220	C	T	HEATR4	c.1937G>A	NM_001220484.1	NP_001207413.1:p.(Arg646Gln)	NC_000014.8:g.73973220C>T	VUS	1 lab	e7fbddb866
1:22181937 HSPG2 C>T	1	22181937	22181937	C	T	HSPG2	c.5857G>A	NM_005529.7	NP_005520.4:p.(Gly1953Ser)	NC_000001.10:g.22181937C>T	VUS	1 lab	e7fc4ae284
16:3646184 SLX4 C>A	16	3646184	3646184	C	A	SLX4	c.1894G>T	NM_032444.4	NP_115820.2:p.(Gly632Trp)	NC_000016.9:g.3646184C>A	VUS	1 lab	e7fd43285c
11:18738464 IGSF22 T>G	11	18738464	18738464	T	G	IGSF22	c.1057A>C	NM_173588.4	NP_775859.4:p.(Lys353Gln)	NC_000011.9:g.18738464T>G	VUS	1 lab	e7fdde0046
9:32459373 RIGI A>G	9	32459373	32459373	A	G	RIGI	c.2477T>C	NM_014314.4	NP_055129.2:p.(Ile826Thr)	NC_000009.11:g.32459373A>G	VUS	1 lab	e7ff59d20e
2:73827897 ALMS1 G>A	2	73827897	73827897	G	A	ALMS1	c.11764G>A	NM_015120.4	NP_055935.4:p.(Glu3922Lys)	NC_000002.11:g.73827897G>A	VUS	1 lab	2d32193435
2:179421975 TTN C>T	2	179421975	179421975	C	T	TTN	c.88009+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179421975C>T	VUS	1 lab	e801ed621f
17:2604528 CLUH C>A	17	2604528	2604528	C	A	CLUH	c.931G>T	NM_001366661.1	NP_001353590.1:p.(Ala311Ser)	NC_000017.10:g.2604528C>A	VUS	1 lab	e8025f02ba
15:52672009 MYO5A C>T	15	52672009	52672009	C	T	MYO5A	c.2099+10G>A	NM_001382347.1	NP_001369276.1:p.?	NC_000015.9:g.52672009C>T	(Likely) benign	1 lab	e802771e0f
13:28498579 PDX1 G>C	13	28498579	28498579	G	C	PDX1	c.593G>C	NM_000209.4	NP_000200.1:p.(Arg198Pro)	NC_000013.10:g.28498579G>C	VUS	1 lab	e802d97080
1:120548117 NOTCH2 T>C	1	120548117	120548117	T	C	NOTCH2	c.250A>G	NM_024408.4	NP_077719.2:p.(Met84Val)	NC_000001.10:g.120548117T>C	VUS	1 lab	e803622f59
3:133327785 TOPBP1 C>T	3	133327785	133327785	C	T	TOPBP1	c.4195G>A	NM_007027.4	NP_008958.2:p.(Val1399Ile)	NC_000003.11:g.133327785C>T	VUS	1 lab	e803cc5873
2:152435840 NEB C>G	2	152435840	152435840	C	G	NEB	c.16704+12G>C	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152435840C>G	(Likely) benign	1 lab	2d33cccb97
11:66620846 PC G>A	11	66620846	66620846	G	A	PC	c.1377C>T	NM_001040716.2	NP_001035806.1:p.(Ile459=)	NC_000011.9:g.66620846G>A	VUS	1 lab	e804783787
1:226050476 TMEM63A C>G	1	226050476	226050476	C	G	TMEM63A	c.822G>C	NM_014698.3	NP_055513.2:p.(Lys274Asn)	NC_000001.10:g.226050476C>G	(Likely) benign	1 lab	e807f64932
8:144999043 PLEC C>T	8	144999043	144999043	C	T	PLEC	c.5054G>A	NM_201384.3	NP_958786.1:p.(Arg1685Gln)	NC_000008.10:g.144999043C>T	VUS	1 lab	e80852f4e9
2:33526661 LTBP1 G>A	2	33526661	33526661	G	A	LTBP1	c.3431G>A	NM_206943.4	NP_996826.3:p.(Cys1144Tyr)	NC_000002.11:g.33526661G>A	VUS	1 lab	e8089e893b
1:36074927 PSMB2 G>A	1	36074927	36074927	G	A	PSMB2	c.368C>T	NM_002794.5	NP_002785.1:p.(Ala123Val)	NC_000001.10:g.36074927G>A	(Likely) benign	1 lab	e808f3a391
4:1940168 NSD2 T>A	4	1940168	1940168	T	A	NSD2	c.1675-10T>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1940168T>A	(Likely) benign	1 lab	e809bd0d71
10:64952914 JMJD1C A>G	10	64952914	64952914	A	G	JMJD1C	c.5863-3T>C	NM_032776.3	NP_116165.1:p.?	NC_000010.10:g.64952914A>G	(Likely) benign	1 lab	e80baf0a82
16:16235079 ABCC1 G>A	16	16235079	16235079	G	A	ABCC1	c.4537G>A	NM_004996.4	NP_004987.2:p.(Asp1513Asn)	NC_000016.9:g.16235079G>A	(Likely) benign	1 lab	e811144da7
16:72831493 ZFHX3 AG>A	16	72831493	72831495	AG	A	ZFHX3	c.5087del	NM_006885.4	NP_008816.3:p.(Pro1696LeufsTer23)	NC_000016.9:g.72831495del	VUS	1 lab	e811a82a0b
19:4947113 UHRF1 T>G	19	4947113	4947113	T	G	UHRF1	c.1411-4T>G	NM_001048201.3	NP_001041666.1:p.?	NC_000019.9:g.4947113T>G	VUS	1 lab	e8120a3b8d
2:61244983 PEX13 T>C	2	61244983	61244983	T	C	PEX13	c.89T>C	NM_002618.4	NP_002609.1:p.(Phe30Ser)	NC_000002.11:g.61244983T>C	VUS	1 lab	e813d3ccc5
20:49511050 ADNP C>T	20	49511050	49511050	C	T	ADNP	c.202-1G>A	NM_001282531.3	NP_001269460.1:p.?	NC_000020.10:g.49511050C>T	(Likely) pathogenic	1 lab	e81557bb23
9:711743 KANK1 C>T	9	711743	711743	C	T	KANK1	c.977C>T	NM_015158.5	NP_055973.2:p.(Ala326Val)	NC_000009.11:g.711743C>T	VUS	1 lab	e817024bad
2:29294589 PCARE C>G	2	29294589	29294589	C	G	PCARE	c.2539G>C	NM_001029883.3	NP_001025054.1:p.(Glu847Gln)	NC_000002.11:g.29294589C>G	(Likely) benign	1 lab	e81706c3b7
17:78032718 CCDC40 T>A	17	78032718	78032718	T	A	CCDC40	c.1379T>A	NM_017950.4	NP_060420.2:p.(Phe460Tyr)	NC_000017.10:g.78032718T>A	VUS	1 lab	e817e6138e
4:3188421 HTT G>A	4	3188421	3188421	G	A	HTT	c.4964G>A	NM_001388492.1	NP_001375421.1:p.(Ser1655Asn)	NC_000004.11:g.3188421G>A	VUS	1 lab	e819b474e3
16:28493629 CLN3 CTGCCCTCGCTCCTCTTACCAGCGGTAT>C	16	28493629	28493659	CTGCCCTCGCTCCTCTTACCAGCGGTAT	C	CLN3	c.954_962+18del	NM_001042432.2	NP_001035897.1:p.?	NC_000016.9:g.28493633_28493659del	(Likely) pathogenic	1 lab	2d344f12bb
19:38798306 YIF1B T>G	19	38798306	38798306	T	G	YIF1B	c.626A>C	NM_001039672.3	NP_001034761.1:p.(Tyr209Ser)	NC_000019.9:g.38798306T>G	VUS	1 lab	e81a585331
11:22242756 ANO5 G>A	11	22242756	22242756	G	A	ANO5	c.294G>A	NM_213599.3	NP_998764.1:p.(Ala98=)	NC_000011.9:g.22242756G>A	(Likely) benign	1 lab	2d38f5a339
9:140005383 DPP7 G>A	9	140005383	140005383	G	A	DPP7	c.1292C>T	NM_013379.3	NP_037511.2:p.(Ala431Val)	NC_000009.11:g.140005383G>A	(Likely) benign	1 lab	e81ca11c0d
1:209804095 LAMB3 G>A	1	209804095	209804095	G	A	LAMB3	c.823-15C>T	NM_001017402.2	NP_001017402.1:p.?	NC_000001.10:g.209804095G>A	(Likely) benign	1 lab	2d3e33dadc
16:1291989 TPSAB1 C>A	16	1291989	1291989	C	A	TPSAB1	c.661C>A	NM_003294.4	NP_003285.2:p.(Gln221Lys)	NC_000016.9:g.1291989C>A	(Likely) benign	1 lab	e81ea94cf1
11:47355280 MYBPC3 G>C	11	47355280	47355280	G	C	MYBPC3	c.3018C>G	NM_000256.3	NP_000247.2:p.(Thr1006=)	NC_000011.9:g.47355280G>C	(Likely) benign	1 lab	e8201791e0
14:91773573 CCDC88C A>G	14	91773573	91773573	A	G	CCDC88C	c.3007-3T>C	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91773573A>G	VUS	1 lab	e9840e6fdf
11:102056742 YAP1 A>T	11	102056742	102056742	A	T	YAP1	c.689-7A>T	NM_001130145.3	NP_001123617.1:p.?	NC_000011.9:g.102056742A>T	(Likely) benign	1 lab	e82154a2d6
11:20648380 SLC6A5 G>A	11	20648380	20648380	G	A	SLC6A5	c.1387G>A	NM_004211.5	NP_004202.4:p.(Asp463Asn)	NC_000011.9:g.20648380G>A	(Likely) benign	1 lab	2d40b80af9
9:137727030 COL5A1 G>C	9	137727030	137727030	G	C	COL5A1	c.5350G>C	NM_000093.5	NP_000084.3:p.(Ala1784Pro)	NC_000009.11:g.137727030G>C	VUS	1 lab	e822cb2f41
3:44611677 ZKSCAN7 G>A	3	44611677	44611677	G	A	ZKSCAN7	c.1075G>A	NM_001288590.2	NP_001275519.1:p.(Glu359Lys)	NC_000003.11:g.44611677G>A	VUS	1 lab	e823cd8bfb
17:71192873 COG1 A>G	17	71192873	71192873	A	G	COG1	c.543A>G	NM_018714.3	NP_061184.1:p.(Ala181=)	NC_000017.10:g.71192873A>G	(Likely) benign	1 lab	2d42bb7e4d
X:133609285 HPRT1 G>A	X	133609285	133609285	G	A	HPRT1	c.209G>A	NM_000194.3	NP_000185.1:p.(Gly70Glu)	NC_000023.10:g.133609285G>A	(Likely) pathogenic	1 lab	2ffcec6130
20:3891273 PANK2 A>C	20	3891273	3891273	A	C	PANK2	c.701A>C	NM_001386393.1	NP_001373322.1:p.(Lys234Thr)	NC_000020.10:g.3891273A>C	(Likely) benign	1 lab	e8255ea5fb
8:33364808 TTI2 G>C	8	33364808	33364808	G	C	TTI2	c.866C>G	NM_001102401.4	NP_001095871.1:p.(Ala289Gly)	NC_000008.10:g.33364808G>C	VUS	1 lab	e82a591ad2
13:50204496 ARL11 C>T	13	50204496	50204496	C	T	ARL11	c.-18-70C>T	NM_138450.6	NP_612459.1:p.?	NC_000013.10:g.50204496C>T	VUS	1 lab	e82b7ecc5d
11:32421527 WT1 T>A	11	32421527	32421527	T	A	WT1	c.1080A>T	NM_024426.6	NP_077744.4:p.(Arg360Ser)	NC_000011.9:g.32421527T>A	VUS	1 lab	e82ca0973d
16:88802814 PIEZO1 TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCACACCTGCGCGGCAGAGGGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCAC>T	16	88802814	88802951	TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCACACCTGCGCGGCAGAGGGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCAC	T	PIEZO1	c.1296+111_1298del	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88802830_88802951del	VUS	1 lab	e82d755f50
1:201181762 IGFN1 C>T	1	201181762	201181762	C	T	IGFN1	c.7741C>T	NM_001164586.2	NP_001158058.1:p.(Leu2581Phe)	NC_000001.10:g.201181762C>T	(Likely) benign	1 lab	e82d934df8
9:98238358 PTCH1 G>A	9	98238358	98238358	G	A	PTCH1	c.1488C>T	NM_001083602.3	NP_001077071.1:p.(Ala496=)	NC_000009.11:g.98238358G>A	(Likely) benign	1 lab	d995867228
19:40384134 FCGBP A>C	19	40384134	40384134	A	C	FCGBP	c.9476T>G	NM_003890.3	NP_003881.2:p.(Val3159Gly)	NC_000019.9:g.40384134A>C	VUS	1 lab	e82e23902c
1:65301184 JAK1 G>A	1	65301184	65301184	G	A	JAK1	c.3264C>T	NM_002227.4	NP_002218.2:p.(Phe1088=)	NC_000001.10:g.65301184G>A	VUS	1 lab	e8300d47be
3:63898358 ATXN7 C>CCGGCAG	3	63898358	63898365	C	CCGGCAG	ATXN7	c.86_91dup	NM_001377405.1	NP_001364334.1:p.(Arg29_Gln30dup)	NC_000003.11:g.63898360_63898365dup	VUS	1 lab	e830e5e953
9:4286359 GLIS3 C>G	9	4286359	4286359	C	G	GLIS3	c.67G>C	NM_001042413.2	NP_001035878.1:p.(Val23Leu)	NC_000009.11:g.4286359C>G	(Likely) benign	1 lab	e8315033ef
20:1559025 SIRPB1 ACGTC>GT	20	1559025	1559029	ACGTC	GT	SIRPB1	c.388_392delinsAC	NM_006065.5	NP_006056.2:p.(Asp130_Val131delinsThr)	NC_000020.10:g.1559025_1559029delinsGT	VUS	1 lab	e8321f0266
10:89692981 PTEN TG>T	10	89692981	89692985	TG	T	PTEN	c.469del	NM_000314.8	NP_000305.3:p.(Glu157LysfsTer2)	NC_000010.10:g.89692985del	(Likely) pathogenic	1 lab	e83453c4ca
8:144992546 PLEC C>G	8	144992546	144992546	C	G	PLEC	c.11443G>C	NM_201384.3	NP_958786.1:p.(Gly3815Arg)	NC_000008.10:g.144992546C>G	(Likely) benign	1 lab	e83609dcf2
6:90486354 MDN1 C>T	6	90486354	90486354	C	T	MDN1	c.1786G>A	NM_014611.3	NP_055426.1:p.(Val596Ile)	NC_000006.11:g.90486354C>T	(Likely) benign	1 lab	e8360dffcc
18:2922149 LPIN2 G>A	18	2922149	2922149	G	A	LPIN2	c.2223C>T	NM_001375808.2	NP_001362737.1:p.(Ala741=)	NC_000018.9:g.2922149G>A	(Likely) benign	1 lab	e8362007d5
3:183681357 ABCC5 T>C	3	183681357	183681357	T	C	ABCC5	c.2051A>G	NM_005688.4	NP_005679.2:p.(Asn684Ser)	NC_000003.11:g.183681357T>C	VUS	1 lab	e8371185e2
22:27019292 CRYBA4 G>A	22	27019292	27019292	G	A	CRYBA4	c.134G>A	NM_001886.3	NP_001877.1:p.(Arg45Gln)	NC_000022.10:g.27019292G>A	(Likely) benign	1 lab	e83868f494
16:86545142 FOXF1 G>A	16	86545142	86545142	G	A	FOXF1	c.967G>A	NM_001451.3	NP_001442.2:p.(Ala323Thr)	NC_000016.9:g.86545142G>A	(Likely) benign	1 lab	e83bdb510f
2:179426079 TTN T>G	2	179426079	179426079	T	G	TTN	c.84780A>C	NM_001267550.2	NP_001254479.2:p.(Glu28260Asp)	NC_000002.11:g.179426079T>G	VUS	1 lab	e83be04cc3
17:61996121 GH1 G>A	17	61996121	61996121	G	A	GH1	c.10+6C>T	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61996121G>A	(Likely) benign	1 lab	e840e5a125
2:165947657 SCN3A T>C	2	165947657	165947657	T	C	SCN3A	c.5006A>G	NM_006922.4	NP_008853.3:p.(Tyr1669Cys)	NC_000002.11:g.165947657T>C	(Likely) pathogenic	1 lab	e841f8313d
15:42652235 CAPN3 C>A	15	42652235	42652235	C	A	CAPN3	c.232C>A	NM_000070.3	NP_000061.1:p.(Pro78Thr)	NC_000015.9:g.42652235C>A	VUS	1 lab	e84494e084
2:238268750 COL6A3 G>A	2	238268750	238268750	G	A	COL6A3	c.6263C>T	NM_004369.4	NP_004360.2:p.(Pro2088Leu)	NC_000002.11:g.238268750G>A	VUS	1 lab	e8458b710b
17:76447713 DNAH17 C>A	17	76447713	76447713	C	A	DNAH17	c.10572G>T	NM_173628.4	NP_775899.3:p.(Lys3524Asn)	NC_000017.10:g.76447713C>A	VUS	1 lab	e84664f292
4:147227162 SLC10A7 C>G	4	147227162	147227162	C	G	SLC10A7	c.472-1G>C	NM_001029998.6	NP_001025169.1:p.?	NC_000004.11:g.147227162C>G	VUS	1 lab	e849c4baab
9:126128552 CRB2 G>A	9	126128552	126128552	G	A	CRB2	c.661G>A	NM_173689.7	NP_775960.4:p.(Glu221Lys)	NC_000009.11:g.126128552G>A	VUS	1 lab	e84a66461d
22:41574829 EP300 A>G	22	41574829	41574829	A	G	EP300	c.7114A>G	NM_001429.4	NP_001420.2:p.(Met2372Val)	NC_000022.10:g.41574829A>G	VUS	1 lab	e84ae1188a
2:240946774 NDUFA10 C>A	2	240946774	240946774	C	A	NDUFA10	c.763G>T	NM_004544.4	NP_004535.1:p.(Val255Phe)	NC_000002.11:g.240946774C>A	VUS	1 lab	e84bfeb64d
22:28194932 MN1 G>GC	22	28194932	28194933	G	GC	MN1	c.1599_1600insG	NM_002430.3	NP_002421.3:p.(Gln534AlafsTer26)	NC_000022.10:g.28194932_28194933insC	(Likely) benign	1 lab	e84c6d0699
14:74988701 LTBP2 G>A	14	74988701	74988701	G	A	LTBP2	c.2701C>T	NM_000428.3	NP_000419.1:p.(Arg901Cys)	NC_000014.8:g.74988701G>A	VUS	1 lab	e84ca9ea64
15:66996283 SMAD6 C>CT	15	66996283	66996286	C	CT	SMAD6	c.690dup	NM_005585.5	NP_005576.3:p.(Arg231SerfsTer72)	NC_000015.9:g.66996286dup	VUS	1 lab	e84d17d06f
2:176043983 ATP5MC3 A>G	2	176043983	176043983	A	G	ATP5MC3	c.121-5T>C	NM_001689.5	NP_001680.1:p.?	NC_000002.11:g.176043983A>G	(Likely) benign	1 lab	e84d2479c3
22:32202124 DEPDC5 A>T	22	32202124	32202124	A	T	DEPDC5	c.1234A>T	NM_001242896.3	NP_001229825.1:p.(Ser412Cys)	NC_000022.10:g.32202124A>T	VUS	1 lab	e84efa4e50
X:129283506 AIFM1 T>C	X	129283506	129283506	T	C	AIFM1	c.287A>G	NM_004208.4	NP_004199.1:p.(Asn96Ser)	NC_000023.10:g.129283506T>C	VUS	1 lab	e8521a29e5
1:237670038 RYR2 T>G	1	237670038	237670038	T	G	RYR2	c.2642T>G	NM_001035.3	NP_001026.2:p.(Ile881Arg)	NC_000001.10:g.237670038T>G	(Likely) benign	1 lab	2ffd2fdc27
4:1738975 TACC3 G>A	4	1738975	1738975	G	A	TACC3	c.1756G>A	NM_006342.3	NP_006333.1:p.(Gly586Ser)	NC_000004.11:g.1738975G>A	VUS	1 lab	e852c0c10e
2:158978085 UPP2 C>T	2	158978085	158978085	C	T	UPP2	c.619C>T	NM_173355.4	NP_775491.1:p.(Pro207Ser)	NC_000002.11:g.158978085C>T	(Likely) benign	1 lab	e853e666ef
2:179605591 TTN G>A	2	179605591	179605591	G	A	TTN	c.12369C>T	NM_001267550.2	NP_001254479.2:p.(Leu4123=)	NC_000002.11:g.179605591G>A	VUS	1 lab	e855b7c2f9
1:179352675 AXDND1 C>T	1	179352675	179352675	C	T	AXDND1	c.737C>T	NM_144696.6	NP_653297.3:p.(Thr246Met)	NC_000001.10:g.179352675C>T	VUS	1 lab	e858253b0a
16:2143070 PKD1 GAA>G	16	2143070	2143075	GAA	G	PKD1	c.11039_11040del	NM_001009944.3	NP_001009944.3:p.(Phe3680SerfsTer41)	NC_000016.9:g.2143074_2143075del	(Likely) pathogenic	1 lab	e858db1a2d
15:73590911 NEO1 A>G	15	73590911	73590911	A	G	NEO1	c.4124A>G	NM_002499.4	NP_002490.2:p.(Tyr1375Cys)	NC_000015.9:g.73590911A>G	VUS	1 lab	e85a4ea601
10:76788268 KAT6B G>A	10	76788268	76788268	G	A	KAT6B	c.3686G>A	NM_012330.4	NP_036462.2:p.(Ser1229Asn)	NC_000010.10:g.76788268G>A	(Likely) benign	1 lab	e85a94893b
X:48209429 SSX3 C>T	X	48209429	48209429	C	T	SSX3	c.459G>A	NM_021014.4	NP_066294.1:p.(Met153Ile)	NC_000023.10:g.48209429C>T	(Likely) benign	1 lab	e85af0b3f8
20:22563682 FOXA2 C>T	20	22563682	22563682	C	T	FOXA2	c.198G>A	NM_021784.5	NP_068556.2:p.(Ala66=)	NC_000020.10:g.22563682C>T	(Likely) benign	1 lab	2d48a651f7
12:418989 KDM5A T>C	12	418989	418989	T	C	KDM5A	c.3358A>G	NM_001042603.3	NP_001036068.1:p.(Thr1120Ala)	NC_000012.11:g.418989T>C	(Likely) benign	1 lab	e85f9a1b9e
1:2238165 SKI G>GGCTGCGGGCAGCGAGGGC	1	2238165	2238190	G	GGCTGCGGGCAGCGAGGGC	SKI	c.2156_2173dup	NM_003036.4	NP_003027.1:p.(Gly719_Ala724dup)	NC_000001.10:g.2238173_2238190dup	VUS	1 lab	e861c3b520
8:145739611 RECQL4 A>G	8	145739611	145739611	A	G	RECQL4	c.1840T>C	NM_004260.4	NP_004251.4:p.(Ser614Pro)	NC_000008.10:g.145739611A>G	(Likely) benign	1 lab	e8628b28be
19:15224715 SYDE1 G>C	19	15224715	15224715	G	C	SYDE1	c.2149G>C	NM_033025.6	NP_149014.3:p.(Asp717His)	NC_000019.9:g.15224715G>C	VUS	1 lab	e8634bf600
19:36223522 KMT2B CGAG>C	19	36223522	36223531	CGAG	C	KMT2B	c.6079_6081del	NM_014727.3	NP_055542.1:p.(Glu2027del)	NC_000019.9:g.36223529_36223531del	VUS	1 lab	e863c16b3d
19:47214281 PRKD2 C>T	19	47214281	47214281	C	T	PRKD2	c.394G>A	NM_016457.5	NP_057541.2:p.(Glu132Lys)	NC_000019.9:g.47214281C>T	VUS	1 lab	e863ce74be
2:121742248 GLI2 G>A	2	121742248	121742248	G	A	GLI2	c.1834G>A	NM_001374353.1	NP_001361282.1:p.(Glu612Lys)	NC_000002.11:g.121742248G>A	(Likely) benign	1 lab	e865495fc0
19:41847933 TGFB1 A>T	19	41847933	41847933	A	T	TGFB1	c.715T>A	NM_000660.7	NP_000651.3:p.(Phe239Ile)	NC_000019.9:g.41847933A>T	(Likely) benign	1 lab	e865db4e8b
X:122757144 THOC2 G>A	X	122757144	122757144	G	A	THOC2	c.3504-10C>T	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122757144G>A	(Likely) benign	1 lab	e8665ca649
5:122714134 CEP120 T>TA	5	122714134	122714152	T	TA	CEP120	c.2104-13dup	NM_153223.3	NP_694955.2:p.?	NC_000005.9:g.122714152dup	(Likely) benign	1 lab	2ffebfea59
3:69037662 EOGT G>A	3	69037662	69037662	G	A	EOGT	c.991C>T	NM_001278689.2	NP_001265618.1:p.(Pro331Ser)	NC_000003.11:g.69037662G>A	VUS	1 lab	e86bd4cc02
15:34064326 RYR3 G>A	15	34064326	34064326	G	A	RYR3	c.9022G>A	NM_001036.6	NP_001027.3:p.(Val3008Ile)	NC_000015.9:g.34064326G>A	VUS	1 lab	e871a7e35e
1:26515001 CNKSR1 G>A	1	26515001	26515001	G	A	CNKSR1	c.1590+7G>A	NM_006314.3	NP_006305.2:p.?	NC_000001.10:g.26515001G>A	(Likely) benign	1 lab	e871b127bc
8:42188478 IKBKB G>C	8	42188478	42188478	G	C	IKBKB	c.2252G>C	NM_001556.3	NP_001547.1:p.(Cys751Ser)	NC_000008.10:g.42188478G>C	(Likely) benign	1 lab	e871c84d12
17:8021473 ALOXE3 G>C	17	8021473	8021473	G	C	ALOXE3	c.-165C>G	NM_021628.3	NP_067641.2:p.?	NC_000017.10:g.8021473G>C	(Likely) benign	1 lab	e873a9bc6c
11:118342709 KMT2A T>C	11	118342709	118342709	T	C	KMT2A	c.835T>C	NM_001197104.2	NP_001184033.1:p.(Ser279Pro)	NC_000011.9:g.118342709T>C	VUS	1 lab	e87498926a
11:47605985 NDUFS3 G>GGA	11	47605985	47605990	G	GGA	NDUFS3	c.751_752dup	NM_004551.3	NP_004542.1:p.(Ser251ArgfsTer37)	NC_000011.9:g.47605989_47605990dup	VUS	1 lab	e8780562e1
9:140611221 EHMT1 G>A	9	140611221	140611221	G	A	EHMT1	c.229G>A	NM_024757.5	NP_079033.4:p.(Ala77Thr)	NC_000009.11:g.140611221G>A	(Likely) benign	1 lab	e8780de36c
10:89469087 PAPSS2 T>C	10	89469087	89469087	T	C	PAPSS2	c.145+17T>C	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89469087T>C	(Likely) benign	1 lab	e879422c7c
14:20869194 TEP1 G>A	14	20869194	20869194	G	A	TEP1	c.1498C>T	NM_007110.5	NP_009041.2:p.(Arg500Trp)	NC_000014.8:g.20869194G>A	(Likely) benign	1 lab	e879ae0217
5:134364723 PITX1 G>T	5	134364723	134364723	G	T	PITX1	c.691C>A	NM_002653.5	NP_002644.4:p.(Pro231Thr)	NC_000005.9:g.134364723G>T	VUS	1 lab	e87bba335a
6:129833632 LAMA2 T>C	6	129833632	129833632	T	C	LAMA2	c.8982T>C	NM_000426.4	NP_000417.3:p.(Asp2994=)	NC_000006.11:g.129833632T>C	(Likely) benign	1 lab	e87cbf584d
12:39751185 KIF21A C>G	12	39751185	39751185	C	G	KIF21A	c.1270G>C	NM_001173464.2	NP_001166935.1:p.(Glu424Gln)	NC_000012.11:g.39751185C>G	VUS	1 lab	e8810661f1
1:155733358 GON4L G>A	1	155733358	155733358	G	A	GON4L	c.4474-3C>T	NM_001282860.2	NP_001269789.1:p.?	NC_000001.10:g.155733358G>A	(Likely) benign	1 lab	e88114ea26
1:10042369 NMNAT1 G>C	1	10042369	10042369	G	C	NMNAT1	c.450G>C	NM_022787.4	NP_073624.2:p.(Lys150Asn)	NC_000001.10:g.10042369G>C	(Likely) benign	1 lab	e8811b60a7
1:152279734 FLG C>T	1	152279734	152279734	C	T	FLG	c.7628G>A	NM_002016.2	NP_002007.1:p.(Ser2543Asn)	NC_000001.10:g.152279734C>T	(Likely) benign	1 lab	e892d80e2a
13:73421552 PIBF1 C>T	13	73421552	73421552	C	T	PIBF1	c.1224-6643C>T	NM_006346.4	NP_006337.2:p.?	NC_000013.10:g.73421552C>T	(Likely) benign	1 lab	e8852afefe
1:1269021 TAS1R3 C>T	1	1269021	1269021	C	T	TAS1R3	c.1736C>T	NM_152228.3	NP_689414.2:p.(Ala579Val)	NC_000001.10:g.1269021C>T	(Likely) benign	1 lab	e887e4f29a
11:65343834 EHBP1L1 G>A	11	65343834	65343834	G	A	EHBP1L1	c.61G>A	NM_001099409.3	NP_001092879.1:p.(Val21Met)	NC_000011.9:g.65343834G>A	(Likely) benign	1 lab	e889ec3fef
10:97370548 ALDH18A1 C>T	10	97370548	97370548	C	T	ALDH18A1	c.2110+465G>A	NM_002860.4	NP_002851.2:p.?	NC_000010.10:g.97370548C>T	VUS	1 lab	e88ab53697
6:35213136 SCUBE3 G>A	6	35213136	35213136	G	A	SCUBE3	c.2533G>A	NM_152753.4	NP_689966.2:p.(Val845Met)	NC_000006.11:g.35213136G>A	VUS	1 lab	e88cbb4229
1:63881583 ALG6 A>G	1	63881583	63881583	A	G	ALG6	c.942A>G	NM_013339.4	NP_037471.2:p.(Ile314Met)	NC_000001.10:g.63881583A>G	VUS	1 lab	e88d1535e7
11:44146355 EXT2 C>T	11	44146355	44146355	C	T	EXT2	c.760C>T	NM_207122.2	NP_997005.1:p.(Leu254Phe)	NC_000011.9:g.44146355C>T	VUS	1 lab	e88fd613e5
8:11607676 GATA4 G>A	8	11607676	11607676	G	A	GATA4	c.843G>A	NM_001308093.3	NP_001295022.1:p.(Thr281=)	NC_000008.10:g.11607676G>A	(Likely) benign	1 lab	e8910550ad
2:227898172 COL4A4 G>A	2	227898172	227898172	G	A	COL4A4	c.3531C>T	NM_000092.4	NP_000083.3:p.(Asn1177=)	NC_000002.11:g.227898172G>A	(Likely) benign	1 lab	3001434fbd
6:26204906 H4C5 G>T	6	26204906	26204906	G	T	H4C5	c.34G>T	NM_003545.4	NP_003536.1:p.(Gly12Cys)	NC_000006.11:g.26204906G>T	VUS	1 lab	e893096333
X:8434128 VCX3B C>G	X	8434128	8434128	C	G	VCX3B	c.445C>G	NM_001001888.4	NP_001001888.3:p.(Gln149Glu)	NC_000023.10:g.8434128C>G	(Likely) benign	1 lab	e8934eb3d7
6:30889969 VARS2 G>A	6	30889969	30889969	G	A	VARS2	c.1883G>A	NM_020442.6	NP_065175.4:p.(Arg628His)	NC_000006.11:g.30889969G>A	(Likely) pathogenic	1 lab	e8953d007c
17:65905735 BPTF TAAAAG>T	17	65905735	65905744	TAAAAG	T	BPTF	c.2855_2859del	NM_182641.4	NP_872579.2:p.(Arg952MetfsTer13)	NC_000017.10:g.65905740_65905744del	(Likely) pathogenic	1 lab	e895a165a3
X:83128591 CYLC1 C>T	X	83128591	83128591	C	T	CYLC1	c.875C>T	NM_021118.3	NP_066941.1:p.(Ala292Val)	NC_000023.10:g.83128591C>T	(Likely) benign	1 lab	e896417bd5
19:14030023 CC2D1A T>C	19	14030023	14030023	T	C	CC2D1A	c.1222+8T>C	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14030023T>C	(Likely) benign	1 lab	e899319010
X:102864426 TCEAL3 A>G	X	102864426	102864426	A	G	TCEAL3	c.434A>G	NM_032926.3	NP_116315.1:p.(Asp145Gly)	NC_000023.10:g.102864426A>G	VUS	1 lab	e899b8b8b4
13:111870047 ARHGEF7 AATC>A	13	111870047	111870051	AATC	A	ARHGEF7	c.492_494del	NM_001354046.2	NP_001340975.1:p.(Asn164_Gln165delinsLys)	NC_000013.10:g.111870049_111870051del	VUS	1 lab	e89c19fc3b
X:47271836 ZNF157 C>G	X	47271836	47271836	C	G	ZNF157	c.364C>G	NM_003446.4	NP_003437.2:p.(Leu122Val)	NC_000023.10:g.47271836C>G	(Likely) benign	1 lab	e89c544d37
12:121437087 HNF1A GC>G	12	121437087	121437090	GC	G	HNF1A	c.1521del	NM_000545.8	NP_000536.6:p.(Glu508ArgfsTer23)	NC_000012.11:g.121437090del	(Likely) pathogenic	1 lab	e89cde4837
15:99459933 IGF1R A>G	15	99459933	99459933	A	G	IGF1R	c.2029A>G	NM_000875.5	NP_000866.1:p.(Thr677Ala)	NC_000015.9:g.99459933A>G	(Likely) benign	1 lab	e89d598d51
2:219497044 PLCD4 G>A	2	219497044	219497044	G	A	PLCD4	c.1449+9G>A	NM_032726.4	NP_116115.1:p.?	NC_000002.11:g.219497044G>A	(Likely) benign	1 lab	e89e1b13e5
4:153249481 FBXW7 T>A	4	153249481	153249481	T	A	FBXW7	c.1297A>T	NM_001349798.2	NP_001336727.1:p.(Ile433Phe)	NC_000004.11:g.153249481T>A	VUS	1 lab	e89f59edbb
21:35140105 ITSN1 CA>C	21	35140105	35140107	CA	C	ITSN1	c.1017del	NM_003024.3	NP_003015.2:p.(Gln339HisfsTer4)	NC_000021.8:g.35140107del	VUS	1 lab	e8a0de443d
7:31008500 GHRHR G>A	7	31008500	31008500	G	A	GHRHR	c.109G>A	NM_000823.4	NP_000814.2:p.(Asp37Asn)	NC_000007.13:g.31008500G>A	(Likely) benign	1 lab	e8a7720277
4:103808515 CISD2 T>C	4	103808515	103808515	T	C	CISD2	c.336T>C	NM_001008388.5	NP_001008389.1:p.(Gly112=)	NC_000004.11:g.103808515T>C	(Likely) benign	1 lab	e8a7843945
3:12791255 TMEM40 G>A	3	12791255	12791255	G	A	TMEM40	c.73+4C>T	NM_018306.4	NP_060776.2:p.?	NC_000003.11:g.12791255G>A	(Likely) benign	1 lab	e8a8539781
6:169051461 SMOC2 C>T	6	169051461	169051461	C	T	SMOC2	c.1008C>T	NM_001166412.2	NP_001159884.1:p.(Gly336=)	NC_000006.11:g.169051461C>T	VUS	1 lab	e8a85421b5
7:156802643 MNX1 A>AGCGGCG	7	156802643	156802672	A	AGCGGCG	MNX1	c.396_401dup	NM_005515.4	NP_005506.3:p.(Ala133_Ala134dup)	NC_000007.13:g.156802667_156802672dup	VUS	1 lab	e8a89a0e2b
11:102093984 YAP1 CAA>C	11	102093984	102094003	CAA	C	YAP1	c.1033-351_1033-350del	NM_001130145.3	NP_001123617.1:p.?	NC_000011.9:g.102094002_102094003del	(Likely) benign	1 lab	e8aa09ab71
3:58121806 FLNB G>T	3	58121806	58121806	G	T	FLNB	c.4772G>T	NM_001457.4	NP_001448.2:p.(Gly1591Val)	NC_000003.11:g.58121806G>T	VUS	1 lab	e8aa599676
1:150471093 TARS2 C>T	1	150471093	150471093	C	T	TARS2	c.1354C>T	NM_025150.5	NP_079426.2:p.(Arg452Trp)	NC_000001.10:g.150471093C>T	VUS	1 lab	e8ab795312
11:65830588 SF3B2 G>A	11	65830588	65830588	G	A	SF3B2	c.2085+1G>A	NM_006842.3	NP_006833.2:p.?	NC_000011.9:g.65830588G>A	VUS	1 lab	e8ac4d165a
10:89685245 PTEN TTTTG>T	10	89685245	89685260	TTTTG	T	PTEN	c.165-13_165-10del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89685257_89685260del	(Likely) benign	1 lab	e8ada52c31
7:27831786 TAX1BP1 A>G	7	27831786	27831786	A	G	TAX1BP1	c.1200A>G	NM_006024.7	NP_006015.4:p.(Lys400=)	NC_000007.13:g.27831786A>G	VUS	1 lab	e8adf95c8b
17:78175593 CARD14 G>A	17	78175593	78175593	G	A	CARD14	c.1902G>A	NM_001366385.1	NP_001353314.1:p.(Thr634=)	NC_000017.10:g.78175593G>A	(Likely) benign	1 lab	e8af32e7ec
20:4163019 SMOX A>G	20	4163019	4163019	A	G	SMOX	c.893A>G	NM_175839.3	NP_787033.1:p.(Glu298Gly)	NC_000020.10:g.4163019A>G	(Likely) benign	1 lab	e8b00bf1bb
20:43052780 HNF4A C>G	20	43052780	43052780	C	G	HNF4A	c.1015C>G	NM_000457.5	NP_000448.3:p.(Leu339Val)	NC_000020.10:g.43052780C>G	VUS	1 lab	e8b07607e8
22:25155838 PIWIL3 T>G	22	25155838	25155838	T	G	PIWIL3	c.221A>C	NM_001255975.1	NP_001242904.1:p.(Gln74Pro)	NC_000022.10:g.25155838T>G	(Likely) benign	1 lab	e8b2079b8c
1:151748578 TDRKH G>A	1	151748578	151748578	G	A	TDRKH	c.1211C>T	NM_001083965.2	NP_001077434.1:p.(Ala404Val)	NC_000001.10:g.151748578G>A	VUS	1 lab	e8b224f906
16:67692993 ACD G>A	16	67692993	67692993	G	A	ACD	c.494-11C>T	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67692993G>A	(Likely) benign	1 lab	e8b660a203
11:108168021 ATM G>A	11	108168021	108168021	G	A	ATM	c.4917G>A	NM_000051.4	NP_000042.3:p.(Pro1639=)	NC_000011.9:g.108168021G>A	(Likely) benign	1 lab	e8b935bf0c
4:2306307 ZFYVE28 G>A	4	2306307	2306307	G	A	ZFYVE28	c.1760C>T	NM_020972.3	NP_066023.2:p.(Pro587Leu)	NC_000004.11:g.2306307G>A	VUS	1 lab	e8d45f5dcc
4:5733380 EVC G>A	4	5733380	5733380	G	A	EVC	c.613G>A	NM_153717.3	NP_714928.1:p.(Glu205Lys)	NC_000004.11:g.5733380G>A	VUS	1 lab	e8b9c56108
9:2170471 SMARCA2 A>G	9	2170471	2170471	A	G	SMARCA2	c.4252A>G	NM_003070.5	NP_003061.3:p.(Ser1418Gly)	NC_000009.11:g.2170471A>G	VUS	1 lab	e8c904a0cb
15:75694308 SIN3A G>A	15	75694308	75694308	G	A	SIN3A	c.1411C>T	NM_001145358.2	NP_001138830.1:p.(Arg471Ter)	NC_000015.9:g.75694308G>A	(Likely) pathogenic	1 lab	e8bab60eb9
12:52159631 SCN8A G>C	12	52159631	52159631	G	C	SCN8A	c.2721G>C	NM_001330260.2	NP_001317189.1:p.(Lys907Asn)	NC_000012.11:g.52159631G>C	(Likely) benign	1 lab	e8bb35ab06
16:89613159 SPG7 G>C	16	89613159	89613159	G	C	SPG7	c.1543G>C	NM_003119.4	NP_003110.1:p.(Gly515Arg)	NC_000016.9:g.89613159G>C	VUS	1 lab	2d4fa0c272
X:153174934 ARHGAP4 T>G	X	153174934	153174934	T	G	ARHGAP4	c.2470A>C	NM_001666.5	NP_001657.3:p.(Ser824Arg)	NC_000023.10:g.153174934T>G	(Likely) benign	1 lab	e8bdb5f0f7
7:35284598 TBX20 ACCTTTTC>A	7	35284598	35284605	ACCTTTTC	A	TBX20	c.610_616del	NM_001077653.2	NP_001071121.1:p.(Glu204Ter)	NC_000007.13:g.35284599_35284605del	(Likely) pathogenic	1 lab	e8c0a3c783
6:32407810 HLA-DRA G>GAACATGTGATCATCCAGGCCGAGTTCTATCTGAATCCTGACCAATCAGGCGAGTT	6	32407810	32407811	G	GAACATGTGATCATCCAGGCCGAGTTCTATCTGAATCCTGACCAATCAGGCGAGTT	HLA-DRA	c.82+1_82+2insAACATGTGATCATCCAGGCCGAGTTCTATCTGAATCCTGACCAATCAGGCGAGTT	NM_019111.5	NP_061984.2:p.?	NC_000006.11:g.32407810_32407811insAACATGTGATCATCCAGGCCGAGTTCTATCTGAATCCTGACCAATCAGGCGAGTT	VUS	1 lab	e8c350a662
X:24086094 EIF2S3 T>C	X	24086094	24086094	T	C	EIF2S3	c.881T>C	NM_001415.4	NP_001406.1:p.(Ile294Thr)	NC_000023.10:g.24086094T>C	VUS	1 lab	e8c355d378
1:153789850 GATAD2B G>C	1	153789850	153789850	G	C	GATAD2B	c.898C>G	NM_020699.4	NP_065750.1:p.(Pro300Ala)	NC_000001.10:g.153789850G>C	VUS	1 lab	e8c463dcba
3:50616363 HEMK1 A>G	3	50616363	50616363	A	G	HEMK1	c.770+6A>G	NM_016173.5	NP_057257.1:p.?	NC_000003.11:g.50616363A>G	(Likely) benign	1 lab	e8c5490f3c
1:27023888 ARID1A A>G	1	27023888	27023888	A	G	ARID1A	c.994A>G	NM_006015.6	NP_006006.3:p.(Met332Val)	NC_000001.10:g.27023888A>G	VUS	1 lab	e8c76146ce
5:90074743 ADGRV1 C>T	5	90074743	90074743	C	T	ADGRV1	c.12911C>T	NM_032119.4	NP_115495.3:p.(Thr4304Met)	NC_000005.9:g.90074743C>T	VUS	1 lab	e8c785ded4
6:117198651 RFX6 A>G	6	117198651	117198651	A	G	RFX6	c.213A>G	NM_173560.4	NP_775831.2:p.(Ala71=)	NC_000006.11:g.117198651A>G	(Likely) benign	1 lab	e8c7a07346
3:13860463 WNT7A G>A	3	13860463	13860463	G	A	WNT7A	c.1028C>T	NM_004625.4	NP_004616.2:p.(Thr343Met)	NC_000003.11:g.13860463G>A	VUS	1 lab	e8c9248ffb
X:70373354 NLGN3 A>T	X	70373354	70373354	A	T	NLGN3	c.545A>T	NM_181303.2	NP_851820.1:p.(Asp182Val)	NC_000023.10:g.70373354A>T	VUS	1 lab	e8ca23fa87
20:62839672 MYT1 C>T	20	62839672	62839672	C	T	MYT1	c.1123C>T	NM_004535.3	NP_004526.1:p.(Arg375Trp)	NC_000020.10:g.62839672C>T	(Likely) benign	1 lab	e8cae8b948
22:41574295 EP300 C>G	22	41574295	41574295	C	G	EP300	c.6580C>G	NM_001429.4	NP_001420.2:p.(Gln2194Glu)	NC_000022.10:g.41574295C>G	(Likely) benign	1 lab	e8ce30f209
1:226054302 TMEM63A TGA>T	1	226054302	226054305	TGA	T	TMEM63A	c.645_646del	NM_014698.3	NP_055513.2:p.(Gln216ValfsTer3)	NC_000001.10:g.226054304_226054305del	VUS	1 lab	e8ce33ea0c
4:995270 IDUA G>C	4	995270	995270	G	C	IDUA	c.508G>C	NM_000203.5	NP_000194.2:p.(Ala170Pro)	NC_000004.11:g.995270G>C	VUS	1 lab	e8ce6b1ca4
3:49200342 CCDC71 G>A	3	49200342	49200342	G	A	CCDC71	c.1300C>T	NM_022903.4	NP_075054.3:p.(Arg434Trp)	NC_000003.11:g.49200342G>A	(Likely) benign	1 lab	e8d09630a0
2:166848453 SCN1A C>T	2	166848453	166848453	C	T	SCN1A	c.5332G>A	NM_001165963.3	NP_001159435.1:p.(Val1778Met)	NC_000002.11:g.166848453C>T	(Likely) pathogenic	1 lab	3001835cff
18:60036136 TNFRSF11A T>C	18	60036136	60036136	T	C	TNFRSF11A	c.986T>C	NM_003839.4	NP_003830.1:p.(Leu329Ser)	NC_000018.9:g.60036136T>C	(Likely) benign	1 lab	e8d30f4ac3
2:3691338 COLEC11 C>T	2	3691338	3691338	C	T	COLEC11	c.446C>T	NM_024027.5	NP_076932.1:p.(Thr149Met)	NC_000002.11:g.3691338C>T	VUS	1 lab	e8d3f5b5ec
X:103499034 ESX1 G>C	X	103499034	103499034	G	C	ESX1	c.307C>G	NM_153448.4	NP_703149.1:p.(Leu103Val)	NC_000023.10:g.103499034G>C	(Likely) benign	1 lab	e8d45a867b
19:52448479 ZNF613 G>A	19	52448479	52448479	G	A	ZNF613	c.1343G>A	NM_001031721.4	NP_001026891.2:p.(Arg448Lys)	NC_000019.9:g.52448479G>A	(Likely) benign	1 lab	e8d4a453a8
20:31023223 ASXL1 C>T	20	31023223	31023223	C	T	ASXL1	c.2708C>T	NM_015338.6	NP_056153.2:p.(Ser903Leu)	NC_000020.10:g.31023223C>T	(Likely) benign	1 lab	e8d4e84eb2
2:179477995 TTN C>G	2	179477995	179477995	C	G	TTN	c.49541G>C	NM_001267550.2	NP_001254479.2:p.(Gly16514Ala)	NC_000002.11:g.179477995C>G	VUS	1 lab	e8d5154ccc
X:24383343 SUPT20HL1 G>T	X	24383343	24383343	G	T	SUPT20HL1	c.2466G>T	NM_001136234.3	NP_001129706.3:p.(Gln822His)	NC_000023.10:g.24383343G>T	(Likely) benign	1 lab	e8d520e8f8
20:43047065 HNF4A G>A	20	43047065	43047065	G	A	HNF4A	c.649G>A	NM_000457.5	NP_000448.3:p.(Val217Met)	NC_000020.10:g.43047065G>A	VUS	1 lab	e8d65fd5c4
17:36895443 PCGF2 G>A	17	36895443	36895443	G	A	PCGF2	c.265+8C>T	NM_007144.3	NP_009075.1:p.?	NC_000017.10:g.36895443G>A	(Likely) benign	1 lab	e8d7500a19
2:179646949 TTN T>C	2	179646949	179646949	T	C	TTN	c.3370A>G	NM_001267550.2	NP_001254479.2:p.(Thr1124Ala)	NC_000002.11:g.179646949T>C	VUS	1 lab	e8d8a1fb08
22:38369942 SOX10 C>T	22	38369942	38369942	C	T	SOX10	c.961G>A	NM_006941.4	NP_008872.1:p.(Gly321Ser)	NC_000022.10:g.38369942C>T	VUS	1 lab	e8dde05147
X:150349148 GPR50 G>A	X	150349148	150349148	G	A	GPR50	c.1093G>A	NM_004224.3	NP_004215.2:p.(Val365Ile)	NC_000023.10:g.150349148G>A	(Likely) benign	1 lab	e8de5fd68d
10:50945993 OGDHL C>T	10	50945993	50945993	C	T	OGDHL	c.2517G>A	NM_018245.3	NP_060715.2:p.(Pro839=)	NC_000010.10:g.50945993C>T	VUS	1 lab	e8de77d747
14:100706120 YY1 G>A	14	100706120	100706120	G	A	YY1	c.539G>A	NM_003403.5	NP_003394.1:p.(Ser180Asn)	NC_000014.8:g.100706120G>A	(Likely) benign	1 lab	e8e0c0ca81
11:46895052 LRP4 T>C	11	46895052	46895052	T	C	LRP4	c.4322A>G	NM_002334.4	NP_002325.2:p.(Asn1441Ser)	NC_000011.9:g.46895052T>C	VUS	1 lab	e8e111e774
15:34123227 RYR3 C>G	15	34123227	34123227	C	G	RYR3	c.11398C>G	NM_001036.6	NP_001027.3:p.(His3800Asp)	NC_000015.9:g.34123227C>G	(Likely) benign	1 lab	e8e2b5d43c
11:66488917 SPTBN2 G>A	11	66488917	66488917	G	A	SPTBN2	c.-113-6C>T	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66488917G>A	(Likely) benign	1 lab	e8e513bc0e
X:76907790 ATRX CTCCTCCTCT>C	X	76907790	76907807	CTCCTCCTCT	C	ATRX	c.4362_4370del	NM_000489.6	NP_000480.3:p.(Glu1462_Glu1464del)	NC_000023.10:g.76907799_76907807del	(Likely) benign	1 lab	e8e5cbb477
7:40087455 CDK13 G>A	7	40087455	40087455	G	A	CDK13	c.2579G>A	NM_003718.5	NP_003709.3:p.(Arg860Gln)	NC_000007.13:g.40087455G>A	(Likely) pathogenic	1 lab	e8e5cf2bd6
1:119441745 TBX15 A>T	1	119441745	119441745	A	T	TBX15	c.930T>A	NM_001330677.2	NP_001317606.1:p.(Thr310=)	NC_000001.10:g.119441745A>T	VUS	1 lab	e8e5d8be69
X:149638811 MAMLD1 A>C	X	149638811	149638811	A	C	MAMLD1	c.966A>C	NM_005491.5	NP_005482.2:p.(Gln322His)	NC_000023.10:g.149638811A>C	VUS	1 lab	e8e5e272f4
12:52966328 KRT74 G>A	12	52966328	52966328	G	A	KRT74	c.595C>T	NM_175053.4	NP_778223.2:p.(Arg199Trp)	NC_000012.11:g.52966328G>A	VUS	1 lab	e8e8f8a80d
6:152694171 SYNE1 C>A	6	152694171	152694171	C	A	SYNE1	c.9507+1G>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152694171C>A	(Likely) pathogenic	1 lab	e8ea804f3b
11:65108547 DPF2 A>G	11	65108547	65108547	A	G	DPF2	c.301+3A>G	NM_006268.5	NP_006259.1:p.?	NC_000011.9:g.65108547A>G	(Likely) benign	1 lab	e8ea9a6e08
20:62371736 SLC2A4RG T>A	20	62371736	62371736	T	A	SLC2A4RG	c.133T>A	NM_020062.4	NP_064446.2:p.(Ser45Thr)	NC_000020.10:g.62371736T>A	VUS	1 lab	e8ebd2d58c
11:17491774 ABCC8 G>A	11	17491774	17491774	G	A	ABCC8	c.291-5C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17491774G>A	(Likely) benign	1 lab	e8ec695ebf
2:163136621 IFIH1 A>C	2	163136621	163136621	A	C	IFIH1	c.1526T>G	NM_022168.4	NP_071451.2:p.(Leu509Arg)	NC_000002.11:g.163136621A>C	VUS	1 lab	e8ec83ea40
3:130104088 COL6A5 C>T	3	130104088	130104088	C	T	COL6A5	c.1742C>T	NM_001278298.2	NP_001265227.1:p.(Ala581Val)	NC_000003.11:g.130104088C>T	(Likely) benign	1 lab	e8ed839212
13:77834735 MYCBP2 A>G	13	77834735	77834735	A	G	MYCBP2	c.1853-8T>C	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77834735A>G	(Likely) benign	1 lab	e8ee9baa26
16:17564478 XYLT1 G>A	16	17564478	17564478	G	A	XYLT1	c.176C>T	NM_022166.4	NP_071449.1:p.(Pro59Leu)	NC_000016.9:g.17564478G>A	(Likely) benign	1 lab	e8ef31fb00
20:2443300 SNRPB G>A	20	2443300	2443300	G	A	SNRPB	c.667C>T	NM_003091.4	NP_003082.1:p.(Pro223Ser)	NC_000020.10:g.2443300G>A	VUS	1 lab	e8efb529cd
11:695835 TMEM80 C>T	11	695835	695835	C	T	TMEM80	c.8C>T	NM_001042463.3	NP_001035928.3:p.(Ala3Val)	NC_000011.9:g.695835C>T	VUS	1 lab	e8efeba47d
18:2729403 SMCHD1 T>G	18	2729403	2729403	T	G	SMCHD1	c.3044T>G	NM_015295.3	NP_056110.2:p.(Ile1015Arg)	NC_000018.9:g.2729403T>G	VUS	1 lab	e8f02e74a1
13:32937361 BRCA2 G>T	13	32937361	32937361	G	T	BRCA2	c.8022G>T	NM_000059.4	NP_000050.3:p.(Lys2674Asn)	NC_000013.10:g.32937361G>T	VUS	1 lab	e8f0e2b503
9:139733862 RABL6 T>G	9	139733862	139733862	T	G	RABL6	c.1682T>G	NM_024718.5	NP_078994.3:p.(Ile561Ser)	NC_000009.11:g.139733862T>G	VUS	1 lab	e8f1f6f3e0
10:105670354 STN1 T>C	10	105670354	105670354	T	C	STN1	c.160A>G	NM_024928.5	NP_079204.2:p.(Ile54Val)	NC_000010.10:g.105670354T>C	(Likely) benign	1 lab	e8f2cbd273
1:160206942 DCAF8 T>C	1	160206942	160206942	T	C	DCAF8	c.942A>G	NM_015726.3	NP_056541.2:p.(Arg314=)	NC_000001.10:g.160206942T>C	(Likely) benign	1 lab	30044f49f8
X:131212658 FRMD7 G>A	X	131212658	131212658	G	A	FRMD7	c.1387C>T	NM_194277.3	NP_919253.1:p.(Leu463Phe)	NC_000023.10:g.131212658G>A	(Likely) benign	1 lab	e8f7b61fd7
19:13246512 NACC1 C>T	19	13246512	13246512	C	T	NACC1	c.491C>T	NM_052876.4	NP_443108.1:p.(Ser164Leu)	NC_000019.9:g.13246512C>T	VUS	1 lab	2d53f6078b
11:118347962 KMT2A C>T	11	118347962	118347962	C	T	KMT2A	c.3334+265C>T	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118347962C>T	(Likely) benign	1 lab	e8fdd6d833
22:50965623 TYMP C>T	22	50965623	50965623	C	T	TYMP	c.736G>A	NM_001953.5	NP_001944.1:p.(Glu246Lys)	NC_000022.10:g.50965623C>T	VUS	1 lab	e8fe10c31d
5:177420018 PROP1 G>A	5	177420018	177420018	G	A	PROP1	c.373C>T	NM_006261.5	NP_006252.4:p.(Arg125Trp)	NC_000005.9:g.177420018G>A	VUS	1 lab	e8ff178869
3:439921 CHL1 G>A	3	439921	439921	G	A	CHL1	c.3106G>A	NM_006614.4	NP_006605.2:p.(Gly1036Arg)	NC_000003.11:g.439921G>A	(Likely) benign	1 lab	e8ff9e9613
10:45485168 RASSF4 G>C	10	45485168	45485168	G	C	RASSF4	c.684G>C	NM_032023.4	NP_114412.2:p.(Gly228=)	NC_000010.10:g.45485168G>C	(Likely) benign	1 lab	e903fecd85
2:179424504 TTN A>G	2	179424504	179424504	A	G	TTN	c.86355T>C	NM_001267550.2	NP_001254479.2:p.(Asn28785=)	NC_000002.11:g.179424504A>G	(Likely) benign	1 lab	e9048185ce
11:125871707 CDON G>C	11	125871707	125871707	G	C	CDON	c.2065C>G	NM_001378964.1	NP_001365893.1:p.(Pro689Ala)	NC_000011.9:g.125871707G>C	VUS	1 lab	e905ada289
X:132161873 USP26 C>T	X	132161873	132161873	C	T	USP26	c.376G>A	NM_031907.3	NP_114113.1:p.(Glu126Lys)	NC_000023.10:g.132161873C>T	VUS	1 lab	e906881d97
4:79166407 FRAS1 T>C	4	79166407	79166407	T	C	FRAS1	c.237T>C	NM_025074.7	NP_079350.5:p.(Ala79=)	NC_000004.11:g.79166407T>C	(Likely) benign	1 lab	3005ceaaf2
8:23709878 STC1 G>A	8	23709878	23709878	G	A	STC1	c.138C>T	NM_003155.3	NP_003146.1:p.(Leu46=)	NC_000008.10:g.23709878G>A	(Likely) benign	1 lab	e90868416e
5:139930729 SRA1 C>T	5	139930729	139930729	C	T	SRA1	c.380G>A	NM_001035235.4	NP_001030312.3:p.(Arg127Gln)	NC_000005.9:g.139930729C>T	VUS	1 lab	e908c2d50f
11:2182108 INS C>T	11	2182108	2182108	C	T	INS	c.94G>A	NM_000207.3	NP_000198.1:p.(Gly32Ser)	NC_000011.9:g.2182108C>T	(Likely) pathogenic	1 lab	e909673666
7:99701292 AP4M1 G>A	7	99701292	99701292	G	A	AP4M1	c.520G>A	NM_004722.4	NP_004713.2:p.(Val174Ile)	NC_000007.13:g.99701292G>A	VUS	1 lab	e909a9376e
7:21747312 DNAH11 C>G	7	21747312	21747312	C	G	DNAH11	c.6547-5C>G	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21747312C>G	(Likely) benign	1 lab	e90c8f7552
1:205744494 RAB29 G>A	1	205744494	205744494	G	A	RAB29	c.-224C>T	NM_003929.3	NP_003920.1:p.?	NC_000001.10:g.205744494G>A	VUS	1 lab	e90d6d855e
2:10584284 ODC1 T>C	2	10584284	10584284	T	C	ODC1	c.386A>G	NM_002539.3	NP_002530.1:p.(Gln129Arg)	NC_000002.11:g.10584284T>C	VUS	1 lab	e90e0648b3
17:10543436 MYH3 C>T	17	10543436	10543436	C	T	MYH3	c.2559G>A	NM_002470.4	NP_002461.2:p.(Met853Ile)	NC_000017.10:g.10543436C>T	VUS	1 lab	e90f52f3c8
17:19246759 B9D1 G>A	17	19246759	19246759	G	A	B9D1	c.488C>T	NM_015681.5	NP_056496.1:p.(Ser163Phe)	NC_000017.10:g.19246759G>A	VUS	1 lab	e910215db9
22:37325582 CSF2RB G>A	22	37325582	37325582	G	A	CSF2RB	c.530G>A	NM_000395.3	NP_000386.1:p.(Arg177Gln)	NC_000022.10:g.37325582G>A	VUS	1 lab	d998d8f19a
11:66475090 SPTBN2 C>T	11	66475090	66475090	C	T	SPTBN2	c.1550G>A	NM_006946.4	NP_008877.2:p.(Arg517Gln)	NC_000011.9:g.66475090C>T	VUS	1 lab	e9122bc697
9:32449064 ACO1 G>C	9	32449064	32449064	G	C	ACO1	c.2541G>C	NM_002197.3	NP_002188.1:p.(Met847Ile)	NC_000009.11:g.32449064G>C	(Likely) benign	1 lab	e912b6de7a
1:76211571 ACADM A>G	1	76211571	76211571	A	G	ACADM	c.680A>G	NM_000016.6	NP_000007.1:p.(Asp227Gly)	NC_000001.10:g.76211571A>G	VUS	1 lab	e9138c89a6
X:50378234 SHROOM4 C>T	X	50378234	50378234	C	T	SHROOM4	c.839G>A	NM_020717.5	NP_065768.2:p.(Arg280Gln)	NC_000023.10:g.50378234C>T	(Likely) benign	1 lab	e913acb549
5:1294976 TERT G>A	5	1294976	1294976	G	A	TERT	c.129C>T	NM_198253.2	NP_937983.2:p.(Asp43=)	NC_000005.9:g.1294976G>A	(Likely) benign	1 lab	30083304e1
2:198358940 HSPD1 A>G	2	198358940	198358940	A	G	HSPD1	c.641T>C	NM_002156.5	NP_002147.2:p.(Ile214Thr)	NC_000002.11:g.198358940A>G	(Likely) benign	1 lab	e916c4a56a
7:140500178 BRAF C>T	7	140500178	140500178	C	T	BRAF	c.964G>A	NM_004333.6	NP_004324.2:p.(Ala322Thr)	NC_000007.13:g.140500178C>T	VUS	1 lab	e917a8dba8
16:72821642 ZFHX3 A>ACCGCCG	16	72821642	72821657	A	ACCGCCG	ZFHX3	c.10527_10532dup	NM_006885.4	NP_008816.3:p.(Gly3511_Gly3512dup)	NC_000016.9:g.72821652_72821657dup	VUS	1 lab	e927c4e8d9
1:27105707 ARID1A TAGAAGAGGA>T	1	27105707	27105722	TAGAAGAGGA	T	ARID1A	c.5325_5333del	NM_006015.6	NP_006006.3:p.(Glu1778_Glu1780del)	NC_000001.10:g.27105714_27105722del	(Likely) benign	1 lab	e91933eb8d
3:87309259 POU1F1 CG>C	3	87309259	87309265	CG	C	POU1F1	c.666-6del	NM_000306.4	NP_000297.1:p.?	NC_000003.11:g.87309265del	(Likely) benign	1 lab	e91991ee87
13:35923274 NBEA T>C	13	35923274	35923274	T	C	NBEA	c.5933T>C	NM_001385012.1	NP_001371941.1:p.(Ile1978Thr)	NC_000013.10:g.35923274T>C	VUS	1 lab	e91994f8a8
7:39736415 RALA A>G	7	39736415	39736415	A	G	RALA	c.455A>G	NM_005402.4	NP_005393.2:p.(Asn152Ser)	NC_000007.13:g.39736415A>G	(Likely) benign	1 lab	e91bcd262f
17:78064175 CCDC40 A>ACG	17	78064175	78064176	A	ACG	CCDC40	c.2832+492_2832+493insCG	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064175_78064176insCG	(Likely) benign	1 lab	e91d790b9e
12:121426697 HNF1A C>G	12	121426697	121426697	C	G	HNF1A	c.388C>G	NM_000545.8	NP_000536.6:p.(Gln130Glu)	NC_000012.11:g.121426697C>G	(Likely) pathogenic	1 lab	e91deb6e97
2:29296169 PCARE C>T	2	29296169	29296169	C	T	PCARE	c.959G>A	NM_001029883.3	NP_001025054.1:p.(Arg320His)	NC_000002.11:g.29296169C>T	(Likely) pathogenic	1 lab	e91f4302b1
13:32913819 BRCA2 TGAA>T	13	32913819	32913825	TGAA	T	BRCA2	c.5331_5333del	NM_000059.4	NP_000050.3:p.(Lys1777del)	NC_000013.10:g.32913823_32913825del	VUS	1 lab	e920d5c99b
7:98507886 TRRAP A>T	7	98507886	98507886	A	T	TRRAP	c.1558A>T	NM_001375524.1	NP_001362453.1:p.(Thr520Ser)	NC_000007.13:g.98507886A>T	(Likely) benign	1 lab	e921940356
3:126723772 PLXNA1 G>A	3	126723772	126723772	G	A	PLXNA1	c.1664G>A	NM_032242.4	NP_115618.3:p.(Arg555His)	NC_000003.11:g.126723772G>A	VUS	1 lab	e9236bf23f
7:57193784 ZNF479 A>G	7	57193784	57193784	A	G	ZNF479	c.203T>C	NM_001370129.2	NP_001357058.1:p.(Leu68Pro)	NC_000007.13:g.57193784A>G	(Likely) benign	1 lab	e924e42543
19:55086352 LILRA2 T>G	19	55086352	55086352	T	G	LILRA2	c.507T>G	NM_001130917.3	NP_001124389.2:p.(His169Gln)	NC_000019.9:g.55086352T>G	VUS	1 lab	e92540f57e
10:286400 ZMYND11 C>T	10	286400	286400	C	T	ZMYND11	c.753+349C>T	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.286400C>T	(Likely) benign	1 lab	e9268f3833
4:89978103 FAM13A C>CA	4	89978103	89978104	C	CA	FAM13A	c.12_13insT	NM_014883.4	NP_055698.2:p.(Ala5CysfsTer8)	NC_000004.11:g.89978103_89978104insA	VUS	1 lab	e9271f785c
5:14316619 TRIO C>T	5	14316619	14316619	C	T	TRIO	c.1501-3C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14316619C>T	(Likely) benign	1 lab	e929f10750
19:48657204 LIG1 G>A	19	48657204	48657204	G	A	LIG1	c.391C>T	NM_000234.3	NP_000225.1:p.(Arg131Trp)	NC_000019.9:g.48657204G>A	VUS	1 lab	e92a01f41f
1:46659963 POMGNT1 C>T	1	46659963	46659963	C	T	POMGNT1	c.862G>A	NM_017739.4	NP_060209.4:p.(Glu288Lys)	NC_000001.10:g.46659963C>T	VUS	1 lab	e92ab57a74
3:71161752 FOXP1 G>C	3	71161752	71161752	G	C	FOXP1	c.217C>G	NM_001349338.3	NP_001336267.1:p.(Gln73Glu)	NC_000003.11:g.71161752G>C	(Likely) benign	1 lab	e92ad5b135
21:44593843 CRYAA A>ACTC	21	44593843	44593845	A	ACTC	CRYAA				NC_000021.8:g.44593844_44593845insTCC	VUS	1 lab	e92b3d526c
18:10761061 PIEZO2 G>A	18	10761061	10761061	G	A	PIEZO2	c.3298C>T	NM_001378183.1	NP_001365112.1:p.(Arg1100Cys)	NC_000018.9:g.10761061G>A	VUS	1 lab	e92b7c0b8b
X:73961591 NEXMIF T>C	X	73961591	73961591	T	C	NEXMIF	c.2801A>G	NM_001008537.3	NP_001008537.1:p.(Asn934Ser)	NC_000023.10:g.73961591T>C	(Likely) benign	1 lab	e92c0c345b
9:40705105 SPATA31A3 G>T	9	40705105	40705105	G	T	SPATA31A3	c.2762G>T	NM_001083124.1	NP_001076593.1:p.(Arg921Met)	NC_000009.11:g.40705105G>T	VUS	1 lab	e92c18f40b
2:179455719 TTN G>A	2	179455719	179455719	G	A	TTN	c.60733C>T	NM_001267550.2	NP_001254479.2:p.(Arg20245Ter)	NC_000002.11:g.179455719G>A	(Likely) pathogenic	1 lab	e92c86b1b7
8:61754274 CHD7 T>C	8	61754274	61754274	T	C	CHD7				NC_000008.10:g.61754274T>C	(Likely) benign	1 lab	30095c3e2f
5:171305137 FBXW11 T>C	5	171305137	171305137	T	C	FBXW11	c.853-4A>G	NM_001378974.1	NP_001365903.1:p.?	NC_000005.9:g.171305137T>C	(Likely) benign	1 lab	e92d74df0e
17:62020306 SCN4A T>A	17	62020306	62020306	T	A	SCN4A	c.4168A>T	NM_000334.4	NP_000325.4:p.(Met1390Leu)	NC_000017.10:g.62020306T>A	VUS	1 lab	e92e985cbd
16:89882974 FANCA C>T	16	89882974	89882974	C	T	FANCA	c.50G>A	NM_000135.4	NP_000126.2:p.(Gly17Asp)	NC_000016.9:g.89882974C>T	(Likely) benign	1 lab	e92eb129bd
8:94827649 TMEM67 T>A	8	94827649	94827649	T	A	TMEM67	c.2881T>A	NM_153704.6	NP_714915.3:p.(Ser961Thr)	NC_000008.10:g.94827649T>A	VUS	1 lab	e92f2d729d
X:48759614 PQBP1 C>G	X	48759614	48759614	C	G	PQBP1	c.397C>G	NM_001032382.2	NP_001027554.1:p.(Arg133Gly)	NC_000023.10:g.48759614C>G	VUS	1 lab	e92fc6ab8c
X:117480536 WDR44 C>G	X	117480536	117480536	C	G	WDR44	c.70C>G	NM_019045.5	NP_061918.3:p.(Pro24Ala)	NC_000023.10:g.117480536C>G	VUS	1 lab	e930fbb3cc
18:46619644 DYM C>T	18	46619644	46619644	C	T	DYM	c.2025+4128G>A	NM_001353214.3	NP_001340143.1:p.?	NC_000018.9:g.46619644C>T	(Likely) benign	1 lab	e933118c74
1:153233936 LORICRIN G>T	1	153233936	153233936	G	T	LORICRIN	c.511G>T	NM_000427.3	NP_000418.2:p.(Gly171Trp)	NC_000001.10:g.153233936G>T	(Likely) benign	1 lab	e9336e5d68
4:88537294 DSPP T>TGACAGCAGTGACAGCAGTGAAAGCAGC	4	88537294	88537303	T	TGACAGCAGTGACAGCAGTGAAAGCAGC	DSPP	c.3488_3489insTGACAGCAGTGAAAGCAGCGACAGCAG	NM_014208.3	NP_055023.2:p.(Ser1166_Asp1167insGluSerSerAspSerSerAspSerSer)	NC_000004.11:g.88537302_88537303insTGACAGCAGTGAAAGCAGCGACAGCAG	(Likely) benign	1 lab	e9353a6047
21:27372388 APP G>A	21	27372388	27372388	G	A	APP	c.975C>T	NM_000484.4	NP_000475.1:p.(Gly325=)	NC_000021.8:g.27372388G>A	(Likely) benign	1 lab	e936ed6b49
9:94486974 ROR2 G>A	9	94486974	94486974	G	A	ROR2	c.1802C>T	NM_004560.4	NP_004551.2:p.(Ala601Val)	NC_000009.11:g.94486974G>A	VUS	1 lab	2d5bc3c4a9
12:8377367 FAM90A1 TG>T	12	8377367	8377369	TG	T	FAM90A1	c.61del	NM_018088.3	NP_060558.3:p.(Gln21ArgfsTer41)	NC_000012.11:g.8377369del	(Likely) benign	1 lab	e93b33155d
1:226027593 EPHX1 C>T	1	226027593	226027593	C	T	EPHX1	c.786C>T	NM_001136018.4	NP_001129490.1:p.(Leu262=)	NC_000001.10:g.226027593C>T	VUS	1 lab	e93c0a15bf
1:11854442 MTHFR C>T	1	11854442	11854442	C	T	MTHFR	c.1320G>A	NM_005957.4	NP_005948.3:p.(Ser440=)	NC_000001.10:g.11854442C>T	(Likely) pathogenic	1 lab	3009620ad8
16:30748499 SRCAP C>T	16	30748499	30748499	C	T	SRCAP	c.7138C>T	NM_006662.3	NP_006653.2:p.(Arg2380Trp)	NC_000016.9:g.30748499C>T	VUS	1 lab	e93d2b5045
2:109383729 RANBP2 C>T	2	109383729	109383729	C	T	RANBP2	c.6734C>T	NM_006267.5	NP_006258.3:p.(Ala2245Val)	NC_000002.11:g.109383729C>T	VUS	1 lab	e93d47ac4d
15:89398232 ACAN T>C	15	89398232	89398232	T	C	ACAN	c.2416T>C	NM_001369268.1	NP_001356197.1:p.(Phe806Leu)	NC_000015.9:g.89398232T>C	VUS	1 lab	e93fdb4195
5:90008161 ADGRV1 G>A	5	90008161	90008161	G	A	ADGRV1	c.9100G>A	NM_032119.4	NP_115495.3:p.(Asp3034Asn)	NC_000005.9:g.90008161G>A	VUS	1 lab	e940a1ffe4
15:68657116 ITGA11 C>T	15	68657116	68657116	C	T	ITGA11	c.286G>A	NM_001004439.2	NP_001004439.1:p.(Val96Met)	NC_000015.9:g.68657116C>T	VUS	1 lab	e941795721
5:45695990 HCN1 C>T	5	45695990	45695990	C	T	HCN1	c.206G>A	NM_021072.4	NP_066550.2:p.(Gly69Asp)	NC_000005.9:g.45695990C>T	(Likely) benign	1 lab	e94274a872
3:64635449 ADAMTS9 C>T	3	64635449	64635449	C	T	ADAMTS9	c.1469G>A	NM_182920.2	NP_891550.1:p.(Gly490Asp)	NC_000003.11:g.64635449C>T	VUS	1 lab	e94426e42d
13:32753109 FRY G>A	13	32753109	32753109	G	A	FRY	c.2810G>A	NM_023037.3	NP_075463.2:p.(Arg937Lys)	NC_000013.10:g.32753109G>A	VUS	1 lab	e944fda13c
16:730668 STUB1 G>A	16	730668	730668	G	A	STUB1	c.143G>A	NM_005861.4	NP_005852.2:p.(Cys48Tyr)	NC_000016.9:g.730668G>A	VUS	1 lab	e94535f620
12:49445646 KMT2D G>A	12	49445646	49445646	G	A	KMT2D	c.1820C>T	NM_003482.4	NP_003473.3:p.(Pro607Leu)	NC_000012.11:g.49445646G>A	(Likely) benign	1 lab	e945a8d6e0
16:3293327 MEFV G>C	16	3293327	3293327	G	C	MEFV	c.2160C>G	NM_000243.2	NP_000234.1:p.(Ile720Met)	NC_000016.9:g.3293327G>C	VUS	1 lab	3009f0c719
7:47847839 PKD1L1 G>A	7	47847839	47847839	G	A	PKD1L1	c.7827+6C>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47847839G>A	(Likely) benign	1 lab	e947444832
X:92964969 FAM133A A>G	X	92964969	92964969	A	G	FAM133A	c.551A>G	NM_001171109.2	NP_001164580.1:p.(Tyr184Cys)	NC_000023.10:g.92964969A>G	VUS	1 lab	e947af1fc1
3:58116635 FLNB G>C	3	58116635	58116635	G	C	FLNB	c.4390G>C	NM_001457.4	NP_001448.2:p.(Gly1464Arg)	NC_000003.11:g.58116635G>C	VUS	1 lab	e947bfe5d0
21:46925334 COL18A1 G>A	21	46925334	46925334	G	A	COL18A1	c.3076G>A	NM_001379500.1	NP_001366429.1:p.(Ala1026Thr)	NC_000021.8:g.46925334G>A	(Likely) benign	1 lab	e948375158
6:13283680 PHACTR1 G>GCTT	6	13283680	13283684	G	GCTT	PHACTR1	c.1538_1540dup	NM_030948.6	NP_112210.1:p.(Leu513dup)	NC_000006.11:g.13283682_13283684dup	(Likely) pathogenic	1 lab	e94848a768
4:1807062 FGFR3 C>T	4	1807062	1807062	C	T	FGFR3	c.1413-20C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807062C>T	(Likely) benign	1 lab	e94907f097
17:1639472 WDR81 G>A	17	1639472	1639472	G	A	WDR81	c.5465G>A	NM_001163809.2	NP_001157281.1:p.(Arg1822Gln)	NC_000017.10:g.1639472G>A	VUS	1 lab	e94962219d
2:152541487 NEB G>A	2	152541487	152541487	G	A	NEB	c.2640C>T	NM_001164508.2	NP_001157980.2:p.(Arg880=)	NC_000002.11:g.152541487G>A	(Likely) benign	1 lab	e94cd2bf90
13:101881855 NALCN CT>C	13	101881855	101881861	CT	C	NALCN	c.1514del	NM_052867.4	NP_443099.1:p.(Lys505SerfsTer13)	NC_000013.10:g.101881861del	(Likely) pathogenic	1 lab	e94cd57f33
17:76133397 TMC8 G>A	17	76133397	76133397	G	A	TMC8	c.1209G>A	NM_152468.4	NP_689681.2:p.(Lys403=)	NC_000017.10:g.76133397G>A	(Likely) benign	1 lab	300f802219
18:21113322 NPC1 T>C	18	21113322	21113322	T	C	NPC1	c.3751A>G	NM_000271.5	NP_000262.2:p.(Ile1251Val)	NC_000018.9:g.21113322T>C	(Likely) benign	1 lab	e94e038e5f
11:71155082 DHCR7 G>A	11	71155082	71155082	G	A	DHCR7	c.278C>T	NM_001360.3	NP_001351.2:p.(Thr93Met)	NC_000011.9:g.71155082G>A	(Likely) pathogenic	1 lab	2d5f67f5dc
22:51159654 SHANK3 GCA>G	22	51159654	51159658	GCA	G	SHANK3	c.3621_3622del	NM_001372044.2	NP_001358973.1:p.(His1207GlnfsTer163)	NC_000022.10:g.51159657_51159658del	(Likely) pathogenic	1 lab	e94f706a07
2:182542557 NEUROD1 C>T	2	182542557	182542557	C	T	NEUROD1	c.1031G>A	NM_002500.5	NP_002491.3:p.(Arg344Gln)	NC_000002.11:g.182542557C>T	VUS	1 lab	e9502c8017
9:35811445 SPAG8 C>T	9	35811445	35811445	C	T	SPAG8	c.598G>A	NM_001039592.2	NP_001034681.1:p.(Gly200Ser)	NC_000009.11:g.35811445C>T	(Likely) benign	1 lab	e951352ca9
3:122002546 CASR G>GT	3	122002546	122002547	G	GT	CASR	c.1746dup	NM_000388.4	NP_000379.3:p.(Asn583Ter)	NC_000003.11:g.122002547dup	(Likely) pathogenic	1 lab	e951d92a98
16:30992435 SETD1A G>GT	16	30992435	30992438	G	GT	SETD1A	c.4749dup	NM_014712.3	NP_055527.1:p.(Ala1584CysfsTer8)	NC_000016.9:g.30992438dup	VUS	1 lab	e953d9fbca
12:49431115 KMT2D G>A	12	49431115	49431115	G	A	KMT2D	c.10024C>T	NM_003482.4	NP_003473.3:p.(Arg3342Cys)	NC_000012.11:g.49431115G>A	(Likely) benign	1 lab	e95404d3c4
3:124951851 ZNF148 T>C	3	124951851	124951851	T	C	ZNF148	c.1719A>G	NM_021964.3	NP_068799.2:p.(Ile573Met)	NC_000003.11:g.124951851T>C	VUS	1 lab	e9578ac12f
9:130287417 NIBAN2 C>T	9	130287417	130287417	C	T	NIBAN2	c.341G>A	NM_022833.4	NP_073744.2:p.(Arg114Gln)	NC_000009.11:g.130287417C>T	(Likely) benign	1 lab	e957c40403
19:52719090 PPP2R1A A>T	19	52719090	52719090	A	T	PPP2R1A	c.866A>T	NM_014225.6	NP_055040.2:p.(Asn289Ile)	NC_000019.9:g.52719090A>T	(Likely) benign	1 lab	e957ebe37f
3:172163236 GHSR G>A	3	172163236	172163236	G	A	GHSR	c.816C>T	NM_198407.2	NP_940799.1:p.(Phe272=)	NC_000003.11:g.172163236G>A	(Likely) benign	1 lab	e95a309058
5:101627151 SLCO4C1 G>A	5	101627151	101627151	G	A	SLCO4C1	c.515C>T	NM_180991.5	NP_851322.3:p.(Pro172Leu)	NC_000005.9:g.101627151G>A	VUS	1 lab	e95bb11439
8:104337295 FZD6 G>A	8	104337295	104337295	G	A	FZD6	c.961G>A	NM_003506.4	NP_003497.2:p.(Glu321Lys)	NC_000008.10:g.104337295G>A	VUS	1 lab	e95bcd451f
16:4934517 PPL C>T	16	4934517	4934517	C	T	PPL	c.4139G>A	NM_002705.5	NP_002696.4:p.(Arg1380Gln)	NC_000016.9:g.4934517C>T	VUS	1 lab	e95cc6326f
2:71838421 DYSF A>G	2	71838421	71838421	A	G	DYSF	c.4004A>G	NM_001130987.2	NP_001124459.1:p.(Asn1335Ser)	NC_000002.11:g.71838421A>G	VUS	1 lab	e95d87706d
9:2086866 SMARCA2 G>A	9	2086866	2086866	G	A	SMARCA2	c.2564G>A	NM_003070.5	NP_003061.3:p.(Arg855Gln)	NC_000009.11:g.2086866G>A	(Likely) pathogenic	1 lab	e95e1b34ab
X:103267977 H2BW1 G>A	X	103267977	103267977	G	A	H2BW1	c.172C>T	NM_001002916.5	NP_001002916.4:p.(Arg58Cys)	NC_000023.10:g.103267977G>A	(Likely) benign	1 lab	e95e39bb27
2:196753650 DNAH7 T>G	2	196753650	196753650	T	G	DNAH7	c.5102A>C	NM_018897.3	NP_061720.2:p.(Glu1701Ala)	NC_000002.11:g.196753650T>G	VUS	1 lab	e95f385bfb
17:73484995 TMEM94 G>A	17	73484995	73484995	G	A	TMEM94	c.764+4G>A	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73484995G>A	(Likely) benign	1 lab	e95f4158cc
1:153660551 NPR1 G>A	1	153660551	153660551	G	A	NPR1	c.2271G>A	NM_000906.4	NP_000897.3:p.(Arg757=)	NC_000001.10:g.153660551G>A	VUS	1 lab	e95fa5c3e0
12:109972547 UBE3B G>A	12	109972547	109972547	G	A	UBE3B	c.3167G>A	NM_130466.4	NP_569733.2:p.(Arg1056His)	NC_000012.11:g.109972547G>A	VUS	1 lab	e960d96293
6:33143456 COL11A2 G>A	6	33143456	33143456	G	A	COL11A2	c.2271C>T	NM_080680.3	NP_542411.2:p.(Gly757=)	NC_000006.11:g.33143456G>A	(Likely) benign	1 lab	e9614ceda9
1:103427773 COL11A1 A>T	1	103427773	103427773	A	T	COL11A1	c.3073T>A	NM_001854.4	NP_001845.3:p.(Leu1025Ile)	NC_000001.10:g.103427773A>T	(Likely) benign	1 lab	e9616813c8
16:2158617 PKD1 TCA>T	16	2158617	2158619	TCA	T	PKD1	c.6549_6550del	NM_001009944.3	NP_001009944.3:p.(Glu2184ValfsTer77)	NC_000016.9:g.2158618_2158619del	(Likely) pathogenic	1 lab	e961d3012f
7:148508705 EZH2 T>TC	7	148508705	148508706	T	TC	EZH2	c.1947+11dup	NM_004456.4	NP_004447.2:p.?	NC_000007.13:g.148508706dup	(Likely) benign	1 lab	300fff8bba
20:44664422 SLC12A5 C>T	20	44664422	44664422	C	T	SLC12A5	c.286C>T	NM_020708.5	NP_065759.1:p.(Arg96Cys)	NC_000020.10:g.44664422C>T	VUS	1 lab	e961eadd7e
17:7127568 ACADVL C>T	17	7127568	7127568	C	T	ACADVL	c.1532+6C>T	NM_000018.4	NP_000009.1:p.?	NC_000017.10:g.7127568C>T	VUS	1 lab	e9623c4f24
1:151377411 POGZ G>C	1	151377411	151377411	G	C	POGZ	c.4100C>G	NM_015100.4	NP_055915.2:p.(Ser1367Cys)	NC_000001.10:g.151377411G>C	VUS	1 lab	e9656f2713
16:53682984 RPGRIP1L C>G	16	53682984	53682984	C	G	RPGRIP1L	c.2196G>C	NM_015272.5	NP_056087.2:p.(Trp732Cys)	NC_000016.9:g.53682984C>G	VUS	1 lab	e9668e063b
12:101573838 SLC5A8 G>T	12	101573838	101573838	G	T	SLC5A8	c.1202C>A	NM_145913.5	NP_666018.3:p.(Ala401Glu)	NC_000012.11:g.101573838G>T	VUS	1 lab	e96718a3a9
17:29684103 NF1 G>A	17	29684103	29684103	G	A	NF1	c.7864G>A	NM_001042492.3	NP_001035957.1:p.(Val2622Ile)	NC_000017.10:g.29684103G>A	VUS	1 lab	e968a64f49
19:4180820 SIRT6 C>T	19	4180820	4180820	C	T	SIRT6	c.153G>A	NM_016539.4	NP_057623.2:p.(Thr51=)	NC_000019.9:g.4180820C>T	VUS	1 lab	e9696ab852
3:49718631 APEH G>A	3	49718631	49718631	G	A	APEH	c.1397G>A	NM_001640.4	NP_001631.3:p.(Arg466Gln)	NC_000003.11:g.49718631G>A	VUS	1 lab	e96c1e6810
11:111963883 SDHD C>T	11	111963883	111963883	C	T	SDHD	c.315-1646C>T	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111963883C>T	(Likely) benign	1 lab	e96c9a9e00
X:48458093 WDR13 G>A	X	48458093	48458093	G	A	WDR13	c.511G>A	NM_001347217.2	NP_001334146.1:p.(Val171Met)	NC_000023.10:g.48458093G>A	VUS	1 lab	e9708cfb7a
7:127978306 RBM28 T>G	7	127978306	127978306	T	G	RBM28	c.539A>C	NM_018077.3	NP_060547.2:p.(Lys180Thr)	NC_000007.13:g.127978306T>G	VUS	1 lab	e9713143af
8:119122446 EXT1 C>G	8	119122446	119122446	C	G	EXT1	c.840G>C	NM_000127.3	NP_000118.2:p.(Arg280Ser)	NC_000008.10:g.119122446C>G	(Likely) pathogenic	1 lab	e971778e62
5:43174941 ZNF131 A>C	5	43174941	43174941	A	C	ZNF131	c.1578A>C	NM_001330707.2	NP_001317636.1:p.(Glu526Asp)	NC_000005.9:g.43174941A>C	VUS	1 lab	e972190b25
1:16258953 SPEN CCAAAT>C	1	16258953	16258962	CCAAAT	C	SPEN	c.6223_6227del	NM_015001.3	NP_055816.2:p.(Ser2075GlufsTer46)	NC_000001.10:g.16258958_16258962del	(Likely) pathogenic	1 lab	e9730da9f4
10:50857597 CHAT G>A	10	50857597	50857597	G	A	CHAT	c.1426G>A	NM_020549.5	NP_065574.4:p.(Glu476Lys)	NC_000010.10:g.50857597G>A	VUS	1 lab	e9732d12da
10:430496 DIP2C G>A	10	430496	430496	G	A	DIP2C	c.1746C>T	NM_014974.3	NP_055789.1:p.(Cys582=)	NC_000010.10:g.430496G>A	(Likely) benign	1 lab	e9744422b2
4:148787873 ARHGAP10 T>A	4	148787873	148787873	T	A	ARHGAP10	c.608T>A	NM_024605.4	NP_078881.3:p.(Phe203Tyr)	NC_000004.11:g.148787873T>A	VUS	1 lab	e9770c6b7c
1:45974496 MMACHC G>C	1	45974496	45974496	G	C	MMACHC	c.458G>C	NM_015506.3	NP_056321.2:p.(Arg153Pro)	NC_000001.10:g.45974496G>C	VUS	1 lab	e9771537f2
15:34520782 EMC4 C>G	15	34520782	34520782	C	G	EMC4	c.508C>G	NM_016454.4	NP_057538.1:p.(Pro170Ala)	NC_000015.9:g.34520782C>G	VUS	1 lab	e977e9451b
9:131398631 DYNC2I2 G>A	9	131398631	131398631	G	A	DYNC2I2	c.632C>T	NM_052844.4	NP_443076.2:p.(Ser211Leu)	NC_000009.11:g.131398631G>A	(Likely) benign	1 lab	e9787dd8c6
11:125885190 CDON C>T	11	125885190	125885190	C	T	CDON	c.1144G>A	NM_001378964.1	NP_001365893.1:p.(Ala382Thr)	NC_000011.9:g.125885190C>T	VUS	1 lab	e9794e4767
19:17057890 CPAMD8 T>A	19	17057890	17057890	T	A	CPAMD8	c.2656A>T	NM_015692.5	NP_056507.3:p.(Ile886Phe)	NC_000019.9:g.17057890T>A	VUS	1 lab	e97990286d
7:151945594 KMT2C T>C	7	151945594	151945594	T	C	KMT2C	c.1925A>G	NM_170606.3	NP_733751.2:p.(Gln642Arg)	NC_000007.13:g.151945594T>C	(Likely) benign	1 lab	e979e89d34
22:26063733 GRK3 C>T	22	26063733	26063733	C	T	GRK3	c.469C>T	NM_005160.4	NP_005151.2:p.(Leu157Phe)	NC_000022.10:g.26063733C>T	(Likely) benign	1 lab	e97b5dc1a4
7:100320290 EPO G>A	7	100320290	100320290	G	A	EPO	c.250G>A	NM_000799.4	NP_000790.2:p.(Gly84Arg)	NC_000007.13:g.100320290G>A	VUS	1 lab	e97b79d220
X:96171440 DIAPH2 G>T	X	96171440	96171440	G	T	DIAPH2	c.736G>T	NM_006729.5	NP_006720.1:p.(Gly246Ter)	NC_000023.10:g.96171440G>T	VUS	1 lab	e97ba12d1e
6:151726883 RMND1 C>G	6	151726883	151726883	C	G	RMND1	c.1289G>C	NM_017909.4	NP_060379.2:p.(Trp430Ser)	NC_000006.11:g.151726883C>G	VUS	1 lab	e97c3b9c43
10:104758738 CNNM2 T>A	10	104758738	104758738	T	A	CNNM2	c.1622-50726T>A	NM_017649.5	NP_060119.3:p.?	NC_000010.10:g.104758738T>A	(Likely) benign	1 lab	e97c59287b
6:31914251 CFB C>G	6	31914251	31914251	C	G	CFB	c.166C>G	NM_001710.6	NP_001701.2:p.(Gln56Glu)	NC_000006.11:g.31914251C>G	(Likely) benign	1 lab	e97c86daa0
3:69082718 TMF1 C>T	3	69082718	69082718	C	T	TMF1	c.2382G>A	NM_007114.3	NP_009045.2:p.(Lys794=)	NC_000003.11:g.69082718C>T	VUS	1 lab	e97d162488
20:36640223 TTI1 G>A	20	36640223	36640223	G	A	TTI1	c.1996C>T	NM_001303457.2	NP_001290386.1:p.(Leu666Phe)	NC_000020.10:g.36640223G>A	VUS	1 lab	e97d788f93
3:72873658 SHQ1 T>C	3	72873658	72873658	T	C	SHQ1	c.644A>G	NM_018130.3	NP_060600.2:p.(Tyr215Cys)	NC_000003.11:g.72873658T>C	VUS	1 lab	e980ca4c52
10:103454593 FBXW4 G>C	10	103454593	103454593	G	C	FBXW4	c.270C>G	NM_022039.4	NP_071322.2:p.(Ser90Arg)	NC_000010.10:g.103454593G>C	(Likely) benign	1 lab	e98157be40
11:47256423 DDB2 G>A	11	47256423	47256423	G	A	DDB2	c.818G>A	NM_000107.3	NP_000098.1:p.(Arg273His)	NC_000011.9:g.47256423G>A	(Likely) pathogenic	1 lab	e981969e4a
1:210948315 KCNH1 A>T	1	210948315	210948315	A	T	KCNH1	c.2112+375T>A	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210948315A>T	(Likely) benign	1 lab	e981bdc30a
6:145956531 EPM2A T>A	6	145956531	145956531	T	A	EPM2A	c.568A>T	NM_001018041.2	NP_001018051.1:p.(Met190Leu)	NC_000006.11:g.145956531T>A	(Likely) benign	1 lab	3015adc363
11:46918548 LRP4 G>A	11	46918548	46918548	G	A	LRP4	c.797-3C>T	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46918548G>A	VUS	1 lab	e98417d32e
X:128703236 OCRL T>TA	X	128703236	128703237	T	TA	OCRL	c.1467-4dup	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128703237dup	VUS	1 lab	e9843c3a2a
13:79191165 OBI1 T>C	13	79191165	79191165	T	C	OBI1	c.731A>G	NM_024546.4	NP_078822.3:p.(Asp244Gly)	NC_000013.10:g.79191165T>C	(Likely) benign	1 lab	e984c663bc
2:37336399 EIF2AK2 C>T	2	37336399	37336399	C	T	EIF2AK2	c.1417G>A	NM_001135651.3	NP_001129123.1:p.(Ala473Thr)	NC_000002.11:g.37336399C>T	VUS	1 lab	e9855dfe47
18:12377051 AFG3L2 G>C	18	12377051	12377051	G	C	AFG3L2	c.31C>G	NM_006796.3	NP_006787.2:p.(Arg11Gly)	NC_000018.9:g.12377051G>C	VUS	1 lab	e986e68770
1:221054647 HLX C>T	1	221054647	221054647	C	T	HLX	c.704C>T	NM_021958.4	NP_068777.1:p.(Ala235Val)	NC_000001.10:g.221054647C>T	VUS	1 lab	e98756f9df
3:46939666 PTH1R A>G	3	46939666	46939666	A	G	PTH1R	c.527A>G	NM_000316.3	NP_000307.1:p.(Asn176Ser)	NC_000003.11:g.46939666A>G	VUS	1 lab	2d5fc34490
11:68181383 LRP5 C>A	11	68181383	68181383	C	A	LRP5	c.2730C>A	NM_002335.4	NP_002326.2:p.(Asn910Lys)	NC_000011.9:g.68181383C>A	VUS	1 lab	e98c7e9b44
X:83128863 CYLC1 G>T	X	83128863	83128863	G	T	CYLC1	c.1147G>T	NM_021118.3	NP_066941.1:p.(Asp383Tyr)	NC_000023.10:g.83128863G>T	(Likely) benign	1 lab	e98cb6ec66
19:55086339 LILRA2 G>A	19	55086339	55086339	G	A	LILRA2	c.494G>A	NM_001130917.3	NP_001124389.2:p.(Arg165His)	NC_000019.9:g.55086339G>A	(Likely) benign	1 lab	e98f20a043
17:33507648 UNC45B C>T	17	33507648	33507648	C	T	UNC45B	c.2326C>T	NM_001267052.2	NP_001253981.1:p.(Arg776Trp)	NC_000017.10:g.33507648C>T	VUS	1 lab	e9901cba93
1:153906611 DENND4B T>C	1	153906611	153906611	T	C	DENND4B	c.2941A>G	NM_014856.3	NP_055671.2:p.(Met981Val)	NC_000001.10:g.153906611T>C	VUS	1 lab	e990b52046
17:27825327 TAOK1 T>C	17	27825327	27825327	T	C	TAOK1	c.1000-9T>C	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27825327T>C	(Likely) benign	1 lab	e990b59747
1:92646152 BTBD8 A>G	1	92646152	92646152	A	G	BTBD8	c.2912A>G	NM_001376131.1	NP_001363060.1:p.(His971Arg)	NC_000001.10:g.92646152A>G	(Likely) benign	1 lab	e990c8703b
2:152521935 NEB C>A	2	152521935	152521935	C	A	NEB	c.5150G>T	NM_001164508.2	NP_001157980.2:p.(Arg1717Leu)	NC_000002.11:g.152521935C>A	VUS	1 lab	e990e50441
15:72186120 MYO9A C>T	15	72186120	72186120	C	T	MYO9A	c.5043-1G>A	NM_006901.4	NP_008832.2:p.?	NC_000015.9:g.72186120C>T	VUS	1 lab	e9917a4ea4
1:156902708 LRRC71 G>T	1	156902708	156902708	G	T	LRRC71	c.1627G>T	NM_144702.3	NP_653303.2:p.(Asp543Tyr)	NC_000001.10:g.156902708G>T	VUS	1 lab	e993e9479d
21:47687052 MCM3AP C>T	21	47687052	47687052	C	T	MCM3AP	c.2633G>A	NM_003906.5	NP_003897.2:p.(Arg878His)	NC_000021.8:g.47687052C>T	(Likely) pathogenic	1 lab	e995098c5a
22:50964596 TYMP C>T	22	50964596	50964596	C	T	TYMP	c.1160-26G>A	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50964596C>T	(Likely) benign	1 lab	e996360b5b
9:130422389 STXBP1 T>C	9	130422389	130422389	T	C	STXBP1	c.325+2T>C	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130422389T>C	(Likely) pathogenic	1 lab	e9991fc132
22:51153450 SHANK3 G>A	22	51153450	51153450	G	A	SHANK3	c.2465G>A	NM_001372044.2	NP_001358973.1:p.(Arg822Gln)	NC_000022.10:g.51153450G>A	VUS	1 lab	e999f29672
7:70229907 AUTS2 C>T	7	70229907	70229907	C	T	AUTS2	c.1384C>T	NM_015570.4	NP_056385.1:p.(Pro462Ser)	NC_000007.13:g.70229907C>T	VUS	1 lab	2d6972fea4
3:20019886 RAB5A A>G	3	20019886	20019886	A	G	RAB5A	c.523A>G	NM_004162.5	NP_004153.2:p.(Met175Val)	NC_000003.11:g.20019886A>G	VUS	1 lab	e99c974eab
11:65384488 PCNX3 TG>T	11	65384488	65384492	TG	T	PCNX3	c.341+10del	NM_032223.4	NP_115599.2:p.?	NC_000011.9:g.65384492del	(Likely) benign	1 lab	e99e1a1937
2:240154378 HDAC4 TC>T	2	240154378	240154382	TC	T	HDAC4	c.94+3910del	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240154382del	(Likely) benign	1 lab	e99ece96d2
3:47162265 SETD2 C>G	3	47162265	47162265	C	G	SETD2	c.3861G>C	NM_014159.7	NP_054878.5:p.(Gln1287His)	NC_000003.11:g.47162265C>G	VUS	1 lab	e99f12678a
4:1803613 FGFR3 C>T	4	1803613	1803613	C	T	FGFR3	c.791C>T	NM_000142.5	NP_000133.1:p.(Thr264Met)	NC_000004.11:g.1803613C>T	(Likely) pathogenic	1 lab	e99f6205a6
17:42987962 GFAP A>G	17	42987962	42987962	A	G	GFAP	c.1171+21T>C	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987962A>G	(Likely) benign	1 lab	e9a0c8482d
2:179429830 TTN ACAATGTAGTTGCTTATTTGGCAGC>A	2	179429830	179429856	ACAATGTAGTTGCTTATTTGGCAGC	A	TTN	c.81005_81028del	NM_001267550.2	NP_001254479.2:p.(Gly27002_Ile27009del)	NC_000002.11:g.179429833_179429856del	(Likely) benign	1 lab	e9a0d999f9
11:3848859 RHOG G>A	11	3848859	3848859	G	A	RHOG	c.510C>T	NM_001665.4	NP_001656.2:p.(Ala170=)	NC_000011.9:g.3848859G>A	(Likely) benign	1 lab	301a3b06fe
9:119460500 ASTN2 T>TA	9	119460500	119460501	T	TA	ASTN2	c.2806+27549_2806+27550insT	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460500_119460501insA	VUS	1 lab	e9a2f2c402
15:91456839 MAN2A2 C>G	15	91456839	91456839	C	G	MAN2A2	c.2719-5C>G	NM_006122.4	NP_006113.2:p.?	NC_000015.9:g.91456839C>G	(Likely) benign	1 lab	e9a4b912c8
17:10426982 MYH2 G>C	17	10426982	10426982	G	C	MYH2	c.5303C>G	NM_017534.6	NP_060004.3:p.(Ala1768Gly)	NC_000017.10:g.10426982G>C	VUS	1 lab	e9a63db51a
X:69522251 KIF4A A>G	X	69522251	69522251	A	G	KIF4A	c.778+3A>G	NM_012310.5	NP_036442.3:p.?	NC_000023.10:g.69522251A>G	VUS	1 lab	e9a66ed989
4:186456578 PDLIM3 G>A	4	186456578	186456578	G	A	PDLIM3	c.11C>T	NM_014476.6	NP_055291.2:p.(Thr4Met)	NC_000004.11:g.186456578G>A	VUS	1 lab	301e260199
22:20713188 MISSING AC>A	22	20713188	20713189	AC	A	MISSING				NC_000022.10:g.20713189del	(Likely) benign	1 lab	e9a6e8abdc
6:7575740 DSP G>A	6	7575740	7575740	G	A	DSP	c.2630+19G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575740G>A	(Likely) benign	1 lab	2d6a13ad1c
X:132958016 GPC3 A>T	X	132958016	132958016	A	T	GPC3	c.338-69813T>A	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132958016A>T	(Likely) benign	1 lab	e9a7cdb6cc
11:108173756 ATM A>G	11	108173756	108173756	A	G	ATM	c.5496A>G	NM_000051.4	NP_000042.3:p.(Glu1832=)	NC_000011.9:g.108173756A>G	(Likely) benign	1 lab	e9a7e2ca42
5:37036437 NIPBL GTATATATATATGTATATATATA>G	5	37036437	37036479	GTATATATATATGTATATATATA	G	NIPBL	c.5863-23_5863-2del	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37036458_37036479del	(Likely) benign	1 lab	e9ab7191e6
16:31138664 KAT8 G>A	16	31138664	31138664	G	A	KAT8	c.671G>A	NM_032188.3	NP_115564.2:p.(Arg224His)	NC_000016.9:g.31138664G>A	VUS	1 lab	e9ab8a744e
12:120128003 CIT G>A	12	120128003	120128003	G	A	CIT	c.6139C>T	NM_001206999.2	NP_001193928.1:p.(Arg2047Trp)	NC_000012.11:g.120128003G>A	VUS	1 lab	e9ac4205d1
2:39250202 SOS1 T>C	2	39250202	39250202	T	C	SOS1	c.1367A>G	NM_005633.4	NP_005624.2:p.(Lys456Arg)	NC_000002.11:g.39250202T>C	VUS	1 lab	2d6dbf18cd
13:110839486 COL4A1 G>A	13	110839486	110839486	G	A	COL4A1	c.1727C>T	NM_001845.6	NP_001836.3:p.(Pro576Leu)	NC_000013.10:g.110839486G>A	VUS	1 lab	e9acf77119
22:18644702 USP18 T>C	22	18644702	18644702	T	C	USP18	c.400T>C	NM_017414.4	NP_059110.2:p.(Leu134=)	NC_000022.10:g.18644702T>C	(Likely) benign	1 lab	e9ada2380d
20:43036068 HNF4A G>A	20	43036068	43036068	G	A	HNF4A	c.338G>A	NM_000457.5	NP_000448.3:p.(Arg113His)	NC_000020.10:g.43036068G>A	(Likely) pathogenic	1 lab	e9aeb18a3a
19:58189689 ZSCAN4 C>A	19	58189689	58189689	C	A	ZSCAN4	c.718C>A	NM_152677.4	NP_689890.1:p.(Pro240Thr)	NC_000019.9:g.58189689C>A	VUS	1 lab	e9afcdf251
18:29645930 RNF125 A>T	18	29645930	29645930	A	T	RNF125	c.570A>T	NM_017831.4	NP_060301.2:p.(Arg190Ser)	NC_000018.9:g.29645930A>T	(Likely) benign	1 lab	e9afd639a6
12:53729484 SP7 CG>C	12	53729484	53729490	CG	C	SP7	c.-47-8del	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53729490del	(Likely) benign	1 lab	e9b06e06e2
12:4488703 FGF23 C>T	12	4488703	4488703	C	T	FGF23	c.46G>A	NM_020638.3	NP_065689.1:p.(Val16Ile)	NC_000012.11:g.4488703C>T	VUS	1 lab	e9b0b0d563
16:1574665 IFT140 AG>A	16	1574665	1574667	AG	A	IFT140	c.3028del	NM_014714.4	NP_055529.2:p.(Leu1010TrpfsTer47)	NC_000016.9:g.1574667del	(Likely) pathogenic	1 lab	e9b20ab0c8
22:51160783 SHANK3 AC>A	22	51160783	51160784	AC	A	SHANK3	c.4748del	NM_001372044.2	NP_001358973.1:p.(Thr1583SerfsTer36)	NC_000022.10:g.51160784del	VUS	1 lab	e9b32bef75
17:76502817 DNAH17 G>A	17	76502817	76502817	G	A	DNAH17	c.4788C>T	NM_173628.4	NP_775899.3:p.(Gly1596=)	NC_000017.10:g.76502817G>A	VUS	1 lab	e9b38812f0
4:996624 IDUA G>A	4	996624	996624	G	A	IDUA	c.1294G>A	NM_000203.5	NP_000194.2:p.(Asp432Asn)	NC_000004.11:g.996624G>A	VUS	1 lab	e9b3938d37
11:4661858 OR51D1 C>G	11	4661858	4661858	C	G	OR51D1	c.838C>G	NM_001004751.3	NP_001004751.1:p.(Pro280Ala)	NC_000011.9:g.4661858C>G	VUS	1 lab	e9b3d8c127
6:33408542 SYNGAP1 G>A	6	33408542	33408542	G	A	SYNGAP1	c.1713G>A	NM_006772.3	NP_006763.2:p.(Ser571=)	NC_000006.11:g.33408542G>A	(Likely) benign	1 lab	2d6edda1b3
10:123244999 FGFR2 G>A	10	123244999	123244999	G	A	FGFR2	c.2105C>T	NM_000141.5	NP_000132.3:p.(Ser702Leu)	NC_000010.10:g.123244999G>A	VUS	1 lab	e9b6014e39
6:129759783 LAMA2 A>T	6	129759783	129759783	A	T	LAMA2	c.5969-8A>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129759783A>T	(Likely) benign	1 lab	e9b6e1b0dd
11:65480912 KAT5 G>C	11	65480912	65480912	G	C	KAT5	c.478G>C	NM_182710.3	NP_874369.1:p.(Gly160Arg)	NC_000011.9:g.65480912G>C	(Likely) benign	1 lab	e9b6f4b208
22:19318622 HIRA T>C	22	19318622	19318622	T	C	HIRA	c.*341A>G	NM_003325.4	NP_003316.3:p.?	NC_000022.10:g.19318622T>C	(Likely) benign	1 lab	d99985d69c
20:43042386 HNF4A CA>C	20	43042386	43042387	CA	C	HNF4A	c.439del	NM_000457.5	NP_000448.3:p.(Ser147AlafsTer45)	NC_000020.10:g.43042387del	(Likely) pathogenic	1 lab	e9b75117e6
2:63664596 WDPCP C>T	2	63664596	63664596	C	T	WDPCP	c.592G>A	NM_015910.7	NP_056994.3:p.(Val198Ile)	NC_000002.11:g.63664596C>T	(Likely) benign	1 lab	e9b7545d01
14:103434266 CDC42BPB A>T	14	103434266	103434266	A	T	CDC42BPB	c.2346+324T>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103434266A>T	(Likely) benign	1 lab	e9b7ba09de
X:111195611 TRPC5 G>A	X	111195611	111195611	G	A	TRPC5	c.38C>T	NM_012471.3	NP_036603.1:p.(Pro13Leu)	NC_000023.10:g.111195611G>A	VUS	1 lab	e9b97fc1b5
2:219249999 SLC11A1 G>C	2	219249999	219249999	G	C	SLC11A1	c.393+10G>C	NM_000578.4	NP_000569.3:p.?	NC_000002.11:g.219249999G>C	(Likely) benign	1 lab	e9bb2bdad0
1:185963994 HMCN1 G>T	1	185963994	185963994	G	T	HMCN1	c.3553G>T	NM_031935.3	NP_114141.2:p.(Gly1185Cys)	NC_000001.10:g.185963994G>T	VUS	1 lab	e9bb526096
3:71015129 FOXP1 C>T	3	71015129	71015129	C	T	FOXP1	c.1801G>A	NM_001349338.3	NP_001336267.1:p.(Ala601Thr)	NC_000003.11:g.71015129C>T	(Likely) benign	1 lab	e9bbb3e412
3:49570610 DAG1 C>T	3	49570610	49570610	C	T	DAG1	c.2666C>T	NM_004393.6	NP_004384.5:p.(Pro889Leu)	NC_000003.11:g.49570610C>T	VUS	1 lab	e9bbe838cc
12:49447025 KMT2D T>C	12	49447025	49447025	T	C	KMT2D	c.919A>G	NM_003482.4	NP_003473.3:p.(Met307Val)	NC_000012.11:g.49447025T>C	VUS	1 lab	e9bc9cc688
6:43252933 TTBK1 C>G	6	43252933	43252933	C	G	TTBK1	c.3785C>G	NM_032538.3	NP_115927.1:p.(Pro1262Arg)	NC_000006.11:g.43252933C>G	VUS	1 lab	e9bcb32b5e
15:45702643 AFG2B G>A	15	45702643	45702643	G	A	AFG2B	c.1349G>A	NM_024063.3	NP_076968.2:p.(Arg450Gln)	NC_000015.9:g.45702643G>A	VUS	1 lab	e9bec0df21
15:59384796 RNF111 T>C	15	59384796	59384796	T	C	RNF111	c.2800T>C	NM_017610.8	NP_060080.6:p.(Cys934Arg)	NC_000015.9:g.59384796T>C	VUS	1 lab	e9bf37d2e7
1:186007990 HMCN1 C>T	1	186007990	186007990	C	T	HMCN1	c.5881C>T	NM_031935.3	NP_114141.2:p.(Leu1961Phe)	NC_000001.10:g.186007990C>T	VUS	1 lab	e9c49cebf9
3:186954082 MASP1 C>T	3	186954082	186954082	C	T	MASP1	c.1577G>A	NM_139125.4	NP_624302.1:p.(Arg526Gln)	NC_000003.11:g.186954082C>T	VUS	1 lab	e9c4d52bac
19:47259977 FKRP A>C	19	47259977	47259977	A	C	FKRP	c.1270A>C	NM_024301.5	NP_077277.1:p.(Asn424His)	NC_000019.9:g.47259977A>C	VUS	1 lab	e9c663b48f
17:42331864 SLC4A1 G>A	17	42331864	42331864	G	A	SLC4A1	c.2057C>T	NM_000342.4	NP_000333.1:p.(Thr686Met)	NC_000017.10:g.42331864G>A	VUS	1 lab	e9c664fec4
5:14498696 TRIO T>C	5	14498696	14498696	T	C	TRIO	c.8279T>C	NM_007118.4	NP_009049.2:p.(Ile2760Thr)	NC_000005.9:g.14498696T>C	(Likely) benign	1 lab	e9c7276129
X:110654052 DCX T>C	X	110654052	110654052	T	C	DCX	c.-22-404A>G	NM_001195553.2	NP_001182482.1:p.?	NC_000023.10:g.110654052T>C	(Likely) benign	1 lab	e9c774423b
19:1108842 SBNO2 G>C	19	1108842	1108842	G	C	SBNO2	c.3552C>G	NM_014963.3	NP_055778.2:p.(Asp1184Glu)	NC_000019.9:g.1108842G>C	VUS	1 lab	e9c7bd82c8
2:227896724 COL4A4 T>C	2	227896724	227896724	T	C	COL4A4	c.3754A>G	NM_000092.5	NP_000083.3:p.(Lys1252Glu)	NC_000002.11:g.227896724T>C	(Likely) benign	1 lab	e9c929a1b8
2:121742143 GLI2 C>T	2	121742143	121742143	C	T	GLI2	c.1729C>T	NM_001374353.1	NP_001361282.1:p.(His577Tyr)	NC_000002.11:g.121742143C>T	VUS	1 lab	e9c9a0c59f
16:89833583 FANCA A>G	16	89833583	89833583	A	G	FANCA	c.2567T>C	NM_000135.4	NP_000126.2:p.(Leu856Ser)	NC_000016.9:g.89833583A>G	(Likely) benign	1 lab	e9ca5534c3
19:8657759 ADAMTS10 G>A	19	8657759	8657759	G	A	ADAMTS10	c.1480-5C>T	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8657759G>A	(Likely) benign	1 lab	e9cb012826
1:153921858 CRTC2 G>A	1	153921858	153921858	G	A	CRTC2	c.1407C>T	NM_181715.3	NP_859066.1:p.(Gly469=)	NC_000001.10:g.153921858G>A	VUS	1 lab	e9cc167891
15:89876631 POLGARF G>A	15	89876631	89876631	G	A	POLGARF	c.410C>T	NM_001430120.1	NP_001417049.1:p.(Ala137Val)	NC_000015.9:g.89876631G>A	VUS	1 lab	e9ccba2ccc
15:82574862 SAXO2 G>A	15	82574862	82574862	G	A	SAXO2	c.836G>A	NM_001348699.2	NP_001335628.1:p.(Arg279His)	NC_000015.9:g.82574862G>A	VUS	1 lab	e9ce0366c6
11:114121252 ZBTB16 C>T	11	114121252	114121252	C	T	ZBTB16	c.1997C>T	NM_006006.6	NP_005997.2:p.(Thr666Met)	NC_000011.9:g.114121252C>T	VUS	1 lab	e9cf77b6ac
20:61471947 COL9A3 G>A	20	61471947	61471947	G	A	COL9A3	c.1918G>A	NM_001853.4	NP_001844.3:p.(Glu640Lys)	NC_000020.10:g.61471947G>A	VUS	1 lab	e9d01983be
14:77709302 TMEM63C CCTTCCTCTT>C	14	77709302	77709324	CCTTCCTCTT	C	TMEM63C	c.1258_1266del	NM_020431.4	NP_065164.2:p.(Leu420_Phe422del)	NC_000014.8:g.77709316_77709324del	VUS	1 lab	e9d248bf89
17:73748322 ITGB4 C>A	17	73748322	73748322	C	A	ITGB4	c.3861C>A	NM_000213.5	NP_000204.3:p.(Asn1287Lys)	NC_000017.10:g.73748322C>A	VUS	1 lab	e9d32cc13e
19:38993216 RYR1 A>T	19	38993216	38993216	A	T	RYR1	c.7684A>T	NM_000540.3	NP_000531.2:p.(Ile2562Phe)	NC_000019.9:g.38993216A>T	VUS	1 lab	e9d550266e
16:1997309 RPL3L C>T	16	1997309	1997309	C	T	RPL3L	c.574G>A	NM_005061.3	NP_005052.1:p.(Glu192Lys)	NC_000016.9:g.1997309C>T	(Likely) benign	1 lab	e9d646e6f1
17:61995727 GH1 G>T	17	61995727	61995727	G	T	GH1	c.150C>A	NM_000515.5	NP_000506.2:p.(Ala50=)	NC_000017.10:g.61995727G>T	(Likely) benign	1 lab	e9d65b2fd0
19:17737565 UNC13A T>C	19	17737565	17737565	T	C	UNC13A	c.3950A>G	NM_001080421.3	NP_001073890.2:p.(Lys1317Arg)	NC_000019.9:g.17737565T>C	(Likely) benign	1 lab	e9d8078e9c
19:58090063 ZNF416 C>T	19	58090063	58090063	C	T	ZNF416	c.10G>A	NM_017879.3	NP_060349.1:p.(Ala4Thr)	NC_000019.9:g.58090063C>T	VUS	1 lab	e9d908a27c
X:47466530 SYN1 C>T	X	47466530	47466530	C	T	SYN1	c.435+10G>A	NM_133499.2	NP_598006.1:p.?	NC_000023.10:g.47466530C>T	(Likely) benign	1 lab	302720d194
16:87637938 JPH3 A>G	16	87637938	87637938	A	G	JPH3	c.382+804A>G	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87637938A>G	VUS	1 lab	e9daecbbe7
2:48033651 MSH6 A>AAATTCATTAAGGGAGCTTGT	2	48033651	48033671	A	AAATTCATTAAGGGAGCTTGT	MSH6	c.3863_3882dup	NM_000179.3	NP_000170.1:p.(Pro1295AsnfsTer39)	NC_000002.11:g.48033652_48033671dup	(Likely) pathogenic	1 lab	e9dc35f41b
5:174156531 MSX2 C>T	5	174156531	174156531	C	T	MSX2	c.749C>T	NM_002449.5	NP_002440.2:p.(Pro250Leu)	NC_000005.9:g.174156531C>T	VUS	1 lab	e9dccb2ec2
9:101216462 GABBR2 C>T	9	101216462	101216462	C	T	GABBR2	c.1037G>A	NM_005458.8	NP_005449.5:p.(Arg346Gln)	NC_000009.11:g.101216462C>T	VUS	1 lab	2d700acd8f
1:11827145 C1orf167 A>G	1	11827145	11827145	A	G	C1orf167	c.1299+3A>G	NM_001010881.2	NP_001010881.1:p.?	NC_000001.10:g.11827145A>G	VUS	1 lab	e9de9c0277
15:33954431 RYR3 C>A	15	33954431	33954431	C	A	RYR3	c.4700C>A	NM_001036.6	NP_001027.3:p.(Ala1567Glu)	NC_000015.9:g.33954431C>A	VUS	1 lab	e9dfddd4b8
4:5633678 EVC2 G>T	4	5633678	5633678	G	T	EVC2	c.1552C>A	NM_147127.5	NP_667338.3:p.(Gln518Lys)	NC_000004.11:g.5633678G>T	VUS	1 lab	e9e1dbe4e0
12:10599238 KLRC1 T>C	12	10599238	10599238	T	C	KLRC1	c.614A>G	NM_002259.5	NP_002250.2:p.(Glu205Gly)	NC_000012.11:g.10599238T>C	(Likely) benign	1 lab	e9e2d2c4b7
6:142723971 ADGRG6 A>C	6	142723971	142723971	A	C	ADGRG6	c.1955+4A>C	NM_198569.3	NP_940971.2:p.?	NC_000006.11:g.142723971A>C	(Likely) benign	1 lab	e9e60fbb58
5:176025334 GPRIN1 C>T	5	176025334	176025334	C	T	GPRIN1	c.1502G>A	NM_052899.3	NP_443131.2:p.(Gly501Glu)	NC_000005.9:g.176025334C>T	(Likely) benign	1 lab	e9e79caeec
5:180053190 FLT4 G>C	5	180053190	180053190	G	C	FLT4	c.1179C>G	NM_182925.5	NP_891555.2:p.(Ser393Arg)	NC_000005.9:g.180053190G>C	VUS	1 lab	e9e879481f
7:152055989 KMT2C A>G	7	152055989	152055989	A	G	KMT2C	c.162-229T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152055989A>G	(Likely) benign	1 lab	e9ea1992e6
16:67264703 FHOD1 G>A	16	67264703	67264703	G	A	FHOD1	c.2668-9C>T	NM_013241.3	NP_037373.2:p.?	NC_000016.9:g.67264703G>A	(Likely) benign	1 lab	e9ea9020d6
1:27124283 PIGV C>T	1	27124283	27124283	C	T	PIGV	c.1430C>T	NM_017837.4	NP_060307.2:p.(Thr477Ile)	NC_000001.10:g.27124283C>T	(Likely) benign	1 lab	e9eabe0970
3:42243957 TRAK1 C>T	3	42243957	42243957	C	T	TRAK1	c.1457C>T	NM_001042646.3	NP_001036111.1:p.(Thr486Met)	NC_000003.11:g.42243957C>T	VUS	1 lab	e9eabe523f
6:33153564 COL11A2 G>A	6	33153564	33153564	G	A	COL11A2	c.799-9C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33153564G>A	(Likely) benign	1 lab	e9ebc7b8fa
2:27676546 IFT172 C>T	2	27676546	27676546	C	T	IFT172	c.3772G>A	NM_015662.3	NP_056477.1:p.(Glu1258Lys)	NC_000002.11:g.27676546C>T	VUS	1 lab	e9ebd25db0
1:152280325 FLG A>G	1	152280325	152280325	A	G	FLG	c.7037T>C	NM_002016.2	NP_002007.1:p.(Ile2346Thr)	NC_000001.10:g.152280325A>G	(Likely) benign	1 lab	e9ec017b74
19:33222748 TDRD12 CA>C	19	33222748	33222750	CA	C	TDRD12	c.144del	NM_001366102.1	NP_001353031.1:p.(Asp49IlefsTer2)	NC_000019.9:g.33222750del	VUS	1 lab	e9ec134a1b
3:50339516 HYAL1 T>C	3	50339516	50339516	T	C	HYAL1	c.872A>G	NM_033159.4	NP_149349.2:p.(Tyr291Cys)	NC_000003.11:g.50339516T>C	VUS	1 lab	ea3fdeb4af
1:16257172 SPEN TAAAG>T	1	16257172	16257179	TAAAG	T	SPEN	c.4441_4444del	NM_015001.3	NP_055816.2:p.(Glu1481ArgfsTer14)	NC_000001.10:g.16257176_16257179del	(Likely) pathogenic	1 lab	e9ededbb00
1:45272455 DYNLT4 C>T	1	45272455	45272455	C	T	DYNLT4	c.-12+1G>A	NM_001377534.1	NP_001364463.1:p.?	NC_000001.10:g.45272455C>T	VUS	1 lab	ea38b3b29c
15:63978649 HERC1 A>G	15	63978649	63978649	A	G	HERC1	c.6134T>C	NM_003922.4	NP_003913.3:p.(Val2045Ala)	NC_000015.9:g.63978649A>G	VUS	1 lab	e9ee27f478
16:56437003 AMFR C>T	16	56437003	56437003	C	T	AMFR	c.868G>A	NM_001144.6	NP_001135.3:p.(Ala290Thr)	NC_000016.9:g.56437003C>T	VUS	1 lab	e9ee655cd5
15:66210344 MEGF11 G>T	15	66210344	66210344	G	T	MEGF11	c.2046C>A	NM_001385028.1	NP_001371957.1:p.(Cys682Ter)	NC_000015.9:g.66210344G>T	VUS	1 lab	e9ef699a8d
7:129948221 CPA4 G>GA	7	129948221	129948223	G	GA	CPA4	c.779dup	NM_016352.4	NP_057436.2:p.(Asn260LysfsTer3)	NC_000007.13:g.129948223dup	VUS	1 lab	e9f032efcc
19:7963948 LRRC8E G>A	19	7963948	7963948	G	A	LRRC8E	c.541G>A	NM_025061.6	NP_079337.2:p.(Glu181Lys)	NC_000019.9:g.7963948G>A	VUS	1 lab	e9f083b291
4:1808929 FGFR3 C>T	4	1808929	1808929	C	T	FGFR3	c.2361C>T	NM_000142.5	NP_000133.1:p.(Ser787=)	NC_000004.11:g.1808929C>T	(Likely) benign	1 lab	e9f3213a79
15:22963816 CYFIP1 A>G	15	22963816	22963816	A	G	CYFIP1	c.2330A>G	NM_014608.6	NP_055423.1:p.(Tyr777Cys)	NC_000015.9:g.22963816A>G	(Likely) benign	1 lab	e9f35a1bc7
X:150840710 PASD1 A>ATCCC	X	150840710	150840711	A	ATCCC	PASD1	c.1493_1494insTCCC	NM_173493.3	NP_775764.2:p.(Glu498AspfsTer79)	NC_000023.10:g.150840710_150840711insTCCC	VUS	1 lab	e9f50e00fd
9:21971221 CDKN2A C>T	9	21971221	21971221	C	T	CDKN2A	c.151-14G>A	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21971221C>T	VUS	1 lab	e9f512d3a0
22:26286738 MYO18B T>A	22	26286738	26286738	T	A	MYO18B	c.4330T>A	NM_032608.7	NP_115997.5:p.(Ser1444Thr)	NC_000022.10:g.26286738T>A	(Likely) benign	1 lab	e9f607dd8b
9:135946362 CEL C>T	9	135946362	135946362	C	T	CEL	c.1485-12C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135946362C>T	(Likely) benign	1 lab	e9f70f780e
14:23874838 MYH6 A>G	14	23874838	23874838	A	G	MYH6	c.343T>C	NM_002471.4	NP_002462.2:p.(Tyr115His)	NC_000014.8:g.23874838A>G	VUS	1 lab	2d706c4e3a
17:19246763 B9D1 G>A	17	19246763	19246763	G	A	B9D1	c.484C>T	NM_015681.5	NP_056496.1:p.(Arg162Cys)	NC_000017.10:g.19246763G>A	VUS	1 lab	e9f79b37fd
11:4904082 OR51T1 A>G	11	4904082	4904082	A	G	OR51T1	c.953A>G	NM_001004759.3	NP_001004759.2:p.(Asn318Ser)	NC_000011.9:g.4904082A>G	(Likely) benign	1 lab	e9f81a1a16
1:179520372 NPHS2 A>G	1	179520372	179520372	A	G	NPHS2	c.1088T>C	NM_014625.4	NP_055440.1:p.(Phe363Ser)	NC_000001.10:g.179520372A>G	VUS	1 lab	e9f8972920
2:233990467 INPP5D T>C	2	233990467	233990467	T	C	INPP5D	c.362T>C	NM_001017915.3	NP_001017915.1:p.(Val121Ala)	NC_000002.11:g.233990467T>C	VUS	1 lab	e9f898fe34
7:22357597 RAPGEF5 G>A	7	22357597	22357597	G	A	RAPGEF5	c.282+9C>T	NM_012294.5	NP_036426.4:p.?	NC_000007.13:g.22357597G>A	(Likely) benign	1 lab	e9fa22cca2
11:72004451 CLPB C>T	11	72004451	72004451	C	T	CLPB	c.2084G>A	NM_030813.6	NP_110440.1:p.(Arg695Gln)	NC_000011.9:g.72004451C>T	VUS	1 lab	2d70dc4ddd
1:100154502 PALMD A>G	1	100154502	100154502	A	G	PALMD	c.686A>G	NM_017734.5	NP_060204.1:p.(Asn229Ser)	NC_000001.10:g.100154502A>G	(Likely) benign	1 lab	e9fc705ab5
7:122114500 CADPS2 A>C	7	122114500	122114500	A	C	CADPS2	c.1933T>G	NM_017954.11	NP_060424.9:p.(Phe645Val)	NC_000007.13:g.122114500A>C	(Likely) benign	1 lab	e9fc95e606
3:181430670 SOX2 G>A	3	181430670	181430670	G	A	SOX2	c.522G>A	NM_003106.4	NP_003097.1:p.(Met174Ile)	NC_000003.11:g.181430670G>A	VUS	1 lab	e9fdae1162
1:46543221 PIK3R3 T>C	1	46543221	46543221	T	C	PIK3R3	c.280A>G	NM_003629.4	NP_003620.3:p.(Thr94Ala)	NC_000001.10:g.46543221T>C	VUS	1 lab	e9fe02176d
15:100516394 ADAMTS17 G>A	15	100516394	100516394	G	A	ADAMTS17	c.2983C>T	NM_139057.4	NP_620688.2:p.(Arg995Trp)	NC_000015.9:g.100516394G>A	(Likely) pathogenic	1 lab	e9feadcf30
9:88916455 TUT7 T>C	9	88916455	88916455	T	C	TUT7	c.4156A>G	NM_024617.4	NP_078893.2:p.(Lys1386Glu)	NC_000009.11:g.88916455T>C	(Likely) benign	1 lab	ea00f82ec5
14:74753421 ABCD4 G>A	14	74753421	74753421	G	A	ABCD4	c.1735C>T	NM_005050.4	NP_005041.1:p.(Arg579Trp)	NC_000014.8:g.74753421G>A	VUS	1 lab	ea010eddbf
4:86896076 ARHGAP24 G>T	4	86896076	86896076	G	T	ARHGAP24	c.768G>T	NM_001025616.3	NP_001020787.2:p.(Leu256Phe)	NC_000004.11:g.86896076G>T	VUS	1 lab	302a19f054
4:6302472 WFS1 C>G	4	6302472	6302472	C	G	WFS1	c.950C>G	NM_006005.3	NP_005996.2:p.(Thr317Ser)	NC_000004.11:g.6302472C>G	VUS	1 lab	ea04058b07
2:179407135 TTN C>T	2	179407135	179407135	C	T	TTN	c.97348G>A	NM_001267550.2	NP_001254479.2:p.(Val32450Ile)	NC_000002.11:g.179407135C>T	(Likely) benign	1 lab	ea07511228
7:44189366 GCK C>A	7	44189366	44189366	C	A	GCK	c.672G>T	NM_000162.5	NP_000153.1:p.(Met224Ile)	NC_000007.13:g.44189366C>A	(Likely) pathogenic	1 lab	ea09d95809
2:232156084 ARMC9 C>T	2	232156084	232156084	C	T	ARMC9	c.1645C>T	NM_001352754.2	NP_001339683.2:p.(Arg549Cys)	NC_000002.11:g.232156084C>T	(Likely) benign	1 lab	ea0abec5b6
1:145457548 POLR3GL G>A	1	145457548	145457548	G	A	POLR3GL	c.382C>T	NM_032305.3	NP_115681.1:p.(Arg128Trp)	NC_000001.10:g.145457548G>A	VUS	1 lab	ea0ac8a62f
2:48586187 FOXN2 T>C	2	48586187	48586187	T	C	FOXN2	c.539T>C	NM_002158.4	NP_002149.2:p.(Val180Ala)	NC_000002.11:g.48586187T>C	VUS	1 lab	ea0d5e3240
16:2136455 TSC2 C>T	16	2136455	2136455	C	T	TSC2	c.4849+75C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136455C>T	(Likely) benign	1 lab	3771c7b313
20:44639575 MMP9 T>C	20	44639575	44639575	T	C	MMP9	c.535T>C	NM_004994.3	NP_004985.2:p.(Tyr179His)	NC_000020.10:g.44639575T>C	VUS	1 lab	ea0dfa1ffd
1:202731904 KDM5B G>A	1	202731904	202731904	G	A	KDM5B	c.841C>T	NM_006618.5	NP_006609.3:p.(Pro281Ser)	NC_000001.10:g.202731904G>A	VUS	1 lab	ea10c3946b
2:73677631 ALMS1 T>C	2	73677631	73677631	T	C	ALMS1	c.3977T>C	NM_001378454.1	NP_001365383.1:p.(Ile1326Thr)	NC_000002.11:g.73677631T>C	VUS	1 lab	ea12407548
7:103053497 SLC26A5 G>A	7	103053497	103053497	G	A	SLC26A5	c.355C>T	NM_198999.3	NP_945350.1:p.(Pro119Ser)	NC_000007.13:g.103053497G>A	VUS	1 lab	ea1267a03a
4:55955592 KDR C>T	4	55955592	55955592	C	T	KDR	c.3353G>A	NM_002253.4	NP_002244.1:p.(Arg1118Gln)	NC_000004.11:g.55955592C>T	(Likely) benign	1 lab	ea12d8752a
16:88909448 GALNS C>A	16	88909448	88909448	C	A	GALNS	c.121-211G>T	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88909448C>A	(Likely) benign	1 lab	ea14e36e11
1:150484242 ECM1 CA>C	1	150484242	150484243	CA	C	ECM1	c.1019del	NM_004425.4	NP_004416.2:p.(Gln340ArgfsTer37)	NC_000001.10:g.150484243del	(Likely) pathogenic	1 lab	ea166d0dad
7:128494216 FLNC T>C	7	128494216	128494216	T	C	FLNC	c.6673T>C	NM_001458.5	NP_001449.3:p.(Phe2225Leu)	NC_000007.13:g.128494216T>C	VUS	1 lab	ea16ae863c
19:11364314 DOCK6 C>A	19	11364314	11364314	C	A	DOCK6	c.132+1G>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11364314C>A	(Likely) pathogenic	1 lab	ea17b5f63f
1:27101492 ARID1A C>T	1	27101492	27101492	C	T	ARID1A	c.4774C>T	NM_006015.6	NP_006006.3:p.(Pro1592Ser)	NC_000001.10:g.27101492C>T	(Likely) benign	1 lab	ea17dabd70
X:110987996 ALG13 ACCTCCTCCTCCTCCTCCT>A	X	110987996	110988035	ACCTCCTCCTCCTCCTCCT	A	ALG13	c.2818_2835del	NM_001099922.3	NP_001093392.1:p.(Pro940_Pro945del)	NC_000023.10:g.110988018_110988035del	VUS	1 lab	ea1817fd32
7:56066726 NIPSNAP2 C>T	7	56066726	56066726	C	T	NIPSNAP2	c.822C>T	NM_001483.3	NP_001474.1:p.(Ser274=)	NC_000007.13:g.56066726C>T	VUS	1 lab	ea18314b09
11:126294851 KIRREL3 A>G	11	126294851	126294851	A	G	KIRREL3	c.1961T>C	NM_032531.4	NP_115920.1:p.(Leu654Pro)	NC_000011.9:g.126294851A>G	VUS	1 lab	ea1859d10e
15:55611595 PIGB C>T	15	55611595	55611595	C	T	PIGB	c.147C>T	NM_004855.5	NP_004846.4:p.(Ser49=)	NC_000015.9:g.55611595C>T	VUS	1 lab	ea18ba8258
20:50400863 SALL4 C>T	20	50400863	50400863	C	T	SALL4	c.3103G>A	NM_020436.5	NP_065169.1:p.(Gly1035Ser)	NC_000020.10:g.50400863C>T	(Likely) benign	1 lab	ea1dc25c2b
2:215818696 ABCA12 G>A	2	215818696	215818696	G	A	ABCA12	c.6529C>T	NM_173076.3	NP_775099.2:p.(Pro2177Ser)	NC_000002.11:g.215818696G>A	VUS	1 lab	ea1e4c2c34
6:157527816 ARID1B T>TC	6	157527816	157527822	T	TC	ARID1B	c.5916dup	NM_001374828.1	NP_001361757.1:p.(Ser1974LysfsTer5)	NC_000006.11:g.157527822dup	(Likely) pathogenic	1 lab	ea1f13eab2
15:89873474 POLGARF C>G	15	89873474	89873474	C	G	POLGARF	c.748G>C	NM_001430120.1	NP_001417049.1:p.(Ala250Pro)	NC_000015.9:g.89873474C>G	(Likely) benign	1 lab	ea20814877
4:123117792 BLTP1 ATTGT>A	4	123117792	123117800	ATTGT	A	BLTP1	c.1060_1063del	NM_001384125.1	NP_001371054.1:p.(Leu354GlyfsTer12)	NC_000004.11:g.123117797_123117800del	(Likely) pathogenic	1 lab	ea21841d6a
14:103447198 CDC42BPB C>T	14	103447198	103447198	C	T	CDC42BPB	c.1052G>A	NM_006035.4	NP_006026.3:p.(Arg351Gln)	NC_000014.8:g.103447198C>T	VUS	1 lab	ea21ac9d5f
8:103231193 RRM2B G>A	8	103231193	103231193	G	A	RRM2B	c.551-18C>T	NM_015713.4	NP_056528.2:p.?	NC_000008.10:g.103231193G>A	(Likely) benign	1 lab	302dedf982
17:57126657 TRIM37 C>T	17	57126657	57126657	C	T	TRIM37	c.1412G>A	NM_015294.6	NP_056109.1:p.(Arg471Gln)	NC_000017.10:g.57126657C>T	(Likely) benign	1 lab	ea237fbfb4
12:57464459 NEMP1 C>T	12	57464459	57464459	C	T	NEMP1	c.470G>A	NM_001130963.2	NP_001124435.1:p.(Arg157Gln)	NC_000012.11:g.57464459C>T	VUS	1 lab	ea238ad290
17:41891655 MPP3 C>T	17	41891655	41891655	C	T	MPP3	c.1084G>A	NM_001932.6	NP_001923.2:p.(Gly362Arg)	NC_000017.10:g.41891655C>T	(Likely) benign	1 lab	ea2431e695
14:20871979 TEP1 G>A	14	20871979	20871979	G	A	TEP1	c.1097C>T	NM_007110.5	NP_009041.2:p.(Thr366Met)	NC_000014.8:g.20871979G>A	(Likely) benign	1 lab	ea26bca747
16:2159604 PKD1 AC>A	16	2159604	2159606	AC	A	PKD1	c.5563del	NM_001009944.3	NP_001009944.3:p.(Val1855SerfsTer94)	NC_000016.9:g.2159606del	(Likely) pathogenic	1 lab	ea26e9d738
14:102252364 PPP2R5C G>A	14	102252364	102252364	G	A	PPP2R5C	c.103G>A	NM_001352913.2	NP_001339842.1:p.(Val35Ile)	NC_000014.8:g.102252364G>A	(Likely) benign	1 lab	ea27d7860a
6:29641295 ZFP57 T>C	6	29641295	29641295	T	C	ZFP57	c.593A>G	NM_001109809.5	NP_001103279.2:p.(Asn198Ser)	NC_000006.11:g.29641295T>C	(Likely) benign	1 lab	ea27e99d2f
22:36122346 APOL5 T>A	22	36122346	36122346	T	A	APOL5	c.231T>A	NM_030642.1	NP_085145.1:p.(Phe77Leu)	NC_000022.10:g.36122346T>A	(Likely) benign	1 lab	ea293f7123
16:68867184 CDH1 CT>C	16	68867184	68867186	CT	C	CDH1	c.2440-7del	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68867186del	(Likely) benign	1 lab	ea2a4c4e89
16:23646809 PALB2 TTC>T	16	23646809	23646814	TTC	T	PALB2	c.1056_1057del	NM_024675.4	NP_078951.2:p.(Lys353IlefsTer7)	NC_000016.9:g.23646813_23646814del	(Likely) pathogenic	1 lab	ea2a970336
15:89414624 ACAN T>C	15	89414624	89414624	T	C	ACAN	c.7072T>C	NM_001369268.1	NP_001356197.1:p.(Cys2358Arg)	NC_000015.9:g.89414624T>C	VUS	1 lab	ea2b3d1fdf
3:167422642 PDCD10 G>A	3	167422642	167422642	G	A	PDCD10	c.138C>T	NM_007217.4	NP_009148.2:p.(Ala46=)	NC_000003.11:g.167422642G>A	(Likely) benign	1 lab	ea2d0090e9
2:179522806 TTN G>GGGACAATCGGA	2	179522806	179522818	G	GGGACAATCGGA	TTN	c.37779_37789dup	NM_001267550.2	NP_001254479.2:p.(Pro12597LeufsTer354)	NC_000002.11:g.179522808_179522818dup	VUS	1 lab	ea2d5065dd
7:111382161 DOCK4 C>T	7	111382161	111382161	C	T	DOCK4	c.4705G>A	NM_001363540.2	NP_001350469.1:p.(Val1569Met)	NC_000007.13:g.111382161C>T	VUS	1 lab	ea2e026570
X:108641799 GUCY2F T>C	X	108641799	108641799	T	C	GUCY2F	c.2254A>G	NM_001522.3	NP_001513.2:p.(Met752Val)	NC_000023.10:g.108641799T>C	VUS	1 lab	ea2e79b481
2:220077209 ABCB6 C>CT	2	220077209	220077210	C	CT	ABCB6	c.1867_1868insA	NM_005689.4	NP_005680.1:p.(Gly623GlufsTer55)	NC_000002.11:g.220077209_220077210insT	VUS	1 lab	ea2e9c53df
3:138244380 CEP70 TAA>T	3	138244380	138244383	TAA	T	CEP70	c.894_895del	NM_024491.4	NP_077817.2:p.(Tyr299Ter)	NC_000003.11:g.138244382_138244383del	VUS	1 lab	ea2fbe1cb5
1:22179462 HSPG2 C>T	1	22179462	22179462	C	T	HSPG2	c.6541G>A	NM_005529.7	NP_005520.4:p.(Ala2181Thr)	NC_000001.10:g.22179462C>T	(Likely) benign	1 lab	ea302eefda
17:59560662 TBX4 A>C	17	59560662	59560662	A	C	TBX4	c.1426A>C	NM_001321120.2	NP_001308049.1:p.(Asn476His)	NC_000017.10:g.59560662A>C	VUS	1 lab	ea3256ebbe
4:79396667 FRAS1 C>T	4	79396667	79396667	C	T	FRAS1	c.7758C>T	NM_025074.7	NP_079350.5:p.(Ile2586=)	NC_000004.11:g.79396667C>T	(Likely) benign	1 lab	ea333c6c4e
16:3778399 CREBBP C>A	16	3778399	3778399	C	A	CREBBP	c.6649G>T	NM_004380.3	NP_004371.2:p.(Gly2217Trp)	NC_000016.9:g.3778399C>A	VUS	1 lab	ea359277e7
12:64814015 XPOT T>C	12	64814015	64814015	T	C	XPOT	c.655T>C	NM_007235.6	NP_009166.2:p.(Ser219Pro)	NC_000012.11:g.64814015T>C	(Likely) benign	1 lab	ea35a226f5
6:132129403 ENPP1 A>C	6	132129403	132129403	A	C	ENPP1	c.228A>C	NM_006208.3	NP_006199.2:p.(Lys76Asn)	NC_000006.11:g.132129403A>C	VUS	1 lab	ea368bac7b
17:8013543 ALOXE3 GC>G	17	8013543	8013545	GC	G	ALOXE3	c.1171del	NM_021628.3	NP_067641.2:p.(Ala391ProfsTer57)	NC_000017.10:g.8013545del	(Likely) pathogenic	1 lab	2d77d7d9b8
X:101909897 GPRASP1 A>C	X	101909897	101909897	A	C	GPRASP1	c.1056A>C	NM_001184727.2	NP_001171656.1:p.(Lys352Asn)	NC_000023.10:g.101909897A>C	(Likely) benign	1 lab	ea36d3836f
16:30976236 SETD1A A>C	16	30976236	30976236	A	C	SETD1A	c.1173A>C	NM_014712.3	NP_055527.1:p.(Glu391Asp)	NC_000016.9:g.30976236A>C	(Likely) benign	1 lab	ea3820ad96
17:61613292 KCNH6 C>G	17	61613292	61613292	C	G	KCNH6	c.1364C>G	NM_001278919.2	NP_001265848.1:p.(Ser455Trp)	NC_000017.10:g.61613292C>G	VUS	1 lab	ea3918079a
4:184174908 WWC2 A>T	4	184174908	184174908	A	T	WWC2	c.954-2A>T	NM_024949.6	NP_079225.5:p.?	NC_000004.11:g.184174908A>T	(Likely) benign	1 lab	ea395ee96b
19:4099410 MAP2K2 C>T	19	4099410	4099410	C	T	MAP2K2	c.708G>A	NM_030662.4	NP_109587.1:p.(Pro236=)	NC_000019.9:g.4099410C>T	(Likely) benign	1 lab	ea39b8a613
18:72229284 CNDP1 A>C	18	72229284	72229284	A	C	CNDP1	c.469A>C	NM_032649.6	NP_116038.4:p.(Lys157Gln)	NC_000018.9:g.72229284A>C	VUS	1 lab	ea3ba69be1
2:54858681 SPTBN1 C>A	2	54858681	54858681	C	A	SPTBN1	c.3497C>A	NM_003128.3	NP_003119.2:p.(Ser1166Tyr)	NC_000002.11:g.54858681C>A	VUS	1 lab	2d79ffc628
1:176526147 PAPPA2 G>C	1	176526147	176526147	G	C	PAPPA2	c.689G>C	NM_020318.3	NP_064714.2:p.(Arg230Thr)	NC_000001.10:g.176526147G>C	(Likely) benign	1 lab	ea3dd656c9
12:12318214 LRP6 C>T	12	12318214	12318214	C	T	LRP6	c.1561G>A	NM_002336.3	NP_002327.2:p.(Gly521Ser)	NC_000012.11:g.12318214C>T	VUS	1 lab	ea3e88c045
X:100808249 ARMCX1 C>G	X	100808249	100808249	C	G	ARMCX1	c.336C>G	NM_016608.2	NP_057692.1:p.(Phe112Leu)	NC_000023.10:g.100808249C>G	(Likely) benign	1 lab	ea3efa9a91
X:76763779 ATRX T>A	X	76763779	76763779	T	A	ATRX	c.*50A>T	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76763779T>A	(Likely) benign	1 lab	3031a05778
22:19931939 COMT T>C	22	19931939	19931939	T	C	COMT	c.-92+2519T>C	NM_000754.4	NP_000745.1:p.?	NC_000022.10:g.19931939T>C	(Likely) benign	1 lab	ea4155ab25
8:124696948 ANXA13 C>G	8	124696948	124696948	C	G	ANXA13	c.733G>C	NM_004306.4	NP_004297.2:p.(Asp245His)	NC_000008.10:g.124696948C>G	VUS	1 lab	ea4188bfb5
11:103130715 DYNC2H1 C>A	11	103130715	103130715	C	A	DYNC2H1	c.10695+9C>A	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103130715C>A	(Likely) benign	1 lab	ea440f5593
X:3228182 MXRA5 C>T	X	3228182	3228182	C	T	MXRA5	c.8062G>A	NM_015419.4	NP_056234.2:p.(Val2688Ile)	NC_000023.10:g.3228182C>T	VUS	1 lab	ea48f7ea75
9:113547877 MUSK A>G	9	113547877	113547877	A	G	MUSK	c.1657A>G	NM_005592.4	NP_005583.1:p.(Met553Val)	NC_000009.11:g.113547877A>G	(Likely) pathogenic	1 lab	ea49d16d1a
3:142238548 ATR G>A	3	142238548	142238548	G	A	ATR	c.4345C>T	NM_001184.4	NP_001175.2:p.(His1449Tyr)	NC_000003.11:g.142238548G>A	(Likely) benign	1 lab	ea4d930f3c
6:36447474 KCTD20 G>A	6	36447474	36447474	G	A	KCTD20	c.644G>A	NM_173562.5	NP_775833.2:p.(Arg215Gln)	NC_000006.11:g.36447474G>A	VUS	1 lab	ea4e558fd0
6:158924048 TULP4 G>A	6	158924048	158924048	G	A	TULP4	c.3353G>A	NM_020245.5	NP_064630.2:p.(Arg1118Gln)	NC_000006.11:g.158924048G>A	VUS	1 lab	ea4f2a27f1
2:55874492 PNPT1 G>C	2	55874492	55874492	G	C	PNPT1	c.1592C>G	NM_033109.5	NP_149100.2:p.(Thr531Arg)	NC_000002.11:g.55874492G>C	(Likely) pathogenic	1 lab	ea4fdba474
6:52878605 CILK1 C>T	6	52878605	52878605	C	T	CILK1	c.1007G>A	NM_014920.5	NP_055735.1:p.(Arg336Gln)	NC_000006.11:g.52878605C>T	(Likely) benign	1 lab	ea52c31341
1:158736231 OR6N1 A>G	1	158736231	158736231	A	G	OR6N1	c.242T>C	NM_001005185.2	NP_001005185.1:p.(Met81Thr)	NC_000001.10:g.158736231A>G	VUS	1 lab	ea533c6b3a
11:117253573 CEP164 G>A	11	117253573	117253573	G	A	CEP164	c.1639G>A	NM_014956.5	NP_055771.4:p.(Glu547Lys)	NC_000011.9:g.117253573G>A	(Likely) benign	1 lab	30324cc6af
17:48277237 COL1A1 G>A	17	48277237	48277237	G	A	COL1A1	c.175C>T	NM_000088.4	NP_000079.2:p.(Arg59Trp)	NC_000017.10:g.48277237G>A	VUS	1 lab	ea54baeaab
16:2161808 PKD1 C>A	16	2161808	2161808	C	A	PKD1	c.3360G>T	NM_001009944.3	NP_001009944.3:p.(Val1120=)	NC_000016.9:g.2161808C>A	(Likely) benign	1 lab	ea54d740b9
9:2643634 VLDLR G>C	9	2643634	2643634	G	C	VLDLR	c.827G>C	NM_003383.5	NP_003374.3:p.(Arg276Pro)	NC_000009.11:g.2643634G>C	VUS	1 lab	ea54fccbea
10:43615117 RET G>T	10	43615117	43615117	G	T	RET	c.2531G>T	NM_020975.6	NP_066124.1:p.(Arg844Leu)	NC_000010.10:g.43615117G>T	VUS	1 lab	ea55b09e0d
11:31812324 PAX6 T>G	11	31812324	31812324	T	G	PAX6	c.1159A>C	NM_001368894.2	NP_001355823.1:p.(Thr387Pro)	NC_000011.9:g.31812324T>G	VUS	1 lab	ea567c4f8c
14:92465697 TRIP11 A>C	14	92465697	92465697	A	C	TRIP11	c.4779T>G	NM_004239.4	NP_004230.2:p.(Asp1593Glu)	NC_000014.8:g.92465697A>C	VUS	1 lab	ea58077ea6
3:47044451 NBEAL2 A>G	3	47044451	47044451	A	G	NBEAL2	c.5464A>G	NM_015175.3	NP_055990.1:p.(Thr1822Ala)	NC_000003.11:g.47044451A>G	(Likely) benign	1 lab	ea584b8951
11:66307188 ZDHHC24 G>A	11	66307188	66307188	G	A	ZDHHC24	c.667C>T	NM_207340.3	NP_997223.1:p.(Arg223Trp)	NC_000011.9:g.66307188G>A	VUS	1 lab	ea59d64ef6
6:44108793 TMEM63B T>G	6	44108793	44108793	T	G	TMEM63B	c.740T>G	NM_018426.3	NP_060896.1:p.(Ile247Ser)	NC_000006.11:g.44108793T>G	VUS	1 lab	ea5a89c345
16:2160939 PKD1 T>A	16	2160939	2160939	T	A	PKD1	c.4229A>T	NM_001009944.3	NP_001009944.3:p.(Tyr1410Phe)	NC_000016.9:g.2160939T>A	VUS	1 lab	ea5a9d59cc
2:37292904 HEATR5B A>G	2	37292904	37292904	A	G	HEATR5B	c.1327T>C	NM_019024.3	NP_061897.1:p.(Ser443Pro)	NC_000002.11:g.37292904A>G	VUS	1 lab	ea5dd95b7b
17:36093661 HNF1B C>A	17	36093661	36093661	C	A	HNF1B	c.698G>T	NM_000458.4	NP_000449.1:p.(Arg233Leu)	NC_000017.10:g.36093661C>A	VUS	1 lab	ea5e906091
12:113599138 DDX54 C>T	12	113599138	113599138	C	T	DDX54	c.2350G>A	NM_024072.4	NP_076977.3:p.(Glu784Lys)	NC_000012.11:g.113599138C>T	(Likely) benign	1 lab	ea5eebd120
5:7868313 FASTKD3 GAAA>G	5	7868313	7868336	GAAA	G	FASTKD3	c.-113-7_-113-5del	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868334_7868336del	(Likely) benign	1 lab	ea5f2892c8
15:50193341 ATP8B4 A>G	15	50193341	50193341	A	G	ATP8B4	c.2237T>C	NM_024837.4	NP_079113.2:p.(Val746Ala)	NC_000015.9:g.50193341A>G	VUS	1 lab	ea61ed71d0
19:42880019 MEGF8 C>T	19	42880019	42880019	C	T	MEGF8	c.7630C>T	NM_001271938.2	NP_001258867.1:p.(Arg2544Trp)	NC_000019.9:g.42880019C>T	VUS	1 lab	ea6279601d
17:31266562 TMEM98 C>T	17	31266562	31266562	C	T	TMEM98	c.473+8C>T	NM_015544.3	NP_056359.2:p.?	NC_000017.10:g.31266562C>T	(Likely) benign	1 lab	ea650a2365
1:228462433 OBSCN G>C	1	228462433	228462433	G	C	OBSCN	c.6969G>C	NM_001386125.1	NP_001373054.1:p.(Gln2323His)	NC_000001.10:g.228462433G>C	VUS	1 lab	ea655f6a0c
X:76937657 ATRX C>T	X	76937657	76937657	C	T	ATRX	c.3091G>A	NM_000489.6	NP_000480.3:p.(Gly1031Ser)	NC_000023.10:g.76937657C>T	(Likely) benign	1 lab	ea65f34794
18:47511141 MYO5B C>T	18	47511141	47511141	C	T	MYO5B	c.893G>A	NM_001080467.3	NP_001073936.1:p.(Gly298Asp)	NC_000018.9:g.47511141C>T	VUS	1 lab	ea66793ad1
18:28669484 DSC2 C>T	18	28669484	28669484	C	T	DSC2	c.548G>A	NM_024422.6	NP_077740.1:p.(Arg183Gln)	NC_000018.9:g.28669484C>T	(Likely) benign	1 lab	ea66affe64
1:8421093 RERE G>A	1	8421093	8421093	G	A	RERE	c.2474C>T	NM_001042681.2	NP_001036146.1:p.(Pro825Leu)	NC_000001.10:g.8421093G>A	VUS	1 lab	ea6701e864
3:101283807 TRMT10C T>C	3	101283807	101283807	T	C	TRMT10C	c.182T>C	NM_017819.4	NP_060289.2:p.(Leu61Pro)	NC_000003.11:g.101283807T>C	VUS	1 lab	ea672c46b1
19:5691531 RPL36 C>T	19	5691531	5691531	C	T	RPL36	c.229-12C>T	NM_033643.3	NP_378669.1:p.?	NC_000019.9:g.5691531C>T	(Likely) benign	1 lab	ea67b956bd
X:54521665 FGD1 G>T	X	54521665	54521665	G	T	FGD1	c.201C>A	NM_004463.3	NP_004454.2:p.(Ser67Arg)	NC_000023.10:g.54521665G>T	(Likely) benign	1 lab	ea67ce9e50
12:7084486 EMG1 G>A	12	7084486	7084486	G	A	EMG1	c.567G>A	NM_006331.8	NP_006322.4:p.(Leu189=)	NC_000012.11:g.7084486G>A	VUS	1 lab	ea67dca65f
8:144788948 CCDC166 A>T	8	144788948	144788948	A	T	CCDC166	c.1236T>A	NM_001162914.1	NP_001156386.1:p.(Asp412Glu)	NC_000008.10:g.144788948A>T	(Likely) benign	1 lab	ea6882d259
4:126412333 FAT4 G>A	4	126412333	126412333	G	A	FAT4	c.14362G>A	NM_001291303.3	NP_001278232.1:p.(Gly4788Arg)	NC_000004.11:g.126412333G>A	VUS	1 lab	ea69bd2920
16:2142079 PKD1 TC>T	16	2142079	2142083	TC	T	PKD1	c.11379del	NM_001009944.3	NP_001009944.3:p.(Thr3794ArgfsTer32)	NC_000016.9:g.2142083del	(Likely) pathogenic	1 lab	ea6aa00adb
13:50279865 KPNA3 C>A	13	50279865	50279865	C	A	KPNA3	c.1264G>T	NM_002267.4	NP_002258.2:p.(Val422Leu)	NC_000013.10:g.50279865C>A	(Likely) benign	1 lab	ea6cdaef10
7:299908 FAM20C G>A	7	299908	299908	G	A	FAM20C	c.1717G>A	NM_020223.4	NP_064608.2:p.(Asp573Asn)	NC_000007.13:g.299908G>A	VUS	1 lab	ea6dd50cde
2:220418334 OBSL1 C>A	2	220418334	220418334	C	A	OBSL1	c.4951G>T	NM_015311.3	NP_056126.1:p.(Glu1651Ter)	NC_000002.11:g.220418334C>A	(Likely) benign	1 lab	ea6e1c3c08
8:21978326 HR C>T	8	21978326	21978326	C	T	HR	c.2513G>A	NM_005144.5	NP_005135.2:p.(Arg838Gln)	NC_000008.10:g.21978326C>T	(Likely) benign	1 lab	ea6ff6cb2d
14:75323693 PROX2 G>C	14	75323693	75323693	G	C	PROX2	c.1419C>G	NM_001243007.2	NP_001229936.1:p.(Asn473Lys)	NC_000014.8:g.75323693G>C	VUS	1 lab	ea7022f0f2
19:55660537 TNNT1 T>C	19	55660537	55660537	T	C	TNNT1	c.-20A>G	NM_003283.6	NP_003274.3:p.?	NC_000019.9:g.55660537T>C	(Likely) benign	1 lab	2d7a440d60
4:184629612 TRAPPC11 A>G	4	184629612	184629612	A	G	TRAPPC11	c.3242A>G	NM_021942.6	NP_068761.4:p.(Tyr1081Cys)	NC_000004.11:g.184629612A>G	VUS	1 lab	ea70984df0
14:51221543 NIN T>A	14	51221543	51221543	T	A	NIN	c.4581A>T	NM_020921.4	NP_065972.4:p.(Arg1527Ser)	NC_000014.8:g.51221543T>A	VUS	1 lab	ea72476b5f
8:144940802 EPPK1 G>A	8	144940802	144940802	G	A	EPPK1	c.6620C>T	NM_031308.4	NP_112598.3:p.(Thr2207Met)	NC_000008.10:g.144940802G>A	(Likely) benign	1 lab	ea73346780
17:11584124 DNAH9 A>G	17	11584124	11584124	A	G	DNAH9	c.3661A>G	NM_001372.4	NP_001363.2:p.(Thr1221Ala)	NC_000017.10:g.11584124A>G	(Likely) benign	1 lab	ea73f2fa02
4:166929090 TLL1 C>A	4	166929090	166929090	C	A	TLL1	c.812-5C>A	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166929090C>A	(Likely) benign	1 lab	ea767f00c1
12:19427719 PLEKHA5 A>G	12	19427719	19427719	A	G	PLEKHA5	c.1115A>G	NM_001256470.2	NP_001243399.1:p.(Tyr372Cys)	NC_000012.11:g.19427719A>G	VUS	1 lab	ea77157896
2:238296636 COL6A3 TGGA>T	2	238296636	238296640	TGGA	T	COL6A3	c.898_900del	NM_004369.4	NP_004360.2:p.(Ser300del)	NC_000002.11:g.238296638_238296640del	VUS	1 lab	ea7825608f
11:117282865 CEP164 T>C	11	117282865	117282865	T	C	CEP164	c.4364T>C	NM_014956.5	NP_055771.4:p.(Val1455Ala)	NC_000011.9:g.117282865T>C	VUS	1 lab	ea7916b443
19:18899201 COMP CGCT>C	19	18899201	18899204	CGCT	C	COMP	c.867+15_867+17del	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899202_18899204del	(Likely) benign	1 lab	ea791b2c2c
X:23704395 PRDX4 T>G	X	23704395	23704395	T	G	PRDX4	c.766-7T>G	NM_006406.2	NP_006397.1:p.?	NC_000023.10:g.23704395T>G	(Likely) benign	1 lab	ea7bef7655
11:114168675 NNMT G>A	11	114168675	114168675	G	A	NNMT	c.157G>A	NM_006169.3	NP_006160.1:p.(Gly53Ser)	NC_000011.9:g.114168675G>A	VUS	1 lab	ea7c8488ad
2:166901695 SCN1A TTC>T	2	166901695	166901698	TTC	T	SCN1A	c.1518_1519del	NM_001165963.4	NP_001159435.1:p.(Lys507ArgfsTer10)	NC_000002.11:g.166901697_166901698del	(Likely) pathogenic	1 lab	2d7fcb0c3c
2:48025820 MSH6 C>T	2	48025820	48025820	C	T	MSH6	c.698C>T	NM_000179.3	NP_000170.1:p.(Pro233Leu)	NC_000002.11:g.48025820C>T	VUS	1 lab	2d8346a1f2
8:48868517 PRKDC TA>T	8	48868517	48868527	TA	T	PRKDC	c.325-10del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48868527del	(Likely) benign	1 lab	303413cc32
17:27183519 ERAL1 G>T	17	27183519	27183519	G	T	ERAL1	c.412-4G>T	NM_005702.4	NP_005693.1:p.?	NC_000017.10:g.27183519G>T	VUS	1 lab	ea7ec86348
6:135787499 AHI1 T>C	6	135787499	135787499	T	C	AHI1	c.202A>G	NM_001134831.2	NP_001128303.1:p.(Arg68Gly)	NC_000006.11:g.135787499T>C	(Likely) benign	1 lab	ea84483544
16:75576500 TMEM231 C>T	16	75576500	75576500	C	T	TMEM231	c.664G>A	NM_001077418.3	NP_001070886.1:p.(Val222Ile)	NC_000016.9:g.75576500C>T	(Likely) pathogenic	1 lab	ea85a7bc72
5:115394491 ARL14EPL G>C	5	115394491	115394491	G	C	ARL14EPL	c.306G>C	NM_001195581.2	NP_001182510.1:p.(Glu102Asp)	NC_000005.9:g.115394491G>C	VUS	1 lab	ea864577ff
9:711823 KANK1 G>A	9	711823	711823	G	A	KANK1	c.1057G>A	NM_015158.5	NP_055973.2:p.(Glu353Lys)	NC_000009.11:g.711823G>A	(Likely) benign	1 lab	ea8704ee8b
3:141163436 ZBTB38 A>G	3	141163436	141163436	A	G	ZBTB38	c.2206A>G	NM_001376113.1	NP_001363042.1:p.(Met736Val)	NC_000003.11:g.141163436A>G	(Likely) benign	1 lab	ea88c5cfea
17:79892229 PYCR1 G>A	17	79892229	79892229	G	A	PYCR1	c.770C>T	NM_006907.4	NP_008838.2:p.(Ala257Val)	NC_000017.10:g.79892229G>A	VUS	1 lab	ea8a192caf
1:205119802 DSTYK C>T	1	205119802	205119802	C	T	DSTYK	c.2467+6G>A	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205119802C>T	(Likely) benign	1 lab	ea98d7ed81
19:42880856 MEGF8 A>G	19	42880856	42880856	A	G	MEGF8	c.8467A>G	NM_001271938.2	NP_001258867.1:p.(Ser2823Gly)	NC_000019.9:g.42880856A>G	(Likely) benign	1 lab	ea8a8f0946
2:152473999 NEB AAAAG>A	2	152473999	152474004	AAAAG	A	NEB	c.11077-21_11077-18del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474001_152474004del	(Likely) benign	1 lab	ea8c2be5d0
22:37499277 TMPRSS6 C>G	22	37499277	37499277	C	G	TMPRSS6	c.181G>C	NM_001374504.1	NP_001361433.1:p.(Val61Leu)	NC_000022.10:g.37499277C>G	(Likely) benign	1 lab	ea8c8132fa
X:118239088 KIAA1210 C>T	X	118239088	118239088	C	T	KIAA1210	c.515G>A	NM_001394962.1	NP_001381891.1:p.(Arg172Gln)	NC_000023.10:g.118239088C>T	(Likely) benign	1 lab	ea8d0b2984
X:49114808 FOXP3 C>A	X	49114808	49114808	C	A	FOXP3	c.155G>T	NM_014009.4	NP_054728.2:p.(Gly52Val)	NC_000023.10:g.49114808C>A	(Likely) benign	1 lab	ea8fbd2773
4:8229140 SH3TC1 G>T	4	8229140	8229140	G	T	SH3TC1	c.1719G>T	NM_018986.5	NP_061859.4:p.(Arg573Ser)	NC_000004.11:g.8229140G>T	(Likely) benign	1 lab	ea8ff04480
2:141773399 LRP1B G>A	2	141773399	141773399	G	A	LRP1B	c.2056C>T	NM_018557.3	NP_061027.2:p.(Arg686Trp)	NC_000002.11:g.141773399G>A	VUS	1 lab	ea9084f172
1:179544912 NPHS2 C>T	1	179544912	179544912	C	T	NPHS2	c.88G>A	NM_014625.4	NP_055440.1:p.(Glu30Lys)	NC_000001.10:g.179544912C>T	VUS	1 lab	ea94601ed1
7:48258950 ABCA13 G>C	7	48258950	48258950	G	C	ABCA13	c.288-1G>C	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48258950G>C	VUS	1 lab	ea972157f8
15:91483059 UNC45A G>A	15	91483059	91483059	G	A	UNC45A	c.519+6G>A	NM_018671.5	NP_061141.2:p.?	NC_000015.9:g.91483059G>A	(Likely) benign	1 lab	ea973680b9
19:3633174 PIP5K1C G>A	19	3633174	3633174	G	A	PIP5K1C	c.2005-7C>T	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3633174G>A	(Likely) benign	1 lab	ea97f3cb73
21:46930108 COL18A1 G>A	21	46930108	46930108	G	A	COL18A1	c.3626G>A	NM_001379500.1	NP_001366429.1:p.(Arg1209His)	NC_000021.8:g.46930108G>A	VUS	1 lab	ea98bd3046
1:7725209 CAMTA1 G>A	1	7725209	7725209	G	A	CAMTA1	c.2602G>A	NM_015215.4	NP_056030.1:p.(Gly868Arg)	NC_000001.10:g.7725209G>A	(Likely) benign	1 lab	ea9a0fee90
6:51524531 PKHD1 T>C	6	51524531	51524531	T	C	PKHD1	c.10393A>G	NM_138694.4	NP_619639.3:p.(Ile3465Val)	NC_000006.11:g.51524531T>C	VUS	1 lab	ea9a2e514e
13:20579380 ZMYM2 G>A	13	20579380	20579380	G	A	ZMYM2	c.1299+1G>A	NM_003453.6	NP_003444.1:p.?	NC_000013.10:g.20579380G>A	(Likely) pathogenic	1 lab	2d871d428e
7:139719829 TBXAS1 C>T	7	139719829	139719829	C	T	TBXAS1	c.1532C>T	NM_001061.7	NP_001052.3:p.(Pro511Leu)	NC_000007.13:g.139719829C>T	(Likely) benign	1 lab	ea9e0a8369
17:29325809 RNF135 GC>G	17	29325809	29325811	GC	G	RNF135	c.901del	NM_032322.4	NP_115698.3:p.(Gln301ArgfsTer34)	NC_000017.10:g.29325811del	VUS	1 lab	ea9f5adafe
15:75632324 COMMD4 C>T	15	75632324	75632324	C	T	COMMD4	c.578C>T	NM_017828.5	NP_060298.2:p.(Thr193Ile)	NC_000015.9:g.75632324C>T	(Likely) benign	1 lab	eaa0212a74
3:78700880 ROBO1 A>C	3	78700880	78700880	A	C	ROBO1	c.2812+2T>G	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78700880A>C	VUS	1 lab	eaa0641295
14:31819046 HEATR5A A>T	14	31819046	31819046	A	T	HEATR5A	c.2657T>A	NM_015473.4	NP_056288.2:p.(Val886Glu)	NC_000014.8:g.31819046A>T	VUS	1 lab	eaa150a500
19:15276251 NOTCH3 G>A	19	15276251	15276251	G	A	NOTCH3	c.5743C>T	NM_000435.3	NP_000426.2:p.(Arg1915Cys)	NC_000019.9:g.15276251G>A	VUS	1 lab	eaa312132c
X:153586558 FLNA G>A	X	153586558	153586558	G	A	FLNA	c.4755+9C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153586558G>A	(Likely) benign	1 lab	eaa3bcbb06
16:1402021 GNPTG G>C	16	1402021	1402021	G	C	GNPTG	c.52+3G>C	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1402021G>C	VUS	1 lab	eaa4e0aece
3:42242415 TRAK1 G>A	3	42242415	42242415	G	A	TRAK1	c.1296G>A	NM_001042646.3	NP_001036111.1:p.(Ser432=)	NC_000003.11:g.42242415G>A	VUS	1 lab	eaa94d19ea
13:96508594 UGGT2 C>A	13	96508594	96508594	C	A	UGGT2	c.3826G>T	NM_020121.4	NP_064506.3:p.(Glu1276Ter)	NC_000013.10:g.96508594C>A	VUS	1 lab	eaa98e30f9
3:172165631 GHSR G>C	3	172165631	172165631	G	C	GHSR	c.573C>G	NM_198407.2	NP_940799.1:p.(Asp191Glu)	NC_000003.11:g.172165631G>C	(Likely) benign	1 lab	eaaa94b0e9
18:22806258 ZNF521 A>T	18	22806258	22806258	A	T	ZNF521	c.1624T>A	NM_015461.3	NP_056276.1:p.(Ser542Thr)	NC_000018.9:g.22806258A>T	(Likely) benign	1 lab	eaac32c5b0
4:123185587 BLTP1 G>A	4	123185587	123185587	G	A	BLTP1	c.7317+5G>A	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123185587G>A	(Likely) benign	1 lab	eaac5bc8ef
19:56001769 SSC5D C>T	19	56001769	56001769	C	T	SSC5D	c.580C>T	NM_001144950.2	NP_001138422.1:p.(Arg194Cys)	NC_000019.9:g.56001769C>T	VUS	1 lab	eaad2dbb96
3:42244386 TRAK1 TC>T	3	42244386	42244388	TC	T	TRAK1	c.1744+144del	NM_001042646.3	NP_001036111.1:p.?	NC_000003.11:g.42244388del	VUS	1 lab	eaae2cc828
X:106312491 RBM41 A>G	X	106312491	106312491	A	G	RBM41	c.1141T>C	NM_001324242.2	NP_001311171.1:p.(Phe381Leu)	NC_000023.10:g.106312491A>G	VUS	1 lab	eaaeec2d35
2:21229686 APOB T>G	2	21229686	21229686	T	G	APOB	c.10054A>C	NM_000384.3	NP_000375.3:p.(Thr3352Pro)	NC_000002.11:g.21229686T>G	(Likely) benign	1 lab	eaaef83f0d
12:110029059 MVK T>C	12	110029059	110029059	T	C	MVK	c.782T>C	NM_000431.2	NP_000422.1:p.(Val261Ala)	NC_000012.11:g.110029059T>C	VUS	1 lab	303e6d0c67
1:36785343 SH3D21 C>T	1	36785343	36785343	C	T	SH3D21	c.1079C>T	NM_001162530.2	NP_001156002.1:p.(Ala360Val)	NC_000001.10:g.36785343C>T	VUS	1 lab	eab36c8ffb
1:8418824 RERE G>C	1	8418824	8418824	G	C	RERE	c.3771C>G	NM_001042681.2	NP_001036146.1:p.(Ser1257Arg)	NC_000001.10:g.8418824G>C	VUS	1 lab	eab41ef858
17:78063983 CCDC40 CAACACGGGACGCACGCAGGCACGTGCACGAAG>C	17	78063983	78064027	CAACACGGGACGCACGCAGGCACGTGCACGAAG	C	CCDC40	c.2832+313_2832+344del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063996_78064027del	(Likely) benign	1 lab	eab8b08e58
12:49720483 TROAP T>C	12	49720483	49720483	T	C	TROAP	c.749T>C	NM_005480.4	NP_005471.3:p.(Leu250Pro)	NC_000012.11:g.49720483T>C	(Likely) benign	1 lab	eab909dd57
2:152554125 NEB T>C	2	152554125	152554125	T	C	NEB	c.1190A>G	NM_001164508.2	NP_001157980.2:p.(Lys397Arg)	NC_000002.11:g.152554125T>C	(Likely) benign	1 lab	eaba8dc1b4
4:79366679 FRAS1 A>T	4	79366679	79366679	A	T	FRAS1	c.5669A>T	NM_025074.7	NP_079350.5:p.(Asp1890Val)	NC_000004.11:g.79366679A>T	VUS	1 lab	eabbd7e400
19:18979810 GDF1 T>G	19	18979810	18979810	T	G	GDF1	c.715A>C	NM_001492.6	NP_001483.3:p.(Thr239Pro)	NC_000019.9:g.18979810T>G	VUS	1 lab	eac0405e79
16:27374108 IL4R C>G	16	27374108	27374108	C	G	IL4R	c.1435C>G	NM_000418.4	NP_000409.1:p.(Pro479Ala)	NC_000016.9:g.27374108C>G	VUS	1 lab	eac2427815
17:48646331 CACNA1G C>T	17	48646331	48646331	C	T	CACNA1G	c.343C>T	NM_018896.5	NP_061496.2:p.(Arg115Trp)	NC_000017.10:g.48646331C>T	VUS	1 lab	eac3695719
11:67399795 TBX10 C>T	11	67399795	67399795	C	T	TBX10	c.862G>A	NM_005995.5	NP_005986.2:p.(Glu288Lys)	NC_000011.9:g.67399795C>T	(Likely) benign	1 lab	eac4294b28
2:128283747 IWS1 C>G	2	128283747	128283747	C	G	IWS1	c.34+4G>C	NM_017969.3	NP_060439.2:p.?	NC_000002.11:g.128283747C>G	(Likely) benign	1 lab	eac4e0d773
19:42776609 CIC G>A	19	42776609	42776609	G	A	CIC	c.674G>A	NM_001386298.1	NP_001373227.1:p.(Arg225His)	NC_000019.9:g.42776609G>A	(Likely) benign	1 lab	eac4e0de02
X:44386608 FUNDC1 C>A	X	44386608	44386608	C	A	FUNDC1	c.265G>T	NM_173794.4	NP_776155.1:p.(Ala89Ser)	NC_000023.10:g.44386608C>A	VUS	1 lab	eac758e503
2:108475628 RGPD4 G>A	2	108475628	108475628	G	A	RGPD4	c.1335G>A	NM_182588.3	NP_872394.2:p.(Trp445Ter)	NC_000002.11:g.108475628G>A	VUS	1 lab	eac7cd5ecd
12:124235662 ATP6V0A2 T>A	12	124235662	124235662	T	A	ATP6V0A2	c.1941T>A	NM_012463.4	NP_036595.2:p.(Tyr647Ter)	NC_000012.11:g.124235662T>A	VUS	1 lab	eac7fbe347
17:78358958 RNF213 C>G	17	78358958	78358958	C	G	RNF213	c.14442C>G	NM_001256071.3	NP_001243000.2:p.(Ser4814Arg)	NC_000017.10:g.78358958C>G	(Likely) benign	1 lab	eac84eeee8
10:61112225 FAM13C G>A	10	61112225	61112225	G	A	FAM13C	c.129C>T	NM_198215.4	NP_937858.2:p.(Asn43=)	NC_000010.10:g.61112225G>A	VUS	1 lab	eac98bb44f
X:2873535 ARSL T>A	X	2873535	2873535	T	A	ARSL	c.229A>T	NM_000047.3	NP_000038.2:p.(Thr77Ser)	NC_000023.10:g.2873535T>A	VUS	1 lab	eac98ffaee
20:34025351 GDF5 G>A	20	34025351	34025351	G	A	GDF5	c.358C>T	NM_000557.5	NP_000548.2:p.(Arg120Trp)	NC_000020.10:g.34025351G>A	VUS	1 lab	eaca01d497
3:196910519 DLG1 T>A	3	196910519	196910519	T	A	DLG1	c.483+10777A>T	NM_001366207.1	NP_001353136.1:p.?	NC_000003.11:g.196910519T>A	VUS	1 lab	eacb3387f1
9:109688681 ZNF462 A>T	9	109688681	109688681	A	T	ZNF462	c.2488A>T	NM_021224.6	NP_067047.4:p.(Asn830Tyr)	NC_000009.11:g.109688681A>T	(Likely) benign	1 lab	eacb641331
4:186298078 LRP2BP T>C	4	186298078	186298078	T	C	LRP2BP	c.201A>G	NM_001377440.1	NP_001364369.1:p.(Gln67=)	NC_000004.11:g.186298078T>C	VUS	1 lab	eacce7b8e4
15:63908736 HERC1 G>A	15	63908736	63908736	G	A	HERC1	c.13834C>T	NM_003922.4	NP_003913.3:p.(Pro4612Ser)	NC_000015.9:g.63908736G>A	VUS	1 lab	eacf4b6a07
X:57619028 ZXDB G>C	X	57619028	57619028	G	C	ZXDB	c.547G>C	NM_007157.4	NP_009088.1:p.(Gly183Arg)	NC_000023.10:g.57619028G>C	VUS	1 lab	ead007b97d
X:153582526 FLNA G>C	X	153582526	153582526	G	C	FLNA	c.5550C>G	NM_001110556.2	NP_001104026.1:p.(His1850Gln)	NC_000023.10:g.153582526G>C	VUS	1 lab	ead02dd484
19:18893846 COMP C>T	19	18893846	18893846	C	T	COMP	c.2227+18G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18893846C>T	(Likely) benign	1 lab	ead0417ac4
17:80039623 FASN C>T	17	80039623	80039623	C	T	FASN	c.6260G>A	NM_004104.5	NP_004095.4:p.(Arg2087His)	NC_000017.10:g.80039623C>T	VUS	1 lab	ead077e490
2:152404890 NEB C>T	2	152404890	152404890	C	T	NEB	c.20089G>A	NM_001164508.2	NP_001157980.2:p.(Gly6697Arg)	NC_000002.11:g.152404890C>T	VUS	1 lab	ead0fd685e
2:97847355 ANKRD36 G>C	2	97847355	97847355	G	C	ANKRD36	c.1756G>C	NM_001354587.1	NP_001341516.1:p.(Ala586Pro)	NC_000002.11:g.97847355G>C	VUS	1 lab	ead25394ee
7:98792900 KPNA7 G>T	7	98792900	98792900	G	T	KPNA7	c.346C>A	NM_001145715.3	NP_001139187.1:p.(Pro116Thr)	NC_000007.13:g.98792900G>T	VUS	1 lab	ead2601836
9:135946690 CEL G>A	9	135946690	135946690	G	A	CEL	c.1801G>A	NM_001807.6	NP_001798.3:p.(Ala601Thr)	NC_000009.11:g.135946690G>A	(Likely) benign	1 lab	ead4de2ba2
16:72827937 ZFHX3 C>T	16	72827937	72827937	C	T	ZFHX3	c.8644G>A	NM_006885.4	NP_008816.3:p.(Ala2882Thr)	NC_000016.9:g.72827937C>T	VUS	1 lab	ead5e93c71
6:109765437 MICAL1 C>T	6	109765437	109765437	C	T	MICAL1	c.3161G>A	NM_022765.4	NP_073602.3:p.(Arg1054His)	NC_000006.11:g.109765437C>T	(Likely) benign	1 lab	ead65a0e33
6:82459434 TENT5A G>C	6	82459434	82459434	G	C	TENT5A	c.1307C>G	NM_017633.3	NP_060103.2:p.(Ser436Cys)	NC_000006.11:g.82459434G>C	VUS	1 lab	ead7413c81
15:28389384 HERC2 G>A	15	28389384	28389384	G	A	HERC2	c.11141-3C>T	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28389384G>A	(Likely) benign	1 lab	ead8729892
5:13868103 DNAH5 T>TA	5	13868103	13868112	T	TA	DNAH5	c.3835-3dup	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13868112dup	VUS	1 lab	eadd3687ee
2:73682420 ALMS1 A>T	2	73682420	73682420	A	T	ALMS1	c.7672A>T	NM_001378454.1	NP_001365383.1:p.(Lys2558Ter)	NC_000002.11:g.73682420A>T	(Likely) pathogenic	1 lab	eade212407
8:140631217 KCNK9 G>T	8	140631217	140631217	G	T	KCNK9	c.409C>A	NM_001282534.2	NP_001269463.1:p.(Arg137Ser)	NC_000008.10:g.140631217G>T	VUS	1 lab	eade8a78d6
6:31829865 NEU1 C>G	6	31829865	31829865	C	G	NEU1	c.263G>C	NM_000434.4	NP_000425.1:p.(Gly88Ala)	NC_000006.11:g.31829865C>G	(Likely) benign	1 lab	eae03cf67f
1:63885084 ALG6 A>G	1	63885084	63885084	A	G	ALG6	c.1031A>G	NM_013339.4	NP_037471.2:p.(His344Arg)	NC_000001.10:g.63885084A>G	VUS	1 lab	eae09f5cbc
X:109459810 AMMECR1 C>T	X	109459810	109459810	C	T	AMMECR1	c.635G>A	NM_015365.3	NP_056180.1:p.(Arg212Gln)	NC_000023.10:g.109459810C>T	VUS	1 lab	2d8a1f13cf
14:102384186 PPP2R5C G>A	14	102384186	102384186	G	A	PPP2R5C	c.1438G>A	NM_001161725.2	NP_001155197.1:p.(Ala480Thr)	NC_000014.8:g.102384186G>A	VUS	1 lab	2d8bd2d5ec
9:129089236 MVB12B A>C	9	129089236	129089236	A	C	MVB12B	c.28A>C	NM_033446.3	NP_258257.1:p.(Ser10Arg)	NC_000009.11:g.129089236A>C	VUS	1 lab	eae9043100
2:225630550 DOCK10 G>A	2	225630550	225630550	G	A	DOCK10	c.6449C>T	NM_014689.3	NP_055504.2:p.(Thr2150Met)	NC_000002.11:g.225630550G>A	(Likely) benign	1 lab	eae96c3109
19:34904758 PDCD2L A>G	19	34904758	34904758	A	G	PDCD2L	c.797+6A>G	NM_032346.2	NP_115722.1:p.?	NC_000019.9:g.34904758A>G	(Likely) benign	1 lab	eaea51a332
10:97453635 TCTN3 G>C	10	97453635	97453635	G	C	TCTN3	c.22C>G	NM_015631.6	NP_056446.4:p.(Leu8Val)	NC_000010.10:g.97453635G>C	VUS	1 lab	eaec893831
3:121980873 CASR C>T	3	121980873	121980873	C	T	CASR	c.991C>T	NM_000388.4	NP_000379.3:p.(Arg331Trp)	NC_000003.11:g.121980873C>T	VUS	1 lab	eaed78a5fe
2:169847311 ABCB11 C>A	2	169847311	169847311	C	A	ABCB11	c.908G>T	NM_003742.4	NP_003733.2:p.(Arg303Met)	NC_000002.11:g.169847311C>A	(Likely) pathogenic	1 lab	2d8cfe5ec5
12:106903315 POLR3B G>C	12	106903315	106903315	G	C	POLR3B	c.3390G>C	NM_018082.6	NP_060552.4:p.(Lys1130Asn)	NC_000012.11:g.106903315G>C	VUS	1 lab	eaef2fad3b
11:76873281 MYO7A A>G	11	76873281	76873281	A	G	MYO7A	c.1459A>G	NM_000260.4	NP_000251.3:p.(Ile487Val)	NC_000011.9:g.76873281A>G	VUS	1 lab	eaf169482d
18:29178633 TTR G>T	18	29178633	29178633	G	T	TTR	c.439G>T	NM_000371.4	NP_000362.1:p.(Glu147Ter)	NC_000018.9:g.29178633G>T	VUS	1 lab	eaf2a2a71e
8:140998938 TRAPPC9 G>T	8	140998938	140998938	G	T	TRAPPC9	c.2806C>A	NM_001160372.4	NP_001153844.1:p.(Gln936Lys)	NC_000008.10:g.140998938G>T	VUS	1 lab	eaf538dfee
3:52437623 BAP1 G>A	3	52437623	52437623	G	A	BAP1	c.1538C>T	NM_004656.4	NP_004647.1:p.(Ser513Leu)	NC_000003.11:g.52437623G>A	VUS	1 lab	eaf59f8853
17:41242951 BRCA1 C>G	17	41242951	41242951	C	G	BRCA1	c.4185+10G>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242951C>G	(Likely) benign	1 lab	eaf83ee0a2
11:64434947 NRXN2 C>T	11	64434947	64434947	C	T	NRXN2	c.1573G>A	NM_015080.4	NP_055895.1:p.(Glu525Lys)	NC_000011.9:g.64434947C>T	VUS	1 lab	eaf9149433
2:27430385 SLC5A6 T>C	2	27430385	27430385	T	C	SLC5A6	c.134A>G	NM_021095.4	NP_066918.2:p.(Tyr45Cys)	NC_000002.11:g.27430385T>C	VUS	1 lab	eaf9da542e
1:1271559 DVL1 A>G	1	1271559	1271559	A	G	DVL1	c.2051T>C	NM_001330311.2	NP_001317240.1:p.(Met684Thr)	NC_000001.10:g.1271559A>G	(Likely) benign	1 lab	eafa5e12e9
14:51057760 ATL1 A>T	14	51057760	51057760	A	T	ATL1	c.384A>T	NM_015915.5	NP_056999.2:p.(Glu128Asp)	NC_000014.8:g.51057760A>T	VUS	1 lab	eafb683f84
5:177034310 B4GALT7 C>T	5	177034310	177034310	C	T	B4GALT7	c.421C>T	NM_007255.3	NP_009186.1:p.(Arg141Trp)	NC_000005.9:g.177034310C>T	VUS	1 lab	eafd5a9369
2:68385088 PNO1 C>G	2	68385088	68385088	C	G	PNO1	c.22C>G	NM_020143.4	NP_064528.1:p.(Gln8Glu)	NC_000002.11:g.68385088C>G	(Likely) benign	1 lab	eafddd377e
5:36115226 LMBRD2 C>A	5	36115226	36115226	C	A	LMBRD2	c.1437-4G>T	NM_001007527.2	NP_001007528.1:p.?	NC_000005.9:g.36115226C>A	(Likely) benign	1 lab	eb003ac25c
2:72362266 CYP26B1 T>C	2	72362266	72362266	T	C	CYP26B1	c.705+7A>G	NM_019885.4	NP_063938.1:p.?	NC_000002.11:g.72362266T>C	(Likely) benign	1 lab	eb02b613ef
1:152281560 FLG C>G	1	152281560	152281560	C	G	FLG	c.5802G>C	NM_002016.2	NP_002007.1:p.(Trp1934Cys)	NC_000001.10:g.152281560C>G	(Likely) benign	1 lab	eb036279d6
11:71729339 NUMA1 T>C	11	71729339	71729339	T	C	NUMA1	c.868A>G	NM_006185.4	NP_006176.2:p.(Met290Val)	NC_000011.9:g.71729339T>C	VUS	1 lab	eb038fcdc1
16:72821624 ZFHX3 GCCGCCGCCGCCAC>G	16	72821624	72821637	GCCGCCGCCGCCAC	G	ZFHX3	c.10538_10550del	NM_006885.4	NP_008816.3:p.(Ser3513ThrfsTer28)	NC_000016.9:g.72821625_72821637del	VUS	1 lab	eb03cec06f
1:3330653 PRDM16 G>A	1	3330653	3330653	G	A	PRDM16	c.2604-471G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3330653G>A	VUS	1 lab	2d8f6b3956
21:47414095 COL6A1 G>A	21	47414095	47414095	G	A	COL6A1	c.1350G>A	NM_001848.3	NP_001839.2:p.(Pro450=)	NC_000021.8:g.47414095G>A	(Likely) benign	1 lab	eb044120f1
20:43042348 HNF4A C>T	20	43042348	43042348	C	T	HNF4A	c.400C>T	NM_000457.5	NP_000448.3:p.(Arg134Trp)	NC_000020.10:g.43042348C>T	(Likely) pathogenic	1 lab	eb044365c5
14:21862764 CHD8 C>CAA	14	21862764	21862783	C	CAA	CHD8	c.5391-122_5391-121dup	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21862782_21862783dup	VUS	1 lab	eb061888b4
11:17393664 NCR3LG1 C>T	11	17393664	17393664	C	T	NCR3LG1	c.970C>T	NM_001202439.3	NP_001189368.1:p.(Arg324Trp)	NC_000011.9:g.17393664C>T	(Likely) benign	1 lab	eb068517a5
6:157528256 ARID1B C>G	6	157528256	157528256	C	G	ARID1B	c.6350C>G	NM_001374828.1	NP_001361757.1:p.(Thr2117Ser)	NC_000006.11:g.157528256C>G	(Likely) benign	1 lab	eb0692e3dd
2:219920463 IHH C>T	2	219920463	219920463	C	T	IHH	c.702G>A	NM_002181.4	NP_002172.2:p.(Glu234=)	NC_000002.11:g.219920463C>T	(Likely) benign	1 lab	eb075ca837
20:34240985 RBM12 T>A	20	34240985	34240985	T	A	RBM12	c.2260A>T	NM_006047.6	NP_006038.2:p.(Met754Leu)	NC_000020.10:g.34240985T>A	(Likely) benign	1 lab	eb08c7e5d0
1:200956049 KIF21B A>G	1	200956049	200956049	A	G	KIF21B	c.3615-3T>C	NM_017596.4	NP_060066.2:p.?	NC_000001.10:g.200956049A>G	(Likely) benign	1 lab	2d911c6cb6
1:158583632 SPTA1 G>T	1	158583632	158583632	G	T	SPTA1	c.6868C>A	NM_003126.4	NP_003117.2:p.(Arg2290Ser)	NC_000001.10:g.158583632G>T	VUS	1 lab	eb0a2080d2
20:30729687 TM9SF4 G>A	20	30729687	30729687	G	A	TM9SF4	c.517G>A	NM_014742.4	NP_055557.2:p.(Asp173Asn)	NC_000020.10:g.30729687G>A	VUS	1 lab	eb0aa720fa
1:11771945 DRAXIN C>T	1	11771945	11771945	C	T	DRAXIN	c.680C>T	NM_198545.4	NP_940947.3:p.(Thr227Met)	NC_000001.10:g.11771945C>T	VUS	1 lab	eb0adea4c6
7:97486014 ASNS G>A	7	97486014	97486014	G	A	ASNS	c.1018C>T	NM_001673.5	NP_001664.3:p.(Arg340Cys)	NC_000007.13:g.97486014G>A	VUS	1 lab	eb0b0bf358
6:51491826 PKHD1 C>A	6	51491826	51491826	C	A	PKHD1	c.11754G>T	NM_138694.4	NP_619639.3:p.(Gly3918=)	NC_000006.11:g.51491826C>A	(Likely) benign	1 lab	eb0c436f6a
1:24022818 RPL11 ATCTCT>A	1	24022818	24022829	ATCTCT	A	RPL11	c.508-9_508-5del	NM_000975.5	NP_000966.2:p.?	NC_000001.10:g.24022825_24022829del	VUS	1 lab	eb0c860e99
16:2110823 TSC2 G>C	16	2110823	2110823	G	C	TSC2	c.1119+9G>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2110823G>C	(Likely) benign	1 lab	eb0ee61e98
4:1808956 FGFR3 G>A	4	1808956	1808956	G	A	FGFR3	c.2388G>A	NM_000142.5	NP_000133.1:p.(Pro796=)	NC_000004.11:g.1808956G>A	(Likely) benign	1 lab	eb0eff2cf7
20:62039764 KCNQ2 A>T	20	62039764	62039764	A	T	KCNQ2	c.1887+2T>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62039764A>T	(Likely) pathogenic	1 lab	304dcbb61e
9:98775454 ERCC6L2 A>G	9	98775454	98775454	A	G	ERCC6L2	c.4622A>G	NM_020207.7	NP_064592.3:p.(Glu1541Gly)	NC_000009.11:g.98775454A>G	VUS	1 lab	eb0f355c24
3:13860727 WNT7A T>C	3	13860727	13860727	T	C	WNT7A	c.764A>G	NM_004625.4	NP_004616.2:p.(Lys255Arg)	NC_000003.11:g.13860727T>C	VUS	1 lab	eb10fc0df6
16:23392086 SCNN1B C>T	16	23392086	23392086	C	T	SCNN1B	c.1887C>T	NM_000336.3	NP_000327.2:p.(Asp629=)	NC_000016.9:g.23392086C>T	(Likely) benign	1 lab	3772783aca
2:210742763 UNC80 C>T	2	210742763	210742763	C	T	UNC80	c.3926C>T	NM_001371986.1	NP_001358915.1:p.(Thr1309Ile)	NC_000002.11:g.210742763C>T	(Likely) benign	1 lab	eb13dfad82
10:79769437 POLR3A A>AG	10	79769437	79769444	A	AG	POLR3A	c.1771-5dup	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769444dup	(Likely) benign	1 lab	eb14500c14
9:140570960 EHMT1 G>GA	9	140570960	140570961	G	GA	EHMT1	c.22-34459_22-34458insA	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140570960_140570961insA	(Likely) benign	1 lab	eb15a67879
8:144946659 EPPK1 C>T	8	144946659	144946659	C	T	EPPK1	c.763G>A	NM_031308.4	NP_112598.3:p.(Glu255Lys)	NC_000008.10:g.144946659C>T	(Likely) benign	1 lab	eb1a874fff
9:731164 KANK1 C>T	9	731164	731164	C	T	KANK1	c.2903C>T	NM_015158.5	NP_055973.2:p.(Thr968Ile)	NC_000009.11:g.731164C>T	VUS	1 lab	eb1b8f0863
2:231865205 SPATA3 G>T	2	231865205	231865205	G	T	SPATA3	c.426G>T	NM_139073.5	NP_620712.2:p.(Trp142Cys)	NC_000002.11:g.231865205G>T	VUS	1 lab	eb1c28ea99
4:2826422 SH3BP2 T>C	4	2826422	2826422	T	C	SH3BP2	c.322T>C	NM_001122681.2	NP_001116153.1:p.(Trp108Arg)	NC_000004.11:g.2826422T>C	VUS	1 lab	eb1de31767
3:47888916 DHX30 T>C	3	47888916	47888916	T	C	DHX30	c.2006-6T>C	NM_138615.3	NP_619520.1:p.?	NC_000003.11:g.47888916T>C	(Likely) benign	1 lab	eb1e946299
7:152099227 KMT2C C>A	7	152099227	152099227	C	A	KMT2C	c.161+33484G>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099227C>A	(Likely) benign	1 lab	eb2100035b
4:3451018 HGFAC G>A	4	3451018	3451018	G	A	HGFAC	c.1840G>A	NM_001528.4	NP_001519.1:p.(Gly614Ser)	NC_000004.11:g.3451018G>A	VUS	1 lab	eb211b4866
17:62018931 SCN4A G>A	17	62018931	62018931	G	A	SCN4A	c.4711C>T	NM_000334.4	NP_000325.4:p.(Pro1571Ser)	NC_000017.10:g.62018931G>A	VUS	1 lab	eb21c01b1f
1:1455923 ATAD3A C>T	1	1455923	1455923	C	T	ATAD3A	c.681-5C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1455923C>T	(Likely) benign	1 lab	eb22b618d1
3:45972379 FYCO1 C>A	3	45972379	45972379	C	A	FYCO1	c.4251+184G>T	NM_024513.4	NP_078789.2:p.?	NC_000003.11:g.45972379C>A	VUS	1 lab	eb24125410
1:67705900 IL23R G>A	1	67705900	67705900	G	A	IL23R	c.1084G>A	NM_144701.3	NP_653302.2:p.(Val362Ile)	NC_000001.10:g.67705900G>A	(Likely) benign	1 lab	304e74e92b
5:13842018 DNAH5 GT>G	5	13842018	13842020	GT	G	DNAH5	c.5272-6del	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13842020del	(Likely) benign	1 lab	eb3c976943
16:86600969 FOXC2 C>A	16	86600969	86600969	C	A	FOXC2	c.28C>A	NM_005251.3	NP_005242.1:p.(Pro10Thr)	NC_000016.9:g.86600969C>A	VUS	1 lab	eb3d706165
9:140622928 EHMT1 A>C	9	140622928	140622928	A	C	EHMT1	c.770A>C	NM_024757.5	NP_079033.4:p.(His257Pro)	NC_000009.11:g.140622928A>C	(Likely) benign	1 lab	eb3e1435e2
12:121426838 HNF1A A>G	12	121426838	121426838	A	G	HNF1A	c.526+3A>G	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426838A>G	VUS	1 lab	eb27ba2a3b
6:35216444 SCUBE3 C>T	6	35216444	35216444	C	T	SCUBE3	c.2944C>T	NM_152753.4	NP_689966.2:p.(Arg982Cys)	NC_000006.11:g.35216444C>T	VUS	1 lab	eb27f1e8ab
7:128481211 FLNC C>A	7	128481211	128481211	C	A	FLNC	c.1814-13C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481211C>A	VUS	1 lab	eb2b7a2689
16:83945964 MLYCD G>T	16	83945964	83945964	G	T	MLYCD	c.940G>T	NM_012213.3	NP_036345.2:p.(Glu314Ter)	NC_000016.9:g.83945964G>T	(Likely) pathogenic	1 lab	eb2bc65c8d
17:42941149 EFTUD2 G>A	17	42941149	42941149	G	A	EFTUD2	c.1287C>T	NM_004247.4	NP_004238.3:p.(Gly429=)	NC_000017.10:g.42941149G>A	VUS	1 lab	eb2d210914
21:10942747 TPTE T>C	21	10942747	10942747	T	C	TPTE	c.694A>G	NM_199261.4	NP_954870.3:p.(Arg232Gly)	NC_000021.8:g.10942747T>C	VUS	1 lab	eb2e7d9082
1:45163858 ARMH1 G>A	1	45163858	45163858	G	A	ARMH1	c.399G>A	NM_001145636.2	NP_001139108.1:p.(Ala133=)	NC_000001.10:g.45163858G>A	VUS	1 lab	eb306faa1d
3:9512526 SETD5 C>A	3	9512526	9512526	C	A	SETD5	c.3108C>A	NM_001080517.3	NP_001073986.1:p.(Asp1036Glu)	NC_000003.11:g.9512526C>A	(Likely) benign	1 lab	eb31f2b347
7:55991312 ZNF713 G>A	7	55991312	55991312	G	A	ZNF713	c.227G>A	NM_182633.3	NP_872439.2:p.(Cys76Tyr)	NC_000007.13:g.55991312G>A	(Likely) benign	1 lab	eb38b7f2a3
15:75652297 MAN2C1 A>G	15	75652297	75652297	A	G	MAN2C1	c.1739T>C	NM_006715.4	NP_006706.2:p.(Val580Ala)	NC_000015.9:g.75652297A>G	VUS	1 lab	eb3bca8456
X:134887266 CT45A3 C>T	X	134887266	134887266	C	T	CT45A3	c.34C>T	NM_001370148.2	NP_001357077.1:p.(Pro12Ser)	NC_000023.10:g.134887266C>T	(Likely) benign	1 lab	eb3bfb7ad3
2:179418662 TTN A>G	2	179418662	179418662	A	G	TTN	c.89176T>C	NM_001267550.2	NP_001254479.2:p.(Tyr29726His)	NC_000002.11:g.179418662A>G	VUS	1 lab	2d947014f7
16:343685 AXIN1 C>A	16	343685	343685	C	A	AXIN1	c.1989G>T	NM_003502.4	NP_003493.1:p.(Glu663Asp)	NC_000016.9:g.343685C>A	(Likely) benign	1 lab	eb4230ef4a
X:54783691 ITIH6 C>T	X	54783691	54783691	C	T	ITIH6	c.2816G>A	NM_198510.3	NP_940912.1:p.(Arg939Lys)	NC_000023.10:g.54783691C>T	(Likely) benign	1 lab	eb42465917
1:12010406 PLOD1 G>A	1	12010406	12010406	G	A	PLOD1	c.303-8G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12010406G>A	VUS	1 lab	eb43e77711
22:42607611 TCF20 C>G	22	42607611	42607611	C	G	TCF20	c.3701G>C	NM_001378418.1	NP_001365347.1:p.(Ser1234Thr)	NC_000022.10:g.42607611C>G	(Likely) benign	1 lab	eb445ca556
11:125885175 CDON C>A	11	125885175	125885175	C	A	CDON	c.1159G>T	NM_001378964.1	NP_001365893.1:p.(Gly387Ter)	NC_000011.9:g.125885175C>A	VUS	1 lab	eb45e837df
11:67767137 UNC93B1 T>C	11	67767137	67767137	T	C	UNC93B1	c.406A>G	NM_030930.2	NP_112192.2:p.(Lys136Glu)	NC_000011.9:g.67767137T>C	VUS	1 lab	3050a91606
1:209964095 IRF6 C>T	1	209964095	209964095	C	T	IRF6	c.805G>A	NM_006147.4	NP_006138.1:p.(Val269Ile)	NC_000001.10:g.209964095C>T	(Likely) benign	1 lab	eb47a91a11
2:223161717 PAX3 T>C	2	223161717	223161717	T	C	PAX3	c.301A>G	NM_181458.4	NP_852123.1:p.(Ile101Val)	NC_000002.11:g.223161717T>C	VUS	1 lab	eb4b03a8b9
2:152520374 NEB C>T	2	152520374	152520374	C	T	NEB	c.5452-1G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152520374C>T	(Likely) pathogenic	1 lab	eb4e11cbb0
5:121413581 LOX C>G	5	121413581	121413581	C	G	LOX	c.100G>C	NM_002317.7	NP_002308.2:p.(Glu34Gln)	NC_000005.9:g.121413581C>G	VUS	1 lab	eb4faf6397
10:124273783 HTRA1 G>A	10	124273783	124273783	G	A	HTRA1	c.1351G>A	NM_002775.5	NP_002766.1:p.(Val451Ile)	NC_000010.10:g.124273783G>A	VUS	1 lab	eb50deafd0
1:100340963 AGL A>G	1	100340963	100340963	A	G	AGL	c.1235A>G	NM_000642.3	NP_000633.2:p.(His412Arg)	NC_000001.10:g.100340963A>G	VUS	1 lab	eb50ebe0d3
2:163124769 IFIH1 G>A	2	163124769	163124769	G	A	IFIH1	c.2635C>T	NM_022168.4	NP_071451.2:p.(Gln879Ter)	NC_000002.11:g.163124769G>A	VUS	1 lab	eb50ebf76f
12:4383346 CCND2 T>C	12	4383346	4383346	T	C	CCND2	c.140T>C	NM_001759.4	NP_001750.1:p.(Val47Ala)	NC_000012.11:g.4383346T>C	VUS	1 lab	eb53425031
10:102765310 LZTS2 G>GCTGCTGCAGCTGCAGGTGTTC	10	102765310	102765332	G	GCTGCTGCAGCTGCAGGTGTTC	LZTS2	c.1166_1186dup	NM_001318100.2	NP_001305029.1:p.(Leu389_Phe395dup)	NC_000010.10:g.102765312_102765332dup	VUS	1 lab	eb5353dfc9
16:1256294 CACNA1H G>A	16	1256294	1256294	G	A	CACNA1H	c.2789+5G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1256294G>A	VUS	1 lab	eb5396d44a
5:156531741 HAVCR2 C>A	5	156531741	156531741	C	A	HAVCR2	c.414G>T	NM_032782.5	NP_116171.3:p.(Pro138=)	NC_000005.9:g.156531741C>A	VUS	1 lab	eb53fb2dd6
1:224544654 CNIH4 C>T	1	224544654	224544654	C	T	CNIH4	c.28C>T	NM_014184.4	NP_054903.1:p.(Leu10Phe)	NC_000001.10:g.224544654C>T	(Likely) benign	1 lab	eb5613ea6b
13:32944985 BRCA2 C>T	13	32944985	32944985	C	T	BRCA2	c.8488-108C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944985C>T	(Likely) benign	1 lab	30561db72c
X:91542987 PCDH11X C>T	X	91542987	91542987	C	T	PCDH11X	c.3144+24845C>T	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91542987C>T	(Likely) benign	1 lab	eb578c12fb
X:6451932 VCX3A CGCTCTCCTGACTCAGTGGTTCCTCCACCTG>C	X	6451932	6451983	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	C	VCX3A	c.385_414del	NM_016379.4	NP_057463.2:p.(Gln129_Ser138del)	NC_000023.10:g.6451954_6451983del	(Likely) benign	1 lab	eb583dc060
16:30747877 SRCAP C>T	16	30747877	30747877	C	T	SRCAP	c.6940C>T	NM_006662.3	NP_006653.2:p.(Arg2314Cys)	NC_000016.9:g.30747877C>T	(Likely) benign	1 lab	eb5895a317
2:179399923 TTN CT>C	2	179399923	179399926	CT	C	TTN	c.101418del	NM_001267550.2	NP_001254479.2:p.(Ala33807HisfsTer14)	NC_000002.11:g.179399926del	(Likely) pathogenic	1 lab	2d95209fac
1:17609384 PADI3 C>G	1	17609384	17609384	C	G	PADI3	c.1805C>G	NM_016233.2	NP_057317.2:p.(Pro602Arg)	NC_000001.10:g.17609384C>G	VUS	1 lab	eb5aa025e3
15:91435954 FES G>T	15	91435954	91435954	G	T	FES	c.1725G>T	NM_002005.4	NP_001996.1:p.(Val575=)	NC_000015.9:g.91435954G>T	(Likely) benign	1 lab	eb5ae9928e
15:60850469 RORA CTG>C	15	60850469	60850471	CTG	C	RORA	c.197-26421_197-26420del	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60850470_60850471del	VUS	1 lab	eb5c61c2fd
X:77244861 ATP7A G>C	X	77244861	77244861	G	C	ATP7A	c.743G>C	NM_000052.7	NP_000043.4:p.(Gly248Ala)	NC_000023.10:g.77244861G>C	VUS	1 lab	eb5d768ef5
15:43579479 TGM7 G>A	15	43579479	43579479	G	A	TGM7	c.864C>T	NM_052955.3	NP_443187.1:p.(Thr288=)	NC_000015.9:g.43579479G>A	(Likely) benign	1 lab	eb5ef7c165
3:46904867 MYL3 T>C	3	46904867	46904867	T	C	MYL3	c.14A>G	NM_000258.2	NP_000249.1:p.(Lys5Arg)	NC_000003.11:g.46904867T>C	VUS	1 lab	30586fedb9
3:124457057 UMPS T>C	3	124457057	124457057	T	C	UMPS	c.953T>C	NM_000373.4	NP_000364.1:p.(Ile318Thr)	NC_000003.11:g.124457057T>C	VUS	1 lab	eb61b7bd90
8:145542119 DGAT1 C>T	8	145542119	145542119	C	T	DGAT1	c.574+5G>A	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145542119C>T	VUS	1 lab	eb62884728
20:16354901 KIF16B C>A	20	16354901	16354901	C	A	KIF16B	c.3350+1G>T	NM_024704.5	NP_078980.3:p.?	NC_000020.10:g.16354901C>A	VUS	1 lab	eb656aa50b
3:4704843 ITPR1 A>G	3	4704843	4704843	A	G	ITPR1	c.1507A>G	NM_001378452.1	NP_001365381.1:p.(Asn503Asp)	NC_000003.11:g.4704843A>G	VUS	1 lab	eb65ab1a8a
12:53207583 KRT4 C>CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	12	53207583	53207603	C	CCACCAAAGCCACCAGTGCCGAAACCAGCTCCGAAGCCGCCGG	KRT4	c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG	NM_002272.4	NP_002263.3:p.(Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)	NC_000012.11:g.53207602_53207603insGAAACCAGCTCCGAAGCCGCCGGCACCAAAGCCACCAGTGCC	(Likely) benign	1 lab	eb6627369a
2:145156257 ZEB2 T>C	2	145156257	145156257	T	C	ZEB2	c.2497A>G	NM_014795.4	NP_055610.1:p.(Thr833Ala)	NC_000002.11:g.145156257T>C	VUS	1 lab	eb66ed4f83
4:76481497 ODAPH A>G	4	76481497	76481497	A	G	ODAPH	c.67+138A>G	NM_001206981.2	NP_001193910.1:p.?	NC_000004.11:g.76481497A>G	(Likely) benign	1 lab	305b2217dd
4:157999302 GLRB T>A	4	157999302	157999302	T	A	GLRB	c.122+4T>A	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.157999302T>A	(Likely) benign	1 lab	305c929706
7:128528919 KCP T>C	7	128528919	128528919	T	C	KCP	c.2510A>G	NM_001366122.1	NP_001353051.1:p.(Gln837Arg)	NC_000007.13:g.128528919T>C	VUS	1 lab	eb6a2e9c9f
9:117002539 COL27A1 C>T	9	117002539	117002539	C	T	COL27A1	c.2767C>T	NM_032888.4	NP_116277.2:p.(Pro923Ser)	NC_000009.11:g.117002539C>T	VUS	1 lab	eb6c58eb10
9:117052377 COL27A1 C>T	9	117052377	117052377	C	T	COL27A1	c.4246C>T	NM_032888.4	NP_116277.2:p.(Arg1416Trp)	NC_000009.11:g.117052377C>T	VUS	1 lab	eb6f60ecfe
16:89347980 ANKRD11 G>A	16	89347980	89347980	G	A	ANKRD11	c.4970C>T	NM_013275.6	NP_037407.4:p.(Ser1657Leu)	NC_000016.9:g.89347980G>A	VUS	1 lab	eb6f89aabe
19:11217246 LDLR GC>G	19	11217246	11217248	GC	G	LDLR	c.702del	NM_000527.5	NP_000518.1:p.(Thr235ProfsTer30)	NC_000019.9:g.11217248del	(Likely) pathogenic	1 lab	2d9795887b
2:88874854 EIF2AK3 G>A	2	88874854	88874854	G	A	EIF2AK3	c.2147C>T	NM_004836.7	NP_004827.4:p.(Pro716Leu)	NC_000002.11:g.88874854G>A	(Likely) benign	1 lab	eb702dbec8
3:113524344 ATP6V1A T>C	3	113524344	113524344	T	C	ATP6V1A	c.1733T>C	NM_001690.4	NP_001681.2:p.(Leu578Pro)	NC_000003.11:g.113524344T>C	VUS	1 lab	eb72d8c494
2:189875414 COL3A1 A>G	2	189875414	189875414	A	G	COL3A1	c.4052A>G	NM_000090.4	NP_000081.2:p.(Asp1351Gly)	NC_000002.11:g.189875414A>G	VUS	1 lab	eb72fcb360
X:46943954 RGN C>T	X	46943954	46943954	C	T	RGN	c.301C>T	NM_152869.4	NP_690608.1:p.(Arg101Cys)	NC_000023.10:g.46943954C>T	VUS	1 lab	eb73bd48ba
6:118803081 CEP85L C>A	6	118803081	118803081	C	A	CEP85L	c.1606G>T	NM_001042475.3	NP_001035940.1:p.(Glu536Ter)	NC_000006.11:g.118803081C>A	VUS	1 lab	eb741d6a0e
14:20852618 TEP1 C>T	14	20852618	20852618	C	T	TEP1	c.3271G>A	NM_007110.5	NP_009041.2:p.(Gly1091Arg)	NC_000014.8:g.20852618C>T	(Likely) benign	1 lab	eb7830d68c
7:75612914 POR C>T	7	75612914	75612914	C	T	POR	c.907C>T	NM_000941.3	NP_000932.3:p.(Leu303Phe)	NC_000007.13:g.75612914C>T	(Likely) benign	1 lab	eb793aefea
14:51410969 PYGL G>A	14	51410969	51410969	G	A	PYGL	c.153C>T	NM_002863.5	NP_002854.3:p.(Asp51=)	NC_000014.8:g.51410969G>A	(Likely) benign	1 lab	eb796be0f6
17:11532904 DNAH9 A>G	17	11532904	11532904	A	G	DNAH9	c.1518+3A>G	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11532904A>G	VUS	1 lab	eb7972d9df
14:95056451 SERPINA5 G>A	14	95056451	95056451	G	A	SERPINA5	c.693G>A	NM_000624.6	NP_000615.3:p.(Val231=)	NC_000014.8:g.95056451G>A	VUS	1 lab	eb7b0e5b63
16:3632589 SLX4 G>A	16	3632589	3632589	G	A	SLX4	c.5259C>T	NM_032444.4	NP_115820.2:p.(Asp1753=)	NC_000016.9:g.3632589G>A	(Likely) benign	1 lab	eb7b9f57a9
18:19119974 ESCO1 GATAT>G	18	19119974	19119993	GATAT	G	ESCO1	c.1954-8_1954-5del	NM_052911.3	NP_443143.2:p.?	NC_000018.9:g.19119990_19119993del	VUS	1 lab	eb7d0fcd86
4:126372354 FAT4 G>A	4	126372354	126372354	G	A	FAT4	c.10189G>A	NM_001291303.3	NP_001278232.1:p.(Val3397Met)	NC_000004.11:g.126372354G>A	VUS	1 lab	eb7d61db86
5:168098331 SLIT3 C>T	5	168098331	168098331	C	T	SLIT3	c.3999G>A	NM_003062.3	NP_003053.1:p.(Lys1333=)	NC_000005.9:g.168098331C>T	(Likely) benign	1 lab	305d5ffa6c
1:94495134 ABCA4 T>G	1	94495134	94495134	T	G	ABCA4	c.4406A>C	NM_000350.3	NP_000341.2:p.(Asn1469Thr)	NC_000001.10:g.94495134T>G	VUS	1 lab	eb7ec6daa5
1:92729234 GLMN A>G	1	92729234	92729234	A	G	GLMN	c.1355T>C	NM_053274.3	NP_444504.1:p.(Leu452Ser)	NC_000001.10:g.92729234A>G	VUS	1 lab	eb7fe47cc6
17:27064689 NEK8 G>T	17	27064689	27064689	G	T	NEK8	c.828-4G>T	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27064689G>T	(Likely) benign	1 lab	eb805a4b5d
6:38820493 DNAH8 C>A	6	38820493	38820493	C	A	DNAH8	c.5490C>A	NM_001206927.2	NP_001193856.1:p.(Asp1830Glu)	NC_000006.11:g.38820493C>A	(Likely) benign	1 lab	eb82877f2f
3:112732878 RMP64 A>G	3	112732878	112732878	A	G	RMP64	c.263T>C	NM_015412.4	NP_056227.2:p.(Val88Ala)	NC_000003.11:g.112732878A>G	VUS	1 lab	eb82974772
12:103260378 PAH G>C	12	103260378	103260378	G	C	PAH	c.505C>G	NM_000277.3	NP_000268.1:p.(Arg169Gly)	NC_000012.11:g.103260378G>C	VUS	1 lab	305e32ac3e
2:170081888 LRP2 T>C	2	170081888	170081888	T	C	LRP2	c.5470A>G	NM_004525.3	NP_004516.2:p.(Met1824Val)	NC_000002.11:g.170081888T>C	(Likely) benign	1 lab	eb84041abb
6:33406668 SYNGAP1 G>C	6	33406668	33406668	G	C	SYNGAP1	c.1648G>C	NM_006772.3	NP_006763.2:p.(Ala550Pro)	NC_000006.11:g.33406668G>C	VUS	1 lab	eb84bbedc4
10:124221250 HTRA1 G>A	10	124221250	124221250	G	A	HTRA1	c.82G>A	NM_002775.5	NP_002766.1:p.(Gly28Ser)	NC_000010.10:g.124221250G>A	(Likely) benign	1 lab	eb84e89522
17:61995447 GH1 G>A	17	61995447	61995447	G	A	GH1	c.221C>T	NM_000515.5	NP_000506.2:p.(Pro74Leu)	NC_000017.10:g.61995447G>A	VUS	1 lab	eb852467c1
6:51619591 PKHD1 G>A	6	51619591	51619591	G	A	PKHD1	c.8788C>T	NM_138694.4	NP_619639.3:p.(Arg2930Trp)	NC_000006.11:g.51619591G>A	VUS	1 lab	2d98b82ff5
11:102816476 MMP13 T>C	11	102816476	102816476	T	C	MMP13	c.1214A>G	NM_002427.4	NP_002418.1:p.(Tyr405Cys)	NC_000011.9:g.102816476T>C	VUS	1 lab	eb897c180d
2:48040968 FBXO11 C>T	2	48040968	48040968	C	T	FBXO11	c.2045G>A	NM_001190274.2	NP_001177203.1:p.(Trp682Ter)	NC_000002.11:g.48040968C>T	(Likely) pathogenic	1 lab	eb8be56b88
17:79991701 RAC3 T>C	17	79991701	79991701	T	C	RAC3	c.575T>C	NM_005052.3	NP_005043.1:p.(Phe192Ser)	NC_000017.10:g.79991701T>C	(Likely) benign	1 lab	2d9a410f95
X:63412940 AMER1 C>T	X	63412940	63412940	C	T	AMER1	c.227G>A	NM_152424.4	NP_689637.3:p.(Gly76Glu)	NC_000023.10:g.63412940C>T	VUS	1 lab	eb8d35ce54
X:106846460 FRMPD3 C>CAGT	X	106846460	106846463	C	CAGT	FRMPD3	c.5193_5194insTAG	NM_001388459.1	NP_001375388.1:p.(Gln1732Ter)	NC_000023.10:g.106846462_106846463insTAG	VUS	1 lab	eb93d5c069
14:21762877 RPGRIP1 C>T	14	21762877	21762877	C	T	RPGRIP1	c.127C>T	NM_020366.4	NP_065099.3:p.(Arg43Trp)	NC_000014.8:g.21762877C>T	VUS	1 lab	eb940a5640
2:197199210 HECW2 C>T	2	197199210	197199210	C	T	HECW2	c.433G>A	NM_001348768.2	NP_001335697.1:p.(Gly145Ser)	NC_000002.11:g.197199210C>T	VUS	1 lab	eb9721da5c
4:3107081 HTT C>T	4	3107081	3107081	C	T	HTT	c.535-3C>T	NM_002111.8	NP_002102.4:p.?	NC_000004.11:g.3107081C>T	(Likely) benign	1 lab	2d9a6198e4
X:77387250 TAF9B G>C	X	77387250	77387250	G	C	TAF9B	c.613C>G	NM_015975.5	NP_057059.2:p.(Gln205Glu)	NC_000023.10:g.77387250G>C	(Likely) benign	1 lab	eb97c86945
2:201440070 SGO2 T>C	2	201440070	201440070	T	C	SGO2	c.3668T>C	NM_152524.6	NP_689737.4:p.(Phe1223Ser)	NC_000002.11:g.201440070T>C	VUS	1 lab	eb9bda07f3
12:56559114 SMARCC2 G>C	12	56559114	56559114	G	C	SMARCC2	c.3220C>G	NM_001330288.2	NP_001317217.1:p.(Pro1074Ala)	NC_000012.11:g.56559114G>C	(Likely) benign	1 lab	eb9dd210ce
3:123366221 MYLK C>A	3	123366221	123366221	C	A	MYLK	c.4469G>T	NM_053025.4	NP_444253.3:p.(Trp1490Leu)	NC_000003.11:g.123366221C>A	(Likely) benign	1 lab	eba10a8561
14:74995341 LTBP2 C>T	14	74995341	74995341	C	T	LTBP2	c.2213G>A	NM_000428.3	NP_000419.1:p.(Arg738His)	NC_000014.8:g.74995341C>T	VUS	1 lab	ebfdc88bf6
4:56885668 CEP135 G>C	4	56885668	56885668	G	C	CEP135	c.3162G>C	NM_025009.5	NP_079285.2:p.(Lys1054Asn)	NC_000004.11:g.56885668G>C	(Likely) benign	1 lab	eba2cbc352
6:34857302 ANKS1A G>GGGCGGC	6	34857302	34857317	G	GGGCGGC	ANKS1A	c.133_138dup	NM_015245.3	NP_056060.2:p.(Gly45_Gly46dup)	NC_000006.11:g.34857312_34857317dup	VUS	1 lab	eba2f17b73
5:131925479 RAD50 G>A	5	131925479	131925479	G	A	RAD50	c.1402G>A	NM_005732.4	NP_005723.2:p.(Glu468Lys)	NC_000005.9:g.131925479G>A	VUS	1 lab	eba3b64f1c
6:17629183 NUP153 A>G	6	17629183	17629183	A	G	NUP153	c.3247T>C	NM_005124.4	NP_005115.2:p.(Ser1083Pro)	NC_000006.11:g.17629183A>G	VUS	1 lab	eba40aa320
17:10538165 MYH3 A>C	17	10538165	10538165	A	C	MYH3	c.4348T>G	NM_002470.4	NP_002461.2:p.(Phe1450Val)	NC_000017.10:g.10538165A>C	VUS	1 lab	eba450fe8d
11:118967931 DPAGT1 ATGT>A	11	118967931	118967938	ATGT	A	DPAGT1	c.1079_1081del	NM_001382.4	NP_001373.2:p.(Asn360del)	NC_000011.9:g.118967936_118967938del	VUS	1 lab	eba551ff67
19:43702142 PSG4 T>C	19	43702142	43702142	T	C	PSG4	c.709+7A>G	NM_002780.5	NP_002771.2:p.?	NC_000019.9:g.43702142T>C	(Likely) benign	1 lab	eba6676201
13:52508971 ATP7B C>T	13	52508971	52508971	C	T	ATP7B	c.4319G>A	NM_000053.4	NP_000044.2:p.(Arg1440Gln)	NC_000013.10:g.52508971C>T	VUS	1 lab	eba7b3b972
2:73675581 ALMS1 G>A	2	73675581	73675581	G	A	ALMS1	c.1927G>A	NM_001378454.1	NP_001365383.1:p.(Glu643Lys)	NC_000002.11:g.73675581G>A	(Likely) benign	1 lab	ebaa388045
15:99500490 IGF1R C>T	15	99500490	99500490	C	T	IGF1R	c.3923C>T	NM_000875.5	NP_000866.1:p.(Ser1308Leu)	NC_000015.9:g.99500490C>T	(Likely) benign	1 lab	ebab75c9ea
4:4199037 OTOP1 G>C	4	4199037	4199037	G	C	OTOP1	c.1524C>G	NM_177998.3	NP_819056.1:p.(Ser508Arg)	NC_000004.11:g.4199037G>C	(Likely) benign	1 lab	ebacb71393
X:11316952 AMELX GC>G	X	11316952	11316954	GC	G	AMELX	c.431del	NM_001142.2	NP_001133.1:p.(Pro144HisfsTer31)	NC_000023.10:g.11316954del	VUS	1 lab	ebae6eb394
11:124747466 ROBO3 GCC>G	11	124747466	124747470	GCC	G	ROBO3	c.2901_2902del	NM_022370.4	NP_071765.2:p.(His968ProfsTer17)	NC_000011.9:g.124747469_124747470del	(Likely) pathogenic	1 lab	ebae966f87
11:89070674 NOX4 C>T	11	89070674	89070674	C	T	NOX4	c.1456G>A	NM_016931.5	NP_058627.2:p.(Glu486Lys)	NC_000011.9:g.89070674C>T	VUS	1 lab	ebb02b320a
2:73829348 ALMS1 C>T	2	73829348	73829348	C	T	ALMS1	c.12151C>T	NM_001378454.1	NP_001365383.1:p.(Arg4051Cys)	NC_000002.11:g.73829348C>T	VUS	1 lab	ebb039c17d
1:223949314 CAPN2 G>C	1	223949314	223949314	G	C	CAPN2	c.1561G>C	NM_001748.5	NP_001739.3:p.(Glu521Gln)	NC_000001.10:g.223949314G>C	(Likely) benign	1 lab	ebb09fc2e9
17:80045881 FASN C>T	17	80045881	80045881	C	T	FASN	c.2815G>A	NM_004104.5	NP_004095.4:p.(Glu939Lys)	NC_000017.10:g.80045881C>T	(Likely) benign	1 lab	ebb18ea3de
20:57599016 TUBB1 T>A	20	57599016	57599016	T	A	TUBB1	c.534T>A	NM_030773.3	NP_110400.1:p.(Thr178=)	NC_000020.10:g.57599016T>A	(Likely) benign	1 lab	306023005b
15:31358419 TRPM1 G>A	15	31358419	31358419	G	A	TRPM1	c.650C>T	NM_001252024.2	NP_001238953.1:p.(Pro217Leu)	NC_000015.9:g.31358419G>A	VUS	1 lab	ebb3ce6502
14:79270060 NRXN3 G>A	14	79270060	79270060	G	A	NRXN3	c.2142G>A	NM_001330195.2	NP_001317124.1:p.(Met714Ile)	NC_000014.8:g.79270060G>A	(Likely) benign	1 lab	ebb70952a8
X:149013698 MAGEA8 C>T	X	149013698	149013698	C	T	MAGEA8	c.652C>T	NM_005364.5	NP_005355.2:p.(Arg218Cys)	NC_000023.10:g.149013698C>T	VUS	1 lab	ebb7e41091
1:2235549 SKI T>A	1	2235549	2235549	T	A	SKI	c.1474+8T>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2235549T>A	(Likely) benign	1 lab	ebb80f239e
15:91456224 MAN2A2 G>C	15	91456224	91456224	G	C	MAN2A2	c.2584+3G>C	NM_006122.4	NP_006113.2:p.?	NC_000015.9:g.91456224G>C	(Likely) benign	1 lab	ebb8fff766
2:200246474 SATB2 A>T	2	200246474	200246474	A	T	SATB2	c.416T>A	NM_001172509.2	NP_001165980.1:p.(Val139Glu)	NC_000002.11:g.200246474A>T	(Likely) pathogenic	1 lab	ebba9655ef
X:100093290 CSTF2 G>T	X	100093290	100093290	G	T	CSTF2	c.1674G>T	NM_001325.3	NP_001316.1:p.(Glu558Asp)	NC_000023.10:g.100093290G>T	(Likely) benign	1 lab	ebbb382599
11:128840878 ARHGAP32 G>C	11	128840878	128840878	G	C	ARHGAP32	c.4230C>G	NM_001378024.1	NP_001364953.1:p.(His1410Gln)	NC_000011.9:g.128840878G>C	VUS	1 lab	ebbbd7abbb
X:15381441 VEGFD G>A	X	15381441	15381441	G	A	VEGFD	c.91C>T	NM_004469.5	NP_004460.1:p.(Arg31Ter)	NC_000023.10:g.15381441G>A	VUS	1 lab	ebbc027bbe
11:71907009 FOLR1 C>G	11	71907009	71907009	C	G	FOLR1	c.562C>G	NM_016725.3	NP_057937.1:p.(Leu188Val)	NC_000011.9:g.71907009C>G	(Likely) pathogenic	1 lab	3061ef0366
15:51828929 DMXL2 C>A	15	51828929	51828929	C	A	DMXL2	c.1748G>T	NM_001378457.1	NP_001365386.1:p.(Gly583Val)	NC_000015.9:g.51828929C>A	VUS	1 lab	ebbe6b4602
X:49075407 CACNA1F T>C	X	49075407	49075407	T	C	CACNA1F	c.2674-7A>G	NM_001256789.3	NP_001243718.1:p.?	NC_000023.10:g.49075407T>C	(Likely) benign	1 lab	ebbf6c7fe0
X:83141579 CYLC1 A>G	X	83141579	83141579	A	G	CYLC1	c.1943A>G	NM_021118.3	NP_066941.1:p.(His648Arg)	NC_000023.10:g.83141579A>G	(Likely) benign	1 lab	ebc081d5e3
16:1840900 IGFALS G>A	16	1840900	1840900	G	A	IGFALS	c.1519C>T	NM_004970.3	NP_004961.1:p.(Arg507Trp)	NC_000016.9:g.1840900G>A	VUS	1 lab	ebc0b7dbb1
21:45518308 TRAPPC10 G>A	21	45518308	45518308	G	A	TRAPPC10	c.3239G>A	NM_003274.5	NP_003265.3:p.(Cys1080Tyr)	NC_000021.8:g.45518308G>A	VUS	1 lab	ebc0feb2e4
6:169053849 SMOC2 T>A	6	169053849	169053849	T	A	SMOC2	c.1226T>A	NM_001166412.2	NP_001159884.1:p.(Leu409Gln)	NC_000006.11:g.169053849T>A	VUS	1 lab	ebc15aa368
10:75393821 MYOZ1 C>G	10	75393821	75393821	C	G	MYOZ1	c.505G>C	NM_021245.4	NP_067068.1:p.(Asp169His)	NC_000010.10:g.75393821C>G	VUS	1 lab	2d9d448d07
3:52548194 STAB1 C>T	3	52548194	52548194	C	T	STAB1	c.3511C>T	NM_015136.3	NP_055951.2:p.(Arg1171Cys)	NC_000003.11:g.52548194C>T	(Likely) benign	1 lab	ebc36bd0fa
2:211476895 CPS1 T>G	2	211476895	211476895	T	G	CPS1	c.2446T>G	NM_001875.5	NP_001866.2:p.(Cys816Gly)	NC_000002.11:g.211476895T>G	VUS	1 lab	ebc4e0bb5a
5:176637085 NSD1 A>C	5	176637085	176637085	A	C	NSD1	c.1685A>C	NM_022455.5	NP_071900.2:p.(Asn562Thr)	NC_000005.9:g.176637085A>C	(Likely) benign	1 lab	ebc6dc1a3f
8:105105703 RIMS2 G>A	8	105105703	105105703	G	A	RIMS2	c.3698G>A	NM_001348484.3	NP_001335413.1:p.(Arg1233Gln)	NC_000008.10:g.105105703G>A	VUS	1 lab	ebc6e520d5
11:118362611 KMT2A C>T	11	118362611	118362611	C	T	KMT2A	c.4972C>T	NM_001197104.2	NP_001184033.1:p.(Arg1658Trp)	NC_000011.9:g.118362611C>T	VUS	1 lab	2d9f710a91
2:179753282 CCDC141 G>A	2	179753282	179753282	G	A	CCDC141	c.1379C>T	NM_173648.4	NP_775919.3:p.(Thr460Ile)	NC_000002.11:g.179753282G>A	VUS	1 lab	ebcabcbb0e
11:93433071 CEP295 C>G	11	93433071	93433071	C	G	CEP295	c.4993C>G	NM_033395.2	NP_203753.1:p.(Pro1665Ala)	NC_000011.9:g.93433071C>G	(Likely) benign	1 lab	ebcb314588
12:66765533 GRIP1 T>C	12	66765533	66765533	T	C	GRIP1	c.2953A>G	NM_001366722.1	NP_001353651.1:p.(Arg985Gly)	NC_000012.11:g.66765533T>C	(Likely) benign	1 lab	ebcc7fc9a4
2:220285608 DES A>C	2	220285608	220285608	A	C	DES	c.956A>C	NM_001927.4	NP_001918.3:p.(Gln319Pro)	NC_000002.11:g.220285608A>C	VUS	1 lab	ebcca681d7
12:121426828 HNF1A GGCGCAGCGTAA>G	12	121426828	121426840	GGCGCAGCGTAA	G	HNF1A	c.521_526+5del	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426830_121426840del	(Likely) pathogenic	1 lab	ebcf80cfb8
2:121736173 GLI2 T>C	2	121736173	121736173	T	C	GLI2	c.1518+14T>C	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121736173T>C	(Likely) benign	1 lab	2da98914e8
6:51913325 PKHD1 T>C	6	51913325	51913325	T	C	PKHD1	c.2372A>G	NM_138694.4	NP_619639.3:p.(His791Arg)	NC_000006.11:g.51913325T>C	VUS	1 lab	ebd28574a2
6:168377106 MISSING A>G	6	168377106	168377106	A	G	MISSING				NC_000006.11:g.168377106A>G	VUS	1 lab	ebd45ebdbe
9:139412624 NOTCH1 G>A	9	139412624	139412624	G	A	NOTCH1	c.1220C>T	NM_017617.5	NP_060087.3:p.(Pro407Leu)	NC_000009.11:g.139412624G>A	VUS	1 lab	ebd5153d8a
19:43013310 CEACAM1 G>C	19	43013310	43013310	G	C	CEACAM1	c.1532C>G	NM_001712.5	NP_001703.2:p.(Pro511Arg)	NC_000019.9:g.43013310G>C	(Likely) benign	1 lab	ebd53ea09e
X:151997828 CETN2 A>T	X	151997828	151997828	A	T	CETN2	c.163-7T>A	NM_004344.3	NP_004335.1:p.?	NC_000023.10:g.151997828A>T	(Likely) benign	1 lab	ebd7598b28
12:106827571 POLR3B A>G	12	106827571	106827571	A	G	POLR3B	c.1702A>G	NM_018082.6	NP_060552.4:p.(Ile568Val)	NC_000012.11:g.106827571A>G	VUS	1 lab	ebd780c304
14:21881158 CHD8 A>C	14	21881158	21881158	A	C	CHD8	c.2143-3T>G	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21881158A>C	VUS	1 lab	ebd980277e
X:135443680 ADGRG4 C>G	X	135443680	135443680	C	G	ADGRG4	c.7211C>G	NM_153834.4	NP_722576.3:p.(Thr2404Ser)	NC_000023.10:g.135443680C>G	(Likely) benign	1 lab	ebdb0a4b83
3:4712525 ITPR1 G>A	3	4712525	4712525	G	A	ITPR1	c.2119G>A	NM_001378452.1	NP_001365381.1:p.(Glu707Lys)	NC_000003.11:g.4712525G>A	VUS	1 lab	ebdb774874
9:101156505 GABBR2 C>G	9	101156505	101156505	C	G	GABBR2	c.1330G>C	NM_005458.8	NP_005449.5:p.(Ala444Pro)	NC_000009.11:g.101156505C>G	(Likely) benign	1 lab	ebdbb041d2
4:1795780 FGFR3 G>C	4	1795780	1795780	G	C	FGFR3	c.109+10G>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795780G>C	(Likely) benign	1 lab	ebdda28fa8
14:92583881 NDUFB1 C>T	14	92583881	92583881	C	T	NDUFB1	c.101G>A	NM_004545.4	NP_004536.3:p.(Arg34Gln)	NC_000014.8:g.92583881C>T	(Likely) benign	1 lab	ebde401f8f
7:45104112 CCM2 C>T	7	45104112	45104112	C	T	CCM2	c.339C>T	NM_031443.4	NP_113631.1:p.(Leu113=)	NC_000007.13:g.45104112C>T	(Likely) benign	1 lab	ebdffb589c
2:179523422 TTN T>A	2	179523422	179523422	T	A	TTN	c.37543+10A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179523422T>A	VUS	1 lab	ebe1733f67
14:79432484 NRXN3 C>T	14	79432484	79432484	C	T	NRXN3	c.2512C>T	NM_001330195.2	NP_001317124.1:p.(Leu838Phe)	NC_000014.8:g.79432484C>T	VUS	1 lab	ebe22944c0
12:53292527 KRT8 C>T	12	53292527	53292527	C	T	KRT8	c.1138G>A	NM_002273.4	NP_002264.1:p.(Val380Ile)	NC_000012.11:g.53292527C>T	VUS	1 lab	ebe2cb1e93
2:16080788 MYCN G>C	2	16080788	16080788	G	C	MYCN	c.-195G>C	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16080788G>C	VUS	1 lab	ebe7d6808c
7:141643727 CLEC5A G>A	7	141643727	141643727	G	A	CLEC5A	c.177C>T	NM_013252.3	NP_037384.1:p.(Asn59=)	NC_000007.13:g.141643727G>A	VUS	1 lab	ebe8e2d6a4
5:14751216 ANKH G>A	5	14751216	14751216	G	A	ANKH	c.649C>T	NM_054027.6	NP_473368.1:p.(His217Tyr)	NC_000005.9:g.14751216G>A	VUS	1 lab	ebea6a4861
20:58490603 SYCP2 A>T	20	58490603	58490603	A	T	SYCP2	c.516T>A	NM_014258.4	NP_055073.2:p.(Ile172=)	NC_000020.10:g.58490603A>T	VUS	1 lab	ebea7ffbc8
10:8100362 GATA3 G>A	10	8100362	8100362	G	A	GATA3	c.336G>A	NM_001002295.2	NP_001002295.1:p.(Trp112Ter)	NC_000010.10:g.8100362G>A	(Likely) pathogenic	1 lab	3065493a47
12:122748143 VPS33A T>C	12	122748143	122748143	T	C	VPS33A	c.272A>G	NM_022916.6	NP_075067.2:p.(Asp91Gly)	NC_000012.11:g.122748143T>C	VUS	1 lab	ebee0633b0
1:111991712 WDR77 A>T	1	111991712	111991712	A	T	WDR77	c.80T>A	NM_024102.4	NP_077007.1:p.(Met27Lys)	NC_000001.10:g.111991712A>T	VUS	1 lab	ebf00991e5
21:45706905 AIRE G>A	21	45706905	45706905	G	A	AIRE	c.352G>A	NM_000383.4	NP_000374.1:p.(Val118Ile)	NC_000021.8:g.45706905G>A	VUS	1 lab	ebf2415da9
1:60287616 HOOK1 G>C	1	60287616	60287616	G	C	HOOK1	c.149+1G>C	NM_015888.6	NP_056972.1:p.?	NC_000001.10:g.60287616G>C	VUS	1 lab	ebf282b4e5
6:117243196 RFX6 C>T	6	117243196	117243196	C	T	RFX6	c.1328-9C>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243196C>T	(Likely) benign	1 lab	ebf36836f0
15:78893821 CHRNA3 G>A	15	78893821	78893821	G	A	CHRNA3	c.1163C>T	NM_000743.5	NP_000734.2:p.(Ser388Phe)	NC_000015.9:g.78893821G>A	VUS	1 lab	ebf3b1fa63
10:21141470 NEBL G>A	10	21141470	21141470	G	A	NEBL	c.1008+4C>T	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21141470G>A	(Likely) benign	1 lab	30672f0958
2:131356247 CFC1 T>A	2	131356247	131356247	T	A	CFC1	c.215A>T	NM_032545.4	NP_115934.1:p.(Glu72Val)	NC_000002.11:g.131356247T>A	VUS	1 lab	ebf7bcdeb7
1:228459726 OBSCN C>G	1	228459726	228459726	C	G	OBSCN	c.5790C>G	NM_001386125.1	NP_001373054.1:p.(Ser1930Arg)	NC_000001.10:g.228459726C>G	VUS	1 lab	ebf7c3e759
2:179536993 TTN C>T	2	179536993	179536993	C	T	TTN	c.34932G>A	NM_001267550.2	NP_001254479.2:p.(Gly11644=)	NC_000002.11:g.179536993C>T	(Likely) benign	1 lab	ebf943ddba
4:3344709 RGS12 C>T	4	3344709	3344709	C	T	RGS12	c.1927C>T	NM_001394154.1	NP_001381083.1:p.(Arg643Cys)	NC_000004.11:g.3344709C>T	VUS	1 lab	ebf9ab944f
2:170063224 LRP2 G>A	2	170063224	170063224	G	A	LRP2	c.7006C>T	NM_004525.3	NP_004516.2:p.(Arg2336Trp)	NC_000002.11:g.170063224G>A	(Likely) benign	1 lab	ebfb469ec2
13:95243112 TGDS T>A	13	95243112	95243112	T	A	TGDS	c.308A>T	NM_014305.4	NP_055120.1:p.(His103Leu)	NC_000013.10:g.95243112T>A	VUS	1 lab	ebffac16b1
5:112175095 APC A>G	5	112175095	112175095	A	G	APC	c.3804A>G	NM_000038.6	NP_000029.2:p.(Pro1268=)	NC_000005.9:g.112175095A>G	VUS	1 lab	ebffbac946
1:22188344 HSPG2 C>T	1	22188344	22188344	C	T	HSPG2	c.4869-8G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22188344C>T	(Likely) benign	1 lab	ec0088acdc
11:2182104 INS G>C	11	2182104	2182104	G	C	INS	c.98C>G	NM_000207.3	NP_000198.1:p.(Ser33Ter)	NC_000011.9:g.2182104G>C	(Likely) pathogenic	1 lab	ec01fb89dc
X:24006420 KLHL15 C>G	X	24006420	24006420	C	G	KLHL15	c.1433G>C	NM_030624.3	NP_085127.2:p.(Arg478Thr)	NC_000023.10:g.24006420C>G	VUS	1 lab	ec03074e20
12:110012611 MVK TAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA>T	12	110012611	110012706	TAGGATTCCCAGGAGCCATGTTGTCAGAAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCATGGAGAACATGCCGTGGTACATGGCA	T	MVK	c.-13_78+1del	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110012615_110012706del	VUS	1 lab	306ad7c873
5:38884014 OSMR C>T	5	38884014	38884014	C	T	OSMR	c.504C>T	NM_003999.3	NP_003990.1:p.(Tyr168=)	NC_000005.9:g.38884014C>T	(Likely) benign	1 lab	ec05701fa5
1:225152180 DNAH14 G>A	1	225152180	225152180	G	A	DNAH14	c.368-1G>A	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225152180G>A	VUS	1 lab	ec06ddaabd
20:47990005 KCNB1 G>A	20	47990005	47990005	G	A	KCNB1	c.2092C>T	NM_004975.4	NP_004966.1:p.(Arg698Trp)	NC_000020.10:g.47990005G>A	(Likely) benign	1 lab	2db307e1f6
9:113228228 SVEP1 T>C	9	113228228	113228228	T	C	SVEP1	c.3239A>G	NM_153366.4	NP_699197.3:p.(Lys1080Arg)	NC_000009.11:g.113228228T>C	(Likely) benign	1 lab	ec0768ddbe
3:49848103 UBA7 C>T	3	49848103	49848103	C	T	UBA7	c.1314G>A	NM_003335.3	NP_003326.2:p.(Val438=)	NC_000003.11:g.49848103C>T	(Likely) benign	1 lab	ec07feb128
19:4719211 DPP9 G>A	19	4719211	4719211	G	A	DPP9	c.56+652C>T	NM_139159.5	NP_631898.3:p.?	NC_000019.9:g.4719211G>A	(Likely) benign	1 lab	ec0a174bd4
22:50721758 PLXNB2 G>A	22	50721758	50721758	G	A	PLXNB2	c.2679+8C>T	NM_012401.4	NP_036533.2:p.?	NC_000022.10:g.50721758G>A	(Likely) benign	1 lab	ec0a8cf31b
4:7668854 SORCS2 A>G	4	7668854	7668854	A	G	SORCS2	c.1075A>G	NM_020777.3	NP_065828.2:p.(Thr359Ala)	NC_000004.11:g.7668854A>G	VUS	1 lab	ec0cf4882f
15:83345352 AP3B2 C>G	15	83345352	83345352	C	G	AP3B2	c.1526G>C	NM_001278512.2	NP_001265441.1:p.(Gly509Ala)	NC_000015.9:g.83345352C>G	(Likely) benign	1 lab	ec0daa5958
2:26624973 DRC1 G>C	2	26624973	26624973	G	C	DRC1	c.116G>C	NM_145038.5	NP_659475.2:p.(Arg39Pro)	NC_000002.11:g.26624973G>C	VUS	1 lab	ec0fe246df
X:51637846 MAGED1 G>A	X	51637846	51637846	G	A	MAGED1	c.46-303G>A	NM_006986.4	NP_008917.3:p.?	NC_000023.10:g.51637846G>A	(Likely) benign	1 lab	ec13891e08
11:47346137 MADD G>A	11	47346137	47346137	G	A	MADD	c.4722+9G>A	NM_001376571.1	NP_001363500.1:p.?	NC_000011.9:g.47346137G>A	(Likely) benign	1 lab	ec138e5087
5:140961952 DIAPH1 G>C	5	140961952	140961952	G	C	DIAPH1	c.621-10C>G	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140961952G>C	VUS	1 lab	ec13f0ca5e
16:1822949 EME2 C>A	16	1822949	1822949	C	A	EME2	c.-280C>A	NM_001257370.2	NP_001244299.1:p.?	NC_000016.9:g.1822949C>A	VUS	1 lab	ec16add329
9:98268812 PTCH1 C>A	9	98268812	98268812	C	A	PTCH1	c.271G>T	NM_000264.5	NP_000255.2:p.(Gly91Cys)	NC_000009.11:g.98268812C>A	VUS	1 lab	ec177ee3f6
X:9866265 SHROOM2 C>A	X	9866265	9866265	C	A	SHROOM2	c.2826C>A	NM_001649.4	NP_001640.1:p.(Asp942Glu)	NC_000023.10:g.9866265C>A	(Likely) benign	1 lab	ec18bc2093
4:103611889 MANBA G>A	4	103611889	103611889	G	A	MANBA	c.713C>T	NM_005908.4	NP_005899.3:p.(Thr238Ile)	NC_000004.11:g.103611889G>A	(Likely) benign	1 lab	306bbc7e20
17:76993506 CANT1 C>G	17	76993506	76993506	C	G	CANT1	c.199G>C	NM_001159773.2	NP_001153245.1:p.(Gly67Arg)	NC_000017.10:g.76993506C>G	(Likely) benign	1 lab	ec1acfeb8e
3:168834385 MECOM C>T	3	168834385	168834385	C	T	MECOM	c.1275G>A	NM_004991.4	NP_004982.2:p.(Arg425=)	NC_000003.11:g.168834385C>T	(Likely) benign	1 lab	ec1f93a574
1:209849109 G0S2 ACGTGCTGGGCAG>A	1	209849109	209849129	ACGTGCTGGGCAG	A	G0S2	c.89_100del	NM_015714.4	NP_056529.1:p.(Gly30_Leu33del)	NC_000001.10:g.209849118_209849129del	VUS	1 lab	ec2093fd27
19:45992174 RTN2 G>A	19	45992174	45992174	G	A	RTN2	c.1312C>T	NM_005619.5	NP_005610.1:p.(Arg438Cys)	NC_000019.9:g.45992174G>A	(Likely) benign	1 lab	306d46b6de
11:61070233 DDB1 G>A	11	61070233	61070233	G	A	DDB1	c.2943-10C>T	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61070233G>A	(Likely) benign	1 lab	ec218813e0
X:54521753 FGD1 G>C	X	54521753	54521753	G	C	FGD1	c.113C>G	NM_004463.3	NP_004454.2:p.(Ser38Trp)	NC_000023.10:g.54521753G>C	VUS	1 lab	ec2193949d
7:152078387 KMT2C C>G	7	152078387	152078387	C	G	KMT2C	c.162-22627G>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152078387C>G	VUS	1 lab	ec223b772b
15:85345569 ZNF592 G>C	15	85345569	85345569	G	C	ZNF592	c.3749G>C	NM_014630.3	NP_055445.2:p.(Ser1250Thr)	NC_000015.9:g.85345569G>C	VUS	1 lab	ec22cc1511
12:58022693 B4GALNT1 T>A	12	58022693	58022693	T	A	B4GALNT1	c.812-7A>T	NM_001478.5	NP_001469.1:p.?	NC_000012.11:g.58022693T>A	(Likely) benign	1 lab	ec23d6553e
15:89400831 ACAN C>T	15	89400831	89400831	C	T	ACAN	c.5015C>T	NM_001369268.1	NP_001356197.1:p.(Ala1672Val)	NC_000015.9:g.89400831C>T	VUS	1 lab	ec25728ad0
16:599780 CAPN15 G>A	16	599780	599780	G	A	CAPN15	c.2008G>A	NM_005632.3	NP_005623.1:p.(Glu670Lys)	NC_000016.9:g.599780G>A	VUS	1 lab	ec25882058
11:22297723 ANO5 T>A	11	22297723	22297723	T	A	ANO5	c.2498T>A	NM_213599.3	NP_998764.1:p.(Met833Lys)	NC_000011.9:g.22297723T>A	(Likely) pathogenic	1 lab	ec26e2de4a
12:48374414 COL2A1 C>T	12	48374414	48374414	C	T	COL2A1	c.2548G>A	NM_001844.5	NP_001835.3:p.(Glu850Lys)	NC_000012.11:g.48374414C>T	VUS	1 lab	ec27f9c477
3:77657048 ROBO2 T>A	3	77657048	77657048	T	A	ROBO2	c.3248T>A	NM_001395656.1	NP_001382585.1:p.(Val1083Asp)	NC_000003.11:g.77657048T>A	VUS	1 lab	ec28a17240
11:92087676 FAT3 A>T	11	92087676	92087676	A	T	FAT3	c.2398A>T	NM_001367949.2	NP_001354878.1:p.(Asn800Tyr)	NC_000011.9:g.92087676A>T	VUS	1 lab	ec28bc1b75
15:65321951 MTFMT T>G	15	65321951	65321951	T	G	MTFMT	c.1A>C	NM_139242.4	NP_640335.2:p.(Met1?)	NC_000015.9:g.65321951T>G	VUS	1 lab	ec29a10ffb
5:149509531 PDGFRB C>T	5	149509531	149509531	C	T	PDGFRB	c.1368G>A	NM_002609.4	NP_002600.1:p.(Arg456=)	NC_000005.9:g.149509531C>T	(Likely) benign	1 lab	ec29b9ea7c
X:117809966 DOCK11 A>G	X	117809966	117809966	A	G	DOCK11	c.5267A>G	NM_144658.4	NP_653259.3:p.(Lys1756Arg)	NC_000023.10:g.117809966A>G	(Likely) benign	1 lab	ec2efabca5
2:38302210 CYP1B1 C>T	2	38302210	38302210	C	T	CYP1B1	c.322G>A	NM_000104.4	NP_000095.2:p.(Val108Met)	NC_000002.11:g.38302210C>T	VUS	1 lab	ec2fb3a3a2
19:10097261 COL5A3 A>G	19	10097261	10097261	A	G	COL5A3	c.2212T>C	NM_015719.4	NP_056534.2:p.(Phe738Leu)	NC_000019.9:g.10097261A>G	VUS	1 lab	ec31fc8df5
17:10538843 MYH3 C>T	17	10538843	10538843	C	T	MYH3	c.4013G>A	NM_002470.4	NP_002461.2:p.(Arg1338His)	NC_000017.10:g.10538843C>T	(Likely) benign	1 lab	ec32f3dfc4
9:124091220 GSN G>T	9	124091220	124091220	G	T	GSN	c.1814G>T	NM_198252.3	NP_937895.1:p.(Arg605Leu)	NC_000009.11:g.124091220G>T	VUS	1 lab	ec350f7c42
17:36070590 HNF1B G>C	17	36070590	36070590	G	C	HNF1B	c.1127C>G	NM_000458.4	NP_000449.1:p.(Thr376Ser)	NC_000017.10:g.36070590G>C	VUS	1 lab	ec3777e472
2:152541356 NEB T>G	2	152541356	152541356	T	G	NEB	c.2771A>C	NM_001164508.2	NP_001157980.2:p.(Tyr924Ser)	NC_000002.11:g.152541356T>G	VUS	1 lab	ec37ad034a
19:4954731 UHRF1 C>A	19	4954731	4954731	C	A	UHRF1	c.2028C>A	NM_001048201.3	NP_001041666.1:p.(Leu676=)	NC_000019.9:g.4954731C>A	VUS	1 lab	ec37c3e77f
6:137519537 IFNGR1 C>T	6	137519537	137519537	C	T	IFNGR1	c.1101G>A	NM_000416.2	NP_000407.1:p.(Pro367=)	NC_000006.11:g.137519537C>T	(Likely) benign	1 lab	306e820e02
15:45695366 AFG2B A>T	15	45695366	45695366	A	T	AFG2B	c.739A>T	NM_024063.3	NP_076968.2:p.(Lys247Ter)	NC_000015.9:g.45695366A>T	VUS	1 lab	ec3949c0b4
X:134185378 RTL8A G>C	X	134185378	134185378	G	C	RTL8A	c.*419C>G	NM_001078172.2	NP_001071640.1:p.?	NC_000023.10:g.134185378G>C	(Likely) benign	1 lab	ec3bd2f65b
5:127668690 FBN2 T>A	5	127668690	127668690	T	A	FBN2	c.4136A>T	NM_001999.4	NP_001990.2:p.(Asp1379Val)	NC_000005.9:g.127668690T>A	(Likely) pathogenic	1 lab	306fa75ca4
6:51712645 PKHD1 G>T	6	51712645	51712645	G	T	PKHD1	c.8035C>A	NM_138694.4	NP_619639.3:p.(Leu2679Ile)	NC_000006.11:g.51712645G>T	(Likely) benign	1 lab	ec40d6c444
1:160303394 COPA A>C	1	160303394	160303394	A	C	COPA	c.385T>G	NM_004371.4	NP_004362.2:p.(Cys129Gly)	NC_000001.10:g.160303394A>C	(Likely) benign	1 lab	ec414f46cc
12:110231751 TRPV4 A>G	12	110231751	110231751	A	G	TRPV4	c.1568T>C	NM_021625.5	NP_067638.3:p.(Leu523Pro)	NC_000012.11:g.110231751A>G	VUS	1 lab	ec41618e56
15:33381040 FMN1 C>G	15	33381040	33381040	C	G	FMN1	c.2003G>C	NM_001277313.2	NP_001264242.1:p.(Arg668Thr)	NC_000015.9:g.33381040C>G	(Likely) benign	1 lab	ec422b1cd4
X:73524204 ZCCHC13 G>A	X	73524204	73524204	G	A	ZCCHC13	c.103G>A	NM_203303.3	NP_976048.1:p.(Gly35Ser)	NC_000023.10:g.73524204G>A	(Likely) benign	1 lab	ec42b262b9
11:67265484 PITPNM1 A>C	11	67265484	67265484	A	C	PITPNM1	c.1686T>G	NM_004910.3	NP_004901.2:p.(Ile562Met)	NC_000011.9:g.67265484A>C	VUS	1 lab	ec431461ee
2:163174805 IFIH1 AC>A	2	163174805	163174808	AC	A	IFIH1	c.12del	NM_022168.4	NP_071451.2:p.(Tyr5IlefsTer18)	NC_000002.11:g.163174808del	VUS	1 lab	ec43e493aa
17:48676925 CACNA1G TGTC>T	17	48676925	48676929	TGTC	T	CACNA1G	c.3397_3399del	NM_018896.5	NP_061496.2:p.(Ser1133del)	NC_000017.10:g.48676927_48676929del	VUS	1 lab	2db4440bff
17:10364373 MYH4 T>G	17	10364373	10364373	T	G	MYH4	c.1009-2A>C	NM_017533.2	NP_060003.2:p.?	NC_000017.10:g.10364373T>G	VUS	1 lab	ec458ab2a6
2:179589055 TTN C>T	2	179589055	179589055	C	T	TTN	c.21047G>A	NM_001267550.2	NP_001254479.2:p.(Gly7016Asp)	NC_000002.11:g.179589055C>T	VUS	1 lab	ec47874f7d
19:47865819 DHX34 C>T	19	47865819	47865819	C	T	DHX34	c.1462C>T	NM_014681.6	NP_055496.2:p.(Arg488Trp)	NC_000019.9:g.47865819C>T	VUS	1 lab	ec4866adf4
5:137278733 FAM13B A>C	5	137278733	137278733	A	C	FAM13B	c.2425-6T>G	NM_001385994.1	NP_001372923.1:p.?	NC_000005.9:g.137278733A>C	(Likely) benign	1 lab	ec48f1a835
1:152284471 FLG C>G	1	152284471	152284471	C	G	FLG	c.2891G>C	NM_002016.2	NP_002007.1:p.(Gly964Ala)	NC_000001.10:g.152284471C>G	(Likely) benign	1 lab	ec49c69186
18:77894813 ADNP2 T>C	18	77894813	77894813	T	C	ADNP2	c.1517T>C	NM_014913.4	NP_055728.1:p.(Leu506Ser)	NC_000018.9:g.77894813T>C	(Likely) benign	1 lab	ec4b1d5b6e
19:12800595 FBXW9 C>T	19	12800595	12800595	C	T	FBXW9	c.1126G>A	NM_032301.3	NP_115677.2:p.(Gly376Ser)	NC_000019.9:g.12800595C>T	VUS	1 lab	ec4b4f6189
6:43006428 CUL7 C>T	6	43006428	43006428	C	T	CUL7	c.4443G>A	NM_014780.5	NP_055595.2:p.(Ala1481=)	NC_000006.11:g.43006428C>T	VUS	1 lab	ec4b4f95d2
1:55168298 MROH7 G>A	1	55168298	55168298	G	A	MROH7	c.3444G>A	NM_001039464.4	NP_001034553.3:p.(Lys1148=)	NC_000001.10:g.55168298G>A	(Likely) benign	1 lab	ec4bc25e30
17:80863849 TBCD T>G	17	80863849	80863849	T	G	TBCD	c.1842T>G	NM_005993.5	NP_005984.3:p.(Asp614Glu)	NC_000017.10:g.80863849T>G	VUS	1 lab	ec4df0913e
7:99226927 ZSCAN25 G>A	7	99226927	99226927	G	A	ZSCAN25	c.919G>A	NM_145115.3	NP_660090.2:p.(Gly307Arg)	NC_000007.13:g.99226927G>A	VUS	1 lab	ec4e5febe3
16:84224987 ADAD2 ACGTATCGCGCGGAGGGCGGGTG>A	16	84224987	84225009	ACGTATCGCGCGGAGGGCGGGTG	A	ADAD2	c.152_173del	NM_001145400.2	NP_001138872.1:p.(Thr51SerfsTer7)	NC_000016.9:g.84224988_84225009del	VUS	1 lab	ec4e6a8a93
2:69298883 ANTXR1 CA>C	2	69298883	69298884	CA	C	ANTXR1	c.379-2del	NM_032208.3	NP_115584.1:p.?	NC_000002.11:g.69298884del	(Likely) pathogenic	1 lab	ec4f00a548
2:207008762 NDUFS1 G>A	2	207008762	207008762	G	A	NDUFS1	c.967C>T	NM_005006.7	NP_004997.4:p.(Leu323Phe)	NC_000002.11:g.207008762G>A	VUS	1 lab	ec50e8d301
12:31256740 DDX11 G>A	12	31256740	31256740	G	A	DDX11	c.2692-1G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31256740G>A	(Likely) pathogenic	1 lab	ec51afde06
20:31024179 ASXL1 T>G	20	31024179	31024179	T	G	ASXL1	c.3664T>G	NM_015338.6	NP_056153.2:p.(Ser1222Ala)	NC_000020.10:g.31024179T>G	VUS	1 lab	ec52ebd2c0
1:155450340 ASH1L A>G	1	155450340	155450340	A	G	ASH1L	c.2321T>C	NM_018489.3	NP_060959.2:p.(Phe774Ser)	NC_000001.10:g.155450340A>G	VUS	1 lab	ec532c21f6
15:34109056 RYR3 C>T	15	34109056	34109056	C	T	RYR3	c.10503-7C>T	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34109056C>T	(Likely) benign	1 lab	ec5381fd8f
17:79479080 ACTG1 A>G	17	79479080	79479080	A	G	ACTG1	c.212T>C	NM_001614.5	NP_001605.1:p.(Ile71Thr)	NC_000017.10:g.79479080A>G	(Likely) pathogenic	1 lab	ec54228224
16:51171034 SALL1 C>T	16	51171034	51171034	C	T	SALL1	c.3964G>A	NM_002968.2	NP_002959.2:p.(Val1322Ile)	NC_000016.9:g.51171034C>T	(Likely) benign	1 lab	30711b4da2
14:45605397 FANCM G>A	14	45605397	45605397	G	A	FANCM	c.163G>A	NM_020937.4	NP_065988.1:p.(Asp55Asn)	NC_000014.8:g.45605397G>A	VUS	1 lab	ec55d5425f
19:49519466 LHB A>G	19	49519466	49519466	A	G	LHB	c.285T>C	NM_000894.3	NP_000885.1:p.(Gly95=)	NC_000019.9:g.49519466A>G	(Likely) benign	1 lab	2db4b03881
4:166416806 CPE G>A	4	166416806	166416806	G	A	CPE	c.1309G>A	NM_001873.4	NP_001864.1:p.(Val437Ile)	NC_000004.11:g.166416806G>A	VUS	1 lab	2db592d4e2
16:72991712 ZFHX3 GCCA>G	16	72991712	72991717	GCCA	G	ZFHX3	c.2330_2332del	NM_006885.4	NP_008816.3:p.(Val777del)	NC_000016.9:g.72991715_72991717del	VUS	1 lab	ec58e444b3
19:51215341 SHANK1 A>G	19	51215341	51215341	A	G	SHANK1	c.823T>C	NM_016148.5	NP_057232.2:p.(Tyr275His)	NC_000019.9:g.51215341A>G	VUS	1 lab	ec59ae99d7
11:65838234 PACS1 G>C	11	65838234	65838234	G	C	PACS1	c.277G>C	NM_018026.4	NP_060496.2:p.(Gly93Arg)	NC_000011.9:g.65838234G>C	(Likely) benign	1 lab	ec5a723271
9:138662766 KCNT1 G>A	9	138662766	138662766	G	A	KCNT1	c.1833G>A	NM_020822.2	NP_065873.2:p.(Gly611=)	NC_000009.11:g.138662766G>A	(Likely) benign	1 lab	3073329c11
17:76993437 CANT1 T>C	17	76993437	76993437	T	C	CANT1	c.268A>G	NM_001159773.2	NP_001153245.1:p.(Thr90Ala)	NC_000017.10:g.76993437T>C	VUS	1 lab	ec5b95924c
6:15278674 JARID2 G>A	6	15278674	15278674	G	A	JARID2	c.45+31859G>A	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15278674G>A	(Likely) benign	1 lab	ec5c032780
21:47552423 COL6A2 C>T	21	47552423	47552423	C	T	COL6A2	c.3017C>T	NM_001849.4	NP_001840.3:p.(Ala1006Val)	NC_000021.8:g.47552423C>T	VUS	1 lab	ec5c7a834f
5:59064226 PDE4D A>G	5	59064226	59064226	A	G	PDE4D	c.455+124769T>C	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.59064226A>G	(Likely) benign	1 lab	ec5d983a69
16:15100295 PDXDC1 G>A	16	15100295	15100295	G	A	PDXDC1	c.434G>A	NM_015027.4	NP_055842.2:p.(Gly145Glu)	NC_000016.9:g.15100295G>A	VUS	1 lab	ec5e94642d
13:110822047 COL4A1 C>T	13	110822047	110822047	C	T	COL4A1	c.3805G>A	NM_001845.6	NP_001836.3:p.(Gly1269Arg)	NC_000013.10:g.110822047C>T	(Likely) pathogenic	1 lab	ec5ea5fe3d
1:109441604 GPSM2 C>T	1	109441604	109441604	C	T	GPSM2	c.785C>T	NM_013296.5	NP_037428.3:p.(Ser262Leu)	NC_000001.10:g.109441604C>T	(Likely) benign	1 lab	ec5f510511
6:79664636 PHIP G>GT	6	79664636	79664637	G	GT	PHIP	c.3947dup	NM_017934.7	NP_060404.4:p.(Tyr1316Ter)	NC_000006.11:g.79664637dup	(Likely) pathogenic	1 lab	ec5ff0f09c
3:38674526 SCN5A C>G	3	38674526	38674526	C	G	SCN5A	c.273G>C	NM_000335.5	NP_000326.2:p.(Lys91Asn)	NC_000003.11:g.38674526C>G	VUS	1 lab	ec6209b383
11:71942173 INPPL1 C>T	11	71942173	71942173	C	T	INPPL1	c.1437C>T	NM_001567.4	NP_001558.3:p.(Arg479=)	NC_000011.9:g.71942173C>T	(Likely) benign	1 lab	ec62b28b08
14:92537354 ATXN3 C>CCTGCTGCTGCTG	14	92537354	92537378	C	CCTGCTGCTGCTG	ATXN3	c.904_915dup	NM_004993.6	NP_004984.2:p.(Gln302_Gln305dup)	NC_000014.8:g.92537367_92537378dup	(Likely) benign	1 lab	ec62fa5097
2:152390780 NEB G>A	2	152390780	152390780	G	A	NEB	c.21313-720C>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152390780G>A	(Likely) benign	1 lab	ec63eaf9ec
16:29818506 MAZ C>T	16	29818506	29818506	C	T	MAZ	c.400C>T	NM_002383.4	NP_002374.2:p.(Pro134Ser)	NC_000016.9:g.29818506C>T	VUS	1 lab	ecc66c82de
X:130678865 OR13H1 T>A	X	130678865	130678865	T	A	OR13H1	c.818T>A	NM_001004486.1	NP_001004486.1:p.(Ile273Asn)	NC_000023.10:g.130678865T>A	VUS	1 lab	ec64988d06
4:9212449 USP17L10 T>C	4	9212449	9212449	T	C	USP17L10	c.67T>C	NM_001256852.1	NP_001243781.1:p.(Ser23Pro)	NC_000004.11:g.9212449T>C	(Likely) benign	1 lab	ec64e1d41f
17:10539143 MYH3 T>A	17	10539143	10539143	T	A	MYH3	c.3884A>T	NM_002470.4	NP_002461.2:p.(Lys1295Ile)	NC_000017.10:g.10539143T>A	VUS	1 lab	ec6588feb9
16:67615849 CTCF G>A	16	67615849	67615849	G	A	CTCF	c.-10+10682G>A	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67615849G>A	(Likely) benign	1 lab	ec661bda06
11:67799768 NDUFS8 G>A	11	67799768	67799768	G	A	NDUFS8	c.74G>A	NM_002496.4	NP_002487.1:p.(Arg25Gln)	NC_000011.9:g.67799768G>A	VUS	1 lab	ec673c0744
1:212955723 NSL1 G>A	1	212955723	212955723	G	A	NSL1	c.490C>T	NM_015471.4	NP_056286.3:p.(Pro164Ser)	NC_000001.10:g.212955723G>A	VUS	1 lab	ec68704e79
17:15964964 NCOR1 C>T	17	15964964	15964964	C	T	NCOR1	c.5632G>A	NM_006311.4	NP_006302.2:p.(Val1878Ile)	NC_000017.10:g.15964964C>T	(Likely) benign	1 lab	ec69219471
11:83170940 DLG2 T>C	11	83170940	83170940	T	C	DLG2	c.2849A>G	NM_001142699.3	NP_001136171.1:p.(Asp950Gly)	NC_000011.9:g.83170940T>C	VUS	1 lab	ec6a5827cb
5:13700776 DNAH5 C>G	5	13700776	13700776	C	G	DNAH5	c.13696G>C	NM_001369.3	NP_001360.1:p.(Val4566Leu)	NC_000005.9:g.13700776C>G	VUS	1 lab	ec6a6f7c93
1:227076547 PSEN2 A>G	1	227076547	227076547	A	G	PSEN2	c.584A>G	NM_000447.3	NP_000438.2:p.(Tyr195Cys)	NC_000001.10:g.227076547A>G	VUS	1 lab	ec6a77b87f
15:31218081 FAN1 G>A	15	31218081	31218081	G	A	FAN1	c.2427G>A	NM_014967.5	NP_055782.3:p.(Thr809=)	NC_000015.9:g.31218081G>A	(Likely) benign	1 lab	3388984342
7:104746409 KMT2E A>G	7	104746409	104746409	A	G	KMT2E	c.2555A>G	NM_182931.3	NP_891847.1:p.(Asn852Ser)	NC_000007.13:g.104746409A>G	(Likely) benign	1 lab	ec6c6055b8
22:26157103 MYO18B G>T	22	26157103	26157103	G	T	MYO18B	c.39+5G>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26157103G>T	(Likely) benign	1 lab	ec6ce6b3de
1:3742957 CEP104 G>C	1	3742957	3742957	G	C	CEP104	c.2232C>G	NM_014704.4	NP_055519.1:p.(Ile744Met)	NC_000001.10:g.3742957G>C	(Likely) benign	1 lab	ec6e2eb6c3
8:145741559 RECQL4 G>C	8	145741559	145741559	G	C	RECQL4	c.944C>G	NM_004260.4	NP_004251.4:p.(Ser315Trp)	NC_000008.10:g.145741559G>C	VUS	1 lab	ec6fc60baf
2:240005877 HDAC4 C>T	2	240005877	240005877	C	T	HDAC4	c.2506G>A	NM_001378414.1	NP_001365343.1:p.(Val836Met)	NC_000002.11:g.240005877C>T	(Likely) benign	1 lab	ec708134a1
11:103044867 DYNC2H1 G>A	11	103044867	103044867	G	A	DYNC2H1	c.5642G>A	NM_001377.3	NP_001368.2:p.(Arg1881Lys)	NC_000011.9:g.103044867G>A	(Likely) benign	1 lab	ec7283cc91
2:242047704 PASK G>A	2	242047704	242047704	G	A	PASK	c.3545C>T	NM_015148.4	NP_055963.2:p.(Pro1182Leu)	NC_000002.11:g.242047704G>A	VUS	1 lab	ec729cb086
15:44890531 SPG11 GGTT>G	15	44890531	44890536	GGTT	G	SPG11	c.3930_3932del	NM_025137.4	NP_079413.3:p.(Thr1312del)	NC_000015.9:g.44890534_44890536del	(Likely) benign	1 lab	ec7324dbeb
1:22973907 C1QC G>C	1	22973907	22973907	G	C	C1QC	c.369G>C	NM_001347619.2	NP_001334548.1:p.(Thr123=)	NC_000001.10:g.22973907G>C	(Likely) benign	1 lab	3077750f59
17:78187976 SGSH C>T	17	78187976	78187976	C	T	SGSH	c.658G>A	NM_000199.5	NP_000190.1:p.(Val220Met)	NC_000017.10:g.78187976C>T	VUS	1 lab	ec74314739
17:48184448 PDK2 G>A	17	48184448	48184448	G	A	PDK2	c.616G>A	NM_002611.5	NP_002602.2:p.(Asp206Asn)	NC_000017.10:g.48184448G>A	(Likely) benign	1 lab	ec75d629aa
19:18899207 COMP G>C	19	18899207	18899207	G	C	COMP	c.867+12C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899207G>C	(Likely) benign	1 lab	ec7e7a9b48
19:2790508 THOP1 C>T	19	2790508	2790508	C	T	THOP1	c.106C>T	NM_003249.5	NP_003240.1:p.(Arg36Cys)	NC_000019.9:g.2790508C>T	(Likely) benign	1 lab	ec7ec38994
2:33172688 LTBP1 A>ACCGCCGCCG	2	33172688	33172709	A	ACCGCCGCCG	LTBP1	c.310_318dup	NM_206943.4	NP_996826.3:p.(Pro104_Pro106dup)	NC_000002.11:g.33172701_33172709dup	VUS	1 lab	ec7718bb5e
11:108115760 ATM A>G	11	108115760	108115760	A	G	ATM	c.901+7A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108115760A>G	(Likely) benign	1 lab	ec7736b91d
12:121434450 HNF1A T>TG	12	121434450	121434452	T	TG	HNF1A	c.1216dup	NM_000545.8	NP_000536.6:p.(Ala406GlyfsTer13)	NC_000012.11:g.121434452dup	(Likely) pathogenic	1 lab	ec77399420
21:43896065 RSPH1 G>A	21	43896065	43896065	G	A	RSPH1	c.820C>T	NM_080860.4	NP_543136.1:p.(Leu274Phe)	NC_000021.8:g.43896065G>A	(Likely) benign	1 lab	ec78ab3e12
1:63975859 ITGB3BP C>CA	1	63975859	63975869	C	CA	ITGB3BP	c.6-1619dup	NM_014288.5	NP_055103.3:p.?	NC_000001.10:g.63975869dup	(Likely) benign	1 lab	ec78e87628
4:1804773 FGFR3 G>A	4	1804773	1804773	G	A	FGFR3	c.931-646G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804773G>A	VUS	1 lab	ec78f17790
3:49723859 MST1 C>T	3	49723859	49723859	C	T	MST1	c.903G>A	NM_020998.4	NP_066278.3:p.(Lys301=)	NC_000003.11:g.49723859C>T	VUS	1 lab	ec7a16339a
11:119183093 MCAM C>T	11	119183093	119183093	C	T	MCAM	c.907G>A	NM_006500.3	NP_006491.2:p.(Gly303Arg)	NC_000011.9:g.119183093C>T	(Likely) benign	1 lab	ec7a702ff1
21:47411983 COL6A1 C>T	21	47411983	47411983	C	T	COL6A1	c.1179C>T	NM_001848.3	NP_001839.2:p.(Asp393=)	NC_000021.8:g.47411983C>T	(Likely) benign	1 lab	ec7acbbe62
19:16962340 SIN3B G>A	19	16962340	16962340	G	A	SIN3B	c.844G>A	NM_001297595.2	NP_001284524.1:p.(Ala282Thr)	NC_000019.9:g.16962340G>A	(Likely) benign	1 lab	ec7b8f13a1
2:178364345 AGPS G>T	2	178364345	178364345	G	T	AGPS	c.1363-1G>T	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178364345G>T	(Likely) benign	1 lab	ec7bc2a612
14:33015910 AKAP6 A>G	14	33015910	33015910	A	G	AKAP6	c.2051A>G	NM_004274.5	NP_004265.3:p.(Tyr684Cys)	NC_000014.8:g.33015910A>G	VUS	1 lab	ec7bfd4eae
2:100267921 AFF3 T>C	2	100267921	100267921	T	C	AFF3	c.1144-1793A>G	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100267921T>C	(Likely) benign	1 lab	ec7c989ada
19:51172047 SHANK1 G>C	19	51172047	51172047	G	C	SHANK1	c.3170C>G	NM_016148.5	NP_057232.2:p.(Pro1057Arg)	NC_000019.9:g.51172047G>C	(Likely) benign	1 lab	ec7cf985fb
7:104751259 KMT2E T>A	7	104751259	104751259	T	A	KMT2E	c.4012T>A	NM_182931.3	NP_891847.1:p.(Cys1338Ser)	NC_000007.13:g.104751259T>A	VUS	1 lab	ec7d2341dc
4:122749346 BBS7 GT>G	4	122749346	122749347	GT	G	BBS7	c.1968del	NM_176824.3	NP_789794.1:p.(Gln657ArgfsTer17)	NC_000004.11:g.122749347del	(Likely) pathogenic	1 lab	ec7db445a0
14:64557584 SYNE2 G>A	14	64557584	64557584	G	A	SYNE2	c.11794G>A	NM_182914.3	NP_878918.2:p.(Val3932Ile)	NC_000014.8:g.64557584G>A	(Likely) benign	1 lab	ec7ef9a5c0
16:70732632 VAC14 C>T	16	70732632	70732632	C	T	VAC14	c.1744G>A	NM_018052.5	NP_060522.3:p.(Ala582Thr)	NC_000016.9:g.70732632C>T	VUS	1 lab	ec80cf9c3a
8:120759033 TAF2 G>C	8	120759033	120759033	G	C	TAF2	c.3020C>G	NM_003184.4	NP_003175.2:p.(Pro1007Arg)	NC_000008.10:g.120759033G>C	VUS	1 lab	ec824557df
X:53627224 HUWE1 T>C	X	53627224	53627224	T	C	HUWE1	c.3017A>G	NM_031407.7	NP_113584.3:p.(Gln1006Arg)	NC_000023.10:g.53627224T>C	VUS	1 lab	ec857129a4
9:135946689 CEL G>C	9	135946689	135946689	G	C	CEL	c.1800G>C	NM_001807.6	NP_001798.3:p.(Gly600=)	NC_000009.11:g.135946689G>C	(Likely) benign	1 lab	ec863d6a10
4:77662579 SHROOM3 G>A	4	77662579	77662579	G	A	SHROOM3	c.3253G>A	NM_020859.4	NP_065910.3:p.(Ala1085Thr)	NC_000004.11:g.77662579G>A	(Likely) benign	1 lab	ec864a4265
17:42397557 SLC25A39 C>A	17	42397557	42397557	C	A	SLC25A39	c.964+7G>T	NM_001143780.3	NP_001137252.1:p.?	NC_000017.10:g.42397557C>A	VUS	1 lab	ec86e2607a
20:32358104 ZNF341 T>C	20	32358104	32358104	T	C	ZNF341	c.1601+6T>C	NM_032819.4	NP_116208.3:p.?	NC_000020.10:g.32358104T>C	(Likely) benign	1 lab	3388ccc0d7
2:240078471 HDAC4 TGGA>T	2	240078471	240078475	TGGA	T	HDAC4	c.612-5_612-3del	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240078473_240078475del	(Likely) benign	1 lab	ec877c8d5d
3:100059943 NIT2 A>C	3	100059943	100059943	A	C	NIT2	c.274A>C	NM_020202.5	NP_064587.1:p.(Lys92Gln)	NC_000003.11:g.100059943A>C	(Likely) benign	1 lab	ec87c3e140
3:10122911 FANCD2 A>C	3	10122911	10122911	A	C	FANCD2	c.3104A>C	NM_001018115.3	NP_001018125.1:p.(Gln1035Pro)	NC_000003.11:g.10122911A>C	VUS	1 lab	ec8a606cc1
16:30735751 SRCAP C>T	16	30735751	30735751	C	T	SRCAP	c.5006C>T	NM_006662.3	NP_006653.2:p.(Pro1669Leu)	NC_000016.9:g.30735751C>T	(Likely) benign	1 lab	ec8ce48766
1:234564902 TARBP1 C>A	1	234564902	234564902	C	A	TARBP1	c.3040G>T	NM_005646.4	NP_005637.3:p.(Ala1014Ser)	NC_000001.10:g.234564902C>A	(Likely) benign	1 lab	ec8da815a1
15:30382480 GOLGA8J C>T	15	30382480	30382480	C	T	GOLGA8J	c.1197C>T	NM_001282472.2	NP_001269401.1:p.(Gly399=)	NC_000015.9:g.30382480C>T	(Likely) benign	1 lab	ecb6a72104
3:25679805 TOP2B TAAAAAAAAAAAAAAAAAA>T	3	25679805	25679843	TAAAAAAAAAAAAAAAAAA	T	TOP2B	c.396-22_396-5del	NM_001330700.2	NP_001317629.1:p.?	NC_000003.11:g.25679826_25679843del	(Likely) benign	1 lab	307bbd5662
X:100880973 ARMCX3 T>A	X	100880973	100880973	T	A	ARMCX3	c.1004T>A	NM_177947.3	NP_808816.1:p.(Phe335Tyr)	NC_000023.10:g.100880973T>A	VUS	1 lab	ec9058d71b
1:153660238 NPR1 G>A	1	153660238	153660238	G	A	NPR1	c.2221G>A	NM_000906.4	NP_000897.3:p.(Val741Met)	NC_000001.10:g.153660238G>A	(Likely) benign	1 lab	ec90d1e999
X:138727797 MCF2 C>T	X	138727797	138727797	C	T	MCF2	c.161G>A	NM_001171876.2	NP_001165347.1:p.(Arg54Gln)	NC_000023.10:g.138727797C>T	VUS	1 lab	ec90ed2261
1:232581473 SIPA1L2 G>C	1	232581473	232581473	G	C	SIPA1L2	c.3155C>G	NM_020808.5	NP_065859.3:p.(Thr1052Ser)	NC_000001.10:g.232581473G>C	(Likely) benign	1 lab	ec910773c7
13:111145593 COL4A2 G>A	13	111145593	111145593	G	A	COL4A2	c.3598G>A	NM_001846.4	NP_001837.2:p.(Gly1200Ser)	NC_000013.10:g.111145593G>A	VUS	1 lab	ec94b3165b
15:48757813 FBN1 G>A	15	48757813	48757813	G	A	FBN1	c.4894C>T	NM_000138.5	NP_000129.3:p.(Arg1632Cys)	NC_000015.9:g.48757813G>A	VUS	1 lab	ec9583056f
19:14951919 OR7A10 C>A	19	14951919	14951919	C	A	OR7A10	c.771G>T	NM_001005190.2	NP_001005190.1:p.(Gly257=)	NC_000019.9:g.14951919C>A	(Likely) benign	1 lab	ec96f3e86f
10:112404340 RBM20 A>AGCC	10	112404340	112404355	A	AGCC	RBM20	c.141_143dup	NM_001134363.3	NP_001127835.2:p.(Pro48dup)	NC_000010.10:g.112404353_112404355dup	(Likely) benign	1 lab	ec98cf62ad
9:35808759 NPR2 C>A	9	35808759	35808759	C	A	NPR2	c.2895C>A	NM_003995.4	NP_003986.2:p.(Val965=)	NC_000009.11:g.35808759C>A	VUS	1 lab	eca028c943
10:104404597 TRIM8 G>T	10	104404597	104404597	G	T	TRIM8	c.223G>T	NM_030912.3	NP_112174.2:p.(Val75Leu)	NC_000010.10:g.104404597G>T	VUS	1 lab	eca0fbf6a5
1:145459746 POLR3GL G>A	1	145459746	145459746	G	A	POLR3GL	c.162C>T	NM_032305.3	NP_115681.1:p.(Gly54=)	NC_000001.10:g.145459746G>A	VUS	1 lab	eca60431ea
3:183905218 ABCF3 G>A	3	183905218	183905218	G	A	ABCF3	c.335G>A	NM_018358.3	NP_060828.2:p.(Arg112Lys)	NC_000003.11:g.183905218G>A	(Likely) benign	1 lab	ecb459529b
1:119441648 TBX15 TAC>T	1	119441648	119441650	TAC	T	TBX15	c.1024+1_1024+2del	NM_001330677.2	NP_001317606.1:p.?	NC_000001.10:g.119441649_119441650del	(Likely) pathogenic	1 lab	eca6d0c054
X:138820116 ATP11C G>A	X	138820116	138820116	G	A	ATP11C	c.3247C>T	NM_001353812.2	NP_001340741.2:p.(Leu1083Phe)	NC_000023.10:g.138820116G>A	VUS	1 lab	eca9baa588
1:152279744 FLG G>A	1	152279744	152279744	G	A	FLG	c.7618C>T	NM_002016.2	NP_002007.1:p.(Arg2540Trp)	NC_000001.10:g.152279744G>A	(Likely) benign	1 lab	ecb7465152
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	ecaa1514ff
7:73471044 ELN G>GT	7	73471044	73471045	G	GT	ELN	c.1357+2dup	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471045dup	VUS	1 lab	ecaa749383
21:34022588 SYNJ1 C>A	21	34022588	34022588	C	A	SYNJ1	c.3060G>T	NM_203446.2	NP_982271.2:p.(Met1020Ile)	NC_000021.8:g.34022588C>A	(Likely) benign	1 lab	30820c9ddc
X:53436177 SMC1A T>C	X	53436177	53436177	T	C	SMC1A	c.1361A>G	NM_006306.4	NP_006297.2:p.(Lys454Arg)	NC_000023.10:g.53436177T>C	VUS	1 lab	ecac8399d9
1:3753056 CEP104 TACCAAGG>T	1	3753056	3753063	TACCAAGG	T	CEP104	c.1313_1317+2del	NM_014704.4	NP_055519.1:p.?	NC_000001.10:g.3753057_3753063del	(Likely) benign	1 lab	ecace2b4bd
3:9785277 BRPF1 G>A	3	9785277	9785277	G	A	BRPF1	c.2327G>A	NM_001003694.2	NP_001003694.1:p.(Arg776Gln)	NC_000003.11:g.9785277G>A	(Likely) benign	1 lab	ecae2aa9eb
19:15289968 NOTCH3 C>G	19	15289968	15289968	C	G	NOTCH3	c.3586G>C	NM_000435.3	NP_000426.2:p.(Gly1196Arg)	NC_000019.9:g.15289968C>G	VUS	1 lab	ecb2670587
3:111264008 CD96 C>A	3	111264008	111264008	C	A	CD96	c.177C>A	NM_005816.5	NP_005807.1:p.(Ser59=)	NC_000003.11:g.111264008C>A	(Likely) benign	1 lab	ecb2c2accd
7:103137057 RELN C>G	7	103137057	103137057	C	G	RELN	c.9109G>C	NM_005045.4	NP_005036.2:p.(Glu3037Gln)	NC_000007.13:g.103137057C>G	(Likely) benign	1 lab	ecb3f071e0
7:48547533 ABCA13 C>T	7	48547533	48547533	C	T	ABCA13	c.13412C>T	NM_152701.5	NP_689914.3:p.(Ala4471Val)	NC_000007.13:g.48547533C>T	VUS	1 lab	ecb4513bc4
1:100587035 SASS6 T>C	1	100587035	100587035	T	C	SASS6	c.382A>G	NM_194292.3	NP_919268.1:p.(Thr128Ala)	NC_000001.10:g.100587035T>C	(Likely) benign	1 lab	ecb49c8638
14:21794222 RPGRIP1 G>A	14	21794222	21794222	G	A	RPGRIP1	c.2600G>A	NM_020366.4	NP_065099.3:p.(Arg867Gln)	NC_000014.8:g.21794222G>A	(Likely) benign	1 lab	ecb6ec85ba
9:27185486 TEK A>G	9	27185486	27185486	A	G	TEK	c.1186A>G	NM_000459.5	NP_000450.3:p.(Lys396Glu)	NC_000009.11:g.27185486A>G	VUS	1 lab	ed1a97285a
19:7184562 INSR C>T	19	7184562	7184562	C	T	INSR	c.739G>A	NM_000208.4	NP_000199.2:p.(Asp247Asn)	NC_000019.9:g.7184562C>T	VUS	1 lab	ecd2235490
20:52193010 ZNF217 C>T	20	52193010	52193010	C	T	ZNF217	c.2293G>A	NM_006526.3	NP_006517.1:p.(Val765Met)	NC_000020.10:g.52193010C>T	VUS	1 lab	ecb76a522e
6:15496769 JARID2 G>A	6	15496769	15496769	G	A	JARID2	c.1313G>A	NM_004973.4	NP_004964.2:p.(Arg438Gln)	NC_000006.11:g.15496769G>A	VUS	1 lab	ecb7f0a8dd
22:41533736 EP300 C>G	22	41533736	41533736	C	G	EP300	c.1702C>G	NM_001429.4	NP_001420.2:p.(Arg568Gly)	NC_000022.10:g.41533736C>G	VUS	1 lab	ecb9af48c3
6:73331993 KCNQ5 G>A	6	73331993	73331993	G	A	KCNQ5	c.76G>A	NM_019842.4	NP_062816.2:p.(Ala26Thr)	NC_000006.11:g.73331993G>A	(Likely) benign	1 lab	ecba0c4601
2:32361683 SPAST C>T	2	32361683	32361683	C	T	SPAST	c.1297C>T	NM_014946.4	NP_055761.2:p.(Leu433Phe)	NC_000002.11:g.32361683C>T	(Likely) benign	1 lab	ecbbff052f
4:1807124 FGFR3 G>A	4	1807124	1807124	G	A	FGFR3	c.1455G>A	NM_000142.5	NP_000133.1:p.(Gln485=)	NC_000004.11:g.1807124G>A	(Likely) benign	1 lab	ecbcf2972d
17:17698040 RAI1 A>C	17	17698040	17698040	A	C	RAI1	c.1778A>C	NM_030665.4	NP_109590.3:p.(Asp593Ala)	NC_000017.10:g.17698040A>C	VUS	1 lab	ecbdbd0648
9:124091304 GSN G>T	9	124091304	124091304	G	T	GSN	c.2040+11G>T	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124091304G>T	(Likely) benign	1 lab	30840c764a
6:79752554 PHIP A>G	6	79752554	79752554	A	G	PHIP	c.600+6T>C	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79752554A>G	(Likely) benign	1 lab	ecbf3a582d
1:220363114 RAB3GAP2 A>C	1	220363114	220363114	A	C	RAB3GAP2	c.1715-5T>G	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220363114A>C	(Likely) benign	1 lab	ecbfb96bfc
2:97864315 ANKRD36 C>G	2	97864315	97864315	C	G	ANKRD36	c.2683-8C>G	NM_001354587.1	NP_001341516.1:p.?	NC_000002.11:g.97864315C>G	(Likely) benign	1 lab	ecc0f2f24b
11:118899102 SLC37A4 A>G	11	118899102	118899102	A	G	SLC37A4	c.183T>C	NM_001164277.2	NP_001157749.1:p.(Ala61=)	NC_000011.9:g.118899102A>G	(Likely) benign	1 lab	ecc3191d71
20:21687659 PAX1 CTCGG>TTCTT	20	21687659	21687663	CTCGG	TTCTT	PAX1	c.870_874delinsTTCTT	NM_001257096.2	NP_001244025.1:p.(Val292Phe)	NC_000020.10:g.21687659_21687663delinsTTCTT	VUS	1 lab	ecc55e1dd3
19:46914566 CCDC8 C>T	19	46914566	46914566	C	T	CCDC8	c.1502G>A	NM_032040.5	NP_114429.2:p.(Arg501Gln)	NC_000019.9:g.46914566C>T	VUS	1 lab	eccb907e09
X:63445355 ASB12 C>T	X	63445355	63445355	C	T	ASB12	c.176G>A	NM_130388.4	NP_569059.3:p.(Arg59His)	NC_000023.10:g.63445355C>T	(Likely) benign	1 lab	eccf412bcb
12:133159816 FBRSL1 G>T	12	133159816	133159816	G	T	FBRSL1	c.2461G>T	NM_001367871.1	NP_001354800.1:p.(Asp821Tyr)	NC_000012.11:g.133159816G>T	VUS	1 lab	eccf80e40b
11:95546739 CEP57 G>A	11	95546739	95546739	G	A	CEP57	c.490G>A	NM_014679.5	NP_055494.2:p.(Val164Ile)	NC_000011.9:g.95546739G>A	(Likely) benign	1 lab	ecd2c8291b
5:150947355 FAT2 G>A	5	150947355	150947355	G	A	FAT2	c.1138C>T	NM_001447.3	NP_001438.1:p.(Arg380Cys)	NC_000005.9:g.150947355G>A	(Likely) benign	1 lab	2dbae4327f
6:26157073 H1-4 A>G	6	26157073	26157073	A	G	H1-4	c.455A>G	NM_005321.3	NP_005312.1:p.(Lys152Arg)	NC_000006.11:g.26157073A>G	(Likely) benign	1 lab	ecd43ecad3
3:193081961 ATP13A5 TC>T	3	193081961	193081963	TC	T	ATP13A5	c.171del	NM_198505.4	NP_940907.2:p.(Trp57Ter)	NC_000003.11:g.193081963del	VUS	1 lab	ecd548b0b1
2:166771781 TTC21B C>G	2	166771781	166771781	C	G	TTC21B	c.2068G>C	NM_024753.5	NP_079029.3:p.(Ala690Pro)	NC_000002.11:g.166771781C>G	VUS	1 lab	ecd5613c27
13:28498755 PDX1 C>T	13	28498755	28498755	C	T	PDX1	c.769C>T	NM_000209.4	NP_000200.1:p.(Arg257Ter)	NC_000013.10:g.28498755C>T	(Likely) pathogenic	1 lab	ecd6d8509c
17:36623183 ARHGAP23 G>A	17	36623183	36623183	G	A	ARHGAP23	c.1259G>A	NM_001199417.2	NP_001186346.1:p.(Arg420Gln)	NC_000017.10:g.36623183G>A	(Likely) benign	1 lab	ecd807374b
2:113146367 RGPD8 C>A	2	113146367	113146367	C	A	RGPD8	c.4155G>T	NM_001164463.1	NP_001157935.1:p.(Gln1385His)	NC_000002.11:g.113146367C>A	(Likely) benign	1 lab	ecd911a249
2:29294819 PCARE T>C	2	29294819	29294819	T	C	PCARE	c.2309A>G	NM_001029883.3	NP_001025054.1:p.(Lys770Arg)	NC_000002.11:g.29294819T>C	VUS	1 lab	ecdaa68cf2
18:19751217 GATA6 C>A	18	19751217	19751217	C	A	GATA6	c.112C>A	NM_005257.6	NP_005248.2:p.(Pro38Thr)	NC_000018.9:g.19751217C>A	VUS	1 lab	ecddd81e1b
20:34785937 EPB41L1 A>C	20	34785937	34785937	A	C	EPB41L1	c.1642A>C	NM_012156.2	NP_036288.2:p.(Lys548Gln)	NC_000020.10:g.34785937A>C	(Likely) benign	1 lab	ece1298867
17:78169096 CARD14 T>C	17	78169096	78169096	T	C	CARD14	c.1463T>C	NM_024110.4	NP_077015.2:p.(Val488Ala)	NC_000017.10:g.78169096T>C	(Likely) benign	1 lab	3389fd8862
19:7592499 MCOLN1 C>T	19	7592499	7592499	C	T	MCOLN1	c.665C>T	NM_020533.3	NP_065394.1:p.(Thr222Met)	NC_000019.9:g.7592499C>T	VUS	1 lab	ece1558ed7
2:10581626 ODC1 C>T	2	10581626	10581626	C	T	ODC1	c.1241+9G>A	NM_002539.3	NP_002530.1:p.?	NC_000002.11:g.10581626C>T	(Likely) benign	1 lab	ece2ba5890
9:101867579 TGFBR1 C>A	9	101867579	101867579	C	A	TGFBR1	c.92C>A	NM_004612.4	NP_004603.1:p.(Ala31Glu)	NC_000009.11:g.101867579C>A	(Likely) benign	1 lab	ece3fb0019
2:29296449 PCARE C>T	2	29296449	29296449	C	T	PCARE	c.679G>A	NM_001029883.3	NP_001025054.1:p.(Glu227Lys)	NC_000002.11:g.29296449C>T	(Likely) benign	1 lab	ece5b47c6f
9:35802618 NPR2 G>A	9	35802618	35802618	G	A	NPR2	c.1815+14G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802618G>A	(Likely) benign	1 lab	ece60890d3
8:144940936 EPPK1 G>C	8	144940936	144940936	G	C	EPPK1	c.6486C>G	NM_031308.4	NP_112598.3:p.(Ile2162Met)	NC_000008.10:g.144940936G>C	(Likely) benign	1 lab	ece6915008
X:152086664 ZNF185 G>A	X	152086664	152086664	G	A	ZNF185	c.397G>A	NM_001395254.1	NP_001382183.1:p.(Gly133Ser)	NC_000023.10:g.152086664G>A	VUS	1 lab	ece6ba0d0a
8:41790003 KAT6A T>C	8	41790003	41790003	T	C	KAT6A	c.5735A>G	NM_006766.5	NP_006757.2:p.(Asn1912Ser)	NC_000008.10:g.41790003T>C	(Likely) benign	1 lab	ece80a460a
22:24718060 SPECC1L C>T	22	24718060	24718060	C	T	SPECC1L	c.1112C>T	NM_015330.6	NP_056145.5:p.(Ser371Leu)	NC_000022.10:g.24718060C>T	(Likely) benign	1 lab	ece8a50bef
11:66083913 CD248 C>T	11	66083913	66083913	C	T	CD248	c.586G>A	NM_020404.3	NP_065137.1:p.(Gly196Ser)	NC_000011.9:g.66083913C>T	VUS	1 lab	ece9944d07
17:8021481 ALOXE3 T>C	17	8021481	8021481	T	C	ALOXE3	c.-173A>G	NM_021628.3	NP_067641.2:p.?	NC_000017.10:g.8021481T>C	VUS	1 lab	ecea189b54
5:94818314 SKIC3 G>A	5	94818314	94818314	G	A	SKIC3	c.4075C>T	NM_014639.4	NP_055454.1:p.(Gln1359Ter)	NC_000005.9:g.94818314G>A	VUS	1 lab	eceab3a843
15:48805772 FBN1 C>T	15	48805772	48805772	C	T	FBN1	c.1562G>A	NM_000138.5	NP_000129.3:p.(Ser521Asn)	NC_000015.9:g.48805772C>T	(Likely) benign	1 lab	eceb8a1c3a
X:20179798 RPS6KA3 ACT>A	X	20179798	20179800	ACT	A	RPS6KA3	c.1921_1922del	NM_004586.3	NP_004577.1:p.(Ser641TrpfsTer72)	NC_000023.10:g.20179799_20179800del	(Likely) pathogenic	1 lab	308dec6f17
2:48032810 MSH6 G>T	2	48032810	48032810	G	T	MSH6	c.3610G>T	NM_000179.3	NP_000170.1:p.(Ala1204Ser)	NC_000002.11:g.48032810G>T	(Likely) benign	1 lab	eced669b0f
2:74329083 TET3 G>A	2	74329083	74329083	G	A	TET3	c.5168G>A	NM_001287491.2	NP_001274420.1:p.(Arg1723Gln)	NC_000002.11:g.74329083G>A	VUS	1 lab	ecee7e4a41
8:41789769 KAT6A G>A	8	41789769	41789769	G	A	KAT6A	c.5969C>T	NM_006766.5	NP_006757.2:p.(Ala1990Val)	NC_000008.10:g.41789769G>A	(Likely) benign	1 lab	ecefeccb53
X:91873265 PCDH11X G>C	X	91873265	91873265	G	C	PCDH11X	c.3370G>C	NM_032968.5	NP_116750.1:p.(Ala1124Pro)	NC_000023.10:g.91873265G>C	(Likely) benign	1 lab	ecf012d38a
17:57288347 SMG8 T>C	17	57288347	57288347	T	C	SMG8	c.935T>C	NM_018149.7	NP_060619.4:p.(Phe312Ser)	NC_000017.10:g.57288347T>C	VUS	1 lab	ecf0f7f8c5
22:32239167 DEPDC5 AAG>A	22	32239167	32239170	AAG	A	DEPDC5	c.2604_2605del	NM_001242896.3	NP_001229825.1:p.(Lys868AsnfsTer14)	NC_000022.10:g.32239169_32239170del	VUS	1 lab	ecf23e704d
19:49120006 RPL18 C>T	19	49120006	49120006	C	T	RPL18	c.274G>A	NM_000979.4	NP_000970.1:p.(Val92Ile)	NC_000019.9:g.49120006C>T	(Likely) benign	1 lab	ecf2477c07
1:173795856 DARS2 A>G	1	173795856	173795856	A	G	DARS2	c.159A>G	NM_018122.5	NP_060592.2:p.(Thr53=)	NC_000001.10:g.173795856A>G	(Likely) benign	1 lab	ecf2568750
19:15291962 NOTCH3 T>C	19	15291962	15291962	T	C	NOTCH3	c.2804A>G	NM_000435.3	NP_000426.2:p.(Asn935Ser)	NC_000019.9:g.15291962T>C	VUS	1 lab	ecf2d6a4be
20:45867566 ZMYND8 T>TTGC	20	45867566	45867589	T	TTGC	ZMYND8	c.2598_2600dup	NM_001281775.3	NP_001268704.1:p.(Gln867dup)	NC_000020.10:g.45867587_45867589dup	VUS	1 lab	ecf4e8d860
18:2743755 SMCHD1 C>T	18	2743755	2743755	C	T	SMCHD1	c.3634-4C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2743755C>T	(Likely) benign	1 lab	ecf58f5d58
11:6942270 OR2D3 C>T	11	6942270	6942270	C	T	OR2D3	c.38C>T	NM_001004684.1	NP_001004684.1:p.(Ala13Val)	NC_000011.9:g.6942270C>T	VUS	1 lab	ecf59d6924
16:72991885 ZFHX3 C>T	16	72991885	72991885	C	T	ZFHX3	c.2160G>A	NM_006885.4	NP_008816.3:p.(Thr720=)	NC_000016.9:g.72991885C>T	VUS	1 lab	edb43502a9
7:40118411 CDK13 T>G	7	40118411	40118411	T	G	CDK13	c.2990T>G	NM_003718.5	NP_003709.3:p.(Phe997Cys)	NC_000007.13:g.40118411T>G	VUS	1 lab	2dbca556dd
5:98192304 CHD1 C>T	5	98192304	98192304	C	T	CHD1	c.4913G>A	NM_001270.4	NP_001261.2:p.(Arg1638Gln)	NC_000005.9:g.98192304C>T	(Likely) benign	1 lab	ecf737d0f6
17:11583136 DNAH9 AAGG>A	17	11583136	11583141	AAGG	A	DNAH9	c.3419_3421del	NM_001372.4	NP_001363.2:p.(Gly1140del)	NC_000017.10:g.11583139_11583141del	VUS	1 lab	ecf7486150
10:61831616 ANK3 T>C	10	61831616	61831616	T	C	ANK3	c.9023A>G	NM_020987.5	NP_066267.2:p.(His3008Arg)	NC_000010.10:g.61831616T>C	(Likely) benign	1 lab	ecf7712f7a
12:122079224 ORAI1 T>C	12	122079224	122079224	T	C	ORAI1	c.581T>C	NM_032790.4	NP_116179.2:p.(Leu194Pro)	NC_000012.11:g.122079224T>C	(Likely) pathogenic	1 lab	ecf8129d08
12:110238534 TRPV4 G>A	12	110238534	110238534	G	A	TRPV4	c.742C>T	NM_021625.5	NP_067638.3:p.(Arg248Cys)	NC_000012.11:g.110238534G>A	VUS	1 lab	ecf85d974a
16:88951466 CBFA2T3 G>A	16	88951466	88951466	G	A	CBFA2T3	c.1105C>T	NM_005187.6	NP_005178.4:p.(His369Tyr)	NC_000016.9:g.88951466G>A	(Likely) benign	1 lab	ecf9f32914
15:26793020 GABRB3 T>C	15	26793020	26793020	T	C	GABRB3	c.1342A>G	NM_000814.6	NP_000805.1:p.(Ile448Val)	NC_000015.9:g.26793020T>C	(Likely) benign	1 lab	ecfbb52bd6
9:34306434 KIF24 TTCTG>T	9	34306434	34306441	TTCTG	T	KIF24	c.625_628del	NM_194313.4	NP_919289.2:p.(Gln209ThrfsTer26)	NC_000009.11:g.34306438_34306441del	VUS	1 lab	ecfd47b9ef
11:67378931 NDUFV1 C>T	11	67378931	67378931	C	T	NDUFV1	c.971C>T	NM_007103.4	NP_009034.2:p.(Thr324Ile)	NC_000011.9:g.67378931C>T	VUS	1 lab	ecfd5f0d38
15:99251347 IGF1R T>C	15	99251347	99251347	T	C	IGF1R	c.640+11T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99251347T>C	(Likely) benign	1 lab	ecfe332c6b
12:57908628 MARS1 A>T	12	57908628	57908628	A	T	MARS1	c.2093A>T	NM_004990.4	NP_004981.2:p.(Lys698Met)	NC_000012.11:g.57908628A>T	VUS	1 lab	d99f5b5201
7:6026783 PMS2 T>C	7	6026783	6026783	T	C	PMS2	c.1613A>G	NM_000535.7	NP_000526.2:p.(Lys538Arg)	NC_000007.13:g.6026783T>C	VUS	1 lab	ecff57d8f2
18:44561425 KATNAL2 C>T	18	44561425	44561425	C	T	KATNAL2	c.52-11403C>T	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44561425C>T	VUS	1 lab	ecff83119a
12:48167133 SLC48A1 G>A	12	48167133	48167133	G	A	SLC48A1	c.46G>A	NM_017842.3	NP_060312.2:p.(Gly16Ser)	NC_000012.11:g.48167133G>A	VUS	1 lab	ecffc2a849
3:78666936 ROBO1 G>A	3	78666936	78666936	G	A	ROBO1	c.4131C>T	NM_002941.4	NP_002932.1:p.(Ala1377=)	NC_000003.11:g.78666936G>A	(Likely) benign	1 lab	ed00405b7b
9:133914614 LAMC3 C>A	9	133914614	133914614	C	A	LAMC3	c.1262C>A	NM_006059.4	NP_006050.3:p.(Ser421Ter)	NC_000009.11:g.133914614C>A	VUS	1 lab	ed025a8aff
2:241702511 KIF1A G>A	2	241702511	241702511	G	A	KIF1A	c.1950-3C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241702511G>A	(Likely) benign	1 lab	ed037a0839
6:90718577 BACH2 TGAAAGAAAGAAAGAAACAAA>T	6	90718577	90718613	TGAAAGAAAGAAAGAAACAAA	T	BACH2	c.-12-22_-12-3del	NM_021813.4	NP_068585.1:p.?	NC_000006.11:g.90718594_90718613del	(Likely) benign	1 lab	2dbcee5ff9
9:94124095 AUH C>T	9	94124095	94124095	C	T	AUH	c.77G>A	NM_001698.3	NP_001689.1:p.(Cys26Tyr)	NC_000009.11:g.94124095C>T	(Likely) benign	1 lab	ed05f5ddda
19:39996064 DLL3 C>T	19	39996064	39996064	C	T	DLL3	c.1066C>T	NM_203486.3	NP_982353.1:p.(Arg356Trp)	NC_000019.9:g.39996064C>T	VUS	1 lab	ed066ca6ba
1:27875260 AHDC1 C>T	1	27875260	27875260	C	T	AHDC1	c.3367G>A	NM_001371928.1	NP_001358857.1:p.(Ala1123Thr)	NC_000001.10:g.27875260C>T	VUS	1 lab	ed07ed9701
12:57441193 MYO1A T>C	12	57441193	57441193	T	C	MYO1A	c.326-2A>G	NM_005379.4	NP_005370.1:p.?	NC_000012.11:g.57441193T>C	VUS	1 lab	ed083f8268
4:108866659 CYP2U1 T>G	4	108866659	108866659	T	G	CYP2U1	c.1024T>G	NM_183075.3	NP_898898.1:p.(Leu342Val)	NC_000004.11:g.108866659T>G	VUS	1 lab	ed089462bc
3:42917233 CYP8B1 G>A	3	42917233	42917233	G	A	CYP8B1	c.76C>T	NM_004391.3	NP_004382.2:p.(Arg26Ter)	NC_000003.11:g.42917233G>A	VUS	1 lab	edd801ad95
1:173822684 DARS2 C>T	1	173822684	173822684	C	T	DARS2	c.1542C>T	NM_018122.5	NP_060592.2:p.(Leu514=)	NC_000001.10:g.173822684C>T	(Likely) benign	1 lab	ed0a417416
6:31832588 SLC44A4 C>A	6	31832588	31832588	C	A	SLC44A4	c.1926+5G>T	NM_025257.3	NP_079533.2:p.?	NC_000006.11:g.31832588C>A	(Likely) benign	1 lab	ed0b8c44ef
15:43010678 STARD9 G>A	15	43010678	43010678	G	A	STARD9	c.13808G>A	NM_020759.3	NP_065810.2:p.(Arg4603Gln)	NC_000015.9:g.43010678G>A	VUS	1 lab	ed0bd2914d
1:155753771 GON4L G>C	1	155753771	155753771	G	C	GON4L	c.1892+6C>G	NM_001282860.2	NP_001269789.1:p.?	NC_000001.10:g.155753771G>C	(Likely) benign	1 lab	ed0cb420fe
3:9990787 PRRT3 G>A	3	9990787	9990787	G	A	PRRT3	c.1013C>T	NM_207351.5	NP_997234.3:p.(Pro338Leu)	NC_000003.11:g.9990787G>A	(Likely) benign	1 lab	ed0d6bdc5b
X:139866051 LINC00632 C>T	X	139866051	139866051	C	T	LINC00632	n.1163C>T	NR_173140.2		NC_000023.10:g.139866051C>T	VUS	1 lab	ed1008edd5
12:56490338 ERBB3 A>C	12	56490338	56490338	A	C	ERBB3	c.2107A>C	NM_001982.4	NP_001973.2:p.(Ile703Leu)	NC_000012.11:g.56490338A>C	(Likely) benign	1 lab	ed106975ad
1:202710852 KDM5B T>TA	1	202710852	202710861	T	TA	KDM5B	c.2590-3dup	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202710861dup	(Likely) benign	1 lab	ed12684672
1:33237892 NHSL3 T>C	1	33237892	33237892	T	C	NHSL3	c.3112T>C	NM_020888.3	NP_065939.2:p.(Ser1038Pro)	NC_000001.10:g.33237892T>C	(Likely) benign	1 lab	ed12e98ccc
6:52303106 EFHC1 T>C	6	52303106	52303106	T	C	EFHC1	c.290T>C	NM_018100.4	NP_060570.2:p.(Leu97Pro)	NC_000006.11:g.52303106T>C	VUS	1 lab	ed1398cbea
19:42492974 ATP1A3 C>T	19	42492974	42492974	C	T	ATP1A3	c.7-260G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492974C>T	(Likely) benign	1 lab	ed1496e690
17:40354844 STAT5B T>C	17	40354844	40354844	T	C	STAT5B	c.2078-18A>G	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40354844T>C	(Likely) benign	1 lab	ed149ffff8
10:100191039 HPS1 G>A	10	100191039	100191039	G	A	HPS1	c.517C>T	NM_000195.5	NP_000186.2:p.(Arg173Ter)	NC_000010.10:g.100191039G>A	(Likely) pathogenic	1 lab	ed165e3f14
2:179586604 TTN C>A	2	179586604	179586604	C	A	TTN	c.22786G>T	NM_001267550.2	NP_001254479.2:p.(Asp7596Tyr)	NC_000002.11:g.179586604C>A	VUS	1 lab	ed16e00857
11:73680334 DNAJB13 G>A	11	73680334	73680334	G	A	DNAJB13	c.764G>A	NM_153614.4	NP_705842.2:p.(Arg255His)	NC_000011.9:g.73680334G>A	VUS	1 lab	ed170cb487
15:90210237 PLIN1 G>A	15	90210237	90210237	G	A	PLIN1	c.1139C>T	NM_002666.5	NP_002657.3:p.(Ala380Val)	NC_000015.9:g.90210237G>A	(Likely) benign	1 lab	ed1734ea0b
9:136405761 ADAMTSL2 T>G	9	136405761	136405761	T	G	ADAMTSL2	c.454T>G	NM_014694.4	NP_055509.2:p.(Cys152Gly)	NC_000009.11:g.136405761T>G	VUS	1 lab	ed17a4758d
7:6452461 DAGLB G>A	7	6452461	6452461	G	A	DAGLB	c.1550C>T	NM_139179.4	NP_631918.3:p.(Ala517Val)	NC_000007.13:g.6452461G>A	(Likely) benign	1 lab	ed17d2b39f
3:47195648 SETD2 C>T	3	47195648	47195648	C	T	SETD2	c.71+9696G>A	NM_014159.7	NP_054878.5:p.?	NC_000003.11:g.47195648C>T	(Likely) benign	1 lab	ed1852bbad
12:49439902 KMT2D C>T	12	49439902	49439902	C	T	KMT2D	c.4639G>A	NM_003482.4	NP_003473.3:p.(Ala1547Thr)	NC_000012.11:g.49439902C>T	VUS	1 lab	ed18ed75cc
7:48431746 ABCA13 C>A	7	48431746	48431746	C	A	ABCA13	c.11873+10C>A	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48431746C>A	(Likely) benign	1 lab	ed191e7087
3:172165678 GHSR C>T	3	172165678	172165678	C	T	GHSR	c.526G>A	NM_198407.2	NP_940799.1:p.(Gly176Arg)	NC_000003.11:g.172165678C>T	(Likely) pathogenic	1 lab	ed19a5af2c
16:1652553 IFT140 G>A	16	1652553	1652553	G	A	IFT140	c.187C>T	NM_014714.4	NP_055529.2:p.(Arg63Trp)	NC_000016.9:g.1652553G>A	VUS	1 lab	ed1c5e9382
13:52520559 ATP7B G>A	13	52520559	52520559	G	A	ATP7B	c.2921C>T	NM_000053.4	NP_000044.2:p.(Thr974Met)	NC_000013.10:g.52520559G>A	VUS	1 lab	ed1e248ec4
1:202121786 PTPN7 C>T	1	202121786	202121786	C	T	PTPN7	c.759G>A	NM_002832.4	NP_002823.4:p.(Ser253=)	NC_000001.10:g.202121786C>T	(Likely) benign	1 lab	ed1eccf91b
3:143100919 SLC9A9 G>T	3	143100919	143100919	G	T	SLC9A9	c.1507C>A	NM_173653.4	NP_775924.1:p.(Pro503Thr)	NC_000003.11:g.143100919G>T	(Likely) benign	1 lab	ed1f6ca4cc
X:38145348 RPGR CTCT>C	X	38145348	38145353	CTCT	C	RPGR	c.2901_2903del	NM_001034853.2	NP_001030025.1:p.(Glu969del)	NC_000023.10:g.38145351_38145353del	(Likely) benign	1 lab	ed1fe04f06
11:67376079 NDUFV1 A>C	11	67376079	67376079	A	C	NDUFV1	c.212A>C	NM_007103.4	NP_009034.2:p.(Lys71Thr)	NC_000011.9:g.67376079A>C	VUS	1 lab	ed200bdf1e
17:61562229 ACE A>G	17	61562229	61562229	A	G	ACE	c.1A>G	NM_152830.3	NP_690043.1:p.(Met1?)	NC_000017.10:g.61562229A>G	(Likely) benign	1 lab	30922a5979
8:145007019 PLEC C>T	8	145007019	145007019	C	T	PLEC	c.1679G>A	NM_201384.3	NP_958786.1:p.(Gly560Asp)	NC_000008.10:g.145007019C>T	VUS	1 lab	ed2215d34a
9:5921881 BRD10 G>GT	9	5921881	5921882	G	GT	BRD10	c.4114dup	NM_001017969.3	NP_001017969.2:p.(Thr1372AsnfsTer10)	NC_000009.11:g.5921882dup	VUS	1 lab	ed22589581
5:171766125 SH3PXD2B C>T	5	171766125	171766125	C	T	SH3PXD2B	c.1984G>A	NM_001017995.3	NP_001017995.1:p.(Asp662Asn)	NC_000005.9:g.171766125C>T	VUS	1 lab	ed23623aa3
5:6753083 TENT4A A>T	5	6753083	6753083	A	T	TENT4A	c.2117A>T	NM_006999.6	NP_008930.2:p.(His706Leu)	NC_000005.9:g.6753083A>T	(Likely) benign	1 lab	ed268cc797
20:50140514 NFATC2 G>T	20	50140514	50140514	G	T	NFATC2	c.266C>A	NM_012340.5	NP_036472.2:p.(Pro89Gln)	NC_000020.10:g.50140514G>T	(Likely) benign	1 lab	ed27c662fc
11:71939413 INPPL1 C>T	11	71939413	71939413	C	T	INPPL1	c.268C>T	NM_001567.4	NP_001558.3:p.(Arg90Cys)	NC_000011.9:g.71939413C>T	VUS	1 lab	ed28ab1fed
13:28498662 PDX1 G>C	13	28498662	28498662	G	C	PDX1	c.676G>C	NM_000209.4	NP_000200.1:p.(Asp226His)	NC_000013.10:g.28498662G>C	VUS	1 lab	ed29797507
2:26101123 ASXL2 T>C	2	26101123	26101123	T	C	ASXL2	c.-32A>G	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.26101123T>C	(Likely) benign	1 lab	ed2a4d32ad
2:233414144 TIGD1 G>A	2	233414144	233414144	G	A	TIGD1	c.449C>T	NM_145702.4	NP_663748.1:p.(Ala150Val)	NC_000002.11:g.233414144G>A	(Likely) benign	1 lab	ed2a67ac99
X:64722334 ZC3H12B C>T	X	64722334	64722334	C	T	ZC3H12B	c.1756C>T	NM_001010888.4	NP_001010888.3:p.(Arg586Cys)	NC_000023.10:g.64722334C>T	VUS	1 lab	ed2db8ea05
9:131085196 COQ4 G>A	9	131085196	131085196	G	A	COQ4	c.59G>A	NM_016035.5	NP_057119.3:p.(Arg20Gln)	NC_000009.11:g.131085196G>A	(Likely) benign	1 lab	ed2e576a49
1:154842330 KCNN3 TTGCTGCTGCTGCTGC>T	1	154842330	154842355	TTGCTGCTGCTGCTGC	T	KCNN3	c.96_110del	NM_002249.6	NP_002240.3:p.(Gln37_Gln41del)	NC_000001.10:g.154842341_154842355del	VUS	1 lab	ed2e854400
8:30702801 TEX15 TTA>T	8	30702801	30702804	TTA	T	TEX15	c.4880_4881del	NM_001350162.2	NP_001337091.1:p.(Ile1627LysfsTer3)	NC_000008.10:g.30702803_30702804del	VUS	1 lab	ed2f24fe90
17:7951872 ALOX15B G>A	17	7951872	7951872	G	A	ALOX15B	c.2020G>A	NM_001141.3	NP_001132.2:p.(Val674Ile)	NC_000017.10:g.7951872G>A	VUS	1 lab	ed2f9bdc34
4:107268805 AIMP1 G>C	4	107268805	107268805	G	C	AIMP1	c.895G>C	NM_001142416.2	NP_001135888.2:p.(Gly299Arg)	NC_000004.11:g.107268805G>C	VUS	1 lab	ed31f32dfa
19:2426054 TMPRSS9 A>G	19	2426054	2426054	A	G	TMPRSS9	c.3250A>G	NM_001395513.1	NP_001382442.1:p.(Arg1084Gly)	NC_000019.9:g.2426054A>G	VUS	1 lab	ed3216cf55
19:13189422 NFIX C>G	19	13189422	13189422	C	G	NFIX	c.956-5C>G	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13189422C>G	(Likely) benign	1 lab	ed322cc121
1:115576687 TSHB G>A	1	115576687	115576687	G	A	TSHB	c.256G>A	NM_000549.5	NP_000540.2:p.(Gly86Arg)	NC_000001.10:g.115576687G>A	VUS	1 lab	ed3379d5e1
X:154743900 TMLHE C>A	X	154743900	154743900	C	A	TMLHE	c.385G>T	NM_018196.4	NP_060666.1:p.(Asp129Tyr)	NC_000023.10:g.154743900C>A	VUS	1 lab	ed33de04e2
1:12785402 AADACL3 C>G	1	12785402	12785402	C	G	AADACL3	c.663C>G	NM_001103170.3	NP_001096640.2:p.(Ile221Met)	NC_000001.10:g.12785402C>G	(Likely) benign	1 lab	ed33ed014f
8:145006644 PLEC T>C	8	145006644	145006644	T	C	PLEC	c.1901A>G	NM_201384.3	NP_958786.1:p.(Glu634Gly)	NC_000008.10:g.145006644T>C	VUS	1 lab	ed34fcb066
7:31016139 GHRHR G>T	7	31016139	31016139	G	T	GHRHR	c.1070G>T	NM_000823.4	NP_000814.2:p.(Arg357Leu)	NC_000007.13:g.31016139G>T	VUS	1 lab	ed356a8b76
3:51696976 RAD54L2 A>G	3	51696976	51696976	A	G	RAD54L2	c.3944A>G	NM_015106.4	NP_055921.2:p.(Glu1315Gly)	NC_000003.11:g.51696976A>G	(Likely) benign	1 lab	ed36c1d66b
3:49136661 QARS1 G>A	3	49136661	49136661	G	A	QARS1	c.1640C>T	NM_005051.3	NP_005042.1:p.(Thr547Ile)	NC_000003.11:g.49136661G>A	VUS	1 lab	ed36f45ddf
15:33893735 RYR3 T>A	15	33893735	33893735	T	A	RYR3	c.1904T>A	NM_001036.6	NP_001027.3:p.(Leu635Gln)	NC_000015.9:g.33893735T>A	VUS	1 lab	ede041c928
6:51923261 PKHD1 G>A	6	51923261	51923261	G	A	PKHD1	c.1372C>T	NM_138694.4	NP_619639.3:p.(His458Tyr)	NC_000006.11:g.51923261G>A	(Likely) pathogenic	1 lab	ed389c7522
20:62103668 KCNQ2 C>T	20	62103668	62103668	C	T	KCNQ2	c.149G>A	NM_172107.4	NP_742105.1:p.(Arg50His)	NC_000020.10:g.62103668C>T	(Likely) benign	1 lab	ed3a3e5c3a
21:38132049 HLCS C>T	21	38132049	38132049	C	T	HLCS	c.2215G>A	NM_001352514.2	NP_001339443.1:p.(Glu739Lys)	NC_000021.8:g.38132049C>T	VUS	1 lab	ed3adb8625
15:85326044 ZNF592 A>G	15	85326044	85326044	A	G	ZNF592	c.138A>G	NM_014630.3	NP_055445.2:p.(Ile46Met)	NC_000015.9:g.85326044A>G	VUS	1 lab	ed3be63006
6:7405196 RIOK1 G>A	6	7405196	7405196	G	A	RIOK1	c.1038G>A	NM_031480.3	NP_113668.2:p.(Val346=)	NC_000006.11:g.7405196G>A	(Likely) benign	1 lab	ed3dad3649
X:91137905 PCDH11X G>A	X	91137905	91137905	G	A	PCDH11X	c.3033+3633G>A	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91137905G>A	VUS	1 lab	ed3db9f72b
19:50157988 SCAF1 G>T	19	50157988	50157988	G	T	SCAF1	c.3479G>T	NM_021228.3	NP_067051.2:p.(Gly1160Val)	NC_000019.9:g.50157988G>T	(Likely) benign	1 lab	ed3fcbb928
19:39025369 RYR1 A>G	19	39025369	39025369	A	G	RYR1	c.11269A>G	NM_000540.3	NP_000531.2:p.(Met3757Val)	NC_000019.9:g.39025369A>G	VUS	1 lab	ed40adec96
9:16435848 BNC2 T>C	9	16435848	16435848	T	C	BNC2	c.2344A>G	NM_017637.6	NP_060107.3:p.(Thr782Ala)	NC_000009.11:g.16435848T>C	(Likely) benign	1 lab	ed40c421d0
2:179394722 TTN C>T	2	179394722	179394722	C	T	TTN	c.106496G>A	NM_001267550.2	NP_001254479.2:p.(Gly35499Glu)	NC_000002.11:g.179394722C>T	(Likely) benign	1 lab	ed42388aec
10:1118242 WDR37 C>T	10	1118242	1118242	C	T	WDR37	c.138+9C>T	NM_014023.4	NP_054742.2:p.?	NC_000010.10:g.1118242C>T	(Likely) benign	1 lab	ed426c9e2d
X:2864043 ARSL C>T	X	2864043	2864043	C	T	ARSL	c.987G>A	NM_000047.3	NP_000038.2:p.(Met329Ile)	NC_000023.10:g.2864043C>T	(Likely) benign	1 lab	ed42db52ae
1:1560501 MIB2 G>A	1	1560501	1560501	G	A	MIB2	c.657G>A	NM_001170687.4	NP_001164158.3:p.(Val219=)	NC_000001.10:g.1560501G>A	(Likely) benign	1 lab	ed43e9e3bc
X:153220235 HCFC1 G>A	X	153220235	153220235	G	A	HCFC1	c.3615C>T	NM_005334.3	NP_005325.2:p.(Ser1205=)	NC_000023.10:g.153220235G>A	(Likely) benign	1 lab	309520e842
12:49425673 KMT2D C>T	12	49425673	49425673	C	T	KMT2D	c.12815G>A	NM_003482.4	NP_003473.3:p.(Gly4272Asp)	NC_000012.11:g.49425673C>T	(Likely) benign	1 lab	ed47aefcac
17:1173940 BHLHA9 C>T	17	1173940	1173940	C	T	BHLHA9	c.83C>T	NM_001164405.2	NP_001157877.1:p.(Pro28Leu)	NC_000017.10:g.1173940C>T	(Likely) benign	1 lab	ed49cf51c4
6:29644757 ZFP57 G>A	6	29644757	29644757	G	A	ZFP57	c.24C>T	NM_001109809.5	NP_001103279.2:p.(Ile8=)	NC_000006.11:g.29644757G>A	(Likely) benign	1 lab	ed4a588da5
17:7623073 DNAH2 G>A	17	7623073	7623073	G	A	DNAH2	c.21G>A	NM_020877.5	NP_065928.2:p.(Lys7=)	NC_000017.10:g.7623073G>A	(Likely) benign	1 lab	ed4c225cb9
17:39919246 JUP G>T	17	39919246	39919246	G	T	JUP	c.1486C>A	NM_002230.4	NP_002221.1:p.(Pro496Thr)	NC_000017.10:g.39919246G>T	VUS	1 lab	2dbe51d327
6:26027429 H4C2 G>A	6	26027429	26027429	G	A	H4C2	c.52C>T	NM_003544.3	NP_003535.1:p.(Arg18Cys)	NC_000006.11:g.26027429G>A	VUS	1 lab	ed4e7ab198
6:31838379 SLC44A4 C>T	6	31838379	31838379	C	T	SLC44A4	c.1037+1G>A	NM_025257.3	NP_079533.2:p.?	NC_000006.11:g.31838379C>T	VUS	1 lab	ed4f1f5cba
7:96635373 DLX6 G>GCAGCAA	7	96635373	96635379	G	GCAGCAA	DLX6	c.89_90insACAGCA	NM_005222.4	NP_005213.3:p.(Gln43_Gln44dup)	NC_000007.13:g.96635378_96635379insACAGCA	VUS	1 lab	ed4f3298ba
17:33592078 SLFN5 CTG>C	17	33592078	33592081	CTG	C	SLFN5	c.1860-11_1860-10del	NM_144975.4	NP_659412.3:p.?	NC_000017.10:g.33592080_33592081del	VUS	1 lab	ed4fc6f816
3:121415507 GOLGB1 T>C	3	121415507	121415507	T	C	GOLGB1	c.3863A>G	NM_001366282.2	NP_001353211.1:p.(Asn1288Ser)	NC_000003.11:g.121415507T>C	(Likely) benign	1 lab	ed50eb202c
19:12978719 MAST1 T>C	19	12978719	12978719	T	C	MAST1	c.2494T>C	NM_014975.3	NP_055790.1:p.(Ser832Pro)	NC_000019.9:g.12978719T>C	(Likely) benign	1 lab	ed5318617e
4:88537294 DSPP T>C	4	88537294	88537294	T	C	DSPP	c.3480T>C	NM_014208.3	NP_055023.2:p.(Ser1160=)	NC_000004.11:g.88537294T>C	(Likely) benign	1 lab	ed548579b9
12:124416362 DNAH10 C>T	12	124416362	124416362	C	T	DNAH10	c.13096C>T	NM_001372106.1	NP_001359035.1:p.(Arg4366Trp)	NC_000012.11:g.124416362C>T	VUS	1 lab	ed579e833e
17:60024312 MED13 G>A	17	60024312	60024312	G	A	MED13	c.6358C>T	NM_005121.3	NP_005112.2:p.(Pro2120Ser)	NC_000017.10:g.60024312G>A	VUS	1 lab	ed57db2728
X:41077839 USP9X C>T	X	41077839	41077839	C	T	USP9X	c.6424C>T	NM_001039591.3	NP_001034680.2:p.(Pro2142Ser)	NC_000023.10:g.41077839C>T	VUS	1 lab	ed586f0ce5
1:982213 AGRN G>C	1	982213	982213	G	C	AGRN	c.3264G>C	NM_198576.4	NP_940978.2:p.(Leu1088Phe)	NC_000001.10:g.982213G>C	(Likely) benign	1 lab	ed591a5c67
4:99363155 RAP1GDS1 G>C	4	99363155	99363155	G	C	RAP1GDS1	c.1711G>C	NM_001100427.2	NP_001093897.1:p.(Glu571Gln)	NC_000004.11:g.99363155G>C	VUS	1 lab	ed59262b80
17:73231284 NUP85 C>T	17	73231284	73231284	C	T	NUP85	c.1857C>T	NM_024844.5	NP_079120.1:p.(Thr619=)	NC_000017.10:g.73231284C>T	(Likely) benign	1 lab	309fb3cb80
9:27228230 TEK G>C	9	27228230	27228230	G	C	TEK	c.3227G>C	NM_000459.5	NP_000450.3:p.(Arg1076Pro)	NC_000009.11:g.27228230G>C	VUS	1 lab	ed5c0562ef
18:19752249 GATA6 C>G	18	19752249	19752249	C	G	GATA6	c.1135+9C>G	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19752249C>G	(Likely) benign	1 lab	ed5d3f8fee
16:70995976 HYDIN G>C	16	70995976	70995976	G	C	HYDIN	c.5854C>G	NM_001270974.2	NP_001257903.1:p.(Arg1952Gly)	NC_000016.9:g.70995976G>C	(Likely) benign	1 lab	ed5fe9ca12
4:37358037 NWD2 A>G	4	37358037	37358037	A	G	NWD2	c.290A>G	NM_001144990.2	NP_001138462.1:p.(Glu97Gly)	NC_000004.11:g.37358037A>G	(Likely) benign	1 lab	ed60a34850
9:98240360 PTCH1 C>T	9	98240360	98240360	C	T	PTCH1	c.1324G>A	NM_000264.5	NP_000255.2:p.(Val442Met)	NC_000009.11:g.98240360C>T	VUS	1 lab	ed661dddb5
1:160458951 SLAMF6 G>C	1	160458951	160458951	G	C	SLAMF6	c.806C>G	NM_001184714.2	NP_001171643.1:p.(Ala269Gly)	NC_000001.10:g.160458951G>C	(Likely) benign	1 lab	ed662facf4
15:28370143 HERC2 C>G	15	28370143	28370143	C	G	HERC2	c.12990+9G>C	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28370143C>G	(Likely) benign	1 lab	ed666aa7d1
5:74807253 CERT1 C>T	5	74807253	74807253	C	T	CERT1	c.-221G>A	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74807253C>T	(Likely) benign	1 lab	ed68a9de49
8:61763088 CHD7 C>T	8	61763088	61763088	C	T	CHD7	c.5441C>T	NM_017780.4	NP_060250.2:p.(Ala1814Val)	NC_000008.10:g.61763088C>T	VUS	1 lab	ed698dd66b
1:236998886 MTR G>C	1	236998886	236998886	G	C	MTR	c.1228G>C	NM_000254.3	NP_000245.2:p.(Ala410Pro)	NC_000001.10:g.236998886G>C	VUS	1 lab	ed69902862
5:71493209 MAP1B G>A	5	71493209	71493209	G	A	MAP1B	c.4027G>A	NM_005909.5	NP_005900.2:p.(Glu1343Lys)	NC_000005.9:g.71493209G>A	(Likely) benign	1 lab	ed6a2630f8
4:3180083 HTT C>T	4	3180083	3180083	C	T	HTT	c.4522C>T	NM_001388492.1	NP_001375421.1:p.(Arg1508Cys)	NC_000004.11:g.3180083C>T	VUS	1 lab	ed6a81786a
19:55872229 GARIN5B C>T	19	55872229	55872229	C	T	GARIN5B	c.803G>A	NM_001145402.2	NP_001138874.1:p.(Arg268His)	NC_000019.9:g.55872229C>T	(Likely) benign	1 lab	ed6b2f7845
17:15973819 NCOR1 G>C	17	15973819	15973819	G	C	NCOR1	c.4173C>G	NM_006311.4	NP_006302.2:p.(Asp1391Glu)	NC_000017.10:g.15973819G>C	VUS	1 lab	ed6f0a3802
1:201012574 CACNA1S A>G	1	201012574	201012574	A	G	CACNA1S	c.4883T>C	NM_000069.3	NP_000060.2:p.(Leu1628Pro)	NC_000001.10:g.201012574A>G	(Likely) benign	1 lab	ed6f418e1c
12:25706090 LMNTD1 TG>T	12	25706090	25706091	TG	T	LMNTD1	c.-119del	NM_001145728.2	NP_001139200.1:p.?	NC_000012.11:g.25706091del	VUS	1 lab	ed70062a49
20:44676200 SLC12A5 T>C	20	44676200	44676200	T	C	SLC12A5	c.1895T>C	NM_020708.5	NP_065759.1:p.(Ile632Thr)	NC_000020.10:g.44676200T>C	VUS	1 lab	ed701f71de
10:15634272 ITGA8 C>T	10	15634272	15634272	C	T	ITGA8	c.2243G>A	NM_003638.3	NP_003629.2:p.(Arg748His)	NC_000010.10:g.15634272C>T	(Likely) benign	1 lab	30a44c38c3
9:107515315 NIPSNAP3A TG>T	9	107515315	107515317	TG	T	NIPSNAP3A	c.402del	NM_015469.3	NP_056284.1:p.(Trp134CysfsTer4)	NC_000009.11:g.107515317del	VUS	1 lab	ed70cd16ce
7:11021995 PHF14 A>G	7	11021995	11021995	A	G	PHF14	c.113-4A>G	NM_001007157.2	NP_001007158.1:p.?	NC_000007.13:g.11021995A>G	VUS	1 lab	ed712a0f18
7:33945367 BMPER G>A	7	33945367	33945367	G	A	BMPER	c.133+9G>A	NM_001365308.1	NP_001352237.1:p.?	NC_000007.13:g.33945367G>A	(Likely) benign	1 lab	ed7160d9b3
2:182542978 NEUROD1 G>A	2	182542978	182542978	G	A	NEUROD1	c.610C>T	NM_002500.5	NP_002491.3:p.(Pro204Ser)	NC_000002.11:g.182542978G>A	(Likely) benign	1 lab	ed729143da
19:14038731 CC2D1A G>A	19	14038731	14038731	G	A	CC2D1A	c.2342G>A	NM_017721.5	NP_060191.3:p.(Gly781Glu)	NC_000019.9:g.14038731G>A	VUS	1 lab	ed72ddec67
10:71155251 HK1 T>C	10	71155251	71155251	T	C	HK1	c.2375+390T>C	NM_000188.3	NP_000179.2:p.?	NC_000010.10:g.71155251T>C	(Likely) benign	1 lab	ed762f74a4
19:1469467 APC2 C>A	19	1469467	1469467	C	A	APC2	c.6167C>A	NM_005883.3	NP_005874.1:p.(Pro2056Gln)	NC_000019.9:g.1469467C>A	(Likely) benign	1 lab	ed7660d9c2
3:123046610 ADCY5 C>T	3	123046610	123046610	C	T	ADCY5	c.1806-4G>A	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123046610C>T	(Likely) benign	1 lab	ed76e7e832
20:10026255 ANKEF1 G>A	20	10026255	10026255	G	A	ANKEF1	c.730G>A	NM_022096.6	NP_071379.3:p.(Val244Met)	NC_000020.10:g.10026255G>A	VUS	1 lab	ed7aec45a6
8:145741431 RECQL4 T>C	8	145741431	145741431	T	C	RECQL4	c.1072A>G	NM_004260.4	NP_004251.4:p.(Met358Val)	NC_000008.10:g.145741431T>C	(Likely) benign	1 lab	ed7c593524
3:180334721 CCDC39 A>G	3	180334721	180334721	A	G	CCDC39	c.2299T>C	NM_181426.2	NP_852091.1:p.(Leu767=)	NC_000003.11:g.180334721A>G	(Likely) benign	1 lab	ed7c763918
8:110492322 PKHD1L1 C>T	8	110492322	110492322	C	T	PKHD1L1	c.9281C>T	NM_177531.6	NP_803875.2:p.(Ser3094Phe)	NC_000008.10:g.110492322C>T	VUS	1 lab	ed7dfad7d8
9:139568309 AGPAT2 G>A	9	139568309	139568309	G	A	AGPAT2	c.732C>T	NM_006412.4	NP_006403.2:p.(Leu244=)	NC_000009.11:g.139568309G>A	(Likely) benign	1 lab	ed7f236a92
2:27700975 IFT172 G>A	2	27700975	27700975	G	A	IFT172	c.1054C>T	NM_015662.3	NP_056477.1:p.(His352Tyr)	NC_000002.11:g.27700975G>A	VUS	1 lab	ed7f5caa61
7:96653913 DLX5 C>G	7	96653913	96653913	C	G	DLX5	c.23G>C	NM_005221.6	NP_005212.1:p.(Arg8Thr)	NC_000007.13:g.96653913C>G	VUS	1 lab	ed7ffd7859
4:1985708 NELFA G>A	4	1985708	1985708	G	A	NELFA	c.1169C>T	NM_005663.5	NP_005654.4:p.(Ala390Val)	NC_000004.11:g.1985708G>A	(Likely) benign	1 lab	ed80367090
2:110917796 NPHP1 T>C	2	110917796	110917796	T	C	NPHP1	c.991A>G	NM_001128178.3	NP_001121650.1:p.(Thr331Ala)	NC_000002.11:g.110917796T>C	VUS	1 lab	ed806b7199
14:70263610 SLC10A1 A>G	14	70263610	70263610	A	G	SLC10A1	c.263T>C	NM_003049.4	NP_003040.1:p.(Ile88Thr)	NC_000014.8:g.70263610A>G	(Likely) pathogenic	1 lab	ed80ed2a16
7:19156742 TWIST1 C>A	7	19156742	19156742	C	A	TWIST1	c.203G>T	NM_000474.4	NP_000465.1:p.(Ser68Ile)	NC_000007.13:g.19156742C>A	VUS	1 lab	ed81c28df7
6:152563539 SYNE1 G>A	6	152563539	152563539	G	A	SYNE1	c.19729C>T	NM_182961.4	NP_892006.3:p.(Arg6577Trp)	NC_000006.11:g.152563539G>A	VUS	1 lab	ed81d7ca1f
5:177021260 TMED9 A>G	5	177021260	177021260	A	G	TMED9	c.532A>G	NM_017510.6	NP_059980.2:p.(Ile178Val)	NC_000005.9:g.177021260A>G	(Likely) benign	1 lab	ed82557f86
5:64859234 PPWD1 G>A	5	64859234	64859234	G	A	PPWD1	c.97G>A	NM_015342.4	NP_056157.1:p.(Ala33Thr)	NC_000005.9:g.64859234G>A	VUS	1 lab	ed82b2a463
21:47423882 COL6A1 C>T	21	47423882	47423882	C	T	COL6A1	c.3042C>T	NM_001848.3	NP_001839.2:p.(Arg1014=)	NC_000021.8:g.47423882C>T	(Likely) benign	1 lab	ed832aeea8
15:90213248 PLIN1 C>T	15	90213248	90213248	C	T	PLIN1	c.561G>A	NM_002666.5	NP_002657.3:p.(Val187=)	NC_000015.9:g.90213248C>T	VUS	1 lab	ed8533e237
16:2165390 PKD1 C>CG	16	2165390	2165396	C	CG	PKD1	c.2085dup	NM_001009944.3	NP_001009944.3:p.(Ala696ArgfsTer18)	NC_000016.9:g.2165396dup	(Likely) pathogenic	1 lab	ed85fa5644
19:1863039 KLF16 C>T	19	1863039	1863039	C	T	KLF16	c.457+1G>A	NM_031918.4	NP_114124.1:p.?	NC_000019.9:g.1863039C>T	VUS	1 lab	ed87796642
16:2140948 PKD1 C>CA	16	2140948	2140949	C	CA	PKD1	c.11939dup	NM_001009944.3	NP_001009944.3:p.(Ala3981GlyfsTer176)	NC_000016.9:g.2140949dup	(Likely) pathogenic	1 lab	ed8826d89d
13:39264176 FREM2 C>T	13	39264176	39264176	C	T	FREM2	c.2695C>T	NM_207361.6	NP_997244.4:p.(Arg899Ter)	NC_000013.10:g.39264176C>T	(Likely) pathogenic	1 lab	30a48e7511
1:201178509 IGFN1 G>C	1	201178509	201178509	G	C	IGFN1	c.4488G>C	NM_001164586.2	NP_001158058.1:p.(Arg1496Ser)	NC_000001.10:g.201178509G>C	(Likely) benign	1 lab	ed88ad26f0
7:56079483 PSPH A>G	7	56079483	56079483	A	G	PSPH	c.650T>C	NM_004577.4	NP_004568.2:p.(Val217Ala)	NC_000007.13:g.56079483A>G	(Likely) benign	1 lab	2dc05a23f4
4:57267029 PPAT A>G	4	57267029	57267029	A	G	PPAT	c.935T>C	NM_002703.5	NP_002694.3:p.(Ile312Thr)	NC_000004.11:g.57267029A>G	VUS	1 lab	ed8abf73d6
10:105816868 COL17A1 CGCCACCAACACCGCCACCTCCTCCACT>C	10	105816868	105816902	CGCCACCAACACCGCCACCTCCTCCACT	C	COL17A1	c.1303_1329del	NM_000494.4	NP_000485.3:p.(Ser435_Gly443del)	NC_000010.10:g.105816876_105816902del	VUS	1 lab	ed8cbbc5c1
1:22168866 HSPG2 C>T	1	22168866	22168866	C	T	HSPG2	c.8918G>A	NM_005529.7	NP_005520.4:p.(Gly2973Asp)	NC_000001.10:g.22168866C>T	VUS	1 lab	ed8d3104fb
3:12458274 PPARG C>G	3	12458274	12458274	C	G	PPARG	c.801C>G	NM_138711.6	NP_619725.3:p.(Pro267=)	NC_000003.11:g.12458274C>G	(Likely) benign	1 lab	ed8fe42672
8:105503168 LRP12 A>T	8	105503168	105503168	A	T	LRP12	c.2313T>A	NM_013437.5	NP_038465.1:p.(Asp771Glu)	NC_000008.10:g.105503168A>T	(Likely) benign	1 lab	ed902cc053
1:237947353 RYR2 G>A	1	237947353	237947353	G	A	RYR2	c.12341G>A	NM_001035.3	NP_001026.2:p.(Arg4114Gln)	NC_000001.10:g.237947353G>A	VUS	1 lab	2dc1bf2ab4
11:6661913 DCHS1 G>A	11	6661913	6661913	G	A	DCHS1	c.932C>T	NM_003737.4	NP_003728.1:p.(Thr311Met)	NC_000011.9:g.6661913G>A	VUS	1 lab	ed92536bf1
2:169728069 SPC25 GAAAA>G	2	169728069	169728083	GAAAA	G	SPC25	c.551-8_551-5del	NM_020675.4	NP_065726.1:p.?	NC_000002.11:g.169728080_169728083del	VUS	1 lab	ed925b4419
11:126301371 KIRREL3 C>T	11	126301371	126301371	C	T	KIRREL3	c.1639G>A	NM_032531.4	NP_115920.1:p.(Ala547Thr)	NC_000011.9:g.126301371C>T	(Likely) benign	1 lab	ed92c05741
9:139413103 NOTCH1 C>T	9	139413103	139413103	C	T	NOTCH1	c.1039G>A	NM_017617.5	NP_060087.3:p.(Gly347Ser)	NC_000009.11:g.139413103C>T	VUS	1 lab	ed938b783f
22:51160301 SHANK3 C>G	22	51160301	51160301	C	G	SHANK3	c.4265C>G	NM_001372044.2	NP_001358973.1:p.(Pro1422Arg)	NC_000022.10:g.51160301C>G	VUS	1 lab	ed940f802d
1:226567723 PARP1 C>G	1	226567723	226567723	C	G	PARP1	c.1443G>C	NM_001618.4	NP_001609.2:p.(Trp481Cys)	NC_000001.10:g.226567723C>G	VUS	1 lab	ed955c4bf6
12:124189069 TCTN2 AT>A	12	124189069	124189072	AT	A	TCTN2	c.1613-7del	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124189072del	(Likely) benign	1 lab	ed965c6a77
19:12760978 MAN2B1 C>A	19	12760978	12760978	C	A	MAN2B1	c.2105G>T	NM_000528.4	NP_000519.2:p.(Arg702Leu)	NC_000019.9:g.12760978C>A	VUS	1 lab	ed98ea2b2b
3:172165853 GHSR T>A	3	172165853	172165853	T	A	GHSR	c.351A>T	NM_198407.2	NP_940799.1:p.(Lys117Asn)	NC_000003.11:g.172165853T>A	VUS	1 lab	ed991438cd
13:25486941 CPAP G>T	13	25486941	25486941	G	T	CPAP	c.223C>A	NM_018451.5	NP_060921.3:p.(Leu75Ile)	NC_000013.10:g.25486941G>T	(Likely) benign	1 lab	ed99e749ce
5:122751742 CEP120 T>C	5	122751742	122751742	T	C	CEP120	c.283A>G	NM_001375405.1	NP_001362334.1:p.(Ile95Val)	NC_000005.9:g.122751742T>C	VUS	1 lab	ed9ae8299b
X:24580586 PCYT1B G>A	X	24580586	24580586	G	A	PCYT1B	c.934C>T	NM_004845.5	NP_004836.2:p.(Gln312Ter)	NC_000023.10:g.24580586G>A	VUS	1 lab	ed9bb80cd8
12:106826240 POLR3B T>C	12	106826240	106826240	T	C	POLR3B	c.1609T>C	NM_018082.6	NP_060552.4:p.(Phe537Leu)	NC_000012.11:g.106826240T>C	VUS	1 lab	ed9d41fbb9
17:78310056 RNF213 G>C	17	78310056	78310056	G	C	RNF213	c.4405G>C	NM_001256071.3	NP_001243000.2:p.(Val1469Leu)	NC_000017.10:g.78310056G>C	(Likely) benign	1 lab	eda27f59d3
1:100353589 AGL T>A	1	100353589	100353589	T	A	AGL	c.2737T>A	NM_000642.3	NP_000633.2:p.(Ser913Thr)	NC_000001.10:g.100353589T>A	(Likely) benign	1 lab	eda31b96e6
5:79027890 CMYA5 C>T	5	79027890	79027890	C	T	CMYA5	c.3302C>T	NM_153610.5	NP_705838.3:p.(Thr1101Ile)	NC_000005.9:g.79027890C>T	(Likely) benign	1 lab	eda38ddc0f
2:152438091 NEB C>T	2	152438091	152438091	C	T	NEB	c.16190G>A	NM_001164508.2	NP_001157980.2:p.(Arg5397His)	NC_000002.11:g.152438091C>T	VUS	1 lab	eda498091c
8:144997578 PLEC G>C	8	144997578	144997578	G	C	PLEC	c.6519C>G	NM_201384.3	NP_958786.1:p.(Phe2173Leu)	NC_000008.10:g.144997578G>C	(Likely) benign	1 lab	eda71d9e02
16:2164333 PKD1 TACCACTGAGA>T	16	2164333	2164345	TACCACTGAGA	T	PKD1	c.2681_2690del	NM_001009944.3	NP_001009944.3:p.(Phe894Ter)	NC_000016.9:g.2164336_2164345del	(Likely) pathogenic	1 lab	eda85681e1
2:5846323 MISSING G>A	2	5846323	5846323	G	A	MISSING				NC_000002.11:g.5846323G>A	VUS	1 lab	eda8dc6203
9:119460916 ASTN2 C>T	9	119460916	119460916	C	T	ASTN2	c.2806+27134G>A	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460916C>T	VUS	1 lab	eda9e8d1d2
7:151879136 KMT2C G>C	7	151879136	151879136	G	C	KMT2C	c.5809C>G	NM_170606.3	NP_733751.2:p.(Gln1937Glu)	NC_000007.13:g.151879136G>C	(Likely) benign	1 lab	edaac7a143
19:56382252 NLRP4 G>A	19	56382252	56382252	G	A	NLRP4	c.2414G>A	NM_134444.5	NP_604393.2:p.(Arg805His)	NC_000019.9:g.56382252G>A	(Likely) benign	1 lab	edab438f77
2:179458426 TTN C>T	2	179458426	179458426	C	T	TTN	c.58601G>A	NM_001267550.2	NP_001254479.2:p.(Ser19534Asn)	NC_000002.11:g.179458426C>T	(Likely) benign	1 lab	edab782997
2:99012315 CNGA3 G>A	2	99012315	99012315	G	A	CNGA3	c.682G>A	NM_001298.3	NP_001289.1:p.(Glu228Lys)	NC_000002.11:g.99012315G>A	VUS	1 lab	edad439687
19:10476225 TYK2 A>G	19	10476225	10476225	A	G	TYK2	c.979T>C	NM_003331.5	NP_003322.3:p.(Trp327Arg)	NC_000019.9:g.10476225A>G	(Likely) benign	1 lab	edad90a911
17:76557909 DNAH17 T>TG	17	76557909	76557910	T	TG	DNAH17	c.1722dup	NM_173628.4	NP_775899.3:p.(Ile575HisfsTer53)	NC_000017.10:g.76557910dup	VUS	1 lab	edadb8420c
18:14843065 ANKRD30B G>T	18	14843065	14843065	G	T	ANKRD30B	c.3151G>T	NM_001367607.2	NP_001354536.1:p.(Glu1051Ter)	NC_000018.9:g.14843065G>T	VUS	1 lab	edaf9fb1ef
19:11097224 SMARCA4 G>A	19	11097224	11097224	G	A	SMARCA4	c.715G>A	NM_003072.5	NP_003063.2:p.(Gly239Ser)	NC_000019.9:g.11097224G>A	VUS	1 lab	edb16707dc
2:198353919 HSPD1 T>C	2	198353919	198353919	T	C	HSPD1	c.1022A>G	NM_002156.5	NP_002147.2:p.(Asp341Gly)	NC_000002.11:g.198353919T>C	VUS	1 lab	edb26382e3
15:90168938 TICRR TAGTAAG>T	15	90168938	90168949	TAGTAAG	T	TICRR	c.5403_5408del	NM_152259.4	NP_689472.3:p.(Ser1802_Lys1803del)	NC_000015.9:g.90168944_90168949del	(Likely) benign	1 lab	edb280097c
14:75508329 MLH3 G>C	14	75508329	75508329	G	C	MLH3	c.3454C>G	NM_001040108.2	NP_001035197.1:p.(Arg1152Gly)	NC_000014.8:g.75508329G>C	VUS	1 lab	edb7369543
15:89417659 ACAN C>G	15	89417659	89417659	C	G	ACAN	c.7654C>G	NM_001369268.1	NP_001356197.1:p.(Gln2552Glu)	NC_000015.9:g.89417659C>G	VUS	1 lab	edb8e6494a
20:50342399 ATP9A C>T	20	50342399	50342399	C	T	ATP9A	c.286G>A	NM_006045.3	NP_006036.1:p.(Glu96Lys)	NC_000020.10:g.50342399C>T	VUS	1 lab	edb958549a
11:64323785 SLC22A11 G>A	11	64323785	64323785	G	A	SLC22A11	c.314G>A	NM_018484.4	NP_060954.1:p.(Trp105Ter)	NC_000011.9:g.64323785G>A	VUS	1 lab	edbbe651ff
2:170101207 LRP2 G>C	2	170101207	170101207	G	C	LRP2	c.3426C>G	NM_004525.3	NP_004516.2:p.(Asn1142Lys)	NC_000002.11:g.170101207G>C	(Likely) benign	1 lab	edbcb9941a
1:144880832 PDE4DIP T>C	1	144880832	144880832	T	C	PDE4DIP	c.3994A>G	NM_001395426.1	NP_001382355.1:p.(Lys1332Glu)	NC_000001.10:g.144880832T>C	VUS	1 lab	edbd1aa1ee
2:61510294 USP34 G>C	2	61510294	61510294	G	C	USP34	c.4984C>G	NM_014709.4	NP_055524.3:p.(Leu1662Val)	NC_000002.11:g.61510294G>C	VUS	1 lab	edbe8fd923
2:179540478 TTN G>T	2	179540478	179540478	G	T	TTN	c.34457C>A	NM_001267550.2	NP_001254479.2:p.(Ser11486Tyr)	NC_000002.11:g.179540478G>T	VUS	1 lab	d9a255164c
6:7585392 DSP A>T	6	7585392	7585392	A	T	DSP	c.7897A>T	NM_004415.4	NP_004406.2:p.(Ile2633Phe)	NC_000006.11:g.7585392A>T	VUS	1 lab	edc1a37f3a
6:129511389 LAMA2 G>A	6	129511389	129511389	G	A	LAMA2	c.1507G>A	NM_000426.4	NP_000417.3:p.(Gly503Ser)	NC_000006.11:g.129511389G>A	VUS	1 lab	edc2310e0b
2:109382672 RANBP2 G>T	2	109382672	109382672	G	T	RANBP2	c.5677G>T	NM_006267.5	NP_006258.3:p.(Val1893Leu)	NC_000002.11:g.109382672G>T	VUS	1 lab	edc4497d64
4:1801151 FGFR3 C>T	4	1801151	1801151	C	T	FGFR3	c.280C>T	NM_000142.5	NP_000133.1:p.(Leu94=)	NC_000004.11:g.1801151C>T	(Likely) benign	1 lab	edc4cc7db8
2:119729110 MARCO G>T	2	119729110	119729110	G	T	MARCO	c.460G>T	NM_006770.4	NP_006761.1:p.(Gly154Cys)	NC_000002.11:g.119729110G>T	VUS	1 lab	edc67e242f
11:45948379 LARGE2 C>T	11	45948379	45948379	C	T	LARGE2	c.1282C>T	NM_001300721.2	NP_001287650.1:p.(Arg428Trp)	NC_000011.9:g.45948379C>T	VUS	1 lab	edc9ae5bc8
14:73730494 PAPLN G>GT	14	73730494	73730495	G	GT	PAPLN	c.2861+4_2861+5insT	NM_001365906.3	NP_001352835.1:p.?	NC_000014.8:g.73730494_73730495insT	VUS	1 lab	edcc2cbdb1
9:5090877 JAK2 A>G	9	5090877	5090877	A	G	JAK2	c.3025A>G	NM_004972.4	NP_004963.1:p.(Lys1009Glu)	NC_000009.11:g.5090877A>G	VUS	1 lab	edcd9101c5
10:97442457 TCTN3 G>A	10	97442457	97442457	G	A	TCTN3	c.1403C>T	NM_015631.6	NP_056446.4:p.(Ala468Val)	NC_000010.10:g.97442457G>A	(Likely) benign	1 lab	edced92b75
13:25483943 CPAP G>A	13	25483943	25483943	G	A	CPAP	c.850C>T	NM_018451.5	NP_060921.3:p.(Arg284Cys)	NC_000013.10:g.25483943G>A	(Likely) benign	1 lab	edd34968c7
X:101571983 NXF2 G>A	X	101571983	101571983	G	A	NXF2	c.107G>A	NM_022053.4	NP_071336.1:p.(Arg36Gln)	NC_000023.10:g.101571983G>A	(Likely) benign	1 lab	edd36492ab
12:116429253 MED13L T>C	12	116429253	116429253	T	C	MED13L	c.3506A>G	NM_015335.5	NP_056150.1:p.(Asn1169Ser)	NC_000012.11:g.116429253T>C	VUS	1 lab	edd4750b21
1:104068822 RNPC3 G>A	1	104068822	104068822	G	A	RNPC3	c.130G>A	NM_017619.4	NP_060089.1:p.(Glu44Lys)	NC_000001.10:g.104068822G>A	VUS	1 lab	edd6a4d603
6:51875256 PKHD1 G>C	6	51875256	51875256	G	C	PKHD1	c.5602C>G	NM_138694.4	NP_619639.3:p.(Pro1868Ala)	NC_000006.11:g.51875256G>C	VUS	1 lab	edd8c456bf
5:37187541 CPLANE1 A>G	5	37187541	37187541	A	G	CPLANE1	c.4055T>C	NM_001384732.1	NP_001371661.1:p.(Ile1352Thr)	NC_000005.9:g.37187541A>G	VUS	1 lab	edd8fefc9e
11:6643576 DCHS1 C>T	11	6643576	6643576	C	T	DCHS1	c.9331G>A	NM_003737.4	NP_003728.1:p.(Gly3111Arg)	NC_000011.9:g.6643576C>T	VUS	1 lab	edd9900d1a
8:6272370 MCPH1 G>C	8	6272370	6272370	G	C	MCPH1	c.199G>C	NM_024596.5	NP_078872.3:p.(Gly67Arg)	NC_000008.10:g.6272370G>C	VUS	1 lab	edd9cd3330
X:150912296 CNGA2 G>A	X	150912296	150912296	G	A	CNGA2	c.1321G>A	NM_005140.3	NP_005131.1:p.(Ala441Thr)	NC_000023.10:g.150912296G>A	VUS	1 lab	eddaa205e9
20:39316938 MAFB T>C	20	39316938	39316938	T	C	MAFB	c.553A>G	NM_005461.5	NP_005452.2:p.(Thr185Ala)	NC_000020.10:g.39316938T>C	VUS	1 lab	eddac93949
13:100635016 ZIC2 A>C	13	100635016	100635016	A	C	ZIC2	c.698A>C	NM_007129.5	NP_009060.2:p.(His233Pro)	NC_000013.10:g.100635016A>C	VUS	1 lab	eddbe33477
5:149360505 SLC26A2 G>A	5	149360505	149360505	G	A	SLC26A2	c.1349G>A	NM_000112.4	NP_000103.2:p.(Gly450Asp)	NC_000005.9:g.149360505G>A	(Likely) pathogenic	1 lab	eddc3480f4
5:60448579 NDUFAF2 C>T	5	60448579	60448579	C	T	NDUFAF2	c.307C>T	NM_174889.5	NP_777549.1:p.(Gln103Ter)	NC_000005.9:g.60448579C>T	VUS	1 lab	eddc6f40f2
20:61039911 GATA5 C>T	20	61039911	61039911	C	T	GATA5	c.1175G>A	NM_080473.5	NP_536721.1:p.(Cys392Tyr)	NC_000020.10:g.61039911C>T	VUS	1 lab	eddc7de688
11:17632528 OTOG C>T	11	17632528	17632528	C	T	OTOG	c.5681C>T	NM_001292063.2	NP_001278992.1:p.(Thr1894Met)	NC_000011.9:g.17632528C>T	(Likely) benign	1 lab	edddb102f5
15:89873423 POLG C>G	15	89873423	89873423	C	G	POLG	c.744G>C	NM_002693.3	NP_002684.1:p.(Glu248Asp)	NC_000015.9:g.89873423C>G	VUS	1 lab	edde00a30d
17:36091606 HNF1B G>A	17	36091606	36091606	G	A	HNF1B	c.1025C>T	NM_000458.4	NP_000449.1:p.(Ser342Phe)	NC_000017.10:g.36091606G>A	VUS	1 lab	ede1fcb96d
X:140786492 SPANXD A>G	X	140786492	140786492	A	G	SPANXD	c.71T>C	NM_032417.4	NP_115793.1:p.(Met24Thr)	NC_000023.10:g.140786492A>G	VUS	1 lab	ede2525fdf
X:53223593 KDM5C C>T	X	53223593	53223593	C	T	KDM5C	c.3766G>A	NM_004187.5	NP_004178.2:p.(Glu1256Lys)	NC_000023.10:g.53223593C>T	VUS	1 lab	ede30531e0
5:162832 PLEKHG4B C>T	5	162832	162832	C	T	PLEKHG4B	c.2650-5C>T	NM_052909.5	NP_443141.4:p.?	NC_000005.9:g.162832C>T	(Likely) benign	1 lab	ede43f94b0
1:45480184 UROD T>G	1	45480184	45480184	T	G	UROD	c.710T>G	NM_000374.5	NP_000365.3:p.(Ile237Ser)	NC_000001.10:g.45480184T>G	VUS	1 lab	ede4ce4420
10:17110722 CUBN G>A	10	17110722	17110722	G	A	CUBN	c.2673C>T	NM_001081.3	NP_001072.2:p.(Cys891=)	NC_000010.10:g.17110722G>A	(Likely) benign	1 lab	30aa0d4c20
18:22030747 IMPACT A>C	18	22030747	22030747	A	C	IMPACT	c.899A>C	NM_018439.4	NP_060909.2:p.(Glu300Ala)	NC_000018.9:g.22030747A>C	VUS	1 lab	ede7ae6e22
12:58143031 CDK4 G>T	12	58143031	58143031	G	T	CDK4	c.753C>A	NM_000075.4	NP_000066.1:p.(Pro251=)	NC_000012.11:g.58143031G>T	(Likely) benign	1 lab	ede7db412a
18:19321714 MIB1 CT>C	18	19321714	19321715	CT	C	MIB1	c.171del	NM_020774.4	NP_065825.1:p.(Ala58ProfsTer63)	NC_000018.9:g.19321715del	VUS	1 lab	ede8a85f8a
7:4821352 AP5Z1 G>C	7	4821352	4821352	G	C	AP5Z1	c.333G>C	NM_014855.3	NP_055670.1:p.(Gln111His)	NC_000007.13:g.4821352G>C	(Likely) benign	1 lab	ede8ac16d2
22:39629476 PDGFB C>T	22	39629476	39629476	C	T	PDGFB	c.214G>A	NM_002608.4	NP_002599.1:p.(Glu72Lys)	NC_000022.10:g.39629476C>T	VUS	1 lab	ede963f1d0
11:20129244 NAV2 G>A	11	20129244	20129244	G	A	NAV2	c.6876G>A	NM_145117.5	NP_660093.2:p.(Val2292=)	NC_000011.9:g.20129244G>A	(Likely) benign	1 lab	edeb278925
17:73725481 ITGB4 C>T	17	73725481	73725481	C	T	ITGB4	c.702C>T	NM_000213.5	NP_000204.3:p.(Gly234=)	NC_000017.10:g.73725481C>T	(Likely) benign	1 lab	edec832eee
6:51799118 PKHD1 C>T	6	51799118	51799118	C	T	PKHD1	c.5911G>A	NM_138694.4	NP_619639.3:p.(Gly1971Ser)	NC_000006.11:g.51799118C>T	VUS	1 lab	edec961317
12:124184296 TCTN2 C>G	12	124184296	124184296	C	G	TCTN2	c.1551C>G	NM_024809.5	NP_079085.2:p.(His517Gln)	NC_000012.11:g.124184296C>G	VUS	1 lab	edecd26327
12:88442191 RLIG1 G>C	12	88442191	88442191	G	C	RLIG1	c.970G>C	NM_001009894.3	NP_001009894.2:p.(Asp324His)	NC_000012.11:g.88442191G>C	(Likely) benign	1 lab	eded64478a
19:2396536 TMPRSS9 G>A	19	2396536	2396536	G	A	TMPRSS9	c.143-1G>A	NM_001395513.1	NP_001382442.1:p.?	NC_000019.9:g.2396536G>A	VUS	1 lab	ededf51d04
7:6027138 PMS2 G>A	7	6027138	6027138	G	A	PMS2	c.1258C>T	NM_000535.7	NP_000526.2:p.(Leu420=)	NC_000007.13:g.6027138G>A	(Likely) benign	1 lab	edef8dc639
5:178418945 GRM6 T>C	5	178418945	178418945	T	C	GRM6	c.644A>G	NM_000843.4	NP_000834.2:p.(Tyr215Cys)	NC_000005.9:g.178418945T>C	VUS	1 lab	edeff6f16e
8:37696528 ADGRA2 G>T	8	37696528	37696528	G	T	ADGRA2	c.2314G>T	NM_032777.10	NP_116166.9:p.(Val772Leu)	NC_000008.10:g.37696528G>T	(Likely) benign	1 lab	edf0a230cd
10:79760817 POLR3A C>G	10	79760817	79760817	C	G	POLR3A	c.2395G>C	NM_007055.4	NP_008986.2:p.(Val799Leu)	NC_000010.10:g.79760817C>G	VUS	1 lab	edf0df0c97
17:80367286 OGFOD3 G>A	17	80367286	80367286	G	A	OGFOD3	c.381C>T	NM_024648.3	NP_078924.1:p.(Ser127=)	NC_000017.10:g.80367286G>A	(Likely) benign	1 lab	edf1c59980
5:126140465 LMNB1 C>T	5	126140465	126140465	C	T	LMNB1	c.360-3C>T	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126140465C>T	(Likely) benign	1 lab	edf1e67782
X:106845489 FRMPD3 C>T	X	106845489	106845489	C	T	FRMPD3	c.4220C>T	NM_001388459.1	NP_001375388.1:p.(Ser1407Leu)	NC_000023.10:g.106845489C>T	(Likely) benign	1 lab	edf32fed83
2:39187693 ARHGEF33 GGCC>G	2	39187693	39187706	GGCC	G	ARHGEF33	c.2258_2260del	NM_001145451.5	NP_001138923.2:p.(Ala753del)	NC_000002.11:g.39187704_39187706del	VUS	1 lab	edf48beda7
2:239229323 TRAF3IP1 G>A	2	239229323	239229323	G	A	TRAF3IP1	c.20G>A	NM_015650.4	NP_056465.2:p.(Arg7Lys)	NC_000002.11:g.239229323G>A	VUS	1 lab	edf48d17cd
18:29171933 TTR C>T	18	29171933	29171933	C	T	TTR	c.68C>T	NM_000371.4	NP_000362.1:p.(Thr23Met)	NC_000018.9:g.29171933C>T	VUS	1 lab	edf4d9e51b
2:179440616 TTN T>G	2	179440616	179440616	T	G	TTN	c.70243A>C	NM_001267550.2	NP_001254479.2:p.(Met23415Leu)	NC_000002.11:g.179440616T>G	VUS	1 lab	2dc6c4564a
13:108861887 LIG4 C>T	13	108861887	108861887	C	T	LIG4	c.1730G>A	NM_206937.2	NP_996820.1:p.(Arg577His)	NC_000013.10:g.108861887C>T	VUS	1 lab	edf7263438
1:204518502 MDM4 T>C	1	204518502	204518502	T	C	MDM4	c.1165T>C	NM_002393.5	NP_002384.2:p.(Cys389Arg)	NC_000001.10:g.204518502T>C	VUS	1 lab	edf74daec7
10:32326462 KIF5B T>A	10	32326462	32326462	T	A	KIF5B	c.572A>T	NM_004521.3	NP_004512.1:p.(His191Leu)	NC_000010.10:g.32326462T>A	VUS	1 lab	edf89110b1
2:71755506 DYSF T>G	2	71755506	71755506	T	G	DYSF	c.1355T>G	NM_001130987.2	NP_001124459.1:p.(Val452Gly)	NC_000002.11:g.71755506T>G	VUS	1 lab	edf979ea47
X:20190563 RPS6KA3 C>G	X	20190563	20190563	C	G	RPS6KA3	c.1353+301G>C	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20190563C>G	(Likely) benign	1 lab	edfb202945
15:48760723 FBN1 C>T	15	48760723	48760723	C	T	FBN1	c.4468G>A	NM_000138.5	NP_000129.3:p.(Glu1490Lys)	NC_000015.9:g.48760723C>T	(Likely) pathogenic	1 lab	2dc808f7ad
5:55203261 IL31RA T>A	5	55203261	55203261	T	A	IL31RA	c.1327T>A	NM_139017.6	NP_620586.3:p.(Ser443Thr)	NC_000005.9:g.55203261T>A	(Likely) benign	1 lab	2dcb00d340
16:2141101 PKD1 G>A	16	2141101	2141101	G	A	PKD1	c.11787C>T	NM_001009944.3	NP_001009944.3:p.(Arg3929=)	NC_000016.9:g.2141101G>A	(Likely) benign	1 lab	edfe72387e
11:68125204 LRP5 C>G	11	68125204	68125204	C	G	LRP5	c.575C>G	NM_002335.4	NP_002326.2:p.(Ser192Trp)	NC_000011.9:g.68125204C>G	VUS	1 lab	ee6a59496a
16:89350117 ANKRD11 C>T	16	89350117	89350117	C	T	ANKRD11	c.2833G>A	NM_013275.6	NP_037407.4:p.(Ala945Thr)	NC_000016.9:g.89350117C>T	(Likely) benign	1 lab	edff9c58ea
16:1306986 TPSD1 C>T	16	1306986	1306986	C	T	TPSD1	c.443C>T	NM_012217.3	NP_036349.1:p.(Thr148Met)	NC_000016.9:g.1306986C>T	VUS	1 lab	ee01da9a22
4:94128586 GRID2 G>A	4	94128586	94128586	G	A	GRID2	c.767G>A	NM_001510.4	NP_001501.2:p.(Cys256Tyr)	NC_000004.11:g.94128586G>A	VUS	1 lab	ee03a5b563
5:637838 CEP72 G>A	5	637838	637838	G	A	CEP72	c.1111G>A	NM_018140.4	NP_060610.2:p.(Asp371Asn)	NC_000005.9:g.637838G>A	VUS	1 lab	ee03cab52c
6:42025210 TAF8 T>G	6	42025210	42025210	T	G	TAF8	c.448T>G	NM_138572.3	NP_612639.2:p.(Phe150Val)	NC_000006.11:g.42025210T>G	VUS	1 lab	ee04c4c5dd
3:46942896 PTH1R T>TC	3	46942896	46942901	T	TC	PTH1R	c.1050-3dup	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46942901dup	(Likely) benign	1 lab	ee04cc9ba5
X:153296525 MECP2 C>T	X	153296525	153296525	C	T	MECP2	c.790G>A	NM_001110792.2	NP_001104262.1:p.(Gly264Ser)	NC_000023.10:g.153296525C>T	VUS	1 lab	ee04efaea6
1:17265567 CROCC C>T	1	17265567	17265567	C	T	CROCC	c.1538C>T	NM_014675.5	NP_055490.4:p.(Pro513Leu)	NC_000001.10:g.17265567C>T	VUS	1 lab	ee05eb5690
1:181689433 CACNA1E G>A	1	181689433	181689433	G	A	CACNA1E	c.1843G>A	NM_001205293.3	NP_001192222.1:p.(Val615Ile)	NC_000001.10:g.181689433G>A	(Likely) benign	1 lab	ee06f7bc6f
8:110457154 PKHD1L1 G>A	8	110457154	110457154	G	A	PKHD1L1	c.5056G>A	NM_177531.6	NP_803875.2:p.(Val1686Ile)	NC_000008.10:g.110457154G>A	VUS	1 lab	ee08b19ecd
2:241722487 KIF1A T>C	2	241722487	241722487	T	C	KIF1A	c.838A>G	NM_004321.8	NP_004312.2:p.(Lys280Glu)	NC_000002.11:g.241722487T>C	VUS	1 lab	2dcf1796bf
7:44184832 GCK C>T	7	44184832	44184832	C	T	GCK	c.1301G>A	NM_000162.5	NP_000153.1:p.(Cys434Tyr)	NC_000007.13:g.44184832C>T	(Likely) pathogenic	1 lab	ee0a482e45
2:44573481 PREPL T>TGTTTTCTGGAAGGGGTTTTTC	2	44573481	44573509	T	TGTTTTCTGGAAGGGGTTTTTC	PREPL	c.-21_-1dup	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44573489_44573509dup	VUS	1 lab	ee0caa39e8
19:1241836 ATP5F1D C>CGCCCGCCGCTGCCATGCT	19	1241836	1241863	C	CGCCCGCCGCTGCCATGCT	ATP5F1D	c.-4_14dup	NM_001687.5	NP_001678.1:p.(Ala5_Leu6insAlaMetLeuProAlaAla)	NC_000019.9:g.1241846_1241863dup	VUS	1 lab	ee0d36a528
8:8748032 MFHAS1 G>C	8	8748032	8748032	G	C	MFHAS1	c.2537C>G	NM_004225.3	NP_004216.2:p.(Ala846Gly)	NC_000008.10:g.8748032G>C	(Likely) benign	1 lab	ee0d4af0e4
6:43100425 PTK7 A>T	6	43100425	43100425	A	T	PTK7	c.1228A>T	NM_002821.5	NP_002812.2:p.(Thr410Ser)	NC_000006.11:g.43100425A>T	(Likely) benign	1 lab	ee10826ae7
X:142605182 SPANXN3 G>C	X	142605182	142605182	G	C	SPANXN3	c.38C>G	NM_001009609.4	NP_001009609.2:p.(Thr13Arg)	NC_000023.10:g.142605182G>C	(Likely) benign	1 lab	ee1218cba6
10:71647214 COL13A1 T>C	10	71647214	71647214	T	C	COL13A1	c.516T>C	NM_001368882.1	NP_001355811.1:p.(Gly172=)	NC_000010.10:g.71647214T>C	(Likely) benign	1 lab	ee12fdc841
2:170077051 LRP2 A>G	2	170077051	170077051	A	G	LRP2	c.5561T>C	NM_004525.3	NP_004516.2:p.(Ile1854Thr)	NC_000002.11:g.170077051A>G	VUS	1 lab	ee14c35f5d
2:89028797 RPIA C>T	2	89028797	89028797	C	T	RPIA	c.404C>T	NM_144563.3	NP_653164.2:p.(Ala135Val)	NC_000002.11:g.89028797C>T	VUS	1 lab	ee14f29c51
1:230390954 GALNT2 A>G	1	230390954	230390954	A	G	GALNT2	c.1010-10A>G	NM_004481.5	NP_004472.1:p.?	NC_000001.10:g.230390954A>G	(Likely) benign	1 lab	ee1569d8b3
10:102247537 SEC31B C>T	10	102247537	102247537	C	T	SEC31B	c.3376G>A	NM_015490.4	NP_056305.1:p.(Val1126Met)	NC_000010.10:g.102247537C>T	VUS	1 lab	ee15ee48eb
10:93668222 FGFBP3 G>C	10	93668222	93668222	G	C	FGFBP3	c.505C>G	NM_152429.5	NP_689642.3:p.(Arg169Gly)	NC_000010.10:g.93668222G>C	VUS	1 lab	ee16aa1e97
16:3820723 CREBBP T>A	16	3820723	3820723	T	A	CREBBP	c.2728A>T	NM_004380.3	NP_004371.2:p.(Thr910Ser)	NC_000016.9:g.3820723T>A	(Likely) benign	1 lab	ee19f35c5e
6:33423998 ZBTB9 G>T	6	33423998	33423998	G	T	ZBTB9	c.1121G>T	NM_152735.4	NP_689948.1:p.(Gly374Val)	NC_000006.11:g.33423998G>T	VUS	1 lab	ee1a124c3c
16:88793174 PIEZO1 G>C	16	88793174	88793174	G	C	PIEZO1	c.3648C>G	NM_001142864.4	NP_001136336.2:p.(Asp1216Glu)	NC_000016.9:g.88793174G>C	VUS	1 lab	ee1a491bf8
9:140450001 DPH7 C>T	9	140450001	140450001	C	T	DPH7	c.1049G>A	NM_138778.5	NP_620133.1:p.(Arg350Gln)	NC_000009.11:g.140450001C>T	(Likely) benign	1 lab	ee1ae56167
7:42004899 GLI3 G>C	7	42004899	42004899	G	C	GLI3	c.3772C>G	NM_000168.6	NP_000159.3:p.(Leu1258Val)	NC_000007.13:g.42004899G>C	(Likely) benign	1 lab	ee1afb7f06
11:76867985 MYO7A C>T	11	76867985	76867985	C	T	MYO7A	c.670C>T	NM_000260.4	NP_000251.3:p.(Arg224Trp)	NC_000011.9:g.76867985C>T	VUS	1 lab	ee1cf84aec
1:162560282 UAP1 C>T	1	162560282	162560282	C	T	UAP1	c.1339C>T	NM_001324116.5	NP_001311045.1:p.(Arg447Cys)	NC_000001.10:g.162560282C>T	VUS	1 lab	ee1e836a6b
10:119013618 SLC18A2 G>A	10	119013618	119013618	G	A	SLC18A2	c.583G>A	NM_003054.6	NP_003045.2:p.(Gly195Ser)	NC_000010.10:g.119013618G>A	VUS	1 lab	ee1eabad3c
19:41711990 CYP2S1 T>C	19	41711990	41711990	T	C	CYP2S1	c.1292T>C	NM_030622.8	NP_085125.1:p.(Leu431Pro)	NC_000019.9:g.41711990T>C	VUS	1 lab	ee2172f9e8
6:73331979 KCNQ5 G>C	6	73331979	73331979	G	C	KCNQ5	c.62G>C	NM_019842.4	NP_062816.2:p.(Gly21Ala)	NC_000006.11:g.73331979G>C	VUS	1 lab	ee219becd5
22:42607464 TCF20 C>T	22	42607464	42607464	C	T	TCF20	c.3848G>A	NM_001378418.1	NP_001365347.1:p.(Arg1283His)	NC_000022.10:g.42607464C>T	(Likely) benign	1 lab	ee234e5c27
8:65494020 BHLHE22 G>GGCAGCA	8	65494020	65494050	G	GGCAGCA	BHLHE22	c.698_703dup	NM_152414.5	NP_689627.1:p.(Ser233_Ser234dup)	NC_000008.10:g.65494045_65494050dup	(Likely) benign	1 lab	ee235c08b6
19:17887474 FCHO1 G>A	19	17887474	17887474	G	A	FCHO1	c.1238G>A	NM_015122.3	NP_055937.1:p.(Arg413Gln)	NC_000019.9:g.17887474G>A	(Likely) benign	1 lab	ee235d3f43
20:61453127 COL9A3 G>A	20	61453127	61453127	G	A	COL9A3	c.388G>A	NM_001853.4	NP_001844.3:p.(Gly130Ser)	NC_000020.10:g.61453127G>A	VUS	1 lab	ee23ad3e0a
15:89398819 ACAN A>C	15	89398819	89398819	A	C	ACAN	c.3003A>C	NM_001369268.1	NP_001356197.1:p.(Leu1001=)	NC_000015.9:g.89398819A>C	VUS	1 lab	ee248439a8
21:34925309 SON T>G	21	34925309	34925309	T	G	SON	c.3772T>G	NM_138927.4	NP_620305.3:p.(Ser1258Ala)	NC_000021.8:g.34925309T>G	VUS	1 lab	ee25225c6b
20:17610512 RRBP1 C>T	20	17610512	17610512	C	T	RRBP1	c.2705G>A	NM_001365613.2	NP_001352542.1:p.(Arg902Gln)	NC_000020.10:g.17610512C>T	(Likely) benign	1 lab	ee25628926
9:2083341 SMARCA2 C>T	9	2083341	2083341	C	T	SMARCA2	c.2349-6C>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2083341C>T	(Likely) benign	1 lab	ee270ab5bd
19:18974366 UPF1 G>A	19	18974366	18974366	G	A	UPF1	c.2720G>A	NM_002911.4	NP_002902.2:p.(Arg907His)	NC_000019.9:g.18974366G>A	(Likely) benign	1 lab	ee28a192ec
8:11615883 GATA4 T>A	8	11615883	11615883	T	A	GATA4	c.1231T>A	NM_001308093.3	NP_001295022.1:p.(Tyr411Asn)	NC_000008.10:g.11615883T>A	(Likely) benign	1 lab	ee29594e97
2:43520275 THADA C>A	2	43520275	43520275	C	A	THADA	c.4516G>T	NM_022065.5	NP_071348.3:p.(Ala1506Ser)	NC_000002.11:g.43520275C>A	VUS	1 lab	ee2cad832d
3:58095048 FLNB G>C	3	58095048	58095048	G	C	FLNB	c.2198G>C	NM_001457.4	NP_001448.2:p.(Arg733Thr)	NC_000003.11:g.58095048G>C	VUS	1 lab	ee2d8e06fb
21:47407395 COL6A1 C>T	21	47407395	47407395	C	T	COL6A1	c.739-18C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47407395C>T	(Likely) benign	1 lab	ee2f0c3421
6:158613090 GTF2H5 T>C	6	158613090	158613090	T	C	GTF2H5	c.117T>C	NM_207118.2	NP_997001.1:p.(Asp39=)	NC_000006.11:g.158613090T>C	(Likely) benign	1 lab	30ba764046
2:122122829 CLASP1 G>T	2	122122829	122122829	G	T	CLASP1	c.3981C>A	NM_001395891.1	NP_001382820.1:p.(Asp1327Glu)	NC_000002.11:g.122122829G>T	(Likely) benign	1 lab	ee2f7e3233
19:35530571 SCN1B A>T	19	35530571	35530571	A	T	SCN1B	c.623A>T	NM_001037.5	NP_001028.1:p.(Lys208Ile)	NC_000019.9:g.35530571A>T	VUS	1 lab	ee3059da78
1:147091792 BCL9 A>G	1	147091792	147091792	A	G	BCL9	c.1831A>G	NM_004326.4	NP_004317.2:p.(Ile611Val)	NC_000001.10:g.147091792A>G	VUS	1 lab	ee30cfcece
13:32972852 BRCA2 C>T	13	32972852	32972852	C	T	BRCA2	c.10202C>T	NM_000059.4	NP_000050.3:p.(Thr3401Met)	NC_000013.10:g.32972852C>T	(Likely) benign	1 lab	ee3191f8d1
2:69409751 ANTXR1 C>T	2	69409751	69409751	C	T	ANTXR1	c.1312C>T	NM_032208.3	NP_115584.1:p.(Arg438Cys)	NC_000002.11:g.69409751C>T	VUS	1 lab	ee31bf4952
5:132232767 AFF4 T>C	5	132232767	132232767	T	C	AFF4	c.1555A>G	NM_014423.4	NP_055238.1:p.(Ser519Gly)	NC_000005.9:g.132232767T>C	(Likely) benign	1 lab	ee33b2bc3f
4:107037512 TBCK AT>A	4	107037512	107037515	AT	A	TBCK	c.2258del	NM_001163435.3	NP_001156907.2:p.(Asn753MetfsTer3)	NC_000004.11:g.107037515del	(Likely) pathogenic	1 lab	ee34001916
6:97717858 MMS22L G>A	6	97717858	97717858	G	A	MMS22L	c.617C>T	NM_001350599.2	NP_001337528.1:p.(Pro206Leu)	NC_000006.11:g.97717858G>A	VUS	1 lab	ee36326585
5:7897027 MTRR T>G	5	7897027	7897027	T	G	MTRR	c.1727T>G	NM_002454.3	NP_002445.2:p.(Leu576Trp)	NC_000005.9:g.7897027T>G	VUS	1 lab	ee3708ebf3
1:154832170 KCNN3 C>G	1	154832170	154832170	C	G	KCNN3	c.933+9338G>C	NM_002249.6	NP_002240.3:p.?	NC_000001.10:g.154832170C>G	VUS	1 lab	ee374a1593
19:38983130 RYR1 G>A	19	38983130	38983130	G	A	RYR1	c.6128G>A	NM_000540.3	NP_000531.2:p.(Gly2043Glu)	NC_000019.9:g.38983130G>A	(Likely) benign	1 lab	ee374bd917
10:69961596 MYPN G>A	10	69961596	69961596	G	A	MYPN	c.3504G>A	NM_032578.4	NP_115967.2:p.(Val1168=)	NC_000010.10:g.69961596G>A	VUS	1 lab	ee3896ea76
8:97172709 GDF6 G>A	8	97172709	97172709	G	A	GDF6	c.212C>T	NM_001001557.4	NP_001001557.1:p.(Pro71Leu)	NC_000008.10:g.97172709G>A	(Likely) benign	1 lab	ee38aca9fa
9:140080740 ANAPC2 C>T	9	140080740	140080740	C	T	ANAPC2	c.809G>A	NM_013366.4	NP_037498.1:p.(Arg270Gln)	NC_000009.11:g.140080740C>T	(Likely) benign	1 lab	ee39238a2a
18:46798603 DYM A>G	18	46798603	46798603	A	G	DYM	c.1196T>C	NM_001353214.3	NP_001340143.1:p.(Ile399Thr)	NC_000018.9:g.46798603A>G	VUS	1 lab	ee39eb091d
X:53222019 KDM5C G>T	X	53222019	53222019	G	T	KDM5C	c.*130C>A	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53222019G>T	(Likely) benign	1 lab	ee3abbc591
1:27023908 ARID1A GGCTGCGGCGGCGGCA>G	1	27023908	27023937	GGCTGCGGCGGCGGCA	G	ARID1A	c.1029_1043del	NM_006015.6	NP_006006.3:p.(Ala345_Ala349del)	NC_000001.10:g.27023923_27023937del	VUS	1 lab	ee3cf15ab9
14:91773407 CCDC88C T>C	14	91773407	91773407	T	C	CCDC88C	c.3170A>G	NM_001080414.4	NP_001073883.2:p.(Asp1057Gly)	NC_000014.8:g.91773407T>C	VUS	1 lab	ee3d26db57
12:7177833 C1S G>A	12	7177833	7177833	G	A	C1S	c.1945G>A	NM_001734.5	NP_001725.1:p.(Ala649Thr)	NC_000012.11:g.7177833G>A	VUS	1 lab	ef5cb84503
6:117244397 RFX6 G>A	6	117244397	117244397	G	A	RFX6	c.1555+10G>A	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117244397G>A	(Likely) benign	1 lab	ee3d9d74b9
5:42718139 GHR T>G	5	42718139	42718139	T	G	GHR	c.876-15T>G	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42718139T>G	(Likely) benign	1 lab	ee3e31aa72
10:75602269 CAMK2G G>A	10	75602269	75602269	G	A	CAMK2G	c.850C>T	NM_001367534.1	NP_001354463.1:p.(Arg284Cys)	NC_000010.10:g.75602269G>A	VUS	1 lab	ee3f91a0d4
12:122750679 VPS33A GC>G	12	122750679	122750687	GC	G	VPS33A	c.102+174del	NM_022916.6	NP_075067.2:p.?	NC_000012.11:g.122750687del	(Likely) benign	1 lab	ee408aa5ce
X:50377797 SHROOM4 G>C	X	50377797	50377797	G	C	SHROOM4	c.1276C>G	NM_020717.5	NP_065768.2:p.(Leu426Val)	NC_000023.10:g.50377797G>C	VUS	1 lab	ee42ee33a8
1:155208006 GBA1 T>C	1	155208006	155208006	T	C	GBA1	c.680A>G	NM_000157.4	NP_000148.2:p.(Asn227Ser)	NC_000001.10:g.155208006T>C	(Likely) pathogenic	1 lab	ee43419d5c
X:129267402 AIFM1 A>G	X	129267402	129267402	A	G	AIFM1	c.1334T>C	NM_004208.4	NP_004199.1:p.(Ile445Thr)	NC_000023.10:g.129267402A>G	VUS	1 lab	ee43fa10e9
14:74756985 ABCD4 G>T	14	74756985	74756985	G	T	ABCD4	c.1327+9C>A	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74756985G>T	(Likely) benign	1 lab	ee4474e204
7:4153041 SDK1 C>A	7	4153041	4153041	C	A	SDK1	c.3555C>A	NM_152744.4	NP_689957.3:p.(Ala1185=)	NC_000007.13:g.4153041C>A	(Likely) benign	1 lab	ee46636400
14:33204913 AKAP6 C>T	14	33204913	33204913	C	T	AKAP6	c.3197C>T	NM_004274.5	NP_004265.3:p.(Ser1066Leu)	NC_000014.8:g.33204913C>T	(Likely) benign	1 lab	ee467283de
15:89390492 ACAN G>A	15	89390492	89390492	G	A	ACAN	c.1448G>A	NM_001369268.1	NP_001356197.1:p.(Arg483His)	NC_000015.9:g.89390492G>A	VUS	1 lab	ee471aa323
16:29824750 PRRT2 G>T	16	29824750	29824750	G	T	PRRT2	c.375G>T	NM_145239.3	NP_660282.2:p.(Arg125Ser)	NC_000016.9:g.29824750G>T	VUS	1 lab	ee476fa66b
1:120612040 NOTCH2 T>TCCTCCG	1	120612040	120612043	T	TCCTCCG	NOTCH2	c.-21_-20insCGGAGG	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612042_120612043insTCCGCC	VUS	1 lab	ee49b5e51b
10:61832656 ANK3 C>G	10	61832656	61832656	C	G	ANK3	c.7983G>C	NM_020987.5	NP_066267.2:p.(Lys2661Asn)	NC_000010.10:g.61832656C>G	(Likely) benign	1 lab	ee4a8e4d2d
9:139316327 PMPCA T>C	9	139316327	139316327	T	C	PMPCA	c.1307T>C	NM_015160.3	NP_055975.1:p.(Met436Thr)	NC_000009.11:g.139316327T>C	VUS	1 lab	ee4ac27403
19:17942542 JAK3 G>A	19	17942542	17942542	G	A	JAK3	c.2746C>T	NM_000215.4	NP_000206.2:p.(Arg916Trp)	NC_000019.9:g.17942542G>A	(Likely) benign	1 lab	ee4b6e68cc
3:38892052 SCN11A T>C	3	38892052	38892052	T	C	SCN11A	c.4247A>G	NM_001349253.2	NP_001336182.1:p.(Lys1416Arg)	NC_000003.11:g.38892052T>C	VUS	1 lab	ee4b8a9afe
11:64545816 SF1 C>CG	11	64545816	64545823	C	CG	SF1	c.31+17dup	NM_004630.4	NP_004621.2:p.?	NC_000011.9:g.64545823dup	VUS	1 lab	ee4c2c8be0
1:38227712 EPHA10 C>T	1	38227712	38227712	C	T	EPHA10	c.215G>A	NM_001099439.2	NP_001092909.1:p.(Arg72His)	NC_000001.10:g.38227712C>T	VUS	1 lab	ee4c59a830
19:15289862 NOTCH3 C>T	19	15289862	15289862	C	T	NOTCH3	c.3692G>A	NM_000435.3	NP_000426.2:p.(Arg1231His)	NC_000019.9:g.15289862C>T	(Likely) benign	1 lab	ee4c72f5d1
13:25671795 PABPC3 C>T	13	25671795	25671795	C	T	PABPC3	c.1459C>T	NM_030979.3	NP_112241.2:p.(Arg487Cys)	NC_000013.10:g.25671795C>T	VUS	1 lab	ee4c8a1a49
3:121154999 POLQ G>A	3	121154999	121154999	G	A	POLQ	c.7513C>T	NM_199420.4	NP_955452.3:p.(Arg2505Ter)	NC_000003.11:g.121154999G>A	(Likely) benign	1 lab	ee4cb2cfd8
2:166020125 SCN3A C>A	2	166020125	166020125	C	A	SCN3A	c.694+3G>T	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.166020125C>A	VUS	1 lab	ee4d2fd9cb
22:19196449 CLTCL1 T>C	22	19196449	19196449	T	C	CLTCL1	c.3425A>G	NM_007098.4	NP_009029.3:p.(Gln1142Arg)	NC_000022.10:g.19196449T>C	(Likely) benign	1 lab	ee4ed340cb
20:60884473 LAMA5 C>T	20	60884473	60884473	C	T	LAMA5	c.11007G>A	NM_005560.6	NP_005551.3:p.(Ala3669=)	NC_000020.10:g.60884473C>T	(Likely) benign	1 lab	ee4fe42772
1:50886896 DMRTA2 G>T	1	50886896	50886896	G	T	DMRTA2	c.313C>A	NM_032110.3	NP_115486.1:p.(Arg105Ser)	NC_000001.10:g.50886896G>T	VUS	1 lab	ee503def50
11:72145517 CLPB A>G	11	72145517	72145517	A	G	CLPB	c.2T>C	NM_001258392.3	NP_001245321.1:p.(Met1?)	NC_000011.9:g.72145517A>G	VUS	1 lab	ee5053f72d
1:27087357 ARID1A G>A	1	27087357	27087357	G	A	ARID1A	c.1931G>A	NM_006015.6	NP_006006.3:p.(Gly644Asp)	NC_000001.10:g.27087357G>A	VUS	1 lab	ee5074ebf0
7:1518117 INTS1 G>A	7	1518117	1518117	G	A	INTS1	c.4515C>T	NM_001080453.3	NP_001073922.2:p.(Ala1505=)	NC_000007.13:g.1518117G>A	(Likely) benign	1 lab	ee52f9dd65
3:43122355 POMGNT2 C>T	3	43122355	43122355	C	T	POMGNT2	c.569G>A	NM_032806.6	NP_116195.2:p.(Arg190Gln)	NC_000003.11:g.43122355C>T	VUS	1 lab	ee5417887f
18:57115250 CCBE1 C>G	18	57115250	57115250	C	G	CCBE1	c.740G>C	NM_133459.4	NP_597716.1:p.(Gly247Ala)	NC_000018.9:g.57115250C>G	VUS	1 lab	ee54c44dda
3:130148413 COL6A5 A>G	3	130148413	130148413	A	G	COL6A5	c.5237-4A>G	NM_001278298.2	NP_001265227.1:p.?	NC_000003.11:g.130148413A>G	(Likely) benign	1 lab	ee550599be
18:31324657 ASXL3 G>T	18	31324657	31324657	G	T	ASXL3	c.4845G>T	NM_030632.3	NP_085135.1:p.(Arg1615Ser)	NC_000018.9:g.31324657G>T	(Likely) benign	1 lab	ee5516871d
14:105415352 AHNAK2 G>T	14	105415352	105415352	G	T	AHNAK2	c.6436C>A	NM_138420.4	NP_612429.2:p.(Leu2146Met)	NC_000014.8:g.105415352G>T	VUS	1 lab	ee55ca11be
20:31021460 ASXL1 G>A	20	31021460	31021460	G	A	ASXL1	c.1459G>A	NM_015338.6	NP_056153.2:p.(Ala487Thr)	NC_000020.10:g.31021460G>A	(Likely) benign	1 lab	ee57d2decd
17:59763200 BRIP1 T>C	17	59763200	59763200	T	C	BRIP1	c.2902A>G	NM_032043.3	NP_114432.2:p.(Lys968Glu)	NC_000017.10:g.59763200T>C	VUS	1 lab	ee58fe72d1
14:79433549 NRXN3 A>T	14	79433549	79433549	A	T	NRXN3	c.2778-2A>T	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79433549A>T	(Likely) benign	1 lab	ee5cd8f288
5:140237644 PCDHA1 G>C	5	140237644	140237644	G	C	PCDHA1	c.2394+69375G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140237644G>C	(Likely) benign	1 lab	ee5d02797e
4:113352512 ALPK1 C>T	4	113352512	113352512	C	T	ALPK1	c.1809C>T	NM_025144.4	NP_079420.3:p.(Asp603=)	NC_000004.11:g.113352512C>T	(Likely) benign	1 lab	30bad86097
19:48807021 ODAD1 C>T	19	48807021	48807021	C	T	ODAD1	c.874G>A	NM_001364171.2	NP_001351100.1:p.(Val292Ile)	NC_000019.9:g.48807021C>T	(Likely) benign	1 lab	ee5fece348
11:44297059 ALX4 C>T	11	44297059	44297059	C	T	ALX4	c.616G>A	NM_021926.4	NP_068745.2:p.(Asp206Asn)	NC_000011.9:g.44297059C>T	VUS	1 lab	ee600ed473
19:54976341 CDC42EP5 G>T	19	54976341	54976341	G	T	CDC42EP5	c.391C>A	NM_145057.4	NP_659494.2:p.(Gln131Lys)	NC_000019.9:g.54976341G>T	(Likely) benign	1 lab	ee60ee5f71
11:125853995 CDON G>GA	11	125853995	125853998	G	GA	CDON	c.2774-8dup	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125853998dup	VUS	1 lab	ee60f9a0cd
10:95557740 LGI1 G>A	10	95557740	95557740	G	A	LGI1	c.*180G>A	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95557740G>A	(Likely) benign	1 lab	30bba31d47
5:36986292 NIPBL G>A	5	36986292	36986292	G	A	NIPBL	c.3010G>A	NM_133433.4	NP_597677.2:p.(Val1004Met)	NC_000005.9:g.36986292G>A	VUS	1 lab	ee621cf03a
15:89383340 ACAN G>A	15	89383340	89383340	G	A	ACAN	c.552G>A	NM_001369268.1	NP_001356197.1:p.(Thr184=)	NC_000015.9:g.89383340G>A	(Likely) benign	1 lab	ee623de212
11:552559 LRRC56 C>T	11	552559	552559	C	T	LRRC56	c.1182-10C>T	NM_198075.4	NP_932341.1:p.?	NC_000011.9:g.552559C>T	(Likely) benign	1 lab	ee637264e9
11:4107827 STIM1 G>A	11	4107827	4107827	G	A	STIM1	c.1634+54G>A	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4107827G>A	(Likely) benign	1 lab	ee645bd5fd
22:28193948 MN1 G>A	22	28193948	28193948	G	A	MN1	c.2584C>T	NM_002430.3	NP_002421.3:p.(Gln862Ter)	NC_000022.10:g.28193948G>A	(Likely) pathogenic	1 lab	ee66395e9f
16:70517820 COG4 G>A	16	70517820	70517820	G	A	COG4	c.1763C>T	NM_015386.3	NP_056201.2:p.(Ala588Val)	NC_000016.9:g.70517820G>A	(Likely) benign	1 lab	ee66ae4d8e
7:42063079 GLI3 C>T	7	42063079	42063079	C	T	GLI3	c.1485G>A	NM_000168.6	NP_000159.3:p.(Glu495=)	NC_000007.13:g.42063079C>T	(Likely) benign	1 lab	ee68d74f5d
14:39565283 SEC23A G>A	14	39565283	39565283	G	A	SEC23A	c.40C>T	NM_006364.4	NP_006355.2:p.(Arg14Ter)	NC_000014.8:g.39565283G>A	VUS	1 lab	ee69717122
7:48313998 ABCA13 A>G	7	48313998	48313998	A	G	ABCA13	c.4735A>G	NM_152701.5	NP_689914.3:p.(Asn1579Asp)	NC_000007.13:g.48313998A>G	(Likely) benign	1 lab	ee6a367219
11:644590 DEAF1 A>C	11	644590	644590	A	C	DEAF1	c.1658T>G	NM_021008.4	NP_066288.2:p.(Val553Gly)	NC_000011.9:g.644590A>C	VUS	1 lab	ee6a3949af
1:170705284 PRRX1 A>G	1	170705284	170705284	A	G	PRRX1	c.695A>G	NM_022716.4	NP_073207.1:p.(Lys232Arg)	NC_000001.10:g.170705284A>G	VUS	1 lab	ee6b2c421e
9:135863848 GFI1B G>T	9	135863848	135863848	G	T	GFI1B	c.503G>T	NM_001377304.1	NP_001364233.1:p.(Cys168Phe)	NC_000009.11:g.135863848G>T	(Likely) benign	1 lab	ee6b400bb8
X:150912415 CNGA2 C>A	X	150912415	150912415	C	A	CNGA2	c.1440C>A	NM_005140.3	NP_005131.1:p.(Tyr480Ter)	NC_000023.10:g.150912415C>A	(Likely) pathogenic	1 lab	ee6cf439b0
20:6759086 BMP2 A>G	20	6759086	6759086	A	G	BMP2	c.541A>G	NM_001200.4	NP_001191.1:p.(Thr181Ala)	NC_000020.10:g.6759086A>G	VUS	1 lab	ee6f8bc571
X:147026499 FMR1 A>G	X	147026499	147026499	A	G	FMR1	c.1582A>G	NM_002024.6	NP_002015.1:p.(Arg528Gly)	NC_000023.10:g.147026499A>G	(Likely) benign	1 lab	ee6f91db95
6:157527280 ARID1B T>TCTCCTC	6	157527280	157527295	T	TCTCCTC	ARID1B	c.5395-11_5395-6dup	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157527290_157527295dup	VUS	1 lab	ee6fb0ab2a
19:10790551 ILF3 C>T	19	10790551	10790551	C	T	ILF3	c.807C>T	NM_017620.3	NP_060090.2:p.(Gly269=)	NC_000019.9:g.10790551C>T	VUS	1 lab	ee6fd628d7
19:56466211 NLRP8 A>C	19	56466211	56466211	A	C	NLRP8	c.787A>C	NM_176811.2	NP_789781.2:p.(Lys263Gln)	NC_000019.9:g.56466211A>C	(Likely) benign	1 lab	ee719e75e9
17:78321862 RNF213 A>G	17	78321862	78321862	A	G	RNF213	c.9727A>G	NM_001256071.3	NP_001243000.2:p.(Thr3243Ala)	NC_000017.10:g.78321862A>G	(Likely) benign	1 lab	ee72967a03
X:48321332 SLC38A5 G>T	X	48321332	48321332	G	T	SLC38A5	c.525C>A	NM_033518.4	NP_277053.2:p.(Ile175=)	NC_000023.10:g.48321332G>T	VUS	1 lab	ee7336cf7e
16:57238814 RSPRY1 C>T	16	57238814	57238814	C	T	RSPRY1	c.244C>T	NM_133368.3	NP_588609.1:p.(Arg82Trp)	NC_000016.9:g.57238814C>T	VUS	1 lab	ee737598c4
11:64519936 PYGM C>T	11	64519936	64519936	C	T	PYGM	c.1559G>A	NM_005609.4	NP_005600.1:p.(Arg520His)	NC_000011.9:g.64519936C>T	VUS	1 lab	ee74571e20
3:71096190 FOXP1 C>A	3	71096190	71096190	C	A	FOXP1	c.567G>T	NM_001349338.3	NP_001336267.1:p.(Gln189His)	NC_000003.11:g.71096190C>A	VUS	1 lab	ee7633869a
X:19431519 MAP3K15 C>T	X	19431519	19431519	C	T	MAP3K15	c.1654G>A	NM_001001671.4	NP_001001671.3:p.(Glu552Lys)	NC_000023.10:g.19431519C>T	VUS	1 lab	ee76bd5684
13:77786256 MYCBP2 A>G	13	77786256	77786256	A	G	MYCBP2	c.3097T>C	NM_015057.5	NP_055872.4:p.(Trp1033Arg)	NC_000013.10:g.77786256A>G	VUS	1 lab	ee77632bd7
16:2153388 PKD1 G>GGAGTTGGCA	16	2153388	2153392	G	GGAGTTGGCA	PKD1	c.8669_8670insTGCCAACTC	NM_001009944.3	NP_001009944.3:p.(Ala2894_Ser2896dup)	NC_000016.9:g.2153391_2153392insTTGGCAGAG	(Likely) benign	1 lab	ee79ad086a
12:46298745 ARID2 T>A	12	46298745	46298745	T	A	ARID2	c.5392T>A	NM_152641.4	NP_689854.2:p.(Ser1798Thr)	NC_000012.11:g.46298745T>A	VUS	1 lab	ee7a57937c
1:3647496 TP73 G>A	1	3647496	3647496	G	A	TP73	c.1351G>A	NM_005427.4	NP_005418.1:p.(Gly451Arg)	NC_000001.10:g.3647496G>A	VUS	1 lab	ee7b29d34a
2:176957833 HOXD13 C>T	2	176957833	176957833	C	T	HOXD13	c.215C>T	NM_000523.4	NP_000514.2:p.(Ser72Phe)	NC_000002.11:g.176957833C>T	VUS	1 lab	ee7fcc589e
5:38512038 LIFR T>C	5	38512038	38512038	T	C	LIFR	c.590A>G	NM_001127671.2	NP_001121143.1:p.(Lys197Arg)	NC_000005.9:g.38512038T>C	VUS	1 lab	ee8143a5a2
X:75649456 MAGEE1 C>T	X	75649456	75649456	C	T	MAGEE1	c.1133C>T	NM_020932.3	NP_065983.1:p.(Thr378Ile)	NC_000023.10:g.75649456C>T	(Likely) benign	1 lab	ee81645864
16:86601524 FOXC2 C>G	16	86601524	86601524	C	G	FOXC2	c.583C>G	NM_005251.3	NP_005242.1:p.(Pro195Ala)	NC_000016.9:g.86601524C>G	(Likely) benign	1 lab	ee835346c8
1:153660679 NPR1 C>T	1	153660679	153660679	C	T	NPR1	c.2399C>T	NM_000906.4	NP_000897.3:p.(Thr800Met)	NC_000001.10:g.153660679C>T	(Likely) benign	1 lab	ee83a2112f
12:116452969 MED13L T>C	12	116452969	116452969	T	C	MED13L	c.1120A>G	NM_015335.5	NP_056150.1:p.(Asn374Asp)	NC_000012.11:g.116452969T>C	(Likely) benign	1 lab	ee8d9173c5
X:31341731 DMD C>T	X	31341731	31341731	C	T	DMD	c.9208G>A	NM_004006.3	NP_003997.2:p.(Val3070Met)	NC_000023.10:g.31341731C>T	VUS	1 lab	2dd2008048
19:18900056 COMP C>G	19	18900056	18900056	C	G	COMP	c.441G>C	NM_000095.3	NP_000086.2:p.(Pro147=)	NC_000019.9:g.18900056C>G	(Likely) benign	1 lab	ee844d754e
17:80588875 WDR45B G>C	17	80588875	80588875	G	C	WDR45B	c.166C>G	NM_019613.4	NP_062559.2:p.(His56Asp)	NC_000017.10:g.80588875G>C	VUS	1 lab	ee85d73671
17:60140543 MED13 C>CTTA	17	60140543	60140546	C	CTTA	MED13	c.183_185dup	NM_005121.3	NP_005112.2:p.(Leu61_Lys62insAsn)	NC_000017.10:g.60140544_60140546dup	VUS	1 lab	ee86d4edb5
16:2218143 TRAF7 T>C	16	2218143	2218143	T	C	TRAF7	c.205T>C	NM_032271.3	NP_115647.2:p.(Ser69Pro)	NC_000016.9:g.2218143T>C	(Likely) benign	1 lab	ee871bf5fd
3:123695793 ROPN1 G>A	3	123695793	123695793	G	A	ROPN1	c.152C>T	NM_001317774.2	NP_001304703.1:p.(Pro51Leu)	NC_000003.11:g.123695793G>A	VUS	1 lab	ee87282d09
5:74921503 ANKDD1B G>C	5	74921503	74921503	G	C	ANKDD1B	c.428G>C	NM_001276713.2	NP_001263642.1:p.(Trp143Ser)	NC_000005.9:g.74921503G>C	VUS	1 lab	ee89fc759a
2:179596292 TTN T>C	2	179596292	179596292	T	C	TTN	c.17201A>G	NM_001267550.2	NP_001254479.2:p.(Lys5734Arg)	NC_000002.11:g.179596292T>C	VUS	1 lab	ee8abee678
3:130300740 COL6A6 C>T	3	130300740	130300740	C	T	COL6A6	c.3883C>T	NM_001102608.3	NP_001096078.1:p.(Arg1295Ter)	NC_000003.11:g.130300740C>T	VUS	1 lab	ee8adfc038
2:166032639 SCN3A A>C	2	166032639	166032639	A	C	SCN3A	c.264+2T>G	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.166032639A>C	VUS	1 lab	ee8c6f1fcf
12:121431507 HNF1A T>C	12	121431507	121431507	T	C	HNF1A	c.711T>C	NM_000545.8	NP_000536.6:p.(Asn237=)	NC_000012.11:g.121431507T>C	VUS	1 lab	ee8cb5fcdf
17:45367092 ITGB3 A>G	17	45367092	45367092	A	G	ITGB3	c.985A>G	NM_000212.3	NP_000203.2:p.(Asn329Asp)	NC_000017.10:g.45367092A>G	VUS	1 lab	ee8d4c8fb9
7:150761781 SLC4A2 A>T	7	150761781	150761781	A	T	SLC4A2	c.386A>T	NM_003040.4	NP_003031.3:p.(Asp129Val)	NC_000007.13:g.150761781A>T	VUS	1 lab	ee8e3d3cdf
8:17915190 ASAH1 T>C	8	17915190	17915190	T	C	ASAH1	c.1147-58A>G	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17915190T>C	(Likely) benign	1 lab	30c102bfaa
X:57936085 ZXDA A>G	X	57936085	57936085	A	G	ZXDA	c.770T>C	NM_007156.5	NP_009087.1:p.(Leu257Pro)	NC_000023.10:g.57936085A>G	(Likely) benign	1 lab	ee8f029ace
6:163899807 QKI C>T	6	163899807	163899807	C	T	QKI	c.286-5C>T	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163899807C>T	(Likely) benign	1 lab	ee903a3500
1:7798033 CAMTA1 C>T	1	7798033	7798033	C	T	CAMTA1	c.3673C>T	NM_015215.4	NP_056030.1:p.(Arg1225Cys)	NC_000001.10:g.7798033C>T	VUS	1 lab	ee9049033e
1:62970369 DOCK7 C>T	1	62970369	62970369	C	T	DOCK7	c.4696G>A	NM_001367561.1	NP_001354490.1:p.(Gly1566Ser)	NC_000001.10:g.62970369C>T	VUS	1 lab	ee90ccbf52
7:127894679 LEP A>G	7	127894679	127894679	A	G	LEP	c.367A>G	NM_000230.3	NP_000221.1:p.(Ser123Gly)	NC_000007.13:g.127894679A>G	VUS	1 lab	2dd529050b
12:121432065 HNF1A G>A	12	121432065	121432065	G	A	HNF1A	c.812G>A	NM_000545.8	NP_000536.6:p.(Arg271Gln)	NC_000012.11:g.121432065G>A	(Likely) pathogenic	1 lab	ee939d4252
21:47420568 COL6A1 A>G	21	47420568	47420568	A	G	COL6A1	c.1814-105A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47420568A>G	(Likely) benign	1 lab	ee93c158b4
6:15343441 JARID2 CAAGAACG>C	6	15343441	15343450	CAAGAACG	C	JARID2	c.46-30904_46-30898del	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15343444_15343450del	VUS	1 lab	ee93cebda6
3:136237679 STAG1 A>C	3	136237679	136237679	A	C	STAG1	c.676+2376T>G	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136237679A>C	(Likely) benign	1 lab	ee94766f52
17:4457215 MYBBP1A G>C	17	4457215	4457215	G	C	MYBBP1A	c.454-3C>G	NM_014520.4	NP_055335.2:p.?	NC_000017.10:g.4457215G>C	VUS	1 lab	ee969eef57
11:134127148 ACAD8 A>AGCAC	11	134127148	134127149	A	AGCAC	ACAD8	c.377_378insGCAC	NM_014384.3	NP_055199.1:p.(His126GlnfsTer10)	NC_000011.9:g.134127148_134127149insGCAC	VUS	1 lab	ee987b85e4
22:22868499 ZNF280A A>G	22	22868499	22868499	A	G	ZNF280A	c.1456T>C	NM_080740.5	NP_542778.2:p.(Leu486=)	NC_000022.10:g.22868499A>G	VUS	1 lab	ee98d4ca5b
15:42985913 STARD9 G>C	15	42985913	42985913	G	C	STARD9	c.12137G>C	NM_020759.3	NP_065810.2:p.(Gly4046Ala)	NC_000015.9:g.42985913G>C	(Likely) benign	1 lab	ee99c28567
8:101719033 PABPC1 GCTAAAAAATAAGAACATTTTGTATTTTTATCTTGCTCTTTCAAATTGGTGATCAATTTTTAAAGGAAGGATTAAGACTCAC>G	8	101719033	101719115	GCTAAAAAATAAGAACATTTTGTATTTTTATCTTGCTCTTTCAAATTGGTGATCAATTTTTAAAGGAAGGATTAAGACTCAC	G	PABPC1	c.1447+1_1448-1del	NM_002568.4	NP_002559.2:p.?	NC_000008.10:g.101719035_101719115del	(Likely) benign	1 lab	ee9a562abb
X:127186017 ACTRT1 C>T	X	127186017	127186017	C	T	ACTRT1	c.169G>A	NM_138289.4	NP_612146.1:p.(Val57Met)	NC_000023.10:g.127186017C>T	VUS	1 lab	ee9a729687
12:49430925 KMT2D C>G	12	49430925	49430925	C	G	KMT2D	c.10214G>C	NM_003482.4	NP_003473.3:p.(Ser3405Thr)	NC_000012.11:g.49430925C>G	VUS	1 lab	ee9af2cb8c
2:230668887 TRIP12 G>C	2	230668887	230668887	G	C	TRIP12	c.2707C>G	NM_001348323.3	NP_001335252.1:p.(Pro903Ala)	NC_000002.11:g.230668887G>C	VUS	1 lab	ee9c05b8e2
17:5074001 USP6 CG>C	17	5074001	5074008	CG	C	USP6	c.3752del	NM_001304284.2	NP_001291213.1:p.(Gly1251AlafsTer14)	NC_000017.10:g.5074008del	VUS	1 lab	ee9d49cc37
16:58588710 CNOT1 C>T	16	58588710	58588710	C	T	CNOT1	c.2891+445G>A	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58588710C>T	(Likely) benign	1 lab	ee9fbde6f2
21:38338742 HLCS A>C	21	38338742	38338742	A	C	HLCS	c.195+2T>G	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38338742A>C	(Likely) benign	1 lab	eea02b7b14
17:40717487 COASY A>G	17	40717487	40717487	A	G	COASY	c.1388-2A>G	NM_025233.7	NP_079509.5:p.?	NC_000017.10:g.40717487A>G	(Likely) pathogenic	1 lab	eea19ad588
17:29533326 NF1 T>C	17	29533326	29533326	T	C	NF1	c.1329T>C	NM_001042492.3	NP_001035957.1:p.(Phe443=)	NC_000017.10:g.29533326T>C	(Likely) benign	1 lab	eea2e114e2
13:77532094 ACOD1 A>T	13	77532094	77532094	A	T	ACOD1	c.1420A>T	NM_001258406.2	NP_001245335.1:p.(Asn474Tyr)	NC_000013.10:g.77532094A>T	(Likely) benign	1 lab	eea3ea935a
11:64900959 SYVN1 C>G	11	64900959	64900959	C	G	SYVN1	c.114G>C	NM_172230.3	NP_757385.1:p.(Lys38Asn)	NC_000011.9:g.64900959C>G	VUS	1 lab	ef5e3aac84
7:142564370 EPHB6 A>G	7	142564370	142564370	A	G	EPHB6	c.1587+10A>G	NM_004445.6	NP_004436.4:p.?	NC_000007.13:g.142564370A>G	(Likely) benign	1 lab	eea4364ca4
5:56178299 MAP3K1 G>A	5	56178299	56178299	G	A	MAP3K1	c.3272G>A	NM_005921.2	NP_005912.1:p.(Cys1091Tyr)	NC_000005.9:g.56178299G>A	(Likely) benign	1 lab	eea78d4226
2:7023575 RSAD2 G>A	2	7023575	7023575	G	A	RSAD2	c.420G>A	NM_080657.5	NP_542388.2:p.(Val140=)	NC_000002.11:g.7023575G>A	(Likely) benign	1 lab	eea8f5fe72
11:46900469 LRP4 G>C	11	46900469	46900469	G	C	LRP4	c.3125C>G	NM_002334.4	NP_002325.2:p.(Thr1042Ser)	NC_000011.9:g.46900469G>C	VUS	1 lab	eea925d4f3
9:35811592 SPAG8 A>G	9	35811592	35811592	A	G	SPAG8	c.451T>C	NM_001039592.2	NP_001034681.1:p.(Ser151Pro)	NC_000009.11:g.35811592A>G	(Likely) benign	1 lab	eeaaa575d4
17:67515569 MAP2K6 G>A	17	67515569	67515569	G	A	MAP2K6	c.362G>A	NM_002758.4	NP_002749.2:p.(Arg121Gln)	NC_000017.10:g.67515569G>A	VUS	1 lab	eeaaa5b652
17:40091946 ODAD4 G>A	17	40091946	40091946	G	A	ODAD4	c.341G>A	NM_031421.5	NP_113609.1:p.(Arg114Gln)	NC_000017.10:g.40091946G>A	VUS	1 lab	eeaccc1ce4
X:85769377 DACH2 G>A	X	85769377	85769377	G	A	DACH2	c.623G>A	NM_053281.3	NP_444511.1:p.(Gly208Glu)	NC_000023.10:g.85769377G>A	VUS	1 lab	eead4c748d
2:152727053 CACNB4 C>T	2	152727053	152727053	C	T	CACNB4	c.691G>A	NM_000726.5	NP_000717.2:p.(Gly231Ser)	NC_000002.11:g.152727053C>T	VUS	1 lab	eeae1a6337
1:200561238 KIF14 T>G	1	200561238	200561238	T	G	KIF14	c.2783A>C	NM_014875.3	NP_055690.1:p.(Lys928Thr)	NC_000001.10:g.200561238T>G	VUS	1 lab	eeae3dcd0c
7:98545891 TRRAP G>A	7	98545891	98545891	G	A	TRRAP	c.4596G>A	NM_001375524.1	NP_001362453.1:p.(Pro1532=)	NC_000007.13:g.98545891G>A	(Likely) benign	1 lab	eeaf486c91
5:177421114 PROP1 C>T	5	177421114	177421114	C	T	PROP1	c.335G>A	NM_006261.5	NP_006252.4:p.(Arg112Gln)	NC_000005.9:g.177421114C>T	VUS	1 lab	eeafbd9ffc
18:60562383 PHLPP1 A>G	18	60562383	60562383	A	G	PHLPP1	c.2206A>G	NM_194449.4	NP_919431.2:p.(Met736Val)	NC_000018.9:g.60562383A>G	(Likely) benign	1 lab	eeb10b1b71
7:155596078 SHH C>T	7	155596078	155596078	C	T	SHH	c.905G>A	NM_000193.4	NP_000184.1:p.(Arg302Gln)	NC_000007.13:g.155596078C>T	VUS	1 lab	eeb13a62be
15:38591568 SPRED1 T>C	15	38591568	38591568	T	C	SPRED1	c.33-6T>C	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38591568T>C	(Likely) benign	1 lab	eeb219a4f5
8:59514008 NSMAF C>T	8	59514008	59514008	C	T	NSMAF	c.1212G>A	NM_003580.4	NP_003571.2:p.(Arg404=)	NC_000008.10:g.59514008C>T	(Likely) benign	1 lab	eeb39d97b8
3:9787262 BRPF1 C>T	3	9787262	9787262	C	T	BRPF1	c.3074C>T	NM_001003694.2	NP_001003694.1:p.(Thr1025Met)	NC_000003.11:g.9787262C>T	VUS	1 lab	eeb4151803
15:52632535 MYO5A G>A	15	52632535	52632535	G	A	MYO5A	c.4097C>T	NM_001382347.1	NP_001369276.1:p.(Ala1366Val)	NC_000015.9:g.52632535G>A	VUS	1 lab	eeb4e0e15c
15:23890020 MAGEL2 C>A	15	23890020	23890020	C	A	MAGEL2	c.2870G>T	NM_019066.5	NP_061939.3:p.(Gly957Val)	NC_000015.9:g.23890020C>A	(Likely) benign	1 lab	eeb5bba44e
14:33299093 AKAP6 G>A	14	33299093	33299093	G	A	AKAP6	c.*82G>A	NM_004274.5	NP_004265.3:p.?	NC_000014.8:g.33299093G>A	(Likely) benign	1 lab	eeb668d9b4
X:79932417 BRWD3 A>G	X	79932417	79932417	A	G	BRWD3	c.5100T>C	NM_153252.5	NP_694984.5:p.(Gly1700=)	NC_000023.10:g.79932417A>G	(Likely) benign	1 lab	eeb916b50d
2:27704000 IFT172 T>C	2	27704000	27704000	T	C	IFT172	c.698A>G	NM_015662.3	NP_056477.1:p.(Asp233Gly)	NC_000002.11:g.27704000T>C	VUS	1 lab	eeb9cf1b43
8:56986252 RPS20 A>G	8	56986252	56986252	A	G	RPS20	c.177+2T>C	NM_001023.4	NP_001014.1:p.?	NC_000008.10:g.56986252A>G	(Likely) pathogenic	1 lab	eebb3ee0a7
8:145736215 SLC33A2 G>A	8	145736215	145736215	G	A	SLC33A2	c.994G>A	NM_138431.3	NP_612440.1:p.(Gly332Arg)	NC_000008.10:g.145736215G>A	(Likely) benign	1 lab	eebb451267
15:99491832 IGF1R C>G	15	99491832	99491832	C	G	IGF1R	c.3617C>G	NM_000875.5	NP_000866.1:p.(Ala1206Gly)	NC_000015.9:g.99491832C>G	VUS	1 lab	eebbaa1db6
X:49142309 PPP1R3F C>T	X	49142309	49142309	C	T	PPP1R3F	c.1157C>T	NM_033215.5	NP_149992.3:p.(Pro386Leu)	NC_000023.10:g.49142309C>T	(Likely) benign	1 lab	eebc385db9
13:32972329 BRCA2 CA>C	13	32972329	32972332	CA	C	BRCA2	c.9682del	NM_000059.4	NP_000050.3:p.(Ser3228ValfsTer21)	NC_000013.10:g.32972332del	(Likely) pathogenic	1 lab	eebc9359a1
15:99442760 IGF1R G>T	15	99442760	99442760	G	T	IGF1R	c.1157G>T	NM_000875.5	NP_000866.1:p.(Gly386Val)	NC_000015.9:g.99442760G>T	VUS	1 lab	eebdc5a3f0
14:105613683 JAG2 G>A	14	105613683	105613683	G	A	JAG2	c.2459C>T	NM_002226.5	NP_002217.3:p.(Ala820Val)	NC_000014.8:g.105613683G>A	VUS	1 lab	eebe990a5b
6:132196991 ENPP1 A>G	6	132196991	132196991	A	G	ENPP1	c.1711A>G	NM_006208.3	NP_006199.2:p.(Asn571Asp)	NC_000006.11:g.132196991A>G	VUS	1 lab	eebea4ed0f
18:42531886 SETBP1 A>G	18	42531886	42531886	A	G	SETBP1	c.2581A>G	NM_015559.3	NP_056374.2:p.(Ser861Gly)	NC_000018.9:g.42531886A>G	VUS	1 lab	eebeb3126a
2:170068652 LRP2 C>T	2	170068652	170068652	C	T	LRP2	c.6106G>A	NM_004525.3	NP_004516.2:p.(Val2036Ile)	NC_000002.11:g.170068652C>T	VUS	1 lab	eebeb344e0
12:121882025 KDM2B C>G	12	121882025	121882025	C	G	KDM2B	c.2241G>C	NM_032590.5	NP_115979.3:p.(Leu747=)	NC_000012.11:g.121882025C>G	(Likely) benign	1 lab	eebf42edaa
19:5693616 LONP1 C>T	19	5693616	5693616	C	T	LONP1	c.2485G>A	NM_004793.4	NP_004784.2:p.(Ala829Thr)	NC_000019.9:g.5693616C>T	(Likely) benign	1 lab	eec00ab49e
14:51190240 NIN T>G	14	51190240	51190240	T	G	NIN	c.6343A>C	NM_020921.4	NP_065972.4:p.(Asn2115His)	NC_000014.8:g.51190240T>G	(Likely) benign	1 lab	eec0878e1c
X:51361398 CENPVL3 A>G	X	51361398	51361398	A	G	CENPVL3	c.328T>C	NM_001355276.2	NP_001342205.2:p.(Trp110Arg)	NC_000023.10:g.51361398A>G	VUS	1 lab	eec0cf86ce
4:123255545 BLTP1 C>T	4	123255545	123255545	C	T	BLTP1	c.11957C>T	NM_001384125.1	NP_001371054.1:p.(Ser3986Phe)	NC_000004.11:g.123255545C>T	(Likely) pathogenic	1 lab	eec10a8eff
8:38274872 FGFR1 C>G	8	38274872	38274872	C	G	FGFR1	c.1615G>C	NM_023110.3	NP_075598.2:p.(Gly539Arg)	NC_000008.10:g.38274872C>G	VUS	1 lab	eec1b824af
16:86601209 FOXC2 GAGA>G	16	86601209	86601218	GAGA	G	FOXC2	c.275_277del	NM_005251.3	NP_005242.1:p.(Lys92del)	NC_000016.9:g.86601216_86601218del	VUS	1 lab	eec2e2090a
16:58621715 CNOT1 T>C	16	58621715	58621715	T	C	CNOT1	c.278A>G	NM_016284.5	NP_057368.3:p.(Tyr93Cys)	NC_000016.9:g.58621715T>C	VUS	1 lab	eec2e41fe2
8:144998568 PLEC G>A	8	144998568	144998568	G	A	PLEC	c.5529C>T	NM_201384.3	NP_958786.1:p.(Gly1843=)	NC_000008.10:g.144998568G>A	(Likely) benign	1 lab	eec3278116
3:112253090 ATG3 C>A	3	112253090	112253090	C	A	ATG3	c.863+26G>T	NM_022488.5	NP_071933.2:p.?	NC_000003.11:g.112253090C>A	(Likely) benign	1 lab	eec335fbd4
6:7562982 DSP G>T	6	7562982	7562982	G	T	DSP	c.695G>T	NM_004415.4	NP_004406.2:p.(Arg232Leu)	NC_000006.11:g.7562982G>T	VUS	1 lab	eec4c49790
9:133945191 LAMC3 C>T	9	133945191	133945191	C	T	LAMC3	c.3023C>T	NM_006059.4	NP_006050.3:p.(Thr1008Ile)	NC_000009.11:g.133945191C>T	(Likely) benign	1 lab	eec51ea180
8:105010483 RIMS2 A>G	8	105010483	105010483	A	G	RIMS2	c.3269+8834A>G	NM_001348484.3	NP_001335413.1:p.?	NC_000008.10:g.105010483A>G	VUS	1 lab	eec5feedaf
1:223943295 CAPN2 C>T	1	223943295	223943295	C	T	CAPN2	c.1249C>T	NM_001748.5	NP_001739.3:p.(Arg417Trp)	NC_000001.10:g.223943295C>T	VUS	1 lab	30c6f3818f
3:184064446 CLCN2 T>A	3	184064446	184064446	T	A	CLCN2	c.2645A>T	NM_004366.6	NP_004357.3:p.(His882Leu)	NC_000003.11:g.184064446T>A	(Likely) benign	1 lab	eec96ffa4b
14:67779369 PALS1 G>A	14	67779369	67779369	G	A	PALS1	c.1167G>A	NM_022474.4	NP_071919.2:p.(Trp389Ter)	NC_000014.8:g.67779369G>A	VUS	1 lab	2ddc48f156
6:33144766 COL11A2 C>T	6	33144766	33144766	C	T	COL11A2	c.2070+3G>A	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33144766C>T	(Likely) benign	1 lab	eeca5ee65a
19:17758082 UNC13A C>A	19	17758082	17758082	C	A	UNC13A	c.2036G>T	NM_001080421.3	NP_001073890.2:p.(Ser679Ile)	NC_000019.9:g.17758082C>A	VUS	1 lab	eecac8aa00
17:19584877 SLC47A2 G>A	17	19584877	19584877	G	A	SLC47A2	c.1271C>T	NM_001099646.3	NP_001093116.1:p.(Thr424Ile)	NC_000017.10:g.19584877G>A	VUS	1 lab	eecbc7af0b
3:178957855 PIK3CA G>C	3	178957855	178957855	G	C	PIK3CA	c.*5703G>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178957855G>C	VUS	1 lab	eecc173241
2:202626370 ALS2 C>T	2	202626370	202626370	C	T	ALS2	c.347G>A	NM_020919.4	NP_065970.2:p.(Gly116Glu)	NC_000002.11:g.202626370C>T	(Likely) pathogenic	1 lab	eeccab580c
12:116534531 MED13L C>T	12	116534531	116534531	C	T	MED13L	c.422G>A	NM_015335.5	NP_056150.1:p.(Arg141Lys)	NC_000012.11:g.116534531C>T	VUS	1 lab	eecd130255
15:73002093 BBS4 T>G	15	73002093	73002093	T	G	BBS4	c.129T>G	NM_033028.5	NP_149017.2:p.(Tyr43Ter)	NC_000015.9:g.73002093T>G	(Likely) pathogenic	1 lab	eecd437dde
2:26951330 KCNK3 G>A	2	26951330	26951330	G	A	KCNK3	c.1079G>A	NM_002246.3	NP_002237.1:p.(Arg360His)	NC_000002.11:g.26951330G>A	VUS	1 lab	eecdf490b7
1:27099921 ARID1A G>T	1	27099921	27099921	G	T	ARID1A	c.3800G>T	NM_006015.6	NP_006006.3:p.(Gly1267Val)	NC_000001.10:g.27099921G>T	VUS	1 lab	eece17669e
13:25483934 CPAP G>T	13	25483934	25483934	G	T	CPAP	c.859C>A	NM_018451.5	NP_060921.3:p.(Pro287Thr)	NC_000013.10:g.25483934G>T	VUS	1 lab	eecea18277
X:57936623 ZXDA G>T	X	57936623	57936623	G	T	ZXDA	c.232C>A	NM_007156.5	NP_009087.1:p.(Pro78Thr)	NC_000023.10:g.57936623G>T	(Likely) benign	1 lab	eececc0935
2:179427638 TTN T>C	2	179427638	179427638	T	C	TTN	c.83221A>G	NM_001267550.2	NP_001254479.2:p.(Ser27741Gly)	NC_000002.11:g.179427638T>C	VUS	1 lab	eecef36281
12:56622839 NABP2 G>A	12	56622839	56622839	G	A	NABP2	c.478G>A	NM_024068.4	NP_076973.1:p.(Gly160Ser)	NC_000012.11:g.56622839G>A	VUS	1 lab	eecf91b5dc
8:144994190 PLEC G>A	8	144994190	144994190	G	A	PLEC	c.9799C>T	NM_201384.3	NP_958786.1:p.(Arg3267Trp)	NC_000008.10:g.144994190G>A	VUS	1 lab	eecff20e57
1:103352560 COL11A1 G>A	1	103352560	103352560	G	A	COL11A1	c.4661C>T	NM_001854.4	NP_001845.3:p.(Thr1554Met)	NC_000001.10:g.103352560G>A	(Likely) benign	1 lab	eed0e0ec1f
8:145741130 RECQL4 C>T	8	145741130	145741130	C	T	RECQL4	c.1258+18G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145741130C>T	(Likely) benign	1 lab	2de021934a
5:118829515 HSD17B4 C>T	5	118829515	118829515	C	T	HSD17B4	c.742C>T	NM_000414.4	NP_000405.1:p.(Arg248Cys)	NC_000005.9:g.118829515C>T	VUS	1 lab	eed23828bd
20:50230372 ATP9A C>T	20	50230372	50230372	C	T	ATP9A	c.2416-1G>A	NM_006045.3	NP_006036.1:p.?	NC_000020.10:g.50230372C>T	(Likely) pathogenic	1 lab	eed366c265
5:14713088 ANKH G>A	5	14713088	14713088	G	A	ANKH	c.1266-6C>T	NM_054027.6	NP_473368.1:p.?	NC_000005.9:g.14713088G>A	VUS	1 lab	eed3a2f20e
21:44479327 CBS C>T	21	44479327	44479327	C	T	CBS	c.1223+9G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44479327C>T	(Likely) benign	1 lab	eed3c3645e
8:145583703 SLC52A2 C>T	8	145583703	145583703	C	T	SLC52A2	c.551C>T	NM_001363118.2	NP_001350047.1:p.(Pro184Leu)	NC_000008.10:g.145583703C>T	VUS	1 lab	eed4e8fd61
11:20658711 SLC6A5 G>C	11	20658711	20658711	G	C	SLC6A5	c.1738-7G>C	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20658711G>C	(Likely) benign	1 lab	eed5fd65f6
X:132159922 USP26 G>A	X	132159922	132159922	G	A	USP26	c.2327C>T	NM_031907.3	NP_114113.1:p.(Thr776Ile)	NC_000023.10:g.132159922G>A	VUS	1 lab	eed76eb962
X:153141460 L1CAM G>A	X	153141460	153141460	G	A	L1CAM	c.-108-61C>T	NM_001278116.2	NP_001265045.1:p.?	NC_000023.10:g.153141460G>A	VUS	1 lab	eed8cfc1e0
19:48946277 GRIN2D G>T	19	48946277	48946277	G	T	GRIN2D	c.3094G>T	NM_000836.4	NP_000827.2:p.(Ala1032Ser)	NC_000019.9:g.48946277G>T	VUS	1 lab	2de69f8776
3:58156440 FLNB G>T	3	58156440	58156440	G	T	FLNB	c.7760G>T	NM_001457.4	NP_001448.2:p.(Trp2587Leu)	NC_000003.11:g.58156440G>T	VUS	1 lab	eeddcd6266
5:176002984 CDHR2 A>G	5	176002984	176002984	A	G	CDHR2	c.992A>G	NM_017675.6	NP_060145.3:p.(Gln331Arg)	NC_000005.9:g.176002984A>G	(Likely) benign	1 lab	eede471aac
1:55337168 DHCR24 G>A	1	55337168	55337168	G	A	DHCR24	c.731C>T	NM_014762.4	NP_055577.1:p.(Pro244Leu)	NC_000001.10:g.55337168G>A	VUS	1 lab	eede5569c8
14:29236703 FOXG1 A>AGCCGCCGCC	14	29236703	29236721	A	AGCCGCCGCC	FOXG1	c.228_236dup	NM_005249.5	NP_005240.3:p.(Pro78_Pro80dup)	NC_000014.8:g.29236713_29236721dup	(Likely) benign	1 lab	eede80677d
19:38993442 RYR1 G>A	19	38993442	38993442	G	A	RYR1	c.7835+75G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38993442G>A	(Likely) benign	1 lab	eedf10b335
5:89913740 ADGRV1 C>T	5	89913740	89913740	C	T	ADGRV1	c.327C>T	NM_032119.4	NP_115495.3:p.(Asp109=)	NC_000005.9:g.89913740C>T	(Likely) benign	1 lab	30c92862b4
6:157528210 ARID1B A>G	6	157528210	157528210	A	G	ARID1B	c.6304A>G	NM_001374828.1	NP_001361757.1:p.(Ile2102Val)	NC_000006.11:g.157528210A>G	VUS	1 lab	eedfd22550
X:39937231 BCOR A>G	X	39937231	39937231	A	G	BCOR	c.-40-9T>C	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39937231A>G	(Likely) benign	1 lab	eee04fd307
16:16256941 ABCC6 C>T	16	16256941	16256941	C	T	ABCC6	c.3415G>A	NM_001171.6	NP_001162.5:p.(Ala1139Thr)	NC_000016.9:g.16256941C>T	(Likely) pathogenic	1 lab	eee130d70a
8:110441669 PKHD1L1 G>A	8	110441669	110441669	G	A	PKHD1L1	c.3101G>A	NM_177531.6	NP_803875.2:p.(Arg1034His)	NC_000008.10:g.110441669G>A	VUS	1 lab	eee28ecf1f
3:58090896 FLNB C>T	3	58090896	58090896	C	T	FLNB	c.1700C>T	NM_001457.4	NP_001448.2:p.(Ser567Leu)	NC_000003.11:g.58090896C>T	VUS	1 lab	eee3993dd5
1:955735 AGRN G>C	1	955735	955735	G	C	AGRN	c.183G>C	NM_198576.4	NP_940978.2:p.(Gln61His)	NC_000001.10:g.955735G>C	VUS	1 lab	eee3b1ab92
7:139661721 TBXAS1 C>T	7	139661721	139661721	C	T	TBXAS1	c.823C>T	NM_001061.7	NP_001052.3:p.(Arg275Trp)	NC_000007.13:g.139661721C>T	VUS	1 lab	eee5aa8b8b
4:3494884 DOK7 G>A	4	3494884	3494884	G	A	DOK7	c.1171G>A	NM_173660.5	NP_775931.3:p.(Gly391Arg)	NC_000004.11:g.3494884G>A	(Likely) benign	1 lab	eee87c4a00
2:120690059 PTPN4 C>T	2	120690059	120690059	C	T	PTPN4	c.1130C>T	NM_002830.4	NP_002821.1:p.(Ser377Leu)	NC_000002.11:g.120690059C>T	(Likely) benign	1 lab	eeeadf74d0
1:1564858 MIB2 G>A	1	1564858	1564858	G	A	MIB2	c.2475G>A	NM_001170687.4	NP_001164158.3:p.(Pro825=)	NC_000001.10:g.1564858G>A	(Likely) benign	1 lab	eeeb2dc9ff
4:122747117 BBS7 A>C	4	122747117	122747117	A	C	BBS7	c.2046T>G	NM_176824.3	NP_789794.1:p.(Phe682Leu)	NC_000004.11:g.122747117A>C	VUS	1 lab	eeecf4bdb7
11:64428279 NRXN2 G>A	11	64428279	64428279	G	A	NRXN2	c.2131C>T	NM_015080.4	NP_055895.1:p.(Arg711Cys)	NC_000011.9:g.64428279G>A	VUS	1 lab	eeedd6a090
19:14070133 DCAF15 G>A	19	14070133	14070133	G	A	DCAF15	c.1061G>A	NM_138353.4	NP_612362.2:p.(Arg354His)	NC_000019.9:g.14070133G>A	VUS	1 lab	eeef312823
X:57162269 SPIN2A CA>C	X	57162269	57162272	CA	C	SPIN2A	c.761del	NM_019003.5	NP_061876.3:p.(Leu254TrpfsTer2)	NC_000023.10:g.57162272del	VUS	1 lab	eef0e18bdf
6:29274887 OR14J1 C>T	6	29274887	29274887	C	T	OR14J1	c.421C>T	NM_030946.2	NP_112208.1:p.(His141Tyr)	NC_000006.11:g.29274887C>T	VUS	1 lab	eef2616074
2:166904121 SCN1A G>A	2	166904121	166904121	G	A	SCN1A	c.1170+16C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166904121G>A	(Likely) benign	1 lab	30c9bb9e2c
4:90872862 MMRN1 C>A	4	90872862	90872862	C	A	MMRN1	c.3225C>A	NM_007351.3	NP_031377.2:p.(Asn1075Lys)	NC_000004.11:g.90872862C>A	VUS	1 lab	eef4b047d0
17:40849947 CNTNAP1 T>G	17	40849947	40849947	T	G	CNTNAP1	c.3841T>G	NM_003632.3	NP_003623.1:p.(Trp1281Gly)	NC_000017.10:g.40849947T>G	VUS	1 lab	2de71850a5
11:117280375 CEP164 C>T	11	117280375	117280375	C	T	CEP164	c.3790C>T	NM_014956.5	NP_055771.4:p.(Leu1264Phe)	NC_000011.9:g.117280375C>T	(Likely) benign	1 lab	eef5be96bf
4:1729764 TACC3 ACAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG>A	4	1729764	1729830	ACAAAGCGGAGACTCCGCACGGAGCCGAGGAAGAATG	A	TACC3	c.666_701del	NM_006342.3	NP_006333.1:p.(Lys225_Cys236del)	NC_000004.11:g.1729795_1729830del	VUS	1 lab	eef76668fe
6:49403240 MMUT G>T	6	49403240	49403240	G	T	MMUT	c.2053C>A	NM_000255.4	NP_000246.2:p.(Leu685Ile)	NC_000006.11:g.49403240G>T	(Likely) benign	1 lab	eef826194a
4:996818 IDUA C>G	4	996818	996818	C	G	IDUA	c.1403-6C>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996818C>G	(Likely) benign	1 lab	eef830c9a7
17:78064116 CCDC40 C>CGGGACGCGCGCAGGCACGTGCACGAACAA	17	78064116	78064173	C	CGGGACGCGCGCAGGCACGTGCACGAACAA	CCDC40	c.2832+462_2832+490dup	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064145_78064173dup	(Likely) benign	1 lab	eefa86f9c9
22:51160509 SHANK3 C>A	22	51160509	51160509	C	A	SHANK3	c.4473C>A	NM_001372044.2	NP_001358973.1:p.(Pro1491=)	NC_000022.10:g.51160509C>A	VUS	1 lab	eefc779fd2
7:6017219 PMS2 C>T	7	6017219	6017219	C	T	PMS2	c.2445G>A	NM_000535.7	NP_000526.2:p.(Ser815=)	NC_000007.13:g.6017219C>T	VUS	1 lab	eefc8e4ed6
20:10644625 JAG1 C>T	20	10644625	10644625	C	T	JAG1	c.425G>A	NM_000214.3	NP_000205.1:p.(Ser142Asn)	NC_000020.10:g.10644625C>T	(Likely) benign	1 lab	eefd4f2eef
14:57272137 OTX2 T>C	14	57272137	57272137	T	C	OTX2	c.38A>G	NM_021728.4	NP_068374.1:p.(Asn13Ser)	NC_000014.8:g.57272137T>C	VUS	1 lab	eefe185d78
2:179496987 TTN T>A	2	179496987	179496987	T	A	TTN	c.43634A>T	NM_001267550.2	NP_001254479.2:p.(Gln14545Leu)	NC_000002.11:g.179496987T>A	VUS	1 lab	eefe600c66
14:59014563 KIAA0586 G>A	14	59014563	59014563	G	A	KIAA0586	c.4560G>A	NM_001329943.3	NP_001316872.1:p.(Pro1520=)	NC_000014.8:g.59014563G>A	(Likely) benign	1 lab	eefe9d7d93
19:15292438 NOTCH3 G>T	19	15292438	15292438	G	T	NOTCH3	c.2741C>A	NM_000435.3	NP_000426.2:p.(Pro914Gln)	NC_000019.9:g.15292438G>T	VUS	1 lab	eefee6cb1a
4:6279371 WFS1 C>T	4	6279371	6279371	C	T	WFS1	c.189C>T	NM_006005.3	NP_005996.2:p.(Pro63=)	NC_000004.11:g.6279371C>T	(Likely) benign	1 lab	eefef98334
17:7980420 ALOX12B G>T	17	7980420	7980420	G	T	ALOX12B	c.1163C>A	NM_001139.3	NP_001130.1:p.(Ala388Glu)	NC_000017.10:g.7980420G>T	VUS	1 lab	ef02134666
5:149509520 PDGFRB T>G	5	149509520	149509520	T	G	PDGFRB	c.1379A>C	NM_002609.4	NP_002600.1:p.(Glu460Ala)	NC_000005.9:g.149509520T>G	(Likely) benign	1 lab	ef02749d3b
16:3452318 ZNF174 G>A	16	3452318	3452318	G	A	ZNF174	c.314G>A	NM_003450.3	NP_003441.1:p.(Arg105Gln)	NC_000016.9:g.3452318G>A	(Likely) benign	1 lab	ef03fd3b0e
2:196602724 DNAH7 G>GCAAT	2	196602724	196602730	G	GCAAT	DNAH7	c.11992_11995dup	NM_018897.3	NP_061720.2:p.(Ala3999AspfsTer8)	NC_000002.11:g.196602727_196602730dup	VUS	1 lab	ef04a0520a
10:64957320 JMJD1C T>C	10	64957320	64957320	T	C	JMJD1C	c.5495A>G	NM_032776.3	NP_116165.1:p.(Lys1832Arg)	NC_000010.10:g.64957320T>C	VUS	1 lab	ef04e287b7
X:2825596 ARSD C>T	X	2825596	2825596	C	T	ARSD	c.1498G>A	NM_001669.4	NP_001660.2:p.(Val500Ile)	NC_000023.10:g.2825596C>T	(Likely) benign	1 lab	ef052dc075
9:134006186 NUP214 T>C	9	134006186	134006186	T	C	NUP214	c.626T>C	NM_005085.4	NP_005076.3:p.(Val209Ala)	NC_000009.11:g.134006186T>C	VUS	1 lab	ef0562fc1f
18:12356692 AFG3L2 C>T	18	12356692	12356692	C	T	AFG3L2	c.1164+1G>A	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12356692C>T	VUS	1 lab	ef07378e23
7:83036495 SEMA3E A>G	7	83036495	83036495	A	G	SEMA3E	c.731T>C	NM_012431.3	NP_036563.1:p.(Val244Ala)	NC_000007.13:g.83036495A>G	(Likely) benign	1 lab	ef07b630cc
5:36985793 NIPBL G>C	5	36985793	36985793	G	C	NIPBL	c.2511G>C	NM_133433.4	NP_597677.2:p.(Gln837His)	NC_000005.9:g.36985793G>C	VUS	1 lab	ef0853c430
1:103488504 COL11A1 C>T	1	103488504	103488504	C	T	COL11A1	c.1039G>A	NM_001854.4	NP_001845.3:p.(Asp347Asn)	NC_000001.10:g.103488504C>T	VUS	1 lab	ef09973396
14:23901033 MYH7 GA>G	14	23901033	23901034	GA	G	MYH7	c.575del	NM_000257.4	NP_000248.2:p.(Ile192ThrfsTer72)	NC_000014.8:g.23901034del	VUS	1 lab	ef0d9a9016
14:23549256 ACIN1 C>T	14	23549256	23549256	C	T	ACIN1	c.1288G>A	NM_001386863.1	NP_001373792.1:p.(Ala430Thr)	NC_000014.8:g.23549256C>T	(Likely) benign	1 lab	ef0e13bb8a
16:3779060 CREBBP G>A	16	3779060	3779060	G	A	CREBBP	c.5988C>T	NM_004380.3	NP_004371.2:p.(Ala1996=)	NC_000016.9:g.3779060G>A	(Likely) benign	1 lab	ef0f4f0e7f
5:113698125 KCNN2 G>A	5	113698125	113698125	G	A	KCNN2	c.289G>A	NM_021614.4	NP_067627.3:p.(Gly97Ser)	NC_000005.9:g.113698125G>A	VUS	1 lab	ef0fcc4345
4:126398374 FAT4 C>G	4	126398374	126398374	C	G	FAT4	c.12364C>G	NM_001291303.3	NP_001278232.1:p.(Gln4122Glu)	NC_000004.11:g.126398374C>G	VUS	1 lab	ef1008627c
4:107169445 TBCK TCA>T	4	107169445	107169449	TCA	T	TBCK	c.737_738del	NM_001163435.3	NP_001156907.2:p.(Val246AspfsTer6)	NC_000004.11:g.107169448_107169449del	(Likely) pathogenic	1 lab	ef10339b41
1:1274771 DVL1 G>T	1	1274771	1274771	G	T	DVL1	c.1103C>A	NM_001330311.2	NP_001317240.1:p.(Ala368Glu)	NC_000001.10:g.1274771G>T	(Likely) benign	1 lab	ef116ae506
X:19971119 BCLAF3 T>C	X	19971119	19971119	T	C	BCLAF3	c.1616A>G	NM_001367774.2	NP_001354703.1:p.(Tyr539Cys)	NC_000023.10:g.19971119T>C	VUS	1 lab	ef13f340c9
1:53925356 DMRTB1 C>G	1	53925356	53925356	C	G	DMRTB1	c.230C>G	NM_033067.3	NP_149056.1:p.(Ala77Gly)	NC_000001.10:g.53925356C>G	(Likely) benign	1 lab	ef1448a616
17:42979785 DNAAF19 G>A	17	42979785	42979785	G	A	DNAAF19	c.329G>A	NM_213607.3	NP_998772.1:p.(Arg110Gln)	NC_000017.10:g.42979785G>A	VUS	1 lab	ef149ed838
9:14155819 NFIB C>A	9	14155819	14155819	C	A	NFIB	c.685+5G>T	NM_001190737.2	NP_001177666.1:p.?	NC_000009.11:g.14155819C>A	VUS	1 lab	ef155763dc
3:48627100 COL7A1 G>A	3	48627100	48627100	G	A	COL7A1	c.2102C>T	NM_000094.4	NP_000085.1:p.(Ser701Phe)	NC_000003.11:g.48627100G>A	VUS	1 lab	2dec6f6f67
10:89472880 PAPSS2 A>G	10	89472880	89472880	A	G	PAPSS2	c.194A>G	NM_001015880.2	NP_001015880.1:p.(Tyr65Cys)	NC_000010.10:g.89472880A>G	VUS	1 lab	ef1643d18d
2:25505549 DNMT3A G>A	2	25505549	25505549	G	A	DNMT3A	c.209C>T	NM_022552.5	NP_072046.2:p.(Ala70Val)	NC_000002.11:g.25505549G>A	(Likely) benign	1 lab	ef16f528c4
15:42983209 STARD9 G>T	15	42983209	42983209	G	T	STARD9	c.9433G>T	NM_020759.3	NP_065810.2:p.(Asp3145Tyr)	NC_000015.9:g.42983209G>T	(Likely) benign	1 lab	ef18cf0545
15:90176416 KIF7 G>A	15	90176416	90176416	G	A	KIF7	c.2674C>T	NM_198525.3	NP_940927.2:p.(Arg892Cys)	NC_000015.9:g.90176416G>A	VUS	1 lab	ef19268aa1
14:51210128 NIN A>C	14	51210128	51210128	A	C	NIN	c.5301+6T>G	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51210128A>C	VUS	1 lab	ef1a314915
5:1201838 SLC6A19 G>C	5	1201838	1201838	G	C	SLC6A19	c.73G>C	NM_001003841.3	NP_001003841.1:p.(Glu25Gln)	NC_000005.9:g.1201838G>C	VUS	1 lab	ef1a8b7fa2
X:1752119 ASMT A>T	X	1752119	1752119	A	T	ASMT	c.723A>T	NM_001171038.2	NP_001164509.1:p.(Glu241Asp)	NC_000023.10:g.1752119A>T	VUS	1 lab	ef1e2adc90
1:87570306 HS2ST1 G>A	1	87570306	87570306	G	A	HS2ST1	c.998G>A	NM_012262.4	NP_036394.1:p.(Arg333Gln)	NC_000001.10:g.87570306G>A	(Likely) benign	1 lab	ef1eace12a
2:220432012 OBSL1 T>C	2	220432012	220432012	T	C	OBSL1	c.1820A>G	NM_015311.3	NP_056126.1:p.(His607Arg)	NC_000002.11:g.220432012T>C	(Likely) benign	1 lab	ef1fdcf41f
3:81810646 GBE1 G>A	3	81810646	81810646	G	A	GBE1	c.23C>T	NM_000158.4	NP_000149.4:p.(Ala8Val)	NC_000003.11:g.81810646G>A	VUS	1 lab	ef203e93c6
12:56350747 PMEL G>A	12	56350747	56350747	G	A	PMEL	c.1340C>T	NM_001384361.1	NP_001371290.1:p.(Thr447Met)	NC_000012.11:g.56350747G>A	(Likely) benign	1 lab	ef20c0a731
4:2814050 SH3BP2 G>A	4	2814050	2814050	G	A	SH3BP2	c.-4-8291G>A	NM_001122681.2	NP_001116153.1:p.?	NC_000004.11:g.2814050G>A	VUS	1 lab	ef221b8da9
X:10437724 MID1 A>G	X	10437724	10437724	A	G	MID1	c.1285+13T>C	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10437724A>G	VUS	1 lab	ef22b1fed3
4:5664939 EVC2 G>A	4	5664939	5664939	G	A	EVC2	c.1040C>T	NM_147127.5	NP_667338.3:p.(Pro347Leu)	NC_000004.11:g.5664939G>A	VUS	1 lab	ef2858c107
2:152520209 NEB C>T	2	152520209	152520209	C	T	NEB	c.5616G>A	NM_001164508.2	NP_001157980.2:p.(Pro1872=)	NC_000002.11:g.152520209C>T	(Likely) benign	1 lab	ef29de0f56
11:64669448 ATG2A C>T	11	64669448	64669448	C	T	ATG2A	c.4105G>A	NM_015104.3	NP_055919.2:p.(Gly1369Ser)	NC_000011.9:g.64669448C>T	VUS	1 lab	ef2c307ecf
1:32279794 SPOCD1 C>T	1	32279794	32279794	C	T	SPOCD1	c.1141G>A	NM_144569.7	NP_653170.3:p.(Ala381Thr)	NC_000001.10:g.32279794C>T	(Likely) benign	1 lab	ef2ce9d563
1:202718203 KDM5B TG>T	1	202718203	202718206	TG	T	KDM5B	c.1885del	NM_006618.5	NP_006609.3:p.(His629ThrfsTer4)	NC_000001.10:g.202718206del	(Likely) pathogenic	1 lab	ef2d4dc4de
10:89621806 KLLN CG>C	10	89621806	89621810	CG	C	KLLN	c.438del	NM_001126049.2	NP_001119521.1:p.(Ala147ProfsTer35)	NC_000010.10:g.89621810del	VUS	1 lab	ef2df875e7
15:64496653 CSNK1G1 A>G	15	64496653	64496653	A	G	CSNK1G1	c.986T>C	NM_022048.5	NP_071331.2:p.(Val329Ala)	NC_000015.9:g.64496653A>G	(Likely) benign	1 lab	ef2e27027b
4:178363475 AGA C>A	4	178363475	178363475	C	A	AGA	c.55G>T	NM_000027.4	NP_000018.2:p.(Ala19Ser)	NC_000004.11:g.178363475C>A	(Likely) benign	1 lab	ef2f07d0c8
11:17450115 ABCC8 C>T	11	17450115	17450115	C	T	ABCC8	c.1920G>A	NM_000352.6	NP_000343.2:p.(Ala640=)	NC_000011.9:g.17450115C>T	(Likely) benign	1 lab	ef305dce4f
15:42694997 CAPN3 C>T	15	42694997	42694997	C	T	CAPN3	c.1542C>T	NM_000070.3	NP_000061.1:p.(His514=)	NC_000015.9:g.42694997C>T	(Likely) benign	1 lab	ef30a10ff9
3:81635359 GBE1 G>A	3	81635359	81635359	G	A	GBE1	c.1237-18C>T	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81635359G>A	(Likely) benign	1 lab	ef33eed59b
16:77323312 ADAMTS18 C>T	16	77323312	77323312	C	T	ADAMTS18	c.3403-4G>A	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77323312C>T	(Likely) benign	1 lab	ef35280ad9
15:48780326 FBN1 C>T	15	48780326	48780326	C	T	FBN1	c.3321G>A	NM_000138.5	NP_000129.3:p.(Met1107Ile)	NC_000015.9:g.48780326C>T	VUS	1 lab	ef369f941a
2:112614440 ANAPC1 T>A	2	112614440	112614440	T	A	ANAPC1	c.1382A>T	NM_022662.4	NP_073153.1:p.(Asn461Ile)	NC_000002.11:g.112614440T>A	VUS	1 lab	ef373ba32b
2:179424044 TTN T>C	2	179424044	179424044	T	C	TTN	c.86815A>G	NM_001267550.2	NP_001254479.2:p.(Ile28939Val)	NC_000002.11:g.179424044T>C	(Likely) benign	1 lab	ef37571036
20:60910176 LAMA5 C>T	20	60910176	60910176	C	T	LAMA5	c.2383G>A	NM_005560.6	NP_005551.3:p.(Gly795Ser)	NC_000020.10:g.60910176C>T	VUS	1 lab	ef382e340d
16:89345769 ANKRD11 T>C	16	89345769	89345769	T	C	ANKRD11	c.7181A>G	NM_013275.6	NP_037407.4:p.(Gln2394Arg)	NC_000016.9:g.89345769T>C	VUS	1 lab	ef38350f28
4:123183909 BLTP1 C>T	4	123183909	123183909	C	T	BLTP1	c.6763-10C>T	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123183909C>T	(Likely) benign	1 lab	ef38db34fd
1:160093857 ATP1A2 A>C	1	160093857	160093857	A	C	ATP1A2	c.495+11A>C	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160093857A>C	(Likely) benign	1 lab	ef3971fa44
1:235600751 TBCE G>A	1	235600751	235600751	G	A	TBCE	c.1078G>A	NM_003193.5	NP_003184.1:p.(Ala360Thr)	NC_000001.10:g.235600751G>A	VUS	1 lab	ef39c7daa9
2:201943620 NDUFB3 T>G	2	201943620	201943620	T	G	NDUFB3	c.15T>G	NM_002491.3	NP_002482.1:p.(His5Gln)	NC_000002.11:g.201943620T>G	VUS	1 lab	ef3a5d436a
10:61833956 ANK3 T>C	10	61833956	61833956	T	C	ANK3	c.6683A>G	NM_020987.5	NP_066267.2:p.(Asp2228Gly)	NC_000010.10:g.61833956T>C	VUS	1 lab	ef3aaeaa6f
2:27700965 IFT172 T>C	2	27700965	27700965	T	C	IFT172	c.1064A>G	NM_015662.3	NP_056477.1:p.(Tyr355Cys)	NC_000002.11:g.27700965T>C	VUS	1 lab	ef3be27fac
12:13717203 GRIN2B C>T	12	13717203	13717203	C	T	GRIN2B	c.2969G>A	NM_000834.5	NP_000825.2:p.(Arg990Gln)	NC_000012.11:g.13717203C>T	VUS	1 lab	ef3e85acb1
16:88792725 PIEZO1 G>A	16	88792725	88792725	G	A	PIEZO1	c.3935C>T	NM_001142864.4	NP_001136336.2:p.(Ala1312Val)	NC_000016.9:g.88792725G>A	(Likely) benign	1 lab	ef3ed4bf5c
6:94120898 EPHA7 T>G	6	94120898	94120898	T	G	EPHA7	c.163-10A>C	NM_004440.4	NP_004431.1:p.?	NC_000006.11:g.94120898T>G	(Likely) benign	1 lab	ef4079150b
3:165491208 BCHE C>T	3	165491208	165491208	C	T	BCHE	c.1771G>A	NM_000055.4	NP_000046.1:p.(Asp591Asn)	NC_000003.11:g.165491208C>T	(Likely) benign	1 lab	ef40f3c5bb
17:48264127 COL1A1 C>T	17	48264127	48264127	C	T	COL1A1	c.3688G>A	NM_000088.4	NP_000079.2:p.(Glu1230Lys)	NC_000017.10:g.48264127C>T	VUS	1 lab	ef42547378
1:6505846 ESPN CCGCCA>C	1	6505846	6505852	CCGCCA	C	ESPN	c.1317_1321del	NM_031475.3	NP_113663.2:p.(Pro441AlafsTer26)	NC_000001.10:g.6505848_6505852del	VUS	1 lab	ef4264c765
18:2796523 SMCHD1 AGTTT>A	18	2796523	2796532	AGTTT	A	SMCHD1	c.5993+10_5993+13del	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2796529_2796532del	(Likely) benign	1 lab	ef4360afee
8:1616675 DLGAP2 C>T	8	1616675	1616675	C	T	DLGAP2	c.1991C>T	NM_001346810.2	NP_001333739.1:p.(Thr664Met)	NC_000008.10:g.1616675C>T	(Likely) benign	1 lab	ef4702490c
12:80722827 OTOGL G>A	12	80722827	80722827	G	A	OTOGL	c.4280-4G>A	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80722827G>A	(Likely) benign	1 lab	ef47d11899
7:44156808 POLD2 C>T	7	44156808	44156808	C	T	POLD2	c.505G>A	NM_006230.4	NP_006221.3:p.(Gly169Arg)	NC_000007.13:g.44156808C>T	VUS	1 lab	ef491136fd
5:86665665 RASA1 G>A	5	86665665	86665665	G	A	RASA1	c.1646G>A	NM_002890.3	NP_002881.1:p.(Ser549Asn)	NC_000005.9:g.86665665G>A	VUS	1 lab	ef4a296850
15:37391803 MEIS2 A>AT	15	37391803	37391809	A	AT	MEIS2	c.-137dup	NM_170675.5	NP_733775.1:p.?	NC_000015.9:g.37391809dup	(Likely) benign	1 lab	ef4d214f0c
19:17298864 MYO9B A>T	19	17298864	17298864	A	T	MYO9B	c.2688+10A>T	NM_004145.4	NP_004136.2:p.?	NC_000019.9:g.17298864A>T	(Likely) benign	1 lab	ef4d38c244
3:182584164 ATP11B G>A	3	182584164	182584164	G	A	ATP11B	c.1552G>A	NM_014616.3	NP_055431.1:p.(Ala518Thr)	NC_000003.11:g.182584164G>A	(Likely) benign	1 lab	ef4e871070
12:113266178 RPH3A C>T	12	113266178	113266178	C	T	RPH3A	c.55C>T	NM_001143854.2	NP_001137326.1:p.(Arg19Trp)	NC_000012.11:g.113266178C>T	(Likely) benign	1 lab	ef4eb476cd
14:51233120 NIN A>AG	14	51233120	51233124	A	AG	NIN	c.1546-7dup	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51233124dup	(Likely) benign	1 lab	ef520b9814
2:179612446 TTN T>A	2	179612446	179612446	T	A	TTN	c.11311+5405A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612446T>A	(Likely) benign	1 lab	ef52150d20
13:108518313 NALF1 T>C	13	108518313	108518313	T	C	NALF1	c.632A>G	NM_001080396.3	NP_001073865.1:p.(His211Arg)	NC_000013.10:g.108518313T>C	VUS	1 lab	ef527caf9d
8:125575023 MTSS1 C>T	8	125575023	125575023	C	T	MTSS1	c.1035G>A	NM_014751.6	NP_055566.3:p.(Gln345=)	NC_000008.10:g.125575023C>T	VUS	1 lab	ef52c31e47
X:66766356 AR TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	T	AR	c.1391_1420del	NM_000044.6	NP_000035.2:p.(Gly464_Gly473del)	NC_000023.10:g.66766379_66766408del	VUS	1 lab	ef53dc9127
11:63974812 FERMT3 ACT>A	11	63974812	63974818	ACT	A	FERMT3	c.-14-6_-14-5del	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63974817_63974818del	(Likely) benign	1 lab	ef542730f7
20:44642855 MMP9 G>T	20	44642855	44642855	G	T	MMP9	c.1843G>T	NM_004994.3	NP_004985.2:p.(Gly615Trp)	NC_000020.10:g.44642855G>T	VUS	1 lab	ef544e17fc
19:10247809 DNMT1 C>T	19	10247809	10247809	C	T	DNMT1	c.4441G>A	NM_001130823.3	NP_001124295.1:p.(Gly1481Ser)	NC_000019.9:g.10247809C>T	VUS	1 lab	ef5768dda8
4:170359311 NEK1 G>C	4	170359311	170359311	G	C	NEK1	c.2687C>G	NM_001199397.3	NP_001186326.1:p.(Ser896Cys)	NC_000004.11:g.170359311G>C	VUS	1 lab	ef594fc161
1:228434277 OBSCN G>A	1	228434277	228434277	G	A	OBSCN	c.4082G>A	NM_001386125.1	NP_001373054.1:p.(Arg1361Gln)	NC_000001.10:g.228434277G>A	(Likely) benign	1 lab	ef5a1b293e
16:8829621 ABAT C>T	16	8829621	8829621	C	T	ABAT	c.25C>T	NM_020686.6	NP_065737.2:p.(Arg9Cys)	NC_000016.9:g.8829621C>T	VUS	1 lab	ef5fbade1d
19:50826514 KCNC3 G>A	19	50826514	50826514	G	A	KCNC3	c.1696C>T	NM_004977.3	NP_004968.2:p.(Pro566Ser)	NC_000019.9:g.50826514G>A	VUS	1 lab	ef5fc693aa
7:82595653 PCLO G>C	7	82595653	82595653	G	C	PCLO	c.3451C>G	NM_033026.6	NP_149015.2:p.(Pro1151Ala)	NC_000007.13:g.82595653G>C	(Likely) benign	1 lab	ef6182f620
17:10595249 SCO1 G>A	17	10595249	10595249	G	A	SCO1	c.595C>T	NM_004589.4	NP_004580.1:p.(Leu199Phe)	NC_000017.10:g.10595249G>A	VUS	1 lab	ef651b5b42
19:15311694 NOTCH3 C>T	19	15311694	15311694	C	T	NOTCH3	c.23G>A	NM_000435.3	NP_000426.2:p.(Arg8His)	NC_000019.9:g.15311694C>T	(Likely) benign	1 lab	ef6527897b
10:89728671 PTEN T>TA	10	89728671	89728692	T	TA	PTEN	c.*3463dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89728692dup	(Likely) benign	1 lab	2df1374f34
13:39261726 FREM2 C>T	13	39261726	39261726	C	T	FREM2	c.245C>T	NM_207361.6	NP_997244.4:p.(Pro82Leu)	NC_000013.10:g.39261726C>T	VUS	1 lab	ef677836d8
19:11343970 DOCK6 G>A	19	11343970	11343970	G	A	DOCK6	c.2627C>T	NM_020812.4	NP_065863.2:p.(Ala876Val)	NC_000019.9:g.11343970G>A	VUS	1 lab	ef677aa638
3:195508138 MUC4 G>A	3	195508138	195508138	G	A	MUC4	c.10313C>T	NM_018406.7	NP_060876.5:p.(Ala3438Val)	NC_000003.11:g.195508138G>A	(Likely) benign	1 lab	ef68609157
11:1955676 TNNT3 G>A	11	1955676	1955676	G	A	TNNT3	c.480+1G>A	NM_006757.4	NP_006748.1:p.?	NC_000011.9:g.1955676G>A	VUS	1 lab	ef691569dd
12:49426469 KMT2D G>T	12	49426469	49426469	G	T	KMT2D	c.12019C>A	NM_003482.4	NP_003473.3:p.(Gln4007Lys)	NC_000012.11:g.49426469G>T	(Likely) benign	1 lab	ef6a897f99
9:88193971 AGTPBP1 C>A	9	88193971	88193971	C	A	AGTPBP1	c.3206G>T	NM_001330701.2	NP_001317630.1:p.(Cys1069Phe)	NC_000009.11:g.88193971C>A	VUS	1 lab	ef6ab418de
17:4995270 ZFP3 C>G	17	4995270	4995270	C	G	ZFP3	c.471C>G	NM_153018.3	NP_694563.1:p.(Ile157Met)	NC_000017.10:g.4995270C>G	(Likely) benign	1 lab	ef6b9632e5
2:170136997 LRP2 G>A	2	170136997	170136997	G	A	LRP2	c.1204C>T	NM_004525.3	NP_004516.2:p.(Arg402Trp)	NC_000002.11:g.170136997G>A	VUS	1 lab	ef6c227cf8
19:48201967 BICRA G>A	19	48201967	48201967	G	A	BICRA	c.3325G>A	NM_001394372.1	NP_001381301.1:p.(Asp1109Asn)	NC_000019.9:g.48201967G>A	(Likely) benign	1 lab	ef6d13b638
X:27765444 DCAF8L2 GGAA>G	X	27765444	27765453	GGAA	G	DCAF8L2	c.439_441del	NM_001353450.2	NP_001340379.1:p.(Glu147del)	NC_000023.10:g.27765451_27765453del	VUS	1 lab	ef6eb49647
2:26006706 ASXL2 C>CTT	2	26006706	26006707	C	CTT	ASXL2	c.404-12298_404-12297insAA	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.26006706_26006707insTT	(Likely) benign	1 lab	ef73183d23
19:50909575 POLD1 T>G	19	50909575	50909575	T	G	POLD1	c.1379T>G	NM_002691.4	NP_002682.2:p.(Leu460Arg)	NC_000019.9:g.50909575T>G	(Likely) pathogenic	1 lab	ef736d53c2
8:41790686 KAT6A C>CTGCGGCTGCTGT	8	41790686	41790709	C	CTGCGGCTGCTGT	KAT6A	c.5040_5051dup	NM_006766.5	NP_006757.2:p.(Gln1681_Gln1684dup)	NC_000008.10:g.41790698_41790709dup	(Likely) benign	1 lab	ef736d8558
1:14107658 PRDM2 ATGT>A	1	14107658	14107668	ATGT	A	PRDM2	c.3376_3378del	NM_001393986.1	NP_001380915.1:p.(Val1126del)	NC_000001.10:g.14107666_14107668del	VUS	1 lab	ef745cf1c8
6:35209017 SCUBE3 T>C	6	35209017	35209017	T	C	SCUBE3	c.1169T>C	NM_152753.4	NP_689966.2:p.(Leu390Pro)	NC_000006.11:g.35209017T>C	VUS	1 lab	ef76ade55c
10:73575006 CDH23 G>C	10	73575006	73575006	G	C	CDH23	c.10036G>C	NM_022124.6	NP_071407.4:p.(Glu3346Gln)	NC_000010.10:g.73575006G>C	(Likely) benign	1 lab	ef771dab86
1:184706754 EDEM3 G>A	1	184706754	184706754	G	A	EDEM3	c.296C>T	NM_025191.4	NP_079467.3:p.(Ala99Val)	NC_000001.10:g.184706754G>A	VUS	1 lab	ef77d81189
12:102874085 IGF1 A>G	12	102874085	102874085	A	G	IGF1	c.63+12T>C	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102874085A>G	(Likely) benign	1 lab	ef787d930f
X:114424397 RBMXL3 C>T	X	114424397	114424397	C	T	RBMXL3	c.393C>T	NM_001145346.2	NP_001138818.1:p.(Arg131=)	NC_000023.10:g.114424397C>T	VUS	1 lab	ef79de3b72
15:42702844 CAPN3 G>A	15	42702844	42702844	G	A	CAPN3	c.2243G>A	NM_000070.3	NP_000061.1:p.(Arg748Gln)	NC_000015.9:g.42702844G>A	(Likely) pathogenic	1 lab	ef7a605c7b
3:120628595 STXBP5L A>G	3	120628595	120628595	A	G	STXBP5L	c.170A>G	NM_001308330.2	NP_001295259.1:p.(Glu57Gly)	NC_000003.11:g.120628595A>G	VUS	1 lab	ef7abd87ee
2:152318985 RIF1 G>A	2	152318985	152318985	G	A	RIF1	c.3363+5G>A	NM_018151.5	NP_060621.3:p.?	NC_000002.11:g.152318985G>A	(Likely) benign	1 lab	ef7b8daa27
6:491132 EXOC2 C>T	6	491132	491132	C	T	EXOC2	c.2614G>A	NM_018303.6	NP_060773.3:p.(Glu872Lys)	NC_000006.11:g.491132C>T	(Likely) benign	1 lab	ef7cece448
1:2125243 FAAP20 C>T	1	2125243	2125243	C	T	FAAP20	c.305G>A	NM_182533.4	NP_872339.3:p.(Arg102Gln)	NC_000001.10:g.2125243C>T	VUS	1 lab	ef7cf2d38a
6:129828704 LAMA2 C>T	6	129828704	129828704	C	T	LAMA2	c.8774C>T	NM_000426.4	NP_000417.3:p.(Pro2925Leu)	NC_000006.11:g.129828704C>T	(Likely) benign	1 lab	ef7d4ebefa
16:19195128 SYT17 C>T	16	19195128	19195128	C	T	SYT17	c.610C>T	NM_016524.4	NP_057608.2:p.(Arg204Cys)	NC_000016.9:g.19195128C>T	VUS	1 lab	ef7d93e3ab
18:31318930 ASXL3 G>C	18	31318930	31318930	G	C	ASXL3	c.1562G>C	NM_030632.3	NP_085135.1:p.(Gly521Ala)	NC_000018.9:g.31318930G>C	(Likely) benign	1 lab	ef7e896338
17:7399244 POLR2A CTTTCTT>C	17	7399244	7399251	CTTTCTT	C	POLR2A	c.94-14_94-9del	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7399246_7399251del	(Likely) benign	1 lab	ef8022341c
10:104157163 NFKB2 C>T	10	104157163	104157163	C	T	NFKB2	c.500C>T	NM_001322934.2	NP_001309863.1:p.(Thr167Met)	NC_000010.10:g.104157163C>T	VUS	1 lab	ef80d275bf
15:93492257 CHD2 C>T	15	93492257	93492257	C	T	CHD2	c.1453C>T	NM_001271.4	NP_001262.3:p.(Arg485Ter)	NC_000015.9:g.93492257C>T	(Likely) pathogenic	1 lab	ef84c08e5b
19:13220992 TRMT1 G>A	19	13220992	13220992	G	A	TRMT1	c.999C>T	NM_001136035.4	NP_001129507.1:p.(Ala333=)	NC_000019.9:g.13220992G>A	VUS	1 lab	ef8565643d
10:12126539 DHTKD1 G>T	10	12126539	12126539	G	T	DHTKD1	c.311G>T	NM_018706.7	NP_061176.4:p.(Gly104Val)	NC_000010.10:g.12126539G>T	VUS	1 lab	ef87c3d23a
10:12155010 DHTKD1 A>T	10	12155010	12155010	A	T	DHTKD1	c.2266A>T	NM_018706.7	NP_061176.4:p.(Asn756Tyr)	NC_000010.10:g.12155010A>T	VUS	1 lab	ef88d639da
8:95718162 ESRP1 G>C	8	95718162	95718162	G	C	ESRP1	c.*45G>C	NM_017697.4	NP_060167.2:p.?	NC_000008.10:g.95718162G>C	VUS	1 lab	ef8bad76e9
5:11385231 CTNND2 G>GA	5	11385231	11385232	G	GA	CTNND2	c.722_723insT	NM_001332.4	NP_001323.1:p.(Asp242ArgfsTer184)	NC_000005.9:g.11385231_11385232insA	VUS	1 lab	ef8c5d81ac
15:89401332 ACAN TG>T	15	89401332	89401334	TG	T	ACAN	c.5518del	NM_001369268.1	NP_001356197.1:p.(Ala1840ProfsTer11)	NC_000015.9:g.89401334del	(Likely) pathogenic	1 lab	ef8d8e668d
6:13010092 PHACTR1 GCCACCA>G	6	13010092	13010124	GCCACCA	G	PHACTR1	c.251-43478_251-43473del	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13010119_13010124del	(Likely) benign	1 lab	ef91698257
13:97639720 OXGR1 GT>G	13	97639720	97639724	GT	G	OXGR1	c.293del	NM_001346194.2	NP_001333123.1:p.(Asn98ThrfsTer37)	NC_000013.10:g.97639724del	VUS	1 lab	ef92287a11
13:115090923 CHAMP1 A>C	13	115090923	115090923	A	C	CHAMP1	c.1606A>C	NM_032436.4	NP_115812.1:p.(Lys536Gln)	NC_000013.10:g.115090923A>C	VUS	1 lab	ef929974b2
X:79947334 BRWD3 G>A	X	79947334	79947334	G	A	BRWD3	c.3469C>T	NM_153252.5	NP_694984.5:p.(Leu1157Phe)	NC_000023.10:g.79947334G>A	VUS	1 lab	ef92b16cd0
2:179535871 TTN G>T	2	179535871	179535871	G	T	TTN	c.35254C>A	NM_001267550.2	NP_001254479.2:p.(Pro11752Thr)	NC_000002.11:g.179535871G>T	VUS	1 lab	2df3ef022e
19:7125527 INSR A>G	19	7125527	7125527	A	G	INSR	c.3025T>C	NM_000208.4	NP_000199.2:p.(Ser1009Pro)	NC_000019.9:g.7125527A>G	VUS	1 lab	ef95a3173b
2:179702128 CCDC141 G>A	2	179702128	179702128	G	A	CCDC141	c.3818C>T	NM_173648.4	NP_775919.3:p.(Ala1273Val)	NC_000002.11:g.179702128G>A	(Likely) benign	1 lab	ef98cbe796
11:89069047 NOX4 G>A	11	89069047	89069047	G	A	NOX4	c.1582C>T	NM_016931.5	NP_058627.2:p.(Leu528Phe)	NC_000011.9:g.89069047G>A	VUS	1 lab	ef993f30cf
1:1116222 TTLL10 C>CG	1	1116222	1116230	C	CG	TTLL10	c.745dup	NM_001130045.2	NP_001123517.1:p.(Val249GlyfsTer57)	NC_000001.10:g.1116230dup	(Likely) benign	1 lab	ef99e6cf6f
11:67814943 TCIRG1 G>A	11	67814943	67814943	G	A	TCIRG1	c.1209G>A	NM_006019.4	NP_006010.2:p.(Met403Ile)	NC_000011.9:g.67814943G>A	VUS	1 lab	ef9cfd2c61
19:15271785 NOTCH3 G>A	19	15271785	15271785	G	A	NOTCH3	c.6654C>T	NM_000435.3	NP_000426.2:p.(Gly2218=)	NC_000019.9:g.15271785G>A	(Likely) benign	1 lab	ef9dca3559
7:50459525 IKZF1 G>A	7	50459525	50459525	G	A	IKZF1	c.814G>A	NM_006060.6	NP_006051.1:p.(Ala272Thr)	NC_000007.13:g.50459525G>A	VUS	1 lab	ef9f52ff1e
6:32010361 TNXB G>A	6	32010361	32010361	G	A	TNXB	c.12081C>T	NM_001365276.2	NP_001352205.1:p.(Pro4027=)	NC_000006.11:g.32010361G>A	VUS	1 lab	ef9f7afc39
1:112303861 DDX20 G>A	1	112303861	112303861	G	A	DDX20	c.976G>A	NM_007204.5	NP_009135.4:p.(Ala326Thr)	NC_000001.10:g.112303861G>A	(Likely) benign	1 lab	ef9fd0f593
7:5567962 ACTB C>T	7	5567962	5567962	C	T	ACTB	c.752G>A	NM_001101.5	NP_001092.1:p.(Gly251Asp)	NC_000007.13:g.5567962C>T	(Likely) pathogenic	1 lab	efa02e06b4
4:1808884 FGFR3 G>A	4	1808884	1808884	G	A	FGFR3	c.2316G>A	NM_000142.5	NP_000133.1:p.(Pro772=)	NC_000004.11:g.1808884G>A	(Likely) benign	1 lab	efa0a2ab67
X:38271121 OTC A>G	X	38271121	38271121	A	G	OTC	c.874A>G	NM_000531.6	NP_000522.3:p.(Lys292Glu)	NC_000023.10:g.38271121A>G	(Likely) benign	1 lab	efa2473664
19:46256932 MEIOSIN G>A	19	46256932	46256932	G	A	MEIOSIN	c.442G>A	NM_001310124.2	NP_001297053.1:p.(Gly148Ser)	NC_000019.9:g.46256932G>A	VUS	1 lab	efa2bde804
11:67810906 TCIRG1 G>A	11	67810906	67810906	G	A	TCIRG1	c.572G>A	NM_006019.4	NP_006010.2:p.(Arg191His)	NC_000011.9:g.67810906G>A	VUS	1 lab	efa4266feb
3:170723165 SLC2A2 A>T	3	170723165	170723165	A	T	SLC2A2	c.872T>A	NM_000340.2	NP_000331.1:p.(Ile291Lys)	NC_000003.11:g.170723165A>T	VUS	1 lab	efa47040b4
2:75115088 HK2 G>T	2	75115088	75115088	G	T	HK2	c.2278G>T	NM_000189.5	NP_000180.2:p.(Asp760Tyr)	NC_000002.11:g.75115088G>T	VUS	1 lab	efa60286ed
2:228009277 COL4A4 A>G	2	228009277	228009277	A	G	COL4A4	c.72-3T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.228009277A>G	(Likely) benign	1 lab	efa78441e7
4:113299019 ALPK1 C>T	4	113299019	113299019	C	T	ALPK1	c.86C>T	NM_025144.4	NP_079420.3:p.(Ser29Leu)	NC_000004.11:g.113299019C>T	VUS	1 lab	2df9095f35
6:117201728 RFX6 A>G	6	117201728	117201728	A	G	RFX6	c.402A>G	NM_173560.4	NP_775831.2:p.(Val134=)	NC_000006.11:g.117201728A>G	(Likely) benign	1 lab	efabed3a4d
7:148543693 EZH2 T>TA	7	148543693	148543704	T	TA	EZH2	c.118-4dup	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148543704dup	(Likely) benign	1 lab	efad11f25c
7:150912148 ABCF2 C>A	7	150912148	150912148	C	A	ABCF2	c.1551G>T	NM_007189.3	NP_009120.1:p.(Leu517Phe)	NC_000007.13:g.150912148C>A	VUS	1 lab	efb05faa7e
9:136412274 ADAMTSL2 A>G	9	136412274	136412274	A	G	ADAMTSL2	c.878A>G	NM_014694.4	NP_055509.2:p.(Tyr293Cys)	NC_000009.11:g.136412274A>G	VUS	1 lab	efb13b2e3f
7:21603968 DNAH11 C>T	7	21603968	21603968	C	T	DNAH11	c.1147C>T	NM_001277115.2	NP_001264044.1:p.(Arg383Trp)	NC_000007.13:g.21603968C>T	VUS	1 lab	efb32c4c6e
X:57620751 ZXDB C>T	X	57620751	57620751	C	T	ZXDB	c.2270C>T	NM_007157.4	NP_009088.1:p.(Ala757Val)	NC_000023.10:g.57620751C>T	VUS	1 lab	efb3f4e0be
18:67755274 RTTN A>G	18	67755274	67755274	A	G	RTTN	c.4253T>C	NM_173630.4	NP_775901.3:p.(Val1418Ala)	NC_000018.9:g.67755274A>G	VUS	1 lab	efb64d4c75
21:41385045 DSCAM C>T	21	41385045	41385045	C	T	DSCAM	c.5955G>A	NM_001389.5	NP_001380.2:p.(Met1985Ile)	NC_000021.8:g.41385045C>T	VUS	1 lab	efb64f92b5
17:78188071 SGSH G>A	17	78188071	78188071	G	A	SGSH	c.563C>T	NM_000199.5	NP_000190.1:p.(Pro188Leu)	NC_000017.10:g.78188071G>A	VUS	1 lab	efb66f260d
3:52554029 STAB1 G>T	3	52554029	52554029	G	T	STAB1	c.5305G>T	NM_015136.3	NP_055951.2:p.(Ala1769Ser)	NC_000003.11:g.52554029G>T	(Likely) benign	1 lab	efb68ef311
7:2584550 BRAT1 GGCCAGGAAGCGCAGGGCGCTGGGGTGCTGT>G	7	2584550	2584586	GGCCAGGAAGCGCAGGGCGCTGGGGTGCTGT	G	BRAT1	c.393_422del	NM_152743.4	NP_689956.2:p.(Gln132_Ala141del)	NC_000007.13:g.2584557_2584586del	VUS	1 lab	efb6a7a1ca
21:47549202 COL6A2 C>T	21	47549202	47549202	C	T	COL6A2	c.2462-2666C>T	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549202C>T	VUS	1 lab	efbab9489e
19:38995701 RYR1 G>A	19	38995701	38995701	G	A	RYR1	c.8290G>A	NM_000540.3	NP_000531.2:p.(Glu2764Lys)	NC_000019.9:g.38995701G>A	VUS	1 lab	efbac2f039
2:15432826 NBAS C>G	2	15432826	15432826	C	G	NBAS	c.4862G>C	NM_015909.4	NP_056993.2:p.(Trp1621Ser)	NC_000002.11:g.15432826C>G	VUS	1 lab	efbada7d22
15:91461948 MAN2A2 A>C	15	91461948	91461948	A	C	MAN2A2	c.3263A>C	NM_006122.4	NP_006113.2:p.(Lys1088Thr)	NC_000015.9:g.91461948A>C	VUS	1 lab	efbbb7fb71
18:46690066 DYM G>A	18	46690066	46690066	G	A	DYM	c.1717C>T	NM_001353214.3	NP_001340143.1:p.(Leu573=)	NC_000018.9:g.46690066G>A	(Likely) benign	1 lab	efbe728893
17:59533842 TBX4 C>T	17	59533842	59533842	C	T	TBX4	c.-3-7C>T	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59533842C>T	(Likely) benign	1 lab	efbf1794e1
3:136342070 STAG1 G>A	3	136342070	136342070	G	A	STAG1	c.50C>T	NM_005862.3	NP_005853.2:p.(Thr17Ile)	NC_000003.11:g.136342070G>A	(Likely) benign	1 lab	efc13fb136
11:134062764 NCAPD3 C>T	11	134062764	134062764	C	T	NCAPD3	c.1865G>A	NM_015261.3	NP_056076.1:p.(Arg622Gln)	NC_000011.9:g.134062764C>T	(Likely) benign	1 lab	efc1a6715c
13:50204493 ARL11 CCA>C	13	50204493	50204496	CCA	C	ARL11	c.-18-71_-18-70del	NM_138450.6	NP_612459.1:p.?	NC_000013.10:g.50204495_50204496del	VUS	1 lab	efc1d876d9
2:202626500 ALS2 C>T	2	202626500	202626500	C	T	ALS2	c.217G>A	NM_020919.4	NP_065970.2:p.(Gly73Arg)	NC_000002.11:g.202626500C>T	VUS	1 lab	efc52f9df9
9:139391932 NOTCH1 G>A	9	139391932	139391932	G	A	NOTCH1	c.6259C>T	NM_017617.5	NP_060087.3:p.(Arg2087Trp)	NC_000009.11:g.139391932G>A	VUS	1 lab	efc5f7bbdb
21:33740872 URB1 C>T	21	33740872	33740872	C	T	URB1	c.1037G>A	NM_014825.3	NP_055640.2:p.(Gly346Asp)	NC_000021.8:g.33740872C>T	VUS	1 lab	efc8002814
2:44023035 DYNC2LI1 G>A	2	44023035	44023035	G	A	DYNC2LI1	c.514G>A	NM_016008.4	NP_057092.2:p.(Glu172Lys)	NC_000002.11:g.44023035G>A	(Likely) benign	1 lab	efc892bb81
1:44057063 PTPRF G>A	1	44057063	44057063	G	A	PTPRF	c.1370G>A	NM_002840.5	NP_002831.2:p.(Arg457His)	NC_000001.10:g.44057063G>A	(Likely) benign	1 lab	efc8da4b23
21:38308949 HLCS T>G	21	38308949	38308949	T	G	HLCS	c.1237A>C	NM_001352514.2	NP_001339443.1:p.(Thr413Pro)	NC_000021.8:g.38308949T>G	VUS	1 lab	efc9761069
17:48272465 COL1A1 C>A	17	48272465	48272465	C	A	COL1A1	c.1300-4G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272465C>A	(Likely) benign	1 lab	efc9bf8398
19:42799295 CIC G>GC	19	42799295	42799298	G	GC	CIC	c.7509dup	NM_001386298.1	NP_001373227.1:p.(Ser2504LeufsTer19)	NC_000019.9:g.42799298dup	VUS	1 lab	efc9cd3163
X:44923077 KDM6A A>G	X	44923077	44923077	A	G	KDM6A	c.1923+15A>G	NM_021140.3	NP_066963.2:p.?	NC_000023.10:g.44923077A>G	(Likely) benign	1 lab	30cd005048
X:6451836 VCX3A C>T	X	6451836	6451836	C	T	VCX3A	c.511G>A	NM_016379.4	NP_057463.2:p.(Glu171Lys)	NC_000023.10:g.6451836C>T	(Likely) benign	1 lab	efcacf73e3
17:56293585 MKS1 T>G	17	56293585	56293585	T	G	MKS1	c.281A>C	NM_017777.4	NP_060247.2:p.(Gln94Pro)	NC_000017.10:g.56293585T>G	VUS	1 lab	efcb5d7af8
14:23851741 MYH6 A>G	14	23851741	23851741	A	G	MYH6	c.5692T>C	NM_002471.4	NP_002462.2:p.(Phe1898Leu)	NC_000014.8:g.23851741A>G	(Likely) benign	1 lab	efcb70a071
12:22005126 ABCC9 T>C	12	22005126	22005126	T	C	ABCC9	c.2674A>G	NM_020297.4	NP_064693.2:p.(Arg892Gly)	NC_000012.11:g.22005126T>C	VUS	1 lab	2e02e8f699
3:134278036 CEP63 A>G	3	134278036	134278036	A	G	CEP63	c.1718A>G	NM_001353108.3	NP_001340037.1:p.(His573Arg)	NC_000003.11:g.134278036A>G	(Likely) benign	1 lab	efd373c79f
7:21856223 DNAH11 C>T	7	21856223	21856223	C	T	DNAH11	c.10471C>T	NM_001277115.2	NP_001264044.1:p.(Arg3491Cys)	NC_000007.13:g.21856223C>T	VUS	1 lab	efd49462c0
16:30736074 SRCAP G>C	16	30736074	30736074	G	C	SRCAP	c.5329G>C	NM_006662.3	NP_006653.2:p.(Ala1777Pro)	NC_000016.9:g.30736074G>C	(Likely) benign	1 lab	efd5d23e79
5:156787283 CYFIP2 T>C	5	156787283	156787283	T	C	CYFIP2	c.2818-7T>C	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156787283T>C	VUS	1 lab	efd661de21
7:38869897 VPS41 T>C	7	38869897	38869897	T	C	VPS41	c.278A>G	NM_014396.4	NP_055211.2:p.(Asp93Gly)	NC_000007.13:g.38869897T>C	VUS	1 lab	efd79069c6
14:60194333 RTN1 T>C	14	60194333	60194333	T	C	RTN1	c.1069A>G	NM_021136.3	NP_066959.1:p.(Ile357Val)	NC_000014.8:g.60194333T>C	(Likely) benign	1 lab	efd83e9bf3
20:62120472 EEF1A2 C>A	20	62120472	62120472	C	A	EEF1A2	c.1063G>T	NM_001958.5	NP_001949.1:p.(Ala355Ser)	NC_000020.10:g.62120472C>A	VUS	1 lab	efdacc7840
9:119109468 PAPPA G>A	9	119109468	119109468	G	A	PAPPA	c.3944G>A	NM_002581.5	NP_002572.2:p.(Arg1315His)	NC_000009.11:g.119109468G>A	(Likely) benign	1 lab	efdad87087
2:219487508 PLCD4 T>G	2	219487508	219487508	T	G	PLCD4	c.679T>G	NM_032726.4	NP_116115.1:p.(Phe227Val)	NC_000002.11:g.219487508T>G	(Likely) benign	1 lab	efdb1bf25d
9:3330481 RFX3 C>T	9	3330481	3330481	C	T	RFX3	c.252G>A	NM_001282116.2	NP_001269045.1:p.(Met84Ile)	NC_000009.11:g.3330481C>T	(Likely) benign	1 lab	efdb5d4e26
6:102516358 GRIK2 G>C	6	102516358	102516358	G	C	GRIK2	c.2699G>C	NM_021956.5	NP_068775.1:p.(Arg900Thr)	NC_000006.11:g.102516358G>C	VUS	1 lab	efdc2124af
18:25543373 CDH2 G>A	18	25543373	25543373	G	A	CDH2	c.2462C>T	NM_001792.5	NP_001783.2:p.(Pro821Leu)	NC_000018.9:g.25543373G>A	VUS	1 lab	efdd4a5342
6:7583008 DSP G>A	6	7583008	7583008	G	A	DSP	c.5513G>A	NM_004415.4	NP_004406.2:p.(Arg1838His)	NC_000006.11:g.7583008G>A	VUS	1 lab	2e030476e8
1:120466610 NOTCH2 A>C	1	120466610	120466610	A	C	NOTCH2	c.4512-3T>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120466610A>C	VUS	1 lab	efdded08ec
17:79803438 P4HB G>A	17	79803438	79803438	G	A	P4HB	c.1358C>T	NM_000918.4	NP_000909.2:p.(Thr453Met)	NC_000017.10:g.79803438G>A	(Likely) benign	1 lab	efdeb7093c
2:33488382 LTBP1 C>T	2	33488382	33488382	C	T	LTBP1	c.2540C>T	NM_206943.4	NP_996826.3:p.(Pro847Leu)	NC_000002.11:g.33488382C>T	VUS	1 lab	efdecc97d5
1:160090703 ATP1A2 G>A	1	160090703	160090703	G	A	ATP1A2	c.20G>A	NM_000702.4	NP_000693.1:p.(Arg7His)	NC_000001.10:g.160090703G>A	(Likely) benign	1 lab	efdf8c8662
X:17750157 NHS C>A	X	17750157	17750157	C	A	NHS	c.4529C>A	NM_001291867.2	NP_001278796.1:p.(Ser1510Tyr)	NC_000023.10:g.17750157C>A	VUS	1 lab	efdfe9a60b
2:166866245 SCN1A C>T	2	166866245	166866245	C	T	SCN1A	c.3986G>A	NM_001165963.4	NP_001159435.1:p.(Arg1329Gln)	NC_000002.11:g.166866245C>T	(Likely) pathogenic	1 lab	efe0a14e22
X:118239010 KIAA1210 G>A	X	118239010	118239010	G	A	KIAA1210	c.593C>T	NM_001394962.1	NP_001381891.1:p.(Ser198Leu)	NC_000023.10:g.118239010G>A	(Likely) benign	1 lab	efe30ebf09
X:151818347 GABRQ G>A	X	151818347	151818347	G	A	GABRQ	c.748+5G>A	NM_018558.4	NP_061028.3:p.?	NC_000023.10:g.151818347G>A	VUS	1 lab	efe36f8ba0
1:39853710 MACF1 G>A	1	39853710	39853710	G	A	MACF1	c.15196G>A	NM_001394062.1	NP_001380991.1:p.(Val5066Ile)	NC_000001.10:g.39853710G>A	VUS	1 lab	efe6ae4e29
20:3684657 SIGLEC1 T>C	20	3684657	3684657	T	C	SIGLEC1	c.788A>G	NM_023068.4	NP_075556.1:p.(Gln263Arg)	NC_000020.10:g.3684657T>C	(Likely) benign	1 lab	efe7e359de
X:101912804 GPRASP1 AT>A	X	101912804	101912807	AT	A	GPRASP1	c.3966del	NM_001184727.2	NP_001171656.1:p.(Phe1322LeufsTer2)	NC_000023.10:g.101912807del	VUS	1 lab	efe834f62b
20:60887480 LAMA5 G>A	20	60887480	60887480	G	A	LAMA5	c.9336C>T	NM_005560.6	NP_005551.3:p.(Ser3112=)	NC_000020.10:g.60887480G>A	VUS	1 lab	efeaf963a2
1:108681740 SLC25A24 T>G	1	108681740	108681740	T	G	SLC25A24	c.1189A>C	NM_013386.5	NP_037518.3:p.(Thr397Pro)	NC_000001.10:g.108681740T>G	(Likely) benign	1 lab	2e083fc4d2
22:51159169 SHANK3 G>T	22	51159169	51159169	G	T	SHANK3	c.3133G>T	NM_001372044.2	NP_001358973.1:p.(Ala1045Ser)	NC_000022.10:g.51159169G>T	VUS	1 lab	efed2d575b
4:47667263 CORIN T>TTCC	4	47667263	47667264	T	TTCC	CORIN	c.1374_1375insGGA	NM_006587.4	NP_006578.2:p.(Ile458_Thr459insGly)	NC_000004.11:g.47667263_47667264insTCC	VUS	1 lab	eff052b6bc
16:65016096 CDH11 C>T	16	65016096	65016096	C	T	CDH11	c.1108G>A	NM_001797.4	NP_001788.2:p.(Val370Ile)	NC_000016.9:g.65016096C>T	VUS	1 lab	eff05a25d2
7:98495448 TRRAP G>A	7	98495448	98495448	G	A	TRRAP	c.592G>A	NM_001375524.1	NP_001362453.1:p.(Val198Met)	NC_000007.13:g.98495448G>A	VUS	1 lab	eff1c5d8cb
9:139403417 NOTCH1 C>T	9	139403417	139403417	C	T	NOTCH1	c.3076G>A	NM_017617.5	NP_060087.3:p.(Asp1026Asn)	NC_000009.11:g.139403417C>T	VUS	1 lab	eff1cbd297
2:179518762 TTN T>A	2	179518762	179518762	T	A	TTN	c.38441A>T	NM_001267550.2	NP_001254479.2:p.(Lys12814Ile)	NC_000002.11:g.179518762T>A	VUS	1 lab	eff24c7a20
2:48066016 FBXO11 G>C	2	48066016	48066016	G	C	FBXO11	c.569C>G	NM_001190274.2	NP_001177203.1:p.(Ala190Gly)	NC_000002.11:g.48066016G>C	VUS	1 lab	eff4c75f21
11:34979033 PDHX C>T	11	34979033	34979033	C	T	PDHX	c.445C>T	NM_003477.3	NP_003468.2:p.(Pro149Ser)	NC_000011.9:g.34979033C>T	VUS	1 lab	f0839f9c40
14:75136681 AREL1 G>C	14	75136681	75136681	G	C	AREL1	c.1757C>G	NM_001039479.2	NP_001034568.1:p.(Ala586Gly)	NC_000014.8:g.75136681G>C	VUS	1 lab	eff4d2b414
3:49373003 USP4 T>C	3	49373003	49373003	T	C	USP4	c.128A>G	NM_003363.4	NP_003354.2:p.(Lys43Arg)	NC_000003.11:g.49373003T>C	VUS	1 lab	f0dd5b8fcc
19:7267545 INSR A>ACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAG	19	7267545	7267546	A	ACATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAG	INSR	c.462_463insCTTTATCCCCGTAAATTATCTCCTGAAGATCTTCTATG	NM_000208.4	NP_000199.2:p.(Ala156TyrfsTer32)	NC_000019.9:g.7267545_7267546insCATAGAAGATCTTCAGGAGATAATTTACGGGGATAAAG	(Likely) pathogenic	1 lab	eff6443168
4:126238305 FAT4 C>T	4	126238305	126238305	C	T	FAT4				NC_000004.11:g.126238305C>T	(Likely) benign	1 lab	30cf624431
14:51210247 NIN A>G	14	51210247	51210247	A	G	NIN	c.5188T>C	NM_020921.4	NP_065972.4:p.(Leu1730=)	NC_000014.8:g.51210247A>G	(Likely) benign	1 lab	eff82cef61
10:79390731 KCNMA1 G>A	10	79390731	79390731	G	A	KCNMA1	c.378+6292C>T	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79390731G>A	(Likely) benign	1 lab	eff9d5b7e9
19:50210832 CPT1C C>T	19	50210832	50210832	C	T	CPT1C	c.1401C>T	NM_001199753.2	NP_001186682.1:p.(Ser467=)	NC_000019.9:g.50210832C>T	(Likely) benign	1 lab	effadd4474
15:99456362 IGF1R A>G	15	99456362	99456362	A	G	IGF1R	c.1679A>G	NM_000875.5	NP_000866.1:p.(Lys560Arg)	NC_000015.9:g.99456362A>G	(Likely) benign	1 lab	effb21e7d6
2:130931151 SMPD4 G>A	2	130931151	130931151	G	A	SMPD4	c.205C>T	NM_017951.5	NP_060421.3:p.(Arg69Cys)	NC_000002.11:g.130931151G>A	VUS	1 lab	effb840f28
3:186299769 DNAJB11 T>G	3	186299769	186299769	T	G	DNAJB11	c.600-15T>G	NM_016306.6	NP_057390.1:p.?	NC_000003.11:g.186299769T>G	VUS	1 lab	effccdb8a2
7:152081646 KMT2C C>T	7	152081646	152081646	C	T	KMT2C	c.162-25886G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152081646C>T	(Likely) benign	1 lab	effd7afa7c
19:16989013 SIN3B C>T	19	16989013	16989013	C	T	SIN3B	c.2974C>T	NM_001297595.2	NP_001284524.1:p.(Arg992Cys)	NC_000019.9:g.16989013C>T	VUS	1 lab	efffb1b87e
1:53676146 CPT2 C>T	1	53676146	53676146	C	T	CPT2	c.800C>T	NM_000098.3	NP_000089.1:p.(Ser267Leu)	NC_000001.10:g.53676146C>T	VUS	1 lab	2e09382b6f
4:85605229 WDFY3 T>C	4	85605229	85605229	T	C	WDFY3	c.9593A>G	NM_014991.6	NP_055806.2:p.(Asn3198Ser)	NC_000004.11:g.85605229T>C	(Likely) benign	1 lab	f001f6e8dd
1:171761292 METTL13 T>G	1	171761292	171761292	T	G	METTL13	c.1610T>G	NM_015935.5	NP_057019.3:p.(Phe537Cys)	NC_000001.10:g.171761292T>G	VUS	1 lab	f0047b1c43
4:77661550 SHROOM3 C>T	4	77661550	77661550	C	T	SHROOM3	c.2224C>T	NM_020859.4	NP_065910.3:p.(Pro742Ser)	NC_000004.11:g.77661550C>T	VUS	1 lab	f00543c2e0
3:183217542 KLHL6 G>T	3	183217542	183217542	G	T	KLHL6	c.983C>A	NM_130446.4	NP_569713.2:p.(Thr328Lys)	NC_000003.11:g.183217542G>T	(Likely) benign	1 lab	f006239137
10:119307572 EMX2 G>T	10	119307572	119307572	G	T	EMX2	c.592-4G>T	NM_004098.4	NP_004089.1:p.?	NC_000010.10:g.119307572G>T	(Likely) benign	1 lab	f00663eb9e
12:51135202 DIP2B G>A	12	51135202	51135202	G	A	DIP2B	c.4358G>A	NM_173602.3	NP_775873.2:p.(Arg1453His)	NC_000012.11:g.51135202G>A	VUS	1 lab	f006d44994
6:79707267 PHIP G>C	6	79707267	79707267	G	C	PHIP	c.2065C>G	NM_017934.7	NP_060404.4:p.(Leu689Val)	NC_000006.11:g.79707267G>C	VUS	1 lab	f008571be4
7:86817456 DMTF1 C>G	7	86817456	86817456	C	G	DMTF1	c.1250C>G	NM_001142327.2	NP_001135799.1:p.(Pro417Arg)	NC_000007.13:g.86817456C>G	(Likely) benign	1 lab	f00ae569d2
14:104056548 COA8 C>T	14	104056548	104056548	C	T	COA8	c.507C>T	NM_001370595.2	NP_001357524.1:p.(Thr169=)	NC_000014.8:g.104056548C>T	VUS	1 lab	f00cf79e97
17:26919016 SPAG5 C>G	17	26919016	26919016	C	G	SPAG5	c.1246G>C	NM_006461.4	NP_006452.3:p.(Glu416Gln)	NC_000017.10:g.26919016C>G	VUS	1 lab	f00d08beb9
2:37334440 EIF2AK2 C>G	2	37334440	37334440	C	G	EIF2AK2	c.1632G>C	NM_001135651.3	NP_001129123.1:p.(Glu544Asp)	NC_000002.11:g.37334440C>G	VUS	1 lab	f00d3f3608
12:78540174 NAV3 TAA>T	12	78540174	78540184	TAA	T	NAV3	c.4707+11_4707+12del	NM_001024383.2	NP_001019554.1:p.?	NC_000012.11:g.78540183_78540184del	VUS	1 lab	f00d5fdeab
11:125864767 CDON G>A	11	125864767	125864767	G	A	CDON	c.2543C>T	NM_001378964.1	NP_001365893.1:p.(Thr848Met)	NC_000011.9:g.125864767G>A	VUS	1 lab	f00db75102
14:24775626 CIDEB G>A	14	24775626	24775626	G	A	CIDEB	c.290C>T	NM_001393339.1	NP_001380268.1:p.(Thr97Met)	NC_000014.8:g.24775626G>A	VUS	1 lab	f00db81004
10:90974592 LIPA T>C	10	90974592	90974592	T	C	LIPA	c.1193A>G	NM_000235.4	NP_000226.2:p.(Tyr398Cys)	NC_000010.10:g.90974592T>C	VUS	1 lab	f00e6df957
9:140128588 SLC34A3 T>C	9	140128588	140128588	T	C	SLC34A3	c.953T>C	NM_001177316.2	NP_001170787.2:p.(Leu318Pro)	NC_000009.11:g.140128588T>C	VUS	1 lab	f01265985b
22:40045868 CACNA1I C>T	22	40045868	40045868	C	T	CACNA1I	c.1930C>T	NM_021096.4	NP_066919.2:p.(Arg644Trp)	NC_000022.10:g.40045868C>T	VUS	1 lab	f0156e3047
X:107018465 TSC22D3 G>A	X	107018465	107018465	G	A	TSC22D3	c.185C>T	NM_198057.3	NP_932174.1:p.(Thr62Ile)	NC_000023.10:g.107018465G>A	VUS	1 lab	f016f105d3
18:2763651 SMCHD1 A>G	18	2763651	2763651	A	G	SMCHD1	c.4583A>G	NM_015295.3	NP_056110.2:p.(His1528Arg)	NC_000018.9:g.2763651A>G	VUS	1 lab	f0173e8cf9
13:32913878 BRCA2 G>C	13	32913878	32913878	G	C	BRCA2	c.5386G>C	NM_000059.4	NP_000050.3:p.(Asp1796His)	NC_000013.10:g.32913878G>C	VUS	1 lab	f01862da3f
19:1469819 APC2 G>C	19	1469819	1469819	G	C	APC2	c.6519G>C	NM_005883.3	NP_005874.1:p.(Thr2173=)	NC_000019.9:g.1469819G>C	(Likely) benign	1 lab	f0190b6baf
18:19371419 MIB1 G>A	18	19371419	19371419	G	A	MIB1	c.993G>A	NM_020774.3	NP_065825.1:p.(Ser331=)	NC_000018.9:g.19371419G>A	(Likely) benign	1 lab	30d30a8129
22:38544629 PLA2G6 G>A	22	38544629	38544629	G	A	PLA2G6	c.210-2969C>T	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38544629G>A	VUS	1 lab	f01a3db719
9:446434 DOCK8 C>A	9	446434	446434	C	A	DOCK8	c.5645C>A	NM_203447.4	NP_982272.2:p.(Thr1882Lys)	NC_000009.11:g.446434C>A	VUS	1 lab	f01aa95ea5
7:134133828 AKR1B1 C>A	7	134133828	134133828	C	A	AKR1B1	c.473G>T	NM_001628.4	NP_001619.1:p.(Gly158Val)	NC_000007.13:g.134133828C>A	VUS	1 lab	f01b21d9b8
17:29320881 RNF135 T>A	17	29320881	29320881	T	A	RNF135	c.680-3379T>A	NM_032322.4	NP_115698.3:p.?	NC_000017.10:g.29320881T>A	(Likely) benign	1 lab	f01bf55801
12:48369267 COL2A1 C>T	12	48369267	48369267	C	T	COL2A1	c.3719G>A	NM_001844.5	NP_001835.3:p.(Arg1240Gln)	NC_000012.11:g.48369267C>T	(Likely) benign	1 lab	f01e02c7e5
15:89399681 ACAN G>A	15	89399681	89399681	G	A	ACAN	c.3865G>A	NM_001369268.1	NP_001356197.1:p.(Ala1289Thr)	NC_000015.9:g.89399681G>A	(Likely) benign	1 lab	f01ed8d45a
22:18655999 USP18 A>G	22	18655999	18655999	A	G	USP18	c.974A>G	NM_017414.4	NP_059110.2:p.(Asn325Ser)	NC_000022.10:g.18655999A>G	(Likely) benign	1 lab	f01ff4df46
9:14307203 NFIB C>A	9	14307203	14307203	C	A	NFIB	c.347G>T	NM_001190737.2	NP_001177666.1:p.(Arg116Met)	NC_000009.11:g.14307203C>A	VUS	1 lab	2e0b194c8c
1:155205002 GBA1 C>T	1	155205002	155205002	C	T	GBA1	c.1489G>A	NM_000157.4	NP_000148.2:p.(Val497Met)	NC_000001.10:g.155205002C>T	VUS	1 lab	f022299778
16:57787133 KATNB1 C>T	16	57787133	57787133	C	T	KATNB1	c.1000C>T	NM_005886.3	NP_005877.2:p.(Arg334Trp)	NC_000016.9:g.57787133C>T	VUS	1 lab	f022655f19
21:33066562 SCAF4 C>T	21	33066562	33066562	C	T	SCAF4	c.1277G>A	NM_020706.2	NP_065757.1:p.(Arg426Gln)	NC_000021.8:g.33066562C>T	VUS	1 lab	f0243f9882
7:1538116 INTS1 C>A	7	1538116	1538116	C	A	INTS1	c.1357G>T	NM_001080453.3	NP_001073922.2:p.(Ala453Ser)	NC_000007.13:g.1538116C>A	VUS	1 lab	f0250a0b44
X:15607586 ACE2 G>T	X	15607586	15607586	G	T	ACE2	c.584-7C>A	NM_001371415.1	NP_001358344.1:p.?	NC_000023.10:g.15607586G>T	VUS	1 lab	f028a5ff91
2:204822619 ICOS T>C	2	204822619	204822619	T	C	ICOS	c.586+13T>C	NM_012092.3	NP_036224.1:p.?	NC_000002.11:g.204822619T>C	(Likely) benign	1 lab	30d61ad5a0
21:47817956 PCNT G>A	21	47817956	47817956	G	A	PCNT	c.4475G>A	NM_006031.6	NP_006022.3:p.(Arg1492His)	NC_000021.8:g.47817956G>A	VUS	1 lab	f02cb425c5
12:122292663 HPD C>A	12	122292663	122292663	C	A	HPD	c.360G>T	NM_002150.3	NP_002141.2:p.(Glu120Asp)	NC_000012.11:g.122292663C>A	(Likely) benign	1 lab	f0314eef2f
10:97447122 TCTN3 A>G	10	97447122	97447122	A	G	TCTN3	c.628-10T>C	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97447122A>G	VUS	1 lab	f0319ae660
21:34925742 SON A>G	21	34925742	34925742	A	G	SON	c.4205A>G	NM_138927.2	NP_620305.2:p.(Tyr1402Cys)	NC_000021.8:g.34925742A>G	(Likely) benign	1 lab	30d7a4e77c
16:17564500 XYLT1 C>T	16	17564500	17564500	C	T	XYLT1	c.154G>A	NM_022166.4	NP_071449.1:p.(Gly52Ser)	NC_000016.9:g.17564500C>T	(Likely) benign	1 lab	f033137fa5
9:35744673 GBA2 A>C	9	35744673	35744673	A	C	GBA2	c.390T>G	NM_020944.3	NP_065995.1:p.(His130Gln)	NC_000009.11:g.35744673A>C	(Likely) benign	1 lab	f033743a66
3:130903576 NEK11 A>G	3	130903576	130903576	A	G	NEK11	c.1399+13845A>G	NM_024800.5	NP_079076.3:p.?	NC_000003.11:g.130903576A>G	(Likely) benign	1 lab	f03402ff95
11:118922560 HYOU1 C>A	11	118922560	118922560	C	A	HYOU1	c.1309G>T	NM_006389.5	NP_006380.1:p.(Val437Phe)	NC_000011.9:g.118922560C>A	VUS	1 lab	f0349c00ff
14:21871309 CHD8 C>T	14	21871309	21871309	C	T	CHD8	c.3581G>A	NM_001170629.2	NP_001164100.1:p.(Arg1194His)	NC_000014.8:g.21871309C>T	VUS	1 lab	f0375cb430
16:72057408 DHODH A>T	16	72057408	72057408	A	T	DHODH	c.1009A>T	NM_001361.5	NP_001352.2:p.(Ser337Cys)	NC_000016.9:g.72057408A>T	VUS	1 lab	f03809c13d
15:99482462 IGF1R C>T	15	99482462	99482462	C	T	IGF1R	c.3330C>T	NM_000875.5	NP_000866.1:p.(Ser1110=)	NC_000015.9:g.99482462C>T	VUS	1 lab	f03a02b7e2
8:121215991 COL14A1 T>C	8	121215991	121215991	T	C	COL14A1	c.921T>C	NM_021110.4	NP_066933.1:p.(Ser307=)	NC_000008.10:g.121215991T>C	(Likely) benign	1 lab	2e0c9d63ae
11:68216333 LRP5 G>T	11	68216333	68216333	G	T	LRP5	c.4643G>T	NM_002335.4	NP_002326.2:p.(Cys1548Phe)	NC_000011.9:g.68216333G>T	VUS	1 lab	f03a4982c7
9:135946573 CEL C>T	9	135946573	135946573	C	T	CEL	c.1684C>T	NM_001807.6	NP_001798.3:p.(Pro562Ser)	NC_000009.11:g.135946573C>T	(Likely) benign	1 lab	f03bf9f5c2
4:103644075 MANBA G>A	4	103644075	103644075	G	A	MANBA	c.502C>T	NM_005908.4	NP_005899.3:p.(Pro168Ser)	NC_000004.11:g.103644075G>A	(Likely) benign	1 lab	f03dc09190
1:178821914 ANGPTL1 G>T	1	178821914	178821914	G	T	ANGPTL1	c.1192C>A	NM_004673.4	NP_004664.1:p.(Arg398Ser)	NC_000001.10:g.178821914G>T	VUS	1 lab	f03eb88381
19:1455474 APC2 C>A	19	1455474	1455474	C	A	APC2	c.614C>A	NM_005883.3	NP_005874.1:p.(Ser205Ter)	NC_000019.9:g.1455474C>A	VUS	1 lab	f03ee25146
19:14076269 RFX1 G>A	19	14076269	14076269	G	A	RFX1	c.2203C>T	NM_002918.5	NP_002909.4:p.(Arg735Trp)	NC_000019.9:g.14076269G>A	VUS	1 lab	f03f4b285d
5:38921722 OSMR G>A	5	38921722	38921722	G	A	OSMR	c.1591G>A	NM_003999.3	NP_003990.1:p.(Val531Ile)	NC_000005.9:g.38921722G>A	(Likely) benign	1 lab	30d7b1d764
15:99491936 IGF1R C>T	15	99491936	99491936	C	T	IGF1R	c.3721C>T	NM_000875.5	NP_000866.1:p.(Leu1241=)	NC_000015.9:g.99491936C>T	VUS	1 lab	f04883cd03
2:179516683 TTN G>T	2	179516683	179516683	G	T	TTN	c.39307C>A	NM_001267550.2	NP_001254479.2:p.(Pro13103Thr)	NC_000002.11:g.179516683G>T	VUS	1 lab	f04991e82d
17:56770125 RAD51C G>A	17	56770125	56770125	G	A	RAD51C	c.121G>A	NM_058216.3	NP_478123.1:p.(Val41Met)	NC_000017.10:g.56770125G>A	VUS	1 lab	f04a570882
1:16376420 CLCNKB C>T	1	16376420	16376420	C	T	CLCNKB	c.968+9C>T	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16376420C>T	(Likely) benign	1 lab	f04a6dca6f
16:83949084 MLYCD G>T	16	83949084	83949084	G	T	MLYCD	c.1472G>T	NM_012213.3	NP_036345.2:p.(Ser491Ile)	NC_000016.9:g.83949084G>T	VUS	1 lab	f04af4c21b
16:2149857 PKD1 C>T	16	2149857	2149857	C	T	PKD1	c.9923+5G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2149857C>T	(Likely) benign	1 lab	f04b9ff84f
X:7812047 VCX C>T	X	7812047	7812047	C	T	VCX	c.611C>T	NM_001393662.1	NP_001380591.1:p.(Pro204Leu)	NC_000023.10:g.7812047C>T	VUS	1 lab	f04c99cf9e
9:140051128 GRIN1 G>C	9	140051128	140051128	G	C	GRIN1	c.679G>C	NM_007327.4	NP_015566.1:p.(Asp227His)	NC_000009.11:g.140051128G>C	VUS	1 lab	f04d2d713e
10:89487224 PAPSS2 G>C	10	89487224	89487224	G	C	PAPSS2	c.1064G>C	NM_001015880.2	NP_001015880.1:p.(Cys355Ser)	NC_000010.10:g.89487224G>C	VUS	1 lab	f0525de099
17:39740534 KRT14 G>T	17	39740534	39740534	G	T	KRT14	c.740C>A	NM_000526.5	NP_000517.3:p.(Ala247Asp)	NC_000017.10:g.39740534G>T	VUS	1 lab	f052f43c7c
7:43680257 COA1 G>T	7	43680257	43680257	G	T	COA1	c.265-9C>A	NM_018224.4	NP_060694.2:p.?	NC_000007.13:g.43680257G>T	(Likely) benign	1 lab	f054cd56e3
14:74754949 ABCD4 G>T	14	74754949	74754949	G	T	ABCD4	c.1520C>A	NM_005050.4	NP_005041.1:p.(Ala507Glu)	NC_000014.8:g.74754949G>T	VUS	1 lab	f055b12f5f
10:101486911 COX15 G>C	10	101486911	101486911	G	C	COX15	c.396C>G	NM_078470.6	NP_510870.1:p.(Ile132Met)	NC_000010.10:g.101486911G>C	VUS	1 lab	f056dd06bf
1:207930452 CD46 G>A	1	207930452	207930452	G	A	CD46	c.191G>A	NM_172351.3	NP_758861.1:p.(Cys64Tyr)	NC_000001.10:g.207930452G>A	VUS	1 lab	f057741a19
13:33629220 KL C>T	13	33629220	33629220	C	T	KL	c.1367C>T	NM_004795.4	NP_004786.2:p.(Thr456Ile)	NC_000013.10:g.33629220C>T	VUS	1 lab	f0591c8916
7:44191969 GCK C>T	7	44191969	44191969	C	T	GCK	c.264G>A	NM_000162.5	NP_000153.1:p.(Leu88=)	NC_000007.13:g.44191969C>T	(Likely) benign	1 lab	f059821b60
3:154862238 MME G>T	3	154862238	154862238	G	T	MME	c.1408G>T	NM_007289.4	NP_009220.2:p.(Glu470Ter)	NC_000003.11:g.154862238G>T	VUS	1 lab	f05b8bd668
15:99478614 IGF1R G>A	15	99478614	99478614	G	A	IGF1R	c.3256G>A	NM_000875.5	NP_000866.1:p.(Asp1086Asn)	NC_000015.9:g.99478614G>A	VUS	1 lab	f05c1275b8
11:17436861 ABCC8 A>T	11	17436861	17436861	A	T	ABCC8	c.2281T>A	NM_000352.6	NP_000343.2:p.(Leu761Met)	NC_000011.9:g.17436861A>T	(Likely) benign	1 lab	f05c281b27
10:12126608 DHTKD1 G>A	10	12126608	12126608	G	A	DHTKD1	c.380G>A	NM_018706.7	NP_061176.4:p.(Cys127Tyr)	NC_000010.10:g.12126608G>A	VUS	1 lab	f05d05ea54
15:101432844 ALDH1A3 G>C	15	101432844	101432844	G	C	ALDH1A3	c.475G>C	NM_000693.4	NP_000684.2:p.(Asp159His)	NC_000015.9:g.101432844G>C	(Likely) pathogenic	1 lab	2e0d197860
2:220435386 OBSL1 G>C	2	220435386	220435386	G	C	OBSL1	c.569C>G	NM_015311.3	NP_056126.1:p.(Ala190Gly)	NC_000002.11:g.220435386G>C	(Likely) benign	1 lab	f05e381bc2
17:3374972 SPATA22 GCA>G	17	3374972	3374976	GCA	G	SPATA22	c.-74+2_-74+3del	NM_001170698.2	NP_001164169.1:p.?	NC_000017.10:g.3374975_3374976del	(Likely) benign	1 lab	f05e53b166
19:1483394 PCSK4 C>A	19	1483394	1483394	C	A	PCSK4	c.1460G>T	NM_017573.5	NP_060043.2:p.(Arg487Leu)	NC_000019.9:g.1483394C>A	(Likely) benign	1 lab	f05e89b539
17:76446476 DNAH17 C>T	17	76446476	76446476	C	T	DNAH17	c.10900G>A	NM_173628.4	NP_775899.3:p.(Val3634Met)	NC_000017.10:g.76446476C>T	VUS	1 lab	f06020001e
2:20131131 WDR35 G>A	2	20131131	20131131	G	A	WDR35	c.2863C>T	NM_020779.4	NP_065830.2:p.(Arg955Cys)	NC_000002.11:g.20131131G>A	VUS	1 lab	f06236f47c
10:27512175 ACBD5 C>T	10	27512175	27512175	C	T	ACBD5	c.490+92G>A	NM_145698.5	NP_663736.2:p.?	NC_000010.10:g.27512175C>T	(Likely) benign	1 lab	f063f632aa
2:233392995 CHRND G>C	2	233392995	233392995	G	C	CHRND	c.267G>C	NM_000751.3	NP_000742.1:p.(Lys89Asn)	NC_000002.11:g.233392995G>C	(Likely) benign	1 lab	f064b63ed9
13:25672135 PABPC3 C>A	13	25672135	25672135	C	A	PABPC3	c.1799C>A	NM_030979.3	NP_112241.2:p.(Ser600Tyr)	NC_000013.10:g.25672135C>A	VUS	1 lab	f0653e6f20
8:145001874 PLEC G>A	8	145001874	145001874	G	A	PLEC	c.3460C>T	NM_201384.3	NP_958786.1:p.(Arg1154Trp)	NC_000008.10:g.145001874G>A	VUS	1 lab	f06671495f
18:3452135 TGIF1 C>T	18	3452135	3452135	C	T	TGIF1	c.16+1632C>T	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3452135C>T	(Likely) benign	1 lab	f0693244b1
2:233405431 CHRNG G>C	2	233405431	233405431	G	C	CHRNG	c.350+10G>C	NM_005199.5	NP_005190.4:p.?	NC_000002.11:g.233405431G>C	(Likely) benign	1 lab	f06d97d398
16:30750848 SRCAP C>G	16	30750848	30750848	C	G	SRCAP	c.9487C>G	NM_006662.3	NP_006653.2:p.(Leu3163Val)	NC_000016.9:g.30750848C>G	(Likely) benign	1 lab	f06f93f3cc
X:109694813 RTL9 C>T	X	109694813	109694813	C	T	RTL9	c.968C>T	NM_001385449.1	NP_001372378.1:p.(Pro323Leu)	NC_000023.10:g.109694813C>T	(Likely) benign	1 lab	f07148dcb7
9:140120390 CYSRT1 C>T	9	140120390	140120390	C	T	CYSRT1	c.317C>T	NM_199001.5	NP_945352.4:p.(Pro106Leu)	NC_000009.11:g.140120390C>T	VUS	1 lab	f07165a200
21:27254092 APP A>G	21	27254092	27254092	A	G	APP	c.2212-10T>C	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27254092A>G	(Likely) benign	1 lab	f0737218a0
4:140299906 NAA15 A>G	4	140299906	140299906	A	G	NAA15	c.2057-4A>G	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140299906A>G	(Likely) benign	1 lab	2e128e2434
7:72883915 BAZ1B A>G	7	72883915	72883915	A	G	BAZ1B	c.2798T>C	NM_032408.4	NP_115784.1:p.(Ile933Thr)	NC_000007.13:g.72883915A>G	VUS	1 lab	f073a11209
19:7184341 INSR C>T	19	7184341	7184341	C	T	INSR	c.960G>A	NM_000208.4	NP_000199.2:p.(Thr320=)	NC_000019.9:g.7184341C>T	(Likely) benign	1 lab	f076748777
18:31251744 ASXL3 C>T	18	31251744	31251744	C	T	ASXL3	c.629C>T	NM_030632.3	NP_085135.1:p.(Ser210Leu)	NC_000018.9:g.31251744C>T	VUS	1 lab	f07701d8ff
15:91491920 UNC45A G>C	15	91491920	91491920	G	C	UNC45A	c.1774G>C	NM_018671.5	NP_061141.2:p.(Ala592Pro)	NC_000015.9:g.91491920G>C	VUS	1 lab	f0780b3104
13:32906689 BRCA2 G>T	13	32906689	32906689	G	T	BRCA2	c.1074G>T	NM_000059.4	NP_000050.3:p.(Val358=)	NC_000013.10:g.32906689G>T	(Likely) benign	1 lab	f0787bcfe1
13:46060676 COG3 A>G	13	46060676	46060676	A	G	COG3	c.890A>G	NM_031431.4	NP_113619.3:p.(Tyr297Cys)	NC_000013.10:g.46060676A>G	VUS	1 lab	f07be274ee
5:94858981 SKIC3 C>T	5	94858981	94858981	C	T	SKIC3	c.1682G>A	NM_014639.4	NP_055454.1:p.(Gly561Glu)	NC_000005.9:g.94858981C>T	VUS	1 lab	f07c812827
19:7166219 INSR G>A	19	7166219	7166219	G	A	INSR	c.1807C>T	NM_000208.4	NP_000199.2:p.(Arg603Cys)	NC_000019.9:g.7166219G>A	VUS	1 lab	f07d89a78b
19:52618680 ZNF616 G>C	19	52618680	52618680	G	C	ZNF616	c.1737C>G	NM_178523.5	NP_848618.2:p.(Cys579Trp)	NC_000019.9:g.52618680G>C	VUS	1 lab	f07e81aa74
5:82785938 VCAN C>T	5	82785938	82785938	C	T	VCAN	c.92C>T	NM_004385.5	NP_004376.2:p.(Pro31Leu)	NC_000005.9:g.82785938C>T	(Likely) benign	1 lab	d9a6b010c7
1:118045528 MAN1A2 G>GT	1	118045528	118045529	G	GT	MAN1A2	c.1730dup	NM_006699.5	NP_006690.1:p.(Tyr578IlefsTer8)	NC_000001.10:g.118045529dup	VUS	1 lab	f0804133f0
2:152573980 NEB C>T	2	152573980	152573980	C	T	NEB	c.772G>A	NM_001164508.2	NP_001157980.2:p.(Asp258Asn)	NC_000002.11:g.152573980C>T	VUS	1 lab	f080c4ec4e
2:47693887 MSH2 G>A	2	47693887	47693887	G	A	MSH2	c.1601G>A	NM_000251.3	NP_000242.1:p.(Arg534His)	NC_000002.11:g.47693887G>A	VUS	1 lab	f0818f2d3c
7:150655487 KCNH2 C>CCCCGGGGCG	7	150655487	150655500	C	CCCCGGGGCG	KCNH2	c.567_575dup	NM_000238.3	NP_000229.1:p.(Pro191_Ala193dup)	NC_000007.13:g.150655492_150655500dup	VUS	1 lab	30d9f84a34
11:95546137 CEP57 C>T	11	95546137	95546137	C	T	CEP57	c.244C>T	NM_014679.5	NP_055494.2:p.(Arg82Cys)	NC_000011.9:g.95546137C>T	VUS	1 lab	f084f5ee40
3:42727135 KLHL40 G>T	3	42727135	42727135	G	T	KLHL40	c.25G>T	NM_152393.4	NP_689606.2:p.(Glu9Ter)	NC_000003.11:g.42727135G>T	VUS	1 lab	f085e48738
16:1569871 IFT140 C>T	16	1569871	1569871	C	T	IFT140	c.4040+11G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1569871C>T	(Likely) benign	1 lab	f087e8ea26
1:75037708 ERICH3 G>A	1	75037708	75037708	G	A	ERICH3	c.3686C>T	NM_001002912.5	NP_001002912.4:p.(Ala1229Val)	NC_000001.10:g.75037708G>A	(Likely) benign	1 lab	f08a558ea7
10:112557387 RBM20 T>C	10	112557387	112557387	T	C	RBM20	c.1649T>C	NM_001134363.3	NP_001127835.2:p.(Leu550Pro)	NC_000010.10:g.112557387T>C	VUS	1 lab	f08bfd759f
13:20660014 ZMYM2 T>C	13	20660014	20660014	T	C	ZMYM2	c.3994T>C	NM_197968.4	NP_932072.1:p.(Ser1332Pro)	NC_000013.10:g.20660014T>C	(Likely) benign	1 lab	f08db75ec5
18:61305290 SERPINB4 CAT>C	18	61305290	61305292	CAT	C	SERPINB4	c.834_835del	NM_002974.4	NP_002965.1:p.(Val280ArgfsTer14)	NC_000018.9:g.61305291_61305292del	VUS	1 lab	f08dc44d35
9:98231178 PTCH1 G>C	9	98231178	98231178	G	C	PTCH1	c.2105C>G	NM_000264.5	NP_000255.2:p.(Pro702Arg)	NC_000009.11:g.98231178G>C	(Likely) benign	1 lab	f0909ffce6
2:197705954 PGAP1 AATCTTAC>A	2	197705954	197705963	AATCTTAC	A	PGAP1	c.2766_*3del	NM_024989.4	NP_079265.2:p.(Met922IlefsTer6)	NC_000002.11:g.197705957_197705963del	(Likely) pathogenic	1 lab	f0911255aa
20:6065729 FERMT1 C>T	20	6065729	6065729	C	T	FERMT1	c.1577G>A	NM_017671.5	NP_060141.3:p.(Arg526Lys)	NC_000020.10:g.6065729C>T	(Likely) benign	1 lab	d9a747d20e
2:33525649 LTBP1 G>T	2	33525649	33525649	G	T	LTBP1	c.3358+9G>T	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33525649G>T	VUS	1 lab	f097af9d95
3:4854834 ITPR1 G>A	3	4854834	4854834	G	A	ITPR1	c.7477G>A	NM_001378452.1	NP_001365381.1:p.(Glu2493Lys)	NC_000003.11:g.4854834G>A	VUS	1 lab	f098201019
6:160230107 PNLDC1 C>T	6	160230107	160230107	C	T	PNLDC1	c.700C>T	NM_001271862.2	NP_001258791.1:p.(Arg234Ter)	NC_000006.11:g.160230107C>T	VUS	1 lab	f098c719fd
20:6064817 FERMT1 C>T	20	6064817	6064817	C	T	FERMT1	c.1594-6G>A	NM_017671.5	NP_060141.3:p.?	NC_000020.10:g.6064817C>T	(Likely) benign	1 lab	30dc2675a4
16:4845987 SMIM22 T>C	16	4845987	4845987	T	C	SMIM22	c.163T>C	NM_001253794.2	NP_001240723.1:p.(Cys55Arg)	NC_000016.9:g.4845987T>C	VUS	1 lab	f099a921d0
5:90149246 ADGRV1 G>T	5	90149246	90149246	G	T	ADGRV1	c.17350G>T	NM_032119.4	NP_115495.3:p.(Glu5784Ter)	NC_000005.9:g.90149246G>T	(Likely) pathogenic	1 lab	f09b22db53
4:153332496 FBXW7 C>T	4	153332496	153332496	C	T	FBXW7	c.460G>A	NM_001349798.2	NP_001336727.1:p.(Val154Ile)	NC_000004.11:g.153332496C>T	(Likely) benign	1 lab	f09c08a2f3
4:114213584 ANK2 C>T	4	114213584	114213584	C	T	ANK2	c.2290C>T	NM_001148.6	NP_001139.3:p.(Pro764Ser)	NC_000004.11:g.114213584C>T	VUS	1 lab	f09f68e6e8
X:153221701 HCFC1 C>T	X	153221701	153221701	C	T	HCFC1	c.2797G>A	NM_005334.3	NP_005325.2:p.(Ala933Thr)	NC_000023.10:g.153221701C>T	VUS	1 lab	f09fead5d9
11:118362644 KMT2A G>A	11	118362644	118362644	G	A	KMT2A	c.5004+1G>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118362644G>A	(Likely) pathogenic	1 lab	f0a251f254
14:75516233 MLH3 A>C	14	75516233	75516233	A	C	MLH3	c.126T>G	NM_001040108.2	NP_001035197.1:p.(Ala42=)	NC_000014.8:g.75516233A>C	VUS	1 lab	f0a36a5968
11:99715626 CNTN5 ATAT>A	11	99715626	99715633	ATAT	A	CNTN5	c.325_327del	NM_014361.4	NP_055176.1:p.(Ile109del)	NC_000011.9:g.99715631_99715633del	VUS	1 lab	f0a4ff0cfa
12:4609378 FERRY3 T>C	12	4609378	4609378	T	C	FERRY3	c.1366A>G	NM_020374.4	NP_065107.1:p.(Ile456Val)	NC_000012.11:g.4609378T>C	(Likely) benign	1 lab	f0a59132ea
7:107836274 NRCAM T>C	7	107836274	107836274	T	C	NRCAM	c.1394A>G	NM_001037132.4	NP_001032209.1:p.(Gln465Arg)	NC_000007.13:g.107836274T>C	VUS	1 lab	f0a8e05317
7:44185127 GCK C>T	7	44185127	44185127	C	T	GCK	c.1222G>A	NM_000162.5	NP_000153.1:p.(Val408Met)	NC_000007.13:g.44185127C>T	(Likely) pathogenic	1 lab	f0a91be054
6:170594334 DLL1 C>T	6	170594334	170594334	C	T	DLL1	c.1032+8G>A	NM_005618.4	NP_005609.3:p.?	NC_000006.11:g.170594334C>T	(Likely) benign	1 lab	f0aa45410b
7:158705761 DYNC2I1 C>T	7	158705761	158705761	C	T	DYNC2I1	c.1676C>T	NM_018051.5	NP_060521.4:p.(Pro559Leu)	NC_000007.13:g.158705761C>T	VUS	1 lab	f0ac5627fc
16:55519612 MMP2 G>A	16	55519612	55519612	G	A	MMP2	c.755G>A	NM_004530.6	NP_004521.1:p.(Arg252His)	NC_000016.9:g.55519612G>A	VUS	1 lab	f11242acb0
16:67693790 ACD G>GC	16	67693790	67693791	G	GC	ACD	c.242+15dup	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67693791dup	(Likely) benign	1 lab	30df0e6991
17:59477728 TBX2 C>T	17	59477728	59477728	C	T	TBX2	c.191C>T	NM_005994.4	NP_005985.3:p.(Ala64Val)	NC_000017.10:g.59477728C>T	VUS	1 lab	f0ae794611
17:8381651 MYH10 C>A	17	8381651	8381651	C	A	MYH10	c.5706+5G>T	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8381651C>A	(Likely) benign	1 lab	f0ae81686e
16:336866 PDIA2 A>G	16	336866	336866	A	G	PDIA2	c.1454A>G	NM_006849.4	NP_006840.2:p.(Glu485Gly)	NC_000016.9:g.336866A>G	VUS	1 lab	f0af698041
15:34151901 RYR3 C>T	15	34151901	34151901	C	T	RYR3	c.14268C>T	NM_001036.6	NP_001027.3:p.(Phe4756=)	NC_000015.9:g.34151901C>T	(Likely) benign	1 lab	f0b019982e
2:215928780 ABCA12 T>G	2	215928780	215928780	T	G	ABCA12	c.317+9A>C	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215928780T>G	(Likely) benign	1 lab	f0b2546b50
16:89350484 ANKRD11 C>G	16	89350484	89350484	C	G	ANKRD11	c.2466G>C	NM_013275.6	NP_037407.4:p.(Gln822His)	NC_000016.9:g.89350484C>G	(Likely) benign	1 lab	f0b4fd899e
11:113235613 TTC12 G>A	11	113235613	113235613	G	A	TTC12	c.1873G>A	NM_017868.4	NP_060338.3:p.(Ala625Thr)	NC_000011.9:g.113235613G>A	VUS	1 lab	f0b6a88ae6
18:19371481 MIB1 A>G	18	19371481	19371481	A	G	MIB1	c.1055A>G	NM_020774.4	NP_065825.1:p.(Gln352Arg)	NC_000018.9:g.19371481A>G	VUS	1 lab	f0b73dcd97
3:48508805 TREX1 A>G	3	48508805	48508805	A	G	TREX1	c.751A>G	NM_033629.6	NP_338599.1:p.(Thr251Ala)	NC_000003.11:g.48508805A>G	(Likely) benign	1 lab	f0b74b2acc
6:51483962 PKHD1 G>A	6	51483962	51483962	G	A	PKHD1	c.12142C>T	NM_138694.4	NP_619639.3:p.(Gln4048Ter)	NC_000006.11:g.51483962G>A	(Likely) pathogenic	1 lab	f0b76f897c
2:166242957 SCN2A G>A	2	166242957	166242957	G	A	SCN2A	c.4552-299G>A	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166242957G>A	(Likely) benign	1 lab	f0ba104cf5
4:1895939 NSD2 C>T	4	1895939	1895939	C	T	NSD2	c.-29-6414C>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1895939C>T	(Likely) benign	1 lab	f0baca07e3
19:10251459 DNMT1 G>A	19	10251459	10251459	G	A	DNMT1	c.3521C>T	NM_001130823.3	NP_001124295.1:p.(Ala1174Val)	NC_000019.9:g.10251459G>A	VUS	1 lab	f0bcfcb71d
10:61831926 ANK3 G>A	10	61831926	61831926	G	A	ANK3	c.8713C>T	NM_020987.5	NP_066267.2:p.(Arg2905Cys)	NC_000010.10:g.61831926G>A	VUS	1 lab	f0bea66b25
2:179441725 TTN G>A	2	179441725	179441725	G	A	TTN	c.69337C>T	NM_001267550.2	NP_001254479.2:p.(Arg23113Trp)	NC_000002.11:g.179441725G>A	VUS	1 lab	f0bf679962
15:75659871 MAN2C1 C>T	15	75659871	75659871	C	T	MAN2C1	c.332G>A	NM_006715.4	NP_006706.2:p.(Arg111His)	NC_000015.9:g.75659871C>T	(Likely) benign	1 lab	f0c083af62
1:149898292 SF3B4 A>G	1	149898292	149898292	A	G	SF3B4	c.682T>C	NM_005850.5	NP_005841.1:p.(Leu228=)	NC_000001.10:g.149898292A>G	(Likely) benign	1 lab	f0c097b97a
10:121436489 BAG3 G>A	10	121436489	121436489	G	A	BAG3	c.1423G>A	NM_004281.4	NP_004272.2:p.(Asp475Asn)	NC_000010.10:g.121436489G>A	(Likely) benign	1 lab	f0c0f26565
5:78426773 BHMT G>A	5	78426773	78426773	G	A	BHMT	c.1055G>A	NM_001713.3	NP_001704.2:p.(Trp352Ter)	NC_000005.9:g.78426773G>A	VUS	1 lab	f0c373919f
18:11862415 GNAL C>T	18	11862415	11862415	C	T	GNAL	c.744C>T	NM_182978.4	NP_892023.1:p.(Ser248=)	NC_000018.9:g.11862415C>T	(Likely) benign	1 lab	2e167783fd
8:144887353 SCRIB G>A	8	144887353	144887353	G	A	SCRIB	c.2599C>T	NM_182706.5	NP_874365.3:p.(Arg867Cys)	NC_000008.10:g.144887353G>A	(Likely) benign	1 lab	f0c4afd3da
17:7753447 KDM6B C>T	17	7753447	7753447	C	T	KDM6B	c.3625C>T	NM_001348716.2	NP_001335645.1:p.(Arg1209Ter)	NC_000017.10:g.7753447C>T	VUS	1 lab	f0c529deae
2:179647727 TTN T>C	2	179647727	179647727	T	C	TTN	c.2906A>G	NM_001267550.2	NP_001254479.2:p.(Tyr969Cys)	NC_000002.11:g.179647727T>C	VUS	1 lab	f0c5365b0f
11:125769988 HYLS1 G>A	11	125769988	125769988	G	A	HYLS1	c.725G>A	NM_001134793.2	NP_001128265.1:p.(Arg242Gln)	NC_000011.9:g.125769988G>A	VUS	1 lab	f0c6326129
16:3708170 TRAP1 C>T	16	3708170	3708170	C	T	TRAP1	c.2075G>A	NM_016292.3	NP_057376.2:p.(Arg692His)	NC_000016.9:g.3708170C>T	(Likely) benign	1 lab	f0c764cf73
10:61828511 ANK3 C>T	10	61828511	61828511	C	T	ANK3	c.12128G>A	NM_020987.5	NP_066267.2:p.(Arg4043Gln)	NC_000010.10:g.61828511C>T	(Likely) benign	1 lab	f0c79bbfb4
4:1369884 UVSSA C>T	4	1369884	1369884	C	T	UVSSA	c.1496C>T	NM_020894.4	NP_065945.2:p.(Ala499Val)	NC_000004.11:g.1369884C>T	VUS	1 lab	f0c904efa9
2:179485268 TTN C>T	2	179485268	179485268	C	T	TTN	c.45980G>A	NM_001267550.2	NP_001254479.2:p.(Arg15327His)	NC_000002.11:g.179485268C>T	VUS	1 lab	f0c95d0c5f
21:47742583 C21orf58 A>T	21	47742583	47742583	A	T	C21orf58	c.70T>A	NM_058180.5	NP_478060.2:p.(Ser24Thr)	NC_000021.8:g.47742583A>T	(Likely) benign	1 lab	f0cae131db
3:184280088 EPHB3 CGCT>C	3	184280088	184280102	CGCT	C	EPHB3	c.77_79del	NM_004443.4	NP_004434.2:p.(Leu26del)	NC_000003.11:g.184280100_184280102del	VUS	1 lab	f0cbe6ccc6
19:17397501 ANKLE1 T>G	19	17397501	17397501	T	G	ANKLE1	c.*140T>G	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501T>G	VUS	1 lab	f0cd0401e8
18:19751924 GATA6 C>A	18	19751924	19751924	C	A	GATA6	c.819C>A	NM_005257.6	NP_005248.2:p.(Asn273Lys)	NC_000018.9:g.19751924C>A	VUS	1 lab	f0dabba961
X:50037977 CCNB3 A>G	X	50037977	50037977	A	G	CCNB3	c.319A>G	NM_033031.3	NP_149020.2:p.(Lys107Glu)	NC_000023.10:g.50037977A>G	(Likely) benign	1 lab	f0cd23c917
20:44405729 WFDC3 C>T	20	44405729	44405729	C	T	WFDC3	c.478G>A	NM_080614.2	NP_542181.1:p.(Gly160Arg)	NC_000020.10:g.44405729C>T	(Likely) benign	1 lab	f0cd3cc76d
X:39922189 BCOR T>C	X	39922189	39922189	T	C	BCOR	c.3983A>G	NM_001123385.2	NP_001116857.1:p.(Gln1328Arg)	NC_000023.10:g.39922189T>C	(Likely) benign	1 lab	f0cf138930
11:35284932 SLC1A2 T>C	11	35284932	35284932	T	C	SLC1A2	c.1653+2142A>G	NM_004171.4	NP_004162.2:p.?	NC_000011.9:g.35284932T>C	(Likely) benign	1 lab	f0d03097ae
16:2813897 SRRM2 C>T	16	2813897	2813897	C	T	SRRM2	c.3368C>T	NM_016333.4	NP_057417.3:p.(Ala1123Val)	NC_000016.9:g.2813897C>T	(Likely) benign	1 lab	f0d11940e1
20:43058249 HNF4A G>C	20	43058249	43058249	G	C	HNF4A	c.1369G>C	NM_000457.5	NP_000448.3:p.(Val457Leu)	NC_000020.10:g.43058249G>C	VUS	1 lab	f0d2617761
22:24909430 UPB1 C>G	22	24909430	24909430	C	G	UPB1	c.598C>G	NM_016327.3	NP_057411.1:p.(Pro200Ala)	NC_000022.10:g.24909430C>G	VUS	1 lab	f0d323634d
7:135320312 NUP205 C>T	7	135320312	135320312	C	T	NUP205	c.5060-17C>T	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135320312C>T	(Likely) benign	1 lab	338ae2ab13
4:6296912 WFS1 T>C	4	6296912	6296912	T	C	WFS1	c.857T>C	NM_006005.3	NP_005996.2:p.(Leu286Pro)	NC_000004.11:g.6296912T>C	VUS	1 lab	f0d54b7a4d
17:10533477 MYH3 T>C	17	10533477	10533477	T	C	MYH3	c.5494A>G	NM_002470.4	NP_002461.2:p.(Lys1832Glu)	NC_000017.10:g.10533477T>C	VUS	1 lab	f0d5a08373
4:106156893 TET2 T>A	4	106156893	106156893	T	A	TET2	c.1794T>A	NM_001127208.3	NP_001120680.1:p.(Asn598Lys)	NC_000004.11:g.106156893T>A	(Likely) benign	1 lab	f0d6cbb463
11:46914526 LRP4 C>T	11	46914526	46914526	C	T	LRP4	c.1695G>A	NM_002334.4	NP_002325.2:p.(Glu565=)	NC_000011.9:g.46914526C>T	(Likely) benign	1 lab	f0d6f0858e
15:23891603 MAGEL2 CGGTGGTGGGCCAGGGCGGATG>C	15	23891603	23891647	CGGTGGTGGGCCAGGGCGGATG	C	MAGEL2	c.1266_1286del	NM_019066.5	NP_061939.3:p.(Ile423_Pro429del)	NC_000015.9:g.23891627_23891647del	VUS	1 lab	f0d86a3b62
6:31828388 NEU1 TC>T	6	31828388	31828391	TC	T	NEU1	c.625del	NM_000434.4	NP_000425.1:p.(Glu209SerfsTer94)	NC_000006.11:g.31828391del	(Likely) pathogenic	1 lab	f0dc58b493
X:82763757 POU3F4 G>C	X	82763757	82763757	G	C	POU3F4	c.425G>C	NM_000307.5	NP_000298.3:p.(Ser142Thr)	NC_000023.10:g.82763757G>C	VUS	1 lab	f0de896b4f
15:91454609 MAN2A2 G>A	15	91454609	91454609	G	A	MAN2A2	c.1944-6G>A	NM_006122.4	NP_006113.2:p.?	NC_000015.9:g.91454609G>A	(Likely) benign	1 lab	f0dea48eef
1:22161275 HSPG2 G>A	1	22161275	22161275	G	A	HSPG2	c.10617C>T	NM_005529.7	NP_005520.4:p.(Val3539=)	NC_000001.10:g.22161275G>A	(Likely) benign	1 lab	2e1864926d
6:152469435 SYNE1 G>A	6	152469435	152469435	G	A	SYNE1	c.24721C>T	NM_182961.4	NP_892006.3:p.(His8241Tyr)	NC_000006.11:g.152469435G>A	VUS	1 lab	f0dfad69ef
16:5128838 ALG1 G>A	16	5128838	5128838	G	A	ALG1	c.821G>A	NM_019109.5	NP_061982.3:p.(Arg274His)	NC_000016.9:g.5128838G>A	VUS	1 lab	f0e11dcd26
13:20717009 GJA3 C>T	13	20717009	20717009	C	T	GJA3	c.419G>A	NM_021954.4	NP_068773.2:p.(Arg140His)	NC_000013.10:g.20717009C>T	VUS	1 lab	f0e15b16e8
19:38960083 RYR1 C>T	19	38960083	38960083	C	T	RYR1	c.3695C>T	NM_000540.3	NP_000531.2:p.(Pro1232Leu)	NC_000019.9:g.38960083C>T	VUS	1 lab	f0e210b757
1:38049499 GNL2 T>C	1	38049499	38049499	T	C	GNL2	c.605A>G	NM_013285.3	NP_037417.1:p.(Gln202Arg)	NC_000001.10:g.38049499T>C	VUS	1 lab	f0e243bf24
2:47739567 KCNK12 C>T	2	47739567	47739567	C	T	KCNK12	c.*8479G>A	NM_022055.2	NP_071338.1:p.?	NC_000002.11:g.47739567C>T	VUS	1 lab	f0e296384a
3:130285557 COL6A6 A>C	3	130285557	130285557	A	C	COL6A6	c.1294A>C	NM_001102608.3	NP_001096078.1:p.(Thr432Pro)	NC_000003.11:g.130285557A>C	VUS	1 lab	f0e440af67
12:22061090 ABCC9 C>T	12	22061090	22061090	C	T	ABCC9	c.1376G>A	NM_020297.4	NP_064693.2:p.(Gly459Asp)	NC_000012.11:g.22061090C>T	VUS	1 lab	f0e69f181d
10:14941289 SUV39H2 A>T	10	14941289	14941289	A	T	SUV39H2	c.850-249A>T	NM_001193424.2	NP_001180353.1:p.?	NC_000010.10:g.14941289A>T	VUS	1 lab	f0e7775555
14:105411775 AHNAK2 G>A	14	105411775	105411775	G	A	AHNAK2	c.10013C>T	NM_138420.4	NP_612429.2:p.(Ala3338Val)	NC_000014.8:g.105411775G>A	(Likely) benign	1 lab	f0e8d3526d
2:71778843 DYSF G>T	2	71778843	71778843	G	T	DYSF	c.1799G>T	NM_001130987.2	NP_001124459.1:p.(Arg600Leu)	NC_000002.11:g.71778843G>T	(Likely) benign	1 lab	f0e9d316b1
20:40049753 CHD6 T>C	20	40049753	40049753	T	C	CHD6	c.5522A>G	NM_032221.5	NP_115597.3:p.(Asp1841Gly)	NC_000020.10:g.40049753T>C	VUS	1 lab	f0e9f81e51
1:153752324 SLC27A3 C>G	1	153752324	153752324	C	G	SLC27A3	c.1898C>G	NM_024330.4	NP_077306.3:p.(Thr633Ser)	NC_000001.10:g.153752324C>G	VUS	1 lab	f0ea0888a3
3:142215365 ATR AAAGGAAGT>A	3	142215365	142215375	AAAGGAAGT	A	ATR	c.5739-11_5739-4del	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142215368_142215375del	(Likely) benign	1 lab	f0ea62a965
14:21854028 CHD8 T>G	14	21854028	21854028	T	G	CHD8	c.7490A>C	NM_001170629.2	NP_001164100.1:p.(His2497Pro)	NC_000014.8:g.21854028T>G	VUS	1 lab	f0eab5fbe6
5:7867658 FASTKD3 G>A	5	7867658	7867658	G	A	FASTKD3	c.539C>T	NM_024091.4	NP_076996.2:p.(Thr180Ile)	NC_000005.9:g.7867658G>A	VUS	1 lab	f0eb45f729
1:214557492 PTPN14 G>T	1	214557492	214557492	G	T	PTPN14	c.1706C>A	NM_005401.5	NP_005392.2:p.(Pro569His)	NC_000001.10:g.214557492G>T	VUS	1 lab	f0eb53f35e
4:2835514 SH3BP2 C>A	4	2835514	2835514	C	A	SH3BP2	c.1639C>A	NM_001122681.2	NP_001116153.1:p.(Gln547Lys)	NC_000004.11:g.2835514C>A	(Likely) benign	1 lab	f0ebc8a573
5:7868313 FASTKD3 G>GAAAA	5	7868313	7868336	G	GAAAA	FASTKD3	c.-113-8_-113-5dup	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868333_7868336dup	(Likely) benign	1 lab	f0ebf0dd51
3:126261215 CHST13 G>C	3	126261215	126261215	G	C	CHST13	c.820G>C	NM_152889.3	NP_690849.1:p.(Ala274Pro)	NC_000003.11:g.126261215G>C	VUS	1 lab	f0ebff43a8
15:63926993 HERC1 T>C	15	63926993	63926993	T	C	HERC1	c.12509A>G	NM_003922.4	NP_003913.3:p.(Asn4170Ser)	NC_000015.9:g.63926993T>C	VUS	1 lab	f0ec0787e4
1:36215385 CLSPN C>A	1	36215385	36215385	C	A	CLSPN	c.2056G>T	NM_022111.4	NP_071394.2:p.(Glu686Ter)	NC_000001.10:g.36215385C>A	VUS	1 lab	f0ec8eef74
1:44466729 SLC6A9 T>A	1	44466729	44466729	T	A	SLC6A9	c.1336-2A>T	NM_001024845.3	NP_001020016.1:p.?	NC_000001.10:g.44466729T>A	VUS	1 lab	f0fbd78aa4
11:72005727 CLPB C>G	11	72005727	72005727	C	G	CLPB	c.1587G>C	NM_030813.6	NP_110440.1:p.(Gln529His)	NC_000011.9:g.72005727C>G	VUS	1 lab	2e1aa058cb
4:6303991 WFS1 C>T	4	6303991	6303991	C	T	WFS1	c.2469C>T	NM_006005.3	NP_005996.2:p.(Ile823=)	NC_000004.11:g.6303991C>T	(Likely) benign	1 lab	f0f2494fe3
3:122002840 CASR G>A	3	122002840	122002840	G	A	CASR	c.2039G>A	NM_000388.4	NP_000379.3:p.(Arg680His)	NC_000003.11:g.122002840G>A	(Likely) pathogenic	1 lab	f0f358aa7a
11:68571505 CPT1A C>T	11	68571505	68571505	C	T	CPT1A	c.518G>A	NM_001876.4	NP_001867.2:p.(Arg173His)	NC_000011.9:g.68571505C>T	(Likely) benign	1 lab	f0f41a1ecc
21:47551957 COL6A2 A>G	21	47551957	47551957	A	G	COL6A2	c.2551A>G	NM_001849.4	NP_001840.3:p.(Lys851Glu)	NC_000021.8:g.47551957A>G	VUS	1 lab	f0f4943d3d
7:104703913 KMT2E C>G	7	104703913	104703913	C	G	KMT2E	c.302C>G	NM_182931.3	NP_891847.1:p.(Ser101Cys)	NC_000007.13:g.104703913C>G	VUS	1 lab	f0f5c7a240
14:105238745 AKT1 C>T	14	105238745	105238745	C	T	AKT1	c.1217G>A	NM_001382430.1	NP_001369359.1:p.(Arg406His)	NC_000014.8:g.105238745C>T	(Likely) benign	1 lab	f0f7be1b38
6:100061998 PRDM13 TCTC>T	6	100061998	100062003	TCTC	T	PRDM13	c.1490_1492del	NM_021620.4	NP_067633.2:p.(Ser497del)	NC_000006.11:g.100062001_100062003del	VUS	1 lab	f0f80c52cc
4:78979257 FRAS1 CGT>C	4	78979257	78979274	CGT	C	FRAS1	c.76+34_76+35del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979273_78979274del	(Likely) benign	1 lab	30e3ba1131
X:79973157 BRWD3 G>A	X	79973157	79973157	G	A	BRWD3	c.2146C>T	NM_153252.5	NP_694984.5:p.(Pro716Ser)	NC_000023.10:g.79973157G>A	VUS	1 lab	2e1b32aeb8
11:93517899 MED17 G>A	11	93517899	93517899	G	A	MED17	c.220G>A	NM_004268.5	NP_004259.3:p.(Gly74Arg)	NC_000011.9:g.93517899G>A	VUS	1 lab	f0fae1f643
10:105174859 PDCD11 T>C	10	105174859	105174859	T	C	PDCD11	c.1469T>C	NM_014976.2	NP_055791.1:p.(Met490Thr)	NC_000010.10:g.105174859T>C	(Likely) benign	1 lab	f0fb041208
X:150840686 PASD1 AGGAGCAGCAGCGGCAGCTGCG>A	X	150840686	150840715	AGGAGCAGCAGCGGCAGCTGCG	A	PASD1	c.1478_1498del	NM_173493.3	NP_775764.2:p.(Gln493_Gln499del)	NC_000023.10:g.150840695_150840715del	(Likely) benign	1 lab	f0fc654372
2:179584946 TTN A>G	2	179584946	179584946	A	G	TTN	c.23423T>C	NM_001267550.2	NP_001254479.2:p.(Ile7808Thr)	NC_000002.11:g.179584946A>G	VUS	1 lab	f0fcc053c5
4:1953960 NSD2 C>G	4	1953960	1953960	C	G	NSD2	c.2137+2C>G	NM_133330.2	NP_579877.1:p.?	NC_000004.11:g.1953960C>G	(Likely) pathogenic	1 lab	30e59d1c79
9:35793085 NPR2 T>C	9	35793085	35793085	T	C	NPR2	c.667+13T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35793085T>C	(Likely) benign	1 lab	f0ff78373e
15:90211005 PLIN1 C>T	15	90211005	90211005	C	T	PLIN1	c.791G>A	NM_002666.5	NP_002657.3:p.(Gly264Asp)	NC_000015.9:g.90211005C>T	VUS	1 lab	f10347048e
5:13753599 DNAH5 G>A	5	13753599	13753599	G	A	DNAH5	c.10615C>T	NM_001369.3	NP_001360.1:p.(Arg3539Cys)	NC_000005.9:g.13753599G>A	VUS	1 lab	f103c7e2b2
11:71943759 INPPL1 A>G	11	71943759	71943759	A	G	INPPL1	c.1802A>G	NM_001567.4	NP_001558.3:p.(His601Arg)	NC_000011.9:g.71943759A>G	VUS	1 lab	f103f94ed6
14:30046661 PRKD1 T>C	14	30046661	30046661	T	C	PRKD1	c.2522A>G	NM_002742.3	NP_002733.2:p.(Asp841Gly)	NC_000014.8:g.30046661T>C	(Likely) benign	1 lab	f103fed6f7
19:46915857 CCDC8 T>G	19	46915857	46915857	T	G	CCDC8	c.211A>C	NM_032040.5	NP_114429.2:p.(Lys71Gln)	NC_000019.9:g.46915857T>G	(Likely) benign	1 lab	f105d4f79e
15:78401780 CIB2 G>A	15	78401780	78401780	G	A	CIB2	c.199-56C>T	NM_006383.4	NP_006374.1:p.?	NC_000015.9:g.78401780G>A	(Likely) benign	1 lab	f1066c805e
10:97444369 TCTN3 T>C	10	97444369	97444369	T	C	TCTN3	c.982A>G	NM_015631.6	NP_056446.4:p.(Ile328Val)	NC_000010.10:g.97444369T>C	(Likely) benign	1 lab	f10721a3e9
5:176638707 NSD1 G>A	5	176638707	176638707	G	A	NSD1	c.3307G>A	NM_022455.5	NP_071900.2:p.(Asp1103Asn)	NC_000005.9:g.176638707G>A	(Likely) benign	1 lab	f1084e2693
3:18391002 SATB1 AT>A	3	18391002	18391007	AT	A	SATB1	c.2047del	NM_001195470.3	NP_001182399.1:p.(Ile683PhefsTer56)	NC_000003.11:g.18391007del	(Likely) pathogenic	1 lab	2e1ee16fdd
12:6697064 CHD4 G>A	12	6697064	6697064	G	A	CHD4	c.3517C>T	NM_001273.5	NP_001264.2:p.(Arg1173Trp)	NC_000012.11:g.6697064G>A	(Likely) pathogenic	1 lab	f10968eda6
3:172165772 GHSR G>A	3	172165772	172165772	G	A	GHSR	c.432C>T	NM_198407.2	NP_940799.1:p.(Ala144=)	NC_000003.11:g.172165772G>A	(Likely) benign	1 lab	f10bf3aacc
10:73472496 C10orf105 C>T	10	73472496	73472496	C	T	C10orf105	c.*3197G>A	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472496C>T	VUS	1 lab	f10cbacacc
X:70355500 MED12 C>T	X	70355500	70355500	C	T	MED12	c.5025+397C>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70355500C>T	(Likely) benign	1 lab	f10d0f3576
X:100880870 ARMCX3 G>T	X	100880870	100880870	G	T	ARMCX3	c.901G>T	NM_177947.3	NP_808816.1:p.(Val301Phe)	NC_000023.10:g.100880870G>T	VUS	1 lab	f1105a0c21
X:153178898 ARHGAP4 C>T	X	153178898	153178898	C	T	ARHGAP4	c.1291G>A	NM_001666.5	NP_001657.3:p.(Gly431Ser)	NC_000023.10:g.153178898C>T	(Likely) benign	1 lab	f1115563e8
3:173998917 NLGN1 A>G	3	173998917	173998917	A	G	NLGN1	c.2356A>G	NM_001365925.2	NP_001352854.1:p.(Met786Val)	NC_000003.11:g.173998917A>G	(Likely) benign	1 lab	f1115d63ad
13:32929083 BRCA2 C>T	13	32929083	32929083	C	T	BRCA2	c.7093C>T	NM_000059.4	NP_000050.3:p.(His2365Tyr)	NC_000013.10:g.32929083C>T	VUS	1 lab	f111edc1ec
21:44474013 CBS C>T	21	44474013	44474013	C	T	CBS	c.1633G>A	NM_000071.3	NP_000062.1:p.(Ala545Thr)	NC_000021.8:g.44474013C>T	VUS	1 lab	f112e68b05
10:70520825 CCAR1 A>G	10	70520825	70520825	A	G	CCAR1	c.1982A>G	NM_018237.4	NP_060707.2:p.(Gln661Arg)	NC_000010.10:g.70520825A>G	(Likely) benign	1 lab	f114c7d5ca
16:1258166 CACNA1H C>A	16	1258166	1258166	C	A	CACNA1H	c.3308C>A	NM_021098.3	NP_066921.2:p.(Ser1103Tyr)	NC_000016.9:g.1258166C>A	VUS	1 lab	f1150ada95
16:89882290 FANCA G>A	16	89882290	89882290	G	A	FANCA	c.184C>T	NM_000135.4	NP_000126.2:p.(Leu62Phe)	NC_000016.9:g.89882290G>A	VUS	1 lab	f11644f15e
9:26923293 PLAA C>T	9	26923293	26923293	C	T	PLAA	c.922G>A	NM_001031689.3	NP_001026859.1:p.(Glu308Lys)	NC_000009.11:g.26923293C>T	VUS	1 lab	f116767627
X:151143090 GABRE GACA>G	X	151143090	151143096	GACA	G	GABRE	c.5_7del	NM_004961.4	NP_004952.2:p.(Leu2del)	NC_000023.10:g.151143094_151143096del	(Likely) benign	1 lab	f11685271f
6:108243119 SEC63 GAAAAACA>G	6	108243119	108243131	GAAAAACA	G	SEC63	c.340-13_340-7del	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243131del	(Likely) benign	1 lab	30e6226394
10:31803635 ZEB1 T>C	10	31803635	31803635	T	C	ZEB1	c.792T>C	NM_001174096.2	NP_001167567.1:p.(Ser264=)	NC_000010.10:g.31803635T>C	(Likely) benign	1 lab	f1188c0ea6
11:108158409 ATM C>A	11	108158409	108158409	C	A	ATM	c.4076C>A	NM_000051.4	NP_000042.3:p.(Ala1359Asp)	NC_000011.9:g.108158409C>A	VUS	1 lab	f118a34daa
16:30731568 SRCAP G>A	16	30731568	30731568	G	A	SRCAP	c.2903G>A	NM_006662.3	NP_006653.2:p.(Arg968His)	NC_000016.9:g.30731568G>A	VUS	1 lab	f1194681d7
3:46940145 PTH1R C>T	3	46940145	46940145	C	T	PTH1R	c.639-7C>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46940145C>T	(Likely) benign	1 lab	f11abb7f32
19:11362851 DOCK6 G>A	19	11362851	11362851	G	A	DOCK6	c.451C>T	NM_020812.4	NP_065863.2:p.(Arg151Cys)	NC_000019.9:g.11362851G>A	VUS	1 lab	f11c1e43b3
1:22178610 HSPG2 G>A	1	22178610	22178610	G	A	HSPG2	c.6841C>T	NM_005529.7	NP_005520.4:p.(Arg2281Cys)	NC_000001.10:g.22178610G>A	VUS	1 lab	f1201a8d05
4:46314740 GABRA2 T>TA	4	46314740	46314746	T	TA	GABRA2	c.256-8dup	NM_000807.4	NP_000798.2:p.?	NC_000004.11:g.46314746dup	(Likely) benign	1 lab	f1213cda39
2:32460525 NLRC4 G>A	2	32460525	32460525	G	A	NLRC4	c.2727C>T	NM_021209.4	NP_067032.3:p.(Leu909=)	NC_000002.11:g.32460525G>A	(Likely) benign	1 lab	30e77ec9b4
22:19754308 TBX1 C>T	22	19754308	19754308	C	T	TBX1	c.1433C>T	NM_001379200.1	NP_001366129.1:p.(Ala478Val)	NC_000022.10:g.19754308C>T	(Likely) benign	1 lab	f1236b64d5
9:130630639 AK1 A>G	9	130630639	130630639	A	G	AK1	c.477T>C	NM_000476.3	NP_000467.1:p.(Pro159=)	NC_000009.11:g.130630639A>G	(Likely) benign	1 lab	2e1f988ab8
16:67691917 ACD C>T	16	67691917	67691917	C	T	ACD	c.1178G>A	NM_001082486.2	NP_001075955.2:p.(Arg393Lys)	NC_000016.9:g.67691917C>T	VUS	1 lab	f1253d0477
11:13391185 BMAL1 G>C	11	13391185	13391185	G	C	BMAL1	c.691G>C	NM_001297719.2	NP_001284648.1:p.(Asp231His)	NC_000011.9:g.13391185G>C	VUS	1 lab	f125df8115
12:48379606 COL2A1 C>T	12	48379606	48379606	C	T	COL2A1	c.1585G>A	NM_001844.5	NP_001835.3:p.(Ala529Thr)	NC_000012.11:g.48379606C>T	VUS	1 lab	f12607f68e
17:7750231 KDM6B C>T	17	7750231	7750231	C	T	KDM6B	c.806C>T	NM_001348716.2	NP_001335645.1:p.(Ala269Val)	NC_000017.10:g.7750231C>T	VUS	1 lab	f127c0e4ee
15:89390644 ACAN G>A	15	89390644	89390644	G	A	ACAN	c.1600G>A	NM_001369268.1	NP_001356197.1:p.(Val534Ile)	NC_000015.9:g.89390644G>A	VUS	1 lab	f128ba1a7a
20:60882496 ADRM1 GCTC>G	20	60882496	60882506	GCTC	G	ADRM1	c.619_621del	NM_007002.4	NP_008933.2:p.(Ser209del)	NC_000020.10:g.60882504_60882506del	VUS	1 lab	f129f3afe4
15:64005825 HERC1 C>T	15	64005825	64005825	C	T	HERC1	c.4190G>A	NM_003922.4	NP_003913.3:p.(Arg1397His)	NC_000015.9:g.64005825C>T	VUS	1 lab	f12b0cd13e
4:6303706 WFS1 C>T	4	6303706	6303706	C	T	WFS1	c.2184C>T	NM_006005.3	NP_005996.2:p.(Gly728=)	NC_000004.11:g.6303706C>T	(Likely) benign	1 lab	f12b3c275a
12:121878782 KDM2B T>TG	12	121878782	121878788	T	TG	KDM2B	c.3449-3dup	NM_032590.5	NP_115979.3:p.?	NC_000012.11:g.121878788dup	(Likely) benign	1 lab	f12bf0a4cf
X:123179176 STAG2 G>T	X	123179176	123179176	G	T	STAG2	c.625G>T	NM_001042749.2	NP_001036214.1:p.(Asp209Tyr)	NC_000023.10:g.123179176G>T	VUS	1 lab	2e275d7b03
2:216245755 FN1 G>A	2	216245755	216245755	G	A	FN1	c.5213C>T	NM_212482.4	NP_997647.2:p.(Ser1738Phe)	NC_000002.11:g.216245755G>A	VUS	1 lab	f12eeba680
16:23614812 PALB2 C>T	16	23614812	23614812	C	T	PALB2	c.3529G>A	NM_024675.4	NP_078951.2:p.(Asp1177Asn)	NC_000016.9:g.23614812C>T	(Likely) benign	1 lab	f12ff4b4a7
2:196837001 DNAH7 T>C	2	196837001	196837001	T	C	DNAH7	c.2023A>G	NM_018897.3	NP_061720.2:p.(Lys675Glu)	NC_000002.11:g.196837001T>C	(Likely) benign	1 lab	f1350da746
1:10719818 CASZ1 G>A	1	10719818	10719818	G	A	CASZ1	c.1281C>T	NM_001079843.3	NP_001073312.1:p.(Tyr427=)	NC_000001.10:g.10719818G>A	(Likely) benign	1 lab	f135ad3968
17:61908397 PSMC5 G>A	17	61908397	61908397	G	A	PSMC5	c.681G>A	NM_002805.6	NP_002796.4:p.(Gly227=)	NC_000017.10:g.61908397G>A	(Likely) benign	1 lab	f135f065f4
2:179629287 TTN C>T	2	179629287	179629287	C	T	TTN	c.9955G>A	NM_001267550.2	NP_001254479.2:p.(Val3319Ile)	NC_000002.11:g.179629287C>T	VUS	1 lab	f13835b6df
6:152722369 SYNE1 C>T	6	152722369	152722369	C	T	SYNE1	c.6933G>A	NM_182961.4	NP_892006.3:p.(Lys2311=)	NC_000006.11:g.152722369C>T	(Likely) benign	1 lab	30e834a44c
16:70285776 EXOSC6 C>A	16	70285776	70285776	C	A	EXOSC6	c.28G>T	NM_058219.3	NP_478126.1:p.(Gly10Cys)	NC_000016.9:g.70285776C>A	(Likely) benign	1 lab	f1392dd4ed
19:7132173 INSR G>C	19	7132173	7132173	G	C	INSR	c.2838C>G	NM_000208.4	NP_000199.2:p.(Asp946Glu)	NC_000019.9:g.7132173G>C	(Likely) benign	1 lab	f1399bb704
10:81061907 ZMIZ1 G>A	10	81061907	81061907	G	A	ZMIZ1	c.2063G>A	NM_020338.4	NP_065071.1:p.(Arg688His)	NC_000010.10:g.81061907G>A	VUS	1 lab	f139b3d414
5:149515295 PDGFRB C>T	5	149515295	149515295	C	T	PDGFRB	c.187G>A	NM_002609.4	NP_002600.1:p.(Glu63Lys)	NC_000005.9:g.149515295C>T	VUS	1 lab	f139d563ba
9:101216454 GABBR2 C>T	9	101216454	101216454	C	T	GABBR2	c.1045G>A	NM_005458.8	NP_005449.5:p.(Val349Met)	NC_000009.11:g.101216454C>T	(Likely) benign	1 lab	f13a0834ff
20:3899393 PANK2 T>G	20	3899393	3899393	T	G	PANK2	c.1282T>G	NM_001386393.1	NP_001373322.1:p.(Leu428Val)	NC_000020.10:g.3899393T>G	VUS	1 lab	f13a91b949
15:93575307 MISSING G>A	15	93575307	93575307	G	A	MISSING				NC_000015.9:g.93575307G>A	(Likely) benign	1 lab	f13e832115
21:35260600 ITSN1 C>T	21	35260600	35260600	C	T	ITSN1	c.5162C>T	NM_003024.3	NP_003015.2:p.(Pro1721Leu)	NC_000021.8:g.35260600C>T	VUS	1 lab	f13f6506af
16:1576705 IFT140 C>T	16	1576705	1576705	C	T	IFT140	c.2492G>A	NM_014714.4	NP_055529.2:p.(Arg831His)	NC_000016.9:g.1576705C>T	VUS	1 lab	f13ffb3a58
9:139913530 ABCA2 T>C	9	139913530	139913530	T	C	ABCA2	c.1555-8A>G	NM_001606.5	NP_001597.2:p.?	NC_000009.11:g.139913530T>C	VUS	1 lab	f143773f69
17:41223093 BRCA1 C>T	17	41223093	41223093	C	T	BRCA1	c.4838G>A	NM_007294.4	NP_009225.1:p.(Ser1613Asn)	NC_000017.10:g.41223093C>T	VUS	1 lab	f143c84c2c
4:3076652 HTT CAG>C	4	3076652	3076654	CAG	C	HTT	c.101_102del	NM_001388492.1	NP_001375421.1:p.(Gln34ProfsTer48)	NC_000004.11:g.3076653_3076654del	(Likely) benign	1 lab	f143fa4823
11:102992208 DYNC2H1 C>T	11	102992208	102992208	C	T	DYNC2H1	c.1468C>T	NM_001377.3	NP_001368.2:p.(Arg490Cys)	NC_000011.9:g.102992208C>T	VUS	1 lab	f146dda105
6:157237248 ARID1B T>G	6	157237248	157237248	T	G	ARID1B	c.2136+14589T>G	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157237248T>G	(Likely) benign	1 lab	f14766f771
11:17408835 KCNJ11 G>A	11	17408835	17408835	G	A	KCNJ11	c.804C>T	NM_000525.4	NP_000516.3:p.(Tyr268=)	NC_000011.9:g.17408835G>A	VUS	1 lab	f149b0d38b
11:86519468 PRSS23 G>A	11	86519468	86519468	G	A	PRSS23	c.783G>A	NM_007173.6	NP_009104.3:p.(Met261Ile)	NC_000011.9:g.86519468G>A	VUS	1 lab	f14b6bb994
4:114279178 ANK2 G>T	4	114279178	114279178	G	T	ANK2	c.9404G>T	NM_001148.6	NP_001139.3:p.(Gly3135Val)	NC_000004.11:g.114279178G>T	VUS	1 lab	f14d5a587a
15:89849361 FANCI G>T	15	89849361	89849361	G	T	FANCI	c.3473G>T	NM_001113378.2	NP_001106849.1:p.(Cys1158Phe)	NC_000015.9:g.89849361G>T	VUS	1 lab	f14dbf3972
15:74363561 GOLGA6A G>A	15	74363561	74363561	G	A	GOLGA6A	c.1858C>T	NM_001038640.2	NP_001033729.2:p.(His620Tyr)	NC_000015.9:g.74363561G>A	VUS	1 lab	f14f7ba764
6:132198239 ENPP1 C>G	6	132198239	132198239	C	G	ENPP1	c.1831C>G	NM_006208.3	NP_006199.2:p.(Leu611Val)	NC_000006.11:g.132198239C>G	(Likely) benign	1 lab	f1513266b7
5:112175901 APC CAG>C	5	112175901	112175904	CAG	C	APC	c.4612_4613del	NM_000038.6	NP_000029.2:p.(Glu1538IlefsTer5)	NC_000005.9:g.112175903_112175904del	(Likely) pathogenic	1 lab	f15196fab5
12:12336974 LRP6 A>G	12	12336974	12336974	A	G	LRP6	c.916T>C	NM_002336.3	NP_002327.2:p.(Tyr306His)	NC_000012.11:g.12336974A>G	VUS	1 lab	f151d34381
2:48026609 MSH6 G>A	2	48026609	48026609	G	A	MSH6	c.1487G>A	NM_000179.3	NP_000170.1:p.(Cys496Tyr)	NC_000002.11:g.48026609G>A	VUS	1 lab	f152f6b65e
8:133492672 KCNQ3 G>GGCC	8	133492672	133492683	G	GGCC	KCNQ3	c.105_107dup	NM_004519.4	NP_004510.1:p.(Ala36dup)	NC_000008.10:g.133492681_133492683dup	VUS	1 lab	f153662f67
7:73646490 RFC2 C>T	7	73646490	73646490	C	T	RFC2	c.1011G>A	NM_181471.3	NP_852136.1:p.(Met337Ile)	NC_000007.13:g.73646490C>T	VUS	1 lab	2e2f20d667
16:67201124 HSF4 C>T	16	67201124	67201124	C	T	HSF4	c.728C>T	NM_001374675.1	NP_001361604.1:p.(Ser243Leu)	NC_000016.9:g.67201124C>T	VUS	1 lab	f153acebe3
3:58133989 FLNB G>A	3	58133989	58133989	G	A	FLNB	c.5785G>A	NM_001457.4	NP_001448.2:p.(Asp1929Asn)	NC_000003.11:g.58133989G>A	(Likely) benign	1 lab	f15430c9c5
3:10084235 FANCD2 ATT>A	3	10084235	10084240	ATT	A	FANCD2	c.784-4_784-3del	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10084239_10084240del	(Likely) benign	1 lab	f1558be82a
14:103059332 RCOR1 G>A	14	103059332	103059332	G	A	RCOR1	c.109G>A	NM_015156.4	NP_055971.2:p.(Ala37Thr)	NC_000014.8:g.103059332G>A	(Likely) benign	1 lab	f1563eac09
18:10471732 APCDD1 G>A	18	10471732	10471732	G	A	APCDD1	c.448G>A	NM_153000.5	NP_694545.1:p.(Val150Ile)	NC_000018.9:g.10471732G>A	(Likely) benign	1 lab	2e2f83fb8f
2:109384056 RANBP2 T>C	2	109384056	109384056	T	C	RANBP2	c.7061T>C	NM_006267.5	NP_006258.3:p.(Ile2354Thr)	NC_000002.11:g.109384056T>C	VUS	1 lab	f15a3b23b3
13:52342400 DHRS12 C>T	13	52342400	52342400	C	T	DHRS12	c.730G>A	NM_001377533.1	NP_001364462.1:p.(Ala244Thr)	NC_000013.10:g.52342400C>T	VUS	1 lab	f15b3219c3
9:73151470 TRPM3 G>A	9	73151470	73151470	G	A	TRPM3	c.4559C>T	NM_001366145.2	NP_001353074.1:p.(Thr1520Ile)	NC_000009.11:g.73151470G>A	(Likely) benign	1 lab	f15d28a7c1
15:34610785 SLC12A6 C>T	15	34610785	34610785	C	T	SLC12A6	c.271+17826G>A	NM_001365088.1	NP_001352017.1:p.?	NC_000015.9:g.34610785C>T	VUS	1 lab	f15e52c2d2
1:173702952 KLHL20 C>T	1	173702952	173702952	C	T	KLHL20	c.124C>T	NM_014458.4	NP_055273.2:p.(Arg42Cys)	NC_000001.10:g.173702952C>T	VUS	1 lab	f15f1c2c10
1:153651616 NPR1 G>T	1	153651616	153651616	G	T	NPR1	c.32G>T	NM_000906.4	NP_000897.3:p.(Arg11Leu)	NC_000001.10:g.153651616G>T	(Likely) benign	1 lab	f15f30370e
9:135947056 CEL C>CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	9	135947056	135947105	C	CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	CEL	c.2184_2216dup	NM_001807.6	NP_001798.3:p.(Gly729_Thr739dup)	NC_000009.11:g.135947073_135947105dup	VUS	1 lab	f1606d2bb8
2:149221350 MBD5 G>T	2	149221350	149221350	G	T	MBD5	c.259G>T	NM_018328.5	NP_060798.2:p.(Ala87Ser)	NC_000002.11:g.149221350G>T	VUS	1 lab	2e334d8d33
3:53263329 TKT T>TGA	3	53263329	53263331	T	TGA	TKT	c.1229_1230dup	NM_001064.4	NP_001055.1:p.(Asn411SerfsTer22)	NC_000003.11:g.53263330_53263331dup	VUS	1 lab	f161ac8df0
2:152389991 NEB A>G	2	152389991	152389991	A	G	NEB	c.21382T>C	NM_001164508.2	NP_001157980.2:p.(Leu7128=)	NC_000002.11:g.152389991A>G	(Likely) benign	1 lab	f16343e3a2
1:184688660 EDEM3 G>C	1	184688660	184688660	G	C	EDEM3	c.994C>G	NM_025191.4	NP_079467.3:p.(Leu332Val)	NC_000001.10:g.184688660G>C	VUS	1 lab	f164489102
X:53113810 TSPYL2 G>A	X	53113810	53113810	G	A	TSPYL2	c.885+6G>A	NM_022117.4	NP_071400.1:p.?	NC_000023.10:g.53113810G>A	(Likely) benign	1 lab	f164720ffb
4:6599028 MAN2B2 G>A	4	6599028	6599028	G	A	MAN2B2	c.1246G>A	NM_015274.3	NP_056089.1:p.(Glu416Lys)	NC_000004.11:g.6599028G>A	VUS	1 lab	f1649976ab
X:100746320 ARMCX4 A>G	X	100746320	100746320	A	G	ARMCX4	c.2744A>G	NM_001256155.3	NP_001243084.2:p.(Asn915Ser)	NC_000023.10:g.100746320A>G	(Likely) benign	1 lab	f164d3887e
3:10191474 VHL A>G	3	10191474	10191474	A	G	VHL	c.467A>G	NM_000551.3	NP_000542.1:p.(Tyr156Cys)	NC_000003.11:g.10191474A>G	(Likely) pathogenic	1 lab	30ed04cb36
16:16255300 ABCC6 G>C	16	16255300	16255300	G	C	ABCC6	c.3628C>G	NM_001171.6	NP_001162.5:p.(Leu1210Val)	NC_000016.9:g.16255300G>C	VUS	1 lab	f165bd176c
9:135946690 CEL G>GC	9	135946690	135946698	G	GC	CEL	c.1809dup	NM_001807.6	NP_001798.3:p.(Val604ArgfsTer6)	NC_000009.11:g.135946698dup	VUS	1 lab	f165efbdf9
X:36091379 CFAP47 A>C	X	36091379	36091379	A	C	CFAP47	c.4589A>C	NM_001304548.2	NP_001291477.1:p.(His1530Pro)	NC_000023.10:g.36091379A>C	(Likely) benign	1 lab	f166447519
16:69776288 NOB1 G>A	16	69776288	69776288	G	A	NOB1	c.1186C>T	NM_014062.3	NP_054781.1:p.(Arg396Trp)	NC_000016.9:g.69776288G>A	(Likely) benign	1 lab	f1674999b1
1:235543370 TBCE TG>T	1	235543370	235543371	TG	T	TBCE	c.7del	NM_003193.5	NP_003184.1:p.(Asp3ThrfsTer3)	NC_000001.10:g.235543371del	VUS	1 lab	f1680e1c43
1:210857225 KCNH1 C>T	1	210857225	210857225	C	T	KCNH1	c.2368G>A	NM_172362.3	NP_758872.1:p.(Val790Met)	NC_000001.10:g.210857225C>T	VUS	1 lab	f168ec843d
1:220267581 IARS2 G>T	1	220267581	220267581	G	T	IARS2	c.23G>T	NM_018060.4	NP_060530.3:p.(Arg8Leu)	NC_000001.10:g.220267581G>T	(Likely) benign	1 lab	f169401c09
15:49089537 CEP152 A>C	15	49089537	49089537	A	C	CEP152	c.501T>G	NM_001194998.2	NP_001181927.1:p.(Asn167Lys)	NC_000015.9:g.49089537A>C	VUS	1 lab	f169771258
7:288323 FAM20C G>A	7	288323	288323	G	A	FAM20C	c.999G>A	NM_020223.4	NP_064608.2:p.(Met333Ile)	NC_000007.13:g.288323G>A	(Likely) benign	1 lab	f16c1068d7
15:89388971 ACAN C>T	15	89388971	89388971	C	T	ACAN	c.1287C>T	NM_001369268.1	NP_001356197.1:p.(Phe429=)	NC_000015.9:g.89388971C>T	(Likely) benign	1 lab	f16cb1e6e7
5:1295029 TERT T>C	5	1295029	1295029	T	C	TERT	c.76A>G	NM_198253.3	NP_937983.2:p.(Thr26Ala)	NC_000005.9:g.1295029T>C	(Likely) benign	1 lab	f16ce53144
17:8409718 MYH10 T>C	17	8409718	8409718	T	C	MYH10	c.3304A>G	NM_001256012.3	NP_001242941.1:p.(Ile1102Val)	NC_000017.10:g.8409718T>C	(Likely) benign	1 lab	f16daaa8dd
14:74970012 LTBP2 G>A	14	74970012	74970012	G	A	LTBP2	c.4798C>T	NM_000428.3	NP_000419.1:p.(Arg1600Cys)	NC_000014.8:g.74970012G>A	VUS	1 lab	f17254d7ba
20:42747152 JPH2 G>T	20	42747152	42747152	G	T	JPH2	c.1281C>A	NM_020433.4	NP_065166.2:p.(Tyr427Ter)	NC_000020.10:g.42747152G>T	(Likely) pathogenic	1 lab	30f17ff3a4
9:139909169 ABCA2 C>T	9	139909169	139909169	C	T	ABCA2	c.3976G>A	NM_001606.5	NP_001597.2:p.(Asp1326Asn)	NC_000009.11:g.139909169C>T	VUS	1 lab	f175275d1b
8:41399354 GINS4 G>C	8	41399354	41399354	G	C	GINS4	c.511G>C	NM_032336.3	NP_115712.1:p.(Val171Leu)	NC_000008.10:g.41399354G>C	VUS	1 lab	f1763392a3
4:106888601 NPNT C>T	4	106888601	106888601	C	T	NPNT	c.1602C>T	NM_001033047.3	NP_001028219.1:p.(Ser534=)	NC_000004.11:g.106888601C>T	(Likely) benign	1 lab	f17a9b65b2
2:223084917 PAX3 G>A	2	223084917	223084917	G	A	PAX3	c.1115C>T	NM_181458.4	NP_852123.1:p.(Pro372Leu)	NC_000002.11:g.223084917G>A	VUS	1 lab	f17d3d78a7
X:78216724 P2RY10 G>A	X	78216724	78216724	G	A	P2RY10	c.707G>A	NM_014499.4	NP_055314.1:p.(Ser236Asn)	NC_000023.10:g.78216724G>A	VUS	1 lab	f17efd2185
14:23790761 PABPN1 T>G	14	23790761	23790761	T	G	PABPN1	c.83T>G	NM_004643.4	NP_004634.1:p.(Val28Gly)	NC_000014.8:g.23790761T>G	VUS	1 lab	f17f144505
14:79434692 NRXN3 A>G	14	79434692	79434692	A	G	NRXN3	c.3142+3A>G	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79434692A>G	VUS	1 lab	f17f754ca5
15:63984649 HERC1 C>T	15	63984649	63984649	C	T	HERC1	c.5791G>A	NM_003922.4	NP_003913.3:p.(Glu1931Lys)	NC_000015.9:g.63984649C>T	(Likely) benign	1 lab	f182847735
21:19635164 CHODL A>T	21	19635164	19635164	A	T	CHODL	c.691A>T	NM_024944.3	NP_079220.2:p.(Ile231Leu)	NC_000021.8:g.19635164A>T	VUS	1 lab	f1832dbf02
19:41930446 BCKDHA A>G	19	41930446	41930446	A	G	BCKDHA	c.1271A>G	NM_000709.4	NP_000700.1:p.(Gln424Arg)	NC_000019.9:g.41930446A>G	VUS	1 lab	f18355ed7b
11:792860 SLC25A22 C>A	11	792860	792860	C	A	SLC25A22	c.412+10G>T	NM_001191060.1	NP_001177989.1:p.?	NC_000011.9:g.792860C>A	(Likely) benign	1 lab	30f0b42b06
18:19429294 MIB1 CT>C	18	19429294	19429295	CT	C	MIB1	c.2532del	NM_020774.4	NP_065825.1:p.(Pro845HisfsTer49)	NC_000018.9:g.19429295del	VUS	1 lab	f1842f7b4b
19:50831561 KCNC3 C>T	19	50831561	50831561	C	T	KCNC3	c.779G>A	NM_004977.3	NP_004968.2:p.(Gly260Asp)	NC_000019.9:g.50831561C>T	VUS	1 lab	f1845193b1
X:44120523 EFHC2 C>T	X	44120523	44120523	C	T	EFHC2	c.404G>A	NM_025184.4	NP_079460.2:p.(Arg135Gln)	NC_000023.10:g.44120523C>T	VUS	1 lab	f3aa6c3047
1:152279894 FLG AC>A	1	152279894	152279897	AC	A	FLG	c.7467del	NM_002016.2	NP_002007.1:p.(Ser2490LeufsTer110)	NC_000001.10:g.152279897del	(Likely) pathogenic	1 lab	f1849b4866
12:118588864 TAOK3 T>C	12	118588864	118588864	T	C	TAOK3	c.2635A>G	NM_016281.4	NP_057365.3:p.(Ser879Gly)	NC_000012.11:g.118588864T>C	VUS	1 lab	f1864f2dae
13:23907186 SACS C>G	13	23907186	23907186	C	G	SACS	c.10829G>C	NM_014363.6	NP_055178.3:p.(Arg3610Thr)	NC_000013.10:g.23907186C>G	(Likely) benign	1 lab	f186810deb
12:113835016 SDS C>T	12	113835016	113835016	C	T	SDS	c.607G>A	NM_006843.3	NP_006834.2:p.(Ala203Thr)	NC_000012.11:g.113835016C>T	(Likely) benign	1 lab	f1877ef2e1
14:23521791 CDH24 C>T	14	23521791	23521791	C	T	CDH24	c.1254G>A	NM_144985.4	NP_659422.2:p.(Pro418=)	NC_000014.8:g.23521791C>T	VUS	1 lab	f1886dd9c0
14:74995694 LTBP2 T>G	14	74995694	74995694	T	G	LTBP2	c.2119A>C	NM_000428.3	NP_000419.1:p.(Ser707Arg)	NC_000014.8:g.74995694T>G	(Likely) benign	1 lab	f188f3c10e
16:3778196 CREBBP G>C	16	3778196	3778196	G	C	CREBBP	c.6852C>G	NM_004380.3	NP_004371.2:p.(Thr2284=)	NC_000016.9:g.3778196G>C	(Likely) benign	1 lab	f1898dcdd5
19:41858865 TGFB1 C>T	19	41858865	41858865	C	T	TGFB1	c.85G>A	NM_000660.7	NP_000651.3:p.(Gly29Arg)	NC_000019.9:g.41858865C>T	VUS	1 lab	f18a3a27a5
4:79294005 FRAS1 CTGCAAGAGTAAG>C	4	79294005	79294019	CTGCAAGAGTAAG	C	FRAS1	c.3006_3010+7del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79294008_79294019del	VUS	1 lab	f18d25bfd2
18:55274732 NARS1 G>A	18	55274732	55274732	G	A	NARS1	c.745C>T	NM_004539.4	NP_004530.1:p.(Arg249Ter)	NC_000018.9:g.55274732G>A	VUS	1 lab	f18d4ff42b
19:39015993 RYR1 C>T	19	39015993	39015993	C	T	RYR1	c.10477C>T	NM_000540.3	NP_000531.2:p.(Arg3493Cys)	NC_000019.9:g.39015993C>T	VUS	1 lab	f18e788a19
5:74017496 GFM2 C>T	5	74017496	74017496	C	T	GFM2	c.2324G>A	NM_032380.5	NP_115756.2:p.(Arg775Lys)	NC_000005.9:g.74017496C>T	VUS	1 lab	f18f14337b
1:209812007 LAMB3 A>T	1	209812007	209812007	A	T	LAMB3	c.184-14T>A	NM_001017402.2	NP_001017402.1:p.?	NC_000001.10:g.209812007A>T	(Likely) benign	1 lab	2e34aa6099
12:7046145 ATN1 C>A	12	7046145	7046145	C	A	ATN1	c.1715C>A	NM_001940.4	NP_001931.2:p.(Ser572Tyr)	NC_000012.11:g.7046145C>A	(Likely) benign	1 lab	f18fc2ef48
18:60036105 TNFRSF11A G>A	18	60036105	60036105	G	A	TNFRSF11A	c.955G>A	NM_003839.4	NP_003830.1:p.(Ala319Thr)	NC_000018.9:g.60036105G>A	(Likely) benign	1 lab	f190333cc7
11:118971337 DPAGT1 T>C	11	118971337	118971337	T	C	DPAGT1	c.496+3A>G	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118971337T>C	VUS	1 lab	f1908b61b0
7:44187319 GCK C>T	7	44187319	44187319	C	T	GCK	c.793G>A	NM_000162.5	NP_000153.1:p.(Glu265Lys)	NC_000007.13:g.44187319C>T	(Likely) pathogenic	1 lab	f1916ed132
19:38973980 RYR1 G>A	19	38973980	38973980	G	A	RYR1	c.4758G>A	NM_000540.3	NP_000531.2:p.(Pro1586=)	NC_000019.9:g.38973980G>A	(Likely) benign	1 lab	f191a9d478
7:91631669 AKAP9 C>T	7	91631669	91631669	C	T	AKAP9	c.2438C>T	NM_005751.5	NP_005742.4:p.(Ser813Phe)	NC_000007.13:g.91631669C>T	VUS	1 lab	2e34fab824
1:44019522 PTPRF C>T	1	44019522	44019522	C	T	PTPRF	c.289C>T	NM_002840.5	NP_002831.2:p.(Arg97Trp)	NC_000001.10:g.44019522C>T	VUS	1 lab	f191c04347
2:219920410 IHH T>C	2	219920410	219920410	T	C	IHH	c.755A>G	NM_002181.4	NP_002172.2:p.(His252Arg)	NC_000002.11:g.219920410T>C	(Likely) benign	1 lab	f1941e8c6f
1:2234430 SKI C>G	1	2234430	2234430	C	G	SKI	c.983C>G	NM_003036.4	NP_003027.1:p.(Pro328Arg)	NC_000001.10:g.2234430C>G	(Likely) benign	1 lab	f19614492d
17:44626000 LRRC37A2 G>T	17	44626000	44626000	G	T	LRRC37A2	c.3495G>T	NM_001006607.3	NP_001006608.2:p.(Lys1165Asn)	NC_000017.10:g.44626000G>T	(Likely) benign	1 lab	f196777d67
X:53423406 SMC1A G>A	X	53423406	53423406	G	A	SMC1A	c.2694C>T	NM_006306.4	NP_006297.2:p.(Leu898=)	NC_000023.10:g.53423406G>A	VUS	1 lab	f19699c31b
16:48122449 ABCC12 T>C	16	48122449	48122449	T	C	ABCC12	c.3475+7A>G	NM_001393797.1	NP_001380726.1:p.?	NC_000016.9:g.48122449T>C	(Likely) benign	1 lab	f196fefd00
15:33446344 FMN1 T>C	15	33446344	33446344	T	C	FMN1	c.772A>G	NM_001277313.2	NP_001264242.1:p.(Lys258Glu)	NC_000015.9:g.33446344T>C	(Likely) benign	1 lab	f1b966786e
17:4444820 MYBBP1A G>GCTGCGCCTTGGT	17	4444820	4444840	G	GCTGCGCCTTGGT	MYBBP1A	c.3223_3234dup	NM_014520.4	NP_055335.2:p.(Thr1075_Gln1078dup)	NC_000017.10:g.4444829_4444840dup	VUS	1 lab	f19887fa33
7:48316080 ABCA13 T>C	7	48316080	48316080	T	C	ABCA13	c.6817T>C	NM_152701.5	NP_689914.3:p.(Ser2273Pro)	NC_000007.13:g.48316080T>C	VUS	1 lab	f199390bcb
17:80405443 CYBC1 G>A	17	80405443	80405443	G	A	CYBC1	c.127+13C>T	NM_001033046.4	NP_001028218.1:p.?	NC_000017.10:g.80405443G>A	(Likely) benign	1 lab	30f459c443
11:17332368 NUCB2 T>A	11	17332368	17332368	T	A	NUCB2	c.484-4T>A	NM_005013.4	NP_005004.1:p.?	NC_000011.9:g.17332368T>A	(Likely) benign	1 lab	f19c70c142
5:150028879 SYNPO G>A	5	150028879	150028879	G	A	SYNPO	c.1042G>A	NM_007286.6	NP_009217.3:p.(Asp348Asn)	NC_000005.9:g.150028879G>A	(Likely) benign	1 lab	f19d7d267a
11:66192484 NPAS4 C>T	11	66192484	66192484	C	T	NPAS4	c.2123C>T	NM_178864.4	NP_849195.2:p.(Thr708Met)	NC_000011.9:g.66192484C>T	(Likely) benign	1 lab	f19da6a80e
5:60394877 NDUFAF2 G>A	5	60394877	60394877	G	A	NDUFAF2	c.258+18G>A	NM_174889.5	NP_777549.1:p.?	NC_000005.9:g.60394877G>A	(Likely) benign	1 lab	2e35e5dc58
6:32020477 TNXB C>T	6	32020477	32020477	C	T	TNXB	c.9085G>A	NM_001365276.2	NP_001352205.1:p.(Val3029Met)	NC_000006.11:g.32020477C>T	(Likely) benign	1 lab	f19fdeac30
15:63111778 TLN2 G>A	15	63111778	63111778	G	A	TLN2	c.6835G>A	NM_015059.3	NP_055874.2:p.(Gly2279Ser)	NC_000015.9:g.63111778G>A	(Likely) benign	1 lab	f1a063d42e
4:77676234 SHROOM3 C>T	4	77676234	77676234	C	T	SHROOM3	c.4598C>T	NM_020859.4	NP_065910.3:p.(Pro1533Leu)	NC_000004.11:g.77676234C>T	VUS	1 lab	f1a0ee8794
9:35800159 NPR2 T>A	9	35800159	35800159	T	A	NPR2	c.1123+5T>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800159T>A	(Likely) benign	1 lab	f1a10b977a
22:24041028 RGL4 CAGCTACAAGCTGT>C	22	24041028	24041041	CAGCTACAAGCTGT	C	RGL4	c.1383-2_1393del	NM_153615.2	NP_705843.1:p.?	NC_000022.10:g.24041029_24041041del	VUS	1 lab	f1a11f7d3f
3:49548226 DAG1 A>G	3	49548226	49548226	A	G	DAG1	c.259A>G	NM_004393.6	NP_004384.5:p.(Ile87Val)	NC_000003.11:g.49548226A>G	(Likely) benign	1 lab	f1a207dce5
20:43043165 HNF4A G>A	20	43043165	43043165	G	A	HNF4A	c.511G>A	NM_000457.5	NP_000448.3:p.(Gly171Arg)	NC_000020.10:g.43043165G>A	VUS	1 lab	f1a2f4555e
12:102160052 GNPTAB A>C	12	102160052	102160052	A	C	GNPTAB	c.1429T>G	NM_024312.5	NP_077288.2:p.(Tyr477Asp)	NC_000012.11:g.102160052A>C	VUS	1 lab	f1a38ec4b8
X:6975748 PUDP T>C	X	6975748	6975748	T	C	PUDP	c.511-7235A>G	NM_012080.5	NP_036212.3:p.?	NC_000023.10:g.6975748T>C	VUS	1 lab	f1a556a07f
5:140176006 PCDHA1 A>G	5	140176006	140176006	A	G	PCDHA1	c.2394+7737A>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140176006A>G	(Likely) benign	1 lab	f1a5f04ba6
18:10761042 PIEZO2 C>T	18	10761042	10761042	C	T	PIEZO2	c.3317G>A	NM_001378183.1	NP_001365112.1:p.(Arg1106Gln)	NC_000018.9:g.10761042C>T	(Likely) benign	1 lab	f1a764ecc5
8:26371907 DPYSL2 C>G	8	26371907	26371907	C	G	DPYSL2	c.66C>G	NM_001197293.3	NP_001184222.1:p.(Asn22Lys)	NC_000008.10:g.26371907C>G	VUS	1 lab	f1a9c16660
8:97307356 PTDSS1 T>G	8	97307356	97307356	T	G	PTDSS1	c.472T>G	NM_014754.3	NP_055569.1:p.(Trp158Gly)	NC_000008.10:g.97307356T>G	VUS	1 lab	f1a9e93af2
17:80788710 TBCD C>T	17	80788710	80788710	C	T	TBCD	c.1318+15900C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788710C>T	VUS	1 lab	f1ab35b9a5
1:12640562 DHRS3 C>T	1	12640562	12640562	C	T	DHRS3	c.328G>A	NM_004753.7	NP_004744.2:p.(Val110Ile)	NC_000001.10:g.12640562C>T	VUS	1 lab	f1ac3a5cd1
16:30078368 ALDOA G>A	16	30078368	30078368	G	A	ALDOA	c.141+9G>A	NM_001243177.4	NP_001230106.1:p.?	NC_000016.9:g.30078368G>A	(Likely) benign	1 lab	f1acf62239
16:31284718 ITGAM G>A	16	31284718	31284718	G	A	ITGAM	c.737G>A	NM_000632.4	NP_000623.2:p.(Arg246Gln)	NC_000016.9:g.31284718G>A	(Likely) benign	1 lab	f1ae2bb0d0
14:105420113 AHNAK2 C>A	14	105420113	105420113	C	A	AHNAK2	c.1675G>T	NM_138420.4	NP_612429.2:p.(Gly559Ter)	NC_000014.8:g.105420113C>A	VUS	1 lab	f1af1c4688
6:149718863 TAB2 G>A	6	149718863	149718863	G	A	TAB2	c.1727G>A	NM_001292034.3	NP_001278963.1:p.(Arg576His)	NC_000006.11:g.149718863G>A	VUS	1 lab	f1af6ab58d
1:150470124 TARS2 C>A	1	150470124	150470124	C	A	TARS2	c.1139C>A	NM_025150.5	NP_079426.2:p.(Pro380His)	NC_000001.10:g.150470124C>A	VUS	1 lab	f1b7f3177e
19:55877502 IL11 G>A	19	55877502	55877502	G	A	IL11	c.473C>T	NM_000641.4	NP_000632.1:p.(Ala158Val)	NC_000019.9:g.55877502G>A	VUS	1 lab	f1e78d8a19
21:34861444 DNAJC28 G>A	21	34861444	34861444	G	A	DNAJC28	c.257C>T	NM_001040192.3	NP_001035282.1:p.(Thr86Ile)	NC_000021.8:g.34861444G>A	(Likely) benign	1 lab	f1b0143031
5:112151198 APC A>G	5	112151198	112151198	A	G	APC	c.841A>G	NM_000038.6	NP_000029.2:p.(Thr281Ala)	NC_000005.9:g.112151198A>G	VUS	1 lab	f1b05fe7d7
15:63967079 HERC1 G>A	15	63967079	63967079	G	A	HERC1	c.7308C>T	NM_003922.4	NP_003913.3:p.(Ser2436=)	NC_000015.9:g.63967079G>A	(Likely) benign	1 lab	f1b0744324
1:2235926 SKI G>A	1	2235926	2235926	G	A	SKI	c.1669G>A	NM_003036.4	NP_003027.1:p.(Glu557Lys)	NC_000001.10:g.2235926G>A	VUS	1 lab	f1b0906b65
22:29083905 CHEK2 C>CA	22	29083905	29083906	C	CA	CHEK2	c.1611dup	NM_007194.4	NP_009125.1:p.(Val538CysfsTer12)	NC_000022.10:g.29083906dup	VUS	1 lab	f1b1730fa7
1:11210278 MTOR T>C	1	11210278	11210278	T	C	MTOR	c.4475A>G	NM_004958.4	NP_004949.1:p.(Gln1492Arg)	NC_000001.10:g.11210278T>C	(Likely) benign	1 lab	f1b23084fe
9:119460542 ASTN2 C>T	9	119460542	119460542	C	T	ASTN2	c.2806+27508G>A	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460542C>T	VUS	1 lab	f1b445f793
1:120612040 NOTCH2 T>G	1	120612040	120612040	T	G	NOTCH2	c.-20A>C	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612040T>G	VUS	1 lab	f1b4754ef5
2:179419254 TTN C>T	2	179419254	179419254	C	T	TTN	c.88820G>A	NM_001267550.2	NP_001254479.2:p.(Arg29607Gln)	NC_000002.11:g.179419254C>T	VUS	1 lab	f1b5b55bc2
8:133036917 OC90 T>A	8	133036917	133036917	T	A	OC90	c.1245A>T	NM_001080399.3	NP_001073868.2:p.(Arg415Ser)	NC_000008.10:g.133036917T>A	(Likely) benign	1 lab	f1b602a3e4
19:1453079 APC2 C>G	19	1453079	1453079	C	G	APC2	c.79C>G	NM_005883.3	NP_005874.1:p.(Gln27Glu)	NC_000019.9:g.1453079C>G	VUS	1 lab	f1b70dc4f9
2:38893484 GALM G>A	2	38893484	38893484	G	A	GALM	c.181G>A	NM_138801.3	NP_620156.1:p.(Glu61Lys)	NC_000002.11:g.38893484G>A	VUS	1 lab	d9a75dfd60
2:238268024 COL6A3 C>T	2	238268024	238268024	C	T	COL6A3	c.6290G>A	NM_004369.4	NP_004360.2:p.(Arg2097Gln)	NC_000002.11:g.238268024C>T	VUS	1 lab	f1b86ba626
3:142142431 XRN1 TTCTTC>T	3	142142431	142142440	TTCTTC	T	XRN1	c.676_680del	NM_001282857.2	NP_001269786.1:p.(Glu226SerfsTer32)	NC_000003.11:g.142142436_142142440del	VUS	1 lab	f1b8b04f78
1:39945572 MACF1 C>T	1	39945572	39945572	C	T	MACF1	c.22061C>T	NM_001394062.1	NP_001380991.1:p.(Pro7354Leu)	NC_000001.10:g.39945572C>T	VUS	1 lab	f1b9b95da8
1:44083409 PTPRF G>A	1	44083409	44083409	G	A	PTPRF	c.4198G>A	NM_002840.5	NP_002831.2:p.(Val1400Ile)	NC_000001.10:g.44083409G>A	VUS	1 lab	f1bbfe7181
19:18899386 COMP C>T	19	18899386	18899386	C	T	COMP	c.762+15G>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899386C>T	(Likely) benign	1 lab	f1bc9b7f2c
1:146401844 NBPF14 C>G	1	146401844	146401844	C	G	NBPF14	c.952C>G	NM_001395631.1	NP_001382560.1:p.(Leu318Val)	NC_000001.10:g.146401844C>G	(Likely) benign	1 lab	f1be756ad6
3:58140638 FLNB A>T	3	58140638	58140638	A	T	FLNB	c.6755A>T	NM_001457.4	NP_001448.2:p.(Tyr2252Phe)	NC_000003.11:g.58140638A>T	(Likely) benign	1 lab	f1c051230a
X:75649303 MAGEE1 G>A	X	75649303	75649303	G	A	MAGEE1	c.980G>A	NM_020932.3	NP_065983.1:p.(Gly327Glu)	NC_000023.10:g.75649303G>A	VUS	1 lab	f1c5a1ad84
10:27037612 ABI1 T>C	10	27037612	27037612	T	C	ABI1	c.1333A>G	NM_001012750.3	NP_001012768.1:p.(Ile445Val)	NC_000010.10:g.27037612T>C	VUS	1 lab	f1c6cffb0b
17:40688384 NAGLU G>T	17	40688384	40688384	G	T	NAGLU	c.94G>T	NM_000263.4	NP_000254.2:p.(Val32Leu)	NC_000017.10:g.40688384G>T	(Likely) benign	1 lab	f1c75b6d29
15:44143408 WDR76 C>T	15	44143408	44143408	C	T	WDR76	c.1156C>T	NM_024908.4	NP_079184.2:p.(Arg386Cys)	NC_000015.9:g.44143408C>T	VUS	1 lab	f1c76a987c
18:67788911 RTTN T>C	18	67788911	67788911	T	C	RTTN	c.3409A>G	NM_173630.4	NP_775901.3:p.(Thr1137Ala)	NC_000018.9:g.67788911T>C	VUS	1 lab	f1c7b081a7
17:34079750 GAS2L2 C>G	17	34079750	34079750	C	G	GAS2L2	c.120G>C	NM_139285.4	NP_644814.1:p.(Glu40Asp)	NC_000017.10:g.34079750C>G	VUS	1 lab	f1c8c1447f
14:20843970 TEP1 G>A	14	20843970	20843970	G	A	TEP1	c.6307C>T	NM_007110.5	NP_009041.2:p.(Pro2103Ser)	NC_000014.8:g.20843970G>A	(Likely) benign	1 lab	f1c9103360
5:131972884 RAD50 G>A	5	131972884	131972884	G	A	RAD50	c.3467G>A	NM_005732.4	NP_005723.2:p.(Arg1156His)	NC_000005.9:g.131972884G>A	VUS	1 lab	f1c922bea6
14:65216128 PLEKHG3 C>T	14	65216128	65216128	C	T	PLEKHG3	c.*5707C>T	NM_001308147.2	NP_001295076.1:p.?	NC_000014.8:g.65216128C>T	(Likely) benign	1 lab	f1cafe4cc7
2:179581904 TTN G>A	2	179581904	179581904	G	A	TTN	c.25557C>T	NM_001267550.2	NP_001254479.2:p.(Gly8519=)	NC_000002.11:g.179581904G>A	VUS	1 lab	f1cbdc310f
11:377328 B4GALNT4 G>C	11	377328	377328	G	C	B4GALNT4	c.2204+1G>C	NM_178537.5	NP_848632.2:p.?	NC_000011.9:g.377328G>C	VUS	1 lab	f1fe069c69
15:63930639 HERC1 C>T	15	63930639	63930639	C	T	HERC1	c.12064G>A	NM_003922.4	NP_003913.3:p.(Ala4022Thr)	NC_000015.9:g.63930639C>T	(Likely) benign	1 lab	f1cbe73dfe
10:112344129 SMC3 A>G	10	112344129	112344129	A	G	SMC3	c.1280A>G	NM_005445.4	NP_005436.1:p.(Lys427Arg)	NC_000010.10:g.112344129A>G	(Likely) benign	1 lab	f1cc3bc333
15:63954067 HERC1 C>T	15	63954067	63954067	C	T	HERC1	c.9055G>A	NM_003922.4	NP_003913.3:p.(Asp3019Asn)	NC_000015.9:g.63954067C>T	VUS	1 lab	f1cd4b319d
1:64059266 PGM1 C>A	1	64059266	64059266	C	A	PGM1	c.107C>A	NM_002633.3	NP_002624.2:p.(Ala36Glu)	NC_000001.10:g.64059266C>A	VUS	1 lab	f1cd6db0e7
5:13817726 DNAH5 C>T	5	13817726	13817726	C	T	DNAH5	c.6919G>A	NM_001369.3	NP_001360.1:p.(Val2307Ile)	NC_000005.9:g.13817726C>T	(Likely) benign	1 lab	f1cd78b54b
7:148080842 CNTNAP2 G>T	7	148080842	148080842	G	T	CNTNAP2	c.3577G>T	NM_014141.6	NP_054860.1:p.(Ala1193Ser)	NC_000007.13:g.148080842G>T	VUS	1 lab	f1ce43bac5
3:25686795 TOP2B G>A	3	25686795	25686795	G	A	TOP2B	c.236C>T	NM_001330700.2	NP_001317629.1:p.(Thr79Met)	NC_000003.11:g.25686795G>A	VUS	1 lab	f1ce60ecaa
19:17443831 ANO8 C>T	19	17443831	17443831	C	T	ANO8	c.494G>A	NM_020959.3	NP_066010.1:p.(Arg165His)	NC_000019.9:g.17443831C>T	(Likely) benign	1 lab	f1d2d8f019
11:5322558 OR51B4 C>G	11	5322558	5322558	C	G	OR51B4	c.619G>C	NM_033179.2	NP_149419.2:p.(Asp207His)	NC_000011.9:g.5322558C>G	VUS	1 lab	f1d35f34d6
8:145732032 GPT G>A	8	145732032	145732032	G	A	GPT	c.1280G>A	NM_005309.3	NP_005300.1:p.(Arg427His)	NC_000008.10:g.145732032G>A	(Likely) benign	1 lab	f1d5abd254
7:94049757 COL1A2 G>C	7	94049757	94049757	G	C	COL1A2	c.2187+1G>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94049757G>C	(Likely) pathogenic	1 lab	f1d82f783e
1:149897737 SF3B4 G>A	1	149897737	149897737	G	A	SF3B4	c.904C>T	NM_005850.5	NP_005841.1:p.(Pro302Ser)	NC_000001.10:g.149897737G>A	VUS	1 lab	f1d8c65bc2
19:36214061 KMT2B A>G	19	36214061	36214061	A	G	KMT2B	c.2887A>G	NM_014727.3	NP_055542.1:p.(Met963Val)	NC_000019.9:g.36214061A>G	VUS	1 lab	f1da320fcc
9:73152212 TRPM3 C>T	9	73152212	73152212	C	T	TRPM3	c.3817G>A	NM_001366145.2	NP_001353074.1:p.(Gly1273Arg)	NC_000009.11:g.73152212C>T	VUS	1 lab	f1db49d0c1
X:64722922 ZC3H12B G>A	X	64722922	64722922	G	A	ZC3H12B	c.2344G>A	NM_001010888.4	NP_001010888.3:p.(Asp782Asn)	NC_000023.10:g.64722922G>A	(Likely) benign	1 lab	f1dd78c0af
11:46329436 CREB3L1 C>G	11	46329436	46329436	C	G	CREB3L1	c.401C>G	NM_052854.4	NP_443086.1:p.(Pro134Arg)	NC_000011.9:g.46329436C>G	(Likely) benign	1 lab	f1dd7a06be
6:26104475 H4C3 C>CT	6	26104475	26104477	C	CT	H4C3	c.302dup	NM_003542.4	NP_003533.1:p.(Gly102ArgfsTer?)	NC_000006.11:g.26104477dup	VUS	1 lab	f1ddb2d88b
X:102565515 BEX2 A>C	X	102565515	102565515	A	C	BEX2	c.-81-154T>G	NM_032621.4	NP_116010.1:p.?	NC_000023.10:g.102565515A>C	(Likely) benign	1 lab	f1de17b660
19:45873420 ERCC2 G>C	19	45873420	45873420	G	C	ERCC2	c.76C>G	NM_000400.4	NP_000391.1:p.(Arg26Gly)	NC_000019.9:g.45873420G>C	VUS	1 lab	f1e08f6bb2
16:3640404 SLX4 G>A	16	3640404	3640404	G	A	SLX4	c.3235C>T	NM_032444.4	NP_115820.2:p.(Pro1079Ser)	NC_000016.9:g.3640404G>A	VUS	1 lab	f1e18ad9b8
2:158622545 ACVR1 A>C	2	158622545	158622545	A	C	ACVR1	c.954T>G	NM_001111067.4	NP_001104537.1:p.(His318Gln)	NC_000002.11:g.158622545A>C	VUS	1 lab	f1e1c837b7
16:88789282 PIEZO1 C>G	16	88789282	88789282	C	G	PIEZO1	c.4631G>C	NM_001142864.4	NP_001136336.2:p.(Arg1544Pro)	NC_000016.9:g.88789282C>G	VUS	1 lab	f1e1e3575b
2:220422933 OBSL1 C>A	2	220422933	220422933	C	A	OBSL1	c.3475G>T	NM_015311.3	NP_056126.1:p.(Ala1159Ser)	NC_000002.11:g.220422933C>A	VUS	1 lab	f1e6203149
17:41197684 BRCA1 G>A	17	41197684	41197684	G	A	BRCA1	c.*11C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197684G>A	VUS	1 lab	f1e7251bbc
15:34119397 RYR3 C>A	15	34119397	34119397	C	A	RYR3	c.11246-3C>A	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34119397C>A	(Likely) benign	1 lab	f1e8b9582a
14:105848303 PACS2 C>T	14	105848303	105848303	C	T	PACS2	c.1321C>T	NM_001100913.3	NP_001094383.2:p.(Arg441Trp)	NC_000014.8:g.105848303C>T	(Likely) benign	1 lab	f1ea7b2595
15:44343042 FRMD5 G>C	15	44343042	44343042	G	C	FRMD5	c.103-126535C>G	NM_032892.5	NP_116281.2:p.?	NC_000015.9:g.44343042G>C	(Likely) benign	1 lab	f1eb578974
1:156737969 PRCC C>T	1	156737969	156737969	C	T	PRCC	c.406C>T	NM_005973.5	NP_005964.3:p.(Pro136Ser)	NC_000001.10:g.156737969C>T	(Likely) benign	1 lab	2e3e33b335
12:66221864 HMGA2 A>G	12	66221864	66221864	A	G	HMGA2	c.195A>G	NM_003483.6	NP_003474.1:p.(Gln65=)	NC_000012.11:g.66221864A>G	(Likely) benign	1 lab	f1ec0cdfed
1:43396470 SLC2A1 G>A	1	43396470	43396470	G	A	SLC2A1	c.343C>T	NM_006516.4	NP_006507.2:p.(Leu115=)	NC_000001.10:g.43396470G>A	(Likely) benign	1 lab	2e3ef6c1a4
7:128480110 FLNC G>A	7	128480110	128480110	G	A	FLNC	c.1445G>A	NM_001458.5	NP_001449.3:p.(Arg482Gln)	NC_000007.13:g.128480110G>A	VUS	1 lab	f1ec7cf49a
19:52004795 SIGLEC12 G>A	19	52004795	52004795	G	A	SIGLEC12	c.193C>T	NM_053003.4	NP_443729.1:p.(Arg65Trp)	NC_000019.9:g.52004795G>A	(Likely) benign	1 lab	f1ed1df53d
17:61392035 TANC2 G>A	17	61392035	61392035	G	A	TANC2	c.1219+5G>A	NM_025185.4	NP_079461.2:p.?	NC_000017.10:g.61392035G>A	(Likely) pathogenic	1 lab	d9a896208e
3:112262956 ATG3 A>G	3	112262956	112262956	A	G	ATG3	c.344-3T>C	NM_022488.5	NP_071933.2:p.?	NC_000003.11:g.112262956A>G	VUS	1 lab	30fc128a3c
15:90216640 PLIN1 CTGCTCCTGG>C	15	90216640	90216652	CTGCTCCTGG	C	PLIN1	c.46-4_50del	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90216644_90216652del	VUS	1 lab	f1eef0b3d0
17:77984254 TBC1D16 C>T	17	77984254	77984254	C	T	TBC1D16	c.484G>A	NM_019020.4	NP_061893.2:p.(Glu162Lys)	NC_000017.10:g.77984254C>T	(Likely) benign	1 lab	f1ef66ea96
2:152375465 NEB A>G	2	152375465	152375465	A	G	NEB	c.22695+14T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152375465A>G	(Likely) benign	1 lab	f1efae5b05
5:64868000 PPWD1 G>A	5	64868000	64868000	G	A	PPWD1	c.856G>A	NM_015342.4	NP_056157.1:p.(Val286Ile)	NC_000005.9:g.64868000G>A	(Likely) benign	1 lab	f1f3478d6c
8:41550787 ANK1 C>T	8	41550787	41550787	C	T	ANK1	c.3533-68G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41550787C>T	(Likely) benign	1 lab	30fe0e3239
19:17132991 CPAMD8 C>T	19	17132991	17132991	C	T	CPAMD8	c.93G>A	NM_015692.5	NP_056507.3:p.(Pro31=)	NC_000019.9:g.17132991C>T	VUS	1 lab	f1f4245cba
2:152520151 NEB T>TG	2	152520151	152520153	T	TG	NEB	c.5673dup	NM_001164508.2	NP_001157980.2:p.(Asn1892GlnfsTer14)	NC_000002.11:g.152520153dup	(Likely) pathogenic	1 lab	f1f4c7c078
15:89416156 ACAN C>T	15	89416156	89416156	C	T	ACAN	c.7347C>T	NM_001369268.1	NP_001356197.1:p.(Ala2449=)	NC_000015.9:g.89416156C>T	(Likely) benign	1 lab	f1f6cefc0e
16:89346035 ANKRD11 GC>G	16	89346035	89346037	GC	G	ANKRD11	c.6914del	NM_013275.6	NP_037407.4:p.(Gly2305AlafsTer32)	NC_000016.9:g.89346037del	(Likely) pathogenic	1 lab	f1f826d988
13:32905168 BRCA2 G>C	13	32905168	32905168	G	C	BRCA2	c.793+1G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905168G>C	(Likely) pathogenic	1 lab	f1f82bffb7
17:48695265 CACNA1G A>T	17	48695265	48695265	A	T	CACNA1G	c.5201A>T	NM_018896.5	NP_061496.2:p.(Asp1734Val)	NC_000017.10:g.48695265A>T	VUS	1 lab	f1f8b8e8c2
10:124353087 DMBT1 T>C	10	124353087	124353087	T	C	DMBT1	c.2503T>C	NM_001377530.1	NP_001364459.1:p.(Ser835Pro)	NC_000010.10:g.124353087T>C	VUS	1 lab	f1fbf7f396
16:553035 RAB11FIP3 G>A	16	553035	553035	G	A	RAB11FIP3	c.1333G>A	NM_014700.4	NP_055515.1:p.(Glu445Lys)	NC_000016.9:g.553035G>A	VUS	1 lab	f1fd555af4
1:8390518 SLC45A1 C>A	1	8390518	8390518	C	A	SLC45A1	c.965C>A	NM_001080397.3	NP_001073866.3:p.(Pro322His)	NC_000001.10:g.8390518C>A	(Likely) benign	1 lab	f1ff57061d
3:49568869 DAG1 C>T	3	49568869	49568869	C	T	DAG1	c.925C>T	NM_004393.6	NP_004384.5:p.(Arg309Cys)	NC_000003.11:g.49568869C>T	VUS	1 lab	f200cb168e
19:50093299 PRRG2 C>T	19	50093299	50093299	C	T	PRRG2	c.580C>T	NM_000951.3	NP_000942.1:p.(Pro194Ser)	NC_000019.9:g.50093299C>T	VUS	1 lab	f200f7da90
15:99514335 PGPEP1L A>G	15	99514335	99514335	A	G	PGPEP1L	c.-89T>C	NM_001167902.2	NP_001161374.1:p.?	NC_000015.9:g.99514335A>G	(Likely) benign	1 lab	f20155119b
1:154841987 KCNN3 C>T	1	154841987	154841987	C	T	KCNN3	c.454G>A	NM_002249.6	NP_002240.3:p.(Gly152Ser)	NC_000001.10:g.154841987C>T	VUS	1 lab	f2020e56c6
7:143047518 CLCN1 C>A	7	143047518	143047518	C	A	CLCN1	c.2457C>A	NM_000083.3	NP_000074.3:p.(Cys819Ter)	NC_000007.13:g.143047518C>A	(Likely) pathogenic	1 lab	f20463e5d4
20:44048145 PIGT C>T	20	44048145	44048145	C	T	PIGT	c.596C>T	NM_015937.6	NP_057021.2:p.(Ala199Val)	NC_000020.10:g.44048145C>T	VUS	1 lab	f2072080a4
1:155271334 PKLR G>A	1	155271334	155271334	G	A	PKLR				NC_000001.10:g.155271334G>A	(Likely) benign	1 lab	30fe895c8a
20:46254182 NCOA3 A>G	20	46254182	46254182	A	G	NCOA3	c.314A>G	NM_181659.3	NP_858045.1:p.(Gln105Arg)	NC_000020.10:g.46254182A>G	(Likely) benign	1 lab	f207dd0981
X:115302192 AGTR2 G>A	X	115302192	115302192	G	A	AGTR2	c.-95-29G>A	NM_000686.5	NP_000677.2:p.?	NC_000023.10:g.115302192G>A	(Likely) benign	1 lab	310233888b
11:88242035 GRM5 C>T	11	88242035	88242035	C	T	GRM5	c.3364G>A	NM_001143831.3	NP_001137303.1:p.(Glu1122Lys)	NC_000011.9:g.88242035C>T	VUS	1 lab	f209ad839a
19:41035010 SPTBN4 T>C	19	41035010	41035010	T	C	SPTBN4	c.3920T>C	NM_020971.3	NP_066022.2:p.(Leu1307Pro)	NC_000019.9:g.41035010T>C	VUS	1 lab	f20aabc179
16:89724282 SPATA33 G>T	16	89724282	89724282	G	T	SPATA33	c.-38G>T	NM_001271907.2	NP_001258836.1:p.?	NC_000016.9:g.89724282G>T	VUS	1 lab	f20b8ca8a3
12:120660780 PXN C>T	12	120660780	120660780	C	T	PXN	c.379G>A	NM_001385981.1	NP_001372910.1:p.(Ala127Thr)	NC_000012.11:g.120660780C>T	(Likely) benign	1 lab	f20bc98dc0
2:241685564 KIF1A T>A	2	241685564	241685564	T	A	KIF1A	c.3094A>T	NM_001244008.2	NP_001230937.1:p.(Met1032Leu)	NC_000002.11:g.241685564T>A	(Likely) benign	1 lab	f20bd4f4a8
19:49138923 DBP C>T	19	49138923	49138923	C	T	DBP	c.464G>A	NM_001352.5	NP_001343.2:p.(Gly155Asp)	NC_000019.9:g.49138923C>T	(Likely) benign	1 lab	f20cef7432
5:76732209 WDR41 G>T	5	76732209	76732209	G	T	WDR41	c.1104C>A	NM_018268.4	NP_060738.2:p.(Asn368Lys)	NC_000005.9:g.76732209G>T	VUS	1 lab	f2107bb137
12:18650689 PIK3C2G AT>A	12	18650689	18650690	AT	A	PIK3C2G	c.3016+8del	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18650690del	VUS	1 lab	f21101af74
16:30732719 SRCAP A>G	16	30732719	30732719	A	G	SRCAP	c.3463A>G	NM_006662.3	NP_006653.2:p.(Thr1155Ala)	NC_000016.9:g.30732719A>G	(Likely) benign	1 lab	f2117bcc5f
7:130040658 CEP41 T>G	7	130040658	130040658	T	G	CEP41	c.647A>C	NM_018718.3	NP_061188.1:p.(Asn216Thr)	NC_000007.13:g.130040658T>G	VUS	1 lab	f2124ff3c5
19:16222432 MISSING C>T	19	16222432	16222432	C	T	MISSING				NC_000019.9:g.16222432C>T	VUS	1 lab	3105aae30a
1:237024428 MTR A>T	1	237024428	237024428	A	T	MTR	c.2047A>T	NM_000254.3	NP_000245.2:p.(Ile683Phe)	NC_000001.10:g.237024428A>T	VUS	1 lab	f2131c6e63
X:148627259 EOLA1 G>A	X	148627259	148627259	G	A	EOLA1	c.83G>A	NM_001171907.3	NP_001165378.1:p.(Arg28His)	NC_000023.10:g.148627259G>A	VUS	1 lab	f2134cf3b8
15:23892331 MAGEL2 TC>T	15	23892331	23892335	TC	T	MAGEL2	c.558del	NM_019066.5	NP_061939.3:p.(Thr187ProfsTer52)	NC_000015.9:g.23892335del	(Likely) pathogenic	1 lab	f215680b78
X:25025232 ARX C>A	X	25025232	25025232	C	A	ARX	c.1444G>T	NM_139058.3	NP_620689.1:p.(Gly482Cys)	NC_000023.10:g.25025232C>A	VUS	1 lab	f21604014d
8:110505963 PKHD1L1 A>G	8	110505963	110505963	A	G	PKHD1L1	c.10310A>G	NM_177531.6	NP_803875.2:p.(Asp3437Gly)	NC_000008.10:g.110505963A>G	(Likely) benign	1 lab	f216205a6f
1:44363899 ST3GAL3 G>C	1	44363899	44363899	G	C	ST3GAL3	c.398-8G>C	NM_006279.5	NP_006270.1:p.?	NC_000001.10:g.44363899G>C	(Likely) benign	1 lab	f2164b5387
14:58917432 KIAA0586 A>T	14	58917432	58917432	A	T	KIAA0586	c.1256A>T	NM_001244189.2	NP_001231118.1:p.(Glu419Val)	NC_000014.8:g.58917432A>T	(Likely) benign	1 lab	3106e2c66c
17:17699992 RAI1 C>CGCA	17	17699992	17700010	C	CGCA	RAI1	c.3746_3748dup	NM_030665.4	NP_109590.3:p.(Ser1249dup)	NC_000017.10:g.17700008_17700010dup	VUS	1 lab	f218b81028
2:166019183 SCN3A C>T	2	166019183	166019183	C	T	SCN3A	c.850G>A	NM_006922.4	NP_008853.3:p.(Asp284Asn)	NC_000002.11:g.166019183C>T	(Likely) benign	1 lab	f2280d1ed4
6:157527492 ARID1B TGAC>T	6	157527492	157527500	TGAC	T	ARID1B	c.5592_5594del	NM_001374828.1	NP_001361757.1:p.(Asp1864del)	NC_000006.11:g.157527498_157527500del	(Likely) benign	1 lab	f21ac70cc4
5:177574635 RMND5B C>T	5	177574635	177574635	C	T	RMND5B	c.962C>T	NM_022762.5	NP_073599.2:p.(Pro321Leu)	NC_000005.9:g.177574635C>T	VUS	1 lab	f21c17e4c9
15:51758417 DMXL2 G>C	15	51758417	51758417	G	C	DMXL2	c.7484C>G	NM_001378457.1	NP_001365386.1:p.(Thr2495Arg)	NC_000015.9:g.51758417G>C	VUS	1 lab	f21c798640
15:40994124 RAD51 G>GA	15	40994124	40994125	G	GA	RAD51	c.225+725_225+726insA	NM_002875.5	NP_002866.2:p.?	NC_000015.9:g.40994124_40994125insA	VUS	1 lab	f21dee3729
6:51484207 PKHD1 G>A	6	51484207	51484207	G	A	PKHD1	c.11897C>T	NM_138694.4	NP_619639.3:p.(Ala3966Val)	NC_000006.11:g.51484207G>A	(Likely) benign	1 lab	f21ed1c04b
20:60885969 LAMA5 G>T	20	60885969	60885969	G	T	LAMA5	c.10270C>A	NM_005560.6	NP_005551.3:p.(Arg3424Ser)	NC_000020.10:g.60885969G>T	VUS	1 lab	f21fe485a4
19:45207404 CEACAM16 A>G	19	45207404	45207404	A	G	CEACAM16	c.499A>G	NM_001039213.4	NP_001034302.2:p.(Asn167Asp)	NC_000019.9:g.45207404A>G	(Likely) benign	1 lab	f22057d784
2:166243420 SCN2A T>A	2	166243420	166243420	T	A	SCN2A	c.4716T>A	NM_021007.3	NP_066287.2:p.(Val1572=)	NC_000002.11:g.166243420T>A	(Likely) benign	1 lab	31073f75c5
8:55539575 RP1 T>C	8	55539575	55539575	T	C	RP1	c.3133T>C	NM_006269.2	NP_006260.1:p.(Ser1045Pro)	NC_000008.10:g.55539575T>C	(Likely) benign	1 lab	f2227a2e14
17:63553959 AXIN2 A>G	17	63553959	63553959	A	G	AXIN2	c.780T>C	NM_004655.4	NP_004646.3:p.(Ser260=)	NC_000017.10:g.63553959A>G	VUS	1 lab	f2227a7ad1
19:45860571 ERCC2 G>A	19	45860571	45860571	G	A	ERCC2	c.1436C>T	NM_000400.4	NP_000391.1:p.(Ala479Val)	NC_000019.9:g.45860571G>A	(Likely) benign	1 lab	f22402fa8d
15:89386664 ACAN G>A	15	89386664	89386664	G	A	ACAN	c.836G>A	NM_001369268.1	NP_001356197.1:p.(Arg279Gln)	NC_000015.9:g.89386664G>A	(Likely) benign	1 lab	f224955d4f
3:37089065 MLH1 G>GCTAT	3	37089065	37089068	G	GCTAT	MLH1	c.1789_1790insATCT	NM_000249.4	NP_000240.1:p.(Trp597TyrfsTer14)	NC_000003.11:g.37089067_37089068insATCT	(Likely) pathogenic	1 lab	f225b598ba
4:6303524 WFS1 C>T	4	6303524	6303524	C	T	WFS1	c.2002C>T	NM_006005.3	NP_005996.2:p.(Gln668Ter)	NC_000004.11:g.6303524C>T	(Likely) pathogenic	1 lab	f227be19f7
X:130678867 OR13H1 TCAG>T	X	130678867	130678870	TCAG	T	OR13H1	c.821_823del	NM_001004486.1	NP_001004486.1:p.(Ser274_Val275delinsLeu)	NC_000023.10:g.130678868_130678870del	VUS	1 lab	f2283ba806
7:100424632 EPHB4 G>GAGC	7	100424632	100424639	G	GAGC	EPHB4	c.18_20dup	NM_004444.5	NP_004435.3:p.(Leu7dup)	NC_000007.13:g.100424637_100424639dup	VUS	1 lab	f22d4f2eab
X:103359769 SLC25A53 A>G	X	103359769	103359769	A	G	SLC25A53	c.-31-9798T>C	NM_001012755.5	NP_001012773.2:p.?	NC_000023.10:g.103359769A>G	(Likely) benign	1 lab	f22dffcb6b
8:41393967 GINS4 T>G	8	41393967	41393967	T	G	GINS4	c.183+2T>G	NM_032336.3	NP_115712.1:p.?	NC_000008.10:g.41393967T>G	VUS	1 lab	f22e724bb0
14:103487564 CDC42BPB G>A	14	103487564	103487564	G	A	CDC42BPB	c.176-9039C>T	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103487564G>A	(Likely) benign	1 lab	f22e8de765
11:130284509 ADAMTS8 A>G	11	130284509	130284509	A	G	ADAMTS8	c.1483T>C	NM_007037.6	NP_008968.4:p.(Trp495Arg)	NC_000011.9:g.130284509A>G	VUS	1 lab	f22ecbe080
22:21348889 LZTR1 T>G	22	21348889	21348889	T	G	LZTR1	c.1658T>G	NM_006767.4	NP_006758.2:p.(Leu553Arg)	NC_000022.10:g.21348889T>G	VUS	1 lab	f22f445ec0
19:40719540 MAP3K10 T>G	19	40719540	40719540	T	G	MAP3K10	c.1954T>G	NM_002446.4	NP_002437.2:p.(Trp652Gly)	NC_000019.9:g.40719540T>G	(Likely) benign	1 lab	f22fba3a0a
15:85407901 ALPK3 G>T	15	85407901	85407901	G	T	ALPK3	c.4723+5G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85407901G>T	VUS	1 lab	f22fca802f
8:41789764 KAT6A C>A	8	41789764	41789764	C	A	KAT6A	c.5974G>T	NM_006766.5	NP_006757.2:p.(Val1992Leu)	NC_000008.10:g.41789764C>A	VUS	1 lab	f231344985
11:108190701 ATM G>C	11	108190701	108190701	G	C	ATM	c.6368G>C	NM_000051.4	NP_000042.3:p.(Ser2123Thr)	NC_000011.9:g.108190701G>C	VUS	1 lab	f23192dcb3
X:123043813 XIAP T>C	X	123043813	123043813	T	C	XIAP	c.*2782T>C	NM_001167.4	NP_001158.2:p.?	NC_000023.10:g.123043813T>C	VUS	1 lab	2e44d21852
20:21687561 PAX1 A>C	20	21687561	21687561	A	C	PAX1	c.772A>C	NM_001257096.2	NP_001244025.1:p.(Ser258Arg)	NC_000020.10:g.21687561A>C	VUS	1 lab	f2354b84c1
19:5720074 LONP1 G>C	19	5720074	5720074	G	C	LONP1	c.70C>G	NM_004793.4	NP_004784.2:p.(Leu24Val)	NC_000019.9:g.5720074G>C	(Likely) benign	1 lab	f236576252
14:102469030 DYNC1H1 C>T	14	102469030	102469030	C	T	DYNC1H1	c.4699C>T	NM_001376.5	NP_001367.2:p.(Arg1567Trp)	NC_000014.8:g.102469030C>T	(Likely) pathogenic	1 lab	2e45deb452
14:77844503 SAMD15 T>G	14	77844503	77844503	T	G	SAMD15	c.742T>G	NM_001010860.4	NP_001010860.1:p.(Ser248Ala)	NC_000014.8:g.77844503T>G	VUS	1 lab	f2390dd464
2:179449410 TTN G>A	2	179449410	179449410	G	A	TTN	c.64958C>T	NM_001267550.2	NP_001254479.2:p.(Ala21653Val)	NC_000002.11:g.179449410G>A	VUS	1 lab	f23ded7077
1:976966 AGRN C>T	1	976966	976966	C	T	AGRN	c.1061C>T	NM_198576.4	NP_940978.2:p.(Ala354Val)	NC_000001.10:g.976966C>T	VUS	1 lab	f23f6d8905
X:136649528 ZIC3 G>A	X	136649528	136649528	G	A	ZIC3	c.678G>A	NM_003413.4	NP_003404.1:p.(Met226Ile)	NC_000023.10:g.136649528G>A	VUS	1 lab	f23fa1d390
4:517462 PIGG G>T	4	517462	517462	G	T	PIGG	c.1829G>T	NM_001127178.3	NP_001120650.1:p.(Cys610Phe)	NC_000004.11:g.517462G>T	(Likely) benign	1 lab	f2404b839d
7:128851557 SMO C>T	7	128851557	128851557	C	T	SMO	c.1882C>T	NM_005631.5	NP_005622.1:p.(Arg628Trp)	NC_000007.13:g.128851557C>T	VUS	1 lab	f242b54024
X:595517 SHOX G>A	X	595517	595517	G	A	SHOX	c.442G>A	NM_000451.3	NP_000442.1:p.(Glu148Lys)	NC_000023.10:g.595517G>A	VUS	1 lab	f24420e071
11:64700652 PPP2R5B C>G	11	64700652	64700652	C	G	PPP2R5B	c.1280C>G	NM_006244.4	NP_006235.1:p.(Thr427Ser)	NC_000011.9:g.64700652C>G	VUS	1 lab	f2446ca12e
12:6128892 VWF T>C	12	6128892	6128892	T	C	VWF	c.3692A>G	NM_000552.5	NP_000543.3:p.(Asn1231Ser)	NC_000012.11:g.6128892T>C	VUS	1 lab	f2448a9fcf
17:18043933 MYO15A G>A	17	18043933	18043933	G	A	MYO15A	c.5314G>A	NM_016239.4	NP_057323.3:p.(Ala1772Thr)	NC_000017.10:g.18043933G>A	VUS	1 lab	f24582b9f4
19:11537331 ODAD3 T>C	19	11537331	11537331	T	C	ODAD3	c.775A>G	NM_145045.5	NP_659482.3:p.(Lys259Glu)	NC_000019.9:g.11537331T>C	(Likely) benign	1 lab	f245ee6eab
1:145534254 ITGA10 A>G	1	145534254	145534254	A	G	ITGA10	c.1759A>G	NM_003637.5	NP_003628.2:p.(Thr587Ala)	NC_000001.10:g.145534254A>G	(Likely) benign	1 lab	f247c9a869
X:48935365 WDR45 G>A	X	48935365	48935365	G	A	WDR45	c.172C>T	NM_001029896.2	NP_001025067.1:p.(His58Tyr)	NC_000023.10:g.48935365G>A	VUS	1 lab	f24862f31a
5:38530722 LIFR G>A	5	38530722	38530722	G	A	LIFR	c.28C>T	NM_001127671.2	NP_001121143.1:p.(Arg10Ter)	NC_000005.9:g.38530722G>A	VUS	1 lab	f248a54775
11:103116009 DYNC2H1 A>C	11	103116009	103116009	A	C	DYNC2H1	c.9948A>C	NM_001377.3	NP_001368.2:p.(Leu3316Phe)	NC_000011.9:g.103116009A>C	VUS	1 lab	f2498ce81f
X:2928108 ARSH A>G	X	2928108	2928108	A	G	ARSH	c.130A>G	NM_001011719.2	NP_001011719.1:p.(Arg44Gly)	NC_000023.10:g.2928108A>G	(Likely) benign	1 lab	f24a43a1e5
2:102018907 RFX8 C>T	2	102018907	102018907	C	T	RFX8	c.1236G>A	NM_001145664.2	NP_001139136.2:p.(Met412Ile)	NC_000002.11:g.102018907C>T	(Likely) benign	1 lab	f24ab6b6a5
22:16287690 POTEH A>G	22	16287690	16287690	A	G	POTEH	c.196T>C	NM_001136213.1	NP_001129685.1:p.(Cys66Arg)	NC_000022.10:g.16287690A>G	VUS	1 lab	f24b752cf9
9:101984147 ALG2 G>C	9	101984147	101984147	G	C	ALG2	c.30C>G	NM_033087.4	NP_149078.1:p.(Asp10Glu)	NC_000009.11:g.101984147G>C	(Likely) benign	1 lab	f24b7e2135
3:41504594 ULK4 A>G	3	41504594	41504594	A	G	ULK4	c.3377T>C	NM_017886.4	NP_060356.2:p.(Val1126Ala)	NC_000003.11:g.41504594A>G	(Likely) benign	1 lab	f24d014315
9:79325222 PRUNE2 C>T	9	79325222	79325222	C	T	PRUNE2	c.1968G>A	NM_015225.3	NP_056040.2:p.(Trp656Ter)	NC_000009.11:g.79325222C>T	VUS	1 lab	f24dc4b067
6:33419619 SYNGAP1 CA>C	6	33419619	33419620	CA	C	SYNGAP1	c.3969del	NM_006772.3	NP_006763.2:p.(Pro1324HisfsTer65)	NC_000006.11:g.33419620del	(Likely) benign	1 lab	f24fadbda4
2:170063398 LRP2 G>A	2	170063398	170063398	G	A	LRP2	c.6832C>T	NM_004525.3	NP_004516.2:p.(Pro2278Ser)	NC_000002.11:g.170063398G>A	VUS	1 lab	f250a86606
X:53600745 HUWE1 T>C	X	53600745	53600745	T	C	HUWE1	c.6277A>G	NM_031407.7	NP_113584.3:p.(Ser2093Gly)	NC_000023.10:g.53600745T>C	(Likely) benign	1 lab	f25210b72e
15:60919513 RORA T>A	15	60919513	60919513	T	A	RORA	c.196+51343A>T	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60919513T>A	(Likely) benign	1 lab	f25463e3b9
10:121436093 BAG3 C>T	10	121436093	121436093	C	T	BAG3	c.1027C>T	NM_004281.4	NP_004272.2:p.(Arg343Cys)	NC_000010.10:g.121436093C>T	VUS	1 lab	2e468d295a
19:11363613 DOCK6 C>T	19	11363613	11363613	C	T	DOCK6	c.154G>A	NM_020812.4	NP_065863.2:p.(Glu52Lys)	NC_000019.9:g.11363613C>T	VUS	1 lab	f2553aa1d5
6:87968478 ZNF292 G>C	6	87968478	87968478	G	C	ZNF292	c.5131G>C	NM_015021.3	NP_055836.1:p.(Glu1711Gln)	NC_000006.11:g.87968478G>C	(Likely) benign	1 lab	f2555b15b1
14:77491920 IRF2BPL C>G	14	77491920	77491920	C	G	IRF2BPL	c.2216G>C	NM_024496.4	NP_078772.1:p.(Cys739Ser)	NC_000014.8:g.77491920C>G	VUS	1 lab	f25574ed44
14:105414419 AHNAK2 C>T	14	105414419	105414419	C	T	AHNAK2	c.7369G>A	NM_138420.4	NP_612429.2:p.(Gly2457Arg)	NC_000014.8:g.105414419C>T	(Likely) benign	1 lab	f25724b7d2
8:126091149 WASHC5 G>T	8	126091149	126091149	G	T	WASHC5	c.542C>A	NM_014846.4	NP_055661.3:p.(Ser181Ter)	NC_000008.10:g.126091149G>T	VUS	1 lab	f25941d0cf
X:41062968 USP9X TCAGA>T	X	41062968	41062976	TCAGA	T	USP9X	c.4825-1583_4825-1580del	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.41062973_41062976del	(Likely) benign	1 lab	f2596d731f
3:184071575 CLCN2 C>T	3	184071575	184071575	C	T	CLCN2	c.1730G>A	NM_004366.6	NP_004357.3:p.(Arg577Gln)	NC_000003.11:g.184071575C>T	VUS	1 lab	f25a80b437
4:94436498 GRID2 G>A	4	94436498	94436498	G	A	GRID2	c.2129G>A	NM_001510.4	NP_001501.2:p.(Arg710Gln)	NC_000004.11:g.94436498G>A	VUS	1 lab	f25b259cec
12:79466895 SYT1 T>A	12	79466895	79466895	T	A	SYT1	c.-18+25753T>A	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79466895T>A	(Likely) benign	1 lab	f25d519b85
X:31496209 DMD G>C	X	31496209	31496209	G	C	DMD	c.8937+14C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31496209G>C	(Likely) benign	1 lab	f25db378a3
1:112329624 KCND3 G>A	1	112329624	112329624	G	A	KCND3	c.1211C>T	NM_001378969.1	NP_001365898.1:p.(Ser404Phe)	NC_000001.10:g.112329624G>A	(Likely) pathogenic	1 lab	f25f56aad9
2:241710435 KIF1A G>A	2	241710435	241710435	G	A	KIF1A	c.1294C>T	NM_001244008.2	NP_001230937.1:p.(Arg432Cys)	NC_000002.11:g.241710435G>A	VUS	1 lab	f25ffdd3aa
1:27874390 AHDC1 G>A	1	27874390	27874390	G	A	AHDC1	c.4237C>T	NM_001371928.1	NP_001358857.1:p.(Arg1413Trp)	NC_000001.10:g.27874390G>A	VUS	1 lab	f2608bd34a
20:3211203 SLC4A11 T>A	20	3211203	3211203	T	A	SLC4A11	c.1373A>T	NM_001174089.2	NP_001167560.1:p.(Tyr458Phe)	NC_000020.10:g.3211203T>A	VUS	1 lab	f2610e8d4c
11:118239336 UBE4A T>C	11	118239336	118239336	T	C	UBE4A	c.122-10T>C	NM_001204077.2	NP_001191006.1:p.?	NC_000011.9:g.118239336T>C	(Likely) benign	1 lab	f2612f66da
14:23895271 MYH7 CA>C	14	23895271	23895272	CA	C	MYH7	c.2063del	NM_000257.4	NP_000248.2:p.(Leu688ArgfsTer38)	NC_000014.8:g.23895272del	(Likely) pathogenic	1 lab	2e47af17c7
17:11711080 DNAH9 C>T	17	11711080	11711080	C	T	DNAH9	c.8452C>T	NM_001372.4	NP_001363.2:p.(Arg2818Trp)	NC_000017.10:g.11711080C>T	VUS	1 lab	f2622b7fe3
7:151372582 PRKAG2 C>T	7	151372582	151372582	C	T	PRKAG2	c.608G>A	NM_016203.4	NP_057287.2:p.(Arg203Lys)	NC_000007.13:g.151372582C>T	VUS	1 lab	3107d58f66
17:7406002 POLR2A A>G	17	7406002	7406002	A	G	POLR2A	c.2738A>G	NM_000937.5	NP_000928.1:p.(Asn913Ser)	NC_000017.10:g.7406002A>G	VUS	1 lab	f26332fed6
11:17452393 ABCC8 A>T	11	17452393	17452393	A	T	ABCC8	c.1785T>A	NM_000352.6	NP_000343.2:p.(Ser595Arg)	NC_000011.9:g.17452393A>T	(Likely) benign	1 lab	f263833b79
15:79221816 CTSH A>G	15	79221816	79221816	A	G	CTSH	c.568T>C	NM_004390.5	NP_004381.2:p.(Phe190Leu)	NC_000015.9:g.79221816A>G	VUS	1 lab	f26431f4cf
5:13788995 DNAH5 C>CA	5	13788995	13788996	C	CA	DNAH5	c.8476dup	NM_001369.3	NP_001360.1:p.(Cys2826LeufsTer2)	NC_000005.9:g.13788996dup	(Likely) pathogenic	1 lab	f2648f59b7
1:22206855 HSPG2 C>A	1	22206855	22206855	C	A	HSPG2	c.2195+1G>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22206855C>A	(Likely) pathogenic	1 lab	f264f82827
8:22423308 SORBS3 C>T	8	22423308	22423308	C	T	SORBS3	c.904-31C>T	NM_005775.5	NP_005766.3:p.?	NC_000008.10:g.22423308C>T	(Likely) benign	1 lab	f2653f4efe
19:10270708 DNMT1 C>T	19	10270708	10270708	C	T	DNMT1	c.1075G>A	NM_001130823.3	NP_001124295.1:p.(Val359Ile)	NC_000019.9:g.10270708C>T	(Likely) benign	1 lab	f265d15e79
X:39921585 BCOR G>C	X	39921585	39921585	G	C	BCOR	c.4235C>G	NM_001123385.2	NP_001116857.1:p.(Ala1412Gly)	NC_000023.10:g.39921585G>C	(Likely) benign	1 lab	f265d1b92f
9:137710549 COL5A1 C>T	9	137710549	137710549	C	T	COL5A1	c.4278C>T	NM_000093.4	NP_000084.3:p.(Gly1426=)	NC_000009.11:g.137710549C>T	VUS	1 lab	3108b26ed7
8:2021547 MYOM2 G>A	8	2021547	2021547	G	A	MYOM2	c.1087G>A	NM_003970.4	NP_003961.3:p.(Val363Ile)	NC_000008.10:g.2021547G>A	(Likely) benign	1 lab	31094c3e06
15:28475599 HERC2 C>T	15	28475599	28475599	C	T	HERC2	c.4723G>A	NM_004667.6	NP_004658.3:p.(Glu1575Lys)	NC_000015.9:g.28475599C>T	VUS	1 lab	f2677c70d0
17:28706495 CPD G>T	17	28706495	28706495	G	T	CPD	c.497G>T	NM_001304.5	NP_001295.2:p.(Arg166Leu)	NC_000017.10:g.28706495G>T	VUS	1 lab	f267c8c63f
16:8619876 TMEM114 G>T	16	8619876	8619876	G	T	TMEM114	c.-404C>A	NM_001146336.2	NP_001139808.1:p.?	NC_000016.9:g.8619876G>T	VUS	1 lab	f26936f692
9:97873516 FANCC G>A	9	97873516	97873516	G	A	FANCC	c.1329+229C>T	NM_000136.3	NP_000127.2:p.?	NC_000009.11:g.97873516G>A	(Likely) benign	1 lab	f26954cd7d
3:101023158 IMPG2 T>C	3	101023158	101023158	T	C	IMPG2	c.335-2A>G	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.101023158T>C	(Likely) pathogenic	1 lab	f26a3cf0a5
19:3643278 PIP5K1C G>A	19	3643278	3643278	G	A	PIP5K1C	c.1612C>T	NM_012398.3	NP_036530.1:p.(Arg538Trp)	NC_000019.9:g.3643278G>A	VUS	1 lab	310e603d25
9:136401845 ADAMTSL2 G>C	9	136401845	136401845	G	C	ADAMTSL2	c.11G>C	NM_014694.4	NP_055509.2:p.(Arg4Thr)	NC_000009.11:g.136401845G>C	(Likely) benign	1 lab	f26c70e1db
1:109805544 CELSR2 G>A	1	109805544	109805544	G	A	CELSR2	c.4661G>A	NM_001408.3	NP_001399.1:p.(Arg1554Gln)	NC_000001.10:g.109805544G>A	VUS	1 lab	f26e9aae8a
3:38651267 SCN5A C>T	3	38651267	38651267	C	T	SCN5A	c.892G>A	NM_198056.2	NP_932173.1:p.(Gly298Ser)	NC_000003.11:g.38651267C>T	VUS	1 lab	310e662e67
X:109695614 RTL9 C>T	X	109695614	109695614	C	T	RTL9	c.1769C>T	NM_001385449.1	NP_001372378.1:p.(Thr590Met)	NC_000023.10:g.109695614C>T	(Likely) benign	1 lab	f26ef182d3
6:31827684 NEU1 T>C	6	31827684	31827684	T	C	NEU1	c.1060A>G	NM_000434.4	NP_000425.1:p.(Thr354Ala)	NC_000006.11:g.31827684T>C	(Likely) benign	1 lab	f26ef57410
2:33567971 LTBP1 C>T	2	33567971	33567971	C	T	LTBP1	c.3797C>T	NM_206943.4	NP_996826.3:p.(Ser1266Phe)	NC_000002.11:g.33567971C>T	(Likely) benign	1 lab	f26f8767ac
6:88224017 RARS2 G>A	6	88224017	88224017	G	A	RARS2	c.*114C>T	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88224017G>A	VUS	1 lab	f26fca66d0
16:30199126 CORO1A C>T	16	30199126	30199126	C	T	CORO1A	c.837C>T	NM_007074.4	NP_009005.1:p.(Thr279=)	NC_000016.9:g.30199126C>T	(Likely) benign	1 lab	310f7a8ae9
8:116599244 TRPS1 G>T	8	116599244	116599244	G	T	TRPS1	c.2684C>A	NM_014112.5	NP_054831.2:p.(Ser895Tyr)	NC_000008.10:g.116599244G>T	VUS	1 lab	f2728f4de2
5:137754819 KDM3B C>G	5	137754819	137754819	C	G	KDM3B	c.3613C>G	NM_016604.4	NP_057688.3:p.(Leu1205Val)	NC_000005.9:g.137754819C>G	(Likely) benign	1 lab	f273c64623
4:1980410 NSD2 C>T	4	1980410	1980410	C	T	NSD2	c.3872C>T	NM_001042424.3	NP_001035889.1:p.(Pro1291Leu)	NC_000004.11:g.1980410C>T	(Likely) benign	1 lab	f2748cc310
2:33622305 LTBP1 G>A	2	33622305	33622305	G	A	LTBP1	c.4940G>A	NM_206943.4	NP_996826.3:p.(Cys1647Tyr)	NC_000002.11:g.33622305G>A	VUS	1 lab	f274bdbb4f
X:153282018 IRAK1 C>T	X	153282018	153282018	C	T	IRAK1	c.1106G>A	NM_001569.4	NP_001560.2:p.(Gly369Glu)	NC_000023.10:g.153282018C>T	VUS	1 lab	f274c51906
1:152280779 FLG CAT>C	1	152280779	152280783	CAT	C	FLG	c.6581_6582del	NM_002016.2	NP_002007.1:p.(Tyr2194Ter)	NC_000001.10:g.152280782_152280783del	(Likely) pathogenic	1 lab	2e4b9255aa
13:23949263 SACS G>A	13	23949263	23949263	G	A	SACS	c.166C>T	NM_014363.6	NP_055178.3:p.(Arg56Cys)	NC_000013.10:g.23949263G>A	VUS	1 lab	f2760e1f1f
X:74670747 ZDHHC15 G>C	X	74670747	74670747	G	C	ZDHHC15	c.269C>G	NM_144969.3	NP_659406.1:p.(Ser90Cys)	NC_000023.10:g.74670747G>C	(Likely) benign	1 lab	f276b94608
1:24668716 GRHL3 C>T	1	24668716	24668716	C	T	GRHL3	c.1159C>T	NM_198173.3	NP_937816.1:p.(Arg387Cys)	NC_000001.10:g.24668716C>T	(Likely) benign	1 lab	f276f2c860
1:226034920 TMEM63A A>G	1	226034920	226034920	A	G	TMEM63A	c.2251-6T>C	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226034920A>G	(Likely) benign	1 lab	f27733bb1a
17:29663623 NF1 T>TA	17	29663623	29663624	T	TA	NF1	c.6085-30_6085-29insA	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663623_29663624insA	(Likely) benign	1 lab	2e4e92d4af
22:50515342 MLC1 C>A	22	50515342	50515342	C	A	MLC1	c.526-1G>T	NM_015166.4	NP_055981.1:p.?	NC_000022.10:g.50515342C>A	VUS	1 lab	f27a00fbd9
3:136035822 PCCB T>C	3	136035822	136035822	T	C	PCCB	c.1006T>C	NM_000532.5	NP_000523.2:p.(Tyr336His)	NC_000003.11:g.136035822T>C	VUS	1 lab	f27d493d43
3:15753673 ANKRD28 T>C	3	15753673	15753673	T	C	ANKRD28	c.1247A>G	NM_001349278.2	NP_001336207.1:p.(Asp416Gly)	NC_000003.11:g.15753673T>C	VUS	1 lab	f27e37bf04
11:13749209 FAR1 C>T	11	13749209	13749209	C	T	FAR1	c.1364C>T	NM_032228.6	NP_115604.1:p.(Ala455Val)	NC_000011.9:g.13749209C>T	VUS	1 lab	f27f0dade1
1:27023265 ARID1A G>A	1	27023265	27023265	G	A	ARID1A	c.371G>A	NM_006015.6	NP_006006.3:p.(Gly124Asp)	NC_000001.10:g.27023265G>A	(Likely) benign	1 lab	f27f4aa45a
7:101892117 CUX1 C>G	7	101892117	101892117	C	G	CUX1	c.4313C>G	NM_181552.4	NP_853530.2:p.(Ala1438Gly)	NC_000007.13:g.101892117C>G	(Likely) benign	1 lab	f280f693be
4:88536514 DSPP CAGTGAT>C	4	88536514	88536525	CAGTGAT	C	DSPP	c.2706_2711del	NM_014208.3	NP_055023.2:p.(Asp904_Ser905del)	NC_000004.11:g.88536520_88536525del	VUS	1 lab	f2817444c9
2:131521612 AMER3 G>T	2	131521612	131521612	G	T	AMER3	c.1967G>T	NM_152698.3	NP_689911.2:p.(Gly656Val)	NC_000002.11:g.131521612G>T	(Likely) benign	1 lab	f281cc0f19
X:107979512 IRS4 C>CT	X	107979512	107979513	C	CT	IRS4	c.62_63insA	NM_001379150.1	NP_001366079.1:p.(Ala22GlyfsTer83)	NC_000023.10:g.107979512_107979513insT	VUS	1 lab	f28289c0f8
9:133755533 ABL1 G>A	9	133755533	133755533	G	A	ABL1	c.1502G>A	NM_005157.6	NP_005148.2:p.(Ser501Asn)	NC_000009.11:g.133755533G>A	VUS	1 lab	f283e17ea4
2:122286263 CLASP1 G>A	2	122286263	122286263	G	A	CLASP1	c.368C>T	NM_001395891.1	NP_001382820.1:p.(Ala123Val)	NC_000002.11:g.122286263G>A	(Likely) benign	1 lab	f285850f3c
10:50948800 OGDHL G>A	10	50948800	50948800	G	A	OGDHL	c.2096C>T	NM_018245.3	NP_060715.2:p.(Pro699Leu)	NC_000010.10:g.50948800G>A	VUS	1 lab	f286448a33
8:21981305 HR T>C	8	21981305	21981305	T	C	HR	c.1772A>G	NM_005144.5	NP_005135.2:p.(Glu591Gly)	NC_000008.10:g.21981305T>C	VUS	1 lab	f28b646f6f
3:9517275 SETD5 A>G	3	9517275	9517275	A	G	SETD5	c.3829A>G	NM_001080517.3	NP_001073986.1:p.(Thr1277Ala)	NC_000003.11:g.9517275A>G	(Likely) benign	1 lab	f29220c0b7
22:42911278 RRP7A A>G	22	42911278	42911278	A	G	RRP7A	c.343-4T>C	NM_015703.5	NP_056518.2:p.?	NC_000022.10:g.42911278A>G	(Likely) benign	1 lab	f29273b309
9:35906347 HRCT1 C>CCTG	9	35906347	35906368	C	CCTG	HRCT1	c.82_84dup	NM_001039792.2	NP_001034881.1:p.(Leu28dup)	NC_000009.11:g.35906366_35906368dup	VUS	1 lab	f295619f39
5:14420034 TRIO C>T	5	14420034	14420034	C	T	TRIO	c.5107C>T	NM_007118.4	NP_009049.2:p.(Arg1703Cys)	NC_000005.9:g.14420034C>T	VUS	1 lab	f295d045dd
16:2166868 PKD1 C>T	16	2166868	2166868	C	T	PKD1	c.1572G>A	NM_001009944.2	NP_001009944.2:p.(Ala524=)	NC_000016.9:g.2166868C>T	(Likely) benign	1 lab	3116280f1c
6:33410998 SYNGAP1 G>A	6	33410998	33410998	G	A	SYNGAP1	c.2669G>A	NM_006772.3	NP_006763.2:p.(Arg890His)	NC_000006.11:g.33410998G>A	(Likely) benign	1 lab	f29c2432c5
5:118502307 DMXL1 A>G	5	118502307	118502307	A	G	DMXL1	c.4971-4A>G	NM_001290321.3	NP_001277250.1:p.?	NC_000005.9:g.118502307A>G	(Likely) benign	1 lab	f29c36c8e8
16:2161799 PKD1 G>A	16	2161799	2161799	G	A	PKD1	c.3369C>T	NM_001009944.2	NP_001009944.2:p.(Arg1123=)	NC_000016.9:g.2161799G>A	(Likely) benign	1 lab	311652a2f0
7:44190560 GCK C>G	7	44190560	44190560	C	G	GCK	c.478G>C	NM_000162.5	NP_000153.1:p.(Asp160His)	NC_000007.13:g.44190560C>G	(Likely) pathogenic	1 lab	f29d2981c7
2:219494357 PLCD4 G>A	2	219494357	219494357	G	A	PLCD4	c.1090G>A	NM_032726.4	NP_116115.1:p.(Val364Met)	NC_000002.11:g.219494357G>A	(Likely) benign	1 lab	f29df849da
6:157528104 ARID1B G>T	6	157528104	157528104	G	T	ARID1B	c.6198G>T	NM_001374828.1	NP_001361757.1:p.(Lys2066Asn)	NC_000006.11:g.157528104G>T	VUS	1 lab	f29e01bd83
3:122277194 PARP9 G>A	3	122277194	122277194	G	A	PARP9	c.49+87C>T	NM_001146105.2	NP_001139577.1:p.?	NC_000003.11:g.122277194G>A	VUS	1 lab	f29e0432c8
4:1803732 FGFR3 C>T	4	1803732	1803732	C	T	FGFR3	c.910C>T	NM_000142.5	NP_000133.1:p.(Pro304Ser)	NC_000004.11:g.1803732C>T	VUS	1 lab	f29ef9b962
12:56087912 ITGA7 C>T	12	56087912	56087912	C	T	ITGA7	c.2433-5G>A	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56087912C>T	(Likely) benign	1 lab	f29f683e44
20:31380441 DNMT3B G>A	20	31380441	31380441	G	A	DNMT3B	c.931G>A	NM_006892.4	NP_008823.1:p.(Val311Met)	NC_000020.10:g.31380441G>A	VUS	1 lab	f2a04a8c8d
1:22157470 HSPG2 C>T	1	22157470	22157470	C	T	HSPG2	c.11671+5G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22157470C>T	(Likely) benign	1 lab	f2a0ac1136
17:39742645 KRT14 G>A	17	39742645	39742645	G	A	KRT14	c.442C>T	NM_000526.5	NP_000517.3:p.(Arg148Cys)	NC_000017.10:g.39742645G>A	(Likely) pathogenic	1 lab	2e55cad1f5
4:128814466 PLK4 T>G	4	128814466	128814466	T	G	PLK4	c.2215T>G	NM_014264.5	NP_055079.3:p.(Phe739Val)	NC_000004.11:g.128814466T>G	(Likely) benign	1 lab	f2a1f5808e
19:38997608 RYR1 C>T	19	38997608	38997608	C	T	RYR1	c.8816+16C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38997608C>T	(Likely) benign	1 lab	f2a3bd9837
15:57884302 MYZAP A>C	15	57884302	57884302	A	C	MYZAP	c.70A>C	NM_001018100.5	NP_001018110.1:p.(Arg24=)	NC_000015.9:g.57884302A>C	(Likely) benign	1 lab	338d30e56d
3:9512237 SETD5 G>A	3	9512237	9512237	G	A	SETD5	c.2819G>A	NM_001080517.3	NP_001073986.1:p.(Gly940Asp)	NC_000003.11:g.9512237G>A	(Likely) benign	1 lab	f2a7808b74
4:6290810 WFS1 C>T	4	6290810	6290810	C	T	WFS1	c.412C>T	NM_006005.3	NP_005996.2:p.(Arg138Cys)	NC_000004.11:g.6290810C>T	VUS	1 lab	f2a8f3c9dc
7:75615063 POR G>A	7	75615063	75615063	G	A	POR	c.1565G>A	NM_000941.3	NP_000932.3:p.(Arg522His)	NC_000007.13:g.75615063G>A	VUS	1 lab	f2a94e2296
1:17371279 SDHB C>G	1	17371279	17371279	C	G	SDHB	c.177G>C	NM_003000.3	NP_002991.2:p.(Gln59His)	NC_000001.10:g.17371279C>G	VUS	1 lab	f2aa700896
9:3228871 RFX3 C>T	9	3228871	3228871	C	T	RFX3	c.1987G>A	NM_001282116.2	NP_001269045.1:p.(Val663Met)	NC_000009.11:g.3228871C>T	(Likely) benign	1 lab	f2ab572769
2:130912720 SMPD4 G>A	2	130912720	130912720	G	A	SMPD4	c.1402C>T	NM_017951.5	NP_060421.3:p.(Arg468Ter)	NC_000002.11:g.130912720G>A	VUS	1 lab	f2ad4c8465
10:74928066 FAM149B1 T>TGAGGAG	10	74928066	74928098	T	TGAGGAG	FAM149B1	c.-5_1dup	NM_173348.2	NP_775483.1:p.(Met1?)	NC_000010.10:g.74928093_74928098dup	VUS	1 lab	f2adc8749f
3:27478880 SLC4A7 T>C	3	27478880	27478880	T	C	SLC4A7	c.427A>G	NM_001321103.2	NP_001308032.1:p.(Arg143Gly)	NC_000003.11:g.27478880T>C	VUS	1 lab	f2afd12ca4
1:103471441 COL11A1 G>C	1	103471441	103471441	G	C	COL11A1	c.1798C>G	NM_001854.4	NP_001845.3:p.(Arg600Gly)	NC_000001.10:g.103471441G>C	VUS	1 lab	f2b025f22e
22:20303664 DGCR6L G>A	22	20303664	20303664	G	A	DGCR6L	c.350C>T	NM_033257.4	NP_150282.2:p.(Ala117Val)	NC_000022.10:g.20303664G>A	(Likely) benign	1 lab	f2b0277db1
14:77769182 POMT2 C>T	14	77769182	77769182	C	T	POMT2	c.652G>A	NM_013382.7	NP_037514.2:p.(Asp218Asn)	NC_000014.8:g.77769182C>T	(Likely) benign	1 lab	f2b37eac14
13:101714326 NALCN G>C	13	101714326	101714326	G	C	NALCN	c.4749C>G	NM_052867.4	NP_443099.1:p.(Ile1583Met)	NC_000013.10:g.101714326G>C	VUS	1 lab	f2b4b7f93f
15:60841185 RORA C>G	15	60841185	60841185	C	G	RORA	c.197-17135G>C	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60841185C>G	(Likely) benign	1 lab	f2b4cffc18
2:196729447 DNAH7 A>G	2	196729447	196729447	A	G	DNAH7	c.6932T>C	NM_018897.3	NP_061720.2:p.(Met2311Thr)	NC_000002.11:g.196729447A>G	VUS	1 lab	f2b5c731aa
2:179587265 TTN G>C	2	179587265	179587265	G	C	TTN	c.22249C>G	NM_001267550.2	NP_001254479.2:p.(Leu7417Val)	NC_000002.11:g.179587265G>C	VUS	1 lab	f2b7d47244
8:17796459 PCM1 C>G	8	17796459	17796459	C	G	PCM1	c.553C>G	NM_006197.4	NP_006188.4:p.(Gln185Glu)	NC_000008.10:g.17796459C>G	(Likely) benign	1 lab	f2b82431ba
22:41573663 EP300 G>C	22	41573663	41573663	G	C	EP300	c.5948G>C	NM_001429.4	NP_001420.2:p.(Gly1983Ala)	NC_000022.10:g.41573663G>C	VUS	1 lab	f2b92c9db9
8:145541074 DGAT1 TAGA>T	8	145541074	145541083	TAGA	T	DGAT1	c.1013_1015del	NM_012079.6	NP_036211.2:p.(Phe338del)	NC_000008.10:g.145541081_145541083del	VUS	1 lab	f2b96bfa18
1:158589075 SPTA1 A>C	1	158589075	158589075	A	C	SPTA1	c.6467T>G	NM_003126.4	NP_003117.2:p.(Phe2156Cys)	NC_000001.10:g.158589075A>C	VUS	1 lab	f2b9730612
18:53172818 TCF4 G>C	18	53172818	53172818	G	C	TCF4	c.146-41450C>G	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53172818G>C	(Likely) benign	1 lab	f2b9c4385c
5:122435532 PRDM6 C>T	5	122435532	122435532	C	T	PRDM6	c.776C>T	NM_001136239.4	NP_001129711.1:p.(Ala259Val)	NC_000005.9:g.122435532C>T	VUS	1 lab	f2ba90fa14
3:44684880 ZNF197 G>A	3	44684880	44684880	G	A	ZNF197	c.2258G>A	NM_006991.5	NP_008922.1:p.(Arg753Gln)	NC_000003.11:g.44684880G>A	(Likely) benign	1 lab	f2bcc1eed3
15:99459376 IGF1R C>T	15	99459376	99459376	C	T	IGF1R	c.1996+16C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99459376C>T	(Likely) benign	1 lab	f2bcdf0e3b
7:45112325 CCM2 A>G	7	45112325	45112325	A	G	CCM2	c.746A>G	NM_031443.4	NP_113631.1:p.(Asp249Gly)	NC_000007.13:g.45112325A>G	VUS	1 lab	f2bf0c5c36
6:118024823 NUS1 CACATT>C	6	118024823	118024829	CACATT	C	NUS1	c.749_753del	NM_138459.5	NP_612468.1:p.(Thr250ArgfsTer11)	NC_000006.11:g.118024825_118024829del	VUS	1 lab	f2c2f0af79
11:93528224 MED17 C>T	11	93528224	93528224	C	T	MED17	c.1010C>T	NM_004268.5	NP_004259.3:p.(Pro337Leu)	NC_000011.9:g.93528224C>T	VUS	1 lab	f2c6acef76
2:179401101 TTN A>G	2	179401101	179401101	A	G	TTN	c.100373T>C	NM_001267550.2	NP_001254479.2:p.(Ile33458Thr)	NC_000002.11:g.179401101A>G	VUS	1 lab	2e56b992d7
21:43243792 PRDM15 C>T	21	43243792	43243792	C	T	PRDM15	c.1643G>A	NM_001040424.3	NP_001035514.2:p.(Arg548Gln)	NC_000021.8:g.43243792C>T	VUS	1 lab	f2c94b6395
19:13411977 CACNA1A C>T	19	13411977	13411977	C	T	CACNA1A	c.2173-507G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13411977C>T	(Likely) benign	1 lab	f2ca87ff13
1:155264434 PKLR G>T	1	155264434	155264434	G	T	PKLR	c.804C>A	NM_000298.6	NP_000289.1:p.(Asp268Glu)	NC_000001.10:g.155264434G>T	(Likely) pathogenic	1 lab	311e0614b8
2:179411215 TTN C>T	2	179411215	179411215	C	T	TTN	c.94843G>A	NM_001267550.2	NP_001254479.2:p.(Glu31615Lys)	NC_000002.11:g.179411215C>T	(Likely) benign	1 lab	f2cb3de874
16:1551781 TELO2 G>A	16	1551781	1551781	G	A	TELO2	c.1472+7G>A	NM_016111.4	NP_057195.2:p.?	NC_000016.9:g.1551781G>A	(Likely) benign	1 lab	f2d044cc56
1:203452970 PRELP C>G	1	203452970	203452970	C	G	PRELP	c.658C>G	NM_002725.4	NP_002716.1:p.(Leu220Val)	NC_000001.10:g.203452970C>G	VUS	1 lab	f2d053b706
19:50912882 POLD1 G>A	19	50912882	50912882	G	A	POLD1	c.2113G>A	NM_002691.4	NP_002682.2:p.(Gly705Ser)	NC_000019.9:g.50912882G>A	VUS	1 lab	d9ad430ed3
15:99456487 IGF1R T>C	15	99456487	99456487	T	C	IGF1R	c.1804T>C	NM_000875.5	NP_000866.1:p.(Leu602=)	NC_000015.9:g.99456487T>C	(Likely) benign	1 lab	f2d2242afc
7:151937407 KMT2C G>C	7	151937407	151937407	G	C	KMT2C	c.2533-1496C>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151937407G>C	(Likely) benign	1 lab	f2d3146572
19:18900012 COMP G>A	19	18900012	18900012	G	A	COMP	c.485C>T	NM_000095.3	NP_000086.2:p.(Thr162Ile)	NC_000019.9:g.18900012G>A	(Likely) benign	1 lab	f2d3d4e596
11:17414674 ABCC8 T>C	11	17414674	17414674	T	C	ABCC8	c.4610A>G	NM_000352.6	NP_000343.2:p.(His1537Arg)	NC_000011.9:g.17414674T>C	(Likely) pathogenic	1 lab	f2d709a1fe
8:22864720 RHOBTB2 G>T	8	22864720	22864720	G	T	RHOBTB2	c.962G>T	NM_015178.3	NP_055993.2:p.(Gly321Val)	NC_000008.10:g.22864720G>T	VUS	1 lab	f2d7ec4d06
11:124739349 ROBO3 T>C	11	124739349	124739349	T	C	ROBO3	c.491T>C	NM_022370.4	NP_071765.2:p.(Leu164Pro)	NC_000011.9:g.124739349T>C	(Likely) benign	1 lab	f2d8337b44
7:1520581 INTS1 A>AGC	7	1520581	1520583	A	AGC	INTS1	c.3851-14_3851-13dup	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1520582_1520583dup	(Likely) benign	1 lab	311f85965a
1:158651396 SPTA1 C>T	1	158651396	158651396	C	T	SPTA1	c.452G>A	NM_003126.4	NP_003117.2:p.(Gly151Asp)	NC_000001.10:g.158651396C>T	(Likely) pathogenic	1 lab	f2e34ea52c
4:5624562 EVC2 C>T	4	5624562	5624562	C	T	EVC2	c.2203G>A	NM_147127.5	NP_667338.3:p.(Asp735Asn)	NC_000004.11:g.5624562C>T	VUS	1 lab	f2e39b9669
19:11325031 DOCK6 C>G	19	11325031	11325031	C	G	DOCK6	c.4258G>C	NM_020812.4	NP_065863.2:p.(Val1420Leu)	NC_000019.9:g.11325031C>G	(Likely) benign	1 lab	f2e620e1e3
7:150935426 CHPF2 A>G	7	150935426	150935426	A	G	CHPF2	c.1978A>G	NM_019015.3	NP_061888.1:p.(Ile660Val)	NC_000007.13:g.150935426A>G	(Likely) benign	1 lab	f2e7486985
2:138163200 THSD7B G>A	2	138163200	138163200	G	A	THSD7B	c.2518G>A	NM_001316349.2	NP_001303278.1:p.(Asp840Asn)	NC_000002.11:g.138163200G>A	(Likely) benign	1 lab	f2e7eb5a24
18:21166295 NPC1 C>A	18	21166295	21166295	C	A	NPC1	c.13G>T	NM_000271.5	NP_000262.2:p.(Gly5Cys)	NC_000018.9:g.21166295C>A	VUS	1 lab	f2e823deea
22:51115113 SHANK3 C>T	22	51115113	51115113	C	T	SHANK3	c.556C>T	NM_001372044.2	NP_001358973.1:p.(His186Tyr)	NC_000022.10:g.51115113C>T	VUS	1 lab	f2e84885ef
4:83294791 HNRNPD G>GC	4	83294791	83294792	G	GC	HNRNPD	c.40dup	NM_031370.3	NP_112738.1:p.(Ala14GlyfsTer56)	NC_000004.11:g.83294792dup	(Likely) pathogenic	1 lab	f2e9c6ae1b
X:64148509 ZC4H2 T>C	X	64148509	64148509	T	C	ZC4H2	c.54-6641A>G	NM_018684.4	NP_061154.1:p.?	NC_000023.10:g.64148509T>C	(Likely) benign	1 lab	f2ea9baba3
1:27121376 PIGV G>A	1	27121376	27121376	G	A	PIGV	c.851G>A	NM_017837.4	NP_060307.2:p.(Gly284Asp)	NC_000001.10:g.27121376G>A	VUS	1 lab	f2eb82ecb8
5:151239235 GLRA1 T>G	5	151239235	151239235	T	G	GLRA1	c.476+111A>C	NM_001146040.2	NP_001139512.1:p.?	NC_000005.9:g.151239235T>G	(Likely) benign	1 lab	3121d7ca29
1:11288876 MTOR C>T	1	11288876	11288876	C	T	MTOR	c.2879G>A	NM_004958.4	NP_004949.1:p.(Arg960Gln)	NC_000001.10:g.11288876C>T	(Likely) benign	1 lab	f2ed503094
3:20017608 RAB5A G>A	3	20017608	20017608	G	A	RAB5A	c.385G>A	NM_004162.5	NP_004153.2:p.(Ala129Thr)	NC_000003.11:g.20017608G>A	VUS	1 lab	f2ede5dd16
17:33507673 UNC45B G>A	17	33507673	33507673	G	A	UNC45B	c.2351G>A	NM_001267052.2	NP_001253981.1:p.(Cys784Tyr)	NC_000017.10:g.33507673G>A	VUS	1 lab	f2ee00b95b
12:431585 KDM5A G>C	12	431585	431585	G	C	KDM5A	c.2424C>G	NM_001042603.3	NP_001036068.1:p.(His808Gln)	NC_000012.11:g.431585G>C	(Likely) benign	1 lab	f2efa159b0
11:17408820 KCNJ11 G>A	11	17408820	17408820	G	A	KCNJ11	c.819C>T	NM_000525.4	NP_000516.3:p.(Ser273=)	NC_000011.9:g.17408820G>A	(Likely) benign	1 lab	f2f0e21e26
12:113424899 OAS2 C>T	12	113424899	113424899	C	T	OAS2	c.234C>T	NM_002535.3	NP_002526.2:p.(Val78=)	NC_000012.11:g.113424899C>T	(Likely) benign	1 lab	f2f1657dd3
8:21976479 HR C>T	8	21976479	21976479	C	T	HR	c.3197G>A	NM_005144.5	NP_005135.2:p.(Arg1066His)	NC_000008.10:g.21976479C>T	(Likely) benign	1 lab	f2f1e1e4ee
20:33585426 MYH7B ACT>A	20	33585426	33585430	ACT	A	MYH7B	c.3733_3734del	NM_020884.7	NP_065935.4:p.(Leu1245AspfsTer15)	NC_000020.10:g.33585429_33585430del	VUS	1 lab	f2f1f33ded
19:17893994 FCHO1 G>A	19	17893994	17893994	G	A	FCHO1	c.2093+13G>A	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17893994G>A	(Likely) benign	1 lab	3122694ba9
8:12043883 FAM86B1 C>G	8	12043883	12043883	C	G	FAM86B1	c.618G>C	NM_001083537.4	NP_001077006.1:p.(Gln206His)	NC_000008.10:g.12043883C>G	(Likely) benign	1 lab	f2f2a48bfd
9:100843129 NANS T>C	9	100843129	100843129	T	C	NANS	c.635T>C	NM_018946.4	NP_061819.2:p.(Ile212Thr)	NC_000009.11:g.100843129T>C	VUS	1 lab	f2f361eca5
1:214819304 CENPF G>A	1	214819304	214819304	G	A	CENPF	c.6391G>A	NM_016343.4	NP_057427.3:p.(Asp2131Asn)	NC_000001.10:g.214819304G>A	VUS	1 lab	f2f55a964f
X:63412928 AMER1 C>G	X	63412928	63412928	C	G	AMER1	c.239G>C	NM_152424.4	NP_689637.3:p.(Gly80Ala)	NC_000023.10:g.63412928C>G	(Likely) benign	1 lab	f2f71a615e
8:21973850 HR G>C	8	21973850	21973850	G	C	HR	c.3470C>G	NM_005144.5	NP_005135.2:p.(Pro1157Arg)	NC_000008.10:g.21973850G>C	(Likely) benign	1 lab	f2f7d67ed5
7:100643490 MUC12 G>T	7	100643490	100643490	G	T	MUC12	c.9646G>T	NM_001164462.2	NP_001157934.1:p.(Ala3216Ser)	NC_000007.13:g.100643490G>T	(Likely) benign	1 lab	f2f9b0339a
5:13886229 DNAH5 C>A	5	13886229	13886229	C	A	DNAH5	c.2587G>T	NM_001369.3	NP_001360.1:p.(Val863Leu)	NC_000005.9:g.13886229C>A	(Likely) benign	1 lab	f2f9c8d0b7
7:107600880 LAMB1 C>A	7	107600880	107600880	C	A	LAMB1	c.2314+10G>T	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107600880C>A	(Likely) benign	1 lab	f2faf8bf0f
17:48156297 ITGA3 G>A	17	48156297	48156297	G	A	ITGA3	c.2400+7G>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48156297G>A	(Likely) benign	1 lab	3122bd041c
7:94040287 COL1A2 G>A	7	94040287	94040287	G	A	COL1A2	c.1251+33G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040287G>A	(Likely) benign	1 lab	2e5ae032ef
21:43838553 UBASH3A A>C	21	43838553	43838553	A	C	UBASH3A	c.881A>C	NM_018961.4	NP_061834.1:p.(Glu294Ala)	NC_000021.8:g.43838553A>C	VUS	1 lab	f2fd8e47c6
17:71410819 SDK2 G>T	17	71410819	71410819	G	T	SDK2	c.2448C>A	NM_001144952.2	NP_001138424.1:p.(Ser816Arg)	NC_000017.10:g.71410819G>T	(Likely) benign	1 lab	f2fe31b69b
X:47040798 RBM10 C>T	X	47040798	47040798	C	T	RBM10	c.1433C>T	NM_005676.5	NP_005667.2:p.(Ala478Val)	NC_000023.10:g.47040798C>T	VUS	1 lab	f2ff78745b
16:2158612 PKD1 G>A	16	2158612	2158612	G	A	PKD1	c.6556C>T	NM_001009944.3	NP_001009944.3:p.(Arg2186Cys)	NC_000016.9:g.2158612G>A	VUS	1 lab	f3006e34df
19:35790547 MAG G>T	19	35790547	35790547	G	T	MAG	c.506G>T	NM_002361.4	NP_002352.1:p.(Arg169Leu)	NC_000019.9:g.35790547G>T	(Likely) benign	1 lab	f30082f7c0
10:12162193 DHTKD1 G>T	10	12162193	12162193	G	T	DHTKD1	c.2585G>T	NM_018706.7	NP_061176.4:p.(Ser862Ile)	NC_000010.10:g.12162193G>T	VUS	1 lab	2e5c3caecb
7:44198685 GCK G>A	7	44198685	44198685	G	A	GCK	c.46-5623C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44198685G>A	VUS	1 lab	f301607e5d
7:103180720 RELN C>T	7	103180720	103180720	C	T	RELN	c.6854G>A	NM_005045.4	NP_005036.2:p.(Arg2285His)	NC_000007.13:g.103180720C>T	VUS	1 lab	f301aeab6d
3:15686568 BTD A>G	3	15686568	15686568	A	G	BTD	c.1145A>G	NM_001370658.1	NP_001357587.1:p.(Asn382Ser)	NC_000003.11:g.15686568A>G	VUS	1 lab	f30284799b
11:4132875 RRM1 G>T	11	4132875	4132875	G	T	RRM1	c.487+5G>T	NM_001033.5	NP_001024.1:p.?	NC_000011.9:g.4132875G>T	(Likely) benign	1 lab	f302e1e299
X:48690531 PCSK1N A>T	X	48690531	48690531	A	T	PCSK1N	c.335T>A	NM_013271.5	NP_037403.1:p.(Val112Asp)	NC_000023.10:g.48690531A>T	(Likely) benign	1 lab	f30472d7bf
22:50956007 NCAPH2 C>T	22	50956007	50956007	C	T	NCAPH2	c.268C>T	NM_152299.4	NP_689512.2:p.(Arg90Trp)	NC_000022.10:g.50956007C>T	(Likely) benign	1 lab	f304ee1d85
9:100353688 TMOD1 C>G	9	100353688	100353688	C	G	TMOD1	c.986C>G	NM_003275.4	NP_003266.1:p.(Ser329Cys)	NC_000009.11:g.100353688C>G	VUS	1 lab	f30569c914
7:96650226 DLX5 C>T	7	96650226	96650226	C	T	DLX5	c.692G>A	NM_005221.6	NP_005212.1:p.(Arg231His)	NC_000007.13:g.96650226C>T	VUS	1 lab	f306254ff1
X:27840013 MAGEB10 G>A	X	27840013	27840013	G	A	MAGEB10	c.590G>A	NM_182506.3	NP_872312.2:p.(Gly197Asp)	NC_000023.10:g.27840013G>A	(Likely) benign	1 lab	f3063348f7
1:62545121 PATJ G>A	1	62545121	62545121	G	A	PATJ	c.4126-1G>A	NM_001350145.3	NP_001337074.2:p.?	NC_000001.10:g.62545121G>A	VUS	1 lab	f30679944e
22:50664270 TUBGCP6 G>A	22	50664270	50664270	G	A	TUBGCP6	c.1936C>T	NM_020461.4	NP_065194.3:p.(Arg646Cys)	NC_000022.10:g.50664270G>A	VUS	1 lab	f30882ca00
3:178952136 PIK3CA A>G	3	178952136	178952136	A	G	PIK3CA	c.3191A>G	NM_006218.4	NP_006209.2:p.(Gln1064Arg)	NC_000003.11:g.178952136A>G	VUS	1 lab	2e619d920c
16:77465346 ADAMTS18 G>A	16	77465346	77465346	G	A	ADAMTS18	c.341C>T	NM_199355.4	NP_955387.1:p.(Pro114Leu)	NC_000016.9:g.77465346G>A	(Likely) benign	1 lab	f30ba4fe2c
X:13803814 GPM6B G>A	X	13803814	13803814	G	A	GPM6B	c.295C>T	NM_001001995.3	NP_001001995.1:p.(Leu99Phe)	NC_000023.10:g.13803814G>A	VUS	1 lab	f30c16a308
2:228159680 COL4A3 G>T	2	228159680	228159680	G	T	COL4A3	c.3419G>T	NM_000091.5	NP_000082.2:p.(Gly1140Val)	NC_000002.11:g.228159680G>T	(Likely) benign	1 lab	f30e0616bd
10:81052018 ZMIZ1 G>A	10	81052018	81052018	G	A	ZMIZ1	c.862G>A	NM_020338.4	NP_065071.1:p.(Val288Met)	NC_000010.10:g.81052018G>A	VUS	1 lab	f3141e5fd4
6:18122369 NHLRC1 CT>C	6	18122369	18122370	CT	C	NHLRC1	c.468del	NM_198586.3	NP_940988.2:p.(Gly158GlufsTer74)	NC_000006.11:g.18122370del	(Likely) pathogenic	1 lab	f31505adcc
5:140907248 DIAPH1 C>A	5	140907248	140907248	C	A	DIAPH1	c.3165G>T	NM_005219.5	NP_005210.3:p.(Leu1055Phe)	NC_000005.9:g.140907248C>A	(Likely) benign	1 lab	f315a989c1
6:7585084 DSP T>C	6	7585084	7585084	T	C	DSP	c.7589T>C	NM_004415.4	NP_004406.2:p.(Ile2530Thr)	NC_000006.11:g.7585084T>C	VUS	1 lab	f3eab997f5
8:145000005 PLEC C>CA	8	145000005	145000006	C	CA	PLEC	c.4091_4092insT	NM_201384.3	NP_958786.1:p.(Glu1364AspfsTer81)	NC_000008.10:g.145000005_145000006insA	VUS	1 lab	f315bd240a
10:105830185 COL17A1 C>G	10	105830185	105830185	C	G	COL17A1	c.606G>C	NM_000494.4	NP_000485.3:p.(Ser202=)	NC_000010.10:g.105830185C>G	(Likely) benign	1 lab	f3165a41b5
X:152083074 ZNF185 C>T	X	152083074	152083074	C	T	ZNF185	c.34+7C>T	NM_001395254.1	NP_001382183.1:p.?	NC_000023.10:g.152083074C>T	(Likely) benign	1 lab	f316804d4c
11:3720408 NUP98 C>T	11	3720408	3720408	C	T	NUP98	c.3913G>A	NM_016320.5	NP_057404.2:p.(Val1305Ile)	NC_000011.9:g.3720408C>T	VUS	1 lab	f3172e4a6f
1:3761541 CEP104 G>A	1	3761541	3761541	G	A	CEP104	c.496C>T	NM_014704.4	NP_055519.1:p.(Arg166Ter)	NC_000001.10:g.3761541G>A	(Likely) pathogenic	1 lab	f3176b6c83
1:226125301 LEFTY2 C>T	1	226125301	226125301	C	T	LEFTY2	c.941G>A	NM_003240.5	NP_003231.2:p.(Arg314Gln)	NC_000001.10:g.226125301C>T	VUS	1 lab	f317ba7aa5
3:157823561 SHOX2 C>G	3	157823561	157823561	C	G	SHOX2	c.253G>C	NM_001163678.2	NP_001157150.1:p.(Gly85Arg)	NC_000003.11:g.157823561C>G	VUS	1 lab	f318146429
4:56277964 TMEM165 G>T	4	56277964	56277964	G	T	TMEM165	c.391G>T	NM_018475.5	NP_060945.2:p.(Ala131Ser)	NC_000004.11:g.56277964G>T	VUS	1 lab	f31bfb43f4
11:118949654 VPS11 TG>T	11	118949654	118949656	TG	T	VPS11	c.2215del	NM_021729.6	NP_068375.3:p.(Ala739GlnfsTer17)	NC_000011.9:g.118949656del	VUS	1 lab	f31d7782d3
4:123237557 BLTP1 C>T	4	123237557	123237557	C	T	BLTP1	c.10594C>T	NM_001384125.1	NP_001371054.1:p.(Arg3532Ter)	NC_000004.11:g.123237557C>T	(Likely) pathogenic	1 lab	f31f007475
16:88781132 CTU2 G>A	16	88781132	88781132	G	A	CTU2	c.1339G>A	NM_001012759.3	NP_001012777.1:p.(Gly447Arg)	NC_000016.9:g.88781132G>A	(Likely) benign	1 lab	f32196e408
17:78177659 CARD14 C>A	17	78177659	78177659	C	A	CARD14	c.2258C>A	NM_001366385.1	NP_001353314.1:p.(Thr753Asn)	NC_000017.10:g.78177659C>A	(Likely) benign	1 lab	f321ee5ff6
16:2224298 TRAF7 G>A	16	2224298	2224298	G	A	TRAF7	c.1310G>A	NM_032271.3	NP_115647.2:p.(Gly437Asp)	NC_000016.9:g.2224298G>A	VUS	1 lab	f32455b090
X:153599526 FLNA C>T	X	153599526	153599526	C	T	FLNA	c.88G>A	NM_001110556.2	NP_001104026.1:p.(Ala30Thr)	NC_000023.10:g.153599526C>T	VUS	1 lab	f325dbc117
17:7911301 GUCY2D G>T	17	7911301	7911301	G	T	GUCY2D	c.1619G>T	NM_000180.4	NP_000171.1:p.(Arg540Leu)	NC_000017.10:g.7911301G>T	VUS	1 lab	f32629c273
14:104642952 KIF26A T>C	14	104642952	104642952	T	C	KIF26A	c.3827T>C	NM_015656.2	NP_056471.1:p.(Met1276Thr)	NC_000014.8:g.104642952T>C	(Likely) benign	1 lab	f3274325f6
X:77373565 PGK1 A>G	X	77373565	77373565	A	G	PGK1	c.539A>G	NM_000291.4	NP_000282.1:p.(Asn180Ser)	NC_000023.10:g.77373565A>G	(Likely) benign	1 lab	f328abb6af
X:153036078 PLXNB3 C>T	X	153036078	153036078	C	T	PLXNB3	c.1991C>T	NM_005393.3	NP_005384.2:p.(Thr664Ile)	NC_000023.10:g.153036078C>T	(Likely) benign	1 lab	f32bc425bd
16:1573634 IFT140 A>G	16	1573634	1573634	A	G	IFT140	c.3338T>C	NM_014714.4	NP_055529.2:p.(Ile1113Thr)	NC_000016.9:g.1573634A>G	VUS	1 lab	f32c261d4c
2:152473977 NEB T>A	2	152473977	152473977	T	A	NEB	c.11082A>T	NM_001164508.2	NP_001157980.2:p.(Leu3694Phe)	NC_000002.11:g.152473977T>A	(Likely) benign	1 lab	f32c2fe1eb
19:39061259 RYR1 C>T	19	39061259	39061259	C	T	RYR1	c.13672C>T	NM_000540.3	NP_000531.2:p.(Arg4558Trp)	NC_000019.9:g.39061259C>T	VUS	1 lab	f32cb39d56
1:9642432 SLC25A33 G>A	1	9642432	9642432	G	A	SLC25A33	c.839G>A	NM_032315.3	NP_115691.1:p.(Arg280Gln)	NC_000001.10:g.9642432G>A	(Likely) benign	1 lab	f330aed64f
4:39205365 WDR19 C>T	4	39205365	39205365	C	T	WDR19	c.603+23C>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39205365C>T	(Likely) benign	1 lab	2e6429968e
10:1123833 WDR37 GTCT>G	10	1123833	1123842	GTCT	G	WDR37	c.139-7_139-5del	NM_014023.4	NP_054742.2:p.?	NC_000010.10:g.1123840_1123842del	VUS	1 lab	f332164607
17:73829144 UNC13D G>A	17	73829144	73829144	G	A	UNC13D	c.2368-18C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73829144G>A	(Likely) benign	1 lab	3129df1ffa
3:30732931 TGFBR2 A>T	3	30732931	30732931	A	T	TGFBR2	c.1544A>T	NM_003242.6	NP_003233.4:p.(Glu515Val)	NC_000003.11:g.30732931A>T	(Likely) benign	1 lab	f333e2f08a
3:52326883 GLYCTK C>T	3	52326883	52326883	C	T	GLYCTK	c.1313C>T	NM_145262.4	NP_660305.2:p.(Pro438Leu)	NC_000003.11:g.52326883C>T	VUS	1 lab	f334fb412d
4:54344855 LNX1 G>A	4	54344855	54344855	G	A	LNX1	c.1540C>T	NM_001126328.3	NP_001119800.1:p.(Pro514Ser)	NC_000004.11:g.54344855G>A	VUS	1 lab	f336a0eccc
15:99192888 IGF1R G>T	15	99192888	99192888	G	T	IGF1R	c.78G>T	NM_000875.5	NP_000866.1:p.(Trp26Cys)	NC_000015.9:g.99192888G>T	(Likely) benign	1 lab	f337d437fd
1:11898601 CLCN6 C>T	1	11898601	11898601	C	T	CLCN6	c.2413C>T	NM_001286.5	NP_001277.2:p.(Pro805Ser)	NC_000001.10:g.11898601C>T	(Likely) benign	1 lab	f33973f9e0
13:77652960 MYCBP2 T>G	13	77652960	77652960	T	G	MYCBP2	c.11483A>C	NM_015057.5	NP_055872.4:p.(Gln3828Pro)	NC_000013.10:g.77652960T>G	VUS	1 lab	f339f84da7
9:139333060 INPP5E CTGCTGCGGACGTCCT>C	9	139333060	139333084	CTGCTGCGGACGTCCT	C	INPP5E	c.797_811del	NM_019892.6	NP_063945.2:p.(Lys266_Ser270del)	NC_000009.11:g.139333070_139333084del	VUS	1 lab	f33e2fce42
9:140611151 EHMT1 G>T	9	140611151	140611151	G	T	EHMT1	c.159G>T	NM_024757.5	NP_079033.4:p.(Glu53Asp)	NC_000009.11:g.140611151G>T	(Likely) benign	1 lab	f33f67a35c
X:118892968 SOWAHD G>A	X	118892968	118892968	G	A	SOWAHD	c.338G>A	NM_001105576.3	NP_001099046.1:p.(Arg113Gln)	NC_000023.10:g.118892968G>A	VUS	1 lab	f33f986d9e
22:41564600 EP300 C>T	22	41564600	41564600	C	T	EP300	c.4022C>T	NM_001429.4	NP_001420.2:p.(Ala1341Val)	NC_000022.10:g.41564600C>T	(Likely) benign	1 lab	f340b2827d
18:42456660 SETBP1 C>G	18	42456660	42456660	C	G	SETBP1	c.540+7412C>G	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42456660C>G	VUS	1 lab	f343e1608e
2:178257575 AGPS G>A	2	178257575	178257575	G	A	AGPS	c.58G>A	NM_003659.4	NP_003650.1:p.(Gly20Arg)	NC_000002.11:g.178257575G>A	VUS	1 lab	f3462073d4
9:135940549 CEL AACGTCATCGTGGTC>A	9	135940549	135940565	AACGTCATCGTGGTC	A	CEL	c.466_479del	NM_001807.6	NP_001798.3:p.(Val156LeufsTer21)	NC_000009.11:g.135940552_135940565del	(Likely) benign	1 lab	f346babe6c
2:170344603 BBS5 C>T	2	170344603	170344603	C	T	BBS5	c.365C>T	NM_152384.3	NP_689597.1:p.(Thr122Ile)	NC_000002.11:g.170344603C>T	VUS	1 lab	f34713d3af
7:142983220 TMEM139 G>A	7	142983220	142983220	G	A	TMEM139	c.170G>A	NM_001282876.2	NP_001269805.1:p.(Arg57Gln)	NC_000007.13:g.142983220G>A	(Likely) benign	1 lab	f3480003b0
12:85674221 ALX1 A>G	12	85674221	85674221	A	G	ALX1	c.182A>G	NM_006982.3	NP_008913.2:p.(His61Arg)	NC_000012.11:g.85674221A>G	(Likely) benign	1 lab	f348289432
11:46921062 LRP4 G>A	11	46921062	46921062	G	A	LRP4	c.431-8C>T	NM_002334.4	NP_002325.2:p.?	NC_000011.9:g.46921062G>A	(Likely) benign	1 lab	f3492229f0
9:140713130 EHMT1 T>C	9	140713130	140713130	T	C	EHMT1	c.3540+540T>C	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140713130T>C	(Likely) benign	1 lab	f349b81e19
14:92441601 TRIP11 T>C	14	92441601	92441601	T	C	TRIP11	c.5372A>G	NM_004239.4	NP_004230.2:p.(His1791Arg)	NC_000014.8:g.92441601T>C	(Likely) benign	1 lab	f34beb5d25
13:36220051 NBEA A>G	13	36220051	36220051	A	G	NBEA	c.7663A>G	NM_001385012.1	NP_001371941.1:p.(Thr2555Ala)	NC_000013.10:g.36220051A>G	VUS	1 lab	f34cb78243
19:35753562 LSR T>C	19	35753562	35753562	T	C	LSR	c.745T>C	NM_205834.4	NP_991403.2:p.(Cys249Arg)	NC_000019.9:g.35753562T>C	VUS	1 lab	f34d250386
1:225521188 DNAH14 G>C	1	225521188	225521188	G	C	DNAH14	c.10060G>C	NM_001367479.1	NP_001354408.1:p.(Val3354Leu)	NC_000001.10:g.225521188G>C	(Likely) benign	1 lab	f34e74ade7
X:71354553 NHSL2 T>C	X	71354553	71354553	T	C	NHSL2	c.759T>C	NM_001013627.3	NP_001013649.2:p.(Ser253=)	NC_000023.10:g.71354553T>C	VUS	1 lab	f34e971864
6:35213008 SCUBE3 G>A	6	35213008	35213008	G	A	SCUBE3	c.2405G>A	NM_152753.4	NP_689966.2:p.(Arg802His)	NC_000006.11:g.35213008G>A	VUS	1 lab	f34eb16a88
12:79693303 SYT1 G>A	12	79693303	79693303	G	A	SYT1	c.782G>A	NM_005639.3	NP_005630.1:p.(Arg261His)	NC_000012.11:g.79693303G>A	VUS	1 lab	f34f9cb300
X:119054466 AKAP14 T>G	X	119054466	119054466	T	G	AKAP14	c.495-5T>G	NM_178813.6	NP_848928.1:p.?	NC_000023.10:g.119054466T>G	VUS	1 lab	f350a43766
14:92470616 TRIP11 A>G	14	92470616	92470616	A	G	TRIP11	c.3704T>C	NM_004239.4	NP_004230.2:p.(Met1235Thr)	NC_000014.8:g.92470616A>G	VUS	1 lab	f351056fab
17:8132206 CTC1 G>A	17	8132206	8132206	G	A	CTC1	c.3226C>T	NM_025099.6	NP_079375.3:p.(Leu1076=)	NC_000017.10:g.8132206G>A	(Likely) benign	1 lab	f35187b431
15:78780574 IREB2 G>A	15	78780574	78780574	G	A	IREB2	c.1847G>A	NM_004136.4	NP_004127.2:p.(Arg616His)	NC_000015.9:g.78780574G>A	VUS	1 lab	f3519b841c
4:13597516 BOD1L1 T>C	4	13597516	13597516	T	C	BOD1L1	c.8072A>G	NM_148894.3	NP_683692.2:p.(Glu2691Gly)	NC_000004.11:g.13597516T>C	(Likely) benign	1 lab	f35343cb15
X:48932790 WDR45 CT>C	X	48932790	48932791	CT	C	WDR45	c.973+4del	NM_001029896.2	NP_001025067.1:p.?	NC_000023.10:g.48932791del	(Likely) pathogenic	1 lab	f35466e6c5
11:694914 DEAF1 T>C	11	694914	694914	T	C	DEAF1	c.134A>G	NM_021008.4	NP_066288.2:p.(Asp45Gly)	NC_000011.9:g.694914T>C	VUS	1 lab	f35605bfd7
20:47887349 ZNFX1 G>A	20	47887349	47887349	G	A	ZNFX1	c.1000C>T	NM_021035.3	NP_066363.1:p.(Arg334Ter)	NC_000020.10:g.47887349G>A	(Likely) pathogenic	1 lab	f356b06367
20:3209072 SLC4A11 A>C	20	3209072	3209072	A	C	SLC4A11	c.2391T>G	NM_001174089.2	NP_001167560.1:p.(Thr797=)	NC_000020.10:g.3209072A>C	(Likely) benign	1 lab	f357825f5f
10:64946050 JMJD1C G>C	10	64946050	64946050	G	C	JMJD1C	c.6664C>G	NM_032776.3	NP_116165.1:p.(Leu2222Val)	NC_000010.10:g.64946050G>C	(Likely) benign	1 lab	f3581bb8d0
2:128396955 LIMS2 G>C	2	128396955	128396955	G	C	LIMS2	c.927C>G	NM_001161403.3	NP_001154875.1:p.(Tyr309Ter)	NC_000002.11:g.128396955G>C	VUS	1 lab	f3591da69c
2:209103921 IDH1 C>CTTTAT	2	209103921	209103923	C	CTTTAT	IDH1	c.1027_1028insATAAA	NM_005896.4	NP_005887.2:p.(Arg343AsnfsTer32)	NC_000002.11:g.209103922_209103923insTTATT	VUS	1 lab	f3599c43be
10:73330617 CDH23 T>G	10	73330617	73330617	T	G	CDH23	c.695T>G	NM_022124.6	NP_071407.4:p.(Met232Arg)	NC_000010.10:g.73330617T>G	VUS	1 lab	f35b0721e3
X:53966800 PHF8 TGAG>T	X	53966800	53966810	TGAG	T	PHF8	c.2796_2798del	NM_015107.3	NP_055922.1:p.(Ser933del)	NC_000023.10:g.53966808_53966810del	(Likely) benign	1 lab	f362657091
5:71491435 MAP1B A>C	5	71491435	71491435	A	C	MAP1B	c.2253A>C	NM_005909.5	NP_005900.2:p.(Lys751Asn)	NC_000005.9:g.71491435A>C	VUS	1 lab	f3628b0823
17:73625509 RECQL5 G>A	17	73625509	73625509	G	A	RECQL5	c.1994C>T	NM_004259.7	NP_004250.4:p.(Pro665Leu)	NC_000017.10:g.73625509G>A	(Likely) benign	1 lab	f3638fe2bf
17:48141666 ITGA3 C>T	17	48141666	48141666	C	T	ITGA3	c.334+98C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48141666C>T	(Likely) benign	1 lab	312f047492
6:72006390 OGFRL1 AAAG>A	6	72006390	72006396	AAAG	A	OGFRL1	c.566_568del	NM_024576.5	NP_078852.3:p.(Glu189del)	NC_000006.11:g.72006394_72006396del	VUS	1 lab	f36844210f
4:3076660 HTT G>GCAA	4	3076660	3076665	G	GCAA	HTT	c.111_113dup	NM_001388492.1	NP_001375421.1:p.(Gln38dup)	NC_000004.11:g.3076663_3076665dup	VUS	1 lab	f3692bf6ba
1:8415322 RERE C>T	1	8415322	8415322	C	T	RERE	c.4668-142G>A	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8415322C>T	(Likely) benign	1 lab	f3693476f3
8:145739026 RECQL4 C>T	8	145739026	145739026	C	T	RECQL4	c.2129G>A	NM_004260.4	NP_004251.4:p.(Arg710His)	NC_000008.10:g.145739026C>T	VUS	1 lab	f369c61c7e
14:63175011 KCNH5 C>T	14	63175011	63175011	C	T	KCNH5	c.2182G>A	NM_139318.5	NP_647479.2:p.(Asp728Asn)	NC_000014.8:g.63175011C>T	VUS	1 lab	f36e59954e
1:17764826 RCC2 G>A	1	17764826	17764826	G	A	RCC2	c.185C>T	NM_018715.4	NP_061185.1:p.(Ala62Val)	NC_000001.10:g.17764826G>A	(Likely) benign	1 lab	f36ed6db2f
5:126156662 LMNB1 T>C	5	126156662	126156662	T	C	LMNB1	c.1221T>C	NM_005573.4	NP_005564.1:p.(Arg407=)	NC_000005.9:g.126156662T>C	(Likely) benign	1 lab	f3705495c0
17:18082164 MYO15A A>G	17	18082164	18082164	A	G	MYO15A	c.10573A>G	NM_016239.4	NP_057323.3:p.(Ser3525Gly)	NC_000017.10:g.18082164A>G	(Likely) benign	1 lab	f370af0291
9:137694768 COL5A1 G>A	9	137694768	137694768	G	A	COL5A1	c.3041G>A	NM_000093.4	NP_000084.3:p.(Arg1014His)	NC_000009.11:g.137694768G>A	VUS	1 lab	312f816fac
1:120295304 HMGCS2 A>G	1	120295304	120295304	A	G	HMGCS2	c.1295-7T>C	NM_005518.4	NP_005509.1:p.?	NC_000001.10:g.120295304A>G	(Likely) benign	1 lab	f372546e1c
5:131721097 SLC22A5 A>G	5	131721097	131721097	A	G	SLC22A5	c.730A>G	NM_003060.4	NP_003051.1:p.(Met244Val)	NC_000005.9:g.131721097A>G	VUS	1 lab	f373e68bcf
7:139717566 TBXAS1 T>C	7	139717566	139717566	T	C	TBXAS1	c.1460T>C	NM_001061.7	NP_001052.3:p.(Leu487Pro)	NC_000007.13:g.139717566T>C	VUS	1 lab	f374defe4b
2:50724451 NRXN1 T>C	2	50724451	50724451	T	C	NRXN1	c.2879+20A>G	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50724451T>C	(Likely) benign	1 lab	312fc9e863
7:21789371 DNAH11 G>GT	7	21789371	21789373	G	GT	DNAH11	c.8751dup	NM_001277115.2	NP_001264044.1:p.(Leu2918SerfsTer3)	NC_000007.13:g.21789373dup	VUS	1 lab	f375f68475
13:32913479 BRCA2 G>A	13	32913479	32913479	G	A	BRCA2	c.4987G>A	NM_000059.4	NP_000050.3:p.(Val1663Ile)	NC_000013.10:g.32913479G>A	(Likely) benign	1 lab	f376001610
X:591755 SHOX C>T	X	591755	591755	C	T	SHOX	c.123C>T	NM_000451.3	NP_000442.1:p.(Ser41=)	NC_000023.10:g.591755C>T	(Likely) benign	1 lab	f37673f5a7
15:99500492 IGF1R G>A	15	99500492	99500492	G	A	IGF1R	c.3925G>A	NM_000875.5	NP_000866.1:p.(Ala1309Thr)	NC_000015.9:g.99500492G>A	(Likely) benign	1 lab	f3767b3226
8:41519027 ANK1 G>A	8	41519027	41519027	G	A	ANK1	c.5600C>T	NM_000037.4	NP_000028.3:p.(Ala1867Val)	NC_000008.10:g.41519027G>A	VUS	1 lab	f376806364
4:3495119 DOK7 C>A	4	3495119	3495119	C	A	DOK7	c.1406C>A	NM_173660.5	NP_775931.3:p.(Pro469His)	NC_000004.11:g.3495119C>A	(Likely) benign	1 lab	f377251f40
14:59112952 DACT1 C>G	14	59112952	59112952	C	G	DACT1	c.1611C>G	NM_016651.6	NP_057735.2:p.(Ala537=)	NC_000014.8:g.59112952C>G	(Likely) benign	1 lab	3772a6f986
7:42012171 GLI3 G>T	7	42012171	42012171	G	T	GLI3	c.1868C>A	NM_000168.6	NP_000159.3:p.(Ser623Tyr)	NC_000007.13:g.42012171G>T	VUS	1 lab	f3791becbf
X:8434254 VCX3B GA>G	X	8434254	8434256	GA	G	VCX3B	c.573del	NM_001001888.4	NP_001001888.3:p.(Glu192AsnfsTer3)	NC_000023.10:g.8434256del	VUS	1 lab	f37bdbd2fd
1:237666801 RYR2 G>T	1	237666801	237666801	G	T	RYR2	c.2609G>T	NM_001035.3	NP_001026.2:p.(Ser870Ile)	NC_000001.10:g.237666801G>T	VUS	1 lab	f37c7999c8
1:22204947 HSPG2 C>T	1	22204947	22204947	C	T	HSPG2	c.2596G>A	NM_005529.7	NP_005520.4:p.(Gly866Ser)	NC_000001.10:g.22204947C>T	(Likely) benign	1 lab	f37cdef1e3
X:19041578 ADGRG2 C>T	X	19041578	19041578	C	T	ADGRG2	c.511-7G>A	NM_001079858.3	NP_001073327.1:p.?	NC_000023.10:g.19041578C>T	(Likely) benign	1 lab	f37ce99034
11:2939269 SLC67A1 G>A	11	2939269	2939269	G	A	SLC67A1	c.707G>A	NM_002555.6	NP_002546.3:p.(Arg236Gln)	NC_000011.9:g.2939269G>A	VUS	1 lab	f37d64e8f0
6:157511162 ARID1B C>T	6	157511162	157511162	C	T	ARID1B	c.4059-10C>T	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157511162C>T	(Likely) benign	1 lab	f37d744074
3:37059081 MLH1 T>C	3	37059081	37059081	T	C	MLH1	c.875T>C	NM_000249.4	NP_000240.1:p.(Leu292Pro)	NC_000003.11:g.37059081T>C	(Likely) pathogenic	1 lab	f37d7a9f1c
17:76449440 DNAH17 G>A	17	76449440	76449440	G	A	DNAH17	c.10514C>T	NM_173628.4	NP_775899.3:p.(Thr3505Met)	NC_000017.10:g.76449440G>A	VUS	1 lab	d9b466383f
14:105617440 JAG2 G>T	14	105617440	105617440	G	T	JAG2	c.1269C>A	NM_002226.5	NP_002217.3:p.(Asp423Glu)	NC_000014.8:g.105617440G>T	VUS	1 lab	f37fbb6731
9:35802819 NPR2 T>C	9	35802819	35802819	T	C	NPR2	c.1887+19T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802819T>C	(Likely) benign	1 lab	f37ffa3bf8
1:156107481 LMNA G>A	1	156107481	156107481	G	A	LMNA	c.1645G>A	NM_170707.4	NP_733821.1:p.(Val549Met)	NC_000001.10:g.156107481G>A	(Likely) benign	1 lab	f3824a961f
4:170323012 NEK1 C>A	4	170323012	170323012	C	A	NEK1	c.3375-1G>T	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170323012C>A	VUS	1 lab	f383e748d2
2:233194558 DIS3L2 C>T	2	233194558	233194558	C	T	DIS3L2	c.1775C>T	NM_152383.5	NP_689596.4:p.(Ala592Val)	NC_000002.11:g.233194558C>T	VUS	1 lab	f38482219c
3:49463413 NICN1 G>A	3	49463413	49463413	G	A	NICN1	c.326C>T	NM_032316.3	NP_115692.1:p.(Ala109Val)	NC_000003.11:g.49463413G>A	VUS	1 lab	f3849858ff
10:81064899 ZMIZ1 GTGTC>G	10	81064899	81064917	GTGTC	G	ZMIZ1	c.2287-7_2287-4del	NM_020338.4	NP_065071.1:p.?	NC_000010.10:g.81064914_81064917del	(Likely) benign	1 lab	f386f7adfe
X:106016317 RNF128 C>T	X	106016317	106016317	C	T	RNF128	c.659C>T	NM_194463.2	NP_919445.1:p.(Ala220Val)	NC_000023.10:g.106016317C>T	(Likely) benign	1 lab	f3870b3a7a
3:4681144 ITPR1 A>G	3	4681144	4681144	A	G	ITPR1	c.356A>G	NM_001378452.1	NP_001365381.1:p.(Asn119Ser)	NC_000003.11:g.4681144A>G	VUS	1 lab	f389c17ef4
12:111731376 CUX2 G>A	12	111731376	111731376	G	A	CUX2	c.560+3G>A	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111731376G>A	(Likely) benign	1 lab	f389e0f57f
1:120484300 NOTCH2 C>A	1	120484300	120484300	C	A	NOTCH2	c.2830G>T	NM_024408.4	NP_077719.2:p.(Asp944Tyr)	NC_000001.10:g.120484300C>A	(Likely) benign	1 lab	f38b52e7bf
13:52524411 ATP7B T>C	13	52524411	52524411	T	C	ATP7B	c.2572A>G	NM_000053.4	NP_000044.2:p.(Thr858Ala)	NC_000013.10:g.52524411T>C	VUS	1 lab	f38b6d4dd9
2:152354238 NEB C>CTTA	2	152354238	152354239	C	CTTA	NEB	c.24208-7_24208-6insTAA	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152354238_152354239insTTA	VUS	1 lab	f38c49a2d7
10:90697838 ACTA2 G>A	10	90697838	90697838	G	A	ACTA2	c.970C>T	NM_001613.4	NP_001604.1:p.(Pro324Ser)	NC_000010.10:g.90697838G>A	VUS	1 lab	f38d25fb0a
18:43460075 EPG5 GA>G	18	43460075	43460077	GA	G	EPG5	c.5631del	NM_020964.3	NP_066015.2:p.(Ser1879AlafsTer12)	NC_000018.9:g.43460077del	VUS	1 lab	f38efdb290
1:183192290 LAMC2 C>T	1	183192290	183192290	C	T	LAMC2	c.784C>T	NM_005562.3	NP_005553.2:p.(Gln262Ter)	NC_000001.10:g.183192290C>T	VUS	1 lab	f3a2cb85bf
13:21736016 SKA3 T>TTTTATTATTCCTC	13	21736016	21736017	T	TTTTATTATTCCTC	SKA3	c.744-3_744-2insGAGGAATAATAAA	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21736016_21736017insTTTATTATTCCTC	(Likely) benign	1 lab	f3910b1016
9:140008690 DPP7 C>T	9	140008690	140008690	C	T	DPP7	c.321+5G>A	NM_013379.3	NP_037511.2:p.?	NC_000009.11:g.140008690C>T	VUS	1 lab	f391405501
19:36394270 HCST A>G	19	36394270	36394270	A	G	HCST	c.61A>G	NM_014266.4	NP_055081.1:p.(Thr21Ala)	NC_000019.9:g.36394270A>G	VUS	1 lab	f392c96372
5:176721418 NSD1 T>C	5	176721418	176721418	T	C	NSD1	c.7049T>C	NM_022455.5	NP_071900.2:p.(Leu2350Pro)	NC_000005.9:g.176721418T>C	VUS	1 lab	f393172691
2:170033072 LRP2 C>T	2	170033072	170033072	C	T	LRP2	c.10420G>A	NM_004525.3	NP_004516.2:p.(Gly3474Ser)	NC_000002.11:g.170033072C>T	VUS	1 lab	f394808e5c
19:11686003 ACP5 GA>G	19	11686003	11686004	GA	G	ACP5	c.799del	NM_001611.5	NP_001602.1:p.(Ser267GlnfsTer36)	NC_000019.9:g.11686004del	(Likely) pathogenic	1 lab	f3952c67d1
2:234235749 SAG G>C	2	234235749	234235749	G	C	SAG	c.436-18G>C	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234235749G>C	(Likely) benign	1 lab	d9b5aa963c
4:151772068 LRBA T>G	4	151772068	151772068	T	G	LRBA	c.3826-14A>C	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151772068T>G	(Likely) benign	1 lab	313bbce03c
11:62490336 HNRNPUL2 C>T	11	62490336	62490336	C	T	HNRNPUL2	c.931G>A	NM_001079559.3	NP_001073027.1:p.(Val311Ile)	NC_000011.9:g.62490336C>T	(Likely) benign	1 lab	f398014d24
14:68229094 ZFYVE26 C>T	14	68229094	68229094	C	T	ZFYVE26	c.6195G>A	NM_015346.4	NP_056161.2:p.(Ala2065=)	NC_000014.8:g.68229094C>T	(Likely) benign	1 lab	f399bb53d8
6:152674718 SYNE1 A>G	6	152674718	152674718	A	G	SYNE1	c.11082+6T>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152674718A>G	VUS	1 lab	f39aac77c4
8:145542120 DGAT1 G>A	8	145542120	145542120	G	A	DGAT1	c.574+4C>T	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145542120G>A	(Likely) benign	1 lab	f39d06a8b1
17:7751765 KDM6B C>G	17	7751765	7751765	C	G	KDM6B	c.2159C>G	NM_001348716.2	NP_001335645.1:p.(Ala720Gly)	NC_000017.10:g.7751765C>G	VUS	1 lab	f39e167635
7:150761675 SLC4A2 C>T	7	150761675	150761675	C	T	SLC4A2	c.280C>T	NM_003040.4	NP_003031.3:p.(Arg94Cys)	NC_000007.13:g.150761675C>T	(Likely) benign	1 lab	f39e593f57
1:22213994 HSPG2 G>A	1	22213994	22213994	G	A	HSPG2	c.877C>T	NM_005529.7	NP_005520.4:p.(Arg293Cys)	NC_000001.10:g.22213994G>A	VUS	1 lab	f39ea74e19
4:100470441 TRMT10A C>T	4	100470441	100470441	C	T	TRMT10A	c.824G>A	NM_001134665.3	NP_001128137.1:p.(Arg275Gln)	NC_000004.11:g.100470441C>T	VUS	1 lab	f3a08cb0fb
9:13224399 MPDZ C>T	9	13224399	13224399	C	T	MPDZ	c.367G>A	NM_001378778.1	NP_001365707.1:p.(Asp123Asn)	NC_000009.11:g.13224399C>T	(Likely) benign	1 lab	f3a2d1a2c9
4:88537151 DSPP G>A	4	88537151	88537151	G	A	DSPP	c.3337G>A	NM_014208.3	NP_055023.2:p.(Asp1113Asn)	NC_000004.11:g.88537151G>A	VUS	1 lab	f3a3113636
9:87342596 NTRK2 C>T	9	87342596	87342596	C	T	NTRK2	c.881C>T	NM_006180.6	NP_006171.2:p.(Ser294Phe)	NC_000009.11:g.87342596C>T	VUS	1 lab	f3a35e75bd
2:238269792 COL6A3 C>T	2	238269792	238269792	C	T	COL6A3	c.6182G>A	NM_004369.4	NP_004360.2:p.(Arg2061Gln)	NC_000002.11:g.238269792C>T	VUS	1 lab	f3a54e2a51
12:122252126 SETD1B G>A	12	122252126	122252126	G	A	SETD1B	c.2005G>A	NM_001353345.2	NP_001340274.1:p.(Val669Met)	NC_000012.11:g.122252126G>A	(Likely) benign	1 lab	f3a5900712
1:52861732 ORC1 CT>C	1	52861732	52861733	CT	C	ORC1	c.706del	NM_004153.4	NP_004144.2:p.(Arg236GlyfsTer7)	NC_000001.10:g.52861733del	VUS	1 lab	f3a61dfe31
12:110240891 TRPV4 C>T	12	110240891	110240891	C	T	TRPV4	c.617G>A	NM_021625.5	NP_067638.3:p.(Arg206His)	NC_000012.11:g.110240891C>T	(Likely) benign	1 lab	f3a77f507d
19:42840285 MEGF8 A>G	19	42840285	42840285	A	G	MEGF8	c.1031A>G	NM_001271938.2	NP_001258867.1:p.(Asp344Gly)	NC_000019.9:g.42840285A>G	VUS	1 lab	f3a99725ea
1:153631613 SNAPIN G>A	1	153631613	153631613	G	A	SNAPIN	c.144-1G>A	NM_012437.6	NP_036569.1:p.?	NC_000001.10:g.153631613G>A	VUS	1 lab	f3aad94423
19:22363630 ZNF676 T>C	19	22363630	22363630	T	C	ZNF676	c.889A>G	NM_001001411.3	NP_001001411.2:p.(Met297Val)	NC_000019.9:g.22363630T>C	(Likely) benign	1 lab	f3ab82780f
5:78280950 ARSB GCCCCGGCGC>G	5	78280950	78280961	GCCCCGGCGC	G	ARSB	c.113_121del	NM_000046.5	NP_000037.2:p.(Gly38_Gly40del)	NC_000005.9:g.78280953_78280961del	(Likely) benign	1 lab	f3ad7de1a1
15:89386723 ACAN G>A	15	89386723	89386723	G	A	ACAN	c.895G>A	NM_001369268.1	NP_001356197.1:p.(Ala299Thr)	NC_000015.9:g.89386723G>A	(Likely) benign	1 lab	f3add88f99
2:42282532 PKDCC C>CGGTG	2	42282532	42282536	C	CGGTG	PKDCC	c.1222_1222+3dup	NM_138370.3	NP_612379.2:p.?	NC_000002.11:g.42282533_42282536dup	VUS	1 lab	f3adf22898
5:33643548 ADAMTS12 C>T	5	33643548	33643548	C	T	ADAMTS12	c.1507G>A	NM_030955.4	NP_112217.2:p.(Val503Met)	NC_000005.9:g.33643548C>T	VUS	1 lab	f3b0a0a02b
3:46003774 FYCO1 A>G	3	46003774	46003774	A	G	FYCO1	c.3380T>C	NM_024513.4	NP_078789.2:p.(Leu1127Pro)	NC_000003.11:g.46003774A>G	VUS	1 lab	f3b2f5a455
21:37618346 DOP1B G>A	21	37618346	37618346	G	A	DOP1B	c.4068G>A	NM_001320714.2	NP_001307643.1:p.(Met1356Ile)	NC_000021.8:g.37618346G>A	(Likely) benign	1 lab	f3b3d63ef5
6:125283778 RNF217 C>A	6	125283778	125283778	C	A	RNF217	c.88C>A	NM_001286398.3	NP_001273327.1:p.(Pro30Thr)	NC_000006.11:g.125283778C>A	(Likely) benign	1 lab	f3b4bff66c
X:50653964 BMP15 C>T	X	50653964	50653964	C	T	BMP15	c.181C>T	NM_005448.2	NP_005439.2:p.(Arg61Trp)	NC_000023.10:g.50653964C>T	(Likely) benign	1 lab	f3b4f21051
13:32912714 BRCA2 C>T	13	32912714	32912714	C	T	BRCA2	c.4222C>T	NM_000059.4	NP_000050.3:p.(Gln1408Ter)	NC_000013.10:g.32912714C>T	(Likely) pathogenic	1 lab	f3b5698c99
4:2835541 SH3BP2 G>A	4	2835541	2835541	G	A	SH3BP2	c.1666G>A	NM_001122681.2	NP_001116153.1:p.(Gly556Ser)	NC_000004.11:g.2835541G>A	VUS	1 lab	f3b5aa4f0b
1:153665650 NPR1 C>T	1	153665650	153665650	C	T	NPR1	c.3100C>T	NM_000906.4	NP_000897.3:p.(Leu1034Phe)	NC_000001.10:g.153665650C>T	(Likely) benign	1 lab	f3b9179bc4
3:58095400 FLNB C>T	3	58095400	58095400	C	T	FLNB	c.2297C>T	NM_001457.4	NP_001448.2:p.(Thr766Met)	NC_000003.11:g.58095400C>T	VUS	1 lab	f3ba2088a3
17:40939907 WNK4 G>T	17	40939907	40939907	G	T	WNK4	c.1853G>T	NM_032387.5	NP_115763.2:p.(Cys618Phe)	NC_000017.10:g.40939907G>T	(Likely) benign	1 lab	313e3ba8b3
14:96998990 PAPOLA T>G	14	96998990	96998990	T	G	PAPOLA	c.836+4T>G	NM_032632.5	NP_116021.2:p.?	NC_000014.8:g.96998990T>G	VUS	1 lab	f3bdeb5fa1
17:40359681 STAT5B C>T	17	40359681	40359681	C	T	STAT5B	c.1972G>A	NM_012448.4	NP_036580.2:p.(Asp658Asn)	NC_000017.10:g.40359681C>T	VUS	1 lab	f3be70857c
11:124624551 ESAM A>G	11	124624551	124624551	A	G	ESAM	c.716T>C	NM_138961.3	NP_620411.2:p.(Leu239Pro)	NC_000011.9:g.124624551A>G	VUS	1 lab	f3be939c27
5:32088077 PDZD2 A>C	5	32088077	32088077	A	C	PDZD2	c.4523A>C	NM_178140.4	NP_835260.2:p.(Asn1508Thr)	NC_000005.9:g.32088077A>C	(Likely) benign	1 lab	f3bee4c706
9:34552073 CNTFR T>C	9	34552073	34552073	T	C	CNTFR	c.1119-4A>G	NM_147164.3	NP_671693.1:p.?	NC_000009.11:g.34552073T>C	VUS	1 lab	f3c0be94c1
2:179485472 TTN C>T	2	179485472	179485472	C	T	TTN	c.45865G>A	NM_001267550.2	NP_001254479.2:p.(Val15289Ile)	NC_000002.11:g.179485472C>T	VUS	1 lab	f3c1135886
21:47566240 FTCD A>G	21	47566240	47566240	A	G	FTCD	c.908T>C	NM_206965.2	NP_996848.1:p.(Val303Ala)	NC_000021.8:g.47566240A>G	VUS	1 lab	f3c22fdb46
1:154561852 ADAR A>G	1	154561852	154561852	A	G	ADAR	c.2755T>C	NM_001111.5	NP_001102.3:p.(Phe919Leu)	NC_000001.10:g.154561852A>G	(Likely) benign	1 lab	f3c2819d14
10:50943404 OGDHL G>A	10	50943404	50943404	G	A	OGDHL	c.2910-7C>T	NM_018245.3	NP_060715.2:p.?	NC_000010.10:g.50943404G>A	(Likely) benign	1 lab	f3c306807b
1:176709189 PAPPA2 C>G	1	176709189	176709189	C	G	PAPPA2	c.4008C>G	NM_020318.3	NP_064714.2:p.(His1336Gln)	NC_000001.10:g.176709189C>G	(Likely) benign	1 lab	f3c3dbee37
16:11479162 MISSING G>A	16	11479162	11479162	G	A	MISSING				NC_000016.9:g.11479162G>A	VUS	1 lab	f3c6590c64
1:144915561 PDE4DIP G>A	1	144915561	144915561	G	A	PDE4DIP	c.2062C>T	NM_001395426.1	NP_001382355.1:p.(Arg688Ter)	NC_000001.10:g.144915561G>A	VUS	1 lab	f3c6be6b34
2:179425063 TTN C>T	2	179425063	179425063	C	T	TTN	c.85796G>A	NM_001267550.2	NP_001254479.2:p.(Arg28599His)	NC_000002.11:g.179425063C>T	VUS	1 lab	f3c71212b0
X:54956848 TRO G>A	X	54956848	54956848	G	A	TRO	c.3691G>A	NM_001039705.3	NP_001034794.1:p.(Gly1231Ser)	NC_000023.10:g.54956848G>A	(Likely) benign	1 lab	f3c73ab015
7:69064751 AUTS2 G>T	7	69064751	69064751	G	T	AUTS2	c.112G>T	NM_015570.4	NP_056385.1:p.(Gly38Cys)	NC_000007.13:g.69064751G>T	VUS	1 lab	f3c7665e3d
2:179912122 CCDC141 C>A	2	179912122	179912122	C	A	CCDC141	c.114G>T	NM_173648.4	NP_775919.3:p.(Trp38Cys)	NC_000002.11:g.179912122C>A	VUS	1 lab	f3c81987ff
12:56557523 SMARCC2 G>A	12	56557523	56557523	G	A	SMARCC2	c.3688C>T	NM_001330288.2	NP_001317217.1:p.(Pro1230Ser)	NC_000012.11:g.56557523G>A	VUS	1 lab	2e6b2a174d
22:38539282 PLA2G6 C>T	22	38539282	38539282	C	T	PLA2G6	c.439G>A	NM_003560.4	NP_003551.2:p.(Ala147Thr)	NC_000022.10:g.38539282C>T	VUS	1 lab	f3c9be3d15
6:117215153 RFX6 T>A	6	117215153	117215153	T	A	RFX6	c.570T>A	NM_173560.4	NP_775831.2:p.(Tyr190Ter)	NC_000006.11:g.117215153T>A	(Likely) pathogenic	1 lab	f3cc43b76e
17:15961779 NCOR1 A>G	17	15961779	15961779	A	G	NCOR1	c.6010+6T>C	NM_006311.4	NP_006302.2:p.?	NC_000017.10:g.15961779A>G	(Likely) benign	1 lab	f3cdcb4577
4:88537450 DSPP C>A	4	88537450	88537450	C	A	DSPP	c.3636C>A	NM_014208.3	NP_055023.2:p.(Asp1212Glu)	NC_000004.11:g.88537450C>A	(Likely) benign	1 lab	f3cf0d3f22
16:72991395 ZFHX3 C>G	16	72991395	72991395	C	G	ZFHX3	c.2650G>C	NM_006885.4	NP_008816.3:p.(Ala884Pro)	NC_000016.9:g.72991395C>G	VUS	1 lab	f3cfc4cfea
9:135946638 CEL G>C	9	135946638	135946638	G	C	CEL	c.1749G>C	NM_001807.6	NP_001798.3:p.(Pro583=)	NC_000009.11:g.135946638G>C	(Likely) benign	1 lab	f3d093fa8c
X:47836621 ZNF182 G>A	X	47836621	47836621	G	A	ZNF182	c.808C>T	NM_001007088.2	NP_001007089.1:p.(Pro270Ser)	NC_000023.10:g.47836621G>A	VUS	1 lab	f3d0c5560d
2:49190692 FSHR A>G	2	49190692	49190692	A	G	FSHR	c.1268T>C	NM_000145.4	NP_000136.2:p.(Ile423Thr)	NC_000002.11:g.49190692A>G	(Likely) pathogenic	1 lab	f3d165e8c9
16:30736275 SRCAP T>C	16	30736275	30736275	T	C	SRCAP	c.5530T>C	NM_006662.3	NP_006653.2:p.(Ser1844Pro)	NC_000016.9:g.30736275T>C	(Likely) benign	1 lab	f3d3192279
3:111356092 CD96 A>G	3	111356092	111356092	A	G	CD96	c.1371A>G	NM_005816.5	NP_005807.1:p.(Ala457=)	NC_000003.11:g.111356092A>G	(Likely) benign	1 lab	f3d495ad79
2:232577547 PTMA G>A	2	232577547	232577547	G	A	PTMA	c.319G>A	NM_002823.5	NP_002814.3:p.(Asp107Asn)	NC_000002.11:g.232577547G>A	VUS	1 lab	f3d4c95acd
19:11135110 SMARCA4 A>G	19	11135110	11135110	A	G	SMARCA4	c.3077A>G	NM_003072.5	NP_003063.2:p.(Lys1026Arg)	NC_000019.9:g.11135110A>G	VUS	1 lab	f3d650a74b
11:103092866 DYNC2H1 G>A	11	103092866	103092866	G	A	DYNC2H1	c.9215G>A	NM_001377.3	NP_001368.2:p.(Gly3072Asp)	NC_000011.9:g.103092866G>A	(Likely) benign	1 lab	f3d720f2bf
12:102147140 GNPTAB G>A	12	102147140	102147140	G	A	GNPTAB	c.3602+10C>T	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102147140G>A	(Likely) benign	1 lab	f3d7a439e2
4:6293106 WFS1 C>T	4	6293106	6293106	C	T	WFS1	c.631+12C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293106C>T	(Likely) benign	1 lab	f3d833e192
15:33952417 RYR3 C>T	15	33952417	33952417	C	T	RYR3	c.4415C>T	NM_001036.6	NP_001027.3:p.(Ala1472Val)	NC_000015.9:g.33952417C>T	VUS	1 lab	f3d87f47df
17:33875273 SLFN14 C>T	17	33875273	33875273	C	T	SLFN14	c.2724G>A	NM_001129820.2	NP_001123292.1:p.(Lys908=)	NC_000017.10:g.33875273C>T	(Likely) benign	1 lab	373c732ce9
14:31570536 HECTD1 A>G	14	31570536	31570536	A	G	HECTD1	c.7551-6T>C	NM_015382.4	NP_056197.3:p.?	NC_000014.8:g.31570536A>G	VUS	1 lab	f3daf127fe
5:127641275 FBN2 T>A	5	127641275	127641275	T	A	FBN2	c.5602A>T	NM_001999.4	NP_001990.2:p.(Ile1868Phe)	NC_000005.9:g.127641275T>A	(Likely) benign	1 lab	f3db2b5e69
5:161580153 GABRG2 A>G	5	161580153	161580153	A	G	GABRG2	c.1207A>G	NM_198904.4	NP_944494.1:p.(Thr403Ala)	NC_000005.9:g.161580153A>G	(Likely) benign	1 lab	f3db835e71
3:49027853 P4HTM T>A	3	49027853	49027853	T	A	P4HTM	c.164T>A	NM_177939.3	NP_808808.1:p.(Ile55Asn)	NC_000003.11:g.49027853T>A	VUS	1 lab	f3dbcf7f83
1:120480621 NOTCH2 G>C	1	120480621	120480621	G	C	NOTCH2	c.3196C>G	NM_024408.4	NP_077719.2:p.(Leu1066Val)	NC_000001.10:g.120480621G>C	VUS	1 lab	f3dcb753ca
19:3633440 PIP5K1C C>T	19	3633440	3633440	C	T	PIP5K1C	c.1999G>A	NM_012398.3	NP_036530.1:p.(Asp667Asn)	NC_000019.9:g.3633440C>T	VUS	1 lab	f3de0204f2
6:131936485 MED23 G>C	6	131936485	131936485	G	C	MED23	c.876+562C>G	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131936485G>C	(Likely) benign	1 lab	f3dfde14d5
8:144904082 PUF60 C>A	8	144904082	144904082	C	A	PUF60	c.113G>T	NM_078480.3	NP_510965.1:p.(Gly38Val)	NC_000008.10:g.144904082C>A	VUS	1 lab	f3e0603a76
15:63918317 HERC1 G>A	15	63918317	63918317	G	A	HERC1	c.13142C>T	NM_003922.4	NP_003913.3:p.(Thr4381Ile)	NC_000015.9:g.63918317G>A	(Likely) benign	1 lab	f3e0652888
16:72830175 ZFHX3 G>A	16	72830175	72830175	G	A	ZFHX3	c.6406C>T	NM_006885.4	NP_008816.3:p.(Leu2136Phe)	NC_000016.9:g.72830175G>A	VUS	1 lab	f3e07de7b3
17:39346614 KRTAP9-1 G>A	17	39346614	39346614	G	A	KRTAP9-1	c.476G>A	NM_001190460.1	NP_001177389.1:p.(Cys159Tyr)	NC_000017.10:g.39346614G>A	VUS	1 lab	f3e194c27e
1:39906959 MACF1 G>T	1	39906959	39906959	G	T	MACF1	c.18634G>T	NM_001394062.1	NP_001380991.1:p.(Ala6212Ser)	NC_000001.10:g.39906959G>T	VUS	1 lab	f3e237d0cc
17:59934439 BRIP1 C>A	17	59934439	59934439	C	A	BRIP1	c.359G>T	NM_032043.3	NP_114432.2:p.(Gly120Val)	NC_000017.10:g.59934439C>A	(Likely) benign	1 lab	f3e45d9406
12:95656700 VEZT G>A	12	95656700	95656700	G	A	VEZT	c.277G>A	NM_017599.4	NP_060069.3:p.(Asp93Asn)	NC_000012.11:g.95656700G>A	VUS	1 lab	f3e5a3e615
1:17312786 ATP13A2 C>T	1	17312786	17312786	C	T	ATP13A2	c.3473G>A	NM_022089.4	NP_071372.1:p.(Arg1158His)	NC_000001.10:g.17312786C>T	(Likely) benign	1 lab	f3e5d9794c
16:17294451 XYLT1 G>A	16	17294451	17294451	G	A	XYLT1	c.974C>T	NM_022166.4	NP_071449.1:p.(Pro325Leu)	NC_000016.9:g.17294451G>A	VUS	1 lab	f3e6a38144
1:197112375 ASPM G>T	1	197112375	197112375	G	T	ASPM	c.1007C>A	NM_018136.5	NP_060606.3:p.(Thr336Lys)	NC_000001.10:g.197112375G>T	VUS	1 lab	f3e769e8d9
16:3827623 CREBBP C>T	16	3827623	3827623	C	T	CREBBP	c.2149G>A	NM_004380.3	NP_004371.2:p.(Val717Ile)	NC_000016.9:g.3827623C>T	VUS	1 lab	f3e8484788
6:90491173 MDN1 C>T	6	90491173	90491173	C	T	MDN1	c.1588G>A	NM_014611.3	NP_055426.1:p.(Glu530Lys)	NC_000006.11:g.90491173C>T	(Likely) benign	1 lab	f3ea4f44ab
2:152109282 RBM43 TGA>T	2	152109282	152109288	TGA	T	RBM43	c.300_301del	NM_198557.3	NP_940959.1:p.(His101PhefsTer3)	NC_000002.11:g.152109287_152109288del	VUS	1 lab	f3ea6cdb3c
9:139401848 NOTCH1 G>A	9	139401848	139401848	G	A	NOTCH1	c.3552C>T	NM_017617.5	NP_060087.3:p.(Ile1184=)	NC_000009.11:g.139401848G>A	(Likely) benign	1 lab	f3ec38b78c
19:50099258 PRR12 G>T	19	50099258	50099258	G	T	PRR12	c.1666G>T	NM_020719.3	NP_065770.1:p.(Gly556Cys)	NC_000019.9:g.50099258G>T	VUS	1 lab	2e758bf158
14:24540840 CPNE6 C>T	14	24540840	24540840	C	T	CPNE6	c.-15C>T	NM_006032.4	NP_006023.1:p.?	NC_000014.8:g.24540840C>T	VUS	1 lab	f3ee4ece53
13:78492395 EDNRB G>A	13	78492395	78492395	G	A	EDNRB	c.314C>T	NM_001122659.3	NP_001116131.1:p.(Thr105Met)	NC_000013.10:g.78492395G>A	VUS	1 lab	f3ef571423
10:121652437 SEC23IP C>T	10	121652437	121652437	C	T	SEC23IP	c.143C>T	NM_007190.4	NP_009121.1:p.(Ala48Val)	NC_000010.10:g.121652437C>T	VUS	1 lab	f3efe4c9cb
19:48183964 BICRA C>T	19	48183964	48183964	C	T	BICRA	c.1537C>T	NM_001394372.1	NP_001381301.1:p.(Pro513Ser)	NC_000019.9:g.48183964C>T	(Likely) benign	1 lab	f3f0039001
17:10550522 MYH3 G>C	17	10550522	10550522	G	C	MYH3	c.875C>G	NM_002470.4	NP_002461.2:p.(Ser292Cys)	NC_000017.10:g.10550522G>C	(Likely) benign	1 lab	f3f0e8e973
19:15852467 OR10H3 AC>A	19	15852467	15852470	AC	A	OR10H3	c.268del	NM_013938.2	NP_039226.1:p.(His90IlefsTer36)	NC_000019.9:g.15852470del	VUS	1 lab	f3f2982847
7:94049886 COL1A2 A>G	7	94049886	94049886	A	G	COL1A2	c.2221A>G	NM_000089.4	NP_000080.2:p.(Arg741Gly)	NC_000007.13:g.94049886A>G	VUS	1 lab	f3f500d0bb
17:73498187 CASKIN2 CA>C	17	73498187	73498188	CA	C	CASKIN2	c.2967del	NM_020753.5	NP_065804.2:p.(Val990LeufsTer130)	NC_000017.10:g.73498188del	VUS	1 lab	f3f6266521
12:2792023 CACNA1C A>AC	12	2792023	2792024	A	AC	CACNA1C	c.5573+179_5573+180insC	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2792023_2792024insC	(Likely) benign	1 lab	f3f62a19b4
3:119120866 ARHGAP31 G>C	3	119120866	119120866	G	C	ARHGAP31	c.1267G>C	NM_020754.4	NP_065805.2:p.(Ala423Pro)	NC_000003.11:g.119120866G>C	(Likely) benign	1 lab	f3f6658f46
12:7344254 PEX5 A>G	12	7344254	7344254	A	G	PEX5	c.406A>G	NM_001351132.2	NP_001338061.1:p.(Asn136Asp)	NC_000012.11:g.7344254A>G	VUS	1 lab	f3f9a3ec91
20:47247300 PREX1 G>A	20	47247300	47247300	G	A	PREX1	c.4559C>T	NM_020820.4	NP_065871.3:p.(Thr1520Met)	NC_000020.10:g.47247300G>A	VUS	1 lab	f3f9c96583
17:18161808 FLII C>T	17	18161808	18161808	C	T	FLII	c.-18G>A	NM_001256264.2	NP_001243193.1:p.?	NC_000017.10:g.18161808C>T	(Likely) benign	1 lab	d9b5eb69bb
16:30748869 SRCAP C>T	16	30748869	30748869	C	T	SRCAP	c.7508C>T	NM_006662.3	NP_006653.2:p.(Pro2503Leu)	NC_000016.9:g.30748869C>T	VUS	1 lab	f3fd57bc0a
10:115636367 NHLRC2 A>G	10	115636367	115636367	A	G	NHLRC2	c.419A>G	NM_198514.4	NP_940916.2:p.(Asn140Ser)	NC_000010.10:g.115636367A>G	VUS	1 lab	f3fdad816a
X:48895647 TFE3 A>C	X	48895647	48895647	A	C	TFE3	c.781-8T>G	NM_006521.6	NP_006512.2:p.?	NC_000023.10:g.48895647A>C	(Likely) benign	1 lab	f3ffef7ee5
22:51133246 SHANK3 G>A	22	51133246	51133246	G	A	SHANK3	c.1299G>A	NM_001372044.2	NP_001358973.1:p.(Leu433=)	NC_000022.10:g.51133246G>A	(Likely) benign	1 lab	f4018c9d1a
19:44169497 PLAUR C>T	19	44169497	44169497	C	T	PLAUR	c.281G>A	NM_002659.4	NP_002650.1:p.(Gly94Glu)	NC_000019.9:g.44169497C>T	VUS	1 lab	f403311a08
18:56182269 ALPK2 G>A	18	56182269	56182269	G	A	ALPK2	c.5985C>T	NM_052947.4	NP_443179.3:p.(Tyr1995=)	NC_000018.9:g.56182269G>A	VUS	1 lab	f403331e08
3:134270837 CEP63 G>GAATTGATGA	3	134270837	134270843	G	GAATTGATGA	CEP63	c.1455_1456insATGAAATTG	NM_001353108.3	NP_001340037.1:p.(Leu485_Gly486insMetLysLeu)	NC_000003.11:g.134270842_134270843insATGAAATTG	VUS	1 lab	f40403fceb
16:72992847 ZFHX3 G>A	16	72992847	72992847	G	A	ZFHX3	c.1198C>T	NM_006885.4	NP_008816.3:p.(Leu400=)	NC_000016.9:g.72992847G>A	(Likely) benign	1 lab	f404a83279
7:148506394 EZH2 G>A	7	148506394	148506394	G	A	EZH2	c.2110+8C>T	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148506394G>A	(Likely) benign	1 lab	f40615bfc4
15:34115281 RYR3 C>A	15	34115281	34115281	C	A	RYR3	c.11072+8C>A	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34115281C>A	(Likely) benign	1 lab	f40641ca1f
1:21889699 ALPL G>A	1	21889699	21889699	G	A	ALPL	c.394G>A	NM_000478.6	NP_000469.3:p.(Ala132Thr)	NC_000001.10:g.21889699G>A	VUS	1 lab	f407187fad
12:85623401 LRRIQ1 AACG>A	12	85623401	85623406	AACG	A	LRRIQ1	c.4932_4934del	NM_001079910.2	NP_001073379.1:p.(Thr1645del)	NC_000012.11:g.85623404_85623406del	VUS	1 lab	f40859dd9a
13:100623516 ZIC5 G>T	13	100623516	100623516	G	T	ZIC5	c.342C>A	NM_033132.5	NP_149123.3:p.(Cys114Ter)	NC_000013.10:g.100623516G>T	VUS	1 lab	f408a4d1fa
7:92731647 SAMD9 G>A	7	92731647	92731647	G	A	SAMD9	c.3764C>T	NM_017654.4	NP_060124.2:p.(Pro1255Leu)	NC_000007.13:g.92731647G>A	(Likely) benign	1 lab	f409b1b765
1:197112477 ASPM C>T	1	197112477	197112477	C	T	ASPM	c.905G>A	NM_018136.5	NP_060606.3:p.(Cys302Tyr)	NC_000001.10:g.197112477C>T	VUS	1 lab	f40a4ee74f
9:94486621 ROR2 C>T	9	94486621	94486621	C	T	ROR2	c.2155G>A	NM_004560.4	NP_004551.2:p.(Ala719Thr)	NC_000009.11:g.94486621C>T	VUS	1 lab	f40a824a51
6:35210459 SCUBE3 G>A	6	35210459	35210459	G	A	SCUBE3	c.1595G>A	NM_152753.4	NP_689966.2:p.(Arg532Gln)	NC_000006.11:g.35210459G>A	(Likely) benign	1 lab	f40b4cd737
10:131639306 EBF3 T>TCCCC	10	131639306	131639315	T	TCCCC	EBF3	c.1346-14_1346-11dup	NM_001005463.3	NP_001005463.1:p.?	NC_000010.10:g.131639312_131639315dup	(Likely) benign	1 lab	314828c584
10:61823987 ANK3 G>A	10	61823987	61823987	G	A	ANK3	c.12379C>T	NM_020987.5	NP_066267.2:p.(Pro4127Ser)	NC_000010.10:g.61823987G>A	VUS	1 lab	f410f23d63
2:109383976 RANBP2 AAA>TAT	2	109383976	109383978	AAA	TAT	RANBP2	c.6981_6983delinsTAT	NM_006267.5	NP_006258.3:p.(Glu2327_Asn2328delinsAspIle)	NC_000002.11:g.109383976_109383978delinsTAT	VUS	1 lab	f411ea3726
22:26168419 MYO18B C>G	22	26168419	26168419	C	G	MYO18B	c.1811C>G	NM_032608.7	NP_115997.5:p.(Thr604Arg)	NC_000022.10:g.26168419C>G	VUS	1 lab	f4139a8368
12:122255531 SETD1B AGGAGGC>A	12	122255531	122255542	AGGAGGC	A	SETD1B	c.3239_3244del	NM_001353345.2	NP_001340274.1:p.(Ala1080_Glu1081del)	NC_000012.11:g.122255537_122255542del	(Likely) benign	1 lab	f414b82acb
19:7184641 INSR C>A	19	7184641	7184641	C	A	INSR	c.660G>T	NM_000208.4	NP_000199.2:p.(Pro220=)	NC_000019.9:g.7184641C>A	(Likely) benign	1 lab	f416319146
11:77934572 GAB2 G>A	11	77934572	77934572	G	A	GAB2	c.1453C>T	NM_080491.3	NP_536739.1:p.(His485Tyr)	NC_000011.9:g.77934572G>A	VUS	1 lab	f41949e5c1
10:129906968 MKI67 G>A	10	129906968	129906968	G	A	MKI67	c.3136C>T	NM_002417.5	NP_002408.3:p.(Arg1046Trp)	NC_000010.10:g.129906968G>A	VUS	1 lab	f41aacbe77
16:88872169 CDT1 G>A	16	88872169	88872169	G	A	CDT1	c.724G>A	NM_030928.4	NP_112190.2:p.(Val242Met)	NC_000016.9:g.88872169G>A	VUS	1 lab	f42018cd91
7:94055771 COL1A2 G>A	7	94055771	94055771	G	A	COL1A2	c.3034G>A	NM_000089.4	NP_000080.2:p.(Gly1012Ser)	NC_000007.13:g.94055771G>A	(Likely) pathogenic	1 lab	f42092247c
22:41527626 EP300 T>C	22	41527626	41527626	T	C	EP300	c.1517T>C	NM_001429.4	NP_001420.2:p.(Met506Thr)	NC_000022.10:g.41527626T>C	VUS	1 lab	f423fa8241
3:168820008 MECOM C>T	3	168820008	168820008	C	T	MECOM	c.2611G>A	NM_004991.4	NP_004982.2:p.(Ala871Thr)	NC_000003.11:g.168820008C>T	(Likely) benign	1 lab	f42534016a
5:147505116 SPINK5 G>A	5	147505116	147505116	G	A	SPINK5	c.2769G>A	NM_001127698.2	NP_001121170.1:p.(Ala923=)	NC_000005.9:g.147505116G>A	(Likely) benign	1 lab	2e8d5dc02b
16:88501299 ZNF469 G>A	16	88501299	88501299	G	A	ZNF469	c.7421G>A	NM_001367624.2	NP_001354553.1:p.(Cys2474Tyr)	NC_000016.9:g.88501299G>A	VUS	1 lab	f4256c903c
2:163174640 IFIH1 C>T	2	163174640	163174640	C	T	IFIH1	c.178G>A	NM_022168.4	NP_071451.2:p.(Glu60Lys)	NC_000002.11:g.163174640C>T	VUS	1 lab	f4260431a6
7:95434120 DYNC1I1 C>T	7	95434120	95434120	C	T	DYNC1I1	c.79C>T	NM_001135556.2	NP_001129028.1:p.(Arg27Trp)	NC_000007.13:g.95434120C>T	VUS	1 lab	f4260cfae6
X:76768533 ATRX G>A	X	76768533	76768533	G	A	ATRX	c.7201-4426C>T	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76768533G>A	VUS	1 lab	f4272f342c
X:17394178 NHS C>CCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGG	X	17394178	17394217	C	CCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGG	NHS	c.302_337dup	NM_001291867.2	NP_001278796.1:p.(Glu101_Ala112dup)	NC_000023.10:g.17394182_17394217dup	(Likely) benign	1 lab	f427e28c62
18:22804628 ZNF521 A>C	18	22804628	22804628	A	C	ZNF521	c.3254T>G	NM_015461.3	NP_056276.1:p.(Ile1085Ser)	NC_000018.9:g.22804628A>C	(Likely) benign	1 lab	f42a29624d
1:155450632 ASH1L T>C	1	155450632	155450632	T	C	ASH1L	c.2029A>G	NM_018489.3	NP_060959.2:p.(Ser677Gly)	NC_000001.10:g.155450632T>C	VUS	1 lab	f431755294
1:161332113 SDHC C>T	1	161332113	161332113	C	T	SDHC	c.406-6C>T	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332113C>T	(Likely) benign	1 lab	f43247a28b
7:101833160 CUX1 G>A	7	101833160	101833160	G	A	CUX1	c.1076+9G>A	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101833160G>A	(Likely) benign	1 lab	f4345b9c30
X:85769337 DACH2 C>T	X	85769337	85769337	C	T	DACH2	c.583C>T	NM_053281.3	NP_444511.1:p.(Arg195Cys)	NC_000023.10:g.85769337C>T	(Likely) benign	1 lab	f43530640e
19:15272010 NOTCH3 T>C	19	15272010	15272010	T	C	NOTCH3	c.6429A>G	NM_000435.3	NP_000426.2:p.(Pro2143=)	NC_000019.9:g.15272010T>C	(Likely) benign	1 lab	f4354cc8e5
2:179419173 TTN G>C	2	179419173	179419173	G	C	TTN	c.88894+7C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179419173G>C	(Likely) benign	1 lab	f43592c3ee
4:187130367 CYP4V2 C>T	4	187130367	187130367	C	T	CYP4V2	c.1346C>T	NM_207352.4	NP_997235.3:p.(Ala449Val)	NC_000004.11:g.187130367C>T	VUS	1 lab	f43a048da7
2:60998650 PAPOLG A>G	2	60998650	60998650	A	G	PAPOLG	c.493-4A>G	NM_022894.4	NP_075045.2:p.?	NC_000002.11:g.60998650A>G	(Likely) benign	1 lab	f43b20556e
2:166805924 TTC21B T>C	2	166805924	166805924	T	C	TTC21B	c.242A>G	NM_024753.5	NP_079029.3:p.(His81Arg)	NC_000002.11:g.166805924T>C	VUS	1 lab	f43cd4c412
X:49021050 MAGIX A>G	X	49021050	49021050	A	G	MAGIX	c.202A>G	NM_024859.4	NP_079135.3:p.(Ser68Gly)	NC_000023.10:g.49021050A>G	(Likely) benign	1 lab	f43f55ca7a
4:177650867 VEGFC G>A	4	177650867	177650867	G	A	VEGFC	c.181C>T	NM_005429.5	NP_005420.1:p.(Arg61Trp)	NC_000004.11:g.177650867G>A	(Likely) benign	1 lab	f440a322ad
11:72114088 CLPB G>A	11	72114088	72114088	G	A	CLPB	c.464C>T	NM_001258392.3	NP_001245321.1:p.(Ser155Leu)	NC_000011.9:g.72114088G>A	VUS	1 lab	f442229893
20:44642375 MMP9 C>T	20	44642375	44642375	C	T	MMP9	c.1690C>T	NM_004994.3	NP_004985.2:p.(Pro564Ser)	NC_000020.10:g.44642375C>T	VUS	1 lab	f44583850a
1:228336425 GUK1 G>C	1	228336425	228336425	G	C	GUK1	c.*27G>C	NM_001159390.2	NP_001152862.1:p.?	NC_000001.10:g.228336425G>C	(Likely) benign	1 lab	f445b00569
11:66483386 SPTBN2 G>A	11	66483386	66483386	G	A	SPTBN2	c.224C>T	NM_006946.4	NP_008877.2:p.(Thr75Met)	NC_000011.9:g.66483386G>A	VUS	1 lab	f44841dc06
22:24345749 GSTT4 A>G	22	24345749	24345749	A	G	GSTT4	c.113-9T>C	NM_001358664.2	NP_001345593.1:p.?	NC_000022.10:g.24345749A>G	(Likely) benign	1 lab	314dd3b2f7
20:61444840 OGFR CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCA>C	20	61444840	61444914	CGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCA	C	OGFR	c.1888_1947del	NM_007346.4	NP_031372.2:p.(Ala630_Pro649del)	NC_000020.10:g.61444855_61444914del	VUS	1 lab	f44884ebb5
8:41834820 KAT6A G>A	8	41834820	41834820	G	A	KAT6A	c.1069C>T	NM_006766.5	NP_006757.2:p.(Arg357Ter)	NC_000008.10:g.41834820G>A	(Likely) pathogenic	1 lab	f44dfe957e
10:72301003 PALD1 G>A	10	72301003	72301003	G	A	PALD1	c.2049+5G>A	NM_014431.3	NP_055246.2:p.?	NC_000010.10:g.72301003G>A	(Likely) benign	1 lab	f44e2b390b
7:98529092 TRRAP C>T	7	98529092	98529092	C	T	TRRAP	c.3656C>T	NM_001375524.1	NP_001362453.1:p.(Thr1219Met)	NC_000007.13:g.98529092C>T	(Likely) benign	1 lab	f44fc81bbd
7:98792911 KPNA7 G>A	7	98792911	98792911	G	A	KPNA7	c.335C>T	NM_001145715.3	NP_001139187.1:p.(Ala112Val)	NC_000007.13:g.98792911G>A	VUS	1 lab	f4513c1381
X:53655705 HUWE1 A>G	X	53655705	53655705	A	G	HUWE1	c.1112T>C	NM_031407.7	NP_113584.3:p.(Ile371Thr)	NC_000023.10:g.53655705A>G	VUS	1 lab	f452973dee
9:21974679 CDKN2A G>A	9	21974679	21974679	G	A	CDKN2A	c.148C>T	NM_000077.5	NP_000068.1:p.(Gln50Ter)	NC_000009.11:g.21974679G>A	(Likely) pathogenic	1 lab	f452c53e45
3:58112324 FLNB T>G	3	58112324	58112324	T	G	FLNB	c.4062-5T>G	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58112324T>G	(Likely) benign	1 lab	f4539e252c
1:1271598 DVL1 G>A	1	1271598	1271598	G	A	DVL1	c.2012C>T	NM_001330311.2	NP_001317240.1:p.(Pro671Leu)	NC_000001.10:g.1271598G>A	(Likely) benign	1 lab	f45408b9c6
12:22061137 ABCC9 C>A	12	22061137	22061137	C	A	ABCC9	c.1329G>T	NM_020297.4	NP_064693.2:p.(Met443Ile)	NC_000012.11:g.22061137C>A	VUS	1 lab	f45672a7c7
1:146398323 NBPF14 A>T	1	146398323	146398323	A	T	NBPF14	c.309A>T	NM_001395631.1	NP_001382560.1:p.(Glu103Asp)	NC_000001.10:g.146398323A>T	VUS	1 lab	f4571fda38
6:70970356 COL9A1 T>G	6	70970356	70970356	T	G	COL9A1	c.1449+4A>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70970356T>G	VUS	1 lab	f45940fc9b
15:48813008 FBN1 C>T	15	48813008	48813008	C	T	FBN1	c.995G>A	NM_000138.5	NP_000129.3:p.(Arg332His)	NC_000015.9:g.48813008C>T	VUS	1 lab	f4598f3ac5
1:220180670 EPRS1 A>T	1	220180670	220180670	A	T	EPRS1	c.1616T>A	NM_004446.3	NP_004437.2:p.(Val539Asp)	NC_000001.10:g.220180670A>T	VUS	1 lab	f45a8c1828
15:31239445 MTMR10 G>A	15	31239445	31239445	G	A	MTMR10	c.1436C>T	NM_017762.3	NP_060232.2:p.(Ala479Val)	NC_000015.9:g.31239445G>A	(Likely) benign	1 lab	f45bd06b50
3:10975851 SLC6A11 C>T	3	10975851	10975851	C	T	SLC6A11	c.1574C>T	NM_014229.3	NP_055044.1:p.(Ala525Val)	NC_000003.11:g.10975851C>T	(Likely) benign	1 lab	f45cd346da
2:198358163 HSPD1 A>C	2	198358163	198358163	A	C	HSPD1	c.754T>G	NM_002156.5	NP_002147.2:p.(Ser252Ala)	NC_000002.11:g.198358163A>C	(Likely) benign	1 lab	f45d0110d0
3:71064770 FOXP1 G>C	3	71064770	71064770	G	C	FOXP1	c.904C>G	NM_001349338.3	NP_001336267.1:p.(Leu302Val)	NC_000003.11:g.71064770G>C	VUS	1 lab	f45d63bfc6
X:40482856 MPC1L T>G	X	40482856	40482856	T	G	MPC1L	c.39T>G	NM_001195522.3	NP_001182451.1:p.(Asp13Glu)	NC_000023.10:g.40482856T>G	(Likely) benign	1 lab	f45e871fc2
X:53112080 TSPYL2 G>C	X	53112080	53112080	G	C	TSPYL2	c.400G>C	NM_022117.4	NP_071400.1:p.(Val134Leu)	NC_000023.10:g.53112080G>C	(Likely) benign	1 lab	f45f0f5ee0
16:71768615 AP1G1 G>C	16	71768615	71768615	G	C	AP1G1	c.2269-5C>G	NM_001128.6	NP_001119.3:p.?	NC_000016.9:g.71768615G>C	VUS	1 lab	f4618462be
7:143094693 EPHA1 C>G	7	143094693	143094693	C	G	EPHA1	c.1673G>C	NM_005232.5	NP_005223.4:p.(Gly558Ala)	NC_000007.13:g.143094693C>G	(Likely) benign	1 lab	f4626903d9
12:31247740 DDX11 A>T	12	31247740	31247740	A	T	DDX11	c.1466A>T	NM_030653.4	NP_085911.2:p.(Asn489Ile)	NC_000012.11:g.31247740A>T	VUS	1 lab	f4627f734a
7:131865381 PLXNA4 G>T	7	131865381	131865381	G	T	PLXNA4	c.3603C>A	NM_020911.2	NP_065962.1:p.(Cys1201Ter)	NC_000007.13:g.131865381G>T	VUS	1 lab	f4634e11fb
11:46908043 LRP4 G>A	11	46908043	46908043	G	A	LRP4	c.2257C>T	NM_002334.4	NP_002325.2:p.(Arg753Cys)	NC_000011.9:g.46908043G>A	VUS	1 lab	f467277d0c
6:87965106 ZNF292 CAT>C	6	87965106	87965108	CAT	C	ZNF292	c.1760_1761del	NM_015021.3	NP_055836.1:p.(His587ArgfsTer6)	NC_000006.11:g.87965107_87965108del	(Likely) pathogenic	1 lab	f4696a3ca2
1:235275414 TOMM20 T>C	1	235275414	235275414	T	C	TOMM20	c.403A>G	NM_014765.3	NP_055580.1:p.(Ser135Gly)	NC_000001.10:g.235275414T>C	(Likely) benign	1 lab	f46d17af75
7:141760161 MGAM C>T	7	141760161	141760161	C	T	MGAM	c.4110C>T	NM_001365693.1	NP_001352622.1:p.(Asp1370=)	NC_000007.13:g.141760161C>T	VUS	1 lab	f46dd88bbd
17:44096097 MAPT G>T	17	44096097	44096097	G	T	MAPT	c.2286+1G>T	NM_001377265.1	NP_001364194.1:p.?	NC_000017.10:g.44096097G>T	VUS	1 lab	f46e48bd4d
17:74133598 FOXJ1 C>T	17	74133598	74133598	C	T	FOXJ1	c.1102G>A	NM_001454.4	NP_001445.2:p.(Asp368Asn)	NC_000017.10:g.74133598C>T	(Likely) benign	1 lab	f46e7437c3
X:10442671 MID1 T>C	X	10442671	10442671	T	C	MID1	c.1133A>G	NM_000381.4	NP_000372.1:p.(Tyr378Cys)	NC_000023.10:g.10442671T>C	VUS	1 lab	2e8fefd92b
4:40236984 RHOH T>C	4	40236984	40236984	T	C	RHOH	c.-330-7350T>C	NM_004310.5	NP_004301.1:p.?	NC_000004.11:g.40236984T>C	(Likely) benign	1 lab	f470868b96
6:44103099 TMEM63B G>A	6	44103099	44103099	G	A	TMEM63B	c.274G>A	NM_018426.3	NP_060896.1:p.(Glu92Lys)	NC_000006.11:g.44103099G>A	(Likely) benign	1 lab	f472c8dc6f
11:118971042 DPAGT1 G>A	11	118971042	118971042	G	A	DPAGT1	c.573C>T	NM_001382.4	NP_001373.2:p.(Asn191=)	NC_000011.9:g.118971042G>A	(Likely) benign	1 lab	f4763b47f1
2:158683163 ACVR1 CA>C	2	158683163	158683178	CA	C	ACVR1	c.-182-8093del	NM_001111067.4	NP_001104537.1:p.?	NC_000002.11:g.158683178del	(Likely) benign	1 lab	f4763efdba
17:61497748 TANC2 C>T	17	61497748	61497748	C	T	TANC2	c.4657C>T	NM_001394998.1	NP_001381927.1:p.(Arg1553Trp)	NC_000017.10:g.61497748C>T	(Likely) benign	1 lab	f47641baab
7:47930180 PKD1L1 T>C	7	47930180	47930180	T	C	PKD1L1	c.2635A>G	NM_138295.5	NP_612152.1:p.(Thr879Ala)	NC_000007.13:g.47930180T>C	(Likely) benign	1 lab	f476b39e5e
20:57876553 EDN3 A>AGAGACTGTGGCTGGCCCTGGCGAG	20	57876553	57876602	A	AGAGACTGTGGCTGGCCCTGGCGAG	EDN3	c.167_190dup	NM_207034.3	NP_996917.1:p.(Glu56_Glu63dup)	NC_000020.10:g.57876579_57876602dup	VUS	1 lab	f478ce25e1
11:63987269 FERMT3 G>T	11	63987269	63987269	G	T	FERMT3	c.1079+8G>T	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63987269G>T	(Likely) benign	1 lab	f47947e1fb
17:34073147 GAS2L2 GAGATGGTCCTCTTGC>G	17	34073147	34073162	GAGATGGTCCTCTTGC	G	GAS2L2	c.1354_1368del	NM_139285.4	NP_644814.1:p.(Ala452_Ser456del)	NC_000017.10:g.34073148_34073162del	VUS	1 lab	f479a7803c
X:48542805 WAS G>A	X	48542805	48542805	G	A	WAS	c.266G>A	NM_000377.3	NP_000368.1:p.(Gly89Asp)	NC_000023.10:g.48542805G>A	VUS	1 lab	2e9b67ba38
13:77836222 MYCBP2 C>T	13	77836222	77836222	C	T	MYCBP2	c.1613G>A	NM_015057.5	NP_055872.4:p.(Arg538Gln)	NC_000013.10:g.77836222C>T	VUS	1 lab	f47a87e360
15:64499749 CSNK1G1 T>C	15	64499749	64499749	T	C	CSNK1G1	c.724A>G	NM_022048.5	NP_071331.2:p.(Met242Val)	NC_000015.9:g.64499749T>C	(Likely) benign	1 lab	f47af0df51
15:33822786 RYR3 C>G	15	33822786	33822786	C	G	RYR3	c.280-7C>G	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.33822786C>G	(Likely) benign	1 lab	f47b3f84d0
X:35969966 CFAP47 C>A	X	35969966	35969966	C	A	CFAP47	c.932C>A	NM_001304548.2	NP_001291477.1:p.(Thr311Asn)	NC_000023.10:g.35969966C>A	(Likely) benign	1 lab	f47bdaf923
22:38964206 DMC1 C>T	22	38964206	38964206	C	T	DMC1	c.51+5G>A	NM_007068.4	NP_008999.2:p.?	NC_000022.10:g.38964206C>T	VUS	1 lab	f47bdea9dd
X:50350835 SHROOM4 G>A	X	50350835	50350835	G	A	SHROOM4	c.3307C>T	NM_020717.5	NP_065768.2:p.(Arg1103Cys)	NC_000023.10:g.50350835G>A	VUS	1 lab	f47f329db4
11:65998371 PACS1 C>G	11	65998371	65998371	C	G	PACS1	c.1586C>G	NM_018026.4	NP_060496.2:p.(Ser529Cys)	NC_000011.9:g.65998371C>G	VUS	1 lab	f480f383b0
1:22167695 HSPG2 C>T	1	22167695	22167695	C	T	HSPG2	c.9412G>A	NM_005529.7	NP_005520.4:p.(Gly3138Arg)	NC_000001.10:g.22167695C>T	VUS	1 lab	f482a83ac6
12:7046684 ATN1 A>C	12	7046684	7046684	A	C	ATN1	c.2254A>C	NM_001940.4	NP_001931.2:p.(Lys752Gln)	NC_000012.11:g.7046684A>C	VUS	1 lab	f482ab9032
20:60909246 LAMA5 A>C	20	60909246	60909246	A	C	LAMA5	c.2735T>G	NM_005560.6	NP_005551.3:p.(Val912Gly)	NC_000020.10:g.60909246A>C	VUS	1 lab	f484238cbf
19:38858394 CATSPERG C>T	19	38858394	38858394	C	T	CATSPERG	c.2908C>T	NM_021185.5	NP_067008.3:p.(Arg970Cys)	NC_000019.9:g.38858394C>T	VUS	1 lab	f4851ab320
19:51856380 ETFB A>C	19	51856380	51856380	A	C	ETFB	c.375+6T>G	NM_001985.3	NP_001976.1:p.?	NC_000019.9:g.51856380A>C	(Likely) benign	1 lab	f485cbc244
4:502725 PIGG G>T	4	502725	502725	G	T	PIGG	c.867G>T	NM_001127178.3	NP_001120650.1:p.(Leu289=)	NC_000004.11:g.502725G>T	VUS	1 lab	f4865f5b98
6:132196989 ENPP1 A>G	6	132196989	132196989	A	G	ENPP1	c.1709A>G	NM_006208.3	NP_006199.2:p.(Tyr570Cys)	NC_000006.11:g.132196989A>G	(Likely) pathogenic	1 lab	f48686c9d3
X:9863497 SHROOM2 C>T	X	9863497	9863497	C	T	SHROOM2	c.1549C>T	NM_001649.4	NP_001640.1:p.(Arg517Cys)	NC_000023.10:g.9863497C>T	(Likely) benign	1 lab	f487b41459
X:69849543 TEX11 T>C	X	69849543	69849543	T	C	TEX11	c.1526A>G	NM_031276.3	NP_112566.2:p.(Glu509Gly)	NC_000023.10:g.69849543T>C	(Likely) benign	1 lab	f488b86690
X:134986656 SAGE1 A>G	X	134986656	134986656	A	G	SAGE1	c.241A>G	NM_001381902.1	NP_001368831.1:p.(Ile81Val)	NC_000023.10:g.134986656A>G	(Likely) benign	1 lab	f488deb184
1:19478179 UBR4 T>C	1	19478179	19478179	T	C	UBR4	c.7171A>G	NM_020765.3	NP_065816.2:p.(Arg2391Gly)	NC_000001.10:g.19478179T>C	VUS	1 lab	f488f7de57
15:89398795 ACAN C>A	15	89398795	89398795	C	A	ACAN	c.2979C>A	NM_001369268.1	NP_001356197.1:p.(Ser993Arg)	NC_000015.9:g.89398795C>A	VUS	1 lab	f4893ec747
9:120475602 TLR4 C>T	9	120475602	120475602	C	T	TLR4	c.1076C>T	NM_003266.4	NP_003257.1:p.(Thr359Ile)	NC_000009.11:g.120475602C>T	(Likely) benign	1 lab	314f1bcc83
16:1270206 CACNA1H G>A	16	1270206	1270206	G	A	CACNA1H	c.6274G>A	NM_021098.3	NP_066921.2:p.(Glu2092Lys)	NC_000016.9:g.1270206G>A	VUS	1 lab	f48a4f26f6
15:59430501 MYO1E G>T	15	59430501	59430501	G	T	MYO1E	c.3146C>A	NM_004998.3	NP_004989.2:p.(Pro1049His)	NC_000015.9:g.59430501G>T	(Likely) benign	1 lab	31552b4962
17:48627929 SPATA20 CA>C	17	48627929	48627932	CA	C	SPATA20	c.1134del	NM_022827.4	NP_073738.2:p.(Gly379AlafsTer10)	NC_000017.10:g.48627932del	VUS	1 lab	f48d4e351e
7:103191710 RELN C>T	7	103191710	103191710	C	T	RELN	c.6106G>A	NM_005045.4	NP_005036.2:p.(Ala2036Thr)	NC_000007.13:g.103191710C>T	(Likely) benign	1 lab	f48da694f9
9:26961982 IFT74 A>C	9	26961982	26961982	A	C	IFT74	c.17A>C	NM_025103.4	NP_079379.2:p.(Lys6Thr)	NC_000009.11:g.26961982A>C	VUS	1 lab	2e9b771ca9
8:74893390 TMEM70 G>GTTTTTTT	8	74893390	74893392	G	GTTTTTTT	TMEM70	c.318_319insTTTTTTT	NM_017866.6	NP_060336.3:p.(Val107PhefsTer26)	NC_000008.10:g.74893391_74893392insTTTTTTT	(Likely) benign	1 lab	f48e710497
13:23907783 SACS G>A	13	23907783	23907783	G	A	SACS	c.10232C>T	NM_014363.6	NP_055178.3:p.(Pro3411Leu)	NC_000013.10:g.23907783G>A	VUS	1 lab	f48e75e93b
15:41146853 SPINT1 C>G	15	41146853	41146853	C	G	SPINT1	c.1083C>G	NM_003710.4	NP_003701.1:p.(Asp361Glu)	NC_000015.9:g.41146853C>G	(Likely) benign	1 lab	f48f39c09f
16:58561786 CNOT1 G>A	16	58561786	58561786	G	A	CNOT1	c.6453+593C>T	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58561786G>A	(Likely) benign	1 lab	f48fff83b8
16:89836245 FANCA T>G	16	89836245	89836245	T	G	FANCA	c.2504A>C	NM_000135.4	NP_000126.2:p.(Lys835Thr)	NC_000016.9:g.89836245T>G	VUS	1 lab	f49057c53b
16:31141487 KAT8 T>C	16	31141487	31141487	T	C	KAT8	c.912+9T>C	NM_032188.3	NP_115564.2:p.?	NC_000016.9:g.31141487T>C	(Likely) benign	1 lab	f491a2f88f
6:43030885 KLC4 G>A	6	43030885	43030885	G	A	KLC4	c.489G>A	NM_201521.3	NP_958929.1:p.(Ser163=)	NC_000006.11:g.43030885G>A	VUS	1 lab	f493a9f84e
X:153175487 ARHGAP4 C>T	X	153175487	153175487	C	T	ARHGAP4	c.2209G>A	NM_001666.5	NP_001657.3:p.(Glu737Lys)	NC_000023.10:g.153175487C>T	VUS	1 lab	f4950de2bf
11:17417462 ABCC8 G>A	11	17417462	17417462	G	A	ABCC8	c.4135C>T	NM_000352.6	NP_000343.2:p.(Arg1379Cys)	NC_000011.9:g.17417462G>A	(Likely) pathogenic	1 lab	f495371de2
11:6413317 SMPD1 G>C	11	6413317	6413317	G	C	SMPD1	c.1022G>C	NM_000543.5	NP_000534.3:p.(Arg341Pro)	NC_000011.9:g.6413317G>C	VUS	1 lab	f51a1ff819
19:17671166 COLGALT1 G>A	19	17671166	17671166	G	A	COLGALT1	c.381G>A	NM_024656.4	NP_078932.2:p.(Pro127=)	NC_000019.9:g.17671166G>A	(Likely) benign	1 lab	f496b83d4c
16:67692121 ACD G>T	16	67692121	67692121	G	T	ACD	c.974C>A	NM_001082486.2	NP_001075955.2:p.(Thr325Asn)	NC_000016.9:g.67692121G>T	(Likely) benign	1 lab	f497af85f5
11:9444597 IPO7 G>A	11	9444597	9444597	G	A	IPO7	c.951G>A	NM_006391.3	NP_006382.1:p.(Met317Ile)	NC_000011.9:g.9444597G>A	VUS	1 lab	f54c3cac3c
17:40693164 NAGLU T>A	17	40693164	40693164	T	A	NAGLU	c.961T>A	NM_000263.4	NP_000254.2:p.(Ser321Thr)	NC_000017.10:g.40693164T>A	(Likely) benign	1 lab	f497e2b946
11:57367417 SERPING1 CAG>C	11	57367417	57367421	CAG	C	SERPING1	c.120_121del	NM_000062.3	NP_000053.2:p.(Gly41ArgfsTer16)	NC_000011.9:g.57367420_57367421del	(Likely) pathogenic	1 lab	f49832fd2a
12:111772509 CUX2 A>G	12	111772509	111772509	A	G	CUX2	c.3191A>G	NM_015267.4	NP_056082.2:p.(Asn1064Ser)	NC_000012.11:g.111772509A>G	(Likely) benign	1 lab	f498615508
17:16004555 NCOR1 G>A	17	16004555	16004555	G	A	NCOR1	c.2690+9C>T	NM_006311.4	NP_006302.2:p.?	NC_000017.10:g.16004555G>A	(Likely) benign	1 lab	f49b3c2098
1:74818994 TNNI3K T>A	1	74818994	74818994	T	A	TNNI3K	c.977T>A	NM_015978.3	NP_057062.1:p.(Leu326His)	NC_000001.10:g.74818994T>A	VUS	1 lab	2e9c35bb72
22:50512731 MLC1 C>T	22	50512731	50512731	C	T	MLC1	c.628G>A	NM_015166.4	NP_055981.1:p.(Val210Ile)	NC_000022.10:g.50512731C>T	VUS	1 lab	f49cf5b11c
1:3607292 TP73 C>T	1	3607292	3607292	C	T	TP73	c.186+7548C>T	NM_005427.4	NP_005418.1:p.?	NC_000001.10:g.3607292C>T	(Likely) benign	1 lab	f49e6d60be
5:149631371 CAMK2A G>A	5	149631371	149631371	G	A	CAMK2A	c.635C>T	NM_015981.4	NP_057065.2:p.(Pro212Leu)	NC_000005.9:g.149631371G>A	VUS	1 lab	f49ed57b62
19:1457002 APC2 G>C	19	1457002	1457002	G	C	APC2	c.967G>C	NM_005883.3	NP_005874.1:p.(Gly323Arg)	NC_000019.9:g.1457002G>C	(Likely) benign	1 lab	f49f2e97da
20:35885316 GHRH A>G	20	35885316	35885316	A	G	GHRH	c.-19-5T>C	NM_021081.6	NP_066567.1:p.?	NC_000020.10:g.35885316A>G	(Likely) benign	1 lab	f49ff59bb3
15:90294227 MESP1 A>G	15	90294227	90294227	A	G	MESP1	c.236T>C	NM_018670.4	NP_061140.1:p.(Leu79Pro)	NC_000015.9:g.90294227A>G	VUS	1 lab	f4a0e94b1f
4:3495138 DOK7 G>T	4	3495138	3495138	G	T	DOK7	c.1425G>T	NM_173660.5	NP_775931.3:p.(Trp475Cys)	NC_000004.11:g.3495138G>T	VUS	1 lab	f4a17b839a
3:194117829 GP5 C>G	3	194117829	194117829	C	G	GP5	c.1183G>C	NM_004488.2	NP_004479.1:p.(Asp395His)	NC_000003.11:g.194117829C>G	(Likely) benign	1 lab	f4a197a36d
17:56404137 TSPOAP1 C>T	17	56404137	56404137	C	T	TSPOAP1	c.348G>A	NM_004758.4	NP_004749.2:p.(Met116Ile)	NC_000017.10:g.56404137C>T	(Likely) benign	1 lab	f4a2ea392c
19:50770140 MYH14 C>A	19	50770140	50770140	C	A	MYH14	c.2701C>A	NM_001145809.2	NP_001139281.1:p.(Pro901Thr)	NC_000019.9:g.50770140C>A	VUS	1 lab	f4a43b0fdc
10:64574070 EGR2 C>G	10	64574070	64574070	C	G	EGR2	c.328G>C	NM_000399.5	NP_000390.2:p.(Glu110Gln)	NC_000010.10:g.64574070C>G	(Likely) benign	1 lab	f4a6d63150
8:109491237 EMC2 G>A	8	109491237	109491237	G	A	EMC2	c.705G>A	NM_014673.5	NP_055488.1:p.(Ser235=)	NC_000008.10:g.109491237G>A	(Likely) benign	1 lab	f4a7efb63e
16:88787615 PIEZO1 C>T	16	88787615	88787615	C	T	PIEZO1	c.5627G>A	NM_001142864.4	NP_001136336.2:p.(Arg1876Lys)	NC_000016.9:g.88787615C>T	(Likely) benign	1 lab	f4adba0103
20:30408067 MYLK2 G>C	20	30408067	30408067	G	C	MYLK2	c.191G>C	NM_033118.3	NP_149109.1:p.(Gly64Ala)	NC_000020.10:g.30408067G>C	(Likely) benign	1 lab	315c8c1a66
1:176708785 PAPPA2 G>A	1	176708785	176708785	G	A	PAPPA2	c.3822G>A	NM_020318.3	NP_064714.2:p.(Glu1274=)	NC_000001.10:g.176708785G>A	(Likely) benign	1 lab	f4b34fb769
7:4119223 SDK1 G>A	7	4119223	4119223	G	A	SDK1	c.3324+7G>A	NM_152744.4	NP_689957.3:p.?	NC_000007.13:g.4119223G>A	(Likely) benign	1 lab	f4b404eaeb
5:68840951 OCLN C>T	5	68840951	68840951	C	T	OCLN	c.1253+5C>T	NM_001205254.2	NP_001192183.1:p.?	NC_000005.9:g.68840951C>T	(Likely) benign	1 lab	f4b431cb98
4:2831238 SH3BP2 C>T	4	2831238	2831238	C	T	SH3BP2	c.605C>T	NM_001122681.2	NP_001116153.1:p.(Pro202Leu)	NC_000004.11:g.2831238C>T	VUS	1 lab	f4b46f0309
X:132888207 GPC3 T>G	X	132888207	132888207	T	G	GPC3	c.338-4A>C	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132888207T>G	(Likely) benign	1 lab	f4b47a9126
11:65653851 FIBP G>A	11	65653851	65653851	G	A	FIBP	c.454C>T	NM_004214.5	NP_004205.2:p.(Arg152Trp)	NC_000011.9:g.65653851G>A	VUS	1 lab	f4b47d8b1a
9:35793076 NPR2 A>G	9	35793076	35793076	A	G	NPR2	c.667+4A>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35793076A>G	VUS	1 lab	f4b6f7ce24
11:125891432 CDON C>T	11	125891432	125891432	C	T	CDON	c.77-17G>A	NM_016952.5	NP_058648.4:p.?	NC_000011.9:g.125891432C>T	VUS	1 lab	2e9c4c7d50
16:1035202 SOX8 T>C	16	1035202	1035202	T	C	SOX8	c.1157T>C	NM_014587.5	NP_055402.2:p.(Leu386Pro)	NC_000016.9:g.1035202T>C	VUS	1 lab	f4b854fed9
14:105416336 AHNAK2 C>T	14	105416336	105416336	C	T	AHNAK2	c.5452G>A	NM_138420.4	NP_612429.2:p.(Ala1818Thr)	NC_000014.8:g.105416336C>T	(Likely) benign	1 lab	f4bb197503
9:119106905 PAPPA G>A	9	119106905	119106905	G	A	PAPPA	c.3695G>A	NM_002581.5	NP_002572.2:p.(Arg1232His)	NC_000009.11:g.119106905G>A	(Likely) benign	1 lab	f4bc054f0c
6:137147584 PEX7 G>C	6	137147584	137147584	G	C	PEX7	c.316G>C	NM_000288.4	NP_000279.1:p.(Val106Leu)	NC_000006.11:g.137147584G>C	VUS	1 lab	f4bc52c855
22:50714320 PLXNB2 C>T	22	50714320	50714320	C	T	PLXNB2	c.5410G>A	NM_012401.4	NP_036533.2:p.(Glu1804Lys)	NC_000022.10:g.50714320C>T	(Likely) benign	1 lab	f4bd0a1c73
8:17915087 ASAH1 C>T	8	17915087	17915087	C	T	ASAH1	c.1144G>A	NM_177924.5	NP_808592.2:p.(Glu382Lys)	NC_000008.10:g.17915087C>T	VUS	1 lab	f4bd230dc1
19:35250937 ZNF599 A>G	19	35250937	35250937	A	G	ZNF599	c.769T>C	NM_001007248.3	NP_001007249.1:p.(Cys257Arg)	NC_000019.9:g.35250937A>G	VUS	1 lab	f4c1b0eeb4
6:117232142 RFX6 A>G	6	117232142	117232142	A	G	RFX6	c.717A>G	NM_173560.4	NP_775831.2:p.(Thr239=)	NC_000006.11:g.117232142A>G	(Likely) benign	1 lab	f4c233a8f6
2:54859903 SPTBN1 C>G	2	54859903	54859903	C	G	SPTBN1	c.3765C>G	NM_003128.3	NP_003119.2:p.(Asp1255Glu)	NC_000002.11:g.54859903C>G	(Likely) benign	1 lab	f4c261404a
2:96696169 GPAT2 C>T	2	96696169	96696169	C	T	GPAT2	c.470G>A	NM_001321527.2	NP_001308456.1:p.(Arg157His)	NC_000002.11:g.96696169C>T	(Likely) benign	1 lab	f4c326691f
8:94822036 TMEM67 T>G	8	94822036	94822036	T	G	TMEM67	c.2685T>G	NM_153704.6	NP_714915.3:p.(Phe895Leu)	NC_000008.10:g.94822036T>G	VUS	1 lab	f4c64b22c4
17:40093123 ODAD4 C>T	17	40093123	40093123	C	T	ODAD4	c.568C>T	NM_031421.5	NP_113609.1:p.(Leu190Phe)	NC_000017.10:g.40093123C>T	VUS	1 lab	f4c8a1e062
X:135301783 MAP7D3 G>A	X	135301783	135301783	G	A	MAP7D3	c.2534C>T	NM_024597.4	NP_078873.2:p.(Ala845Val)	NC_000023.10:g.135301783G>A	(Likely) benign	1 lab	f4c9da7312
6:51612982 PKHD1 G>T	6	51612982	51612982	G	T	PKHD1	c.9432C>A	NM_138694.4	NP_619639.3:p.(Ile3144=)	NC_000006.11:g.51612982G>T	(Likely) benign	1 lab	f4ca4a6e8a
5:143545089 YIPF5 C>T	5	143545089	143545089	C	T	YIPF5	c.190G>A	NM_030799.9	NP_110426.4:p.(Gly64Arg)	NC_000005.9:g.143545089C>T	VUS	1 lab	f4cbadcfc1
17:61994843 GH1 C>A	17	61994843	61994843	C	A	GH1	c.480G>T	NM_000515.5	NP_000506.2:p.(Arg160=)	NC_000017.10:g.61994843C>A	VUS	1 lab	f4cbe8e132
12:49422921 KMT2D A>G	12	49422921	49422921	A	G	KMT2D	c.14174T>C	NM_003482.4	NP_003473.3:p.(Leu4725Pro)	NC_000012.11:g.49422921A>G	VUS	1 lab	f4ce6d4deb
9:420393 DOCK8 C>G	9	420393	420393	C	G	DOCK8	c.3841-8C>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.420393C>G	VUS	1 lab	f4cf9a9d14
11:17416805 ABCC8 T>A	11	17416805	17416805	T	A	ABCC8	c.4325A>T	NM_000352.6	NP_000343.2:p.(Glu1442Val)	NC_000011.9:g.17416805T>A	VUS	1 lab	f4cfa11528
22:22143067 MAPK1 C>T	22	22143067	22143067	C	T	MAPK1	c.640G>A	NM_002745.5	NP_002736.3:p.(Val214Ile)	NC_000022.10:g.22143067C>T	VUS	1 lab	f4d02a7d1b
14:45495081 TOGARAM1 T>A	14	45495081	45495081	T	A	TOGARAM1	c.3328+6T>A	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45495081T>A	VUS	1 lab	f4d092dd40
19:7184651 INSR G>GGAGAGAGAGAGAGAGAGAGAGA	19	7184651	7184673	G	GGAGAGAGAGAGAGAGAGAGAGA	INSR	c.653-4_653-3insTCTCTCTCTCTCTCTCTCTCTC	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184672_7184673insAGAGAGAGAGAGAGAGAGAGAG	(Likely) benign	1 lab	f4d1d0edf9
14:105415056 AHNAK2 G>C	14	105415056	105415056	G	C	AHNAK2	c.6732C>G	NM_138420.4	NP_612429.2:p.(Phe2244Leu)	NC_000014.8:g.105415056G>C	(Likely) benign	1 lab	f4d58bb71a
4:166951602 TLL1 C>T	4	166951602	166951602	C	T	TLL1	c.1158+5019C>T	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166951602C>T	(Likely) benign	1 lab	f4d5bfa950
9:131398659 DYNC2I2 G>A	9	131398659	131398659	G	A	DYNC2I2	c.604C>T	NM_052844.4	NP_443076.2:p.(Arg202Trp)	NC_000009.11:g.131398659G>A	VUS	1 lab	f4d7e40d35
10:79785373 POLR3A T>G	10	79785373	79785373	T	G	POLR3A	c.318+7A>C	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79785373T>G	(Likely) benign	1 lab	f4d813fe5f
16:67991852 SLC12A4 G>A	16	67991852	67991852	G	A	SLC12A4	c.438C>T	NM_005072.5	NP_005063.1:p.(Gly146=)	NC_000016.9:g.67991852G>A	VUS	1 lab	f4d90f4912
11:64575550 MEN1 C>A	11	64575550	64575550	C	A	MEN1	c.482G>T	NM_000244.3	NP_000235.2:p.(Gly161Val)	NC_000011.9:g.64575550C>A	(Likely) pathogenic	1 lab	31650e7589
20:44525616 CTSA C>T	20	44525616	44525616	C	T	CTSA	c.1101C>T	NM_000308.4	NP_000299.3:p.(Asn367=)	NC_000020.10:g.44525616C>T	(Likely) benign	1 lab	f4db0f76c9
19:13319713 CACNA1A G>T	19	13319713	13319713	G	T	CACNA1A	c.6637C>A	NM_001127222.2	NP_001120694.1:p.(His2213Asn)	NC_000019.9:g.13319713G>T	VUS	1 lab	f4db53c97d
X:8759354 FAM9A A>T	X	8759354	8759354	A	T	FAM9A	c.997T>A	NM_174951.3	NP_777611.1:p.(Ter333LysextTer4)	NC_000023.10:g.8759354A>T	VUS	1 lab	f4dbfa69e3
3:129325478 PLXND1 G>C	3	129325478	129325478	G	C	PLXND1	c.5C>G	NM_015103.3	NP_055918.3:p.(Ala2Gly)	NC_000003.11:g.129325478G>C	VUS	1 lab	f4dddd6143
1:243419516 SDCCAG8 T>C	1	243419516	243419516	T	C	SDCCAG8	c.41T>C	NM_006642.5	NP_006633.1:p.(Leu14Pro)	NC_000001.10:g.243419516T>C	VUS	1 lab	f4de9691ad
21:47754560 PCNT A>G	21	47754560	47754560	A	G	PCNT	c.517A>G	NM_006031.6	NP_006022.3:p.(Thr173Ala)	NC_000021.8:g.47754560A>G	VUS	1 lab	f4dfcca8d4
10:95277008 CEP55 A>C	10	95277008	95277008	A	C	CEP55	c.993+3A>C	NM_018131.5	NP_060601.4:p.?	NC_000010.10:g.95277008A>C	VUS	1 lab	f509b0e0f7
19:12767445 MAN2B1 C>CA	19	12767445	12767446	C	CA	MAN2B1	c.1583dup	NM_000528.4	NP_000519.2:p.(Pro529AlafsTer82)	NC_000019.9:g.12767446dup	(Likely) pathogenic	1 lab	f4e165ee26
17:80878437 TBCD G>T	17	80878437	80878437	G	T	TBCD	c.2044G>T	NM_005993.5	NP_005984.3:p.(Val682Phe)	NC_000017.10:g.80878437G>T	(Likely) benign	1 lab	f4e22133a9
9:135939933 CEL G>A	9	135939933	135939933	G	A	CEL	c.209G>A	NM_001807.6	NP_001798.3:p.(Gly70Asp)	NC_000009.11:g.135939933G>A	VUS	1 lab	f4e2f9f179
X:48457141 WDR13 T>C	X	48457141	48457141	T	C	WDR13	c.78T>C	NM_001347217.2	NP_001334146.1:p.(Phe26=)	NC_000023.10:g.48457141T>C	VUS	1 lab	f4e454fc89
2:100217899 AFF3 C>G	2	100217899	100217899	C	G	AFF3	c.1369G>C	NM_001386135.1	NP_001373064.1:p.(Glu457Gln)	NC_000002.11:g.100217899C>G	(Likely) benign	1 lab	f4e468edd9
16:2140457 PKD1 CCA>C	16	2140457	2140459	CCA	C	PKD1	c.12271_12272del	NM_001009944.3	NP_001009944.3:p.(Trp4091GlyfsTer65)	NC_000016.9:g.2140458_2140459del	(Likely) pathogenic	1 lab	f4e4b10cb4
X:73641653 SLC16A2 C>T	X	73641653	73641653	C	T	SLC16A2	c.181C>T	NM_006517.5	NP_006508.2:p.(Pro61Ser)	NC_000023.10:g.73641653C>T	(Likely) benign	1 lab	f4e54f0466
12:78571071 NAV3 A>C	12	78571071	78571071	A	C	NAV3	c.5275A>C	NM_001024383.2	NP_001019554.1:p.(Lys1759Gln)	NC_000012.11:g.78571071A>C	VUS	1 lab	f4e7eac2fa
4:55575715 KIT A>G	4	55575715	55575715	A	G	KIT	c.1231+10A>G	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55575715A>G	(Likely) benign	1 lab	f4ea1a1888
8:144992153 PLEC G>A	8	144992153	144992153	G	A	PLEC	c.11836C>T	NM_201384.3	NP_958786.1:p.(Arg3946Trp)	NC_000008.10:g.144992153G>A	VUS	1 lab	f4ebba2acd
7:4823840 AP5Z1 C>T	7	4823840	4823840	C	T	AP5Z1	c.628C>T	NM_014855.3	NP_055670.1:p.(Pro210Ser)	NC_000007.13:g.4823840C>T	VUS	1 lab	f4ed9e6668
17:8139237 CTC1 T>C	17	8139237	8139237	T	C	CTC1	c.1118A>G	NM_025099.6	NP_079375.3:p.(Tyr373Cys)	NC_000017.10:g.8139237T>C	VUS	1 lab	f51348df55
X:153589668 FLNA C>T	X	153589668	153589668	C	T	FLNA	c.3207+8G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153589668C>T	(Likely) benign	1 lab	f4ee343962
X:68060258 EFNB1 C>T	X	68060258	68060258	C	T	EFNB1	c.802C>T	NM_004429.5	NP_004420.1:p.(Arg268Trp)	NC_000023.10:g.68060258C>T	VUS	1 lab	f4ee41be19
1:9770571 PIK3CD G>A	1	9770571	9770571	G	A	PIK3CD	c.58G>A	NM_005026.5	NP_005017.3:p.(Val20Ile)	NC_000001.10:g.9770571G>A	(Likely) benign	1 lab	f4f076b7b1
4:88536766 DSPP TAGC>T	4	88536766	88536771	TAGC	T	DSPP	c.2955_2957del	NM_014208.3	NP_055023.2:p.(Ser986del)	NC_000004.11:g.88536769_88536771del	(Likely) benign	1 lab	f4f239c7f9
12:88465595 CEP290 TTAAAG>T	12	88465595	88465605	TTAAAG	T	CEP290	c.5813_5817del	NM_025114.4	NP_079390.3:p.(Thr1938AsnfsTer16)	NC_000012.11:g.88465601_88465605del	(Likely) pathogenic	1 lab	f4f3339466
1:43914073 SZT2 G>C	1	43914073	43914073	G	C	SZT2	c.9716G>C	NM_015284.4	NP_056099.3:p.(Gly3239Ala)	NC_000001.10:g.43914073G>C	VUS	1 lab	2ea482be06
16:70995975 HYDIN C>T	16	70995975	70995975	C	T	HYDIN	c.5855G>A	NM_001270974.2	NP_001257903.1:p.(Arg1952Gln)	NC_000016.9:g.70995975C>T	(Likely) benign	1 lab	f4f3b24b20
8:90965563 NBN T>C	8	90965563	90965563	T	C	NBN	c.1754A>G	NM_002485.5	NP_002476.2:p.(Glu585Gly)	NC_000008.10:g.90965563T>C	(Likely) benign	1 lab	f4f3c9a623
19:18900900 COMP CG>C	19	18900900	18900902	CG	C	COMP	c.240del	NM_000095.3	NP_000086.2:p.(Gly81AlafsTer165)	NC_000019.9:g.18900902del	(Likely) pathogenic	1 lab	f4f53cacf7
16:19621736 VPS35L G>A	16	19621736	19621736	G	A	VPS35L	c.1022G>A	NM_020314.7	NP_064710.5:p.(Arg341Gln)	NC_000016.9:g.19621736G>A	VUS	1 lab	f4f6273652
13:100764322 PCCA A>G	13	100764322	100764322	A	G	PCCA	c.300+7A>G	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100764322A>G	VUS	1 lab	f4f672c6c8
4:57873114 POLR2B T>A	4	57873114	57873114	T	A	POLR2B	c.1350T>A	NM_000938.3	NP_000929.1:p.(Thr450=)	NC_000004.11:g.57873114T>A	VUS	1 lab	f4f92aae1a
X:153609432 EMD G>GGGGCT	X	153609432	153609446	G	GGGGCT	EMD	c.650_654dup	NM_000117.3	NP_000108.1:p.(Gln219TrpfsTer20)	NC_000023.10:g.153609442_153609446dup	(Likely) pathogenic	1 lab	f4f9ed1a16
1:245027181 HNRNPU ATCT>A	1	245027181	245027186	ATCT	A	HNRNPU	c.426_428del	NM_031844.3	NP_114032.2:p.(Glu142del)	NC_000001.10:g.245027184_245027186del	VUS	1 lab	f4fac91404
2:219920299 IHH C>T	2	219920299	219920299	C	T	IHH	c.866G>A	NM_002181.4	NP_002172.2:p.(Arg289His)	NC_000002.11:g.219920299C>T	VUS	1 lab	f4fd363669
19:10254439 DNMT1 G>C	19	10254439	10254439	G	C	DNMT1	c.3116+3C>G	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10254439G>C	(Likely) benign	1 lab	f4fd3845dc
19:42796832 CIC C>G	19	42796832	42796832	C	G	CIC	c.6017C>G	NM_001386298.1	NP_001373227.1:p.(Ser2006Cys)	NC_000019.9:g.42796832C>G	(Likely) benign	1 lab	f4fdba299c
1:53925383 DMRTB1 CCCCCGT>C	1	53925383	53925398	CCCCCGT	C	DMRTB1	c.267_272del	NM_033067.3	NP_149056.1:p.(Val90_Pro91del)	NC_000001.10:g.53925393_53925398del	VUS	1 lab	f4fdee0e8d
3:184769803 VPS8 C>A	3	184769803	184769803	C	A	VPS8	c.4277C>A	NM_001009921.3	NP_001009921.1:p.(Thr1426Asn)	NC_000003.11:g.184769803C>A	(Likely) benign	1 lab	f4fe979857
11:45986899 PHF21A AGTTT>A	11	45986899	45986904	AGTTT	A	PHF21A	c.959_962del	NM_001352027.3	NP_001338956.1:p.(Gln320LeufsTer53)	NC_000011.9:g.45986901_45986904del	(Likely) pathogenic	1 lab	f501218018
1:237666809 RYR2 C>G	1	237666809	237666809	C	G	RYR2	c.2613+4C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237666809C>G	(Likely) benign	1 lab	2ea5d810cf
1:23409673 KDM1A C>T	1	23409673	23409673	C	T	KDM1A	c.2447C>T	NM_001009999.3	NP_001009999.1:p.(Pro816Leu)	NC_000001.10:g.23409673C>T	VUS	1 lab	f502c2f7f4
1:196795997 CFHR1 GAATCT>G	1	196795997	196796002	GAATCT	G	CFHR1	c.293_297del	NM_002113.3	NP_002104.2:p.(Glu98ValfsTer9)	NC_000001.10:g.196795998_196796002del	VUS	1 lab	f503698aab
1:1902167 CFAP74 G>A	1	1902167	1902167	G	A	CFAP74	c.977C>T	NM_001304360.2	NP_001291289.1:p.(Ala326Val)	NC_000001.10:g.1902167G>A	VUS	1 lab	f503e74d54
10:16982061 CUBN C>T	10	16982061	16982061	C	T	CUBN	c.5518G>A	NM_001081.3	NP_001072.2:p.(Gly1840Ser)	NC_000010.10:g.16982061C>T	(Likely) benign	1 lab	375a55a0e0
17:42979670 DNAAF19 C>A	17	42979670	42979670	C	A	DNAAF19	c.277-16C>A	NM_001258397.3	NP_001245326.1:p.?	NC_000017.10:g.42979670C>A	(Likely) benign	1 lab	2eaaf678a6
21:47538541 COL6A2 G>A	21	47538541	47538541	G	A	COL6A2	c.1130G>A	NM_001849.4	NP_001840.3:p.(Arg377His)	NC_000021.8:g.47538541G>A	VUS	1 lab	f50611c53a
1:11907243 NPPA C>T	1	11907243	11907243	C	T	NPPA	c.377G>A	NM_006172.4	NP_006163.1:p.(Arg126Gln)	NC_000001.10:g.11907243C>T	VUS	1 lab	f506e3979c
2:32353477 SPAST G>C	2	32353477	32353477	G	C	SPAST	c.1174G>C	NM_014946.4	NP_055761.2:p.(Ala392Pro)	NC_000002.11:g.32353477G>C	VUS	1 lab	f508438d18
22:41551037 EP300 A>C	22	41551037	41551037	A	C	EP300	c.3181A>C	NM_001429.4	NP_001420.2:p.(Thr1061Pro)	NC_000022.10:g.41551037A>C	VUS	1 lab	f508cda8b3
11:298593 IFITM5 GC>G	11	298593	298597	GC	G	IFITM5	c.306del	NM_001025295.3	NP_001020466.1:p.(Leu103TrpfsTer3)	NC_000011.9:g.298597del	VUS	1 lab	f50a405d4a
20:62076169 KCNQ2 G>A	20	62076169	62076169	G	A	KCNQ2	c.533C>T	NM_172107.4	NP_742105.1:p.(Ala178Val)	NC_000020.10:g.62076169G>A	VUS	1 lab	f50e001057
8:144995251 PLEC G>A	8	144995251	144995251	G	A	PLEC	c.8738C>T	NM_201384.3	NP_958786.1:p.(Pro2913Leu)	NC_000008.10:g.144995251G>A	VUS	1 lab	f50ef1a8d0
1:108679430 SLC25A24 T>A	1	108679430	108679430	T	A	SLC25A24	c.1279A>T	NM_013386.5	NP_037518.3:p.(Met427Leu)	NC_000001.10:g.108679430T>A	VUS	1 lab	f510988aa1
X:105449709 PWWP3B G>A	X	105449709	105449709	G	A	PWWP3B	c.284G>A	NM_001171020.2	NP_001164491.1:p.(Gly95Asp)	NC_000023.10:g.105449709G>A	VUS	1 lab	f510f4cd42
2:101874348 CNOT11 A>G	2	101874348	101874348	A	G	CNOT11	c.610A>G	NM_017546.5	NP_060016.3:p.(Ile204Val)	NC_000002.11:g.101874348A>G	VUS	1 lab	f511c3b73e
18:19751292 GATA6 C>T	18	19751292	19751292	C	T	GATA6	c.187C>T	NM_005257.6	NP_005248.2:p.(Pro63Ser)	NC_000018.9:g.19751292C>T	VUS	1 lab	f5127dc10a
16:76482776 CNTNAP4 C>T	16	76482776	76482776	C	T	CNTNAP4	c.855C>T	NM_033401.5	NP_207837.2:p.(Asn285=)	NC_000016.9:g.76482776C>T	VUS	1 lab	f5147b6fde
10:70190308 DNA2 C>T	10	70190308	70190308	C	T	DNA2	c.2093G>A	NM_001080449.3	NP_001073918.2:p.(Arg698His)	NC_000010.10:g.70190308C>T	VUS	1 lab	f516ade6cf
X:107975858 IRS4 C>CA	X	107975858	107975859	C	CA	IRS4	c.3716dup	NM_001379150.1	NP_001366079.1:p.(Arg1240GlufsTer8)	NC_000023.10:g.107975859dup	VUS	1 lab	f5184cbb64
1:120612005 NOTCH2 GGCGCAGGGC>CGCAGGAA	1	120612005	120612014	GGCGCAGGGC	CGCAGGAA	NOTCH2	c.7_16delinsTTCCTGCG	NM_024408.4	NP_077719.2:p.(Ala3PhefsTer30)	NC_000001.10:g.120612005_120612014delinsCGCAGGAA	VUS	1 lab	f51afda517
X:14861858 FANCB T>C	X	14861858	14861858	T	C	FANCB	c.2411A>G	NM_001018113.3	NP_001018123.1:p.(Asp804Gly)	NC_000023.10:g.14861858T>C	(Likely) benign	1 lab	f51c0c1a78
6:106968092 CRYBG1 TC>T	6	106968092	106968097	TC	T	CRYBG1	c.3014del	NM_001371242.2	NP_001358171.1:p.(Pro1005HisfsTer47)	NC_000006.11:g.106968097del	VUS	1 lab	f51d81daa9
X:140993842 MAGEC1 CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT>C	X	140993842	140993988	CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCT	C	MAGEC1	c.694_798del	NM_005462.5	NP_005453.2:p.(Pro232_Ser266del)	NC_000023.10:g.140993884_140993988del	VUS	1 lab	f51e1e360c
5:149758922 TCOF1 GCAGTGAGGAGGAGTCAGA>G	5	149758922	149758953	GCAGTGAGGAGGAGTCAGA	G	TCOF1	c.2623_2640del	NM_001371623.1	NP_001358552.1:p.(Ser875_Glu880del)	NC_000005.9:g.149758936_149758953del	(Likely) benign	1 lab	f5207339d4
3:182756889 MCCC1 A>C	3	182756889	182756889	A	C	MCCC1	c.1302T>G	NM_020166.5	NP_064551.3:p.(Ile434Met)	NC_000003.11:g.182756889A>C	VUS	1 lab	f5209ece01
6:87968196 ZNF292 T>A	6	87968196	87968196	T	A	ZNF292	c.4849T>A	NM_015021.3	NP_055836.1:p.(Ser1617Thr)	NC_000006.11:g.87968196T>A	(Likely) benign	1 lab	f5236dbc8b
12:7173870 C1S C>T	12	7173870	7173870	C	T	C1S	c.920C>T	NM_001734.3	NP_001725.1:p.(Ala307Val)	NC_000012.11:g.7173870C>T	(Likely) benign	1 lab	3168a65932
1:22173054 HSPG2 A>C	1	22173054	22173054	A	C	HSPG2	c.8203T>G	NM_005529.7	NP_005520.4:p.(Ser2735Ala)	NC_000001.10:g.22173054A>C	VUS	1 lab	f52bfe083f
1:22204731 HSPG2 C>T	1	22204731	22204731	C	T	HSPG2	c.2633G>A	NM_005529.7	NP_005520.4:p.(Arg878His)	NC_000001.10:g.22204731C>T	VUS	1 lab	f52c95f5e8
1:152285759 FLG A>G	1	152285759	152285759	A	G	FLG	c.1603T>C	NM_002016.2	NP_002007.1:p.(Ser535Pro)	NC_000001.10:g.152285759A>G	(Likely) benign	1 lab	f52d9d4424
1:46663421 POMGNT1 A>C	1	46663421	46663421	A	C	POMGNT1	c.73T>G	NM_017739.4	NP_060209.4:p.(Trp25Gly)	NC_000001.10:g.46663421A>C	VUS	1 lab	f52e42193a
5:176638086 NSD1 C>A	5	176638086	176638086	C	A	NSD1	c.2686C>A	NM_022455.5	NP_071900.2:p.(Gln896Lys)	NC_000005.9:g.176638086C>A	(Likely) benign	1 lab	f530dad99e
12:116409975 MED13L C>T	12	116409975	116409975	C	T	MED13L	c.5798G>A	NM_015335.5	NP_056150.1:p.(Arg1933Gln)	NC_000012.11:g.116409975C>T	(Likely) benign	1 lab	f531679118
13:32972904 BRCA2 C>CTT	13	32972904	32972906	C	CTT	BRCA2	c.10255_10256insTT	NM_000059.4	NP_000050.3:p.(Ter3419PheextTer8)	NC_000013.10:g.32972905_32972906insTT	VUS	1 lab	f531834eb4
15:90208848 PLIN1 C>T	15	90208848	90208848	C	T	PLIN1	c.1535G>A	NM_002666.5	NP_002657.3:p.(Arg512His)	NC_000015.9:g.90208848C>T	VUS	1 lab	f53300a4a8
14:94780498 SERPINA6 C>T	14	94780498	94780498	C	T	SERPINA6	c.488G>A	NM_001756.4	NP_001747.3:p.(Trp163Ter)	NC_000014.8:g.94780498C>T	VUS	1 lab	f536a724c6
4:148581754 PRMT9 C>T	4	148581754	148581754	C	T	PRMT9	c.1146+243G>A	NM_138364.4	NP_612373.2:p.?	NC_000004.11:g.148581754C>T	(Likely) benign	1 lab	f538d70ab5
20:47635542 ARFGEF2 C>G	20	47635542	47635542	C	G	ARFGEF2	c.4624+7C>G	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47635542C>G	(Likely) benign	1 lab	f53a872fca
X:67733244 YIPF6 G>A	X	67733244	67733244	G	A	YIPF6	c.262G>A	NM_173834.4	NP_776195.2:p.(Asp88Asn)	NC_000023.10:g.67733244G>A	VUS	1 lab	f53be0231d
22:41282532 XPNPEP3 T>C	22	41282532	41282532	T	C	XPNPEP3	c.792+13T>C	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41282532T>C	(Likely) benign	1 lab	316d25948c
19:3543619 TEKTIP1 C>T	19	3543619	3543619	C	T	TEKTIP1	c.389C>T	NM_001135580.2	NP_001129052.1:p.(Pro130Leu)	NC_000019.9:g.3543619C>T	(Likely) benign	1 lab	f53ddf9081
7:40039316 CDK13 T>C	7	40039316	40039316	T	C	CDK13	c.2182+217T>C	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40039316T>C	(Likely) benign	1 lab	f53f46850b
13:39424333 FREM2 C>T	13	39424333	39424333	C	T	FREM2	c.6538C>T	NM_207361.6	NP_997244.4:p.(Arg2180Cys)	NC_000013.10:g.39424333C>T	VUS	1 lab	f540d12caa
1:233136229 PCNX2 G>A	1	233136229	233136229	G	A	PCNX2	c.5150C>T	NM_014801.4	NP_055616.3:p.(Ala1717Val)	NC_000001.10:g.233136229G>A	(Likely) benign	1 lab	f5413ee7d8
14:21822563 SUPT16H C>T	14	21822563	21822563	C	T	SUPT16H	c.2790+7G>A	NM_007192.4	NP_009123.1:p.?	NC_000014.8:g.21822563C>T	VUS	1 lab	f5417ce488
X:152721074 HAUS7 G>A	X	152721074	152721074	G	A	HAUS7	c.856C>T	NM_001385482.1	NP_001372411.1:p.(Arg286Cys)	NC_000023.10:g.152721074G>A	VUS	1 lab	f542485f9e
16:89999025 TUBB3 A>C	16	89999025	89999025	A	C	TUBB3	c.104A>C	NM_006086.4	NP_006077.2:p.(Asn35Thr)	NC_000016.9:g.89999025A>C	VUS	1 lab	f543d36678
2:48025855 MSH6 A>T	2	48025855	48025855	A	T	MSH6	c.733A>T	NM_000179.3	NP_000170.1:p.(Ile245Leu)	NC_000002.11:g.48025855A>T	(Likely) benign	1 lab	f54542a506
18:19751884 GATA6 C>A	18	19751884	19751884	C	A	GATA6	c.779C>A	NM_005257.6	NP_005248.2:p.(Ser260Ter)	NC_000018.9:g.19751884C>A	(Likely) pathogenic	1 lab	f54569dbaa
4:15517577 CC2D2A G>A	4	15517577	15517577	G	A	CC2D2A	c.967G>A	NM_001378615.1	NP_001365544.1:p.(Ala323Thr)	NC_000004.11:g.15517577G>A	VUS	1 lab	f54622148e
12:31249611 DDX11 C>T	12	31249611	31249611	C	T	DDX11	c.1562C>T	NM_030653.4	NP_085911.2:p.(Ser521Phe)	NC_000012.11:g.31249611C>T	(Likely) benign	1 lab	f546f7c02d
4:82056446 PRKG2 T>C	4	82056446	82056446	T	C	PRKG2	c.1639A>G	NM_006259.3	NP_006250.1:p.(Ser547Gly)	NC_000004.11:g.82056446T>C	(Likely) benign	1 lab	f54941911c
X:47006759 RBM10 C>T	X	47006759	47006759	C	T	RBM10	c.-122C>T	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47006759C>T	VUS	1 lab	f54a9013e5
17:61498725 TANC2 C>G	17	61498725	61498725	C	G	TANC2	c.5634C>G	NM_001394998.1	NP_001381927.1:p.(Asn1878Lys)	NC_000017.10:g.61498725C>G	(Likely) benign	1 lab	f54ac8a027
2:179399014 TTN G>A	2	179399014	179399014	G	A	TTN	c.102328C>T	NM_001267550.2	NP_001254479.2:p.(Arg34110Trp)	NC_000002.11:g.179399014G>A	(Likely) benign	1 lab	f54ad8c492
13:111090369 COL4A2 G>A	13	111090369	111090369	G	A	COL4A2	c.846G>A	NM_001846.4	NP_001837.2:p.(Gly282=)	NC_000013.10:g.111090369G>A	(Likely) benign	1 lab	f54b1178b0
2:36704095 CRIM1 A>G	2	36704095	36704095	A	G	CRIM1	c.1055A>G	NM_016441.3	NP_057525.1:p.(Asp352Gly)	NC_000002.11:g.36704095A>G	VUS	1 lab	f54d84d87d
21:47539014 COL6A2 G>A	21	47539014	47539014	G	A	COL6A2	c.1250G>A	NM_001849.4	NP_001840.3:p.(Arg417His)	NC_000021.8:g.47539014G>A	(Likely) benign	1 lab	f54ec15609
1:145457961 POLR3GL A>G	1	145457961	145457961	A	G	POLR3GL	c.299T>C	NM_032305.3	NP_115681.1:p.(Ile100Thr)	NC_000001.10:g.145457961A>G	VUS	1 lab	f5502e2cd0
9:135940444 CEL G>A	9	135940444	135940444	G	A	CEL	c.358G>A	NM_001807.6	NP_001798.3:p.(Val120Ile)	NC_000009.11:g.135940444G>A	(Likely) benign	1 lab	f5525a9681
7:105143006 PUS7 G>A	7	105143006	105143006	G	A	PUS7	c.591C>T	NM_019042.5	NP_061915.2:p.(Ile197=)	NC_000007.13:g.105143006G>A	(Likely) benign	1 lab	f552919611
14:21854221 CHD8 T>C	14	21854221	21854221	T	C	CHD8	c.7297A>G	NM_001170629.2	NP_001164100.1:p.(Met2433Val)	NC_000014.8:g.21854221T>C	(Likely) benign	1 lab	f552d09e40
11:124738683 ROBO3 AC>A	11	124738683	124738688	AC	A	ROBO3	c.161-10del	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124738688del	VUS	1 lab	f55371b6dd
16:1840701 IGFALS G>A	16	1840701	1840701	G	A	IGFALS	c.1718C>T	NM_004970.3	NP_004961.1:p.(Pro573Leu)	NC_000016.9:g.1840701G>A	(Likely) benign	1 lab	f55378e796
2:179597746 TTN A>G	2	179597746	179597746	A	G	TTN	c.16157T>C	NM_001267550.2	NP_001254479.2:p.(Met5386Thr)	NC_000002.11:g.179597746A>G	VUS	1 lab	f55458fa71
12:53723207 SP7 G>A	12	53723207	53723207	G	A	SP7	c.22-3C>T	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53723207G>A	VUS	1 lab	f5c3ce5b44
17:71196786 COG1 C>G	17	71196786	71196786	C	G	COG1	c.1152C>G	NM_018714.3	NP_061184.1:p.(Asp384Glu)	NC_000017.10:g.71196786C>G	VUS	1 lab	f554b950bb
16:2214006 TRAF7 A>G	16	2214006	2214006	A	G	TRAF7	c.81+4A>G	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2214006A>G	VUS	1 lab	f55584d8f9
14:23282358 SLC7A7 C>T	14	23282358	23282358	C	T	SLC7A7	c.250G>A	NM_001126106.2	NP_001119578.1:p.(Val84Ile)	NC_000014.8:g.23282358C>T	(Likely) benign	1 lab	316d6f62f3
7:138406668 ATP6V0A4 C>T	7	138406668	138406668	C	T	ATP6V0A4	c.2113G>A	NM_020632.3	NP_065683.2:p.(Gly705Arg)	NC_000007.13:g.138406668C>T	(Likely) benign	1 lab	f55757972c
20:25457328 NINL T>A	20	25457328	25457328	T	A	NINL	c.2599A>T	NM_025176.6	NP_079452.3:p.(Arg867Ter)	NC_000020.10:g.25457328T>A	VUS	1 lab	f557b7fb10
2:71730412 DYSF A>G	2	71730412	71730412	A	G	DYSF	c.308A>G	NM_001130987.2	NP_001124459.1:p.(Asn103Ser)	NC_000002.11:g.71730412A>G	VUS	1 lab	f55bf95602
14:92441577 TRIP11 C>G	14	92441577	92441577	C	G	TRIP11	c.5396G>C	NM_004239.4	NP_004230.2:p.(Arg1799Pro)	NC_000014.8:g.92441577C>G	VUS	1 lab	f55d44a4c6
6:85457672 TBX18 A>C	6	85457672	85457672	A	C	TBX18	c.905T>G	NM_001080508.3	NP_001073977.1:p.(Val302Gly)	NC_000006.11:g.85457672A>C	VUS	1 lab	f55d779c74
6:157495141 ARID1B G>A	6	157495141	157495141	G	A	ARID1B	c.3236-1G>A	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157495141G>A	(Likely) benign	1 lab	f55dbaacf8
7:99702896 AP4M1 C>T	7	99702896	99702896	C	T	AP4M1	c.761C>T	NM_004722.4	NP_004713.2:p.(Ser254Leu)	NC_000007.13:g.99702896C>T	VUS	1 lab	f55fc02d06
13:25484030 CPAP T>C	13	25484030	25484030	T	C	CPAP	c.763A>G	NM_018451.5	NP_060921.3:p.(Thr255Ala)	NC_000013.10:g.25484030T>C	(Likely) benign	1 lab	f5602159f6
6:137166760 PEX7 G>T	6	137166760	137166760	G	T	PEX7	c.347G>T	NM_000288.4	NP_000279.1:p.(Ser116Ile)	NC_000006.11:g.137166760G>T	VUS	1 lab	f560bf3101
2:39042756 DHX57 C>T	2	39042756	39042756	C	T	DHX57	c.3513G>A	NM_198963.3	NP_945314.1:p.(Ser1171=)	NC_000002.11:g.39042756C>T	(Likely) benign	1 lab	f561229196
5:140235854 PCDHA1 T>C	5	140235854	140235854	T	C	PCDHA1	c.2394+67585T>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140235854T>C	VUS	1 lab	f5616d6442
17:61497940 TANC2 C>A	17	61497940	61497940	C	A	TANC2	c.4849C>A	NM_001394998.1	NP_001381927.1:p.(Pro1617Thr)	NC_000017.10:g.61497940C>A	(Likely) benign	1 lab	f5623a44fc
X:140785792 SPANXD G>T	X	140785792	140785792	G	T	SPANXD	c.124C>A	NM_032417.4	NP_115793.1:p.(Leu42Ile)	NC_000023.10:g.140785792G>T	(Likely) benign	1 lab	f566e5da25
10:131755595 EBF3 G>A	10	131755595	131755595	G	A	EBF3	c.486-5C>T	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131755595G>A	(Likely) benign	1 lab	f568222f55
1:36367811 AGO1 G>A	1	36367811	36367811	G	A	AGO1	c.1270G>A	NM_012199.5	NP_036331.1:p.(Ala424Thr)	NC_000001.10:g.36367811G>A	(Likely) benign	1 lab	f5686025a1
12:4626311 FERRY3 G>C	12	4626311	4626311	G	C	FERRY3	c.1078C>G	NM_020374.4	NP_065107.1:p.(Arg360Gly)	NC_000012.11:g.4626311G>C	(Likely) benign	1 lab	f5692dee06
3:11070971 SLC6A1 G>A	3	11070971	11070971	G	A	SLC6A1	c.1256G>A	NM_003042.4	NP_003033.3:p.(Arg419His)	NC_000003.11:g.11070971G>A	(Likely) benign	1 lab	f56b35e670
X:118370492 PGRMC1 G>A	X	118370492	118370492	G	A	PGRMC1	c.166G>A	NM_006667.5	NP_006658.1:p.(Asp56Asn)	NC_000023.10:g.118370492G>A	VUS	1 lab	f56b38a83c
1:156106828 LMNA C>T	1	156106828	156106828	C	T	LMNA	c.1488+9C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106828C>T	(Likely) benign	1 lab	f56d6c2fcd
2:179579032 TTN CGTG>C	2	179579032	179579036	CGTG	C	TTN	c.26466_26468del	NM_001267550.2	NP_001254479.2:p.(Thr8823del)	NC_000002.11:g.179579034_179579036del	VUS	1 lab	f56d825852
10:50854637 CHAT G>A	10	50854637	50854637	G	A	CHAT	c.1198G>A	NM_020549.5	NP_065574.4:p.(Asp400Asn)	NC_000010.10:g.50854637G>A	(Likely) benign	1 lab	f56d9745da
7:74005338 GTF2IRD1 C>G	7	74005338	74005338	C	G	GTF2IRD1	c.2583C>G	NM_005685.4	NP_005676.3:p.(Asn861Lys)	NC_000007.13:g.74005338C>G	(Likely) benign	1 lab	f5700be7ec
2:36740738 CRIM1 C>T	2	36740738	36740738	C	T	CRIM1	c.1820C>T	NM_016441.3	NP_057525.1:p.(Thr607Ile)	NC_000002.11:g.36740738C>T	(Likely) benign	1 lab	f572ac1c98
5:13914053 DNAH5 G>A	5	13914053	13914053	G	A	DNAH5	c.1335C>T	NM_001369.3	NP_001360.1:p.(Cys445=)	NC_000005.9:g.13914053G>A	(Likely) benign	1 lab	f572d22f53
11:118373926 KMT2A T>C	11	118373926	118373926	T	C	KMT2A	c.7319T>C	NM_001197104.2	NP_001184033.1:p.(Phe2440Ser)	NC_000011.9:g.118373926T>C	VUS	1 lab	f5739f61a5
1:1115601 TTLL10 C>T	1	1115601	1115601	C	T	TTLL10	c.387C>T	NM_001130045.2	NP_001123517.1:p.(Asn129=)	NC_000001.10:g.1115601C>T	(Likely) benign	1 lab	f5740c9be7
9:138710995 CAMSAP1 G>A	9	138710995	138710995	G	A	CAMSAP1	c.3823-3C>T	NM_015447.4	NP_056262.3:p.?	NC_000009.11:g.138710995G>A	VUS	1 lab	f5743173b5
7:32110008 PDE1C C>T	7	32110008	32110008	C	T	PDE1C	c.-3G>A	NM_001191057.4	NP_001177986.1:p.?	NC_000007.13:g.32110008C>T	(Likely) benign	1 lab	f57aece7fb
2:163128904 IFIH1 A>T	2	163128904	163128904	A	T	IFIH1	c.2455-7T>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163128904A>T	(Likely) benign	1 lab	f57b0442a0
X:19021076 ADGRG2 C>A	X	19021076	19021076	C	A	ADGRG2	c.2118G>T	NM_001079858.3	NP_001073327.1:p.(Leu706Phe)	NC_000023.10:g.19021076C>A	VUS	1 lab	f57c3d7a18
14:99642122 BCL11B G>A	14	99642122	99642122	G	A	BCL11B	c.1051C>T	NM_138576.4	NP_612808.1:p.(Leu351=)	NC_000014.8:g.99642122G>A	(Likely) benign	1 lab	f57ca96d71
20:2846052 VPS16 T>C	20	2846052	2846052	T	C	VPS16	c.2182T>C	NM_022575.4	NP_072097.2:p.(Trp728Arg)	NC_000020.10:g.2846052T>C	(Likely) benign	1 lab	f57d267094
7:103205924 RELN C>T	7	103205924	103205924	C	T	RELN	c.5011G>A	NM_005045.4	NP_005036.2:p.(Gly1671Ser)	NC_000007.13:g.103205924C>T	VUS	1 lab	f57d333382
12:53044258 KRT2 G>A	12	53044258	53044258	G	A	KRT2	c.665C>T	NM_000423.3	NP_000414.2:p.(Pro222Leu)	NC_000012.11:g.53044258G>A	(Likely) benign	1 lab	f57f1e049f
X:37027834 FAM47C C>T	X	37027834	37027834	C	T	FAM47C	c.1351C>T	NM_001013736.3	NP_001013758.1:p.(Arg451Cys)	NC_000023.10:g.37027834C>T	(Likely) benign	1 lab	f57fa9f9a7
13:110818590 COL4A1 G>A	13	110818590	110818590	G	A	COL4A1	c.4010C>T	NM_001845.6	NP_001836.3:p.(Pro1337Leu)	NC_000013.10:g.110818590G>A	(Likely) benign	1 lab	2eb22ff105
16:1524837 CLCN7 G>A	16	1524837	1524837	G	A	CLCN7	c.139C>T	NM_001287.6	NP_001278.1:p.(Gln47Ter)	NC_000016.9:g.1524837G>A	(Likely) pathogenic	1 lab	f581a06ddd
12:11214153 TAS2R46 C>T	12	11214153	11214153	C	T	TAS2R46	c.741G>A	NM_176887.2	NP_795368.2:p.(Met247Ile)	NC_000012.11:g.11214153C>T	(Likely) benign	1 lab	f58304453b
12:113616992 DDX54 G>A	12	113616992	113616992	G	A	DDX54	c.520C>T	NM_024072.4	NP_076977.3:p.(Pro174Ser)	NC_000012.11:g.113616992G>A	VUS	1 lab	f58435064a
12:49426878 KMT2D C>T	12	49426878	49426878	C	T	KMT2D	c.11610G>A	NM_003482.4	NP_003473.3:p.(Met3870Ile)	NC_000012.11:g.49426878C>T	(Likely) benign	1 lab	f585148f0c
16:89825093 FANCA G>A	16	89825093	89825093	G	A	FANCA	c.2873C>T	NM_000135.4	NP_000126.2:p.(Ala958Val)	NC_000016.9:g.89825093G>A	VUS	1 lab	f585498866
2:230456495 DNER C>A	2	230456495	230456495	C	A	DNER	c.386G>T	NM_139072.4	NP_620711.3:p.(Gly129Val)	NC_000002.11:g.230456495C>A	VUS	1 lab	f58581263f
X:130678859 OR13H1 AGTT>A	X	130678859	130678862	AGTT	A	OR13H1	c.813_815del	NM_001004486.1	NP_001004486.1:p.(Lys271_Phe272delinsAsn)	NC_000023.10:g.130678860_130678862del	VUS	1 lab	f5866edfea
9:123917145 CNTRL G>C	9	123917145	123917145	G	C	CNTRL	c.4319G>C	NM_007018.6	NP_008949.4:p.(Arg1440Pro)	NC_000009.11:g.123917145G>C	(Likely) benign	1 lab	f58835f619
17:78313883 RNF213 C>T	17	78313883	78313883	C	T	RNF213	c.5716C>T	NM_001256071.3	NP_001243000.2:p.(Arg1906Cys)	NC_000017.10:g.78313883C>T	(Likely) benign	1 lab	f589f49479
1:45243311 RPS8 C>T	1	45243311	45243311	C	T	RPS8	c.237C>T	NM_001012.2	NP_001003.1:p.(Ile79=)	NC_000001.10:g.45243311C>T	(Likely) benign	1 lab	f58bbbe30f
1:152284340 FLG G>T	1	152284340	152284340	G	T	FLG	c.3022C>A	NM_002016.2	NP_002007.1:p.(Pro1008Thr)	NC_000001.10:g.152284340G>T	(Likely) benign	1 lab	f58ca54fc3
9:35802619 NPR2 T>C	9	35802619	35802619	T	C	NPR2	c.1815+15T>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802619T>C	(Likely) benign	1 lab	f58cfa68a7
X:50377077 SHROOM4 C>T	X	50377077	50377077	C	T	SHROOM4	c.1996G>A	NM_020717.5	NP_065768.2:p.(Glu666Lys)	NC_000023.10:g.50377077C>T	(Likely) benign	1 lab	f58e3f6e79
11:111742173 ALG9 C>G	11	111742173	111742173	C	G	ALG9	c.34G>C	NM_024740.2	NP_079016.2:p.(Gly12Arg)	NC_000011.9:g.111742173C>G	VUS	1 lab	f58f81b23b
12:25368369 KRAS A>C	12	25368369	25368369	A	C	KRAS	c.451-5524T>G	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25368369A>C	VUS	1 lab	f590548706
1:38330007 INPP5B T>C	1	38330007	38330007	T	C	INPP5B	c.2603A>G	NM_005540.3	NP_005531.2:p.(Asn868Ser)	NC_000001.10:g.38330007T>C	VUS	1 lab	f591a5f5a0
11:47336778 MADD G>A	11	47336778	47336778	G	A	MADD	c.4277G>A	NM_001376571.1	NP_001363500.1:p.(Arg1426His)	NC_000011.9:g.47336778G>A	VUS	1 lab	f591e00390
11:44286507 ALX4 T>C	11	44286507	44286507	T	C	ALX4	c.1133A>G	NM_021926.4	NP_068745.2:p.(Asn378Ser)	NC_000011.9:g.44286507T>C	VUS	1 lab	f5924ed242
7:716891 PRKAR1B C>T	7	716891	716891	C	T	PRKAR1B	c.415G>A	NM_001164760.2	NP_001158232.1:p.(Ala139Thr)	NC_000007.13:g.716891C>T	(Likely) benign	1 lab	f595981a01
8:20069248 ATP6V1B2 T>G	8	20069248	20069248	T	G	ATP6V1B2	c.689T>G	NM_001693.4	NP_001684.2:p.(Val230Gly)	NC_000008.10:g.20069248T>G	VUS	1 lab	f595acc7f4
19:38946267 RYR1 T>C	19	38946267	38946267	T	C	RYR1	c.1673-6T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38946267T>C	(Likely) benign	1 lab	f597466b83
2:209345821 PTH2R G>A	2	209345821	209345821	G	A	PTH2R	c.1008G>A	NM_005048.4	NP_005039.1:p.(Thr336=)	NC_000002.11:g.209345821G>A	(Likely) benign	1 lab	f5980da849
2:179629529 TTN G>A	2	179629529	179629529	G	A	TTN	c.9713C>T	NM_001267550.2	NP_001254479.2:p.(Pro3238Leu)	NC_000002.11:g.179629529G>A	VUS	1 lab	f59937d50f
5:111600713 EPB41L4A G>A	5	111600713	111600713	G	A	EPB41L4A	c.434C>T	NM_022140.5	NP_071423.4:p.(Ser145Leu)	NC_000005.9:g.111600713G>A	VUS	1 lab	f5995456e8
21:47818143 PCNT C>T	21	47818143	47818143	C	T	PCNT	c.4564-6C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47818143C>T	(Likely) benign	1 lab	f59ace031e
X:605162 SHOX G>T	X	605162	605162	G	T	SHOX	c.670G>T	NM_000451.3	NP_000442.1:p.(Ala224Ser)	NC_000023.10:g.605162G>T	(Likely) benign	1 lab	f59b075e97
17:39580508 KRT37 C>T	17	39580508	39580508	C	T	KRT37	c.268G>A	NM_003770.5	NP_003761.3:p.(Gly90Arg)	NC_000017.10:g.39580508C>T	VUS	1 lab	f59bb7ad10
11:71948526 INPPL1 C>T	11	71948526	71948526	C	T	INPPL1	c.3238C>T	NM_001567.4	NP_001558.3:p.(Arg1080Cys)	NC_000011.9:g.71948526C>T	VUS	1 lab	f59bf630f4
12:31247530 DDX11 T>A	12	31247530	31247530	T	A	DDX11	c.1376T>A	NM_030653.4	NP_085911.2:p.(Ile459Asn)	NC_000012.11:g.31247530T>A	VUS	1 lab	f59dc3a981
5:141363015 RNF14 G>A	5	141363015	141363015	G	A	RNF14	c.1134G>A	NM_004290.5	NP_004281.1:p.(Arg378=)	NC_000005.9:g.141363015G>A	VUS	1 lab	f59fee5a49
12:88465177 CEP290 T>C	12	88465177	88465177	T	C	CEP290	c.5905A>G	NM_025114.4	NP_079390.3:p.(Met1969Val)	NC_000012.11:g.88465177T>C	(Likely) benign	1 lab	f5a03c4422
2:26590004 SELENOI TC>T	2	26590004	26590006	TC	T	SELENOI	c.236-8del	NM_033505.4	NP_277040.1:p.?	NC_000002.11:g.26590006del	VUS	1 lab	f5a446ba52
7:75932403 HSPB1 C>G	7	75932403	75932403	C	G	HSPB1	c.364+10C>G	NM_001540.3	NP_001531.1:p.?	NC_000007.13:g.75932403C>G	(Likely) benign	1 lab	317139bdca
8:10470805 RP1L1 G>T	8	10470805	10470805	G	T	RP1L1	c.803C>A	NM_178857.6	NP_849188.4:p.(Pro268Gln)	NC_000008.10:g.10470805G>T	VUS	1 lab	f5a4e827d5
14:35872032 NFKBIA C>G	14	35872032	35872032	C	G	NFKBIA	c.581G>C	NM_020529.2	NP_065390.1:p.(Gly194Ala)	NC_000014.8:g.35872032C>G	(Likely) benign	1 lab	3171a2766c
X:152860142 CCNQ G>A	X	152860142	152860142	G	A	CCNQ	c.297-5C>T	NM_152274.5	NP_689487.2:p.?	NC_000023.10:g.152860142G>A	(Likely) benign	1 lab	f5a64ec95a
10:94407987 KIF11 G>A	10	94407987	94407987	G	A	KIF11	c.2566G>A	NM_004523.4	NP_004514.2:p.(Glu856Lys)	NC_000010.10:g.94407987G>A	VUS	1 lab	f5a7e0c9d3
9:35808495 NPR2 C>T	9	35808495	35808495	C	T	NPR2	c.2713-11C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35808495C>T	(Likely) benign	1 lab	f5a9061185
19:13397487 CACNA1A G>A	19	13397487	13397487	G	A	CACNA1A	c.3383C>T	NM_001127222.2	NP_001120694.1:p.(Pro1128Leu)	NC_000019.9:g.13397487G>A	VUS	1 lab	f5a93069c9
20:948617 RSPO4 C>A	20	948617	948617	C	A	RSPO4	c.244G>T	NM_001029871.4	NP_001025042.2:p.(Gly82Cys)	NC_000020.10:g.948617C>A	VUS	1 lab	f5ab3fadd8
3:93593226 PROS1 C>T	3	93593226	93593226	C	T	PROS1	c.1894G>A	NM_000313.4	NP_000304.2:p.(Val632Met)	NC_000003.11:g.93593226C>T	VUS	1 lab	f5abf5e07e
6:31963559 C4B_2 A>G	6	31963559	31963559	A	G	C4B_2	c.3218=	NM_001242823.2	NP_001229752.1:p.(Gly1073=)	NC_000006.11:g.31963559A>G	(Likely) benign	1 lab	f5ac9e4c8d
1:201177671 IGFN1 G>A	1	201177671	201177671	G	A	IGFN1	c.3650G>A	NM_001164586.2	NP_001158058.1:p.(Gly1217Glu)	NC_000001.10:g.201177671G>A	(Likely) benign	1 lab	f5ad1106a9
2:214204936 SPAG16 C>T	2	214204936	214204936	C	T	SPAG16	c.586C>T	NM_024532.5	NP_078808.3:p.(Arg196Ter)	NC_000002.11:g.214204936C>T	VUS	1 lab	f5ad1314c1
8:11566432 GATA4 A>T	8	11566432	11566432	A	T	GATA4	c.611A>T	NM_001308093.3	NP_001295022.1:p.(Asn204Ile)	NC_000008.10:g.11566432A>T	VUS	1 lab	f5ad251eb8
12:52913575 KRT5 C>T	12	52913575	52913575	C	T	KRT5	c.506G>A	NM_000424.4	NP_000415.2:p.(Arg169His)	NC_000012.11:g.52913575C>T	VUS	1 lab	f5ad3e70a5
11:118890025 TRAPPC4 C>T	11	118890025	118890025	C	T	TRAPPC4	c.348C>T	NM_016146.6	NP_057230.1:p.(His116=)	NC_000011.9:g.118890025C>T	VUS	1 lab	f5adb53e8e
4:107154226 TBCK T>C	4	107154226	107154226	T	C	TBCK	c.1513-5A>G	NM_001163435.3	NP_001156907.2:p.?	NC_000004.11:g.107154226T>C	(Likely) benign	1 lab	f5add23021
16:58579381 CNOT1 G>A	16	58579381	58579381	G	A	CNOT1	c.4021C>T	NM_016284.5	NP_057368.3:p.(Pro1341Ser)	NC_000016.9:g.58579381G>A	(Likely) benign	1 lab	f5aeed68da
15:99456254 IGF1R G>A	15	99456254	99456254	G	A	IGF1R	c.1590-19G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99456254G>A	(Likely) benign	1 lab	f5afc96354
1:22448076 WNT4 G>A	1	22448076	22448076	G	A	WNT4	c.314-7C>T	NM_030761.5	NP_110388.2:p.?	NC_000001.10:g.22448076G>A	(Likely) benign	1 lab	f5b0adb7f5
1:16358248 CLCNKA A>G	1	16358248	16358248	A	G	CLCNKA	c.1666A>G	NM_004070.4	NP_004061.3:p.(Thr556Ala)	NC_000001.10:g.16358248A>G	(Likely) benign	1 lab	f5b0cf870d
14:71197518 MAP3K9 T>C	14	71197518	71197518	T	C	MAP3K9	c.2894A>G	NM_001284230.2	NP_001271159.1:p.(Asn965Ser)	NC_000014.8:g.71197518T>C	VUS	1 lab	f5b0db9f3b
7:128441545 CCDC136 G>C	7	128441545	128441545	G	C	CCDC136	c.652G>C	NM_022742.5	NP_073579.5:p.(Asp218His)	NC_000007.13:g.128441545G>C	VUS	1 lab	f5b3636d5f
2:47637292 MSH2 A>G	2	47637292	47637292	A	G	MSH2	c.426A>G	NM_000251.3	NP_000242.1:p.(Ser142=)	NC_000002.11:g.47637292A>G	VUS	1 lab	f5b46676b7
20:61452554 COL9A3 C>T	20	61452554	61452554	C	T	COL9A3	c.331C>T	NM_001853.4	NP_001844.3:p.(Pro111Ser)	NC_000020.10:g.61452554C>T	VUS	1 lab	f5b485f9cb
2:179474025 TTN C>G	2	179474025	179474025	C	G	TTN	c.52012G>C	NM_001267550.2	NP_001254479.2:p.(Asp17338His)	NC_000002.11:g.179474025C>G	VUS	1 lab	f5b4dc87f5
1:236889230 ACTN2 C>CTTCT	1	236889230	236889231	C	CTTCT	ACTN2	c.-373-3_-373-2insTTCT	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236889230_236889231insTTCT	(Likely) benign	1 lab	2eb724c333
8:41792130 KAT6A T>C	8	41792130	41792130	T	C	KAT6A	c.3608A>G	NM_006766.5	NP_006757.2:p.(Lys1203Arg)	NC_000008.10:g.41792130T>C	(Likely) benign	1 lab	f5b6c7560f
3:128200741 GATA2 G>T	3	128200741	128200741	G	T	GATA2	c.1064C>A	NM_032638.5	NP_116027.2:p.(Thr355Lys)	NC_000003.11:g.128200741G>T	VUS	1 lab	f5b7240403
2:179437832 TTN C>T	2	179437832	179437832	C	T	TTN	c.73027G>A	NM_001267550.2	NP_001254479.2:p.(Ala24343Thr)	NC_000002.11:g.179437832C>T	(Likely) benign	1 lab	f5b77c8527
7:42005584 GLI3 G>C	7	42005584	42005584	G	C	GLI3	c.3087C>G	NM_000168.6	NP_000159.3:p.(Ser1029Arg)	NC_000007.13:g.42005584G>C	(Likely) benign	1 lab	f5b7eed027
22:51160538 SHANK3 C>T	22	51160538	51160538	C	T	SHANK3	c.4502C>T	NM_001372044.2	NP_001358973.1:p.(Pro1501Leu)	NC_000022.10:g.51160538C>T	(Likely) benign	1 lab	f5b88b6567
19:1467037 APC2 G>A	19	1467037	1467037	G	A	APC2	c.3737G>A	NM_005883.3	NP_005874.1:p.(Cys1246Tyr)	NC_000019.9:g.1467037G>A	VUS	1 lab	f5bb1143c9
7:124518170 POT1 T>A	7	124518170	124518170	T	A	POT1	c.125-7075A>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124518170T>A	(Likely) benign	1 lab	f5bb3f6412
22:51063725 ARSA G>A	22	51063725	51063725	G	A	ARSA	c.1378C>T	NM_000487.6	NP_000478.3:p.(Gln460Ter)	NC_000022.10:g.51063725G>A	VUS	1 lab	3175235e1d
5:140050894 WDR55 G>C	5	140050894	140050894	G	C	WDR55	c.*1655G>C	NM_017706.5	NP_060176.3:p.?	NC_000005.9:g.140050894G>C	(Likely) benign	1 lab	f5bda4fc5d
1:1277833 DVL1 G>A	1	1277833	1277833	G	A	DVL1	c.272C>T	NM_001330311.2	NP_001317240.1:p.(Ala91Val)	NC_000001.10:g.1277833G>A	(Likely) benign	1 lab	f5becb1af8
X:124455229 TEX13C A>C	X	124455229	124455229	A	C	TEX13C	c.1261A>C	NM_001195272.2	NP_001182201.1:p.(Met421Leu)	NC_000023.10:g.124455229A>C	VUS	1 lab	f5c0907a6f
2:220075501 ABCB6 C>T	2	220075501	220075501	C	T	ABCB6	c.2188G>A	NM_005689.4	NP_005680.1:p.(Gly730Arg)	NC_000002.11:g.220075501C>T	(Likely) benign	1 lab	f5c15ada71
17:78327906 RNF213 C>T	17	78327906	78327906	C	T	RNF213	c.10666C>T	NM_001256071.3	NP_001243000.2:p.(Arg3556Cys)	NC_000017.10:g.78327906C>T	VUS	1 lab	f5c1baf747
13:32918967 BRCA2 G>A	13	32918967	32918967	G	A	BRCA2	c.6937+177G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918967G>A	(Likely) benign	1 lab	3177ea2922
1:201981845 ELF3 G>A	1	201981845	201981845	G	A	ELF3	c.556G>A	NM_004433.5	NP_004424.3:p.(Ala186Thr)	NC_000001.10:g.201981845G>A	(Likely) benign	1 lab	f5c49d6bad
8:38314997 FGFR1 C>T	8	38314997	38314997	C	T	FGFR1	c.-33G>A	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38314997C>T	(Likely) benign	1 lab	f5c4c78ccd
19:7128931 INSR G>A	19	7128931	7128931	G	A	INSR	c.2877C>T	NM_000208.4	NP_000199.2:p.(Ile959=)	NC_000019.9:g.7128931G>A	(Likely) benign	1 lab	f5c4fd63b2
13:28498493 PDX1 G>GTACA	13	28498493	28498498	G	GTACA	PDX1	c.509_512dup	NM_000209.4	NP_000200.1:p.(Ser172HisfsTer54)	NC_000013.10:g.28498495_28498498dup	(Likely) pathogenic	1 lab	f5c556f8dd
3:48628960 COL7A1 G>A	3	48628960	48628960	G	A	COL7A1	c.1573C>T	NM_000094.4	NP_000085.1:p.(Arg525Ter)	NC_000003.11:g.48628960G>A	(Likely) pathogenic	1 lab	d9b5f01a67
5:11364813 CTNND2 C>A	5	11364813	11364813	C	A	CTNND2	c.1367G>T	NM_001332.4	NP_001323.1:p.(Ser456Ile)	NC_000005.9:g.11364813C>A	VUS	1 lab	f5c8f1c658
1:10428592 KIF1B G>A	1	10428592	10428592	G	A	KIF1B	c.4820G>A	NM_001365951.3	NP_001352880.1:p.(Cys1607Tyr)	NC_000001.10:g.10428592G>A	VUS	1 lab	f5cb8f6c97
19:11361753 DOCK6 G>A	19	11361753	11361753	G	A	DOCK6	c.517C>T	NM_020812.4	NP_065863.2:p.(Arg173Trp)	NC_000019.9:g.11361753G>A	(Likely) benign	1 lab	f5cef3268c
15:51233854 AP4E1 T>C	15	51233854	51233854	T	C	AP4E1	c.1067-9T>C	NM_007347.5	NP_031373.2:p.?	NC_000015.9:g.51233854T>C	(Likely) benign	1 lab	f5cfed351f
4:1346875 UVSSA T>A	4	1346875	1346875	T	A	UVSSA	c.608T>A	NM_020894.4	NP_065945.2:p.(Leu203Gln)	NC_000004.11:g.1346875T>A	VUS	1 lab	f5d1072f0c
7:47319774 TNS3 C>T	7	47319774	47319774	C	T	TNS3	c.4181G>A	NM_022748.12	NP_073585.8:p.(Gly1394Asp)	NC_000007.13:g.47319774C>T	(Likely) benign	1 lab	f5d24660e1
12:57167921 HSD17B6 G>T	12	57167921	57167921	G	T	HSD17B6	c.285G>T	NM_003725.4	NP_003716.2:p.(Gln95His)	NC_000012.11:g.57167921G>T	(Likely) benign	1 lab	f5d2589c15
5:136993942 KLHL3 T>C	5	136993942	136993942	T	C	KLHL3	c.781A>G	NM_017415.3	NP_059111.2:p.(Asn261Asp)	NC_000005.9:g.136993942T>C	(Likely) benign	1 lab	f5d31aebdd
12:56713457 PAN2 C>G	12	56713457	56713457	C	G	PAN2	c.3038G>C	NM_014871.6	NP_055686.4:p.(Gly1013Ala)	NC_000012.11:g.56713457C>G	VUS	1 lab	f5d3349723
8:61655265 CHD7 G>C	8	61655265	61655265	G	C	CHD7	c.1274G>C	NM_017780.4	NP_060250.2:p.(Gly425Ala)	NC_000008.10:g.61655265G>C	VUS	1 lab	f5d3dcecd8
20:49507982 ADNP C>G	20	49507982	49507982	C	G	ADNP	c.3269G>C	NM_001282531.3	NP_001269460.1:p.(Gly1090Ala)	NC_000020.10:g.49507982C>G	VUS	1 lab	f5d43a6758
6:152832706 SYNE1 C>T	6	152832706	152832706	C	T	SYNE1	c.310-468G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152832706C>T	VUS	1 lab	f5d53640db
11:71184686 NADSYN1 G>T	11	71184686	71184686	G	T	NADSYN1	c.620G>T	NM_018161.5	NP_060631.2:p.(Arg207Leu)	NC_000011.9:g.71184686G>T	VUS	1 lab	f5d54d1594
3:172163003 GHSR G>C	3	172163003	172163003	G	C	GHSR	c.1049C>G	NM_198407.2	NP_940799.1:p.(Thr350Ser)	NC_000003.11:g.172163003G>C	(Likely) pathogenic	1 lab	f5d7792cb1
18:14779985 ANKRD30B C>G	18	14779985	14779985	C	G	ANKRD30B	c.1447C>G	NM_001367607.2	NP_001354536.1:p.(Arg483Gly)	NC_000018.9:g.14779985C>G	VUS	1 lab	f5d7d72f61
3:176756217 TBL1XR1 C>G	3	176756217	176756217	C	G	TBL1XR1	c.931G>C	NM_024665.7	NP_078941.2:p.(Ala311Pro)	NC_000003.11:g.176756217C>G	VUS	1 lab	f5d804a022
2:179396887 TTN A>G	2	179396887	179396887	A	G	TTN	c.104455T>C	NM_001267550.2	NP_001254479.2:p.(Tyr34819His)	NC_000002.11:g.179396887A>G	(Likely) benign	1 lab	f5d8e780f3
16:57238710 RSPRY1 G>A	16	57238710	57238710	G	A	RSPRY1	c.140G>A	NM_133368.3	NP_588609.1:p.(Arg47Gln)	NC_000016.9:g.57238710G>A	VUS	1 lab	f5d90d5fea
13:94938611 GPC6 C>T	13	94938611	94938611	C	T	GPC6	c.886C>T	NM_005708.5	NP_005699.1:p.(Leu296Phe)	NC_000013.10:g.94938611C>T	VUS	1 lab	f5d961c759
12:56558141 SMARCC2 C>T	12	56558141	56558141	C	T	SMARCC2	c.3607G>A	NM_001330288.2	NP_001317217.1:p.(Ala1203Thr)	NC_000012.11:g.56558141C>T	VUS	1 lab	f5db4ef443
5:140802853 PCDHGB4 ACCT>A	5	140802853	140802857	ACCT	A	PCDHGB4	c.2397+33007_2397+33009del	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140802855_140802857del	(Likely) benign	1 lab	f5db569c74
X:31496470 DMD G>GCT	X	31496470	31496477	G	GCT	DMD	c.8688_8689dup	NM_004006.3	NP_003997.2:p.(Ala2897GlufsTer23)	NC_000023.10:g.31496476_31496477dup	(Likely) pathogenic	1 lab	f5dbc4ef30
7:44185196 GCK C>T	7	44185196	44185196	C	T	GCK	c.1153G>A	NM_000162.5	NP_000153.1:p.(Gly385Arg)	NC_000007.13:g.44185196C>T	(Likely) pathogenic	1 lab	f5dd9b3e13
9:32984619 APTX C>A	9	32984619	32984619	C	A	APTX	c.770+10G>T	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32984619C>A	(Likely) benign	1 lab	f5ddd1b0e2
11:118972281 DPAGT1 T>A	11	118972281	118972281	T	A	DPAGT1	c.85A>T	NM_001382.4	NP_001373.2:p.(Ile29Phe)	NC_000011.9:g.118972281T>A	VUS	1 lab	f5de06b895
X:16775342 SYAP1 G>A	X	16775342	16775342	G	A	SYAP1	c.841G>A	NM_032796.4	NP_116185.2:p.(Asp281Asn)	NC_000023.10:g.16775342G>A	VUS	1 lab	f5de6be76a
X:70149843 SLC7A3 G>A	X	70149843	70149843	G	A	SLC7A3	c.5C>T	NM_032803.6	NP_116192.4:p.(Pro2Leu)	NC_000023.10:g.70149843G>A	(Likely) benign	1 lab	f5de8373df
17:15942929 NCOR1 G>C	17	15942929	15942929	G	C	NCOR1	c.6773C>G	NM_006311.4	NP_006302.2:p.(Ala2258Gly)	NC_000017.10:g.15942929G>C	VUS	1 lab	f5e2a31e10
22:18910450 PRODH CA>C	22	18910450	18910453	CA	C	PRODH	c.733-5del	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18910453del	(Likely) benign	1 lab	2eb8ddbc28
6:116442866 COL10A1 C>T	6	116442866	116442866	C	T	COL10A1	c.413G>A	NM_000493.4	NP_000484.2:p.(Arg138Gln)	NC_000006.11:g.116442866C>T	(Likely) benign	1 lab	f5e580c13b
11:10794683 CTR9 C>T	11	10794683	10794683	C	T	CTR9	c.2590C>T	NM_014633.5	NP_055448.1:p.(Arg864Cys)	NC_000011.9:g.10794683C>T	VUS	1 lab	f5e5a4028a
22:26348273 MYO18B A>G	22	26348273	26348273	A	G	MYO18B	c.5854A>G	NM_032608.7	NP_115997.5:p.(Ile1952Val)	NC_000022.10:g.26348273A>G	(Likely) benign	1 lab	f5e73f8a5b
9:35805974 NPR2 G>C	9	35805974	35805974	G	C	NPR2	c.2195G>C	NM_003995.4	NP_003986.2:p.(Ser732Thr)	NC_000009.11:g.35805974G>C	VUS	1 lab	f5e76c21c4
10:90768702 FAS C>A	10	90768702	90768702	C	A	FAS	c.391C>A	NM_000043.6	NP_000034.1:p.(Pro131Thr)	NC_000010.10:g.90768702C>A	VUS	1 lab	f5e8bbdb3a
X:63406189 AMER1 T>C	X	63406189	63406189	T	C	AMER1	c.*3570A>G	NM_152424.4	NP_689637.3:p.?	NC_000023.10:g.63406189T>C	(Likely) benign	1 lab	f5eabaa610
19:49129204 SPHK2 C>G	19	49129204	49129204	C	G	SPHK2	c.96C>G	NM_020126.5	NP_064511.2:p.(Val32=)	NC_000019.9:g.49129204C>G	VUS	1 lab	f5eadb92b8
4:995298 IDUA C>G	4	995298	995298	C	G	IDUA	c.536C>G	NM_000203.5	NP_000194.2:p.(Thr179Arg)	NC_000004.11:g.995298C>G	(Likely) pathogenic	1 lab	f5eb471ffe
X:12736510 FRMPD4 C>T	X	12736510	12736510	C	T	FRMPD4	c.3565C>T	NM_001368397.1	NP_001355326.1:p.(Arg1189Cys)	NC_000023.10:g.12736510C>T	VUS	1 lab	f5eb4b15e7
21:47831770 PCNT G>A	21	47831770	47831770	G	A	PCNT	c.5783G>A	NM_006031.6	NP_006022.3:p.(Arg1928His)	NC_000021.8:g.47831770G>A	(Likely) benign	1 lab	f5eb8ab081
8:27321068 CHRNA2 T>C	8	27321068	27321068	T	C	CHRNA2	c.892A>G	NM_000742.4	NP_000733.2:p.(Thr298Ala)	NC_000008.10:g.27321068T>C	VUS	1 lab	f5ebf8dacf
2:152372988 NEB C>T	2	152372988	152372988	C	T	NEB	c.22890G>A	NM_001164508.2	NP_001157980.2:p.(Gln7630=)	NC_000002.11:g.152372988C>T	(Likely) benign	1 lab	f5ec10189f
1:204378846 PPP1R15B G>A	1	204378846	204378846	G	A	PPP1R15B	c.1694C>T	NM_032833.5	NP_116222.4:p.(Pro565Leu)	NC_000001.10:g.204378846G>A	VUS	1 lab	f5ec346672
13:48547433 SUCLA2 A>G	13	48547433	48547433	A	G	SUCLA2	c.629T>C	NM_003850.3	NP_003841.1:p.(Ile210Thr)	NC_000013.10:g.48547433A>G	VUS	1 lab	f5ec4a5c7a
2:38960618 GALM T>TC	2	38960618	38960622	T	TC	GALM	c.952-8dup	NM_138801.3	NP_620156.1:p.?	NC_000002.11:g.38960622dup	(Likely) benign	1 lab	f5ec690ec4
2:44152263 LRPPRC G>T	2	44152263	44152263	G	T	LRPPRC	c.2839C>A	NM_133259.4	NP_573566.2:p.(Gln947Lys)	NC_000002.11:g.44152263G>T	VUS	1 lab	f5ede59a5b
7:27135316 HOXA1 ATGG>A	7	27135316	27135340	ATGG	A	HOXA1	c.213_215del	NM_005522.5	NP_005513.2:p.(His72del)	NC_000007.13:g.27135338_27135340del	(Likely) benign	1 lab	2ebb45407f
2:44201376 LRPPRC T>C	2	44201376	44201376	T	C	LRPPRC	c.1068A>G	NM_133259.4	NP_573566.2:p.(Gln356=)	NC_000002.11:g.44201376T>C	(Likely) benign	1 lab	2ebccc45de
9:35805652 NPR2 C>T	9	35805652	35805652	C	T	NPR2	c.2032C>T	NM_003995.4	NP_003986.2:p.(His678Tyr)	NC_000009.11:g.35805652C>T	VUS	1 lab	f5ef32e210
20:60890114 LAMA5 C>T	20	60890114	60890114	C	T	LAMA5	c.8017G>A	NM_005560.6	NP_005551.3:p.(Gly2673Ser)	NC_000020.10:g.60890114C>T	(Likely) benign	1 lab	f5efb791c2
9:140852116 CACNA1B G>T	9	140852116	140852116	G	T	CACNA1B	c.1310G>T	NM_000718.4	NP_000709.1:p.(Arg437Leu)	NC_000009.11:g.140852116G>T	(Likely) benign	1 lab	f5f4ae9e21
11:17419890 ABCC8 C>T	11	17419890	17419890	C	T	ABCC8	c.3749G>A	NM_000352.6	NP_000343.2:p.(Arg1250Gln)	NC_000011.9:g.17419890C>T	VUS	1 lab	f5f6c9b0ce
16:1501722 CLCN7 G>C	16	1501722	1501722	G	C	CLCN7	c.1354-5C>G	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1501722G>C	VUS	1 lab	f5f7237b3f
14:102910115 TECPR2 G>A	14	102910115	102910115	G	A	TECPR2	c.2884G>A	NM_014844.5	NP_055659.2:p.(Val962Met)	NC_000014.8:g.102910115G>A	VUS	1 lab	f5f7dedd7e
1:110029129 ATXN7L2 C>T	1	110029129	110029129	C	T	ATXN7L2	c.195C>T	NM_001350175.2	NP_001337104.1:p.(Asp65=)	NC_000001.10:g.110029129C>T	(Likely) benign	1 lab	f5f8a81de0
6:7580187 DSP G>A	6	7580187	7580187	G	A	DSP	c.3764G>A	NM_004415.2	NP_004406.2:p.(Arg1255Lys)	NC_000006.11:g.7580187G>A	VUS	1 lab	31824cb455
2:127816608 BIN1 GGTGGCCCCGGGC>G	2	127816608	127816629	GGTGGCCCCGGGC	G	BIN1	c.969_980del	NM_139343.3	NP_647593.1:p.(Pro324_Thr327del)	NC_000002.11:g.127816618_127816629del	VUS	1 lab	f5fa7ff0c0
6:51524432 PKHD1 C>T	6	51524432	51524432	C	T	PKHD1	c.10492G>A	NM_138694.4	NP_619639.3:p.(Val3498Ile)	NC_000006.11:g.51524432C>T	(Likely) benign	1 lab	f5fa91a58b
20:55212851 TFAP2C G>A	20	55212851	55212851	G	A	TFAP2C	c.1135G>A	NM_003222.4	NP_003213.1:p.(Ala379Thr)	NC_000020.10:g.55212851G>A	VUS	1 lab	f5fdb00497
2:27679435 IFT172 C>G	2	27679435	27679435	C	G	IFT172	c.3314G>C	NM_015662.3	NP_056477.1:p.(Arg1105Thr)	NC_000002.11:g.27679435C>G	VUS	1 lab	2ebed94791
1:26612032 UBXN11 G>A	1	26612032	26612032	G	A	UBXN11	c.775C>T	NM_001389556.1	NP_001376485.1:p.(Arg259Cys)	NC_000001.10:g.26612032G>A	VUS	1 lab	f5fedcfe9a
20:44520257 CTSA TGC>T	20	44520257	44520259	TGC	T	CTSA	c.51_52del	NM_000308.4	NP_000299.3:p.(Leu18AlafsTer121)	NC_000020.10:g.44520258_44520259del	(Likely) benign	1 lab	f60159a15c
7:75610489 POR A>G	7	75610489	75610489	A	G	POR	c.640A>G	NM_000941.3	NP_000932.3:p.(Asn214Asp)	NC_000007.13:g.75610489A>G	VUS	1 lab	f6034fd94f
11:8640450 TRIM66 C>G	11	8640450	8640450	C	G	TRIM66	c.3966G>C	NM_001388022.1	NP_001374951.1:p.(Glu1322Asp)	NC_000011.9:g.8640450C>G	(Likely) benign	1 lab	f60572aa02
6:169634896 THBS2 G>A	6	169634896	169634896	G	A	THBS2	c.1584C>T	NM_003247.5	NP_003238.2:p.(Tyr528=)	NC_000006.11:g.169634896G>A	(Likely) benign	1 lab	f605d026a1
12:13240977 GSG1 G>A	12	13240977	13240977	G	A	GSG1	c.498C>T	NM_001080555.4	NP_001074024.1:p.(Ser166=)	NC_000012.11:g.13240977G>A	VUS	1 lab	f60606f513
1:976204 AGRN A>C	1	976204	976204	A	C	AGRN	c.671A>C	NM_198576.4	NP_940978.2:p.(Gln224Pro)	NC_000001.10:g.976204A>C	VUS	1 lab	f64a950775
12:18800961 PIK3C2G G>C	12	18800961	18800961	G	C	PIK3C2G	c.4460G>C	NM_001288772.2	NP_001275701.1:p.(Ter1487SerextTer4)	NC_000012.11:g.18800961G>C	(Likely) benign	1 lab	f606fcc26c
11:124747525 ROBO3 A>C	11	124747525	124747525	A	C	ROBO3	c.2957A>C	NM_022370.4	NP_071765.2:p.(Asn986Thr)	NC_000011.9:g.124747525A>C	VUS	1 lab	f6080959b8
8:144994638 PLEC G>A	8	144994638	144994638	G	A	PLEC	c.9351C>T	NM_201384.3	NP_958786.1:p.(Phe3117=)	NC_000008.10:g.144994638G>A	(Likely) benign	1 lab	f6089f85ff
7:26765085 SKAP2 C>G	7	26765085	26765085	C	G	SKAP2	c.758G>C	NM_003930.5	NP_003921.2:p.(Ser253Thr)	NC_000007.13:g.26765085C>G	(Likely) benign	1 lab	f609c2a50d
3:78685111 ROBO1 C>T	3	78685111	78685111	C	T	ROBO1	c.3185G>A	NM_002941.4	NP_002932.1:p.(Arg1062His)	NC_000003.11:g.78685111C>T	(Likely) benign	1 lab	f60caf2e45
18:43459133 EPG5 C>T	18	43459133	43459133	C	T	EPG5	c.5714G>A	NM_020964.3	NP_066015.2:p.(Arg1905Gln)	NC_000018.9:g.43459133C>T	(Likely) pathogenic	1 lab	2ebee83458
1:156108447 LMNA A>G	1	156108447	156108447	A	G	LMNA	c.1867A>G	NM_170707.4	NP_733821.1:p.(Thr623Ala)	NC_000001.10:g.156108447A>G	VUS	1 lab	f60fce1350
9:2039787 SMARCA2 A>C	9	2039787	2039787	A	C	SMARCA2	c.677A>C	NM_003070.5	NP_003061.3:p.(Gln226Pro)	NC_000009.11:g.2039787A>C	(Likely) benign	1 lab	f6108f766b
16:51175288 SALL1 A>C	16	51175288	51175288	A	C	SALL1	c.845T>G	NM_002968.3	NP_002959.2:p.(Leu282Trp)	NC_000016.9:g.51175288A>C	VUS	1 lab	f6126b18b1
X:154091388 F8 G>A	X	154091388	154091388	G	A	F8	c.6544C>T	NM_000132.3	NP_000123.1:p.(Arg2182Cys)	NC_000023.10:g.154091388G>A	(Likely) pathogenic	1 lab	318762c670
16:1813695 MAPK8IP3 G>A	16	1813695	1813695	G	A	MAPK8IP3	c.1936G>A	NM_001318852.2	NP_001305781.1:p.(Glu646Lys)	NC_000016.9:g.1813695G>A	VUS	1 lab	f614c8f5e1
X:7893994 PNPLA4 G>A	X	7893994	7893994	G	A	PNPLA4	c.167C>T	NM_004650.3	NP_004641.1:p.(Pro56Leu)	NC_000023.10:g.7893994G>A	VUS	1 lab	f615bca0a7
5:60628266 ZSWIM6 C>G	5	60628266	60628266	C	G	ZSWIM6	c.167C>G	NM_020928.2	NP_065979.1:p.(Ala56Gly)	NC_000005.9:g.60628266C>G	(Likely) benign	1 lab	f615f79c56
3:71465698 FOXP1 AACAC>A	3	71465698	71465744	AACAC	A	FOXP1	c.-167-57307_-167-57304del	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71465741_71465744del	VUS	1 lab	f6164ba8fa
6:143095854 HIVEP2 G>C	6	143095854	143095854	G	C	HIVEP2	c.22C>G	NM_006734.4	NP_006725.3:p.(Leu8Val)	NC_000006.11:g.143095854G>C	VUS	1 lab	f61748a758
21:47545899 COL6A2 C>T	21	47545899	47545899	C	T	COL6A2	c.2170C>T	NM_058175.2	NP_478055.2:p.(Arg724Cys)	NC_000021.8:g.47545899C>T	(Likely) benign	1 lab	3539b334e5
11:972253 AP2A2 C>T	11	972253	972253	C	T	AP2A2	c.471C>T	NM_012305.4	NP_036437.1:p.(Ala157=)	NC_000011.9:g.972253C>T	VUS	1 lab	f61b386cf1
2:189927974 COL5A2 C>T	2	189927974	189927974	C	T	COL5A2	c.1793G>A	NM_000393.5	NP_000384.2:p.(Arg598His)	NC_000002.11:g.189927974C>T	VUS	1 lab	f61c670967
2:219920471 IHH T>C	2	219920471	219920471	T	C	IHH	c.694A>G	NM_002181.4	NP_002172.2:p.(Met232Val)	NC_000002.11:g.219920471T>C	(Likely) benign	1 lab	f61ea7b320
19:7166376 INSR C>T	19	7166376	7166376	C	T	INSR	c.1650G>A	NM_000208.4	NP_000199.2:p.(Ala550=)	NC_000019.9:g.7166376C>T	(Likely) benign	1 lab	2ec0288f89
9:116930253 COL27A1 G>A	9	116930253	116930253	G	A	COL27A1	c.418G>A	NM_032888.4	NP_116277.2:p.(Gly140Arg)	NC_000009.11:g.116930253G>A	VUS	1 lab	f624e0c9fc
20:10621792 JAG1 G>A	20	10621792	10621792	G	A	JAG1	c.3017C>T	NM_000214.3	NP_000205.1:p.(Pro1006Leu)	NC_000020.10:g.10621792G>A	VUS	1 lab	f627129df3
7:151849873 KMT2C G>A	7	151849873	151849873	G	A	KMT2C	c.12443C>T	NM_170606.3	NP_733751.2:p.(Pro4148Leu)	NC_000007.13:g.151849873G>A	(Likely) benign	1 lab	f62a832f5d
6:52334176 EFHC1 C>T	6	52334176	52334176	C	T	EFHC1	c.1183C>T	NM_018100.4	NP_060570.2:p.(Gln395Ter)	NC_000006.11:g.52334176C>T	VUS	1 lab	f62a9a4246
15:40309410 EIF2AK4 A>C	15	40309410	40309410	A	C	EIF2AK4	c.4032A>C	NM_001013703.4	NP_001013725.2:p.(Glu1344Asp)	NC_000015.9:g.40309410A>C	VUS	1 lab	f62bb78d47
20:464636 CSNK2A1 G>C	20	464636	464636	G	C	CSNK2A1	c.1145C>G	NM_177559.3	NP_808227.1:p.(Pro382Arg)	NC_000020.10:g.464636G>C	(Likely) benign	1 lab	f62df9e491
15:75688728 SIN3A T>C	15	75688728	75688728	T	C	SIN3A	c.1964A>G	NM_001145358.2	NP_001138830.1:p.(Asn655Ser)	NC_000015.9:g.75688728T>C	(Likely) benign	1 lab	f62e740063
16:89804624 FANCA G>C	16	89804624	89804624	G	C	FANCA	c.*385C>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89804624G>C	(Likely) benign	1 lab	f62fa33b0d
X:53245149 KDM5C C>T	X	53245149	53245149	C	T	KDM5C	c.791G>A	NM_004187.5	NP_004178.2:p.(Gly264Glu)	NC_000023.10:g.53245149C>T	VUS	1 lab	f62fe332f4
1:237058778 MTR G>T	1	237058778	237058778	G	T	MTR	c.3526G>T	NM_000254.3	NP_000245.2:p.(Gly1176Cys)	NC_000001.10:g.237058778G>T	VUS	1 lab	f6320e47cf
15:93486299 CHD2 G>T	15	93486299	93486299	G	T	CHD2	c.1052+1G>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93486299G>T	(Likely) pathogenic	1 lab	f632344ce1
11:2591886 KCNQ1 C>T	11	2591886	2591886	C	T	KCNQ1	c.506C>T	NM_000218.3	NP_000209.2:p.(Thr169Met)	NC_000011.9:g.2591886C>T	(Likely) benign	1 lab	f632d32193
15:74368031 GOLGA6A G>A	15	74368031	74368031	G	A	GOLGA6A	c.752C>T	NM_001038640.2	NP_001033729.2:p.(Ser251Leu)	NC_000015.9:g.74368031G>A	(Likely) benign	1 lab	f634003c61
9:17859 WASHC1 A>G	9	17859	17859	A	G	WASHC1	c.409-4T>C	NM_001378090.1	NP_001365019.1:p.?	NC_000009.11:g.17859A>G	(Likely) benign	1 lab	f634fe65bd
19:17397456 ANKLE1 GGTGTGTGTGTGT>G	19	17397456	17397500	GGTGTGTGTGTGT	G	ANKLE1	c.*128_*139del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397489_17397500del	(Likely) benign	1 lab	f6360e5e20
16:28914762 ATP2A1 G>A	16	28914762	28914762	G	A	ATP2A1	c.2980+1G>A	NM_004320.6	NP_004311.1:p.?	NC_000016.9:g.28914762G>A	VUS	1 lab	f637436fd6
21:47532405 COL6A2 G>A	21	47532405	47532405	G	A	COL6A2	c.628G>A	NM_001849.4	NP_001840.3:p.(Glu210Lys)	NC_000021.8:g.47532405G>A	(Likely) benign	1 lab	f637f4de10
20:47991043 KCNB1 C>A	20	47991043	47991043	C	A	KCNB1	c.1054G>T	NM_004975.4	NP_004966.1:p.(Ala352Ser)	NC_000020.10:g.47991043C>A	VUS	1 lab	f63a488cf3
4:5755619 EVC G>A	4	5755619	5755619	G	A	EVC	c.1423G>A	NM_153717.3	NP_714928.1:p.(Ala475Thr)	NC_000004.11:g.5755619G>A	(Likely) benign	1 lab	f63b17f827
2:27599384 SNX17 C>G	2	27599384	27599384	C	G	SNX17	c.1296C>G	NM_014748.4	NP_055563.1:p.(Leu432=)	NC_000002.11:g.27599384C>G	VUS	1 lab	f63b1edd54
16:88926356 TRAPPC2L A>G	16	88926356	88926356	A	G	TRAPPC2L	c.350A>G	NM_001318525.2	NP_001305454.1:p.(Asn117Ser)	NC_000016.9:g.88926356A>G	(Likely) benign	1 lab	f63b60c4fa
17:11687031 DNAH9 C>T	17	11687031	11687031	C	T	DNAH9	c.7787C>T	NM_001372.4	NP_001363.2:p.(Thr2596Met)	NC_000017.10:g.11687031C>T	VUS	1 lab	f63be31a80
7:76112329 DTX2 C>T	7	76112329	76112329	C	T	DTX2	c.773C>T	NM_001102594.3	NP_001096064.1:p.(Ala258Val)	NC_000007.13:g.76112329C>T	VUS	1 lab	f63beec197
2:240036951 HDAC4 G>A	2	240036951	240036951	G	A	HDAC4	c.1589C>T	NM_001378414.1	NP_001365343.1:p.(Thr530Met)	NC_000002.11:g.240036951G>A	VUS	1 lab	f63c322a29
X:31462653 DMD G>A	X	31462653	31462653	G	A	DMD	c.9029C>T	NM_004006.3	NP_003997.2:p.(Ser3010Leu)	NC_000023.10:g.31462653G>A	VUS	1 lab	f63cb25737
7:42088269 GLI3 G>A	7	42088269	42088269	G	A	GLI3	c.500C>T	NM_000168.6	NP_000159.3:p.(Thr167Met)	NC_000007.13:g.42088269G>A	VUS	1 lab	f63cf91c6c
X:99657767 PCDH19 G>A	X	99657767	99657767	G	A	PCDH19	c.2371C>T	NM_001184880.2	NP_001171809.1:p.(Arg791Trp)	NC_000023.10:g.99657767G>A	VUS	1 lab	f63d38385a
13:110826289 COL4A1 T>C	13	110826289	110826289	T	C	COL4A1	c.3463A>G	NM_001845.6	NP_001836.3:p.(Ser1155Gly)	NC_000013.10:g.110826289T>C	(Likely) benign	1 lab	f63d6b6a9c
17:8384692 MYH10 C>T	17	8384692	8384692	C	T	MYH10	c.5212G>A	NM_001256012.3	NP_001242941.1:p.(Glu1738Lys)	NC_000017.10:g.8384692C>T	VUS	1 lab	f63df65ba4
6:70428861 LMBRD1 G>A	6	70428861	70428861	G	A	LMBRD1	c.749C>T	NM_018368.4	NP_060838.3:p.(Thr250Met)	NC_000006.11:g.70428861G>A	(Likely) benign	1 lab	f63e18c21b
2:152534441 NEB A>G	2	152534441	152534441	A	G	NEB	c.3516T>C	NM_001164508.2	NP_001157980.2:p.(Pro1172=)	NC_000002.11:g.152534441A>G	(Likely) benign	1 lab	f63fcc3fb7
18:42533181 SETBP1 C>G	18	42533181	42533181	C	G	SETBP1	c.3876C>G	NM_015559.3	NP_056374.2:p.(Asp1292Glu)	NC_000018.9:g.42533181C>G	(Likely) benign	1 lab	f6409e509b
15:63916476 HERC1 T>C	15	63916476	63916476	T	C	HERC1	c.13326A>G	NM_003922.4	NP_003913.3:p.(Gln4442=)	NC_000015.9:g.63916476T>C	(Likely) benign	1 lab	f64107d02f
5:176795245 RGS14 C>A	5	176795245	176795245	C	A	RGS14	c.827C>A	NM_006480.5	NP_006471.2:p.(Ala276Asp)	NC_000005.9:g.176795245C>A	VUS	1 lab	f64143c461
2:217279768 SMARCAL1 G>A	2	217279768	217279768	G	A	SMARCAL1	c.341G>A	NM_014140.3	NP_054859.2:p.(Arg114His)	NC_000002.11:g.217279768G>A	(Likely) benign	1 lab	318816fffc
16:703622 WDR90 G>A	16	703622	703622	G	A	WDR90	c.1331G>A	NM_145294.5	NP_660337.3:p.(Arg444Gln)	NC_000016.9:g.703622G>A	(Likely) benign	1 lab	f64183de70
10:121587065 INPP5F T>C	10	121587065	121587065	T	C	INPP5F	c.3172T>C	NM_014937.4	NP_055752.1:p.(Ser1058Pro)	NC_000010.10:g.121587065T>C	VUS	1 lab	f641cdbfde
13:42293738 VWA8 C>G	13	42293738	42293738	C	G	VWA8	c.3105G>C	NM_015058.2	NP_055873.1:p.(Gln1035His)	NC_000013.10:g.42293738C>G	VUS	1 lab	f641cea281
2:179581989 TTN T>G	2	179581989	179581989	T	G	TTN	c.25472A>C	NM_001267550.2	NP_001254479.2:p.(Lys8491Thr)	NC_000002.11:g.179581989T>G	VUS	1 lab	2ec203f64f
16:2029312 TBL3 A>C	16	2029312	2029312	A	C	TBL3	c.*626A>C	NM_006453.3	NP_006444.2:p.?	NC_000016.9:g.2029312A>C	VUS	1 lab	f642727e74
19:50321740 MED25 C>T	19	50321740	50321740	C	T	MED25	c.134+8C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50321740C>T	(Likely) benign	1 lab	f6430a06f3
17:47117430 IGF2BP1 T>A	17	47117430	47117430	T	A	IGF2BP1	c.795T>A	NM_006546.4	NP_006537.3:p.(His265Gln)	NC_000017.10:g.47117430T>A	(Likely) benign	1 lab	f643a7551a
9:109692959 ZNF462 G>C	9	109692959	109692959	G	C	ZNF462	c.6001G>C	NM_021224.6	NP_067047.4:p.(Ala2001Pro)	NC_000009.11:g.109692959G>C	(Likely) benign	1 lab	f643f81fc4
1:220154190 EPRS1 A>T	1	220154190	220154190	A	T	EPRS1	c.3463T>A	NM_004446.3	NP_004437.2:p.(Phe1155Ile)	NC_000001.10:g.220154190A>T	VUS	1 lab	f645349bf8
19:5694404 LONP1 C>A	19	5694404	5694404	C	A	LONP1	c.2314G>T	NM_004793.4	NP_004784.2:p.(Ala772Ser)	NC_000019.9:g.5694404C>A	(Likely) benign	1 lab	f6461ccf91
1:245318789 KIF26B G>A	1	245318789	245318789	G	A	KIF26B	c.63G>A	NM_018012.4	NP_060482.2:p.(Gly21=)	NC_000001.10:g.245318789G>A	(Likely) benign	1 lab	f647731270
X:107453230 COL4A6 T>TC	X	107453230	107453235	T	TC	COL4A6	c.514dup	NM_033641.4	NP_378667.1:p.(Asp172GlyfsTer44)	NC_000023.10:g.107453235dup	VUS	1 lab	f64908908d
5:171766826 SH3PXD2B G>A	5	171766826	171766826	G	A	SH3PXD2B	c.1283C>T	NM_001017995.3	NP_001017995.1:p.(Thr428Met)	NC_000005.9:g.171766826G>A	VUS	1 lab	f64a8be182
6:157099426 ARID1B A>AG	6	157099426	157099427	A	AG	ARID1B	c.612_613insG	NM_001374828.1	NP_001361757.1:p.(Gln205AlafsTer110)	NC_000006.11:g.157099426_157099427insG	(Likely) benign	1 lab	f64a919a5f
11:31811490 PAX6 A>T	11	31811490	31811490	A	T	PAX6	c.1303T>A	NM_001368894.2	NP_001355823.1:p.(Leu435Ile)	NC_000011.9:g.31811490A>T	(Likely) benign	1 lab	f64b06ab87
20:60903354 LAMA5 C>T	20	60903354	60903354	C	T	LAMA5	c.4595G>A	NM_005560.6	NP_005551.3:p.(Gly1532Glu)	NC_000020.10:g.60903354C>T	(Likely) benign	1 lab	f64b315c6c
X:31950262 DMD T>C	X	31950262	31950262	T	C	DMD	c.6697A>G	NM_004006.3	NP_003997.2:p.(Ile2233Val)	NC_000023.10:g.31950262T>C	(Likely) benign	1 lab	f656497b9b
14:64688418 SYNE2 TAATGGTA>T	14	64688418	64688426	TAATGGTA	T	SYNE2	c.20188_20190+4del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64688420_64688426del	VUS	1 lab	2ec20b209c
19:1453519 APC2 A>C	19	1453519	1453519	A	C	APC2	c.322A>C	NM_005883.3	NP_005874.1:p.(Ser108Arg)	NC_000019.9:g.1453519A>C	VUS	1 lab	f69c77fb8f
4:9982251 SLC2A9 C>T	4	9982251	9982251	C	T	SLC2A9	c.646G>A	NM_020041.3	NP_064425.2:p.(Gly216Arg)	NC_000004.11:g.9982251C>T	(Likely) pathogenic	1 lab	318896fc50
16:8866661 ABAT C>G	16	8866661	8866661	C	G	ABAT	c.841C>G	NM_020686.6	NP_065737.2:p.(Arg281Gly)	NC_000016.9:g.8866661C>G	VUS	1 lab	f64e6f0f84
11:103151151 DYNC2H1 A>G	11	103151151	103151151	A	G	DYNC2H1	c.10761+9A>G	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103151151A>G	(Likely) benign	1 lab	f64e8252b8
8:144990455 PLEC C>T	8	144990455	144990455	C	T	PLEC	c.13534G>A	NM_201384.3	NP_958786.1:p.(Gly4512Ser)	NC_000008.10:g.144990455C>T	(Likely) benign	1 lab	f64ecfa4d6
3:49398505 RHOA C>CAA	3	49398505	49398513	C	CAA	RHOA	c.409-692_409-691dup	NM_001664.4	NP_001655.1:p.?	NC_000003.11:g.49398512_49398513dup	(Likely) benign	1 lab	f650b5bcd8
12:23818446 SOX5 C>G	12	23818446	23818446	C	G	SOX5	c.863G>C	NM_006940.6	NP_008871.3:p.(Arg288Pro)	NC_000012.11:g.23818446C>G	VUS	1 lab	f6526b8646
X:151358195 GABRA3 A>G	X	151358195	151358195	A	G	GABRA3	c.1143+7T>C	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151358195A>G	(Likely) benign	1 lab	f6528fecb0
2:73681197 ALMS1 A>G	2	73681197	73681197	A	G	ALMS1	c.7540+3A>G	NM_001378454.1	NP_001365383.1:p.?	NC_000002.11:g.73681197A>G	VUS	1 lab	f6529c3de9
17:74004307 EVPL C>T	17	74004307	74004307	C	T	EVPL	c.4979G>A	NM_001988.4	NP_001979.2:p.(Arg1660Gln)	NC_000017.10:g.74004307C>T	VUS	1 lab	f653bb0023
8:70533373 SULF1 C>G	8	70533373	70533373	C	G	SULF1	c.1481C>G	NM_001128205.2	NP_001121677.1:p.(Ala494Gly)	NC_000008.10:g.70533373C>G	VUS	1 lab	f655554c60
8:61778431 CHD7 G>A	8	61778431	61778431	G	A	CHD7	c.8933G>A	NM_017780.4	NP_060250.2:p.(Gly2978Asp)	NC_000008.10:g.61778431G>A	(Likely) benign	1 lab	f66dc0a7be
2:220412348 TMEM198 C>G	2	220412348	220412348	C	G	TMEM198	c.287C>G	NM_001005209.3	NP_001005209.1:p.(Ala96Gly)	NC_000002.11:g.220412348C>G	(Likely) benign	1 lab	f6558aa62e
2:74605306 DCTN1 C>G	2	74605306	74605306	C	G	DCTN1	c.100G>C	NM_004082.5	NP_004073.2:p.(Glu34Gln)	NC_000002.11:g.74605306C>G	VUS	1 lab	f655a1c4b4
3:100529275 ABI3BP A>T	3	100529275	100529275	A	T	ABI3BP	c.3588T>A	NM_001375547.2	NP_001362476.1:p.(Asp1196Glu)	NC_000003.11:g.100529275A>T	VUS	1 lab	f656ad18d4
19:47260162 FKRP C>A	19	47260162	47260162	C	A	FKRP	c.1455C>A	NM_024301.5	NP_077277.1:p.(Asn485Lys)	NC_000019.9:g.47260162C>A	VUS	1 lab	f6c8f11209
7:151937376 KMT2C T>C	7	151937376	151937376	T	C	KMT2C	c.2533-1465A>G	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151937376T>C	(Likely) benign	1 lab	f656ef2f12
12:31237510 DDX11 C>T	12	31237510	31237510	C	T	DDX11	c.394-7C>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31237510C>T	(Likely) benign	1 lab	f6589e1be2
20:61981231 CHRNA4 G>A	20	61981231	61981231	G	A	CHRNA4	c.1532C>T	NM_000744.7	NP_000735.1:p.(Ala511Val)	NC_000020.10:g.61981231G>A	(Likely) benign	1 lab	f658de67bc
7:151945553 KMT2C C>T	7	151945553	151945553	C	T	KMT2C	c.1966G>A	NM_170606.3	NP_733751.2:p.(Val656Ile)	NC_000007.13:g.151945553C>T	(Likely) benign	1 lab	f659bbf35e
21:47570043 FTCD C>T	21	47570043	47570043	C	T	FTCD	c.896G>A	NM_206965.2	NP_996848.1:p.(Arg299Gln)	NC_000021.8:g.47570043C>T	VUS	1 lab	f65ad86398
20:18513328 SEC23B T>G	20	18513328	18513328	T	G	SEC23B	c.1254T>G	NM_006363.6	NP_006354.2:p.(Ile418Met)	NC_000020.10:g.18513328T>G	(Likely) benign	1 lab	f65b264401
19:51412666 KLK4 C>A	19	51412666	51412666	C	A	KLK4	c.66G>T	NM_004917.4	NP_004908.4:p.(Ser22=)	NC_000019.9:g.51412666C>A	(Likely) benign	1 lab	2ec20d9134
4:191003329 MISSING C>A	4	191003329	191003329	C	A	MISSING				NC_000004.11:g.191003329C>A	VUS	1 lab	f65d864726
12:121435474 HNF1A C>T	12	121435474	121435474	C	T	HNF1A	c.1501+6C>T	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121435474C>T	(Likely) benign	1 lab	f65e217b2f
12:122353791 PSMD9 G>A	12	122353791	122353791	G	A	PSMD9	c.585G>A	NM_002813.7	NP_002804.2:p.(Arg195=)	NC_000012.11:g.122353791G>A	VUS	1 lab	f65e70e7fa
15:34080645 RYR3 C>T	15	34080645	34080645	C	T	RYR3	c.9816C>T	NM_001036.6	NP_001027.3:p.(Tyr3272=)	NC_000015.9:g.34080645C>T	(Likely) benign	1 lab	f65eb5b969
9:117051015 COL27A1 C>A	9	117051015	117051015	C	A	COL27A1	c.4078C>A	NM_032888.4	NP_116277.2:p.(Pro1360Thr)	NC_000009.11:g.117051015C>A	VUS	1 lab	f65ef4216c
2:166231443 SCN2A C>A	2	166231443	166231443	C	A	SCN2A	c.4221C>A	NM_001040142.2	NP_001035232.1:p.(Asn1407Lys)	NC_000002.11:g.166231443C>A	VUS	1 lab	f65fb99079
13:28498579 PDX1 G>A	13	28498579	28498579	G	A	PDX1	c.593G>A	NM_000209.4	NP_000200.1:p.(Arg198His)	NC_000013.10:g.28498579G>A	(Likely) pathogenic	1 lab	f6623214a5
3:119132916 ARHGAP31 C>T	3	119132916	119132916	C	T	ARHGAP31	c.2140C>T	NM_020754.4	NP_065805.2:p.(Pro714Ser)	NC_000003.11:g.119132916C>T	(Likely) benign	1 lab	f6639e98d3
7:31008691 GHRHR C>A	7	31008691	31008691	C	A	GHRHR	c.174C>A	NM_000823.4	NP_000814.2:p.(Thr58=)	NC_000007.13:g.31008691C>A	(Likely) benign	1 lab	f6671c8d16
19:18900929 COMP G>C	19	18900929	18900929	G	C	COMP	c.218-6C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900929G>C	(Likely) benign	1 lab	f66955aac9
X:12701683 FRMPD4 G>A	X	12701683	12701683	G	A	FRMPD4	c.550G>A	NM_001368397.1	NP_001355326.1:p.(Val184Ile)	NC_000023.10:g.12701683G>A	(Likely) pathogenic	1 lab	f66b4c74db
17:48246607 SGCA G>A	17	48246607	48246607	G	A	SGCA	c.739G>A	NM_000023.4	NP_000014.1:p.(Val247Met)	NC_000017.10:g.48246607G>A	(Likely) pathogenic	1 lab	f66b58ce8e
11:62459888 BSCL2 C>T	11	62459888	62459888	C	T	BSCL2	c.823G>A	NM_001122955.4	NP_001116427.1:p.(Gly275Arg)	NC_000011.9:g.62459888C>T	(Likely) benign	1 lab	f66d0db024
2:33487873 LTBP1 C>A	2	33487873	33487873	C	A	LTBP1	c.2503C>A	NM_206943.4	NP_996826.3:p.(His835Asn)	NC_000002.11:g.33487873C>A	(Likely) benign	1 lab	f66d283f41
16:3707176 DNASE1 G>A	16	3707176	3707176	G	A	DNASE1	c.550-12G>A	NM_005223.3	NP_005214.2:p.?	NC_000016.9:g.3707176G>A	(Likely) benign	1 lab	31904590c0
X:141291479 MAGEC2 G>A	X	141291479	141291479	G	A	MAGEC2	c.295C>T	NM_016249.4	NP_057333.1:p.(Pro99Ser)	NC_000023.10:g.141291479G>A	VUS	1 lab	f66e673cc4
10:28824265 WAC T>G	10	28824265	28824265	T	G	WAC	c.79-226T>G	NM_016628.5	NP_057712.2:p.?	NC_000010.10:g.28824265T>G	(Likely) benign	1 lab	f672594857
17:26851004 FOXN1 C>T	17	26851004	26851004	C	T	FOXN1	c.17C>T	NM_001369369.1	NP_001356298.1:p.(Pro6Leu)	NC_000017.10:g.26851004C>T	VUS	1 lab	f672b8f42f
16:30100527 TBX6 T>C	16	30100527	30100527	T	C	TBX6	c.358A>G	NM_004608.4	NP_004599.2:p.(Met120Val)	NC_000016.9:g.30100527T>C	VUS	1 lab	f673b2fffc
6:26204978 H4C5 C>T	6	26204978	26204978	C	T	H4C5	c.106C>T	NM_003545.4	NP_003536.1:p.(Arg36Trp)	NC_000006.11:g.26204978C>T	(Likely) pathogenic	1 lab	f674047335
4:108866306 CYP2U1 T>C	4	108866306	108866306	T	C	CYP2U1	c.671T>C	NM_183075.3	NP_898898.1:p.(Ile224Thr)	NC_000004.11:g.108866306T>C	VUS	1 lab	f67458669d
11:78277323 NARS2 C>T	11	78277323	78277323	C	T	NARS2	c.373-5G>A	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78277323C>T	VUS	1 lab	f674fec186
3:131102189 NUDT16 C>T	3	131102189	131102189	C	T	NUDT16	c.*4C>T	NM_152395.3	NP_689608.2:p.?	NC_000003.11:g.131102189C>T	VUS	1 lab	f6755fac6e
16:1402124 GNPTG C>A	16	1402124	1402124	C	A	GNPTG	c.74C>A	NM_032520.5	NP_115909.1:p.(Ala25Glu)	NC_000016.9:g.1402124C>A	(Likely) benign	1 lab	f675626177
17:56056604 VEZF1 T>TTGC	17	56056604	56056644	T	TTGC	VEZF1	c.1044_1046dup	NM_007146.3	NP_009077.2:p.(Gln354dup)	NC_000017.10:g.56056642_56056644dup	VUS	1 lab	f6774f6d73
18:56037342 NEDD4L C>T	18	56037342	56037342	C	T	NEDD4L	c.2186-287C>T	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56037342C>T	(Likely) benign	1 lab	f677bfd601
2:26624964 DRC1 T>TC	2	26624964	26624966	T	TC	DRC1	c.109dup	NM_145038.5	NP_659475.2:p.(Gln37ProfsTer30)	NC_000002.11:g.26624966dup	(Likely) pathogenic	1 lab	f67a051c94
4:57776985 REST AGCT>A	4	57776985	57776992	AGCT	A	REST	c.186_188del	NM_005612.5	NP_005603.3:p.(Cys63del)	NC_000004.11:g.57776990_57776992del	(Likely) benign	1 lab	f67a4d054b
11:17191359 PIK3C2A C>T	11	17191359	17191359	C	T	PIK3C2A	c.-65-6G>A	NM_002645.4	NP_002636.2:p.?	NC_000011.9:g.17191359C>T	(Likely) benign	1 lab	f67ae21b4b
2:109357034 RANBP2 T>C	2	109357034	109357034	T	C	RANBP2	c.872T>C	NM_006267.5	NP_006258.3:p.(Met291Thr)	NC_000002.11:g.109357034T>C	VUS	1 lab	f67b9877cf
14:50649318 SOS2 C>T	14	50649318	50649318	C	T	SOS2	c.721G>A	NM_006939.4	NP_008870.2:p.(Glu241Lys)	NC_000014.8:g.50649318C>T	VUS	1 lab	f67c9e4988
18:77477623 CTDP1 C>A	18	77477623	77477623	C	A	CTDP1	c.2157C>A	NM_004715.5	NP_004706.3:p.(Asp719Glu)	NC_000018.9:g.77477623C>A	VUS	1 lab	f67ebdd95c
2:179596527 TTN A>G	2	179596527	179596527	A	G	TTN	c.17075T>C	NM_001267550.2	NP_001254479.2:p.(Val5692Ala)	NC_000002.11:g.179596527A>G	VUS	1 lab	f6828fb9f8
X:153295939 MECP2 G>A	X	153295939	153295939	G	A	MECP2	c.1340C>T	NM_004992.3	NP_004983.1:p.(Ala447Val)	NC_000023.10:g.153295939G>A	VUS	1 lab	3192c6ca63
17:7096796 DLG4 A>G	17	7096796	7096796	A	G	DLG4	c.1693+6T>C	NM_001321075.3	NP_001308004.1:p.?	NC_000017.10:g.7096796A>G	VUS	1 lab	f683ebec93
11:65352484 EHBP1L1 A>G	11	65352484	65352484	A	G	EHBP1L1	c.3355A>G	NM_001099409.3	NP_001092879.1:p.(Met1119Val)	NC_000011.9:g.65352484A>G	VUS	1 lab	f685038a33
19:48197637 BICRA C>T	19	48197637	48197637	C	T	BICRA	c.2549C>T	NM_001394372.1	NP_001381301.1:p.(Pro850Leu)	NC_000019.9:g.48197637C>T	VUS	1 lab	f685d95254
14:54417246 BMP4 G>A	14	54417246	54417246	G	A	BMP4	c.731C>T	NM_001202.6	NP_001193.2:p.(Thr244Ile)	NC_000014.8:g.54417246G>A	VUS	1 lab	f689896161
5:126140590 LMNB1 G>C	5	126140590	126140590	G	C	LMNB1	c.482G>C	NM_005573.4	NP_005564.1:p.(Gly161Ala)	NC_000005.9:g.126140590G>C	(Likely) benign	1 lab	f689a716e7
5:141334620 PCDH12 G>A	5	141334620	141334620	G	A	PCDH12	c.2797C>T	NM_016580.4	NP_057664.1:p.(Arg933Trp)	NC_000005.9:g.141334620G>A	VUS	1 lab	f68a4d49c0
10:27322303 ANKRD26 C>G	10	27322303	27322303	C	G	ANKRD26	c.3658G>C	NM_014915.3	NP_055730.2:p.(Val1220Leu)	NC_000010.10:g.27322303C>G	(Likely) benign	1 lab	f68a8b5c5e
16:70553559 COG4 G>A	16	70553559	70553559	G	A	COG4	c.247C>T	NM_015386.3	NP_056201.2:p.(Arg83Ter)	NC_000016.9:g.70553559G>A	VUS	1 lab	f68bc36bb8
3:189590644 TP63 A>G	3	189590644	189590644	A	G	TP63	c.1213-4A>G	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189590644A>G	(Likely) benign	1 lab	f68c5c918e
11:17417403 ABCC8 G>A	11	17417403	17417403	G	A	ABCC8	c.4194C>T	NM_000352.6	NP_000343.2:p.(Phe1398=)	NC_000011.9:g.17417403G>A	(Likely) benign	1 lab	f68d3ea6cc
4:110723017 CFI T>C	4	110723017	110723017	T	C	CFI	c.57+54A>G	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110723017T>C	(Likely) benign	1 lab	3193cb8645
13:78474776 EDNRB G>C	13	78474776	78474776	G	C	EDNRB	c.965C>G	NM_001122659.3	NP_001116131.1:p.(Ala322Gly)	NC_000013.10:g.78474776G>C	VUS	1 lab	f68f2eb64c
2:179577248 TTN G>A	2	179577248	179577248	G	A	TTN	c.27401C>T	NM_001267550.2	NP_001254479.2:p.(Thr9134Ile)	NC_000002.11:g.179577248G>A	VUS	1 lab	f68f777177
16:30990904 SETD1A G>A	16	30990904	30990904	G	A	SETD1A	c.3797G>A	NM_014712.3	NP_055527.1:p.(Arg1266His)	NC_000016.9:g.30990904G>A	(Likely) benign	1 lab	f69046d642
11:823745 PNPLA2 A>C	11	823745	823745	A	C	PNPLA2	c.809A>C	NM_020376.4	NP_065109.1:p.(His270Pro)	NC_000011.9:g.823745A>C	(Likely) benign	1 lab	f6905921ed
5:60628173 ZSWIM6 G>GC	5	60628173	60628174	G	GC	ZSWIM6	c.74_75insC	NM_020928.2	NP_065979.1:p.(Ser27GlnfsTer73)	NC_000005.9:g.60628173_60628174insC	VUS	1 lab	f690723903
11:10875186 ZBED5 G>C	11	10875186	10875186	G	C	ZBED5	c.1307C>G	NM_001143667.2	NP_001137139.1:p.(Ser436Cys)	NC_000011.9:g.10875186G>C	VUS	1 lab	f69185a926
15:56403151 RFX7 T>C	15	56403151	56403151	T	C	RFX7	c.402-7283A>G	NM_022841.7	NP_073752.6:p.?	NC_000015.9:g.56403151T>C	VUS	1 lab	f691aed1ce
15:41247949 CHAC1 G>A	15	41247949	41247949	G	A	CHAC1	c.646G>A	NM_024111.6	NP_077016.3:p.(Glu216Lys)	NC_000015.9:g.41247949G>A	(Likely) benign	1 lab	f69295effb
3:124952248 ZNF148 T>C	3	124952248	124952248	T	C	ZNF148	c.1322A>G	NM_021964.3	NP_068799.2:p.(Asn441Ser)	NC_000003.11:g.124952248T>C	VUS	1 lab	f6935fadba
6:157527299 ARID1B A>G	6	157527299	157527299	A	G	ARID1B	c.5395-2A>G	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157527299A>G	(Likely) pathogenic	1 lab	f696738ce9
5:152871837 GRIA1 T>C	5	152871837	152871837	T	C	GRIA1	c.82+1307T>C	NM_000827.4	NP_000818.2:p.?	NC_000005.9:g.152871837T>C	(Likely) benign	1 lab	f6978fd6a5
19:18896821 COMP C>T	19	18896821	18896821	C	T	COMP	c.1443G>A	NM_000095.3	NP_000086.2:p.(Arg481=)	NC_000019.9:g.18896821C>T	(Likely) benign	1 lab	f698b5e9c9
1:225569142 DNAH14 G>A	1	225569142	225569142	G	A	DNAH14	c.12938G>A	NM_001367479.1	NP_001354408.1:p.(Arg4313Gln)	NC_000001.10:g.225569142G>A	VUS	1 lab	f699f1b27c
X:49079414 CACNA1F G>A	X	49079414	49079414	G	A	CACNA1F	c.2059C>T	NM_001256789.3	NP_001243718.1:p.(Pro687Ser)	NC_000023.10:g.49079414G>A	VUS	1 lab	f69ac240b7
7:21778402 DNAH11 G>A	7	21778402	21778402	G	A	DNAH11	c.7729G>A	NM_001277115.2	NP_001264044.1:p.(Asp2577Asn)	NC_000007.13:g.21778402G>A	VUS	1 lab	f69e7e90ed
15:33941368 RYR3 G>C	15	33941368	33941368	G	C	RYR3	c.4074G>C	NM_001036.6	NP_001027.3:p.(Lys1358Asn)	NC_000015.9:g.33941368G>C	(Likely) benign	1 lab	f69f01ac88
11:4112773 STIM1 C>G	11	4112773	4112773	C	G	STIM1	c.1896C>G	NM_001382567.1	NP_001369496.1:p.(Pro632=)	NC_000011.9:g.4112773C>G	(Likely) benign	1 lab	f6a07c3cb6
X:54837396 MAGED2 G>A	X	54837396	54837396	G	A	MAGED2	c.680G>A	NM_177433.3	NP_803182.1:p.(Arg227His)	NC_000023.10:g.54837396G>A	(Likely) benign	1 lab	f6a1384074
3:114099625 ZBTB20 G>A	3	114099625	114099625	G	A	ZBTB20	c.10C>T	NM_001348800.3	NP_001335729.1:p.(Arg4Trp)	NC_000003.11:g.114099625G>A	(Likely) benign	1 lab	f6a1c4af7f
16:354413 AXIN1 C>T	16	354413	354413	C	T	AXIN1	c.1145G>A	NM_003502.4	NP_003493.1:p.(Arg382His)	NC_000016.9:g.354413C>T	(Likely) benign	1 lab	f6a2abb8b8
5:140019374 TMCO6 A>C	5	140019374	140019374	A	C	TMCO6	c.136A>C	NM_018502.5	NP_060972.3:p.(Arg46=)	NC_000005.9:g.140019374A>C	(Likely) benign	1 lab	f6a3ec0120
13:23912271 SACS T>C	13	23912271	23912271	T	C	SACS	c.5744A>G	NM_014363.6	NP_055178.3:p.(His1915Arg)	NC_000013.10:g.23912271T>C	VUS	1 lab	f6b0afdada
7:73245893 CLDN4 C>G	7	73245893	73245893	C	G	CLDN4	c.362C>G	NM_001305.5	NP_001296.1:p.(Ala121Gly)	NC_000007.13:g.73245893C>G	VUS	1 lab	2ec2f8f668
5:41195939 C6 G>A	5	41195939	41195939	G	A	C6	c.542C>T	NM_000065.5	NP_000056.2:p.(Thr181Ile)	NC_000005.9:g.41195939G>A	(Likely) benign	1 lab	f6a78e9857
4:83294803 HNRNPD C>T	4	83294803	83294803	C	T	HNRNPD	c.29G>A	NM_031370.3	NP_112738.1:p.(Gly10Glu)	NC_000004.11:g.83294803C>T	(Likely) benign	1 lab	f6a83dcc9c
X:16672630 S100G T>C	X	16672630	16672630	T	C	S100G	c.238T>C	NM_004057.3	NP_004048.1:p.(Ter80ArgextTer31)	NC_000023.10:g.16672630T>C	VUS	1 lab	f6a8b44db9
9:20885169 FOCAD CAG>C	9	20885169	20885172	CAG	C	FOCAD	c.2567_2568del	NM_001375567.1	NP_001362496.1:p.(Arg856ThrfsTer19)	NC_000009.11:g.20885171_20885172del	(Likely) pathogenic	1 lab	f6a94142fc
16:30390027 SEPTIN1 G>A	16	30390027	30390027	G	A	SEPTIN1	c.942-6C>T	NM_001365977.2	NP_001352906.1:p.?	NC_000016.9:g.30390027G>A	(Likely) benign	1 lab	f6a9911d4c
15:90216482 PLIN1 G>A	15	90216482	90216482	G	A	PLIN1	c.209C>T	NM_002666.5	NP_002657.3:p.(Ala70Val)	NC_000015.9:g.90216482G>A	VUS	1 lab	f6ab26187f
3:184064560 CLCN2 G>C	3	184064560	184064560	G	C	CLCN2	c.2531C>G	NM_004366.6	NP_004357.3:p.(Thr844Arg)	NC_000003.11:g.184064560G>C	VUS	1 lab	f6ab6e1f2b
8:62496508 ASPH T>C	8	62496508	62496508	T	C	ASPH	c.1057A>G	NM_004318.4	NP_004309.2:p.(Lys353Glu)	NC_000008.10:g.62496508T>C	VUS	1 lab	f6acac9b70
4:1807506 FGFR3 G>C	4	1807506	1807506	G	C	FGFR3	c.1675G>C	NM_000142.5	NP_000133.1:p.(Ala559Pro)	NC_000004.11:g.1807506G>C	VUS	1 lab	f6acb39f26
3:171405198 PLD1 G>A	3	171405198	171405198	G	A	PLD1	c.1716C>T	NM_002662.5	NP_002653.1:p.(His572=)	NC_000003.11:g.171405198G>A	(Likely) benign	1 lab	f6acf3271a
5:149357697 SLC26A2 CTG>C	5	149357697	149357701	CTG	C	SLC26A2	c.485_486del	NM_000112.4	NP_000103.2:p.(Val162GlyfsTer12)	NC_000005.9:g.149357700_149357701del	(Likely) pathogenic	1 lab	f6adea0f1f
17:65909017 BPTF G>A	17	65909017	65909017	G	A	BPTF	c.5017G>A	NM_182641.4	NP_872579.2:p.(Val1673Ile)	NC_000017.10:g.65909017G>A	(Likely) benign	1 lab	f6af21afa4
X:8138276 VCX2 C>T	X	8138276	8138276	C	T	VCX2	c.217G>A	NM_016378.3	NP_057462.2:p.(Ala73Thr)	NC_000023.10:g.8138276C>T	(Likely) benign	1 lab	f6b271baca
7:87792334 ADAM22 C>A	7	87792334	87792334	C	A	ADAM22	c.1915C>A	NM_001324418.2	NP_001311347.1:p.(His639Asn)	NC_000007.13:g.87792334C>A	(Likely) pathogenic	1 lab	f6b3d64c64
X:118123548 LONRF3 A>G	X	118123548	118123548	A	G	LONRF3	c.1237A>G	NM_001031855.3	NP_001027026.1:p.(Thr413Ala)	NC_000023.10:g.118123548A>G	(Likely) benign	1 lab	f6b559dbad
10:71902505 TYSND1 C>T	10	71902505	71902505	C	T	TYSND1	c.1402G>A	NM_173555.4	NP_775826.2:p.(Val468Ile)	NC_000010.10:g.71902505C>T	(Likely) benign	1 lab	f6b624ad78
9:94486945 ROR2 C>T	9	94486945	94486945	C	T	ROR2	c.1831G>A	NM_004560.4	NP_004551.2:p.(Val611Met)	NC_000009.11:g.94486945C>T	(Likely) benign	1 lab	f6b7a5175b
1:45974520 MMACHC G>A	1	45974520	45974520	G	A	MMACHC	c.482G>A	NM_015506.3	NP_056321.2:p.(Arg161Gln)	NC_000001.10:g.45974520G>A	(Likely) pathogenic	1 lab	f6b7af483d
16:1497720 CLCN7 A>G	16	1497720	1497720	A	G	CLCN7	c.2014-5T>C	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1497720A>G	(Likely) benign	1 lab	f6b8741e7d
9:140126110 SLC34A3 C>T	9	140126110	140126110	C	T	SLC34A3	c.-39-6C>T	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140126110C>T	(Likely) benign	1 lab	f6b8dd439e
2:32288923 SPAST G>A	2	32288923	32288923	G	A	SPAST	c.23G>A	NM_014946.4	NP_055761.2:p.(Gly8Glu)	NC_000002.11:g.32288923G>A	VUS	1 lab	f6b9095196
X:30326328 NR0B1 C>A	X	30326328	30326328	C	A	NR0B1	c.1153G>T	NM_000475.5	NP_000466.2:p.(Val385Leu)	NC_000023.10:g.30326328C>A	(Likely) benign	1 lab	f6b9c4b1a0
2:10183876 KLF11 C>T	2	10183876	10183876	C	T	KLF11	c.33C>T	NM_003597.5	NP_003588.1:p.(Asp11=)	NC_000002.11:g.10183876C>T	(Likely) benign	1 lab	f6ba716fa5
3:9975039 IL17RC C>G	3	9975039	9975039	C	G	IL17RC	c.1925C>G	NM_153460.4	NP_703190.2:p.(Ala642Gly)	NC_000003.11:g.9975039C>G	VUS	1 lab	f6ba827b36
X:48375575 PORCN T>C	X	48375575	48375575	T	C	PORCN	c.1178T>C	NM_203475.3	NP_982301.1:p.(Leu393Pro)	NC_000023.10:g.48375575T>C	VUS	1 lab	f6babb1ef4
2:152432268 NEB T>C	2	152432268	152432268	T	C	NEB	c.16954A>G	NM_001164508.2	NP_001157980.2:p.(Ile5652Val)	NC_000002.11:g.152432268T>C	(Likely) benign	1 lab	f6bb5e0ac9
2:15427260 NBAS C>T	2	15427260	15427260	C	T	NBAS	c.5075G>A	NM_015909.4	NP_056993.2:p.(Arg1692His)	NC_000002.11:g.15427260C>T	VUS	1 lab	f6bd7b94d2
21:35230996 ITSN1 C>T	21	35230996	35230996	C	T	ITSN1	c.3790C>T	NM_003024.3	NP_003015.2:p.(Gln1264Ter)	NC_000021.8:g.35230996C>T	VUS	1 lab	f6bd81b9e8
18:51904603 C18orf54 C>A	18	51904603	51904603	C	A	C18orf54	c.1589C>A	NM_001288980.2	NP_001275909.1:p.(Ser530Ter)	NC_000018.9:g.51904603C>A	VUS	1 lab	f6bdbd29b3
1:68905293 RPE65 C>T	1	68905293	68905293	C	T	RPE65	c.676G>A	NM_000329.3	NP_000320.1:p.(Val226Ile)	NC_000001.10:g.68905293C>T	(Likely) benign	1 lab	f6bf03b4f1
19:54637428 MISSING C>T	19	54637428	54637428	C	T	MISSING				NC_000019.9:g.54637428C>T	(Likely) benign	1 lab	f6c08efcc8
6:33147560 COL11A2 C>T	6	33147560	33147560	C	T	COL11A2	c.1382G>A	NM_080680.3	NP_542411.2:p.(Gly461Asp)	NC_000006.11:g.33147560C>T	VUS	1 lab	f6c0e7bed2
7:48335308 ABCA13 G>T	7	48335308	48335308	G	T	ABCA13	c.8967G>T	NM_152701.5	NP_689914.3:p.(Lys2989Asn)	NC_000007.13:g.48335308G>T	VUS	1 lab	f6c1184ff2
14:105412741 AHNAK2 G>C	14	105412741	105412741	G	C	AHNAK2	c.9047C>G	NM_138420.4	NP_612429.2:p.(Ser3016Cys)	NC_000014.8:g.105412741G>C	VUS	1 lab	f6c12a24ef
19:15302895 NOTCH3 A>T	19	15302895	15302895	A	T	NOTCH3	c.555T>A	NM_000435.3	NP_000426.2:p.(Cys185Ter)	NC_000019.9:g.15302895A>T	VUS	1 lab	f6c2d63eea
6:33406601 SYNGAP1 C>T	6	33406601	33406601	C	T	SYNGAP1	c.1581C>T	NM_006772.3	NP_006763.2:p.(Asp527=)	NC_000006.11:g.33406601C>T	(Likely) benign	1 lab	3196551f3a
16:21170702 LDAF1 AGGCTG>A	16	21170702	21170710	AGGCTG	A	LDAF1	c.-99+639_-99+643del	NM_001301771.2	NP_001288700.1:p.?	NC_000016.9:g.21170706_21170710del	VUS	1 lab	f6c55e3f6b
12:113617007 DDX54 C>T	12	113617007	113617007	C	T	DDX54	c.505G>A	NM_024072.4	NP_076977.3:p.(Ala169Thr)	NC_000012.11:g.113617007C>T	VUS	1 lab	f6c69c625b
9:138594162 KCNT1 G>A	9	138594162	138594162	G	A	KCNT1	c.58G>A	NM_020822.3	NP_065873.2:p.(Gly20Arg)	NC_000009.11:g.138594162G>A	(Likely) benign	1 lab	f6c7175f32
10:127526882 DHX32 CAG>C	10	127526882	127526884	CAG	C	DHX32	c.1954_1955del	NM_018180.3	NP_060650.2:p.(Leu652ValfsTer17)	NC_000010.10:g.127526883_127526884del	VUS	1 lab	f6c73e66c3
6:35426175 FANCE C>T	6	35426175	35426175	C	T	FANCE	c.1071C>T	NM_021922.3	NP_068741.1:p.(Leu357=)	NC_000006.11:g.35426175C>T	(Likely) benign	1 lab	f6c7fda409
2:186656108 FSIP2 C>A	2	186656108	186656108	C	A	FSIP2	c.4245C>A	NM_173651.4	NP_775922.3:p.(His1415Gln)	NC_000002.11:g.186656108C>A	VUS	1 lab	f6ca6dfc54
11:73785564 C2CD3 G>C	11	73785564	73785564	G	C	C2CD3	c.4685C>G	NM_001286577.2	NP_001273506.1:p.(Ser1562Cys)	NC_000011.9:g.73785564G>C	(Likely) benign	1 lab	f6cb6909be
3:145828192 PLOD2 T>C	3	145828192	145828192	T	C	PLOD2	c.382A>G	NM_182943.3	NP_891988.1:p.(Lys128Glu)	NC_000003.11:g.145828192T>C	VUS	1 lab	f6cb7bf6e5
X:48758545 PQBP1 C>T	X	48758545	48758545	C	T	PQBP1	c.146C>T	NM_001032382.2	NP_001027554.1:p.(Pro49Leu)	NC_000023.10:g.48758545C>T	VUS	1 lab	f6cbfdd10c
8:11566159 GATA4 C>G	8	11566159	11566159	C	G	GATA4	c.338C>G	NM_001308093.3	NP_001295022.1:p.(Thr113Ser)	NC_000008.10:g.11566159C>G	(Likely) benign	1 lab	f6cd106cae
4:9909850 SLC2A9 T>G	4	9909850	9909850	T	G	SLC2A9	c.1026+9A>C	NM_001001290.2	NP_001001290.1:p.?	NC_000004.11:g.9909850T>G	(Likely) benign	1 lab	2ec54b4640
7:40134484 CDK13 A>C	7	40134484	40134484	A	C	CDK13	c.4444A>C	NM_003718.5	NP_003709.3:p.(Thr1482Pro)	NC_000007.13:g.40134484A>C	(Likely) benign	1 lab	f6ce08db08
11:64457919 NRXN2 C>T	11	64457919	64457919	C	T	NRXN2	c.808G>A	NM_015080.4	NP_055895.1:p.(Ala270Thr)	NC_000011.9:g.64457919C>T	VUS	1 lab	f6d1a7041e
10:47903205 MISSING G>A	10	47903205	47903205	G	A	MISSING				NC_000010.10:g.47903205G>A	VUS	1 lab	f6d22d7014
X:90691316 PABPC5 A>C	X	90691316	90691316	A	C	PABPC5	c.740A>C	NM_080832.3	NP_543022.1:p.(Glu247Ala)	NC_000023.10:g.90691316A>C	(Likely) benign	1 lab	f6d2aa7a5f
2:27685995 IFT172 T>C	2	27685995	27685995	T	C	IFT172	c.1991A>G	NM_015662.3	NP_056477.1:p.(Asn664Ser)	NC_000002.11:g.27685995T>C	(Likely) benign	1 lab	f6d2c9e2b2
1:2234481 SKI C>T	1	2234481	2234481	C	T	SKI	c.1034C>T	NM_003036.4	NP_003027.1:p.(Ala345Val)	NC_000001.10:g.2234481C>T	VUS	1 lab	f6d3e4886e
9:14307000 NFIB C>T	9	14307000	14307000	C	T	NFIB	c.550G>A	NM_001190737.2	NP_001177666.1:p.(Val184Met)	NC_000009.11:g.14307000C>T	VUS	1 lab	f6d42d5950
11:17434279 ABCC8 A>G	11	17434279	17434279	A	G	ABCC8	c.2490T>C	NM_000352.6	NP_000343.2:p.(Ser830=)	NC_000011.9:g.17434279A>G	(Likely) benign	1 lab	f6d470a1cf
21:33060747 SCAF4 T>C	21	33060747	33060747	T	C	SCAF4	c.1916A>G	NM_020706.2	NP_065757.1:p.(Asn639Ser)	NC_000021.8:g.33060747T>C	(Likely) benign	1 lab	f6d654a4c8
2:241810762 AGXT T>C	2	241810762	241810762	T	C	AGXT	c.424-4T>C	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241810762T>C	(Likely) benign	1 lab	319dff0807
12:103249093 PAH C>A	12	103249093	103249093	C	A	PAH	c.527G>T	NM_000277.3	NP_000268.1:p.(Arg176Leu)	NC_000012.11:g.103249093C>A	(Likely) pathogenic	1 lab	f6d74e00d7
3:10379886 ATP2B2 G>A	3	10379886	10379886	G	A	ATP2B2	c.3394C>T	NM_001001331.4	NP_001001331.1:p.(Arg1132Ter)	NC_000003.11:g.10379886G>A	VUS	1 lab	f6d7ac5655
11:61548273 MYRF T>C	11	61548273	61548273	T	C	MYRF	c.2486+9T>C	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61548273T>C	(Likely) benign	1 lab	f6d8bb3b8f
2:241710561 KIF1A C>T	2	241710561	241710561	C	T	KIF1A	c.1208-40G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241710561C>T	(Likely) benign	1 lab	f6d981e801
9:139396346 NOTCH1 A>G	9	139396346	139396346	A	G	NOTCH1	c.5492T>C	NM_017617.5	NP_060087.3:p.(Leu1831Pro)	NC_000009.11:g.139396346A>G	VUS	1 lab	f6db953752
21:35237511 ITSN1 G>C	21	35237511	35237511	G	C	ITSN1	c.3947G>C	NM_003024.3	NP_003015.2:p.(Gly1316Ala)	NC_000021.8:g.35237511G>C	VUS	1 lab	f6dbcd0519
X:48419200 TBC1D25 G>A	X	48419200	48419200	G	A	TBC1D25	c.1904G>A	NM_002536.4	NP_002527.1:p.(Arg635His)	NC_000023.10:g.48419200G>A	(Likely) benign	1 lab	f6dc48bf11
6:31630171 GPANK1 G>A	6	31630171	31630171	G	A	GPANK1	c.943C>T	NM_033177.4	NP_149417.1:p.(Arg315Ter)	NC_000006.11:g.31630171G>A	VUS	1 lab	f6dccb7c24
13:32913026 BRCA2 CG>C	13	32913026	32913027	CG	C	BRCA2	c.4535del	NM_000059.4	NP_000050.3:p.(Arg1512LeufsTer31)	NC_000013.10:g.32913027del	(Likely) pathogenic	1 lab	d9b77988d3
16:30734967 SRCAP C>G	16	30734967	30734967	C	G	SRCAP	c.4222C>G	NM_006662.3	NP_006653.2:p.(Pro1408Ala)	NC_000016.9:g.30734967C>G	VUS	1 lab	f6de1b556d
4:1369931 UVSSA C>T	4	1369931	1369931	C	T	UVSSA	c.1543C>T	NM_020894.4	NP_065945.2:p.(Leu515Phe)	NC_000004.11:g.1369931C>T	(Likely) benign	1 lab	f6e0efd735
12:129190691 TMEM132C A>T	12	129190691	129190691	A	T	TMEM132C	c.3178A>T	NM_001136103.3	NP_001129575.2:p.(Thr1060Ser)	NC_000012.11:g.129190691A>T	(Likely) benign	1 lab	f6e231eb90
8:145163451 WDR97 G>T	8	145163451	145163451	G	T	WDR97	c.482G>T	NM_001316309.2	NP_001303238.1:p.(Gly161Val)	NC_000008.10:g.145163451G>T	(Likely) benign	1 lab	f6e2997e51
15:79059156 ADAMTS7 C>T	15	79059156	79059156	C	T	ADAMTS7	c.3097G>A	NM_014272.5	NP_055087.2:p.(Ala1033Thr)	NC_000015.9:g.79059156C>T	(Likely) benign	1 lab	f6e2de9cb3
1:202719492 KDM5B C>T	1	202719492	202719492	C	T	KDM5B	c.1821+295G>A	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202719492C>T	(Likely) benign	1 lab	f6e6238096
2:170135978 LRP2 C>T	2	170135978	170135978	C	T	LRP2	c.1469G>A	NM_004525.3	NP_004516.2:p.(Arg490His)	NC_000002.11:g.170135978C>T	VUS	1 lab	f6e897646c
17:79849454 ALYREF C>G	17	79849454	79849454	C	G	ALYREF	c.3G>C	NM_005782.4	NP_005773.3:p.(Met1?)	NC_000017.10:g.79849454C>G	VUS	1 lab	f6ea85a97a
14:35872926 NFKBIA G>A	14	35872926	35872926	G	A	NFKBIA	c.306C>T	NM_020529.3	NP_065390.1:p.(Ala102=)	NC_000014.8:g.35872926G>A	(Likely) benign	1 lab	d9b77d9149
10:33217036 ITGB1 G>A	10	33217036	33217036	G	A	ITGB1	c.533C>T	NM_002211.4	NP_002202.2:p.(Ser178Leu)	NC_000010.10:g.33217036G>A	VUS	1 lab	f6ed376d88
5:60822222 ZSWIM6 A>C	5	60822222	60822222	A	C	ZSWIM6	c.1836A>C	NM_020928.2	NP_065979.1:p.(Lys612Asn)	NC_000005.9:g.60822222A>C	VUS	1 lab	f6ee34d21b
2:210685345 UNC80 G>C	2	210685345	210685345	G	C	UNC80	c.2273G>C	NM_001371986.1	NP_001358915.1:p.(Gly758Ala)	NC_000002.11:g.210685345G>C	VUS	1 lab	f6ef4b53e5
5:140250321 PCDHA1 A>G	5	140250321	140250321	A	G	PCDHA1	c.2394+82052A>G	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140250321A>G	VUS	1 lab	f6ef7d13d9
12:2719722 CACNA1C T>A	12	2719722	2719722	T	A	CACNA1C	c.3574T>A	NM_000719.7	NP_000710.5:p.(Tyr1192Asn)	NC_000012.11:g.2719722T>A	VUS	1 lab	f6f42a0423
6:32810001 PSMB8 C>T	6	32810001	32810001	C	T	PSMB8	c.447G>A	NM_148919.4	NP_683720.2:p.(Ser149=)	NC_000006.11:g.32810001C>T	(Likely) benign	1 lab	31a0690dc6
1:160100073 ATP1A2 G>A	1	160100073	160100073	G	A	ATP1A2	c.1643G>A	NM_000702.4	NP_000693.1:p.(Arg548His)	NC_000001.10:g.160100073G>A	(Likely) pathogenic	1 lab	f6f5767be1
16:23647140 PALB2 T>G	16	23647140	23647140	T	G	PALB2	c.727A>C	NM_024675.4	NP_078951.2:p.(Thr243Pro)	NC_000016.9:g.23647140T>G	VUS	1 lab	f6f6142931
X:151935596 MAGEA6 C>A	X	151935596	151935596	C	A	MAGEA6	c.571G>T	NM_005363.5	NP_005354.1:p.(Gly191Cys)	NC_000023.10:g.151935596C>A	(Likely) benign	1 lab	f6f673fc2f
19:54486059 CACNG8 G>A	19	54486059	54486059	G	A	CACNG8	c.1234G>A	NM_031895.6	NP_114101.4:p.(Ala412Thr)	NC_000019.9:g.54486059G>A	VUS	1 lab	f6f69f8f43
2:113300153 POLR1B C>T	2	113300153	113300153	C	T	POLR1B	c.82C>T	NM_019014.6	NP_061887.2:p.(Arg28Trp)	NC_000002.11:g.113300153C>T	VUS	1 lab	f6f76e266e
11:66461668 SPTBN2 C>A	11	66461668	66461668	C	A	SPTBN2	c.4445G>T	NM_006946.4	NP_008877.2:p.(Arg1482Leu)	NC_000011.9:g.66461668C>A	(Likely) benign	1 lab	f6f85ee6b2
14:75570707 NEK9 G>GA	14	75570707	75570714	G	GA	NEK9	c.1576-8dup	NM_033116.6	NP_149107.4:p.?	NC_000014.8:g.75570714dup	(Likely) benign	1 lab	f6f90c084a
13:26411310 ATP8A2 G>A	13	26411310	26411310	G	A	ATP8A2	c.2764G>A	NM_016529.6	NP_057613.4:p.(Ala922Thr)	NC_000013.10:g.26411310G>A	VUS	1 lab	f6fbdbd9bc
11:2906046 CDKN1C T>A	11	2906046	2906046	T	A	CDKN1C	c.641A>T	NM_001122630.2	NP_001116102.1:p.(Glu214Val)	NC_000011.9:g.2906046T>A	(Likely) benign	1 lab	f6fd04d9bc
17:79818215 P4HB G>A	17	79818215	79818215	G	A	P4HB	c.133C>T	NM_000918.4	NP_000909.2:p.(Leu45=)	NC_000017.10:g.79818215G>A	(Likely) benign	1 lab	f6ff98e611
19:1051005 ABCA7 C>T	19	1051005	1051005	C	T	ABCA7	c.2638C>T	NM_019112.4	NP_061985.2:p.(Arg880Trp)	NC_000019.9:g.1051005C>T	VUS	1 lab	f702da1838
16:1270800 CACNA1H C>G	16	1270800	1270800	C	G	CACNA1H	c.6868C>G	NM_021098.3	NP_066921.2:p.(Pro2290Ala)	NC_000016.9:g.1270800C>G	(Likely) benign	1 lab	f7033850d7
12:6604269 NCAPD2 C>G	12	6604269	6604269	C	G	NCAPD2	c.5C>G	NM_014865.4	NP_055680.3:p.(Ala2Gly)	NC_000012.11:g.6604269C>G	VUS	1 lab	f703ed2f77
10:64973769 JMJD1C T>C	10	64973769	64973769	T	C	JMJD1C	c.2158A>G	NM_032776.3	NP_116165.1:p.(Ile720Val)	NC_000010.10:g.64973769T>C	(Likely) benign	1 lab	f703fe8976
6:24447087 GPLD1 G>A	6	24447087	24447087	G	A	GPLD1	c.1799C>T	NM_001503.4	NP_001494.2:p.(Pro600Leu)	NC_000006.11:g.24447087G>A	VUS	1 lab	f706031e8c
3:49081829 QRICH1 G>A	3	49081829	49081829	G	A	QRICH1	c.1780C>T	NM_198880.3	NP_942581.1:p.(Pro594Ser)	NC_000003.11:g.49081829G>A	VUS	1 lab	f707322309
5:37170441 CPLANE1 A>G	5	37170441	37170441	A	G	CPLANE1	c.6172-8T>C	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37170441A>G	(Likely) benign	1 lab	f70961f511
7:98553896 TRRAP A>G	7	98553896	98553896	A	G	TRRAP	c.6065A>G	NM_001375524.1	NP_001362453.1:p.(Lys2022Arg)	NC_000007.13:g.98553896A>G	VUS	1 lab	f709de7f99
2:33585657 LTBP1 C>T	2	33585657	33585657	C	T	LTBP1	c.4001-7C>T	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33585657C>T	VUS	1 lab	f70ae8461b
11:113934651 ZBTB16 G>A	11	113934651	113934651	G	A	ZBTB16	c.629G>A	NM_006006.6	NP_005997.2:p.(Gly210Glu)	NC_000011.9:g.113934651G>A	VUS	1 lab	f70cee1356
14:50626778 SOS2 T>C	14	50626778	50626778	T	C	SOS2	c.1223A>G	NM_006939.4	NP_008870.2:p.(His408Arg)	NC_000014.8:g.50626778T>C	(Likely) benign	1 lab	f70fd9834a
6:143093777 HIVEP2 T>A	6	143093777	143093777	T	A	HIVEP2	c.2099A>T	NM_006734.4	NP_006725.3:p.(Glu700Val)	NC_000006.11:g.143093777T>A	VUS	1 lab	f713617579
16:2164392 PKD1 C>CCAGGG	16	2164392	2164405	C	CCAGGG	PKD1	c.2627_2631dup	NM_001009944.3	NP_001009944.3:p.(Val878ProfsTer22)	NC_000016.9:g.2164401_2164405dup	(Likely) pathogenic	1 lab	f7154db73b
5:140595295 PCDHB13 T>A	5	140595295	140595295	T	A	PCDHB13	c.1600T>A	NM_018933.4	NP_061756.1:p.(Ser534Thr)	NC_000005.9:g.140595295T>A	(Likely) benign	1 lab	f715be90be
12:88482985 CEP290 T>C	12	88482985	88482985	T	C	CEP290	c.3853A>G	NM_025114.4	NP_079390.3:p.(Lys1285Glu)	NC_000012.11:g.88482985T>C	VUS	1 lab	f715cabbcd
7:74212257 GTF2IRD2 TC>T	7	74212257	74212260	TC	T	GTF2IRD2	c.1593del	NM_173537.5	NP_775808.4:p.(Asn532ThrfsTer26)	NC_000007.13:g.74212260del	VUS	1 lab	f717c56397
5:153054180 GRIA1 G>C	5	153054180	153054180	G	C	GRIA1	c.820G>C	NM_000827.4	NP_000818.2:p.(Asp274His)	NC_000005.9:g.153054180G>C	VUS	1 lab	f7188ecc80
3:52438585 BAP1 C>T	3	52438585	52438585	C	T	BAP1	c.1134G>A	NM_004656.4	NP_004647.1:p.(Ala378=)	NC_000003.11:g.52438585C>T	(Likely) benign	1 lab	f7190c2afc
17:36104721 HNF1B C>G	17	36104721	36104721	C	G	HNF1B	c.155G>C	NM_000458.4	NP_000449.1:p.(Ser52Thr)	NC_000017.10:g.36104721C>G	VUS	1 lab	d9b860ccd9
8:70550982 SULF1 G>A	8	70550982	70550982	G	A	SULF1	c.2440G>A	NM_001128205.2	NP_001121677.1:p.(Val814Met)	NC_000008.10:g.70550982G>A	VUS	1 lab	f71b7d35c9
7:107569537 LAMB1 A>G	7	107569537	107569537	A	G	LAMB1	c.4859T>C	NM_002291.3	NP_002282.2:p.(Ile1620Thr)	NC_000007.13:g.107569537A>G	VUS	1 lab	f71b917604
11:19955322 NAV2 C>T	11	19955322	19955322	C	T	NAV2	c.1532C>T	NM_145117.5	NP_660093.2:p.(Thr511Met)	NC_000011.9:g.19955322C>T	(Likely) benign	1 lab	f71bd4469d
20:52782375 CYP24A1 G>A	20	52782375	52782375	G	A	CYP24A1	c.641-3C>T	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52782375G>A	(Likely) benign	1 lab	f71c769238
1:101479263 DPH5 T>C	1	101479263	101479263	T	C	DPH5	c.369+3A>G	NM_015958.3	NP_057042.2:p.?	NC_000001.10:g.101479263T>C	VUS	1 lab	f71db6a7f8
16:1412064 GNPTG A>T	16	1412064	1412064	A	T	GNPTG	c.343A>T	NM_032520.5	NP_115909.1:p.(Asn115Tyr)	NC_000016.9:g.1412064A>T	VUS	1 lab	f72125ecaa
22:41553263 EP300 G>A	22	41553263	41553263	G	A	EP300	c.3352G>A	NM_001429.4	NP_001420.2:p.(Val1118Ile)	NC_000022.10:g.41553263G>A	(Likely) benign	1 lab	f723b63bdd
11:73020965 ARHGEF17 C>A	11	73020965	73020965	C	A	ARHGEF17	c.1282C>A	NM_014786.4	NP_055601.2:p.(Leu428Met)	NC_000011.9:g.73020965C>A	(Likely) benign	1 lab	f724b66916
5:78076305 ARSB T>C	5	78076305	78076305	T	C	ARSB	c.1517A>G	NM_000046.5	NP_000037.2:p.(His506Arg)	NC_000005.9:g.78076305T>C	VUS	1 lab	f725c76039
17:78327957 RNF213 G>A	17	78327957	78327957	G	A	RNF213	c.10717G>A	NM_001256071.3	NP_001243000.2:p.(Ala3573Thr)	NC_000017.10:g.78327957G>A	(Likely) benign	1 lab	f72671f31d
4:15552553 CC2D2A A>C	4	15552553	15552553	A	C	CC2D2A	c.2288A>C	NM_001378615.1	NP_001365544.1:p.(Glu763Ala)	NC_000004.11:g.15552553A>C	VUS	1 lab	f726b883a2
19:45853763 ERCC2 TCCCCCTAGGTGC>T	19	45853763	45853779	TCCCCCTAGGTGC	T	ERCC2	c.*1112_*1123del	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45853768_45853779del	VUS	1 lab	f727306e4e
5:134366994 PITX1 C>A	5	134366994	134366994	C	A	PITX1	c.374G>T	NM_002653.5	NP_002644.4:p.(Trp125Leu)	NC_000005.9:g.134366994C>A	VUS	1 lab	f727e0a6b9
14:50088469 MGAT2 T>G	14	50088469	50088469	T	G	MGAT2	c.483T>G	NM_002408.4	NP_002399.1:p.(Asn161Lys)	NC_000014.8:g.50088469T>G	VUS	1 lab	f72875d2e2
3:10353533 SEC13 C>T	3	10353533	10353533	C	T	SEC13	c.450+116G>A	NM_183352.3	NP_899195.1:p.?	NC_000003.11:g.10353533C>T	VUS	1 lab	f7289f90af
X:49454026 PAGE1 T>C	X	49454026	49454026	T	C	PAGE1	c.413A>G	NM_003785.4	NP_003776.2:p.(Glu138Gly)	NC_000023.10:g.49454026T>C	(Likely) benign	1 lab	f72a143ed5
4:88986631 PKD2 C>T	4	88986631	88986631	C	T	PKD2	c.2224C>T	NM_000297.4	NP_000288.1:p.(Arg742Ter)	NC_000004.11:g.88986631C>T	(Likely) pathogenic	1 lab	f72a684552
2:46842119 PIGF A>G	2	46842119	46842119	A	G	PIGF	c.185T>C	NM_002643.4	NP_002634.1:p.(Val62Ala)	NC_000002.11:g.46842119A>G	(Likely) benign	1 lab	f72bc6106b
14:59003729 KIAA0586 G>T	14	59003729	59003729	G	T	KIAA0586	c.4430-3060G>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003729G>T	(Likely) benign	1 lab	f72c0af0b0
5:86627202 RASA1 G>A	5	86627202	86627202	G	A	RASA1	c.577G>A	NM_002890.3	NP_002881.1:p.(Glu193Lys)	NC_000005.9:g.86627202G>A	VUS	1 lab	f72e452a79
1:60377870 CYP2J2 C>G	1	60377870	60377870	C	G	CYP2J2	c.487G>C	NM_000775.4	NP_000766.2:p.(Ala163Pro)	NC_000001.10:g.60377870C>G	VUS	1 lab	f72ee39185
19:49469598 FTL G>T	19	49469598	49469598	G	T	FTL	c.310G>T	NM_000146.4	NP_000137.2:p.(Glu104Ter)	NC_000019.9:g.49469598G>T	(Likely) pathogenic	1 lab	f730b2518d
12:66232284 HMGA2 C>A	12	66232284	66232284	C	A	HMGA2	c.199-15C>A	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66232284C>A	VUS	1 lab	f7317e31c2
14:57711016 EXOC5 C>G	14	57711016	57711016	C	G	EXOC5	c.332G>C	NM_006544.4	NP_006535.1:p.(Cys111Ser)	NC_000014.8:g.57711016C>G	VUS	1 lab	f7328cd2e1
3:139069133 MRPS22 C>T	3	139069133	139069133	C	T	MRPS22	c.617C>T	NM_020191.4	NP_064576.1:p.(Thr206Ile)	NC_000003.11:g.139069133C>T	(Likely) benign	1 lab	f7330d2e80
19:49120041 RPL18 G>A	19	49120041	49120041	G	A	RPL18	c.239C>T	NM_000979.4	NP_000970.1:p.(Ala80Val)	NC_000019.9:g.49120041G>A	(Likely) benign	1 lab	f7344f6a8f
8:119122620 EXT1 ACTGATGCTGGCTTTGGC>A	8	119122620	119122638	ACTGATGCTGGCTTTGGC	A	EXT1	c.649_665del	NM_000127.3	NP_000118.2:p.(Ala217TyrfsTer2)	NC_000008.10:g.119122622_119122638del	(Likely) pathogenic	1 lab	d9bc5c4689
1:22202738 HSPG2 C>T	1	22202738	22202738	C	T	HSPG2	c.2987G>A	NM_005529.7	NP_005520.4:p.(Arg996His)	NC_000001.10:g.22202738C>T	VUS	1 lab	f734d15b2f
14:69360359 ACTN1 C>CA	14	69360359	69360360	C	CA	ACTN1	c.855+12_855+13insT	NM_001130004.2	NP_001123476.1:p.?	NC_000014.8:g.69360359_69360360insA	(Likely) benign	1 lab	f7376c96d3
17:73500672 CASKIN2 A>C	17	73500672	73500672	A	C	CASKIN2	c.1295T>G	NM_020753.5	NP_065804.2:p.(Leu432Arg)	NC_000017.10:g.73500672A>C	VUS	1 lab	f7379fd6c3
1:184680891 EDEM3 C>T	1	184680891	184680891	C	T	EDEM3	c.1657G>A	NM_025191.4	NP_079467.3:p.(Val553Met)	NC_000001.10:g.184680891C>T	VUS	1 lab	f7384033ea
9:138684066 KCNT1 G>T	9	138684066	138684066	G	T	KCNT1	c.*59G>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138684066G>T	(Likely) benign	1 lab	31a78cd152
3:170856117 TNIK T>A	3	170856117	170856117	T	A	TNIK	c.1471A>T	NM_015028.4	NP_055843.1:p.(Arg491Trp)	NC_000003.11:g.170856117T>A	VUS	1 lab	f739032f9b
2:152567012 NEB T>C	2	152567012	152567012	T	C	NEB	c.863A>G	NM_001164508.2	NP_001157980.2:p.(Lys288Arg)	NC_000002.11:g.152567012T>C	(Likely) benign	1 lab	f73abfd4fa
8:110510782 PKHD1L1 G>C	8	110510782	110510782	G	C	PKHD1L1	c.10691G>C	NM_177531.6	NP_803875.2:p.(Arg3564Pro)	NC_000008.10:g.110510782G>C	VUS	1 lab	f73af47a64
16:20439161 ACSM5 C>T	16	20439161	20439161	C	T	ACSM5	c.973C>T	NM_017888.3	NP_060358.2:p.(Arg325Trp)	NC_000016.9:g.20439161C>T	VUS	1 lab	f73c294c70
1:7724336 CAMTA1 C>T	1	7724336	7724336	C	T	CAMTA1	c.1729C>T	NM_015215.4	NP_056030.1:p.(Pro577Ser)	NC_000001.10:g.7724336C>T	VUS	1 lab	f73d620d0f
19:16986941 SIN3B G>A	19	16986941	16986941	G	A	SIN3B	c.2668G>A	NM_001297595.2	NP_001284524.1:p.(Ala890Thr)	NC_000019.9:g.16986941G>A	(Likely) benign	1 lab	f73e7b1d17
X:129203377 ELF4 G>A	X	129203377	129203377	G	A	ELF4	c.1085C>T	NM_001421.4	NP_001412.1:p.(Ala362Val)	NC_000023.10:g.129203377G>A	VUS	1 lab	f73ea1f4f0
11:2466653 KCNQ1 C>T	11	2466653	2466653	C	T	KCNQ1	c.325C>T	NM_000218.3	NP_000209.2:p.(Arg109Cys)	NC_000011.9:g.2466653C>T	VUS	1 lab	f73ef46281
14:102457919 DYNC1H1 T>C	14	102457919	102457919	T	C	DYNC1H1	c.2924T>C	NM_001376.5	NP_001367.2:p.(Ile975Thr)	NC_000014.8:g.102457919T>C	(Likely) benign	1 lab	f740caed6d
21:34924576 SON C>T	21	34924576	34924576	C	T	SON	c.3039C>T	NM_138927.2	NP_620305.2:p.(Tyr1013=)	NC_000021.8:g.34924576C>T	(Likely) benign	1 lab	31a7bbd29b
5:176562474 NSD1 C>G	5	176562474	176562474	C	G	NSD1	c.370C>G	NM_022455.5	NP_071900.2:p.(Leu124Val)	NC_000005.9:g.176562474C>G	VUS	1 lab	f743db6dcd
2:179473414 TTN G>C	2	179473414	179473414	G	C	TTN	c.52324C>G	NM_001267550.2	NP_001254479.2:p.(Leu17442Val)	NC_000002.11:g.179473414G>C	VUS	1 lab	f744e3cedd
19:36211346 KMT2B A>G	19	36211346	36211346	A	G	KMT2B	c.1097A>G	NM_014727.3	NP_055542.1:p.(Glu366Gly)	NC_000019.9:g.36211346A>G	(Likely) benign	1 lab	f745177a23
15:58902684 ADAM10 C>T	15	58902684	58902684	C	T	ADAM10	c.1837G>A	NM_001110.4	NP_001101.1:p.(Val613Met)	NC_000015.9:g.58902684C>T	VUS	1 lab	353f9012fd
7:4821280 AP5Z1 C>T	7	4821280	4821280	C	T	AP5Z1	c.261C>T	NM_014855.3	NP_055670.1:p.(Ala87=)	NC_000007.13:g.4821280C>T	(Likely) benign	1 lab	f74896f7f4
16:70502756 FCSK CTG>C	16	70502756	70502758	CTG	C	FCSK	c.669_670del	NM_145059.3	NP_659496.2:p.(Val225CysfsTer42)	NC_000016.9:g.70502757_70502758del	(Likely) pathogenic	1 lab	f748e9d9e3
14:74972886 LTBP2 C>T	14	74972886	74972886	C	T	LTBP2	c.4042G>A	NM_000428.3	NP_000419.1:p.(Glu1348Lys)	NC_000014.8:g.74972886C>T	VUS	1 lab	f7499a51ce
7:44192980 GCK C>T	7	44192980	44192980	C	T	GCK	c.128G>A	NM_000162.5	NP_000153.1:p.(Arg43His)	NC_000007.13:g.44192980C>T	(Likely) pathogenic	1 lab	f74b30c8ee
17:79193727 CEP131 G>A	17	79193727	79193727	G	A	CEP131	c.130C>T	NM_014984.4	NP_055799.2:p.(Arg44Cys)	NC_000017.10:g.79193727G>A	VUS	1 lab	f74c9ed081
16:89346723 ANKRD11 G>A	16	89346723	89346723	G	A	ANKRD11	c.6227C>T	NM_013275.6	NP_037407.4:p.(Pro2076Leu)	NC_000016.9:g.89346723G>A	(Likely) benign	1 lab	f74d8120d3
12:14849174 GUCY2C T>G	12	14849174	14849174	T	G	GUCY2C	c.209A>C	NM_004963.4	NP_004954.2:p.(Gln70Pro)	NC_000012.11:g.14849174T>G	(Likely) benign	1 lab	f74e132f3b
17:36099441 HNF1B C>T	17	36099441	36099441	C	T	HNF1B	c.534G>A	NM_000458.4	NP_000449.1:p.(Glu178=)	NC_000017.10:g.36099441C>T	(Likely) benign	1 lab	f75005523b
13:31860966 B3GLCT C>T	13	31860966	31860966	C	T	B3GLCT	c.1064+10C>T	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31860966C>T	(Likely) benign	1 lab	f761282da7
X:30236744 MAGEB2 G>T	X	30236744	30236744	G	T	MAGEB2	c.47G>T	NM_002364.5	NP_002355.2:p.(Arg16Leu)	NC_000023.10:g.30236744G>T	VUS	1 lab	f750e51fa9
11:2186518 TH C>T	11	2186518	2186518	C	T	TH	c.1278G>A	NM_000360.4	NP_000351.2:p.(Thr426=)	NC_000011.9:g.2186518C>T	(Likely) benign	1 lab	f75195c8c3
17:45367132 ITGB3 A>G	17	45367132	45367132	A	G	ITGB3	c.1025A>G	NM_000212.3	NP_000203.2:p.(Asn342Ser)	NC_000017.10:g.45367132A>G	VUS	1 lab	f75217127f
16:11000937 CIITA G>A	16	11000937	11000937	G	A	CIITA	c.1588G>A	NM_000246.4	NP_000237.2:p.(Ala530Thr)	NC_000016.9:g.11000937G>A	VUS	1 lab	f754a6a373
17:4836005 GP1BA A>G	17	4836005	4836005	A	G	GP1BA	c.106A>G	NM_000173.7	NP_000164.5:p.(Arg36Gly)	NC_000017.10:g.4836005A>G	(Likely) benign	1 lab	f756a41ac7
17:40371822 STAT5B G>A	17	40371822	40371822	G	A	STAT5B	c.589C>T	NM_012448.4	NP_036580.2:p.(Arg197Cys)	NC_000017.10:g.40371822G>A	VUS	1 lab	f75a103022
2:219499342 ZNF142 C>T	2	219499342	219499342	C	T	ZNF142	c.*3720G>A	NM_001379659.1	NP_001366588.1:p.?	NC_000002.11:g.219499342C>T	VUS	1 lab	f75d07089d
5:14397227 TRIO C>T	5	14397227	14397227	C	T	TRIO	c.4387C>T	NM_007118.4	NP_009049.2:p.(Arg1463Ter)	NC_000005.9:g.14397227C>T	(Likely) pathogenic	1 lab	f75ea37343
4:91229455 CCSER1 G>A	4	91229455	91229455	G	A	CCSER1	c.20G>A	NM_001145065.2	NP_001138537.1:p.(Arg7Lys)	NC_000004.11:g.91229455G>A	VUS	1 lab	f75ec813ff
22:46931384 CELSR1 CGTT>C	22	46931384	46931389	CGTT	C	CELSR1	c.1681_1683del	NM_001378328.1	NP_001365257.1:p.(Asn561del)	NC_000022.10:g.46931387_46931389del	VUS	1 lab	f75fd77d28
16:89805967 FANCA A>G	16	89805967	89805967	A	G	FANCA	c.3935-6T>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805967A>G	(Likely) benign	1 lab	f76007b42c
14:105243104 AKT1 C>T	14	105243104	105243104	C	T	AKT1	c.179G>A	NM_001382430.1	NP_001369359.1:p.(Cys60Tyr)	NC_000014.8:g.105243104C>T	VUS	1 lab	f7607096f1
19:11097014 SMARCA4 C>T	19	11097014	11097014	C	T	SMARCA4	c.505C>T	NM_003072.5	NP_003063.2:p.(Pro169Ser)	NC_000019.9:g.11097014C>T	(Likely) benign	1 lab	f760729167
5:37125474 CPLANE1 C>G	5	37125474	37125474	C	G	CPLANE1	c.8830G>C	NM_001384732.1	NP_001371661.1:p.(Asp2944His)	NC_000005.9:g.37125474C>G	VUS	1 lab	f760dc4704
18:10759858 PIEZO2 T>C	18	10759858	10759858	T	C	PIEZO2	c.3500A>G	NM_001378183.1	NP_001365112.1:p.(Tyr1167Cys)	NC_000018.9:g.10759858T>C	VUS	1 lab	f7618d31e9
3:81586172 GBE1 G>A	3	81586172	81586172	G	A	GBE1	c.1693C>T	NM_000158.4	NP_000149.4:p.(Arg565Trp)	NC_000003.11:g.81586172G>A	VUS	1 lab	f76264f533
1:225273309 DNAH14 GA>G	1	225273309	225273315	GA	G	DNAH14	c.3397del	NM_001367479.1	NP_001354408.1:p.(Met1133CysfsTer16)	NC_000001.10:g.225273315del	VUS	1 lab	f765183b52
14:102900806 TECPR2 A>G	14	102900806	102900806	A	G	TECPR2	c.1652A>G	NM_014844.5	NP_055659.2:p.(Glu551Gly)	NC_000014.8:g.102900806A>G	(Likely) benign	1 lab	f7671df031
1:12023684 PLOD1 A>C	1	12023684	12023684	A	C	PLOD1	c.1193A>C	NM_000302.4	NP_000293.2:p.(Gln398Pro)	NC_000001.10:g.12023684A>C	(Likely) benign	1 lab	f767e44533
3:56667841 TASOR A>G	3	56667841	56667841	A	G	TASOR	c.2978T>C	NM_001365635.2	NP_001352564.1:p.(Val993Ala)	NC_000003.11:g.56667841A>G	(Likely) benign	1 lab	f768c3df2a
17:42937397 EFTUD2 G>C	17	42937397	42937397	G	C	EFTUD2	c.1736C>G	NM_004247.4	NP_004238.3:p.(Pro579Arg)	NC_000017.10:g.42937397G>C	VUS	1 lab	f76a30b47f
10:89473068 PAPSS2 G>GGAAAA	10	89473068	89473069	G	GGAAAA	PAPSS2	c.381+1_381+2insGAAAA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068_89473069insGAAAA	VUS	1 lab	f76b07e588
8:20054928 ATP6V1B2 G>A	8	20054928	20054928	G	A	ATP6V1B2	c.11G>A	NM_001693.4	NP_001684.2:p.(Arg4Gln)	NC_000008.10:g.20054928G>A	(Likely) benign	1 lab	f76bf77027
5:153030051 GRIA1 C>T	5	153030051	153030051	C	T	GRIA1	c.622C>T	NM_000827.4	NP_000818.2:p.(Arg208Cys)	NC_000005.9:g.153030051C>T	VUS	1 lab	f76c811d0e
X:84502546 ZNF711 T>G	X	84502546	84502546	T	G	ZNF711	c.-26-7T>G	NM_001330574.2	NP_001317503.1:p.?	NC_000023.10:g.84502546T>G	VUS	1 lab	f76cd3289b
15:66777465 MAP2K1 C>G	15	66777465	66777465	C	G	MAP2K1	c.831C>G	NM_002755.4	NP_002746.1:p.(Cys277Trp)	NC_000015.9:g.66777465C>G	VUS	1 lab	f76d586ddf
6:143106268 HIVEP2 C>T	6	143106268	143106268	C	T	HIVEP2	c.-527-1516G>A	NM_006734.4	NP_006725.3:p.?	NC_000006.11:g.143106268C>T	(Likely) benign	1 lab	f76f573398
X:34148841 FAM47A A>G	X	34148841	34148841	A	G	FAM47A	c.1555T>C	NM_203408.4	NP_981953.2:p.(Ser519Pro)	NC_000023.10:g.34148841A>G	VUS	1 lab	f76f7f09ff
16:2158958 PKD1 G>A	16	2158958	2158958	G	A	PKD1	c.6210C>T	NM_001009944.3	NP_001009944.3:p.(Pro2070=)	NC_000016.9:g.2158958G>A	(Likely) benign	1 lab	f76ffcdfcf
16:2168703 PKD1 C>G	16	2168703	2168703	C	G	PKD1	c.503G>C	NM_001009944.3	NP_001009944.3:p.(Gly168Ala)	NC_000016.9:g.2168703C>G	(Likely) benign	1 lab	f7711fbe53
16:30735546 SRCAP T>C	16	30735546	30735546	T	C	SRCAP	c.4801T>C	NM_006662.3	NP_006653.2:p.(Ser1601Pro)	NC_000016.9:g.30735546T>C	VUS	1 lab	f771319473
8:97270861 MTERF3 G>A	8	97270861	97270861	G	A	MTERF3	c.58C>T	NM_015942.5	NP_057026.3:p.(Leu20Phe)	NC_000008.10:g.97270861G>A	(Likely) benign	1 lab	f77341bca2
21:35154316 ITSN1 T>G	21	35154316	35154316	T	G	ITSN1	c.1703T>G	NM_003024.3	NP_003015.2:p.(Leu568Arg)	NC_000021.8:g.35154316T>G	VUS	1 lab	f773d491cf
5:13708284 DNAH5 C>T	5	13708284	13708284	C	T	DNAH5	c.13286G>A	NM_001369.3	NP_001360.1:p.(Arg4429Gln)	NC_000005.9:g.13708284C>T	(Likely) benign	1 lab	f77428df0a
9:35792649 NPR2 C>A	9	35792649	35792649	C	A	NPR2	c.244C>A	NM_003995.4	NP_003986.2:p.(Leu82Met)	NC_000009.11:g.35792649C>A	VUS	1 lab	f774cf9c34
11:103339392 DYNC2H1 G>A	11	103339392	103339392	G	A	DYNC2H1	c.12724G>A	NM_001377.3	NP_001368.2:p.(Val4242Met)	NC_000011.9:g.103339392G>A	VUS	1 lab	f77bbce348
10:87614258 GRID1 G>A	10	87614258	87614258	G	A	GRID1	c.1228C>T	NM_017551.3	NP_060021.1:p.(Arg410Cys)	NC_000010.10:g.87614258G>A	(Likely) benign	1 lab	f77d33da20
12:132547093 EP400 A>ACAGCAGCAGCAGCAG	12	132547093	132547137	A	ACAGCAGCAGCAGCAG	EP400	c.8211_8225dup	NM_015409.5	NP_056224.3:p.(Gln2744_Gln2748dup)	NC_000012.11:g.132547123_132547137dup	VUS	1 lab	f77f66d542
14:94125610 UNC79 A>G	14	94125610	94125610	A	G	UNC79	c.6858+3A>G	NM_001395159.1	NP_001382088.1:p.?	NC_000014.8:g.94125610A>G	VUS	1 lab	f780ceac78
15:99492204 IGF1R T>C	15	99492204	99492204	T	C	IGF1R	c.3722+267T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99492204T>C	(Likely) benign	1 lab	f781141787
X:9665478 TBL1X T>G	X	9665478	9665478	T	G	TBL1X	c.1114+9T>G	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9665478T>G	(Likely) benign	1 lab	f783694abf
22:19481894 CDC45 G>A	22	19481894	19481894	G	A	CDC45	c.531G>A	NM_003504.5	NP_003495.1:p.(Trp177Ter)	NC_000022.10:g.19481894G>A	(Likely) pathogenic	1 lab	f78bb131f4
6:33140340 COL11A2 T>A	6	33140340	33140340	T	A	COL11A2	c.2865A>T	NM_080680.3	NP_542411.2:p.(Gly955=)	NC_000006.11:g.33140340T>A	(Likely) benign	1 lab	f78c085e45
15:99465364 IGF1R C>A	15	99465364	99465364	C	A	IGF1R	c.2202-13C>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99465364C>A	(Likely) benign	1 lab	f78c7939d9
11:118344988 KMT2A G>A	11	118344988	118344988	G	A	KMT2A	c.3114G>A	NM_001197104.2	NP_001184033.1:p.(Glu1038=)	NC_000011.9:g.118344988G>A	(Likely) benign	1 lab	f78c94c55c
15:85467214 SLC28A1 A>G	15	85467214	85467214	A	G	SLC28A1	c.958-2A>G	NM_004213.5	NP_004204.3:p.?	NC_000015.9:g.85467214A>G	VUS	1 lab	f78d9152f8
6:21595910 SOX4 C>T	6	21595910	21595910	C	T	SOX4	c.1145C>T	NM_003107.3	NP_003098.1:p.(Ala382Val)	NC_000006.11:g.21595910C>T	(Likely) benign	1 lab	f78e258cfe
4:3076603 HTT C>CCAGCAGCAGCAGCAGCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAGCAGCAGCAGCAGCAG	HTT	c.87_110dup	NM_001388492.1	NP_001375421.1:p.(Gln31_Gln38dup)	NC_000004.11:g.3076639_3076662dup	VUS	1 lab	f78ee79eac
8:100833562 VPS13B C>G	8	100833562	100833562	C	G	VPS13B	c.9035C>G	NM_152564.5	NP_689777.3:p.(Thr3012Ser)	NC_000008.10:g.100833562C>G	VUS	1 lab	f78f3bc9d4
2:189869099 COL3A1 A>T	2	189869099	189869099	A	T	COL3A1	c.2931+9A>T	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189869099A>T	(Likely) benign	1 lab	31ac9813cb
3:168833463 MECOM G>A	3	168833463	168833463	G	A	MECOM	c.2197C>T	NM_004991.4	NP_004982.2:p.(Leu733=)	NC_000003.11:g.168833463G>A	(Likely) benign	1 lab	f7901d8bd1
19:13423476 CACNA1A C>T	19	13423476	13423476	C	T	CACNA1A	c.1668+7G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13423476C>T	(Likely) benign	1 lab	f790310557
15:99251266 IGF1R G>T	15	99251266	99251266	G	T	IGF1R	c.570G>T	NM_000875.5	NP_000866.1:p.(Pro190=)	NC_000015.9:g.99251266G>T	(Likely) benign	1 lab	f7904fc214
7:2578482 BRAT1 G>A	7	2578482	2578482	G	A	BRAT1	c.1771-84C>T	NM_152743.4	NP_689956.2:p.?	NC_000007.13:g.2578482G>A	VUS	1 lab	f792014366
3:81754616 GBE1 C>G	3	81754616	81754616	C	G	GBE1	c.292G>C	NM_000158.4	NP_000149.4:p.(Val98Leu)	NC_000003.11:g.81754616C>G	VUS	1 lab	f79201d6b7
3:4725245 ITPR1 G>T	3	4725245	4725245	G	T	ITPR1	c.3327+10G>T	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4725245G>T	(Likely) benign	1 lab	f7936a1590
16:19451961 TMC5 T>C	16	19451961	19451961	T	C	TMC5	c.601T>C	NM_001261841.2	NP_001248770.1:p.(Ser201Pro)	NC_000016.9:g.19451961T>C	(Likely) benign	1 lab	f7944caa94
11:64506853 RASGRP2 G>A	11	64506853	64506853	G	A	RASGRP2	c.792C>T	NM_153819.1	NP_722541.1:p.(His264=)	NC_000011.9:g.64506853G>A	(Likely) benign	1 lab	31ae8d0d27
1:23240244 EPHB2 G>A	1	23240244	23240244	G	A	EPHB2	c.*181G>A	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23240244G>A	(Likely) benign	1 lab	f796689638
22:41918971 ACO2 A>G	22	41918971	41918971	A	G	ACO2	c.1276A>G	NM_001098.3	NP_001089.1:p.(Thr426Ala)	NC_000022.10:g.41918971A>G	VUS	1 lab	f7971d2186
6:32007370 CYP21A2 A>T	6	32007370	32007370	A	T	CYP21A2	c.597A>T	NM_000500.9	NP_000491.4:p.(Leu199Phe)	NC_000006.11:g.32007370A>T	VUS	1 lab	f7978df9da
4:114232546 ANK2 G>T	4	114232546	114232546	G	T	ANK2	c.2684G>T	NM_001148.6	NP_001139.3:p.(Arg895Leu)	NC_000004.11:g.114232546G>T	VUS	1 lab	f7985c76ea
14:99969957 CCNK C>T	14	99969957	99969957	C	T	CCNK	c.1021C>T	NM_001099402.2	NP_001092872.1:p.(Pro341Ser)	NC_000014.8:g.99969957C>T	(Likely) benign	1 lab	f799b22792
6:117248258 RFX6 C>T	6	117248258	117248258	C	T	RFX6	c.1954C>T	NM_173560.4	NP_775831.2:p.(Arg652Ter)	NC_000006.11:g.117248258C>T	VUS	1 lab	f79afe51b5
5:122426284 PRDM6 C>G	5	122426284	122426284	C	G	PRDM6	c.575C>G	NM_001136239.4	NP_001129711.1:p.(Thr192Ser)	NC_000005.9:g.122426284C>G	(Likely) benign	1 lab	f79cada555
1:44466968 SLC6A9 G>A	1	44466968	44466968	G	A	SLC6A9	c.1203C>T	NM_001024845.3	NP_001020016.1:p.(Phe401=)	NC_000001.10:g.44466968G>A	(Likely) benign	1 lab	f79d41be9f
22:19208911 CLTCL1 C>A	22	19208911	19208911	C	A	CLTCL1	c.2785G>T	NM_007098.4	NP_009029.3:p.(Glu929Ter)	NC_000022.10:g.19208911C>A	VUS	1 lab	f79ef20797
9:94493389 ROR2 C>T	9	94493389	94493389	C	T	ROR2	c.986G>A	NM_004560.4	NP_004551.2:p.(Ser329Asn)	NC_000009.11:g.94493389C>T	(Likely) benign	1 lab	f7a09ed867
17:42284700 UBTF C>CTCG	17	42284700	42284711	C	CTCG	UBTF	c.2202_2204dup	NM_014233.4	NP_055048.1:p.(Asp734dup)	NC_000017.10:g.42284709_42284711dup	VUS	1 lab	f7a211b48a
X:153588203 FLNA G>A	X	153588203	153588203	G	A	FLNA	c.3876C>T	NM_001110556.2	NP_001104026.1:p.(His1292=)	NC_000023.10:g.153588203G>A	(Likely) benign	1 lab	f7a266b50f
1:214813734 CENPF G>A	1	214813734	214813734	G	A	CENPF	c.2053G>A	NM_016343.4	NP_057427.3:p.(Val685Met)	NC_000001.10:g.214813734G>A	(Likely) benign	1 lab	f7a44522bf
7:117175303 CFTR G>T	7	117175303	117175303	G	T	CFTR	c.581G>T	NM_000492.4	NP_000483.3:p.(Gly194Val)	NC_000007.13:g.117175303G>T	(Likely) pathogenic	1 lab	2ecb2d7cf1
7:42004878 GLI3 G>A	7	42004878	42004878	G	A	GLI3	c.3793C>T	NM_000168.6	NP_000159.3:p.(Pro1265Ser)	NC_000007.13:g.42004878G>A	(Likely) benign	1 lab	f7a4f3c53e
18:67817325 RTTN T>C	18	67817325	67817325	T	C	RTTN	c.2056-2A>G	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67817325T>C	(Likely) pathogenic	1 lab	f7a6558bd4
4:1801635 FGFR3 G>A	4	1801635	1801635	G	A	FGFR3	c.445+96G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1801635G>A	(Likely) benign	1 lab	f7a8e16a5d
12:111855959 SH2B3 C>G	12	111855959	111855959	C	G	SH2B3	c.10C>G	NM_005475.3	NP_005466.1:p.(Pro4Ala)	NC_000012.11:g.111855959C>G	VUS	1 lab	f7a9172ae9
9:34485236 DNAI1 G>A	9	34485236	34485236	G	A	DNAI1	c.178G>A	NM_012144.4	NP_036276.1:p.(Ala60Thr)	NC_000009.11:g.34485236G>A	VUS	1 lab	f7a92d242b
6:74191971 MTO1 A>T	6	74191971	74191971	A	T	MTO1	c.1465+4A>T	NM_012123.4	NP_036255.2:p.?	NC_000006.11:g.74191971A>T	VUS	1 lab	f7a94099d4
13:113795343 F10 G>A	13	113795343	113795343	G	A	F10	c.481G>A	NM_000504.4	NP_000495.1:p.(Gly161Ser)	NC_000013.10:g.113795343G>A	VUS	1 lab	2ecc76d280
2:121745978 GLI2 T>C	2	121745978	121745978	T	C	GLI2	c.2437T>C	NM_001374353.1	NP_001361282.1:p.(Phe813Leu)	NC_000002.11:g.121745978T>C	(Likely) benign	1 lab	f7a9e1a44d
9:131397194 DYNC2I2 G>A	9	131397194	131397194	G	A	DYNC2I2	c.988C>T	NM_052844.4	NP_443076.2:p.(Arg330Cys)	NC_000009.11:g.131397194G>A	VUS	1 lab	f7ab54e51a
14:64468786 SYNE2 A>G	14	64468786	64468786	A	G	SYNE2	c.3773A>G	NM_182914.2	NP_878918.2:p.(Tyr1258Cys)	NC_000014.8:g.64468786A>G	(Likely) benign	1 lab	31afae96e5
1:180155276 QSOX1 C>T	1	180155276	180155276	C	T	QSOX1	c.976C>T	NM_002826.5	NP_002817.2:p.(Arg326Cys)	NC_000001.10:g.180155276C>T	(Likely) benign	1 lab	f7ac6dc3b0
21:27269881 APP G>A	21	27269881	27269881	G	A	APP	c.2064+4C>T	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27269881G>A	(Likely) benign	1 lab	f7c3208519
7:124517894 POT1 CAAAAAAAAAAAAAAAA>C	7	124517894	124517923	CAAAAAAAAAAAAAAAA	C	POT1	c.125-6815_125-6800del	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124517908_124517923del	(Likely) benign	1 lab	f7ad0e20f0
17:79176142 CEP131 A>G	17	79176142	79176142	A	G	CEP131	c.686T>C	NM_014984.4	NP_055799.2:p.(Leu229Pro)	NC_000017.10:g.79176142A>G	(Likely) benign	1 lab	f7adb16716
16:78466599 WWOX T>G	16	78466599	78466599	T	G	WWOX	c.1006T>G	NM_016373.4	NP_057457.1:p.(Trp336Gly)	NC_000016.9:g.78466599T>G	VUS	1 lab	f7ae4774b2
X:48117185 SSX1 T>G	X	48117185	48117185	T	G	SSX1	c.74T>G	NM_005635.4	NP_005626.1:p.(Phe25Cys)	NC_000023.10:g.48117185T>G	VUS	1 lab	f7b137b399
6:87925425 ZNF292 C>A	6	87925425	87925425	C	A	ZNF292	c.169-196C>A	NM_015021.3	NP_055836.1:p.?	NC_000006.11:g.87925425C>A	(Likely) benign	1 lab	f7b24bbc53
X:73524146 ZCCHC13 G>A	X	73524146	73524146	G	A	ZCCHC13	c.45G>A	NM_203303.3	NP_976048.1:p.(Trp15Ter)	NC_000023.10:g.73524146G>A	(Likely) benign	1 lab	f7b31a873d
9:131115331 SLC27A4 C>T	9	131115331	131115331	C	T	SLC27A4	c.1015C>T	NM_005094.4	NP_005085.2:p.(Arg339Cys)	NC_000009.11:g.131115331C>T	VUS	1 lab	f7b5233806
20:47886696 ZNFX1 C>A	20	47886696	47886696	C	A	ZNFX1	c.1653G>T	NM_021035.3	NP_066363.1:p.(Met551Ile)	NC_000020.10:g.47886696C>A	VUS	1 lab	f7b65238c6
X:21666942 CNKSR2 G>T	X	21666942	21666942	G	T	CNKSR2	c.2693-7G>T	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21666942G>T	(Likely) benign	1 lab	f7b987efeb
3:186959260 MASP1 G>T	3	186959260	186959260	G	T	MASP1	c.1303+9C>A	NM_139125.4	NP_624302.1:p.?	NC_000003.11:g.186959260G>T	(Likely) benign	1 lab	f7b9bc88fd
22:46724665 GTSE1 C>T	22	46724665	46724665	C	T	GTSE1	c.1805C>T	NM_016426.7	NP_057510.5:p.(Ser602Phe)	NC_000022.10:g.46724665C>T	(Likely) benign	1 lab	f7ba19eed5
14:33014724 AKAP6 G>A	14	33014724	33014724	G	A	AKAP6	c.865G>A	NM_004274.5	NP_004265.3:p.(Ala289Thr)	NC_000014.8:g.33014724G>A	VUS	1 lab	f7ba1bd2a7
15:89398112 ACAN G>A	15	89398112	89398112	G	A	ACAN	c.2296G>A	NM_001369268.1	NP_001356197.1:p.(Ala766Thr)	NC_000015.9:g.89398112G>A	(Likely) benign	1 lab	f7ba7c995c
22:32239609 DEPDC5 G>A	22	32239609	32239609	G	A	DEPDC5	c.2634-22G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32239609G>A	(Likely) benign	1 lab	31b18217bb
12:56536821 ESYT1 G>A	12	56536821	56536821	G	A	ESYT1	c.3008G>A	NM_015292.3	NP_056107.1:p.(Arg1003His)	NC_000012.11:g.56536821G>A	VUS	1 lab	f7c0578f07
6:45514903 RUNX2 C>T	6	45514903	45514903	C	T	RUNX2	c.1427C>T	NM_001024630.4	NP_001019801.3:p.(Thr476Ile)	NC_000006.11:g.45514903C>T	VUS	1 lab	f7c0a42075
22:51159652 SHANK3 G>T	22	51159652	51159652	G	T	SHANK3	c.3616G>T	NM_001372044.2	NP_001358973.1:p.(Val1206Leu)	NC_000022.10:g.51159652G>T	(Likely) pathogenic	1 lab	f7c48434a4
15:33925234 RYR3 T>G	15	33925234	33925234	T	G	RYR3	c.2952T>G	NM_001036.6	NP_001027.3:p.(Asp984Glu)	NC_000015.9:g.33925234T>G	VUS	1 lab	f7c65a5722
14:105615166 JAG2 G>A	14	105615166	105615166	G	A	JAG2	c.1936C>T	NM_002226.5	NP_002217.3:p.(Arg646Cys)	NC_000014.8:g.105615166G>A	VUS	1 lab	f7c68ae985
22:42557363 TCF20 A>G	22	42557363	42557363	A	G	TCF20	c.*46T>C	NM_001378418.1	NP_001365347.1:p.?	NC_000022.10:g.42557363A>G	VUS	1 lab	f7cabc3e18
15:91423943 FURIN G>C	15	91423943	91423943	G	C	FURIN	c.1579G>C	NM_002569.4	NP_002560.1:p.(Gly527Arg)	NC_000015.9:g.91423943G>C	VUS	1 lab	f7cbca6012
5:180036959 FLT4 C>A	5	180036959	180036959	C	A	FLT4	c.3753G>T	NM_182925.5	NP_891555.2:p.(Arg1251Ser)	NC_000005.9:g.180036959C>A	(Likely) benign	1 lab	f7ccc9b5fd
11:126143336 FOXRED1 G>A	11	126143336	126143336	G	A	FOXRED1	c.523G>A	NM_017547.4	NP_060017.1:p.(Val175Met)	NC_000011.9:g.126143336G>A	VUS	1 lab	f7ce3b5f3e
10:81056358 ZMIZ1 C>T	10	81056358	81056358	C	T	ZMIZ1	c.1361C>T	NM_020338.4	NP_065071.1:p.(Pro454Leu)	NC_000010.10:g.81056358C>T	(Likely) benign	1 lab	f7ce6f61cf
4:77661479 SHROOM3 G>A	4	77661479	77661479	G	A	SHROOM3	c.2153G>A	NM_020859.4	NP_065910.3:p.(Arg718Gln)	NC_000004.11:g.77661479G>A	(Likely) benign	1 lab	f7ce89b7b4
11:13391179 BMAL1 A>G	11	13391179	13391179	A	G	BMAL1	c.685A>G	NM_001297719.2	NP_001284648.1:p.(Lys229Glu)	NC_000011.9:g.13391179A>G	VUS	1 lab	f7d05b5439
11:125853866 CDON A>G	11	125853866	125853866	A	G	CDON	c.2896T>C	NM_001378964.1	NP_001365893.1:p.(Tyr966His)	NC_000011.9:g.125853866A>G	VUS	1 lab	f7d70152f6
9:98211580 PTCH1 C>A	9	98211580	98211580	C	A	PTCH1	c.3575G>T	NM_000264.5	NP_000255.2:p.(Arg1192Leu)	NC_000009.11:g.98211580C>A	VUS	1 lab	f7d82e1859
17:78032711 CCDC40 G>A	17	78032711	78032711	G	A	CCDC40	c.1372G>A	NM_017950.4	NP_060420.2:p.(Ala458Thr)	NC_000017.10:g.78032711G>A	(Likely) benign	1 lab	f7d97b92ed
16:88799767 PIEZO1 C>A	16	88799767	88799767	C	A	PIEZO1	c.2583G>T	NM_001142864.4	NP_001136336.2:p.(Trp861Cys)	NC_000016.9:g.88799767C>A	VUS	1 lab	f7db1d92c0
17:78087132 GAA C>A	17	78087132	78087132	C	A	GAA	c.2156C>A	NM_000152.5	NP_000143.2:p.(Ala719Glu)	NC_000017.10:g.78087132C>A	VUS	1 lab	f7f1d79712
10:89473069 PAPSS2 T>TAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAA	PAPSS2	c.381+14_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473081_89473091dup	(Likely) benign	1 lab	f7dd035a86
16:70538512 COG4 TAA>T	16	70538512	70538531	TAA	T	COG4	c.1062-3520_1062-3519del	NM_015386.3	NP_056201.2:p.?	NC_000016.9:g.70538530_70538531del	(Likely) benign	1 lab	f7e149dd88
2:26414465 HADHA A>G	2	26414465	26414465	A	G	HADHA	c.2033T>C	NM_000182.5	NP_000173.2:p.(Val678Ala)	NC_000002.11:g.26414465A>G	VUS	1 lab	f7e49fc42c
8:116616655 TRPS1 C>A	8	116616655	116616655	C	A	TRPS1	c.1541G>T	NM_014112.5	NP_054831.2:p.(Ser514Ile)	NC_000008.10:g.116616655C>A	(Likely) benign	1 lab	f7e54b0028
17:30320292 SUZ12 A>C	17	30320292	30320292	A	C	SUZ12	c.1233A>C	NM_015355.4	NP_056170.2:p.(Gln411His)	NC_000017.10:g.30320292A>C	(Likely) benign	1 lab	f7e89ec6db
20:60886272 LAMA5 C>A	20	60886272	60886272	C	A	LAMA5	c.10034G>T	NM_005560.6	NP_005551.3:p.(Gly3345Val)	NC_000020.10:g.60886272C>A	VUS	1 lab	f7e8d7820c
1:8420325 RERE G>A	1	8420325	8420325	G	A	RERE	c.3242C>T	NM_001042681.2	NP_001036146.1:p.(Ala1081Val)	NC_000001.10:g.8420325G>A	(Likely) benign	1 lab	f7ea16349b
17:80858524 TBCD C>T	17	80858524	80858524	C	T	TBCD	c.1650-3C>T	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80858524C>T	(Likely) benign	1 lab	f7ea72f712
11:103049866 DYNC2H1 T>A	11	103049866	103049866	T	A	DYNC2H1	c.6251T>A	NM_001377.3	NP_001368.2:p.(Ile2084Asn)	NC_000011.9:g.103049866T>A	VUS	1 lab	f7eaba5b4c
1:150054895 VPS45 A>G	1	150054895	150054895	A	G	VPS45	c.1032A>G	NM_007259.5	NP_009190.2:p.(Glu344=)	NC_000001.10:g.150054895A>G	(Likely) benign	1 lab	f7ebc0d8a4
X:129264121 AIFM1 T>C	X	129264121	129264121	T	C	AIFM1	c.1594A>G	NM_004208.4	NP_004199.1:p.(Ser532Gly)	NC_000023.10:g.129264121T>C	(Likely) benign	1 lab	f7ed52b04c
8:65493627 BHLHE22 G>A	8	65493627	65493627	G	A	BHLHE22	c.280G>A	NM_152414.5	NP_689627.1:p.(Gly94Ser)	NC_000008.10:g.65493627G>A	(Likely) benign	1 lab	f7edff5b60
17:40652819 ATP6V0A1 T>C	17	40652819	40652819	T	C	ATP6V0A1	c.1774T>C	NM_001130021.3	NP_001123493.1:p.(Tyr592His)	NC_000017.10:g.40652819T>C	VUS	1 lab	f7ef1ffdce
1:235600663 TBCE G>T	1	235600663	235600663	G	T	TBCE	c.990G>T	NM_003193.5	NP_003184.1:p.(Lys330Asn)	NC_000001.10:g.235600663G>T	(Likely) benign	1 lab	f7f13df698
3:38892215 SCN11A T>C	3	38892215	38892215	T	C	SCN11A	c.4084A>G	NM_001349253.2	NP_001336182.1:p.(Ile1362Val)	NC_000003.11:g.38892215T>C	(Likely) benign	1 lab	f7f157e32f
11:70331465 SHANK2 C>T	11	70331465	70331465	C	T	SHANK2	c.4933G>A	NM_012309.5	NP_036441.2:p.(Gly1645Arg)	NC_000011.9:g.70331465C>T	(Likely) benign	1 lab	f7f5a26221
X:47836755 ZNF182 C>A	X	47836755	47836755	C	A	ZNF182	c.674G>T	NM_001007088.2	NP_001007089.1:p.(Ser225Ile)	NC_000023.10:g.47836755C>A	(Likely) benign	1 lab	f7f5ba7896
3:135969375 PCCB G>A	3	135969375	135969375	G	A	PCCB	c.158G>A	NM_000532.5	NP_000523.2:p.(Arg53His)	NC_000003.11:g.135969375G>A	VUS	1 lab	f7f603aa31
14:23874868 MYH6 G>T	14	23874868	23874868	G	T	MYH6	c.313C>A	NM_002471.4	NP_002462.2:p.(Leu105Ile)	NC_000014.8:g.23874868G>T	VUS	1 lab	f7f8fb4ed4
13:28611382 FLT3 T>G	13	28611382	28611382	T	G	FLT3	c.1249A>C	NM_004119.3	NP_004110.2:p.(Ile417Leu)	NC_000013.10:g.28611382T>G	(Likely) benign	1 lab	f80f10c7a8
1:225268283 DNAH14 CTGACATTGAAGG>C	1	225268283	225268299	CTGACATTGAAGG	C	DNAH14	c.2974_2985del	NM_001367479.1	NP_001354408.1:p.(Ile992_Asp995del)	NC_000001.10:g.225268288_225268299del	VUS	1 lab	f7fa29042b
17:44950010 WNT9B C>T	17	44950010	44950010	C	T	WNT9B	c.205C>T	NM_003396.3	NP_003387.1:p.(Arg69Trp)	NC_000017.10:g.44950010C>T	VUS	1 lab	f7faec2810
16:69352717 VPS4A C>T	16	69352717	69352717	C	T	VPS4A	c.344-9C>T	NM_013245.3	NP_037377.1:p.?	NC_000016.9:g.69352717C>T	(Likely) benign	1 lab	f7fd8356cf
20:33501589 ACSS2 C>T	20	33501589	33501589	C	T	ACSS2	c.604C>T	NM_018677.4	NP_061147.1:p.(Arg202Trp)	NC_000020.10:g.33501589C>T	(Likely) benign	1 lab	f7fdbc66f4
2:99175920 INPP4A G>T	2	99175920	99175920	G	T	INPP4A	c.1823-6G>T	NM_001134225.2	NP_001127697.1:p.?	NC_000002.11:g.99175920G>T	VUS	1 lab	f7fe36775b
17:40475157 STAT3 T>G	17	40475157	40475157	T	G	STAT3	c.1753A>C	NM_139276.3	NP_644805.1:p.(Ile585Leu)	NC_000017.10:g.40475157T>G	VUS	1 lab	f800c54bb0
5:149755368 TCOF1 G>A	5	149755368	149755368	G	A	TCOF1	c.1789G>A	NM_001371623.1	NP_001358552.1:p.(Val597Ile)	NC_000005.9:g.149755368G>A	VUS	1 lab	f801432051
8:1998978 MYOM2 C>A	8	1998978	1998978	C	A	MYOM2	c.98C>A	NM_003970.4	NP_003961.3:p.(Ala33Glu)	NC_000008.10:g.1998978C>A	(Likely) benign	1 lab	31ba0ae62f
15:89392749 ACAN C>T	15	89392749	89392749	C	T	ACAN	c.1813C>T	NM_001369268.1	NP_001356197.1:p.(Leu605=)	NC_000015.9:g.89392749C>T	(Likely) benign	1 lab	f801bed2b5
4:120107098 MYOZ2 GT>G	4	120107098	120107108	GT	G	MYOZ2	c.561-13del	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120107108del	(Likely) benign	1 lab	2ece8dbe44
2:238262019 COL6A3 C>T	2	238262019	238262019	C	T	COL6A3	c.6655G>A	NM_004369.4	NP_004360.2:p.(Gly2219Ser)	NC_000002.11:g.238262019C>T	VUS	1 lab	f8044d97ba
2:220083031 ABCB6 A>G	2	220083031	220083031	A	G	ABCB6	c.365T>C	NM_005689.4	NP_005680.1:p.(Leu122Pro)	NC_000002.11:g.220083031A>G	VUS	1 lab	f8048505cb
5:13850780 DNAH5 A>T	5	13850780	13850780	A	T	DNAH5	c.5095T>A	NM_001369.3	NP_001360.1:p.(Cys1699Ser)	NC_000005.9:g.13850780A>T	VUS	1 lab	f807b50357
7:98560049 TRRAP C>G	7	98560049	98560049	C	G	TRRAP	c.6828C>G	NM_001375524.1	NP_001362453.1:p.(Phe2276Leu)	NC_000007.13:g.98560049C>G	(Likely) benign	1 lab	f80ad25c0c
17:40359718 STAT5B A>G	17	40359718	40359718	A	G	STAT5B	c.1935T>C	NM_012448.4	NP_036580.2:p.(Pro645=)	NC_000017.10:g.40359718A>G	(Likely) benign	1 lab	f80cc0bf23
3:186917764 RTP1 G>T	3	186917764	186917764	G	T	RTP1	c.698G>T	NM_153708.3	NP_714919.2:p.(Gly233Val)	NC_000003.11:g.186917764G>T	VUS	1 lab	f80ebada2c
4:82013616 PRKG2 G>T	4	82013616	82013616	G	T	PRKG2	c.2127-10C>A	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82013616G>T	(Likely) benign	1 lab	f810ecdab0
19:5679648 MICOS13 C>T	19	5679648	5679648	C	T	MICOS13	c.156G>A	NM_205767.3	NP_991330.1:p.(Met52Ile)	NC_000019.9:g.5679648C>T	VUS	1 lab	f81147dc13
15:49097812 CEP152 A>G	15	49097812	49097812	A	G	CEP152	c.35T>C	NM_001194998.2	NP_001181927.1:p.(Val12Ala)	NC_000015.9:g.49097812A>G	(Likely) benign	1 lab	f81420d58a
14:24001946 ZFHX2 C>T	14	24001946	24001946	C	T	ZFHX2	c.2389G>A	NM_033400.3	NP_207646.2:p.(Gly797Arg)	NC_000014.8:g.24001946C>T	VUS	1 lab	f814c0144a
11:71150074 DHCR7 G>A	11	71150074	71150074	G	A	DHCR7	c.682C>T	NM_001360.3	NP_001351.2:p.(Arg228Trp)	NC_000011.9:g.71150074G>A	(Likely) pathogenic	1 lab	f8161a9f2e
16:15932105 MYH11 G>A	16	15932105	15932105	G	A	MYH11	c.5C>T	NM_002474.3	NP_002465.1:p.(Ala2Val)	NC_000016.9:g.15932105G>A	VUS	1 lab	f816696706
18:31324732 ASXL3 G>A	18	31324732	31324732	G	A	ASXL3	c.4920G>A	NM_030632.3	NP_085135.1:p.(Lys1640=)	NC_000018.9:g.31324732G>A	(Likely) benign	1 lab	f816c010a0
15:101605746 LRRK1 G>A	15	101605746	101605746	G	A	LRRK1	c.5104G>A	NM_024652.6	NP_078928.3:p.(Gly1702Ser)	NC_000015.9:g.101605746G>A	(Likely) benign	1 lab	f817a56fb6
1:11824523 C1orf167 G>A	1	11824523	11824523	G	A	C1orf167	c.66G>A	NM_001010881.2	NP_001010881.1:p.(Lys22=)	NC_000001.10:g.11824523G>A	(Likely) benign	1 lab	f8188cce54
10:76735291 KAT6B T>C	10	76735291	76735291	T	C	KAT6B	c.1196T>C	NM_012330.4	NP_036462.2:p.(Leu399Ser)	NC_000010.10:g.76735291T>C	VUS	1 lab	f818afa19a
22:50315382 CRELD2 C>G	22	50315382	50315382	C	G	CRELD2	c.565C>G	NM_024324.5	NP_077300.3:p.(Arg189Gly)	NC_000022.10:g.50315382C>G	(Likely) benign	1 lab	f818e3ac7f
6:31636396 CSNK2B C>T	6	31636396	31636396	C	T	CSNK2B	c.256C>T	NM_001320.7	NP_001311.3:p.(Arg86Cys)	NC_000006.11:g.31636396C>T	(Likely) pathogenic	1 lab	f8192a4b80
1:173721015 KLHL20 C>A	1	173721015	173721015	C	A	KLHL20	c.710C>A	NM_014458.4	NP_055273.2:p.(Ala237Asp)	NC_000001.10:g.173721015C>A	VUS	1 lab	f81b16aeb8
20:40827927 PTPRT C>A	20	40827927	40827927	C	A	PTPRT	c.2444G>T	NM_007050.6	NP_008981.4:p.(Arg815Leu)	NC_000020.10:g.40827927C>A	VUS	1 lab	f81b31d25a
1:230925937 CAPN9 T>G	1	230925937	230925937	T	G	CAPN9	c.1657+2T>G	NM_006615.3	NP_006606.1:p.?	NC_000001.10:g.230925937T>G	VUS	1 lab	f81b8e837a
16:30749600 SRCAP C>G	16	30749600	30749600	C	G	SRCAP	c.8239C>G	NM_006662.3	NP_006653.2:p.(Leu2747Val)	NC_000016.9:g.30749600C>G	VUS	1 lab	f81c24c24a
5:92920731 NR2F1 T>C	5	92920731	92920731	T	C	NR2F1	c.2T>C	NM_005654.6	NP_005645.1:p.(Met1?)	NC_000005.9:g.92920731T>C	(Likely) pathogenic	1 lab	f81c59e256
16:70515773 COG4 A>G	16	70515773	70515773	A	G	COG4	c.2005-5T>C	NM_015386.3	NP_056201.2:p.?	NC_000016.9:g.70515773A>G	(Likely) benign	1 lab	f81cc76d4c
2:220285075 DES C>T	2	220285075	220285075	C	T	DES	c.735+7C>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285075C>T	(Likely) benign	1 lab	f81d47e71b
20:2843978 VPS16 C>T	20	2843978	2843978	C	T	VPS16	c.1410C>T	NM_022575.4	NP_072097.2:p.(Cys470=)	NC_000020.10:g.2843978C>T	(Likely) benign	1 lab	f81db5e15e
1:210857131 KCNH1 C>T	1	210857131	210857131	C	T	KCNH1	c.2462G>A	NM_172362.3	NP_758872.1:p.(Cys821Tyr)	NC_000001.10:g.210857131C>T	VUS	1 lab	f81e6e6845
X:74288912 ABCB7 T>C	X	74288912	74288912	T	C	ABCB7	c.1589A>G	NM_001271696.3	NP_001258625.1:p.(Tyr530Cys)	NC_000023.10:g.74288912T>C	VUS	1 lab	f81eec4721
11:17124233 PIK3C2A G>C	11	17124233	17124233	G	C	PIK3C2A	c.3827C>G	NM_002645.4	NP_002636.2:p.(Ala1276Gly)	NC_000011.9:g.17124233G>C	VUS	1 lab	f81f807abc
12:121177244 ACADS G>A	12	121177244	121177244	G	A	ACADS	c.1232G>A	NM_000017.4	NP_000008.1:p.(Arg411Gln)	NC_000012.11:g.121177244G>A	VUS	1 lab	f820b13d75
12:108931939 SART3 T>C	12	108931939	108931939	T	C	SART3	c.1103A>G	NM_014706.4	NP_055521.1:p.(His368Arg)	NC_000012.11:g.108931939T>C	VUS	1 lab	f822385879
17:44249033 KANSL1 C>A	17	44249033	44249033	C	A	KANSL1	c.477G>T	NM_015443.4	NP_056258.1:p.(Lys159Asn)	NC_000017.10:g.44249033C>A	(Likely) benign	1 lab	f8224ee74c
7:780980 DNAAF5 T>G	7	780980	780980	T	G	DNAAF5	c.906-4T>G	NM_017802.4	NP_060272.3:p.?	NC_000007.13:g.780980T>G	(Likely) benign	1 lab	2ed38015b6
18:10789283 PIEZO2 T>C	18	10789283	10789283	T	C	PIEZO2	c.1963A>G	NM_001378183.1	NP_001365112.1:p.(Arg655Gly)	NC_000018.9:g.10789283T>C	(Likely) benign	1 lab	f82335cb88
9:139403313 NOTCH1 C>T	9	139403313	139403313	C	T	NOTCH1	c.3171+9G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139403313C>T	(Likely) benign	1 lab	f823c4aedc
4:128864988 MFSD8 G>C	4	128864988	128864988	G	C	MFSD8	c.358C>G	NM_001371596.2	NP_001358525.1:p.(Leu120Val)	NC_000004.11:g.128864988G>C	VUS	1 lab	f827c4e26f
11:36597061 RAG1 C>T	11	36597061	36597061	C	T	RAG1	c.2207C>T	NM_000448.3	NP_000439.2:p.(Thr736Ile)	NC_000011.9:g.36597061C>T	VUS	1 lab	f8284dc1a6
2:179474151 TTN G>A	2	179474151	179474151	G	A	TTN	c.51886C>T	NM_001267550.2	NP_001254479.2:p.(Arg17296Cys)	NC_000002.11:g.179474151G>A	VUS	1 lab	f828540df5
15:34118884 RYR3 C>T	15	34118884	34118884	C	T	RYR3	c.11176C>T	NM_001036.6	NP_001027.3:p.(Leu3726Phe)	NC_000015.9:g.34118884C>T	VUS	1 lab	f8299dcae6
11:66192105 NPAS4 G>A	11	66192105	66192105	G	A	NPAS4	c.1744G>A	NM_178864.4	NP_849195.2:p.(Gly582Ser)	NC_000011.9:g.66192105G>A	VUS	1 lab	f82a2f3d86
7:44192899 GCK C>T	7	44192899	44192899	C	T	GCK	c.208+1G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44192899C>T	(Likely) pathogenic	1 lab	f82ac0359c
10:127462934 MMP21 G>A	10	127462934	127462934	G	A	MMP21	c.163C>T	NM_147191.1	NP_671724.1:p.(Arg55Trp)	NC_000010.10:g.127462934G>A	(Likely) benign	1 lab	f82d392f09
1:14099574 PRDM2 G>A	1	14099574	14099574	G	A	PRDM2	c.513G>A	NM_001393986.1	NP_001380915.1:p.(Gly171=)	NC_000001.10:g.14099574G>A	(Likely) benign	1 lab	f82d6e2385
X:73812603 RLIM A>C	X	73812603	73812603	A	C	RLIM	c.547T>G	NM_016120.4	NP_057204.2:p.(Ser183Ala)	NC_000023.10:g.73812603A>C	VUS	1 lab	f82dd6f99e
2:25505564 DNMT3A G>A	2	25505564	25505564	G	A	DNMT3A	c.194C>T	NM_022552.5	NP_072046.2:p.(Thr65Met)	NC_000002.11:g.25505564G>A	(Likely) benign	1 lab	f82dda56e3
14:51196323 NIN C>T	14	51196323	51196323	C	T	NIN	c.5996G>A	NM_020921.4	NP_065972.4:p.(Arg1999His)	NC_000014.8:g.51196323C>T	(Likely) benign	1 lab	f82e85981d
19:56170609 U2AF2 G>A	19	56170609	56170609	G	A	U2AF2	c.83G>A	NM_007279.3	NP_009210.1:p.(Ser28Asn)	NC_000019.9:g.56170609G>A	VUS	1 lab	f82fce42ac
19:20807291 ZNF626 G>C	19	20807291	20807291	G	C	ZNF626	c.1392C>G	NM_001076675.3	NP_001070143.1:p.(Cys464Trp)	NC_000019.9:g.20807291G>C	VUS	1 lab	f830a06367
12:6442997 TNFRSF1A C>T	12	6442997	6442997	C	T	TNFRSF1A	c.228G>A	NM_001065.3	NP_001056.1:p.(Gly76=)	NC_000012.11:g.6442997C>T	(Likely) benign	1 lab	31c3a99885
15:52442108 GNB5 G>C	15	52442108	52442108	G	C	GNB5	c.390C>G	NM_016194.4	NP_057278.2:p.(Ile130Met)	NC_000015.9:g.52442108G>C	VUS	1 lab	f832e7d343
4:178360811 AGA G>T	4	178360811	178360811	G	T	AGA	c.313C>A	NM_000027.4	NP_000018.2:p.(Leu105Ile)	NC_000004.11:g.178360811G>T	(Likely) benign	1 lab	f8346b49db
1:16258756 SPEN T>A	1	16258756	16258756	T	A	SPEN	c.6021T>A	NM_015001.3	NP_055816.2:p.(Asp2007Glu)	NC_000001.10:g.16258756T>A	(Likely) benign	1 lab	f834ee6fca
19:47152755 DACT3 C>A	19	47152755	47152755	C	A	DACT3	c.874G>T	NM_145056.3	NP_659493.2:p.(Ala292Ser)	NC_000019.9:g.47152755C>A	(Likely) benign	1 lab	f83528cbf3
10:88827918 GLUD1 C>T	10	88827918	88827918	C	T	GLUD1	c.647-4G>A	NM_005271.5	NP_005262.1:p.?	NC_000010.10:g.88827918C>T	(Likely) benign	1 lab	f8357021ce
19:40739817 AKT2 A>C	19	40739817	40739817	A	C	AKT2	c.1408T>G	NM_001626.6	NP_001617.1:p.(Phe470Val)	NC_000019.9:g.40739817A>C	VUS	1 lab	f8371ff645
11:44640252 CD82 C>T	11	44640252	44640252	C	T	CD82	c.705C>T	NM_002231.4	NP_002222.1:p.(Gly235=)	NC_000011.9:g.44640252C>T	(Likely) benign	1 lab	f8392aa8b7
18:55365100 ATP8B1 C>T	18	55365100	55365100	C	T	ATP8B1	c.555-1G>A	NM_001374385.1	NP_001361314.1:p.?	NC_000018.9:g.55365100C>T	VUS	1 lab	f83b15d73c
8:42275422 SLC20A2 G>A	8	42275422	42275422	G	A	SLC20A2	c.1858C>T	NM_001257180.2	NP_001244109.1:p.(Arg620Trp)	NC_000008.10:g.42275422G>A	VUS	1 lab	f83fc961a3
3:108076719 HHLA2 C>G	3	108076719	108076719	C	G	HHLA2	c.714C>G	NM_001282556.2	NP_001269485.1:p.(His238Gln)	NC_000003.11:g.108076719C>G	VUS	1 lab	f8403d17bd
16:1392793 BAIAP3 G>A	16	1392793	1392793	G	A	BAIAP3	c.1139G>A	NM_001199097.2	NP_001186026.1:p.(Arg380Gln)	NC_000016.9:g.1392793G>A	VUS	1 lab	f840dcf0b6
14:21853853 CHD8 A>G	14	21853853	21853853	A	G	CHD8	c.7665T>C	NM_001170629.2	NP_001164100.1:p.(Asp2555=)	NC_000014.8:g.21853853A>G	(Likely) benign	1 lab	f84194a85d
9:131394888 SPTAN1 CAGG>C	9	131394888	131394893	CAGG	C	SPTAN1	c.7054_7056del	NM_001130438.3	NP_001123910.1:p.(Glu2352del)	NC_000009.11:g.131394891_131394893del	VUS	1 lab	f841af7ac9
19:10265575 DNMT1 T>C	19	10265575	10265575	T	C	DNMT1	c.1644+6A>G	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10265575T>C	(Likely) benign	1 lab	f843160b79
16:68265895 ESRP2 G>T	16	68265895	68265895	G	T	ESRP2	c.1109C>A	NM_024939.3	NP_079215.2:p.(Pro370Gln)	NC_000016.9:g.68265895G>T	VUS	1 lab	f843d64fc0
17:60483981 EFCAB3 G>A	17	60483981	60483981	G	A	EFCAB3	c.629G>A	NM_173503.4	NP_775774.1:p.(Arg210Gln)	NC_000017.10:g.60483981G>A	VUS	1 lab	f844771c99
4:119666217 SEC24D T>A	4	119666217	119666217	T	A	SEC24D	c.1708-2A>T	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119666217T>A	(Likely) benign	1 lab	f846accb2f
5:42719275 GHR A>T	5	42719275	42719275	A	T	GHR	c.1666A>T	NM_000163.5	NP_000154.1:p.(Ile556Leu)	NC_000005.9:g.42719275A>T	(Likely) benign	1 lab	f847eaeda3
11:68174007 LRP5 C>T	11	68174007	68174007	C	T	LRP5	c.1817C>T	NM_002335.4	NP_002326.2:p.(Ala606Val)	NC_000011.9:g.68174007C>T	VUS	1 lab	f84a5edfe1
8:144875258 SCRIB G>C	8	144875258	144875258	G	C	SCRIB	c.3910-5C>G	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144875258G>C	VUS	1 lab	f84a8087bb
17:34893056 PIGW A>G	17	34893056	34893056	A	G	PIGW	c.106A>G	NM_001346754.2	NP_001333683.1:p.(Arg36Gly)	NC_000017.10:g.34893056A>G	VUS	1 lab	f84e54570d
2:202498027 TMEM237 T>C	2	202498027	202498027	T	C	TMEM237	c.371+7A>G	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202498027T>C	(Likely) benign	1 lab	31ce4a3229
1:205128669 DSTYK C>T	1	205128669	205128669	C	T	DSTYK	c.2238+6G>A	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205128669C>T	(Likely) benign	1 lab	f850ac0830
20:62851219 MYT1 G>A	20	62851219	62851219	G	A	MYT1	c.2125G>A	NM_004535.3	NP_004526.1:p.(Ala709Thr)	NC_000020.10:g.62851219G>A	(Likely) benign	1 lab	f850dee1cf
12:49424098 KMT2D G>A	12	49424098	49424098	G	A	KMT2D	c.13964C>T	NM_003482.4	NP_003473.3:p.(Ala4655Val)	NC_000012.11:g.49424098G>A	(Likely) benign	1 lab	f851028e4f
12:110013843 MVK G>A	12	110013843	110013843	G	A	MVK	c.119G>A	NM_000431.4	NP_000422.1:p.(Arg40Gln)	NC_000012.11:g.110013843G>A	VUS	1 lab	2ed734d33d
17:7579706 TP53 G>A	17	7579706	7579706	G	A	TP53	c.90C>T	NM_000546.6	NP_000537.3:p.(Asn30=)	NC_000017.10:g.7579706G>A	(Likely) benign	1 lab	f852baa670
19:40541148 ZNF780B G>A	19	40541148	40541148	G	A	ZNF780B	c.1618C>T	NM_001005851.3	NP_001005851.1:p.(Leu540Phe)	NC_000019.9:g.40541148G>A	VUS	1 lab	f852f66344
3:173322544 NLGN1 C>A	3	173322544	173322544	C	A	NLGN1	c.156C>A	NM_001365925.2	NP_001352854.1:p.(Asp52Glu)	NC_000003.11:g.173322544C>A	(Likely) benign	1 lab	f853eb3201
16:28944833 CD19 A>G	16	28944833	28944833	A	G	CD19	c.835+3A>G	NM_001770.5	NP_001761.3:p.?	NC_000016.9:g.28944833A>G	VUS	1 lab	31cfed009e
13:24895293 C1QTNF9 T>G	13	24895293	24895293	T	G	C1QTNF9	c.389T>G	NM_178540.5	NP_848635.2:p.(Val130Gly)	NC_000013.10:g.24895293T>G	(Likely) benign	1 lab	f8553e3de2
7:151921524 KMT2C T>G	7	151921524	151921524	T	G	KMT2C	c.3154A>C	NM_170606.3	NP_733751.2:p.(Lys1052Gln)	NC_000007.13:g.151921524T>G	(Likely) benign	1 lab	f85728d8c9
8:113402946 CSMD3 T>C	8	113402946	113402946	T	C	CSMD3	c.5881A>G	NM_198123.2	NP_937756.1:p.(Asn1961Asp)	NC_000008.10:g.113402946T>C	(Likely) benign	1 lab	f8581d9149
7:31010747 GHRHR C>T	7	31010747	31010747	C	T	GHRHR	c.380C>T	NM_000823.4	NP_000814.2:p.(Ser127Phe)	NC_000007.13:g.31010747C>T	VUS	1 lab	f85880c259
15:40093448 GPR176 G>C	15	40093448	40093448	G	C	GPR176	c.1433C>G	NM_007223.3	NP_009154.1:p.(Pro478Arg)	NC_000015.9:g.40093448G>C	VUS	1 lab	f859542498
5:13886240 DNAH5 T>A	5	13886240	13886240	T	A	DNAH5	c.2578-2A>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13886240T>A	(Likely) benign	1 lab	f8595a5ab2
7:635796 PRKAR1B C>T	7	635796	635796	C	T	PRKAR1B	c.695G>A	NM_001164760.2	NP_001158232.1:p.(Arg232Gln)	NC_000007.13:g.635796C>T	(Likely) benign	1 lab	f859c7da4c
2:179733928 CCDC141 G>A	2	179733928	179733928	G	A	CCDC141	c.2310C>T	NM_173648.4	NP_775919.3:p.(His770=)	NC_000002.11:g.179733928G>A	(Likely) benign	1 lab	f85a2e2d90
3:14709578 CCDC174 G>A	3	14709578	14709578	G	A	CCDC174	c.842G>A	NM_016474.5	NP_057558.3:p.(Arg281Gln)	NC_000003.11:g.14709578G>A	VUS	1 lab	f86976f3be
14:36192309 RALGAPA1 AT>A	14	36192309	36192311	AT	A	RALGAPA1	c.2027del	NM_001346249.2	NP_001333178.1:p.(Asn676IlefsTer15)	NC_000014.8:g.36192311del	(Likely) pathogenic	1 lab	f85b8cad53
19:48613763 PLA2G4C G>A	19	48613763	48613763	G	A	PLA2G4C	c.-52C>T	NM_003706.3	NP_003697.2:p.?	NC_000019.9:g.48613763G>A	(Likely) benign	1 lab	f85c5772c7
2:86297193 POLR1A C>T	2	86297193	86297193	C	T	POLR1A	c.1814G>A	NM_015425.6	NP_056240.2:p.(Arg605Gln)	NC_000002.11:g.86297193C>T	VUS	1 lab	f85fa47a5e
2:225378293 CUL3 T>C	2	225378293	225378293	T	C	CUL3	c.602A>G	NM_003590.5	NP_003581.1:p.(Tyr201Cys)	NC_000002.11:g.225378293T>C	VUS	1 lab	f8627decd7
2:189860421 COL3A1 C>T	2	189860421	189860421	C	T	COL3A1	c.1513C>T	NM_000090.4	NP_000081.2:p.(Pro505Ser)	NC_000002.11:g.189860421C>T	VUS	1 lab	f862883a9b
12:50135941 TMBIM6 C>G	12	50135941	50135941	C	G	TMBIM6	c.-31+547C>G	NM_003217.3	NP_003208.2:p.?	NC_000012.11:g.50135941C>G	VUS	1 lab	f862ca3ca7
X:153036439 PLXNB3 A>G	X	153036439	153036439	A	G	PLXNB3	c.2156A>G	NM_005393.3	NP_005384.2:p.(His719Arg)	NC_000023.10:g.153036439A>G	VUS	1 lab	f863cb2789
5:150943074 FAT2 T>C	5	150943074	150943074	T	C	FAT2	c.3386A>G	NM_001447.3	NP_001438.1:p.(Asp1129Gly)	NC_000005.9:g.150943074T>C	VUS	1 lab	f864d381b6
3:57232242 HESX1 T>C	3	57232242	57232242	T	C	HESX1	c.541A>G	NM_003865.3	NP_003856.1:p.(Thr181Ala)	NC_000003.11:g.57232242T>C	VUS	1 lab	f865345fa9
22:46762946 CELSR1 C>T	22	46762946	46762946	C	T	CELSR1	c.8149G>A	NM_001378328.1	NP_001365257.1:p.(Gly2717Ser)	NC_000022.10:g.46762946C>T	(Likely) benign	1 lab	f8664be73e
6:133846174 EYA4 G>A	6	133846174	133846174	G	A	EYA4	c.1739-118G>A	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133846174G>A	(Likely) benign	1 lab	f866649dcb
21:34861435 DNAJC28 G>C	21	34861435	34861435	G	C	DNAJC28	c.266C>G	NM_001040192.3	NP_001035282.1:p.(Ser89Cys)	NC_000021.8:g.34861435G>C	VUS	1 lab	f866e394c0
19:7623811 PNPLA6 G>A	19	7623811	7623811	G	A	PNPLA6	c.3473G>A	NM_001166114.2	NP_001159586.1:p.(Ser1158Asn)	NC_000019.9:g.7623811G>A	VUS	1 lab	f8673aade4
8:70667845 SLCO5A1 T>C	8	70667845	70667845	T	C	SLCO5A1	c.1072A>G	NM_030958.3	NP_112220.2:p.(Met358Val)	NC_000008.10:g.70667845T>C	VUS	1 lab	f868511876
3:73673262 PDZRN3 C>G	3	73673262	73673262	C	G	PDZRN3	c.715G>C	NM_015009.3	NP_055824.1:p.(Gly239Arg)	NC_000003.11:g.73673262C>G	(Likely) benign	1 lab	f868813826
X:48337477 FTSJ1 C>G	X	48337477	48337477	C	G	FTSJ1	c.334C>G	NM_012280.4	NP_036412.1:p.(Leu112Val)	NC_000023.10:g.48337477C>G	(Likely) benign	1 lab	f86a5c0b9b
1:236998946 MTR A>G	1	236998946	236998946	A	G	MTR	c.1288A>G	NM_000254.3	NP_000245.2:p.(Arg430Gly)	NC_000001.10:g.236998946A>G	VUS	1 lab	f86b4c7127
X:49105270 CCDC22 C>CT	X	49105270	49105271	C	CT	CCDC22	c.1432-7dup	NM_014008.5	NP_054727.1:p.?	NC_000023.10:g.49105271dup	(Likely) benign	1 lab	f86c357f32
1:104080027 RNPC3 C>T	1	104080027	104080027	C	T	RNPC3	c.688C>T	NM_017619.4	NP_060089.1:p.(Pro230Ser)	NC_000001.10:g.104080027C>T	VUS	1 lab	f86cde5786
3:159976432 IFT80 GA>G	3	159976432	159976442	GA	G	IFT80	c.2224-10del	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.159976442del	(Likely) benign	1 lab	f86f2c0f1b
2:211163209 MYL1 C>T	2	211163209	211163209	C	T	MYL1	c.239G>A	NM_079420.3	NP_524144.1:p.(Arg80Gln)	NC_000002.11:g.211163209C>T	VUS	1 lab	f86f597230
4:57267050 PPAT C>T	4	57267050	57267050	C	T	PPAT	c.914G>A	NM_002703.5	NP_002694.3:p.(Arg305His)	NC_000004.11:g.57267050C>T	VUS	1 lab	f86f8292be
X:36089958 CFAP47 TAAG>T	X	36089958	36089965	TAAG	T	CFAP47	c.4340_4342del	NM_001304548.2	NP_001291477.1:p.(Lys1447del)	NC_000023.10:g.36089963_36089965del	(Likely) benign	1 lab	f86fb8fa16
12:56755457 APOF G>C	12	56755457	56755457	G	C	APOF	c.533C>G	NM_001638.4	NP_001629.1:p.(Ala178Gly)	NC_000012.11:g.56755457G>C	(Likely) benign	1 lab	f877d89a64
X:140994157 MAGEC1 C>T	X	140994157	140994157	C	T	MAGEC1	c.967C>T	NM_005462.5	NP_005453.2:p.(Pro323Ser)	NC_000023.10:g.140994157C>T	(Likely) benign	1 lab	f879c1ad5d
5:138715502 SLC23A1 C>T	5	138715502	138715502	C	T	SLC23A1	c.790G>A	NM_005847.5	NP_005838.3:p.(Val264Met)	NC_000005.9:g.138715502C>T	(Likely) benign	1 lab	f87cb6b7e9
11:89223657 NOX4 G>A	11	89223657	89223657	G	A	NOX4	c.122C>T	NM_016931.5	NP_058627.2:p.(Pro41Leu)	NC_000011.9:g.89223657G>A	VUS	1 lab	f87d72ee6f
16:72821198 ZFHX3 G>C	16	72821198	72821198	G	C	ZFHX3	c.10977C>G	NM_006885.4	NP_008816.3:p.(Asp3659Glu)	NC_000016.9:g.72821198G>C	VUS	1 lab	f8849a69d8
X:153040708 PLXNB3 G>A	X	153040708	153040708	G	A	PLXNB3	c.4184G>A	NM_005393.3	NP_005384.2:p.(Ser1395Asn)	NC_000023.10:g.153040708G>A	(Likely) benign	1 lab	f886badc87
16:602302 CAPN15 C>T	16	602302	602302	C	T	CAPN15	c.2509C>T	NM_005632.3	NP_005623.1:p.(Arg837Cys)	NC_000016.9:g.602302C>T	VUS	1 lab	f88819c242
17:79892551 PYCR1 C>T	17	79892551	79892551	C	T	PYCR1	c.611G>A	NM_006907.4	NP_008838.2:p.(Arg204His)	NC_000017.10:g.79892551C>T	VUS	1 lab	f8887402c6
9:13222448 MPDZ A>G	9	13222448	13222448	A	G	MPDZ	c.534-3T>C	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13222448A>G	(Likely) benign	1 lab	f8889b4168
3:58156418 FLNB G>A	3	58156418	58156418	G	A	FLNB	c.7738G>A	NM_001457.4	NP_001448.2:p.(Asp2580Asn)	NC_000003.11:g.58156418G>A	(Likely) benign	1 lab	f888ba5ad8
19:42801253 PAFAH1B3 G>A	19	42801253	42801253	G	A	PAFAH1B3	c.673C>T	NM_002573.4	NP_002564.1:p.(Pro225Ser)	NC_000019.9:g.42801253G>A	VUS	1 lab	f88985789f
11:61537742 MYRF C>A	11	61537742	61537742	C	A	MYRF	c.485C>A	NM_001127392.3	NP_001120864.1:p.(Thr162Asn)	NC_000011.9:g.61537742C>A	(Likely) benign	1 lab	f889993391
7:6472577 DAGLB A>G	7	6472577	6472577	A	G	DAGLB	c.692T>C	NM_139179.4	NP_631918.3:p.(Val231Ala)	NC_000007.13:g.6472577A>G	VUS	1 lab	f88a6aa78c
11:65822590 SF3B2 C>G	11	65822590	65822590	C	G	SF3B2	c.302C>G	NM_006842.3	NP_006833.2:p.(Pro101Arg)	NC_000011.9:g.65822590C>G	(Likely) benign	1 lab	f88be5e1e1
1:14108975 PRDM2 C>T	1	14108975	14108975	C	T	PRDM2	c.4685C>T	NM_001393986.1	NP_001380915.1:p.(Ser1562Leu)	NC_000001.10:g.14108975C>T	(Likely) benign	1 lab	f88d1b82b2
17:6526284 KIAA0753 C>T	17	6526284	6526284	C	T	KIAA0753	c.1022G>A	NM_014804.3	NP_055619.2:p.(Arg341His)	NC_000017.10:g.6526284C>T	VUS	1 lab	f88d6d4ac5
3:121981265 CASR T>C	3	121981265	121981265	T	C	CASR	c.1377+6T>C	NM_000388.4	NP_000379.3:p.?	NC_000003.11:g.121981265T>C	(Likely) benign	1 lab	f895cb482d
14:51087401 ATL1 A>G	14	51087401	51087401	A	G	ATL1	c.947A>G	NM_015915.5	NP_056999.2:p.(Asn316Ser)	NC_000014.8:g.51087401A>G	(Likely) benign	1 lab	f895dc7ad0
4:88537171 DSPP C>A	4	88537171	88537171	C	A	DSPP	c.3357C>A	NM_014208.3	NP_055023.2:p.(Asp1119Glu)	NC_000004.11:g.88537171C>A	(Likely) benign	1 lab	f895f8ba15
7:75614136 POR T>C	7	75614136	75614136	T	C	POR	c.1108T>C	NM_000941.3	NP_000932.3:p.(Tyr370His)	NC_000007.13:g.75614136T>C	VUS	1 lab	f896d2eefc
11:2156654 IGF2 C>T	11	2156654	2156654	C	T	IGF2	c.100G>A	NM_000612.6	NP_000603.1:p.(Gly34Ser)	NC_000011.9:g.2156654C>T	(Likely) pathogenic	1 lab	f89712a80a
12:26348647 SSPN G>C	12	26348647	26348647	G	C	SSPN	c.42G>C	NM_005086.5	NP_005077.2:p.(Gly14=)	NC_000012.11:g.26348647G>C	VUS	1 lab	f898119b9e
1:61818185 NFIA A>G	1	61818185	61818185	A	G	NFIA	c.764A>G	NM_001134673.4	NP_001128145.1:p.(Tyr255Cys)	NC_000001.10:g.61818185A>G	VUS	1 lab	f8982aaefc
19:42795793 CIC G>A	19	42795793	42795793	G	A	CIC	c.5509G>A	NM_001386298.1	NP_001373227.1:p.(Ala1837Thr)	NC_000019.9:g.42795793G>A	(Likely) benign	1 lab	f8987d3c86
19:42776753 CIC G>A	19	42776753	42776753	G	A	CIC	c.818G>A	NM_001386298.1	NP_001373227.1:p.(Cys273Tyr)	NC_000019.9:g.42776753G>A	VUS	1 lab	f898b7e1c6
3:93595998 PROS1 C>T	3	93595998	93595998	C	T	PROS1	c.1682G>A	NM_000313.4	NP_000304.2:p.(Arg561Gln)	NC_000003.11:g.93595998C>T	VUS	1 lab	f8991b22c0
X:99663565 PCDH19 G>T	X	99663565	99663565	G	T	PCDH19	c.31C>A	NM_001184880.2	NP_001171809.1:p.(Leu11Met)	NC_000023.10:g.99663565G>T	(Likely) benign	1 lab	f89a2a2db9
16:624148 PIGQ C>T	16	624148	624148	C	T	PIGQ	c.74C>T	NM_004204.5	NP_004195.2:p.(Pro25Leu)	NC_000016.9:g.624148C>T	VUS	1 lab	f89afe956d
2:10925139 ATP6V1C2 C>T	2	10925139	10925139	C	T	ATP6V1C2	c.*1750C>T	NM_001039362.2	NP_001034451.1:p.?	NC_000002.11:g.10925139C>T	VUS	1 lab	f89d72fa9d
4:186379867 CCDC110 G>A	4	186379867	186379867	G	A	CCDC110	c.1874C>T	NM_152775.4	NP_689988.1:p.(Thr625Met)	NC_000004.11:g.186379867G>A	VUS	1 lab	f89e37bb45
1:7889986 PER3 TCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCC>T	1	7889986	7890038	TCCTACTGCCAGCGCTCTGTCCACAGGATCGCCTCCCATGAAGAATCCATCCC	T	PER3	c.2980_3031del	NM_001377275.1	NP_001364204.1:p.(Pro994IlefsTer14)	NC_000001.10:g.7889987_7890038del	VUS	1 lab	f89e44063d
16:14041987 ERCC4 A>G	16	14041987	14041987	A	G	ERCC4	c.2534A>G	NM_005236.3	NP_005227.1:p.(Asn845Ser)	NC_000016.9:g.14041987A>G	(Likely) benign	1 lab	f89f340b80
17:48693711 CACNA1G G>C	17	48693711	48693711	G	C	CACNA1G	c.4987G>C	NM_018896.5	NP_061496.2:p.(Val1663Leu)	NC_000017.10:g.48693711G>C	VUS	1 lab	f89f45e561
12:49375064 WNT1 G>C	12	49375064	49375064	G	C	WNT1	c.754G>C	NM_005430.4	NP_005421.1:p.(Gly252Arg)	NC_000012.11:g.49375064G>C	VUS	1 lab	f8b02249c4
7:156798342 MNX1 C>T	7	156798342	156798342	C	T	MNX1	c.1078G>A	NM_005515.4	NP_005506.3:p.(Glu360Lys)	NC_000007.13:g.156798342C>T	(Likely) benign	1 lab	f89f4b21bc
3:143082391 SLC9A9 C>A	3	143082391	143082391	C	A	SLC9A9	c.1539G>T	NM_173653.4	NP_775924.1:p.(Leu513Phe)	NC_000003.11:g.143082391C>A	(Likely) benign	1 lab	f89fe07e3c
14:50582635 VCPKMT A>C	14	50582635	50582635	A	C	VCPKMT	c.378-6T>G	NM_024558.3	NP_078834.2:p.?	NC_000014.8:g.50582635A>C	(Likely) benign	1 lab	f8a306602b
20:60770931 MTG2 A>G	20	60770931	60770931	A	G	MTG2	c.278A>G	NM_015666.4	NP_056481.1:p.(His93Arg)	NC_000020.10:g.60770931A>G	(Likely) benign	1 lab	f8a33386c0
12:112892466 PTPN11 A>G	12	112892466	112892466	A	G	PTPN11	c.624A>G	NM_002834.5	NP_002825.3:p.(Thr208=)	NC_000012.11:g.112892466A>G	(Likely) benign	1 lab	f8a38f8af3
10:74311075 MICU1 G>C	10	74311075	74311075	G	C	MICU1	c.355C>G	NM_001195518.2	NP_001182447.1:p.(Arg119Gly)	NC_000010.10:g.74311075G>C	VUS	1 lab	f8a47d23cd
16:30773060 CFAP119 G>A	16	30773060	30773060	G	A	CFAP119	c.10C>T	NM_001014979.3	NP_001014979.2:p.(Arg4Cys)	NC_000016.9:g.30773060G>A	VUS	1 lab	f8a5082457
10:128788813 DOCK1 A>T	10	128788813	128788813	A	T	DOCK1	c.419A>T	NM_001290223.2	NP_001277152.2:p.(Asp140Val)	NC_000010.10:g.128788813A>T	VUS	1 lab	f8a6021f83
20:43052756 HNF4A C>T	20	43052756	43052756	C	T	HNF4A	c.991C>T	NM_000457.5	NP_000448.3:p.(Arg331Cys)	NC_000020.10:g.43052756C>T	(Likely) pathogenic	1 lab	f8a6d91a50
7:107592549 LAMB1 G>A	7	107592549	107592549	G	A	LAMB1	c.3199C>T	NM_002291.3	NP_002282.2:p.(Arg1067Cys)	NC_000007.13:g.107592549G>A	VUS	1 lab	f8a77580b0
10:17632437 HACD1 G>A	10	17632437	17632437	G	A	HACD1	c.793C>T	NM_014241.4	NP_055056.3:p.(Gln265Ter)	NC_000010.10:g.17632437G>A	(Likely) pathogenic	1 lab	f8ad11e140
9:27220104 TEK G>A	9	27220104	27220104	G	A	TEK	c.3161G>A	NM_000459.5	NP_000450.3:p.(Gly1054Asp)	NC_000009.11:g.27220104G>A	VUS	1 lab	f8aebb406d
19:5896591 NDUFA11 G>A	19	5896591	5896591	G	A	NDUFA11	c.191-5C>T	NM_175614.5	NP_783313.1:p.?	NC_000019.9:g.5896591G>A	(Likely) benign	1 lab	f8af9c9817
X:117752613 DOCK11 T>G	X	117752613	117752613	T	G	DOCK11	c.3393T>G	NM_144658.4	NP_653259.3:p.(Tyr1131Ter)	NC_000023.10:g.117752613T>G	VUS	1 lab	f8afe0e626
19:48480677 BSPH1 G>A	19	48480677	48480677	G	A	BSPH1	c.209C>T	NM_001128326.2	NP_001121798.1:p.(Ser70Leu)	NC_000019.9:g.48480677G>A	VUS	1 lab	f8b04d6a26
1:228336122 GUK1 C>T	1	228336122	228336122	C	T	GUK1	c.589C>T	NM_001159390.2	NP_001152862.1:p.(Gln197Ter)	NC_000001.10:g.228336122C>T	VUS	1 lab	f8b0c5e24c
12:56081763 ITGA7 G>A	12	56081763	56081763	G	A	ITGA7	c.3175C>T	NM_002206.3	NP_002197.2:p.(Leu1059=)	NC_000012.11:g.56081763G>A	(Likely) benign	1 lab	f8b1830837
4:54364882 LNX1 T>C	4	54364882	54364882	T	C	LNX1	c.904A>G	NM_001126328.3	NP_001119800.1:p.(Ile302Val)	NC_000004.11:g.54364882T>C	(Likely) benign	1 lab	f8b1bbb3dd
5:42565967 GHR T>C	5	42565967	42565967	T	C	GHR	c.-10T>C	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42565967T>C	VUS	1 lab	f8b24a4d62
19:50364805 PNKP CA>C	19	50364805	50364806	CA	C	PNKP	c.1387-39del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50364806del	(Likely) benign	1 lab	f8b50054ed
13:42407528 VWA8 C>T	13	42407528	42407528	C	T	VWA8	c.1565G>A	NM_015058.2	NP_055873.1:p.(Gly522Asp)	NC_000013.10:g.42407528C>T	VUS	1 lab	f8b5068a04
5:37006470 NIPBL TGAA>T	5	37006470	37006482	TGAA	T	NIPBL	c.3877_3879del	NM_133433.4	NP_597677.2:p.(Glu1293del)	NC_000005.9:g.37006480_37006482del	VUS	1 lab	f8b51c0190
2:179454057 TTN G>A	2	179454057	179454057	G	A	TTN	c.62395C>T	NM_001267550.2	NP_001254479.2:p.(Pro20799Ser)	NC_000002.11:g.179454057G>A	VUS	1 lab	f8b885a979
10:102020047 CWF19L1 T>C	10	102020047	102020047	T	C	CWF19L1	c.217A>G	NM_018294.6	NP_060764.3:p.(Asn73Asp)	NC_000010.10:g.102020047T>C	VUS	1 lab	f8bb07df81
5:160067533 ATP10B C>T	5	160067533	160067533	C	T	ATP10B	c.935G>A	NM_025153.3	NP_079429.2:p.(Arg312His)	NC_000005.9:g.160067533C>T	VUS	1 lab	f8bb8ce155
11:64521463 PYGM G>C	11	64521463	64521463	G	C	PYGM	c.1127C>G	NM_005609.4	NP_005600.1:p.(Thr376Ser)	NC_000011.9:g.64521463G>C	VUS	1 lab	f8bcd22172
8:144993159 PLEC G>A	8	144993159	144993159	G	A	PLEC	c.10830C>T	NM_201384.3	NP_958786.1:p.(Ala3610=)	NC_000008.10:g.144993159G>A	(Likely) benign	1 lab	f8bf72eeeb
X:118230653 KIAA1210 C>A	X	118230653	118230653	C	A	KIAA1210	c.650G>T	NM_001394962.1	NP_001381891.1:p.(Ser217Ile)	NC_000023.10:g.118230653C>A	VUS	1 lab	f8bfe0bdbf
12:111923670 ATXN2 C>T	12	111923670	111923670	C	T	ATXN2	c.2305-1G>A	NM_001372574.1	NP_001359503.1:p.?	NC_000012.11:g.111923670C>T	VUS	1 lab	f8c1aa6cdd
19:13340750 CACNA1A A>G	19	13340750	13340750	A	G	CACNA1A	c.5546+146T>C	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13340750A>G	(Likely) benign	1 lab	31d9fc47f5
12:69085702 NUP107 A>AACTCCATCACTTTTCTGTATTTTTACTTTTTTGTTTTTTTTTAAGGTTACTAATCTGGATGACAGTAACTGGGCAGCTGCATT	12	69085702	69085785	A	AACTCCATCACTTTTCTGTATTTTTACTTTTTTGTTTTTTTTTAAGGTTACTAATCTGGATGACAGTAACTGGGCAGCTGCATT	NUP107	c.304-45_341dup	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69085703_69085785dup	VUS	1 lab	f8c24c51ec
9:35811879 SPAG8 G>A	9	35811879	35811879	G	A	SPAG8	c.164C>T	NM_001039592.2	NP_001034681.1:p.(Ala55Val)	NC_000009.11:g.35811879G>A	(Likely) benign	1 lab	f8c43a6a2a
1:27102188 ARID1A A>G	1	27102188	27102188	A	G	ARID1A	c.5114A>G	NM_006015.6	NP_006006.3:p.(Asn1705Ser)	NC_000001.10:g.27102188A>G	(Likely) benign	1 lab	f8c4649d01
11:30032717 KCNA4 T>A	11	30032717	30032717	T	A	KCNA4	c.1509A>T	NM_002233.4	NP_002224.1:p.(Glu503Asp)	NC_000011.9:g.30032717T>A	VUS	1 lab	f8c4e012fa
1:26138286 SELENON G>A	1	26138286	26138286	G	A	SELENON	c.1095G>A	NM_206926.2	NP_996809.1:p.(Val365=)	NC_000001.10:g.26138286G>A	VUS	1 lab	f8c66e5d66
11:17409485 KCNJ11 G>A	11	17409485	17409485	G	A	KCNJ11	c.154C>T	NM_000525.4	NP_000516.3:p.(Gln52Ter)	NC_000011.9:g.17409485G>A	VUS	1 lab	f8c7731068
4:9246001 USP17L17 A>C	4	9246001	9246001	A	C	USP17L17	c.397A>C	NM_001256857.1	NP_001243786.1:p.(Thr133Pro)	NC_000004.11:g.9246001A>C	VUS	1 lab	f8c8b3bddb
8:145736056 SLC33A2 C>T	8	145736056	145736056	C	T	SLC33A2	c.906C>T	NM_138431.3	NP_612440.1:p.(Phe302=)	NC_000008.10:g.145736056C>T	(Likely) benign	1 lab	f8c947af7b
5:1798739 MRPL36 T>C	5	1798739	1798739	T	C	MRPL36	c.311A>G	NM_032479.4	NP_115868.1:p.(Ter104TrpextTer35)	NC_000005.9:g.1798739T>C	(Likely) benign	1 lab	f8ca208fea
3:196735711 MELTF C>A	3	196735711	196735711	C	A	MELTF	c.1651G>T	NM_005929.6	NP_005920.2:p.(Glu551Ter)	NC_000003.11:g.196735711C>A	VUS	1 lab	f8ca704cfa
22:50969241 CIMAP1B AC>A	22	50969241	50969245	AC	A	CIMAP1B	c.580del	NM_001014440.4	NP_001014440.2:p.(Val194SerfsTer55)	NC_000022.10:g.50969245del	VUS	1 lab	f8cb90e736
X:6451887 VCX3A G>T	X	6451887	6451887	G	T	VCX3A	c.460C>A	NM_016379.4	NP_057463.2:p.(Leu154Met)	NC_000023.10:g.6451887G>T	(Likely) benign	1 lab	f8ce0b6b33
4:85645696 WDFY3 T>G	4	85645696	85645696	T	G	WDFY3	c.7324A>C	NM_014991.6	NP_055806.2:p.(Met2442Leu)	NC_000004.11:g.85645696T>G	VUS	1 lab	f8ce66555c
2:179605423 TTN T>G	2	179605423	179605423	T	G	TTN	c.12537A>C	NM_001267550.2	NP_001254479.2:p.(Ser4179=)	NC_000002.11:g.179605423T>G	(Likely) benign	1 lab	f8cff9b1e1
21:47545702 COL6A2 C>T	21	47545702	47545702	C	T	COL6A2	c.1973C>T	NM_001849.4	NP_001840.3:p.(Thr658Met)	NC_000021.8:g.47545702C>T	VUS	1 lab	f8d02dcb7c
6:31916231 CFB A>C	6	31916231	31916231	A	C	CFB	c.978A>C	NM_001710.5	NP_001701.2:p.(Glu326Asp)	NC_000006.11:g.31916231A>C	(Likely) benign	1 lab	31dad46293
16:3779445 CREBBP C>T	16	3779445	3779445	C	T	CREBBP	c.5603G>A	NM_004380.3	NP_004371.2:p.(Arg1868Gln)	NC_000016.9:g.3779445C>T	(Likely) pathogenic	1 lab	f8d1774ff8
6:86324763 SYNCRIP C>A	6	86324763	86324763	C	A	SYNCRIP	c.1583G>T	NM_006372.5	NP_006363.4:p.(Gly528Val)	NC_000006.11:g.86324763C>A	VUS	1 lab	f8d5f14e06
19:11095544 SMARCA4 A>T	19	11095544	11095544	A	T	SMARCA4	c.223-405A>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11095544A>T	(Likely) benign	1 lab	f8d5ffcf92
5:79950736 DHFR C>G	5	79950736	79950736	C	G	DHFR	c.-428G>C	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950736C>G	(Likely) benign	1 lab	f8d6be51fd
X:47104296 USP11 C>T	X	47104296	47104296	C	T	USP11	c.2059C>T	NM_001371072.1	NP_001358001.1:p.(Arg687Cys)	NC_000023.10:g.47104296C>T	VUS	1 lab	f8d718765f
2:48026249 MSH6 AAAAG>A	2	48026249	48026254	AAAAG	A	MSH6	c.1129_1132del	NM_000179.3	NP_000170.1:p.(Lys377GlufsTer33)	NC_000002.11:g.48026251_48026254del	(Likely) pathogenic	1 lab	f8d9fa0e85
22:37902322 CARD10 G>T	22	37902322	37902322	G	T	CARD10	c.1260C>A	NM_014550.4	NP_055365.2:p.(Arg420=)	NC_000022.10:g.37902322G>T	(Likely) benign	1 lab	31db005cbd
14:105417987 AHNAK2 T>A	14	105417987	105417987	T	A	AHNAK2	c.3801A>T	NM_138420.4	NP_612429.2:p.(Glu1267Asp)	NC_000014.8:g.105417987T>A	VUS	1 lab	f8dabe6837
2:127806137 BIN1 C>T	2	127806137	127806137	C	T	BIN1	c.1747G>A	NM_139343.3	NP_647593.1:p.(Val583Ile)	NC_000002.11:g.127806137C>T	(Likely) benign	1 lab	f8daf48dcb
1:94335436 DNTTIP2 A>C	1	94335436	94335436	A	C	DNTTIP2	c.2242T>G	NM_014597.5	NP_055412.2:p.(Phe748Val)	NC_000001.10:g.94335436A>C	VUS	1 lab	f8dafc32d7
11:103086481 DYNC2H1 C>G	11	103086481	103086481	C	G	DYNC2H1	c.8726C>G	NM_001377.3	NP_001368.2:p.(Ala2909Gly)	NC_000011.9:g.103086481C>G	VUS	1 lab	f8dce04317
X:114414073 LRCH2 C>T	X	114414073	114414073	C	T	LRCH2	c.781G>A	NM_020871.4	NP_065922.3:p.(Glu261Lys)	NC_000023.10:g.114414073C>T	(Likely) benign	1 lab	f8de1c80f2
10:79795104 RPS24 T>A	10	79795104	79795104	T	A	RPS24	c.4-6T>A	NM_033022.4	NP_148982.1:p.?	NC_000010.10:g.79795104T>A	VUS	1 lab	f8ded204e3
6:36714220 CPNE5 C>G	6	36714220	36714220	C	G	CPNE5	c.1153G>C	NM_020939.2	NP_065990.1:p.(Gly385Arg)	NC_000006.11:g.36714220C>G	(Likely) benign	1 lab	f8e0dd4f1f
3:9834819 ARPC4 C>CGGGCCCCCGGCCAG	3	9834819	9834835	C	CGGGCCCCCGGCCAG	ARPC4	c.3+14_3+27dup	NM_005718.5	NP_005709.1:p.?	NC_000003.11:g.9834822_9834835dup	(Likely) benign	1 lab	f8e44fae23
19:12791030 DHPS T>C	19	12791030	12791030	T	C	DHPS	c.317A>G	NM_001930.4	NP_001921.1:p.(Asn106Ser)	NC_000019.9:g.12791030T>C	VUS	1 lab	f8e5edc8c1
2:210642131 UNC80 C>A	2	210642131	210642131	C	A	UNC80	c.448C>A	NM_001371986.1	NP_001358915.1:p.(His150Asn)	NC_000002.11:g.210642131C>A	(Likely) benign	1 lab	f8e7299269
15:75656920 MAN2C1 ATCT>A	15	75656920	75656926	ATCT	A	MAN2C1	c.506_508del	NM_006715.4	NP_006706.2:p.(Lys169del)	NC_000015.9:g.75656924_75656926del	VUS	1 lab	f8e7662873
3:38518983 ACVR2B TA>T	3	38518983	38518984	TA	T	ACVR2B	c.259del	NM_001106.4	NP_001097.2:p.(Arg87GlyfsTer101)	NC_000003.11:g.38518984del	VUS	1 lab	f8e7d60424
19:1469821 APC2 C>A	19	1469821	1469821	C	A	APC2	c.6521C>A	NM_005883.3	NP_005874.1:p.(Pro2174His)	NC_000019.9:g.1469821C>A	VUS	1 lab	f92c40eee3
8:144990783 PLEC C>T	8	144990783	144990783	C	T	PLEC	c.13206G>A	NM_201384.3	NP_958786.1:p.(Thr4402=)	NC_000008.10:g.144990783C>T	(Likely) benign	1 lab	f8e80b19e7
17:67212142 ABCA10 C>G	17	67212142	67212142	C	G	ABCA10	c.673-1G>C	NM_001377321.1	NP_001364250.1:p.?	NC_000017.10:g.67212142C>G	VUS	1 lab	f8ea989cce
16:30723671 SRCAP A>G	16	30723671	30723671	A	G	SRCAP	c.1904A>G	NM_006662.3	NP_006653.2:p.(Lys635Arg)	NC_000016.9:g.30723671A>G	VUS	1 lab	f8f888b837
7:140624403 BRAF GCGGCGCCGGCGC>G	7	140624403	140624425	GCGGCGCCGGCGC	G	BRAF	c.89_100del	NM_004333.6	NP_004324.2:p.(Gly30_Ala33del)	NC_000007.13:g.140624414_140624425del	VUS	1 lab	f8ebaf5b5d
2:71188770 ATP6V1B1 G>C	2	71188770	71188770	G	C	ATP6V1B1	c.732G>C	NM_001692.4	NP_001683.2:p.(Gln244His)	NC_000002.11:g.71188770G>C	VUS	1 lab	f8ebe5af43
9:114304325 ZNF483 C>G	9	114304325	114304325	C	G	ZNF483	c.1110C>G	NM_133464.5	NP_597721.2:p.(His370Gln)	NC_000009.11:g.114304325C>G	(Likely) benign	1 lab	f8ec7395fe
11:71193975 NADSYN1 C>T	11	71193975	71193975	C	T	NADSYN1	c.1231C>T	NM_018161.5	NP_060631.2:p.(Arg411Cys)	NC_000011.9:g.71193975C>T	VUS	1 lab	f8edfafa7c
2:179425195 TTN G>A	2	179425195	179425195	G	A	TTN	c.85664C>T	NM_001267550.2	NP_001254479.2:p.(Thr28555Met)	NC_000002.11:g.179425195G>A	VUS	1 lab	2ede1f73f2
3:47163851 SETD2 T>C	3	47163851	47163851	T	C	SETD2	c.2275A>G	NM_014159.7	NP_054878.5:p.(Lys759Glu)	NC_000003.11:g.47163851T>C	(Likely) benign	1 lab	f8eea5ad01
1:215987179 USH2A G>A	1	215987179	215987179	G	A	USH2A	c.9638C>T	NM_206933.4	NP_996816.3:p.(Pro3213Leu)	NC_000001.10:g.215987179G>A	(Likely) benign	1 lab	f8eee00dab
X:67943669 STARD8 G>A	X	67943669	67943669	G	A	STARD8	c.3001G>A	NM_001142503.3	NP_001135975.1:p.(Asp1001Asn)	NC_000023.10:g.67943669G>A	(Likely) benign	1 lab	f8ef1a5913
6:10874583 GCM2 A>G	6	10874583	10874583	A	G	GCM2	c.1166T>C	NM_004752.4	NP_004743.1:p.(Val389Ala)	NC_000006.11:g.10874583A>G	VUS	1 lab	f8f00e969a
21:46900668 COL18A1 G>A	21	46900668	46900668	G	A	COL18A1	c.1507G>A	NM_001379500.1	NP_001366429.1:p.(Gly503Ser)	NC_000021.8:g.46900668G>A	(Likely) benign	1 lab	f8f0fb9b05
21:30307554 LTN1 A>G	21	30307554	30307554	A	G	LTN1	c.4752T>C	NM_015565.3	NP_056380.3:p.(Asn1584=)	NC_000021.8:g.30307554A>G	VUS	1 lab	f8f17ecb0c
1:144871889 PDE4DIP A>C	1	144871889	144871889	A	C	PDE4DIP	c.5279-8T>G	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144871889A>C	VUS	1 lab	f8f2720df3
13:23906688 SACS A>G	13	23906688	23906688	A	G	SACS	c.11327T>C	NM_014363.6	NP_055178.3:p.(Ile3776Thr)	NC_000013.10:g.23906688A>G	VUS	1 lab	f8f4e25b6d
6:129774153 LAMA2 A>T	6	129774153	129774153	A	T	LAMA2	c.6450A>T	NM_000426.4	NP_000417.3:p.(Ser2150=)	NC_000006.11:g.129774153A>T	(Likely) benign	1 lab	f8f7a07dac
5:123982481 ZNF608 TTGAAGCTGTCGGCC>T	5	123982481	123982503	TTGAAGCTGTCGGCC	T	ZNF608	c.3582_3595del	NM_020747.3	NP_065798.2:p.(Ala1195SerfsTer2)	NC_000005.9:g.123982490_123982503del	VUS	1 lab	f8f8cff693
17:29325782 RNF135 G>A	17	29325782	29325782	G	A	RNF135	c.872G>A	NM_032322.4	NP_115698.3:p.(Arg291His)	NC_000017.10:g.29325782G>A	(Likely) benign	1 lab	f8f8d5cff8
3:129155338 MBD4 GTCCAT>G	3	129155338	129155344	GTCCAT	G	MBD4	c.1144_1148del	NM_001276270.2	NP_001263199.1:p.(Met382GlnfsTer12)	NC_000003.11:g.129155340_129155344del	VUS	1 lab	f8f93bed7f
15:90213229 PLIN1 G>T	15	90213229	90213229	G	T	PLIN1	c.580C>A	NM_002666.5	NP_002657.3:p.(Pro194Thr)	NC_000015.9:g.90213229G>T	(Likely) benign	1 lab	f8fa8c11a5
2:219920229 IHH C>A	2	219920229	219920229	C	A	IHH	c.936G>T	NM_002181.4	NP_002172.2:p.(Leu312=)	NC_000002.11:g.219920229C>A	(Likely) benign	1 lab	f8faeb20bf
10:89717668 PTEN C>CA	10	89717668	89717669	C	CA	PTEN	c.694dup	NM_000314.8	NP_000305.3:p.(Thr232AsnfsTer11)	NC_000010.10:g.89717669dup	(Likely) pathogenic	1 lab	f8fafa98a2
19:39071100 RYR1 G>A	19	39071100	39071100	G	A	RYR1	c.14602G>A	NM_000540.3	NP_000531.2:p.(Glu4868Lys)	NC_000019.9:g.39071100G>A	VUS	1 lab	f8fd139efb
3:182615148 ATP11B A>G	3	182615148	182615148	A	G	ATP11B	c.3106A>G	NM_014616.3	NP_055431.1:p.(Ile1036Val)	NC_000003.11:g.182615148A>G	VUS	1 lab	f8fda05433
7:158672596 DYNC2I1 T>C	7	158672596	158672596	T	C	DYNC2I1	c.795T>C	NM_018051.5	NP_060521.4:p.(Phe265=)	NC_000007.13:g.158672596T>C	VUS	1 lab	f8fe02b0fa
11:76913470 MYO7A G>T	11	76913470	76913470	G	T	MYO7A	c.5168+1G>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76913470G>T	VUS	1 lab	f8fe80ec25
4:187509931 FAT1 C>T	4	187509931	187509931	C	T	FAT1	c.13582G>A	NM_005245.4	NP_005236.2:p.(Glu4528Lys)	NC_000004.11:g.187509931C>T	(Likely) benign	1 lab	f8fedb5d3b
12:48736959 ZNF641 G>A	12	48736959	48736959	G	A	ZNF641	c.1072C>T	NM_001172681.2	NP_001166152.1:p.(His358Tyr)	NC_000012.11:g.48736959G>A	VUS	1 lab	f8ff091e9d
6:42976200 PPP2R5D TCTAC>T	6	42976200	42976205	TCTAC	T	PPP2R5D	c.1015_1018del	NM_006245.4	NP_006236.1:p.(Tyr339ThrfsTer18)	NC_000006.11:g.42976202_42976205del	VUS	1 lab	f90026ae31
1:22333928 CELA3A T>G	1	22333928	22333928	T	G	CELA3A	c.562T>G	NM_005747.5	NP_005738.4:p.(Cys188Gly)	NC_000001.10:g.22333928T>G	VUS	1 lab	f9028f09a8
9:123298752 CDK5RAP2 GTC>G	9	123298752	123298757	GTC	G	CDK5RAP2	c.558_559del	NM_018249.6	NP_060719.4:p.(Glu186AspfsTer32)	NC_000009.11:g.123298756_123298757del	(Likely) pathogenic	1 lab	f902b58bde
9:120475085 TLR4 AG>A	9	120475085	120475087	AG	A	TLR4	c.681del	NM_138554.5	NP_612564.1:p.(Arg227SerfsTer5)	NC_000009.11:g.120475087del	VUS	1 lab	f902e3b5c5
3:183959275 VWA5B2 C>A	3	183959275	183959275	C	A	VWA5B2	c.3181-3C>A	NM_001390846.1	NP_001377775.1:p.?	NC_000003.11:g.183959275C>A	VUS	1 lab	f904cc8071
7:140037084 SLC37A3 C>A	7	140037084	140037084	C	A	SLC37A3	c.1392G>T	NM_207113.3	NP_996996.1:p.(Met464Ile)	NC_000007.13:g.140037084C>A	VUS	1 lab	f9066aaa63
1:22155557 HSPG2 C>T	1	22155557	22155557	C	T	HSPG2	c.12008G>A	NM_005529.7	NP_005520.4:p.(Arg4003Gln)	NC_000001.10:g.22155557C>T	VUS	1 lab	f906a81ebe
10:112404338 RBM20 G>GCAGCCGCCGCCGCCGCCC	10	112404338	112404361	G	GCAGCCGCCGCCGCCGCCC	RBM20	c.132_149dup	NM_001134363.3	NP_001127835.2:p.(Pro50_Gln55dup)	NC_000010.10:g.112404344_112404361dup	VUS	1 lab	f908040c1b
1:54666074 MRPL37 C>T	1	54666074	54666074	C	T	MRPL37	c.158C>T	NM_016491.4	NP_057575.2:p.(Pro53Leu)	NC_000001.10:g.54666074C>T	(Likely) benign	1 lab	f9082a679a
18:2697869 SMCHD1 A>G	18	2697869	2697869	A	G	SMCHD1	c.1172A>G	NM_015295.3	NP_056110.2:p.(Asn391Ser)	NC_000018.9:g.2697869A>G	VUS	1 lab	f908735db1
20:31024425 ASXL1 C>G	20	31024425	31024425	C	G	ASXL1	c.3910C>G	NM_015338.6	NP_056153.2:p.(Leu1304Val)	NC_000020.10:g.31024425C>G	(Likely) benign	1 lab	f90a32cdf2
3:196033842 DYNLT2B T>A	3	196033842	196033842	T	A	DYNLT2B	c.289A>T	NM_152773.5	NP_689986.2:p.(Ile97Phe)	NC_000003.11:g.196033842T>A	VUS	1 lab	f90c4ebf29
1:245027322 HNRNPU G>C	1	245027322	245027322	G	C	HNRNPU	c.288C>G	NM_031844.3	NP_114032.2:p.(Ile96Met)	NC_000001.10:g.245027322G>C	VUS	1 lab	f90cc7c6bc
16:2143589 PKD1 T>C	16	2143589	2143589	T	C	PKD1	c.10972A>G	NM_001009944.3	NP_001009944.3:p.(Lys3658Glu)	NC_000016.9:g.2143589T>C	VUS	1 lab	f90deb8c60
5:37008832 NIPBL A>G	5	37008832	37008832	A	G	NIPBL	c.4421+7A>G	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37008832A>G	(Likely) benign	1 lab	f90ec040cd
6:32800243 TAP2 A>G	6	32800243	32800243	A	G	TAP2	c.1144-5T>C	NM_001290043.2	NP_001276972.1:p.?	NC_000006.11:g.32800243A>G	VUS	1 lab	f911e56c82
15:51291297 AP4E1 C>T	15	51291297	51291297	C	T	AP4E1	c.2933C>T	NM_007347.5	NP_031373.2:p.(Pro978Leu)	NC_000015.9:g.51291297C>T	VUS	1 lab	f913b9c11d
14:74706534 VSX2 G>T	14	74706534	74706534	G	T	VSX2	c.270G>T	NM_182894.3	NP_878314.1:p.(Gln90His)	NC_000014.8:g.74706534G>T	VUS	1 lab	f9154e5f83
22:18301637 MICAL3 G>T	22	18301637	18301637	G	T	MICAL3	c.3790C>A	NM_015241.3	NP_056056.2:p.(Pro1264Thr)	NC_000022.10:g.18301637G>T	VUS	1 lab	f915683706
3:150876519 MED12L A>C	3	150876519	150876519	A	C	MED12L	c.770A>C	NM_001393769.1	NP_001380698.1:p.(Asp257Ala)	NC_000003.11:g.150876519A>C	(Likely) benign	1 lab	f91578980c
2:167094699 SCN9A T>C	2	167094699	167094699	T	C	SCN9A	c.3706A>G	NM_001365536.1	NP_001352465.1:p.(Ile1236Val)	NC_000002.11:g.167094699T>C	VUS	1 lab	f918462ea6
X:18622375 CDKL5 G>A	X	18622375	18622375	G	A	CDKL5	c.1331G>A	NM_001323289.2	NP_001310218.1:p.(Arg444His)	NC_000023.10:g.18622375G>A	VUS	1 lab	f918f188f8
X:20153964 EIF1AX C>T	X	20153964	20153964	C	T	EIF1AX	c.101-5G>A	NM_001412.4	NP_001403.1:p.?	NC_000023.10:g.20153964C>T	(Likely) benign	1 lab	f919c8c06b
6:102134077 GRIK2 A>G	6	102134077	102134077	A	G	GRIK2	c.800A>G	NM_021956.5	NP_068775.1:p.(Glu267Gly)	NC_000006.11:g.102134077A>G	VUS	1 lab	f91aa7868b
16:72993708 ZFHX3 C>T	16	72993708	72993708	C	T	ZFHX3	c.337G>A	NM_006885.4	NP_008816.3:p.(Ala113Thr)	NC_000016.9:g.72993708C>T	(Likely) benign	1 lab	f91b1f86be
20:62044929 KCNQ2 A>G	20	62044929	62044929	A	G	KCNQ2	c.1637T>C	NM_172107.4	NP_742105.1:p.(Met546Thr)	NC_000020.10:g.62044929A>G	(Likely) pathogenic	1 lab	f91d579b10
4:126402668 FAT4 A>T	4	126402668	126402668	A	T	FAT4	c.12605-8A>T	NM_001291303.3	NP_001278232.1:p.?	NC_000004.11:g.126402668A>T	(Likely) benign	1 lab	f91f9b1728
17:41256137 BRCA1 A>T	17	41256137	41256137	A	T	BRCA1	c.441+2T>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256137A>T	(Likely) pathogenic	1 lab	f92363ba55
11:71940703 INPPL1 C>G	11	71940703	71940703	C	G	INPPL1	c.754-4C>G	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71940703C>G	(Likely) benign	1 lab	f9239a039b
5:126758455 MEGF10 G>A	5	126758455	126758455	G	A	MEGF10	c.1684G>A	NM_001256545.2	NP_001243474.1:p.(Gly562Arg)	NC_000005.9:g.126758455G>A	VUS	1 lab	f924871e43
17:3421944 TRPV3 TGAG>T	17	3421944	3421953	TGAG	T	TRPV3	c.2008_2010del	NM_145068.4	NP_659505.1:p.(Leu670del)	NC_000017.10:g.3421951_3421953del	VUS	1 lab	f924c6a8ca
11:75277975 SERPINH1 G>A	11	75277975	75277975	G	A	SERPINH1	c.581G>A	NM_001235.5	NP_001226.2:p.(Arg194His)	NC_000011.9:g.75277975G>A	(Likely) benign	1 lab	f924c736a3
15:56390868 RFX7 C>T	15	56390868	56390868	C	T	RFX7	c.812-294G>A	NM_022841.7	NP_073752.6:p.?	NC_000015.9:g.56390868C>T	(Likely) benign	1 lab	f925cb2d74
6:41557713 FOXP4 C>T	6	41557713	41557713	C	T	FOXP4	c.1162C>T	NM_001012426.2	NP_001012426.1:p.(Pro388Ser)	NC_000006.11:g.41557713C>T	(Likely) benign	1 lab	f926906239
5:140787962 PCDHGB4 A>G	5	140787962	140787962	A	G	PCDHGB4	c.2397+18114A>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140787962A>G	VUS	1 lab	f926cf0f87
14:77706926 TMEM63C T>C	14	77706926	77706926	T	C	TMEM63C	c.1039T>C	NM_020431.4	NP_065164.2:p.(Phe347Leu)	NC_000014.8:g.77706926T>C	VUS	1 lab	f927561e2f
17:27849514 TAOK1 C>T	17	27849514	27849514	C	T	TAOK1	c.2125C>T	NM_020791.4	NP_065842.1:p.(Arg709Ter)	NC_000017.10:g.27849514C>T	(Likely) pathogenic	1 lab	f92b32008c
16:11492234 MISSING G>C	16	11492234	11492234	G	C	MISSING				NC_000016.9:g.11492234G>C	VUS	1 lab	f938a976d4
X:53222025 KDM5C C>G	X	53222025	53222025	C	G	KDM5C	c.*124G>C	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53222025C>G	(Likely) benign	1 lab	f92bb6b748
11:103014003 DYNC2H1 A>G	11	103014003	103014003	A	G	DYNC2H1	c.2581A>G	NM_001377.3	NP_001368.2:p.(Ile861Val)	NC_000011.9:g.103014003A>G	VUS	1 lab	f92c60d68d
6:170153936 ERMARD CTTTTA>C	6	170153936	170153955	CTTTTA	C	ERMARD	c.7-9_7-5del	NM_018341.3	NP_060811.1:p.?	NC_000006.11:g.170153951_170153955del	(Likely) benign	1 lab	f92c6d6317
15:99500554 IGF1R C>T	15	99500554	99500554	C	T	IGF1R	c.3987C>T	NM_000875.5	NP_000866.1:p.(Pro1329=)	NC_000015.9:g.99500554C>T	(Likely) benign	1 lab	f92df9ce58
8:144885944 SCRIB G>C	8	144885944	144885944	G	C	SCRIB	c.3287C>G	NM_182706.5	NP_874365.3:p.(Pro1096Arg)	NC_000008.10:g.144885944G>C	VUS	1 lab	f92e6b562d
1:3347502 PRDM16 C>T	1	3347502	3347502	C	T	PRDM16	c.3351C>T	NM_022114.4	NP_071397.3:p.(Asp1117=)	NC_000001.10:g.3347502C>T	(Likely) benign	1 lab	f930727394
17:2898719 RAP1GAP2 G>A	17	2898719	2898719	G	A	RAP1GAP2	c.1003G>A	NM_015085.5	NP_055900.4:p.(Val335Ile)	NC_000017.10:g.2898719G>A	VUS	1 lab	f930c059c6
9:35805514 NPR2 G>A	9	35805514	35805514	G	A	NPR2	c.1894G>A	NM_003995.4	NP_003986.2:p.(Ala632Thr)	NC_000009.11:g.35805514G>A	VUS	1 lab	f930fb98ff
14:20851902 TEP1 C>T	14	20851902	20851902	C	T	TEP1	c.3710G>A	NM_007110.5	NP_009041.2:p.(Arg1237Gln)	NC_000014.8:g.20851902C>T	VUS	1 lab	f9313ad800
5:149755730 TCOF1 G>A	5	149755730	149755730	G	A	TCOF1	c.1979G>A	NM_001371623.1	NP_001358552.1:p.(Arg660Gln)	NC_000005.9:g.149755730G>A	VUS	1 lab	f935824e4d
4:113199517 TIFA G>A	4	113199517	113199517	G	A	TIFA	c.56C>T	NM_052864.3	NP_443096.1:p.(Thr19Met)	NC_000004.11:g.113199517G>A	(Likely) benign	1 lab	f9360b06e6
8:68130344 ARFGEF1 A>C	8	68130344	68130344	A	C	ARFGEF1	c.4368T>G	NM_006421.5	NP_006412.2:p.(Asn1456Lys)	NC_000008.10:g.68130344A>C	VUS	1 lab	f93615e322
21:45708288 AIRE C>T	21	45708288	45708288	C	T	AIRE	c.599C>T	NM_000383.4	NP_000374.1:p.(Pro200Leu)	NC_000021.8:g.45708288C>T	VUS	1 lab	f937874b24
5:98262080 CHD1 T>C	5	98262080	98262080	T	C	CHD1	c.11A>G	NM_001270.4	NP_001261.2:p.(His4Arg)	NC_000005.9:g.98262080T>C	VUS	1 lab	f9379efa44
6:159404706 RSPH3 T>C	6	159404706	159404706	T	C	RSPH3	c.480A>G	NM_031924.8	NP_114130.4:p.(Ile160Met)	NC_000006.11:g.159404706T>C	VUS	1 lab	f938f56a98
2:36774182 CRIM1 T>G	2	36774182	36774182	T	G	CRIM1	c.2802T>G	NM_016441.3	NP_057525.1:p.(Asp934Glu)	NC_000002.11:g.36774182T>G	(Likely) benign	1 lab	f93b54ad6c
1:197390753 CRB1 C>T	1	197390753	197390753	C	T	CRB1	c.1795C>T	NM_201253.3	NP_957705.1:p.(Leu599Phe)	NC_000001.10:g.197390753C>T	VUS	1 lab	f93ba5ae6f
X:129147841 BCORL1 G>A	X	129147841	129147841	G	A	BCORL1	c.1093G>A	NM_001379451.1	NP_001366380.1:p.(Gly365Ser)	NC_000023.10:g.129147841G>A	VUS	1 lab	f93c14087e
5:42689036 GHR CGA>C	5	42689036	42689042	CGA	C	GHR	c.186_187del	NM_000163.5	NP_000154.1:p.(Glu62AspfsTer9)	NC_000005.9:g.42689041_42689042del	VUS	1 lab	f93c26925d
12:79667872 SYT1 A>G	12	79667872	79667872	A	G	SYT1	c.167-11695A>G	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79667872A>G	(Likely) benign	1 lab	f93c347a19
3:77629163 ROBO2 C>T	3	77629163	77629163	C	T	ROBO2	c.2394C>T	NM_002942.5	NP_002933.1:p.(Ser798=)	NC_000003.11:g.77629163C>T	(Likely) benign	1 lab	31e2aa3b91
10:73580068 PSAP C>G	10	73580068	73580068	C	G	PSAP	c.934G>C	NM_002778.4	NP_002769.1:p.(Asp312His)	NC_000010.10:g.73580068C>G	VUS	1 lab	f93f740c78
16:7721591 RBFOX1 A>G	16	7721591	7721591	A	G	RBFOX1	c.931-5185A>G	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.7721591A>G	VUS	1 lab	f93f897678
4:88996041 PKD2 T>C	4	88996041	88996041	T	C	PKD2	c.2600T>C	NM_000297.4	NP_000288.1:p.(Leu867Pro)	NC_000004.11:g.88996041T>C	VUS	1 lab	f942e163b9
X:18525284 CDKL5 A>G	X	18525284	18525284	A	G	CDKL5	c.64+4A>G	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18525284A>G	(Likely) benign	1 lab	f943c56685
1:214556782 PTPN14 G>C	1	214556782	214556782	G	C	PTPN14	c.2416C>G	NM_005401.5	NP_005392.2:p.(Pro806Ala)	NC_000001.10:g.214556782G>C	VUS	1 lab	f945c6121d
4:57261568 PPAT G>T	4	57261568	57261568	G	T	PPAT	c.1504C>A	NM_002703.5	NP_002694.3:p.(His502Asn)	NC_000004.11:g.57261568G>T	(Likely) benign	1 lab	f94614646c
11:2594155 KCNQ1 C>A	11	2594155	2594155	C	A	KCNQ1	c.860C>A	NM_000218.3	NP_000209.2:p.(Ala287Glu)	NC_000011.9:g.2594155C>A	VUS	1 lab	f955a32305
9:140610839 EHMT1 GTGT>G	9	140610839	140610844	GTGT	G	EHMT1	c.86-236_86-234del	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610842_140610844del	(Likely) benign	1 lab	f947187809
12:116445442 MED13L CT>C	12	116445442	116445443	CT	C	MED13L	c.2013-2del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116445443del	(Likely) benign	1 lab	f94825ec4d
19:18899477 COMP C>T	19	18899477	18899477	C	T	COMP	c.686G>A	NM_000095.3	NP_000086.2:p.(Cys229Tyr)	NC_000019.9:g.18899477C>T	VUS	1 lab	f94891eecd
13:111160289 COL4A2 G>A	13	111160289	111160289	G	A	COL4A2	c.4602G>A	NM_001846.4	NP_001837.2:p.(Ala1534=)	NC_000013.10:g.111160289G>A	(Likely) benign	1 lab	f9494efda9
19:46268790 SIX5 G>A	19	46268790	46268790	G	A	SIX5	c.2189C>T	NM_175875.5	NP_787071.3:p.(Ser730Leu)	NC_000019.9:g.46268790G>A	(Likely) benign	1 lab	f94aab2c64
5:32074682 PDZD2 C>T	5	32074682	32074682	C	T	PDZD2	c.3470C>T	NM_178140.4	NP_835260.2:p.(Ser1157Leu)	NC_000005.9:g.32074682C>T	(Likely) benign	1 lab	f94b0515ea
X:69942547 TEX11 C>T	X	69942547	69942547	C	T	TEX11	c.971-1G>A	NM_001003811.2	NP_001003811.1:p.?	NC_000023.10:g.69942547C>T	(Likely) pathogenic	1 lab	2ee927355f
7:3678679 SDK1 C>T	7	3678679	3678679	C	T	SDK1	c.502C>T	NM_152744.4	NP_689957.3:p.(Arg168Cys)	NC_000007.13:g.3678679C>T	VUS	1 lab	f94c683a79
15:66180094 RAB11A G>A	15	66180094	66180094	G	A	RAB11A	c.567G>A	NM_004663.5	NP_004654.1:p.(Met189Ile)	NC_000015.9:g.66180094G>A	(Likely) benign	1 lab	f94c93b8d2
14:73731048 PAPLN C>G	14	73731048	73731048	C	G	PAPLN	c.2986+5C>G	NM_001365906.3	NP_001352835.1:p.?	NC_000014.8:g.73731048C>G	(Likely) benign	1 lab	f94d296b34
10:101473728 COX15 CAA>C	10	101473728	101473745	CAA	C	COX15	c.*614_*615del	NM_078470.6	NP_510870.1:p.?	NC_000010.10:g.101473744_101473745del	(Likely) benign	1 lab	f94e23e2b0
3:160156705 TRIM59 T>G	3	160156705	160156705	T	G	TRIM59	c.267A>C	NM_173084.3	NP_775107.1:p.(Glu89Asp)	NC_000003.11:g.160156705T>G	VUS	1 lab	f9514c2bfa
7:65441205 GUSB G>A	7	65441205	65441205	G	A	GUSB	c.725-16C>T	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65441205G>A	(Likely) benign	1 lab	2eeade9be7
15:48548070 SLC12A1 G>A	15	48548070	48548070	G	A	SLC12A1	c.2005G>A	NM_000338.3	NP_000329.2:p.(Glu669Lys)	NC_000015.9:g.48548070G>A	VUS	1 lab	f953684f2a
20:45938955 ZMYND8 G>C	20	45938955	45938955	G	C	ZMYND8	c.86-7C>G	NM_001281775.3	NP_001268704.1:p.?	NC_000020.10:g.45938955G>C	(Likely) benign	1 lab	f95623fd51
5:14488227 TRIO C>T	5	14488227	14488227	C	T	TRIO	c.7490C>T	NM_007118.4	NP_009049.2:p.(Pro2497Leu)	NC_000005.9:g.14488227C>T	(Likely) benign	1 lab	f95654b0d4
8:144994136 PLEC T>A	8	144994136	144994136	T	A	PLEC	c.9853A>T	NM_201384.3	NP_958786.1:p.(Ile3285Phe)	NC_000008.10:g.144994136T>A	VUS	1 lab	f9566cb010
15:40763810 CHST14 A>C	15	40763810	40763810	A	C	CHST14	c.398A>C	NM_130468.4	NP_569735.1:p.(Gln133Pro)	NC_000015.9:g.40763810A>C	VUS	1 lab	f9569a3964
1:152286199 FLG T>TG	1	152286199	152286201	T	TG	FLG	c.1162dup	NM_002016.2	NP_002007.1:p.(His388ProfsTer31)	NC_000001.10:g.152286201dup	VUS	1 lab	f9575d79b0
1:154580480 ADAR C>A	1	154580480	154580480	C	A	ADAR	c.3G>T	NM_001111.5	NP_001102.3:p.(Met1?)	NC_000001.10:g.154580480C>A	VUS	1 lab	f958a337a0
12:122975106 ZCCHC8 T>C	12	122975106	122975106	T	C	ZCCHC8	c.326A>G	NM_017612.5	NP_060082.2:p.(His109Arg)	NC_000012.11:g.122975106T>C	VUS	1 lab	f958bdb70c
22:40080329 CACNA1I G>A	22	40080329	40080329	G	A	CACNA1I	c.5853G>A	NM_021096.4	NP_066919.2:p.(Pro1951=)	NC_000022.10:g.40080329G>A	(Likely) benign	1 lab	f95a804578
17:38457850 CDC6 G>A	17	38457850	38457850	G	A	CDC6	c.1583G>A	NM_001254.4	NP_001245.1:p.(Arg528His)	NC_000017.10:g.38457850G>A	(Likely) benign	1 lab	f95c0e1a0d
9:140713044 EHMT1 A>G	9	140713044	140713044	A	G	EHMT1	c.3540+454A>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140713044A>G	(Likely) benign	1 lab	f95c19dfa1
4:1801220 FGFR3 G>A	4	1801220	1801220	G	A	FGFR3	c.349G>A	NM_000142.5	NP_000133.1:p.(Val117Ile)	NC_000004.11:g.1801220G>A	VUS	1 lab	f95c38d6a5
12:90005004 ATP2B1 T>A	12	90005004	90005004	T	A	ATP2B1	c.2213A>T	NM_001366521.1	NP_001353450.1:p.(Asp738Val)	NC_000012.11:g.90005004T>A	VUS	1 lab	f95cf872c2
X:138857000 ATP11C G>A	X	138857000	138857000	G	A	ATP11C	c.2065C>T	NM_001353812.2	NP_001340741.2:p.(Arg689Cys)	NC_000023.10:g.138857000G>A	(Likely) benign	1 lab	f95d237e91
10:124273779 HTRA1 C>T	10	124273779	124273779	C	T	HTRA1	c.1347C>T	NM_002775.5	NP_002766.1:p.(Ser449=)	NC_000010.10:g.124273779C>T	(Likely) benign	1 lab	f9600f422c
20:57478607 GNAS G>A	20	57478607	57478607	G	A	GNAS	c.279G>A	NM_000516.7	NP_000507.1:p.(Gln93=)	NC_000020.10:g.57478607G>A	(Likely) benign	1 lab	f9610bdb06
X:36162895 CFAP47 A>G	X	36162895	36162895	A	G	CFAP47	c.5536-441A>G	NM_001304548.2	NP_001291477.1:p.?	NC_000023.10:g.36162895A>G	VUS	1 lab	f9634fe844
5:90101157 ADGRV1 C>T	5	90101157	90101157	C	T	ADGRV1	c.14718C>T	NM_032119.4	NP_115495.3:p.(His4906=)	NC_000005.9:g.90101157C>T	(Likely) benign	1 lab	f9637b0cf3
19:42866331 MEGF8 G>A	19	42866331	42866331	G	A	MEGF8	c.5810G>A	NM_001271938.2	NP_001258867.1:p.(Arg1937His)	NC_000019.9:g.42866331G>A	VUS	1 lab	f963909d96
2:242352768 FARP2 A>C	2	242352768	242352768	A	C	FARP2	c.555A>C	NM_014808.4	NP_055623.1:p.(Lys185Asn)	NC_000002.11:g.242352768A>C	(Likely) benign	1 lab	f963c94b73
19:21910271 ZNF100 T>C	19	21910271	21910271	T	C	ZNF100	c.843A>G	NM_173531.4	NP_775802.2:p.(Ile281Met)	NC_000019.9:g.21910271T>C	VUS	1 lab	f963ddaba3
15:34021189 RYR3 T>C	15	34021189	34021189	T	C	RYR3	c.7165T>C	NM_001036.6	NP_001027.3:p.(Phe2389Leu)	NC_000015.9:g.34021189T>C	VUS	1 lab	f963eb971a
17:40557307 CAVIN1 G>GCTCGCCCTCGCCCAGCTC	17	40557307	40557334	G	GCTCGCCCTCGCCCAGCTC	CAVIN1	c.553_570dup	NM_012232.6	NP_036364.2:p.(Glu185_Glu190dup)	NC_000017.10:g.40557317_40557334dup	(Likely) benign	1 lab	32d009e1db
9:127262707 NR5A1 C>T	9	127262707	127262707	C	T	NR5A1	c.532G>A	NM_004959.5	NP_004950.2:p.(Gly178Arg)	NC_000009.11:g.127262707C>T	VUS	1 lab	f967870261
19:9077544 MUC16 G>A	19	9077544	9077544	G	A	MUC16	c.10022C>T	NM_001401501.2	NP_001388430.1:p.(Pro3341Leu)	NC_000019.9:g.9077544G>A	(Likely) benign	1 lab	f96a9fade7
19:40744805 AKT2 G>A	19	40744805	40744805	G	A	AKT2	c.708+7C>T	NM_001626.6	NP_001617.1:p.?	NC_000019.9:g.40744805G>A	(Likely) benign	1 lab	f96af30dcb
3:53137965 RFT1 G>A	3	53137965	53137965	G	A	RFT1	c.1102+4C>T	NM_052859.4	NP_443091.1:p.?	NC_000003.11:g.53137965G>A	(Likely) benign	1 lab	f96c9d15a4
3:12434124 PPARG G>T	3	12434124	12434124	G	T	PPARG	c.402G>T	NM_138711.6	NP_619725.3:p.(Arg134=)	NC_000003.11:g.12434124G>T	(Likely) benign	1 lab	f96d1a27a7
20:60910124 LAMA5 T>G	20	60910124	60910124	T	G	LAMA5	c.2435A>C	NM_005560.6	NP_005551.3:p.(Lys812Thr)	NC_000020.10:g.60910124T>G	(Likely) benign	1 lab	f96d3bb451
7:6037052 PMS2 C>A	7	6037052	6037052	C	A	PMS2	c.708G>T	NM_000535.7	NP_000526.2:p.(Leu236Phe)	NC_000007.13:g.6037052C>A	(Likely) benign	1 lab	f96dff8673
7:42064935 GLI3 G>T	7	42064935	42064935	G	T	GLI3	c.1284C>A	NM_000168.6	NP_000159.3:p.(Asp428Glu)	NC_000007.13:g.42064935G>T	VUS	1 lab	f96e83f563
12:57441831 MYO1A C>T	12	57441831	57441831	C	T	MYO1A	c.172G>A	NM_005379.4	NP_005370.1:p.(Gly58Arg)	NC_000012.11:g.57441831C>T	VUS	1 lab	f96ec4b043
15:63986359 HERC1 A>G	15	63986359	63986359	A	G	HERC1	c.5481-3T>C	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63986359A>G	(Likely) benign	1 lab	f97050b56a
1:226054815 TMEM63A G>C	1	226054815	226054815	G	C	TMEM63A	c.563C>G	NM_014698.3	NP_055513.2:p.(Thr188Ser)	NC_000001.10:g.226054815G>C	VUS	1 lab	2eed4012c8
20:49508683 ADNP G>A	20	49508683	49508683	G	A	ADNP	c.2568C>T	NM_001282531.3	NP_001269460.1:p.(Val856=)	NC_000020.10:g.49508683G>A	(Likely) benign	1 lab	f970d397bd
18:179047 USP14 A>G	18	179047	179047	A	G	USP14	c.300+10A>G	NM_005151.4	NP_005142.1:p.?	NC_000018.9:g.179047A>G	(Likely) benign	1 lab	f97259b298
17:41277334 BRCA1 G>C	17	41277334	41277334	G	C	BRCA1	c.-66C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277334G>C	VUS	1 lab	f973d49fd2
21:35208777 ITSN1 G>A	21	35208777	35208777	G	A	ITSN1	c.3502G>A	NM_003024.3	NP_003015.2:p.(Ala1168Thr)	NC_000021.8:g.35208777G>A	VUS	1 lab	f975380f99
1:36557606 ADPRS C>T	1	36557606	36557606	C	T	ADPRS	c.612C>T	NM_017825.3	NP_060295.1:p.(Gly204=)	NC_000001.10:g.36557606C>T	VUS	1 lab	f977892511
1:42047846 HIVEP3 G>A	1	42047846	42047846	G	A	HIVEP3	c.2623C>T	NM_024503.5	NP_078779.2:p.(Pro875Ser)	NC_000001.10:g.42047846G>A	(Likely) benign	1 lab	f977a83ab8
15:85189578 WDR73 A>C	15	85189578	85189578	A	C	WDR73	c.354T>G	NM_032856.5	NP_116245.2:p.(Asp118Glu)	NC_000015.9:g.85189578A>C	VUS	1 lab	f97aa74d5f
X:107408102 COL4A6 C>G	X	107408102	107408102	C	G	COL4A6	c.3970+5G>C	NM_033641.4	NP_378667.1:p.?	NC_000023.10:g.107408102C>G	VUS	1 lab	f97acde9fb
6:7571619 DSP A>T	6	7571619	7571619	A	T	DSP	c.1705A>T	NM_004415.4	NP_004406.2:p.(Lys569Ter)	NC_000006.11:g.7571619A>T	(Likely) pathogenic	1 lab	2eee641fd4
X:144903987 SLITRK2 G>A	X	144903987	144903987	G	A	SLITRK2	c.44G>A	NM_032539.5	NP_115928.1:p.(Gly15Glu)	NC_000023.10:g.144903987G>A	VUS	1 lab	f97dac3877
12:22078992 ABCC9 C>T	12	22078992	22078992	C	T	ABCC9	c.290G>A	NM_020297.4	NP_064693.2:p.(Arg97Gln)	NC_000012.11:g.22078992C>T	(Likely) benign	1 lab	f97dc545dd
19:36398144 TYROBP G>A	19	36398144	36398144	G	A	TYROBP	c.252C>T	NM_003332.4	NP_003323.1:p.(Ile84=)	NC_000019.9:g.36398144G>A	(Likely) benign	1 lab	f97fb1aaf5
11:397636 PKP3 T>C	11	397636	397636	T	C	PKP3	c.1042T>C	NM_007183.4	NP_009114.1:p.(Tyr348His)	NC_000011.9:g.397636T>C	VUS	1 lab	f980af61b0
X:24080583 EIF2S3 A>G	X	24080583	24080583	A	G	EIF2S3	c.529A>G	NM_001415.4	NP_001406.1:p.(Ile177Val)	NC_000023.10:g.24080583A>G	VUS	1 lab	f98106ad6a
17:8379222 MYH10 C>T	17	8379222	8379222	C	T	MYH10	c.5924G>A	NM_001256012.3	NP_001242941.1:p.(Arg1975His)	NC_000017.10:g.8379222C>T	VUS	1 lab	f984251da4
7:44186110 GCK A>G	7	44186110	44186110	A	G	GCK	c.971T>C	NM_000162.5	NP_000153.1:p.(Leu324Pro)	NC_000007.13:g.44186110A>G	(Likely) pathogenic	1 lab	f98457546c
14:75475756 EIF2B2 C>T	14	75475756	75475756	C	T	EIF2B2	c.921C>T	NM_014239.4	NP_055054.1:p.(Ser307=)	NC_000014.8:g.75475756C>T	VUS	1 lab	f984ea127d
8:90958365 NBN T>G	8	90958365	90958365	T	G	NBN	c.2070+3A>C	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90958365T>G	(Likely) benign	1 lab	f9862816e5
15:37390352 MEIS2 C>T	15	37390352	37390352	C	T	MEIS2	c.61G>A	NM_170675.5	NP_733775.1:p.(Ala21Thr)	NC_000015.9:g.37390352C>T	(Likely) benign	1 lab	f9864ee4e6
19:7762157 FCER2 T>C	19	7762157	7762157	T	C	FCER2	c.281A>G	NM_001220500.2	NP_001207429.1:p.(Glu94Gly)	NC_000019.9:g.7762157T>C	(Likely) benign	1 lab	f98708bb7a
12:88523485 CEP290 G>A	12	88523485	88523485	G	A	CEP290	c.838C>T	NM_025114.4	NP_079390.3:p.(His280Tyr)	NC_000012.11:g.88523485G>A	VUS	1 lab	f98da6fc22
19:1047169 ABCA7 T>C	19	1047169	1047169	T	C	ABCA7	c.1859T>C	NM_019112.4	NP_061985.2:p.(Leu620Pro)	NC_000019.9:g.1047169T>C	VUS	1 lab	f98f348ee2
4:1962857 NSD2 C>G	4	1962857	1962857	C	G	NSD2	c.3351C>G	NM_001042424.3	NP_001035889.1:p.(Phe1117Leu)	NC_000004.11:g.1962857C>G	(Likely) benign	1 lab	f991750a40
10:73492050 CDH23 A>G	10	73492050	73492050	A	G	CDH23	c.4022A>G	NM_022124.6	NP_071407.4:p.(Asp1341Gly)	NC_000010.10:g.73492050A>G	(Likely) benign	1 lab	f991a9768b
3:184071110 CLCN2 G>A	3	184071110	184071110	G	A	CLCN2	c.1956C>T	NM_004366.6	NP_004357.3:p.(Arg652=)	NC_000003.11:g.184071110G>A	(Likely) benign	1 lab	f991c60f28
1:7740250 CAMTA1 G>A	1	7740250	7740250	G	A	CAMTA1	c.2914+2457G>A	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7740250G>A	VUS	1 lab	f992a49349
11:6129669 OR56B4 T>A	11	6129669	6129669	T	A	OR56B4	c.661T>A	NM_001005181.2	NP_001005181.1:p.(Phe221Ile)	NC_000011.9:g.6129669T>A	(Likely) benign	1 lab	f992dea391
9:14770699 FREM1 C>T	9	14770699	14770699	C	T	FREM1	c.4963G>A	NM_144966.5	NP_659403.4:p.(Val1655Met)	NC_000009.11:g.14770699C>T	(Likely) benign	1 lab	31ecc9c9be
1:22168828 HSPG2 A>G	1	22168828	22168828	A	G	HSPG2	c.8956T>C	NM_005529.7	NP_005520.4:p.(Ser2986Pro)	NC_000001.10:g.22168828A>G	(Likely) benign	1 lab	f994c07163
X:49126548 PPP1R3F T>TGGC	X	49126548	49126565	T	TGGC	PPP1R3F	c.231_233dup	NM_033215.5	NP_149992.3:p.(Gly78dup)	NC_000023.10:g.49126563_49126565dup	(Likely) benign	1 lab	f99599c466
1:151015816 BNIPL G>A	1	151015816	151015816	G	A	BNIPL	c.625G>A	NM_138278.4	NP_612122.2:p.(Gly209Ser)	NC_000001.10:g.151015816G>A	(Likely) benign	1 lab	f995d8bc44
19:18899329 COMP G>C	19	18899329	18899329	G	C	COMP	c.763-6C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899329G>C	VUS	1 lab	f995fae509
14:73753967 NUMB T>C	14	73753967	73753967	T	C	NUMB	c.506A>G	NM_001005743.2	NP_001005743.1:p.(Lys169Arg)	NC_000014.8:g.73753967T>C	VUS	1 lab	f998ee4dce
5:127636501 FBN2 A>G	5	127636501	127636501	A	G	FBN2	c.6166+8T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127636501A>G	(Likely) benign	1 lab	f99a956d18
5:121413218 LOX T>C	5	121413218	121413218	T	C	LOX	c.463A>G	NM_002317.7	NP_002308.2:p.(Ser155Gly)	NC_000005.9:g.121413218T>C	(Likely) benign	1 lab	f99b64c279
1:17609382 PADI3 GC>G	1	17609382	17609385	GC	G	PADI3	c.1806del	NM_016233.2	NP_057317.2:p.(Phe603LeufsTer88)	NC_000001.10:g.17609385del	VUS	1 lab	f99d4e80ac
13:77642693 MYCBP2 C>CA	13	77642693	77642694	C	CA	MYCBP2	c.12171+6dup	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77642694dup	(Likely) benign	1 lab	f99d60e95d
5:14508090 TRIO G>C	5	14508090	14508090	G	C	TRIO	c.8853G>C	NM_007118.4	NP_009049.2:p.(Gln2951His)	NC_000005.9:g.14508090G>C	(Likely) benign	1 lab	f99dbbbdfb
15:66995637 SMAD6 G>A	15	66995637	66995637	G	A	SMAD6	c.41G>A	NM_005585.5	NP_005576.3:p.(Trp14Ter)	NC_000015.9:g.66995637G>A	VUS	1 lab	f99f47a944
16:2164524 PKD1 C>T	16	2164524	2164524	C	T	PKD1	c.2500G>A	NM_001009944.3	NP_001009944.3:p.(Gly834Ser)	NC_000016.9:g.2164524C>T	VUS	1 lab	f9a0c41d4f
17:8380311 MYH10 T>G	17	8380311	8380311	T	G	MYH10	c.5762A>C	NM_001256012.3	NP_001242941.1:p.(Glu1921Ala)	NC_000017.10:g.8380311T>G	VUS	1 lab	f9a123d4b2
3:142089373 XRN1 T>A	3	142089373	142089373	T	A	XRN1	c.3158A>T	NM_001282857.2	NP_001269786.1:p.(Asp1053Val)	NC_000003.11:g.142089373T>A	VUS	1 lab	f9a162c2d6
9:139905440 ABCA2 A>G	9	139905440	139905440	A	G	ABCA2	c.6041T>C	NM_001606.5	NP_001597.2:p.(Phe2014Ser)	NC_000009.11:g.139905440A>G	VUS	1 lab	f9a2d82442
X:37701148 DYNLT3 C>T	X	37701148	37701148	C	T	DYNLT3	c.83G>A	NM_006520.3	NP_006511.1:p.(Gly28Glu)	NC_000023.10:g.37701148C>T	(Likely) benign	1 lab	f9a2f28bd7
1:197396584 CRB1 A>G	1	197396584	197396584	A	G	CRB1	c.2129A>G	NM_201253.3	NP_957705.1:p.(Glu710Gly)	NC_000001.10:g.197396584A>G	VUS	1 lab	f9a32727e6
9:140564649 EHMT1 T>G	9	140564649	140564649	T	G	EHMT1	c.22-40770T>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140564649T>G	(Likely) benign	1 lab	f9a32c153d
19:39440881 FBXO17 C>T	19	39440881	39440881	C	T	FBXO17	c.79G>A	NM_024907.7	NP_079183.4:p.(Val27Met)	NC_000019.9:g.39440881C>T	(Likely) benign	1 lab	f9a363dfd2
12:43822597 ADAMTS20 G>A	12	43822597	43822597	G	A	ADAMTS20	c.3495C>T	NM_025003.5	NP_079279.3:p.(Ser1165=)	NC_000012.11:g.43822597G>A	VUS	1 lab	f9a463d812
22:42606802 TCF20 C>A	22	42606802	42606802	C	A	TCF20	c.4510G>T	NM_001378418.1	NP_001365347.1:p.(Ala1504Ser)	NC_000022.10:g.42606802C>A	VUS	1 lab	f9a46d76bf
6:129774164 LAMA2 G>A	6	129774164	129774164	G	A	LAMA2	c.6461G>A	NM_000426.4	NP_000417.3:p.(Cys2154Tyr)	NC_000006.11:g.129774164G>A	VUS	1 lab	f9a4961553
3:183963594 ALG3 T>C	3	183963594	183963594	T	C	ALG3	c.203A>G	NM_005787.6	NP_005778.1:p.(Glu68Gly)	NC_000003.11:g.183963594T>C	VUS	1 lab	f9a694e5f5
11:2906457 CDKN1C G>A	11	2906457	2906457	G	A	CDKN1C	c.230C>T	NM_001122630.2	NP_001116102.1:p.(Pro77Leu)	NC_000011.9:g.2906457G>A	VUS	1 lab	f9a6b2dd03
1:55452046 TMEM61 C>T	1	55452046	55452046	C	T	TMEM61	c.292C>T	NM_182532.3	NP_872338.1:p.(Arg98Ter)	NC_000001.10:g.55452046C>T	VUS	1 lab	f9aae0585b
X:108926503 ACSL4 T>C	X	108926503	108926503	T	C	ACSL4	c.90A>G	NM_001318510.2	NP_001305439.1:p.(Ile30Met)	NC_000023.10:g.108926503T>C	(Likely) benign	1 lab	f9ac931286
17:61829374 CCDC47 G>A	17	61829374	61829374	G	A	CCDC47	c.1297C>T	NM_020198.3	NP_064583.2:p.(Arg433Trp)	NC_000017.10:g.61829374G>A	VUS	1 lab	f9af26eb1a
22:21341829 LZTR1 C>G	22	21341829	21341829	C	G	LZTR1	c.357C>G	NM_006767.4	NP_006758.2:p.(Tyr119Ter)	NC_000022.10:g.21341829C>G	VUS	1 lab	f9afa31c76
5:67588917 PIK3R1 TTTTCA>T	5	67588917	67588927	TTTTCA	T	PIK3R1	c.1020-6_1020-2del	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67588923_67588927del	VUS	1 lab	f9b067abf7
1:8425908 RERE C>T	1	8425908	8425908	C	T	RERE	c.1411G>A	NM_001042681.2	NP_001036146.1:p.(Val471Ile)	NC_000001.10:g.8425908C>T	(Likely) benign	1 lab	f9b12961c0
17:42988715 GFAP T>C	17	42988715	42988715	T	C	GFAP	c.1016A>G	NM_002055.5	NP_002046.1:p.(Lys339Arg)	NC_000017.10:g.42988715T>C	(Likely) benign	1 lab	f9b14351ce
1:154842121 KCNN3 G>A	1	154842121	154842121	G	A	KCNN3	c.320C>T	NM_002249.6	NP_002240.3:p.(Ala107Val)	NC_000001.10:g.154842121G>A	(Likely) benign	1 lab	f9b216edb7
8:100871603 VPS13B G>A	8	100871603	100871603	G	A	VPS13B	c.10939G>A	NM_152564.5	NP_689777.3:p.(Ala3647Thr)	NC_000008.10:g.100871603G>A	VUS	1 lab	f9b2e4acf1
17:29490390 NF1 A>G	17	29490390	29490390	A	G	NF1	c.475A>G	NM_001042492.3	NP_001035957.1:p.(Thr159Ala)	NC_000017.10:g.29490390A>G	(Likely) benign	1 lab	f9b369f35d
8:144899300 PUF60 C>T	8	144899300	144899300	C	T	PUF60	c.1160G>A	NM_078480.3	NP_510965.1:p.(Arg387His)	NC_000008.10:g.144899300C>T	(Likely) benign	1 lab	f9b3950de3
7:107564431 LAMB1 T>TTA	7	107564431	107564436	T	TTA	LAMB1	c.5324_5325dup	NM_002291.3	NP_002282.2:p.(Ser1776Ter)	NC_000007.13:g.107564435_107564436dup	VUS	1 lab	f9b474e050
11:66281892 BBS1 C>G	11	66281892	66281892	C	G	BBS1	c.175C>G	NM_024649.5	NP_078925.3:p.(Leu59Val)	NC_000011.9:g.66281892C>G	VUS	1 lab	f9b9eb3c9e
12:101988859 MYBPC1 C>T	12	101988859	101988859	C	T	MYBPC1	c.11C>T	NM_002465.4	NP_002456.2:p.(Pro4Leu)	NC_000012.11:g.101988859C>T	VUS	1 lab	f9badf4c52
3:12447550 PPARG G>A	3	12447550	12447550	G	A	PPARG	c.699G>A	NM_138711.6	NP_619725.3:p.(Ala233=)	NC_000003.11:g.12447550G>A	(Likely) benign	1 lab	f9bb73bc4d
3:78656017 ROBO1 C>T	3	78656017	78656017	C	T	ROBO1	c.4610G>A	NM_002941.4	NP_002932.1:p.(Gly1537Glu)	NC_000003.11:g.78656017C>T	(Likely) benign	1 lab	f9bd840101
21:47552187 COL6A2 C>G	21	47552187	47552187	C	G	COL6A2	c.2781C>G	NM_001849.4	NP_001840.3:p.(Ala927=)	NC_000021.8:g.47552187C>G	(Likely) benign	1 lab	f9be9a2185
Y:14870488 USP9Y G>A	Y	14870488	14870488	G	A	USP9Y	c.1682G>A	NM_004654.4	NP_004645.2:p.(Arg561His)	NC_000024.9:g.14870488G>A	VUS	1 lab	f9bee5a589
19:39023384 RYR1 G>A	19	39023384	39023384	G	A	RYR1	c.11259+8G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39023384G>A	(Likely) benign	1 lab	f9bf181ee7
12:29670512 TMTC1 T>G	12	29670512	29670512	T	G	TMTC1	c.2025-8A>C	NM_001193451.2	NP_001180380.1:p.?	NC_000012.11:g.29670512T>G	(Likely) benign	1 lab	f9c0277ef3
1:92709824 C1orf146 G>C	1	92709824	92709824	G	C	C1orf146	c.211G>C	NM_001012425.2	NP_001012425.1:p.(Glu71Gln)	NC_000001.10:g.92709824G>C	(Likely) benign	1 lab	f9c0ddd517
2:160087296 TANC1 G>A	2	160087296	160087296	G	A	TANC1	c.5359G>A	NM_033394.3	NP_203752.2:p.(Val1787Ile)	NC_000002.11:g.160087296G>A	VUS	1 lab	f9c3314cfe
3:74570235 CNTN3 A>G	3	74570235	74570235	A	G	CNTN3	c.29T>C	NM_020872.3	NP_065923.1:p.(Leu10Pro)	NC_000003.11:g.74570235A>G	VUS	1 lab	f9c353f5b0
18:43523997 EPG5 T>C	18	43523997	43523997	T	C	EPG5	c.1766A>G	NM_020964.3	NP_066015.2:p.(Gln589Arg)	NC_000018.9:g.43523997T>C	(Likely) benign	1 lab	f9c4d40e00
6:132129408 ENPP1 T>C	6	132129408	132129408	T	C	ENPP1	c.233T>C	NM_006208.3	NP_006199.2:p.(Leu78Pro)	NC_000006.11:g.132129408T>C	VUS	1 lab	f9c5469d05
2:152398045 NEB G>C	2	152398045	152398045	G	C	NEB	c.20598C>G	NM_001164508.2	NP_001157980.2:p.(Gly6866=)	NC_000002.11:g.152398045G>C	(Likely) benign	1 lab	f9c73dcd90
15:59487752 MYO1E G>C	15	59487752	59487752	G	C	MYO1E	c.1713C>G	NM_004998.3	NP_004989.2:p.(Asp571Glu)	NC_000015.9:g.59487752G>C	VUS	1 lab	354124cf8b
X:70598297 TAF1 G>T	X	70598297	70598297	G	T	TAF1	c.1146G>T	NM_004606.5	NP_004597.3:p.(Met382Ile)	NC_000023.10:g.70598297G>T	VUS	1 lab	f9df31ce8a
7:128116838 METTL2B G>A	7	128116838	128116838	G	A	METTL2B	c.19G>A	NM_018396.3	NP_060866.2:p.(Glu7Lys)	NC_000007.13:g.128116838G>A	(Likely) benign	1 lab	f9c7fda07d
17:27829696 TAOK1 C>G	17	27829696	27829696	C	G	TAOK1	c.1293C>G	NM_020791.4	NP_065842.1:p.(His431Gln)	NC_000017.10:g.27829696C>G	VUS	1 lab	f9c8911a8e
10:75830736 VCL C>T	10	75830736	75830736	C	T	VCL	c.394C>T	NM_014000.3	NP_054706.1:p.(Arg132Cys)	NC_000010.10:g.75830736C>T	VUS	1 lab	d9c11df464
16:88786653 PIEZO1 T>C	16	88786653	88786653	T	C	PIEZO1	c.5988A>G	NM_001142864.4	NP_001136336.2:p.(Ser1996=)	NC_000016.9:g.88786653T>C	VUS	1 lab	f9ca65ac16
9:136330567 CACFD1 C>T	9	136330567	136330567	C	T	CACFD1	c.318C>T	NM_017586.5	NP_060056.1:p.(Cys106=)	NC_000009.11:g.136330567C>T	VUS	1 lab	f9ca7f15ed
2:241533340 CAPN10 G>C	2	241533340	241533340	G	C	CAPN10	c.706G>C	NM_023083.4	NP_075571.2:p.(Glu236Gln)	NC_000002.11:g.241533340G>C	VUS	1 lab	f9cc37e8ed
5:36114629 LMBRD2 G>A	5	36114629	36114629	G	A	LMBRD2	c.1543-6C>T	NM_001007527.2	NP_001007528.1:p.?	NC_000005.9:g.36114629G>A	VUS	1 lab	f9cd5b587f
17:62041189 SCN4A T>C	17	62041189	62041189	T	C	SCN4A	c.1453-4A>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62041189T>C	(Likely) benign	1 lab	f9cf6d8f8e
1:145536012 ITGA10 G>A	1	145536012	145536012	G	A	ITGA10	c.2104G>A	NM_003637.5	NP_003628.2:p.(Ala702Thr)	NC_000001.10:g.145536012G>A	(Likely) benign	1 lab	f9cf8ac080
12:49434945 KMT2D G>A	12	49434945	49434945	G	A	KMT2D	c.6608C>T	NM_003482.4	NP_003473.3:p.(Thr2203Met)	NC_000012.11:g.49434945G>A	(Likely) benign	1 lab	f9d0a000d0
8:94821359 TMEM67 G>A	8	94821359	94821359	G	A	TMEM67	c.2631G>A	NM_153704.6	NP_714915.3:p.(Met877Ile)	NC_000008.10:g.94821359G>A	VUS	1 lab	f9d110c6f2
2:39222345 SOS1 G>A	2	39222345	39222345	G	A	SOS1	c.3265C>T	NM_005633.4	NP_005624.2:p.(Pro1089Ser)	NC_000002.11:g.39222345G>A	VUS	1 lab	f9d268fbba
21:45172466 PDXK C>T	21	45172466	45172466	C	T	PDXK	c.578C>T	NM_003681.5	NP_003672.1:p.(Pro193Leu)	NC_000021.8:g.45172466C>T	(Likely) benign	1 lab	f9d30568a1
2:223161694 PAX3 C>T	2	223161694	223161694	C	T	PAX3	c.321+3G>A	NM_181458.4	NP_852123.1:p.?	NC_000002.11:g.223161694C>T	(Likely) benign	1 lab	f9d5cf7dbd
1:224606916 WDR26 A>T	1	224606916	224606916	A	T	WDR26	c.1162+304T>A	NM_001379403.1	NP_001366332.1:p.?	NC_000001.10:g.224606916A>T	(Likely) benign	1 lab	f9d741bdfd
12:51108272 DIP2B C>T	12	51108272	51108272	C	T	DIP2B	c.2744C>T	NM_173602.3	NP_775873.2:p.(Ser915Phe)	NC_000012.11:g.51108272C>T	VUS	1 lab	f9d769ac0a
2:241723537 KIF1A C>T	2	241723537	241723537	C	T	KIF1A	c.721-304G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241723537C>T	VUS	1 lab	f9d7a2160b
15:48779604 FBN1 A>T	15	48779604	48779604	A	T	FBN1	c.3368T>A	NM_000138.5	NP_000129.3:p.(Leu1123Gln)	NC_000015.9:g.48779604A>T	VUS	1 lab	f9d85344ef
17:10322238 MYH8 T>C	17	10322238	10322238	T	C	MYH8	c.320A>G	NM_002472.3	NP_002463.2:p.(Asn107Ser)	NC_000017.10:g.10322238T>C	VUS	1 lab	f9dbb250f5
5:60628540 ZSWIM6 GGGCGGCGGC>G	5	60628540	60628561	GGGCGGCGGC	G	ZSWIM6	c.454_462del	NM_020928.2	NP_065979.1:p.(Gly152_Gly154del)	NC_000005.9:g.60628553_60628561del	VUS	1 lab	f9dbd696c3
4:57797265 REST A>G	4	57797265	57797265	A	G	REST	c.2241A>G	NM_005612.5	NP_005603.3:p.(Ile747Met)	NC_000004.11:g.57797265A>G	VUS	1 lab	f9dc2f2b04
1:74835106 TNNI3K G>A	1	74835106	74835106	G	A	TNNI3K	c.1504G>A	NM_015978.3	NP_057062.1:p.(Asp502Asn)	NC_000001.10:g.74835106G>A	VUS	1 lab	f9de326641
17:76487555 DNAH17 C>G	17	76487555	76487555	C	G	DNAH17	c.6639G>C	NM_173628.4	NP_775899.3:p.(Glu2213Asp)	NC_000017.10:g.76487555C>G	VUS	1 lab	f9e016e52c
16:15112742 PDXDC1 C>T	16	15112742	15112742	C	T	PDXDC1	c.1009C>T	NM_015027.4	NP_055842.2:p.(Arg337Cys)	NC_000016.9:g.15112742C>T	VUS	1 lab	f9e06fab4e
11:2415350 CD81 C>T	11	2415350	2415350	C	T	CD81	c.207C>T	NM_004356.4	NP_004347.1:p.(Gly69=)	NC_000011.9:g.2415350C>T	(Likely) benign	1 lab	d9c44da99a
8:110424545 PKHD1L1 C>T	8	110424545	110424545	C	T	PKHD1L1	c.2137C>T	NM_177531.6	NP_803875.2:p.(Arg713Cys)	NC_000008.10:g.110424545C>T	(Likely) benign	1 lab	f9e56dff2c
16:19278298 SYT17 G>A	16	19278298	19278298	G	A	SYT17	c.1325G>A	NM_016524.4	NP_057608.2:p.(Arg442His)	NC_000016.9:g.19278298G>A	VUS	1 lab	f9e5ed5a49
19:10445805 ICAM3 T>C	19	10445805	10445805	T	C	ICAM3	c.874A>G	NM_002162.5	NP_002153.2:p.(Ile292Val)	NC_000019.9:g.10445805T>C	(Likely) benign	1 lab	f9e8a9699e
14:21859784 CHD8 C>G	14	21859784	21859784	C	G	CHD8	c.6903G>C	NM_001170629.2	NP_001164100.1:p.(Met2301Ile)	NC_000014.8:g.21859784C>G	VUS	1 lab	f9e90db897
17:34951481 DHRS11 C>T	17	34951481	34951481	C	T	DHRS11	c.228C>T	NM_024308.4	NP_077284.2:p.(Asp76=)	NC_000017.10:g.34951481C>T	(Likely) benign	1 lab	f9e99066cb
16:53671648 RPGRIP1L G>A	16	53671648	53671648	G	A	RPGRIP1L	c.3179C>T	NM_015272.5	NP_056087.2:p.(Ser1060Phe)	NC_000016.9:g.53671648G>A	VUS	1 lab	f9eb541884
17:29459386 NF1 C>T	17	29459386	29459386	C	T	NF1	c.61-23615C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29459386C>T	(Likely) benign	1 lab	f9ec637195
12:417120 KDM5A G>C	12	417120	417120	G	C	KDM5A	c.3430C>G	NM_001042603.3	NP_001036068.1:p.(Leu1144Val)	NC_000012.11:g.417120G>C	VUS	1 lab	f9ecac9663
19:17081843 CPAMD8 C>T	19	17081843	17081843	C	T	CPAMD8	c.2071G>A	NM_015692.5	NP_056507.3:p.(Glu691Lys)	NC_000019.9:g.17081843C>T	VUS	1 lab	f9f0bbbb59
2:88890527 EIF2AK3 C>G	2	88890527	88890527	C	G	EIF2AK3	c.811G>C	NM_004836.7	NP_004827.4:p.(Asp271His)	NC_000002.11:g.88890527C>G	VUS	1 lab	f9f36e9115
18:56010248 NEDD4L G>C	18	56010248	56010248	G	C	NEDD4L	c.1488G>C	NM_001144967.3	NP_001138439.1:p.(Gln496His)	NC_000018.9:g.56010248G>C	VUS	1 lab	f9f5c25a7d
6:143074429 HIVEP2 G>A	6	143074429	143074429	G	A	HIVEP2	c.7156C>T	NM_006734.4	NP_006725.3:p.(His2386Tyr)	NC_000006.11:g.143074429G>A	VUS	1 lab	f9f5c3c0ad
11:65838058 PACS1 C>CGCAGCA	11	65838058	65838078	C	CGCAGCA	PACS1	c.116_121dup	NM_018026.4	NP_060496.2:p.(Gln39_Gln40dup)	NC_000011.9:g.65838073_65838078dup	(Likely) benign	1 lab	f9f68afb35
8:94798484 TMEM67 G>A	8	94798484	94798484	G	A	TMEM67	c.1322G>A	NM_153704.6	NP_714915.3:p.(Arg441His)	NC_000008.10:g.94798484G>A	VUS	1 lab	f9f967ee44
17:3438944 TRPV3 G>A	17	3438944	3438944	G	A	TRPV3	c.707C>T	NM_145068.4	NP_659505.1:p.(Ala236Val)	NC_000017.10:g.3438944G>A	(Likely) benign	1 lab	f9f9f36e1b
2:20205936 MATN3 G>A	2	20205936	20205936	G	A	MATN3	c.359C>T	NM_002381.5	NP_002372.1:p.(Thr120Met)	NC_000002.11:g.20205936G>A	(Likely) pathogenic	1 lab	f9fbd41b7d
14:74975542 LTBP2 C>T	14	74975542	74975542	C	T	LTBP2	c.3517G>A	NM_000428.3	NP_000419.1:p.(Val1173Met)	NC_000014.8:g.74975542C>T	VUS	1 lab	f9fc3cc049
19:39015985 RYR1 A>AT	19	39015985	39015986	A	AT	RYR1	c.10469_10470insT	NM_000540.3	NP_000531.2:p.(Gln3491ProfsTer57)	NC_000019.9:g.39015985_39015986insT	VUS	1 lab	f9fe216d3e
2:29063341 SPDYA A>G	2	29063341	29063341	A	G	SPDYA	c.850+6A>G	NM_182756.4	NP_877433.2:p.?	NC_000002.11:g.29063341A>G	VUS	1 lab	fa0a441cd3
2:54895585 SPTBN1 G>A	2	54895585	54895585	G	A	SPTBN1	c.6974G>A	NM_003128.3	NP_003119.2:p.(Arg2325His)	NC_000002.11:g.54895585G>A	(Likely) benign	1 lab	f9feb0debd
20:49236546 RIPOR3 G>A	20	49236546	49236546	G	A	RIPOR3	c.246C>T	NM_001290268.2	NP_001277197.1:p.(Phe82=)	NC_000020.10:g.49236546G>A	VUS	1 lab	f9feee1f2e
4:1808543 FGFR3 G>A	4	1808543	1808543	G	A	FGFR3	c.2169-13G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808543G>A	(Likely) benign	1 lab	f9ff7be825
19:13409633 CACNA1A G>GC	19	13409633	13409639	G	GC	CACNA1A	c.2813dup	NM_001127222.2	NP_001120694.1:p.(Ser939GlnfsTer128)	NC_000019.9:g.13409639dup	(Likely) pathogenic	1 lab	fa01bb8029
22:46859727 CELSR1 C>T	22	46859727	46859727	C	T	CELSR1	c.4060G>A	NM_001378328.1	NP_001365257.1:p.(Gly1354Ser)	NC_000022.10:g.46859727C>T	(Likely) benign	1 lab	fa028cc2c8
9:35792703 NPR2 G>C	9	35792703	35792703	G	C	NPR2	c.298G>C	NM_003995.4	NP_003986.2:p.(Gly100Arg)	NC_000009.11:g.35792703G>C	VUS	1 lab	fa030204d6
1:33778108 A3GALT2 C>T	1	33778108	33778108	C	T	A3GALT2	c.191G>A	NM_001080438.1	NP_001073907.1:p.(Arg64His)	NC_000001.10:g.33778108C>T	(Likely) benign	1 lab	fa05009265
2:31599904 XDH G>T	2	31599904	31599904	G	T	XDH	c.1427+15C>A	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31599904G>T	(Likely) benign	1 lab	31feb01bcd
6:129723587 LAMA2 A>G	6	129723587	129723587	A	G	LAMA2	c.5681A>G	NM_000426.4	NP_000417.3:p.(Glu1894Gly)	NC_000006.11:g.129723587A>G	VUS	1 lab	fa05f08ac1
22:23653988 BCR C>G	22	23653988	23653988	C	G	BCR	c.3287C>G	NM_004327.4	NP_004318.3:p.(Thr1096Arg)	NC_000022.10:g.23653988C>G	VUS	1 lab	fa065146ff
2:219735741 WNT6 C>T	2	219735741	219735741	C	T	WNT6	c.81-8C>T	NM_006522.4	NP_006513.1:p.?	NC_000002.11:g.219735741C>T	(Likely) benign	1 lab	fa06b25af2
12:6085321 VWF C>T	12	6085321	6085321	C	T	VWF	c.7393G>A	NM_000552.5	NP_000543.3:p.(Val2465Met)	NC_000012.11:g.6085321C>T	VUS	1 lab	fa06fcde99
14:92949111 SLC24A4 G>A	14	92949111	92949111	G	A	SLC24A4	c.1343G>A	NM_153646.4	NP_705932.2:p.(Arg448His)	NC_000014.8:g.92949111G>A	VUS	1 lab	fa07096da1
5:56178576 MAP3K1 TGAA>T	5	56178576	56178589	TGAA	T	MAP3K1	c.3560_3562del	NM_005921.2	NP_005912.1:p.(Glu1187del)	NC_000005.9:g.56178587_56178589del	VUS	1 lab	fa0761f785
11:119170316 CBL C>A	11	119170316	119170316	C	A	CBL	c.2546C>A	NM_005188.4	NP_005179.2:p.(Ser849Tyr)	NC_000011.9:g.119170316C>A	(Likely) benign	1 lab	fa0802bac0
3:46939680 PTH1R C>T	3	46939680	46939680	C	T	PTH1R	c.541C>T	NM_000316.3	NP_000307.1:p.(Arg181Trp)	NC_000003.11:g.46939680C>T	VUS	1 lab	fa09616405
21:39671712 KCNJ15 A>G	21	39671712	39671712	A	G	KCNJ15	c.529A>G	NM_170736.3	NP_733932.1:p.(Thr177Ala)	NC_000021.8:g.39671712A>G	VUS	1 lab	fa0a6d6fba
12:25362826 KRAS T>C	12	25362826	25362826	T	C	KRAS	c.470A>G	NM_004985.5	NP_004976.2:p.(Tyr157Cys)	NC_000012.11:g.25362826T>C	VUS	1 lab	fa0a805c6a
X:153038858 PLXNB3 G>A	X	153038858	153038858	G	A	PLXNB3	c.3080G>A	NM_005393.3	NP_005384.2:p.(Arg1027Gln)	NC_000023.10:g.153038858G>A	(Likely) benign	1 lab	fa0b8c5cf4
6:3082896 RIPK1 TGTA>T	6	3082896	3082902	TGTA	T	RIPK1	c.460-419_460-417del	NM_001354930.2	NP_001341859.1:p.?	NC_000006.11:g.3082900_3082902del	(Likely) benign	1 lab	fa0c33e2e4
18:10697816 PIEZO2 C>T	18	10697816	10697816	C	T	PIEZO2	c.6757G>A	NM_001378183.1	NP_001365112.1:p.(Gly2253Ser)	NC_000018.9:g.10697816C>T	VUS	1 lab	fa0dc8e154
4:15709200 BST1 C>G	4	15709200	15709200	C	G	BST1	c.382C>G	NM_004334.3	NP_004325.2:p.(Pro128Ala)	NC_000004.11:g.15709200C>G	(Likely) benign	1 lab	fa0e8fa186
11:64427978 NRXN2 T>C	11	64427978	64427978	T	C	NRXN2	c.2215A>G	NM_015080.4	NP_055895.1:p.(Met739Val)	NC_000011.9:g.64427978T>C	VUS	1 lab	fa0e9b3ebc
4:1806176 FGFR3 C>T	4	1806176	1806176	C	T	FGFR3	c.1195C>T	NM_000142.5	NP_000133.1:p.(Arg399Cys)	NC_000004.11:g.1806176C>T	VUS	1 lab	fa11e084be
X:138825749 ATP11C A>G	X	138825749	138825749	A	G	ATP11C	c.2999T>C	NM_001353812.2	NP_001340741.2:p.(Phe1000Ser)	NC_000023.10:g.138825749A>G	VUS	1 lab	fa12e97673
22:50303625 ALG12 A>T	22	50303625	50303625	A	T	ALG12	c.581T>A	NM_024105.4	NP_077010.1:p.(Leu194Gln)	NC_000022.10:g.50303625A>T	VUS	1 lab	fa13e61a19
14:81563056 TSHR G>A	14	81563056	81563056	G	A	TSHR	c.614+5G>A	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81563056G>A	VUS	1 lab	fa14c69c67
5:14488378 TRIO G>A	5	14488378	14488378	G	A	TRIO	c.7632+9G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14488378G>A	(Likely) benign	1 lab	fa15c184e6
12:121622562 P2RX7 C>T	12	121622562	121622562	C	T	P2RX7	c.1745C>T	NM_002562.6	NP_002553.3:p.(Pro582Leu)	NC_000012.11:g.121622562C>T	VUS	1 lab	fa15ca4f9f
9:26905939 PLAA G>A	9	26905939	26905939	G	A	PLAA	c.1958C>T	NM_001031689.3	NP_001026859.1:p.(Pro653Leu)	NC_000009.11:g.26905939G>A	VUS	1 lab	fa15de6fa7
11:118342490 KMT2A T>C	11	118342490	118342490	T	C	KMT2A	c.616T>C	NM_001197104.2	NP_001184033.1:p.(Ser206Pro)	NC_000011.9:g.118342490T>C	(Likely) benign	1 lab	fa168396d7
11:674526 DEAF1 C>T	11	674526	674526	C	T	DEAF1	c.1503+10G>A	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.674526C>T	(Likely) benign	1 lab	fa177554d7
1:162731116 DDR2 T>C	1	162731116	162731116	T	C	DDR2	c.971T>C	NM_006182.4	NP_006173.2:p.(Leu324Pro)	NC_000001.10:g.162731116T>C	VUS	1 lab	fa19073a49
19:47570821 ZC3H4 C>G	19	47570821	47570821	C	G	ZC3H4	c.2704G>C	NM_015168.2	NP_055983.1:p.(Glu902Gln)	NC_000019.9:g.47570821C>G	VUS	1 lab	fa19d96fce
14:93684870 UBR7 C>G	14	93684870	93684870	C	G	UBR7	c.602-3C>G	NM_175748.4	NP_786924.2:p.?	NC_000014.8:g.93684870C>G	VUS	1 lab	fa1aa4541c
18:32707057 MAPRE2 G>GCAT	18	32707057	32707062	G	GCAT	MAPRE2	c.750+9_750+11dup	NM_014268.4	NP_055083.1:p.?	NC_000018.9:g.32707060_32707062dup	(Likely) benign	1 lab	fa1b782610
17:10299924 MYH8 C>T	17	10299924	10299924	C	T	MYH8	c.4474G>A	NM_002472.3	NP_002463.2:p.(Glu1492Lys)	NC_000017.10:g.10299924C>T	VUS	1 lab	fa1bdce4e0
1:214556751 PTPN14 A>G	1	214556751	214556751	A	G	PTPN14	c.2447T>C	NM_005401.5	NP_005392.2:p.(Val816Ala)	NC_000001.10:g.214556751A>G	(Likely) benign	1 lab	fa1cce307b
5:177031385 B4GALT7 G>C	5	177031385	177031385	G	C	B4GALT7	c.256G>C	NM_007255.3	NP_009186.1:p.(Glu86Gln)	NC_000005.9:g.177031385G>C	VUS	1 lab	fa1ce46a33
12:94805627 CEP83 GT>G	12	94805627	94805635	GT	G	CEP83	c.174-5del	NM_016122.3	NP_057206.2:p.?	NC_000012.11:g.94805635del	(Likely) benign	1 lab	fa1d50a5e8
16:1501614 CLCN7 CCA>C	16	1501614	1501623	CCA	C	CLCN7	c.1447+8_1447+9del	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1501622_1501623del	(Likely) benign	1 lab	fa1dd88a55
3:180334342 CCDC39 T>C	3	180334342	180334342	T	C	CCDC39	c.2548A>G	NM_181426.2	NP_852091.1:p.(Thr850Ala)	NC_000003.11:g.180334342T>C	(Likely) benign	1 lab	fa29cfe2fb
3:9486880 SETD5 C>T	3	9486880	9486880	C	T	SETD5	c.1336C>T	NM_001080517.3	NP_001073986.1:p.(Arg446Trp)	NC_000003.11:g.9486880C>T	(Likely) benign	1 lab	fa1e5603cd
1:16256348 SPEN C>T	1	16256348	16256348	C	T	SPEN	c.3613C>T	NM_015001.3	NP_055816.2:p.(Arg1205Cys)	NC_000001.10:g.16256348C>T	VUS	1 lab	fa1ee8c9db
1:244217759 ZBTB18 CAG>C	1	244217759	244217763	CAG	C	ZBTB18	c.686_687del	NM_205768.3	NP_991331.1:p.(Glu229ValfsTer17)	NC_000001.10:g.244217762_244217763del	VUS	1 lab	fa205f3ce2
X:69902613 TEX11 A>G	X	69902613	69902613	A	G	TEX11	c.1067T>C	NM_031276.3	NP_112566.2:p.(Ile356Thr)	NC_000023.10:g.69902613A>G	(Likely) benign	1 lab	fa2108b192
16:3789635 CREBBP G>A	16	3789635	3789635	G	A	CREBBP	c.4224C>T	NM_004380.3	NP_004371.2:p.(Cys1408=)	NC_000016.9:g.3789635G>A	(Likely) benign	1 lab	31ffba2f44
X:135313739 MAP7D3 T>TTCCATGCTTGCTTCAAGGGATGTCTTGGGGGATGCTTTCACCATCGCCCCAGGAGATGCC	X	135313739	135313788	T	TTCCATGCTTGCTTCAAGGGATGTCTTGGGGGATGCTTTCACCATCGCCCCAGGAGATGCC	MAP7D3	c.1376_1377insGGCATCTCCTGGGGCGATGGTGAAAGCATCCCCCAAGACATCCCTTGAAGCAAGCATGGA	NM_024597.4	NP_078873.2:p.(Pro462_Lys463insGlyAlaMetValLysAlaSerProLysThrSerLeuGluAlaSerMetGluAlaSerPro)	NC_000023.10:g.135313787_135313788insCCAGGAGATGCCTCCATGCTTGCTTCAAGGGATGTCTTGGGGGATGCTTTCACCATCGCC	(Likely) benign	1 lab	fa231b45c7
4:106196834 TET2 C>T	4	106196834	106196834	C	T	TET2	c.5167C>T	NM_001127208.3	NP_001120680.1:p.(Pro1723Ser)	NC_000004.11:g.106196834C>T	(Likely) benign	1 lab	fa2417d74d
16:735581 WDR24 G>A	16	735581	735581	G	A	WDR24	c.1695C>T	NM_032259.4	NP_115635.1:p.(Cys565=)	NC_000016.9:g.735581G>A	VUS	1 lab	fa246c5435
4:155254051 DCHS2 C>T	4	155254051	155254051	C	T	DCHS2	c.3309G>A	NM_001358235.2	NP_001345164.1:p.(Met1103Ile)	NC_000004.11:g.155254051C>T	VUS	1 lab	fa259b95a0
20:3214923 SLC4A11 G>A	20	3214923	3214923	G	A	SLC4A11	c.329C>T	NM_001174089.2	NP_001167560.1:p.(Ala110Val)	NC_000020.10:g.3214923G>A	VUS	1 lab	fa2adc1e63
19:1469851 APC2 G>C	19	1469851	1469851	G	C	APC2	c.6551G>C	NM_005883.3	NP_005874.1:p.(Arg2184Pro)	NC_000019.9:g.1469851G>C	VUS	1 lab	fa4afa5bf0
15:89398339 ACAN G>A	15	89398339	89398339	G	A	ACAN	c.2523G>A	NM_001369268.1	NP_001356197.1:p.(Pro841=)	NC_000015.9:g.89398339G>A	(Likely) benign	1 lab	fa2c377575
7:103338371 RELN C>T	7	103338371	103338371	C	T	RELN	c.1072G>A	NM_005045.4	NP_005036.2:p.(Val358Ile)	NC_000007.13:g.103338371C>T	VUS	1 lab	fa2d6fc1d9
20:34828250 AAR2 C>G	20	34828250	34828250	C	G	AAR2	c.460C>G	NM_001271874.2	NP_001258803.1:p.(Gln154Glu)	NC_000020.10:g.34828250C>G	(Likely) benign	1 lab	fa2deb8e6f
17:65928060 BPTF A>C	17	65928060	65928060	A	C	BPTF	c.6184A>C	NM_182641.4	NP_872579.2:p.(Thr2062Pro)	NC_000017.10:g.65928060A>C	(Likely) benign	1 lab	fa2e07604a
15:75668171 SIN3A C>A	15	75668171	75668171	C	A	SIN3A	c.3426G>T	NM_001145358.2	NP_001138830.1:p.(Gln1142His)	NC_000015.9:g.75668171C>A	(Likely) benign	1 lab	fa2fe9955b
3:133191276 BFSP2 G>A	3	133191276	133191276	G	A	BFSP2	c.1111G>A	NM_003571.4	NP_003562.1:p.(Glu371Lys)	NC_000003.11:g.133191276G>A	VUS	1 lab	fa30145cc8
11:94192594 MRE11 C>T	11	94192594	94192594	C	T	MRE11	c.1480G>A	NM_005591.4	NP_005582.1:p.(Glu494Lys)	NC_000011.9:g.94192594C>T	VUS	1 lab	fa3023d951
6:117244270 RFX6 A>G	6	117244270	117244270	A	G	RFX6	c.1438A>G	NM_173560.4	NP_775831.2:p.(Thr480Ala)	NC_000006.11:g.117244270A>G	VUS	1 lab	fa32b3df2a
15:75699430 SIN3A T>C	15	75699430	75699430	T	C	SIN3A	c.1373A>G	NM_001145358.2	NP_001138830.1:p.(His458Arg)	NC_000015.9:g.75699430T>C	(Likely) benign	1 lab	fa33ebef00
X:107225332 TEX13B C>T	X	107225332	107225332	C	T	TEX13B	c.26G>A	NM_031273.2	NP_112563.1:p.(Ser9Asn)	NC_000023.10:g.107225332C>T	VUS	1 lab	fa36a70d6a
16:87637893 JPH3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	16	87637893	87637935	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	JPH3	c.382+763_382+801dup	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87637897_87637935dup	VUS	1 lab	fa37cf2db7
5:180276981 ZFP62 T>C	5	180276981	180276981	T	C	ZFP62	c.1514A>G	NM_001172638.2	NP_001166109.1:p.(Tyr505Cys)	NC_000005.9:g.180276981T>C	VUS	1 lab	fa39cb6e3f
3:38640547 SCN5A T>G	3	38640547	38640547	T	G	SCN5A	c.1891-6A>C	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38640547T>G	VUS	1 lab	fa3a7950e5
21:47783487 PCNT A>C	21	47783487	47783487	A	C	PCNT	c.2247A>C	NM_006031.6	NP_006022.3:p.(Glu749Asp)	NC_000021.8:g.47783487A>C	(Likely) benign	1 lab	fa3ac497b5
X:14708911 GLRA2 C>T	X	14708911	14708911	C	T	GLRA2	c.1010C>T	NM_002063.4	NP_002054.1:p.(Ala337Val)	NC_000023.10:g.14708911C>T	VUS	1 lab	fa3b557750
4:103790263 CISD2 C>T	4	103790263	103790263	C	T	CISD2	c.22C>T	NM_001008388.5	NP_001008389.1:p.(Arg8Cys)	NC_000004.11:g.103790263C>T	VUS	1 lab	fa3e745aba
2:220337640 SPEG G>T	2	220337640	220337640	G	T	SPEG	c.3969G>T	NM_005876.5	NP_005867.3:p.(Gln1323His)	NC_000002.11:g.220337640G>T	VUS	1 lab	fa3efd04fc
20:35807790 RPN2 G>GCTTACAGACAGGGCCCCGCGGCCGGCACT	20	35807790	35807794	G	GCTTACAGACAGGGCCCCGCGGCCGGCACT	RPN2	c.13+21_13+22insACAGACAGGGCCCCGCGGCCGGCACTCTT	NM_002951.5	NP_002942.2:p.?	NC_000020.10:g.35807793_35807794insACAGACAGGGCCCCGCGGCCGGCACTCTT	VUS	1 lab	fa3f1c1dba
2:220422628 OBSL1 C>G	2	220422628	220422628	C	G	OBSL1	c.3707G>C	NM_015311.3	NP_056126.1:p.(Gly1236Ala)	NC_000002.11:g.220422628C>G	(Likely) benign	1 lab	fa42d48837
2:166799782 TTC21B A>C	2	166799782	166799782	A	C	TTC21B	c.499T>G	NM_024753.5	NP_079029.3:p.(Tyr167Asp)	NC_000002.11:g.166799782A>C	VUS	1 lab	fa43401293
16:72984481 ZFHX3 C>T	16	72984481	72984481	C	T	ZFHX3	c.3103G>A	NM_006885.4	NP_008816.3:p.(Gly1035Ser)	NC_000016.9:g.72984481C>T	(Likely) benign	1 lab	fa4e0a4aa8
5:140222137 PCDHA1 A>ACCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTT	5	140222137	140222138	A	ACCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTT	PCDHA1	c.2394+53868_2394+53869insCCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTT	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140222137_140222138insCCAACTGATCTGATATATTGTATAGTTTAATAGCTTCTCTAGTCATCTTAAACAGGGTT	(Likely) benign	1 lab	fa4714a83e
7:139715645 TBXAS1 C>A	7	139715645	139715645	C	A	TBXAS1	c.1349C>A	NM_001061.7	NP_001052.3:p.(Thr450Asn)	NC_000007.13:g.139715645C>A	(Likely) benign	1 lab	fa4804aa91
20:57484739 GNAS A>G	20	57484739	57484739	A	G	GNAS	c.719A>G	NM_000516.7	NP_000507.1:p.(Asp240Gly)	NC_000020.10:g.57484739A>G	VUS	1 lab	fa4a1a811d
17:7750936 KDM6B A>G	17	7750936	7750936	A	G	KDM6B	c.1330A>G	NM_001348716.2	NP_001335645.1:p.(Ser444Gly)	NC_000017.10:g.7750936A>G	(Likely) benign	1 lab	fa4a280215
1:220364491 RAB3GAP2 G>A	1	220364491	220364491	G	A	RAB3GAP2	c.1406C>T	NM_012414.4	NP_036546.2:p.(Ala469Val)	NC_000001.10:g.220364491G>A	VUS	1 lab	fa4b642beb
17:11593065 DNAH9 T>G	17	11593065	11593065	T	G	DNAH9	c.3926T>G	NM_001372.4	NP_001363.2:p.(Ile1309Ser)	NC_000017.10:g.11593065T>G	VUS	1 lab	fa4d0ff784
19:13397400 CACNA1A G>A	19	13397400	13397400	G	A	CACNA1A	c.3470C>T	NM_001127222.2	NP_001120694.1:p.(Ala1157Val)	NC_000019.9:g.13397400G>A	(Likely) benign	1 lab	fa4d412a55
17:42991388 GFAP T>A	17	42991388	42991388	T	A	GFAP	c.522+8A>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42991388T>A	VUS	1 lab	fa50122fa8
X:142718981 SLITRK4 A>C	X	142718981	142718981	A	C	SLITRK4	c.-50-7T>G	NM_001184749.3	NP_001171678.1:p.?	NC_000023.10:g.142718981A>C	VUS	1 lab	fa5111d6bb
7:99697028 MCM7 T>A	7	99697028	99697028	T	A	MCM7	c.277-2A>T	NM_005916.5	NP_005907.3:p.?	NC_000007.13:g.99697028T>A	(Likely) benign	1 lab	fa51e8fd1c
4:124011763 AFG2A G>A	4	124011763	124011763	G	A	AFG2A	c.2243G>A	NM_145207.3	NP_660208.2:p.(Arg748His)	NC_000004.11:g.124011763G>A	VUS	1 lab	fa5356e08c
13:28578209 FLT3 C>G	13	28578209	28578209	C	G	FLT3	c.2962G>C	NM_004119.3	NP_004110.2:p.(Ala988Pro)	NC_000013.10:g.28578209C>G	(Likely) benign	1 lab	fa53f721b0
1:214794191 CENPF G>A	1	214794191	214794191	G	A	CENPF	c.767G>A	NM_016343.4	NP_057427.3:p.(Arg256Gln)	NC_000001.10:g.214794191G>A	VUS	1 lab	fa542f31b9
13:100637729 ZIC2 T>G	13	100637729	100637729	T	G	ZIC2	c.1392T>G	NM_007129.5	NP_009060.2:p.(Ala464=)	NC_000013.10:g.100637729T>G	(Likely) benign	1 lab	fa55a34e04
6:73839568 KCNQ5 C>T	6	73839568	73839568	C	T	KCNQ5	c.1248-3576C>T	NM_019842.4	NP_062816.2:p.?	NC_000006.11:g.73839568C>T	VUS	1 lab	fa55b819ce
14:102452461 DYNC1H1 TA>T	14	102452461	102452463	TA	T	DYNC1H1	c.1901del	NM_001376.5	NP_001367.2:p.(Lys634ArgfsTer2)	NC_000014.8:g.102452463del	VUS	1 lab	fa59d98e03
21:47549405 COL6A2 A>C	21	47549405	47549405	A	C	COL6A2	c.2462-2463A>C	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47549405A>C	(Likely) benign	1 lab	fa5a90ea09
2:220356942 SPEG G>A	2	220356942	220356942	G	A	SPEG	c.9571G>A	NM_005876.5	NP_005867.3:p.(Ala3191Thr)	NC_000002.11:g.220356942G>A	VUS	1 lab	fa5ce378cb
1:152278771 FLG T>C	1	152278771	152278771	T	C	FLG	c.8591A>G	NM_002016.2	NP_002007.1:p.(His2864Arg)	NC_000001.10:g.152278771T>C	(Likely) benign	1 lab	fa5cf9139c
5:14492907 TRIO C>A	5	14492907	14492907	C	A	TRIO	c.7864C>A	NM_007118.4	NP_009049.2:p.(Pro2622Thr)	NC_000005.9:g.14492907C>A	(Likely) benign	1 lab	2f029901e4
19:11141578 SMARCA4 G>A	19	11141578	11141578	G	A	SMARCA4	c.3546+9G>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11141578G>A	(Likely) benign	1 lab	fa5e6e12d8
4:652789 PDE6B G>A	4	652789	652789	G	A	PDE6B	c.1450G>A	NM_000283.4	NP_000274.3:p.(Glu484Lys)	NC_000004.11:g.652789G>A	VUS	1 lab	fa5fe9ff2f
1:103461555 COL11A1 C>T	1	103461555	103461555	C	T	COL11A1	c.2285G>A	NM_001854.4	NP_001845.3:p.(Arg762Gln)	NC_000001.10:g.103461555C>T	VUS	1 lab	fa5ffa50a6
11:2591912 KCNQ1 G>A	11	2591912	2591912	G	A	KCNQ1	c.532G>A	NM_000218.2	NP_000209.2:p.(Ala178Thr)	NC_000011.9:g.2591912G>A	(Likely) pathogenic	1 lab	320aa3bc22
15:90210401 PLIN1 C>T	15	90210401	90210401	C	T	PLIN1	c.975G>A	NM_002666.5	NP_002657.3:p.(Leu325=)	NC_000015.9:g.90210401C>T	(Likely) benign	1 lab	fa6137275f
2:240036635 HDAC4 A>G	2	240036635	240036635	A	G	HDAC4	c.1791+114T>C	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240036635A>G	(Likely) benign	1 lab	fa61d295ba
5:94891080 ARSK A>G	5	94891080	94891080	A	G	ARSK	c.98A>G	NM_198150.3	NP_937793.1:p.(Asn33Ser)	NC_000005.9:g.94891080A>G	VUS	1 lab	fa62b3e6f7
16:68387362 PRMT7 G>A	16	68387362	68387362	G	A	PRMT7	c.1576-33G>A	NM_019023.5	NP_061896.1:p.?	NC_000016.9:g.68387362G>A	VUS	1 lab	fa645c46ab
13:113433903 ATP11A CTG>C	13	113433903	113433905	CTG	C	ATP11A	c.40-5545_40-5544del	NM_015205.3	NP_056020.2:p.?	NC_000013.10:g.113433904_113433905del	(Likely) benign	1 lab	fa6472c793
2:111397325 BUB1 A>G	2	111397325	111397325	A	G	BUB1	c.3056T>C	NM_004336.5	NP_004327.1:p.(Phe1019Ser)	NC_000002.11:g.111397325A>G	VUS	1 lab	fa6a44af4b
16:2168454 PKD1 T>C	16	2168454	2168454	T	C	PKD1	c.539A>G	NM_001009944.2	NP_001009944.2:p.(Tyr180Cys)	NC_000016.9:g.2168454T>C	VUS	1 lab	320e183377
4:6611037 MAN2B2 G>A	4	6611037	6611037	G	A	MAN2B2	c.2006+12G>A	NM_015274.3	NP_056089.1:p.?	NC_000004.11:g.6611037G>A	(Likely) benign	1 lab	320f43b9e6
X:39911588 BCOR C>T	X	39911588	39911588	C	T	BCOR	c.5042G>A	NM_001123385.2	NP_001116857.1:p.(Arg1681His)	NC_000023.10:g.39911588C>T	VUS	1 lab	fa6d9985f9
11:73814396 C2CD3 G>A	11	73814396	73814396	G	A	C2CD3	c.2360C>T	NM_001286577.2	NP_001273506.1:p.(Ser787Phe)	NC_000011.9:g.73814396G>A	VUS	1 lab	fa6da00285
5:149439328 CSF1R G>A	5	149439328	149439328	G	A	CSF1R	c.2067C>T	NM_001288705.3	NP_001275634.1:p.(Pro689=)	NC_000005.9:g.149439328G>A	VUS	1 lab	fa6e7b0eb0
1:160321499 NCSTN C>T	1	160321499	160321499	C	T	NCSTN	c.747C>T	NM_015331.3	NP_056146.1:p.(Asp249=)	NC_000001.10:g.160321499C>T	(Likely) benign	1 lab	fa6f9a50d5
3:183858417 EIF2B5 A>G	3	183858417	183858417	A	G	EIF2B5	c.1055A>G	NM_003907.3	NP_003898.2:p.(His352Arg)	NC_000003.11:g.183858417A>G	VUS	1 lab	fa6fa0f98a
10:90768741 FAS G>T	10	90768741	90768741	G	T	FAS	c.430G>T	NM_000043.6	NP_000034.1:p.(Asp144Tyr)	NC_000010.10:g.90768741G>T	(Likely) benign	1 lab	fa70b916ce
6:42976889 PPP2R5D A>C	6	42976889	42976889	A	C	PPP2R5D	c.1175A>C	NM_006245.4	NP_006236.1:p.(Glu392Ala)	NC_000006.11:g.42976889A>C	VUS	1 lab	fa71639377
4:170509861 NEK1 T>C	4	170509861	170509861	T	C	NEK1	c.490A>G	NM_001199397.3	NP_001186326.1:p.(Ile164Val)	NC_000004.11:g.170509861T>C	VUS	1 lab	fa7226974f
7:47933494 PKD1L1 C>T	7	47933494	47933494	C	T	PKD1L1	c.2434G>A	NM_138295.5	NP_612152.1:p.(Asp812Asn)	NC_000007.13:g.47933494C>T	(Likely) benign	1 lab	fa725a3415
3:58111304 FLNB G>A	3	58111304	58111304	G	A	FLNB	c.3899-4G>A	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58111304G>A	VUS	1 lab	fa73deb964
19:11150179 SMARCA4 C>T	19	11150179	11150179	C	T	SMARCA4	c.4171-1804C>T	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11150179C>T	VUS	1 lab	fa74ad0fb8
12:49425954 KMT2D G>A	12	49425954	49425954	G	A	KMT2D	c.12534C>T	NM_003482.4	NP_003473.3:p.(Val4178=)	NC_000012.11:g.49425954G>A	(Likely) benign	1 lab	fa75b8d880
3:129293324 PLXND1 T>C	3	129293324	129293324	T	C	PLXND1	c.2540A>G	NM_015103.3	NP_055918.3:p.(Tyr847Cys)	NC_000003.11:g.129293324T>C	VUS	1 lab	fa75bfc45c
9:108366664 FKTN A>T	9	108366664	108366664	A	T	FKTN	c.538A>T	NM_001079802.2	NP_001073270.1:p.(Ser180Cys)	NC_000009.11:g.108366664A>T	VUS	1 lab	fa77681304
1:202700956 KDM5B C>A	1	202700956	202700956	C	A	KDM5B	c.4021G>T	NM_006618.5	NP_006609.3:p.(Gly1341Cys)	NC_000001.10:g.202700956C>A	VUS	1 lab	fa79521484
3:49050553 WDR6 G>A	3	49050553	49050553	G	A	WDR6	c.1586G>A	NM_018031.6	NP_060501.4:p.(Gly529Glu)	NC_000003.11:g.49050553G>A	VUS	1 lab	fa7aa0dea5
9:43626814 SPATA31A6 C>T	9	43626814	43626814	C	T	SPATA31A6	c.1873G>A	NM_001145196.1	NP_001138668.1:p.(Glu625Lys)	NC_000009.11:g.43626814C>T	(Likely) benign	1 lab	fa7ae9781e
15:89398502 ACAN T>A	15	89398502	89398502	T	A	ACAN	c.2686T>A	NM_001369268.1	NP_001356197.1:p.(Ser896Thr)	NC_000015.9:g.89398502T>A	(Likely) benign	1 lab	fa7b8cf719
1:151263432 ZNF687 G>C	1	151263432	151263432	G	C	ZNF687	c.3461G>C	NM_020832.3	NP_065883.1:p.(Arg1154Pro)	NC_000001.10:g.151263432G>C	(Likely) benign	1 lab	fa7eb396af
18:74592121 ZNF236 C>T	18	74592121	74592121	C	T	ZNF236	c.1037C>T	NM_001306089.2	NP_001293018.1:p.(Ser346Leu)	NC_000018.9:g.74592121C>T	(Likely) benign	1 lab	fa8106a0b8
21:34922203 SON CTCAGAGCAG>C	21	34922203	34922223	CTCAGAGCAG	C	SON	c.678_686del	NM_138927.4	NP_620305.3:p.(Glu227_Ser229del)	NC_000021.8:g.34922215_34922223del	(Likely) benign	1 lab	fa816cb310
19:42482439 ATP1A3 T>A	19	42482439	42482439	T	A	ATP1A3	c.1670A>T	NM_152296.5	NP_689509.1:p.(Lys557Met)	NC_000019.9:g.42482439T>A	(Likely) pathogenic	1 lab	fa852a542d
16:1402283 GNPTG A>C	16	1402283	1402283	A	C	GNPTG	c.154A>C	NM_032520.5	NP_115909.1:p.(Lys52Gln)	NC_000016.9:g.1402283A>C	(Likely) benign	1 lab	fa86641df2
10:105797412 COL17A1 C>T	10	105797412	105797412	C	T	COL17A1	c.3190G>A	NM_000494.4	NP_000485.3:p.(Val1064Ile)	NC_000010.10:g.105797412C>T	(Likely) benign	1 lab	fa86ba7841
19:47259552 FKRP G>C	19	47259552	47259552	G	C	FKRP	c.845G>C	NM_024301.5	NP_077277.1:p.(Gly282Ala)	NC_000019.9:g.47259552G>C	VUS	1 lab	faa92e4102
6:152469342 SYNE1 G>A	6	152469342	152469342	G	A	SYNE1	c.24814C>T	NM_182961.4	NP_892006.3:p.(Arg8272Ter)	NC_000006.11:g.152469342G>A	(Likely) pathogenic	1 lab	fa878946c4
9:119460764 ASTN2 A>C	9	119460764	119460764	A	C	ASTN2	c.2806+27286T>G	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460764A>C	VUS	1 lab	fa89e0125f
1:156501020 IQGAP3 C>T	1	156501020	156501020	C	T	IQGAP3	c.4123G>A	NM_178229.5	NP_839943.3:p.(Asp1375Asn)	NC_000001.10:g.156501020C>T	(Likely) benign	1 lab	fa8adc96cb
X:103029869 PLP1 G>C	X	103029869	103029869	G	C	PLP1				NC_000023.10:g.103029869G>C	VUS	1 lab	fa8cd85885
5:13770873 DNAH5 C>T	5	13770873	13770873	C	T	DNAH5	c.9590G>A	NM_001369.3	NP_001360.1:p.(Arg3197Gln)	NC_000005.9:g.13770873C>T	(Likely) benign	1 lab	fa8fa3af31
10:75608313 CAMK2G T>C	10	75608313	75608313	T	C	CAMK2G	c.572A>G	NM_001367534.1	NP_001354463.1:p.(Tyr191Cys)	NC_000010.10:g.75608313T>C	VUS	1 lab	fa91751629
11:17452500 ABCC8 C>T	11	17452500	17452500	C	T	ABCC8	c.1678G>A	NM_000352.6	NP_000343.2:p.(Val560Met)	NC_000011.9:g.17452500C>T	(Likely) benign	1 lab	fa91f8afdb
X:152845632 ATP2B3 A>C	X	152845632	152845632	A	C	ATP2B3	c.3539A>C	NM_001001344.3	NP_001001344.1:p.(Asn1180Thr)	NC_000023.10:g.152845632A>C	(Likely) benign	1 lab	fa939ab64b
2:179466615 TTN A>G	2	179466615	179466615	A	G	TTN	c.55296T>C	NM_001267550.2	NP_001254479.2:p.(Asp18432=)	NC_000002.11:g.179466615A>G	(Likely) benign	1 lab	fa94cf014c
4:3519921 LRPAP1 T>C	4	3519921	3519921	T	C	LRPAP1	c.593-2A>G	NM_002337.4	NP_002328.1:p.?	NC_000004.11:g.3519921T>C	VUS	1 lab	fa956c5d82
2:97365283 FER1L5 C>T	2	97365283	97365283	C	T	FER1L5	c.4611-4C>T	NM_001293083.2	NP_001280012.1:p.?	NC_000002.11:g.97365283C>T	(Likely) benign	1 lab	fa9583c8b1
1:167096230 STYXL2 A>C	1	167096230	167096230	A	C	STYXL2	c.1862A>C	NM_001080426.3	NP_001073895.1:p.(Lys621Thr)	NC_000001.10:g.167096230A>C	(Likely) benign	1 lab	fa9719b035
17:65935852 BPTF C>T	17	65935852	65935852	C	T	BPTF	c.6260-703C>T	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65935852C>T	(Likely) benign	1 lab	fa980f45ec
16:55518043 MMP2 G>A	16	55518043	55518043	G	A	MMP2	c.496G>A	NM_004530.6	NP_004521.1:p.(Glu166Lys)	NC_000016.9:g.55518043G>A	(Likely) benign	1 lab	fa98ca8bd4
11:124954170 SLC37A2 C>T	11	124954170	124954170	C	T	SLC37A2	c.1080C>T	NM_001145290.2	NP_001138762.1:p.(Gly360=)	NC_000011.9:g.124954170C>T	VUS	1 lab	fa98e34752
19:41848126 TGFB1 C>T	19	41848126	41848126	C	T	TGFB1	c.661G>A	NM_000660.7	NP_000651.3:p.(Ala221Thr)	NC_000019.9:g.41848126C>T	(Likely) benign	1 lab	fa992fb486
19:1529435 PLK5 C>G	19	1529435	1529435	C	G	PLK5	c.436C>G	NM_001243079.2	NP_001230008.1:p.(Leu146Val)	NC_000019.9:g.1529435C>G	(Likely) benign	1 lab	fa997acf3d
22:50280156 ZBED4 C>T	22	50280156	50280156	C	T	ZBED4	c.2846C>T	NM_014838.3	NP_055653.2:p.(Thr949Met)	NC_000022.10:g.50280156C>T	(Likely) benign	1 lab	fa9a0797be
19:42778094 CIC C>T	19	42778094	42778094	C	T	CIC	c.2159C>T	NM_001386298.1	NP_001373227.1:p.(Pro720Leu)	NC_000019.9:g.42778094C>T	VUS	1 lab	fa9a6b73bc
17:10539144 MYH3 T>C	17	10539144	10539144	T	C	MYH3	c.3883A>G	NM_002470.4	NP_002461.2:p.(Lys1295Glu)	NC_000017.10:g.10539144T>C	VUS	1 lab	fa9b4b5326
14:81609751 TSHR G>A	14	81609751	81609751	G	A	TSHR	c.1349G>A	NM_000369.5	NP_000360.2:p.(Arg450His)	NC_000014.8:g.81609751G>A	(Likely) pathogenic	1 lab	fa9c0d882a
1:16258928 SPEN A>G	1	16258928	16258928	A	G	SPEN	c.6193A>G	NM_015001.3	NP_055816.2:p.(Lys2065Glu)	NC_000001.10:g.16258928A>G	VUS	1 lab	fa9c1420ce
2:238666128 LRRFIP1 G>A	2	238666128	238666128	G	A	LRRFIP1	c.1161G>A	NM_001137550.2	NP_001131022.1:p.(Ala387=)	NC_000002.11:g.238666128G>A	VUS	1 lab	fa9ce69b3d
20:40034077 CHD6 C>G	20	40034077	40034077	C	G	CHD6	c.7304G>C	NM_032221.5	NP_115597.3:p.(Arg2435Pro)	NC_000020.10:g.40034077C>G	VUS	1 lab	fa9e460003
19:36213892 KMT2B A>G	19	36213892	36213892	A	G	KMT2B	c.2723-5A>G	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36213892A>G	(Likely) benign	1 lab	fa9efb3c44
3:46944275 PTH1R G>A	3	46944275	46944275	G	A	PTH1R	c.1390G>A	NM_000316.3	NP_000307.1:p.(Gly464Ser)	NC_000003.11:g.46944275G>A	VUS	1 lab	fa9f5922c1
8:60031540 TOX C>G	8	60031540	60031540	C	G	TOX	c.7G>C	NM_014729.3	NP_055544.1:p.(Val3Leu)	NC_000008.10:g.60031540C>G	VUS	1 lab	faa2c2506b
5:140230060 PCDHA1 G>C	5	140230060	140230060	G	C	PCDHA1	c.2394+61791G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140230060G>C	VUS	1 lab	faa327713f
4:79353547 FRAS1 C>T	4	79353547	79353547	C	T	FRAS1	c.5006C>T	NM_025074.7	NP_079350.5:p.(Ala1669Val)	NC_000004.11:g.79353547C>T	(Likely) benign	1 lab	faa459bddc
2:238280984 COL6A3 C>T	2	238280984	238280984	C	T	COL6A3	c.3680-4G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238280984C>T	(Likely) benign	1 lab	faa7f35270
12:121206839 SPPL3 C>T	12	121206839	121206839	C	T	SPPL3	c.526G>A	NM_139015.5	NP_620584.2:p.(Ala176Thr)	NC_000012.11:g.121206839C>T	VUS	1 lab	faade5cd72
20:33329948 NCOA6 G>A	20	33329948	33329948	G	A	NCOA6	c.4112C>T	NM_014071.5	NP_054790.2:p.(Pro1371Leu)	NC_000020.10:g.33329948G>A	(Likely) benign	1 lab	faae4f013b
13:111080851 COL4A2 G>T	13	111080851	111080851	G	T	COL4A2	c.398G>T	NM_001846.4	NP_001837.2:p.(Gly133Val)	NC_000013.10:g.111080851G>T	(Likely) benign	1 lab	faaee3d248
3:97596373 CRYBG3 A>C	3	97596373	97596373	A	C	CRYBG3	c.6335A>C	NM_153605.4	NP_705833.3:p.(Lys2112Thr)	NC_000003.11:g.97596373A>C	(Likely) benign	1 lab	faaf76ae97
3:139067171 MRPS22 GTA>G	3	139067171	139067176	GTA	G	MRPS22	c.504+9_504+10del	NM_020191.4	NP_064576.1:p.?	NC_000003.11:g.139067175_139067176del	VUS	1 lab	faaf7e84d7
2:48026397 MSH6 CT>C	2	48026397	48026398	CT	C	MSH6	c.1276del	NM_000179.3	NP_000170.1:p.(Cys426ValfsTer27)	NC_000002.11:g.48026398del	(Likely) pathogenic	1 lab	faaf816792
16:77359774 ADAMTS18 G>A	16	77359774	77359774	G	A	ADAMTS18	c.2021C>T	NM_199355.4	NP_955387.1:p.(Thr674Ile)	NC_000016.9:g.77359774G>A	(Likely) benign	1 lab	faaff84ff0
12:49360330 WNT10B T>C	12	49360330	49360330	T	C	WNT10B	c.718A>G	NM_003394.4	NP_003385.2:p.(Thr240Ala)	NC_000012.11:g.49360330T>C	(Likely) benign	1 lab	fab06928f2
17:38447823 CDC6 A>T	17	38447823	38447823	A	T	CDC6	c.563A>T	NM_001254.4	NP_001245.1:p.(Glu188Val)	NC_000017.10:g.38447823A>T	(Likely) benign	1 lab	fab10535f4
3:15686437 BTD T>C	3	15686437	15686437	T	C	BTD	c.1014T>C	NM_001370658.1	NP_001357587.1:p.(His338=)	NC_000003.11:g.15686437T>C	(Likely) benign	1 lab	fab1a65731
9:140865849 CACNA1B C>T	9	140865849	140865849	C	T	CACNA1B	c.1348C>T	NM_000718.4	NP_000709.1:p.(Arg450Cys)	NC_000009.11:g.140865849C>T	VUS	1 lab	fab27278d4
4:997845 IDUA G>A	4	997845	997845	G	A	IDUA	c.1773G>A	NM_000203.5	NP_000194.2:p.(Ala591=)	NC_000004.11:g.997845G>A	(Likely) benign	1 lab	fab2c1dc17
1:16725271 SPATA21 G>A	1	16725271	16725271	G	A	SPATA21	c.1399C>T	NM_198546.1	NP_940948.1:p.(Arg467Ter)	NC_000001.10:g.16725271G>A	VUS	1 lab	fab2f6ad9e
8:106814080 ZFPM2 G>A	8	106814080	106814080	G	A	ZFPM2	c.1770G>A	NM_012082.4	NP_036214.2:p.(Lys590=)	NC_000008.10:g.106814080G>A	(Likely) benign	1 lab	fab35888d6
3:111264124 CD96 G>A	3	111264124	111264124	G	A	CD96	c.293G>A	NM_005816.5	NP_005807.1:p.(Gly98Glu)	NC_000003.11:g.111264124G>A	(Likely) benign	1 lab	fab41740d5
9:36233956 GNE C>T	9	36233956	36233956	C	T	GNE	c.943G>A	NM_005476.7	NP_005467.1:p.(Val315Met)	NC_000009.11:g.36233956C>T	VUS	1 lab	fab51d4a5f
19:39963758 SUPT5H C>T	19	39963758	39963758	C	T	SUPT5H	c.2258+4C>T	NM_001111020.3	NP_001104490.1:p.?	NC_000019.9:g.39963758C>T	(Likely) benign	1 lab	fab528124b
1:40776902 COL9A2 C>T	1	40776902	40776902	C	T	COL9A2	c.576G>A	NM_001852.4	NP_001843.1:p.(Lys192=)	NC_000001.10:g.40776902C>T	VUS	1 lab	fab55496cb
2:54852076 SPTBN1 G>T	2	54852076	54852076	G	T	SPTBN1	c.1318G>T	NM_003128.3	NP_003119.2:p.(Glu440Ter)	NC_000002.11:g.54852076G>T	(Likely) pathogenic	1 lab	fab5880401
1:92944314 GFI1 CAGAGAGAGAGAG>C	1	92944314	92944351	CAGAGAGAGAGAG	C	GFI1	c.925-16_925-5del	NM_005263.5	NP_005254.2:p.?	NC_000001.10:g.92944340_92944351del	(Likely) benign	1 lab	fab62f707e
16:50138853 HEATR3 C>A	16	50138853	50138853	C	A	HEATR3	c.1924C>A	NM_182922.4	NP_891552.1:p.(Arg642Ser)	NC_000016.9:g.50138853C>A	VUS	1 lab	fab8d71196
12:498086 KDM5A G>A	12	498086	498086	G	A	KDM5A	c.165+7C>T	NM_001042603.3	NP_001036068.1:p.?	NC_000012.11:g.498086G>A	(Likely) benign	1 lab	faba083f91
9:139325504 INPP5E C>T	9	139325504	139325504	C	T	INPP5E	c.1615G>A	NM_019892.6	NP_063945.2:p.(Gly539Arg)	NC_000009.11:g.139325504C>T	VUS	1 lab	faba2d8d44
15:99467917 IGF1R AG>A	15	99467917	99467919	AG	A	IGF1R	c.2782+6del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467919del	(Likely) benign	1 lab	fababd334f
1:234509315 COA6 C>T	1	234509315	234509315	C	T	COA6	c.103C>T	NM_001206641.3	NP_001193570.2:p.(Pro35Ser)	NC_000001.10:g.234509315C>T	(Likely) benign	1 lab	fabbabd66d
18:33716266 ELP2 T>G	18	33716266	33716266	T	G	ELP2	c.218-4T>G	NM_018255.4	NP_060725.1:p.?	NC_000018.9:g.33716266T>G	(Likely) benign	1 lab	fabccca47c
1:1289226 MXRA8 A>C	1	1289226	1289226	A	C	MXRA8	c.1303+2T>G	NM_032348.4	NP_115724.1:p.?	NC_000001.10:g.1289226A>C	VUS	1 lab	face30822e
6:50791584 TFAP2B CACAA>C	6	50791584	50791609	CACAA	C	TFAP2B	c.540+28_540+31del	NM_003221.4	NP_003212.2:p.?	NC_000006.11:g.50791606_50791609del	(Likely) benign	1 lab	fabd77cd12
12:120263058 CIT C>T	12	120263058	120263058	C	T	CIT	c.868G>A	NM_001206999.2	NP_001193928.1:p.(Gly290Ser)	NC_000012.11:g.120263058C>T	(Likely) pathogenic	1 lab	fabde2f361
6:49419386 MMUT C>T	6	49419386	49419386	C	T	MMUT	c.1125G>A	NM_000255.4	NP_000246.2:p.(Met375Ile)	NC_000006.11:g.49419386C>T	VUS	1 lab	fae6e250cc
22:32019732 PISD A>G	22	32019732	32019732	A	G	PISD	c.322-1861T>C	NM_001326411.2	NP_001313340.1:p.?	NC_000022.10:g.32019732A>G	VUS	1 lab	fac2161bc7
17:7359942 CHRNB1 G>T	17	7359942	7359942	G	T	CHRNB1	c.1406G>T	NM_000747.3	NP_000738.2:p.(Arg469Leu)	NC_000017.10:g.7359942G>T	VUS	1 lab	fac3f2c0a7
3:12434246 PPARG A>G	3	12434246	12434246	A	G	PPARG	c.524A>G	NM_138711.6	NP_619725.3:p.(His175Arg)	NC_000003.11:g.12434246A>G	VUS	1 lab	fac4c008bc
9:15874637 CCDC171 C>T	9	15874637	15874637	C	T	CCDC171	c.3576C>T	NM_173550.4	NP_775821.2:p.(Gly1192=)	NC_000009.11:g.15874637C>T	(Likely) benign	1 lab	fac5e90702
2:220428149 OBSL1 G>C	2	220428149	220428149	G	C	OBSL1	c.2608C>G	NM_015311.3	NP_056126.1:p.(Gln870Glu)	NC_000002.11:g.220428149G>C	VUS	1 lab	fac7d6f5e4
19:7117335 INSR A>G	19	7117335	7117335	A	G	INSR	c.3881T>C	NM_000208.4	NP_000199.2:p.(Leu1294Pro)	NC_000019.9:g.7117335A>G	VUS	1 lab	fac83a88c5
17:59858182 BRIP1 A>G	17	59858182	59858182	A	G	BRIP1	c.1794+19T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59858182A>G	(Likely) benign	1 lab	faca78601a
19:1453520 APC2 G>T	19	1453520	1453520	G	T	APC2	c.323G>T	NM_005883.3	NP_005874.1:p.(Ser108Ile)	NC_000019.9:g.1453520G>T	VUS	1 lab	faca985693
20:62320928 RTEL1 G>T	20	62320928	62320928	G	T	RTEL1	c.1952G>T	NM_001283009.2	NP_001269938.1:p.(Arg651Leu)	NC_000020.10:g.62320928G>T	VUS	1 lab	facb307356
15:43584899 TGM7 C>T	15	43584899	43584899	C	T	TGM7	c.439+8G>A	NM_052955.3	NP_443187.1:p.?	NC_000015.9:g.43584899C>T	(Likely) benign	1 lab	faccf64028
X:151870233 MAGEA3 C>T	X	151870233	151870233	C	T	MAGEA3	c.923=	NM_005362.4	NP_005353.1:p.(Val308=)	NC_000023.10:g.151870233C>T	VUS	1 lab	facd03874d
14:21834671 SUPT16H C>T	14	21834671	21834671	C	T	SUPT16H	c.973G>A	NM_007192.4	NP_009123.1:p.(Val325Met)	NC_000014.8:g.21834671C>T	VUS	1 lab	facf3e7e22
1:244999030 COX20 C>G	1	244999030	244999030	C	G	COX20	c.14C>G	NM_198076.6	NP_932342.1:p.(Pro5Arg)	NC_000001.10:g.244999030C>G	(Likely) benign	1 lab	fad161ddc5
11:17482161 ABCC8 G>A	11	17482161	17482161	G	A	ABCC8	c.885C>T	NM_000352.6	NP_000343.2:p.(Phe295=)	NC_000011.9:g.17482161G>A	(Likely) benign	1 lab	fad3d3a3b1
2:141032021 LRP1B T>A	2	141032021	141032021	T	A	LRP1B	c.13114A>T	NM_018557.3	NP_061027.2:p.(Asn4372Tyr)	NC_000002.11:g.141032021T>A	(Likely) benign	1 lab	fad5952032
10:131671752 EBF3 G>C	10	131671752	131671752	G	C	EBF3	c.745C>G	NM_001005463.3	NP_001005463.1:p.(Pro249Ala)	NC_000010.10:g.131671752G>C	VUS	1 lab	2f05ecfebb
5:127647127 FBN2 G>A	5	127647127	127647127	G	A	FBN2	c.4949-10C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127647127G>A	(Likely) benign	1 lab	fada57f005
6:44102755 TMEM63B C>T	6	44102755	44102755	C	T	TMEM63B	c.161C>T	NM_018426.3	NP_060896.1:p.(Ala54Val)	NC_000006.11:g.44102755C>T	(Likely) benign	1 lab	fadc2b2f33
12:112940061 PTPN11 G>C	12	112940061	112940061	G	C	PTPN11	c.1712+1G>C	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112940061G>C	(Likely) pathogenic	1 lab	fadc9c26fa
19:31767501 TSHZ3 T>G	19	31767501	31767501	T	G	TSHZ3	c.3198A>C	NM_020856.4	NP_065907.2:p.(Lys1066Asn)	NC_000019.9:g.31767501T>G	VUS	1 lab	2f06004674
6:84862806 CEP162 C>A	6	84862806	84862806	C	A	CEP162	c.3087G>T	NM_014895.4	NP_055710.2:p.(Lys1029Asn)	NC_000006.11:g.84862806C>A	(Likely) benign	1 lab	fadcc8b8d8
12:102057272 MYBPC1 C>T	12	102057272	102057272	C	T	MYBPC1	c.2290C>T	NM_002465.4	NP_002456.2:p.(Arg764Cys)	NC_000012.11:g.102057272C>T	VUS	1 lab	fadf3207eb
17:3632821 ITGAE C>T	17	3632821	3632821	C	T	ITGAE	c.2863G>A	NM_002208.5	NP_002199.3:p.(Glu955Lys)	NC_000017.10:g.3632821C>T	(Likely) benign	1 lab	fae0b2bb3c
7:47979920 PKD1L1 G>GA	7	47979920	47979932	G	GA	PKD1L1	c.161-7dup	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47979932dup	(Likely) benign	1 lab	fae0d7b127
5:13751270 DNAH5 G>A	5	13751270	13751270	G	A	DNAH5	c.11128C>T	NM_001369.3	NP_001360.1:p.(Arg3710Cys)	NC_000005.9:g.13751270G>A	VUS	1 lab	fae18bb93c
17:56435253 RNF43 G>A	17	56435253	56435253	G	A	RNF43	c.1884C>T	NM_017763.6	NP_060233.3:p.(Asp628=)	NC_000017.10:g.56435253G>A	(Likely) benign	1 lab	fae1ded990
14:20844271 TEP1 G>A	14	20844271	20844271	G	A	TEP1	c.6241C>T	NM_007110.5	NP_009041.2:p.(Arg2081Trp)	NC_000014.8:g.20844271G>A	(Likely) benign	1 lab	fae2ffb461
4:159568151 RXFP1 T>C	4	159568151	159568151	T	C	RXFP1	c.1554T>C	NM_021634.4	NP_067647.2:p.(Phe518=)	NC_000004.11:g.159568151T>C	(Likely) benign	1 lab	fae3d056cf
9:139272459 SNAPC4 G>GCAGGCC	9	139272459	139272469	G	GCAGGCC	SNAPC4	c.3814_3819dup	NM_003086.4	NP_003077.2:p.(Gly1272_Leu1273dup)	NC_000009.11:g.139272464_139272469dup	VUS	1 lab	fae7d61bf0
12:41587983 PDZRN4 T>A	12	41587983	41587983	T	A	PDZRN4	c.836T>A	NM_001164595.2	NP_001158067.1:p.(Ile279Asn)	NC_000012.11:g.41587983T>A	(Likely) benign	1 lab	fae81c8fb2
12:129178563 TMEM132C A>G	12	129178563	129178563	A	G	TMEM132C	c.1639A>G	NM_001136103.3	NP_001129575.2:p.(Ile547Val)	NC_000012.11:g.129178563A>G	VUS	1 lab	fae90ab9d6
1:241680591 FH T>A	1	241680591	241680591	T	A	FH	c.158A>T	NM_000143.4	NP_000134.2:p.(Glu53Val)	NC_000001.10:g.241680591T>A	VUS	1 lab	faebdf5083
20:45212284 SLC13A3 G>A	20	45212284	45212284	G	A	SLC13A3	c.1146C>T	NM_022829.6	NP_073740.2:p.(Gly382=)	NC_000020.10:g.45212284G>A	VUS	1 lab	faec876cdb
4:88929373 PKD2 C>G	4	88929373	88929373	C	G	PKD2	c.488C>G	NM_000297.4	NP_000288.1:p.(Pro163Arg)	NC_000004.11:g.88929373C>G	(Likely) benign	1 lab	faec8e5ac9
11:66455054 SPTBN2 G>A	11	66455054	66455054	G	A	SPTBN2	c.6566C>T	NM_006946.4	NP_008877.2:p.(Pro2189Leu)	NC_000011.9:g.66455054G>A	VUS	1 lab	faedcea0a7
13:39264127 FREM2 G>T	13	39264127	39264127	G	T	FREM2	c.2646G>T	NM_207361.6	NP_997244.4:p.(Gln882His)	NC_000013.10:g.39264127G>T	(Likely) benign	1 lab	faee4f579c
3:121973111 CASR A>C	3	121973111	121973111	A	C	CASR	c.75A>C	NM_000388.4	NP_000379.3:p.(Arg25=)	NC_000003.11:g.121973111A>C	(Likely) benign	1 lab	faf07b3585
19:47104226 CALM3 T>C	19	47104226	47104226	T	C	CALM3				NC_000019.9:g.47104226T>C	(Likely) benign	1 lab	faf0f180d4
8:145741604 RECQL4 C>A	8	145741604	145741604	C	A	RECQL4	c.899G>T	NM_004260.4	NP_004251.4:p.(Gly300Val)	NC_000008.10:g.145741604C>A	VUS	1 lab	faf2a7c63d
7:95041704 PON2 CT>C	7	95041704	95041706	CT	C	PON2	c.286del	NM_000305.3	NP_000296.2:p.(Arg96GlyfsTer5)	NC_000007.13:g.95041706del	(Likely) benign	1 lab	faf37c35dd
6:87967387 ZNF292 G>A	6	87967387	87967387	G	A	ZNF292	c.4040G>A	NM_015021.3	NP_055836.1:p.(Arg1347His)	NC_000006.11:g.87967387G>A	(Likely) benign	1 lab	fafa4c562f
3:134214169 CEP63 GC>G	3	134214169	134214170	GC	G	CEP63	c.8del	NM_001353108.3	NP_001340037.1:p.(Ala3ValfsTer3)	NC_000003.11:g.134214170del	VUS	1 lab	fafbf08e8f
3:119134459 ARHGAP31 C>T	3	119134459	119134459	C	T	ARHGAP31	c.3683C>T	NM_020754.4	NP_065805.2:p.(Pro1228Leu)	NC_000003.11:g.119134459C>T	(Likely) benign	1 lab	fafdb8c9bc
17:48148762 ITGA3 C>T	17	48148762	48148762	C	T	ITGA3	c.839C>T	NM_002204.4	NP_002195.1:p.(Ala280Val)	NC_000017.10:g.48148762C>T	VUS	1 lab	fafe1acbd7
8:143999168 CYP11B2 C>T	8	143999168	143999168	C	T	CYP11B2	c.89G>A	NM_000498.3	NP_000489.3:p.(Arg30Gln)	NC_000008.10:g.143999168C>T	(Likely) benign	1 lab	321114ac67
5:176662814 NSD1 T>A	5	176662814	176662814	T	A	NSD1	c.3797-8T>A	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176662814T>A	(Likely) benign	1 lab	fb15ebca79
22:43617229 SCUBE1 C>T	22	43617229	43617229	C	T	SCUBE1	c.1499G>A	NM_173050.5	NP_766638.2:p.(Arg500Gln)	NC_000022.10:g.43617229C>T	VUS	1 lab	fafea51bb3
17:78313329 RNF213 C>T	17	78313329	78313329	C	T	RNF213	c.5162C>T	NM_001256071.3	NP_001243000.2:p.(Pro1721Leu)	NC_000017.10:g.78313329C>T	(Likely) benign	1 lab	fb017f4faf
14:76524981 IFT43 TCAGG>T	14	76524981	76524985	TCAGG	T	IFT43	c.216-3_216del	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76524982_76524985del	(Likely) benign	1 lab	fb030364d8
2:179612902 TTN T>C	2	179612902	179612902	T	C	TTN	c.11311+4949A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612902T>C	VUS	1 lab	fb035f41ac
2:121555015 GLI2 C>T	2	121555015	121555015	C	T	GLI2	c.119C>T	NM_001374353.1	NP_001361282.1:p.(Ala40Val)	NC_000002.11:g.121555015C>T	(Likely) benign	1 lab	fb03b7b2d9
3:142204067 ATR A>G	3	142204067	142204067	A	G	ATR	c.6136T>C	NM_001184.4	NP_001175.2:p.(Tyr2046His)	NC_000003.11:g.142204067A>G	VUS	1 lab	fb05720a01
8:113253954 CSMD3 A>G	8	113253954	113253954	A	G	CSMD3	c.10463T>C	NM_198123.2	NP_937756.1:p.(Leu3488Pro)	NC_000008.10:g.113253954A>G	(Likely) benign	1 lab	fb06efd82e
10:88476156 LDB3 CTG>C	10	88476156	88476158	CTG	C	LDB3	c.1305_1306del	NM_007078.3	NP_009009.1:p.(Ala436LeufsTer34)	NC_000010.10:g.88476157_88476158del	(Likely) benign	1 lab	fb0734b7ee
1:39876393 MACF1 C>G	1	39876393	39876393	C	G	MACF1	c.15817-11653C>G	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39876393C>G	VUS	1 lab	fb075de666
7:104753730 KMT2E C>T	7	104753730	104753730	C	T	KMT2E	c.5527C>T	NM_182931.3	NP_891847.1:p.(Gln1843Ter)	NC_000007.13:g.104753730C>T	VUS	1 lab	fb08202082
2:74328434 TET3 C>T	2	74328434	74328434	C	T	TET3	c.4519C>T	NM_001287491.2	NP_001274420.1:p.(Arg1507Trp)	NC_000002.11:g.74328434C>T	VUS	1 lab	fb0957f0ed
3:57233929 HESX1 C>G	3	57233929	57233929	C	G	HESX1	c.18G>C	NM_003865.3	NP_003856.1:p.(Gln6His)	NC_000003.11:g.57233929C>G	VUS	1 lab	fb0a2025cb
2:10583352 ODC1 T>C	2	10583352	10583352	T	C	ODC1	c.750+4A>G	NM_002539.3	NP_002530.1:p.?	NC_000002.11:g.10583352T>C	VUS	1 lab	fb0a35cb8a
16:10775949 TEKT5 T>C	16	10775949	10775949	T	C	TEKT5	c.764A>G	NM_144674.2	NP_653275.1:p.(Asp255Gly)	NC_000016.9:g.10775949T>C	(Likely) benign	1 lab	fb0aaa0b57
16:3778400 CREBBP T>TTGC	16	3778400	3778414	T	TTGC	CREBBP	c.6645_6647dup	NM_004380.3	NP_004371.2:p.(Gln2216dup)	NC_000016.9:g.3778412_3778414dup	(Likely) benign	1 lab	fb0acbb6fd
11:112099318 PTS A>T	11	112099318	112099318	A	T	PTS	c.85A>T	NM_000317.3	NP_000308.1:p.(Lys29Ter)	NC_000011.9:g.112099318A>T	(Likely) benign	1 lab	fb0c696e51
8:126087346 WASHC5 C>T	8	126087346	126087346	C	T	WASHC5	c.872G>A	NM_014846.4	NP_055661.3:p.(Ser291Asn)	NC_000008.10:g.126087346C>T	VUS	1 lab	fb0c9449b9
2:179583117 TTN G>T	2	179583117	179583117	G	T	TTN	c.24716C>A	NM_001267550.2	NP_001254479.2:p.(Ala8239Glu)	NC_000002.11:g.179583117G>T	(Likely) benign	1 lab	fb0d35df16
7:5336558 SLC29A4 G>GC	7	5336558	5336564	G	GC	SLC29A4	c.620-3dup	NM_153247.4	NP_694979.2:p.?	NC_000007.13:g.5336564dup	(Likely) benign	1 lab	fb0d64b8ab
16:72134987 DHX38 G>A	16	72134987	72134987	G	A	DHX38	c.1281G>A	NM_014003.4	NP_054722.2:p.(Pro427=)	NC_000016.9:g.72134987G>A	(Likely) benign	1 lab	fb0e14efb9
15:48548085 SLC12A1 G>A	15	48548085	48548085	G	A	SLC12A1	c.2020G>A	NM_000338.3	NP_000329.2:p.(Glu674Lys)	NC_000015.9:g.48548085G>A	VUS	1 lab	fb0ebae72d
6:157522181 ARID1B A>G	6	157522181	157522181	A	G	ARID1B	c.4822A>G	NM_001374828.1	NP_001361757.1:p.(Thr1608Ala)	NC_000006.11:g.157522181A>G	(Likely) benign	1 lab	fb102ce51c
14:75567709 NEK9 A>G	14	75567709	75567709	A	G	NEK9	c.1988T>C	NM_033116.6	NP_149107.4:p.(Ile663Thr)	NC_000014.8:g.75567709A>G	VUS	1 lab	fb14c7f8fe
1:2435530 PLCH2 C>A	1	2435530	2435530	C	A	PLCH2	c.3129C>A	NM_014638.4	NP_055453.2:p.(Ser1043Arg)	NC_000001.10:g.2435530C>A	VUS	1 lab	fb15b251e4
2:121736124 GLI2 C>T	2	121736124	121736124	C	T	GLI2	c.1432C>T	NM_001374353.1	NP_001361282.1:p.(Arg478Trp)	NC_000002.11:g.121736124C>T	VUS	1 lab	fb1734ac08
22:31334148 MORC2 T>C	22	31334148	31334148	T	C	MORC2	c.1118A>G	NM_001303256.3	NP_001290185.1:p.(Asn373Ser)	NC_000022.10:g.31334148T>C	VUS	1 lab	fb174ba057
20:10621897 JAG1 A>G	20	10621897	10621897	A	G	JAG1	c.2917-5T>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621897A>G	(Likely) benign	1 lab	fb18ac5b36
6:46976764 ADGRF1 T>G	6	46976764	46976764	T	G	ADGRF1	c.2407A>C	NM_153840.4	NP_722582.2:p.(Thr803Pro)	NC_000006.11:g.46976764T>G	VUS	1 lab	fb1b90af65
3:183669717 ABCC5 A>T	3	183669717	183669717	A	T	ABCC5	c.2742T>A	NM_005688.4	NP_005679.2:p.(Tyr914Ter)	NC_000003.11:g.183669717A>T	VUS	1 lab	fb20812dc1
3:126722204 PLXNA1 G>A	3	126722204	126722204	G	A	PLXNA1	c.1409G>A	NM_032242.4	NP_115618.3:p.(Arg470Gln)	NC_000003.11:g.126722204G>A	(Likely) benign	1 lab	fb231e6b7c
13:32929275 BRCA2 G>T	13	32929275	32929275	G	T	BRCA2	c.7285G>T	NM_000059.4	NP_000050.3:p.(Glu2429Ter)	NC_000013.10:g.32929275G>T	(Likely) pathogenic	1 lab	fb237e2bc0
12:121416731 HNF1A C>T	12	121416731	121416731	C	T	HNF1A	c.160C>T	NM_000545.8	NP_000536.6:p.(Arg54Ter)	NC_000012.11:g.121416731C>T	(Likely) pathogenic	1 lab	fb239a0efa
5:113831715 KCNN2 G>C	5	113831715	113831715	G	C	KCNN2	c.2212G>C	NM_021614.4	NP_067627.3:p.(Gly738Arg)	NC_000005.9:g.113831715G>C	(Likely) benign	1 lab	fb23d25b10
1:22413822 CDC42 G>A	1	22413822	22413822	G	A	CDC42	c.486+463G>A	NM_001791.4	NP_001782.1:p.?	NC_000001.10:g.22413822G>A	(Likely) benign	1 lab	fb2643a61b
9:19369948 DENND4C C>G	9	19369948	19369948	C	G	DENND4C	c.5638C>G	NM_001330640.2	NP_001317569.1:p.(Leu1880Val)	NC_000009.11:g.19369948C>G	VUS	1 lab	fb27dcb537
7:103132396 RELN A>G	7	103132396	103132396	A	G	RELN	c.9443+4T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103132396A>G	(Likely) benign	1 lab	fb285684f4
1:1268344 TAS1R3 T>A	1	1268344	1268344	T	A	TAS1R3	c.1319T>A	NM_152228.3	NP_689414.2:p.(Leu440Gln)	NC_000001.10:g.1268344T>A	VUS	1 lab	fb28c6ec67
2:215633978 BARD1 T>A	2	215633978	215633978	T	A	BARD1	c.1373A>T	NM_000465.4	NP_000456.2:p.(Asp458Val)	NC_000002.11:g.215633978T>A	VUS	1 lab	fb2ac96fcb
6:152804240 SYNE1 G>A	6	152804240	152804240	G	A	SYNE1	c.1330C>T	NM_182961.4	NP_892006.3:p.(Arg444Trp)	NC_000006.11:g.152804240G>A	VUS	1 lab	fb2c5b5b4e
15:89416184 ACAN TGGCACGAGAAG>T	15	89416184	89416198	TGGCACGAGAAG	T	ACAN	c.7379_7389del	NM_001369268.1	NP_001356197.1:p.(His2460ArgfsTer4)	NC_000015.9:g.89416188_89416198del	(Likely) pathogenic	1 lab	fb2d4733f7
12:56713797 PAN2 G>A	12	56713797	56713797	G	A	PAN2	c.2797C>T	NM_014871.6	NP_055686.4:p.(Pro933Ser)	NC_000012.11:g.56713797G>A	VUS	1 lab	fb2ec21586
14:105416660 AHNAK2 A>G	14	105416660	105416660	A	G	AHNAK2	c.5128T>C	NM_138420.4	NP_612429.2:p.(Ser1710Pro)	NC_000014.8:g.105416660A>G	(Likely) benign	1 lab	fb2fac6258
22:45958823 FBLN1 C>T	22	45958823	45958823	C	T	FBLN1	c.1698-11568C>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45958823C>T	(Likely) benign	1 lab	fb314c0dfa
11:67379641 NDUFV1 C>T	11	67379641	67379641	C	T	NDUFV1	c.1213C>T	NM_007103.4	NP_009034.2:p.(Arg405Trp)	NC_000011.9:g.67379641C>T	VUS	1 lab	fb34df2a1f
20:22563606 FOXA2 C>T	20	22563606	22563606	C	T	FOXA2	c.274G>A	NM_021784.5	NP_068556.2:p.(Ala92Thr)	NC_000020.10:g.22563606C>T	VUS	1 lab	fbdc718cae
3:9517405 SETD5 A>G	3	9517405	9517405	A	G	SETD5	c.3959A>G	NM_001080517.3	NP_001073986.1:p.(Tyr1320Cys)	NC_000003.11:g.9517405A>G	(Likely) benign	1 lab	fb3540e8b7
8:27293268 PTK2B ATC>A	8	27293268	27293271	ATC	A	PTK2B	c.1203_1204del	NM_173176.3	NP_775268.1:p.(Tyr402ArgfsTer21)	NC_000008.10:g.27293270_27293271del	VUS	1 lab	fb3610f30f
4:6302759 WFS1 T>G	4	6302759	6302759	T	G	WFS1	c.1237T>G	NM_006005.3	NP_005996.2:p.(Phe413Val)	NC_000004.11:g.6302759T>G	(Likely) benign	1 lab	fb3718b011
9:138675977 KCNT1 C>T	9	138675977	138675977	C	T	KCNT1	c.2943+6C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138675977C>T	(Likely) benign	1 lab	3211aace25
4:123859291 AFG2A A>G	4	123859291	123859291	A	G	AFG2A	c.1345A>G	NM_145207.3	NP_660208.2:p.(Ile449Val)	NC_000004.11:g.123859291A>G	VUS	1 lab	fb37c8b4d9
16:75590143 TMEM231 C>T	16	75590143	75590143	C	T	TMEM231	c.-36G>A	NM_001077418.3	NP_001070886.1:p.?	NC_000016.9:g.75590143C>T	VUS	1 lab	fb3acb1f5a
1:179041182 FAM20B G>A	1	179041182	179041182	G	A	FAM20B	c.1133G>A	NM_014864.4	NP_055679.1:p.(Arg378Gln)	NC_000001.10:g.179041182G>A	VUS	1 lab	fb3b209d72
4:15709203 BST1 C>G	4	15709203	15709203	C	G	BST1	c.385C>G	NM_004334.3	NP_004325.2:p.(Leu129Val)	NC_000004.11:g.15709203C>G	(Likely) benign	1 lab	fb3b5014f8
6:51889953 PKHD1 A>T	6	51889953	51889953	A	T	PKHD1	c.4655T>A	NM_138694.4	NP_619639.3:p.(Val1552Asp)	NC_000006.11:g.51889953A>T	VUS	1 lab	fb3ba8e57a
8:20054931 ATP6V1B2 C>T	8	20054931	20054931	C	T	ATP6V1B2	c.14C>T	NM_001693.4	NP_001684.2:p.(Ala5Val)	NC_000008.10:g.20054931C>T	(Likely) benign	1 lab	fb3d10efd4
2:108626819 SLC5A7 C>T	2	108626819	108626819	C	T	SLC5A7	c.1245C>T	NM_021815.5	NP_068587.1:p.(Ile415=)	NC_000002.11:g.108626819C>T	(Likely) benign	1 lab	fb3e02e70a
7:87021892 CROT G>A	7	87021892	87021892	G	A	CROT	c.1436G>A	NM_021151.4	NP_066974.2:p.(Arg479Gln)	NC_000007.13:g.87021892G>A	(Likely) benign	1 lab	fb3e6e3f15
1:154574444 ADAR G>A	1	154574444	154574444	G	A	ADAR	c.674C>T	NM_001111.5	NP_001102.3:p.(Pro225Leu)	NC_000001.10:g.154574444G>A	(Likely) benign	1 lab	fb410776fc
12:49445028 KMT2D G>A	12	49445028	49445028	G	A	KMT2D	c.2438C>T	NM_003482.4	NP_003473.3:p.(Pro813Leu)	NC_000012.11:g.49445028G>A	(Likely) benign	1 lab	fb431171dc
5:94805598 SKIC3 T>A	5	94805598	94805598	T	A	SKIC3	c.4382A>T	NM_014639.4	NP_055454.1:p.(Asp1461Val)	NC_000005.9:g.94805598T>A	VUS	1 lab	fb43a3edf4
18:6955454 LAMA1 ACAC>A	18	6955454	6955457	ACAC	A	LAMA1	c.8102_8104del	NM_005559.4	NP_005550.2:p.(Cys2701_Val2702delinsLeu)	NC_000018.9:g.6955455_6955457del	VUS	1 lab	d9c5ed0a2d
14:20852398 TEP1 G>A	14	20852398	20852398	G	A	TEP1	c.3340-7C>T	NM_007110.5	NP_009041.2:p.?	NC_000014.8:g.20852398G>A	(Likely) benign	1 lab	fb446a6c20
11:613289 IRF7 C>G	11	613289	613289	C	G	IRF7	c.1154G>C	NM_001572.5	NP_001563.2:p.(Gly385Ala)	NC_000011.9:g.613289C>G	(Likely) benign	1 lab	fb469eb685
16:89257794 CDH15 G>A	16	89257794	89257794	G	A	CDH15	c.1289G>A	NM_004933.3	NP_004924.1:p.(Arg430Gln)	NC_000016.9:g.89257794G>A	(Likely) benign	1 lab	fb46c580b0
9:126414324 DENND1A G>A	9	126414324	126414324	G	A	DENND1A	c.586C>T	NM_001352964.2	NP_001339893.1:p.(Arg196Trp)	NC_000009.11:g.126414324G>A	VUS	1 lab	fb46d16d4a
X:149681131 MAMLD1 C>A	X	149681131	149681131	C	A	MAMLD1	c.*902C>A	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149681131C>A	VUS	1 lab	fb47e63876
16:2158547 PKD1 G>C	16	2158547	2158547	G	C	PKD1	c.6621C>G	NM_001009944.3	NP_001009944.3:p.(Pro2207=)	NC_000016.9:g.2158547G>C	(Likely) benign	1 lab	fb48bb5d1f
8:6793608 DEFA4 T>G	8	6793608	6793608	T	G	DEFA4	c.228A>C	NM_001925.3	NP_001916.1:p.(Glu76Asp)	NC_000008.10:g.6793608T>G	(Likely) benign	1 lab	fb4d56ab80
8:145535875 HSF1 T>C	8	145535875	145535875	T	C	HSF1	c.1087T>C	NM_005526.4	NP_005517.1:p.(Ser363Pro)	NC_000008.10:g.145535875T>C	(Likely) benign	1 lab	fb4e7bed48
1:2234462 SKI A>G	1	2234462	2234462	A	G	SKI	c.1015A>G	NM_003036.4	NP_003027.1:p.(Thr339Ala)	NC_000001.10:g.2234462A>G	VUS	1 lab	fb509c969f
X:135427150 ADGRG4 C>T	X	135427150	135427150	C	T	ADGRG4	c.1285C>T	NM_153834.4	NP_722576.3:p.(Pro429Ser)	NC_000023.10:g.135427150C>T	VUS	1 lab	fb50bc77e5
7:104730514 KMT2E C>T	7	104730514	104730514	C	T	KMT2E	c.1417C>T	NM_182931.3	NP_891847.1:p.(Arg473Cys)	NC_000007.13:g.104730514C>T	(Likely) benign	1 lab	fb50c9bd44
16:1962215 HS3ST6 C>T	16	1962215	1962215	C	T	HS3ST6	c.414-9G>A	NM_001009606.4	NP_001009606.3:p.?	NC_000016.9:g.1962215C>T	(Likely) benign	1 lab	fb50e5f4cc
11:68181377 LRP5 C>G	11	68181377	68181377	C	G	LRP5	c.2724C>G	NM_002335.4	NP_002326.2:p.(His908Gln)	NC_000011.9:g.68181377C>G	(Likely) benign	1 lab	fb517623ef
17:10543680 MYH3 C>T	17	10543680	10543680	C	T	MYH3	c.2396G>A	NM_002470.4	NP_002461.2:p.(Arg799His)	NC_000017.10:g.10543680C>T	(Likely) benign	1 lab	fb52add4c0
14:95570380 DICER1 T>C	14	95570380	95570380	T	C	DICER1	c.3353A>G	NM_177438.3	NP_803187.1:p.(Asn1118Ser)	NC_000014.8:g.95570380T>C	VUS	1 lab	fb53262ddc
5:14488050 TRIO G>A	5	14488050	14488050	G	A	TRIO	c.7313G>A	NM_007118.4	NP_009049.2:p.(Arg2438His)	NC_000005.9:g.14488050G>A	VUS	1 lab	fb541f5596
21:38865398 DYRK1A T>C	21	38865398	38865398	T	C	DYRK1A	c.1004T>C	NM_001347721.2	NP_001334650.1:p.(Met335Thr)	NC_000021.8:g.38865398T>C	VUS	1 lab	fb54d5ef55
5:156469680 HAVCR1 G>A	5	156469680	156469680	G	A	HAVCR1	c.795C>T	NM_001173393.3	NP_001166864.1:p.(Thr265=)	NC_000005.9:g.156469680G>A	VUS	1 lab	fb555a5c38
16:72821709 ZFHX3 A>C	16	72821709	72821709	A	C	ZFHX3	c.10466T>G	NM_006885.4	NP_008816.3:p.(Phe3489Cys)	NC_000016.9:g.72821709A>C	(Likely) benign	1 lab	fb581cc541
6:12749915 PHACTR1 C>T	6	12749915	12749915	C	T	PHACTR1	c.143C>T	NM_030948.6	NP_112210.1:p.(Ala48Val)	NC_000006.11:g.12749915C>T	(Likely) benign	1 lab	fb598b9ac2
X:99944930 SYTL4 G>A	X	99944930	99944930	G	A	SYTL4	c.835C>T	NM_001370165.1	NP_001357094.1:p.(Arg279Cys)	NC_000023.10:g.99944930G>A	VUS	1 lab	fb5a4fbc3f
21:45675997 DNMT3L C>T	21	45675997	45675997	C	T	DNMT3L	c.557G>A	NM_175867.3	NP_787063.1:p.(Arg186Lys)	NC_000021.8:g.45675997C>T	(Likely) benign	1 lab	fb5af6b771
7:5401616 TNRC18 C>G	7	5401616	5401616	C	G	TNRC18	c.4444G>C	NM_001080495.3	NP_001073964.2:p.(Asp1482His)	NC_000007.13:g.5401616C>G	VUS	1 lab	fb5c729e7a
4:88537160 DSPP G>A	4	88537160	88537160	G	A	DSPP	c.3346G>A	NM_014208.3	NP_055023.2:p.(Asp1116Asn)	NC_000004.11:g.88537160G>A	(Likely) benign	1 lab	fb5dd147fb
12:49425349 KMT2D G>A	12	49425349	49425349	G	A	KMT2D	c.13139C>T	NM_003482.4	NP_003473.3:p.(Pro4380Leu)	NC_000012.11:g.49425349G>A	(Likely) benign	1 lab	fb5dd722d9
2:73747131 ALMS1 C>T	2	73747131	73747131	C	T	ALMS1	c.9769C>T	NM_001378454.1	NP_001365383.1:p.(Arg3257Cys)	NC_000002.11:g.73747131C>T	VUS	1 lab	fb6120f4a7
16:2147320 PKD1 C>G	16	2147320	2147320	C	G	PKD1	c.10405G>C	NM_001009944.3	NP_001009944.3:p.(Asp3469His)	NC_000016.9:g.2147320C>G	VUS	1 lab	fb6147939d
10:73551036 CDH23 G>A	10	73551036	73551036	G	A	CDH23	c.6197G>A	NM_022124.6	NP_071407.4:p.(Arg2066Gln)	NC_000010.10:g.73551036G>A	VUS	1 lab	fb61c35e48
1:113657042 LRIG2 C>T	1	113657042	113657042	C	T	LRIG2	c.2081-7C>T	NM_014813.3	NP_055628.1:p.?	NC_000001.10:g.113657042C>T	(Likely) benign	1 lab	fb61e993cf
20:3211577 SLC4A11 A>C	20	3211577	3211577	A	C	SLC4A11	c.1168+2T>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3211577A>C	(Likely) benign	1 lab	fb622d0aef
10:73103969 SLC29A3 T>C	10	73103969	73103969	T	C	SLC29A3	c.304T>C	NM_018344.6	NP_060814.4:p.(Tyr102His)	NC_000010.10:g.73103969T>C	(Likely) benign	1 lab	fb62bbcc1a
22:41566523 EP300 A>G	22	41566523	41566523	A	G	EP300	c.4400A>G	NM_001429.4	NP_001420.2:p.(Tyr1467Cys)	NC_000022.10:g.41566523A>G	VUS	1 lab	fb631ac931
1:31897720 SERINC2 G>A	1	31897720	31897720	G	A	SERINC2	c.392G>A	NM_178865.5	NP_849196.2:p.(Gly131Glu)	NC_000001.10:g.31897720G>A	VUS	1 lab	fb6359817a
15:54435821 UNC13C G>A	15	54435821	54435821	G	A	UNC13C	c.3011G>A	NM_001080534.3	NP_001074003.1:p.(Arg1004Gln)	NC_000015.9:g.54435821G>A	(Likely) benign	1 lab	fb635f10ca
X:16717225 CTPS2 A>G	X	16717225	16717225	A	G	CTPS2	c.167-9T>C	NM_175859.3	NP_787055.1:p.?	NC_000023.10:g.16717225A>G	(Likely) benign	1 lab	fb635fcdee
1:110921553 SLC16A4 G>A	1	110921553	110921553	G	A	SLC16A4	c.952C>T	NM_004696.3	NP_004687.1:p.(Pro318Ser)	NC_000001.10:g.110921553G>A	(Likely) benign	1 lab	fb65dbc653
17:2577566 PAFAH1B1 A>G	17	2577566	2577566	A	G	PAFAH1B1	c.884A>G	NM_000430.4	NP_000421.1:p.(Glu295Gly)	NC_000017.10:g.2577566A>G	VUS	1 lab	fb67fa21c7
1:204438326 PIK3C2B A>C	1	204438326	204438326	A	C	PIK3C2B	c.605T>G	NM_001377334.1	NP_001364263.1:p.(Leu202Arg)	NC_000001.10:g.204438326A>C	(Likely) benign	1 lab	fb68a2be66
2:228758641 DAW1 C>T	2	228758641	228758641	C	T	DAW1	c.440+8C>T	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228758641C>T	(Likely) benign	1 lab	fb68ca7369
9:712130 KANK1 T>G	9	712130	712130	T	G	KANK1	c.1364T>G	NM_015158.5	NP_055973.2:p.(Ile455Ser)	NC_000009.11:g.712130T>G	VUS	1 lab	fb6a15f9b0
9:365574 DOCK8 CT>C	9	365574	365587	CT	C	DOCK8	c.1680-2431del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.365587del	(Likely) benign	1 lab	3214e19ac1
6:39881541 MOCS1 C>T	6	39881541	39881541	C	T	MOCS1	c.622G>A	NM_001358530.2	NP_001345459.1:p.(Glu208Lys)	NC_000006.11:g.39881541C>T	VUS	1 lab	fb6ed97274
6:27107397 H4C9 T>G	6	27107397	27107397	T	G	H4C9	c.310T>G	NM_003495.3	NP_003486.1:p.(Ter104GluextTer4)	NC_000006.11:g.27107397T>G	VUS	1 lab	fb6f28aff2
11:696721 TMEM80 G>A	11	696721	696721	G	A	TMEM80	c.19+875G>A	NM_001042463.3	NP_001035928.3:p.?	NC_000011.9:g.696721G>A	VUS	1 lab	fb701225e2
15:89876827 POLGARF T>TTGCTGC	15	89876827	89876860	T	TTGCTGC	POLGARF	c.208_213dup	NM_001430120.1	NP_001417049.1:p.(Ala70_Ala71dup)	NC_000015.9:g.89876855_89876860dup	VUS	1 lab	fb71d7e621
14:75563926 NEK9 T>C	14	75563926	75563926	T	C	NEK9	c.2050A>G	NM_033116.6	NP_149107.4:p.(Met684Val)	NC_000014.8:g.75563926T>C	VUS	1 lab	fb71eda92f
11:68080431 LRP5 G>A	11	68080431	68080431	G	A	LRP5	c.91+158G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68080431G>A	(Likely) benign	1 lab	fb744bf211
22:19165330 SLC25A1 T>TC	22	19165330	19165333	T	TC	SLC25A1	c.350dup	NM_005984.5	NP_005975.1:p.(Arg118ThrfsTer52)	NC_000022.10:g.19165333dup	VUS	1 lab	fb768a9708
17:78190898 SGSH C>T	17	78190898	78190898	C	T	SGSH	c.182G>A	NM_000199.5	NP_000190.1:p.(Arg61His)	NC_000017.10:g.78190898C>T	VUS	1 lab	fb77a6a3ba
18:72999424 TSHZ1 G>A	18	72999424	72999424	G	A	TSHZ1	c.2062G>A	NM_001308210.2	NP_001295139.1:p.(Gly688Ser)	NC_000018.9:g.72999424G>A	(Likely) benign	1 lab	fb77ef98cd
10:94410222 KIF11 C>G	10	94410222	94410222	C	G	KIF11	c.2987C>G	NM_004523.4	NP_004514.2:p.(Ser996Cys)	NC_000010.10:g.94410222C>G	(Likely) benign	1 lab	fb799c7af4
14:21863496 CHD8 T>A	14	21863496	21863496	T	A	CHD8	c.5143A>T	NM_001170629.2	NP_001164100.1:p.(Met1715Leu)	NC_000014.8:g.21863496T>A	VUS	1 lab	fb79e92ca2
6:157527492 ARID1B TGACGACGAGGAA>T	6	157527492	157527509	TGACGACGAGGAA	T	ARID1B	c.5592_5603del	NM_001374828.1	NP_001361757.1:p.(Asp1864_Asp1867del)	NC_000006.11:g.157527498_157527509del	VUS	1 lab	fb7adb49e8
2:73800213 ALMS1 T>A	2	73800213	73800213	T	A	ALMS1	c.11209T>A	NM_001378454.1	NP_001365383.1:p.(Cys3737Ser)	NC_000002.11:g.73800213T>A	(Likely) benign	1 lab	fb7d610334
17:44952508 WNT9B G>A	17	44952508	44952508	G	A	WNT9B	c.376G>A	NM_003396.3	NP_003387.1:p.(Ala126Thr)	NC_000017.10:g.44952508G>A	(Likely) benign	1 lab	fb7d9120d0
16:83933131 MLYCD C>T	16	83933131	83933131	C	T	MLYCD	c.382C>T	NM_012213.3	NP_036345.2:p.(Arg128Trp)	NC_000016.9:g.83933131C>T	VUS	1 lab	fb7f4a2921
19:11144536 SMARCA4 C>G	19	11144536	11144536	C	G	SMARCA4	c.3868C>G	NM_003072.5	NP_003063.2:p.(Leu1290Val)	NC_000019.9:g.11144536C>G	VUS	1 lab	fb80b3a1f4
10:90984897 LIPA A>T	10	90984897	90984897	A	T	LIPA	c.627T>A	NM_000235.4	NP_000226.2:p.(Cys209Ter)	NC_000010.10:g.90984897A>T	(Likely) pathogenic	1 lab	321c4e2153
19:38948182 RYR1 G>C	19	38948182	38948182	G	C	RYR1	c.1837G>C	NM_000540.3	NP_000531.2:p.(Val613Leu)	NC_000019.9:g.38948182G>C	VUS	1 lab	fbe95a8ed3
9:135946818 CEL C>T	9	135946818	135946818	C	T	CEL	c.1929C>T	NM_001807.6	NP_001798.3:p.(Ser643=)	NC_000009.11:g.135946818C>T	(Likely) benign	1 lab	fb837e6f0c
11:118376062 KMT2A C>T	11	118376062	118376062	C	T	KMT2A	c.9455C>T	NM_001197104.2	NP_001184033.1:p.(Ala3152Val)	NC_000011.9:g.118376062C>T	VUS	1 lab	fb8485a062
5:176638488 NSD1 T>C	5	176638488	176638488	T	C	NSD1	c.3088T>C	NM_022455.5	NP_071900.2:p.(Leu1030=)	NC_000005.9:g.176638488T>C	(Likely) benign	1 lab	fb87fc2892
7:128645158 TNPO3 C>T	7	128645158	128645158	C	T	TNPO3	c.608G>A	NM_012470.4	NP_036602.1:p.(Arg203His)	NC_000007.13:g.128645158C>T	VUS	1 lab	fb886a8b13
4:5642515 EVC2 C>T	4	5642515	5642515	C	T	EVC2	c.1196G>A	NM_147127.5	NP_667338.3:p.(Arg399Gln)	NC_000004.11:g.5642515C>T	VUS	1 lab	fb89814bf7
X:153583083 FLNA C>T	X	153583083	153583083	C	T	FLNA	c.5218-4G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153583083C>T	(Likely) benign	1 lab	fb8d48735a
9:140772403 CACNA1B C>A	9	140772403	140772403	C	A	CACNA1B	c.18C>A	NM_000718.4	NP_000709.1:p.(Asp6Glu)	NC_000009.11:g.140772403C>A	VUS	1 lab	fb8f11a4f0
17:44111658 KANSL1 G>C	17	44111658	44111658	G	C	KANSL1	c.2542-7C>G	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44111658G>C	(Likely) benign	1 lab	fb8f550031
X:48631801 GLOD5 C>T	X	48631801	48631801	C	T	GLOD5	c.433C>T	NM_001080489.3	NP_001073958.2:p.(Arg145Ter)	NC_000023.10:g.48631801C>T	VUS	1 lab	fb8fe10177
6:30617540 C6orf136 A>G	6	30617540	30617540	A	G	C6orf136	c.821A>G	NM_001161376.2	NP_001154848.1:p.(Glu274Gly)	NC_000006.11:g.30617540A>G	VUS	1 lab	fb90d99584
16:602501 CAPN15 C>T	16	602501	602501	C	T	CAPN15	c.2708C>T	NM_005632.3	NP_005623.1:p.(Pro903Leu)	NC_000016.9:g.602501C>T	(Likely) benign	1 lab	fb91612ca9
14:76548706 IFT43 C>T	14	76548706	76548706	C	T	IFT43	c.364C>T	NM_001102564.3	NP_001096034.1:p.(Pro122Ser)	NC_000014.8:g.76548706C>T	VUS	1 lab	fb916c5fe0
10:123279540 FGFR2 C>T	10	123279540	123279540	C	T	FGFR2	c.892G>A	NM_000141.5	NP_000132.3:p.(Gly298Ser)	NC_000010.10:g.123279540C>T	VUS	1 lab	fb9218e8d0
1:94057819 BCAR3 T>C	1	94057819	94057819	T	C	BCAR3	c.486+3A>G	NM_003567.4	NP_003558.1:p.?	NC_000001.10:g.94057819T>C	(Likely) benign	1 lab	fb93db23cc
11:534292 HRAS C>T	11	534292	534292	C	T	HRAS	c.31G>A	NM_005343.4	NP_005334.1:p.(Ala11Thr)	NC_000011.9:g.534292C>T	(Likely) benign	1 lab	fb95e81b48
1:160097563 ATP1A2 G>A	1	160097563	160097563	G	A	ATP1A2	c.970G>A	NM_000702.4	NP_000693.1:p.(Gly324Ser)	NC_000001.10:g.160097563G>A	(Likely) pathogenic	1 lab	fb96c32589
10:124339217 DMBT1 C>T	10	124339217	124339217	C	T	DMBT1	c.803C>T	NM_001377530.1	NP_001364459.1:p.(Ala268Val)	NC_000010.10:g.124339217C>T	VUS	1 lab	fb96ec51cd
X:50377313 SHROOM4 C>T	X	50377313	50377313	C	T	SHROOM4	c.1760G>A	NM_020717.5	NP_065768.2:p.(Arg587His)	NC_000023.10:g.50377313C>T	VUS	1 lab	fb97764445
15:56142851 NEDD4 C>T	15	56142851	56142851	C	T	NEDD4	c.1236G>A	NM_006154.4	NP_006145.2:p.(Val412=)	NC_000015.9:g.56142851C>T	(Likely) benign	1 lab	fb99e81799
14:24646411 REC8 A>AAGC	14	24646411	24646414	A	AAGC	REC8	c.689A>C	NM_001048205.2	NP_001041670.1:p.(Glu230Ala)	NC_000014.8:g.24646412_24646414dup	VUS	1 lab	fb9bae8ea9
22:18901023 PRODH G>T	22	18901023	18901023	G	T	PRODH	c.1543C>A	NM_016335.6	NP_057419.5:p.(Leu515Met)	NC_000022.10:g.18901023G>T	(Likely) benign	1 lab	fb9d03491c
7:105111304 PUS7 G>T	7	105111304	105111304	G	T	PUS7	c.1238-9C>A	NM_019042.5	NP_061915.2:p.?	NC_000007.13:g.105111304G>T	(Likely) benign	1 lab	fb9d5d83af
1:955563 AGRN G>C	1	955563	955563	G	C	AGRN	c.11G>C	NM_198576.4	NP_940978.2:p.(Arg4Pro)	NC_000001.10:g.955563G>C	(Likely) benign	1 lab	fb9f3aa2db
2:234669493 UGT1A1 C>T	2	234669493	234669493	C	T	UGT1A1	c.560C>T	NM_000463.3	NP_000454.1:p.(Pro187Leu)	NC_000002.11:g.234669493C>T	VUS	1 lab	fb9fba1e11
4:85538822 CDS1 A>G	4	85538822	85538822	A	G	CDS1	c.440+8A>G	NM_001263.4	NP_001254.2:p.?	NC_000004.11:g.85538822A>G	(Likely) benign	1 lab	fba0bedf54
16:30736363 SRCAP G>A	16	30736363	30736363	G	A	SRCAP	c.5618G>A	NM_006662.3	NP_006653.2:p.(Arg1873Gln)	NC_000016.9:g.30736363G>A	VUS	1 lab	fba1f2b0b5
1:155450526 ASH1L C>CT	1	155450526	155450534	C	CT	ASH1L	c.2134dup	NM_018489.3	NP_060959.2:p.(Arg712LysfsTer10)	NC_000001.10:g.155450534dup	(Likely) pathogenic	1 lab	fba3304a3a
22:19511720 CLDN5 C>A	22	19511720	19511720	C	A	CLDN5	c.59G>T	NM_001363066.2	NP_001349995.1:p.(Gly20Val)	NC_000022.10:g.19511720C>A	(Likely) benign	1 lab	fba3eb36af
3:183957252 VWA5B2 C>T	3	183957252	183957252	C	T	VWA5B2	c.2273C>T	NM_001390846.1	NP_001377775.1:p.(Ser758Phe)	NC_000003.11:g.183957252C>T	VUS	1 lab	fba46086d7
9:79895060 VPS13A A>T	9	79895060	79895060	A	T	VPS13A	c.2825-15A>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79895060A>T	(Likely) benign	1 lab	d9c712f270
11:44297090 ALX4 G>C	11	44297090	44297090	G	C	ALX4	c.585C>G	NM_021926.4	NP_068745.2:p.(Ser195Arg)	NC_000011.9:g.44297090G>C	VUS	1 lab	fba7196aeb
13:111141808 COL4A2 C>T	13	111141808	111141808	C	T	COL4A2	c.3224C>T	NM_001846.4	NP_001837.2:p.(Pro1075Leu)	NC_000013.10:g.111141808C>T	VUS	1 lab	fba7f93b3c
14:76549865 IFT43 G>A	14	76549865	76549865	G	A	IFT43	c.572G>A	NM_001102564.3	NP_001096034.1:p.(Trp191Ter)	NC_000014.8:g.76549865G>A	VUS	1 lab	fba8507b08
15:89402288 ACAN G>A	15	89402288	89402288	G	A	ACAN	c.6472G>A	NM_001369268.1	NP_001356197.1:p.(Glu2158Lys)	NC_000015.9:g.89402288G>A	VUS	1 lab	fba86f2438
2:113333172 POLR1B C>T	2	113333172	113333172	C	T	POLR1B	c.3274C>T	NM_019014.6	NP_061887.2:p.(Arg1092Cys)	NC_000002.11:g.113333172C>T	(Likely) benign	1 lab	fba8a4366b
22:20785564 SCARF2 C>A	22	20785564	20785564	C	A	SCARF2	c.595G>T	NM_182895.5	NP_878315.2:p.(Ala199Ser)	NC_000022.10:g.20785564C>A	(Likely) benign	1 lab	fba96fe0cd
12:2795749 CACNA1C G>A	12	2795749	2795749	G	A	CACNA1C	c.5784+314G>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2795749G>A	(Likely) benign	1 lab	fbad3cb926
11:17482101 ABCC8 G>A	11	17482101	17482101	G	A	ABCC8	c.945C>T	NM_000352.6	NP_000343.2:p.(Ala315=)	NC_000011.9:g.17482101G>A	(Likely) benign	1 lab	fbb08a22e0
19:45899820 PPP1R13L G>T	19	45899820	45899820	G	T	PPP1R13L	c.695C>A	NM_006663.4	NP_006654.2:p.(Pro232Gln)	NC_000019.9:g.45899820G>T	VUS	1 lab	fbb08e1be4
11:45948053 LARGE2 C>T	11	45948053	45948053	C	T	LARGE2	c.1069C>T	NM_001300721.2	NP_001287650.1:p.(Arg357Cys)	NC_000011.9:g.45948053C>T	(Likely) benign	1 lab	fbb2116d73
2:220421292 OBSL1 A>G	2	220421292	220421292	A	G	OBSL1	c.4220T>C	NM_015311.3	NP_056126.1:p.(Met1407Thr)	NC_000002.11:g.220421292A>G	(Likely) benign	1 lab	fbb34ccbd2
8:98788165 LAPTM4B C>CGGCGGGCTCCAGGCGA	8	98788165	98788186	C	CGGCGGGCTCCAGGCGA	LAPTM4B	c.-67_-52dup	NM_018407.6	NP_060877.4:p.?	NC_000008.10:g.98788171_98788186dup	VUS	1 lab	fbb40de2bb
16:30747667 SRCAP TGAG>T	16	30747667	30747673	TGAG	T	SRCAP	c.6880_6882del	NM_006662.3	NP_006653.2:p.(Glu2294del)	NC_000016.9:g.30747671_30747673del	VUS	1 lab	fbb55d5a86
15:31823009 OTUD7A G>A	15	31823009	31823009	G	A	OTUD7A	c.553C>T	NM_001382637.1	NP_001369566.1:p.(Arg185Cys)	NC_000015.9:g.31823009G>A	VUS	1 lab	fbb6b2e35a
16:89346453 ANKRD11 A>C	16	89346453	89346453	A	C	ANKRD11	c.6497T>G	NM_013275.6	NP_037407.4:p.(Met2166Arg)	NC_000016.9:g.89346453A>C	(Likely) benign	1 lab	fbb6d18b6a
19:1011434 TMEM259 G>T	19	1011434	1011434	G	T	TMEM259	c.1149C>A	NM_001033026.2	NP_001028198.1:p.(Ile383=)	NC_000019.9:g.1011434G>T	(Likely) benign	1 lab	fbb90758f5
3:15672987 BTD T>C	3	15672987	15672987	T	C	BTD	c.-16-3944T>C	NM_001370658.1	NP_001357587.1:p.?	NC_000003.11:g.15672987T>C	(Likely) benign	1 lab	fbb92a7e6c
1:150923260 SETDB1 G>A	1	150923260	150923260	G	A	SETDB1	c.1910G>A	NM_001366418.1	NP_001353347.1:p.(Arg637Gln)	NC_000001.10:g.150923260G>A	VUS	1 lab	fbb97cd9b3
4:6303007 WFS1 C>G	4	6303007	6303007	C	G	WFS1	c.1485C>G	NM_006005.3	NP_005996.2:p.(His495Gln)	NC_000004.11:g.6303007C>G	(Likely) benign	1 lab	fbb9be5e8f
3:122002996 CASR C>A	3	122002996	122002996	C	A	CASR	c.2195C>A	NM_000388.4	NP_000379.3:p.(Thr732Asn)	NC_000003.11:g.122002996C>A	VUS	1 lab	fbb9e2b11b
6:31829082 NEU1 C>T	6	31829082	31829082	C	T	NEU1	c.498G>A	NM_000434.4	NP_000425.1:p.(Val166=)	NC_000006.11:g.31829082C>T	VUS	1 lab	fbcdb53f94
1:155583957 MSTO1 G>C	1	155583957	155583957	G	C	MSTO1	c.1606G>C	NM_018116.4	NP_060586.2:p.(Ala536Pro)	NC_000001.10:g.155583957G>C	VUS	1 lab	fbbaaaa1f8
2:209101893 IDH1 A>C	2	209101893	209101893	A	C	IDH1	c.1155T>G	NM_005896.4	NP_005887.2:p.(Asn385Lys)	NC_000002.11:g.209101893A>C	(Likely) benign	1 lab	fbbcaa8181
15:89876969 POLGARF C>G	15	89876969	89876969	C	G	POLGARF	c.72G>C	NM_001430120.1	NP_001417049.1:p.(Leu24=)	NC_000015.9:g.89876969C>G	VUS	1 lab	fbbcc0919c
19:22363846 ZNF676 A>G	19	22363846	22363846	A	G	ZNF676	c.673T>C	NM_001001411.3	NP_001001411.2:p.(Tyr225His)	NC_000019.9:g.22363846A>G	(Likely) benign	1 lab	fbbd237f4f
3:119128397 ARHGAP31 C>T	3	119128397	119128397	C	T	ARHGAP31	c.1700C>T	NM_020754.4	NP_065805.2:p.(Pro567Leu)	NC_000003.11:g.119128397C>T	(Likely) benign	1 lab	fbbe2cfe0e
1:980849 AGRN C>G	1	980849	980849	C	G	AGRN	c.2482C>G	NM_198576.4	NP_940978.2:p.(Pro828Ala)	NC_000001.10:g.980849C>G	VUS	1 lab	fbc1b9c14f
1:13001159 PRAMEF6 T>C	1	13001159	13001159	T	C	PRAMEF6	c.524A>G	NM_001010889.2	NP_001010889.1:p.(Lys175Arg)	NC_000001.10:g.13001159T>C	(Likely) benign	1 lab	fbc2764733
11:2439024 TRPM5 G>A	11	2439024	2439024	G	A	TRPM5	c.942C>T	NM_014555.4	NP_055370.1:p.(Thr314=)	NC_000011.9:g.2439024G>A	(Likely) benign	1 lab	fbc3db5a89
20:34800252 EPB41L1 C>T	20	34800252	34800252	C	T	EPB41L1	c.2138C>T	NM_012156.2	NP_036288.2:p.(Pro713Leu)	NC_000020.10:g.34800252C>T	(Likely) benign	1 lab	fbc50269da
10:98416557 PIK3AP1 C>A	10	98416557	98416557	C	A	PIK3AP1	c.565G>T	NM_152309.3	NP_689522.2:p.(Gly189Trp)	NC_000010.10:g.98416557C>A	VUS	1 lab	fbc7bfc62b
16:2155983 PKD1 CGTTGCGCTGCCGTT>C	16	2155983	2155998	CGTTGCGCTGCCGTT	C	PKD1	c.7732_7745del	NM_001009944.3	NP_001009944.3:p.(Asn2578GlyfsTer12)	NC_000016.9:g.2155985_2155998del	(Likely) pathogenic	1 lab	fbca05d12a
11:124746366 ROBO3 C>T	11	124746366	124746366	C	T	ROBO3	c.2779+10C>T	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124746366C>T	(Likely) benign	1 lab	fbca88184a
9:135946787 CEL G>A	9	135946787	135946787	G	A	CEL	c.1898G>A	NM_001807.6	NP_001798.3:p.(Gly633Glu)	NC_000009.11:g.135946787G>A	(Likely) benign	1 lab	fbcd22726d
18:7036080 LAMA1 G>A	18	7036080	7036080	G	A	LAMA1	c.1745C>T	NM_005559.4	NP_005550.2:p.(Ala582Val)	NC_000018.9:g.7036080G>A	VUS	1 lab	fbcd8ee4a8
20:36625315 TTI1 C>T	20	36625315	36625315	C	T	TTI1	c.2834G>A	NM_001303457.2	NP_001290386.1:p.(Arg945His)	NC_000020.10:g.36625315C>T	VUS	1 lab	fbcd937382
16:2106670 TSC2 T>C	16	2106670	2106670	T	C	TSC2	c.674T>C	NM_000548.5	NP_000539.2:p.(Val225Ala)	NC_000016.9:g.2106670T>C	VUS	1 lab	fbcf9753c7
17:61908747 PSMC5 A>G	17	61908747	61908747	A	G	PSMC5	c.931A>G	NM_002805.6	NP_002796.4:p.(Ile311Val)	NC_000017.10:g.61908747A>G	VUS	1 lab	fbd2e5b6c6
20:61990903 CHRNA4 G>A	20	61990903	61990903	G	A	CHRNA4	c.225C>T	NM_000744.6	NP_000735.1:p.(Asp75=)	NC_000020.10:g.61990903G>A	(Likely) benign	1 lab	3224f31332
16:79632798 MAF G>C	16	79632798	79632798	G	C	MAF	c.1002C>G	NM_005360.5	NP_005351.2:p.(Ile334Met)	NC_000016.9:g.79632798G>C	(Likely) benign	1 lab	fbd4604d46
10:79613298 DLG5 G>A	10	79613298	79613298	G	A	DLG5	c.681-3C>T	NM_004747.4	NP_004738.3:p.?	NC_000010.10:g.79613298G>A	(Likely) benign	1 lab	fbd465e739
20:34022084 GDF5 G>A	20	34022084	34022084	G	A	GDF5	c.1129C>T	NM_000557.5	NP_000548.2:p.(Arg377Trp)	NC_000020.10:g.34022084G>A	(Likely) pathogenic	1 lab	fbdeafa488
19:45349841 NECTIN2 C>CGCT	19	45349841	45349859	C	CGCT	NECTIN2	c.75_77dup	NM_001042724.2	NP_001036189.1:p.(Leu27dup)	NC_000019.9:g.45349857_45349859dup	VUS	1 lab	fbd712de0f
7:39719999 RALA A>C	7	39719999	39719999	A	C	RALA	c.-37-6231A>C	NM_005402.4	NP_005393.2:p.?	NC_000007.13:g.39719999A>C	(Likely) benign	1 lab	fbd7793de5
17:65890239 BPTF T>G	17	65890239	65890239	T	G	BPTF	c.2501T>G	NM_182641.4	NP_872579.2:p.(Val834Gly)	NC_000017.10:g.65890239T>G	(Likely) benign	1 lab	fbdb2c3061
6:117246606 RFX6 C>T	6	117246606	117246606	C	T	RFX6	c.1679-10C>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117246606C>T	(Likely) benign	1 lab	fbdc98f8fd
20:44050047 PIGT A>G	20	44050047	44050047	A	G	PIGT	c.1058A>G	NM_015937.6	NP_057021.2:p.(His353Arg)	NC_000020.10:g.44050047A>G	VUS	1 lab	fbdce32c38
1:197073175 ASPM G>C	1	197073175	197073175	G	C	ASPM	c.5206C>G	NM_018136.5	NP_060606.3:p.(Gln1736Glu)	NC_000001.10:g.197073175G>C	VUS	1 lab	fbdd7965d7
5:42719468 GHR A>C	5	42719468	42719468	A	C	GHR	c.1859A>C	NM_000163.5	NP_000154.1:p.(Glu620Ala)	NC_000005.9:g.42719468A>C	VUS	1 lab	fc008ee742
16:30995166 SETD1A C>T	16	30995166	30995166	C	T	SETD1A	c.4951-5C>T	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30995166C>T	(Likely) benign	1 lab	fbe10da107
5:140222138 PCDHA1 G>C	5	140222138	140222138	G	C	PCDHA1	c.2394+53869G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140222138G>C	(Likely) benign	1 lab	fbe15cc5d2
1:5950957 NPHP4 G>A	1	5950957	5950957	G	A	NPHP4	c.2275C>T	NM_015102.5	NP_055917.1:p.(Leu759Phe)	NC_000001.10:g.5950957G>A	VUS	1 lab	fbe216baa7
3:130103779 COL6A5 A>G	3	130103779	130103779	A	G	COL6A5	c.1433A>G	NM_001278298.2	NP_001265227.1:p.(Lys478Arg)	NC_000003.11:g.130103779A>G	VUS	1 lab	fbe2542738
9:139390956 NOTCH1 G>A	9	139390956	139390956	G	A	NOTCH1	c.7235C>T	NM_017617.5	NP_060087.3:p.(Pro2412Leu)	NC_000009.11:g.139390956G>A	(Likely) benign	1 lab	fbe27788a3
11:125770090 HYLS1 G>A	11	125770090	125770090	G	A	HYLS1	c.827G>A	NM_001134793.2	NP_001128265.1:p.(Arg276His)	NC_000011.9:g.125770090G>A	VUS	1 lab	fbe32d85d8
2:238274570 COL6A3 C>T	2	238274570	238274570	C	T	COL6A3	c.5609G>A	NM_004369.4	NP_004360.2:p.(Ser1870Asn)	NC_000002.11:g.238274570C>T	VUS	1 lab	fbe5d6bfd4
15:91292929 BLM C>T	15	91292929	91292929	C	T	BLM	c.431C>T	NM_000057.4	NP_000048.1:p.(Ser144Leu)	NC_000015.9:g.91292929C>T	(Likely) benign	1 lab	fbe60cd9ef
19:15302964 NOTCH3 G>C	19	15302964	15302964	G	C	NOTCH3	c.486C>G	NM_000435.3	NP_000426.2:p.(Cys162Trp)	NC_000019.9:g.15302964G>C	(Likely) pathogenic	1 lab	fbe66a6593
2:50318549 NRXN1 C>T	2	50318549	50318549	C	T	NRXN1	c.3630G>A	NM_001330078.2	NP_001317007.1:p.(Gly1210=)	NC_000002.11:g.50318549C>T	(Likely) benign	1 lab	fbe6ad2ad6
1:243327912 CEP170 G>C	1	243327912	243327912	G	C	CEP170	c.3350C>G	NM_014812.3	NP_055627.2:p.(Ala1117Gly)	NC_000001.10:g.243327912G>C	VUS	1 lab	fbe93647d5
3:158362500 GFM1 A>G	3	158362500	158362500	A	G	GFM1	c.77A>G	NM_024996.7	NP_079272.4:p.(Lys26Arg)	NC_000003.11:g.158362500A>G	(Likely) benign	1 lab	fbea5370ba
10:124338275 DMBT1 G>A	10	124338275	124338275	G	A	DMBT1	c.679G>A	NM_001377530.1	NP_001364459.1:p.(Gly227Arg)	NC_000010.10:g.124338275G>A	VUS	1 lab	fbea623fc1
11:73811643 C2CD3 C>T	11	73811643	73811643	C	T	C2CD3	c.2659G>A	NM_001286577.2	NP_001273506.1:p.(Val887Met)	NC_000011.9:g.73811643C>T	(Likely) benign	1 lab	fbea74f4d2
9:125681728 ZBTB26 G>C	9	125681728	125681728	G	C	ZBTB26	c.486C>G	NM_020924.4	NP_065975.1:p.(Asp162Glu)	NC_000009.11:g.125681728G>C	(Likely) benign	1 lab	fbea9147d0
16:15802659 MYH11 C>T	16	15802659	15802659	C	T	MYH11	c.5787-4679G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15802659C>T	(Likely) benign	1 lab	fbecf9a6db
18:2951209 LPIN2 GTC>G	18	2951209	2951214	GTC	G	LPIN2	c.432_433del	NM_001375808.2	NP_001362737.1:p.(Glu144AspfsTer23)	NC_000018.9:g.2951213_2951214del	(Likely) pathogenic	1 lab	fbeedfaaa7
6:148852768 SASH1 G>A	6	148852768	148852768	G	A	SASH1	c.1535G>A	NM_015278.5	NP_056093.3:p.(Arg512His)	NC_000006.11:g.148852768G>A	(Likely) benign	1 lab	fbef5aca8a
X:153050543 SRPK3 C>G	X	153050543	153050543	C	G	SRPK3	c.1434C>G	NM_014370.4	NP_055185.2:p.(Ile478Met)	NC_000023.10:g.153050543C>G	(Likely) benign	1 lab	fbefc8bf8e
8:145002171 PLEC A>G	8	145002171	145002171	A	G	PLEC	c.3261-11T>C	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145002171A>G	(Likely) benign	1 lab	fbf0e2387d
13:28494483 PDX1 G>A	13	28494483	28494483	G	A	PDX1	c.208G>A	NM_000209.4	NP_000200.1:p.(Val70Met)	NC_000013.10:g.28494483G>A	VUS	1 lab	fbf196b631
17:40652829 ATP6V0A1 C>T	17	40652829	40652829	C	T	ATP6V0A1	c.1784C>T	NM_001130021.3	NP_001123493.1:p.(Thr595Met)	NC_000017.10:g.40652829C>T	(Likely) benign	1 lab	fbf3053876
12:121432117 HNF1A G>GC	12	121432117	121432125	G	GC	HNF1A	c.872dup	NM_000545.8	NP_000536.6:p.(Gly292ArgfsTer25)	NC_000012.11:g.121432125dup	(Likely) pathogenic	1 lab	fbf373aa06
16:1561031 IFT140 C>T	16	1561031	1561031	C	T	IFT140	c.4303G>A	NM_014714.4	NP_055529.2:p.(Val1435Ile)	NC_000016.9:g.1561031C>T	(Likely) benign	1 lab	fbf3b6d0d6
9:407024 DOCK8 T>C	9	407024	407024	T	C	DOCK8	c.3485T>C	NM_203447.4	NP_982272.2:p.(Leu1162Pro)	NC_000009.11:g.407024T>C	VUS	1 lab	fbf50fe6ec
8:2024362 MYOM2 G>A	8	2024362	2024362	G	A	MYOM2	c.1262G>A	NM_003970.4	NP_003961.3:p.(Arg421Gln)	NC_000008.10:g.2024362G>A	VUS	1 lab	fbf65c5cd5
3:129305459 PLXND1 C>A	3	129305459	129305459	C	A	PLXND1	c.1592G>T	NM_015103.3	NP_055918.3:p.(Gly531Val)	NC_000003.11:g.129305459C>A	(Likely) benign	1 lab	fbf786f40f
7:87825871 ADAM22 C>T	7	87825871	87825871	C	T	ADAM22	c.*65C>T	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87825871C>T	VUS	1 lab	fbf7c77c7e
8:144906519 PUF60 T>TGCCGCC	8	144906519	144906535	T	TGCCGCC	PUF60	c.69_74dup	NM_078480.3	NP_510965.1:p.(Ala24_Ala25dup)	NC_000008.10:g.144906530_144906535dup	(Likely) benign	1 lab	fbf83c5e58
11:77817853 ALG8 C>T	11	77817853	77817853	C	T	ALG8	c.1178G>A	NM_024079.5	NP_076984.2:p.(Ser393Asn)	NC_000011.9:g.77817853C>T	VUS	1 lab	fbf908cd02
17:7750567 KDM6B G>T	17	7750567	7750567	G	T	KDM6B	c.1054G>T	NM_001348716.2	NP_001335645.1:p.(Ala352Ser)	NC_000017.10:g.7750567G>T	VUS	1 lab	fbfac54f79
7:106938581 COG5 ACATACT>A	7	106938581	106938591	ACATACT	A	COG5	c.1313_1313+5del	NM_006348.5	NP_006339.4:p.?	NC_000007.13:g.106938586_106938591del	(Likely) pathogenic	1 lab	fbfbcd8d3f
9:130988390 DNM1 A>G	9	130988390	130988390	A	G	DNM1	c.1335+1722A>G	NM_004408.4	NP_004399.2:p.?	NC_000009.11:g.130988390A>G	(Likely) benign	1 lab	fbfbde94f8
9:116931437 COL27A1 G>C	9	116931437	116931437	G	C	COL27A1	c.1602G>C	NM_032888.4	NP_116277.2:p.(Lys534Asn)	NC_000009.11:g.116931437G>C	VUS	1 lab	fbfcca397e
5:42695158 GHR G>T	5	42695158	42695158	G	T	GHR	c.406G>T	NM_000163.5	NP_000154.1:p.(Val136Leu)	NC_000005.9:g.42695158G>T	(Likely) benign	1 lab	fbfd412842
10:78761252 KCNMA1 G>A	10	78761252	78761252	G	A	KCNMA1	c.2179C>T	NM_001161352.2	NP_001154824.1:p.(Arg727Cys)	NC_000010.10:g.78761252G>A	(Likely) benign	1 lab	fbfdc59ac4
5:14711322 ANKH C>G	5	14711322	14711322	C	G	ANKH	c.1463G>C	NM_054027.6	NP_473368.1:p.(Arg488Thr)	NC_000005.9:g.14711322C>G	VUS	1 lab	fbfea19365
12:4628048 FERRY3 T>A	12	4628048	4628048	T	A	FERRY3	c.729-2A>T	NM_020374.4	NP_065107.1:p.?	NC_000012.11:g.4628048T>A	VUS	1 lab	fbffefebe7
22:26166074 MYO18B C>T	22	26166074	26166074	C	T	MYO18B	c.1513-3C>T	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26166074C>T	(Likely) benign	1 lab	fc00b734ba
19:12155279 ZNF878 A>G	19	12155279	12155279	A	G	ZNF878	c.937T>C	NM_001080404.3	NP_001073873.2:p.(Cys313Arg)	NC_000019.9:g.12155279A>G	VUS	1 lab	fc01bd4527
2:121744138 GLI2 C>T	2	121744138	121744138	C	T	GLI2	c.2190C>T	NM_001374353.1	NP_001361282.1:p.(Ala730=)	NC_000002.11:g.121744138C>T	(Likely) benign	1 lab	fc034f14d3
3:159996971 IFT80 T>C	3	159996971	159996971	T	C	IFT80	c.1836+10A>G	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.159996971T>C	(Likely) benign	1 lab	fc04877775
1:45973941 MMACHC C>T	1	45973941	45973941	C	T	MMACHC	c.334C>T	NM_015506.3	NP_056321.2:p.(Arg112Cys)	NC_000001.10:g.45973941C>T	VUS	1 lab	fc04e6abbd
1:27023057 ARID1A G>A	1	27023057	27023057	G	A	ARID1A	c.163G>A	NM_006015.6	NP_006006.3:p.(Gly55Arg)	NC_000001.10:g.27023057G>A	VUS	1 lab	fc07b9e494
17:60038305 MED13 C>A	17	60038305	60038305	C	A	MED13	c.5403G>T	NM_005121.3	NP_005112.2:p.(Arg1801Ser)	NC_000017.10:g.60038305C>A	(Likely) benign	1 lab	fc09341f69
8:7191142 USP17L1 C>T	8	7191142	7191142	C	T	USP17L1	c.1234C>T	NM_001256873.1	NP_001243802.1:p.(His412Tyr)	NC_000008.10:g.7191142C>T	VUS	1 lab	fc09ce70e6
19:38929258 RYR1 T>TTC	19	38929258	38929260	T	TTC	RYR1	c.46-2126_46-2125insCT	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38929259_38929260insCT	(Likely) benign	1 lab	fc0aab9a25
15:81517844 IL16 C>G	15	81517844	81517844	C	G	IL16	c.104C>G	NM_172217.5	NP_757366.2:p.(Ser35Cys)	NC_000015.9:g.81517844C>G	VUS	1 lab	fc0b35447f
16:51174598 SALL1 G>A	16	51174598	51174598	G	A	SALL1	c.1535C>T	NM_002968.3	NP_002959.2:p.(Pro512Leu)	NC_000016.9:g.51174598G>A	VUS	1 lab	fc0c35b0e0
19:42126084 CEACAM4 C>T	19	42126084	42126084	C	T	CEACAM4	c.628G>A	NM_001817.4	NP_001808.2:p.(Ala210Thr)	NC_000019.9:g.42126084C>T	(Likely) benign	1 lab	fc0ca9dddc
19:13318282 CACNA1A G>C	19	13318282	13318282	G	C	CACNA1A	c.7366C>G	NM_001127222.2	NP_001120694.1:p.(Arg2456Gly)	NC_000019.9:g.13318282G>C	(Likely) benign	1 lab	fc0d4e739a
14:45624672 FANCM A>G	14	45624672	45624672	A	G	FANCM	c.1396+10A>G	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45624672A>G	(Likely) benign	1 lab	fc0eff8873
19:55677785 DNAAF3 C>T	19	55677785	55677785	C	T	DNAAF3	c.-4G>A	NM_001256715.2	NP_001243644.1:p.?	NC_000019.9:g.55677785C>T	(Likely) benign	1 lab	fc0f972cda
5:60199453 ERCC8 G>A	5	60199453	60199453	G	A	ERCC8	c.550+22C>T	NM_000082.4	NP_000073.1:p.?	NC_000005.9:g.60199453G>A	(Likely) benign	1 lab	fc120ced0b
7:7421206 COL28A1 C>T	7	7421206	7421206	C	T	COL28A1	c.2174G>A	NM_001037763.3	NP_001032852.2:p.(Gly725Asp)	NC_000007.13:g.7421206C>T	VUS	1 lab	fc1254ef82
22:21355576 THAP7 C>G	22	21355576	21355576	C	G	THAP7	c.205G>C	NM_030573.3	NP_085050.2:p.(Glu69Gln)	NC_000022.10:g.21355576C>G	(Likely) benign	1 lab	fc12631af7
4:169342940 DDX60L C>T	4	169342940	169342940	C	T	DDX60L	c.2365G>A	NM_001012967.3	NP_001012985.2:p.(Gly789Arg)	NC_000004.11:g.169342940C>T	VUS	1 lab	fc12a89551
14:59003723 KIAA0586 A>T	14	59003723	59003723	A	T	KIAA0586	c.4430-3066A>T	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003723A>T	(Likely) benign	1 lab	fc12caf9bd
11:377278 B4GALNT4 G>A	11	377278	377278	G	A	B4GALNT4	c.2155G>A	NM_178537.5	NP_848632.2:p.(Val719Met)	NC_000011.9:g.377278G>A	VUS	1 lab	fc14b0d9af
2:168106591 XIRP2 A>C	2	168106591	168106591	A	C	XIRP2	c.8689A>C	NM_152381.6	NP_689594.4:p.(Lys2897Gln)	NC_000002.11:g.168106591A>C	VUS	1 lab	fc14bd0e88
1:201328349 TNNT2 G>T	1	201328349	201328349	G	T	TNNT2	c.856C>A	NM_001276347.2	NP_001263276.1:p.(Arg286Ser)	NC_000001.10:g.201328349G>T	VUS	1 lab	32d05c5d4e
6:31744580 VWA7 C>G	6	31744580	31744580	C	G	VWA7	c.-15-9G>C	NM_025258.3	NP_079534.2:p.?	NC_000006.11:g.31744580C>G	(Likely) benign	1 lab	fc1729924e
1:24175224 FUCA1 C>T	1	24175224	24175224	C	T	FUCA1	c.1075G>A	NM_000147.5	NP_000138.2:p.(Gly359Arg)	NC_000001.10:g.24175224C>T	VUS	1 lab	fc1764f2ad
5:126769144 MEGF10 C>G	5	126769144	126769144	C	G	MEGF10	c.1783C>G	NM_001256545.2	NP_001243474.1:p.(Pro595Ala)	NC_000005.9:g.126769144C>G	VUS	1 lab	fc17b75228
15:68605114 ITGA11 G>A	15	68605114	68605114	G	A	ITGA11	c.2970C>T	NM_001004439.2	NP_001004439.1:p.(Phe990=)	NC_000015.9:g.68605114G>A	(Likely) benign	1 lab	fc18eeb43d
11:74554472 XRRA1 G>A	11	74554472	74554472	G	A	XRRA1	c.2176C>T	NM_001378157.1	NP_001365086.1:p.(Arg726Trp)	NC_000011.9:g.74554472G>A	(Likely) benign	1 lab	fc196ed09d
X:140994437 MAGEC1 T>C	X	140994437	140994437	T	C	MAGEC1	c.1247T>C	NM_005462.5	NP_005453.2:p.(Phe416Ser)	NC_000023.10:g.140994437T>C	VUS	1 lab	fc1a7325e5
10:50854687 CHAT C>T	10	50854687	50854687	C	T	CHAT	c.1248C>T	NM_020549.5	NP_065574.4:p.(Asn416=)	NC_000010.10:g.50854687C>T	(Likely) benign	1 lab	fc1acda393
X:69353398 IGBP1 G>T	X	69353398	69353398	G	T	IGBP1	c.-226+8G>T	NM_001551.3	NP_001542.1:p.?	NC_000023.10:g.69353398G>T	(Likely) benign	1 lab	fc1cfbcbb5
2:27708297 IFT172 C>T	2	27708297	27708297	C	T	IFT172	c.113G>A	NM_015662.3	NP_056477.1:p.(Arg38Gln)	NC_000002.11:g.27708297C>T	VUS	1 lab	fc1d03f741
1:214818432 CENPF C>CA	1	214818432	214818433	C	CA	CENPF	c.5520dup	NM_016343.4	NP_057427.3:p.(Asp1841ArgfsTer4)	NC_000001.10:g.214818433dup	VUS	1 lab	fc1e57a48c
5:171303284 FBXW11 C>T	5	171303284	171303284	C	T	FBXW11	c.1221+5G>A	NM_001378974.1	NP_001365903.1:p.?	NC_000005.9:g.171303284C>T	VUS	1 lab	fc1e59a564
1:160093184 ATP1A2 A>C	1	160093184	160093184	A	C	ATP1A2	c.359A>C	NM_000702.4	NP_000693.1:p.(Glu120Ala)	NC_000001.10:g.160093184A>C	(Likely) pathogenic	1 lab	fc1e8e05ec
14:39512074 SEC23A C>T	14	39512074	39512074	C	T	SEC23A	c.1902G>A	NM_006364.4	NP_006355.2:p.(Pro634=)	NC_000014.8:g.39512074C>T	VUS	1 lab	fc1ea5d8e5
14:20851963 TEP1 G>A	14	20851963	20851963	G	A	TEP1	c.3649C>T	NM_007110.5	NP_009041.2:p.(Arg1217Cys)	NC_000014.8:g.20851963G>A	(Likely) benign	1 lab	fc203246ed
17:15973516 NCOR1 C>T	17	15973516	15973516	C	T	NCOR1	c.4476G>A	NM_006311.4	NP_006302.2:p.(Met1492Ile)	NC_000017.10:g.15973516C>T	(Likely) benign	1 lab	fc2049f9b6
X:75648460 MAGEE1 C>T	X	75648460	75648460	C	T	MAGEE1	c.137C>T	NM_020932.3	NP_065983.1:p.(Pro46Leu)	NC_000023.10:g.75648460C>T	VUS	1 lab	fc28a9e6b0
14:101347281 RTL1 T>G	14	101347281	101347281	T	G	RTL1	c.3845A>C	NM_001134888.3	NP_001128360.1:p.(His1282Pro)	NC_000014.8:g.101347281T>G	VUS	1 lab	fc211c6b65
16:29996795 TAOK2 C>T	16	29996795	29996795	C	T	TAOK2	c.1684C>T	NM_016151.4	NP_057235.2:p.(Arg562Trp)	NC_000016.9:g.29996795C>T	VUS	1 lab	fc21b42c1f
5:176562321 NSD1 C>T	5	176562321	176562321	C	T	NSD1	c.217C>T	NM_022455.5	NP_071900.2:p.(Arg73Trp)	NC_000005.9:g.176562321C>T	(Likely) benign	1 lab	fc2242b2c8
13:73409484 PIBF1 G>A	13	73409484	73409484	G	A	PIBF1	c.1201G>A	NM_006346.4	NP_006337.2:p.(Glu401Lys)	NC_000013.10:g.73409484G>A	VUS	1 lab	fc226cf239
12:2800286 CACNA1C A>ACGCGGGCTGTGTGCG	12	2800286	2800305	A	ACGCGGGCTGTGTGCG	CACNA1C	c.6343_6357dup	NM_000719.7	NP_000710.5:p.(Gly2115_Ala2119dup)	NC_000012.11:g.2800291_2800305dup	(Likely) benign	1 lab	fc22b9e2ac
12:120960091 COQ5 A>C	12	120960091	120960091	A	C	COQ5	c.278T>G	NM_032314.4	NP_115690.3:p.(Val93Gly)	NC_000012.11:g.120960091A>C	VUS	1 lab	fc22d31bfc
2:163136522 IFIH1 G>T	2	163136522	163136522	G	T	IFIH1	c.1625C>A	NM_022168.4	NP_071451.2:p.(Ala542Glu)	NC_000002.11:g.163136522G>T	VUS	1 lab	fc23134e4b
4:5664933 EVC2 G>A	4	5664933	5664933	G	A	EVC2	c.1046C>T	NM_147127.5	NP_667338.3:p.(Thr349Ile)	NC_000004.11:g.5664933G>A	(Likely) benign	1 lab	fc23697984
10:88441214 LDB3 G>C	10	88441214	88441214	G	C	LDB3	c.343G>C	NM_007078.3	NP_009009.1:p.(Gly115Arg)	NC_000010.10:g.88441214G>C	VUS	1 lab	fc23a3493a
X:605194 SHOX G>A	X	605194	605194	G	A	SHOX	c.702G>A	NM_000451.3	NP_000442.1:p.(Ala234=)	NC_000023.10:g.605194G>A	(Likely) benign	1 lab	fc23e5d596
3:39230676 XIRP1 G>A	3	39230676	39230676	G	A	XIRP1	c.261C>T	NM_194293.4	NP_919269.2:p.(Thr87=)	NC_000003.11:g.39230676G>A	(Likely) benign	1 lab	322c00177b
19:42373829 RPS19 G>C	19	42373829	42373829	G	C	RPS19	c.411+6G>C	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42373829G>C	(Likely) benign	1 lab	fc27091cd2
3:57431130 DNAH12 A>G	3	57431130	57431130	A	G	DNAH12	c.4196T>C	NM_001366028.2	NP_001352957.1:p.(Val1399Ala)	NC_000003.11:g.57431130A>G	VUS	1 lab	fc27d4f80e
9:131262512 ODF2 G>A	9	131262512	131262512	G	A	ODF2	c.2717G>A	NM_001351578.2	NP_001338507.1:p.(Arg906His)	NC_000009.11:g.131262512G>A	(Likely) benign	1 lab	fc27e0a812
19:18285896 IFI30 C>T	19	18285896	18285896	C	T	IFI30	c.179C>T	NM_006332.5	NP_006323.2:p.(Pro60Leu)	NC_000019.9:g.18285896C>T	(Likely) benign	1 lab	fc28572189
17:7664257 DNAH2 GGTGAGGGTGGATTGAAA>G	17	7664257	7664276	GGTGAGGGTGGATTGAAA	G	DNAH2	c.2978+10_2978+26del	NM_020877.5	NP_065928.2:p.?	NC_000017.10:g.7664260_7664276del	(Likely) benign	1 lab	fc296d9144
3:39228557 XIRP1 C>T	3	39228557	39228557	C	T	XIRP1	c.2380G>A	NM_194293.4	NP_919269.2:p.(Ala794Thr)	NC_000003.11:g.39228557C>T	(Likely) benign	1 lab	fc29909cfa
19:12760922 MAN2B1 C>T	19	12760922	12760922	C	T	MAN2B1	c.2161G>A	NM_000528.4	NP_000519.2:p.(Val721Met)	NC_000019.9:g.12760922C>T	(Likely) benign	1 lab	fc29c18111
9:37740254 FRMPD1 G>A	9	37740254	37740254	G	A	FRMPD1	c.1729G>A	NM_014907.3	NP_055722.2:p.(Gly577Arg)	NC_000009.11:g.37740254G>A	(Likely) benign	1 lab	fc2bdf5af9
14:23855702 MYH6 C>T	14	23855702	23855702	C	T	MYH6	c.4781G>A	NM_002471.3	NP_002462.2:p.(Arg1594Gln)	NC_000014.8:g.23855702C>T	VUS	1 lab	322f962f29
4:100529921 MTTP A>G	4	100529921	100529921	A	G	MTTP	c.1558-2A>G	NM_001386140.1	NP_001373069.1:p.?	NC_000004.11:g.100529921A>G	(Likely) pathogenic	1 lab	fc2e5d05be
12:7084922 EMG1 C>G	12	7084922	7084922	C	G	EMG1	c.686C>G	NM_006331.8	NP_006322.4:p.(Thr229Ser)	NC_000012.11:g.7084922C>G	VUS	1 lab	fc2e867fe1
7:92078107 GATAD1 C>T	7	92078107	92078107	C	T	GATAD1	c.291C>T	NM_021167.5	NP_066990.3:p.(Asn97=)	NC_000007.13:g.92078107C>T	(Likely) benign	1 lab	323255e05c
1:247587154 NLRP3 C>G	1	247587154	247587154	C	G	NLRP3	c.403C>G	NM_001243133.2	NP_001230062.1:p.(Arg135Gly)	NC_000001.10:g.247587154C>G	(Likely) benign	1 lab	fc30f6efb8
3:9786704 BRPF1 A>G	3	9786704	9786704	A	G	BRPF1	c.2933A>G	NM_001003694.2	NP_001003694.1:p.(Asn978Ser)	NC_000003.11:g.9786704A>G	(Likely) benign	1 lab	fc322bc5ea
X:69479435 P2RY4 G>A	X	69479435	69479435	G	A	P2RY4	c.40C>T	NM_002565.4	NP_002556.1:p.(Leu14Phe)	NC_000023.10:g.69479435G>A	VUS	1 lab	fc3d3b9ff0
2:162280307 TBR1 G>C	2	162280307	162280307	G	C	TBR1	c.1618G>C	NM_006593.4	NP_006584.1:p.(Ala540Pro)	NC_000002.11:g.162280307G>C	(Likely) benign	1 lab	fc333eaf5d
16:2042727 SYNGR3 G>A	16	2042727	2042727	G	A	SYNGR3	c.428G>A	NM_004209.6	NP_004200.2:p.(Gly143Glu)	NC_000016.9:g.2042727G>A	(Likely) benign	1 lab	fc33a43b72
14:105410461 AHNAK2 G>C	14	105410461	105410461	G	C	AHNAK2	c.11327C>G	NM_138420.4	NP_612429.2:p.(Pro3776Arg)	NC_000014.8:g.105410461G>C	(Likely) benign	1 lab	fc341853b3
19:56047667 SBK2 C>T	19	56047667	56047667	C	T	SBK2	c.-2-4G>A	NM_001370096.2	NP_001357025.1:p.?	NC_000019.9:g.56047667C>T	VUS	1 lab	fc345d768f
15:50540510 HDC G>A	15	50540510	50540510	G	A	HDC	c.1072C>T	NM_002112.4	NP_002103.2:p.(Arg358Cys)	NC_000015.9:g.50540510G>A	VUS	1 lab	fd9b4e4c72
7:139285192 HIPK2 C>T	7	139285192	139285192	C	T	HIPK2	c.2406G>A	NM_022740.5	NP_073577.3:p.(Arg802=)	NC_000007.13:g.139285192C>T	(Likely) benign	1 lab	fc3556915a
4:1805434 FGFR3 A>G	4	1805434	1805434	A	G	FGFR3	c.946A>G	NM_000142.5	NP_000133.1:p.(Thr316Ala)	NC_000004.11:g.1805434A>G	VUS	1 lab	fc3739eeba
2:54849433 SPTBN1 C>G	2	54849433	54849433	C	G	SPTBN1	c.877-4C>G	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54849433C>G	(Likely) benign	1 lab	fc376892e9
20:62192235 HELZ2 A>C	20	62192235	62192235	A	C	HELZ2	c.7194T>G	NM_001037335.2	NP_001032412.2:p.(Asn2398Lys)	NC_000020.10:g.62192235A>C	(Likely) benign	1 lab	fc37a1eff9
19:42797110 CIC G>A	19	42797110	42797110	G	A	CIC	c.6199G>A	NM_001386298.1	NP_001373227.1:p.(Gly2067Ser)	NC_000019.9:g.42797110G>A	VUS	1 lab	fc37d2b149
5:14357973 TRIO C>T	5	14357973	14357973	C	T	TRIO	c.2047-314C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14357973C>T	(Likely) benign	1 lab	fc38a27006
19:12962808 MAST1 CTTA>C	19	12962808	12962815	CTTA	C	MAST1	c.840_842del	NM_014975.3	NP_055790.1:p.(Ile282del)	NC_000019.9:g.12962813_12962815del	VUS	1 lab	fc38ce63d2
16:1250279 CACNA1H G>A	16	1250279	1250279	G	A	CACNA1H	c.827G>A	NM_021098.3	NP_066921.2:p.(Arg276Gln)	NC_000016.9:g.1250279G>A	(Likely) benign	1 lab	fc3ab903ce
8:144992770 PLEC T>C	8	144992770	144992770	T	C	PLEC	c.11219A>G	NM_201384.3	NP_958786.1:p.(Glu3740Gly)	NC_000008.10:g.144992770T>C	VUS	1 lab	fc3c0cb846
15:85326148 ZNF592 C>T	15	85326148	85326148	C	T	ZNF592	c.242C>T	NM_014630.3	NP_055445.2:p.(Ala81Val)	NC_000015.9:g.85326148C>T	VUS	1 lab	2f1876aeff
11:72006548 CLPB C>A	11	72006548	72006548	C	A	CLPB	c.1564G>T	NM_030813.6	NP_110440.1:p.(Ala522Ser)	NC_000011.9:g.72006548C>A	VUS	1 lab	2f1a36dac8
2:179518174 TTN G>A	2	179518174	179518174	G	A	TTN	c.38687C>T	NM_001267550.2	NP_001254479.2:p.(Pro12896Leu)	NC_000002.11:g.179518174G>A	VUS	1 lab	fc3e3a39c1
4:164050384 NAF1 G>A	4	164050384	164050384	G	A	NAF1	c.1150C>T	NM_138386.3	NP_612395.2:p.(Arg384Ter)	NC_000004.11:g.164050384G>A	VUS	1 lab	fc3f17a0d1
14:35497294 SRP54 G>A	14	35497294	35497294	G	A	SRP54	c.1328G>A	NM_003136.4	NP_003127.1:p.(Gly443Asp)	NC_000014.8:g.35497294G>A	VUS	1 lab	fc3fa2d09a
17:62050150 SCN4A G>A	17	62050150	62050150	G	A	SCN4A	c.52C>T	NM_000334.4	NP_000325.4:p.(Arg18Cys)	NC_000017.10:g.62050150G>A	(Likely) benign	1 lab	fc3faabe9c
X:53409512 SMC1A A>T	X	53409512	53409512	A	T	SMC1A	c.3200T>A	NM_006306.4	NP_006297.2:p.(Phe1067Tyr)	NC_000023.10:g.53409512A>T	VUS	1 lab	fc4016c3bf
2:71738923 DYSF C>T	2	71738923	71738923	C	T	DYSF	c.346-14C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71738923C>T	(Likely) benign	1 lab	fc4027ad7f
5:127637137 FBN2 C>T	5	127637137	127637137	C	T	FBN2	c.5983G>A	NM_001999.4	NP_001990.2:p.(Gly1995Ser)	NC_000005.9:g.127637137C>T	VUS	1 lab	fc413350cb
18:19348727 MIB1 C>G	18	19348727	19348727	C	G	MIB1	c.531+14C>G	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19348727C>G	(Likely) benign	1 lab	3232bcaba1
3:9785500 BRPF1 T>A	3	9785500	9785500	T	A	BRPF1	c.2550T>A	NM_001003694.2	NP_001003694.1:p.(Ser850Arg)	NC_000003.11:g.9785500T>A	(Likely) benign	1 lab	fc4288e48c
1:9781194 PIK3CD C>G	1	9781194	9781194	C	G	PIK3CD	c.1699C>G	NM_005026.5	NP_005017.3:p.(Leu567Val)	NC_000001.10:g.9781194C>G	VUS	1 lab	fc42bc320d
10:46999865 GPRIN2 C>G	10	46999865	46999865	C	G	GPRIN2	c.985C>G	NM_001385282.1	NP_001372211.1:p.(Pro329Ala)	NC_000010.10:g.46999865C>G	VUS	1 lab	fc45454296
15:89402302 ACAN C>A	15	89402302	89402302	C	A	ACAN	c.6486C>A	NM_001369268.1	NP_001356197.1:p.(Ser2162=)	NC_000015.9:g.89402302C>A	(Likely) benign	1 lab	fc45f20383
22:36695061 MYH9 C>T	22	36695061	36695061	C	T	MYH9	c.3004G>A	NM_002473.6	NP_002464.1:p.(Ala1002Thr)	NC_000022.10:g.36695061C>T	VUS	1 lab	fc469b2faf
9:130984838 DNM1 G>T	9	130984838	130984838	G	T	DNM1	c.1091G>T	NM_004408.4	NP_004399.2:p.(Arg364Leu)	NC_000009.11:g.130984838G>T	VUS	1 lab	fc47566dd9
17:17394676 MED9 C>T	17	17394676	17394676	C	T	MED9	c.308C>T	NM_018019.3	NP_060489.1:p.(Thr103Ile)	NC_000017.10:g.17394676C>T	(Likely) benign	1 lab	fc47d4cd71
2:152370220 NEB T>A	2	152370220	152370220	T	A	NEB	c.23128-13A>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152370220T>A	(Likely) benign	1 lab	fc481ba530
1:152277229 FLG C>T	1	152277229	152277229	C	T	FLG	c.10133G>A	NM_002016.2	NP_002007.1:p.(Gly3378Glu)	NC_000001.10:g.152277229C>T	(Likely) benign	1 lab	fc48997155
3:58095795 FLNB C>T	3	58095795	58095795	C	T	FLNB	c.2382C>T	NM_001457.4	NP_001448.2:p.(Asp794=)	NC_000003.11:g.58095795C>T	(Likely) benign	1 lab	fc495044f6
7:31010792 GHRHR T>C	7	31010792	31010792	T	C	GHRHR	c.425T>C	NM_000823.4	NP_000814.2:p.(Val142Ala)	NC_000007.13:g.31010792T>C	(Likely) benign	1 lab	fc4a7b0022
4:190989290 MISSING T>A	4	190989290	190989290	T	A	MISSING				NC_000004.11:g.190989290T>A	(Likely) benign	1 lab	fc4ab81f99
17:71189266 COG1 G>C	17	71189266	71189266	G	C	COG1	c.58G>C	NM_018714.3	NP_061184.1:p.(Ala20Pro)	NC_000017.10:g.71189266G>C	(Likely) benign	1 lab	fc4c7119da
17:39197525 KRTAP1-1 G>A	17	39197525	39197525	G	A	KRTAP1-1	c.125C>T	NM_030967.3	NP_112229.1:p.(Thr42Ile)	NC_000017.10:g.39197525G>A	VUS	1 lab	fc4d2a8e76
21:47817263 PCNT C>T	21	47817263	47817263	C	T	PCNT	c.4301C>T	NM_006031.6	NP_006022.3:p.(Ser1434Phe)	NC_000021.8:g.47817263C>T	VUS	1 lab	fc4f3c99eb
9:136313816 ADAMTS13 G>A	9	136313816	136313816	G	A	ADAMTS13	c.2828G>A	NM_139027.6	NP_620596.2:p.(Arg943Gln)	NC_000009.11:g.136313816G>A	(Likely) benign	1 lab	fc508b96fa
X:106205333 MORC4 T>C	X	106205333	106205333	T	C	MORC4	c.1165A>G	NM_024657.5	NP_078933.3:p.(Ile389Val)	NC_000023.10:g.106205333T>C	VUS	1 lab	fc50ffdbdb
11:68207296 LRP5 G>A	11	68207296	68207296	G	A	LRP5	c.4400G>A	NM_002335.4	NP_002326.2:p.(Arg1467Gln)	NC_000011.9:g.68207296G>A	VUS	1 lab	fc51b377f7
15:89862284 POLG C>A	15	89862284	89862284	C	A	POLG	c.3151G>T	NM_002693.3	NP_002684.1:p.(Gly1051Trp)	NC_000015.9:g.89862284C>A	VUS	1 lab	fc52407d88
14:95912414 SYNE3 T>A	14	95912414	95912414	T	A	SYNE3	c.1464A>T	NM_152592.6	NP_689805.3:p.(Glu488Asp)	NC_000014.8:g.95912414T>A	(Likely) benign	1 lab	fc52ab92e9
5:68805276 OCLN A>G	5	68805276	68805276	A	G	OCLN	c.359A>G	NM_001205254.2	NP_001192183.1:p.(Tyr120Cys)	NC_000005.9:g.68805276A>G	VUS	1 lab	fc5593b49b
19:13318671 CACNA1A G>GCCT	19	13318671	13318674	G	GCCT	CACNA1A	c.6974_6976dup	NM_001127222.2	NP_001120694.1:p.(Gln2325_Ala2326insGlu)	NC_000019.9:g.13318672_13318674dup	(Likely) benign	1 lab	fc5600d5ba
19:13418672 CACNA1A C>T	19	13418672	13418672	C	T	CACNA1A	c.1914-4G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13418672C>T	(Likely) benign	1 lab	fc573444ae
16:89357134 ANKRD11 C>T	16	89357134	89357134	C	T	ANKRD11	c.500G>A	NM_013275.6	NP_037407.4:p.(Arg167His)	NC_000016.9:g.89357134C>T	(Likely) benign	1 lab	fc58100b26
17:48674097 CACNA1G C>T	17	48674097	48674097	C	T	CACNA1G	c.3071C>T	NM_018896.5	NP_061496.2:p.(Ser1024Phe)	NC_000017.10:g.48674097C>T	VUS	1 lab	fc59fdef38
1:224621736 WDR26 C>CCCGCCGCCCCCTCCTCCTCCACCG	1	224621736	224621768	C	CCCGCCGCCCCCTCCTCCTCCACCG	WDR26	c.348_371dup	NM_001379403.1	NP_001366332.1:p.(Gly118_Gly125dup)	NC_000001.10:g.224621745_224621768dup	VUS	1 lab	fc5a61efcc
16:14355014 MRTFB G>A	16	14355014	14355014	G	A	MRTFB	c.3013G>A	NM_001308142.2	NP_001295071.1:p.(Asp1005Asn)	NC_000016.9:g.14355014G>A	(Likely) benign	1 lab	fc5a99fff3
9:101900330 TGFBR1 G>A	9	101900330	101900330	G	A	TGFBR1	c.764G>A	NM_004612.4	NP_004603.1:p.(Arg255His)	NC_000009.11:g.101900330G>A	(Likely) pathogenic	1 lab	fc5b4aba3e
3:129275492 PLXND1 T>C	3	129275492	129275492	T	C	PLXND1	c.5629A>G	NM_015103.3	NP_055918.3:p.(Ile1877Val)	NC_000003.11:g.129275492T>C	VUS	1 lab	2f1ac3f60c
9:139571430 AGPAT2 G>A	9	139571430	139571430	G	A	AGPAT2	c.475C>T	NM_006412.4	NP_006403.2:p.(Arg159Cys)	NC_000009.11:g.139571430G>A	(Likely) benign	1 lab	fc5f3b9cec
17:73518033 TSEN54 G>A	17	73518033	73518033	G	A	TSEN54	c.871G>A	NM_207346.3	NP_997229.2:p.(Ala291Thr)	NC_000017.10:g.73518033G>A	(Likely) benign	1 lab	fc627ee902
19:38960021 RYR1 G>T	19	38960021	38960021	G	T	RYR1	c.3633G>T	NM_000540.3	NP_000531.2:p.(Arg1211Ser)	NC_000019.9:g.38960021G>T	VUS	1 lab	fc62881dcd
16:20998641 DNAH3 G>A	16	20998641	20998641	G	A	DNAH3	c.6874C>T	NM_001347886.2	NP_001334815.1:p.(Gln2292Ter)	NC_000016.9:g.20998641G>A	(Likely) benign	1 lab	fc650f0f70
3:42680890 NKTR G>A	3	42680890	42680890	G	A	NKTR	c.3694G>A	NM_005385.4	NP_005376.2:p.(Val1232Met)	NC_000003.11:g.42680890G>A	VUS	1 lab	fc658b349b
19:12774531 MAN2B1 G>A	19	12774531	12774531	G	A	MAN2B1	c.749C>T	NM_000528.4	NP_000519.2:p.(Ala250Val)	NC_000019.9:g.12774531G>A	VUS	1 lab	fc6667c34a
15:74337218 PML G>T	15	74337218	74337218	G	T	PML	c.2518G>T	NM_033238.3	NP_150241.2:p.(Ala840Ser)	NC_000015.9:g.74337218G>T	(Likely) benign	1 lab	fc68a48a51
7:128119380 METTL2B G>C	7	128119380	128119380	G	C	METTL2B	c.371G>C	NM_018396.3	NP_060866.2:p.(Cys124Ser)	NC_000007.13:g.128119380G>C	(Likely) benign	1 lab	fc69041587
20:60927080 LAMA5 G>A	20	60927080	60927080	G	A	LAMA5	c.743C>T	NM_005560.6	NP_005551.3:p.(Pro248Leu)	NC_000020.10:g.60927080G>A	VUS	1 lab	fc690e388f
11:67803802 NDUFS8 A>T	11	67803802	67803802	A	T	NDUFS8	c.455A>T	NM_002496.4	NP_002487.1:p.(Tyr152Phe)	NC_000011.9:g.67803802A>T	(Likely) benign	1 lab	fc69634f95
15:59453144 MYO1E G>A	15	59453144	59453144	G	A	MYO1E	c.2785+128C>T	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59453144G>A	(Likely) benign	1 lab	32444563f1
2:232104754 ARMC9 G>A	2	232104754	232104754	G	A	ARMC9	c.879G>A	NM_001352754.2	NP_001339683.2:p.(Thr293=)	NC_000002.11:g.232104754G>A	(Likely) pathogenic	1 lab	fc6bd859f5
11:124766203 ROBO4 C>T	11	124766203	124766203	C	T	ROBO4	c.570G>A	NM_019055.6	NP_061928.4:p.(Gly190=)	NC_000011.9:g.124766203C>T	(Likely) benign	1 lab	fc6c142bd4
17:65942200 BPTF A>C	17	65942200	65942200	A	C	BPTF	c.7376A>C	NM_182641.4	NP_872579.2:p.(Gln2459Pro)	NC_000017.10:g.65942200A>C	(Likely) benign	1 lab	fc6c1e36aa
19:11311698 DOCK6 C>T	19	11311698	11311698	C	T	DOCK6	c.5719G>A	NM_020812.4	NP_065863.2:p.(Glu1907Lys)	NC_000019.9:g.11311698C>T	VUS	1 lab	fc6ccd7987
3:69167934 LMOD3 G>C	3	69167934	69167934	G	C	LMOD3	c.1572C>G	NM_198271.5	NP_938012.2:p.(Asn524Lys)	NC_000003.11:g.69167934G>C	(Likely) benign	1 lab	fc6e71dd8d
4:6279161 WFS1 C>G	4	6279161	6279161	C	G	WFS1	c.-5-17C>G	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6279161C>G	(Likely) benign	1 lab	fc6efd1093
6:29641356 ZFP57 A>G	6	29641356	29641356	A	G	ZFP57	c.532T>C	NM_001109809.5	NP_001103279.2:p.(Tyr178His)	NC_000006.11:g.29641356A>G	(Likely) benign	1 lab	fc6f4c4ddf
4:187539699 FAT1 G>A	4	187539699	187539699	G	A	FAT1	c.8041C>T	NM_005245.4	NP_005236.2:p.(Pro2681Ser)	NC_000004.11:g.187539699G>A	VUS	1 lab	fc713ed93a
19:15290774 NOTCH3 C>T	19	15290774	15290774	C	T	NOTCH3	c.3327+109G>A	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15290774C>T	(Likely) benign	1 lab	fc716dfbad
8:17916951 ASAH1 A>G	8	17916951	17916951	A	G	ASAH1	c.940T>C	NM_177924.5	NP_808592.2:p.(Trp314Arg)	NC_000008.10:g.17916951A>G	VUS	1 lab	fc754bb87e
22:28195117 MN1 G>T	22	28195117	28195117	G	T	MN1	c.1415C>A	NM_002430.3	NP_002421.3:p.(Ser472Ter)	NC_000022.10:g.28195117G>T	VUS	1 lab	fc781bbac8
6:46684222 PLA2G7 C>T	6	46684222	46684222	C	T	PLA2G7	c.275G>A	NM_005084.4	NP_005075.3:p.(Arg92His)	NC_000006.11:g.46684222C>T	(Likely) benign	1 lab	2f1afc4c87
12:89984969 ATP2B1 A>G	12	89984969	89984969	A	G	ATP2B1	c.3455T>C	NM_001366521.1	NP_001353450.1:p.(Ile1152Thr)	NC_000012.11:g.89984969A>G	(Likely) benign	1 lab	fc78bb5684
10:120802187 EIF3A A>T	10	120802187	120802187	A	T	EIF3A	c.2845T>A	NM_003750.4	NP_003741.1:p.(Ser949Thr)	NC_000010.10:g.120802187A>T	(Likely) benign	1 lab	fc79230364
12:112926852 PTPN11 C>T	12	112926852	112926852	C	T	PTPN11	c.1472C>T	NM_002834.5	NP_002825.3:p.(Pro491Leu)	NC_000012.11:g.112926852C>T	(Likely) pathogenic	1 lab	fc7a91cb0b
8:144897527 SCRIB G>C	8	144897527	144897527	G	C	SCRIB	c.16C>G	NM_182706.5	NP_874365.3:p.(Pro6Ala)	NC_000008.10:g.144897527G>C	VUS	1 lab	fc7ba86c9c
17:27860731 TAOK1 C>T	17	27860731	27860731	C	T	TAOK1	c.2362-405C>T	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27860731C>T	(Likely) benign	1 lab	fc7ccef000
1:113659065 LRIG2 ACT>A	1	113659065	113659069	ACT	A	LRIG2	c.2680+10_2680+11del	NM_014813.3	NP_055628.1:p.?	NC_000001.10:g.113659068_113659069del	(Likely) benign	1 lab	fc7ee9773b
2:223158912 PAX3 CTG>C	2	223158912	223158917	CTG	C	PAX3	c.558_559del	NM_181458.4	NP_852123.1:p.(His186GlnfsTer17)	NC_000002.11:g.223158916_223158917del	(Likely) pathogenic	1 lab	fc80e96b32
X:153039486 PLXNB3 C>T	X	153039486	153039486	C	T	PLXNB3	c.3452C>T	NM_005393.3	NP_005384.2:p.(Ala1151Val)	NC_000023.10:g.153039486C>T	VUS	1 lab	fc815f973e
6:157099476 ARID1B A>G	6	157099476	157099476	A	G	ARID1B	c.662A>G	NM_001374828.1	NP_001361757.1:p.(Asn221Ser)	NC_000006.11:g.157099476A>G	(Likely) benign	1 lab	fc8214606b
X:99931103 SYTL4 C>T	X	99931103	99931103	C	T	SYTL4	c.1938G>A	NM_001370165.1	NP_001357094.1:p.(Met646Ile)	NC_000023.10:g.99931103C>T	(Likely) benign	1 lab	fc82ce1296
11:103327014 DYNC2H1 G>A	11	103327014	103327014	G	A	DYNC2H1	c.12578G>A	NM_001377.3	NP_001368.2:p.(Arg4193His)	NC_000011.9:g.103327014G>A	(Likely) benign	1 lab	fc82d32b8c
14:105419226 AHNAK2 G>C	14	105419226	105419226	G	C	AHNAK2	c.2562C>G	NM_138420.4	NP_612429.2:p.(Asp854Glu)	NC_000014.8:g.105419226G>C	VUS	1 lab	fc82f6e122
2:241686696 KIF1A G>A	2	241686696	241686696	G	A	KIF1A	c.3020C>T	NM_001244008.2	NP_001230937.1:p.(Ser1007Leu)	NC_000002.11:g.241686696G>A	VUS	1 lab	fc831a2d47
7:139715531 TBXAS1 G>A	7	139715531	139715531	G	A	TBXAS1	c.1235G>A	NM_001061.7	NP_001052.3:p.(Arg412Gln)	NC_000007.13:g.139715531G>A	VUS	1 lab	fc85fa8d6b
1:216166443 USH2A C>T	1	216166443	216166443	C	T	USH2A	c.6724G>A	NM_206933.4	NP_996816.3:p.(Glu2242Lys)	NC_000001.10:g.216166443C>T	VUS	1 lab	fc8808def3
16:89294948 ZNF778 A>G	16	89294948	89294948	A	G	ZNF778	c.2252A>G	NM_001201407.2	NP_001188336.1:p.(His751Arg)	NC_000016.9:g.89294948A>G	(Likely) benign	1 lab	fc8ab26eca
22:22221708 MAPK1 C>CCCGCCG	22	22221708	22221728	C	CCCGCCG	MAPK1	c.17_22dup	NM_002745.5	NP_002736.3:p.(Ala6_Ala7dup)	NC_000022.10:g.22221723_22221728dup	VUS	1 lab	fc8b4c4320
X:123615669 TENM1 C>A	X	123615669	123615669	C	A	TENM1	c.3862G>T	NM_001163278.2	NP_001156750.1:p.(Gly1288Ter)	NC_000023.10:g.123615669C>A	VUS	1 lab	fc8be53c70
1:36181714 C1orf216 G>C	1	36181714	36181714	G	C	C1orf216	c.209C>G	NM_152374.2	NP_689587.1:p.(Ala70Gly)	NC_000001.10:g.36181714G>C	(Likely) benign	1 lab	fc8c7a1420
13:32914101 BRCA2 T>A	13	32914101	32914101	T	A	BRCA2	c.5609T>A	NM_000059.4	NP_000050.3:p.(Phe1870Tyr)	NC_000013.10:g.32914101T>A	VUS	1 lab	fc8f66ca10
6:41126405 TREM2 A>G	6	41126405	41126405	A	G	TREM2	c.*97T>C	NM_018965.4	NP_061838.1:p.?	NC_000006.11:g.41126405A>G	VUS	1 lab	fdf34ce486
3:195966485 PCYT1A T>C	3	195966485	195966485	T	C	PCYT1A	c.830A>G	NM_001312673.2	NP_001299602.1:p.(Lys277Arg)	NC_000003.11:g.195966485T>C	(Likely) benign	1 lab	fc9060657f
7:146825876 CNTNAP2 G>T	7	146825876	146825876	G	T	CNTNAP2	c.1031G>T	NM_014141.6	NP_054860.1:p.(Gly344Val)	NC_000007.13:g.146825876G>T	VUS	1 lab	fc944a4f8f
2:15493843 NBAS T>C	2	15493843	15493843	T	C	NBAS	c.3932-9A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15493843T>C	VUS	1 lab	fc952f3607
21:47746325 PCNT A>G	21	47746325	47746325	A	G	PCNT	c.89A>G	NM_006031.6	NP_006022.3:p.(Asp30Gly)	NC_000021.8:g.47746325A>G	VUS	1 lab	fc9639756f
13:111358357 CARS2 C>G	13	111358357	111358357	C	G	CARS2	c.84G>C	NM_024537.4	NP_078813.1:p.(Trp28Cys)	NC_000013.10:g.111358357C>G	VUS	1 lab	fc9a162444
X:15364311 VEGFD G>A	X	15364311	15364311	G	A	VEGFD	c.1009C>T	NM_004469.5	NP_004460.1:p.(Arg337Cys)	NC_000023.10:g.15364311G>A	VUS	1 lab	fc9a65baab
14:102466366 DYNC1H1 T>G	14	102466366	102466366	T	G	DYNC1H1	c.3845T>G	NM_001376.5	NP_001367.2:p.(Ile1282Arg)	NC_000014.8:g.102466366T>G	VUS	1 lab	fc9b0f7d40
22:20712119 MISSING TGGCATCGCTAACGAGGTCGCCGCCCACGGCATCGGGAACGAGGACGCTGCCCAGGGCATCGCGAACGAGGACGCCGCCCAG>T	22	20712119	20712233	TGGCATCGCTAACGAGGTCGCCGCCCACGGCATCGGGAACGAGGACGCTGCCCAGGGCATCGCGAACGAGGACGCCGCCCAG	T	MISSING				NC_000022.10:g.20712153_20712233del	(Likely) benign	1 lab	fc9b3ff62c
1:20499353 PLA2G2C T>G	1	20499353	20499353	T	G	PLA2G2C	c.217A>C	NM_001367969.2	NP_001354898.1:p.(Lys73Gln)	NC_000001.10:g.20499353T>G	VUS	1 lab	fc9c7946dc
3:71834158 PROK2 G>A	3	71834158	71834158	G	A	PROK2	c.46C>T	NM_001126128.2	NP_001119600.1:p.(Pro16Ser)	NC_000003.11:g.71834158G>A	VUS	1 lab	fc9d0454a6
9:139401262 NOTCH1 G>A	9	139401262	139401262	G	A	NOTCH1	c.3807C>T	NM_017617.5	NP_060087.3:p.(Asn1269=)	NC_000009.11:g.139401262G>A	(Likely) benign	1 lab	fc9dc2e54c
X:63412030 AMER1 G>T	X	63412030	63412030	G	T	AMER1	c.1137C>A	NM_152424.4	NP_689637.3:p.(Asp379Glu)	NC_000023.10:g.63412030G>T	(Likely) benign	1 lab	fca043942e
3:160037697 IFT80 C>A	3	160037697	160037697	C	A	IFT80	c.808G>T	NM_020800.3	NP_065851.1:p.(Gly270Cys)	NC_000003.11:g.160037697C>A	VUS	1 lab	fca0b94999
10:124248410 HTRA1 G>T	10	124248410	124248410	G	T	HTRA1	c.473-8G>T	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124248410G>T	(Likely) benign	1 lab	fca0dab858
2:47641479 MSH2 G>C	2	47641479	47641479	G	C	MSH2	c.864G>C	NM_000251.3	NP_000242.1:p.(Gln288His)	NC_000002.11:g.47641479G>C	VUS	1 lab	fca39e3a55
6:74405949 CD109 C>G	6	74405949	74405949	C	G	CD109	c.11C>G	NM_133493.5	NP_598000.2:p.(Pro4Arg)	NC_000006.11:g.74405949C>G	(Likely) benign	1 lab	fca3f0c3c6
1:201038610 CACNA1S A>G	1	201038610	201038610	A	G	CACNA1S	c.2480T>C	NM_000069.3	NP_000060.2:p.(Met827Thr)	NC_000001.10:g.201038610A>G	(Likely) benign	1 lab	fca4f17799
1:61892155 NFIA C>T	1	61892155	61892155	C	T	NFIA	c.1439C>T	NM_001134673.4	NP_001128145.1:p.(Thr480Ile)	NC_000001.10:g.61892155C>T	VUS	1 lab	fca614495f
19:50098268 PRR12 C>A	19	50098268	50098268	C	A	PRR12	c.676C>A	NM_020719.3	NP_065770.1:p.(Pro226Thr)	NC_000019.9:g.50098268C>A	VUS	1 lab	fca64f921c
10:69954176 MYPN G>T	10	69954176	69954176	G	T	MYPN	c.2982G>T	NM_032578.4	NP_115967.2:p.(Met994Ile)	NC_000010.10:g.69954176G>T	VUS	1 lab	fca666992b
2:166187895 SCN2A G>A	2	166187895	166187895	G	A	SCN2A	c.2205G>A	NM_001040142.2	NP_001035232.1:p.(Met735Ile)	NC_000002.11:g.166187895G>A	(Likely) benign	1 lab	fca78c908e
19:11069705 SMARCA4 G>C	19	11069705	11069705	G	C	SMARCA4				NC_000019.9:g.11069705G>C	VUS	1 lab	fca7c2327b
8:100789059 VPS13B C>T	8	100789059	100789059	C	T	VPS13B	c.7304C>T	NM_152564.5	NP_689777.3:p.(Ala2435Val)	NC_000008.10:g.100789059C>T	VUS	1 lab	fca91d683b
22:24167518 SMARCB1 T>C	22	24167518	24167518	T	C	SMARCB1	c.902T>C	NM_003073.5	NP_003064.2:p.(Leu301Pro)	NC_000022.10:g.24167518T>C	VUS	1 lab	fca9e2dfdf
1:181687234 CACNA1E G>A	1	181687234	181687234	G	A	CACNA1E	c.1569G>A	NM_001205293.3	NP_001192222.1:p.(Met523Ile)	NC_000001.10:g.181687234G>A	(Likely) benign	1 lab	fcaadb72c3
19:18266937 PIK3R2 TGGCCC>T	19	18266937	18266952	TGGCCC	T	PIK3R2	c.259_263del	NM_005027.4	NP_005018.2:p.(Gly87SerfsTer14)	NC_000019.9:g.18266948_18266952del	VUS	1 lab	fcabaf87cd
12:116457714 MED13L G>C	12	116457714	116457714	G	C	MED13L	c.689C>G	NM_015335.5	NP_056150.1:p.(Pro230Arg)	NC_000012.11:g.116457714G>C	VUS	1 lab	fcb08b8985
8:116616527 TRPS1 C>T	8	116616527	116616527	C	T	TRPS1	c.1669G>A	NM_014112.5	NP_054831.2:p.(Gly557Arg)	NC_000008.10:g.116616527C>T	(Likely) benign	1 lab	fcb0b4ce3b
10:5788197 TASOR2 C>T	10	5788197	5788197	C	T	TASOR2	c.2813C>T	NM_001321783.2	NP_001308712.2:p.(Ser938Leu)	NC_000010.10:g.5788197C>T	(Likely) benign	1 lab	fcb12dda8f
10:79593796 DLG5 T>C	10	79593796	79593796	T	C	DLG5	c.1624A>G	NM_004747.4	NP_004738.3:p.(Thr542Ala)	NC_000010.10:g.79593796T>C	VUS	1 lab	fcb29b1447
1:52729445 ZFYVE9 G>T	1	52729445	52729445	G	T	ZFYVE9	c.2179G>T	NM_004799.4	NP_004790.2:p.(Val727Phe)	NC_000001.10:g.52729445G>T	VUS	1 lab	fcb42b3060
3:184075016 CLCN2 C>T	3	184075016	184075016	C	T	CLCN2	c.937G>A	NM_004366.6	NP_004357.3:p.(Asp313Asn)	NC_000003.11:g.184075016C>T	VUS	1 lab	fcb51a9d99
10:13323026 PHYH C>T	10	13323026	13323026	C	T	PHYH	c.913G>A	NM_006214.4	NP_006205.1:p.(Val305Ile)	NC_000010.10:g.13323026C>T	(Likely) benign	1 lab	fcb6d396d8
15:23890098 MAGEL2 G>A	15	23890098	23890098	G	A	MAGEL2	c.2792C>T	NM_019066.5	NP_061939.3:p.(Ser931Leu)	NC_000015.9:g.23890098G>A	(Likely) benign	1 lab	fcb736f8c8
2:179407787 TTN G>T	2	179407787	179407787	G	T	TTN	c.96904+9C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407787G>T	(Likely) benign	1 lab	fcb8161737
6:7556030 DSP C>T	6	7556030	7556030	C	T	DSP	c.250C>T	NM_004415.4	NP_004406.2:p.(Arg84Ter)	NC_000006.11:g.7556030C>T	(Likely) pathogenic	1 lab	d9c829eb54
1:228334636 GUK1 C>T	1	228334636	228334636	C	T	GUK1	c.311C>T	NM_001159390.2	NP_001152862.1:p.(Thr104Met)	NC_000001.10:g.228334636C>T	VUS	1 lab	fcb9a020ef
12:132329676 MMP17 G>A	12	132329676	132329676	G	A	MMP17	c.982G>A	NM_016155.7	NP_057239.4:p.(Val328Met)	NC_000012.11:g.132329676G>A	VUS	1 lab	fcb9f39851
16:12662448 SNX29 G>A	16	12662448	12662448	G	A	SNX29	c.2404G>A	NM_032167.5	NP_115543.3:p.(Glu802Lys)	NC_000016.9:g.12662448G>A	(Likely) benign	1 lab	fcbae0ec47
19:11361618 DOCK6 G>A	19	11361618	11361618	G	A	DOCK6	c.652C>T	NM_020812.4	NP_065863.2:p.(Arg218Cys)	NC_000019.9:g.11361618G>A	(Likely) benign	1 lab	fcbb36513a
19:8203166 FBN3 G>T	19	8203166	8203166	G	T	FBN3	c.1060C>A	NM_032447.5	NP_115823.3:p.(Pro354Thr)	NC_000019.9:g.8203166G>T	(Likely) benign	1 lab	fcbcd3c8b3
16:2140800 PKD1 G>A	16	2140800	2140800	G	A	PKD1	c.12013C>T	NM_001009944.3	NP_001009944.3:p.(Gln4005Ter)	NC_000016.9:g.2140800G>A	(Likely) pathogenic	1 lab	fcbd38f953
12:115112370 TBX3 G>C	12	115112370	115112370	G	C	TBX3	c.1310C>G	NM_005996.4	NP_005987.3:p.(Pro437Arg)	NC_000012.11:g.115112370G>C	VUS	1 lab	fcbe003e56
19:18899424 COMP G>T	19	18899424	18899424	G	T	COMP	c.739C>A	NM_000095.3	NP_000086.2:p.(Arg247Ser)	NC_000019.9:g.18899424G>T	(Likely) benign	1 lab	fcbeb8748f
X:151821431 GABRQ A>C	X	151821431	151821431	A	C	GABRQ	c.1586A>C	NM_018558.4	NP_061028.3:p.(Glu529Ala)	NC_000023.10:g.151821431A>C	VUS	1 lab	fcbf8386c8
10:49440227 FRMPD2 C>T	10	49440227	49440227	C	T	FRMPD2	c.1099G>A	NM_001018071.4	NP_001018081.4:p.(Val367Ile)	NC_000010.10:g.49440227C>T	(Likely) benign	1 lab	fcc05740bb
5:37014776 NIPBL T>A	5	37014776	37014776	T	A	NIPBL	c.4561-9T>A	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37014776T>A	(Likely) benign	1 lab	fcc12ecaf5
6:157528925 ARID1B T>C	6	157528925	157528925	T	C	ARID1B	c.7019T>C	NM_001374828.1	NP_001361757.1:p.(Leu2340Ser)	NC_000006.11:g.157528925T>C	VUS	1 lab	fcc65826a9
2:179569299 TTN T>A	2	179569299	179569299	T	A	TTN	c.29900A>T	NM_001267550.2	NP_001254479.2:p.(Asp9967Val)	NC_000002.11:g.179569299T>A	VUS	1 lab	fcc8a7fd3d
3:124732739 HEG1 T>A	3	124732739	124732739	T	A	HEG1	c.1684A>T	NM_020733.2	NP_065784.1:p.(Thr562Ser)	NC_000003.11:g.124732739T>A	(Likely) benign	1 lab	fcc8aa737f
19:54652237 CNOT3 G>A	19	54652237	54652237	G	A	CNOT3	c.1249G>A	NM_014516.4	NP_055331.1:p.(Gly417Ser)	NC_000019.9:g.54652237G>A	VUS	1 lab	fcca6e10f0
2:161052759 ITGB6 G>A	2	161052759	161052759	G	A	ITGB6	c.314C>T	NM_000888.5	NP_000879.2:p.(Ala105Val)	NC_000002.11:g.161052759G>A	(Likely) benign	1 lab	fccb6bf062
11:6640098 TPP1 C>A	11	6640098	6640098	C	A	TPP1	c.138G>T	NM_000391.4	NP_000382.3:p.(Glu46Asp)	NC_000011.9:g.6640098C>A	VUS	1 lab	fcccedf91c
6:101053466 ASCC3 C>T	6	101053466	101053466	C	T	ASCC3	c.5155G>A	NM_006828.4	NP_006819.2:p.(Glu1719Lys)	NC_000006.11:g.101053466C>T	VUS	1 lab	fcce71c815
1:145296485 NBPF10 C>T	1	145296485	145296485	C	T	NBPF10	c.407C>T	NM_001302371.3	NP_001289300.1:p.(Pro136Leu)	NC_000001.10:g.145296485C>T	VUS	1 lab	fccef89fbf
3:170819269 TNIK T>A	3	170819269	170819269	T	A	TNIK	c.2560A>T	NM_015028.4	NP_055843.1:p.(Thr854Ser)	NC_000003.11:g.170819269T>A	VUS	1 lab	fcd0ca3e95
10:106937872 SORCS3 G>A	10	106937872	106937872	G	A	SORCS3	c.1950G>A	NM_014978.3	NP_055793.1:p.(Ser650=)	NC_000010.10:g.106937872G>A	(Likely) benign	1 lab	fcd1057447
20:6759410 BMP2 C>T	20	6759410	6759410	C	T	BMP2	c.865C>T	NM_001200.4	NP_001191.1:p.(Arg289Trp)	NC_000020.10:g.6759410C>T	VUS	1 lab	fcd16c8b36
10:13699389 FRMD4A G>A	10	13699389	13699389	G	A	FRMD4A	c.2200C>T	NM_018027.5	NP_060497.3:p.(Arg734Trp)	NC_000010.10:g.13699389G>A	VUS	1 lab	fcd1e6f434
11:18424407 LDHA G>T	11	18424407	18424407	G	T	LDHA	c.439G>T	NM_005566.4	NP_005557.1:p.(Ala147Ser)	NC_000011.9:g.18424407G>T	VUS	1 lab	fcd2dd7dc3
15:93487599 CHD2 C>T	15	93487599	93487599	C	T	CHD2	c.1053-46C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93487599C>T	(Likely) benign	1 lab	3245c2917b
19:7168039 INSR T>C	19	7168039	7168039	T	C	INSR	c.1550A>G	NM_000208.4	NP_000199.2:p.(Glu517Gly)	NC_000019.9:g.7168039T>C	VUS	1 lab	fcd46df974
4:5586400 EVC2 C>T	4	5586400	5586400	C	T	EVC2	c.3007G>A	NM_147127.5	NP_667338.3:p.(Glu1003Lys)	NC_000004.11:g.5586400C>T	VUS	1 lab	fcd476a2c4
16:2156229 PKD1 G>A	16	2156229	2156229	G	A	PKD1	c.7566C>T	NM_001009944.3	NP_001009944.3:p.(Cys2522=)	NC_000016.9:g.2156229G>A	(Likely) benign	1 lab	fcd4c5d242
2:74076487 STAMBP C>T	2	74076487	74076487	C	T	STAMBP	c.743-3C>T	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74076487C>T	VUS	1 lab	fcd591fa4e
17:30293166 SUZ12 C>T	17	30293166	30293166	C	T	SUZ12	c.456C>T	NM_015355.4	NP_056170.2:p.(Ser152=)	NC_000017.10:g.30293166C>T	(Likely) benign	1 lab	fcd5a78b6c
12:49432375 KMT2D G>A	12	49432375	49432375	G	A	KMT2D	c.8764C>T	NM_003482.4	NP_003473.3:p.(Arg2922Trp)	NC_000012.11:g.49432375G>A	(Likely) benign	1 lab	fcd6c66e12
17:41152048 RPL27 G>A	17	41152048	41152048	G	A	RPL27	c.180G>A	NM_000988.5	NP_000979.1:p.(Lys60=)	NC_000017.10:g.41152048G>A	(Likely) benign	1 lab	fcd9187f33
3:58148967 FLNB C>T	3	58148967	58148967	C	T	FLNB	c.7108C>T	NM_001457.4	NP_001448.2:p.(Pro2370Ser)	NC_000003.11:g.58148967C>T	VUS	1 lab	fcda3ff218
12:20774295 PDE3A A>G	12	20774295	20774295	A	G	PDE3A	c.1490A>G	NM_000921.5	NP_000912.3:p.(Tyr497Cys)	NC_000012.11:g.20774295A>G	(Likely) benign	1 lab	fcdaa2a6da
20:61444514 OGFR GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA>G	20	61444514	61444599	GGAGCCCATCGGAGACCCCAGGCCCCAGCCCAGCAGGACCTGCAGGGGACGAGCCAGCCGA	G	OGFR	c.1573_1632del	NM_007346.4	NP_031372.2:p.(Ser525_Pro544del)	NC_000020.10:g.61444540_61444599del	(Likely) benign	1 lab	fcdb032639
5:170338070 RANBP17 T>C	5	170338070	170338070	T	C	RANBP17	c.692T>C	NM_022897.5	NP_075048.1:p.(Ile231Thr)	NC_000005.9:g.170338070T>C	(Likely) benign	1 lab	fcdb9639d6
13:52603217 ALG11 G>A	13	52603217	52603217	G	A	ALG11	c.*491G>A	NM_001004127.3	NP_001004127.2:p.?	NC_000013.10:g.52603217G>A	(Likely) benign	1 lab	fcdc219043
19:41114186 LTBP4 G>A	19	41114186	41114186	G	A	LTBP4	c.1217G>A	NM_001042545.2	NP_001036010.1:p.(Arg406His)	NC_000019.9:g.41114186G>A	(Likely) benign	1 lab	fcdd349319
6:109996871 AK9 C>CA	6	109996871	109996877	C	CA	AK9	c.77dup	NM_001145128.3	NP_001138600.2:p.(Leu26PhefsTer35)	NC_000006.11:g.109996877dup	VUS	1 lab	fcdd506e19
6:70944519 COL9A1 A>C	6	70944519	70944519	A	C	COL9A1	c.2237T>G	NM_001851.6	NP_001842.3:p.(Leu746Arg)	NC_000006.11:g.70944519A>C	VUS	1 lab	fcddabb532
16:88496502 ZNF469 G>T	16	88496502	88496502	G	T	ZNF469	c.2624G>T	NM_001367624.2	NP_001354553.1:p.(Gly875Val)	NC_000016.9:g.88496502G>T	VUS	1 lab	fcde2203b9
17:3431387 TRPV3 T>A	17	3431387	3431387	T	A	TRPV3	c.1435A>T	NM_145068.4	NP_659505.1:p.(Met479Leu)	NC_000017.10:g.3431387T>A	(Likely) benign	1 lab	fcdea864a6
17:16004916 NCOR1 C>T	17	16004916	16004916	C	T	NCOR1	c.2338G>A	NM_006311.4	NP_006302.2:p.(Val780Met)	NC_000017.10:g.16004916C>T	VUS	1 lab	fce04af61b
8:145727034 PPP1R16A C>A	8	145727034	145727034	C	A	PPP1R16A	c.1335C>A	NM_001329443.2	NP_001316372.1:p.(His445Gln)	NC_000008.10:g.145727034C>A	VUS	1 lab	fce1bb3022
15:41657786 NUSAP1 A>C	15	41657786	41657786	A	C	NUSAP1	c.847A>C	NM_016359.5	NP_057443.2:p.(Arg283=)	NC_000015.9:g.41657786A>C	VUS	1 lab	fce22f2c33
5:176637763 NSD1 G>A	5	176637763	176637763	G	A	NSD1	c.2363G>A	NM_022455.5	NP_071900.2:p.(Arg788Gln)	NC_000005.9:g.176637763G>A	(Likely) benign	1 lab	fce23442a9
19:22940732 ZNF99 C>T	19	22940732	22940732	C	T	ZNF99	c.1979G>A	NM_001080409.3	NP_001073878.2:p.(Trp660Ter)	NC_000019.9:g.22940732C>T	(Likely) benign	1 lab	fce2c35eb7
12:46244718 ARID2 A>G	12	46244718	46244718	A	G	ARID2	c.2812A>G	NM_152641.4	NP_689854.2:p.(Thr938Ala)	NC_000012.11:g.46244718A>G	(Likely) benign	1 lab	fce4b36f4f
13:39266211 FREM2 T>C	13	39266211	39266211	T	C	FREM2	c.4730T>C	NM_207361.6	NP_997244.4:p.(Ile1577Thr)	NC_000013.10:g.39266211T>C	(Likely) benign	1 lab	fce9b352ee
7:151884816 KMT2C A>G	7	151884816	151884816	A	G	KMT2C	c.4777T>C	NM_170606.3	NP_733751.2:p.(Ser1593Pro)	NC_000007.13:g.151884816A>G	(Likely) benign	1 lab	fceb14f828
1:16378216 CLCNKB G>A	1	16378216	16378216	G	A	CLCNKB	c.1309G>A	NM_000085.5	NP_000076.2:p.(Gly437Arg)	NC_000001.10:g.16378216G>A	(Likely) pathogenic	1 lab	fcf0b26842
14:68066981 PIGH G>A	14	68066981	68066981	G	A	PIGH	c.-61C>T	NM_004569.5	NP_004560.1:p.?	NC_000014.8:g.68066981G>A	VUS	1 lab	fcf1716b15
12:70963641 PTPRB C>A	12	70963641	70963641	C	A	PTPRB	c.3448G>T	NM_001109754.4	NP_001103224.1:p.(Gly1150Trp)	NC_000012.11:g.70963641C>A	VUS	1 lab	fcf2108d5c
1:243828095 AKT3 T>C	1	243828095	243828095	T	C	AKT3	c.263A>G	NM_005465.7	NP_005456.1:p.(His88Arg)	NC_000001.10:g.243828095T>C	VUS	1 lab	fcf30b2acc
12:100657469 DEPDC4 C>A	12	100657469	100657469	C	A	DEPDC4	c.360G>T	NM_001364818.2	NP_001351747.1:p.(Gly120=)	NC_000012.11:g.100657469C>A	(Likely) benign	1 lab	fcf6b7dd8d
16:19027927 TMC7 T>C	16	19027927	19027927	T	C	TMC7	c.460+7T>C	NM_024847.4	NP_079123.3:p.?	NC_000016.9:g.19027927T>C	(Likely) benign	1 lab	fcf7c4809a
4:6296919 WFS1 G>A	4	6296919	6296919	G	A	WFS1	c.861+3G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6296919G>A	(Likely) benign	1 lab	fcfa961763
3:168838970 MECOM G>A	3	168838970	168838970	G	A	MECOM	c.1006C>T	NM_004991.4	NP_004982.2:p.(Arg336Trp)	NC_000003.11:g.168838970G>A	VUS	1 lab	fcfa9eb4dd
X:3592673 PRKX G>T	X	3592673	3592673	G	T	PRKX	c.301C>A	NM_005044.5	NP_005035.1:p.(Leu101Met)	NC_000023.10:g.3592673G>T	VUS	1 lab	fcfbd05035
11:14490361 COPB1 T>C	11	14490361	14490361	T	C	COPB1	c.2011A>G	NM_001144061.2	NP_001137533.1:p.(Ile671Val)	NC_000011.9:g.14490361T>C	(Likely) benign	1 lab	fcfc59b0ac
5:41019062 MROH2B G>A	5	41019062	41019062	G	A	MROH2B	c.2500C>T	NM_173489.5	NP_775760.3:p.(Arg834Trp)	NC_000005.9:g.41019062G>A	(Likely) benign	1 lab	fcfd37bea1
X:117958301 ZCCHC12 G>T	X	117958301	117958301	G	T	ZCCHC12	c.-291-1G>T	NM_173798.4	NP_776159.1:p.?	NC_000023.10:g.117958301G>T	VUS	1 lab	fcfe4c085a
6:116442263 COL10A1 G>A	6	116442263	116442263	G	A	COL10A1	c.1016C>T	NM_000493.4	NP_000484.2:p.(Pro339Leu)	NC_000006.11:g.116442263G>A	VUS	1 lab	fcff2b4aba
X:131520845 MBNL3 G>C	X	131520845	131520845	G	C	MBNL3	c.772-6C>G	NM_001386889.1	NP_001373818.1:p.?	NC_000023.10:g.131520845G>C	(Likely) benign	1 lab	fd00104246
15:42678375 CAPN3 G>T	15	42678375	42678375	G	T	CAPN3	c.390G>T	NM_000070.3	NP_000061.1:p.(Trp130Cys)	NC_000015.9:g.42678375G>T	(Likely) pathogenic	1 lab	fd018b237b
10:27031420 PDSS1 T>G	10	27031420	27031420	T	G	PDSS1	c.1027-6T>G	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27031420T>G	(Likely) benign	1 lab	fd01f1bfe0
1:196788992 CFHR1 TG>T	1	196788992	196788993	TG	T	CFHR1	c.19del	NM_002113.3	NP_002104.2:p.(Val7Ter)	NC_000001.10:g.196788993del	VUS	1 lab	fd03fbcc3f
5:36971071 NIPBL A>C	5	36971071	36971071	A	C	NIPBL	c.704A>C	NM_133433.4	NP_597677.2:p.(His235Pro)	NC_000005.9:g.36971071A>C	(Likely) benign	1 lab	fd05e23ce3
1:155451888 ASH1L C>T	1	155451888	155451888	C	T	ASH1L	c.773G>A	NM_018489.3	NP_060959.2:p.(Gly258Asp)	NC_000001.10:g.155451888C>T	VUS	1 lab	fd088dfccc
22:50716162 PLXNB2 G>A	22	50716162	50716162	G	A	PLXNB2	c.5054C>T	NM_012401.4	NP_036533.2:p.(Pro1685Leu)	NC_000022.10:g.50716162G>A	VUS	1 lab	fd0993d876
19:623495 POLRMT C>T	19	623495	623495	C	T	POLRMT	c.1249G>A	NM_005035.4	NP_005026.3:p.(Val417Met)	NC_000019.9:g.623495C>T	VUS	1 lab	fd0a25b136
9:429617 DOCK8 C>T	9	429617	429617	C	T	DOCK8	c.4474-85C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.429617C>T	(Likely) benign	1 lab	3247182afd
16:1556276 TELO2 G>A	16	1556276	1556276	G	A	TELO2	c.2072G>A	NM_016111.4	NP_057195.2:p.(Arg691Lys)	NC_000016.9:g.1556276G>A	VUS	1 lab	fd0a6471ef
16:4387353 GLIS2 C>T	16	4387353	4387353	C	T	GLIS2	c.1403C>T	NM_032575.3	NP_115964.2:p.(Thr468Met)	NC_000016.9:g.4387353C>T	(Likely) benign	1 lab	fd0ec4b150
17:26856158 FOXN1 C>T	17	26856158	26856158	C	T	FOXN1	c.746C>T	NM_001369369.1	NP_001356298.1:p.(Ser249Leu)	NC_000017.10:g.26856158C>T	VUS	1 lab	fd0fd99943
1:197168815 ZBTB41 AAACTT>A	1	197168815	197168823	AAACTT	A	ZBTB41	c.784_788del	NM_194314.3	NP_919290.2:p.(Lys262Ter)	NC_000001.10:g.197168819_197168823del	VUS	1 lab	fd10589607
1:19203995 ALDH4A1 C>T	1	19203995	19203995	C	T	ALDH4A1	c.1052G>A	NM_003748.4	NP_003739.2:p.(Cys351Tyr)	NC_000001.10:g.19203995C>T	(Likely) pathogenic	1 lab	2f1d95f8b3
10:125516815 CPXM2 C>A	10	125516815	125516815	C	A	CPXM2	c.1831G>T	NM_198148.3	NP_937791.2:p.(Val611Leu)	NC_000010.10:g.125516815C>A	(Likely) benign	1 lab	fd111b2d6d
2:54857983 SPTBN1 C>T	2	54857983	54857983	C	T	SPTBN1	c.2808-9C>T	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54857983C>T	(Likely) benign	1 lab	fd14307b03
7:89791388 STEAP1 T>C	7	89791388	89791388	T	C	STEAP1	c.758T>C	NM_012449.3	NP_036581.1:p.(Ile253Thr)	NC_000007.13:g.89791388T>C	VUS	1 lab	fd14ae27c1
17:42945216 EFTUD2 C>T	17	42945216	42945216	C	T	EFTUD2	c.1108G>A	NM_004247.4	NP_004238.3:p.(Val370Met)	NC_000017.10:g.42945216C>T	VUS	1 lab	fd173bfc58
2:48036394 FBXO11 T>C	2	48036394	48036394	T	C	FBXO11	c.2458A>G	NM_001190274.2	NP_001177203.1:p.(Met820Val)	NC_000002.11:g.48036394T>C	(Likely) benign	1 lab	fd178a7f77
21:47742628 C21orf58 T>C	21	47742628	47742628	T	C	C21orf58	c.25A>G	NM_058180.5	NP_478060.2:p.(Thr9Ala)	NC_000021.8:g.47742628T>C	VUS	1 lab	fd179dcd7c
1:112525001 KCND3 G>A	1	112525001	112525001	G	A	KCND3	c.348C>T	NM_004980.4	NP_004971.2:p.(Asp116=)	NC_000001.10:g.112525001G>A	(Likely) benign	1 lab	324cc05afb
6:43153831 CUL9 C>A	6	43153831	43153831	C	A	CUL9	c.889C>A	NM_015089.4	NP_055904.1:p.(Gln297Lys)	NC_000006.11:g.43153831C>A	(Likely) benign	1 lab	fd18dafa32
10:103454414 FBXW4 G>A	10	103454414	103454414	G	A	FBXW4	c.449C>T	NM_022039.4	NP_071322.2:p.(Ala150Val)	NC_000010.10:g.103454414G>A	VUS	1 lab	fd1a0d979f
2:121729578 GLI2 G>A	2	121729578	121729578	G	A	GLI2	c.1121G>A	NM_001374353.1	NP_001361282.1:p.(Arg374His)	NC_000002.11:g.121729578G>A	VUS	1 lab	fd1c64b9df
4:39233798 WDR19 A>G	4	39233798	39233798	A	G	WDR19	c.2159A>G	NM_025132.4	NP_079408.3:p.(Asn720Ser)	NC_000004.11:g.39233798A>G	VUS	1 lab	fd1cd64ba3
11:118625603 DDX6 A>C	11	118625603	118625603	A	C	DDX6	c.1277-7T>G	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118625603A>C	(Likely) benign	1 lab	fd1e864169
1:74957869 TNNI3K G>A	1	74957869	74957869	G	A	TNNI3K	c.2270G>A	NM_015978.3	NP_057062.1:p.(Arg757Gln)	NC_000001.10:g.74957869G>A	VUS	1 lab	2f1e5149d8
3:50380357 ZMYND10 C>T	3	50380357	50380357	C	T	ZMYND10	c.692G>A	NM_015896.4	NP_056980.2:p.(Arg231Gln)	NC_000003.11:g.50380357C>T	(Likely) benign	1 lab	fd21774cc2
14:89310177 TTC8 G>A	14	89310177	89310177	G	A	TTC8	c.607G>A	NM_144596.4	NP_653197.2:p.(Glu203Lys)	NC_000014.8:g.89310177G>A	VUS	1 lab	fd217ceefa
17:48433494 XYLT2 G>A	17	48433494	48433494	G	A	XYLT2	c.1354G>A	NM_022167.4	NP_071450.2:p.(Val452Met)	NC_000017.10:g.48433494G>A	VUS	1 lab	fd22d58734
X:53596666 HUWE1 C>G	X	53596666	53596666	C	G	HUWE1	c.6434G>C	NM_031407.7	NP_113584.3:p.(Gly2145Ala)	NC_000023.10:g.53596666C>G	VUS	1 lab	fd25b1270f
15:68521859 CLN6 C>A	15	68521859	68521859	C	A	CLN6	c.64G>T	NM_017882.3	NP_060352.1:p.(Ala22Ser)	NC_000015.9:g.68521859C>A	(Likely) benign	1 lab	fd25baede2
1:161089752 NIT1 G>A	1	161089752	161089752	G	A	NIT1	c.591+10G>A	NM_005600.3	NP_005591.1:p.?	NC_000001.10:g.161089752G>A	(Likely) benign	1 lab	fd264bf039
16:772985 CCDC78 C>T	16	772985	772985	C	T	CCDC78	c.1238G>A	NM_001378030.1	NP_001364959.1:p.(Arg413Gln)	NC_000016.9:g.772985C>T	(Likely) benign	1 lab	fd288fb59d
15:63954188 HERC1 C>T	15	63954188	63954188	C	T	HERC1	c.8934G>A	NM_003922.4	NP_003913.3:p.(Val2978=)	NC_000015.9:g.63954188C>T	(Likely) benign	1 lab	fd2cc918ac
3:48622528 COL7A1 G>A	3	48622528	48622528	G	A	COL7A1	c.3916C>T	NM_000094.4	NP_000085.1:p.(Arg1306Cys)	NC_000003.11:g.48622528G>A	VUS	1 lab	2f1e57d0ca
4:114257118 ANK2 C>T	4	114257118	114257118	C	T	ANK2	c.3496C>T	NM_001148.6	NP_001139.3:p.(Pro1166Ser)	NC_000004.11:g.114257118C>T	VUS	1 lab	fd2d4b7b2c
X:8434384 VCX3B T>C	X	8434384	8434384	T	C	VCX3B	c.701T>C	NM_001001888.4	NP_001001888.3:p.(Leu234Pro)	NC_000023.10:g.8434384T>C	(Likely) benign	1 lab	fd2fe8ea6c
1:17736506 RCC2 C>T	1	17736506	17736506	C	T	RCC2	c.1428G>A	NM_018715.4	NP_061185.1:p.(Gln476=)	NC_000001.10:g.17736506C>T	VUS	1 lab	fd325f422c
7:152111295 KMT2C A>T	7	152111295	152111295	A	T	KMT2C	c.161+21416T>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152111295A>T	(Likely) benign	1 lab	fd338d22ef
2:179470002 TTN G>T	2	179470002	179470002	G	T	TTN	c.53902C>A	NM_001267550.2	NP_001254479.2:p.(Arg17968Ser)	NC_000002.11:g.179470002G>T	VUS	1 lab	fd33e32f48
22:51159900 SHANK3 C>T	22	51159900	51159900	C	T	SHANK3	c.3864C>T	NM_001372044.2	NP_001358973.1:p.(His1288=)	NC_000022.10:g.51159900C>T	VUS	1 lab	fd340f35a5
7:103236900 RELN T>C	7	103236900	103236900	T	C	RELN	c.3539+3A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103236900T>C	(Likely) benign	1 lab	fd35b490fa
19:48205073 BICRA A>G	19	48205073	48205073	A	G	BICRA	c.4084A>G	NM_001394372.1	NP_001381301.1:p.(Thr1362Ala)	NC_000019.9:g.48205073A>G	VUS	1 lab	fd35ffdd1e
9:73151245 TRPM3 T>G	9	73151245	73151245	T	G	TRPM3	c.4784A>C	NM_001366145.2	NP_001353074.1:p.(His1595Pro)	NC_000009.11:g.73151245T>G	(Likely) benign	1 lab	fd3606f6c3
2:145161503 ZEB2 G>GT	2	145161503	145161504	G	GT	ZEB2	c.786dup	NM_014795.4	NP_055610.1:p.(His263ThrfsTer17)	NC_000002.11:g.145161504dup	(Likely) pathogenic	1 lab	fd36155b2c
18:46570448 DYM G>C	18	46570448	46570448	G	C	DYM	c.2152C>G	NM_001353214.3	NP_001340143.1:p.(Leu718Val)	NC_000018.9:g.46570448G>C	VUS	1 lab	fd36dbb894
1:152276762 FLG T>G	1	152276762	152276762	T	G	FLG	c.10600A>C	NM_002016.2	NP_002007.1:p.(Asn3534His)	NC_000001.10:g.152276762T>G	(Likely) benign	1 lab	fd37595a65
16:83932762 MLYCD G>A	16	83932762	83932762	G	A	MLYCD	c.13G>A	NM_012213.3	NP_036345.2:p.(Gly5Arg)	NC_000016.9:g.83932762G>A	VUS	1 lab	fd37e8371c
14:64727362 ESR2 G>GC	14	64727362	64727363	G	GC	ESR2	c.756dup	NM_001437.3	NP_001428.1:p.(Pro253AlafsTer24)	NC_000014.8:g.64727363dup	VUS	1 lab	fd38a4bffc
19:7184651 INSR G>GGAGAGAGAGA	19	7184651	7184672	G	GGAGAGAGAGA	INSR	c.653-13_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184663_7184672dup	(Likely) benign	1 lab	fd3afd5662
1:39854164 MACF1 A>C	1	39854164	39854164	A	C	MACF1	c.15650A>C	NM_001394062.1	NP_001380991.1:p.(Lys5217Thr)	NC_000001.10:g.39854164A>C	(Likely) benign	1 lab	fd3b845f63
1:173822937 DARS2 G>A	1	173822937	173822937	G	A	DARS2	c.1568G>A	NM_018122.5	NP_060592.2:p.(Arg523His)	NC_000001.10:g.173822937G>A	VUS	1 lab	fd3bd26535
12:6707503 CHD4 T>G	12	6707503	6707503	T	G	CHD4	c.1571A>C	NM_001273.5	NP_001264.2:p.(Asp524Ala)	NC_000012.11:g.6707503T>G	(Likely) benign	1 lab	fd3bd5a883
16:53675018 RPGRIP1L G>A	16	53675018	53675018	G	A	RPGRIP1L	c.2885C>T	NM_015272.5	NP_056087.2:p.(Pro962Leu)	NC_000016.9:g.53675018G>A	VUS	1 lab	fd3c7579ad
4:10446165 ZNF518B C>G	4	10446165	10446165	C	G	ZNF518B	c.1788G>C	NM_053042.3	NP_444270.2:p.(Glu596Asp)	NC_000004.11:g.10446165C>G	(Likely) benign	1 lab	fd3dc9d3ee
10:79741327 POLR3A G>C	10	79741327	79741327	G	C	POLR3A	c.3760-10C>G	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79741327G>C	(Likely) benign	1 lab	fd3deba0ca
3:160148419 SMC4 G>A	3	160148419	160148419	G	A	SMC4	c.2828G>A	NM_001002800.3	NP_001002800.1:p.(Arg943His)	NC_000003.11:g.160148419G>A	VUS	1 lab	fd3e098dd6
3:98304319 CPOX G>C	3	98304319	98304319	G	C	CPOX	c.1138C>G	NM_000097.7	NP_000088.3:p.(Gln380Glu)	NC_000003.11:g.98304319G>C	VUS	1 lab	fd3e516dc8
9:135140243 SETX G>C	9	135140243	135140243	G	C	SETX	c.7417C>G	NM_015046.7	NP_055861.3:p.(Leu2473Val)	NC_000009.11:g.135140243G>C	VUS	1 lab	fd3ee0e204
6:111694258 REV3L G>A	6	111694258	111694258	G	A	REV3L	c.5300C>T	NM_001372078.1	NP_001359007.1:p.(Ala1767Val)	NC_000006.11:g.111694258G>A	(Likely) benign	1 lab	fd3f850b1d
19:50364879 PNKP G>A	19	50364879	50364879	G	A	PNKP	c.1372C>T	NM_007254.4	NP_009185.2:p.(Arg458Cys)	NC_000019.9:g.50364879G>A	VUS	1 lab	fd4024df2a
9:37782118 EXOSC3 T>C	9	37782118	37782118	T	C	EXOSC3	c.491A>G	NM_016042.4	NP_057126.2:p.(Tyr164Cys)	NC_000009.11:g.37782118T>C	VUS	1 lab	fd4024e122
16:88926010 TRAPPC2L A>G	16	88926010	88926010	A	G	TRAPPC2L	c.207-61A>G	NM_001318525.2	NP_001305454.1:p.?	NC_000016.9:g.88926010A>G	VUS	1 lab	fd4031e102
X:34961201 FAM47B G>A	X	34961201	34961201	G	A	FAM47B	c.253G>A	NM_152631.3	NP_689844.2:p.(Gly85Ser)	NC_000023.10:g.34961201G>A	(Likely) benign	1 lab	fd41dfc661
17:7749943 KDM6B G>A	17	7749943	7749943	G	A	KDM6B	c.596G>A	NM_001348716.2	NP_001335645.1:p.(Arg199Gln)	NC_000017.10:g.7749943G>A	(Likely) benign	1 lab	fd43829246
X:77913048 RTL3 C>G	X	77913048	77913048	C	G	RTL3	c.870G>C	NM_152694.3	NP_689907.1:p.(Trp290Cys)	NC_000023.10:g.77913048C>G	VUS	1 lab	fd43e3f7a5
1:225592331 LBR C>A	1	225592331	225592331	C	A	LBR	c.1561G>T	NM_002296.4	NP_002287.2:p.(Ala521Ser)	NC_000001.10:g.225592331C>A	VUS	1 lab	fd4400cb1d
8:145006316 PLEC C>T	8	145006316	145006316	C	T	PLEC	c.2064G>A	NM_201384.3	NP_958786.1:p.(Pro688=)	NC_000008.10:g.145006316C>T	(Likely) benign	1 lab	fd440891d1
6:100957415 ASCC3 A>T	6	100957415	100957415	A	T	ASCC3	c.6462-6T>A	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.100957415A>T	(Likely) benign	1 lab	fd4421602d
X:46887416 JADE3 G>C	X	46887416	46887416	G	C	JADE3	c.598G>C	NM_014735.5	NP_055550.1:p.(Asp200His)	NC_000023.10:g.46887416G>C	VUS	1 lab	fd44f52f5a
3:160142671 SMC4 C>A	3	160142671	160142671	C	A	SMC4	c.2342C>A	NM_001002800.3	NP_001002800.1:p.(Ser781Ter)	NC_000003.11:g.160142671C>A	VUS	1 lab	fd459805ac
17:48685362 CACNA1G C>G	17	48685362	48685362	C	G	CACNA1G	c.4687C>G	NM_018896.5	NP_061496.2:p.(Leu1563Val)	NC_000017.10:g.48685362C>G	(Likely) benign	1 lab	fd460deafc
14:64724004 ESR2 A>G	14	64724004	64724004	A	G	ESR2	c.1031T>C	NM_001437.3	NP_001428.1:p.(Met344Thr)	NC_000014.8:g.64724004A>G	VUS	1 lab	fd46465016
21:47545422 COL6A2 C>T	21	47545422	47545422	C	T	COL6A2	c.1860C>T	NM_001849.4	NP_001840.3:p.(Ile620=)	NC_000021.8:g.47545422C>T	(Likely) benign	1 lab	fd4b52d701
17:10600820 SCO1 G>T	17	10600820	10600820	G	T	SCO1	c.5C>A	NM_004589.4	NP_004580.1:p.(Ala2Glu)	NC_000017.10:g.10600820G>T	VUS	1 lab	fd4bb00b4d
1:114682512 SYT6 G>C	1	114682512	114682512	G	C	SYT6	c.237C>G	NM_001253772.2	NP_001240701.1:p.(Leu79=)	NC_000001.10:g.114682512G>C	VUS	1 lab	fd4e3139c5
11:560710 LMNTD2 A>G	11	560710	560710	A	G	LMNTD2	c.7T>C	NM_173573.3	NP_775844.2:p.(Trp3Arg)	NC_000011.9:g.560710A>G	VUS	1 lab	fd4f3caad5
19:55649343 TNNT1 C>A	19	55649343	55649343	C	A	TNNT1	c.487G>T	NM_003283.6	NP_003274.3:p.(Gly163Cys)	NC_000019.9:g.55649343C>A	VUS	1 lab	fd4fd2e72e
8:140630823 KCNK9 C>A	8	140630823	140630823	C	A	KCNK9	c.803G>T	NM_001282534.2	NP_001269463.1:p.(Arg268Leu)	NC_000008.10:g.140630823C>A	VUS	1 lab	fd5174e4ad
17:42940183 EFTUD2 T>C	17	42940183	42940183	T	C	EFTUD2	c.1505A>G	NM_004247.4	NP_004238.3:p.(His502Arg)	NC_000017.10:g.42940183T>C	(Likely) benign	1 lab	fd52bb5bce
3:46939950 PTH1R T>C	3	46939950	46939950	T	C	PTH1R	c.626T>C	NM_000316.3	NP_000307.1:p.(Leu209Pro)	NC_000003.11:g.46939950T>C	VUS	1 lab	fd550f8baa
X:53658561 HUWE1 AGTT>A	X	53658561	53658566	AGTT	A	HUWE1	c.648_650del	NM_031407.7	NP_113584.3:p.(Thr217del)	NC_000023.10:g.53658564_53658566del	VUS	1 lab	fd59fbc9e8
4:151837794 LRBA C>T	4	151837794	151837794	C	T	LRBA	c.742G>A	NM_001364905.1	NP_001351834.1:p.(Asp248Asn)	NC_000004.11:g.151837794C>T	VUS	1 lab	fd5a9a2836
9:98669477 ERCC6L2 C>T	9	98669477	98669477	C	T	ERCC6L2	c.712C>T	NM_020207.7	NP_064592.3:p.(Arg238Cys)	NC_000009.11:g.98669477C>T	VUS	1 lab	2f1e880e6b
17:18918510 SLC5A10 A>ACGGTACGGGGGTGGGGGC	17	18918510	18918529	A	ACGGTACGGGGGTGGGGGC	SLC5A10	c.1241_1241+17dup	NM_001042450.4	NP_001035915.1:p.?	NC_000017.10:g.18918512_18918529dup	VUS	1 lab	fd5b2d7d36
15:74636127 CYP11A1 C>G	15	74636127	74636127	C	G	CYP11A1	c.829+3G>C	NM_000781.3	NP_000772.2:p.?	NC_000015.9:g.74636127C>G	VUS	1 lab	fd5ce87b63
1:22168822 HSPG2 C>T	1	22168822	22168822	C	T	HSPG2	c.8962G>A	NM_005529.7	NP_005520.4:p.(Glu2988Lys)	NC_000001.10:g.22168822C>T	VUS	1 lab	fd5db4b5b9
X:100808226 ARMCX1 G>A	X	100808226	100808226	G	A	ARMCX1	c.313G>A	NM_016608.2	NP_057692.1:p.(Glu105Lys)	NC_000023.10:g.100808226G>A	VUS	1 lab	fd5dcef45d
22:20104492 RANBP1 GGGCCTGTCACAAGGGAAGT>G	22	20104492	20104531	GGGCCTGTCACAAGGGAAGT	G	RANBP1	c.246+560_246+578del	NM_001278639.2	NP_001265568.1:p.?	NC_000022.10:g.20104513_20104531del	VUS	1 lab	fd5eaec9bf
2:113520107 CKAP2L T>C	2	113520107	113520107	T	C	CKAP2L	c.77A>G	NM_152515.5	NP_689728.3:p.(Lys26Arg)	NC_000002.11:g.113520107T>C	(Likely) benign	1 lab	fd61206ab1
15:89403688 ACAN C>T	15	89403688	89403688	C	T	ACAN	c.6946+18C>T	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89403688C>T	(Likely) benign	1 lab	fd61460bfb
4:996518 IDUA A>C	4	996518	996518	A	C	IDUA	c.1190-2A>C	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996518A>C	VUS	1 lab	fd634c8e19
12:52814498 MISSING 52874207>DEL	12	52814498	52874207	52874207	DEL	MISSING				NC_000012.11:g.52814498_52874207del	VUS	1 lab	2f1f4d5658
3:142177792 ATR T>A	3	142177792	142177792	T	A	ATR	c.7503+8A>T	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142177792T>A	VUS	1 lab	fd8b87c547
11:16872832 PLEKHA7 C>T	11	16872832	16872832	C	T	PLEKHA7	c.602G>A	NM_001329630.2	NP_001316559.1:p.(Arg201Gln)	NC_000011.9:g.16872832C>T	(Likely) benign	1 lab	fd6b7ab614
1:22175281 HSPG2 C>T	1	22175281	22175281	C	T	HSPG2	c.7592G>A	NM_005529.7	NP_005520.4:p.(Gly2531Asp)	NC_000001.10:g.22175281C>T	VUS	1 lab	fd6c04c965
3:180337700 CCDC39 T>C	3	180337700	180337700	T	C	CCDC39	c.2057A>G	NM_181426.2	NP_852091.1:p.(Asn686Ser)	NC_000003.11:g.180337700T>C	(Likely) benign	1 lab	fd6d154a4a
2:233345170 ECEL1 G>A	2	233345170	233345170	G	A	ECEL1	c.2167C>T	NM_004826.4	NP_004817.2:p.(Arg723Trp)	NC_000002.11:g.233345170G>A	(Likely) benign	1 lab	fd6fb58287
X:37027136 FAM47C G>A	X	37027136	37027136	G	A	FAM47C	c.653G>A	NM_001013736.3	NP_001013758.1:p.(Gly218Glu)	NC_000023.10:g.37027136G>A	VUS	1 lab	fd729ded1e
13:110850952 COL4A1 C>T	13	110850952	110850952	C	T	COL4A1	c.1147G>A	NM_001845.6	NP_001836.3:p.(Ala383Thr)	NC_000013.10:g.110850952C>T	VUS	1 lab	fd73247b67
12:132446281 EP400 T>C	12	132446281	132446281	T	C	EP400	c.1117T>C	NM_015409.5	NP_056224.3:p.(Tyr373His)	NC_000012.11:g.132446281T>C	(Likely) benign	1 lab	fd736a4c65
17:38975210 KRT10 G>A	17	38975210	38975210	G	A	KRT10	c.1577C>T	NM_000421.5	NP_000412.4:p.(Ser526Phe)	NC_000017.10:g.38975210G>A	VUS	1 lab	fd74535047
3:123016213 ADCY5 C>T	3	123016213	123016213	C	T	ADCY5	c.2917G>A	NM_183357.3	NP_899200.1:p.(Gly973Arg)	NC_000003.11:g.123016213C>T	VUS	1 lab	fd749792f9
17:78024032 CCDC40 G>A	17	78024032	78024032	G	A	CCDC40	c.1109G>A	NM_017950.4	NP_060420.2:p.(Arg370His)	NC_000017.10:g.78024032G>A	(Likely) benign	1 lab	fd76f3e5c2
19:51169815 SHANK1 C>T	19	51169815	51169815	C	T	SHANK1	c.5402G>A	NM_016148.5	NP_057232.2:p.(Arg1801His)	NC_000019.9:g.51169815C>T	(Likely) benign	1 lab	fd7760c1f3
15:72191104 MYO9A T>C	15	72191104	72191104	T	C	MYO9A	c.3740A>G	NM_006901.4	NP_008832.2:p.(Gln1247Arg)	NC_000015.9:g.72191104T>C	(Likely) benign	1 lab	fd7a45b973
7:4824572 AP5Z1 C>T	7	4824572	4824572	C	T	AP5Z1	c.824C>T	NM_014855.3	NP_055670.1:p.(Ser275Leu)	NC_000007.13:g.4824572C>T	VUS	1 lab	fd7a5d642a
11:105774586 GRIA4 C>G	11	105774586	105774586	C	G	GRIA4	c.932C>G	NM_000829.4	NP_000820.4:p.(Thr311Ser)	NC_000011.9:g.105774586C>G	(Likely) benign	1 lab	fd7a6be51c
13:103525694 ERCC5 G>T	13	103525694	103525694	G	T	ERCC5	c.2964+1G>T	NM_000123.4	NP_000114.3:p.?	NC_000013.10:g.103525694G>T	VUS	1 lab	fd7ac724bb
X:147027144 FMR1 C>A	X	147027144	147027144	C	A	FMR1	c.1737+8C>A	NM_002024.6	NP_002015.1:p.?	NC_000023.10:g.147027144C>A	(Likely) benign	1 lab	fd7cea3b56
17:15973748 NCOR1 C>T	17	15973748	15973748	C	T	NCOR1	c.4244G>A	NM_006311.4	NP_006302.2:p.(Arg1415His)	NC_000017.10:g.15973748C>T	(Likely) benign	1 lab	fd7db4944b
7:98579459 TRRAP G>C	7	98579459	98579459	G	C	TRRAP	c.8702G>C	NM_001375524.1	NP_001362453.1:p.(Cys2901Ser)	NC_000007.13:g.98579459G>C	VUS	1 lab	fd7e7d04ec
2:11960590 LPIN1 C>T	2	11960590	11960590	C	T	LPIN1	c.2571C>T	NM_001349206.2	NP_001336135.1:p.(Val857=)	NC_000002.11:g.11960590C>T	VUS	1 lab	fd7f0966e1
4:88537153 DSPP T>A	4	88537153	88537153	T	A	DSPP	c.3339T>A	NM_014208.3	NP_055023.2:p.(Asp1113Glu)	NC_000004.11:g.88537153T>A	(Likely) benign	1 lab	fd7f8cce56
11:47469688 RAPSN C>T	11	47469688	47469688	C	T	RAPSN	c.207G>A	NM_005055.5	NP_005046.2:p.(Gln69=)	NC_000011.9:g.47469688C>T	VUS	1 lab	fd8029fff7
6:142691762 ADGRG6 G>T	6	142691762	142691762	G	T	ADGRG6	c.901G>T	NM_198569.3	NP_940971.2:p.(Val301Phe)	NC_000006.11:g.142691762G>T	VUS	1 lab	fd80baab15
14:74041986 ACOT2 T>A	14	74041986	74041986	T	A	ACOT2	c.1221T>A	NM_006821.6	NP_006812.3:p.(His407Gln)	NC_000014.8:g.74041986T>A	(Likely) benign	1 lab	fd81ccfe7d
7:44153427 AEBP1 A>T	7	44153427	44153427	A	T	AEBP1	c.3044A>T	NM_001129.5	NP_001120.3:p.(Gln1015Leu)	NC_000007.13:g.44153427A>T	(Likely) benign	1 lab	fd83b4c259
19:18899203 COMP C>CA	19	18899203	18899204	C	CA	COMP	c.867+15_867+16insT	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899203_18899204insA	VUS	1 lab	fd857f8e09
8:141445217 TRAPPC9 G>A	8	141445217	141445217	G	A	TRAPPC9	c.853C>T	NM_001160372.4	NP_001153844.1:p.(Arg285Trp)	NC_000008.10:g.141445217G>A	VUS	1 lab	fd8639062e
22:19166138 SLC25A1 A>G	22	19166138	19166138	A	G	SLC25A1	c.49T>C	NM_005984.5	NP_005975.1:p.(Ser17Pro)	NC_000022.10:g.19166138A>G	VUS	1 lab	fd866116c0
9:131397066 DYNC2I2 C>T	9	131397066	131397066	C	T	DYNC2I2	c.1116G>A	NM_052844.3	NP_443076.2:p.(Thr372=)	NC_000009.11:g.131397066C>T	(Likely) benign	1 lab	325e67aeb3
1:119427717 TBX15 C>T	1	119427717	119427717	C	T	TBX15	c.1447G>A	NM_001330677.2	NP_001317606.1:p.(Ala483Thr)	NC_000001.10:g.119427717C>T	VUS	1 lab	fd89cbb076
6:117198990 RFX6 TGAA>T	6	117198990	117198998	TGAA	T	RFX6	c.261_263del	NM_173560.4	NP_775831.2:p.(Glu88del)	NC_000006.11:g.117198996_117198998del	VUS	1 lab	fd8a3f1641
19:13409595 CACNA1A G>A	19	13409595	13409595	G	A	CACNA1A	c.2852C>T	NM_001127222.2	NP_001120694.1:p.(Ala951Val)	NC_000019.9:g.13409595G>A	VUS	1 lab	fd8b4a39d0
2:128180621 PROC T>C	2	128180621	128180621	T	C	PROC	c.274T>C	NM_000312.4	NP_000303.1:p.(Cys92Arg)	NC_000002.11:g.128180621T>C	(Likely) pathogenic	1 lab	fd8c4c8d33
15:89416189 ACAN C>T	15	89416189	89416189	C	T	ACAN	c.7380C>T	NM_001369268.1	NP_001356197.1:p.(His2460=)	NC_000015.9:g.89416189C>T	(Likely) benign	1 lab	fd8cca134a
2:219922135 IHH G>A	2	219922135	219922135	G	A	IHH	c.577+20C>T	NM_002181.4	NP_002172.2:p.?	NC_000002.11:g.219922135G>A	(Likely) benign	1 lab	fd8db9c71a
20:21686508 PAX1 C>A	20	21686508	21686508	C	A	PAX1	c.158C>A	NM_001257096.2	NP_001244025.1:p.(Ser53Ter)	NC_000020.10:g.21686508C>A	VUS	1 lab	fd8df6cd89
12:111785322 CUX2 C>T	12	111785322	111785322	C	T	CUX2	c.3660-6C>T	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111785322C>T	(Likely) benign	1 lab	fd8ead3b95
14:102378821 PPP2R5C A>C	14	102378821	102378821	A	C	PPP2R5C	c.1491+11A>C	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102378821A>C	(Likely) benign	1 lab	fd9b7db168
7:27224218 HOXA11 A>AGCCGCC	7	27224218	27224235	A	AGCCGCC	HOXA11	c.540_545dup	NM_005523.6	NP_005514.1:p.(Ala182_Ala183dup)	NC_000007.13:g.27224230_27224235dup	VUS	1 lab	fd8f97ca31
19:1226508 STK11 G>A	19	1226508	1226508	G	A	STK11	c.1164G>A	NM_000455.5	NP_000446.1:p.(Lys388=)	NC_000019.9:g.1226508G>A	(Likely) benign	1 lab	fd901439f2
19:12759124 MAN2B1 CA>C	19	12759124	12759125	CA	C	MAN2B1	c.2528del	NM_000528.4	NP_000519.2:p.(Leu843ArgfsTer81)	NC_000019.9:g.12759125del	(Likely) pathogenic	1 lab	fd90169df8
17:73486777 TMEM94 G>A	17	73486777	73486777	G	A	TMEM94	c.1072-6G>A	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73486777G>A	(Likely) benign	1 lab	fd9045714f
15:38803935 RASGRP1 G>A	15	38803935	38803935	G	A	RASGRP1	c.850-14C>T	NM_005739.4	NP_005730.2:p.?	NC_000015.9:g.38803935G>A	(Likely) benign	1 lab	325fb01418
3:148459715 AGTR1 A>G	3	148459715	148459715	A	G	AGTR1	c.893A>G	NM_000685.5	NP_000676.1:p.(Asn298Ser)	NC_000003.11:g.148459715A>G	VUS	1 lab	fd947a193e
4:89183811 PPM1K T>C	4	89183811	89183811	T	C	PPM1K	c.1055A>G	NM_152542.5	NP_689755.3:p.(Tyr352Cys)	NC_000004.11:g.89183811T>C	VUS	1 lab	fd94f1e7a6
16:2161446 PKD1 A>C	16	2161446	2161446	A	C	PKD1	c.3722T>G	NM_001009944.3	NP_001009944.3:p.(Ile1241Ser)	NC_000016.9:g.2161446A>C	VUS	1 lab	fd950aec42
12:65564712 LEMD3 C>T	12	65564712	65564712	C	T	LEMD3	c.1336C>T	NM_014319.5	NP_055134.2:p.(Leu446Phe)	NC_000012.11:g.65564712C>T	VUS	1 lab	fd98ef670a
6:4044238 PRP4K G>T	6	4044238	4044238	G	T	PRP4K	c.1842G>T	NM_003913.5	NP_003904.3:p.(Met614Ile)	NC_000006.11:g.4044238G>T	VUS	1 lab	fd9a319aed
15:34042487 RYR3 G>A	15	34042487	34042487	G	A	RYR3	c.8399G>A	NM_001036.6	NP_001027.3:p.(Arg2800Lys)	NC_000015.9:g.34042487G>A	VUS	1 lab	fd9a793263
4:39217476 WDR19 C>G	4	39217476	39217476	C	G	WDR19	c.977C>G	NM_025132.4	NP_079408.3:p.(Ser326Cys)	NC_000004.11:g.39217476C>G	VUS	1 lab	fd9b20a639
1:14075947 PRDM2 C>T	1	14075947	14075947	C	T	PRDM2	c.476C>T	NM_001393986.1	NP_001380915.1:p.(Ala159Val)	NC_000001.10:g.14075947C>T	VUS	1 lab	fd9b2d7800
15:33261474 FMN1 CTCTG>C	15	33261474	33261486	CTCTG	C	FMN1	c.2424_2427del	NM_001277313.2	NP_001264242.1:p.(Asp808GlufsTer20)	NC_000015.9:g.33261483_33261486del	VUS	1 lab	fd9c08464d
8:30700386 TEX15 C>T	8	30700386	30700386	C	T	TEX15	c.7297G>A	NM_001350162.2	NP_001337091.1:p.(Glu2433Lys)	NC_000008.10:g.30700386C>T	(Likely) benign	1 lab	fd9c2d6589
5:153190712 GRIA1 T>G	5	153190712	153190712	T	G	GRIA1	c.2648T>G	NM_000827.4	NP_000818.2:p.(Phe883Cys)	NC_000005.9:g.153190712T>G	VUS	1 lab	fd9c830cc7
16:16276741 ABCC6 G>A	16	16276741	16276741	G	A	ABCC6	c.1990C>T	NM_001171.6	NP_001162.5:p.(Pro664Ser)	NC_000016.9:g.16276741G>A	VUS	1 lab	fd9c9d1c4f
10:51225877 PARG G>A	10	51225877	51225877	G	A	PARG	c.1454-95162C>T	NM_003631.5	NP_003622.2:p.?	NC_000010.10:g.51225877G>A	VUS	1 lab	fd9d62e439
1:227165232 COQ8A G>C	1	227165232	227165232	G	C	COQ8A	c.730+8G>C	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227165232G>C	VUS	1 lab	fd9dd9ab33
14:23540730 ACIN1 G>A	14	23540730	23540730	G	A	ACIN1	c.2124-1904C>T	NM_001386863.1	NP_001373792.1:p.?	NC_000014.8:g.23540730G>A	(Likely) benign	1 lab	fda131eecb
7:107621117 LAMB1 G>A	7	107621117	107621117	G	A	LAMB1	c.816C>T	NM_002291.3	NP_002282.2:p.(Phe272=)	NC_000007.13:g.107621117G>A	(Likely) benign	1 lab	fda15e46eb
21:47532090 COL6A2 G>A	21	47532090	47532090	G	A	COL6A2	c.313G>A	NM_001849.4	NP_001840.3:p.(Val105Met)	NC_000021.8:g.47532090G>A	VUS	1 lab	fda1b49ecc
19:12769166 MAN2B1 G>A	19	12769166	12769166	G	A	MAN2B1	c.1110-8C>T	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12769166G>A	(Likely) benign	1 lab	fda3b53c85
1:32849554 BSDC1 T>A	1	32849554	32849554	T	A	BSDC1	c.234A>T	NM_018045.8	NP_060515.3:p.(Leu78Phe)	NC_000001.10:g.32849554T>A	VUS	1 lab	fda49523dd
10:99130755 RRP12 G>A	10	99130755	99130755	G	A	RRP12	c.2427C>T	NM_015179.4	NP_055994.2:p.(Phe809=)	NC_000010.10:g.99130755G>A	(Likely) benign	1 lab	fda632c385
3:129308247 PLXND1 C>T	3	129308247	129308247	C	T	PLXND1	c.1435G>A	NM_015103.3	NP_055918.3:p.(Val479Ile)	NC_000003.11:g.129308247C>T	(Likely) benign	1 lab	fda779fe40
17:5442793 NLRP1 C>A	17	5442793	5442793	C	A	NLRP1	c.2812G>T	NM_033004.4	NP_127497.1:p.(Gly938Cys)	NC_000017.10:g.5442793C>A	VUS	1 lab	fdaa9f89e5
X:118725239 NKRF T>C	X	118725239	118725239	T	C	NKRF	c.431A>G	NM_001417890.1	NP_001404819.1:p.(Lys144Arg)	NC_000023.10:g.118725239T>C	(Likely) benign	1 lab	fdaefdc681
15:75968570 CSPG4 A>C	15	75968570	75968570	A	C	CSPG4	c.6290T>G	NM_001897.5	NP_001888.2:p.(Val2097Gly)	NC_000015.9:g.75968570A>C	VUS	1 lab	fdb0757cd0
21:43166866 RIPK4 C>T	21	43166866	43166866	C	T	RIPK4	c.739G>A	NM_020639.3	NP_065690.2:p.(Val247Met)	NC_000021.8:g.43166866C>T	(Likely) benign	1 lab	fdb2e26bd6
4:1807412 FGFR3 GC>G	4	1807412	1807413	GC	G	FGFR3	c.1645+17del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807413del	(Likely) benign	1 lab	fdb3f1c7d6
1:7731043 CAMTA1 A>T	1	7731043	7731043	A	T	CAMTA1	c.2725A>T	NM_015215.4	NP_056030.1:p.(Ile909Phe)	NC_000001.10:g.7731043A>T	(Likely) benign	1 lab	fdb5660dd7
7:151982848 KMT2C C>T	7	151982848	151982848	C	T	KMT2C	c.850-11896G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151982848C>T	(Likely) benign	1 lab	fdb62b8ddf
3:119134005 ARHGAP31 G>A	3	119134005	119134005	G	A	ARHGAP31	c.3229G>A	NM_020754.4	NP_065805.2:p.(Asp1077Asn)	NC_000003.11:g.119134005G>A	VUS	1 lab	fdb7965d0d
14:23313057 MMP14 G>A	14	23313057	23313057	G	A	MMP14	c.989G>A	NM_004995.4	NP_004986.1:p.(Arg330Gln)	NC_000014.8:g.23313057G>A	VUS	1 lab	fdb904a2d9
X:10491232 MID1 TC>T	X	10491232	10491233	TC	T	MID1	c.661-6del	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10491233del	(Likely) benign	1 lab	fdba0d7548
8:41789859 KAT6A C>T	8	41789859	41789859	C	T	KAT6A	c.5879G>A	NM_006766.5	NP_006757.2:p.(Ser1960Asn)	NC_000008.10:g.41789859C>T	(Likely) benign	1 lab	fdbfdc8c37
7:70228257 AUTS2 C>T	7	70228257	70228257	C	T	AUTS2	c.1144C>T	NM_015570.4	NP_056385.1:p.(Pro382Ser)	NC_000007.13:g.70228257C>T	(Likely) benign	1 lab	fdc1ae48a6
X:153590879 FLNA G>A	X	153590879	153590879	G	A	FLNA	c.2472C>T	NM_001456.3	NP_001447.2:p.(Phe824=)	NC_000023.10:g.153590879G>A	(Likely) benign	1 lab	32692d562c
16:3900813 CREBBP C>T	16	3900813	3900813	C	T	CREBBP	c.283G>A	NM_004380.3	NP_004371.2:p.(Val95Met)	NC_000016.9:g.3900813C>T	(Likely) benign	1 lab	fdc54ec909
10:72643730 PCBD1 G>A	10	72643730	72643730	G	A	PCBD1	c.292C>T	NM_000281.4	NP_000272.1:p.(Gln98Ter)	NC_000010.10:g.72643730G>A	(Likely) pathogenic	1 lab	d9cabb95d8
17:73497732 CASKIN2 A>G	17	73497732	73497732	A	G	CASKIN2	c.3335T>C	NM_020753.5	NP_065804.2:p.(Leu1112Pro)	NC_000017.10:g.73497732A>G	VUS	1 lab	fdc813fc88
15:91496736 UNC45A C>G	15	91496736	91496736	C	G	UNC45A	c.2625C>G	NM_018671.5	NP_061141.2:p.(Asn875Lys)	NC_000015.9:g.91496736C>G	(Likely) benign	1 lab	fdc899b0ea
7:99702959 AP4M1 C>T	7	99702959	99702959	C	T	AP4M1	c.824C>T	NM_004722.4	NP_004713.2:p.(Pro275Leu)	NC_000007.13:g.99702959C>T	VUS	1 lab	fdc94f85c0
17:45377915 ITGB3 G>A	17	45377915	45377915	G	A	ITGB3	c.1985G>A	NM_000212.3	NP_000203.2:p.(Arg662His)	NC_000017.10:g.45377915G>A	VUS	1 lab	fdca4ff72a
6:31083867 CDSN G>A	6	31083867	31083867	G	A	CDSN	c.1525C>T	NM_001264.5	NP_001255.4:p.(Leu509=)	NC_000006.11:g.31083867G>A	(Likely) benign	1 lab	d9cd1344bf
8:104337497 FZD6 C>A	8	104337497	104337497	C	A	FZD6	c.1163C>A	NM_003506.4	NP_003497.2:p.(Ala388Asp)	NC_000008.10:g.104337497C>A	VUS	1 lab	fdcd8a453b
16:30012323 INO80E C>T	16	30012323	30012323	C	T	INO80E	c.358C>T	NM_173618.3	NP_775889.1:p.(Leu120Phe)	NC_000016.9:g.30012323C>T	(Likely) benign	1 lab	fdce277dc5
6:17541218 CAP2 A>C	6	17541218	17541218	A	C	CAP2	c.841A>C	NM_006366.3	NP_006357.1:p.(Thr281Pro)	NC_000006.11:g.17541218A>C	VUS	1 lab	fdce3a9d42
16:29998663 TAOK2 A>G	16	29998663	29998663	A	G	TAOK2	c.3070A>G	NM_016151.4	NP_057235.2:p.(Thr1024Ala)	NC_000016.9:g.29998663A>G	VUS	1 lab	fdce82d6ec
X:53445488 SMC1A G>A	X	53445488	53445488	G	A	SMC1A	c.110-3370C>T	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53445488G>A	(Likely) benign	1 lab	fdceaf9c6e
4:79202573 FRAS1 G>T	4	79202573	79202573	G	T	FRAS1	c.1093G>T	NM_025074.7	NP_079350.5:p.(Val365Phe)	NC_000004.11:g.79202573G>T	VUS	1 lab	fdceb3ba75
1:120497819 NOTCH2 G>A	1	120497819	120497819	G	A	NOTCH2	c.2063C>T	NM_024408.4	NP_077719.2:p.(Ser688Phe)	NC_000001.10:g.120497819G>A	(Likely) benign	1 lab	fdd04eba41
16:53682980 RPGRIP1L G>A	16	53682980	53682980	G	A	RPGRIP1L	c.2200C>T	NM_015272.5	NP_056087.2:p.(Arg734Ter)	NC_000016.9:g.53682980G>A	(Likely) pathogenic	1 lab	fdd17027fb
16:86601299 FOXC2 A>G	16	86601299	86601299	A	G	FOXC2	c.358A>G	NM_005251.3	NP_005242.1:p.(Ile120Val)	NC_000016.9:g.86601299A>G	VUS	1 lab	fdd2afa17a
3:136139686 STAG1 G>A	3	136139686	136139686	G	A	STAG1	c.2108+249C>T	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136139686G>A	(Likely) benign	1 lab	fdd2f331eb
2:228145292 COL4A3 T>C	2	228145292	228145292	T	C	COL4A3	c.2360T>C	NM_000091.5	NP_000082.2:p.(Leu787Pro)	NC_000002.11:g.228145292T>C	(Likely) benign	1 lab	fdd31bdc9f
17:11513814 DNAH9 C>G	17	11513814	11513814	C	G	DNAH9	c.716C>G	NM_001372.4	NP_001363.2:p.(Pro239Arg)	NC_000017.10:g.11513814C>G	VUS	1 lab	fdd4ae55bf
16:2144158 PKD1 TC>T	16	2144158	2144163	TC	T	PKD1	c.10552del	NM_001009944.3	NP_001009944.3:p.(Glu3518SerfsTer9)	NC_000016.9:g.2144163del	(Likely) pathogenic	1 lab	fdd7cbb97d
12:57860076 GLI1 G>A	12	57860076	57860076	G	A	GLI1	c.816G>A	NM_005269.3	NP_005260.1:p.(Trp272Ter)	NC_000012.11:g.57860076G>A	(Likely) pathogenic	1 lab	fdd7d17269
11:62300795 AHNAK C>A	11	62300795	62300795	C	A	AHNAK	c.1094G>T	NM_001620.3	NP_001611.1:p.(Gly365Val)	NC_000011.9:g.62300795C>A	VUS	1 lab	fdd894aedc
4:3445823 HGFAC C>A	4	3445823	3445823	C	A	HGFAC	c.533C>A	NM_001528.4	NP_001519.1:p.(Thr178Asn)	NC_000004.11:g.3445823C>A	VUS	1 lab	fdd91cdbf5
11:55656437 TRIM51 A>ATTT	11	55656437	55656450	A	ATTT	TRIM51	c.739-7_739-5dup	NM_032681.4	NP_116070.2:p.?	NC_000011.9:g.55656448_55656450dup	(Likely) benign	1 lab	fdd9c6453f
7:100276124 GNB2 A>T	7	100276124	100276124	A	T	GNB2	c.803A>T	NM_005273.4	NP_005264.2:p.(Asn268Ile)	NC_000007.13:g.100276124A>T	(Likely) benign	1 lab	fddaa8aacd
2:32689610 BIRC6 ACAGCTGCAG>A	2	32689610	32689632	ACAGCTGCAG	A	BIRC6	c.4989_4997del	NM_016252.4	NP_057336.3:p.(Ala1664_Ala1666del)	NC_000002.11:g.32689624_32689632del	VUS	1 lab	fddcb83439
X:140994385 MAGEC1 ACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTACAGAGTTCTCCTGAGAGTGCTCAAAGTG>A	X	140994385	140994528	ACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTATTGAGTATTTTACAGAGTTCTCCTGAGAGTGCTCAAAGTG	A	MAGEC1	c.1234_1338del	NM_005462.5	NP_005453.2:p.(Met412_Pro446del)	NC_000023.10:g.140994424_140994528del	VUS	1 lab	fddd43b952
5:179050171 HNRNPH1 A>C	5	179050171	179050171	A	C	HNRNPH1	c.-31-6T>G	NM_001257293.2	NP_001244222.1:p.?	NC_000005.9:g.179050171A>C	(Likely) benign	1 lab	fddd663821
2:171358311 MYO3B T>A	2	171358311	171358311	T	A	MYO3B	c.3306T>A	NM_138995.5	NP_620482.3:p.(Asp1102Glu)	NC_000002.11:g.171358311T>A	VUS	1 lab	fddf8505d2
19:11170857 SMARCA4 A>C	19	11170857	11170857	A	C	SMARCA4	c.4905A>C	NM_003072.5	NP_003063.2:p.(Gln1635His)	NC_000019.9:g.11170857A>C	VUS	1 lab	fde02f7be4
8:30567423 GSR TA>T	8	30567423	30567441	TA	T	GSR	c.334-5del	NM_000637.5	NP_000628.2:p.?	NC_000008.10:g.30567441del	(Likely) benign	1 lab	32693b218b
7:128491363 FLNC A>G	7	128491363	128491363	A	G	FLNC	c.5617A>G	NM_001458.5	NP_001449.3:p.(Met1873Val)	NC_000007.13:g.128491363A>G	VUS	1 lab	fde35dc17b
16:88873543 CDT1 C>T	16	88873543	88873543	C	T	CDT1	c.1207C>T	NM_030928.4	NP_112190.2:p.(Pro403Ser)	NC_000016.9:g.88873543C>T	(Likely) benign	1 lab	fde3d379b9
17:44109450 KANSL1 G>A	17	44109450	44109450	G	A	KANSL1	c.3053C>T	NM_015443.4	NP_056258.1:p.(Thr1018Ile)	NC_000017.10:g.44109450G>A	(Likely) benign	1 lab	fde5b451c0
10:102584466 PAX2 G>A	10	102584466	102584466	G	A	PAX2	c.981G>A	NM_003988.5	NP_003979.2:p.(Gln327=)	NC_000010.10:g.102584466G>A	VUS	1 lab	32697aa4be
8:144990453 PLEC G>A	8	144990453	144990453	G	A	PLEC	c.13536C>T	NM_201384.3	NP_958786.1:p.(Gly4512=)	NC_000008.10:g.144990453G>A	(Likely) benign	1 lab	fde77050ab
6:132207757 ENPP1 G>A	6	132207757	132207757	G	A	ENPP1	c.2500G>A	NM_006208.3	NP_006199.2:p.(Val834Met)	NC_000006.11:g.132207757G>A	VUS	1 lab	fde86a738e
10:292716 ZMYND11 C>G	10	292716	292716	C	G	ZMYND11	c.961C>G	NM_001370100.5	NP_001357029.1:p.(Pro321Ala)	NC_000010.10:g.292716C>G	(Likely) benign	1 lab	fde9d3cfe3
X:19984574 BCLAF3 G>T	X	19984574	19984574	G	T	BCLAF3	c.235C>A	NM_001367774.2	NP_001354703.1:p.(Pro79Thr)	NC_000023.10:g.19984574G>T	(Likely) benign	1 lab	fdea6345ef
19:50334149 MED25 G>A	19	50334149	50334149	G	A	MED25	c.1101+5G>A	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50334149G>A	VUS	1 lab	fdea7affa0
3:12421316 PPARG A>G	3	12421316	12421316	A	G	PPARG	c.106A>G	NM_138711.6	NP_619725.3:p.(Thr36Ala)	NC_000003.11:g.12421316A>G	(Likely) benign	1 lab	fdeb23a7e3
15:42139875 JMJD7-PLA2G4B A>G	15	42139875	42139875	A	G	JMJD7-PLA2G4B	c.2669A>G	NM_001198588.1	NP_001185517.1:p.(Gln890Arg)	NC_000015.9:g.42139875A>G	(Likely) benign	1 lab	326b62b659
20:60893499 LAMA5 G>A	20	60893499	60893499	G	A	LAMA5	c.7239+11C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60893499G>A	(Likely) benign	1 lab	3279631f7e
15:51755689 DMXL2 G>A	15	51755689	51755689	G	A	DMXL2	c.7813C>T	NM_001378457.1	NP_001365386.1:p.(Arg2605Trp)	NC_000015.9:g.51755689G>A	VUS	1 lab	fdec246816
7:21611571 DNAH11 C>T	7	21611571	21611571	C	T	DNAH11	c.1573C>T	NM_001277115.2	NP_001264044.1:p.(Pro525Ser)	NC_000007.13:g.21611571C>T	(Likely) benign	1 lab	fdecf2f90f
7:43484275 HECW1 G>C	7	43484275	43484275	G	C	HECW1	c.1504G>C	NM_015052.5	NP_055867.3:p.(Glu502Gln)	NC_000007.13:g.43484275G>C	VUS	1 lab	fded3384d5
17:72295863 DNAI2 G>A	17	72295863	72295863	G	A	DNAI2	c.731G>A	NM_023036.6	NP_075462.3:p.(Trp244Ter)	NC_000017.10:g.72295863G>A	(Likely) pathogenic	1 lab	fdef29fc64
17:78357636 RNF213 A>G	17	78357636	78357636	A	G	RNF213	c.14230A>G	NM_001256071.3	NP_001243000.2:p.(Arg4744Gly)	NC_000017.10:g.78357636A>G	VUS	1 lab	fdf19ba8e1
19:57931699 ZNF17 G>C	19	57931699	57931699	G	C	ZNF17	c.845G>C	NM_001330617.2	NP_001317546.1:p.(Gly282Ala)	NC_000019.9:g.57931699G>C	(Likely) benign	1 lab	fdf1c8afa4
11:71948206 INPPL1 C>T	11	71948206	71948206	C	T	INPPL1	c.2918C>T	NM_001567.4	NP_001558.3:p.(Ala973Val)	NC_000011.9:g.71948206C>T	(Likely) benign	1 lab	fdf3453fba
12:66709144 HELB A>G	12	66709144	66709144	A	G	HELB	c.1981A>G	NM_001370285.1	NP_001357214.1:p.(Ile661Val)	NC_000012.11:g.66709144A>G	VUS	1 lab	fdf3b822a5
X:3021878 ARSF C>A	X	3021878	3021878	C	A	ARSF	c.1178C>A	NM_001201539.2	NP_001188468.1:p.(Ala393Asp)	NC_000023.10:g.3021878C>A	(Likely) benign	1 lab	fdf3cbc24e
10:73581683 PSAP C>T	10	73581683	73581683	C	T	PSAP	c.859G>A	NM_002778.4	NP_002769.1:p.(Val287Met)	NC_000010.10:g.73581683C>T	VUS	1 lab	fdf54efdc4
6:143074827 HIVEP2 A>G	6	143074827	143074827	A	G	HIVEP2	c.6758T>C	NM_006734.4	NP_006725.3:p.(Leu2253Ser)	NC_000006.11:g.143074827A>G	(Likely) benign	1 lab	fdf57c51fc
2:170088338 LRP2 C>G	2	170088338	170088338	C	G	LRP2	c.5113G>C	NM_004525.3	NP_004516.2:p.(Ala1705Pro)	NC_000002.11:g.170088338C>G	VUS	1 lab	fdf57f483a
19:8464868 RAB11B G>T	19	8464868	8464868	G	T	RAB11B	c.162G>T	NM_004218.4	NP_004209.2:p.(Gln54His)	NC_000019.9:g.8464868G>T	(Likely) benign	1 lab	fdf60cba04
12:20786667 PDE3A C>A	12	20786667	20786667	C	A	PDE3A	c.1801C>A	NM_000921.5	NP_000912.3:p.(Pro601Thr)	NC_000012.11:g.20786667C>A	(Likely) benign	1 lab	fdf771cf57
1:100336321 AGL G>A	1	100336321	100336321	G	A	AGL	c.854G>A	NM_000642.3	NP_000633.2:p.(Arg285Gln)	NC_000001.10:g.100336321G>A	VUS	1 lab	fdf7cb8b78
4:111543545 PITX2 TGAG>T	4	111543545	111543551	TGAG	T	PITX2	c.69_71del	NM_000325.6	NP_000316.2:p.(Ser26del)	NC_000004.11:g.111543549_111543551del	VUS	1 lab	fdf7d600a7
2:20162057 WDR35 G>A	2	20162057	20162057	G	A	WDR35	c.1195-1682C>T	NM_020779.4	NP_065830.2:p.?	NC_000002.11:g.20162057G>A	(Likely) benign	1 lab	fdf8e0b566
16:9923436 GRIN2A C>G	16	9923436	9923436	C	G	GRIN2A	c.1851G>C	NM_001134407.3	NP_001127879.1:p.(Val617=)	NC_000016.9:g.9923436C>G	(Likely) benign	1 lab	fdfaffe247
15:43820417 MAP1A G>A	15	43820417	43820417	G	A	MAP1A	c.6746G>A	NM_002373.6	NP_002364.5:p.(Arg2249Gln)	NC_000015.9:g.43820417G>A	VUS	1 lab	fdfb1452fd
5:13923470 DNAH5 GT>G	5	13923470	13923473	GT	G	DNAH5	c.356del	NM_001369.3	NP_001360.1:p.(Asn119ThrfsTer30)	NC_000005.9:g.13923473del	(Likely) pathogenic	1 lab	fdfd373047
8:61754457 CHD7 A>G	8	61754457	61754457	A	G	CHD7	c.4696A>G	NM_017780.4	NP_060250.2:p.(Ser1566Gly)	NC_000008.10:g.61754457A>G	VUS	1 lab	2f25862cb8
8:140998944 TRAPPC9 C>T	8	140998944	140998944	C	T	TRAPPC9	c.2800G>A	NM_001160372.4	NP_001153844.1:p.(Glu934Lys)	NC_000008.10:g.140998944C>T	VUS	1 lab	fe01056c43
7:42005477 GLI3 C>T	7	42005477	42005477	C	T	GLI3	c.3194G>A	NM_000168.6	NP_000159.3:p.(Cys1065Tyr)	NC_000007.13:g.42005477C>T	VUS	1 lab	fe0177fc21
1:120548173 NOTCH2 C>T	1	120548173	120548173	C	T	NOTCH2	c.194G>A	NM_024408.4	NP_077719.2:p.(Arg65Gln)	NC_000001.10:g.120548173C>T	(Likely) benign	1 lab	fe028b292a
19:49520315 LHB T>C	19	49520315	49520315	T	C	LHB	c.15+9A>G	NM_000894.3	NP_000885.1:p.?	NC_000019.9:g.49520315T>C	(Likely) benign	1 lab	2f25c5705a
20:944718 RSPO4 T>G	20	944718	944718	T	G	RSPO4	c.455A>C	NM_001029871.4	NP_001025042.2:p.(His152Pro)	NC_000020.10:g.944718T>G	(Likely) benign	1 lab	fe03e58bfb
5:13752391 DNAH5 G>A	5	13752391	13752391	G	A	DNAH5	c.10880C>T	NM_001369.3	NP_001360.1:p.(Ser3627Phe)	NC_000005.9:g.13752391G>A	VUS	1 lab	fe0543b81c
8:116631490 TRPS1 C>A	8	116631490	116631490	C	A	TRPS1	c.835G>T	NM_014112.5	NP_054831.2:p.(Ala279Ser)	NC_000008.10:g.116631490C>A	VUS	1 lab	fe05524d2d
19:1461055 APC2 G>A	19	1461055	1461055	G	A	APC2	c.1541G>A	NM_005883.3	NP_005874.1:p.(Arg514Gln)	NC_000019.9:g.1461055G>A	VUS	1 lab	fe05c22434
5:158590058 RNF145 C>CT	5	158590058	158590060	C	CT	RNF145	c.1150dup	NM_001199383.2	NP_001186312.1:p.(Ser384LysfsTer54)	NC_000005.9:g.158590060dup	VUS	1 lab	fe0646d0ac
1:21903929 ALPL G>A	1	21903929	21903929	G	A	ALPL	c.1363G>A	NM_000478.6	NP_000469.3:p.(Gly455Ser)	NC_000001.10:g.21903929G>A	VUS	1 lab	fe07e5aa7e
15:30381914 GOLGA8J C>G	15	30381914	30381914	C	G	GOLGA8J	c.886C>G	NM_001282472.2	NP_001269401.1:p.(Pro296Ala)	NC_000015.9:g.30381914C>G	(Likely) benign	1 lab	fe0924bc64
11:117869669 IL10RA C>T	11	117869669	117869669	C	T	IL10RA	c.1050C>T	NM_001558.4	NP_001549.2:p.(Asn350=)	NC_000011.9:g.117869669C>T	VUS	1 lab	fe09287ed9
16:1560954 IFT140 G>A	16	1560954	1560954	G	A	IFT140	c.4380C>T	NM_014714.4	NP_055529.2:p.(Asp1460=)	NC_000016.9:g.1560954G>A	(Likely) benign	1 lab	fe09be25fb
2:15693565 NBAS T>C	2	15693565	15693565	T	C	NBAS	c.320A>G	NM_015909.4	NP_056993.2:p.(Gln107Arg)	NC_000002.11:g.15693565T>C	VUS	1 lab	fe0a60aee4
16:88901632 GALNS G>A	16	88901632	88901632	G	A	GALNS	c.887C>T	NM_000512.5	NP_000503.1:p.(Ala296Val)	NC_000016.9:g.88901632G>A	(Likely) benign	1 lab	fe0aa2b6b1
17:40574849 CAVIN1 G>T	17	40574849	40574849	G	T	CAVIN1	c.267C>A	NM_012232.6	NP_036364.2:p.(Ile89=)	NC_000017.10:g.40574849G>T	(Likely) benign	1 lab	fe0ae6ff8c
13:33629273 KL C>T	13	33629273	33629273	C	T	KL	c.1420C>T	NM_004795.4	NP_004786.2:p.(Arg474Cys)	NC_000013.10:g.33629273C>T	VUS	1 lab	fe0c3a48d2
5:58511645 PDE4D G>A	5	58511645	58511645	G	A	PDE4D	c.605C>T	NM_001104631.2	NP_001098101.1:p.(Ser202Phe)	NC_000005.9:g.58511645G>A	VUS	1 lab	fe0ddbd9f8
17:70119005 SOX9 A>G	17	70119005	70119005	A	G	SOX9	c.577A>G	NM_000346.4	NP_000337.1:p.(Thr193Ala)	NC_000017.10:g.70119005A>G	VUS	1 lab	fe0de99592
2:238242105 COL6A3 G>C	2	238242105	238242105	G	C	COL6A3	c.9316C>G	NM_004369.4	NP_004360.2:p.(Leu3106Val)	NC_000002.11:g.238242105G>C	(Likely) benign	1 lab	fe0e7c1044
1:94487436 ABCA4 A>G	1	94487436	94487436	A	G	ABCA4	c.4739T>C	NM_000350.3	NP_000341.2:p.(Leu1580Ser)	NC_000001.10:g.94487436A>G	(Likely) pathogenic	1 lab	2f277592b3
15:99250908 IGF1R G>A	15	99250908	99250908	G	A	IGF1R	c.212G>A	NM_000875.5	NP_000866.1:p.(Arg71His)	NC_000015.9:g.99250908G>A	VUS	1 lab	fe108da146
1:227921714 JMJD4 C>T	1	227921714	227921714	C	T	JMJD4	c.448G>A	NM_023007.3	NP_075383.3:p.(Val150Ile)	NC_000001.10:g.227921714C>T	(Likely) benign	1 lab	fe1173f6f2
3:133654687 SLCO2A1 C>T	3	133654687	133654687	C	T	SLCO2A1	c.1745G>A	NM_005630.3	NP_005621.2:p.(Arg582Gln)	NC_000003.11:g.133654687C>T	(Likely) benign	1 lab	fe11e18657
3:176769328 TBL1XR1 C>T	3	176769328	176769328	C	T	TBL1XR1	c.391G>A	NM_024665.7	NP_078941.2:p.(Ala131Thr)	NC_000003.11:g.176769328C>T	VUS	1 lab	2f280ea7fd
1:156100451 LMNA C>G	1	156100451	156100451	C	G	LMNA	c.400C>G	NM_170707.4	NP_733821.1:p.(Leu134Val)	NC_000001.10:g.156100451C>G	VUS	1 lab	fe1315773a
11:62388059 B3GAT3 G>A	11	62388059	62388059	G	A	B3GAT3	c.167C>T	NM_012200.4	NP_036332.2:p.(Ala56Val)	NC_000011.9:g.62388059G>A	(Likely) benign	1 lab	fe13b63e24
14:103412797 CDC42BPB G>C	14	103412797	103412797	G	C	CDC42BPB	c.3748+8C>G	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103412797G>C	(Likely) benign	1 lab	fe14f12057
X:57620430 ZXDB CTAA>C	X	57620430	57620443	CTAA	C	ZXDB	c.1960_1962del	NM_007157.4	NP_009088.1:p.(Asn654del)	NC_000023.10:g.57620441_57620443del	(Likely) benign	1 lab	fe15e9dddd
12:12871869 CDKN1B C>T	12	12871869	12871869	C	T	CDKN1B	c.586C>T	NM_004064.5	NP_004055.1:p.(Arg196Cys)	NC_000012.11:g.12871869C>T	VUS	1 lab	fe170cd596
X:154066017 F8 C>T	X	154066017	154066017	C	T	F8	c.6911G>A	NM_000132.3	NP_000123.1:p.(Gly2304Glu)	NC_000023.10:g.154066017C>T	(Likely) pathogenic	1 lab	326c106ac4
X:48326089 SLC38A5 C>A	X	48326089	48326089	C	A	SLC38A5	c.129+8G>T	NM_033518.4	NP_277053.2:p.?	NC_000023.10:g.48326089C>A	VUS	1 lab	fe377ab776
17:60059913 MED13 G>A	17	60059913	60059913	G	A	MED13	c.3451C>T	NM_005121.3	NP_005112.2:p.(Arg1151Cys)	NC_000017.10:g.60059913G>A	(Likely) benign	1 lab	fe198dc139
14:23889232 MYH7 A>T	14	23889232	23889232	A	T	MYH7	c.3548T>A	NM_000257.4	NP_000248.2:p.(Leu1183Gln)	NC_000014.8:g.23889232A>T	VUS	1 lab	2f291122af
21:47626586 LSS C>T	21	47626586	47626586	C	T	LSS	c.1564G>A	NM_002340.6	NP_002331.3:p.(Gly522Arg)	NC_000021.8:g.47626586C>T	VUS	1 lab	fe1acf1790
2:109398665 RANBP2 A>C	2	109398665	109398665	A	C	RANBP2	c.8842A>C	NM_006267.5	NP_006258.3:p.(Ser2948Arg)	NC_000002.11:g.109398665A>C	(Likely) benign	1 lab	fe1d82243d
2:54871646 SPTBN1 G>A	2	54871646	54871646	G	A	SPTBN1	c.4192G>A	NM_003128.3	NP_003119.2:p.(Gly1398Ser)	NC_000002.11:g.54871646G>A	VUS	1 lab	fe1f6b6292
7:101740640 CUX1 G>A	7	101740640	101740640	G	A	CUX1	c.269-4G>A	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101740640G>A	(Likely) benign	1 lab	fe229b1a36
17:7099807 DLG4 G>A	17	7099807	7099807	G	A	DLG4	c.1171C>T	NM_001321075.3	NP_001308004.1:p.(Gln391Ter)	NC_000017.10:g.7099807G>A	(Likely) pathogenic	1 lab	fe232a2475
X:149931074 MTMR1 G>A	X	149931074	149931074	G	A	MTMR1	c.1894G>A	NM_001306144.3	NP_001293073.1:p.(Val632Ile)	NC_000023.10:g.149931074G>A	(Likely) benign	1 lab	fe2367211b
3:119133615 ARHGAP31 C>T	3	119133615	119133615	C	T	ARHGAP31	c.2839C>T	NM_020754.4	NP_065805.2:p.(Pro947Ser)	NC_000003.11:g.119133615C>T	(Likely) benign	1 lab	fe2416a995
15:42703178 CAPN3 T>TTTCA	15	42703178	42703180	T	TTTCA	CAPN3	c.2361_2362insTCAT	NM_000070.3	NP_000061.1:p.(Arg788SerfsTer2)	NC_000015.9:g.42703179_42703180insTCAT	(Likely) pathogenic	1 lab	fe25a932bb
16:1961881 HS3ST6 C>T	16	1961881	1961881	C	T	HS3ST6	c.739G>A	NM_001009606.4	NP_001009606.3:p.(Val247Ile)	NC_000016.9:g.1961881C>T	VUS	1 lab	2f2d6eb2c7
X:153461472 OPN1MW G>C	X	153461472	153461472	G	C	OPN1MW	c.1036G>C	NM_000513.2	NP_000504.1:p.(Glu346Gln)	NC_000023.10:g.153461472G>C	(Likely) benign	1 lab	fe26a3453d
20:8630084 PLCB1 T>C	20	8630084	8630084	T	C	PLCB1	c.582T>C	NM_182734.3	NP_877398.1:p.(Leu194=)	NC_000020.10:g.8630084T>C	(Likely) benign	1 lab	326f90668b
22:19754163 TBX1 G>A	22	19754163	19754163	G	A	TBX1	c.1288G>A	NM_001379200.1	NP_001366129.1:p.(Ala430Thr)	NC_000022.10:g.19754163G>A	VUS	1 lab	fe2933b860
16:2165566 PKD1 G>A	16	2165566	2165566	G	A	PKD1	c.1910C>T	NM_001009944.3	NP_001009944.3:p.(Ala637Val)	NC_000016.9:g.2165566G>A	(Likely) benign	1 lab	fe2a698f67
18:72344476 ZNF407 C>CCCCT	18	72344476	72344477	C	CCCCT	ZNF407	c.1501_1502insCCCT	NM_017757.3	NP_060227.2:p.(Gln501ProfsTer41)	NC_000018.9:g.72344476_72344477insCCCT	VUS	1 lab	fe2ab4a980
2:189868515 COL3A1 T>A	2	189868515	189868515	T	A	COL3A1	c.2661+2T>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189868515T>A	(Likely) pathogenic	1 lab	fe2b0902ca
7:106898824 COG5 G>A	7	106898824	106898824	G	A	COG5	c.1580C>T	NM_006348.5	NP_006339.4:p.(Ser527Phe)	NC_000007.13:g.106898824G>A	(Likely) benign	1 lab	fe2b367659
13:48571013 SUCLA2 G>A	13	48571013	48571013	G	A	SUCLA2	c.236C>T	NM_003850.3	NP_003841.1:p.(Ser79Leu)	NC_000013.10:g.48571013G>A	VUS	1 lab	d9cd202742
8:43013742 HGSNAT G>A	8	43013742	43013742	G	A	HGSNAT	c.259G>A	NM_152419.3	NP_689632.2:p.(Val87Ile)	NC_000008.10:g.43013742G>A	(Likely) benign	1 lab	fe2cd271e7
1:200534345 KIF14 A>C	1	200534345	200534345	A	C	KIF14	c.3923T>G	NM_014875.3	NP_055690.1:p.(Ile1308Ser)	NC_000001.10:g.200534345A>C	VUS	1 lab	fe2d1ded67
7:92762257 SAMD9L G>C	7	92762257	92762257	G	C	SAMD9L	c.3028C>G	NM_152703.5	NP_689916.2:p.(Gln1010Glu)	NC_000007.13:g.92762257G>C	(Likely) benign	1 lab	fe2d43b5f1
22:50656736 TUBGCP6 T>C	22	50656736	50656736	T	C	TUBGCP6	c.5050A>G	NM_020461.4	NP_065194.3:p.(Ile1684Val)	NC_000022.10:g.50656736T>C	(Likely) benign	1 lab	fe2e781639
5:150407536 GPX3 G>A	5	150407536	150407536	G	A	GPX3	c.526G>A	NM_002084.5	NP_002075.2:p.(Val176Ile)	NC_000005.9:g.150407536G>A	VUS	1 lab	fe2f5cf175
14:51372120 PYGL T>C	14	51372120	51372120	T	C	PYGL	c.2534A>G	NM_002863.5	NP_002854.3:p.(Asn845Ser)	NC_000014.8:g.51372120T>C	(Likely) benign	1 lab	fe30535572
1:152276798 FLG C>T	1	152276798	152276798	C	T	FLG	c.10564G>A	NM_002016.2	NP_002007.1:p.(Gly3522Ser)	NC_000001.10:g.152276798C>T	(Likely) benign	1 lab	fe32c911b1
8:105509439 LRP12 GT>G	8	105509439	105509446	GT	G	LRP12	c.1340del	NM_013437.5	NP_038465.1:p.(Asn447ThrfsTer41)	NC_000008.10:g.105509446del	VUS	1 lab	fe34326d2e
4:6303165 WFS1 T>G	4	6303165	6303165	T	G	WFS1	c.1643T>G	NM_006005.3	NP_005996.2:p.(Leu548Arg)	NC_000004.11:g.6303165T>G	VUS	1 lab	fe35455b1a
17:4448099 MYBBP1A C>T	17	4448099	4448099	C	T	MYBBP1A	c.2428G>A	NM_014520.4	NP_055335.2:p.(Glu810Lys)	NC_000017.10:g.4448099C>T	VUS	1 lab	fe36843236
17:17697304 RAI1 C>T	17	17697304	17697304	C	T	RAI1	c.1042C>T	NM_030665.4	NP_109590.3:p.(Arg348Cys)	NC_000017.10:g.17697304C>T	(Likely) benign	1 lab	fe37bd4232
7:148514468 EZH2 C>G	7	148514468	148514468	C	G	EZH2	c.1256G>C	NM_004456.5	NP_004447.2:p.(Cys419Ser)	NC_000007.13:g.148514468C>G	(Likely) benign	1 lab	fe383f6683
11:68671424 IGHMBP2 G>A	11	68671424	68671424	G	A	IGHMBP2	c.4G>A	NM_002180.3	NP_002171.2:p.(Ala2Thr)	NC_000011.9:g.68671424G>A	VUS	1 lab	fe3873517b
1:240370369 FMN2 G>T	1	240370369	240370369	G	T	FMN2	c.2257G>T	NM_020066.5	NP_064450.3:p.(Gly753Trp)	NC_000001.10:g.240370369G>T	VUS	1 lab	fe3983b527
11:128840628 ARHGAP32 C>T	11	128840628	128840628	C	T	ARHGAP32	c.4480G>A	NM_001378024.1	NP_001364953.1:p.(Asp1494Asn)	NC_000011.9:g.128840628C>T	VUS	1 lab	fe3b2c83de
3:37067432 MLH1 A>AG	3	37067432	37067437	A	AG	MLH1	c.1348dup	NM_000249.4	NP_000240.1:p.(Asp450GlyfsTer29)	NC_000003.11:g.37067437dup	(Likely) pathogenic	1 lab	fe3b42e87f
1:24019079 RPL11 G>T	1	24019079	24019079	G	T	RPL11	c.7-20G>T	NM_000975.5	NP_000966.2:p.?	NC_000001.10:g.24019079G>T	(Likely) benign	1 lab	32735e67b7
4:1977021 NSD2 G>A	4	1977021	1977021	G	A	NSD2	c.3515G>A	NM_001042424.3	NP_001035889.1:p.(Gly1172Glu)	NC_000004.11:g.1977021G>A	VUS	1 lab	fe3ba2cf25
1:230410239 GALNT2 C>G	1	230410239	230410239	C	G	GALNT2	c.1489C>G	NM_004481.5	NP_004472.1:p.(Leu497Val)	NC_000001.10:g.230410239C>G	VUS	1 lab	fe3c170dda
10:70202800 DNA2 G>A	10	70202800	70202800	G	A	DNA2	c.1289C>T	NM_001080449.3	NP_001073918.2:p.(Thr430Ile)	NC_000010.10:g.70202800G>A	VUS	1 lab	fe3cd08e28
2:100625347 AFF3 C>T	2	100625347	100625347	C	T	AFF3	c.101G>A	NM_001386135.1	NP_001373064.1:p.(Arg34Lys)	NC_000002.11:g.100625347C>T	(Likely) benign	1 lab	fe3e2e1d35
2:54856235 SPTBN1 G>T	2	54856235	54856235	G	T	SPTBN1	c.1964G>T	NM_003128.3	NP_003119.2:p.(Arg655Leu)	NC_000002.11:g.54856235G>T	VUS	1 lab	fe3ec11aa1
3:47036752 NBEAL2 G>A	3	47036752	47036752	G	A	NBEAL2	c.1527G>A	NM_015175.2	NP_055990.1:p.(Glu509=)	NC_000003.11:g.47036752G>A	(Likely) benign	1 lab	327418ec3b
11:64428348 NRXN2 G>A	11	64428348	64428348	G	A	NRXN2	c.2062C>T	NM_015080.4	NP_055895.1:p.(Arg688Trp)	NC_000011.9:g.64428348G>A	(Likely) benign	1 lab	fe41c2b972
1:228529912 OBSCN C>T	1	228529912	228529912	C	T	OBSCN	c.20998C>T	NM_001386125.1	NP_001373054.1:p.(Pro7000Ser)	NC_000001.10:g.228529912C>T	VUS	1 lab	fe423e47ca
1:110613075 ALX3 A>T	1	110613075	110613075	A	T	ALX3	c.160T>A	NM_006492.3	NP_006483.2:p.(Cys54Ser)	NC_000001.10:g.110613075A>T	(Likely) benign	1 lab	fe42886e93
X:100129120 NOX1 G>T	X	100129120	100129120	G	T	NOX1	c.9C>A	NM_007052.5	NP_008983.2:p.(Asn3Lys)	NC_000023.10:g.100129120G>T	VUS	1 lab	fe438ae75b
5:5262771 ADAMTS16 A>G	5	5262771	5262771	A	G	ADAMTS16	c.2664A>G	NM_139056.4	NP_620687.2:p.(Gly888=)	NC_000005.9:g.5262771A>G	(Likely) benign	1 lab	fe43b7f8ff
19:17113125 CPAMD8 G>T	19	17113125	17113125	G	T	CPAMD8	c.709C>A	NM_015692.5	NP_056507.3:p.(Arg237=)	NC_000019.9:g.17113125G>T	VUS	1 lab	fe440ca1c4
2:176046380 ATP5MC3 T>G	2	176046380	176046380	T	G	ATP5MC3	c.-74+4A>C	NM_001689.5	NP_001680.1:p.?	NC_000002.11:g.176046380T>G	VUS	1 lab	fe443bd1ed
16:72822149 ZFHX3 G>C	16	72822149	72822149	G	C	ZFHX3	c.10026C>G	NM_006885.4	NP_008816.3:p.(Phe3342Leu)	NC_000016.9:g.72822149G>C	(Likely) benign	1 lab	fe45c0c530
6:159653891 FNDC1 G>C	6	159653891	159653891	G	C	FNDC1	c.2347G>C	NM_032532.3	NP_115921.2:p.(Ala783Pro)	NC_000006.11:g.159653891G>C	VUS	1 lab	fe45dd6034
1:11319406 MTOR C>T	1	11319406	11319406	C	T	MTOR	c.61G>A	NM_004958.4	NP_004949.1:p.(Val21Ile)	NC_000001.10:g.11319406C>T	(Likely) benign	1 lab	fe46eaadd9
18:56400619 MALT1 C>G	18	56400619	56400619	C	G	MALT1	c.1223-10C>G	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56400619C>G	(Likely) benign	1 lab	3275ce5139
11:68702765 IGHMBP2 A>G	11	68702765	68702765	A	G	IGHMBP2	c.1633-2A>G	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68702765A>G	(Likely) pathogenic	1 lab	fe4ab20603
4:188924050 ZFP42 G>A	4	188924050	188924050	G	A	ZFP42	c.89G>A	NM_174900.5	NP_777560.2:p.(Gly30Asp)	NC_000004.11:g.188924050G>A	(Likely) benign	1 lab	fe4bebb0cb
2:152422294 NEB C>T	2	152422294	152422294	C	T	NEB	c.18197G>A	NM_001164508.2	NP_001157980.2:p.(Gly6066Asp)	NC_000002.11:g.152422294C>T	VUS	1 lab	fe4c60e6e7
1:43126581 PPIH T>C	1	43126581	43126581	T	C	PPIH	c.243+6T>C	NM_006347.4	NP_006338.1:p.?	NC_000001.10:g.43126581T>C	(Likely) benign	1 lab	fe4cb22380
15:57731649 CGNL1 GC>G	15	57731649	57731652	GC	G	CGNL1	c.1455del	NM_032866.5	NP_116255.2:p.(Ser486ProfsTer12)	NC_000015.9:g.57731652del	(Likely) benign	1 lab	fe4d2b2632
3:14200334 XPC G>T	3	14200334	14200334	G	T	XPC	c.1049C>A	NM_004628.5	NP_004619.3:p.(Ser350Tyr)	NC_000003.11:g.14200334G>T	(Likely) benign	1 lab	fe4da02505
8:2092835 MYOM2 C>T	8	2092835	2092835	C	T	MYOM2	c.4328C>T	NM_003970.4	NP_003961.3:p.(Pro1443Leu)	NC_000008.10:g.2092835C>T	VUS	1 lab	fe4ddbcb7d
12:53859708 PCBP2 T>A	12	53859708	53859708	T	A	PCBP2	c.673-8T>A	NM_031989.5	NP_114366.1:p.?	NC_000012.11:g.53859708T>A	(Likely) benign	1 lab	fe4e0616ff
18:59854886 RELCH G>A	18	59854886	59854886	G	A	RELCH	c.148G>A	NM_001346231.2	NP_001333160.1:p.(Gly50Ser)	NC_000018.9:g.59854886G>A	(Likely) benign	1 lab	fe4e661ddc
6:152647662 SYNE1 T>C	6	152647662	152647662	T	C	SYNE1	c.15062A>G	NM_182961.4	NP_892006.3:p.(Asn5021Ser)	NC_000006.11:g.152647662T>C	VUS	1 lab	fe50f68496
9:135947028 CEL C>T	9	135947028	135947028	C	T	CEL	c.2139C>T	NM_001807.6	NP_001798.3:p.(Pro713=)	NC_000009.11:g.135947028C>T	(Likely) benign	1 lab	fe524688f2
1:209965659 IRF6 G>A	1	209965659	209965659	G	A	IRF6	c.622C>T	NM_006147.4	NP_006138.1:p.(Gln208Ter)	NC_000001.10:g.209965659G>A	VUS	1 lab	3279f56c37
4:1806570 FGFR3 C>T	4	1806570	1806570	C	T	FGFR3	c.1286C>T	NM_000142.5	NP_000133.1:p.(Ala429Val)	NC_000004.11:g.1806570C>T	VUS	1 lab	fe537420ed
X:101857095 ARMCX5 G>A	X	101857095	101857095	G	A	ARMCX5	c.26G>A	NM_001168478.2	NP_001161950.1:p.(Arg9Lys)	NC_000023.10:g.101857095G>A	(Likely) benign	1 lab	fe574b1efe
14:29238047 FOXG1 GC>G	14	29238047	29238055	GC	G	FOXG1	c.*100del	NM_005249.5	NP_005240.3:p.?	NC_000014.8:g.29238055del	(Likely) benign	1 lab	327b4c2764
12:132510311 EP400 C>T	12	132510311	132510311	C	T	EP400	c.4976C>T	NM_015409.5	NP_056224.3:p.(Pro1659Leu)	NC_000012.11:g.132510311C>T	(Likely) benign	1 lab	fe5818be11
X:54496518 FGD1 G>C	X	54496518	54496518	G	C	FGD1	c.1032C>G	NM_004463.3	NP_004454.2:p.(Asp344Glu)	NC_000023.10:g.54496518G>C	(Likely) benign	1 lab	fe58727c66
18:31250724 ASXL3 G>A	18	31250724	31250724	G	A	ASXL3	c.565G>A	NM_030632.3	NP_085135.1:p.(Val189Met)	NC_000018.9:g.31250724G>A	VUS	1 lab	fe59007e53
X:2871176 ARSL G>A	X	2871176	2871176	G	A	ARSL	c.430+8C>T	NM_000047.3	NP_000038.2:p.?	NC_000023.10:g.2871176G>A	(Likely) benign	1 lab	fe5b79463d
2:170063292 LRP2 G>A	2	170063292	170063292	G	A	LRP2	c.6938C>T	NM_004525.3	NP_004516.2:p.(Pro2313Leu)	NC_000002.11:g.170063292G>A	VUS	1 lab	fe5f9c82f2
15:64046853 HERC1 A>G	15	64046853	64046853	A	G	HERC1	c.1631-6T>C	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.64046853A>G	VUS	1 lab	fe603f51d3
18:31319791 ASXL3 C>G	18	31319791	31319791	C	G	ASXL3	c.2423C>G	NM_030632.3	NP_085135.1:p.(Pro808Arg)	NC_000018.9:g.31319791C>G	VUS	1 lab	fe608d15ab
17:80739594 TBCD CCTGGTAAGTG>C	17	80739594	80739607	CCTGGTAAGTG	C	TBCD	c.771+1_771+10del	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80739598_80739607del	(Likely) pathogenic	1 lab	fe61b4054a
5:149497199 PDGFRB C>A	5	149497199	149497199	C	A	PDGFRB	c.3119G>T	NM_002609.4	NP_002600.1:p.(Gly1040Val)	NC_000005.9:g.149497199C>A	(Likely) benign	1 lab	fe625a847d
14:30100164 PRKD1 C>T	14	30100164	30100164	C	T	PRKD1	c.1456G>A	NM_002742.3	NP_002733.2:p.(Gly486Arg)	NC_000014.8:g.30100164C>T	(Likely) benign	1 lab	fe64c8fbaf
17:76445548 DNAH17 C>T	17	76445548	76445548	C	T	DNAH17	c.11159G>A	NM_173628.4	NP_775899.3:p.(Arg3720Gln)	NC_000017.10:g.76445548C>T	VUS	1 lab	2f30edb92e
2:71791199 DYSF C>T	2	71791199	71791199	C	T	DYSF	c.2421C>T	NM_001130987.2	NP_001124459.1:p.(Ser807=)	NC_000002.11:g.71791199C>T	(Likely) benign	1 lab	fe6a12dff3
2:191927473 STAT4 T>A	2	191927473	191927473	T	A	STAT4	c.941+15A>T	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191927473T>A	(Likely) benign	1 lab	327cf16f9c
3:47163676 SETD2 A>G	3	47163676	47163676	A	G	SETD2	c.2450T>C	NM_014159.7	NP_054878.5:p.(Met817Thr)	NC_000003.11:g.47163676A>G	(Likely) benign	1 lab	fe6a456bdd
1:116233737 VANGL1 C>T	1	116233737	116233737	C	T	VANGL1	c.1315-3C>T	NM_138959.3	NP_620409.1:p.?	NC_000001.10:g.116233737C>T	(Likely) benign	1 lab	fe6b8461ba
15:89392770 ACAN T>A	15	89392770	89392770	T	A	ACAN	c.1834T>A	NM_001369268.1	NP_001356197.1:p.(Tyr612Asn)	NC_000015.9:g.89392770T>A	VUS	1 lab	fe6d1d92f3
7:105205815 EFCAB10 C>A	7	105205815	105205815	C	A	EFCAB10	c.*79G>T	NM_001355526.2	NP_001342455.1:p.?	NC_000007.13:g.105205815C>A	(Likely) benign	1 lab	fe6ee3e5b5
19:9868408 ZNF846 C>A	19	9868408	9868408	C	A	ZNF846	c.1345G>T	NM_001077624.3	NP_001071092.1:p.(Ala449Ser)	NC_000019.9:g.9868408C>A	(Likely) benign	1 lab	fe6ef39f37
16:20801950 ACSM3 A>AG	16	20801950	20801952	A	AG	ACSM3	c.1268dup	NM_005622.4	NP_005613.2:p.(Asp424ArgfsTer21)	NC_000016.9:g.20801952dup	VUS	1 lab	fe6f25d145
5:89910915 ADGRV1 CTGTT>C	5	89910915	89910921	CTGTT	C	ADGRV1	c.207+82_207+85del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910918_89910921del	(Likely) benign	1 lab	3281a66818
3:9712803 MTMR14 A>G	3	9712803	9712803	A	G	MTMR14	c.626A>G	NM_001077525.3	NP_001070993.1:p.(Lys209Arg)	NC_000003.11:g.9712803A>G	(Likely) benign	1 lab	fe6f897554
17:4936861 SLC52A1 T>C	17	4936861	4936861	T	C	SLC52A1	c.923A>G	NM_017986.4	NP_060456.3:p.(Tyr308Cys)	NC_000017.10:g.4936861T>C	(Likely) benign	1 lab	fe7163ab5c
19:50364744 PNKP AGAG>A	19	50364744	50364750	AGAG	A	PNKP	c.1407_1409del	NM_007254.4	NP_009185.2:p.(Ser470del)	NC_000019.9:g.50364748_50364750del	VUS	1 lab	fe72cc2df2
20:35882632 GHRH C>T	20	35882632	35882632	C	T	GHRH	c.289G>A	NM_021081.6	NP_066567.1:p.(Ala97Thr)	NC_000020.10:g.35882632C>T	(Likely) benign	1 lab	fe73c8e93a
12:49440205 KMT2D C>T	12	49440205	49440205	C	T	KMT2D	c.4421G>A	NM_003482.4	NP_003473.3:p.(Cys1474Tyr)	NC_000012.11:g.49440205C>T	(Likely) pathogenic	1 lab	fe76098b8e
7:127255149 PAX4 C>A	7	127255149	127255149	C	A	PAX4	c.145G>T	NM_001366110.1	NP_001353039.1:p.(Val49Leu)	NC_000007.13:g.127255149C>A	(Likely) benign	1 lab	fe766a8b29
3:33060031 GLB1 C>T	3	33060031	33060031	C	T	GLB1	c.1256G>A	NM_000404.4	NP_000395.3:p.(Arg419Gln)	NC_000003.11:g.33060031C>T	VUS	1 lab	fe76d8c88d
9:136227285 SURF2 G>A	9	136227285	136227285	G	A	SURF2	c.662G>A	NM_017503.5	NP_059973.4:p.(Arg221Gln)	NC_000009.11:g.136227285G>A	(Likely) benign	1 lab	fe76e866c1
X:48838048 GRIPAP1 T>G	X	48838048	48838048	T	G	GRIPAP1	c.1733A>C	NM_020137.5	NP_064522.4:p.(Glu578Ala)	NC_000023.10:g.48838048T>G	(Likely) benign	1 lab	fe7809b846
20:44453129 TNNC2 C>T	20	44453129	44453129	C	T	TNNC2	c.199+5G>A	NM_003279.3	NP_003270.1:p.?	NC_000020.10:g.44453129C>T	(Likely) benign	1 lab	fe780b979e
8:79710402 IL7 C>T	8	79710402	79710402	C	T	IL7	c.52G>A	NM_000880.4	NP_000871.1:p.(Val18Ile)	NC_000008.10:g.79710402C>T	VUS	1 lab	fe783d6ecd
13:76301193 LMO7 A>G	13	76301193	76301193	A	G	LMO7	c.169A>G	NM_001306080.2	NP_001293009.1:p.(Ile57Val)	NC_000013.10:g.76301193A>G	(Likely) benign	1 lab	fe7b26b632
5:14389621 TRIO A>C	5	14389621	14389621	A	C	TRIO	c.4058+114A>C	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14389621A>C	(Likely) benign	1 lab	fe7cf84e92
11:6412125 SMPD1 C>G	11	6412125	6412125	C	G	SMPD1	c.297C>G	NM_000543.5	NP_000534.3:p.(Thr99=)	NC_000011.9:g.6412125C>G	(Likely) benign	1 lab	328425f461
1:169831884 SCYL3 C>T	1	169831884	169831884	C	T	SCYL3	c.1010G>A	NM_020423.7	NP_065156.5:p.(Arg337Gln)	NC_000001.10:g.169831884C>T	(Likely) benign	1 lab	fe820e5c44
10:123310979 FGFR2 T>A	10	123310979	123310979	T	A	FGFR2	c.455-6A>T	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123310979T>A	(Likely) benign	1 lab	fe83799ce7
16:51174104 SALL1 C>T	16	51174104	51174104	C	T	SALL1	c.2029G>A	NM_002968.3	NP_002959.2:p.(Gly677Arg)	NC_000016.9:g.51174104C>T	VUS	1 lab	2f31674fa2
3:182755096 MCCC1 C>G	3	182755096	182755096	C	G	MCCC1	c.1504G>C	NM_020166.5	NP_064551.3:p.(Ala502Pro)	NC_000003.11:g.182755096C>G	(Likely) benign	1 lab	fe862274a6
10:129914184 MKI67 T>C	10	129914184	129914184	T	C	MKI67	c.488A>G	NM_002417.5	NP_002408.3:p.(Lys163Arg)	NC_000010.10:g.129914184T>C	VUS	1 lab	fe869707d6
9:95021210 IARS1 C>A	9	95021210	95021210	C	A	IARS1	c.1942G>T	NM_002161.6	NP_002152.2:p.(Val648Phe)	NC_000009.11:g.95021210C>A	VUS	1 lab	fe869df381
12:57348905 RDH16 C>T	12	57348905	57348905	C	T	RDH16	c.357G>A	NM_003708.5	NP_003699.3:p.(Thr119=)	NC_000012.11:g.57348905C>T	(Likely) benign	1 lab	fe87d0f9aa
17:4805174 CHRNE A>C	17	4805174	4805174	A	C	CHRNE	c.500+53T>G	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4805174A>C	(Likely) benign	1 lab	fe899bdcb7
11:2182075 INS AC>A	11	2182075	2182076	AC	A	INS	c.126del	NM_000207.3	NP_000198.1:p.(Cys43AlafsTer88)	NC_000011.9:g.2182076del	(Likely) pathogenic	1 lab	fe8a40e62c
2:47702239 MSH2 C>G	2	47702239	47702239	C	G	MSH2	c.1835C>G	NM_000251.3	NP_000242.1:p.(Ser612Ter)	NC_000002.11:g.47702239C>G	(Likely) pathogenic	1 lab	2f33fe781c
16:70852360 HYDIN G>A	16	70852360	70852360	G	A	HYDIN	c.14543C>T	NM_001270974.2	NP_001257903.1:p.(Ala4848Val)	NC_000016.9:g.70852360G>A	(Likely) benign	1 lab	fe8d622a46
X:152913373 DUSP9 C>T	X	152913373	152913373	C	T	DUSP9	c.-35C>T	NM_001318503.2	NP_001305432.1:p.?	NC_000023.10:g.152913373C>T	VUS	1 lab	fe8dfb81a3
2:191746007 GLS A>G	2	191746007	191746007	A	G	GLS	c.197A>G	NM_014905.5	NP_055720.3:p.(Glu66Gly)	NC_000002.11:g.191746007A>G	(Likely) benign	1 lab	fe92a36e18
2:3405623 TRAPPC12 G>T	2	3405623	3405623	G	T	TRAPPC12	c.1123G>T	NM_016030.6	NP_057114.5:p.(Asp375Tyr)	NC_000002.11:g.3405623G>T	(Likely) benign	1 lab	fe93199cca
1:236714292 HEATR1 TA>T	1	236714292	236714310	TA	T	HEATR1	c.6347-3del	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714310del	(Likely) benign	1 lab	fe94094576
12:132400547 ULK1 C>G	12	132400547	132400547	C	G	ULK1	c.1721C>G	NM_003565.4	NP_003556.2:p.(Pro574Arg)	NC_000012.11:g.132400547C>G	(Likely) benign	1 lab	fe942fcfe1
12:6952249 GNB3 T>TG	12	6952249	6952256	T	TG	GNB3	c.203+16dup	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6952256dup	VUS	1 lab	ff3a1c0820
17:7490761 MPDU1 G>C	17	7490761	7490761	G	C	MPDU1	c.636G>C	NM_004870.4	NP_004861.2:p.(Leu212=)	NC_000017.10:g.7490761G>C	(Likely) benign	1 lab	fe983e417a
11:108178676 ATM G>A	11	108178676	108178676	G	A	ATM	c.5727G>A	NM_000051.4	NP_000042.3:p.(Met1909Ile)	NC_000011.9:g.108178676G>A	VUS	1 lab	fe9ae14664
12:41302274 CNTN1 T>A	12	41302274	41302274	T	A	CNTN1	c.40T>A	NM_001843.4	NP_001834.2:p.(Ser14Thr)	NC_000012.11:g.41302274T>A	VUS	1 lab	fe9bb6f7b5
17:30264425 SUZ12 GCCT>G	17	30264425	30264442	GCCT	G	SUZ12	c.175_177del	NM_015355.4	NP_056170.2:p.(Ser59del)	NC_000017.10:g.30264440_30264442del	VUS	1 lab	fe9bde7f67
13:108862424 LIG4 C>T	13	108862424	108862424	C	T	LIG4	c.1193G>A	NM_206937.2	NP_996820.1:p.(Gly398Asp)	NC_000013.10:g.108862424C>T	(Likely) benign	1 lab	fe9d950f38
9:2639968 VLDLR C>A	9	2639968	2639968	C	A	VLDLR	c.312C>A	NM_003383.5	NP_003374.3:p.(Ser104Arg)	NC_000009.11:g.2639968C>A	VUS	1 lab	fe9e1baf21
5:90086590 ADGRV1 AT>A	5	90086590	90086600	AT	A	ADGRV1	c.14044-90del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90086600del	(Likely) benign	1 lab	3285cbf4fc
15:43816979 MAP1A T>G	15	43816979	43816979	T	G	MAP1A	c.3308T>G	NM_002373.6	NP_002364.5:p.(Met1103Arg)	NC_000015.9:g.43816979T>G	(Likely) benign	1 lab	fe9e2dad07
3:71161787 FOXP1 G>A	3	71161787	71161787	G	A	FOXP1	c.182C>T	NM_001349338.3	NP_001336267.1:p.(Ala61Val)	NC_000003.11:g.71161787G>A	VUS	1 lab	fe9e565a7a
4:111539315 PITX2 C>T	4	111539315	111539315	C	T	PITX2	c.941G>A	NM_000325.6	NP_000316.2:p.(Ser314Asn)	NC_000004.11:g.111539315C>T	VUS	1 lab	fe9f453281
10:50944500 OGDHL C>T	10	50944500	50944500	C	T	OGDHL	c.2657G>A	NM_018245.3	NP_060715.2:p.(Arg886Gln)	NC_000010.10:g.50944500C>T	VUS	1 lab	fe9fb59ce2
X:135428519 ADGRG4 C>T	X	135428519	135428519	C	T	ADGRG4	c.2654C>T	NM_153834.4	NP_722576.3:p.(Ser885Phe)	NC_000023.10:g.135428519C>T	VUS	1 lab	fea5598f1d
7:99808689 STAG3 G>T	7	99808689	99808689	G	T	STAG3	c.3294G>T	NM_001282717.2	NP_001269646.1:p.(Gln1098His)	NC_000007.13:g.99808689G>T	VUS	1 lab	fea7aa172f
15:28953294 GOLGA8M T>C	15	28953294	28953294	T	C	GOLGA8M	c.374A>G	NM_001282468.3	NP_001269397.1:p.(Gln125Arg)	NC_000015.9:g.28953294T>C	(Likely) benign	1 lab	fea81d4c88
12:49373364 WNT1 G>A	12	49373364	49373364	G	A	WNT1	c.218G>A	NM_005430.4	NP_005421.1:p.(Arg73His)	NC_000012.11:g.49373364G>A	VUS	1 lab	fea9f408a4
5:40999802 MROH2B C>A	5	40999802	40999802	C	A	MROH2B	c.4562G>T	NM_173489.5	NP_775760.3:p.(Arg1521Met)	NC_000005.9:g.40999802C>A	VUS	1 lab	feaa0fc070
16:1500617 CLCN7 GGAA>G	16	1500617	1500624	GGAA	G	CLCN7	c.1495_1497del	NM_001287.6	NP_001278.1:p.(Phe499del)	NC_000016.9:g.1500622_1500624del	VUS	1 lab	feacc4b130
1:75097532 ERICH3 G>C	1	75097532	75097532	G	C	ERICH3	c.684C>G	NM_001002912.5	NP_001002912.4:p.(Asn228Lys)	NC_000001.10:g.75097532G>C	VUS	1 lab	feaf2a6f93
18:47431182 MYO5B G>A	18	47431182	47431182	G	A	MYO5B	c.2431C>T	NM_001080467.3	NP_001073936.1:p.(Arg811Trp)	NC_000018.9:g.47431182G>A	VUS	1 lab	feb01b8f12
15:49217116 SHC4 T>C	15	49217116	49217116	T	C	SHC4	c.616A>G	NM_203349.4	NP_976224.3:p.(Met206Val)	NC_000015.9:g.49217116T>C	VUS	1 lab	feb0e33970
9:6620176 GLDC T>C	9	6620176	6620176	T	C	GLDC	c.470+8A>G	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6620176T>C	(Likely) benign	1 lab	feb1945ea1
2:45169896 SIX3 G>A	2	45169896	45169896	G	A	SIX3	c.653G>A	NM_005413.4	NP_005404.1:p.(Arg218Gln)	NC_000002.11:g.45169896G>A	VUS	1 lab	feb3c9a1e3
1:39782084 MACF1 A>G	1	39782084	39782084	A	G	MACF1	c.3471A>G	NM_001394062.1	NP_001380991.1:p.(Ile1157Met)	NC_000001.10:g.39782084A>G	VUS	1 lab	feb3e77142
3:160025475 IFT80 G>A	3	160025475	160025475	G	A	IFT80	c.1052C>T	NM_020800.3	NP_065851.1:p.(Thr351Met)	NC_000003.11:g.160025475G>A	VUS	1 lab	feb423c394
6:129712625 LAMA2 AC>A	6	129712625	129712630	AC	A	LAMA2	c.5072-6del	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129712630del	(Likely) benign	1 lab	feb56ae7e0
16:84495623 ATP2C2 C>T	16	84495623	84495623	C	T	ATP2C2	c.2610C>T	NM_014861.4	NP_055676.3:p.(Leu870=)	NC_000016.9:g.84495623C>T	(Likely) benign	1 lab	feb65221b0
2:179455429 TTN A>G	2	179455429	179455429	A	G	TTN	c.61023T>C	NM_001267550.2	NP_001254479.2:p.(Tyr20341=)	NC_000002.11:g.179455429A>G	(Likely) benign	1 lab	feb66ecb64
12:6184645 VWF C>T	12	6184645	6184645	C	T	VWF	c.730G>A	NM_000552.5	NP_000543.3:p.(Glu244Lys)	NC_000012.11:g.6184645C>T	VUS	1 lab	feb69eac45
6:33411385 SYNGAP1 G>A	6	33411385	33411385	G	A	SYNGAP1	c.3056G>A	NM_006772.3	NP_006763.2:p.(Arg1019His)	NC_000006.11:g.33411385G>A	(Likely) benign	1 lab	feb7045eb2
3:69026294 EOGT G>A	3	69026294	69026294	G	A	EOGT	c.*475C>T	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69026294G>A	(Likely) benign	1 lab	feb7dd00c9
1:109813620 CELSR2 C>T	1	109813620	109813620	C	T	CELSR2	c.7555C>T	NM_001408.3	NP_001399.1:p.(Leu2519Phe)	NC_000001.10:g.109813620C>T	VUS	1 lab	2f393be30f
6:50791290 TFAP2B C>T	6	50791290	50791290	C	T	TFAP2B	c.252C>T	NM_003221.4	NP_003212.2:p.(Asp84=)	NC_000006.11:g.50791290C>T	(Likely) benign	1 lab	feb8ff52bf
2:152372974 NEB C>T	2	152372974	152372974	C	T	NEB	c.22904G>A	NM_001164508.2	NP_001157980.2:p.(Gly7635Glu)	NC_000002.11:g.152372974C>T	(Likely) benign	1 lab	febe7f20f1
20:479895 CSNK2A1 ATACC>A	20	479895	479900	ATACC	A	CSNK2A1	c.366_366+3del	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.479897_479900del	(Likely) pathogenic	1 lab	fec04d885c
2:220285224 DES G>A	2	220285224	220285224	G	A	DES	c.743G>A	NM_001927.4	NP_001918.3:p.(Arg248His)	NC_000002.11:g.220285224G>A	VUS	1 lab	2f3ab22856
2:71801486 DYSF C>G	2	71801486	71801486	C	G	DYSF	c.3387C>G	NM_001130987.2	NP_001124459.1:p.(Ala1129=)	NC_000002.11:g.71801486C>G	(Likely) benign	1 lab	fec1b7b786
9:86465079 KIF27 C>T	9	86465079	86465079	C	T	KIF27	c.3491G>A	NM_017576.4	NP_060046.1:p.(Arg1164Gln)	NC_000009.11:g.86465079C>T	(Likely) benign	1 lab	fec1c65912
16:89346751 ANKRD11 TGAA>T	16	89346751	89346758	TGAA	T	ANKRD11	c.6196_6198del	NM_013275.6	NP_037407.4:p.(Phe2066del)	NC_000016.9:g.89346756_89346758del	(Likely) benign	1 lab	fec212bcfe
20:60578322 TAF4 C>T	20	60578322	60578322	C	T	TAF4	c.2380G>A	NM_003185.4	NP_003176.2:p.(Val794Met)	NC_000020.10:g.60578322C>T	VUS	1 lab	fec26ad521
12:133202367 POLE C>G	12	133202367	133202367	C	G	POLE	c.6532-11G>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133202367C>G	VUS	1 lab	fed3dcbad4
15:89398763 ACAN G>C	15	89398763	89398763	G	C	ACAN	c.2947G>C	NM_001369268.1	NP_001356197.1:p.(Glu983Gln)	NC_000015.9:g.89398763G>C	(Likely) benign	1 lab	fec2d7466c
15:90188375 KIF7 C>T	15	90188375	90188375	C	T	KIF7	c.2060G>A	NM_198525.3	NP_940927.2:p.(Arg687Gln)	NC_000015.9:g.90188375C>T	(Likely) benign	1 lab	fec31085c8
12:4488692 FGF23 C>T	12	4488692	4488692	C	T	FGF23	c.57G>A	NM_020638.3	NP_065689.1:p.(Met19Ile)	NC_000012.11:g.4488692C>T	VUS	1 lab	fec334631d
19:8993036 MUC16 G>T	19	8993036	8993036	G	T	MUC16	c.44249C>A	NM_001401501.2	NP_001388430.1:p.(Thr14750Asn)	NC_000019.9:g.8993036G>T	(Likely) benign	1 lab	fecbdbd036
X:70522155 ITGB1BP2 T>G	X	70522155	70522155	T	G	ITGB1BP2	c.143T>G	NM_012278.4	NP_036410.1:p.(Val48Gly)	NC_000023.10:g.70522155T>G	VUS	1 lab	feccdd23e7
19:56544146 NLRP5 A>T	19	56544146	56544146	A	T	NLRP5	c.2446A>T	NM_153447.4	NP_703148.4:p.(Met816Leu)	NC_000019.9:g.56544146A>T	(Likely) benign	1 lab	fecdcc65ac
1:23279604 LACTBL1 C>T	1	23279604	23279604	C	T	LACTBL1	c.1672G>A	NM_001289974.2	NP_001276903.1:p.(Asp558Asn)	NC_000001.10:g.23279604C>T	(Likely) benign	1 lab	fece12ff0c
5:42565959 GHR A>T	5	42565959	42565959	A	T	GHR	c.-11-7A>T	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42565959A>T	VUS	1 lab	ff8742db11
22:24717510 SPECC1L C>T	22	24717510	24717510	C	T	SPECC1L	c.562C>T	NM_015330.6	NP_056145.5:p.(Leu188Phe)	NC_000022.10:g.24717510C>T	(Likely) benign	1 lab	fece6973c9
4:1807205 FGFR3 TGAG>T	4	1807205	1807212	TGAG	T	FGFR3	c.1534+7_1534+9del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807210_1807212del	VUS	1 lab	fecf2d59b8
20:61444244 OGFR C>T	20	61444244	61444244	C	T	OGFR	c.1277C>T	NM_007346.4	NP_031372.2:p.(Thr426Met)	NC_000020.10:g.61444244C>T	(Likely) benign	1 lab	fecf3e62bd
10:50708600 ERCC6 G>A	10	50708600	50708600	G	A	ERCC6	c.1669C>T	NM_000124.4	NP_000115.1:p.(Arg557Cys)	NC_000010.10:g.50708600G>A	VUS	1 lab	fecfcacdc3
6:129674481 LAMA2 C>T	6	129674481	129674481	C	T	LAMA2	c.4696C>T	NM_000426.4	NP_000417.3:p.(Arg1566Cys)	NC_000006.11:g.129674481C>T	(Likely) benign	1 lab	fed0e503a3
X:34148670 FAM47A G>C	X	34148670	34148670	G	C	FAM47A	c.1726C>G	NM_203408.4	NP_981953.2:p.(Arg576Gly)	NC_000023.10:g.34148670G>C	VUS	1 lab	fed11519a2
21:34923777 SON C>T	21	34923777	34923777	C	T	SON	c.2240C>T	NM_138927.4	NP_620305.3:p.(Ala747Val)	NC_000021.8:g.34923777C>T	VUS	1 lab	fed39b8b12
19:57932847 ZNF17 T>C	19	57932847	57932847	T	C	ZNF17	c.1993T>C	NM_001330617.2	NP_001317546.1:p.(Ter665GlnextTer5)	NC_000019.9:g.57932847T>C	VUS	1 lab	fed3f88d2b
8:144995814 PLEC C>T	8	144995814	144995814	C	T	PLEC	c.8175G>A	NM_201384.3	NP_958786.1:p.(Thr2725=)	NC_000008.10:g.144995814C>T	(Likely) benign	1 lab	fed466f285
19:7687730 XAB2 T>C	19	7687730	7687730	T	C	XAB2	c.1289A>G	NM_020196.3	NP_064581.2:p.(Asp430Gly)	NC_000019.9:g.7687730T>C	VUS	1 lab	fed521da23
9:135277967 TTF1 G>T	9	135277967	135277967	G	T	TTF1	c.242C>A	NM_007344.4	NP_031370.2:p.(Ser81Tyr)	NC_000009.11:g.135277967G>T	(Likely) benign	1 lab	fed61af264
5:134210220 TXNDC15 G>A	5	134210220	134210220	G	A	TXNDC15	c.103G>A	NM_024715.4	NP_078991.3:p.(Val35Ile)	NC_000005.9:g.134210220G>A	VUS	1 lab	fed67b80f7
1:196398736 KCNT2 A>C	1	196398736	196398736	A	C	KCNT2	c.790T>G	NM_198503.5	NP_940905.2:p.(Cys264Gly)	NC_000001.10:g.196398736A>C	VUS	1 lab	fed7235a5f
6:74210390 MTO1 A>G	6	74210390	74210390	A	G	MTO1	c.2011A>G	NM_012123.4	NP_036255.2:p.(Met671Val)	NC_000006.11:g.74210390A>G	(Likely) benign	1 lab	fed7d27164
9:135946657 CEL G>GC	9	135946657	135946665	G	GC	CEL	c.1776dup	NM_001807.6	NP_001798.3:p.(Val593ArgfsTer6)	NC_000009.11:g.135946665dup	VUS	1 lab	fed8ba81c9
10:73406230 CDH23 G>C	10	73406230	73406230	G	C	CDH23	c.1305G>C	NM_022124.6	NP_071407.4:p.(Glu435Asp)	NC_000010.10:g.73406230G>C	(Likely) benign	1 lab	fed8e82c0f
14:63447979 KCNH5 G>T	14	63447979	63447979	G	T	KCNH5	c.553C>A	NM_139318.5	NP_647479.2:p.(Leu185Ile)	NC_000014.8:g.63447979G>T	(Likely) benign	1 lab	fedaafb2cb
5:480033 SLC9A3 C>T	5	480033	480033	C	T	SLC9A3	c.1565G>A	NM_004174.4	NP_004165.2:p.(Arg522Gln)	NC_000005.9:g.480033C>T	(Likely) benign	1 lab	fedac972ae
21:47418871 COL6A1 G>A	21	47418871	47418871	G	A	COL6A1	c.1672G>A	NM_001848.3	NP_001839.2:p.(Asp558Asn)	NC_000021.8:g.47418871G>A	VUS	1 lab	fedb9306aa
9:88356841 AGTPBP1 CGGCGGCGGCGCTGGA>C	9	88356841	88356864	CGGCGGCGGCGCTGGA	C	AGTPBP1	c.-200_-186del	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88356850_88356864del	VUS	1 lab	fedcc66fec
14:50697970 SOS2 A>T	14	50697970	50697970	A	T	SOS2	c.32T>A	NM_006939.4	NP_008870.2:p.(Phe11Tyr)	NC_000014.8:g.50697970A>T	VUS	1 lab	feddf25d83
17:30325979 SUZ12 G>A	17	30325979	30325979	G	A	SUZ12	c.2177G>A	NM_015355.4	NP_056170.2:p.(Ser726Asn)	NC_000017.10:g.30325979G>A	(Likely) benign	1 lab	fede0c0ec0
4:79396675 FRAS1 G>A	4	79396675	79396675	G	A	FRAS1	c.7766G>A	NM_025074.7	NP_079350.5:p.(Cys2589Tyr)	NC_000004.11:g.79396675G>A	VUS	1 lab	fede4202a1
2:55889107 PNPT1 C>T	2	55889107	55889107	C	T	PNPT1	c.1231G>A	NM_033109.5	NP_149100.2:p.(Val411Ile)	NC_000002.11:g.55889107C>T	(Likely) benign	1 lab	fede4bd4df
1:155330526 ASH1L G>A	1	155330526	155330526	G	A	ASH1L	c.6687-326C>T	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155330526G>A	(Likely) benign	1 lab	fedf4f8f65
12:49446112 KMT2D G>A	12	49446112	49446112	G	A	KMT2D	c.1354C>T	NM_003482.4	NP_003473.3:p.(Pro452Ser)	NC_000012.11:g.49446112G>A	VUS	1 lab	fedf76641c
16:1636246 IFT140 C>T	16	1636246	1636246	C	T	IFT140	c.1040G>A	NM_014714.4	NP_055529.2:p.(Arg347Gln)	NC_000016.9:g.1636246C>T	VUS	1 lab	fee0968c9a
14:91739990 CCDC88C G>C	14	91739990	91739990	G	C	CCDC88C	c.5066C>G	NM_001080414.4	NP_001073883.2:p.(Pro1689Arg)	NC_000014.8:g.91739990G>C	(Likely) benign	1 lab	fee10efa2e
6:44271920 AARS2 G>T	6	44271920	44271920	G	T	AARS2	c.2005C>A	NM_020745.4	NP_065796.2:p.(Gln669Lys)	NC_000006.11:g.44271920G>T	VUS	1 lab	fee1f8cfad
20:43048423 HNF4A C>T	20	43048423	43048423	C	T	HNF4A	c.799C>T	NM_000457.5	NP_000448.3:p.(Arg267Cys)	NC_000020.10:g.43048423C>T	(Likely) pathogenic	1 lab	fee1facc4a
10:124248442 HTRA1 G>A	10	124248442	124248442	G	A	HTRA1	c.497G>A	NM_002775.5	NP_002766.1:p.(Arg166His)	NC_000010.10:g.124248442G>A	(Likely) pathogenic	1 lab	fee2a6a512
22:19754151 TBX1 A>C	22	19754151	19754151	A	C	TBX1	c.1276A>C	NM_001379200.1	NP_001366129.1:p.(Lys426Gln)	NC_000022.10:g.19754151A>C	VUS	1 lab	fee6392ea4
11:67888435 CHKA G>GGGCAGC	11	67888435	67888462	G	GGGCAGC	CHKA	c.204_209dup	NM_001277.3	NP_001268.2:p.(Leu69_Pro70dup)	NC_000011.9:g.67888457_67888462dup	VUS	1 lab	fee65d5ace
11:65998052 PACS1 A>G	11	65998052	65998052	A	G	PACS1	c.1408A>G	NM_018026.4	NP_060496.2:p.(Ser470Gly)	NC_000011.9:g.65998052A>G	(Likely) benign	1 lab	fee7167e48
13:25473675 CPAP C>T	13	25473675	25473675	C	T	CPAP	c.2873G>A	NM_018451.5	NP_060921.3:p.(Arg958Gln)	NC_000013.10:g.25473675C>T	VUS	1 lab	fee74a9d58
14:58954704 KIAA0586 A>G	14	58954704	58954704	A	G	KIAA0586	c.3404A>G	NM_001329943.3	NP_001316872.1:p.(Asp1135Gly)	NC_000014.8:g.58954704A>G	VUS	1 lab	fee78f6b54
10:89473068 PAPSS2 G>T	10	89473068	89473068	G	T	PAPSS2	c.381+1G>T	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068G>T	(Likely) benign	1 lab	fee8898959
5:76932858 OTP C>G	5	76932858	76932858	C	G	OTP	c.235G>C	NM_032109.3	NP_115485.1:p.(Asp79His)	NC_000005.9:g.76932858C>G	VUS	1 lab	fee88adaae
12:88508281 CEP290 T>G	12	88508281	88508281	T	G	CEP290	c.1968A>C	NM_025114.4	NP_079390.3:p.(Gln656His)	NC_000012.11:g.88508281T>G	(Likely) benign	1 lab	fee919de2e
14:103452886 CDC42BPB C>T	14	103452886	103452886	C	T	CDC42BPB	c.628G>A	NM_006035.4	NP_006026.3:p.(Val210Met)	NC_000014.8:g.103452886C>T	VUS	1 lab	fee9359d5f
15:89388798 ACAN G>A	15	89388798	89388798	G	A	ACAN	c.1114G>A	NM_001369268.1	NP_001356197.1:p.(Val372Ile)	NC_000015.9:g.89388798G>A	(Likely) benign	1 lab	feeac58ff6
X:57313382 FAAH2 C>T	X	57313382	57313382	C	T	FAAH2	c.124C>T	NM_174912.4	NP_777572.2:p.(Arg42Trp)	NC_000023.10:g.57313382C>T	(Likely) benign	1 lab	feec4100cd
X:153037428 PLXNB3 G>A	X	153037428	153037428	G	A	PLXNB3	c.2627G>A	NM_005393.3	NP_005384.2:p.(Arg876Gln)	NC_000023.10:g.153037428G>A	VUS	1 lab	feecc4f0c2
20:57599401 TUBB1 C>T	20	57599401	57599401	C	T	TUBB1	c.919C>T	NM_030773.3	NP_110400.1:p.(Arg307Cys)	NC_000020.10:g.57599401C>T	(Likely) benign	1 lab	32898cd4ce
2:44559627 PREPL G>A	2	44559627	44559627	G	A	PREPL	c.1057C>T	NM_001171613.2	NP_001165084.1:p.(Arg353Cys)	NC_000002.11:g.44559627G>A	VUS	1 lab	feef1d2502
X:153660166 ATP6AP1 TC>T	X	153660166	153660169	TC	T	ATP6AP1	c.289-7del	NM_001183.6	NP_001174.2:p.?	NC_000023.10:g.153660169del	(Likely) benign	1 lab	feef213254
X:69719094 DLG3 G>A	X	69719094	69719094	G	A	DLG3	c.1939G>A	NM_021120.4	NP_066943.2:p.(Glu647Lys)	NC_000023.10:g.69719094G>A	VUS	1 lab	fef1b5a809
16:86544215 FOXF1 G>C	16	86544215	86544215	G	C	FOXF1	c.40G>C	NM_001451.3	NP_001442.2:p.(Gly14Arg)	NC_000016.9:g.86544215G>C	VUS	1 lab	fef2be6c24
11:125912707 CDON C>T	11	125912707	125912707	C	T	CDON	c.-61-19275G>A	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125912707C>T	(Likely) benign	1 lab	fef2cacf24
X:46951191 RGN G>T	X	46951191	46951191	G	T	RGN	c.677G>T	NM_152869.4	NP_690608.1:p.(Arg226Leu)	NC_000023.10:g.46951191G>T	VUS	1 lab	fef2d3ef3c
4:5812109 EVC AAG>A	4	5812109	5812113	AAG	A	EVC	c.2829_2830del	NM_153717.3	NP_714928.1:p.(Asp945ProfsTer7)	NC_000004.11:g.5812112_5812113del	VUS	1 lab	fef39d4cc4
2:121691432 GLI2 G>GC	2	121691432	121691435	G	GC	GLI2	c.254+6393dup	NM_001374353.1	NP_001361282.1:p.?	NC_000002.11:g.121691435dup	(Likely) benign	1 lab	fef403e45d
1:32742311 LCK A>G	1	32742311	32742311	A	G	LCK	c.888A>G	NM_001042771.2	NP_001036236.1:p.(Gln296=)	NC_000001.10:g.32742311A>G	(Likely) benign	1 lab	328a00a152
17:34858954 MYO19 G>A	17	34858954	34858954	G	A	MYO19	c.2063C>T	NM_001163735.2	NP_001157207.1:p.(Pro688Leu)	NC_000017.10:g.34858954G>A	VUS	1 lab	fef69b9863
6:159660857 FNDC1 A>G	6	159660857	159660857	A	G	FNDC1	c.4489A>G	NM_032532.3	NP_115921.2:p.(Thr1497Ala)	NC_000006.11:g.159660857A>G	(Likely) benign	1 lab	fefa1a00ff
16:18532238 NOMO2 C>A	16	18532238	18532238	C	A	NOMO2	c.2122G>T	NM_173614.4	NP_775885.1:p.(Glu708Ter)	NC_000016.9:g.18532238C>A	VUS	1 lab	fefbae4336
2:238277670 COL6A3 T>C	2	238277670	238277670	T	C	COL6A3	c.4436A>G	NM_004369.4	NP_004360.2:p.(Gln1479Arg)	NC_000002.11:g.238277670T>C	VUS	1 lab	fefc112303
12:32751494 FGD4 G>A	12	32751494	32751494	G	A	FGD4	c.1075G>A	NM_001370298.3	NP_001357227.2:p.(Val359Ile)	NC_000012.11:g.32751494G>A	VUS	1 lab	fefcf848aa
X:100749576 ARMCX4 G>T	X	100749576	100749576	G	T	ARMCX4	c.6000G>T	NM_001256155.3	NP_001243084.2:p.(Lys2000Asn)	NC_000023.10:g.100749576G>T	VUS	1 lab	fefd0aca5c
14:105411806 AHNAK2 G>C	14	105411806	105411806	G	C	AHNAK2	c.9982C>G	NM_138420.4	NP_612429.2:p.(Gln3328Glu)	NC_000014.8:g.105411806G>C	(Likely) benign	1 lab	fefe705487
21:28214980 ADAMTS1 C>T	21	28214980	28214980	C	T	ADAMTS1	c.755G>A	NM_006988.5	NP_008919.3:p.(Arg252Gln)	NC_000021.8:g.28214980C>T	VUS	1 lab	feffe327ac
9:135939820 CEL C>G	9	135939820	135939820	C	G	CEL	c.96C>G	NM_001807.6	NP_001798.3:p.(Phe32Leu)	NC_000009.11:g.135939820C>G	(Likely) benign	1 lab	fefff5167b
7:147914533 CNTNAP2 T>G	7	147914533	147914533	T	G	CNTNAP2	c.3164T>G	NM_014141.6	NP_054860.1:p.(Phe1055Cys)	NC_000007.13:g.147914533T>G	VUS	1 lab	ff022dda6c
3:188327528 LPP G>C	3	188327528	188327528	G	C	LPP	c.1009G>C	NM_001375462.1	NP_001362391.1:p.(Ala337Pro)	NC_000003.11:g.188327528G>C	VUS	1 lab	ff0248a35b
21:34897137 GART C>G	21	34897137	34897137	C	G	GART	c.1237G>C	NM_000819.5	NP_000810.1:p.(Glu413Gln)	NC_000021.8:g.34897137C>G	VUS	1 lab	ff03af757b
11:64402774 NRXN2 G>A	11	64402774	64402774	G	A	NRXN2	c.3554C>T	NM_015080.4	NP_055895.1:p.(Ser1185Phe)	NC_000011.9:g.64402774G>A	VUS	1 lab	ff04339f7a
22:28195602 MN1 ATGC>A	22	28195602	28195622	ATGC	A	MN1	c.927_929del	NM_002430.3	NP_002421.3:p.(Gln309del)	NC_000022.10:g.28195620_28195622del	(Likely) benign	1 lab	ff04beac1d
1:152186860 HRNR C>A	1	152186860	152186860	C	A	HRNR	c.7245G>T	NM_001009931.3	NP_001009931.1:p.(Gln2415His)	NC_000001.10:g.152186860C>A	VUS	1 lab	ff0553ad94
18:3452225 TGIF1 CT>C	18	3452225	3452226	CT	C	TGIF1	c.16+1723del	NM_003244.4	NP_003235.1:p.?	NC_000018.9:g.3452226del	VUS	1 lab	ff0654cd88
3:151165106 IGSF10 T>G	3	151165106	151165106	T	G	IGSF10	c.2663A>C	NM_178822.5	NP_849144.2:p.(Gln888Pro)	NC_000003.11:g.151165106T>G	VUS	1 lab	ff0735d928
12:121437203 HNF1A G>A	12	121437203	121437203	G	A	HNF1A	c.1623+11G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121437203G>A	(Likely) benign	1 lab	ff0b299e58
21:35255988 ITSN1 G>A	21	35255988	35255988	G	A	ITSN1	c.4676+13G>A	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35255988G>A	(Likely) benign	1 lab	328ad3cf49
22:41513695 EP300 G>A	22	41513695	41513695	G	A	EP300	c.599G>A	NM_001429.4	NP_001420.2:p.(Arg200Gln)	NC_000022.10:g.41513695G>A	(Likely) benign	1 lab	ff0de041ab
5:176793885 RGS14 C>T	5	176793885	176793885	C	T	RGS14	c.340-7C>T	NM_006480.5	NP_006471.2:p.?	NC_000005.9:g.176793885C>T	VUS	1 lab	ff0fa39cd2
17:8383805 MYH10 C>T	17	8383805	8383805	C	T	MYH10	c.5303G>A	NM_001256012.3	NP_001242941.1:p.(Arg1768Gln)	NC_000017.10:g.8383805C>T	VUS	1 lab	ff110c7f27
17:704289 NXN C>T	17	704289	704289	C	T	NXN	c.1208G>A	NM_022463.5	NP_071908.2:p.(Arg403Gln)	NC_000017.10:g.704289C>T	VUS	1 lab	ff122f32eb
4:79440589 FRAS1 C>T	4	79440589	79440589	C	T	FRAS1	c.10494C>T	NM_025074.7	NP_079350.5:p.(Thr3498=)	NC_000004.11:g.79440589C>T	(Likely) benign	1 lab	32d145f615
10:75552519 ZSWIM8 G>A	10	75552519	75552519	G	A	ZSWIM8	c.2222G>A	NM_001367799.1	NP_001354728.1:p.(Gly741Glu)	NC_000010.10:g.75552519G>A	(Likely) benign	1 lab	ff1260cd7f
X:24382373 SUPT20HL1 TTGCTGCTGCTGCTGCTGCTGCTGC>T	X	24382373	24382428	TTGCTGCTGCTGCTGCTGCTGCTGC	T	SUPT20HL1	c.1528_1551del	NM_001136234.3	NP_001129706.3:p.(Ala510_Ala517del)	NC_000023.10:g.24382405_24382428del	VUS	1 lab	ff135d30a7
17:12909099 ELAC2 C>T	17	12909099	12909099	C	T	ELAC2	c.841G>A	NM_018127.7	NP_060597.4:p.(Gly281Arg)	NC_000017.10:g.12909099C>T	VUS	1 lab	ff144a3ddc
2:86292598 POLR1A A>G	2	86292598	86292598	A	G	POLR1A	c.1867-10T>C	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86292598A>G	(Likely) benign	1 lab	ff17c75f5c
15:89388919 ACAN T>A	15	89388919	89388919	T	A	ACAN	c.1235T>A	NM_001369268.1	NP_001356197.1:p.(Leu412Gln)	NC_000015.9:g.89388919T>A	(Likely) benign	1 lab	ff18d63306
11:134229033 GLB1L2 G>T	11	134229033	134229033	G	T	GLB1L2	c.731G>T	NM_001370461.1	NP_001357390.1:p.(Gly244Val)	NC_000011.9:g.134229033G>T	VUS	1 lab	ff19629670
9:33541216 ANKRD18B G>C	9	33541216	33541216	G	C	ANKRD18B	c.1069G>C	NM_001393611.1	NP_001380540.1:p.(Gly357Arg)	NC_000009.11:g.33541216G>C	(Likely) benign	1 lab	ff1a5214fc
4:6600016 MAN2B2 G>T	4	6600016	6600016	G	T	MAN2B2	c.1340G>T	NM_015274.3	NP_056089.1:p.(Arg447Leu)	NC_000004.11:g.6600016G>T	VUS	1 lab	fff774edaa
19:38964202 RYR1 C>T	19	38964202	38964202	C	T	RYR1	c.3951C>T	NM_000540.3	NP_000531.2:p.(Pro1317=)	NC_000019.9:g.38964202C>T	(Likely) benign	1 lab	ff1b79e27f
3:9100069 SRGAP3 C>T	3	9100069	9100069	C	T	SRGAP3	c.889G>A	NM_014850.4	NP_055665.1:p.(Glu297Lys)	NC_000003.11:g.9100069C>T	VUS	1 lab	ff1cce98de
1:202700994 KDM5B G>A	1	202700994	202700994	G	A	KDM5B	c.3983C>T	NM_006618.5	NP_006609.3:p.(Ser1328Phe)	NC_000001.10:g.202700994G>A	(Likely) benign	1 lab	ff1fc7eb10
1:6008260 NPHP4 G>A	1	6008260	6008260	G	A	NPHP4	c.862C>T	NM_015102.5	NP_055917.1:p.(Arg288Cys)	NC_000001.10:g.6008260G>A	VUS	1 lab	ff20bef457
15:44887530 SPG11 G>A	15	44887530	44887530	G	A	SPG11	c.4562C>T	NM_025137.4	NP_079413.3:p.(Ser1521Leu)	NC_000015.9:g.44887530G>A	VUS	1 lab	ff2276e6ce
15:65295438 MTFMT GCTT>G	15	65295438	65295447	GCTT	G	MTFMT	c.1129_1131del	NM_139242.4	NP_640335.2:p.(Lys377del)	NC_000015.9:g.65295445_65295447del	VUS	1 lab	ff242dd93e
X:151092935 MAGEA4 C>T	X	151092935	151092935	C	T	MAGEA4	c.799C>T	NM_001011548.1	NP_001011548.1:p.(Pro267Ser)	NC_000023.10:g.151092935C>T	VUS	1 lab	ff2570d6d8
13:78474049 EDNRB C>G	13	78474049	78474049	C	G	EDNRB	c.1139G>C	NM_001122659.3	NP_001116131.1:p.(Cys380Ser)	NC_000013.10:g.78474049C>G	VUS	1 lab	ff28d4559a
7:155595886 SHH A>G	7	155595886	155595886	A	G	SHH	c.1097T>C	NM_000193.4	NP_000184.1:p.(Val366Ala)	NC_000007.13:g.155595886A>G	VUS	1 lab	ff28f681f5
2:179440499 TTN G>C	2	179440499	179440499	G	C	TTN	c.70360C>G	NM_001267550.2	NP_001254479.2:p.(Leu23454Val)	NC_000002.11:g.179440499G>C	VUS	1 lab	ff2a7ad938
22:41546008 EP300 T>C	22	41546008	41546008	T	C	EP300	c.2623T>C	NM_001429.4	NP_001420.2:p.(Ser875Pro)	NC_000022.10:g.41546008T>C	(Likely) benign	1 lab	ff2af1705a
16:57250016 RSPRY1 C>T	16	57250016	57250016	C	T	RSPRY1	c.703-3C>T	NM_133368.3	NP_588609.1:p.?	NC_000016.9:g.57250016C>T	(Likely) benign	1 lab	ff2b7e43d5
19:46271953 SIX5 G>GGCC	19	46271953	46271968	G	GGCC	SIX5	c.147_149dup	NM_175875.5	NP_787071.3:p.(Ala50dup)	NC_000019.9:g.46271966_46271968dup	VUS	1 lab	ff2cad663f
17:78305797 RNF213 C>T	17	78305797	78305797	C	T	RNF213	c.3518-9C>T	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78305797C>T	(Likely) benign	1 lab	ff2d646b52
10:3178724 PFKP G>C	10	3178724	3178724	G	C	PFKP	c.2308G>C	NM_002627.5	NP_002618.1:p.(Val770Leu)	NC_000010.10:g.3178724G>C	VUS	1 lab	ff2deddb20
19:42837853 MEGF8 G>A	19	42837853	42837853	G	A	MEGF8	c.284G>A	NM_001271938.2	NP_001258867.1:p.(Arg95Gln)	NC_000019.9:g.42837853G>A	VUS	1 lab	ff33ed6e8a
19:36604484 OVOL3 A>T	19	36604484	36604484	A	T	OVOL3	c.494A>T	NM_001302757.2	NP_001289686.1:p.(His165Leu)	NC_000019.9:g.36604484A>T	VUS	1 lab	ff35613e59
5:112175675 APC AAGAG>A	5	112175675	112175685	AAGAG	A	APC	c.4391_4394del	NM_000038.6	NP_000029.2:p.(Glu1464ValfsTer8)	NC_000005.9:g.112175682_112175685del	(Likely) pathogenic	1 lab	ff37149135
17:76490156 DNAH17 C>G	17	76490156	76490156	C	G	DNAH17	c.6370G>C	NM_173628.4	NP_775899.3:p.(Val2124Leu)	NC_000017.10:g.76490156C>G	VUS	1 lab	ff39e3f654
19:13054627 CALR A>ATTGTC	19	13054627	13054628	A	ATTGTC	CALR	c.1154_1155insTTGTC	NM_004343.4	NP_004334.1:p.(Lys385AsnfsTer47)	NC_000019.9:g.13054627_13054628insTTGTC	(Likely) pathogenic	1 lab	ff3bc277a0
7:48317667 ABCA13 GTA>G	7	48317667	48317684	GTA	G	ABCA13	c.6900-8_6900-7del	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48317683_48317684del	(Likely) benign	1 lab	ff3d02d44b
9:137703213 COL5A1 G>A	9	137703213	137703213	G	A	COL5A1	c.3557G>A	NM_000093.5	NP_000084.3:p.(Gly1186Asp)	NC_000009.11:g.137703213G>A	VUS	1 lab	ff3d972f27
10:89473069 PAPSS2 T>TAAGAA	10	89473069	89473072	T	TAAGAA	PAPSS2	c.381+4_381+5insGAAAA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473071_89473072insGAAAA	(Likely) benign	1 lab	ff3f783295
4:1804779 FGFR3 G>A	4	1804779	1804779	G	A	FGFR3	c.931-640G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804779G>A	VUS	1 lab	ff3fb93734
15:42174845 SPTBN5 C>T	15	42174845	42174845	C	T	SPTBN5	c.1984G>A	NM_016642.4	NP_057726.4:p.(Val662Met)	NC_000015.9:g.42174845C>T	VUS	1 lab	ff411542f4
16:2143591 PKD1 G>A	16	2143591	2143591	G	A	PKD1	c.10970C>T	NM_001009944.3	NP_001009944.3:p.(Ala3657Val)	NC_000016.9:g.2143591G>A	VUS	1 lab	ff411f2ef2
22:50682582 TUBGCP6 G>T	22	50682582	50682582	G	T	TUBGCP6	c.307C>A	NM_020461.4	NP_065194.3:p.(Pro103Thr)	NC_000022.10:g.50682582G>T	(Likely) benign	1 lab	ff4121615e
13:46099151 COG3 A>G	13	46099151	46099151	A	G	COG3	c.2195A>G	NM_031431.4	NP_113619.3:p.(Lys732Arg)	NC_000013.10:g.46099151A>G	VUS	1 lab	ff4274c1ab
9:134014642 NUP214 CT>C	9	134014642	134014665	CT	C	NUP214	c.1006-3del	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134014665del	(Likely) benign	1 lab	ff43640750
1:1375141 VWA1 C>A	1	1375141	1375141	C	A	VWA1	c.1312C>A	NM_022834.5	NP_073745.2:p.(Pro438Thr)	NC_000001.10:g.1375141C>A	VUS	1 lab	ff44eec3c0
8:117868512 RAD21 C>CT	8	117868512	117868513	C	CT	RAD21	c.829dup	NM_006265.3	NP_006256.1:p.(Ser277LysfsTer3)	NC_000008.10:g.117868513dup	(Likely) pathogenic	1 lab	ff459acacb
9:16436390 BNC2 A>G	9	16436390	16436390	A	G	BNC2	c.1802T>C	NM_017637.6	NP_060107.3:p.(Ile601Thr)	NC_000009.11:g.16436390A>G	VUS	1 lab	ff4754220c
22:32241123 DEPDC5 G>A	22	32241123	32241123	G	A	DEPDC5	c.2921G>A	NM_001242896.3	NP_001229825.1:p.(Arg974His)	NC_000022.10:g.32241123G>A	(Likely) benign	1 lab	ff48212f00
2:215656997 BARD1 AAGAG>A	2	215656997	215657004	AAGAG	A	BARD1	c.364+20_364+23del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657001_215657004del	(Likely) benign	1 lab	ff49ce9cb5
17:15967422 NCOR1 T>TTCCCGC	17	15967422	15967437	T	TTCCCGC	NCOR1	c.5175_5180dup	NM_006311.4	NP_006302.2:p.(Glu1727_Arg1728dup)	NC_000017.10:g.15967432_15967437dup	VUS	1 lab	ff4a0f0d98
12:21995399 ABCC9 G>A	12	21995399	21995399	G	A	ABCC9	c.3322C>T	NM_005691.4	NP_005682.2:p.(Pro1108Ser)	NC_000012.11:g.21995399G>A	VUS	1 lab	2f3f779de2
8:86386051 CA2 CT>C	8	86386051	86386061	CT	C	CA2	c.351+21del	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86386061del	(Likely) benign	1 lab	3290232501
14:102252455 PPP2R5C G>A	14	102252455	102252455	G	A	PPP2R5C	c.194G>A	NM_001352913.2	NP_001339842.1:p.(Arg65Gln)	NC_000014.8:g.102252455G>A	VUS	1 lab	ff4ce5b0cb
16:2812107 SRRM2 A>T	16	2812107	2812107	A	T	SRRM2	c.1578A>T	NM_016333.4	NP_057417.3:p.(Arg526Ser)	NC_000016.9:g.2812107A>T	(Likely) benign	1 lab	ff4d9f63cc
12:65563668 LEMD3 C>T	12	65563668	65563668	C	T	LEMD3	c.292C>T	NM_014319.5	NP_055134.2:p.(Leu98Phe)	NC_000012.11:g.65563668C>T	(Likely) benign	1 lab	ff4dc44cd3
22:42557356 TCF20 C>T	22	42557356	42557356	C	T	TCF20	c.*53G>A	NM_001378418.1	NP_001365347.1:p.?	NC_000022.10:g.42557356C>T	(Likely) benign	1 lab	ff4e627aa4
16:53686695 RPGRIP1L T>C	16	53686695	53686695	T	C	RPGRIP1L	c.1904A>G	NM_015272.5	NP_056087.2:p.(Tyr635Cys)	NC_000016.9:g.53686695T>C	VUS	1 lab	ff4ea4108d
8:145622991 CPSF1 CCACTGCGGCCCCCG>GGCCGC	8	145622991	145623005	CCACTGCGGCCCCCG	GGCCGC	CPSF1	c.2163_2177delinsGCGGCC	NM_013291.3	NP_037423.2:p.(Gly722_Gly726delinsArgPro)	NC_000008.10:g.145622991_145623005delinsGGCCGC	VUS	1 lab	ff4f6bd6b7
6:43590520 GTPBP2 GT>G	6	43590520	43590521	GT	G	GTPBP2	c.1316del	NM_019096.5	NP_061969.3:p.(Asp439AlafsTer16)	NC_000006.11:g.43590521del	VUS	1 lab	ff4ff6a171
4:5570297 EVC2 C>T	4	5570297	5570297	C	T	EVC2	c.3431G>A	NM_147127.5	NP_667338.3:p.(Ser1144Asn)	NC_000004.11:g.5570297C>T	(Likely) benign	1 lab	ff511fd740
12:48369213 COL2A1 G>A	12	48369213	48369213	G	A	COL2A1	c.3773C>T	NM_001844.5	NP_001835.3:p.(Thr1258Ile)	NC_000012.11:g.48369213G>A	VUS	1 lab	ff513accc0
6:33148097 COL11A2 G>C	6	33148097	33148097	G	C	COL11A2	c.1297C>G	NM_080680.3	NP_542411.2:p.(Arg433Gly)	NC_000006.11:g.33148097G>C	VUS	1 lab	ff51a2b119
X:31200846 DMD TCC>T	X	31200846	31200848	TCC	T	DMD	c.9974+7_9974+8del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31200847_31200848del	(Likely) benign	1 lab	ff5302a885
3:141011925 PXYLP1 C>T	3	141011925	141011925	C	T	PXYLP1	c.1321C>T	NM_001037172.3	NP_001032249.1:p.(Arg441Cys)	NC_000003.11:g.141011925C>T	(Likely) benign	1 lab	ff54f482a4
9:135977082 RALGDS G>A	9	135977082	135977082	G	A	RALGDS	c.2279C>T	NM_006266.4	NP_006257.1:p.(Ser760Leu)	NC_000009.11:g.135977082G>A	(Likely) benign	1 lab	ff558974d4
1:40779909 COL9A2 G>A	1	40779909	40779909	G	A	COL9A2	c.217C>T	NM_001852.4	NP_001843.1:p.(Pro73Ser)	NC_000001.10:g.40779909G>A	VUS	1 lab	ff57c9395c
14:75515930 MLH3 C>T	14	75515930	75515930	C	T	MLH3	c.429G>A	NM_001040108.2	NP_001035197.1:p.(Gly143=)	NC_000014.8:g.75515930C>T	(Likely) benign	1 lab	ff57e9631e
1:112318730 KCND3 G>A	1	112318730	112318730	G	A	KCND3	c.1937C>T	NM_001378969.1	NP_001365898.1:p.(Ala646Val)	NC_000001.10:g.112318730G>A	(Likely) benign	1 lab	ff5a1b7526
15:99478137 IGF1R A>G	15	99478137	99478137	A	G	IGF1R	c.3041A>G	NM_000875.5	NP_000866.1:p.(Tyr1014Cys)	NC_000015.9:g.99478137A>G	VUS	1 lab	ff5c0fd3c0
15:56535399 RFX7 C>T	15	56535399	56535399	C	T	RFX7	c.85G>A	NM_022841.7	NP_073752.6:p.(Ala29Thr)	NC_000015.9:g.56535399C>T	VUS	1 lab	2f3fab8470
6:132207788 ENPP1 C>T	6	132207788	132207788	C	T	ENPP1	c.2531C>T	NM_006208.3	NP_006199.2:p.(Thr844Met)	NC_000006.11:g.132207788C>T	(Likely) benign	1 lab	ff5e35802d
6:33146086 COL11A2 G>C	6	33146086	33146086	G	C	COL11A2	c.1817C>G	NM_080680.3	NP_542411.2:p.(Ser606Trp)	NC_000006.11:g.33146086G>C	VUS	1 lab	ff5e687306
12:49427265 KMT2D TTGCTGC>T	12	49427265	49427286	TTGCTGC	T	KMT2D	c.11217_11222del	NM_003482.4	NP_003473.3:p.(Gln3744_Gln3745del)	NC_000012.11:g.49427281_49427286del	VUS	1 lab	ff608afce1
2:182542688 NEUROD1 G>A	2	182542688	182542688	G	A	NEUROD1	c.900C>T	NM_002500.5	NP_002491.3:p.(Thr300=)	NC_000002.11:g.182542688G>A	(Likely) benign	1 lab	ff619baeea
4:56230311 SRD5A3 C>CA	4	56230311	56230312	C	CA	SRD5A3	c.435_436insA	NM_024592.5	NP_078868.1:p.(Glu146ArgfsTer74)	NC_000004.11:g.56230311_56230312insA	VUS	1 lab	ff62f81fa3
5:13753565 DNAH5 A>C	5	13753565	13753565	A	C	DNAH5	c.10649T>G	NM_001369.3	NP_001360.1:p.(Met3550Arg)	NC_000005.9:g.13753565A>C	VUS	1 lab	ff633579a8
15:101432850 ALDH1A3 C>T	15	101432850	101432850	C	T	ALDH1A3	c.475+6C>T	NM_000693.4	NP_000684.2:p.?	NC_000015.9:g.101432850C>T	(Likely) benign	1 lab	ff66907be5
17:8409746 MYH10 G>T	17	8409746	8409746	G	T	MYH10	c.3276C>A	NM_001256012.3	NP_001242941.1:p.(Asp1092Glu)	NC_000017.10:g.8409746G>T	(Likely) benign	1 lab	ff678d469f
7:103162547 RELN G>T	7	103162547	103162547	G	T	RELN	c.7590C>A	NM_005045.4	NP_005036.2:p.(Asn2530Lys)	NC_000007.13:g.103162547G>T	VUS	1 lab	ff690b5ffa
4:140307349 NAA15 A>G	4	140307349	140307349	A	G	NAA15	c.2365A>G	NM_057175.5	NP_476516.1:p.(Thr789Ala)	NC_000004.11:g.140307349A>G	(Likely) benign	1 lab	ff6b8cdf1c
17:73726431 ITGB4 G>A	17	73726431	73726431	G	A	ITGB4	c.848G>A	NM_000213.5	NP_000204.3:p.(Arg283His)	NC_000017.10:g.73726431G>A	VUS	1 lab	ff6d1ab124
9:136508704 DBH G>A	9	136508704	136508704	G	A	DBH	c.914G>A	NM_000787.4	NP_000778.3:p.(Gly305Asp)	NC_000009.11:g.136508704G>A	VUS	1 lab	ff6d97af31
19:42791170 CIC C>T	19	42791170	42791170	C	T	CIC	c.2957C>T	NM_001386298.1	NP_001373227.1:p.(Ser986Leu)	NC_000019.9:g.42791170C>T	VUS	1 lab	ff6f1c14b0
17:18181667 TOP3A T>G	17	18181667	18181667	T	G	TOP3A	c.2149A>C	NM_004618.5	NP_004609.1:p.(Lys717Gln)	NC_000017.10:g.18181667T>G	VUS	1 lab	ff70188654
2:217293330 SMARCAL1 C>T	2	217293330	217293330	C	T	SMARCAL1	c.1159C>T	NM_014140.4	NP_054859.2:p.(Arg387Cys)	NC_000002.11:g.217293330C>T	VUS	1 lab	ff70a2ad94
15:65369838 KBTBD13 T>C	15	65369838	65369838	T	C	KBTBD13	c.685T>C	NM_001101362.3	NP_001094832.1:p.(Phe229Leu)	NC_000015.9:g.65369838T>C	VUS	1 lab	ff70e275a1
21:44479319 CBS C>T	21	44479319	44479319	C	T	CBS	c.1223+17G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44479319C>T	VUS	1 lab	ff711961b0
4:1808368 FGFR3 A>G	4	1808368	1808368	A	G	FGFR3	c.2126A>G	NM_000142.5	NP_000133.1:p.(Glu709Gly)	NC_000004.11:g.1808368A>G	VUS	1 lab	ff71c4e588
6:112430633 LAMA4 T>C	6	112430633	112430633	T	C	LAMA4	c.*7A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112430633T>C	VUS	1 lab	2f40f64569
14:57268620 OTX2 G>C	14	57268620	57268620	G	C	OTX2	c.727C>G	NM_021728.4	NP_068374.1:p.(Pro243Ala)	NC_000014.8:g.57268620G>C	(Likely) benign	1 lab	ff748e2cd0
10:32761422 CCDC7 C>G	10	32761422	32761422	C	G	CCDC7	c.691C>G	NM_001395015.1	NP_001381944.1:p.(Arg231Gly)	NC_000010.10:g.32761422C>G	(Likely) benign	1 lab	ff7494d090
2:233386097 PRSS56 G>A	2	233386097	233386097	G	A	PRSS56	c.164G>A	NM_001195129.2	NP_001182058.1:p.(Arg55Gln)	NC_000002.11:g.233386097G>A	VUS	1 lab	ff76ab1e55
9:139402545 NOTCH1 G>C	9	139402545	139402545	G	C	NOTCH1	c.3372C>G	NM_017617.5	NP_060087.3:p.(Asp1124Glu)	NC_000009.11:g.139402545G>C	VUS	1 lab	ff78075446
5:488469 SLC9A3 C>T	5	488469	488469	C	T	SLC9A3	c.637G>A	NM_004174.4	NP_004165.2:p.(Val213Ile)	NC_000005.9:g.488469C>T	(Likely) benign	1 lab	ff791b5fcb
2:234710859 MROH2A G>A	2	234710859	234710859	G	A	MROH2A	c.1606G>A	NM_001394639.1	NP_001381568.1:p.(Val536Met)	NC_000002.11:g.234710859G>A	(Likely) benign	1 lab	ff7b2a2281
19:42776647 CIC C>T	19	42776647	42776647	C	T	CIC	c.712C>T	NM_001386298.1	NP_001373227.1:p.(Arg238Ter)	NC_000019.9:g.42776647C>T	(Likely) pathogenic	1 lab	ff7c4f973d
14:74972853 LTBP2 C>T	14	74972853	74972853	C	T	LTBP2	c.4075G>A	NM_000428.3	NP_000419.1:p.(Ala1359Thr)	NC_000014.8:g.74972853C>T	VUS	1 lab	ff7dade5af
11:6593216 DNHD1 A>T	11	6593216	6593216	A	T	DNHD1	c.14262A>T	NM_144666.3	NP_653267.2:p.(Ter4754CysextTer6)	NC_000011.9:g.6593216A>T	VUS	1 lab	ff7e6076da
17:27042049 RAB34 C>T	17	27042049	27042049	C	T	RAB34	c.604+1G>A	NM_031934.6	NP_114140.4:p.?	NC_000017.10:g.27042049C>T	VUS	1 lab	ff803eb17f
19:51133216 SYT3 G>C	19	51133216	51133216	G	C	SYT3	c.887C>G	NM_001160329.2	NP_001153801.1:p.(Thr296Arg)	NC_000019.9:g.51133216G>C	(Likely) benign	1 lab	ff85a62444
15:40912859 KNL1 C>T	15	40912859	40912859	C	T	KNL1	c.397C>T	NM_144508.5	NP_653091.3:p.(Arg133Cys)	NC_000015.9:g.40912859C>T	(Likely) benign	1 lab	ff86548b06
17:7576931 TP53 G>A	17	7576931	7576931	G	A	TP53	c.920-5C>T	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7576931G>A	VUS	1 lab	ff873eb48a
X:54228567 WNK3 C>CT	X	54228567	54228573	C	CT	WNK3	c.4929dup	NM_020922.5	NP_065973.2:p.(Gly1644ArgfsTer6)	NC_000023.10:g.54228573dup	VUS	1 lab	ff89a4c3b7
8:43046745 HGSNAT G>A	8	43046745	43046745	G	A	HGSNAT	c.1250+7G>A	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43046745G>A	(Likely) benign	1 lab	ff8cf15f72
2:108488292 RGPD4 G>A	2	108488292	108488292	G	A	RGPD4	c.3832G>A	NM_182588.3	NP_872394.2:p.(Val1278Met)	NC_000002.11:g.108488292G>A	VUS	1 lab	ff8d6ba9c0
13:32783239 FRY C>T	13	32783239	32783239	C	T	FRY	c.4268C>T	NM_023037.3	NP_075463.2:p.(Thr1423Met)	NC_000013.10:g.32783239C>T	VUS	1 lab	ff8d736762
11:31812397 PAX6 G>C	11	31812397	31812397	G	C	PAX6	c.1086C>G	NM_001368894.2	NP_001355823.1:p.(Pro362=)	NC_000011.9:g.31812397G>C	(Likely) benign	1 lab	ff8daf82da
13:25480945 CPAP G>A	13	25480945	25480945	G	A	CPAP	c.1231C>T	NM_018451.5	NP_060921.3:p.(Pro411Ser)	NC_000013.10:g.25480945G>A	(Likely) benign	1 lab	ff9230d2bf
9:123907515 CNTRL T>A	9	123907515	123907515	T	A	CNTRL	c.3169-7T>A	NM_007018.6	NP_008949.4:p.?	NC_000009.11:g.123907515T>A	(Likely) benign	1 lab	ff9334a3a9
19:1462058 APC2 G>C	19	1462058	1462058	G	C	APC2	c.1735G>C	NM_005883.3	NP_005874.1:p.(Gly579Arg)	NC_000019.9:g.1462058G>C	VUS	1 lab	ff94b6313b
3:14170379 TMEM43 AC>A	3	14170379	14170382	AC	A	TMEM43	c.13-530del	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14170382del	(Likely) benign	1 lab	3297cc5c53
17:48278841 COL1A1 G>A	17	48278841	48278841	G	A	COL1A1	c.34C>T	NM_000088.4	NP_000079.2:p.(Leu12Phe)	NC_000017.10:g.48278841G>A	VUS	1 lab	ff963090d6
7:102944316 PMPCB A>G	7	102944316	102944316	A	G	PMPCB	c.485A>G	NM_004279.3	NP_004270.2:p.(Gln162Arg)	NC_000007.13:g.102944316A>G	VUS	1 lab	ff988485a0
1:23395129 KDM1A A>G	1	23395129	23395129	A	G	KDM1A	c.1277A>G	NM_001009999.3	NP_001009999.1:p.(Asn426Ser)	NC_000001.10:g.23395129A>G	VUS	1 lab	ff9a5ca073
16:71096193 HYDIN G>C	16	71096193	71096193	G	C	HYDIN	c.2255C>G	NM_001270974.2	NP_001257903.1:p.(Pro752Arg)	NC_000016.9:g.71096193G>C	VUS	1 lab	ff9c095b1c
16:2113068 TSC2 C>A	16	2113068	2113068	C	A	TSC2	c.1443+14C>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2113068C>A	(Likely) benign	1 lab	ff9c4d3a6e
1:202718069 KDM5B T>C	1	202718069	202718069	T	C	KDM5B	c.2016+4A>G	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202718069T>C	(Likely) benign	1 lab	ff9c8434fc
13:39435563 FREM2 TCAAGG>T	13	39435563	39435568	TCAAGG	T	FREM2	c.7520-4_7520del	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435564_39435568del	(Likely) benign	1 lab	ff9cec1009
15:93545335 CHD2 T>G	15	93545335	93545335	T	G	CHD2	c.4138-72T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545335T>G	(Likely) benign	1 lab	3299521707
2:86315679 POLR1A G>C	2	86315679	86315679	G	C	POLR1A	c.730+10C>G	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86315679G>C	VUS	1 lab	ff9d787d90
1:22165921 HSPG2 A>C	1	22165921	22165921	A	C	HSPG2	c.9832T>G	NM_005529.7	NP_005520.4:p.(Cys3278Gly)	NC_000001.10:g.22165921A>C	(Likely) pathogenic	1 lab	ff9e35600a
8:77617025 ZFHX4 CAA>C	8	77617025	77617027	CAA	C	ZFHX4	c.703_704del	NM_024721.5	NP_078997.4:p.(Lys235GlufsTer9)	NC_000008.10:g.77617026_77617027del	(Likely) pathogenic	1 lab	ffa1238498
12:80696424 OTOGL G>GT	12	80696424	80696431	G	GT	OTOGL	c.3081dup	NM_001378609.3	NP_001365538.2:p.(Leu1028SerfsTer31)	NC_000012.11:g.80696431dup	(Likely) pathogenic	1 lab	ffa14d01d7
5:138643160 MATR3 G>A	5	138643160	138643160	G	A	MATR3	c.56G>A	NM_018834.6	NP_061322.2:p.(Arg19His)	NC_000005.9:g.138643160G>A	VUS	1 lab	ffac74fca6
18:24128324 KCTD1 TTCC>T	18	24128324	24128338	TTCC	T	KCTD1	c.174_176del	NM_001142730.3	NP_001136202.1:p.(Glu63del)	NC_000018.9:g.24128336_24128338del	VUS	1 lab	ffa16e6eb2
12:88483212 CEP290 G>C	12	88483212	88483212	G	C	CEP290	c.3626C>G	NM_025114.4	NP_079390.3:p.(Ser1209Cys)	NC_000012.11:g.88483212G>C	VUS	1 lab	ffa1868781
1:52849130 ORC1 G>A	1	52849130	52849130	G	A	ORC1	c.1975C>T	NM_004153.4	NP_004144.2:p.(Pro659Ser)	NC_000001.10:g.52849130G>A	VUS	1 lab	ffa20622b7
21:34878373 GART G>A	21	34878373	34878373	G	A	GART	c.2491C>T	NM_000819.5	NP_000810.1:p.(Pro831Ser)	NC_000021.8:g.34878373G>A	VUS	1 lab	ffa3d64ddc
21:44485618 CBS C>T	21	44485618	44485618	C	T	CBS	c.545G>A	NM_000071.3	NP_000062.1:p.(Arg182Gln)	NC_000021.8:g.44485618C>T	VUS	1 lab	ffa4c7eb3c
10:127477450 UROS T>C	10	127477450	127477450	T	C	UROS	c.785A>G	NM_000375.3	NP_000366.1:p.(His262Arg)	NC_000010.10:g.127477450T>C	VUS	1 lab	ffa5b7b15f
9:22008830 CDKN2B G>A	9	22008830	22008830	G	A	CDKN2B	c.123C>T	NM_004936.4	NP_004927.2:p.(Asn41=)	NC_000009.11:g.22008830G>A	(Likely) benign	1 lab	329cebf77e
12:124218534 ATP6V0A2 A>G	12	124218534	124218534	A	G	ATP6V0A2	c.710A>G	NM_012463.4	NP_036595.2:p.(Lys237Arg)	NC_000012.11:g.124218534A>G	VUS	1 lab	ffaa655144
19:9452668 ZNF559 CAA>C	19	9452668	9452670	CAA	C	ZNF559	c.542_543del	NM_032497.3	NP_115886.1:p.(Gln181ArgfsTer5)	NC_000019.9:g.9452669_9452670del	VUS	1 lab	ffaac84414
8:134145833 TG A>G	8	134145833	134145833	A	G	TG	c.8117A>G	NM_003235.5	NP_003226.4:p.(Asn2706Ser)	NC_000008.10:g.134145833A>G	VUS	1 lab	ffabb70b6f
2:173341249 ITGA6 A>T	2	173341249	173341249	A	T	ITGA6	c.1388+8A>T	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173341249A>T	(Likely) benign	1 lab	ffabdc5ee8
11:68704136 IGHMBP2 C>T	11	68704136	68704136	C	T	IGHMBP2	c.2188C>T	NM_002180.3	NP_002171.2:p.(Arg730Trp)	NC_000011.9:g.68704136C>T	VUS	1 lab	ffabdcff68
1:225606732 LBR G>C	1	225606732	225606732	G	C	LBR	c.640+233C>G	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225606732G>C	(Likely) benign	1 lab	ffabf81ef7
3:114070105 ZBTB20 G>C	3	114070105	114070105	G	C	ZBTB20	c.820C>G	NM_001348800.3	NP_001335729.1:p.(Leu274Val)	NC_000003.11:g.114070105G>C	(Likely) pathogenic	1 lab	ffac75beda
4:79351557 FRAS1 G>A	4	79351557	79351557	G	A	FRAS1	c.4955G>A	NM_025074.7	NP_079350.5:p.(Arg1652Lys)	NC_000004.11:g.79351557G>A	VUS	1 lab	ffacb467cd
12:133196037 P2RX2 C>T	12	133196037	133196037	C	T	P2RX2	c.186C>T	NM_170682.4	NP_733782.1:p.(Ile62=)	NC_000012.11:g.133196037C>T	(Likely) benign	1 lab	fface7447f
19:36340026 NPHS1 C>T	19	36340026	36340026	C	T	NPHS1	c.864G>A	NM_004646.3	NP_004637.1:p.(Ala288=)	NC_000019.9:g.36340026C>T	(Likely) benign	1 lab	32a0a7a90b
X:44929155 KDM6A A>C	X	44929155	44929155	A	C	KDM6A	c.2411A>C	NM_001291415.2	NP_001278344.1:p.(His804Pro)	NC_000023.10:g.44929155A>C	VUS	1 lab	ffad5e87e6
1:145365375 NBPF10 G>T	1	145365375	145365375	G	T	NBPF10	c.10726G>T	NM_001302371.3	NP_001289300.1:p.(Glu3576Ter)	NC_000001.10:g.145365375G>T	(Likely) benign	1 lab	ffb0fa10a4
15:90191995 KIF7 C>T	15	90191995	90191995	C	T	KIF7	c.934G>A	NM_198525.3	NP_940927.2:p.(Asp312Asn)	NC_000015.9:g.90191995C>T	VUS	1 lab	ffb111be60
11:46920124 LRP4 C>T	11	46920124	46920124	C	T	LRP4	c.781G>A	NM_002334.4	NP_002325.2:p.(Asp261Asn)	NC_000011.9:g.46920124C>T	VUS	1 lab	ffb1fdde9b
16:1633330 IFT140 C>T	16	1633330	1633330	C	T	IFT140	c.1417G>A	NM_014714.4	NP_055529.2:p.(Ala473Thr)	NC_000016.9:g.1633330C>T	(Likely) benign	1 lab	ffb2ce26e2
X:101970316 GPRASP2 A>C	X	101970316	101970316	A	C	GPRASP2	c.519A>C	NM_001004051.4	NP_001004051.1:p.(Arg173Ser)	NC_000023.10:g.101970316A>C	(Likely) benign	1 lab	ffb33ca39a
16:53859930 FTO C>G	16	53859930	53859930	C	G	FTO	c.278C>G	NM_001080432.3	NP_001073901.1:p.(Pro93Arg)	NC_000016.9:g.53859930C>G	VUS	1 lab	ffb5a89548
1:202736190 KDM5B T>G	1	202736190	202736190	T	G	KDM5B	c.577-2A>C	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202736190T>G	VUS	1 lab	ffb656b514
7:156798236 MNX1 C>T	7	156798236	156798236	C	T	MNX1	c.1184G>A	NM_005515.4	NP_005506.3:p.(Ser395Asn)	NC_000007.13:g.156798236C>T	(Likely) benign	1 lab	ffb68aa21d
4:73951409 ANKRD17 A>AG	4	73951409	73951410	A	AG	ANKRD17	c.6962-247_6962-246insC	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.73951409_73951410insG	(Likely) benign	1 lab	ffb7947421
9:14857757 FREM1 A>G	9	14857757	14857757	A	G	FREM1	c.632-10T>C	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14857757A>G	VUS	1 lab	ffb7da7481
1:32085210 HCRTR1 G>A	1	32085210	32085210	G	A	HCRTR1	c.277G>A	NM_001525.3	NP_001516.2:p.(Val93Ile)	NC_000001.10:g.32085210G>A	(Likely) benign	1 lab	ffbabd7a87
19:1457002 APC2 G>A	19	1457002	1457002	G	A	APC2	c.967G>A	NM_005883.3	NP_005874.1:p.(Gly323Ser)	NC_000019.9:g.1457002G>A	VUS	1 lab	ffbeab5038
18:53304318 TCF4 C>T	18	53304318	53304318	C	T	TCF4				NC_000018.9:g.53304318C>T	(Likely) benign	1 lab	ffc1c57507
22:24135794 SMARCB1 C>T	22	24135794	24135794	C	T	SMARCB1	c.281C>T	NM_003073.5	NP_003064.2:p.(Ser94Leu)	NC_000022.10:g.24135794C>T	VUS	1 lab	ffc1cca7d1
19:1467770 APC2 C>T	19	1467770	1467770	C	T	APC2	c.4470C>T	NM_005883.3	NP_005874.1:p.(Asp1490=)	NC_000019.9:g.1467770C>T	(Likely) benign	1 lab	ffc2bfde7f
10:103294635 BTRC A>G	10	103294635	103294635	A	G	BTRC	c.1315A>G	NM_033637.4	NP_378663.1:p.(Ile439Val)	NC_000010.10:g.103294635A>G	VUS	1 lab	ffc3bf21a6
17:30264476 SUZ12 G>A	17	30264476	30264476	G	A	SUZ12	c.211G>A	NM_015355.4	NP_056170.2:p.(Val71Met)	NC_000017.10:g.30264476G>A	(Likely) benign	1 lab	ffc459acd4
17:62034558 SCN4A G>A	17	62034558	62034558	G	A	SCN4A	c.2340C>T	NM_000334.4	NP_000325.4:p.(Thr780=)	NC_000017.10:g.62034558G>A	(Likely) benign	1 lab	ffc4b9eb43
19:46270423 SIX5 G>A	19	46270423	46270423	G	A	SIX5	c.804-10C>T	NM_175875.5	NP_787071.3:p.?	NC_000019.9:g.46270423G>A	VUS	1 lab	ffc56e453f
18:47369733 MYO5B C>T	18	47369733	47369733	C	T	MYO5B	c.4489G>A	NM_001080467.3	NP_001073936.1:p.(Val1497Met)	NC_000018.9:g.47369733C>T	VUS	1 lab	ffca1cc440
22:50876662 PPP6R2 T>G	22	50876662	50876662	T	G	PPP6R2	c.1899T>G	NM_001242898.2	NP_001229827.1:p.(Asp633Glu)	NC_000022.10:g.50876662T>G	(Likely) benign	1 lab	ffca6fb8fb
1:245027342 HNRNPU C>T	1	245027342	245027342	C	T	HNRNPU	c.268G>A	NM_031844.3	NP_114032.2:p.(Glu90Lys)	NC_000001.10:g.245027342C>T	(Likely) benign	1 lab	ffcd0d80d6
12:49416666 KMT2D G>A	12	49416666	49416666	G	A	KMT2D	c.16053-8C>T	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49416666G>A	VUS	1 lab	ffcd816ee7
7:83592532 SEMA3A G>C	7	83592532	83592532	G	C	SEMA3A	c.1849C>G	NM_006080.3	NP_006071.1:p.(Arg617Gly)	NC_000007.13:g.83592532G>C	VUS	1 lab	ffd077599f
11:67814979 TCIRG1 G>C	11	67814979	67814979	G	C	TCIRG1	c.1245G>C	NM_006019.4	NP_006010.2:p.(Leu415=)	NC_000011.9:g.67814979G>C	(Likely) benign	1 lab	2f42117e4f
16:2807927 SRRM2 G>C	16	2807927	2807927	G	C	SRRM2	c.496G>C	NM_016333.4	NP_057417.3:p.(Glu166Gln)	NC_000016.9:g.2807927G>C	VUS	1 lab	ffd1519aed
8:93017477 RUNX1T1 C>A	8	93017477	93017477	C	A	RUNX1T1	c.607G>T	NM_175634.3	NP_783552.1:p.(Ala203Ser)	NC_000008.10:g.93017477C>A	VUS	1 lab	ffd23a364a
3:184033637 EIF4G1 T>C	3	184033637	184033637	T	C	EIF4G1	c.53T>C	NM_198241.3	NP_937884.2:p.(Leu18Pro)	NC_000003.11:g.184033637T>C	(Likely) benign	1 lab	ffd4b4e89e
6:32008198 CYP21A2 C>T	6	32008198	32008198	C	T	CYP21A2	c.955C>T	NM_000500.9	NP_000491.4:p.(Gln319Ter)	NC_000006.11:g.32008198C>T	(Likely) pathogenic	1 lab	ffd4c0cb46
1:34076778 CSMD2 T>C	1	34076778	34076778	T	C	CSMD2	c.6206A>G	NM_001281956.2	NP_001268885.1:p.(Tyr2069Cys)	NC_000001.10:g.34076778T>C	VUS	1 lab	ffd7e16a6e
22:29884966 NEFH T>C	22	29884966	29884966	T	C	NEFH	c.1337T>C	NM_021076.4	NP_066554.2:p.(Val446Ala)	NC_000022.10:g.29884966T>C	VUS	1 lab	ffd84af956
8:21959834 FHIP2B C>T	8	21959834	21959834	C	T	FHIP2B	c.1992+8C>T	NM_022749.7	NP_073586.5:p.?	NC_000008.10:g.21959834C>T	(Likely) benign	1 lab	ffd8665428
10:93784626 BTAF1 A>G	10	93784626	93784626	A	G	BTAF1	c.4977A>G	NM_003972.3	NP_003963.1:p.(Ile1659Met)	NC_000010.10:g.93784626A>G	(Likely) benign	1 lab	ffd8708446
16:90099338 DRC4 T>G	16	90099338	90099338	T	G	DRC4	c.495+6T>G	NM_001481.3	NP_001472.1:p.?	NC_000016.9:g.90099338T>G	VUS	1 lab	ffd8884362
16:30913735 CTF1 G>C	16	30913735	30913735	G	C	CTF1	c.481G>C	NM_001330.5	NP_001321.1:p.(Ala161Pro)	NC_000016.9:g.30913735G>C	(Likely) benign	1 lab	ffd93c88da
8:124978406 FER1L6 T>A	8	124978406	124978406	T	A	FER1L6	c.260T>A	NM_001039112.2	NP_001034201.2:p.(Ile87Lys)	NC_000008.10:g.124978406T>A	(Likely) benign	1 lab	ffda5e550e
17:48701714 CACNA1G T>C	17	48701714	48701714	T	C	CACNA1G	c.6230-7T>C	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48701714T>C	(Likely) benign	1 lab	ffdc4881e9
21:27254070 APP C>G	21	27254070	27254070	C	G	APP	c.2224G>C	NM_000484.4	NP_000475.1:p.(Val742Leu)	NC_000021.8:g.27254070C>G	VUS	1 lab	ffdcb999ad
7:299845 FAM20C G>A	7	299845	299845	G	A	FAM20C	c.1654G>A	NM_020223.4	NP_064608.2:p.(Val552Ile)	NC_000007.13:g.299845G>A	VUS	1 lab	ffddc3a03c
7:75608850 POR C>T	7	75608850	75608850	C	T	POR	c.319C>T	NM_000941.3	NP_000932.3:p.(Arg107Cys)	NC_000007.13:g.75608850C>T	VUS	1 lab	ffddcba991
15:89398882 ACAN C>T	15	89398882	89398882	C	T	ACAN	c.3066C>T	NM_001369268.1	NP_001356197.1:p.(Thr1022=)	NC_000015.9:g.89398882C>T	VUS	1 lab	ffe0bf25f4
20:32255678 ACTL10 A>T	20	32255678	32255678	A	T	ACTL10	c.375A>T	NM_001024675.2	NP_001019846.1:p.(Glu125Asp)	NC_000020.10:g.32255678A>T	VUS	1 lab	ffe3082fb2
17:8045136 PER1 G>A	17	8045136	8045136	G	A	PER1	c.3587C>T	NM_002616.3	NP_002607.2:p.(Ala1196Val)	NC_000017.10:g.8045136G>A	VUS	1 lab	ffe32aaa62
17:74723445 METTL23 A>G	17	74723445	74723445	A	G	METTL23	c.-22+185A>G	NM_001080510.5	NP_001073979.3:p.?	NC_000017.10:g.74723445A>G	(Likely) benign	1 lab	ffe4a1aec4
7:5567422 ACTB T>TA	7	5567422	5567423	T	TA	ACTB	c.1084dup	NM_001101.5	NP_001092.1:p.(Tyr362LeufsTer2)	NC_000007.13:g.5567423dup	(Likely) pathogenic	1 lab	ffe5042523
8:125061950 FER1L6 G>T	8	125061950	125061950	G	T	FER1L6	c.2827G>T	NM_001039112.2	NP_001034201.2:p.(Gly943Trp)	NC_000008.10:g.125061950G>T	(Likely) benign	1 lab	ffe77a453a
11:108172386 ATM G>A	11	108172386	108172386	G	A	ATM	c.5189G>A	NM_000051.4	NP_000042.3:p.(Arg1730Gln)	NC_000011.9:g.108172386G>A	VUS	1 lab	ffe891b8ba
1:235612072 TBCE TGG>T	1	235612072	235612074	TGG	T	TBCE	c.1580_1581del	NM_003193.5	NP_003184.1:p.(Trp527LeufsTer5)	NC_000001.10:g.235612073_235612074del	VUS	1 lab	ffea763916
12:8995830 A2ML1 G>A	12	8995830	8995830	G	A	A2ML1	c.1349G>A	NM_144670.6	NP_653271.3:p.(Arg450His)	NC_000012.11:g.8995830G>A	(Likely) benign	1 lab	ffeb8dacb4
9:35548394 RUSC2 C>T	9	35548394	35548394	C	T	RUSC2	c.1876C>T	NM_014806.5	NP_055621.2:p.(His626Tyr)	NC_000009.11:g.35548394C>T	(Likely) benign	1 lab	ffec001e6c
14:64735532 ESR2 T>C	14	64735532	64735532	T	C	ESR2	c.633A>G	NM_001437.3	NP_001428.1:p.(Glu211=)	NC_000014.8:g.64735532T>C	(Likely) benign	1 lab	fff14513fe
4:73943107 ANKRD17 C>T	4	73943107	73943107	C	T	ANKRD17	c.7552G>A	NM_032217.5	NP_115593.3:p.(Val2518Ile)	NC_000004.11:g.73943107C>T	(Likely) benign	1 lab	fff4307977
15:34018594 RYR3 A>G	15	34018594	34018594	A	G	RYR3	c.6920A>G	NM_001036.6	NP_001027.3:p.(Gln2307Arg)	NC_000015.9:g.34018594A>G	VUS	1 lab	fff517de33
19:18541663 SSBP4 G>A	19	18541663	18541663	G	A	SSBP4	c.292G>A	NM_032627.5	NP_116016.1:p.(Ala98Thr)	NC_000019.9:g.18541663G>A	(Likely) benign	1 lab	fff5351314
2:241679737 KIF1A A>G	2	241679737	241679737	A	G	KIF1A	c.3794T>C	NM_001244008.2	NP_001230937.1:p.(Met1265Thr)	NC_000002.11:g.241679737A>G	(Likely) benign	1 lab	fff562fe1f
2:179484372 TTN C>T	2	179484372	179484372	C	T	TTN	c.46672G>A	NM_001267550.2	NP_001254479.2:p.(Ala15558Thr)	NC_000002.11:g.179484372C>T	(Likely) benign	1 lab	fff5d4774b
10:90701011 ACTA2 C>G	10	90701011	90701011	C	G	ACTA2	c.591G>C	NM_001613.2	NP_001604.1:p.(Glu197Asp)	NC_000010.10:g.90701011C>G	VUS	1 lab	3543732d20
14:21833307 SUPT16H A>G	14	21833307	21833307	A	G	SUPT16H	c.1047-5T>C	NM_007192.4	NP_009123.1:p.?	NC_000014.8:g.21833307A>G	(Likely) benign	1 lab	fff78656a4
10:88476194 LDB3 T>C	10	88476194	88476194	T	C	LDB3	c.1342T>C	NM_007078.3	NP_009009.1:p.(Ser448Pro)	NC_000010.10:g.88476194T>C	(Likely) benign	1 lab	fff7e972ad
1:155732175 GON4L C>G	1	155732175	155732175	C	G	GON4L	c.4727-10G>C	NM_001282860.2	NP_001269789.1:p.?	NC_000001.10:g.155732175C>G	(Likely) benign	1 lab	fff81b75aa
17:17698750 RAI1 G>A	17	17698750	17698750	G	A	RAI1	c.2488G>A	NM_030665.4	NP_109590.3:p.(Glu830Lys)	NC_000017.10:g.17698750G>A	(Likely) benign	1 lab	fff965118b
5:140176059 PCDHA1 T>C	5	140176059	140176059	T	C	PCDHA1	c.2394+7790T>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140176059T>C	VUS	1 lab	fffda27319
13:28498414 PDX1 C>G	13	28498414	28498414	C	G	PDX1	c.428C>G	NM_000209.4	NP_000200.1:p.(Pro143Arg)	NC_000013.10:g.28498414C>G	VUS	1 lab	ffff4723c2
12:124416504 DNAH10 T>G	12	124416504	124416504	T	G	DNAH10	c.13145T>G	NM_001372106.1	NP_001359035.1:p.(Val4382Gly)	NC_000012.11:g.124416504T>G	VUS	1 lab	ffff4a40a4
6:46672943 PLA2G7 A>G	6	46672943	46672943	A	G	PLA2G7	c.1136T>C	NM_005084.4	NP_005075.3:p.(Val379Ala)	NC_000006.11:g.46672943A>G	(Likely) benign	1 lab	2f44088b66
7:117174349 CFTR G>A	7	117174349	117174349	G	A	CFTR	c.509G>A	NM_000492.4	NP_000483.3:p.(Arg170His)	NC_000007.13:g.117174349G>A	VUS	1 lab	2f45d798c9
3:15677184 BTD G>A	3	15677184	15677184	G	A	BTD	c.238G>A	NM_001370658.1	NP_001357587.1:p.(Ala80Thr)	NC_000003.11:g.15677184G>A	VUS	1 lab	2f470fca26
4:41748321 PHOX2B G>T	4	41748321	41748321	G	T	PHOX2B	c.448C>A	NM_003924.4	NP_003915.2:p.(Arg150Ser)	NC_000004.11:g.41748321G>T	(Likely) pathogenic	1 lab	2f4a0f7fd4
17:48646346 CACNA1G A>AGTGTGTGTGTGTGT	17	48646346	48646376	A	AGTGTGTGTGTGTGT	CACNA1G	c.354+21_354+34dup	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646363_48646376dup	(Likely) benign	1 lab	2f4baa42c5
6:7558477 DSP C>T	6	7558477	7558477	C	T	DSP	c.402C>T	NM_004415.4	NP_004406.2:p.(Pro134=)	NC_000006.11:g.7558477C>T	(Likely) benign	1 lab	2f4f4e05f1
3:49081879 QRICH1 AACCGAAC>A	3	49081879	49081887	AACCGAAC	A	QRICH1	c.1723_1729del	NM_017730.4	NP_060200.2:p.(Val575SerfsTer9)	NC_000003.11:g.49081881_49081887del	(Likely) pathogenic	1 lab	2f4ff41064
1:47882403 FOXE3 C>T	1	47882403	47882403	C	T	FOXE3	c.416C>T	NM_012186.3	NP_036318.1:p.(Pro139Leu)	NC_000001.10:g.47882403C>T	VUS	1 lab	2f512d3fab
11:47861397 NUP160 G>C	11	47861397	47861397	G	C	NUP160	c.746C>G	NM_015231.2	NP_056046.1:p.(Pro249Arg)	NC_000011.9:g.47861397G>C	VUS	1 lab	2f5760da78
2:179466204 TTN C>T	2	179466204	179466204	C	T	TTN	c.55520G>A	NM_001267550.2	NP_001254479.2:p.(Gly18507Glu)	NC_000002.11:g.179466204C>T	VUS	1 lab	2f57a691be
11:64572557 MEN1 A>G	11	64572557	64572557	A	G	MEN1	c.1314=	NM_130803.2	NP_570715.1:p.(His438=)	NC_000011.9:g.64572557A>G	(Likely) benign	1 lab	2f57fbdb05
8:55372034 SOX17 C>T	8	55372034	55372034	C	T	SOX17	c.724C>T	NM_022454.4	NP_071899.1:p.(Pro242Ser)	NC_000008.10:g.55372034C>T	VUS	1 lab	2f593904d2
3:58095421 FLNB G>C	3	58095421	58095421	G	C	FLNB	c.2318G>C	NM_001457.4	NP_001448.2:p.(Gly773Ala)	NC_000003.11:g.58095421G>C	VUS	1 lab	2f5ed72782
20:35540922 SAMHD1 G>A	20	35540922	35540922	G	A	SAMHD1	c.1096C>T	NM_015474.4	NP_056289.2:p.(Arg366Cys)	NC_000020.10:g.35540922G>A	VUS	1 lab	2f5f8ad359
10:18292139 SLC39A12 A>G	10	18292139	18292139	A	G	SLC39A12	c.1799A>G	NM_001145195.2	NP_001138667.1:p.(Lys600Arg)	NC_000010.10:g.18292139A>G	(Likely) benign	1 lab	2f60d92f62
12:49361888 WNT10B T>TGAGCCA	12	49361888	49361895	T	TGAGCCA	WNT10B	c.546_551dup	NM_003394.4	NP_003385.2:p.(Gly183_Ser184dup)	NC_000012.11:g.49361890_49361895dup	VUS	1 lab	2f6251f0c8
15:85383622 ALPK3 G>C	15	85383622	85383622	G	C	ALPK3	c.1112G>C	NM_020778.5	NP_065829.4:p.(Arg371Thr)	NC_000015.9:g.85383622G>C	VUS	1 lab	2f68076ae1
X:46719498 RP2 C>T	X	46719498	46719498	C	T	RP2	c.844C>T	NM_006915.3	NP_008846.2:p.(Arg282Trp)	NC_000023.10:g.46719498C>T	(Likely) benign	1 lab	2f72f9400f
6:33408688 SYNGAP1 C>G	6	33408688	33408688	C	G	SYNGAP1	c.1859C>G	NM_006772.3	NP_006763.2:p.(Ser620Ter)	NC_000006.11:g.33408688C>G	(Likely) pathogenic	1 lab	2f7309f318
10:112590911 RBM20 C>T	10	112590911	112590911	C	T	RBM20	c.3544C>T	NM_001134363.3	NP_001127835.2:p.(Arg1182Cys)	NC_000010.10:g.112590911C>T	VUS	1 lab	2f787cfbf7
16:86544857 FOXF1 TGCGGCGGC>T	16	86544857	86544873	TGCGGCGGC	T	FOXF1	c.691_698del	NM_001451.3	NP_001442.2:p.(Ala231ArgfsTer61)	NC_000016.9:g.86544866_86544873del	(Likely) pathogenic	1 lab	2f79a5d5f0
2:179481539 TTN TCACTTGGAGAAATGACAAGTTCGGCATAGG>T	2	179481539	179481571	TCACTTGGAGAAATGACAAGTTCGGCATAGG	T	TTN	c.48047_48076del	NM_001267550.2	NP_001254479.2:p.(Ala16016_Ser16025del)	NC_000002.11:g.179481542_179481571del	VUS	1 lab	2f7b5a38eb
22:40661105 TNRC6B G>A	22	40661105	40661105	G	A	TNRC6B	c.871G>A	NM_001162501.2	NP_001155973.1:p.(Asp291Asn)	NC_000022.10:g.40661105G>A	(Likely) benign	1 lab	2f832ea5ac
1:183109550 LAMC1 TG>T	1	183109550	183109551	TG	T	LAMC1	c.4486del	NM_002293.4	NP_002284.3:p.(Ala1496LeufsTer37)	NC_000001.10:g.183109551del	VUS	1 lab	2f83afc7b5
X:32827733 DMD AACACATACACATAC>A	X	32827733	32827758	AACACATACACATAC	A	DMD	c.531-19_531-6del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32827745_32827758del	(Likely) benign	1 lab	2f88cc1eff
12:49442964 KMT2D C>T	12	49442964	49442964	C	T	KMT2D	c.3944G>A	NM_003482.4	NP_003473.3:p.(Arg1315His)	NC_000012.11:g.49442964C>T	VUS	1 lab	2f8d882db2
7:44185656 GCK G>T	7	44185656	44185656	G	T	GCK	c.1020-327C>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44185656G>T	(Likely) benign	1 lab	2f9153ab24
2:166868764 SCN1A C>T	2	166868764	166868764	C	T	SCN1A	c.3734G>A	NM_001165963.4	NP_001159435.1:p.(Arg1245Gln)	NC_000002.11:g.166868764C>T	(Likely) pathogenic	1 lab	2f94ee0b4b
17:29664601 NF1 G>C	17	29664601	29664601	G	C	NF1	c.6579+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664601G>C	(Likely) pathogenic	1 lab	2f9b1caf19
7:117188849 CFTR C>T	7	117188849	117188849	C	T	CFTR	c.1364C>T	NM_000492.4	NP_000483.3:p.(Ala455Val)	NC_000007.13:g.117188849C>T	VUS	1 lab	2f9bea1d9c
18:34298401 FHOD3 C>T	18	34298401	34298401	C	T	FHOD3	c.2615C>T	NM_025135.5	NP_079411.2:p.(Pro872Leu)	NC_000018.9:g.34298401C>T	VUS	1 lab	2fa539ee92
13:48954352 RB1 TGA>T	13	48954352	48954355	TGA	T	RB1	c.1475_1476del	NM_000321.3	NP_000312.2:p.(Glu492GlyfsTer7)	NC_000013.10:g.48954354_48954355del	(Likely) pathogenic	1 lab	2fa9b030c0
16:27499629 GTF3C1 G>A	16	27499629	27499629	G	A	GTF3C1	c.3619C>T	NM_001520.4	NP_001511.2:p.(Arg1207Trp)	NC_000016.9:g.27499629G>A	VUS	1 lab	2faa9209f8
15:78322379 TBC1D2B T>C	15	78322379	78322379	T	C	TBC1D2B	c.817A>G	NM_144572.2	NP_653173.1:p.(Lys273Glu)	NC_000015.9:g.78322379T>C	VUS	1 lab	2fafdc93ea
17:63531750 AXIN2 G>A	17	63531750	63531750	G	A	AXIN2	c.2231C>T	NM_004655.4	NP_004646.3:p.(Pro744Leu)	NC_000017.10:g.63531750G>A	VUS	1 lab	2fb591124b
9:117840366 TNC C>T	9	117840366	117840366	C	T	TNC	c.2530G>A	NM_002160.4	NP_002151.2:p.(Gly844Arg)	NC_000009.11:g.117840366C>T	VUS	1 lab	2fb8001b70
18:24035772 KCTD1 G>A	18	24035772	24035772	G	A	KCTD1	c.709C>T	NM_001258221.2	NP_001245150.1:p.(Arg237Trp)	NC_000018.9:g.24035772G>A	VUS	1 lab	2fb9908719
2:179440815 TTN G>A	2	179440815	179440815	G	A	TTN	c.62340C>T	NM_133378.4	NP_596869.4:p.(Ala20780=)	NC_000002.11:g.179440815G>A	(Likely) benign	1 lab	2fb992a67f
20:390552 RBCK1 G>A	20	390552	390552	G	A	RBCK1	c.50G>A	NM_031229.4	NP_112506.2:p.(Arg17Gln)	NC_000020.10:g.390552G>A	VUS	1 lab	2fb9bee2c9
8:87076689 PSKH2 G>T	8	87076689	87076689	G	T	PSKH2	c.357C>A	NM_033126.3	NP_149117.1:p.(Tyr119Ter)	NC_000008.10:g.87076689G>T	VUS	1 lab	2fba1fcd07
15:89876855 POLG T>C	15	89876855	89876855	T	C	POLG	c.131A>G	NM_002693.3	NP_002684.1:p.(Gln44Arg)	NC_000015.9:g.89876855T>C	VUS	1 lab	2fbabe1265
16:1661936 IFT140 C>T	16	1661936	1661936	C	T	IFT140				NC_000016.9:g.1661936C>T	(Likely) benign	1 lab	2fbd87dba0
8:144996247 PLEC C>T	8	144996247	144996247	C	T	PLEC	c.7823G>A	NM_000445.5	NP_000436.2:p.(Arg2608Gln)	NC_000008.10:g.144996247C>T	VUS	1 lab	2fc5a5844a
10:50819949 SLC18A3 G>A	10	50819949	50819949	G	A	SLC18A3	c.1163G>A	NM_003055.3	NP_003046.2:p.(Cys388Tyr)	NC_000010.10:g.50819949G>A	VUS	1 lab	2fc6c2b598
15:89870461 POLG C>T	15	89870461	89870461	C	T	POLG	c.1370G>A	NM_002693.3	NP_002684.1:p.(Arg457Gln)	NC_000015.9:g.89870461C>T	VUS	1 lab	2fc8d3e586
11:118375576 KMT2A G>A	11	118375576	118375576	G	A	KMT2A	c.8969G>A	NM_001197104.2	NP_001184033.1:p.(Gly2990Asp)	NC_000011.9:g.118375576G>A	VUS	1 lab	2fcce6b0cc
22:24761467 SPECC1L G>A	22	24761467	24761467	G	A	SPECC1L	c.2851G>A	NM_015330.6	NP_056145.5:p.(Val951Met)	NC_000022.10:g.24761467G>A	(Likely) benign	1 lab	2fcd076102
9:134098206 NUP214 G>C	9	134098206	134098206	G	C	NUP214	c.5791G>C	NM_005085.4	NP_005076.3:p.(Gly1931Arg)	NC_000009.11:g.134098206G>C	VUS	1 lab	2fcd833f03
15:85400707 ALPK3 A>C	15	85400707	85400707	A	C	ALPK3	c.2738A>C	NM_020778.5	NP_065829.4:p.(His913Pro)	NC_000015.9:g.85400707A>C	VUS	1 lab	2fd287e6af
1:22188477 HSPG2 C>T	1	22188477	22188477	C	T	HSPG2	c.4868+4G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22188477C>T	(Likely) benign	1 lab	2fd5760354
2:85779046 GGCX A>C	2	85779046	85779046	A	C	GGCX	c.1498T>G	NM_000821.7	NP_000812.2:p.(Ser500Ala)	NC_000002.11:g.85779046A>C	VUS	1 lab	2fd58c4cd2
12:116420376 MED13L G>A	12	116420376	116420376	G	A	MED13L	c.4988C>T	NM_015335.5	NP_056150.1:p.(Thr1663Met)	NC_000012.11:g.116420376G>A	VUS	1 lab	2fdca03aa5
15:26825600 GABRB3 C>A	15	26825600	26825600	C	A	GABRB3	c.293G>T	NM_001278631.2	NP_001265560.1:p.(Gly98Val)	NC_000015.9:g.26825600C>A	(Likely) pathogenic	1 lab	2fe31188cb
8:38282080 FGFR1 C>T	8	38282080	38282080	C	T	FGFR1	c.883G>A	NM_023110.3	NP_075598.2:p.(Val295Met)	NC_000008.10:g.38282080C>T	VUS	1 lab	2ff2cc1dbc
18:19395673 MIB1 C>T	18	19395673	19395673	C	T	MIB1	c.1576C>T	NM_020774.4	NP_065825.1:p.(Arg526Ter)	NC_000018.9:g.19395673C>T	VUS	1 lab	2ff578cc19
7:142572703 TRPV6 G>A	7	142572703	142572703	G	A	TRPV6	c.1360C>T	NM_018646.6	NP_061116.5:p.(Arg454Cys)	NC_000007.13:g.142572703G>A	VUS	1 lab	2ffc1159a1
11:125474113 STT3A G>A	11	125474113	125474113	G	A	STT3A	c.479G>A	NM_001278503.2	NP_001265432.1:p.(Arg160Gln)	NC_000011.9:g.125474113G>A	(Likely) pathogenic	1 lab	2ffe3f2f7c
17:40695582 NAGLU C>T	17	40695582	40695582	C	T	NAGLU	c.1558C>T	NM_000263.4	NP_000254.2:p.(Arg520Trp)	NC_000017.10:g.40695582C>T	(Likely) pathogenic	1 lab	300488bf94
6:97339275 NDUFAF4 C>CA	6	97339275	97339285	C	CA	NDUFAF4	c.241-9dup	NM_014165.4	NP_054884.1:p.?	NC_000006.11:g.97339285dup	(Likely) benign	1 lab	3010658989
X:123020256 XIAP G>T	X	123020256	123020256	G	T	XIAP	c.744G>T	NM_001167.4	NP_001158.2:p.(Arg248Ser)	NC_000023.10:g.123020256G>T	VUS	1 lab	30136889c7
1:237935415 RYR2 A>G	1	237935415	237935415	A	G	RYR2	c.11646+15A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237935415A>G	(Likely) benign	1 lab	30167449e0
12:112888211 PTPN11 A>G	12	112888211	112888211	A	G	PTPN11	c.227A>G	NM_002834.5	NP_002825.3:p.(Glu76Gly)	NC_000012.11:g.112888211A>G	(Likely) pathogenic	1 lab	302206befa
X:53654402 HUWE1 T>C	X	53654402	53654402	T	C	HUWE1	c.1448A>G	NM_031407.7	NP_113584.3:p.(Asn483Ser)	NC_000023.10:g.53654402T>C	(Likely) benign	1 lab	3027591c46
16:89598450 SPG7 C>G	16	89598450	89598450	C	G	SPG7	c.1126C>G	NM_003119.4	NP_003110.1:p.(Pro376Ala)	NC_000016.9:g.89598450C>G	VUS	1 lab	303071c75d
16:89613073 SPG7 G>A	16	89613073	89613073	G	A	SPG7	c.1457G>A	NM_003119.4	NP_003110.1:p.(Arg486Gln)	NC_000016.9:g.89613073G>A	(Likely) benign	1 lab	3034addade
12:57598413 LRP1 G>A	12	57598413	57598413	G	A	LRP1	c.11075G>A	NM_002332.3	NP_002323.2:p.(Arg3692Gln)	NC_000012.11:g.57598413G>A	VUS	1 lab	30369f48d9
11:119148907 CBL C>T	11	119148907	119148907	C	T	CBL	c.1127C>T	NM_005188.4	NP_005179.2:p.(Ser376Phe)	NC_000011.9:g.119148907C>T	VUS	1 lab	303b4cff4e
X:47433723 SYN1 G>A	X	47433723	47433723	G	A	SYN1	c.1660C>T	NM_006950.3	NP_008881.2:p.(Pro554Ser)	NC_000023.10:g.47433723G>A	VUS	1 lab	303c924f3c
6:24532392 ALDH5A1 T>C	6	24532392	24532392	T	C	ALDH5A1	c.1428T>C	NM_170740.1	NP_733936.1:p.(Asp476=)	NC_000006.11:g.24532392T>C	(Likely) benign	1 lab	3046e68994
7:98547131 TRRAP C>T	7	98547131	98547131	C	T	TRRAP	c.4805C>T	NM_003496.4	NP_003487.1:p.(Ala1602Val)	NC_000007.13:g.98547131C>T	VUS	1 lab	304d697e10
2:219755041 WNT10A A>C	2	219755041	219755041	A	C	WNT10A	c.712A>C	NM_025216.3	NP_079492.2:p.(Ile238Leu)	NC_000002.11:g.219755041A>C	VUS	1 lab	3053219066
1:196285038 KCNT2 C>T	1	196285038	196285038	C	T	KCNT2	c.2467G>A	NM_198503.5	NP_940905.2:p.(Val823Met)	NC_000001.10:g.196285038C>T	VUS	1 lab	305961e69b
7:21857908 DNAH11 G>A	7	21857908	21857908	G	A	DNAH11	c.10642G>A	NM_001277115.2	NP_001264044.1:p.(Asp3548Asn)	NC_000007.13:g.21857908G>A	VUS	1 lab	305fdaac76
3:171431702 PLD1 G>A	3	171431702	171431702	G	A	PLD1	c.892C>T	NM_002662.5	NP_002653.1:p.(Arg298Ter)	NC_000003.11:g.171431702G>A	(Likely) pathogenic	1 lab	30614b9ef0
19:46280752 DMPK G>A	19	46280752	46280752	G	A	DMPK	c.1009C>T	NM_001081563.2	NP_001075032.1:p.(Arg337Trp)	NC_000019.9:g.46280752G>A	(Likely) benign	1 lab	30624c4b3a
X:48822561 KCND1 C>T	X	48822561	48822561	C	T	KCND1	c.1619G>A	NM_004979.6	NP_004970.3:p.(Arg540His)	NC_000023.10:g.48822561C>T	VUS	1 lab	30633bf922
20:44045246 PIGT T>A	20	44045246	44045246	T	A	PIGT	c.277T>A	NM_015937.6	NP_057021.2:p.(Phe93Ile)	NC_000020.10:g.44045246T>A	VUS	1 lab	3063b58dff
X:40465002 ATP6AP2 G>A	X	40465002	40465002	G	A	ATP6AP2	c.1048G>A	NM_005765.3	NP_005756.2:p.(Asp350Asn)	NC_000023.10:g.40465002G>A	VUS	1 lab	30694cb535
8:144811278 SACK1H G>A	8	144811278	144811278	G	A	SACK1H	c.613-17C>T	NM_198488.5	NP_940890.4:p.?	NC_000008.10:g.144811278G>A	(Likely) benign	1 lab	306d6ffff6
19:621194 POLRMT G>A	19	621194	621194	G	A	POLRMT	c.2504C>T	NM_005035.4	NP_005026.3:p.(Pro835Leu)	NC_000019.9:g.621194G>A	VUS	1 lab	3070917acf
12:49434904 KMT2D G>A	12	49434904	49434904	G	A	KMT2D	c.6649C>T	NM_003482.4	NP_003473.3:p.(Arg2217Cys)	NC_000012.11:g.49434904G>A	VUS	1 lab	3077267ad1
5:67576535 PIK3R1 C>T	5	67576535	67576535	C	T	PIK3R1	c.814C>T	NM_181523.3	NP_852664.1:p.(Leu272Phe)	NC_000005.9:g.67576535C>T	VUS	1 lab	3079729394
20:57415579 GNAS G>C	20	57415579	57415579	G	C	GNAS	c.418G>C	NM_016592.5	NP_057676.1:p.(Glu140Gln)	NC_000020.10:g.57415579G>C	VUS	1 lab	307a6ef767
7:100281219 GIGYF1 G>C	7	100281219	100281219	G	C	GIGYF1	c.2006C>G	NM_001375765.1	NP_001362694.1:p.(Ser669Cys)	NC_000007.13:g.100281219G>C	VUS	1 lab	307b1f27b9
7:104748173 KMT2E C>T	7	104748173	104748173	C	T	KMT2E	c.3269C>T	NM_182931.3	NP_891847.1:p.(Ser1090Leu)	NC_000007.13:g.104748173C>T	VUS	1 lab	307d350025
6:46978000 ADGRF1 T>C	6	46978000	46978000	T	C	ADGRF1	c.1171A>G	NM_153840.4	NP_722582.2:p.(Thr391Ala)	NC_000006.11:g.46978000T>C	VUS	1 lab	307ec616f7
17:29585418 NF1 C>T	17	29585418	29585418	C	T	NF1	c.4230C>T	NM_001042492.3	NP_001035957.1:p.(Phe1410=)	NC_000017.10:g.29585418C>T	(Likely) benign	1 lab	3084576a59
18:47506840 MYO5B G>A	18	47506840	47506840	G	A	MYO5B	c.1030C>T	NM_001080467.3	NP_001073936.1:p.(Arg344Cys)	NC_000018.9:g.47506840G>A	VUS	1 lab	30867a5a38
12:7047179 ATN1 ACGCGAGAAAGAGCGCGAG>A	12	7047179	7047205	ACGCGAGAAAGAGCGCGAG	A	ATN1	c.2475_2492del	NM_001007026.2	NP_001007027.1:p.(Arg829_Glu834del)	NC_000012.11:g.7047188_7047205del	VUS	1 lab	308cdbd5fd
17:8192858 RANGRF G>A	17	8192858	8192858	G	A	RANGRF	c.389G>A	NM_016492.5	NP_057576.2:p.(Arg130Lys)	NC_000017.10:g.8192858G>A	VUS	1 lab	308ef2acb9
13:32906684 BRCA2 G>T	13	32906684	32906684	G	T	BRCA2	c.1069G>T	NM_000059.4	NP_000050.3:p.(Glu357Ter)	NC_000013.10:g.32906684G>T	(Likely) pathogenic	1 lab	30909a5525
12:7053029 RNU7-1 C>T	12	7053029	7053029	C	T	RNU7-1	n.51C>T	NR_023317.1		NC_000012.11:g.7053029C>T	(Likely) benign	1 lab	30959a8f91
18:6993673 LAMA1 T>C	18	6993673	6993673	T	C	LAMA1	c.4975A>G	NM_005559.4	NP_005550.2:p.(Ile1659Val)	NC_000018.9:g.6993673T>C	(Likely) benign	1 lab	3096b9a584
13:32910411 BRCA2 ATTCTTCTG>A	13	32910411	32910420	ATTCTTCTG	A	BRCA2	c.1921_1928del	NM_000059.4	NP_000050.3:p.(Ser641GlufsTer8)	NC_000013.10:g.32910413_32910420del	(Likely) pathogenic	1 lab	30981cf9e8
4:126370300 FAT4 G>A	4	126370300	126370300	G	A	FAT4	c.8129G>A	NM_024582.6	NP_078858.4:p.(Gly2710Asp)	NC_000004.11:g.126370300G>A	VUS	1 lab	30a03ef8f8
5:140958111 DIAPH1 T>C	5	140958111	140958111	T	C	DIAPH1	c.1015A>G	NM_005219.5	NP_005210.3:p.(Met339Val)	NC_000005.9:g.140958111T>C	VUS	1 lab	30a2cfb1ff
14:23882071 MYH7 C>T	14	23882071	23882071	C	T	MYH7	c.5800G>A	NM_000257.4	NP_000248.2:p.(Glu1934Lys)	NC_000014.8:g.23882071C>T	VUS	1 lab	30a339d299
11:66458907 SPTBN2 G>A	11	66458907	66458907	G	A	SPTBN2	c.5413C>T	NM_006946.4	NP_008877.2:p.(Arg1805Cys)	NC_000011.9:g.66458907G>A	VUS	1 lab	30a9133f85
X:148055144 AFF2 A>G	X	148055144	148055144	A	G	AFF2	c.3404+7A>G	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.148055144A>G	(Likely) benign	1 lab	30a961d804
17:60061569 MED13 G>T	17	60061569	60061569	G	T	MED13	c.2851C>A	NM_005121.3	NP_005112.2:p.(Leu951Ile)	NC_000017.10:g.60061569G>T	VUS	1 lab	30b6df3452
18:32444040 DTNA G>A	18	32444040	32444040	G	A	DTNA	c.1662+14G>A	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32444040G>A	(Likely) benign	1 lab	30b97e9c7a
2:179442559 TTN G>A	2	179442559	179442559	G	A	TTN	c.68594C>T	NM_001267550.2	NP_001254479.2:p.(Pro22865Leu)	NC_000002.11:g.179442559G>A	VUS	1 lab	30b995da35
3:49760084 GMPPB T>C	3	49760084	49760084	T	C	GMPPB	c.506A>G	NM_013334.4	NP_037466.3:p.(Asn169Ser)	NC_000003.11:g.49760084T>C	VUS	1 lab	30be23e499
12:49438552 KMT2D G>A	12	49438552	49438552	G	A	KMT2D	c.4938C>T	NM_003482.4	NP_003473.3:p.(Asp1646=)	NC_000012.11:g.49438552G>A	(Likely) benign	1 lab	30be67a08a
12:53071209 KRT1 T>A	12	53071209	53071209	T	A	KRT1	c.1019A>T	NM_006121.4	NP_006112.3:p.(Asp340Val)	NC_000012.11:g.53071209T>A	(Likely) pathogenic	1 lab	30c8f7476a
4:77661976 SHROOM3 C>T	4	77661976	77661976	C	T	SHROOM3	c.2650C>T	NM_020859.4	NP_065910.3:p.(Arg884Trp)	NC_000004.11:g.77661976C>T	VUS	1 lab	30cac7a09b
6:79679572 PHIP T>C	6	79679572	79679572	T	C	PHIP	c.3185A>G	NM_017934.7	NP_060404.4:p.(Lys1062Arg)	NC_000006.11:g.79679572T>C	VUS	1 lab	30cbad192b
7:87175175 ABCB1 A>C	7	87175175	87175175	A	C	ABCB1	c.1887+4T>G	NM_000927.5	NP_000918.2:p.?	NC_000007.13:g.87175175A>C	(Likely) benign	1 lab	30df5f23be
6:32634387 HLA-DQB1 C>T	6	32634387	32634387	C	T	HLA-DQB1	c.-3G>A	NM_001243961.2	NP_001230890.1:p.?	NC_000006.11:g.32634387C>T	(Likely) benign	1 lab	30e1a3d19e
2:71891463 DYSF ACCT>A	2	71891463	71891470	ACCT	A	DYSF	c.4957_4959del	NM_003494.4	NP_003485.1:p.(Leu1653del)	NC_000002.11:g.71891468_71891470del	VUS	1 lab	30e30430eb
1:209788656 LAMB3 T>C	1	209788656	209788656	T	C	LAMB3	c.3479A>G	NM_000228.3	NP_000219.2:p.(His1160Arg)	NC_000001.10:g.209788656T>C	VUS	1 lab	30e4d1737f
9:100201585 TDRD7 A>G	9	100201585	100201585	A	G	TDRD7	c.622A>G	NM_014290.3	NP_055105.2:p.(Thr208Ala)	NC_000009.11:g.100201585A>G	VUS	1 lab	30e4e0f6ac
1:220276869 IARS2 T>C	1	220276869	220276869	T	C	IARS2	c.1031T>C	NM_018060.4	NP_060530.3:p.(Leu344Ser)	NC_000001.10:g.220276869T>C	VUS	1 lab	30f337a9d0
13:20568009 ZMYM2 T>C	13	20568009	20568009	T	C	ZMYM2	c.797T>C	NM_003453.6	NP_003444.1:p.(Val266Ala)	NC_000013.10:g.20568009T>C	VUS	1 lab	30fa5f9aa9
2:11332422 ROCK2 T>G	2	11332422	11332422	T	G	ROCK2	c.4015A>C	NM_004850.5	NP_004841.2:p.(Lys1339Gln)	NC_000002.11:g.11332422T>G	VUS	1 lab	30fcc8ced9
X:32841474 DMD T>C	X	32841474	32841474	T	C	DMD	c.295A>G	NM_004006.3	NP_003997.2:p.(Ile99Val)	NC_000023.10:g.32841474T>C	VUS	1 lab	310000af0d
19:7125430 INSR T>C	19	7125430	7125430	T	C	INSR	c.3122A>G	NM_000208.4	NP_000199.2:p.(Asn1041Ser)	NC_000019.9:g.7125430T>C	VUS	1 lab	3104f94002
X:47479040 SYN1 G>GA	X	47479040	47479041	G	GA	SYN1	c.87_88insT	NM_133499.2	NP_598006.1:p.(Pro30SerfsTer38)	NC_000023.10:g.47479040_47479041insA	(Likely) pathogenic	1 lab	3104f9a1a6
17:12920260 ELAC2 A>G	17	12920260	12920260	A	G	ELAC2	c.297-11T>C	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12920260A>G	(Likely) benign	1 lab	310ed7f94c
19:36211105 KMT2B AGCCGTGGAG>A	19	36211105	36211125	AGCCGTGGAG	A	KMT2B	c.868_876del	NM_014727.3	NP_055542.1:p.(Gly292_Gly294del)	NC_000019.9:g.36211117_36211125del	(Likely) benign	1 lab	310fe6f934
7:107592469 LAMB1 C>A	7	107592469	107592469	C	A	LAMB1	c.3279G>T	NM_002291.3	NP_002282.2:p.(Gly1093=)	NC_000007.13:g.107592469C>A	(Likely) benign	1 lab	31104461f5
6:42942779 PEX6 A>G	6	42942779	42942779	A	G	PEX6	c.883-3T>C	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42942779A>G	(Likely) benign	1 lab	3112d093c9
13:96242685 DZIP1 C>T	13	96242685	96242685	C	T	DZIP1	c.1691G>A	NM_198968.4	NP_945319.1:p.(Gly564Asp)	NC_000013.10:g.96242685C>T	VUS	1 lab	3116cae734
2:46583280 EPAS1 C>T	2	46583280	46583280	C	T	EPAS1	c.218-10C>T	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583280C>T	(Likely) benign	1 lab	311ce51831
10:79616605 DLG5 T>C	10	79616605	79616605	T	C	DLG5	c.419A>G	NM_004747.4	NP_004738.3:p.(Gln140Arg)	NC_000010.10:g.79616605T>C	(Likely) benign	1 lab	311de03e27
10:104135246 GBF1 G>C	10	104135246	104135246	G	C	GBF1	c.3788G>C	NM_004193.3	NP_004184.1:p.(Trp1263Ser)	NC_000010.10:g.104135246G>C	VUS	1 lab	31206ff9f4
11:62388122 B3GAT3 G>A	11	62388122	62388122	G	A	B3GAT3	c.104C>T	NM_012200.4	NP_036332.2:p.(Pro35Leu)	NC_000011.9:g.62388122G>A	VUS	1 lab	3128a7a5da
17:39912165 JUP G>A	17	39912165	39912165	G	A	JUP	c.2087-18C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39912165G>A	(Likely) benign	1 lab	312b0f9b2b
1:11103478 MASP2 C>T	1	11103478	11103478	C	T	MASP2	c.659G>A	NM_006610.4	NP_006601.2:p.(Gly220Glu)	NC_000001.10:g.11103478C>T	VUS	1 lab	312e4f6495
6:13206175 PHACTR1 A>T	6	13206175	13206175	A	T	PHACTR1	c.793A>T	NM_030948.6	NP_112210.1:p.(Lys265Ter)	NC_000006.11:g.13206175A>T	VUS	1 lab	3136de1504
1:236907974 ACTN2 C>T	1	236907974	236907974	C	T	ACTN2	c.680C>T	NM_001278344.2	NP_001265273.1:p.(Thr227Ile)	NC_000001.10:g.236907974C>T	VUS	1 lab	31393cdad9
17:56353055 MPO G>T	17	56353055	56353055	G	T	MPO	c.1213C>A	NM_000250.2	NP_000241.1:p.(Arg405Ser)	NC_000017.10:g.56353055G>T	VUS	1 lab	31396f5ffc
12:120729642 RNU4-2 T>TA	12	120729642	120729643	T	TA	RNU4-2	n.64_65insT	NR_003137.2		NC_000012.11:g.120729642_120729643insA	(Likely) pathogenic	1 lab	313f94a117
22:17662794 ADA2 T>C	22	17662794	17662794	T	C	ADA2	c.1358A>G	NM_001282225.2	NP_001269154.1:p.(Tyr453Cys)	NC_000022.10:g.17662794T>C	(Likely) pathogenic	1 lab	3140e335ff
1:183189987 LAMC2 TG>T	1	183189987	183189993	TG	T	LAMC2	c.537del	NM_005562.3	NP_005553.2:p.(Asn180ThrfsTer67)	NC_000001.10:g.183189993del	(Likely) pathogenic	1 lab	3147e7730c
8:144998248 PLEC C>T	8	144998248	144998248	C	T	PLEC	c.6260G>A	NM_201380.4	NP_958782.1:p.(Arg2087His)	NC_000008.10:g.144998248C>T	(Likely) benign	1 lab	3151f05bd7
1:3102727 PRDM16 C>T	1	3102727	3102727	C	T	PRDM16	c.76C>T	NM_022114.4	NP_071397.3:p.(Arg26Trp)	NC_000001.10:g.3102727C>T	(Likely) benign	1 lab	31524be6c8
12:52842736 KRT6B T>C	12	52842736	52842736	T	C	KRT6B	c.1093A>G	NM_005555.4	NP_005546.2:p.(Ile365Val)	NC_000012.11:g.52842736T>C	(Likely) benign	1 lab	31524f5caf
1:12416075 VPS13D C>T	1	12416075	12416075	C	T	VPS13D	c.9799C>T	NM_015378.4	NP_056193.2:p.(Arg3267Trp)	NC_000001.10:g.12416075C>T	VUS	1 lab	31543b1c2c
8:144906519 PUF60 T>TGCC	8	144906519	144906535	T	TGCC	PUF60	c.72_74dup	NM_078480.3	NP_510965.1:p.(Ala25dup)	NC_000008.10:g.144906533_144906535dup	(Likely) benign	1 lab	3157a462ad
1:160160756 CASQ1 A>G	1	160160756	160160756	A	G	CASQ1	c.215A>G	NM_001231.5	NP_001222.3:p.(His72Arg)	NC_000001.10:g.160160756A>G	(Likely) benign	1 lab	3160687c9e
1:22835677 ZBTB40 A>G	1	22835677	22835677	A	G	ZBTB40	c.1784A>G	NM_001083621.2	NP_001077090.1:p.(Tyr595Cys)	NC_000001.10:g.22835677A>G	(Likely) benign	1 lab	316903757e
10:17142165 CUBN T>C	10	17142165	17142165	T	C	CUBN	c.1604A>G	NM_001081.4	NP_001072.2:p.(Tyr535Cys)	NC_000010.10:g.17142165T>C	VUS	1 lab	316af87007
19:54313049 NLRP12 CCTGGATCTCGTACA>C	19	54313049	54313063	CCTGGATCTCGTACA	C	NLRP12	c.1850_1863del	NM_144687.4	NP_653288.1:p.(Leu617Ter)	NC_000019.9:g.54313050_54313063del	VUS	1 lab	316b6e972d
16:75590113 TMEM231 C>G	16	75590113	75590113	C	G	TMEM231	c.57G>C	NM_001077416.2	NP_001070884.2:p.(Arg19=)	NC_000016.9:g.75590113C>G	(Likely) benign	1 lab	316cda0fa2
19:7163230 INSR T>C	19	7163230	7163230	T	C	INSR	c.1862-20A>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7163230T>C	(Likely) benign	1 lab	316ee1bfda
6:51890823 PKHD1 G>A	6	51890823	51890823	G	A	PKHD1	c.3785C>T	NM_138694.4	NP_619639.3:p.(Ala1262Val)	NC_000006.11:g.51890823G>A	(Likely) benign	1 lab	318831e2e8
1:10165581 UBE4B C>T	1	10165581	10165581	C	T	UBE4B	c.588C>T	NM_006048.5	NP_006039.2:p.(Ser196=)	NC_000001.10:g.10165581C>T	(Likely) benign	1 lab	3179183056
22:46930561 CELSR1 C>T	22	46930561	46930561	C	T	CELSR1	c.2507G>A	NM_014246.4	NP_055061.1:p.(Arg836His)	NC_000022.10:g.46930561C>T	VUS	1 lab	317d1cf3fc
10:131676113 EBF3 T>A	10	131676113	131676113	T	A	EBF3	c.555A>T	NM_001005463.3	NP_001005463.1:p.(Arg185Ser)	NC_000010.10:g.131676113T>A	VUS	1 lab	317ec4537a
11:803575 PIDD1 C>T	11	803575	803575	C	T	PIDD1	c.308G>A	NM_145886.4	NP_665893.2:p.(Arg103Gln)	NC_000011.9:g.803575C>T	VUS	1 lab	317f85a97e
6:152740681 SYNE1 T>TA	6	152740681	152740694	T	TA	SYNE1	c.5421+22dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152740694dup	(Likely) benign	1 lab	3185ff323b
8:74888544 TMEM70 T>TGG	8	74888544	74888547	T	TGG	TMEM70	c.30_31dup	NM_017866.6	NP_060336.3:p.(Ala11GlyfsTer40)	NC_000008.10:g.74888546_74888547dup	(Likely) pathogenic	1 lab	3187092a2b
1:237802485 RYR2 G>A	1	237802485	237802485	G	A	RYR2	c.7099G>A	NM_001035.3	NP_001026.2:p.(Gly2367Arg)	NC_000001.10:g.237802485G>A	(Likely) benign	1 lab	318b888295
10:43606653 RET A>G	10	43606653	43606653	A	G	RET	c.1264-2A>G	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43606653A>G	(Likely) pathogenic	1 lab	318d205de0
3:9974539 IL17RC G>C	3	9974539	9974539	G	C	IL17RC	c.1732G>C	NM_153461.4	NP_703191.2:p.(Gly578Arg)	NC_000003.11:g.9974539G>C	VUS	1 lab	318fec8c69
5:1879944 IRX4 T>C	5	1879944	1879944	T	C	IRX4	c.410A>G	NM_016358.3	NP_057442.1:p.(Tyr137Cys)	NC_000005.9:g.1879944T>C	VUS	1 lab	3194227f8b
3:38592012 SCN5A C>T	3	38592012	38592012	C	T	SCN5A	c.5851G>A	NM_001099404.2	NP_001092874.1:p.(Val1951Met)	NC_000003.11:g.38592012C>T	VUS	1 lab	319aa933f1
2:179456080 TTN G>A	2	179456080	179456080	G	A	TTN	c.60372C>T	NM_001267550.2	NP_001254479.2:p.(His20124=)	NC_000002.11:g.179456080G>A	(Likely) benign	1 lab	319ac90acd
16:51173949 SALL1 G>T	16	51173949	51173949	G	T	SALL1	c.2184C>A	NM_002968.3	NP_002959.2:p.(His728Gln)	NC_000016.9:g.51173949G>T	VUS	1 lab	319decb0b5
13:29286824 SLC46A3 C>T	13	29286824	29286824	C	T	SLC46A3	c.1053G>A	NM_181785.4	NP_861450.1:p.(Met351Ile)	NC_000013.10:g.29286824C>T	VUS	1 lab	31a3c9c831
16:48395696 SIAH1 C>A	16	48395696	48395696	C	A	SIAH1	c.737G>T	NM_001006610.2	NP_001006611.1:p.(Arg246Leu)	NC_000016.9:g.48395696C>A	VUS	1 lab	31aa0a292a
1:110148974 GNAT2 C>T	1	110148974	110148974	C	T	GNAT2	c.546G>A	NM_005272.5	NP_005263.1:p.(Thr182=)	NC_000001.10:g.110148974C>T	(Likely) benign	1 lab	31aa7fe541
10:65024469 JMJD1C A>T	10	65024469	65024469	A	T	JMJD1C	c.389T>A	NM_032776.3	NP_116165.1:p.(Phe130Tyr)	NC_000010.10:g.65024469A>T	VUS	1 lab	31abc5fec3
2:179600439 TTN C>G	2	179600439	179600439	C	G	TTN	c.14734G>C	NM_001267550.2	NP_001254479.2:p.(Asp4912His)	NC_000002.11:g.179600439C>G	VUS	1 lab	31b3c52ceb
5:150696447 SLC36A2 C>T	5	150696447	150696447	C	T	SLC36A2	c.1383G>A	NM_181776.3	NP_861441.2:p.(Gln461=)	NC_000005.9:g.150696447C>T	(Likely) benign	1 lab	31bd86463b
16:88808809 PIEZO1 C>T	16	88808809	88808809	C	T	PIEZO1	c.182G>A	NM_001142864.4	NP_001136336.2:p.(Arg61Gln)	NC_000016.9:g.88808809C>T	VUS	1 lab	31bebdaa72
3:38646343 SCN5A AG>A	3	38646343	38646347	AG	A	SCN5A	c.1394del	NM_001099404.2	NP_001092874.1:p.(Pro465LeufsTer5)	NC_000003.11:g.38646347del	(Likely) pathogenic	1 lab	31c6f6f000
18:29111099 DSG2 T>TA	18	29111099	29111103	T	TA	DSG2	c.1168dup	NM_001943.5	NP_001934.2:p.(Ser390LysfsTer9)	NC_000018.9:g.29111103dup	VUS	1 lab	31c9add3cd
17:37829798 PGAP3 A>C	17	37829798	37829798	A	C	PGAP3	c.663T>G	NM_033419.5	NP_219487.3:p.(Tyr221Ter)	NC_000017.10:g.37829798A>C	(Likely) pathogenic	1 lab	31ccb63932
2:25965013 ASXL2 G>A	2	25965013	25965013	G	A	ASXL2	c.4193C>T	NM_018263.6	NP_060733.4:p.(Ser1398Leu)	NC_000002.11:g.25965013G>A	(Likely) benign	1 lab	31cf3301d5
15:73660041 HCN4 C>G	15	73660041	73660041	C	G	HCN4	c.571G>C	NM_005477.3	NP_005468.1:p.(Glu191Gln)	NC_000015.9:g.73660041C>G	VUS	1 lab	31cfd2bf25
12:53074021 KRT1 G>A	12	53074021	53074021	G	A	KRT1	c.112C>T	NM_006121.4	NP_006112.3:p.(Arg38Cys)	NC_000012.11:g.53074021G>A	VUS	1 lab	322bdff9ff
18:32392011 DTNA G>T	18	32392011	32392011	G	T	DTNA	c.537G>T	NM_001198939.2	NP_001185868.1:p.(Thr179=)	NC_000018.9:g.32392011G>T	(Likely) benign	1 lab	31d34a6e91
9:138669143 KCNT1 ACAGCCCTGACTC>A	9	138669143	138669171	ACAGCCCTGACTC	A	KCNT1	c.2350-24_2350-13del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138669160_138669171del	(Likely) benign	1 lab	31d3787869
11:66461607 SPTBN2 C>T	11	66461607	66461607	C	T	SPTBN2	c.4503+3G>A	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66461607C>T	(Likely) benign	1 lab	31d9b1f953
6:132271980 CCN2 T>G	6	132271980	132271980	T	G	CCN2	c.219A>C	NM_001901.4	NP_001892.2:p.(Pro73=)	NC_000006.11:g.132271980T>G	(Likely) benign	1 lab	31da3f50d1
3:190039794 CLDN1 CAA>C	3	190039794	190039797	CAA	C	CLDN1	c.200_201del	NM_021101.5	NP_066924.1:p.(Phe67Ter)	NC_000003.11:g.190039796_190039797del	(Likely) pathogenic	1 lab	31dae389fa
6:117996848 NUS1 C>G	6	117996848	117996848	C	G	NUS1	c.15C>G	NM_138459.5	NP_612468.1:p.(Tyr5Ter)	NC_000006.11:g.117996848C>G	(Likely) pathogenic	1 lab	31df8a0edd
19:13002356 GCDH C>T	19	13002356	13002356	C	T	GCDH	c.127+20C>T	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13002356C>T	(Likely) benign	1 lab	31df8b5b48
17:424905 VPS53 T>G	17	424905	424905	T	G	VPS53	c.2159A>C	NM_001128159.3	NP_001121631.1:p.(Lys720Thr)	NC_000017.10:g.424905T>G	VUS	1 lab	31df9d2c8b
3:9739391 MTMR14 C>T	3	9739391	9739391	C	T	MTMR14	c.1434-4083C>T	NM_022485.5	NP_071930.2:p.?	NC_000003.11:g.9739391C>T	(Likely) benign	1 lab	31e3634bfc
4:186283133 SNX25 A>G	4	186283133	186283133	A	G	SNX25	c.2215A>G	NM_001317781.2	NP_001304710.1:p.(Ile739Val)	NC_000004.11:g.186283133A>G	VUS	1 lab	31e57d3e78
15:48936834 FBN1 T>C	15	48936834	48936834	T	C	FBN1	c.133A>G	NM_000138.5	NP_000129.3:p.(Arg45Gly)	NC_000015.9:g.48936834T>C	VUS	1 lab	31e5edeb2b
17:7793983 CHD3 G>A	17	7793983	7793983	G	A	CHD3	c.485G>A	NM_001005271.3	NP_001005271.2:p.(Arg162Gln)	NC_000017.10:g.7793983G>A	VUS	1 lab	31eaefed88
2:39249914 SOS1 C>G	2	39249914	39249914	C	G	SOS1	c.1655G>C	NM_005633.4	NP_005624.2:p.(Arg552Thr)	NC_000002.11:g.39249914C>G	(Likely) pathogenic	1 lab	31eb6ffddc
15:89867118 POLG A>C	15	89867118	89867118	A	C	POLG	c.2085T>G	NM_002693.3	NP_002684.1:p.(Asp695Glu)	NC_000015.9:g.89867118A>C	VUS	1 lab	31ed705f9e
17:41256899 BRCA1 T>C	17	41256899	41256899	T	C	BRCA1	c.287A>G	NM_007294.4	NP_009225.1:p.(Asp96Gly)	NC_000017.10:g.41256899T>C	VUS	1 lab	31ee148fd7
14:67631939 GPHN A>C	14	67631939	67631939	A	C	GPHN	c.1971A>C	NM_020806.5	NP_065857.1:p.(Leu657=)	NC_000014.8:g.67631939A>C	(Likely) benign	1 lab	31f137ef78
18:10761037 PIEZO2 G>A	18	10761037	10761037	G	A	PIEZO2	c.3247C>T	NM_022068.4	NP_071351.2:p.(Arg1083Ter)	NC_000018.9:g.10761037G>A	(Likely) pathogenic	1 lab	31fad84ec4
17:56357818 MPO C>A	17	56357818	56357818	C	A	MPO	c.157G>T	NM_000250.2	NP_000241.1:p.(Val53Phe)	NC_000017.10:g.56357818C>A	(Likely) benign	1 lab	31fb47ec47
22:21348906 LZTR1 TTGTGCCGCCTGGAGCAGC>T	22	21348906	21348933	TTGTGCCGCCTGGAGCAGC	T	LZTR1	c.1685_1702del	NM_006767.4	NP_006758.2:p.(Leu562_Arg567del)	NC_000022.10:g.21348916_21348933del	VUS	1 lab	31fd97f5ac
11:118960967 HMBS A>G	11	118960967	118960967	A	G	HMBS	c.490A>G	NM_000190.4	NP_000181.2:p.(Arg164Gly)	NC_000011.9:g.118960967A>G	(Likely) benign	1 lab	3202f393ce
4:114095568 ANK2 G>A	4	114095568	114095568	G	A	ANK2	c.85-4G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114095568G>A	(Likely) benign	1 lab	3205ab8e8b
1:160106777 ATP1A2 C>G	1	160106777	160106777	C	G	ATP1A2	c.2796C>G	NM_000702.4	NP_000693.1:p.(Ile932Met)	NC_000001.10:g.160106777C>G	VUS	1 lab	320729cd92
1:183195832 LAMC2 G>A	1	183195832	183195832	G	A	LAMC2	c.1067-1G>A	NM_005562.3	NP_005553.2:p.?	NC_000001.10:g.183195832G>A	(Likely) pathogenic	1 lab	321010cbca
2:158594104 ACVR1 C>T	2	158594104	158594104	C	T	ACVR1	c.1469G>A	NM_001105.5	NP_001096.1:p.(Arg490His)	NC_000002.11:g.158594104C>T	VUS	1 lab	3213b7420f
12:120729718 SIRT4 G>A	12	120729718	120729718	G	A	SIRT4	c.-1029G>A	NM_001385733.1	NP_001372662.1:p.?	NC_000012.11:g.120729718G>A	(Likely) benign	1 lab	32154971b6
17:41203135 BRCA1 C>T	17	41203135	41203135	C	T	BRCA1	c.5278-1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41203135C>T	(Likely) pathogenic	1 lab	321ee6d8b9
1:160209635 DCAF8 T>C	1	160209635	160209635	T	C	DCAF8	c.575A>G	NM_015726.4	NP_056541.2:p.(His192Arg)	NC_000001.10:g.160209635T>C	VUS	1 lab	32232e3102
11:87013438 TMEM135 G>A	11	87013438	87013438	G	A	TMEM135	c.652G>A	NM_022918.4	NP_075069.3:p.(Gly218Arg)	NC_000011.9:g.87013438G>A	(Likely) benign	1 lab	3227229673
11:113934075 ZBTB16 C>T	11	113934075	113934075	C	T	ZBTB16	c.53C>T	NM_006006.6	NP_005997.2:p.(Thr18Met)	NC_000011.9:g.113934075C>T	VUS	1 lab	32329a7ec7
3:191100561 CCDC50 C>A	3	191100561	191100561	C	A	CCDC50	c.1269C>A	NM_178335.3	NP_848018.1:p.(Ser423=)	NC_000003.11:g.191100561C>A	(Likely) benign	1 lab	3238e6c05c
1:160269048 COPA G>T	1	160269048	160269048	G	T	COPA	c.1674C>A	NM_004371.4	NP_004362.2:p.(His558Gln)	NC_000001.10:g.160269048G>T	VUS	1 lab	323b78da33
X:123200060 STAG2 G>A	X	123200060	123200060	G	A	STAG2	c.2132G>A	NM_001042749.2	NP_001036214.1:p.(Cys711Tyr)	NC_000023.10:g.123200060G>A	VUS	1 lab	323cb22a32
11:61067657 DDB1 G>A	11	61067657	61067657	G	A	DDB1	c.3374C>T	NM_001923.5	NP_001914.3:p.(Thr1125Ile)	NC_000011.9:g.61067657G>A	VUS	1 lab	32451d4e3f
18:55283125 NARS1 GA>G	18	55283125	55283128	GA	G	NARS1	c.175del	NM_004539.4	NP_004530.1:p.(Ser59LeufsTer5)	NC_000018.9:g.55283128del	(Likely) pathogenic	1 lab	d9cecbb36b
6:70972910 COL9A1 CATATCCTAGTTAAATATTTTTTAAAAAATACTTTACTGGAGGTCCTTGAGCTCCAACTTCTCCGAGTTCT>C	6	70972910	70972980	CATATCCTAGTTAAATATTTTTTAAAAAATACTTTACTGGAGGTCCTTGAGCTCCAACTTCTCCGAGTTCT	C	COL9A1	c.1362_1395+36del	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70972911_70972980del	(Likely) pathogenic	1 lab	324af95669
1:39789890 MACF1 A>T	1	39789890	39789890	A	T	MACF1	c.4277A>T	NM_012090.5	NP_036222.3:p.(Glu1426Val)	NC_000001.10:g.39789890A>T	(Likely) benign	1 lab	324b0e06f0
X:122756711 THOC2 T>A	X	122756711	122756711	T	A	THOC2	c.3683A>T	NM_001081550.2	NP_001075019.1:p.(Asp1228Val)	NC_000023.10:g.122756711T>A	VUS	1 lab	324baa0489
2:179439825 TTN CTG>C	2	179439825	179439830	CTG	C	TTN	c.71032_71033del	NM_001267550.2	NP_001254479.2:p.(Gln23678GlufsTer3)	NC_000002.11:g.179439829_179439830del	(Likely) pathogenic	1 lab	325279c22a
20:44054308 PIGT A>C	20	44054308	44054308	A	C	PIGT	c.1579A>C	NM_015937.6	NP_057021.2:p.(Asn527His)	NC_000020.10:g.44054308A>C	VUS	1 lab	3252aa7593
X:69354635 IGBP1 A>C	X	69354635	69354635	A	C	IGBP1	c.451A>C	NM_001551.3	NP_001542.1:p.(Met151Leu)	NC_000023.10:g.69354635A>C	VUS	1 lab	32557740ba
6:32549501 HLA-DRB1 A>C	6	32549501	32549501	A	C	HLA-DRB1	c.485T>G	NM_002124.4	NP_002115.2:p.(Leu162Arg)	NC_000006.11:g.32549501A>C	(Likely) benign	1 lab	3258b5dde6
6:7559440 DSP A>T	6	7559440	7559440	A	T	DSP	c.423-19A>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559440A>T	(Likely) benign	1 lab	325b815d8a
14:74766869 ABCD4 C>G	14	74766869	74766869	C	G	ABCD4	c.141G>C	NM_005050.4	NP_005041.1:p.(Leu47Phe)	NC_000014.8:g.74766869C>G	VUS	1 lab	3264e02fc5
19:47197251 PRKD2 G>A	19	47197251	47197251	G	A	PRKD2	c.1457C>T	NM_016457.5	NP_057541.2:p.(Pro486Leu)	NC_000019.9:g.47197251G>A	VUS	1 lab	3266b33e5f
X:20211651 RPS6KA3 G>A	X	20211651	20211651	G	A	RPS6KA3	c.547C>T	NM_004586.3	NP_004577.1:p.(His183Tyr)	NC_000023.10:g.20211651G>A	VUS	1 lab	326e04fe4c
12:51069182 DIP2B G>GCCT	12	51069182	51069187	G	GCCT	DIP2B	c.870_872dup	NM_173602.3	NP_775873.2:p.(Pro291dup)	NC_000012.11:g.51069185_51069187dup	VUS	1 lab	3273d97ee4
X:153788746 IKBKG A>C	X	153788746	153788746	A	C	IKBKG	c.643A>C	NM_001099857.5	NP_001093327.1:p.(Met215Leu)	NC_000023.10:g.153788746A>C	VUS	1 lab	32747d6a8b
9:140002261 MAN1B1 A>G	9	140002261	140002261	A	G	MAN1B1	c.1896+147A>G	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.140002261A>G	(Likely) benign	1 lab	3277e43e2d
X:77224504 ATP7A G>A	X	77224504	77224504	G	A	ATP7A	c.-21-2614G>A	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77224504G>A	(Likely) benign	1 lab	3278017a47
16:2121785 TSC2 G>A	16	2121785	2121785	G	A	TSC2	c.1947G>A	NM_000548.5	NP_000539.2:p.(Met649Ile)	NC_000016.9:g.2121785G>A	VUS	1 lab	327fe20d61
12:7052978 ATN1 G>A	12	7052978	7052978	G	A	ATN1				NC_000012.11:g.7052978G>A	(Likely) benign	1 lab	3280466ff9
3:14180722 TMEM43 T>G	3	14180722	14180722	T	G	TMEM43	c.925T>G	NM_024334.3	NP_077310.1:p.(Trp309Gly)	NC_000003.11:g.14180722T>G	VUS	1 lab	3283deb4c3
9:6604660 GLDC G>A	9	6604660	6604660	G	A	GLDC	c.986C>T	NM_000170.3	NP_000161.2:p.(Pro329Leu)	NC_000009.11:g.6604660G>A	(Likely) pathogenic	1 lab	3286b1c2cf
1:66055420 LEPR G>A	1	66055420	66055420	G	A	LEPR	c.495-2920G>A	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66055420G>A	VUS	1 lab	328a7dac56
11:62300322 AHNAK G>A	11	62300322	62300322	G	A	AHNAK	c.1567C>T	NM_001620.3	NP_001611.1:p.(Pro523Ser)	NC_000011.9:g.62300322G>A	VUS	1 lab	328f1cc9bd
7:151791435 GALNT11 C>T	7	151791435	151791435	C	T	GALNT11	c.123C>T	NM_022087.4	NP_071370.2:p.(Pro41=)	NC_000007.13:g.151791435C>T	(Likely) benign	1 lab	328fcf25cd
6:43581425 POLH T>G	6	43581425	43581425	T	G	POLH	c.1273T>G	NM_006502.3	NP_006493.1:p.(Cys425Gly)	NC_000006.11:g.43581425T>G	VUS	1 lab	3296a63520
3:37042446 MLH1 AAAG>A	3	37042446	37042453	AAAG	A	MLH1	c.213_215del	NM_000249.4	NP_000240.1:p.(Glu71del)	NC_000003.11:g.37042451_37042453del	(Likely) pathogenic	1 lab	3296f1e5dc
19:18980054 GDF1 TGCCGCC>T	19	18980054	18980071	TGCCGCC	T	GDF1	c.465_470del	NM_001492.6	NP_001483.3:p.(Ala157_Ala158del)	NC_000019.9:g.18980066_18980071del	VUS	1 lab	329ae24e8d
2:179531955 TTN A>T	2	179531955	179531955	A	T	TTN	c.35797+8T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179531955A>T	(Likely) benign	1 lab	329d5d3f53
17:36104857 HNF1B AC>A	17	36104857	36104858	AC	A	HNF1B	c.18del	NM_000458.4	NP_000449.1:p.(Ser7ArgfsTer7)	NC_000017.10:g.36104858del	(Likely) pathogenic	1 lab	32a085dfe0
11:2185588 TH C>T	11	2185588	2185588	C	T	TH	c.1462G>A	NM_199292.3	NP_954986.2:p.(Val488Met)	NC_000011.9:g.2185588C>T	VUS	1 lab	32ab865755
11:118355030 KMT2A G>T	11	118355030	118355030	G	T	KMT2A	c.4218+1G>T	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118355030G>T	(Likely) pathogenic	1 lab	32acaa790a
1:11087524 MASP2 G>A	1	11087524	11087524	G	A	MASP2	c.1479C>T	NM_006610.4	NP_006601.2:p.(Ser493=)	NC_000001.10:g.11087524G>A	(Likely) benign	1 lab	32b0e41574
18:28991180 DSG4 T>C	18	28991180	28991180	T	C	DSG4	c.2181T>C	NM_001134453.3	NP_001127925.1:p.(His727=)	NC_000018.9:g.28991180T>C	(Likely) benign	1 lab	32b1c331a5
9:124062215 GSN C>T	9	124062215	124062215	C	T	GSN	c.76C>T	NM_000177.5	NP_000168.1:p.(Arg26Cys)	NC_000009.11:g.124062215C>T	VUS	1 lab	32b5c51f2a
X:44921970 KDM6A T>C	X	44921970	44921970	T	C	KDM6A	c.1504T>C	NM_021140.4	NP_066963.2:p.(Phe502Leu)	NC_000023.10:g.44921970T>C	VUS	1 lab	32b630778d
2:27461977 CAD G>A	2	27461977	27461977	G	A	CAD	c.5130G>A	NM_004341.5	NP_004332.2:p.(Met1710Ile)	NC_000002.11:g.27461977G>A	VUS	1 lab	32bf3a8e98
17:78269540 RNF213 C>T	17	78269540	78269540	C	T	RNF213	c.1939C>T	NM_001256071.3	NP_001243000.2:p.(Leu647Phe)	NC_000017.10:g.78269540C>T	VUS	1 lab	32c0b64289
19:630156 POLRMT C>T	19	630156	630156	C	T	POLRMT	c.206G>A	NM_005035.4	NP_005026.3:p.(Arg69Gln)	NC_000019.9:g.630156C>T	VUS	1 lab	32c6063f7d
6:7580405 DSP G>A	6	7580405	7580405	G	A	DSP	c.3982G>A	NM_004415.4	NP_004406.2:p.(Glu1328Lys)	NC_000006.11:g.7580405G>A	VUS	1 lab	32c8dbb987
15:85401549 ALPK3 CG>C	15	85401549	85401554	CG	C	ALPK3	c.3585del	NM_020778.5	NP_065829.4:p.(Arg1197GlyfsTer75)	NC_000015.9:g.85401554del	(Likely) pathogenic	1 lab	32cd1bd396
X:22115110 PHEX T>C	X	22115110	22115110	T	C	PHEX	c.887T>C	NM_000444.6	NP_000435.3:p.(Met296Thr)	NC_000023.10:g.22115110T>C	VUS	1 lab	32d41019a0
7:114284841 FOXP2 T>G	7	114284841	114284841	T	G	FOXP2	c.1091T>G	NM_014491.4	NP_055306.1:p.(Leu364Ter)	NC_000007.13:g.114284841T>G	(Likely) pathogenic	1 lab	32dbe98f98
3:48619791 COL7A1 C>A	3	48619791	48619791	C	A	COL7A1	c.4600G>T	NM_000094.4	NP_000085.1:p.(Gly1534Trp)	NC_000003.11:g.48619791C>A	(Likely) pathogenic	1 lab	32ded4b4bb
16:66860491 NAE1 G>C	16	66860491	66860491	G	C	NAE1	c.140-5C>G	NM_001018159.2	NP_001018169.1:p.?	NC_000016.9:g.66860491G>C	(Likely) benign	1 lab	32e1506519
12:49436571 KMT2D G>A	12	49436571	49436571	G	A	KMT2D	c.5735C>T	NM_003482.4	NP_003473.3:p.(Pro1912Leu)	NC_000012.11:g.49436571G>A	VUS	1 lab	32e230fc74
8:41834756 KAT6A G>C	8	41834756	41834756	G	C	KAT6A	c.1133C>G	NM_006766.5	NP_006757.2:p.(Ser378Ter)	NC_000008.10:g.41834756G>C	(Likely) pathogenic	1 lab	32e7c718e1
13:48954372 RB1 ATAGC>A	13	48954372	48954376	ATAGC	A	RB1	c.1494_1497del	NM_000321.3	NP_000312.2:p.(Tyr498Ter)	NC_000013.10:g.48954373_48954376del	(Likely) pathogenic	1 lab	32e999f8c6
X:54335519 WNK3 T>C	X	54335519	54335519	T	C	WNK3	c.931+9A>G	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54335519T>C	(Likely) benign	1 lab	32edba2d8d
X:153695924 PLXNA3 C>T	X	153695924	153695924	C	T	PLXNA3	c.3478C>T	NM_017514.5	NP_059984.3:p.(Arg1160Cys)	NC_000023.10:g.153695924C>T	VUS	1 lab	32ee98e463
8:100832191 VPS13B G>C	8	100832191	100832191	G	C	VPS13B	c.8910G>C	NM_017890.5	NP_060360.3:p.(Lys2970Asn)	NC_000008.10:g.100832191G>C	VUS	1 lab	32f1e04cb0
22:29095861 CHEK2 T>C	22	29095861	29095861	T	C	CHEK2	c.973A>G	NM_007194.4	NP_009125.1:p.(Lys325Glu)	NC_000022.10:g.29095861T>C	VUS	1 lab	32f252ed10
15:85399767 ALPK3 G>A	15	85399767	85399767	G	A	ALPK3	c.1798G>A	NM_020778.5	NP_065829.4:p.(Ala600Thr)	NC_000015.9:g.85399767G>A	VUS	1 lab	32fd209bb1
8:145002165 PLEC C>T	8	145002165	145002165	C	T	PLEC	c.3342-5G>A	NM_000445.5	NP_000436.2:p.?	NC_000008.10:g.145002165C>T	(Likely) benign	1 lab	32fdc3d2b4
4:5642366 EVC2 G>A	4	5642366	5642366	G	A	EVC2	c.1345C>T	NM_147127.5	NP_667338.3:p.(Arg449Trp)	NC_000004.11:g.5642366G>A	VUS	1 lab	3302582138
3:181430665 SOX2 AT>A	3	181430665	181430666	AT	A	SOX2	c.518del	NM_003106.4	NP_003097.1:p.(Met173ArgfsTer30)	NC_000003.11:g.181430666del	(Likely) pathogenic	1 lab	3308243ca3
2:179444672 TTN C>T	2	179444672	179444672	C	T	TTN	c.67342G>A	NM_001267550.2	NP_001254479.2:p.(Ala22448Thr)	NC_000002.11:g.179444672C>T	VUS	1 lab	330a91cdff
2:179412921 TTN C>A	2	179412921	179412921	C	A	TTN	c.93432G>T	NM_001267550.2	NP_001254479.2:p.(Arg31144=)	NC_000002.11:g.179412921C>A	(Likely) benign	1 lab	330bc9026a
1:41300756 KCNQ4 G>C	1	41300756	41300756	G	C	KCNQ4	c.1731G>C	NM_004700.4	NP_004691.2:p.(Lys577Asn)	NC_000001.10:g.41300756G>C	VUS	1 lab	330e7943e3
8:94767208 TMEM67 G>A	8	94767208	94767208	G	A	TMEM67	c.66G>A	NM_153704.6	NP_714915.3:p.(Val22=)	NC_000008.10:g.94767208G>A	(Likely) benign	1 lab	3311d643bd
14:23858828 MYH6 TG>T	14	23858828	23858831	TG	T	MYH6	c.3832del	NM_002471.4	NP_002462.2:p.(Gln1278SerfsTer16)	NC_000014.8:g.23858831del	VUS	1 lab	3315a32471
13:32914043 BRCA2 A>T	13	32914043	32914043	A	T	BRCA2	c.5551A>T	NM_000059.4	NP_000050.3:p.(Ile1851Phe)	NC_000013.10:g.32914043A>T	VUS	1 lab	3318cc11e2
17:78302157 RNF213 C>A	17	78302157	78302157	C	A	RNF213	c.3397C>A	NM_001256071.3	NP_001243000.2:p.(Gln1133Lys)	NC_000017.10:g.78302157C>A	(Likely) benign	1 lab	331914e3b4
1:31426696 PUM1 T>C	1	31426696	31426696	T	C	PUM1	c.2456A>G	NM_001020658.2	NP_001018494.1:p.(Tyr819Cys)	NC_000001.10:g.31426696T>C	VUS	1 lab	33191a6b78
2:179665413 TTN C>T	2	179665413	179665413	C	T	TTN	c.296-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179665413C>T	(Likely) benign	1 lab	331b11da21
2:179396916 TTN ACTTCT>A	2	179396916	179396924	ACTTCT	A	TTN	c.104421_104425del	NM_001267550.2	NP_001254479.2:p.(Arg34807SerfsTer8)	NC_000002.11:g.179396920_179396924del	(Likely) pathogenic	1 lab	331f37436b
1:39898283 MACF1 G>A	1	39898283	39898283	G	A	MACF1	c.11228G>A	NM_012090.5	NP_036222.3:p.(Arg3743His)	NC_000001.10:g.39898283G>A	(Likely) benign	1 lab	332031c2a2
17:27068575 NEK8 T>C	17	27068575	27068575	T	C	NEK8	c.2036T>C	NM_178170.3	NP_835464.1:p.(Leu679Pro)	NC_000017.10:g.27068575T>C	VUS	1 lab	33218f8a6d
12:52162860 SCN8A A>G	12	52162860	52162860	A	G	SCN8A	c.3113A>G	NM_014191.4	NP_055006.1:p.(Tyr1038Cys)	NC_000012.11:g.52162860A>G	VUS	1 lab	3324883ad1
1:22174600 HSPG2 A>G	1	22174600	22174600	A	G	HSPG2	c.7738-14T>C	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22174600A>G	(Likely) benign	1 lab	33264d448e
21:38126554 HLCS C>T	21	38126554	38126554	C	T	HLCS	c.2174G>A	NM_000411.8	NP_000402.3:p.(Arg725Gln)	NC_000021.8:g.38126554C>T	VUS	1 lab	d9cfe0e592
19:50314458 FUZ GA>G	19	50314458	50314470	GA	G	FUZ	c.492+161del	NM_025129.5	NP_079405.2:p.?	NC_000019.9:g.50314470del	(Likely) benign	1 lab	3336403653
2:158676004 ACVR1 G>T	2	158676004	158676004	G	T	ACVR1	c.-182-933C>A	NM_001105.5	NP_001096.1:p.?	NC_000002.11:g.158676004G>T	(Likely) benign	1 lab	33370f8c38
7:151845195 KMT2C T>C	7	151845195	151845195	T	C	KMT2C	c.13817A>G	NM_170606.3	NP_733751.2:p.(Asp4606Gly)	NC_000007.13:g.151845195T>C	VUS	1 lab	3347e44840
7:128471041 FLNC T>A	7	128471041	128471041	T	A	FLNC	c.350T>A	NM_001458.5	NP_001449.3:p.(Ile117Lys)	NC_000007.13:g.128471041T>A	VUS	1 lab	3348f04316
10:101554167 ABCC2 C>T	10	101554167	101554167	C	T	ABCC2	c.577-3C>T	NM_000392.5	NP_000383.2:p.?	NC_000010.10:g.101554167C>T	(Likely) benign	1 lab	334921e307
2:179582010 TTN G>T	2	179582010	179582010	G	T	TTN	c.25451C>A	NM_001267550.2	NP_001254479.2:p.(Pro8484Gln)	NC_000002.11:g.179582010G>T	VUS	1 lab	334e0310fe
17:73736065 ITGB4 C>T	17	73736065	73736065	C	T	ITGB4	c.2359C>T	NM_001005731.3	NP_001005731.1:p.(Arg787Cys)	NC_000017.10:g.73736065C>T	VUS	1 lab	334f50dc13
19:42471895 ATP1A3 C>T	19	42471895	42471895	C	T	ATP1A3	c.2879G>A	NM_001256214.2	NP_001243143.1:p.(Gly960Glu)	NC_000019.9:g.42471895C>T	VUS	1 lab	33533764c9
10:95072787 MYOF C>T	10	95072787	95072787	C	T	MYOF	c.5879G>A	NM_013451.4	NP_038479.1:p.(Arg1960His)	NC_000010.10:g.95072787C>T	(Likely) benign	1 lab	335367a3fc
7:107336397 SLC26A4 G>C	7	107336397	107336397	G	C	SLC26A4	c.1457G>C	NM_000441.2	NP_000432.1:p.(Cys486Ser)	NC_000007.13:g.107336397G>C	VUS	1 lab	3353da6c16
2:179548695 TTN A>AT	2	179548695	179548711	A	AT	TTN	c.32806+30dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179548711dup	(Likely) benign	1 lab	3356c79b84
7:154645496 DPP6 G>A	7	154645496	154645496	G	A	DPP6	c.1487G>A	NM_001936.5	NP_001927.3:p.(Gly496Asp)	NC_000007.13:g.154645496G>A	(Likely) benign	1 lab	335830288c
14:92347676 FBLN5 G>T	14	92347676	92347676	G	T	FBLN5	c.949C>A	NM_006329.4	NP_006320.2:p.(Pro317Thr)	NC_000014.8:g.92347676G>T	VUS	1 lab	3359aca214
15:85400632 ALPK3 C>T	15	85400632	85400632	C	T	ALPK3	c.2663C>T	NM_020778.5	NP_065829.4:p.(Thr888Ile)	NC_000015.9:g.85400632C>T	VUS	1 lab	335a192599
3:38519958 ACVR2B G>C	3	38519958	38519958	G	C	ACVR2B	c.615G>C	NM_001106.4	NP_001097.2:p.(Trp205Cys)	NC_000003.11:g.38519958G>C	VUS	1 lab	335afdb2b6
1:237944873 RYR2 T>G	1	237944873	237944873	T	G	RYR2	c.11889T>G	NM_001035.3	NP_001026.2:p.(Ser3963Arg)	NC_000001.10:g.237944873T>G	VUS	1 lab	335c2cdc38
19:45868134 ERCC2 G>A	19	45868134	45868134	G	A	ERCC2	c.556C>T	NM_000400.4	NP_000391.1:p.(Arg186Cys)	NC_000019.9:g.45868134G>A	VUS	1 lab	33604e7862
2:179306441 PRKRA GA>G	2	179306441	179306446	GA	G	PRKRA	c.482-11del	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179306446del	(Likely) benign	1 lab	3362f73a7a
4:85676502 WDFY3 C>T	4	85676502	85676502	C	T	WDFY3	c.5476G>A	NM_014991.6	NP_055806.2:p.(Gly1826Arg)	NC_000004.11:g.85676502C>T	(Likely) benign	1 lab	3367c24d17
13:32914663 BRCA2 AT>A	13	32914663	32914666	AT	A	BRCA2	c.6174del	NM_000059.4	NP_000050.3:p.(Phe2058LeufsTer12)	NC_000013.10:g.32914666del	(Likely) pathogenic	1 lab	336b5e829b
6:110146497 FIG4 G>A	6	110146497	110146497	G	A	FIG4	c.*29G>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110146497G>A	(Likely) benign	1 lab	336c99bfb8
3:149238767 WWTR1 G>A	3	149238767	149238767	G	A	WWTR1	c.1028C>T	NM_001348362.2	NP_001335291.1:p.(Ala343Val)	NC_000003.11:g.149238767G>A	VUS	1 lab	3375cb5a78
1:205353494 LEMD1 T>C	1	205353494	205353494	T	C	LEMD1	c.271-2A>G	NM_001199050.2	NP_001185979.1:p.?	NC_000001.10:g.205353494T>C	VUS	1 lab	337a5a47aa
1:156100448 LMNA CGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAG>C	1	156100448	156100570	CGGCTGAAGGACCTGGAGGCTCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGCGAGCTGCATGATCTGCGGGGCCAGGTGGCCAAGGTGAG	C	LMNA	c.399_513+6del	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156100450_156100570del	(Likely) pathogenic	1 lab	337bf9ed93
8:68421781 CPA6 A>G	8	68421781	68421781	A	G	CPA6	c.505T>C	NM_020361.5	NP_065094.3:p.(Tyr169His)	NC_000008.10:g.68421781A>G	VUS	1 lab	337df61fb8
1:39951247 MACF1 T>TGGGAGTCGAGCC	1	39951247	39951271	T	TGGGAGTCGAGCC	MACF1	c.16087_16098dup	NM_012090.5	NP_036222.3:p.(Gly5363_Ala5366dup)	NC_000001.10:g.39951260_39951271dup	VUS	1 lab	33865a2d33
17:78171964 CARD14 A>G	17	78171964	78171964	A	G	CARD14	c.1658+3A>G	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78171964A>G	(Likely) benign	1 lab	338a5933a2
X:46480466 SLC9A7 C>T	X	46480466	46480466	C	T	SLC9A7	c.1766G>A	NM_032591.3	NP_115980.1:p.(Arg589Gln)	NC_000023.10:g.46480466C>T	VUS	1 lab	338de210a8
15:72642915 HEXA C>T	15	72642915	72642915	C	T	HEXA	c.749G>A	NM_000520.6	NP_000511.2:p.(Gly250Asp)	NC_000015.9:g.72642915C>T	(Likely) pathogenic	1 lab	339167f2de
2:50149214 NRXN1 A>G	2	50149214	50149214	A	G	NRXN1	c.4512T>C	NM_001135659.3	NP_001129131.1:p.(His1504=)	NC_000002.11:g.50149214A>G	(Likely) benign	1 lab	3396b906b1
17:40725656 PSMC3IP G>C	17	40725656	40725656	G	C	PSMC3IP	c.101-15C>G	NM_001256015.2	NP_001242944.1:p.?	NC_000017.10:g.40725656G>C	(Likely) benign	1 lab	3398384ddc
1:161192845 APOA2 C>CCACACACA	1	161192845	161192884	C	CCACACACA	APOA2	c.53-13_53-6dup	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192877_161192884dup	(Likely) benign	1 lab	339aa8e762
15:55727237 DNAAF4 T>G	15	55727237	55727237	T	G	DNAAF4	c.913A>C	NM_130810.4	NP_570722.2:p.(Asn305His)	NC_000015.9:g.55727237T>G	VUS	1 lab	339b147b1d
14:105413471 AHNAK2 T>C	14	105413471	105413471	T	C	AHNAK2	c.8317A>G	NM_138420.4	NP_612429.2:p.(Lys2773Glu)	NC_000014.8:g.105413471T>C	(Likely) benign	1 lab	339b89c5b4
12:56631513 SLC39A5 T>C	12	56631513	56631513	T	C	SLC39A5	c.1621T>C	NM_173596.3	NP_775867.2:p.(Ter541ArgextTer26)	NC_000012.11:g.56631513T>C	VUS	1 lab	339bd4f698
16:87678441 JPH3 C>T	16	87678441	87678441	C	T	JPH3	c.960C>T	NM_020655.4	NP_065706.2:p.(Arg320=)	NC_000016.9:g.87678441C>T	(Likely) benign	1 lab	339d1dafda
2:179414505 TTN AC>A	2	179414505	179414507	AC	A	TTN	c.91943del	NM_001267550.2	NP_001254479.2:p.(Gly30648ValfsTer5)	NC_000002.11:g.179414507del	(Likely) pathogenic	1 lab	339f4e2ea1
10:112340785 SMC3 A>G	10	112340785	112340785	A	G	SMC3	c.547+6A>G	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112340785A>G	(Likely) benign	1 lab	339fd92060
1:201338896 TNNT2 T>C	1	201338896	201338896	T	C	TNNT2	c.68-1541A>G	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201338896T>C	(Likely) benign	1 lab	33a4955d98
9:6558659 GLDC T>C	9	6558659	6558659	T	C	GLDC	c.1952A>G	NM_000170.3	NP_000161.2:p.(His651Arg)	NC_000009.11:g.6558659T>C	(Likely) pathogenic	1 lab	33a4ebb40c
19:50752380 MYH14 G>A	19	50752380	50752380	G	A	MYH14	c.1442G>A	NM_024729.4	NP_079005.3:p.(Gly481Asp)	NC_000019.9:g.50752380G>A	VUS	1 lab	33a7f87985
19:11097220 SMARCA4 CCCCGGCCCGGGT>C	19	11097220	11097242	CCCCGGCCCGGGT	C	SMARCA4	c.722_733del	NM_001128844.3	NP_001122316.1:p.(Gly241_Pro244del)	NC_000019.9:g.11097231_11097242del	(Likely) benign	1 lab	33a8704658
3:127786820 SEC61A1 C>G	3	127786820	127786820	C	G	SEC61A1	c.1168-6C>G	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127786820C>G	(Likely) benign	1 lab	33ab1b456e
2:173352258 ITGA6 G>A	2	173352258	173352258	G	A	ITGA6	c.2161-17G>A	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173352258G>A	(Likely) benign	1 lab	33ae738875
3:48616925 COL7A1 G>A	3	48616925	48616925	G	A	COL7A1	c.5259C>T	NM_000094.4	NP_000085.1:p.(Pro1753=)	NC_000003.11:g.48616925G>A	(Likely) benign	1 lab	33af812e4d
2:114002076 PAX8 T>C	2	114002076	114002076	T	C	PAX8	c.317A>G	NM_003466.4	NP_003457.1:p.(Glu106Gly)	NC_000002.11:g.114002076T>C	VUS	1 lab	33b07f9012
17:63534371 AXIN2 C>G	17	63534371	63534371	C	G	AXIN2	c.1150G>C	NM_004655.4	NP_004646.3:p.(Glu384Gln)	NC_000017.10:g.63534371C>G	VUS	1 lab	33b2cc0f99
3:128200776 GATA2 TCTGGCGGCCGA>T	3	128200776	128200791	TCTGGCGGCCGA	T	GATA2	c.1018_1028del	NM_032638.5	NP_116027.2:p.(Ser340LysfsTer40)	NC_000003.11:g.128200781_128200791del	(Likely) pathogenic	1 lab	33b50f5022
10:18266992 SLC39A12 TC>T	10	18266992	18266994	TC	T	SLC39A12	c.915del	NM_001145195.2	NP_001138667.1:p.(Trp306GlyfsTer31)	NC_000010.10:g.18266994del	VUS	1 lab	33bc39c374
2:179438171 TTN C>T	2	179438171	179438171	C	T	TTN	c.72688G>A	NM_001267550.2	NP_001254479.2:p.(Glu24230Lys)	NC_000002.11:g.179438171C>T	VUS	1 lab	33c490aa7d
7:94038733 COL1A2 G>A	7	94038733	94038733	G	A	COL1A2	c.891+1G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038733G>A	(Likely) pathogenic	1 lab	33c55dcfff
15:32685776 GOLGA8K A>G	15	32685776	32685776	A	G	GOLGA8K	c.1366-5T>C	NM_001282493.1	NP_001269422.1:p.?	NC_000015.9:g.32685776A>G	VUS	1 lab	33c7c1bab3
2:179468633 TTN A>G	2	179468633	179468633	A	G	TTN	c.54781T>C	NM_001267550.2	NP_001254479.2:p.(Ser18261Pro)	NC_000002.11:g.179468633A>G	VUS	1 lab	33c9407750
2:47703512 MSH2 A>G	2	47703512	47703512	A	G	MSH2	c.2012A>G	NM_000251.3	NP_000242.1:p.(Asn671Ser)	NC_000002.11:g.47703512A>G	VUS	1 lab	33cecd7c6f
8:27634487 ESCO2 A>T	8	27634487	27634487	A	T	ESCO2	c.662A>T	NM_001017420.3	NP_001017420.1:p.(Lys221Ile)	NC_000008.10:g.27634487A>T	VUS	1 lab	33cfd9e22e
2:113332905 POLR1B C>A	2	113332905	113332905	C	A	POLR1B	c.3007C>A	NM_019014.6	NP_061887.2:p.(Arg1003Ser)	NC_000002.11:g.113332905C>A	(Likely) pathogenic	1 lab	33d1d444d4
5:59284457 PDE4D G>A	5	59284457	59284457	G	A	PDE4D	c.100C>T	NM_001349241.2	NP_001336170.1:p.(Arg34Cys)	NC_000005.9:g.59284457G>A	VUS	1 lab	33d4b3796f
7:21730468 DNAH11 G>A	7	21730468	21730468	G	A	DNAH11	c.6010G>A	NM_001277115.2	NP_001264044.1:p.(Glu2004Lys)	NC_000007.13:g.21730468G>A	VUS	1 lab	33d786285e
2:47639665 MSH2 TG>T	2	47639665	47639666	TG	T	MSH2	c.759del	NM_000251.3	NP_000242.1:p.(Met253IlefsTer21)	NC_000002.11:g.47639666del	(Likely) pathogenic	1 lab	33dbe6fa20
1:151141495 SCNM1 G>C	1	151141495	151141495	G	C	SCNM1	c.627G>C	NM_024041.4	NP_076946.1:p.(Trp209Cys)	NC_000001.10:g.151141495G>C	VUS	1 lab	33e92693e9
7:6037009 PMS2 C>T	7	6037009	6037009	C	T	PMS2	c.751G>A	NM_000535.7	NP_000526.2:p.(Val251Met)	NC_000007.13:g.6037009C>T	VUS	1 lab	33eaa1ef83
16:8904983 PMM2 T>C	16	8904983	8904983	T	C	PMM2	c.395T>C	NM_000303.3	NP_000294.1:p.(Ile132Thr)	NC_000016.9:g.8904983T>C	(Likely) pathogenic	1 lab	33edce3dfe
11:119155912 CBL C>G	11	119155912	119155912	C	G	CBL	c.1577C>G	NM_005188.4	NP_005179.2:p.(Ser526Cys)	NC_000011.9:g.119155912C>G	VUS	1 lab	33ee30eb6d
2:166892767 SCN1A C>T	2	166892767	166892767	C	T	SCN1A	c.3220G>A	NM_001202435.3	NP_001189364.1:p.(Asp1074Asn)	NC_000002.11:g.166892767C>T	VUS	1 lab	33eef94126
3:48616936 COL7A1 AC>A	3	48616936	48616939	AC	A	COL7A1	c.5247del	NM_000094.4	NP_000085.1:p.(Arg1751GlyfsTer90)	NC_000003.11:g.48616939del	(Likely) pathogenic	1 lab	33ef1f6118
X:152825263 ATP2B3 C>T	X	152825263	152825263	C	T	ATP2B3	c.2702C>T	NM_001001344.2	NP_001001344.1:p.(Thr901Met)	NC_000023.10:g.152825263C>T	VUS	1 lab	33f007ba82
2:48808020 STON1 C>T	2	48808020	48808020	C	T	STON1	c.248C>T	NM_001198595.2	NP_001185524.1:p.(Thr83Ile)	NC_000002.11:g.48808020C>T	VUS	1 lab	33f3375213
8:118819578 EXT1 C>T	8	118819578	118819578	C	T	EXT1	c.1761G>A	NM_000127.3	NP_000118.2:p.(Glu587=)	NC_000008.10:g.118819578C>T	(Likely) benign	1 lab	33f7380a6c
3:12856796 CAND2 G>A	3	12856796	12856796	G	A	CAND2	c.884G>A	NM_012298.3	NP_036430.1:p.(Arg295His)	NC_000003.11:g.12856796G>A	VUS	1 lab	33f7b5e62f
X:70787360 OGT G>A	X	70787360	70787360	G	A	OGT	c.2600G>A	NM_181672.3	NP_858058.1:p.(Arg867His)	NC_000023.10:g.70787360G>A	VUS	1 lab	33fe2f0ddc
3:48612834 COL7A1 C>T	3	48612834	48612834	C	T	COL7A1	c.6118G>A	NM_000094.4	NP_000085.1:p.(Gly2040Ser)	NC_000003.11:g.48612834C>T	(Likely) pathogenic	1 lab	33ff2273ec
4:39191380 WDR19 G>A	4	39191380	39191380	G	A	WDR19	c.269G>A	NM_025132.4	NP_079408.3:p.(Ser90Asn)	NC_000004.11:g.39191380G>A	VUS	1 lab	3400ad931e
1:207646462 CR2 G>A	1	207646462	207646462	G	A	CR2	c.1916G>A	NM_001006658.3	NP_001006659.1:p.(Ser639Asn)	NC_000001.10:g.207646462G>A	(Likely) benign	1 lab	34023ff64a
11:108150232 ATM C>T	11	108150232	108150232	C	T	ATM	c.3299C>T	NM_000051.4	NP_000042.3:p.(Thr1100Met)	NC_000011.9:g.108150232C>T	VUS	1 lab	3402e9ab25
22:29533599 KREMEN1 G>A	22	29533599	29533599	G	A	KREMEN1	c.901G>A	NM_032045.5	NP_114434.3:p.(Val301Ile)	NC_000022.10:g.29533599G>A	VUS	1 lab	34075dd1e5
12:123741444 MTRFR GA>G	12	123741444	123741448	GA	G	MTRFR	c.371del	NM_152269.5	NP_689482.1:p.(Asn124ThrfsTer52)	NC_000012.11:g.123741448del	(Likely) pathogenic	1 lab	340b86df95
5:14741965 ANKH T>C	5	14741965	14741965	T	C	ANKH	c.982A>G	NM_054027.6	NP_473368.1:p.(Thr328Ala)	NC_000005.9:g.14741965T>C	VUS	1 lab	340c0665ec
X:48672957 HDAC6 A>G	X	48672957	48672957	A	G	HDAC6	c.917A>G	NM_006044.4	NP_006035.2:p.(Asn306Ser)	NC_000023.10:g.48672957A>G	VUS	1 lab	35988bbff9
16:88782507 PIEZO1 C>T	16	88782507	88782507	C	T	PIEZO1	c.7150G>A	NM_001142864.4	NP_001136336.2:p.(Gly2384Ser)	NC_000016.9:g.88782507C>T	VUS	1 lab	34189c4029
19:6495434 TUBB4A C>T	19	6495434	6495434	C	T	TUBB4A	c.1076G>A	NM_006087.4	NP_006078.2:p.(Arg359His)	NC_000019.9:g.6495434C>T	VUS	1 lab	341a9141a6
11:47354813 MYBPC3 G>T	11	47354813	47354813	G	T	MYBPC3	c.3262C>A	NM_000256.3	NP_000247.2:p.(Pro1088Thr)	NC_000011.9:g.47354813G>T	VUS	1 lab	341c980111
2:208986637 CRYGD T>C	2	208986637	208986637	T	C	CRYGD	c.285A>G	NM_006891.4	NP_008822.2:p.(Arg95=)	NC_000002.11:g.208986637T>C	(Likely) benign	1 lab	3421e57619
5:112175858 APC AGAATAATGCCTCCAGTTCAGGAAAATGACAATGG>A	5	112175858	112175896	AGAATAATGCCTCCAGTTCAGGAAAATGACAATGG	A	APC	c.4572_4605del	NM_000038.6	NP_000029.2:p.(Ile1524MetfsTer30)	NC_000005.9:g.112175863_112175896del	(Likely) pathogenic	1 lab	34292900f8
7:99796885 STAG3 C>T	7	99796885	99796885	C	T	STAG3	c.1468C>T	NM_012447.4	NP_036579.2:p.(Leu490Phe)	NC_000007.13:g.99796885C>T	VUS	1 lab	3429a4ad1c
2:179544969 TTN GC>G	2	179544969	179544971	GC	G	TTN	c.33418+11del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544971del	(Likely) benign	1 lab	342b83d3a3
17:73729758 ITGB4 G>A	17	73729758	73729758	G	A	ITGB4	c.1642G>A	NM_000213.5	NP_000204.3:p.(Gly548Arg)	NC_000017.10:g.73729758G>A	(Likely) pathogenic	1 lab	34331e4547
6:118786602 CEP85L G>T	6	118786602	118786602	G	T	CEP85L	c.2384C>A	NM_001042475.3	NP_001035940.1:p.(Ala795Asp)	NC_000006.11:g.118786602G>T	VUS	1 lab	34358172fc
12:56143429 GDF11 G>A	12	56143429	56143429	G	A	GDF11	c.987G>A	NM_005811.5	NP_005802.1:p.(Trp329Ter)	NC_000012.11:g.56143429G>A	VUS	1 lab	3436e04637
7:124532385 POT1 C>T	7	124532385	124532385	C	T	POT1	c.59G>A	NM_015450.3	NP_056265.2:p.(Gly20Asp)	NC_000007.13:g.124532385C>T	VUS	1 lab	34382be1ed
3:9486860 SETD5 C>G	3	9486860	9486860	C	G	SETD5	c.1316C>G	NM_001080517.3	NP_001073986.1:p.(Thr439Ser)	NC_000003.11:g.9486860C>G	VUS	1 lab	3438f21947
1:40558081 PPT1 T>G	1	40558081	40558081	T	G	PPT1	c.223A>C	NM_000310.4	NP_000301.1:p.(Thr75Pro)	NC_000001.10:g.40558081T>G	(Likely) pathogenic	1 lab	343c8f48a2
1:226075649 LEFTY1 C>T	1	226075649	226075649	C	T	LEFTY1	c.334G>A	NM_020997.4	NP_066277.1:p.(Glu112Lys)	NC_000001.10:g.226075649C>T	VUS	1 lab	3440f97590
1:10596341 PEX14 C>T	1	10596341	10596341	C	T	PEX14	c.156C>T	NM_004565.3	NP_004556.1:p.(Phe52=)	NC_000001.10:g.10596341C>T	(Likely) benign	1 lab	344791edc3
1:152275781 FLG A>T	1	152275781	152275781	A	T	FLG	c.11581T>A	NM_002016.2	NP_002007.1:p.(Ser3861Thr)	NC_000001.10:g.152275781A>T	VUS	1 lab	34510677b9
16:2221325 TRAF7 G>A	16	2221325	2221325	G	A	TRAF7	c.409G>A	NM_032271.3	NP_115647.2:p.(Val137Ile)	NC_000016.9:g.2221325G>A	(Likely) benign	1 lab	345cc9bf03
14:23871699 MYH6 T>TCCTC	14	23871699	23871705	T	TCCTC	MYH6	c.1111_1114dup	NM_002471.4	NP_002462.2:p.(Glu372GlyfsTer13)	NC_000014.8:g.23871702_23871705dup	VUS	1 lab	345e8abc45
11:108098533 ATM C>T	11	108098533	108098533	C	T	ATM	c.103C>T	NM_000051.4	NP_000042.3:p.(Arg35Ter)	NC_000011.9:g.108098533C>T	(Likely) pathogenic	1 lab	3462f9b657
16:28883193 SH2B1 C>G	16	28883193	28883193	C	G	SH2B1	c.1402C>G	NM_001145795.2	NP_001139267.1:p.(Leu468Val)	NC_000016.9:g.28883193C>G	VUS	1 lab	346491b29f
1:116206829 VANGL1 C>T	1	116206829	116206829	C	T	VANGL1	c.752C>T	NM_138959.3	NP_620409.1:p.(Thr251Met)	NC_000001.10:g.116206829C>T	(Likely) benign	1 lab	3469006b77
X:135084373 SLC9A6 G>A	X	135084373	135084373	G	A	SLC9A6	c.803+1G>A	NM_006359.3	NP_006350.1:p.?	NC_000023.10:g.135084373G>A	(Likely) pathogenic	1 lab	346cce3e67
20:33148725 PIGU T>A	20	33148725	33148725	T	A	PIGU	c.1253A>T	NM_080476.5	NP_536724.1:p.(His418Leu)	NC_000020.10:g.33148725T>A	VUS	1 lab	3470b9bf39
12:46244253 ARID2 A>T	12	46244253	46244253	A	T	ARID2	c.2347A>T	NM_152641.4	NP_689854.2:p.(Ile783Phe)	NC_000012.11:g.46244253A>T	VUS	1 lab	3477fd9cd3
20:2845049 VPS16 C>T	20	2845049	2845049	C	T	VPS16	c.1759C>T	NM_022575.4	NP_072097.2:p.(Arg587Ter)	NC_000020.10:g.2845049C>T	(Likely) pathogenic	1 lab	3482d80bb9
10:43613906 RET G>C	10	43613906	43613906	G	C	RET	c.2370G>C	NM_020975.6	NP_066124.1:p.(Leu790Phe)	NC_000010.10:g.43613906G>C	(Likely) pathogenic	1 lab	34844b9d80
21:47754471 PCNT G>GTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCA	21	47754471	47754488	G	GTGGGATGTTCACAGTCGGTGACCACCCACCAGAACAGCA	PCNT	c.444_445insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC	NM_006031.6	NP_006022.3:p.(Val148_Ser149insGlyAspHisProProGluGlnHisGlyMetPheThrVal)	NC_000021.8:g.47754487_47754488insGGTGACCACCCACCAGAACAGCATGGGATGTTCACAGTC	(Likely) benign	1 lab	34851a87d0
18:21529877 LAMA3 A>C	18	21529877	21529877	A	C	LAMA3	c.9500A>C	NM_198129.4	NP_937762.2:p.(His3167Pro)	NC_000018.9:g.21529877A>C	VUS	1 lab	34861cd347
1:74808812 TNNI3K GA>G	1	74808812	74808814	GA	G	TNNI3K	c.883del	NM_015978.3	NP_057062.1:p.(Thr295GlnfsTer4)	NC_000001.10:g.74808814del	VUS	1 lab	3489d87b24
22:37273742 NCF4 G>A	22	37273742	37273742	G	A	NCF4	c.897G>A	NM_000631.5	NP_000622.2:p.(Ser299=)	NC_000022.10:g.37273742G>A	(Likely) benign	1 lab	3491afdff0
10:70765561 KIFBP G>A	10	70765561	70765561	G	A	KIFBP	c.679G>A	NM_015634.4	NP_056449.1:p.(Ala227Thr)	NC_000010.10:g.70765561G>A	VUS	1 lab	349275973a
4:186068002 SLC25A4 G>C	4	186068002	186068002	G	C	SLC25A4	c.774G>C	NM_001151.4	NP_001142.2:p.(Trp258Cys)	NC_000004.11:g.186068002G>C	VUS	1 lab	3492a06751
17:5336594 C1QBP C>A	17	5336594	5336594	C	A	C1QBP	c.699+19G>T	NM_001212.4	NP_001203.1:p.?	NC_000017.10:g.5336594C>A	(Likely) benign	1 lab	34950c11d4
22:23632513 BCR A>G	22	23632513	23632513	A	G	BCR	c.2708-13A>G	NM_004327.4	NP_004318.3:p.?	NC_000022.10:g.23632513A>G	(Likely) benign	1 lab	3497e3115c
11:65107996 DPF2 AAAAGCGAC>A	11	65107996	65108005	AAAAGCGAC	A	DPF2	c.175_182del	NM_006268.5	NP_006259.1:p.(Lys59ProfsTer28)	NC_000011.9:g.65107998_65108005del	VUS	1 lab	349c21f842
2:55863360 PNPT1 T>TA	2	55863360	55863371	T	TA	PNPT1	c.*11dup	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55863371dup	(Likely) benign	1 lab	349cfe76da
9:73736268 TRPM3 C>A	9	73736268	73736268	C	A	TRPM3	c.3G>T	NM_001366147.2	NP_001353076.1:p.(Met1?)	NC_000009.11:g.73736268C>A	VUS	1 lab	349d8e5dca
18:32374028 DTNA T>C	18	32374028	32374028	T	C	DTNA	c.176T>C	NM_001198939.2	NP_001185868.1:p.(Ile59Thr)	NC_000018.9:g.32374028T>C	VUS	1 lab	349f9b1775
9:443482 DOCK8 C>A	9	443482	443482	C	A	DOCK8	c.5546C>A	NM_203447.4	NP_982272.2:p.(Thr1849Asn)	NC_000009.11:g.443482C>A	VUS	1 lab	34a06993bb
12:52843285 KRT6B T>G	12	52843285	52843285	T	G	KRT6B	c.1045A>C	NM_005555.4	NP_005546.2:p.(Arg349=)	NC_000012.11:g.52843285T>G	(Likely) benign	1 lab	34a2e5e13b
3:38640537 SCN5A G>A	3	38640537	38640537	G	A	SCN5A	c.1895C>T	NM_001099404.2	NP_001092874.1:p.(Thr632Met)	NC_000003.11:g.38640537G>A	VUS	1 lab	34a4e793c8
14:23895023 MYH7 G>T	14	23895023	23895023	G	T	MYH7	c.2167C>A	NM_000257.4	NP_000248.2:p.(Arg723Ser)	NC_000014.8:g.23895023G>T	(Likely) pathogenic	1 lab	34aa4ad611
16:1498996 CLCN7 C>A	16	1498996	1498996	C	A	CLCN7	c.1768G>T	NM_001287.6	NP_001278.1:p.(Ala590Ser)	NC_000016.9:g.1498996C>A	VUS	1 lab	34ae0c8958
14:50585396 SOS2 C>T	14	50585396	50585396	C	T	SOS2	c.3665G>A	NM_006939.4	NP_008870.2:p.(Arg1222Gln)	NC_000014.8:g.50585396C>T	(Likely) benign	1 lab	34b2ea8fcb
13:32893237 BRCA2 T>C	13	32893237	32893237	T	C	BRCA2	c.91T>C	NM_000059.4	NP_000050.3:p.(Trp31Arg)	NC_000013.10:g.32893237T>C	(Likely) pathogenic	1 lab	34b8e147fe
2:169996053 LRP2 T>C	2	169996053	169996053	T	C	LRP2	c.13267A>G	NM_004525.3	NP_004516.2:p.(Thr4423Ala)	NC_000002.11:g.169996053T>C	VUS	1 lab	34bb9f915a
18:32374091 DTNA G>A	18	32374091	32374091	G	A	DTNA	c.239G>A	NM_001198939.2	NP_001185868.1:p.(Arg80His)	NC_000018.9:g.32374091G>A	VUS	1 lab	34bdae2c98
1:155161695 MUC1 C>T	1	155161695	155161695	C	T	MUC1	c.159+279G>A	NM_002456.6	NP_002447.4:p.?	NC_000001.10:g.155161695C>T	(Likely) benign	1 lab	34c0db5878
11:35282505 SLC1A2 A>C	11	35282505	35282505	A	C	SLC1A2	c.1661T>G	NM_004171.4	NP_004162.2:p.(Leu554Arg)	NC_000011.9:g.35282505A>C	VUS	1 lab	34cc288748
2:166898843 SCN1A C>T	2	166898843	166898843	C	T	SCN1A	c.2135G>A	NM_001165963.4	NP_001159435.1:p.(Arg712Gln)	NC_000002.11:g.166898843C>T	VUS	1 lab	351feadc2d
21:33067215 SCAF4 C>T	21	33067215	33067215	C	T	SCAF4	c.1147G>A	NM_020706.2	NP_065757.1:p.(Val383Met)	NC_000021.8:g.33067215C>T	VUS	1 lab	34cf05fdae
12:122079527 ORAI1 C>T	12	122079527	122079527	C	T	ORAI1	c.884C>T	NM_032790.3	NP_116179.2:p.(Thr295Met)	NC_000012.11:g.122079527C>T	VUS	1 lab	34d17c374f
19:6711092 C3 C>T	19	6711092	6711092	C	T	C3	c.1385G>A	NM_000064.4	NP_000055.2:p.(Arg462His)	NC_000019.9:g.6711092C>T	VUS	1 lab	34d62e08b8
1:16257893 SPEN G>A	1	16257893	16257893	G	A	SPEN	c.5158G>A	NM_015001.3	NP_055816.2:p.(Glu1720Lys)	NC_000001.10:g.16257893G>A	(Likely) benign	1 lab	34dd8ffe7a
9:2039621 SMARCA2 C>A	9	2039621	2039621	C	A	SMARCA2	c.511C>A	NM_003070.5	NP_003061.3:p.(Pro171Thr)	NC_000009.11:g.2039621C>A	VUS	1 lab	34e71d7d65
8:68536470 CPA6 A>G	8	68536470	68536470	A	G	CPA6	c.133T>C	NM_020361.5	NP_065094.3:p.(Phe45Leu)	NC_000008.10:g.68536470A>G	(Likely) benign	1 lab	34e741c130
6:118804980 CEP85L T>A	6	118804980	118804980	T	A	CEP85L	c.1479A>T	NM_001042475.3	NP_001035940.1:p.(Lys493Asn)	NC_000006.11:g.118804980T>A	VUS	1 lab	34ea4abcb8
2:179431565 TTN G>A	2	179431565	179431565	G	A	TTN	c.79294C>T	NM_001267550.2	NP_001254479.2:p.(Arg26432Ter)	NC_000002.11:g.179431565G>A	(Likely) pathogenic	1 lab	34f0a2d945
X:153133926 L1CAM C>T	X	153133926	153133926	C	T	L1CAM	c.1547-13G>A	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153133926C>T	(Likely) benign	1 lab	34f908a127
15:57931723 MYZAP G>A	15	57931723	57931723	G	A	MYZAP	c.1099G>A	NM_001018100.5	NP_001018110.1:p.(Val367Ile)	NC_000015.9:g.57931723G>A	VUS	1 lab	34ff32b3e1
18:3452339 TGIF1 A>G	18	3452339	3452339	A	G	TGIF1	c.-86A>G	NM_170695.5	NP_733796.3:p.?	NC_000018.9:g.3452339A>G	(Likely) benign	1 lab	3500c11af7
8:77764205 ZFHX4 C>T	8	77764205	77764205	C	T	ZFHX4	c.5048C>T	NM_024721.5	NP_078997.4:p.(Pro1683Leu)	NC_000008.10:g.77764205C>T	VUS	1 lab	350554a5d2
2:162280621 TBR1 C>A	2	162280621	162280621	C	A	TBR1	c.1932C>A	NM_006593.4	NP_006584.1:p.(Asp644Glu)	NC_000002.11:g.162280621C>A	(Likely) benign	1 lab	3506c7c423
10:75854187 VCL T>C	10	75854187	75854187	T	C	VCL	c.1511T>C	NM_014000.3	NP_054706.1:p.(Ile504Thr)	NC_000010.10:g.75854187T>C	VUS	1 lab	3508d751d8
20:42747187 JPH2 G>A	20	42747187	42747187	G	A	JPH2	c.1246C>T	NM_020433.5	NP_065166.2:p.(Arg416Cys)	NC_000020.10:g.42747187G>A	VUS	1 lab	350b145bb1
2:51255091 NRXN1 C>A	2	51255091	51255091	C	A	NRXN1	c.321G>T	NM_001135659.3	NP_001129131.1:p.(Thr107=)	NC_000002.11:g.51255091C>A	(Likely) benign	1 lab	350e63afa3
2:238449107 MLPH A>G	2	238449107	238449107	A	G	MLPH	c.1221A>G	NM_024101.7	NP_077006.1:p.(Glu407=)	NC_000002.11:g.238449107A>G	(Likely) benign	1 lab	350eed1614
17:27573916 CRYBA1 A>G	17	27573916	27573916	A	G	CRYBA1	c.31+4A>G	NM_005208.5	NP_005199.2:p.?	NC_000017.10:g.27573916A>G	VUS	1 lab	35220fc887
15:101718097 CHSY1 C>G	15	101718097	101718097	C	G	CHSY1	c.1905G>C	NM_014918.5	NP_055733.2:p.(Val635=)	NC_000015.9:g.101718097C>G	(Likely) benign	1 lab	3524ae65bb
6:90661218 BACH2 C>T	6	90661218	90661218	C	T	BACH2	c.607G>A	NM_021813.4	NP_068585.1:p.(Glu203Lys)	NC_000006.11:g.90661218C>T	VUS	1 lab	3525f822ab
19:48204620 BICRA C>G	19	48204620	48204620	C	G	BICRA	c.3631C>G	NM_015711.3	NP_056526.3:p.(Pro1211Ala)	NC_000019.9:g.48204620C>G	(Likely) benign	1 lab	3526159ec0
8:61778455 CHD7 G>C	8	61778455	61778455	G	C	CHD7	c.8957G>C	NM_017780.4	NP_060250.2:p.(Gly2986Ala)	NC_000008.10:g.61778455G>C	VUS	1 lab	35278a3681
2:179560072 TTN T>G	2	179560072	179560072	T	G	TTN	c.31270+3A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179560072T>G	(Likely) benign	1 lab	3529bf2d86
2:179453742 TTN A>G	2	179453742	179453742	A	G	TTN	c.62710T>C	NM_001267550.2	NP_001254479.2:p.(Cys20904Arg)	NC_000002.11:g.179453742A>G	VUS	1 lab	352f19a30d
16:774520 CCDC78 C>T	16	774520	774520	C	T	CCDC78	c.766-11G>A	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.774520C>T	(Likely) benign	1 lab	3548efda3c
14:91883499 CCDC88C G>A	14	91883499	91883499	G	A	CCDC88C	c.61-317C>T	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91883499G>A	(Likely) benign	1 lab	357321a23c
5:33954511 SLC45A2 T>C	5	33954511	33954511	T	C	SLC45A2	c.987A>G	NM_001012509.4	NP_001012527.2:p.(Thr329=)	NC_000005.9:g.33954511T>C	(Likely) benign	1 lab	354bb2c654
12:65609805 LEMD3 C>T	12	65609805	65609805	C	T	LEMD3	c.1609C>T	NM_014319.5	NP_055134.2:p.(Arg537Ter)	NC_000012.11:g.65609805C>T	(Likely) pathogenic	1 lab	354f0d2364
X:153791864 IKBKG C>T	X	153791864	153791864	C	T	IKBKG	c.1003C>T	NM_001099857.5	NP_001093327.1:p.(Gln335Ter)	NC_000023.10:g.153791864C>T	(Likely) pathogenic	1 lab	3554d2c1a2
14:65216146 SPTB C>T	14	65216146	65216146	C	T	SPTB	c.6865G>A	NM_001355436.2	NP_001342365.1:p.(Glu2289Lys)	NC_000014.8:g.65216146C>T	VUS	1 lab	35553bc93e
16:67976974 LCAT C>G	16	67976974	67976974	C	G	LCAT	c.296G>C	NM_000229.2	NP_000220.1:p.(Trp99Ser)	NC_000016.9:g.67976974C>G	(Likely) pathogenic	1 lab	355652cea3
11:85692181 PICALM A>C	11	85692181	85692181	A	C	PICALM	c.1770T>G	NM_007166.4	NP_009097.2:p.(Ala590=)	NC_000011.9:g.85692181A>C	(Likely) benign	1 lab	355be4285b
2:27528579 TRIM54 T>C	2	27528579	27528579	T	C	TRIM54	c.863T>C	NM_032546.4	NP_115935.3:p.(Val288Ala)	NC_000002.11:g.27528579T>C	VUS	1 lab	356405e84a
12:53343236 KRT18 T>C	12	53343236	53343236	T	C	KRT18	c.279T>C	NM_000224.3	NP_000215.1:p.(Ser93=)	NC_000012.11:g.53343236T>C	(Likely) benign	1 lab	35662bc6df
17:57758790 CLTC A>C	17	57758790	57758790	A	C	CLTC	c.3212A>C	NM_001288653.2	NP_001275582.1:p.(Glu1071Ala)	NC_000017.10:g.57758790A>C	VUS	1 lab	35699c2d81
9:35807401 NPR2 AGCTGGGGCC>A	9	35807401	35807414	AGCTGGGGCC	A	NPR2	c.2712+11_2712+19del	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35807406_35807414del	(Likely) benign	1 lab	356d4f0bee
8:38005835 STAR T>C	8	38005835	38005835	T	C	STAR	c.189=	NM_000349.3	NP_000340.2:p.(Leu63=)	NC_000008.10:g.38005835T>C	(Likely) benign	1 lab	3574663fb1
21:45518250 TRAPPC10 G>A	21	45518250	45518250	G	A	TRAPPC10	c.3181G>A	NM_003274.5	NP_003265.3:p.(Val1061Met)	NC_000021.8:g.45518250G>A	VUS	1 lab	357b944191
5:149637163 CAMK2A T>C	5	149637163	149637163	T	C	CAMK2A	c.235A>G	NM_015981.4	NP_057065.2:p.(Ile79Val)	NC_000005.9:g.149637163T>C	VUS	1 lab	3581f5c3a4
3:33137594 GLB1 A>G	3	33137594	33137594	A	G	GLB1	c.75+909T>C	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33137594A>G	(Likely) benign	1 lab	3583a870d7
6:17507942 CAP2 A>C	6	17507942	17507942	A	C	CAP2	c.515A>C	NM_006366.3	NP_006357.1:p.(Lys172Thr)	NC_000006.11:g.17507942A>C	VUS	1 lab	358a0b2ac6
22:19898967 TXNRD2 C>T	22	19898967	19898967	C	T	TXNRD2	c.592G>A	NM_001352300.2	NP_001339229.1:p.(Glu198Lys)	NC_000022.10:g.19898967C>T	VUS	1 lab	358a97d528
14:50626803 SOS2 C>T	14	50626803	50626803	C	T	SOS2	c.1198G>A	NM_006939.4	NP_008870.2:p.(Asp400Asn)	NC_000014.8:g.50626803C>T	(Likely) benign	1 lab	3594224225
12:42858882 PRICKLE1 G>A	12	42858882	42858882	G	A	PRICKLE1	c.954C>T	NM_153026.3	NP_694571.2:p.(Ser318=)	NC_000012.11:g.42858882G>A	(Likely) benign	1 lab	359ba6da3e
1:74901739 TNNI3K CT>C	1	74901739	74901759	CT	C	TNNI3K	c.1773-5del	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74901759del	(Likely) benign	1 lab	359e3dd42e
4:74318330 AFP A>G	4	74318330	74318330	A	G	AFP	c.1641A>G	NM_001134.3	NP_001125.1:p.(Thr547=)	NC_000004.11:g.74318330A>G	(Likely) benign	1 lab	35a7410851
3:50405113 CACNA2D2 C>T	3	50405113	50405113	C	T	CACNA2D2	c.2257G>A	NM_006030.4	NP_006021.2:p.(Ala753Thr)	NC_000003.11:g.50405113C>T	VUS	1 lab	35a893ef97
6:31084684 CDSN G>A	6	31084684	31084684	G	A	CDSN	c.708C>T	NM_001264.5	NP_001255.4:p.(Ser236=)	NC_000006.11:g.31084684G>A	(Likely) benign	1 lab	35a9bc31b4
12:110734513 ATP2A2 T>TA	12	110734513	110734514	T	TA	ATP2A2	c.435dup	NM_170665.4	NP_733765.1:p.(Val146SerfsTer4)	NC_000012.11:g.110734514dup	(Likely) pathogenic	1 lab	35b0c8d1cf
3:25770685 NGLY1 C>T	3	25770685	25770685	C	T	NGLY1	c.1550G>A	NM_018297.4	NP_060767.2:p.(Trp517Ter)	NC_000003.11:g.25770685C>T	(Likely) pathogenic	1 lab	35b80ec583
11:4103524 STIM1 A>G	11	4103524	4103524	A	G	STIM1	c.1080A>G	NM_001277961.3	NP_001264890.1:p.(Gln360=)	NC_000011.9:g.4103524A>G	(Likely) benign	1 lab	35b83c4224
17:42961084 EFTUD2 G>A	17	42961084	42961084	G	A	EFTUD2	c.359C>T	NM_004247.4	NP_004238.3:p.(Ala120Val)	NC_000017.10:g.42961084G>A	VUS	1 lab	35c87e5037
9:87284589 NTRK2 T>A	9	87284589	87284589	T	A	NTRK2	c.-581-6T>A	NM_001007097.3	NP_001007098.1:p.?	NC_000009.11:g.87284589T>A	(Likely) benign	1 lab	35c8dc9916
19:10935853 DNM2 C>T	19	10935853	10935853	C	T	DNM2	c.2014C>T	NM_001005360.3	NP_001005360.1:p.(Arg672Cys)	NC_000019.9:g.10935853C>T	VUS	1 lab	35ca1bd1c9
6:26156673 H1-4 C>T	6	26156673	26156673	C	T	H1-4	c.55C>T	NM_005321.3	NP_005312.1:p.(Pro19Ser)	NC_000006.11:g.26156673C>T	(Likely) benign	1 lab	35d1d681e1
22:32275678 DEPDC5 A>G	22	32275678	32275678	A	G	DEPDC5	c.3973A>G	NM_001242896.3	NP_001229825.1:p.(Ser1325Gly)	NC_000022.10:g.32275678A>G	VUS	1 lab	35d1f87695
11:102477377 MMP20 G>T	11	102477377	102477377	G	T	MMP20	c.842C>A	NM_004771.4	NP_004762.2:p.(Thr281Asn)	NC_000011.9:g.102477377G>T	(Likely) benign	1 lab	35d4d892c3
4:169589454 PALLD G>A	4	169589454	169589454	G	A	PALLD	c.1022G>A	NM_016081.4	NP_057165.3:p.(Arg341His)	NC_000004.11:g.169589454G>A	VUS	1 lab	35d91fcc72
6:112499372 LAMA4 G>A	6	112499372	112499372	G	A	LAMA4	c.1140C>T	NM_001105206.3	NP_001098676.2:p.(His380=)	NC_000006.11:g.112499372G>A	(Likely) benign	1 lab	35e0b5edf7
6:56507564 DST TA>T	6	56507564	56507566	TA	T	DST	c.22del	NM_015548.5	NP_056363.2:p.(Tyr8ThrfsTer33)	NC_000006.11:g.56507566del	(Likely) pathogenic	1 lab	35ead21846
10:75530798 SEC24C C>T	10	75530798	75530798	C	T	SEC24C	c.3230C>T	NM_004922.4	NP_004913.2:p.(Ser1077Phe)	NC_000010.10:g.75530798C>T	VUS	1 lab	35f078cfa5
10:89125558 NUTM2D CCCAGGTACCCCAGGGGCAGGAGGGACCTGGCACA>C	10	89125558	89125593	CCCAGGTACCCCAGGGGCAGGAGGGACCTGGCACA	C	NUTM2D	c.1633_1635+31del	NM_001009610.2	NP_001009610.1:p.?	NC_000010.10:g.89125560_89125593del	VUS	1 lab	35f19a0d63
17:48701371 CACNA1G G>A	17	48701371	48701371	G	A	CACNA1G	c.6164G>A	NM_018896.5	NP_061496.2:p.(Arg2055Gln)	NC_000017.10:g.48701371G>A	(Likely) benign	1 lab	360ada3ffd
19:46278281 DMPK C>T	19	46278281	46278281	C	T	DMPK	c.1188G>A	NM_001081563.2	NP_001075032.1:p.(Ser396=)	NC_000019.9:g.46278281C>T	(Likely) benign	1 lab	35f4b00735
4:190882971 FRG1 T>C	4	190882971	190882971	T	C	FRG1	c.630-6T>C	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190882971T>C	(Likely) benign	1 lab	35f8e4e999
18:21333720 LAMA3 G>A	18	21333720	21333720	G	A	LAMA3	c.891G>A	NM_198129.4	NP_937762.2:p.(Gly297=)	NC_000018.9:g.21333720G>A	(Likely) benign	1 lab	35f905effe
2:37268427 HEATR5B G>A	2	37268427	37268427	G	A	HEATR5B	c.2705C>T	NM_019024.3	NP_061897.1:p.(Ser902Leu)	NC_000002.11:g.37268427G>A	VUS	1 lab	35f93da656
6:29912108 HLA-A G>C	6	29912108	29912108	G	C	HLA-A	c.829G>C	NM_002116.8	NP_002107.3:p.(Glu277Gln)	NC_000006.11:g.29912108G>C	(Likely) benign	1 lab	35fbea3c7d
12:58176614 TSFM T>C	12	58176614	58176614	T	C	TSFM	c.30T>C	NM_001172696.2	NP_001166167.1:p.(Phe10=)	NC_000012.11:g.58176614T>C	(Likely) benign	1 lab	36032410b3
11:26655819 ANO3 A>G	11	26655819	26655819	A	G	ANO3	c.2125A>G	NM_001313726.2	NP_001300655.1:p.(Asn709Asp)	NC_000011.9:g.26655819A>G	VUS	1 lab	36034d68d8
1:240492659 FMN2 TA>T	1	240492659	240492661	TA	T	FMN2	c.4342del	NM_001305424.2	NP_001292353.1:p.(Ile1448SerfsTer38)	NC_000001.10:g.240492661del	(Likely) pathogenic	1 lab	360378df9b
12:7052998 RNU7-1 G>A	12	7052998	7052998	G	A	RNU7-1	n.20G>A	NR_023317.1		NC_000012.11:g.7052998G>A	VUS	1 lab	360a83c5ba
2:179312283 PRKRA T>C	2	179312283	179312283	T	C	PRKRA	c.266A>G	NM_003690.5	NP_003681.1:p.(His89Arg)	NC_000002.11:g.179312283T>C	VUS	1 lab	360c82b921
10:73538009 CDH23 G>A	10	73538009	73538009	G	A	CDH23	c.5131G>A	NM_022124.6	NP_071407.4:p.(Val1711Ile)	NC_000010.10:g.73538009G>A	VUS	1 lab	360c9f0277
22:51020668 CHKB C>A	22	51020668	51020668	C	A	CHKB	c.333+10G>T	NM_005198.5	NP_005189.2:p.?	NC_000022.10:g.51020668C>A	(Likely) benign	1 lab	360e7ea7ce
11:57573468 CTNND1 C>T	11	57573468	57573468	C	T	CTNND1	c.1837C>T	NM_001085458.2	NP_001078927.1:p.(Pro613Ser)	NC_000011.9:g.57573468C>T	(Likely) benign	1 lab	36132ee117
18:6980523 LAMA1 T>C	18	6980523	6980523	T	C	LAMA1	c.6004A>G	NM_005559.4	NP_005550.2:p.(Lys2002Glu)	NC_000018.9:g.6980523T>C	(Likely) benign	1 lab	3613c078c9
2:21226170 APOB C>G	2	21226170	21226170	C	G	APOB	c.12124G>C	NM_000384.3	NP_000375.3:p.(Glu4042Gln)	NC_000002.11:g.21226170C>G	VUS	1 lab	3613fa94f8
2:183867698 NCKAP1 T>A	2	183867698	183867698	T	A	NCKAP1	c.387+4A>T	NM_205842.3	NP_995314.1:p.?	NC_000002.11:g.183867698T>A	VUS	1 lab	3614adaa43
2:179442732 TTN A>G	2	179442732	179442732	A	G	TTN	c.68510T>C	NM_001267550.2	NP_001254479.2:p.(Val22837Ala)	NC_000002.11:g.179442732A>G	VUS	1 lab	3619ee420e
11:2604774 KCNQ1 C>T	11	2604774	2604774	C	T	KCNQ1	c.1031C>T	NM_000218.3	NP_000209.2:p.(Ala344Val)	NC_000011.9:g.2604774C>T	(Likely) pathogenic	1 lab	361d702779
1:237660057 RYR2 G>A	1	237660057	237660057	G	A	RYR2	c.2203+5G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237660057G>A	(Likely) benign	1 lab	361db3bc34
19:1619409 TCF3 G>A	19	1619409	1619409	G	A	TCF3	c.1232C>T	NM_003200.5	NP_003191.1:p.(Thr411Ile)	NC_000019.9:g.1619409G>A	VUS	1 lab	361e91d0d3
15:72103900 NR2E3 G>A	15	72103900	72103900	G	A	NR2E3	c.196G>A	NM_014249.4	NP_055064.1:p.(Gly66Ser)	NC_000015.9:g.72103900G>A	VUS	1 lab	36e3095784
9:5055741 JAK2 A>G	9	5055741	5055741	A	G	JAK2	c.1009A>G	NM_004972.4	NP_004963.1:p.(Asn337Asp)	NC_000009.11:g.5055741A>G	(Likely) benign	1 lab	3626f43001
2:179527501 TTN C>T	2	179527501	179527501	C	T	TTN	c.36829G>A	NM_001267550.2	NP_001254479.2:p.(Ala12277Thr)	NC_000002.11:g.179527501C>T	VUS	1 lab	36287c3475
6:56504791 DST T>C	6	56504791	56504791	T	C	DST	c.2456A>G	NM_001144769.5	NP_001138241.1:p.(His819Arg)	NC_000006.11:g.56504791T>C	VUS	1 lab	3629505097
3:25650815 TOP2B G>A	3	25650815	25650815	G	A	TOP2B	c.3937C>T	NM_001068.3	NP_001059.2:p.(Pro1313Ser)	NC_000003.11:g.25650815G>A	VUS	1 lab	362f7cf37d
2:206994809 NDUFS1 T>TA	2	206994809	206994810	T	TA	NDUFS1	c.1708+2dup	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.206994810dup	VUS	1 lab	3630f5799e
2:179432888 TTN G>C	2	179432888	179432888	G	C	TTN	c.77971C>G	NM_001267550.2	NP_001254479.2:p.(Pro25991Ala)	NC_000002.11:g.179432888G>C	VUS	1 lab	363994307b
2:166850674 SCN1A C>T	2	166850674	166850674	C	T	SCN1A	c.4834G>A	NM_001165963.4	NP_001159435.1:p.(Val1612Ile)	NC_000002.11:g.166850674C>T	VUS	1 lab	363b378229
14:91780031 CCDC88C C>T	14	91780031	91780031	C	T	CCDC88C	c.2129G>A	NM_001080414.4	NP_001073883.2:p.(Arg710His)	NC_000014.8:g.91780031C>T	VUS	1 lab	3641911ae2
3:58117711 FLNB T>C	3	58117711	58117711	T	C	FLNB	c.4391-824T>C	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58117711T>C	(Likely) benign	1 lab	3642690a69
6:80631379 ELOVL4 C>G	6	80631379	80631379	C	G	ELOVL4	c.504G>C	NM_022726.4	NP_073563.1:p.(Leu168Phe)	NC_000006.11:g.80631379C>G	(Likely) pathogenic	1 lab	364740b203
2:179444054 TTN A>G	2	179444054	179444054	A	G	TTN	c.59999T>C	NM_133378.4	NP_596869.4:p.(Phe20000Ser)	NC_000002.11:g.179444054A>G	VUS	1 lab	3649b83cab
16:17564554 XYLT1 TCC>T	16	17564554	17564556	TCC	T	XYLT1	c.98_99del	NM_022166.4	NP_071449.1:p.(Trp33Ter)	NC_000016.9:g.17564555_17564556del	(Likely) pathogenic	1 lab	364f799845
2:88887591 EIF2AK3 TC>T	2	88887591	88887593	TC	T	EIF2AK3	c.1337del	NM_004836.7	NP_004827.4:p.(Gly446AspfsTer80)	NC_000002.11:g.88887593del	(Likely) pathogenic	1 lab	364fb88594
12:49442875 KMT2D G>C	12	49442875	49442875	G	C	KMT2D	c.4020+13C>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49442875G>C	(Likely) benign	1 lab	3651f78424
5:80088663 MSH3 A>G	5	80088663	80088663	A	G	MSH3	c.2655A>G	NM_002439.5	NP_002430.3:p.(Ser885=)	NC_000005.9:g.80088663A>G	(Likely) benign	1 lab	36535253f2
2:189944702 COL5A2 A>G	2	189944702	189944702	A	G	COL5A2	c.960+2T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189944702A>G	(Likely) pathogenic	1 lab	36535f5e97
1:237538098 RYR2 A>G	1	237538098	237538098	A	G	RYR2	c.463+3A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237538098A>G	(Likely) benign	1 lab	3655d3089f
16:3714438 DNASE1 C>T	16	3714438	3714438	C	T	DNASE1	c.*1813C>T	NM_001387140.1	NP_001374069.1:p.?	NC_000016.9:g.3714438C>T	(Likely) benign	1 lab	365953bc8d
10:1126352 WDR37 C>G	10	1126352	1126352	C	G	WDR37	c.332C>G	NM_014023.4	NP_054742.2:p.(Ala111Gly)	NC_000010.10:g.1126352C>G	VUS	1 lab	36e36163f7
X:49106142 CCDC22 G>A	X	49106142	49106142	G	A	CCDC22	c.1726G>A	NM_014008.5	NP_054727.1:p.(Asp576Asn)	NC_000023.10:g.49106142G>A	(Likely) benign	1 lab	365d7aeaad
19:38990451 RYR1 C>T	19	38990451	38990451	C	T	RYR1	c.7204C>T	NM_000540.3	NP_000531.2:p.(Arg2402Trp)	NC_000019.9:g.38990451C>T	VUS	1 lab	365ebdd15f
17:29576102 NF1 C>A	17	29576102	29576102	C	A	NF1	c.4075C>A	NM_000267.3	NP_000258.1:p.(Pro1359Thr)	NC_000017.10:g.29576102C>A	VUS	1 lab	3660065177
7:37907304 NME8 T>C	7	37907304	37907304	T	C	NME8	c.622T>C	NM_016616.5	NP_057700.3:p.(Cys208Arg)	NC_000007.13:g.37907304T>C	(Likely) benign	1 lab	366042cd94
2:230636242 TRIP12 G>A	2	230636242	230636242	G	A	TRIP12	c.5801C>T	NM_001348322.1	NP_001335251.1:p.(Pro1934Leu)	NC_000002.11:g.230636242G>A	VUS	1 lab	366190d700
3:167507023 SERPINI1 G>A	3	167507023	167507023	G	A	SERPINI1	c.107G>A	NM_005025.5	NP_005016.1:p.(Arg36His)	NC_000003.11:g.167507023G>A	VUS	1 lab	36621d2340
5:176637776 NSD1 C>T	5	176637776	176637776	C	T	NSD1	c.2376C>T	NM_022455.5	NP_071900.2:p.(Cys792=)	NC_000005.9:g.176637776C>T	(Likely) benign	1 lab	36669c06a9
16:51174898 SALL1 G>A	16	51174898	51174898	G	A	SALL1	c.944C>T	NM_001127892.2	NP_001121364.1:p.(Thr315Ile)	NC_000016.9:g.51174898G>A	VUS	1 lab	3669c3681f
2:179570002 TTN A>G	2	179570002	179570002	A	G	TTN	c.29503T>C	NM_001267550.2	NP_001254479.2:p.(Tyr9835His)	NC_000002.11:g.179570002A>G	VUS	1 lab	366fb4c6e5
15:89826496 FANCI C>T	15	89826496	89826496	C	T	FANCI	c.1698+15C>T	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89826496C>T	(Likely) benign	1 lab	3671551322
2:11348524 ROCK2 C>G	2	11348524	11348524	C	G	ROCK2	c.2253G>C	NM_004850.5	NP_004841.2:p.(Glu751Asp)	NC_000002.11:g.11348524C>G	VUS	1 lab	367199b64d
X:128615113 SMARCA1 T>C	X	128615113	128615113	T	C	SMARCA1	c.2267A>G	NM_003069.5	NP_003060.2:p.(Asn756Ser)	NC_000023.10:g.128615113T>C	VUS	1 lab	3672e00227
7:82583737 PCLO G>C	7	82583737	82583737	G	C	PCLO	c.6532C>G	NM_033026.6	NP_149015.2:p.(Pro2178Ala)	NC_000007.13:g.82583737G>C	VUS	1 lab	36805b65f2
5:13807773 DNAH5 G>T	5	13807773	13807773	G	T	DNAH5	c.7814C>A	NM_001369.3	NP_001360.1:p.(Ser2605Ter)	NC_000005.9:g.13807773G>T	(Likely) pathogenic	1 lab	368264aed0
22:36701152 MYH9 A>G	22	36701152	36701152	A	G	MYH9	c.2160-4T>C	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36701152A>G	(Likely) benign	1 lab	3683c652cd
19:50826805 KCNC3 C>T	19	50826805	50826805	C	T	KCNC3	c.1405G>A	NM_004977.3	NP_004968.2:p.(Ala469Thr)	NC_000019.9:g.50826805C>T	VUS	1 lab	36859ed61f
10:88476248 LDB3 G>A	10	88476248	88476248	G	A	LDB3	c.1411G>A	NM_001171610.2	NP_001165081.1:p.(Ala471Thr)	NC_000010.10:g.88476248G>A	VUS	1 lab	368786b592
X:153219844 HCFC1 C>T	X	153219844	153219844	C	T	HCFC1	c.4006G>A	NM_005334.3	NP_005325.2:p.(Ala1336Thr)	NC_000023.10:g.153219844C>T	VUS	1 lab	368a787907
11:6662564 DCHS1 A>G	11	6662564	6662564	A	G	DCHS1	c.281T>C	NM_003737.4	NP_003728.1:p.(Ile94Thr)	NC_000011.9:g.6662564A>G	(Likely) pathogenic	1 lab	368bbb7369
17:67111550 ABCA6 T>A	17	67111550	67111550	T	A	ABCA6	c.1573A>T	NM_080284.3	NP_525023.2:p.(Asn525Tyr)	NC_000017.10:g.67111550T>A	VUS	1 lab	3694e077e3
14:23868241 MYH6 C>T	14	23868241	23868241	C	T	MYH6	c.1587G>A	NM_002471.4	NP_002462.2:p.(Met529Ile)	NC_000014.8:g.23868241C>T	VUS	1 lab	36962474e5
3:184070291 CLCN2 T>C	3	184070291	184070291	T	C	CLCN2	c.2218-7A>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070291T>C	VUS	1 lab	3697b0ac4c
19:36574147 WDR62 A>G	19	36574147	36574147	A	G	WDR62	c.1550+4A>G	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36574147A>G	(Likely) pathogenic	1 lab	369a755882
2:179400124 TTN C>T	2	179400124	179400124	C	T	TTN	c.101218G>A	NM_001267550.2	NP_001254479.2:p.(Gly33740Arg)	NC_000002.11:g.179400124C>T	VUS	1 lab	369cef3dda
3:119118104 ARHGAP31 A>G	3	119118104	119118104	A	G	ARHGAP31	c.1065=	NM_020754.4	NP_065805.2:p.(Val355=)	NC_000003.11:g.119118104A>G	(Likely) benign	1 lab	36a668172e
X:153697250 PLXNA3 G>A	X	153697250	153697250	G	A	PLXNA3	c.4372G>A	NM_017514.5	NP_059984.3:p.(Glu1458Lys)	NC_000023.10:g.153697250G>A	VUS	1 lab	36a789fa76
7:128843374 SMO C>T	7	128843374	128843374	C	T	SMO	c.481C>T	NM_005631.5	NP_005622.1:p.(Arg161Trp)	NC_000007.13:g.128843374C>T	VUS	1 lab	36a845f990
1:22163475 HSPG2 G>A	1	22163475	22163475	G	A	HSPG2	c.10178C>T	NM_001291860.2	NP_001278789.1:p.(Thr3393Ile)	NC_000001.10:g.22163475G>A	VUS	1 lab	36aa692bae
1:11854410 MTHFR C>T	1	11854410	11854410	C	T	MTHFR	c.1470+5G>A	NM_001330358.2	NP_001317287.1:p.?	NC_000001.10:g.11854410C>T	VUS	1 lab	36ac40547a
17:29677260 NF1 C>T	17	29677260	29677260	C	T	NF1	c.7318C>T	NM_000267.3	NP_000258.1:p.(Leu2440Phe)	NC_000017.10:g.29677260C>T	VUS	1 lab	36c143416c
3:48628154 COL7A1 G>A	3	48628154	48628154	G	A	COL7A1	c.1732C>T	NM_000094.4	NP_000085.1:p.(Arg578Ter)	NC_000003.11:g.48628154G>A	(Likely) pathogenic	1 lab	36c567f203
17:3427517 TRPV3 C>T	17	3427517	3427517	C	T	TRPV3	c.1718G>A	NM_145068.4	NP_659505.1:p.(Gly573Asp)	NC_000017.10:g.3427517C>T	(Likely) pathogenic	1 lab	36c868deb9
2:179431175 TTN G>A	2	179431175	179431175	G	A	TTN	c.79684C>T	NM_001267550.2	NP_001254479.2:p.(Arg26562Ter)	NC_000002.11:g.179431175G>A	(Likely) pathogenic	1 lab	36ca8fa499
6:32809427 PSMB8 T>C	6	32809427	32809427	T	C	PSMB8	c.623A>G	NM_148919.4	NP_683720.2:p.(Tyr208Cys)	NC_000006.11:g.32809427T>C	VUS	1 lab	36d8c11d55
17:48263021 COL1A1 C>T	17	48263021	48263021	C	T	COL1A1	c.4249-12G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48263021C>T	(Likely) benign	1 lab	36da4abacc
22:19754211 TBX1 C>T	22	19754211	19754211	C	T	TBX1	c.1309C>T	NM_080647.1	NP_542378.1:p.(Pro437Ser)	NC_000022.10:g.19754211C>T	VUS	1 lab	36dd114cd8
11:4108010 STIM1 ATTTC>A	11	4108010	4108014	ATTTC	A	STIM1	c.1541+238_1541+241del	NM_003156.4	NP_003147.2:p.?	NC_000011.9:g.4108011_4108014del	(Likely) pathogenic	1 lab	36e4b71783
X:79282245 TBX22 G>A	X	79282245	79282245	G	A	TBX22	c.676G>A	NM_001109878.2	NP_001103348.1:p.(Val226Met)	NC_000023.10:g.79282245G>A	VUS	1 lab	36e9f0ec33
4:1980558 NSD2 GC>G	4	1980558	1980566	GC	G	NSD2	c.4028del	NM_133330.3	NP_579877.1:p.(Pro1343GlnfsTer49)	NC_000004.11:g.1980566del	(Likely) pathogenic	1 lab	36f1d46776
1:6171914 CHD5 G>A	1	6171914	6171914	G	A	CHD5	c.5170C>T	NM_015557.3	NP_056372.1:p.(Arg1724Trp)	NC_000001.10:g.6171914G>A	(Likely) benign	1 lab	36f461713a
2:88926730 EIF2AK3 CAG>C	2	88926730	88926732	CAG	C	EIF2AK3	c.61_62del	NM_004836.7	NP_004827.4:p.(Leu21GlyfsTer55)	NC_000002.11:g.88926731_88926732del	(Likely) benign	1 lab	36f7f4e4a9
1:155874287 RIT1 A>C	1	155874287	155874287	A	C	RIT1	c.244T>G	NM_006912.6	NP_008843.1:p.(Phe82Val)	NC_000001.10:g.155874287A>C	(Likely) pathogenic	1 lab	36f938d3b1
15:93552503 CHD2 C>T	15	93552503	93552503	C	T	CHD2	c.4542C>T	NM_001271.4	NP_001262.3:p.(Ala1514=)	NC_000015.9:g.93552503C>T	(Likely) benign	1 lab	36facefcaf
1:24669225 GRHL3 C>A	1	24669225	24669225	C	A	GRHL3	c.1248C>A	NM_198174.3	NP_937817.3:p.(Phe416Leu)	NC_000001.10:g.24669225C>A	VUS	1 lab	36fc5ce425
20:60712511 PSMA7 A>G	20	60712511	60712511	A	G	PSMA7	c.592-29T>C	NM_002792.4	NP_002783.1:p.?	NC_000020.10:g.60712511A>G	(Likely) benign	1 lab	36fe242572
20:10630213 JAG1 G>GT	20	10630213	10630214	G	GT	JAG1	c.1304dup	NM_000214.3	NP_000205.1:p.(Tyr435Ter)	NC_000020.10:g.10630214dup	(Likely) pathogenic	1 lab	3701e33157
16:2139748 PKD1 C>A	16	2139748	2139748	C	A	PKD1	c.12892G>T	NM_001009944.3	NP_001009944.3:p.(Val4298Phe)	NC_000016.9:g.2139748C>A	VUS	1 lab	37048f45a1
16:78777354 WWOX T>G	16	78777354	78777354	T	G	WWOX	c.1056+310705T>G	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78777354T>G	VUS	1 lab	37074991d4
22:42608032 TCF20 G>C	22	42608032	42608032	G	C	TCF20	c.3280C>G	NM_005650.4	NP_005641.1:p.(Pro1094Ala)	NC_000022.10:g.42608032G>C	VUS	1 lab	370b897d87
18:6985631 LAMA1 C>T	18	6985631	6985631	C	T	LAMA1	c.5391G>A	NM_005559.4	NP_005550.2:p.(Leu1797=)	NC_000018.9:g.6985631C>T	(Likely) benign	1 lab	370d2fc852
20:61991055 CHRNA4 C>T	20	61991055	61991055	C	T	CHRNA4	c.77-4G>A	NM_000744.7	NP_000735.1:p.?	NC_000020.10:g.61991055C>T	(Likely) benign	1 lab	371653772a
22:37627385 RAC2 G>A	22	37627385	37627385	G	A	RAC2	c.334C>T	NM_002872.5	NP_002863.1:p.(Leu112=)	NC_000022.10:g.37627385G>A	(Likely) benign	1 lab	371914b882
4:187542431 FAT1 T>C	4	187542431	187542431	T	C	FAT1	c.5309A>G	NM_005245.4	NP_005236.2:p.(Tyr1770Cys)	NC_000004.11:g.187542431T>C	VUS	1 lab	3719720bb2
5:112102093 APC TA>T	5	112102093	112102094	TA	T	APC	c.207del	NM_000038.6	NP_000029.2:p.(Glu70SerfsTer8)	NC_000005.9:g.112102094del	(Likely) pathogenic	1 lab	37206e5133
11:108129762 ATM C>T	11	108129762	108129762	C	T	ATM	c.2426C>T	NM_000051.4	NP_000042.3:p.(Ser809Leu)	NC_000011.9:g.108129762C>T	VUS	1 lab	3724fe145a
17:33444058 RAD51D T>G	17	33444058	33444058	T	G	RAD51D	c.263+1462A>C	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33444058T>G	VUS	1 lab	3727c7b38c
6:132201109 ENPP1 T>C	6	132201109	132201109	T	C	ENPP1	c.2035T>C	NM_006208.3	NP_006199.2:p.(Phe679Leu)	NC_000006.11:g.132201109T>C	VUS	1 lab	372ddc1c74
17:42426540 GRN C>A	17	42426540	42426540	C	A	GRN	c.8C>A	NM_002087.4	NP_002078.1:p.(Thr3Asn)	NC_000017.10:g.42426540C>A	VUS	1 lab	372ea0ae75
16:15808876 NDE1 C>G	16	15808876	15808876	C	G	NDE1	c.948-9172C>G	NM_001143979.2	NP_001137451.1:p.?	NC_000016.9:g.15808876C>G	(Likely) benign	1 lab	372fbf4068
2:179400106 TTN G>C	2	179400106	179400106	G	C	TTN	c.101236C>G	NM_001267550.2	NP_001254479.2:p.(Arg33746Gly)	NC_000002.11:g.179400106G>C	VUS	1 lab	373396b1c4
8:121243765 COL14A1 G>A	8	121243765	121243765	G	A	COL14A1	c.2257G>A	NM_021110.4	NP_066933.1:p.(Val753Ile)	NC_000008.10:g.121243765G>A	VUS	1 lab	37438915e1
5:125929000 ALDH7A1 AACACAC>A	5	125929000	125929036	AACACAC	A	ALDH7A1	c.246+37_246+42del	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929031_125929036del	(Likely) benign	1 lab	37459012b1
18:21115075 NPC1 C>G	18	21115075	21115075	C	G	NPC1	c.3477+358G>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21115075C>G	VUS	1 lab	3746e2fa0b
5:7885782 MTRR A>ATT	5	7885782	7885794	A	ATT	MTRR	c.904-21_904-20dup	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7885793_7885794dup	(Likely) benign	1 lab	374892cca8
X:69717030 DLG3 A>G	X	69717030	69717030	A	G	DLG3	c.863A>G	NM_020730.3	NP_065781.1:p.(Gln288Arg)	NC_000023.10:g.69717030A>G	VUS	1 lab	37494f4b32
15:57953711 MYZAP A>T	15	57953711	57953711	A	T	MYZAP	c.1183A>T	NM_001018100.5	NP_001018110.1:p.(Ile395Leu)	NC_000015.9:g.57953711A>T	VUS	1 lab	374993e5c6
X:70598123 TAF1 A>G	X	70598123	70598123	A	G	TAF1	c.972A>G	NM_004606.5	NP_004597.3:p.(Gln324=)	NC_000023.10:g.70598123A>G	(Likely) benign	1 lab	374e163564
10:43601964 RET C>T	10	43601964	43601964	C	T	RET	c.1008C>T	NM_020975.6	NP_066124.1:p.(Asn336=)	NC_000010.10:g.43601964C>T	(Likely) benign	1 lab	375193a991
4:187517795 FAT1 G>A	4	187517795	187517795	G	A	FAT1	c.12899C>T	NM_005245.4	NP_005236.2:p.(Ala4300Val)	NC_000004.11:g.187517795G>A	VUS	1 lab	3752773b6a
17:3458036 TRPV3 T>G	17	3458036	3458036	T	G	TRPV3	c.109A>C	NM_001258205.2	NP_001245134.1:p.(Thr37Pro)	NC_000017.10:g.3458036T>G	VUS	1 lab	3753f63a8d
15:23932078 NDN G>A	15	23932078	23932078	G	A	NDN	c.287C>T	NM_002487.3	NP_002478.1:p.(Ala96Val)	NC_000015.9:g.23932078G>A	VUS	1 lab	3755271190
14:75367800 DLST T>C	14	75367800	75367800	T	C	DLST	c.1091T>C	NM_001933.5	NP_001924.2:p.(Met364Thr)	NC_000014.8:g.75367800T>C	VUS	1 lab	375635b97f
22:41911876 ACO2 A>G	22	41911876	41911876	A	G	ACO2	c.790A>G	NM_001098.3	NP_001089.1:p.(Ile264Val)	NC_000022.10:g.41911876A>G	VUS	1 lab	37576282bb
17:17700853 RAI1 T>C	17	17700853	17700853	T	C	RAI1	c.4591T>C	NM_030665.4	NP_109590.3:p.(Tyr1531His)	NC_000017.10:g.17700853T>C	VUS	1 lab	375a0e2a31
16:29842323 MVP C>T	16	29842323	29842323	C	T	MVP	c.250C>T	NM_017458.3	NP_059447.2:p.(Arg84Cys)	NC_000016.9:g.29842323C>T	VUS	1 lab	375a837478
11:118344948 KMT2A G>A	11	118344948	118344948	G	A	KMT2A	c.3074G>A	NM_001197104.2	NP_001184033.1:p.(Ser1025Asn)	NC_000011.9:g.118344948G>A	VUS	1 lab	3760c86fd8
20:10620243 JAG1 T>C	20	10620243	10620243	T	C	JAG1	c.3560A>G	NM_000214.3	NP_000205.1:p.(Asn1187Ser)	NC_000020.10:g.10620243T>C	(Likely) benign	1 lab	37623fc3a5
20:44645010 MMP9 C>T	20	44645010	44645010	C	T	MMP9	c.*3C>T	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44645010C>T	(Likely) benign	1 lab	37632bf4da
3:24536623 THRB C>T	3	24536623	24536623	C	T	THRB	c.-115+1G>A	NM_001354708.2	NP_001341637.1:p.?	NC_000003.11:g.24536623C>T	VUS	1 lab	3767d2a175
X:106116887 TBC1D8B G>T	X	106116887	106116887	G	T	TBC1D8B	c.3055G>T	NM_017752.3	NP_060222.2:p.(Val1019Leu)	NC_000023.10:g.106116887G>T	VUS	1 lab	37688a881d
11:108141997 ATM C>T	11	108141997	108141997	C	T	ATM	c.2941C>T	NM_000051.4	NP_000042.3:p.(Arg981Cys)	NC_000011.9:g.108141997C>T	VUS	1 lab	3769d98efc
12:53777010 SP1 A>C	12	53777010	53777010	A	C	SP1	c.1279A>C	NM_138473.3	NP_612482.2:p.(Thr427Pro)	NC_000012.11:g.53777010A>C	VUS	1 lab	377c978ea6
5:37052624 NIPBL C>T	5	37052624	37052624	C	T	NIPBL	c.7219C>T	NM_015384.5	NP_056199.2:p.(Arg2407Ter)	NC_000005.9:g.37052624C>T	(Likely) pathogenic	1 lab	377da4b085
5:127419931 SLC12A2 TGCGGCGGCG>T	5	127419931	127419954	TGCGGCGGCG	T	SLC12A2	c.300_308del	NM_001046.3	NP_001037.1:p.(Ala105_Ala107del)	NC_000005.9:g.127419946_127419954del	VUS	1 lab	377f785fed
7:141957504 PRSS58 A>G	7	141957504	141957504	A	G	PRSS58	c.24T>C	NM_001001317.5	NP_001001317.1:p.(Ala8=)	NC_000007.13:g.141957504A>G	(Likely) benign	1 lab	378cdfbfc9
X:153227685 HCFC1 G>A	X	153227685	153227685	G	A	HCFC1	c.785C>T	NM_005334.3	NP_005325.2:p.(Thr262Ile)	NC_000023.10:g.153227685G>A	VUS	1 lab	379024756b
14:23884416 MYH7 TC>T	14	23884416	23884417	TC	T	MYH7	c.5346del	NM_000257.4	NP_000248.2:p.(Met1782IlefsTer56)	NC_000014.8:g.23884417del	VUS	1 lab	37905a1ff2
5:58481040 PDE4D T>C	5	58481040	58481040	T	C	PDE4D	c.733A>G	NM_001104631.2	NP_001098101.1:p.(Asn245Asp)	NC_000005.9:g.58481040T>C	VUS	1 lab	3790eb9e4e
8:144990794 PLEC C>T	8	144990794	144990794	C	T	PLEC	c.13276G>A	NM_000445.5	NP_000436.2:p.(Glu4426Lys)	NC_000008.10:g.144990794C>T	VUS	1 lab	379769d6e5
4:80977078 ANTXR2 T>G	4	80977078	80977078	T	G	ANTXR2	c.378+8A>C	NM_058172.6	NP_477520.2:p.?	NC_000004.11:g.80977078T>G	(Likely) benign	1 lab	379df95563
7:128486106 FLNC G>A	7	128486106	128486106	G	A	FLNC	c.3853G>A	NM_001458.5	NP_001449.3:p.(Gly1285Ser)	NC_000007.13:g.128486106G>A	VUS	1 lab	37ad73934a
7:87031444 ABCB4 C>A	7	87031444	87031444	C	A	ABCB4	c.3829G>T	NM_018849.3	NP_061337.1:p.(Val1277Phe)	NC_000007.13:g.87031444C>A	VUS	1 lab	37afbfc92a
16:51175657 SALL1 CT>C	16	51175657	51175658	CT	C	SALL1	c.475del	NM_002968.3	NP_002959.2:p.(Ser159AlafsTer24)	NC_000016.9:g.51175658del	(Likely) benign	1 lab	37afd7634c
16:5123270 ALG1 C>T	16	5123270	5123270	C	T	ALG1	c.390+13C>T	NM_019109.5	NP_061982.3:p.?	NC_000016.9:g.5123270C>T	(Likely) benign	1 lab	37b1af6f4b
1:228346597 GJC2 G>T	1	228346597	228346597	G	T	GJC2	c.1138G>T	NM_020435.4	NP_065168.2:p.(Ala380Ser)	NC_000001.10:g.228346597G>T	VUS	1 lab	37b1f37fe8
3:49455331 AMT C>T	3	49455331	49455331	C	T	AMT	c.953G>A	NM_000481.4	NP_000472.2:p.(Arg318Gln)	NC_000003.11:g.49455331C>T	(Likely) benign	1 lab	37b43601b8
1:74954882 TNNI3K G>A	1	74954882	74954882	G	A	TNNI3K	c.2131G>A	NM_015978.3	NP_057062.1:p.(Glu711Lys)	NC_000001.10:g.74954882G>A	VUS	1 lab	37b77465d8
10:16967401 CUBN C>T	10	16967401	16967401	C	T	CUBN	c.6485G>A	NM_001081.4	NP_001072.2:p.(Cys2162Tyr)	NC_000010.10:g.16967401C>T	(Likely) benign	1 lab	37b94ea44c
2:179480389 TTN C>G	2	179480389	179480389	C	G	TTN	c.48439G>C	NM_001267550.2	NP_001254479.2:p.(Val16147Leu)	NC_000002.11:g.179480389C>G	VUS	1 lab	37bfbd48e9
1:3334521 PRDM16 G>A	1	3334521	3334521	G	A	PRDM16	c.2821G>A	NM_022114.4	NP_071397.3:p.(Asp941Asn)	NC_000001.10:g.3334521G>A	VUS	1 lab	37c174f236
8:22864588 RHOBTB2 G>A	8	22864588	22864588	G	A	RHOBTB2	c.896G>A	NM_001160036.2	NP_001153508.1:p.(Arg299His)	NC_000008.10:g.22864588G>A	(Likely) benign	1 lab	37c61627a4
12:80613592 OTOGL A>G	12	80613592	80613592	A	G	OTOGL	c.236-2A>G	NM_173591.7	NP_775862.4:p.?	NC_000012.11:g.80613592A>G	(Likely) pathogenic	1 lab	37dbd4cc36
1:228346715 GJC2 C>T	1	228346715	228346715	C	T	GJC2	c.1256C>T	NM_020435.4	NP_065168.2:p.(Pro419Leu)	NC_000001.10:g.228346715C>T	VUS	1 lab	37df379738
1:120539837 NOTCH2 T>C	1	120539837	120539837	T	C	NOTCH2	c.534A>G	NM_024408.4	NP_077719.2:p.(Lys178=)	NC_000001.10:g.120539837T>C	(Likely) benign	1 lab	37e28cbbb5
13:32931965 BRCA2 TG>T	13	32931965	32931967	TG	T	BRCA2	c.7706del	NM_000059.4	NP_000050.3:p.(Gly2569ValfsTer79)	NC_000013.10:g.32931967del	(Likely) pathogenic	1 lab	37e4d55776
2:8871610 KIDINS220 A>G	2	8871610	8871610	A	G	KIDINS220	c.4556T>C	NM_020738.4	NP_065789.1:p.(Leu1519Pro)	NC_000002.11:g.8871610A>G	VUS	1 lab	37f48fd572
10:21112137 NEBL A>T	10	21112137	21112137	A	T	NEBL	c.1962T>A	NM_006393.3	NP_006384.1:p.(Asn654Lys)	NC_000010.10:g.21112137A>T	(Likely) benign	1 lab	37f6df325f
2:179409084 TTN G>A	2	179409084	179409084	G	A	TTN	c.95872C>T	NM_001267550.2	NP_001254479.2:p.(Arg31958Ter)	NC_000002.11:g.179409084G>A	(Likely) pathogenic	1 lab	37fb4b3c57
20:56137834 PCK1 A>G	20	56137834	56137834	A	G	PCK1	c.489A>G	NM_002591.4	NP_002582.3:p.(Ser163=)	NC_000020.10:g.56137834A>G	(Likely) benign	1 lab	37fd6b60b6
3:14487265 SLC6A6 C>T	3	14487265	14487265	C	T	SLC6A6	c.573C>T	NM_001134367.3	NP_001127839.2:p.(Ser191=)	NC_000003.11:g.14487265C>T	(Likely) benign	1 lab	37fdf2863a
8:23560414 NKX2-6 C>CT	8	23560414	23560416	C	CT	NKX2-6	c.455dup	NM_001136271.3	NP_001129743.2:p.(Gln153AlafsTer207)	NC_000008.10:g.23560416dup	(Likely) pathogenic	1 lab	380036be29
2:179589082 TTN A>G	2	179589082	179589082	A	G	TTN	c.21020T>C	NM_001267550.2	NP_001254479.2:p.(Ile7007Thr)	NC_000002.11:g.179589082A>G	VUS	1 lab	3800922cac
1:3328796 PRDM16 G>C	1	3328796	3328796	G	C	PRDM16	c.2035G>C	NM_022114.4	NP_071397.3:p.(Asp679His)	NC_000001.10:g.3328796G>C	VUS	1 lab	3801ed7040
16:3832832 CREBBP T>C	16	3832832	3832832	T	C	CREBBP	c.1426A>G	NM_004380.3	NP_004371.2:p.(Ile476Val)	NC_000016.9:g.3832832T>C	VUS	1 lab	38038e578f
10:112541484 RBM20 CAG>C	10	112541484	112541486	CAG	C	RBM20	c.1118_1119del	NM_001134363.3	NP_001127835.2:p.(Gln373ArgfsTer25)	NC_000010.10:g.112541485_112541486del	(Likely) pathogenic	1 lab	3807adf1ba
10:135106072 TUBGCP2 G>A	10	135106072	135106072	G	A	TUBGCP2	c.1229C>T	NM_001256617.2	NP_001243546.1:p.(Ala410Val)	NC_000010.10:g.135106072G>A	VUS	1 lab	3809e5a3c3
X:117744359 DOCK11 A>G	X	117744359	117744359	A	G	DOCK11	c.3074A>G	NM_144658.4	NP_653259.3:p.(Tyr1025Cys)	NC_000023.10:g.117744359A>G	VUS	1 lab	380c2d9ca9
16:67691449 CARMIL2 A>G	16	67691449	67691449	A	G	CARMIL2	c.*28A>G	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67691449A>G	VUS	1 lab	380e537b72
16:49672520 ZNF423 A>G	16	49672520	49672520	A	G	ZNF423	c.363T>C	NM_001271620.2	NP_001258549.1:p.(Arg121=)	NC_000016.9:g.49672520A>G	(Likely) benign	1 lab	3816406769
4:106196951 TET2 A>G	4	106196951	106196951	A	G	TET2	c.5284A>G	NM_001127208.3	NP_001120680.1:p.(Ile1762Val)	NC_000004.11:g.106196951A>G	(Likely) benign	1 lab	3818286427
2:73800080 ALMS1 TA>T	2	73800080	73800087	TA	T	ALMS1	c.11086del	NM_015120.4	NP_055935.4:p.(Ser3696AlafsTer27)	NC_000002.11:g.73800087del	(Likely) pathogenic	1 lab	381a944779
9:139399489 NOTCH1 C>T	9	139399489	139399489	C	T	NOTCH1	c.4654G>A	NM_017617.5	NP_060087.3:p.(Ala1552Thr)	NC_000009.11:g.139399489C>T	VUS	1 lab	38228a9300
7:128485241 FLNC G>A	7	128485241	128485241	G	A	FLNC	c.3722G>A	NM_001458.5	NP_001449.3:p.(Arg1241His)	NC_000007.13:g.128485241G>A	(Likely) benign	1 lab	38249490d6
3:158364573 GFM1 G>A	3	158364573	158364573	G	A	GFM1	c.409G>A	NM_024996.7	NP_079272.4:p.(Val137Met)	NC_000003.11:g.158364573G>A	(Likely) pathogenic	1 lab	3824f27174
1:201288955 PKP1 G>A	1	201288955	201288955	G	A	PKP1	c.1244G>A	NM_000299.4	NP_000290.2:p.(Gly415Asp)	NC_000001.10:g.201288955G>A	(Likely) benign	1 lab	3826cbe595
16:30999142 HSD3B7 A>G	16	30999142	30999142	A	G	HSD3B7	c.748A>G	NM_025193.4	NP_079469.2:p.(Thr250Ala)	NC_000016.9:g.30999142A>G	(Likely) benign	1 lab	382965db93
19:50412417 IL4I1 G>A	19	50412417	50412417	G	A	IL4I1	c.-285-4839C>T	NM_001258018.2	NP_001244947.1:p.?	NC_000019.9:g.50412417G>A	(Likely) benign	1 lab	382db540ee
12:3757703 CRACR2A C>T	12	3757703	3757703	C	T	CRACR2A	c.1118+5G>A	NM_001144958.2	NP_001138430.1:p.?	NC_000012.11:g.3757703C>T	VUS	1 lab	38321092cb
2:191766709 GLS C>T	2	191766709	191766709	C	T	GLS	c.772C>T	NM_014905.5	NP_055720.3:p.(Pro258Ser)	NC_000002.11:g.191766709C>T	VUS	1 lab	3833db3c08
X:44922763 KDM6A C>T	X	44922763	44922763	C	T	KDM6A	c.1624C>T	NM_021140.4	NP_066963.2:p.(Gln542Ter)	NC_000023.10:g.44922763C>T	(Likely) pathogenic	1 lab	38351ef0af
19:18896361 COMP T>G	19	18896361	18896361	T	G	COMP	c.1669-5A>C	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896361T>G	(Likely) benign	1 lab	38352a241b
1:240370953 FMN2 TCTACCCGGAGCGGCAATACCCCCTCCGCCCCC>T	1	240370953	240370985	TCTACCCGGAGCGGCAATACCCCCTCCGCCCCC	T	FMN2	c.2842_2873del	NM_020066.5	NP_064450.3:p.(Leu948SerfsTer294)	NC_000001.10:g.240370954_240370985del	VUS	1 lab	383575c7c0
X:76940443 ATRX T>C	X	76940443	76940443	T	C	ATRX	c.650A>G	NM_000489.6	NP_000480.3:p.(Asp217Gly)	NC_000023.10:g.76940443T>C	(Likely) pathogenic	1 lab	38369a7574
11:4567000 OR52M1 G>A	11	4567000	4567000	G	A	OR52M1	c.580G>A	NM_001004137.1	NP_001004137.1:p.(Asp194Asn)	NC_000011.9:g.4567000G>A	VUS	1 lab	383f47c25b
8:119964052 TNFRSF11B G>C	8	119964052	119964052	G	C	TNFRSF11B	c.9C>G	NM_002546.4	NP_002537.3:p.(Asn3Lys)	NC_000008.10:g.119964052G>C	(Likely) benign	1 lab	3840473c3c
19:33444599 CEP89 CTT>C	19	33444599	33444601	CTT	C	CEP89	c.412_413del	NM_032816.5	NP_116205.3:p.(Lys138GlyfsTer16)	NC_000019.9:g.33444600_33444601del	(Likely) benign	1 lab	38434594a2
22:19898906 TXNRD2 C>G	22	19898906	19898906	C	G	TXNRD2	c.656G>C	NM_001282512.3	NP_001269441.1:p.(Gly219Ala)	NC_000022.10:g.19898906C>G	VUS	1 lab	3851c202de
Y:6958217 TBL1Y G>GC	Y	6958217	6958218	G	GC	TBL1Y	c.1535dup	NM_033284.2	NP_150600.1:p.(Ser513ValfsTer2)	NC_000024.9:g.6958218dup	VUS	1 lab	3854b05ba2
10:50678696 ERCC6 T>A	10	50678696	50678696	T	A	ERCC6	c.3310A>T	NM_000124.4	NP_000115.1:p.(Asn1104Tyr)	NC_000010.10:g.50678696T>A	VUS	1 lab	385728ed8b
10:126103643 OAT TA>T	10	126103643	126103680	TA	T	OAT	c.-29-2875del	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126103680del	(Likely) benign	1 lab	385d4e0a8f
2:47637433 MSH2 TCTC>T	2	47637433	47637439	TCTC	T	MSH2	c.571_573del	NM_000251.3	NP_000242.1:p.(Leu191del)	NC_000002.11:g.47637437_47637439del	(Likely) pathogenic	1 lab	38608575a7
19:50102986 PRR12 CCTT>C	19	50102986	50102991	CCTT	C	PRR12	c.4139_4141del	NM_020719.3	NP_065770.1:p.(Phe1380del)	NC_000019.9:g.50102989_50102991del	VUS	1 lab	38674f31b5
2:200320649 SATB2 C>T	2	200320649	200320649	C	T	SATB2	c.112G>A	NM_015265.4	NP_056080.1:p.(Gly38Ser)	NC_000002.11:g.200320649C>T	VUS	1 lab	386a6fe436
1:237995909 RYR2 G>A	1	237995909	237995909	G	A	RYR2	c.14866G>A	NM_001035.3	NP_001026.2:p.(Asp4956Asn)	NC_000001.10:g.237995909G>A	VUS	1 lab	386c3f4a5f
11:57564457 CTNND1 C>T	11	57564457	57564457	C	T	CTNND1	c.949C>T	NM_001085458.2	NP_001078927.1:p.(Arg317Cys)	NC_000011.9:g.57564457C>T	VUS	1 lab	38710c11d3
3:38620915 SCN5A C>T	3	38620915	38620915	C	T	SCN5A	c.3300G>A	NM_001099404.2	NP_001092874.1:p.(Ala1100=)	NC_000003.11:g.38620915C>T	(Likely) benign	1 lab	3877726193
16:29824997 PRRT2 T>TC	16	29824997	29825004	T	TC	PRRT2	c.629dup	NM_001256443.2	NP_001243372.1:p.(Ala211SerfsTer14)	NC_000016.9:g.29825004dup	(Likely) pathogenic	1 lab	387a96d417
5:176638752 NSD1 G>T	5	176638752	176638752	G	T	NSD1	c.3352G>T	NM_022455.5	NP_071900.2:p.(Asp1118Tyr)	NC_000005.9:g.176638752G>T	VUS	1 lab	388b266a97
6:149721690 SUMO4 G>A	6	149721690	149721690	G	A	SUMO4	c.163G>A	NM_001002255.2	NP_001002255.1:p.(Val55Met)	NC_000006.11:g.149721690G>A	(Likely) benign	1 lab	389616b493
17:79974731 ASPSCR1 T>C	17	79974731	79974731	T	C	ASPSCR1	c.1743T>C	NM_001251888.2	NP_001238817.1:p.(Asp581=)	NC_000017.10:g.79974731T>C	(Likely) benign	1 lab	3896513d36
1:112524810 KCND3 G>T	1	112524810	112524810	G	T	KCND3	c.539C>A	NM_004980.5	NP_004971.2:p.(Thr180Lys)	NC_000001.10:g.112524810G>T	VUS	1 lab	3898a79656
13:32910423 BRCA2 A>T	13	32910423	32910423	A	T	BRCA2	c.1931A>T	NM_000059.4	NP_000050.3:p.(Lys644Ile)	NC_000013.10:g.32910423A>T	(Likely) benign	1 lab	3898d857d3
16:2121877 TSC2 G>A	16	2121877	2121877	G	A	TSC2	c.2039G>A	NM_000548.5	NP_000539.2:p.(Arg680Gln)	NC_000016.9:g.2121877G>A	VUS	1 lab	389a29d877
18:67776854 RTTN C>T	18	67776854	67776854	C	T	RTTN	c.3783G>A	NM_173630.4	NP_775901.3:p.(Pro1261=)	NC_000018.9:g.67776854C>T	(Likely) benign	1 lab	389eba9ffe
5:86658383 RASA1 C>T	5	86658383	86658383	C	T	RASA1	c.1348C>T	NM_002890.3	NP_002881.1:p.(Leu450Phe)	NC_000005.9:g.86658383C>T	(Likely) benign	1 lab	389fcc113d
3:58178521 DNASE1L3 C>T	3	58178521	58178521	C	T	DNASE1L3	c.811G>A	NM_004944.4	NP_004935.1:p.(Val271Ile)	NC_000003.11:g.58178521C>T	VUS	1 lab	38a53ca0f2
8:91031074 DECR1 G>A	8	91031074	91031074	G	A	DECR1	c.273-63G>A	NM_001359.2	NP_001350.1:p.?	NC_000008.10:g.91031074G>A	(Likely) benign	1 lab	38a5f36c7c
21:45507628 TRAPPC10 C>T	21	45507628	45507628	C	T	TRAPPC10	c.2588C>T	NM_003274.5	NP_003265.3:p.(Thr863Met)	NC_000021.8:g.45507628C>T	VUS	1 lab	38a87adb99
2:179473605 TTN A>G	2	179473605	179473605	A	G	TTN	c.52133T>C	NM_001267550.2	NP_001254479.2:p.(Phe17378Ser)	NC_000002.11:g.179473605A>G	VUS	1 lab	38ab4f017b
9:372194 DOCK8 A>G	9	372194	372194	A	G	DOCK8	c.2017A>G	NM_203447.4	NP_982272.2:p.(Ile673Val)	NC_000009.11:g.372194A>G	VUS	1 lab	38b13c6efa
7:117432526 CTTNBP2 G>T	7	117432526	117432526	G	T	CTTNBP2	c.724C>A	NM_033427.3	NP_219499.1:p.(Arg242Ser)	NC_000007.13:g.117432526G>T	VUS	1 lab	38b2867f67
16:88800129 PIEZO1 G>T	16	88800129	88800129	G	T	PIEZO1	c.2354C>A	NM_001142864.4	NP_001136336.2:p.(Ala785Asp)	NC_000016.9:g.88800129G>T	VUS	1 lab	38b68e6b1b
2:179466507 TTN G>A	2	179466507	179466507	G	A	TTN	c.55310C>T	NM_001267550.2	NP_001254479.2:p.(Thr18437Ile)	NC_000002.11:g.179466507G>A	VUS	1 lab	38b79112f5
6:31994816 C4B C>T	6	31994816	31994816	C	T	C4B	c.2509C>T	NM_001002029.4	NP_001002029.3:p.(Leu837Phe)	NC_000006.11:g.31994816C>T	VUS	1 lab	38badae635
1:152276476 FLG T>C	1	152276476	152276476	T	C	FLG	c.10886A>G	NM_002016.2	NP_002007.1:p.(His3629Arg)	NC_000001.10:g.152276476T>C	VUS	1 lab	38bd76dbc5
10:115389385 NRAP T>G	10	115389385	115389385	T	G	NRAP	c.2002A>C	NM_001261463.2	NP_001248392.1:p.(Thr668Pro)	NC_000010.10:g.115389385T>G	VUS	1 lab	38bf661ad1
4:15977828 PROM1 C>G	4	15977828	15977828	C	G	PROM1	c.2555+3190G>C	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15977828C>G	(Likely) benign	1 lab	38c8b23953
15:31776276 OTUD7A C>T	15	31776276	31776276	C	T	OTUD7A	c.2002G>A	NM_130901.3	NP_570971.1:p.(Glu668Lys)	NC_000015.9:g.31776276C>T	VUS	1 lab	38ca9394f5
13:48953741 RB1 T>TG	13	48953741	48953743	T	TG	RB1	c.1346dup	NM_000321.3	NP_000312.2:p.(Val450SerfsTer13)	NC_000013.10:g.48953743dup	(Likely) pathogenic	1 lab	38cab2ff43
22:23523997 BCR G>A	22	23523997	23523997	G	A	BCR	c.850G>A	NM_004327.4	NP_004318.3:p.(Val284Ile)	NC_000022.10:g.23523997G>A	VUS	1 lab	38cba90fc4
2:179459202 TTN A>T	2	179459202	179459202	A	T	TTN	c.58019T>A	NM_001267550.2	NP_001254479.2:p.(Leu19340His)	NC_000002.11:g.179459202A>T	VUS	1 lab	38d23157bf
16:89351337 ANKRD11 T>G	16	89351337	89351337	T	G	ANKRD11	c.1613A>C	NM_013275.6	NP_037407.4:p.(His538Pro)	NC_000016.9:g.89351337T>G	VUS	1 lab	38d31491ca
1:1417604 ATAD3B C>T	1	1417604	1417604	C	T	ATAD3B	c.601C>T	NM_031921.6	NP_114127.3:p.(Arg201Trp)	NC_000001.10:g.1417604C>T	VUS	1 lab	38d5b6f814
12:6700634 CHD4 T>C	12	6700634	6700634	T	C	CHD4	c.3338A>G	NM_001273.5	NP_001264.2:p.(Asn1113Ser)	NC_000012.11:g.6700634T>C	VUS	1 lab	38dbffd3d9
13:20635289 ZMYM2 C>G	13	20635289	20635289	C	G	ZMYM2	c.2836C>G	NM_003453.6	NP_003444.1:p.(Leu946Val)	NC_000013.10:g.20635289C>G	VUS	1 lab	38e5f32b8a
20:44050133 PIGT C>G	20	44050133	44050133	C	G	PIGT	c.1144C>G	NM_015937.6	NP_057021.2:p.(Pro382Ala)	NC_000020.10:g.44050133C>G	VUS	1 lab	38e89e5dc8
2:206991416 NDUFS1 T>A	2	206991416	206991416	T	A	NDUFS1	c.2019+18A>T	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.206991416T>A	(Likely) benign	1 lab	38ea02e5a1
2:21234695 APOB A>G	2	21234695	21234695	A	G	APOB	c.5045T>C	NM_000384.3	NP_000375.3:p.(Met1682Thr)	NC_000002.11:g.21234695A>G	VUS	1 lab	38edd0d19b
2:219874697 CFAP65 G>T	2	219874697	219874697	G	T	CFAP65	c.4419C>A	NM_194302.4	NP_919278.2:p.(Phe1473Leu)	NC_000002.11:g.219874697G>T	VUS	1 lab	38ee5ad198
2:29074141 TRMT61B A>G	2	29074141	29074141	A	G	TRMT61B	c.1109T>C	NM_017910.4	NP_060380.3:p.(Leu370Ser)	NC_000002.11:g.29074141A>G	(Likely) benign	1 lab	38f66b1768
X:153062018 SSR4 G>C	X	153062018	153062018	G	C	SSR4	c.219+11G>C	NM_001204526.1	NP_001191455.1:p.?	NC_000023.10:g.153062018G>C	(Likely) benign	1 lab	38ff7f40b6
17:26851501 FOXN1 G>A	17	26851501	26851501	G	A	FOXN1	c.124-20G>A	NM_003593.3	NP_003584.2:p.?	NC_000017.10:g.26851501G>A	(Likely) benign	1 lab	3907157cad
9:35737387 GBA2 G>A	9	35737387	35737387	G	A	GBA2	c.2563C>T	NM_020944.3	NP_065995.1:p.(Arg855Cys)	NC_000009.11:g.35737387G>A	VUS	1 lab	3909647233
8:61767069 CHD7 C>T	8	61767069	61767069	C	T	CHD7	c.6923C>T	NM_017780.4	NP_060250.2:p.(Ser2308Leu)	NC_000008.10:g.61767069C>T	VUS	1 lab	390f0da9c6
16:28883185 SH2B1 T>C	16	28883185	28883185	T	C	SH2B1	c.1394T>C	NM_001145795.2	NP_001139267.1:p.(Met465Thr)	NC_000016.9:g.28883185T>C	VUS	1 lab	3914f75885
12:24048942 SOX5 G>C	12	24048942	24048942	G	C	SOX5	c.55C>G	NM_006940.6	NP_008871.3:p.(Pro19Ala)	NC_000012.11:g.24048942G>C	VUS	1 lab	3915e2c739
2:105472775 POU3F3 GCAC>G	2	105472775	105472799	GCAC	G	POU3F3	c.829_831del	NM_006236.3	NP_006227.1:p.(His277del)	NC_000002.11:g.105472797_105472799del	(Likely) benign	1 lab	391667b02d
19:13397721 CACNA1A A>G	19	13397721	13397721	A	G	CACNA1A	c.3152T>C	NM_001127221.2	NP_001120693.1:p.(Ile1051Thr)	NC_000019.9:g.13397721A>G	VUS	1 lab	3917c81c8c
14:50585231 SOS2 A>G	14	50585231	50585231	A	G	SOS2	c.3830T>C	NM_006939.4	NP_008870.2:p.(Leu1277Pro)	NC_000014.8:g.50585231A>G	(Likely) benign	1 lab	3919620139
11:1481898 BRSK2 C>G	11	1481898	1481898	C	G	BRSK2	c.2156C>G	NM_001256627.2	NP_001243556.1:p.(Thr719Arg)	NC_000011.9:g.1481898C>G	VUS	1 lab	3919e9fb6b
8:117859773 RAD21 A>G	8	117859773	117859773	A	G	RAD21	c.1862T>C	NM_006265.3	NP_006256.1:p.(Ile621Thr)	NC_000008.10:g.117859773A>G	VUS	1 lab	391f4e15dd
21:34923184 SON AGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCG>A	21	34923184	34923222	AGGACAGCCAGTGGCAACGACAGCGCTGGAGTTGCCG	A	SON	c.1650_1685del	NM_032195.3	NP_115571.3:p.(Val553_Pro564del)	NC_000021.8:g.34923187_34923222del	VUS	1 lab	392015d8e1
16:89251619 CDH15 G>A	16	89251619	89251619	G	A	CDH15	c.541G>A	NM_004933.3	NP_004924.1:p.(Asp181Asn)	NC_000016.9:g.89251619G>A	VUS	1 lab	3921b37fe2
16:56226508 GNAO1 C>A	16	56226508	56226508	C	A	GNAO1	c.141C>A	NM_138736.3	NP_620073.2:p.(Ser47Arg)	NC_000016.9:g.56226508C>A	(Likely) pathogenic	1 lab	3921f03bf4
7:144098992 NOBOX G>A	7	144098992	144098992	G	A	NOBOX	c.262C>T	NM_001080413.3	NP_001073882.3:p.(Leu88=)	NC_000007.13:g.144098992G>A	(Likely) benign	1 lab	3922523434
20:42788447 JPH2 C>T	20	42788447	42788447	C	T	JPH2	c.980G>A	NM_020433.5	NP_065166.2:p.(Gly327Asp)	NC_000020.10:g.42788447C>T	VUS	1 lab	392744d761
5:5200384 ADAMTS16 T>C	5	5200384	5200384	T	C	ADAMTS16	c.1451+2T>C	NM_139056.4	NP_620687.2:p.?	NC_000005.9:g.5200384T>C	VUS	1 lab	3927803352
X:153219945 HCFC1 G>A	X	153219945	153219945	G	A	HCFC1	c.3905C>T	NM_005334.3	NP_005325.2:p.(Thr1302Ile)	NC_000023.10:g.153219945G>A	VUS	1 lab	392818db96
5:55237383 IL6ST C>T	5	55237383	55237383	C	T	IL6ST	c.2284G>A	NM_002184.4	NP_002175.2:p.(Val762Met)	NC_000005.9:g.55237383C>T	VUS	1 lab	392e88b864
7:94054429 COL1A2 G>C	7	94054429	94054429	G	C	COL1A2	c.2674G>C	NM_000089.4	NP_000080.2:p.(Gly892Arg)	NC_000007.13:g.94054429G>C	(Likely) pathogenic	1 lab	393ba47ee9
20:48098659 KCNB1 T>A	20	48098659	48098659	T	A	KCNB1	c.359A>T	NM_004975.4	NP_004966.1:p.(Asp120Val)	NC_000020.10:g.48098659T>A	VUS	1 lab	393c5ab930
10:112404321 RBM20 G>C	10	112404321	112404321	G	C	RBM20	c.109G>C	NM_001134363.3	NP_001127835.2:p.(Gly37Arg)	NC_000010.10:g.112404321G>C	VUS	1 lab	393d8ec2e3
13:111090924 COL4A2 G>A	13	111090924	111090924	G	A	COL4A2	c.862-41G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111090924G>A	(Likely) benign	1 lab	3940b8a4a4
2:131355085 CFC1 G>T	2	131355085	131355085	G	T	CFC1	c.454C>A	NM_032545.4	NP_115934.1:p.(Gln152Lys)	NC_000002.11:g.131355085G>T	(Likely) benign	1 lab	394158d41f
3:37090005 MLH1 C>G	3	37090005	37090005	C	G	MLH1	c.1897-3C>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37090005C>G	VUS	1 lab	3941caf6cb
14:50625284 SOS2 G>A	14	50625284	50625284	G	A	SOS2	c.1933C>T	NM_006939.4	NP_008870.2:p.(Arg645Trp)	NC_000014.8:g.50625284G>A	VUS	1 lab	3942abe076
7:70254755 AUTS2 C>G	7	70254755	70254755	C	G	AUTS2	c.2553C>G	NM_015570.4	NP_056385.1:p.(His851Gln)	NC_000007.13:g.70254755C>G	(Likely) benign	1 lab	394440f219
1:39776598 MACF1 A>T	1	39776598	39776598	A	T	MACF1	c.3211A>T	NM_012090.5	NP_036222.3:p.(Ile1071Phe)	NC_000001.10:g.39776598A>T	VUS	1 lab	3946b56343
4:47667064 CORIN T>C	4	47667064	47667064	T	C	CORIN	c.1574A>G	NM_006587.4	NP_006578.2:p.(His525Arg)	NC_000004.11:g.47667064T>C	(Likely) benign	1 lab	394d05dc7b
11:6654101 DCHS1 C>T	11	6654101	6654101	C	T	DCHS1	c.2642G>A	NM_003737.4	NP_003728.1:p.(Arg881His)	NC_000011.9:g.6654101C>T	(Likely) benign	1 lab	394d4d08b7
1:236917305 ACTN2 A>G	1	236917305	236917305	A	G	ACTN2	c.1898A>G	NM_001103.4	NP_001094.1:p.(His633Arg)	NC_000001.10:g.236917305A>G	VUS	1 lab	394f3f375c
17:48653354 CACNA1G C>A	17	48653354	48653354	C	A	CACNA1G	c.1591C>A	NM_018896.5	NP_061496.2:p.(Arg531=)	NC_000017.10:g.48653354C>A	(Likely) benign	1 lab	394f77d370
11:66062546 TMEM151A C>T	11	66062546	66062546	C	T	TMEM151A	c.829C>T	NM_153266.4	NP_694998.1:p.(Arg277Cys)	NC_000011.9:g.66062546C>T	(Likely) benign	1 lab	395306c74c
3:136048756 PCCB A>G	3	136048756	136048756	A	G	PCCB	c.1508A>G	NM_000532.5	NP_000523.2:p.(Asp503Gly)	NC_000003.11:g.136048756A>G	(Likely) pathogenic	1 lab	3956544f12
15:23890087 MAGEL2 C>T	15	23890087	23890087	C	T	MAGEL2	c.2803G>A	NM_019066.5	NP_061939.3:p.(Glu935Lys)	NC_000015.9:g.23890087C>T	VUS	1 lab	3957c87129
1:240370980 FMN2 GC>G	1	240370980	240370985	GC	G	FMN2	c.2873del	NM_020066.5	NP_064450.3:p.(Pro958LeufsTer317)	NC_000001.10:g.240370985del	VUS	1 lab	395bfa6658
19:11339659 DOCK6 C>T	19	11339659	11339659	C	T	DOCK6	c.2771G>A	NM_020812.4	NP_065863.2:p.(Arg924His)	NC_000019.9:g.11339659C>T	VUS	1 lab	395ed5bf50
2:49190548 FSHR A>C	2	49190548	49190548	A	C	FSHR	c.1412T>G	NM_000145.4	NP_000136.2:p.(Ile471Ser)	NC_000002.11:g.49190548A>C	VUS	1 lab	395efd1d91
1:197056003 ASPM G>T	1	197056003	197056003	G	T	ASPM	c.10261C>A	NM_018136.5	NP_060606.3:p.(Gln3421Lys)	NC_000001.10:g.197056003G>T	VUS	1 lab	3963faacee
16:88786678 PIEZO1 G>A	16	88786678	88786678	G	A	PIEZO1	c.5963C>T	NM_001142864.4	NP_001136336.2:p.(Ala1988Val)	NC_000016.9:g.88786678G>A	VUS	1 lab	396a37a25e
2:179427039 TTN G>A	2	179427039	179427039	G	A	TTN	c.83820C>T	NM_001267550.2	NP_001254479.2:p.(Asn27940=)	NC_000002.11:g.179427039G>A	(Likely) benign	1 lab	396b5ddc3d
16:2154531 PKD1 G>T	16	2154531	2154531	G	T	PKD1	c.8129C>A	NM_001009944.3	NP_001009944.3:p.(Thr2710Asn)	NC_000016.9:g.2154531G>T	(Likely) benign	1 lab	396f6d7e49
17:39742921 KRT14 G>A	17	39742921	39742921	G	A	KRT14	c.166C>T	NM_000526.5	NP_000517.3:p.(Arg56Cys)	NC_000017.10:g.39742921G>A	(Likely) benign	1 lab	3970ad9086
5:118861713 HSD17B4 A>G	5	118861713	118861713	A	G	HSD17B4	c.1750A>G	NM_001199291.3	NP_001186220.1:p.(Ile584Val)	NC_000005.9:g.118861713A>G	(Likely) benign	1 lab	3974c61763
1:53676400 CPT2 T>C	1	53676400	53676400	T	C	CPT2	c.1054T>C	NM_000098.3	NP_000089.1:p.(Phe352Leu)	NC_000001.10:g.53676400T>C	VUS	1 lab	3976438910
7:83021994 SEMA3E C>G	7	83021994	83021994	C	G	SEMA3E	c.1544G>C	NM_012431.3	NP_036563.1:p.(Arg515Thr)	NC_000007.13:g.83021994C>G	VUS	1 lab	3976d73db3
1:245865843 KIF26B G>C	1	245865843	245865843	G	C	KIF26B	c.6262G>C	NM_018012.4	NP_060482.2:p.(Val2088Leu)	NC_000001.10:g.245865843G>C	VUS	1 lab	397dd08165
X:47434134 SYN1 G>C	X	47434134	47434134	G	C	SYN1	c.1346C>G	NM_133499.2	NP_598006.1:p.(Ser449Cys)	NC_000023.10:g.47434134G>C	VUS	1 lab	397f18775b
2:10186419 KLF11 A>G	2	10186419	10186419	A	G	KLF11	c.134A>G	NM_001177718.2	NP_001171189.1:p.(Gln45Arg)	NC_000002.11:g.10186419A>G	(Likely) benign	1 lab	398511be79
6:157100023 ARID1B C>CGGAGGA	6	157100023	157100048	C	CGGAGGA	ARID1B	c.1229_1234dup	NM_001371656.1	NP_001358585.1:p.(Gly410_Gly411dup)	NC_000006.11:g.157100043_157100048dup	VUS	1 lab	3987cdaef5
5:60214176 ERCC8 TAC>T	5	60214176	60214179	TAC	T	ERCC8	c.139_140del	NM_001007233.3	NP_001007234.1:p.(Val47ThrfsTer6)	NC_000005.9:g.60214178_60214179del	(Likely) pathogenic	1 lab	3997806a22
2:236708096 AGAP1 A>C	2	236708096	236708096	A	C	AGAP1	c.887A>C	NM_014914.5	NP_055729.2:p.(Asp296Ala)	NC_000002.11:g.236708096A>C	VUS	1 lab	3998dd1f7e
18:25729516 CDH2 T>C	18	25729516	25729516	T	C	CDH2	c.61-1768A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25729516T>C	VUS	1 lab	39a06014a9
9:139412204 NOTCH1 C>T	9	139412204	139412204	C	T	NOTCH1	c.1441G>A	NM_017617.5	NP_060087.3:p.(Gly481Ser)	NC_000009.11:g.139412204C>T	VUS	1 lab	39a4b75794
19:12996127 KLF1 T>C	19	12996127	12996127	T	C	KLF1	c.913+4A>G	NM_006563.5	NP_006554.1:p.?	NC_000019.9:g.12996127T>C	VUS	1 lab	39aa8530b9
2:170025079 LRP2 C>T	2	170025079	170025079	C	T	LRP2	c.11605G>A	NM_004525.3	NP_004516.2:p.(Asp3869Asn)	NC_000002.11:g.170025079C>T	VUS	1 lab	39af30f721
12:102159999 GNPTAB C>T	12	102159999	102159999	C	T	GNPTAB	c.1482G>A	NM_024312.5	NP_077288.2:p.(Gln494=)	NC_000012.11:g.102159999C>T	(Likely) benign	1 lab	39b82dd203
11:64537827 SF1 C>T	11	64537827	64537827	C	T	SF1	c.290G>A	NM_201995.3	NP_973724.1:p.(Arg97Gln)	NC_000011.9:g.64537827C>T	VUS	1 lab	39c13848e3
15:80464532 FAH C>A	15	80464532	80464532	C	A	FAH	c.648C>A	NM_000137.4	NP_000128.1:p.(Ile216=)	NC_000015.9:g.80464532C>A	(Likely) benign	1 lab	39c4aa5f65
8:55371990 SOX17 T>C	8	55371990	55371990	T	C	SOX17	c.680T>C	NM_022454.4	NP_071899.1:p.(Leu227Pro)	NC_000008.10:g.55371990T>C	VUS	1 lab	39cdfc87a3
12:27807652 PPFIBP1 CAG>C	12	27807652	27807654	CAG	C	PPFIBP1	c.145-2_145-1del	NM_001198915.2	NP_001185844.1:p.?	NC_000012.11:g.27807653_27807654del	(Likely) pathogenic	1 lab	39d19e2b90
X:70342625 MED12 G>T	X	70342625	70342625	G	T	MED12	c.1386G>T	NM_005120.3	NP_005111.2:p.(Val462=)	NC_000023.10:g.70342625G>T	(Likely) benign	1 lab	39d3c3f2c5
X:153296109 MECP2 TGGAGGTGGG>T	X	153296109	153296120	TGGAGGTGGG	T	MECP2	c.1161_1169del	NM_004992.4	NP_004983.1:p.(Pro389_Pro391del)	NC_000023.10:g.153296112_153296120del	VUS	1 lab	39d8c0308e
6:146719931 GRM1 C>T	6	146719931	146719931	C	T	GRM1	c.1756C>T	NM_001278064.2	NP_001264993.1:p.(Leu586Phe)	NC_000006.11:g.146719931C>T	VUS	1 lab	39de95434c
X:47307193 ZNF41 C>G	X	47307193	47307193	C	G	ZNF41	c.1976G>C	NM_153380.3	NP_700359.1:p.(Gly659Ala)	NC_000023.10:g.47307193C>G	VUS	1 lab	39e38898dc
3:172835082 SPATA16 C>T	3	172835082	172835082	C	T	SPATA16	c.440G>A	NM_031955.6	NP_114161.3:p.(Gly147Glu)	NC_000003.11:g.172835082C>T	(Likely) benign	1 lab	39e9b0d32d
7:107559502 DLD A>C	7	107559502	107559502	A	C	DLD	c.1422A>C	NM_000108.5	NP_000099.2:p.(Gly474=)	NC_000007.13:g.107559502A>C	(Likely) benign	1 lab	39ebcd75bf
3:50382959 ZMYND10 C>A	3	50382959	50382959	C	A	ZMYND10	c.52G>T	NM_015896.4	NP_056980.2:p.(Gly18Cys)	NC_000003.11:g.50382959C>A	VUS	1 lab	39ed658a5f
14:105406811 AHNAK2 C>T	14	105406811	105406811	C	T	AHNAK2	c.14977G>A	NM_138420.4	NP_612429.2:p.(Asp4993Asn)	NC_000014.8:g.105406811C>T	VUS	1 lab	39f3cc41be
12:12291339 LRP6 T>G	12	12291339	12291339	T	G	LRP6	c.3527A>C	NM_002336.3	NP_002327.2:p.(Glu1176Ala)	NC_000012.11:g.12291339T>G	(Likely) benign	1 lab	39f5d2aa40
7:104753553 KMT2E C>T	7	104753553	104753553	C	T	KMT2E	c.5350C>T	NM_182931.3	NP_891847.1:p.(Pro1784Ser)	NC_000007.13:g.104753553C>T	(Likely) benign	1 lab	39f897cf92
5:82807945 VCAN CCCAGTAAATTCA>C	5	82807945	82807959	CCCAGTAAATTCA	C	VCAN	c.775_786del	NM_004385.5	NP_004376.2:p.(Ser259_Thr262del)	NC_000005.9:g.82807948_82807959del	VUS	1 lab	39faf0785a
11:95825374 MAML2 TTGCTGCTGCTGC>T	11	95825374	95825415	TTGCTGCTGCTGC	T	MAML2	c.1809_1820del	NM_032427.4	NP_115803.1:p.(Gln618_Gln621del)	NC_000011.9:g.95825404_95825415del	(Likely) benign	1 lab	39fd4d1534
1:2161077 SKI ACACGGGCAAGGAGGAG>A	1	2161077	2161095	ACACGGGCAAGGAGGAG	A	SKI	c.875_890del	NM_003036.4	NP_003027.1:p.(Thr292ArgfsTer11)	NC_000001.10:g.2161080_2161095del	(Likely) pathogenic	1 lab	39fd8db455
4:106155778 TET2 G>GA	4	106155778	106155784	G	GA	TET2	c.685dup	NM_001127208.3	NP_001120680.1:p.(Thr229AsnfsTer25)	NC_000004.11:g.106155784dup	(Likely) pathogenic	1 lab	39fda1f4b8
17:41244534 BRCA1 TC>T	17	41244534	41244536	TC	T	BRCA1	c.3013del	NM_007294.4	NP_009225.1:p.(Glu1005AsnfsTer19)	NC_000017.10:g.41244536del	(Likely) pathogenic	1 lab	39fdc4fdca
1:151633309 SNX27 A>C	1	151633309	151633309	A	C	SNX27	c.772A>C	NM_030918.6	NP_112180.4:p.(Met258Leu)	NC_000001.10:g.151633309A>C	VUS	1 lab	3a00070718
12:46245190 ARID2 C>CTA	12	46245190	46245192	C	CTA	ARID2	c.3285_3286insAT	NM_152641.4	NP_689854.2:p.(Gln1096IlefsTer61)	NC_000012.11:g.46245191_46245192insAT	(Likely) pathogenic	1 lab	3a0083694e
X:77294378 ATP7A G>A	X	77294378	77294378	G	A	ATP7A	c.3556G>A	NM_000052.7	NP_000043.4:p.(Glu1186Lys)	NC_000023.10:g.77294378G>A	VUS	1 lab	3a03ff8b58
2:121747797 GLI2 C>T	2	121747797	121747797	C	T	GLI2	c.4307C>T	NM_005270.5	NP_005261.2:p.(Ala1436Val)	NC_000002.11:g.121747797C>T	VUS	1 lab	3a07a1968e
19:17323085 MYO9B G>T	19	17323085	17323085	G	T	MYO9B	c.6440G>T	NM_004145.4	NP_004136.2:p.(Cys2147Phe)	NC_000019.9:g.17323085G>T	VUS	1 lab	3a08b72c86
13:25480480 CPAP G>A	13	25480480	25480480	G	A	CPAP	c.1696C>T	NM_018451.5	NP_060921.3:p.(Arg566Ter)	NC_000013.10:g.25480480G>A	(Likely) pathogenic	1 lab	3a0e5c4acd
11:70331641 SHANK2 G>A	11	70331641	70331641	G	A	SHANK2	c.4757C>T	NM_012309.5	NP_036441.2:p.(Pro1586Leu)	NC_000011.9:g.70331641G>A	(Likely) benign	1 lab	3a15c696e1
6:32632598 HLA-DQB1 A>T	6	32632598	32632598	A	T	HLA-DQB1	c.356T>A	NM_001243961.2	NP_001230890.1:p.(Phe119Tyr)	NC_000006.11:g.32632598A>T	(Likely) benign	1 lab	3a1c1f5784
X:12728525 FRMPD4 C>T	X	12728525	12728525	C	T	FRMPD4	c.1478C>T	NM_014728.3	NP_055543.2:p.(Thr493Met)	NC_000023.10:g.12728525C>T	VUS	1 lab	3a2046ae0e
5:138661353 MATR3 T>TATA	5	138661353	138661354	T	TATA	MATR3	c.2371+2_2371+3insATA	NM_199189.3	NP_954659.1:p.?	NC_000005.9:g.138661353_138661354insATA	VUS	1 lab	3a20cdd87a
7:21939016 DNAH11 C>T	7	21939016	21939016	C	T	DNAH11	c.13112C>T	NM_001277115.2	NP_001264044.1:p.(Pro4371Leu)	NC_000007.13:g.21939016C>T	(Likely) pathogenic	1 lab	3a23e2fc2e
16:23632801 PALB2 T>G	16	23632801	23632801	T	G	PALB2	c.2997-2A>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23632801T>G	VUS	1 lab	3a25f7fadc
X:48370293 PORCN G>A	X	48370293	48370293	G	A	PORCN	c.343G>A	NM_203475.3	NP_982301.1:p.(Val115Ile)	NC_000023.10:g.48370293G>A	VUS	1 lab	3a296d664a
19:13446651 CACNA1A TA>T	19	13446651	13446657	TA	T	CACNA1A	c.1050del	NM_023035.3	NP_075461.2:p.(Phe350LeufsTer3)	NC_000019.9:g.13446657del	(Likely) pathogenic	1 lab	3a2b1b9740
7:37889838 NME8 TTTTC>T	7	37889838	37889849	TTTTC	T	NME8	c.-7-16_-7-13del	NM_016616.5	NP_057700.3:p.?	NC_000007.13:g.37889846_37889849del	(Likely) benign	1 lab	3a2d70e924
4:187539971 FAT1 T>C	4	187539971	187539971	T	C	FAT1	c.7769A>G	NM_005245.4	NP_005236.2:p.(Asn2590Ser)	NC_000004.11:g.187539971T>C	VUS	1 lab	3a379dfe0f
2:179481740 TTN A>T	2	179481740	179481740	A	T	TTN	c.47876T>A	NM_001267550.2	NP_001254479.2:p.(Val15959Asp)	NC_000002.11:g.179481740A>T	VUS	1 lab	3a3a34acf1
14:50704331 MISSING C>T	14	50704331	50704331	C	T	MISSING				NC_000014.8:g.50704331C>T	(Likely) benign	1 lab	3a3aa36438
11:117693255 FXYD6-FXYD2 T>C	11	117693255	117693255	T	C	FXYD6-FXYD2	c.299-60A>G	NM_001204268.3	NP_001191197.1:p.?	NC_000011.9:g.117693255T>C	(Likely) benign	1 lab	3a3d9ab921
17:66526083 PRKAR1A G>A	17	66526083	66526083	G	A	PRKAR1A	c.914G>A	NM_002734.5	NP_002725.1:p.(Arg305His)	NC_000017.10:g.66526083G>A	VUS	1 lab	3a405938a3
12:49445428 KMT2D T>G	12	49445428	49445428	T	G	KMT2D	c.2038A>C	NM_003482.4	NP_003473.3:p.(Thr680Pro)	NC_000012.11:g.49445428T>G	VUS	1 lab	3a430077af
6:24301957 DCDC2 G>T	6	24301957	24301957	G	T	DCDC2	c.543C>A	NM_016356.5	NP_057440.2:p.(Ser181Arg)	NC_000006.11:g.24301957G>T	VUS	1 lab	3a472901d5
11:34937901 PDHX A>G	11	34937901	34937901	A	G	PDHX				NC_000011.9:g.34937901A>G	(Likely) benign	1 lab	3a48655296
12:88479887 CEP290 C>T	12	88479887	88479887	C	T	CEP290	c.4366G>A	NM_025114.4	NP_079390.3:p.(Ala1456Thr)	NC_000012.11:g.88479887C>T	VUS	1 lab	3a49124e45
19:11105485 SMARCA4 CT>C	19	11105485	11105489	CT	C	SMARCA4	c.1420-15del	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11105489del	(Likely) benign	1 lab	3a4adbe302
7:50563092 DDC AT>A	7	50563092	50563094	AT	A	DDC	c.899del	NM_001082971.2	NP_001076440.2:p.(Asn300IlefsTer8)	NC_000007.13:g.50563094del	(Likely) pathogenic	1 lab	3a56df37cc
9:71850980 TJP2 C>T	9	71850980	71850980	C	T	TJP2	c.1817C>T	NM_004817.4	NP_004808.2:p.(Ser606Leu)	NC_000009.11:g.71850980C>T	VUS	1 lab	3a58a39fa7
14:38060646 FOXA1 C>T	14	38060646	38060646	C	T	FOXA1	c.1343G>A	NM_004496.5	NP_004487.2:p.(Ser448Asn)	NC_000014.8:g.38060646C>T	(Likely) benign	1 lab	3a5cada858
2:1546327 TPO C>G	2	1546327	1546327	C	G	TPO	c.*81C>G	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1546327C>G	(Likely) benign	1 lab	3a5e6ee191
X:32360390 DMD G>A	X	32360390	32360390	G	A	DMD	c.5749C>T	NM_004006.3	NP_003997.2:p.(Arg1917Trp)	NC_000023.10:g.32360390G>A	VUS	1 lab	3a5fe10ad6
13:32758834 FRY A>G	13	32758834	32758834	A	G	FRY	c.3146+6A>G	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32758834A>G	(Likely) benign	1 lab	3a60d430d4
9:127253473 NR5A1 G>A	9	127253473	127253473	G	A	NR5A1	c.1025C>T	NM_004959.5	NP_004950.2:p.(Ser342Leu)	NC_000009.11:g.127253473G>A	VUS	1 lab	3a65b78ed1
7:6442041 RAC1 C>T	7	6442041	6442041	C	T	RAC1	c.600C>T	NM_018890.4	NP_061485.1:p.(Pro200=)	NC_000007.13:g.6442041C>T	(Likely) benign	1 lab	3a69ef3948
10:43596029 RET T>A	10	43596029	43596029	T	A	RET	c.196T>A	NM_020975.6	NP_066124.1:p.(Phe66Ile)	NC_000010.10:g.43596029T>A	VUS	1 lab	3a6a6fe8ab
7:43684847 COA1 T>C	7	43684847	43684847	T	C	COA1	c.264+3A>G	NM_001350927.2	NP_001337856.1:p.?	NC_000007.13:g.43684847T>C	(Likely) benign	1 lab	3a6cae46d0
17:8139408 CTC1 G>A	17	8139408	8139408	G	A	CTC1	c.1045C>T	NM_025099.6	NP_079375.3:p.(Leu349Phe)	NC_000017.10:g.8139408G>A	VUS	1 lab	3a70763212
2:179442017 TTN C>T	2	179442017	179442017	C	T	TTN	c.69045G>A	NM_001267550.2	NP_001254479.2:p.(Ala23015=)	NC_000002.11:g.179442017C>T	(Likely) benign	1 lab	3a71419cbe
3:12632394 RAF1 C>T	3	12632394	12632394	C	T	RAF1	c.1273G>A	NM_002880.4	NP_002871.1:p.(Glu425Lys)	NC_000003.11:g.12632394C>T	VUS	1 lab	3a735a92c6
2:25457218 DNMT3A C>T	2	25457218	25457218	C	T	DNMT3A	c.2669G>A	NM_175629.2	NP_783328.1:p.(Gly890Asp)	NC_000002.11:g.25457218C>T	(Likely) pathogenic	1 lab	3a77e9ba7f
X:69669670 DLG3 G>A	X	69669670	69669670	G	A	DLG3	c.664G>A	NM_021120.4	NP_066943.2:p.(Glu222Lys)	NC_000023.10:g.69669670G>A	VUS	1 lab	3a8e5a2890
19:57742496 AURKC ACG>A	19	57742496	57742498	ACG	A	AURKC	c.-120_-119del	NM_001015878.2	NP_001015878.1:p.?	NC_000019.9:g.57742497_57742498del	(Likely) benign	1 lab	3a78aa1293
10:64936106 JMJD1C A>G	10	64936106	64936106	A	G	JMJD1C	c.7352T>C	NM_032776.3	NP_116165.1:p.(Ile2451Thr)	NC_000010.10:g.64936106A>G	VUS	1 lab	3a7af1fbea
11:1775187 CTSD GCCAGCC>G	11	1775187	1775213	GCCAGCC	G	CTSD	c.972+31_972+36del	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1775208_1775213del	(Likely) benign	1 lab	3a7d43e528
8:106814656 ZFPM2 G>C	8	106814656	106814656	G	C	ZFPM2	c.2346G>C	NM_012082.4	NP_036214.2:p.(Glu782Asp)	NC_000008.10:g.106814656G>C	(Likely) benign	1 lab	3a7e122621
19:36134500 ETV2 G>T	19	36134500	36134500	G	T	ETV2	c.560G>T	NM_014209.4	NP_055024.2:p.(Gly187Val)	NC_000019.9:g.36134500G>T	VUS	1 lab	3a87128764
22:29085257 CHEK2 A>G	22	29085257	29085257	A	G	CHEK2	c.1462-54T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085257A>G	(Likely) benign	1 lab	3a8bd2b2a0
17:11725283 DNAH9 A>G	17	11725283	11725283	A	G	DNAH9	c.8754A>G	NM_001372.4	NP_001363.2:p.(Ile2918Met)	NC_000017.10:g.11725283A>G	VUS	1 lab	3a8c0c1ec0
10:78880803 KCNMA1 A>G	10	78880803	78880803	A	G	KCNMA1	c.812T>C	NM_002247.4	NP_002238.2:p.(Leu271Ser)	NC_000010.10:g.78880803A>G	VUS	1 lab	3a961e8585
20:42788322 JPH2 T>G	20	42788322	42788322	T	G	JPH2	c.1105A>C	NM_020433.5	NP_065166.2:p.(Ser369Arg)	NC_000020.10:g.42788322T>G	VUS	1 lab	3aa2fc1cc4
12:12397316 LRP6 T>C	12	12397316	12397316	T	C	LRP6	c.329A>G	NM_002336.3	NP_002327.2:p.(Tyr110Cys)	NC_000012.11:g.12397316T>C	(Likely) pathogenic	1 lab	3aa554e363
10:95072818 MYOF A>T	10	95072818	95072818	A	T	MYOF	c.5848T>A	NM_013451.4	NP_038479.1:p.(Trp1950Arg)	NC_000010.10:g.95072818A>T	(Likely) benign	1 lab	3aa6b79f06
11:65482096 KAT5 G>A	11	65482096	65482096	G	A	KAT5	c.722G>A	NM_006388.4	NP_006379.2:p.(Arg241His)	NC_000011.9:g.65482096G>A	(Likely) benign	1 lab	3ab34fb16a
10:43615002 RET T>G	10	43615002	43615002	T	G	RET	c.2416T>G	NM_020975.6	NP_066124.1:p.(Tyr806Asp)	NC_000010.10:g.43615002T>G	(Likely) pathogenic	1 lab	3ab8e7f99f
5:41159344 C6 C>T	5	41159344	41159344	C	T	C6	c.1696G>A	NM_001115131.4	NP_001108603.2:p.(Gly566Arg)	NC_000005.9:g.41159344C>T	VUS	1 lab	3abcf85161
10:12139918 DHTKD1 C>T	10	12139918	12139918	C	T	DHTKD1	c.1594C>T	NM_018706.7	NP_061176.4:p.(Arg532Trp)	NC_000010.10:g.12139918C>T	VUS	1 lab	3ac10f7669
19:33878329 PEPD A>G	19	33878329	33878329	A	G	PEPD	c.1403T>C	NM_000285.4	NP_000276.2:p.(Val468Ala)	NC_000019.9:g.33878329A>G	VUS	1 lab	3ac121e990
1:223285538 TLR5 T>C	1	223285538	223285538	T	C	TLR5	c.836A>G	NM_003268.6	NP_003259.2:p.(Gln279Arg)	NC_000001.10:g.223285538T>C	VUS	1 lab	3acbbe11f9
9:101147922 GABBR2 G>A	9	101147922	101147922	G	A	GABBR2	c.1662C>T	NM_005458.8	NP_005449.5:p.(Thr554=)	NC_000009.11:g.101147922G>A	(Likely) benign	1 lab	3acd76cc9e
1:237813287 RYR2 C>T	1	237813287	237813287	C	T	RYR2	c.7623C>T	NM_001035.3	NP_001026.2:p.(His2541=)	NC_000001.10:g.237813287C>T	(Likely) benign	1 lab	3ace6a3320
2:160261565 BAZ2B G>A	2	160261565	160261565	G	A	BAZ2B	c.2630C>T	NM_001289975.1	NP_001276904.1:p.(Ala877Val)	NC_000002.11:g.160261565G>A	VUS	1 lab	3ad22dcbc4
20:2845948 VPS16 G>A	20	2845948	2845948	G	A	VPS16	c.2159G>A	NM_022575.4	NP_072097.2:p.(Arg720His)	NC_000020.10:g.2845948G>A	VUS	1 lab	3ad5ecd24b
15:91337485 BLM CAGG>C	15	91337485	91337490	CAGG	C	BLM	c.3111_3113del	NM_000057.4	NP_000048.1:p.(Arg1038del)	NC_000015.9:g.91337488_91337490del	VUS	1 lab	3ade3d8420
1:237608779 RYR2 C>G	1	237608779	237608779	C	G	RYR2	c.1249C>G	NM_001035.3	NP_001026.2:p.(Arg417Gly)	NC_000001.10:g.237608779C>G	VUS	1 lab	3ae23638f4
17:17700814 RAI1 C>T	17	17700814	17700814	C	T	RAI1	c.4552C>T	NM_030665.4	NP_109590.3:p.(Pro1518Ser)	NC_000017.10:g.17700814C>T	VUS	1 lab	3ae42bb3d7
8:99057569 RPL30 A>C	8	99057569	99057569	A	C	RPL30	c.21+6T>G	NM_000989.4	NP_000980.1:p.?	NC_000008.10:g.99057569A>C	VUS	1 lab	3ae83e8f3b
17:40841010 CNTNAP1 C>T	17	40841010	40841010	C	T	CNTNAP1	c.1573C>T	NM_003632.3	NP_003623.1:p.(Arg525Trp)	NC_000017.10:g.40841010C>T	VUS	1 lab	3aee35ae12
4:1803090 FGFR3 G>T	4	1803090	1803090	G	T	FGFR3	c.446-4G>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803090G>T	(Likely) benign	1 lab	3af4d5d230
15:66781570 MAP2K1 CAGTGG>C	15	66781570	66781579	CAGTGG	C	MAP2K1	c.983_987del	NM_002755.4	NP_002746.1:p.(Gly328ValfsTer11)	NC_000015.9:g.66781575_66781579del	VUS	1 lab	3af559ea3a
16:30977216 SETD1A C>T	16	30977216	30977216	C	T	SETD1A	c.2014C>T	NM_014712.3	NP_055527.1:p.(Gln672Ter)	NC_000016.9:g.30977216C>T	(Likely) pathogenic	1 lab	3b1da1aac0
11:45832342 SLC35C1 G>A	11	45832342	45832342	G	A	SLC35C1	c.551G>A	NM_018389.5	NP_060859.4:p.(Gly184Asp)	NC_000011.9:g.45832342G>A	(Likely) pathogenic	1 lab	3afd28c3f9
17:27869885 TAOK1 A>G	17	27869885	27869885	A	G	TAOK1	c.2851A>G	NM_020791.4	NP_065842.1:p.(Met951Val)	NC_000017.10:g.27869885A>G	(Likely) benign	1 lab	3b00d55ede
6:152589279 SYNE1 C>T	6	152589279	152589279	C	T	SYNE1	c.18727G>A	NM_182961.4	NP_892006.3:p.(Glu6243Lys)	NC_000006.11:g.152589279C>T	VUS	1 lab	3b0278d992
21:28296785 ADAMTS5 T>A	21	28296785	28296785	T	A	ADAMTS5	c.2380A>T	NM_007038.5	NP_008969.2:p.(Thr794Ser)	NC_000021.8:g.28296785T>A	VUS	1 lab	3b0351a243
2:25469987 DNMT3A C>T	2	25469987	25469987	C	T	DNMT3A	c.1055G>A	NM_175629.2	NP_783328.1:p.(Ser352Asn)	NC_000002.11:g.25469987C>T	(Likely) benign	1 lab	3b03922241
10:69970081 MYPN C>T	10	69970081	69970081	C	T	MYPN	c.2950C>T	NM_001256268.2	NP_001243197.1:p.(Arg984Trp)	NC_000010.10:g.69970081C>T	VUS	1 lab	3b05ef53b5
2:219204619 PNKD A>G	2	219204619	219204619	A	G	PNKD	c.350A>G	NM_015488.5	NP_056303.3:p.(Asn117Ser)	NC_000002.11:g.219204619A>G	(Likely) benign	1 lab	3b07ec1baa
10:69881318 MYPN T>C	10	69881318	69881318	T	C	MYPN	c.123T>C	NM_032578.4	NP_115967.2:p.(Pro41=)	NC_000010.10:g.69881318T>C	(Likely) benign	1 lab	3b08507b05
8:144911463 PUF60 G>C	8	144911463	144911463	G	C	PUF60	c.11C>G	NM_078480.3	NP_510965.1:p.(Ala4Gly)	NC_000008.10:g.144911463G>C	VUS	1 lab	3b093a871a
11:2712244 KCNQ1OT1 G>A	11	2712244	2712244	G	A	KCNQ1OT1	n.8985C>T	NR_002728.3		NC_000011.9:g.2712244G>A	VUS	1 lab	3b0de3074f
18:34047003 FHOD3 C>T	18	34047003	34047003	C	T	FHOD3	c.338-34892C>T	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34047003C>T	(Likely) benign	1 lab	3b0f5e9007
16:51174953 SALL1 G>A	16	51174953	51174953	G	A	SALL1	c.1180C>T	NM_002968.3	NP_002959.2:p.(Gln394Ter)	NC_000016.9:g.51174953G>A	(Likely) pathogenic	1 lab	3b1e7d2ef9
16:85704654 GSE1 C>T	16	85704654	85704654	C	T	GSE1	c.3157C>T	NM_001134473.3	NP_001127945.1:p.(Arg1053Trp)	NC_000016.9:g.85704654C>T	VUS	1 lab	3b1eb7dc65
4:9784303 DRD5 G>A	4	9784303	9784303	G	A	DRD5	c.650G>A	NM_000798.5	NP_000789.1:p.(Cys217Tyr)	NC_000004.11:g.9784303G>A	VUS	1 lab	3b1fac535b
2:197066110 HECW2 G>A	2	197066110	197066110	G	A	HECW2	c.4610C>T	NM_020760.4	NP_065811.1:p.(Ala1537Val)	NC_000002.11:g.197066110G>A	(Likely) benign	1 lab	3b25d2d34c
3:58104632 FLNB G>A	3	58104632	58104632	G	A	FLNB	c.2779G>A	NM_001457.4	NP_001448.2:p.(Asp927Asn)	NC_000003.11:g.58104632G>A	VUS	1 lab	3b2962df9b
12:57599230 LRP1 C>T	12	57599230	57599230	C	T	LRP1	c.11432C>T	NM_002332.3	NP_002323.2:p.(Ser3811Leu)	NC_000012.11:g.57599230C>T	VUS	1 lab	3b2b6ddda6
7:6035203 PMS2 ACTGT>A	7	6035203	6035215	ACTGT	A	PMS2	c.861_864del	NM_000535.7	NP_000526.2:p.(Arg287SerfsTer19)	NC_000007.13:g.6035212_6035215del	(Likely) pathogenic	1 lab	2e9858f943
9:138650330 KCNT1 C>A	9	138650330	138650330	C	A	KCNT1	c.830C>A	NM_020822.3	NP_065873.2:p.(Thr277Asn)	NC_000009.11:g.138650330C>A	(Likely) pathogenic	1 lab	3b2c97d6aa
2:179585879 TTN C>T	2	179585879	179585879	C	T	TTN	c.22867G>A	NM_001267550.2	NP_001254479.2:p.(Gly7623Arg)	NC_000002.11:g.179585879C>T	VUS	1 lab	3b2e859f0c
9:138683887 KCNT1 C>T	9	138683887	138683887	C	T	KCNT1	c.3588C>T	NM_020822.3	NP_065873.2:p.(Val1196=)	NC_000009.11:g.138683887C>T	(Likely) benign	1 lab	3b357b41a3
X:96171416 DIAPH2 GT>G	X	96171416	96171434	GT	G	DIAPH2	c.733-3del	NM_006729.5	NP_006720.1:p.?	NC_000023.10:g.96171434del	(Likely) benign	1 lab	3b3662c6ef
10:27459670 MASTL C>T	10	27459670	27459670	C	T	MASTL	c.1782C>T	NM_001172303.3	NP_001165774.1:p.(Ile594=)	NC_000010.10:g.27459670C>T	(Likely) benign	1 lab	3b3669b955
9:140705932 EHMT1 A>G	9	140705932	140705932	A	G	EHMT1	c.2732A>G	NM_024757.5	NP_079033.4:p.(His911Arg)	NC_000009.11:g.140705932A>G	(Likely) pathogenic	1 lab	3b36a66b74
16:4827883 SEPTIN12 G>GCCAGGTTCACCCAGCCGGGC	16	4827883	4827905	G	GCCAGGTTCACCCAGCCGGGC	SEPTIN12	c.972_991dup	NM_144605.5	NP_653206.2:p.(Ala331GlyfsTer5)	NC_000016.9:g.4827886_4827905dup	VUS	1 lab	3b384a98cd
22:23615941 BCR A>C	22	23615941	23615941	A	C	BCR	c.2095A>C	NM_004327.4	NP_004318.3:p.(Met699Leu)	NC_000022.10:g.23615941A>C	VUS	1 lab	3b38ffe0b4
5:82786003 VCAN C>T	5	82786003	82786003	C	T	VCAN	c.157C>T	NM_004385.5	NP_004376.2:p.(Pro53Ser)	NC_000005.9:g.82786003C>T	(Likely) benign	1 lab	3b3afa1300
20:52774698 CYP24A1 G>A	20	52774698	52774698	G	A	CYP24A1	c.1163C>T	NM_000782.5	NP_000773.2:p.(Thr388Met)	NC_000020.10:g.52774698G>A	VUS	1 lab	3b3b5d6f44
3:9483427 SETD5 T>A	3	9483427	9483427	T	A	SETD5	c.665+2T>A	NM_001292043.2	NP_001278972.1:p.?	NC_000003.11:g.9483427T>A	(Likely) pathogenic	1 lab	3b3b9484bd
4:186329171 UFSP2 G>T	4	186329171	186329171	G	T	UFSP2	c.1040C>A	NM_018359.5	NP_060829.2:p.(Ser347Ter)	NC_000004.11:g.186329171G>T	VUS	1 lab	3b3c8e00ff
2:179634455 TTN G>T	2	179634455	179634455	G	T	TTN	c.8853C>A	NM_001267550.2	NP_001254479.2:p.(Tyr2951Ter)	NC_000002.11:g.179634455G>T	(Likely) pathogenic	1 lab	3b3e1984d7
6:7571794 DSP C>T	6	7571794	7571794	C	T	DSP	c.1880C>T	NM_004415.4	NP_004406.2:p.(Pro627Leu)	NC_000006.11:g.7571794C>T	VUS	1 lab	3b411ca6f3
18:21124342 NPC1 A>G	18	21124342	21124342	A	G	NPC1	c.2096T>C	NM_000271.5	NP_000262.2:p.(Val699Ala)	NC_000018.9:g.21124342A>G	VUS	1 lab	3b415ea3ce
2:121746435 GLI2 C>T	2	121746435	121746435	C	T	GLI2	c.2945C>T	NM_005270.5	NP_005261.2:p.(Pro982Leu)	NC_000002.11:g.121746435C>T	VUS	1 lab	3b47d0db2c
17:7751801 KDM6B T>C	17	7751801	7751801	T	C	KDM6B	c.2195T>C	NM_001080424.2	NP_001073893.1:p.(Leu732Pro)	NC_000017.10:g.7751801T>C	(Likely) benign	1 lab	3b48c63cc4
14:91779528 CCDC88C G>A	14	91779528	91779528	G	A	CCDC88C	c.2632C>T	NM_001080414.4	NP_001073883.2:p.(Arg878Cys)	NC_000014.8:g.91779528G>A	VUS	1 lab	3b4b542849
1:12371674 VPS13D A>G	1	12371674	12371674	A	G	VPS13D	c.6814A>G	NM_015378.4	NP_056193.2:p.(Arg2272Gly)	NC_000001.10:g.12371674A>G	VUS	1 lab	3b4e22ae22
2:145162401 ZEB2 A>ACC	2	145162401	145162403	A	ACC	ZEB2	c.592_592+1dup	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145162402_145162403dup	(Likely) pathogenic	1 lab	3b53612053
2:197657761 GTF3C3 T>TTCC	2	197657761	197657784	T	TTCC	GTF3C3	c.327_329dup	NM_012086.5	NP_036218.1:p.(Glu111dup)	NC_000002.11:g.197657782_197657784dup	VUS	1 lab	3b56179896
18:21424984 LAMA3 A>G	18	21424984	21424984	A	G	LAMA3	c.3615A>G	NM_198129.4	NP_937762.2:p.(Leu1205=)	NC_000018.9:g.21424984A>G	(Likely) benign	1 lab	3b5b9a87c8
12:32884329 DNM1L G>A	12	32884329	32884329	G	A	DNM1L	c.1240G>A	NM_012062.5	NP_036192.2:p.(Glu414Lys)	NC_000012.11:g.32884329G>A	(Likely) pathogenic	1 lab	3b5e9f63a4
22:21800898 HIC2 C>T	22	21800898	21800898	C	T	HIC2	c.1714C>T	NM_015094.3	NP_055909.2:p.(Arg572Cys)	NC_000022.10:g.21800898C>T	VUS	1 lab	3b5f44728e
9:98209357 PTCH1 C>T	9	98209357	98209357	C	T	PTCH1	c.3983G>A	NM_001083602.3	NP_001077071.1:p.(Arg1328Gln)	NC_000009.11:g.98209357C>T	VUS	1 lab	3b6075eb90
1:39816626 MACF1 C>T	1	39816626	39816626	C	T	MACF1	c.4949C>T	NM_012090.5	NP_036222.3:p.(Thr1650Ile)	NC_000001.10:g.39816626C>T	(Likely) benign	1 lab	3b6a825a5c
12:52710757 KRT83 C>A	12	52710757	52710757	C	A	KRT83	c.801G>T	NM_002282.3	NP_002273.3:p.(Lys267Asn)	NC_000012.11:g.52710757C>A	VUS	1 lab	3b72e112fe
10:99190290 PGAM1 CAAT>C	10	99190290	99190295	CAAT	C	PGAM1	c.297_299del	NM_002629.4	NP_002620.1:p.(Asn99del)	NC_000010.10:g.99190293_99190295del	VUS	1 lab	3b757d5835
14:102470997 DYNC1H1 A>G	14	102470997	102470997	A	G	DYNC1H1	c.5026A>G	NM_001376.5	NP_001367.2:p.(Ile1676Val)	NC_000014.8:g.102470997A>G	VUS	1 lab	3b75efef3c
9:124074714 GSN G>A	9	124074714	124074714	G	A	GSN	c.764G>A	NM_000177.5	NP_000168.1:p.(Arg255Gln)	NC_000009.11:g.124074714G>A	VUS	1 lab	3b772e4804
2:179631339 TTN C>A	2	179631339	179631339	C	A	TTN	c.9472G>T	NM_001267550.2	NP_001254479.2:p.(Val3158Phe)	NC_000002.11:g.179631339C>A	VUS	1 lab	3b77846e78
7:100410526 EPHB4 G>A	7	100410526	100410526	G	A	EPHB4	c.1961C>T	NM_004444.5	NP_004435.3:p.(Thr654Met)	NC_000007.13:g.100410526G>A	(Likely) benign	1 lab	3b7cdc673f
12:57883673 MARS1 AC>A	12	57883673	57883674	AC	A	MARS1	c.415-5del	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57883674del	(Likely) benign	1 lab	3b7db24acb
3:124951498 ZNF148 C>T	3	124951498	124951498	C	T	ZNF148	c.2072G>A	NM_021964.3	NP_068799.2:p.(Gly691Asp)	NC_000003.11:g.124951498C>T	VUS	1 lab	3b7f4f030a
4:1902762 NSD2 A>AATC	4	1902762	1902766	A	AATC	NSD2	c.383_385dup	NM_133334.2	NP_579889.1:p.(Ile128dup)	NC_000004.11:g.1902764_1902766dup	VUS	1 lab	3b8230a42c
14:50600953 SOS2 A>G	14	50600953	50600953	A	G	SOS2	c.2963T>C	NM_006939.4	NP_008870.2:p.(Phe988Ser)	NC_000014.8:g.50600953A>G	VUS	1 lab	3b8cf5d9bf
11:67800494 NDUFS8 T>G	11	67800494	67800494	T	G	NDUFS8	c.199+15T>G	NM_002496.4	NP_002487.1:p.?	NC_000011.9:g.67800494T>G	(Likely) benign	1 lab	3b8e90c117
3:3182189 TRNT1 T>C	3	3182189	3182189	T	C	TRNT1	c.343-5T>C	NM_182916.3	NP_886552.3:p.?	NC_000003.11:g.3182189T>C	(Likely) benign	1 lab	3b97f5a495
2:234247508 SAG C>G	2	234247508	234247508	C	G	SAG	c.1022+109C>G	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234247508C>G	(Likely) benign	1 lab	3b992b3331
X:48546705 WAS C>G	X	48546705	48546705	C	G	WAS	c.794C>G	NM_000377.3	NP_000368.1:p.(Pro265Arg)	NC_000023.10:g.48546705C>G	VUS	1 lab	3b9b9dd2ad
2:113333296 POLR1B A>G	2	113333296	113333296	A	G	POLR1B	c.3398A>G	NM_019014.6	NP_061887.2:p.(Asp1133Gly)	NC_000002.11:g.113333296A>G	(Likely) benign	1 lab	3ba4b052f2
7:103416317 RELN T>C	7	103416317	103416317	T	C	RELN	c.544+687A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103416317T>C	(Likely) benign	1 lab	3ba8108fa6
2:189917750 COL5A2 A>C	2	189917750	189917750	A	C	COL5A2	c.2554-6T>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917750A>C	(Likely) benign	1 lab	3ba99cf27d
12:111772449 CUX2 C>T	12	111772449	111772449	C	T	CUX2	c.3131C>T	NM_015267.4	NP_056082.2:p.(Ser1044Phe)	NC_000012.11:g.111772449C>T	VUS	1 lab	3baf192aa7
16:1841935 IGFALS C>T	16	1841935	1841935	C	T	IGFALS	c.484G>A	NM_004970.3	NP_004961.1:p.(Glu162Lys)	NC_000016.9:g.1841935C>T	VUS	1 lab	3baf551fed
X:53579655 HUWE1 C>T	X	53579655	53579655	C	T	HUWE1	c.8694G>A	NM_031407.7	NP_113584.3:p.(Ala2898=)	NC_000023.10:g.53579655C>T	(Likely) benign	1 lab	3bb11ba3bd
X:21627677 CNKSR2 A>AGAG	X	21627677	21627700	A	AGAG	CNKSR2	c.2655_2657dup	NM_014927.5	NP_055742.2:p.(Glu886dup)	NC_000023.10:g.21627698_21627700dup	VUS	1 lab	3bb2e92323
1:197061156 ASPM GA>G	1	197061156	197061158	GA	G	ASPM	c.9324del	NM_018136.5	NP_060606.3:p.(Leu3109PhefsTer11)	NC_000001.10:g.197061158del	(Likely) pathogenic	1 lab	3bb31f88d6
1:7309624 CAMTA1 AAG>A	1	7309624	7309628	AAG	A	CAMTA1	c.379_380del	NM_015215.4	NP_056030.1:p.(Arg127GlufsTer152)	NC_000001.10:g.7309627_7309628del	(Likely) pathogenic	1 lab	3bba7b47f4
4:114277914 ANK2 G>A	4	114277914	114277914	G	A	ANK2	c.8140G>A	NM_001148.6	NP_001139.3:p.(Val2714Ile)	NC_000004.11:g.114277914G>A	VUS	1 lab	3bbdad6035
7:40102426 CDK13 C>T	7	40102426	40102426	C	T	CDK13	c.2602C>T	NM_003718.5	NP_003709.3:p.(Arg868Trp)	NC_000007.13:g.40102426C>T	VUS	1 lab	3bbf8b9a16
15:77322921 PSTPIP1 A>G	15	77322921	77322921	A	G	PSTPIP1	c.641A>G	NM_003978.5	NP_003969.2:p.(Glu214Gly)	NC_000015.9:g.77322921A>G	VUS	1 lab	3bc126f71f
3:47205396 SETD2 G>A	3	47205396	47205396	G	A	SETD2	c.19C>T	NM_014159.7	NP_054878.5:p.(Gln7Ter)	NC_000003.11:g.47205396G>A	VUS	1 lab	3bc5a039f1
2:182543455 NEUROD1 T>C	2	182543455	182543455	T	C	NEUROD1	c.133A>G	NM_002500.5	NP_002491.3:p.(Thr45Ala)	NC_000002.11:g.182543455T>C	(Likely) benign	1 lab	3bc6ffbcb8
12:10271070 CLEC7A T>G	12	10271070	10271070	T	G	CLEC7A	c.731A>C	NM_197947.3	NP_922938.1:p.(Lys244Thr)	NC_000012.11:g.10271070T>G	VUS	1 lab	3bcf92392d
1:2338019 PEX10 C>A	1	2338019	2338019	C	A	PEX10	c.876G>T	NM_153818.2	NP_722540.1:p.(Leu292=)	NC_000001.10:g.2338019C>A	(Likely) benign	1 lab	3bd68f5b69
2:219754991 WNT10A G>A	2	219754991	219754991	G	A	WNT10A	c.662G>A	NM_025216.3	NP_079492.2:p.(Gly221Glu)	NC_000002.11:g.219754991G>A	VUS	1 lab	3bdeca8c9c
10:89720801 PTEN CT>C	10	89720801	89720803	CT	C	PTEN	c.363del	NM_001304718.2	NP_001291647.1:p.(Thr122LeufsTer2)	NC_000010.10:g.89720803del	(Likely) pathogenic	1 lab	3be7a3de77
3:38603943 SCN5A C>T	3	38603943	38603943	C	T	SCN5A	c.3926G>A	NM_198056.3	NP_932173.1:p.(Arg1309His)	NC_000003.11:g.38603943C>T	(Likely) pathogenic	1 lab	3be83e2832
10:71129368 HK1 C>T	10	71129368	71129368	C	T	HK1	c.863C>T	NM_000188.3	NP_000179.2:p.(Pro288Leu)	NC_000010.10:g.71129368C>T	VUS	1 lab	3be9195c61
17:1619929 WDR81 T>G	17	1619929	1619929	T	G	WDR81	c.-124+2T>G	NM_152348.4	NP_689561.2:p.?	NC_000017.10:g.1619929T>G	VUS	1 lab	3bea09c295
17:41245410 BRCA1 G>T	17	41245410	41245410	G	T	BRCA1	c.2138C>A	NM_007294.4	NP_009225.1:p.(Ser713Ter)	NC_000017.10:g.41245410G>T	(Likely) pathogenic	1 lab	3bf1e4a47d
16:85952280 IRF8 G>A	16	85952280	85952280	G	A	IRF8	c.859G>A	NM_002163.4	NP_002154.1:p.(Val287Met)	NC_000016.9:g.85952280G>A	VUS	1 lab	3bf415895f
9:130980572 DNM1 A>G	9	130980572	130980572	A	G	DNM1	c.224A>G	NM_004408.4	NP_004399.2:p.(Asn75Ser)	NC_000009.11:g.130980572A>G	(Likely) benign	1 lab	3bf4d8ba60
17:41244100 BRCA1 G>A	17	41244100	41244100	G	A	BRCA1	c.3448C>T	NM_007294.4	NP_009225.1:p.(Pro1150Ser)	NC_000017.10:g.41244100G>A	(Likely) benign	1 lab	3bf5be278c
7:83037751 SEMA3E C>A	7	83037751	83037751	C	A	SEMA3E	c.603G>T	NM_012431.3	NP_036563.1:p.(Ala201=)	NC_000007.13:g.83037751C>A	(Likely) benign	1 lab	3bf8f79803
1:26795513 DHDDS G>C	1	26795513	26795513	G	C	DHDDS	c.896G>C	NM_024887.4	NP_079163.2:p.(Arg299Pro)	NC_000001.10:g.26795513G>C	VUS	1 lab	3c092b16be
2:179559384 TTN C>G	2	179559384	179559384	C	G	TTN	c.31368G>C	NM_001267550.2	NP_001254479.2:p.(Lys10456Asn)	NC_000002.11:g.179559384C>G	VUS	1 lab	3c0a372950
2:71012734 FIGLA C>G	2	71012734	71012734	C	G	FIGLA	c.422G>C	NM_001004311.3	NP_001004311.2:p.(Ser141Thr)	NC_000002.11:g.71012734C>G	(Likely) benign	1 lab	3c0b0150ee
1:100336361 AGL C>T	1	100336361	100336361	C	T	AGL	c.894C>T	NM_000028.2	NP_000019.2:p.(Leu298=)	NC_000001.10:g.100336361C>T	(Likely) benign	1 lab	3c106153a1
18:32459678 DTNA C>T	18	32459678	32459678	C	T	DTNA	c.1917C>T	NM_001198939.2	NP_001185868.1:p.(Gly639=)	NC_000018.9:g.32459678C>T	(Likely) benign	1 lab	3c1455368b
17:37933903 IKZF3 C>G	17	37933903	37933903	C	G	IKZF3	c.826+1G>C	NM_012481.5	NP_036613.2:p.?	NC_000017.10:g.37933903C>G	VUS	1 lab	3c15e362ac
22:42456921 NAGA T>G	22	42456921	42456921	T	G	NAGA	c.1101+7A>C	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42456921T>G	(Likely) benign	1 lab	3c1b2838b1
14:23893268 MYH7 C>G	14	23893268	23893268	C	G	MYH7	c.2770G>C	NM_000257.4	NP_000248.2:p.(Glu924Gln)	NC_000014.8:g.23893268C>G	VUS	1 lab	3c21db3a5d
18:55238650 FECH A>T	18	55238650	55238650	A	T	FECH	c.455T>A	NM_001012515.4	NP_001012533.1:p.(Leu152Gln)	NC_000018.9:g.55238650A>T	VUS	1 lab	3c24b92011
3:47164241 SETD2 T>C	3	47164241	47164241	T	C	SETD2	c.1885A>G	NM_014159.7	NP_054878.5:p.(Lys629Glu)	NC_000003.11:g.47164241T>C	(Likely) benign	1 lab	3c25d37853
4:123192240 BLTP1 A>C	4	123192240	123192240	A	C	BLTP1	c.7561A>C	NM_015312.4	NP_056127.2:p.(Ser2521Arg)	NC_000004.11:g.123192240A>C	(Likely) benign	1 lab	3c26d6a7f0
1:10700023 CASZ1 G>T	1	10700023	10700023	G	T	CASZ1	c.4256C>A	NM_001079843.3	NP_001073312.1:p.(Ala1419Glu)	NC_000001.10:g.10700023G>T	VUS	1 lab	3c279adafe
14:23894608 MYH7 A>G	14	23894608	23894608	A	G	MYH7	c.2306T>C	NM_000257.4	NP_000248.2:p.(Leu769Pro)	NC_000014.8:g.23894608A>G	(Likely) pathogenic	1 lab	3c28fbbfae
21:28315840 ADAMTS5 C>T	21	28315840	28315840	C	T	ADAMTS5	c.1264G>A	NM_007038.5	NP_008969.2:p.(Asp422Asn)	NC_000021.8:g.28315840C>T	VUS	1 lab	3c29445a86
6:32800224 TAP2 C>A	6	32800224	32800224	C	A	TAP2	c.1158G>T	NM_001290043.2	NP_001276972.1:p.(Gly386=)	NC_000006.11:g.32800224C>A	(Likely) benign	1 lab	3c2ba07269
20:9288522 PLCB4 G>A	20	9288522	9288522	G	A	PLCB4	c.61G>A	NM_001172646.2	NP_001166117.1:p.(Ala21Thr)	NC_000020.10:g.9288522G>A	(Likely) benign	1 lab	3c305aaad8
18:12371588 AFG3L2 T>C	18	12371588	12371588	T	C	AFG3L2	c.214+3A>G	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12371588T>C	VUS	1 lab	3c3682321c
18:47518708 MYO5B C>T	18	47518708	47518708	C	T	MYO5B	c.706G>A	NM_001080467.3	NP_001073936.1:p.(Gly236Arg)	NC_000018.9:g.47518708C>T	VUS	1 lab	3c38872bd3
7:73663453 RFC2 G>A	7	73663453	73663453	G	A	RFC2	c.226-5C>T	NM_181471.3	NP_852136.1:p.?	NC_000007.13:g.73663453G>A	(Likely) benign	1 lab	3c390c7701
2:121726317 GLI2 C>T	2	121726317	121726317	C	T	GLI2	c.671C>T	NM_005270.5	NP_005261.2:p.(Thr224Met)	NC_000002.11:g.121726317C>T	(Likely) benign	1 lab	3c3bd552a4
3:42166936 TRAK1 C>T	3	42166936	42166936	C	T	TRAK1	c.116C>T	NM_001042646.3	NP_001036111.1:p.(Pro39Leu)	NC_000003.11:g.42166936C>T	VUS	1 lab	3c3d6e2eed
12:53069222 KRT1 CACCTCCGGAGCCGTAGCTGCT>C	12	53069222	53069255	CACCTCCGGAGCCGTAGCTGCT	C	KRT1	c.1669_1689del	NM_006121.4	NP_006112.3:p.(Ser557_Gly563del)	NC_000012.11:g.53069235_53069255del	(Likely) benign	1 lab	3c403c0556
16:9009352 USP7 C>T	16	9009352	9009352	C	T	USP7	c.937G>A	NM_003470.3	NP_003461.2:p.(Gly313Ser)	NC_000016.9:g.9009352C>T	VUS	1 lab	3c413f7766
12:103352171 PAH CGCAGCAGCAGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCAGCAGCAGCA	C	PAH	c.-312_-295del	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352191_103352208del	(Likely) benign	1 lab	3c445a3343
20:35526858 SAMHD1 C>G	20	35526858	35526858	C	G	SAMHD1	c.1593G>C	NM_015474.4	NP_056289.2:p.(Arg531Ser)	NC_000020.10:g.35526858C>G	VUS	1 lab	3c4bdaed68
2:160287463 BAZ2B C>T	2	160287463	160287463	C	T	BAZ2B	c.2099G>A	NM_001289975.1	NP_001276904.1:p.(Gly700Asp)	NC_000002.11:g.160287463C>T	VUS	1 lab	3c5c244f15
3:15677014 BTD A>G	3	15677014	15677014	A	G	BTD	c.68A>G	NM_001370658.1	NP_001357587.1:p.(His23Arg)	NC_000003.11:g.15677014A>G	(Likely) benign	1 lab	3c5eff3190
3:136068024 STAG1 G>A	3	136068024	136068024	G	A	STAG1	c.3247C>T	NM_005862.3	NP_005853.2:p.(Pro1083Ser)	NC_000003.11:g.136068024G>A	VUS	1 lab	3c601a6539
1:228505421 OBSCN A>T	1	228505421	228505421	A	T	OBSCN	c.13818A>T	NM_052843.4	NP_443075.3:p.(Glu4606Asp)	NC_000001.10:g.228505421A>T	VUS	1 lab	3c64e8885a
1:228509917 OBSCN TG>T	1	228509917	228509918	TG	T	OBSCN	c.15373+3del	NM_052843.4	NP_443075.3:p.?	NC_000001.10:g.228509918del	VUS	1 lab	3c67091490
1:16354394 CLCNKA C>T	1	16354394	16354394	C	T	CLCNKA	c.860C>T	NM_004070.4	NP_004061.3:p.(Ala287Val)	NC_000001.10:g.16354394C>T	(Likely) benign	1 lab	3c67827735
9:35657752 RMRP C>T	9	35657752	35657752	C	T	RMRP	n.264G>A	NR_003051.3		NC_000009.11:g.35657752C>T	(Likely) benign	1 lab	3c68d717f4
4:85594032 WDFY3 G>A	4	85594032	85594032	G	A	WDFY3	c.10570C>T	NM_014991.6	NP_055806.2:p.(Arg3524Ter)	NC_000004.11:g.85594032G>A	VUS	1 lab	3c6c2bea0a
11:533838 HRAS C>T	11	533838	533838	C	T	HRAS	c.218G>A	NM_176795.5	NP_789765.1:p.(Arg73His)	NC_000011.9:g.533838C>T	VUS	1 lab	3c6e2d5202
X:48545323 WAS T>C	X	48545323	48545323	T	C	WAS	c.713T>C	NM_000377.3	NP_000368.1:p.(Ile238Thr)	NC_000023.10:g.48545323T>C	(Likely) pathogenic	1 lab	3c6f58f329
1:236924382 ACTN2 A>C	1	236924382	236924382	A	C	ACTN2	c.2435A>C	NM_001103.4	NP_001094.1:p.(Gln812Pro)	NC_000001.10:g.236924382A>C	VUS	1 lab	3c6fa62073
1:120483315 NOTCH2 C>T	1	120483315	120483315	C	T	NOTCH2	c.3046G>A	NM_024408.4	NP_077719.2:p.(Gly1016Ser)	NC_000001.10:g.120483315C>T	VUS	1 lab	3c708eac94
6:143093697 HIVEP2 C>T	6	143093697	143093697	C	T	HIVEP2	c.2179G>A	NM_006734.4	NP_006725.3:p.(Asp727Asn)	NC_000006.11:g.143093697C>T	(Likely) benign	1 lab	3c7284c544
6:32632770 HLA-DQB1 A>G	6	32632770	32632770	A	G	HLA-DQB1	c.184T>C	NM_001243961.2	NP_001230890.1:p.(Tyr62His)	NC_000006.11:g.32632770A>G	(Likely) benign	1 lab	3c78be63a3
X:153784360 IKBKG A>G	X	153784360	153784360	A	G	IKBKG	c.188-20A>G	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153784360A>G	(Likely) benign	1 lab	3c7ea86092
3:46902467 MYL3 G>A	3	46902467	46902467	G	A	MYL3	c.140C>T	NM_000258.3	NP_000249.1:p.(Thr47Ile)	NC_000003.11:g.46902467G>A	VUS	1 lab	3c806424ea
2:179403903 TTN C>T	2	179403903	179403903	C	T	TTN	c.98759G>A	NM_001267550.2	NP_001254479.2:p.(Arg32920Gln)	NC_000002.11:g.179403903C>T	VUS	1 lab	3c86dc05e3
16:1841710 IGFALS C>T	16	1841710	1841710	C	T	IGFALS	c.709G>A	NM_004970.3	NP_004961.1:p.(Val237Met)	NC_000016.9:g.1841710C>T	VUS	1 lab	3c8a5bea8a
20:50407509 SALL4 C>T	20	50407509	50407509	C	T	SALL4	c.1513G>A	NM_020436.5	NP_065169.1:p.(Gly505Ser)	NC_000020.10:g.50407509C>T	(Likely) benign	1 lab	3c8c85f6d6
1:36367556 AGO1 A>T	1	36367556	36367556	A	T	AGO1	c.1148A>T	NM_012199.5	NP_036331.1:p.(Asn383Ile)	NC_000001.10:g.36367556A>T	VUS	1 lab	3c8ca7dcc1
2:179457556 TTN C>T	2	179457556	179457556	C	T	TTN	c.59290G>A	NM_001267550.2	NP_001254479.2:p.(Gly19764Ser)	NC_000002.11:g.179457556C>T	VUS	1 lab	3c9aa7f3ba
3:37090052 MLH1 GC>G	3	37090052	37090057	GC	G	MLH1	c.1946del	NM_000249.4	NP_000240.1:p.(Pro649LeufsTer12)	NC_000003.11:g.37090057del	(Likely) pathogenic	1 lab	3ca0cda1ef
8:100205243 VPS13B G>A	8	100205243	100205243	G	A	VPS13B	c.2473G>A	NM_017890.5	NP_060360.3:p.(Ala825Thr)	NC_000008.10:g.100205243G>A	(Likely) benign	1 lab	3ca1644043
20:49508168 ADNP CAT>C	20	49508168	49508170	CAT	C	ADNP	c.3081_3082del	NM_015339.5	NP_056154.1:p.(Trp1028GlufsTer3)	NC_000020.10:g.49508169_49508170del	(Likely) pathogenic	1 lab	3ca2ea5868
1:161059056 NECTIN4 C>A	1	161059056	161059056	C	A	NECTIN4	c.31G>T	NM_030916.3	NP_112178.2:p.(Gly11Trp)	NC_000001.10:g.161059056C>A	VUS	1 lab	3ca481b29f
12:113349067 OAS1 G>T	12	113349067	113349067	G	T	OAS1	c.654+27G>T	NM_016816.4	NP_058132.2:p.?	NC_000012.11:g.113349067G>T	(Likely) benign	1 lab	3ca90e33a7
6:44269817 AARS2 G>A	6	44269817	44269817	G	A	AARS2	c.2578C>T	NM_020745.4	NP_065796.2:p.(Arg860Cys)	NC_000006.11:g.44269817G>A	VUS	1 lab	3cb3d7128b
10:43609995 RET G>A	10	43609995	43609995	G	A	RET	c.1947G>A	NM_020975.6	NP_066124.1:p.(Ser649=)	NC_000010.10:g.43609995G>A	(Likely) pathogenic	1 lab	3cb667356e
4:153244137 FBXW7 G>A	4	153244137	153244137	G	A	FBXW7	c.2020C>T	NM_033632.3	NP_361014.1:p.(Arg674Trp)	NC_000004.11:g.153244137G>A	(Likely) pathogenic	1 lab	3cb6f30698
1:154562778 ADAR A>G	1	154562778	154562778	A	G	ADAR	c.2378T>C	NM_001111.5	NP_001102.3:p.(Ile793Thr)	NC_000001.10:g.154562778A>G	VUS	1 lab	3cbaf1ff67
17:39724810 KRT9 G>A	17	39724810	39724810	G	A	KRT9	c.1120C>T	NM_000226.4	NP_000217.2:p.(Arg374Trp)	NC_000017.10:g.39724810G>A	(Likely) benign	1 lab	3cbdba5d95
12:49427615 KMT2D G>T	12	49427615	49427615	G	T	KMT2D	c.10873C>A	NM_003482.4	NP_003473.3:p.(Pro3625Thr)	NC_000012.11:g.49427615G>T	VUS	1 lab	3cc5fb7e36
19:36212333 KMT2B C>T	19	36212333	36212333	C	T	KMT2B	c.2084C>T	NM_014727.3	NP_055542.1:p.(Ala695Val)	NC_000019.9:g.36212333C>T	VUS	1 lab	3ccbd90987
19:55663193 TNNI3 CA>C	19	55663193	55663194	CA	C	TNNI3	c.*8del	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55663194del	VUS	1 lab	3ccfdd8bb0
2:179594954 TTN C>T	2	179594954	179594954	C	T	TTN	c.18173G>A	NM_001267550.2	NP_001254479.2:p.(Arg6058His)	NC_000002.11:g.179594954C>T	VUS	1 lab	3cd6dcb939
4:5667297 EVC2 A>G	4	5667297	5667297	A	G	EVC2	c.950T>C	NM_147127.5	NP_667338.3:p.(Leu317Pro)	NC_000004.11:g.5667297A>G	VUS	1 lab	3cded8b24e
2:74274219 TET3 C>T	2	74274219	74274219	C	T	TET3	c.1175C>T	NM_001287491.2	NP_001274420.1:p.(Ala392Val)	NC_000002.11:g.74274219C>T	VUS	1 lab	3ce35bade8
19:6690698 C3 G>A	19	6690698	6690698	G	A	C3	c.3431C>T	NM_000064.4	NP_000055.2:p.(Thr1144Met)	NC_000019.9:g.6690698G>A	VUS	1 lab	3ce4b77e3a
14:50597293 SOS2 G>A	14	50597293	50597293	G	A	SOS2	c.3263C>T	NM_006939.4	NP_008870.2:p.(Thr1088Ile)	NC_000014.8:g.50597293G>A	VUS	1 lab	3ce53348b5
1:6206416 CHD5 G>A	1	6206416	6206416	G	A	CHD5	c.1658C>T	NM_015557.3	NP_056372.1:p.(Pro553Leu)	NC_000001.10:g.6206416G>A	(Likely) benign	1 lab	3ce826f544
7:98786000 KPNA7 G>T	7	98786000	98786000	G	T	KPNA7	c.823C>A	NM_001145715.3	NP_001139187.1:p.(Arg275Ser)	NC_000007.13:g.98786000G>T	VUS	1 lab	3cea2c9555
16:85691125 GSE1 C>A	16	85691125	85691125	C	A	GSE1	c.1555C>A	NM_014615.5	NP_055430.1:p.(Arg519=)	NC_000016.9:g.85691125C>A	(Likely) benign	1 lab	3cfd53b27a
17:7804196 CHD3 G>C	17	7804196	7804196	G	C	CHD3	c.3182G>C	NM_001005271.3	NP_001005271.2:p.(Arg1061Pro)	NC_000017.10:g.7804196G>C	VUS	1 lab	3d02a2f1ae
16:23647104 PALB2 CTGAT>C	16	23647104	23647108	CTGAT	C	PALB2	c.759_762del	NM_024675.4	NP_078951.2:p.(Ser254IlefsTer24)	NC_000016.9:g.23647105_23647108del	(Likely) pathogenic	1 lab	3d065ae63b
X:73641744 SLC16A2 G>T	X	73641744	73641744	G	T	SLC16A2	c.272G>T	NM_006517.5	NP_006508.2:p.(Gly91Val)	NC_000023.10:g.73641744G>T	VUS	1 lab	3d08838dee
7:151845766 KMT2C G>A	7	151845766	151845766	G	A	KMT2C	c.13246C>T	NM_170606.3	NP_733751.2:p.(Pro4416Ser)	NC_000007.13:g.151845766G>A	(Likely) benign	1 lab	3d08b0194f
15:57924639 MYZAP C>T	15	57924639	57924639	C	T	MYZAP	c.686C>T	NM_001018100.5	NP_001018110.1:p.(Ser229Leu)	NC_000015.9:g.57924639C>T	VUS	1 lab	3d094d57f4
7:2962827 CARD11 G>A	7	2962827	2962827	G	A	CARD11	c.2081C>T	NM_032415.7	NP_115791.3:p.(Ser694Leu)	NC_000007.13:g.2962827G>A	VUS	1 lab	3d0b2468d3
9:140002187 MAN1B1 C>T	9	140002187	140002187	C	T	MAN1B1	c.1896+73C>T	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.140002187C>T	(Likely) benign	1 lab	3d0b5259e5
12:65604704 LEMD3 A>G	12	65604704	65604704	A	G	LEMD3	c.1523-2A>G	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65604704A>G	(Likely) pathogenic	1 lab	3d0e44c0e5
12:125455897 DHX37 G>A	12	125455897	125455897	G	A	DHX37	c.1142C>T	NM_032656.4	NP_116045.2:p.(Thr381Met)	NC_000012.11:g.125455897G>A	VUS	1 lab	3d12983fe9
10:92678724 ANKRD1 T>A	10	92678724	92678724	T	A	ANKRD1	c.351A>T	NM_014391.3	NP_055206.2:p.(Glu117Asp)	NC_000010.10:g.92678724T>A	VUS	1 lab	3d15859e1e
1:35227553 GJB4 C>T	1	35227553	35227553	C	T	GJB4	c.698C>T	NM_153212.3	NP_694944.1:p.(Thr233Met)	NC_000001.10:g.35227553C>T	(Likely) benign	1 lab	3d1f22ce87
9:135204172 SETX A>G	9	135204172	135204172	A	G	SETX	c.2813T>C	NM_001351527.2	NP_001338456.1:p.(Leu938Ser)	NC_000009.11:g.135204172A>G	VUS	1 lab	3d244b90c2
17:1639381 WDR81 C>G	17	1639381	1639381	C	G	WDR81	c.5374C>G	NM_001163809.2	NP_001157281.1:p.(Leu1792Val)	NC_000017.10:g.1639381C>G	VUS	1 lab	3d254a5a1b
11:6637927 TPP1 C>A	11	6637927	6637927	C	A	TPP1	c.851G>T	NM_000391.4	NP_000382.3:p.(Gly284Val)	NC_000011.9:g.6637927C>A	(Likely) pathogenic	1 lab	3d2845b7af
1:152282884 FLG G>C	1	152282884	152282884	G	C	FLG	c.4478C>G	NM_002016.2	NP_002007.1:p.(Pro1493Arg)	NC_000001.10:g.152282884G>C	VUS	1 lab	3d29743b48
19:42796277 CIC G>A	19	42796277	42796277	G	A	CIC	c.2926G>A	NM_015125.5	NP_055940.3:p.(Gly976Ser)	NC_000019.9:g.42796277G>A	(Likely) benign	1 lab	3d2a0a9223
2:179476001 TTN G>GT	2	179476001	179476002	G	GT	TTN	c.50858-4dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179476002dup	(Likely) benign	1 lab	3d2a204271
18:21492734 LAMA3 C>T	18	21492734	21492734	C	T	LAMA3	c.7218C>T	NM_198129.4	NP_937762.2:p.(Asp2406=)	NC_000018.9:g.21492734C>T	(Likely) benign	1 lab	3d301b6353
17:38975327 KRT10 TGGCCGCCGCCGG>T	17	38975327	38975339	TGGCCGCCGCCGG	T	KRT10	c.1448_1459del	NM_000421.5	NP_000412.4:p.(Ser483_His487delinsTyr)	NC_000017.10:g.38975328_38975339del	(Likely) benign	1 lab	3d358206e9
18:32470277 DTNA C>G	18	32470277	32470277	C	G	DTNA	c.2048C>G	NM_001198938.2	NP_001185867.1:p.(Thr683Ser)	NC_000018.9:g.32470277C>G	VUS	1 lab	3d36c27710
19:48945583 GRIN2D C>G	19	48945583	48945583	C	G	GRIN2D	c.2617C>G	NM_000836.4	NP_000827.2:p.(Leu873Val)	NC_000019.9:g.48945583C>G	VUS	1 lab	3d37b8053d
7:91674410 AKAP9 C>T	7	91674410	91674410	C	T	AKAP9	c.5251C>T	NM_005751.5	NP_005742.4:p.(Arg1751Cys)	NC_000007.13:g.91674410C>T	VUS	1 lab	3d383be377
12:22089452 ABCC9 T>C	12	22089452	22089452	T	C	ABCC9	c.142+15A>G	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22089452T>C	(Likely) benign	1 lab	3d3a863225
5:149826526 RPS14 C>T	5	149826526	149826526	C	T	RPS14	c.150G>A	NM_001025071.2	NP_001020242.1:p.(Lys50=)	NC_000005.9:g.149826526C>T	(Likely) benign	1 lab	3d3c149d53
19:11132404 SMARCA4 C>T	19	11132404	11132404	C	T	SMARCA4	c.2620C>T	NM_001128849.3	NP_001122321.1:p.(Arg874Cys)	NC_000019.9:g.11132404C>T	VUS	1 lab	3d3e5df5d4
10:95109633 MYOF C>T	10	95109633	95109633	C	T	MYOF	c.4015G>A	NM_013451.4	NP_038479.1:p.(Glu1339Lys)	NC_000010.10:g.95109633C>T	(Likely) benign	1 lab	3d409eec20
14:105411416 AHNAK2 C>T	14	105411416	105411416	C	T	AHNAK2	c.10372G>A	NM_138420.4	NP_612429.2:p.(Asp3458Asn)	NC_000014.8:g.105411416C>T	VUS	1 lab	3d42448a35
6:33405772 SYNGAP1 C>G	6	33405772	33405772	C	G	SYNGAP1	c.1090C>G	NM_006772.3	NP_006763.2:p.(Pro364Ala)	NC_000006.11:g.33405772C>G	VUS	1 lab	3d43eea34e
7:44281299 CAMK2B C>A	7	44281299	44281299	C	A	CAMK2B	c.903G>T	NM_001220.5	NP_001211.3:p.(Lys301Asn)	NC_000007.13:g.44281299C>A	(Likely) pathogenic	1 lab	3d473bb442
4:57335814 SRP72 T>G	4	57335814	57335814	T	G	SRP72	c.110-5T>G	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57335814T>G	(Likely) benign	1 lab	3d4ff83d08
1:1720564 GNB1 C>T	1	1720564	1720564	C	T	GNB1	c.844G>A	NM_002074.5	NP_002065.1:p.(Gly282Arg)	NC_000001.10:g.1720564C>T	VUS	1 lab	3d537cafb0
X:31200832 DMD AT>A	X	31200832	31200842	AT	A	DMD	c.9974+22del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31200842del	(Likely) benign	1 lab	3d545d36e6
7:107188596 COG5 T>C	7	107188596	107188596	T	C	COG5	c.377A>G	NM_001161520.2	NP_001154992.2:p.(Asn126Ser)	NC_000007.13:g.107188596T>C	VUS	1 lab	3d5525b1ba
19:48901931 GRIN2D G>A	19	48901931	48901931	G	A	GRIN2D	c.282G>A	NM_000836.4	NP_000827.2:p.(Ser94=)	NC_000019.9:g.48901931G>A	(Likely) benign	1 lab	3d56be273e
18:29178628 TTR C>T	18	29178628	29178628	C	T	TTR	c.434C>T	NM_000371.4	NP_000362.1:p.(Pro145Leu)	NC_000018.9:g.29178628C>T	VUS	1 lab	3d578a3281
10:69934161 MYPN A>G	10	69934161	69934161	A	G	MYPN	c.2312A>G	NM_032578.4	NP_115967.2:p.(Gln771Arg)	NC_000010.10:g.69934161A>G	VUS	1 lab	3d5856bc1b
3:52021194 ACY1 G>A	3	52021194	52021194	G	A	ACY1	c.689G>A	NM_000666.3	NP_000657.1:p.(Arg230Gln)	NC_000003.11:g.52021194G>A	VUS	1 lab	3d5ab16d93
5:1255468 TERT A>G	5	1255468	1255468	A	G	TERT	c.3091T>C	NM_198253.3	NP_937983.2:p.(Phe1031Leu)	NC_000005.9:g.1255468A>G	VUS	1 lab	3d6156f3ad
4:102019646 PPP3CA C>T	4	102019646	102019646	C	T	PPP3CA	c.520G>A	NM_000944.5	NP_000935.1:p.(Val174Ile)	NC_000004.11:g.102019646C>T	(Likely) benign	1 lab	3d62b6a3ad
2:121747014 GLI2 A>G	2	121747014	121747014	A	G	GLI2	c.3524A>G	NM_005270.5	NP_005261.2:p.(Gln1175Arg)	NC_000002.11:g.121747014A>G	VUS	1 lab	3d6694b100
17:48272055 COL1A1 C>T	17	48272055	48272055	C	T	COL1A1	c.1461+27G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272055C>T	(Likely) benign	1 lab	3ddc0ccca4
2:198267770 SF3B1 G>GAA	2	198267770	198267774	G	GAA	SF3B1	c.1720-13_1720-12dup	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198267773_198267774dup	(Likely) benign	1 lab	3d782fc536
6:15513524 JARID2 C>A	6	15513524	15513524	C	A	JARID2	c.3321C>A	NM_004973.4	NP_004964.2:p.(Ser1107=)	NC_000006.11:g.15513524C>A	VUS	1 lab	3d7a117a87
7:50611655 DDC A>G	7	50611655	50611655	A	G	DDC	c.129T>C	NM_001082971.2	NP_001076440.2:p.(Pro43=)	NC_000007.13:g.50611655A>G	(Likely) benign	1 lab	3d7f4c66b3
16:4848622 ROGDI A>G	16	4848622	4848622	A	G	ROGDI	c.479T>C	NM_024589.3	NP_078865.1:p.(Leu160Pro)	NC_000016.9:g.4848622A>G	VUS	1 lab	3d7f643240
17:41246152 BRCA1 G>C	17	41246152	41246152	G	C	BRCA1	c.1396C>G	NM_007294.4	NP_009225.1:p.(Arg466Gly)	NC_000017.10:g.41246152G>C	(Likely) benign	1 lab	3d7ff1f11c
2:26416647 HADHA C>T	2	26416647	26416647	C	T	HADHA	c.1690-6G>A	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26416647C>T	(Likely) benign	1 lab	3d83109d70
1:45307506 PTCH2 G>A	1	45307506	45307506	G	A	PTCH2	c.265+13C>T	NM_001166292.2	NP_001159764.1:p.?	NC_000001.10:g.45307506G>A	(Likely) benign	1 lab	3d8a959f5b
1:236912481 ACTN2 G>T	1	236912481	236912481	G	T	ACTN2	c.949G>T	NM_001278344.2	NP_001265273.1:p.(Ala317Ser)	NC_000001.10:g.236912481G>T	VUS	1 lab	3d8c434e16
2:1983321 MYT1L C>T	2	1983321	1983321	C	T	MYT1L	c.61G>A	NM_015025.4	NP_055840.2:p.(Val21Met)	NC_000002.11:g.1983321C>T	(Likely) benign	1 lab	3d91f1ff0c
1:35227226 GJB4 G>A	1	35227226	35227226	G	A	GJB4	c.371G>A	NM_153212.3	NP_694944.1:p.(Arg124Gln)	NC_000001.10:g.35227226G>A	(Likely) benign	1 lab	3d932d0328
3:48612852 COL7A1 C>A	3	48612852	48612852	C	A	COL7A1	c.6100G>T	NM_000094.4	NP_000085.1:p.(Gly2034Trp)	NC_000003.11:g.48612852C>A	(Likely) pathogenic	1 lab	3d932f2be8
7:50467869 IKZF1 C>A	7	50467869	50467869	C	A	IKZF1	c.1104C>A	NM_006060.6	NP_006051.1:p.(Ser368Arg)	NC_000007.13:g.50467869C>A	(Likely) benign	1 lab	3d987f7d8b
5:36105254 LMBRD2 C>T	5	36105254	36105254	C	T	LMBRD2	c.1943G>A	NM_001007527.2	NP_001007528.1:p.(Arg648Gln)	NC_000005.9:g.36105254C>T	VUS	1 lab	3d9e9f4080
2:179411491 TTN C>T	2	179411491	179411491	C	T	TTN	c.94664G>A	NM_001267550.2	NP_001254479.2:p.(Arg31555His)	NC_000002.11:g.179411491C>T	VUS	1 lab	3d9f4b84b7
22:40711505 TNRC6B G>A	22	40711505	40711505	G	A	TNRC6B	c.4897G>A	NM_001162501.2	NP_001155973.1:p.(Ala1633Thr)	NC_000022.10:g.40711505G>A	VUS	1 lab	3da6fa6aa9
6:116953474 RSPH4A A>G	6	116953474	116953474	A	G	RSPH4A	c.2021A>G	NM_001010892.3	NP_001010892.1:p.(Glu674Gly)	NC_000006.11:g.116953474A>G	VUS	1 lab	3da721cdae
3:37061836 MLH1 T>TGC	3	37061836	37061838	T	TGC	MLH1	c.921_922dup	NM_000249.4	NP_000240.1:p.(His308ArgfsTer60)	NC_000003.11:g.37061837_37061838dup	(Likely) pathogenic	1 lab	3da72d9e97
5:178419279 GRM6 G>GGGCAAGGTCT	5	178419279	178419281	G	GGGCAAGGTCT	GRM6	c.505-196_505-195insAGACCTTGCC	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178419280_178419281insGCAAGGTCTG	(Likely) benign	1 lab	3db42495a5
1:245027528 HNRNPU T>A	1	245027528	245027528	T	A	HNRNPU	c.82A>T	NM_031844.3	NP_114032.2:p.(Lys28Ter)	NC_000001.10:g.245027528T>A	(Likely) pathogenic	1 lab	3db659ea9d
2:145158764 ZEB2 A>G	2	145158764	145158764	A	G	ZEB2	c.916+2T>C	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145158764A>G	(Likely) pathogenic	1 lab	3dbd03639e
22:32302224 DEPDC5 G>A	22	32302224	32302224	G	A	DEPDC5	c.4553G>A	NM_001242896.3	NP_001229825.1:p.(Arg1518His)	NC_000022.10:g.32302224G>A	VUS	1 lab	3dc4cf4018
12:49433811 KMT2D G>T	12	49433811	49433811	G	T	KMT2D	c.7742C>A	NM_003482.4	NP_003473.3:p.(Thr2581Lys)	NC_000012.11:g.49433811G>T	VUS	1 lab	3dc7571d69
16:2818160 SRRM2 C>T	16	2818160	2818160	C	T	SRRM2	c.7631C>T	NM_016333.4	NP_057417.3:p.(Ser2544Phe)	NC_000016.9:g.2818160C>T	VUS	1 lab	3dc7ae0308
6:21595266 SOX4 G>GGC	6	21595266	21595268	G	GGC	SOX4	c.502_503insCG	NM_003107.3	NP_003098.1:p.(Gly168AlafsTer127)	NC_000006.11:g.21595267_21595268insCG	(Likely) benign	1 lab	3dcbca170b
15:85403065 ALPK3 G>A	15	85403065	85403065	G	A	ALPK3	c.4024G>A	NM_020778.5	NP_065829.4:p.(Gly1342Ser)	NC_000015.9:g.85403065G>A	VUS	1 lab	3dd23a7909
11:125891192 CDON G>T	11	125891192	125891192	G	T	CDON	c.300C>A	NM_016952.5	NP_058648.4:p.(Asn100Lys)	NC_000011.9:g.125891192G>T	VUS	1 lab	3dd642ea5d
16:1818820 MAPK8IP3 G>A	16	1818820	1818820	G	A	MAPK8IP3	c.3988G>A	NM_001040439.2	NP_001035529.1:p.(Glu1330Lys)	NC_000016.9:g.1818820G>A	(Likely) benign	1 lab	3de353212e
22:23652503 BCR T>C	22	23652503	23652503	T	C	BCR	c.3073-8T>C	NM_004327.4	NP_004318.3:p.?	NC_000022.10:g.23652503T>C	(Likely) benign	1 lab	3de3d08f4c
7:21639520 DNAH11 A>T	7	21639520	21639520	A	T	DNAH11	c.2783A>T	NM_001277115.2	NP_001264044.1:p.(Asp928Val)	NC_000007.13:g.21639520A>T	(Likely) benign	1 lab	3de50dccb7
2:179484465 TTN T>A	2	179484465	179484465	T	A	TTN	c.46579A>T	NM_001267550.2	NP_001254479.2:p.(Met15527Leu)	NC_000002.11:g.179484465T>A	VUS	1 lab	3de7b1899e
16:2134649 TSC2 G>C	16	2134649	2134649	G	C	TSC2	c.4426G>C	NM_000548.5	NP_000539.2:p.(Glu1476Gln)	NC_000016.9:g.2134649G>C	VUS	1 lab	3de929ec26
15:68582631 FEM1B A>G	15	68582631	68582631	A	G	FEM1B	c.935A>G	NM_015322.5	NP_056137.1:p.(Gln312Arg)	NC_000015.9:g.68582631A>G	VUS	1 lab	3de9f3a9a0
17:76113548 TMC6 C>T	17	76113548	76113548	C	T	TMC6	c.2198+1G>A	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76113548C>T	(Likely) pathogenic	1 lab	3deb6046b9
10:115357760 NRAP T>A	10	115357760	115357760	T	A	NRAP	c.4300A>T	NM_001261463.2	NP_001248392.1:p.(Ser1434Cys)	NC_000010.10:g.115357760T>A	VUS	1 lab	3dec683952
8:100830698 VPS13B C>A	8	100830698	100830698	C	A	VPS13B	c.8456C>A	NM_017890.5	NP_060360.3:p.(Ser2819Tyr)	NC_000008.10:g.100830698C>A	VUS	1 lab	3decdba728
3:14174146 TMEM43 T>C	3	14174146	14174146	T	C	TMEM43	c.442+51T>C	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174146T>C	(Likely) benign	1 lab	3dede4fad7
16:88799838 PIEZO1 C>G	16	88799838	88799838	C	G	PIEZO1	c.2512G>C	NM_001142864.4	NP_001136336.2:p.(Val838Leu)	NC_000016.9:g.88799838C>G	VUS	1 lab	3df17704ba
22:19865952 TXNRD2 G>A	22	19865952	19865952	G	A	TXNRD2	c.1284C>T	NM_006440.5	NP_006431.2:p.(His428=)	NC_000022.10:g.19865952G>A	(Likely) benign	1 lab	3dfdc06f78
X:70383988 NLGN3 T>TCC	X	70383988	70383990	T	TCC	NLGN3	c.668-4_668-3dup	NM_018977.4	NP_061850.2:p.?	NC_000023.10:g.70383989_70383990dup	(Likely) benign	1 lab	3dfe614bed
13:32900681 BRCA2 G>A	13	32900681	32900681	G	A	BRCA2	c.562G>A	NM_000059.4	NP_000050.3:p.(Val188Met)	NC_000013.10:g.32900681G>A	VUS	1 lab	3dffc87e0e
5:176637294 NSD1 C>T	5	176637294	176637294	C	T	NSD1	c.1894C>T	NM_022455.5	NP_071900.2:p.(Arg632Ter)	NC_000005.9:g.176637294C>T	(Likely) pathogenic	1 lab	3e00239d9d
4:103459040 NFKB1 G>GT	4	103459040	103459041	G	GT	NFKB1	c.186dup	NM_003998.4	NP_003989.2:p.(Glu63Ter)	NC_000004.11:g.103459041dup	(Likely) pathogenic	1 lab	3e035948f0
22:19458224 UFD1 C>T	22	19458224	19458224	C	T	UFD1	c.291+986G>A	NM_005659.7	NP_005650.2:p.?	NC_000022.10:g.19458224C>T	(Likely) benign	1 lab	3e15bca1d7
1:151384247 POGZ C>T	1	151384247	151384247	C	T	POGZ	c.1780G>A	NM_015100.4	NP_055915.2:p.(Val594Met)	NC_000001.10:g.151384247C>T	VUS	1 lab	3e189ea1fc
4:5586351 EVC2 C>T	4	5586351	5586351	C	T	EVC2	c.3056G>A	NM_147127.5	NP_667338.3:p.(Arg1019Gln)	NC_000004.11:g.5586351C>T	VUS	1 lab	3e1ab5cb69
18:3452005 TGIF1 GC>G	18	3452005	3452007	GC	G	TGIF1	c.16+1504del	NM_173208.3	NP_775300.1:p.?	NC_000018.9:g.3452007del	VUS	1 lab	3e1c2d99b3
6:31088202 CDSN A>G	6	31088202	31088202	A	G	CDSN	c.-6T>C	NM_001264.5	NP_001255.4:p.?	NC_000006.11:g.31088202A>G	(Likely) benign	1 lab	3e1d13fc3e
19:36583587 WDR62 G>A	19	36583587	36583587	G	A	WDR62	c.2211-4G>A	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36583587G>A	(Likely) benign	1 lab	3e1fa6e93f
11:26574777 ANO3 G>T	11	26574777	26574777	G	T	ANO3	c.1290-19G>T	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26574777G>T	(Likely) benign	1 lab	3e2067e3f8
10:18827247 CACNB2 G>C	10	18827247	18827247	G	C	CACNB2	c.1279G>C	NM_201590.3	NP_963884.2:p.(Ala427Pro)	NC_000010.10:g.18827247G>C	VUS	1 lab	3e24f005a7
17:57739008 CLTC C>T	17	57739008	57739008	C	T	CLTC	c.1380+4C>T	NM_001288653.2	NP_001275582.1:p.?	NC_000017.10:g.57739008C>T	(Likely) benign	1 lab	3e27576963
16:16244463 ABCC6 G>A	16	16244463	16244463	G	A	ABCC6	c.4375C>T	NM_001171.6	NP_001162.5:p.(Arg1459Cys)	NC_000016.9:g.16244463G>A	VUS	1 lab	3e296e9386
11:118529017 TREH T>G	11	118529017	118529017	T	G	TREH	c.1734=	NM_007180.3	NP_009111.2:p.(Leu578=)	NC_000011.9:g.118529017T>G	(Likely) benign	1 lab	3e2a729c40
2:197187274 HECW2 C>T	2	197187274	197187274	C	T	HECW2	c.812G>A	NM_020760.4	NP_065811.1:p.(Arg271His)	NC_000002.11:g.197187274C>T	VUS	1 lab	3e30ed0b5c
2:173352103 ITGA6 C>T	2	173352103	173352103	C	T	ITGA6	c.2082C>T	NM_000210.4	NP_000201.2:p.(Asp694=)	NC_000002.11:g.173352103C>T	(Likely) benign	1 lab	3e334c3b41
19:621126 POLRMT G>A	19	621126	621126	G	A	POLRMT	c.2572C>T	NM_005035.4	NP_005026.3:p.(Arg858Trp)	NC_000019.9:g.621126G>A	VUS	1 lab	3e4980dff2
20:948617 RSPO4 C>T	20	948617	948617	C	T	RSPO4	c.244G>A	NM_001029871.4	NP_001025042.2:p.(Gly82Ser)	NC_000020.10:g.948617C>T	VUS	1 lab	3e383bae12
2:179495649 TTN C>T	2	179495649	179495649	C	T	TTN	c.44036G>A	NM_001267550.2	NP_001254479.2:p.(Arg14679Gln)	NC_000002.11:g.179495649C>T	VUS	1 lab	3e3b1c9dec
X:31187581 DMD G>T	X	31187581	31187581	G	T	DMD	c.10532C>A	NM_004006.3	NP_003997.2:p.(Ala3511Glu)	NC_000023.10:g.31187581G>T	VUS	1 lab	3e3e4fdaac
2:179457754 TTN C>T	2	179457754	179457754	C	T	TTN	c.59092G>A	NM_001267550.2	NP_001254479.2:p.(Asp19698Asn)	NC_000002.11:g.179457754C>T	VUS	1 lab	3e416720e6
17:39915001 JUP C>T	17	39915001	39915001	C	T	JUP	c.1619G>A	NM_002230.4	NP_002221.1:p.(Arg540His)	NC_000017.10:g.39915001C>T	VUS	1 lab	3e425ba7aa
X:148037542 AFF2 A>G	X	148037542	148037542	A	G	AFF2	c.1967A>G	NM_002025.4	NP_002016.2:p.(Lys656Arg)	NC_000023.10:g.148037542A>G	VUS	1 lab	3e428310d9
2:136594158 LCT G>A	2	136594158	136594158	G	A	LCT	c.582C>T	NM_002299.4	NP_002290.2:p.(Thr194=)	NC_000002.11:g.136594158G>A	(Likely) benign	1 lab	3e465fad8f
2:179449949 TTN C>A	2	179449949	179449949	C	A	TTN	c.64522G>T	NM_001267550.2	NP_001254479.2:p.(Val21508Phe)	NC_000002.11:g.179449949C>A	VUS	1 lab	3e48a2ab82
8:55533680 RP1 AG>A	8	55533680	55533683	AG	A	RP1	c.157del	NM_006269.2	NP_006260.1:p.(Val53TrpfsTer28)	NC_000008.10:g.55533683del	(Likely) pathogenic	1 lab	3e490a8029
16:3168931 ZNF205 G>A	16	3168931	3168931	G	A	ZNF205	c.510G>A	NM_001278158.2	NP_001265087.1:p.(Trp170Ter)	NC_000016.9:g.3168931G>A	VUS	1 lab	3e501d78f1
1:241663863 FH G>T	1	241663863	241663863	G	T	FH	c.1264C>A	NM_000143.4	NP_000134.2:p.(Leu422Met)	NC_000001.10:g.241663863G>T	VUS	1 lab	3e56576545
2:3673648 COLEC11 G>A	2	3673648	3673648	G	A	COLEC11	c.159G>A	NM_199235.3	NP_954705.1:p.(Lys53=)	NC_000002.11:g.3673648G>A	(Likely) benign	1 lab	3e57d014f2
13:101844385 NALCN C>G	13	101844385	101844385	C	G	NALCN	c.1647G>C	NM_052867.4	NP_443099.1:p.(Gln549His)	NC_000013.10:g.101844385C>G	VUS	1 lab	3e5d9f710e
7:100285711 GIGYF1 C>T	7	100285711	100285711	C	T	GIGYF1	c.58G>A	NM_001375765.1	NP_001362694.1:p.(Gly20Ser)	NC_000007.13:g.100285711C>T	VUS	1 lab	3e5dbd0ee9
10:43622077 RET G>A	10	43622077	43622077	G	A	RET	c.3094G>A	NM_020975.6	NP_066124.1:p.(Gly1032Ser)	NC_000010.10:g.43622077G>A	VUS	1 lab	3e5f0201cb
1:45807618 TOE1 C>A	1	45807618	45807618	C	A	TOE1	c.334-3C>A	NM_025077.4	NP_079353.3:p.?	NC_000001.10:g.45807618C>A	VUS	1 lab	3e5fdb0cb9
11:77835199 ALG8 G>C	11	77835199	77835199	G	C	ALG8	c.236C>G	NM_024079.5	NP_076984.2:p.(Ser79Ter)	NC_000011.9:g.77835199G>C	(Likely) pathogenic	1 lab	3e61c60c89
10:75830474 VCL C>T	10	75830474	75830474	C	T	VCL	c.286C>T	NM_014000.3	NP_054706.1:p.(Gln96Ter)	NC_000010.10:g.75830474C>T	(Likely) pathogenic	1 lab	3e6206a3b8
X:12735117 FRMPD4 G>A	X	12735117	12735117	G	A	FRMPD4	c.2539G>A	NM_014728.3	NP_055543.2:p.(Val847Met)	NC_000023.10:g.12735117G>A	VUS	1 lab	3e6ada83cb
11:26569054 ANO3 G>A	11	26569054	26569054	G	A	ANO3	c.1429G>A	NM_001313726.2	NP_001300655.1:p.(Val477Ile)	NC_000011.9:g.26569054G>A	VUS	1 lab	3e6e4266cd
2:166859106 SCN1A A>G	2	166859106	166859106	A	G	SCN1A	c.4160T>C	NM_001165963.4	NP_001159435.1:p.(Ile1387Thr)	NC_000002.11:g.166859106A>G	VUS	1 lab	3e732c71f6
11:103153800 DYNC2H1 G>A	11	103153800	103153800	G	A	DYNC2H1	c.10897G>A	NM_001080463.2	NP_001073932.1:p.(Val3633Met)	NC_000011.9:g.103153800G>A	VUS	1 lab	3e7578365b
5:156186314 SGCD G>A	5	156186314	156186314	G	A	SGCD	c.786G>A	NM_000337.6	NP_000328.2:p.(Glu262=)	NC_000005.9:g.156186314G>A	(Likely) benign	1 lab	3e77a82c88
17:60040256 MED13 C>T	17	60040256	60040256	C	T	MED13	c.4921G>A	NM_005121.3	NP_005112.2:p.(Val1641Ile)	NC_000017.10:g.60040256C>T	(Likely) benign	1 lab	3e7a0a0db6
2:179439383 TTN C>G	2	179439383	179439383	C	G	TTN	c.71476G>C	NM_001267550.2	NP_001254479.2:p.(Val23826Leu)	NC_000002.11:g.179439383C>G	VUS	1 lab	3e7bc3ad29
2:128028923 ERCC3 C>T	2	128028923	128028923	C	T	ERCC3	c.1934G>A	NM_000122.2	NP_000113.1:p.(Arg645Gln)	NC_000002.11:g.128028923C>T	VUS	1 lab	3e7f1a0502
7:128483846 FLNC A>T	7	128483846	128483846	A	T	FLNC	c.2812-4A>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483846A>T	(Likely) benign	1 lab	3e7f745971
17:61278307 TANC2 G>C	17	61278307	61278307	G	C	TANC2	c.536G>C	NM_025185.4	NP_079461.2:p.(Ser179Thr)	NC_000017.10:g.61278307G>C	VUS	1 lab	3e8011b5f8
16:9017267 USP7 G>A	16	9017267	9017267	G	A	USP7	c.188C>T	NM_003470.3	NP_003461.2:p.(Thr63Ile)	NC_000016.9:g.9017267G>A	VUS	1 lab	3e81b4b750
12:4771682 NDUFA9 G>A	12	4771682	4771682	G	A	NDUFA9	c.553-17G>A	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4771682G>A	(Likely) benign	1 lab	3e82b6add1
1:237789020 RYR2 C>T	1	237789020	237789020	C	T	RYR2	c.6082C>T	NM_001035.3	NP_001026.2:p.(Arg2028Cys)	NC_000001.10:g.237789020C>T	VUS	1 lab	3e82fddfb1
X:53449568 SMC1A G>A	X	53449568	53449568	G	A	SMC1A	c.-19C>T	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53449568G>A	(Likely) benign	1 lab	3e83b0e4f5
2:179542009 TTN C>T	2	179542009	179542009	C	T	TTN	c.34297G>A	NM_001267550.2	NP_001254479.2:p.(Glu11433Lys)	NC_000002.11:g.179542009C>T	VUS	1 lab	3e8b6a86b5
5:98238643 CHD1 T>C	5	98238643	98238643	T	C	CHD1	c.398A>G	NM_001270.4	NP_001261.2:p.(Asp133Gly)	NC_000005.9:g.98238643T>C	(Likely) benign	1 lab	3e90e78be8
16:2550347 TBC1D24 G>A	16	2550347	2550347	G	A	TBC1D24	c.1381G>A	NM_001199107.2	NP_001186036.1:p.(Ala461Thr)	NC_000016.9:g.2550347G>A	VUS	1 lab	3e91e95282
11:67765163 UNC93B1 A>AG	11	67765163	67765164	A	AG	UNC93B1	c.887_889=	NM_030930.4	NP_112192.2:p.(Ala296_Phe297=)	NC_000011.9:g.67765164dup	(Likely) benign	1 lab	3e93b6387a
16:1261219 CACNA1H A>G	16	1261219	1261219	A	G	CACNA1H	c.4275A>G	NM_021098.3	NP_066921.2:p.(Ser1425=)	NC_000016.9:g.1261219A>G	(Likely) benign	1 lab	3e951eb378
18:56008977 NEDD4L G>A	18	56008977	56008977	G	A	NEDD4L	c.1325G>A	NM_001144967.3	NP_001138439.1:p.(Arg442His)	NC_000018.9:g.56008977G>A	(Likely) benign	1 lab	3e95d9543d
16:53967934 FTO TC>T	16	53967934	53967938	TC	T	FTO	c.1281del	NM_001080432.3	NP_001073901.1:p.(Val428TrpfsTer8)	NC_000016.9:g.53967938del	VUS	1 lab	3e9a7b1984
1:39747877 MACF1 C>T	1	39747877	39747877	C	T	MACF1	c.544-3C>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39747877C>T	(Likely) benign	1 lab	3e9e526a5d
9:117633 FOXD4 C>G	9	117633	117633	C	G	FOXD4	c.487G>C	NM_207305.5	NP_997188.2:p.(Val163Leu)	NC_000009.11:g.117633C>G	VUS	1 lab	3ea28aad47
11:77815047 ALG8 G>A	11	77815047	77815047	G	A	ALG8	c.1328C>T	NM_024079.5	NP_076984.2:p.(Ser443Leu)	NC_000011.9:g.77815047G>A	VUS	1 lab	3ea2b94206
17:41251791 BRCA1 C>A	17	41251791	41251791	C	A	BRCA1	c.547+1G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251791C>A	(Likely) pathogenic	1 lab	3ea3ccf0ce
17:79966910 ASPSCR1 CAGCCCGTGGACCGGG>C	17	79966910	79966944	CAGCCCGTGGACCGGG	C	ASPSCR1	c.951_965del	NM_001251888.2	NP_001238817.1:p.(Asp319_Val323del)	NC_000017.10:g.79966930_79966944del	VUS	1 lab	3ea67740cb
1:8424142 RERE T>C	1	8424142	8424142	T	C	RERE	c.1714A>G	NM_012102.4	NP_036234.3:p.(Met572Val)	NC_000001.10:g.8424142T>C	(Likely) benign	1 lab	3ea895cc9f
6:79712128 PHIP G>C	6	79712128	79712128	G	C	PHIP	c.1654-287C>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79712128G>C	VUS	1 lab	3ea9d18b85
5:154284928 GEMIN5 T>C	5	154284928	154284928	T	C	GEMIN5	c.2504A>G	NM_015465.5	NP_056280.2:p.(Lys835Arg)	NC_000005.9:g.154284928T>C	(Likely) benign	1 lab	3eadef66e5
2:25458649 DNMT3A G>A	2	25458649	25458649	G	A	DNMT3A	c.2524C>T	NM_175629.2	NP_783328.1:p.(Gln842Ter)	NC_000002.11:g.25458649G>A	(Likely) pathogenic	1 lab	3eae2cf8da
X:32429896 DMD G>A	X	32429896	32429896	G	A	DMD	c.4206C>T	NM_004006.3	NP_003997.2:p.(Asp1402=)	NC_000023.10:g.32429896G>A	(Likely) benign	1 lab	3eaf31b88c
14:94849460 SERPINA1 G>T	14	94849460	94849460	G	T	SERPINA1	c.115C>A	NM_001127701.2	NP_001121173.1:p.(His39Asn)	NC_000014.8:g.94849460G>T	(Likely) benign	1 lab	3eb100d8da
5:112043220 APC A>C	5	112043220	112043220	A	C	APC	c.-195A>C	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043220A>C	(Likely) pathogenic	1 lab	3eb30519bf
22:51143494 SHANK3 A>C	22	51143494	51143494	A	C	SHANK3	c.2224A>C	NM_001372044.2	NP_001358973.1:p.(Lys742Gln)	NC_000022.10:g.51143494A>C	VUS	1 lab	3eb3b5f5de
6:32006334 CYP21A2 C>A	6	32006334	32006334	C	A	CYP21A2	c.135C>A	NM_000500.9	NP_000491.4:p.(Leu45=)	NC_000006.11:g.32006334C>A	(Likely) benign	1 lab	3eb525ff59
22:45755791 SMC1B A>T	22	45755791	45755791	A	T	SMC1B	c.2756T>A	NM_148674.5	NP_683515.4:p.(Leu919Gln)	NC_000022.10:g.45755791A>T	VUS	1 lab	3eb67b3916
7:83029532 SEMA3E G>A	7	83029532	83029532	G	A	SEMA3E	c.1178C>T	NM_012431.3	NP_036563.1:p.(Thr393Ile)	NC_000007.13:g.83029532G>A	VUS	1 lab	3eb872badc
11:123516341 SCN3B G>A	11	123516341	123516341	G	A	SCN3B	c.173C>T	NM_018400.4	NP_060870.1:p.(Thr58Met)	NC_000011.9:g.123516341G>A	VUS	1 lab	3eb8d14b91
20:42815134 JPH2 C>T	20	42815134	42815134	C	T	JPH2	c.212G>A	NM_020433.5	NP_065166.2:p.(Gly71Glu)	NC_000020.10:g.42815134C>T	VUS	1 lab	3eb8e908a0
15:75684596 SIN3A A>AC	15	75684596	75684597	A	AC	SIN3A	c.2837dup	NM_001145358.2	NP_001138830.1:p.(Leu947SerfsTer8)	NC_000015.9:g.75684597dup	(Likely) pathogenic	1 lab	3ebb6c5574
22:29121049 CHEK2 C>T	22	29121049	29121049	C	T	CHEK2	c.508G>A	NM_007194.4	NP_009125.1:p.(Val170Ile)	NC_000022.10:g.29121049C>T	VUS	1 lab	3ebd3b4748
15:64506314 CSNK1G1 T>C	15	64506314	64506314	T	C	CSNK1G1	c.454A>G	NM_022048.5	NP_071331.2:p.(Met152Val)	NC_000015.9:g.64506314T>C	VUS	1 lab	3ebe1f7b22
17:41247941 BRCA1 T>A	17	41247941	41247941	T	A	BRCA1	c.594-2A>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247941T>A	VUS	1 lab	3ebe5ffdc4
7:83029401 SEMA3E C>T	7	83029401	83029401	C	T	SEMA3E	c.1309G>A	NM_012431.3	NP_036563.1:p.(Ala437Thr)	NC_000007.13:g.83029401C>T	VUS	1 lab	3ebec20986
9:109687671 ZNF462 C>T	9	109687671	109687671	C	T	ZNF462	c.1478C>T	NM_021224.6	NP_067047.4:p.(Thr493Met)	NC_000009.11:g.109687671C>T	(Likely) benign	1 lab	3ec3288da4
2:179576923 TTN C>A	2	179576923	179576923	C	A	TTN	c.27634G>T	NM_001267550.2	NP_001254479.2:p.(Glu9212Ter)	NC_000002.11:g.179576923C>A	VUS	1 lab	3ecdbb7abb
11:20676253 SLC6A5 T>C	11	20676253	20676253	T	C	SLC6A5	c.2239-6T>C	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20676253T>C	(Likely) benign	1 lab	3ed25996db
6:42932200 PEX6 G>T	6	42932200	42932200	G	T	PEX6	c.2816C>A	NM_000287.4	NP_000278.3:p.(Pro939Gln)	NC_000006.11:g.42932200G>T	(Likely) benign	1 lab	3ed70d232d
2:179581972 TTN G>T	2	179581972	179581972	G	T	TTN	c.25489C>A	NM_001267550.2	NP_001254479.2:p.(Arg8497Ser)	NC_000002.11:g.179581972G>T	VUS	1 lab	3ed722f8ee
13:26911760 CDK8 C>T	13	26911760	26911760	C	T	CDK8	c.185C>T	NM_001260.3	NP_001251.1:p.(Ser62Leu)	NC_000013.10:g.26911760C>T	(Likely) pathogenic	1 lab	3edbae3d29
7:5752422 RNF216 G>T	7	5752422	5752422	G	T	RNF216	c.1906C>A	NM_207111.4	NP_996994.1:p.(Gln636Lys)	NC_000007.13:g.5752422G>T	VUS	1 lab	3eddad7499
2:47702241 MSH2 A>C	2	47702241	47702241	A	C	MSH2	c.1837A>C	NM_000251.3	NP_000242.1:p.(Asn613His)	NC_000002.11:g.47702241A>C	(Likely) benign	1 lab	3ee0154a8a
2:240048300 HDAC4 C>T	2	240048300	240048300	C	T	HDAC4	c.1370G>A	NM_006037.4	NP_006028.2:p.(Arg457Gln)	NC_000002.11:g.240048300C>T	VUS	1 lab	3ee38c58fb
15:42147077 SPTBN5 C>CG	15	42147077	42147078	C	CG	SPTBN5	c.9520dup	NM_016642.4	NP_057726.4:p.(Arg3174ProfsTer18)	NC_000015.9:g.42147078dup	VUS	1 lab	3ee943cd6f
X:32715946 DMD A>G	X	32715946	32715946	A	G	DMD	c.960+41T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32715946A>G	VUS	1 lab	3eeac3479d
4:123663115 BBS12 C>T	4	123663115	123663115	C	T	BBS12	c.68C>T	NM_152618.3	NP_689831.2:p.(Ala23Val)	NC_000004.11:g.123663115C>T	VUS	1 lab	3eeb810ad8
8:68211573 ARFGEF1 C>T	8	68211573	68211573	C	T	ARFGEF1	c.330G>A	NM_006421.5	NP_006412.2:p.(Gly110=)	NC_000008.10:g.68211573C>T	(Likely) benign	1 lab	3eec75b0db
8:126051126 WASHC5 T>TA	8	126051126	126051130	T	TA	WASHC5	c.3029dup	NM_014846.4	NP_055661.3:p.(Leu1010PhefsTer3)	NC_000008.10:g.126051130dup	(Likely) pathogenic	1 lab	3eee59c3c9
2:230675634 TRIP12 G>A	2	230675634	230675634	G	A	TRIP12	c.2039C>T	NM_004238.3	NP_004229.1:p.(Ser680Phe)	NC_000002.11:g.230675634G>A	VUS	1 lab	3eeebfec1f
6:88273971 RARS2 G>A	6	88273971	88273971	G	A	RARS2	c.111-21C>T	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88273971G>A	(Likely) benign	1 lab	3eef2eb0f2
14:102506569 DYNC1H1 G>T	14	102506569	102506569	G	T	DYNC1H1	c.11691-4G>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102506569G>T	(Likely) benign	1 lab	3ef5f644f7
20:47628572 ARFGEF2 C>T	20	47628572	47628572	C	T	ARFGEF2	c.3869C>T	NM_006420.3	NP_006411.2:p.(Ala1290Val)	NC_000020.10:g.47628572C>T	VUS	1 lab	3efa9413cf
6:143806276 PEX3 A>G	6	143806276	143806276	A	G	PEX3	c.942-13A>G	NM_003630.3	NP_003621.1:p.?	NC_000006.11:g.143806276A>G	(Likely) benign	1 lab	3f04d88a1a
5:132232487 AFF4 T>C	5	132232487	132232487	T	C	AFF4	c.1835A>G	NM_014423.4	NP_055238.1:p.(Asn612Ser)	NC_000005.9:g.132232487T>C	(Likely) benign	1 lab	3f05c0a279
X:77224946 ATP7A T>A	X	77224946	77224946	T	A	ATP7A	c.-21-2172T>A	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77224946T>A	(Likely) benign	1 lab	3f06b9223b
12:7050679 ATN1 GCA>G	12	7050679	7050683	GCA	G	ATN1	c.3504_3505del	NM_001007026.2	NP_001007027.1:p.(His1168GlnfsTer138)	NC_000012.11:g.7050682_7050683del	VUS	1 lab	3f06f33986
X:153662651 ATP6AP1 A>G	X	153662651	153662651	A	G	ATP6AP1	c.782A>G	NM_001183.6	NP_001174.2:p.(Asn261Ser)	NC_000023.10:g.153662651A>G	VUS	1 lab	3f0e2f3865
1:152277184 FLG T>C	1	152277184	152277184	T	C	FLG	c.10178A>G	NM_002016.2	NP_002007.1:p.(His3393Arg)	NC_000001.10:g.152277184T>C	VUS	1 lab	3f0f265b1b
X:48681825 HDAC6 C>T	X	48681825	48681825	C	T	HDAC6	c.3016C>T	NM_006044.4	NP_006035.2:p.(Gln1006Ter)	NC_000023.10:g.48681825C>T	VUS	1 lab	3f1234d7c9
12:52145280 SCN8A C>T	12	52145280	52145280	C	T	SCN8A	c.2273C>T	NM_014191.4	NP_055006.1:p.(Ala758Val)	NC_000012.11:g.52145280C>T	VUS	1 lab	3f14731b91
4:5633667 EVC2 GTCT>G	4	5633667	5633677	GTCT	G	EVC2	c.1560_1562del	NM_147127.5	NP_667338.3:p.(Glu520del)	NC_000004.11:g.5633675_5633677del	VUS	1 lab	3f1ea2ccb3
2:44204313 LRPPRC G>C	2	44204313	44204313	G	C	LRPPRC	c.572C>G	NM_133259.4	NP_573566.2:p.(Ala191Gly)	NC_000002.11:g.44204313G>C	VUS	1 lab	3f256f79b3
9:130931672 CIZ1 G>A	9	130931672	130931672	G	A	CIZ1	c.2313+13C>T	NM_001257975.2	NP_001244904.1:p.?	NC_000009.11:g.130931672G>A	(Likely) benign	1 lab	3f2839ba90
11:130059701 ST14 G>A	11	130059701	130059701	G	A	ST14	c.508G>A	NM_021978.4	NP_068813.1:p.(Glu170Lys)	NC_000011.9:g.130059701G>A	VUS	1 lab	3f2b21128b
3:11070415 SLC6A1 G>A	3	11070415	11070415	G	A	SLC6A1	c.1079-6G>A	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11070415G>A	(Likely) benign	1 lab	3f2f7d2d0e
5:1212483 SLC6A19 A>C	5	1212483	1212483	A	C	SLC6A19	c.547A>C	NM_001003841.3	NP_001003841.1:p.(Ile183Leu)	NC_000005.9:g.1212483A>C	VUS	1 lab	3f30dd75af
X:82764040 POU3F4 A>G	X	82764040	82764040	A	G	POU3F4	c.708=	NM_000307.5	NP_000298.3:p.(Glu236=)	NC_000023.10:g.82764040A>G	(Likely) benign	1 lab	3f3b45574d
X:153222835 HCFC1 G>C	X	153222835	153222835	G	C	HCFC1	c.2283C>G	NM_005334.3	NP_005325.2:p.(Thr761=)	NC_000023.10:g.153222835G>C	(Likely) benign	1 lab	3f3bd9d011
3:189582045 TP63 T>C	3	189582045	189582045	T	C	TP63	c.598T>C	NM_001329964.2	NP_001316893.1:p.(Tyr200His)	NC_000003.11:g.189582045T>C	(Likely) pathogenic	1 lab	3f3cd62a1d
1:236920792 ACTN2 C>T	1	236920792	236920792	C	T	ACTN2	c.2161C>T	NM_001103.4	NP_001094.1:p.(Arg721Cys)	NC_000001.10:g.236920792C>T	VUS	1 lab	3f42ac1c96
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	1 lab	3f43997764
12:52159746 SCN8A G>A	12	52159746	52159746	G	A	SCN8A	c.2836G>A	NM_014191.4	NP_055006.1:p.(Glu946Lys)	NC_000012.11:g.52159746G>A	VUS	1 lab	3f4b41d47b
7:99798530 STAG3 C>T	7	99798530	99798530	C	T	STAG3	c.1999C>T	NM_012447.4	NP_036579.2:p.(Arg667Cys)	NC_000007.13:g.99798530C>T	VUS	1 lab	3f4ccafc9e
7:140453158 BRAF C>G	7	140453158	140453158	C	G	BRAF	c.1777G>C	NM_004333.6	NP_004324.2:p.(Gly593Arg)	NC_000007.13:g.140453158C>G	VUS	1 lab	3f68d1067f
1:207653395 CR2 C>A	1	207653395	207653395	C	A	CR2	c.3185C>A	NM_001006658.3	NP_001006659.1:p.(Ala1062Glu)	NC_000001.10:g.207653395C>A	(Likely) benign	1 lab	3f56eae484
2:85788061 GGCX C>T	2	85788061	85788061	C	T	GGCX	c.91G>A	NM_000821.7	NP_000812.2:p.(Asp31Asn)	NC_000002.11:g.85788061C>T	(Likely) benign	1 lab	3f5bac55fc
15:85401018 ALPK3 C>T	15	85401018	85401018	C	T	ALPK3	c.3049C>T	NM_020778.5	NP_065829.4:p.(Arg1017Cys)	NC_000015.9:g.85401018C>T	VUS	1 lab	3f606ba034
2:220348262 SPEG G>A	2	220348262	220348262	G	A	SPEG	c.6077G>A	NM_005876.5	NP_005867.3:p.(Arg2026Gln)	NC_000002.11:g.220348262G>A	VUS	1 lab	3f6096da3a
7:98792785 KPNA7 T>A	7	98792785	98792785	T	A	KPNA7	c.461A>T	NM_001145715.3	NP_001139187.1:p.(Glu154Val)	NC_000007.13:g.98792785T>A	VUS	1 lab	3f6298bfe4
14:77491801 IRF2BPL C>T	14	77491801	77491801	C	T	IRF2BPL	c.2335G>A	NM_024496.4	NP_078772.1:p.(Glu779Lys)	NC_000014.8:g.77491801C>T	VUS	1 lab	3f6400de7e
11:64701295 PPP2R5B C>T	11	64701295	64701295	C	T	PPP2R5B	c.1473C>T	NM_006244.4	NP_006235.1:p.(Ala491=)	NC_000011.9:g.64701295C>T	(Likely) benign	1 lab	3f64fb2b4d
11:119146718 CBL G>T	11	119146718	119146718	G	T	CBL	c.881G>T	NM_005188.4	NP_005179.2:p.(Arg294Leu)	NC_000011.9:g.119146718G>T	VUS	1 lab	3f69491df7
7:44266120 CAMK2B G>T	7	44266120	44266120	G	T	CAMK2B	c.1592C>A	NM_001220.5	NP_001211.3:p.(Thr531Asn)	NC_000007.13:g.44266120G>T	VUS	1 lab	3f79e623e0
19:51850290 ETFB G>A	19	51850290	51850290	G	A	ETFB	c.734C>T	NM_001014763.1	NP_001014763.1:p.(Thr245Met)	NC_000019.9:g.51850290G>A	(Likely) benign	1 lab	3f79ee5e90
12:48371824 COL2A1 AGGCCAGGAGGACCCACGG>A	12	48371824	48371855	AGGCCAGGAGGACCCACGG	A	COL2A1	c.3062_3079del	NM_001844.5	NP_001835.3:p.(Pro1021_Gly1026del)	NC_000012.11:g.48371838_48371855del	(Likely) pathogenic	1 lab	3f7b89cecb
2:179636103 TTN C>T	2	179636103	179636103	C	T	TTN	c.7951G>A	NM_001267550.2	NP_001254479.2:p.(Glu2651Lys)	NC_000002.11:g.179636103C>T	VUS	1 lab	3f7bd90275
5:149749082 TCOF1 C>T	5	149749082	149749082	C	T	TCOF1	c.566-10C>T	NM_001135243.2	NP_001128715.1:p.?	NC_000005.9:g.149749082C>T	(Likely) benign	1 lab	3f804c0e62
4:56291528 TMEM165 T>C	4	56291528	56291528	T	C	TMEM165	c.899-15T>C	NM_018475.5	NP_060945.2:p.?	NC_000004.11:g.56291528T>C	(Likely) benign	1 lab	3f8abec583
7:35284664 TBX20 T>C	7	35284664	35284664	T	C	TBX20	c.551A>G	NM_001077653.2	NP_001071121.1:p.(Tyr184Cys)	NC_000007.13:g.35284664T>C	VUS	1 lab	3f8c21c6d0
2:179418892 TTN G>T	2	179418892	179418892	G	T	TTN	c.88946C>A	NM_001267550.2	NP_001254479.2:p.(Ser29649Ter)	NC_000002.11:g.179418892G>T	(Likely) pathogenic	1 lab	3f8da7d470
17:74283882 QRICH2 T>C	17	74283882	74283882	T	C	QRICH2	c.3397A>G	NM_032134.2	NP_115510.1:p.(Arg1133Gly)	NC_000017.10:g.74283882T>C	VUS	1 lab	3f90f14584
12:80900335 PTPRQ G>T	12	80900335	80900335	G	T	PTPRQ	c.2456-13G>T	NM_001145026.2	NP_001138498.1:p.?	NC_000012.11:g.80900335G>T	(Likely) benign	1 lab	3f963e1a20
X:601772 SHOX C>T	X	601772	601772	C	T	SHOX	c.583C>T	NM_000451.3	NP_000442.1:p.(Arg195Ter)	NC_000023.10:g.601772C>T	(Likely) pathogenic	1 lab	3f9655f58d
2:179396821 TTN G>A	2	179396821	179396821	G	A	TTN	c.104521C>T	NM_001267550.2	NP_001254479.2:p.(Arg34841Cys)	NC_000002.11:g.179396821G>A	VUS	1 lab	3f96fe9785
20:6064765 FERMT1 G>A	20	6064765	6064765	G	A	FERMT1	c.1640C>T	NM_017671.5	NP_060141.3:p.(Pro547Leu)	NC_000020.10:g.6064765G>A	(Likely) benign	1 lab	3f9d050cb7
21:28305195 ADAMTS5 G>A	21	28305195	28305195	G	A	ADAMTS5	c.1858C>T	NM_007038.5	NP_008969.2:p.(Pro620Ser)	NC_000021.8:g.28305195G>A	VUS	1 lab	3f9d771e8d
1:16258493 SPEN G>A	1	16258493	16258493	G	A	SPEN	c.5758G>A	NM_015001.3	NP_055816.2:p.(Val1920Ile)	NC_000001.10:g.16258493G>A	(Likely) benign	1 lab	3fa1ab6246
12:65634833 LEMD3 ATTAG>A	12	65634833	65634840	ATTAG	A	LEMD3	c.2275_2278del	NM_014319.5	NP_055134.2:p.(Val759TyrfsTer13)	NC_000012.11:g.65634837_65634840del	(Likely) pathogenic	1 lab	3fa34ce8d7
13:111293895 CARS2 A>AT	13	111293895	111293900	A	AT	CARS2	c.1683dup	NM_024537.4	NP_078813.1:p.(Ser562IlefsTer36)	NC_000013.10:g.111293900dup	VUS	1 lab	3facf01fb2
2:120658363 PTPN4 C>T	2	120658363	120658363	C	T	PTPN4	c.745C>T	NM_002830.4	NP_002821.1:p.(Arg249Ter)	NC_000002.11:g.120658363C>T	VUS	1 lab	3fbd334e53
11:64066972 KCNK4 C>A	11	64066972	64066972	C	A	KCNK4	c.956C>A	NM_033310.3	NP_201567.1:p.(Ser319Tyr)	NC_000011.9:g.64066972C>A	VUS	1 lab	3fbfd78b09
12:22211548 CMAS C>T	12	22211548	22211548	C	T	CMAS	c.607C>T	NM_018686.6	NP_061156.1:p.(Arg203Cys)	NC_000012.11:g.22211548C>T	VUS	1 lab	3fc0d40c54
7:151878988 KMT2C C>T	7	151878988	151878988	C	T	KMT2C	c.5957G>A	NM_170606.3	NP_733751.2:p.(Arg1986Gln)	NC_000007.13:g.151878988C>T	(Likely) benign	1 lab	3fc69e0ca1
1:201286771 PKP1 C>T	1	201286771	201286771	C	T	PKP1	c.918C>T	NM_000299.4	NP_000290.2:p.(Ala306=)	NC_000001.10:g.201286771C>T	(Likely) benign	1 lab	3fc6a0f006
11:6647296 DCHS1 C>A	11	6647296	6647296	C	A	DCHS1	c.6586G>T	NM_003737.4	NP_003728.1:p.(Asp2196Tyr)	NC_000011.9:g.6647296C>A	VUS	1 lab	3fc9eb080c
5:5318278 ADAMTS16 C>T	5	5318278	5318278	C	T	ADAMTS16	c.3443C>T	NM_139056.4	NP_620687.2:p.(Thr1148Met)	NC_000005.9:g.5318278C>T	VUS	1 lab	3fcd2ec59c
17:48676870 CACNA1G G>A	17	48676870	48676870	G	A	CACNA1G	c.3340G>A	NM_018896.5	NP_061496.2:p.(Gly1114Ser)	NC_000017.10:g.48676870G>A	VUS	1 lab	3fcfff9f87
1:114948281 TRIM33 A>G	1	114948281	114948281	A	G	TRIM33	c.2519T>C	NM_015906.4	NP_056990.3:p.(Ile840Thr)	NC_000001.10:g.114948281A>G	(Likely) benign	1 lab	3fd3a70c8d
15:60850426 RORA A>G	15	60850426	60850426	A	G	RORA	c.217T>C	NM_134260.3	NP_599022.1:p.(Cys73Arg)	NC_000015.9:g.60850426A>G	VUS	1 lab	3fd403b3dd
6:31977528 TNXA C>G	6	31977528	31977528	C	G	TNXA	n.2034G>C	NR_001284.2		NC_000006.11:g.31977528C>G	(Likely) benign	1 lab	3fd69f22d6
3:46902303 MYL3 G>A	3	46902303	46902303	G	A	MYL3	c.170C>T	NM_000258.3	NP_000249.1:p.(Ala57Val)	NC_000003.11:g.46902303G>A	VUS	1 lab	3fd81ee506
12:4768354 NDUFA9 A>C	12	4768354	4768354	A	C	NDUFA9	c.552+11A>C	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4768354A>C	(Likely) benign	1 lab	3fdaa2710e
18:11689846 GNAL T>C	18	11689846	11689846	T	C	GNAL	c.284T>C	NM_182978.4	NP_892023.1:p.(Val95Ala)	NC_000018.9:g.11689846T>C	VUS	1 lab	3fe01bb2f6
12:48374724 COL2A1 C>T	12	48374724	48374724	C	T	COL2A1	c.2491G>A	NM_001844.5	NP_001835.3:p.(Gly831Arg)	NC_000012.11:g.48374724C>T	(Likely) pathogenic	1 lab	3fe5db3cf0
3:134278270 CEP63 C>T	3	134278270	134278270	C	T	CEP63	c.1952C>T	NM_025180.5	NP_079456.2:p.(Ser651Leu)	NC_000003.11:g.134278270C>T	(Likely) benign	1 lab	3fe8cb0691
X:22112100 PHEX G>A	X	22112100	22112100	G	A	PHEX	c.733-1G>A	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22112100G>A	(Likely) pathogenic	1 lab	3feb5fbfeb
3:38051432 PLCD1 G>C	3	38051432	38051432	G	C	PLCD1	c.1313C>G	NM_001130964.2	NP_001124436.1:p.(Pro438Arg)	NC_000003.11:g.38051432G>C	VUS	1 lab	3ff3b442c0
X:53620545 HUWE1 G>C	X	53620545	53620545	G	C	HUWE1	c.3520C>G	NM_031407.7	NP_113584.3:p.(Leu1174Val)	NC_000023.10:g.53620545G>C	VUS	1 lab	3ff8e5bf78
1:5924570 NPHP4 G>A	1	5924570	5924570	G	A	NPHP4	c.3824C>T	NM_015102.5	NP_055917.1:p.(Pro1275Leu)	NC_000001.10:g.5924570G>A	VUS	1 lab	3ffa9318f3
6:152651384 SYNE1 C>A	6	152651384	152651384	C	A	SYNE1	c.14223G>T	NM_033071.5	NP_149062.2:p.(Glu4741Asp)	NC_000006.11:g.152651384C>A	VUS	1 lab	3ffb5353f9
12:6161963 VWF G>GAGA	12	6161963	6161968	G	GAGA	VWF	c.1946-17_1946-15dup	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6161966_6161968dup	(Likely) benign	1 lab	3fffd49f86
7:103180687 RELN G>A	7	103180687	103180687	G	A	RELN	c.6887C>T	NM_005045.4	NP_005036.2:p.(Pro2296Leu)	NC_000007.13:g.103180687G>A	VUS	1 lab	4003d3c02e
9:71849459 TJP2 C>T	9	71849459	71849459	C	T	TJP2	c.1776C>T	NM_004817.4	NP_004808.2:p.(Ala592=)	NC_000009.11:g.71849459C>T	(Likely) benign	1 lab	4004aa2125
5:176637546 NSD1 A>G	5	176637546	176637546	A	G	NSD1	c.2146A>G	NM_022455.5	NP_071900.2:p.(Thr716Ala)	NC_000005.9:g.176637546A>G	VUS	1 lab	40079afa0a
5:138643975 MATR3 C>A	5	138643975	138643975	C	A	MATR3	c.871C>A	NM_199189.3	NP_954659.1:p.(His291Asn)	NC_000005.9:g.138643975C>A	VUS	1 lab	4018bd4b05
X:22094598 PHEX T>C	X	22094598	22094598	T	C	PHEX	c.436+6T>C	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22094598T>C	(Likely) pathogenic	1 lab	401ba873d2
5:76704713 PDE8B G>A	5	76704713	76704713	G	A	PDE8B	c.1366-5G>A	NM_003719.5	NP_003710.1:p.?	NC_000005.9:g.76704713G>A	(Likely) benign	1 lab	402b745b75
6:51875250 PKHD1 A>C	6	51875250	51875250	A	C	PKHD1	c.5608T>G	NM_138694.4	NP_619639.3:p.(Leu1870Val)	NC_000006.11:g.51875250A>C	(Likely) benign	1 lab	402e45eacb
X:123200021 STAG2 A>C	X	123200021	123200021	A	C	STAG2	c.2097-4A>C	NM_001042749.2	NP_001036214.1:p.?	NC_000023.10:g.123200021A>C	(Likely) benign	1 lab	402ec3b907
16:1497444 CLCN7 G>C	16	1497444	1497444	G	C	CLCN7	c.2199C>G	NM_001287.6	NP_001278.1:p.(Cys733Trp)	NC_000016.9:g.1497444G>C	VUS	1 lab	4032f06821
1:158618417 SPTA1 A>G	1	158618417	158618417	A	G	SPTA1	c.3596T>C	NM_003126.4	NP_003117.2:p.(Ile1199Thr)	NC_000001.10:g.158618417A>G	VUS	1 lab	403468774f
2:166859253 SCN1A T>C	2	166859253	166859253	T	C	SCN1A	c.4013A>G	NM_001165963.4	NP_001159435.1:p.(Asn1338Ser)	NC_000002.11:g.166859253T>C	(Likely) pathogenic	1 lab	40369b60f8
4:55141055 PDGFRA A>G	4	55141055	55141055	A	G	PDGFRA	c.1701A>G	NM_006206.6	NP_006197.1:p.(Pro567=)	NC_000004.11:g.55141055A>G	(Likely) benign	1 lab	40374af552
16:2222367 TRAF7 C>T	16	2222367	2222367	C	T	TRAF7	c.651C>T	NM_032271.3	NP_115647.2:p.(Ser217=)	NC_000016.9:g.2222367C>T	(Likely) benign	1 lab	403f1aab24
1:237664014 RYR2 G>T	1	237664014	237664014	G	T	RYR2	c.2207G>T	NM_001035.3	NP_001026.2:p.(Cys736Phe)	NC_000001.10:g.237664014G>T	VUS	1 lab	404046f8ad
2:179664565 TTN G>A	2	179664565	179664565	G	A	TTN	c.656C>T	NM_001267550.2	NP_001254479.2:p.(Thr219Ile)	NC_000002.11:g.179664565G>A	VUS	1 lab	404454c8d7
19:41838055 TGFB1 C>A	19	41838055	41838055	C	A	TGFB1	c.992G>T	NM_000660.7	NP_000651.3:p.(Ser331Ile)	NC_000019.9:g.41838055C>A	VUS	1 lab	4045f09b83
9:93606392 SYK A>T	9	93606392	93606392	A	T	SYK	c.212A>T	NM_003177.7	NP_003168.2:p.(Asn71Ile)	NC_000009.11:g.93606392A>T	(Likely) benign	1 lab	404a01227b
22:50962103 SCO2 C>G	22	50962103	50962103	C	G	SCO2	c.738G>C	NM_001169109.2	NP_001162580.1:p.(Ser246=)	NC_000022.10:g.50962103C>G	(Likely) benign	1 lab	404efa3bf2
11:62288517 AHNAK T>C	11	62288517	62288517	T	C	AHNAK	c.13372A>G	NM_001620.3	NP_001611.1:p.(Lys4458Glu)	NC_000011.9:g.62288517T>C	VUS	1 lab	404fcd8daf
13:33628000 KL C>T	13	33628000	33628000	C	T	KL	c.916C>T	NM_004795.4	NP_004786.2:p.(Arg306Ter)	NC_000013.10:g.33628000C>T	(Likely) pathogenic	1 lab	405196e1fa
14:20940627 PNP C>T	14	20940627	20940627	C	T	PNP	c.172C>T	NM_000270.4	NP_000261.2:p.(Arg58Ter)	NC_000014.8:g.20940627C>T	(Likely) pathogenic	1 lab	405721a3ad
17:12899963 ELAC2 T>C	17	12899963	12899963	T	C	ELAC2	c.1560A>G	NM_018127.7	NP_060597.4:p.(Thr520=)	NC_000017.10:g.12899963T>C	(Likely) benign	1 lab	405765d512
6:45480055 RUNX2 C>T	6	45480055	45480055	C	T	RUNX2	c.932C>T	NM_001024630.4	NP_001019801.3:p.(Thr311Met)	NC_000006.11:g.45480055C>T	(Likely) benign	1 lab	405941ff0b
9:4564432 SLC1A1 G>A	9	4564432	4564432	G	A	SLC1A1	c.414G>A	NM_004170.6	NP_004161.4:p.(Thr138=)	NC_000009.11:g.4564432G>A	(Likely) benign	1 lab	406742e340
2:21236397 APOB C>T	2	21236397	21236397	C	T	APOB	c.3851G>A	NM_000384.3	NP_000375.3:p.(Arg1284Gln)	NC_000002.11:g.21236397C>T	VUS	1 lab	406d9edbc0
2:122288538 RNU4ATAC G>A	2	122288538	122288538	G	A	RNU4ATAC	n.83G>A	NR_023343.1		NC_000002.11:g.122288538G>A	VUS	1 lab	406dbd8525
6:32724258 HLA-DQB2 C>T	6	32724258	32724258	C	T	HLA-DQB2	c.671-15G>A	NM_001198858.2	NP_001185787.1:p.?	NC_000006.11:g.32724258C>T	(Likely) benign	1 lab	4073c841da
5:1293884 TERT G>A	5	1293884	1293884	G	A	TERT	c.1117C>T	NM_198253.3	NP_937983.2:p.(Pro373Ser)	NC_000005.9:g.1293884G>A	VUS	1 lab	40763b9a6a
18:60027171 TNFRSF11A C>T	18	60027171	60027171	C	T	TNFRSF11A	c.522-17C>T	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.60027171C>T	(Likely) benign	1 lab	40828fd479
X:39913212 BCOR C>T	X	39913212	39913212	C	T	BCOR	c.4801G>A	NM_017745.6	NP_060215.4:p.(Asp1601Asn)	NC_000023.10:g.39913212C>T	VUS	1 lab	4085670ae7
3:48604410 COL7A1 C>T	3	48604410	48604410	C	T	COL7A1	c.8156G>A	NM_000094.4	NP_000085.1:p.(Gly2719Asp)	NC_000003.11:g.48604410C>T	(Likely) pathogenic	1 lab	4088aaf048
16:2225623 TRAF7 G>C	16	2225623	2225623	G	C	TRAF7	c.1626G>C	NM_032271.3	NP_115647.2:p.(Lys542Asn)	NC_000016.9:g.2225623G>C	VUS	1 lab	408967d0ad
18:53018138 TCF4 G>T	18	53018138	53018138	G	T	TCF4	c.466C>A	NM_001083962.2	NP_001077431.1:p.(Pro156Thr)	NC_000018.9:g.53018138G>T	VUS	1 lab	408d7ceef9
5:128887557 ADAMTS19 G>A	5	128887557	128887557	G	A	ADAMTS19	c.1329G>A	NM_133638.6	NP_598377.4:p.(Arg443=)	NC_000005.9:g.128887557G>A	(Likely) benign	1 lab	40903534c5
16:81319244 BCO1 T>C	16	81319244	81319244	T	C	BCO1	c.1302+5T>C	NM_017429.3	NP_059125.2:p.?	NC_000016.9:g.81319244T>C	(Likely) benign	1 lab	40929d9110
X:153133890 L1CAM G>A	X	153133890	153133890	G	A	L1CAM	c.1570C>T	NM_001278116.2	NP_001265045.1:p.(Pro524Ser)	NC_000023.10:g.153133890G>A	(Likely) pathogenic	1 lab	40957878cd
14:50778816 L2HGDH A>C	14	50778816	50778816	A	C	L2HGDH	c.53T>G	NM_024884.3	NP_079160.1:p.(Leu18Arg)	NC_000014.8:g.50778816A>C	(Likely) benign	1 lab	409627bb83
1:8421481 RERE C>G	1	8421481	8421481	C	G	RERE	c.2086G>C	NM_012102.4	NP_036234.3:p.(Glu696Gln)	NC_000001.10:g.8421481C>G	VUS	1 lab	4099d8e17d
5:147475386 SPINK5 A>G	5	147475386	147475386	A	G	SPINK5	c.800A>G	NM_001127698.2	NP_001121170.1:p.(Gln267Arg)	NC_000005.9:g.147475386A>G	(Likely) benign	1 lab	409a0e81f8
4:1806663 FGFR3 C>T	4	1806663	1806663	C	T	FGFR3	c.1379C>T	NM_000142.5	NP_000133.1:p.(Pro460Leu)	NC_000004.11:g.1806663C>T	VUS	1 lab	409d6c10e4
17:39742730 KRT14 C>T	17	39742730	39742730	C	T	KRT14	c.357G>A	NM_000526.5	NP_000517.3:p.(Met119Ile)	NC_000017.10:g.39742730C>T	(Likely) pathogenic	1 lab	40a0f8bf5e
6:52303394 EFHC1 A>G	6	52303394	52303394	A	G	EFHC1	c.573+5A>G	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52303394A>G	(Likely) benign	1 lab	40a55ec97e
15:89860619 POLG C>T	15	89860619	89860619	C	T	POLG	c.3631G>A	NM_002693.3	NP_002684.1:p.(Gly1211Arg)	NC_000015.9:g.89860619C>T	VUS	1 lab	40a9335175
17:39776817 KRT17 G>GA	17	39776817	39776828	G	GA	KRT17	c.1182-8dup	NM_000422.3	NP_000413.1:p.?	NC_000017.10:g.39776828dup	(Likely) benign	1 lab	40ac6f3e5c
4:183721296 TENM3 G>A	4	183721296	183721296	G	A	TENM3	c.7892G>A	NM_001080477.4	NP_001073946.1:p.(Arg2631Gln)	NC_000004.11:g.183721296G>A	VUS	1 lab	40b2d228ac
2:179427377 TTN C>A	2	179427377	179427377	C	A	TTN	c.83482G>T	NM_001267550.2	NP_001254479.2:p.(Glu27828Ter)	NC_000002.11:g.179427377C>A	(Likely) pathogenic	1 lab	40b4213923
X:50557290 SHROOM4 G>A	X	50557290	50557290	G	A	SHROOM4				NC_000023.10:g.50557290G>A	VUS	1 lab	40b56f1f13
12:107080714 RFX4 A>T	12	107080714	107080714	A	T	RFX4	c.430A>T	NM_213594.3	NP_998759.1:p.(Met144Leu)	NC_000012.11:g.107080714A>T	VUS	1 lab	40b6f05c42
3:48622991 COL7A1 C>T	3	48622991	48622991	C	T	COL7A1	c.3893G>A	NM_000094.4	NP_000085.1:p.(Arg1298Lys)	NC_000003.11:g.48622991C>T	(Likely) benign	1 lab	40bb267e44
3:101383840 ZBTB11 G>A	3	101383840	101383840	G	A	ZBTB11	c.1591C>T	NM_014415.4	NP_055230.2:p.(Arg531Trp)	NC_000003.11:g.101383840G>A	VUS	1 lab	40bb7089ac
14:51027011 ATL1 A>T	14	51027011	51027011	A	T	ATL1	c.28A>T	NM_015915.5	NP_056999.2:p.(Ser10Cys)	NC_000014.8:g.51027011A>T	VUS	1 lab	40be622984
7:27135316 HOXA1 ATGGTGGTGG>A	7	27135316	27135340	ATGGTGGTGG	A	HOXA1	c.207_215del	NM_005522.5	NP_005513.2:p.(His70_His72del)	NC_000007.13:g.27135332_27135340del	(Likely) benign	1 lab	40c4c9a907
2:39249932 SOS1 T>G	2	39249932	39249932	T	G	SOS1	c.1637A>C	NM_005633.4	NP_005624.2:p.(Tyr546Ser)	NC_000002.11:g.39249932T>G	VUS	1 lab	40c93bbe2d
6:112457425 LAMA4 C>A	6	112457425	112457425	C	A	LAMA4	c.3314G>T	NM_001105206.3	NP_001098676.2:p.(Gly1105Val)	NC_000006.11:g.112457425C>A	VUS	1 lab	40d658144c
9:138678316 KCNT1 G>A	9	138678316	138678316	G	A	KCNT1	c.3451G>A	NM_020822.3	NP_065873.2:p.(Glu1151Lys)	NC_000009.11:g.138678316G>A	VUS	1 lab	40d8ae8386
4:533040 PIGG T>G	4	533040	533040	T	G	PIGG	c.2834T>G	NM_001127178.3	NP_001120650.1:p.(Leu945Ter)	NC_000004.11:g.533040T>G	(Likely) pathogenic	1 lab	40db01ce1a
1:39877495 MACF1 C>T	1	39877495	39877495	C	T	MACF1	c.9631-10551C>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39877495C>T	(Likely) benign	1 lab	40e2f9337e
20:31379479 DNMT3B G>A	20	31379479	31379479	G	A	DNMT3B	c.886G>A	NM_006892.4	NP_008823.1:p.(Val296Ile)	NC_000020.10:g.31379479G>A	VUS	1 lab	40e3342cf6
2:179421813 TTN C>T	2	179421813	179421813	C	T	TTN	c.80364G>A	NM_133378.4	NP_596869.4:p.(Trp26788Ter)	NC_000002.11:g.179421813C>T	(Likely) pathogenic	1 lab	40e414b6f5
4:5746952 EVC G>A	4	5746952	5746952	G	A	EVC	c.823G>A	NM_153717.3	NP_714928.1:p.(Gly275Arg)	NC_000004.11:g.5746952G>A	VUS	1 lab	40e4b72e53
9:35657906 RMRP G>A	9	35657906	35657906	G	A	RMRP	n.110C>T	NR_003051.3		NC_000009.11:g.35657906G>A	VUS	1 lab	4172797182
2:32476111 NLRC4 C>G	2	32476111	32476111	C	G	NLRC4	c.822G>C	NM_021209.4	NP_067032.3:p.(Met274Ile)	NC_000002.11:g.32476111C>G	(Likely) benign	1 lab	40ef765a8f
2:48033438 MSH6 C>CACTACCATTCATTAGTAGAAGATTATTCTCAAAATGTTGCT	2	48033438	48033479	C	CACTACCATTCATTAGTAGAAGATTATTCTCAAAATGTTGCT	MSH6	c.3743_3783dup	NM_000179.3	NP_000170.1:p.(Val1262ThrfsTer5)	NC_000002.11:g.48033439_48033479dup	(Likely) pathogenic	1 lab	40f1cfcc62
16:4940316 PPL C>T	16	4940316	4940316	C	T	PPL	c.2182G>A	NM_002705.5	NP_002696.4:p.(Ala728Thr)	NC_000016.9:g.4940316C>T	VUS	1 lab	40f5425676
1:155581864 MSTO1 C>G	1	155581864	155581864	C	G	MSTO1	c.651C>G	NM_018116.4	NP_060586.2:p.(Phe217Leu)	NC_000001.10:g.155581864C>G	(Likely) pathogenic	1 lab	40f61739c4
7:103131257 RELN C>T	7	103131257	103131257	C	T	RELN	c.9463G>A	NM_005045.4	NP_005036.2:p.(Val3155Ile)	NC_000007.13:g.103131257C>T	VUS	1 lab	40f677d399
17:74539092 PRCD C>T	17	74539092	74539092	C	T	PRCD	c.*60-19C>T	NM_001077620.3	NP_001071088.1:p.?	NC_000017.10:g.74539092C>T	(Likely) benign	1 lab	40fb35d452
5:140957804 DIAPH1 C>T	5	140957804	140957804	C	T	DIAPH1	c.1151G>A	NM_005219.5	NP_005210.3:p.(Arg384His)	NC_000005.9:g.140957804C>T	VUS	1 lab	40fba01732
12:110780227 ATP2A2 CTCG>C	12	110780227	110780232	CTCG	C	ATP2A2	c.2295_2297del	NM_001681.4	NP_001672.1:p.(Ser766del)	NC_000012.11:g.110780230_110780232del	VUS	1 lab	40fbc1be08
10:82034262 MAT1A G>A	10	82034262	82034262	G	A	MAT1A	c.1085+14C>T	NM_000429.3	NP_000420.1:p.?	NC_000010.10:g.82034262G>A	(Likely) benign	1 lab	40fdf2b2fb
7:128850348 SMO G>A	7	128850348	128850348	G	A	SMO	c.1611G>A	NM_005631.5	NP_005622.1:p.(Trp537Ter)	NC_000007.13:g.128850348G>A	(Likely) pathogenic	1 lab	4101e89b9c
8:17486138 PDGFRL C>A	8	17486138	17486138	C	A	PDGFRL	c.648C>A	NM_006207.2	NP_006198.1:p.(Ile216=)	NC_000008.10:g.17486138C>A	(Likely) benign	1 lab	410a90f3dc
6:112471688 LAMA4 G>C	6	112471688	112471688	G	C	LAMA4	c.2173+25C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112471688G>C	(Likely) benign	1 lab	410c370670
17:41246579 BRCA1 T>A	17	41246579	41246579	T	A	BRCA1	c.969A>T	NM_007294.4	NP_009225.1:p.(Gly323=)	NC_000017.10:g.41246579T>A	(Likely) benign	1 lab	410c497c75
11:6411935 SMPD1 TGCTGGCGCTGGC>T	11	6411935	6411971	TGCTGGCGCTGGC	T	SMPD1	c.132_143del	NM_000543.5	NP_000534.3:p.(Ala46_Leu49del)	NC_000011.9:g.6411960_6411971del	(Likely) benign	1 lab	410ca27fc5
18:43496474 EPG5 G>A	18	43496474	43496474	G	A	EPG5	c.3313C>T	NM_020964.3	NP_066015.2:p.(His1105Tyr)	NC_000018.9:g.43496474G>A	VUS	1 lab	411508f21a
7:150645607 KCNH2 C>T	7	150645607	150645607	C	T	KCNH2	c.2617G>A	NM_000238.4	NP_000229.1:p.(Gly873Ser)	NC_000007.13:g.150645607C>T	(Likely) benign	1 lab	41169a7aeb
14:100706140 YY1 AGCGGCGGGGCCGGC>A	14	100706140	100706162	AGCGGCGGGGCCGGC	A	YY1	c.568_581del	NM_003403.5	NP_003394.1:p.(Ala190ArgfsTer34)	NC_000014.8:g.100706149_100706162del	(Likely) pathogenic	1 lab	41169cfbce
6:32551879 HLA-DRB1 T>C	6	32551879	32551879	T	C	HLA-DRB1	c.370+7A>G	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32551879T>C	(Likely) benign	1 lab	4116fb8860
18:21437917 LAMA3 G>A	18	21437917	21437917	G	A	LAMA3	c.4246G>A	NM_001127717.4	NP_001121189.2:p.(Val1416Met)	NC_000018.9:g.21437917G>A	VUS	1 lab	411b50bd9f
6:7580621 DSP C>T	6	7580621	7580621	C	T	DSP	c.4198C>T	NM_004415.4	NP_004406.2:p.(Arg1400Ter)	NC_000006.11:g.7580621C>T	(Likely) pathogenic	1 lab	411d7f0cd8
16:3712129 TRAP1 G>A	16	3712129	3712129	G	A	TRAP1	c.1799C>T	NM_016292.3	NP_057376.2:p.(Thr600Ile)	NC_000016.9:g.3712129G>A	VUS	1 lab	41258dc092
1:39799621 MACF1 CAGTT>C	1	39799621	39799627	CAGTT	C	MACF1	c.7364_7367del	NM_001394062.1	NP_001380991.1:p.(Val2455GlyfsTer4)	NC_000001.10:g.39799624_39799627del	VUS	1 lab	412bc9a5f2
19:46057174 OPA3 G>T	19	46057174	46057174	G	T	OPA3	c.143-5C>A	NM_025136.4	NP_079412.1:p.?	NC_000019.9:g.46057174G>T	VUS	1 lab	41302124c6
6:32632782 HLA-DQB1 G>C	6	32632782	32632782	G	C	HLA-DQB1	c.172C>G	NM_001243961.2	NP_001230890.1:p.(Leu58Val)	NC_000006.11:g.32632782G>C	(Likely) benign	1 lab	4131920fe7
22:50666444 TUBGCP6 C>T	22	50666444	50666444	C	T	TUBGCP6	c.1304G>A	NM_020461.4	NP_065194.3:p.(Gly435Asp)	NC_000022.10:g.50666444C>T	VUS	1 lab	4135402ca5
17:1630395 WDR81 T>C	17	1630395	1630395	T	C	WDR81	c.2142T>C	NM_001163809.2	NP_001157281.1:p.(Gly714=)	NC_000017.10:g.1630395T>C	(Likely) benign	1 lab	4137e07fee
18:29125698 DSG2 C>A	18	29125698	29125698	C	A	DSG2	c.2349C>A	NM_001943.5	NP_001934.2:p.(Tyr783Ter)	NC_000018.9:g.29125698C>A	(Likely) pathogenic	1 lab	413b5b1c4d
13:35619463 NBEA A>T	13	35619463	35619463	A	T	NBEA	c.648A>T	NM_015678.5	NP_056493.3:p.(Leu216Phe)	NC_000013.10:g.35619463A>T	VUS	1 lab	413c79fcbb
1:237604651 RYR2 A>G	1	237604651	237604651	A	G	RYR2	c.1038A>G	NM_001035.3	NP_001026.2:p.(Val346=)	NC_000001.10:g.237604651A>G	(Likely) benign	1 lab	413da53442
10:75612995 CAMK2G T>C	10	75612995	75612995	T	C	CAMK2G	c.230A>G	NM_172171.3	NP_751911.1:p.(His77Arg)	NC_000010.10:g.75612995T>C	VUS	1 lab	4144199e35
3:131186907 MRPL3 GA>G	3	131186907	131186916	GA	G	MRPL3	c.894+27del	NM_007208.4	NP_009139.1:p.?	NC_000003.11:g.131186916del	(Likely) benign	1 lab	414468d465
3:58112451 FLNB A>G	3	58112451	58112451	A	G	FLNB	c.4184A>G	NM_001457.4	NP_001448.2:p.(Tyr1395Cys)	NC_000003.11:g.58112451A>G	VUS	1 lab	41467bf6c0
8:87076708 PSKH2 C>T	8	87076708	87076708	C	T	PSKH2	c.338G>A	NM_033126.3	NP_149117.1:p.(Arg113Gln)	NC_000008.10:g.87076708C>T	VUS	1 lab	414bae9ef8
2:240946766 NDUFA10 T>C	2	240946766	240946766	T	C	NDUFA10	c.771A>G	NM_004544.4	NP_004535.1:p.(Gln257=)	NC_000002.11:g.240946766T>C	(Likely) benign	1 lab	4150a523e5
12:49425707 KMT2D G>C	12	49425707	49425707	G	C	KMT2D	c.12781C>G	NM_003482.4	NP_003473.3:p.(Pro4261Ala)	NC_000012.11:g.49425707G>C	VUS	1 lab	4151adb2fc
4:146576449 MMAA A>G	4	146576449	146576449	A	G	MMAA	c.1120A>G	NM_172250.3	NP_758454.1:p.(Ser374Gly)	NC_000004.11:g.146576449A>G	VUS	1 lab	4157771ec0
11:22284509 ANO5 T>C	11	22284509	22284509	T	C	ANO5	c.1818T>C	NM_213599.3	NP_998764.1:p.(Cys606=)	NC_000011.9:g.22284509T>C	(Likely) benign	1 lab	4158aae08f
5:161576292 GABRG2 G>T	5	161576292	161576292	G	T	GABRG2	c.1101G>T	NM_000816.3	NP_000807.2:p.(Lys367Asn)	NC_000005.9:g.161576292G>T	VUS	1 lab	415b009a05
9:140773612 CACNA1B G>GACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC	9	140773612	140773613	G	GACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC	CACNA1B	c.390+1_390+2insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140773612_140773613insACGACACGGAGCCCTATTTCATCGGGATCTTTTGCTTCGAGGCAGGGATCAAAATCATCGCTC	(Likely) benign	1 lab	415fad8817
X:32717267 DMD G>T	X	32717267	32717267	G	T	DMD	c.793C>A	NM_004006.3	NP_003997.2:p.(His265Asn)	NC_000023.10:g.32717267G>T	VUS	1 lab	41606f9284
8:48776142 PRKDC C>T	8	48776142	48776142	C	T	PRKDC	c.5572-4G>A	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48776142C>T	(Likely) benign	1 lab	4165de34e0
14:93693422 UBR7 C>T	14	93693422	93693422	C	T	UBR7	n.1221C>T	NR_038150.2		NC_000014.8:g.93693422C>T	(Likely) benign	1 lab	4169a9be5d
2:47672729 MSH2 T>A	2	47672729	47672729	T	A	MSH2	c.1319T>A	NM_000251.3	NP_000242.1:p.(Leu440His)	NC_000002.11:g.47672729T>A	(Likely) pathogenic	1 lab	416d3d93fd
3:150876590 MED12L T>C	3	150876590	150876590	T	C	MED12L	c.837+4T>C	NM_053002.6	NP_443728.3:p.?	NC_000003.11:g.150876590T>C	(Likely) benign	1 lab	4171fe8826
18:29046481 DSG3 T>C	18	29046481	29046481	T	C	DSG3	c.1412-12T>C	NM_001944.3	NP_001935.2:p.?	NC_000018.9:g.29046481T>C	(Likely) benign	1 lab	4173a8a3a4
19:39991237 DLL3 C>G	19	39991237	39991237	C	G	DLL3	c.352-18C>G	NM_016941.4	NP_058637.1:p.?	NC_000019.9:g.39991237C>G	(Likely) benign	1 lab	41740fe04b
11:2718296 KCNQ1OT1 A>G	11	2718296	2718296	A	G	KCNQ1OT1	n.2933T>C	NR_002728.3		NC_000011.9:g.2718296A>G	VUS	1 lab	4174c4eeab
15:48739025 FBN1 A>G	15	48739025	48739025	A	G	FBN1	c.5672-6T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48739025A>G	(Likely) benign	1 lab	417eb07dfa
14:50641224 SOS2 C>T	14	50641224	50641224	C	T	SOS2	c.1016G>A	NM_006939.4	NP_008870.2:p.(Arg339His)	NC_000014.8:g.50641224C>T	VUS	1 lab	418176d6ce
11:837582 CD151 G>A	11	837582	837582	G	A	CD151	c.579G>A	NM_004357.5	NP_004348.2:p.(Gly193=)	NC_000011.9:g.837582G>A	(Likely) benign	1 lab	4187c7a24d
X:32360387 DMD C>A	X	32360387	32360387	C	A	DMD	c.5752G>T	NM_004006.3	NP_003997.2:p.(Glu1918Ter)	NC_000023.10:g.32360387C>A	(Likely) pathogenic	1 lab	4188982718
2:203242244 BMPR2 G>A	2	203242244	203242244	G	A	BMPR2	c.47G>A	NM_001204.7	NP_001195.2:p.(Trp16Ter)	NC_000002.11:g.203242244G>A	(Likely) pathogenic	1 lab	418eab9087
16:2809005 SRRM2 C>T	16	2809005	2809005	C	T	SRRM2	c.613C>T	NM_016333.4	NP_057417.3:p.(Pro205Ser)	NC_000016.9:g.2809005C>T	VUS	1 lab	419117c26a
12:52914007 KRT5 G>A	12	52914007	52914007	G	A	KRT5	c.74C>T	NM_000424.4	NP_000415.2:p.(Pro25Leu)	NC_000012.11:g.52914007G>A	(Likely) pathogenic	1 lab	4194f71045
2:230668325 TRIP12 T>C	2	230668325	230668325	T	C	TRIP12	c.2735A>G	NM_004238.3	NP_004229.1:p.(Lys912Arg)	NC_000002.11:g.230668325T>C	VUS	1 lab	41971e95a7
2:121746891 GLI2 C>T	2	121746891	121746891	C	T	GLI2	c.3401C>T	NM_005270.5	NP_005261.2:p.(Pro1134Leu)	NC_000002.11:g.121746891C>T	VUS	1 lab	41a3b89a6b
5:131066725 FNIP1 C>A	5	131066725	131066725	C	A	FNIP1	c.226G>T	NM_133372.3	NP_588613.3:p.(Gly76Cys)	NC_000005.9:g.131066725C>A	(Likely) benign	1 lab	41a512aa5e
1:1959698 GABRD C>T	1	1959698	1959698	C	T	GABRD	c.658C>T	NM_000815.5	NP_000806.2:p.(Arg220Cys)	NC_000001.10:g.1959698C>T	(Likely) benign	1 lab	41a56d1480
17:46608184 HOXB1 G>GGGGCGCTGT	17	46608184	46608202	G	GGGGCGCTGT	HOXB1	c.74_82dup	NM_002144.4	NP_002135.2:p.(His25_Ala27dup)	NC_000017.10:g.46608194_46608202dup	(Likely) benign	1 lab	41a7a6b02d
17:41246672 BRCA1 GA>G	17	41246672	41246673	GA	G	BRCA1	c.875del	NM_007294.4	NP_009225.1:p.(Leu292ProfsTer6)	NC_000017.10:g.41246673del	(Likely) pathogenic	1 lab	41a7ba83c9
1:154228169 UBAP2L A>G	1	154228169	154228169	A	G	UBAP2L	c.2095A>G	NM_014847.4	NP_055662.3:p.(Thr699Ala)	NC_000001.10:g.154228169A>G	(Likely) benign	1 lab	41ab7af825
3:191093053 CCDC50 T>C	3	191093053	191093053	T	C	CCDC50	c.651T>C	NM_178335.3	NP_848018.1:p.(His217=)	NC_000003.11:g.191093053T>C	(Likely) benign	1 lab	41b45ef996
17:59543299 TBX4 G>C	17	59543299	59543299	G	C	TBX4	c.401G>C	NM_018488.3	NP_060958.2:p.(Trp134Ser)	NC_000017.10:g.59543299G>C	VUS	1 lab	41b64b26b1
10:75854134 VCL G>A	10	75854134	75854134	G	A	VCL	c.1458G>A	NM_014000.3	NP_054706.1:p.(Pro486=)	NC_000010.10:g.75854134G>A	(Likely) benign	1 lab	41b7a75ed0
19:36211822 KMT2B C>T	19	36211822	36211822	C	T	KMT2B	c.1573C>T	NM_014727.3	NP_055542.1:p.(Arg525Trp)	NC_000019.9:g.36211822C>T	VUS	1 lab	41c25eb034
8:55371798 SOX17 AGGCGGCCGCGCTGGGCCCCGAG>A	8	55371798	55371830	AGGCGGCCGCGCTGGGCCCCGAG	A	SOX17	c.499_520del	NM_022454.4	NP_071899.1:p.(Leu167TrpfsTer213)	NC_000008.10:g.55371809_55371830del	(Likely) pathogenic	1 lab	41c30773ec
10:73567476 CDH23 G>A	10	73567476	73567476	G	A	CDH23	c.8512G>A	NM_022124.6	NP_071407.4:p.(Asp2838Asn)	NC_000010.10:g.73567476G>A	VUS	1 lab	41c73ff7ab
1:152280341 FLG A>T	1	152280341	152280341	A	T	FLG	c.7021T>A	NM_002016.2	NP_002007.1:p.(Ser2341Thr)	NC_000001.10:g.152280341A>T	VUS	1 lab	41c97066db
17:39929288 JUP C>T	17	39929288	39929288	C	T	JUP	c.-8-1174G>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39929288C>T	VUS	1 lab	41cdcae2be
12:52911531 KRT5 G>A	12	52911531	52911531	G	A	KRT5	c.935C>T	NM_000424.4	NP_000415.2:p.(Ser312Phe)	NC_000012.11:g.52911531G>A	VUS	1 lab	41cf034ad1
13:32930672 BRCA2 AC>A	13	32930672	32930673	AC	A	BRCA2	c.7544del	NM_000059.4	NP_000050.3:p.(Thr2515AsnfsTer9)	NC_000013.10:g.32930673del	(Likely) pathogenic	1 lab	41d249173d
17:57761314 CLTC A>G	17	57761314	57761314	A	G	CLTC	c.4414A>G	NM_001288653.2	NP_001275582.1:p.(Asn1472Asp)	NC_000017.10:g.57761314A>G	VUS	1 lab	41d56e0b6a
1:152327810 FLG2 C>A	1	152327810	152327810	C	A	FLG2	c.2452G>T	NM_001014342.3	NP_001014364.1:p.(Ala818Ser)	NC_000001.10:g.152327810C>A	VUS	1 lab	41d61c621d
7:107564536 LAMB1 TGG>T	7	107564536	107564540	TGG	T	LAMB1	c.5225-6_5225-5del	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107564539_107564540del	(Likely) benign	1 lab	41d61f10c0
4:123168389 BLTP1 A>G	4	123168389	123168389	A	G	BLTP1	c.5389A>G	NM_015312.4	NP_056127.2:p.(Lys1797Glu)	NC_000004.11:g.123168389A>G	VUS	1 lab	41d9635f1a
4:152681952 GATB A>G	4	152681952	152681952	A	G	GATB	c.176+7T>C	NM_004564.3	NP_004555.1:p.?	NC_000004.11:g.152681952A>G	(Likely) benign	1 lab	41dcde8fd7
2:179434142 TTN G>A	2	179434142	179434142	G	A	TTN	c.76717C>T	NM_001267550.2	NP_001254479.2:p.(Arg25573Ter)	NC_000002.11:g.179434142G>A	(Likely) pathogenic	1 lab	41e06acda4
9:140043504 GRIN1 C>T	9	140043504	140043504	C	T	GRIN1	c.614C>T	NM_007327.4	NP_015566.1:p.(Thr205Met)	NC_000009.11:g.140043504C>T	VUS	1 lab	41e08ccfef
2:233398937 CHRND G>A	2	233398937	233398937	G	A	CHRND	c.1256G>A	NM_000751.3	NP_000742.1:p.(Arg419Gln)	NC_000002.11:g.233398937G>A	VUS	1 lab	41e3867ecd
19:13410102 CACNA1A C>G	19	13410102	13410102	C	G	CACNA1A	c.2357G>C	NM_023035.3	NP_075461.2:p.(Arg786Pro)	NC_000019.9:g.13410102C>G	VUS	1 lab	41e7f24cfc
17:45811210 TBX21 A>G	17	45811210	45811210	A	G	TBX21	c.390A>G	NM_013351.2	NP_037483.1:p.(Gly130=)	NC_000017.10:g.45811210A>G	(Likely) benign	1 lab	41e8af980e
8:145617534 ADCK5 T>TGGGGGTGCAAGGTGA	8	145617534	145617567	T	TGGGGGTGCAAGGTGA	ADCK5	c.1260_1267+7dup	NM_174922.5	NP_777582.4:p.?	NC_000008.10:g.145617553_145617567dup	(Likely) benign	1 lab	41eb38ecc6
1:235963635 LYST C>T	1	235963635	235963635	C	T	LYST	c.3991G>A	NM_000081.4	NP_000072.2:p.(Asp1331Asn)	NC_000001.10:g.235963635C>T	VUS	1 lab	41ecaaaaa0
5:126156773 LMNB1 C>T	5	126156773	126156773	C	T	LMNB1	c.1332C>T	NM_005573.4	NP_005564.1:p.(Ile444=)	NC_000005.9:g.126156773C>T	(Likely) benign	1 lab	41efa41ec9
16:8841960 ABAT T>C	16	8841960	8841960	T	C	ABAT	c.169-5T>C	NM_000663.5	NP_000654.2:p.?	NC_000016.9:g.8841960T>C	(Likely) benign	1 lab	42803e3579
2:179640572 TTN C>A	2	179640572	179640572	C	A	TTN	c.6019G>T	NM_001267550.2	NP_001254479.2:p.(Glu2007Ter)	NC_000002.11:g.179640572C>A	(Likely) pathogenic	1 lab	41efb2fbfb
12:53071200 KRT1 C>T	12	53071200	53071200	C	T	KRT1	c.1028G>A	NM_006121.4	NP_006112.3:p.(Arg343His)	NC_000012.11:g.53071200C>T	VUS	1 lab	41f26cee5b
17:38975103 KRT10 A>AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	17	38975103	38975147	A	AGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCT	KRT10	c.1683_1684insAGCTCCGGCGGCGGATACGGCGGCGGCAGCAGCTCCGGCGGCGGATACGGCGGCGGCAGC	NM_000421.5	NP_000412.4:p.(Gly565_His566insGlyTyrGlyGlyGlySerSerSerGlyGlyGlyTyrGlyGlyGlySerSerSerGlyGly)	NC_000017.10:g.38975146_38975147insTATCCGCCGCCGGAGCTGCTGCCGCCGCCGTATCCGCCGCCGGAGCTGCTGCCGCCGCCG	(Likely) benign	1 lab	41f810b512
15:52681573 MYO5A A>G	15	52681573	52681573	A	G	MYO5A	c.1543-13T>C	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52681573A>G	(Likely) benign	1 lab	41fccc7409
17:39912427 JUP C>T	17	39912427	39912427	C	T	JUP	c.2086G>A	NM_002230.4	NP_002221.1:p.(Asp696Asn)	NC_000017.10:g.39912427C>T	VUS	1 lab	41fda4e064
1:22207804 HSPG2 ACCCAGGGTGGCAG>A	1	22207804	22207823	ACCCAGGGTGGCAG	A	HSPG2	c.1818+15_1818+27del	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22207811_22207823del	(Likely) benign	1 lab	4202bd8539
16:30976732 SETD1A G>C	16	30976732	30976732	G	C	SETD1A	c.1669G>C	NM_014712.3	NP_055527.1:p.(Gly557Arg)	NC_000016.9:g.30976732G>C	VUS	1 lab	420379d496
20:3211719 SLC4A11 T>G	20	3211719	3211719	T	G	SLC4A11	c.1172-15A>C	NM_001174090.2	NP_001167561.1:p.?	NC_000020.10:g.3211719T>G	(Likely) benign	1 lab	4210174df0
3:122060397 CSTA G>A	3	122060397	122060397	G	A	CSTA	c.280G>A	NM_005213.4	NP_005204.1:p.(Glu94Lys)	NC_000003.11:g.122060397G>A	VUS	1 lab	42183c996c
10:75391847 MYOZ1 C>G	10	75391847	75391847	C	G	MYOZ1	c.741G>C	NM_021245.4	NP_067068.1:p.(Leu247=)	NC_000010.10:g.75391847C>G	(Likely) benign	1 lab	421a1be1de
16:1616270 IFT140 T>C	16	1616270	1616270	T	C	IFT140	c.1793A>G	NM_014714.4	NP_055529.2:p.(Lys598Arg)	NC_000016.9:g.1616270T>C	VUS	1 lab	4227ad6e3c
2:230724301 TRIP12 A>G	2	230724301	230724301	A	G	TRIP12	c.99-11T>C	NM_004238.3	NP_004229.1:p.?	NC_000002.11:g.230724301A>G	(Likely) benign	1 lab	422b3ad963
7:73922487 GTF2IRD1 G>A	7	73922487	73922487	G	A	GTF2IRD1	c.77G>A	NM_016328.3	NP_057412.1:p.(Arg26His)	NC_000007.13:g.73922487G>A	VUS	1 lab	4231db54e9
19:45452436 APOC2 C>T	19	45452436	45452436	C	T	APOC2	c.236C>T	NM_000483.5	NP_000474.2:p.(Thr79Ile)	NC_000019.9:g.45452436C>T	VUS	1 lab	4233381421
2:179610993 TTN C>A	2	179610993	179610993	C	A	TTN	c.16134G>T	NM_133379.5	NP_596870.2:p.(Met5378Ile)	NC_000002.11:g.179610993C>A	(Likely) benign	1 lab	4243beae14
17:26727721 SARM1 GA>G	17	26727721	26727723	GA	G	SARM1	c.*4420_*4421=	NM_015077.4	NP_055892.2:p.?	NC_000017.10:g.26727723del	(Likely) benign	1 lab	4244daca9f
16:354287 AXIN1 C>T	16	354287	354287	C	T	AXIN1	c.1254+17G>A	NM_003502.4	NP_003493.1:p.?	NC_000016.9:g.354287C>T	(Likely) benign	1 lab	42461fa04c
15:73624577 HCN4 G>A	15	73624577	73624577	G	A	HCN4	c.1266C>T	NM_005477.3	NP_005468.1:p.(Ile422=)	NC_000015.9:g.73624577G>A	(Likely) benign	1 lab	42488ea22c
11:6636499 TPP1 T>C	11	6636499	6636499	T	C	TPP1	c.1328A>G	NM_000391.4	NP_000382.3:p.(Asn443Ser)	NC_000011.9:g.6636499T>C	VUS	1 lab	424a3571b0
19:48204894 BICRA C>T	19	48204894	48204894	C	T	BICRA	c.3905C>T	NM_015711.3	NP_056526.3:p.(Ala1302Val)	NC_000019.9:g.48204894C>T	VUS	1 lab	424d3d35bc
2:168105858 XIRP2 A>C	2	168105858	168105858	A	C	XIRP2	c.7290A>C	NM_001199144.2	NP_001186073.1:p.(Lys2430Asn)	NC_000002.11:g.168105858A>C	VUS	1 lab	42549ff6fc
11:62287085 AHNAK G>A	11	62287085	62287085	G	A	AHNAK	c.14804C>T	NM_001620.3	NP_001611.1:p.(Pro4935Leu)	NC_000011.9:g.62287085G>A	VUS	1 lab	4256c3b952
Y:595475 SHOX C>T	Y	595475	595475	C	T	SHOX	c.400C>T	NM_000451.3	NP_000442.1:p.(Arg134Ter)	NC_000023.10:g.595475C>T	(Likely) pathogenic	1 lab	42578b4184
16:88800834 PIEZO1 G>A	16	88800834	88800834	G	A	PIEZO1	c.2110C>T	NM_001142864.4	NP_001136336.2:p.(Pro704Ser)	NC_000016.9:g.88800834G>A	VUS	1 lab	425870474c
9:135797222 TSC1 A>G	9	135797222	135797222	A	G	TSC1	c.647T>C	NM_000368.5	NP_000359.1:p.(Phe216Ser)	NC_000009.11:g.135797222A>G	(Likely) pathogenic	1 lab	425b8216b7
16:333193 PDIA2 A>ACTG	16	333193	333210	A	ACTG	PDIA2	c.39_41dup	NM_006849.4	NP_006840.2:p.(Leu14dup)	NC_000016.9:g.333208_333210dup	(Likely) benign	1 lab	425ffbc262
6:111701356 REV3L C>A	6	111701356	111701356	C	A	REV3L	c.1049G>T	NM_001286431.2	NP_001273360.1:p.(Gly350Val)	NC_000006.11:g.111701356C>A	VUS	1 lab	426279791c
2:98351822 ZAP70 A>G	2	98351822	98351822	A	G	ZAP70	c.1192A>G	NM_001079.4	NP_001070.2:p.(Ile398Val)	NC_000002.11:g.98351822A>G	VUS	1 lab	42640eebbb
20:10626646 JAG1 C>T	20	10626646	10626646	C	T	JAG1	c.1972G>A	NM_000214.3	NP_000205.1:p.(Gly658Ser)	NC_000020.10:g.10626646C>T	VUS	1 lab	4267975ba6
1:111147370 KCNA2 G>A	1	111147370	111147370	G	A	KCNA2	c.35C>T	NM_004974.4	NP_004965.1:p.(Ala12Val)	NC_000001.10:g.111147370G>A	(Likely) benign	1 lab	42700f824b
2:179504804 TTN G>GCC	2	179504804	179504806	G	GCC	TTN	c.40756_40757insGG	NM_001267550.2	NP_001254479.2:p.(Ala13586GlyfsTer13)	NC_000002.11:g.179504805_179504806insCC	(Likely) pathogenic	1 lab	4270fe475d
13:32906718 BRCA2 C>G	13	32906718	32906718	C	G	BRCA2	c.1103C>G	NM_000059.4	NP_000050.3:p.(Ser368Ter)	NC_000013.10:g.32906718C>G	(Likely) pathogenic	1 lab	4271f1c520
15:90210263 PLIN1 A>G	15	90210263	90210263	A	G	PLIN1	c.1113T>C	NM_002666.5	NP_002657.3:p.(Pro371=)	NC_000015.9:g.90210263A>G	(Likely) benign	1 lab	4272d69a0d
17:38976626 KRT10 A>G	17	38976626	38976626	A	G	KRT10	c.917T>C	NM_000421.5	NP_000412.4:p.(Met306Thr)	NC_000017.10:g.38976626A>G	(Likely) pathogenic	1 lab	4274b51ac5
7:1511214 INTS1 A>C	7	1511214	1511214	A	C	INTS1	c.6248T>G	NM_001080453.3	NP_001073922.2:p.(Phe2083Cys)	NC_000007.13:g.1511214A>C	VUS	1 lab	427deb4d3d
2:96920572 TMEM127 C>A	2	96920572	96920572	C	A	TMEM127	c.408G>T	NM_017849.4	NP_060319.1:p.(Thr136=)	NC_000002.11:g.96920572C>A	(Likely) benign	1 lab	d9ddcf5c48
11:119216231 C1QTNF5 A>G	11	119216231	119216231	A	G	C1QTNF5	c.-2097T>C	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216231A>G	(Likely) benign	1 lab	42842f8b03
4:1090625 RNF212 G>A	4	1090625	1090625	G	A	RNF212	c.174C>T	NM_001131034.4	NP_001124506.1:p.(Thr58=)	NC_000004.11:g.1090625G>A	(Likely) benign	1 lab	428ad405d9
14:102482798 DYNC1H1 C>T	14	102482798	102482798	C	T	DYNC1H1	c.7586C>T	NM_001376.5	NP_001367.2:p.(Ala2529Val)	NC_000014.8:g.102482798C>T	VUS	1 lab	428e8d4f19
18:21416955 LAMA3 C>T	18	21416955	21416955	C	T	LAMA3	c.2995C>T	NM_198129.4	NP_937762.2:p.(Arg999Trp)	NC_000018.9:g.21416955C>T	VUS	1 lab	4290312839
1:20416376 PLA2G5 G>C	1	20416376	20416376	G	C	PLA2G5	c.280G>C	NM_000929.3	NP_000920.1:p.(Val94Leu)	NC_000001.10:g.20416376G>C	(Likely) benign	1 lab	4291b4d21a
2:25982347 ASXL2 G>A	2	25982347	25982347	G	A	ASXL2	c.939+4C>T	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25982347G>A	(Likely) benign	1 lab	42995fb427
12:40653317 LRRK2 C>T	12	40653317	40653317	C	T	LRRK2	c.1454C>T	NM_198578.4	NP_940980.4:p.(Pro485Leu)	NC_000012.11:g.40653317C>T	VUS	1 lab	429ea85359
11:4112558 STIM1 C>T	11	4112558	4112558	C	T	STIM1	c.1588C>T	NM_003156.4	NP_003147.2:p.(Arg530Cys)	NC_000011.9:g.4112558C>T	VUS	1 lab	429eabdac5
17:41243460 BRCA1 G>C	17	41243460	41243460	G	C	BRCA1	c.4088C>G	NM_007294.4	NP_009225.1:p.(Ser1363Ter)	NC_000017.10:g.41243460G>C	(Likely) pathogenic	1 lab	429f3b163a
20:61986863 CHRNA4 C>G	20	61986863	61986863	C	G	CHRNA4	c.383+464G>C	NM_000744.7	NP_000735.1:p.?	NC_000020.10:g.61986863C>G	(Likely) benign	1 lab	42a6974047
X:24234323 ZFX G>C	X	24234323	24234323	G	C	ZFX	c.*4830G>C	NM_003410.4	NP_003401.2:p.?	NC_000023.10:g.24234323G>C	VUS	1 lab	42a6cdd487
6:7182246 RREB1 C>T	6	7182246	7182246	C	T	RREB1	c.102C>T	NM_001003699.4	NP_001003699.1:p.(Gly34=)	NC_000006.11:g.7182246C>T	(Likely) benign	1 lab	42a98ea60f
2:21266800 APOB G>A	2	21266800	21266800	G	A	APOB	c.18C>T	NM_000384.3	NP_000375.3:p.(Pro6=)	NC_000002.11:g.21266800G>A	(Likely) benign	1 lab	42aaadfb09
4:84191042 COQ2 G>C	4	84191042	84191042	G	C	COQ2	c.883C>G	NM_015697.9	NP_056512.5:p.(Leu295Val)	NC_000004.11:g.84191042G>C	VUS	1 lab	42aad030d1
15:93515109 CHD2 TA>T	15	93515109	93515112	TA	T	CHD2	c.2307del	NM_001271.4	NP_001262.3:p.(Lys769AsnfsTer19)	NC_000015.9:g.93515112del	(Likely) pathogenic	1 lab	42ae558efd
7:27135313 HOXA1 GCGA>G	7	27135313	27135316	GCGA	G	HOXA1	c.216_218del	NM_005522.5	NP_005513.2:p.(Arg73del)	NC_000007.13:g.27135314_27135316del	(Likely) benign	1 lab	42af382ee3
14:23586845 CEBPE G>C	14	23586845	23586845	G	C	CEBPE	c.697C>G	NM_001805.4	NP_001796.2:p.(Gln233Glu)	NC_000014.8:g.23586845G>C	VUS	1 lab	42b1d41053
11:66103156 RIN1 G>C	11	66103156	66103156	G	C	RIN1	c.383-3C>G	NM_004292.3	NP_004283.2:p.?	NC_000011.9:g.66103156G>C	(Likely) benign	1 lab	42b413baea
12:49438225 KMT2D C>T	12	49438225	49438225	C	T	KMT2D	c.5044G>A	NM_003482.4	NP_003473.3:p.(Glu1682Lys)	NC_000012.11:g.49438225C>T	VUS	1 lab	42b436ec45
16:70916706 HYDIN C>T	16	70916706	70916706	C	T	HYDIN	c.10072G>A	NM_001270974.2	NP_001257903.1:p.(Gly3358Arg)	NC_000016.9:g.70916706C>T	VUS	1 lab	42b63337f7
12:22013899 ABCC9 G>C	12	22013899	22013899	G	C	ABCC9	c.2424+6C>G	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22013899G>C	VUS	1 lab	42bb9cbb44
11:67258282 AIP C>T	11	67258282	67258282	C	T	AIP	c.811C>T	NM_003977.4	NP_003968.3:p.(Arg271Trp)	NC_000011.9:g.67258282C>T	(Likely) pathogenic	1 lab	42bf571d71
9:123210302 CDK5RAP2 T>A	9	123210302	123210302	T	A	CDK5RAP2	c.2896A>T	NM_018249.6	NP_060719.4:p.(Ser966Cys)	NC_000009.11:g.123210302T>A	VUS	1 lab	42bf899e1e
2:219925122 IHH G>A	2	219925122	219925122	G	A	IHH	c.68C>T	NM_002181.4	NP_002172.2:p.(Pro23Leu)	NC_000002.11:g.219925122G>A	VUS	1 lab	42c208438c
8:145007459 PLEC A>T	8	145007459	145007459	A	T	PLEC	c.1405T>A	NM_000445.5	NP_000436.2:p.(Leu469Met)	NC_000008.10:g.145007459A>T	VUS	1 lab	42c9959235
19:48183211 BICRA T>C	19	48183211	48183211	T	C	BICRA	c.784T>C	NM_015711.3	NP_056526.3:p.(Tyr262His)	NC_000019.9:g.48183211T>C	VUS	1 lab	42cd76fa44
2:26700700 OTOF G>A	2	26700700	26700700	G	A	OTOF	c.62C>T	NM_194322.3	NP_919303.1:p.(Pro21Leu)	NC_000002.11:g.26700700G>A	(Likely) benign	1 lab	42d5142f6e
17:61498522 TANC2 C>T	17	61498522	61498522	C	T	TANC2	c.5179C>T	NM_025185.4	NP_079461.2:p.(Pro1727Ser)	NC_000017.10:g.61498522C>T	VUS	1 lab	42d885b991
11:35327683 SLC1A2 G>T	11	35327683	35327683	G	T	SLC1A2	c.668C>A	NM_004171.4	NP_004162.2:p.(Pro223Gln)	NC_000011.9:g.35327683G>T	(Likely) benign	1 lab	42dc6000f0
11:62299227 AHNAK G>C	11	62299227	62299227	G	C	AHNAK	c.2662C>G	NM_001620.3	NP_001611.1:p.(Pro888Ala)	NC_000011.9:g.62299227G>C	VUS	1 lab	42dcb8b3d7
1:12065885 MFN2 A>G	1	12065885	12065885	A	G	MFN2	c.1613A>G	NM_014874.4	NP_055689.1:p.(Gln538Arg)	NC_000001.10:g.12065885A>G	VUS	1 lab	42de2b52cd
18:10742489 PIEZO2 T>C	18	10742489	10742489	T	C	PIEZO2	c.4561+3A>G	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10742489T>C	(Likely) benign	1 lab	42e33e016f
1:114438951 AP4B1 A>G	1	114438951	114438951	A	G	AP4B1	c.1439T>C	NM_006594.5	NP_006585.2:p.(Leu480Ser)	NC_000001.10:g.114438951A>G	(Likely) benign	1 lab	42e74f947a
22:29120965 CHEK2 CT>C	22	29120965	29120968	CT	C	CHEK2	c.591del	NM_007194.4	NP_009125.1:p.(Val198PhefsTer7)	NC_000022.10:g.29120968del	(Likely) pathogenic	1 lab	42eb7736a8
1:43396292 SLC2A1 C>T	1	43396292	43396292	C	T	SLC2A1	c.516+5G>A	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43396292C>T	VUS	1 lab	42edb30b0f
2:179579118 TTN G>T	2	179579118	179579118	G	T	TTN	c.26383C>A	NM_001267550.2	NP_001254479.2:p.(Gln8795Lys)	NC_000002.11:g.179579118G>T	VUS	1 lab	42f0ca0ec9
20:56140152 PCK1 G>A	20	56140152	56140152	G	A	PCK1	c.1375G>A	NM_002591.4	NP_002582.3:p.(Ala459Thr)	NC_000020.10:g.56140152G>A	VUS	1 lab	42f3deaa38
15:27188402 GABRA5 C>T	15	27188402	27188402	C	T	GABRA5	c.918C>T	NM_000810.4	NP_000801.1:p.(Ser306=)	NC_000015.9:g.27188402C>T	(Likely) benign	1 lab	42f7190078
1:201334417 TNNT2 T>C	1	201334417	201334417	T	C	TNNT2	c.283A>G	NM_001276347.2	NP_001263276.1:p.(Met95Val)	NC_000001.10:g.201334417T>C	VUS	1 lab	42fe676d40
2:179605314 TTN AC>A	2	179605314	179605315	AC	A	TTN	c.12645del	NM_001267550.2	NP_001254479.2:p.(Gln4215HisfsTer4)	NC_000002.11:g.179605315del	(Likely) pathogenic	1 lab	4300705282
15:48766537 FBN1 G>C	15	48766537	48766537	G	C	FBN1	c.4125C>G	NM_000138.5	NP_000129.3:p.(Ser1375Arg)	NC_000015.9:g.48766537G>C	VUS	1 lab	430ebb783a
17:39768451 KRT16 A>G	17	39768451	39768451	A	G	KRT16	c.490T>C	NM_005557.4	NP_005548.2:p.(Tyr164His)	NC_000017.10:g.39768451A>G	VUS	1 lab	431294b0e3
13:32913842 BRCA2 A>C	13	32913842	32913842	A	C	BRCA2	c.5350A>C	NM_000059.4	NP_000050.3:p.(Asn1784His)	NC_000013.10:g.32913842A>C	VUS	1 lab	431370fbba
X:79943569 BRWD3 T>C	X	79943569	79943569	T	C	BRWD3	c.3863A>G	NM_153252.5	NP_694984.5:p.(Lys1288Arg)	NC_000023.10:g.79943569T>C	(Likely) benign	1 lab	43140ee260
10:73585649 PSAP C>T	10	73585649	73585649	C	T	PSAP	c.722G>A	NM_002778.4	NP_002769.1:p.(Cys241Tyr)	NC_000010.10:g.73585649C>T	VUS	1 lab	4317240acd
16:88792738 PIEZO1 G>C	16	88792738	88792738	G	C	PIEZO1	c.3922C>G	NM_001142864.4	NP_001136336.2:p.(Leu1308Val)	NC_000016.9:g.88792738G>C	VUS	1 lab	431983284d
1:1455698 ATAD3A C>T	1	1455698	1455698	C	T	ATAD3A	c.680+12C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1455698C>T	(Likely) benign	1 lab	431f23d89f
5:179201432 MAML1 C>A	5	179201432	179201432	C	A	MAML1	c.2605C>A	NM_014757.5	NP_055572.1:p.(Gln869Lys)	NC_000005.9:g.179201432C>A	VUS	1 lab	431f904395
1:9304978 H6PD CCCCAGGCA>C	1	9304978	9304994	CCCCAGGCA	C	H6PD	c.-7_1del	NM_004285.4	NP_004276.2:p.(Met1?)	NC_000001.10:g.9304987_9304994del	(Likely) benign	1 lab	43206f7274
18:19426988 MIB1 C>T	18	19426988	19426988	C	T	MIB1	c.2295C>T	NM_020774.4	NP_065825.1:p.(Asp765=)	NC_000018.9:g.19426988C>T	(Likely) benign	1 lab	432425e965
17:2583512 PAFAH1B1 A>G	17	2583512	2583512	A	G	PAFAH1B1	c.1057A>G	NM_000430.4	NP_000421.1:p.(Ile353Val)	NC_000017.10:g.2583512A>G	VUS	1 lab	43250f90db
3:10105570 FANCD2 A>G	3	10105570	10105570	A	G	FANCD2	c.1922A>G	NM_033084.6	NP_149075.2:p.(His641Arg)	NC_000003.11:g.10105570A>G	(Likely) benign	1 lab	4326d2f58a
19:11218174 LDLR A>AC	19	11218174	11218177	A	AC	LDLR	c.927dup	NM_000527.5	NP_000518.1:p.(Ile310HisfsTer22)	NC_000019.9:g.11218177dup	(Likely) pathogenic	1 lab	43297b792a
13:35751209 NBEA A>G	13	35751209	35751209	A	G	NBEA	c.4631A>G	NM_015678.5	NP_056493.3:p.(Asn1544Ser)	NC_000013.10:g.35751209A>G	VUS	1 lab	432c2c5425
19:18278055 PIK3R2 C>A	19	18278055	18278055	C	A	PIK3R2	c.1675C>A	NM_005027.4	NP_005018.2:p.(Arg559Ser)	NC_000019.9:g.18278055C>A	VUS	1 lab	4332b95467
9:130420729 STXBP1 AGGT>A	9	130420729	130420732	AGGT	A	STXBP1	c.246_246+2del	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130420730_130420732del	(Likely) pathogenic	1 lab	43331560f6
17:39915070 JUP G>A	17	39915070	39915070	G	A	JUP	c.1550C>T	NM_001352773.2	NP_001339702.1:p.(Pro517Leu)	NC_000017.10:g.39915070G>A	VUS	1 lab	43352a5728
2:175436940 WIPF1 G>A	2	175436940	175436940	G	A	WIPF1	c.593C>T	NM_001077269.1	NP_001070737.1:p.(Pro198Leu)	NC_000002.11:g.175436940G>A	(Likely) benign	1 lab	4335d17d97
4:367280 ZNF141 T>A	4	367280	367280	T	A	ZNF141	c.1054T>A	NM_003441.4	NP_003432.1:p.(Ser352Thr)	NC_000004.11:g.367280T>A	(Likely) benign	1 lab	433ea4ad74
21:33044256 SCAF4 GGCTGCTGCT>G	21	33044256	33044278	GGCTGCTGCT	G	SCAF4	c.2891_2899del	NM_020706.2	NP_065757.1:p.(Gln964_Gln966del)	NC_000021.8:g.33044270_33044278del	VUS	1 lab	433ff1c1b0
21:33064165 SCAF4 G>A	21	33064165	33064165	G	A	SCAF4	c.1693C>T	NM_020706.2	NP_065757.1:p.(Arg565Ter)	NC_000021.8:g.33064165G>A	(Likely) pathogenic	1 lab	43423e3fff
3:113517285 ATP6V1A G>T	3	113517285	113517285	G	T	ATP6V1A	c.1486G>T	NM_001690.4	NP_001681.2:p.(Val496Leu)	NC_000003.11:g.113517285G>T	VUS	1 lab	4344806efc
3:12660155 RAF1 A>C	3	12660155	12660155	A	C	RAF1	c.66T>G	NM_002880.4	NP_002871.1:p.(Phe22Leu)	NC_000003.11:g.12660155A>C	(Likely) benign	1 lab	4350a44039
3:57882598 SLMAP A>G	3	57882598	57882598	A	G	SLMAP	c.1340-2A>G	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57882598A>G	VUS	1 lab	4350fb7c8d
14:23882996 MYH7 C>T	14	23882996	23882996	C	T	MYH7	c.5762G>A	NM_000257.4	NP_000248.2:p.(Arg1921Gln)	NC_000014.8:g.23882996C>T	VUS	1 lab	4351b2aed1
1:237788953 RYR2 T>C	1	237788953	237788953	T	C	RYR2	c.6023-8T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237788953T>C	(Likely) benign	1 lab	435634e41c
8:120803637 TAF2 C>G	8	120803637	120803637	C	G	TAF2	c.1340G>C	NM_003184.4	NP_003175.2:p.(Ser447Thr)	NC_000008.10:g.120803637C>G	(Likely) benign	1 lab	435b4a6b96
21:38884713 DYRK1A C>G	21	38884713	38884713	C	G	DYRK1A	c.2171C>G	NM_001396.5	NP_001387.2:p.(Ala724Gly)	NC_000021.8:g.38884713C>G	(Likely) benign	1 lab	436213e630
12:6833824 COPS7A T>G	12	6833824	6833824	T	G	COPS7A	c.2T>G	NM_001164093.2	NP_001157565.1:p.(Met1?)	NC_000012.11:g.6833824T>G	VUS	1 lab	4365274266
11:533879 HRAS G>A	11	533879	533879	G	A	HRAS	c.177C>T	NM_005343.4	NP_005334.1:p.(Ala59=)	NC_000011.9:g.533879G>A	(Likely) benign	1 lab	4370a910cd
12:110734483 ATP2A2 A>G	12	110734483	110734483	A	G	ATP2A2	c.404A>G	NM_001681.4	NP_001672.1:p.(Lys135Arg)	NC_000012.11:g.110734483A>G	VUS	1 lab	437121c653
1:3348666 PRDM16 G>A	1	3348666	3348666	G	A	PRDM16	c.3658G>A	NM_022114.4	NP_071397.3:p.(Ala1220Thr)	NC_000001.10:g.3348666G>A	(Likely) benign	1 lab	4371f21944
10:73587879 PSAP C>T	10	73587879	73587879	C	T	PSAP	c.612G>A	NM_002778.4	NP_002769.1:p.(Met204Ile)	NC_000010.10:g.73587879C>T	VUS	1 lab	4373c5a6dd
1:74705684 TNNI3K G>C	1	74705684	74705684	G	C	TNNI3K	c.149+3790G>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74705684G>C	(Likely) benign	1 lab	4374b78545
5:66084597 MAST4 C>G	5	66084597	66084597	C	G	MAST4	c.617C>G	NM_001164664.2	NP_001158136.1:p.(Ser206Trp)	NC_000005.9:g.66084597C>G	VUS	1 lab	437587fef6
5:113740415 KCNN2 T>C	5	113740415	113740415	T	C	KCNN2	c.1499T>C	NM_021614.4	NP_067627.3:p.(Ile500Thr)	NC_000005.9:g.113740415T>C	(Likely) pathogenic	1 lab	437598d622
4:103611845 MANBA C>T	4	103611845	103611845	C	T	MANBA	c.757G>A	NM_005908.4	NP_005899.3:p.(Val253Ile)	NC_000004.11:g.103611845C>T	(Likely) benign	1 lab	4377b391d5
X:107454903 COL4A6 T>G	X	107454903	107454903	T	G	COL4A6	c.512A>C	NM_001847.4	NP_001838.2:p.(Lys171Thr)	NC_000023.10:g.107454903T>G	VUS	1 lab	43781bd458
6:7187669 RREB1 A>T	6	7187669	7187669	A	T	RREB1	c.174A>T	NM_001003699.4	NP_001003699.1:p.(Glu58Asp)	NC_000006.11:g.7187669A>T	VUS	1 lab	4381f46d05
18:21529989 LAMA3 A>T	18	21529989	21529989	A	T	LAMA3	c.9512-4A>T	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21529989A>T	(Likely) benign	1 lab	4383c64b30
17:17119716 FLCN G>A	17	17119716	17119716	G	A	FLCN	c.1278C>T	NM_144997.7	NP_659434.2:p.(Ile426=)	NC_000017.10:g.17119716G>A	(Likely) benign	1 lab	438a452e81
6:3113401 RIPK1 T>C	6	3113401	3113401	T	C	RIPK1	c.1844T>C	NM_003804.6	NP_003795.2:p.(Ile615Thr)	NC_000006.11:g.3113401T>C	(Likely) pathogenic	1 lab	438de13701
2:167133480 SCN9A T>A	2	167133480	167133480	T	A	SCN9A	c.2841+13A>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133480T>A	(Likely) benign	1 lab	43a25c8af5
11:4566684 OR52M1 G>A	11	4566684	4566684	G	A	OR52M1	c.264G>A	NM_001004137.1	NP_001004137.1:p.(Trp88Ter)	NC_000011.9:g.4566684G>A	VUS	1 lab	43912676c3
22:40807925 MRTFA A>C	22	40807925	40807925	A	C	MRTFA	c.2579-14T>G	NM_020831.6	NP_065882.2:p.?	NC_000022.10:g.40807925A>C	VUS	1 lab	4391bc5539
9:109701313 ZNF462 G>A	9	109701313	109701313	G	A	ZNF462	c.6352G>A	NM_021224.6	NP_067047.4:p.(Val2118Ile)	NC_000009.11:g.109701313G>A	(Likely) benign	1 lab	4395838c21
1:12359319 VPS13D G>A	1	12359319	12359319	G	A	VPS13D	c.6094G>A	NM_015378.4	NP_056193.2:p.(Val2032Ile)	NC_000001.10:g.12359319G>A	VUS	1 lab	439b11af6a
6:31933780 SKIC2 G>A	6	31933780	31933780	G	A	SKIC2	c.2192G>A	NM_006929.5	NP_008860.4:p.(Arg731His)	NC_000006.11:g.31933780G>A	VUS	1 lab	439d7f617e
21:34923938 SON A>G	21	34923938	34923938	A	G	SON	c.2401A>G	NM_032195.3	NP_115571.3:p.(Met801Val)	NC_000021.8:g.34923938A>G	VUS	1 lab	43a04663ad
6:158541509 SERAC1 GCA>G	6	158541509	158541513	GCA	G	SERAC1	c.1112_1113del	NM_032861.4	NP_116250.3:p.(Val371AlafsTer22)	NC_000006.11:g.158541512_158541513del	(Likely) pathogenic	1 lab	43a6607c67
8:77768425 ZFHX4 C>T	8	77768425	77768425	C	T	ZFHX4	c.9268C>T	NM_024721.5	NP_078997.4:p.(His3090Tyr)	NC_000008.10:g.77768425C>T	VUS	1 lab	43aa3d0b1f
7:128483969 FLNC T>C	7	128483969	128483969	T	C	FLNC	c.2929+2T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483969T>C	(Likely) pathogenic	1 lab	43b195d6e0
12:31240866 DDX11 A>T	12	31240866	31240866	A	T	DDX11	c.639-6A>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31240866A>T	(Likely) benign	1 lab	43b20500ca
20:42232903 IFT52 G>A	20	42232903	42232903	G	A	IFT52	c.413+5G>A	NM_001303458.3	NP_001290387.1:p.?	NC_000020.10:g.42232903G>A	(Likely) benign	1 lab	43bc344031
16:2112495 TSC2 C>G	16	2112495	2112495	C	G	TSC2	c.1258-3C>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112495C>G	VUS	1 lab	43bc3b6d06
11:108158414 ATM CAG>C	11	108158414	108158418	CAG	C	ATM	c.4084_4085del	NM_000051.4	NP_000042.3:p.(Ser1362HisfsTer2)	NC_000011.9:g.108158417_108158418del	(Likely) pathogenic	1 lab	43bfe0c6b1
X:153657133 ATP6AP1 TGGC>T	X	153657133	153657154	TGGC	T	ATP6AP1	c.114_116del	NM_001183.6	NP_001174.2:p.(Ala41del)	NC_000023.10:g.153657152_153657154del	(Likely) benign	1 lab	43cb4b6052
20:6078197 FERMT1 C>A	20	6078197	6078197	C	A	FERMT1	c.931G>T	NM_017671.5	NP_060141.3:p.(Glu311Ter)	NC_000020.10:g.6078197C>A	(Likely) pathogenic	1 lab	43cc84dc0f
1:43906214 SZT2 C>G	1	43906214	43906214	C	G	SZT2	c.7130C>G	NM_015284.4	NP_056099.3:p.(Thr2377Ser)	NC_000001.10:g.43906214C>G	VUS	1 lab	43d13201fd
11:6637552 TPP1 C>T	11	6637552	6637552	C	T	TPP1	c.1069G>A	NM_000391.4	NP_000382.3:p.(Ala357Thr)	NC_000011.9:g.6637552C>T	VUS	1 lab	43d2ea177e
2:166854610 SCN1A A>T	2	166854610	166854610	A	T	SCN1A	c.4414T>A	NM_001165963.4	NP_001159435.1:p.(Phe1472Ile)	NC_000002.11:g.166854610A>T	(Likely) pathogenic	1 lab	43d61fbe10
1:16259216 SPEN G>A	1	16259216	16259216	G	A	SPEN	c.6481G>A	NM_015001.3	NP_055816.2:p.(Glu2161Lys)	NC_000001.10:g.16259216G>A	VUS	1 lab	43db030867
1:1460648 ATAD3A G>T	1	1460648	1460648	G	T	ATAD3A	c.1243G>T	NM_001170535.3	NP_001164006.1:p.(Ala415Ser)	NC_000001.10:g.1460648G>T	VUS	1 lab	43e3485390
12:56398445 SUOX T>TGTCCA	12	56398445	56398453	T	TGTCCA	SUOX	c.1276_1280dup	NM_000456.3	NP_000447.2:p.(Ala428SerfsTer13)	NC_000012.11:g.56398449_56398453dup	(Likely) pathogenic	1 lab	43e5e2bbd8
2:179620980 TTN CCT>C	2	179620980	179620987	CCT	C	TTN	c.11221_11222del	NM_001267550.2	NP_001254479.2:p.(Arg3741AspfsTer13)	NC_000002.11:g.179620986_179620987del	(Likely) pathogenic	1 lab	43ebc98802
16:89574843 SPG7 G>GCTGCTC	16	89574843	89574850	G	GCTGCTC	SPG7	c.20_25dup	NM_003119.4	NP_003110.1:p.(Leu7_Leu8dup)	NC_000016.9:g.89574845_89574850dup	VUS	1 lab	43f1ef1339
12:52912895 KRT5 A>G	12	52912895	52912895	A	G	KRT5	c.605T>C	NM_000424.4	NP_000415.2:p.(Leu202Pro)	NC_000012.11:g.52912895A>G	(Likely) pathogenic	1 lab	43f7310f47
2:228563530 SLC19A3 T>C	2	228563530	228563530	T	C	SLC19A3	c.901A>G	NM_025243.4	NP_079519.1:p.(Ile301Val)	NC_000002.11:g.228563530T>C	(Likely) benign	1 lab	43f7be0e33
7:107545471 DLD G>C	7	107545471	107545471	G	C	DLD	c.406G>C	NM_000108.5	NP_000099.2:p.(Gly136Arg)	NC_000007.13:g.107545471G>C	VUS	1 lab	43f83d229f
2:198570451 MARS2 C>T	2	198570451	198570451	C	T	MARS2	c.322C>T	NM_138395.4	NP_612404.1:p.(Leu108=)	NC_000002.11:g.198570451C>T	(Likely) benign	1 lab	43fb7f6b23
16:29821420 MAZ G>GGCGGCGGCAGCGGCA	16	29821420	29821452	G	GGCGGCGGCAGCGGCA	MAZ	c.1320_1334dup	NM_002383.4	NP_002374.2:p.(Ala444_Ala448dup)	NC_000016.9:g.29821438_29821452dup	(Likely) benign	1 lab	4400f829d6
9:4576681 SLC1A1 G>A	9	4576681	4576681	G	A	SLC1A1	c.1111G>A	NM_004170.6	NP_004161.4:p.(Ala371Thr)	NC_000009.11:g.4576681G>A	VUS	1 lab	4404aedbe0
2:198265526 SF3B1 A>G	2	198265526	198265526	A	G	SF3B1	c.2631T>C	NM_012433.4	NP_036565.2:p.(Gly877=)	NC_000002.11:g.198265526A>G	(Likely) benign	1 lab	4405eee3ab
6:29911225 HLA-A A>G	6	29911225	29911225	A	G	HLA-A	c.524A>G	NM_002116.8	NP_002107.3:p.(His175Arg)	NC_000006.11:g.29911225A>G	(Likely) benign	1 lab	44061a1aa2
19:50823906 KCNC3 C>T	19	50823906	50823906	C	T	KCNC3	c.2114G>A	NM_004977.3	NP_004968.2:p.(Arg705Gln)	NC_000019.9:g.50823906C>T	VUS	1 lab	4407bf9ef5
18:19383893 MIB1 C>CAGCT	18	19383893	19383898	C	CAGCT	MIB1	c.1399_1402dup	NM_020774.4	NP_065825.1:p.(Met468SerfsTer6)	NC_000018.9:g.19383895_19383898dup	(Likely) pathogenic	1 lab	440bac8f81
3:12954923 IQSEC1 C>T	3	12954923	12954923	C	T	IQSEC1	c.2358+5G>A	NM_014869.8	NP_055684.3:p.?	NC_000003.11:g.12954923C>T	VUS	1 lab	440ca2181f
11:4104745 STIM1 C>G	11	4104745	4104745	C	G	STIM1	c.1474+17C>G	NM_001277961.3	NP_001264890.1:p.?	NC_000011.9:g.4104745C>G	(Likely) benign	1 lab	440d000666
18:31323661 ASXL3 A>T	18	31323661	31323661	A	T	ASXL3	c.3849A>T	NM_030632.3	NP_085135.1:p.(Lys1283Asn)	NC_000018.9:g.31323661A>T	VUS	1 lab	440d5ff90f
3:112732861 RMP64 G>A	3	112732861	112732861	G	A	RMP64	c.280C>T	NM_015412.4	NP_056227.2:p.(Arg94Cys)	NC_000003.11:g.112732861G>A	(Likely) pathogenic	1 lab	440d6e7839
19:3119207 GNA11 C>G	19	3119207	3119207	C	G	GNA11	c.739C>G	NM_002067.5	NP_002058.2:p.(Arg247Gly)	NC_000019.9:g.3119207C>G	VUS	1 lab	440ef7c6c3
6:31637612 CSNK2B G>C	6	31637612	31637612	G	C	CSNK2B	c.558-1G>C	NM_001320.7	NP_001311.3:p.?	NC_000006.11:g.31637612G>C	(Likely) pathogenic	1 lab	4411af29d1
22:51154185 SHANK3 T>C	22	51154185	51154185	T	C	SHANK3	c.2575+4T>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51154185T>C	(Likely) benign	1 lab	4413e9a443
6:7581423 DSP AG>A	6	7581423	7581424	AG	A	DSP	c.5001del	NM_004415.4	NP_004406.2:p.(Gln1667HisfsTer14)	NC_000006.11:g.7581424del	(Likely) pathogenic	1 lab	4418c9807d
15:43552663 TGM5 G>T	15	43552663	43552663	G	T	TGM5	c.125C>A	NM_201631.4	NP_963925.2:p.(Thr42Asn)	NC_000015.9:g.43552663G>T	VUS	1 lab	442252aa38
3:48613833 COL7A1 C>T	3	48613833	48613833	C	T	COL7A1	c.5772G>A	NM_000094.4	NP_000085.1:p.(Gln1924=)	NC_000003.11:g.48613833C>T	VUS	1 lab	442b6d742f
16:2164181 PKD1 C>A	16	2164181	2164181	C	A	PKD1	c.2843G>T	NM_001009944.3	NP_001009944.3:p.(Gly948Val)	NC_000016.9:g.2164181C>A	VUS	1 lab	442f3cb24a
22:41572942 EP300 G>A	22	41572942	41572942	G	A	EP300	c.5227G>A	NM_001429.4	NP_001420.2:p.(Val1743Ile)	NC_000022.10:g.41572942G>A	VUS	1 lab	442f630593
5:176829405 F12 G>A	5	176829405	176829405	G	A	F12	c.1736C>T	NM_000505.4	NP_000496.2:p.(Thr579Ile)	NC_000005.9:g.176829405G>A	VUS	1 lab	4433c19234
18:29056115 DSG3 G>C	18	29056115	29056115	G	C	DSG3	c.2892G>C	NM_001944.3	NP_001935.2:p.(Arg964Ser)	NC_000018.9:g.29056115G>C	VUS	1 lab	44349a664c
12:49444886 KMT2D CA>C	12	49444886	49444887	CA	C	KMT2D	c.2579del	NM_003482.4	NP_003473.3:p.(Leu860ArgfsTer70)	NC_000012.11:g.49444887del	(Likely) pathogenic	1 lab	4439abb939
2:84771562 DNAH6 C>T	2	84771562	84771562	C	T	DNAH6	c.868C>T	NM_001370.2	NP_001361.1:p.(Arg290Cys)	NC_000002.11:g.84771562C>T	VUS	1 lab	443a7daff7
11:75590965 UVRAG C>T	11	75590965	75590965	C	T	UVRAG	c.313C>T	NM_003369.4	NP_003360.2:p.(Arg105Cys)	NC_000011.9:g.75590965C>T	VUS	1 lab	443b6a1ad5
20:2841175 VPS16 C>CCACCGCTT	20	2841175	2841187	C	CCACCGCTT	VPS16	c.455_462dup	NM_022575.4	NP_072097.2:p.(Leu155AlafsTer59)	NC_000020.10:g.2841180_2841187dup	(Likely) pathogenic	1 lab	443c34687d
2:179639770 TTN T>G	2	179639770	179639770	T	G	TTN	c.6668A>C	NM_001267550.2	NP_001254479.2:p.(His2223Pro)	NC_000002.11:g.179639770T>G	VUS	1 lab	443e420e21
17:7460608 TNFSF12 T>C	17	7460608	7460608	T	C	TNFSF12	c.691T>C	NM_003809.3	NP_003800.1:p.(Trp231Arg)	NC_000017.10:g.7460608T>C	VUS	1 lab	44428fb06f
16:2160571 PKD1 C>A	16	2160571	2160571	C	A	PKD1	c.4597G>T	NM_001009944.3	NP_001009944.3:p.(Val1533Leu)	NC_000016.9:g.2160571C>A	VUS	1 lab	4443d2f049
18:21511172 LAMA3 G>C	18	21511172	21511172	G	C	LAMA3	c.8576+7G>C	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21511172G>C	(Likely) benign	1 lab	4446827229
9:429719 DOCK8 T>C	9	429719	429719	T	C	DOCK8	c.4491T>C	NM_203447.4	NP_982272.2:p.(Phe1497=)	NC_000009.11:g.429719T>C	(Likely) benign	1 lab	444839ce95
22:36680526 MYH9 G>A	22	36680526	36680526	G	A	MYH9	c.5515C>T	NM_002473.6	NP_002464.1:p.(Arg1839Trp)	NC_000022.10:g.36680526G>A	VUS	1 lab	4449fafcd7
17:11738219 DNAH9 G>A	17	11738219	11738219	G	A	DNAH9	c.9507+4G>A	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11738219G>A	(Likely) benign	1 lab	444a77e039
19:6684665 C3 G>A	19	6684665	6684665	G	A	C3	c.4030-4C>T	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6684665G>A	(Likely) benign	1 lab	444b0a1529
8:77763493 ZFHX4 G>A	8	77763493	77763493	G	A	ZFHX4	c.4336G>A	NM_024721.5	NP_078997.4:p.(Ala1446Thr)	NC_000008.10:g.77763493G>A	(Likely) benign	1 lab	445b4f2a56
21:35255965 ITSN1 A>G	21	35255965	35255965	A	G	ITSN1	c.4666A>G	NM_003024.3	NP_003015.2:p.(Ile1556Val)	NC_000021.8:g.35255965A>G	VUS	1 lab	4462192c47
11:119216231 MFRP A>G	11	119216231	119216231	A	G	MFRP	c.540T>C	NM_031433.4	NP_113621.1:p.(His180=)	NC_000011.9:g.119216231A>G	(Likely) benign	1 lab	3ceaf7f055
8:17917219 ASAH1 A>T	8	17917219	17917219	A	T	ASAH1	c.786-7T>A	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17917219A>T	(Likely) benign	1 lab	4467c43f7b
2:179428837 TTN C>T	2	179428837	179428837	C	T	TTN	c.82022G>A	NM_001267550.2	NP_001254479.2:p.(Arg27341Gln)	NC_000002.11:g.179428837C>T	VUS	1 lab	4468b9f0b2
6:35803124 SRPK1 G>A	6	35803124	35803124	G	A	SRPK1	c.1925C>T	NM_003137.5	NP_003128.3:p.(Ala642Val)	NC_000006.11:g.35803124G>A	VUS	1 lab	4469e603c5
2:49190291 FSHR G>A	2	49190291	49190291	G	A	FSHR	c.1669C>T	NM_000145.4	NP_000136.2:p.(Arg557Trp)	NC_000002.11:g.49190291G>A	VUS	1 lab	446cb11d24
4:178361529 AGA C>T	4	178361529	178361529	C	T	AGA	c.179G>A	NM_000027.4	NP_000018.2:p.(Gly60Asp)	NC_000004.11:g.178361529C>T	(Likely) pathogenic	1 lab	4472de2c2a
X:147800715 AFF2 A>G	X	147800715	147800715	A	G	AFF2	c.11A>G	NM_001170628.1	NP_001164099.1:p.(Lys4Arg)	NC_000023.10:g.147800715A>G	VUS	1 lab	4476eb1149
11:63986992 FERMT3 C>T	11	63986992	63986992	C	T	FERMT3	c.895-4C>T	NM_178443.3	NP_848537.1:p.?	NC_000011.9:g.63986992C>T	(Likely) benign	1 lab	447cf7fed7
14:74428445 COQ6 G>A	14	74428445	74428445	G	A	COQ6	c.1141G>A	NM_182480.3	NP_872286.2:p.(Val381Met)	NC_000014.8:g.74428445G>A	(Likely) benign	1 lab	447efa289c
7:151917611 KMT2C G>A	7	151917611	151917611	G	A	KMT2C	c.3709C>T	NM_170606.3	NP_733751.2:p.(Arg1237Ter)	NC_000007.13:g.151917611G>A	(Likely) pathogenic	1 lab	447f1cab4e
2:73828443 ALMS1 G>C	2	73828443	73828443	G	C	ALMS1	c.11997G>C	NM_015120.4	NP_055935.4:p.(Arg3999Ser)	NC_000002.11:g.73828443G>C	VUS	1 lab	4481841f10
X:12838934 PRPS2 A>G	X	12838934	12838934	A	G	PRPS2	c.873+12A>G	NM_001039091.3	NP_001034180.1:p.?	NC_000023.10:g.12838934A>G	(Likely) benign	1 lab	4486e6ac42
7:31735178 PPP1R17 C>CA	7	31735178	31735186	C	CA	PPP1R17	c.186dup	NM_006658.5	NP_006649.2:p.(Pro63ThrfsTer25)	NC_000007.13:g.31735186dup	VUS	1 lab	4488aff561
17:10542989 MYH3 G>A	17	10542989	10542989	G	A	MYH3	c.2813C>T	NM_002470.4	NP_002461.2:p.(Thr938Met)	NC_000017.10:g.10542989G>A	VUS	1 lab	448a17347e
11:74168525 KCNE3 AT>A	11	74168525	74168527	AT	A	KCNE3	c.83del	NM_005472.5	NP_005463.1:p.(Asn28IlefsTer43)	NC_000011.9:g.74168527del	VUS	1 lab	448a17a114
10:78799379 KCNMA1 C>T	10	78799379	78799379	C	T	KCNMA1	c.1766G>A	NM_002247.4	NP_002238.2:p.(Trp589Ter)	NC_000010.10:g.78799379C>T	(Likely) pathogenic	1 lab	448ae0030e
17:7415569 POLR2A C>T	17	7415569	7415569	C	T	POLR2A	c.4398C>T	NM_000937.5	NP_000928.1:p.(Ala1466=)	NC_000017.10:g.7415569C>T	(Likely) benign	1 lab	44939f56b9
15:57953730 MYZAP A>T	15	57953730	57953730	A	T	MYZAP	c.1202A>T	NM_001018100.5	NP_001018110.1:p.(Glu401Val)	NC_000015.9:g.57953730A>T	VUS	1 lab	4494a9896e
11:73686552 UCP2 G>A	11	73686552	73686552	G	A	UCP2	c.799C>T	NM_003355.3	NP_003346.2:p.(Arg267Ter)	NC_000011.9:g.73686552G>A	VUS	1 lab	44958e3735
1:220088800 SLC30A10 C>T	1	220088800	220088800	C	T	SLC30A10	c.1449G>A	NM_018713.3	NP_061183.2:p.(Thr483=)	NC_000001.10:g.220088800C>T	(Likely) benign	1 lab	449c630bb9
12:6711131 CHD4 A>AATC	12	6711131	6711146	A	AATC	CHD4	c.430_432dup	NM_001273.5	NP_001264.2:p.(Asp144dup)	NC_000012.11:g.6711144_6711146dup	VUS	1 lab	44a17a98ea
5:138643408 MATR3 C>T	5	138643408	138643408	C	T	MATR3	c.304C>T	NM_199189.3	NP_954659.1:p.(Arg102Cys)	NC_000005.9:g.138643408C>T	VUS	1 lab	44a23f19b8
17:40689535 NAGLU G>A	17	40689535	40689535	G	A	NAGLU	c.503G>A	NM_000263.4	NP_000254.2:p.(Trp168Ter)	NC_000017.10:g.40689535G>A	(Likely) pathogenic	1 lab	44aab1646b
4:55981462 KDR C>T	4	55981462	55981462	C	T	KDR	c.475G>A	NM_002253.4	NP_002244.1:p.(Val159Met)	NC_000004.11:g.55981462C>T	VUS	1 lab	44ac07ac63
2:179403567 TTN C>G	2	179403567	179403567	C	G	TTN	c.98990-1G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179403567C>G	(Likely) pathogenic	1 lab	44ada4f1fa
8:22035248 BMP1 A>AG	8	22035248	22035253	A	AG	BMP1	c.731-112dup	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22035253dup	(Likely) benign	1 lab	44aea4cbf4
6:31084716 CDSN G>A	6	31084716	31084716	G	A	CDSN	c.676C>T	NM_001264.5	NP_001255.4:p.(Pro226Ser)	NC_000006.11:g.31084716G>A	VUS	1 lab	44b3e6b4ed
5:168175444 SLIT3 G>A	5	168175444	168175444	G	A	SLIT3	c.2138-5C>T	NM_003062.4	NP_003053.2:p.?	NC_000005.9:g.168175444G>A	(Likely) benign	1 lab	44b7f3f0c9
2:48686998 PPP1R21 C>T	2	48686998	48686998	C	T	PPP1R21	c.481C>T	NM_001135629.3	NP_001129101.1:p.(Leu161Phe)	NC_000002.11:g.48686998C>T	VUS	1 lab	44b8d9682d
5:37044542 NIPBL A>G	5	37044542	37044542	A	G	NIPBL	c.6202A>G	NM_133433.4	NP_597677.2:p.(Thr2068Ala)	NC_000005.9:g.37044542A>G	VUS	1 lab	44bb274998
15:32386007 MISSING Ref too long to show for this DUP>Alt too long to show for this DUP	15	32386007	32516431	Ref too long to show for this DUP	Alt too long to show for this DUP	MISSING				NC_000015.9:g.32386007_32516431delinsCGTATTACACTGTGGTCTGATTTTTTAAATCCCTTAAGCCTTATACGTTGCATTGTTCTTGAAATCAGTGTTCTCGAACTGTGCAGGATTAACTTTGGTAGTTAAAAATAGAATCAAAGAGTTCAGAATCACTCTGCTGGGGGAGTTCTAGAGGCAGAAGTTTTTCCAAAGACTGCAGTCTCTGCCTCAGTGGCTCTTTGGAGCAACATCTCCAATCTCAGGATCTTCGGGGTGCTGTGTTTTAAAGCATAATGCATTTCCTCTGTTTGTCAGGTTTAACGGTACCGTCAGAAATAAGCATATATCTGTAAACAGTTCGGCTGTGATTAAGGAGCTCCAGAATCCTAGAAATAGTGAAGTTCCTTAGCTTAACCCTTTGCCAAGGTGGCTAGCTGGTGGATGAGGCCAGGATCCAAGGCTTGAAGGAAGTCAGGTTGCACACACTTTTTGAAAAGATTCTCATCTGCACATTGATGCATCGCAGAATAACCATGAACCCACTGGGAATATTAAATGCTGACCTCTAGACACTTAATTCCTAAGCCTTAATTTTCAGTGGGAACCAAACCAACCAGGTTTCAAAGATGAGCCAATAAAATAACAGAATAAAAGGAACATTGCAGAGCTAAATGAATAAACTGAGAATCAAAACAAATTATTACACAGTTAAATTAGAAACAGAAAACCAACCAGTAATTATGTGCCACCCCTAAAAATAGGCAGCCGCAGATAGTGAGGAGATATTGCCAGTTCGGGCCAATTCTCTTAGCCTTTTCAGTACCTTTCTATCAAAGGAACTTTTTTCCGATAATTTAACAGTGGAGAATTTTGCTATATTTTAGGCACTTTTCTTTTTCTTTTTCTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGGTCTTGATCTCCTGGCCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCACCCAGCTCTTAGGCACTTTTCTTCCTGCTACCTATTCAGTCCTTGCAGCATGCTGCAGAGAGAGCAATTGATAGCCATTACCCTTGTTTTTACAAATAAGGGAACTGAGTCTCAGAAAAGTTCAGGGGATGGGACTACCCCTAGCCCACATGGCTAGTGAATAGCAGAGCCCAGAGCCTGTGATATCTATAGTTTTCACATTGTGTCCCCAACAAACAGACCCTGAGCAATCCCAAAATGTGAGCAGAGGTAGAGCCGAGCTCTGTATCCCGAGAGGGCCAGGCCCTGTGGTACGAGGACCAGGATGGTCCTAGAAATGCCAAGCTCCCCATCAGCAGCTCTCAGACATCCAGGCTTCAGGACTCCGTTGCTCTCCTTAACGTTATTGAAGATCCTCTAAGTTTTGTTTATGTGATTATATCTATCAATATTTAACACATTGGAGATAAAACTAAGAAGCATTTTAAAGTTCAGTAATTCACTTAATATAATAAGGCCATTCCATAAATAGCAAGATGTTAACATAAATAGCATTTTATGGAAAATAACCATATCTTCACCCAAGAAATCAGTGGGAAGGGTGGCGTTGCTTTTTATTGTTGCAAATCTCCTTAATGCCTCATGTAATAGAAGACATCTGGACTCTCTGACCAGCTTCTGCATTCAGTCTGCTGCTGGTCCCTATGTCCTGTAGCCTCCGCAAACCTCTATGGAAGACTCAAGGGAAAAGGGGGATGAAAGAGGGAAATAACGTCTAACCATTATGAAAAAAAGATTTGACTCACTGGTCCTCTGAAAGCATTTCAGAAACCCAGGGGTTCCAAGCCCATACTTTGAAAACTTCTGTCTTGTACAATTACCAAAGGGAATTATTTTCCGTGATCGTAATCACAGTGTTTGCTGTTACAACAAGGAGGACAGAATCACATCATGGTTCAAAACACAAGTGTTGAAAACTAAACTTTATGAAACTGAAATCCAACCCCCTAACCTCTTAAACAGGTTTCTGTACTTAGCTGTGTGACCTAGGGCCAGGAGCTTGTTTGTTTCATAATTGATATATTTATGCATTCCTCTTCTCCTTTGATTATAAAGGTAATACCTGCTCATAGCAAAGCATTCAAACAGAAAAGAGACATATAAAATTAAATTTGGGGGGTCTCCCATAATCTCCATTATTAAATGAGAAAAATAATAGTATTTATTTTGCTGGATTATTGTCGTGAAGCCAAAATGCGTTGTTTGCGTGTGCATGTGACATTTAGAAATGCAAACTCTGTTTAAGGGTTAGCTTTGTTATTTTCAGGTATCGTCAATACCTGATACCTGATATTTATTGATATCCTCTTGGTAAAGTACTTGTTCATCTTTTGCCCATTTTTCTATTGGATTGCCTGCCCTTTTCTGATTGATTTTTTGGAGTTTATTTCTTATTCTGGATATGAGTCTTTTGTCAGACCTACTATCTTGCTGACTCAGGGAAAACCTCAGTTTGTTATGCTGTAAAACTAAGAAAAAAATATGGTTGGTGTAAAGATTAAATTAGATAAAAGAAGTCACCGTTTATAAACTTTAGACTGCTACACAAATATGAATTTATATTATCCAGCTATTTTCTCTGCAAACAAGAATTTAGAAATGGTGGTGGTTAGGTCTATTGTTATGTTTTTGCTTTTTTTTTTTTCTCAGCATCTACACAAAGGAAAAAGAAATAATGTGATGGGAGCTCTGTAAAATCACATGGAATGATGTTACCCAGTAATTCACGAAAGAATAATTGCTGCAGAAATGCAAGATAGCACATTACGCATTACCACGACAGTTGTACTCTAAACCAGATAGACGATTATTCAGAGAGATTGATTTTAAAAAGCACGATCACTTAAATCAAAGCATGCTCTCAACTGAAGAGCTCAGATGGAAAAAGAATGAAGGGAGTTAGGCGCGTTGACTCGAGGGTGCCTTGCCACACCGGCCTTCTGGGATTCTGTGGCGGGCTGGGGACCCTGCCTCCTCCTGTCTTCATCCCAGAGGGAGAGGGGAGTGTAGATCTTGCAGGAGAGCCGTGTGTGTGAGTAGCCACGTGGTGACAGCCATTGGCACTGAGTGACATCGCACAGATTGCAGCATGCTCCTCCTCTTCCCACCTGCTGTAGCAGACAGGGCAGCTGTTTGCATCCCTGTTTCGGAGGAGAGAACATTGAAATGCACAGAAGCCAATTGCCTGCTGAGTCGGGAGCCCCCAGGGTCTTTTGCCTGTGTGGACTCTGCTCCTCCATGCCCTCCTGCCCAGTTGGGGAGGGCAGGAATAGCCAGGGGGGCAGCTTGAGGATCTGGAATTGCTGAAACCCACTTTCACAGTGCAATGGTCTGAATGTTTTTTTCCCCCACTAAATGCATATGTTGAGATCTGAATCCCCAAGGCGATGGTATTAGGAGGTGATTAGTCCATGACGGTGCAGTCATGATGGATGGTCCCCATATATACAAGGCCCCAGAGACCTCCCGCGCCCCTTCCACCATGCGAGGACACAGTGAAAGGTGGCTGCCTATGATCCGGGAAGCCAGCCCCCACCAGACACCAGGGTTCAACCATAGTGGCAGGTTAATCATGGACTTCCAGCCGCCAGAACTGTGAGAAACAAACTTCTATTTTTTATAAGCTACCCAGTGTATGATATTTTGTTATAAGCGTCCAAATGGAATTAAACATAGAGTCTGTGCTACTTAATTGCAGGCCCCTAGGTTCCTGTGGAATACTGTTCTTCGGGAGACTAAATGTGCATATTTATTCACAGGCCTCTGGGCCAGGGTTGGATGTTTCTGTCCCCTCTCTTGCAGGAACCCCCTTGTTTGACTCGGGTGGCCTCCAACTTGGGAGGGAGTGACTGCTGTAGGCAGCTCTGCCTGCTGATTCATGGTTTCAGGCTCAAGTGCTGCATGGCAGGCTGGGGGCTCTGGCAGCAGTGAAGGATATTTGGGTGAAAGAGAAGGAAACTTCCCTCCTGGGGTGAGGAACTGGATTTTGTCCCTAGGTAAATTCTGGGCAGTGGGAGTGGAGCCCCTGCATACCTGCCCTGAATGTCCTTCTGCCGGGGGCCAGAGGGCCATGTGGGAACTATAATTCCATCTGGGGACTTTCCACACTCAGAGGTGTGGCCACCATCCCCAGGTCTCCCAGTTCACCTGCAGCCTGTGTGGCCAAGTACAAATCCCGAGGCAAGGAAGTTGAGTGCAGAGCTGAAGTCCTCCCCCAGGTCCTCTGTGCAGAAGCCTGTCAGGAAGCAGGGGGCTGAGCTCAGCTTTAGTGCAGCAGGGTCGGGACGTGCTTGCCAAGGATCGAGGAAGGAAAAGGCTGTGGGGAAAGGGGAGGGGACAGATGGACTCTGAACCTGCTTTTGGAGCAGCCTCTGGGGAGGGAGGGCTTTTCTTGCCAGCCGGTCAAGGTCTTATAGGAGAAGACACGGCACCTGCAGACCTATTGCTGCCAGAGTCCCACAGAACCTCTTTGAGAAGGGGGAAAGGGGTCAGTCAAGAGCCATTTTGCAAATGAGGAGACTGAGTCCTGCAGCAACTGCCTCTCATCTGTGGTCACAGGCGTGGGGGCCTGGAGACAGTAATGCCTGGATAGAGCCTTGGAAAGCAGAGCTGGTGGTGGGAACCGAGGGATAAAGGCTCAGGACTGGGTGCACATGGTGGATGTGAGGGGATCCACATACTGTGGTATTGCAGGATCACAGGTGGTTAAAGCAGAGGCTCAGCCCCAGGACGCCACCCCTTGTCACTCTGGGTGAAGTCCATGTCCTTGTCTTCCTCCTTGTAGGGACCCTGTTTTCCCTCCCTCCGTGATCCTTGTTACCATTTGTTGTTATATGTTGTTATAAGTGTATCATTATTGTGTTGTAGAATCCTACCTCATCCCCCCCCACCAACACACACACACACACACACACACACACACACACACACTTTTTATTCTAGGAGCTCAGGAGCAATATTAATTTCCACTGCACACATCAGGCAAGCATAATGCTGGGGACAGGAGGTGTTCCATAAATGTTGCATGAACGAATGAATGAAAACTCGGCTGGACCATGGCTTGTAGCAATGGCTTGTGCACTTCACTCAAGATTCTTGACTTGATCCTTTGGGCAGTGCAGTTGGAGGAGGGTGATCTGATCATATGGATGGTCAGAAAGTCCGGTGTGAAGATGAGTAGAGGACAGCCTCTGTGTGTGTGCACCTGCGTGTGCATAGGGGCAGCAGGCTGCACAGTGGGAATGGGAAGGAGGTGAGGGACCTTGTCACTGCAAACAGAGAGCCAAGAGACTCAGACCGTGTGTGGCCCGGACAGGTGCCAAGAGGAGGGAGATTGTTCTGGGAGCATGGTTCCTCATGCCCTCCTCTCTCCCTCTTGAGTCTTTGTGGGGGGTTCCCCTAACGGGTATCCCTGCATGCTCAGGTGGTGGTGGCTGCTGCTTGTTGATTACAGTTTGAAAAGCTGCACTTGGTCCCAAGTTGCCACACACCACTGAAATTCAGTGTTCTCTAATGGGGTTTCTGTTAGAATGTTGGAAAGAAGAAAGCCTTTTAATTAGATTCGTAGTAATTGAGCTCCCAAACCACAGAAGCCTTTCTCTCAGCAGATGAAGACACAAATGCAATTAAAAGAAGGAAAGGCACCTAAATGGAACCCTTGCTAATTTTAAGTCCATTAAAAACAACAACTCCTTAATAAGTTGAGGCAACAGATACACGTTCTGAAGAGTTTTAACAGTGCTTCCCAATAATATTGGAGCTTGAACTGGAACTGGAGTGCTCCAGCCACTTAAATGGATAGCTCTGTTGGGGATCATTTGCTCAGTGCAGAGTACAGAGACATGTTAGCTCTACAGCTTTTCCCACCAAAAACTCCTGGCACATTTTATTAGGAAAATGGGATATATTTTTTCCTGTAACTGAATAAATGTTCAGCATCTTGTGGACATTGCCTCTGGCCTGGGGTCCCCTGAGACATCATCCCATGTCCCTCCCCAGGCAGCCCTCTCCTCTCTGTGGGATTTGCCCCACCTGGCCCATCTCACCCCAGAGGTGCCCAACATGTGAGCAACTGGGCTGGGGCACTGATGTCCCTGTCAACTGCTTACATGCTGAACGCATTTTCATTTTAATGAGAGGCAGCATTCGTTTTTCATTTGCATCCCTGCTCACTGACATGCCCCAGCAGATGCCACGTTCTTTCTGCCTTTGGGTCTTTTTTTTTTTGAAACTTCCCATCGGTGAACCAGGCCAAGTAGATTCTATTGCGGGAGCTTGAGGTTTCAGCTTCTGGGAACATCTTCACAGGGGCATTAATTAATATTTTCCCTGGAGAGGGTGTCAATTGCTAATTCACAGAGTCCTTTACGTTGGAGTTGATTATTTCATGCTGAATCACAACATTCTCAGTATGACTATTGTACAGAATTCACTCATTTGCCTCCTTTCACTGGGCTTGGTCAGCCGTACTAAAACGCAAGTTGCCTCCCATTTGGAAAGGCCAGTCTTGACGGGTCTCTTCTCTGTACGTCCTGTGCTGGAGCAAAGTCACAGCTGGTACACTAGCCAAGCTCCCTGATTAGTGCATAGGCTTAGCTGGAGGCAGAACTCAGGGAGGTGTTTTGGAAATGTAGGAAAATAAGCTCTGGAGTCAGAAAGATCCAAGTTTGAATGGCTGCTTCTAAAGTCACCTCATCTTTCTCACCTTTAGTTTATCACCTGGGTAGGCTTTACCTTCAGGTGTATTTCAAGAGCCCGATGTGCCTCCTAGAAGTTAGAGGTTGAGAGAAAAGCCCAGATCTGCAGGGACAAGGCAGAGTCATGGCCCTCATGGCACCACTCACACAGGGTGCAGCAGCTCCACACAGGGCCATGGCCCCTTTCCTGGGGGAGGGAGGCATAACATACTTGTATTTGTTTAAAAGCATATATATTTTGGAAACAAACCTGACTTTAAAAACTTGTATTTTCACCTACTTTTATGTTTTTTTTTAAGCATATGAATTATTTAAAAATACAAAGATAAATAGCTAAATCATTAGCAGGCATCATTTCTGGATGGTAAGGTTGCAGAGTTTTAATTTTCTTCTTTATACTTTTCCATCTTTTTTAAGTGCTGTATAATAAATGTGTCTTACTTTGGAATAAATAGAAAAGCTTAACTCTAGGGAAATGCTGCTTGCATATATTGGAAGTGCTTGGTGCATTCTAATTTCCACACACAACAACGCTCTCGACAGTCAGATCCCCATGTGAATAATTGTCTCATTCTTTCTTTTGTAAACCATATTATTTATGCTGCTGCTTTTTTTTTTTTTTTGAAGGATGAGAAGAACCAAGTTTTAACCACCAACATTTGGCTGCAAATGGTAAGTTAAGAGAATGACAATCTCTCCCATGGGCTGCAAGATCTTGCACCCAAGATTCTTGTTCTGATACCTGAGATGCTTGCTTCTGAGAGGTCCTGTTTAGGAAAAAAAACCAAAAAAACAAAAGGCCATGGCTGTCACACCAACTCCACACCTGCCAACAATGAATGCTGGCTGTATGACACTACAGTCTGCAGTGCTCAACACATGCACAAGATCAACACATAGGACAAGGTAATGTGGGGACACTTCAGAAGCACTTCAGGCAAGACAAGAAGATACAGGGCTGTGTGTAGATGTCCACAACCTGCACCACAGCCAGTCCCCAGGACTCAGAAGCTCCATCCCTGCCCTCTGTGGCCTCCGGAGCTGCATGTTTGAATCAGGTGGAGTGTTCCGAAACCAGAGGCCCTCGTACTTTGTGCTCTAGCAATGCTTATAAGAATCTTGAAATGCTACCTATCATTTGTAGATTTTTAACTTGACATCTGCAATACTAATCTAAATTTGATTAATTGCAAATGATGCCACTTAACATCCAATTGTAAATATTAACACTGAAAAATGAAACAGTCAGTCTCTATTTTAAATGGAATTCAAAATACCATAATAATTTGGTGCCCATCTCATTCAAACACCATATGAACAAGCCTTTTTTTAAACTGTCAGATATTTAACGTAGTCCCTTTTTTCTCTTTGCACATGCATTTCTATTCTAGTTTCTATACGGAATTTTATCCTAATGTAATATAATTTTATGTTTGAAAGTCTCTTTTTTGTTTGTTTGTTTGTTTGTTCGTTTGTTTGTTTGAGACAGAGCCTTGTTCTGTCATCCAGGCTGGAGTGCAGTGCAGTGGCGCAATCTTGGCTTACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAACAGCTGGAATTACAGGCAGGCACCACCACACCCGGCTAGTTTTTGTATTTTTTAGTAGAGACAGGGTTTCTTCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCAGGGCCGAAAGTCTTTTATTAATCGTGCCTTGGTTTTTTCAAATGTAAATATTTACACAAGAATTATTCCTTTACACCGTAAGTATTAAATTTTGTTTCTTTTGGATTGATTTAAGTTTGCTATTGTTATTGGTATTATAATTCATCAAGGTGACATAAATTAAAATTTTTAAGTAATTATAAAACATAAATTTTTATTGGCAATTTATATCTCTGCCCAAGATGAGTTTGTTTTAAATTAGTTCATGTATCCACAGATGACTTTTTATTACTTGAATGGAGAGAATGATAGTTTTCACTTCAATTCTGTTGCTGTTTTTTAACTAGGTGTAGTAACATGAGTAGTTGGACATGAAAGCCACTTTGTTAAAGCAATGTTACTCAATCTTTGAACTTCTTCTAGGTTATATGCCAAAAATAATGTAGTTTTTATCAAATGTATCAGCTGACAGCTTGATTAGTTTCTCCTTCAATTTTGTTGAAAACAAAGAAAAGAATTTAAACCCACCTGACCTTTGAAAGTATTTGCCACCCAATTTGTAAGGTAATTCACACAGACACAAACGCTGATACTTGAATTGACCATTTGTTTGGTTCTTGAGTCAGTGTCCCAAGATGGGAGTTGAGGTAAGATAAGAGAAATGTGCCCTTCTTTATAAAGTTGAATGGGAGAAGTGAAAATGGAGGCAAAGGATAGTCCCATGTGGTTCTTGGGCAGTTGAGTTATCCTGCGAATACACGTGGAGTTGAGGGATAGAAAATGGATCTGCATCCAGCCTGGCCAACATGGTGCAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGCCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGGAACAGAGCAAGACTCAATCTCAAGAAAAAAAAAAAAAAGAAAGAAAAAGAAAATGGATGTGCTTAAAGCCATTGCTAGGTCTCCAAGGTGCACCCATAGCTACATGTGAGACTCCTGCAGAACCTAACATTAGTCAGGTGAGAGCCCTTGAGATATTCCCTTGCAGGATTTAAAGCAGCATACTTCAGTGAGCATATCCCTTGCCACCTACTCTAGCTTCCCTCCTTTTGCCCAGGACACATGATCTGTGCTCTCCTGGAAGGCCCAGGCCTTCTTCCCATGGACAGACTCATCTCCTGGCCCCTGCTGAGAGCCTGGCATTAATGATTGTCCTCGCTGCCAGTAGCATCAAAATAGTGTCCGTGGGTCATTCTCACTCTTGTCTCTCCCACAGACTTTTCATTTGGATAAATGTTAAAGCCATGGATCCATTGGCTCAAACCAAAAACCTTGAAGTCACCCTTAACTCTTGTCTCGCACACCTCACCTCTGATACATCAACAAATCCTGGCAGCTTGACCTGCAAAACCGATCCAGGATCTAACTACTGGGCATCAACCATGATGCTTTCACCCTGGTCTACATGGGTGTCATCTCTCACCTCCATTATTAGGAGTCCCCATCCAGCCTTCCTGCTTCAGTGTTGCCTCTTCTGGTGGTGTCTTGTCCTCAACATAGCAGCCAGCATATACCTTCTTGGCACAGATCCCTCCAGGGGCTCCTGTCTCCCTGGACAGCATAGGAACTGAAGTCCTCGAAGTGGCCTTGGATTCAATTCCCTCCTTGCCTGGCTCCTTTTTCCTCTCCCCTCCCCTCTGTTCTTTGTTTCCTGGCTGCACTCACTGTCCACTTGTTGGGTGACACACACGTCACCCGAGCCCGTGCCCCCCCCTCAGGGCCTTTGCACTGGCTGCTCTCCCTGCCAGGAAGACTCGTCCCTAAGAACCACTTGATTTCCCCCTTACTTCTCACTGATCTCTTCCTAAAGGTCAACTCTTCATTGAGTCTTCTTTGAGCTCCGATGTACTGTCCCAAACCCTCCCCTCCACCTCCAGCCCACTCTGTTCTCTTTATCCTGTTTCATTTTTCTCCCAAAGGCTTCTCACCATGTAACCCGCTTTGTGTTCACTCGTCTATCTGTTCATTGGTTCTGAGTCTTCATCACCCTTAGAATGTGTGCACAGTGTGGGGGACAGGGCTCCAGGTGCATTCGGTCACTGCCGTACCCACAGCCCCTAGTTCACTGTCTCACCTGTAGCGGGCACCAAAGAACTTTTGCCGAATGAGAGAATGAAGCAAAAACTCAAGGTGAACCTTGAGGTGCTTGGGTAGCGTGACACAACATAAAGCCATCTCCTGAATGGCCGTGCAGCACTTTCGTACTGTGTGTATAAGGCCAGGCTCCGGAGAATGAGGCAAGTGCTTCCCTTTTTAATTAAAGTTGGACGTTTGCCATGCCCTCTAAGGAACAACGCTGCTGTTGACATTTTTCTTACAGAGAGAAATGCATGTTATGGAGAGGTCTCTCTCCCTGGTGCCTATCTTCCTTAGCCCTCAGTAAGTGACTGGTCTTCAGCAATGTATATGATTTGGCAATTTTATTTAAAGGATGGTGGTTTCCAAGAAAAATGTAACTGGATTATTACTTCCAGTATGGAATTCAGATGCTCCACAAATAAACATCCTTGCTTCAGAGGGTGTCACCAGAGACCTCTAAATTTATTTCAAGCACAGCTAATTTTAATTAAGGCTTACATTTGCAGAAGCATCTGCAGCTTCATTTGTTTGAAAACTCACCTTTTAACTCACCTCCTCTTGGAGCAACCTACTCTGTGGAAGGTATTAAACTGGGCCAGGTGAGGGGACCCAGAAATACATAACCCAGTTTCTACCTTTAAGCCATTTATGATCAGGCTGTGTAATTAACACGTTTAGAAGAAGGAGGCGGAGGAGAAGAAGAAGGAAAAGAGGAGGAGAAGGAGGAGGAGGAAAAAAGGAGGAAAAATGGAGGAGGAGTTGGAGGAGGTGGAGGAGGAGAAGGAAAAGAGGCGGAGGAGAAGGAGGAAGAGGAGGAGGAAGAGGAGGAGAGGAGGAAAGGAGGAGGAGAGGAGGAAAGGAGGAGGAGGAGGAGGAAAAGAGGAGGAGGAGGAAATTAAAATAGCAAGAACAAGTATCTCCCCAGGGATATTACAGATGACAGCTGGTGGTCAGATAGTAGAGGCCAGACGTGGGAGAAATCTCTGCTTTAAAGAAATGGGAGAGAAGGAGAGGCACAAATTCTCCTAAACGTGAAGATCTGGGAGCACTGGCATTTCTGAGTATTTTGTCATTAATGTTTACTTTTAGGTGCCTACCGATTGAGAAACATGCTGGATTCCCTTAGAAGGTGTGCCCTCATAAAGCTGGGTGATAACATTTATCTGGAAAGCGGCACCTGTAGATGATCTAGCAGTTGTAACACTGTCTCCCAACTGAATTTTTAAGGGCTCACAAGAATCCTGGGTTTAAAACAAACCTTAACAGTCATCTAGCCAGTGCCTGTGTCTCTCTGCTCCCCGCCCCCACCCAGTGTTTCAGTCTGGAAGCCCTGGCATTTCTATTCATGTCCACAGCATGGACATGAGGAACTCAGGAGTCACCAGAGCAAGCTTGGATGCTGCCCAGAGGCCACTTCTAAGCAACCTTCCATTGATTGCTGTTCTTGTGTTCCCTGGCTGGGGACCAGCCTGGCTTGACCCAGCACGATAATGGACATGCACAAGTGAAGCTGGGTACTGAAGGCTCTCAGGGCCAGGGTTCTGAGGGGGGTGCAAATGTGGGCCGGGGGCAGAGAGCCATAAAAACGGCTCTAGCAATGGGTTTTTCTCCTCCCGAGTTTCATGTTGCTGAATTCCTGTCCAGAAAATCTGAATCCACATAATCTTTTCTCTAGGGTATTTAAACTCTGCAAATGATACATTTTCTGTTTATTAAAAATGGAAAAGGCAGAAAGGTAAAAAAAAGAAAAAAACTCTCCTTGACCTCCAGTTTGTTGGTTTTGTTATTCTTTCTCCCAGTTGCCCTTGATTTTGATCATTCAGAAACGTGAGGGAGGAGAAAGAGGCTTCATCTCTCTGTTCACCTCTTCATGTTCCGAGGAGGAAGCAGCTGGTTCCTCTGCAGCCGGTTCCTCTGCAGCCAGTTTTCTCTGCAGATTAGTTTTTATCATTTTGAGAGGGTTGTCAGACATAATCTGATTTAATCTATGAGAAAAAAATGACAGAAGCCATTTCAGTTTCTGAAGAGACATTTGAACCATCCAGAGACTTACATTTGCTTTTAAAACACCTGTCTTCTGTCATTTTGCAATTGTGACCATTCTCCTGGCATTTGATGTCCCAGCCTTCCTGGGTCCTTCTCTAACTTTAACCTCCTAATTCTAATTATGGTACTAATAGCATTCACACCATAGATGATAAGATTTTAAGCTGTTATTTTTTCTAAAATATTTACCTTTTTAATTTCTGCATTCATCATCACTTGATCTCTGACACATGGAAATGCCACGCTTCCTGTTTACAGACAAGCCGGCTAGTGGCTTGCTTAGGGCTGTGATGGCATCTCAAGGTGAAGAGCGATGTGTCAATCATTATGTCTCACCAAGAGAAGAAAGCGTCAGGGTCAGTGGGGTGGAAAGGCTGCTTTCCTCCACTAACAAAATAATGGACGGGAATAATTTTGAAAAGATAAGTGTTTTCTGACATCAAACGTGTGATGACTTTTCTAGCACCAACAACCAATTTTCCACCAGCAACTGGGGGTCCACCAATTCAATTCATTTCTCACATTATCTACCTGGAGTTGCATCAGATCCCACAGGTTAAAGGGCTCAGTCTCACTTCAGATACCAGCTGCAAATGGTGTACCCAGGCTACCCACATGTCTAGCAGGTGACTGAAAATTCGAGGGTTCCCATACCCTTCTCCCCCAGGTTCAATAACTTTCTAAGATGACTGACAGAGCTCAGGAAAATACTTTGCTTACTTAATAAAATTTTAAATAATATACAAACTTATTTAATATATTTATAAATAAAATATATTTATTAAATAAATATTTAATATCTACTTATATAAAATACCCTGGAGAAAAGATTACATGGATTCAGAGTTTCAGAACAGGAATTCAGCAACATGAAACTCGGGAAGAGAAAAACCCATGACTTAGGTTTATTGGCTTATTCTAAAGGATGCAGCTCAGGAACCAAGTGGAAGGACGCAGCGGACAGGGCGTCGTGGCCGCAAGGGTGCGCGGAGCTGTTGTCGTAACTTCTCGCCAGTGGCCACCTTCCCTGCAAGTGGATGTGCTGACCAAGAGTGTTTATAACCCCGTCTCGAGCCCCTTTCTCACCCCTCCCCAGAGCTGTGAGTGCAATGGGCAGAAAGCTCTTTACTCCAGTCACTAGGTGACCAGCCCCCATGAAAGCTATCTAGGTGCCCAACCCTAAGTCACCTCATCAGCGTAAACTCAGGCCTCAGGCATGGTCAGAAGGGGCTCTGTATGAATCACAAAAGACACTCCTCTCACTCAGGAAATTCCCAGGGCTTTGGAAGCTCTGTGCCAGGAAAACCAAATCTATTTTCTTATTATACCATAATGTATTTTTTTAATGAAAGATAACTTTCCTTTTTCCTCCCTCCCTTCCCCTCTCTCATCCCTTTCCCCTCCTCCGCCCTCCCTCAATGCTTCCATGCCACTAGCATCCACACACATTTAGAGTTTCCTGTGGGCTCGAAGCAGCACAAATAGGGCCCAGGTGCCAGAGCCATGGAAGAATTGGGATTCCCCCAGTGCCTTTTAGATCAATGGCCCCTTCCTCCCTTCCCTTCAGTGTCCCCTCACAACTCCACACACTCTTCTTTTGAAGATTTAATGAGAAGGAATCTCACAAAAGGAGGGAGAGAAGGAAGAGCACACACTCCTCTAAATGTGATTGTCTGGGAGTCTAGGTTCATTGACGCTTCTTTTCAGATCCCCACTCTGTGGAAAACGTGTCAGGTGCTGTCTACAAAGATTTTGTCTGATGCCCCCTGTTCCCGAGGGACCTAGGAACCAAGTGCTTTCAGAGAACAACCTTTTTTCTAGAAGTTTGTTGTTTGTAGGGCCTTATTCCATATCCATTCTTGGGAAACCGTCATGGGAGCCTGTGGGGGTTGCTGGTGGGGCCCCCGGGCTCAGGATTGTGGACCTGGGCTCCAGGGCACACAGCATGAGGTTCCCACTGCATGTTGGCACTCAGTCTTCCCCACCCTTGGCTGCAGCTATGTTATGACTGTTACTACAGCTCCCAAGTCCAGCAGGATTTTGTAAAATGGGGAAATCTCTCTCTCTTTTTTTAAGCCACCATTCATCACTTGCCTGCCAGGGCCATATGACTTTAATCTGCTGCTGCACACATTATCTCATCTCATCCTGTGAGGCAGGGTACATGTAAGGAAACTGCAGTTCAGAGACAATGATTTACCTGAACAAGCTCACGCCGCTAGTCTCTGCCAGACCCTTGGTGCAAACCCAGGTCTGTCTGATGCGGATGCTTTTGGCAGCTCCCCCTACCTTTTCTGCCACTACGGTTACCTGAAAAGGGTTCCGATCCAGACCCCAAGAGAGGGTTCTTGGATCTAGTGTGAGAAAGAATTCAGGGCGTGAAAGTAAGTTTATTAGGAAAGTAGAGGAATAAAAGAATGGCTACTCCATAGAGAGAGCAGCCCCGAAGGCTGCTGGTTGCCCATTTTTATGGTTATTTCTTGATAGGCTGAACAAGGGGTGGATTATTCATGCCTCTCTTTTTTAGACCATGTAAGGTAACTTCCTGATGTTGCCTTGGCATTTCTAAACTGTCATGGAGCTGGTGGGAGTGTAGCCATGAGGATGACCAGAGGTCACTCTCGTGGCCATCTTGGTTTTGGTGGGATTCAGCCGGCTTCTTTACTGCAACCTGTTTTATCAGCAAGGTCTTTATGGCCTGTATCTTGTGCCAACTTCCTGTCTCATCCTGTGACTTAGAATGCCTAACCATCTGGGAATGCAGCCCAGTAGGAGGTTTCAGCCCTGCTTTACCCAGCTCCTATTTAAGATGGAGTTTCCCTGGTTTAAATGCCTCTGACACAATGGTCAGCCTGGTTTGGGGCAAGGGAAAACAGCAGATGGGCAGCAGCATCAGGGAGATTGAGCCAGAAGAACCAGCTCTGGTAGAACCCAAAGATCAGTTTGCTTAAAGTCAAATAACACAGGTAAGCCCTGACCCAGTGACTGACTAAAACATCCTAGCTTTCTGAACCCTGGCGTCCTCTTGTAAATGGAAGCAGTCATATCACTGACCCCCCCGAACTATGGTGAGTCTGCTATGGTGAGTCTGGACATACACAGGACACTGGACTAGCATAAAGGCTGTGATCTGGCCGGGGAGGGGATGAGCCCGTGGTTTACGCAGTGGGGTGTGCGGGGTGTGGGGAGGCAGCGTACAGCTCTGGCTGTGCCTTGGACGAGGTCTGGGTTTGACCATCCAAGCACTCCCATTCCCATTCCCAGTTCCTGTCTCCCCTCCCTCTCTGGCCATCATTCAGCAGGCAGAGGAGAAGGAGAGAAGTGCCTTGGCCTACCATGCCCACTTTCCAGGGCAGTTCGTGGAATCTTGGGGCCCTGACCTGTGTGGTAATAATGGTGAACGTGACTGGCTCTGTGATAATTAGTGACCGACACAGAGAAGCATCCCAGGGTGAGATGCAAGACTGTGGCACAGAAAGCACAGGTGTTGGCTGTGGCAGGGCCTTGTGCCCAGGGCAAGGGAGAGAAATGAAGGGAAGCACAGGGCAGAGGTGCCAAGTTGGAGCAAGCTGCAGGAAGCATGGCTTGGTTGGTGCCCAGGCATTCCTGGAAGACAACTAGGACAAGACCCACCATTCCTGGGTGTGCCCCTCCTGTCCCCTCCCCAACCACTTCCATCTCATTAGAGACCCCAGCAGGCAGCTGTCGATCCTGAATGCCCCAGAGGATACTTCTGCACATCACCCATTAACACATCCTCATTCCTGGAGGTCCCTGGCTGCAAAATGATGTCACTCACCTGGATAGTTCCTCTCCTTTGATGTCAGATTAGATCCTTCCAGACTTGGGACCATCTTTCTGGATGCTGCCTGCCCTCCTCAGAGAATGGTTGGTCTGGGACATGCCCTTTGCTTCCCTTGTTGTATCAATAGCTCTAGGCCCACAGCCCCTCATCTGCAATTCCCAAATCTCAGCAGCTCTGAAAATTTTTCCCCCTCCTTTGATGTTGTTTTCGTAACTTTGCGTCAAATTATTTTGGTCTAAAATCAAATTGAAATCTATGTGAATTGAGGCATTTATTTGTCTCACTTAGTGCAAATAGGCATGTTTTGCTGCAGAAATTACCATGTATTTGATTGTGAGGAGCCACCCTGGTCCCAGGTTGGGGTGGTGCATCACATACCTTTCTGGATCTTGGAAAGCCTGAGCTTCAGAGCATGGGTGGTACCAGGGGGACAGAATACAGGATAATGGTGCAATTATAGGAGCTTCTGGGCTCATACTTGTCAGCCCTGAGCCTCCTGTGGGGTGGTGCTGGTTATGTGGCAGCTGCAGGTGGGATCCCACCCGAGCATCCTCTGCAGAGCTTGTGGGCTCCAGGAAGGGCTGTTTAGCACCTGATCCTCGGAGGGATGACCCCAGACGTGGGTATTCCTCTGGCAAAAGTCACTCGATAACCTCAATTAAGGCCTGGCCGTGAGCTTGTGTGAGTGCTTCCTGAGTCTTCACCTGCCTCCTTTCGTCCTGACTCTGCGTTTCACCATCAGGGCTCAGGATTTGCATTGTCGGGTGTCGGAAGCACTATCCCTGTGACAAAATAAAAATTCAAATCTGAAAACATTCCTTTAGAAATTCTGAGAGGTTCCCATGCAGCTGCACAGTATTGCTTTATGGAAATAAATATTCCACATTTCTCCAGCCTGGTTCTTAGTCCAGTGGAAATAAGTGAATTCCTTTTTTCGAAGTATTCTTACAGTGAAAACTTCTAAGGCAAAACAGTTATTCATTTGGCTAGAAGTAACCCATCTACTGCAGGAGGAGAAGGCTCGGGGACATGCAGAGGGTTGGAATTAACTTTAATGATACCATCTGAATGTGTTCATGGTGACAGCAGAACCTTAAATGTGAGTTTTATGCTCTTCACAGTCATTTTGGAAAGGATTTTTGAATTCCCATTTTCATTATATTTTATAAATAGCAATTCAGTTATAATAAATGTCTGGAATTCTCTTTGGTTTTGCACTTACCTAATAATCGCTTATGAGAAATATTAGTAGCCAAGGAAGTGAAGTGCTGCTAATGTCATTGTGTGTGTCAGTCTTGGACAGATCACTATTTACAGTGGAATGTGTCAGAATATCCAGGGGTGAAGACTGTTCGTTTCCCAGATGGCCAGATTTGGAAACCAGACATTCTTCTCTATAACAGGTAAGCATATTGAACAAAGGAAAAAAATGATTTTATGCTTGCATACATGTAGCTATCACGTATATTTGAATATTTCACAGAGATGCTGGATATGTTATCTATGATCTGGGGCCACTGCTCCCTACACGGCTTTCCGAGCGGCCAGGCCTTTGAGAAGCAGCTCTGTCCCTGTAAGCCAGCATTCCCTGGTTTGGCATGCACACGTGCACACGCTGGCTAGCCTGCTACTTAAGACGCCCATGAAGTTGTATGTTCTCGGGGCCTAGTGTTGTTTCTGTGCATATTGGCACATGGAGTATTCTTGCATAAGGCAGTACCTTTGTTCTCTGAATGGCAGCAGTTATGACCAACAGCAGGAAGTGCTGGCCTATGGGATGCACTGCTGGAGCCCACAGTTTGGACCCACATCCTCGTCTATGTTCCCTGTTGTGCATTGGAGAGTTCTGTGGCAGAGATGGCTGCAGGTGAGCGTGAGGACTGTCATCTCTAGCTGCATGCAGAAACTTCCCCTGCAGGGTATATACCTGATTTCTAATAGTCTTTCTCCTGAGGTCAGGAAATAAGGGACACGTCGGTAAACCAAGACAGTCTGACTTGCAGACCAGATGCCTAAAAGGCAATTATTCAGGCAGGGTAAGTTTCTAGAAGCAGTAAAATTTCTCGTTAAACTGCATAGTCAAATAAGGGATCCCAGAACATTTCTGACTAATAAGGTGTCAGACCTCATAAATAACATCATGAAAAGAAAGTTATTTCCTAATCATGACCGCTACCTTTGGTCATGAAGAAGGAAGCCCAGGCTTTCCTGATGCAGGGAACAGTGTGACCAAATTGCCCTCCATGGTCACTCGGTGATCCCGCTGGACAAGCAATGTGTTGTCCTACATGGCTACTTCCAGAAGGCTGGGCGATGCTATTTCTTGTATGGACTTTTCATTCTGCCTCTGTCTTTGCATCTGGGGGCCGGCCACATTTCACTTGAATCATTGGGCCCGTTTCTAGAAGAGTATCCTCTTCTCATTTGCTGCCACTTTTCTGCTTCTCAAATTAGTTCAGACAACTGAGCTTTGAAAAACGTCTAAAATAGGAGTAAGTGGTCCCCTGTTGAATGGATCAAACATGTGCCTTTCCATGCCTGGACTTTGGGTCTTCTGTTTCTTGGGGGGCTGTATTAGTTTGCCAAGGCTGCTGTAACAAAGTGCTACAGACTCAGAGCCTTAAACAATAGAAGTTACCCTGTCACAATTGTGGAGGCCAGAAGTCTGAATGAAGGTGTTGTCAGGACTGGCTTCTTCTGAGCCTCTCTCCTTGGCTGGTAGATGGCTGCCATCTCACTGGGTTCACGTGACCTTCGCTTGTCTCTGTCCGTGCCCTAGTCTCCTCTTCCTGTAAGCACTGCAGTCAAATTAGAGTAGGGCCCCATGCTCATGACCCTCTTTTACTTTAATTACCTTTTTAAAGGTTCTGTCTTCAAATAGAGCCACACTCTGAGGCACCAGGTATTAGGATTTCAACATGTGAGTTTGAGGGAGATGCAACTCAGTCCATAATGAGGGCATTGTATCTGACTTTTTGAGGGCAAAGGGTCAGGGTTGAAGAAGTCTCCGTGTTAATTTTAGCTGTAATATTTACAGTCTGTATAACCTTTGAGTCTCAGATTTCTCCTTTGAAAAACGGGGAAAGTGCCGGCTTCACAGAGTTCGGAGGATCGCTCTGTGGATGTGTGTAGCACACTTAGTCTGGCACTTGGAAAAGAGCACACATTCCGTAAAGGCAGTTGTGTGTTTACAGGCAGAATGATGAGGATTCCTGCTTTTAGAACAAGATGGTAATTTAACAATTTAGAAAAAAATAATCAATGTTTTTCATTTTCCAATTCGGATTTTTTAAGTTTGAAATCAAGAATAAATTTTATAACATTCAGCCTGAGCAATGTACGAGACCCCCATCTCTAACAACAATAACGACAACAACAACAAAATTAGCTGGGCATGGTGACCTGCACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTAGAAGGATCCCTTGAGCCCAGCAGTGAGCTTTGATTATATCACTGCTTGCCATCCTGGGTGACAGAGTGAGATGCTATCTCCAAATATATATATATATATATATATATGTATATATATATATATACATATATATATATATACACATACATACATACACACACACATATACACACACACATACATACATATACATACACACACACACACAGAGAGAGAGAGAGAGAGCACCCCACCATATTATATGTATAACATGTTGGTGGAATCTTATTAACACGGTTACAAGAGGCAGTTTATATGGCCTATGTGTAGGATCTTTAACTCCAAAATGTAAAATGTTTGATGATTCCAAATGCTCTGGCTAATGAGGAATTTCCAAGTTGTAATTGAATTTCAAGGAGCAAAGATAGAGCAGTCTCTACCTGACAAATGTTACCAGGGTCCAGGCCCTTAGAAATGATCCCCACCTCCACATGCCTGACCCAGCTGCCGGTGCAGAACCCCATCGCTCACACATCTGTTGAGCTCTACTGAAGGATCCTGCTCGTTCCTCTTTCCCATGGTGGACATAGACCACGTCCGCCAGGCTTCATCATGGAGGATGTAGAGGCTGCTTCAATTTCTGCTTTTGTTTTCCTGAGACATGGAATGTAGGACTTTCTTTTTGAAGTAACTACTAAATATATTTTGAAGTAACTGCTAAATATATGGCCCGCAGGTCCACATGAACCCAACGTGGAATGAATAGATTTCAGAGAATATTTAAACCACTCATAGACACTTATCTATTGCTACAGAACAAACTCCTCAGAACTGAGTGACTTAAAGCAAACAACTCAGATTATTCCTCATGATGCCGTGGGCTGTCCAGGCCCATGTGGCTGGTTGTCTCTTTCACGTGGCATTGGGCACAGCCATGGGCTGGGGCTCCACTGGGCCGATGTGCTGAGGGGTACACTTCCACAGCGGGGCAGGTCTGGGCTGAGCTGGTGGGGACGCCGGCCCTGGCAGGAAGCTCAGCCATTCAGCTGGGGACTGTGCACCCACCCCTTCTGGGCCTTTTCCACAAGGCTCGGTGTCCCCCAGCTTGGTGGCCAGCAGTGCTCTGACAGGAAGGAAGGAGAGGCTGCTGGGACTCTTAAGGACTGAGCGTGAGGGTCCCGCAACAGCCCTTCTCCACATTCTGTTGGTCAGAGTAGGCAGGAGCCCAGCTTGGAGTCAAGAAAGGGGAAATCAGCACCCCTATCTAGGGCAAGAGGGAGGCCACAGGGTGCTCTGGGGACACTAGTGATCACAGCTAAGGAAGGAAAGCGGTGGAACTGCAAGGGTCAAAGTAAAGCCCCAGGAAACCGAAAGACCAGAAGAGGCGTGCATTGTGAAGGGGAAGGCACGCTCCGCCATGTGCCTGCTGAAATTGGCAATGTGGGAGGAGAAGCAGGCAGGAGGAGAGAGCTTCTAAACAAGACAGATCTTGTCATCTCTGCCCCCCCTTGCTGGCTGGCTTCCCCTTCCTGCCTGGACACACTGTGCAGCCCCCAGGTATGTGCTGACCAGCCTATCCCTACCCTGTAGCCTCGTCCACTCTCCAGCCCTACTGCTTGTCCTTTGGCTCATTGATGCACCAATGCTTCCAGGCAGAGTGTTTATATGAGCGTCTTGCGGGGCGAGGAATGCCCACCCCTTAACTCCCAGTTAGCAAGGGAAACCTCCCTGACACCCTCACCCCTGCCAAGTCTAGAACACATTTCTCTGTCACGTAGAAAAGGATTCCTGTCCACGATGGCACTTAGGGTCTGCTACCTCTTAGGGGCACCTAGCAGGGCACTTGATACACATTTATGCAAAGACAAGATGGAGAGAGGAAGGGAGGGTGCAGGAATTATTAGGAGGAGGAGCGAAGAAGATGGATCAGTGTAATACAGTGCGGCTAAGAACAGCCAGAGAAGAAAGAAAGCAAAGGAAAGAAATCATGTAGGCAACCTAGAAAACATTCAACTGAGACTGAGTCCAAAAATTCACACAGGAAATAGCAAAAATAGTCTTCACTACTAATATCCTAACCCTCTGATATTCTGTTATTGGGGATTTTGAGAGATACCGAATTTAATGCTTTCTGCCAGCTTCTAGGCGTGGAAAATAATATGTTCTGCTTAGTAGACTCATCTGTTAGTTCATTATGGTCTGAATGGAGTCGAGGGGCTTTTCCTAAAGGAGGGGGTTAAATGCATCCTGTGTAAGCCCCAGTTTTGAAAGCAGTGTTGATGTAGCTCAGCTGAAGCCTCCCAAACATGTCTGTCCTATTTCTCACTCTATTCTCGTTTGATATTGGAGTCCCCACGTGAGTCACTATTGCTTTTTGAGATATAATGCATTTTCCATGCTTTAAAGTGGCTGGGTCACTGCAAAACAGCCATCTCTGCATCATTTGTGGAATGGGCTGCTGTATTTCCTTGATGGGTGGGTAACAAGTCATGCTGCTGCCAGCCAGCTGGCCAGGTCGCTCTGAGGAGAGGATGGGCACGAATAAAAGCGTCTCTGTCTGGTGCTGATCCCAGTCATTTCTTTGTTGCTTTATTTTGCTTTACTTTAAGCCTGCGGCTCAAGGAGTTTTCTGAACACCATCTTGCCTAAAGTGGGTAGCAATTATGGATGGCTTGCCGTGATTTTCCCCTTTGGATGGAATTAAAGGCCTTGCTGGGATCAGCAGTCCGCTTGCAGAAGGACAGTCTGAATCCCGCAACTCTGCGGATGCCCCTACACCGTGCAGAGACAGGCAACTGCCTCACCCTCTCTGGGCTTCTCTGTTTCTGAGTTGCTCGGTCAGAAAATTCTATTGCAATAATGGAAATCTTTTTTGATGAAGATATTTAAAGATGTTTTTGTTGGCTCTGAAAGTTTAGAACAGCATGGGGTTTCAGCCATCCATTTTCATTGAGTGTGCAAAGCTGCATTTGTCATCTGCAGGGTTGTGTCTTTCACTCATTTTCCTGACCCTGTGGCTGATAGCAGAGGCTGGAGAGGGGACCTCTATGCAGGACACACTTGAGAGCAGTGTGGCCAAGCCTGTAAGCACTCATAATTGTGCTCATCATTGTTGCCAAGCGTCTTAGGGAACCTGGGGGAGCCAACCCAGGACAAGGATTCCTGAGCATGTAGCTTATTTGGGAAGGGATCCTGGGAAGCAGGATGAGGGGAGGGGGAGTGAGATAGGGAGGGCAGGCAAGCCGTTGGAGTGAGCATTGAAAAGCAAATCATACTGCGGGCAAACAGAGCCCATTCCTACTGGGGAGCTCTGGGAGACTGTGTATAGCACATCTCAGCCTTGTTCTGAGGAAACTGGGATGCTTATCTGCCAGCTGCCTTCCATCATAGGCTGAGAGCTGCTTCCAGGGGTGTCAGCTCCCTGGCACCTCTGGCTTGCCTGCCCCATGTGTGGATCAAGTGCAGAGCTGCAGATGCTTGCAGTAGGCAGCTGTCAGGGCCTTGGGCACAGGAGGATGATTGTCGACATGGTCTGCTACAGCGCAGATGAGCCATCCACTCAAGTTCTAGTTGCTTTCACCCTGCTTTGATTGTAGATCCAATCTCAGCTTCTGGTAGGGAGCATAGCAACAATATGGGTGGAAGGGAGAGAGTCCTAGGACTTGAGGGTCCTAGGGGTGAGGGTGTTCTCAGCCAGAGCAGAGGAGGCAGGCAGGTGGCAAATTTCACTGGACTAAAGAAGAGCCCAAGCCTGCATCCCAGCAAGGGGTGCCTATTCTACGTGGGCTGCGATGTATCTATTATGGAGTCATGGCAGTGCACACATGGAATGGCATCTTAGGGAGTGAATCTGTGAGATGTAGTGTTGTCATGGTTAATAGCTCCTGAAATTGTGGTATCCCTCAGCCTAACCGAGATTGGCCTGCTGGTGCTCAAAGGCTCATAATGCAGTCATGGCCAGGCTCTTGGAGGGCCCAAGGGCATCACTGGAAGGTGATGTGGTTGCTATAGTTTGAATATTTGTCCTTTACAAATATTTGAATATCTGTCTTCTCCAGAATTTGTGTTAAAATTTAACCCCTAATATGACAGTATTGAGAGGTGGGACCTTTGAAGGCCAACTGGGTCATGAGGGCTCTGCCCTCATGAATGCTTTAATCTATTCATGGATTAATGGATCAATAGGATATCATGGGAATGGGACTGATAACTTGATAAGAAGAGGAAGAGAGGCCTGAGCCAGCACCTTCAGGCCCCTCCCCATGCGATGCCTGGTACCACCTTGGCACTACAGAGAGTCCCCACCAGCAAGAAGCCCTCACCAGATGCAGCTCCTTGACCTCGGACTCCCAGCATCCATACTGTAAGAAATGAATTCTTTTCTTTATAAATTACCCAGTTTCAGGCATCCTGTTATAAGCAACAGAAAACAAACTAAGACAGTAGTAGTTCCAGGTGAGCAGAGGTAATTTTGCTGCTGGAGATCTCAGAGAAGGAGTTTTGAGGATGTGCTGTTACAGCTTCTGTATTAATCAGATATTCACACCTGAGCTGGAGGGAGGCTGTTTCTAAATCATGTGTTGTGGGAAGAGGGGGAGCAGCAGCTTGTTTTAAAGCAGTGAGTGGAGCCAGCCAACCTATGTTTGCATCTTCAAAGTCATCCTCCGAACTGTCCATCTCACTCTCCCAGGTCTCATCATGGTCGCTCTTGCTGTTTGTTTTTAATTTGTTCATTCACTCAACCAATATTTAGTGAAGGCTCCCTCAGCATAATCACACACTGTTCTGGGAACTAAGGATTCAGCAGTGATCCAGCCAGACCCAAACCCACCAGAGAAACAGAGATGGGGAAGAGAGGAGGGAGGCATGGGCCAGATTGTAGGTGATCCCAGAAAAATGAAGCAGGAAAGGGAATAGTGAGGGCTGAGCCAGAGGTCAGGGAGAGACCAGGAGACAGACTAGAGGGCTGCAAAGGAACAGGCCCTGTGATATCAAGTGGAGAGAGTGTTCCTGACAGAAGGAACAGCCAGTGCAGGGGCCCTGTCAAGAAGGCTTGTGAAAGACTTCGAAATGCAAAAAAAAAAAAAAAATAGTGAGGGAAGAGAAAAAAAGACACCTCGGTTCCTACAGAATACTAGGCATGGTCACAGGCACCTTCCTGGTCATCTGAGTCTGTAGTGGACTGTGCCTGTCATGGTCTTCAAACTAGTTTTCAACTCTAACTTCTAGAAAACTGATGGCAAAACCAATGATTCTAGTCCACGGAGAAGCAAATGTGTTTTGCTGGTGGACCAATTCCCCTGTTGACAGATTCAGATCAGTGTGCCTGGTTGTCTTTGTATGTGTCTGCTTTTAGGATGCTCTGCAGAATTGGTTTTAACATTTTCCTGGTTCCTTCCTTCATTAATGACTTAAGTAGTCTTTGACACACGATCACTTTATATTTGTGCAAGTGTCATGATTTTATCTTTTAAAAAATCCATCAATTGCCCTGAGGCGGGAACATGCTATCCAGGTCTGTCCTAGGAGCAAATTCAGCTGCTGTGGCTGGAGAGAATTGGTGGATGGGGAAGCCAGGGTTCAGAGAGAGGGTCAGAGACATGATGGGAGGAGCTGGGGACCAAGTCGTGGAGGCCTTGGCTTTGACTGTGAGACAGGAGAGGCCCTGATACCTTTGACAGAATTTTTGTTTCAGTTCCTTTTTGCTTTGAACATTTTAAAAAAAAATATTTATTCATATTCTCCTCTTGACTTGTTAGCAATTGATTCCCATCAGGTGATTTTGTCCAGAAGTTATTATCTGTTCTTTTCTGCTTGTACACTCCTCCCAGCCTGTGGCAGTGGGCAGGTTTTGCTTTTGTTGTTTCTTCTGACATCTCAGCAAGAGGAAGGGAGGAAGGGCAAGTGCGTGTGTGTCCTTAATCAGCCTCTGATGGCCCAGCTGTTTGCCTCGGGCTAACTCGGAGCCCACCTGTCTGCACCAGAGTGAGTGGACTGTCGCTGGCTGACTGTTAATGCTGTCTGCCTCATCCGGTGCTTACTGAAGGTCCCATGCACTGCGTTCAGCCTACTTGCCCGCAGCTCCTGGTCTTCAGCACCCTGGAGCCAAGCCCCCTTTACTGGGCACTCGCCCAGTGCCAGCAGATGATAGCCAGGAAATTGTGGCTTTATGCCTTCTTTCTGGACTTTATGAAGTCTGTTTGAGTGTCCACAAATCTCAGGGCGGGAAGCTGGTGCTCAGAGAGGTTCAGCCACTTGCCCGAGGTCACTCAGCTGGGTCTGCCTGACTCCATAGTCTGACTCATTACTGGCCAGTCTCTCGACACATCAGGAAAGAGCTCGGTCTCTTGTGCTTTATTTTCTAAAGTTAAAAAGCAGAGAGATCCCCTTTCCCTCCCTCTGAGCTGGCTCCACTTTCGCACCTGCTCTGGGCTGCTCTGCCAGGCTCAGCCTTCCACTTCCTAAAAAGAGTGAGTTTGTTTTCTCTGAAGCTGCTGTGGGGTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTGAAGCTGCTGTGGGGTTTACTGTCGCCTCTTGACTGATTTCACTCAGCATCTGACATTTTCTTTTCTTTGACCAAATCCCCTGCCAGCCAGTGTGGGCCACAGGGCAGTGCCACAGCAGAGCGTGGAATGACAGAACCCAACTGCTGTCTGTGCAAGAGTTTGAGCAGAATTTCAAGCAGAGGACAGGTGCTGCGGTGAATAGAATTTTGTGGGGATGGTGTTGCATTGAGGTGGCCTGGGTGAGGCTGTCTTCTGGCATGTGGCAACGGGCCAGTCCACGGAGCAGCTCCCCAACCCCCTGCACCCCCAAGGGCCCTGAAGCTAATCGTGCCCAAGAGCACGGCTTTTGGAGATGAGCTTATTGATCTTTGTGATGTGGAACACAGAGCCAGCACGGTTGTAAGGGCTGTGTGATAAATACATGAGACAGGAACTCAATGGGCGGTTCAGTCTTCATCATGAGCTGCCTGAGGGAGCAGTGCGGGCAGCCAGGTGAGGGCCAGGGTCCGCCGCCACCCCGCCCCTTCCCGAGCCTGCTGTGGGGTCCCTGCGCGTGTCCACTGCCCACTAGAGATGCGCTCTTCAGCTGTCTGCACAGGAGGAGACTTAGGAAGTTGTGTGTGAGGCATCAGAAGGCAGCTGGGCCTCCCCAGCATGCTAAGACCTCAGCAGTGCAGGGTGTGGGGCCCGAGCTGGATGTGCCCCATTGCTTGTATCAAAACCTGGAGAAACAGAGCTTTCCTTGTGGGCCAGGGCCACATGGTCGGTGGAGCTGATGCTGTCAGTCGGCCGGGTGGTATTTTCTGGGGACCTACTCTGTGTAAGACACTGTGCTTCTAGGAAGACGCACATTCACTGCCCTCGAGGCATGTGTAATCAGTAGCAAATCAGTTTACCGTGGGTGGTCTCATCTGACGTATTTTTGTGTCCTTCAGTGAAGTCATCTAAAATTACTCTGCTTCACAATTGAGGAAATGGTTCCTGAAATTAAATGGCTTGTTGACGCAGTTCTGAGGCCTTGACTCCACATCCTCGTGCCTTTCCCAGTCCTTGACAGGCTCTTTGTGGCTGTAAGACAAGGGCACAAAGTGCATCTTGCAGAGCAGAAGATGACGTATGTCAGGGACATAACATCTTAGAAAGATCTGGAAGAGAGAGAGCCTCATCCAGTGGGAGGGTGTGGGCAACTGTTCACGGCAGGGTGGCCATACGTCTTGGTCTGTCTGGGACAGCCCGGGTTTGTGCCTGAGGTCCTGGCACTGCTGTTAATGGTGCCTTTTTTCACTTTTAAGATGGGGCATTTCATGGAAAGATATGTAAGTTAGGTCATATGGCACAGGGCCCTTAGCGGGGAGGGGGAGAGATCACCTTGGAAGGGACTAAATGTGGCAGGATCCTCAATGCATATGCTTGGAATGAAAGGGAGAGGGAAAAGAACAGAATAATCAGGTCAGGGACTAGCTATAATCTAAGGAATTGCCACCAGTCCAACTGGACTTCTCTGGAAATCTGTCCCTGACGCCTGGCCACAGTCGCCTACTCTGGGCTGCTGTGTACCTTGGAGGACTCTTTGTAAACATCACACGATGCTGCGGATGTGAGTTTGATACTCTTGTTTTTCCCCACTGTCCAGTGAGCTCCTTGGGAGCAACCAAGTTCTATTCACATTTTGTAATCCCCCCAAGTTAGTGTGACAAGTAGCACATGGCAAGCAGCACATCGCAGTGGGTGAGGGACTAGTGGGGCCACTACCCTGTTCCAGGAGGGAGTTGCTGGAGGCCAGAACCTGGGCAGAACCTTGGAACTCAGGCTGTCTGGATCAAGAGAGCCATCTTCTAGCACCCTTAGATTAAAAATAAGTAAGTTCTGATTGTGTGGGGCAGGGATGTAGGGTATGGGTCCTATCCCGAGAAGCAAATTAGTCTAGAAATGATTCTCCTTTCTCCTCCACTACCCATACCAATCTATCTTGAAGGATTATGCATTTGAAATTACTCTAGTCATCTTTTCACATTATTTGTGGTCTTTTTTTAATATAAATTTTACATCCTTAGCTAATCACATTTTTGTGTTGTTTCCTTTATGGATCCTTTATGGCTTTGGGGTCCCAGACCAGGAGACTATCCATTTATTCTACTAAATAGTTTGTTTTTTATTGTGTATGGTTTTTTTTCCCTAAAATGTTTGTGTATGCTATGAGGTAAGGGTCTAACTTTACTTTTCTTTAAGGGATAGAAAATAATTCTAACAGCACTTATTGAGCAATACATCTTTCTCCCCATGGCATTGAAGTGGGATGGTTATATTCATTTATGCATGTGCCAATACCATACTGAGAGCTAAGCAGGGTGAATAAAAAGAGACATATGTCTTGAATATCTTGCTGCGATTTTAAAACACTCATGATAAAGGCAAAACCCTTATAAGCTCTCAAAGCAAAAAAAAAAAAAAAATCACAATAGCAAGAAACAGTAGCCTAGTAGAGGACTACTTTCAAATATTGAAGGGCAATTATTTTTAAAATAAAATATTTTGTTGAACTGAACTTTCTGGGCAAAAATGAAAGCAGTTTTAAATATGTAAAGACTCAAGTCTGAAAGAATTACTCAGAATTGTATTCCAGCAAAATGAGAAGAAACCAAGAAAGAGGCAAACCTGGAATATAATCAGCACTCGTGAGTGATGGAATCACTAAAAGGCATAGTTCAGTCTAATTATTTGATGATGTTGTTAAATGGTTTTTGTTGGCAGGGGACTAAGAAGTAGAAGAAGTAACAGCAGACGTTTGGTGTCGGCCTTCTTTGGTTCATGCATGATAAAGATAAACCTCGTTAAATGCACAAAATGAAAAAAAGTACAAGTAAATATGTATGTTAAATATTTGAATAGCTATCAGAGTAACAGAAATAGTGTCATAACTTCCAGACCACTAGAGATAAAATAAGGGACCAAAACCTGAAGTCGATACCTCTAATGCAAGAACAGAAAACTGAGAAACAGTGTAAGTATGAGGTCTCTCATGGATCCCTGGCATGGGTATGAACATTATTTTAAACTGAAGACATTTGAGATTAAACAGATAGGGAAAGAAGCTTTTTCAGAGCTTACTTATCAGACTACAGCAAAAACTTCTGGGAGCGAGCCTGGCATAAATCTCCTTTCTAGGGGAGTCTTTACTGGCTGGAAAGAAGATGGAAAAGACCAGTTGCACCTGCATAAACAAAACTTTCCCACAGACCTTCTTATCTCCCATTTGCTCCCCTAGAAACCGATTTGTTCTTTTCATAGAAGCCCTTCCTCTCCCCTCTCTCTCCGCTGTGCAGTATATAATCTCACCTTTAGCTGTTTGAAGAGTTGCATTTTTCTTTGTGCCCCTGTGCCCATGTAGGCATAAAAGTCAGTTTTCTCTTGCTCATCTGTCTTTTGTCAGTTTAATTCCTAAGCTCCCCCCCGCCAAAAGAATCTATAAGGGTAGAGGAAGAGCATTTCTTCTCTAACATGAGAAAATCTGGCCAAAAAAAAAAAAAAAAAACAGCCTACAAAAAACCAGAAAACAAACCTACTAGCAGAAACGAGTTAAAACAATCACTAATCACAAAAATTCAAATGGATTTAAATCCCATAACAGTTCTCAAACCAAAACAGACTCCTAGATGGGTTTCAAAAAATCAAAATCCAACTATATTGTATATACAGAAGGTAGATTTTAATCAAATAATCCAAAAGGTTGAAATGAAAAGGATCGAAAAACCATGTCTGCCAAATGCCATAAGAAGAAACAGATTTAGCATTGTTCTTATTTCACAAATATAGATGAAAGACAAAATACGTAAAAAGGGACAAAATGAATATTTTATATTGATTAAAGGAAAATTTATTGAGAAAACAAAGTGCTCATGAATAATTATGTTGCAGTGTGACTGCAAAAAATACAGTCAATGCTGATGAAAGTCAAAGGAGAAATTAACAAAAACCAGGATCTCAAGAAAGGGTAAGTATGCTTACATGGAATGAAATAAAACAGTGGTTAAAACTAACCCAGAAGATATATAGAAAGATTTGTATCTAACAAATATTTCCCAAAAGTAGTAATATTCACAAAAAATAAACTAAGACTGGAAGAAAATTCATAAGCAGATAAATATTACTCAGAAGAAAACTGGCAAACAAAGCTGACTGTTGAAAAGTCAGGTGAATCCACCTCAAAGTCAGAGATAAGGCAAAGATGAGAAATGTTAGGGACTGAATGATTGTGTCCCCTCGAGAATTAGTATGTTGAAATCCTAACCCCCAAGGTGATGGAATTAGAAGGTGGGGCCTCTAGGAGGGGATTGGGTCATAAAGGTGGAGTTTCATGAATGGGATTAGTGTCCTTATAAGAAGAGACACAAGGGCTTTCTTCCTGTCTCTGCTTATTTGGCCATCTGAGGACACAAGGAGGAGATGTGTATCTGCAAACCAGGACAGTTGCCCTCCCCAGACATCAGATCCGTGGGTGCTTTGATCTTGGACTTACAGGCTCCAGAACTGTGGAAGATAAATGCCAGAACTGACTAAGACAACAGCTATCACTGCTTTCAACTGCCGGGTGGATGCCCTAGCCGGAGCCCTATGACAGCAAGTTAAAGAAAGATATCTAAATATTACGAGAAAGAAAAAACACTATCATTACTTCCAGTTGGTTAGTCACCTAAAGGCAGACGCAGCTGACAAACTTTGAACTAATAAAAGATTTAAGAAAGAAGACAATAGCTGAGCTAGGTGTGAGTGAAGAACAGTGAAGTGAAATGGAAAGAACAGACCTCATTTACACTCATGATGATAACCATAAAATACCAAAGAATCAACCTGGTGCCCATGCACCAAACCCTTCTGAGGAAAACGATAAAAATTCACCAAAGCACCTGAAAGAGTAAAAGAGTCAGGAAGCAGCATGTGGGGTCTGCCAGCTCTCCTTCCCCTGCAGCTGGGCCATGTGTTGGAAGCCTGGAGTAGCAGCAGGGTTACTGCCTGGGGTCCCAGAGTCAAGGACTTAGAACTGCTGTGCCCGGGCTGCCTAGTAGACTCTAGAGACGCTCCGCTGCAGTCTTCTGGGGTCAAGAGGGGACAATCGGAAAGAGCTTTAAAAACTCTCAGGCTGCTCAGGGAGTTCTTAGATAGTGCTTTGGGCTCCATGTGCAGGATCTAGATCCTGCTTGCCTGGTTTGCTCTTCTGATTCGATGTTCCAATATCTGCTCTGGCTAAGAAGCTGCCGAGTGATTGTTAACAATGGAAACTGCATCTTTACCTCCTCAGGGTCTGATACAGCAGGTGTGGAGTACAGCTCAGGAATCGGTCATACATGGTCCCCCTGGATCACTTGTGAAAGACTCTGTCCTGCTGGGCATGAATGCCAGCTTGCATTCCTTTAATTAGATGGAAACTAGGAGGTATTTGGTGGCTGGAAGTCATGAATTTCAGCCCATACACTTCCTTCAATTACATGCTTGTCTCCCTCCTGCTGTCCAGAGAAAACCAACTGAATGATGAATAGTGCTCTCACCATTGGTAGCTGATAGCAAAAAAAAAAAATGATCCAGAACTTCATTTTGACAAATGAATGCTTCTCCCTGATACCTAGTTTGTGCTTCTCATTTTCCCAGGGATGCATTAATGCTAGAGAACTTTAGTGAATCACTACAGAATTACTTATGCATTTTGTAGTTAATAGGCAAAATATGTTGTGCCTGTAACATAGCTCCTTTGATGTTCTTAGTAAGCAGAACGTAGTATGGATTCTACTTTATTGACTTCCAGATGGTGCCTCTAAAGGTTATGACTATGAGCTAGTTAAATGTTTTGTCCCTACCAGTGGGTTCATGGCTTCATAAAGACCTGTGGTAGGTAGCATCTGAGTTTGTAGTTTGCATTTATTTCTGACTTTTAAGTCTACATTGACACAATCTCTTTATCTTGGCTTTGTTGAACTCTGCCTCATTTATTATGAAAGCTGACTTCAGGTTGAGGGCAAGGCAAAGAAAGAAGCCTTCGTATTTCAAAAGAACAAGATGGGTAGCCACGACACAGTCAAATTGGTTAATTTCTGTTCCTCGCTCCCTAAACTGCTAAATTTCATTTTATATATCTTCCTTCAGTCCATCTACTTAATATATTTTATGTGGTTAGACGGACTGCATTTTTCACTCATCCTGTTTTCCATGGGTTTTTCTCATCATCATTTTAATAGTGACATAATTCATAGAGATGATACTTTCTAGTTCACCATTGTTGGATTTAGTATGTTTCTAACAGATTAATAATTATAGGTCATAAGAAATGGAAAAAAAATTATAGGGAGGTACATTTTCATATTCCTCCTAATATTCCCCAGCAGTAACACCTTAAATAACTCTAGTGTAATATCAAAGCCAAGAAATTAACATTGGTATATTCCACAAAGTTTATTCAGATTTCACCAGTTTTACATTCATGCATTTTTGTGTAGTATATATAATTCTAAGCAAATTCATCACATGTATTGATTCATGTAGCCACCAACAAATTAAGATAAAGAACTGTTCCACGACTGTAAAGATCTCTTGCACTATACCCTTATAGCCACATCCCGCTTGTCCCTAACTACTGGCAAACACTAATCCATCTCTGTCATTGTGGCATTTCAAGAATATTTTATGTGTAGACTAATATAGTTTGTAACCTTTTGAGGGTGGCTGAGTAGTGGTCTGTGGTATGGATGTGCCACAATTTGTGTAACTATTAATCCATTAACAGATATTTGAGATGTTTTCAGTTTTTCGCTATTGCAATCATAGCTTCTATAACATCCATGTCCATGTTTGTTTGTTTTTGAAGATGTTTCCATTCGTCTGGTATAAATTACATAAGCACGCAATTGTTAGGTTGTATAATAAGCAGATGCTTCATTTTATAAGAAACTGCCATACTCTTTTCCAGAGTGGCCGTTCCCACCTAAGTGATCAAGTAATTCCGCATCCTCCCCAGAATTTGGTGTTATCACTATTTTTTTTATTTTAGCCACGCTAGTAGGTGTGTAGTGATAACCCATTGTGTTTTTAATTTACATTCTCCTGGTGGCTAATGCTGTTGAACATCTTACTATGTGGTGGTTCGTCACCTGTATATCCTCTTCATTGAAATATATGTTCATGTCTGTTTGCCCGTTTTCTAGTTAGATTGTGTGGGGTTTTGTTTGTTTTATTTTTACTCTTGAGATTTAAGAGTTCTTTATGCTAGATATGCCTTTTGTCAGATATGTGTTTTGAAAATATAGTTTGTCTTTCTGTAGTTTATCTCTTCATCTTCTTTACAGGGTCTTTCACAGAGTAAACATGTTCTTTTTAAAAATTACAGTGAAGTTTTTTATCAAATTTTACTTTGATGGATTGTGTTTTTGATGTCAAGTCTTGGAACTCATAGCCTAGAGTGCTGAAGATTTCCTCCTATGTTTTGTTCTAAAAGTTTCACATTTTTAAGTCTTACATTTAAGTCTGTTCTTTAAGTTGATGTCAATTTTTGGTATGATATCTGAGATTTACATCAAAGTTTATCCTTTTGCCTGTGGATTTTCAGTTATTCCAGGTCCACTCATTGAGAAGACTATATTCCTCTTCTGAATTGCTTTGAAAAAATCAGTTGGGTATATTTGTGTGGGTCTACTATTGGGTTCTCAATTCTGTTTTATTAATCTAGATATCTCTTCCTCTATTATAGTCTTTTGCTTTCATCGTATAGTAACGCTTAACATTGAGTAGAGTGTTTCTTCCCATTTTATTGTTCCTTTTCAAAATTGTTTTAGCTATTTTAGTTTCTTTGTTTATATAAATTTCAGACTGACTTTGTGTATCCATATGTACAAAACTCTTGCTGGGTTTTTAATGGGAATTGTGTTAAGCCTACAGGTTCTCGTAGGGACAATTATGTTGAATCTTCCAATCCATGATCATGGTATGTCCCTCTTATTTCAATCTTCTATGATTTTTCCATCAGTATTTTGTAGTTTTCAACATGTGAGATTTATGCTTGTTTTGTTAAATTTATATTTGTTTCATTTTTGACCAGTTGTAAATGATACTGCATTTTCAGTAACCACATGTTTACTGTTAGTATAGCAATTATTTTATGTTGATCTTGTATTTCTGACCTTGCTGAACTTACTCATTAGGTTTAGCAGTTTTTTTTTTAATTGTTTTTGTTTTGAGATTCCTTTGGATTTTCCACATAGACCATCATGTCACCTGAAAATAGTAACTTTTTAAATTTCTTTCTGATTTCTAGGCCTCTTACTTCCTTTACTTTCCTGGCTAGGATTTCTAGTATTATGCTGAATTAGAATGTTAAAAGTGAACAACTTTATCTTGTTTCTGATCTTATGGCGAAAGCATCCAGTCTTTCACTATTAAGTATGATGCTAGCTGTAGGTTTTTTGTGGAATTGCTTTTATCAGGATGAGGAAGTTTCCCTCTATTCCAGTTTTCTGAGACTTTTTAATATGGATGAGTGTTGAGTGTTATTACTTGCTTTTTCTGCATCAATTGATATAATCAGGTGATTTTTCTTCCTTGGCATCTTAATATGGTAGATTACATTGATCAGTTTTCAATTATTGAACTAGCTTTACACTCATGGAACAAACTCTACTTGGTCATGTGTGTAATTCCTTATATATACTGCTAAGTTGTATTGCCAATATTTTATTAAGGGTGGTTTATGTATATTTATGAGAGAATGTGGTCTGTAGTTTTTGTTTTGCATTTTATAAATTTTTTCTACTGTCTTTGTCTAGTTTTGGTTATGAGGTTAATAAAAGCCTCTGTGTTTTATCCTTTTTTATTTACTGGGAGACAGTTATAGAATTGATATTAATTCTTCCTTAAATGTTTGTTAAAATTCCCCAGCGAAGCCATTCAGGATGTGGAGATACCTTTTTAAAAAACATTTAAAATTATGAACTCAATGTGTTTAATTGTTTTAGGGATCTTCAGCTTATTTATAGCCTATTGGTTGAGTTGTGGTAGTTTGTACTTTTCAAGGAATTGGTGCATTTCATTTAAGTTGCTAAATGTATGTGTTAATTTCTATGTAAAGAGTTGTTCATAGCTTTCCTCATCATTCTTTTGATGTCTACAATGTCTGTGTAGTGACACATAGAATACATTCGTGGTATTAGTTTGTCAATTTTATTGATATTTTCAAAGAAGATTTTCATTTCATTGATTTTTTTTTCTTTTTTTTCTCTTCTCCGTGTCAGTGATTTTATACTTTTATATTTATTATTTACTTCCTTCTACTTGTGGGGCTTGTCTTCTCTTTTCTAGTTTCTTACCGAGTGAGCATAGATATAGACTTGAATCTTTTTCTCTTTCTTAAAATAAGCAGTACTATAAATTTATTCTTAGCACTACCAGCATGTCATACATATTGATACATTGCATTTTTATTCAGTTCAGTGTATTTTTTTCCATTTCCTTGAGACTTTCTCTTTGACTCATGGATTATTTAGCAATTTGGCATTCAGTTTCCAAGTGTTTGGAGATTTTCTTGTCATCTTAATGCTATTCATGTCTAGTTTGATTCCATTGTGGGCAAATATCACACTTTGTGTGGTTTCACTTCTTTTAAATGTATTGAGGTTTTTCTTAGGCTCAGGATATGGTCTATCTTGGTATATGCTCCATGAGTACTTGTTGGTAGACAGTTTCCTAAATGCCAATTAAGTCCTGTTGTTTGATGGTGTAAGTTCTTTTATATCCTTGCTGATTTTCTGTCTAGTTGCCCTGTCATGAATTATTGAGAGAGGAGTGTTGAAACCTCCAAATATAGTTGTGAACTTGTCTATATCTTTTGAAAATTTCCATCAGTTCTGGGGTCATGTATTTTGAAGCTTTCTTGTTTGAGAAAGGATTTATGATTGCTGCATCTTCTTGGTAGACTGAGCTTTTATCATTATGTAAATTTATATCTATCTTTCATAATTTTCTTTTCTCTAAGATCTGCTTTATCTGATAATAATATAGTTACTCTTGTGTTTTTTGAGTAATGTTTGCAGGGTATGTGTGTCTGTGATATATATATATTATATATATATATTCTTCGTTTTTTCTTTCCTGCCTATGATGTACTTAACTTTTTTTTAGAATTTCTTTTTTAGAATTTTTAGAATCTTTTTTATTTATAGTGTTTTTGAGTATGTCTCTTTGTACACCTATTTCATGGTTGCTCTTGATATTACATTTTATGTATGTAACTTATTACGTTACTGACTACTGATATAAACATCTTACTGGTTCAAGTAAAGTAGATAAATTTTCTCTTCCTTCTTTTATTGTTTTTTTCTCTCTTTCAAGAACTTCCTTGAGCCATACTTCTTGGGTGATTCTGCTGGTCACTATTTCTCTTAGTTTTTTCTTCATCTGAAAATGTCTTGACATTTCTTCATTATTCCTGAAAGATATTTTAACTGGATTTAGAATTTTGAGTGTACAGTAAGTTATTTCAGCATTCGGAAACTGTCATACCACCTCCTGCTGGTCTCCGTGGTTACTGTTGAAAATTCTGCTGTCATTTAAATTTGTTGTTGTTGTTTAGTTTTGTTTTTCCCCCTTACGGATCATTTTTCTCTGGCTGCTTTCAAGATTTTCTCTTTGTGTTTAATTTTTAGATGTTTGATTATGATGATTCTTGGCATTAATTTTTTTGTATTTATCTGGTTTGGGTTTTACTCAGCTTCTTGAATCTGTAGATGTATATCTTTTGCTAAATTTGGAAAATTTTTAATAATTTCTTCAAACATTTTTCATTCTCATTTTCTTTCTCTTCTTTTTCTGAGACTCTCATGACACAAATATCAGATTTTGTTATGGCTTCACACCCCTGCAGGCTGTGTCGATTTTTTTTCTTTTTTTTGGTCTATTTTACCTTTGTTGCTCCGATTGCATAATTTCTATTCTGTCTTCAAGTCAGATTCTTTCCTTTGCTATCTCCACTCTACTATTGAGCCCAGCCTACATGTTGGTAATCCCAGTTACTGTATTTTTCAGTTCTAAATTTTCATTTAGTTTTTCTTTATATCTTCTATTTATTTGTTGAGACTTTCTATTTTTTCACTGGTTTCAAACATGTTCTTAATTGCCTACCAAAGCATTATTATGATTGAGGTTTTAAAATCCAGAGAATTCCAACTTTCTGAATTATCTGTTTTGGCATCTGCTAATTTTCTCTTCTCATTAAAGTTGAGGTTTTTTTCTTGATTTTGGTATTACAGGTGATTTTTAAAATTATATCCTGGACATTTTGGGTATTATTGTTTGAGACTCCAAGTCTTATTTCAGTGTTCCTTTTCACTAGACCTCCTCTGACACTGTGCTAGCAGAGGAGGGAGGACACCACCCCTGCTGTCGTGTGGTTCAGGCCCCCCACTCAGCCTCTGTTGACACCTGGGAGGGATGGGGACCTTGGTACTGCTAGGTGGGAGTGGAAGTCCAGGCTCCCCAAGTGTTCTCCACTGAAACAGCAGGAGGCGGCTGGGTCAAGATGAGGTCACTGCTTGGCCTTCTCTGACATCACCTCTTGCAAGTATGGGGAGGAGTGTCTCCCTTTTGCCTGGGGATGTTTGAATCTAGAGTGCTCCCTGGGCCTTTGCTGATGAGGCTGCTGGTGGAGTCCAGCTTTTTCCTTTGGTGTTTCCCTGGGGCAGCGCTCTTGGCTAGACACGGTCCAGCTGTCAGGCTGCTTCTCTCCTGACCATTTGGCGAGAGAGGGCAAGCTTTCCTCAGGACTTCTTTGGTCTGTACCTGTTGGGGTTTTTTTGGTGCATTCTTCTCCAGAACCCAGTTTGGAATAGGTAAGATAAATAGTAAACCTAGGGATGTCAGCACCATGCCGTTCTGCCTGTCACAAAGGTGTGATCCCTTCTGCCTTCTTCTCTGAACTGTTGACAGCCTTCTTATGTTTATTTATGGATTATGTGAAGACTTCTTAGTCATATTTAGCAAGAGTAATAATGATTACTCAGGTCAGCCTGTCATAACAAAATACCATAGACTGGGAGGCTTTAAATAATAGAAATTTATTTTCACACAATTCTGGGAGCTGAGAAGTTCAAGATCAAGGGTCTGGATTTGGTTCCCTGAAGAGAACTCTCTCTGGTTTATGGCTTCCTTCTCATTGTGTCCTTACATGGCAGAGAGAAAGAGAGAGGGAGTGGGAGAGGGAGAGAGAGGGGCACGTGCTGGCTTCCCTCTTCCTATAAGGCCACCAGTCCTATCAGAATAGGGCTCTACCCCTGTGACCTGATTTAACCCTGGTCAGCTCTTGCTTATCGTTTTTAGCCGTATTACCTCCTTATCGTTTTTCTTGTATTTATGCTGTCATAGCAAGTGGCATTTTTCTGAAAGCATATGCTTAGTTTATTTAGACTTTATATTTATTCAGATTAAGGTTGGTCAATTTCTTCACTCAATCTGAAGGAAAAGCTCTTTAAAAAATCAGCCTGATCATTTTTCAATGAACCTCTGGTGTGGACTTTGGGCATCCGATTGTGTAGGAGGCTCTCAAGGCTGGCTGTTTGCCCAGTCAGCATTGTCACTGGGGGACGAGCTGGCAGGGTGCAATGTTGTTCCCTTCACCTTTGTGTCTCCAAGTGACCCTTTCCTCATAGGGATGAATTTCCACCCATGATGAATAGTCCTTGTGTGCATAGTAATCCCAGTGTCAGAACATCTTCTCCTTCCACTGCTGGGGATAATTAGCTTCCTTTTTCTTTTGTTTCATACATCTGGAGCCAGAAAAGGCATAACAGGTCACATAGTTTAGAAATGGACATACTTTTTAAAAAATTTCATGAGCTCCTTCACGTCCATTTATCTAGGCTACGTAAAACTGTTAGAAGGAATGCCCAGGCTACAAGCTATAAGCAGGCAGGAGGGTGGGGCCCGTGGAGCCCAGCTCTCTCCCACACGAGGCCCTGGGAGTTCAGTCAACCATCCTGGGTCGCAAAAGTCATTACCCAAGAAGGCGGGAGTAAAACTCGTGCTTCTGCCCTCTTGCCCTGTACGAGGTGGGTTGGAACTGAGAAGGCCAGGACCTTCAAAATGCTGCATTCTCCCTGAGAAGTTGGAATTGAAAAAAATAAAATCTACCATCCAGTGCAAGACGATGAAAAAGAAGCATGACTGTTTTAGGCTGTGCTCAGTCAGGGCTCAGAGTCTTCCATGGGAATTCACAACAGATGAGGGAAGGGGTGCCTCCTGGTGCTGGTTTGATATGTCCAGCAGAACCCAGGAAATTCCAGCACCAATTGTAGTGGCATGCAAAGTGGTCTGATCTGTGAGGCTCTGGGCACCTGGCAGAATGGAGTGCAGGGCACCTGGAGAGAAGTCCCCCTCCGGCCAGGTCCACAGGATCTCCATAGACACGGTAGCAACACAGGTTGGGGATTCATTCCAGTATGTCCAGTCAGCAAGGTTCATGTGCCATGAACATGCTCTGCAGATGGTGATTGGGGTTTGAGACATGGGTTTTCTGCAGCCTGACAAATATTCCATGCTCTGATAAGTGTCCAGGTGTGAGGCCAGGTGTGCAGGCAATGCTGTGAGAGGGCAGCCAAGGGCTCTGCCCCTTTCTCTCCTGCGTCCTCCTCCCTCCACATCCATCCTGTCCCACCCCTGTGACTACATGTGGGTTTTTTTGTGTGTTTTTTTTTTTTCTGAGACTGAGTCTGGCTCTGTCTCCCAGGCTAGAGTACAGTGGCGGGATCTCGGCTCACTGCAACCTTCACTTCCCAAGTTCAAACAATTCTTGTGCCTTAACCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATTCCCGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCTCCTCGGCCTCCCAAACTCCTGGGATTCAGGCGTGAGCCACCACACCTGGCCTGCATCTATATTTTTAAGCTCTTGTGCCATTTAGCCTTCATTAATTTTTTTAAGAAAACATTACAGATGAAAACTGTATGAGGAATGAAACACTATAAGAAATAATATGGAAACTCAATTTTTAAAAATCAGCTAAAAATGAACTTCAAATTAAAACACATACAGAAACATCTCACTTTGAGCAAGCATTCACAAACATAGCAAAAGGCAGGTTTGGACTCTTAAACACTTAAGACAATAGAAACTGACAAATGATTTGAAAATAATTACACTCAAGTAAGAATTAAAAACACAAATGAGAGAAACCCTTTAAAAAGCAACTTTGAAAAGAATCAAGTAAAATTAAGAGAGATGAGAAATAATATAGCCATCAAAATTAAAGACAGTGGAGGCATAGAATGTCAGATGAGACACAGTTGAAGGAGCAGAGGCAGTTTCCTGCGTGAATCATAGAAAGCTAAATAGATGGAAAGTAGGAAAGAATGATTTACGGTCGTGCAATAATATCCAACACTTCTGTAGTGCTTCTGTGCACCAGGTCCTGTTTCAAATGCTTTACATATATTAACAACCTTCTGAGGAAAGCGCTGTGATTATTTTCAGATATGACAGCTGGAGCACACTGTGGCCAAGGTCATGCAGAAAGCAGGTCTGGAAGCCTGCACCCCCCAGGAGAGGCTGTGCCTGACAAGGAGGGCTGCTTCCTCTCATGCCGGGGATAGGTGCTCCCATACACACTGGCTAGAATAGTAGAAGGCAATAATAAATTGCATGTGGGAGAAATATTAAAAGATTATTTTCAGAAAACAGGTAAAGTTATGGCTCACATACAGATATAAAAATGAGCATGTTGAAGAATCTATTTGACTCATATCACATGAGGAAACAAAGCAGATGTTCTCAGTTCAATGGGAAAGTCAAACTAGTACAAATTTATATAGAGTAAAGGAATTTCGAGATGAATTCTAAATGGACACAGAACTTGTTTATCTAAAGGGGCAGGAAGTCAAGGCACTACCAATTAAATCACTACTGGGCGACTGAGAACTTCCGCATCTATCAGCTGCTTACGGTCCGCGCACAGTGGCAAAGCAGCTCAGACAGTGAACAGGGCGAGACTTGCTAAGTGAGATCTATGTGCTGTAGGGGACACATCGTTTTCCATTGAAATACAATGATTTTTTTCAACAGAAGCCATGTCCCAAAAGAACAGCTGAGGATGTAATAATATTGATGAAAAACATACATCCTCAGCTTCAGGAGATAAAAGTCTGAGGAAAGATATGTGATAGGAAATGAGCCCAAGACATATTGTGCAAAAAAGCTGCAGGAATGTCCAAAGCCAAAAAAAGATCCTAGAAGCGATGAGAGAAAAATAGATAGCTTGCTAACAAAGAGATGGCAATTAGACTGACTGCAGACCTTTTAAAGGCAACAGTAGAAGCCAGAAAAATAAACGAAAATAACGTCTTTTAAGTATGAAAGGAAATAATTGTCAACCTAGAGTTTTATCCTGAGCTAAACCATTCTTTACCTGATGGGCAAAATCAAGACATTCTCGGGAAAACATATACTAAAGGAGTTTACCGTGCAGGGGCTGTGCTACTATTTTAAAAAACTACCAGAAGACGTTTAGGAACTAGGCATGAGAAGCAGTGAGCGAAGCAATTGGCAAAGATTCAGGTACATGTAAACAGATTTGGTTATATAAAATAATAATGATGAATTTGAGAGTATTAAAAACAAAGTGGGACAGGGCGCAGGGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGGTGAGGCAGGAGGATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCACCACTGCACTCCAACCTGGAACCTGAGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGATGGAATTAAAATACTGGAAAATATAGCATGAAATAGTAACTTGGACAGTGCTTGGAGGTAAAACCCTCAGGTGTACTTATATGACTCTGGAAGGCCATGGAGACGTCAGCTTTAAGTGAAATATACAAGGTTAAAGTGTGAGAATAACCACCAGACCAGACACATTAAGAATACTATATTTAACTTCCAAACAAGTAGGGGTCGAATGGGGAAGGGATGAAGAAAACAGGAGAAGGCCGGCGCGGTGGCTGACGCCTGTAATCCCGGCACTGTGGGAGGCCGGGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAACAGGAGAAACCTAAATGCAATCCAAGGAGGAAGAAGTCAAAAGCATAACATTAGATGGTAGAAATGAAAACAAATATTACAGTAGACAAGATAAAAGTAAATGGGATGGCCAGCTGGTTAAAACACAGATCTCCCCAATATATCTCTATGCATTTAAATCGAACGATAGACTGTTTAGATGAAACTAAACCATATATACGTAAAGGATGAACGCAAAAAAGGAAAAACAAAAACAGGAACAAAAATAAAATGTGAGTGGCTATGTTTACAACACCCCCCCCCCACACAAACACAGTAAGAAAAACAAGTATAATTAAGGTTAAATAAGGTCAGGTGATAGTGATTTTTTAAAACTAAGGATATATAACAAATCTTACATGTATATATCTAATAAAATTGCTTTGAAGAAAAATTGGTAGAATTTAAAGTTTACTGGATAAGTCCACAATTACAGTAGAAGATTTTAATGTACCTCTTTTAGTAATTGATAGTGTAACAAGGGGAAAAAAAATGTAAGTATGTAGGAGTTTTGAACAACACAGTTAACAAGTCTTACCCAATATATAGATATAGATACAGATATAGAAAAAATGCATCCTCATTCCACTAGAAAATAAATATATGGAAAACTGGATATCTAAATGTGAATAAAAACATTTAGCATGTGTGGTGTGAGTTTGTGTGTGTACGTGTGTGTGCACACATGCACTCACATATGTATAGGAATGCAGGCAGACATACATAGCCTTTAAATGCTTATGTTAGAAAAGATACTTGTCTAAGCATCTTTACCATATGATCCAACAATTGTCCTCCTCAGTATTTACCCAAAGGAGCTGAAAACCTGTGTTCACACAGAAACCTACACACATATGTTGATAGCAGCATAGACATCTTTTTTAGGAAACCCTAAAGGCTTTTAATATCTTTTTTGGGAAAATGTGTGAGATAATTACCAAACTCAAGAAGTTATAAAATATAACATTAACTCCAATGAAAAAAAGAAGGAGGAATAAAGATAAACCTAGAAATGTATTAAATAAGAAAACTAAAATAGAGATCAACGAAGGACAAATTGGTTTTAAAAAAGAACTAATAAAATCAACATACCTCAGGAAATAATTACCAAGAAAACAAAGAAGGCACAAACAAACATTTACTGGATATAAAAGGGGTTTTCAACTACAGAAAAATACTTAAAAATAGAATATTGTGACACAATTTTATGCCAAAATTTTGGAAACTTAGATAGATTTAATATTTTCTAGAAAAATAGACCAAAAAGGGAATAGACTAGCAAAAAAACAGACTTTGTTTTTTAAAGCAGTTTGAGGTTCATAGCATAACTGTGTGGAAGGTACAAGTTCCCATGTCCCCTCCCAACCCCCACCCAAGCACAGCCTCCCCCATCATCAACATCCCCCACCAGGGCCGTACAATTGAAATAGATGAACTGATGCAGACACATCATTACCACCCAGAGTCCATAGTTTACATCAGGGTTCTCTCTTGGTGGCGTATGGGTTCTGTGGGTTTGCACAGATGTATAATGACCTGTATCGACCATTATAGTATCATTCAGAATAGCTTCACTGCCCTAAAAATCCTCGGTGCTCCACCTATTCATCCCGCCCTCTCTCTGCAATCCATGGCAGCCATTGACCTGTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGTGTATCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACGTCCCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTACAGGTGCACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCGGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCTGTTTTGCTGTCTCCATTGCTTTACTTTTCCTAGAATATCATATAATTGGAATCTTACAGTCTGTAATCTTTTCAGATTGACTTATTTCATTTGGTAATATGCATTTAAGGTTCCTCCATGTTTTTTTCATGGCTTGATAGCCCATTTCTTTTTAGCACTGAATAATAATCCATTGTTTGGATATAGCACAGTTAGTTTATCCATTTCACCTACTGAAGGTTGCTTCCAAGTTTTAGCAATTATGAATAAAGCTGCTATCAACATATGTATGTAGGTTTCTGTGTGAACACACGTTTTCTGCTCCTTTGGATAAATACAAGGGAAGGCAATTGTTGGATCACATGGAAAGAGTATGCTTCGTTTTGTAGGAAACTGCCAAACTGCCTTCCAAAGTGACTGCACCATTTCTCATGCCCACCAGCAGTGTATGAGAGTTCCTGTTGCTCTGCATCCTTGCCAGCATTTGGTGTTGTCAGTGTTCTGGATTTTGGTCATTCTAATAGATGCGTAGTGGTGTCTCAGTTTTTTTTTTTTTAATTTGTATTAAATATGACAATGTGGAACATATTTCTATGTGCTTCTTTGCCATCTCTATATTGTCTTTGCTCAGGTGTCTGTTAAGGTCTTTGGCCCATTATTTTAATTGGATTGTTTGTTTTCTTATTGCTGAGTTTTAAGAGTTCTTTGTATATTTTGGATTACAGTTCATTATTAGATGTGTCTTTTGCAAATATTTTCTCCCAATCTGGAGGTCATCTTTTCATTCTTTTGATCAGTATATTTTTAAAAAAGAAATTCAAAAAGGTAGGTTTACAGGCAAGTTCCACCCAGCATAAAATATCATTATGAACATAAATGTATAAGCCTTTTTTATTATTATACTTTAAGTTATAGGGTACCTGTGCACAATGTGCAGGTTTGTTACATTAGGTGTACATGTGCCATGTTGGCTTGCTGCATCCATTAACTGGTCATTTACATTAGATATTTCTCCTAATGCTATCCCACCCCCAGCCCCCCACCCCCCGAGAGGCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCGTCTATGAATGAGAACATGTGGTGTTTGGTTTTCTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTGCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTACTCATGGTGTATGTGTGCCACATTTTCTTAATCCAATCTGTCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAATATACGTGTGCATATGTCTTTATAGTAGCATGATGTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGAAATCTTCCACTGTCTTCCACAATGGTTGAACTAGTTTACACTCCCACCAGCAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCTAGCATCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGAGAGATGGTATCTCATTGTGGTTTGGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTGTTGTCTGCATAAATGTCTTCTTTTGAGAAGTGTCTCTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTAAGTTATTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGGGTAGATTGCAAAAATTTTCTCCCATTCTCTAGGTTGCCTGTTCACTCTGATGATGGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAAATCCTATTTGTATATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTATGTCTTAGGTTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTATACATATGGCTAGCCAGTTTTCCCAGTACTATTTATTAAACAGGAAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTCTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTGTAGTTTGAAGTCAGGTAATGTGATGCCTCCAGCTTTGTTGTTTTTGCTTAGGATTGTCTTGGCTATGTGGGCTCTTTTTTGTTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGAGCAGTATGGCCATTTTCACGATATTGATTCTTCCTATCCATGAGCATGGAATGCTCTTCCATTTGTTTGTGTCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAATTGGATTCCTAGGTATTTTATTCTCTTTGTAGCAATTGTGAATGGGAGTTCATTCATGATTTGGTTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTAATCAGCTTGAGATTTTTGGCTGAGACAATGGGGTTTTCTAAATATACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTATTTGAATACCCTTTATTTCTTTCTCTTGCCTGATTGCCTTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAAGAGGGCATCCTTGTCTTGTGCCAGTTTTCAAAGGGAATGATTCCAGTTTTGGACTATTCAGTATGATATTGGCTGGGGGTTTGCCATAAATAGCTCTTATTATTTTGAGATACGTTCCATCAATACCTAGTTTATTGAGAGTTTTTAGCATGAAGGGCTGTTGAATTTTGTCGAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCATTGGTTCTGTTTATGTGATGGATTACATGTATTGATTTGCATATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCAACTTGATCATGATGGATAAGCTTTTTGATGTGCTGTTGGATTCTGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGCTCCTCAGGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCAGCTTTGGTATCAGGATGATGCTGGCCTAATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCCGAAGAAATGGTACCGGCTCCTCTGTACCTCTGGCAGAATTCGGCTGTGAATTTGTCTGGTCCTGGACTTTTTTGGGTTGGTAGGCTATTAATTATTGCCTCAATTTCAGAACCTGTTGTTAGTCTATTCAGAGATTCAACTTCTTCCTAGTTTAGTCTTGGGAGGGTGCATGAGTCCAGGAATTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGTATAGAGGTGTTTATAGTATTCTCTGACAGTATTTTGTATTTCTGTGAGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGCGTCTATTTGATTTTTCTCTGTTTTCTTCTTTATTAGTCTTGCTAGCGGTCTGTCTATTTTGTTGATCTTTTCAAAAAACCCGTTCCTGGATTCATTGATTTTTTGAAGGTTTTTTTGTGTCTCTATCTCCTTCAGTTCTGCTCTGATCTTAATTATTTCTTTCCTTCAGCTAGCTTTTGAATTTATTTGCTTTTGCTTCTCTAGTTCTTTTCATTGCGATGTTAGGATGTCAATTTTAGATCTTTCTTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTACACACTACTTTGAATGTGTCCCAGAGATTCTGGTACGTTGTGTGTCTTTGTTCTCATTGGTTTCAAAGAATATCTTTATTTCTGCCTTCATTTCGTTATTTACCCAGTAGTCATTCAGGAGCCCGTTGTTCAGTTTCCATGTAGTTGTGCAGTTTTGAGTGAGTTTCTTAATCTTGAGTTCTAATTTGATTGCACTGTGGTCTGAGAGACAGTTTCTTGTGATTTCTGTTCTTTTACATTTGCCGAGGAGTGTTTTACTTCCAATTATTTGGTCAATTTTAGAATAAGTGCAATGTGGTGCTGAGAAGAATGCATATCCTGTTGATTTGGGGTGGAGAGTTCTGTAGATATCTATTAGGTTCACTTGGGGCAGAGCTAAGTTCAAATCCTGGGTATTCTTGTTAACCTTCTGTCTCGTTGATCTAATATTGACAGTGGGCTGTTAAAGTCTCCCATTATTATTTTGTGGGAGTCTAAGTCTCTTTGTAGGTCTCTAAGGACTTGCTTTATGAATCTTGGTGCTCCTGTATTAGGTGCATATATATTTAGGATAGTTAGCTCTTCTTGTTGAATTAATCCCTTTACCATTATATAATGGCCTTCTTTGTCTCTTTTTATCTTTGTTGGTTGAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCTTTTTTTTTGCATTCCATTTGCTTGGTAGATCTTCCTCCATCCCTTCATTTTGAGCCTATGTGTGTCTCTGCATGTGAGATGGGTCTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATATTCTAGTCTGTGTCTTTTAATTGGGGCATTTAGCCCATTTGCATTTAAGGTTAATATTGTTATGTGTGAACTTGATCCTGTCATTATGATGCTAGCTGATTATTTTGCCTGTTAATTGATGTGGTTTCTTCATAGCATCGATGGTCTTTACCATTTGGCGTGTTTTTGCAGAGGCTGGTACCAGTTGTTCCTTTCCATGTTAAGTGCTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCCTTCACTTATGAAGCTTGGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCACTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACTTTTCCCTCTGGCTGCTGTTAACATTTTTTCCCTTCATTTCAACCTTGGTGAATCTGAAAATTATGTGTCTTGGGGTTGCTCTTTTTGAAGAGTAGCTTTGTGGTGTTCTCTGTATTTCCTGAATTTGAATGTTGGCCTGCCTTGCTAGGTTGGGGAAGTTCTCCTGGATAATATCCTGAAGGGTGTTTTCCAACTTGGTTCCATTCTGCTCATCACTTTCAGGTACACCAATCAAACATAGATTTGGTCTTGTCACATAGTCCCATATTTCTTGGAGGCTTTGTTTGTTTCGTTTTACTGTTTTTTCTCTAATCTTGTCTTCTCACTTCATTTCATTAATTTGATCTTCAAACACTGATATCCTTTCTTCCACTTGATCGAATCGGCTATTGAAGCTTGTGCATGTGTCATGAAGTTCTCATGCTGTGGTTTTCAGCTCCATCAGGTCATTTCAGGTCTTCTCTATACTATTCATTCTAGTTAGCCATTCATCTAACCTTTTTTCAAGGTTCTTAGCTTCCTTGCAATGGGTTCGAACATGCTCCTTTAGCTTGGAGAAGTTTCTTATTGCCGACCTTCTGAAACCTACTTCTGTCAACTCGTCAAAGTCATTCTCCATCCAGTTTTGTTCCATTGCTGGCAAGGAGCTGCGATCCTTTGGAGAAGAAGGGGTGCTCTGGTTTTTGGAATTTTCAGTTTTTCTGCTCTTCTCCTCATCTTTGTGGTTTTATCTACCTTTGGTCTTTGATGTTGGTGACCTACAGATGGGGTTTTGGTGTGGATGTCCCTTTTGTTGATGTTGATGCTATTCCTTTCTGTTTGTTAGTTTTCCTTTTAACAGTAAGGCCCCTCAGCTGCAGGTCTGTTGGAGTTTGCTGGAGGTCCACTCCAGACCCTGTTTGCCTGAGTATCACCAGCAGAGGCTGCAGAACAGCAAACATTGCTGCCTGATCCTTCTTCTTGAAGCTTTGTCCCAGAGGAGCACCCACCTGTATGAGGTGTCTGTTGGCCCCTACTGGGAGATGTCTCCCAGTCAGGCTACACGGGGGTCAGGGACCCACTTGAGGAGGCAGTCTATCCATTCTCAGAGCTTGAACGCCGTGCTGGGAGAACCAGTGCTCTCTTCAGAGGTGTCAGACAGAGATGTTTAAGTCTGCAGAAGTTGTCTGCTGCCTTTTGTTCAGCTATGCCCTGCCCACAGAAGTGGAGTCTATAGAGGCAGTAGGCCTTGCTGAGCTGTGGTGGGCTCCACTCAGTTCGAGCTTCCTGGCCGCTTTGTTTACCTACTCAAGCCTCAGCAGTGGCGGACACCCCTCCCCACCACCAGGCTGTAGCCTCACAGATCGATCACAGACTGCTGTGCTAGCAGTGAGCAAGGCTCCGTGGGTGTGGGTCCCACTGGGCCAGGCACAGGAGGGAATCTCCTGGTCTGCTGATCGCTAAGACCGTTGAAAAGTGCAGTATTTGGGCGGGAGTGTACTGTTTTTCCAGGTACAGTCTGTCACAGCTTCCCTTGGCTAGGAAAGGGAAATCCCCCAACCCCTTGCACTTCCTGGGTGAGGCGACGCCCCACCCTGCTTTGGCTTGCCCTCCGTGGGTTGCACCCACTGTCCAACCAGTCCCAATGAGATGAACCAGGTACCTCAGTTGGAGAAATCACCCATCTTCTGCGTTGATCTCGTTTGGAGCTGCAGACCAGAGCTGTTCTTATTCGGCCATCTTGGAAGCAACTCCTATGTATAAGTCTTAACTAAAATATCAGCATAACAAAGTCTAGCAATAAGTTAAAAATAAATCCTAACAAGTTTAGGCTTCTATTAGGAATGCACAGTTTGTTTAACTTTCAAAAAAGTCCATTAATATAATTCATTCTATTAAAAGATTGAGGCAGAAAAAAATAAATGATCATTCTGGTAGCTGGAGAAAAATCAGTTGATGTTATTTAAAACCCATTTGTAATTGGAAGAAGTTTCACCTAACCTGACATAGGGGTCTCACTTAATGCTGAAACATTAGAAGTTTCTAAACGTAGAATAAAATAAGAATATCAGTGTCATCACTTTTTAAAAATATCTTAGTGACTATATGAATTTCAGTAGTAATACAAGTAAAATAATAAAATGTTTATGAATAAGGAATAAACCTGTTATCATCTTTATAGGCCATATCTGTTTTTTACATAGAAAATCCCTAGAGACTGTCTAGAAAAAATATATCTGATACAAAACAAGATCTATCGAAGTATCAAATGTGTTTCTATATTCTTACAACAGACAGTTAGAAAATGTAATTTCACAAATTTTATTTTCAATATCTGCAGGTGTTGAGTACCAAAAAATAAATTTAAGAAAGAACAACATAAATGTTGAGTTGTATCACGTTTATGCCTGGGAAAACTCAATACCAGATGCCAAATTTTTCCAAAATAAATTGAGTGTGATTAATGTGATTCCAACTAAATTTAATGTGATTCCAACTAAAGTCTTAACAGGGACTTCATGAGACTGTACAAGTAAATTTAAAATTTACAATGATGAGCAAAGGATCAGTAATGAGCAAGAATAGTAAAACAAGACAATTTTAAAGAAAAAGAACCAAGTTGGGGGACTTTCTGTGCCAAATGCAACACTTTCATAATGCTGTAAGGATTAAGATGATGTTTTGCTGGGTCAGGGATAGACATGTAACACAAGGAACAAAAATAGGGAGTCCAGAAACTGGATATCTGCTGTGTTAATCTTCTCCCATGTTACTTATAGCTTTGCTGTAATCCGTCCTATGCCATATCCAGTTGTTATAATATCCCATGTTACATTCAATTTAATATGCCAACTAGTGGCTAAAGAAAAGATTTCTGAGTGGGAGCTAAACACTGGGTACTCATGGACATAAAGATGGCAACAACAGACACTGGAGACTACTGTAGGGGGAAAGGAGAAGGGGGCCAGGATTGAAAAACTACTGGATACTCTGCTCACTGCCTGGGTGATGGAATCAATTATACCCTAAACTTCTGCATCGCATGCGATATACCCATGTGACAAACATGCACATGTATGTCCTGAATCTAAAATAAAAATCAAAATATGAACAGATAGCACGTGCCTGCAGTCCTAGCTGCCAGGAGGCTGAGGAAGGCGGATGGCTTGAGCCCAAGAGTTTGAGGCTCCAGTGAGCCACGATCGCACCACTGCACTCCAGCCTGGGTGACAAAGCATGACCCTGTCTCAAAATAAATAAATAAACAAATAATATAAATAAGTAAATATTTTCTTTTTTTAAAAAAAGGAAATATTCTTGAATGCATTTTTCTGGAAGCCTCCTCCTGGTACCTCAGAATTCTGCTTCCTGGAATCTCTGGCAGGTAGAAATGACCATAAAAGTTTGATTCTACTCAAGACTTTTTTGGTCATGGACTATGACAAGCCACATTGCTGATTGCAGACCCTCAACATTTTAGAATAAAATATAGAACTAAAAAGATTTATGACAGGGTGTGTCTCTCCCTCTGTCTTCTGTTCAGAAAATTTACCCATTCTCAACAGCCTTGCTTTCCCTCTGCAATCTGGGCATTGCTTCCGTCAGTGGTGTCTTCACATGGAATTGGGGAATTGGCAGCTTTTTTTCCCCTTTCTTCAGAGATTTAAAGTAAATGACACCTTAGATCAGATAGATGAGCATCATCCTTCCTCCTCCCTTCCTTTTTGGATAGATTTCATCTTCATCTCTCTTGCCCTTCTCTCTCTCAGTCTTTCAAGGTTGCTGAGAGCTCAGAGGGAATGGGATTGATTTCACATGAGACCTTACTATTTAGGGTCATCCTGAACCCATGCGAAGCATTTTCTTTGCAGCAGGACAGAGTGCCTGGATTTCTTCTTCTTATTGTTATTTTATTATTATTCATCTTTACCTGAATGCAGAGGCTCATTCTGGTGAACACGTGCCCTATTGGGAGTTGGTCTTGCTGGACTTCTTTGATGGCTGGACCCCTGGCTTTTTCTCTCAAGGTTATAAGAGCCGGGCTTCTGGGTCAGATGATGCTTTCTCTGTGGAGGCACAATCACTCTCTTCTTTTCTGGCTCAGTGTTGAGGCCTCCCGTGCTCAGCCGTAGAGGTCAATGCTACAGAGCTGACTGAGGCAGGAGGCAAGGCTGAGCCTAGGATCAGAGGGCTCTTGTTCCAGGGCCAGCAGCTCTGCAGGAATGAGACCAGGCACCATTGTGTGAGGATCCTAGGGGATGTGGAGGAAGGAAAGGTGTGATCTCAGACCCACCCACAGGGTCCACCTGTGCCCCATGGGCTCCCCCTGCCTATACTGCCATTGACGTCTGAAAGCACAGCTTGTAATCCCATAAGGATTGGGCTTCTGAATCCTGCCTGGGGGGCCAAGCAGTGGTTTGCTCCCAAGCCCTCTTTCAGCCTCACTGCTTAGGGCAACATGGTGTAAGCAAACACCATGATCCAGGCAAGCCAGACCTTCCTGGAGCCTCCTTCGTTCTGGCTTATCTCCAAGTGTGTGATCCCACCATGCCCTCCGCCAGGGGCCTGTCCACATCCGTTTCCGTCTTTGGGAGCTCTGGCTATCCTTTAAAGCCTATGCAGACACCTCTCCTCCTCCTACCCCCGCTAAGGACACGTAGCTTGCGTCCTACATGTTTGAGTTACATTTGCCCCAGTCACCCCCTCCGTGGTGAGGGTAGGGCTCAGAGCTCTCCTCACACCAAGAGTGGGCCCCAGTCATTGCTGGCTGGGGGAGGACAAAGGCAGCCAGATAAAGGCAGCTCCTGCAAGGACGGAGAGGCCACAGGCCGGCATCTTCACAAACTGTGGATGTACTGTGTCTTCCAGTAGTCAAAATAAAGAATATATTTGGCCATTTTCAGACTATTTAATACAGAACAGTTTACACACAGAAGAGGAGTGAGGAGGAGAATGAATCCCTGCAGCCCTACCCCTGTTTCCACGGTTATGGGTGTTTGCCAGCACAGGGCTGCCCAGCACTGGTGAGGGGGTCACTGTTGGCTGGCATCTGTCGGGCATCCCCGGGGAAGCTGCGCCGGTGCTGTGGCCACTGAGGTCCTCATAGGGGTTCTGGCCACTCACATTTCCGAGGTTCTTCATTTCCCACCTCAGATCACTGTTTTCAAACTCAGTTTTCAGCAACAGGGCCTTTCTTCAAACTCATCTTATCTCCACCCCTAATGCTCAAAACAGATAAAGTAGTATTAGCACAAATCCATTACAAGAGTTTACTTTTATACTATGTACTTATAAAATCAATTTGCCTATGGGAAAGAAGCGTAAAACTACCATCATGGGTATTAAGATTTGGATTTTGATAACATTTATGTGTTACAATTTCATGTAGCTCAATATTCTGTTTGGATGAAAAACATTCAGAAATCACTGAGTCACAAATCACTGAGTCACAGGTAAGCTGTTGCTAATAGCAACAGTTTTTTTATCTTGTTTTTACCTGTTTGCCTTGTGATCTCAAGAGTCTCTTCAATTAAATTGATCCAAATGCTTGAAAGAAAGGCTTGTAGGAACTTTTTTTTTTTCAGAGTTGAATCACTGATCTAACAGATGCTCAGTCTTGATTATAAATATGAAAATCAGACAGGAAGAAACCCAAGCTTAAAATAAGCAAAACTTTGTTCCCCATAACATGCATCAAACCACACTATTCTTAATTTTTAATTTATTTTTATTTCAAAAATATTTATGTTTTTATTTTATTTTATTAGAGACAGGGTCTCGCTCTGTCTCCTAGGCTGGAGGACAGTGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAACTAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAAACATAAGCTTATGTCACTGCACTGATTAATTTTGTCAGTGTTTTGTTTTTGTAGAGATGGGGTCTTGCTTTGTTGCCCAGTCTGGTCTCAAACTTCTGGCTTCAAATGATCCTCCCCTCTGGGCCTCCCAAAGTGCTAATATTATAGGTGTGGGCCACTGTGCCCAGACTATAGACCATGCTTTCTATGTTGCTGCTACTGAGGGTGATTGATGGGGGAACGCATCCCACGTCTGGTGCGGGTTAGATGCCATGTAATTGGAGGGACAGACTTTAATTTTTTAAAAGCAATGCAAAGCTGAAATCTCATTTGGTGACTCCTTTATAAGAGATTCAAATGCGTGCAAATTCATGGCCAGAGAGGCTTTAGTTTAACTTCCATGCAAAAAGGAGTTAAACAGGACACATAAATTAACACAACGGTAGTCTCTAAGAGTTAAAATTTTGTTAATAGTCATTTGAGTGTGTGACTTTTATTACCATTTTCAAATTCAAAGGAACTAAAATATTGGAGGTAAATATTTCCAGAAACCTTGAGGCGCCTCCATAGGGTCTCAGGGCTCCAGAGAACCTAGCTTGAAGATCATGATACTATCCAGAGTGAGCTTGTGCAGGTCCACATTTTCAGCTATTTTGTGCCCAATCACCATTTATAATGTGACTCATTAACAGTCAGATACAGACTACGGTCAAGCAAAGAATATTTACATCTTGATCCTACCTCCTCCTCTCTCTTTCCCTATGTGTTTTTGGAAGTAAGGGGGGGGGATGTGTCCTTTCATGACAACTTGGCTCTCGCCTTCTCTCCCTCTCTCCTTTCTCTCAGTCTCCCCCTTTTTCCCCCTTATCCCCCTTTCTTCCTTCCCTTAAACTTCATCACGTTTTTGCTTGTTTCATATTCAAATCACGGCTTTCTCATACAATTACTACTTTTTTCCTAGAGTTTCTGGTTGCCTTTTCTTATTATAAGAATGTTTAAAACTGTGTCCTTAATCAAGTCCATGATGTTTTTCAGCTCATTATATCTCCTCTTTCTTGCTCTGAACCCATTTGGTTCTGTCCTCAGTACTTTAACATCTTGCTGGGATTTGGACCCACCTTTTTCTAGGCCTCCTGCTCAAGTCATCCTCTAAATCTCTTTTATCGATCTCCAGGTTTAATCTAAAAGTGTATTCTTTCTCAGGTTTCACTCTCATTGTTCCAAAGCTGACCAAGGAAATATATGTTGGGAACAAGCTCTTCAAGGCTTTAATGTTCTTGAAAACCCCTTTTTTTTTGCCTTCATGCTTGGGTGGTTTTTCTGCTGTGAGAAGTGTCTTCGTGTTATTTCTTAATTTTTTCCCTCCCACTCTCCCTGATGGAGCTTCTGTGAGTGAGGCGAGTTCCCCCAGCCTTGTCCTCTACGCTGTCTTCTTTCTGTGTTACGTTTGATCTCTGTGATTTCTATCAGCCAAACCTCCCACCTACTCATAAAAAGTTATTTCATAAATCATACCTTTAATTTCCATTTTTCTCTCTTTTTTCTAATTGCTATATCCTCTTGAATGTTGTGAGGACATTACTTTTTTAAGAAGTGATTTTTCCTTCTTTTCATTGACTCATTCTTTTTGGATCTTTTTTGGTGTGTATCCTCCACTGTGTGTCGCATGCTGAAGACTGTCCTCCGGTATCTGTGATTCTAAGTTTCCCCTTGAGAAATCTCAGACATGGGAGAGGCTGCCTGAGGCTCTGTAGTCATGGGCAGCTCCTGCAGGGGCCATAGTGGCCAAAATGAGGGGAGCTTTACTCTGGGGTGCTGGTACTTTGACTGGCTGCCTGTGTTTTTTTGAGGTGGTTTATTTTTCTTTACCAGTAGGGCTGTGTTTTAAGGGTACCCAGGGTTGGTTTTAATCAGGCATGGTGAGACACTTAGACACAGAAGTGACTGTCCTGAAGGAAAGCAGTTTTACTCACTGTTCTTAGAAGCAGAAGGACAGGCTAGGCGCGGTGGCTCAGCCTGTAATCCTAGCACTTTGAGAGGCTAAGTGGGGGTGGATCACGAGGCCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATATAACAATTAGCCGGGAGTGGTGGCACGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCCCTGCACTCCAGCCTGGGCAACAGAGCTAGACTCCATTTCAAAAAAAAAGGGAAGCGTAGCACATGCAGGGACACAGGGAGGCACCAGGGCCACGCGGGAGGCCGAGAGAGTGCGGGAAACCTGAGCAAGGGCCGTCCTTCATTGTGGCTTCTGCAGGAAGGAAGGGAGGAGCAGGGCACGCAGGCTTAGGTTTAGGATTAGCTCCTTAGAATAATTGCAGTAGGCCCTGGGGCATAGGGACTCTTCCTGGTTGACTTTTACCTGGTCCTGCAGTGATGAGAGCAGGACTGGTGTCAACCCCAGTGTGACAGCCTGATAAAGGATGTGTTTGGGTGGGGGTATGGGTTCTGGATTGATTGATTTGTGTTTGAAAGGCCAGAGTTGTTTACTATCTCTCCAAGGGGCCTCCAGAGTCAGCAAAGCCCCAGATGTCAACACATCAGAATCCAGAAAATAAAAGACAAGGCTAGTACAGGCTGTTGGTGTAATTGCTGTTGGGGCTGTGTGTGTGTGGGTGTGTGTCCTTTATCCCAGTTGTTAACTCCTGGCTGCAGGAGGCTGGAACAGGGGACGGAGAGGGGCAGTGGTGCATCCGTCTAAAACTCGCACTTACTTCTGTTGTCTTCCCTCACTCTCCTTCTTTTCATCGCTAACTGTGGAGCTGGAAGCCCTCTGGGGTTGTGGTGTCCAGCTCCCTCCTGCACCTGCAGTTCAGTCATTCAAGATATATATGTGGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACATAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGGATGACATGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGATATATATGTGAAGCACAAACCAAGTGTGGGTCCGCTTCAAGAGGCTGGAACTAGAGCTTTGGACACAGCGAGTGAAAACCCTGCCCCATGAGGCTCACAGGGTGGCAGCGTGCCTCACCCACCCTCTGTTCTTCTAGACACCATGAAAATGTCACATCTGCCGATGTCCTCCAGAGTTGTTTACAGGTTTCATTTGGTTAAGAGCTTGGTTTTATATACATTGTGAGAAAAATCACCAGTTCGGTGTGAAAATTGAAATGGGGGTAGACACTGGCCCTTCCAAGCTGTGCCCGGGGAAGACCTCCCAGGCCAGTCCCAGTGGTGCTCTCAGGCAGCGTGTGGGGTTGTGAGGACAGACAGGGGCCCCTCTCAAGGTCTTTGCTGCTCCATCAAAGACAGACCCCAGGGCTTCGGGAAATCCACAGCCTGGTGGCACTGGCTCATGCAGTCCTTTTCCTGTTTCTAGTGCTGATGAGCGCTTTGACGCCACATTCCACACTAACGTGTTGGTGAATTCTTCTGGGCATTGCCAGTACCTGCCTCCAGGTAAGCTGCACCTCCTTTGTCCTCTTCCAGTTAGAAAACTGAAGCGAGTTTGGGTGTCAGTCAGTCTGGCCGGTGCCCCCGTGTGGTGGACCAGCTCTTTGCTTCGCCTTTGCTCACTCCCACCTCTTCCTCTCTCTTCTCTTCTGTGCTTCTGTGTGCTTTCTACCCCCAGAAGTCCATCCTCCTCTTTTGTCTCAATCAAGCCGTCTTTGCCACTATGTCCTTATTTTCTGCCATGTGTGCCTTAAAGCCAATGTACAAATACAGCGAGTCTCCTTTGCCGGGCAGTGGCCACCTCACCTTCCAGCCTGGCAAGCCACCTCTCCAGGCTCTGCTTCTCAGTTCCAGCTTGCCATCCTCCTCCCTGCGGGACTCAGTGTCTTGGCAGGTGCAGCGCTCCAGCTGCCGGGGGTGAGATATGACAGTTCCAGGATCCTGAGTGCGTGCGCTAAAGAGCACACGCAGGTTACAGGCAAGGTCTGGTGGTTTCAAGGGAGAGCTCTCTAGCGGCTGACTTCTTCCCAACAGTGTCTCACCTCCAAGGCTAAGTGCTCCCTGGATTGGTTCTTTCCCACCAGTCCATCTTTTCAGTCGATTCACAGGGCAAGGGAAATGGGTTTATGGCCTAAAGGTGCATGCAGAGTGCGCACTAGCATATTGATAGGAACAGCTGGGGTTTTTGATCTTTTAGAAGATTTTTAATGTGTTTATTCCAGGGTGATCTCCCACACTGCAGCTGTTTAACTTTCTGCTCAGAGGCAACCTGCAATTACCTCCACACCTAACTACCACTCACACATACGACTCACACACACACCACTCACAACCACTCACACACAGCCACTCACACATACCACACACCACTCACCCCTCACACACACCACTCACACACATCACTCACATACCACCCACACGACTCAACACTCACACACCACTCACACAACCACTCACATACCACCCACACGACTCAACACTCACACACCACTCACACAAATATACCACCCACACACCACTCACCACTCCACACATACCACTCACACAAACCACTCAAACCACCAACACACACACACCAGACACACACACACCCCTCACACACACCACTTACACACCACTCTCACACACCATACACACCACTCACACACGACTCACAACCCTCACACACACCACTTACACACATGCAGGCATGCACTCTCAAACCAGATACACTATTCACACCACTCACATACCACACATACTGGCTGTGCCTTCTCGGTTGCTGTCTGAGTGCCTTCCCTGTCAGCAGGTGACAAGCATCTGGGGGCACAGTCAGCCTTTGCTCACCTTAGCATTTATCCCTGAATGAACAAAGGAGCGAGTGAACCTGTCAATGGTAGACACCTCCCAATAATATTGGAAGAGATTGAAGAAGTCCAGCTGTTCAGGCTTCTCGAAGCATCCGCTTTCCTGCTAGCCCTGGCATTTCCTCCTACCAGCAGGACCCTTGCAAACAGGGGTAGTGGGGGGAGCCTTCCATCACTCCCGAGGTCTTTCTCGCCAGGCCTGCGTGTTGCAGCTTCTGTTATGAGGGCTATTTTAGAAAACAGCCTCCGGTAGTCACCAGTGTAGAATATGCTGCTGCAGGTTGTTTGGAAGGCTGAGGCTATTTTCAGCTGCAGGACCAGCACTGCAAGCCTCGAGCTGCCTGAGTGCAGCAGCCCCCTCTGGAGCTCCAGGCCTGTGTCCCCACTGCAGTGGCCCTGGATTCCGGTCAGGACAGGACACGTTGTCTTGTGACCATGAGGGGCTTCCTTACGCTGGCAGGAAAGGCCCAGGGCCGCCTGGATTGGGAAACCCCTGCCTGCTCCCTGGGAGTGTAGAACGAGTCCCAGGATGCTGCCCTGTCTGTAGTTAGAGGGGCATGGATAGGAAAGAATGTTTTGAGTTCAAGCTTTGAAATAGAGACTTGACCATAACATGACTTTCCCCCCCATTTCATGTGTTTATTTTTTAACAGCTTTATTGAGAGAGAATTTACATATCATGCATTTTAAGTACATGATTCAACAACTTTTAGTATATTTACAGACTTATGCAACCATTACCACAGTCTAGTTTTAGAACATTCCCATCACCCCACAAAGATCCCTTTTGCTTGTTTGCAGTTAATTCCCATTCCTACTCCCAGCAACCACTGATCTGCTTTCTGTCTCTAGAAATTCTCTGTCTGTCTCGGGCCATTATTTCGTAGAAATGGGCTCATGAAGTTACAAAGCTTTCCAACTAACTGGCAGACAAGGTGGGTTTTGGGGGGATCCAACTATTAATGGAGGGGGATTGTCTGTGATGATTCCAGATTCCTATAAACATTTCATGTAAGGACGCAAAGCATACTTAAAGGAACTTCAGGGGACAAAATGTGTATCTTTTCCCAACTCGGTTGTGGGGTGGGGTCCTTGTGTGCAAGGCTGTGGAGGCCCTTCCTGCGTGCACTCTTTCTGTAACTCAGTAACAGAAGTTTGCAGAGTGCCAGCCCTGCCCCAGGAACACCTGGACACCGAGTCTGTGCCTGTCTTCTTGTGCCATGCAGCCTTCCTCTGGGCAGGGAAGAGCACATGAGTGTAAATAACTGGAGTGGCCTCTATCTGGTTTCCTCCCCTTGGCCCTCTGGGAAATCCACTTCCAACCTGTCCTAGCCTGGAATAGCTCTTTTCAGCGGAAACTCTTCCTTCAAGCACCATCTCTTCAGCTTAAACCTATCTATCTGTTCTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTAACTTTTTTTCTTACAGACAGATTCTAGGTGTGTTCCCCAGGCTGGAGTGCAGGGGCTCGATCATAGCTCACTTCACTTTAGCCTCAAACTCCTGGGCTCAAGCAATGCTCCTGCCTTAGCCTTCTGAGTAGCTGGGACTACAGGCATGCATCACCTCACCCAGCTAATTTTTTTTATTAGAGATGTCTCACTATGTTGCCCAGTCCGGTCTCAAACTCCTAGTCTCAAGTGACCCTCCCACGTCAATGTCTTAGAGTCACTGGGATTACGGGCATGAGACACTGTGCCCAGCTTGTTCTGTTCTTCATCTAGAATTTAAATTAGTTAAAATTCTAGCTTTAACCAGAATTCTAGATTGTATTTCTCGATAATCATGTGTTCTTCCCATTTTTAACCTAAAGAAAATGCCTACCTCACCCCGCACCAAACAGACACACACACACACACACACACACACACCTTTTAGATTCTATTTCTAACTTCATCATCAGGGTTATCAACTTCTCTGAGATATTTTGCATTCTTTACTTTTATTATTTAGAGTCTGAAGATGCTCATGGTAAATGCAGATTATAGAGCTAACTTTTTGCACAAAAAGCCCACAAAACAGTCTTTGAGAGAGCATGTCAGTGTTACGTTTGGATTTTAAAAGACAGTGAAGCTTAGCTGAGATTCTGTTTTACAGATTTTGCGAATAAATAAAAAGACAGATTCCATTTGCTCTGGACTGTGTTAGCTGCAGTGCGGAGGGCGGAACCGGCTGAAGGAACTGCTGTGTATTTTCAGCACATCTCAGTCAGCTTCCGTTTCAGTCTTCTGTTTCCATCACCCACACAGGCATATTCAAGAGTTCCTGCTACATCGATGTACGCTGGTTTCCCTTTGATGTGCAGCACTGCAAACTGAAGTTTGGGTCCTGGTCTTACGGAGGCTGGTCCTTGGATCTGCAGATGCAGGAGGCAGATATCAGTGGCTATATCCCCAATGGAGAATGGGACCTAGTGGGTAAGCCATGGGACTAACCGCCTGGAAGAAAGCTTTCCTATTCCTGGGCAAGCTTTAAAAGTTTGGGATTTTCCACTGTCCTTTCCGGTGCGAGCATTTATTGAATTTTGCAGTAGTCTCCATAATTTACTGAGAGCTACAGGAGGAGAAACAGAAAACAGTTAGGATATGCCATGCTTTCCAAGAGGAACTGGCAACTGCAGTGAGGATGCATTTAAACAAACCAGTGTGAGGATAGATCTCTCTACGTTATGCAGATCCACTCCATTTCTAAAAGCAAGTTGAACAGCAAATTTCAGTTGATGGGAACCTATATTTGATTATTTTAAAATAGGAAAACAGTGATTACATTTATAACAGTGTAAAATTGGTAATGTATTATTTATAATTATTATAATCATGTGTTTCCAATCCACCAAAAGAATATGTACCAATTTGGCCAACTATCACTAAAATACTCTTAACTCTATAGTAAATCAACAAGGTTTTATTCAAGCTAATTACAACCCCCCCCTTTTTTTTTTTTAGCACTTTGCAAACTTTAGGACTGTGCTTGTGTGTGGTATACACATTGAAATAAACAGGGTAATTTATTGTATTCTAACAATGGCTCCTTCTCTCCTCCTCCCTATGGAGGAATCCCCGGCAAGAGGAGTGAAAGGTTCTATGAGTGCTGCAAAGAGCCCTACCCCGATGTCACCTTCACAGTGACCATGCGCCGCAGGACGCTCTACTATGGCCTCAACCTGCTGATCCCCTGTGTGCTCATCTCCGCCCTCGCCCTGCTGGTGTTCCTGCTTCCTGCAGATTCCGGGGAGAAGATTTCCCTGGGTAAGCGCCCCAGTGTCTGGCGGGAGTCTGAGACTGGAGACCTTCTGCTGAGATCAGCTCTGGAGGGCTCACAGCAGACAGCGCAGGACTCCATCAGGGTTCCTGGGGATTCCCTGGCTCATCCCATGGACCTCCGAGCCCACGGTGGCTCCAGGACACCAGAGGTCCCTGATTCGGGCTCCGTGCTGGACGGCTGTGTAATCCTGAGAATACTGGAGGACCCTCAGAGGATGGGGGATGCACAGGGAGGGGGCCAGCTCCATTCTGCCTTGAGAGGCCTGTGCTTTCTTCCCTCCTGCCACCCCACCTGTTCCTCAATGGCGACTGGTCATCGAGGGAACAATTTAGCTTAGTATCAGCTTGCATTTGTATGTTACAGTACCCAGTGTAATTCTTACGATCACTCCCATACGAAGCTAAGGAAACCAAGATTTTGAATGGTGGAATGAGTTTCCCAATGTCTTAAAGAGTTGCTAAACATCAGATGTAGCATATGGTAGAAATCATTCCCAAACCCATATCTTCTGAGTATGAGGTTCAGAAAGGTTGAATGTTGTATCTAAGGTCACATAGCTAGTTGAGTAGCAAACGTAAGACCTGAAATCAGGTCTCCTGACTGCATATTTTCTTTTTCCTGCTACGTGAAACTACTTCTCAATAATATTTTACAGAGAATATGAGAGATAATTGTGCCAAGTTAAATTTTTCAGTTTGTGTTGATGCTTTTAAAATTCTGGGTCCTAAACTTGTCTCCATAAGAGACTCCTTTGGGACTCTGGTAAGTGGCATGGAATGTCCCCTGGAAAATGCACACGCCCATACATAGGGAAAACGTGCATTCCACGACATTCCCCCCAGCGCCTCCCTTTCTTTTGAGTGTCAGGTTAGGAGCCCTCGTTAGACAGAATTGAGGCCTTCTTGTCTGTTTTTGTCTGAGGAACCGCTGTGTGTTTATGTTTTAGGGATAACAGTCTTACTCTCTCTTACCGTCTTCATGCTGCTCGTGGCTGAGATCATGCCCGCAACATCCGATTCGGTACCATTGATAGGTAAGGCAAGAGTTGGGCTCCTCTCTTAGAGATATGGGGTTAGGGTTAGAGTGTGCCCAGGATTTCCCAGCAGATGAAACTAGAAGAAATAGGGCTGCACTGCCCCCATTTTCTCTGGAAGGTGATGATTTGCTGTAACTATTCAGAGTCACCCAGGCCCAAGTAAGGGGAAGGGGATATTCAGCTTTGAGGTTTGACTTTTATCTCACAGAAATGCCCCCCTTCCCCTCATAATTCTCCTCCTCATGCTTGCTTTGAAGCCAGATATTTCATCGTTAGAGATGCATCATTTTAGCTTAAGATGTTGTTTTCCCACAAAGCCTTTGTTAAAATGGGAGAAGCACACAGTTACTGTGTCCTGAGATAACTCAATGTCTCTGTATAAAAGTTTCTAGGGAAATATGAATGAGAAAAATATATTTTGCACAGGTATAAGGCATGATCCTCTACCCAGGGAGGGACAACAAAAACAAGTCTCCACTCCCACTGGGCAGGGAAGGTTGGAAGGAGGTATACAGACTGTCATTACACCTGCTGGCCCCTGCTGTTTGAGGACCTATGCTGTGTCTACCTGGGGGTGGGCTAGAGGGAGAGCCCTACCTGGATACCCCCAGGCTTTAGGAACCAAGCAGCAAAGGCCCTTCTTTGTGGAACTCCCTGTATGTGCAGTATTTTGGCCAGAGAAACTGTTGGTATGAAAAGCCTTTGTGGGTATCATTTTTCTCTTGGTACCATCCAGACAGGGAAGAACCACCTTTCCACCTGATTCTGACTCCATTCTTTCTACCTTCCAGCACACTGCTTTCAGTAGAGATTTGCAGCCTCCCTTCCGGGGGCAGTTGTCAGGCCTTCTCTCTCTGGACTGATGACCCGCTGGGAAAGGCTTGGTTGGTGCATAGCCCACATCTCGAAGGATGGGATGTTGATGGCCCCAGGGACATCAGCTTTGCTGCCCTCTGTTGATGGAAATTCAGTCTGGGCAATCCTTTGACCCCCATCTCTCCAGAGGTGGTTGGTCTGCTCAGGCTGCCGTGACAAAATACTATGGACTTAGGGGCTTAAATAACTAACAGAAATTTATTTTCTCACAGTTGCACTGCTGAAAGTCCAAGACCAAGGGGCCATTAGGGATGGTTTAACCTGAGACCTCTCCCCCTGGCTTGCAGACAACCACTTTCACAATGCTTTGTCCTCCCCTGGTAGTTCCTCTGTGCACCTGCATCCCTGGTGTCTCTCTGTGTGTCCAAATTTTCTCTTCTTCATTAAAAGAACACCAGTCAGATTGGATTAGGGCTTACCCTGATGACCTAATTGTACTTAATTACCTCCTTAAAGACCCTATCTCCAAGTACAGTCACATTCTAGGGTACTAGGGGTTGGGGCTTCAACATATGAATTCTAGGGGGAAGCATAATTCAGCTCATAAGGGTCACGGTTTGCTCCAGTCTCCTTCCTTTTCTCAGGGGCCCTGATGCTAACTTTAGGTCTCAAACTTCCAGCTCTGGCAGAGCTCCTCCCAGGTACCTCTTGGTCTTTGTAGGAAGGCAGTGAGTTCCTTCCTGGCGTGAGGGCCTGTGAGGGCTAGCTGAATGCTTAGCGCCCTGTACCCTGATGCTTTCCGCTTAGAGTTCAGCCCCTTGAGTGGACAGCCACACCAAAGGTTTAATAATTAGAGCTGCCCACTAAAGAATGCCCCCTCCTTTCTCCTAGACATCTTGGCCTGTGTAATTGCTCATCATTGCACAAATCCTGCAAGGAAGAAGTTCCTATTTTAATGGAGGCTACCGTAACAAATTGCTGTAGTCTGGGGGCCTAAGCAACAGACATTTATTTCTCAGAGTTCTGCAAGGCTGCACGTCCTCGATAAGGGTGGCAGCAGGGCTCTGGTGAGGGGCCACTCCCTGGTTTACAGCTGGCCCTCTTCTCGCTGTGGCCTCACGTGGCAAAAAGAGAGTGAATTAGCTCTTTAGCCTCTTTTTATGAAGGACTCTAATCCCATTCATGAGGGCTGCACCCTCAGGACCTGTTGAAGGCCCCTGAGAAAATCACTCACCATTTCTCTACTTACACAACACTTCTGACACCAAAGCGGGGCGTTTCTCCCACATCGACCAATTCTTGGAAACCAGCTGGGCGTCCTACAGTGAGTTCACTTCAGTCCTGACACCACCTGGAGTTAGCACAGCACTCACAGATTAAGGCTCACAAGACCATTTCTACTTGAGATGCCAGTTAGAAGTTCCGGCTTCCCATGCTTCTGACCAAGTGTCTATAAATCGGGGAGTTCCCAAAAGCACATCTTTGAGTTCAGCCATTTACTAGAGTGACTCACTCTAGTAAACTCAGGGAAACATTTTACTGATATTTATTCATTAATTATAAAGCACAGATGAATAGTCAGATGAAAGAAATGCATAGGGCAAGGTATTTGGGAAGGGGCATGGAACTGCCATGCCCTCTCTGCCCTCCAAACACCTCCCCGTGTTCAGCACTGGGAAGGTCTCCACAGAACTCCATCCTTTTGGGTTTTTATGGAGGCTTCACTACATAGGCATGATTGATTACATCATTGGCCACTGGCGATCCACTCAACCGTCAGTACCTCTTTCCTCCCCAGGGGTCAAGGGTTGGGAGAGGGGACAGAGCTTGAAGGTTCCAACTCTCTAATTACTTGGCTGGTTCCCCTGGCAACCAAACCCCATCCTGAGGGTATCCAGGAACCTCAGCCATAAATCATTTCATTAGCATATAAAAAGACACTGATGACTTCAGAGATTCAAAGGTTTTAGGAGCTGTGTGCCAGGAAATGGGAGGAAGACTAAATACATATTTCTTATTATAAATCACAATCTCATACCTCCCAAAGCCCCACCTCCAGATACCATCCCAGTTAGGACTAGGGTTTTAACCCATGAACTTCGTGGGGACACAAACGTCATCCTTTGTACCACCCCCATTGGAGAGCTGAGGCCCGAAGAGGCTGAGCATCCACTCCAAACTCACAGCCAGTAGCTAGTGGACCAGGATGGAAGCACTCAGATGCTCCATGCTGCCCCTCACCTGGGCCCAGGTGGAAGGACACCCATGACCCATTAGAACCAAAGCTGAGACTGAAGTTCTCGTCCTGAAAAGTCCCTGCCACTGACCCCTTCCTCAGGCTGGACAGCTGGCAGCCAGGTGGTGTGCAGGTTTGCCCTCATTGTGCCCCTGGAGCACAGTAGAGGCCTGCATCATGAACACTGGATGGTTCCCATGCCCTCACATCCAGTATTTACCCACAGGAACAAGCTTATCACCATCCTGCCAGGCGATGCTAGCTCTTATTGACTGACAAGTCGGCCAGAGTGCATGGAAGTGCAATGAAGTGAGGGAAGGTCACTCCGTGGGCGGGAAGTCAGACCACACTGGCTGGTTTTGCCCACCCAGAATGTGGGCTGCAGGCCTGGACACATGGGCATCACTGCACCCTGAGGCCCTGACGGTCAGAGAACCTGATCAGGGTGTGCCTGTCCTGTGACGTGCAGTGCCACAGGATCCCCGGGTCTCACCCTGCATCTGTTCTCTCCACAGCCCAGTACTTCGCCAGCACCATGATCATCGTGGGCCTCTCGGTGGTGGTGACAGTGATCGTGCTGCAGTACCACCACCACGACCCCGACGGGGGCAAGATGCCCAAGTGGGTACGTTCCTCCCACCCCCGATGGAGTCGGAGCCCCCCTGTAAAGGAGGCTCCTCCTAGGGTTTATTTTTAAAATCACACAAAAAATGGGCATTCCTAAAGAAATAGCTTTGGGTTTTTTGTTTGTTTTTTTGAGACGGAGTCTCACTATGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCTGCCACCACACCTGGCCAATTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGATGTCGAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGTTCCCAGCCAGAAATAGCTTTGTTTCTGTATTTCGTCACCTATTGACGTGTCTTTGTGTAGTGTGCAGTCATGGTGCACGTGTTCCCGGATGCCCCGTGGCACTGCTGTCTAATCTAACTGCAGAGTAGAGTAAGGCTCTCAAACTGGCTGCCCTGTGTGTTCTATCAATCAGCACGGTGTTTTGAGAAGCTAGTTTGTTTTTTGATGCATGCCGTGAAGCACTGTGCTGCAGTTGGAAGCAACAGATGAGACAGATGCGTAGCAACATGGTTGAGGCTTCACAACAGAATGAGGAGCAAAGAGTAAGAAACGGAATGAGCTGTGTACAAATATGTACGTTCAGTACATCTAGGGATATCATCCAACCAGAAGTCTATGAAACAAAGACTAATTGTCACCAGTGCAGAAGGGGGAAGGGATAAAAGGAAACGGATGAAAACAGAAAGGATGGCATCCCACAGCCTGTCAGCTTAGCCTGGGCCATACCACTCCTGCCCCAGCTGCTGGCACCGTGCCCGGCCACATCTGCGGATGCTCACCCACCCAGGGATCCTCTCCTGCACGGTGTCCAGAGCTCTGCATCCACCCTTGCCTGGCAGTCAGGAAACCTTGATGAGGGCCTAGGGAGGGCCTGAGCTTCTTCCCCTCTTCATGTGAGCTTTGTAAAGCTTCCCCGTCCTCCTGTCTAGAGAGCCTGGCCTAAGGATTTGGGGAGCTAAAAAGGCCCTCACATTCCAAAAGTTGTCTGTCTTTGGAGAGCACTTGTGTCCCAGTTCAGAAGGGAATCTAGGAATCACCAACAAGCTAAATGCAGCTGTAGGGGGTGAGATGCTGTCAGGCACCCTCCAGGAATAGGGGATTGCTGGGCCTCCTGAAACAGTCATTGTGGAGTTGTTACCTGAATGCTCACTTAGCAAAGACTGCTTCTTAAGAAATGCTTTACAAAATTACTGTTTCTTCTCAGAGTTTCACCCACATGGCCCATTCCCCTTATACACTATTTAGTAAAGACTTACCTGTGAGCCCACCACAGTGGTGTGTGGCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATCATGTGAGCCCAGGAGCTCCAGGCTCCAGTGAGCTATGGTGGTGTCATTGCCCTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTGACTTGTAGCTCATTACACAAGCAGTAATGTGAGCTCAGCCTACATGGTGATGTCTCACACACAGACCACATCACTACATTCCCTGAGGCTTGTTTTGTGAAGGCCCCCCCTTAAAACACTGGGGTACATTTGCACACATTCACCTGTATTTTTGTCTGATTTCCTTATAACGCTGACCCACACTTAAGAAAATGCAAGGCCAGAGGTGAGAGGCCTGAGAGCTGGAGGCTTGTTGGTTTGCTGCTCTTTCTGTCTGTCCATCCATCAGTTTGAAGCAGGTAATACATTTACCTGTTTCTAAAGTCAAAATAAAATTAAAATTATACATAAGGAAATCCTGCTCCCATTCCTTCCCCTTTACCCTGCATCTACCGTCAATACTGATAACCGTTTTAATGAATTCCTTATTTTTCCTTCTAGTATTTATTTATGCAAATACAAAAATCTAAACATTCTCATTTCTTGTAAGTATTTTGACTGATGAGAAGATAAGAGAATTAAGACATTGAGACACAAAACCATTTTTAACGACCTGGAGCACTCTACTGCTCTAGAACAATCTTAATTAAGAACATATGCTAATTATTCACCTCTCAGCATAAAAGCTTATTAAAACCAATTGGCTGCAAATGAAAGATGAAGCTTATGCATTTCTCTCGCTTTATATAGCACACTGCATTTTTCTTTCATTCCATGTGTATGTGAAACACAAACAGCCTCCGAGGGACTTTTATTATGATCTGTTGCTATGAAGAAGATACTGCCGGGTGCAGTGGCATTATGTGACATTTGCACAGCCAGAAACAAAACTGTAGCCTAACAGAAGAGGTCAAGAGCACAGTTTGAGGAGTGCCAAGAGGATAATTTTATCTTTTAAATGCTTTGGCTTTGAAAGTTAATGATTCAGGCCATGGAATTCAAAATGGACTTGGCAGAGTGTATCGTATGAGCTTGAGATGTGCACTGGGGGACGTGTAGACCCTGCCATGGAGGGAGAAGTGCCTGGTGCTGCTCGCTCCCTGTGTGCACTGCTGCCACTGGATGCAGGCACACTCACTGCCCTGCAGCCTCCCAGGAGAGCTGGCTCAGGCTTTCTGGTGCCTTCCCAGAGGGGTGGGGTTGTGCGAGTTTTGAAGAGAATCTTACAGACCCTTTGACAGATGAGACTGGGAAAGGCTAAACATGTGAAGTGACATAACCACTTACTTACTCATTGTACATCGTTGGGCCAGTTTATTAGCCTCTTTGAACCTCAGTTTGTTGGTCTGTAAAGTGAGGGGATTATACTCATTTCACCGGACCCTGAAAGGCCCAAGTGAGATGACTTGTCTCATGAGCCTTGTATGGACGGCCCAACTCACCCAAGGTTTCACCTGGGGCCATATGTCCCTGCTCCTTACTGATCATAAAAAACCCTCCAAGGTCAGCAGACCCAACCTTTCCAGGACACGCAGAGTGCCGCCTGCTTGTAAAGTACAATGGGAAACAAAGGGTTATTTTTATAGCTGCAATGAAACTGGTCTTGTGCTTCCCTGTTCTTGTCCCCAGACCTGTTTGTTGCAGTTATCTTTGATAAGATGTTATAAAAAGATGACCAAGAATGAAAGCTCTGCAGATACGAACTGCACAATTTACTATCTGTATATTTATTTCCTAAAGATAGGAAATAAACCTGTTAGGTTACTGATGGAATTTCCCCAAAATCATAAAACAAAATGTAAATGAAATCAGGATCTGGATAATTTCAGGGAAAAGGCCCACTTTTCATACACTTTACATGGATGGGCTTGCAAGAATGCTTCTTTACCTGGATTGAGGCTTCAGTTGTCTCTCTTCTTTCCATGAGAGGCAAAACCAGGATAAACTCCATGGTGATTTTTCTCCAGCTTCTTTCATGCACTCTAGGACACACTTTAGACCAGAAGTTAGCAAATTATGGCCTAGGTGGCCAAATCCAGTCCACCAAGTGTTTTTGTAAATAAGTTATTTTAGAAAACATGCCCATCCATTTGACGCCTTCAATGTGTGCTACATCAGCAGAAGTGAGTAGTTGCCTGGCCCTTTACAGAAAGTTTGCCAACTTCTGCCTTCAACTTTTCAAAGTACTCTCCCAGACATCATCTTATTCGGTCTTCATTGAAGCCTACTGAGTTAGGTTAGAGGTTCCGAAACTGCCTTGGTTCACAGCACGTTAGTATCTCAGGAAATTTTTCACAGAGCCCCTGGCCAAAAGAAATAATACCCAAGGCTCTCTTTTTAAATAGATCAAAACACTTTAATAAGTATTTATGCCTTAACAATGTAGCACCTATGGGGCACGGCACCGCCTCTCAAATCTTGGGATCAGATTGGAGACCACTAACCTAGTTTCTGTTTCACATGAAGTTCCTTGGTGTTTGCTTTTTATCAGGGTACTTTGAAAAACAGCTTTGCAAAGTGGTCACGTCATCACAAGAGATGTGGTAATCTGATGTTGGAAGCCTGAAGTGCTTCAAGCTTCAAGTTTACCTGGTGTCTCATGGATATCCTGGGATTGCATTTGAAAATGTACAACCTCCCCCAGGCACTCTTTGCGAATTTGCAGTGGCCTTCCAGGGCACCTAACAGGTAGTGTGGGAGCCAGAGTTAGATCTGAAGGTCCCCGGGTTACAGATGAGGAAGGATCAGAGAGGGAAATTGACTTTCCCTCTTTACACAGCTCAGATAGCCTTCCCCTTCCACGAAGCTGTCCTCCCTGAGATTGCAGTGTGCCTGCCCCGGAGAACAATTTAGCTTGTTCCCAGGGTGCATCAGTTTTAGTCTTGCCTCACGTTGAACTCGACTGCTTGTCATACGCAAGCACTGCTTGCCTGCTAAAATCATCTGGGAGGCAGTGGAGGCTGCTACCCCCAGGACCAATGAAGCAGGGCTTGTATTGTAGGATCTTACTGCTGTTGGGATCAGCCCGTGTCCGCCTCAGGGCTGCTCTTAACGTTCTGTTGTCTCCCCAGACCAGAGTCATCCTTCTGAACTGGTGCGCGTGGTTCCTGCGAATGAAGAGGCCCGGGGAGGACAAGGTGCGCCCGGCCTGCCAGCACAAGCAGCGGCGCTGCAGCCTGGCCAGTGTGGAGATGAGCGCCGTGGCGCCGCCGCCCGCCAGCAACGGGAACCTGCTGTACATCGGCTTCCGCGGCCTGGACGGCGTGCACTGTGTCCCGACCCCCGACTCTGGGGTAGTGTGTGGCCGCATGGCCTGCTCCCCCACGCACGATGAGCACCTCCTGCACGGCGGGCAACCCCCCGAGGGGGACCCGGACTTGGCCAAGATCCTGGAGGAGGTCCGCTACATTGCCAACCGCTTCCGCTGCCAGGACGAAAGCGAGGCGGTCTGCAGCGAGTGGAAGTTCGCCGCCTGTGTGGTGGACCGCCTGTGCCTCATGGCCTTCTCGGTCTTCACCATCATCTGCACCATCGGCATCCTGATGTCGGCTCCCAACTTCGTGGAGGCCGTGTCCAAAGACTTTGCGTAACCACGCCTGGTTCTGTACATGTGGAAAACTCACAGATGGGCAAGGCCTTTGGCTTGGCGAGATTTGGGGGTGCTAATCCAGGACAGCATTACACGCCACAACTCCAGTGTTCCCTTCTGGCTGTCAGTCGTGTTGCTTACGGTTTCTTTGTTACTTTAGGTAGTAGAATCTCAGCACTTTGTTTCATATTCTCAGATGGGCTGATAGATATCCTTGGCACATCCGTACCATCGGTCAGCAGGGCCACTGAGTAGTCATTTTGCCCATTAGCCCACTGCCTGGAAAGCCCTTCGGAGAGCTCCCCATGGCTCCTCACCACCGAGACAGTTGGTTTTGCATGTCTGCATGAAGGTCTACCTGAAAATTCAACATTTGCTTTTTGCTTGTGTACAAACCCAGATTGAAGCTAAAATAAACCAGACTCACTAAATCCTTTCCAATAATTGACTGGTGGAAGGAAAACAAAAAACAAAAACTAAAAACCTCTTAGCTTTTCTGCAATTCAACTTTTTATTTTTATTTTTATTTCTATCAAAGACGGTAGAGAGAAACAGCTTGATGCTGTTTCTACATTAAAAAAAAAAAAAAAAGACAGACTGTTGGTCTTACTAAGGATGTTTTTACCAGCCTGCCTGACTTCTGCAAACCTACCCTGTCAAGGAGATCAAAGGGACGCAGGTTTCTGTTTATTCTGAACAAGGGCCAGGCCCCGCGGAGTGTCTTTGGTGGATCCCAGATAACTCCTAGGTGCTGCTCTCAGACACTGAGGAGTTGAGCAAATCTGTTCTATTCTGCAGAACCCACAGGACAAATAAGAGTTCTACTAGAATTAACAGCCCAAAAGAATAGCTACAGCTAAGTGAAGCCACTTACGTGGGCTTTAAAAAAATAATGTGTTAGCTGATTCACATGCACTGGAGTTAATTAGTCTTAGAAATGTGTGCATCCATACAAATGCACAACATAAAGTGAACATATTCCTAGGCCCTTTCTGCCTGTGTCAGGGCCAGGAAGTAGAGGCTGGGAACTCTTCTGGTCCCCAGTATGGCAGGCGCCAGGGAGGGGATGGTGTGGCCCATCCCTTCTCTGGATACCTGGCCAGTGGCAGGCAGCAGGGAGGAGCTGGCCGACCCTCAGTGACTGACAAGCCAGCAATTCTGAGTTCTGGCCTTTGGGAGTCTGCCTGCTCCAAGCCAGTCCACCCCAGCTGCAGCCCCAAAAGCTGGCTCAAAGTCCTTGGGTGGATTCACTGGAGATGGGCAACTTAAAACAAGAGAAACTTTAATTTTTAAACCTAAGTGATGATACAGCTCTTCCCTTAGATTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCCCGAGTAACTGGGAATACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGGGTTTCATCATGTTAGCCAGGATGGTCTCATTCTTATTCTTTAATGAGATCAGAGGGTAATTCACCAAGAAAGACCTCTCCTGTTCCATTGTGTCATCCAACAACTGCTCAGAGCTCAAAATTATAGAAGGCTTCTGAGCCCCTAGAGATTTTTAATTTGCTTCTAATCCCTGAGGTGGGAACATCATGAGGGAAGATTTGATTTTCAGAGTTAAATAAATTGTATGTGCTTTTCCAGCCATCTGGCTCACTCATTTCTGGGTAATGCACATGACTTTGTTTGCACTGGAGGAAGATGGAAGCTTGCGTGTGTGCGGTGTGTGTGTGTGTGTAAGTGTGAGGTACCTTGTGTGTGACAAGAGACCTCACTTACGAGAAAGTTGGTGGATCAGGACATTCCAGCCTCAGGCGGCTTGGAGCAGGATCATTCCTCAGCAGGCATTCCTTCCACATGCTATGGATGAACCATGCACAAGATTTTCGGTTTTTTTTTTTTTTTCTGTTACAGTGTCTTTAGAAACAAGTAGAAGTGTTTTGATATATAAAAGGAATGCTTCATTTCTTATCATTATCCCAAAATTGATCCCTCCCACATTTTTGCTTTAAAAAGAAACCTTTTTGGTTTTGTATTTTATACAGGAACACAAAATGCAAACAAGTTGTGCATATTTTGGACTCTCAAATAACTTCTCTGTCCTTTAATAAAGTAATAATAAGGAATAGATGTGCACATAGTTAGAAAAGTATGAGTGGTTAAAAACAACAGTCTCCCATACTGCCTGTTTTCTCTCTCAGAGGGGACCACTAATGAGCTTCTAAGGGCATTTCTAGAAAGGAAGAAAAGAAGATAAGAGGCCAAAGAAGGAGGGACGGGGGTTATGGAGAGAGACCTTCCCTTTCCAGCACTAACGCTCTGTGAAGGGCGCTGCACCTTGCATTCTTCATGTGGTGTTTTGTCTTAGAGGTCGTCCCATAATAACATATAAAGATCTACCTCATTCCTCCTAGTAGCTGCTTAGCATTCCATTATCTCAGCGGACTATCATTTATTTGAATAGCCTTTTATTGGTGAACATATGGATACTTCCAGTTTTTATTTTTATATACAAATCTATAATTGGCATACTTGTACATACATCTTGACATAGTTTTGTGACTAAAACGGTATAAATTCCAACTTAGAAATGGAATTGCTGGGTTTAAGGCTACATGTATTTAAAATTTTGATAGCTATTGCCAGATTATCTTCTAGAAACTGATCGAAGGATGTAACTCCATCAAGAGTACAATAAAAGGCCCAATTTCTCAGCTTTCTATAATAGCACTGGGTATTTTCAAACTTAATGTTTTTCCCAATATAATTGGTGAAACATGATATTTACGAATATTATTCTGATTTTGGTTTATTTTGTGTATAAAATGGGACATCTTTTAAAATTTTTTTGTAGTTTTAATTTTGATACATTTATATATTTTACCCAGTTCCTAATTGGGTTATTTGGCTTTTTCTTAATTTGCTCATGCACTTTGGGACATTTTTGTCTTATGTCTTTAAAATATTTTTATCATTTGTCTTTCGATGTTATTTATTGATTTCCTTATTTATTGGCATAGAGTTTAAATTTTTATGTTGTCAATTTGTGAGTATTTTTCTTTGTCGATCGTGGGATTTGTTTCCAGTTTTTAAAAGCCTTCCTCATTCTGAGATTATAAATAGACTTACTCGCATTTTCTTCTGAAACTTTATGGTTTTATTGGTTTACCTTCACATCTTCAGACTCCCTGGAATTCATTTGTTGCAGGACATGAGGGAAAAATCCATACTTTTTCCTCGAAATGGTGGTCAGCAGTATCAATAAATATGTAATAATGCATTTCTAAAATACAGTCATAGTGTTTTCCCCAGTTGTTCAAAATGCAGCCTTATTTGTAAACTAAATTTCTTTAAGTGTTTGGTTCTGTTTCTGTTCTATTTATCTCTATGAATGCCTTTCATTTCTAAAGCATTATTCATACTAATATCAGTATTTTCAAGTCAACACTCCCATCAACTCTGAATCTCTCTCTCATATGAATCTTTTTTCAATTAGAGTCACAATGAATTTACAGATTGAGTCTTCCTATTCAAAAGCATGAAATCTTGTGTTTAAGTCTAATTTTATGTAACTTAGTAGTGTTTTATGATTTTGTTCACTAAGGTGCTTTGAATTTATAGTTTATTTCTAGATGTTTTATCATTTGGCTATCATTTTCAATAGAATGATTTATTCCACTTTATTTTCTATTTTATCCCATTGTATAAGAAAGTAGTTGGTTTTTATGTATGAATGTTATAATCAACCACAAATTGTGATTCCTACTTGTTTCTAAGGTATACTTTTGACTTCTCCTTTCCAATGTGTCTCTTATTTCTTTCTTGTATCTAGTTGATTTGAGATCAGTGTTGAGTCACAGTGATTCAGGTGGCATGCTTATCTTGTTCGTGACATCAGTGGGACGTTTTAATGTCTCAGCGTTTAACTTGTATGAAGACATGTATTTTCCTTGCCATAATAAAAAAGTATCTGTGTGTTCTCAAACTATTAAGACTCTCTGGGGAAAATGTAGATGTTAGATTTTTGTCAAAGCCTTCTCAGTGTCCAGAGGGATTATCAGAAGGTCTTTTCCTTTGCTCTAGTAGTATGTTTAATTATATTAATAGAATACTTAAGACCAAATCATTAGTGTATTCCTGAGATGTTCTTTACTTATTAGTATCATGACTTTGGTTATCAATATTTATAATTAAGATTCATCATTCTACATCTTGCTTTTATGTGTTTTTTGTCCAGATTTAACTTTATGCTGACTTAAAGGAAGAAATATTATAAAACAAAAACCTCTATATTCTACAATCATCTATTGGTTTTGGATTATTTTCTGCTTAAGTGTAGAAGAACTAGCTGGGGCTGTCTGGGCCTGCCGTGGTATATTTCTGGATTTTGCTCATCAGGCAAGTTAGGTCCTCGAGCCCTTCTAGAGTCCATTTTAATGACACTTTTAAAAATAAAATTAATTCCATCCACTTTTCAACATAGTTGCGTAGTTTTGTAATATATGCACTTCAGGTGTTTTCTTTCCTCTGTATTTGTGGCTTTTTCTCCTTTTTCCGTTTGTAATTGTGTGCATTTCTCCTTTCTCCCGTGCCTATTGATTTAGCTTGCCATGAGTTTTACCGGTTTATATTTTTAAGACATCGGACCCTTAGACTTTGCAGTCCGAGGACCTGTCTGCAGGGTCTTGGGGGTCCCTGCGTTGACCCAGCCCTCCCAGGTGACAGCAGTGGGCCAGCACAGCAGAAGCCACAGTTGTTGCAGGTGCTTCTCCAGCCAGTGCTGGGCCCAACACACGGTTCAGCCCTTCCTCTGGGCCCTGGGAGCCTGTGGGACAAACTAGTCGGGGCAGCATGGTGGGTTAGATGTAGCTGGTCATTGCACTCACGGGGACCCCAGTGAGTTGGAGAAAAGACTGACAGAAGCTTTAAGCAGAGCCCCCTGGAGGTGTACGCCTCAGGAAGGAACTCTTACATAATTTAACTTTTTCTCATTCCTTCATTTTTTATGTGGTACAAACCCTTCCCAACCTCCCTAGACCTTCCGTCTATCAGTGTTTCTGACCTCACCATGGATAGCTCCTTTTGTAATTACTGTTTACTTCATATGCGTTTGACCTTCTAATGCCATAGCTTGTCCTGAGTTGGGGAAGGGGTCTCAAAGTTATGGCCCCTGGGGATGCGGCCCACAGATTCTATCTTTCTCAAACTCTTTGTGACGAGACGCCCCCTGTGTTTGCACACAGCCCGCTTCGGGAATGCCACCTTTCTGCAGCGCTGCAGTTCCACACTCTTTCTTGTCTTCTCTCCACCGTCACGTGTAACATTTTGCACTGCTTTCTAAATTTCCTTTTTTTCTGCCAATGGCCTTCCTACCATTTCCTCTGCTGCTGTGTTAGAGTTCTGTGTGTTCACCTTTGATAAATACTTCCCATCAACAAATTCTGCAGGTATGTTTTCTAATTTTTAGTTTTCTGCTTTTATCTTTAATATTTTCATTCTATTTTACTTTTTAAAAATTATTGTATATTTTTAAATTTTCGTAAAATATACATAACATAAAATTTATCATTTTAACCAGTTTTAAGTGTACCATTCAGTGTCATTAAATACAGTCACATTGTTGTACAGTCTTCACAACCACATATTCCCAGAACTCTTTTCATCTTCCCAAATTGAAACCCTGTCTCTATCAAACATCAACCACTCTTGTTTTGGTCCTTTTTTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCATTTTATCACCCAGGCTAGAGTGCAGTGGTGCAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCGGCCTCCAGAGTTGCTGGGATTACCAGAGCACACCACCAATCCCAGCTAATTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCTCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCTGGCCTCCTTTTGGTCTTTATAAATTTGGCTAGGTACCTGATACAAGTGGATTCATATAGTATTTGTCCTTTTGTGACTGACTTATTTCACATTACATGAAATAAGATATCCTCAGGATTCAGCCATGATCCTTTTACTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAAGTCTCGCACTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACTACCACTCCCGGTTAATTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGTTGCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACCAGCGTGAGCCACCGCGCCCAGCCAGTTCTCTTCTACTTTTATTTTGTTGTTGTTGTTCTAAGTTATTCAATAGATGCCTAATTCATGTGTTTCCAATTATTCTTATTTAATCAGATAAGTATTTTTGGCTCTGCATTTTATTCTGATCAAAGCTTTAACAGCAGTCCATACGTCTTAATATGCAATGTTTTCATTTGTATTTTCTGGATATTCTATAAGTTGAATTGTTGTACCTTCTTCAAGCTGACTTTTTAAATAAAGGCTAGTGAAGTGAAGCAGCAGTGGAAATGGAAAAGGAGCAAAGAAACCTGTAACTGCTTGTAATCAATTCCTTGTACACCCCACTGCACTCAGACCAGCCCGAACTGAGCTTTGTTGAGTGTTTTAAAATTTCCACATTTTTTAACTTAAAAATTAATTTCTAGTTACATTACCTTATGCTTTAAGCAAAATGCCTTTTGTTCTATTTCTAATATTTATAATGTGCTGAGGTGTTTCTGAGGGGTTTGTATGATCAGTGCCTGTGAATGGGTCCCTCTCTGAGAATGACCTGGGCGGGTCTGTGGGAGTTCCACCCCTGGCTTTGCTCACTGGCCTGGCTGGGGCCACGCTCCCTGTCAGCAGCATTCCTCTTTCAATCATCCTTCCATTTACCACAGGATGTTTAACGATTTACCGGATTTTCATTCTATTTTCAATACTTAACCTTGAATTCACATTTGTCTGCTTTTAAAATCAGCCCCACTGATTTCTTATGCTGAGATGCCTCTCTCGTTCATTCTTACACTCACACAACACCTCCCGTCTCCACATGTGTGGGGAAAAATCCCACCCATTCTCCAGCACCAGCTGGGTGTCCTACCGTTCAGCTCAACTCTGACACTAACTGGAGTTAGAGCCAGCCCCACAGGGGAGGGGCTCAATTCCCAGGACTGCCCTGCTCCAGATGCCAGTTGTAAGTGGTGGGTCTGCAGGTCACCCACAGCTTCTGTCCAACTTGGCTATAAATCGGAGGTTCCCACGCCCCCCTTCTTAGGTCCAGTCATTTGGTGGAACAGCGCAGAGAACCCAGGGCAACACTACTATGTTTATCCACTTATTATAAAGAATACAGCCAAATGGGAGAGAAATACAGGAAAAGATATGGTGGGGGTGGGTATGGAGCTGCCATGGCCTCTCCAGGAGCACCACCACGTGTTCCCCAACCCTGAAGCTCCCGCACCTGTACTTAGGAATTTTTAAGGAGGCTTCATCATGTAGGCATGATTGATTATTGATTCAATCTCCAACTCCTCTTTCCTCCCTAGAGGATGGGGTGTGGGGCTGAAAGTTCCAAGCTTCTAACCATGGCTTGGTCTTTCTGGTGACCAGCCCTCATCTAGGATTCCACCAAGAGTCGTTCATTAGAACAAAAGATGCTCCTATCACCCAGGAAATTCCAAGGGATTGGAAGCTCTGTACCAGGAACCCAGTCAAAGATGCTCCCAACCAATATTAGAACAAAAGATGCTCCCAGTACCCCCATCACTCAGGAAATTACAAGGGTATTAGGAGCTCTGTGTCAGAAACTGGAGACACAGACCAATATGTATTTCTTATTATTTTATACTCAATTTTATGTTTAACCTTTTTGAGGCACTTTGTTTTAGGTTTATTTATCTTGGATCTGCACTTATATTTTTAATACATATTGCTGATATATTTGGTTTAATATTTTTTTCAATATCTGTAATTAATATTTCTTTTGCATTCCCTTTTGGATTTTTTTATTTCCCCCTCCTTCTGATTATGTGCAATCCTTTTGTTAAAATGAAAGATTTATTGCTTTTATGTGTTTAAGTGGTTACCTATATAATTTTACATAATTCAACCTATAGTTCATGATTTATCAACCTGACAGTTTCTATTAATTCTCCACTTCTCACTTCAAACCCCAATATATTATTAGTTATCTTTTTGTTTTTAGGTTTTCTGCAGGTTCCTTATACAACACTCTGTGATATGCTTTAATATTTATCAATTCAGAAGAGTATCTGTTGACTACTATTGAGAGAAAATTGAAAGATGTTTAATAGGATGGGCAATTCATTCATTTTGTGGTAATCTTCCCTTTTACCTAATTTTCATAGTGCAATTATCTTTGTTATTTTTACAAATTCATGAGTTATAACATTTACTTTCTGAAATTAATTTCCTACCATCACATACATGGTATATTTATTTATGCAAAATGAATTTTCCTTCTTTTTCCTCATTTTGGCTTGAATATGCAATGATGTGTTTTATTCCTCTTATTCCCTTTGGAGATCTGAAATTCTTCCTCTATGATGGTAGCTTTGTTATTTTTGGCATTGTCTATTCTGTTTCCTGCTATTTACAGTTCGGGTAGGTTTTTTTTTTTTTCTTCCCGTTCTGAAATGAGTTTTTGCTCTTCAATTTGTTTCCAAAACTCTGCAATTTACCTTTCATTTTGCTTTTCTATCTTTTAGCTCTTTTTTATTGAAATCGATTTCTTACTAACTTCTTACACAACATTTTGGAGAACTTTCTTGCATGGATTCAGTTATATATTTTGCTGCAGAATGAAATCTTTGTCTTTCTTTACAGACCATGGTCCACCCTGTGTTCACTGTTCCCCTGCAGTGCATTTGCAGGAATGCCTTGCCATTTATTTCACTCTTACTTTTGCTTAATTTGGGCAGCTCCATGTGGATCTTTAAATTCCTCTGAAAAAGCAGGTCTCAGCCCCTTTCAGACTCTGTGCTCCCCCTTCTTCCTGCTTTCCTGGCCTGGGGTTCTGAGAGGAAGGCCAGCCCCTAGGATGGACAGCCTGGGCGTTTTTGTCTTTACTTTGTTGCTGTTGATGTTGGTCTGTTGGTGCTCCAATACATCTTAGGCATTACCCTGGAAGGAGATCTATATCATTATTTATTGCTCTAATTCATGAAATTCTGGGTCTTTGGGGTGAGTGAACTCTTATTCAGCTTTCTCAGTTAGCCGCGTACTCCCGGTGAAATTTCCCAACCTCTCTCCTTACACCCTTCAACCTCCAGTCAGGACAGATAAAATGTCCATGGATTTGGCTGTTAGGGCTGGTAGTTGGAGGGCTGGTGGGAGCAGGAATTTGGTTATAGTCACATCCCCTTTCCTTCCTGCCCATAGGGAAGACACCTGAAGACCTCCTGCCTGTGACTTTCCTGCATCTGCTGAGATCCTTGGTGGGAGGCGGGACTTCTGCACTCATGGGCTCTCTTAAAACTTTTTCCCTCCAACTTACAACTTCCCTTCTCAATGAGCCTCACTCGAGACTGGCAGCGTAGGGTGGGGAGAGGGATCCGCTATTTGGGTTGGAGGGACACGCGGGGTGGGTCGCACTGATTCAGAGTCTGTCCTTTGCAGGCCCACACCACCTTCTTCTCTGTGTCCTCCTGGCTGCAGCGCTTTGAAGAGTGTGGCAGGAGGCTCCATCATTCTGTGTTGCTGCTGCTGTTTGCTATTGTTGCTTTTTTGGGCAGCGATATCTCTGATCCTGCCTTCCTCCACTCGCAACGCGTTGATAGTCACTGACCACATATTCAGGGCAATGGGTAACAATGGAGAGAGAGTGTGTTATGTCTCAGCACCAAGGCTGCTGGTAAATTATATTCCCAGTAATTTTAGAAGATTGTGGCAGATGCTTTTCACTTCATGTTGAAGCTATTCATCTTTACATTGAAGGACCTTATGAAGCTACAGAGTTTAATCTTTTTCCAACTATATTTGCCCCCTTTTCTTTCTGTGGTAAATGAAAACGGCCAAGAATTCGCCATTTAGTATCTTTGTATTAATATGAATAGTGTAATTGTTTTTCAAACACATTATTTTAAGCTGTCATTTAAGATAAAGATAGTCTTGGTGAAATCAATATGTCAGGGTTAAAGTGAGTATGTTTTTCTCCTACACATTTTGGTAATTACCATACAGTCACCCCCATCTGTGGCGTTACTTTCTTTTCTTTTTTTTTAGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAAGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGCTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCAGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACATGTCCTGTGGTGTTTCTTTCTGTGGCTTCAGTTATCTGTGGTCAACCACAGTCAGAAAATAGGCGAAGACAATAAGATGTTTTGTGACAGAGACCACATTCACATAACTTTCATTACAGCATATGGTTATGATTGTCCTATTTTATTGCTAGTAAGTGCTGTTAGTTTCTTACTGTGCCTAATTTATACATTAAATTTTATCATAGGTATGTATATATCAGAGAAAAAACATATGTAGGGTTCACTACTACCCAAGGTTTCAAGCATCTACTGTGGGTCTTGGAACATATCCCTGTGGATAAGAAGGCACTACATTACAATATAGACTTCTGTTGTACTTTTCAAACATCATAATGCTCAAGAAATTACCATCCACTTGGAATTAGAATTTGCTGCAGTCCCAGCCATACTTCAGCATGCCCCCTGTGCCCTGGTCAACCTTGTTGGTTCTCTGGCTCCCGTGTGACCATATTAAACCCCCGCCAGCATCCTCATTGCCAAGCCCCAGGTGGTGTCTGGAGAGGGACGTGGGCTTAGTCACTTAAAAACACAGTGCCTCAAATCCTTTGTGGAAAAGACAAGTTCATGCTATTCAATTAGATTCAGAATTTCCAAATATACAGAAGCTCAGAGCTCGTCTATGGCATCAGGTTCCAAGCTTTTTTTTTTTTAAAGGTTAGTTCAAGTACAAAAGATAAGAGTATTTGTTCCAGAGACAGGTCTGGGGGACTTTGGTGTCTGGCCTTAAAGAGAAATTGTGAAGGAGTCATTTTGAAAATGGTGTTGGTGTGTACTGGGGCCTCAGCCAAAGAGACTTGGGCTCAGGAGGCAGTGGGTCAGCCAGGCAGATGGGGGCTCATCCGCGTGTCTGTGACTGGGGGAGACAGGGACCCTGCCATCAGGAGGGAGCAGGAGTGGCAGCAGTGGGGGCCAGCAGTAGGTGTTTGTTCCAGGTTCCCTGAGCTCTCCTGAGATTCTTCCAGACTCCTGGAAATAACTGGGCAGAGGAGAGCCAAAGCCAACTGGCTGAGGTCAACCCACAGCTGCAATTCAGATTCACATGGATGTGATCCCATTGAACTGCAGGCTGAGATTCAGTCCATTCACCTGAGACATGTGAGACCCCGTTGTGGTCTGAATTAAGATTCTTCAAATTTATATGTTGAAGCCCAACCACCGTACCTCAGACTGTGATCTTATTTGGAGAGGGCCTTTAAAGAGGTAATTGAGTTAAAATCAGGCCATGAGGGTGAACCTTAATCCATTCTGACTGGTGTCCTTATAAGAAGATGAGGTTAGGATACAGACACAGTCAGAGGGGTGATCGTCTGAGGCACAGGGAAGACAGCCATCTACAAGCCGAAGAGAGAGGCTGCAGGAGAAGCCAGCCTTGCCCACCTTGATCTTGGACTTCCAGCCTCCAGCACTGTGAGGAAATGCACGTCTGTGTTTAAGCCCCCAGGCTGTGGTTCTTTGTTGTGGCAGCCCCAGCCTCCAAGGCAGGCATCTGTCAGGTGCTGTCCCCTCTGCCAGACACAGGGGGTGCAGTCATGAGAAAGCTTATCTTAGCTGGAAGGAGCTCGTTCTTAGGAAGGGAATTAGGTAAAAAGAGAGTAAGGGCCACACAGGGAGGGATCCCAGCCTTAGACAATCATGGGAGACTTCCTAGAGTTGGTGGCGCCTCAGGTAAAATCAGATGAGGGGATTGAGGCCCACCCCAGCGACTTGCCCAGCCTCACACAAATAGCTGTTTGAACTGAGACTAGGAACTCAACATCCTGAGGCTGCTTTCGTTAACCTCAAACTTACTTTGTCCATTCTTCTTTGTAAATGGCAGGGAATGGAGAATGGCACCCTGTGTTTTGGTGTCTGCAGTGGAAGGGGGTGTAGACCCCTCTGGCTGGCTTGATTCAAAGTATCGGTTCCGTCACTGGTATGTGCTGTCCTCTGTTGCTATGAAAATTTATGGCTAAAACCATCTTGCTTTGAAAGGTTAACTTTTTTTTTTTTTGAATTGGAGTTTGGCTCTTGTTGTCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGCAGCTGGGATTACAGGCATGAGCCACCACACCCAACAACTCTTTAATACCATGATTCCTGGGACACTAGTGGTCCCTAAAACTGCTTTTACTTGGGGCATGGGCAGGGCATGGGCTGAGAAGGAACATCCCCCGGGCCTTGCAGTCACAGTTTCCCATGGGATGTTTTAGCGCGGTTAAGCGCTGTTTAGCGTGTTAAGGCACTGCAGCAAGAATAAGCATGCTGGGTCCTGATTCTGAAAACCTCTCTTTAAGGCACTCAGGCCTTGCGGTTCTGTTTTCTCTACACTCTCTGTGGTGCCTCTAGTACCGTGATTAAAAACAGTGGCCCCACAAACACGACCTCACCTTCAAATCCAACTCTGCCCCCTGCCGACTGACCTCCAGCACACTGCTCACGTTATCCAAACTCGGGTGTCCCCACGTTAAAGGAGTGACTATAGTACTACCTGCCAAGACACTGTCGCAAGGACAGCCCAGAACACAAGACGCACTCGAAAATGTCAGCTAAGTTTATTTTCCGCAGGATCAAACCTCACTCCTCCCACATAGGAGATGCCATCTTCTTGTTTTAAAGGCTTTATGACAAACAGGCATTCCTTTGAAGTTTAACAAATTCCTCCTGCCACCATGACAATGACGTCTAGCAACACATTCTCTGGTGAGAAAAAGGAAAGTTTAGAAAGACATTGTCAGTTGTCTCTTCCTAAGTGATATTTACCAGGACCCAAATACCAAAAAGCACAGCTCAGAAACACAGGGGCTAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCATCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGACAACACAGAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGTGCATCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCGGAGGTTGCTGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACCATGTCTCAAAAAATAAATAAATAAATACAGGGGCTTTGGCAGTGGGTCCAGGAGGCATCTGGTGAGGTCATTAGGGAGGGGTCATTACACATGGAAAGCAGCAGAGACCGTTTACTGAGTACATATTTGTTGAATGCTTTTAGGACATGAGATGAGAAGGGGGAGAAATACTCACGATGTGGAGCTGGAGGTGCGTGGGCAGCCGGTGAACAGTAATGGAACATTGACACAAGCCAGGTGGGACGAGTGTGGTGGGATGGCCTGCGAGAGGGGAGCAGAGGGGACAGGGCTGGGCAAGTACCCAGAGGCAGCCGCCTGGTGCACCTTGAGAGGTATGCATGAGAGGAACACCAGAGAGGGCCAGGGTGGGCAGGGTGGCGGTGGGCAGGAGGAGTGAGGGTGGGAGAAGGCACTGTCTGGGATGGGAGATGGGGGTCTTCGGGATTCCCTAGTGCTTTCCCTAAGAGCAGTAGGGGCGACTGAAGGCTCTGGGCCAGAGAGTGGTATAATTCAGTTGTTTTTAGATTCTGGAAAAAGAACTGGGAGCTACAGCATATTCTTTCCACTTCTGCCCTAAACTTTGTTGAGTCCCATATGCTGGGAGGCTGACCAGGTGTGGCAGTGGGAGCTGGATCTCCCTCCAGTCTTAAGGTGAGATGTAGGATGTGATTTATAGGTCAGATATGAGATGGAAAATGGCAGCCGACAGGACGTGGCTGATGAGGGAATAACCTGCTCAAAGCCTGGGACAGAAGGACTAGGAGGAAGAAATGTTGAAAGAGGGTTTCAAGGCATTTTCCAGGAGAGTATGATCTAAAGCATCTTCTCTATCTCCCCAGGTGAATGTTTGCTAGCGCTGCAGAGCCCCTCAGTCACTCAATCGGTGCAGACGGGTGGCAGAAACCACTGGAGTCATGTGAATGGGGACACTTTCCTATGAACAGTGGTTACACAGGCAAAGGCACCCGCCCCTAAAAGAAGTCAAAGACTTTTTGTCTGGAACCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACAGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCGCAGGACAGTGGGTGCAGTGCGCCGTGCGCGAGCCGAAGCAGGGCGAGGCATTGCCTCACTCAGGAAGCACAAGGGGTCAAGGAGTTCCCTTTCCTAGTCAAAGAAAGGGGTGACAGACAGCACCTGGAATATCGGGTCACTCCCACCCAAATACTGCGCTTTTCCGACGGGCTTAAAAAACGGCGCACCAGGAGATTATATCCTGCACCTGGCTTGGAGGGTCCTACGCCCACAGAGTCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAGTGAGGCTAGGGGAGGGGCGCCCGCCATTGCCCAGGCTCGCTTAGGTAAACAAAGCAGCCAGGAAGCTCCAATTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTGCCTCTGTAGGCTACACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAATGTCCCTGTCTGACAGCTTTGAGGACAGCAGTGGTTCTCCCAGCACACAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCAGACTGACACCTCACACGGCCGGGTACTCCTCTGAGACAAAACTTCCAGAGGAACGATCAGACAGCAGCATTCGCGGTTCACGAAAACCACTGTTCTGCAGACACCGCTGCTGATACCCAGGCAAACAGGGTCTGGAGTGGACCTCTAGCAAACTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAGCTAACAAACAGAAAGGACATCCACACCAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAGCAGAAAAACGGGAAACTCTAAAAAGCAGAGCACCTCTCCTCCTCCAAAGGATCGCAGTTCCTCACCAGCAATGGAACAAAGCTGGACAGAGAATGACTTTGACGAGTTGAGAGAAGAAAGCTTCAGACGATCAAACTACGAGCTACAGGAGGAAATTCAAACCGAAGGCAAAGAAGTTAAAAACTTTGAAAAAAATTTAGACGAATGTATAACTAGAATAACCAATACAGACAAGTGCTTAAAGGAGCAGATGGAGCTGAAAGCCAAGACTCGAGAATTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCAATCAACTGGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAACAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGACGGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACACCACAAAGATACTCCTCGAGAAGAGCACCTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGCGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACTGCAAGCCAGAAGAGAGTGCGGGCCAATATTCAACATTCTCAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAACAACTGTTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCCAGACTAGGAAGAAACTGCATCAACTAACGAGCAAAATAACCAGCTAACATCATAATGAGAGGATCAAATTCACACATAACAATATTAACTTTAAATGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGATCCATCAGTGTGTTGTATTCAGGAAACCCACCTCACATGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAGTGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACACAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTGAGTGACGTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTCCACCAAGCAGACCTAATAGACATCTACAAAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATATTTGGAAGTAAAGCTCTCTTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACAACATACCAGAATCTCTGGGATGCATTCAAAGCAGTATGTACAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAATGGACACCCTAACATCACAATTAAAAGAACTAGATAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAACATTAATGAATCCAGGAGCTGGTTTTTTGAAAGAATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAGCACCTCTACGCAATTAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGAGCTGAAATTGTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGATGAACTGATACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACGGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACACAAATCAATAAATGTAATCCAGCATATAAACAGAACCAAAGACAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAGTTAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGATAACCCCATTGTCTCAGCCAAAAATCTCCTTAAGCTGATAAGCAACTTCAACAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCGCAATTGCTTCAAACAGAATAAAATACCTAGGAATCCACCTTACAAGGGACGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATGAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCCTGGGTAGGAAGAATCAATATCGTGAAAATGGCCACACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAGAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCTGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCTATATGTAGAAAGCTGAAACTAGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGCATTAAAGACTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCACGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCCACAATATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACAGTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACCAGTTCAGCCATTGTGGAAGTCAGTGTGGTGATTCCTCAGAGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACTCGCACACATATGTTTATTGTGGCACTATTCACAATAGCAAAGACTTGGAACCAAGCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCACGTCCTTTGTAGAGACATGGATGAAACTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACTGCGTATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGAAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGTCACGTGTATACATATGTAACTAACCTGCACATTGTCACATGTACCCTAAAACTTAAAGTATAAAAAAAAAAAAAAAAAGAAGTCAAAGAGGGCTATCAGGTGTAACAGGCAACCATGTCAAGTGATTGCCAGCCCTGGGGCAGTGAGGAAAGGGCTGAGATTTTCCATTGTTTGATTTATTTCGAGAGAACCTGTCATTGCTGAAGCATTTTTAATGGCAGATACTTTAGAGCCCTTGTCAGATAATTCCAACATCTGATAGTTGGGTCTTGGCAGCAGCTGATCGTGGTGCTCATGCTGGTGGTGATCTCTGCACTCTTGGAAGGATGGTGAGTTTTCAGTTGTTTGGTGGACGTTCTGCCTGTCATGTTAGGTGACCTGGGTCCCCTGTGACTCTTTTGCTTTAGAAGGCAGTGACCTGTTTAGGTTTGGCACATGGGTCCTGGCCCATCTTGCAGGCTGTGGTTCTACTGGCATCTAATTTCCAGAGTCGCTGCTGTGTTGTTCTCTCCTGCTTGGTTTCTCGGGGGTCCTTGTGGCTCTCAGGATCCCTCCTGATGCAGGCTGAGGGGCAGACGGAGTTTCCCCAGGCTCTGCCCTGAGTGTCTCCCAGTGGGGCCCAAGGCTCAGGCTGTCTGAAGAAGAGGCTTGGATCCCCTGCAGGTGCCCACCAACCAGATATTTCTGGGTGGGGAGGAGGGGCTGTCAGTACACAAGGAGGGGAGCCACCCTGGGGCCACTTATGCGGACAGGGCTTCAGGTCCCTCCTCCGTCAGGTGGCGTCAGGCTGGCCTGGTATTGCCAGAGGGCCCTGTTCCATCAGAGCGGGAGCAAGCCTAGCTGGCTGCCATGGGTGCTAGGCTGGGGTCACCTTCTGTTGGTCTTGGGGCCATAAAGCACCCTGTTGCTGTGCCTTCCTTCTCCCCCTGGGGTCCCAAAACCAGCCCGCCTTCCTCTGAACACCTTTCGGAGTTCTGGTTGCCTCTGAGCCTGGTTTCTGGTTGTGCTTTGAGCAGCAGGGAGGGGCCTGCCCATCTAATTGGGACCAGCAGTGAGAGGGGGTTTCTGTGTCCCTGAGGAGAAGGATGCAGTGTGAGGGGAAGGTGGGCTGTCTGGAAATGCTTGTGGAATGAAGGAAGTGTTCAGGTACTGGAGAGATGCAGGTGCGGCTTGTGGATAGAGGCTGCCTAACTTAGGGAACTACCTCGCTGTAGGTGTGTTTGGGGAAAGTGAGTTTCCTGGATACTGATGGGGACAGACACAATCAGCCTCTTGTGGTCTCCCAGGATTTGGCTCAGTGGCTACAACACATCATTGCACACTTGAATACGGCGAGACCTGAATGCCTTTAGCCCAAGACCCTTTTATTACCTTTCCTTTATGCATCCTATAATTTGAACTATTGTCTCCACCAAATTATTCCTTCCCAGCATTTCTGGAGAAAGAAATGTAATGAAATATTATTCAGTAAAATCCCACAGTAAACAAGAACACACAGTGCTAACTTAGTCCTGGTGTTCATCAGTTATTATTGCTCTAAGAAGACAAAGGTGGCCCCTAATATGCAGGAGCTGGCCCGGTGCCCACAGCTGGGCCTTGGTCTCTCCTGATGAACATAAACAGTTCACTGAACAGGAACGGTCAGGGAAGCCACTTGGTGAGTGTGACGGAATAAGACAAGAACAAGACTGGCCAGGCGCGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTAGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAATTAGTCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCTACTGCACTCCAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAACAAGACCATTATGTCATTAGGTCTGAACACAGACAAGGCAAGAACATGGTTCAAACCATAAAAGTGACTTAATATCCCCCTCTCCCAGCTCATGCTAGTGAGTGCTGCTGCTTTATAGTTAAAAGCCTGCTGCCTGGCTCTGGTCTGCCTTCTTCCAGGTAAGATTAACCCACGCATCGCATAGCATCCCCTTCTTCCAAACACCAACCAAATCTGGAGCAAAGCCCCACTTCCTTGAACGCTCTCCCCAGATCACCCAACATGCCCCAGTTCTGTAATGAGTCCTGGCAAACCCCCTCTGCCTGAGACACCCCACAGTTCCCGCTGGTGTGCCCTGCGTGTAGTCTCTCTCCCTCCAACAAATAGTAAATCCAACTCGTTCAACTATAGGCCTGATCCTGAGGTCTTTGGCTGGAGGACGTTTTCACTTATAGGATTCATAGGCTAATTTCCAGAGCTCTTTTGAAATTGGTAAAATAGTTTACATTTTCCACCTTACCTGGCCACCAGGCTCCTGATGGCATAATGTCAGGATTAAACCTTAGGATTTAAAGTCTATGATTCTGGAACACTCAGGATTTTAACTTTCCAGCTCAGGACATCCTTGCATTTTTTTATGGTGTCTGGTTAAGACTAGCAGTGACTTCATGAAGGTGGAAATCATGCATTCTTCATTCATTAATCTGATGATTTCACTACTGACAAATGAAAATTACCCAGGCCTTTCAACTTCCCTTCCCAGCTCTCCTGCTGTTTGACCAAAAGACACACATTCTACTGATTTTCAATGACTATTTATCTGCATTGAAAGAACATTTTTCAGAAAACAGAAAGAGACATTATAATGGGTATTTACCACTGGTATGTTCATAGAACGGCCCCAAAATTGTTAACTTCACATGCATATTAGCATAAAACAAAATAATAAATAGGTAAAATTTACTTTAAATTTCTGTTTACAGATTTTTAACAAAATGGCACGGAAAGGGGCTTCCAAGCCAGAAAGCCTTGGCACATCAGGTGAGCCTTTGACACACTGCCTGAGCAGCCTACGGGCTGTCCCATCTGGAACTGGTGCTAGAGTTAGGGAAGCTTCAGGAAGAGACCGTGGGATCTACGCAGCTGTTCTGTTTTTCCTTCCTGAGAGTGTGAGGCCGGGAGGAGACATCATCTGAACGTGCACTTCCTTTCTTTCTTTCTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCATAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTTCAGGTGCCCACCACCACGCCCAGCAAATTTTTTGTACTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGTCTCCCAAAGGTGTGAGCCACCACGCCCAGCCTGATTGTGCACTTTCTACAAGTGCAAGACCCGGCCCTCCTGGACTTCATGGTTGTGGTCTGTGCTCTTTGTATATCACAAATTTGAAGGCCTTTAGCCTAAGACCCTTTTATTACCTTTCCTTTATGCATCTTATAATTTGAAATATCATCTCCACCAAATTATTGTGTAATTATATAATTGCCACTTTAACTACTTCACACGTCAATAAATTTAAAAAGCCTTTAAGTGTGTATTTTTGATATGATAAAATTGTGATAGGGTTCTGGAAACTGTGTTCTTCAGATTTGGTGGAGGGGCTTGGGAAAAGGTAGGGCAATAGGTATTTTTTAAAAAGAAAGAAACTAAAAAACTTAAGTTGTTTATTTGAAATTCAAAATTGTCACTGCGTATCCAGTGTTATCTGCCCACCTGAGAGGAGGTAGAGTGGGAAGGTCATCACAAAAGAACCCGAAAAGCTGGGCAGGGGAAAGGGGTGTTCTGCATTAAGGAAGGCTTGCTCTGTAATAGGATCCAAAGTGTGTGATTCCTGACTGCCCTGCAAGTGGCTTGGAGGCTTTGGGCATCTCTCTTGGAAAATAGAAACTTCATGGATGGCTAAAAGAGACATGATAACAGTGTACATGGCAGAAGATCCTCTGCTGATGGGTTCTAGAGAGTCACTGATTCCTTAGGAAGATCTAGTTACAGGCAAGAGCCTTGAATAATCATGAGTCTGGGCCAGTCAAAGGAGGCAAATGCCCCACCTGGGAAAGGTGGCTCTCTCTAATCCAGGTGGTGTTCTGGAAGAAAAGGGAAATAAAAGGCCTGTGTCCTGCTTCTCCACCCGGAGGACTCTGCTCAGCCCTTAGGTCTTCTGAAGGGCTCTCCTGGAAGCCTACTGCAGCTGCAGGCCTGCAGCACCAGTTGCGGATAAGGGAAGATGGAGGTTGACAGAGGGGCCTGCCTCCTCTTACTTTCCCTGCCCTGGCCTGAGTCCTGTGGTTCGTGACTGTGCTGTCTTTAGTGGGAGCTTGCCAAGCCCAGCAGTGTCCTGGTGTGGATGAGAAATTACACACTCATCCTATTCTTAGCTCAGGGGCCTCTGTGCATTGAACTGGTTGCATCAGCTTCATTTTTACTGCAAAACCACCCTTTACAATAGGTCGGAAGTATGATTCTGGCAGACAAAGTGAGGACAAGAGGACAAATGGGGCCAAAAGGAAGCAAGGTTGGGATAGTGGGTGGAGTGACTTCTAGGGATTGGGAGGAAAGTCCCTACCCTTCCCTCCATGGGTCTCCTGACCTGAGCAGGCTCTGGGAGGACAGGGCTGCTCGAGCCACCCTGAGAACCTCCCAGGCTGAGAGGATTCCAGGACGCCCACTCTGGAGATACTGAGACCAGCTCTGGGGAACACGGTGCCAGCTTGAGTGCACCCTGGGCCTGCAGCATGGAGAAGAATTTAGCATCCCAAGCCCCCACCCCTGAGATGCTTCAGGTGGGGCAAAGTGGCTGCAGCAGCCTAAACTTTAGGTTGTCAGAGTGATACGGAGCTGCACAAGGCCAGGCACTGAGTGAGTGCCCTGAAAGTGCTGGTGGGGGAAATATGTGAGTTCAAACTACCCTTGAAATTTCAGATACTTGTCATCTGTAAATTATGAAAACGTGCTCCTTACTTTCTTAGCAATAGTGTTGCTTTTACATATACGTGCATTCCTCTCCTGTGGCTACTGTAAAAGTTACCACGAACTCGGTGGCTTCAAACAGTGGGAATGTATAGTTCTGGTGGTCAGAAGTCTAAACTGAGTCTTATGGGAACAAAACCGAGGTGTCTGCAGGGCAGGGCTGGTTCTAACTGAGGCTCTAGGGAGAATCGCTTCCTTGCCTTTTCAGCTTCCAGAGCCGCCTGCGTCCCGTGGCTCCTGGCCCCTTCCTTGCATCACATCACCTTCCCCCCGACTGTGTCATCACACTGCCTTTCCCTACTGTCATCAAGTCCCCTGTGCCTTTCTCTTATAGGAAAATTTATGATTACATTTAGGGCCCGCCTGGATGGCCCAAGATAATCTCCCCAACTCAAAGTTCTTAATCACATCTGCAGAATCCCTTTTGCCTTCCAAGTCACCATATCACAGGTTCCAGGGACCAGATGGTGGAGGTCCTGGGGGGACACTATTCAGTGGACCACACTGCCCTTTTCTCAGATTGAACTGGTGGCCTTGTCTGTCCCTCTTCCCCGACAGGTAAAGGGATTCAGGGTCTCTGCTCTTCACGACGTCATCCATAGAGAGTCTCTCTCATATACATCTAAGGTGATCTTCAAAATAACCCACGAACCAGGGATCATTTACAAATGGGAAACTGGGAAGAAAACTAACATTTACAGAGTTAAATAATTCAAATTTTAGTTAAACACTGCTATATACAGCCCCATTATTGCTTCATTTGACCCTCCTGCCATCTGGGAAGTATCTGTTTTTACTCCTATTTTGAAAGTAGAAAACCTGAAATAGTGAGGTCATGTAACTGATCTAACACTGCAGGTCTTGGAAATTAGAAAACCTGAAATTAGTGAGGTCATGTAATTGCTCTAAGACAGCAGAGCCAGAAGTAAAGGCACTGAAGTTTAAAGCAGACCTGTGATTTCCACCCCTTAGCTCTTCCCTGTCCCATTTTCCCCTGTCCATCACTCCCTCTGCACAGTCCTGCAATGGTCTGAGAATGGTGGCCAGTGCTGCAGGAGACCCATGGGTGTGCCTTTGGGGTGTGCATTGACAGTTTTCTTTGAATGCTTCTAGAACCACAAAATATCAGGGCAGAAAGGCATCTCAGAGAAAACCTACCCCAAATAACTTCTCAAACTTCAATGCACAGAACTATCTGGCTGCTTATAAAAAAACAAGAGTCTGTAAGCCCCATTCCCAGAAATTTTAATTTAATAGGTCTGCACTTGAGGCCCAGGCAGGTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTGTTTTTTGTTTTTTTTTTTTTGAGATGGAATCTTGCTCCATTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGAAACCTCTGCCTCTAGGTTCAAGTGATTCTCCCACCTCAGCCCCCCGAGTAGCTGGGACTGTACAGGTGCATGCTACCATACCCGGCTAACTTTTTGTATTTTTAATACAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCTCCCAAAGTGCTGGGATTACAGGTATGAGTTATCCGCCTGGCGCATCTACATTTTTAACATGCCCCAAAGCTAGTTTTGAAACAATTTAACAGGAAAGAAAGGGTGAGAGGGGTGCATTTGTCCTTTCTCACACTGCTGTAAACATATTACCTGAGACTGGGTAATTTATAAACGAAAGGGGTTTAATTGACTCACCGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATTATGCAGAAGGCAAAGGGGAAGTAAGCACCTTCTTCACAAGGCAGCAAGAGAGAGAGAGCACAGGGGAAACTGCCATTTTTAAAATCAGATCTCATGAGAACTCACTCACTATCACAAGAACAGCATTGGAAGTGATCCAATCACCTCCCTCCCTCGACACGTGGGGATTACGATTTGAGATGAGATTTGGGTGAGGACACAGAGTCAAACCATATCAAGGGGTAATACATTTTCTCTAGAATGTAGCATTAGCCTTTCTTTTTGAGGAACATGTTTGTGTGTTATGGAAGTTAATCACGGTGGGCCACATCATTGGAAAACAGCAAATACTGCTTTCTGGTTTTTGGCCGATTAGGTCAGGTGAAGAAGTTTGGCAATCTGGCTCTGATTTGTGTGAGAGATACCAGTGAAAGGTGGATTTCACATTGTGAGATGAAACATCTGGAGAGGACTAGAGTCTAACTTGTGCATCAGCTGGAAAGAAAGACTGAGGGGTCATGGGAACTTGCACATTACGATCCATGTAACTGCACTTGCCAGAATGTAGGATCAATCTGCTGCTGAAGAATATCCTAAATCAGAGAGTAGATAGGAACCAGAGGCCGTAAACTCACCAGAGATGTTAGTGCGGCCTTGAGGTTAACTGCTGCTTGGAACACAGAGACGTGATGCACTGAAACTAAATCTGGGCTGAGGGAAAGCATGTCCACACCAGGTGCCCAGACATCTGGTTGGCTTTGGCTGATTTGTCCTGCAGGCACCTGCCTTGTCTGGATTTGCACACTTTCCAAGTTGCCCATTACCCTGTGCATTTCCCAAGCTGCCTTCCCTGGCTCTGATGTACGATGAACCTGCTTGAGTGGCATATTTATCATAGTGCAATCAAGAGGCATGAGCCATGATTGATGACATATCATAAATGGGAATATGCATATCATCACACTGGGATCTGACTTAGCAGTTCATTTGGCCTTACTATAAGCTGATTTCTTGAAAGAGCTCAGATTCCTGGCTCAGAATGCCTTTGATAGAAGAGTGTGTTCTCAATGGAAGGGAAGCAATAGTTATAATTTTTTCTCAGTGGACCAGTTCTCAAGTGAAGGCAGAATTTTAACCAGTGTTCAGCGTCTTCCATTAAAATCCCCAGCTCTCCATTTTTCAGTGTGAAAAAATCCAGGCCAGGGTTTCTGCAGACAGTAATTTTTGATGGCAGGGTCAGCAAATTGGACTAAGTGTATGTACTGTGATCTCCATAAAAGGGAATTACTGAATTTTCTGTCCACTTAGCAGCGTCTTTTGTTAATGATGGGCAAGAAGCTTGTATTATTTATGGAGCACTTTGACATCTCAGCAGTTTATGGAGTATATATGAAGAATGGGAGCACTTTATCTTCTAATAAAATGTTGCATAACAACTTTAGTACTGAACTTTTTTAAAGAAGGAATCATGGATTATCCTGCAGCCAAGTATTAACAGAAAGGACATACTGTGATCTCACATTCAAACTACTTCAAAGATAAGGAGATTTATTTTGCCCATTACAATTTTCTCCCAGAGCAAATAACCATTTTTATTAAAATGCTGTAAGTTCATCCAGGTAGGATTTGGGTGAAGATAATTTGGGACAAGCCACTGTGTACTGGTAATGAAAACAGAAATGAATTCAAGCTTCTAATGGAAAAGTGACAAGCAAATAAATTAATCTCCAGGTTATTCAATTTTAGAAAGTGATATAAGATGTAAGATATAACTAAAAACTGAAAAGGAAAGTTAAAACAGTCTCCAGGTTTCCATATGGATGATTTGTAATTAAAATGATACTGGAGGGGAGTCCAGGACACATCTGAATATCGAGCTTTGCCCACAACCTTTCTGATTGCTGTTTCTTAGGTGTTTACTGCAGTGCTTCTTTCTCCATTTCTGCATAAGTGTGGACAAAATTCACATGTGCCTATTACTAGTATAAAGGGCACACACGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGAGGGGGGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCCCGGCATGGTGGCAGGCGCCTGTAGTCCTAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCCATCGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAATATAAATAAATAAAATAAAATAATAAAGGGCACACACTGTGCTTGCTGCCTGAGACTGGCCAAGGGGTCTCTTAGTTTTGTCTGTTACTTAAATTATCAACTCCACCTAACTACAGGAAACACAGAAATGGTGTGTTGCAGTCCGGACACTGTGAGCAGCATGAAATTCTATCTCGGTGTCTAGGAAATGGGGTAGGGAAGGGCCAGTCCAGGGCACAGGTAAGAATAGACTTTTGCCTCTGAGCTCTCCCACCTTTCTCTTTCTCCTTATGAGTTGCTCTTTACCCTAGGATTTCCAGACACTCATGCTATTCTTTAGTCCTAAAAATTCCTCCTCAAAGTCTTGCTTTTCTCAAAATGCCTTATGCCCCATAGTTACCATGTGAGCTTCCTCCCACGTCCTTGGTCCCGCTTCCCTCCTGTGGGCAGCTTAGTCAGTGTGCCCTTCCCTCCACACGCCCAGAGGGCTGGCTCCTGCAGGCAGCACCTTTGCAATGGCCTCCAAAACAGACTTGAGACAAGCGCATAAAAGGGAGGAGGAAGCAGCGCTCCTGTAGGTCTCCTGGCTCTTGCTCCAGCAGGATGGCACAGGAAGACACATGAGGTCTTTTTTCTTAACTCAGATGTTCAGATCAGAACTCTTGTCTGGAGCCAATGAGCTGAGCCCCTGGGGAGCCAGGACTGATCCTGGTTTTAAGGCAGTTAATGTTCCCTATTCTTGCCTCCAGGTGTTTTTGAAATCCTCCCTACCCAGATAGGCACAAAAATAGATGATGTGTCTGGCTGCAAAGAAAAGCTATGCACATTCCTAAAAGCAAAAATGATACAAGCCATATTTCCTTCCATAAAACAAATAAACTAAAAATAAAGAATGAAAGGATAGCAAAAAAGAAAATAATTTATCAATAGATGCAGTTTTCAACAGATTACATAGAAATAGCAACAGAGAGAATCAGTGAGGTAGACATTAGCACTGAGAAATCACTCAGATTACAGCAGATATATAAAAAATGGCGACTGGGAATGATCATTTAGGAGGAATTAATGATAGAATGCACAATCTGTAAGAGTTCTAGGAGAGAAAGAATGGAGAGGAGGTATTTGGAGCTAACAGCTGAAAATTTTCCATAATTGAAAAATGTAATCAAATCAAAGAAAAAACAACCTAAAGAAAGTAGAAGCAATATAATAAGATTTAAACAAAATGATTTAGCAGCTAAAATTCACAGATTTCATCACTAAAATAAAAAGACAGTTCTTTGCAATGAAAAGAGCATTTAAAAATATTTTGTAATATAATATAAATACAAATATAATTTTAAAAGCAAGCTGGTATAAATATATAAATATATTTAAAATATAAGATATTAAATTAATATATTTCAATGTCTAGATTAAATGGACAGTTTTTGAGAACACTATAAATTATCATTTTTAACTTAATAAGAAACAAAATTCAAACAGTCAAAAGCATCTAAACCAAATTTAAAAGATAATAAAAAGAAAAAAATCTATCCATAATAATGAAACCAAGTTCAGGGATTTTCTTGAGTTAATAAATTTTATGAAACTTTAGCTCATAGATTAGATTATCCCTGTGTGATACAGACTTTGCTGTAGCATCAAACAATATGGGAAGGCTGCTACCTTATTCTGTGAGGCTAGTATAAAACTAACACCACAACTAGACAAAGCTGACACAAAACTAAATGAGATCAGCCAATCTCACTAACACAGAGAGCTGCAGAAATTAAACCCCAAAAAATCTTAGCGAATTTCACAGAATAATGATTTTTAAAAATGTGTGTGTCTTGTAAAATCAAGACTTAGATATGCAAACATGATTCAATAGTTTCAAAATCTATTAATTCAATTCTGTATGTCTTCAGATTAAAAGAGGAAAACAAGATCATCTCAATCAATATCAAGAAAGCATTTGCTAAAACCAACATCCTGATTACATTTCTGATAAAAATGTAAACAAAGCAAAACAGTGAAGTTAGAAATAAAAGAAAACTTTCTTAATTTTGTATAAGAGAGATCTAGAAAACTGGAGCAAACATAATAGCTAATGGCAAAATATCATAAATATTCATGTTAAAATTATACACAAGAAAAGGACACCTACTAGCACCACTTTTATGCAAACAGTGAATAAGAAATCTTAGCAGTAAATACAGAAACATTGTACAGACAGCATGAAGAAAAGACAAAACTGCCATTTTAAAAAGTTTTATCTGATAATCTACCCCAAAATTTCACAGAATTAACTGATAAACTATATTAACTAGTAAGGTGGTCTGATATAAAATAAACATTTAAAAATACTTACTAACAATAACCAATTAGAAAACATGATAGAAAGAAACAAATGCCATTACCAATTGTTTAAATGCACACAAAACCCCAAAGAAGAACTTTTATTATCTAAATGGAACCTCTTCTAGCATTACAGAGACCCCAATATCTAACAACTCCCTTAGCAACGTGACGTTCCAGGTGGTTCCAGGCAGGTGTGGAGGCTCTGGGTGCACAGGTGAGCAGCGACTCTGCCATCTTTTATACCCTGCTTCCAAGGCTATCATGGAGTTGCAATCCTGGTTAGCCAGAGAGGAGGAAAGCATGGAAGAGTGTGTATGTAAGGTTGTTATGGGGTGGCCTGGAAGTGGCATTCATGTATTTCAGGGCTCATCTGTGGCATCACACCTTCTTAAGGTCACTGGTTTGATACTGATTAGGGTAGAATCAGCTGTAGTAACAGACTCAAACGTGTAACAACTCCATCCAAGAGCAGTTCATGTTTCACTCATCCAAAAGCCCAGGGCAGCAGTCCAGAGGGGGAGGTTGGGACTCTGCTCCACTGCATCATTCAGGGACACAGGGGTTCTGTCACCTTCCACAGGTTTCTCCCAAGATCACCCTGGGAGTTGTCATCCAAGGCAGGAAGGAAAGAGAGCTTAGAGAAAGTGTGGGATGGTTTTAAGGTCCTGGCTTGGAAGTAACATCCATCACTTCTGCTCAAATTCCACTAACTACAACCTCAGTCATATGACCCCAACTAATTGCAAGGGAAGCTGGGAAGGGAATCTAACTGCTTGCACAAAGAAAAGGGTTGATTAAATTTTGAAGAGTTGCCAGCAAATTCTACCATAAACCTGACAAAGAGTATACAAGTCTGATGTGAATAAAATTGTAAACTTTGTTGAAGAATGTTAAAAAAAAAAAAATAAGAGGAGACATACCCTATACCTACACTGAAAGATACAGTCATGGAAAATGTAAATTATCTCCAGGTTAATCTATACATCTCATGAAAAACTGGATCCCTTCCTTACCCCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAATGTCAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCGAAAGAAAGTACCGTCAGAGCGAATACGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTCCTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAAAAAAAAACAAACAAACCACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGGTACCATCTCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGGCTGGAGAGGCTGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACCAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGAGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAATCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTACGCAGCCATAAAAAATGATGATTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACTATCATTCTCAGCAAACTATTACAAGGACAAAAAACCAAACACCACATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTAGGGGTAGGGGGGAGGGATAGCATTTGGAGGTATACCTAATGTTAAATGACGAGTTACTGGGTGCAGCACACCAACATGGCACATGTATACATGTGTAACTAACCTGCACATTGTACACATGTACCCTAAAACGTAAAGTATAATAAAAAATAAAAATAATAATAAACCCCCCCAAAAAAAGAAAATTTTCAATTTAACTGAAAGTTTTATGAACTTGATAAAAGGTTTTTAAAATTCATATGGCAGATGTTTTAGTCAGTTTTGTGCTGCTATAACTGAATATCTGAGACTAGGTAATTAATGCAGAACAGAAATTTATCTCTGACCGTTCTACAGCCTAAGTCCAACTGAGGTGCTGGCTGGCTTAACTATCGGGTAACGGCTATTCTCTGCTTCCAAGGTGGTGCCTTGGATGCTGCATCTTCCAGAAGGGACAAATGCTGTGTCCTCACATAGCAGAAGAAAAGTGTATTATTAGTCCGTTTTCATGCTGCTGACAAAGGCATATCCGAGACTGGGCAATTTACAAAAGAAAGGGGGTTATTCGACTTACAGTTTCACATGGCTGGGGAGGCCTCACAATTACAGCAGAAAGTGAAATGCATGTCTCACATGGCAGCAGACAAGAGAAGAGAGCTTTTGCAGGGAGACTCCCATTTTTAAAACCATCAGATCTCGTGAGACTTATTCACTATCACGAGAACAGCACGGAAAAGATCTGCCTCCATGAGTCAATTACCTCCACCGGTTCCCTTTCACAATATATGGGAATTCGAGATGAGATTCAGGTGGGGACACAGCCAAACCATATCAGGAAGGAAGGGTGAAATGGGGCCAGACTTTCTCCTTCAAGCCCTTTTATAATGATATCAATTTGAAGAAACCTAAACATCTCTCAAAATGCCCCATGTCCCAACACTGTTGTATTGGGCATTACGTTTACAACATATGAATTTTGGGGGACATATTCAGACCACAGCAGTGGAGAATGTCTAATTCATTTTTACAAAGAGAACGATAAGATGGCAAATTTACTTGTATTTCATTCCATTTTGTGTTCCCATAAAGGAATACCTAGGGCTGGGTAATTTATAAAGAAAAGCAGTTTCTTTGGCTCATGGTTCTGTAGGCTGTACAAGAAGCATGGTGTCAGCATTTGCTTCTGGTGAGGGCTTCAGGCTGCTTCCACCACCAGTGGAAGGTGAAGGGGAGCAGGTTTATGTTGTGGTGAGAGAGAGAGCGAGAGAGGGTGAGAGAGAGAGCGAGAGAGAGGGTGAGAGAGAGGGCGAGAGAGAGGGTGAGAGAGGGAAGGGGAGCTCAGGCTCTTTTAATCAACCAACTCTCTCATGAACTATTAGAAAAAGATCTCACTCACTGCCAAGCAGATATCACCAAGCCATTTACGAGGGATCTGCCCTCGTGACCCAAGCACCTTCCACTAGCCTCCACCTCCAACGCTGGAGATCAAATTCAGCGTGAGATCTGGAGGGGACAAATATCCAACTATACCAGCTTTTTCTTATCACTATTGATCTGTTGTATTTAAAACATTGTAGTATTGTACCAAAGTAGAAAAATAAAACAGATAAACAGGCTCGAGGTTTTAGAAATATATCCTTAATATTACTCATCCTTAAAAAAGGAAGGAAATCCTGTCACGTGCTACAACATGGATGAATCTTGAAGCCACTAGGCTAAGTGAAAGAGCTGGTCATAAAAAGAATGCTGCATGATTTTACTTATATGAGATACATAGAGTAGTCAAATTCATGGAGACAGAAAGTACACTGGCAGTTTCCAGGCTTTCCAGGATTTTCACCCTTTTGAGGGTGAAATGATGAGTTATTTTTTAATGGGTACATGTTCAGTTTTGCAAATTAAAGAATTTCTAGAGATAGATGGTGGTCACGATTGCACAACAATGTGAATGTACTTAATACTACTAAACGGTACATTAAAAACAATTAAGATGTAAATTTTTATGTGTTTTTGCTATAAAATTTTTAAAACTCTTTAAAAATTAATATACTCTTCTGTTAATGAGATAGTAGCTTATGACAAAGATAATGGTGTTTAAAGTCAATAGTAAATGAATAGCTCATTCAATAAATAATTTGGAGATAATTAGATATCTATAGGAAAAATTTTTTCTTACATTATAAAAAATGTTCAGATATAAAATGGTACTGTAAACTTATTAGGAGAAAACATTATAGAGTGTTTTCATAATAGTGCAATGGTATAAATGCCAGATAAAAGTTAAGATTGTAAATTTAGTAAAAGAAAATATACGGAGTGGTTTCATTATATTGAAGTGAAGTACAAGTATTTCTAGGCAATGTGCAAAAATCAAAAGTCCTACATAAATCTAATGAAACGTTTGTCTTCATAAAAACCTAAAATCTTCTTTAGTGAAAAAGCAAAACACTGTAAAGTCAATGGGCAAGTGGTAGATTGGTAGATAATATTTGTAACATATTTAATCAATACGGATGAATATCAAGAATATATAAAGAGATCCTAAAATTGATAAGAAAGAAAAACATTTTAATAGAAAAATTTAGACCATGAACATACTCTCTCGGAAGAGTCAAACATAGTAAGCATATGAAAATGTGTTAAACTTACTCAAAAATCAAGAAATAGTATGTTACAACCATGAGACTTTTTCCTCATCTATTAGGCTGGGATTAATTTAGAAGAGGCAGGGTAATCAATGTTCTCATTCATCATTGGTGGGAGTGCAAATGTGTAGCCTTTCAGAAAAAGTGGCAGTAATTCTCAAAATTTAAATATGTACATATTTTGATTCATAAACTTTACAGCAGGAATCTATCTTAAATATGATGCCCAAGTGTGAAAAGGCATATATACATAAAAATGTTCATTTCAGCATTGTTGATTTAAGGAGAGATTGGGAAGTTAGATATTCATCGACAGGGGAATGAATAAATAAGTTTTGCTATAACCATACTGCAGAATACTCTGCAGCCATTAAAAAGAATAAGTTTGGCTTATAGGTACTAACCTTGGAGGATCCCTAAGACATGCAGTTTAACAAAACAATGCATATAGAACGATCAATTGTGTAATTGTATAGTAACGTAATGGAAAAGATTCATGCTGTATTGGTTGGGTATGGCCACAATTCTGTTGTGTAACAAACTCACTGGTCTTGAGGAAAATAACTTACTCGTATGAATCTCTGGGTCATGGAGCAGCTCTACCCTGACACTGAAGCAGTGCTCTGGTCTGCTGCACCTGATTCTCAACCTCCTGAGTCAGCAGGCTGGCCAGGATATGTACTTCTCACAGCGGTGGCAGAGGCGCAAGGGCCTGGACAGAAACATTTCAGACCTCTTAAAGTCTTGAAAGGAAGAAAGAAATATTTTTCCATTGCATTTAAGCAGTAGTGCATTTTAGCTAATTTCTACAATTACCATTGATGTAGTAGATGGAGAAATCTATTAAGTCCTTAAATTCTAATAACCTTGATGCCACAAGCCACATTAACAATATTAAGATTACTCCTTTGAAATGAACAAGTTAACCAGCTTTGCCCTTGTAGAGCTCACAAAGACCACAGATTTTATCCAGCCAATACCACTCAGTCAAAGCATTGGAGTTTTAAACGTAGACAGGTTCCCAACACAGCCACAGTCCAGCAGGTGAGGGGTTTGCTGGCTCTCTGGGACACTTCCAGGACAGATGTGTACTGTCCTACAAAACAGCTCATGCAATTCAAAGAAATCGAGATGGAGCTGATGTCAAAAGCACACTAAGTACTTAATAATGAGTTCGTATGGTTGTATAGTTAATAATTACTGTTAGGAAATCTACAATGGCTAAAATACACCCTTACATTTATCCAGTAAGTAGTGTTTAGATACCTATCTTTTTGAAGTCTAAAAATAAGTATGAACGCTAATATCATTTGGGCTCCTTCTTCAAAGCTGTTTCCCCTTGACTCTTTTATGAGTAAAAAAATATGCATAAAGTACAGAAAATGTGAGCCGTTTATGAACATCTGATGTGAGATGTTAGGGTTGACTTGGTATGTCCTTTGTCTTGAATGCAATGCTGAGTGGGAAACGGGATTCCTATAACCCAAGGCGTGCAGTGGTATTATGATTCAATTATCACCTCAGTTGCAGGGGAAGAAAGGCCTATTGCAGCAAGTACCTTGGGTGCTGTATCTGACCTTCACGGTGGTGGTGACAGCAAGGCTTGCGTCATGTTCAGAGAATCAGACAGCTTCTCCAGTGACACTAAAACCAAAACAAAACATCTTTGTTTTACTTACAAGCAGCAAGGCAGATAGAGCTGTATAAAATAGATGCAGAATTTAATGGAGTAGGTACAAAATTACAGCGTAAGTTCAATCCTCAGACTCGCCAATACATTTGTGTAAAAGTTAGGCTTTGATTGTAGCAGGGGGCTCTCCAAGACTTGGAATTGGGTTATCTGTGTGGATTCAAGAAAAGCTGGGAAATTTACACCCCAAGTCTCTCTAAGCCATCCTTGCTGAAGGAAGCAGCCTCCTCTCCCTGCCTGTAGAATCTTCCCTTATTTGAAGACCTTTTAATAACTTCACATGCTTGAGCTCCCTGGTAAGGTGATATCTAAAACTCTCAGGGCTCACTCCCATCACCCATTAGTGCATGAGACCCATAATTAGGGTCACAAATGTCAAGTATGTTCCACAGGGAGAAAAGCAAAGTCCAATCCAGAAGGACATGGTTTATAGGAGAGAGAGAAAAAAAAGAGAGAGGGAAGAAAAATGATAAAAAGGGCAATACTCACCAATTCAAAGTACCAGAAACATGGGTAAATGTAGTGCATGAATCCTAAGAACATTACACCACAGAGCACAGAATTCAACACTGAATAAGGCTGACCCCATCCATGTGAGAGCACTTACAGAGATTCTAGCTGAATGTGCTGATTTGGGCACCATGGAGCAGCTCTCACAGTTTGCATGGATGGTGGAGTGAATTTGAACTTAATGATGGCTCACATCTGAAGAGGCCAGACTCTCCTGCTCTCTGTGATGGACTTGTTCAGGGAAATGTCTGCATCCCAGAGAACATCTTCTTCCACCATACCCAGGACACCATCTTGGTTGAATCTGGTGAGCAAGCACAGCAAGAACCCTAAATGTCTTAATGAGACACATGTGTGGCAAAGAGTGAACAATAAACCCCATGAAATCTCGAGGCCCATGCCTTGGGGAGGTTTCTCATGGCCCTGTGGTCTGAAGCATGTTTGGGCATTTCTTCCAAAGTGAAACAGAAGTTGTTATTTCATCTATTACCTACCCCTAAAAAATGGGCACGGTGTTGAGAAAATGTCTTTGGAGGCAACAAATACCACATTTGAGAGTGCTGTCCCAACCCATTTATTGAGTAACCAACAAAGCTCCAAGGTAAGTGACTGGGGCCATATGGACACACATAAAAGTATAATTGAAGGCCAGGTGTGGTGGCTTACAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAGACCAGTCTGGCCAATATAGTGAAACCCCATCTCTAGTAAAAATACACAAATTAATCGGGCCTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAAGAGGCAGAGGTTGCAGTGAGCTGAGATCTCACCACTGCATTCCAGCTTGGGTGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAGCATAATTGAATATCTGTTTTCAGGAGCTTCTGGCAAGCCCAAATGAGAATCGCAATGCAAATATATAGGGCTTTGGAGAAAAGCCATGTTCTACTCTGCATATAATTATTATTTTAAGAATCAACTCTTATCTTGCTATGCTATTGAGCTTTGTCAAGACAAAATGAGAACTTCATGACCACTGTTCATCATGAATTGGCTATGCACCGACACACTAGGCCATAAGGTGGGAGGAGAATAAGATTCGGCAAGTCCAGAAACAGGTTTCATGAGCAGGTGACTGCTAAGGACTCCGATTCCATCTTTTCCTTCTTCTCCATCTTTTCTTCCCATAATTTACACTTAGGACCTCATTGGGAGTTGCCTACGGCAGCTGGTTTGCAGATGGTTCTGTTATGCTGGCACCAGCCATAAGTGGATCGCTGCCAATGCTACTGTCTCACTCAAGGATAGTGCTGAAGAACAAAGGGAAAAGGATAGCTTCCCAGTGGACAAAACTTGTAGCAGTAAAATTTAGTTTTTCATTTTATCTGCGTAACAGATGGCCAGAAGTACAGATCTACACAAATTCATGTGTGGTTCTCTGAGTAGATGGTCAGAGACTGGGAAAGAATGGCATTGGATAACTAGTGACAGACTGAAGAAGAGATGTGTAAATGGACTTCTCAGAAGGGACACAGGGTGGGGCATACCTGTGTCCCACGTGAATGTTCCCTGAAGGTCATCTGCTACACAGGAGACTTTCAGGAATCAGGGGGATGTGATGACACATTCAGTGGGTGTGCTGGAAGGCTCCGGGGTGTTTGCTCAATGGGTCTGGGTATAAAGTGGCTAAGGAAGTGGTGATAGAAGCCACTCAAGGGTTCAGCAGCATTAACTTCCCGGGGGAACCACTCAGCCACATGATAGGGCAAGCAGATTGTAACACTGACCTCCACCAATTTCTGCCTTGTCCTGATATAATGGCACAATGGCCTGAGAATACTCAGTTACAGCGCCCATAAAGTGACAGCATTCTGGAAGTAGTATATGCTTTGAAGCAGCAATCAATCAACAGAATACAGGAGTCTGGAAATCAAAGAGGCATAATTGGAAATGGCTCTTCTCATATTTCTTCTGCAGGATTTTTGCTTCTCCCTCCAGAATCTTGTGCTTTGCTGGTTTGGAGATTCTAGTTCCTAAGACAGAAGTGCTTCTGCTGGAGAAAATAAGGCTGTATCTGTTGAATGGGATACTGAGGCTTTATTCTGTCATTTGAGGCTTCTTATTCCACTATAAAGAATAGAGTAACTGTCCTGGCTGATCCCTAAGCAGAAATTGGGTTTCTGCTCACAAGGGAGGTAGGAAGAACCATGTCCCCCTAAAAACCCAGGGGATGCTCTTGAGTGCTTCTTGGCTCTGCCACACATAATAGAAAATGTTAGTGGACAATTTTGTGGGCTAGATTGTGTCCCCCGAAAAAGCTATGCTAAAATCCTAACCCCCAATACCTGTGAACGTGATGTTATTTGGGAGTACAGTCTTTGCAAATGATATCAAGGGTAGATGAGCTGGATAAGGGTGGGCTCTAGTCCATGTGACTATCGTCCTTATAAGAAACAGAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATACCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGTGTGGACCCAGGAGGCAGAGCTTGAAGTGAGCCAAGATCGCACCACTGCACTCCACCCTGGGAGACAGTGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAGGAAACAGAGAAGAGACACAGACACACACAGAAAGAGTGCCATGTGACAATGGAGGCAGATACTGGAATGATGAAGCAACAAGCCAAAAAATTACCAGGACGTGCCAGCAGCATCAGAGCTAGGAGAGGGGCCTAGGGAGGCTTTTCTTTCAGAACCTCCAGAAGGAATGCATTCTGCTGACATCTTGATTTTGGACTTCCAGCCTCTAGAACTGTGACAAAATCAATTTGTTTTTTGAGCCACCACTCAGTTTGTGGTAATTTATTTTGTCAGCCTTTGGAAATAGAAATGGACAATAATAGCAACCTCACAAAGGCAGGACTGCTAAGGACTCACACCCTTTGGGAATTAAGGTTTGGGTCACCCGACAAGAAAAAGGATCCCCAACTAGTTGAGTTAAATATTAGCTACGATACTGTGGCCAGAAATGAAGACTGTAGCAGCTGTCCATATTTTCTTCTTATAAATATGTGTGTGCACACATGTGTGCATATATGTGCAAGTGTGGGCATGCATGTTGTAAACTAAAAATAAAATCCAAGCTGGGCACAGTGGCTCGCACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAACCAACATGGGGAAATCTCATTTCTACTAAAAATACTAAAAAGTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGTGTTGTGGCTCACACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCATGAGGATTGCTTGAACTGGGGAGGTGAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGTGACAGAGCGAAACTCTGTCTAAATAAACAAATATAAAATCCAGACTCTCCCACCTATTGAACAGACCCCATTGTGGCCAAGGAGAGCCCAGAGAAACCTGAAAACTGAGTTCCTGGCCATGACAGGATGGGACATCAGACATGCCTTGTTATGCCCCTTCCCTTTTATGGTTTAGTCACAACAGCCAGCATTAATGTTAAAATAGAGACTGTAAGAATGACAGAACAGACTCTTTGTGGCCATAAGATACCAAATTATAAACAGGACCTACCATGCCAAGCAAGAGGTAAGTCACACACCCCTACACTGAAAGGATAAACTATGTTCTCACAGCTTTTTCTTTTTCTCTAGCAGCTAAACAAGCCCCAGCCTCAACGTAAGCAATATTAAAACAATCACAATCCATCCAGCTCACAGACAGACACTCACTCACTAAACTCCTGTTCCGCCAGCCATAGTTACAGCTTCGATCAGACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGAGCCCACCAATCATGGACTGGTTCTGGCTGGTTTACAGAGGTTGCACACTTAAGTGCCTTTGTCTCCTGATAAAACCTGTTGACATATAGGGCTAAACTGTAACAAATTTAAATGGTAACTCTCCACCCCAAGGTGAATATGGGTTGTATGTTACATGCATGTTTGTTCACTAGGCATGTGTCAGGACCACCTTCATGAATATTCACAGCTCCTCCTGTAACTTGTTGAATATGTGTGTTTAGTCAACCTATTCAGAATGAAGCTTCTACAACTCAACCCCTTCTCCTTCAAAGTGCCTGTCTCCGGGCTTCAGCCAGAGGCATGCTTCCCAGCCTGCAGGTTGGCCACCTTGCAGGATGTAGCCCTTTATAAGAAAAAAGTCTCCTTTCCGTTTCTAAATTTAAAAATTGTGGATTTTTTTTTTTCAGTTAACAATATCCATTTAAATTTTTCAAATAGATGGTTTGCAAATGTTTGGCATGGGAAAATGCAGGCATATTTCATGAGTAGTTGTCAGAAATTAGGATCAATTTTACGAGGTGACTATCCAACAGGGACCAAGGAAGGAATCTCTGCCATTTTCATAGAGCCACTGATTGGCCCACTCATTGAAAATGCTGAGCAAGACCTCACCCTCACTCGCCCGGTCCTGAACCAGCCTGGCAGAGTTCTTGTCCCACTCAGAGATAGCGTTCTACATCCTATCTGAGTGACAGGATCAGCCCTGCCCTTATCAGCCCTCCGTAGATTCCATAATGAGGCTCCTACGAGTCTCTCTCATCTTCTCATTATCTCAACTACGATCCCTCTCCCTTTTATAGCACAAACTCCTCCAGTCCTGTGACATCTGTGATCATCAGGAACTTTTATTTTACCCATGGCTTTTTCCTCCTACACTGCTTCCCTCCACTTATCCAGAAACCCATCAATCTCTAAATGCTCTGCTCATGTATAATATCTTCCCTAAACTTCTGCACATCTCTAACCCATTAATATCACATAGTTTATGCTTAGTTCCTCCTCATTCATTTTATGAGATTTTGTTTAGCCCTAAAGATTTTTTCCATCTGGCTTGAAATTCTTACTTCTTTTTTTTAAATTTTTTGCCAAATTCAATCTTTAAAATAGGGGAACGATCCTCTTTCCTTCAAGAGATTTTGATGTCAGAAAGCACTGACTCACGCAAAGGTCCACATTTTCAGATTCACTGGCAAGCTGGTTGGTGAGGACAAGCTTTTGACTGAATCAAAGCTCAGTGGTTTTAAAGTGGAGTTGGGCAGAGCCTAGGCTTTTTGTGAGGGTGCTTAGGTGTCACTATGAAGGCCAGACGAGGGAGAGGGTGAGTGTGAGTTGAGTGAGTGAGACCGGAGCTTCAGCCAAAACAGCTATACTTTTGTCTATGTATATGCATATGTCTATATGTGTATATGTATGTATGTGTATGTGTACATGTATATGATATGCGTGGATACATGCTCATGTATATGCACTTGTGCATGTATTTGCATATGTATTTGTATATGCATTTGTATGTGTATGTGTATATGCATGTATATTTATATTAAATAGTGGGTAACTTTTCATTTCCCAGCAGGTTCAGATGCTTTAGAAACATAGTTTGAGATTCACTGCTTTAGGACCACATACTCATGATGAAAGACAAAAACGAAAAATAAACAGAGTCAGGGAGATTAAATCTATAACCAAAGACAACATGAGTATTTAATGTCAGCTACTCAAGCTCCAGTTTCCCCCTTCTGGTGAAAGGCTTGTTCCCTGGGGTCTTCTCTCTCAAAGGTCAGCGGCAGGAACTCCTTGGGGACTGGATGAGTAACTGGCATCTTTCAGTCCTGGGGTTGGGCTGTGCCTGTGGCTCTGAAACTCAGAAACTCCTCAGCCTGTGACCTCATGGGCTGGATCTGGCCCTGGCTCTGCCACTCAGACTCCGTGACATCTCCTCAATCCCTTCCCGCTGCAGCAGAGTGGCTACTGTGCTGCTCTCCAGCCAGCCTGGGGACTACCGTCTCTTAGGGCTTCACTGTAGGACGCACCTTTTATTCTCTGGATAGTTTTTATGACTTTGTTTGTTATTTACAGGCCAAGTTCAGTGGCCCCTGTAAACACAGTCACAATCTGCAACCGTGCTCTTAATTATGATCTTATTAAGAAATAGATTCCCACACAACTGGCACAAGGATGCCAGAAGCCAATATTTCTAATTCATAAATGTTTAGACTTATTTTCTCTCACCAAAATGTGCCTCTGAAAGCCTCAAGAGAAGAGGAAATAAAGAAATAAAAGTGAAAAAAGCAACCAGCAATAAGGATGATTCTGTTACTTCAACTATGCCTAAGACAGCCTGACCTTTAGCTGGAAATGGCCAGTCCCTTCTGGACTGTTAGGCAGAGAACTAAAAGTCAGGGGCTTCATGAAGAGGGTGGAGATGAAGTGAGGCTCGCCAAGGCCTGCCTGCCGTCCCATCGCTCTGAGGTGATGGGAGGTTCTATCCTGTTTCAGAAATTAGCACACTGAGCCTTTGGAACCCTGTAGGTCTCTCCTAGATTGCAGCCTGTCAGATGGTGTCCCTCAAGTGGCCCTACCTTCTTAATGTGAAGAGCAGCACTCAGGCAATATGACTTCCTCCAGCTTCAAAGGCAAACAAAACTTCAAAGGCTGATGCAGCCTTTCTTTTTCTTTACAGCAGATCACTAACAGAGCCTTTTGTACATTGCAAACATTTGTAAATATATATTAATATTTGTTCTAGTCCTGACCTGAACAGAACTTTTTGCATGATGAAATGCATAAACCTCATCCTAGAAATAAATGAGCATTCTGGATAAATATTTTAGCATTTTTATGAAGTTTTTTTTTTTTTTTTTTTTTTTTTCGAGACAGAGTTTCACTTTATTGCTCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCCACCTTCACCTCCCAGGCTCACCCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTCTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATAAGCCACCGCATCAGGACTTTATAAAGTTTTTTTGTTTTGTTTTGTTTTTTTGAGACGGACTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATGGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACTGCAGGTGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTAGTAGCGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCAACATCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCCATAAAGTATTTCAATGGGCTAAGAATTCTTCCAAACCTCAGCTGAACACCTGCTCTGCTGATTCCTGACAACTCCAGCTGGGTCCCCAGGACTAGACAAAGATTTCAAGCTTCCTTTAGCAGCTATGTTGCTCTTTGCACCCATGCCTGCAACTCTTTAATCTTTTTTTTTCTGTAAAGTTTTCTAATGTCAGTCTTTGAATTAGCTTTCTAGAGATCTGGAAGATCCCTTGCACCATGAATAGCTAAAGTTAAAAGAAATGTATAACATAGTTGAAAAGGAATGGAAGGCGTAGTAGATGTAGATTGAATTTTCCCTGATGTTTATAATTATTTGCAATTACTCATGTCATTTTCATCCTTTTACAAGATCATGGCCCCGTTTCATAGGGGAGAAAGCTAAGGGTAAGAAGGTAAAGGGATCTGTCCAAAAGCTGACAACTAACCCACTAAAGGCTCAAGGTCTTACTTAGACTCCATTTATTTTCTAAACCAAATGTTTCTGCTCTTTCCCTCACATCACAAGGGCATGCAGAAGGATGCTTATAAATCACCACTGACTGCTGGGGTGGAAAGGAGAAACGAGTGCACAGACCAACATGCAGATTCACCTGCAAACACTGTACACACCTGTCCTGGAACTCTCTCCTTGCTCTGGAGCCAAGGATAATACAGAGAGGACAAACACTGAGGTTTTAGTTCCAGGCACCTCTGTGCCTGGAGACAGGCAGCACCTTAAAAACACATGATGAGGCAATTTGAATGTGAAACATCAGGGTGCTTTCCCTAAAGCATCCTTCATGTTCCATCAGCAATTGTTCTGTGGGTGTAATCAGTTTATGTTTTCTTCTGCTCTTTCCACAGTCTCTCCAGATATGTCTTCCTCCCTCTGTAAGGGAACATGAGAAGCGTTGCCAGTTTAAAAAAAAATTGTTAATAAACATACAACTTGCATGTGCTTGCTTGAGATGCCCATTACTGAAGAATTGGCTCTAGAAATTCTAGAATAGGAGCACTGATACAATTATGAAACTGATCCTCCCAAGCAAAATACTCTAACTTTTTGTTAACAGAAGAAAAAGGCTTTGAGCCAGCTTTCAAAATCTTTTCAGTTTGTGCCTTTGAACTTTATGGTGAGGGTGGGGAAGAGCAAAATCTACTAGTCAAGCAGAGACCTTGTCTGCTTTCCTTCCACAGTCTCAGAAACTGGGTAGAAATTAACTGCCTTTAAAGACAAGAGGCAATTGCAATTCCATGAGCACCAGCCTTACATCCCCATCATTTGTGTGCTGAGAAAGGTGACAGCAGCCTTCCAGGGCCTTGGTATTCAGATTGGCAAACTCCACAGCAGGAATGCTGAATGAGGCAGAACTTTCTCGGAAAAGTGTTGAATCAGTACATTTCGATGGAACAGCCCCCAGAGGCATAATATTTAGTGATTTCAGCCTACATTATTTATTGACTCATCAGGAGTTTGTGGGTTTAACATTTTATTAATATGGCACCAGGTCATCTGAGAAAGTGGTAGCCATAGGAAATCTTCCCAGAAGCACATTTTCATATTATAAACAGTGCCCTTCGAGGACTAAACAGAGTCCCCACTGTGTCTCTGGGGAGAGATAGAAAATGCCACATCTTCTACAAGCCATCTCTCTCTAAGGAAGTCAAATGGCAGTGAGTAAAATCCATACCTACTTTAATTCTTTTGTTGATAATCTTGTAGTCCTTATTCTGTGACTTCAGATTTGTACACATCTGGGGCAGCTGCAATCTCTAGGACCTAAGGTAGATTTGGGTACTTAAATGAGTCCCTGCTGTTTCATTTGTTAAGTGACCCCCAGATGTCTGGCATCAAAGAAAACTTTCAGTATTGAGAATGTGGAATCAAGATCAAACAAAATCCATATCCAAGGGAATTTGAAAAGGGAATCAATCTATAGTATCAAGTTTCAATAAGATACAATTTAGCCATTTTCCAAACAAAAGGAAAACTCAATACTCATGATTTTTCTCTCCTATATTACATTACATACTATTTTAAGATAATCACAAATACAGAACAAACTACCATCCGATACTCTTCTTAAAGAGATTGATAGGGATTTGGCCTAGAGATTTGGTTTGGTTTAATCTCAATGATTAATATTTCTATAAGTTTATATTGATTGATATTACAACATTTCAAAATGCCATTTAAGAGCTCAAACAAGAAATAAAGTTGTTAAGAATACTTTTACTGTGTTAGTTAGACATTGATAAGATAGATAGACAGGTAGAATATATAGTCATGTACCACATAACAACATTTCAACCAACAATGGACCACATATATGATGGTGGTCCCATAATATTATAATGGAGCATATATAGAAACCTAACTTATGGCACTTGTTATTGGCATTGCAGATCAAGTAGGGGAAATGACTGATATTTAGTAATGATGCTGGGACATTTGGTTTTCCATGTAAAAAATATATATAAAATAAGTATATAATATTATAAATATATAAGTATATAATATTATAAATATATATAATATACATATAATAATATGCATATACATCATCTAGGTTTGTGTAAGTACACTCTATGACATTCACACAATGACAAAATTGCCTAACGTTGCATTTATCAGAATGTCTCCTCATCATTAAATAATGCAGGACTGTATATAAACATACAGACATATAGCATGCGTGACAACTTTCTCATGCATGGCTGAGAACAGGGCTCTGGAGCCAGATTTTTAAATTCAATTCCTGGCTCCACCAGCTGTGTGGCCTTGCCTAGGATGACTTGCCTTCCCATTTTGAGCCTCAGTTTCCTCATTTGTAAACTGGAGGTATTTCTAGCACCTACTTTGTATGTCTGTAAGAGCTAGCACAGTACCTGACACATGGTAAGTGCTAAATAAGTGTTGACAATTATTTCTATGTGTTTATTTTATTATCAATTCTTTTTTGGACCTCAGGTGCACAGGACATCAAGCATACCACTCAGATCAAGGCTCCTTATTAACTTGAGAACAGCCTCTCTTTCATTTTATGTTTTGTTCCTGTATTATTCTGTTCTCCCATTGCTATGAAGAAATACCTGAGGCTGGGTAATTTACAAAGAAAAGTGGTTTAATTGGCTCACCGTTCTGCAGGCTGTGCAGAAGGCATGATGCTGAGTACATAGCTGAGCATCTGCTCAGCTTCCAGGGGAGCCTAAGACAACTTAAAATCATGGCAGGAGGAGAAGGGGGAGCAGGCACATCACATGACCAGAGCAGGAAGAAGAGAGAGAGAGTGAAGGGGGAGGTGCCATACACTTTTCAACAACCAGATCTTGCAAGTACTCACTCACTGTCATAGGGACAGCACCAAGGGGAGAGTGCTAAACCATTCATGAGCAACCACCCCCATGATCCAATCACGTTCCCGCAGGCCTCACCTCCAACATTGGGAATTACAGTTCGACATGAGGTTTGGGCAGAGACACAGATCCAAACCTTATCAGTCCCCATCTCCTGCTTCATTCTACCCCTGAGCACAGGTTTCATTTTAATTTAATTTAATGTAATAGTTGGCATGCATTCTTTCCTTGTAGATGACATCATAAAATGTGTAGACCTGTTTTGTATGCATACATTTTAAATTACGTAAATGCAATTTTGCTTCTTCCTTTTTCCCTCAGATAAGTGTTTTTAAGATATCCTTGTTGCTGTGTGCACACCTTGTCAGTATCATGCATTCACCATATTTTACATGTCTATTACCACAGTTGTTGGTTGAATTGTGTCCCGCCAAAAATATGTTGAAGCCATAACTCGATATAATTAAACTAAGATGAGTTTTTATTGTATTAAAATCTAAATCCTAAATCCCTAAATCCAAAAACTTTTGTTCTTATAAGATGAGAGAAATCTGAAGACATAAACAGGAAAGAAGGCCATGTAAACATGGAGGCAGATTGGAGTCATGGTGCTACAAAGCAGGGAATGTTAAGGATGGCTTTCAACCATCAAGAATTGGAGGAGGCAAGAAATAATTCTTCCCTAGGAACTTCAGAGGGAGCATGGACCTGCCAACAATTTGATTTCAGACTTCTCATCTTTAGAACTCAGAGATAATAAATTTATTTTGTTTTAAGCCACTCAATTCAAGACAGCTTGTCATAGCAGCCCTAGAAAACTAGTACAAAGTCTCCAACCATTTTTGTAGTAGAACTATCTATTTCTTCCCTTAATTCTGTCAATATTTGTTTCATATCTTTTGGGGCTCTATTGTTTGGTACATATGTATTTACAATTGTTATATCTCCTTGGTGAATTGATCTTTTAAATCAATATTTAATACCTTTTTTGTCTCTTGCAACAATTTTTGAATCAAAGTCTATTTTATCAAATATTAGTGTAGCCACTCTAGCTCTATTTGCATGGACTATCTTCTTATATCCTTTCATTTTCAACCTATAATATTTGTGTCTTTGGCTTTAAAATGAGTCTCTTTTAGACAGCATATAGTTGGACCATTTAAACAAAATCTATTCTGCCAGTCTCTGTCTTTTAACTAGTGAGTTCAATCGTTTGCCTTTAAAGTGACTACTGGTGATTTTTTAATTTAGTTCTTGCATGTCTTTTATCTCTTTGCTCACTGATAACCTCCAATACTGCTTTCTTTTGTGTTAGATTGATTTTTTTTCTAGTTTGTCATTTTAATTCCCACCTCATTTCCTTTTATGTATATTTTTAGATATTTTCTTAGTGCTTACCATGGGGATTACATTTAAATCTGAAATTTAAAATAATCTAGTGTGAATTGATATCAAATTAGCTTCAAGAGCATATAAAAACTCTGTTCTTGTACAGTTCAGTATCCCCCTTTATGTTGTCACAAATAACATTTTTATACATTGCATGATTATTAACACAAAGTTAAAAGTACTATTTATGCATTTGTTTTTAAAATAAAATAGGATATAAAAAGAGGAGTTATACATCAAAAATTTAATAATACTGGCTTATGTATTTACCTGTATAGTTACCTTTACCAGAGCTCTTATTTCTTCATATGTGTTCAAATTCCTGTCTAGTTTCCTTTTATTTCAGCCTGAAGGATTCTATTCAGCATTTCTTAGAGGTCAGGCCTCCTAGTGATACACTTCCTCAGCTTTTGTTTATGTGGGAAAGTATTAATTTCTCATTTCATTGAGAATGATAGCTTGCTGGACATAGAATTCTTGGTTGACAGTTTTATTTTATTTTAAGCTCTTTAAATATGTCATCCCACTGCATTTTGCCCCCCACAATTTCTTATCCCTTAGGTTCTATAAATTTTTCTTTATTATTTTTTCTTTCTGCTCTCCAGACTGGATAATTTCAATTGTCCTAGCTTCAAATTCACTGATTCTCTCATGCCTGCTCAAATCTACTAGTGAACCTCTCTAGGTTAATTATTTGTTTCAGTTATCATGCTTTTCAGGCTCAGAATGTCTACTTCATTCATTTTTTATAATATCTATTGCTTTGTTGCTATTCTCTATTTTTTCATATGTAATTCTCCTGTTCACAGTTTCCTTTGTTCACGATTTACTTTAGCTCTTTGAGCATATTTTAGATAGTTAATTTAATTTCTTTGTTTAATGAATCCGATGTTAGGGCTTTATCATTGACGGTTTCTGTCTGTTTTTTCTTTGTTGTGTGTGAATAGGCCATACTTTCCTCTTTTGTATGCCTTTGATGTTTGTTGTTGATGTTGAAAACTTGACGCTGTGAATATTATAATATTGTAACTATGATAATCAGATCCTTCCCCCTCCCCACGGTTTGTTGATGGTGATAGTAAAGAACTGCATTCTGTTTTTTTATTTTTGCAAAGTATTTTTATGAAGACCGCATTCTTTATTGTACATAGTCTTGCAATCTGTTTCATTATTTCCTCATTTGACCTGTGACCTGATAGAGATTTCCTTAAATGCCTGGAGCCAAAACAAAAAACAACAAAAAAAAGATTTTGGTCTTTTCATATTGGCCCTGAGCTGGTACAATACTTTATTGTTTAGACAGCCCACCTATAACTCAGCCTTAGCTTTCATGAAGCTCCATGCCCAAAGATACCCAGAGTTGCAAGTCTAGGGCACTGTCAGTTCTTTTTATGAGAATGTATTTATCTTTGGGTGTAGACTTTACACTCCAGATTACTCATTATGTGCAGTGCCTTTACTTCCTCAAGAGTCTACCTCAGTAGCCACCTCATTCCCAGACCTTTAGGACCATCTGGTATCTGCTCCGTCCTCCATCACTTGTCTTAGGTGGCTATGGGTAGCACTCCAAACACTTTCATGAGATGATACCTAAAAGGCTCCTCCAGCAGAAAGAGATGAAACAATGGTCAGCCTCTGTGCTGGTCTCTCAGGGAACTGCCACATAAGTCAAAACCTACAAATACAATTTATTTTCAGAACAAGGTCTATATTCTGCCACCTACCACCCAGGCAGTGGCACCAGCAAGCCACATCATAAATTCATGTTGTGATTCCCAGGACCACTGGTGATCTAGGGAATCAAGAATTGTCTGTGGGTCAGAAAAAAGCCACAGTTTTTTCTTACTAAAATTCAGCTTTCTCTTTTTTCAATAGATATTCTCTGATTATTGTAAGTGTTGAATTAGATTGCAGAGTTTTAGTAAAAGTGGATTCTGCCAGTTTTTCTAAGATTAATGGTGGCTTCAGTGGAGGAACCAATTCTTGGAGCTCCCTACTTAACTAGTCCTATCATGTAACCACACTCCTAATCTTTTAAAATGAAGAGCAGTAGAAATGAACAAAGGTAACATAAAATTTACTGGCTTTCTCATTTTTGATTTCTCTAAAGTCTTACTATTTAAAGCAAAAATAATAACAGATTTTGTGTCTAAAGCATATGTAAAATTGTAGTGTATAAAAATAGTACATAGGTCAGAGGGAGGATTGGAGATATATATAGATATATAGAGAGAGATATATACACACACATACACAAACACATTCTTATAATATGTAATTTTAATTTTATTTTTCCCTTTATTCTTATCATTGTATATGTAATGTTTTTGCAGCCCATTTTTTGCCACTTACTATGTGTTGAAGGACATGAACCAATCACAATATTTGTAATGACTTCATGATAATCCCTCTGTGTGTCAGTGAAAATGTATTCACAGATAAAAGGCTCCTGACTAACTAATTTAAGCAGAGAAGGACTTTGCACAAGGCATTAAATTGCTTAATCCATGACAGGAGTGAGACAGCTGGATTTAATGTCTAGAAATGACACCCAAAGACAGCCTGCACCACTAAAAGCCCAGGAGAGTTGCTTCTTTGGACTTAGCATTAGGCCACTTGTATTAGTCACAGTTCTCCTGAGAGTATTACACACATCTCTCTGTCTCTCTGTCGCTCTCTCTGTCTCTCTGTCTTTCTCTCTCTTTCTCTCTCCCTCTCTTTCTGTATATATATATATATATATATATATATATTTGATGGTTTCTGTTTTTTCTTTTCTGTGTGTGAATAGCCCATACTTTCCTCCTTTGTATGCCTTTCGATGTTTGTTGTTGTTTGCTATATATATATATAGAGAGAGAGAGAGAAATACACATAAAATACACACACATATATGTGTGTGTGTGTATATAATATACAATATATTACATATGTTATATGTAATAAGGATTTGGCTTGCACAATTTTGGAAACTGGCAAGTTCAAAGTTCAAATCTGAAGTAAGATCCAGGAGAACGGATGGTACAGATGAAGCCCAAAAGCACTCTTTTGGAAAATTTTCCATTACTCAAGGTATGGTTTGCCTTTTGTTCTGTTCAGGAATTCAAATGATTCGATGAGGCCCAACTACATTATGGAGGGCAATACACTTTACCAATTGAAATGTTAAGTGTCATCTCCAAACACCCTCATAGAAACACCCAGAATAATGTTTAACCAAATATCTGGGCACCCTATGGCCCAGTTAAGTTGATACAAAATTAATCATCATAAGCATCCCTTGTCAACCTGACAACCATGCACATCTTGAAGAGATAATAACAAGGTCATTCTTCTGCCTAACATGGTGCAAACATCCTGTGTACAACCAAAAACACATGAAATATTTCCCCAGAAAAATAAGCAAAATAATTGGATGATGTTTATATTTTTCGTTTATATCCCAAAACTTAAATATCATGTTGTAAAATGACAATATTTAACTACTATGAAAGAAAGTCAGCCAGGCGTGGTGGTTCATGCTTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGCCATGAACCCAGGAGGCGGAGCTTGCAGTGAACGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTCAATACTTGTTATGTTACATAATAAGGGAATAAGAGAGAGAACAAAAGATATATATACACTTACACACAGATTTCACATGGATGACCAAGTGTTACTACACAGTTACATGATCTGTGCTTCATCAATGATTTGAAATACCACATTTATCATACACAATATGCCTCTGATGCAATCCTAAGGAGATAGGAATGGGTGATAGAAGCTGGAGTGGGGCTTCAAGGAACTGGGATTGTTTCTGCTACTCACAGAATGGGGGCATACATAGAAGCTGAGCCATGCAGTTGCTCTCACACACCTGAGATCGCATCTTTCACAGTCAGAATACAAGGGCAGGAGTGCTGGGGTCCTGAAACCAATGTGAAAGGACCATCCAGCCTTTACCTGAAGGAATGTTCCCTGGATTATGGTTGTTTGAAGGCTGACTCACACACAGTGGAAAAACTAGACACGATGTTTTAGGGAAAAGAGCTTAAGGGTAGGTCCTCCTGTTGAAGCCAGCTACAATTAAGTCAAGAGAGGGGCAGGGGTGGGGGGCACGAAAGCAAAGAAATGCCACTTATCTGAAATCTCCAAGAGGAATGTGGATGGCAACTGGCACCTGCAGCTGATAGGGACCCACCAGATTCCAAGCCTCTGGGCTGTGAGTGATTGCGGGGCAGAGGGATCGGGAGCCTCATGTAGCAGAGACCTGGGACTGCTCCAGACACAAAATGAGCCCAGAGCCCCCCACATGACTACAGGTAGGAAGCAGGCTGAGAAAGCTGCGAGCTTGCAAGGATGCCATGGTCTCTTTAGTGCCCTATTCTCCAAAGAGGAGCTAAGGCCAGGAGAGTAGGAGATGAAGTCCCTGCCCTGCTGGGAAACTGAACGACCAAGGGTGATGGGACCTCACAGCCTCTGCCCAGTGGAATTTCAGGGTTTCTATGGCCATTGACAGTCGCCTGTCTCCCAGTTATTCCATTCCTGTTCTACTACTGCATGTTGTTGTGTGGGTGTGACTGTATGGTTGCGTGGTATCAGCTAACTTGTTCTTTTATTTAGCCCATGGGTCTCCAGACTCAAAGAAGCTATATCTGCATCTTTCAAAGAGACCACTGGGCATCACGCAGAAGCCCGTGACTTTGAGGCTGATGAGACTTTAGGATGTCTCCCACTACCTTTGATATTTGTGTAGCAAAAAGACTGAATCAAATATTCAGTGACCAGAAGGATAGACTGTGGTTGGCATTAAAACTGTTCACTAATATCCACTTTTCTTCTGCTTCTGGGCTCTCAGAAGAATTGCAGCTCCTGGCCTCCCCAAAGCTACACGTGGCTCTGTAACTTGCTTTGACCAATGAAATATAAGTGGCAGATGTCATTTTAAGTGGATGCATTTAATTGCCAGTGCTTACCTCTCCAGTCCTTCTCTTCCTCCTGCCCCTAAGCCTGGTGACCTCCTGATGGCAGCGCTCCATCAGCCTGGAGGAGAATGGCATGTAGCAAGCCCTGACTTCCCTGTGCACCAGGAGCAGAAAATAAACCTTTGTGGTTTGAGCTGCCGAGATCTGGGGGCTATGTGTTACTGTATCTAACTTAAACTAATTGAAAGTACCTTCATTCATTCCCATGGACTCAAATATCTCTATATTGATGACTCTCAGATTTATAATTCTAATGCAGTCCTCAACCCTGAGCCAGACAGAGTTTTTTTTTTTTTTTGGTTCTGCTTTTCTTAACCTATGAATATTCAAGCGCCCAAGACTCCGTGTTGAGCTCCTTTTTCTTCTCTGTCTACACTTTCCTCCCTTGTAATCTTATTCCCTATCGGGCCTTAAATATTTAAGCACCAGTGTCTTCCAAATTTAAATCTCTAGCCCTGACTAATACCTCTCTAGTACACATCGCTTAATTCCTGGATAGTTCCTACATGACTCTGGACTCTTGAAACTGAATTTAAGCATTGTCTCTGTCTCTCGAATTACACACACACACACACGCACACACACACACACACACACTTTGTGAAATAGTGTTTGCATTTTTCCCACTTAAGTAGTAAGACTGGAGCAAATTTCATAATTAAAAAAAAATCCCTTGAACAGTGTAGCTAAGAAGAAAGGAAGGAAGGAAAAAAGGAAAGGGAGATCTAAGCTTGATCACATCAAACAGAAAATGTAAACACTACGGACAGAATGTTATTGTACCCCATTAGCAACCTGGCTTCAACAAATCATTTTGCAAAGCAAGAATCAGAACCTAAACTAGCCCCTTTCCCAAGACGTATATTCCTTAAGAAATATGCCCTTGAGAACATTGCTCTCACAGGACACTTCAGTCATCAGTAACTTCATGTGGGCTCCAATGGCTGCAATGATCCACTGTACCTACCAGCCAAGAGCATATTCTAGAGGATTTCTCAATGTTAGAAGTGACGATGGCATTGCCACGGTTCTTTTTGTCAACAGTGTTCAATGGGAAGATTGTTCCTGCATGGGTCAATTTCTAGGAAAATCCACTTGAATTAGCGATGGAAAACAGCAAAAATAGTAACAGAAAAACACATGCGGCCTGCTTCACTATGTCCTATTACGATACATGGAAACGTCTGAAATCTTCACTTACATCTCCCTATTTTGACTCCTCATCAGAGAGGTGAGGCTGACTGAGAGGGAGACAGGAGGCTGTGGACCAGGGCCATGGGCCATGTGGGAGCAGGTGCTAGGTCCAAGCGCTCATTCTCCCCTAAGAGACTCTCTCCCCTACCAGGTCTCAAATCCATCACCCCATCATGTCCAGCACAAGAACTTGGCCATGCATCCATTCTCAGCCTGGTATCCCATACTCCAAGTGGCTCATCTCTCAACCTCACCTCATATCCCCACCTTTCCCAACCTTCCCACAGCAGAGCTTGTGCTGATTTATAAGGCTGCCTCTATTTTGTACAAGTTCCTACATAGTCCAAGGCCTGTTCTAGGCTTTCCAGTTTCTCCCACAGTACCAGCCCAGGCAGGAATACCACATATTGTAGTTACTGTTCATTTAAAACATTGATCTCTCCATCCACCCTCCTTTTTTTCCCCACTGCTGTCTCAGACCTTTAGTATTCAATAGGTATTTTAGAATTATTTTGTCAAATTCCACAAAAATCCATGTTGAAATGTTGAGCATTTGGACTGTATTTTGAGACCAATTCATGAGGAACTGTCATCTCACCACACTGAGTCTTTTGATCTAGAATGAAATTCCAATGAATATCCTTCATTCATTCTTCAACCTGGTGCCAGCTGGCCTCAGCTTTGGCCTTTCCTCCAAGACTATTCTTGCTAAGATCCATGGGATGGCCCTGTTACCAATACTGTGGGTGTTTCATTCCCTGTTGTATTTGCCTCCTTGTGTTTGTTGTCTTTGATGACTTCTTCCTTGAACATTCTCCTCTGTTGCTGCAATAACACCTGGCTCTCCTGTTTCATCTGAGTACTTCTCAGCCGCCCCTTCTGACTCTTCTTGGCTGGCCTTTCTGTGGCTATCTGACATGTAAATGACACCCCAGGGCTCCACTCTGAGCTCCTTTATGCTCACTTATGCTTTCTCCACAGATGAAGCTGTCAGTAGCCACGTCTTTAAATATCACCCAAACGCCAACACTTTCCAGGTTTATATTTCAAGCCCCCAACTCTCTTCTGAACTTTACCTTGGTTTTGTACATCTGACCACTTAGTCTCCACTTGGATACCTCACAGTTATTGCAAACATAATGAGGCAAAAAGCACATGTGGCTGTCTTCTTTGAATTGGCTTCTCCTCCAATTTTCCTGAGTTTAGTAAAAGTTCTTCCATCTACTCAGTTGATCAAACCAGTATCCCGGGAGCCATTCTTAAACTGCCTTCTTTCACGATGCATCAGTAATTTCATGGCAGGATTTCCACCTTCAAAATAGCATTGAGGCTACTGGATTCTCCCCATTTTCACTTCCACCATCTGCCCCAGCACAGAGCAGCTGAGATGGCCCCTCATTCCTCCTCTCTGTCCCCACCTCAATCCATTTTCCGTTTAGTGATCTGTATGATCTTTTCAATGGGTTCATACTTTTCCTTCACCTTAATTCTACAGTTACAGAGAATTACAGAGAGAATTAAACAGAAGACCCTTTCTGTGACCTGGGCAGCCCCTGCCTAACTCTCCACCTCTCTACGCATGACCTTTCTTTATTCCTCATCCTCCTGCTTTGTGAGCTTTCTTCCCTCAACACTCTCAGGATCGTTCCTCCTTGGCCCAGAATCTTTCCTGTAAGGACTCACACATATCCTTTAGGTCTCAGGTGCTATGTCACCTGCTCAAATGCTTTCCTTGGTTAAATTATCTCAACGAAGTCCCACCTTTATTTTCTCACGAACCCACTTTTTTCCTTTACTATGCTTCACATTCATTGCAACTATGTGCATGTGTGTGTTACTAGCTTATCTTTTATTATACTGTGACGTCCAGGTAGGGATGGACTATGTCTGTCATTCTCCCCTGGAGATCCAGCAGTTGGCCTGATGCCCAGTGCAGAGATACCTAGAGAGCACCAGCTAAAAACAGATGTGTATACAGTAGTCCTGCCTTATCTGTGGTTTTTCTTACCCATGGTCAACCAGGGTCTGAAAATAGGTGAGTACAGTACAATAAAATATTTTGAGAGGGCGACAGAAACCATATTCACATAAATTTTATTATAGTATGTTGTGATAATTATTTCTAAATTATTGTTGTTAATCTCTTACTATACCTAATTTATAAATTAAACTTTATCATAGGTAGGTATGCAGAAAAAAAGTTAGTATATATAGGGTTTGGTACTAGCTGCAGTTTCAGGTATCCACTGGGGTTTCGGAATGTATTCTCCACGTATGGGGGTGTTAAGGGGTTACTGTATCTGTTTATTGAAGAAATAAATAACTAAAGTTTATAACCATGATACCCTGTGGATGAGCAAAAAAAGCATGGGCTGTTAGTCCTGGTCTGTAATAATAACTCTGACACTGACTGTCATGACAAAGAAGAAATAACAGCATGGTGACTTCAATGCCTAGCATATGGCAGGCAATGGGTTATGGCCACAGTCACATTAATACGGAAGCTTGCATTTAAAGTAGTAAAGAACATGGCTACTGAGTGTGGCCCTTTTTTGGTTTTCCTTTTAAAGTTAAAACTGGCACTTAGATCTGATATCTAGTTTACCTTCACGGGCATTCCATGTGGTACCTGGGAAATAATATAGCTAAAATTGGGTATTATTTTCATTTTCACTTTTAGATTTAACCCTCTGCTTTCTGTGTGCTTAATCCCACCTCACCCACATGCATGCCCTGAGGTCAATGCACCTTTCCATAAGCACACCTCACACTCTCCTTGGAGGGCAAGGCTCCTCCAAACGATGGTTGCAGCTGTAGCCTCCTGCTCGTTGTCAGATTTCTTAACCTTCCTATCCACATCTGCTCTATCAGTTCCTTCTCTCTACATGCTTCCCAGCCCTCTGCCCTTTGTCCTCCACTCTTATTCCTCCCACTGGGTCTCATGTGTGCTTTATTTTTCCTTCTCTCTCCTATGATACTAATGATTCCTGTTATGAACTGAATGTCTGTGTCCCCACCAAATTCATATATTGAAACCCTAGCCCCCCAGGGTAATGTTATTAGGAGGTGAGGCCTTTGGCAGGTGATTAGGTCATGAGGGTGCAGCCTCATGAATGGAATTCGTGCCCTGTTAAGAAGAGACATCTGCTTCCTCTCTCTCTGCCATGTGAGGACACAGCAAGAAGGTGGTTGTCAGCAACCAGGAAGAGAGCCCCACCAGAACCAACCATGTTGGCACTCTATTCTTGGACTTCCCAGCCTCCAGAACTGTGAGAAATAAATGTCTGTTGTTTAAGCCACCCAGGCTACAGTATTCTGTGATAGCAGCCCACGGTGCCTGAGAGACAACCCTCTGCATTTAAAGCTCTTACCTCCCATTATGAGATTTTACTTTGTTTCCCCTTCTCCATAACTACCTTTAATGCTGGCTCTCTCCCTTCTCTAACTGCCTTGTTCTGAATGGGCCTTGCTTGAGAGAGTTCATCCATCCCTGTCAAAGGCATCAAATTCCCTCTATGAGTTTGGCTCTGAAATGTCAACCTTCTGGCCAGCCTCTCAATTCAAACTCAGTTCAGTCTCCAGTTGTCTGCTGCAGAATTTTATTTCCTGGCGTATACACTGAAGTGACCACACCAGATGATGAGAGGTCAGATTCAGCTGCTGCCAAGGTGTAGTAAGAATGCAGTTGGGTGGAGATGACCTAGGTTAAATCCCAATGCTACTATTTCTCAACTGTGTGACCTTGGGCAGGATACTCAGGCTTCCTACGACTTCTTGTTCTCATCTCCAACATGGGGGCGGTGGCAGGATTGCTGTCATCCCCCAGAGCACTGAGCCCACGGCCAATACAGAGTGAGCCCCACATGGTCTACAGGAGGTCAGTGATGGACATGATGGAGGGATGGAGGACCATTGATAGTTCAAACTCAGGTACTGCATGCTTTCTCCCTGGAGAAGAGTTTAGTAGCACCTTGGTCAAGTTGCTGAAGTGTCAAAGGAAAAACTACAAAATATACGTACAAAATATCCTTAGGACTAAATCCAAGGTCCTCTCTTCTCCCTAATAGTTGAAATGATCTCTTGGGTCTCAGGGGATGTGCAGCACCAGACTCCTGGGATAATGCATTTGTGGCGTAATCTGTTTTGTTATAACTGTTTGATGTTTCAGTCAAATGCTGGTGAATCATGTGCATTTTCTCCTTCTCTAAAGGGTGATCTCTTTTTACATCCCTATGGAGTTTTCCACATTCAGGAATTGGGAGTATTTTCTGATTTTGCATTCTAAAAGAGTAAGATAAGAACGCAGATGTTTACAGCAGATTTATTCATAATTGCCAAAACTCAGAAGCAACCAAGATGTCCTTCAGTAGGTGAATGGATAAATAAACTGTGGTACATACAGACAATAGAATATTATTCAGCACTAAAAAGAAATGGGGTATAAGGCCACGGAGAAAACTTAAGTGCATGTTGCTAAGTGAAAGAAGCCAATCTGAAAAGGCTGCATACTTTATGACTGACATGTTGGAAGAGGCAAAATCACAGGGACAGTAAAATGATCAGTGGTTACCAGGGGCTAGAGGGAGGAAAGGATGAACAGGTGGAGCACAGAGGATTTTAGGGCAGTGAAACTACTCTGTATGATACCATAATGGTAGATGCATGTCATTATACATTTGTCTAAACCCGTGGAGTGTACAACAGCAAGAGTGAACCCAGATGTAAATCATGGACTCTGGGCAATAATGATGTCTCAATGTAGGTTCATCAGTTGTAACAACTGGACCACTCTGGTGGGGGAGGCTGAGACAATGGAGGAGTCTATGCATGTGTGGGGTTGGGGGTGAACAGGGACTCTTTACACCTTCCTCTCAATTTTGCTGTGAACCTAAAACTGCACTAAAAGTAAAGTGTATTAAAAAAAGGGTAAGATAGGAAATTATCCTCAATGAAAAAATATATAATCACATAAACAGACATTTCCCTTTCAGTAACACTTTTTGAAACTGTCCTAGTGCTTTGCGGGGAACAATGCCAACCAGGAGGAGGGAGATACAGGATCCTGAGAGCTAAAGGTGGGCTAAGCTCTCTCCTCTGTCTTCCCTGGAATTTCTACTTTCATATTAAAATCATGTCTAAAAACAGACTAATCATCCCCTCAGTCTCTCCTACACTTCATGGCCTTTTCCTACAACTATTTTTCTTTACTTAGTCATGCAAACAGAACACCTGGAGTCAGTGGAACTCATTAAACAGCAGAAACCATGTAGATGCATTCTACTGTCATAAGAGAAGTTATTCCTGACTGGTACACATGCGCAGAGCTGGTGTCTCCTCTGTCCCTGGCTCTGCTGTGGATAACTTTGAGGAAAATGAGGCTCTGAGAGATGCCTGATCTCCCCCAAGGGGAAGCTGGGGTTAAAAGGGTACATGTGGCCTCCTAGTTGTGATTTGATTGTGCCATGCTTCATATTTATATCAAGGAGAGGATATTTGTAGTTGCATGACTACAGCTTAACAGGCTATTGAAACATACAATTCATGTTAGAAAGCTGTTCATAACACACGGCTAAAACAACTAAAAAGTTGGTTCTTGGAGAAGTCTACTCTAGTCACTTGGAAACGCCACAGCGTGGATTTCAACTGGGGCATACGTAACAAGCATGCACTTCCCAAGTTTCCTATGTACAGGTGGCTCTATCAATTGCATCGCACTCCAGAAAATATTGTATTAGTGAAGACAGATTCACACTGTGGAAATAATTCACCCTAAGTGGAAAGAATGACAAAGAAGACAAAGAGTGACAAAGAATTCTTTCCACCTCCAAGTCCTTCTTCCAGGGCTTCTTCACACAGAATACTTGCTTACTTGTTTGGTTTCTGTGTTACTCCCCACTTTCCTAGTTGTGCATTCCTTTGGATATCAGTCTCCATGTTTTGCTAGGGTTGCAAAAAATCTTACCCAAACCACAATCTTGACGTCCTCCCCTCAACTACTGGTTCAATCTCTAATTGCTCCTTCACACAGCAGACAAAACATAAGAATTAAAACTCAGCCAGTCTCCTGAAAAAAAGCTCTTTAACAGCATCTTAGTTTGCCACAGTGGGCTCTGGAGCCCGAGTTTCAGTCCTGACTCATGATCCTGGGGACGTGCAAACCTGGCCAAGTTGGTGATGTATCAGCACTCCATTTCCTTACATCTTAACTCAATGGATTGCTGTGAGGGTGAACTGAGACAAACACAAAGGGCTGAGAACAGAGCCCAGCTCAGAGCAAATCTAACCAGATGACACTGACATCTGTCACCATTACCTCCCCTGAGTTTGGTCAACTCTGGCTCTTTCCGACCCTCCACCAACACCCCCTCCTTTACCAGACTCACCGTGGGCCCCACTCACTATCTGAGCAACTGTAGGATTTGTGAATAAGCTGTTTCTTCTGCCTGGGTGTTCTTTCCACCCTCTACCTCCTCTACCCCAACATTCACATCCTGCTGCTCAGCCTGACTAATTCCTATTGGTCCTTCAGAGTTCAACTTAAACGCTTTTTCCTCTAGGAAGCACCCCCTGGCTGCCCAGACCAGGTCAGCCCTCTGGCTCTCTATCCCGAGCATGCCCGTGGCTCTATCAGGGAACAGAGATTACATCTGTCTTGTTCACCATTGTCTCTTCAGTGTCTAGCATGGCACAGGGCCATAATACCCGACAAATATCTGCTGAATAAATGAAGTCATGGCTGGAACTGTCACCATGGGGTCAGCTATAGACAGGATGCTATCTGAGTGCTCTCAAATGGCAAGTTTGTCAGAAAAAGAATTCAAGACTCAAGTCTTAGCCACATAATGGGGAAATACAATCAGCAGTCAAGAGAAAGAGGAGACCCAACCAGCCATCCAAAACAAGAGTGTTCAGAGGATGCCTGAAAGCTACAGGTACGGAGACAGGACAAGCTAGAGAAGCTGATCATGTTTCAGCAGGGGCAGGTGAAACACGTTAATATAAAAAATGTCAATTTTTTCAAAATTAACCCAAAGCTGGAATACACTGTCAAGCAGAGTTCTAATACTGCATTTCGGGGAATTGGATACAATTATTTTGAAGTATGAACAAAAGAACTGATAATAATAGTAGTAACACACCAACAACAGTCAAGCCAAGAGCTAAATCAGGAATGTACTCCCATTCACAACTGTCACAAAAAGAATAAAATACCAAGGAATACAGCTAACCAGGGAGGTTAAAAATCTCTACAAGGAAAAATACAAAACACTGCTTAAAGAAATCAGAAGTGACACAAACAAATGGAGAAACATTTCATGCTCATGGATAGGAAGAATCAATATGATTGAAGTGGCCATACTGCCCAAAGCAATTTATAAATTCAATGCTATTCCTATTAAACTACCATTGAGATTCTTCATAGAACTAGAAAAAAGTATCTTAAATTTCATATGGAACCAAAAAAGAGCCTGAATAGCCAAGATAATCATAAGCAAAAAGAACAAAGCTGGAGGCATCATGCTACCTAACTTCAAACTATATTACAGGGCTACGGTAGCCAAAACAGCATGGTACTGGTACAAAAACAGATACGTAGACCAATGGTACACAATAGAGAGACCAGAAATAAGACCGCACACCTTCAACCATTTAATCTTTGACAAACCTGACAAAAACAAGGAACGTGTAAAAGACTCTCTATTTAATAAGTGGTGCTGGGATAACTGGCTAGCCATGTATGGAAGATTGAAACTGAACCCCTTCCTTCCACCATATACAAAAATCAACTCAAGATGGATTAAAGACTTAAATGTAAAACCCAAAACTATAAAAGCTCTGGAAGATAACCTAGGCAATACCATCCTGGACATAGGTACAGGCAGAGATTTCATGATGAAGATGCCAAAAGCAATTGCAACAAAAGCAAAAATTGACAAATGGGATCTAATTAAAGAGCTTCTGCACAGCAAAAGAAACACCAACAGAGTAAACAGACAACCTACAGGATGGGAGAAAATTTCGGCAAACTGTGCATCTAACAAAGGTGTAATATCCAGTATCTATAAGGAACTCAAACAAATTTACAAGAAAAAAACCCCACTAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGACATACATGTAGTCAACAATCATATGAATAAAAGTTCAATATCACTGATCATTAAAGACATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTCAGAATGGCTTTTATTAAAAAGTCAAAAAATGGCAGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTGGGGAGGCCAAGGCGGGGGTGGATCACCTGAGGTCAGGGGTTCAAGACCAGCCTGGCCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGTTGGGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGGGGAATTGCTAGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGAGATTGCGCCACTGTACTACAGCCTGGGCAACAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAGTCAAAAAATAACAGATGTTGGCAAGGTTGTGGAGAAAAAGGAACATTTATACATTGCTGGTAGGAGTGTGAATTAGTTCAACCATTGTGGAAGATAGTGTGGTGATTTCTCAAAGACCTAAACATAGAAATATCATTCAACCCAGCAACCCCATTACTGGGTATATACCCAAAGCACTATAAATCATTCTATTGTAAAGGCACATGCACCTATATGTTCATTAAAGCACTATTTACAACAGCAAAGACATGGAATCAACCTAAATGCTCATCAATAACAGGCTGGATAAACAAAATGTGGTACATAAACATCATGGAATACTATGCAACCATAAAAAAGAATGAGATCATGTCTTTTGCAGGGACATGGATGGAGCTGGAGGCCATTATCCTTAACAAACTAACGCAGGAAAAGAAAATCAAATACCACATGTTCTCACTTATAAGTGGGAGCTAAATGATGAGAATACATGGACACATAGAGGGGAACAACACACACTGGGGCCTACTGGAGGGCAGAGGGTGGGAGGAGGGAGAGGATCAGGAAAAATAACTAATGGGTACTAGGCTTAATACCTGGGAGATGAAATAATCTGTACAACAAACCCCCACAACACAAGTTTACCTTTGTAACAAACATGTGCCCCTGAACTTAAAAGTTATAAAAATAAGATTAGTAGTAATAATGATAAAAGCAGTGAACACGTTTACACTTGTAGTTGCACTAGCAATGGGTGAGGGTAACTCCACCCCCCCAAAAAAAAGATTAGCCACAGCTTGATAATTACAGAAGCTGGGTGATGGGTACATGGGACTCAGCATATTACTCTGTATATATTTATAGATGTTTAATATTTTCCATAGTTGAATGTTTAAAGATGTAAGTAAAACAAAATAAATTTAGCAGAAAACAAAAAAGAGGTGCTGTCTTAAGCTCTTCAGATATATTAACATACATCCAAACTCAAACAAGAAAACTGTAGAAAAGAATGACAGGGAGGGAGTGTACGCCTCACACTGAAGCTGTGCCGACCAATGCACTATGAGATCAATGTATGTTCCAGGTGCCATTTCCGTCCCCAGGGAAGAGTAGTTTATTTAACAGACAGAGCTGGCAGAAAACAAATCTATATCCTCCCACCCTCAACACAAATAAGTTTTGGATAAATTTAAAATATAAATGTAAAATAAAATAACCGTAAAAATATTAAAAGAAAATATATTCAAATATTTGTATGACTTTGTATTTGTATGACTTTGGCTTAAGACCTTCTTTTTTTTGGGGGGGCGGGGGGACGGAGTCTCGCTCTGTTGCCAGGCTGGAGTATAGTGGCACAATCTTGGCTCACTACAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAAGCACACACCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCAGGGTTTCACTGTGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAGGCAACATGCCTGCCTCTGCCTCCCAAAGTGCTGGAATTACAGATGGCATGAAGACCTTCTTAAGCAATGTAGGATAGGTAGAAATCATAAATAAAAATAATAGAAATATTTAACCAGATAATGTTTCTTAATATGGCAAAATAAACAATATAAAAAGACATTAATATACTTAGAAAAATCGTTGAAACACATACACAGGCAAGGGACTAACAGCCCTCTAAACAAAGAACTGCTATCCACTATTGAAATAGAGACAGACAACCCCACAAAAACTCCAGCAAAAGACACGAACAAGCGGTTTACAGAAATGGAATCAAGATGGCCAGTAATGCATCAAAAAAGGTAGTCATGAAAAAACGACGCAAACTGCCAATGCCATATCATTTTCACACAAACTGGAAAAACCCTGGGGATGACATCCAGGGTCAGAGGGATTTATTGAGCACTGCATGCACTTGCATTTTGGGGGAAGATGTGAACTTCTATGCCCTTTTTGGAAAGTAATCTGGAAACGGCGATTCAAGTTCAATATCTAAGAACTTGTTGACTCAGTGGTCCCATTTTTGGAAATATATCTTACAGAAATAAGAGCAGGAGTATATTAGAAAGTGTTCAATGATATAAAGAATTTTTGAAGTGGCAGAAACTGGAGAAAGTCAGCATGCTTCTCAGCAGGAAATAACTGGATAGACTGAATGTGTTCATACGGGACTATCACACAGCATTCGAGAAAGAAATTAGACTGGATTTGCTCATCTGGAAGGACATCCATGCTGTACAGTTTCCTGAGGAAGGGAAGCTTCAGAATCATATGTATTGTAGGGAATCATGGACAGTCACTGGTTGTAAAAAAGTATCTATTTATAAAAGTGCATATTTATGTTCATAAATGTATAGGTGTAGCTGGTAGTTTGTACATAGTATCTGTTAGCTCAAGGAAGTATAAATTGGGTGGTATTATTAACATTTTTTAGCTTCTTTTCATTGTTTCACTGGCTGTAAAAATGTCACTATTTTTGCGAAAAAATTAATTGAGAGCATTTTTGTAAAAGGTTAACAGTTTGCCAGAGAAAACAAGGCAGAGAATTTCCAGGAGGGAATAATTAGTTAAATAGGAGACAGCAAAGACAGAAGAACTTGGGCATGGGGGGATGGGGAGAGAGGGAGGAGGGAGAATGGCAGGGGGCCTGGAGCTAATGATGAGGATTCCATGGGGCCAGATGAGGACCTCTGTGGATCCCTTATCTCCCATCTTTATAACTGGCATCCTAAGTGTAAAGAGGAGAGGTGAAGAATTTGGCTGAGGATGGAGACCTGAGCATGCAATAAGTCAGAATGGAAGAGAAGAAGGAACTCCAGCCACCACCATCAGCGCTGAATCTACAAAAGAGGTCCAGGGAGGGAGATCAGTTGCCTGCATCCTCCTTGGAGCAATCCCATAGTTTCCAAGGGTCCCAGAGGCATTCTGATAGAGCATGACAGTGATCCCTAATTTGACAACCCAGGAGGATTATCTGCCATGACAGTTTTCTGTGGAGGAAAGGACCAGCACCTATGCTGCCTCCGCTGATAGGGCTGTTACCCCCTGTACATGCACACGCTGCTCCTCTGCAGCTCTCTCCGCAAGTGCAGCCTGTTGACTCCTGAAATCCAGCCTTACAATCACAGTGGCCCCAAAATGATTGTTTCTTGGGATAGTACGCAAAGGCACACTGCTGATCTGACAGCGTGGATGCCAAAAAGCTTAGAAGCAGCCTTCCTGATTTTAAGATGACTCAAATTACTCTTCAGCGGACGATTTTAAACTTTCATTTACACCTATTAAGTATCCTTAAAGCAAGGGATTCCCACACCATGCCAGGATTCCTGTAAATGCCACATGGCATCAGATCAGATACCAAGTACAGAGGTCTCTGAGGACACTGGACCTGCTGGGGAAGGGGCTGTCCACTCGCTGGGGGCTTCAGAAAGGCCACGGTCTTATGAAAGCACACATTTCTGGGGAGCAGCCCAGACTTGTCACAGAGAAATTTCTGGATGTGGGTCTGGGACTGATTTACAAACACCCCAGGTATTGTTATGCCACTCATCTTGGATCAAAAGACTTTGGAAACCACTCAAAACTCTCATAGTACTGAGTGCTTGGAGCCAGTGTAGGGACCCAACAAACACCTGTGGATTGGCTTTCTATAATGAATGCAATTTGAGGTTCCATGTCTACTAGTCGCCTGATGTCATCCAGTCCAATGCTAAAAGTATTGGATTCAGTATATCAAAAACAACTGGATATTCACTCTTGGTTGTACCCTTTCTCAAAAAATTAATGAAATAAAATGAAATGAAATAATATCTTAAAAGTAGTCACAAGTCATTGCAAAATCCAGGAGGAAAATAACAGTTTGGCTAACTTTAGACTTAATTAGATAAATATGCACGTTGCCATTTCTATGGTAATGTTAACATAATAGACAAAAGAGACATAAAACTTTCAAATAACTACTAAGGTTTTTAAAATGCAATGCCCACATTTGCTCACCATATCTTTTTTTTTTGGAGACAGAGTGTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCTTACTGCAACCTCCACCACCCAGAATCAAGTGATTCTTGTGCCTCAGCCACCAGAGTAGCTGGGATTACAGGCATGCACCACCATGTAGTAGAGATGGGTTTTTGCCATGTTGGACAGGCTGGTCTTGAACTCCTGGCCACAAGTGATCCACCCACCTCAGCTTCCCAAAGTGCTGGGATTAAAGGCTGAACCACTGCGCCTGGCCTCACCATGTCTTGAATGCCTACACTGGGCCAGGCCCTTCTGAGGCACTGCAATGTATCAGTGAACAGAAGAGGCAGAAATCCCTCATGTGGCTTCTTTTCTAAAAGGGGCAGACCCGTCTTTGAATGATGCTACACTTGGTGCTCCAAACAGGATTTTACAGGTGACAGACTACTACCACGGTGAAAAGACAACAGAAAAGGGCAGGCGAGAGGAAGGCCTAGCGGAGTGTGAGGACATGAGTGGGGTGGCCGGAGCAGGCCTCACTGAGAAGGTGATTCTGGAACAAGGATGTGGAGGAGGTGAGCTGGTGACTTGAGTGCCTGGCAGGGCAACAGCCCCAGAGGCTGGAACAGCTTCTGGTGGGCAGGTGCGTCTGAGTGCCTGGAGCAGAGGTGGGGTCGCAGCTGAGGCCTCTCGGGTTGCCGGAAGCCCCAGGAGACTCTCCGCTTTCCCTCTGTGTGAAACCAGGAGTCGCTGCAGGCTTTGGAGCCCAGCTGCCTCATGCTAGAGCTCACATGTGATGGGGCTCACTCTGGCTGCTGCTCAGTGAGCAGATGGTGGGGGGAGGGTGGGAGGTGGGAGGAAGGAGAGAAGCAAGGAGGAGATGAGTCAGGAGGCCACTGCCTTCCCAGAGGAAGGAGGAGAATGGTCTGGCGAGGACGGCTGCCGTGGGGGTGAGACAAAGTGGTGAATTCTCAATGTATTTTGAAAAATTGGTTTAAAAAAGAATCCAAAAGAAGGCATAAGTGAGAGGGGGAAAAAAAACAGAAGATGTGAAACAAATAGAAAGTACAAGAGGAGCTGGGTAGAGGTGAACCCAAATGTGCCACTAATTAAATTAAATGTAAAGAGACCAGATGCTCCAGTTCAAAGTAATAAATTGGCAGACTGAACGCAAGATTCAACTATATGCTGTTTATAGAAGACATCTAAAGCATACACAGAAAGGACAAAATTAAAAGGATGGGTAAGAAATACATCATGTGAATTGTAACCAACAGAAAACTGGTGTAGCGACATTAATAACAGACAGAATAGACTTTTAGGTAAAAAGCATTTGCTAGTGATAAAAAGAATTACTTCAGAATGACAAAAGTAGGACACAGATGTGAATGTACTATTGACAAACTTTACTTAAGGGTCATATAGAATTATACTCTCAAGAGCTGCAGAATACAAAATGCTCTTAGTACAAATGAAACATTTACAAAATATTTATCATACTCTGAGCCATAAAATGCATCATAAAAAATTTAAAAAGAAGAGATCATACAGACCAAGTTTTCTGACCATACTACAATTAACTTAAAAAGATAACTAGCAAATCCCCATATGGTTAGGAGATTTAACACATACTTCCAAATAACCCATAGGATTTGCTTCAAAATAATATAGGAGGTTGTGGTGGGAACAAGGATATAGAAAAAGTAAGATTGGCCACAACTTCATAATTTTTTAAAAAAATTTTTTATTACACTTTAAGTTCTAGCGTACATGTGCACAATGTGCAGGTTTGATACATAGGCATACATGTGCCATGTTGGTTTGCTGCACCCCAGAACTTCATAATTATAAAAGTTGGGTGATGAATACATGGATATTCACTTTATTGTTCCATATACACATAGATATTTAATATTTTCAAGAGTTAAATGTTAGAAACGTAAGTAAAATGAATACAATCTGCATGAAAAATTATAAAAATACAATAACCCAACAATGAAAGAAGAATCACAACTGAAATAATAAAATATTTTGAACTAAATCATAAAATATTTCACAAAAACGTAGTAAGAGACAATAAAAGCCATAGACAGAGAAAGTTTTATTGCTTTAGATGCATATACAAGAAAATAAAAAATACCAAAAATTTAGGAGCCAAATGTCCATTTCAATAAGATAGGAAAAATAGCAAAATAAACACAAAAAAAATTAGAAGAAAGACAATGATGAAGATCAGAAATTTTTTAAAAACCCCAGAAAACAAATATATGGTAGACAGGACCAAGAAAATCAACCATTAGGCTTATGAAAAGAATAATAATATTGAGAACCTCTAAAAATAATTCTATGCAAATAAATTGGCAAATATGAACATAACGGACACAGTCCTAGAAAAATAAAACTTACCAAGGCTGATTAAAATAACAGAAAACTTGGATAGCCCTATAACCACTAAACAAGTTAAATCAACAGATACATACTTTTGTTTTTCTTTATAAAAGGATCTCTAGGTGCAGATGGTTTTCTCAACAAATAAAGAAATAATTCAGTCTTACAATCTAATCCACAATAAAGAACAAGAGGGTACAATCCTAAACTCAGGTTATGAGACTAGCACATAATCTTGGAATGGAAATGTGACAAGAAGTAGTAAGAAAAAAGAAAAAAAATAACAGGGCAATCTCATCCACAACGATTGGTTATATACATTTATTACAATCATGGCAAACTTCTGTTTATTACAGGAATGCAAGGATGGTTTAACACTACAATATTTGCCACATCAACAGATTAAGGGAAAAAAAATTGTGTTACAACACATGCATGTAGATAAGGCTTTTTAAAAACTGAACCACTGAGATTTTATAAATCTAAGCTAGAAATGGAAGGAAATTTCTTCTATCTGATATACGGCTCCTTAGAAAAAATCTGGCACAACATTGTTCATATTTGTAACATGTCAAAAGCTTTTCCTACCACAGAAAAATAGAACTAAACCTAAACATATACATAATTGAATTAAATGCTAATGGACAAACTGCAGAATATTATTTCCAAGTTGCATACAGAGCATTTATTTTAATTAAGTCAGAGATAGAAAAGCAAAACCCGAATAGACTTTATTTACAGATACTCACTTTAAATATAAAGACATAGGTAGCGCGAATGAAAAGGGGTTAAAAATATATATGACATGCAAACTGTGAGCATAAGAAAGTTGGAATGGATGTATTAAAATCAAACAAAAGAGACTTCAAGAAAAAAGTATTACCAGAGATAAACACCTCACTATAATGAAAATATTAATTCACCAGGAAGACAATAAATATATATAAATACACGACTTCAAAATATATAAAGCAAAATATGACAAGACTAAAAGGAAATATAGACAAATCCATAACCATAGTGGATGATTTTGATGTCTATTTCTAAAGGAACTGCTAGAACAACTAGACAGAAAAGGCACGGATATAGAAGACCAGAACATCATCAACAAATATAACCTAATTGTCATTTACAGAATACTCTAATTCAAAACTGTAAAATATAATTTTTTTCAAGTGCAAAAAGAGCCTTCATATCTTGGTGAAAAAGCCATATGCTGATCCACCAAACATGTCTCAATAAAATTCAAAATGCTGAGATAACACAGAATATGTCCTAAGACAAAAAAGGAATTAATCTGGCAATCATGAAAAATGAGATATGTAAAAAAGTCCCAAATATTTGGATACTAAATAACATGCATGTAAATAACTCATGAGAGAAAGGAAAAACACAAGGGAGGTTAGAAAATAATTTTAAACTTGAAGATAATAAAAACATATAATTTTGGTAATGCAGCTAAACTGTGCTTCCAGTGAAAGTTATAGTACTAAACACATAAATGAGGAATGGCTTAAAATTAGTGATCTAAGTTTTCACCTTAAGTATATATGAAAGATAAGCAAATCAAGACCAAAGTAAGTAGAAAGAAGGAAAAAAGAAAGGTGAAATCAGCGAAATAGAAAATAAATAAAATCAACAGCTGGGGATGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACATCACTTGAGGCCAGGAGTTTGAGACCAGCCTGGCCAACATGTTGAAACCCCATCTCAAAAAAAAAAGAAAAGAAAAGAAAAGAAGAGAAAATTAAACAATCTAAAATTTGATTCATTGAAAGATTCATAAGACCGGTAAACAAACACCTAGCAAGACTGATGAAAGAGAGAAATGAGAAGGTGAGGGAGGGAAAGAGGGAAAGCAGGAGCTCGCTTATATCATCAGCATCACAGATGAAGGAGGGAACAGCACCTCAGATTCTACACATATAAAAAGAATAAGAAAATACTGTGAAGAAATATGTTCATAAATTAGACATTTAGATTAATTAGACAAATTTCTTTTAAAACACAACTTACTAAATGTGACATAAAAGGAAACAGAAAATCTGAACTGCATATTTTATTCTGAATCTGTATCTGCTAAGAAAATCGTATTTATTATGAAAATTCTTCCCTTAAAAAAGACATAGATGACTTCACTGGTGAATTCTATCAAATATTTAAGGAAGAAATAATAGTAATTTTATACAACTTTAAGAAGATAAGAGAAAGAAAAACTCATTTCCCAAGTTTGGCATGAGGCTAGCATACCTCTGACACTAAAAGAAGAATGTGAAAAGAAAAGAACAGATCAACAACCAACATGAACATTGCCATAATCACTCATACTGTATTAGTTGAGTCCTGTAATAAATGAAAAATAATCAAGACCAAGTAGAGTGTATCCCAAGAACATAAGATAGGGCAAACATTCAAAAACCAATAAAAATTATTTACTATATTAACTAAAAAAGAGTAAAACATTTGCTAAATTTAATACCTATTCATTTAAAAAAAATCCTGCAACCTTGAAATAAGAAAGAATTCCTCCTGCAATACAGGGCATTTTTAAAAATTCTATCCTTGAATCTTACTTTATGATGAAACGTTGAATTATTTTCCCTTATGATTAAAAAGAAGTTAGGCATATTTAGTCTTAATACTTGTACAAAAGATTGTAGCCAGTGCAATAAAGTAGAAAAGAGGGATAAAGGTTAAAAAGGAAAAATGAAAAGTTTTGCTATTTGTAGATGATATGAATGTCAGTGTAGCAAATTCTAAAAGCTCTATAATTAATAAATGCATTTAGTAAGGCTGCAAGTTACAAGGTCAATATGCCAAAAACATCAATTATATTTTTATATACTAGTAGCAAAAAGTTGGAAAATGATTATATACTAGTAGCAAAAAGTTGGAAAATGAAATTAAAAGAAATCAATTTATAATGGCTTTGAAAAAACATAAAATAATCCAGAATAAATTTAGCAAAAGGTGCCATGGCTTTCTACACTAAAACAAAAACCTCTGTTGAGAGACATTAAAGAAGACCTTACAAAATAGAAAAATATATTACATTCATAGATTCAAAACATCAATATTAGGGTCAGTTCTCCCAAAATTAATCTACAGATTCAAGACAATTCTATTTCTAAAAATCCCAGTAGGCCTTTTTGTAGAAACTGACAAAATTATTCAAAATTTTAAATAAAAATACAATTGATCTAGAAGAGCCAAAATTATCTAGAAAAATATAAAGCTGGAAGCATTCCAGAACTTAAAGAGTTACTATAAAGCTACAGTAATCAAGACAATATGATATGGGCATGAAGGCAAATATATAAATCAATGGGACAAAGATGAAGATATAGCTCAATAGTACAAAATACAGGAGAGCTAGAAAGAAACCCACAACCATGACAAGGTAATTCAGAGGTAGAAGGCCTCAGCAGAGGTTGCTGGGAATAGCTGCATTTTCATGTGGGAAAATAATGTACTTCAATTCCTACCTAATGCCACAAACAAAGATTAATTCAAGATGGGTCACAAAACTAAACATTAAACCTACAACTATAACCTTTTTCAGAAGTAAACACAGTCTTCTATCTTCACAATTGGGGGTAGCTACAGATTTCTCAGAACACAGAAAGCAGTGATCATAAAAGAAAAAAATGAACATGTTAGACTTTATCAAAACATAAAAACTTCAACTCACTGAAAAGCATCATTTAGAAAATAGACAAATCCCCAAATGAGAAAAAAATATTCACAAGACAGACTTGACAAATGATTTAATTCTAACCTCTATGATAAAAGTCCTATGGCAACAATGAAAAGGCAGATTATCCAATTTTTTTAAAAAAATTGCCAAAAATTTGGAAGAGGAACTTAAAAGGAAGATATACAAATGGTCAACAGTAGATGAAAAAGTGCTCAACATCATTAGTTATCAGGAAAATGAAAATTTAGACCTCAAACAGATACCACTTGATACCCACTAGAATGGCTAAAATTAACATCTTACAACATCAAGTGTTGACAAGGATGGGGAGCATCTGGAACTTGCTTACATTACTGGAGGGAACATAGAAATGATGCCACTCATTTGGAAAAAGATATGATAGCTTTCTATAAAACTAAGCAAACATCAACCCTATTATCCTGGGGTTTCCCCACTAGGTATTTATGCAAGAGAAATGAAAACATGTGTCTACACACACAAAGACTTGTACAAGAATGATTAAAACAGCTTTATTAATAGTGACACAACACTGAAAACAACCCAAATGTCCATCAAGAAGAGAATGGGTAATGACTGTGGTGTGTATTTATGTACATACACACACCACATACACACACATATGTATACATATGTTCTTTACAATAGAATACTTACTATTCAATGATAAAAAAAGAACGACATATGGATATACTCGGCCATATGGGTAAATCTCATAGAAGCTGGAAACAAGGTAAATCAAACTCCATAGTAGTTTTTACATATTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTCATCCAGGCTGGAGTGCGATCTCGGCTCCCTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAAGCATGCGCCACCACACCAGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTAGTCAGGCTTGTCTCGAACTCCTGACCTCAGGTGATTCACCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCAGGCCCGGCCTACCTGAAGTTTTAAAATTGGCAAAACAAATACAGTCTAAATAATTTTTAGAAAACTTGTTGCTTTTGGAGGGTATTAACTGGAACAGGGCACAGTGAAGCTTTCTGGGGTGAGAGAAAATTTCTGTATCTTGGTAGGGGTGTCATTTATATTGGTAGATGCGTTTGTCAGAATCTGTTCAATTGCACACTTAAAGTGTGCTTTTTACTGATGTAAATTATACCTAAAAATACTACCACACAAATGTTGAACTATACTTGGTTGATTTTTTTTCTTTAGTATTTGATGGCAATTCTGATACCACTTTCTGTGTATTCTAGATTTGAACAAATGAGTAAATATATTAAGATTATTGAAAGCAAAGTGTCTTACTACTGGTAAAAGGAGTTACCAAGATGGGAAGGGTTGTGCAGATCGGGGCTGAAAGTATCAATATAAGTTCTCATTTTTGATACATACCCACATTTCTTAATTATGACAACGCCTAGAAGCAATGAGCACATCCAGCACCCAAATTTTTATTTCTAAATAACATTCCCTAAATAAAAGAAAGCAGAACTTCCTAGGAAAAGGCTGATTTCAGTGCTGGAGCAAAGACTGTAAAAGGAAATCCTAGACAACCTCCTTGCACCAGAAAGGAAGGAGGTGTTGAGAGAACAGTGGACACAAATCCAAAGGACAGAGAGCTAGTTTGAAGGGATTCCCCACCCATCAAATCTGGGGCAACCTGAGCATCACAATAAATAATGGTAGTAACAGAATATAATCTACTGGGTAAAATAAGATCCATAAGTCCATATAAATAGATGATTAAGTAAATGGAGAAGAAAAACCTCTTACATACAGAAGAATGCCAGTGTAGGAGGAATAATAGTTAGAAATTCATCAATGAGTGCTAAAGCTAGTAGATAACCACTAGATAAAAGTTTAATGAGCAAAATCCTATTAATTACAAAGGGAAATAATTTTACAGGGGAGAAACTTCCACTACCTTAACCAAGTGACCAAAATTAACATAACCAGTAATGGGACAAATCAACACCATACGCCTTTTTGATGCAATGCACTGAGGGACATAACATCACTTCCGTGGCACTGCTGGCAAAAATCCATAACAGGACTTTAAGAAACCTCGGAAAAATCAAATTGGCAGACATCCTACAAATTAACTTGTCCATGCTCTTGGAAAACACCAAATCAAGAAAGAGAAAGGCTTAGGATCTGCTCCAGATTAAAAGAGACTAAGAAGACATGACAATTAAGTGCAACCTAAGATCCTGGATTGAACCCTGGACCAGGAAAATAATGGCTATAAAAGACATTATTGAGAGAATTGATAAAATTGAATATGGAGTGTAGATTAGATACTAGAATTGTATGTGTTAAATTTTCTGATTTTAATAATTGCACTATAGTTATGAAAGAGAGTGTCCTTTTTATAAAAGAAAATATGCACTGAAATTTTCTGTGGTAAAGGGGCATGATGTCTCTACCAGTCTCAAATGGTTCAGAAAAAAAACTCCACGATGATATACACACACACACATATAAATATATATTCATAAATATGCACATGTGCCTATATATACACAAACACACATAACTATTATATATATTTTATATATATGACACACCATATATATAAAATATGACATACCATATATATAAAATATATATAGATAGAGCAAATGAGTTAAAAGGTATACAGTTGCAATTGGTTGATTTGAGTAAAATATATATGGGGTCCTTTGTGTCATTTTTGCAACTTTTCTATACATGTGGAAGTAGATCAAAATAAAATACATGAGAAGGTTTATTATAATGATGGGACTGTAAATTGGGACAACTACCCATTGAAAACCATTAGGCAGTATCTACCAAAGCTAAACGTACAAATACCCTATGAACCAGCAATTTCATTCCTAGGTATTACTCAATGGAAATACATAGATATGGCCATTAAAAACATGCACAAGAATATTCATAGCAATGTTATAATAGCATAGCATTCCTTTGCGTCAATATATCACAATTTATTTTTGCATTATACCCTTAATAGACATTTAGGTTGCTTCCAGTGTAGGGCTCTTACAAACAGCATGGAAAGGTGCTGAACTTTATTAGTTACCAGTGAAAAAAAGATACTCAAACATTCACCATGTGAGCACACATTTTAAAGTCTGTCCTTTGTAGGAACATGGATGAAGCTGGAAACCATCATTCTCCGCAAACTATCGCAAGGACAAAAAACCAAATACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACCGGGGCCTGTTGTGGGGTGGGGGGAGGGGGAAAGGATAGCATTAGGAGATATACCTAACGTTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACTAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAATAAAACAAAAAACAAATTTTGGTGAGGATGTGGAGTAAAGTGAGCTCTCGTACACTGCTGGTAGAAGTATACATTGGCACATCCACTTTGGAAAACAGTTTGGTATTCAGTGTGTGAATTTGAGACAGATATCCCCCATGAGCCAACAACGCCACATCATTATATACCCCTAGACTAACCTACGCACATAGACACCAGAGTACAAGTCTGAGAAGGCTAATGGCAGTGTTATAATAGTTCCAAACTGCAAAGAATCCAAATGCTTACCCAGTAGAGTGCATTTTAAAAGTGGCATATTCAAACATCACACTGAATGGGCAAAAGCTGGAAGCATTCCCCTTAAAAACTAGAACAACATGAGGATGCCCACTTTCACCACTCGTATTCAACATAGTGCTGGAAGTCCTAACCAGAACGATCAGGCAAGAGGAAGAAATAAAAGGTGTACAATTTTTTTTTTTAAAAAAAGGAAGTCGAACTATCTCTCTTCGTGAATGACATAATTCCATACCTTGTAAAACCCTAAAGATGCCATGAAAAGGGCACTAGATCTGATAAACATAGTAAGTAAAGTTTCAGGATACAAAATCAACGTGCAAAAATCAGTAGCATTTCTATACACCAATAACATTCAAGCTGGGAGTCAAATCAAGAACACAATGCCATTTACAATGGCCACACAAAAAAATACAATACTTAGGAATACTTAACCAAGAGGGTGAAACATCTCTAAAGCAGAACTCAAAAACGCTGATAAAAGAAATTACGGATGACACAAATGGAAATGCATTCCATGCTCATGAATTGGATGAATCAATATTGTTAAAATGTTCGACCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAAGCCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCAGGCACCTATAATCCCAGCTACTCAGGAGACTGAGGCTTGAGAATAGCCTGAACTTGGGATGCAGAGGTTGCAGTGTGCCAAGATCATGCCACTGCTTTCTAGCCCGGGCAACAGAGAATCTGACTCAAAAAAAAAAAAAAAAAAAGTCATAGTGCCCAAAGCAATTTACAGATTTAACACTATTGCTATCAAATCACTAATGTCATTTTTTGCAGAATTAGAAAAAAAAATCCAAAATTTACATGACATCAAAAAGAGCCTGAATAGCCAAAGAAATCCTGAGCAAAAAGAACAAAGCTGGAGGCATCTCATTACCCAACTTCAAACTATACTACAAGACCACAGTAACCAAAACAGTATGGTACTGACACAAAAGTGGACACATAGATCAATGGAACAAAACAGAGAGCCCAGAAGTAAAGCCACACATCTACAACCAACTAATCTTCCCACCCTTTAATACTATGTATAATTATTATTTGTGTCAGGATAAGTTGAACTAGTCATTGTTGAATAGAAACAAAGTTGACAAAAATAGGCAATGGGGAAAGGACTCCCTTATTCAACAAATGGTGCTGGGAAAACTGGTTAGCCATATGCAGAAGAATGAAACTGGACCCCTCCCTATCGCCATATAAAAAATTAACTCAAGATGGATTAAAATCTTAAATGTAAGACCTCAAACTATAAAAATCCTAGAAGAAAACCTAGAAAATACCCTTCTGGACATCAGCCTAGGCAAAGAACTTACGACTAAGTCCTCAAAAGCAATTGCGACAAAAACTAAAATTGACAAGTGGGACAAAATTAAACTACAGAGCTTCTGCACAGCAAAATAACAGAGTAAATATACCACCTAGAGAAATGGCAGAAAATATTCACAAACTATGCCTCTGACAAAGGACTAATATCCATAATCTATAAGGAATGCAAACAAATCAATAAGCAAGGAACAACCTCATTAAACAGTGGGTAAAGGACATAAAGAGACACTTCTCAAAAAGAGACATATGAGTGGCCAACAAACATATGAAAAACTGCTCAACATCACTAATCATCAGAGAAATGCATGCCGAAACCACAAAAAGACACCATCTCATACCAGTCAGAATGGCCATTATTAAAAATCCAAACAATAACAGACAGTGAGGCTACAGAGAAAAGGGAACACTTACACACTGCATGTGGGAAAGTAGATTAGTTCAGCCACTGCAGAAAGCAGTTTGGAGATGTCTCAAAGAACTAAAAAGAGAACTACCATTCAATCCAACAATCCCATTACTGGGTATCTACCCAAAAGAAAATAAATTGTACTACCCAAAAGATACAAGCATACGTATATTCATTGTAGCACTATTCACAGCAACAAAGACATGGAATCAACCTAGATGCCCATCAGTGATGGACTGAAAAAAGAAAATGTGTTTCATATACACCATGGAATACTCTGCAGCCAAAAAAAGGATGAAATAATGTCCTTTTCAAACAACATAAGTGGAGCTGGAGGCCATTATCCTAGTGCAATTAACACAGAAAACCAAATATTGTATGTGAGAGCTAAATATTGGGTATGCACAGACATAAAGACAGGAATAACAGATGCCAGAAACTCCAAAGGAAGAGAAGGAGAGAGGGGGGCAAGGGCTGAAAAACTACCTGTTGGGTACTATGTTCACTATGTACATGATGGGATCAACAGAAGCCCAAACCCCAGCATCACACAATATACCCTTGTAACAAACCTGCACACATAGCTACTGAATCTAAAATTAAAATTTTAAAATAATTTATAAATGAATGTGGCATATTCATATACAAATAAAACACTGAATATGAAAGAACTCCAGGTACCTACAGTGATGCTTTGATTCAATGTATATGTTGAATCAAACAAGAAAGAAAAACACAAAATGTATACAGTATGATTCCATTTATGTAAAGTTGAAAACATGCAATGCTAAAGTATGATGTGTATGGATACATACAAATACAGTACAACTACAAAGCAAAACTATGTTGTTTTGGATGACGTATATGAGGAAAATCTATCCTCATAGAGAAATGTAGTTGTAAAAGTGAGGAGTATTTTAGTAGGTTTTTCAAATAATTGTAGGATATTCTTTGATATCACTCTGAAACTTGACAAGTGATAGTTGCTTAAAAGCTAGTGGCACTGTGGAATCTAACATGACATCAATGAACATTTTGTACTCTGTTACTCTAAAATCCATTGGTCTAGCTTACACTTCAAATGAATCTTTTATTCATGCATAATTTTGCTACATCATGCATTAGTCATCTGGAAAACATTAGCTTGCTGAGTTATGAAACTTTTTCAAATGTTGACATACTATATATTATGCAATATCAAAAATCACATTCACTAATATTACCGCCAATATTAATGCAGAATTTAAGTGCTGGTAAGCTATTTAGGTCATGTTTTAAAGAATATGAATGTTGACTGGAAAGCAACAAATGGTATTAATTGTTTTAACTGAGAGACTTACCCTCATCATTTTTGAAAAAAAAAATCTTTGCCATATAACAAAGTCTGAGTAAACATAGTTTGTCAGTCATTCTTTCAGGTAAAAGTGGTGTTTCATGGAAAAGGGGGCCAGTTCAGCTTGCAACTGAAACAACTGCACAGATGGTGATTTCGTTTTAAGACCACCATCATCATATGCAGCAGAAGTGCTCAGAATATTAAAACGACTTGTAGTCAAGGGTCAATATTTAATAAAATGAATCATTTTTACTGTTTCATCAGGGACATTACTAAGGGAAATTAGCATTTACTTTTACATTGTGCAAAACAGTGAGGAATACAATGACTAATGGCGCAGTTTGATGCCACAAGCTTGATTCAAGCTAAGGTGCCAGCAGTTTTACCACCATTACTTCTTGTACCATGGCCCAAATGTTCACATAGTGAAAAAGGCAAATGACTTTTTTTTTTTAAGCAAACTCCCAAAAAAAGAAATCTCCAGATCCAGGCAGTGTCACTGAAGAATTCTACCAAATATTTATTTATATTTCCATAGGTTATTGGGAGACAGGTGGTGTTTGGTTACACGAGTAAGTTCCTTAGTGGTGACGTGTGAGATTTTGGTGCACCCATCACCCAGGCAGTATACACTGTACCCTATTTCTAGTCTTTTATCCTTCACCCCCTTCCCACTCTTTCCCCAAGTCCCCAAAGTCCACTGTGTCATTCTTATGCCTTTGCATCCTCATAGCTTAGCTCCCACTTATGCATGATAACATACAATGTTTGGTTGTCCATTCCTGAGTTACTTCACTTAGAATAATGGTCTCCAATCTCATCCAGGTTGCTGCAAATGCCATTAATTCATTCCTTTTTATGACTGAGTAGTATTCCATCATATATATATATATAACCTGTGAGATATATATATATATATTATATATATATATATATATTATATATATATATATATATCTCACAGTTTCTTTATCCATTCCTTGATTGATAGGCATTTGGATCAGTTCCACATTTTTGCAATTGAGAATTGTGCTGCTATAAACACACATGTGCAGTTATCTTTTTTTGTATAATGACTTTTCTCTGGGTAGATACCAAGCAGTGGGATTGCTGGATCAAGTGGTAGTTCTACTTTTAGTTCTTTAAGGAATCTCCACACTGTTTTCCATAGTGGTTGTATTAGTTTACATTCCCACCAGCAGTGTAGAAGTGTTCCCTGTTCACTGCATCCATGCCAACATCTACTATTTTTTGATTTTTTTGATTATGGCCATTCTTGCAGGAGTAAGGTGGTATTGCATTATGGTTTTGATTTGCATTTTTCTGCTCATTAGTGATGTTGAGCATTTTTTCATATGATTGTTGGCCATTTGTATATCTTCTTTTGAGAATTGTCTATACATGTCCTTAGCCTACTTTTTAATGGGATTTTTTTTTCTTGTTGATTTGAGTTCATTGTAGATTTTGGATATTAGTCCTTTGTCAGACATATAGATTGTGAAGATTTTCTCCCACTCTGTGGGTTGTCTGTTTACTCTGCTGGCTGTTCCTTTTGCCATGCAAAAGCTCTTTGGTTTAATTAAGTCCCAGCAATTTATCTTTGTTTTTATTGCATTTGCTTTTGGGCTCTTGGTCATGAAATCCTTGCCTAAGCCAAGGTCTAGAAGGGTTTTTCCAATGTTATCTTTTAGAATTTTTATAGTTTCATGTCTTAGATTTAAGTCTTTAATCCATCTTAAGTTGATTTTTGTATAAGGTGACAGACAAGAATCCATTTTCATTCTCCTACATGTGGCCAGCCAATTATCCCAGCACCATTGTTGAAAAGGGTGTACTTTCCCCACTTCGTTTTTGTTTGCTTTGTTGAAGATCAGTTGGCTGTAAGTATTTCGGTTTATTTCTGGGTTCTCTATTCTGTTCCATTGGTCTATGTGCCTGTTTTTATAACAGTACCATGCTGTTTTGGTGACTATGGGCTTATAGTATAGTTTGAATCATGTAATGTGATGCTTCCAGATTTGCACTTTTAATATTATTATGAAAATCATTTTGACATTGTGAACCTCCTGAAAGCTTCTCAGGGACCCCAGGGGTCCACAGACCACAGTTTGAGAACTGCTGGAGTAGGGGTATGAAGGAGGTTCTCCTGGAATAACTGGTTGGTCTCCTTATTAGTCTAGTTGGCTGGCACAGAAGGAAGACGAAGAGAGTGAGAGAGACAGAGAGAGAGAGAGAGATGGTGTGTGTGTGTGATTATGTGTGTGTTCCTCTGTGTTCGTGTGTGTGTGTGTGTGTGTGAAAGAGAGAAGAGAGATAATTCTATTTAAGGAGGAGAGAGATGAAGGGAAGGTGGGAAGAGGGGAAGTGAAGGTGGGAGAGAGAATAAGGGAAGATAGGAGAGAGGGAAGGAGGAGGAATGGAAGGAGGGGGAAAGTGAGGAAGTATTAATAATATGTGGCATACATGGTTTTTTAGCCTGATGGTGCCAGAAGCATTTGAAAACACAAGAGAACTTCTTCATATATCTGAGGGCGAGCTAGAATGCTACAGGGTGAGAACTCTCAATGGGGCCTTTCCTGTCCATTAGTATCAGATAGGAAGCATCATGTAAGGAAAACCTAAACTGTGCAGTCCTTAAACAAAAGTGCTAGTCTTTGGCTGGGCACGGCAGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATTCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGCTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGTGGAGCTTGCAGTGAGCAGAGATTGCGCCACTGCACTTCAGCCTGGGAGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAGTACTGGTCTTCAACGTCAAAGAAATTTTCAAGTAAGAATGGTGTTTTCACTGAAATGCTTCTCAATCTACCTTCGAGCTTTGGCCTTGCCTGTTTGCTTGTTTTCCACCCAGTGGCGGCCTAGGTCTGTTAACAGACTGGCAGCCAGGCAGGCAGCAAGGCAAACAGGGGGTGTGCAGTGGCTGGTGTTGTCTACCTGGTGTCCGCTAGAAAGGGGTTATGGGCTTAAGCCTTCTGCAAAGGCGTATCATGAGTCACAGAGCAAGGGAGCAGAGCTGAGGACTCCAGCCTCACCTCCAGTGGGGACTCCGCTGAAGATGAGCCCAGCTGCTGCCCCTTGCCCAGTCTTGCCCCACTGGCCATGGAGTTAGCTGTGCCCAGTAACACTTCAGCGCCTGTGGACACCTGCTTTCAACTTCCACACCTCTGACTAAGGGCCTGTGGGTCCTCTGTTGCTTTTTCTTTCTAAACACAGAATAACTCTTTTACAGTGTATCTTTCTTTTTATTTTGTAGTTTGAGTTTTACATTATTACCATTCATCATTATTTTAACTTCTCTTTACTTATTAAATTGGAACAGGGATTTCTCCTGCAAACAATAATTGTGAGAATAATGTAGACATTAAAGAAAACCTTTTTGTTTCTCCTCTCAAGGTACTTTTCAGGGCCCTGGAAATGTCTATAAGACAGTCTTGCCACTGTGGTCCCAGAGAAGGCCATAAAGTCAGTGCTGACGCACAAAGTCACTGTCCTCGTGATGTAATCAACTATGGCCTCAATGCTCCATCCCCCAAAGCTAACATGGCCAGGGTGACAGAGACAGGGCTGCCCTCTCATCCATTCACTGGGTCCTTTCTGAGGACAGGAATGCATAAAAACCCAGTGTACCCAACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTGCTTTTAGTAACTCTGAACCAGCTCAAGTTAAATAAGAATATGGGGATAGCCTATGCAAGATAAATAAATTAGATGAAATCAGCTTACAATTTACCATTATTTGGAATTTTGACAAAACTTCTGGCCTCACACCAGCTACTGCGGACCTAACAACTACTCAGCATCCCTCTTGCTTCTAAGGAACAGTACGCACAAGAAAGCAGTAAAGATTGTATACTGGGTATGTGGGGGCCACCGAAGTTGCTCCATGACATAGAAATGATGGCAGGAAACCATCCTCTTCCTCAAAGCAGGAGATCTCTCCTGTCTCCTCGGAGCCACTGGAATGCCACTGGACTGAGCAGGGTTAGATGGCACAGGCACACATCACATGGAGGCTCTTTAACCTCTGTCCCTGTCCAGATGAACCCAACTTCACTGTGCTGTCATATCCACTCCCATACCCCAGCTCCTGCTTTTCTCTAAGGCAGAGGCAGATCTCATTAATCCTGCACCTCCTGGTGCTGAATCTCCAGGGATCTTAAGTTGGAGCCCAGACAGCCAGGGATCTAATTCTAACCCCAAAGTTTGGGGAAGTTACTTCATCTCTTCTTTTATACAATGTGGATGGAAATGGCGCCTTCCTCATAGGGTTACTGCAGGGATGAAATGAAATAATATATATATTATATATATATATACGTTTATATATATAAAGGGTTCTTGGCACAGAGAAAGGACTTGCTAGAGGTTAGATCTCACTATACCACTCCTAGTACCACTGCTACTGCTACCACTTAAACACAATGGTCAAGAGGACAACTGCAATATTATTTCCAATAACCCCAGAAATACATAAATACATAAATCAATGTAACAAGGAGATTTGGGAGCCAGCCCCTGGACATTACCAGCCAGCCGCAACGTATTCCCATGTATTGTATTCCCATGAATTGTACCATGGGCAACCCTGGCCCTAAGGAGACAAAATCTCTCTTCCAAGACACAAACCCACAGTCACTAATGAAATGTCAATTACATTTCAAAGTGTAATTGTGGGTCACTTTCATCTGGACAAAGCAGTTTATATGGTAAATTAGAATTTGATAAGGAAGCCCTTTAAAATAATTCTATAGAATTCTTTGAGCATTGTCAGTGCCTTGAGTAAACAAATATTCCACAAAAATTAATAGGAGGATGTGAAGAGGCTTTCACAAATGAGGTTGACCCACTGATGATCGTTAGAACAGATGTGGCAAGATCTGTGTCACCCCAAAACAACGGCCAGATTCTCACTTGAACAAGCATAACAATATTCAATGCTAGGTAGTTTGACATATTTTAAGGGAACTCACAAAAATAAATGTCTTCGATTTTTATTTCATATGAATCCTAAAACGTAGGTTTTCATTTACTTTTAATGTTGACAAATTATCAAAATGGACTGAGGGACCTTAAAAGTCATGTAGTCAAAGTTCAAAAACTGCCTCAAGATAGCTACCTCCTCTTAAACACATATAAAACTGTAGAAATGGATAGTATCATTTAGATAAAGGGAAATACCAACATGTCTGTCACACACACACACACACAAAATCAAACACACAAACAAGCAAAACAGGAAACAATAGTGCCTTCCTGCTAAGCATGTGGTCATCGCCCTCTGGGCACACAGCCAAGAACGGCCCTGCTGTGTAAGTCAGGAGCTTCAGCTGGTCTCATTCTACTGAGTCTTTCTCCAATCTGGGCCTTTGACTCTAAAATTAGCAGGTACGATCACACAAACTCTGCAGAAACCTCCCTTCCCCGACGCTCTTCTAACTGCATTTTACAAGCATCCCACATCAGTGCCAGAACTGTATTCTCCTCTCTAGCTATGGGAATACTGCTCGAACCAGAGAGCAGACATGGTCATTTATAAAGACTATGACTTGCATTGGAACATCACAAAACTAATATGTTCTAAAAATATATAGCAATCAACAATTCACCCATAGTGGGGAGGATTATTTTGCTTCAGCTCAAGACTTTGCCAAGCTCCAGACCTGGAGCTAATGGCTTCTTTGACATCTCCAACTGGATGAAGCACAACTTCCTCAAACTCAACACGACTCCATCAGAAATCATCAAATCTCCACTCAACGCTGCACCCCACCCAGTATTTACCATACAAAAAAAACTGGGGAGCTTTTTTAATGTCCTGATTTAGCCTGGGCTTCAACCACAGTGATTTTGATGTAATTTTGATTTTGATGTCTGGGATGCTATCTAGGCATTGAAGTGTTTTTCTGACCTGCCCCCTCCAGGGTTTAGAATCACTGCTCTAGATATTTTAAATCCCTAATAATTTAATGGGTCTACACCTCCTCTCGTGGGTTGTCAATCTTAAAATGCTCTAAGATTGCTATAACCCTCCACCCAGGGACACTGCAGTCCATATCAATGTGCCATTGGGAGCTATGCAAGGCAGCAGCTCTGTATTTCCAGGCCTCGAGGTCTCCAGCACTCCACGCTCTCTTGTAGCAGCCATCAGCTCTGTCTCTGTATTAGAATCACTTGTGCATCTTTTAAAAGACACTAATGCTCAGAGATCCTGAACCAATGGGCTTGAATCCCACTGATAAATTTTTTAAAGGTCCCCAGGTGACCATAATATGTGGCCAGAGTCAATTACCACTTATTTGGCACCTACCCCAAAGAGAACTACTAATTTCTGCAAGGTATCCAATGGCCATGTGTGCATGAGTCTGCCCTTCTCAGGGCCTACATTCTGCTAATCCTGTCACTTCTCACACTTTCCTCCTTCTGAGTCCTGCTTCTTTAACTGCCTCACCTAATAGATCGTGGCTTACCACATTGGCATGCATTTTTGCCTTTTCGTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGATGGAGTGCAGTGGTGTGATCTCAGCTCACTGCCACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGATACAGGCGTGCACCACCATGCCTGGCTATCTTTTGTATAGTAGTGCAGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCTGCTGCCTCAGCCTCCCAAAGTGCTGGATTACAGGCATGAGCCACCACACCCGGCCAGAGTCATGCTTTTACACATAATATTCATGCTTTGTCCATGCTTCCCTCTACTCTGCATCACTTACTCTGGACTTGTACCAAACCTGAACATCACTGGAAAAAAATCTTAGAACTCTGATGACTAGGCTGTCTTCAAATTTATATCATATAGGCACTGAAAACTGCTAAATTGTTTTATTTTCATGGAAATTTCACTTTGTTATTCCCCAAGATGACAATTTCATACTTTTCTGTTTTTCTCAAATTTCCAACAAACTCTTTCCCTTCAGTCTCCCTTATAACTTTGCTACCTACTCCACACAGTGGTCTAATGGAGAACTCTTGATCTTCCCTATCATTATTCTTCAGCTTCTGTACCCTCATCCTTCATCCTTCTCTCACCTTACCTCCCTTTGGATGCTACCCTCCTCACCTGCTAAAAGTTACTAAGGGACATCATCCTTCCAATTAGCCCTGATTTCCACTGTTTCATCACTTCCTTCTTCTCTATATGAGATGTTTTTAAGTTGCTCATCTTAAAAATCAACTTCATATCTCCCTCCAGCTACCAATCCTTTTTATGCTGTCCTTTATAGCAACAATCTTTGAAGATTTATCTATACTCTCTGTCACCAAATGCTCACTTCTTCTCCCTTCATTTTATAAAGATACTTTCACTGGAATTAGAATTTTAGTTTTGCAGGGTTTTGTATTGAACACATTGAAGTTATCTTCCGTTGTCTTCCAGTTCCCAGTGTTGCTGTTAAAAGATATCCCATATTCATGGGCCAGAAAATGCAATGTTGCTAAGATGGCAATACTCCTTAGATTAATGTACAGATTCAACCCAATCCCTTTCAAAATTCCAGCTGGCTTTTTTTTCAGAAATTGACAAGCTGACCCTAAAATTCATATGGAAATTCAAGGGATTGAGAATAGCCAGGATAATCTCGAAAAACAAAGGAGGACTCACATTTTCTGACTTTAAAATTTATGATAAATCCACAATAATTAAGATAGTATGGTATTGGCATAAACCCTTGCATTTATGTCTGGTTGATTCTTTACAAGAGCAGCAAGATAATTTTGTGGGGAAAGAACAGGTTTTTTTGGGTTTTTTTGTTTTTTTGTTTTTTTAACAAATAATGGTCGGGCAACTTAGTATCCACAAGTGAATGAATAAAGTTCTATCCTTACTTCACACTGTACACAAAAATTAAGACAAGATTGATCATGAGCCTCCTAAACCTAAGAGACAATAGCATAACAACACTTAGAAGAAAACATAGCAGTAAATCTTTGTAATCTTGAGTTAGGCAATAATTTTGTAGGTACAATAACAAAAGTACAATCAACAAAAGAACAGATAAATTGAACTTCATCAAAATTACAAATATTTATAGTTTTTTCTCAAAGAACACTATCAAGAATATGGAAAGGCAACCTACAGAATGGGAGAAAATATTTGCACAATGTACATCTGATAAGGGACTTGTATACAGGATATATACAACTCAATAATAAAAACACAAATAACCAATAAAAATGGACAAAGGATTTGAATAGATATTTCTCAAAAGAATACATAAAACCAGTCAATAATCACATGAAAAGATACTCAACATCACTAGTCATTAAGGAAAAGCAAATCAAAATCACAACGAAATATAACTTCACACCCACTAGGATGGGTATAATAAGAAAGACAAACAATAATAAGTGTTGACAAAGATGTGGAGAAACTGGAAATCTTATACTCTGCTGGTAGGAACATAAAATGATACAGCTACTTCAAAAAATAGTTCAGCAGTTACTCAAAAGTTAAGCATAGAATTCCCATATGACCCAGACATTCTACTCCTAGGTATATACCAAAGAGAAATGAAAACATATCTGTATATGAATTGTCATAACAGCATTACTCATATTAGCCAAAAGTAGAAAAACCCAAATATCCATCAACTGATTAACAGATACATGCAATGTGATATATCCATACAATTGAATATCAATCAGCAATGAAAAGGAAGGAAGTACTGGTACTTACTACAACATGGATGAACCTTGAAAACATTAAGTGAAAGAAGCCAAACACCAAAGATAATATATTATATGATGCCATTTGTATAAAATGCCCTGATAAATCTGTAAAGACAGAAGATAGATTAATGGTTGCCTACAGAGGGGGGCATGTGTGTAAGTCACTGGTAATGGGTAAGAATTTCTTTTTGGGGTAATGAAGTGTTCCAAAATTAAATTGTGCGAATAGTTTCATATATCTGTGAATATACTAAAAATCAATAAACTGTACTTTTAGTGGGTGAATTATGGTATGTGAATTATATCTCAACCAAATTGGTTTTTCAAAACTAACAGTAAAATCAATGATGTGGTAGCAATTCTGCAGTGGCAGGAGTGGTGGCCACAGCTTCCAGGCATGTTCCTAAAACTCTGAGGGAGGGGAATTCTCCTCTCTGCCCACAGGAGCTGTGGTCTCAAGGGCTTGGAGCAAATCCTCATTGCTTTTTTTCTCTGTCCTCCCACCATTTAACCTCCACACAGATAAAGTCATAAAGTACAAGACAAAGCAGGGACACTAAAGCCCTGGCTATCTGATCAAAGGACACTGAAAGGAGCATAAAGAACCAGAAAGACTGTGAAGAGGAGGAGCTCAAGAAAGTAACCCTGTAAAGGGAGGTGTGATCTTCTGGCTCACCTCTGAGCTGTGCATGCACGAATCTAACCCTAAACAGTACACCAAAGGCTTTGATTATAGAACTATAGGACTAGCTATCATCCAGGTCCCAGGCTTGCCACTGAGTGGTGCGTAAGCTATAGAAGGATCCAAATAGCATAGCGAAAGCTCTGAAAACAGACTCAACTTTGGAACCACATCCCTGAAAGGGTCAGAACTTGAAGCCTGAACCTAGCTATGTAGATTGCCTGATAAAACAAACAAAATCAATATTCTCCTTATGATAAGACATAGAGTCTGATAACGTAATATTCCAAATGTCCAGGATTCAATCCAAATTACTTGGTACACAAATGACCAGGAAAATCTTTACTACAAGAAAAGAGAAAAACAACATATGCTACTCCGAGACGACAAAAATATTGGCAAAAGCAGACAAAAGCAGCTATAATAACCATGCTCCAAGACGTAAGAATAAACAAATGTAAAGACAGAAGTCAGCCAGGTGCGGTGGCTCACGCCTGTAATCCCAACACTTTGTGAGGCTGAGGCAGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGGTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAGAATCAACTGGGCCTGGTAGCATGTACCTATAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGATGGAGGTTTCAGTGAGCAGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCATCTCAACAACAACAACAACAACAACAACAACAAAAGACAGAAGTCTCAGTAAAGAAAAAAGATATAAAGAAGAATCAAGTGGAAATTTTAGAGATGAAAAATACAATAGCTGACATGTAAAAAATGTTCTTTAGATGGGTTAAATGGCAGAATGGAGATAGCAGAGGAAAGTCACTGGACTTGAAGAGAAATCAATAGAAATTATCTAATTGGAACATCGGAGAGAAAAAAATGAAAAAAATTAAGAGACTCAGGAAACTGAGGGAAAGAATTCAAAAGGTTGAACATTTGTGTCACCAAAGTCCCAAGAAAGGAGTAAGAGTCTGGTGTGGAAAAGAAAATTTGACAAACGGTGGCTGAAATCTTCCCAAATTTAGTGAAAGACAAATTTATAGATTTAAGACACTCAGGGAACCCCAAGCAAAAGAAAATAAAAGAAATCCAGGCCCAGACAAATCATAATCATGTGGCTGAAAAACCAAAGACAAGATTTTTGACAAAAAGCCTGAATACAGCAAGGAAAAATCACCGCATTATAAATAGGAGAACAACCCTCTGAATGACTGCAGAGTTCTCATCAGAAACCACAGAGGCACAACATTTTTAAAGGAATGAAAGACAAGAACTGTTAACCCAGAATTCTATACTAAGTACAAATAATCTTCAAGAATGGGGAGGAAACAAAGATATTCTCAGATGAAAGAAAATGAAGAGAATTAGTCAATGGAGCTGCTCTGAAAGATATGTTAATGGAAGTTTCTCAGACAAGAGTGACACGGGAGGGAAACTTGAAACTTCAGAAATAAAAAGCAACAGAAATGGTACATATATGGATAATATAATAGATTCTTCTCATAATTTTTTTGTTACAAAACCCCAAATAATTTTAATCTCAATTTGCAACATAATCCACATTTTACATATCTATAAGCAATAGAAGTTTTAGTATACAAATGCCTTAGAAAGAATTCAATTTGGTCCAATAATTTTATAGCCAGGATAAAGTCATATTTATAATTCATAATTTTCTGTCAAGGTTTTTAATAAAAATCAGTAATGTTAAATGGAACACTATCATTTTATAGAGGAATAGTATGAAATTACATTGAGAAATGAGAATAGTCATTAAACATTAAGATTTTATTACAACCCAGGCATTATATATTTCTTTACACTTAAGGAATAGATATGAAACAATCTTGAAGTAAAAAATAGAAGGCAACTTGCTTCAAGTTTGTACCAAGTCAATCAAGCAGAAACTGAAGAACCTTGTTTTAAGATGAGAGTCATTTATACTTGGCAAGCGTTTTCTTCCAATGTAAAAATAAAGTCAATGTGCCATTATCTTGACACTTATAAAAATGTTTATAAAAAGCATTTAGGCCATTGATTCTCACAGTTGGATGAATATTGGAATCACCTAGATTAAAAAAAAATACTAATCCCTATACAACATCCCCAAAATTCAGATTCAATTAGTATAAATTAGGCCCTGGGCATATAGGCTGTTTTAAAACTCCTCGGGTGAGTCTAACGTGCACCAGTTTGAAAACCACTAGCTTAGAGACCTGTTCCATCATCATAGAAGTCAGTCTTTAGCTGAATGATTCTATATGCCCTGATTTCAGTGGGTAATGTTGTTATTTTAAGCATCTGATAGGTGTATCTCCCTTGATTAAAAAATAAATACCTTATGGAAGAGATTATATGTTTTATTTATCATTGTCTCCGCATATCTGGAATAATGAAAGGCACATAGCAGTTGCTAAATAAATATCTTTTGAATGAATATATGATTGCCTTATACTTCTTTTACATCCTCATCTTCTAATAGATTATGAAAATTAGAATTCAAAATATATATATTGAACAAATGAATGACTGAAGCAGTTGGGGATAATATTTAAGGCAAAACCAAATCTGATAAAATATATACATATTTTAAAAACACATACATATATATATAAATAGATCAAAAGTGGAAAAAGAATATATAGAAGAGTGCAACATTTGGCAGCTGAGAATTATTTCATTGAGTTTTCAAATATTCTTCACATTCTTATACTTAGAAACAAAGAAGTAACCCCAAACAACTAATTCATTAGCTAATATCTCAGAACTTGCACATGTGCAGATAAATTTTTTTTAAAAAACAGAATTACAGTTTAATCCCTAACACAGCTCAGTTTTCAAAATTCAAGTAAATAAAATTTTAGCACACATCATGATAGCCTTACTGGATAGCTGTGTTAAAAACAAAAAGTATATGTTATGTGCTCTCAATTGAGATCTAGTTAGTTTCCTAGGAGTCTCACATTGATAAACATCTATTTTGGCACTACCTTACATAATGTGTTTATTTAGAAATACCTTATTAATGACAGACTTCCTTTTGAGTAGCTACATTCTCAGATATGGCTTCATTTATCAAAGTTCCACAAGTATTACATACTTTTTAATTCAGCTAGTATCTTAGACTACAGAACTTTGGTTTTCTTAAAATCAGCATTGGTTGCTTGATTGTAGGTTTGTCACCAAAAAGTGCTGCTTCACTCTCCATGGTTGGAAATCTTTTCTGATATATCAAAGGATATTCCTTCTGAAACTATTTTAGTTTTTTTCTTTTCTCCTTTAGAGGTAAAGTCCTGTTTTTAACAATATTTTCTAAAAGTTCTGCAATTGCAGCTTGAGAGGTAGAAATTTTTTGCTCATCAAACTCCTGAGCACTAATCTGCTTACCGTATGAGTAAGTTGGCAAAGGAGCAAATAGTCCATCTCCAGGACTTTCAATATGTCCCCTTTTTAAGTAGTCAAGATGTTTTTCCACTGCAGTCTGCAAGTAAGAGGGTACTTGAAGAATTTCCTGATCATGATCCATTAAGAAAGAAACTAATCTTCCAGCAAGAAGCTCATCAAGGTCCACTTCTTCAGCACAGCATAACACACATTGAGAAACGGTATGTATCAACAGTGATCTCGCACCCATTGCATCATGAAGTTTGGGCATATCAACATTTTGACTCATTCGGGAAATCATACGCATTAAAAGTTGAAGCTTTCTATGATTTGGTGGGGGAAATAACAAACAACATAACTGTAGAGCATCGATGGCAACCCTCTCTAAATGAGGTTGCAGCAAACTTTGTGTGCCAGTCAACACAGAAGAAGCTGGAAGTAAAGAGTCTTCTGAAAGTTCTATTGTACTTTTGCAGAGTCTTTTATTGATTGTGGCACTAGACTCTCCAAGTTCACTTTCCATAGCTGTTTGCACACTTGTGCTGCCTTGTCCAACATTTGGTTTCATGGTAATTTCAGCCACTGGTGTATTGATAATAACTATTCCTTCTTGTACTACTTGTTAAAAGCAAACTCTGAGACCTTCAAAGCTGTTCTGACTTGCATTTCCCATTACACAACTCCTCTTGGTCTTGAACAATCAAAGTAGAGGTTCTCTTAAAACCAGCACTGAATGGCTTTTGAATATTTTCCTCTGAATGAAGATTCAACAGGAATTCCTGTTTGGGCTTAGACTCTAAAAACAGTTTATTATTTTGTCCTTCTATGTTCGGAAAAGATTGATGGAAGACACTGGATGCCTCTTTACTTGAATTCCCTGACACATCTACAATTCCTTCCAAAGAATAGCACCTTGGTTTGCTGTTAGAGGATAGATCACGCATACTACTTAACCCTATTAAATTATGACAACTTCCTCCCATTATGTCATTAGCACTCACTCTTCTGTTTCTTAAATTAACTAGCTGCATTTTCTTAGCACATCTTTCTTGAAATCCTGGATTGCTTATCTGTAGTCTCTCAGTAGAATCTGATTCTTCTTTATTTTTTTTTCTCTACGAAGCAGACTGAGAAGGCGGCACTCAGTTGATTTGAAGGAACTCAAATTGTTTAAGTGAAGGAATTTTGAAGACTGGGGATCATCTTGGATTTTATGTATCCCACTGGATCTATCTGAAACTGTTATGTAGCCACAAACAACTACCACGAAATGAAACAAAAATGAAGATGCAACCAAAATGTTCACAAGTAATTCGTAATATTCAAAAGTAAGTAGAGGTTCAGGGAGATCTAGAAAATAATCTGTGATTGTTCTGAATACATGTCATTCAAATCCAACATAAGTTGGATTATTCATATCATTGCTTCTTGGCCAATTTGCTAGGCACTTCATGGCAGATAATACCCAGTGAGGGAGGTCATCTGATTTGTTTTGTAGTATAACTACTCCATGTTTACTTGTATTGGCCCCATTATATATTGGGGAATTACTTGTTTTGGATTTATGACTTCTTCTAGGGATGGCACACCTAAAATAGTTTGCAGGTAGATCAGAATAAAATATCTCCAAACTTCTTCAACGTCTTCCTGGCTTAGTTCTCTATCATCAACTGCATTTTCTTGATCTTCATTTATTATTTCATGTTTTATTTTCTCGGCATTTTCCTGAGATAAATGTAATCCATGCTTTTCAGCAGTTCTACGAGATAAGTTTTGTAATTTAAAAATACTATCTTTATCTTTGGAAAAGTTCTCTATGCTGTTTTTTCTCAATTCTGGATGCCTTCGTGGTAGAGTTTTAAGTGGCAACGTTGCAGGAAATCTGAAGAGCTGGTTGTTATCATCAACATTTTCTGATCCCCACCTCCCTTTGATATCTTCAATTATACGATTCTTAAGAAATTTCCTCAACAGTTGTTGCCTTGTAACTTCAGGACCAAAATTGCTATTATTTCTTAATAGGTCATAAAGCCAATCCCCTGCTTCTCCTGCTGTGAAACAATTGCCATATTTTTTAAAGTGTTGTCTGTGTTTTCTTAGAGGCATTCCTGCTCGAAAAGATGTGGTAACTTCATTCCACAGCTTGGTGGCCCGATAAGGCCCGGGAGGCACAACCCGACTCTCCACAGGTCTGTCAGCGTCCGGTGGCATCCATGGCAGTGTAGGTGACACTCAAGACCCAGCAGCCCGGGCAGCGGCGAGTCTCGGCACAACCATTGGCTCTGCCGCCAACTTGTATAGCATAGAGGGCTGCGTGGATTGGCCTCACAATTTCTATACAATATCTATAAAGTAAAAGTGATGCCAGGCATGGTGGCTTATGCCTGTAATCCTAGCACTTGGGGAGGCCAAGCCAGGTGGATCGCTTGAGCTCAGGAGTTTGAGACCAGCCTGGGCAACTTGACGAAACCCTGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCACATGCCTGTGGTCCTAGCTACTCGGGAGGCTGAGGTGGGAGGCTCACTTGAGTCTGGGAGGCAGAGGTTGCAATGAACCGAGATCGTGCCACTGCACTCCAGCCTAGGTGACAGAGACCCCATCACAAAGAAAAAAAAAAAAAGTGATAACACTGGTGGCACTTTCGGCGTCTGCAGATGTAATACATAAGACACCTACAACATAAAGGGGGTGAAGTAAAGGGACCTATATGGTGGTAAGGTTTCTACATTCCATATTGAATAGTTAAATGTTGTTCTACACAGACTGTGAAAAAATAAGTATGAATATTGTAATCTCTAGAGCAATCACCAAAAAGCATACAAAGAGAATATAAAAACAGAAAAGTTAAAATAGAATACTAAAAAAATTCAAGCATCCCAAAGATAGGAAAGGGGAAACAGGTACAAAAAAGAAAGAACAAACAGTAAACAAATAACAAAAAACTGTCCATCTAAGTACAAACAAATCAATAATTAAATGCAAAGGGCTGAAATATGCCAACTAATAGACATCGATTATTGGAATGAATTTAAAAATAAGACTCAACAATATGCTTTCTCTATGAAATCCACTTTAAGTTCAACAAAATACATAGGTCAAAAGTAAATGATGGCCAAAGATATGTCATGAAAACATTAATGGAATCAAAGCTACAGTAGTTCTATTAACATCAGATATATTGTCATCAGATACAGTAGACTAGAACAAGGGAAATTCCAAGGATTAAGAGAGATAATATGTAATGATAAAAGGTTCAATTCACCAAAAAGAAAAAACAATCCCAAATGTGTATGCACCTAACAACAGAGCTTCAAATTACATGAAGCAAAAAATACCTGGAATACAGTTGGGCAGTTTTTAAATAAAATTAAACATATACTTACGCATGACACAGCAATCTCATTCATAGATACTTATTCTAGGGAAATGAAAACTTAGTTTTCCCAAATGCCTGTTCACGAATGTTCATAGCCACTTTATTTGTGATAATCCCAAACTAGAACCTCCCAAATATCCTTCACAGTGTGAATGAATAAACAAACGGTGGTGCATCCACACAATGACATACTTTTCAGCAATAAAAAGGAATTAACTATTGATTTCACACAACAAGGATAAATCTCAAATCTGCTATGCTGAGTGAAGGAAGCCAGTCCAAACATAATACATAGCATATGATTCCATTTTTATGACACCCTGAACATAGCAAAACTATAGGGGCAGAGAGCAGATTAGTGGTTGCCAGGGGTTAGTTAGGAGTAAAGGAAGGGCTCACTACAAACGGGCAGCTTGGGGGAGTTTTGCCAGGTGATGAAATTGTTCTGCACACTGATTGTGATAGTGGTTAAATAAAATCTATATGTGTGTTAAACTCAGAACTATACAACAAAAAGTCAATTTTGCGGTATGCCAATTCAAAAAATAAAATTAAAAATGTAACTATATTAGAAAAGACAGGTATGAAATTAATAAGCTAAGCATCCACCTTAAGAAACTAGAAAAAAAGCAAGCTAAACACAAAAGCAGAACAATGAAAACAACGAAGACCAGAACAGAAAACAGAAAAATAAAATATCAAATGGTGGCTCTTTGGAAATATTAACAAAACTGACAAACCCTTAGTCAGATTACCAATAATTCAAGAGAGTACAGAAATCACAAAAATCATGAATGAAAGAGGGGACACTGCTATCAAAACTACAGACACCAAAAGTATTAATTACATGGGAATATGAACTACTTTATGTAAAAAAGTCAGAAAACTCATATTAAGTGGACAAATTCTTAGAAATATACAAATTACCAAAGATTATACAAAAAGAAAGTAGAAAATCTGAATAAATCAATAACAAGCAAAGGAATTAAGCTGGTAACAATACTCTTCCCACAAAGTAAAGTCCACCCTGAAATGGTGTCACTGGTGTATACTACCAAGGACTTAAAGAAAGTATAATATTAATCCTTCACAAATGCTTTCATAAAATACTGGAGGAGGGAACACTGCTCAACTTATTCTATGAAGTTAGCTTTAGTCTGATATCAAAGCCAGACAAAGAAAAGAAACTATAGGCCAATATCCTTCATGAACACAGACATAAATGGTCTTAACAAAATATGAGCAAACCAAATTCAGCAACATATTTAAAAAGATACACCATGACCAATTTGAATTTATTCCAGTAATAGAAGGTTGGTTTATCATTAGAAAATAATGATATTATGTTAACAGAATAAATGAAAACGCCAAATAATAATCTCACTAGATACAGAACATACAGGAAAGCCTTTGACAAAATCTACCATCTATTCATGATAAAAAATTCTCAACAGATTAAGAATATAAAAGGACTCCCGCAACCTGACAAAGGGCATCTTTGAAAACACACAGCCTATATCAGACTTGACGGTGCAAGTGTGCATGCTCTGCACCTACGATCAAGAGCAAGGCAAGGATTCCCTGCGCTTGCCCCTCATGGTCCACATTGTACCAGAGGCTCTGGCCAATGAAATAAGAACAACAAATTAAAGGCATACATATTGGAAAGAAATAAATCTCAACTGACTTTACTCACAGATGAGTTTTTTAGAAAATTATAAAAAATGTACAGAAAAATTACTAGAACTAACACTTGAGTTTAACAAGGTCATAGAAGGGTAGATACTGAAAGAGGAAGAAGAATGTTTCTGTTCAGCTGCTTATGTTCTGTTTCTTGGTCTGGGTACCGGTTTATTGGACTATCTATTTGTCAGCTCCATTTAGATGTCTATCTGGCATCTCAAACTTAATATGCCAGATAGAAATACCGACTTTACTTTCAAATCCACATCCACTGGCAACGGCCCATGAACCATCTCCCTTCCCACCAAATGACATCAACATTTACGTGATTGCTTAGGTCAAACGCTTGGAATTGTCCTTGATTCCTTTCTCTTCCTTGCATCACGTATGCAATTCACCAGTGATGCCAGTGGGTTCCTCCAAATACATCATGAATGCACGTCTACTACACCACTCTTCTCCAGGCTACTATCATCCCTTACTTGAATGAATGCAACAGCCACCACAAAGAACTTTTAAAATGGTTAACTAGAACCTTATCTCCATCTCCACCTCCACCCTGACCCCAGCCTCCTGGCCTAAAATAACCAACAGCATCACAATGTTTGAAGTCTAAGTCCAAAGTCACTAGCATGGCTTCAAAGCCCCTGCACCAGACCCCCCTCTCCAACCTCTTCAGCCTCTCCCATGGGACACTTCAGCCTTCTGTTTGGCCTTAGAGCCTGCCAAACTCCTTCCTGACTTGTAGTGCTCATCCATGTTGTCTTGATGCCTGGACCTATATTTATTCTCCCTAACAGCCTCTTGTTCATGACCTCCTTCTCACTTTCCACAATGTTTAAAAAATATTTTAGAGTGGGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAATATTTTAGAGTGTTGATTTATTTACCTGTAAACTGTTTATATCCCTCTGATAGACTAAAACTGCAGGAGGGCAATGCTATGCCTTTTTCATTCACCTCTATGTGCCCAGCATTTGCATAATCCCTGACAGATAGTTGGCAAGGGTACAGTGAGTAAAGGAATAAACGAAAAAAAATGATGAGTTGTGGGGCATACACAGACACTAAATCTGACGATTCTCCATGCACTGCATACACCAGGGATTCCCAAAGTTTGCTGCACATTAGAATTACTTAGGTAGCTTGGTAAAATCCCAATACACAGATTAAACCCTATTCAATCAGAATGGCTGGGACTGACAGCCATACACTAGGACATTTGAAAGCCCCCCAGCTGATTTCAATGTGCAGCAAAGTTGGGGAACTGCTGACATTTACTTTTTGAAATAAAAGCATATAAAAACAAACTCTTAAAAAGAAAAATATATTCCTTTTATGTATATTAAACATATATGAAGTTCAAATAGCACCTACAATATACTTTATAAGCCCAAATATATCTAGACGTGCTATCTTAAATTCTAACTGTGGTTAATATGCACAACCATTTTTACCTGTTAATTTGCAATGTATTAAAGAAGTTTGTATATAATGTCAAGTAATGCTACAGGAACACTTTGTTTCAATATTAACAATGTTGAAAGTGGTGTTTTTCTGTACTATTTTCAATTTTTAGCTGATTTTACTGGTTACTCGATACTACCTGGCTAATATAATTACAGATATGTATATTTTAATATGTAGATATAAACCTATCTATGTATCTGTATATATGAATATAAATTCTATAAACATTTAATGAACGATTATTATTTAGCATGTACTCCATTTAAATGACAAAATGCAGGAAACTGAAGATGGAGTTTTGTTTATATAAAACATTTACATATTGACATTTGCTAAGATGAGTGATATGTCCTTTGACAGAATTCATTATCTGGTGAAGCAACATCTTCCACACTCAGTCTAGTTAGTTCAGGCTGCTATAACAAAAATACCATTGAATATGTAGCTTATCGACAATTTCTCACAGTTCTGGAGGGAAGAAGTCCAACATCAAGGCACCTGCAGATTCCATGTCTGATAAGGGCCTGCTACCCATTTATAGATGGTGCCTTCTCCCCATCCTCACATGGTAGAAGGGGCAATGGAATGTCTGGGGTCCCCGTTATGAGGGCACTAATCTCATTCATGAGGGATACACCCTAATGACCTAATCACTTCCCAAAGGCATCACCTTCTAATATCATCACCTTGGGAGTTAGGATTTCAACATATGAATTTGGGGGAGGGGATACAAACATGTAATCTGTAATACCAGTTTAATCCCAGCTTCCACTATTAACCATCTATATAAATTTAGGGGACTTTGTTAATCTTTGTGTTTCAGTTTTTCATCTGAAATGTGAGAACAGCAAACTGGATGCTGGAGTTTTTGATGGGTTTAAATATATGAAATACACACACACATTTGCAGTCGACCAACAGATGCTTATGTAAATGCTCCACTCCTCAAAACATTTTAACATGCCATACAAATAGTGAATGAGATGGTGGGAGGCTGGGAGAGGCAATTTATAATCGACTCACAATCTGTTGACCAGCACCTTTAAAATTGACAACAAAAAGAAATAATTATCAGCAAATGCACTGTTTAATTGTCAAGAAGAACACTTTATCAGTCATTGAAATGAAGCTAATGGCACAGTGGGTAAAAAGTAAAAACAAGGCTATCTGAAGACATGCCCAGAGCAGCCACACAGCCATGCACTATGAGAGAATAGTCTGAGAGGCTTCTTTTCTTCCCCAAATAAAGTCCTCCCAGTTGAGCTCCATGGAAATGCATTCTGGAGTTGACGGCTGCTCAATGGTTTCCTGGGCCATACAAAAAGCCATGGGACAGCAGCAAATTCTGACGAGCAAGGTGCTCTCTGCAGCCCAGGAACAGGCTGAAGCAGGCTGCCAGCTGAGTCAGTCAGCCCAGGGACAGCTCCATAACCAGCCCTGCGATCACCCTGTGCCTTGCACCTAGGGGCCTCCTGCCGGCTCTTCATGACGCTTTAGACTGCTTTAAAATGTCTTATCACCAAAACATTTGAACACCTTGGAAAATACTGTCCTCTATGGAGGAGAAAAAGAGAACTTTGAAAGACCAGCCCAGAAGGAAAGTGAATGACTATCTGCCTGCCATGAAACATTCTGGCTTGAACTTGCCACTCTGAAATAAAGCTCCAGCTCCAGCACACTCTGTTAATGAGGACATGTTAGTATCAGGCACATAAACACAGTCAGGTGCATCTCCAGAGGGGGATCTCAGATACTTACTGCTAGTTGCTGATTACAGCAACATCAGTTTCTGTGCCACATCCAGAGATTTTTCTGCACACTTTTTATCAAGGCTTCAAACATGATCCCAGTTGTCTGGGAAATACTATCAGCCACTTAAGTTTCCCCTTAATTTAGGAAAGGAAGATGTATTTTCACCATAACAGCAAAAGCTTATAACACTTGTCTTTTAGAATTAAGAGTCAACAACCCAGGGGGATCCACAGACCACCCAAGTGGATTGTGACGTTGTCCTGGCCTTCTCGTGGGGGTCAGGCCATCTCATCAGGCAAGGACGACCCAATGCCTTCTCGGTGGAACAGTTTTGATTGAAAAGATAGTTAAAAAAAAAAAGTGATACTGCTGTAAAAAGAGACACAACATCACATCCAAACACATTATCCTCTCCTCTGACCTATGCATGCACGTGTGTACGCTCCCATGTCCATGCATTTACACACACACACACACACACACACACACACCCCTCCCCTCTTCAACACTTACCCATTCCAAAGTTTTATGGAGTTTCACTTTGACTACGCTAATCATCTTTATTCACTTTCTGAAAGACTCAGCTGCTCAAGAAAATAAAATGCCAAAATATATGGACCCAAGGCAGTTTTAAGACCAACACTGTAGATTCATTTAAAAATAACAAAAGCCACATATTCATTCATTCAACAAATAATTATGTAATGAGGATTATTTTAGGTGCTCAGCACACATCAGTGGATGAAAACCTCTGCCTTTGTGGAGTTTATACTCCAATAAGAACAGAGAAAAAAATAAATAAATTAAACAATAGGTTATGAGTCTGTAAGTGCTGTGACTACAACAGAAGACCTGGCTTGCTGGGCAGGACAGGGTGTCTGAAGAGTGGGTTGTAAAATTGAAGAGACTCATTGAGATGACATTTGTGCAAAAGCTTGAAGATCAACTGTGCAGATATCTAGGAGGAAAATACTCTTTGAAGCTGAATTTTTTAAGTAACAAAACGTGATCTGTTTTCCCCACAGAGGATACTACTCTCCTAACCCCGTTCTACTAAATGGGCTTGTAGTTTAAGGGGAAAAGATTTGCTCCTAGACGCCTGAAGGAATGAGTGTAGACATGGGCATGGCAGCAGGGGCAGGAGGCGAGAAAGGGAAGAATGTGAGTGTATCCCTCAGGACAGGTTCTGAATCAGCTGAACCTGGGGCTGGAAAAGCCAAGCCACATCCAGGGGAGAGCCTTGATTTCTCAAATTCATGTTTGATTTCCAGCAGCAGTGCATTCAAAGCTTAATTTCAGTCCAGAAGTCACCAAATTAATATCTGAGGTTAAAACGCACATACACATACACACACAGACACAGAACTGATGAACATTTCCAGGGAAAGACACACAGGGAAGAGTACAAGGACAGAGTGCCACTGCCACGCAGCCACCTGCACCTGTCCACACACTGCAGAGGCGCCCCGTCATTGTGCAGGGAGAGGGGAGGTGCATTCTGGGCCTATGCTTCGGGCTGCCCCTGACAGCTGCCCCAGGCCAGGTCCCCTTACCGCCTGGTACCGCTCCCAGTAGGGCCTGGCAAATGGCCTGGCTGTGTCTTAAGCTTATTCCACATAATACTTCCAGTGTGGGACTTCCAGATAGCGACACATGTACTTCCTAACCACTCGGGCTTTGCGGGAATGCTCCAAAGGGCCAAGCCCTTGGTGTGACTTTCTGGTTGGGTCTTCTTGCTCAGTGTATTTCCTGGATGGTGGCTGCCAGAATCTGTGGGGAGAGTGGGAGCAAGGCACAGGGGCAGCCTGCAGCCTGTGGTGTGACTGGAGATCTGACAGCACATGGCCCCTCCCGACTCTCTCCTTCCTTGGTAAGAAGTGGCAGCTGCCCTGTCCTAATAAGGTTCACCTTTCCTTGCATTCAGCCTCAGGTATGTGGGGACAGGGGCATCCCAATTCAGTGGAGACCTGCCTTCCTCTACTAAAGCTACAACCCAATTAAAGGCAAAGACCCCAAGACTTAGGAATACTGAGGAAAACAATGCATGCCTGTGTGTCAACAGCTTTGCAGTGTACTGTGACTGCCAGGGTCTGAAGGAACCGGGGGTCCTTACTCCTCAGGGGTGTGAGCTGAACTGTTCATGTTAGTTTGTCCCTGAAAGTGGGCATTTGCTAGTAAGTGAAATTGGGCTTTAAACGCATACTAGGGAGGCTTGCTATCTAATAGGTTCCTAACATTAATCCCCAGCATGGCACATGTATACATATGTAACTAACCTGCACATTGTGCACCTGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAATGCTAAAAAGTAATCTAACTCTAAAAAAAAAAAATGGAGCATTTTGTTACAAGGCCACCTGCCCCCTAGCTCAGTGCATTTGGACAGCTGTAATGTGATACCATAAACTGGGTCGCTCATAAACAGGCATTCATTTCTCATGGTTCTGGAGGCTGGGGAGTCCCAGATCAGGTGCTGGCAGAGTAAGTCTGAACAGGGCCCTGCTCCTGGTTCATACACGGTGACTTCTCCCTGCATCCTCACATGACAGCCTTTTGGCAAGGGGTCTCTCTCAGGCCTCTCTTACAAGGGCGCTAATCTCATTCCACATGACCTTATCACCTCCCTAAGGGCTCACTTCCCAATCCCATCACCTTGGGGGTTAGGTTGAGAGGGACATAAATATTCAGTCTATAGTACCCCAATGACTTGTACTTCCTGGTTCAAGGTTATCCAAATGGTCAACGCTGAACCATAATTAAATGCAATCCTTACCCAGTGGGCATTAGGACCTTCATGTGGACCCTGGATGAACTGTGGGGTTGCCAGGATCTTGGGTCAGCGCTGGCACTCAGGATGGACAGAAAATGGAGGGGTCCTCCTTCTTCACCCTATGAAGGCAGCTGGGCTGCGGGCACCAGCACAGAGCAGGCAGTGTGTGTGGAGTGCAGTGTAGAGGCTGGGGTGCTACTGCAGGCCCCCCATCCCCCACCCTCAGCCCAGGCCCCCAGGCAGCCAGGCAGGGGCTTCCATGTTGGATGCACATGGAAGAGATCTCATGGCAGCCCCTGGAGTAGGTGGGTGCGTGGGTTCTGCCTAAAGGGGGCTGAGTGAGGGAGTTCTGGGGGCAGCCCACAAACTCTGAAAGCTGTGTGCAAAGAGGCTGAAGGCAGAGCCTGGCAAGGGGGCAGCTGCAGAATTGAGAGCAAAGAACACAAGCGGCTGCATTTGCAAGCACCCAAGGCAGTGGCAGAGGGCAGTGAGGGAGAGGATGAGCACAGCGGGTGACACAGGTGGAAATGATGGGCTGATGGGAGGAAATGGAGCGGCTCTTAGACACGGTTCTGGTGGCCGGCCATGGGTAGGACAGCAGGATCTAGGGGTATCATCAGTCTCCAGAAGAGGCCTGGGCTGGGGGATTGATCTGCCCAGTCATCAGCACCATGGGAATGGCCGAATGTGCAGAGAGTAATTCTAAGGACAAGAGCCCAAGAATACGCATAGAGAGAGGGGTACAAGTACCATACCCAAGGAACTCAATAGCCCATACCTTGTCTACAAGGCTGTTCTGCAGGAATTCCGGGGGTCAGCAGGGATGGCTCTGACTGGTCACTTTGTAGCAATAATCTTCACAGGTAAAACCATGGAGAGAGACAACAGGTGAGGAGAAATATACCATGGGGTGCAGCTGGGGGATTCCATCTGGATCCCTCAAAGTGATGGGAAGGACCAGGAATAGCAAACTCACTCACTGCAAATTGTATATCCAAAGGAAAGAGAGATGGAAAAAAATTTCCATTTACCTAACGAAATAGCACATGCTCTAGTTGACCAATGCCCTGAACTACATACAATGCACACAGTGGCACGGAGTGGGGCTCTGTCCCTCGTGAGGCAGCCCTAGTGTTTAGGATGCCCACTCCAATGCTGCAGGTGCTGGTCTGCAGGCTACAGAGTGTTTGAGTGTGTGGATTCGTGGAGTGCCTGCCTGGGCAGAAAAGCCTCTCCTTAGCCAAGGGACATTAGGAAAAAGTGAAATTAATTCGTTGAAAAAGTAAACAAGATGTGTGTGTCTCTCTCTCTCACACACACACACACAGACACGCACATACACACACACACACCGAGTGGGGGATTCATTTATTTCTCTGCTCTTCCTTTCCCCGCTCCCAGCCCCATCATCAAGTATAATGTCTTCACTATTCCGTTTAATGATTTAAACATGATTAGTGGAATGCAGATCAATGCAGACATGAATTCTTGGGGTAAAAATGCAGTATTTCAGCACTGTGGAAGAAAAACTAAACAGAAATGGAAGCTTGGGGAAACAGCTACATCTTGAATGAATAAATTCTACTTGATGAATGTGAAACATTATTTTAGGAATTTTTAATATATCTAAATACTCCATTTCCACAGCAGAGCTTGGGTCACATTTTAGAAGATTGTCTTCCCTCTGTAACACTCTTCCAGAATTCCCCTCCAGAGTTAAGACTGTCCATTCCTCACCCAGGTGCCCTATTTAACCAAAAGGCCAAGGGCACCTCCTGGAGTCCCTGGGTTCCATTTCCTTTATGGCACTATCACCCAAAACAAAAACTGGGCTCAGAACTCTGAAAAACAGCTCTCCTCAGGAATCGTCACGCTGGCACTAATGCAATCTGAAAAGTACGCTTCACTGATATAAACTTTCACTGGAAGGCATCCAGGCAACATGTGCTTTTTATCCACATTTTTAGAGGCTACAGGAGACACCTCTGTTTCTCACACTGCCAACCTGTTACATTAGAACTATCTTGGTGTAATGGAGCAAATTATTTCATATAAACAGCATTTGCTTTACAATAAAAAACAATGCACCATTCCTGTGTACAAGGTAATTGACGGTAAAGAAGCAGGTAGAAGAAGAAATCTCCTTTCCGTGGCCTTTGTGTGTTGAAAAAAGTCTGGATCTCAGAGCCTGGGAAAGGATCTCAATGTACTGTTTTCCTTGTACAACACAGCTTCTGGCTCCTAGTGCAACTTCCTGAACATCGGCCTAGGTTGTCACTGTTAGGATCTGGACACCAGAGTCTTCTTTCCGGGCCACTTTGGAGCCCTAGGGGTGGATGAGAGAGAAATGGAGGAGGTGGGTGCAGAGGGTACCATGCACCAAGGAAGGCCTTGGTCCTCCTGGATCTGTTGTCGGTAAGATGGGGGTTTGGAACTCATTCTCTCCAAGGTTCTTGCCGACCTCAACCTGTGATTTGCAATCACACACTCTGACTGCTTCTGGTAAGGGCTTTTGGAGTCTTCTCAGTGCACCCCAGAAGCCTTCACAACCCAGTCCAGGACAAAGTGCTGGGATCTGCTCCCTCCAAGGAGGGAGCATGTCATCCTCAAACCAAGAAGAGAGTGCCTGGGGTGATTAACCAACAAGGATGGCAGAAGCAGACAGGCCAGCCGCGACAGCTGTCAGGAAATGACTCTTTCTGTAGTATCTGCCCCTCTGGTTTACAGAATCACTTAAAAATAAAGCAGCCATGCATCAATTTCACTCACATCAAGAGATTTCCCACTGTTTTCTTCACTTCCAGTAACACACACAATAAACATTTAACGTTCAAACTAGCTCGTATTTTATTTACATGTATATATGCATTTTTAAAATGGGGCTTCTTCTACAAAGTTAAGAAATGGCTGTCTTTTGGAAATTAAGAGGAGAAAATCAACTTTACTATAGATTAAATTTCTGATTTAAAATAAAAAAAGTATAAAAAACCTAAATCAAGCCTCCCTGGCAGGTAGGCAGGCCCTCTACTCAATACTTAGAAGCGCTGGCAGGAGCCGGCGGGAGCTGTGGGAAGGTGGCTACCTGACTCCAGATCTGTGGGCTCCGCAGCCCCAGCACTCAGTGGTTCTTGAAGACACCACCACCTGGGAAAGACACTAACGAGGGATTTCTCACAGAAAACCACCGAAGTACAGCATATGGGGAGAAAAGATGAGCTAAAGTGAGTTATTGAAAGAGATCTTCTTTAATAAGATCAAGAAGCAAGAAAGAGCTTCTCAAATTGCCTTCTGTATTGGAGAAAGGGCAAAGGGAGCCTCTGAGTATTCCATCAACTTTGCTTGCCAAGTACATCTCTATAGAAAAGAGGGCTGTCATTGGATCTGATGGCTGGAGACGCTAGCCACTGCCATTCAATGTCTTGCATGTTCATGTTCTAAAAAGTCAACAGCTTCTGTCAACTTTCCACAGGGGAAGGAATACAGTGACTGTAGGTACAAATATTCTTGATGTACTGAGCAGTTATATTTTGTATGGCAAATTTAGAAAGTGGGTTTATACATCGGCCTCTTGTTTAGTCAGTTAAATAATGGCCCTTGTGGCAAGCTGTGTTTTCTAAAGATGGTCCCAGCAATGTGTCTCTTCCACAATGTGACCTTTTCAGCCCTTCCAGTGAGAGGAGGGGTTCTGTGACCTATGCCCTTGCTTCTCAGTGGGCTCAGGACTGCTAGGATCAATAGAATACAGCAGACAGGATGCAGTGTGACTGCTAAGGATGGGTGATGCAGCCTCGTTCACTAGAACATGTACACTTGGAGTCCTGAAGCTCCATTTAAGAATGACCCCAAGGTCAGCATGCTGTGAGGAGGCCAAGCCACGTGTAGAGGCCACATGTGAGCACTCCAGTTAGCAGTCCCCATCTTTGAGTCATCCAGACCCAGCTCCAGAATAAGCCTCTGCATGAGCCCAGCCCCAGTCTTCAAGGCTTCTCAGCTGGGGTCCCAGACATCATGGACCACACAGGAGCCATCCCACTGCACCCTGTCTGAATCCAAGGTTGTATTAACCATTAAGTTTTGCAATCTCATTCATGCAAACATATTTTGAAACCTGACTGCACCAATGTATACATCTTCAAAGGTAATGCACACCCCAGGCTCAGATAGCACCTCTCCTTAAATTCCGTCAGTCACACTTCTTCTGACTGTTCACCTGGCATCCAGTGCCCCCTATGGCTGGACATGACATAGTGATTGCAGCCTCAGGGATGCCATCTCTGCTCGAGCCACACAAAGCCACTAATCTCACCCATCATTGACTGATTTCACCATCATCCTATTCAGGGACACTTTCACTGCTTCCAATGAAAATGGCTGACTTTATCTACTATCAGATAAATACCCTCACATATACATCTGTATCCTATCTTCAGCCATTTCCATCAGAAAGATTCTTAAACGTGGAATCGTGGGAGACTGAGTATTAGATTTCAGGATCTTGGTGATACTGCCAAGTGGTTTTCCTGAAATCAATTGCTAGTGAGAATTGAACACAGTTATAAAGCTTGTTGCTCACTTTTATTTTTCTTTTATGAACTGTTTATCCCAGTACTTCAGTCACGTAAGGGAATGGGTTTTTCTAACAGACTGGTAGGTGCTCTGTAGGGGTGTCCTCAGACGTGACGCACAGTGACACAACCCCTCTATGCTGCTGTGAACAGGCAGGCACTGCTGGCATGGGCTCACACTGCAGGGGAACCTGGCAGGGTAGCTGATAATGCAAAGGGCCTGTGGTACTGAGGGAGGTGCCAAGAGTAATGTGAGACAGCCATCAACAGAGGGTGTGCAGGAGCAGCTGGGAGGAGCAAATCCCGGTCTCTAAACTGGACCCAAAGGAATATCACAGAAGAGCATAACCAGTCCTGGAAAGCCCAGAGGTGGCAAAAGACTAGGTATGTTCCCTGAATACGGCAAAGGTCAGTGTGCTTGGATCTGAGACACAAACTGAGGTCAGAAAGCCAAGGACAAGCCAAACTAGGCAGGAGCCTGTAGCCACAGGCAGATGCTAGGATTCACAGGAACCACAGTGGGAGGCCCTGAGGGGTAGTGAGCAGGGACAGCCACACCCAGGGGCACGGGAGATGATGTGGGTGACCCTGCAGGCCTGGTGAAGGGTGGCGGCAGCAGTACTGGCCAGAGGCGCTGGGACCCAGGAGAGGAAGCAGCAGATCAGTAATGATGATGGAAAGAAAGTAATTTGGTGAATAACTTCTCGTGACTTCATGACTGATTGGCTTGGGGGTACAGAGAGAGAGTAAGGTGTCAAACATGACTTCAAATTTTCTGATTATCTCAGTATTAAAGATGCCACTTCTAAAAAGAGGAGGCCTGGAGCAAGAGCTTGGCTGACAGCAGGATCAGAGGTCCCTGTGGAAACCATGGAGACATCAACTGGGCAACTAGTAAACTGAACTGGAGTTCAGCAGAAAGTTCTGAGCTGGAGGTGTAGCTTGGGGAACCTGCACAAAACTGGTATTTAAAGCCGTGGAACTTGAGACCACCCAACAAGAGCTGAGTTAAAAGAACACAACTCAGGGCTGGGCCTTTGTGAAGTCCTGCATTTAAAGGTCAGATAGAAAAGGAAATACCATAAACCAGCAAGGAGAAGGGAAGGGAACAGCCACTGAGCCGGGAAGAAACCAAAAAGCAGTGGCATTCTGGAGATCAAGGGAAAAGAATGCTTAAAGAAGACTGGCAACAAAGGAAAGAATTTCTCAGCTGTTAGAAACCAGAAGAAATGGAAAATCAGAGCTTAACACCAATACTTGCTGCTGAAGGAGTGTGGAGGGGACAATCTCTCCCCCGTCTAGGGGCTTACCTTTTAATGTCATGCAGGAATCCCAAAGCAGAGGTTCCAAAAGGTCAAGACTATTTTCATGATCATTCAATGATCATTCTAAGGAGAGATTTGCTTTTCGCTGTGTTGACATTCATGGTATCGAAGCAATGGAAGAAGCCGCACAAATTAAGGCAATAGCAACCACTGTGCCAGTAGTCTTCATATTCTTCACCATCAAACACTCAAACTTACAAAAGCCAAAGAACAAAACCCAAACAGAAACCGAAAACAGTTTAAGAATATCTTTGATGAAGCAGTGAAAAGTATTAATTGTATTAACTAGCAACCCTTGTGTGTAAGTGTTCCTGATATTCTAAGTATCTCTGCTGTATGCCAAAGAGCGATGGAGGTCCTGAGGCAGAGCACCTGTATGACTGCCTGAGTTGCACCCTGAACTAGCTGTATTTCCATGGAACATCATTTTCCTCACCTTCTATTCATCAAAGCATACTTGCAGGGTTTGAAAGAATAACTGAAAACGATCATTTTTCAGACACTGGTGTCTGGCAAGCATCCTCTTGAAAATGAATGTAGTGAGCCTGTCACTTTAAAGAGAATCCCAATAGTATTTTATTATCGATGATAAAATCTGAGCTTCCCCATGAAACTTCTTGTATCTACTACTGTGAATCTGACTGCTCCCAATACTCAGAGACTTTTCTGATGAGACTAGTGGTGATATTAATGAATGTGATTTTCTGAGAGTGTGTAATGAAATGTGACAATGCTTAGAAGAGCCACCTAACTCAATGGACCACTATTTTCCAAGCGATCAGTGTATCATGTTACAGATCATATGTAGATAAGTGCAAGACAGGGCAAAGAACTGTAATATAATGGAGTATGAAAAGTTTACCAATGTGGCTTCAGATTCCATGTGGCAACTAATTTTAAGAAACTACTTGTTGTTGAATTCAGATGTAGTGTCAAAGATATCCACAATTACCTGAAAAGTCAACTGAAATACTCCTCCCCTTTCCAACTACATAGCAGTATGAGGTTAGACTTGCTTCTCACACTACAACTAAAACAACACACCCCAATACATGGATTGTGGAGCAGATATGAAAATCCAGCTGTCTTCTATTAAGCCAGTCGAAATTTACTAAAACATAAAACAATGCCATCCTTTTCGTGATATTTTTTGTTTTTGAAAAATTTTTCATAAAAGCTTATCTATGTTTACATGTAACAGGTTTATAATTGTAATTTTAAAATTGATAGGTATTTTATAAATTCTCAGTATTAATTTCCCATGCAGTAAATATTAACAGACATACCCCACAAAGAAAAGCTCTTTAGGCACCACGATAATTTTTAAGAATGTAAGGGAACCTGACATCAAAAATTTTGAGAACCAGCATCCTAAAGCATTTGCTTCAGGAAGAAGGAAGTTAAACCCAAAGAGAAGGAGGGCATTCCAAAAGCAGCGGGCTTTGTATTGTCTGAGTGCTTGAAATGTTTCACAATTAAAATTTATTACTTTTTCAAAAAGAATGAATAGAAGGTGAGGAATGGCACAGTGAAGGTAGATGATTCTCCTGAGTGTTTTATTGAGAAAGAGTAGGGGAAGGTGTGGAGGCAGAATGGGGAGGCTGGAGTTAAAGTAGGGTCAGTTCAGAAGGGAGCGGCACTGCCCACCTGTGCTTATCTCTTAAACGCGGGCATACAGATAACACGAACACATGATCTATACCCTGCAAGTATGGCACTGATGCATGTAAATCCTGCAAGTACATACTGATGCATCTAGACCCTGCAAGTACACACTGATGCATCTAAACCCTAAGTACACTTTGATGGATCTAAATCCTGCAAGTACACTTTGATGGATCTAGACCATGCAAGTACACTTTGATGGAACCAGACCATGCAAGTACACTTTCATGCATCTAAACCCTGTAACTACACACTGACGCATGTAAACCCTGTAAGTATGCATTGATACATTTTCTCAGCTGGTCCTTTCAGAATTTTGGGTAAGCTTTCGGTACATTTGAATTTTTAAAAATAAATTCTAATCTGTAGATATTTTTATTTGAAACATGTCTCATATTTTTCTGTTTAGAAACTGCTTCTCTCACTCCAAGATTATACTAGCTTTTCTTTCTTTTTTAAATGAAAGAGGAACAGCAAAAAGGTGTGTCCCATTTCCAGACCTGGCCTCTGGAGCTCCCCACACCTTCCACAACCTTCTCTCATTACTGTAGTACAAGGGCAACACCTATTATCCTGACCAACTTGGAAGCTACTGGTGAAGATGGCAGTGCCCCCCAAAACTTGATGCCTTCCATGATTCTGACTCTGGCCCCCAAGCAACCACTCCAGACTGTAACATTCCTGCTGTACCCCAACCAGTGCAGCAGGCATGTGACTTGGGTCTGTTTGCAAAGCAGTGAGAGCCTGCCCTATTTAAGCCATAGATTAGCTGTGTGGCTTTGGACAAGTGAGATAAACATACTTTGCCTCAGTTTCCTCATCCACAAAGTGAGGAGAGCAGCACCTTCCTTGGCCAGAGAATTAAATAGTACATGTAAACACACAAAGCAGGTATGGTGCTATGGTTTGAATGTCCTCTCCAAAACTCATGTTGAAACCTAATTCTCAATGTGGCAGTATTAAAAAGTGGGGTCTTTAAGAGGCAGAGCCCTCAGGAATGGATTAATCCATTCAAATCCATTCATGGATTAATGGGTTATCATGGGAGGGGAAATCATAGCTTTATAAGAAGAGGAAGAGAGACCTGAGCCAGCACGCTCAGCCCTCTCGCCATATGATGCCGTGCGCCACCTGGGGACTCTGCAGAGTCCCCACCAGCAAGAAGGGCCTCACCAGATGCAGCTCTTCAACCTTGGACTTCTCAGCCTCCATAACTGTAAAAAATAAATTCCTTTCTTTATAAACTACCTACTTTCATGTATCCTAGGCAACAGAAAACAAACTAATACAGCTGGGCATATGATAAGCACTAAATATTAGCTACTATTATTATTTATAATAAATGTTATTATCCAGTAGAACAAATTCTCTATCCTCCGACAAGTCTTATTGCCAAATTTGCCTATGCACTTAAGGCAAAGAGGCCAGGAATGTGGACAGAGTGTCTCATTACTGGAACCTCCTTTTGTGTGTGTGGCACGTCTGTGTGTGAGACAGGGTGTGTGCCTGGACAGGGTGTGGATGTGGAAGCTGTGGGTGAGGCTTGGTGACAGGTGAGGGGTGTGTGGCTTTGTGGGCGTGTGGTGCTGTGGGATGTGTCACTGGGTTCTGTGGCCCTCATGCCCTGCTGCCCCTCCACCCTTTCACTTCATTGTTACGTGAGATGCCTGCAGAGAGGTGTCCCTAAGAAGGAAGCCAGGTAGTGAGTCCTAGAATGGAGGCTTCCAGCAAGCAGGTATAGTTGCCTTGATCTGGGAAAGGGAGGTGTAAGCAGGTCTCCCCCTCAGGAGCTCTGAGAAGGCAGCTATGTGGCTCAGAGTCGAAGCATCCCAGAGTTCTGACCCAGGACCCCGCAGTGATATCACAGACAGACTGTAACCGCCCCCCTTCATTCCATCTCATTATGAAATGTGTGTGAGGCCTGTCGTTCTACAAAACAAAGACCCTAAGGAGGAGGGGAAAATGTTGCTTTACATATAAAAGTCAATGTTTAGCTCTAGGTATGTTTTGGGCTTTCTTAGTGGAGACACTGAAAGGGGACTAGTCAGCTTTTTCTCATCAAACAACATGGCATACATGGCCAGAGATGTGGCCACAGACGAGGCTGTTTGAACCTGCTCCAGAAATGTTGTACCAGGATGTGATGATGGAGAACTGGCAATTTGATCTCAATGCTAGACACTGTTTTTCTGAACCAGATGTGATGGCCTTATTGGAGCAAGGAAAAGGGCACTTGATGGTTATAAGAAGCATGAAGACTGTACAGTTATTGGTTGCCTCACCAAGTAGGGCTAATTGGTTACCTTGGAATTTAATTCTTAAATGAAACAGCAAGAAAGCATTTGGTTTTCTAATACGAATTATAAATTTTCCAAATTTGGAACCAAGATAGGAGCTAATCAGCTACGAAAAATGTTCACTTATAAAAATATACATCTCCTACTCTCCATCAAAGAGTTAAAGATGGAGGGAAATTCAGTGACCTCAAGGAATGCTAAGCCTAGGTGGCAGCCTTAAAATACATCAGAGAGTTCATAGTGGAGAGGTACCCTATGAACATGACTAGTGTGGGAAGGCCTTCAGTGCACATCAACAACTTTCTCAACATCAAAGTACTTAGGCTACTGAGAAAGACTTTGAATGTGATAAGTGTGGAAAGTTCTTTTGACTTAAGCCTCAAAGTACATGATAGAATTCATAATGGTGAGAAACCCTTTGAATAAAAACAATACAGGAGGCATTGGAAATGGCAGGCAATATCATATGTATCATAGAATTCATAGCAGTGCAAACTCCTTTCAATGAATAGAACACAGGAAGTTCTTTAGGCAACAGTTCAGTCTTTTAGAGAAATCAGGGAGGGAGCTCACACTGGCATAAGACCCTAGGAATATATCTAACATAGGAAATCCTCCAGTAATGGTCCAAGCTTTGTTTAACATCAAAGAATTTGTAACATGCTTTATTTAACATGGAAAGCTTACTGCTATACAATTATCTTGTAGTTGGCCACTTTACTGTACACTCTCATAATTCTAAGTCATTCCACAGTGCCAGACCCCACATGGCACTCAATAATTAATTTTTGAGTAACTGGATTAACAGATGGGTTCTCTTGCATTTCTAGGTAAATTATATTGATTCTAGGAATAAGTTTTGTTTTTGTCTTTCCAATATTTACATCTTTTTTCCCTTCTGTTTATGAATGCCTTAAATCAGCCTTGTAGACACTAAGAAATATGCGTAAGACTTTGCACTAATGTGCCTGATATGGTGTCATCATGCCAAAGGACTCTTTGGGCTACAAACCACAGGAACCCACAAGTTAGCATAAGCAAACAAGGGAAGGCCAGACACTCCAAGGATCAGAATAGATCTGGGCTTCATGACTGGGCGGGAACCATGGCCATGTTTGCCATGTCTTCAGATGGATGGTCCTTTCCTCCTTCTCATCTCTTTTCTTGTTTTCACTCCAAAATGGCTATTGATGGGCAAAGAGAACAACCTAGTTTCGATGATACAGGTTAACCTACTCAAGGATACAGGACTCTTCTGAGAAGCTATTTTCACATTCCCATGAAAGAATGCCCTAACCGTCAAGTAGCCCATCTTGGCCAATCATCCATAGTTGCAGGTGGGGATTGTGTTGGCCCCAGAGTGGGTAGGGTACCCATCACTGGGTGGCAGCTGCAGGAGGTGGAAGGGCCAGGCCCCTTTTTATAAACATTGCAGCAATGTGAATGGAGGAGAGAAAAGGTACCCTTAGAACAGAGACATTGAGAAAGGTACCCCAAAGCTATCCACAGCATACAGTAGATACTTCAGAGCTCTTTGTAGTTTAGAAAGAGCTTACTCATATAATCTTAACTGCTCCATCCTTCATGGTAAGGCTTTATTTTTAATGTTCATTTTGCATATGAACAGGCTGAGGCTCAAGGAGGTGCAGTGACTTTTCCAAGGCCATAGGATTCCTAAATGCCAGGACCCAAACCCTAGATTCCATTCTATCTTCAGTCTCTCTGGATTGTTGTCCTACAGCCATTACCATAATCTTACACCCAGTTAGATCTCTGGCATCACTAAAGTCTTGAAGAAGTTGGAAATAAATTTCATTTTTTTAATACTCTGAGGGGAGATATACCATTGTAAGTGCTATGTAATAGACACAGAATGTCTTCTAGCAGCCACTCTAAGCAACACTGACTGAGCATCTCCTCCAAGCCCACACCTTCCTCATGCAGGGTAGAAACCAGGAGAAACTGCTGGGCCTGTCACATCCAGCCTCTGTTCAATCAGATGGGAATATTTCTGGTTCCTCTCCCACTGTGGTGTTCCCCAAGAAATGCAATCATCTGAAAGTAATCCAAGATGTCTGAAAGTAATCCCCCAAATTTTAACACTGTAAATGTTTCTAATACTAAAGGTTAATTTTAGAAATAAAAATTGAAGCCAGATGATTTTCATATGAATGTTCTGACATGAAAAGGGCAACACATTTCACTCCTCCACAATTATGTTTCCCAAAATTGAAATGCTTCCTGTCCAGTTCAGTGCTGTTGAGGCTCAACATCGTGCCACTCATACAGTCTGGGCATCTTCACTCATGGCTTAATTCTGATCTCAGCAGGGTGGCACATTCAATAGAAACATATCTGTCTCTGCAAGAAAAATTGCAGTTACTGGGAGGGGCAGAGGTAGAACTGTGGAAATCCAATGCTGCCCTTTTTTTTTTTTTTTTTTTGAGACCGAGTTTCACTCTCGTCCAGGCTAGAGTGCAATGTCGCGATCTCTGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGCTGAGGTTGGGAGTTCAAGACCAGCCTGACCAACATGGAGAAACCCTATCTCTACTAAAAATACAAAAGTAGCCAATGCTGCATTTTAACCCACCAGCCTGGCCCTACCTGCCCATCACTGCCACTGTTATGCAGTTAGAGGTACAGGGTGCCAGAGCGGGGAGACTGGCTGACTAATGCCTAGCAAGCCTCAGGATCCTCAACAACTGGGAGAGGGAAGAGGATACAATTTAAACTCCACAAGGCCAAGTCCATCTCCAGATTCTACCATGTGGAGCCACCACCGCCCTATAAAGTCACATTGACGGGAGTACATCACACTTCCTAGATGTGTCAGGAACAACAGCAACCAGAGCCCTCTGACATCATGGCTCCTACATGGCGTCAGGATCCCTGCAGGGCCTGTAAAAACTAGGCGGCAGGGCCACCCCCAGAGACTCTGATTCAGTGGGGCTGGGGAGGCCCCAAGAGCCAACAACATGCACTTCTAACAAGTTCTCAGCTGATGCTGATGCTGCAGGCCTAGGGGCCACACTTTGAGAACGTCTGCCCTGATGTAGCTAAAAACCTTCATGTTATGAGAACAGTGAGGCCCTAAAAGGAGAGGCCATGTCTGGAACCCAGGTGTTTTGATTCAAAAACTAGAATTGCTTTATCAAGAGACAGGATAAATAAAAAAGAAGAGGAAGGAAGGATAAAAAGAGAAAGAGATTAAATAGATGCCCTTAACAGAGAAAACAAAACAGCTCCCTGAAGACTGCAGTGTGTGGGCAGGGCACAAGTCCAACCTGGGGTGGAATTTCTGGGTGTGAACCTGGCCTGTGACCTGGTTCTGCACCCATTAATGAGCTGCCTCCCACCAGCCAATATCATGGAAACAACTCAGAAAATGCAGCCATCTCTTGTGCCCTGAAGACCTCCTCTGGGGCCTCTGGCCCTCAATCCATGAATGACAGCCCTGGGAGCTATAGATGCTGCCTCATGATGGGCCCCAGAGCATGCAGGAGAGGCTGCCCCCTTTATGGAACTGCCTGAGAGACAGAGTCACAGGCTGAGGTCCCCTTTTCAGGTTAGGATGAGAACTTGACAATGGAGACACCTATGGAAGTGACATTTTTCCACAGTATTCATGGTAGAAATAGTGGACTGGGAGGTGCAAGTCTTGAGTTTTAGTCCTGACCTACAACTAATGGTCATCTTTTTTTGTTTGTTTTGTTTTGTTCTTTTGAGACGGAGTCTTGTTCTGTCGCCAGGCTGGAGTGCAGTGGCTCGATCTCGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACATGCCACCATTCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCTAACGCGCCCAGCCCTACTAATAGTCATCTTAAGGGAGTTGCTTGGTTCCTAGGAAATTTTTTTGTTAAATATAAGAAGTGGGTTGATGACTCCTCTGGGATTCTTCAAATTTTGTATTCCATCATCCCACCTTCTATTTTGGTTCTCTTGCTGTGTCCCTCTTTTGAGTAGGAGGGTCAATGAAATGCCCACATCTCTGCTTCTAGTTGTAGAATAGGGAAAGCTCAACTAAAGGGACGCATGCGACACAGACACATGATGGATGAGTAAGGTACAACACGTCCCGGACCAACCCCAGCATCTAAGAGGCTTTCTATTCAGCTTTGTGCTGGCTGGCCTTTGTGCTGATGTGGGTTTCTAGGATCATTCATGAAGTGTATTTTATATTAATTAGCCTTCAAGAGAATTCCATCCAGCTGGCCCCCTCCCTCCTTCTGAAACATGGCCTTCCTTTGGCTGTCTTGACACCCCACCCTCTCCTGGTCCTCCTCCTTCATCACTGGCTGCTCCTCAGACCCTGTTGACAAATGTCATGGAATGCAGGGCTCAGCCTGGATTGCATCTCATCTCCATTTATGCCCTCCCCAAATGCACTCCCATGAAGGCTCTAAATAGCACCTGGATGATGTAGAGAAGATACTCAGTCCTAACCGAGCTCCCCACTTCACATGCCTACTCACTGCAAACCAAGTACTGCCCAACCAGGACTCTTGACTTCCTACCACCACTCCCTCTCCCACTTCCTTCTTCTCAGCACCCACCAAGTTTCTTAAGCCAAAAATCAAAGCCCTCCGCATTTCTCGTCCGCTCCTCAGCAACTATGTGCAATCAGCAGGCAGATCCAGAACACATCTCAAATCCCTCCACCTCTTGTCATCTCTCTGCCACTTTATTTACTTCATAAAACCTCTTGTCTGGCTGCCTGAATGTGTCTCCTGACTGACACCCCTGACTACATTCGATTCTCCACACAGCAGGAAGGGTCATTTTTTAACACAGAAACCGGATGCCATCACCTCCAGTTTAAAACCTCCCAATGACTTCCCATCACATTTGGGCCAAAACCCATACTCCATGGCCAGGCTCACAGGACCTCCACCTGCTCCAGTCCTGCCGCCCTCTCCATAGCATCCCTTGCCCTCCCCTCTCCCCATATTCCCTGACTTGGGCCAGCTTGTTCATCCTGCACTGAGACACACTCAGTCCTAAGCTGGAGCTTCTTTTGTCCTGTATTCCCTCTGTCTGGCCCCCACCTTTATTCAGGTTGCACCTTGACTTTCTTCTCCTCTGGGACCCTTGCTGACTCCTCAGTCTGAGGCAGTCCTCAGTCTCTCTCTCTCACAGCAGACTGTTTCATTCTCTGCACAATAGTGACCACCACCAGATAAAATTCTTCTTTATGTGTATGTGTGTTCTGCCATCCCCCACTGGCTTCTGAGCACAGTCCTCCATTGTGTGTTCACCTCTATGCCTCAGGGAACAGTGACTGGCCCCAGTGGGACACAAGGGCTGGGTTGAGGGGCTGTCCTCAGGGAGCTCTTCTGTGCAGACCCCAGGGTGGGAGGGATACAGACTAGTGGCAGGCTGCCCCCCTGCCTGGCATGCCTGGGGATTCTAAGCAGTCCTGCCACACTGCCATGCAGATGCTCATCCTCCTCACCGCCGGCCACGGGAGACACCACGTGCCTCACACCACACACCAATTGACAGATGGCGTGTGGGCACAGGAAATGAGCCCCAAACTGATTCGACCCATGACACCACTGCACACACAGCACTCAGGAGACTGTGCGGCTGTGCTTCTGCCTCCAGCTTCCCAACCCCCCATGCACCTTCCCCGGAAGCAGCAGGAATGTCCTTTCTGATAATGCGGCAGAACTTGCTCTTCCTGCCCCTGCCTGCATCAGCATCAGGAGTCTCTGGCCTCTTCAGTTCCTACCCTCTGGGCTGATTCTGGCCTGGTAGTAACTGATGCCCTCCTGGGTTATCTGACCCCAGGTGAAGGAGAACCCCACACTGTGTCCAAGAGCATCACACAAGGCTTTTTCCTGCAGCCTCCATGGCTTCCCACTGGGCCAGAGGTGCACTTCCTGCCCCAACCTGGTCTCCCTGTGTCCTCTCTCCTCACTGAGTCCCCCATCCCTCCTCTATGGTCCATTGTTATCTTCTTCTTAGAAGGCATTCCTTCTACTTATTTTGTATGTCTCCTCCTACAAACCAAAAATACATGTTTCCTTCTCATTCTCCGTCATCCTTAAATTACAATACTGGAAGGGGTACGAAGGTGCCATTTTCTTAAGTCCTCCTGGGTTTGCAGCTAGAGCCACCAGTGGAAGGCTTAATGGAAGGAGATGTCCCATCGTACTGTCATTCATAAAAGACCATTTGATTGCCTTCCATTGCACACTTCTCTGATTAAAAATGACTTGGAGCATGTTTCTTTTGCTTTTTAGCCCTGTGGCTTTCCTGTTCTGTAAAATGCCTGATTATACACTTTGGCCATTTTTCCATGTAGGCTCTTCTTGGTTGCTGTTGATTTGAAGAGTTCCTTGTACATCATGCCTTGGTATTCCAGAGATGGTCTCCCAAGCTGTCATCTGTCTATTGATGCTACCAAGGAAGCCTATGTTGATCAGAAATTCTTAATTTTGATGTGATCAAATTAATTATTTTTGCCTTATAATTTGTGCTTTGAAGTTTAATTTTAAAAACCCTTCTACATCTAAGCCTTCTTTGATTAACATTATAGTTTTATCTTTCACATTTAAACCTCTATTTTTAACCTTCATGTAGTGTTTGGTATGGCTCTAGGTTCATTTTTCTCTATATGGAAAATTTTCCCTAATAGAAGCTTACCCTGTGGATATGTGGTTCTACCTTAACATGTATTAAACCTCAGTCACACAAATATCTGTCTCTAAGCTCCCTATTCTGTGCTATTGGCCCATTTGTCTGTATTTACATCAGGACCACCATTTTCAATCACTATAGATTTGCAGTATGCAGTATGCCTTAATATCTGTCAAAGTTTTCCTCTTTACATTGATGGTTATTTCTCAAAAGAGATTATTTAATGTTCCTATCACATGAAGCAGAAAGCAATGTGACAATCTCAATGATACATTCAAATATTCAAATATAAATTTGTCACTTCCTATTTTTGTTAAGTACCAAGCATCAAAGGTATAATATGGGGGAGGGAGGGTGGGAGAAAGCCACAAATTAGTAAATGTCTAATTGATTCATTCATTCAACTAATATTAATGAAGCACCTACAAGTGCTGGCTGGCCTTGTTCTAAAGGCCGGGAATAGAATAGTGAAAAAAAAAAAAAAAATCCTAACTTTATGGGACTTACATTTGAGTGACAGAAATCAGAGAATCGCTTCATCCACCTCGCCCCCCAGCCCACCGTCTGGGGGATGCTCCTTCCCTACTGGGCCCACCTGGGCTCCTCCAGTGAGCAATTCATAAGAAGAGAGCCAATCTTAAGTTGCAAATAAATACAGTTATTGTTTCTCCTGGGGTTTACAATCAACCCAGATATATGAATTAATTTACTCAAGATTTAATTTTAAAATAAAAGTCAATGTATTTAGCTTAAGTAAAATAACAGGTCATTTCCTTTGTTGTCCAGAGTTTAGTCATTGGTCTGATTTTGAATAGAGATCTATAAAAATGAAAATAAGATTACTGCGGCTATAAATCTTTTAAATAATAAAATCTAGTTATTCTCATTATGCTTTTAATATTACAAATGAGACTATCCTTTGAAGAAAGTAACTTGGGCCTTAAAGAAATCCAGACAATTCAGATCTGCCTGCTCATTCGAATCCTAGGATAAAAGGTTACTGGGTTACAGACTCAGTTCCTTTGGGGCCCACAGGTGAAATGCACAGACTTTTATGCAGGAAATTTCTCTGCAGCTGGCCTCTCTCCCAGTCAGTGGGAATCACGGTATGATTGAGGCTTTCATCTACTAGGCCCTTGTCTTCGGGAAGGTTGAACAGAGTCGCTAGCACCATCAGTGGCTGCACTTTCATTCTGCAGCCCCTAAAAACCTGGTTCAGACCTCTTCATGGGTCTCAGCCATTGTGAATATTGGAGTGCTGACCTGGAGGAGTGGGTTTCTGAAACTCCAAAGAGGTCTGAGTTGAGAGAGAATTGGAGTTGGGGGATGAGAAAATCGGAGAGGTGTAGCTAGCAGTATGATTGGCTGATCTCTTCTATCTTTCTGGGAGGTGAGAACAGTGGGTTGGAGTGCCAGGGCAGATGCCATGGAGTAAGCACACCTCCCCATGGAGAGTGGGGCATGGGAATATGAGGCACAGTACAGTTACACACCCAGCCACTCTCCCCGGCCTGCACGTTCCTGAAATGCAAATTTTGCTCTCTCTTTAAAGAACACTGGTGCTAGGAGCACAGCACCTGAGACAGGCAGGCTGCCACTCCACAGCTGGGTGACTGGAAGCATGCTTGGGCCTTTGTGGGCCTCAGTTTCCTCTTTGTAAAGTGAGGAACAGGCCCATATGTATCCCTGTAGGGCAAAGAAAGACAGCACAGGAATGTAGTCACACACACCACATGCCCTACCGGAAGCATGGTGTTCAAGCTTCTCTGAGCCTGGCCCCTAGGTAAACACTCTAACTGCTTCATCTCCTGAAATGTTCATGCGGACCCTGCATCATCCTCGTTTCATAGAAGGCTCAGTTAAGGCTTGGAGAGATGCACTAGAAGCAGAGAGTCACAGCAGGGATCACCACCATATGCAGTGAACTTGAGTCTCTGTAACATTAGGGGTTCTCCAGAGAAGCAGAACCAGTAAGGGGTGCGTGTGTGTGTGTGTGTGTGTGTGTATCTATGTATGTATCTATGCATTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCATCTATCTGTCTTCTATCTTTCTAGAGAGATTTAAGGAATTGGCTCACATGATTGCGGGGATTAGCACATCCAAAATCTGCAGGGCAGATGGGCAGGTTGGAACCCCAGGGAAGAAATGATACTGCAGCTGGAGTCTGAAGGCTGTCTGAAGACTGATTTCCTTCTTCTTTGGGGAAGCTCAGTCTTTTTTCATTGGGCATTCAAATAATTGCATGAGGCTCACCCACATTAAGAAGGGCAATCAGTTTTATTCAGTCTTCTGATTCAAATATTAATCTCATCTAAAAATTACCTTCACAGCAACATTCAGATGTATTTGACCACATTTCTGGATATTACGGTCTAGCCAGATTGAAACAAAATTTAATCACCGTGATTGTTACACAATTAATGTAAAAGAGCATAAGGAAAAAAGTAGCCACCAAGTCAATGGTGACCCAATGCTCTTCTATTGCTTCCAGTTTTTATTTCATACTTATATTTAGACAGAGCTTTCAAACATTCCTCTTTTCTTTGAGACAGAGTCTTGCTCTGTTGCCCAGTCTGGAGTACAGTGGTGCAATCTCAGCTCACTGCAACCTCTGCCTCCCAGTTTTAAGTGATTTTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATACCCGGCTGATTTTTATATTTTAGTAGAGACATGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTCCTGACCCCAGGTGATTCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCTGGCCTCAAACATTACTCTTGCACTTGCACAAGCATGGGGGTGCGGGGGGAAGCAAAATAAATCAGTTAAGATGTTCCAGGAGCTCCTCATTCAGAGCTGCCCTAGTGGATGATGGCACCTCGCTGGTGTCATGCCCCTTGAACTCAGGAGCATGGGAGCCCGCGCTGCCTCTGAGACGTGATTCTAAACTGCCAACCCTCCCCAAAAAGCTGGGCGGGTGGAGGTGTTTTCTCGCTTAGGATGGCTGAGTGATCTTTTTTTATGTATCTTGGTCACAAAACAGAACACAAACCCCTCTACTCATAGGGACCTTCCTTCTTTAGGTTCCATAAAGCAGCAAATTTTTATTGGCAGTGAAGGGAATGTAGACTGGCGGTCACCTCTCAACGACGAGTACCTATTCCATTAATACCGAGTCTAAGCACAGCTGCTCTGTTTCTGGCTTTGCTCTCAGCACCCTCTCCCTGTAGCCTGTCTTTTCCCCCAGAGGACAAGCTCCAGGAGGCCAGGGCCTTGCCCTGTCCTTCTTCACTGAGGGCCCAGGCCCCACCATGCAGGCTGCCTGAAGGAACAGCCCCCATTCCTCAGGTGACACCTGCAAATCGCATGCTTTGTACTCCAAAGGGAGTCGCCCGCCTTCACTCCCAAACTCTATCCTAAGCCTGGACGCATGCTTACAGAATTTTAAGTGCCCTTCCAAAAAGCAAAGACGTGTTCCTATTGCCACTGCCCCAACGAGTGGTCCCTGTGTGTGCTGCTTCTCCGGTGCTGGGAGGAAGTATCACAGCACATCAGTTATGGAACGTTGTATTAGTGTCCCAGTGCTGCCACAAAAAATGCCCAAAAACAGCTGGGCTTAAACAGCAGGCATTCACTTTGCACCGTTCTGCAGGTGTGAAGTTTAAGATCAGGGTGTCAGCAGGGTTGATTTCTCCTGAGGCCTCTCTTCTTGGTTGGGAGACACCCGCCTTTTCACTGCGTCTTCACATGGGCATTGCTCTGTGTGTGGACATCCCCAGTGACTGATATCTTCTTATAAAGACATCAGTCATATAGGATTAGAGCTCACCCACAGGGCCTCATTTAAACATGATTACCTCTTTAAAGACCATATCTCCAAATAAAGTCACATGCTAAGGTATTGGGTAACGTTAGGACATCAACACAGGCATTTTGTGGGGGGGTGGGGGTCCCAATTTAGTCCATAACAAATGTGATCTTCCCCAAAATTCTGAGAGAGGGTGGCCCCATTTGAAGCCAAAGTTACTGAGATAAATGCTGTGCCCGTGAGCTGCCTGCTGTCCTGCATACAGTTCAATCTTTCACTCAAGTGTTTGTGGTGTGCTCCCGATGCCCCCTCATGCTTGCTGTCCAGGTGTCCAGGTGTGGCCATGGACAAGTCAGAGCAGATGCCCATGCTCATGGACAGAGGCATAAAGGCAAAAGCACATAAAATGAACAAGGCAGCTCTGGCACTGACGAGTATTCTGAAGATGACCAGGCAGCATCAAGGAGGGAAGTGGAGTGCATGGGCCTGACAGTGAATTTCCCCTGCATGCTGCACCAACCTGCCAGGGAAGAACCAAAACCTCACTGAGGATAACCAGGAGTCAACTTGCTCCAACACCTTAAGTGCCAAAAGTAAACAATGAGGCTCACTGGACCCCAGCAGGACAGCTGACCCTTATAACAGAGCAAACAGCAGGGCATCAGCTACGTTGTTCTGGTTCCCAGCCCCCACGGCCCCAGAGGCCAGAAGGAAGCCAGGGGGAGGCTCAGCTTGGGGGGGGGCTCCTGTCATGGCTGAGGAGCTCTGTGCCTAGGGAACCCATTGCTTTGCTAGTGGGCAGAAAGCAGATCTCTCCTCTTTTTGCAGGGAGCTGCAATCTCACCTCTCAAGATCACCACTTTCAAAAAGAACTCTGAGACACAGCCTACTGGAAGAGGGGTCACAGGCCTTCAAGGAGGGGCCAGGGTGGAGAGGGCCCCACAACCAAGAGGCAGCCACACAATTATCTGGAGACAGAGATTTCTGAGCAGAGCAAATAGCAAGTGTACATGTTCTAAGCCAGGAGTGAGTCTGGGGTGGATCCTTGAACAGAGAGAAGGCTGGAGTGGCTGGGGTGAATCCAGCAAAGACACGGGAGAGGAGGGCACCTGGACATGAACAGTGGGCTGTGCGGGCCTGCAGGCCATGGAGATGGCTGCGTCTCCTTAATCCAGACGGTAGCCCCAGAATAACACAGTTTCATTCTCAGTTTGCAGATGAGAAAACACTTTCAGAGAGGGAAGCAAGTCTCTCCATTACACAGTTCCTAAGTGGTGGATCTGGGGCTATGTTGGGGGCTGAATGTTTCTGTCCACCCCATATCCCTGTGTTGAAGACATAACCTCCAATGTGCCTGCATGTGGAGGTGGGGCTTTTGGAAGATAATTGTTTAGATGAGGTCATGAGGGTGGGGCCCCCATGATAGGATTAGTGCTCTTATAAGAAGAGATTCTGTCCCCTCTCTCTCCACGTGCATGCTTAGGAGAAAGGCCATGTGAGGACACAGGGAGAAGGCATCCACCTGCAGGTCAAGAAGAGGGCCCTCATCAGACATGGAATCTACCAGCACCTTGACCTTGGACTTCCCAGCTTCCAGAACTGACTGTGAGAAATAAATGCCTCTTGCATATACCACTCACTCTGTAGTACTTTGTTATGGCAGCCTGAGCTTACTAAGACAGGCTGGAATCCAGATCTTTCTGGCTCACACCTAGTTGCTCTCAATGCCTGGCTGCTGCTTGACCCAGGACATGGGGCTTCCCTTCAGTCAAGGTTCACAGGCTGTGGTGGGACAGAAGGCTGAAGATACGGGGGAAGCACCACTGAGTTAAAGATCTCTTCACATGCAACCCAAACTTTTCTTCAGGTGAATGGGGGGAACCACACATTATGCTCTAATCACTGAAACCACACTTCAGACGCAAAAACAAGAAGGTTGTTTATTACACCAGAAACCGCAGAAAGTGAGAAGGCTGGCATAAGGTTGTGACTCAGGCAGAAATCTGGCAGTGATATTAGGAGCACACATCCCATTTGTGGCCAGATGATTATTAATAACACAAGGTACTCAGTGTGCACTGAAAACTCACCCTGGAATATGAACACAGAAGTCCTCCCATGAACGTCAGCTCACCAAGTAGGAGCTTTAGAGCCTGGAAATGAGCCCAGGCTGGCCTCACCTAGACGCGCAGCATGTTTCTGCTCCCAGGCAAAAAGCCCGGGAGGCCTGTACTCTTGTACCTGAGGGTCAGCCAGATATGTGCACCTTGGTCCAGCCAAGGAGAGGCCAGGCACCTATGCCCAGGGTCCTGGTGGCCCATGGTCTCACCACCCCCATGCACTCTGCCAGCAGCCAATCGAGGACACTGAGCTTCAAGCTCATTGTGTGTTCCTGAAGGTCGGGACTCCCCAGGATGCTGTGGGGCCATCAGGATGCAGCCAGGAGGGACAGGAGAGCCAACCTACCCAATGGCCTCTGTGGCTGGTTACTGTGGTGGGTGTCCCCTGGTCACTCCTGGAGGCCCCAAGTTCCCATGCTCTGCTGCACAGAGCCAGGTCCGGGTCTCATCCAGCCTCCCATTCTTAGGCCCCTCTGGGTTACAGAGCTTCTCACCACCAGAATGAGCAGAAGGAGACGCAGGGAAGGTGATACTGCACCTAGTTCACAGTGGAGGAGAAGCAGCCCCAGCGTTTTTTTGTTTTTTTCTTATTTATTCTAAGACCCCTCATAGGTGGATGGCTGTGTGCTTTGCTGATTCTTGCTGACAGCAGCCATGGCAGCGTCTACAAACAGGTCCCCCTTTGCTGTGGATTTCCTGCAGCCCCTGCTGTGCACATGGGCATCCCTCCATGGGTCTCAGAGGCATGCTCTCAGGGTCTCTGCATGCTGTGCCAGAAACAAACAAACAAAGCAGGAAACAACAACCTACAGAAAATACACACGCAGCTTAATGTAGAGCATTATCCAGCAGCCTCAAAAAAAAAAAAAAAAAAAAGCAGAATCAGGTTTCCACAGATCATTCTGGAAAGTAGATATTCCCAGAAACTCCACACTGCAACTAGTCCTCCTAATGAACAATCACTAGCACATTCAACACACTCAACACAGGCAGGATGGTGTGTGCCAGGGCCAGCGGGCATTGCTGAGTCGGCCTCGAACCCCAGGCAACTGGGAGGCCAGGTGCAAGGGCAGAGATAGGTGTACTACTCTCACAGGAGATGGCCTGGCCTGGGGTCTAGCGGAACACCAGGAACTGCACTAACTCAACTCTCCCAGCCTGATGGCAGGTGGCCAGGGCTCTGACTGCCTCAGAAAACAATTTGCCAGAACCCAGCCCTTCTGGTTTGCAGAGGCTCTGGTTTGCAGAGGCTCTGGGCAAACTCTGGGCTGGTTCTGAGCTGCCACTATCTAGGCCAGCAGCGGGCACATCACCTCAGATACAGAGGCATTTTCTCAAAATGCATAAAATTGCATTTTTGGTGCAATAATAACATTTTAAAGTATCGATTAACAAAACAAAAATGAAAAGAAACATCATCTACTTTGTGGGTGCTAAAGTAGCTTATTTCTGCTACATTTCTACATTGTGCTGTGTGTATGTGTGTATGCAAGAAATATGAGGTTTACTATTAAATTATTTTCAATCCACCACTAACAGCCAAGAGAAATCAGGATGGCTTTAAATCCTAAACCTATGATATGTGACTGATTTTTTACATAAATAAATAAAATTAAAATACTGTCATGATAAATAAATGTAAAATTATGTTTTTTATTTATATATTTTTATATAGACTGATCCAAAGAACCATCATTCACACAGCATAATTGACACACATGGTGTACGCATCTACACATTACACTCAAGTGACACTACTTTAGTATCCTGCAAGCTCCATGTACCAGGAGTGCAGTTACCTCCCATTTTGTTATGGGTTTTACATGAAATCACAAAAAAATAAGGTGTATTAGTTAGGGTTCTCTAAAGGGACAGAACTAATGGAATATATATGTGTGTGTATATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATGTAAAGGGGAGTTTATTAAATATTAGCTCACATGATCACAAGGTCCCACAATAGGCCGTCTGCAGGCTGTGGGGCAAGGAGAGCCATTCTGAGTCCCAAAACTGAAGAACTTGGGAGTCCAGTGGTCGAGGGCAGGAAGCATCCAGCATGGGAGAAAGATGTAGGCTGGGAGGCTAGGCCAGTCTCTCCTTTTCACGTTTTTCTGCCTGCTTATATTCTAGCCACACTGGCAGCTGATTAGATTGTGCCCACCCAGATTAAGGGTAGGTCTGCCTTTCCCAGCCCACTGACTCAAATGTTAATCTCCTTTGGCAACACCCTCACAGACACACCAACGATCAACACTTTGCATCCTTCAATCCAATCAAGTTGACACTCAGTATTAACCACCACATAAAGTATAATAATATTCACTCTCACATTACACTTCATTATATGCTGATATCCAGATTATAAGTAACTACTTATGGAGTCAATTTGATGTTATTAAAATTCAGTGCTGCAATAGCACATTTGAGATGTGGGATTAAGAACGCTTTGAGGTACATTTAACATCTCACATCTTTTTTAATAGACCGGCTTATTTTATAGAAAATAATTAAATAAAGTCATAGTCACTTCCTTTTTTTACTCAGTCTTTGAAAGGCAATTACCATCTCTTTGATATAAAAATACTACAAGGACTACTTCAGGTCAAATTCTTCAGGCCTGAATTGAACCCCAATTGAGTGTTGGTGCAAACACTGCTGAGGTTTGTCAGGCTCCACAGTGACGTGGAAGGAGAGGAATCTCTGAATTCACCCAGTCAGGAGGTTCTCCCAGGCCTCTAGGCGCCTCTAAGTGACCTTTTGGCTGAGGGAGAGAAGGATCAAGGGGCAGGTCTGTCTGTCGACTTTTGTGGGTAAGACTTCACTTGAGCAGAGCATTCCCAGACAAATGAAAATAACACAGTTGAAAACCACTAAATCCACATAACCAATAATCATGCCCCAGAGAAGGGGACAGAAGCTCAGAGTGGCCCAGGTCACCAGGTCATTCAGCAGCAAACTCCAGACTAGGAACAGCATTTTCACATTTCCAGGACACATTGCCTGCTGCCCAGGGCACTAGAATAAAAACATCTTGCCGTATCAATCTATATCACTTCAACAACCTTAAAAAAAAGTTATTTGCTAAAATATCATCTTTCCCTTCATTTCTTACCTATTCACAAAACATTCCTTAAAGATTGTATATTTTAAGCTTGCTTCTTATTGTCCCCAAGACACTGATGGCTCTGATTCTCCAGCATATACACCACCAACACACCACTCTGTGCACAGTGACCAAGCTGTCCAGGAAGGCTCAGGGGTGCCTCTGCCCTTGTCTTGCTGAGAACACTGGGGGAAGCACCCTTTTCAAGGCCTCAGCTAGCAGGAGCTCCACAGGGAGCAGAGACTCCACTTCTTTTCCATAAGTGCTGCTGAGTCCCACAGCTAAAGTCACAGTCTTTTCATTATGACTCGGAAGACTGGCTGGCTGAGGTGTGTCACCCTGTTCTCAGAAAGTTTCCATCGCTGCAGTGAGTCACATAAGTGCCTTCCACTGTGACCATCTGAGAGCAACGCTTTAATGCAGTGACCTCCAGAGCAAACAAACAGCCCTGGTGGGGTAGGGGACAAGGTGAAAAGCCAGTGGAGGCCCCACCCACAAGTGCATCTTTCAGGATGCAAGATGGAATTCACAATAAGTTCTCATCCCAGCTGAGCACATCTGCTAAAAAGCCCAAAGCTTCCTTCCCCATGGTTTCAGATCAAGGTGATGATACCAGATGACAAGCTTAATCCCCTTATTGGTGGGTACATCAGATGCCTCCCTAACTCCAGGGGAGCAGAGGATGACAGGGGGGATGAAACAAAACATATTTGGTCTTGCTTGAAGTTAATCAATTTAATCATTACACAGTCCTCAGCCTTTACCTACTATTCACCCCTAACTCTTCAGGATGGCTTCCAAACCTTCAAGGAACAGACCCTTTCTTCAACTGAAATTGCACAAACATAATTTCAAGATATAAAATACCTTGAAGAGAAAATGTGTGGGACAATAGGAAGAGGCAGCTCCCCCTGGCATTGCTACCAACGTATGTCCAGGAAAGCTTCTTGGACGCAACCTTAAAACCACAGCTCTGATGGAGTGCCTACTTTTATGGTTCATTGGAAACACCCGGGTCCCCCAACTCCCTGAATTAGAATGTCCTTAAAGGGACCCAGGAACCTCTCCCTGAAGTTCAGGGCTGGCTCCCTCCTCCTTTCTGGACCAACCCCTCCCGAGGGACTAAGCCCCCTCCTCCCCTTTCTCCTCCATGGAGACCTCAGGATGTAGTGCTGTGAGGGGTCTGAGAATTTCTGCCTCATTCTCCTACTGCCCCTCGACTTCACAAGTCTGAAGGCTGGTGCAGTGAATGATGGCAGACTTCAGAAACCGACACCTCTCTTGTGCTGGGGAGGGGTGGGGCAGGGATGGCCAATCCCAGCCATGCTAGATGGAACCGAAGAAACTCTCCTTCCCCAGAGGAGCTGTCATCATGGGGGTTCCATAAACATCATCTCACCTGGGCTGGAAATCACCTGCTGATGCACCCATGACAAGTGATAAGTTTCAAACCAACCCACCTGGCACAAAGCTAAATCCTGTGTTTATATAGACCACTTTGGTTTAAGTGCCACTGAGCTATTTCTGTTAAGCTCTAGGAGAACTGTTCACAACATGTGCAGAAGCAATTGCTAAAGAAATAATGGGTACAGCACATAATAACATCATAATTGTCCCAGGCACCGTGTTGAAAGGCAAGGAAGAAGACAGGCATCAGAAAGCAGCTGTGTGCAGAAGCTCCTCGGCTGGCCAGGCATCTTGAACAAAGAACAGCCAGGAGCCATCCTTGGCCTTTTCTTGCCCGATCTCCACATACACACAGCCCCTGCAGAGGCAACAGGTCGGGTGAGTTAGTTTCCCTGTAGGGTCTAGGATCTGTTGGAAGGCTGGAAGACAGCACTAAAGAGGCCCATCAGCCCAGAGGCTGCCAAGTGCTGAGGGAGGAGTAGTGAGCCTGATTTGTAATGAAATAGAAAAGGCAGGTGTAACCAACCTGGTAACCTAGAGAGCTGGACAATTTGGCAATGGCCTGCACTGGCAGGCTCCTGTAGATGCACCTTGGCAAAGGACAGGCCTGGGCTCCTCCTGACCCTCCCCAGGGCCCACTGAATGCCTGGGATGCCAGCCGACCTCACAGGGCCCTGTATGCAGGAAGGGCCTGACGCGTGAACCCTCTCTTCTATCCACCCCAAAAGATAACTTCCCTGTCTGCACAGGGCCAGAGAGAATATAACCACATCACCACTAAAGGGAGGCCTGTGATTTATCAAAATGTGTCTGTCTTTATAGAGAGGCATATTTGGAACTGACAGATTTGTAGTTGGCAAAATCTAAGACCCACTGACATCACATTCAGTGCCTTTACTTCAATCCAGATGAATGTGAAGAGAGTTACAGGGCAGGAGGAGAAGGTGTGCTTCTCTGCACAGGGAGCTGCCTGAGGTCCCTGACTCCCGCTTCAAGGCAGACAGCTAAGAGACAGCCTGAGTTCTCCGGAGATCTTCCTCCTCCAAAACCCAACAATAAGAACTACAAATATCTACATTTAATCAATTAACACAAACCAATTAAAATGTACTCTCAGCAACCAAGCAAGGGAGGAGACAAGAGTAATATAAATGTTTTTAAGGCACTGTGGTTTTGCAAAACATCCACAAGGCCATATTATTTAAAACACATTTTAAGGGGGTTTCTATATGGAACTGTAACAAAATATATTTTAAAGATTTGTACATTTTCTACAAGTTTAGGAATTACATTCCAACTAATCTATCATAATCTTAGCAATAAAATTCAAGAGTTTTATGCAAAACTCTTGTTAGCTTCCAATCCTGAAACCTCTGGAAGTTTATTCAGTCCAGAGAACTAAGATCATTTTCTACTGTTAAGCATTAGGGTAAGATTTTTGCTTCAGTTGATATCATTTTCTGGGTCTCATTCAATGCAAAAAGCACATGGCTCATCTTGCAATAATTGGTGCATCTCTGGACAGGACTTTTCCCTGGAGTGTCATTTATGTGCCTTTCAGAAGTACATTTGCACTAATGAGAGATTCCTCATGAATCAGTAGGGCTACCAATGTTATTGGCAACACATTTAAGAAGAGATCATCCAAGCCAGCCTCTTATAATCACTGGAAAATGAGTCAAAGCAGAATGTAGTCTGTTTAATATATTGAACCAGACATTCAAGACTTCTGTCATTAAAAAGGCCTGTTACAATTTTTACTTAAACCCCATCCTTCCATGCAGACCCCTCGTGGAGGGTCTAGTGGGTTGCTGCAAAGCCAACAAGGACCCCCAATGACCACTGCTGGTCCTGGGGGTCAAAGGCTGATCATCCCATCCTTCAGCCACTGTCCCTCCATCAAGTAGCACAGCCAAAGTCTCTTGTCCCAGGATTATGTATAGAAAACAGTTCCCTCTAGCTAAAAAGAGAGAATTTATCAAAATATGTTATCAACAAAAGTGACCACAGAGCATTTCACAATCCAATATAAATGGTAAGCAGGAGAACTGAGTATCTCACAGGAAAGGTATTCTGCCGTCCGTGCTCTGCCTCTGGGGCATCCACTATGGACATGTGGTCTGCAACCCTGGGGATGAAGGCAGCAGACACATAGTGCCCTGACACTGTCCCCATCCTAAGCCATCACCTGACGTCCTGGGGATGTGTACTCATTCACTTTTCCAAGAAGTGGGGTGGCCTTGGCCACATGTGCCACTCTACCACTCTTCCCTCTCCCATCTGGAGATGTTGTAAGCCTCTGGGCTATTTCAATTCAATCTGTTCAATTCTCCCTTATTTGTCAGTTCCTATGTGCCTGGCAATGTACTAGTCTTTTTATAAACATGGCCTCATGGAATCCCCTTATAAGCTCAATAGAGTCAATAACACCGTTCCCATTTTGCAGGTGAAATCGAGCCTCGGAGAAGCTAACTAACTTGCCCACATTGGCTATGGTTCACACTAGATCTCCCCATTGCTGAGCCCCAAGCTCTTCACTGCCATCTCCCAAGAGACAGAGTCTCACAGGGACATGCATGTGTTTCACACCTGTGAAAGGGCTCACACAGGTGAGTGCATGAGTTACAAGTCATTAAAGTTGATGAACGTGATCAATGACATTCTTAACTCTAAGTTCCTTTTATTAAACTCGTACATGTTATTTTCTTTGACTGTCCCCCAAATTGCACACAAGACATGCCACAGGAAAGGCAGAAAAATTCCCAGTCTCCTACCTGGGGAGCTGGCAGTTAAGATCCCCAGCTCCAGTTTTGGCAGGATTATAGAGGGAGAGTTTGGGAAGTGCCTGTCGTGGATTTGGTGGGTTAAGGGTCCCTGCCTAACACTACGGCTATGCTCAGTAACACTTGTCTGCCTGAGATGGTTTAAAACCATCAGCAGAGCCCCCTGGAGCTGGTCTTCCAGGAATTAGTATGCTATATTTGATTAAGATGCTTTCATTCCTAAAGAAGTAAAATGGAAATCATATACCAACCACCTCCACTCCCCCAACCCCCCAAAAAAACCCACAAATACACTGAAGCCTCACAGACTGTTGACCTGAACCTTTCCCAGGAATTTAGAGGAAACCATCCAATTGAGAGAGCCGCTGTTACCAATATGCTGTTTCTTGTATTTAATAACCTCGAGGAAGCTTCCCTGCTGCTGATAGGTGCCAGTTTCGTCTGTCAGTTGAAGTTAGCGACACTCAGAGCACGTAGCACTTTTACATAGAGGAGGGGCCAGAAGAGAGAAAACCCCAAAACATAATATTTTGTTATATAATTGAGCTAACAAATGCCAAACACACACACACACACACACACACACACACACACACACAAACAAATCCTCACCAGGTTTTTCCTTCACAAGGTTTCAACTAAAACACAACTCAAGAATTGACACTCCATCAGCAAGTGCCAGGATGAACTGTCAAAGCAATGAAATAAAACAGCAAAACCATCTTCCTACTTGAGCAGCACTGCCTTTCCATTACAGGAGCCCCTGTATGGAGCGCTGGGCTTCTTGAAACACAACTAAGCTTCAAAAGTGATACCCACTGCATTTCCCCAGCACAGACCTCATTCACAGGAGCACTTTCAGAGCATGAGCCGCGACAAGCTTCTCAGAAAACAGGCTCTGGAAAGAGGAGAAGGTGCCTGACTCGGAGGTCCAGCATGAGCTTGAGTTGTACCGTTGTTCTTGACACCACCTCCTTTTGGGTCAGCCCTGGCCTCGGGGTCACTCTCCACATTTACCTAGGACCTTGTTTCACATATTTAGAAGTCTGAGTGTAAGAGACCCTGATGCACTTCCCTTTTAAGGATGCCAGAGCATGACATCAGTTCTGCTTCATATTCTTGACTGTTCCAGACAGCATGATCCAAGGCCTCACCAGGCTCCATCCACAGCAGCACTCACATCAGTGTGAGAGTGGACAAAAGAATGAAACAAGATGCATATTCCCTCCCCTGAGCCTCACATCTGCAGAGCCAAAGTGTGGACTTCATTTAGCAGACAAGCCTGGAGTAGGGAGCTACAGAGCTGGACTGAAGGAGTCCAACTTCAGGCTGCGCAGGCCCCACACAGGCTAGGCGAGGCTGGGGCTTGCTTCCTTTTACATTGTCTAATCGTGTGTGGCTCCTGCCTTTCCTTTTTAAACTTGCTGGGCAATTGCTCAAAGTGGAGACTGAAAAGCAAAATCACTGAGAAGCCAAGGGACCAAGAAGTGCCTGGGGGACCATGAGACAGACTCTGACAGGAGAGGAAGCAGGCATAAGCACAGTGTAGACTGCAGGGTCAGCTTCCAACACCTCCATTCTGACTAGAGAGATACACACTGACTTCAAACCAGCTGAAACTCTGCTCTCGATTTGCATCCCTGGTGCTACTATTTTTAAGGAACACTGAGGAACGTTCCTGTAATAGAATCTGGTATCCTTTCACCACTGGCGATTCTGAATTCCAGCTCTTAGGAAGTAAAGTGTATCCTGGGAGATACATGACCATCCTTTGCTGTCTACCCAATGCCAATCCCTTTCTTCTGCCTTCCCATCAGAATCTGGCTTGAGCGGTAGTGGTGGGTTACTGCGTCTAGCGTTGGGCAATGGATATAGACTACTGTAAGACAATGGTGACAGTACTGTTTCCTGCTTTCCCTGCCTCTATTGCAGTTAGTGCTAGTGCAATAAAACCTGAGCAGAAACCCAGTTCCAGCCAAAAAAACTTAAGCATAAACCTGCCCAGCAGATTTCCAGGAAGTATTTGCAATCCTAATAAAATAGTATCAGAAGCAGCTGGTACTGACCAGCTTTTCTTCCCTTGAACTAGGACACAATGGCTAGTGCTTCAGCAGCCACCTTGTGGCCATGTGGTCCAGAGAATTAGAGGTCAGCCTAGATGGGTCAAGCCTTTACACCAAAGCCAGTAACCTTGAGACTCTTCCTTGTGAGTGAAAAGCAAGCCACACTCATTGGTCAGTTTTCTGTTACTCAAACCTGAACAGATTCCTAAATAATACACAAACAAAAGCACTTTATTTATGCACATCAGTGATTCAGTGATAACAGCTACAACAATTCATTTCCTGTGTATAACTATTTCTTAGTCCGTTAAAGACTTCCACAAAATGTATCTAATTAGACCCAGTAACATCTTGTTACCAGGTGAGTGTGTCTTCCCCACTTCAGAGATAAGAAAACACACTTGGAGAGGTGAAGGGGTAAGTGCAAGGCACTCACAGCCAGATCTTCTCCAGGGCTTCTATGGAACCACCTTCAGCCTGCAAGGTGGTGCAGATGGTGCAGTTCTTCAGGCAGCTGGAGAAGGGCAGCTTCGGGAGGCCAGAGGGGTTCCTCCACACAGCAGCCCAGCACACTCATAGTTCTACGGAGCTGGGTCTACTTACAGAGAAGGTGCAGGTGGGACAACAGGGATGCTAAGGTGGGCAAGGGCCTACCTGAAGAACCAGTGGAGCCTCACTGAAAATTTCACCACTGTCATGAACAGAACTGTGTCCCTGAAAATTCCTATGTTGACGTCCTAGCCACCAACATGACTGCATTTGGAGATAGAGCATTTAAAGAGGTAATTAAGTATAAATGAGGTCATAATGGTGGGGCCCTAAACCAATAGGGTTTGTGTCCATATAAGAAGAAAAAGAGACACCAGAGATCACTGGTTCTAGCTTCATGCATGCGTAGAAAAGAGGCCATGTGTGGGCACAACAAGAAGGCGGCTGTCTGCAAGCTGAGGAGAGAGCCCTCACCAGAAACTAGCCCTGCCAGCACCTTCATCTGGGATTTTCGGGCTCCAGAATTGTGAGGAAATCAATGACTGCTGTTTAAGCCACCCAGTCTGTGGTATTTTGTATGGCAGTCCAAGCAGACTAAGGTAGCCACCTCAACTAATGCCAGTGGCCTCTATGTCTGCTGCTCCAAAGAGCCATTTTAGTAATGGTTCTCTACTAACTGTTGGAGGCTAGGCACTACAAGGACTAGGCTGGCCCCTTCTGGAATTCTGTCCAAAAGTCAGTCTCTCCTAGCTCTGTGGTATCAGCCAGCTCAGGCCTCCATCCCCAGGAGGCTCTGAGCCCTAAAGGACACCCAGCAGGGCAACACAGGGTACTCTCTGATGAGAAAGTCCCCAGTCCATGAGGTGCAAAGCCAAGCCACTGCAGCCTGTATTGTGTGCCTGTGAAGGAGTGTGCCTTGCATTGAAAGTCTCAAAGCAGGGTCCAGGATCTCCTATGGAGCAGGAGGGGCTGCAGTGAGAACAAACATTATACACAGGTGAGGCATGCAGAGAAGGTGCACGGATTCAACCTCTGTCTCAGTCCCCACTTTCAAGGGCAATTTAAATCACATTTGGTGGAAAATATAATAATACTTCTAGCTAGGGAGAGACAGTGATGGCTGCATCTAGTAGAGCAGGAATGGAAAGAGGTAGACAGAGGGAGAGATGTTTAGGAAATGAATTATTGAGACCTTTTGGTTGATTTGATGTGTGTGTGTGGCATGGTGTGTATGTGCATGGTATGTGTGTAAGTGCGTGTGTGTGTGGTGTGTGTGATATGTATCCATACTTGCATGTGTGGGGGGGTATGATGTGGGCTGTGTCTGTGTGTGTGGTATGTGTGAGTGTGTGCTTTGTATGTATGTATGGTGTAGTGTCTGTAGATGTGTGTAGCGTGATGTGTATGTAAGTGCATGGGTATGTGTATGACATCTGTGGGGTGTGTGTGCGTATGTGTATGTGAGTGTGCGTTTATGGGCATTTGGCATGTGTGGCTGGAAAAGGAGACAGTGAGAAGCCGCAGGAGTGAGCAGGATCTCCACCGCACTCCCGGGGCTCCGGGTGCTGGTTAAAGGGTAGTAGAGAGGTGCCTTCCTCTTGCCCTCACAACTGCCTCACCATCCTCACTCTGTAGGGAGGATACAGAGCACAATGAGGTCTGCCATCCGCCCAGTGCCGCCAGCTGGCTAGGCCCTGCTGCGGGCAGTCCGCCTGGCCAGAACACCATGTTCCCTGGACTAGGGCAACCTGCTTTTTCCTATCAGCCTTTCAGAGCTGTACACAGAGCAACAGTGAGCATTCACTCACTCGCTCACTCTGCACAGCGGGAGGGGTCAGCTTCACTCTCGCTGGAGCCCACCCCTGAGGAGACCTGAGAGAGGACTGAGGCTGCGGGAGGATGCTGGTCACTGCTGCCTTGCTTCACCCAGCCTTCCCAGGGATGGGGCAGGTGGTGACCAGAGCAAGGCCTTCTGCACTGGTGGAAGCAGCAGGGGTTGAGGGAGCATTAACAAACAAGTGGGCTCTGCAAGTGGACCCCGGCTTCTGACAGTATCAGAGCCTCAACCCGTGCATCACATGGGCCTCATCTCCCAAACATGTCCTGGACCCACTGCCATACTAACCAGAATGCCCCAGCTGACCCTGTTCAGGGAGCCCAACCAGGGCTTCCACACTCCTCCACAGGCCCCCAGCTCACCACACAGACGTGCAGGAATCAGGCAGTTACGGCATCAACTGCCCTTCAGCTACGCCTTCCAAGGGTGGCCACATTAGCCACCCTGAGGTAATTTGAATGTGAAAAGGACAGAATTTAAATTACTCTGCCTCATTTACAGTTGTCCTTGCTGGAGGAGAGAAGAAAGAGCCTTGGGAGAAATTTCAGGTGATGGTTAATAGCAGCTTCCAAGAAAATGCACGCCCTGAAGCCATTTCATGGGCCAGTAAAAAGAGCCAAATCTCCCTTTTTGGTGCTTGAACGAATTCCAGAAGACCTGCCTCATGGAATGCCTATTTCTGGACCTCAAGAACCCACCTACTAATGGCTGCAATGAAATGCATTCAAGAGACAGAACACTCCAACTATACCATAAAGTGTCCCTATCCCCTGCTCCCACTCCCTGCAGTCTCAAATAGTGTCACCCTTCAGAATGTCCCCGAGTACATGGTATAACTGCCAAGTGTGAAGTTTCAATCCATCCACCATGTGAGGAGCTTTGCTAGTCCAAGCCACACACCCCAAGCTGAGTCTCCCCTTGGTCCTCAGGACCCTTGATCTTAACATGCAAGTGATAAACATCTTCTAAAATATAAGGGTTTAGCTGTCATTTCTAAGGGCACTAAGCTCCGCACACACACACAGGTATGAGGTCATGCCACATCATCTATTCTCCCTCAGGATGGATTCTCAAGGCCAGGCCCTTCCCTGGCCACTTTCGGAACCCAACCCAAAACACAGAGAAGGTAGAAGCAAGACACCTGATGCGGCAGCTGTCAAACGCCGGGGAGCCCGGGAATTGCTGGTAGCATGTGCTCAATAGAGATCCTCCAGCCTCATGTTAATAGAGTTCCATTCAGCAGGTAATGGTCCAGGCCAAGCACGTGCAGGTATACGCATGCCCTCCCCATGCCAATGCCGTTGCTGATGCAGATGCTGATACCTGGGTCCATGGATCAGGCACAGAGTGTTCCACTCACTACCATCCAGCATTGTTAGGCTTCTGTACAGTAGAAACTCAATAAATTTTGGTTAAAAGACTAGAAAAGGAAGTAATTATGTAAAGTGTCTTAGGTCACGATGATTTACTGCATGACACACCATATAGCTTTCTGACATGAAGAACTATTCTACTGCTCCAAGATTCAGCAAATGCCACATTCGTGTCTTACCCTCCCCATAAACACTGGGTCTGATAAATGTGTGGGGGAGGTCAGGGGTAAAGGAGGACATTCTTTGGTCAAATAAGTTTGAAGAATACTGGATTCCACTGAAATAAACAATTTCTATGTTGCAGGCCTTCTCAGAGCCTTTGACATGCTAATGGACATTGTGCATCTTTAAGAAAAAAATAGTACATAACATTCAAGCTTATTGAGTCAAAGAACCTTTATTTTGTAATGGAAGATATTTTAACATCATGAAACATAACTTGGGAAACTTCCAGTTTCAGCATTTCACAAAGCTTTCTAGTTTTCAAAATGTTTCTGTAAATATCAATCTCCTAGAATATCCAGGCCCAATTCCTGCCTCCGCAGTGACACCTGGACAACAGTCAGGAGGCTCTACTTACGTTCACCTGAGAATGCTTGAAAAGATTCCTTAACTGGGAATTATGGAAAACCACCAGAGGAATTACTGTAATGCCTTAATTCTAAGACACATGATCAGCCTGATAAGAAATTGGCAAGAAAAAATAAAAAAAGAAACGGTGAGAGCATCAATCCATGTAGACTAGGTCACCATGGGGTAACAAATAGACCAGCCGAAACCCTAGTAGCTCATACCCACAACAGCTTATTTCTCACGCATGCTAATTATGCACTATAATCAGCCAAGGGCTGTGCTCCACAAACCCTCTTTCTGGGTTTCAGGCTGATGGAGCAGACCACCCAACCACTGGCATCGGCCATGCAAGGGTGCTCTAAAGGATCATGTGCCAACAACTTACTCCAGCTGGAAATTACACACAGCACTCCCATTCACAATTCACCAGGCAGAATCATCCCCTAGGCCTGCCCTGCCGCAAGAGGCCTAGGAGTCAGCCCAGCCGAGTGCCCTGAAGAACTGAGAATCCCACCAACAGCACTGATGATGACCATGGAGGGCTATGCCTGCTGTAGCCCTGTTCATGTGACACGTCCTAATTCAGGGATACTAAGACATAAACAAGAGCCTTAACATTTAAGAAAATGGAATTCAAAAACCTTGCGTAAGTTCTTTTTTTTTTTTTTGAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGAGTGCAGCAGTGCAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGTCTCTCAAGTAGCTGGGACTACAGGCATGCACCACCACACCCGGCTAACTTTTGTACTTTTAGTAGAGATGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCTTGACCTCTAGTGATATATCCGCCTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGGGCCCAGCCTAAAAATCATGCGTAAGTTCTATTCATGTTTACTGGGCAGTTATTTTTTTGCATAGATATGAATCTATGCAATATGGGCCAAGTATCTATTCATTATACCACAGCTCTGAGTAAATACCCTGCCTTGCCATGGCTGGAATGAACTCCTAGGGCAGAGTCCTGAAGCTCCCACATTGTCCCTGCCATGTTCCCTGACTCTCAAATCCCAGGCTTGCTGCAAAGGAGACAACTGGGTTTCTTCAACATTGGTTCCCTGTCTCTGAACAGAGGCACACAGAACTCCCCAGCCCTTCTGCTGCTTCCAGGGCCTTCTAGGGTGCTGTATCTAAATCTGCAATTGCACAAATCTATGCAATGTGGAAACTCCCCTCCAAACACCCCCTGCCAGGACGTTTGTGCTGCTGTAGCCATAGCAGCAATTACATACAGACCTCTGATTTTAGCAGAGAAAGCAACATGCCCAAGTGGACACTGAATCAGAGGGCTCCCAGCAGAATGACACTGCTGCAGAAACCAGAGCCACTGTCAACTCCTCAGTCCCAAAGGTGAGTGACCATTCGCATCTGTTCTCCCATCTGATCATCACAGCCATCCCTCAAGGGTGGCTGGGGTGATGTACAATCATTCTGACTTACAGATGAACAAACATCTACCCAGCAAGGAACGAGCTCAAGGTCACTTAGCTAATTTGTGTCTGAGTTCATTGAACATCCAGTGCTTCTGACCTCTCTGCCACTGGCCTTCTGCCAAAGCCCGTGAGGGGCTGGAACTGTGTGAGTTCACTTTGCAAAGATCCTCTGGTCTATGGTTGGGTCCATTCCGGAAACAGGGCGCTAGGCTATGAAGTGGTGGCGGCAGGATGGAGCCAGGCTGGGGGGCCTCTCCCACCACGGGCCATCTTCCTACCCAAAGCATAGCATTGGAATCCCACGGGGGTTGTTTTGAAAGTTGTGTCGTGACACATAAATGTACGCATTCGGTAACAATAATGAATAGAAAACTTCTACAGAGATGAGGAACACTCTCTCACAAGGACATTTATTGGCAGCTCTCTCTCTTTGCCCATAGGACAGATGTTCTGGGAGAAAGGTCCCCACCATGTTCCCAGCCGGCACAGCAGGTGGTGACTTACACCATTCGCCATGCTCCTCCCTCAGCCAACAGTGACCGACCAGAGGAGGCACATGCCCCAGTTTGGGCCACTGATGCATGAGGAGATTCTGCTGGCCTCCAGGAAAAAAACCACTGAACGAGTGAAGCATTGCCTGCTCTGGGCACAGGTGAGGATGCTGCTTTGAGGGCTCCGGCCTCTTTCCAGCCCATATCAGAAGATGAAAAGCAGTGTGCCCTGGAATGCTTTTCATCCAATCACTCTGTGGTAACATCAAACCTTGGGTAGAGGGCCCACAGGTACACATGCAATTCTAGCATGTCCTTCCTGGACTAAACAAAGGAGATATTTGATTCCTTCTTCACAAAACCAGAAAAGGGAGGAAAAAGCTGTCTAAAATACTAGTCAGTTTCTTCCCCTTAACAACGAATCCCACTATATTAAGAAAAATCACTTTAAAAATTAGAATCACATGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACGAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAATAGCCTGGCACAGTGGCGGGCACCTGTAGTCCCAGCAACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTGAGCTGAGATCGTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATTAGAATCACATGTTAAACATACACTGAGACATTTACTACTTAAAAGAATCCTAGGGTAAATCCTTTGGCAAACAAATTATTAATGCCAGAATTTAATTTATGTATATTAGATTTATAACTGTGTTATGTTTTTCATATGCACTCATGCCTGCGTGTCCCATGGGAAGGGCGTTCTCAGCAAGGGCACTTGAGAGGGGATATGAACCGCAAGAAGGTGTCTGTCATGTGACGGTACATTAAGAAAGGCAAACTAATAAAGAAACCAAATAACCCCAAAACTTGCCTCAATTCACTTAATTCACAATTACAACAAAATTTCAGAATTACATGTTCAGAACCCAAATAAGCAGAAAATAATGAAGTGATGCAGCTCTTGGGCACGCCATCATGCTGAGGCTGTGAACTAGTTTCTGTCTATGAGCACCGTTTCCCTGGGTCCTCTGCTTGATAGGTTTTAAAGGTCCAAATATTTCAACCGGGTGGCTCCCATTGCTGTCCATGCTTTTCATCCAATTTAAGTCAGTTATTCACATCCAGTTTCTCCTGTTTGTATTACACCACCCTAGATCATTTGCCCCCCCCCATCACTCATGGCTTATCAGTGAGATCTTGCTGAAAGTCTAGAGAAGCATCCTGTGGTCAGGACTGATTAAAAATAACTCCATTCTAAGGAAGGAGATGCCCTTCTGCAATCGAGAAATCAAACACCAGGAGATTAGGTGCCTTTTAGTGACATTTTTCTGTTTTGTTGTGCTCCATCCAGAAATTCAATATAATTTATGGACTAGAATGAATTCTATAGAATAAGTATCTCTCCTTTGGGTCTTTCCTTTGCTGATCTTTGAAAAACCCAAGGCTTTTGTTCTCCTGTGGGCTCCGAAAGTCAGGACATGTTGGCAATTTCTGAAAGCATGGATTGACTCTACATGGGAACCTAAGCTTCCTGGGTTTTTGGTAAGTCCTGCCCACAACTAAGGTGATGTCCTGTGTCACCTCTCAGGCCAAGGGCCAGCAGAGCCTGAAATCCAGCCACCACCCATGCCCTTGGCCTGGGCTGCAAAGGGGCAGCACCTTATTCATACCAACCTGCTGCCCACCTGCCTTTCTCCAAGTTGTACACAGAGGCACTGCTGCAGCTTAATGGTATGTGTCCTTCCAACATTCGTAGATAGAACTTAAGCCTCAAGGTGGTGGTATTAAAAGCTGAGGCCTCTGTGGGTGATTAAGTCATGAGGGCCTCCCACTCCTGAGTGGGATTCATGCCCTTAGAAGAGAGCCGTCAGAGAGCTGCTCCCTCTTCCATCTCTTCTGCCATGTGAGGATGTCACGTTCATCCCGTTTGCCCTTCTATCTCCCCCCAACTGAGGAAACAGCAACAAGGCACCATCTATGGAGCAGAGAGCAAGGGTGCATCAGACAATGAATATGCCAGTGCCTTGAAACTGGACTTCTCGGACTCCCAAACTGTGAGAAATACATTTCTATTATTTATAATTACCCAGTCTAAGTGATTTTGTTATAGCAGTGAGGATGGACTAGGCAGGTACCACATATGCTAGCAACAGCCTTGATGCCAAACATTTTAACACAGTCCTTCCAAGTCTCTAACTGTATCTTTAAAAAATAAAAGGACAGGAACAAAGAGGTACAGAGAAAAGATGATGTTCATTGCATCTCTCTTTATAGGGAGAAAAAAATAGAAACCACTAACATTTTCAACAAAAGGGTATAATGGTAGTCACAGGTGTTACTAACCAAGTGTGTCTGGCTTCCCTGCTTCCAGGTGAAGGGAGACAGCGGCCTCCCTGTCTTTGAGGGGTGAGACCATGGGCCTGGCTTTGACTGATAAAGAGTGGGCAGAGAGGTGATGTGCCTCTTCCAGGTGGAAGCCTGAGAGCCACGGCCTGACCTCCCACACTCCTATCTCCATCAGCCACTGTGCAGTGGCTGCTCTTTGGACCTGCAGTGTGACAGCCCCTGCTGACTGGGGATGGACAACGGATGGTAGTAAGACATAAGCTTTTCTAAACCACGGAGATTCTGAAGCTGTTTATTACTGAAGCATTACAGAACTCATGGTGATTGATACAGAAATGAGCATCTGCTAGTGGTCTGCTGCTGTAAAAAATTTAAAAATAATTTATGTAGTCCTGGTATCATGGGATGGGTGGAGAGTTTGGTAAAACTACTTCCTACAAGCATCTTTCAGGGCAGGTCCTCTACTTGATGAGAATAAGTGGAGGACAAAAGGTCAGTCCTGTGGGACAGAGGGACACTGACGGCTGGGTTTGGCAAGGTGATACAAGAAAGAGATGAGCTCAGAAAAGAACTGGCCAGTTTGTAAGCAGAAATGAATGGAGTGGTCCATGCATGTAGAGATTTATCAGGCTGGAAGATGAAACAGCTTCTCTTCTCCAAATAATAAGAGATTAAGGATGGACTCTGAGCTAGAAAACCACATTTTAAAAGCAAGGAGCTAATGAAGGGCAGAACCCTTGAATTGCTGTTATAAATCACAAATGGAATAAAGGCCCAGTAATTTCTTTTTGTTGGATAAATGGCTTAGGGGGAAAAGTATAACCTAAAAACTAAGAATATGACACTTTTGGGGAAGCCTGATGAGCTCAAGAAGGCTGCAAATAAGTTGGGTGCTAGAGAGAGGAAAGTAAGCATGCTTTCTGCAACTCTTCTGTAAGTCTAAAATTATCTAAAAACCAAAAAGTAAAAAAATGTAGACCTGCATTTATTAATGCACATGGATGTTTAGTAAATATTCAGAGAGAAAAGAATATGACTAGTGTGATCTATATATTTGTAGAGCTAAATAAATAAAATCTGGAAGGACAGATACCAGTATTGGTTGTTTGGGAATATGGAATTTTGAAATTCCAATGTATTTTATTTTGTCTATCTGTGTAGTCTGTTTTTTTCTAACGTAATCATATGTGTATAATTCAAAACCACTTCATTTTTATACAAACATATATGCTTATATACTTACATATACATACTTATATATTATACAGGTAACATAAACTAAATATACTACATTATATATAACATATAAGTAACATGTAACAAGTCGTTATATATTATGTCATATATAATGTATCAGTATATATGTTATTTTTATACGTAATATCAAATATATTCGATATATGTAATTATCAAAATTATAATGACAGTATTTATGGTTTTGTGATTATGGAGTAGGTATACAGGCATTTTAAATATCTAGTCCCTCACCTCCACACTGTGAAATGGTTATCATTCACATGGCAACTAAGAAGTTGAATACAACTCACATGCTGAGTGTCAGATGCAAAGGCTGATTAAAGAAAGTCCACTCCTGCCCCACTCCATCCTTAAACATTCTTATTATTTGCTTCTGCTGGCAACCACTTAATACTTCATATCACAGGAAGCAACAATGGAAAGCTAATAATAGCAAAACACAGAAATCAGTAAATTATCTTGCAAGCAGGCAATGGAGCATATAAATTACTACTGAAAAGTAACTGAGACTGTCTATAAGATGACTTCAAGTCTATACATTTAAAAATATAAGGTATAGATGTATCCCACTTAAACAATCACCCACACACCATTTGCCTTCAAAGTTTCAAGTAATAAAGTCAGAGTTAAATCCCGTTTTATCCTGGCACTTCTCTTCAGGTTCCTTTAGGTTGAGATCATCACTTGACTATTTTTTGAGCTATATTTTCTACGAGATATCGCACGATTCTTCCCCATGTAAACTGACATTGATGCAATCGTTATGGTCAACATATACAGTGTGTCAGGCACAGTACTAAATGCTTCCCATGCATTTATTTATTTTAATCCTAGTAACAAGACACTATTGCTATCCTCATGCATGGATACCTATTGCTCTCTCTGCCTGCCTGCTTCATAGAAAACTGGCCCCACCATTTTCTGGTAGCTGTGCTCTTATAACAGGTCCCAACACTGGATCCAGTGGTTGGCTGCCCACAAGCTAGACCAGAGTACTTCTCCAGGAATTTGAAATCAGGGCTGAAAGATTCTTTTTATTTTTTCAATTTGTAAATTTTCATTTTTTGACCAGCTTTATTAAGATATAATTCACTTACCATAGAATTCACCCATTTAATGTGCACAGTTCAATGGTTTTTAGTATATTCACAGAGTTGTGCAACCATCGGCACAATCTAATTCTAGAGCATTTTCATCACCCTGAAAGAAACCCTGCACCCACCAGCCGTCACTTACCATTCCCTCCGAGGCCCCCAGCCCTAGGCAACCACGAGACTACTTTCTGTCTCTATTGGTTTGCCTATTCTGGGCATTATATAAATGCAATCATATAATATGGGGTCTTTTGTGACTGGCTCCTTTTGCGTAACATATTTTCCAGGGTCAATCGTTGTGGCATAAATCAGTTTTTCATTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCACGCCCAGGTACCTTTTTTTTTTTTTTTTTTTTTTAGTAGAGATGCGGTTTCACCATGTTGGCCATGATGGTCTCAATCTCCTGACCTCATGATCTGTCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGAGCCCAGCCCAGTTTTTCATTTCTTTATGTTGCTGAATAATAACACAATATACAATATGCCATTGTATATTACATTTTATTTAACCATTCATCAGTTGATGGGCCTTGGATTGGTTCTAGTTTTGGTTATTATAAATAATGATAATAAACACTCATGTACAAGTTTTTGTGTGAACATGTTTTCATTTCTCTTCCCTAGAAGTGGAATTACTGGGTCATATGGAAATTCTATGTTTAATTTTTTGAGCAACTACCAAACTATTTCTCAAAGAGCTGTATCATTTTATATTCCCACCAGAAACATACATTTGATAGTTCCAATTTCTCTACCTCCTTGTCAACACTTGTCTGTGTTTTTGATTCTACACATCCTAGTGGATGTAAAGTGCTGTCTCATTCTGCTTTTGGTTTTTGTGTTGTAATGACTGATGATGTTGACTATCCTTTCATGTGTTTACTGGCCATTTGTATATCAACTTTGGAGAAAGGTCTGGTCAAGTGTCTTTTCTATTCGTTATTGAGCTGTCTTTTTATTATTGGGTTCTAAGAGTTCTTTATATATTCTGGATATGAGTTCCTTATCAGACATGATTTACAAATATTTTCTCCCATTCTATGGACTGTCTTTTTGCTTCCTTAAAGGTAGTATTTGCAGCATAGAAGTTTTTACTTTTGATGTGATCTAATATATTTATTTCTTCTCTTGTTCCTGGTCTTTTGGTATCGTACAGTGGTAGCTCTCTGAAGTGAGGCAGCTACTGGTGGTCATCTGCTCCCATGTGTATGAGGAACTCAGTAGGGAGACAGAAAATGGCATAGTGAGAAACGGAGCCATGTAGGCAGACACAGGCATGGGCTTCCCAAAGCGCTGCTCTCTGGGGGCAGGCATACCCTAGACCCAGCTGCACCTGACTGGGAACCCTTGGGCATCACGGACCCCGCACCCTAGCTCCCTCCAGTTTCTGTTATTTATTAGGAAACAGACAAAGAAGCAACAAAGAAAACAAGAAATTCGACCAGCGTACCTAGTTTACAGATGAGAAAACAGGTTCCAAGAAGGTCCAGTCAACAAAGCAGGTGCTGTGGAGGGACTGTGATTCCCCAGCCTGCACCCCCAGCCTGGCCACCCTGCCTCTTTGTGGGCAGAGAAGAAACATCACAAATAACCAGACAAGCTTCTCTTCACTTGCAAAGAGATTCACAGAAAACTTTCTTTAAATAGCACACTGCAAGTGTCAGTTGCCGGGACTTTCTTACATAAGAGAGATCAGCAATTGTAGAGCCTGAAGAGACTTCATCTCTAATCCAGGCAGACCCCTCAGGACCAAGAGGGCAAATCACTTGGGAAATGCACTGTAACACACATTTCTGGAAATATCTTTGTATAGACTTGACCTCAAAGTGGAGGGGAAGGCTGCGTACCCTAACGGAGGACTCTAAGATCTCCATAGACAATAACTACTTAAAAAGACACTCTTAATTTTATAAATTCTCAGAATAAAACCTACAAGACGTATGGTTCCATGTAAAAACTACAGAGAGTAAAATGGGGCAAAAAAAATTTGGCCTGTGGGGCATGCATTTCAAGGGGTTGGAGAATAATGTTCAAAGGATGTTCCAGCTACATGCTGAAAACTTTGTCAGCCTCTCTGCAGCCTGTGTTTCAAAGACAAAAAATACCATACACATAAAGCTCTGCTCCTCGATGTCTCCCCAGGACACCTCTTTCGCACACAAAGCCGGTGCTGTGGAGGGACTGTGATTCAAACTCAGGCCTGCACCCCCAGCAGAAATCGAGAAATTCACCAGGCAGGTAGGAGCATCAGCGACCTCCCACCAATCTTATTAAGCTGGGCTTCGAGGGAGGAGGATGAGTGTCTTTGCTCCATCCCCAGGGGTGTGGCCTTAAGAGGGAGCATTCCACATGTTAGCCAGTAAATCACAGCTGCTTAAACAAAATAGCTAACTTATGTATTTGATTGTCAAAATGCAGACTCCCACACCAAGCAATCTCTGCCAACAAAGAGGATACATTTATTTTAAAAGAGCTAAAATTACTCATTATCCTGTTTTTGAGAGTCGCCATATCTGTTACATAAATATCCTTACAGCAAAGAATAGGTAAGCGTAAAGTTAGCAAAATCATTACACTCAAGGTTTTCAAAGGACACGCCTCCTGAACCTACCTGACGTAAAATATCTCAAATTATTTTCTTCTCAAGCAAATATAGACAAGGATCTTGGCTGTGAACTTCATTTCTCTGATTGCACGTGTACCTTAGAACCTAAAACTCAGAAGAGAAATTCATGTGGTTCACAGGAGGACGCCAGAATATCAAACTAGAACTGCCTGGTCACGAGCCCTCAGCAGCAGCCTAAATCCCATGCTGGAAAATTTGGATTTCATTGTGTTTCCAAAAGGAGGTCTACTTCAACAATGTCAAACTTAAAAATAAGAAACAGTTCATGGCATAAACTGTCATATGTCATTAACCTGACACCCTGAAAGAATCCATTCATTCATGGGTTATTTCATTCATAATGCATCTTTATACATTCATTGAACATCTTCCAGACAATCTTACAGGCTGGTTAGGTAGGCGAAAAGACGAAGACACAGTCCAAGGCATGAAGAGCATAGTAGGGGCAGCACTAGCCACTAGGCAGATCACCTGTTAGAGCACCAGCAAAGCAGGGACACTGAACCAAGGCCTTTGTTCAGTTTCTGGAACAGACTCCTTCATGCTCAGGACACTGAAGCCTGCTCCTTATGCCAGGCTGGCTCCAGCTCAGCATCTGGGTCTTATCCAAGCACTCCTCAGAGAGGCCTTCCTGAGCCACATCTCACCCCCGACCCTCCATCACTTCACCTGTTTTATTACCATAGCAACACCTGCCGCTTTGCAAGGATGCTCCATGCATGAATGCCAGCTCACCAGGTATCCTCCATGCCCACAACACACTGAGCATTCGGCAAGTCATATTTTTCACTACAAAGATAATGAAAGGAAAGGAAAGACAAGACAGCCAAACAGAAAGAGCTGCTAAATTTCAGAGAAATGCCTCTTTACTGTAAGAAATGTCTTCCTAAATGATTGTTCTAAAGATAACAAAAACATTATGAAAAGTCTTGAAGTTATCACCCTCATTTTTTAAAATAGCCTCTTCGACATAGTGATCGTCAACTGTTTTGCTAAGAAAGATGAAGCCATTAGATATTCACACATCCGCTCCCTTCACCCAGCCAAAGACTCTCCTAAGTTATAATACTATTTGCAAGGTTTACATCATTTACATCACATACTTTCACTGTAATTCATGCAGATGGCCTGTCTTATTTTTATGTTTATACATATCCAAGGTTTGCCACCCATTTATACTAAGCTCTGTACTTTTATTCACTTCTATTTTGGCTGGATTTTGATATTCAATAGTTTTATTCAAAACCCTTATTCAAAAGAGCTCATAGCAGCTAAGCTCTCTGATTTATGGCAGGCTTGAAAAAAATCTATTATCTTTGTCTTTATACTTGGGACAATTTGGCTAAATAGGAAATCACTGAGGGCCCCATTGTTCCACTCAGAATTTCTCAGAAACCAGTATCTTTCAGAAAGTGTTGCTTGACAGACGCTGACCCAGTGTGATTCTACCTACCTATGTTCCTAACCTTTTCTGCTTTTGTGCCAGGTAAGAATCACCATGGAAATCGAGAAATTCACCAGGATGTCAGTCAGTCTTGTTCAGTCTTTTTAATGCTTACTTTATTAGTCCATTTTCACACTGCTGATAAAGACATACCTGAGACTGCGCAATTTACAAAAGAAAGAGGTTTAATTGGACTTGCAGTTCCATGTGGCTGGGGAAGCCCCATTATCATGGCGGAAGGCAAAGAGGAGCAAGTCACATCTTACATGGATGGAAGCAGGCAAGGAAAGAATAAGAAAGATGCAAAAGTGGAAACCCCTGATAAAACCATCAGATCTTATAAGACTTATTCACTACCATGAGAACAGTATGGGGGAAACTGCCCCCAGGATTCAGTTATCTCCCACTGGGTCCCTCCCACAACATGTAGGAATTCTGGGAGTACAATTCAAGATGAGATTTGGGTGGGGACACAGAGCCAAACCATATCATTCCACCCCTGGGCCCTGCCAAATCTCATATCCTCACATTTCAAAACCAATCATGCCTTCCCAACAGTCCCCCAAAGTCTTAACTCATTTCAGCATTAACTCAAAAGTCCACAATCCAAAGTCTCATCTGAAACAAGCCAAGTCCCTTCCACCTATTAGCCTGTAAAATCAAAAGCAAGCTACTTATTTCCTAGATACAATGGGGGTACAGACATTGGGTAAATACTACTGTTCCAAAGGTGAGACATTGGCCAAAACAAAGGGGCTACAGGCCCCATGCGAGTCCAAAATCCATTGGGGCAGTCAAATCTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCAAATCCAGGTTATGATGATGCTAGAGGGGGGTTCCCATGGTCTTGGGCAGCTCCGCCCCTGTGGCTTTGCAGGGTACAGCCTCCCTCCCAGCTGCTTTTTGGGCTGGCATTTGGTGTCTGTGGTTTCTCCAGGCCCATAGTACAAGCTGTCAGTGGATCTACCATTCTGGGGTCTGGAAGATGGTGGCTCTCTTCTCACAGCTCCACTAGGCAGTGCCCCAGTAAGGACTCTGTGTGGGGCTCCGACCCCACATTTCCCTATGCACTGCCCTAGCAGAAGTTCTCCATGACAGCCCTGCCCCTGCAGCAAACTTCTGTCTGGGCATCCAGGCATTTCCATACATCTTTTGAAATCTAGGTGGAGGTTCTCAAACCTCAATTAATAATTTCTGTGTACCCACAGACTCAGCACCACATGGATATTGCCAAAGCTTGGGGCTTGCACCATCTGAAGCCACAGCAGAGCTCTGCGTTGGCCCCTTTCAACCATGGCTGGAGCAGCTGGGACACAGGGCACCAAGTCGCTAGGCTGGACACAGCTTGGGCACCCTGGGCCCAGCCCACGAAACCACTTTTTTTCCCTTGGCCTCCAGGCCTGTGATAGGAGGGGCTGATGTGAAGACATCTGACATGCCCTGGAAACATTTTCCCCATTGTCTTGGGGATTAACATTTGGTTCCTCATTACTTATGCAAATTTCTGCAGCTGGCTTGAATTTCTCCTAGGAAAATAGGATTTTCTTTTCTATCACACTGTCAGGCTGCAAATTTTTCAAACTTTTAAGCTGTTTCCCTTTTAAAACTGAATGCTTTTAACAGCATCTAATTCACCGCTTGAATGCTTTGCTGCTTAGAAACTTCTTCCACCAAGTACCCTAAATCATCTCTCTCAAATTCAAGGTTCCACAGATCTCTAGGGCTGGGGCAAAATGCTGCTGGTCTCTACGCTAAAACATAACAAGTCATCTTTGCTTCAGTTCTCAACAAGTTCCTTATCTCCATCTGAGACAACCTCAGCCTGGACCTTATTGTCCATATCACTATCAGCGTTTTGGGCAAAGCCATTCAACAAGTCTCTAGGAGGTTCCAAACTTCCCCACATTTTCCTGTCTTCTTCGGAGCCCTCCAAACTGTTCCAACCCCTGCCTGTTACCCAGTTCCAAAGTTGCTTTCACATTTTCACGTATCTTTTCAGCAACATCCCACTCTACTGGTACCAATTTACTGTATTAGTCCGTTTTCACACTGCTGATAAAGACATAACTGAGACTGGGCAGTTTACAAAAGAAAGAAGTTTAATGTGACTTACAGTTCCATGTGGCTGGGGAAGCCTCACAATCATGGCAGAAGGCAGGGAGGAGCAAGTCTGGTCTTACATGGATGGCAGGAGGCAAAGAGAGAATGACGAAGACGCAAAAGCAGAAACCCTGGATAAACCCATCAGATTTTGTGAGACGTATTCACTACCATGTGAACAGTATGAGGGAAACCACCCCATGATTCAATTATCTCCCACCAGGTCCCTCCCACAACACGTGGGAATTATGGGAGTATGATTCAAGATGAGATTTGGGTGGGGACACAGAGCTAAACTGTATCATTTACCAAAATGCAATTGTTCCTTTTGAATGACAGAGCCAAGTCTGGCCTGTATATTTACACAGTTTTCTTTTTATTGTATACTTTAATGTTCTCCTTCTTTTCTAAAACTCTTTGTTAGAAAATCAGGCCAGGTATGACGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGATGGGTGGATCACTTGAGGCGAGGAGTTTGGGACCAGCCTGGCCAACGTGGTAAAATCCTGTCTCTACTAAAAATACAAAAATTGGCTGGGCATGGTGGGGTAAATCTATAATCCCAGCTACTCAGGAGACTGTGGCAGGAGAATTGCTTGAACTTGGAGGGGCGGGGGTTAGAGGTTGCAGTGAGCCGAGGTCACACCACTGCACTCCAGCCTGGGTGACAGAACAAGATTCCATCTCAAAAAAAAAACCACATAAAATCAAATTATGGTGAGGCTTTGTTCCTTTTGTGTGGTCCTATCCTGTCCATGGTGTTTGCATTGTCAAGGAGGCTTCCTATTTTGTGGCTTCCTGGTTAATCTCTGTGATGGCATCATTTTGGTTTTTTCTTTTCCACTTTCCATCCTGAATTCTGTCAGCTTGGGCCCTACTTTCCTCCATCTCACTCGCTCCTCTGAGTCTTCCTCCTATGCTTAAATTCTGCTTTAGAGATCAGCAGTTTCTTTTTGAGTATGGAAATTTATTTTTTTGAACTCTTGAGCTGGTCACTGAATCATTCAATTCTTCCTCAGACATTTGCTTATGTCTTTTTTTTTACATTTTTGTTAGTATTTTCTTTTTTAATTTTTAAAAACTTTTAATGGACACATAACTGTGTTTATTTCTGGAGTGCAATGTAATGTTTCAATAGATGTTTACATCGTGTAATGTTTAAACTGGGTAATTAGCATACGCATCAAACATTTACCATTTCTTTGTGGTGGGAACACACAAGATCCTCTCTTCTCATAGTATATTGTACAGTAGGATAACTATAGTCAATGACAAGTAATTATACAAACTCTTTCTTTTTTATGTTCAGGTTTTTCTGCATGCTTGTTCTTTTGCAGGCCTTAGTCATCTTTGAGATCAGCTACTCATGGAAGGACAGTATGGAGAAAACGGGTGAAATAAGGTGAGAGAGTGTATGGTTCTGATTCAAATTTGCCTGGAATATTTTATCACCAATCTGTACTTTTTTCTGTCCTGGGAACCCATCTCCCTGAGCTTTTGGCCTTCAAGGGTAGCACTGGCTAATACAAAGCATTTATTGTCCCTGTCCTCTGGGCAGGGATGTGTCACAGCTGCCTCCCGCATCTCCCTCTCCCGCTTTACCCCAGGCAGGTCCCTAAGCCAGGGGCCAGAAGATGTACACTATGACTGGAGGAGGGCATGGTCCCTTCTTCATTGCTGTGCCTCTGAGTGTCCATGCATTGAACTGGCTCTATCCAAGCAGAGAAAAGTGCTCATGCTCATTTCCTTTTGCATTTGATGCCCCTGGTCCATTGTACATGCTCCATAAACATCTGTTAAATGAGTACATGATCATGTCAACTAATGAAGCAGATAAAACCAAAGAGACCAACAGAAAGGTGAACACAGGCAGCAGGCAAAGCAAACTATGGGGCAGTAGCGGAAGCGCCCACAGGTCAAGACTAGAGACATGAAGACACCCTCCCTCTCCTTGGAGGACAGGGGTGGCACTAGACCTGGGACAGGGTCTGCTTAGGCACTGTATTATTTTCTGTGGCTCCAACAAATTCTCTGACTCAAGCGTGGCCTGGCACCATCAACATGGTAAGGAACAGGTTCCAGACAGGGAGGCCTCCCACATTTGATCTTTCATCCATGCTGGTTTTGTTCTGGAAGTCACACCCTGTGAAGATGAAAGAAGGCTTCTGCCATCTTTCGTCTTGGTTCCATGGGCTTCTGCCCACTACTGGGTGAAAGCTCCAGGAAGTGGAGACCATCTTGGCATGATATGAGGATACTAGACATTGGGTTGTTCCAATAAAGATGTCAAACATTCCCAACCTTCACCATGTGCAGATACCTGTAATGCGAGGCAAGTAAATGCATGGACACTGCAGAGCCTGTCTGTGTGGACCAATGCCCACCAGCCTCAGGGTGGCCATTCCCTCTTGGGGACCTCCCCCTTTCAGTTCTGAAGAAAGATCCTATCTCCAACACAACCCAGGGAGACAGAAAACATCCAAAATGATTCTGGCACAGGCTGTGTGGAATGGGAGCTCAGAATCTAAGCAGACTCACAGAGAAGGAAAAGGCTGTTCCTTACACCTGAGTCTTTTACCTGAGACCCAGACACACTTAACCTAAGAGTTGGAAACACTTCCAAACAAGCCTCAAAGCCACTGCTCAGGGCTCAAAGTGAACACGACAATCTCTGCTGCCGTGGTAGCCTCTTCTTGCCCTTCTCTTTGTCTTTCTCATGCCCACCTGTTCCTTGTCTGGGGCATTCACCCTTCCTCTGGGTTAAGGGACTTTGGGGCATTCCAAACATACCTCAAGAGGCATGAGGCTGGTGGCTGTACAGTCTCATCACCACCATCTGCTGCTTGCTCGAGTCCAAGCATCTGTGTCCCACAGTTCCTGTTTCTTGTTCAAACTTGCCCAGGTTTATGCCTTAAATCAAAACCTTCAAGAAGGCAACAGCTGGCTCTTTAAGTCTGTAAACACTCTTAGTCAATGATTTTAAACGTTCTGTTCATCAATGCCAAATCAATACCAAATCAATGAAGTGAGACCTCATATCTGAGTCAGACACAAAAAATGGAAATGAAACATCTGTCCTTCCCTCTGAATATCTGCAATACCAATGGAGAGAGAAAGGTCAAGACAGCATTTCAGGATGTTACAATGTTTTAGGTCCTACAAAGTGCTTTCACATGCCTGAATGGATCTGTGTCTGACAATGACCTTGAGGGGTACTGTCTTCATTTTACATATGACAGAAGTGAGGCTCAGACTCGTCAATTTTGAAAGATTAGAGAATGCTGCAAAATAAAATGGCCAAGGTCAACACTGGAACTAAGCAATTGGAGCTACATCTTTTTTCTCTGCTACAGAATGAAAGATCTTAATTAAAATTGTTTCACCCTGTTGTTCCTGAACTGACCTCCCACTTATACCACAATGATGTGGTGATAGTACACAAAGATGTGAGCTCAGTTTCCAGAATCCAGTATGAAGAGACACATTTACTGAAGATGTCCTATGTGTATGCTGTGCCTGATGTCATTGTCAGAATTTTCTTAGTCATCACCATCACTCAGTGACATCGTTGCCATGTTATGCACAAGGAAAGTGAGTGTGAGCCAACAGGTTAATATTACAAACTCAATCACATTGGAGCACAGCTGAGAACATGGGATAGAAGTTTGGGATGTTAGTACAAGGGCATGGTAATCAAGGCAGTGTGGTAATAGCAGGACCAACAATGGAACAGAATAAAGGGCCCAGAAATAGACCCTCACTTACATGACCATTTGATTTTTGACAAAGGCACCACTATAATTCGTCATGGATAGGATGGTCTTTTCAACAAATGATGCTGAAAAATTTGGGTATCCACATAGAAAAAAGAAACTTGAATCCCTACCTCACACTATACACAAAAATTAGAGATGAATCACAATGCTCAATGTAAAAGCTAAACTATAAAGCTTTAATAAAGAAAACAGAATATCTTCATGCCTTAGCATAGGCAAAAGTTTCTTAGGACACAGAAACAACAACCACAAATAAAAAAATAATAAATCAGACTTCGTAAAAATTTTAAAATTTTACTTCCCCAAAAAACTAGCTGCAAGTCAACAAGTACAACAAACCTAGTAAAAATCAGTAAAAGAGATGAATAGGTAGTTCGCAAATGAAGAGTATGTGAATGATCAATCAATGTCTTCAGCATCGTCAGATAACAGGGAAATGCAAATGAGAACTGCGATGAAACCCACTACTCACCCACGCCAATGCCCTAAGAAAGCAGGCTGCCAGTGCCAAATGCTGGTGAGGACGCCCAGTGCCCAGAACCCTCAGACCTTGTGGGCAGGAGAAGAAAACAGTTTTGTAAACTTCTCTGTGACCCGATACCATTCCTAGGCATTAACCCAAGAGAAACTAAAGAATCCGTTCACAGAAAGCCTTGTACAAGAACGTTCACAGTAGCCTTATTCCAACAAGCTCCAAACTGGGAAGAGCCCAGGATTCTAGCCACAGGAAAGTAGCCAAGCAACCCCTGGCACGGTGAGGCAATGGAATGCAGACAGTGACGAAAAGGAGCAGGACACTGATAAAGCAGCGGCACAGATGGATCACAGGGGCGTTCCGCCGAGCAATGACTGCCCATTGTGGATCCCTTTCATGTGAAGTTCTAGAATAGGCAAAATTAATCTGTGATGGAGAAATCAGACAGGTTGCCTGGCGGAAGGGCTGGGGCAGGGCATGAGGGAGATTTCTGGTATGATGTGAATGTGAGTGTTCTGTATCTTGATATGGACTTGGATTACACAGGTGTATGGATTTGTCACGGCTCATCTCATTTGTGCATTTCATTTTACCTCAAAAGAAAAAGAAAAAGTTGGGCTGGTAGGTTGAGAACCTGGGCCAGTGTTGCAGGGAGCCCTTACCTCCAAGCTTGACCCAGAGGTATCTCAGGCATCCTGCCTCCTCCGCTGGGGCTCTCTTGGCCAAACCTATGTCAGATGATGGGGAGCCAGAGAAAACCTACAGGGGTTCTTGGCATGGCAACCTGAAAGGGAACCTCATGTGCTCAAGAGTGTCATGTGACAGGGAGAGCACAGGCCCATCACAACACTACATCACAATACAGAAACATTTACACGGGCACAGGAAGGAATGAGTGGTCTTTCCATCTCCAGACAGACACAAATCATTGATACTTTAAAAAAAAATAGTGGTATATTATACATAACATAAAATTTACCATCTGCAACATTTTTAAGTGTACACTTCTAAGGCATTAAGTATATTCACACTGTTGTACAACCATCAACAGAACTGTTTTCATCTTGTAAAACGGAAACTCTGTCCCCATTAAACAACAGCTCCACATTACCCCCCTCATCCCTCGTCGCCCACAATTGTACTTTCTGTCTCTATGAATTTGACGACTCTAGGTACCTCATGTAAGTGGAATCATTTAGTATGTGTTTTTTGTGACTGGCTTATTTCACTTAGCATAATGTCCTTGAGGTTCATGCATGTTGTAGCATATGTCAGAATTTGCTTTCTTACAAAGGCTGAATAATATTCCATTGTATGAATATGCCAGATTTTGCTTATCCATTCATAGATTGAGGGTCACTTGGGTTGCTCCCACCTTTTTGCTACTGCTGCTATAAACACGGATGTACAGATTTCTGTCCAAGTCTTCATGTTCAATTCTTTTGGACATACACCCAAAAGTGGGACTGCTGGATCCTACGGTAATTTTATGTTTAATATTTTGGGGAACCACCATTCCTATCAACAGTGAGCAAGGGCTCCAACTTCCCCAATTCCTTACCAGCACTTATTTTCTGTTTTTATTTTTGATAGTGGCCATCCTAATGGGTGTGCAGTGATGTTCTTGATCCTTTTTAAAAGAGGATACAAGCCTATGCTCCTTTCCCAGAGAAAAAATGAAGAGGCCTTTATTTCCAAGATGATTTCCCAGCAGAGGGCTGAGCTCCACAGCTGAGAATTGAGGCAGAGAATGCCCAGGGATGGCAGTGGAGGCTCTTTCTCCTCAAAATGCCCAACTCAAGTGATCTCCCTACACATTTGCCCACGAGGTTTGGCCAATACACATTTGATGCAAGCATGTGTATAATTTCTGGTTATTAGAAACTAAACAGATTTCTTTATGCTCCAATGCAGAAGGTAAGAAGCAGAGAATATTTACCAAATAAACCATTTCCATTTATAAAATCTGTATCCAGGCTTGAGGGCTGCAGAAACATTCTCACGAATGGCAATAGCCTTGCAGCAAGTGGTATTTATTTGCTTCCTATTGCATCAAAATTGTAGGAAAATATCCATTCTGACCACTGAAAGACCAATGCTTAGCAAATATGTATTTATGCAGTTTAACCAATAAAATGTATTTAAGTCAATATAAAAGTGTTGTAGTTACTATTTATTGACACTCTTTTAGAACCAGGCTAGATTTAAATATCTTAGAATTCCAGATATTAGCAGTTATCGAATTCCTCACTTCAGTATTTTGAGTGAATAGATCATTACAAACAAGATTTTAAACTTTCTTGTAAGTGAATTTAGCTGAAAATGGTAGAAATCTGAGAATCCATCATAAACTTGGGAATACTGGGCTCAGTTTTCACAAGCCATAGAGAAGATGGCCCTGGAGGCCCCGCTCTGCTTTTTGGGGGGTCCTCCCCTACTCATCTCTGTGCAGAGCCCACATTCTTCAGAGCCTTTCTAATGAAACAGGGAGGCCGTGGAGGGCCTTCAGTTTAGCTGCTGTAAAGCTTCCTATGATGTTTTTTCTAACTTTACATTAAGGACATCTGTCCTGAAAAGAGTAATATTCTTTAGCTTTTGCTTTGGGCAGAGTCATAATTTGAATGGCCTCAGGTGCCCTAAAACCAGCCAAAAGTGCTAACAAGAGTCACAGGCATTTCCTTCCTCTGGGTTGAAACAAATCAAACAGATAAAAGAATACATTCATAGCAACAAGGTTGGAGTTCACGGTGCAATTCTGCCAACTGCCTGGAACAGAACAAAGCAGAAAGGAACAGAACAGGAAGCTCCAGGGACCAGTGTTGCTGTAAAGAGAGATGGCAGGATGACCGCCAACAGCTCTTTCCCCAGTCAGTCTTCGTCTTGCTGGTATATGGTTTTGTTTTGTTTTGTTTTGTCTTTAAATTAATCAATCATGTTTATTTAAAGTTTTCTTAACATTAGACATTTTTAATGGGAGTAAAAATATTAGTGAACATTTTATTTCTTCTCTCCTATTCTAGCCACATAAGCCAGTTTAATGGATGGTACAGATTTCAGATGTAATTTGTAAAATATTCCAGGAGCTGCCTCTTGCTGGATCTGGTGTCTCAAGGTGTTGACAGAGAAGTTCTATTATGTATGTATTCTTTAGGCCAATTGTCGAATCCAAGCACTATACATGACTCAAGACAATGCTTATGATGGTTGACAACTTAAGTAAAGCATGCAATAGATAAACGCTGTGTCTGCTTCTATATCTGACCCAGGAAGTATGTAAAAGTGGTTATCTGCAGTGTATGAACACTACTAATTCAGGCAGCATCCTAAAAGGGTAATTGCAAATAGGACTGAGGTGCAGATGTGTGGATGAGTAAGAATCTTTCTGAATAATTAGATGCTGGCAAGACAAATGAAGTGAGATCACTGTGAAGAGTAAGTGTGAGTGAGCAACGATGGTGCAGGACACAAACTATTATGGGGAGGGGTGTAACACCCCATCCCCCAGCCCAGGGCTAAACATCTTGCCACAAGCACCAGTGGAAAAAATTAAATACATATTACACAAGGTCTGCCAGCCTGTTCATCTGCCAGGAAAAGATGACTGTCTCAGTCTATTGCTACAGATTTTGACGCTCTCCCTGTAACTTATTTTGCTTTTACCTTGGATGAAAGTGAACAAGGTTCAAACACAGAAAAAATATGGAGAAAAGCTAGGTTTACCAGATAAAACAGGATGTCCAATTCATCTTGAACTTCAGATGAACAACGAATATTTTAGTATAACCATGTCCCATGTAATATTTGACTCAAGCATATGTTAAACCATTATTCATTATTCATCTGAAATTCAAATTTAACTAGGCATCCCGTATTATTATCATCTTCCAGCTGGCAACTAAAAGAAGCACAAACTTGTTTGACCTTCCAAAAACCATCTTTCAGCTGGGCACCATAGAGAATGGTGAGGCCATGTGCAGCAAATCCCCACTGATTTTTCACCGCAAATAATAAGTACAAGGCAGCCAGGGTTGGTCTTCATTGACAAGAAATGCAAGTATGCTGTTTTATTCCCTTTCAAAATTATATATTCCACTTTGTTCTCCAAACTGCCCTATTGTTTGGACCTAAATATAGATATTTCACATACGCACACACACATATACACACATACACATACATACAAACACACATACACATATATACCCACATACAAATACATAGGTATATACATGTACACACATATATATACATACACACATACATATATCTGTATACACATACACATGTATGCATACACACATACACATATGTAAACATACACACACAGACACACACACATGGGTTGAGTATCCCTTATCCAAAATGGCAAAATGCTTGGGACAAGAGGTGTCTGGGATTTGGGAATATTTGCAGTATACTTACTAGATGAGGATCCCTAATCTGAAAATCTGAAATCCAAAATACCCCCAATGAGCATTTCCTTTGAGTATCATGTCAGCATTCAAAAAGTTTTGGATTTTGGAACATTTCAGATTTCAGATCTTTGGATTAGGGGTGCTCAACCTGTATATACACAAGTTGAGGAGACTAACTCAATATTTAAAGCATATCCCCTGTGATAACACCACCGAGAAACCAAAACTTTTTTTCCGAAACACAGCACTGTTTCATAATTCGCCTCTGATTCAAGACACATTTTCAAGCAAACTCCAAAAGTGATGTTCGGTGGTAACATTTTAAAATGCTCTCTCTAATGCAGAATTGTGGTGCAGAAGTAGTCTTTCACAATTATCCCCAGGGCAGGCCATTTTAGAATCTAAAAAAAGGGTACTTGTATAACTTAATCACTTTTCAGTTCTTCTGAAGTACTCTCCTTTTTTACTCTCTTTGCACTTTTCATGAACTTATATCACTTTAGATTCAGAAGATCTAAACAAAATTTACAGTATGGAATTTAACTCAAAATTCCTTTCTCAGAAATCCTTGCTAAGGATAATATTTTCCCAACTAATTGTATGAGGCTCATTTTAAGATACCAAAGAGAGTACAGAAAGAGTACCAAGATGCCTCATGAAGACAGACACAACAAACCTCCACAAAATATTAGCCACTAGAATCTAGCAATATGTAAAAAGAATTACGTACCATGACCAAGTAGGCTTGATTCCAGGGATGCAAGGCTAGTTTGATATTTTTAAAAATCAAGCCATATAATCCACAATATTAACAGGCTAAATCTAAAAACCACCAGATCATATCAACTGTCTCAGAAAAAGCATTTGGCAGATCCAACATATGTGCATGATATAAAAACACTCAGCAAACTAGAAAAGAACTTTCTCAAACTGATCAAGGCCATCTATAAAAAACAGATAGCTATATCATAATGAATGCACAAAGACTGGATGCTTTTTCCTTATGGTCAGAAAACAGAAAAGAATGTCCATTCTCACCATTGCTATTCCACATAGTACTAGAAGTTCTAGCCCATGCAATAAGGCCCAAGAAGGAAATGAAACACATAATGATTCATAAAGAAGAAATAAAGCTATCGCTATTTACAGATAACATAGTCTACATAGAAAATAATAAGGAATCTACAGAAAATCTTCTAGTACTAGACAAATTCAGCAAGGTCACAAGATACAACATAAACATACAAAATAAATTGTGTTTCTATATACTAGCAATGCCCATATGAAACAAATTAAAACAATATGATTCATGATCACTCAAAATAAAATGCTGGGCCAGGTGCAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAAGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGTGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGGGGCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAATAAATAAAATAAAATACAATGTTTAGGTATAAATGGAACAAAACATGTATTGGACTTGTATATTGAAAGTCACAAAGCAATGATGAAAGATATAGAAGAATAAATGAATGGAGAAACATACCATATTCATAGATTAGATGACTCAACATAATAAAGATGTCAATTATTTCCAAATTCTTATCAAAATCCCAGCAAGGTGTTTTTGTAAATATGGACAAGCTTAATCTAAAATATTTATGGAAAGGCAAAGAAGTTGGAATAGCTAAAATAACTTTGAAAAAGAGGAATTAAATGAGACAAATCATTATACCTGATTTTAAGGCTTATTAAGTAACTATAGTAATCAAGACAGTGTAGTATTGGTAGAGGAACAGACACATAGATCAATGGAACAGAATTAAACAACATAAATAGATCCATACAAGTACAGCCAACTGATACTTGACAAAGTAGAAAAAGCAATTCAATGGAAGAATCACCTTTCCAAAAACAGTGCTGGAGCAATTGCACATCCATAAGCAAAAAAGTGAACTTTGATCTAAATATCATGTCTTATAAAAAATAATCAAAAATGGATCACAGCTTTACATAAAATGCAAAACTACAAAAGTTTAGAAGAAATTGTAGGAGAATATGTTTTGTACCTAGCACTACATGAAAAGGTCTTAGATGTGACGCTAGTCACTTTTTTTAAAAGTACGTTAAAAGTAATAAATTGGACTTCAGCAACATTTAAAAACAAACAATAACAACTTTTGGTCTACAAAAATTTATTTAGCAGAGGCTAAAGGTTAGTCATCTCTACCTCAACCACTAGCACTGCCATCATCCAGGGACCAAGCCAGAGACCATGGCCCTATCCTCCACATCACCCTCTACCTCTCCACATTCAATCCACCCAAACCCACAAAGACCAGGTCTCCAAGCCAGGCCTCTCTTCCCATCTGCACCCACTGGTCTAAGCTGCCACATCTCTCTCCAGGAAGCCTGCAGAACCACCACTCCCAACTGATCTCAGGCTACCCCCACTAATAATCTTGAGGACACCCACCACTGCTCACTGATTTTGAAGATGCTACACTATTCCTAACTGATCTCAAAGACCCCCCCCCACTACTCCTAAGTGATCTTGAGGGACCCCCATTACTCCTAAGTGATCCTGAGGGACCCCCATTACTCCTAAGTGATCTTGAGGGGCCCCCACTACTCCTGATTTTGAGGGCCCCCTACTACTAACTCATTTTGAAGGCCCCCTACTAGTCCTAACTCATTTTGAGGGTCCTCCACTACTCCTAACTGATCTTGAACCCCACCTCCTTTATAATCCACTCAACAGTCAGAGAGACCTTTGCCAAATGCATGTTGGGTCATGACTGAGCCCTTTTCCTTTGAGATCCACAAATACCATAACAGATCCGATGGACTGGAGGACCCAGACAGATAGCTGGGTTGGGGTGGGGAGTTCATGACACTGGTGTGCTGCTCTCCCAGCCCCTGCTCCATGGCACTCCATAGGGACAGCTGGTGGGAGAACCAGCAGAGTGGCTGGCCAGGTGAGCCCTGGCCTCAGGGCCAGGTTCCTCTGGCTTGGAGCACCGTTCGAAACACCATGCTGGGGAAAGGGGCACCCTCGTCCTGGCCAGCAGTGGCCCCAGGCTCCAGCAACTGGATTGCTTCCCACAGTGGGCAGGCGCTGGCCTCAATACTGGATGTCACCACTATTCAGTGACAAAGCCACAAGGCAGTGACTACTTTGGGGAACAGGACACATGCTCACATTCCCATTTCTTCTTCTGTTTGCTCGTCAGCAGGATGGTATCCATGGGGCCAGGTAAGCACCTTGAGGGCCCTTGGACCAAATAAAAGAGTGGACTGGCTGTGACCAACAGGATGAGGGCTCACAACAATCTTATTTTAAACTCTAAAGGAAATGTAACCTAATTTGAGGTGGTAAAACAGTAGAGCCAGGCATATCCTGCCAAAGACACACCCCTTGCTGCAGCCTGTCCTGGCATCCACTCAGCACCTGCACAGAAGCACGTGTGAGAGCCCTGCTCTCCTCTTCTATAAACTTCTATGGCTCCATATTCCAGGGACATCCCGGCTCCATTGAACCAAAAAGTGGGTTGAGAAACTAACTTGTGTGTGTGAGGGGATTCAGACAAGCTCTAAGAAGGGTGTCACTGCACCATGGTCAGGTATAAATAAGGGCATCGGTCACCATGTGCAAAGCCTCTTGGGACTAAGTTGGGATATAAACTCTTATATCAAGGCTGGGATTCTTAAAACAACATTAAACATCTTGTAATAACTTCCCTGGGAGATACTGTGGGCACTCACTTAATAGATACAAAATATAAATGATATTTTGGAAGTTGTATTATTTACTTTAAAAAAACTTTTTTTTGTTTATGTTATTTTGTCTTGCTAGCTCTTTAACTTGACCAGACTCTAACTACACAAAATAAAATCTCTTTTTAAAATAAAAATGACCTACAATGACTAGCAATCCCCATTAAAATTTCAAGACACAGGCAGCAGTTTCTGAAATAATTGTATAGACTATTATAAAATTGAAGCTTAGGCCAGGCATGGTGGCTCACACCTGTAATCTCAGCACCTTGGGAGGCCAAGGTGAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCATCTGTACTAAAAATACAAATAAATAAATAAATAAATAAATTAGCTGGGTATGGTGGCGCACGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCACGAGAATCATTTGAACCCGGGAGGTGGAGGTTGCACTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAATACAGCAAGACTTCGTCTCAAAAATTAAAAAATAAAAATAAAAATAAAAAATAAAATTGAAGCTTAAAGCTCACTCTCTAAATGATAGTAGTCTATTCTATTAGAATGATGAAAGGTAACATTACACTCTAGAGGTTATCAAGCGTCCTTTAATGTTACATATAGCATGAAGTTAACTGGACTGTTTTTCGGTCTTTTTTTCCCCCTTTAATAGACACTGGTAGTGGTGGAAAACATGCTTTTAAGGTAAATGCTCAGGTTTCAGAAAATACCACACAAGAACAGGAAATATTAAAATGGACAATAATGCCCAAATATTTCTCTTGAGGATTTAGATTTCACATTACTCAATCTAGTACATCCCATTACGAGAGTTTCCTAAAATAACTTTATAGAATTTGCTATCTACCACGGAAAAGGAATAGAATCTACTATCTATCACTATCCATCTACTACTGAGGATACAATCTACTATGTGCCATGGCAAAGGAATACCCAAAGTCACAGGCTTGTCACAGTACCACGCTGGGAGGGCTTCTGACAGACCACAACACCCTGCTGCTGAGGAATGCCGTCACCTGTGCAATGTGGAGAACAGAAAGTTGAACCTCTGCCAAGCAACAGAAGAGCCTGTGGTCTAGGTGGACCTATTAATCATCACTATAAAATAAAGCACCACCTCCAATACATCTGCTTGGTACACAGAGGTGGGGGCTGTGGTGTGGCAGAATTGCCTGGGGTGTGTGGTCAGAAGACTCAGGCTAAGCTCCAGCCCCTTTTTCTTCGTCACAGAGTCCCTTGGCAAGGCACTCAACTTGGACTTCAACCCAGGACCAGAAGATACTGTTGGCCTCAGAGAGAGTGAGAGGTGATTCTGACAGAAGACAGAGCCTGGGTCAAACCATGAACTGCCTCGGAAATGAGGCTGCTGAATGGTGGATGTCCTCAGCGTCCAAGGCACGCTCTGAAACACAGCCCTGACGATGCAGGACACAAGGAAGCCTCGAGGACACATGCAACAAGTGGTCAGTGACAATGTGGTGGCTCTACGCTGCCTCTGCCCCTCTACATAGTCACTTCCCTTACTACCCACCGAGTCAGTGTATCAGGGACAGCATGTGCTCCGCTGGTGGATGACACTGGCTGAGCATAGCAAGAAAAAGTTAATGGAGTTGCACGAACAAACACTGAACTAAAACGTCTTCATTTAAATACAGAATCTGCCTCTGTCAAGACCAGTACTCCTCTCTCAGATTTCTAAGAGTAACTGCTTACTAAAATGCCACTGTATTCCTGCTTGACCCAAAATTAATCCAAAATATACTCCAGGGCAATCAGAAAACTTCATGTACTCTACCTGGAAACCTTATTCTAGCTTCTACCTGCTGGAAAGAGTATTTTTGGAGAGATGGAATATGTCCTATGCTGAAGACCTGCATACCTGCCACCCAGCAATTCCACTCCTAGGTCCACCCAACAGAAATGCATCCAGATGTTTGGCAGAATATGCTTTAGAATGTCTCTCTTCCCATCTCCACCCATGCTCTAGAATGTCCAAAGCCATACTGTTCATAATAGCCCAAACTGGCGACCACCTGCATGCCCATCAACAGTGAATGCTGTATATTTGCACTGCACTGAGAATTAATGAGCTACAACTACACACAAGGCCCTGTATGAATCTCACACACATAATATTGAGTGAAAGGAGCAAAATGGAAAACATGCATCCTGCATGGTCCCACATACATAAAGCACAAAACAGGCAAATCTATGGTGTTAGAAGTGAGAGCAGTGGTGACCCCAGGGGGGTATGAGGGGCTCCTGCAGTGTGGGTGTGTTCTGTGTCCTGATCTAGGTGTGGATTATGAGGTGTGCTCAGTTACTTGGCTGCATTTATTAAGCTGCAAACTTCTGACGTGGCCTTTGTGCATGAGATTCTACTGCCATAAAAAGTGGTGCAGCCAAGGACTAAGGGAAAGAGAGGCTAGCAAGAGGGAGTGCCTCTCATGCCCTGCTCCCAGAACTTGTTTTTTCCCACCAGTTAAGCCAGCAAGAGATCAGATTTTCACAGCCGGAAGTGAAGCTGAATCCCTCTGATGGCTGGTTTCAATGGAGACTGTACTATCTACTCCAGGGAATGGGGGCTGGTGGGGGACAGAGAGGACACTGCACAGGCCAGTAATTAAGGTATGCTATTTAACAATATCACAAACGCACTCTGAATTCTGACAAGATTCGTGACTCTCCAAATTTACTGTGACTCACCTGTGATCTCCTCAAAACTGTGACAAAACCCTGACCTACTTAGGGCTGGGAAAGTGCCTGTAAATCACATCGCTGCCTCCCTATTTAAAGCATGTCTCTCATGACTTAAGCCATAGTAGAACAGAAGAAAATCCCAAATCCACTGTTGGGCCCAGAATTCCAAAAGATGGGCTTATATTTGCTACCTGCTCCAAAAACCCCAAATGCCAGTGTGACATGCATCCTAATTAATGCTCTCGGTTCCAGGAAGCCAAGGGCTGAGGGAATGGACGAGAAACTGCTGTGCACAAGCCTCCTAGAAGCACTGCTCCCTTCCTGCACACATCCAGGCTCACACCACTGCTATGCAGACCCTAGTCCCCATCCCACAATAGAAATGAGAAGGAGGACAGCCAGGCCTGGCTGCCCTTGTGCTCTGTCCTCACAGCATATGTGAGGAGTCGGGAAGTCTATCCCACTGGATTGCTTTCCTGAGGTCCAAGGGGCAAAATTCCCTAGGAAGGTGGCCTGGACGCTGGGAACAGTTACCTCCCCAACTTCTGGGGGAATTTCTCTTAGAAGGTTTAGTCTTCCCAGTGACAAGACATTTTTTTTTTCTGATCATAGCATTATAACTCAAGACAATTTTTAAAATATTTTTTCTCCAAAAAAAAAAAAAAAAAACCCCAACCATTAAGCCTTAACACAGTCAGTCTTCTTGAAAACATGTTCTGGCAGTGATCCTTATTTCTTTTGACAGTGATTTTTCCACACCTATGCTACTTTTCCAGCTCTTCCTTTAAAAATGTATCATTTTGAAATGACAATCTGTACAATTTCCATTTAACACAATTACAGCAGCCTTCTAGGCCCTGGCACAGAAGCAAGGCAATGTCCACAGCTTCTGCAAACATCTGTAACAACATCACAGATGAGCCCTTGCTTGGCAGAACCCCTGCTGAGCTGGGTGACAATAAACAAACCCTGGCTGTGTCACAGTCATTGTTTTTGGTCTGTTTTGTTTTTTGTTTCATTTTTTCTGCTACGCCTAACTCAAACTTAACAGGTTAAGGACTAGCAGGGCCACCTGCATCACATAATGATATGATGTCCAGGAGCATATGTCTGTTCCCTGTGGGCAGGTTCCAAGCCCTGCACCAAAGCACTCTTTGATGGTCCCCGATACACTGGAGTCATGTTTACTCCCTGCTAAACCACACGGTTTACATTGTGAGGTTCACAGTTTACACGGTTCGCACTGTGAGGACCACCCAGCCAGGCAGGAGGGCCATGACCTCAGGGGAGCAGGGCCACACCTTCAAGTTTTCCAATCAATCAGACCTCATTAATTCTCTCTGCAAAGCCCATCCAAAGTTCTAAGGACATACTCACTTCGACGGAATATTTGAAAATCAGGGGGAAAGAGTGAACTTTAATCATCTTATCATTTAAAGACACTTTCCACCTTTTCTCTGTGCCTTTTGACCTCTAGCATCCCAGGCACCCACACTGACACAGTACAGGATATGACAGAAAAGAGAATCAAGAATCGCACACTGCGCTGGGTGCGGTGGCTCATGCCTGTAATCCCAGCTCTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGGGTTCGAGACCAGCCTGACCAGCATAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCATAAAATAAAATAAAATAAGAATCACACACTGGTTCCATGAGACCCCTTCCTGATGACACTGGAGATGCCTTCTTGTCCTTGGCCTCCTAACAGCCTGCTGTGAAGATACCTGCCTGTGTCTCCTGGTTCCTCATATACAACTCCCAGAACTCCTGATTCCATAGCCAGTAACGTGTCCCTCAAAAGGTGGAGGTTCCTCTACACAGTTCACCTTACTAAGCAGAAAACATCAATTACAAAAGCAAAACCAACACTCCCAACCTTCCGTAAAGGAAAAGACCTGATGCCACATAGGTAGATGGGTCCCACAGGAGGCCACGAGAGGCAATGCCCTGCCAGGAACAGTGCAAATCCTTTCTTCCTGTCACTCAGGGCCCTGCTTACTGCCTCGGGGACCATTCCCAGGACTTGGTGTCCCCATCTGTGAGCTGGAGACATGGCTACCACTGGCAGAGCTCCCATAAGAATTCATGTGGGATACAAGGAAGACCCTGCTACCCCCAGCAAACAGAGAGCCTCCTGTATGAGCTCTTCTCTCCTTCACAGTCGATAGGAGGCACCCTCCATGGTGGGCTCCTGAGAGAGCCCCGAAATAGGCTGCCTTCTTGCCATTCAAACCCCTTCTGGTTCCCATGTTACAGCTGGTTTAAAATAATAATTAAAAAGCAGGATTCTTCAGCATGCCAGCCATCCCTCCTCCCCAGGCACTGGGCATCCTCTCACCTGCGCTAGGCGACATAAACCTGTTTCCCTCATGGCTCTGAACACACCTTGTTCCATGTCCTGTACCTCTCCATCTCAAGGGGAGGAGAATTGAAAAGGCTGCGGAGCCACACTCAGTGCAGATTCTGGCCCCTACTTCTGTCCTGATTCTGCCCCAGGTTTCAAGTAGGTAGGGTGCACACTCGTGCACATCAGAAACCACGCGGGTAAGCCACAGGAGTAGCCAATATTTACATGCACCCACCATCTCTCTCGTCCTCTGTGAAGCTGGCCTCACGCCGGCTCCAACCACACGATGCACCCAGGGCCACAGAGGATCCGGCTCTGGGCAGGGGAATCATGCTCAGCACTTGGCCATGTTTTACAGATCCCCAGCCCCCAACCAGCATGTTGAGGCCCCCTCAGGAAGGGCTGGCCTGGGGACTCTGCGACCTCCCACTGCTCTTCATACTAGGCCCCTCCTAGCACCTCTGCAATGCCATCTTCCACCCTGTACCCTCTACCCACTCTGGCAGACGTGCCAGGACCCAGTGGTATTCTAACCTGGCCTAAGCACTTGCCAGGGAGGGCCTGAGTGAGCATGGAGCACAAAGCGCTTGGAGTGCAACCACAGACAATCCACAGACCCGTTGGGGGTTGGTGGCTCCCCCATGCAGGAGGAGGTCTGGGGACTCTACGGGACACCATGCACAAGAGAGCCCACAGGCCTGGGGTCTGATAAGGAGGATCTCTCAGGATGGCGGCCCCACAGTGTGGGATGCCAGGGACTCAGCTGTTCCAGGGGCTGCCTCCACCTGCTCCTCCCCTGCCCTTGGCTGGCTCTGCCCCTCTGCTGGACAGGCTCTCGGGCTTCAAGCCCCTGCAACTCCACAGCCCTGCTCTGCTCACCTTTGTCCTTCAGACTCTCTCTACCTCCTGTCTTCTGGGACTCTGCTCTTATTTCCAGTTGTCTGATTTCTTCCATATTTCCCAATTCAGATCCCCAAGGAATCCCACTTTCAGATATGATCAACATGACTCTTTCCTGAGCGCTTTCCACCAGATGGGTAAGTTGGCCCACTGGCCAGTCTAGAGCCTGTGGCCCAAACTGTCTTTTTCTTTTTTGGGTAGAGGTTTGTGGAGGAAGGGTATGGGATTACATATAAACTCTTTGGGTATGTTGCCAAGGACTAAGTTAAGAAAGCTGGAAGGAGCACATATTGCAGATATCAGAGTAAAATTGTGAAGGGAGCCCACTGAGAACCCTAAAGAACAGGAAAAAGGGGAGAACTCTGACAATGGAATAAGAACGGGCAGGAACTGGTATGGCTCACTCGTCTCCAATGACCTGCCAGGCTGCACTGGCAAGATTCATCTACTCAACCTGGAGCACCTCCGCAGCAAAGCCATGGTGCCCAGCCCCCGGTGAGCCCCCATCAATATCCAGTTCAACAACCACCGCACATTCAACACAGTGTCACATGGCCACTGAAACCTCGGTTTAAGAAGAATATTTATAACACGGAAAAGGCTCAAGAAATGATGTCCGTGACAAGAAAAACCAAACCAGATAAAACATTTTTTAGCATATATGATTATTTACTTTTTTCGCATATATGATTATTTATGTCTTCTCCAACGAGTAGGTATTTTTCTAAAGAGTACTTGCTACTTTCACGAGTTTAGACAAAAAGTCTGTTGAAAGAATAAGCAGATGACACAATGCCAAGGGCAGCAAGATTTAGGATAGACTAAATTTAGAGATAGAGACAATGAAAAGCCAAGGGTCGCCTTGTTGTTCCCTGCTAGGCAGGGCAGGGAAGGACAGTCCTCCTCCTCTCCCAGGCTATGCCAAGAGGGCAGGGCACCCCGCAGGCCTGCCGTAGCCTGGGCATCCTTGTGAGTGAATGGGCCTGCAAGGGGCTAGCACAGTATGTCAGGGCACACAGAGGGCGTGATGGGGCTGCAGTGGACCCTTTCCATAAATATGTGTCCCAGGTGTAAATACAGTTCATACATGCTGCATGCTTCTGAAACAATTCCACCCATTCCCAACATGCAGGAGGGCAGTGCCTAGAGCCAGGCCACTGTGCACACATGCCTGATACTGAGTTGGTTGTGAGTACATGATAGAAATGAAAAAAGGGTGTGATCATGGTCAAAGAGCAAGACAGCCGCTCTCCTCCACTAAGGACTAGTGATGTTCCTTCTCGTTCCTTTACTACGAGAAGGAGGCTATTTGTAAAGGTCCCAGGTCACAGTGACTTGGTAATACATACTTTACTCCAGGGAAGCAGTAAAATGGCCTCTGACTCCCACATCTACTGGGGTTGGTTACTGCAGGGCTCTGTGGGGGCACTGAAGGCATAAGGGTTTGCAACACAGGGAAGACCTTGCTTTGGAGATCTGAAGAGCTCTGATAATGTCGTGACCATGAAAATCACTATTACCATGGATAAGATTCACAAAGCCATGCGGACCTGTGTCTTAGTCCATTCACGCACTGGTATAAAGAAATACCTGAGACTGGGTAACTTATGAAGAAAAGAGGTTTAATTGACTCACAGTTCCACAGGCTTAACAGGAAGCATGGCTGAGAGGACTCAGGAAACTTACAATCATGCTGAAAGACCAAGGATAAGCAAGCGCGTCTTACCACATTGGAGCAGGAGAGAAAGCAAAGGGGGAAGGAAGTGCCACACATTTTTAAATGATCAGATCTCGTGAGAACCCACTCACTATCATGAGAACAGCAAGAGGGAAGTCTACCCCCATGATCCAGTCACCTCCCAGCAGCCCACACCTTCAACATGTGCAGATTACAGTTCCCACATGAGATTGGGGAGGGGACACAGAGCTAGATCATATCAACCTGCAACTTGCCCTTCAGGAGTGAGGTCCCTAACTGCAGAGTCCCTCGAAGAACACACATTCAGTGAGGCAGGCTCATGGCTTACAGGAGCGGCCTCACTGCCTGCAGGTGCTGAGCAAGGAAAGGCAGGGAAAGGCTTTGGGAAGGGAAACCAAAGGTGTCACACGAGAGGCAGGGGCTAGGGTCTTGAAGAGAAGGCCCTGCTGGGCACGCAGGGAGGGGCAATAGCAAAAACAGGGGTAAGGCAGCCATGACTGCTGTGGGATTGAGATGAGGGGGACGTGCAGACCAGTCTGCCTGGGGAAGCATCAAACCCTGAACTTTAAGTAATGGTTCCCCAGTTGTAGGTAATACTCTAAAAAACTGTGCTTTTTATTTTTAAAAAAAAACAGTTTTCTCTCACTGAGCTTGCAGAATTTAAGAAATTTCAGTCAGAAGTCCACAAATAGGCTCCAGAACATCCCAGCCATCAACCTCTAAGCTGCCTCTCTCCTTTCTTTGCCCTCCGGCCTTCCCAAAGCCTTTCCCTGCCTTCCCCTGGTCTGACTCAGCAGTCATCTCTTGAGATCATGTGCTCTTCCATATCCAATGCTTTGTATTTTTTAATCTCGTTGATAGCAAACAAATAGAGTTCTGAAAAATATGGTATGCTCAGTTGTGAAAGGCTGGTGAGTTCTTTGCCTCTGCCCAGCTGAGAGTTCCTGGAGGGGCCCACATTGCTCCAACAGTAGCTCAGCACTCAAAGTCAGAGAGCATGCACTGGGCACTCTCAGGCCTTGGCATACAAATGCACCAGTTGCTGCCCTGTCCTTTTATGGATCCACATCCCAAGCTATTTCCAACTTCAGAGTTAGAAACAGGCCTGCAGTTGCTTGTCTGTAAGGATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAATTAAGAATGCTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGAGCTTCTGCTGAGAGATCCACTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACCTTTCTCTCTGGCTGCTACCTGACTTTGAACTACACTACAAGGCTACGGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGACCAATGGAACAGAACAGAGCCCTCAGAAATAATACCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAACAAGAAATAGGGAAAGGATTCTCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATACCTTCCTTACACCTTGTACAATAATTAATTCAAGATGGATTAAAGACTTAAATGTTAGACCTAAAACCATAAATACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGACTAAAACACCAAAAGCAACGGCAACAAAAGCCAAAATAGACAAATGGGGTCTAATTAAACTAATGAGCTTCAGCACAGCAGAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAGTGGAAGAAAATTTTTGCAATCTACCCATCTGATAAAAGGCTAATATTCAGAAGCTACAAAGAACTTAAACAAATTTACAAGAAAACAATCGACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGAAATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCACAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGTGATCATTAAAAAGTCAGGAAACAACAGGTCCTGGAAAGGATGTGGAGAAATACGAACACTTTTAGACACTTTTACACTGTTAGTGGGAGTGTAAACTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTCCTCAAGGATCTAGAACTAGAAATACCATTCAACCCAGCGATCCCATTACTGCGTATAAACCCAAAGGATTATAAATCATGCTACATAAAGACACATGCACATGTATGTTTACTGCAGCACTAATCACAATAGCGAAGACTTGGAACTAACCCAAATGTCCATCAATGATAGATTGGATTAAGAAAATGTGGCACATATACATCATGGAATACTATGCAGCCATAAAAAAGGATGAGTTCATGTTCTTTGTAGGGACACAGATGAAGCTGGAAACCATCATTCTGAGCAAACTATTGCAAGGACAGAAAACCAAACACTGCACATTCTCACTCATAGGTGGGAATTGAACAATAAGAACACTTGGACACAGGGTGGGGAACACCACACACTGGGGCCTGTTGTGGGGTGGGGGGAGTGGGGAGGGATAGCATTAGGAGAAATATCTAATGTAAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACACATATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTCAAACTTAAAGTATAATAATAATAATAATAATAAAGAAAGAAAAAGAAATAGGCCTGCAGGCTCTCTGGTTTGTGGCTGGCCCCATCCTTCTGCTCACACCCACCACAACCCTGATGCATACAAAGCACTTTTACAACCTTGCTGCAGGCAGGACAATGCACCAATAAAGGGCACAGCTTCAGAAGGTTCTCACCTCAGAGAGCCACTTAAGGCTCCAAAACCAACAACCCAAGGAGTTAACATGCAAAGCGGCCCATGGTACTCTTGGAGGCCTGACAGAAGCAAATACAACCTCATTGGCCAGGCACATCCTGAAGCCAAGCCAAAAATGAGGCTGCAATCCAGTGACAAAACAAAAGCAGCAGTAATTCCCCAAGAATAAGAGCCAACAGACACAGAAACAGCAGAACCAGACAACAGCTCCCACCCCACCAACACCACTACCACCAAGCTCAGGTAATAAATGATTACTTGGAGACCAAAATAATGCTTTAAAGGTTGATTCAAGCATTTTTAAACATGATTAAAACACTAAGTAAACAGTATGGCAATATTAAAAAGACCAGGGTGATGAGAAATGAAGAGAATGTGTGTAAATGAGTACTATAATCACAAAATCAAAGACCAAGAGGCTGGTTTTTAAAGTGGATTTGACATGGATTAGGTAGAAGGTAGATTCATGAAGTGGAAGGATGCATTGAGGGAATTATCCAGAATGTACCAAAGAGAGCTGGAAGAACAGGTAATGTGAGAGAATGGCTAAGAAATTAGAAGATGTAATGAAAAGGATCAATAAATGACTAATTGGAGATGGAAAGAAAAGAGAGAAGAGGTAGCAGGCAACCTATGAAGAGTTAGTGGCTAGTAATGTCATAGAATCAATGTCATACATGGATTCTCTACTTAGGAAAGGCCAGAGAAACTGATGGTTCATTCTCTAATCTTCTCAAGTAACCCAAAAAGATCAAGACGGCTAATTTTCCAAGATATCACACATTCTGGTTGTACAGGTGACCCCAGGATGTAGTGTTTTCCAAACACCAGTTTATTTTGTCTTTTCTCCACATTTGCAATAATACCATGATGGAGTTGGATGGAGGTGATCATTTGAACTAATCCTTTGGGTCCTGCTGACCTCCTGTTTACAGGGATGCTAGGGCTTGGCCCTTCTGGCTTCTCTAAAGCCAGAGTTCACCAGTTACACATCCCCATGATTGACAATCCCATGTGAACTCTACAAACTTGGAGGCAGGCAGAGAAAGAAAAGTATTTAGATACTTCAACTGATTGCCATTTTGTGTTTTGTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGACAGGGTGTCGCTCTGTCGCCCAGACTGGAATGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCTAGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGAGATTACAGGCGCGCACCACCATGCCCAGCTAATTTTTGTAATTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCATGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCAGCCCTGACTGCCTTTTAACGCAAGGTAGACTTTTTGCCAGCAATTGAAGACAGTAAGTGTGGGTGCCCTCTCCCTTTCACACCACTTGCTGGCAGGAGCCCCAGGGGCAACAGACTGAAGGAAGTGCCCACAGGACATTCCACAGTAGGCCAGGCTGAAGGGAAATCTTCATCAACTCTTGTTCCTTGGAATTTAGGATTTCTCACTTTTAAGTCGCCATGGCCTTTGAAACTAAGTTTTGCAGATGGAGAAACTAAAAAACTAAGGGTTGTTAACATATAACTATTTTAAACTGAGAATTTAAAACAAACAAATCTCAAATTATTGCAATAAACTATTCCAAAATACAGTTTGGGTTCACAGATTTGTAACTACAAATAGCTTATAATACACAAAGTTCATAACCTTCAACTTGATCTGATAAAGTACCTACATGCCTCCTCCATACAAAGGACCAAGTCAGACATTTACGAAGACAGCTTGTGCCATGTGAGTGGCCAACTGGCCAATTCTGTGCTCCTCAATGGGCTCATCTGTGAAGTGGGCTTGAACACTGATACCTGCCTGGCAGGGTAGCTGTGAAATCTAAACTAGATAATATAGGCAAAGCACTTGGCAATGATTGCTACTCTTATCACTTAGAAATTACAGCGCTAATTTAATATTCATTACATTAATGATTTAATTAAATTACTAAAGCAGTAAGAATTCATTCAAGGTTATACTGATGAATACCCAAAAGGTCACAGACTTCCAAAAGACAGGTGGTCACTCCAAGGCCACCAGGACCAGGCAGTATACAGGGACAGGCTGAGGAGGTGGGGAAGAGTGGGGACAGACGTCCAGGGTGGTACCTGCCACCTCCCTTCCCCCCAGGCTGCTCTGCAAGGAAGGGCCTGGGTGGCCCTCGCTGGGATGCCAAATCTCTAATACAATAGCTTGTCTAATCTAATAAAAGAGCCTTTGTGAAGAATTGTTCTGGAGTCAAACAAAAACTCTTCTTGGAAAAGGAGCCCTAAAGTTACTACACAATGCTCAGCATCCGTGCAAAACAGTGACCTATTTCTCAAAGCACAAGAAGTCCCCAAAGATTACAAGCAAAACCCCTCAGCATCCACACAATCATCCAGCAGACAGCAGCTTCTCAGCTTCGAGCAAACAATCTACTCCTCCACACTTTCTTTGAAAGCCCCAGAAACAATGAAAAAGGAAAGGGAGAGAGAAAACTAGAAAGAGAAATATATTCCACCCCCAACAAATCAAGGAGACAGACACAACCACAAGCCACAAACTACTGAGTGTACCAGAACCAATGCAATCAGGAACAGACACAGAGAGCCAGCACCCACCTCCTGAACCTGGGGAGGCACATGGGCCCCGCCAGGAGAAATGGCCTAGCCCCAATGTGGTTGGTCATGAAAGGGCTGTGTGGATACAGAAGCATGGCCACTGAGCAGGCCTCAGCCTGTGGACTCGGCCTTGTACAGAGAGAAAGGCAGCAAATGTATGACAGAAACACAAGAGGTCTGCTATGAACAACACCCAACTTAAACCCTGAAATCTAGGGAACACAGCCTGCCTTAGACAAAGGGAATTCATGTGGAATAAATGTATTTCAGACCACAAACTTGAATCCAGTGTGCATCCCGCCCTGGCTTCACCCTCATCCTTCTTCTTCAACAAAGACCTGACCCCATTCAAAAGTGACTAAAATCACAAAGCAACCAGCATGGGAATCAGGCACAGAAGAGAGGGTAGGGAAGGAGAAGAGCAAATGCAGATGCCTGAGAAAATACCCATAAAGAAACAGATAAAGTGACTTTATAAAAATATTTCCCATTTTTTCTATTAGTTTTTTATTACTACTGTAACAAATTACCACAAACTGAGTGGTTTCAAGCAATATAAATTTATTTTCTTATAGTTTTGAAAGTCGGAAATCTAAAATCGGGTTAAAATCTAGCTGTTGGCAGGGCTGCATTCCTTCTGGATGCTCCAGGGAGGATCTGCTCCTTGTCTTTTATGCTTTTTAGAGGCTGCCCTCATTCTTTGGCTTATGGACCCCTTCCAGGAAACACATCACTCTGACCTCTGCTCTCACTGCCACAACTCCTATGCTTCCCTTGTGATGACCTGGGGCCCACCTGGGTCGTCCAGGATCATCTCCCTGTCTCAAAGACCTTCACTTAATCACACCTGAAAACTCCCTCTTGCCACATAAGATGACATATGCAGAGGTTCTGAGAATTAGGACAGGAACATCTCTGGGGGGTCATTATTCTGCCCACCATAAAGAGAAACGTTTCCCTCTTCTTTTACAGCTTCTGAAACCCCCATATGCTTCAGCTCTTGGTCCCCCACCTCCAATGATGTCAGGCAAAGTCCTGAAGCTGCCATCACTCTGGTTCTCATCTTTCTGCCTCCCTCCTTCCACTTTTAAGAAAGACCCTACTGATTATATTGTGCCTATGCAGACAATCCAGGAATAGTCTCCGTATTTTAAAGTCAGCTGACTAGCAACCTTAATTCCATGCTCAACTTCATTTCATTTTTCAGTTCCAATTTCCTGCCATGCATGGTAACATATTCACAGGTTTGGGGGATTAGGATACTGACATCTTTGAGGGGTTGTCTTCCTGCCTACCACACTTTCCTAAAAAGGAAAAAAAAAAACAACAACAACAAAGAAGAGATCATAAACCAACAGAAAGAGAATCAGAGCATGGAAAAGAAATGAAGAAATAAAAATTAAAATAAATGGAATAGGGATGAAAACCATATTAGATGCAACTAAATAATAGAATAAAGGCAATCAACCCCAGAGATAAGCAAATGAAATGGAGAAGAATATGAAATATCAACTTTATCAAAGAGATGACAAATATAAGACAAAAGAAACAATGTGCATATAATTAACATTCTTGAATTGTTAACAGAAAAAAGGTCATAGATATAATACAAGAAAACTTCTGAAATAAACTGACTTATCTCTGTCAATTACAAGGGTTTTACTTTACTTAGTTTAAAAGAAAGTGATACAGCAATACCAGCATCCAGAAACATTCAAGTAAATTAACCGAATTAAAAGAATCACATGAACATCTAGGCAAAACAGGCTGACTTCAAATTTCTCATAACTCTGTGCTAAAAGACAGGAGAAATATCTCTATATAGTTTTAAAGGAAATTATGCAACTCAAGACCTTTATAATCAGGCAAGAGTTATTTTCAAGCTTGCAAGAATTCTTCAAGTTTGAGTGTGCCATGAGCCATGTGAGAAGAGAACAAGAAAGGAGGAAAACAGAGCCAGGGATTAAACAAACTATACAATGAACTCCAGACAACCGAAAAACAAATCGAAAAAAAAATCCTCAAGAATGTATCCACTGGAACTACTGATAAAAAGACTGATACTGTGTGATCCTGGAATCTATTTAAACAGAGCACTAAGAATAAGTAACTGTGGAAACAAGTTATCTAAGAGATGACCCATGTTATGTTCCTTGACAATGTAAAAAGTTATAGGGTGAGTAACAAAATAGGGAAATGGGTGGGAGGAAAAGGAAGCACTAATATGCAAATTTAGTAACCTTTCAACCCCTGAGTGAGCAGATGCCAACCCTAAATACACAGTAGTTTGCAAACAGCAAATGCAACATTAATAAACAGCAACAAGCAAACAGGTATTTCATAGGTTTCCCCTAATTTTACAGGGATTGAATGGAGGCTATAGTTGCTCCCCAAATCCATCTCTTGTTCCTGGGCACTCAGCTAACCCACAGGACTATAAATTGAGTGGCCGGGGGACATTACTTCCTGCACATCAGTTGGCTCTGCTATAGGAGCCATGCCTGGGAGGGGCTGCCACGTCAATGGTAACTCCAGGCTGGTCTACCCAAACCAAGAAAGGGAACTTTTAGAAACTTTTATGCTCTAAGAAATAAGACATGTAACTTAAATTCAGCAAGTCTTTAATCACTAAATAAAAATATAATTTAACTGAGTACTTTTTTAGTTAAAATAGCATGTATTGTAGACTAAAAATGTAATAATCTCCAACAAGTATTCTATGTATGTTCCTATGTGTTTAATAGTCTTGGATATCCACAGACCATTTCTAGAAAGATGCACAAGGAGCAATTAGTAGTAATGCCTCCTGGGAAAGGCATGGGGATTGAGGGAAGAAAATGACTCCCATTTTACTGTTTTGCTGAACTTATTCTTTTAACCTGTGCAAATATTAGATTTTTTTTCATGAAAAATAAATAAGCAAAGGAAAGAGTAAAAACTAGTATGACTCGATTTTTACAGAACAATGTACTCCCACTGCCTTGCTGTATGCACAGAGAGGAACAAAATGCTGAGAGTGTGGGGTTTGAGAAGCTCTGTATTAGTTTTATCTTTGTAGATGTCACTGTTTTTCATGGAACATGTTTCACAAAGTTTCCCCCAAACAGATGGTTACACTCAAAACACCACAAGCAAAGTGAAGCTCACTCAGGACCGGCTTCTTCTCAACCCCTCCTCGCCACACGTTAATTAAACTCATCTACAATCTATGTAAAAATTAAAGTGATGACGCACAGCGGACAAAGGTTTGAACAATTCTTTGGTATGCTCCCTAAAAAGGAAAGAACACAAGGAAATTCTGACGTCTGCCCAACGGGTCCAGATTGTCATTTCTGGCTCTGAGCTCTTTCGCAGCCGGGAGCATCACAGAAGTTGGTGGAGAAGGGGCTTGTTGGACAGAGCGCTGTCACTGGGCCAGCCCCTGCCCACTGAGCCCCTCTCTTTTTCCAGGTGACCTTTCTCTAATAGTTGACGGCCGGCAAACGCCAACCATCCCTCTGTTGTCCTCACAAAAATAATCCTACAAGAACAATCCTGAAAGGTACCTAGTCTTACCCTCATTCCACAACATGGAAATAGAGGCTTAAAGAAGTGAGACACTTCCTTGAGACGCCTCAGCTCCCAGGCTGATTTTAGACCCAGCTCCTGGCCCAAACTTGCCCCAGCCCTGAAGAAAAAATGAATGCACCTGGACAGTCTGTGCTCTGTCCTGAAGGAAGAGGGGCTAGGAAAATAGCCAACGAGAGCCCACGGTAGCACCTAGGGCCTGCTGTCACCTGTAAGGCAGATGTCACATACAGGGACACTGGAGCTGGTAGCTGAACTGCCTTAGCCAGGAGCCGGGCCTCCCAGCAGGAGGCAGCACAAATGGAAAGCAAACCCAGTGTGGGGGCAGGGGCTGGGAGTATCTCACTCTCACCCAGGCCTGGCCTGGGCACTCGTAGTCCCCTCTGCTGGCACTTGGGTTCTCACGCCCTCCCCCTTACACACTCGGGAAAGGAAATCACATAGGGATGGCAAGCTGTCCTGGGAGAAGCCTGGGACCCAGGAGGAGTGTACAGATAGAGTAAATGCAAGCCACAGGGCAGTCAGCGCAGCCTGAGCCGGGCCCCTCGATGTTAGGAAAATTGTGACATAAACAGCACATGCTCCAGGGCGGGGATGACATGTGACTCCAGACTGCCCCCCACGTCCTTCAACACTTGGCTTTCCCTTGCTCTGCTATCCTGGGCATCTCCTGGACCATGAAGGGTATTACCACTTGATTGCTCACTTTTTCTTAGTAATGTCTACTTTGGACTTTCAATTCTGAAAAAGGGCTTTTCTGCTGAGACTGCAGCACTGAACCACAAGCCCTCTCTATTATAATGTGTGCAGTAGTTCAGTTCCTTCTTGGGCAACTTTTCCAAGAGAAAGAACATTGAAAGGGAAAAAGAAAATCAACAAGGGAAGGTTAATTACTTAAAACCAGTAGTACTTTACGAAGAACGCATGGTTTCCCACTCAACACCTTGGGGACAAAAGTATGTATATCACTGTGTCGTGGCACTGTTGTCTTCCCGGAAAGGGCAGAACTTATTCTCCTGCCAAGATAAAATAACAAGGGGGCAGGTGATAAGGAGTATTGTTCAGGGGCAGAAAGGTGAGGTCAAAAGGCCCGAGCAGCCCGCTGAGGACCTCTTGGAGCAGGGAGAGAGCCTATAAGACAGGTGTGGCAGGTAGCCAGAGGGCAAGGGTGGCAAGGAGACTGAGGCGGACCACAGCCACTGACCAGAGTAGTCATAGTCAAGATGTTCTGGGAGGCCTGAATGCCTGAGCCCTGAGGTCCAATGCCTCTTGCTGTGCAGTGTGGCTAGCATGGAAGGCTTCGTTCAAAGATCCCTCTACAAAGGGGAAATTCCAGACAGAGAAAATTGGGGCCAGAGGAAGAGGCAGCAGCTCAGCCATGTACATCTGCCAAATGCCCAAGTGCAGGGGGATGGGACCCACCTTGCAGAACAGGGCAGCAGGAATAGTTAAGGGCACAAAGACTCGTCCAAGGAAAACACTATTAAGGAGGGAAAGCAGGTGTTTGCTCTCACGGATGTACAATGCTATACAGATGCTGCTGCCACAGAAGACAGCAAGCCTAGAGACACAGGAGAATGAGGCAAACATAACAAGAACAACGGCCAGGTTCCCCGTCTTGCCTCACATCCCCATCCCACTGCACACCACCAACCCGGCCAGCCCCACCATTCACTGGGCTAGCCGCTGTGTTAGCCTCGGCAGAGTCAGCCTCACAGTCTTCATTTCAGCCTCTCACAGACGTCACTAAAATGTCAGGGAGGCAGTGGTGGAGCCCACCAGACCAACTATCACCAGGTGAGGGGCAGTCACATGGGGCCTGAAGACAGGGCATCCCAAGTGTGCCAGTCACTCTCACCACCGTGGAAAACCACAAACTGCCATCCTCAGTCTCCTCAACTGTAGAATGGGAACAACTTCCCTCCTGACAACAGAGTTATTGGGAAGATCAAATTAGATAATCTACACAAAAGTATTTTGCAAACTGCAAAGCACTATAAAACTGCAAAGACATGATGATATGCTGTATGCAAGTTAACAAACCTGGCAAACAGTTTGATTTCCTTCTGCATGGCTGTACATCTTACTATTGTTTGTTTTACTAACAAAATTGTATTTTTTTGTTGTTATTTTATTTTTTAACTTGACAAAACTGTATGTTTTTGTTGTTTATATTTTGGTGTACAACACATCATGTTGTACATGGAAGGGCTAAATAGAGCTAATCAATGTATGCCTTACCTCACATGCTTATTACTTTTTATGGTAAAAACACTTCAACTCTACTTTTAGCAATTGTCAAGTCTATAATACATTGTTATTAATTTAGCCACCACATTATACAACAGATCTCATGAACATAAACATTTGTAAGCCAGCTATATATTCAGTTAAGTGATATAAAATTATCATTTGATCAAATAGTAAAGGTTCTACCAGTTCACCTTGCAGATGTCTTTCAATTTTCTGCTTTAAGGAGACCAACTTTCTTTCCCCCTTGTGGGATAATATATAAGAAGAGAAGAGGAACTCATGGTCCTCCCTGTTTCTCCTGGACCTGTCTCCCTGCATTTATAAAGTTACAAGAACTTCCTTGAAGCTAGTGGTTCTCAAACCCAGAATCAATAGGGGCTTTTATAAAAGTCCCAATGGGTTCCAAGGTTGCGGCTTGGTTGCTGATATCAGAACCTCTAGAGGAAGTGCCCAGACATTAAGATTTTTAAAGTACCCCTATCGTTTCAATAGGAAGTGGAGGACCTCTGGCCCGGGCCCTTCAGAGAGCCAGGACAGCCGCAACTCTGAGCACGTACCCAGCAGTGACACAGGCCTGGCAGTGGTATCTTCCTTTCTGGGGAGATATTAAGAGATTTTGAGGTTTAGGATTTGCCACCATTTTTTAACATAGGAAGGTATTGTAATCAATTATCTTAATCGATCACATGTCTTTTCTTCCATTATGAATTTTCTTTTTTCCTTAAGGATTGTTTCAAATATGACATATCCATGTGACCTTCCATTTTCTCTTTTCTATCACTAACATTTTCAAGGTAGTACAACTAATTTATTTCATTCTTAAAAATCTATGGAATGGAAAATCTGAAACTATAATTCTTCTTTGAACTCACACTCTGCTGTATGACAAGCAAGTCCCATTACAACTAATCAGTAAATTATCTGGTTTTTGTTTATTTGCAACCCAAGTAAACACAATTTTGCATGCCACTGAACTGCAAGCTTAAGTATGAAATGTTTCAAATTTTATATAAGCAACTTTCTCAACTGCGATGCTTTTGAACTCATGGGAGCTAAGCAATTCGAGAAAAAATGATTAAATTTCTAATTTTAATTCCCATAGAGCTATTAAATGCATTTAACAAACATGAATGGAGAGACTGTTCTGAACAAGGTGCCTCAGAGATGTAATAAAAAATAATGCATGAGCTTCTCCTCAAGGGCTTAAGAGTCAAAGGGAGGAACGATGTCCACACAACTCATTTCTAATTATAAATACTTGTTCAAATGCTCAGTATTCTCCTCGACCCCAGAAGTGGAGATATATATATATATATATATATGTATGTATGTGTGTATATATAGATGTATGTGTGTATATATATATATATATATATATGTATGTATATATATATATTTTTTGGGACGGAGTTTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCATTGCAAGCTACGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTTCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGGCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACACCCAGCCAGAGATAAATATTTTTAAAAGACACCTAATTTTTCCTACCTGTTCTCTCACAGCATTGAGCAGGGCTTCCCTTCCCCTTGATCACTCAGCACTTTGGGAGAACTAGGGAACTAATTTTGTACAGAATCATGGAGTTGAAAGGGGTATCAGAGTAGGCAGCTGCGGTTCTTCATTTCACATGTTCAGTTAAGACCTAGAGAATATCCCCAGAGTGGGGACCCAAGCCAGAATGAGGCCTCCTCTAGGCTGGGGGCACTTTCTTTCCCCAGCCTGGACCAGGTTCTCTAGTCACTAGTCAACGGGCATGGAAAGAGTCTAATGTGAATGCAACCACACACCGATCTTCTAATAAACCATACATGCTAAGCAGTGGGCTGGCTCACCTGTATCCACTCCTTTTCTAGGCCCCTGAAGCACCTTTTCTGATGATGCATTTCTGAACATACTGCTTGCCAGATTGTAAATGGGATAAGTCAGCTTTGGTAGAAGAAACCTTGTCTACCTCTTCCAGAACAGGCAGAGGACCCTGGAGGGATGTCCCAACTGGTTGCATGCCGTGTCTGAGAACCCAGAGTCAGTGGGCACTTAAAACCACGTGGACCCAAGAGCTGAGTTCACATTCAATACCTCAACAAGGTAGAGACAGAATAATCAAGAGATTTGGGGATGAACTGCAACCCATCCTGGCAATTCTAGGACATATTTCCAAGGGATTAAGTACAGCCTTTCAATGTGCCTACCCAATAGCTGCAGACCCACAATGCCAAGTTAAACAGACAACCAGAGAGTTTTCACTCAATCTAATAATCTAATGCTGTACTTGCAAAGGACCCACATCCTTCCTTGGGGGGACCATGTCATCCCACAGATGGCACAGACACCCCTGTGTCCTTCACCATGGCAGTCAACACCAATGGCAAGAGATGGCCAGTGGTCTCAGAGCCAAGGACATGCTCTGGGAGCAGCTCTAGGCTCTGCAAGGGAATATACTTAGGGTGGGGGTGACAGTGCAGACCCTAGCCTGGTGTCATGCCTCCCCCAGGGGAAAATGCCAAGACCACCCTCTCTGGTAGTACCTCAGGTCACAGTCACTGCCCACTCTCCTCCCTGAAATCTACTCCCAGGACTCTACCTTTGGAATGCTATTCTTTTCCTCTCTCCCACCCCCTAGTTTTTCATGTAAAGGACTAATCTTTCATCATCCCCAAGGATAAGGAAGTACGTTCTGTAATGATCCTGCCCAATGAGCCCTTGTATGCCTGTTATTCTTATGCACAGCAGCACCTGAGATACAGGAGACATAACCGGCTTCCTGGGGAGTTCACTATCTACTCTGAGTGAGAGGAACTTCACTTAGCATGGCTTAACAGAGCTTGCTTGTATTAGTTCATTTTCACACCACTGATAAAGACATACCCGAAACTGGGAACAAAAGGAGGTTTAATTGGACTTACAGTTCCACATGGCTGGTGAGGCCTCAGAATCATGGCGGGAGGTGAAAGGCACTTCTTACATGGCAGTGGCAAGAGAAAAATAAGGAAGAAGCAAAAGCGGAAACCCCTGATAAACCCATCAGATCTTGTGAGACTTACTTATTATCACGAGAATAGAACAGGAAAGACCATCCCCTGTGATTCAATAACCTCCCCCTGAGTCCCTCCCATAACATGTGGAAATTCTGGGAGACACAATTCAAGTTGAGATTTGGGTGAGGACACAGCCAAACCATATCATTACGCCCCTGGCCCCTCCAAATTTCATGTCTTCACATTTCAAAACCAATTGTGCCTTCCCAACAGTCCCTGAAAGTCTTAACTCATTTCAGAATTAACTTAAAAGTCCACAGTCCAAAGTCTCATCTGAGACAAGGCAATTCCCTTCTGCCTATGAGCCTGTAAAATCAAAAGCGAGCTACTTACTTTCTAGATACAATGGGGGTACAGGTATTTGGTAATACAGCCATTCCAAATGGGAGAAATTGGCCAAAATAAAGGGGTTACAAGGCCCAGGCAAGTCCAAAATCCAGCAGGGCAGTCAAATCTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCACATCCAGGTCACGCTGATGCTAGAGATGGATGCCCGTGGTCTTGTGCAGCTTCACCCCTGTGGCTGTGCAGGGTACAGCCTCCCTCCTGGCTGCTTTCAGGGGCTGGTGTTGAGTGTCTATGGCTTTTCCAGGTGCACGGTGCAAAGTGTTGGTGGATCTCCATTCTGTGGTCTGGAAGATGGTGGCCCTCTTCTCATAGCTCCACTAGGCAGTGCCCCAGGAGGGACTTGTGTGGGGGCTCTGACCCCACATTTCTCTTCTGCACTGCCATAACAGAAGTTCTCCATGAGGGCCCCACCCCTGCAGCAAACTTTTACCTGGGCATCCAGGCATTTCCATACATCTTCTGAAATCTAGGTGGAGGTTCCCAAACCTTAATTCTTGACTTCTGTGTACCCACAGGCTCAACAGCACCTGGAAGCTGCTAAGGTTTGAGGCTTCCACCCTCTGAAGTCACAGCCTGAGCTCTATGTAGGCCCCTTTTGGCCACGGGTGGAATGGCTGAGACACAGGGCACCAAGTCCCTAGGCTGCACACAGCTCGGGGACCCTGGGCCCAGTCCATGAAACCACTTTTTCCTCCTGGGCCTCCAGACCTGTTCTCCAGAGGGGCTGCCATGAAGGTCTCTGATGTGGCCTGGAGACATTTTCCCCATGGTCTTAGTGTTTAACGTTAGGATCCTTGCTACTTATGCACATTTCTGAAGCTGGCTTGAATTTCTCCTCAAAAAATGGGGTTTTCTTTTCTACTGCATTGTCAGGCTGCAAATTTTCTGAACTTTTATGCTCTCTTTCCCTTTTAAAATGGAATGCTTTTAACAGCACCTAAGTCATCTTTTGAATGTTTTGCTGCTTAGAAGTTTCTTCTGCCAGATACCCTAAATCATCTCTCTTAAGTTCAAAGTTCCACAAATCTCTAGGGCAGAGGCAAAATGCCACCAGTCTCTTCGCTAAAACATAACAAGAGTCACCTTTGCTCCAGTTCCCAACAAGTTCCTCATCTCCATCTGAGACCACCTTGGCCTGGACCTTATTGTCCATATTGCTGTCAGCATTTTTGTCAAAGCCACTCAACAAGTCTCTAGGAGATTCCAAACTTTCCCACATTTTCCTGTCTTATTCTGAGCCCTCCAAACCGTTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTCACTTCCACATTTTCGAGTATCTTTTCAGCAATGCCCCACTCTACTGGTACCAATTTACTGTATTAGTTTGTTTTCACCCTGCTGATAAAGACATATGCGAAACTGGGAACAAAAAGAGGTTTAATTGGACTTACAGTTCCACACGGCTGGGGAGACCTCAGAATTACGGCAGGGAGCGAAAGGCACTTTTTACGTGGTGGTGGCAAGAGAAAAATGAAGAGGGAGCAAAAGCAGAAACCCCTGATAAATGCATCAGATCTTGTGAGACTTATTCACTATCACGAGTATAGCATGAGAAAGACCAGCCCCATGATTCAGTTACCTCCCTCTGGGTCCCTCCCACAACACATGGAAGTTCTGGGAGATACAATTCAAGTTGAGATTTGGGTGGGGATACAGCCAAACTATATCATGGCTAATGACTTTTAACTCCAAGAATCCCCAAGCCACAGAAGCCCCTCCATTCTTTTTACCCACACCTCCTCTTCCTACACACACACACACACACACACACACACACACACAAGTCAAAGCAAGTTCATCTAAGCAATGCCTTGGTTACAAGTGCAAACTATGACTACATCAACTGTCAAAGGATAGAAACTGGGCTGATGGTAAGTGAGACAAATACTGTCTCCAGTTCCTTTTATTGAACAACTTATCAATCTAGAACTTAAGAACCCATGGCATACACTCACTCATCTGCTCCACCCTAAAGCCTACAGGATGGCCCAAGAGATATTCTGCCCTTGTGGCCCCCCCCTGGGGTTGTGCCCAAGGTCACACAACTGGTCATCAAGTCCAAGTGAGCTGGAAGCATGTCTCATTTATTTTTACTGTTCAGTGATGATTCTTTCAAGAGATGGTATATTATTTAACAGACAGTCAAAACAAATACTCCAATTCATACATTTTAAAAAGAAAAAGTTAACTATGTACCTCTTGGATGTCAAACAATTTTTGTAAAAGGCATGAAAAATTATACATGCAAATGTGTTGCCCACACTACAATAACACACGTTGTCTTGAAACCTCAAATCATCATTAGAGGAATTGTGAGGAAATGGGCTGCAACCATGGTATGGTTTTTAGACCCCCAAGATAAAAGGGTATTGCATGGACTTCAGGGATGATGTAAGGTGATCTGGGGAAGGAGGACGTGCTGAGTCCCAGGACACTGTGCATTGTGTGGTCTCTTCTGCAACGAAGACATGACAGGCTAACAGGCTAACCCTAAGCTTACTGTAAAAACTCGGAGAACTTAATTCATAGAAAGTTCCTAAAATGTGAGCGCAGAAATTATTTGGGTAAATTATTTGAAGATGGGTGTGTTAGCCCTGGGGGCATGAAAACTGGGGTCTTCTCAGAGGTAGCAAGGTTCAACCTGTCTGCACCACAGACAGACGTCTGCTCTCACTCCAGGCAGCCACCTCCTCTTGAGTGAGCTCCTAAACCTTTGTCTCAGTAACTGAGAAACTTAATCTAATCTCACAGAGGGATGGGTGTATGGTCTGTTCACACCAATCCCCAGCACCATGTGAAACTTAACAGTAATCTAATAAAACAAATGAAACGCTGAACAGACAAGGAAATGAATTTCCAAGGTCTAATTTTATATTTCATAAAAGTCAATACTGCATCTTACTCATGTGTATTCATTCAGACATCAAATTTCCATTATATTTATAAGGAAAACGAGATTAAGAATAAAATATGCTCAAATAGAAAATATTTCCTTGGAAGGAGAAACGCAAAATACTTCAATCCTACAAAATGAGTTTACTTTAGACTTATCTACTTAACTAAGAGAGATGTATTTAAAACTTGTATTAGCATTAATGTGTATTTGACTTCTCAGAATGTGAGATGCTGTAGAGCAGTAATTGCTAATAGCAAGGACTGGGGTTTTGTGGAATCATGCAATTTTACCAAACAAGGCTTTAGATGCATGGGAGACTAACTCTTTCCCTTTGCCAAGAGGAACCTAGAGCACGACAGGCCAGACCTTGGCCAGCTGTAGCTGCTGCATGGCCCACTCCCTCCCAGTCCTAGTCTATACTCCCCCACTTCCTGGTCCAGAAATGCTGTGTGCAAACCAGCCAGCTAAACACGCCTCCACAACACAGGCAAGTAATAAGGCAGCGTCCGGCCCTTCTCTCCATTTCAGCTTTTTAAAGACTTATTTTTAACCCACTTCTCCCGTCTGTTACTATGAATGATGAAGAACACCATTCCAAAAGTGTGATGAAGGCGGTTCCCCCCTTGTGGCATCTGTGTTAAGGCCATCTTATTCTTGGTCTCACACACAAACTTTTTGGGAGACATGGCAGTCTACCAATAGGCAAATAAAATTCTTTTTCCAAGGTTCAAGGGTAAAATATTTTCACATTAAATACGTTACAAAAAAGAACCAGCATATCTTATTCCCATTTTGTCCTCAAGGATGAACAGCTTCTAAAGGGATTTGGCATCACCTATTTTACATGTAGTGGCGCTTCCCCTTTAACCATTTACAGTGTTCAATCAAGGTGAAGAGCCTGATTCACTAAAGCTGAAAAACATGTTATTCCCATTTGCCCCCTTGAAATCAGTAGTTCAGTTTTCCACACAATTTAAATGGAATGAGAAGCATAAAGAAATGCCCAGTCATAGCACTGGGCTAGTTCTCTAGTAGGGCATCTGTGAAACTTCTTTCCTTTTAAAGTGTGATGTTCCCTTTCGCATGGGGCCTCCATGAGGAACCTCAGTAGGAGAGAGGAGTCTTTGGTCTTCAGTAACACACCCAGATGCTGCAATGACCATCTAAGCATGGGAAACACCCATCCCAACTCACCAAAATAGCCCTGGAGCACAAGCTGGCCTCTCTGAGTTCAGTCCCTGCGAGGAAAAGTCTCCCAGGGAACATGTGGTTGAATAACCTGGCACACACTTAAAATCAGATAAAGCACATTTTAAGTGAAAAAGCACAGTTGCTTTTTCTTGTTTTCATTTTATAGGGAAAAATAAAAGCACAGTAACGAAACGTTTTTCATCAGAGAAATTTTGAGGCCAAGAGCCCTTCCCATCTCATTTAGGCACGTCATGGAAATAAATGTGGCACCATCAGAAGGTCAGAGGCCATGACTTGCACACAGCTTGCTCAGAGCAAAGTGCCCCTTCCCTCCTCCACCAGGCTTGGGGGCCACAGGAATTACTTCCTAAGTGGACATCCGCCACCTATAATTCAGTGCAAGGGGTCAAATAGGCCCCTCTGGGAAGTACTACCACACAGGGTCCCAGGGCCTAAGTCAATCGGGAGTCAAAGCCAGGAGCAAACATCAAGGGTGTGCAGGAGAGGATTTCCACGGGGTTGCCCTGGCTGGCACATTCACGCCATGACCAGGACACCAGCCTGTAGTTCACTGAAGTCAACTTTCTCCTCTCCAAACTAACACTCACTTCCGCAGTCTGAGAAGGCACTCAATCCTGAGACTCAAAGTGTGCTAAGAGCCACCTTCCAAAGACATGGAGCCACTGAAGCAATCTCTGCTAGGGAGGCCTACATTCCAGACTCCACAACCTCTGGTCATTCAAGTATGTGCCCCCAACCCTTCCTTAAGTTTCCATCTCTTGGAAGACAGGCATGCGGGAGCGGAGGGGGAGGGGCGGGGGGCGGGGGCGGAGCACACCGGCGCACACACATGCACCCACCTCAACTTGGAGATCCACTCCCAAGGTGGCTCTGACACAGGCCCGCCAAGCCGCGTTTAGCACGCCCCCTGCTGGCCCACAAGAGCTAATTCAACCTTTCTTCCGTGGGCCTAAGGCATGAATAAATGACCTTAATATCCCAAAGGGAACAGAAAGAAAATCAGGGCAATTTTTACTTCTTAGAAACGGAAGATGTGACAGTGATCTCTTTTGGGAAATCACTGACAACTCCCAAATTTAAGCACTCTAAACATACAAGCGGGATGAAGAGGCTTTAAAGCGGTTGTTTTAAAATGTTTTGGGGAAATAAGTGACCCATACCTAAAGATTTAGTGGAAACACTTCCGTTTGAAGTTTTACTAGTACTACAGCGAGTTAAACCATAAACGTGGTGAATATTTTCACGAGTCTACAGGTGAAAACAAAAAGATGGATACGGGGCCAGATTGATTTCACAGACTCCATTTTCAAAGAGTTTGCAATGCAGACCCTGAAAAACCAATCTTCATACTATTGAGGACATGTTGTAAAGAAGAATCTCTGCCACAACTCAAGAGTTAAGTTCTACAGCAACTACACACAGCGGGAGCAGTGTCATCCAAAAGCAGCTCACTTGGAGCCAGTTTCTCATCTCACTTAGGCACACCATTGGGAATAAATGCGGCACCATCAGGAGGTCAGAGGCCAAGAATTACACACACTTGCTCAGAGAAAGGTGTCCCCTCTCCTTCTCCACCAAGCTTGGGGGCCTCAGGAGTTACTTTCTAAGGGAAAACCTGCCATCTATGATCCAGGCCCAAGTGAGACCCGCACGTGGCAATACTTCGTAAAGCGGCGATTTCCACCCATTATCAGCCTGAACACTAAAGGCCTAAGTAACCACTGTTTTCCCATTCTTTTCACACCAATACAGGGTTCAAGAGATTGAAGTTCCTAACCAGGTCCCAACTTTTGAGTGGCATATGGTATTAAATTCCTTACAGATCCAATAAAATCACACTAACAATTTAAGGCATGCTTATTTTAACCAATTAGGAGGTGTCATTAATTATTAAATACAAAAATGTCAATACTTTTGTCCCTTATTGGATATCCTTTCGATATGATAGGCTTGAGTAGATACTCAGATTGCCTTGGGAACTTGCTTAGTTTTGTTCCCATAAGAATTGGTACTAATGGCACACTCACAATAAAATAATGGAGTGTTGATCCCATTTAGTGGGGAATGTTTATCCAGAACTGAGTGTGCCGTGCAGATCTACCTCTGTTCTCGTGAACCCTCTTTGGGTCTTGAAGAGGCCTTTGAAGCTGGTGGGACACACGGCTGCTGGGAGGACCCTAGTGAACCTGCCTCCCCGCCTTCGCCCAGGGCAGGCTTCTCCGGGCACACCCTGGAGGAGGAGGAGGAGGATGGTGAAGGACACCTGCAGATTTTCCTGAAGCAATTAAGACCTGTAAAGATTTAGGCCCCGCTGTCAACCTTTTCCTGGACACATTATCTGCCTCATCATATTTTTAAAAATTGTTCCTCTTACAGCCCACTTCCATTTACAAAGGTATCACCTGGCGGTAACCATGTGCATGTCATACATGACTTTCCCCTGGATCCTTGTGCTGTGGATGAAGCGTTTCCCTGATCGGGGTCTCACAAGTTTCCCTTCAGCTACTCTTAAATCTATACATTCTCAAGCCAATAGACAGAAATAAAAGTCATTTGCACTTGTGTGAGGTAGCTGAGTTTACAGAGCAGAGGCAAATCCATTTTATTACAGAGATTCTCAAAGGGCTGCAATAGCTTCACCGGGAGGGAGGAGGGTACACTTGAGCGGTTGTGTCCAATGAAGGAAAGTTTTAGTTAATGATGACATCACTGACATCTCCCAAATTTAAAGGAGCACTTAAAGCACCGCAGATGCAATTTTTTCCCCTCCAGTGAGGAGATACTAGGGAAGGCCTCTGGGTTCACAGCCAAATTGCCTTAATGGTTTGCCTGCTGTCCAGCGAGACCCAGCAGAGCGAGCGGGACGGCGGTGCGCCGGGCCGCGGGGACCCACGCAGTCACAGCTCCGGTGCCCGGCGAGCGGCCTCGCGCGCGGCTCGGGGCCGGGCCCTGCCCGGCCGTCTGCAAGAGCCGCGGGACCCCCGACGCGCGCGCACGGACCGAGGGGTCGGTCGCCCCACGCCTGGCATCACGTTCCAGTGCGGACAGCCAAAGGGCTGAGCGGAGGCAGCAGCCCCGACCCAGCGGTAGCGCCGCGCCCTGCCCGAGAGAGGCGCGCCACGCCGGGCCGGAGCCGGTGGCCCGGGAGCCCGCGGGGTCCGGAGCGGAGCCCGCAATGCAGACGCGCCGGCGAGCCCAGCCGGGGCCCGCGCCCCCCGCGTCCCCGCGCCCCGGCCCCGCGGTCGCCCGGCCTCAACGCCCACCTGCCTCGCCACGGAGCTCGGGAAGGAGACGGCGCCGGCCCCGCGCCCGGAGAGCGCACCTGCCTGGTCCGCGGGCCCGGCCCCGCCGCCCGCCGGCAGCACCGCGGCCAGCGCCGTCTTACCTGCCGCGCCGCGCCGCTCCGCTCCGCCAGCCCGCAGCGCCGCAGTCGCCGCTACCCGACTTCCATTTTCTCTCGCTTTAAAGGAAAACCAGATCAGCTGTTTTGCTCCCGCTCGGGCTCCGCGGCCCCCTCCCCAGCTGCCGCTCGCGGTCCCGGTGGCCTCTCCTCCCCCGCCTCCTCCCGCGCTCCGCTCCGCCCCTCGCGCCCCTCCGCTCCGCCCGCGGCCGCGCACAACGCCCGCCTCCCGGCTCCGCCTGCTGCCTCCGGGCGCGCGCCCTCCTCTGACGTCACCGGTCGCGTTCGCGCCCCGCCCCCGCCCCGCGCGGACGTGCGCGCGCCGCGCCTGTGCCCCGCCCCCGCCCCTCCGGGGCCGGGCACGGAGAGCGCGTGCTCGCGGCCGCGAGCCGAGGAGGGGACGTACAGCGCCCGCGCGCCCGCGAGCCCGCTCCGGCTCTCCCATGCTTGCCCCTCGGGGTGCTCCTTCTGCGCTCTCCGCCTGGACTGCAGGAAAAGGCTGCTTAAACAGCCTGCCTTTTCCTGCTGCCTGACTCGCGCCATCTGCGGCCACCTGTCTCGTTTCTTCCCCCTGGCTGGCGCACCCTTCCTTCCTAAACATCCCAAACTTTCTCCCACCCAGGCTGTCCAGGCTGCAGTTTCTACGCCCTGCGCTGGGGCCTGTGCATCACGCCTAATCCAAAGCTGGTCCTTTTACCTCCCAAAAAGGTTCTCTGACCTTTTCCCATTTTTTGCCTTCCTCTAAAGACTTTTTCACGCCACCCCTTCAGATGGTTCCCCTCCCTGATGGCAAGACCTGCTCGCTGCTCTGGGCCCTTCTCACGTCACCCTGTAGATGTAGTCACGCTTCCTTATCCCAAACAGGACGTTATATTGCAGATGACCCATACCATCCTGGTGTACTTCTAAACAATCATTATTTTACTTTTAGTTTAGGACTTTTTGCTTGACTTTAAACATTGTATATGTTTAATAGTGTTTAATAATTTATTTGACTTTTAAAATTGATATTCAGTAAAATTGGTTATTTGATATATAATCCTGTGATCTTGAACCCTTGTTTGGATTCATGTAACCACTAGCGCAATAAAGAGCTCCCTAGTTCTGCCCTTTTATAACAGCGCCCCCGCCAACCCTAACTTTTGGTAACCACTGATAGGTTCTCCATTGCTACGGTTTTGTCTTTGTGAGTGTGTCGTATACATGGAATTACGCAATATGTAACATTTTGAAACTGACTTTATTCCCTCATCATTATACCTTGGAGATTCATCCATGTTATTGTGTATAGTAATAGTCCTTTTTATTGTTGAGGGGAGTCTCATTATTTGTACCACATTTTGTTTAGTCACCCACTGGAGAATATTTGCGTGGTTTCCAGTTTTTGGCGACTGTGAATAAACATTCTATAAACATTTGCATGCAGCGTTTTGTACGGACAAATTTTTTAAATTAGTTGACTAAATATCTAGGAGTGCAATTGCTAGATCTTATGGTAAATTTGTTTAACTTTATAAGAACCAAACAGTTTTCTAGAGTGGCTATAGCATTTTTATAACTGTCAGCAAATATGAATCCCTTTCCTTCATCCTCACCAGCACTTGATATTGGCTATCTTTATCTATCTATCTGTCCATCCATCCATCCATCCGTCTATCATCTATAATTTTAGACATTCTAGTAGGCATATAGTGCTATATCGTTGTTAATTTTCAATTTTCTACTGAAAAATTATGTGGAGCAACTTTTCATATGCACCTGTATATCTTCTTTGGTGAGATGTTTGTTCACATCTTTTGCCCATTAAAAAAAAAAGGTTGTTTTCTTATGGTTGAGTTTTAAGAGTTCTTTGTGTATTTTGGATAGAAGTACTTTATCTGATACGTGTTTTGCAGGTATTTTCTTCCAGTGGAAGCTTGTCTTTTCATTCTCTTAACAGTCCTGTCCTGAATTTAGGGGAAGTATCCAGTTTCTTACCACTAAATATGATGTTAGCAGTAGGATTTTTTTAGTTCTTCTTTATCAAGATTAGGAAGTTCTCTCTATTCCTAGTTTGCAGAGTTTTTATCATGAATGAATGTTGGATTTTGCCAAATTCGTTTTCTGCATCTATTGATACGGTCATGTGATTTTATTTTCTTTAGCTTGTTGATATGATGGGTTACATTGATTTTCAATTGATTTTCAAGGAACCGGTCTTGCATACTTGGGTCAAATTCTACTTGGGCATGGTATATAATTGTTTTTATACACCATTGTATTCAATATGCTAATATTTTGTTGAAGACTTTTGCATCTATGTTCATGAGAAATATTTGGCTATAGTTTTCTTTTTTGTAATGTCTTTAATTTATTTTGGTATGCCGGTAATGCTGGCCTCATAAAATGAGTTAAGAAGTAATATTTACTTGTATTTTCTGTAAGAAATTGTAAAGAACCTATATCAATTCTTCCATAAATGTTTGGTAAAATTCCCTGGTGAAACCATCTGAATCTGGTGATTTTTTTGAGACTTCATTAATTATTGATTCTTTGTGGATACAGAGCTATTAGGTGATCTGTTTGCTTTTCTGTAAAATGTAGTTGTATCATTCAAGGAATCGGTCCTTTTTATCTAATATTCAAACTTGTGGGTGTAAAGTTGTTCATCATAAACCTTTATTATTCTTTTAACATCTATGAAATTAGTAGAGATGACGCCTCTTTCATTTTTTGATATTGGCAAACTATGCCCAATGTCTTTTTTTCTTGGTTAACCTGGACAGGTTTATTAATTTTAATCATCTTTTCAGCTTTTTCTTTGTTTTGTTGATTTTTTTCTATTGTTTTCTATTTTCAATTTCATTCTCTAATTTTTATTATTCCTCTTTGTTCTGCTTGTTTTAGGCTTAAATTGCTCTTCTTTCTCTATTATCCAAGGTGACAATTTAGGTTGTTGATTTTAGATTTTTCTTCTTTTCAAATGTATACATTTACTGCTATAAATATCCCCGCTTTTACTGCATCCCACAAATTTAGAAAAGTTGTACTTTAATTTTTATTTAGATCAATGTTTTTAGTTATTCTTGAGATTCCTCTTTGACCCAAATGTTTTTTAAAAATGTGTTGTTTAGTTTCCAATAATTTGGGACTTTCCAGCTATCATTCTGTTCTTGATTTCTAGGTTACTTCCATTGTGGTATGAAGACATACTTTGTTTAATTTCTATTTTTCTTTAATTTGATAAGGTGTGTTTTATAGATCAGAATGTGGCCAATGTTGGTGATTATTCCATGCCAGCTTGAGAAGAATGTGTATTGTGCTATTGCTAGATCTACAAATATCAATTAAATAAAGTTGATAATGCTGTTTAGGTCAATTATATCCTCACCGATTTTTTGCCTATCTGATCTTATCAATCATGGATAGAGAAATGTTGAAGTATCCTATGATAGTGGATTGGACCATTTTTTCTTTCAGGTTTATCATTTTTTCCTCACTTATTTTGACATTTTATTCTTAGGCACATGCATATTTAGGGTTATTATGTATTCTTGGAGAATTAGCCCCTTTATGATTATGAGTTTCTTACCTATCCCTCCCCTCACATCCCTGATAATTTTCCTTTTTCTCAAGTCCCTTTTATCTGAAATTAATGCAGCTACTCCAGTTTTCTTTTGATCAGGGTTAACATGGTATATCTTTCTTCATCCCTTTACTTTTAACCAAACAGATACTTTATATTTAATGTCAACAAGATATAGTGGGGTCTTGTTTTGTTATCTACTCTAGCAATCTGTGTCTTTTAATTGGTGTATTTAGACCATTCACATTTAACACAATTGTTGATCTATTTGGATGAATATCAATCATATTTGTAACTGTTTCCTACTGGTTGCCAGTGGCGGCTTTTTCTGCCTTCTCCGATTTTAATTGAGCATTTTGTGTGGTTCTATTTTATCTTCTCTTAAAGAGTATCAATTATACTTTTTAAAGAATTTTTTAGTGGCCATTCTAGAGTTTCTTTTTTCTTTGCTTTGCTTTTTTTTTAAGACAAAGTCTGGCTCTATTGCCTAGGCTGGAGTGCGGTGGTGCCATCTCGGCTCACTGCATCCTCTGCCTCCTGGGTTCAAGCCATCCTCCCAGCTTAGCCCCCTGAGTAGCTTACCATGCCCAGCTAATCTTTGCAATTTTTGTAGAGACAGGATTTCACCATGTTGTCCAGGCTGGTCTCAAGCTCGTTAGCTCAAGCAATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTCTGAGCCATCATGTCCAGCCTAGAGTTTCTAATATAGATTTTCTTCTTTTACTAATGTGTGTTCACCTTCAAATCATGGTATTGTTTCACATGTAACGTAGATATCTTATAAGAGTGTGTTCCCAATCCTCCCTCCCATTCCTCGTAGCATTGCTGTTAGTCTTTTCTCTTATCCATATGCTACAATGACCTGTTACTATTTTTGCTTTAAATAAGAAGTTATCCTTTAAATTATTAATGAAAATAAAAATAAAAGATTTCATTTTACCTCCATTTATTGCTTCTCCAACACTTCCTTTCTTAATATAGATCCAAGTTTCTGACCTACATCATCTTCCTTCTGTCTGGAGAAAATCTTTTAACATTTCTTGAAGGACAGGTCTGATGGTGAATTACCTCAGCAAGTAAGTCCCTATTTTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGTCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCAATCTCCTGACCTCAAAATGCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCCCCGTGCCCGGCCTCTCCTTCATTTTTTAAGAATAATTTTTCTAGATATAGATTCTTAGTTGGTTATTTTTTGTCTTTCAAACCTTTAAATATCTCACTCCACTCTTTACTTGCTTGGATGGTTTCTGATGAGAAATTCCCTGTGTTTCTTGTCCTATTTTTCTATAGGCAAGCCACTGCACTCATACCCCCAATTCAGCTTTTTTCAAGATTTTCACTTTTTCTGTCCTTTTTTTTGTTGGTTTTTGCTTCGGTATTCTGCAGTTTGAAAATTATATGCCTAGTTTCATTTTTTGTTTCTTTAATCCTGTTTGTTTTTGTCTGACCTACACAGCTTTACAGCTTGGTGTCTGTCATTCATGTTGGAACGTTCTCAGCTATTATTACTTCAAACATTTATTCTACTATGTTCTCTCTTCTATTTTGGTCAAATAATTACACATATGTTAAAACTGTTGAAGTTATCCACAGATCTTGGATGTCTGTACTTCTTTTTCCATTTATTATTATTTTCCCATTTCAGTTTGGGAAGTTTCTGTGGACCTATATTCAAGCTCACTGATTCTTTTCCTCAGCCATGTCAAGTTGTGTGACAAGCCCATCAAAGGCATCCTTCATTGTCTGTCACAGTGCTTTTGATTTTTAGCATTTTTTTTCTTAGAATTTACATCTTTCTGCTTACATTACCCATGTATTCTTGCAGGTTGTCTACTTTTTAAAAAAATTTATTTATTTTTATTTATTCATTTATTTTTTATTTTTTATTTTTTTGAGATGGAGTCTTGCTCTGTCATGCAGGCAGGAGTGCGATGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCCATTCTCCTGTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCACACCACTAAGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTTTCAAACTCCTGACCTCAGGTGATCTACCCACCTCAGCCTCCTAAAGTGCTGAGATTATAAGCATGAGCCATCGTGCTCAGCTGCAGGTTGTCTACTTTTTTCCATTACAGCCTGTATCAGCCAGTGTTCACCAAAGAGGTATATATAATACACACATACATAAATACACATACACACACACATATATATATAATACACACATATATTAATATTTAAACATAGGTATGTATGTTTAAGGTCTGGTGTGGCTGTAAGGATCAGAGGCTTCACATTGCTCTAGTGTCCTTGTTTCTGTCTCCTCTCTTGAATTTGGGCCTCCCTGTGTACTCCTCCTTAGAGACAGTCTGTGTTGTATAGTTCTTTATTTGTAAGCCATTGTGATTACAGTGGGGCCCTGTTGGTGTGGTGGTAAGGTATGGGTAAGGGGAAGTGTTGTATAATCTTCCAGTGAAATCTCAATCTGTTAGTGAGCCTGTGTCCCTGTCTCAGCCTGTTAGTGGGCCTGTGACTCTCATAAGTGTTTCTTCTGGCCCAGCATTCCTCCTTCCCGCTGCCCCCTTAGGTGAGACAGAGACATCCAGGCTGTGGGGCTGGGTTGAGAGGAATTTCCTTTTCCACAGCTCTGGGAAAAGATGCTGATAAAGGTTTTTTCCCATTAAGAGTAACCCTGTCACATGGAGAATGCTCTGGATACACTTCACAAGGATTGCTTTTTTCCTCTTTCTTCCAGAGCCAGGAGGGACTCTTCTTTGGCTTGCCACTGTGAAACCTGGTGATGTTGATGGAGGTCATGTTCCTGAAGGTATGAGGGCCCTCCCGAGACTGAGCCACCAGGCGTTTCTCACTCTCAAGCTAGTCCATGCCCAGACTCCAGTAATTTGTCAAAATTACCATTTAAGTGTTCCTATCAGTTTATAGCCCTAGCAGCTTCTTCAGGTAAGCAGATTTCAGCTGTGACTGTCTGGTTTCACCTGTCTCTTCAGATTTCTGGATGACAATTTGTCCTACAACTCAATTCTCTGATGGGTCCAAAAAAAGTCATTGTTTTCCCATTTTTCCAGTTTCTCTGATTGTAAAGACAGCTGCAACAACATCCAAGCTCTTTACAGTCAGAGCCCAAACCATAATTCTCACTTTTCTTGTGGTTTTAATACGCAATTTCCTAATAGCTTATGATATGGAGCCTCTTTTTATGGATGGATTCACCATTCTTGTATTCTTTTTCATTAACTTTCTGTTCAAGTAATTTTTTTTCCATTTTGATGGGATTTTAAAATATTCTTACTGTTGAGTTTTGGGGTTCTTTACACATATTCTTTATATAAGTCAGTTATCAGATATGTGATTTACAAACATTTTCTTCAGCTCTTTAGCTTGACTTTTCATCATATTAAGAGAAGTTTTCTTTCACAGCAAACATTTTGCATTTTTATGAAGTCCAATTTAGAATTTAAAAAAATTATGTGGCTTGTGCTTTCGGTGACACATCTAAGTACTCTTTGCTTAATTCCAGGCAACAAACATCTTCTGTGTTTTCTTTGAAAAACTGTATAGTTTTGCAATTTACATGTATATCTCTAACCCATTTTGAGTTAATTTTTATATTAGGTGTGAGGATTGGGTCCAGGAACATTTTTGGGGTCATGCAGATATCTAGATTTCTAGCACCATTTGTTGAAAAAGCTATCCTTTGTGCATTTAGTAATATTTGCACTTTGTTCAGTTGTCAAAAATCAATCATGTGGGTCTGTTGGGTTTGTTGCTGGATTTTGTTTTGTGTTGTATTGATGTATTTGTCTATCCCTTCAGCAACTGCATGCTGTCTTGACTACTGTGGTTTTTATTGATTTTTTAAATCAGATATTGTGAGTACTCCAGTTTGTTCCTTTTCAAAAAAATGTGGCTGGGCTAGTTCCTTTGCCTTTCTGAATAACTTAGAATCAAGCCTATGTGTACCTATAAAAACTCTTTCCAGGGTTTTGATGAAAATAGATTTAGATCTGTGGCTCACTTTGGGGAAAATGAAGACTTTTTTTTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTGAGAGGGAGGCTCACTCTGTCTTCCAGGCTGGAGTGTAGTGGTGGGATCTTGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGTGTGCACCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGGCTGGTCTTGAATTCCTGACCTCAGGTGATCTGCCCGCCTCTGCCTCCCAAAATAGTGGGATTACAGGTGTGATCCACCATGCCCAGCCATTAATATCTTAATTATATAGGGTCTCCCAACAAGTATACATGGTATAGGTCTCTCCATTTATTTAGGTTTTCTTTGATTTTTCTCGTTAATGTTTTATAATTAAACATTCAGATTCTGTACATGGTTAGGTAGATTTATTTCTATTTCCTTTGTAGATGTAGTCAATTAAAAATTTTTTTCCATTTCTACCATTCATTACTAGTATATATAAATATGATTGATTATTGTCTGCTGACCTTATATTCTGCAACCTTATTAGTTCTAGGAGCTTTTTCATACACTCCATTGGATTTTTCTGTGTAGATAACCTTGTGTTCAGTGAATGAAAGCTGTTTTCTTCTTTTTACCCATCCATATGCCATTTATTTATTTTTCTTGCTTAATTACACTGGCTAAAACTTCTAATGAAAGAATGAAGAGAAGAGATGGGCGTAGACATTCTTGCCTTGTTTCTGGCCTTAGGGGCACAAATTCAACCTTTCATCATTAAGTATGTGGTTAGCTGAAGGCTTCTGTAGATACCATTTGAGGTTGGAGATCCCTATTAGTTCTGGGAGGCTGAAGCAGTTGGATCGCTTAACCCAGGTGTTCAAGGCTATGGTGAGCTGTGATTGCACCATTGCATTCCAGCTTGGGTGACAGAGTGAGACTCTGACTCTAAAAAATAAAAAAAAAATAACAAAATGAAAAACCACAAAACATTTGTTGAAGGCTGAATGTACTTATTTGCGAAAATATTTTTACATGTCCCTTCCCCTTTTGAAATACAATTTTCTATCTACTAGCAAGCCTTGGGATATAATGATGATGAAATCTGTGCAGTGGTAGGAAGTATAGTCAAGGAATATTATTTTGTGTACTACATAAAATGTATTTATGTATCACGTGTACTACATCATGAAATGAATAAGTGAAATGGGGACTGTGACTTTAAAAAATTATAACTTTTCCAAGTATATGCAAAATTATGATCATTTTCAATGAAATTCATTAATTATGGCGAGCATATTGCAATAGACTGTGAAAAATGTATTAGCTTTCTAAGACTGCCATAATAAAGTACCAAATATTAGGTGGCTTAAAACAACAGATATTTATTTTTTCAGTTCTGGAGGCCAGAAGTCCAGAATCAAGAAGGTTGACCTTTTCTGGAGATTCTAAGAGAGCATCCATTCCATGCCTCTCTCCTAGGTTTTTGTGGCTGCTGGCAGACTTGGGCATTCTTTGGTGTTATGGATGGAATGTTTGTTTTCCCAAAAAATTCATATGTTGAACCCTAGCCCCAAATGTGATGGTATTTGAAGATGAGACCTTTGGAATCGATTAGGTCATGAGAGTGAGGCCTTGGTCTGGTGGGATTAACGCTGCTGAAACAAGAGCCTCCAGAACACTTGATATCTTTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTGCACACACCAAGGAAAGGCCATGTGAGCACACAGTGAGAAGGCAGCTGTGTAGAAGCCAGAAAGAGCCCTCGGCAGAACCTATGTTGGCACCGTGATCTAGGACTTCCAGCCTCCAGAACTCTGAGAAAATAAACTTCAGTTGTTTAAGCTACCCATTCTGTGATATTTTGTTATGGCAGCCAGAGAGGACTAAATATGCTTAGCATCTAGATGCATCATTCTAATCTCTGTGCCCACCCTTTCATCCTTTCTCTCTGTGTTCTTTCCTTTTCTTTCTCTTACAAGAACACTGGCCATCAGATTAGGGACCTATCCCAGGTCATCCAGATGATTTTAATCTCAAAAACTATAACATAATTTTATGGGCAAAGACCCTACTCCCAAAAAGGTGATATTCACAGGTACTGAAGGGTAGGACTTGGACATATCTCTTAGCAGGAGAGGAGGGACAGTTTAACCTGCTACACATGGAATGGAAATAAATAGTTTCATGGGGGTGAAATCTAGGGGTGAGAGGACAAGACATTTTCTCATCATCTTCAATGTGTTGGGAGGGCTGGAGACATGACTGCATTTCAGTTGTCTTCATAGCAAAAGAGGTCATGCATAGATGACACTGACAGGTTTGTCTTTGACTCCTTGATAAAAAGAAAGTATGGTTAAGGAGCAGTATTTTAAGGAAGTCATCAGTGATGAACTACATTAAATAATACTGATACTGTGTCCCCGATGAAAATCACCAGCTGAATAGAAGAGTCTGAGAAGAAGCCAGCAGTATCGATTTGGAACCTCCCTAAATCCCCAGGTAAAGAGAGAGCAACTAATAAAATAAACCAAATATACTTATCGTATCCCAAATACCAATGTCAGAAAGAATGGAGACAAGCCATCAAGAAAGAATAGCCCAGTGCGGTTTCAGAAACTATGTGAAGAAGTGAAAGGAAGAAAAGGAAAAATAAAGATGGTTGCAGCTTGATGTAAATCCCTTCCATTTCTTTCTTACTAAGAGTATCATGCATGCACATTGACCTTTAAAAACAGTTTTACTGGCTGGGCCAGTGGCTCACACCTGTAATCCCGACACTTTGGGAGGCCGGGGTGGGTGGATCACTTGAAGTCAGGAGTTTGAGACCAGCCTGGCTAACATGGTGAATCCCTGCCTCCACTAAAAATGCAAAAATTAACCAGAGATGGTGGCAGGCACCTGTAGTCCCAGCTATTCAGGAGGCTTAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAACAAAACAAAACAAACAAACAAAAAAAACAAGTTTTACTGTATAATTGACATGCGATAAACCAAACATACTTAAAATGTACAGATTGATGGATTTTGACATACATGTACACTCAAGAAACCATCACCACAATCCAGGCAATGAACATTTCCATCGCCCCCTAAGTTTCCCTGTACCCCTAAGTCATTCCTTCCTCCAGCTTCTCCCTACTCTTCCCCCATCCTGTCCCCAGAACACTACTGATATGTTTTCTGGTGTTGACAATTTTAAAAATACTTTCTCTGCATTCACTGAAATAGTTTTTCTCCTTTAATATTTAATAATTTTTATAATGTTATTGCATACTATTTTCTAATGCTAATGCATACTATTTTATACCTTCTTTACTAATGTTCTCCTTAGGATAATAGCATTTATATTTGTAAATAAGATTGGCCTATGGTTCTTTCTCATGATCTTCTTCTCTGCTTTTGGTATCAAAGTCATACTAGATGCATAAAATGAGTTAGGGAAGATATCGGTCAGGATAGGTTAGGTTATAAGGCACAACAAAAGAGACTGAAAACCTCAGATAGTTAAAAACAAAACAAAACAAACGTATATTTCTGGCTCTTGTTACATATCCATCACTGATCACTAGGAGCATCTATGCTCCTCATAGGCACTCAGGGCCCACATGAGTTCCTTTCTACACATCTCCACCACTGCTGCAGAAGGCAGAAGAGAGCATCATGAACCTCGCAATGGCTCAAGGCCATTTCCACTCACATTCTATTGGCCAAACCAAGTCAGACAGCTGTGACTTCTTACCAGGCGAACTTCCCTGATGACTATCACCATCTGCCCTTCTGTCACCAAATACTCAGTTCTGTCTTCTTTCTATGCACAGAAGAGTACACCTTTTCATCAAGTCCAGATGTGGCTCTCCTTTGACTAGAGACCTGTGGCCTGAAGTGACAAATTGCCTTTTTGCACTTCACTCCTCTGTCTCTCTACCTTTCTCCACCCTGCTCTGGGCCGTGGGAGGACAATCTGCATCAAAAGCCTCCCTTCTTCTCTGGCTTCCAGTTGGGTTTGACAAGAGATGAGAAAGAGGAAACTGAGTGAGGTTGGGTTGCATATTGCTTTTGCTCCCCATCTGTGAGATGGCCACTGGCTGGCGAGCTAGCTGAATTTGGCCTAATTTCCAAGGGAATCGAACCTGCAGTCCACCTGTGCCTGAAAGGAGATATTAGCATTGCATCCATGTCTACTCCAGGAAGAATGGCCTCTGTTTCTCTGGTATTTGGAGATGAGGCCTTGCTCATATTACCTTGGGAGGTAATGTGAACAAGATGGAAATTAATACTTATTGAACATTTTATGTAATGTGCTTATTAAACTATCTGAGGACTTATTTTTTGTTATTTCTTTTTGTGATGCCATTTGTTTACAGTACAAATACAGATCATAAATTTATGATTCAATGAGTTTTGTCAAATGCACACATGCATATAACCCGTACCCCTATCAAGATGTAAAACATTTTCAACACTATGGAACATTCTTTTTTCTTATTCAAGATATATTTTTACTCATCCTTAATCTTTGTATTTCTGTACATTTTAGAATCAGCTTGTTCATTTCTACTAAAATATCTGCTGGGATTTTTATTGGCACCATCTTTGATTCTATAGATCACTTTGAACATACTAAATATATTGTAATCCTAAACATATTGAATCCTCCAACCCATTAACATGATATATACATAATACATGTATTGACGTCTTCTTTAATTTCCCTAAAAGTGTTATATAGTTTTCAGTTTACAGGTCTTACACATATTTTATTAAATTTATCCCTAAGTATTTAACTATCCTTAACTATTGTAAGTGGTATATAAATGCTAATTTTTCAAATTATTTTTGGTAGGATGAAAAAATACACTCAATTTCATATATTGACTTTGTGTATTGCCACCTTGCTAAATTTACTCATTAATTGATTTTTTTTTCTTGTTGTGGATCTCTTAGGATTTTCTATTAATACATAAGTAATCATGTCATCTGTGAGTCAAGGCATGTTTACTTTTCTTATTTCCAGTATTTATGCTGTTATTTCTTTTTCATGTCTTAATGTACTGGCTAGGACATCTAGTACAATATGAAGATGAAGTGGTAAGCATATATTTTGCCTGGTTTCAGCTTTTATGAAGGCACCATTTGTTTTCTCACCATTGCATATGTTAGCTGTAGGTTTTTTCTAGAGATCCTTTATTAAATTGGGGAATTTTTCTTCTGTTTTTACTTTGCTGATAATATTATACTATGAATAGGTGCAAATTACTGTCAAATGCTTTCTCTGTATCTATTATGATGATTTATGATGTTTTCTTCCTTTAATCTGTTAATGTAGTGAAATACATTGATTTTTTAATAGATAAACCAATAATGCATTCCTGGGTACACCTCACATGTTCATGATGTATTTTTATATTTGATAGGGTTGATTTCTTAAGGTTTTATTAAGGATTTTTTGTCATTCTTCATTGTATTTTGTATCTAATTTTCATTTCTTGCAATGTCCCTGCTTGGTTTTATGTCAGGGTTATACTAGCCTCATCTATTCTCTCAATGACTTTGTGAATACTTCATCGTCTTTATTTAAGTATCCCATTTCTTTAACAGATACATGCAGACTTTTTATATTAATATATTGCTGTGTCCATTTTGTTCAGCTGTACTTTACAAAGAATTTCATCTTTGTTTTTTAATTTATTTGCAAAAAAAAGTTTATTATGTTTTCTTATTATCTTATGTCCATAGGACCTGTAGTGATGTTGCATTTTTTCTGTTAGTGATATTAGCATTAGTAATTTTTATTTTTTTTTTTTTAGGCAAAATCTCATTCTGTCACCCAGGCTGGAGTGTGGTGGTATGATCTTGGCTCACTGCAACCTCGACCACCTGTTCTCAAGCAATTCTCCCATGTCAGCCTCCCAAGTAGCTGGGACTGCAGGGACATACCAGCATGTCTGGCTAATATTTTTAATCTTTTGTAGAGACAGGGCTTCACCATGTTGCCCAGGCTGTAAATTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTCTTGATCTATCTTGCTAGATAGATCAAGGGTACATTCAACACAATTTATCACTGTTGATGTTGACCTTAATCACTTGGAGATAATGTTTGATAGGTTTCTCCATTGTTAATTTACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTATCACCCAGGCTGGAGGGCAGTGGCGCCATCTCAGCTCACTGCAAGCTCTGCCTCCAGGTTCACACCATTCTCCTTGCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTTGTGTGTTTTTAGTAGAGACGGGGTGTCACCGTGTTAGCCAGGTTGGTCTCAATCTCCTGACCTCGTGATCCGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGGCTGTCCATTGTAAATTTACTTTTTTTTTTTTAACTTCTCCATACTTTATTCTTTGGAAGAAATTTACTATGCACAGCCCACACTTAGGGAGTAAGGCGTTATACTCTACCTCCTAATGGGTAAAGTATCTACCTAAGCTGTTTGAAATTCTTCTGCACATAATATATTTCTCTTCTTTCCCATTAACTTATTTAATCATTTATCTATGTCTGTATGGATATATGGATATTTATTTTAAACTTAGGGTTATAATCTAAAACTACTTTGTTTATTTTGTTTCTCAAGTTGTTCTAGGCTTGACCATTGGGGGCTTTCTGTGTTATTTTTATTAGTAGAATTTTTTATTGAAGAATAATTGAAGTACACTAAAGTGAACATACCTGAAGGGATCTGTTTGATCAGTTTTGACTTGCATATATGCCTATAAAGCCATTACCACAAACAGGATAACAAACATTTCCATTTTACCCAAAATTCTCTCTCCACCGCTATCCCAAAGCAACCATGATCTCATTCAGTCACTACATGTTAGTTTGCATTTTCCAGAAGTTATATAAATGTAATCACACAATATGCACTTTTACCTTGCTTTTCCACTCAGCATAATTGTTCTGAGATTCATTCAGTTGTTGTGTGAGTTGCTGAGTAGTATTCCATTGTATAGATATACCACAATTTATAAATCCATTCACTTGTTGATAGTCATTTGACTTGATTCCAGCGGTTGGCCGTTATAAATAAAGCTGCTATGTACATGTCTACAAGTCTTCGTGTGGCCATATGTTTTCGTTTCTTTTGGATAAATAACCGGAACATTGACTTATATGGTAAGTGTATGTTTAATTTTTAGGAAACTATCAGATTGTTTTCCAAAGAGCATGCCAATTTGTTTATATTCTTGCTAACTCTTGGTACTGTCAAAGATTTTTTAATACTTTGGTGATTACAATGGGCATGGATGGTATCTTATTGTGATTTTAATTTGATTTCCCTGAAGACTAATACCGTTGAGCATATTTTCATGTACTTGTTGGCTATTTATATTTCTTTTGTGTGAATGCTTATTCAGATATTTTCCTCACTTAATATTAGCTTGTCTTTAGTTTTTGTTTTGTAAGAACTCTTTCTTCTGAATACAAATCATTTGTCTGATATGTTTGTTGTAAATATTTTCTTTCAGGTTATAGCTTGCTTTTTTTCTGTTGTTAAAGTTTCTTAATGGTTACCTTTGTATGGCAATTTTTTATTTTGATAAAATTCAATTTTTAAAAATAATTTACCATTGTTGTGTTCTATCTAAGAAATCATTTCGTACCCTGAAGGTCACATAGCTTTTCTACTGTTGTTTTTTTTTTTAACAAATTTTATAGTTTTAGGTTTCAGCTTAGGTTTTTTATTCATTTGGAATTGTGTTTATGTTTTGAAGTAATGGTTGATGTTTGTTTTATTGCAAATGGCTCTCCTATTGTTTCAACACTCTTTAATGAAACTGACTTGAAACTGTTGTCAAAATGAAATCTAGCCTCTCTGTTCTGTACATTTATCTATTAGTCTGTCTCCATGCCAATACTGCACTGTCTTGATTACTGTTGCATTATATGATGTCTTGACATCAGGTGGAGTAAGGCCTCCAATTTTTTTTCATTTTGGTTATTTTTCTTGTTTATTTTTATAAAAGGCCATTGCATTTTTATATAAATTTGAATATTATCTAGTCAATTTCTTTTTAAAAGATTTCTGGAATCATTAATCTATATATCAATTTAGGGATATTTGACACATTAACAATATTAAACCTTAACAATATTGTGTCTCCTGTTTCTTAAGAGGGGCTTGCCAATATCTGGATTTTCATTTATTTAAGTTTCTTCGCATTCTTAGCGCTCTATGGTTTTGTAGGTTGTTTGGTTTCTCGCCTTGTACTTTTTATATCTGTGCTGACTTTCTATATCCTAAGTAGAAGCAGAAGCCATTTTTCTATAGTTTATTTTTAGCTTCTGATTCAAATGGTTTATAGCTTCTTTTTAAAATTTGTTTTTATTATTTTCTTTATAAAATAGCTTTATCGCAATATAGTTGAAGTGCAATAGTGTACACAACATTTAATATGTACAGTTTGGTAAGTTTTAATATAGTGAAACGGTAGGAGTTTTCCCTTATCCCCCCTCGCAGGGCAGCTCAAACCCCTAGGGGGAGCATGCAGACAGGCAGGTCGCGGGGAGCTGGGGCTCTGATCCCACAGCAGCCTCTGGGGTTGAGTGTTCACAGCTCCCGAAGCCCCAGTTGATGTGTGTTACAATGTGCTCTTTCAGCTTAGTCGTCCGCAGGCAGCTTGTGTTAATCAGATCAATTAGACCCTCTGCCTTATCGCAAGATAGAGAGCTTTCTGTATCCCAGGTTCTTGCCCTAGTGTATCAGAAAAATCAGATCACATGTGGGCTTGAAGAACGAGTGCAAGGTTTTATTGAGTGGTTAAGGTAGCTCTCAGCAGACGGATGAGTAGACAGAAGGGGGATGGAGTGGGAAGGTGGTCTTTCCCTGGAGTCCAGCCGCTCCATGGCCGGGCTTTCCTCTGACCTCCCTGGGCTGAATTTCCCTCCGTGACCGTGTCGCTGTGCTGTTAATGGCCTGCCGGCATCTGTCGGTGTGTTCTTCTGCCAGTGTGTTCCTCTCAACGCCCAGCTGCTTGTGTCTGTGCCCGCTAGGGTCTCGGAGTTTTTATAGACACAGGATGGGGTGTGTGGCGGCCACAGTGGTCTTGGAAAATGCAACATTTGGGCGCAAAAACAGGAGTGCCTGTCCTCACTTAGGTCCGTGGGGACAGGCCTGAGGGTGGTGGCCTCCCCAGGGACTGTCCCCCCTTCTCTACCCAGAACTTCCCTGCCCTGCTCCTGTATCAATAGTATACACCTATTAAGCTATCATCACAATCAAGATAATGAATATATGACATTCTCCAATATTTCTTTATGTCCTCTTTGAATCACTCCAATACCACTGCCCCTATACCTAGGTAGCCACTGATCTGCTATAACTATGTATTGGTTGCATTTTGTAGAACTTAAATAAAATTCTGCTTCCTTCACCTGTCGTAATTATTTGAGATTCATCTGTGCTGCTGCATGGATCGTCTGTTCATTGCTTTTGTGGCTGAGTAGTATTGCATTGTATGAATACAGCACAGACTGTTTATCTATTCATCTGTTGAGGGGAATCTGGGATGTTTCTGAGTTTGAGGTATTAAAAATATGGCTTCTATAAACATATCTGCTCATTTCTTTATGTGGATGTATGCTTTTATTTAACTTGGGGAATAAATTCATAGGAATGAAAAGACTGAAATACATGGTATATTAATTAAGTGATTTTCAGATGTTAAATCAACCTCGCATTGCTAGGATATATCCAAATTGGCCAGGGATATAATCTCTATTATATAGTGCTAAGTTTGGCTCGCTCACATTTTCTCAAAGATTTTTCTGTGTTTATGAAATAACTTGATCTGTAGTTTTCTTGTAATGTCTTCACCCGGTTTTGGCATCAGAGTACTTCTAGTCTCATAGAATCAATTGGGAAATATTCCCTCTTCTTCAATTTTCTGTAAGAGTTTGTGTAGAATTGTTTACCATCCTCTGTGAAGGCATTTAACCTTGGAAGATGTTTTCTGTTTATTTTGTTTGTTTTAAGGACGTCAAGTACAATATTAGTTTCTTTAGTAGATAGATAATTCATATTATCAATTTCCTCTTAACACTCTAGTTTGTATATTTTAAAAATATTATCCATTTCATCTAACTTGTCAAATTTATTAATATAAAATTATTCTAATAATTCATAATTATTTTGCATATCTATAGATCTGTAGTGACATTCTATCTCTCATTCCTGACACTGTAATTTATGTCTTCTCCCTGTTTTCCTGATTTGTCTGGCTAGTGGTTTACAGCTTTATTAAGCTTCTCAAAGAACAAACTTTTTATTTATTTATTTTTATTATTTTTATTTTATTTTATTTTATTTTATTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCCTGGGTTTACTTACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCTGCCAATTTTTTGTATTTTTAGTACAAAAAATTATATTTTAGACGGGGTTTCACTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCGCCCGGCCCAAACTTTTTAATTTTATTGACTTATTTCTATTGCTTTGTTTTTCTGTTTCACTGAGTGACACCTTTATCTTTTGATAATTTCAGTTCTTCCATGTACTTTCCATTTCATTTGCTTTTTTTCCCTGGTTTCCTAAAATGCACTCTAAGGTCATTGATTTGAGACAATTTCCTTTTCTAATTTAGCTGTAGTGGAAGCCCACAAATTTGACCTGCTGTATTTTCATTTTTTCATTCAATTTATACTTTCTCATTTCCCTTTAGAGTTTTTCCTTGATTTGTGTTCTTTAGCAGTGTGCTACTTAGTTTCTAAATGTTTGGGAATTGATTTTTCCAGAGCTCTTTCTATTATTGATTTTTAGTTTAATTGCTTTGTGGTTAGAGAACATATTTTGTATGACTTAAATTCTTTTAAATTTAATAAGATTTGTTTTGGGGCCCTGAATATTATTGACCTTTGTAAATGTCCTGTCGCATGTGGAAAAAATATATATTCTGTTGTTGGAGGTTGGAGTGTTGGAGTGTTCCATAAATGTCAACTAGGTCAAGTGAGTTGACATTTTTGTCAGTCTTCTCTATCTTTGCTGACTTCCTGTCTACCTGTTTTATTAATTATTGAGAAAGGGTTATTGAAATATTTGCCTATAATTAGTAATTTGTTTATTTCTCCTTACAGTTTTATCAGTATTTGCTTCAAATATTTTGAAACACTGTTAGTGGATGTATACATTTTTAGAATTTTTATGTTCTCTTGATAAATTGAACCCTTTATCATTGTGAATTAATGTTACTTTTGGTCAGAATATTCTGCAGTCCAAAATTGACTTATTCTGTTATTAATCTAGCAACTGTAGCTTTCTTTAGATTAATTTTAATACATTATATAATTTTCTGTTTTTTTCTTTTATGTATTTTGTTGATTTATATTTAAAATTATCCTTTTTGAAGACAACGTACAGTTGAGGCTTGGATTATCTGATAATACTGACTTTTAATTAAAGTTTTTAAACTCTTTAAAATTGCTGTAATTATTGACTTGCTAGCTTTAAATATTGCTATTCATTTCTATTTGTCTTTTCTGTATGTTGTTTCCCTTTTCACCTATTTTCTGCCTGCTTTGGGGTAAGATGAGTATCACTTATAATTTGATTTTAATACCTGTTGGCTTATTTGCTATAACTCCTCATTTTGTTGCTTAGTGGTCTTTTTAAGGTTTATAGTATACACGTCTAATTTATCGCAGTCCTCAAATGATGTTATTTCACTTCAAATATAGCATAAGTACCTTACGACAGTATATTTTTAGGTGTCTCAGCTTTTGTGCTATCCTTATCATACATGTGATTTTACATATTTTATAAACTCCACATTACATTGTTATTATTGTTTAAAAAGTCAATATATATTGTTTAAAAATCAATCATCTTTTCAAGAGATTTAAATACAAGGAAATAACCTTGTGCATTTATCCAAGGTGGTTACCATTTTTGGTTCCCTTCACTCCTGTGTGTAGATACATACTAACTTCCTTCTGCCTGATGGACTTTCTAGAGCATTTCTTGTTATGTGGGCCTCATGGTGATGAATTATTTTGGCTTTGCATGTCTAAAAATGTCTTTATTTTTTCTCATTTTGAAACGTATTTTTTTTTCTGGGTATAAGATTCTAAGGTTTTCTTTCACTGCTTTAAATATATTGTTCCACTGTCTTCCTGCTGGTCTTGGTTTTTGTTTTATGAGAAACTTGCTGTCATCCCTATTTGTGTTCCTGTGTGCATAATAAATCTTTTTCTTCCCCCCTGGATGTTTCTCTTTCTCAGGAATTTTGAGCAATTTGGTTATGGTGATTATGGTGCCTTCATGTGATTTTTTTCATGCTTCTTGTGCACAAAGTTTGTTAAGTATCTTCAATAATTGGGTTTATAATTTTCATCAAATTTGGAAAGTTTTTGGCTATTATTTCTTCAGATATTTATCTGCCCTGCCCCTTTTATTAACACTGATTACACACGTTAGGGCTCTGAATGTTTTGTTATACAGATTACCTATGCTCTTTTCATGTATGTATTGAGTCTGTTTTAATTCTCTCTGTGTTCCTTCTTGGGTAGTTTCTACAGCTATGTCTTCAAATTCGCAAGTCTGTTTCTCTGCAATGTCTACTTAATGCTATTCAGTGCATTATATTTTTTATCTCATTCTTGTAGTTTTCATTTTTCAAGTCTGATTTGGATCACATTTCTATTTAACCTTTTGAACATGGGGAATAGAGTTGCAATAACAATTTTAATATTCTTGTATGCTAATTCTAATATTTGTATCAGTTCTGTGTTGGTGTGATTGGTTACTTTTTCTTCTCGTGTTACCTCATATTTTCTGCTTCTTTGTATGCTTGATAATTTTTCATTGGTTGCCCAACAATGTTAATTTATCTTGTTGAGTGATGGATTTTTTTGTTTTGCTGTAAATATTCTTGAGCTTTGTTTGCCACTAAGTTACATCGAAGCAATTTGATCCTTTTGCATGTGCTTTTAAGATTTTTATACAGGACCTCATGTTCAGTCTATGGCTACTTATTCTCTGCTACTGAGGCAAGACCCTTCTGAGTATTCTAGTGGCTCAGTCCATTTGTGCAGCCGTAACACAATACATGAGAGTGGGTAATTTATAGAGAATAGAAATTCATTTTTCACACGAACATTCACACAAAATTTATTTTCTGAAGTCTGGGAAGTTCAAAATCAAGGCACTGGCTGACTTAGTGTTTGGTGAGGGTATCTTCTCACAGTGTCTTCACATGGTGCAGAAGGCAGAAGGGATGGAAGGGCCAAAGGCACTAGGGTGCTCCCTTCAACCTCGTTTATAAGAGCACTAATCCATTCATGCAGGTGACACCATCATGACTTAACACCTTAAGGCCCAGTCTCTTAATATCATCACCTTGGGGTTTCAGTTCCAACACATGAATTTTGGAGGGACACATACTTTCAAGTCATAGCATTTACACAAGGTCTCATAAATTATCTACCAGTTTGGCCACAAATTTTGGCCTGGTATGAGTGCTAGGCACTGTTTAATTTTGGGGAGTTCTTTTCTTAGAGTATTAGTCAGGTTCGCCAGAGAAACAGAACCAAAATAGATATATATAGGATATATTCTCTCTATATATTATAATAAATATTATATTAATATATTGATATATTAACATTAATATATGATTATAATATAATATATAATTATATTAATATAATTATATAATATATTAACATGAATATATTATATAAAATGTTAACATTAACATATGTGTTATATATATATCATCATGATAGATAAATATATATATTTATTTGCTAATTATGAGGAATTGGCTCATGTGACTATGCAGGTGGAAGAGTTTCAGGATCTGCAGTCTGCAAGCTGGAGCCCTATGGGAAAGTAGATGGTGCAATTCAGTCTAAGTCCAAAGGCCTGAGAACCGGGGGGAGTCAGTGGTGTAAACCCGTGGGAGGGCAGGAGAAGTCAGAATGATATGTCTCAGCTCAAGCAGTAAGGCAAGAAAAATGGGACAAATTCTTTCCTCTGCCTTTTATTCTTTTGGACCCTCAGTGGATTAGATAATGCACCCCCACCTTGAGGAGGGCAATCTACTTCACTGACTCTACCAATCCAAATGCTAATCTCACCCAGAAACACCCTCACAGACACGCCCACGACAATGTTCCATCTGGGTACCCATGGCCCATTTAAGTTGACACATATAATGAAACATCACACCCAACCTCCGGTAGTTTATGCACATGCATGCCTTGATCAGTACTGCTGAACACTCAACAAGGACTCTATGCTGATCTCTGGAGTTTTCTCCCTGTGCAGCTCTGTTCTGTGCACGCTATCTGCCTTGTTGTCCTGGAATCTCAGCTGTCTCTTCAACTCAGGGACTCTTTAGGGTTCTGCCTGAGTTCCACTTTTCTATGCCATAGCGTGGAGACAATGTCAAGGCAACTGTGGAGTTCACCGTTTTCTCTCTCTCAGGAATCACTGTCTTTTGTTGCCTAATGTCTGGGGACTTAAAAACTGTTATTTTGTATATTTTTTCTGTTTTTTTTTCTTGGCTGTCTCAGGCATGAGAGTAAATGTATTTCCTGTTATTCCATTTTATCTGGAAGGTGAAGTTAGCGTTTCTTTTTTGCAGAGATTACTACCTCCCTGGCCCATTGCGAGGCCTCCTTTGCAATTATGATCCATCACACTTGTGACCACAGTATCTCCTTTTTTGTTTGTTGGTTCAGTGGGATGAACAGCCTCAAATTTAGGTCCCAAATTCAAAATATTGATCAATTTCAAATCCGTATAAATCAAATTATTTTAAAGTGCTAACTGTGCTGCATATCTTTTCAAGCCCGAAGACAAAGAAAATGACTCACTGAGGAGCAGTAGAAGCAATGACGAGGATGATGTCACACATTTGCTTGGTGTCTACTCAGCACTTGTGCTTGACATCTATGATCTCATTTGGTTCTGAATCCCCCAGAGTGGTGGGCACTATTACCATCTCCATCTGATGTATGAGGAAACTGGGGACACCGTGTATGGAAGGATGACCGAAGATTGGTTAAGACTAAACTCTCAGCTTTGCCGAAAGTAAGACAGCCCATCAGGAAGGTGAAGAGCCTTGGACAACTGTGCCTCCATCAGGGCCTTGGTGGTAAGGTTGGCTTTTCTGGTGGGAGACAACCCACTGCTTTCTCAACCCTTTCTGTTCTTACCTTAAAGTCCTACCCAAGTAGACCTCATTTCCAGGAAGTCTCTTTAATAAAGGGTGGCTCCCTCCCATCCCAGTTCCTTAGTGACCTCCTGTAAGTGGTATCATTTTAGTTCCACCTCTGGGGAATATGTGCATAAAAACCTTGGGTTTTCAAAACAAGGCTCAGGAGAGAATATCTGAGAGTAAAGGACATGAACACTTCTCTTCATATTCCCAGGACCCTCCAGTGAACATGCCTTGTTTCCATCTGCCCATCACCTTTTCCTGCCTTCTTCTGATGTTAGGATCATTCTTTTCTGGGAGTAGACCACTTATAAGGATTTAGGTGGGTTTCCCAAGCAGATATCTCATGTTCTGGGTCTGCTTGGCAAGCCAGAGTGCCCCAACCCAGATGATGAGCATGGTTCAGGAATATGCATGTAATCCATATCAGGATGATCAGAATCCACTCAAAACTTATCTTTTTACCAAAACTATTCAAAAGCCCTCCTCTCCTAGGGTTGGGAAGGTGTATATGGAGCTAGAGCTTCTACAGCATGGAAAGAACCTGTGAGCAGTGCAGGAGTCAGAGCCCAGGGATGTTACTGGGTGTCTTGACCCAGCTGTGCTCCTGGACATCCAAGTTTTGGAAACCAATACTTCTAGCTTTTGTTCATGTTCATTTGAGCTTAATCTCTCTAGCTTACTCGTTTTTAGCTTTCTACTGAGAAGCCATATCCTCTCCACTAACTGTTCCAGGAGTGATTAATCACCTTACGAAGGAAGACCTTGCCTAACACCAATTTTCAGATGATATCCCAACATTCATGAGAGGTGGAGGGGAGTGTTCCTCCAACTTGACCCAGCAATCATCCCAGAGCCCCTGATGTCATCACAGCAGCCTGGGCTTGCTCACCCGTGTTGTTGTGAGCCTCAGCGATGATGGTGCTGGGTCTGCAGAGTTCTGGCTGCAGGATGGAGTTGGAATATTGTACTCAGTGGAACTGAGCTGGGGCTGAACAAAGGCAAATCTTCTGCCCTGGGGATTAGGCATTCATCTGTGCCAACTCTCTTAAATATTTACAGATGTGGATTCGTGACAATAAAATTTGTGTAGGTTATATTTAGAGAGAAAACGAAGAAACATCTGAGGAACCCCTGCTGTGTGCCATGTCCTGTGCTGGATGCTTTCTCAAGGTACTTCATCTCATCTTCACAAGCTTCCTGGGGGCTATTTTGGATGCTCCATTTTATAGATGAGGAAACTGAGGCCGAAAGAGATTATATGACTTACCCAAGGCCATGCAGGTCAAAGTTCTAAATGATACAGCCAGGACTCAGCCCTAGGTCTTCTACTCTAAGTCAGGTTTGCTGTGAGTCGTGAAGTGGGTTAAAATGCATGTGACAGAATACCAACAAAATAGGGTTGGTCAGGAGATAGGCAGCCTACACTCTAGAAAGTCAGCAGGAACCAAGGTACCTTCTGACTGTCTCCTCTCCCATCCTAATCCTCATCCTCATCCTCACACACACAAGCTAGAGGCCACATCTTGTCCATATTCCAAACAGAAAGAAAGGGAAGGGGAAAGTCCAAAAATGGATGTTCCAGCAAAGTCTGCCCCAGTATGAGATTTCTGCTATTGCCATAATAGCTTACCAAAAATGTAGTCACTTTGAACAATGCAAAGTTATTATTTGAGAGTTCTTAATGTCAGAAGTCTGACACCGATCTCATTGAGCTAAATCAATAGAACAAAGGGGCTGCCTTTCTTTCTAGAGGTCCTGGGGGAACATCTGTTTCTTTGCCATTTCTAGCTTCTAGAGCCACCTGCATTCCTTGGCTCATGGCTCCCATCTCTCATCATCATAGCCAGCAGTAGGGTGAGTCCTCACACTACATTTTTCTGAGTGCTTCCATCATCACATCTCTCTCTTTGAACAGAGCCAGAAAAGGTTCTCCACTTTTAAGAACACATGTAACTAGTTGGGGCCACCTGCATAATTCAAGAAAACCTCCCTATATCAAGGTCTTTACCCTTAATCACATTTGCAAAGTCATTTTTACCATATGAAGTAATACATTCTCAGGTTCTAGGCATTAGGATGTGGGTTGGGTGGCTGTTATTCCAATGGCCACAGCCCTCTTCTAATAAAGTTTCCCTACAAGCTTCATGTAAAATGTCTTGGCCATAATAGAGTCGCCAAGTTATTCCTGCAAGGGAAGCTGGGAAAAGTAAATTGTTTACTTAACTGGGCACATTGGCTTCACCAGCAGGGAAGACTGAATATTAGGTAATCTACTTGCTATTTCTCCTACACAGGCCTAGAGTTACACAAAACGTACTTGGGAGTTAACTTTCTTTTCTAACTCTCTGAAAAGGTTTGTCCTTGGCAACACATCTCCTTCCCTTTCTTTGGCCCCCAAGTGATACCTCATGATAGATGTATCCATATACTCACCTATAAGTGTATCTATCTATCTATCCCTCTATCTCTATATTTGCATTAAGTAGACACAGAGAAAATATTTGTTGAATAAATGGAGATTTGATCTCCTATATCTCATGTATTTAGCCTGAAAAAAATGCTAAGATTCTCTTAATTTCATAGAACTGTGATATAGATCTGTGATACAGCAGAAGTAACCCTGCAGTCTAAAGAGAAGATCTGAATTCAGTTCTACCTTTGCTGTATGCTAGCTTGGATGACAAAAGGCAAAATGTTTCACTGTCCTTAACTATGACATATAAACAATGTCTATCCCAGAAGACAGTTTTAAAATTAAATATACTAAATGGTACAGAAAATATTTCTGATTCCAGTAATATTTTGCTCTGTACAACTTAAAAATTCTTACAAAGCTCTGTAAATACTGTATAAAATAGAACAGACATGTTTTAAATGCATAGGTGAGCTTTCAACAAGGAAGAAGAAATCCTTGTGTGATAGAATCAATAAGGCAGCTTAAAAACCAAAAAGGAAGCATAGAATGCTGTAGATAGGTTTCACATTTTTTCTTCTAATGTTGAGACCACATTTTTCTGGGAGTAGACCACTTATAAGGATTTAGGTGGGTTTCCCGCAGCAGAGAGCTCATGTTCTGGGTCTGCTTGGCCAGCCAGAATGCCCCACCCCAGCTGTCAAGCATGGGGGATTACAGAAAATTCTAGGCCCCACAGGAGGCAGGTTTGAGTACTAGAACTGAGAATTCTGTATGAATGGTAGACCAAAAAAGAACTGTACCTCTAGAAAAGAGTGGCTTAGTAAAGAAATATAGTCATTAACTTAGAAAATCAACCAGAAAACTTACCTATCTCTGCTTGGACTCTGGGTAAGAGAAAAAGTTCAACACACATATTCAAAGCCAGAACTTGCATTGCATGGATTTGTGGAGATCAAATTTGCAATAACTGTGTCTTTCCAAAGCTCATAATCTAAAAAAACTAATATAAAAATAGATTCCATGCCAGTTATAGCCAAAATCTCTAAGCAGGAGAAAATCATAGAACAGTTATGTAGTAGATCTTACAGGAGAAAAATTTACATGTCAAAGTTATACCACATTTAAGGAAATAATCCACAGTGAATGAAAGACAGCAGAAACAATATATAGCATTAGAGTTCCCTAGGAATATTAGAACTGACAAAGACTGTAAAACTCAATTAGTATTTAAAAAGCAGATTTGACACAATTGAAGAGAGAAATAATAAACTGGAGGATAGGGAACAGGAAATTACTCAAATGCAGTATAAGAAGATAAAGAAGTGAACAAAAGATTAAGAAGCACCAAGGACAGAATGAATAAATCTAACATGTCTACTTGAAGAAAAGGGGAATAGCAAAAATGAAAGAGAAACAATATTCAAAGGGATAATTGTAAAAATAATGGAAAATATGAATTTTTAGATTCAATATTCATAACAGATCTTGGGACAAATAATTTAAAATATATTCATATCTGGACATGTAATTGGGTCAAAATTTGTATATTATTTACTGTATTTACTTTTATTTAATGTAATTCTCAAGCATTTTCTCATATGATAAAAACAGTTGTCCCACAATTTTAGTGTCTGTTCAATATTCTAATGTCTCATGATTTATTTACTCACTCACTGATATATAAATATTTATGGATTTATCCCTCAAACTAATATTTGTAGAGGTAACATGATGTTGCTCATCACTGCATAGAAATCTTCATACATTCAAAATTTACTTAGAATTCTAAAAGCAGAACTATTAAATGATATAACCTTTTTACGGCTCTTAAATTTTTTTTCAAACTTCTGGATTAATCTGACAAACACTACCTCAGGTGATATACATCGATATCAACAGTGATAAGTCATTTTGACAGTATGTGATGAATTGATATGATATGGTGTGATGAGAATGACCTGTTACCTACGTGGTTTTCCTCCCAAATTCATGTAACTACAATATAATCATTTCAGTTGAAGCACATTATTTATACTAAATACCTGACTTGTACTCCTCAAAATGATCAAAGTCATCAAAACTAAGAGAGACGCAGTCTCATTCTGTCACCCAGGCTGGAGTGCAGTGTGTCATCTCTGCTTACTGCAACCTCTACCTCCTGGTTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGCACCTGCCACCACACCCTGCTAATTTTAAAACTAAGAAAATTCTGATTAACAATCACAGCCAAGAGAAGCCTAAGAAAACATGACAGCTGCACATAATGTGCTATCCTGAATGGGATCTTGGAATATAAAAAGAACATTATGTGAAAATTAAGGATATCTGAACAAAGTATGGGATAGCTACTATAAAGACACATGCACACGTATGTTTATTGCAGCACCATTTACAATAGCAAAGACTTGGAACCAACCCAAATGCCCATCAGTGATAGACTGGATAAAGAAAATGTGGTACATATACACCATGGAATACTATGCAGCCATAAAAAAGAATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAACAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTTATAAGTGGGAATTGAACAATGAGAACACATTAACACAGGTAGGGGAACATCACACACCGGGGCCTGTTGATGGGTGGGGAGCAAGGGGAGGGATAGCGTTAGGACAAATACCTAATGTAGATAACGGGTTGATAGGTGCAACAAACCACCATGGCACATGTATACCTATGTAACAAACCTGCACGTTCTGCACATGTATCCAAGAACTTAAAGTATAATTTAAAAGAATAATAATGTATAGCTCAGTGTAAAGCCATCTGGGCCTGGGCTTTCTTTGTGGGAAGATTTTTAATTACTAATTTAATATTTTCCCTTGTTATAGGTCTATTAAGATTGTCAACTTCTTCTTGAGTCAGTTTTTGCAGTTTGTGTCTTTCAGGAAATTTGTTTATTTCACTAATGTTATCTAATTTGTTGGCATACAATTTTTTCATGATATTCTTTTGTAATTCATTTTTATTTCTATAAGGTCAGTAGTAATGTCCTCTTTTTTGTTTCTGATTCTATCAATTTAAGTCTTCTCTTTTTAAAAATTCTGATCAATCTAGCTAAAGTTTTGTCAATTTTGTTGATACTTTGAAAGAATTAGGGTTTGGTTTCATTTATTTTCTCTATTGTTTTTCTTTTCTGTATTTTATTAATTTCCACTCTAATTCTTATTATTTCCTCCTGATATGGTTTGGATAGTTGTCCCCTGCAAATCACGTGTTGAAATGTGATTGACATTTCACATGTGAAATGACCCCCAGTGTTGGAGGTGGGACCTAGTGGGAGGTGTTTGGGCCATGGGGTCAGATCCCTCATAAATGGCTTGATGCCCTCCCTGTGGTAATGAGTTACCAGGAGATCTGATTGTTAAAAAGAGTCTGGGACCTCCCTCCTCTCTCTTGCTCTCTCTCATCATGGGATGTGCCTACTTCCTCTTTGCTTCCTCCATGATTATAAGCTTCCTGAGGCGCTCACCAGAAGCCATGCTGGTGTCCTACTTCACAGCCTGCAGAACTGTGAGTCAAGTAATTTTCTTAAAAAATTACCCATCCTCAGGTATTCTGTAGAGCAATGCAAAATGGATTAACACAACTGCCTTATGCTTGCTTTAGGTTTAGCTTGCTCCTCTTTTTTCAGTGTCTTAAAATGTAAGTTTAGGTTACTGATTTGATAACTTTTTTCTTAATATAGACATTTGCAGCTCTAAGTTTCCCTGTGTTATATGATACTGCTTTTACTGTGTCATATAACTTTTGATATGCTTTGCCTTCTTTTTCATTCATATCAAAGTGTTTCCTAATTTTTCTTTTTATTTACTTTTTGACCCATTGACTATTATAATAGCGGTACTCCCCAAACTGATCTACAGATTCAATTCATTCCCAATCAAAATCCCAACAGCCTATTTTGCAGAAATAATAAGCTAATTCTTAAATTCATATGGAACTGCAAGGAACCAGAACAGTCAAAACAATCTTGAAAAAGGAGAATAAAGTAGGAGAAGTCACACTTCCTGATTTCCAAACTTACTACAAATCAAGAGTAACTAAGACAATGTGATACTGGCACAACGATATACATATTTATCAATGCAATGGAATTGAGAGTAGAAATAAACTCAGATATCTATGGTCAACTAACTTTCAACAAAGGTCTTAAGACTATCCCACGGGGGAGGAATAGTCTTTTCAACAAATGTTGTTGGGACAACTGAATATTCACATGCAAAATACAATTTTTAAGAATCTATGATTAAAGGTGGAAAAAAATATTGGGCTAGAGGTCATAAGATTTAAAGTTTAGCCTTGGCACTGCCAGTAAATAAGAGTGTAACTTTGGAACAATTATTGTACCTCTTTAGGCCTCTATGAGGGTTTTGGAGCAAGTAACATGGCTGCTCAGGTCCTATCCACATCCAACCTCTTCTTAGCCTGTGATGACTGTATCTCATGAGCTGTGATGATGTAGTGACAGAACAGGTGGCGCACCTTGGTCCAAAGCCAAGAATACCATTTTCACATATTCAGCACTTTGCCCCACCATCTGATGCTACTTGGCCTCCTTTGCCTGACCCTAGATCCTAGAGCATTCCTCCAGGGATAGGCATTTGATATGGTTAGACTTCGCGTCCCCCCCCAAACCTCATCTTGAATTGTAATCCCCAGGTATTTAGGGAGAGACCTGGTGGGAAGTGATTGGATTATGGGGGCGGTTCCCCCATGCTGTTCTTATGATAGTGAGTGAATTCTCAGGAGATATGATGGTTTTAGAAATGCTAGTCTTTCCTGTGCTGACTCATTCTCTCTCTTGCCACCCTGTGAAGAGGCGCCTTCCGCCATGATTATAAGTTTCCTGAGGCATCCCCAGCCATGTGGAACTGTGAGTCAATTAAACCACTTTCTTTATAAATTACCCAGTCTTGGGTATTTCTTCATAGTAGCATGAGAATGGACTAATACAGCATTTCAAAGTGTCTCCACAGTAACTACATTGTAGTTTATAACTTTGAGCAATTCCCTCATGTAGCCCTGTTATGTGATAGAAGGCTTTTATTTACTTATTTATTTATTTTTCCAGGCTGTAAGGCACAGAATGAGCCTTGTTCAAGTGACTATAAGGTGAAAAGTTTTATGTGAAAATATTGGTACATATGGAGAAACACAGGGTGTGTGATCAGCAGGGGATCTGGTCTTCAGGGGAAGTCACATACCTATTCAGGAGCCCATGGAAAGTCCTCACAGAGGGTGGTAGGCCTTGAATCAGGCCCCTGTGTCTGGCTGGTGGCTCAGGTGTCAAGCCTAGTGTTGTATCCAGGGTTGCACAGTTCCATAGCACAATGTGCAGCAACTCACCAGAAAAATGCATCTCAGAAGGGGGCCAAGGGCTTCACTAGACCTTGGAATCCCATGGAATATCAGAATGATGGTGACTCATAAGAATAGCCATTCTGTTTTGAGTAGTCACTTTCCAAACACTAGTTCCAACACTCCCATCCATGCAGGATATATGTTACTCTCCCTGTTTTCCAAATGAAGAAAGAGAGGCTCAGAGAAGTCAAGTGACTTGCTTGGTCACAGCCAGTGGGTTTCACAGTCAGGCCTCTGCCCTGATGTGTCTGACTTCAATCCTGGATATTTTGCCCTGCACAGTCTAATCTATTCTACTCAGACCTTGATTATTTTGGACCCAGCAGATGGTGTAATAATGTCTTGTTCTAAGTCATGATGCAGTGGAGTGAGTTGTTATGGCCTGAGTTGTGCCCCCTTCCCCACATTCTTATGTTGAAGTACTAACCTGCAGTGTGACAGTATTTGGAGATAGGGCCTTTAAAGAGGTTAATTAAGGTTATATGAGGTCATAAGGTGGGGCTCTAACACAATAGGACTGATGTCCTTATAAGAAAAGGAAAAGACAACAGGGCTGCAAATGCACAGGGAGAAGGCCGCGAGAGGACACAGCAAGGATGCGATCATCACAAGCCAAGGAGAGGCCTCAGGAGAAAACAGCCCTACTGAACCCTTGATCTTGGACTTTCAGCCTCCAGGTTGAGCACCTGGATTTCTGTGTTGTTTGTTTGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGAGATAGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAGCCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTTAGCCTCCTGAGTACTTGGATTACAGGCGCCCACCACCATGCCCAGGTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCATAATGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCTGGCCTGGATTTCTGTTTTTTAAGACCCCTACTCTATGATATTTTGTTATGGCAGCCAGTTCTCAACACTGAGAGAGAGAGTCAGGGTCAAAGATCTCTGCAGTCCCTTCCAAAATCTAACGTTGTGTCAGTCGAGAATGTTTGAACTTTTCATCTGCTTAGATCTCTGGACTACATAAAACTCCTAATTCCAACGTCTTGTTTAGAACCTAGCGGTTCACCTAGCCCTTGAGACTGCAGGAAAAGTGTCCAGCACTCATTCTGGGCACTGTATTTGGGGATTTGCATTTGTCTGTCCTTCCGCAGAGGGTCCTTGCTGTGCAGAATGGCCTGGGGTTCTCTGGGTAGGTGGCGCACAGCAGGTCTTCTGAAAGTGGCATTTCCTGCCATAGGAACGAGCATGGAGACTGTCCATAAGGATATCCTGGGTCGATGTCAAAAGCCCTGGGGCCCAAGTAACCAAGGGAAATCCCTCAAGACTGAATTGGGGGTGGAGTGCTGTATAACAACCAGATTGGTGAGTGAGGCTGCCTCATTAAAAAGATAGGTAGGTACAGTGCACCACAGAGGTAGTGATGTTCTGCCCCCGAAAATTCACATGATGGACCCAGGTGTGTGTTTGTTATGTTTTTAATATTATAAATGCTTGAGATACACTTTAAATTTCACAACTTCACCAACATGTTTCTTCTTCCTATATGTTCCCTCCAAATACTGGTGAGCCCGGGCGCCTTCCAGCCCAGCTCATCAGCATACACTTTGAGTACTTCTTTCCTTGCCGTAGGGAGAAGCTCGGTGATTTTCACCATTGAGAGCCAGCCTGAGAGCCCAGAACAGCTCTGGTGTGTGGCTTGAGGGCAGAGCCCACAATATCCCCCACCCTCGCCTGCCACAGAAATTCATCCCATAGGTGAAGCAAGGAGGCTCCACTCACTCCGCGATTAAGATGCAACCCCAGCCCAGAGCAGTGTGAGACAATGTGGAAATGCTTCGGGTTGAACTGTTGTATCAGCTTAGCTCTTAAGGAATAGAAGAAAGAGATAAATCTTGATGTCTAAATTTGAAGGGAGTTGGAGGGCTGAAGGGCTGTATGTGGGCAGTGTGAGGAAGTTAGGAAGAACTGGGTCCAGGTGAACCCACTGTCTTCCCCCAGTGTCCACAGTAGTCTCTGGGAGCCCTGCGTGGAGGGTACCCAGAGAAAGGGGGACCCAGGCAAAGCCCTTTGCCCTCCACTGTGCCTCTCTGCAGCAGGAAGAGAACAGAGACCATACAAAGAGAACACTCATACTAAACTTCTTCAGGTCCTTCCATTTCCCTCCAACCAGCCTACCCAGCCTCATGCTTCTAAAAAAGTCCCCCTAAAGCCACCGACATGACTGTACAGTCAGGACCGGCCACGCTGGAGAGCTGCTCCAAAACTTCAGGATGAAACCTGGTCTCTCAAAGTAATTCAGCCTGTGATTTTCAGCAATTCAAAACTCTATTTGTTATTAGTGCTACCAATAAATCTGAGAGAGACAAAAAGCCCCTTCCAAATGGCATTTCAATATTTACCTCTGCAGTTGGTAGTATGTTGATTGTTGATACCCAGAAACAACAGATTTCTTTTTCACAATGTGTCCAAACTGTCCCGCCTTGCCCCACTGAGGCATCAGCCAGCACCTCCTGCAAATAACATGCACGGTAGAGCGTAGAGAGAGACTTGGCATTTCAGAGTCTACTTTAAATTTTATCAGCATTACACTTTCGAGATTCAAGTTTGAAGCAATAGTCTGAAAGGAAAGCATTTTGAATTTCAAAAGCTGGGCCCTGAGAAACAATATGCCTTCATACTGAGTTTGTTTTCTTCACCCTGAAAAACAGATGATGTTTTCCTGGGCTGGGGAAGGGATGAAAGAATGTCAGAGGAAAAAGCAAGAAGTGGAGTCAGGAGATCCAGGAAAACGTGCAGGGCTCTCCCCAGTGCCTGAACCCTAGCAGCGAGGACAGGGTGGAGACAGTGGAGAGGCGGGGCGGAAAGGTGGAGCTAACCCCACTTCCTCTGAGTGCCCTCCCTTCTCCCAGTGTGGAGAAGGCTCTGGCTATCCTGCCACTTGGACTGACGGACACACACAGTATCACAGAGTTCCTTCCCACTCCAGCGTCGCCTGGGAGGCAGTAAACTACTTCCCCCTTGTCAGGAGTCAGGCACCTGAGTCCTCCCATGTTCCCTCTGGCCGCAGAGTGCCACAGGCTGCAGAGGGCTCCTTCCAGACCCCTAGGAGTGGCCTGAAATAGCTGGGAGGATGCTGTACTGGAGGGGCCCTGCACCCAGGAACAAGGGGTGACTGAGCCTCGCCCTGCACACACTGACGTTCACCCTGACAATGCAGCCTCAGGGATGACAGACAGGAGATGATGGGACAGACACCCAACCCCAGCCACCCCTAGGTCATGGCACAAAGGAGCCATCCAAAATAGCCACACTCGGTGGCAGCTGGGACAAGACACACACATACGTGCATGTGTGCATGTGTGTGCGAGGGAGACCTACGTTCCTTGGAATTTCCTTTCCGCCATTGGTGGAAGGGAGCTTACAAAGTAACTTCTGTTGTATACACATAGAGCTACATTTTTTGGAAACTTTGGGATTCATGTCCTACTAGTTTCTTTCATTTATGCTTTACAGCTAATGTTAGGCACATAAAAAAAGATATTATTGAGAGTAAACTTTATTGCCAGCACTTTAGAGTACAAATAGATGTAATCTATTTCCACCTGCAGTTGAAAACTTATAAAAAAAATTCACTATGGAGTGAATATTTTACTGCTATGGGAACTGTAAAACAAAACAAAACAAAAAAAACCTGTAAAAAATCTGTAAAAACAAAACAACTGTTAAAAAAAAACAAAGACACATAAAATTACCATGTTTTTAAATCCCTGAGGCAAAACCATCAACAAAATAAATAAATCCATTAGACTTTCAAATCACAATAATAATGCCCACAATGATTTTCTTCTGCTGTACCTATAAAACCCCAAATAAGAAACGATCTCATCTATAGATGTAAGGCGATAACAATTCACTCCACCTAGCGTGAAGCCCACAGTGAATGTGGAAGCTCAAAGAGACATTTCTGTGCCCACTGGCAGAAGGGCTATCAGGGGATGTGACATTTGCTCGTGGATGTCAACATGGAGAGAAAGCAAATCTTCAGTTTAGAAGAACTGGGTTAGATCAAAGCCACTCACCCTTATGCAAGAGAAGGGATCTCTTTTGAGAAGCCCGCAAGTCACTAGCAGACAATGAAACCATGAGAATGGCCTGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCATGAGGTCAGGATATCGAAACAATCTTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATGCAAAAAATTAGCTGGGTGTGGTAGTGGGCGCCTGTAGTCCCAGCTACTCCGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGAAGGAGGAGCTTGCAGTGAGTAGAGATTGCGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGAAAGAAACCATGAGAATGGACATGCGTTGAATGAGGACTGCTACCAGGAATACTTTACATGTCCTATCAGTGTAATTCCTGCAAAGGCCCCTGTGAGTGGGCTTGGTCTGCATTTATTATGCAATTCCCCAGGCGTCCTCACTCTAGCAGGGGAGCCAGGATGATGCTTCAGGTCCCCAGGCATCAGTGTCACCTCAAAACTGCCCCTGCACATTAATGTTCTCTGCAGACTCACATCTCATGGACCTAGCCCAGTTCACGGCCTGTGACCTGGCTTCTGGGGCTAAATGCAGGAATGTCTGAACCCTCTTGGTTTCTGCCATAGAAAGCAAACCCCTGCCTCTCCGAGACTAGAATTTCCGCAGAGTCTCTGTCTTAGTCTGCTCAAACTACCATAACAGAACACCATGGACTAGAGGGCTTAAAGAATAGACATGTATTTCTCACAGTTCTAGAGGCTAGGGGTTGGGAATGGGGCGGACCAGGGTCCACTTCTGGTGTGGGCCTTCTTGGATGCAGACCTCTGCCTTCTCACTGAATCTTACATGGCAGAGAGAGAGAGAGCAAGAGCAGTCTCTCCCTACAAAGGCACTAATCCTATCCTGACAGCCCCACTCTCAGGACTTTAGTGATTCACCTAATCACTTCCCAAAGGTCCTCCCTCCTGATAACATTGGGGATTAGAGCTCCAACAAGTCAACTTTGAGGGGACACAAACATTTAGTCCATAACAGCTCCAAATATAGAAAACGGTGTCAGTTGTGCAACAGCCACAAACAAACAGTGAAGACCCCGATTCTCCCTCTCTCCAGCAGGGGCGGGCCCGTGGGTGAATTTACTTGAGTGGCCAGGATCTCATGTGGTACAAGATGCGGCTTCCTGGCACGGTTGGGAGTGTTAGGGATAATTCAAATGCTGGGAGGTTGGGAGCCTCAAAAGCGCAGACTCTAATCCTCACAGAGGGTCCAGCTTGCCTGCTAGTGGCTGTGGTTCTGCTACCAGGAAATACCTACAAAGCGAATGAGGTATTGGCTGCAAGCTTTTCATGTGTTCCTGGCTCCTGTGTGACTGAGGCCCCAGGTACAGGCGGACATTTCCCGTTTCCTGATACACTGCAAGTGCTCACACTTGGATGCCTTGGTATGTGCAGCTCTTTCATCCTCGCACATCTTCCCCATTTGCCTTCCCAGCAAATTTTCTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAGAGTTTAGTTCTTGTCGCCCAGGCTGGAGTGCAATGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTTCAGGTGCCCGCCACCACGCCCAGCTGTTTTTTTGTATTTTTAGTAGGGACAGAGTTTCACCATGTTGGCCAGGCTGGTCTCGGACTCCTGCCCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCACCAGCAAATTTTTGCTCACTCCGCAGCACCATTTCAAATATAACTTCCTGTGACACCTTCCACAGTCCACTAGGCAGTGACCACATCCACAGGTATAGAAACATACTTTGGCTCTTTCTCTTTTACATTTCATTATAATTATAATTCTTTTGTATCGTGAGCCCTGGTTTTACATTTCATGCCACAGCAGATGCTGCTGGTGCCCTGCCTGTCCAAAGGCTGCTTCCCACACACACCTGAGGTTGTTTGCCTGAATGCTGTGTGCTGGTGTTGGGTGTATACTTGAACCACACACAAGGCAAGCCAGAATGTGAGGTTCCAGAAGCAGCCCTCAGCCAGAGAAGCTGGTGGGGAGTGGGTAGGTGAGCACTCAGCCTCCCCAGCCTTGGGTAGGATGACTATGAGCATGCTCAGAGCCTCGTCCCAGAATGGGCTCCCAGCGGTCCCCAACTCAGACAGGTCCCCAGCACCTAGGTCAATGCCTGACTTCAATTAGGTTCTGAATAAGTGTTTGATGAATAAAATCAGCCCTGAAGTTGATCACAAATTCATTCAGTTATTCATGGATGCAATTAACATTTCTGGAAGATCTATCAGATTTCAGCCACTGTACTAGAGGCAACATCATATATTTGAGTCATCATTTTAAAGAGACTAAACCATAATATAGGAGATAATACATGCAAATACATAGTATAGTTATCTATCTTGGTGTAACAAATTACCCCAAAATTCAGCAGCTTAAAACAACCATTTATTATCTTACATACTTCCTCTGGGTCAGGATCCACATGTGGCTTGGCTGGAACCCTCTAGCTCAGGGTCTCCCATGGGGTTGTAGTTGGGCTGTCAGCTGGCACTGCATCATCTGAAGGCTGGGCTGGGGCAGGGGGTCCACTTCCAAGGCAGCCGCTCACATCGCCGGCAAGCTGGTGTTGGCTGCTAGGAGGAGGCTCAGCTCTTCTGTGGACCCCTCCATAGTCTGCACGCATTTGCTGACATGGATTCTAAGTAACTTGGGAAAAATGTCTACTCTCGGCTCTCAGCTTTGTTCTGTCACCCTCTTGGTACCTTGACTTCAGGAAGAAGTCAATAAGCAGTATCCCACAACTTTCCCTTGTTGATCACTCACTGGGAAGCTAAAAATCCCTTATGCACAAAGACAAGAATGTTAGAGATATGGAACCACTCAGCTCCACACTCCTGGGGAAGTTGGGATTTCCAGCAGAGCCAGGGAGAAGCCCTCCTATTTCCTCATTCTTGCCATACCAGCAGCCAATCACCTGGGTGCTAGCTTGGCCACCTGCCAGCTATTTGACTTTGGGGAGGTTATTTAGCGCTCTCTGCCTCAGTTTCCCCATGTGCAAACTGGGGATGATAATAGCACCCTGGGAAGCATCCCTGCTGCTCAGCGGTGTTCTGGTGTTCAGGTCTTTTTTGAAGCTATGGAGATACTAAAATCAAAAGGGTTCTTAGAATGAGATGCTCAGTTCCACTTGAATGAGGACTGGGGAAAGATGAACAGCGAGACTGATATGAGCTGAGTGGGGGCAGAGCTCAGGAAGTCTGGGTACCCAGAAGGCAGGGGGAGGGAAGGCAATGGAAAGAAGAGTGGCAAGCTAGCAGGCCGAGAGTGGCAGCTACTGAGGTACACTCCGGAGAGCAGACCACTTGCCTGGGCTGCTCAGTGGGTGGAGTGGTAGGCATGCTGGCCCATGGGGATCCTGGCAGGGGGTGGGTTCTGGGTGCAGCCACATAGATTTTTTGGGACAAGTGTGAAGTGGCTTGAGAATGCAGAAGGCATTCAAGTTTTAGGGTGGCTTTGGCGAAGCCTGAGGGAGTGTTGGTGTTCTTGCTCCAACATCCATCCAGGCACATCCATCATTGTACCTGGAAGATGCCGGAGGCTAGCATGGGCCTGTGGGCAGAGGACGATGGAGGGGGAGAGTCAGGAGCAGCATCCAGAGGAGGGATCACAGAGCACGCTCTTCTAAGCTGTCCCTTCTTCCCAGCAGTGTGAAGTCCCAGATCTGCCAATTTTTCAAGAGGTGCCCATATGTTAATTAATTATATTAATATTGATAACTACTTCATAGTTGAGATCTGCACTTGGCAAGCAGTGATGAGGCCTGTTTCATGCACTGCTTCTAGTCCTGACATTGCAATGCCCAGATAGGAGCAAGACACTTGAGCCTGTAGAGTTACAGAGCTTATGGGATGCCTCTGGCTCGCCTGCAGCCACCTCAGGTGACTAGCTTTAGGAAAAGACCAGACAATGCCTTGGGTCTAAATGAGAAGAAACCAGAAAGTCAGCAGCAAAGGCCCCACTTGGCAGAGGTGATAAATTCAGGTCCCAAAGCAGGAGCTCCTTGCTTTGTCCTACAAGTAAGTCACCCTGGGCCCATGGATTGATTGACACAAATATCCACAGGGCACTTTTTGTGTACCAGGCTCTGAACCAGACTTCTGGTGGTAGAGACAGATGAGTGACTACACATTCAAAATGCGTTGTGCTCAGTGGAGTAGACGTTTGCAGGACATGTGGTAGAACAGGGAGCAGCCCTGAAGGAGACTTGTTGGAGCATCAAGTTGCGAGAAACTGACCCCCAAACAGGTCTTTGAAAGGAGAATGGCAATTTGATATTAGGCAAGGAGGAAAAGGTCTTATCAGTGAGAGGATCAGTAAGCATGAAAGTTCCTGGATAAGCTTGGGAATTACCAAGTGTTGAGAATTCATGTGATGTTGAGGTAGAGGTGAAGCGATGATTCAATGTAGAAGGCTGAGGATGCTGCTGGCCAGATCACAGGGACTTCTTCTTGCCAAGAACAGAGAACTGTTGTGCAAATCAGTTGTGTAAACAAAACAAAAATGTCTGCAGGAGGAACAGAAAGCCAAATACCACATGTTCTCACTTATAAGTGGGAGCCCAACATTGGGTACTTATGGACATAAAGACTGGAAGGATAGACACTGTGGACTCCTAGAGGCAGGAGGGAAGGGAGGGAGCAAGGATTGAAAAACTATGCACTGGGGACTATACTCAGTACCTGGGGGAGGGGATCATTCATATCCCAAACCTCAGCATCACAAAATATACCCAGTAACAAACTTGTGCATGTACCACCTGAATGTAAAGTAAACGTTGAGATTATAAAAAAAAAAAAAATTCTGCAGGTACTGCCCTTAATCACTTTCACTTGTGTTAGAATTATTTAACTGAATGTTAAACTATTTTGTGTTTAAATAAAAATGTAATAACTACAGTTGACCGTTGAACAACATGACCCATGAACAAAAATTCTTTTTTTTTTATATTATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATACATATACATGTGCCATGCTGGTGTGCTGCACCCACTAACTCGTCATCTAGCATTAGGTATATCTCCCAGTGCTATCCCTCCCCCCTCCCCCTACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGACTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAATGCCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATATATAGTCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCTCTGAGGAATCACCACACTGACTTCCACAATGGCTGAACTGGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTCTCTGTTCATGTCCTTCGCCCACTTTTGGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAAAATTTTCTCCCATTTTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCCATGTCCTGAATGGTAATGCCTAGCTTTTCTTCTAGGGTTTTTATGGGTTTAGGTCTAACGTTTAAGTCTTTAATGCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTGGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGGCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCGTTTTCACGATATTGATTCTTCCTTTTCTCTCATGGGTAGAAAAATTCTTTTACACGGATTTTCAGTAGAGTTCCACTTTTACATGGATTTTCTTCTGCCTCTGCCACTCCTGAGACAGCAAGACCAATCCCTCCTCTTCCTCCTCCTCCTTAGCCTACTCAACGTGAATACAATGAAGATGAAGACCTTTATGATGATCCACTTTCTTGTAATGAACAGTAAATATATTTTTTCTTCCTTAAGATTATCTTATAACATTTTTTTCTAACTTACTTTATTGTAAAAATATTGCATATAATACATATGACATACAAAATATGGGGTAATTGATTATTTACATTATCAGTAAGGCTATGGTCAACAGTAGGCTATTAGCAAAGTTTTTGGAGAGTTAGAAGGTATATGTGGATTTTCAACTAAGCAGAGGGTCAGTGCTCCAACCCCCATGTTGCTCAAGGATCAATTACAATTTAAATAATACTATTAAATATATATTTAATAGCATACATTGTGTATACATATATATTTATATATCTGAAATATATACACACATTTGTAAGCATTCAAAAATAGATATCTTATATTTTGTTAATATTTTGTAACATAGTCATAAAATAAAAGGTGAAAAATATAGTATTCACGAGTTACACCTACACCTTGACCCTATTCCCCTGCTGTGTTCTCTCCTCGTTGGTGCATTTGATTGCAAAGCCAATTATTTGCCATGTTTTGCGGAGAGGAGAGAATGAAGATAAGACCCTCCCACAGCACTTCCTTTGGCCAAAACATGGTCACCAACATTTGGGAAATATTTTTGCTAGATCAAATCACAGTTTAAGTAAGTGCTAAATTTATTACTTTTCCATCACGTTCCTCTCTCAGAGTTTCCTCATGCATTCTGGAACCTGGGTGCAAACAGGCCAGAGTCAGAGTCTATGGGCTGGATGTGAGGAATGTTTCCAGAGTGGTGCACAGGTGGGGAGCAGCCCTGCTGAAGCCTCATCAACCCCCAAAGGCAGTGCTTGTCATGTCCCTACTGGGAAAGACTTAAATCCTGTCTCCTCAAAACACTAACAACCAAGGCTAAGCATAAGTGTGGTTTCCATTTCCATTAAAATGTACGTTTTTGCACCTGGCTATGTTAAGGCTCTGCCGTGTGGAATGTGATAGGCCCAGCTGAGCATGCTGTTCACCCGTGTCTGATAGCCTGGACAAGGAGACCAGTCACCTGGGGGTGACACATGGTGCATGGGTCTCCAAGCTGCTCATTCCCAGGACATCCATCTGGAGCAAATAAGCAATAATGATGTTAGGAAAGGAAGTCTTTCAGTAAGTGCCTCAGGAATTCTCAACAGGCCTCCACGAAGATAAGATTACAAACATGTATATCCATAAACACACATCACTGCTTAAAATTTTTCTCCCAGTAGAGAGCCTCAATAGTAGATGCATTTAGACAAATCTTTTCTGTGGGAATACACTACTTCTGCTCTGGAGAAATAAATATCAAATACAGTCTAATGAAACTGCATTAGGGAAACAAAGCATTAAGGAAAAGGAAAACCCAGGACAGAGAATAGATTTGGGGTTTGGGCTTTTCAGATGCAAAAGAGAGAGCCAGTCTCCTTTGAGGGGTATCTGTCTGGCATCTGCTTTATTTCATCCTGTTAGTGAGATTTGAAGGAATAGAAAAGTGATTTCATGTTAATAGGATTGGACAAGAGAGCATTATCTAGGATGGCATTTTCCTTAGATGAGGTTTTGGGTACTTCTTATTGCAGTCAGTTCATTTATATTTTAAACACCTGCAAGACTACAGTGAAATGAACTCCCTCTTAATCATCATTATGGAGAATGAATAAATACATGCATTTATCTTGCACCAGGTAATTGGCTGTGAAGCATTCTGTGATCCTTTCATTAGGGTGATGAGATCCAAAAATAGATGGCAAGTAGGTTTATTAGAAACTAACAGGCCCACCTGAGGTGTAAAAAAATCCTGTAAATGCAGTGGTTTGCAGCAATTGTGTGCATGTGTGTGTGCGTGTGTGTGCATGCATGTGGGTTTTGGAGGGAGCAGCAAGGTGGAAAAATGCAGGAACTACCTCATTCTTCTACCTGCCTTAGGTGCCCTTCTGTGAAATGAAGCGAAATGTTTAGAAAGAACGTATTTCAGTATTTTAAATATTGTTCCAGCCATACTTACATATGCTAGTCTCATATCTGTCCTATATAAGCACTCTGCAAATTTTAGAACACTATATAATTTCATAGGCTCTATAATGCTTTGATTAATTAACAATTAATACTTTAATTAGCACATTGTAGTCTGTAATATAAAATGTAATTATCCATAACAGTCAATCTTGCATCATTAAATTGACCTAACCAGAACAACGAAAAAGCAAATAAACAGTGTAATTCACCCTCTTTGGAAAATCCCTGAGAGGGTTTCTCCACTCCTTCCTCTAGTGTTCCAGTTTGAGATCCTGTTGAGTAGATCTAGTCTGTTTCCATGAGCTCCTCTTCCGCCAGCATTACCTGCCATATTGAAATGCTGCATCACTTCAGCTGAGGATTAGGCTTTGGCTAATTATAATGGTATATTCAGAGCTCTGACTTGGATCCTAGCAAGAGTGACAGTATGGAAGGCGGAATGTTGGTTCCCCATGATTCTGACCCTCCAATCTAGTGATACATCTGTGAATATGTCGAGATGGCAACAGAAAAAAATGAATACAGCCTGGGCGCGGTGACTCACACCTGTATTCCCAGAACTTTTGGAGGCTGAGACAGGAAGATCACTTGAGCCCAGGAGTTCGAGACTATCCTGAGCAACATGGCGCGACCTCGTTGCTACAAAAAATACAAAAATTAGCAGGGCATGTTGTCATGTGCCTGTAGGCCCGGTTGCTCAGGAGGCTTGAGGTGGGAGATCGCCTGAGCCCGGGAGATAGAGGCTGCTGTGAAACAAGACTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTTTGTCTCCAAAAAGAAAAAAAAAAAAAGGAGAAGAATATAGAATTCAGTACTTGGAAGTGGTGTCCCGTTATAATAAATTCCTAAAAATGTGAACATAGATTTGGAATTGGGCAGTGAGCAGAGGCTGAAACCTTTTTGAGAAGCATGATAGAAAAGGCCTATATTGCCTTCCACAGACAGTAAAGATGCATATTTTAAGGGTTCTGGTAGTGAGAACTCAGAAGGAAGTAAAAGACTTGGTAGAGAAACCATAAATTCTCTTAGAGAGTAGCCATGTCACCACAAACATACTTGCAGTGAGCCAAGATCGCGCCCCTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAATAAAAAGAAATGCTATTGAAAACTAAAGAGAGGGGATCCATGTCATGTATTGGCAGAGAGCTTAGTAAAATTGTGCCCTGCAGTTATATGAAATGTATAACATACACAACAATCTTTGTCATTTAGCTGAAGACATTTCCAAACTAAGTGTTGAAGGCACAACCCAGACTCATCTTGTTGCCTATAATAAAACATGAGAAGAGAGAGATACATTCAGAAAATAACTGTTAAGCAAAAAGGAACCATGAGTGAATGATTTGGGAAGTGGCAGCCTATCCAAATAGCAAACACTGCTAAAATGGAGAAAATCACTGTCAGGAATGCATACTCTTGAGAAAAACTGAGAGTATGGTTTAACAAACTTTTGCTAGTGTCTCAAAAACATTAAAAAATTGACTTTATTTTTGATCATTCAGTGACACAAAAAGCTTTTGGAAGAGATTGAGAGTGTGTGAAATCAGTAATTTGAACAAATCAAGGAGGAAAAAGTTCAAAAAGTTAACATAATTGTGTCTATAAAAGTGTGGTGAATGAAGGTCGCAGAGCACAATGTTTGCCAAATAGAAAATTGTCTATTTAAGTCCAAGATCCAGACCTTTCAGCTGCCCTGGAATTGGTACCTTCCTTGTGTGCATAACACTATAATATTTTTTTAAACTATGTGAAAATGACGGAAACTAAAATTGAAGTAGAGCCTTCATGATTTCCGTTTGTCTTTGGTTTTCAGTTCTTTGAATACGGTGTGACTCTTTTTTTGGGTATTTATTCTGCTTGATATTTTCTGAGCTTCACGGGTCAGTGGTTTGGGGTCTGCCACTAATTTTGAAAAATCACAATTGCCCAATTTTTACTTCTTCAAATGTGTCTTCTTTCCTGCTCCATTTTTCAGCTCTTCTGGGATTCCAATCATCTGTATGTGAGAGTGATACTGTTGCACAGCTCTTGAAACACTTGTTTTGTTGGATTGTCTTTAGTATTTTTTACTCTTTGCGTTTCAGTTAGGGCAGTGTCTACCTCCCTAGCTTCAGTTTCAGGCACATGAATCTGGATCTTGGGAGTATGCCTTGCACAATTGTTACAGCCTCATCTCCACTTGGAATGTGATGTCTAGCAGTATTTCTGCTCCTCTATTTAGGGTAGAGCTTTATTTATTTTCTTGTTCCCCTCTCCCATCTGAGGTGGATTTTTATGAGAGCCTCAAGCTACAATTTTTCTTGCTGTTTCCCTTGCAGACTGGCTTTTGTATCATAGGGGAGATAGACGAGATATTTGTAGGTAGAATTTTATCAGTTGCAGCCCTCTCATTCCTTCGTCAGTATTATGAGGATGAGGAAAGCTTTCCCAGGAACCTCCCCAGTCATCCCCATGAGTACTTGGTGGGCTTCCTTGTTGGGTGTTGAGGGGGGACCTAACAGAGGGTAGCAACTACCGTGTGTCCGCAGCCCCCAGGCATCTCACATGCCTACAGTAGTACCCTAATGACTCTTATGGTATCTGTTATTGTCTGCCCCTGGTAAATAAATGTGAGGGTCCTGTTTCTCCCCCTGGTAGCCTGTGTCTCTGTACATTTTAGTTTAGTGGCTTGGCCTGAGTTCTCAGTTCTCTGATGGGTTAAGGAAATCATTCCTTGGTTGTTTGTTCAGCATTTTTGTTGTTGTTGTAAAGATGAGTGTGAGATTCCAGCTGCTATATCTTGAGGGTGAAACTGGAAGCAAGCATATTGCCTTTCCAGTCCTTACCATGATGCAGAAACTTTGCATCCATCCAAAGAGTCAAGATAGGGTATTAAGAGAAACCACCATCTCTGTTTATGTTATATTTGTTATGTAGAATAAGCATATCCAGTTTAATATGGAGAAAAATTAATAAATATAGTTTATCAAAAAATTAAAGGCACTCCAGTTTTGTTTTGTTTTTACTGTGCATTTCTTTCAGAAACTGCATTGTTAAAATTGGATGGTAAATCATATTTTATTCCTAGAAAGAATGCTACAATTGAGGCTGAGTACCCAAGTAATCATTTAGGATCAAATAAATCACAATCATAATGATACACTAACCACTCAACCTTAAATTTTTCTGACCATTTGAAATGGCTAAAGTAGGCTCCAATCCCCCATCCCAAGTAGTCATAAATATATTACCCACTCAATTTATTCTAGATTATTAAGGATATAAAATGATCTATGATGTACCACAGAGTTAACAGTAGAAATCTGAACTGTAACACAATTAAACCTGAATTTAATAAGATATATTAACTAATATATTAATGAACTATGATTTCTCTCAAAATTTAGAAAGACTTCTAATAAATAATTTGTAAAACTTAAACCTCTTTAGTGGTCTCATGAAGTTCAAACTGAGGTTTTCTTTTTCTTTTTTATAATGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCCATGGTGTGTCTCGGCTCTCCACCCACTGGGTTCAAGTGATTCTCATGCCTCAGTCTCCCAAGTAGCCAAGTAGCTGGGATTGCAGTCACATGCCACCATGCACCACCATGCACCACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCTAGACAGGACTCAAACTCCTGGCCTCAAGTGATCCACTCGCCTTGGCCTCCCAAAATGCTGGGATTACAGGTGTGAGCCACCCCGCCTGGCTGAGCATTTCTTTATGTTGCTAAAAATGCCCTTAAAATAACATGACATACTTGATAACTATTTATTTATTTATTTTTTAGAGACAGAGTCTCCTTCTGTCACCCAGGCTGGAGTGTAGTGGCACAATCATAGGTCACAGGAGCCTCCAATCCCTGGGCTCAAATGAGCCTCCTGCCTCAGTGACCTGAGTATCTAGGACTACAGGCACTTACCACCATGCCCAGCTAATGTAACTTTTTGTAGAGACGAGATTTTGCTATGTTGCCCAGGCTGTTCTTGAACTCCTGGCCTCAAGTGATGCTCCTGCTTTGGCCTCCTGAACTGCTAGGATTATAGGTATGAGCCACCACACCTGGCCGTCAATACCATTGTTCAAAAAGTAGACTGCATTTTCCTGCAGCACCTCCTTGCATCATCAAAGTAAAGAAAGGTTGTGGATATTTATATACTAGGTTTCACAAAAATGGTAAATGAAGCACAGATTTCAAATCCAGGGAAGGTTGTATAGCTCATCTACAGAAGTTCCTGCAATCCTCATTAGGGTCAAACCATTTATTATTACTGCCTTGAGAGTTGGACTTTTATAGGCTGCTTGGGTCCTCTTGGTTCCCAAACTGCTCTGGTGAATGTGCCTGTTGGAATGCAGGTCAGGGGCTGCTGAGTTCTCCCATTCGTTTGCATCAGCTGCCCTGGAGCAAGTCACAGTGTTGGCTGTGCACCCAAACCTGGACCAGAGTCTTACAGAATGGTGGAGTGAGGGGGAAGGCAAATTCTCTCCCAAAAAGCAATGATAAAACTGAACAAAACTTTTGTCAAAAACATCCATTTCAGGACTCTGAAACTGGCCAGAGATGTACAACAAATTTATAAGAGTTTATTCAAGAAAGACTGCTTTCAAGTAATAGCAGTGGAAATTTGGGGTGTGTTAGCCTGGGATTTCTCCCTCTTTATGTTAAACTTGACAAAGACCCCAAAGAAACTGTCATATGTATGTTCAAAGAACTCAAGGAAAACTTTTAAGAAGGAAAGGAAATAGGAATGTATGAAGATCATGTTTTCTTACCAACTTTGTTCAGCAATATTTTGTGGCTTTCTATTAAGCCATATGACACAACTTTCCTATCTGATATTAACATAGAAACACTGGGTTTCTTGTGGTTAGTGTTTGCAAAGTGTATTTTTTCATTTTTTTTTTCTTTCAACATTTCTGTGTCCTTGAATTTAAATCAGGTCTCTTGAAAACACCATATCGTTGGGTCAGCTTACCCTGTTTTATGATGTATTTTTCAAGAAGTGCTTAATCTATTTCCTTTTAATGAAATTTTTGATGCAAATGAGTGTACATCAACCATCTTGCTATTTGGTCACGATTTGTGTCATCTGACATTTTATCCTTCATTAGTTAGTTTTCTGACTTTTCTGGATGATGTATTTTTATTACTGTCTTTTTCATTGAGTTTTTAGCTATATCTATATTTTTAAATATTTCTCTTGAAATTACAACATGACTTAAGAAATAGAACTTATTTTTTAGACCAGTTTTAGGTTCACAACAAAACTGAGCAGGAAATACAGAGTACCTATCTACCCCTCCTCCCCTATCTTCACCACAGGCACAATTCCCCCCTTTATCATTCTCCTGCACCTTAGTGGTATAGTTGTTATAATTGATGGCCCTACCTTGATGCGTCATCACCACTCCAAGTCATAGTTTACACTAGGGTTCGCTCTTGGCGCTGTATATTCTATAGGTTGCGAAAAATGCATAATGACATGTGCCCACTGTTGTAGTATCCTACGGAATGATTTCACTCCACTAAAAATGCTCTGTATTCTGCCAATTACAACATATATTCTTATTAAACATTTTGTCTTGAGATAATTCCCATGCAGCTCAATACTGAGATAGATTTATGTATATTTGTCAAAGATAATACAGAAAGATCCTGTGTACTCTTTACCTAGGTTCTCTCAAATACAATAATCTTGCAAAACTATACCATGGCAGCCAGGAAATTGACATTGATACAATCCACTGATCTTATTCCAGTTTCTTCAGTTTTATAGTACTCACTTAGGTGAGTTCAGGTGTGTGTATTCAGCTCTATGCAATTCTATTACATGTGTGGTTTTATGTATCCACCACTTCAGCCAAGATACAGAAGAGTGCCACCACAGGGATCCCTCACTTTGCCCTTTTATTACAATACTCACTTCCCTTCCACACTGATCCCATTTCTAATCCTGGCAATCACTAATCTGTTCTCTGCCTCAGTTATTTTTTTAAAATCTCAATAATGCTATATAAATGGAATCATACAGTATGTAACATTTTTGAATTGGCTTTTTTCTTCACTCACTGTAACTCTCTGGAGATTTATCTAAATTGTCACATATATCAATAGTTTCTTCTTTTTTATTGCTGAATATTATTCCATGGTATTCACATATCACATTTTTTTAAAGCCACAGACCTACTGAAGGACATTGCTTCCTAGATTTTGTTTTTCTTGTTATTATGAATAAAGTTGCTAAAAACACTTGTGTACTGATTTTTATGTGAACCTCAGTTATCGTTTCCCTGGAATAAATGCCCAAGAGTGCAATTGCTGGATCGTATACTAATTGTATAGTTATTGTATAAGAAGCTGCCAAACTGTTTCCTAGAGTGACTGTACTAATTTACAGTCCTTCCAACAATGAGTAACTGATTCAGTTTTTCTGCATGCTTGCCAGCATTTTATGCTGTCACATTTTTGTTTTAGCCATTCTGATAGCTATACAGTGATATCTCATTGTGGTTTTAATTTGCATTCCTCTGGTAAACAATGAAACTAAACATTTTTATGTGCTTATTTGCCATCTGTATATTCTTTTCAGTGAAATGTCTATTGATATATTTGGCTTATTTCTAACTGGATTTTTGCTTTTTTACTGTTGTGTTTCGAGAATTCTTTACATGGTCTACAGGGTAATACTTTTTTGAGTATGTGTTTTGTAAATACTTTCTCACAGTATGTAGTCTGCATTTTCATTGTTTTTACAGGGTCTTGTGCAGAGTAAAAGTTTTTAATTTTGATGAGGTCCAGTTTTTATCTTTTTTTCCTTTAAAGGATCGTGCTTTTTGTGCCTAAAAAGTCTTTCCTAGCCCTAGATCTCAAACACCCCTCCTGCTTTTTTTTCTAAAAGTTATACAGTTATAAATTTAAGTCTGTGATCCATTTTGAGGTTTTTCTTTTTATATATAAGGTGTGAGGTTTTGGTTGAGATTCCAATTGCTCCAAAAGATCTACTTCTTCCATTGAGTTGCTTTTGCCTTTATGTCAAAAATCATTTCAGGATATTTATATGGGTCTATTTATGAGTTCACTATTTTGTACCACTGATTTACATGTTTGCTTCTTTACCAATACTACACTTTCTCCATTACTGTAGCTATGTAGTAAGTCTTAGTATTGGGTACAGTGTTTTCTGTCACTTTATTCTTATCTTCCAAGATTATTTTTTGTCTACTCTAGGGTCCCTGCTTGTCCATATAATCTTTAGAATAAACTTGTCAACATCTACAAAAACTTGCTTAGATTTTGGAGGGAATTATATTAAACCTATAGGTCAATTTGGAGAGAAAGTGTACTCACCATGTTGAGTCTTTAAATGAACATAGTACCTCTCTCCACTTATTTAGGTCTCTGATTTCTTTCATTAGTATTTTGTCATGTTCAGCATTCAGATACTGTACACTTTTTGTTGGGTTTATATCTAAGTACTTCATTTTCTTTGGAGTAGTTGTAAATGGTATTGTGTTTTTAATTTTGGTTTCTGCATACTCATTTTTAGTATATAGAAATATTGAGAGGTGAAGTCAGCTGGACTTCCTGGGTCGAGTGGCGACTTGGAGATTTTTTGTGTCTAGCTGAAGGATTTTAAATGCACCAATCAGCACTCTGTAAAAACGCACCAATCAGTGCTCTGTGTCTAGCTAAAGGATTGCAAACACACCAATTAGCACTCTGTAAAATGGACCAATCAGCACTCTGTAAAATGGACCAATTAGCGCTCTGTAAAATGGACCAATCAGCAGGACGTGGGCGGGGTCAAATAAGGGAATAAAAGCTGGCCACCCCCAGCCAGCAGCAGCAACGCGCTGGGGTCCTCTTCTGTCCCGTGCGTAGTTTGTTATTTCGCTCTTCACGATAAATCTTGCTACTGCTCACGCTTTGGGTCCGCACCACCTTTAAGAGCTGTAACACTCCGTGAGGAGGTCCACGGCTTCGTTTTTGAAGTTAGTGAGACCACGAACCCACTGTCAGGCAGAAACATCTGAAGGAACAAACTTCGGACATAACATCTTTAAGAGCTGTAACACTCACTGTGAAGGTAGGCGTGGCTTCATTCCTGAAGTCAGCGAGACAAAGAACCATCCGGAAGGAACCAACTCTGGGCACAATGTGATTAATATTTTTTGTGTTGATGTTGTATTCTGTTACTTTGCTGAAGTGACTTTTAGTTCTAGACCTTTATTTTTGTATATTCCTTGGAATATTCTATGAAGATGATCATGTCATCTGCAATTGGAGGTAGCCTTATCTTTTCCTTTCTCTTCTGCATGTTTTTGCTTTTCTCTCCTTGCATTATTGCAGCAGATAAAACTTCCAATATTATGTTAAATACAAGTGTTGAGAGGCGGAATCCTTGTTTTGCTCCTGATCTTAGAAAGAAAACATTCGGTTTATCACCATTAAGTACAATGTCAGCTGTAGGATTTTGTAGGTGTTTTTTATCGAGGTCACTTAGTTCTTCTGTATTCCTAATTTAGGGAGTTTCTAGCATGTGTCAGTACTAAATTTTGTCAAATTCATTTTTGTGTCATTTCCTTCTTTAGCCTGTTAGCATGGTGGATTACATTAATTGATTGCAAATGTCAAACCCACCTTACATTCCTGGAATGAATCACACTTGATCACTATTTAAAAATGTTTTTGTACATTTTTGTATTTAATTTGCTAATATTTTGTTGATGGCTTTTGTGTCAAAGTTTATGAAAAACGTTTGTCTATATTTTTCTTCTTTGGTACTGTTTCTGTCTTGTTTTGGTATCCGCCTTATAAAATGAAGTATGAAGTGTTCCTTTCTCTTCTATTTTCTAGAAGAAATTGTGTAAAATTTCGTCAGTTCTTTAAATATTTGGTAGAATTCTCCAGGGAAATGAAGTGGAGCTGCAAGTTGTTTTTTAGGAGCTTTTAAATTATGAATTCCATTTTTAAATAGTTTTCTTTACTAGAACCACTTAGATTATCTGTTTCGTGTTGGTTGCATTTTGGTAATTTTTGGTTTTTGAGCAACTGATTCATTTTTTCTACATTGTCAAATTTATGAGCATAAAGTTGATTATAATATTCCCTTTCTGCCATTTTAATGGCTGTGGGCTTTGTGGTTAGTTTCATTACTGATACTGTTGATTTGTGTCTCTTCTGTTTTAATTTTGCCAGTCTTGCTAGAGTGACATTGATATTTTTGAAGAAGCAGCTTTTTGTTTTATTTTTTCTACTTTCCTGTTTTCCGTTTAGTTGATTTCTGCTCTCACCTTTATGATTTCCTTCTGCTTGCTTTGGGTTTCTTTGGCTAATCTTTTTCTAGTTTTTTGAGGGGAAAAACTTACTGTTTTGAGTCCTTTCTTCTTTTCTAACATAAACGTTTAGGGTTATAAGATCCCCCTCAGCTCTGCATTAGCTACATCCCACATATTTTGATCTATTGTCTTTTTATTCTTATTCAATTCTATGTGTACTTTTTGAAATTTCCTTGGATCTCCTTCTTGACCATAGACTATTTAAAGGTGTATTATTTAATTTCAGAGTATCTAGAGATTTTTTTCTGTTGTCTCTCTAGGTCATGTACTTTTAACTTATCACAATCTATTTGTGAATAGTATTGTGAAACTTCATTAAAAAAGTGTAAGAAACTTACAACAGTGTAATTCTATTTTCCCCTCAATCTGGAGTTGAGCTGGTTTTGGTCTGGGTTGTAGATTTAATTAATTTCAGTTTACCACAGGTTTCATATATTTCAAAGGTAGCAGCCAGGGCCCTCCTTTCATTAGGAATAGAGAGCTAAGACTCTGAGGTCTCCCTAAGCTTTCTCGCTCATTTCCAGCTTCCCGTACCTTGGAAGAAATCCATGTTGCAGCCTGCCCTGGCTTCCGACTCCACAGGACCTCTCCTTCTGTCTGCCATCCTACCCTGTCCCAGGTGCCCAGCCATCACTCTGTATTTGAGATGAAATGTCTGAACGAAAAGATTTATGGGGCACGTAGATGAGTGTACTTTGGGGGCGCTTCTGGGTTTGAATCCATCACGCCTGGCCTACAGGGTCCTTCTAGATTTCTTTGGTTTCTTTTTGTCTCAGCCAAGAGCCGAGTCCTCCCTGCTTATGGCTGGCTTGTTCTTCCCACCACACCCCAGAGATAAAAGCAGTTGCAGGTTTTTATTGCTTTGGACAGGCTCGTCCCTCCCTTGAATGTTGTGCGTTTAGACTTCTATGCATTTTCAGGTCTCTACTGATTGTCACGTGTGATGATTGGAATAAATCAAGATTTCCTCATTGTTATATTGCGAGCAACAGCTTTTTACAACCTTTTACACTCTAACAAGAAGCAGAGCTCCCACTATTCTGTTTAACCAGCAAAACCTCTCAGCAACCTCATCTGTCACCCATGGCCTTGGAGTTTGGGAGCTAATGGTTTGGTTTCCAACATGTTTGAAAAAAATGTCATAATGCCTCCCCCATAATTTTGTCACAAATCGTATCTGTCTTTTCCAAAGTGCTACTCTCAGAAAAAGATACCTCTATCTCACAGATACAAAAATTCGGGGAAATCTTAGTTATTCCAACAGGTTGAGTAATTCTACTTTTCTCATTCAAGGCTGGAATTGGACACCTATTAATATTAGACCCTCATGTAAGTGGTACCTAAATTCTCACCTCTCCATACATGAATAAGGTCACAACTTTAACTGCTATGTCTTGCTTCAGAAGTTGGGCTAAGTAGGACTTCCTTTAAGTTAAGCACTATTCTGAGCACTTCAACAGACCGAGTCTTTTATAAGACTTACCTATCAACAACCTTATAAGGCAAGTATCATTATAATCCCCCTTTCAATGCATAGATACCTTGAGTGATGTGGCTAACGACCCATGGTTAGAAACCGAAGACAGGAAGTGTAGAGTCAAAGACAATGATCTGGCCGAGCACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGTGCATGCTTGTAGTCCCAGCTACTTGGGGTGCCGAGGTAGGAGAATTGCTCGAACCCGGGAGGCAGAAGTTGCACTGCAGTCCAGCCTGGGCGACAGAGTATATGCCATCTGAAAAATAAAATAATCAAAAAGACAATGATCTTTTCTTTTCCTCTAAGCTATATTGCCATGCACAGTCTGTGCCTCATTACCATTGGGTCATAATGTCTATGGCTGAGCCAATGATGCCTAATTTAATCATTTTGAGGAGTATGGTCAAGTCAGTTGCAGTCACAAAGAGAACACCTCTGGTTTGTACCATTTTTTTATTTGTTTGCTTTGGTTCAGAATTCTGTTTTTTAAAATGATTTCTTTTACTCTTACTATTATTTTATTACTGTTACTTTAAAAATTGTCATTACCCCATCCTATCTCCTTATCTACCCAAAGCTAACCTTGACATTGGTGTGGGGAAGACTTAACTTTTTGTGAAAAGTGTTTGCTGCCCTTCTTGAGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTGACATGGTGAAACCTCGTCTCTACTGAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCTAGCCTGGGCGACAGCGAAACTCTGTCTCAAAAAAAAAAAAAGAAGAAAAGTATTTGCTTCCCTTTCCTGGGGGAGGAGTAGTTTCTCCACCTTGCTGCCATTAGGATTGGCTGTGTGAATTGCTTTGGCCAGGGAAATGTGGGCATAAATGATCCTTGTCCCTTTCAGCAGAAGTAGTTTCACTTTTTCTTTTCCGTGTGCCATGAGCCTGGCAAACTCTGAGAGTGTCTGCTTTATCTACCAGATTCCAGAGTGAAGAGGATTTGGTGCCATGGTGTGGCTGATGGATATGTAACATAATAGGATGGGAAAAAAAGCGAGGGGGCAGGGGTGTGGAGCATTATTTGTTATTGCAGCATAACTTAGCCTTTACTTATAAAGGGTGCCCTGCCAAGACATGTTTTTATGATTTTACTAAACGTGTTATATAAAATATATCTCTAAACCATATGTGAATTGGTTCTCAAAGTGTGATCCCTGGATCACAAAAGGGTGAAAGCAAGATAAAATGGTTTCAGTCTTTTGGGGGGAAATAAGATAAAATATATTTACATAATAATACTAAGACATTATATGAAATTTTTTTACTCTCATTCTTTCATGAGGATACAGTGGAGCTACCTAAAGGTGTAAATGCTCTGATGCCTAAGGAAATGAATACTTGCATTCTTGTGTTTCAAAACTTTTTTAGCTTTAATTTCTTATATAGAAAAAATTAATAAATGCAACCCAAATGAAATAAATCTCTTTGGAACTTCAATAATTTTAGGAGAGTAAGAGATTCCTAAAACCGAAAAAGAGAAACATTGATGTAGTTTGCTGTTTAGTATATTTATAAATTTTACTTAAGTGATATTTGGTGACTTGCTTTTTAAATTCAACATTCCGTTGAGGTCTATCCCGATAGGTCTTTTCCTGTAGCCTGCACGTTGTTGGAAATGCCTCATAGAGTAACTCTGTGATTTTACTTTACTTACAGGACTATTGTTACATCTGTGGGAAGGAACCACAAGACAGTTGCTGAAGTATGAAAAAGACAGTTACTAAACTGTCTTTAGTTCAGTAACTGTCTTAGTAAAGACCTGATAATTTACTTTTTTACCTTAGGTATTGGCATATTCCACACATCTGTACTATTCTTGAATTTGATCACTTAGGAACGAATATGATTGGAACTCATTCATGTTTAGAGAGGGTGTCAAATTGAGAACCAGGCAGATCCACCTACACTAAAAATGACCCTAAAGTAAATTGGTGGAAGAAATCAGATCCCAAAGACTACTGGTGAATTTTGAAGTCTTCGTCAGTATATCCATATTAAAAGGAGATGACAGAAGCCAAAATAAAAGAATTATGGGTTGACAGGACAACTGGATTAAAATAAATGTCAGTTTCATTTGAAAGGGCTAACTTGAAGGTAATTTTTGAAAATAAATTTTGACTCCAGCTCTTCAGAGGATCTAAAGTGACCTTGATGGGCAGTGGAAGAAATCAAAACATGAAATTCCTTGAATAAAAATTTATTGACTTTACAAAATAAGTAAATAAATGAATTCAACCTTCTCTCGCTAAGTTAGTGTATGAAAGTGGGTACACATTAGACTGAGCTCATTCCTTTCAGCTGTTTATACTGTTATAAAATAGTTTCAAAAAGCGGAAAATACCTGCTCTTCAAAGTTTTTGGAGCATGTGACTTTATAAAGCATATGCATTTGATCACCTTCCCAAATGCCTTTCTTGTGCCAATGAATAATACATTTGCTTCACAATTGAAGTAATATACCCTCCTGCTCTGCTTCCTATCCTATTGCCAAATTCAGTGACTGAATGGGCATTTTCATATTCAGTCCCCTAACTATGACCTCTCGATTTTACAGAGAAGCTTAATCCCGGTTAGTCTCATTCTCTCACTGGGGATTCTCTGTTTCCTTGAGGGGCCTCTGAGATGAGAACAGCTTTGCAAGGACTGGGAACCTGTGATGAGCATAGTGTTGGAAACACTTGAGGCCTTTGTTCTTCCAGAGTAGACATCTCCAACTCCCAGGGACCCCTGCTTTCCCTCTGTCCCTGAATGCTGATTATGGGTCATGAGATTATGTAACAGACAGTTCATACCCTCTGCATGCAATTTTTTCCTACATATTTTGTTAGGGAAAAAATAAAATATACACAGTAGAGAGACTAGTATACTAGTAATCTAGTGTACTAATAACCTAGCTTCAAAATTGCCAACACATGGTCCATCTTGTTTCATTCATTTCTTCACCCACTCCACACTCTCCCCACTGCGTTATTTTTAGTCAATTAGTAGACATCATACATAAATCCTACAGTACTTGTCTCCGAAACACATTGATTCTTTTTTAGAAAACGTAACTGCCGGGGGCCGGGCGCGGTGGCTCGAACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAGAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGGGAGACTCTGTCTCAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAAAGAAAACATAACCGCTGGGCATGGTAGCTCTTGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGAGCAGCCTGACCAACATGGTGAAACCCCACCTCTACTAAAAATACAGAAATTAGCTGGGCGTGGTGACTAACGCCTTAATCCCAGCTACTGGTGAGGCTGAGGCAGGAGAATCGGTTGAACCTGGGAGACAGAGGTTGCAGTGAGCTGAGATCGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAATAAAATTAAATTAAAAAAATAAAAATTTAAAAAACATAACCATAATACTGTTACTTATACCTGAAAGTCTACAATTCTTCAATACCACCGAGTTATCCAGTCAGCATTCAAACTGCTCATTTCGCATCAAAAACGTTTTTATAGCCGGTTTTTTGGAATTAGGTTTCACAAAAGGTCCAGACATAGATTGGTTATGTCTCAAATCTATCTGTAGGTTTCCCCTTCCCTATTTTTATATCTTGCAAGGTGTCTGTTAATAAAACTGGATCCTTTGCCCTGTGGAACATCCCACAGTCTAGATATTGCTGATTGCAGCCCTGGAGTGTTGAACACGTTCCTCTGTCCCTTGTATTTCCTATAAACTGGTAGTAAAACATGGTCTTAATTAGATTCAGGCTCAATATTTGTGGCAGGAACGCTGTATGTTTAGTGCATTTGCTTGCTATTATGTTGCATCAGGAGATACCTATTGTCTATCTCCTTTTTTGATGTTAATATTGATCTGTGGGTTCAGATGTTATCAGGAAGATCTATCCATTATAAAATTTCCTATCAAATAATAGTTCCAGCTGCCAATGATGACCATTGCCTGCATACATTACTTCATTAGGGGTTTGAGAAAGCAAATATTCTAATTCGATCATTTCTTCTGAATTCATTAGCTGTAAAGGAATGCATGCTCATCAGCTATTGGGTTACCGTGAGTTATGAGTCAAAAGGCAAATGAGGTGAATTGTGCATGTGGCATTCCCCCACCCACTCTCCATGTGCTCAGCCTTGTCTGTGCCCTCATGGGCTGCATCAAAGGCTCTGTTGCCCACTGGATTCTGCTTGGGTATAGCTCATGGGAGTCCTGGAATGAGATCAAAGGGAGGAAGGAGAATGAGGATGGAGTTTATTCCCCTGTTTCCTTCCCTGTGCTGTGCCCCGGCGGGCTGCATCCATTACAGCTGTCTCTGCACAGACCTCTCTTACCTGGGTTTTGATAACCACTCCTTCTTTTGCTCCTCCGATCTGCATGAGATCATGGCCCCCTAAATGCCGTGGTGATCATGGCATCGCCACCCTGTGGTGCTGCCCTATTCCTTGTGGTTTCCCTACAAATACTGCCCGTAGCTTTTATACAACCCTTTTACTAAGTCTCATATTACAAAATTTGACTGTAGTGCCTGTTTCACATTGGGAGGTATATTATCCTTCCCCTCTTCCTTGTTTTTTGTTTTTAAATTTTATGGACATAACAGCTGTACATATTTATGAAGTTGATGTGATATTTTGGTACAAGCATACAATGTAGAATGATTGAATCTGGATAACGGGGATATCCATCACCTCAAACATCTATCATTTCTTTGTGTTGGGAACATTTCAAATCTTTTCTTCTAGCTATTTTTAAATATACAATAAATTGTCATTAACACCAGCCACCTTATTGTGTTATCAAACATAGAACGTATGTCTTCTATTGAGCTGTATTTTTGTACCTGTTAAGCAACACCTCTTCACCCTCTGCCTCCTCAGCACCCTTTACAACTTCTAGTAACCACCATTCTATTCAATTCACTGTGTCCATGAGATCAGTTTTTTTAGGTCCCACCTACGAGTGGGAACCTGCAGTATTTTTGTCTTTCTGTTCTGACTTAGTTCACGTAATGCCCTCCAGTTCCATCTGCATTGCTGCACGTGATTTCATGCTGTTTTATGGCTGAATAGTATTCCGTTGTGTCTATCTACCACATTTTCATTTTCCATTCATCTGTTGATGGACACTTAGTTTGATTCCATATCTTGGCTATTATAGATAGTATTACAATAAACATGGGAGTGCAAATATTTCTTTGATACTGATTTCCCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCAGGCTGGAGTTCAGTGGCGCGATCCCAGCACACTGCTACCTCCAACTCCCCGGTTCGAGCGATTCTCCTGCCTCAGCTTCCTGAGTAGCCAGGAATACAAGCATGCGCCACCATGTCCAACTAATTTTTGTATTTTTGGTAGAGCCAGGGTTTCACCATGTTGGCCAGGATGGCCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACAGTGCCCGGCCTAATCTGTTGTCTAAATCTAATTTCTATGATGAGAGTTCCCATTTTTAGGAATGCTCCTTGGTTACTTTCAAATGTGCTCTGTTTTTACAGTCTTGTCTTTCTTCAGCATACTTTTCACCCCCTCTTTATGACCTCAAACATTAAATGTGTGTATTTCATGCTCTGCGGCATAATTCCAATATCTTCAGGCTTTATGTATCAGCTTCTGAAGTTTGTGGTTTCTGCTGACGTGTGTTCGTGATGGCTTTTTTTCCTTCACAAATTCAGTCATTTGGATGAGCTCGTGTTCTTTGGAATTTTGTGGGAACTTTTAGGCCTGAGTTTAAAGCATGTTTTTGTGGAGAGGATTTTCGAAGAACTTTTTTTCAGTACTCTATCCTGCAGCACCCCTGAGAGAGCTATATAGACCTGCAACCCGCTCTGCAGAGGAGTTGTCACCTGGTGCACCCACTGAGGAGCTGGGTTCCATTCAGCCCCTCTCTCCTCTTGCTGTGCAGGCTCTCTATGCCTCTCCACCTGAGTTGTATGCTATAACTCTTGCTTTAGATTTAGACTAAGGATTTTTTGTTTATTGCACAGCTTGTCTCCAACTCATGGACTCAAGCGATGTTCCCAACTCAGCCTCCCAAGCAGCTAGGATTACAGGCTTGAGCCACCACGCCTGGCTAGACTAATGATTTTCAGACAGAATGTTGCAAACCCTTAGTAGTTCATGCTTATTTTAATAGATTACAAACAGGATTTTAAAAACAGACAAGAATAATATAACAGAAAAATAAAATGTTTGGCTGCCTCACAGACAGGGTTGTTTTGTGAAATTCAGTTTTAGATATAAACGTGTGGGTGCATGTTCATGCATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTGAAGGTATGTGCACTGGGTAAAGACATATAAAGTTAGAAAAACACTGCTGTAGATCAGCAGGGACCAGAATATATCCTCAGGACAAACTCTAGCTCTTCGTGTTTTCTCATTTCTGACTACATTGTGTCATTGAAGAAATCTTTACTACTTTATGGTTATAAAGTAAATCTCCTATACTCTCTTTTTAAACTTTATTGCTTTGCTTTTTGCCTTAAATTTATAATCCACTTGGAGTTGATTTTTACGTATATGGTGAATTCAGTACAGTTGTTCCCCCTTATCCACTCCCGTGTTCTTTTGACACAAACCTATTAGTGTTTGATAGCTAACTTGCTTTCTGGCACACAAAAATCCCAGATTCATGTAAAGTTTTTATCCCAAACCTGTAATCGTTTATTTCGCCAAGGGTCCCTGGTTCTTTTCTTAAGGCAAATGATACATACCACAATTTGTGTCCCAGAGGTGTTCGCTTTTATGTCATAGGCATTACTTTTAAGTTTTGAGTGGGCAGAGCTGGGAAATGCATTTACTTTTTCAAAAGGAGAGACAAGAAAAGAGATTGTACTAATGTTTCCAATTCAAATGTAAGTCTATAGGAGTTTTACTTAACTTCTTCATACTTATGTTAGAAATCTTGGTTTCTGATGACAGTAACCACTATTTGCTTCATTATACTATATATGCACACACGTAACTGTTTTAAAACAATACTAATATTAATAATAAAAAGTACACTACTGAGTAACAATAGTTCTTTTAGTTCAGTGCATCTATCTCACTGAGGGTGTATAGTTAAAGTGTTGTGGTTGGGGTCACTTGAAATAAATCTTCCTGGAAAGTTTTTGCCACCAACTTCTAAACCATTGGGATTAGTCACATCAGTCCTTACTGATGGACTTTCAAGGTTGTCTTTTGCTGTCATAAATAGTGCTGTGATACATAACCCTGCACATATGTCACTTCATATATTTGCAGTGTGTTTTATGGATAGATTCCTAGAAATGGGATTCCTAGGGAAAAGATAAAACATTTTTCTTGATTTTGTGAAATTCCCCTCTGTTGGCATGGGGGCATTTCATACCCCCACATTATATGACTGGGAGTGCCAGTGCCAGTTTTTCCACAGCTTTAATGTATATTTTTAAGCTTTTGGGACTTGCCAATCTGATAGGTGAGAAACGGTATCCCAGTGTAGTTTTAATTTGCATTTTTCTTATTATGGTAATATTGAACTCAGCCTCATAAGGTGTCTACTGTTAAAGTGAGGACATTGATGGGGAAGGAAAGGGGTCCTGTGTGGGAAGCCCTAGAAGACACACTTTTCAGCAATGCTTTGAGGAATAGGTTTGTGAGGGGACTCCTGCATCCTTAAAGAGCTCCCTGACCGCTCTTCTCTGCAGGCCGGACCTTACAGTGGGAACCATAGTTACTCAACTGGAAAGCTTAAATGCAGTGGGAATAAACGGATTACAGGATGTCAGGGGCCAAGTTGTGGAACTCAACTGCAGAAAACAAGGTGGGCATAGTTACTGTAACGAATAGCAGAGACAAAGCAACAGTGAGAATAGTCTGACTCATGTAGACTCATGGCATTGGGTAATTAGTCATGCGTTCCTAGAAGTAAAGTAGATAGGAAGCCCACTACATTCTTCCTTCATATATATAAACAAAAAACTTCCAGGTTAAATGAATGGAAGTCTAACTCAAATCCTAAAAACAGAGATTCACAGCCCCTCAATAAATTCCCAGACTTGAGCAGTTTTCAGACTCAGAATCCCTTGAATGAAGGAGAAGCTAGATCCTCTTGAGGAAGAAGCCTGGCACATTACTGACAACTTATACTTTTAATCTTTCTGTTATCCTTCCCAAAGGGTCCTGGGACCTTCTGGCAGGGTAACTGTGCATTTCCAATAAAGAAATAATCAGAACTTTCAGGGACTGCTGCATACTGTCCTTTAACTGACATTTATTCCAGGAGACCTGAAATATCACTGGCCCTCCAGGTAGAGTTGAGGCTTATGGAGGTCAGGTAATCAGTAGATTTTTAGCTCATGTCCAACTCACAGTGGGTCCAATGAGTTGTTGAACCCATCTTGCGGTTATTTCCCAATTGGAATAGACATACTTAGCAGCTGGCAAAATCTCCACATTGTTTCCCTGACCCGTGGAGTAAGGACCATTATAGTGGGAAAGGCCAAGTGGAATCCATTAGAGGAAAGTAGTAGATTTAAAGCAATCCTGCTACCCTGGAAGGATTACAGAGATTAGTGCTGCCATCAAGGACTTGAAAGGTGCAGGGCTGGTGATTCCCACCACATTTCCATTCAACTGTCCTATTTGCCCTGTGCAGAAGACAGGTGGAGTCCAGAGAATGACTGTGGATTATCATAAGCTTAACCAAGTGGTACTCTAGTTGCAGCTACTGTGCAAGATGTGGTTTCATTGTTTGAGCAAATTAACACATATCTTGGTACCTAGTTATGCAGCTGATCATCTGGCAGGTGCCTTTTCTCCATACCTGTCCACAAGGACTATCAGAAGCAGTTTGCTTTCCAGCAATACACCTTCATTGTCCTACCTCAGGAGTGTATCAATATGCCATCCCTATGTTATAATTTAGTTTGCAAGGAACTTGGCTATGTTACTTTTCCAGAAGACATCACACCGGTCCATTATATCGATGATAAACTGACTGCATAAAAACACTCAGCAAGAAGTGCAACTAGTGAATAAGAAGTACAAGTACCCTAGATTTATTAAGACATTTGCATATCAGAGGGTAATAAATAAATCTGACTACAATTCAGGGGCATTCTACTAAACTTCTAGGGATCCAGTGGTGTGGGACGTGTTTAGATGTCCCTTCTAGAATAAAGCATAAATTGTTGCATCTGGCCCTTCTAAAACCGAGAAAAAGGCATAGTGCCCTTTTCTTATAGTGGGTCTATTTAAATAGTGGGTCTATTTAGATTTGGAGGCAAAATAATGGATCTGTTTAGATTTAGGTGCAGTCAGTTTATTCCAGATTATGCATCTGGAACAGGGAAATATCCACAAGATGGATTCAAGGACCCACTGGACCAACTGCCCATCTACCTAGTGACTAAAAACGCTGCTAGTTTTGAGTGGGGCCCAGAGCAGGAGAAGGCTATGCAACAGGCGCAGGCTGCTGCGCAAGCTGCTCTGCCACTTGGACCACATGGTCTAGTGAATCCGATGGTACTTGAGGTGTCAGTGGCAGATGTTGAGGCTGTCTGGAGCCTTTGGAAGGCCAGTGTAGGTAAGTTGCAGTATAGGCCGTTAGGATTTTGGACAAAGACTCTGCCATCATTTTCATATAATGATTCTCCTTTTGAGAGACAGCTCTCGACCTGCTATTGGGCCTTGGTAGAAACTGAATGCTTGACCATGGGCCATAAAGTTACTCTGCCACCTGAGCTTATCATGAACTGGGTGTTTTTGGACACAAAAAGCCATATAGCTGGGTATGCACAGCAGCACTCCATCATCAAATGGAAGTAAAATATACATGACTGGGCCCGAGCATGTCCTGAAGGTACAAGCAAGTTACATGCTGAAGTGGCCAAATGCCCATGGTCTCCACTCCTGCTACACTGCTTTCTCTCTCCCTGTATCTATGACCTCGTGGGAAGTTCTCTATGATCAGTAGAGATCACACTAGAAAAGACTAGAACCTTGTTTACAGATGTTTCTGCAGGATATGTAGGCATCACCAGAAAGCGAGCAGCTGTGGCACCATGCCCCTTTCTGGGACAGCCATTAAGGACAGTAGTGAAGGGAAATCTTCTCAATGGGAAGAAATGGCCAGATGTGCAATTGTATACCAGATCCTGGGCTGTAGCCTGTGGGTTGGCTGGATGGTCAGGGACTTAGAATAAGATTGAACTATTGGTGACGAAGGTATCTGGGAAAGGAGTATGAGCATAGACCTCTCTGCATGGGGAAAGAATATGAATATATTTATGTCCCATATGAATGCTCAGCAAAGGCTTAAGTGAGCAGAGGAGGACTTTAATAATCAAGAAAATAGGATGACCCATTTTGTGGATACCACTCAGCTTCTTTCCCCAGCCACCCCTGTCATCCTTCAGTAGGCTCATGAATAATTTGGCTATGGTGTCAGTGATGAAGGTTTTCCAAGGGCTCAGCCACATGAACTACTCTCACCAAGGCTGACTTGGTTACAGCACCATAATAAAGGGATAGCATTTTGTCCTCACCGAAATGCATATTTTCTCTGGATATAAATTTGCCTTCCCTGTATGCAATGCTTCTGCCAACACTACCACTCATGGACTTACGGAATGTCTTATCCACCATCATGGTAACACTCTGGGTGAAACCATTCAGATCCGCACTGTTTTCACTGGAAGGTTAATAAATCTGCATGTAAGTTTTTGTTGTGTTTCACATGTTTATCTTGTTTCAAGTATGGTAGGTTGTATTTTTCTAGAAAGTTGTCCATTTTATTTAATTTGCCTTTTTAGGGTACAGCAAATTCTTACTTTCTTTTTTTTAGTTCTGTTTTTTTTCCTACTATTTCTTTTTTTGCAATCAGTTTTATCAAGGACTTATTAATTTTATTCATTTTCTCAAAGTACAAGCCAATTGTGTTTACATGTTTAGTTTCTATTTGGTTAATTTGTTCTTTTACTTACAATTTCCCTTTTTTCCATCGTATGTGAAAAAAATGGAAAGATATACCATGCTCATAGATTGGAGACAATATTGCAATACCATCCCAATCAAAACTCCAGCAGACTTCTTTATTTTGTGAAAGTTGATGACCTGATTATATACTTTATGTGTTGTGTATGAACAAAGCAAGAGAAATGACACACTGGGGAAAAGTATTTGCCTTTATATAGCAGACAAGTAATTTGTTTTCTTAATCATTTCAAATCAATAAGAAAAAGACCAACAAACCAATATTAAAACATGCAAAGGACTTGAATAGTCAGATCACAGATGAGAAGAGTTAAATGAGTCTTAAACATAGGAATGATGTTCAAAATCATTTAAAATATTTAAACTGAAACTTAATGAAGTAAACATGTACAAAATTACAATAAAAATGGACATACCCATAACCATGAAGAAAATTTTAGTATTAAAGAAGCCAATCAGACCAAAAGTTAGTAAAGATAAAGAACATTTGAATAGCATAATTAACAAGCTTGAATTAATGAATATATGTTGTAGGAGTTTGTACCCAATTAGGGATTATATAAACTTTTTACTGACATTGGAAAGTACTAGGCCACAAAGCCAACCCCAATGAATACCAAATAATCAATTTCGTACACATAAGATGATAGTCTCTAATAACTATTCAAAGATGAAAATCAATGCCAAAATATAGCCAAAAAGCCTTATTCCTTTGGAAATTAAACATACTCTGCTAAATAATTCAAGGGGTATATAAATCAATTGAAATCATGAAATATTTATAAGTGAATGATAAAGAGTGACTGTGTATCAATACCTGAGTGATGCTGCTAAAATGGTAATTAGAGGAAAATTTTGAACTTCAGGGGCATCCATTAGAAAAGAAAAAAGACTGGCCATTATTGAACTAAGTTTGCAAATCAAAATGCTGTAAAAAGAAGTAATCCCAATGAAAGCAGAGCAAAGTAAATAAAGCAGAAACAAACATGTATCAATGAAAGATGAAGCAAAGAAACCATGATGATAGTCAATCCATGAGCTATTTCCTCAAAAAGGGCCAGATGTAACTATACGTCTGGCAAGACCAAACAAGTGAAAGAAAGAAAGTACCAGTAAATAATATTAGAAGGACTATATCATCAGATACAGTCATAATTTTAAAATTATAAAAGAAAACCTTGACAAAACAGTTTGTCATTACATTAGAAAAATTAAATGAAATATATAATTTTCTAGAGTATATGTAAAGTACCAAACTTGCCACTGAAATGAAAAAAAGAAGGCATATGAGTAATCCCATTAGCATTACAGAAATTACAATTGAAAACCTCTCATGTTCTCCTTCAAATTGTACTAGGCTTATGGTGTTTCAAGTGGGCTTTAGAAAACTTTCAAATAACAAATACTAATGGCTTCAATTTCATTGCTACATAGAATACATAGAGAAGGAAAAGTAATCAGCTTAAATCATGAGGCTAACATAAGCTTCATGCCCAAACCTGAGACAGACAGAATACTAATTTTAATTACAGTAATGTGGGGGAAAAAATCACAAATATGTTAATACAGGATACACTTCAGAAATGGTTGAATTGAGAAAATTTTCCAGTGGAACTTACAGCACTAAAATATGACAAGTAAATATGTGATTATTTCAAGTTCTTGAAAATGTGCAATAAAAAGCCATTTATGATCAAATATTTATCATAATAGTAGATTTTCATCATGATTATATTATGTATTGAGATTAATATTATATAATAAAAATTAAAACAAATATTATACTTAATGGTTAAATTTCAGAAGCGTTTTCTTTATATTCAGGACAAAACAAGAATATCTGCTATGTTGATTTTCCTTCAACAATATCCTAGAGATCTTACCAAATGCAATAAGAAAAGAAAAAGGTAGATTAAAAAATAAAGTGTCTGTTCATATCCTTGGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAACCCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTCTGCTGTGCAGAAGCTCTTTAATTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTCCTTCTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAGTCCATCTTGAACTAATTTTTGTATAAGGTGTAAGGAAGGGATCCACTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAATTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTGTATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAACGTGATGGCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGCAGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTCAGCAGTATGGCCATTTGGATGATGTTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTTTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGAATGCTTGTGACTTTTGCACATCGATTTTGTATCCTGAGACTTTGCTGAATACTGGGGCTTGTTGTGGGGTGGGGGGAGGGGAGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAATAAAAAAATAAAACATTTGCTATTTATAGACAAGTTTATTATTATTATTATTTTACATAAAAACCCAAAATAATCTGAAGACAACACATTTAGAACTATTAACTGAGTTTGGGTTATCAGTTTCTGGATTCAAGCTCAACATATAAAAATCAATGGTGTTTCAACACATCACCAGCAATTAGTAATTTAATCTTTATCCATTTTCTAATGACCTTGCATTCTTTATGTGATCAGAGTTCTGATCTATGTTATTTTTCTTCTTGCTGAAAAATATATTTTAACATTTCTTGCAAGGCAGGTCTACTGGTGACAAATTCCCTCAATTTTTGTTTGTCTGAGAAAGTCTTTATTTCGCCTTCATTTATAAATAATAAGTAAACTAGGTACAGAATTCTATGTTGGTGGGGTTTTTTTCCTTTAAACATTTTAAGTATTTTACTTCAGACTCTTCTCACTTGCATGTTTTCTGAGGAGACGTCTGATGTAATTCTTATCCTTGTTGATCCATAGGTGCTTGTTGCTGTGTTTTGTCCTTTGACTTCTTTTCAAGATTTCCTCTTTGTCTTTAGTTTTCTGCCATTTGAAAATGATACGCCTACATATCAGTTTTTTGGTATTTCTCCTGCTTGGTGTTCTCTGAACTTTTTGGATCTATGGTTTAGTGTCCATTTTTAGTTTTGGAAAATTCTCAGTCATTACTACTTCAAATATTCTCTTTCTTCTCTCTCTGGTGATGTTTCTCCTTTTGTAATCGTTTAATGGTTTTTGGATATTTTGTTCTATCTTTTTCAGTGGTTCTCTTTGCATTTTAGTTCTGGAAGCTTCTTTTGGAATTTCCTCCAATTCACTGGTTCTGTTCTTGGCCATTTCCACTCTGTTGATAAGCCTGTCAAAGACATACTTCATCTCTGTTGTAGAGTTTCTAACTCCTAGATTTATTTTTGATTCATGGAGTTTCCATATTTCTGATTACATCAGTTATCTGTTCTTGCATGGTGGCTGCTTTTTCCATTAGAGCCATCACATTTTAATCATAGTTGTTTAAATTTCTAGTCTGATAATTCCAAATTCCCTGCCATATCTGAGTCTGGTTCTGATACTTTCCTCTGTCTTTTCAAACTATATTTTCTTTCTCTTTTCATGTGCCACATAATTTTTTTCGTTGAAAGCCAGACATCATGTGGTAGGTAAAAAGAACTGAAGTAAATAGGCCTTTGTGTGAGGCTTTATGTTTATCTGGTTAGGGGTTAGGCTATGTTTATAGTATGCTATAGCCGCAGAACCTAGCAGAACCCCTGGAGGTAAAACTCATGAAAATATGAGTTCTCTTCCCCCAAGAATGGGCATCCCTTGAGTTTTTATCTCTCAAGTTTGTCCATAGCAACTTTAACTCTGAGATTGTCGTCTAGCAACTCATCAATGACAGTTTAGTTTTCCTACCCTGGTACTCACTGTAGTGTTGGTTTCTGCTCCAGGGTTTTTGCTTTTAGGATATACGTGGGCTGAAAGTGAAGGGTTGGAAAAGTATATTATATGCAAGGAGTAATCAAAAGAGAGCAGGAGTGGCTATATTTATAGCAGAAAAAGTAAGCTAAGTTAAAAACTTTTATATAAGGCCAAAAAGGTCATTACATAATGATAAGGTGGTCAATTCCTAAAGAGGATATAGTAATTGTAAACGTCTCTACACCTAACATTGGAGCACCTAAATATGTAAAACAAATATTAACAGAATTAAAGGGAAATATAGATAGCAACACAGCAATAGGGAGAACAATACCCCTGCTTACAACAATGATCATCAAGACAGGAAACAGTAGACTTAAAACAACATTATGGACGACATTTACCTGACAGACATATACAGAATATTTTGTATATTTAAAAGCAGCAGAATACACATTGTTTTCAAACACACTTAGAAAATTTTCCAGGATAGTTGACATGTTATGCCACAAAACAAGTCTTAACAAATATAAGAAGGCTGTAATTATAGCAAGTATCTTTTCTGACCACAATGGCATAAAACTAGAAATCAAAAACAGGAGGAAAATTGGAAAATTAACATTTGTATCAAAGTGAAATAACATTTCTGAACAAAATTAAACAAAACTTCTGGTAAAAATCTAAAAAGAAATAAAAAAAGATCTTGAGACAAACTAAAATGGAAACACAACAAATCAAAACGTGTAAGATGTGCCAAAGGCAGTCTGAAAGGGAAGTATGTAATGATAAACAACTACATTATGAAAAAGAAAGATATGTAACAAACAATCTACACTTCAAGGAAATAGAAAAAGGAGAACAAACTAAACCCAAAAAGTTAGCAGAAGGAAGACAATAATAAAATTCAGAGCAGAAATAAATGAAATTGAGTAAAATCTAATGGAAAGGATTAATGAAACTAAGACTTGTTTTTAAAAAACAAACAGAACCAACAAACCTTTAGTTATATTAACTAAGAACAAAATGAGGAAGGAACAAATAAATAAAATTATAAAATAAAGAGGAATCATTAGAACTGATACCACAGAAATATAAAGGATCATAAGAGACTGCTATGAACAATTATATGCCAACAAATTAAATAGGCTGGAAGAAATGGATAATTTCTAGAAACAAACAACCTTACCAAGACTGAATTATGAGGAAATATAAAATCTGAGCAGACAAATAATGAGTAAGGAGATTCAATTTGCAATGAAAATCCTCCCCAGAAAGAATAGGACTGGATGGCTCCACTGGTGAATTCTCCAAACATTTAAAAAATTAATGCCAATCCTCAAACTCTTCCAAAAGCTGAAGAGGAGAGAATACTGTCAAACTTATTTTAAGTCCAGCATTTCCCCAATACTAAAGCCAGACAAGTCCACCAACAAAAAAAAAAAAAAAAGAAGAAAAAAGAAAATTAGACCAATATCCCCGATGGACATAGTTGCAGATATTTTCAACAAAACAATAGCAAACCAAATTCCAAAAAGTCCAATGCCACGGCCAAGTGGGATTTATCCCAGGAAAGCAAGGATGTTTCAACATATGAAAATCAATAAAGGTAATACATTACGTTAACAGAATAAAGAACAAAATGCATATGATCATCTCAATAGATACAGAAAAAAGCATTTGACAAAACTTAACATCCCTTCATGTATACCTCAACATAATGAAGTCCTTATATGACGGGCCCACAGCTAGTATCATACTCAGTGGTGATCAGGAACAAGACAATGATGTTTTTTGCTACTTCTATTCAATATAGTATTGGAAGTCTTACCTAGAGCAATTGGGTAAGACAAAGAAAAAAATGCATCCAAATTAGGAAGGAAGAAGTTAAATTGTCTGTGTTTGAAGATGACATAGTCTTGCTTATAGAAAACCTTAAAGGCTCCACTAGAAAAACTCTTAAAACTAATAAAAATTTAGTAAATTTGCAAGATACAAAATCACCATACAAAAAGCAGTAGTATTACTCAAACAACAGACAATACGAAAAAGAAAATAAAGAAAATAATCCCATTTACAATAGCATCAAAAAATACTTCGTGATGAATTTATTCAAGGAGGTGAGAGATCTCTATATGGAAAACTATAAAACATTGATGAGACAAATTGAAGAGGACACAAATAAATGAAAATAAATCCTATGTTCATGGATTAGAAAGCTTAATATTGTTAAAATATCCATAACACCCAAAACTATGTACATATTCAGTGCAATCCGTATCGAAATTTCAATGACATTTTTCACAGAAAAAGACAATTCTAAAATTCATATGGAATCACAAAAGACCTGATATAGCCAAGATGAGAAAAATAAGCTGGAGGCATCACACTACTCAATTTCAAAATACTTTCAAAACTATAGTAATTAAAGCAGTATGGTACTGGCATAAAAACAGACATATAGAACAATGAAGCACAACAGATATCCCAGAAATTAATTCATACATTTATGATCAATTGATCTTCAACAAAAGTGCCAAGGATGTACAATTGGAAAGAATGGCGTTTTCAATGAAAGATGTTGAGAAAACTGAATAATCACATACAGAAGAATATCATTGGATTCTTATCTCATACCATATACACAAATCAACTAAAAATTGATTAAAGACTTAAAGGCAAGACCTGAAACTGTAAAACTACTAGAAGAAAACCTAGGGGAAAACTTCTTGAGATTGATCTGGGTAACGATTTTTTGGATATGACCTCAAAACTACAGGCAACCCAAGCAAAAACGAACAAGTAAGATTCCATCAAACAAGTTCTTTGCTTGCTCTAGAAGTATTCACATTTTCTACTTCTTTTTGAGTTAGTTTTGGTAATTTGTGTCTTTCTAGAAATTTGATCAGAGGATGTTTTGTCAGAAGTCAGCCTATTCTCAGGAGGGGGTTGTATATGGTTCAGGCTGAGAGTGGGCCAGAGCTCATTCAGGGGCCTGGAGGAAGAAGAGATGCTTAACAGAAGTTTGATTAGAAGCATTTCGTTCTGACTGATCTTTGTGGACAAGCAGTACAGTGAATCATTTATGAAGCAAAGAGTAGGAATTTCAAAGGCCTATTTCTGACCCTTTCATAGATAAACAAGGGGACATCTATGAGTCTTATCAAAATCATTTGGGAAAGGGTCGTTCTTTGCAGTAAGCCCTTTTACAGAACACTAAGGTTGGAGGGATTCTTTTTTTAAAAAATTAAATTTTATTTTAGATTCGGGGGTAAATGTGATTATTTTCTGTATGGGAATACTGCATACCGGTAGGGATTAGGCTTCTAGTGTACCCATTACCCAAATAGTGAACATTATGCCCAATAGGTAATTTTTCAACACTTGTTTCCCCACCCTCCCCCTTTTTGGAGTCCCCAGTGTCTATTATTTCCATCTTTAAGTCCATGTGTACCCATTTTTTAGCTTCTACTTACGAGTGAGAATATGTAGTATTTGGTTTTCTGTTTCTGAGTTAGTTCACTTAGGATAATGACTTCCAGCTGCATCCATGTTGTTGCAAAGGACACAGCTGTATTCTTTTTTATGGTTGCATAGTATTCCTTGGTGTGTATATGCCACATTTTCTTTTTCAGGCAACCACTGATAGACATTTAGGTTGGTTCCATGACTTGCTATTGTGAATAGTGCTTCTATGAACATAGAAATCCTGAACAGATTAATAACAAGTAGTGAAATTGAATCAGTAATTTAAAAACTTCCAAAAAACAAAAGCTCAGTACCAGATAAATTAACAGCCAAACTTTACCAGATGCACAAAGCAGAGCTAGTACCAACCTTACTGAAACTATTCCAAAAAATAGAGGAGGAGGAATCCTTCCTAACTCTTTCTACTAAACTTGTATCACCCTGATACCAAAATCTGGCAAGGACAAAACTAAAAAAGAAAACTACAGGCCAATATCCCTGATGAACAGAGATGCAAAAATTCTCAGCAAAATACTAGCAAACCAAATGCAATAGCACATGAAAAAGATAATTCATTATAATCGATTGGGTTTTATTCCAGGGATACAAGGATGGATCAACATTTGCAAATCGAAAAATGTGATTCTTCGCATAAACAGAACTAAAAACAAAAATCATATGATCATCTCAATAGATGCAGAAAAGGCATTCAATAAAATCCAACACCCTAATACCAGCCTGAGCAACATAGAAAGATCCCTGTTCTACCTAAAATAAAAATAACCAGGCATGGTGGCACACATTAGTGGTCCCAACTACTGAGGAGGCTGAGGCAGGAGGATTGCCTGAATCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGTGCCACTGCACTACAGCCTGGATTCCAAAGCAAGACCTTATCTCAAAAAAAAAAAAAAATCCAACATCTCTTCATGATTAAAATCCTCAGCAAACTAGGCATCAAAGGAACATGCTTCAAAATAATAAGAGTCATCTATGACAAACCTACAGCTAACATCATACTAAATGGGGAAAAGTTGGAAGCATTCACCCTAAGAACTGGAACAAGACAAGGATGTCCACCCTCATCACTCCTGTTTAACATAGCATTGGAAGTCATACCAGAACGACGAGGCAAGATAAATAAAAGGCATCCAAATTGGAAAAGAGAAAGTCATGTTGATGACATGATCTTATATCTAGAAAACCCTACAGACTTCTCCAAAAGACTCCTAGACTTGACAAATGATTTCAGTAAAGTTTCAGGATAGACAAGCAAGGTAAAAATAATTAGGAAGGATTTCTTAAACGTCATTGTTTTTCAGGATCATGGGACTCAGGAAAATTCAACATTGTTGCATTGTACAAAAAAAAGCAGAAAGGCAGATCCTTGGGAAAACATAGACTATTCCCAAAATGGTTCCAGGACAATTGGTTTTAGGTATAAAATAATAATAATAACCATGCCACACCATAAATAAAAACCAATTCCAGAAGGATTACAAATTTAAATGAAAGTTATATTTTCAGCAATAGGGCAAACTAGATTGTCTGGAAAATCTCTCATTGTAAATCTCCTAAAAATGATGGATAAATTTTTTTTAAAGGGAAGATAAAACTTCAGAATAAATAAGAGACTGCACCAATTTATAGTTGACCCTTGAACGACATGGGTTTGAACTGGCACAGGTCCACTTACACGTGGATGTTTTTCAACCAAACAGAAATACAGCATTTGTGGAACGTGAAACCCTTGTATAGGGAGAGCAGACTTTTCTTATACGTGAGTTCCGTGGCAGGGGTGACTGCAGGAGTTGAGTATGTGCAGATTTGGGCATGTGCTTGGGCCCTGGAACCAATCCCCTGCATATACTGAGAGATGACTATATATATTAAATATTAATACAAGTACCTTAAATATGTAATTATAATTCTTATGCAACATATATTTATAATATTGGTATATGCATGTATTTAAGATATTTACATGCAATTTCATAACTATATATTAAATAAGAATGCATATCTATGTCTATATATCTATTAGAACTAACTGAAAGAAGAGACAGATTACCTACAAAGGAATAAAGTATAGAAGCAGTATGAAACCAGTAGAAGTTAGAGTAAGTTCTGGGAGAAGATAACTGGCAACTTAGACTTGTATACTCCCTGAAACTTTCTTTCAAGCCATGTGGGCATGACCTTTATCCTTTGGAAAGATTTTTAAATACCAGGTTAATTTCTTTACTATTTTATTACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCCGTCGCCCAGGCCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTGAGACTACAGGCGCCCGCCACCACACCCAGGTAATTTTTGTGTGTGTGTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTACTATTTTATTTCTAAAATAATTTCAACTTTTATTTTAGGTTCAGGGGGGTACATGTGCAGGTTTTGTTACATGGGTATATTGTGTTGATGCTGAGGTTTGACGTATGAATAGTCCCATCATCCAAGTAGTGAGCATAGTGCCCAATAGGTAGTTTTTCAGCTCTTGGTCCCCTTCTTCTCACCCCCTTCTAGTATCCCTAGTGTCTTTTGTTCTCAACTTCATGTTCATGTGTACCCCATGTTTAGCTTCTATGTATAAGTGAGAACATGTGGTATTTGGTTTTCCATTCTTGCACAAATTTGCTTAGGATAATAGCCTCCAGCTGCATCTGTGTTGCTGCAAAGGACCTGACTTCATTCTTTTTATAGCTCTGTAGTATTCCATTTTATATATATATATATATACACACACACAACATTTTCTTTATCCAGTCTACCATTGATGGGCATCTAGGTTGATTCCATGTCTTTGCTATTGTGAATAGTGCTGTAATGAACATACTGGCGCATGTGTCTTTTTGGTAGAATGATTTATTTTTTCTTTGGTTATATACCCAGTAGTGGGATTGCTGAGTGGAATAGTAGTTCTAAATTCTTTGAGAAATCTCCAAACTGCTTTCCGTAGTTGCTGAACTAATTTACATTCCCACCAACAGTGTATGAGTGTTTCCTTTTCTCTGCAGCCTTGCTGACATTTCTCTGATGATTGGTGATGTTGAGCATTTTTTCATGTTTGTTGGCTGCCTGTATGTCTTCTTTTGAGAAATGTCTGTTCATATCCTTTGCCCCTCTTTTAATGAGGTTATTTGTTTTTTCCTTGTTGGTTTGTTTAAGTTCCTTATAGATTCTAGGTATTAGACCTTTGTCTGATGTATAGTTTGTGAATATTTTCTCCCATTCTGTAGGTTGTCTGCTCACTTGTTGATAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTTAGTCTCACTTGTCAATGTTTTTGTTGCAATTGCTTTTGAAGACTTAGCCAAAATTTATTTGCCAAGGCCATTGCCAAAATGGCATTTCCTAGGTTTCCTTCTAGGATTTTTATAATTTGAGGTCTTACATTTAAATCTTTAATCCATCTTGAGTTAATTTTTGTAGTTGGTGAAAGGTAGGGGTCCAATTTCATTCTTCTGCATATGGCTAGCCAGTTATCCTAGCACCATTTATTGAATAGAGAGTCCTTTCCCCATTGCTTATTTTTATTGACTTTGTTGAAGATCAGATGGATACAGGTCTTATTTTAGAACTATTCACATTTTCCGCTTACTTTTGAGTCAGTTTTAGTAATTTGTGTTTCGCTAGCAATTGTTCATCTAGTTGTGTAATCTATTGGCATAAAGGTGATGATAGTATTCTTTGATAATTATTTTCATTTCTGCAAGATCTGAAAGAGAAGAGATGTCTTCTCTTTCACTCGTAATTTTGCTAACTTGTGTCTTCTCTGCTTCATTACCAGTCTGTGCAAAGGTTTAGCAATTTTTAAAAAATTTCATTTTATTCACATTCACTATTTTTGTTTTGTCTGTTTAATGGATTTCCTCTCTAATCTTTATTATTTCTTTTCTCCTGCTTGTTTAAGATTTAGTTTACTCTTCCTTTTCTAGTAAATTAAGATGAAACCTTACTTTTTTCTTTTCTAAAAAAGTCATTTAAAAACCACGAAAATTTCCCTAAGCACTGCTGTATCCCATAAATATTGATATACTGTAATTTCATTTTATTTGATACTAATATAGACACTCCAGTTTTCTTAGGGTTACTATTTGTATTGTTTATCTATTTCCATTCTATTACTTTAAACCTATTTGTGTTCTTAGATGTTCTTAGAAAAGGTGTCTCTTAAGTCTTATTATTTTTACCCAATTTGACATTCTCTAAAACTATTATTGAAATGTTCAATCTATTTACATTTGGTGTAATTATTTATGTGATTTAATGTATATCTTGTTTTGCTATTTAATTTTATATGTTCCATATCTTTTTAATTCATACATTGCTTTTAACTGTCTTTCGTGTTAGATACTTCTATTGTACTGTTTAATTCTTTTCTTTTTTTTTTTTACTACATTTTAAGGGATTTTTTATGGTTTATTTGTGGATTACAATACGTATCTTATCACAATTTGTGAATTACAATATGTATCTTAATTTATCACAATCTGCTTCAGATTAATACTAACATTTTTCCAGTAAAATATAGATATCCAATAGAACTCTATTTCTCCCCTTCTTTGTTCTATTTTACTGTTTATATGAAATTTACCTATTATTATAATCTATAAGTATAGGTTAAAATCCAACAATTCTAATTTTTCTCTGCAAAGTGTTTAAAATAAGAGAAGAATATAAGAAATAATATACTTAAGCAGATTTTATATTTACCTGTGTAATTATTTTTACCAGTTTTTTTTATATATACAGATTCAAGTAACTGGTGTCATTTCTCTTCCGTCTTTGTTTATCTGGTAATGTCTTTATTTTACTTTTTTTTTTGAAGGATAGTTTTGTTGAATACTTAATACTTGGTTGACTTTTCTTTTTCTTTTAGCACTTTGCTTTCTAGCTTCTGATTGTTTCTGATGGAAAATCTCATCACAATAAAATGTTAATTTTATTGTGGTTCCTTGTACTTCATGAGTCATTTTTCTTTTGCTGCTTTCAAAATTTTCTCTTTCAACAATTTGATTATAATTTGTTAAGGTGTGAATCTCTTTGAATTTATTTTAGTTGGAGTTTGTTGAACTTCTTGGAAGTGTAAATTAGTTTAAAAAATCATGTGTGGGATATTTTCAGCCACTGTTTCTTCAAATATTTTTTCTGCCTTTTTCTCTCTCCTTCTCTGGGAGCTGTGTTCAATTTTTTAAAAAAATTCTCTCTGTTCTTCAGATTGGATGGTCTATATTGATCTGTCCACAAGTTTGCTTATCTCTTCTGCCAGCTAAAGTCTGCTACTGAAACTCTTCAGTGAAATTTTCACTTCAATGACAGCACTTTTCAACACAATAATTTTTATTTTGTTACGTTTTATAATTTATATATAGTTATTGATAGTTTTAATTTGATAAGCCATGGTCATCATACTTTTGTTTTATTCTTAAACACCGTTTCTTCCGTTCTTTGAACATATTTATAATAGTTGGTTTATTATCGGTGTAGGGTACCTCAGAAACAATTTCTATTGACTGCTTTTTCTCCTGTATATGGGTAGCACTTTCCTGGGTTTTTTGCTTGTCTCCTAATTTTTTCTTGAAAACCAGTTTAGATCATATATTACAACAACTCTAGATTCCGATTCCACTCTCCCCTTCCCCTAGGGTTGTTGTTTCTTTTTGTAAATTTTTTGTTAATTTACTTACTGACCCTTCCGTACCAATTCTTTAGAATGGTTTCTTCCAAAGTATGCATCCAAAGTTGTTTTTCCTCATTAAAAAAAAATCTTGTTTTCAATTTTTAAGGCTGGATTCCTAGGGTTGCCACTTGGTCAGCATCATGTAGTGATCAGCCAATTACTGGTCAGCGTCTATGCTTAAACGTCTTGATCCACAAGGCTAATGGTTCCATGTCCGAGGTGGGAAATTCACTGAATGTTCAGGCAGTTTGTAGGTTTTCTCTGGTCTCTGCTTTCTGCCAGCTATTCCTGTTTCTCCTTTGAGCATTACATTCTGTTAGAGAGGAGAGGCATCTTATTCCATGTAGCGCTGCTATAGTAGAATGCCTGAGACTGAACAATTTGTAAGGAACAGAAATTTATTTCTTACAGTTCTGTTGACTGGGAAGTCTAAGATCAAAGTGCTGGCACCTGGTGGAAGTCTAGTCTCTGCTTCAAAGATAGTGCCTTGAATGCTGCATCCTCCTGAGGGGTGGAACCCTGTGTTATCACATGACGGAGGAGCAGAAGAGACCACATCCACACCTGCAAGCCCTTCATACAGCAGCTCTAACCTTGACCTAAACACCTCCCGTTAGGCCCCACCTCCCAACCTCACTGCTTTGGAGATTAAGTTTCTAACACATGCATTTTGGGGGATACATTTAGACCATAGCCAGGGTCCTCTCCAGTCTGGTCTGGTACATTTCTGGATGTCAATAAATATACTTTGAAAACATAATATGTAATATTTCATAATATATTATTTTAAAAATATCTCATTTGTACCAATATTTAATCTTTTAAATCATGTTCAAGTGGACTTTCTTTTTCTTAAAAGTTTATTCATATTTGCATTTTTTAAAAGGCTGGGTTCTTATAAATAGACTGATAATACAAAAATACCAATATATTGTGGTCAATCTTAGAAACCCACAACTCCAATAAAAGTCTTTTAGACTTATCTTCCTCTCCCCTGTGTCCACAAAGTAGAGAATGCAATCCTTCAATTTTCAGGAGCTCATAGCTTATATCTGTTTTTGGCACCCCTTCCCCAATTCTTCCCAGTATTATATTTCCCTGTGTCTTAATCACCTACTTGCACTATAAACCTCTTAGAGCAGAGGACTGCCGCTTTCTTCCATCTCTAAGCTTGCCCTGTCCCCTGCACCAAGTCTCACACATAGTAGGTACTCAGAAGGTGTTAAGTGGGATTTTAGCTGGCTGAAAAAGGAGCACTCGCTCTTGGCTTCCCATTCCTTATATGGGCCACGAAGCCCCTGTCTCCAAGGCCCTTTGTGTCTGTGACATTCTCGGGCTTATGCTTCTTGTGAACATTTGTGGGATATTAGTCATCTTATGTAGAACAGGATATATCTGTCACTTCTCCTCTGTGAATCCCTCCTTTCAACAAGATTTATTTTAAGAACTGTGTGAAAAGAGAAATTTTCATAGGCAACCCTGTGAAAACGCAGTCATTTGTCAACATGTGGAATTAAGTGCCCTGAGTTCCCATCCAACTGTCCTGGCCCTGCCCACCAGGGGGCCCCTCTAAGGAGGCAGCATCCAGGCAAGGGTCTGAGTTAGCCACAAAGGTGCATCTTAGGGCCCCTCCTGTTTCCTTGCTCTCCAGTGCTCCTGGCATGGTGAGTTCTCCGTTCTCTTGAACAGTGCAGCTGAGGAGTACACGTGAGACCTCATTGAATCCTCAAGGCTGCCTTAGGAGATCAAAATGACCCTGCTACAGAAAGGGAAACTGAGAGCACACAGCTAGAATGTAGTGGAGCTGGACTTTGAGCTGAGGCCCTTTGCCTCCACATCCAAGGCTGTGTCCGTTAGCCTGAGCTGCTGTGAGCAGCAGGGGCCACTGGCTTTCTCTCAAAACAACAAGTTGGTGATCTGCAAGATTTCATTGAGTTTGGAGCTGACGGAGCCAGATAGCTTTTGGGCAAGAACCAGAGGTCTTTGAGGAGATGCAGGAGGGAAGAGGTTATCACCCAAACCCCAGCTGGGGGCAAGGCTCCCTGACCCCTGTCCTGCCAAGGGAGGGAGTGTGGCATGTGGCCACTCCATGGGGCAGTGGTGCCCCATTGTCTTTGGCTATTGGCAATCCCTGCATAATGGATGGCAACCCTGGGCCTCAGTTTCACTGTCTCTGAACTGAGGTGGGTGAGTTCAATAAGCCCTGCACTTTCCCTGAGATCAGAAGAGGGAAGGCTCTCTTTTCAAGGCTGGAGTTAGCAGCAAAAGAGTAGAGCGGCTTCCTCCTCCGCGCTCTGGGATGGCACATGTTGGGTGAGAAATGTTGGGGGCTTGATTGGGAGCTGCCATGCTCATTGCACACGGCTGCATGCATCAGCTGCGAGGATTCACACCACATCCTCCAGACACCCCCACTGGGAGTTTCTATAGCAACTTTCTGAGAGGAATTTCCAGGGCTTGCAGATTCTGTCATAGTAACCCAGTGAGGGAAGAAAGCTCAGGGTGTGTGAGTAGGGGGCAAAGGATCCGTGTGTGCTGAGGTCCCTGTGAGGCCAGGAGGGCAGAGTGGGTGGGCTCTCGGAACAGCCACAGAGCTGAGCAGTCAGGGGCTATGGTCCAGTCTTCTTCCAGCTCCTTAACAACAGGCAGGTCACAAGTCATCCCTGAAGGTCTCACTTTAGATCATAAAATGTACCTCAAAGATGGTCATGAAGATTAAATGAAAGAGACCTGCAGACTTCTCATTTATCTTTCCTGAGGATTAGGGCAGGACAAGCTGGGAGTGTGATTCCAGTGGCGGGCTGCCTGTGGGTGTCTGTAGAATAGAAATGAAATTATGCAAGCAGATGGCTTGATGAAGAGACAAAAATATGAATATAAAACACTATAGCCATGGAGATGCTAATTTATTTTTACTTTTAATAATGACACAACTTGGGATATCAAAGGTGTCTTCTTGCTTTTAGATATATTCAGCCCTCAAAATAAAATCTTTCAACAGAACACAGCTCCAAATCACACAAAAACATTCTGAATTGGAGGATCAGCATGCCTGCCTGTTAATATGCAAGCACTGAGCATGAGCAGTTTATCCCAACAGTGAATCCACACTGCAGATATACTACACACACAGCATTCTAGGGAATGGAGAAATGAAATGCACAAAGAGCTCTGCCCTTGAATTGGTAGTGACTAGTGAAACAGTCCTTACAAATGTTATACAATTAATCAAGAAAAAAGGGGGGAGAAACAGCTCAGCATTAATCACTAGGTCAGCTTGTTCTCTGACCTGCTTCCTCATAGCTGTTTTCCGTCTGTTGCCCTAGAATCATGTAGATTCTAGATTATAGGTCCCTGTAACTGCTCTGTAGATAACAGCCTGGGCATTGTGAAACATTAAGTTTTCCATCTGAGATATTCTTTCAGGTCTTGCAAACCAATGAAACTACTGACTCAGCTTGTCCGAAGGGCCCCATGAGAAGATGACTCACCAAAGAATGCAGTTTCCCACATCTTAATGATTTCATCCCCTTTACCTGGCCAATCAGTGACCCAATTTTCCAGCCCCTTGCCCTCCACAATGATTCTTTTAAAAATCCCTGTCTAGACCTCCTTGGGGAGATGGATTTGAGGGTCCCTCCCATCTTCTCACTCAGCTATCCTATCAATCATCATTAAGCTCTTTCTCTGCTGCAAACCCTGCTGTCTCAGTGTATTGGTCTGCACATGCACAATGGACTAAGAAACCTGTTGGTCCTGTAACAGTAACAGGGGAGATGAGACAGATTAACCATTGCAGGGATAGCTAGATATATTTAAAGGAATATAGAAATGCCTCTGGTGGCAACATCCAGCTGGGTCTCCAGTGTAGCAGAGCTAAGGCTAAAGCCAGGCTCTGGGGGAGGGTGAATCACAGCAGAAACGTGAAAGTGCAGGAGGGTGCAGATGGGGGTGAAGCTGCAGGCTCATCCCATTCTGCTTATGCCCCTCAAAGCAATCACGAGTAAGCCCCTAACCTGCAGGCCTCGGGTGTTTTCTCTAGCAGACAGTAGAAATACCTCCTCTTTAAGCCCATATGGGGATAATTTACTTCAAGAAGTCATCTCTGTTCCTGGCATACAAAAAAGCACTTAACAGATTATAAGACAAACAATAAAAAAGTAAAAGCCATGCAAGTTGAAAATGAATTTAGAATCCTGCCTTACACTGTGTAGGGACAACAGTATCTGTGAGTGTGGGGGATGATTGGATGACTAGACCACTTTGGGACATTTTTCTAAAAATTCTCTGGTGAAACTTAATTTGTCCACTCACTCTCAGCCACACCATGCACTGCTCTGCCCTAGGACAGCCAGTGGAATGCACTTGGAGCCCTTCCTCAGGACCAATGTTGAGGCAAGCCTTCTTGCTCACAGTCAGGGGTGCTAAGTAAGTGATCCAAGCTTTGCAGAGAGATGTCTTTAGTGTTTTCAGCACAGTGTGGATCATTCATACTGCTAGGCATTAGGGAGGATACAAGAAGATGTGTTCTGCCTTCAGGGAGTTGGGATAGGATCAGAAAAGGAGTGTGTTGAACAGAGGAGCTGCAGAGCTCACATGATCCTGTGGGTGGGACAGACACCGTGGAGGAGGCCAGCCCTGTTGCTGTCCCACCCAGACTCCTTGGAATCCCATTGGTCAGCACTGGGCCTCTCCAAAGCTTACTTTTGTCCCTGATAGCAGGAACCTGTGATGCTTCTTCACATGACTTTCCCCAGGCTACTCTGCTCCTATATTCAGAGGACATCCCCCATGACAACCCTCAGCTTAGGAAGCTTGAAAGGGAGTCTACATGGGATGTTTCTGAGATATAATTTATACCCAGACTTTATCCACGGGGTGCATATCATGGCAGGCATAAGGATGACTGCAATTGGGGTTTGCAGTAGGGGAGAGAGATGGGGCTTATCTCTGAATGCAAAAGGAAACGGGGGAATTTATGGCCAGGGAGCATGGTAGGGATCAGAGGGTAGAAAATTACTAAGAGGTAATCAGGGCTAAGGAGGTTTTTTGTTGTTGTTGTTGTCATTGCTGTTTTTGTTTTGTTTTGTTTTTTTGCTAAAGTGACCTCACAGGATTCTTGCTGAAGCCAGGCCAAGGTGATCAGACATCACCTGAGGGATGGTGGAAGAGGAAGAACCTGATCAGATATCAAGGATGATCAGATATCGACGGTGGCATGTTCTGGCTAAACCAATTAAGAAGGATTCTTGCTAACACTGGACAATGCAAAGATGGACTCAGACATACACACGTCAGAGCCTAGTTGAGAAGAGAATTTAAGAAGCCTGGCTAGAGTTAGGTCACACTCTGAGATCAATCTGAGGCTACTTATTCTGGGACTTTGCTTGAAATTTTACCCTGTTCAGCCCCTTCTCATTCCTTGCCCTGCTTCCTCATCTTGGTTTCTTCTGGTGGCATTTCCACCACAAATAACTCATAGAAATCTTCACCTCAGAGTCTGCTCCTGAGGAATGCAACTTGAGACAGTTGGTATGGAAGTAGTCCTGGGAGCTCATCACCAATGACAGGAGCATGTGAATAGTTGTGGTTTATCTGGGGTAAATAGGGACAAGGTACAATTAGAAAAAGATGCAGTGGCTTGTGCAATAACTCTGGTGTGTAGGACATGTGGTGAAATAGTCACTAGAAGGATGTAAAATTGGTTGATGCTATGGATGTGTTGAGGAAATAACAAACTTAAGTGAGCCAATTACTGATTTAAGGCACAGTGGTAGGTCCAGTTGCAGCTGGCTGGATATGCTGTCTTTACAAGGGTATTCAATGTAGTTTCTAGTATGTGGCATGCAGCTTTTGATCTGGTAGATGCATTTTTTATTAGACTTTAGAGCAATTTTAGTTTCAAAGCAAAATTGAAGGGAAAACACAGAGGTTTCCCACATACTCCCTGCCCATCTATATATAACCTTCTCCACTATTAACATAACCCACCAGAGTGCCAATTGGAGTGAAATATAGAAGCCTCACATTCCTTTTAGTCCCTTTATCTTCTACTGTGTATAACATAGTTGTCTTAAATATTTTCTATAATAGATTTAAAACCACATAAGATAGTGTTATAGAGGGTGTTATAATTTTTGCTTTGGCTGTCAAACATAATTTAGAAAACTCAATAGGAGAAAGAAAATGTATTATATTTATCTATTTTTAAAATTCTTTCCACTGTTCTTTCTCCCTTTCTCATGTTCCCAGTTTCCTCCTTTTATCATTTCTTTCTGTTTAGAGAACTTGGTTTAGCCATCTAATATACTTCGGATATTTGTCCCCACCCAAGTCCCATGTTTAAATGTAATCCCCAATGTTAAAAGTGGGGCCTGGTGGGAAGTGTTTGTATCATGAGGACAGATCCCTCATGAATGACTTGGGCCATCCCCTTGATGATAGATGAGCTCTTGCTCTGAGTTCACATGAGATCTGGTTGTTTAAAAGTTTGTGGCACTCCCCTCAAATCTCTCTCCCTCCTGCTTTTGCCATGTGAAGTGCCTGCTCCCATTTTGCCTTCTGCCATGAGTAAAAGCTTCCCTCCTCAGAAGAATGTTCTAGTATTTTGTTTCCTATATAGCCTGCATGTGATCCAACTAAATCTTTTTGTCTTATAAATTACTGTATTAGCCTGTTTTCACACTGCTGTAAATAATGACCTGAGACTGGATAATTTATAAAGGAAAGAGGTTTAATTAACTCATAGTTCTGTATGTCTGGGAGGCCTCAGGAAACTTACAATCATGGTGGAAGGGGAAGGGGAAGCAAAGCATGTCTTACATGGCAGCAGAAGAGGTGGGGTACTGCCAAACACTTTTAAACCATCAGATCTCATGAGAACACACTCAGTATCACAAGAACAGCATGGGGGAAACCACCCCCATGATACAATCACCTCTCACCAGGTCCCTCCCTCAACACATGGGGATTACGATTCGAGATAAGATTTGAGTGGGGACACAGAGCCAAACTATATCAATTACCCAGTCTCAGGTATTCCTCTGTAGTGATGCAAGAACAGCTTAACAGAAAACTGGTACTGAGGGGTGGGGCATTGCTATAAAGATATCTGAAAATGTGAAAGCAACTTTGAAACTGGGTAATAGGTAGAGGACGGAAGAGTTTGGAGGGCTCAGAAGAAGACAGGAAGATGAGAGAGAATTTAGAACTTCTTAGAGACTGGCTAAATGGTTGCAACCAAGATGCTAATAGAATTATGAACAGTGAAGTCCAGGCTGCAAAGGTCTCAGATGGGAATAAGGAACTTACTGGAAAATGGAGCAAAGGTCATGCATATTATGCCTTAGCAAAGAGCTTGGCTGCATTCTGTTTACATCCTGGGGATCAGTGGAAGTTTGAACTTGAGAATGATGACCTAGGGTATCTGGTGGAAGAAATTTCTAAGCAGCACAGCATTCAAATGTGGCCTGGCTGCTTCTAACAACCTATGCTCAGATGTGGGAGCAAATGAATGACTTAAAATTGCAACTTATATTTAGAAGAGATGCAGAGTATAAAAGTTTGGAAAATCTGCAGCCTGGCCATGTGATAGAGGAAGAAAAAGCTTTTTTAGGACAGGAATTCAAACAGTCTGCAGAACAACACTTACTAGAGATATTTGAATAATCAAAAGGAGGCAAGTGGTAAGCGCTGACAGTCAAGACAATGGAAAAAAGTCCTGGTAGGCATTTAAGAAGTCTCTGGGGCAGCCCCTCCCATCATAGGCTCAGAGGCCTAGGAAGGAAGAATGATTTCATGGGCCAGGACCCCTACTGTCCGCACAGCCTTGGAGCACTGCTCCCTGAATCCTGGCTGCTTTGGCTCCAGCACCAGCTGTGGCTCAAGGAGGCCCAGGTATGGCTCAGGCTGCCATTTTGGAGAATGCAAGCCACAAGCCTTGGTGGCTTCCATGTGGTGTTAAGCCTGCAGGTGCACAGAGTGCAAGAGTGGTGGATTCTTGGAAGCCACCACCTAGATTTCAGAGGATGTATGGAAAAGCCTGAGTGGGCTGGGCATGGTGGCTCACACCTGTAATCCTAGCATTTTGGGAGGGCGAGGCCGATCGATCACGAGGTCAGGAGTTTGAGACCGGCCTGGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCATGGTGATGTGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCATGTGAACCTAGGAGGTGGAGATTTCAGTGAGCCGAGATCACGGCATTGCACTCCAGCCCAGGGGACAGTGCAGGACTCGGTAAAAAAAAAAAAACAATAAAAGCCTGTGTGTCCAAGCAGAAGCCTGCTATAGGGGTGGAGCCCTCACAGAGAACCTCTACTAGGGCAGTACGGAGGGGAAATGTGGGGTTGGAGGCCTCACACAGAATCCCCACTGCAGCATTGCCTAGTGGAGCTGTGAGAAGGGGACACCATGCTCCAGATCTGAGAATAGTAGATCCACTGACAGTTTGTACCTTGCACCTGGAAAAGCCACAGGCACTCAACAAGCTTTGAGAGCAACCTTGGGGACTGAAACCTGCAAAGCCACAAAAGTAGAGCTGCCCAAGACCTTGGGAGCCCACTCCTTGCACCAGTGTGCCCTGGAGGTGGCACTATTTTGGAGCTTTAAGATTTAATCACTGCCGTGATGGGTTTTGGACCTGCTTGGGGCCTGTAGCTCCTTTCTTTTGGCCAATTTCTCCCTTTTGGAGTGGGAATGTTTACCCAATGCCTATTTACACATTGTATCTTGGAAGTAAATAAATTGCCTTTGATTTTGTGGGCTCATATATGGAAGGGAATTGCCTCATCTCAGGTGAGACTTTGGACTTTAGACTTTTGAATTAGTGCCAGAATGAGTTAAGACTTTGGGGGACTGTTGGGAAGGCATAATTGCATTTTGCAAAGTGAGGACATGGGATTTGTGGAAAGGCCAGGAGTAGAATGATGTAGTTTGGATATTTGTCCCTGCCCAAATCTCATGTTGAAATGTAATCCCCAATGTTGGAGGTGGAGCCTGGTGGGAAGAAGTTTTTGGATCGTGGAGGCAGATCCCTCATGAATAGCTTGAGCCATCCCCTTGGTGATAAGTGAGCTCTCACTCTGAGTTCATATGAGATCTGGTCATTTAAAAGTGTGTGGCCCTCCCAACTCCCTCTCTCACTCCTGCTTTTGCCATGTGAAGTGCCTGCTCCCACTTTGCCTTCTGCCATGAGGCCTCCCCAGAAGCAGATGCCAGCACTGTGTTTCCTGTATATCCTGCATAAATGTGATCCAGTTAAACTGCTTTCTTATAAATTACCCAATCTCAGGTGTTACTTTACAGCAATGCAAGAATGGCCTAAGACAACATCCTTTTAGGGTAAGTTTACTTTTGAAAAATTATCTTAATTTTTCTTCATCTGAGAACATCTTGATTTTCCTCTTATATCAGAAAGCTATTTTCACTGGATATAGAATTCTGAATAAACTATTTCTTTTGTTTGTTTGTTTGTTTTTAGCACTTGAAAAATCTTTTACCATTTCTTTCTGGCCTCCAATATTTCTGATAAGAAATTGACAATAATTCAAATTGTTTTTCTCCTATGGGTAATGTGTTATTTCTCTCTGGCTGCTTTCAATATTTTTTTTCTTTCTTTTTAGTTTTTAGAAGTTTGGCTATGATGCATCTTGATGTGTACTTCTCTGCGTGTCTTGTTTAGGGCTGGCTCAAAGCTACAGTTTGGTTTGTTTGATCCTCCAGAGCTCATTTGAAATCTGATCCCCAGTGTTGCAGGTGGGGCCTAGTGGGGGACTCATGGGGGAAGATCCCTCATGAATGACTTGGTGCCATCCTTGTGGTAGTGAGTGAATTCTCACTCTATTAGTTCCCATGAGAGCTGGTTGTTAAAAGGAGCCTGGCCCCACCCTTTATCTCTTTCTCATTTACTCACTTACCATGTGATCTCTGCACATACAGCTCCCCTTTTTCTTTCACCAGGAATGGAAGCAGCCTGAGAGTCTCACCAGGAGCAGATGCTGATGGCATGCTTCTTCTACAGCCTGCAGAACCATGAGCCAAATAGATCCCTTTTTCTTTATAAATCACCAAGCCTTCCATATTTCTTTATGGCAACACAGACTAAGACATGTACCTTCTTGAATCCTTTGGTTTATGGAAATTCTCAGCCATAATTCTTTGTGTTTTCAGCTTTCTCATATTCCTGCTCTTCTTTCAGGACTGTGATGACACACTCTTAGATTTTTGTTATAGTCCCACAAGTCCATGAGGCTATACTCATTTTTTAATAGTCTGTTTTCTCTGTCATTCAGGTAATTTCCATTGTTCCACCTTCAAGTTCACTGATTCTTTCCTCTATCTACTTGTACTTGCTGTTGAGTCCATCCATTGATTTTTCTAAATTTTGTCTATTTTAGTTTTGTGTTCTAAAATTTCCATTTGGTTTTCCTTTCTATCTTTTACTTTTTTGCTAAGGCTTTCTAATTCTTTTTTCTTTTGTCCCATTGTATTGTAATTGCTCAGTGAAGAATATTTATTATGCCTGCATTAAAACTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTGTGTCATCCAGGCTGGAATGCAAATGGTGCAATCTTGGCTCACTGTAACCTCCGCCTCCTGGATTCAAGTGATTATCCTGCCTCAGCTTCCCTAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCTTCTTGGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTAATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCATGCCCAGCCTCTGCATTAAAATTTTGTCAGATAATCCTAACATCTCTGTCATCCAACTGTTGGTATTTACTGATTTTTTAAAACTCAAGTTTATGTTTTCCTGATTCTTGCATATAACTAGGGACTATTTTTATTGAAAACTGGATATGTGCAGTATTATGATAGTCTTGGTATTATTTAGGTCTTCTCTTTCAGATGGTTGCTTCTGACATCACTCTGGTGGAGGAAGTTAGACCTTTGCCTTGCAGCAGCTGGTGGATGTAGAAGTCCAGGTCCCTCACTCAACCTCCATGAACACCCAAGAGACTCCCCATTACTGCTGAGTGGAGTGGGGTTTCTGACTCTCTGACAGGCCTCCACTAAAATCACCCTGGCTGGTCAGAATAAGAATGCCTCTCATTCCCCACATGACCTGTGCCGACACCACCGAGAAGTGGCTTTATGATGCCCAGGTGGTAATGAAAGTTTTGGCTCCCAAGCAAGTCTCTTTTACATCACCTTAGGGTGGAGGAAGGGCACCTCCTCACTGTCAGAGGAGAGTGGAAGTTCAGACTTCCCATGGGGCCTCCATGGGGCCTCCACTGACACCACAAAGGGAGAGGGACTATCGCCTCCTGGAGATGAAAATTCCAGCTCTTGACTTGACTATCTCTGATACCACCCTGATGTTGGGGAGGAGGATTGGGGCACCTGATTGCAGCTTGGTGAGAGTAGATCTGTAGGCTCCCTGCCACCCCTCACTAGTGTGGATATGGGTGAGGCCACAGTTTCTTTTGTGGTGTATGGTGGAAGTTGAATAATGACTGTTTTAACATTTTCTACCTTGCTAGGTTGAACCTTTCCTGACCTTTAACTAAAGAGAGAAGTCTTTTGTTGTGTTGTGTTGTTTGCTTGTTTTCTTGTTTGTTTGTTTTTCTTTTTTCCCCCTTTTCACCCATGGTCTGTGAGTTGTCAGCTTCTCTAGCTTTAAGCCTTGGATATGTGAAATGGAAAGAAATCCCAGAGAACATATCGCCATGTGTTCTTTTGGTCCTGGGGTTTCTAATATGTCTGTTGCTTTCCACCTTTCAGAGCCAGGGATTTTAGTTGGACTTAGTCGGAGGAATTGGGAAAAGTACATCGATTCCACTTTCCCAGAGGTGGAAGTCCCAAGCACATCTTTATGAAATATTTTATCTAGCTTTTATAATTATGTTTAAGGGTATTGATCAGAATTACATAGTCTACTTGCAACCATTGCTGTTTTCACATAGCTTCATATTTTTGTCTTTTTTATCATTTTAGAAATATGGGATGGAAGAAGGAGTATAGCATTTGGCCAGTAACCTTTTAAAGGAAGCCTTTGTTAAGCACATGCTGAATGGCAGTGAAGTCCAACAGTGACAAGGGAAAAAACCACTGCAGCCAGGGATATGCAGTCTAGGGAGTGGCTACTGCCCACAGTTAGGGTAACAATGGAAAATGCTAACTTCTTTCTGAGCAGCTTTCACTCAGAAATGACACCCAACCAATTCTTGTGGGCAAGAAAGATTTTCTCAGGTTTATTAGTCGTAGATCTCCAGAGAAACAGAACCAATAGGAGATATCTATATCTCTATATTAATATATCTGTAGGTATACATATATCTCTATATCTATGTCTCCCTCTATCTACCTATCGATGTATTGTAAGGAATTGACTCACATGATTATGGAGGCTGAGAAGTCCCCGGATCTGCAGTTGACAAGGTGGAGACCCAGGAGAGCCAATAATATAGCTCCAATTTGAGTCTGAAGGCCTGAGAACCAATGGCGGGCCAATGACGTAAGTTCTAATCTGAAAGCCAGCAGGTTTGAAATCCAAAAAGTCAATGTCTCAGTTCAAGTCTAGTTGATGGCCAATTGATTATTTTATGAAATCATGATGAGAAACCAATGGAGAAAGGCATCTATAATCAATTGTAGACCAAGGTGGCATAGAACAGTGGAGAAAGAATATGAAATGCTGACTCATTTAATATTCATGTGGAAAAAATTAATCTTTACCATCACCTCACATTGTACAGAAAAGTCAATCTCAAACGGACTTAGACCTAATTGTGAAAGGTAAGATAATAAGGCTTCTAAAGTAGCACAGAGTATATTCCTGACTCTACGGTGAGCAAATCTTTCTTTAAAAAGACACCACAAAGGAAACTACTTTAAAATTTTACTTTATTAAAACCAAGAATTTCTATTCCATAAAAACAAAACTATATGAGGCAGAAAAAAACGGCATATGAGAAGATGTTTGCAATACACACCTGAGAAGAACCTAAAAATTCTAAAGCACTTTTACAGATTAATCAGAAAAAAAAAACCAACCCAATTTAAAAAATAGGCAATTGTCTTGAATATTTTATTTTTAAAAAATTTCATCCAAGTGCCCTCAAAACATATGAAAAGGTCATCAGTGTTATATAGTCATCAGGGAAATTCAAACTGAAACCAGCAGCTACCATTCCGTCCTCCATTCCCAAGTGGTCCAGTGTTAATGAGATTAAGGAGCAACAGAAACTCTCATACATGCATTTGGGAATATTACTCTTTGGCAGTGTCCACTAGACTTGACAAGGTAATAACATTTGTAGGTATATATACCCCATGCAAATGCACTAAAAGATGTTTATACAAATGCTAATAGCAGCATTATTCATAATAACCCCAAACTGGAAACAAGCCAAATATTTATCAATGGTAGGATAAGTAAATATGTTCTGACAAAATCACAATAAAATACTTTAAATCCCTGAAAAATAATAAACAACTTCAGTGTACAACTACATGGATGAATCTCCCAAGCCTAATGTTTGTCACAAAATGCCAGACGCAAGAGTATGATGTATATAATTCTATTTATGTAAGGTTCAAAATAGATAGGAGTAATCTATGTCGATAGATGTTATAGCAGTGGATACCATTTTTAGGATGGGTTTGACACGGGATGAGGGTGCCAGAAGGGCTCCTGAAGTGTTGGTAATGTTTTATTTCTATAAATGGGTGTTGATTACATGAATATATTCAGTTTGTGAACATTATTTGAGGTAAAATAGAATTTGTATGCCTTTCCGCATGTATGTTATTCTGCAATAAAAATTTATTTAAAATGTTTTGTATTCTTATTTTTTCAAGTACAAAAATTGTATGAATTGCATATTAAAAGCTCTCTTCCCCACCTCCCCGCCTACCACACATCATGCCCTAGAAAATGCCAACTCTTTGCAGGATTCAAAGAAATACAGTGGTGGTTCTGGATTCACAGTTCAGCTTTCTTCTGGTGCTTGCACTTCCACTAGAGGATACAGGGATACTCCACATTTAAACATGAAATAAAGAACCCAGTGAGGCTGGGGAATTGCCAGAGAAGTGTTCGTCAGTGACTTACAGGGTGGTATTTACCTCAACACACTTATTTCGGAATCTCAAAACCTCACAGGTAAATGTTTACCCTCAAGGCTTTAATAAGCGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTAAGATCAATATCTTTTTGGTTGCTATTTTAATGGAATATTTAAAAATTCTATTTCTGGTTCTGCTTGATTTGGTAATTTAAAAGAATCATTTTAGTTTTTTAAAAAGAATTATATATTTTTTAATGCACAAAAGTAATACAAGGTAATTGTAATAAATCAAAATATAAAAGTACATAAAGAAGCTAATAATTCCCCTTTGTTTCCTTTCCCACTCCTGTATGTAATGATTCAAACTATTTTCTATTTTCAAACAACTAAATATGAATATACATGGATAGCCTGCTCCCTTATTTTTTTCACAAATGGAATTAAATCAACTGTATTATACTTCCATTTGCTTTTTAATCTTTTCAATAGCTGCATAATATTCCATAATGTGACAGATTAAAGAATGCCACAAATCATTTGTGGATCCTTCCATTGAGAGGCCTAATGCCCTGATCCTTAAATCTGGGTTGAACTTGATGACTTGCCTAACCGATAGAATGAGGCAGAAGTCATGCTGCCTGAAGCTTCTGCCTTGATCTCTGGAACTCAGGTGTCATGCTGTGAGGAGGTGCAAAAGTTCCATGGAAATGCATATGGAGAAGATCCAAAGCTCCCAGGTACAGCCCTGGCTAAGCACCCAGAAAAGAGTCAGCACCAATTTGCCAGCCCTATAAATGAACTTGGTTTTCATGTTAGTGAAATAAGTTTTCAAGCTGAATCCTCTAGCCACAGAAGAGCTGCCCCCATTGATGTTGCACAGAGCAGGGATAAGCTGTTCCTGTCATGTCCCACTCAAATAGCAAATTCTGAGCAAAATACACTGCCATTATTGTATTAAGTTGGTAGATTTAGGGACGTTTGTTATACATCCATACATAACCAGAATACATAGAATCAGAACAGCTTAATTTACTCATTATTAACTATTACACTACATATAAACAGATTTTTTTCCTCCAACTTCTAATAGCTTGCAACAAACATCTTTGTGTACTTCTAATTTTTGCCATTTAAATAATACTGCATTGCCGCATTGTCGATTTACTTCATTTGATGCTTTTATTTTATGCTGTTAGTTTTTCTTCATATGTCTTATGACTTTTGTTTTGTGGTATGTAATTTATAGAAAAGACATAATATTTGGGGTGTTTCTAAGCTTTTAGGCTTGCCCTGCTTCTCTGCCAATCACTCATTCTATTTTTTTGGATGCGTTTTACTAGTGACAGATGCTGACTCCTTTTCTCACACATTAAGGAAAAACACTTATTTGATTTTTTAAAAAATCAACAGGATGAGTCATGATACTCTTTAAAATCTAATCTTTGAGAACTCCTCTATCTGCCATCTTGCTACATCAGTCTCTTGTTTGTTTCAGGAAAACTAGTGCAAGCAGCAAAGATAATGCTCCCTTGAAAATGCTTCCTGAAACCACAAAATATGGGTCCTTTGTAATTTATTCAGAATTTATTTGAACAAGGAAACCATGGTATTGGTATTTTTTTTACTGTCCACTGAGAAAAACAGTGTTTTTACAAGTTTTTCTTTCTCCTCATCATCGTTAACATGATTTCAAAGCACAAGGCTGGAAGTGCTGCGCAGTTAGTCTAATTTCAACAAAATATGCTTGCTGCTTTCAGACCTAGCACATCAGAGCTGATTTGATGCTTGATGTAGCATTGCAGCATCTTTGTGCTAGTTTCTTTCAAGCTCCATGTGAACTAATGTAACAATTCCCCTTGAAATCATTTGATTCCTATTATTTTGGTATATTAAACATGAAAATAACAGTTCAGCTTTCTTCTGGTGCTTGCACTTCCTCTAGAGGATACAGGGAGGGACTCCACATTTAAACATGAAATAAAGAATCCAGTGAGGCTGGGGAGTTGCCAGGGAAGGGAAACTGCTCGTCATCGACTTACAAGGTGGTATTTACCTCAACACACCACTTTACAAAACCTGAGTCTCACCTTGGCGAGATTTTCATCAGCAAATGGGGAACGTGGCCATCTCTCTGTGATGATTTGCCAATCGAGGTACGAGGGAGCACAAGTAAAAGTTGAATGTCAACTTGCTCATTTATAATGACTGATGAGAAACATAAATATATTTACAAGTTCTCTCATTTCCTATATAAAAATCTTCACTGAAATGTAATGCCTAGGGCAACCACTTAATAGTTTATACGAAGAAATCCACTCAAAACACTATAGAAAAATCAAACTAGAATTGTAAAAAACGTTCAAACAACCCACAGGAGGCAGAAAGAAGAAAACAGTAAAACAAAAAACTCGGAGGAAACAAACAGAAAACAAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATAAATAAAATGACAGATTTATTTCCTAATGTATATGTAATCACATTAAATATAAGTTGTCTGAATACACCAATTAAAAGACAGAAATTGACAGAGTGAATTATAAAATGAGCTAACTATATGCCAGCTACAAGAAACTCACTTTCAATCTAATAATATGGTTAGGTTGAAAGAAAAGATCGAAAAACTATATTACATATAAACATTAATCAAAGTAAAGTTGAAGTGTATATGTTATCCTAGAGGACAGACTTCAGAGTGAAGTAACAGAAAGGAACATTTCCTAATGGTAAAAGGATCAGTCCCTGAAGAAATCATAGCAATCCTAAACATGTATGCACCCAACAATGGAGCTGCAACATATGTGAATAGAAAACTGATAGAAAATTGAAAGGAGAAATAAACAAAATTTTAATGGGAGACTTCAACACTCCTCTCTCAACAATTTATAGAACAATACCATTAGCTGACAGGATCTAAACATTTAGAGAACAATTCACCCAACAACAGTAGAATCCGCATGTTTTTCAAGCCCTCACACAACGTTTACCAACTTAGACTGTATTCTGAGCCATTAAATGAACCACAGCAGATATAAAATAATAAAACTCGTACAGAGTTGGTTCTGTGGCCATCATGGACTCAAGCTACCAAGCAATAACAGAAAGATAACAGGAAAATCTCCAAACATTTGAAAACTACAAAATGTGCTTCTAAATAATCTGTGACTCAAAGAGGAAGTATTTTAAATTTAAAAATAGCTTGAACTGATTGACAATATAACATAGAAACATTTATGGGATGGAGTAGACATATGTTTCCCTATTCCTCCTACTTAGTGCAGCGAAAGCCCCTTAACATTATATACAAAACAAGACAACTCTGAAAGGTGGAGAAAGGAGGGCAGATCAGTCAGGGCTTTGTGTCCTGAAGAATGACATGATAGTGCGTTTCTTTGCTCTTCTTAGTGCCTTATATATCTCGCACTGAGTGCTGCAGAAACCTGAAAATGCCAATAGGAAAATACAGACTCCCTTATCCCCCAGAAAACAAACAAACAAACAAACACAAAAAAACCCTGCTTTCTGCAGCCACAGAACAAGAAAAGGGGCAGCCAAGCAAGACAGAACATTTTTAGACAATAACCACACTCCTCTTCAGCCAAACTCCATGGAAATAACCACTGCCCCAGCCCCACCCCAGTAGCAAAGGCCACCTGGCGAGCTTAGACTATCACCCTTGCCAAACTGTAGCAACTGCTCCTCCACGCTGTGGTGATGTCAGAGAAGGCCAAGTGGGAGGTCAGGACTTCCATTGCTGACCAGTGCTAGTGAGGCCCCATCTCTGGCCGTGCCAGTGGGGACCAGTGGGGAGCTGTGGCCACGCTCCCTGCCTTTCATGGAACTCTTACCCCTGCCCAGCAGTGATGAGAAGCCCCTCCTCTTGGGGGCCAATGGAGCCCAAGCGGGGATCTGAAGTTTGACCCCCACCTTGCAGTAATAGGTGAAACCCTCTCTACCCATTCCTTCCTTCAGAGGAAGCCTGCTAAAACAAAAAATTTAAATAAGGTTTGGTCTCATAATACCTCAGATGTGCAGATATCATTGACAATCCCTCATCATACCAAGAACTAGCAAAATCTCAAATGGAATGAGTAAAAGTGATCAATGGACACCAATAAAGAAGTAGCACCGATGTTAGGATTTTCCAACAAGGATCCTAAGGCAGCCATCACAAAAATGCTTTTACTAAAAATTTTTTAAAAGAGAGAAAAAAGGCATAAATTACCAATATCAAGAATGAAACGGGATATCAATATAGACCATGCAGATGGCTTAAGGATAATAAGGGAATATTGTGAACAACCCTACACACATAAACTTGACAATTTAGTTTAAATGGACCAATTTCTCAAAAAACACAATTACTATAATTCAGTAAACATGAAAGAGAGAATTTGAATAATCCTATTATTAAGAAAATTTAATTTGTAATTTTAACCCCCCCCCAAAAAATAAATCTTTAGAACCAGATGATTTTACTGTGAAATTTCCGAATTAACATTAACTCTAAAAAGTATCTTCCATAAATTAGAAGAGGAGGAAGCACTTCCCAACTTATTTTACAAGATCAGTATTACCTGATACCAAATCTAGACAATGATAGTACAAAAAGAGAAAAAAATACAGATCAATATCTCTCAAGAGTATAAACACAGGCCGGGCGCGGTGGCTCATGTTTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACTCGGTGAAACCCCGTCTCTGCTAAAAATACAAAAAAGTAGCTGGGCATGGTGGCGGGCAACTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGTACTCCAGCCTGGGTGACAGAGCAAGACTCCATATCAAAAAAAAAAAAAAAAAAGTATAAACACAAATGTCCTCATAAAATATTAGCAATCAAATCCATCAATGTACAGAAAGCAGTGGAGTTTGTGTCAGGGGTGCAAGGCTGATTCAATCATTAAAATCAATCAATATAATGTGCCATATTAACAGGCTAACAAGGAAAAAAATTACAAGTTTATATCAAATGATGCAGAAAAAAATTTGACAACTAACATTCATGACAAAAACTCTCAGCAATCTAGAAAAAGAGGGAACTTAGACAATTTGATATAAAATAAAGATAAACAGTAGACAAAATAAAAATATGACCCTTGTAATCACCTATTGAGGTGAAAGCTACCATGGTCTGGATTTTACTAATGGGGGTTTTGGTGTGGCAAGGAGACAAGAGGTAGCCTCCGGAATTTACTCAGCTCTTAAGTGAACAGGTAGGGACTTGAACCTGGTTGTTTGGCTCCAAGTAAGAAATAGAGTCCAGGTGGTCTGGCTCCGTAGCCTGGGATGGTGACCACCCTGCTGTGCTGTTGCTTACCCTCCAGAGCTCCCCACCTCCCCCAGCAGGTCCTAGACCTGGACAACAACCTGGTTTCTTGAAGGAGGTGATACCCATAGTACATAAACAGTGTTGGAACAGAGAGACAACATGGAGAACCTTCATCCCTCATTCAATGATAGGGTGGGGGTCTGGGGACAGCCTAGGCATGGGCAGACACATTTTCTGTGGCAGACGGAGGAGGCTGGGAGCTGGGCATTGCTCATGGCATCCGTGCAGCTTCAAAGTGCTCACCGTCTGCACCCTCACCCTCACCACCGCCTGCTGGCCACTCAGCAGCCCTGGAGGCAGACACTCCTTTGACCCTGTTTGACAGGTGATGACGCTGAGTTCCAGCGATGTTGAGCCTCAAGGTCAAGTTACCCAACTCCAGGAAGAGGTGGGCTTGGGTGGGGGCAGCTGGACTCCCCAGCTGCACTGGAAATTCTATGCCACATTGCCAGGAATGATAAATAACTCCTTCTGCATTAGGAAACAAGCAGGACTTCCTCAAGACAGACAAATGATTGAATATATAGAATTGTCCAGAATCACACCCCTCTTAAATGGATATGCTCAGACACACGAGTGGGACTGGAAGTGGAGGCCGGGTGAGGAGACGTTGGCTTTGCAGTCAATACACTTCTGTTTTGTTTTTTTTTTCCAACAAATGTATTCATGTGTTGCACAATTTTTAAAAAAGGTAAAAAGAGATGGTGCTATGTATATAATAGAGCTGTTATAAAAGTTTAAATTAAGTTATATAATAGTCGCAGTATCTGGGACATAGTAGGTGCTCAAAATAAACATTATTTTGCAAAGCGTCTTAGTCTGTTTGGGTTTCTATAACCAAAATACCATAGACTGGGAGACTTAACAGAAATGTATTCCTCACAGTTCTGGAGGCTGAGAAGTCCAAGATCGAGGCACTGACACATCTGGTGTCTGGTGAGGACCCACTTACTGTTTCATTGATGGCACCTTCTCCCTGTGTCCTCACATACTGGAGGAGGTTGCTGACTCCCTGGGGCCCCTTATATAAGGGCAGTAATCCCATTCATGAGAAACATTCAGACCACAGCATACATTTAAAATGCTTTACAGAAGCAGATCAAGTGAGACGATGATGGGCTCTCAGAGACCCATGCTCTTCTACAATCTATCTGCAAAGAAGACCTGGCTGGAGGTGGAGAGTATAAAAGCCAATCAGGACTACAGCGAATCAGGACGGTCTCTGATTAAAGGTGTTAACGACGTGACCTAGCCCTGGCTGGATGCAGTTCAGGGCCTCCCTGGGTCTTGGTTGCAGCCTTCATGAATATAACAGCCCCCCACACCACGCAGAGCAGGTTTTGTTCACTCAAGCCATGCAAGAGGCATGGGCTCAGCGTGCAGCTCTGTCTTCTCCAGCAATCTGTCCGGTTTCTGTCTCTTCAGCTCCAGCCACCTCCATGCGCTGCATGGAGCCCCTCCCTGCACTGGGTCCCAGAAGTTCTGCTTGTTTTCAGCGATCACACTCCCGCACTGTCTGTGGCTCAAAGTCTGTAAATAATGGTTTAGCATATTTCATCCACTTTTCTACCTGGACAGAAAGTGTAGTGTTGTTAGTTGGTCAGAGCAGGAGGTGGTTCTGTGTGTTTTGTCAGCCTTCCAGATGTCCCCAAGCAGCAAGAGAAGGAAGGGGCTGTGCACAGCCTTTGCCTGGGGCTTCCTATGTCCATCGGAAAGAGAGTGGATCGCATAAGCTCTCACAGAAAGAATGAATGAGCGAGTCAGTTGCTTCCCTGAATGGCTTTGTTCTGTTCTGGTGCATCCTCTGCTTGGGACCCACCTGCTAGGGCGTGGTAGAGTGAACAGCTACGTGTCTTTGTTCAGCACCTGCTTAGTGCCAGGACCTTTCTCTCTGCTTGGGAAATTGCCGTCTTTGTTTCACAGAGGATGAAGCTGAGGTTCGTAGGCTGAATTCTGGTGGCCCAGTTTTCCGGCCTGGGCTCCTTCCACTTGTAGAGTGGCCTATCTCAGTGCTGCCTATGCCGTTGGGAGGGGTGGTGGCAAAGGCAGACCAAGAGTCACCAGGCAATTTCTTAGGAGCCTGAAGTCTGCAATCCTCCAGTGAAGCTTTTCAGATGAATGTCCTTCACACCCCAAGAATTCTAGAAATGCTGAGCCCCTAGCCTGGAGGGCAGGCTTGGTGCCTGCAACAGAGCATGGGCCCAGCGACCCCTATGGTCTGAGAGAGAGGGTGAGGTGGGAGGACCATCCACTCTGGGAGACTTGGGCTGGCCTTGCAGACTGAAACCTCTCCTGTAAAGTGATGTGTGTCCTGGACCTGCAGGGAGGGAGGGGCCTCTGGAAGTCAGGCCGATTGCCAGGGTCTGTGAGGCATCTTCTGAAGCCCAGGCCCTGTCTGGCTTTTTCTTGCCAGGAGTCTGGCTCTCTTGCTCCACATGAATGACTGAAGTTATTTGAAGAGGTCCCCCAGAGAGTCATCAGGCCTCTGGTGGAATTGCAGGGGCTCAGGGAAGGCACAGAGATAGGGCTGTAATGCCCGGGGAGGGAGCGGCCCAAGGCCTGCCCCAGACCACTGCAAGCCTGGGTGCTTGGAGAGGAGACGGCCATTAGCATGGCTGTTAAGAGCCGCTGCTGGGGGCACTGGCAAGGGACCTGTTCAACAGCTTCACCCACTGGGCCATGCACCTGACAAGCATTCACCAACCACTCTTTCTGTCTTACAGGAAAGTGATGGGGGTGGGGAGCAAGGTTGCTTTGGCCTGAGGTCAAACCATCAAGATCTGCATATGTCTACAGTTATTGATCCTTCTATTAGGTAAAGAAAAGAATTGTATAAAAACCATTCAGAGCTGCTGAAGATGTTGTTACACTTGCCAGATCTGGGAACTGCGATTTTCCTTTGCAGCTTCAACAAGAGAAGAAATCTCACAGGGGAGGAAGGGGTCGCTGAGCGTCCTCGGCCCATGGATACCTTACTTTGTGGCGCCACCTAACGGCTAAAGGTTAAAATTGCAAATCTTAAAGATTCCTCCGGCAGAGGAAGAGGTGGGAAGGGGCCGGGTTTTTGAAGAGCAGGCTGAGAGAGCTTTTTTGGGAGATTTGTTTCCTGCTTTCTGGGCACATGCACCTAATGACGATACAATCCTACGACCCATCTCTGATTCTTCCCCTGACCCACTCTGGTGTAGCCCTGCGGAGATAATTGGCAATTGCAAAGTCACCTGCCTTTGACTTCTGACCCAGTAACCCAGGAAACCTTGCCAAAGATACTCTAGCAAGAAATACGAGTCGGGTTTACACGTGCCACACCCTACGGAATTTTTTGTTATCGTAAGAGACTCAGAGCGATTCACATGTGCATCAGAGAGGGCACTGATGGAAGCAAACCTCGTGCATCCCACAGAGTTACAGCCAGCAGCGCTCAGGCTGTGTGGCTGCCGCAAGTGCCCCTGAGCCCCCTGAGCCCCAGTGGCTGGCGACAGCCCCGCTCCATGTCGCCTTCATCCAAGATCTGCGCCGCGGGGCGGCCGCCATCTGGAGCACGGCTGGCCACGGTCAGCCCTAAGCTGGTGGGTGACACTGCGTCTGCGCACACTTCGTTGCTCAAAGCCAACTGTATGTGCTGACTGGGTGTGCCTTCTAGTGTCCTGTGTTCCTGCTGAGTGCCTAGCATGCATACTTCCTTTGTGCGCCCAGTGTTGTGTGCCTGTCACTGTGTGTCCAGTATTGAGTTATGTGCATGGTGTTATGCACCAGGCATGGTGTGTCTGACTTTGTTTGCCCAGTGTCGCGTAGCCAGCATCTGTGTCCAGCCTGTGTTCTTGCCATGTGCCTGGCCCTGCATGCCTAGTGTGGCACCTGGCTGTGCATACTCCGCATTGTATGCCGGGTTTGTTTGCTCCCGTCTGTGAGCCTTGCAGTGTAATCCTGGAGCGTATGCCCTGTGTTGTTTGCCAACTGTGTGTGCAGGTACTGTGTGTACCTGGCGCTGTGTTCCTGCTTGTTTGTGCCTAGTGGGCATGCCCAGTATTGCATGCCTGGTGTTGTGTACCTGGTCCTGTGTGCCCAGTATTGAGATCCCAGAGTGTCTGCCCGGCCTGGGTGCCTGCGTTGTGTGTCCGGCCCTGTGTGCTCAGGTTTGTGCATCCAGCTTGGTGGGCCCAGAGTGTGCCTGGCATACGGGCTTAGTGCTTTCTCCCTGGCATTTTGTGCCTGGCATGTTTGCCCAGCACTGTGTGCCCTGCATGGTGTCCCAGAGGCTGCGCCTACTATGGTGTGTCTGGCTTTGTGTGTCTGGCATTGCATGCTCATTGTTGTATACTTACTGTGTGTGTCCAGCATGGGGCGCCTGCATTGTTTTCCTGGCCCTGTGGTTCCAGAGTTCTGTTTCTGCACTGCATGCCTGGTGTTGTGTGGGTGGAATTACATGGCTGGTGTGTACATGGCTGGTATGTGACCCAGCGTTGTGAGCTCAGTGTGGTGCTCCTGGAGTGCCTGGCCCGGAGTGCCTGCTGGTGTGTGTGTGGTATGTGTTTGGCATCATCTGTCTGAGGTTTTGTGCATAGTGTTGTGTTCCCACAGTGTGTGCTGGCATTAGTGCCTGGACTTGTGTGTGCCTGGCATTGCACCCTGGCTTCTGTGCCCAGCATGGTGTGTCCCAGTGTTTTGTGCCCTACAGTGAAGCTCAGCATTGCGTTTGGTGTGTGTGTTCAACATGTGTTACAAGCATGGGTTCTTGCCGTGTGTGCATTGTGTATGTGATGCTGTGTCCCTAGAGTGTGTGTAGCATCTGTGCCTGGTGTGTGCCCGATGTTGTGTTCCTGCAGCGTCTGGTGTTGTCCCCAGTGTGTGCCAGTGTGTATTCCCAGTGGGTGTGCCAGCTTGTCGGTCATGGTATGCCTGACCTTGTATGCCCAGAGTTGTGTGTCCAGTGTGTCCCCAGCTTCAGTGTCTGTGGCTGGAGAGTGTGTCTTTCCTTCTGTGTCTGGTGTTGTGACCCAGCATGGTTTGTGTGGCTGTGTATGCTTGGCAAGCGTGCCCACTCCTGTGTGCCTGGTGCTGCGTGACTGGCACGTGTACCTCGAATTGTTTGGCTGACAGTGTGTGCCCAGAATTTTGTGCCCACTGTGTGGGCCTGTGTTGTGTCCTGTGCTGTGTGCTCTGTTGTTAGCCCTGTGTGTGTGCTCTGTGTGTCTTGTGCTGTGTGTCCTATGCTGTGTGGCCTGTGCTGTGTCCTGTGTGGTGTGCCGTGCACTGTGTGCCCTGTAGTGTGTGTCCTGTGCTGTGTCCTGTGTGGTGTGCCGTGTGCTGTGTGTCTTGTGCTGTGTGTCCTGTGCTGTGCGCCCTGTGTTGTGTACCCAGTACTTCTGTGTGTCCTGGGCTGTGTGTCCAGCACATGTGTCTGCTGCCCCACTGTGCTGAGTCCCAACACCCACCTGTGCGCCTGGCACTGCCTCGTTGTTGGGGAGGACACCCTGTGTGGCCGTCCTCGCCACCTGCTCGAGCAGAGCTGAGGATCCCATCGTGGCCTCTGCCCTCACTTCCACCGCAGTTTGCCTTCCTTCCTGGGGACACTCCTGCCTGGCAGCTCCCCATGTTTAGCCTGTTCCAGGGATCAGCTTCCACCCCAGGCACTCTCCATTTATTTGGGGAGTTCCCACAGGATGAGGCCCTTAAGGGAGTCCCTCCTCTCTACTGGGGATACCCCTGAGCAGGTGGGGACTCCTGTCCTTCATTCAGCTCATCCCCAGCCCTGGCTGGAGCTTTCCCTCCTTTGCGGAGGTGGGCTCAGGCAGGCCTCGCTGGGGAGCTCACCAGGCCCTGTGCGTGGGGCTCTGCAGGCCCAGCCAGTCCTGACTCTGCCGTGAGCCCCGCACCAGGATGGGAAGTGCCCTGAGAGCTCATCTCCTACCACCTCCAGGGCTGGGGCTGGCGCCTCCTCCAGCCTGGCATCTGGCCGCGGCGGTCTCCCCAAGCAGCCACCAGGGGGCAGAGCCACCCTCTGTCCACACCCCGATCCTCCCTCACCCCTTCAATTGCTGGACAAGGGACCCTTGCCTGAGGACGCCCTCGGATCCCTCCTGTGAGACAAGGAGCTGCAGATAACCCCAACCTCTACACAGACAGAAAGGAGCAGATTTCATAAAAAGCAGGGAATTTTTAAAATGTGAGTAATTTTTAAAAATACAATCTCCGCGTAAAACCCACTTAGAAAACCTTGTGCTTTCTGATTAATAGAGAGCAAATCACTTACCCAGGGCTATTGGATGCTGTAATTTTTTAAGGTTTTAAATATGCTTTTATTTGTTTCCCCCTGATGGTCTGAGGCTTCTATTCTTGCTAACTTTTTAGTTCTCCTTGTCCTGGGGACACAGGGTATGGGGCAGGACCTCCCTGGATTAAAGGAAGTGAGTCAGACATGCCACCGCCCGCAGGTTCCAGGACAGTTCTGGTCTGAATGCAGTCCCGACGCGAGTGCTGTTCCCTGGGAGCTGAGACCCGCAAAGATGCCCTTCCACCACCCTCTCCCCACGGTTCTTTCGTGCTGCTGCGTTCCTGGAGGCTGAGCTTCTGTCCCATCCTGTCTCCTTTGTGTGTTTCAAACCTCTTTCCAATTTCTGTTATACTGATGCTGTTCTCCTTTCCGGTACTATTACATGATTTTCTTCCCATTTCTCATGATTCAGAGCCCATGGTGGGTGAGGGGGACAGTTGGGTGGTCCACACCTGAGACTTCATGCATCCTGTGAGGCTGAGTCACAGGCCTGGGGGTCCTTGAATCCCTCTTATCCCACAAGGGAGATCCTCCTGGAATCTCAGCAGATTGGAGAGCCCAGCTGAGAAGAATCTGCTGTCCTATTAGTGCCCTTGGTTTTGAGGTGGCTGTAAAATCCCTTGCTAGAGGCGGAAGAGAGAGGATCGCACCCCAGTATCGGACTGCTGTGGGCAAGTTGGTGAAATCAAATGTATTGTTACTTTCTGAGAATCAGCACCCACATTTTCTGCATTTAAGGATTTTATGGAGCACAACGAAATCCACAGCAGTCACAGCAACTGAGAGAGAACGCCAGGCCACACTCCCTAGGCATTCCTGGAGAGGTGTTCTATGCCTTAAGGATGAACAATAGAGAATTTGATTTAAAAAATTGATGGAAAGTTAATGTTGAAAGAAGTCAGGGTGAAATAAAAGCATGAGATGCTGTATGGGATGTGAAGATTTCTAGGAGACAATAATAATAGACAAGCAAATGAAGACTGGTGTAGAGTGAAAGTTAGGTGGCCAGGATACGACAAGGGCACTGCAGCCAGGATTCCTGTCCCGGGGACAATCGGCACAAAGAGTCTGCACCCGGGAGGACAGGGGCCTTCAGTGTGTGATCTGTACTGAGGGTCTGCACCTGAGAGGACAGGGGCTTTCAGTGTGTGATCCCTACTGAGAGTCTGCACCTGGGTGGACAGAAGCCTTCTCTATGTGATCGGTACTGAGGGTCTGTACCTCAGAGGACAGGGGCCTTCAGTGTGTGATCTGTACTGAAGGTCTGCATTGAGAGGACAGGGACCTTCAGTGTATGATCTGTACTGAGGGTCTGCACCTGGGAGCACAGGGGCCTTCAGTGTGTGATCTGTACTGAGAGTCTGCACCTGGGAAGACAGGTTCCTTCAGTGTGTGATCCGTACTAAGGGTCTGCACCTGGGAGGACAGGGCCCTTCAGTGTGTGATCTGTATTGAGGGTCTGCACCTGGGAAGACAGGTTCCTTCAGTGTGTGATCCGTACTGAGGGTCTGCACCTGGGAGGACAGGGCCCTTCAGTGTGTGATCTGTATTGAGGGTCTGCACCTGGGAAGACAGGTTCCTTCAGTGTGTGATCCGTACTGAGGGTCTGCACCTGGGAGGACAGAGGACAGGGACTTTCAGTGTGTGAACTGTACTGAGGGTCTGTACCTGGGAGCACAGGGGCCTTCAGTGTTTTTTGTTTGTTTGTTTATTTGTTTTCTGTAATGAGAGTATGCACCTGGGAGGAGAGGTGCCTTTGGTGTTTTTTTTTCCTGTACTAAGGGTGTGCGCCTGGGAAAATAGTGCCTTTTGTGTGTGATCTGTACTGACAGCGTGCTCCCATGATGACAGGGTCTTCAGTTGTAATCTTCTCTTAGAGTTTGCAAATGTTTGGACATTGTGTCATCTTTTGATGTTTGGTATTGAGTGTCTATATGGGTGAAGTTAGGGGCCATTTTTTTGTCACTTGCACTGAGAGTGTGCACACGAGACCTGCGTTCCTTCCATGTGTTATTTGTGCTGAGAGTCTGTGTGTTCTGAAAAGCCCCTTCACTTTGTTTTTCACTAATACTCTGCACATTTGAGGACAGGGATCCTTCTTTGTGACCTGTAGCGACCATCTGCACCAATGAAGGAAAAAGGCCTCCAGCATTTGATCTTGCTTAGATTGTTGCTTTGTGTGGATGGGATGGATTTCTGCATAGATCATTCTCAGTCTGTTTTTGTACAGAGATGATTGATTTGCTTTTCTATTCTCTGATCTGTGTCATCTCATGCTATCCTCAACTTTACTTGCTTTACATATAAATTGAGTATTGCAAAATTAAGTAAACTCTTAATAATGAGAAGTAAACTTCTTAGTAATTCTTAGATGGGCTTAATTACAACCTTTCATCTTACTGCTTTGTCCTTGGCACACACTAATTACTTCCTGAGTCATCTGGTTTTGGTTTCCTTATGCTGTTGCTATGATCATTCAATGGATCATGGATGTAGAAAGAGTATCTTGCTCCCCTGGAATACTCACAGATGGAATGAGCTTGTTTTGTATCTTGGAATGGTTTAGGGAGCCACAGACGGACAAGGAAGATTTTGCCTTCTATGCCACAGTAGAAACATGACAATGTACGGGGATGGGAACAGCCTGGTGTGCTCAGAGACCAGACTAAGCTTTAATTTAATTGTAATAACCCTGGTGATTTGGGGAATGAGGGTTAGAGATTGGACAATGTGAACTGGAGACAGATTCTGAAGGACTGGTAGAGTTTGGATTATGGAAGGGTTTAAGCACTTGCAAACAAAATTGATTTTTTTGTTCTTACTCACACCAATGTGTGTTCAACTGGGGAAAGATCGTAGAGGTAACTCCTGAAGAAATTACTGTGGTGGGTCCAATGGGTGCAATAGATTTGGATCCATAGAACTTGTCCTGGTGGAAGATAAGGCAGGCATCAAACAGGGGTGGAGAGCAGATGGGAATACTGTGTTTCCTTATTGATCAAGGAGAGGGAGGGAAAGGAAGAGGGACTCCCAGTGTGCAGGGGCAGAGAGCAGTGTAGAGCTCAGATGTCTTTCTGGTCCAGGGTTGACCTTGGAATCATATATCTGCTCACGTGTCTTTTTATTTAAGACATCTTTTGCCTATAGGTGAGGGGGCGAGAGGACCTTCTCCCAATTAAATAACAATAATAATAGTAATGACTTTTTAACGGCATGTCCTAAAGTCTATTATTAGAATATAGTACGCCTGCTGCAGGCTCATAACCTCATTAACTTGGAAATAATGCAGTATGGGCAATTAGGATGATAAACCACTTATGCAATTTCATAGTATGACATTAATGAATGTACTTGGGAAGCATTTCCTTAGCACCAAGGCCACAGGAAAAGTCAAGGGGAGACAGGTGCCAGTGGATGTAAACAGTACAGATCAGTGGAGGGCCGTATATTTGAAAGCCTAGCTGTGTGTTGGTTGAGTAGGTCCCTTCCAAACTATGCTGTGCAGGTTATGATGGGGAAGGGAACAGAGACAGCCCAGCGCCTTGCGGACGGGGCAGGAAGGCTCTGGGCTCTACAGCACTGGACATCCAAAGTTTCCTCTATGCCTATACCCTGGGGTCTCTACCAAACCCAATTCCTGGGTAGAGAATGCTCACCTTAAAGAAATGCTGGAAATCCAGAGACCCTTACACTGGTTCATAATTAAGAAAGCAATGCTGACAAAATCCCAACAGGAGCCCCATGCAGAGGATCTTGGCTGGCTATGTCTTTTAGTGATCCAGAACAGTGCCTGGAAAAGCCATTAAGAAATTACGAGTTGAAGATTAGCTGAGAAAAGGCAAGAAATTGAATGAAGTCAGTCTAAGTGTGCCATCAGGCATTTTTCTAGCTGTCTGCTCAGAAAGGTCTTTAAAGGGTGACCAATCAGCATGTCAGAGATGAAATTGGATGCTGTGAGAATCTCAGGTAAGCAGCCCATGAAAAGGAGGGAGCTTTCCAGATATGCCTTCTTCCTGGAGACCTTTCCTCTCTAGTGCATGTTTATGGATGGTTCAGGATCCAGGGGCATAAAATTCAGCCAATTTACAATAAGCAGAAAATATTGGCAAGATTTCACTTAGGAGATTGCAGATCCAGGTGTGTGAATCAACCACAAACACCACCACAGAGTACTCATGGTGGATGGTGCCCCCACACCAGTGCCCAGGACAGGCAAACAGGCTGTCAGTTCTGCCCATCTGATGCTAGACACCCAGATGGAGCTCTGCACTGCACCAGGCCGTGTGTGATGCTCACTGGAGGGCCTACGCACAGCCTTTCCTCCCGGGGAACTATGGCCATGTCTGCCGAAAGAGGTAATTCTCTGACAGTACAGCAACTGGAAATGAGAAGGTCTCAGGGGAGCATGGAGTTATAGAAAAATGAAGCAGAAGACATTGAGGTTGTTTCCCAAGACCTGTTCCCAGAGACCTCATAAATATCTCTGTCCAAGAGCAGAGGATCCCGCTCCAGTGGCCTGAGCACTCCAGGCTCCAGTTTGCTTTTCTGTAGGCTCTATGCTCTTTCCTTAGGCTTATGGCTTCTTCCTTTTTATAGGAAACACTCCTTTTTTTTTTTTTTTTTGAGATGGAGTCCTGCTCCTGTCACTCAGGCTGGAGTGCAGTGGCACAGTGGCACGATTTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCTTGCACCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGAGCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCGCTGTGCTGGCCAGGAGACACTGCTCCTGATACATCCAAGCTACAGCCATGATGCTGTTGGCGTGAGCCTAGGAGATAGGTGCACGCTTCCCACTGGCACAAGCTTCCCTGTAGCCTCTCGAACAGTTCTGAAGCTGTGACTAAGGAGCAGCTATACCAAGGCCTCCCACACCCATATTTGTTCTCCTTCTTGTGGAGTGCTCTGTCGACCTGATGCAGGGTAAGGATTGGCCAGAGCAGATCCCCGAAGTCGTGTGACCCTGGCCCTATGAATCATCATGGAAAACAACTCCTCCTTGGGGAAGGTGCCTAAAAAAGAGGAGTTCAAGACACTTTATGCATAACCTAATATAATAGCTAAGGAACCCAGCAAAGCTGCTTGATTAAAAAGCTCTGTGTGTATAGGCCGAGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTCGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAAAAATTAGCCAGGCCAGGTGGTGGGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGGGCTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGCTCTGTGTGTATATGCAAATGTGTGCACACATGGGAGGGAGTGCTGTGTGCGTGCTTCAGCAGGGCTGAGAGGAAGAACGGGAAGCTGGAGACAAGTGTGTCCTTGTTTTTATGATTATCTCCTAATAGTGTGTCAGTTAGGATTCTACAGGGAAATCGAACAAACAGAATGTTGCTGTAGTTTGGATATCTGACCCCTCCAAACCTCATGTTGAAATTTGCTCCCTAGTGTGTTGGAGGTGTGGCCTAATGGAAGGTGTTTGGGTCATGGCAGTGGATCTCTTATGAATGGCTTGGTGCTGTCCTTGTGGTAATGAGTCCTTGCTCTATTATTTCCCACAAGAACCGGTTGCTACAAAGAGCCTAGCATCTCGCTCCCCTCTCTCTTGCCTCCTGTCTTGTGATCTCTGCACACACGGACTCCTCTTCGCCATCTGCTATGAGTGGAAGCAGCTTGAGGTTCCTATCAGATGCAGATGCTGGCGCCATGCTTCCTGTGCAGGCTGCAGAACCATGAGCCAAATAAACCACTTTTCTTTATACATTACCCAGCCTCAGGTGTTTATAGCAATGCAAATGGAATAATGCAGGTGTATACACACAAGAGGCGATTCATTATAGAAACTGGCTCACGTGGTTATGGAGGCCAAGAAGTCCCACAATCTGTTGTCTGCAATCTGGAGAACAAGGAAGCTAGTGCTGCAATTCAGTCTGAGTCCAAGGGCCTGAGAACCAGGAGAGCAGATGTCCAAGGACAGGAGAAGATGGAGTCTTAGCTTAAGCAGAGAGGGCAAATTTTCTCCTCCACCTTTTTGTTACATGCAGGCTCTCAGTGGATTAGATGATGCCCACCCACATTGGAGAGGGCCTTCTTCTTGACTTAGTTCACCAGTTCAAACAATAATCTATCCTGGAAACACCCTCACAGACATACCCAGAAATGATGGTTTACCAGTTGTCTGGGCATTCCCTCACCCGGTCAAGTTAACACATAACATTAGCTGTCACACATTGTAAAGGATGAAATTCAGATCAGAGGATTGTCGAGGGCTGGAGGTAGGTCCTCAAGCTCACACTCCTGCCTTCACCCAGGAGGCAAGAGAGACTAGAAGTCCAGCTGAGGTGAAGGTGTAATGAGCCAAATAGAGTCAGGACTGAGACTCCAGCCTCCTGAATTCTACTGCATCAAACTTCCCCTGCACCTCTTGCAGATGCAGATTCCCACAGGCCCCTCTGCATCTTTGCTTAGGGTGCACTTCCCCACTCCCTGTCTGCCTAGATGAATACTGCATGGGCTGTTGAACAGCGTGATTGGGGTTGTACCGATATGCACATTCCATCCAGTCTGCCAACGTGAGTTGAATTAATTCCAATTTCGTTAAGGAAGCTGAGGACAACCTGAAGTTCTACTGAATGGAATCCTTTTCAGAAGAGAAGAACATTTAAGTAGATTACAGTTTGATATTGTTGGCCATTTTCTGTTGAATAGTGGAGGGATGGGGGTAGTGAGCTGCATCGCTTCATAGGGTGGAAAATGGCTTATTTCTGGCTCATCTGAAGTTCCATGGCTTTTTTGATATGATTAAACAAGGCATAAATGAAGCACTGGCACATGTTCAATGCAACAACACCCCTTTGTGAATCTATTATACACTGGGAACCGAGCTGTGTCCTCAGGATCTAAAGCTGAAGGAGGCACAGGCATCAGGATGGTGGCAATCTCGCAGCATCACTCCAATAAAGGAGGCATCTGGCATTGTGAGAACACAGACTAGAGAGCAATGCATACTTCCAGGAAGTGGATAGGCTTGAGACATGCTGGAGGCAGGAGGCAGCCTTTGACTGAAGCTTGGGGCAAACCAGTTGGGGCCTGGGACAGAGGGGGCAGATGGCCATGACTGCTGTGACTTGATTGGGGAGTGTCTGGACATGAGACTTGACAGGCCTGGGGCCTTCAAGGGGAGCCTCACGGGAAGCAGTCGTTGAAGACAGAAGTGGCAAAAAAAGAAAAAAAAATGTGGTTCCTTTTTTAGAACAAAGACTCTGGCCACAGTGCGGGGAGAGAGGGCACAGGCTGCTGTCTTTGCAGGAGTGTCAGGAACCTTGTAGAGAAGATGCCAGGCTGAGTCCGAGCCCAGCTGTGCAGGAGAGGAGGGACAGGTATGATGGATGTTTCTAGGGCAGAACAGACAGGAAGCGGGGGAGGGAAGGAAGGAAAGACGGAGGTGGGGATGCATCTGAGGTCTCCCGTTTGAAAGCTGGGAGAAGAATGACACCTTTTAATGAGACAGGCCAGTTGATGGAGGTTTGGGGAGAAGCAAGGTGTGCTCATTTAAAAAGTTTTATTTTAGAATAACTAGACTTATGGGAAAATTTCAAAATAGTACAGAGAATTCCAGTAAATCCTTCACCCAGCTTCCCCTAATTGTGAGCATCTACAGTGCGATGATCAAAACCAGGAAACAAACAATGATACAATATTATTATAAAAACTACAGAATTTATTCATATTTTTCCAGCTAAGCGGCTTATTTTTAGATCTCTGGGTTGAGGTGCTAACAGACTTCCCTGGAGCCCAGGATTATAACATGTGTAATGAGACCTTTGCTTTCTCTTTCCATCTGTGCTCAGCTCCGCACTTCATTTCATTTACCTTATTGGTGGATAGATGATTTCTTTTTCAATCCCTTGGATGTGATTTTATTTTAGGTTATCATATAAGATGAAAGATACACACACACACACACACGTGTGTGTGTGTGTGTGTGTATCCTCTTCCCCTCTGTGATTTCAGAATTCTTTTTAACTTGCAACAGTTCAATCCACTTACCTCCACTGCGCCTTCCCAGTGGAACTCTCACAGTCACCAGGCACGTCCTATGTGCTAGTGCGGTACTATCTGCTCAGTCCTCACACTAACCCTGCAGGCAAACCACGACACACTGGGATCCGGGAGCTGATCAGCTCACCTCCTGCAGGCAGCCGAGGAACCGAGTGTGAACCCCGAGCGCTGCTCCTAACTGTCATGTGCATAAGCATCTCAATGCACGTTTTGCTTGTGTTTTCTCGATTTCCTGTTCCTTATGTTTTCTCAATTTTTCTTCACAATGATATCTTTTTAGGCCCTTTTCCTTTCCCTTGTGATTTGGAAGGTGATAGTCTTTTCACCTTACCAGCAGTTGTTCTTACGTTGCTGGAACTCCCCTGCAAGCTCTTATCAAGTGCTTCCCTGCTGTCCCATCCAGTGAATTCACTTCGTGTGGTCCTCATCCAACTCAGCCCCTGAGCAGCTTTGGGATTGGGGGACCATGCCTTCCTTCTCCAAACTCTTCCCTCACTCCTTCTATGACACCAGAGCTGCACCTGCCTCCCTGCTGGCACCCCCTGTTCTACTGCACTCTCTATGTCAGTTTGCCTTCAGCCTTGGACCTGGGGTATTTCCTTGTCTCTCTTTATCTGCACCTTTCCTGTGTGATCTCCTACAGTCGGTTGCTCTACGTCCCAGCCCCAATCCATAGCTCCAGGTGTAATCCCTCTTCTGCGAGACTGACTGCTGGAAAACTCAGCTCGGACGTCCCATAGGGGACTCACCCCTAACAGGCTGGTTATTGCACTCTTGTTCCCACATGCTCTCCTGTCCTGCCCCAAGGAGTCACTCTTTTTTCCTCCTTTCCCTCACTCCCCGCAACCAAGTCATCAGCAAGTCCTGCAGATTCTAAGAAAATGCATATCGCTTTATTCACTTCTCTCTGCTTGCCCTGCACCCATAGCTCTTCCAAGGTCAATTGCAAGGCCTAAGTCATCTCCTCTACCTCCCATGCACTCTCTTTGAGTGGACTTTTGTCATTGTAAGTCCATTATGTCACTCCTTTGCTTAAGGAAACAAGTGCTTCATCCACTGCTTGTGAAAATGCAAAATGTTACAGAACACAATGCAGGGAAATTGGGAATGTCTGTCAATATGACAAACGCAACTACCCTTTGACTCAGTAATGCCTTCCAGGAATTTGTCTTTTGTACATATTTGCACACATGCAAAGTAATAAATGCACAAACTTATTGTAAGCAGCATTGAAACAACAAAATTTCCAGACAACTCAAAATCCCATCAAGAGGAAGCTGGATAAATAAGCTATGGTAATCAACACAATAGAACACTTTGAAGCAGTGAAAAAAATTTTGAGGAAGCCCTCCATATGCTGATATGAAAATATCTCCAGGATATACTGTTAACGAAAAAGAAGGTTGAAAATAGTATTTTATAGTATGCTATCTTTTTTATATAAAGAGAGAAATAAAAATTTATCTTTACTTGAGTGTGAGGGTGGTGAGGTCAACAAGAAAGAGAAGTGAGGCTTCCCATTGTATAATTTATGATAGTGTTTTTATGTGATTTTTGAATCTTGTTGAATATATTAATCACTCTCTCTCTTTCTCACATACACACACACACTCACACTTCAGGGACTTCTACCTGCTTCATGCTTCTAGTGGAGATCCGCACTTCTTCACATGGGCTACTCAATCAGGTCTCCCCCTCCTCCTCCATCCTCCCGCTGGATGTTCCCTCTCACTAACTGCTCAGCTACTTGGCCTGTGTTCTGTTCCTTGCCAACTTCAGGCCCCTCCAGTCTCCGTGCCTCCCTGGAACACACATTTCCCTGCTCTTCACGTGGCTGGGTCTTCACCTTTCTCAGGGTGCAGCACACAAACCAATCCTGCAGAAAGGGCCTCCCTGGCCCAGCAGTGCACAGGGCGTTGTCTCCCATCTTTCTCCATCCTTAACACCATTTGTTGTTGGTTTCTGGCTAGTTTGTTTTCCCCACTAGCCAGCGTGCTCCAGGAGAGCAGACACCACCTCTTATTCAAAATCCCAGGCACTCGATCTATTTTGGAATATATAAAAAAATCATGCTTAAGCCTAATTATTTATATTTATCTAATCACAAATTTTCTAGCAAAGTTATGAAAAAGTGACTTTTTATTTTTTTCCATATTCAATGAAGAATTTTGCTCACCTTTGCTTCCTTTGATGTTCAATCTCTCCAACTGCCTCACCCCTCTCCACAAGATACTTTGGAATCTTTGGGAATTTGTCCGATTTTTTTAAACAATGTATAATTGATCTTTGATATTTAAATGTTCTTTTAAAAAACATTGGATTTTGCATGCAATTTGTTACTACGTTTATAACATATTTATACCTAAAACTATATGTTCAAACTGTTTTGATGGCTACATCAACAATTCTGTCTCTTTCTTATCTTTGGATTCATTTTCATGTTTGTACCATGCTGCTGAAATATACCTTCTGTCTTCAGTCTGCTCAGGCTGCCATAACAAAATAACACAGGCTGGGCAGCATGAACAACTGAAATTTATTTCTCACAATTCTAGGTTCTAGAAGTCTATGCTGAAAACACCAGAAAACTTGGTTTCTGGTGAGGGCTCTCTTCCTGGCTTGTAGACAGCCACCTTCTCACAGTGTGCTCACATGGCTTTTGGCCTCTGTGTGTGTGTGTGCAGAGAGAGAGACAGATTGCTGATGTCTCTTCCTGTTCTTGCAAGGACACTGGTTCTGTTGGATTAGGGCCCCACCCGTATGACCTTATTTAACCTTAATTATCTTTTTAAAGGCCCTATCTCTGAATACAGCCACACTGAGGTTTAGGGTTCCAACATATGGATTAGAGTGGGGCACAATTCAATCCGTAGCATTCCACTCTCAGGCCTCCTCAAATTTATGTTCTTCTCACATACAAAATACACAAACCACCATTCCAACAGCCCCCAAAGTCTTATTCATTCCAGAATCAATCTAAGTTCAAATTCTCATCTGGATGTCATCCAAATCAGCTATGGGTGAGGTCCTCTCTAGCTGTAAACCTGTGAACAGACAAATTATGTGCTTCCAAACTACAATAGTGGGACAGGCTTAGGACGTACATTCCCATTTCAAAGGGGAGAAGTCAGAAAGAAAAAAGGGATGATAGGGTCCAAGCAAGTCCCAGACCCAGCAAGACAAGCTCCATCAGATCTTAAGGCTTGAGAGGAAAATCCTCTTGGGCTCAATGCCCTACCTTTGGATCCAGTGGGGCAGCACCTTTGCCTCTGGGCCTTGTGGGGCAGCCCTGCTCCTACAGCTCTGTAGGGCAGTCCCACCCCAGTGCTTCTGGTGGAGGCCATCTACCTGCTGAAACCAAAGTGGTGGCCTGAGCCTGACCCTTTGAAGACAACGAGGCAGCCCTGATGTTCTCTGAAACACCTTCCACGTCGTTCTTCCATTTTCTTGATGAAACAGTCCACGTTCACAGCCAATTAGCACCACTGTCGTCGCCTGCAGAGTTTAAGAAGTGCCACCACCCTCCTTCATTTATTCCCTCTCTCATCCCCTTCAGTGTAAGCCAGTGGTGTAGGTGTTTCTGCTTGTATTCCCTTCAATGAGCCACACCCTTGGTTCTCTCTTCAGGATACACTTTCTCATTTTTATTTTTTATTTGCCACATGGACAGACTAAGAATTTTCCAAATCTTTAAGTTCTTGTTTCTTTTGATGTAATAATTTCTTCTTCAATTTATCTGTCTTCTGTCACATTTTACTACAGGCATATCCAAGAGATTTTGGTTTGGTTCCAGACCACCGCAATAAATGGTCTGAATGTTACAATAAAGTGATTCGCAGAATAGACTGCTATACTGTAATCTATTAACTGTGCAATAGCATGTTTTTAAAAATGTACACATCTTAATTAAAAAGTACTTTATTACTAAAAACTGCTAATGATTATCTGAGCCTTCAGTGAGTTGTAATCTATTTGCTGGTAGAGGGTCCTCCCTTGACAGCTGCTGACTGATCAGGGTGGTGGTTGCTGAAGGTTGGGGTGGCTGTGGCAATTTATTTCTTTTTTTTGTTTTTGTTTTTTTGAGACTGAGTCTCACTCTGTCGCCTAGGCTGGAATCAGTGGTGCAATCTCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTATCTTGCCTCAGCCTCCTGAGTAGCTGGGCCTATAGGCACGTGCCACCATGCACAGCTAAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTGGTCGGGCTGGTCTCGAACTCCTGACCTCATGATCTGCCTGCTTCAGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGACGGCAATTTCTTAAAATAAGACAACTGTGAAGTTTGCTGCATTGATGGACTCTTCCTCTCATGAAAGATTTCTCTGTTGCATGCATTGCTGTTTGTTTTGGTAGGCGTGGCGGGGGGGAGCTTAGAAAAAATGTCTTATATAATACCAAGACCTATTATTCAAACCGATAGGGAGCCATTTCCATTCTTAAGCTTTATTTTGAAATATATGTCTTCATTTTTATAGGATGTGAGCAAAGCTTTGAAATTAAATTATTCTGTTTAAATTCAGCCTAGAATTCAAGGATAAATATTTATTCTATCAAAGTAGAGTTTGAATATTCTTCTCCATGTCTCCTCAGCCTCTTCCAACTTTTTCCTTCATTTCTCTCTGCCTATATTTTTTGCACTTCCCCTGCATCCATCTTTCTTCTACATGAGCCCACCTTTCATTTCCCTGTCGCTTCTCCTGGGTTCTTCCATCACGCTGTCTCTTATGTACAAATTGCTACCACTCTATTGGTCTGTCTCCAGATTCTTTCTGTCACTGTTTTTCTTCTGCTTGCCCTACCCTCTCTTAAAATTCTGCTGCCTTCTCTCAACTCTTGTCACTTTTAACTTATATACTTATTCAAATCTTTTTTTCTCATCTTTTTTTTTTTTTTTTTGAGATGAAGTCTCACTCTGTTGCCCAAGCTGGAGTGCAGTGGCACGATCTTGTCTCACTGCAACCTCCACCTCCCAGAGTCAAGCAATTCTCCTGCCTCAGGCTCCTGAGTAGCTGGGACTACAGGTACACAGCACCAAGCTTGGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTACGTTAGCCAGGCTGGTCTTGAATTCCTGACCTCATGATCCACCCACCTCCGCCTCCCAAAGTGCTGGGGTTACAGGCGTAAGCCACTGGGACCAGCCTTTTCTCATCATTTCTTAAGTTCTTATTATATGTGGGCCTTTTACCTTACCTCTTAGCTCTATCAGTGTTTTGCTTCCTATGCCTGAGAACACACACATTCCCTGTGGGAAGCAGGGGTAGAAAATTCACACAGCAAGCAACCAGGGGTGGAAGGGCAAGCTGTGGAGATATCCTGCTCAGCAGAGCCCTGCACACCTTGCAGGCAAGGGCATTCCATCCAACTTCACACCGACATTTTGCTAAAGTAACCAACAGTCTTGGTTTGCCCGGGACTGTACTAGTTTGTCACTGAAGGTCTTGTGTTCTGGGAAATATCTCAGTTTCAGGCAAATCAGGACAGCTGATTACTCAACATCTTACTTTCTTTACATCTTTTTGCATAGCCCTTTCATCAAACTATGCTCACCTCAACATTCAGCCTTACATTGTTCTTCTTTCTATAGTAACTGCCTGGTGGGACCATTGTTGTTACCAAGTCTCCCTTGCACCTTGCCCAGATGAGTGCAGTACTGTCTCTTGATTGACACATTGTTGTTGTTGTTGTTGTTGTTCCCTGGCTTTAGCCTACCCTGTACTTATCCTTTCTCTACCTGTTTTAGCATGTACCAGGCAGACTCAGTTATGGGAACCCGTGTGGCCCCATTGAAAGGATGCTCTTAATGCCGGGAGGTATCTTTCTCTGTACATAAAAATCACCCCTGGTATGTCATCTTGTTTATGGAGTAGTGCCAGAGATACCTGGCCTTACCTCATACTTCACCTCCTTTTGCCTACTGTGATCTCTCTTTCTGCCCACCCTAGCTGGCCCAGGGCTTACTGAGCCTCCCCATGGCCTTTGAGCTATGGCTGTATTTATTGGTGTCTAATCTGGTTTTACCATTCAGCTTGGTATCTACCTAAATGACTCCAACTTGAACTTGACCTGCATACCAGGCCCTATGTGGCACAGAAGATGCTAGGTGCAGGAGGCAAGCCAATTTTCTGCCCCTGCTATTAAGTCTTCCCTAAGCCGTCTCCTTGAACTTGTGTTTCTCTGCATGTTGGTGCATTTAACTCTCCCAGTGGATCTGTTTTCATTTCTCAGAACCCTTATTCTCTCCTGCCCGGTGCTTCTGTTTCTTGGTGTTTTAGCCAGGGATGATTTGGTAACAGGAAGAAGGAAGCCACTCAAACTAACTTATAAAAAAGTTGATAGCAGGCAATAAAATAATAAATAGATAATATGAACTTCATCCAAATTTAAAACTTGTGTACATTGGACGACACTATCAAAAGAGTGAAAAGACAACACACAGAATGGGAGGAAGTATTTACAACTCATATGTCGATAAAGGATTATTATCCAGAATGCATAAAGAATTCCTACGGCTCAACAACAAAAAACAGTATCTGTTCATATCTTCTGCCCATTTCCTAGTTGTATTTTTTGGTTTTTTTAATATTGAATTCTTGAGAATCTTTATATATCCTAGCTATAAATCCTTTACTAGATAAGTGATTTGGAAATATTTGCTTACATTCTTTAGCTTATAGATTTATTCTCTTCAGGGGGTATTTTGTAGAGCAAAAGTTTTTAATATTCTTGAGCTCCAAATTATCTGTTTTTGGCATCAAATTTGAGAAAACTTTGCCTACCCTAGATTCTGAACATTTTAAAATATTTTTTTCTAAAACTTTTATAGTTTATATTTTCCCTTGAAGGCTATAAAGCATTTTGAGTTCATTTTTATATAAGATATAAGGTTTATTTTTTTCTTACCCAATGGATGGCCAATTGCTTCTACACCATTTTTTGAAAAGACTATCCTTCCTCCATTTAGCTGCTTTTATACTGTTGTTAAAATCAATTAGACATATGTGTTTGTGTCCATTTCTGGGTTCTCTATTCTGTTTCATTGATCTATGTTTCTCTCTCCTCAATACCACAATGTCTTGATTACTACAGCTACACGGCAAAACTTAACACCAAGTACCATGTTTCCTCCCACTTTATTATTCTTTTTCAAGATTGTTTTAGCTATTCTAGGATCTGTGCCTTTCCATATAAATTTTAGAATAATACAAATTACAACTATATAAAATATAATAATATAATAAACATTACACTATGATAATAATTTTAAAATAATACAAATTTTATCTATGTCTACAAAAAGTCCTTGCTGAGATTTTAATAGGAATTGCATTAAACCTATAAATCAATTTTGGGAAAATTGACATTTTTGCTATTTCTGAGTTTTCTAATCCATGAACATGGTACACTGCCTATTTATTAAAAGGTACACTGCCTATTTATTATCAGATCTTCTCTGATTTCTTTCTTTCTTCTCTGATTTCTTTCTTTCTTCTGTGAAGAAAGAAATTTTCAGCATACAGATCTTACAGAGGTTATAAATCCATAATTAAGTTTTAATTTTATTTGGCATGATTGCAAATGTTATTTTGGTTTCTGCATACTCACTGTTAGTATACAGAAATGGGATTGATATTTGTGTGCTGACCTTGTAAACTAGGACTTTGCTGAACTTACTTATTAGTTATAAGAGTTTCCTTGTAGAATCCTTGGGATTTCCATGTAGACAATCAAGTCATTTGCAAATAGGAGCAGTTTTATTTCTTTCTTTCTGATCAGTGTGCCTATTTTTTTTAATCTTATTAAAGTGGCTAGAACTTCCAGTACAAGAGTGGTGATTGCTGAGATTTTTCCTCCTGTTTCCAATTTGAAGGAGGAAAAAAGTATTAAATGTGATGTAAGGTATAATCTTGAGCTTTGTTTTTATTTTTCAAGTGGTCTTTATCAAATTGAGAAAATTTTTCTTTGTTCCCAACTTGCTGAGAATTTTTATCATGAATGGATGTGGGATTTTGTCAATTGCATTTTACATCAATTATCAAAAGCGTATTACATCAATTGATAATAGCATATGGTTTTTTCCTTTAGCTTAATGACATGGTGCATTACAGTGATTGACTTTAAATGCCAAACCAGCCTTACATCCATGGAATAAATCCAACTTGATAATTCAGTTGATAATACTTTTGAGAATTTTTGCATATAAACTCATGGGAGGTATTGGTCTACAGTTTTCTTTTTGAAAATACTGTCTTATACTGGTTAGTCACGGTAATACTGGCCTTAAAAAATGAGGCAGAAGATGCCCCTCACTATGTTATTTCCTGAAATAGATTGCATAAAATTGGTGTTATTTTTCTTCAAATGACTTTATAATTCATTGGTGGAACCATATCAGCCTGGAGATTTATTCCTCCAGACACTTCAAATTGCAAATTCAATCCTTTTAATGGGCATAGGGATACTCAGAGTATCTATTTTATCTAGCATGAGTTTTTGTAGCTTGTGGAGCTTTTTTGGAAGTTTTCCATTTCTTCCAAGTTTTTGAATTTATGAGTAATTGTTCATACCATCCCCCATAATATCTTTTTAATAGCTGAAGAATCTGTAGTAATACCCCCTGTTTTATTTCTATTATTATTTATTTGAGTATTCTCTTTTTATTTTTGCCAGTTTTGCTATAGGTTTACTAATGTTATTGGGTTTTTTCCCCCCAATGAACTAGCTGTTGGTTTCATTTATTTTCTTTATTTTTTGTTTTCAATTTCATTGATTTCTGATCTGTATTTATTATTTCCTTCTTTCTGCTTACTTTCCATTTATTTTGATCTTATTTTCCTAGTTATTGAAGTGGTAATATAGGTTATTTATCTGAGATATTTTCTAATTTTTAATGTAAATATTTAGCAGTATAAATTTCCCAGTAGTGCAGTAACTACATTCCATGAATTTTGATATGGTGTGTTTTTGCTTTTATTCAACTGTATGTCTTTTAAAATTTCCTTTGAGATTTCCTATTTAACTCATGGATTATTCAGAGTGTACTTTAATTTGCACTTGGATAGAAATTTTTCTGATATATTCCCATTATTGACTTCTAGTTTAAATTCATTGTGGTTAGAGAACACACACACTCACACAGTATTTTGGTTCTTTTGCATTTGTGGAGATTTTTTTTAACTAGGAAATATTTCTATTCAACACTAATAATGGAAGACCTAGCCAGTATCATTATACAATAAAAATGACACTGTTCACTGACAAATGATTGTTTACATAAGAAACCCTATAAATTTTACAAAAACACTGCTAGAAGTAATAAATAAATGTAACAAGGTTGCAATAATTGTGGCCCATAAACAAAATACAACTATATTTTTATATACTAGTAATACACAATTAGAAAATAAACTTTTGCTTCTTTTTAAAATTTTTAGTTTTAGATTTACATATAATAATTGTTTGAAACTGTAAGTTTCTCTCTTTCAAAAGATTGGAAAAATTTTCCACCATCATTGTATCAAATATTCATTCTTCCACACTTTCTTTTCTTCTTCTAAGGCCTTGGTGGTACTATTTTTGAATGAATCTCTTGTTATTGTCCACAGGTCTCCAAAGGATTGTTCATTTTCTTTTGGTATATTTTCTCTCTTTTGTACAGTCTAGGTGAATTCTATTAATATGTTTTCAAGTTCATTGATTCCCTCCTCTGACATTTCCATTCCACTATTGAGTTCATCCAGTGGGCTTTTAAAACTTTCTCTTACTATGTTTTTCAGTTCTATAATTTCAAGTTAGTCATTTTTATACCATATGCTATTTTACTAAACTTTTCTAGTTTTTATTTTTATTTGTTTTGAGAGCATCTGTAGTTGTTGGCTGAAATATTTTTACAACTGCTTTAAAATCTTTGTCAAATAGTTCTAATGCCTGTTTCTTCTTGTTGTTGGTGTCAGTTGATTGATTTTTCTCATTGAAGGTGATTTTTCTTATGATATAATTTTCAACTGTGCTCTGAAAATTATATCTGTTAGGCCAGGAGACTTTGAGTCCTATTTATTTATTTATTTATTTTATTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGTTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGTGATTACAGGTACCTGCCACCACGCCTAGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGTTGGTCTGGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCTTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTGTACTGGCTGGTCCTATTTAAATATTAAATATTTTATTTTAGCATGCTGTCAACCGGTTCAGATTCAACATGTGGGTCTTAGCCTACTCTTACGGGTTGTGGTTCCAATAGCAATTTAACATTCAGAAACTTTGCAGTGTTATTTTCCTCTGCTTGATTCTTCCAGTGCCCATAAGGCTCCCACTGTAGTCTGCTGGTGGTGCCTGTAGGGAAAAAGTGATTTTTCCAGGTATGGCAGTCAGATGTCTCTTGATGTGGGAGGGGTCTCACTTTAAGCTCCCTCCTCTCTTTCTCGGTGTCTCTGAGTGAGGGAGGAGAGTTTTGGGCTCACAGGATCAAAGAGGCTTCCAAAGCCTGATCACTTGATGTGACCAGGTCTTATTCTTTTCTGCCTGGCCGTCCCTGCGTCTGCACTGGGGAGAAGAATTTGGCAATTTTATATAAATTAAGCATCCACCTAATCTATGATCCAGAGTTCTATTCCTCTGTATCTACCAAAGATAAATAAAGATTTAGGGATGTGAATGCCCTTGAAATGACAAATGGATAAATAAACTATGACACATTCATATAATAGAATACTATTCAACAATAAGAAGAAACAGATGATGCATGCATGTGACAATAAGGATGATTCTTCAATGTATTCTGCTAAGTGAAAGAAGAAAGGTCCAAAGGCTATGCATCATGTGATTCAATTTATGTAATGCTGGAAAAGGCAAAACTGTCAGAAGGAAAGAAGATCAGTGGTTGTCTTGGATTGGACAAGGGGTTTCATATATAGGAGCAGCAAAGGGGAAATTTGAGGATGATGGAACAGTTTCATATAAAACTTTGGTGGCTGACACAGTTTTACAGACTCTTTTCATTTGTCAAAGAACAATTTACCATAAAAAATGAATTTCATTGACATAAATTTTTAAAAATCAACCAGGATGTGGGGAAAAGATTGAGTCCCCAGACTGTGATGATGAGTTAAACCATATTACAAATGAATTACATAAGCACAGTGAGGGCATGAGGAACAAAAGAGCTGACCTAAGTCATTTCAAAAAGCAGTGTTTTAAATGGTTACTGTAAGACTAAAGAAAAAAAGAACATAAACGAAGACTGCTTTTGTTGGCATATTTGTTTCCCAGAAGGGTTGGATTGAGAATTCTGGGCTGGGCACTGTGGCTCATGCCTGAGGTGGGAGGATCGCTTGAGGCCAGGAGTTCTAGACCAGCTTGGTCAACATAGCAAGCAAGACCTCAACTCTACAAAAAAAATAATAATAATTAACATGGTGTGGTGGCAGTGCCTGCAGTTCCAGCTACTTGGAAGGCTGAGGCTGCAGGATCACTTGAGCTCAGGAGTTCTAAGCTGCAGGGAGCTATGACTGAGCCACTGCACTCTAACCTGGGTGACCGAGCAAGATCCTGTCTGTAAAAAAATAAATAAATAAAAAGAATTCTGAAACCACTTTATTTGTATAGTAGTGTTGAATAAATAAGTAAATATATTTGAAACAATGGAAGCCAGGTTCTCCTTATTGTAAGAAGTTACAATAAGGAAAGAGATAAGTCTAAAATGGATTAAGTGATGCTGCATTGAAGTTTGAGAATCAATATGAACTCATGAGTGTGCATGTATGTGTGTGTGTGAATATATGAAAGTAGATGCAGAAGTAAATGTAGATGTATGTATACATGAGTTAGCATATATATCTCCGAGCCCTATCCACTGATAGGAACTAGATGCTCTGACACCCCGTGGCAATGAGCATGCCTTCTCTTCAGCTCGTGGTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGCTCGTGGTTTTTAATTACCATTCTCCAACAAAAGGAAAACATGGTTCTTTGCAGGTGTGGTTAATTCCAGGCCTGTGGCAGGGAAGCTTCACAAAGATTCTGTAACATCTTGTAGTGCCAGTAGGAAGGAAGTGCTAAAATAAAACAAAACAAATTAAGCCAGCAAAGGAAAAGCAAAATGGTTTGAGGGAGTGTCAAAAGAGCACAGGAGTAAACCTAAAAGGGCTCTAAGCCTAAAGAACAATGACCTTGCAGTCATGGAAAAGAATGAGATCATGCCCTTTGCAGGGACATGGATGAAGCTGGAAGCCATCATCCTCAGCAAACTAACACAGGAACAGAAAACCAAACAGCACATGTTCTCACTCATAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACACCCGGCGCCTGTCAGTGGGTGGGGGCAAGGAGAGGGAGAGCATTACAACAAATACGTAATGCATGCGGGGCTAAAACCTAGATGACGGGTTGATGGTTCAGCAAACCACCATGGCACATATATACCTATGTAACAAACCTGCACATTCTGCACATGAATCCTCGAACTTAAAAGTAAAATTTAAAAAATAAATAAATAAATAAGAGCAATGACCAAAGCATTCCCCATGAACAACTTGGACTAAAATGTAATGATCGTGTTGGAATATAATCCAAAGAATAAAATAAATGCCCAGGAATCCATCCAATGTAAATGGATAACTGAATACATAAATTAATAAAGAAGTGATCATTTTCCCTTTACATAAAAATTCCAGTCAGTAAGCGCAGAAGAAATTGGGGATATTCTAAAAACACCATTAGAACACTACAGGTACAGTTGTCATAGGCAAGATACATTGGTGAATTTTAAGTAGTGGGCAAATTTTAAGCAGACAGTATTTACAATATTCACAATAGCCAAGACATGGAATCAACCTAAGTGTTCATCAATGGATGAATGAATAAAGAAAAGGTGGTATATGTACACGATGGAACACTGTTTGGCCTGATAAATAAATCCTGTCATTTGTGACAACATGAATAAACCTAGGTGATATTATACAAAGTGAAATAAGTCAGATACAGAAAGACAAATACTGCATGATCTCACTTATACATGAAATCTAAAAAGTTGAATTCATAGAAGCAGAGAGTAGAATAGTGGTTATCAGAGGCTGGCGTGTGGGTAGAACTGAGAAAATGTTGGTCAAAGGTATAAAATTTCAGTTAGATGGGAGGAATAAGTTTAAGAGATCGCTTGTACTTTATTGTGACTACAGTTAATAACAGTATATAATATGCTTGAAAATTGCTGAGAGTAGATTTTAAGTGTGCTAATCATAAAAATATGAGGTAATATATATTAGTTAGCTTGATTTTTTAGCCATTTCACAATATCTACGTATATCAAAATGTTTTATAAATGATAAATATATATAATTTTTGTTCCTCAATTATAAACAGAGATAAAAAAGTAAAATCATTATAACAGAAACACAGAATACCTTTGATGGACTCATCAGTAGACTAAGCACAGCCAAGGAAAGAATCAATGAGTTTTAAGAAATGTAATAGAAACTTTCAAGACTGAAATGCATAGCGAAAAAGCAATTAAAACAATGGAACAAATTATCCAAGAACTATGGGACAATTGCAAAAGATGTAACATATACATAATGGTAATATGAGAAGGAGAAATAAGAGATATGGGAACAGAGAAAATTTTTGAGACAATAATGGCTGAGAATTCCCCAAATTAATGTCAGACACCAAGCCACAAATCCAGGAAGCTCAGGGAATGCCAAGTAGAATATATGCTGAGAAATCTACATGTAAGCATGTCATACCCAAGCTGCAGAAATTAAAAGACAAGGGGGAAGTATTGAAAGAAGTCAGAGGGTAAAAACCACCTTATCTATTGGGAAGCAAGGATAAAAATTACATCTGACTTTAGAAACCATGCAAGCAAGAAAACAGTGGAGTGAAATATTTAAGGTGCTTATAGGAATAACGAAAAAGCCTAGGATTCCACACTCAGAGTAATTATCTTTCAAAAGTTACAGAGAAATAAATAACTTTTATAGCCAAACAAAAATGAGGGAGTTTGCCTAGCAGGATATGTTTAAAAAGTTGTTCAGAGAGAAGGAAAATGACATAGGTTAAAAACTTTAATCTATATAAAGAAAGGAAGAGTATTAGGGAAGGAATAAATAAAGATGAAATGAAGCCTTTCATTTTTCTTTTTCTTAATGGATCTAACAGATAATAGTTTGTTCAAAGTAATAATAGTAAACAGTGAATTGTGTGGATGTAGCACAGAGATAAATGAAATGAATGACAGCAATTTTATAATGAGTAGGAAGGAGAAACTGTAAACACTCTATTTTAAAACCTTTAAAATGATTTAGCATATTTGGAGACGAACTTGGATTGTTGTAAATGTATGCTGCAAACTCTAGGGCAATCGCTGAAAAACATTTTAAAAGAGTAAAAATTGAGTCAGACAAAATGCTCAACTAAAACCAGATGAGGCAGAAAAAGAATGGGAGACAAAAAAAAAAAAAAAAAAAAGAAAGAAGCAGAAACAAAGATATTTAATAGAAAACAGTAAGAAACTTGTTAGATATTAATCCAATTATATCAGTAATCCCTTTAAATGTCAATGGTCTAAATACATCAATTAAAATAGTGTCCGAGTGAAGAAGAAAATAAGACGCAACTATATGTTGTCTACCAGAAACTCATTTTAACTATAAAAACACATATAGATAAAAGTAATAGAGTAGAGAAACATATGCATGCTAACGCTAATTAAAAGAAAACTGTGGTAGCTATATTAATTTCAGAAGGAACAGACTTCAGAGCAAGGAAAATAATCAGGGATAAAAATGTACATCACATCATGATAAAGGGGTTCCATCACCCAAACATCACAATTCTTAGTGTATGTGCACCTAAAAAGTGTCAAAATACATGAGGCAAAATATTATTAAATTTTGAGGACAAATAGATGGGTCTATTCTTATAGGTGGAGACTTAAATATTCTTCTATCAGTAATTGACAGACCCAGCAGGGAGGAAATCCATAAGAACATGGTTGAACTGAACAACACCATCAATCAACTGGATCTAATTGACACTTATAGAATACTTCATTCAACAACAGCAGAATACACAGTCCCCTCAATTTTACATGCTTACATTCATGAAATAGATCACATTCTGGACTATAAAACATACCTTGACAAATTTAAAAGAGTAAATGAAAACAAAGTGATACAATAACTATATTAGCTTTTCACAGCACTCAATTAATTAGTGGATGCAGGCACTGGGTATCATTAGTTGGTGACATCAAAACAGTGAAAACCAGCCACAATGTGAAAGGCCACAACATAAACAGTGAACTTTCAAAAGGACTGACCCTGAGTTTGACTGAGCCTCTGGATCCCACTGTTATTTGGTAGAAAATAGGGCAGGGATACATGCTGAGCTACATAACCAGTTTGAAATCCACGCATTAGAAGACTCTACAGGTAAAAGAGCCCAGACTCAACAGACAAATTGTATATTAAAAAAAGAAAAGGATGGAGGAGTAATCTCAAGATTGACTGAAAGATAAGTATATACCATAGCAAGCTGGCAAAATAGACATAACTGTACTATAGTGACTACTATCCTCACTTGGTAAGATTATGAAGAAAGGCAAGGAAATGTCTGTTACAAAAATCAATATAACATAGTTACATTTACAGGAAGCAATGTAATTTGGCTGGGGCATGATGGAGGGCTTTTGGGTTTGTTGCAAAGTTCTGTTTTTTGTTTGTTTTTGTTTTTTTTCTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCATGCCCGGCTAATTTTTTATATTTTTTTAGTAGAGACGGGGTTTCACCATTCACAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGTCACCGCGCCCGGCCAAAGTTCTGTTTCTTGACCTGGGTAGTTGTGACAAAGACATTTGCCTTATAATCATAATTAACTAATCTCTACATTTTTTTGGGTCTGGTTTTCTGTTTCATCTTAAAACAAAAAGATAAATAATAAATAATGCATACATAAATCCAAGGAAAAAAGTTAATGGGGCATGTGTTCTGGAAATCGAGGGAAGAAAACACATATGGAGCGGGGAGCAGAGTCTCCTGTCTCTGTGTTTTTCTGCACAAATCACACCCCACCCCACCCACCACCCAGTGGCCATCAGCAGGGATAGTCCCTCACAATAAGTTTCTCTAGCTTCCAGCTTGTTCAACTGTAGAGGGAGCAATGGTCAGATCCTACATGTTCTGTCCCTTGTTGAGTGTGTTTTGGGGTCTTTGTGCCTTGTGATATTCTGAATTCTCTCTCTATAATGCTGAATTAATTTTTTTCTCTATTTTTAGCATCTTATTGTTTGCCTATAAGAATTGCCAAGTCATTCAATCTTAAAACCATCAAGTTATTACATCTGAAGATTTCTGAGTCAATCTGAGAAGCATCATTATCTTATCCTTATTCTGTGCTCACTGTGCAAATGCTCGGCTATACCGATTATTGCCTAAGCAGTATCCATTATCTTTAAAAAGGACAAACAAAAATTAATCTCAATTTGGAATTTCAACTGTTCTGATAGATGCTATTTCTTCAATGAGCTGGAACTGTAGAATCGAATCCTCTAAGGAAGCCTCAGGTACATGAGTCTCGCAGCTGCAGATACAACCCTCTTCATTCATGGTCAAACAAGTTAAGGCTGGCTCTAGAAATGAACATTCCTTTGCACAATTGCTAGAGGTTCACATTTATGTTTTCTGTGTATTGATCACTAAAATAGAAAATCGGTGCCATCATATCAGAGAATCACTAAGTCATGGGTTTTGAATATCTACAGAATCATGGAATCTGAGATCTGCTGAGTCATGATATTTGAAAATTACGTTTGCACACAAGCCTTGATTTGCATTTTCAGGATATTAAAATCAAAACTGCAGAATCCCATAGTCATTCTCTTTGAAAACTTCAGCTTTGATTCAAACATTCTGCAGCTGCCAATTCATAAATTCTGAGAAATTAAGAGTCAGATTGAGATTGTACAATAGCAGACACATATTCCATTACTAAAGGAAGTCCCTGGAGGGACTAAGATATTCAAAGTGGTGAGAGAAAGAAATACTAATAATTTGTTCTATGTTAGCTACATATCACTACTTCATATAGGTCCTCCACTGTATGTGGTATTATCCCCATGTTAGAACTGAGGAAACCAAAGTTGAGGATGATTTGATATCAAGTAAGTTCATAGGTTCCAGAGCTAGGACTTCAACTGCACATCTATCAGAAGCCTTGATTGACAATCATGAAATCATGGAGAGAGTGAGAGGATCATGGAAAAGTCAGCCTCTGTCTGGCCAGGGTCCCATCCCAGCTGCCTGCAAAGTCTTCTAATCACTTGTACCCATGCTCCATTCAGGCAGAATAACAAGACCAGACCTTCAGCTAGCTCATAGGGTTTGCAAATGATTTTTGCTGATTTATTTGATGACTAAAGTACCCACACATCCTTACTCTTCCCCTGCTTGAATTCTGGGGCTATTCTGGGAAAGGGTCTAGGAGTGGATCCCAAATTTGTGGGTATGCAAGTTACAATCATCTGCTGATCTTCAGAAACTCCCCAAACCCTGGCCACATCCAGACAAGTTAAACCACAATCTCTGGGGAATGGAACTCCAACATGGGCATTTTTTAAGCCCTTCAGATGATTGCAATGGGAAGAAAAGTTTGAGAACAATGGGCTTATCCTGTTATTCCTGAAAAGCAGTGATTTCATATATGAATCACGTAAGGGAGGTTTTTAAAAAGCACTGAATCCCAGGCCCAGAACAATGGGGTTAGAATCTCTAGGAGGCTGGGCATGGGTGATTAACAAAAGCTCCTCATGCTGATCGGTGAAATTTCTGGAAGGTCAAGGCAGGAGCTCCTTGAATGGTTTAATCCTTTCCATATGGAACTCTGCAAACTAGGTTTCAGGGCTTTCCTCCCTGTTAGTCAAAAAATCATCTGCTTTTGCTTAACTAGTGAGGGTTGGGTTTCTGTCACTTGCAAGTTCTGGAATTGACCAAGCATCCTGGTTTGCCCGGTACTCTCCTGGTTTCAGCTCTACAAATCCCACATACCAGGAAACCCTTCGGTCCCAGACACATCTGGATGGTTTGTCACTCTACTTGTAATCAAAGTATTATGGTTATTTTCTTACTAGATTTATTGAGATGTCCTCTCTTTATCCTTCTAACCAGTGCTCATAAAACAACCACTACCAAGATTAACTACCTGGAACCCTGAGTACATGCCCCACATATATCCTGAGATGTCATCCCACCCATCACAGGCTCCCATTCTCCCTAAACAACTCCTTCTTCACTCCTGATCCTTACACAACACAACCCCTGCACCCTAATTCACTGACATTCCTAAGTCAGAACCACACTCTCAACTTTACCTCCACAAGCCATGTGAGGGGGTACATGGCTACCCCACCATGTGTGGCTCATAGCCATTGAAAACTGAAGCATGAAGCCCTCCCTCTAGCTATATGTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGGTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCAAGCTAATTTTTTGTATTTTCAATAGAGACGGGGTTTCACCTTGCTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGTGTGAGCCACTGCGCCCAGCCTAGCTATATGTTCTTATGCTTGACTGTGTCTTCTTGATCAAAGCTGGAGTCCACCTTCTAGAAAGTTAAGAAATCAAAGCAATGATTCATTGGGGCTTGCTTGCTTCATGGAACAGATTTTCTCACCCCACCTCACGTAAGTGGGAATATATTTTAAGGATTCATTTAAGAAAATGGAAAACAGGAATCTTAACCATGGGGTAGGTCTTCACAAGAACTCAGAGAAAACTGAACAACCAAGCTTCACTTCCAGGTCAGGAAGACCAGGCCGGCCACCAGGGAGACTTGAGTGGGATGGCATCCTGAGTGTTAATGCTGGAGACTGACATCCTCAGCAGTGGGAGTCCCAGGACCTCCACTCCAGGGTTCCGCTGGCAGATCACTCAGCTCTATGCTGTCTGTCCATTCCTCCCTGTGCGGAGCCACCTTCTGTTTGCCTACCAAGGAGCTCATTGCTACCAAACTTCTCACTTCAAATTCCAGACAGGTAGAACCTACCTTGCTCAACTGATATCCCTAACCCTGCCAGGGAAAATCTTTCCATTCCAGACCACACCTTAGACCCCTGTTAGTGTGGTTACCTTCAGCCCATCACCAGACTCTAGTCCATCAGCTATGAACTGGGAGTGGGGGTCATGACATGAGTACCTAAGGCTGTCCTCTTAGAAAGGTCTATATGGGCACAACCATGGGAAACCCTGTAATGGGCATGCCTAATAAGATAAAATCTTAGCACTGGATGAGTCCATGTGGATAACAGAATGCAACTCTAGCCTTTTAGGGATGAAGATAAGGTGCTATATATTGAAAAGAGTCAAAAATATTTGACCTTGGACCTCAGCTTCTTTTTACCAGTAGACCTTGTGCAATTTACATCACCTCTCTTGATCCTATCTGTAAAATTTCAGATGAGAATGCTTGCCTATTGTGTTTGTCATGAAGATTAATTTTTATAGTCTCCATAAGCACCTGGCATACAATAGGGCCTTCATAACTACTAGTTTCCAGTGTGGACTTAGGCACTTCATTCCCCTGTCTCTTTGTCCTCAGCCATCACGATGCATCATGACACAGCACAACAAGGGCTCTTCAATCAACTCTCAGTTCTACTTTGGATGGAACGCAAGCTGGTTGGATGTGGGCACCCAGCAGCCCTCCATCAATCTCCAGTCTCTTGTGTAATCCAAGCACATGATTTGAGATCCTCTACTTTAACCCCAGATCATCAATCTCAGGGCTAATGGAATATAGAAAAACGCTTTTCCCTGGAAGATTACTAAAAGGTCACAGTCTTGTTTTCCCCTGATAGATTTTCTGTCATATTACATAGTAATGTTCCACTGGGTGGCAAGATTACTGTCGTCCTGAGAATAATGGTCATCTCTGTAGCTGTATTATCCAACTCTCCAACTGGGCTGTGAATTTCTCCACAGATGACTTTTAGTCACTAGCATCCAATTTATAACTGGTTTTGTTTTCTAAAATTACAGATGGACTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGGTGAAAGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGTGCCAACATGGTAACACCCCGATTCTACTAAAAAATTACAAAAATTAGGCAGGCGTGGTGGGGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTACAGATGAACAAAATTAACTAGACTATATGCCCCAGTTTATGGCACACTTACCATCAGTCTGTACAAAGTTCCCTTTTTTCTTTCTTTTCTTCCCTCCTTTCTTTCCCTCGCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCTCCTCCTCCTATTTCTTGCTCTCTCTTTTCTTTCTCTCCTTCCATCCTTTCCTTCCTTCTTTTCTTTCTGTTAGTTATTTAATCCATCATTCCTTTTCCCATTCCACTCCCTACCCTGACCTTCACAATGTACATACATTCTATCTAAAGAGAATCTTTTCAAACCATTTTTATATATTCATGTAAATATATGTAGGATATAGAGTAGTTGTGTGTTCATGTGATTAATGTAAATAATGCTTTGTTTATTAGTCACACATATGTGGATATATATAAATCTAATTCCTTACATGGACCACTGTTGAGATCTAAACAGTGCAACACACATCCTTATCCATTTCTGTAAGGAAGGCTTTCAGATTAACCCCAGCTCTTTGCTCTCATAACCAAGGCTGAATGCATAATTTTGTAGAGGTCTCTCTGTGCTTACCACTGAGATTTTCTTTGTGGGATACATCCTGGAGAAGAATTCCCAGGTTAGGTGGCATACACATACATAATTTTTAATGATTGCCCTCCAGAATGGCTTCACTGGTTTTCAATTTCCAAAGTAAACAAAGGTTTCCATTTCTCCACATCCTCACTAGGATTTAACATGATCAAATTTTCTAATTTTGCCACTCTGATGTCAGTACGGCAATATGATGTTAGGAGTTGCATGTCTCAGATGGTGAGGTTAAGCATACATGCATCGGTTGGCAGGTATTCTGTCTGGTTTTCCACCTGAAGAGCTTTCTCATGTCCATGGTCCATTCTTTTTCTATTGGATGGTTGCCTTTTCCATACTGATTTGCAGAAGTACTTTGTGTGTTTTAGGCACTTAAAATAGTAGACCTCCATCTGTTATCTGTATGTTAACTTTACCTTGGCTACACAGAAATAAATTCTGAGTGAGTGATGTCCATCAATCCTTCCTTTCCGTGTGTGTGATTCTTGGATCTTGTTAAGGAGGATTTATCCAGCTGAGTTCACAAAGGAATTCTGCATCTTCACCCGTTAGTTTAGCAGATTTACTTTCTTTATAGAATTTTAACTTTTTCAATACTATTTTTGTTCACATGTAAGGTAGGAATCCAGTTTCATTTCACTCAGTGGGCACTCAGTCTGTTTATGCAACACCATTTATGCAGTAATAAACAAATTCTTGTGAATGGTAATGCAACCACCATCATACACTGTATCCCTGAATATATGGGTGGCTGTGCCTGCACTGCCCAGGCTATTCTATTACTCCTGTTCTAGTAGCACATTATTTTTTATTACAATAGTTTTGTACTATGTGTTATTTTAAGGTAGGATAACTGTCCAAACTTGTGCTTTATTTTCAGAATTTGTTTAGTAATTTACAAACTTCTAGAGCCATTGTTTCAATTTTCCTTAAAGAAGATTACTATAAAAATGAAGCCTGGTTATTAAAAGGAAGATTATTATGCAGAGTGCTATCTGGCAAAGTTATACCCAAAAATTAAAATGCAAATAAGTGGAATATCAATGAAAGGAATTGACATAAATGTACTAGATTTTTTTAATTATAAGAAACTTCTTTTAAACATGACAGATTAAGCCTATATTTAAAATTTCACTGAAATCAGAATAAAGAGAAAAAGTAAAGCATCAGTGGAAAAGGACAGAGCAAATAAGATGATATGAGATGTTACAAACTTTTAAAAGTGAGAAGCTCCATTAGTTTACTTTCACACTTTTAAAAGTTTGTAACATCTCTTAATGTTACAAACTAAGTCCACGGAAAGCTAAGTGCCTGTGGGGAGTGAGGCCAAGGAATAAAGCAGGATGCTTTTAAAAAGCACGCAGAAAAAAATTCTTGGAAATAAAAAAGTGTGATGGGAAAAACAAAATATTTGATTGAAGGGCCAGAGGATAGAGTGGAATTGTTCTCTCAGAAAGTTAAAGCAAAACAACAAATGAAGTATAAGGGAAAAGAATACCTCTGGAAGGGCCAATATCCAAATAATTACACTTCTGAAAGGCAAGGACAGATAAAAAGGAAGAAAAATGACAATGAAATAATACTAGAAAGTTTCTCAGATTCTCAGGGCATAAGCCTCCAGATTGAAAGGTCCCACTGCACACAGTGTAAGATGTGGAATCGCGTGAAACTAACCACTGTGGTATTTTGGAATATCAGGGGAAGAGGCAACATTATGGATTTTAAAAAGACGAATAAAAAAGGTGACTCGTGGAAATGACCTCAGACAATAAACAATGCCTTGACCTTCCTACTAAAGAAAAGATATATCCAATCCAGACTTCTGTATAACAGTCAGTCAATCTCATATGGGGACACAGTGAAGATGCTTTCAGCTAGGCCTCAAAGCGTGTGATTGCCAATTCTTGTGCACGCTTCCTTAAAAGTATTTGCTATACTAAAATGTGGCAGTAATAGAAGAAAGAGGTAAGTATGGGACCAAAAAAATTTCAGAAAACAATCAAAGAAGAATCCCCAGATGATGAAAAGAGAAAACTCTAGGATGACAGTTGGATGTTTCAACCACAAGAGCACAAGTAAACCAGATTAAGAATTCCATTTGAAGAGTATCTGGGAAAAAAATGGGATATTATTAATGGCTTGGAAGTACTCTCCTCTTAGAGAGTGAAGTATTTATTTTATATACATTTGAAAAACAATTTGATTTAAACATTTTTGACAACAATTTTATGAACAGCTATAGAGGACTAAATATAAAATTCTTAATGGATACAAAGATACAGTTAGATAGATGAAATAAGTTCCAGCATTTGACAATACAGTAGAAAAATTATAGTTAACAATAATTTATTACATATTTCAAAATAACTGAAAGATTTATAATACTCCCAACATGCACAAAAAAGATAAATGGTTGGGGTAATGGATGTCCCGATTGCCCTGATTTGATCATTACACATTGTATACAGGTACAAAATGTCACATGTACCTCAAAATATGTCCAACTATTATACACCAAGTTAAAAAAAACTAGATGAAGTAAAAAATTTTATGAAAAAGCTTAAAGTAACAAATTTGGTACCAAAAGAAAGAAAAATGTTACAAAGGCCAATAGCAAATAAAAATATTTAAATGGTGATCAAATTTTCTCCTTGCCCAGAAGCTGCCAACCCAGACAATATTACATGGGTAAATTCTACCAAACTGTCAAAGAATGTGTAACCCATATTTTAAATAATCTGTTATGGAAAACAGAACTTGAAGATGAGCTTCCAAACTCATTTAATGAAGTCAGTTCATAACCTTGCTACCAAAACAGAGCAAGTAAATTACAAGCAAAGAAAATGACAGACCGATTTCATGGGTGAACATACACTCAGAATCAGAAATGGAATAATGGAGTAGGCTAATTAAACCCGAGTGTATTTTTAAATTAATGAAACAAAATGATTGTGAAGCATTTATACCAGGAAAGCAAGAATGCCATCAGAAATGATTCAACATCATATTATTTTATTATCAGAAAAATCTACCAGTGTAATTTTTTTACGAGTGCAGATAAAGAAGAAACTTACATGGTTTTTTTCTCAATGCATTCTTACAAACATCTTTACAGTTAAATGCTATTTGCATTGGAAACCCATAGAAAAAGAGACTCAATAGACAAGCTGTAAGAACAACAAAGAGAATCTGGAGACATTTCCAGATCCAAGACCAGCATATAAAAATGAATGGTATCCCTTGAAACCAGTAATAACTGTTAAGAAAATGTAATAGACAGTAAGACTCAATTTACAATAGAAACAAAATCTCTAAAATATTTAGTAAAATCCAACAAAGAAATTCATGCAATCTGTATGGAAAAGAAAATCACACTATTAAATAACTGCTCTTTTTTCATTAAACTTTAAAAATGTTGGCATAATTTTAGATTCATATGTAATTGTAAGAAAGAATATGGAGATATGTTGTGTAGCCTTTGCCTAGTTTCTCCCAATGGTAACATCTCAAAAGTATATATTACCCCAATTTTACATGCATGTACTCATTTGTGTGTGTGTGTTTTGTTCTGTGCAATTTTATCACATGCATAAGTTATGCATCCTCCACCACAGTCAAGATACAGGACAGTTCCATCACTACAAGGCTCCCCCATACTGTCCTTTTACAGCCACACCCACCTGTCCACCCCCAACCTCCATCCCTTGCCCTTGGCACCTGCTAATCTGTTCTCTATTTCTATAATTTTGCCATCTAAAGGATAAAATGTAAATGGAATTATACACTATGTACTCTTTTAGGATTGTTTTTTCTTAAACTCAGCATAATTCCCTTAAGATCTGTCCAAGCTGTTTTGTGTTTATCAATGTCATTCTTTTTCATTGCTAAGTAGTCATCCACTGTAGTGATATATCGCAGTTATATTTAACCATTTTCCCATTGATGGATGTTTGGGTTGTTTCCAGTTTGGGGCTATTAAAAGTAAAGTAACTATGAACATGTGTCTACAGGTTTTTGTGTGAACATGAGTTTTCATTTATCTGGGATAGATGCCCAGGAGTGCAAGTGCTGTGTCTGTACTAATCATACATTTACTTTTATAAGAAATTGCCAAACTATTTTCTAGAGTACCTATGCCATTTTACATTACCACCAGCAATAAGGGCTAGTTTTTAATATAACAGCACAATTAAGGGTATGTTAATAAACCTGCAAACATTATGAAAGGGTACAAAGGTAAAAGTGCCTCTTACCTCATTTCCAATCACTACAATTAATGACTGCCAACAGTTATTTAATTGGCTTTTAGAACTGTTTTACCCAAATGAGATAATATTCTATGTTTCATAAACTTTGTTAATATGTAGTTTTTTGTGTGTATTCACTTATCTGTGTGTACATATTTATGTCCCTCTTTTAAGGTTACAAAGCATTCTAGTTCATGGGTATGCCATCCTTTATCCACTTGTCTCTTCATGATGGGTGCATTAGGCCATTTTTGCATTGCTATAAACAAATACCTGAGGCGGGATAATTTATGAAGAAAAGAAGTTTATTTGGCTCACAGTTCTGCAGGCTGTACAGGAAGTGTGGTGCTGGCATCTTCTTGGTTTCTGGTGAGGCCTCAGGAAGCTTACAGTCATGGCACAAGGCAAAGGGGAAGCTGGTGTTTCACATGGCAAGGGCAGCAGCTAGAGAGGGAGGGGAGATGCTACACTCTTTTGGATCCTGCAAGAATTCACTCACTATTGTGAAGACAGCATCAAGCCATGAGGGTTTTGCCCGCAGGACCCAAACACCTCTCACCAGGCACCACCTCCAACACTGGGGATTACATTTCAACATGAGATCTAGAGGGGACATACATTCAAACCACATCAATGGGCTTTAGGAAATGTGTTGTTCTTTTTTGTTAATGTAAACAAAACTGTAATAAATATTTTAACATATATCTTAAATGTATATATTACTCACTGTATTCTGTAGGCTAATTTATAAAATTATTGTGTTAAATAGGATGCAAATTCAAATTTTCATGTATATTCTCAATTCCTCTCCTAACAACCGTGCATGTGAGTGCACCTTTTCTTAGGCCCCTCAGACTTTGGCCTTCATCAAAATTCTTCATCTTTCCTTATTTGATGGGCTAAATGTGGAATCTCAACTTCAAGTCAAAGCAGCACTGAAAGAGCCTGTGCTGAAGGCTCCCTCTTCTCTAATCACATAGATAAAATATGCATGGGAATAAAACCTAAAAATGTGTAACCAGGCTGTAAAACAGGAAAAGCATATCTGTGGCTGAGAAATCTAGAAAAGCAGAAGGTGCAGAGCTGATGGAAGCCTCTGGCACCCAGGAAGAATGGGAAGTGAGCCATCTCAGTGCTTAAAATGACCTCCTGCCCCCACAGCCTCCTGCTCTTGAAGGGTGGGGAGAAGCTGCTGCTTCCTGGGACAGCTGGGAAGTGTGAACCCCAATTGGGAGCACTGAACCGTGACATGGACCTGGCCTCTGCTGACCTGGGGATGGTATATGCAATGCCCCCAGGTTCACAGAGAAACACACACTGGACTCAATAAGATGAAATGTGGTTTCGGACTGAGGGTCCAAGGATGTAGATATTGTCAGTTGCAAAATTGTTAGGTATAGTAGAATAGGGAGGAGAGGGACATGGAAAATAAAGTTCCCAAACACATAAGGAATTCTTATGCTAAGAAAGTCTAGCCTCTTCCCACAAAATGCCAATAAATAAAGCATATTTTCACTGAAAAAACTAATGAAAATAATAACATCATAAAAATAGGCAGCAGGGGCAACTAGTTCTGGAACCAAATGGAATGACAGAGTTCTCCCCATTTCTCCAGCTAAGCCCTGAACATTATACAGAAAACAAACATCAGATGCTGAAGGGGAGAGAGAAAAAGGGAGACCAACTAGGGATGTCAGGACAGAAAAATAACTCAGCAGCGAGCTCCCTGGGATTTATTTCTGCCTTGCATATTCCAAACACTGCCAACAGGTACAGACAAAACAAAAAGTCTCAACAAAAGCCTGCTTCCCTTGGCTAAGGACCAGGAAAGAGGCAACCTAGAAACAAAACAGGTGGAAATGAAATAAGATTAAGTGGACTCAAACAATTAAAAATAATAAAAGTGAAAACATATAGACAATGACATTTATAAACCTCAATGGACAGAATGAATACATTTTAGATGATTAATGAATTCAAAGTAAAAGTGAGGATCACCGATCATAGATCATAGTGAGGACCTTCTAAACAGGGAAATTTTTGAAAGTGAAAAGGGCATAGTAATTTCACAGGGACAACATGCAGGGACCAAACTATCCCATGCAAATAGGGAAATACAGTCCACACACCCACCACCAACCTCAGAGTTAGAGACAAATAAAAGTTAATGAAAGGACAGTGATTAGAAAGCAAAGGAAAAGTAAAAGTTTCCAACATAAATTTGGCTGGAATTTCAGAATAAGAAACCAAAGGAAATGGCAGAAAAGCAATTTTACAACAGAGAATTCAGATATTTTGTAAGGTAAGGGAGCTTTCAAATTAAAATTGACTAGGAGTATCAAGTGAGATAAATAAAAACATACACACCAAGGCATGTCTTAGTGAACCCAAAGATGGAAAAAAAAATCTTAAAAGCTTTTGAAGAGAAAAGATAAGGTAGCTACCTAGGAATGACAGAGAATGGTCATAGAGTTTGCAAAAGCAATTGTCAGAACATTGTGAATAATATCTTCAAAAGGACTGAATATAAACAAGTATCAAACGAGAATTTTATATACAGATTAAAAAATTTTTCAAGGGTTTTTGGAAGATGGTACAAGTAGCAGTATTGTTTTTGAATTTCTCTAGGCGCCCCCATGAACACACAGAAATGGAGACAGCAAAACACAAATTCAGTAGCTATCTCCTACGGTAAAGCTAGATAACCCAGTGTCCCTAAGAGCTCAAAACACAAGAGGAGAGATATGAACCACTGACCTCCAAAAGACATGCACGGCTCTGGCAGAAGAGAGAACAATGGTTGTCTGACAGGCCTGAGGCCTTCAGTATGACTGACTAGAAGGCAGGCCTGACTTTAAGGCCCTGCCACCAGTGCCCAGAAGGGGCTCTCACTGGGAAGTTAGTGATTGATCAGCAGTTGCTGTCTAGAAATTCTTAATGAGTTCATCTTTAAACTTGTCCAATAGTACATGGAGCATGCACCAGGGGTTTGGAGACTCAGCACCTGTGTGGCCCTGGGTCTCACTGCCTCCCTGCCTCTGCATAATGTGTTCTCAGCCCTCTGCTTCCCTGCCTCTGCCCAAGGACCTCAGCCACGCTTCATCTCCTGTGGGGACCTGGCACCAGGAGGCCTGGGGTTGGGCATGTGCGCCCCAATGAAGGGAACTGTGGATTGGGGCTTTGGGGCCTATAAAGGTTTGCACTCACCCCACAGGTATTCCTGGGCTCAAGTGAGTACAACATTAAACAGCAAATAAAAGTCACCAGAACAGGTTCGGAGAGAGATCACAGAAAAAAGGGAAAACATTTTTTCTTTCTTAATTTGAACAAGGGTTTTACATTTTTGTTTTACATTGGGTCTCACAAAAATTACATGGCAAGCCCAGTGTGATGGTTGATATTGAGTGTCAACTCGATTGGATTGAAGGATGCAAAGTATTGTTCCTGGGTGTGTCTGCGAGGGTGTTGCCAAAAGAGATTAACATTTGAGTCAGTGCACTGGGAGAGGTGGACCCACCTACCCTCAATCTGCATGGGCACCATCTAATTGGCTGCCAGCACAGCTAGAATAAATCAGGCAGAATTTGGAAGGACTTAGCTTTCTGAGTCTTCTGGCCTTCATCCTTCTCCTGTGCTGGATGCTTCCTGCCCTCCAACATCAGACTCCAAGTTCTTCGGCTTTTCAACTCTTGGACTTACACCAGTGATTTGCCAGGGGCTCTTGGGCCTTCAGCCACAGACTGAAGGCTGCACTGTCGGCTTCCCTACTTTTGAGGTTTTGGGACTAGGACTGGCTTCTTTGCTCCTCAGCTTGCAGACGGCCATTGTGGGATTTCACCTTGTGATCATGTGAATCAATACTCCTTAATAAACTCCCCTTCATATATACATCTATCCTATTAATTCTGTCTCTCTAGGGAACCCTGACTAATACACCCTGCCAATGGCTACTTTCTGGAAATCCCCAGAAGGCCAACTTTTGAAAGCAGCTGGAATTGGGAAGGATTTGCTCATTCTTAAAGCCAGGGAGAGCCAGAATATCTCAGAAAGGACAGCAGAGCAGACAAGGTCCTGAAAACGCTCAGTAATAATAAGCAAACCTCCCTTCAGGACAAAGCCCCAAAATAGGAGGAAACTGGAAGGGCAGAGTTCAAATTGAACTGGATGGAGATAACAATAGAGAAAACGGGAATTAAAATCCAGTTATGACTGGGGAGGCGAATAGAGTCAGACTCCTAGAAAGCAAAATGCCATGTTTTCGAACACTTTCTCAAAACAACAGGTCACTTGTGTTAGCAGTCACAATTCAATCAGAGAAGCAGCACCACTAGCATGTCTGTGTGCGTGTTTGTGTGCATGATTGTGTAACAGCAAATCTTAGGAGCTGCTTCACCAGCCTTTGAGAAGCTGTTATATTTGCCTCTGGAGCTGCAGTCTGGAGTTCACACCGAGGCAGTTAGCCAGGAAGGGAAGATGTCTGTACAGTGGGGAAGAGCAACAGCAAGCAGGAACTCACAAGCACATGTTGGAACCTTGTGAGGATGGGATGACATCTGGGTCAGACTTGCTGCCCCCGACATTAGTGGAAGTGGTATCCTGCAGAAGCTGTGGCTCTGTGTCATGGAGCTAAACACATGCTTGGCCCAGAAGATGCAGAAGCTGAAGGAAGATCCAGTGGAGGATGAAGCCCAGCCACTGCTTCACACCAAGAAAGTGAGTCAGCAGATCAGTTCCAATACCTGTAAGCTTCAAAATGGCTGGTGTTCCAGGTCTTCCTTCCAAAGCTCCCCCAAAAACCTCTCTAGTCGAGCCAAAAAAATACAGTGAAGGGAATTCTGAAAAACAGTTTGGCCTTGTCAAATAGGCACATTACAAAACTACCACAGTACTCGAGAGCTGTGATACAAGAAACGCTTCTAAATCATGCCTCCATTCTGAAAATTTAGAACTATAATGTCATGTAAAGATAGTAACAGGGAAATAAATCAAAGGAATGCAAACATTCTATGGAAAAAATGTTAAATGCTTGCCAGAACGACATTTTGATGAAAGGATTAAAAGTGTACCAACAGAGGGATACACTTTGATTGTTTATAGAAATCTATATCCTATAACTTTTAAAGTAATTGTCTAAGAAAATAGATGGAAAAAACAAAAGAACAGTGTAAATTAAATGATAGAATTCAGGGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTATTAAAAATACAAAAAATTAACTGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACCGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGAATTCAGGGAAAAATAAACTTAAAAACAGAATCTTATAAATAAACACAACAGAAATGCAAATAATCACAACATAGTGTCTTAAGAAAAGTGGAAAAAGAGGACAGTTTAAAAAAAATTTTTTAAAGATATGCCAAGAATTTGAGTGAAAGTGATAATATAAAAGACTACCACCCCAACCACAAAAAACACAACATACAGGTCCAAGAAGAAATCCCAAATAAGGGAAGAAAACAAGTACTAAGAATGGCATTTTGTTGAAAAAAATATTTTATAAACAAGAGATTTGAAACAATGAAATAATAAATTGCATACCTGGGAAAGTCAACTCAGAACAACCAACACCAAAACACAGTTAAAAAGAAAATGTCCTTTCTCTTTCTTTTTAAATATTTAGGGGAAAAAAAGGAAAAAAGTGATGTAAAACAAAGAGAAAATTAGCTTATCAGACTTTCAAGAGCAGCATTTTGTGCCAGAATAAAAGGAACATTATAAAGATACTCAACTTTTTAAAAAATGAGCTGAGGATTTTATATCCTAACAAACTGACTTTCAAGTATAAAGGGAGCAAACTGTCATCCATATGGAATAACATACAGAATATTTTCCATGGGCCCTTTCTTCATAATGTACTGAGAATGAGGTTTAAATAATGAACATTACTGGAGAGACAGTGGCATAAAGACTGGCTGAGCATTAAATATATATTTCCATGGAGAGCTAAGACGAAATCTGCGATATGAGGGAGAGTAGAGCATGTAATAGTTATATACTTTGACAATGGGTGGAAAGCAGAATTTTCTAAAAAGGGAAAGAGAAAATGGAAAAAGCATATGCAAAACAATTTTTAAATGCTTCTCTATAATCATGTTGGTGACAATGTTGCTATTGCTACTCTCCTTATGTTTTGCTTGAAATGTGAGATGAAGAAAATAAGCAATACATGTGTTATTTGAATCCCCAGGGCCCTTCAGAACCAAGACTTTTAGAAGCTGCAAGTGTGAAATAGAAAAGATTAAGTAAGCACTCTGAAATCCTAAATTTGAACTCATAGGATATTTTTCATAGATAGATAGGTATCCTAAATCTGTCCACTGACGAGGCCCAAAAATAACATTTGCAACTAAAAGGTACCAGAGTTTCTTAGAGAAATAGTTGAAATAGCTAATTCTAGGTCTGGGGTGGGAAATATAGAAAATAAACAGAGGAGCTCAGAATATCATCGTACCACAGAGAGCAAGGGCACCAGCCAAGACCAGCAGGATTGCGCTAAAGGAACTTGGGAGTCAACCTGTAGAACAGGCACTCACCAAACCATGGGGCAACTTGAGGATCAGTAAGGATAACGACCGTAATCAAAACACACCAAACAGGGTTCTCTGTGAGCTCATAATGATACACTGTATTAGTCCAGATCCACCAATATAGAATTAAATGTGAAAGGATTTTATTGGAGGAAAAGACCCTGTGGGAAAAAAGTAGGGCGCATGCTAGAGAAGTCTGGAGATCTATCAGACTGCAATGTGTATCTGATCCCAAGTGAAGGAGGGAGGGAGGAAACATGGCATTGAAGAGTCTTGGACTGCCAGGAAGAAAGGTTCAGCAGGAGCATTGAGAGCCCTTGAGCCCAAGTTGGTTGTCAGCAGAGTTCAGCATCTCTTAGGAACAGTTTTCCTGGGAACAAGAAGCAGGATGTTGTGAGACATGGCCTATCACAAATACTGGGATGGACTTTGTAGCTCCATAGCTGCGACTCTTGTTGAATTATGCTATCTGAAGTTGGCAGTTGGCATGGACACCTGGACACACACACACACACCCCTACCTGATTAGTTAACTTTATAGGACACTAAGGGACCAGGTATCTGTGTTAAAATCTCATAAATAAAGGGAACATGTATACTTCCTTTCCTGTGCAAACTACCACTCAGAAGCTAATGGCAGATGTGCGGATATCTTTAAAGGAAGAGGGAATGATAGAACTGGAGCATTGCCACTTTGCAACACCTACAAATCAAACAAATCTAAGTACTAGCTTCTAAGAATCTATTGCTACTAATTACAAAAAAAGAAAGATAAGGCCAGGCATAGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTTGAGATTGCCTGGCCAACATGGTGAAACCTCATCTCTACCAAAAATACAAAAATTAGCCGGGGATGGTGACGGGTGCCCATAATCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGCTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCGTCTCAAAAAAAAGAAAGAAAGAAAGATAAGTATATATTGTGTGCCTCTTGACAATGAACACAATGAACACAACAGCACCGATGGTGTAATCTTCCTCCCCAAAGTGAAATCTGAATCAGATTAAGTTTATAGATTCAACTACTAATCTGCAGGAAATCTAGAGGATAAATGAAACATTAAACTCTACCATGGGAATGCAATCAGCAGAATCAGCAGAATCTTGACTCTACAGGATTGGTTTCTAAAATGAAAAAAAAATCTTTCAGTTTAGGAAGATACAGAGAGAAATTTTTAAAAATCAGGCTAACCTAAACTCACTGTTTAGGGCTCCTCAACTAGATAATGAAATAATAATAAAGAGTAATAAGGGTATTTCCAGAAAAGCTAGAGCAGGAGTTAGTCTTGTTAGGGGAGGATGGTGCTTGTCTTGGGAAGGTGGCCTGAACCTTCTGTGGTTGCTGCCAAGTTCTCTCTAATTTATGGGTGGAGTTAAAGGGACATTTATTTTGTAATAACTCATCAAGTGGTACACTTGGTCTAAACTGCTTTCCGTTTTCCTTTATTCTGACAAAAAATACACAATTCAAATGGAAAATAAAGACATTTATAGACATACGATGGCAGAGAACTTACCATATAAAGAGACTCACTAAAAAGTAAAGATATATGTTTATAGAAAGAGTAAACGTAGGGGGAAAGAGAGTGAATTAAGAAACCATATGTTGATAAAATTAATTAACTATGCCTATATAAATTATACTGGTAATCTTAAGTAAATAGCAGATATAAAAAGTAACTTTCCAGCTGGGTGCGGTGCCTCACACCTGTAATCCTAACACTTTGGGAGGCCAAGGTGGGTGGATGGCCTGAGCTCAGGAGTTTGAAACCAGCCTGGGCAACACGGTGAAACCCGCCTCTAGTAAAATACAAAAAATTAGCCGGCACCTTGGCGTGCACCTGTAATCCCAGGTACTCGGGAGGCTAAGGCAGGAGAAATGCTAGAACCTGGGAGGTGGAGGTTTAAGTGAGCCGAGATCACGCCACTGCATTTTAGCCCGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAACGGAAAAGTAACTTTCCAGATCTAGTTCCAGGGAAGATGGGGTAAACACACCCTTTCCTACTGAATACAACCTATAAAACCTGAACAGAATGCATAGGCAGCAATTTGGGAACTCTGCAAAATAAACATCAGTAGGCAGATCAAAGGAAGAAACCATCAGAATACCATCAAAATACACATGAACTGCTGGCGAGTTTAATCTTTTTTTCCTTGCGTTATTTCCCAGTCTGAATTCAACGCAGTTAGAAAACCAGAACTAAGCACTGAGGTGCGGAAATAGAAACAACAGAAACTCTCTAGCTCAGGCTCAAAGACCAGAAAAGGGAAATGTAGAGAAAGAGAGAGAAATCCCCCATTTTTTCTCCCCATTTCCTCAGTTCTTGCACCCTAGCCCCAGGCAATTGTATAATGTGGGTAGCAGGAAGAGCAAAGACAGCCAGCAATGGAAAAACTGAAGGAGTTAAGTATCTGAGAGAGGGAATCTCCCTCTAGCATTTGGTGTGGCTATAGTTCCAAGAGGGTAGAGTCAATCCCAGGTGTTTCCATTTTTCTTTCTGTTCTGCACTGTATGGGCCCGGTATAGACTGTAATTATGGAACAGAGCAGTTTTTGGTCAGAGGACTGAAAAAGAGAAGGTCAGGAAACCAGAAAGTACTGGAGAGATAGCAGAGCGCAAGCTTGGGAAAGTGACCCCATAACACTGTTTATCAGCTCAAGGACTCACCTCTGACCTGTACATTCACGGTCCTGATCATAATCAGCACACTAAAGACTCTGAGAACTGAGATAGCCAGTAGACCTTTGCTCATTTTCCTAACTGACCACTAAGTAAGTGGTACAGGTCTAGGACAAATGTGAATATTACTGAAAGGCTTCGAAAACTGGCCTGATATGGGAACCACAGCCTACAGAAGGCTAAAACATAAATAGTAACACTTTTTATAGGATTTGAACAAAATTTAAACAAGAAGGGGCTCACAACATAATATTCAAAATGTGCAGTATAAAATCCAAAATTATATTGCATTTGAAGAATAAAACAAAAAAACCTTCAACTTTCATTAGAAAAGACAAGCAACAGACATCAATGATGAGATGTTGGCATTATCTAACACATCTTCAAAGTGGTATTAAAAAGTGCTCAGATAAGCAAACTTCTGAAACTTATGACTTGATTTTTCTGTTCATATGTTTCCATGGAAAAAATTACAAAATGAAGCCTTCTGACAGGGAAATATCAAGTTAGATGACTTCCCTGGTTAATTTTTCTAATAACTTTTGGAGAAAATATATACATAACACAAAGCTTACACACTTTCAGAATATAAAAAATGGGGAATAATTCCCAACTCATTTTATGAGGCCAGCATAATCTTGGTACCAAAATCTTACAAGCTTATTATTAAAATAAGAAAATATGAGGCATGTTTCCTTTGATAAAGATAAATGTAAAGTTCTAAGGAGATAATTGTGAAACAAATTCAACAATACTTTTAAAAATAATAACCAAATGTGTTACTTTTCAGAATTGCAAAATGGGAAGGAATGGGTAAACAGTGTGTCTGTAACTCATTCCTCCAGCCTCTGAGACAGTTTTAATTGTGACCCAAACTCCTAGCAAAGGACGGCTGATGAAACACACCAGCTACACCGTAAGTGAAACTTCAGCAAGGGTTGCTAGGTACAGACTATGGATCCAGGAGCACTTTCAGGACAAAACACCTAGCTTGTCTATAATATTTGTTATAAATAGATCTGCAATTTACGAGCTGCAGTTCTGCATTGGACAATAGAAGTTAGTCATGTAGCCAGTACAGGGCTGCCTGCCTTGGAGGATATAAAAGCTGAGTGATAACTAAACCCAGTTGCTTTCTTGCACTAACTTGTCCTCTATGCAGTTTGCACTCCTCACTCTGAAGGCAAAATTCACTCTGAGTAGAAAAAGGAGACACAGAGAGCTGAGTGTGAAGAGCTCAGGGTCTCCCAGATATTGAAGTGGTGCATGTTGCTGCTCTTGCTTGCATCTTTTACTAATCATTAGTAAAGCTTGGTGCTGAACAAGACTTGAATTTCATATAAATCTGATCAATAATGTAGATCTTTGTATTGTGTGTAGGGTTAACTCAACAATAAAAAGTCATTGCAATTCAAAATACTAATGAAAAAAGGATAAAAACAATCTCATCTTAATAGACACTTTACAAAGATGTAACTCTACCCTCATTTGTGATTTTTAAGGATTGTTATCTGAGTAGGAATAGAAGGGAATTTCCTCCTTGTGAAAAGGTTTATCTAAAAAATAAAATAACAAAACAGAACAACAAAAAACTATAGCTAACATTTTACTTAGTGGCTGTTGTGGGTTGAATTATGTCTCCAACAAAAGATATGTTGAAATCCTAGCCCCTAATACCTATGAATGTGACTTTATTTAGAAATAGGGTCTTTGCAGATGCAATCAAATTAAGATGAGGACATTAAGTTGGGGCCTAATCCAATATGACTGGTGTCCTTATAAGAAGAGGGAAATTTGAACACAGACACACAGGGAGAACAACAATGGAAGATGAAGGCAGAGATGGGAGAGACATAGCTGCCAGCCAACAAACATCCATGATGGCCAACCACCACCAGAAACTGTGAAGAGACGAGGAAAGTTCTCCCCAGAGTCTCAGCAGGGGCATGCTGACATCATGATTTCAGACTCCTAGCCTCCAGAACTGTAAGACAATACATTTATATGTTTTAAGCCACCGAGTTTTCAGTACTTTGTTATGGAAGTGCTAGGAAACGAATATAGTGGTGAATTATTGAAGGCCTTCTGCCTGAGACCAGAAATGAGACAAAGCAGTATGCTATGACTTCTACTCAGTATTGAATTTGATGGTCCCAGCTAGTGTCATAGTGAGTGAAACAGGCCAAGAAAAAGAAATAGATGAATAAGGATTGGGACGGATAATCTACAGAAAAACCATTATAATCAATAGGAGAGTTTAGAACTTCACTGGATAAAAGACCAATATGCAAATATCATGTATATTTCTATACATGCAACAGTTTTAAAATTAAATGTAAAAAATCTGTCATTTTAATAGCATCAAAAGACACCAATGTCTATGAATAATTCTTATGAAAGTGTGCCAAAATACCTGTGTTGAAGACTACAAAATATTATTGTGAGAAATTAAACAAGATCTAAATAAGTGGAAGAAAACATCACGTTTGTATATTACAGGACTCAGTAAAGACATCAATCCTTCCCAAGTTGATCTAAAAATTCTATAGAATCCCAGTAAAGTTAATATAAAATAAATTATTTTATTCTATTAAAATGAAAAGGGTCAAGAATATTCAAGACAATCTTGAAGAAATACTAAAAAGGAGGAAAATTAACACTACCATGTATAAAGAGCTACTATAATGCTATAGTCATTAAAAGAGTGTGATATTGGTGCAAGTCTAAGCAAATAGACTGGACCCACATATATACACTGTTATGTGATGCACAAAGGTGACATGGCAATGCAGGAAGAAAGATTACTTTTTCATTAAGTGGTATAGAGTCAATTTAATATTCATATAAGACAATGAATCCCTATTCCTACCATACTTCATAGCATACACAAAATTTAATTCTAGATGGGTGACAAATATCAACATGAAAGGTAAGACCATAAAACTCTAGGAAGACATAGGATGTTACCTTCACGACCTTGGGGTAGACAAAGAGATCTAAAGCACAACACAAAAAATGCAAACTGTGATTGGAAGCGTTGATAAATTGGACTACACTGAGATTAAGAATATCTATTCACCAAAAGATACCATTAAGAAAGTTAAATGAAGCCAGAGTTCTAAAAATTATGTTCAATATCAATGTCTGACAAAGGACTCCTTCTGAATGAAGAATTAATTCCTACAAATAAATAAGAAAAAGGCAGACAACACAATAGAAAAATGGACAAAAAACCCTGAAAAATCAGTTCACAAAGGATATCCAAAATAACAATAAACACATGAAAAGCTGCTCCACTTCTTTAGTCATCAGGGAAATGCAAATTAAAAGCCACATTGAGATCAAATTACCCATAAGCCAAAAAAATCTGAAATTAAGTCAAAGACAAGTGGATGAATTATGTGAGGCAACTAGATCACTCATACATTGTGCTGGGAGTGTAATTAGAACAAATATTTTGAGAGACTGACAATATCTAAGAATAGTATATATCTAGAAAAAACTGTGCTGTTTTGGAAACAGAAAAGCACAATTTGAAGTAAATCATCGGTCAAAGAAGAAATCACAAAGAAGTTAGAAAATATTTTGAACTGGAGGTTATGAATATAGAACATATCAAAATTAGGAGGAGGCAACTAAAGTAGTGTTTAGATGGAAATTTGCATATTTAAATGCTTACATTTGAAATGAATCTAAAATCAGCAACCTCAGTTTACACTTCAAGAAGTTTGTAAAAAATGAGCAAATTAAACCCCAAATAAGTAGAAGGTAATAAGAAACACAAGAATAGAAATCACTGAAATTTCAAAAAAAAAATTGAGAAAAAGCAAAAAGTTGTACCATGAAAAGATTAGTAATATCGTTAAACCTTAGTAAGTGTAATCAAGAACAAACAGGAGAAAACACAAATTCCTTGAAACAGTAATGAAGAGGAGGTATCACCACATAGCCTATATATATACATAAGGTAATAAAGGCACATAATAAACAACTTTATGTCAATAAATGCAATAACTTAAATGAAATAAACACATTTGTAAAAAAAAATACAATTTAGTAAGCTTTTCCCAAGAAGAAATAGAAACTGAATTGTACTACATATCTATTAAAAATTGGGTTAACGTTAAGAAAATAATCTTTCCACAAAAACTCCAGACACAGATAGTTCCACTAGTTAGTTTCATCAAACATTTAAGAAACAAATTATATCTTGCACAAACTATTTCAGAAAGTAGAGGAGGAGGAAGCATAAGATCTTCTACCAAAATTAGATGATAAAATTACAAGAAATGAAAATGATGGAGCAATATCCTTCATGGATATACATAGAAAATTCTTTTAAAATCTACTAACAAATTAAATTCAGCAGTAATCAAATCCATGACCAAGTGAATTTGTGGTTTGATGTCTTTTGTAAATATTGAAAAGTTCTCAGAATTTATTCTTTGAATAGTGCTTTTGTCTTACATTGACTCTCCATTTAATGAAAGGATCTTTTATATCTGAAAGACCTGGGGAGGAAGGTAGCCACCCAGCAAAGTCATCTGAACTTTTTGATTGTGGTGTGAGGGAGAAAGAAACTTTCATTGTGGTAAGCCAATGAGAATTGAGGATTATCACTGCAATGGACATCACCCACTATGATAACTAGCTTTACCATTTTAAACGTACAAATTTTATTTATTTTTATTATTTTTATTTATTTATTTATTTTGAGATGGAGTCTCGCTCTGTTGCCCTGCTAGTGTGCAATGGCATGATCTGGGCTCACCACAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGTGCCTGCCACCATGCCCGATTAATATTTGTATTTTCAGTAGAGACGGGGTTTGGCCACGTTGGCCAGGTTGGTCTCGAACTCGTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAAGTGGTGGGATTACAGGTGTGAGCCACTGCACCCGGCCACAAATTTTATAGTTTATTTTTCAGTGTCCTATTATCTCAAATTGTGAGGCACACATTTTCCTGTTTACTCTGCCTACTGACTTTCCCTAATTGACGATGGCCTAGGATGATGTAGAGTTTGTTTCCTTGAATGGTTTATATTTTTTATTTTGAACTGATTTTCATGGATATTGCGATTTGGGGGCATTTTTTGGAGTCCCATGTGTGTAAAGTTACTAAATCTTCCTCCGGAGGAATTCTTGAATTCTAAACCATATAATACACATTTGGACTCCACACCTAAGCCTAATGCACTTTTTGGTTTTTAAATGTGTAATTATCTTTTTCCCCCTATCCGGAGCCCAAGCAGAAAACATGCTTCCTTCCACTTCCCTGGCTAATGGTTGAGGTTTCCTGGTCTTTTTTACACTGGAAAGGAGATTACACCAATTTCTGGATTTATGTGAATATCTCAGTTCCAGTTCCCCACCTCTCATAGGCCCCAAGCCCAAGGTCACCTTACCTCCTGAGAGTGTGTTAAAATTTCCCTCTTACCCATAGAATCTATATTTTTGGTATGCCCAGGCATGTATTCACATCCTGCTATGTTTTATTTGCTGTTTTTTTTTTGTTTTTTTTTGTTTTTTTTTTTTTTGCTTTGGGAACGGGAGTGAGTGTAGAACCTATACAGTCCCGTCAGCTCTATTCCAAGAATGTTCTGCTCTTTTCTTCGTTTCACAAATGAAAAACCTGAGTCCCATAGATGGGAGTCAATACAGCCAAACTCACAGACCTACCTATGGCACAGGGGAGACTGAAGTTTATTTTCCAACTTCCAGCAGTCCTACATTGTAAGCTGAGTGAGTGGACTGCGCTTGCAGGTCCTCCAGGTGCCTAGCGAGAACAGAGGACAAATAAATATTTACGAATTGCTTGTCTCACCTGAAAATGGTTTATTTCTAGGTTTCTGATATTATGGGGTGCAATGGCGGTAAAGAAGCAGTTCTGGTTTCAGGAATGTGATCCTGATAGCCATACTCCAGAAAAAATCAATAAATTCCCTTGGCCCCATGGGCTCATGCTCTTCTAGAAGGGAAGACAGGGCTCTTAGGTACTTTCAGCGCTCGTAGAAGAGTGTTGTTACAGTCCCATGACCAGTGCAGGGGATGTGCCACTGAGAATCTTTTCACTGATGCTTCATGGGCTTTCTCTATTCTGCTACTGGGTTTTATTTCCCTTCTTCTAATTCTCCCTTTACCAACAACTAATCCCCTGTAGATAATTAATTCATCAAGTGCCTGCTCTGTGATGTCCGGACTGCTAGAAGTGGTAGGGGGACTCAAGAGCCAGATGAAGCTAAGGGCACGCCTGTCTGCTCTCCAGGGACCCCTGGCGTCCCTTTCTCCTGGCAGAATGACTGCTATCCTTTGAGGTGAATCCAGTTCAGCTGTCACCTCTTCTATTAACCACTCTCCAAAAACAGCTAATCCTTCTTCTAGGCTCTTACCGCAGTTATGAAAGCCTATGCTGACCCTTTGTTTAAACATGTGTACATTAACAGTAATACATTTAAGACACTTCATGGCAAGGGCAATATACTGCGTTATTCTTCCAAATCAAATAGTTGGGCTCAGTCCCCCATTCCTGCTACTGGGGTACAGTCAAGCTCAGTCACCTTTTGGTGAGCCTTTCCCTAGTTCTTGGAGTCTTAAAAGAATCCCGTGGTTTTCGGCAGTTCAGAAACCCAGGCATTGCCGCTGCGTGGTCCACGGGAGTTGCTCTGGTGGAGCTCGGATGCCCGGGGGCTGCAGGAAAGAAGGTGGCAGCGCCCCCTACGCGGACGCAGGGCGCTGCTGTGCTCAGCAGAAGGGAGCAAATGGGATGGAGCTTCAGCCACCCTGGAAGCCGCCCCTTGGCGCCTTCCTCCCTCCCTTCCTCTTTCCAAAATCAAGCCCCCTCTTCAACATCAAGAACTCTCCGCACTCCCTGGACCTCTCAGAGCCTCTCCTCATTTACTCTTTCCAATGCGCTGGCTCAAAAGAGCCTAGATAAGAACACCAAGTTCTGGCTGTCCTTCCAGCAAAGAGTTAGGAGTTAACTTTTCAATCTTTTTTAATCTCCTTTAAAAAAGAATGAGCCATACATTAGGGTAACCACTGGGAATCCCATCACACACATTGGCGGCATCTCTCCTCCCCGACAGGGTGCCTCCAGCACTTCAGATCCCAGCCGAGAGTCTGGCTGCTGGCGCCCAGCAAACGGTGCGGAAAGCAAACCGGGGCTCGCGGAAAGCGGGAGGAGGGGGGCTTCCTCGGGTCTGTTTTGTCTGGTTGGCAAGACTTCCGAAGCCTGGTTCCCTATAGCTGCCACCCGGTCGCTGGCGTGGAGGAGGGAGTCCGGGAAGACTGGACCCCAGAATTGTCCCGGCTTTCTCCCGAGTGCCCAGCGCAGCTTCTGGCTGAGAGCGGGAGCGGGCTGAGTGGGGACAAAGAACGCAAGGGAGAGGTAGAGCCTGGCCTTGGGCAGCCCCTGGCCTGGCCAGAGGCGCGAGGCCGAGAGCCCGCTCGGTGGAGACTGGGGGTGGAGGTGCCCGGAGCGTACCCAGCGCCGGGAGTACCTCCCGCTCACACCTCGGGCTGCAGTTCCCTGGGTGGCCGCCGAGACGCTGGCCCGGGCTGGAGGGATGGGGGGGCGGGGACGGGGGCGGGGGCGGGGCTCGTCACGTGGAGAGGCGCGCGGGGGCGGGCGGGGCGGGGGCGCGCGCCCGGCTCCTTAAAGGCGCGCGAGCCGAGCGGCGAGGTGCCTCTGTGGCCGCAGGCGCAGGCCCGGGCGACAGCCGAGACGTGGAGCGCGCCGGCTCGCTGCAGCTCCGGGACTCAACATGCGCTGCTCGCCGGGAGGCGTCTGGCTGGCGCTGGCCGCGTCGCTCCTGCACGGTAAAGCCACTGCCTCCCCGCCCTCCACTCCTCCGTGGGATCCCGGGCACATCCCGGGCGCCTCTGTGCGCCCCGCGCCTGGGCCAGGTTTGGGATCTCCCCGCCGCCGGGGAGGGGCAGCGGGGGCGCTGCGGGGGCTGCTTGTCTGGGCTGCACCGGGTGGGCGGCGGGGGACGCCGGCAGGAGGGAGTCGGGGGTACCCCCGCCGGCCTGCCCTGAGCCCCCTGCCCGGGTCTTCTCTCCTTAAGTGTCCCTGCAAGGCGAGTTCCAGAGGAAGCTTTACAAGGAGCTGGTCAAGAACTACAATCCCTTGGAGAGGCCCGTGGCCAATGACTCGCAACCACTCACCGTCTACTTCTCCCTGAGCCTCCTGCAGATCATGGACGTGGTGAGTCCCGCCTGGCTACAGGGCTGCCCTCTCCCCTTCCTGGGCTCCGAGGGGCTTTTTAGACAGCGTCGGGCGGCCAGGCGGTGGAGCTCGGCTGGGGCACTCTAGTTGGCCCCAAGCTAGGCAGGGCCATGCTCTGAGTCTGTCCCCAGCCTGCCCTCTCCTGAGTGTCTCATTTCTCGGTTTCCCCTCCAGCCAAGGAGGGACCTGGTAAAGCTTATTCCATCACCCTGGCCACCTGTGCATGGTTACTTGGGTCCCACCTTTCTCTCAGGTTAGAAACTCAAGCATCCTGAGCTGGGACTCAGTAGCAAGAACAGGTGAAGTTCACTTTTTAATCTCCCTTATGGTGTAAGTGTTGACTTGCATTCCAGCATTGTCAATTTAGCCACTTCTAGACTTTTCTGCCGCCTATGGTATGTAACTTCTTTGGTGGGGGCCTGGCCCTGAGCTTTGCAGCTGGCGAATCTATCCAGGCAGAGGGCAAGAGGGCCAGCTGTGAACTTTCACTGTGACCCCATCTTAGGAATGGGCATGCTTTGCCTTCCTGGTGAGGACAGGTACTGGGAGTCCTGCTCCGAGGACTCAGGGTTCCCCGTCAGGAATACATGTGTCTGTCCCTCCAGGCAGCTGCCATCAGTTCCGTGGGTCTCTTGCCTTGCAGCCTTGCTAGTGCCCACTTCAGTTAGCCAATCTGTGTAAACTTGCCTATTGTTCCTCTATGCTGCTTTGGATATTCAATATTCATGGTATATTCTCCATACAATACAAATACTTCACACAAGTGTTTAATTCATTATAAGTGGGTTTGGTGTCTTGTCTATACGGAGTATCGGATTCTATTGTGGAGCACCCTGGAGTGTGGCAGGGTGGGGCACAGGGATAATAATGTTCATTGGGAGGGAGAGCATGATGGGAAAGAGGTGAGAGAATAGCCACAATTACTGGTTAAAAAAGAAATAGTGCTAAGAGCTACCTGGCAAAGTGGAAAAAGGTAAGAGGTGATATTTCATAATCCTACAAATAAACAGTTACCCGCACTATCATGTTGATGAATGGTATATCACTTAACCTAGTTAAAATTGCCATCATACATTGCCTCCTTTCCAACGCTACACTCGCCTCAAATGTGTTCTTCCTCCTACAGACAGAATCATGCTTTAAAATATTGAATGTATATGTGATGATGTGGAAAAGTTATCATGAGAAGAGCTGTAGGGGAAGGCAGGTTCAGTCTCATGTGTTGCAGAGCAGCAAAAGTTGCTGTTTATGGAGCAGTTCCTCAGTTGCTTTAAAGAGCTCAGGATTTGTACTTGGGATCTTCGGTGGGTTCTGTCTGTGTTGGTTTCTGGATGGCTGCTGTTAGGTAAGTTTCTTAAGCATCTTGAGCCTTGGCTTTCCGGCTAATAAAATGCACACTGTCAGTCATTGTGATCAACTAAAGAATATGGAAACAACTTGAAGAGACCTTAAAGCTAGATATGTGATTATGGTCATTTTCATGCAGAAACCACATGAAAAAGGACCAGGCAGCAGAGCTAACACACCCCGCAAGTGGTGTGTGACAGGGTGAGAAAGGGACAGTAGCCCCCTCTTCCCCCATTTGTCCAGGGTCAACTCCAGCCAGGCTGTCACACTGTTTGTGTCTGCTCCACAGCTGTCTCTCTTGGAGTGGGTGACCCTGTATTGCCTGGATGGGGGTGATGGTGTAGTAGCCCCTCAGTAGAGGAACAGGAGGAAGTCAGTAGAACAGGCTCCTGAGGTTGCAAAGGCTGCGGCAGCACCTTTTGGAGAAGAGACCACTCGCGGAGAAGCTGCAGGCTTTCTTCTGGGAACTTCTTCTTTAAGAGACTCTTAAGAAACCAAGTTATTATGAGGAGCTCTGAGTCTTAGGAGAAGTTTAGGCATAAGTTAGTGTTATACTACATGAACATTTAAAATAACTTTTGTCATGTTAGAAAATTACAAAAATAGCACATTGGCACTTTGTGTCAATGACATTCCAGTGTCCTTAGGAAATGCATGTGAAGAAGGCTGTCAGCAGCCAGAGGTCATGGGAAGGGGGCGGGAGAAAGTTTATCTCTCACCTTAGCCGTGGTATTGGCTGTGAACACATTGAACTTCCCAGCCAGGCAATGCTATGTTCATGGAGTGGCCTTGAACAAACTCACTTACCTTTCTAAGCTCTGTTTTCTCATGTGTTAAATGAGAATAATAATACCTGCTTCAGAGGGTTTTGAGAGGATTAAATGAGAGAAAGTGCTTGCCCACACTGGTGATTCACTGAAGGTCTGCTCCATCTTAATTATGTAACTACTCAACTCAGAGGTCAAGAAGTCCATGCCTAGAAGGGTGTGGTCACATGCCCAAGGTCACTCTGTGATTAGAGGTAGGGCTATGAGGAAAACCAACATCGGACAAGTCCTTTGTCTTTCATCTGCTGCTTCCTTTAGACTTGGTAACTTCGGCAGAACAAAGTCATTTAATTTATTTAAACTGGGTGAATTGTAACTAATTTAATGTGACTTTCCTGAGATCCTGGATGAAGCCGAAGTCTCTATCAGACATAACAAAATATGCAAACATTTGTATTCCAGCCTTACTTGGCTCTGCCTGGTTTTTGAAGCAGAGCCAGGTCTCTCCAGCTGAAATCTCAGCGCTCTGGACAGAGACACAATGGTTCTCATAAAGGCTTCGTGTGGCAAAATCTTGGCTGGTATAGATTCTCTTTACACATTTGTTGCCCATTTTAACTGGACTGTTCTAGAGACCATAGTAGTTGGTTTTCCTACTCCCAAATATTGTTATTGATTGCTTTTGTTTGTCAGCAGAGATTCCTGACTGGAGTGATAGGAAGACACCATATGATGTTACATATTTGATTTTTGTGAAAGATCATTTACTCTTTAATCAATTTATTCCACACATGCTATTGAGCTCCTGTTGTAGACTTTGACAAATTCTGAGAATTAACAGAAAGATGAGGGATTATTTTTCCTTTCAGAGATCTCATGAGCTGGCTAGGGAGATTAAAAAGTAAATCCAAAATTACATGTGATGAAATTTAACATAAATATCTATACAAAGTGCTAGAAAACATTGTGTTCAACTAGAGCAGCTGAGAGTGGCTTCAAAGAGATGGTGGTTAGAGTTCTAAAGATGAGAAGGAGTTTGCCACTGAAAGTAGGAAATCTTTTCCAGGTTGAGGAAAGACTGAAAGTGCAGTGGAGGACAGCTCACTTTCAACAAGGTGTGTTTTATGGGACACTGGCAACCTGTTGATCTTTACTACAGGTTTTGCTGCAAGACTTCTCAGAAAATTTATGCTATGTTTTTTGAGACATTCTAAAAGACCAATATAGTACTGACCAAACTACTGATAGTTTTATAGACCCTTTTGTAAGAATTATATGCTCTAGAAGCACACCTTACAAGGGGGAGGCTATGATTTTTCTTTGGTAGGAGGTGCTAGATGAGTGTGGGGACAGTAAGGTTGCAGTGTGTGAGGCGTCCTGAGTTCCTCTGCAAGTTTGCATTTCACCTGGCCCTAGTCTAGGCATCTCTGAGGGCATGAGGAGGCAGTGTGCCAGGGGTTTTGTGAAGCTGTAAGACCAGCCTGCCATAGCATATTTTCCTAGAAAAGGAAATAGTCCAAACCATGATATTTGTATTAAATTCAAGTATAAATTATAGATTGGAGTGAAAAAACTTTGCATACATTTTAGAGGTACAACATGAGTCCTCAAAGGAATTGCTTGACCTGCTGTTATTCAACAGGCTCCTTCATGAAGCACTAGGCAGAGGGGGAAGATATGGTGGGTCGTTAAACAGGGGAGGGAAGTAACCGAATCTCTGCTTAAGCAGAAGATGCTGAGAGCAGTGAGTGTGAGACGGGTCAGAGAGGAGAGAAAGGTAACGGACAAGGAGGTTGAAACTAGGATGGCCACTGTGGGAATGTGGAGAAGGGGGCAGATTTAAGAGATGTTTTGGATATATTGTCTATGATCTATAACTGTGTGTATAAACATCATGAATATACATCAATAAATTTGCTAAGTGAAAGTGCCTAAATTATTCTTATATGCACACACTGACTTCTGGTGATTATTAATTTACTTCCTGGGCTTGTAACTGGGCTGGGAATGAGATAATACATAAGAAATCATTTTGAAGTGATGCATGTGTGAGGTTCTAATCTGCCAAGTTTCCATAATGTTTCTTTCTCCTTTATTTGTGCTGTTTAGTCAGTCACCTGAGCACATGCATCTGAAGGCCATTCTAAGTGATTTGCATAAAATAAATATGCATTGGTTATGAAGCATGTCCAGAAGTCAAGTTTGTTAATAATATGAACCAACATGTAATTATATACAAATGTAAAACACATAATTATACAAGATTGACTATTTTGGTATTTTATTGATTTGAAATGCAGACTCAGCTTTTTGGAAGCTTTAGTCACAAGACCGTAGAACTAAGTGGTCATGCACTTACGTTTTGGCACTGAAGATGGCAGGCAGGGCTGTGGAGCCCAGTATCCTAAGGGCTTATGTGTTATCTGAATTCCTTTGGGGGGCCCTCTGTGTAGGTTTGCAATATGTATGATTTTACATTCATTAGCCACTATTTAAAATGCTACAACTCCAACAAAATACTGTCAAATATTATAAAACCCACATACCTAGAATATATTGTAAAAAGAAATGCTGAAGGTATAATCAGGTATTGATCTTTATCATTTAAAAAAATCTTTACTTTTTTGAGCAGTTTTAGCTTCACAGCAAAATGAAGAAGAAGGTACAGAGATTTCCCACAGCTTCCTCAATTATCAACATTCCCCACTAGAGTAGTATATTTGTTACGACTGATGAACTTACATTGACACATCATCATCACCCCAAATGCATAGTTTATAAGAAGGTTCCCTCTTGGTTTTGTATAATCTATGGGTTTGGGCAAATGTATAATGGCATAATGTGTAATACCCTCATTATGGTATCATACAGAGTATTTTTACTCTCCTGAAATTTCTTTGTGCTCTCCCTGCTTATCACTACCTTCACCACAGCTCTTGGCAGCCGCTGACCTTTTGTTGTCTCCATAGTTGAACCCTTTCCACAATGTCGTATGGTTGGAATCATACAGTCTGTAGCCTTTTCAGATGGACTTATTTCACTTAGTAATATGCATTTATGCTCTCTCCATACTCTTTCATGGCTTGATAGCTCACTCCTTTTTAGCACTGAATAATATGCCAGTGGTCTGGATGTAGCACAGTTCATTTATCCATTCACCTCCGGAAGAACATCTTGGTTGCCTCCAAGTTTTGGCAATTATGAGTAAAGCTGCTGTAAGCATCTTGTGCAGATTTTTACGTGAACATAAGGTTTCAATCACTTGTGTAAATACCAACGAGGGCACTTGCTGGTTCGTATGCTAAGAGTATGTTTAATTTTCTAAGGAAATCACAGACTATCTCCCAAAGTGGATGTACCATTTTACATTCTCACCAGCAATGAATGAGAGCCCCTGTTGCCCTTTATCCATGTCAGCATTTGGTGTTGTCAGTGTTCTAAGTTTTAAGCATTCCAATAGGTGTGTAGTGGAATCTCATTGTTTTATATTTGCATTTCCCTGATGACATATGATGTGGAGCATTTTTTCAGAAGCTTATTGCCATCTGTAGGTCTTCTTTGGTAAGGTGTCTGTTAAGGTCTTTGGCCAAGTTTTCAGTGGGTTTTTTTTTTTTTTTCTTATTTCTGAATTTAAGAGTTTTTGTATATTTTTGATGACAGTCCTTTATCAGGTATGTCTTTTGCAAATATTTTTCCCAGTCAGTACCTTGTTTTCTCATTCTCTTTACATTGTATTTCACAGAACATACATTTTTAACTTTAGTGAAACCCATCTTTTCAATTCTTTCTTTTATGGATTGTGCCTCTGGTATTGTATCTAAAAAGTTACTGCAATATCCAAGGTCATACAGGTTTTCCTCTATTATCTTCTAGGAGTTTTATAGTTTTGCACTTTACATTTAGGTCTGTGGTCCACTTTGAGTTAATTTTTATGAAGGGTGTAAGGTCCGTGTCTACATTTATCTTTTTGCATGTGATTGTCCAGTTGTTGTAGCACCATTTGTTGAAAAGATGATCTTTGCTCCATTTTATTGCCTTTGCATCTTTGTCAAAGATCAGCTGATTATATTCATGTGAGTCTTATTTCTGGGTTCTCTGTTGTGTTTTGTCGATCTCTTTGTCTATTCTTTCATCAATAACACAGTCTTGATTACTATAGCTTTATCCTAAGTCTTGAAGTTTGGTAGTATCAGTCCTCCAACTTTGTCGTTCCTCAACATTGTGTTGGCTATTCTGGGTCTTTTGCGTCTCTCTATAAACTTTATAATTGCTTTATCGATACCCACAAAATAACCTTCTGGGATTTGATTGAATCTGTAGATCAAGTTGGGAAGAACTGACATATTGACAATACTGAATTTTTCTATTCATGAACATAGAACAGCTCTTTAGTTAGTTCTTCCTTTATTTTGTTTGTAAGAATTTTGTAGTTTTACTCATATAGATCTTGTAAATACTTTACTTGATTTTTACCTAAGTGCTTAATTTTTGAGGGGTTAAATGGTATTATGATTTCAATGTCAAATTCTACTTGTTAATTGCCGAAATATAGGAAAGCGATTTACTTTTACATGTTAACCTTGTCTTCTGCAAAGTTGCTGTAATTGTTTATTAGCTCCTGGAGATTTTTTTTTTGGTCAGTTATTTTGGGTTTTCTACATGAACGATCATGTCATCTGCGATCAAAGACAGCTTTATTTCTTTTTTCCCAGTCTATATACTTTTTATTTCCTTTTTCTTGTCCTTTTGTATTAGCTAGTACTTCCAGTGTGCTATTGAAAGGAGTGGGAGAGGGGACAACCTTGACTTGTTCCTAATCTTAGTGGGAAAGCTTCAGTTTTCTTATCATTAGGTATGATGTTAGCTATAGGTTTTTTGGATATGTATATATATATATATAAATATACATATGTACATACATTTTGTGTATATGTAAAATATGTGTACATGTTTACATTTATGTATAAATATGTACATACATTTTGTATATTTATTTACATTTATATAAACATATTTTGTATATATAATATACATATTTTATATATACATATGAAAAATATGTATATACACACATATACAAAAAACCTACAGCTAACATCATACTTAATGATATATATATTTATCAAGTTGAGGAAGTTCTCCCCTATTCCGTTTACTGAAAGTTTTTGTGATGAATAGGAGTTGGATTATGTCAAAATTGTTTTCATCTATTGATATAATCATATGATTTTTCTTTTGTAGCCTGTTGATGTAATGGATTATATTAATTTTTTAATGTTGAGCCAGCCTTGAATATCTGGAATGAATCTCACTTGACCATGGTGTATAATTCTTTTTGTACATTGTTGAGATAAATTTGCTAATTTTTAAATTTTTGGTTGAGACGGGGTTTCACTATGTTGCTCAGGCTGGTCTTGGACTCCTGAGCTCAGTTGATCTGCCTGTCTCAGCCTCCTAAAGTGCTAGGATTGGAGGCGTGAGCCACCACAACGTGCTAATATTTTGTTGAGCATTTTTGAATCTGTGTTCATCAGTGATACTGGTTTGTGGTTATCTTTTCTTAGAATGTCTTTATCTGCCATTTGTATTAGGGTAATGCAGGCCTCATAGAATGTTTTAGGAAGTATTTCCTCTGCTTGTGTACTCTGAAAGAGACTGTAGATAATTGGTATAATTTCTTTTTTAAATTTGTAGACTTCACCAGTGAGCCCTTCTGGGCCTGTTGCTTTCTGTTTTGGAAGGTTATTATTATTTGATTCAATTGCTCTGATAGATATAGGCCCATTCAAATTGTTTATTTCTTCTTGTTTGAGTTTTGAGAAATTTTGTCTTTCAAGGAGTAGTCCATTTTATCTAGGTTATAAAATTTGTGAGCATAGAATTGTTCATAGTATTTATTTGTTATCCTTTTAATGCCCATGGGCTGTGTAATGATGTCTTCTACTTCTGATATTAGTTATTTTTGTCCTTTCTCATTTTTTTCTTATTTAGCCTGGCTAGATGCTTATTGATTTTATTGATCATTTTTCAAAAAACAGATTTTGTTTTTGTTCATTTCCTCTATTGATTTCCTGTTTACAATTTTGTTGATTTCTACTCTAATTTTTAGTATTTCTCTGCTTATTTTGGACTTAATTTGCTCTTTTTTCTAGTTTCCTAAAGTAGAAGCTTAGAATACTGATTTTTAGATCTTTCATTTCTGTACATTTCAATACTGTATTCAGGGCTATAGATTTTCGCTTAAGGACTTCTTTTGCTGCATCCCACAAATTTTGATAAGTTGTGTTTTCATTTTCATTTCAGTTAAAATATTTCAATGTCTCTTGAGAATTCTTCTTTGAGGCATATATTATTTAAAGGCATATTGTCTAATCTCCACGTATTTTTGGATTTTTCAGTAATCTTTCTGTTACTGATTTCTAGTATAATTTCTTTGTATTCTGATAGCAGGCAATGTGTAATTTCTATTCTTTTAAATTTGTTAAGGCTCTTTCTGTGGCACAATTATGGGGAATATTCCATGTGAACTTGAGAAGAATGTGTATTCTGCTGTTGTTGGATAAAATAGTCTATAGATGTTGCTTATATCCAATTGATGGACAATGTTTTGAGTTCAATCATGTTTATACTGGTTTTCTGCTTGCTGGTTCTTCAAATTTCTGGTAGAGGGGTGTTAAAGTTTCCAACTGTGAAAATGGATTTACCTATTTATCCTTGTAGGTCTAATAGTTTTTGCCTCATTAGTTTGATGCTGTGTTTTTGGGCATATACACATTAAGGACTGTTATGTCTTTTTGTAGAACTGGTCTTTTTATCATTAAGTAATATCCTTTTTTATCCCTGGAAACTTTCCTTGCTTTGAAGTACGCTCTATCTGAAATTTACATAGCTATTCCTGCTTTCTTGGATTAGTGTTAGCATGGTATATTTTTCTCCATCCATAAGACACTGTTAATTTATATGTGTCTTTATATTTAGAGTGGGTTTTTTGTAGGCACATACAGTTGGGTCTTGTTTTTTGTTCTACTCTTACAGTCTCTTTAAATTGATGCATTTAGACCACTCAGAGTGATTGTCGATATAGTTGGATCAATAACTATCATATTTGTTACTGATTTTTTTGTTGTCCTTGTTCCTTATTTCAGTTTTTGTTTTCCACTCTGACTTTTATGGTTTAGTTGGACATTTTATATGGTTATGTTTTCCCTCCTTTCTTGGTGTATCAGTTATAGTTCTTTTTTTACTTTTTTAGTGGTTGCCCTAGAGTTTGCAATATACATTTACAACTAACCCAAGTCACCTTTCATGTTACATTATACCACTTCATGCATAATGAGAGCACTTTATAATGCAAAATAACATGAATTTCTTCCTCCTGTCCCTTGTACCATTTATTTCTTATAAGGTGCGTGTGTGTGTGTGTATATGTGTGTATGTGTGTGTGTGTATATGTATTATATATGTATATATTATATATACACAAAGTATAATAAAATACATTTTTGCTATTGTTACTTTGAACAAACTGTTATCTGTTAGATAAATTAATAAGAAAAACAAAAGTTTTTATTTTGCCTTCACTTTTTCCTTCTTCAGTGGTTCTTTCTTTAATTTAGATATGACTTTCAACCTGTATCGTTTCCCTTTTTTTAAAGAACTTCTTTTAACATTTTTTCAAGGCAGGTCTGCTTGAAACAAATTTCTTCAATTTTTGCCTGAGAATGTATTTTTTTTCCTTATCTTTTGAAGGATGATTTCAATAATTCTAGATTTGTGACTTTCTCTCTCAACACTAATTATTTTACTCTACTCTTTTTGCTTGCATGATTTCATGTAAGTCAGATGTAATTCTTACCTTTTTGGTCCTCTAAAGGGAAGGGTTTTTTGTCTGCCTTTGGCTTCCTTCAGGATTTTATCTTTATCTTTGTTTATAGTTTGAAATGATATACTTAGATGTTGGATTTTTTTTCCCCCACATGTATCAGCTTGCTGTTTTCTGAGATTCCTGGATGTGTGGTTTGGTGTTTGACACTAATTTGGGGAAATTCTCAATCATTGTTTCAAATACTTCTGTTCCTTTCTCTACTTCAACAGTCCCCAACCTTTTTGACACCAGGGACCTGTTTTGTGGAAGACAATTTTTCCATAGACTGTCGGGGGCCATGGTTTTGGGATGAAACTGTTCCACCTCAGATTGTCAGGCATTCATTAGATTCTCATAAGGAGCGTGCAACCTAGATCCCTTGCATGTGAAATTCACAATAGGGTTTGTGTTCCTGTAAGAATGTCACGCTGCCGCTGATCTGACCGGAGGCGGAGCTCAGGCAGTAATGCTCCCTGACCTGCCCCTCACCTCCTGGTGTGTGGCCCAGTTCCTAACAGTCCAGGTGACAGGTACTGGCCTGTGGCCTGGGGGTTGGGGAACCCTGCTCTACTTCTTCTCCTTCTCGCATTCCCATCACACATATGTTACACCATTTGTAATTGTCCCACAATCCTTGGATATTCTATTCTGTTGTTTTCAGTCTTTGTTCTCTTTGCTTTTCAGTTTTCAAAATTTCGATTGATATTCCTCATACTAGGGATTCTTTCCTCAGCTGTATCCAACCTACTAGTAAGCCTATCAAATATATTCTTTATTTTTGTTACATTATTTTTGATTGCTGGAATTTCTTTTTGGTTATGTCTTAGGAGTTCCATCTCTGTGCTTACATTGTTTAACTGTTCTTGCATGATGTCTGCTTTTTCCATTAGAGCCTTTAGCTTATTAATCATAGTTGTTGTAAATTCTGATCTGATAATTCCAATACTGCTGCTATGTCTGGTACTAATGCATGTTCTGTCTCTTCAAATTGTGTTTTTTGTTTGTTTTTTGCCTTTTAGTATGCTTTGTAATTTTTTCTTGATTGGTGGCTGTGATGTACCAGGTAAAAGGAACTGCTGTAAATTAATAAGTTACTAATGTAGTGTTAAGGTGTGGAGGGAGGGGAAGCATTCTATACTCCTATGATTAGGTCTCAGTTTTTTAGTGAGCCTTTCCCTCTGGACACGAACTTCATAGGTGTTTCTCAGTTTGTTTCTCCCCACTTGAGTGCGATAGGATGGCTAGAGTGGGTGGAGTTCAGTATTTCCCTTCCCTTGTGTCAGGTAAGCTCTCATAATACCCCGGAGGGTTAGACTCTGGTTAATTCATTTCTCCTGATGGCAGGCCTTATTAAAAACAACAGAAAATTCTGGCACATTTCCAAGTGGTTTCTTTCACTTCCCTCTGGTGGAAGGATGAGGGAACATTTCTTCAGTATTTCCTGTGGGAACCTGGTAGAGCTTCTGGAGGTAAATCTCATGATATTTGGGAACCCCCTATGATTGAATCCTTTTGGAATTTTTAACTTTCAAAGTTGTACACACTGAGCCTCCAGGAATTTGCCAATTCCAGTTTCAGGTTTTCTTACTCTGCTGCTGGTTCCTGTGGTGGTTTTGCTGATTAGTCTCTGCTCTGGAAAGTCCTGGCTCTCTGTATGTCCCTGTTTGTCCCCCTAATCTTGAGAGCAGAAGTTCATCCTGTGTGTTCCCCTCTTAGTTGGGCTCCAAGAAGAGCTGTTGTTTTTCTAGTGTGTTCACCTTTTTACTTGTTAGGACAAAGTTCATTCTGAGCTTCTTGCATCAGGAACCAGGAACTGGATCTAATAATGTTTTTATAAGATACATTTCTTAAAATGACAAAAGTAATATGTGTTTGTACAGGAGCTAAATTAAACAAACCAAAAAAAGAATCAAGAAGTTGAAAATCAAGGGGGTAAAAATCAGCACACACAAGGCATTCTGGCAGAGTTCATGCTATCTTTTCTTTATGTTTATAGATGTGTAGAGAAATATTTAAATATTTAAAAGTTAAAAGGTATAAACATGATGTATGGTGCCTTAAGCAGTATTAACAGGCATTGATTTTAAAGTGGTACACTTAGGCCCATTAGTAAACAAATACAGATTTTAAAATACATTTATATGTTTTCTTCATTAACTCTTACCATCACTGCATATTCAATCTATATTCCTTTTGTAATTTAAAAACCATTTTAAAAATGTGTTTAAATGATTTATGATGATACTTATAAGTAACACATAGTTGGGTTTTTAAAAAAATTGAATTTGATAATCTTTGTATTTTAGTTATCCTTCATGTGGTTACTGATCTATTTGGTTTTAAATCTATCCTTCACTGTTTACTTCCACTTACCCTTGTCTCTTCTATGTTCTTTTTTTCCTCTTTTTTCTTACACTTTTCTGGATTAATTGCTCATTTTATATTATTCTAATTTTCTCTTCTATTAGTTTGTTAGTCATATTTCTTTCTTTTTGTCTTACAGTGGTTGATCTGGAGATTACAATAGGAATCCATGACTAAGTAAAGTCTAGTGAAAGTCGTCAACCTTTCTGTACAATGTGAGGACTTTACAACACTTTAATTCCATAATTCCAATTTATCTACTGTTATTGTCATATATTTTATTTCTATAAATATATTTAAACCTTATAAGATTATAATTGTCTTTTACAGTCAGTATTCTTTTAGATTTACTCGTATATTTACCTTTTTTGTTACTTTAATTCCTCCCTGTATCTTCTAACTTTCATCTGAGATAATTTTCCTTCTGCCCTTTAGACTTCTCTTTCTTGAGAGTCTGGAAGTAGCACAATTTCTCCATGTTTGTTTCAAAACTTATTTATATTGCCTAATTTTTGTGTGATAATTCAGAAATACAGACTTTGTGTTGCCGGTTAGTTACAGCACTTTTATATACAGCATAGTGTCTATAGTCGATTACCCTAGTGTTTTCTGACTTCAGTACTTCTCTTAAGAGGTCAGCTGTATGCCTTACTGTTGCTTCTCTGTTCTTGTTTTCTTTGGTCACTTTTAAATTTTATTCTTTGTCTTTGATTTTTAACAGTTTTGCTATGATAAGAATATGTTTCTGCTCTTTTGTTTTACCTGCTTGGGATTCAGAATGACTTATTGAATCTGTTCCTTGGTTTCATTCACAAGTTTTGGACAATTGTTGCCAGATCGATCGATCTTTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTTTTGGGGATGGAGTCTCGCTGTGTTGCCCAGGTTGGAGTGCAATGGCACGATCTTGGCTCACTACAACCTCTGCCACCTGGATTCAAGCAATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGTGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGCCAGGCTGGTCTCCAACTCCTGACCTCATGATCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCGGCCTAGATATTTCTTTAGATATGGCTTCTGCTCTATTTTTTCTGCCTTCCCTTTTTGGGACAATGATTACATGTTCACCACAGCTTTCACTTTATCTCAGTGATTCTCAACCAGGGGCAGTGTCTCTCCCCAGGGAATATTTGGCATTATCTTGAAAAAATTTCAGTTGCCCCAACTGGGGAGAAAGATGCTACTGACACTTACAGGGAAGAGGCTAGGGATGCTACTAAATGACCTATAGTGCATAGGGTGACTCCTCAAGAAAAAGAATTATCTGGCCCCCAATTTCAACAGTGCTGAGATGGAGAAGACTAATTTATTCCATATGCCTCCTATTCTTTGCGGCAATTCCCATTACTTTGTCTCTCCATGCTTCATCCGGTCCGTTTTCTGTTGACATATATTCAATATTCAGTCCTTGAATTCTCTCATTGTGTCTATCTGTTGTTAGTCCCATTTATTGACTCCTTTTTAAAGTTTCAGATATTGCATGCTTTAGTGTTAAGAGTTTCCTTTTGGTTCTTACGATGTTTTCTAGCTCTCAAGCTTGTTCTGATTTTCTTCAAATATATTAATAAGACTTTTTTTTATAGTCCCTGTCTGATAATTCCATTCTTAAGACACTTTGTGCCTCTGTTTTTATTAGTGATGGCTCTTTTTGCTTTTCTGTTACATGGTCTGTGCTCCTTCTGAGCCTGGTTGTGTTTGTAGTTTGTCCCAGACAATGTATGGGAAAAATGGTAGAGATGAGAGAACGGAGAACACTTTTACTCCTGTTAATATTTGCTTCTGACAACAGCCACCCCATGGGTACCAGCAACCACACATAACCTTAATTAGATTAGGGATTGAGAAGATACGAAGATGGGCTTCAGTCCCTTTAAGCGCTGGTTTGTTTCTGGTTCTTGCATATACATTCTAGGGCATAAATACAGAGAATTTACTAGAGTCTTCTCTCTCTTCAATAAGTTTTTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCCAGGCTGGCATATGGTGGCACAGTCTCGGCTCACTGCAACCTCTCTCTCCCGGGTTCCAGTGATTCTCCTGCTTCAGCCTTCCAAGTAGCTGGTATTTTTTTTTAATATTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGACCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAACATGTGGTGTTTGGTTTTTTGTCCTTGGGATAGTTTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGCTTGGTTCCAAGTCTTTGCTATTGTGAATAGGGCCACAATAAACATACGTGTGTGTGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAGCAGTGTAAAAGTGTTCCTATTTCTCCACATGCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGGCATTCTAACTGGTGTGAGATGGTATCTCACTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCCTTTTTTCATGTGTCTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTTTCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGAGTAGGTCGCGAAAAGTTTCTCCCATTTTGTGGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATTCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTAAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACACATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCGTTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTGGTTACTGTAGCCTTGTAGTATATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGTGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTCCTCCTACCCATGAGCATAGAATGTTCTTCCATTTGTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGGTGGATTCCTAAGTATTTTATTCTCTTTGAAGCAATTGCGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCTTGAGACTTTGCTGAAGTTGCTTATCAGCTTCAGGAGATTTTGGGCTGAGACAATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCTCCGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGTCTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGCATGATATTGACTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATATTGAACCAGTCTTGCATCCCAGGGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCCGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAGGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCTCAGCTTTGGTATCAGAATGATGCTGGCCTCATGAAATGAGTTAGGGAGATTCCCTCTTTTTCTGTTGATTGGAATAGTTTCAGAAGGAACGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTCTGGTTGGTAAGCTATTGATTATTGCCACAATTTCAGCTCCTGTTACTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTTTTGGGAGAGTGTATGTGTCGAGGAATTTACCATTTCTTCTAGATTTTCTAGTTTATTTGCGTGGAGATGTTTGTAGTATTCTCTGATGATAGTTTGTATTTCTGTGGGATTGGTGGTCATATCCCCTTTATCATTTTTTATTGCGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCATTAATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGCTGTTAGGGTGTCAATTTTGGAGCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTGTAGACACTGCTTTGAATGCATCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCACGTAGTTGAGCGGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTACTTCCAGGTATGTGGTCAATTTTGGGATAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAGTTCCTGGGTATCCTTGTTAACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTATTGTGTGGCAGTCTAAGTCTCTTTGTAGGTCACTCAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATATATATTTAGGAAAGTTAGCTCTTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCCTTTTTTGTTTTCCATTTGCTTGGTAGATCTTCCTCCATCCTTTAATTTTGAGGCTATGTGTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTGCCAGTCTGTGTCTTTTAATTGGAGCATTTAGTCCATTTACATTTGAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTTGTTAGTTGATGCAGTTTCTTCCTAGTCTCCATGGTCTTTACATTTTGGCATGATTTTGCAGCAGCTAGTACCGGTTGTGCCTTTCCATGTTTAGTGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTTGTCTGTAAAGTATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTAGGTGAAAATTCTTTTCTTTGAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGTTTCCCTTTGTGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACGTTTTTTCTTTCATTTCCACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGATGAGTATCTTTGTGGTGTTCTCTGTATTTCCTGAATGTGAATGTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCATGGATGATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTCCCCGTCATTTTCAGGTACACCAATCAGATGCAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGTTCGTTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCACTTCATTTCATTCATTTCATCTTCCATCGCTGATACCCATTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCATGTAGTTCTCGAGCCTTGGCTTTCAGCTCCATCAGCTCCTTTAAGAACTTCTCTGTATTGGTTATTCTAGTTATACATTCGTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATTTCCTCCTGTAGCTCGGAGTAGTTTGGTCGTCTGAAGCCTTCTTCTCTCAACTCGTCAAAGTCATTCTCCATCCAGCTTTGTTCCGTTGTTGGTGAGGAACTGCCTTCCTTTGTAGGAGGAGAGTCACTCTGCTTTTTAGAGTTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATTTACTTTTGGTCTTTGATGATGGTGATGCACAGATGGGTTTTTGGTGTGGATGTCCTGTCTGTTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAGTTTGCTAGAGGTCCACTCCAGACCCTGTTTGCCTGGGTATCAGCAGCGGTGTCTGCAGAACCGCGGATTTTCATGATCCGCGAATGCTGCTGTCTGATCGTTCCTCTGGAAGTTTTGTCTCAGAGGAGTACCCGGCCGTGTGAGGTGTCAGTCTGCCCCTACTTGGGGGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCCTTAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTCTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACGGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTGGAGCTTCCTGGCTGCTTTGTTTACCTAAGCGAGCCTAGGCAATGGCGGGCGCCCCTCCCCCAGCCTTGCTGAAGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGTGAGACTCCATGGGCGTAGGACCCTCCGAGCCATGTGCGGGATATAATCTCCTGGTGTGCCGTTTCCGAAGCCCGTCAGAAAAGCGCAGTATTGGGGTGGGAGTGGCCCGATTTTCCAGGTGCCGTCTGTCACCCCTTTCCTTGACCAGGAAAGGGAACTCCCTGACCCCTTGCACTTCCCGAGTGAGGCAATGCCTCGCCCTGCTTCGGCTGGTGCATGGTGCGCTGCACCGACTGTGCTGCGCCCACTGTCTGGCACTCCCTAGTGAGATGAACCTGGTAGCTCAGATAGAAATGCAGGAATCACCCGTCTTCTGCATTGCTCAGGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTTGGCCATCTTGGCTCCTCCCCAAGTAGCTGGTATTACAGGCATGCACCACCATGCCTGGCTGATTTTTGTATTTTTAGTAGAGACGGGGTTTCAAGACGTTCCCCAGGCTGGTCTTGAACTCCTGACCTGAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACTGCACCTGGCCCTCTCTTCAGTAAGTCTTGAGCTCAAAATTTTCCACTTTTCTCTTAAGTTTGTCAAGGTTTGCTTAAAATTTTAGCCTCTTAAGCATTATTAAATAATCACCACAGGCTCTGGAAAGGTGGCCTCAAATCTTGGTATTCTCTCAGGGCTCCCCTCTCTTCCTGGATCTTGTCCCTGCAATTCCTCACTGCTCTATTAGTATTCTGGTGCCCTTAAGCATGATTTTTTTTTTTTTTTTTCCCCAAGCTCTTCTAATTGTTCTCACTGGAGAGTTGATGAGAACCACCTAGTTGATCATCACTGATAGCAGAACAGAAATTCTAAGTGGAAATAAATATCATATGTGCTCTCTAATTTGTGGAAGCTAAGAAAGTGGATCTCACGGAAGTAGGGAGTGTAGTGGTGGTTACCAGTGACTGGGAAGACAGTGGGGAGAGGAGAAGTTGGTTAAAGGGAGTAAGTTAGATGGAAGAGGCCAGGTGCGTTGGCTCACACTTGTAATCCCAGCAGTTTGGGAGGCCAAAGAGGGTAGATCACAAGGTCAAGAGATTGAGACCATCTTGGCCAACATGGTGAAACCCCATTTCTACTAAAAATACAAAAATTAGCTGGGGGTGATGGCGCATGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCATCTCAAAATAAATAAATAAATACAATTAAATAAAAAAGTTAGATGAAAGATATAGTTAGATAGAAGGAATAAGTTCTAGTATTTAATAGTATAGTAGAGAAATTATAGTTAACAATAATTTATTGTACATTTCAAAATAACTAGAAGAGCAGACTTGTAATTTTCCCAACATAAAAGATAAATGTTTGAGGTGGTAGATACCCCGATGATACTGATTTCATCATTACACATTGTCTGTGGGTATCAAAATATCACATGTACCTCCAAAATATGTACAGCTATTAGATATAAATAAAAAAATCTGTAATGCACCTTTATAATTGATACCAATTTATTATGGTTGAAATTTTGTCTCCTAAAACCTGAAGAGGTTTAGGAGACAGAGCCCTGAAGAGGGCTGTGGGAGATAAACCCACAAAATTCTTTTAATCTGTATAGACTGAGAATTGTAAGCACTTTTACTAAAGGAATCTTTCTTGTAAATGTTGCCTTTCAAGGCTACCACTGAAGATATTCCCTGAAGGGTTCAGCTCTCTCAGAGCTTCTCGTTTCATCTTTGACATGCTGTTAAAGGAAGAGAAATAGTCTTGTCATGGAGGAAGGCCAACGAAAATCTCTGCTGCCTTATTGATTTATTTTTAAAATCAGGATTAGGTAGTGTTTTACTCCTCCTCAAAGAAGAGGGAAGTCATTTGGCATCTTCTACTTGCAGTTCCCATGCTCTTAATTTCAGTGATTTCCTTATTCAGTTAACATCAGTTATAAACCATTATAGCCAAAGAAATTCAAAAAGTATTGTAAAATAGTATGTACTTGGGCATATTTATGTGTGTGTAAATGCACACTCAGTCACACACACCCCTGTTATCCTTAGCTCTCCTTGTTGATTTTATTTTTGATATCTCAAGACAAGGTATCATGTACTATGCTAATTAAGTTTCCAAGATCTAAAGCTTGAAGATACCGCAGAGGCCTTGGAGTCACAGCTCCCAGGTAGCCAAAACAATGGACTGAAACTAATAAGAAATTAAGCAATGAATTATACAAAATCTTGTATTACGGGTTAAAAATTAGTGCAGAAGAATGGGCTGTGGGAAAGGCCTGGATGTGTGGCTGACTACTGGCTCTGCGTCAGCTCGTAGGTGTAGGAGCTGACCTGTCTAAGCTGTAGGTGGCAGTGGACGAGGAGTAGGAAATTGCAGTTGTCATGGTTAATGAATGCCACCTGTGAGAGATTCTCAGCATGGGAAATTTACTCTTGCATCATTGGAAGTGAATTGTCTGTAAATATTCCTGTCTTGGATAAAAGAGCCATGGTGTCTATACTCTGGGGAGAGGACTTAGAGAGGGAGGAGAACTTATTTACTTTATTTTGTGGAGAGAAGGCACGTGTTAGGCTAACTCTTTAGTTGGTTTCAAATTTCAGGATTGTTAAATGAGTTTATAATCTAAAGTATCTATTTTAAGAAGTCCACACAGAGAAGATATTATGATCAGAGATTTAGATTAAGCAAATTAGGGTAAGGCTGCTCACTGATTGCCAAAGTATATTTCATTAAGTGCAAATGGATGAAATTTACAATTGAAATCACTAGTCAGGAAACAGTTTGTTTAAGTTCTCCATTAAGAAGTTTTATTGTCATTTGAAGTAACCTTTAACACACTGTGTTAAAGGTCTCTCGTAGAGAGACACACATCTTATTTTGGAAGTTATTCTTTAACCCTATTCTAAAACTTTAAATTGTAGTAGAGTAGATATACACTAATGTGGCACGATATCAAAACCAATTCAGTGGGTTACCACAAAGTGAACCCCGTTAAGCTGTCACCACCCAATACAGACCTTCGCTCCTCCAGAGCTAAACTGTTTGCCTTACTTCAAACACCAAAGTCTAGTTTTGCCCTTCTCTGGAACTCTGTATAAGAGGAATCACCCAAGCACACAGCATGCGTTCTTTGGGATCTGGCTTTTTTGGTTCATTTTTATTTTTGTGAGCCACCCAAGTTGTTGTCTGTAGCTCTTCTTTCTTCATTTCTATTGTATGAATATAACAACATGTATTATTATATTGATGGCTATTTAGATTTCTTCTAGATTTTGTCTGCTTTCAAGAACACTTCAAGGAATGTGTTACATGTCTTCTGACGGACAGGAGTATGCATTTCTCTCTGATACAGACGTAAAAGTAGATTGGCGGGGCCATAGGGCAGCGTGTTTTTAACTTTTCTGGATGATGCTAAACAATTTTCAAAATGGTTATACCAATTAGCATTCCCACCAGCAGTGTATGAAAATTCTTGTTGCTCTACATACTCACCAACGCTTGGCATTTTTAGTCTATTAAATTTACCATTCTAGTGGGTGTGGAGTGACATTTTCTTGTGATTTTAATTAGCATTTCCCTGATTACAGCTAAGGTTGAGGAGATTTTCATTTTTTTATTTTCCATTTTGATATATTATTTTGAGAAGTGTCTAATCGTGTCTCTTTACTATTTCTCTCTCTCTTTTTTTTTTGTTTTGTGTTGGTTTGTTTTTTTCTTTATTGATTTGTATGAGTTTTTCTGTATTACAGATATAAACCCGTAGTCATTGTCTTTGTTTTGTGCTGTTATAACAGACTGGAGACTGGGTAATTTATTAAAAATAGAAATTTATTTCTCATAGTTCTGGGGATGGTAAAGTCTGATATCAAGGTGCCAGTATCTGGCATATCTTGCTGCTTCACAACGTGGTGGAAGGCATCACATGGCAGAAGGGCAAAGAGTGGGTGTGAGAGAGAGAGAGCAAGAGGGCTAAACCTGCTCCCTTCATAATGAACCCACTCCCAAGGTAACTGCATTAGTCCATTCAGGAGGGTGGGGCCTTCATGACCTAAGCATCTCTTATAGGTTCTGTCTCCCAATACCATCCTAGTGGAAATTAAATTTCAGCATGAGTTTTGGAGGGGTCAAACATTCAAACCATTGCAGTTGGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCATGCCGCTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTATCAAAAAAAAAAACCAAAAAACAAAACCATTGCAGTTATATGTTTTGCAGGTATCTTAGACTCTTTGGCTTATTGTTTTACTTTTTGACATTCTTTCTTTTCTCCTTTTGTAAACTTTCAATTGAAGTATGACATGCTTACAGATTAATGGTGTCTTTTGGTGAACAGAAATTCTTAATTTTAGTGTGGCCTAGTTTAGAAATCCTTTCTTCTACATTTAGTGCTTACAGTGTCATATTTTAAAAGTCTTTCCCTTCCCCAAGTTCATGAAGATATTTTTCTGTATTTTTTAGAAGCTTTCCATTGTTGTTTTAGTGAATTTTTGTTACTGTTTTACCTCTCATGTTTGTTTATAACCCACCTAGAATTGATTTTTGTGTATAAAGTGTATCACTTTTAAGCAGTTTTATGGAAATTGGACTGGTGACTAATTTATTTTGTTTTTCAAGAGTTGTGAAAGGGTTGTTAGTGGAATTAATGCATGATTGTTTAACTGTATCACATTTGGACATTGTATTGTCCACTATGCCTGTGCCCTAATGGACATTTTAATTATTTAATGTGTGTATGATATGAAAATAATGTATGGGTAATGGAAATTTTTAATATTTAAAAATGTTGACATCACACACATTATTTACAAAGTCAGTAGTAAAGAAGGGCTTATGAGAAGCCCTAGCCCCTGGCCCCAGGTTTCCCATCACCATCCTAAGACAGGTACTTTTAACAGGCTCTGTTTCAGGTCATCACTAATATTTTAACATTCTGCTTATGTTTCTATTTCTTGATTGATTAAAATATCAAATTCTCTGGACCTTTACTGAAATTAAAATGCCTTTAATTAAATATCTTCAGTATGGATGTTCTTATTTTTAGGAGGGATTTTGTTAACAAAGAAAACATTAGGCAAATTCAATTTAGCAGACGTTATATGAGCAAAGAACAATTCATGAATCAAGCAGCACTCAGGACCAGAAGAGGTTCAGAGAGCTTGACTCAGTAGTGTGAGCAACCAGCTTTTATAGGCTGAACACAGAAGCAAATTAGATAATCTGATTGGCTACCACTAGGCACTTGTCTTACTTGGCATGGGGTGATGAATTGGCTGCCTGTGATTGGCTGAAATCTAGCTGTTCATGGTTAGCTGAAACTCTGCTGTTATAGTCCTAAGTTAGGTTTTGGTTTGTTTGCTTAATAAATTAGGTTGCCTTTGTTAAGTAGGAACTCAAAGATGGGAGATAGTCTCCAGCCAGTGGCCTTCTGCTTATTTCATTTAGCAGTTTGTTTATTAGGAATGGCAGTGTGTCCCTCAAATCAGGATCTGATGATGAAGGTTGTTGGCTAATGATTGAGATAGAGATGGGTTTTTTTGTTTGTTTTTGTTTGGATGCCTATCTGACTCTGAAGGAAAAGAAAAAAATTTCCCTAAGTTTCTTAGCAAATCAAAAGCCTTCTACACTGACTGATTTTAAGGATAGGCTGTAATTAGGTAATGAACATTTTGGTGTGTTAACTTGGAAAACCCCAACTTTATAGCCATAGCTAATATATTCACTGAAATATATTTCGGGTTTTGAAAATCAATTGGCCAAAAGCTTTAAAAACATTCTTTTTAAAAACAACATTTAAAAACTTTCTTGCAGAGTTTTCCTTTAAAAATAAAAAGTGCTACTTTTTAAGCCTTTGATCAAATGTTGACACTCCTCAACTTTGTGACTGAATCATTTAGGACAATATTTTAAATTTGCCTAAAATATCTGTAGGTTAAAGATCAAGAAAATTTCTTGATTAAAAGTGAAAGGATAACAGATATGTTGATAAAAATGGACAACGTCCATAGAATCCTGATACTTGCAGACATTCAGGTGTTTGTAGTTACTCTTCAGGGCCACATCCTATAAACAACTAGAAATCAGGATATACATGTAAGTCAGGTAAATTTCAGACAGCCTGTAATGTTTCAAGCAGGAAGATGTCTCCAGATCTGTCCTGGAGGCTTCCCTGTTCTTTATATTACCGGTCTTGCATTTTACAACTTCAGACTAAACAGAAACTGTATCAGAGGCCTTTGTCTTAGTGATTTAGGCCAGGGAGTGATTTACACTGACTAGTGGTCCTAGGAGCAGTAGGCTTTTAATTCTGCTTCCTGCACTCTAGGATTGACTATCATGCTGTTGAAGATGATGTGTGGCTGCAGGGTGCACCTCCTTGCCTCCTTTCCCTCTGAAACATGCAGGGTTGTTCGGACCCTCCATCCTCTTCCATGCACAAAGCAGTTAATGCAAATTCCGTGGTCCAAGACAATCCTTTGACAGTAACCATCAGTCATGCATTAAAACAGCAGTGTACAGATGGTACCTTCATTGTTTCTGACAGGGACAGTTATGGGCATTGGATTAAAGTAAAAACTGAAAAGGAATATTCATGACAGGAAATTTTCCCTTTCCGGGGGTGTTTTGCAACAGCGGGAAGCAGCTGGTCATTGATGTGTCGGCACAAGGCAGCTTCCTGGATTTCCACTGGCTTCCTGGATTTTTCCAGGTGTCACTTGGAAAGTGTACTGAATTAGTGCTTGAAACTTAGTGTTAGAGTGCTCGAAACTTAGTCTCAAATAGAGGAAATGAACACAGAGTAGGATACATAATGTGGCATTGTTTGGATTGGGAATGCTGTACTTATTTCAGAAATGCCACTCTTTTGGAGGAAAATTAGTTTCCTCCTTACTTTATTGTTAAATCTGGGAAATCTGGAAAGGGCTGTGGGGGCAGAACTAGAGTGGGCTGGTATTCAGGGCCTCCTAATAGGTGGCTTTGGTTGTGTGACTTTGGATGCATATATCACTGTGTATATTTGAAAAAAGCCCTAAAGTAACATCATCTATATGTATATAACTTTAAAGAACTTTAACATTTTTAAAGCACTTTCACTGATGTTTGTCTCTTTGATGATCATGTGAAATGGTGTTCTTAATGACTGTACCTGTCTAGGCAGAGAACATTTTGGGACCTGAACCCAGGTCTTCTTTGTATTTTTTTTTTTCTTTTTGGGACAGAGTCTTACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCATGCCTCAGTCTCCCGAGTGGCTGAGACTACAGGTGCACACCACCATGCCCAGCACATTTTTGTATTATTAGTAGAGATAGGGTTTTACCGTGTTGGCCAGGCTGGTCTCGAACTCCTGACGTCAGGTGATGTGCCCGCCTTGGCCTTCTGAAGTGCTGTATTTTTTTGTTTTCAGGATATTTCTGTTTATTTGCTCATTAAATGAATGGATTATGCAGTAGCCAAGATAATTGAAATAGGTGACCAGTGAGATTTTATTTTCAGTTTGAACTATTGATTTTTTTGGCATTTGATATGTTTTACTCCATTGCAGTTATTCTTTCTGATGCTTGAACTGTCAGATTGGCTCCTGCATTGTTTTGCTTTGGTCACTGTGATCCTTAATCATTTCTTCTATTTCCTGGCAGAAAATAAAATAAGGTGTCCTGGGCTCACTGTGTGTACCTCCCACCACAGACTGGAATCTGCCTTTGCTAAGGAGCATTACAGTGGGAAATTAAATTTAGAAGCCACAGACTGACAGGAGGTATTGGAAGAAATTCCAACTTGAGTCTAACAGATATCTCAGAAAGAGACAACTGAGCGAATGGGAAGTACAGATATAGAGAAATGATTTTTTTTTGTTTTGTTTGTTTTCTAAAAGCTTCTAGATTTGAGGGAAAACACAAACACATACTTAGAAGCAGCAGACCCACTTCATCCTTCAATTCCAGTACATCAGGTGTAAGGAAAAAAAGGCTATTTAGGACATTACAGAGGGCTATAACGCCCAAGCTCCGATGAGAAACTGATTAGTATCCTAAGATCTCTGAAACGCCAAGTAGAAAAGCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGTTTTCATGTATGCAAGGATTCAAAGTTTACCACCCACAAATTATCTGAAAGAATTGCTGGAATAATGTAATCCAGTTATGCAAAACCAAAATCAAACTCTAAGCAGAATAAGTGAGATATAATAAATCCAAGCAGTTAGAGTCCAGAAAATTTGGCATTAAGCCTAATTGTCAGTTGTCAAACATCCCATGAAACATCAACAGCAATCTATAACTGAAACTTCAGAATTCACTCTACAAACGGTCCTGGAGGAGTGAGGGTAGTGTATTTCAGAGGTAGAAAAAGCAGAGAAGAAATGCATTCTAAGATACTTTTCTATATCTATATCATCTATTTATATGTATACCTGTATATACATACCTGTGTGTGTGTGTGCACGCGCACACACGCACGCATATGGACTGATTTATGAAGGCATATATAGAAAAAATAAATTATGCATTTTCACATAACTTTCACATAAACTTGTAAATAACCACTGTAAGAATAGAAATAGGATATAAAGTTTTCAAACCTTGAAGGGCAATAATGGAACAAAGAAAACTGAACAATCCAATAAAACTAAGAAATGCTTTAAGAAAACACAAGAAAAGTCTGGTAAACAGGCAACATATTATGACAACAGAAACCCAATCTTATCCGTAATCACCATGTTGTGAATTGGACATTTTCAGTTGAAAATGTTCCAGCTATGGCCACTTTCAAGAGATAGACTTAAATCACAAATTCTCAGACAAAAATAAGTAAATAGGCAGATAGGCAAATGGAGATGGGGAAAAGCTGCAGCAAGCAGATATTAACAGTGGTTACAGAACTGTATCTTGCTGTAATGGGGGCTAATTGAGGAAAACCATCTGCGGCGGGAGGGCGTGTCTTCACTGAGGTGCGATGGCATTGTTGGCTGCTGAAGCAGGCATCAGAGTCCGAGAGGAGGACAGAGCACGTAGCCACAGGATGAGCACACCCACCAAGGGCTGATATGCAGAGCTGCCTACCCGAGGAGCATTGTGGGCCAGGAGAGCTTTGGATTCATCACAAGAGCAAGAGATGCATGGCAGCCCTGTTTCACAATAAGCATGTTATCTCACTCAGTCCTTGTGGCAAGCCCATTGGATGTACTGTCATTCTCCCGATGTTGTTGATTGGATACCAATGCTGGCCAGATTCATGGTGCTTGTAGGAGTGGAACCACCATGCTCAGCGGGACTAGACAGCTGCCAAACAGTGGAGGCTCAGGAAACCCCTTCACTTAAGTGCCAGCCTCACCCAGCCCGGACCTGGGAGGAAGCCAGGTAGTGGCAACAGAAGAGGAGGAAGGAAAGTCATCCAGGCACGTTTCCTGCGTGGAAAGAACAGCCTAAGATTGCTCAAGGTCTGGTTCAAATGGAGGTGTCCATAAAGAGACTTCCAGATCCCTTCCCATCAGAATTAACCTTTTGCACTCCCACAATACCGAAATACTTTACTTATTTATATGTGGCTATTAGGACAATTCAGAGAGAGACAAAATGTTTGAATTCACAAGAACAACATTTAAAAATGAGATAAGGCCAGGTACGGTGGCTCACGTCTGCAATTCCAGCCCTTTGGGAGGCCGAGGGGGGTGAATCACTTGAGGTAAGGAATTTGAGACCAGCCTGGCCAACATGATGAAACCCCATCTCTACTAAAAATATAGAGATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTGGGGATGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCATCACTGCCCTTCAGCCTGGGTGACAGAGTGAGACTTCATCTAAAAAACAACAGCAACAACAAAAAACACCAAAAAAACAACAAAACAAAACAAATAAGATGAGACCCTCAGTAATTATGTGAGCTTGGGAAAGCTACCACACCTCTTACATTCTGTTCTTTAAAGTAATAATAATTCCTGTGATATTGTCACAATACTCATGATTGGTGATACTTTTTAAAATTAACATTTTGGTAATATAACTCTTGCCCATAGTTTAAAAGCTGAGATAATTCTGTGAGGATTATTGTTCTCTGCTTCCATTTACATTTCTCATAGACAACCAATTCTAACTCTTTTAGCTGTTTCTTTGAGATTTACGTGCATATCTTGAAATAAAATGCTTATATTACCACTTTTTGCTTTAGTTCTGTTGAACAATGGAGAACCTCACAATACTGAAGGTGAGGACTTAGTTCTCTGTTCACTCTCTACCTCCACTACCACGCATAATTAACACACTTCCCTTCATTTATCACATTTACCTAATGAAATTACATAATCATTTTTGTTTAAATTAATATATAATGTTTATATTAAAATCTGTAAACTCATGATTCACAGCTGAGAGCCATGCAATAGGCTATATTCCTTTTCCTTAGAGTTAATACTATTATCTTTGGCCGGTTGTTGAATTTTTCATGTAATGATCACTATTCTATCCCCAAACTCTCCAGTAGACCTGTAATTTTCTCTCCCCATGTTCAGACACGTGGATCTGTGTCTTCCATGTTGTTAGAGACATCTTTTGAAGCATTTTATCCTCCTGCTTGAATGTAAATTGATTGTTTCCTAGCTCTGTTCTGCAGCTGTCAGACTGATATTTTCTTTTATGATTGCCTTTTGTCAACAGCTTTCTGACATCAACTGAGTATTCTATGACCCAGTTCGATTCAGACACTACCTTGCACTTCTGCCTGGCCATCTACACATTTGGGGCTTCCTACAACTTCCTCACATTTGTTAATTTGCTATAACAACTCCCAGAACTTGGTGCTAAATAGTCATTTGATGATGAGGATGCGTTCTGAGAAATGCATTATTAGGCGATTTCGTTCTTGTACAAACATCAGAGTCTACTTACACAGACCTAGGTGTTATAGCATACTACACACTTAGGCTATATGGTAGAGCCTATTGTTCCTAGGCTATAAACCTGTACAGCATGGTGCTTTACTGAATAGTGTAGGCAATTGTAATGCAATTGTAAGTATTTGTGTATCTAAACATAGAAAAGGTGTAGTAAAAATACAGAATAAAAGATAAAAGAATGATATACATATACAGGGTAGTTACCGTGAGTGCAGCTTGCAGGACTGGAAGTTGCTCTGGTGAGTCAGTGAGTGAGTAGTGAGTAAATGTGACGGCCTGGGACATTACTGTGTGCTACTGTAGACTTCGTAAACACTGTACACTTAGACTACACTAAATTAAAAAAAAAAAGTAATTGCACTGTGATGTTATGACAGCTATGACATCACTAGGCAATAGGAATTTTTTAGCCATTATAATCCTATGGGACCACTTTCAGATACGCTGTCCATAGTTCCCTGAAATGTCATTATGTGACACATAATTGTCCTTGTGATTATTGTTTTATTATAAAAATGCAAATGAGCTTCCAGGTGAAAAGTTACATAGGACAAAGTCTAGGAAGTCCTAAGCACAGGGTCTTCTGTCTCTGTGGAGACCAGCAGTGCCATCCTCTTCATACATTGATGTGTTCACCAACCAGGTAGTTTCCCCAAGCCTTGCCGTCTGGAGTTATTGATGGAGTTTCATTTTGTATGCATGATTGATTAAACTTTTGACCACATGATTGAGCTAAATTTTCAGCATCCCTCCCCTTCTTGGAGGTTAAGCCTCAAGTTCCAGTTCTCCAATCACTTGGTTGGTTTCTCTGGCAACCAGCCTCCATCCTGAAACCACTTGAGGGACCCCTTCCATGAGCCACTTCATTAGCATAACAAGGAATTTCTGATTTCTGTCACTAAGAGTTTTTGAAGCTCTATGTCAGGAACCATGGACAAAGACCAAATAGCTACTTTGTATTATTTCAATAGCTATCAACTAGAGAATTTCCCTTGCCATTCTCCATTTGTGGATCCAGATCCTCTTTCCTGGTTTATCTTCTCAGTTGATGGATGGTGTCCTTTATTACAGTTTGGGAAAGGGAGCATAGCAGGATTTTGAAGACCTTATTTTTACCCTTACACTTGATGAATAGTGTGGCTAGGAATAAGTTGAATACTTTTTCTTAGAATTTTGTTGTTTCTTTTCTTATTCCAATGTTCCAGTTCCCAATAGCTTTGTTTTGCTCTCTGAATGTTTCTTGTTGGAAGTATCTGATTTTTGTTAGTATTTTTAAAGCAATGCCGTTGCTCTGTTATAGTACTGAAGTTGTCCTCGTCTTCCTCCTTCTTCTTCTTTCTTCCTCCCCGTGCCCCTTTCCCTTCCCCTTCTTCTTTCTTTCTTCTGCTTCTGCTGCTGCTTCATTTTCTTCCTGCTCCTTGATCCTTCTACTTCTTGCTTTTGCTTTTTATGGAATTTTTCTTCTACTTCCTGTATTGTCTGCATCCTCAAAGTCCCTTATCTGTTGTTTATTTTGGTCTCTATTTGTCATATTAGAGCCTTTCTCATGATGATAGGTGATCTTTGGTAGAAGCTGTGTGTGTGTAGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTGGTGTGTGCAGGCAGGGGGTTCCCATATGTCTGTATGGTAGTGGTGGTGATGTTGGAGAAGTGGGCTTCATCATAGCATGATTTGGATGGGAACGTATTTTGGGGACCTTAATATGATTAGGTCTTTTCTCTTCATTGGATCACATTTCCCAGAGAAAATTTTTCTAGTATGCTACCTGGGCAGTATGTGCCTGGCAGTCAGAGCTCTGGAAACCAAAACAAGGGAGGGGCTGGGGGTCATGCATTCTTAACCCACCTCTGTTGTCAGTATGCATCTGTGCTCTTGCTTTACCTATGCTCATCATACAGAGTCCTCCTCATATTTCCTCTTCTGAGAATAAAATGCTAATATTATGCCATGGCCAAGAGAGGCAGTTGCCACTTGTGCATTGTGGTTCTTAAAATGAATATGCAACAGAGCCTATGAAGAACTTTTAAAATATGAGTGTTGAGGTATGTATGTGAAAATAGCAGAATAATGGCCTCAAAAATTATTTCCTCCATAAAATCAGAAAGAAGAAGGAAACTGCCAACATTTGCCAAAAGTAAGTTTTTCAAAACTTTAGAAATAAACTAAGAGGAGACCAAAAGCTAGCAGCAATCTGGGGAGCATTTATTTTTTATAAAAATAGGCCGAATCTTGGTAAGAACAGTGACTTTTGTGACATTTTAACCTGCCCTATTTCCTTCTCCCATCTCCAGCTCCCTGGTAGCCTTGAATCTGCAATTCAGGCTGCAATCATGATGAAACCATCAGCCTTTCTGTCACCAAAGTGGAGAGAACAGAGTTAAAGCTCCTCAGAGTCTCACTGTTGGAGAATTGTCAGTATTTGGTCTGTCTGGTGGTTCAGTAGAAGACCCCACTTGCAAGACTATTTTTACTTGACCAAATGCAGAGCTTTCCCAGTCTAGAAAGCCTTTTCCCTGGGTTGTTGGGTTGAAAATTTAGAAGTAATTGCTTAACCTTGGGGCTGCCTGAGGCAGTGGATATCAACTGAGGAAGATAATAAGCTATAAAAAGATGAAAAGGAAAGGCTGGGGAATTCGATGTCCACAAGTTCTTTGAAAAGCTCCAAAAAACACATGTAAGGCTGTGCACATGCTCAGGAAAAATCTGAGAAGGCCTTAGACTCTCACCTCTGACTGACCTTGAGACTGTGCACAGGCAGGAAGTGAAGGCTAAAGCAGGGCTGTCAGCTGCCTGGCTGTGTGCGGAAGGTGTGCCCCAGCACACAACACAGCCCACTGCAAACACTGGGGGCAGAGCTGTCAGCTGCCTGGCTGTGTGTGGAAGGTGTGTCACAGCACACAGACATAGCCCACTGCAAACACTGGGGACAGAGCTGTCAGTTGCCTGGCTGTGTGTGGAAGGTGTGCCCCAGCACACAACACAGCCCACTGCGAACACTGGGGGCAGAGCTGTCAGCTGCCTGGCTGTGTGTGGAAGGTGTGCCCCGGCACACAACATAGCCCACTGCAAACACTGGGGACAGAGCTGTCAGCTGCCTGGCTGTGCCGAAGATGTGCTCCAGCACACAGATGCAGCCCACTGCCAACACTGGGGATTCATGGATGCCAAGCATTGAAGGAAATCTCAGTTTCCTAAATAGCTGGCAACTCATATAACAAAGGAAAGACTTTAGTGAGTATACACAACAAAAGATACAGACTTTACAGAATTAGTTGAGAAAAGTTACTGAATAAACAAATAGCAGCAACAACAAACCTAGGGTTGGAGGATATACTTTCCAGATTTTTCACATTATAGTATTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCGGTGGCGCGATGTCCACTCACTGCAACCTCCACCTCCTGGGTTCAAGCCATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCATGATATGCCTGCCTCGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCATGCCCAGCCACATTGTAGTATTTAAAATGTCCAATTTTCAAAAAATATATGTATGAGACATGCAGTGAAAATTTAAAAAGCAGATGGCATATACAGAGGGAAAAACAAAACAGAGTCAATAGGAATTGTCCTAAGAAAGCCCAGATGTTGAGTTTACTAGCAAAACACTTTAAACCAGTTATTTTATATATGTTCAATGCAGTAAACACTGTCTAAAACACTAAAGGAAAGTATAAGAATATCTCACCAAATAAATAATGCCAGTAAAGATGCATAGACATAAAAAATTTGATTCTGGAGTTAAAAATTCCAATAATGAAAATGAAATATTAACTAATGAGTTTCAATAAAGGATTCGAACAGGTGGAAGAAAGAAGGAACTTAAAGACGGATCAACTGAGTTTATCCCATCTGAATAACTGAGAAAAAAAATGGGGAAAAATGAACTAAGCATCAGAAACCTGTGAGAAAACAATCATAGCAACATACGCAAAAGAGTTATCCTAGAAGGAAAGAGGAAAGAAAGGGGCAGAAAGAATACTTGAAGCCAAAGGGAGTAAAAGCTTCCCAAATTGGGTGAAAAACATTGATGTACACATCCGTAAAGCTTAACAAACTACAGGAAGGATAAAACCAAAGATCCACACCTAGATACATCATAATCAAACTGTTGAAAGACAAAGAGGGAATCTTGAAAGCAGCAGGAGAGAACCAACTCATCACATGCAAAGTAGCCTTAATCAGATGAACAGCTGATTTCTCAACAGAAACCATGGAAGATAGAAAGCAGTGGAAAAGGATATTTTCAAAGTGCTGGAAGAAAAGACTTTAAGAATTCTATACCCAGTAAAAATATCTTTCAAAATGAAGGAGCAATTAATGCATTTTCCAATTTTAGAGAAGCTGAGACAATCCACTGCTGGAAAATTTTCCCTGCAAGAAAATACTGAAGAGTACTTTAGGTGAAATGAAAGGAGGGTAATTGGGATCTATAAAGAGATAAAGAATATCAGTAAGTAACTACCTAGGTAAACATAAAAGACACTGTAAATATATTTTGTGTTCATAACTCTTTTTTTCTCCTCTCTGATTTGAGATGCAACTGCATAAAGCAATAATTATAAGTATGTGTTGATATGCATACAGTGTATATAAATGTAATTTTTAATGCAACAACAACACAGAGGAGGAGAAAGCAAAGTTATACAGGGGGAAAGTTTTTGTACACTATTGCTTTAAGTTAGTATCAATCCAGACAAGATTGTTAGAAGTCAAGATGTTAATTGTAATTCCCGGGAAAAACAGCTTTACAAGAAGTAAGTGAAGTGACAAGGAAATGAAAATGGTACAGTGGAGAACATCTGCTTAACAAATTAGAAGGCAGTAGGGAAGGATTGGGGGAAGCACACAAGGCATGTAGAAAATCATAAAAAGCACCTAAGACATATAGAAAATAGCAAACTGGGCACAGTGGTTCACACCTGTATTTTAAGCCCTTTGGGAGGCTGAGACAGGAGGATTGCTTGAGGCCTATCGTTGGAGGCTAGCCTGGGTTACAGAGTGAGGCCCTATCTCTACAAAAAAAAGAAAAATTAGGTAGGCATGGTGACTCACACCTGTAGTCCTAGCTACTCAGGAGGTTGAGGTGGGAGGATTGCTTGAGTGCATGAGTTTGAGGCTACAGTGAACTGTGATTACACTGCACTCTAGCCTGGGTAACAGAGTGAGACCCTGAGGAAGGAAGGAGCAACCTGTTAGCTGTAAATTCTACTTTATCAGATTGCACATGGAAGTAGGTGGATTAGACACTCCAATGAAAATACAGAGATTGACAGAATAAATTAATAATTTGGCTGTATATGCAAGAGACACATTTTAGATTCAAAGGCACAAATAGGTTGAAAATAAATAGATGCAAAAAGATAATACCATGCAAACAGTAGTGAAGCTAGAGCTACAGTGGCTATACCAATATCAGACAAAATAGACTTCAAAGCATTACTACATCTCTACATGGTGGTGGGCGCCTGTAATCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGGCAGAGCAAGACTCCATCTCGGGGAAAAAAAAAAAGAAAAAAGTGTTACTACAGACTAAAAAGAGCATTTCATTGTAATAAAAAGTAAACTGGTCAGGAATATATCACAATTATAAATACATATGACGTATCAATGGGGCCCTCAAATACATGAAGCAAAAAGAGACAGAATTAAAGGGGAGTAATAGACAATTCAACAAAAATAGTTGAAGACTTCGGTACCCCTCTTTCAATAATGATAGAAACACTAGACAGTTAAAAAATAAATGGAAGACTTGAATGGCTTTCGTCTGCTAGCTAATGGACACCTTTTTTGTGATACCCTTGTTTCTTGTGTATAATTTTAAAACAACTACATAAAGCAATAATTAAAATCTGACTGACATTAGACTTAATAATAGAGTTAATAACCATTAGGCTTAAATTAGACCTAATAGACACATCTATAGGACACTCCACAGAAAATGAAAAGACAACTCACAGAATGTGAGATAATATATGAAATAATATATTTCCTAAGGGTCAAGTATCCAGCATATGTTAAAGAAACTCTTACAACTCAACAAAAATACAACCTAATTTAAGAAAGATCAAAGGATATTTATCCAATGAAATACTAAATGAGTAGACATTTATTCAGTGCAATAGTCAAAGCCACTGAGGCTGGGCCTGATGGCCGAAACCTGTAGTCCCAGCATTTTGGGAGGCTGAGGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGGCAACCCATCAAGACCCAATTGCTACAAAAAAATTTAAAAATTAGCTGGGTGCAGTAGTGAATGGCTGTAGTCCCAACTCCTCAGGAGGCTGAGGCAGGAGGATCACTTGAGCACAGGAGGTCGAGGCTGCAGTGAGCTATGATTATACCACTGCACTCCAGCCTGGGTGATGGACCAAAACCCCATCTCAGAAAACAAAAACAAAAAACTAAGAAAACTCCACTGAATTCTGTACTTTAAAAAGATAATTTTATCATACATTAATTATGGCTCATTTTTTAAGTATAAATGCTTGTGTCCAAACCTTCTTATATCTTGAATTGTTCAGTGTGAAAAGAGATCTAGGTTGCTTTTTTTTTAAAACAAAGCTTCCTGAATTGTCTGTTGTGAATATTGTGTTAGCAAACATAGATTTTGAAAATCAGCGAAACACCAGAACTTGAAACGCACTCTGGGCACTTAACTTGAAAGTACTACATATGCTATTTTTATAATTATTTTTTATCTGATTTTCCCCCCGCCCACTAGATTTATCTCAATTGATGAAGCATTTATTGTGGCTTCTTAATAGATGTCTATTTAGAAGAATTATAAACCTTTTTAAAAAATAAGCCAGCTTTATTGAAGCTGTAATTGACATACAAAAACTATATAGTTTAAGTATACAGGTTGATAGGTTGAGACAAGTTTGTACACTCATGAAACCATTCCGACAATATAAAGAACATTTCCATCATTTGTAATAGGCTGCGTTTTGTTTTGTTTTGTTTTTTGCCCCTCTGCAGTTCCTCCCTTACACCTCAGCTTCCTCTAACCTCCAGGCAACCACTAATCTGATTTGTCACTATGGATTATTTTGCTCACTATTTAATTGGATTTTTTAAATGTTGAATTTTGAGAGTTCTTTATATATTCCAGAGATAAAAGTACTTTGTCAGATATGTGGACTCTAAATGTAAGAGTGGTTTCCAATACTCTTAACAAGGTATTTTCCAGCAAAAAAAAAGTTTTTAATTTTCATACAGTCTAATTTTATTTTTCTTCTACAGCTCATGTTTTTAGTGTCATGTCCAAGAACATTTCACTAAGCCCAGGACCCTGAAGATTTTTTCCTATGTTTTCTTAAAAAGGTTTATAGTTTAACATTCACATTTAAGTCTGCAATCTATTTTGAGTTTTTTTTGTGTGTGTGAACATGTGAGGTTTAGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAAACTCTGCCTCGCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCACTACCATGCCCAGCTAATTTTGTTGTATTTTTAGTAGAGATAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACTTCATGATCCGCCCATCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCTGGCCTAGTTCCTTTTTTTATATCGATGTCCGATTGCTGCAGCCCCATTTGTTGAAAAGATTGCCCTTTATTATCCATTGAATTGCTTTTGCACATCTGTCATAATTATTAGGCTCCACTTCAGGAGGTCTATTTCTAGAGTCTTTATTCTGTTTCATTTATCTATGTATTAATCCCTCAACTAATACCACACAGCCTAGATCACTGTAAATCTTCAAATCTGGTGGGATGATTGCTTATATTCCTTCTCTTTCAAAGTTGTTTCAGCTACTCTTTTCCTTTTGTCTTTCCATATACATTTTAGAACTATCGTATGTATATCAACAAATATATTACAGGGATTTTGATATGATTACATTAAACCTCGATACCAATTTGAGGAATGTTAGCATATTTATTATATTATTTCAGTTTGTGAATATGTCTGTTTATTTCTTCTTTGATTCCTGTCATTGGTGTTTGTAATTTTCAATATACAAGTCAAGTACACACTTCGTTAGATTTACACCTAAGCCATTTGATATGGATTGTCCCCTCCAGATCTCATGTTGAAATGTGATCCCCAGTATTGGAGGTGGGGCCTGGTGGGAGGTGTTTGGATGATTGGAGCAGATCCCTCATGAATGGCTTGCTACCCTCCCCAGTATAATGAGTTTATACAAGAGCTGGTTGTTCAAAAGAGCCTGGCACCTCCTCCTCTCTCTCTTGCTCCCTCTTTCACCACGTGACACACCTGCTCCCCTTCACCTTCCACCATGATTATAAGCTTCCTGAGGCTTCACCAGAAACAGATGCTGGCACTATGCTTCTCGTACAGCCTGCAGAACTGTGAGCCAAATAAGCCTCTTTTTTTTTTTTTCTCAATAAGTCAGTCTCAGGTATTCCTTTATAGCAGCACAAAATGGACTAACAGTAAATTGGTACTGAGGAGTGGGGTGTTGCTATAAAAGATACTTGAAAATGAGGAATTAATTTTGGAACTGGGTATGGGCAGAGGTTGGAAGAGTTTGGAGGACTTAGAAGACAGGAAGATTAGGGAAAGTTTGGAACTTCTTAGAGACTGGTTAAATGGTTGTGACCAGAATGCTGATGGCAATATGGACAGTGAAAACCAGGCTGATGAAGTCTCAGATAGAAATGAGGAATTTATTAAAAACGAGTAAGGGCACTCCTGTTACACCCTAGCAGATAACTAGGCTGCATTGTATTCATGTTCTAGGGATTTATGGAAAGTTGAACTTAAGAGTGATAACCTAGGGCATCTGGCAAAGGACATTTCTAAGCAGCAAAGCATTTAAGAGGTGACATGGCTGCTTCTAACAGCCTACTGTCAGATGCAGGAGCGAAGAAATGACTCAGAGTTTGAAGTTACATTTAAAAGGGGAGCAGAGTGTAAAAGTTAGAAAATTTGCAGCCTGGCTGTGTGAAAGAAAAAGCATTTTCAGGAGAGGACAATAAGCAGATTGTGTCAGGAGAGGACTACAAGCACTAGTGGAGCAACTTCTCCCAAAAGAGATTTGCATGACTAAAAGGGAGGCAAGCACTAATAGCCAAGACAATGGGGAAAAGGCCTTGAAGGGGTCTCAGAAATCTTTGGGACAGAAGTTCCCATCACAGGTCCAGAGGCCTGGGAGGAAAGACTGGTTTCTGAGGCCAGAGCTGAGGCACTGCTGCCCTGCACAGCCTTAGGACACTGCATCCGTGATCCTGGAAGCTCTGGCTCCAGTCATGGCACAGAGGGCTCCAGGTACAGCTTGAGCCACTGCTTCAGAGAACATAAGCCGTAAGCTTTGGTGGTACCATGTGGTACTAAGTCTGCAGGTGCACAGAATGCAAAATTGAAGGAAGCTTGGCAGCTTTTACCTAGCTTTCAGAGGATGTATGGAAAACACTGGGTGCCCAGGTGGAAGCCTATTGCAGGGGTGGAGCTACCATGGAGGGCGTCTAATAGGGTAGTGCTGAGGGGAAAGATGGGGTTGGAGCCCTCACATGGAGTCCCCACCAGGTCACTGCCTACTGGAGCTGTAGGAAGGGGGCAACCATCCGCCAGACCCATGAATGGTAGAGCCACTGTCAGCTTGCACCCTGAGCCCAGCAAAGCTGCAGGCAGTCAACTCCAACTTGTGTGAGCAGCCACAGAGAGGGCACACTCTCCAAAGCCACAGGGTCAGAGCTTTCCAAGGCCTTGGGAGCTCACCTCTCACAACAGTGTACCCAGGATGCGGGACATGGAGTCAAAGGAGGTTATATTGGAGCTTGAAGGTTTAATGTTGGCCCTGCTGGGTTTCAGACTTGTGTGTGGCCTATTGCCCCTTTCTTTTGGCTGATTTCTCCCTTTAGGAATGGGAATGTTTACCAAATGCCTGTACCACCATTGTTTCTTGAAAGCAAATAACTTGTTTGTGATCTAACAGGCTCATAGGTCAAAGAAATTTGCCTTGAGCCTTAGATGAAACTTTGGACTTTTGATTGAGTTAATGCTGGAATAAGTTAAGACATTTGGGGACTATTTGGAAGGGATGATTATATTTTGTAATAGGAGAAGGACAAGAGATTTAGGGGACCAAGTGCAGAATGATATGGTTTGGGTATTTGTTCCTTCTAAATCTCATGTTGAAATGTGATCCTCAATATTGGAGGCAGGGGCTGGTGGAAGGTGTTTGGGTCGTGGGGATGGATCCCTCATGAATGGCTTGCTGCTCTCCCCACTGTAATAAGTTCATGCAAGAACTGGGTGTTTAAAAGAGGCTAGCACCACTTGCCCTCTATCTTGCTCCCTCTTTTGCCATATGACACACCTGCTCCCCTTTTGCCTTCCACAATGATTTTAAGCTTCCTGAGGCTTCACCAGAAGCAGATGCTGGCACCATGCTTCTTGGGCAACCTGCAGAACCAGAAACCAAATAAATCTCTTTCCTTTATAAATTACCCAGTCTCAGGTATTCCTTTTTACCAATGCAAAAGGGACTAATACATTGGTCTTCCTTCATTGTTTTCCTTCTTCCTGTTCCCATTTTCTCCCTTCCTTCATTGTCCTCCTTCTTCCTGTTCCCATTTTCTCCCTTCCTTCTTTCCTTCCTTCTTATTGTTAAAAATTGTAAATGTTAATGTATATTTAATTTTGATGTCCATATGCTCATTGCTGGTGTATATAAATCAAGTTGATTTTTGGTATGTTAATTTTGTATCCTGCAGCTTTGCTAAACTCACTTATTCTGTTTTTGTTTTGTTTTTGTGGATTCTTCGGGATTTTCTATGCAGACAATTATGTCTTCTGCAAACAGCCAGTGTTATTTCTTTCCTTTCCATCTGTATGTGTTTCATTGCCTTTTCTTGAACTTACTGCACTGGCTAAAACTTCTAACAGTATAACATAACATAACATAGTGTTAGAAGTTTTAGCCAGTGCAATAAGTTCAAGAAAATAGAATAAAAGTAGAGAGAGCAAACGTCTTTGCCTTGTTTCCTATTTTAAGAAGAAATTATTGATTATTTTACTACTAAATATAACTGTAGCTATAACTGTTTTGTAAATGCTGTTTATCAAGTTGAGGAAGTTTGCCTTTATTCCGACTTTTTTGAGTTTTATAATGAATAGGTCTTGAATTTCGTCAGATGGTTTTTTCTGCGGCTCTTGATATGAATCACATTATTAATATTATTATTATTATTATTATTATTATTATTTTTGAGACAGAGTCTCCCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCAGGCTCCCGAGTAGTTGGGATTACAGGCATCCGCCACCACGCCCAGCTAATTTTTTGTAGTTTCATTAGAGATGAGGTTTCACCATGTCGGCCAGCCTAGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGTGCCACCGCGGCTGGCCAGAATCACATTATTTGATATGAATTTTTTTGTGTAGTTTTTCTTCTTTTGCCTTTTCTATTTAAGTTTTATATTGATTGATTTTCAAATATTAAACCAGCCTTAAATCCCTGGAATAAACCCTGGTTTGGTCATGGAACATAATTTTTTTGTATATATTGCTGAATTCAATGTGCTAACACTTATTATGGATTTTTGTGTCTATGAGAGATATTCATCTATATTTTCTTTTTTATACTTTCTTTGTTTCTGTAAGCAGGGTAATACTGGCTTAATAAATGAATTGAGAAGTGTTTCCTCTTTCAAATTGTGGAAGCAATGGTGTAGAATTGGTGTTAAAATTATTCTTTAAACATTTGATACAGTGAAATCGTCTGGGCTTAGAGACTTTATTTTTAAGAGTTTTAAAATTACAATTTCAGCATCTTTAATGTTATAGGACTTTTAAAATTATTTATTTTGTATTAGGTGAGTTGTAATCATTTGTCTTTTTTGAGGGATTTATTCATTTCGTCTAAATCGTCCAATTTATGAGTGTAAAATTCTTCATAGTACTTTCTTATTATCCTTTGATATCTGCAGGATCTGCATTCATATCCTCTATTTTAGTCCTCATGCTGCTTATTTGAATCTTCTCTCTTTTTTCTTTATTAGTCTCGCTAAAGGTTTTTCAATGTTACTGTTCTTTTTAGAGAACCAGCTCTTTGTATCATTGATTTTCTCTATTGCTTGCTTTCAATATCATTGATTTCTGCTCTTACCTCTATTTTTTCCTTCATCCTTCTTGCTCTCTGGGAAATTTTTTTTTCTCTTTTTGTAGGTTCTTCAGATAGGAGCTTATATTATTTTTTGAGTCTTTTCCTTTTTTCTCATATATGCATTTATTATTGTAAATTTCCTTCAGCATTGCTTGCTTTCTATCTCACAAATTTTAATATGTTGTATTTTCATATTCAAAATATATTTTTAAAAATTATCTTGATTCTTTCTTTTTGACCTACAGATTACTTAGAATGTGTGTTTTTTCAATATTTTAGCCTTTGGATATTTTCCTATTATTCTTCCATTGTTAATTTGATTCCAAATTATACTTTGTGTTATTTCAGTTATTCTACATTTTTGAGTTTTATGGTCCAGAGTATGGCACATTTTGGTATGTACTCCATGGCCACGTGAAAAGAGTATTTTCTGCTTTTGTTCATTGGGGTGTTGTGTAAATTTTAGTTATATCTTGTTGGTTGATATTGTTAAGTTTGTCTGTATCCTTGCTGATTTTCTGTCTCTTTCTCTTTTAAATTGTGGAGAGACAAAGTATAAACATCTCCAGCTATAATTGTGGATGCTTCTGTTTCTCCTTTCAATTTTGTAAGTTTTGTCATCTATGTGTTTTGAAGTTTGATGACACACAATTAAGATTGCTGTGTTTTCTTGGCAGATTGGCCTGTTTATCGTCAGATATTGTCTCTCCCTATCTATGGTAATTTTCTTTGCTCTGAATGCTTTATTTGATATTATATCAGGCCACAACAGATTTATTTAGATTAAGGTTTACATGCTGTATTTTGTTCTATTGTTTTATTTTCAAATCGTGTGTATTGTTTTATTTGATATAAGTTTCTTGTAGACAGCTTATAGTTTGGTCATGCTTTTTTGTTGCTGTTTTTAGTAGATTTTATTTTTAGAGCAGTTTTAGGTTTACAACAAAATTGAACAAAAGTACAAAGATTTCCCACATATCCTGTGTCACCCCACATGCATAATCTCTCTCATTATTAACATCCCTGACCAGAGTGGTACATTGTTACGATTGACAAACCTACACTGACACATCATTGTCACCCAAAATTCATAGTTTACATTAGTGTTTGTTCTTGGTGTTGTACATTCTGTAGGTTAGGGTAAATGTATAATGACCTGTATCTACCATTATAATATCATTCAGAATAGTTTCACTGCCCCCCAAGTCTTCTCTGCTCCACCTAGTCATCCCTTGCTCCACCCAACTCTTGAAAACCCTTGGTCTTTTTATAGTATCTATAATTTTACCTTTTCCAGAATGTCAGCTCTGGGAATGTATGGTCCCACAGTTGGGAGCATACAGAATGTAGCCTTTTCAGATTTGACTTCTTTCACATAGTAATATGCATTTAAAGTTCCTCCATGTCTTTTTATGGCTTGATAGCTCTTTTTTTTTTTAGTGTTGAATAATAATCCATTGTCCAGATGTACCACAGATTACCCATTTACCTACTGAATGACATTTTGGTTGCTTCCAGTTTTGGGCAATTATGAATAAAGCTTCTATAAACATCTGTGTATAGGTATTGTGTGGACATATGTTTTCAAATCCTTTGGGTAAATACCAAAGAGGGCAATTGCTGGATTAAATGGTAAGAGTATGTTTAGTTTTGTAAGAAAATCCTAGACTGTCATTCCAAGTGCCTGTACCATTTTCTGTTCTCACCAGCAATAAATGAGAATTCCTGTTTCTGTTTGTCCTTGCCAGCATTTGGTGTTGCCAGTGTTCTGGATTGTGGCCATTTCAATAAATGTGTAGTGGTATCTCATTGTTGTTTTACTCTGCATTTCCCTGATGACATATGATGTGGAACATATTTTCATATGTTGATCTGTATGTCTTCTTTGGTGAAGTATCAGTTAAGATCTGTCTTAGTTCATTTAGTGTTCCTATAAAGGAATACCTGAGGCTGGGTAATTTATAAAGCAATGAGTTTTATTTGGCTTACAGTTCTACAGGCTGTGGAAGTATGGCACCATCATCTGCTTCTGATGAGGGCTTCAGTCTGCTTCTACTCATAGCAGAAGGTGAAGGAGGAGGAGCATGTGTAGAGATCACATGATAAGAGAGGAAGCAAGAGAGAAAGAGAAAGAGGTGACAGGCTCTTTTTAACAACTAGCACTCACTGCTCTTATGGGAACTAAAACAGTGGTAACTCATTACCAGGAGGATAGTACCAAGCCATTCATGAGGGATTTGCCCCGTGACCCAAACACTTCCCCTTAGGTGCCACCTCCAGTGTTGGGGATCAATTTTCCATATGAGATTTGGAGGGATCAGACAAACTATAGCAAGGTCTTTGGCCTATTTTTAAATTGGGTTGCTTGTTTTCTTTTTGTTGAATTTTAAGCACTGTTTGATGTTTTTGTATAACAGTCCTTTATCTGATTTGTCTCTTTCAATTACTTTCTCCCATTCTGTGACTTGGCTTCTCATTATCTTGAAATTTTCTTTTGCAGAGGAGAAGTTTTTAATTTTAATGAAGTCCAGTCTATCAATTCTTTCTTTCGTAGATCATCCTTTGGTGTTACTTCTAAAAAGTCATCACCATACCAAAGTCATGTAGGTTTTCTCTTGTGTTATCTTCTAGTTTTATAGTTTTGCATTTTACATTTAGGTCTGTGATCCATTTTGAGTTAATTTTTGTGAAGGATGTAAGGTTGTATCTACATTTATTTTTTCGTATGTGGATGTGAGTTATTTCAGCATCATGTCTTTTAAAGACTATTGGGACCTGTTTTTCTAGTCTCTGCCAACGTGTATTAAATTACTTTATTTAAAACTAGAAAACCTAGAAGAAATGGTTACATTCCTGAACACATACACCCTCCCAAGACTGAACCTGGATACAGTCAAATCCCTGAATAGACCAATGACAAGTTCTGAAATTGAGGCAGTAATAAAAGCCTACCAACCAAAAAAAAAAAAAAAAAGCCCAGGACCAGATGGATTTATAGCTTAATTCTACCAGAGGTACAAAGAGGACCTGGTACCATTTCTTCTGAAACTATTCCAAACAATTAAAAAGGAGGGACTCCACCCTAACTCATTTCATGAGGCCAGCATCATCCTGATACCAAAACCTGTCAGAGATACAACAAAAAAAGAAAACTTCAGGCCAATATCCCTGATGAACTTCGATGCAAAAACCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCACATCACAAAGCTTATCCACCATGATCAAGTCAGATTCATCCCTGGGATGCAAGGTTGGTTCAACATAGGAAAATCAATAAATGTAGTTCGTCACATACACAGAACTAAAGACAAAAGCCACTTCATTATCTCGATAAATGCAGAAAAGGACTTTGATAAAATTAAACATCCCTTCATGTTAAAAACTCTCAATAAACTAGGTATTGATGGGACATACCTCAAAATAATAAGAGCCATTTATGGCAGACCCACAGCCAATATCATACTGAATGGGCAAAAGCTGGAAACATTCCCCATGAAAACCAGCACAAGACAAGAATGCCCTCTCCCACCACTCCCATTCAACATAGTATTGGAAATTCTGGCCAGGGAAATCAGGCAAGAGAAAGAAGTAGAGGGTATTCAAATAGGAAGAGAGGAAGTCAAATTGTCTCTGTTTGCAGATGATATGATCCTATATCTAGAAAACCCCGTTGTCTCAGCTTCAAATCTCCTTAAGCTGATAAGAAACTTCAGCAAAATCTCAGGACAGGAAATCAATATGCAAGAGTCACAAACATTTCTATATAACAACAGACAGAGAGCCAAATCATGAATGAACTCCCATTCACAATTGCTACAAAGCAAATAAAATACCTAGGAATACAGCTAACAAGGGAAGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATCAGAGAGGATACAAACAAATGGAAAAGCATTCTATGCTCATGGATAGGAAAAATCAATATCATGAAAATGGCCATACTGCCCAAAGTAGACAGATTTAATGCTATTCCCATTAAATTACCATTGACATTCTTCACAAAATTAGAAAAAAAAAAACTACTTTAAAATTCATATTGAACCAAAAAAGGGCCCTTACAGCCAAGGCAATTCCAAGCAAAAAAGAACAAAGCTGGAGCAGCATCACTCTACCCAACTTCAAACTATACTACAGTGCTACAGTAACCAAAACAGGATGGTACTGGCACAAAAACAGACACATAGACCAATGGAACAGAATAGAGAATTCAGAAATAAGACCACACATCTAAAACCATCTGATCTTCTACATACCTGACAAAAACAAGCAATGGGGAAAGGATTTCCTATTTAATAAATGGTGCTAGGAGAACTGGCTAGCCATATGCAGAAAATTGAAACTGGATCCCTTCCTTACACCATATACAAATATTAACTCAGGGTGGATTAAAGACTTAAATGTAAAACCCTAAAATATAAAAACCTAGAAGAAAATGTAGGCACTATCATTCAGGACGTAGGCATGGGCAAAGATTTCATGTTGAAAACGTCAAAATCAATTGCAACAAAAACAAAAATTAACAAATGGGATCTAACTAAAGAGCTTCTGCACAGCAAAAGAAACTGTCATCACAGTGAACAGACAGCCTATAGAATGTGAGAAAATTTTTACAATCTGTCCATCTGACAAAGGTCTAATATCCAGAATCTACAATGAACTAAACAAATTTACAAGAAAAACACAACCCCATTAAAAAAATGGGCGAAAGGCAAGAACAGACACTTCTCAAAAGAAGACATTTATGTGGGCAACAAACATATGAAAAAAAAGCTCCACATCACGAATCATTAGAGAAATGCAAGTCAAAACCACAATGAGATACCAACTCATGCCAGTCAGAATGGCGATTATTAAAAAGTCAAGAAACAACAGATGCTGGCAGGGCTGTGGAGAAATAGGAATGCTTGTATTCTGTTGGTGGGAATGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTCCTCAAAGACCTAGAACCAGAAATACCATTTGACTCAGCCGTCCCATTACTGGGTATATATCCAAAGGAATATAAATCATTCTATTACAAAGATACATGCATGTGTATGTTCATTGTAGCACTATTCACAATAGCAAAGACATGGAATCAACCCAAATTCTCATCAATGATAGACTAAAGAAATGTGGTACATATACACCATGGAATACTACAGAGCCATAAAAAGAAATGAGATCATGTCCTCTACAGGTACATGGATGAAGCTGGAAGCCATTATTCTCAGCAAACTAATGCAGGAACAGAAAAGCAAACACTGCATATTCTCATAAGTGGGAGCTGAACAATGAGAACACATGGACATGGGGTAAAGCAGGGAACAACACACACCAGGGCCTGTCGGGTGGGGTCCTGGCAGTGGGAGAGCATCAGGAAAAATAGCAAATGCATGCTGGGATTAATACCTAGGTGATGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTTTACCTGTGTAACAAACCTGCACATGTATCCCGAAACTTAAAATATAAAATTAAATTTGAAAAATAAAAATAAATAAATTACTGTACTTAGAGTATTTACATTTAATGTAATTATTGGTATGTTAGGGGCTTATGTGTGCCATTTTATTTCTGTATTTTGTTTATCTTTTTTATATTTTACCTGCTTTCCTATAGGCTATTTGAACATTTTTAAGAATTCCATTTGATTTATTCATAGTGTGTCCCAGTGGAACTCTTTGTGTATATATAAATTATTCCAATGAGTAATACTCTATTGTTTGAATATTAGTCGTTTTTCTAGGTATTATATTATTTATGAATAGCTTATTCCTGTCTACTAATGTTATTTTACCAGTTTGCATGCAGCATAGAAACTTTACCTCCCTTTATCCTCTCCTGTAGTTACCTTTACTATTTTCTCCACATACATTAAAACCATCTCAGACAGTTTTATACTTTTTCCTTCAACCAACAAACATAACTTAGAATACTCAACAAGAGAAAAAAAGTTCCATTATATTTACCCATATTTTTACTTGCCATATTTTTCCCTGCTTTCTCTCCACTCTTCCTTCTTTTAATGTTTCCTTTCAATCTATTGAACTTTAGCTATTCTTCTGAAGGTAGATGTGGTGGCAACACAATCTTTTAGTTGCCTCAGTCTGAGAATTTCTTCATTTTTCTTTCATTTTTGACCAATATATTTCACTGTATATAGGATTCTGAGGTGATCTTTTTTTCAGCATTTGAAAAGGTTGTTTTTCTTCATTCTGAACTCTGTGGTTTCCAATGAATAATACTTTGTCATTTGAATTGTTTTTGCAGTATAGGTAATGTGTCATTTTTCTTTCTCTGTTTTTAAGGTGTTTGTGTGGTCCTTAATTTTTAGAAATTTGACTGTGATGTGTCGTGGTGGAGATTTCTTTGGATTTATCTTGTTTGGGGTTTGTTCATTTCTTTAATCTATAGATCTGTGTCTTTTATCAAATTTGTGAAGTGTTGGTCATTATTCATGTACTTTTTCAACTCCACCTTCTTCTTTTATCTAGGACTCCAATTATATGATTATTAGATTTTTTTTGTAGTCCCATAAGTCTGACTTTTTTTTCAGTTTATTTTACCTTTGTTTTTCAAATTGAGTAATTTCTATTCTATCTTTGTGTTCACAATCTCCACCTGTAATTCTTAGTAAAGCAGGTTATATGTAAGATGAGAATGTTTTAGAGAACAACTCAGCATGAAAATAATCAGATCATATTTGTGGCAATACAGGATGTAAAATATGGGGATCATAGAATAGAACTTAACAGTTCTTTCAACAGTTGGATAATGCAATTAGTACAACTTTATGCAATGTCTTCTTTCCACTGTATATCTTATTTTTAATATGATTATTTTGAAAAAACATACTAATTATATAATATTCCATTTTATGTATAAGCAATGATGTATTGCTGGGCAGTTAACTTTGTTGATAATATTGCAAGCCCTATAAATAACATTATAATGAACATCTTTGGGTTTCTATTTTTGTTAATGATCACTGTTTTTTAGTATAATTTCTTAAATGTGAAATTAGTAGCTCAGGCTGGGCATGATGGCTCATGCCTGTAATACCAACACTTTGGGAGGCCGAGACAGGTGGATCACTCGTGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGATGAAACACTGTCTCCTACTAAAAATACAAAAATCAGCCTCGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGAATCTTTCATGATAACCTGACTTTCTATAAAATATAAATTAGGACAAATGTATTCCTTGGTGCTATGGTTTAAATGTGTCCCCCAAAGTTCATATGTTGGGATCTTAATTCCTAATGCAACAGTACTGGGAAGTGGGCCTAATAGGAGGTGATTAGCTAATAATGATTAATATTGTTATTGTAGGAGTGAGTATTGTGAGAGGGGGAGATAAATTATCTCAAGAGTGGATGTGTTAAAAAAGTGAGTTTGGTCCCCTCTTGCTCTCTCTCGAGTACTCTCTAGCCCTTCTGTCTTCCATCATGGGATGTTGTAGCAAGAAGCCCCATTGCCAGATGCCAGCACTTTGAAATTGGACTTCCCAGCCTCCAGAACTGTGAGAAATAAATTTCTTTATAAATTACTCCCTTCATGATATTCTGTTACAGCAACACAAAACAGACCAAGACACTTTATCAAATTGCAAAGAAACATTGTTGTTCTAGGTTATAATAAATGTAAAAACTAGTGCAAATTTATTTTGGGCTACATGTGAAGGGATGAGATAAGGAGGGTGGATGGTGTGGGACAGAAATTCAACTGTTAACTATTATATAGATTCAAACTTGGACGTCATCTACACATAGCAATTTATTCCTAGCCAGTTCAGGGTTTATAATGAAAAAATATTTCCCTGACATATTAAGTGGCTCATATATAACAAAAGGTCATTTATGAAGGAAGGAATTACTTTGGAAATTTATGCAAACTATTTAATCACTTAAATTATGAAAAAGTTCCAACGCAATTTGGTTCCTGATTTTGTGATAGGAACATTTTTCTTGGTAATTGGTGTAGTGGCCTCATGTCAGGAGTCACTTCATTCTCCTTTTCAGAAGAAGAAAAGGGTTTATGAATGGTCTGTATTTGATTTTTTAGCACCTCACTATTCATCAGTATAAGCCCTAGATTAGATGGGCAATGGAATTTTGGGCTGAAGAAGGGAGAGGTATAGTTTTCCTTGTGTTAAAACTCTGTTTGATTAATTAGAATGAACTGCCAAGGTGTTTCTGGACACCAGTAATTTATTATCTTCCTACAAGTCTATAAGAGAAGGATTAGAGCCTAAAAGTCTGTATGGAACTCGCTATTTATAAATTTTACAGAAAAACAAACATGTTGGAAAACTGCAAGTTTAATCAGATTCTACAGGACTTCTTAGAATCCTTGTGACAGCAATATGAACTAAGAATTGGTAGGAGGGGTTATAGTTCTTTCTGTTTAATGTCTGTAATTTACATAGGGCTCTCTTAGACCATAGATTTAGGGTGACCCCAGCCTGGTTTCACAAGGTAGGACTTCCATTGAATTCTCTCTCACCAGTGTGTTCCTCGTTTGGAGTTCAGCACTGGGGACTGACTGGGCGGCAATGTGCATGAGCACATACAGTCTCAGAACATGCACTTTGGGCAAAGAGCAGAGCCCCTTTAGGTCAGGGTTGGATTTACCGTGGTGGCTCCAGTAGAGGACTGAAGCTTTGGCATATCATGTTCAATGTTCCTTCCTCTCCATCAGATATTTTTAATAAATGTGCAAGTCTTTAATAAATGTGAATCACCAGTGGTGGACATTTTGTCCAAGAATTGTCCTGAAGAGGAAGACAGTTTGGACCAGCTGCCCTGGGAAACTCCTCAGGCTACTTTACTCGAGTGCAGCCTCGCTGACTGCTCATGCTAGTGCATTAGAAGGTGGCCACGAGGACAGGCTGGCGCTGCCTGCACGGCCTGCACTCATACCTATGCTCATCGGCTGACCTCTGACTCTTTTTTTTTTTTTTTTGAGACGGAATTCTGCTCTTGTGGCCCAGGCTGGAGTGTAACGGCACGATCACAGCTCACTGCAACCTCCGCGTCCTGGGTTCAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACGCTCAGTGAATTTTTGTATTTTTAGTAGAGCTAGGGTCTCAGCATGTTGGCCAGGCCTCGAACTCCTGACCTCAGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGGGAGCCACTGCACCCGGCCTCCCCCTAATTCTTATATTTCAGCAACATGTCCCTGTAGGTCACTTCTAGTAGTCTTTGCTATTTAAATAAGCTTAGGAGCATCTGCAAACTTAGAAAGTTTCCTGCCTTTGAGATAATTTATAAAAATATCAATGTTGATTCTGGCAGAAACCCCCCATGTAGGCCCTTTATCCCAATTAATGTTTTTCAAACATTAGAGTGCCTGACATTGTGATAGATCATTAGCCGTCTCTGCTACTTTATATATTTTCTGTATCTTTATCCTTATGCATACAAAGAAACTTAGCACCATATTCCATTCATTCTAAGATGCACATTAGTTTCACATTTTAACTTTTTTATTTAAAATCGGGCATGTCTTACAGTTGAATAGCATCTTAGATTTGATGACATGTGAAACTAGAATAAATGCTTAGAGGATTAACAGTGGAATTGGAATTATCCCTTGAGTGTATGTTAAAAATAACCTGAAAAGAGTTTGTATTTAAAAGTATTTTCAGAGTTTCAATTATGCTGACTCCAATTTTTGTATCCCATTCTTCTGAATTCAGTTTCTCCTTCCAGGAGGACACCTGATAGTAATTACTCCAATGAAGTAGTGTCAGTAATGACATTGTCTTTGTTTATCTGAAAAACGTTTTTCTTTTAACTTTACTCTTGGACGGCAGTGTAGCTGGTCTTAGATTCCAAAGTTGAAGTCCATAATTACTTTCCATAATTTGAACATGTTACTTCATTGATTCCTGGCTGCTCTTATTGTGGCTTGCCATCTGCTCCCTGGCCAGTCGTTGTTACCCTGTGGATAAACTGTTTGATTCTGTACTTTTAAGATATTCTTTTTCATATTCTATCGTTTTACTACAATGTGACTTAGTTAATTTTAAAATTATAAATAAACATATTATAAATAAACTCCCTTGTAATATCTTCAAGTTTTCTTTAAAGATAAACACTTTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCATGAGGTCAGGAGATCGGGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCCTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAAGCAGGAGAATGGCGTGAACCCTGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCAGCCTGGGTGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAGATAAACACTTTTATTTTTCAAGTTTACTTTAACAGCTATCTTTAAAGAAAACTTGAAGGTACTGCAGGGAGTTTCCCTGGAGGCCACACAGTTTCCCCTGTGAGTATCCTCTTGCATCAGTATGATGCTGTTTGTTACAATTAGTAATTGGATATTCATAGATATTTTAAACTGAGGTCCGTACTTTATTCACATTTTATTGGCTTTTTAAATCCCATTTCCTGTTTCTGTTCCACGATCCCATCCAGGAGTCCATGTAGCATTTAGTCCTTGTGTCTTTTTAGGCTCCTCTTCATTGTAACAGTTTTTCAGCCTTTCCTTGTTTCTGATGATCTCGACAGTTTTGAGTAGGGCACTGGTCAGATATTTTGTAACATGTCTCTTCATTGGGATTTGTTGGATGTTTTTATCCAAGTTAGAATGGAGTAATGTGTTTTGGGGTAGACAGACAGCAGAGTATTATATGTTATCATATCATATCCAGGGTGCATAATATCAATATGACTTACTGTTGCTGTGGGCCTTAATCAAATGGCTTAAAATGGTATTCGTCAGGTCCCTCGACTGCAAAGTTACTCTTTTTCCCCTATTTATATACTGTACTCTTTGGAAGGAAGTCACTATGCACAGCCCAGGAAGTCACTATGCACAGCCCAAATTAGGGAGTGGAAAGTAGTGTTTCACCTCCATGAAGGCAAAGTGTCTACATAAATTGAAATTCTTCTTCATGGAGAGTTTGCCTCCTTCACCCCATTTATTTATTTAATCATTTATTTATGTTAGTGTGGACTCAGCAGTATTTATTTTATATTTTGGAGTGTAATCCAGTATTACCTTATTTTGTTGTTCAAATTGTTTACTGTTTTTTACCACTAGGTACTTGTTAAATTTGCTGCAGTATCCCTCTGGCTTAACAGCACTGGTGTTATTTTATTTTTTTCACTCATTTTCCTTCTTTCTGGCTCTACAGTATGTTCCAGGTTCATCTGGTATATTTCCTGCCCAACACCTAGAATCAGCCCTTTCTCCAGAAATCCTGGTTCCTTGTATTGGTGAATGATTAGAAAGCAAGGTTTGGGTGCTAGGTGGGTTCATTGCCATTGGGGCGTCATCATTTCTAGGCCCTTTCTGACAGAGCAAAGAGTTATATGTGTATATAGTAGTTCATATATACAGAAATATCTGTAAGTATTTCTGTATGTAACCGTATGTATCCTTATTAAGCTAAACGTGAATTCATGCTTAAGTCTCCAACTCTCACTCTAAAGTGAGAAAACTGATTTCTACACATGGCATCCATTTACTTAACTGTTCGATTGCAATATACATGTACAGTAGTTTCAGAATTGGTAACTTACAACTCTGTGAGGAGCAACTTCATCAAGTAGAGTGCAATGCTGATACACAGTTCCTTGCAGAATACACCCAGTTTCAAAGTTACTTAGACCAGCACCTTTTTCTCCCAGTCACGTCAGTAAGGTCGTTTTATACTTTTGTAATGCATTTGAATCCTTTTGTTACATTTTGTATTCCATTCTGGATCACCGAATCTCCTAAGTATTTGTTTTGTATTTTGCATTCATTTTGGGTTACTCTTTGTATTATAAAGTTCTATGAGTTTTGACAATGCTTAATGTCTTGTATTCACCATTACAATATGATACAGAATTCTCTGCCCTAGAAGTACTCTGTGCTCCATTTGTCTACTCCTAACCCCCACCACTGGCAACCACTGATAAATTTACAGTCTCTAAAGTTTTGCCTTTTGTAGAATGTCTTTTTATTGGAATGATACAATATGTAGCCTTTTCGGCCTGGCTTCTTTCACTTAGCACTGTGTATTTAAGAATCACCTATATCTTTCATGGCTTGATAGCTCATTTCATTTTATACTTGAATAATATTCCATTGTGTGGATGTGCCATGGTTTGTTTTTCCATTCACCTGTTATAAGACATCCTGATTGCATCCAGTTTTTGTGATTATGCATTAGGCTGCTATAAACATGTGCAGGTTTTCTGTAGATATGTGTTTTTGAATCATTGGGTAAATATCTAGGAATATAGTTGTTGTATCGTATGGTAACACTAGGTTTAGTTTTGTAAGAAACCGCCAAATCGTCTTCCAAAGTGGTGGTACCATTTTGCATTCTTACCAGCAATGAACGAGCCTTCCTGTTGCTCCCCATCCTCCCAGCAATTGGTAATGTGAACTTTTCAGATTTTAGCCTATCCGATAGGTATATGGTGGTATTGCATTGTTATAATTTACATGTCCATGATAACATGATGTGAAGCATCTTTTAATATGTTTATTTGTTATCTGTACATCTTCTTTGGTGAGTTGCCTGTTCATATCATTTGGCCATTTTTTAGTTAGGTTGTTTGTTAATGTATTGCTGGTTTCTTTCCTATATTTTGAATATAAGTTCTTTATCAGAGATGTATTTTGTAAAATTGTATCCCAGTCTGTAGTTTTTCTTTTCATTCTTGTAACAGTATCTTCCATAGAGCAGTTTTTAATTTTAATAAAGTCCAACTTACTAATTTTTTCTTTGCATGGATCATCATGCCTTTGCTGTTGTATGAAAAACCATAATCACCAAACCCAAAGTCACGTATATTTAATCCTGTCTTTTCTTCTAGTATTAGAATTTTATATTTTACATCTAGGCTTATGATCCATTTTGATTTAATTTCTGTGATAAGAATAAGATCTATGTTGAATTTTTTAGACATTTATTTTACTTGGTGTCTACTGAGCTTCTTGGATCTATGATTTGTGTCTGTCAATGGTGTTGGGAAGTTCTCAGCCATTATTCTTTCAACTATTCTTTCTGCTCTGCTCTCGCTTTTGGTGATTCAACTATATATGTGTTATACCTTTCAAAATTGTTCCACAATTTTTGGATAATCTGTTTTTTTTTTCTTTTTGCAATTCAGTTTTGGAAGTTTCTGTTGACACATTATCCAGCTCACTGATTCCTTGCTTGGCTGTGTCCAGGCTCCTCATGAGGCCATCAAACGCTTTCTTTCTTTTTTCTTTTGAAACTTTACAAGGCTTAAATTTCATTTAACTTACATTTTTGACACAACATGTTCAAATTGCATACAGGCATTCTTTATTTCTGTTACACTGGTTTTGATTTCTAGTATTTCCTTGCAATTCTTTCTGAGAGTTTCTGCTGATGTTACCCAACTGCTTTTGCATGTTGTTTATTTTTCCTTTAGCACCTTTAGCATATTTATCACATTATTTTAAATTTCTTATGTGATAATTTCAACATTTGTATCATATCTAAGTCCTGTTCTGATGTTTGCTTTGTCTCTGCAGACTGTTTTTTCTTGTCTTTTAATTGCCTTGTAATTTTTCTGTAATAAAGCAGAAATGGTCATGACATTATGAATTTAGATAAGTAGCTTTTTAGTGTGCGAATTCATGTGACAGGTAGTAGTTGGGCTTTATTTGATGTTTGCTATAGCTTTAACTGCCAGAGCCTTCAGGTTCTTCTAGTGTTCCTGTTTTTGTCTTCCCTCTTGATGTCTGTCTTCCTTAATTAAGTACTCTTTCTCAGAGAATCTACAGCTTTTTGGACTGTAGTTCACAGTAGTTATACTGGACCCCTGTTGGTGGGGTGGTAGGTGGGGATGAGGGGAAGAAGTGTTCTGTAATCCTATGTTACATGGTAGCATTGTAGTAGGCCTGTGTGTCTGGGCTCTGACCTTCACAAGTGTTTCTCTAGTGGTATAGCAGTGGTATAGCTTTTTCCCTTCTTAGGTAAGACAGAAAGGCTACAGGCTGCTGGAGTGGGACCAGTGTAATTTCCCTAGCAGGGATAAGCTCTGAGAAACCCTGGAGAGTAGGCTTTTTTGTGGAGAAGGCTCTGGGTGACCTGTTTCCCAGTGATTACTTCTCCCCTTCTCTTGCTGGAGCCACAAGGAGATCTTCCTTGCACATTTACTATGAGAACCTGGTGGAGTTTCTAGACATAAAACCCATGAAATTGTAGAGACCTCAGCAAGACTGTGGCTGTCTGGGGGCTTCTCACTCTCATTCATTGCTGGTTCACACTCAGCAACCAGAGATTCACTGAAATTACCATTTAAGCATTACCACAAGTTCATAGCTCCAGTGGCTTCTGCTTTGAGTGAGCAGATTTTGGCTGTGCCCTGAATTTCATGTCTCTCCATATTTCAGTGTGGTACTTACCCTGCAGCAGCAGTCCCTCCTGAGTCCAATAAATGTCATTGATTTTTCATTTCATTCATTTTTTTTTTTCTGTTGTTATGAGAGTGATTAATTCTAAGCTATTTACATGCCAGAGCTAAAAAATGATGGAGGTTTGAATTAGTCTTTGATTTATACTTATATTTTTGAGGAACTCATACTTCCTTAATCTGAGGAAAAGTTGGCCAATTCTGGAAATTTCTCAGCCATTATTTCTTTAACCTTTCTTTTATGAAACTATTTTATACACACATTGAATCTTTTCATTGTGTCCTTCAAGTCTTTCAAGCATTCGCATTTTCCATCTCTTTATCTTTCTGAGTTACATTTTAGGTCATTTTGTTGAGTCTGTCTTCAGCTTACTAATTATCATTTCTGTTCTTTCCAATTCATTGTTTAACCCACCCATTGAGCTTTTATTTCAGTTACTAAATTTTTCATTTTGTAAAGCTCTTACTTTTGTTTTCTTCCAAATCTGCGTTTTTACCCCTAGAATATCTTATTCTTTTACTATGTTTTTGATTTCTGTAGTGCATTTAATCACGTTAAACATATTTATTCAGTATTATCCCTCTGATATTTCTCTTGTCTGTATTTTTGGGGGCTTATTCCTCCTGACTTGGTTTTCTCTCTTTCACTCATGGAAAATGTTATACTTTATGTATTTTGTATTTTTGATCAGGAGGGTATAATCATTGTGTTTTCTATGCAACAATTTTTTATTATTATTTTCTTTCTTTTGTCTTTTTTGTGGTTTGCTAATTTGTTTGTTCTCATTGCGTCTGTCTGGGTCCTCAAGTTTTACTGGTCTAGAACAACTTCTAAGCTAATGCCATGACTTGCAAAGTTCCTAGGCTTTGTGAATTGGTTACATTTGAATTCTCCATCAGAAAGAAGGCTGATACATTTTCAGGAAATAGAGTGTACCCTGACCTGGTTCTCCACTTTCAGCCCAGAATGACACAGACTAACTTGCTTCTTTCTTGGCCAATGGTCTCTTCAAATTTCCTGGACCATGCTGGTAGAAGTAGGTGGGGGGTTTGGTTCAGCTCTCCACCTACGAAAGAGAATCTTTTCTATAGTCCCACTTAGGCATTGTTTAGGCTCTCTGTGAATAACACTGGCCACTGGTCTCCATACTCCTGCACTCTGCTATGGTGTCAGCTCACGTACTTACAATGTTCTTTTCAATTTCCTCTTGGATTTTGTTGTTGTTGTTGTTTTGAAGGATTTCTTGTGCTTTCTTGTGAGCCAAAATCAGCATTTAAAAAGACATTTGTTTGATTTTCTCCAGAATTTCCAGGTGTTTGTAGCAGGATAGTATTAACATTATAGAGTCTCCTGTTTTCTAGGACCAGAAGCAGGGCCCCCATGTATTATCCTGGCATACTTAACTAGTTTCTCTGTGTTGTAGTCACCATTTCAGCTCTAGCTATGGCTTCTTTGTTTCACTTCCATTTCCAACTTCTGTAATGGATGTAATCTCTTGGTGTGTTTGCTCTGCAGACACTGTGATTATCTTACACCGTGGTTATCTCAGGTCCTGCCTTCATGCCAGTAACTTAATTTTTTAGCTGTGTCTGTTTTGTTCCTTTCTGTTTCTCATCTAACTACGTAATAATTTGTTTTGGTTCTCAGTTTATTTGTTTAGCTCTGCAATGTTCCTTTTATTCTGTTATTTTATTAGCTCATCTTTGAAATCATGCTTAATTTGATCCAAGACTTATATAGTATAATATAAAGAACTCATGAGAAGCATGCCCTTCTTATTTGGGCTTTTTTCCAGGCTACTTTGTATATTAGTTGTGTGTGTATGCCTGGCTGCCTTTCTTCTTTGTGCTTGTTATTTTAAAATTTTTATTTATGTATATATTTAATCATTCATTCATTCATACTCATACTTCCTTCTTGTGGCTGTCATTCCAATTTGTTTTCATCTGGCCCATGCCTCATTCGTATTTTCTGTGATGTAGTAGAGATGCATTATTTTTATGTTATACTTTCCTGATTCGTGGCCTGATTTATTTTTGTCTTTGTTTCTTAAGCCAATTAACCTATATTATTTATAGAAGTATTAGAAATATCAAATAACAAAAACAAAACCAAGAAAAATAAATGACTGCTTCTAAATCCTGCTCCTAACTTCCATTCATTCATCTTATCCCCTTCCCTTTCTATTGGCCTTTGGAACCCACTTTGCACCGGTTCCATACCAAGGGCTCTGTTGGGGTCTCCTTATCTCTAACTCAGTTCCTTAGAGGACCCCAATTGTGATGAGATTTGTTGCAGCTAGCTTTTTGACAATTCATTGAAAAAGCCTGATATTGAAATTACAGAAATTTTGTAACCAAGGCATTTGTGGGAGTCTGGCTGTGTGTATAGGTGTTTGCTTTTAGTCCAGAGAGATACAACTTGTAAACACTCAAGGAAATTCCTGAAAACTGATTCAGTTGGGATGATGGCTTAAACTTAAAGGGAGATTTATCCTTTCTGTTCAAGGGTAGTTCAGATGAAGTTTGATTCCTGCTCCACTCAGTATGCCGGAAACCCAGCATCTCTCTTCCTCTTTCTCCTCTACTCCACAATCTTCCTATCACTACCCATTGTCAGCTCTGCTAATTCAAGATCGATTCCTTCTCTGTTAGGGTCTGCTCTCATGATCCACCTTCCAGGCTTCATTCCCCAAGAGGTAGGTCCTTTGAGGGAGATAGGGGGCCCTTTCTCATAGAAGGAAAGGAAACCTTTCAGTTGCAGTGAAAAGTGCATGCTTGAACTCTTCCTCCCTCCCTGAGAAGGATGGGGCAGCTCTGGGCATGGGAGTCCACCCAGCGAGAACCAAGTGGACATCAGGTTGGGTGGGGCTCACCTCCCCCGGGCAAGCTCTCTTATTCCTGCACACACAGGCAGCTGAACACCTTGGTCTGCCTTGCTCCCTTCAATCTGGCATTGGGCAAATTGGATCTGGATTTCACAGGGGAAACAAAAATCAGTGGTGTTGCCCGGATCCAGGTCCTAAGCTCAGGAAACCCACCTGCCTCTGTTCACCTGGCATTTATTCTCCCTAAAGGAGCCAGGCTGATCAGCCAGTTTTCCATCTTGTCATCATGGGTCTTTCCTGGGATTATGTCTCAAGGAATCACATGCTGACCTGTTGGGAGGAAAAAAAATATGTATATAAATATACACGTATTACACTGTGGTCTGATTTTTTAAATCCCTTAAGCCTTATACGTTGCATTGTTCTTGAAATCAGTGTTCTCGAACTGTGCAGGATTAACTTTGGTAGTTAAAAATAGAATCAAAGAGTTCAGAATCACTCTGCTGGGGGAGTTCTAGAGGCAGAAGTTTTTCCAAAGACTGCAGTCTCTGCCTCAGTGGCTCTTTGGAGCAACATCTCCAATCTCAGGATCTTCGGGGTGCTGTGTTTTAAAGCATAATGCATTTCCTCTGTTTGTCAGGTTTAACGGTACCGTCAGAAATAAGCATATATCTGTAAACAGTTCGGCTGTGATTAAGGAGCTCCAGAATCCTAGAAATAGTGAAGTTCCTTAGCTTAACCCTTTGCCAAGGTGGCTAGCTGGTGGATGAGGCCAGGATCCAAGGCTTGAAGGAAGTCAGGTTGCACACACTTTTTGAAAAGATTCTCATCTGCACATTGATGCATCGCAGAATAACCATGAACCCACTGGGAATATTAAATGCTGACCTCTAGACACTTAATTCCTAAGCCTTAATTTTCAGTGGGAACCAAACCAACCAGGTTTCAAAGATGAGCCAATAAAATAACAGAATAAAAGGAACATTGCAGAGCTAAATGAATAAACTGAGAATCAAAACAAATTATTACACAGTTAAATTAGAAACAGAAAACCAACCAGTAATTATGTGCCACCCCTAAAAATAGGCAGCCGCAGATAGTGAGGAGATATTGCCAGTTCGGGCCAATTCTCTTAGCCTTTTCAGTACCTTTCTATCAAAGGAACTTTTTTCCGATAATTTAACAGTGGAGAATTTTGCTATATTTTAGGCACTTTTCTTTTTCTTTTTCTTTTTTTTTTTTGAGACAGAGTCTTACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCAGGTTCGTGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTGCAGGTGCCTGCCACCGCGCCTGGCTAATTTTTTGTATTTTTATTAGAGACGGGGTTTCACCATGGTCTTGATCTCCTGGCCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCGCACCCAGCTCTTAGGCACTTTTCTTCCTGCTACCTATTCAGTCCTTGCAGCATGCTGCAGAGAGAGCAATTGATAGCCATTACCCTTGTTTTTACAAATAAGGGAACTGAGTCTCAGAAAAGTTCAGGGGATGGGACTACCCCTAGCCCACATGGCTAGTGAATAGCAGAGCCCAGAGCCTGTGATATCTATAGTTTTCACATTGTGTCCCCAACAAACAGACCCTGAGCAATCCCAAAATGTGAGCAGAGGTAGAGCCGAGCTCTGTATCCCGAGAGGGCCAGGCCCTGTGGTACGAGGACCAGGATGGTCCTAGAAATGCCAAGCTCCCCATCAGCAGCTCTCAGACATCCAGGCTTCAGGACTCCGTTGCTCTCCTTAACGTTATTGAAGATCCTCTAAGTTTTGTTTATGTGATTATATCTATCAATATTTAACACATTGGAGATAAAACTAAGAAGCATTTTAAAGTTCAGTAATTCACTTAATATAATAAGGCCATTCCATAAATAGCAAGATGTTAACATAAATAGCATTTTATGGAAAATAACCATATCTTCACCCAAGAAATCAGTGGGAAGGGTGGCGTTGCTTTTTATTGTTGCAAATCTCCTTAATGCCTCATGTAATAGAAGACATCTGGACTCTCTGACCAGCTTCTGCATTCAGTCTGCTGCTGGTCCCTATGTCCTGTAGCCTCCGCAAACCTCTATGGAAGACTCAAGGGAAAAGGGGGATGAAAGAGGGAAATAACGTCTAACCATTATGAAAAAAAGATTTGACTCACTGGTCCTCTGAAAGCATTTCAGAAACCCAGGGGTTCCAAGCCCATACTTTGAAAACTTCTGTCTTGTACAATTACCAAAGGGAATTATTTTCCGTGATCGTAATCACAGTGTTTGCTGTTACAACAAGGAGGACAGAATCACATCATGGTTCAAAACACAAGTGTTGAAAACTAAACTTTATGAAACTGAAATCCAACCCCCTAACCTCTTAAACAGGTTTCTGTACTTAGCTGTGTGACCTAGGGCCAGGAGCTTGTTTGTTTCATAATTGATATATTTATGCATTCCTCTTCTCCTTTGATTATAAAGGTAATACCTGCTCATAGCAAAGCATTCAAACAGAAAAGAGACATATAAAATTAAATTTGGGGGGTCTCCCATAATCTCCATTATTAAATGAGAAAAATAATAGTATTTATTTTGCTGGATTATTGTCGTGAAGCCAAAATGCGTTGTTTGCGTGTGCATGTGACATTTAGAAATGCAAACTCTGTTTAAGGGTTAGCTTTGTTATTTTCAGGTATCGTCAATACCTGATACCTGATATTTATTGATATCCTCTTGGTAAAGTACTTGTTCATCTTTTGCCCATTTTTCTATTGGATTGCCTGCCCTTTTCTGATTGATTTTTTGGAGTTTATTTCTTATTCTGGATATGAGTCTTTTGTCAGACCTACTATCTTGCTGACTCAGGGAAAACCTCAGTTTGTTATGCTGTAAAACTAAGAAAAAAATATGGTTGGTGTAAAGATTAAATTAGATAAAAGAAGTCACCGTTTATAAACTTTAGACTGCTACACAAATATGAATTTATATTATCCAGCTATTTTCTCTGCAAACAAGAATTTAGAAATGGTGGTGGTTAGGTCTATTGTTATGTTTTTGCTTTTTTTTTTTTCTCAGCATCTACACAAAGGAAAAAGAAATAATGTGATGGGAGCTCTGTAAAATCACATGGAATGATGTTACCCAGTAATTCACGAAAGAATAATTGCTGCAGAAATGCAAGATAGCACATTACGCATTACCACGACAGTTGTACTCTAAACCAGATAGACGATTATTCAGAGAGATTGATTTTAAAAAGCACGATCACTTAAATCAAAGCATGCTCTCAACTGAAGAGCTCAGATGGAAAAAGAATGAAGGGAGTTAGGCGCGTTGACTCGAGGGTGCCTTGCCACACCGGCCTTCTGGGATTCTGTGGCGGGCTGGGGACCCTGCCTCCTCCTGTCTTCATCCCAGAGGGAGAGGGGAGTGTAGATCTTGCAGGAGAGCCGTGTGTGTGAGTAGCCACGTGGTGACAGCCATTGGCACTGAGTGACATCGCACAGATTGCAGCATGCTCCTCCTCTTCCCACCTGCTGTAGCAGACAGGGCAGCTGTTTGCATCCCTGTTTCGGAGGAGAGAACATTGAAATGCACAGAAGCCAATTGCCTGCTGAGTCGGGAGCCCCCAGGGTCTTTTGCCTGTGTGGACTCTGCTCCTCCATGCCCTCCTGCCCAGTTGGGGAGGGCAGGAATAGCCAGGGGGGCAGCTTGAGGATCTGGAATTGCTGAAACCCACTTTCACAGTGCAATGGTCTGAATGTTTTTTTCCCCCACTAAATGCATATGTTGAGATCTGAATCCCCAAGGCGATGGTATTAGGAGGTGATTAGTCCATGACGGTGCAGTCATGATGGATGGTCCCCATATATACAAGGCCCCAGAGACCTCCCGCGCCCCTTCCACCATGCGAGGACACAGTGAAAGGTGGCTGCCTATGATCCGGGAAGCCAGCCCCCACCAGACACCAGGGTTCAACCATAGTGGCAGGTTAATCATGGACTTCCAGCCGCCAGAACTGTGAGAAACAAACTTCTATTTTTTATAAGCTACCCAGTGTATGATATTTTGTTATAAGCGTCCAAATGGAATTAAACATAGAGTCTGTGCTACTTAATTGCAGGCCCCTAGGTTCCTGTGGAATACTGTTCTTCGGGAGACTAAATGTGCATATTTATTCACAGGCCTCTGGGCCAGGGTTGGATGTTTCTGTCCCCTCTCTTGCAGGAACCCCCTTGTTTGACTCGGGTGGCCTCCAACTTGGGAGGGAGTGACTGCTGTAGGCAGCTCTGCCTGCTGATTCATGGTTTCAGGCTCAAGTGCTGCATGGCAGGCTGGGGGCTCTGGCAGCAGTGAAGGATATTTGGGTGAAAGAGAAGGAAACTTCCCTCCTGGGGTGAGGAACTGGATTTTGTCCCTAGGTAAATTCTGGGCAGTGGGAGTGGAGCCCCTGCATACCTGCCCTGAATGTCCTTCTGCCGGGGGCCAGAGGGCCATGTGGGAACTATAATTCCATCTGGGGACTTTCCACACTCAGAGGTGTGGCCACCATCCCCAGGTCTCCCAGTTCACCTGCAGCCTGTGTGGCCAAGTACAAATCCCGAGGCAAGGAAGTTGAGTGCAGAGCTGAAGTCCTCCCCCAGGTCCTCTGTGCAGAAGCCTGTCAGGAAGCAGGGGGCTGAGCTCAGCTTTAGTGCAGCAGGGTCGGGACGTGCTTGCCAAGGATCGAGGAAGGAAAAGGCTGTGGGGAAAGGGGAGGGGACAGATGGACTCTGAACCTGCTTTTGGAGCAGCCTCTGGGGAGGGAGGGCTTTTCTTGCCAGCCGGTCAAGGTCTTATAGGAGAAGACACGGCACCTGCAGACCTATTGCTGCCAGAGTCCCACAGAACCTCTTTGAGAAGGGGGAAAGGGGTCAGTCAAGAGCCATTTTGCAAATGAGGAGACTGAGTCCTGCAGCAACTGCCTCTCATCTGTGGTCACAGGCGTGGGGGCCTGGAGACAGTAATGCCTGGATAGAGCCTTGGAAAGCAGAGCTGGTGGTGGGAACCGAGGGATAAAGGCTCAGGACTGGGTGCACATGGTGGATGTGAGGGGATCCACATACTGTGGTATTGCAGGATCACAGGTGGTTAAAGCAGAGGCTCAGCCCCAGGACGCCACCCCTTGTCACTCTGGGTGAAGTCCATGTCCTTGTCTTCCTCCTTGTAGGGACCCTGTTTTCCCTCCCTCCGTGATCCTTGTTACCATTTGTTGTTATATGTTGTTATAAGTGTATCATTATTGTGTTGTAGAATCCTACCTCATCCCCCCCCACCAACACACACACACACACACACACACACACACACACACACTTTTTATTCTAGGAGCTCAGGAGCAATATTAATTTCCACTGCACACATCAGGCAAGCATAATGCTGGGGACAGGAGGTGTTCCATAAATGTTGCATGAACGAATGAATGAAAACTCGGCTGGACCATGGCTTGTAGCAATGGCTTGTGCACTTCACTCAAGATTCTTGACTTGATCCTTTGGGCAGTGCAGTTGGAGGAGGGTGATCTGATCATATGGATGGTCAGAAAGTCCGGTGTGAAGATGAGTAGAGGACAGCCTCTGTGTGTGTGCACCTGCGTGTGCATAGGGGCAGCAGGCTGCACAGTGGGAATGGGAAGGAGGTGAGGGACCTTGTCACTGCAAACAGAGAGCCAAGAGACTCAGACCGTGTGTGGCCCGGACAGGTGCCAAGAGGAGGGAGATTGTTCTGGGAGCATGGTTCCTCATGCCCTCCTCTCTCCCTCTTGAGTCTTTGTGGGGGGTTCCCCTAACGGGTATCCCTGCATGCTCAGGTGGTGGTGGCTGCTGCTTGTTGATTACAGTTTGAAAAGCTGCACTTGGTCCCAAGTTGCCACACACCACTGAAATTCAGTGTTCTCTAATGGGGTTTCTGTTAGAATGTTGGAAAGAAGAAAGCCTTTTAATTAGATTCGTAGTAATTGAGCTCCCAAACCACAGAAGCCTTTCTCTCAGCAGATGAAGACACAAATGCAATTAAAAGAAGGAAAGGCACCTAAATGGAACCCTTGCTAATTTTAAGTCCATTAAAAACAACAACTCCTTAATAAGTTGAGGCAACAGATACACGTTCTGAAGAGTTTTAACAGTGCTTCCCAATAATATTGGAGCTTGAACTGGAACTGGAGTGCTCCAGCCACTTAAATGGATAGCTCTGTTGGGGATCATTTGCTCAGTGCAGAGTACAGAGACATGTTAGCTCTACAGCTTTTCCCACCAAAAACTCCTGGCACATTTTATTAGGAAAATGGGATATATTTTTTCCTGTAACTGAATAAATGTTCAGCATCTTGTGGACATTGCCTCTGGCCTGGGGTCCCCTGAGACATCATCCCATGTCCCTCCCCAGGCAGCCCTCTCCTCTCTGTGGGATTTGCCCCACCTGGCCCATCTCACCCCAGAGGTGCCCAACATGTGAGCAACTGGGCTGGGGCACTGATGTCCCTGTCAACTGCTTACATGCTGAACGCATTTTCATTTTAATGAGAGGCAGCATTCGTTTTTCATTTGCATCCCTGCTCACTGACATGCCCCAGCAGATGCCACGTTCTTTCTGCCTTTGGGTCTTTTTTTTTTTGAAACTTCCCATCGGTGAACCAGGCCAAGTAGATTCTATTGCGGGAGCTTGAGGTTTCAGCTTCTGGGAACATCTTCACAGGGGCATTAATTAATATTTTCCCTGGAGAGGGTGTCAATTGCTAATTCACAGAGTCCTTTACGTTGGAGTTGATTATTTCATGCTGAATCACAACATTCTCAGTATGACTATTGTACAGAATTCACTCATTTGCCTCCTTTCACTGGGCTTGGTCAGCCGTACTAAAACGCAAGTTGCCTCCCATTTGGAAAGGCCAGTCTTGACGGGTCTCTTCTCTGTACGTCCTGTGCTGGAGCAAAGTCACAGCTGGTACACTAGCCAAGCTCCCTGATTAGTGCATAGGCTTAGCTGGAGGCAGAACTCAGGGAGGTGTTTTGGAAATGTAGGAAAATAAGCTCTGGAGTCAGAAAGATCCAAGTTTGAATGGCTGCTTCTAAAGTCACCTCATCTTTCTCACCTTTAGTTTATCACCTGGGTAGGCTTTACCTTCAGGTGTATTTCAAGAGCCCGATGTGCCTCCTAGAAGTTAGAGGTTGAGAGAAAAGCCCAGATCTGCAGGGACAAGGCAGAGTCATGGCCCTCATGGCACCACTCACACAGGGTGCAGCAGCTCCACACAGGGCCATGGCCCCTTTCCTGGGGGAGGGAGGCATAACATACTTGTATTTGTTTAAAAGCATATATATTTTGGAAACAAACCTGACTTTAAAAACTTGTATTTTCACCTACTTTTATGTTTTTTTTTAAGCATATGAATTATTTAAAAATACAAAGATAAATAGCTAAATCATTAGCAGGCATCATTTCTGGATGGTAAGGTTGCAGAGTTTTAATTTTCTTCTTTATACTTTTCCATCTTTTTTAAGTGCTGTATAATAAATGTGTCTTACTTTGGAATAAATAGAAAAGCTTAACTCTAGGGAAATGCTGCTTGCATATATTGGAAGTGCTTGGTGCATTCTAATTTCCACACACAACAACGCTCTCGACAGTCAGATCCCCATGTGAATAATTGTCTCATTCTTTCTTTTGTAAACCATATTATTTATGCTGCTGCTTTTTTTTTTTTTTTGAAGGATGAGAAGAACCAAGTTTTAACCACCAACATTTGGCTGCAAATGGTAAGTTAAGAGAATGACAATCTCTCCCATGGGCTGCAAGATCTTGCACCCAAGATTCTTGTTCTGATACCTGAGATGCTTGCTTCTGAGAGGTCCTGTTTAGGAAAAAAAACCAAAAAAACAAAAGGCCATGGCTGTCACACCAACTCCACACCTGCCAACAATGAATGCTGGCTGTATGACACTACAGTCTGCAGTGCTCAACACATGCACAAGATCAACACATAGGACAAGGTAATGTGGGGACACTTCAGAAGCACTTCAGGCAAGACAAGAAGATACAGGGCTGTGTGTAGATGTCCACAACCTGCACCACAGCCAGTCCCCAGGACTCAGAAGCTCCATCCCTGCCCTCTGTGGCCTCCGGAGCTGCATGTTTGAATCAGGTGGAGTGTTCCGAAACCAGAGGCCCTCGTACTTTGTGCTCTAGCAATGCTTATAAGAATCTTGAAATGCTACCTATCATTTGTAGATTTTTAACTTGACATCTGCAATACTAATCTAAATTTGATTAATTGCAAATGATGCCACTTAACATCCAATTGTAAATATTAACACTGAAAAATGAAACAGTCAGTCTCTATTTTAAATGGAATTCAAAATACCATAATAATTTGGTGCCCATCTCATTCAAACACCATATGAACAAGCCTTTTTTTAAACTGTCAGATATTTAACGTAGTCCCTTTTTTCTCTTTGCACATGCATTTCTATTCTAGTTTCTATACGGAATTTTATCCTAATGTAATATAATTTTATGTTTGAAAGTCTCTTTTTTGTTTGTTTGTTTGTTTGTTCGTTTGTTTGTTTGAGACAGAGCCTTGTTCTGTCATCCAGGCTGGAGTGCAGTGCAGTGGCGCAATCTTGGCTTACTGCAACCTCCGCCTTCCAGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAACAGCTGGAATTACAGGCAGGCACCACCACACCCGGCTAGTTTTTGTATTTTTTAGTAGAGACAGGGTTTCTTCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCAGGGCCGAAAGTCTTTTATTAATCGTGCCTTGGTTTTTTCAAATGTAAATATTTACACAAGAATTATTCCTTTACACCGTAAGTATTAAATTTTGTTTCTTTTGGATTGATTTAAGTTTGCTATTGTTATTGGTATTATAATTCATCAAGGTGACATAAATTAAAATTTTTAAGTAATTATAAAACATAAATTTTTATTGGCAATTTATATCTCTGCCCAAGATGAGTTTGTTTTAAATTAGTTCATGTATCCACAGATGACTTTTTATTACTTGAATGGAGAGAATGATAGTTTTCACTTCAATTCTGTTGCTGTTTTTTAACTAGGTGTAGTAACATGAGTAGTTGGACATGAAAGCCACTTTGTTAAAGCAATGTTACTCAATCTTTGAACTTCTTCTAGGTTATATGCCAAAAATAATGTAGTTTTTATCAAATGTATCAGCTGACAGCTTGATTAGTTTCTCCTTCAATTTTGTTGAAAACAAAGAAAAGAATTTAAACCCACCTGACCTTTGAAAGTATTTGCCACCCAATTTGTAAGGTAATTCACACAGACACAAACGCTGATACTTGAATTGACCATTTGTTTGGTTCTTGAGTCAGTGTCCCAAGATGGGAGTTGAGGTAAGATAAGAGAAATGTGCCCTTCTTTATAAAGTTGAATGGGAGAAGTGAAAATGGAGGCAAAGGATAGTCCCATGTGGTTCTTGGGCAGTTGAGTTATCCTGCGAATACACGTGGAGTTGAGGGATAGAAAATGGATCTGCATCCAGCCTGGCCAACATGGTGCAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCTGAGCCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTACAGCCTGGGGAACAGAGCAAGACTCAATCTCAAGAAAAAAAAAAAAAAGAAAGAAAAAGAAAATGGATGTGCTTAAAGCCATTGCTAGGTCTCCAAGGTGCACCCATAGCTACATGTGAGACTCCTGCAGAACCTAACATTAGTCAGGTGAGAGCCCTTGAGATATTCCCTTGCAGGATTTAAAGCAGCATACTTCAGTGAGCATATCCCTTGCCACCTACTCTAGCTTCCCTCCTTTTGCCCAGGACACATGATCTGTGCTCTCCTGGAAGGCCCAGGCCTTCTTCCCATGGACAGACTCATCTCCTGGCCCCTGCTGAGAGCCTGGCATTAATGATTGTCCTCGCTGCCAGTAGCATCAAAATAGTGTCCGTGGGTCATTCTCACTCTTGTCTCTCCCACAGACTTTTCATTTGGATAAATGTTAAAGCCATGGATCCATTGGCTCAAACCAAAAACCTTGAAGTCACCCTTAACTCTTGTCTCGCACACCTCACCTCTGATACATCAACAAATCCTGGCAGCTTGACCTGCAAAACCGATCCAGGATCTAACTACTGGGCATCAACCATGATGCTTTCACCCTGGTCTACATGGGTGTCATCTCTCACCTCCATTATTAGGAGTCCCCATCCAGCCTTCCTGCTTCAGTGTTGCCTCTTCTGGTGGTGTCTTGTCCTCAACATAGCAGCCAGCATATACCTTCTTGGCACAGATCCCTCCAGGGGCTCCTGTCTCCCTGGACAGCATAGGAACTGAAGTCCTCGAAGTGGCCTTGGATTCAATTCCCTCCTTGCCTGGCTCCTTTTTCCTCTCCCCTCCCCTCTGTTCTTTGTTTCCTGGCTGCACTCACTGTCCACTTGTTGGGTGACACACACGTCACCCGAGCCCGTGCCCCCCCCTCAGGGCCTTTGCACTGGCTGCTCTCCCTGCCAGGAAGACTCGTCCCTAAGAACCACTTGATTTCCCCCTTACTTCTCACTGATCTCTTCCTAAAGGTCAACTCTTCATTGAGTCTTCTTTGAGCTCCGATGTACTGTCCCAAACCCTCCCCTCCACCTCCAGCCCACTCTGTTCTCTTTATCCTGTTTCATTTTTCTCCCAAAGGCTTCTCACCATGTAACCCGCTTTGTGTTCACTCGTCTATCTGTTCATTGGTTCTGAGTCTTCATCACCCTTAGAATGTGTGCACAGTGTGGGGGACAGGGCTCCAGGTGCATTCGGTCACTGCCGTACCCACAGCCCCTAGTTCACTGTCTCACCTGTAGCGGGCACCAAAGAACTTTTGCCGAATGAGAGAATGAAGCAAAAACTCAAGGTGAACCTTGAGGTGCTTGGGTAGCGTGACACAACATAAAGCCATCTCCTGAATGGCCGTGCAGCACTTTCGTACTGTGTGTATAAGGCCAGGCTCCGGAGAATGAGGCAAGTGCTTCCCTTTTTAATTAAAGTTGGACGTTTGCCATGCCCTCTAAGGAACAACGCTGCTGTTGACATTTTTCTTACAGAGAGAAATGCATGTTATGGAGAGGTCTCTCTCCCTGGTGCCTATCTTCCTTAGCCCTCAGTAAGTGACTGGTCTTCAGCAATGTATATGATTTGGCAATTTTATTTAAAGGATGGTGGTTTCCAAGAAAAATGTAACTGGATTATTACTTCCAGTATGGAATTCAGATGCTCCACAAATAAACATCCTTGCTTCAGAGGGTGTCACCAGAGACCTCTAAATTTATTTCAAGCACAGCTAATTTTAATTAAGGCTTACATTTGCAGAAGCATCTGCAGCTTCATTTGTTTGAAAACTCACCTTTTAACTCACCTCCTCTTGGAGCAACCTACTCTGTGGAAGGTATTAAACTGGGCCAGGTGAGGGGACCCAGAAATACATAACCCAGTTTCTACCTTTAAGCCATTTATGATCAGGCTGTGTAATTAACACGTTTAGAAGAAGGAGGCGGAGGAGAAGAAGAAGGAAAAGAGGAGGAGAAGGAGGAGGAGGAAAAAAGGAGGAAAAATGGAGGAGGAGTTGGAGGAGGTGGAGGAGGAGAAGGAAAAGAGGCGGAGGAGAAGGAGGAAGAGGAGGAGGAAGAGGAGGAGAGGAGGAAAGGAGGAGGAGAGGAGGAAAGGAGGAGGAGGAGGAGGAAAAGAGGAGGAGGAGGAAATTAAAATAGCAAGAACAAGTATCTCCCCAGGGATATTACAGATGACAGCTGGTGGTCAGATAGTAGAGGCCAGACGTGGGAGAAATCTCTGCTTTAAAGAAATGGGAGAGAAGGAGAGGCACAAATTCTCCTAAACGTGAAGATCTGGGAGCACTGGCATTTCTGAGTATTTTGTCATTAATGTTTACTTTTAGGTGCCTACCGATTGAGAAACATGCTGGATTCCCTTAGAAGGTGTGCCCTCATAAAGCTGGGTGATAACATTTATCTGGAAAGCGGCACCTGTAGATGATCTAGCAGTTGTAACACTGTCTCCCAACTGAATTTTTAAGGGCTCACAAGAATCCTGGGTTTAAAACAAACCTTAACAGTCATCTAGCCAGTGCCTGTGTCTCTCTGCTCCCCGCCCCCACCCAGTGTTTCAGTCTGGAAGCCCTGGCATTTCTATTCATGTCCACAGCATGGACATGAGGAACTCAGGAGTCACCAGAGCAAGCTTGGATGCTGCCCAGAGGCCACTTCTAAGCAACCTTCCATTGATTGCTGTTCTTGTGTTCCCTGGCTGGGGACCAGCCTGGCTTGACCCAGCACGATAATGGACATGCACAAGTGAAGCTGGGTACTGAAGGCTCTCAGGGCCAGGGTTCTGAGGGGGGTGCAAATGTGGGCCGGGGGCAGAGAGCCATAAAAACGGCTCTAGCAATGGGTTTTTCTCCTCCCGAGTTTCATGTTGCTGAATTCCTGTCCAGAAAATCTGAATCCACATAATCTTTTCTCTAGGGTATTTAAACTCTGCAAATGATACATTTTCTGTTTATTAAAAATGGAAAAGGCAGAAAGGTAAAAAAAAGAAAAAAACTCTCCTTGACCTCCAGTTTGTTGGTTTTGTTATTCTTTCTCCCAGTTGCCCTTGATTTTGATCATTCAGAAACGTGAGGGAGGAGAAAGAGGCTTCATCTCTCTGTTCACCTCTTCATGTTCCGAGGAGGAAGCAGCTGGTTCCTCTGCAGCCGGTTCCTCTGCAGCCAGTTTTCTCTGCAGATTAGTTTTTATCATTTTGAGAGGGTTGTCAGACATAATCTGATTTAATCTATGAGAAAAAAATGACAGAAGCCATTTCAGTTTCTGAAGAGACATTTGAACCATCCAGAGACTTACATTTGCTTTTAAAACACCTGTCTTCTGTCATTTTGCAATTGTGACCATTCTCCTGGCATTTGATGTCCCAGCCTTCCTGGGTCCTTCTCTAACTTTAACCTCCTAATTCTAATTATGGTACTAATAGCATTCACACCATAGATGATAAGATTTTAAGCTGTTATTTTTTCTAAAATATTTACCTTTTTAATTTCTGCATTCATCATCACTTGATCTCTGACACATGGAAATGCCACGCTTCCTGTTTACAGACAAGCCGGCTAGTGGCTTGCTTAGGGCTGTGATGGCATCTCAAGGTGAAGAGCGATGTGTCAATCATTATGTCTCACCAAGAGAAGAAAGCGTCAGGGTCAGTGGGGTGGAAAGGCTGCTTTCCTCCACTAACAAAATAATGGACGGGAATAATTTTGAAAAGATAAGTGTTTTCTGACATCAAACGTGTGATGACTTTTCTAGCACCAACAACCAATTTTCCACCAGCAACTGGGGGTCCACCAATTCAATTCATTTCTCACATTATCTACCTGGAGTTGCATCAGATCCCACAGGTTAAAGGGCTCAGTCTCACTTCAGATACCAGCTGCAAATGGTGTACCCAGGCTACCCACATGTCTAGCAGGTGACTGAAAATTCGAGGGTTCCCATACCCTTCTCCCCCAGGTTCAATAACTTTCTAAGATGACTGACAGAGCTCAGGAAAATACTTTGCTTACTTAATAAAATTTTAAATAATATACAAACTTATTTAATATATTTATAAATAAAATATATTTATTAAATAAATATTTAATATCTACTTATATAAAATACCCTGGAGAAAAGATTACATGGATTCAGAGTTTCAGAACAGGAATTCAGCAACATGAAACTCGGGAAGAGAAAAACCCATGACTTAGGTTTATTGGCTTATTCTAAAGGATGCAGCTCAGGAACCAAGTGGAAGGACGCAGCGGACAGGGCGTCGTGGCCGCAAGGGTGCGCGGAGCTGTTGTCGTAACTTCTCGCCAGTGGCCACCTTCCCTGCAAGTGGATGTGCTGACCAAGAGTGTTTATAACCCCGTCTCGAGCCCCTTTCTCACCCCTCCCCAGAGCTGTGAGTGCAATGGGCAGAAAGCTCTTTACTCCAGTCACTAGGTGACCAGCCCCCATGAAAGCTATCTAGGTGCCCAACCCTAAGTCACCTCATCAGCGTAAACTCAGGCCTCAGGCATGGTCAGAAGGGGCTCTGTATGAATCACAAAAGACACTCCTCTCACTCAGGAAATTCCCAGGGCTTTGGAAGCTCTGTGCCAGGAAAACCAAATCTATTTTCTTATTATACCATAATGTATTTTTTTAATGAAAGATAACTTTCCTTTTTCCTCCCTCCCTTCCCCTCTCTCATCCCTTTCCCCTCCTCCGCCCTCCCTCAATGCTTCCATGCCACTAGCATCCACACACATTTAGAGTTTCCTGTGGGCTCGAAGCAGCACAAATAGGGCCCAGGTGCCAGAGCCATGGAAGAATTGGGATTCCCCCAGTGCCTTTTAGATCAATGGCCCCTTCCTCCCTTCCCTTCAGTGTCCCCTCACAACTCCACACACTCTTCTTTTGAAGATTTAATGAGAAGGAATCTCACAAAAGGAGGGAGAGAAGGAAGAGCACACACTCCTCTAAATGTGATTGTCTGGGAGTCTAGGTTCATTGACGCTTCTTTTCAGATCCCCACTCTGTGGAAAACGTGTCAGGTGCTGTCTACAAAGATTTTGTCTGATGCCCCCTGTTCCCGAGGGACCTAGGAACCAAGTGCTTTCAGAGAACAACCTTTTTTCTAGAAGTTTGTTGTTTGTAGGGCCTTATTCCATATCCATTCTTGGGAAACCGTCATGGGAGCCTGTGGGGGTTGCTGGTGGGGCCCCCGGGCTCAGGATTGTGGACCTGGGCTCCAGGGCACACAGCATGAGGTTCCCACTGCATGTTGGCACTCAGTCTTCCCCACCCTTGGCTGCAGCTATGTTATGACTGTTACTACAGCTCCCAAGTCCAGCAGGATTTTGTAAAATGGGGAAATCTCTCTCTCTTTTTTTAAGCCACCATTCATCACTTGCCTGCCAGGGCCATATGACTTTAATCTGCTGCTGCACACATTATCTCATCTCATCCTGTGAGGCAGGGTACATGTAAGGAAACTGCAGTTCAGAGACAATGATTTACCTGAACAAGCTCACGCCGCTAGTCTCTGCCAGACCCTTGGTGCAAACCCAGGTCTGTCTGATGCGGATGCTTTTGGCAGCTCCCCCTACCTTTTCTGCCACTACGGTTACCTGAAAAGGGTTCCGATCCAGACCCCAAGAGAGGGTTCTTGGATCTAGTGTGAGAAAGAATTCAGGGCGTGAAAGTAAGTTTATTAGGAAAGTAGAGGAATAAAAGAATGGCTACTCCATAGAGAGAGCAGCCCCGAAGGCTGCTGGTTGCCCATTTTTATGGTTATTTCTTGATAGGCTGAACAAGGGGTGGATTATTCATGCCTCTCTTTTTTAGACCATGTAAGGTAACTTCCTGATGTTGCCTTGGCATTTCTAAACTGTCATGGAGCTGGTGGGAGTGTAGCCATGAGGATGACCAGAGGTCACTCTCGTGGCCATCTTGGTTTTGGTGGGATTCAGCCGGCTTCTTTACTGCAACCTGTTTTATCAGCAAGGTCTTTATGGCCTGTATCTTGTGCCAACTTCCTGTCTCATCCTGTGACTTAGAATGCCTAACCATCTGGGAATGCAGCCCAGTAGGAGGTTTCAGCCCTGCTTTACCCAGCTCCTATTTAAGATGGAGTTTCCCTGGTTTAAATGCCTCTGACACAATGGTCAGCCTGGTTTGGGGCAAGGGAAAACAGCAGATGGGCAGCAGCATCAGGGAGATTGAGCCAGAAGAACCAGCTCTGGTAGAACCCAAAGATCAGTTTGCTTAAAGTCAAATAACACAGGTAAGCCCTGACCCAGTGACTGACTAAAACATCCTAGCTTTCTGAACCCTGGCGTCCTCTTGTAAATGGAAGCAGTCATATCACTGACCCCCCCGAACTATGGTGAGTCTGCTATGGTGAGTCTGGACATACACAGGACACTGGACTAGCATAAAGGCTGTGATCTGGCCGGGGAGGGGATGAGCCCGTGGTTTACGCAGTGGGGTGTGCGGGGTGTGGGGAGGCAGCGTACAGCTCTGGCTGTGCCTTGGACGAGGTCTGGGTTTGACCATCCAAGCACTCCCATTCCCATTCCCAGTTCCTGTCTCCCCTCCCTCTCTGGCCATCATTCAGCAGGCAGAGGAGAAGGAGAGAAGTGCCTTGGCCTACCATGCCCACTTTCCAGGGCAGTTCGTGGAATCTTGGGGCCCTGACCTGTGTGGTAATAATGGTGAACGTGACTGGCTCTGTGATAATTAGTGACCGACACAGAGAAGCATCCCAGGGTGAGATGCAAGACTGTGGCACAGAAAGCACAGGTGTTGGCTGTGGCAGGGCCTTGTGCCCAGGGCAAGGGAGAGAAATGAAGGGAAGCACAGGGCAGAGGTGCCAAGTTGGAGCAAGCTGCAGGAAGCATGGCTTGGTTGGTGCCCAGGCATTCCTGGAAGACAACTAGGACAAGACCCACCATTCCTGGGTGTGCCCCTCCTGTCCCCTCCCCAACCACTTCCATCTCATTAGAGACCCCAGCAGGCAGCTGTCGATCCTGAATGCCCCAGAGGATACTTCTGCACATCACCCATTAACACATCCTCATTCCTGGAGGTCCCTGGCTGCAAAATGATGTCACTCACCTGGATAGTTCCTCTCCTTTGATGTCAGATTAGATCCTTCCAGACTTGGGACCATCTTTCTGGATGCTGCCTGCCCTCCTCAGAGAATGGTTGGTCTGGGACATGCCCTTTGCTTCCCTTGTTGTATCAATAGCTCTAGGCCCACAGCCCCTCATCTGCAATTCCCAAATCTCAGCAGCTCTGAAAATTTTTCCCCCTCCTTTGATGTTGTTTTCGTAACTTTGCGTCAAATTATTTTGGTCTAAAATCAAATTGAAATCTATGTGAATTGAGGCATTTATTTGTCTCACTTAGTGCAAATAGGCATGTTTTGCTGCAGAAATTACCATGTATTTGATTGTGAGGAGCCACCCTGGTCCCAGGTTGGGGTGGTGCATCACATACCTTTCTGGATCTTGGAAAGCCTGAGCTTCAGAGCATGGGTGGTACCAGGGGGACAGAATACAGGATAATGGTGCAATTATAGGAGCTTCTGGGCTCATACTTGTCAGCCCTGAGCCTCCTGTGGGGTGGTGCTGGTTATGTGGCAGCTGCAGGTGGGATCCCACCCGAGCATCCTCTGCAGAGCTTGTGGGCTCCAGGAAGGGCTGTTTAGCACCTGATCCTCGGAGGGATGACCCCAGACGTGGGTATTCCTCTGGCAAAAGTCACTCGATAACCTCAATTAAGGCCTGGCCGTGAGCTTGTGTGAGTGCTTCCTGAGTCTTCACCTGCCTCCTTTCGTCCTGACTCTGCGTTTCACCATCAGGGCTCAGGATTTGCATTGTCGGGTGTCGGAAGCACTATCCCTGTGACAAAATAAAAATTCAAATCTGAAAACATTCCTTTAGAAATTCTGAGAGGTTCCCATGCAGCTGCACAGTATTGCTTTATGGAAATAAATATTCCACATTTCTCCAGCCTGGTTCTTAGTCCAGTGGAAATAAGTGAATTCCTTTTTTCGAAGTATTCTTACAGTGAAAACTTCTAAGGCAAAACAGTTATTCATTTGGCTAGAAGTAACCCATCTACTGCAGGAGGAGAAGGCTCGGGGACATGCAGAGGGTTGGAATTAACTTTAATGATACCATCTGAATGTGTTCATGGTGACAGCAGAACCTTAAATGTGAGTTTTATGCTCTTCACAGTCATTTTGGAAAGGATTTTTGAATTCCCATTTTCATTATATTTTATAAATAGCAATTCAGTTATAATAAATGTCTGGAATTCTCTTTGGTTTTGCACTTACCTAATAATCGCTTATGAGAAATATTAGTAGCCAAGGAAGTGAAGTGCTGCTAATGTCATTGTGTGTGTCAGTCTTGGACAGATCACTATTTACAGTGGAATGTGTCAGAATATCCAGGGGTGAAGACTGTTCGTTTCCCAGATGGCCAGATTTGGAAACCAGACATTCTTCTCTATAACAGGTAAGCATATTGAACAAAGGAAAAAAATGATTTTATGCTTGCATACATGTAGCTATCACGTATATTTGAATATTTCACAGAGATGCTGGATATGTTATCTATGATCTGGGGCCACTGCTCCCTACACGGCTTTCCGAGCGGCCAGGCCTTTGAGAAGCAGCTCTGTCCCTGTAAGCCAGCATTCCCTGGTTTGGCATGCACACGTGCACACGCTGGCTAGCCTGCTACTTAAGACGCCCATGAAGTTGTATGTTCTCGGGGCCTAGTGTTGTTTCTGTGCATATTGGCACATGGAGTATTCTTGCATAAGGCAGTACCTTTGTTCTCTGAATGGCAGCAGTTATGACCAACAGCAGGAAGTGCTGGCCTATGGGATGCACTGCTGGAGCCCACAGTTTGGACCCACATCCTCGTCTATGTTCCCTGTTGTGCATTGGAGAGTTCTGTGGCAGAGATGGCTGCAGGTGAGCGTGAGGACTGTCATCTCTAGCTGCATGCAGAAACTTCCCCTGCAGGGTATATACCTGATTTCTAATAGTCTTTCTCCTGAGGTCAGGAAATAAGGGACACGTCGGTAAACCAAGACAGTCTGACTTGCAGACCAGATGCCTAAAAGGCAATTATTCAGGCAGGGTAAGTTTCTAGAAGCAGTAAAATTTCTCGTTAAACTGCATAGTCAAATAAGGGATCCCAGAACATTTCTGACTAATAAGGTGTCAGACCTCATAAATAACATCATGAAAAGAAAGTTATTTCCTAATCATGACCGCTACCTTTGGTCATGAAGAAGGAAGCCCAGGCTTTCCTGATGCAGGGAACAGTGTGACCAAATTGCCCTCCATGGTCACTCGGTGATCCCGCTGGACAAGCAATGTGTTGTCCTACATGGCTACTTCCAGAAGGCTGGGCGATGCTATTTCTTGTATGGACTTTTCATTCTGCCTCTGTCTTTGCATCTGGGGGCCGGCCACATTTCACTTGAATCATTGGGCCCGTTTCTAGAAGAGTATCCTCTTCTCATTTGCTGCCACTTTTCTGCTTCTCAAATTAGTTCAGACAACTGAGCTTTGAAAAACGTCTAAAATAGGAGTAAGTGGTCCCCTGTTGAATGGATCAAACATGTGCCTTTCCATGCCTGGACTTTGGGTCTTCTGTTTCTTGGGGGGCTGTATTAGTTTGCCAAGGCTGCTGTAACAAAGTGCTACAGACTCAGAGCCTTAAACAATAGAAGTTACCCTGTCACAATTGTGGAGGCCAGAAGTCTGAATGAAGGTGTTGTCAGGACTGGCTTCTTCTGAGCCTCTCTCCTTGGCTGGTAGATGGCTGCCATCTCACTGGGTTCACGTGACCTTCGCTTGTCTCTGTCCGTGCCCTAGTCTCCTCTTCCTGTAAGCACTGCAGTCAAATTAGAGTAGGGCCCCATGCTCATGACCCTCTTTTACTTTAATTACCTTTTTAAAGGTTCTGTCTTCAAATAGAGCCACACTCTGAGGCACCAGGTATTAGGATTTCAACATGTGAGTTTGAGGGAGATGCAACTCAGTCCATAATGAGGGCATTGTATCTGACTTTTTGAGGGCAAAGGGTCAGGGTTGAAGAAGTCTCCGTGTTAATTTTAGCTGTAATATTTACAGTCTGTATAACCTTTGAGTCTCAGATTTCTCCTTTGAAAAACGGGGAAAGTGCCGGCTTCACAGAGTTCGGAGGATCGCTCTGTGGATGTGTGTAGCACACTTAGTCTGGCACTTGGAAAAGAGCACACATTCCGTAAAGGCAGTTGTGTGTTTACAGGCAGAATGATGAGGATTCCTGCTTTTAGAACAAGATGGTAATTTAACAATTTAGAAAAAAATAATCAATGTTTTTCATTTTCCAATTCGGATTTTTTAAGTTTGAAATCAAGAATAAATTTTATAACATTCAGCCTGAGCAATGTACGAGACCCCCATCTCTAACAACAATAACGACAACAACAACAAAATTAGCTGGGCATGGTGACCTGCACCTGTAGTGCCAGCTACTCAGGAGGCTGAGGTAGAAGGATCCCTTGAGCCCAGCAGTGAGCTTTGATTATATCACTGCTTGCCATCCTGGGTGACAGAGTGAGATGCTATCTCCAAATATATATATATATATATATATATGTATATATATATATATACATATATATATATATACACATACATACATACACACACACATATACACACACACATACATACATATACATACACACACACACACAGAGAGAGAGAGAGAGAGCACCCCACCATATTATATGTATAACATGTTGGTGGAATCTTATTAACACGGTTACAAGAGGCAGTTTATATGGCCTATGTGTAGGATCTTTAACTCCAAAATGTAAAATGTTTGATGATTCCAAATGCTCTGGCTAATGAGGAATTTCCAAGTTGTAATTGAATTTCAAGGAGCAAAGATAGAGCAGTCTCTACCTGACAAATGTTACCAGGGTCCAGGCCCTTAGAAATGATCCCCACCTCCACATGCCTGACCCAGCTGCCGGTGCAGAACCCCATCGCTCACACATCTGTTGAGCTCTACTGAAGGATCCTGCTCGTTCCTCTTTCCCATGGTGGACATAGACCACGTCCGCCAGGCTTCATCATGGAGGATGTAGAGGCTGCTTCAATTTCTGCTTTTGTTTTCCTGAGACATGGAATGTAGGACTTTCTTTTTGAAGTAACTACTAAATATATTTTGAAGTAACTGCTAAATATATGGCCCGCAGGTCCACATGAACCCAACGTGGAATGAATAGATTTCAGAGAATATTTAAACCACTCATAGACACTTATCTATTGCTACAGAACAAACTCCTCAGAACTGAGTGACTTAAAGCAAACAACTCAGATTATTCCTCATGATGCCGTGGGCTGTCCAGGCCCATGTGGCTGGTTGTCTCTTTCACGTGGCATTGGGCACAGCCATGGGCTGGGGCTCCACTGGGCCGATGTGCTGAGGGGTACACTTCCACAGCGGGGCAGGTCTGGGCTGAGCTGGTGGGGACGCCGGCCCTGGCAGGAAGCTCAGCCATTCAGCTGGGGACTGTGCACCCACCCCTTCTGGGCCTTTTCCACAAGGCTCGGTGTCCCCCAGCTTGGTGGCCAGCAGTGCTCTGACAGGAAGGAAGGAGAGGCTGCTGGGACTCTTAAGGACTGAGCGTGAGGGTCCCGCAACAGCCCTTCTCCACATTCTGTTGGTCAGAGTAGGCAGGAGCCCAGCTTGGAGTCAAGAAAGGGGAAATCAGCACCCCTATCTAGGGCAAGAGGGAGGCCACAGGGTGCTCTGGGGACACTAGTGATCACAGCTAAGGAAGGAAAGCGGTGGAACTGCAAGGGTCAAAGTAAAGCCCCAGGAAACCGAAAGACCAGAAGAGGCGTGCATTGTGAAGGGGAAGGCACGCTCCGCCATGTGCCTGCTGAAATTGGCAATGTGGGAGGAGAAGCAGGCAGGAGGAGAGAGCTTCTAAACAAGACAGATCTTGTCATCTCTGCCCCCCCTTGCTGGCTGGCTTCCCCTTCCTGCCTGGACACACTGTGCAGCCCCCAGGTATGTGCTGACCAGCCTATCCCTACCCTGTAGCCTCGTCCACTCTCCAGCCCTACTGCTTGTCCTTTGGCTCATTGATGCACCAATGCTTCCAGGCAGAGTGTTTATATGAGCGTCTTGCGGGGCGAGGAATGCCCACCCCTTAACTCCCAGTTAGCAAGGGAAACCTCCCTGACACCCTCACCCCTGCCAAGTCTAGAACACATTTCTCTGTCACGTAGAAAAGGATTCCTGTCCACGATGGCACTTAGGGTCTGCTACCTCTTAGGGGCACCTAGCAGGGCACTTGATACACATTTATGCAAAGACAAGATGGAGAGAGGAAGGGAGGGTGCAGGAATTATTAGGAGGAGGAGCGAAGAAGATGGATCAGTGTAATACAGTGCGGCTAAGAACAGCCAGAGAAGAAAGAAAGCAAAGGAAAGAAATCATGTAGGCAACCTAGAAAACATTCAACTGAGACTGAGTCCAAAAATTCACACAGGAAATAGCAAAAATAGTCTTCACTACTAATATCCTAACCCTCTGATATTCTGTTATTGGGGATTTTGAGAGATACCGAATTTAATGCTTTCTGCCAGCTTCTAGGCGTGGAAAATAATATGTTCTGCTTAGTAGACTCATCTGTTAGTTCATTATGGTCTGAATGGAGTCGAGGGGCTTTTCCTAAAGGAGGGGGTTAAATGCATCCTGTGTAAGCCCCAGTTTTGAAAGCAGTGTTGATGTAGCTCAGCTGAAGCCTCCCAAACATGTCTGTCCTATTTCTCACTCTATTCTCGTTTGATATTGGAGTCCCCACGTGAGTCACTATTGCTTTTTGAGATATAATGCATTTTCCATGCTTTAAAGTGGCTGGGTCACTGCAAAACAGCCATCTCTGCATCATTTGTGGAATGGGCTGCTGTATTTCCTTGATGGGTGGGTAACAAGTCATGCTGCTGCCAGCCAGCTGGCCAGGTCGCTCTGAGGAGAGGATGGGCACGAATAAAAGCGTCTCTGTCTGGTGCTGATCCCAGTCATTTCTTTGTTGCTTTATTTTGCTTTACTTTAAGCCTGCGGCTCAAGGAGTTTTCTGAACACCATCTTGCCTAAAGTGGGTAGCAATTATGGATGGCTTGCCGTGATTTTCCCCTTTGGATGGAATTAAAGGCCTTGCTGGGATCAGCAGTCCGCTTGCAGAAGGACAGTCTGAATCCCGCAACTCTGCGGATGCCCCTACACCGTGCAGAGACAGGCAACTGCCTCACCCTCTCTGGGCTTCTCTGTTTCTGAGTTGCTCGGTCAGAAAATTCTATTGCAATAATGGAAATCTTTTTTGATGAAGATATTTAAAGATGTTTTTGTTGGCTCTGAAAGTTTAGAACAGCATGGGGTTTCAGCCATCCATTTTCATTGAGTGTGCAAAGCTGCATTTGTCATCTGCAGGGTTGTGTCTTTCACTCATTTTCCTGACCCTGTGGCTGATAGCAGAGGCTGGAGAGGGGACCTCTATGCAGGACACACTTGAGAGCAGTGTGGCCAAGCCTGTAAGCACTCATAATTGTGCTCATCATTGTTGCCAAGCGTCTTAGGGAACCTGGGGGAGCCAACCCAGGACAAGGATTCCTGAGCATGTAGCTTATTTGGGAAGGGATCCTGGGAAGCAGGATGAGGGGAGGGGGAGTGAGATAGGGAGGGCAGGCAAGCCGTTGGAGTGAGCATTGAAAAGCAAATCATACTGCGGGCAAACAGAGCCCATTCCTACTGGGGAGCTCTGGGAGACTGTGTATAGCACATCTCAGCCTTGTTCTGAGGAAACTGGGATGCTTATCTGCCAGCTGCCTTCCATCATAGGCTGAGAGCTGCTTCCAGGGGTGTCAGCTCCCTGGCACCTCTGGCTTGCCTGCCCCATGTGTGGATCAAGTGCAGAGCTGCAGATGCTTGCAGTAGGCAGCTGTCAGGGCCTTGGGCACAGGAGGATGATTGTCGACATGGTCTGCTACAGCGCAGATGAGCCATCCACTCAAGTTCTAGTTGCTTTCACCCTGCTTTGATTGTAGATCCAATCTCAGCTTCTGGTAGGGAGCATAGCAACAATATGGGTGGAAGGGAGAGAGTCCTAGGACTTGAGGGTCCTAGGGGTGAGGGTGTTCTCAGCCAGAGCAGAGGAGGCAGGCAGGTGGCAAATTTCACTGGACTAAAGAAGAGCCCAAGCCTGCATCCCAGCAAGGGGTGCCTATTCTACGTGGGCTGCGATGTATCTATTATGGAGTCATGGCAGTGCACACATGGAATGGCATCTTAGGGAGTGAATCTGTGAGATGTAGTGTTGTCATGGTTAATAGCTCCTGAAATTGTGGTATCCCTCAGCCTAACCGAGATTGGCCTGCTGGTGCTCAAAGGCTCATAATGCAGTCATGGCCAGGCTCTTGGAGGGCCCAAGGGCATCACTGGAAGGTGATGTGGTTGCTATAGTTTGAATATTTGTCCTTTACAAATATTTGAATATCTGTCTTCTCCAGAATTTGTGTTAAAATTTAACCCCTAATATGACAGTATTGAGAGGTGGGACCTTTGAAGGCCAACTGGGTCATGAGGGCTCTGCCCTCATGAATGCTTTAATCTATTCATGGATTAATGGATCAATAGGATATCATGGGAATGGGACTGATAACTTGATAAGAAGAGGAAGAGAGGCCTGAGCCAGCACCTTCAGGCCCCTCCCCATGCGATGCCTGGTACCACCTTGGCACTACAGAGAGTCCCCACCAGCAAGAAGCCCTCACCAGATGCAGCTCCTTGACCTCGGACTCCCAGCATCCATACTGTAAGAAATGAATTCTTTTCTTTATAAATTACCCAGTTTCAGGCATCCTGTTATAAGCAACAGAAAACAAACTAAGACAGTAGTAGTTCCAGGTGAGCAGAGGTAATTTTGCTGCTGGAGATCTCAGAGAAGGAGTTTTGAGGATGTGCTGTTACAGCTTCTGTATTAATCAGATATTCACACCTGAGCTGGAGGGAGGCTGTTTCTAAATCATGTGTTGTGGGAAGAGGGGGAGCAGCAGCTTGTTTTAAAGCAGTGAGTGGAGCCAGCCAACCTATGTTTGCATCTTCAAAGTCATCCTCCGAACTGTCCATCTCACTCTCCCAGGTCTCATCATGGTCGCTCTTGCTGTTTGTTTTTAATTTGTTCATTCACTCAACCAATATTTAGTGAAGGCTCCCTCAGCATAATCACACACTGTTCTGGGAACTAAGGATTCAGCAGTGATCCAGCCAGACCCAAACCCACCAGAGAAACAGAGATGGGGAAGAGAGGAGGGAGGCATGGGCCAGATTGTAGGTGATCCCAGAAAAATGAAGCAGGAAAGGGAATAGTGAGGGCTGAGCCAGAGGTCAGGGAGAGACCAGGAGACAGACTAGAGGGCTGCAAAGGAACAGGCCCTGTGATATCAAGTGGAGAGAGTGTTCCTGACAGAAGGAACAGCCAGTGCAGGGGCCCTGTCAAGAAGGCTTGTGAAAGACTTCGAAATGCAAAAAAAAAAAAAAAATAGTGAGGGAAGAGAAAAAAAGACACCTCGGTTCCTACAGAATACTAGGCATGGTCACAGGCACCTTCCTGGTCATCTGAGTCTGTAGTGGACTGTGCCTGTCATGGTCTTCAAACTAGTTTTCAACTCTAACTTCTAGAAAACTGATGGCAAAACCAATGATTCTAGTCCACGGAGAAGCAAATGTGTTTTGCTGGTGGACCAATTCCCCTGTTGACAGATTCAGATCAGTGTGCCTGGTTGTCTTTGTATGTGTCTGCTTTTAGGATGCTCTGCAGAATTGGTTTTAACATTTTCCTGGTTCCTTCCTTCATTAATGACTTAAGTAGTCTTTGACACACGATCACTTTATATTTGTGCAAGTGTCATGATTTTATCTTTTAAAAAATCCATCAATTGCCCTGAGGCGGGAACATGCTATCCAGGTCTGTCCTAGGAGCAAATTCAGCTGCTGTGGCTGGAGAGAATTGGTGGATGGGGAAGCCAGGGTTCAGAGAGAGGGTCAGAGACATGATGGGAGGAGCTGGGGACCAAGTCGTGGAGGCCTTGGCTTTGACTGTGAGACAGGAGAGGCCCTGATACCTTTGACAGAATTTTTGTTTCAGTTCCTTTTTGCTTTGAACATTTTAAAAAAAAATATTTATTCATATTCTCCTCTTGACTTGTTAGCAATTGATTCCCATCAGGTGATTTTGTCCAGAAGTTATTATCTGTTCTTTTCTGCTTGTACACTCCTCCCAGCCTGTGGCAGTGGGCAGGTTTTGCTTTTGTTGTTTCTTCTGACATCTCAGCAAGAGGAAGGGAGGAAGGGCAAGTGCGTGTGTGTCCTTAATCAGCCTCTGATGGCCCAGCTGTTTGCCTCGGGCTAACTCGGAGCCCACCTGTCTGCACCAGAGTGAGTGGACTGTCGCTGGCTGACTGTTAATGCTGTCTGCCTCATCCGGTGCTTACTGAAGGTCCCATGCACTGCGTTCAGCCTACTTGCCCGCAGCTCCTGGTCTTCAGCACCCTGGAGCCAAGCCCCCTTTACTGGGCACTCGCCCAGTGCCAGCAGATGATAGCCAGGAAATTGTGGCTTTATGCCTTCTTTCTGGACTTTATGAAGTCTGTTTGAGTGTCCACAAATCTCAGGGCGGGAAGCTGGTGCTCAGAGAGGTTCAGCCACTTGCCCGAGGTCACTCAGCTGGGTCTGCCTGACTCCATAGTCTGACTCATTACTGGCCAGTCTCTCGACACATCAGGAAAGAGCTCGGTCTCTTGTGCTTTATTTTCTAAAGTTAAAAAGCAGAGAGATCCCCTTTCCCTCCCTCTGAGCTGGCTCCACTTTCGCACCTGCTCTGGGCTGCTCTGCCAGGCTCAGCCTTCCACTTCCTAAAAAGAGTGAGTTTGTTTTCTCTGAAGCTGCTGTGGGGTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTGAAGCTGCTGTGGGGTTTACTGTCGCCTCTTGACTGATTTCACTCAGCATCTGACATTTTCTTTTCTTTGACCAAATCCCCTGCCAGCCAGTGTGGGCCACAGGGCAGTGCCACAGCAGAGCGTGGAATGACAGAACCCAACTGCTGTCTGTGCAAGAGTTTGAGCAGAATTTCAAGCAGAGGACAGGTGCTGCGGTGAATAGAATTTTGTGGGGATGGTGTTGCATTGAGGTGGCCTGGGTGAGGCTGTCTTCTGGCATGTGGCAACGGGCCAGTCCACGGAGCAGCTCCCCAACCCCCTGCACCCCCAAGGGCCCTGAAGCTAATCGTGCCCAAGAGCACGGCTTTTGGAGATGAGCTTATTGATCTTTGTGATGTGGAACACAGAGCCAGCACGGTTGTAAGGGCTGTGTGATAAATACATGAGACAGGAACTCAATGGGCGGTTCAGTCTTCATCATGAGCTGCCTGAGGGAGCAGTGCGGGCAGCCAGGTGAGGGCCAGGGTCCGCCGCCACCCCGCCCCTTCCCGAGCCTGCTGTGGGGTCCCTGCGCGTGTCCACTGCCCACTAGAGATGCGCTCTTCAGCTGTCTGCACAGGAGGAGACTTAGGAAGTTGTGTGTGAGGCATCAGAAGGCAGCTGGGCCTCCCCAGCATGCTAAGACCTCAGCAGTGCAGGGTGTGGGGCCCGAGCTGGATGTGCCCCATTGCTTGTATCAAAACCTGGAGAAACAGAGCTTTCCTTGTGGGCCAGGGCCACATGGTCGGTGGAGCTGATGCTGTCAGTCGGCCGGGTGGTATTTTCTGGGGACCTACTCTGTGTAAGACACTGTGCTTCTAGGAAGACGCACATTCACTGCCCTCGAGGCATGTGTAATCAGTAGCAAATCAGTTTACCGTGGGTGGTCTCATCTGACGTATTTTTGTGTCCTTCAGTGAAGTCATCTAAAATTACTCTGCTTCACAATTGAGGAAATGGTTCCTGAAATTAAATGGCTTGTTGACGCAGTTCTGAGGCCTTGACTCCACATCCTCGTGCCTTTCCCAGTCCTTGACAGGCTCTTTGTGGCTGTAAGACAAGGGCACAAAGTGCATCTTGCAGAGCAGAAGATGACGTATGTCAGGGACATAACATCTTAGAAAGATCTGGAAGAGAGAGAGCCTCATCCAGTGGGAGGGTGTGGGCAACTGTTCACGGCAGGGTGGCCATACGTCTTGGTCTGTCTGGGACAGCCCGGGTTTGTGCCTGAGGTCCTGGCACTGCTGTTAATGGTGCCTTTTTTCACTTTTAAGATGGGGCATTTCATGGAAAGATATGTAAGTTAGGTCATATGGCACAGGGCCCTTAGCGGGGAGGGGGAGAGATCACCTTGGAAGGGACTAAATGTGGCAGGATCCTCAATGCATATGCTTGGAATGAAAGGGAGAGGGAAAAGAACAGAATAATCAGGTCAGGGACTAGCTATAATCTAAGGAATTGCCACCAGTCCAACTGGACTTCTCTGGAAATCTGTCCCTGACGCCTGGCCACAGTCGCCTACTCTGGGCTGCTGTGTACCTTGGAGGACTCTTTGTAAACATCACACGATGCTGCGGATGTGAGTTTGATACTCTTGTTTTTCCCCACTGTCCAGTGAGCTCCTTGGGAGCAACCAAGTTCTATTCACATTTTGTAATCCCCCCAAGTTAGTGTGACAAGTAGCACATGGCAAGCAGCACATCGCAGTGGGTGAGGGACTAGTGGGGCCACTACCCTGTTCCAGGAGGGAGTTGCTGGAGGCCAGAACCTGGGCAGAACCTTGGAACTCAGGCTGTCTGGATCAAGAGAGCCATCTTCTAGCACCCTTAGATTAAAAATAAGTAAGTTCTGATTGTGTGGGGCAGGGATGTAGGGTATGGGTCCTATCCCGAGAAGCAAATTAGTCTAGAAATGATTCTCCTTTCTCCTCCACTACCCATACCAATCTATCTTGAAGGATTATGCATTTGAAATTACTCTAGTCATCTTTTCACATTATTTGTGGTCTTTTTTTAATATAAATTTTACATCCTTAGCTAATCACATTTTTGTGTTGTTTCCTTTATGGATCCTTTATGGCTTTGGGGTCCCAGACCAGGAGACTATCCATTTATTCTACTAAATAGTTTGTTTTTTATTGTGTATGGTTTTTTTTCCCTAAAATGTTTGTGTATGCTATGAGGTAAGGGTCTAACTTTACTTTTCTTTAAGGGATAGAAAATAATTCTAACAGCACTTATTGAGCAATACATCTTTCTCCCCATGGCATTGAAGTGGGATGGTTATATTCATTTATGCATGTGCCAATACCATACTGAGAGCTAAGCAGGGTGAATAAAAAGAGACATATGTCTTGAATATCTTGCTGCGATTTTAAAACACTCATGATAAAGGCAAAACCCTTATAAGCTCTCAAAGCAAAAAAAAAAAAAAAATCACAATAGCAAGAAACAGTAGCCTAGTAGAGGACTACTTTCAAATATTGAAGGGCAATTATTTTTAAAATAAAATATTTTGTTGAACTGAACTTTCTGGGCAAAAATGAAAGCAGTTTTAAATATGTAAAGACTCAAGTCTGAAAGAATTACTCAGAATTGTATTCCAGCAAAATGAGAAGAAACCAAGAAAGAGGCAAACCTGGAATATAATCAGCACTCGTGAGTGATGGAATCACTAAAAGGCATAGTTCAGTCTAATTATTTGATGATGTTGTTAAATGGTTTTTGTTGGCAGGGGACTAAGAAGTAGAAGAAGTAACAGCAGACGTTTGGTGTCGGCCTTCTTTGGTTCATGCATGATAAAGATAAACCTCGTTAAATGCACAAAATGAAAAAAAGTACAAGTAAATATGTATGTTAAATATTTGAATAGCTATCAGAGTAACAGAAATAGTGTCATAACTTCCAGACCACTAGAGATAAAATAAGGGACCAAAACCTGAAGTCGATACCTCTAATGCAAGAACAGAAAACTGAGAAACAGTGTAAGTATGAGGTCTCTCATGGATCCCTGGCATGGGTATGAACATTATTTTAAACTGAAGACATTTGAGATTAAACAGATAGGGAAAGAAGCTTTTTCAGAGCTTACTTATCAGACTACAGCAAAAACTTCTGGGAGCGAGCCTGGCATAAATCTCCTTTCTAGGGGAGTCTTTACTGGCTGGAAAGAAGATGGAAAAGACCAGTTGCACCTGCATAAACAAAACTTTCCCACAGACCTTCTTATCTCCCATTTGCTCCCCTAGAAACCGATTTGTTCTTTTCATAGAAGCCCTTCCTCTCCCCTCTCTCTCCGCTGTGCAGTATATAATCTCACCTTTAGCTGTTTGAAGAGTTGCATTTTTCTTTGTGCCCCTGTGCCCATGTAGGCATAAAAGTCAGTTTTCTCTTGCTCATCTGTCTTTTGTCAGTTTAATTCCTAAGCTCCCCCCCGCCAAAAGAATCTATAAGGGTAGAGGAAGAGCATTTCTTCTCTAACATGAGAAAATCTGGCCAAAAAAAAAAAAAAAAAACAGCCTACAAAAAACCAGAAAACAAACCTACTAGCAGAAACGAGTTAAAACAATCACTAATCACAAAAATTCAAATGGATTTAAATCCCATAACAGTTCTCAAACCAAAACAGACTCCTAGATGGGTTTCAAAAAATCAAAATCCAACTATATTGTATATACAGAAGGTAGATTTTAATCAAATAATCCAAAAGGTTGAAATGAAAAGGATCGAAAAACCATGTCTGCCAAATGCCATAAGAAGAAACAGATTTAGCATTGTTCTTATTTCACAAATATAGATGAAAGACAAAATACGTAAAAAGGGACAAAATGAATATTTTATATTGATTAAAGGAAAATTTATTGAGAAAACAAAGTGCTCATGAATAATTATGTTGCAGTGTGACTGCAAAAAATACAGTCAATGCTGATGAAAGTCAAAGGAGAAATTAACAAAAACCAGGATCTCAAGAAAGGGTAAGTATGCTTACATGGAATGAAATAAAACAGTGGTTAAAACTAACCCAGAAGATATATAGAAAGATTTGTATCTAACAAATATTTCCCAAAAGTAGTAATATTCACAAAAAATAAACTAAGACTGGAAGAAAATTCATAAGCAGATAAATATTACTCAGAAGAAAACTGGCAAACAAAGCTGACTGTTGAAAAGTCAGGTGAATCCACCTCAAAGTCAGAGATAAGGCAAAGATGAGAAATGTTAGGGACTGAATGATTGTGTCCCCTCGAGAATTAGTATGTTGAAATCCTAACCCCCAAGGTGATGGAATTAGAAGGTGGGGCCTCTAGGAGGGGATTGGGTCATAAAGGTGGAGTTTCATGAATGGGATTAGTGTCCTTATAAGAAGAGACACAAGGGCTTTCTTCCTGTCTCTGCTTATTTGGCCATCTGAGGACACAAGGAGGAGATGTGTATCTGCAAACCAGGACAGTTGCCCTCCCCAGACATCAGATCCGTGGGTGCTTTGATCTTGGACTTACAGGCTCCAGAACTGTGGAAGATAAATGCCAGAACTGACTAAGACAACAGCTATCACTGCTTTCAACTGCCGGGTGGATGCCCTAGCCGGAGCCCTATGACAGCAAGTTAAAGAAAGATATCTAAATATTACGAGAAAGAAAAAACACTATCATTACTTCCAGTTGGTTAGTCACCTAAAGGCAGACGCAGCTGACAAACTTTGAACTAATAAAAGATTTAAGAAAGAAGACAATAGCTGAGCTAGGTGTGAGTGAAGAACAGTGAAGTGAAATGGAAAGAACAGACCTCATTTACACTCATGATGATAACCATAAAATACCAAAGAATCAACCTGGTGCCCATGCACCAAACCCTTCTGAGGAAAACGATAAAAATTCACCAAAGCACCTGAAAGAGTAAAAGAGTCAGGAAGCAGCATGTGGGGTCTGCCAGCTCTCCTTCCCCTGCAGCTGGGCCATGTGTTGGAAGCCTGGAGTAGCAGCAGGGTTACTGCCTGGGGTCCCAGAGTCAAGGACTTAGAACTGCTGTGCCCGGGCTGCCTAGTAGACTCTAGAGACGCTCCGCTGCAGTCTTCTGGGGTCAAGAGGGGACAATCGGAAAGAGCTTTAAAAACTCTCAGGCTGCTCAGGGAGTTCTTAGATAGTGCTTTGGGCTCCATGTGCAGGATCTAGATCCTGCTTGCCTGGTTTGCTCTTCTGATTCGATGTTCCAATATCTGCTCTGGCTAAGAAGCTGCCGAGTGATTGTTAACAATGGAAACTGCATCTTTACCTCCTCAGGGTCTGATACAGCAGGTGTGGAGTACAGCTCAGGAATCGGTCATACATGGTCCCCCTGGATCACTTGTGAAAGACTCTGTCCTGCTGGGCATGAATGCCAGCTTGCATTCCTTTAATTAGATGGAAACTAGGAGGTATTTGGTGGCTGGAAGTCATGAATTTCAGCCCATACACTTCCTTCAATTACATGCTTGTCTCCCTCCTGCTGTCCAGAGAAAACCAACTGAATGATGAATAGTGCTCTCACCATTGGTAGCTGATAGCAAAAAAAAAAAATGATCCAGAACTTCATTTTGACAAATGAATGCTTCTCCCTGATACCTAGTTTGTGCTTCTCATTTTCCCAGGGATGCATTAATGCTAGAGAACTTTAGTGAATCACTACAGAATTACTTATGCATTTTGTAGTTAATAGGCAAAATATGTTGTGCCTGTAACATAGCTCCTTTGATGTTCTTAGTAAGCAGAACGTAGTATGGATTCTACTTTATTGACTTCCAGATGGTGCCTCTAAAGGTTATGACTATGAGCTAGTTAAATGTTTTGTCCCTACCAGTGGGTTCATGGCTTCATAAAGACCTGTGGTAGGTAGCATCTGAGTTTGTAGTTTGCATTTATTTCTGACTTTTAAGTCTACATTGACACAATCTCTTTATCTTGGCTTTGTTGAACTCTGCCTCATTTATTATGAAAGCTGACTTCAGGTTGAGGGCAAGGCAAAGAAAGAAGCCTTCGTATTTCAAAAGAACAAGATGGGTAGCCACGACACAGTCAAATTGGTTAATTTCTGTTCCTCGCTCCCTAAACTGCTAAATTTCATTTTATATATCTTCCTTCAGTCCATCTACTTAATATATTTTATGTGGTTAGACGGACTGCATTTTTCACTCATCCTGTTTTCCATGGGTTTTTCTCATCATCATTTTAATAGTGACATAATTCATAGAGATGATACTTTCTAGTTCACCATTGTTGGATTTAGTATGTTTCTAACAGATTAATAATTATAGGTCATAAGAAATGGAAAAAAAATTATAGGGAGGTACATTTTCATATTCCTCCTAATATTCCCCAGCAGTAACACCTTAAATAACTCTAGTGTAATATCAAAGCCAAGAAATTAACATTGGTATATTCCACAAAGTTTATTCAGATTTCACCAGTTTTACATTCATGCATTTTTGTGTAGTATATATAATTCTAAGCAAATTCATCACATGTATTGATTCATGTAGCCACCAACAAATTAAGATAAAGAACTGTTCCACGACTGTAAAGATCTCTTGCACTATACCCTTATAGCCACATCCCGCTTGTCCCTAACTACTGGCAAACACTAATCCATCTCTGTCATTGTGGCATTTCAAGAATATTTTATGTGTAGACTAATATAGTTTGTAACCTTTTGAGGGTGGCTGAGTAGTGGTCTGTGGTATGGATGTGCCACAATTTGTGTAACTATTAATCCATTAACAGATATTTGAGATGTTTTCAGTTTTTCGCTATTGCAATCATAGCTTCTATAACATCCATGTCCATGTTTGTTTGTTTTTGAAGATGTTTCCATTCGTCTGGTATAAATTACATAAGCACGCAATTGTTAGGTTGTATAATAAGCAGATGCTTCATTTTATAAGAAACTGCCATACTCTTTTCCAGAGTGGCCGTTCCCACCTAAGTGATCAAGTAATTCCGCATCCTCCCCAGAATTTGGTGTTATCACTATTTTTTTTATTTTAGCCACGCTAGTAGGTGTGTAGTGATAACCCATTGTGTTTTTAATTTACATTCTCCTGGTGGCTAATGCTGTTGAACATCTTACTATGTGGTGGTTCGTCACCTGTATATCCTCTTCATTGAAATATATGTTCATGTCTGTTTGCCCGTTTTCTAGTTAGATTGTGTGGGGTTTTGTTTGTTTTATTTTTACTCTTGAGATTTAAGAGTTCTTTATGCTAGATATGCCTTTTGTCAGATATGTGTTTTGAAAATATAGTTTGTCTTTCTGTAGTTTATCTCTTCATCTTCTTTACAGGGTCTTTCACAGAGTAAACATGTTCTTTTTAAAAATTACAGTGAAGTTTTTTATCAAATTTTACTTTGATGGATTGTGTTTTTGATGTCAAGTCTTGGAACTCATAGCCTAGAGTGCTGAAGATTTCCTCCTATGTTTTGTTCTAAAAGTTTCACATTTTTAAGTCTTACATTTAAGTCTGTTCTTTAAGTTGATGTCAATTTTTGGTATGATATCTGAGATTTACATCAAAGTTTATCCTTTTGCCTGTGGATTTTCAGTTATTCCAGGTCCACTCATTGAGAAGACTATATTCCTCTTCTGAATTGCTTTGAAAAAATCAGTTGGGTATATTTGTGTGGGTCTACTATTGGGTTCTCAATTCTGTTTTATTAATCTAGATATCTCTTCCTCTATTATAGTCTTTTGCTTTCATCGTATAGTAACGCTTAACATTGAGTAGAGTGTTTCTTCCCATTTTATTGTTCCTTTTCAAAATTGTTTTAGCTATTTTAGTTTCTTTGTTTATATAAATTTCAGACTGACTTTGTGTATCCATATGTACAAAACTCTTGCTGGGTTTTTAATGGGAATTGTGTTAAGCCTACAGGTTCTCGTAGGGACAATTATGTTGAATCTTCCAATCCATGATCATGGTATGTCCCTCTTATTTCAATCTTCTATGATTTTTCCATCAGTATTTTGTAGTTTTCAACATGTGAGATTTATGCTTGTTTTGTTAAATTTATATTTGTTTCATTTTTGACCAGTTGTAAATGATACTGCATTTTCAGTAACCACATGTTTACTGTTAGTATAGCAATTATTTTATGTTGATCTTGTATTTCTGACCTTGCTGAACTTACTCATTAGGTTTAGCAGTTTTTTTTTTAATTGTTTTTGTTTTGAGATTCCTTTGGATTTTCCACATAGACCATCATGTCACCTGAAAATAGTAACTTTTTAAATTTCTTTCTGATTTCTAGGCCTCTTACTTCCTTTACTTTCCTGGCTAGGATTTCTAGTATTATGCTGAATTAGAATGTTAAAAGTGAACAACTTTATCTTGTTTCTGATCTTATGGCGAAAGCATCCAGTCTTTCACTATTAAGTATGATGCTAGCTGTAGGTTTTTTGTGGAATTGCTTTTATCAGGATGAGGAAGTTTCCCTCTATTCCAGTTTTCTGAGACTTTTTAATATGGATGAGTGTTGAGTGTTATTACTTGCTTTTTCTGCATCAATTGATATAATCAGGTGATTTTTCTTCCTTGGCATCTTAATATGGTAGATTACATTGATCAGTTTTCAATTATTGAACTAGCTTTACACTCATGGAACAAACTCTACTTGGTCATGTGTGTAATTCCTTATATATACTGCTAAGTTGTATTGCCAATATTTTATTAAGGGTGGTTTATGTATATTTATGAGAGAATGTGGTCTGTAGTTTTTGTTTTGCATTTTATAAATTTTTTCTACTGTCTTTGTCTAGTTTTGGTTATGAGGTTAATAAAAGCCTCTGTGTTTTATCCTTTTTTATTTACTGGGAGACAGTTATAGAATTGATATTAATTCTTCCTTAAATGTTTGTTAAAATTCCCCAGCGAAGCCATTCAGGATGTGGAGATACCTTTTTAAAAAACATTTAAAATTATGAACTCAATGTGTTTAATTGTTTTAGGGATCTTCAGCTTATTTATAGCCTATTGGTTGAGTTGTGGTAGTTTGTACTTTTCAAGGAATTGGTGCATTTCATTTAAGTTGCTAAATGTATGTGTTAATTTCTATGTAAAGAGTTGTTCATAGCTTTCCTCATCATTCTTTTGATGTCTACAATGTCTGTGTAGTGACACATAGAATACATTCGTGGTATTAGTTTGTCAATTTTATTGATATTTTCAAAGAAGATTTTCATTTCATTGATTTTTTTTTCTTTTTTTTCTCTTCTCCGTGTCAGTGATTTTATACTTTTATATTTATTATTTACTTCCTTCTACTTGTGGGGCTTGTCTTCTCTTTTCTAGTTTCTTACCGAGTGAGCATAGATATAGACTTGAATCTTTTTCTCTTTCTTAAAATAAGCAGTACTATAAATTTATTCTTAGCACTACCAGCATGTCATACATATTGATACATTGCATTTTTATTCAGTTCAGTGTATTTTTTTCCATTTCCTTGAGACTTTCTCTTTGACTCATGGATTATTTAGCAATTTGGCATTCAGTTTCCAAGTGTTTGGAGATTTTCTTGTCATCTTAATGCTATTCATGTCTAGTTTGATTCCATTGTGGGCAAATATCACACTTTGTGTGGTTTCACTTCTTTTAAATGTATTGAGGTTTTTCTTAGGCTCAGGATATGGTCTATCTTGGTATATGCTCCATGAGTACTTGTTGGTAGACAGTTTCCTAAATGCCAATTAAGTCCTGTTGTTTGATGGTGTAAGTTCTTTTATATCCTTGCTGATTTTCTGTCTAGTTGCCCTGTCATGAATTATTGAGAGAGGAGTGTTGAAACCTCCAAATATAGTTGTGAACTTGTCTATATCTTTTGAAAATTTCCATCAGTTCTGGGGTCATGTATTTTGAAGCTTTCTTGTTTGAGAAAGGATTTATGATTGCTGCATCTTCTTGGTAGACTGAGCTTTTATCATTATGTAAATTTATATCTATCTTTCATAATTTTCTTTTCTCTAAGATCTGCTTTATCTGATAATAATATAGTTACTCTTGTGTTTTTTGAGTAATGTTTGCAGGGTATGTGTGTCTGTGATATATATATATTATATATATATATTCTTCGTTTTTTCTTTCCTGCCTATGATGTACTTAACTTTTTTTTAGAATTTCTTTTTTAGAATTTTTAGAATCTTTTTTATTTATAGTGTTTTTGAGTATGTCTCTTTGTACACCTATTTCATGGTTGCTCTTGATATTACATTTTATGTATGTAACTTATTACGTTACTGACTACTGATATAAACATCTTACTGGTTCAAGTAAAGTAGATAAATTTTCTCTTCCTTCTTTTATTGTTTTTTTCTCTCTTTCAAGAACTTCCTTGAGCCATACTTCTTGGGTGATTCTGCTGGTCACTATTTCTCTTAGTTTTTTCTTCATCTGAAAATGTCTTGACATTTCTTCATTATTCCTGAAAGATATTTTAACTGGATTTAGAATTTTGAGTGTACAGTAAGTTATTTCAGCATTCGGAAACTGTCATACCACCTCCTGCTGGTCTCCGTGGTTACTGTTGAAAATTCTGCTGTCATTTAAATTTGTTGTTGTTGTTTAGTTTTGTTTTTCCCCCTTACGGATCATTTTTCTCTGGCTGCTTTCAAGATTTTCTCTTTGTGTTTAATTTTTAGATGTTTGATTATGATGATTCTTGGCATTAATTTTTTTGTATTTATCTGGTTTGGGTTTTACTCAGCTTCTTGAATCTGTAGATGTATATCTTTTGCTAAATTTGGAAAATTTTTAATAATTTCTTCAAACATTTTTCATTCTCATTTTCTTTCTCTTCTTTTTCTGAGACTCTCATGACACAAATATCAGATTTTGTTATGGCTTCACACCCCTGCAGGCTGTGTCGATTTTTTTTCTTTTTTTTGGTCTATTTTACCTTTGTTGCTCCGATTGCATAATTTCTATTCTGTCTTCAAGTCAGATTCTTTCCTTTGCTATCTCCACTCTACTATTGAGCCCAGCCTACATGTTGGTAATCCCAGTTACTGTATTTTTCAGTTCTAAATTTTCATTTAGTTTTTCTTTATATCTTCTATTTATTTGTTGAGACTTTCTATTTTTTCACTGGTTTCAAACATGTTCTTAATTGCCTACCAAAGCATTATTATGATTGAGGTTTTAAAATCCAGAGAATTCCAACTTTCTGAATTATCTGTTTTGGCATCTGCTAATTTTCTCTTCTCATTAAAGTTGAGGTTTTTTTCTTGATTTTGGTATTACAGGTGATTTTTAAAATTATATCCTGGACATTTTGGGTATTATTGTTTGAGACTCCAAGTCTTATTTCAGTGTTCCTTTTCACTAGACCTCCTCTGACACTGTGCTAGCAGAGGAGGGAGGACACCACCCCTGCTGTCGTGTGGTTCAGGCCCCCCACTCAGCCTCTGTTGACACCTGGGAGGGATGGGGACCTTGGTACTGCTAGGTGGGAGTGGAAGTCCAGGCTCCCCAAGTGTTCTCCACTGAAACAGCAGGAGGCGGCTGGGTCAAGATGAGGTCACTGCTTGGCCTTCTCTGACATCACCTCTTGCAAGTATGGGGAGGAGTGTCTCCCTTTTGCCTGGGGATGTTTGAATCTAGAGTGCTCCCTGGGCCTTTGCTGATGAGGCTGCTGGTGGAGTCCAGCTTTTTCCTTTGGTGTTTCCCTGGGGCAGCGCTCTTGGCTAGACACGGTCCAGCTGTCAGGCTGCTTCTCTCCTGACCATTTGGCGAGAGAGGGCAAGCTTTCCTCAGGACTTCTTTGGTCTGTACCTGTTGGGGTTTTTTTGGTGCATTCTTCTCCAGAACCCAGTTTGGAATAGGTAAGATAAATAGTAAACCTAGGGATGTCAGCACCATGCCGTTCTGCCTGTCACAAAGGTGTGATCCCTTCTGCCTTCTTCTCTGAACTGTTGACAGCCTTCTTATGTTTATTTATGGATTATGTGAAGACTTCTTAGTCATATTTAGCAAGAGTAATAATGATTACTCAGGTCAGCCTGTCATAACAAAATACCATAGACTGGGAGGCTTTAAATAATAGAAATTTATTTTCACACAATTCTGGGAGCTGAGAAGTTCAAGATCAAGGGTCTGGATTTGGTTCCCTGAAGAGAACTCTCTCTGGTTTATGGCTTCCTTCTCATTGTGTCCTTACATGGCAGAGAGAAAGAGAGAGGGAGTGGGAGAGGGAGAGAGAGGGGCACGTGCTGGCTTCCCTCTTCCTATAAGGCCACCAGTCCTATCAGAATAGGGCTCTACCCCTGTGACCTGATTTAACCCTGGTCAGCTCTTGCTTATCGTTTTTAGCCGTATTACCTCCTTATCGTTTTTCTTGTATTTATGCTGTCATAGCAAGTGGCATTTTTCTGAAAGCATATGCTTAGTTTATTTAGACTTTATATTTATTCAGATTAAGGTTGGTCAATTTCTTCACTCAATCTGAAGGAAAAGCTCTTTAAAAAATCAGCCTGATCATTTTTCAATGAACCTCTGGTGTGGACTTTGGGCATCCGATTGTGTAGGAGGCTCTCAAGGCTGGCTGTTTGCCCAGTCAGCATTGTCACTGGGGGACGAGCTGGCAGGGTGCAATGTTGTTCCCTTCACCTTTGTGTCTCCAAGTGACCCTTTCCTCATAGGGATGAATTTCCACCCATGATGAATAGTCCTTGTGTGCATAGTAATCCCAGTGTCAGAACATCTTCTCCTTCCACTGCTGGGGATAATTAGCTTCCTTTTTCTTTTGTTTCATACATCTGGAGCCAGAAAAGGCATAACAGGTCACATAGTTTAGAAATGGACATACTTTTTAAAAAATTTCATGAGCTCCTTCACGTCCATTTATCTAGGCTACGTAAAACTGTTAGAAGGAATGCCCAGGCTACAAGCTATAAGCAGGCAGGAGGGTGGGGCCCGTGGAGCCCAGCTCTCTCCCACACGAGGCCCTGGGAGTTCAGTCAACCATCCTGGGTCGCAAAAGTCATTACCCAAGAAGGCGGGAGTAAAACTCGTGCTTCTGCCCTCTTGCCCTGTACGAGGTGGGTTGGAACTGAGAAGGCCAGGACCTTCAAAATGCTGCATTCTCCCTGAGAAGTTGGAATTGAAAAAAATAAAATCTACCATCCAGTGCAAGACGATGAAAAAGAAGCATGACTGTTTTAGGCTGTGCTCAGTCAGGGCTCAGAGTCTTCCATGGGAATTCACAACAGATGAGGGAAGGGGTGCCTCCTGGTGCTGGTTTGATATGTCCAGCAGAACCCAGGAAATTCCAGCACCAATTGTAGTGGCATGCAAAGTGGTCTGATCTGTGAGGCTCTGGGCACCTGGCAGAATGGAGTGCAGGGCACCTGGAGAGAAGTCCCCCTCCGGCCAGGTCCACAGGATCTCCATAGACACGGTAGCAACACAGGTTGGGGATTCATTCCAGTATGTCCAGTCAGCAAGGTTCATGTGCCATGAACATGCTCTGCAGATGGTGATTGGGGTTTGAGACATGGGTTTTCTGCAGCCTGACAAATATTCCATGCTCTGATAAGTGTCCAGGTGTGAGGCCAGGTGTGCAGGCAATGCTGTGAGAGGGCAGCCAAGGGCTCTGCCCCTTTCTCTCCTGCGTCCTCCTCCCTCCACATCCATCCTGTCCCACCCCTGTGACTACATGTGGGTTTTTTTGTGTGTTTTTTTTTTTTCTGAGACTGAGTCTGGCTCTGTCTCCCAGGCTAGAGTACAGTGGCGGGATCTCGGCTCACTGCAACCTTCACTTCCCAAGTTCAAACAATTCTTGTGCCTTAACCTCCTGAGTAGCTGGGATTACAGGTGCCCACCACCATTCCCGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCGCCCTCCTCGGCCTCCCAAACTCCTGGGATTCAGGCGTGAGCCACCACACCTGGCCTGCATCTATATTTTTAAGCTCTTGTGCCATTTAGCCTTCATTAATTTTTTTAAGAAAACATTACAGATGAAAACTGTATGAGGAATGAAACACTATAAGAAATAATATGGAAACTCAATTTTTAAAAATCAGCTAAAAATGAACTTCAAATTAAAACACATACAGAAACATCTCACTTTGAGCAAGCATTCACAAACATAGCAAAAGGCAGGTTTGGACTCTTAAACACTTAAGACAATAGAAACTGACAAATGATTTGAAAATAATTACACTCAAGTAAGAATTAAAAACACAAATGAGAGAAACCCTTTAAAAAGCAACTTTGAAAAGAATCAAGTAAAATTAAGAGAGATGAGAAATAATATAGCCATCAAAATTAAAGACAGTGGAGGCATAGAATGTCAGATGAGACACAGTTGAAGGAGCAGAGGCAGTTTCCTGCGTGAATCATAGAAAGCTAAATAGATGGAAAGTAGGAAAGAATGATTTACGGTCGTGCAATAATATCCAACACTTCTGTAGTGCTTCTGTGCACCAGGTCCTGTTTCAAATGCTTTACATATATTAACAACCTTCTGAGGAAAGCGCTGTGATTATTTTCAGATATGACAGCTGGAGCACACTGTGGCCAAGGTCATGCAGAAAGCAGGTCTGGAAGCCTGCACCCCCCAGGAGAGGCTGTGCCTGACAAGGAGGGCTGCTTCCTCTCATGCCGGGGATAGGTGCTCCCATACACACTGGCTAGAATAGTAGAAGGCAATAATAAATTGCATGTGGGAGAAATATTAAAAGATTATTTTCAGAAAACAGGTAAAGTTATGGCTCACATACAGATATAAAAATGAGCATGTTGAAGAATCTATTTGACTCATATCACATGAGGAAACAAAGCAGATGTTCTCAGTTCAATGGGAAAGTCAAACTAGTACAAATTTATATAGAGTAAAGGAATTTCGAGATGAATTCTAAATGGACACAGAACTTGTTTATCTAAAGGGGCAGGAAGTCAAGGCACTACCAATTAAATCACTACTGGGCGACTGAGAACTTCCGCATCTATCAGCTGCTTACGGTCCGCGCACAGTGGCAAAGCAGCTCAGACAGTGAACAGGGCGAGACTTGCTAAGTGAGATCTATGTGCTGTAGGGGACACATCGTTTTCCATTGAAATACAATGATTTTTTTCAACAGAAGCCATGTCCCAAAAGAACAGCTGAGGATGTAATAATATTGATGAAAAACATACATCCTCAGCTTCAGGAGATAAAAGTCTGAGGAAAGATATGTGATAGGAAATGAGCCCAAGACATATTGTGCAAAAAAGCTGCAGGAATGTCCAAAGCCAAAAAAAGATCCTAGAAGCGATGAGAGAAAAATAGATAGCTTGCTAACAAAGAGATGGCAATTAGACTGACTGCAGACCTTTTAAAGGCAACAGTAGAAGCCAGAAAAATAAACGAAAATAACGTCTTTTAAGTATGAAAGGAAATAATTGTCAACCTAGAGTTTTATCCTGAGCTAAACCATTCTTTACCTGATGGGCAAAATCAAGACATTCTCGGGAAAACATATACTAAAGGAGTTTACCGTGCAGGGGCTGTGCTACTATTTTAAAAAACTACCAGAAGACGTTTAGGAACTAGGCATGAGAAGCAGTGAGCGAAGCAATTGGCAAAGATTCAGGTACATGTAAACAGATTTGGTTATATAAAATAATAATGATGAATTTGAGAGTATTAAAAACAAAGTGGGACAGGGCGCAGGGGCTCATGCCTGTAGTCCCAGCACTTTGGGAGGCCAAGGCAAGTAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTACTTGGGAGGGTGAGGCAGGAGGATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATAGCACCACTGCACTCCAACCTGGAACCTGAGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAGATGGAATTAAAATACTGGAAAATATAGCATGAAATAGTAACTTGGACAGTGCTTGGAGGTAAAACCCTCAGGTGTACTTATATGACTCTGGAAGGCCATGGAGACGTCAGCTTTAAGTGAAATATACAAGGTTAAAGTGTGAGAATAACCACCAGACCAGACACATTAAGAATACTATATTTAACTTCCAAACAAGTAGGGGTCGAATGGGGAAGGGATGAAGAAAACAGGAGAAGGCCGGCGCGGTGGCTGACGCCTGTAATCCCGGCACTGTGGGAGGCCGGGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAAAACAGGAGAAACCTAAATGCAATCCAAGGAGGAAGAAGTCAAAAGCATAACATTAGATGGTAGAAATGAAAACAAATATTACAGTAGACAAGATAAAAGTAAATGGGATGGCCAGCTGGTTAAAACACAGATCTCCCCAATATATCTCTATGCATTTAAATCGAACGATAGACTGTTTAGATGAAACTAAACCATATATACGTAAAGGATGAACGCAAAAAAGGAAAAACAAAAACAGGAACAAAAATAAAATGTGAGTGGCTATGTTTACAACACCCCCCCCCCACACAAACACAGTAAGAAAAACAAGTATAATTAAGGTTAAATAAGGTCAGGTGATAGTGATTTTTTAAAACTAAGGATATATAACAAATCTTACATGTATATATCTAATAAAATTGCTTTGAAGAAAAATTGGTAGAATTTAAAGTTTACTGGATAAGTCCACAATTACAGTAGAAGATTTTAATGTACCTCTTTTAGTAATTGATAGTGTAACAAGGGGAAAAAAAATGTAAGTATGTAGGAGTTTTGAACAACACAGTTAACAAGTCTTACCCAATATATAGATATAGATACAGATATAGAAAAAATGCATCCTCATTCCACTAGAAAATAAATATATGGAAAACTGGATATCTAAATGTGAATAAAAACATTTAGCATGTGTGGTGTGAGTTTGTGTGTGTACGTGTGTGTGCACACATGCACTCACATATGTATAGGAATGCAGGCAGACATACATAGCCTTTAAATGCTTATGTTAGAAAAGATACTTGTCTAAGCATCTTTACCATATGATCCAACAATTGTCCTCCTCAGTATTTACCCAAAGGAGCTGAAAACCTGTGTTCACACAGAAACCTACACACATATGTTGATAGCAGCATAGACATCTTTTTTAGGAAACCCTAAAGGCTTTTAATATCTTTTTTGGGAAAATGTGTGAGATAATTACCAAACTCAAGAAGTTATAAAATATAACATTAACTCCAATGAAAAAAAGAAGGAGGAATAAAGATAAACCTAGAAATGTATTAAATAAGAAAACTAAAATAGAGATCAACGAAGGACAAATTGGTTTTAAAAAAGAACTAATAAAATCAACATACCTCAGGAAATAATTACCAAGAAAACAAAGAAGGCACAAACAAACATTTACTGGATATAAAAGGGGTTTTCAACTACAGAAAAATACTTAAAAATAGAATATTGTGACACAATTTTATGCCAAAATTTTGGAAACTTAGATAGATTTAATATTTTCTAGAAAAATAGACCAAAAAGGGAATAGACTAGCAAAAAAACAGACTTTGTTTTTTAAAGCAGTTTGAGGTTCATAGCATAACTGTGTGGAAGGTACAAGTTCCCATGTCCCCTCCCAACCCCCACCCAAGCACAGCCTCCCCCATCATCAACATCCCCCACCAGGGCCGTACAATTGAAATAGATGAACTGATGCAGACACATCATTACCACCCAGAGTCCATAGTTTACATCAGGGTTCTCTCTTGGTGGCGTATGGGTTCTGTGGGTTTGCACAGATGTATAATGACCTGTATCGACCATTATAGTATCATTCAGAATAGCTTCACTGCCCTAAAAATCCTCGGTGCTCCACCTATTCATCCCGCCCTCTCTCTGCAATCCATGGCAGCCATTGACCTGTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTGAGATGGTGTATCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACGTCCCGGGTTCAAGCGATTCTCCCACCTCAGCCTCCTGAGTGGCTGGGACTACAGGTGCACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGTCATGTTGGCCAAGCTGGTCTCAAACTCCTGACCTCGGGTGATCCACCTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTGATCTGTTTTGCTGTCTCCATTGCTTTACTTTTCCTAGAATATCATATAATTGGAATCTTACAGTCTGTAATCTTTTCAGATTGACTTATTTCATTTGGTAATATGCATTTAAGGTTCCTCCATGTTTTTTTCATGGCTTGATAGCCCATTTCTTTTTAGCACTGAATAATAATCCATTGTTTGGATATAGCACAGTTAGTTTATCCATTTCACCTACTGAAGGTTGCTTCCAAGTTTTAGCAATTATGAATAAAGCTGCTATCAACATATGTATGTAGGTTTCTGTGTGAACACACGTTTTCTGCTCCTTTGGATAAATACAAGGGAAGGCAATTGTTGGATCACATGGAAAGAGTATGCTTCGTTTTGTAGGAAACTGCCAAACTGCCTTCCAAAGTGACTGCACCATTTCTCATGCCCACCAGCAGTGTATGAGAGTTCCTGTTGCTCTGCATCCTTGCCAGCATTTGGTGTTGTCAGTGTTCTGGATTTTGGTCATTCTAATAGATGCGTAGTGGTGTCTCAGTTTTTTTTTTTTTAATTTGTATTAAATATGACAATGTGGAACATATTTCTATGTGCTTCTTTGCCATCTCTATATTGTCTTTGCTCAGGTGTCTGTTAAGGTCTTTGGCCCATTATTTTAATTGGATTGTTTGTTTTCTTATTGCTGAGTTTTAAGAGTTCTTTGTATATTTTGGATTACAGTTCATTATTAGATGTGTCTTTTGCAAATATTTTCTCCCAATCTGGAGGTCATCTTTTCATTCTTTTGATCAGTATATTTTTAAAAAAGAAATTCAAAAAGGTAGGTTTACAGGCAAGTTCCACCCAGCATAAAATATCATTATGAACATAAATGTATAAGCCTTTTTTATTATTATACTTTAAGTTATAGGGTACCTGTGCACAATGTGCAGGTTTGTTACATTAGGTGTACATGTGCCATGTTGGCTTGCTGCATCCATTAACTGGTCATTTACATTAGATATTTCTCCTAATGCTATCCCACCCCCAGCCCCCCACCCCCCGAGAGGCCCCGGTGTGTGATGTTCCCTGCCCTGTGTCCATGTGTTCTCATTGTTCAGTTCCCGTCTATGAATGAGAACATGTGGTGTTTGGTTTTCTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTGCCTGCAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTACTCATGGTGTATGTGTGCCACATTTTCTTAATCCAATCTGTCATTGATGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAATATACGTGTGCATATGTCTTTATAGTAGCATGATGTATAATCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGAAATCTTCCACTGTCTTCCACAATGGTTGAACTAGTTTACACTCCCACCAGCAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCTAGCATCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGAGAGATGGTATCTCATTGTGGTTTGGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTGTTGTCTGCATAAATGTCTTCTTTTGAGAAGTGTCTCTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTAAGTTATTTGTAGATTCTGGATATTAGCCCTTTGTCAGATGGGTAGATTGCAAAAATTTTCTCCCATTCTCTAGGTTGCCTGTTCACTCTGATGATGGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAAATCCTATTTGTATATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTATGTCTTAGGTTTAAGTCTTTAATCCATCTTGAGTTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTATACATATGGCTAGCCAGTTTTCCCAGTACTATTTATTAAACAGGAAATCCTTTCCCCATTTCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTCTTCCATTGGTCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTGTAGTTTGAAGTCAGGTAATGTGATGCCTCCAGCTTTGTTGTTTTTGCTTAGGATTGTCTTGGCTATGTGGGCTCTTTTTTGTTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGAGCAGTATGGCCATTTTCACGATATTGATTCTTCCTATCCATGAGCATGGAATGCTCTTCCATTTGTTTGTGTCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAATTGGATTCCTAGGTATTTTATTCTCTTTGTAGCAATTGTGAATGGGAGTTCATTCATGATTTGGTTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTAATCAGCTTGAGATTTTTGGCTGAGACAATGGGGTTTTCTAAATATACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTATTTGAATACCCTTTATTTCTTTCTCTTGCCTGATTGCCTTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAAGAGGGCATCCTTGTCTTGTGCCAGTTTTCAAAGGGAATGATTCCAGTTTTGGACTATTCAGTATGATATTGGCTGGGGGTTTGCCATAAATAGCTCTTATTATTTTGAGATACGTTCCATCAATACCTAGTTTATTGAGAGTTTTTAGCATGAAGGGCTGTTGAATTTTGTCGAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCATTGGTTCTGTTTATGTGATGGATTACATGTATTGATTTGCATATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCAACTTGATCATGATGGATAAGCTTTTTGATGTGCTGTTGGATTCTGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGCTCCTCAGGGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCAGCTTTGGTATCAGGATGATGCTGGCCTAATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCCGAAGAAATGGTACCGGCTCCTCTGTACCTCTGGCAGAATTCGGCTGTGAATTTGTCTGGTCCTGGACTTTTTTGGGTTGGTAGGCTATTAATTATTGCCTCAATTTCAGAACCTGTTGTTAGTCTATTCAGAGATTCAACTTCTTCCTAGTTTAGTCTTGGGAGGGTGCATGAGTCCAGGAATTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGTATAGAGGTGTTTATAGTATTCTCTGACAGTATTTTGTATTTCTGTGAGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGCGTCTATTTGATTTTTCTCTGTTTTCTTCTTTATTAGTCTTGCTAGCGGTCTGTCTATTTTGTTGATCTTTTCAAAAAACCCGTTCCTGGATTCATTGATTTTTTGAAGGTTTTTTTGTGTCTCTATCTCCTTCAGTTCTGCTCTGATCTTAATTATTTCTTTCCTTCAGCTAGCTTTTGAATTTATTTGCTTTTGCTTCTCTAGTTCTTTTCATTGCGATGTTAGGATGTCAATTTTAGATCTTTCTTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTACACACTACTTTGAATGTGTCCCAGAGATTCTGGTACGTTGTGTGTCTTTGTTCTCATTGGTTTCAAAGAATATCTTTATTTCTGCCTTCATTTCGTTATTTACCCAGTAGTCATTCAGGAGCCCGTTGTTCAGTTTCCATGTAGTTGTGCAGTTTTGAGTGAGTTTCTTAATCTTGAGTTCTAATTTGATTGCACTGTGGTCTGAGAGACAGTTTCTTGTGATTTCTGTTCTTTTACATTTGCCGAGGAGTGTTTTACTTCCAATTATTTGGTCAATTTTAGAATAAGTGCAATGTGGTGCTGAGAAGAATGCATATCCTGTTGATTTGGGGTGGAGAGTTCTGTAGATATCTATTAGGTTCACTTGGGGCAGAGCTAAGTTCAAATCCTGGGTATTCTTGTTAACCTTCTGTCTCGTTGATCTAATATTGACAGTGGGCTGTTAAAGTCTCCCATTATTATTTTGTGGGAGTCTAAGTCTCTTTGTAGGTCTCTAAGGACTTGCTTTATGAATCTTGGTGCTCCTGTATTAGGTGCATATATATTTAGGATAGTTAGCTCTTCTTGTTGAATTAATCCCTTTACCATTATATAATGGCCTTCTTTGTCTCTTTTTATCTTTGTTGGTTGAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCTTTTTTTTTGCATTCCATTTGCTTGGTAGATCTTCCTCCATCCCTTCATTTTGAGCCTATGTGTGTCTCTGCATGTGAGATGGGTCTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATATTCTAGTCTGTGTCTTTTAATTGGGGCATTTAGCCCATTTGCATTTAAGGTTAATATTGTTATGTGTGAACTTGATCCTGTCATTATGATGCTAGCTGATTATTTTGCCTGTTAATTGATGTGGTTTCTTCATAGCATCGATGGTCTTTACCATTTGGCGTGTTTTTGCAGAGGCTGGTACCAGTTGTTCCTTTCCATGTTAAGTGCTTCCTTCAGGAGCTCTTGTAAGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTTGTCTGTAAAGGATTTTATTTCTCCTTCACTTATGAAGCTTGGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCCGAGAGATCCACTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACTTTTCCCTCTGGCTGCTGTTAACATTTTTTCCCTTCATTTCAACCTTGGTGAATCTGAAAATTATGTGTCTTGGGGTTGCTCTTTTTGAAGAGTAGCTTTGTGGTGTTCTCTGTATTTCCTGAATTTGAATGTTGGCCTGCCTTGCTAGGTTGGGGAAGTTCTCCTGGATAATATCCTGAAGGGTGTTTTCCAACTTGGTTCCATTCTGCTCATCACTTTCAGGTACACCAATCAAACATAGATTTGGTCTTGTCACATAGTCCCATATTTCTTGGAGGCTTTGTTTGTTTCGTTTTACTGTTTTTTCTCTAATCTTGTCTTCTCACTTCATTTCATTAATTTGATCTTCAAACACTGATATCCTTTCTTCCACTTGATCGAATCGGCTATTGAAGCTTGTGCATGTGTCATGAAGTTCTCATGCTGTGGTTTTCAGCTCCATCAGGTCATTTCAGGTCTTCTCTATACTATTCATTCTAGTTAGCCATTCATCTAACCTTTTTTCAAGGTTCTTAGCTTCCTTGCAATGGGTTCGAACATGCTCCTTTAGCTTGGAGAAGTTTCTTATTGCCGACCTTCTGAAACCTACTTCTGTCAACTCGTCAAAGTCATTCTCCATCCAGTTTTGTTCCATTGCTGGCAAGGAGCTGCGATCCTTTGGAGAAGAAGGGGTGCTCTGGTTTTTGGAATTTTCAGTTTTTCTGCTCTTCTCCTCATCTTTGTGGTTTTATCTACCTTTGGTCTTTGATGTTGGTGACCTACAGATGGGGTTTTGGTGTGGATGTCCCTTTTGTTGATGTTGATGCTATTCCTTTCTGTTTGTTAGTTTTCCTTTTAACAGTAAGGCCCCTCAGCTGCAGGTCTGTTGGAGTTTGCTGGAGGTCCACTCCAGACCCTGTTTGCCTGAGTATCACCAGCAGAGGCTGCAGAACAGCAAACATTGCTGCCTGATCCTTCTTCTTGAAGCTTTGTCCCAGAGGAGCACCCACCTGTATGAGGTGTCTGTTGGCCCCTACTGGGAGATGTCTCCCAGTCAGGCTACACGGGGGTCAGGGACCCACTTGAGGAGGCAGTCTATCCATTCTCAGAGCTTGAACGCCGTGCTGGGAGAACCAGTGCTCTCTTCAGAGGTGTCAGACAGAGATGTTTAAGTCTGCAGAAGTTGTCTGCTGCCTTTTGTTCAGCTATGCCCTGCCCACAGAAGTGGAGTCTATAGAGGCAGTAGGCCTTGCTGAGCTGTGGTGGGCTCCACTCAGTTCGAGCTTCCTGGCCGCTTTGTTTACCTACTCAAGCCTCAGCAGTGGCGGACACCCCTCCCCACCACCAGGCTGTAGCCTCACAGATCGATCACAGACTGCTGTGCTAGCAGTGAGCAAGGCTCCGTGGGTGTGGGTCCCACTGGGCCAGGCACAGGAGGGAATCTCCTGGTCTGCTGATCGCTAAGACCGTTGAAAAGTGCAGTATTTGGGCGGGAGTGTACTGTTTTTCCAGGTACAGTCTGTCACAGCTTCCCTTGGCTAGGAAAGGGAAATCCCCCAACCCCTTGCACTTCCTGGGTGAGGCGACGCCCCACCCTGCTTTGGCTTGCCCTCCGTGGGTTGCACCCACTGTCCAACCAGTCCCAATGAGATGAACCAGGTACCTCAGTTGGAGAAATCACCCATCTTCTGCGTTGATCTCGTTTGGAGCTGCAGACCAGAGCTGTTCTTATTCGGCCATCTTGGAAGCAACTCCTATGTATAAGTCTTAACTAAAATATCAGCATAACAAAGTCTAGCAATAAGTTAAAAATAAATCCTAACAAGTTTAGGCTTCTATTAGGAATGCACAGTTTGTTTAACTTTCAAAAAAGTCCATTAATATAATTCATTCTATTAAAAGATTGAGGCAGAAAAAAATAAATGATCATTCTGGTAGCTGGAGAAAAATCAGTTGATGTTATTTAAAACCCATTTGTAATTGGAAGAAGTTTCACCTAACCTGACATAGGGGTCTCACTTAATGCTGAAACATTAGAAGTTTCTAAACGTAGAATAAAATAAGAATATCAGTGTCATCACTTTTTAAAAATATCTTAGTGACTATATGAATTTCAGTAGTAATACAAGTAAAATAATAAAATGTTTATGAATAAGGAATAAACCTGTTATCATCTTTATAGGCCATATCTGTTTTTTACATAGAAAATCCCTAGAGACTGTCTAGAAAAAATATATCTGATACAAAACAAGATCTATCGAAGTATCAAATGTGTTTCTATATTCTTACAACAGACAGTTAGAAAATGTAATTTCACAAATTTTATTTTCAATATCTGCAGGTGTTGAGTACCAAAAAATAAATTTAAGAAAGAACAACATAAATGTTGAGTTGTATCACGTTTATGCCTGGGAAAACTCAATACCAGATGCCAAATTTTTCCAAAATAAATTGAGTGTGATTAATGTGATTCCAACTAAATTTAATGTGATTCCAACTAAAGTCTTAACAGGGACTTCATGAGACTGTACAAGTAAATTTAAAATTTACAATGATGAGCAAAGGATCAGTAATGAGCAAGAATAGTAAAACAAGACAATTTTAAAGAAAAAGAACCAAGTTGGGGGACTTTCTGTGCCAAATGCAACACTTTCATAATGCTGTAAGGATTAAGATGATGTTTTGCTGGGTCAGGGATAGACATGTAACACAAGGAACAAAAATAGGGAGTCCAGAAACTGGATATCTGCTGTGTTAATCTTCTCCCATGTTACTTATAGCTTTGCTGTAATCCGTCCTATGCCATATCCAGTTGTTATAATATCCCATGTTACATTCAATTTAATATGCCAACTAGTGGCTAAAGAAAAGATTTCTGAGTGGGAGCTAAACACTGGGTACTCATGGACATAAAGATGGCAACAACAGACACTGGAGACTACTGTAGGGGGAAAGGAGAAGGGGGCCAGGATTGAAAAACTACTGGATACTCTGCTCACTGCCTGGGTGATGGAATCAATTATACCCTAAACTTCTGCATCGCATGCGATATACCCATGTGACAAACATGCACATGTATGTCCTGAATCTAAAATAAAAATCAAAATATGAACAGATAGCACGTGCCTGCAGTCCTAGCTGCCAGGAGGCTGAGGAAGGCGGATGGCTTGAGCCCAAGAGTTTGAGGCTCCAGTGAGCCACGATCGCACCACTGCACTCCAGCCTGGGTGACAAAGCATGACCCTGTCTCAAAATAAATAAATAAACAAATAATATAAATAAGTAAATATTTTCTTTTTTTAAAAAAAGGAAATATTCTTGAATGCATTTTTCTGGAAGCCTCCTCCTGGTACCTCAGAATTCTGCTTCCTGGAATCTCTGGCAGGTAGAAATGACCATAAAAGTTTGATTCTACTCAAGACTTTTTTGGTCATGGACTATGACAAGCCACATTGCTGATTGCAGACCCTCAACATTTTAGAATAAAATATAGAACTAAAAAGATTTATGACAGGGTGTGTCTCTCCCTCTGTCTTCTGTTCAGAAAATTTACCCATTCTCAACAGCCTTGCTTTCCCTCTGCAATCTGGGCATTGCTTCCGTCAGTGGTGTCTTCACATGGAATTGGGGAATTGGCAGCTTTTTTTCCCCTTTCTTCAGAGATTTAAAGTAAATGACACCTTAGATCAGATAGATGAGCATCATCCTTCCTCCTCCCTTCCTTTTTGGATAGATTTCATCTTCATCTCTCTTGCCCTTCTCTCTCTCAGTCTTTCAAGGTTGCTGAGAGCTCAGAGGGAATGGGATTGATTTCACATGAGACCTTACTATTTAGGGTCATCCTGAACCCATGCGAAGCATTTTCTTTGCAGCAGGACAGAGTGCCTGGATTTCTTCTTCTTATTGTTATTTTATTATTATTCATCTTTACCTGAATGCAGAGGCTCATTCTGGTGAACACGTGCCCTATTGGGAGTTGGTCTTGCTGGACTTCTTTGATGGCTGGACCCCTGGCTTTTTCTCTCAAGGTTATAAGAGCCGGGCTTCTGGGTCAGATGATGCTTTCTCTGTGGAGGCACAATCACTCTCTTCTTTTCTGGCTCAGTGTTGAGGCCTCCCGTGCTCAGCCGTAGAGGTCAATGCTACAGAGCTGACTGAGGCAGGAGGCAAGGCTGAGCCTAGGATCAGAGGGCTCTTGTTCCAGGGCCAGCAGCTCTGCAGGAATGAGACCAGGCACCATTGTGTGAGGATCCTAGGGGATGTGGAGGAAGGAAAGGTGTGATCTCAGACCCACCCACAGGGTCCACCTGTGCCCCATGGGCTCCCCCTGCCTATACTGCCATTGACGTCTGAAAGCACAGCTTGTAATCCCATAAGGATTGGGCTTCTGAATCCTGCCTGGGGGGCCAAGCAGTGGTTTGCTCCCAAGCCCTCTTTCAGCCTCACTGCTTAGGGCAACATGGTGTAAGCAAACACCATGATCCAGGCAAGCCAGACCTTCCTGGAGCCTCCTTCGTTCTGGCTTATCTCCAAGTGTGTGATCCCACCATGCCCTCCGCCAGGGGCCTGTCCACATCCGTTTCCGTCTTTGGGAGCTCTGGCTATCCTTTAAAGCCTATGCAGACACCTCTCCTCCTCCTACCCCCGCTAAGGACACGTAGCTTGCGTCCTACATGTTTGAGTTACATTTGCCCCAGTCACCCCCTCCGTGGTGAGGGTAGGGCTCAGAGCTCTCCTCACACCAAGAGTGGGCCCCAGTCATTGCTGGCTGGGGGAGGACAAAGGCAGCCAGATAAAGGCAGCTCCTGCAAGGACGGAGAGGCCACAGGCCGGCATCTTCACAAACTGTGGATGTACTGTGTCTTCCAGTAGTCAAAATAAAGAATATATTTGGCCATTTTCAGACTATTTAATACAGAACAGTTTACACACAGAAGAGGAGTGAGGAGGAGAATGAATCCCTGCAGCCCTACCCCTGTTTCCACGGTTATGGGTGTTTGCCAGCACAGGGCTGCCCAGCACTGGTGAGGGGGTCACTGTTGGCTGGCATCTGTCGGGCATCCCCGGGGAAGCTGCGCCGGTGCTGTGGCCACTGAGGTCCTCATAGGGGTTCTGGCCACTCACATTTCCGAGGTTCTTCATTTCCCACCTCAGATCACTGTTTTCAAACTCAGTTTTCAGCAACAGGGCCTTTCTTCAAACTCATCTTATCTCCACCCCTAATGCTCAAAACAGATAAAGTAGTATTAGCACAAATCCATTACAAGAGTTTACTTTTATACTATGTACTTATAAAATCAATTTGCCTATGGGAAAGAAGCGTAAAACTACCATCATGGGTATTAAGATTTGGATTTTGATAACATTTATGTGTTACAATTTCATGTAGCTCAATATTCTGTTTGGATGAAAAACATTCAGAAATCACTGAGTCACAAATCACTGAGTCACAGGTAAGCTGTTGCTAATAGCAACAGTTTTTTTATCTTGTTTTTACCTGTTTGCCTTGTGATCTCAAGAGTCTCTTCAATTAAATTGATCCAAATGCTTGAAAGAAAGGCTTGTAGGAACTTTTTTTTTTTCAGAGTTGAATCACTGATCTAACAGATGCTCAGTCTTGATTATAAATATGAAAATCAGACAGGAAGAAACCCAAGCTTAAAATAAGCAAAACTTTGTTCCCCATAACATGCATCAAACCACACTATTCTTAATTTTTAATTTATTTTTATTTCAAAAATATTTATGTTTTTATTTTATTTTATTAGAGACAGGGTCTCGCTCTGTCTCCTAGGCTGGAGGACAGTGGTGCAAACATAGCTCACTGCAGCCTCAAACTCCTGGGCTCAACTAATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAAACATAAGCTTATGTCACTGCACTGATTAATTTTGTCAGTGTTTTGTTTTTGTAGAGATGGGGTCTTGCTTTGTTGCCCAGTCTGGTCTCAAACTTCTGGCTTCAAATGATCCTCCCCTCTGGGCCTCCCAAAGTGCTAATATTATAGGTGTGGGCCACTGTGCCCAGACTATAGACCATGCTTTCTATGTTGCTGCTACTGAGGGTGATTGATGGGGGAACGCATCCCACGTCTGGTGCGGGTTAGATGCCATGTAATTGGAGGGACAGACTTTAATTTTTTAAAAGCAATGCAAAGCTGAAATCTCATTTGGTGACTCCTTTATAAGAGATTCAAATGCGTGCAAATTCATGGCCAGAGAGGCTTTAGTTTAACTTCCATGCAAAAAGGAGTTAAACAGGACACATAAATTAACACAACGGTAGTCTCTAAGAGTTAAAATTTTGTTAATAGTCATTTGAGTGTGTGACTTTTATTACCATTTTCAAATTCAAAGGAACTAAAATATTGGAGGTAAATATTTCCAGAAACCTTGAGGCGCCTCCATAGGGTCTCAGGGCTCCAGAGAACCTAGCTTGAAGATCATGATACTATCCAGAGTGAGCTTGTGCAGGTCCACATTTTCAGCTATTTTGTGCCCAATCACCATTTATAATGTGACTCATTAACAGTCAGATACAGACTACGGTCAAGCAAAGAATATTTACATCTTGATCCTACCTCCTCCTCTCTCTTTCCCTATGTGTTTTTGGAAGTAAGGGGGGGGGATGTGTCCTTTCATGACAACTTGGCTCTCGCCTTCTCTCCCTCTCTCCTTTCTCTCAGTCTCCCCCTTTTTCCCCCTTATCCCCCTTTCTTCCTTCCCTTAAACTTCATCACGTTTTTGCTTGTTTCATATTCAAATCACGGCTTTCTCATACAATTACTACTTTTTTCCTAGAGTTTCTGGTTGCCTTTTCTTATTATAAGAATGTTTAAAACTGTGTCCTTAATCAAGTCCATGATGTTTTTCAGCTCATTATATCTCCTCTTTCTTGCTCTGAACCCATTTGGTTCTGTCCTCAGTACTTTAACATCTTGCTGGGATTTGGACCCACCTTTTTCTAGGCCTCCTGCTCAAGTCATCCTCTAAATCTCTTTTATCGATCTCCAGGTTTAATCTAAAAGTGTATTCTTTCTCAGGTTTCACTCTCATTGTTCCAAAGCTGACCAAGGAAATATATGTTGGGAACAAGCTCTTCAAGGCTTTAATGTTCTTGAAAACCCCTTTTTTTTTGCCTTCATGCTTGGGTGGTTTTTCTGCTGTGAGAAGTGTCTTCGTGTTATTTCTTAATTTTTTCCCTCCCACTCTCCCTGATGGAGCTTCTGTGAGTGAGGCGAGTTCCCCCAGCCTTGTCCTCTACGCTGTCTTCTTTCTGTGTTACGTTTGATCTCTGTGATTTCTATCAGCCAAACCTCCCACCTACTCATAAAAAGTTATTTCATAAATCATACCTTTAATTTCCATTTTTCTCTCTTTTTTCTAATTGCTATATCCTCTTGAATGTTGTGAGGACATTACTTTTTTAAGAAGTGATTTTTCCTTCTTTTCATTGACTCATTCTTTTTGGATCTTTTTTGGTGTGTATCCTCCACTGTGTGTCGCATGCTGAAGACTGTCCTCCGGTATCTGTGATTCTAAGTTTCCCCTTGAGAAATCTCAGACATGGGAGAGGCTGCCTGAGGCTCTGTAGTCATGGGCAGCTCCTGCAGGGGCCATAGTGGCCAAAATGAGGGGAGCTTTACTCTGGGGTGCTGGTACTTTGACTGGCTGCCTGTGTTTTTTTGAGGTGGTTTATTTTTCTTTACCAGTAGGGCTGTGTTTTAAGGGTACCCAGGGTTGGTTTTAATCAGGCATGGTGAGACACTTAGACACAGAAGTGACTGTCCTGAAGGAAAGCAGTTTTACTCACTGTTCTTAGAAGCAGAAGGACAGGCTAGGCGCGGTGGCTCAGCCTGTAATCCTAGCACTTTGAGAGGCTAAGTGGGGGTGGATCACGAGGCCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTCTACTAAAAATATAACAATTAGCCGGGAGTGGTGGCACGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAATCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCCCTGCACTCCAGCCTGGGCAACAGAGCTAGACTCCATTTCAAAAAAAAAGGGAAGCGTAGCACATGCAGGGACACAGGGAGGCACCAGGGCCACGCGGGAGGCCGAGAGAGTGCGGGAAACCTGAGCAAGGGCCGTCCTTCATTGTGGCTTCTGCAGGAAGGAAGGGAGGAGCAGGGCACGCAGGCTTAGGTTTAGGATTAGCTCCTTAGAATAATTGCAGTAGGCCCTGGGGCATAGGGACTCTTCCTGGTTGACTTTTACCTGGTCCTGCAGTGATGAGAGCAGGACTGGTGTCAACCCCAGTGTGACAGCCTGATAAAGGATGTGTTTGGGTGGGGGTATGGGTTCTGGATTGATTGATTTGTGTTTGAAAGGCCAGAGTTGTTTACTATCTCTCCAAGGGGCCTCCAGAGTCAGCAAAGCCCCAGATGTCAACACATCAGAATCCAGAAAATAAAAGACAAGGCTAGTACAGGCTGTTGGTGTAATTGCTGTTGGGGCTGTGTGTGTGTGGGTGTGTGTCCTTTATCCCAGTTGTTAACTCCTGGCTGCAGGAGGCTGGAACAGGGGACGGAGAGGGGCAGTGGTGCATCCGTCTAAAACTCGCACTTACTTCTGTTGTCTTCCCTCACTCTCCTTCTTTTCATCGCTAACTGTGGAGCTGGAAGCCCTCTGGGGTTGTGGTGTCCAGCTCCCTCCTGCACCTGCAGTTCAGTCATTCAAGATATATATGTGGGCCGGGCACGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACATAGTGAAACCCCCGTCTCTACTAAAAATACAAAAAAATTAACCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAAGCTGAGGCAGGAGGATGACATGAACCCAGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCTAGCCTGGGCAACACAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAGATATATATGTGAAGCACAAACCAAGTGTGGGTCCGCTTCAAGAGGCTGGAACTAGAGCTTTGGACACAGCGAGTGAAAACCCTGCCCCATGAGGCTCACAGGGTGGCAGCGTGCCTCACCCACCCTCTGTTCTTCTAGACACCATGAAAATGTCACATCTGCCGATGTCCTCCAGAGTTGTTTACAGGTTTCATTTGGTTAAGAGCTTGGTTTTATATACATTGTGAGAAAAATCACCAGTTCGGTGTGAAAATTGAAATGGGGGTAGACACTGGCCCTTCCAAGCTGTGCCCGGGGAAGACCTCCCAGGCCAGTCCCAGTGGTGCTCTCAGGCAGCGTGTGGGGTTGTGAGGACAGACAGGGGCCCCTCTCAAGGTCTTTGCTGCTCCATCAAAGACAGACCCCAGGGCTTCGGGAAATCCACAGCCTGGTGGCACTGGCTCATGCAGTCCTTTTCCTGTTTCTAGTGCTGATGAGCGCTTTGACGCCACATTCCACACTAACGTGTTGGTGAATTCTTCTGGGCATTGCCAGTACCTGCCTCCAGGTAAGCTGCACCTCCTTTGTCCTCTTCCAGTTAGAAAACTGAAGCGAGTTTGGGTGTCAGTCAGTCTGGCCGGTGCCCCCGTGTGGTGGACCAGCTCTTTGCTTCGCCTTTGCTCACTCCCACCTCTTCCTCTCTCTTCTCTTCTGTGCTTCTGTGTGCTTTCTACCCCCAGAAGTCCATCCTCCTCTTTTGTCTCAATCAAGCCGTCTTTGCCACTATGTCCTTATTTTCTGCCATGTGTGCCTTAAAGCCAATGTACAAATACAGCGAGTCTCCTTTGCCGGGCAGTGGCCACCTCACCTTCCAGCCTGGCAAGCCACCTCTCCAGGCTCTGCTTCTCAGTTCCAGCTTGCCATCCTCCTCCCTGCGGGACTCAGTGTCTTGGCAGGTGCAGCGCTCCAGCTGCCGGGGGTGAGATATGACAGTTCCAGGATCCTGAGTGCGTGCGCTAAAGAGCACACGCAGGTTACAGGCAAGGTCTGGTGGTTTCAAGGGAGAGCTCTCTAGCGGCTGACTTCTTCCCAACAGTGTCTCACCTCCAAGGCTAAGTGCTCCCTGGATTGGTTCTTTCCCACCAGTCCATCTTTTCAGTCGATTCACAGGGCAAGGGAAATGGGTTTATGGCCTAAAGGTGCATGCAGAGTGCGCACTAGCATATTGATAGGAACAGCTGGGGTTTTTGATCTTTTAGAAGATTTTTAATGTGTTTATTCCAGGGTGATCTCCCACACTGCAGCTGTTTAACTTTCTGCTCAGAGGCAACCTGCAATTACCTCCACACCTAACTACCACTCACACATACGACTCACACACACACCACTCACAACCACTCACACACAGCCACTCACACATACCACACACCACTCACCCCTCACACACACCACTCACACACATCACTCACATACCACCCACACGACTCAACACTCACACACCACTCACACAACCACTCACATACCACCCACACGACTCAACACTCACACACCACTCACACAAATATACCACCCACACACCACTCACCACTCCACACATACCACTCACACAAACCACTCAAACCACCAACACACACACACCAGACACACACACACCCCTCACACACACCACTTACACACCACTCTCACACACCATACACACCACTCACACACGACTCACAACCCTCACACACACCACTTACACACATGCAGGCATGCACTCTCAAACCAGATACACTATTCACACCACTCACATACCACACATACTGGCTGTGCCTTCTCGGTTGCTGTCTGAGTGCCTTCCCTGTCAGCAGGTGACAAGCATCTGGGGGCACAGTCAGCCTTTGCTCACCTTAGCATTTATCCCTGAATGAACAAAGGAGCGAGTGAACCTGTCAATGGTAGACACCTCCCAATAATATTGGAAGAGATTGAAGAAGTCCAGCTGTTCAGGCTTCTCGAAGCATCCGCTTTCCTGCTAGCCCTGGCATTTCCTCCTACCAGCAGGACCCTTGCAAACAGGGGTAGTGGGGGGAGCCTTCCATCACTCCCGAGGTCTTTCTCGCCAGGCCTGCGTGTTGCAGCTTCTGTTATGAGGGCTATTTTAGAAAACAGCCTCCGGTAGTCACCAGTGTAGAATATGCTGCTGCAGGTTGTTTGGAAGGCTGAGGCTATTTTCAGCTGCAGGACCAGCACTGCAAGCCTCGAGCTGCCTGAGTGCAGCAGCCCCCTCTGGAGCTCCAGGCCTGTGTCCCCACTGCAGTGGCCCTGGATTCCGGTCAGGACAGGACACGTTGTCTTGTGACCATGAGGGGCTTCCTTACGCTGGCAGGAAAGGCCCAGGGCCGCCTGGATTGGGAAACCCCTGCCTGCTCCCTGGGAGTGTAGAACGAGTCCCAGGATGCTGCCCTGTCTGTAGTTAGAGGGGCATGGATAGGAAAGAATGTTTTGAGTTCAAGCTTTGAAATAGAGACTTGACCATAACATGACTTTCCCCCCCATTTCATGTGTTTATTTTTTAACAGCTTTATTGAGAGAGAATTTACATATCATGCATTTTAAGTACATGATTCAACAACTTTTAGTATATTTACAGACTTATGCAACCATTACCACAGTCTAGTTTTAGAACATTCCCATCACCCCACAAAGATCCCTTTTGCTTGTTTGCAGTTAATTCCCATTCCTACTCCCAGCAACCACTGATCTGCTTTCTGTCTCTAGAAATTCTCTGTCTGTCTCGGGCCATTATTTCGTAGAAATGGGCTCATGAAGTTACAAAGCTTTCCAACTAACTGGCAGACAAGGTGGGTTTTGGGGGGATCCAACTATTAATGGAGGGGGATTGTCTGTGATGATTCCAGATTCCTATAAACATTTCATGTAAGGACGCAAAGCATACTTAAAGGAACTTCAGGGGACAAAATGTGTATCTTTTCCCAACTCGGTTGTGGGGTGGGGTCCTTGTGTGCAAGGCTGTGGAGGCCCTTCCTGCGTGCACTCTTTCTGTAACTCAGTAACAGAAGTTTGCAGAGTGCCAGCCCTGCCCCAGGAACACCTGGACACCGAGTCTGTGCCTGTCTTCTTGTGCCATGCAGCCTTCCTCTGGGCAGGGAAGAGCACATGAGTGTAAATAACTGGAGTGGCCTCTATCTGGTTTCCTCCCCTTGGCCCTCTGGGAAATCCACTTCCAACCTGTCCTAGCCTGGAATAGCTCTTTTCAGCGGAAACTCTTCCTTCAAGCACCATCTCTTCAGCTTAAACCTATCTATCTGTTCTTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTAACTTTTTTTCTTACAGACAGATTCTAGGTGTGTTCCCCAGGCTGGAGTGCAGGGGCTCGATCATAGCTCACTTCACTTTAGCCTCAAACTCCTGGGCTCAAGCAATGCTCCTGCCTTAGCCTTCTGAGTAGCTGGGACTACAGGCATGCATCACCTCACCCAGCTAATTTTTTTTATTAGAGATGTCTCACTATGTTGCCCAGTCCGGTCTCAAACTCCTAGTCTCAAGTGACCCTCCCACGTCAATGTCTTAGAGTCACTGGGATTACGGGCATGAGACACTGTGCCCAGCTTGTTCTGTTCTTCATCTAGAATTTAAATTAGTTAAAATTCTAGCTTTAACCAGAATTCTAGATTGTATTTCTCGATAATCATGTGTTCTTCCCATTTTTAACCTAAAGAAAATGCCTACCTCACCCCGCACCAAACAGACACACACACACACACACACACACACACCTTTTAGATTCTATTTCTAACTTCATCATCAGGGTTATCAACTTCTCTGAGATATTTTGCATTCTTTACTTTTATTATTTAGAGTCTGAAGATGCTCATGGTAAATGCAGATTATAGAGCTAACTTTTTGCACAAAAAGCCCACAAAACAGTCTTTGAGAGAGCATGTCAGTGTTACGTTTGGATTTTAAAAGACAGTGAAGCTTAGCTGAGATTCTGTTTTACAGATTTTGCGAATAAATAAAAAGACAGATTCCATTTGCTCTGGACTGTGTTAGCTGCAGTGCGGAGGGCGGAACCGGCTGAAGGAACTGCTGTGTATTTTCAGCACATCTCAGTCAGCTTCCGTTTCAGTCTTCTGTTTCCATCACCCACACAGGCATATTCAAGAGTTCCTGCTACATCGATGTACGCTGGTTTCCCTTTGATGTGCAGCACTGCAAACTGAAGTTTGGGTCCTGGTCTTACGGAGGCTGGTCCTTGGATCTGCAGATGCAGGAGGCAGATATCAGTGGCTATATCCCCAATGGAGAATGGGACCTAGTGGGTAAGCCATGGGACTAACCGCCTGGAAGAAAGCTTTCCTATTCCTGGGCAAGCTTTAAAAGTTTGGGATTTTCCACTGTCCTTTCCGGTGCGAGCATTTATTGAATTTTGCAGTAGTCTCCATAATTTACTGAGAGCTACAGGAGGAGAAACAGAAAACAGTTAGGATATGCCATGCTTTCCAAGAGGAACTGGCAACTGCAGTGAGGATGCATTTAAACAAACCAGTGTGAGGATAGATCTCTCTACGTTATGCAGATCCACTCCATTTCTAAAAGCAAGTTGAACAGCAAATTTCAGTTGATGGGAACCTATATTTGATTATTTTAAAATAGGAAAACAGTGATTACATTTATAACAGTGTAAAATTGGTAATGTATTATTTATAATTATTATAATCATGTGTTTCCAATCCACCAAAAGAATATGTACCAATTTGGCCAACTATCACTAAAATACTCTTAACTCTATAGTAAATCAACAAGGTTTTATTCAAGCTAATTACAACCCCCCCCTTTTTTTTTTTTAGCACTTTGCAAACTTTAGGACTGTGCTTGTGTGTGGTATACACATTGAAATAAACAGGGTAATTTATTGTATTCTAACAATGGCTCCTTCTCTCCTCCTCCCTATGGAGGAATCCCCGGCAAGAGGAGTGAAAGGTTCTATGAGTGCTGCAAAGAGCCCTACCCCGATGTCACCTTCACAGTGACCATGCGCCGCAGGACGCTCTACTATGGCCTCAACCTGCTGATCCCCTGTGTGCTCATCTCCGCCCTCGCCCTGCTGGTGTTCCTGCTTCCTGCAGATTCCGGGGAGAAGATTTCCCTGGGTAAGCGCCCCAGTGTCTGGCGGGAGTCTGAGACTGGAGACCTTCTGCTGAGATCAGCTCTGGAGGGCTCACAGCAGACAGCGCAGGACTCCATCAGGGTTCCTGGGGATTCCCTGGCTCATCCCATGGACCTCCGAGCCCACGGTGGCTCCAGGACACCAGAGGTCCCTGATTCGGGCTCCGTGCTGGACGGCTGTGTAATCCTGAGAATACTGGAGGACCCTCAGAGGATGGGGGATGCACAGGGAGGGGGCCAGCTCCATTCTGCCTTGAGAGGCCTGTGCTTTCTTCCCTCCTGCCACCCCACCTGTTCCTCAATGGCGACTGGTCATCGAGGGAACAATTTAGCTTAGTATCAGCTTGCATTTGTATGTTACAGTACCCAGTGTAATTCTTACGATCACTCCCATACGAAGCTAAGGAAACCAAGATTTTGAATGGTGGAATGAGTTTCCCAATGTCTTAAAGAGTTGCTAAACATCAGATGTAGCATATGGTAGAAATCATTCCCAAACCCATATCTTCTGAGTATGAGGTTCAGAAAGGTTGAATGTTGTATCTAAGGTCACATAGCTAGTTGAGTAGCAAACGTAAGACCTGAAATCAGGTCTCCTGACTGCATATTTTCTTTTTCCTGCTACGTGAAACTACTTCTCAATAATATTTTACAGAGAATATGAGAGATAATTGTGCCAAGTTAAATTTTTCAGTTTGTGTTGATGCTTTTAAAATTCTGGGTCCTAAACTTGTCTCCATAAGAGACTCCTTTGGGACTCTGGTAAGTGGCATGGAATGTCCCCTGGAAAATGCACACGCCCATACATAGGGAAAACGTGCATTCCACGACATTCCCCCCAGCGCCTCCCTTTCTTTTGAGTGTCAGGTTAGGAGCCCTCGTTAGACAGAATTGAGGCCTTCTTGTCTGTTTTTGTCTGAGGAACCGCTGTGTGTTTATGTTTTAGGGATAACAGTCTTACTCTCTCTTACCGTCTTCATGCTGCTCGTGGCTGAGATCATGCCCGCAACATCCGATTCGGTACCATTGATAGGTAAGGCAAGAGTTGGGCTCCTCTCTTAGAGATATGGGGTTAGGGTTAGAGTGTGCCCAGGATTTCCCAGCAGATGAAACTAGAAGAAATAGGGCTGCACTGCCCCCATTTTCTCTGGAAGGTGATGATTTGCTGTAACTATTCAGAGTCACCCAGGCCCAAGTAAGGGGAAGGGGATATTCAGCTTTGAGGTTTGACTTTTATCTCACAGAAATGCCCCCCTTCCCCTCATAATTCTCCTCCTCATGCTTGCTTTGAAGCCAGATATTTCATCGTTAGAGATGCATCATTTTAGCTTAAGATGTTGTTTTCCCACAAAGCCTTTGTTAAAATGGGAGAAGCACACAGTTACTGTGTCCTGAGATAACTCAATGTCTCTGTATAAAAGTTTCTAGGGAAATATGAATGAGAAAAATATATTTTGCACAGGTATAAGGCATGATCCTCTACCCAGGGAGGGACAACAAAAACAAGTCTCCACTCCCACTGGGCAGGGAAGGTTGGAAGGAGGTATACAGACTGTCATTACACCTGCTGGCCCCTGCTGTTTGAGGACCTATGCTGTGTCTACCTGGGGGTGGGCTAGAGGGAGAGCCCTACCTGGATACCCCCAGGCTTTAGGAACCAAGCAGCAAAGGCCCTTCTTTGTGGAACTCCCTGTATGTGCAGTATTTTGGCCAGAGAAACTGTTGGTATGAAAAGCCTTTGTGGGTATCATTTTTCTCTTGGTACCATCCAGACAGGGAAGAACCACCTTTCCACCTGATTCTGACTCCATTCTTTCTACCTTCCAGCACACTGCTTTCAGTAGAGATTTGCAGCCTCCCTTCCGGGGGCAGTTGTCAGGCCTTCTCTCTCTGGACTGATGACCCGCTGGGAAAGGCTTGGTTGGTGCATAGCCCACATCTCGAAGGATGGGATGTTGATGGCCCCAGGGACATCAGCTTTGCTGCCCTCTGTTGATGGAAATTCAGTCTGGGCAATCCTTTGACCCCCATCTCTCCAGAGGTGGTTGGTCTGCTCAGGCTGCCGTGACAAAATACTATGGACTTAGGGGCTTAAATAACTAACAGAAATTTATTTTCTCACAGTTGCACTGCTGAAAGTCCAAGACCAAGGGGCCATTAGGGATGGTTTAACCTGAGACCTCTCCCCCTGGCTTGCAGACAACCACTTTCACAATGCTTTGTCCTCCCCTGGTAGTTCCTCTGTGCACCTGCATCCCTGGTGTCTCTCTGTGTGTCCAAATTTTCTCTTCTTCATTAAAAGAACACCAGTCAGATTGGATTAGGGCTTACCCTGATGACCTAATTGTACTTAATTACCTCCTTAAAGACCCTATCTCCAAGTACAGTCACATTCTAGGGTACTAGGGGTTGGGGCTTCAACATATGAATTCTAGGGGGAAGCATAATTCAGCTCATAAGGGTCACGGTTTGCTCCAGTCTCCTTCCTTTTCTCAGGGGCCCTGATGCTAACTTTAGGTCTCAAACTTCCAGCTCTGGCAGAGCTCCTCCCAGGTACCTCTTGGTCTTTGTAGGAAGGCAGTGAGTTCCTTCCTGGCGTGAGGGCCTGTGAGGGCTAGCTGAATGCTTAGCGCCCTGTACCCTGATGCTTTCCGCTTAGAGTTCAGCCCCTTGAGTGGACAGCCACACCAAAGGTTTAATAATTAGAGCTGCCCACTAAAGAATGCCCCCTCCTTTCTCCTAGACATCTTGGCCTGTGTAATTGCTCATCATTGCACAAATCCTGCAAGGAAGAAGTTCCTATTTTAATGGAGGCTACCGTAACAAATTGCTGTAGTCTGGGGGCCTAAGCAACAGACATTTATTTCTCAGAGTTCTGCAAGGCTGCACGTCCTCGATAAGGGTGGCAGCAGGGCTCTGGTGAGGGGCCACTCCCTGGTTTACAGCTGGCCCTCTTCTCGCTGTGGCCTCACGTGGCAAAAAGAGAGTGAATTAGCTCTTTAGCCTCTTTTTATGAAGGACTCTAATCCCATTCATGAGGGCTGCACCCTCAGGACCTGTTGAAGGCCCCTGAGAAAATCACTCACCATTTCTCTACTTACACAACACTTCTGACACCAAAGCGGGGCGTTTCTCCCACATCGACCAATTCTTGGAAACCAGCTGGGCGTCCTACAGTGAGTTCACTTCAGTCCTGACACCACCTGGAGTTAGCACAGCACTCACAGATTAAGGCTCACAAGACCATTTCTACTTGAGATGCCAGTTAGAAGTTCCGGCTTCCCATGCTTCTGACCAAGTGTCTATAAATCGGGGAGTTCCCAAAAGCACATCTTTGAGTTCAGCCATTTACTAGAGTGACTCACTCTAGTAAACTCAGGGAAACATTTTACTGATATTTATTCATTAATTATAAAGCACAGATGAATAGTCAGATGAAAGAAATGCATAGGGCAAGGTATTTGGGAAGGGGCATGGAACTGCCATGCCCTCTCTGCCCTCCAAACACCTCCCCGTGTTCAGCACTGGGAAGGTCTCCACAGAACTCCATCCTTTTGGGTTTTTATGGAGGCTTCACTACATAGGCATGATTGATTACATCATTGGCCACTGGCGATCCACTCAACCGTCAGTACCTCTTTCCTCCCCAGGGGTCAAGGGTTGGGAGAGGGGACAGAGCTTGAAGGTTCCAACTCTCTAATTACTTGGCTGGTTCCCCTGGCAACCAAACCCCATCCTGAGGGTATCCAGGAACCTCAGCCATAAATCATTTCATTAGCATATAAAAAGACACTGATGACTTCAGAGATTCAAAGGTTTTAGGAGCTGTGTGCCAGGAAATGGGAGGAAGACTAAATACATATTTCTTATTATAAATCACAATCTCATACCTCCCAAAGCCCCACCTCCAGATACCATCCCAGTTAGGACTAGGGTTTTAACCCATGAACTTCGTGGGGACACAAACGTCATCCTTTGTACCACCCCCATTGGAGAGCTGAGGCCCGAAGAGGCTGAGCATCCACTCCAAACTCACAGCCAGTAGCTAGTGGACCAGGATGGAAGCACTCAGATGCTCCATGCTGCCCCTCACCTGGGCCCAGGTGGAAGGACACCCATGACCCATTAGAACCAAAGCTGAGACTGAAGTTCTCGTCCTGAAAAGTCCCTGCCACTGACCCCTTCCTCAGGCTGGACAGCTGGCAGCCAGGTGGTGTGCAGGTTTGCCCTCATTGTGCCCCTGGAGCACAGTAGAGGCCTGCATCATGAACACTGGATGGTTCCCATGCCCTCACATCCAGTATTTACCCACAGGAACAAGCTTATCACCATCCTGCCAGGCGATGCTAGCTCTTATTGACTGACAAGTCGGCCAGAGTGCATGGAAGTGCAATGAAGTGAGGGAAGGTCACTCCGTGGGCGGGAAGTCAGACCACACTGGCTGGTTTTGCCCACCCAGAATGTGGGCTGCAGGCCTGGACACATGGGCATCACTGCACCCTGAGGCCCTGACGGTCAGAGAACCTGATCAGGGTGTGCCTGTCCTGTGACGTGCAGTGCCACAGGATCCCCGGGTCTCACCCTGCATCTGTTCTCTCCACAGCCCAGTACTTCGCCAGCACCATGATCATCGTGGGCCTCTCGGTGGTGGTGACAGTGATCGTGCTGCAGTACCACCACCACGACCCCGACGGGGGCAAGATGCCCAAGTGGGTACGTTCCTCCCACCCCCGATGGAGTCGGAGCCCCCCTGTAAAGGAGGCTCCTCCTAGGGTTTATTTTTAAAATCACACAAAAAATGGGCATTCCTAAAGAAATAGCTTTGGGTTTTTTGTTTGTTTTTTTGAGACGGAGTCTCACTATGTCACCCAGGCTGGAGTGCAGTGGTGTAATCTTGGCTCACTGCAACCTCCACCTCCTGGATTCAAGCAATTCTCCTGCCTCAGCCTCCTAAGTAGCTGGGACTACAGGTGCCTGCCACCACACCTGGCCAATTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGCCAGGCTGATGTCGAACTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGTTCCCAGCCAGAAATAGCTTTGTTTCTGTATTTCGTCACCTATTGACGTGTCTTTGTGTAGTGTGCAGTCATGGTGCACGTGTTCCCGGATGCCCCGTGGCACTGCTGTCTAATCTAACTGCAGAGTAGAGTAAGGCTCTCAAACTGGCTGCCCTGTGTGTTCTATCAATCAGCACGGTGTTTTGAGAAGCTAGTTTGTTTTTTGATGCATGCCGTGAAGCACTGTGCTGCAGTTGGAAGCAACAGATGAGACAGATGCGTAGCAACATGGTTGAGGCTTCACAACAGAATGAGGAGCAAAGAGTAAGAAACGGAATGAGCTGTGTACAAATATGTACGTTCAGTACATCTAGGGATATCATCCAACCAGAAGTCTATGAAACAAAGACTAATTGTCACCAGTGCAGAAGGGGGAAGGGATAAAAGGAAACGGATGAAAACAGAAAGGATGGCATCCCACAGCCTGTCAGCTTAGCCTGGGCCATACCACTCCTGCCCCAGCTGCTGGCACCGTGCCCGGCCACATCTGCGGATGCTCACCCACCCAGGGATCCTCTCCTGCACGGTGTCCAGAGCTCTGCATCCACCCTTGCCTGGCAGTCAGGAAACCTTGATGAGGGCCTAGGGAGGGCCTGAGCTTCTTCCCCTCTTCATGTGAGCTTTGTAAAGCTTCCCCGTCCTCCTGTCTAGAGAGCCTGGCCTAAGGATTTGGGGAGCTAAAAAGGCCCTCACATTCCAAAAGTTGTCTGTCTTTGGAGAGCACTTGTGTCCCAGTTCAGAAGGGAATCTAGGAATCACCAACAAGCTAAATGCAGCTGTAGGGGGTGAGATGCTGTCAGGCACCCTCCAGGAATAGGGGATTGCTGGGCCTCCTGAAACAGTCATTGTGGAGTTGTTACCTGAATGCTCACTTAGCAAAGACTGCTTCTTAAGAAATGCTTTACAAAATTACTGTTTCTTCTCAGAGTTTCACCCACATGGCCCATTCCCCTTATACACTATTTAGTAAAGACTTACCTGTGAGCCCACCACAGTGGTGTGTGGCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTGGGAGGATCATGTGAGCCCAGGAGCTCCAGGCTCCAGTGAGCTATGGTGGTGTCATTGCCCTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTGACTTGTAGCTCATTACACAAGCAGTAATGTGAGCTCAGCCTACATGGTGATGTCTCACACACAGACCACATCACTACATTCCCTGAGGCTTGTTTTGTGAAGGCCCCCCCTTAAAACACTGGGGTACATTTGCACACATTCACCTGTATTTTTGTCTGATTTCCTTATAACGCTGACCCACACTTAAGAAAATGCAAGGCCAGAGGTGAGAGGCCTGAGAGCTGGAGGCTTGTTGGTTTGCTGCTCTTTCTGTCTGTCCATCCATCAGTTTGAAGCAGGTAATACATTTACCTGTTTCTAAAGTCAAAATAAAATTAAAATTATACATAAGGAAATCCTGCTCCCATTCCTTCCCCTTTACCCTGCATCTACCGTCAATACTGATAACCGTTTTAATGAATTCCTTATTTTTCCTTCTAGTATTTATTTATGCAAATACAAAAATCTAAACATTCTCATTTCTTGTAAGTATTTTGACTGATGAGAAGATAAGAGAATTAAGACATTGAGACACAAAACCATTTTTAACGACCTGGAGCACTCTACTGCTCTAGAACAATCTTAATTAAGAACATATGCTAATTATTCACCTCTCAGCATAAAAGCTTATTAAAACCAATTGGCTGCAAATGAAAGATGAAGCTTATGCATTTCTCTCGCTTTATATAGCACACTGCATTTTTCTTTCATTCCATGTGTATGTGAAACACAAACAGCCTCCGAGGGACTTTTATTATGATCTGTTGCTATGAAGAAGATACTGCCGGGTGCAGTGGCATTATGTGACATTTGCACAGCCAGAAACAAAACTGTAGCCTAACAGAAGAGGTCAAGAGCACAGTTTGAGGAGTGCCAAGAGGATAATTTTATCTTTTAAATGCTTTGGCTTTGAAAGTTAATGATTCAGGCCATGGAATTCAAAATGGACTTGGCAGAGTGTATCGTATGAGCTTGAGATGTGCACTGGGGGACGTGTAGACCCTGCCATGGAGGGAGAAGTGCCTGGTGCTGCTCGCTCCCTGTGTGCACTGCTGCCACTGGATGCAGGCACACTCACTGCCCTGCAGCCTCCCAGGAGAGCTGGCTCAGGCTTTCTGGTGCCTTCCCAGAGGGGTGGGGTTGTGCGAGTTTTGAAGAGAATCTTACAGACCCTTTGACAGATGAGACTGGGAAAGGCTAAACATGTGAAGTGACATAACCACTTACTTACTCATTGTACATCGTTGGGCCAGTTTATTAGCCTCTTTGAACCTCAGTTTGTTGGTCTGTAAAGTGAGGGGATTATACTCATTTCACCGGACCCTGAAAGGCCCAAGTGAGATGACTTGTCTCATGAGCCTTGTATGGACGGCCCAACTCACCCAAGGTTTCACCTGGGGCCATATGTCCCTGCTCCTTACTGATCATAAAAAACCCTCCAAGGTCAGCAGACCCAACCTTTCCAGGACACGCAGAGTGCCGCCTGCTTGTAAAGTACAATGGGAAACAAAGGGTTATTTTTATAGCTGCAATGAAACTGGTCTTGTGCTTCCCTGTTCTTGTCCCCAGACCTGTTTGTTGCAGTTATCTTTGATAAGATGTTATAAAAAGATGACCAAGAATGAAAGCTCTGCAGATACGAACTGCACAATTTACTATCTGTATATTTATTTCCTAAAGATAGGAAATAAACCTGTTAGGTTACTGATGGAATTTCCCCAAAATCATAAAACAAAATGTAAATGAAATCAGGATCTGGATAATTTCAGGGAAAAGGCCCACTTTTCATACACTTTACATGGATGGGCTTGCAAGAATGCTTCTTTACCTGGATTGAGGCTTCAGTTGTCTCTCTTCTTTCCATGAGAGGCAAAACCAGGATAAACTCCATGGTGATTTTTCTCCAGCTTCTTTCATGCACTCTAGGACACACTTTAGACCAGAAGTTAGCAAATTATGGCCTAGGTGGCCAAATCCAGTCCACCAAGTGTTTTTGTAAATAAGTTATTTTAGAAAACATGCCCATCCATTTGACGCCTTCAATGTGTGCTACATCAGCAGAAGTGAGTAGTTGCCTGGCCCTTTACAGAAAGTTTGCCAACTTCTGCCTTCAACTTTTCAAAGTACTCTCCCAGACATCATCTTATTCGGTCTTCATTGAAGCCTACTGAGTTAGGTTAGAGGTTCCGAAACTGCCTTGGTTCACAGCACGTTAGTATCTCAGGAAATTTTTCACAGAGCCCCTGGCCAAAAGAAATAATACCCAAGGCTCTCTTTTTAAATAGATCAAAACACTTTAATAAGTATTTATGCCTTAACAATGTAGCACCTATGGGGCACGGCACCGCCTCTCAAATCTTGGGATCAGATTGGAGACCACTAACCTAGTTTCTGTTTCACATGAAGTTCCTTGGTGTTTGCTTTTTATCAGGGTACTTTGAAAAACAGCTTTGCAAAGTGGTCACGTCATCACAAGAGATGTGGTAATCTGATGTTGGAAGCCTGAAGTGCTTCAAGCTTCAAGTTTACCTGGTGTCTCATGGATATCCTGGGATTGCATTTGAAAATGTACAACCTCCCCCAGGCACTCTTTGCGAATTTGCAGTGGCCTTCCAGGGCACCTAACAGGTAGTGTGGGAGCCAGAGTTAGATCTGAAGGTCCCCGGGTTACAGATGAGGAAGGATCAGAGAGGGAAATTGACTTTCCCTCTTTACACAGCTCAGATAGCCTTCCCCTTCCACGAAGCTGTCCTCCCTGAGATTGCAGTGTGCCTGCCCCGGAGAACAATTTAGCTTGTTCCCAGGGTGCATCAGTTTTAGTCTTGCCTCACGTTGAACTCGACTGCTTGTCATACGCAAGCACTGCTTGCCTGCTAAAATCATCTGGGAGGCAGTGGAGGCTGCTACCCCCAGGACCAATGAAGCAGGGCTTGTATTGTAGGATCTTACTGCTGTTGGGATCAGCCCGTGTCCGCCTCAGGGCTGCTCTTAACGTTCTGTTGTCTCCCCAGACCAGAGTCATCCTTCTGAACTGGTGCGCGTGGTTCCTGCGAATGAAGAGGCCCGGGGAGGACAAGGTGCGCCCGGCCTGCCAGCACAAGCAGCGGCGCTGCAGCCTGGCCAGTGTGGAGATGAGCGCCGTGGCGCCGCCGCCCGCCAGCAACGGGAACCTGCTGTACATCGGCTTCCGCGGCCTGGACGGCGTGCACTGTGTCCCGACCCCCGACTCTGGGGTAGTGTGTGGCCGCATGGCCTGCTCCCCCACGCACGATGAGCACCTCCTGCACGGCGGGCAACCCCCCGAGGGGGACCCGGACTTGGCCAAGATCCTGGAGGAGGTCCGCTACATTGCCAACCGCTTCCGCTGCCAGGACGAAAGCGAGGCGGTCTGCAGCGAGTGGAAGTTCGCCGCCTGTGTGGTGGACCGCCTGTGCCTCATGGCCTTCTCGGTCTTCACCATCATCTGCACCATCGGCATCCTGATGTCGGCTCCCAACTTCGTGGAGGCCGTGTCCAAAGACTTTGCGTAACCACGCCTGGTTCTGTACATGTGGAAAACTCACAGATGGGCAAGGCCTTTGGCTTGGCGAGATTTGGGGGTGCTAATCCAGGACAGCATTACACGCCACAACTCCAGTGTTCCCTTCTGGCTGTCAGTCGTGTTGCTTACGGTTTCTTTGTTACTTTAGGTAGTAGAATCTCAGCACTTTGTTTCATATTCTCAGATGGGCTGATAGATATCCTTGGCACATCCGTACCATCGGTCAGCAGGGCCACTGAGTAGTCATTTTGCCCATTAGCCCACTGCCTGGAAAGCCCTTCGGAGAGCTCCCCATGGCTCCTCACCACCGAGACAGTTGGTTTTGCATGTCTGCATGAAGGTCTACCTGAAAATTCAACATTTGCTTTTTGCTTGTGTACAAACCCAGATTGAAGCTAAAATAAACCAGACTCACTAAATCCTTTCCAATAATTGACTGGTGGAAGGAAAACAAAAAACAAAAACTAAAAACCTCTTAGCTTTTCTGCAATTCAACTTTTTATTTTTATTTTTATTTCTATCAAAGACGGTAGAGAGAAACAGCTTGATGCTGTTTCTACATTAAAAAAAAAAAAAAAAGACAGACTGTTGGTCTTACTAAGGATGTTTTTACCAGCCTGCCTGACTTCTGCAAACCTACCCTGTCAAGGAGATCAAAGGGACGCAGGTTTCTGTTTATTCTGAACAAGGGCCAGGCCCCGCGGAGTGTCTTTGGTGGATCCCAGATAACTCCTAGGTGCTGCTCTCAGACACTGAGGAGTTGAGCAAATCTGTTCTATTCTGCAGAACCCACAGGACAAATAAGAGTTCTACTAGAATTAACAGCCCAAAAGAATAGCTACAGCTAAGTGAAGCCACTTACGTGGGCTTTAAAAAAATAATGTGTTAGCTGATTCACATGCACTGGAGTTAATTAGTCTTAGAAATGTGTGCATCCATACAAATGCACAACATAAAGTGAACATATTCCTAGGCCCTTTCTGCCTGTGTCAGGGCCAGGAAGTAGAGGCTGGGAACTCTTCTGGTCCCCAGTATGGCAGGCGCCAGGGAGGGGATGGTGTGGCCCATCCCTTCTCTGGATACCTGGCCAGTGGCAGGCAGCAGGGAGGAGCTGGCCGACCCTCAGTGACTGACAAGCCAGCAATTCTGAGTTCTGGCCTTTGGGAGTCTGCCTGCTCCAAGCCAGTCCACCCCAGCTGCAGCCCCAAAAGCTGGCTCAAAGTCCTTGGGTGGATTCACTGGAGATGGGCAACTTAAAACAAGAGAAACTTTAATTTTTAAACCTAAGTGATGATACAGCTCTTCCCTTAGATTATCGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAAGCTCCACCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCCCCGAGTAACTGGGAATACAGGCGCCCGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATAGGGTTTCATCATGTTAGCCAGGATGGTCTCATTCTTATTCTTTAATGAGATCAGAGGGTAATTCACCAAGAAAGACCTCTCCTGTTCCATTGTGTCATCCAACAACTGCTCAGAGCTCAAAATTATAGAAGGCTTCTGAGCCCCTAGAGATTTTTAATTTGCTTCTAATCCCTGAGGTGGGAACATCATGAGGGAAGATTTGATTTTCAGAGTTAAATAAATTGTATGTGCTTTTCCAGCCATCTGGCTCACTCATTTCTGGGTAATGCACATGACTTTGTTTGCACTGGAGGAAGATGGAAGCTTGCGTGTGTGCGGTGTGTGTGTGTGTGTAAGTGTGAGGTACCTTGTGTGTGACAAGAGACCTCACTTACGAGAAAGTTGGTGGATCAGGACATTCCAGCCTCAGGCGGCTTGGAGCAGGATCATTCCTCAGCAGGCATTCCTTCCACATGCTATGGATGAACCATGCACAAGATTTTCGGTTTTTTTTTTTTTTTCTGTTACAGTGTCTTTAGAAACAAGTAGAAGTGTTTTGATATATAAAAGGAATGCTTCATTTCTTATCATTATCCCAAAATTGATCCCTCCCACATTTTTGCTTTAAAAAGAAACCTTTTTGGTTTTGTATTTTATACAGGAACACAAAATGCAAACAAGTTGTGCATATTTTGGACTCTCAAATAACTTCTCTGTCCTTTAATAAAGTAATAATAAGGAATAGATGTGCACATAGTTAGAAAAGTATGAGTGGTTAAAAACAACAGTCTCCCATACTGCCTGTTTTCTCTCTCAGAGGGGACCACTAATGAGCTTCTAAGGGCATTTCTAGAAAGGAAGAAAAGAAGATAAGAGGCCAAAGAAGGAGGGACGGGGGTTATGGAGAGAGACCTTCCCTTTCCAGCACTAACGCTCTGTGAAGGGCGCTGCACCTTGCATTCTTCATGTGGTGTTTTGTCTTAGAGGTCGTCCCATAATAACATATAAAGATCTACCTCATTCCTCCTAGTAGCTGCTTAGCATTCCATTATCTCAGCGGACTATCATTTATTTGAATAGCCTTTTATTGGTGAACATATGGATACTTCCAGTTTTTATTTTTATATACAAATCTATAATTGGCATACTTGTACATACATCTTGACATAGTTTTGTGACTAAAACGGTATAAATTCCAACTTAGAAATGGAATTGCTGGGTTTAAGGCTACATGTATTTAAAATTTTGATAGCTATTGCCAGATTATCTTCTAGAAACTGATCGAAGGATGTAACTCCATCAAGAGTACAATAAAAGGCCCAATTTCTCAGCTTTCTATAATAGCACTGGGTATTTTCAAACTTAATGTTTTTCCCAATATAATTGGTGAAACATGATATTTACGAATATTATTCTGATTTTGGTTTATTTTGTGTATAAAATGGGACATCTTTTAAAATTTTTTTGTAGTTTTAATTTTGATACATTTATATATTTTACCCAGTTCCTAATTGGGTTATTTGGCTTTTTCTTAATTTGCTCATGCACTTTGGGACATTTTTGTCTTATGTCTTTAAAATATTTTTATCATTTGTCTTTCGATGTTATTTATTGATTTCCTTATTTATTGGCATAGAGTTTAAATTTTTATGTTGTCAATTTGTGAGTATTTTTCTTTGTCGATCGTGGGATTTGTTTCCAGTTTTTAAAAGCCTTCCTCATTCTGAGATTATAAATAGACTTACTCGCATTTTCTTCTGAAACTTTATGGTTTTATTGGTTTACCTTCACATCTTCAGACTCCCTGGAATTCATTTGTTGCAGGACATGAGGGAAAAATCCATACTTTTTCCTCGAAATGGTGGTCAGCAGTATCAATAAATATGTAATAATGCATTTCTAAAATACAGTCATAGTGTTTTCCCCAGTTGTTCAAAATGCAGCCTTATTTGTAAACTAAATTTCTTTAAGTGTTTGGTTCTGTTTCTGTTCTATTTATCTCTATGAATGCCTTTCATTTCTAAAGCATTATTCATACTAATATCAGTATTTTCAAGTCAACACTCCCATCAACTCTGAATCTCTCTCTCATATGAATCTTTTTTCAATTAGAGTCACAATGAATTTACAGATTGAGTCTTCCTATTCAAAAGCATGAAATCTTGTGTTTAAGTCTAATTTTATGTAACTTAGTAGTGTTTTATGATTTTGTTCACTAAGGTGCTTTGAATTTATAGTTTATTTCTAGATGTTTTATCATTTGGCTATCATTTTCAATAGAATGATTTATTCCACTTTATTTTCTATTTTATCCCATTGTATAAGAAAGTAGTTGGTTTTTATGTATGAATGTTATAATCAACCACAAATTGTGATTCCTACTTGTTTCTAAGGTATACTTTTGACTTCTCCTTTCCAATGTGTCTCTTATTTCTTTCTTGTATCTAGTTGATTTGAGATCAGTGTTGAGTCACAGTGATTCAGGTGGCATGCTTATCTTGTTCGTGACATCAGTGGGACGTTTTAATGTCTCAGCGTTTAACTTGTATGAAGACATGTATTTTCCTTGCCATAATAAAAAAGTATCTGTGTGTTCTCAAACTATTAAGACTCTCTGGGGAAAATGTAGATGTTAGATTTTTGTCAAAGCCTTCTCAGTGTCCAGAGGGATTATCAGAAGGTCTTTTCCTTTGCTCTAGTAGTATGTTTAATTATATTAATAGAATACTTAAGACCAAATCATTAGTGTATTCCTGAGATGTTCTTTACTTATTAGTATCATGACTTTGGTTATCAATATTTATAATTAAGATTCATCATTCTACATCTTGCTTTTATGTGTTTTTTGTCCAGATTTAACTTTATGCTGACTTAAAGGAAGAAATATTATAAAACAAAAACCTCTATATTCTACAATCATCTATTGGTTTTGGATTATTTTCTGCTTAAGTGTAGAAGAACTAGCTGGGGCTGTCTGGGCCTGCCGTGGTATATTTCTGGATTTTGCTCATCAGGCAAGTTAGGTCCTCGAGCCCTTCTAGAGTCCATTTTAATGACACTTTTAAAAATAAAATTAATTCCATCCACTTTTCAACATAGTTGCGTAGTTTTGTAATATATGCACTTCAGGTGTTTTCTTTCCTCTGTATTTGTGGCTTTTTCTCCTTTTTCCGTTTGTAATTGTGTGCATTTCTCCTTTCTCCCGTGCCTATTGATTTAGCTTGCCATGAGTTTTACCGGTTTATATTTTTAAGACATCGGACCCTTAGACTTTGCAGTCCGAGGACCTGTCTGCAGGGTCTTGGGGGTCCCTGCGTTGACCCAGCCCTCCCAGGTGACAGCAGTGGGCCAGCACAGCAGAAGCCACAGTTGTTGCAGGTGCTTCTCCAGCCAGTGCTGGGCCCAACACACGGTTCAGCCCTTCCTCTGGGCCCTGGGAGCCTGTGGGACAAACTAGTCGGGGCAGCATGGTGGGTTAGATGTAGCTGGTCATTGCACTCACGGGGACCCCAGTGAGTTGGAGAAAAGACTGACAGAAGCTTTAAGCAGAGCCCCCTGGAGGTGTACGCCTCAGGAAGGAACTCTTACATAATTTAACTTTTTCTCATTCCTTCATTTTTTATGTGGTACAAACCCTTCCCAACCTCCCTAGACCTTCCGTCTATCAGTGTTTCTGACCTCACCATGGATAGCTCCTTTTGTAATTACTGTTTACTTCATATGCGTTTGACCTTCTAATGCCATAGCTTGTCCTGAGTTGGGGAAGGGGTCTCAAAGTTATGGCCCCTGGGGATGCGGCCCACAGATTCTATCTTTCTCAAACTCTTTGTGACGAGACGCCCCCTGTGTTTGCACACAGCCCGCTTCGGGAATGCCACCTTTCTGCAGCGCTGCAGTTCCACACTCTTTCTTGTCTTCTCTCCACCGTCACGTGTAACATTTTGCACTGCTTTCTAAATTTCCTTTTTTTCTGCCAATGGCCTTCCTACCATTTCCTCTGCTGCTGTGTTAGAGTTCTGTGTGTTCACCTTTGATAAATACTTCCCATCAACAAATTCTGCAGGTATGTTTTCTAATTTTTAGTTTTCTGCTTTTATCTTTAATATTTTCATTCTATTTTACTTTTTAAAAATTATTGTATATTTTTAAATTTTCGTAAAATATACATAACATAAAATTTATCATTTTAACCAGTTTTAAGTGTACCATTCAGTGTCATTAAATACAGTCACATTGTTGTACAGTCTTCACAACCACATATTCCCAGAACTCTTTTCATCTTCCCAAATTGAAACCCTGTCTCTATCAAACATCAACCACTCTTGTTTTGGTCCTTTTTTTTTTTTTTTCTTTTTTTGAGACAGAGTCTCATTTTATCACCCAGGCTAGAGTGCAGTGGTGCAATCTCTGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCATGCCTCGGCCTCCAGAGTTGCTGGGATTACCAGAGCACACCACCAATCCCAGCTAATTTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCCTCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCACACCTGGCCTCCTTTTGGTCTTTATAAATTTGGCTAGGTACCTGATACAAGTGGATTCATATAGTATTTGTCCTTTTGTGACTGACTTATTTCACATTACATGAAATAAGATATCCTCAGGATTCAGCCATGATCCTTTTACTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAAGTCTCGCACTGTCGCCCAGGCTGGAGTGCAATGGCGTCATCTTGGCTCACTGCAACCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACTACCACTCCCGGTTAATTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGTTGCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGTTGATCTACCCGCCTCAGCCTCCCAAAGTGCTGGGACTACCAGCGTGAGCCACCGCGCCCAGCCAGTTCTCTTCTACTTTTATTTTGTTGTTGTTGTTCTAAGTTATTCAATAGATGCCTAATTCATGTGTTTCCAATTATTCTTATTTAATCAGATAAGTATTTTTGGCTCTGCATTTTATTCTGATCAAAGCTTTAACAGCAGTCCATACGTCTTAATATGCAATGTTTTCATTTGTATTTTCTGGATATTCTATAAGTTGAATTGTTGTACCTTCTTCAAGCTGACTTTTTAAATAAAGGCTAGTGAAGTGAAGCAGCAGTGGAAATGGAAAAGGAGCAAAGAAACCTGTAACTGCTTGTAATCAATTCCTTGTACACCCCACTGCACTCAGACCAGCCCGAACTGAGCTTTGTTGAGTGTTTTAAAATTTCCACATTTTTTAACTTAAAAATTAATTTCTAGTTACATTACCTTATGCTTTAAGCAAAATGCCTTTTGTTCTATTTCTAATATTTATAATGTGCTGAGGTGTTTCTGAGGGGTTTGTATGATCAGTGCCTGTGAATGGGTCCCTCTCTGAGAATGACCTGGGCGGGTCTGTGGGAGTTCCACCCCTGGCTTTGCTCACTGGCCTGGCTGGGGCCACGCTCCCTGTCAGCAGCATTCCTCTTTCAATCATCCTTCCATTTACCACAGGATGTTTAACGATTTACCGGATTTTCATTCTATTTTCAATACTTAACCTTGAATTCACATTTGTCTGCTTTTAAAATCAGCCCCACTGATTTCTTATGCTGAGATGCCTCTCTCGTTCATTCTTACACTCACACAACACCTCCCGTCTCCACATGTGTGGGGAAAAATCCCACCCATTCTCCAGCACCAGCTGGGTGTCCTACCGTTCAGCTCAACTCTGACACTAACTGGAGTTAGAGCCAGCCCCACAGGGGAGGGGCTCAATTCCCAGGACTGCCCTGCTCCAGATGCCAGTTGTAAGTGGTGGGTCTGCAGGTCACCCACAGCTTCTGTCCAACTTGGCTATAAATCGGAGGTTCCCACGCCCCCCTTCTTAGGTCCAGTCATTTGGTGGAACAGCGCAGAGAACCCAGGGCAACACTACTATGTTTATCCACTTATTATAAAGAATACAGCCAAATGGGAGAGAAATACAGGAAAAGATATGGTGGGGGTGGGTATGGAGCTGCCATGGCCTCTCCAGGAGCACCACCACGTGTTCCCCAACCCTGAAGCTCCCGCACCTGTACTTAGGAATTTTTAAGGAGGCTTCATCATGTAGGCATGATTGATTATTGATTCAATCTCCAACTCCTCTTTCCTCCCTAGAGGATGGGGTGTGGGGCTGAAAGTTCCAAGCTTCTAACCATGGCTTGGTCTTTCTGGTGACCAGCCCTCATCTAGGATTCCACCAAGAGTCGTTCATTAGAACAAAAGATGCTCCTATCACCCAGGAAATTCCAAGGGATTGGAAGCTCTGTACCAGGAACCCAGTCAAAGATGCTCCCAACCAATATTAGAACAAAAGATGCTCCCAGTACCCCCATCACTCAGGAAATTACAAGGGTATTAGGAGCTCTGTGTCAGAAACTGGAGACACAGACCAATATGTATTTCTTATTATTTTATACTCAATTTTATGTTTAACCTTTTTGAGGCACTTTGTTTTAGGTTTATTTATCTTGGATCTGCACTTATATTTTTAATACATATTGCTGATATATTTGGTTTAATATTTTTTTCAATATCTGTAATTAATATTTCTTTTGCATTCCCTTTTGGATTTTTTTATTTCCCCCTCCTTCTGATTATGTGCAATCCTTTTGTTAAAATGAAAGATTTATTGCTTTTATGTGTTTAAGTGGTTACCTATATAATTTTACATAATTCAACCTATAGTTCATGATTTATCAACCTGACAGTTTCTATTAATTCTCCACTTCTCACTTCAAACCCCAATATATTATTAGTTATCTTTTTGTTTTTAGGTTTTCTGCAGGTTCCTTATACAACACTCTGTGATATGCTTTAATATTTATCAATTCAGAAGAGTATCTGTTGACTACTATTGAGAGAAAATTGAAAGATGTTTAATAGGATGGGCAATTCATTCATTTTGTGGTAATCTTCCCTTTTACCTAATTTTCATAGTGCAATTATCTTTGTTATTTTTACAAATTCATGAGTTATAACATTTACTTTCTGAAATTAATTTCCTACCATCACATACATGGTATATTTATTTATGCAAAATGAATTTTCCTTCTTTTTCCTCATTTTGGCTTGAATATGCAATGATGTGTTTTATTCCTCTTATTCCCTTTGGAGATCTGAAATTCTTCCTCTATGATGGTAGCTTTGTTATTTTTGGCATTGTCTATTCTGTTTCCTGCTATTTACAGTTCGGGTAGGTTTTTTTTTTTTTCTTCCCGTTCTGAAATGAGTTTTTGCTCTTCAATTTGTTTCCAAAACTCTGCAATTTACCTTTCATTTTGCTTTTCTATCTTTTAGCTCTTTTTTATTGAAATCGATTTCTTACTAACTTCTTACACAACATTTTGGAGAACTTTCTTGCATGGATTCAGTTATATATTTTGCTGCAGAATGAAATCTTTGTCTTTCTTTACAGACCATGGTCCACCCTGTGTTCACTGTTCCCCTGCAGTGCATTTGCAGGAATGCCTTGCCATTTATTTCACTCTTACTTTTGCTTAATTTGGGCAGCTCCATGTGGATCTTTAAATTCCTCTGAAAAAGCAGGTCTCAGCCCCTTTCAGACTCTGTGCTCCCCCTTCTTCCTGCTTTCCTGGCCTGGGGTTCTGAGAGGAAGGCCAGCCCCTAGGATGGACAGCCTGGGCGTTTTTGTCTTTACTTTGTTGCTGTTGATGTTGGTCTGTTGGTGCTCCAATACATCTTAGGCATTACCCTGGAAGGAGATCTATATCATTATTTATTGCTCTAATTCATGAAATTCTGGGTCTTTGGGGTGAGTGAACTCTTATTCAGCTTTCTCAGTTAGCCGCGTACTCCCGGTGAAATTTCCCAACCTCTCTCCTTACACCCTTCAACCTCCAGTCAGGACAGATAAAATGTCCATGGATTTGGCTGTTAGGGCTGGTAGTTGGAGGGCTGGTGGGAGCAGGAATTTGGTTATAGTCACATCCCCTTTCCTTCCTGCCCATAGGGAAGACACCTGAAGACCTCCTGCCTGTGACTTTCCTGCATCTGCTGAGATCCTTGGTGGGAGGCGGGACTTCTGCACTCATGGGCTCTCTTAAAACTTTTTCCCTCCAACTTACAACTTCCCTTCTCAATGAGCCTCACTCGAGACTGGCAGCGTAGGGTGGGGAGAGGGATCCGCTATTTGGGTTGGAGGGACACGCGGGGTGGGTCGCACTGATTCAGAGTCTGTCCTTTGCAGGCCCACACCACCTTCTTCTCTGTGTCCTCCTGGCTGCAGCGCTTTGAAGAGTGTGGCAGGAGGCTCCATCATTCTGTGTTGCTGCTGCTGTTTGCTATTGTTGCTTTTTTGGGCAGCGATATCTCTGATCCTGCCTTCCTCCACTCGCAACGCGTTGATAGTCACTGACCACATATTCAGGGCAATGGGTAACAATGGAGAGAGAGTGTGTTATGTCTCAGCACCAAGGCTGCTGGTAAATTATATTCCCAGTAATTTTAGAAGATTGTGGCAGATGCTTTTCACTTCATGTTGAAGCTATTCATCTTTACATTGAAGGACCTTATGAAGCTACAGAGTTTAATCTTTTTCCAACTATATTTGCCCCCTTTTCTTTCTGTGGTAAATGAAAACGGCCAAGAATTCGCCATTTAGTATCTTTGTATTAATATGAATAGTGTAATTGTTTTTCAAACACATTATTTTAAGCTGTCATTTAAGATAAAGATAGTCTTGGTGAAATCAATATGTCAGGGTTAAAGTGAGTATGTTTTTCTCCTACACATTTTGGTAATTACCATACAGTCACCCCCATCTGTGGCGTTACTTTCTTTTCTTTTTTTTTAGACAGAGTCTTGCTCCGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTCCCAAGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCAGCTAATTTTTATATTTTTAGTAGAGCTGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCTGCCCAGCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACATGTCCTGTGGTGTTTCTTTCTGTGGCTTCAGTTATCTGTGGTCAACCACAGTCAGAAAATAGGCGAAGACAATAAGATGTTTTGTGACAGAGACCACATTCACATAACTTTCATTACAGCATATGGTTATGATTGTCCTATTTTATTGCTAGTAAGTGCTGTTAGTTTCTTACTGTGCCTAATTTATACATTAAATTTTATCATAGGTATGTATATATCAGAGAAAAAACATATGTAGGGTTCACTACTACCCAAGGTTTCAAGCATCTACTGTGGGTCTTGGAACATATCCCTGTGGATAAGAAGGCACTACATTACAATATAGACTTCTGTTGTACTTTTCAAACATCATAATGCTCAAGAAATTACCATCCACTTGGAATTAGAATTTGCTGCAGTCCCAGCCATACTTCAGCATGCCCCCTGTGCCCTGGTCAACCTTGTTGGTTCTCTGGCTCCCGTGTGACCATATTAAACCCCCGCCAGCATCCTCATTGCCAAGCCCCAGGTGGTGTCTGGAGAGGGACGTGGGCTTAGTCACTTAAAAACACAGTGCCTCAAATCCTTTGTGGAAAAGACAAGTTCATGCTATTCAATTAGATTCAGAATTTCCAAATATACAGAAGCTCAGAGCTCGTCTATGGCATCAGGTTCCAAGCTTTTTTTTTTTTAAAGGTTAGTTCAAGTACAAAAGATAAGAGTATTTGTTCCAGAGACAGGTCTGGGGGACTTTGGTGTCTGGCCTTAAAGAGAAATTGTGAAGGAGTCATTTTGAAAATGGTGTTGGTGTGTACTGGGGCCTCAGCCAAAGAGACTTGGGCTCAGGAGGCAGTGGGTCAGCCAGGCAGATGGGGGCTCATCCGCGTGTCTGTGACTGGGGGAGACAGGGACCCTGCCATCAGGAGGGAGCAGGAGTGGCAGCAGTGGGGGCCAGCAGTAGGTGTTTGTTCCAGGTTCCCTGAGCTCTCCTGAGATTCTTCCAGACTCCTGGAAATAACTGGGCAGAGGAGAGCCAAAGCCAACTGGCTGAGGTCAACCCACAGCTGCAATTCAGATTCACATGGATGTGATCCCATTGAACTGCAGGCTGAGATTCAGTCCATTCACCTGAGACATGTGAGACCCCGTTGTGGTCTGAATTAAGATTCTTCAAATTTATATGTTGAAGCCCAACCACCGTACCTCAGACTGTGATCTTATTTGGAGAGGGCCTTTAAAGAGGTAATTGAGTTAAAATCAGGCCATGAGGGTGAACCTTAATCCATTCTGACTGGTGTCCTTATAAGAAGATGAGGTTAGGATACAGACACAGTCAGAGGGGTGATCGTCTGAGGCACAGGGAAGACAGCCATCTACAAGCCGAAGAGAGAGGCTGCAGGAGAAGCCAGCCTTGCCCACCTTGATCTTGGACTTCCAGCCTCCAGCACTGTGAGGAAATGCACGTCTGTGTTTAAGCCCCCAGGCTGTGGTTCTTTGTTGTGGCAGCCCCAGCCTCCAAGGCAGGCATCTGTCAGGTGCTGTCCCCTCTGCCAGACACAGGGGGTGCAGTCATGAGAAAGCTTATCTTAGCTGGAAGGAGCTCGTTCTTAGGAAGGGAATTAGGTAAAAAGAGAGTAAGGGCCACACAGGGAGGGATCCCAGCCTTAGACAATCATGGGAGACTTCCTAGAGTTGGTGGCGCCTCAGGTAAAATCAGATGAGGGGATTGAGGCCCACCCCAGCGACTTGCCCAGCCTCACACAAATAGCTGTTTGAACTGAGACTAGGAACTCAACATCCTGAGGCTGCTTTCGTTAACCTCAAACTTACTTTGTCCATTCTTCTTTGTAAATGGCAGGGAATGGAGAATGGCACCCTGTGTTTTGGTGTCTGCAGTGGAAGGGGGTGTAGACCCCTCTGGCTGGCTTGATTCAAAGTATCGGTTCCGTCACTGGTATGTGCTGTCCTCTGTTGCTATGAAAATTTATGGCTAAAACCATCTTGCTTTGAAAGGTTAACTTTTTTTTTTTTTGAATTGGAGTTTGGCTCTTGTTGTCCAGGCTGGAGTGCAATGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCTGGGTTCCAGCGATTCTCCTGCCTCAGCCTCCAAAGCAGCTGGGATTACAGGCATGAGCCACCACACCCAACAACTCTTTAATACCATGATTCCTGGGACACTAGTGGTCCCTAAAACTGCTTTTACTTGGGGCATGGGCAGGGCATGGGCTGAGAAGGAACATCCCCCGGGCCTTGCAGTCACAGTTTCCCATGGGATGTTTTAGCGCGGTTAAGCGCTGTTTAGCGTGTTAAGGCACTGCAGCAAGAATAAGCATGCTGGGTCCTGATTCTGAAAACCTCTCTTTAAGGCACTCAGGCCTTGCGGTTCTGTTTTCTCTACACTCTCTGTGGTGCCTCTAGTACCGTGATTAAAAACAGTGGCCCCACAAACACGACCTCACCTTCAAATCCAACTCTGCCCCCTGCCGACTGACCTCCAGCACACTGCTCACGTTATCCAAACTCGGGTGTCCCCACGTTAAAGGAGTGACTATAGTACTACCTGCCAAGACACTGTCGCAAGGACAGCCCAGAACACAAGACGCACTCGAAAATGTCAGCTAAGTTTATTTTCCGCAGGATCAAACCTCACTCCTCCCACATAGGAGATGCCATCTTCTTGTTTTAAAGGCTTTATGACAAACAGGCATTCCTTTGAAGTTTAACAAATTCCTCCTGCCACCATGACAATGACGTCTAGCAACACATTCTCTGGTGAGAAAAAGGAAAGTTTAGAAAGACATTGTCAGTTGTCTCTTCCTAAGTGATATTTACCAGGACCCAAATACCAAAAAGCACAGCTCAGAAACACAGGGGCTAGGCCGGGCACAGTGGCTCACGCCTGTAATCCCATCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTCCGAGACCAGCCTGGACAACACAGAAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGTGCATCCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAAGAGGCGGAGGTTGCTGTGAGCCAAGATTGTGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACCATGTCTCAAAAAATAAATAAATAAATACAGGGGCTTTGGCAGTGGGTCCAGGAGGCATCTGGTGAGGTCATTAGGGAGGGGTCATTACACATGGAAAGCAGCAGAGACCGTTTACTGAGTACATATTTGTTGAATGCTTTTAGGACATGAGATGAGAAGGGGGAGAAATACTCACGATGTGGAGCTGGAGGTGCGTGGGCAGCCGGTGAACAGTAATGGAACATTGACACAAGCCAGGTGGGACGAGTGTGGTGGGATGGCCTGCGAGAGGGGAGCAGAGGGGACAGGGCTGGGCAAGTACCCAGAGGCAGCCGCCTGGTGCACCTTGAGAGGTATGCATGAGAGGAACACCAGAGAGGGCCAGGGTGGGCAGGGTGGCGGTGGGCAGGAGGAGTGAGGGTGGGAGAAGGCACTGTCTGGGATGGGAGATGGGGGTCTTCGGGATTCCCTAGTGCTTTCCCTAAGAGCAGTAGGGGCGACTGAAGGCTCTGGGCCAGAGAGTGGTATAATTCAGTTGTTTTTAGATTCTGGAAAAAGAACTGGGAGCTACAGCATATTCTTTCCACTTCTGCCCTAAACTTTGTTGAGTCCCATATGCTGGGAGGCTGACCAGGTGTGGCAGTGGGAGCTGGATCTCCCTCCAGTCTTAAGGTGAGATGTAGGATGTGATTTATAGGTCAGATATGAGATGGAAAATGGCAGCCGACAGGACGTGGCTGATGAGGGAATAACCTGCTCAAAGCCTGGGACAGAAGGACTAGGAGGAAGAAATGTTGAAAGAGGGTTTCAAGGCATTTTCCAGGAGAGTATGATCTAAAGCATCTTCTCTATCTCCCCAGGTGAATGTTTGCTAGCGCTGCAGAGCCCCTCAGTCACTCAATCGGTGCAGACGGGTGGCAGAAACCACTGGAGTCATGTGAATGGGGACACTTTCCTATGAACAGTGGTTACACAGGCAAAGGCACCCGCCCCTAAAAGAAGTCAAAGACTTTTTGTCTGGAACCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACAGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCGCAGGACAGTGGGTGCAGTGCGCCGTGCGCGAGCCGAAGCAGGGCGAGGCATTGCCTCACTCAGGAAGCACAAGGGGTCAAGGAGTTCCCTTTCCTAGTCAAAGAAAGGGGTGACAGACAGCACCTGGAATATCGGGTCACTCCCACCCAAATACTGCGCTTTTCCGACGGGCTTAAAAAACGGCGCACCAGGAGATTATATCCTGCACCTGGCTTGGAGGGTCCTACGCCCACAGAGTCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAGTGAGGCTAGGGGAGGGGCGCCCGCCATTGCCCAGGCTCGCTTAGGTAAACAAAGCAGCCAGGAAGCTCCAATTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTGCCTCTGTAGGCTACACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAATGTCCCTGTCTGACAGCTTTGAGGACAGCAGTGGTTCTCCCAGCACACAGCTGGAGATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCAGACTGACACCTCACACGGCCGGGTACTCCTCTGAGACAAAACTTCCAGAGGAACGATCAGACAGCAGCATTCGCGGTTCACGAAAACCACTGTTCTGCAGACACCGCTGCTGATACCCAGGCAAACAGGGTCTGGAGTGGACCTCTAGCAAACTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAGCTAACAAACAGAAAGGACATCCACACCAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAGCAGAAAAACGGGAAACTCTAAAAAGCAGAGCACCTCTCCTCCTCCAAAGGATCGCAGTTCCTCACCAGCAATGGAACAAAGCTGGACAGAGAATGACTTTGACGAGTTGAGAGAAGAAAGCTTCAGACGATCAAACTACGAGCTACAGGAGGAAATTCAAACCGAAGGCAAAGAAGTTAAAAACTTTGAAAAAAATTTAGACGAATGTATAACTAGAATAACCAATACAGACAAGTGCTTAAAGGAGCAGATGGAGCTGAAAGCCAAGACTCGAGAATTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCAATCAACTGGAAGAAAGGGTATCAGCGATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAACAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGACGGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACACCACAAAGATACTCCTCGAGAAGAGCACCTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGCGAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACTGCAAGCCAGAAGAGAGTGCGGGCCAATATTCAACATTCTCAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAACAACTGTTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCCAGACTAGGAAGAAACTGCATCAACTAACGAGCAAAATAACCAGCTAACATCATAATGAGAGGATCAAATTCACACATAACAATATTAACTTTAAATGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGATCCATCAGTGTGTTGTATTCAGGAAACCCACCTCACATGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAGTGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACACAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTGAGTGACGTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTCCACCAAGCAGACCTAATAGACATCTACAAAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATATTTGGAAGTAAAGCTCTCTTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACAACATACCAGAATCTCTGGGATGCATTCAAAGCAGTATGTACAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAATGGACACCCTAACATCACAATTAAAAGAACTAGATAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAACATTAATGAATCCAGGAGCTGGTTTTTTGAAAGAATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAGCACCTCTACGCAATTAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGAGCTGAAATTGTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGATGAACTGATACCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACGGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACACAAATCAATAAATGTAATCCAGCATATAAACAGAACCAAAGACAAAAACCACAAGATTATCTCAATAGATGCAGAAAAGGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACATATCTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAGTTAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGATAACCCCATTGTCTCAGCCAAAAATCTCCTTAAGCTGATAAGCAACTTCAACAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCGCAATTGCTTCAAACAGAATAAAATACCTAGGAATCCACCTTACAAGGGACGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATGAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCCTGGGTAGGAAGAATCAATATCGTGAAAATGGCCACACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCAGAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCTGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCTATATGTAGAAAGCTGAAACTAGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGCATTAAAGACTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCACGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCCACAATATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTGGGCAAAGGACATGAACAGACAGTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACCAGTTCAGCCATTGTGGAAGTCAGTGTGGTGATTCCTCAGAGATCTAGAACTAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACTCGCACACATATGTTTATTGTGGCACTATTCACAATAGCAAAGACTTGGAACCAAGCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCACGTCCTTTGTAGAGACATGGATGAAACTGGAAATCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACTGCGTATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGGGGGAAGGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGCGCACCAGCATGTCACGTGTATACATATGTAACTAACCTGCACATTGTCACATGTACCCTAAAACTTAAAGTATAAAAAAAAAAAAAAAAAGAAGTCAAAGAGGGCTATCAGGTGTAACAGGCAACCATGTCAAGTGATTGCCAGCCCTGGGGCAGTGAGGAAAGGGCTGAGATTTTCCATTGTTTGATTTATTTCGAGAGAACCTGTCATTGCTGAAGCATTTTTAATGGCAGATACTTTAGAGCCCTTGTCAGATAATTCCAACATCTGATAGTTGGGTCTTGGCAGCAGCTGATCGTGGTGCTCATGCTGGTGGTGATCTCTGCACTCTTGGAAGGATGGTGAGTTTTCAGTTGTTTGGTGGACGTTCTGCCTGTCATGTTAGGTGACCTGGGTCCCCTGTGACTCTTTTGCTTTAGAAGGCAGTGACCTGTTTAGGTTTGGCACATGGGTCCTGGCCCATCTTGCAGGCTGTGGTTCTACTGGCATCTAATTTCCAGAGTCGCTGCTGTGTTGTTCTCTCCTGCTTGGTTTCTCGGGGGTCCTTGTGGCTCTCAGGATCCCTCCTGATGCAGGCTGAGGGGCAGACGGAGTTTCCCCAGGCTCTGCCCTGAGTGTCTCCCAGTGGGGCCCAAGGCTCAGGCTGTCTGAAGAAGAGGCTTGGATCCCCTGCAGGTGCCCACCAACCAGATATTTCTGGGTGGGGAGGAGGGGCTGTCAGTACACAAGGAGGGGAGCCACCCTGGGGCCACTTATGCGGACAGGGCTTCAGGTCCCTCCTCCGTCAGGTGGCGTCAGGCTGGCCTGGTATTGCCAGAGGGCCCTGTTCCATCAGAGCGGGAGCAAGCCTAGCTGGCTGCCATGGGTGCTAGGCTGGGGTCACCTTCTGTTGGTCTTGGGGCCATAAAGCACCCTGTTGCTGTGCCTTCCTTCTCCCCCTGGGGTCCCAAAACCAGCCCGCCTTCCTCTGAACACCTTTCGGAGTTCTGGTTGCCTCTGAGCCTGGTTTCTGGTTGTGCTTTGAGCAGCAGGGAGGGGCCTGCCCATCTAATTGGGACCAGCAGTGAGAGGGGGTTTCTGTGTCCCTGAGGAGAAGGATGCAGTGTGAGGGGAAGGTGGGCTGTCTGGAAATGCTTGTGGAATGAAGGAAGTGTTCAGGTACTGGAGAGATGCAGGTGCGGCTTGTGGATAGAGGCTGCCTAACTTAGGGAACTACCTCGCTGTAGGTGTGTTTGGGGAAAGTGAGTTTCCTGGATACTGATGGGGACAGACACAATCAGCCTCTTGTGGTCTCCCAGGATTTGGCTCAGTGGCTACAACACATCATTGCACACTTGAATACGGCGAGACCTGAATGCCTTTAGCCCAAGACCCTTTTATTACCTTTCCTTTATGCATCCTATAATTTGAACTATTGTCTCCACCAAATTATTCCTTCCCAGCATTTCTGGAGAAAGAAATGTAATGAAATATTATTCAGTAAAATCCCACAGTAAACAAGAACACACAGTGCTAACTTAGTCCTGGTGTTCATCAGTTATTATTGCTCTAAGAAGACAAAGGTGGCCCCTAATATGCAGGAGCTGGCCCGGTGCCCACAGCTGGGCCTTGGTCTCTCCTGATGAACATAAACAGTTCACTGAACAGGAACGGTCAGGGAAGCCACTTGGTGAGTGTGACGGAATAAGACAAGAACAAGACTGGCCAGGCGCGATGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAGGTCAGGCGATCGAGACCATCCTAGCTAACATGGTGAAACCCCGTCTCTACTAAAATTACAAAAAAATTAGTCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCATGCTACTGCACTCCAGCTTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAGAACAAGACCATTATGTCATTAGGTCTGAACACAGACAAGGCAAGAACATGGTTCAAACCATAAAAGTGACTTAATATCCCCCTCTCCCAGCTCATGCTAGTGAGTGCTGCTGCTTTATAGTTAAAAGCCTGCTGCCTGGCTCTGGTCTGCCTTCTTCCAGGTAAGATTAACCCACGCATCGCATAGCATCCCCTTCTTCCAAACACCAACCAAATCTGGAGCAAAGCCCCACTTCCTTGAACGCTCTCCCCAGATCACCCAACATGCCCCAGTTCTGTAATGAGTCCTGGCAAACCCCCTCTGCCTGAGACACCCCACAGTTCCCGCTGGTGTGCCCTGCGTGTAGTCTCTCTCCCTCCAACAAATAGTAAATCCAACTCGTTCAACTATAGGCCTGATCCTGAGGTCTTTGGCTGGAGGACGTTTTCACTTATAGGATTCATAGGCTAATTTCCAGAGCTCTTTTGAAATTGGTAAAATAGTTTACATTTTCCACCTTACCTGGCCACCAGGCTCCTGATGGCATAATGTCAGGATTAAACCTTAGGATTTAAAGTCTATGATTCTGGAACACTCAGGATTTTAACTTTCCAGCTCAGGACATCCTTGCATTTTTTTATGGTGTCTGGTTAAGACTAGCAGTGACTTCATGAAGGTGGAAATCATGCATTCTTCATTCATTAATCTGATGATTTCACTACTGACAAATGAAAATTACCCAGGCCTTTCAACTTCCCTTCCCAGCTCTCCTGCTGTTTGACCAAAAGACACACATTCTACTGATTTTCAATGACTATTTATCTGCATTGAAAGAACATTTTTCAGAAAACAGAAAGAGACATTATAATGGGTATTTACCACTGGTATGTTCATAGAACGGCCCCAAAATTGTTAACTTCACATGCATATTAGCATAAAACAAAATAATAAATAGGTAAAATTTACTTTAAATTTCTGTTTACAGATTTTTAACAAAATGGCACGGAAAGGGGCTTCCAAGCCAGAAAGCCTTGGCACATCAGGTGAGCCTTTGACACACTGCCTGAGCAGCCTACGGGCTGTCCCATCTGGAACTGGTGCTAGAGTTAGGGAAGCTTCAGGAAGAGACCGTGGGATCTACGCAGCTGTTCTGTTTTTCCTTCCTGAGAGTGTGAGGCCGGGAGGAGACATCATCTGAACGTGCACTTCCTTTCTTTCTTTCTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGCATAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAATGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTTCAGGTGCCCACCACCACGCCCAGCAAATTTTTTGTACTTTTAGTACAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCACCTCAGTCTCCCAAAGGTGTGAGCCACCACGCCCAGCCTGATTGTGCACTTTCTACAAGTGCAAGACCCGGCCCTCCTGGACTTCATGGTTGTGGTCTGTGCTCTTTGTATATCACAAATTTGAAGGCCTTTAGCCTAAGACCCTTTTATTACCTTTCCTTTATGCATCTTATAATTTGAAATATCATCTCCACCAAATTATTGTGTAATTATATAATTGCCACTTTAACTACTTCACACGTCAATAAATTTAAAAAGCCTTTAAGTGTGTATTTTTGATATGATAAAATTGTGATAGGGTTCTGGAAACTGTGTTCTTCAGATTTGGTGGAGGGGCTTGGGAAAAGGTAGGGCAATAGGTATTTTTTAAAAAGAAAGAAACTAAAAAACTTAAGTTGTTTATTTGAAATTCAAAATTGTCACTGCGTATCCAGTGTTATCTGCCCACCTGAGAGGAGGTAGAGTGGGAAGGTCATCACAAAAGAACCCGAAAAGCTGGGCAGGGGAAAGGGGTGTTCTGCATTAAGGAAGGCTTGCTCTGTAATAGGATCCAAAGTGTGTGATTCCTGACTGCCCTGCAAGTGGCTTGGAGGCTTTGGGCATCTCTCTTGGAAAATAGAAACTTCATGGATGGCTAAAAGAGACATGATAACAGTGTACATGGCAGAAGATCCTCTGCTGATGGGTTCTAGAGAGTCACTGATTCCTTAGGAAGATCTAGTTACAGGCAAGAGCCTTGAATAATCATGAGTCTGGGCCAGTCAAAGGAGGCAAATGCCCCACCTGGGAAAGGTGGCTCTCTCTAATCCAGGTGGTGTTCTGGAAGAAAAGGGAAATAAAAGGCCTGTGTCCTGCTTCTCCACCCGGAGGACTCTGCTCAGCCCTTAGGTCTTCTGAAGGGCTCTCCTGGAAGCCTACTGCAGCTGCAGGCCTGCAGCACCAGTTGCGGATAAGGGAAGATGGAGGTTGACAGAGGGGCCTGCCTCCTCTTACTTTCCCTGCCCTGGCCTGAGTCCTGTGGTTCGTGACTGTGCTGTCTTTAGTGGGAGCTTGCCAAGCCCAGCAGTGTCCTGGTGTGGATGAGAAATTACACACTCATCCTATTCTTAGCTCAGGGGCCTCTGTGCATTGAACTGGTTGCATCAGCTTCATTTTTACTGCAAAACCACCCTTTACAATAGGTCGGAAGTATGATTCTGGCAGACAAAGTGAGGACAAGAGGACAAATGGGGCCAAAAGGAAGCAAGGTTGGGATAGTGGGTGGAGTGACTTCTAGGGATTGGGAGGAAAGTCCCTACCCTTCCCTCCATGGGTCTCCTGACCTGAGCAGGCTCTGGGAGGACAGGGCTGCTCGAGCCACCCTGAGAACCTCCCAGGCTGAGAGGATTCCAGGACGCCCACTCTGGAGATACTGAGACCAGCTCTGGGGAACACGGTGCCAGCTTGAGTGCACCCTGGGCCTGCAGCATGGAGAAGAATTTAGCATCCCAAGCCCCCACCCCTGAGATGCTTCAGGTGGGGCAAAGTGGCTGCAGCAGCCTAAACTTTAGGTTGTCAGAGTGATACGGAGCTGCACAAGGCCAGGCACTGAGTGAGTGCCCTGAAAGTGCTGGTGGGGGAAATATGTGAGTTCAAACTACCCTTGAAATTTCAGATACTTGTCATCTGTAAATTATGAAAACGTGCTCCTTACTTTCTTAGCAATAGTGTTGCTTTTACATATACGTGCATTCCTCTCCTGTGGCTACTGTAAAAGTTACCACGAACTCGGTGGCTTCAAACAGTGGGAATGTATAGTTCTGGTGGTCAGAAGTCTAAACTGAGTCTTATGGGAACAAAACCGAGGTGTCTGCAGGGCAGGGCTGGTTCTAACTGAGGCTCTAGGGAGAATCGCTTCCTTGCCTTTTCAGCTTCCAGAGCCGCCTGCGTCCCGTGGCTCCTGGCCCCTTCCTTGCATCACATCACCTTCCCCCCGACTGTGTCATCACACTGCCTTTCCCTACTGTCATCAAGTCCCCTGTGCCTTTCTCTTATAGGAAAATTTATGATTACATTTAGGGCCCGCCTGGATGGCCCAAGATAATCTCCCCAACTCAAAGTTCTTAATCACATCTGCAGAATCCCTTTTGCCTTCCAAGTCACCATATCACAGGTTCCAGGGACCAGATGGTGGAGGTCCTGGGGGGACACTATTCAGTGGACCACACTGCCCTTTTCTCAGATTGAACTGGTGGCCTTGTCTGTCCCTCTTCCCCGACAGGTAAAGGGATTCAGGGTCTCTGCTCTTCACGACGTCATCCATAGAGAGTCTCTCTCATATACATCTAAGGTGATCTTCAAAATAACCCACGAACCAGGGATCATTTACAAATGGGAAACTGGGAAGAAAACTAACATTTACAGAGTTAAATAATTCAAATTTTAGTTAAACACTGCTATATACAGCCCCATTATTGCTTCATTTGACCCTCCTGCCATCTGGGAAGTATCTGTTTTTACTCCTATTTTGAAAGTAGAAAACCTGAAATAGTGAGGTCATGTAACTGATCTAACACTGCAGGTCTTGGAAATTAGAAAACCTGAAATTAGTGAGGTCATGTAATTGCTCTAAGACAGCAGAGCCAGAAGTAAAGGCACTGAAGTTTAAAGCAGACCTGTGATTTCCACCCCTTAGCTCTTCCCTGTCCCATTTTCCCCTGTCCATCACTCCCTCTGCACAGTCCTGCAATGGTCTGAGAATGGTGGCCAGTGCTGCAGGAGACCCATGGGTGTGCCTTTGGGGTGTGCATTGACAGTTTTCTTTGAATGCTTCTAGAACCACAAAATATCAGGGCAGAAAGGCATCTCAGAGAAAACCTACCCCAAATAACTTCTCAAACTTCAATGCACAGAACTATCTGGCTGCTTATAAAAAAACAAGAGTCTGTAAGCCCCATTCCCAGAAATTTTAATTTAATAGGTCTGCACTTGAGGCCCAGGCAGGTTTTTTTTGTTTGTTTGTTTGTTTGTTTTTTGTTTTTTGTTTTTTTTTTTTTGAGATGGAATCTTGCTCCATTGCCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGAAACCTCTGCCTCTAGGTTCAAGTGATTCTCCCACCTCAGCCCCCCGAGTAGCTGGGACTGTACAGGTGCATGCTACCATACCCGGCTAACTTTTTGTATTTTTAATACAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATTCACCCTCCCAAAGTGCTGGGATTACAGGTATGAGTTATCCGCCTGGCGCATCTACATTTTTAACATGCCCCAAAGCTAGTTTTGAAACAATTTAACAGGAAAGAAAGGGTGAGAGGGGTGCATTTGTCCTTTCTCACACTGCTGTAAACATATTACCTGAGACTGGGTAATTTATAAACGAAAGGGGTTTAATTGACTCACCGTTCCACATGGCTGGGGAGGCCTCAGGAAACTTACAATTATGCAGAAGGCAAAGGGGAAGTAAGCACCTTCTTCACAAGGCAGCAAGAGAGAGAGAGCACAGGGGAAACTGCCATTTTTAAAATCAGATCTCATGAGAACTCACTCACTATCACAAGAACAGCATTGGAAGTGATCCAATCACCTCCCTCCCTCGACACGTGGGGATTACGATTTGAGATGAGATTTGGGTGAGGACACAGAGTCAAACCATATCAAGGGGTAATACATTTTCTCTAGAATGTAGCATTAGCCTTTCTTTTTGAGGAACATGTTTGTGTGTTATGGAAGTTAATCACGGTGGGCCACATCATTGGAAAACAGCAAATACTGCTTTCTGGTTTTTGGCCGATTAGGTCAGGTGAAGAAGTTTGGCAATCTGGCTCTGATTTGTGTGAGAGATACCAGTGAAAGGTGGATTTCACATTGTGAGATGAAACATCTGGAGAGGACTAGAGTCTAACTTGTGCATCAGCTGGAAAGAAAGACTGAGGGGTCATGGGAACTTGCACATTACGATCCATGTAACTGCACTTGCCAGAATGTAGGATCAATCTGCTGCTGAAGAATATCCTAAATCAGAGAGTAGATAGGAACCAGAGGCCGTAAACTCACCAGAGATGTTAGTGCGGCCTTGAGGTTAACTGCTGCTTGGAACACAGAGACGTGATGCACTGAAACTAAATCTGGGCTGAGGGAAAGCATGTCCACACCAGGTGCCCAGACATCTGGTTGGCTTTGGCTGATTTGTCCTGCAGGCACCTGCCTTGTCTGGATTTGCACACTTTCCAAGTTGCCCATTACCCTGTGCATTTCCCAAGCTGCCTTCCCTGGCTCTGATGTACGATGAACCTGCTTGAGTGGCATATTTATCATAGTGCAATCAAGAGGCATGAGCCATGATTGATGACATATCATAAATGGGAATATGCATATCATCACACTGGGATCTGACTTAGCAGTTCATTTGGCCTTACTATAAGCTGATTTCTTGAAAGAGCTCAGATTCCTGGCTCAGAATGCCTTTGATAGAAGAGTGTGTTCTCAATGGAAGGGAAGCAATAGTTATAATTTTTTCTCAGTGGACCAGTTCTCAAGTGAAGGCAGAATTTTAACCAGTGTTCAGCGTCTTCCATTAAAATCCCCAGCTCTCCATTTTTCAGTGTGAAAAAATCCAGGCCAGGGTTTCTGCAGACAGTAATTTTTGATGGCAGGGTCAGCAAATTGGACTAAGTGTATGTACTGTGATCTCCATAAAAGGGAATTACTGAATTTTCTGTCCACTTAGCAGCGTCTTTTGTTAATGATGGGCAAGAAGCTTGTATTATTTATGGAGCACTTTGACATCTCAGCAGTTTATGGAGTATATATGAAGAATGGGAGCACTTTATCTTCTAATAAAATGTTGCATAACAACTTTAGTACTGAACTTTTTTAAAGAAGGAATCATGGATTATCCTGCAGCCAAGTATTAACAGAAAGGACATACTGTGATCTCACATTCAAACTACTTCAAAGATAAGGAGATTTATTTTGCCCATTACAATTTTCTCCCAGAGCAAATAACCATTTTTATTAAAATGCTGTAAGTTCATCCAGGTAGGATTTGGGTGAAGATAATTTGGGACAAGCCACTGTGTACTGGTAATGAAAACAGAAATGAATTCAAGCTTCTAATGGAAAAGTGACAAGCAAATAAATTAATCTCCAGGTTATTCAATTTTAGAAAGTGATATAAGATGTAAGATATAACTAAAAACTGAAAAGGAAAGTTAAAACAGTCTCCAGGTTTCCATATGGATGATTTGTAATTAAAATGATACTGGAGGGGAGTCCAGGACACATCTGAATATCGAGCTTTGCCCACAACCTTTCTGATTGCTGTTTCTTAGGTGTTTACTGCAGTGCTTCTTTCTCCATTTCTGCATAAGTGTGGACAAAATTCACATGTGCCTATTACTAGTATAAAGGGCACACACGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCTGAGGAGGGGGGATCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACTCTGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCCCGGCATGGTGGCAGGCGCCTGTAGTCCTAGCTACTCAAGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCGCCATCGCACTCCAGCCTGGGCGACACAGTGAGACTCTGTCTCAAAAAATATAAATAAATAAAATAAAATAATAAAGGGCACACACTGTGCTTGCTGCCTGAGACTGGCCAAGGGGTCTCTTAGTTTTGTCTGTTACTTAAATTATCAACTCCACCTAACTACAGGAAACACAGAAATGGTGTGTTGCAGTCCGGACACTGTGAGCAGCATGAAATTCTATCTCGGTGTCTAGGAAATGGGGTAGGGAAGGGCCAGTCCAGGGCACAGGTAAGAATAGACTTTTGCCTCTGAGCTCTCCCACCTTTCTCTTTCTCCTTATGAGTTGCTCTTTACCCTAGGATTTCCAGACACTCATGCTATTCTTTAGTCCTAAAAATTCCTCCTCAAAGTCTTGCTTTTCTCAAAATGCCTTATGCCCCATAGTTACCATGTGAGCTTCCTCCCACGTCCTTGGTCCCGCTTCCCTCCTGTGGGCAGCTTAGTCAGTGTGCCCTTCCCTCCACACGCCCAGAGGGCTGGCTCCTGCAGGCAGCACCTTTGCAATGGCCTCCAAAACAGACTTGAGACAAGCGCATAAAAGGGAGGAGGAAGCAGCGCTCCTGTAGGTCTCCTGGCTCTTGCTCCAGCAGGATGGCACAGGAAGACACATGAGGTCTTTTTTCTTAACTCAGATGTTCAGATCAGAACTCTTGTCTGGAGCCAATGAGCTGAGCCCCTGGGGAGCCAGGACTGATCCTGGTTTTAAGGCAGTTAATGTTCCCTATTCTTGCCTCCAGGTGTTTTTGAAATCCTCCCTACCCAGATAGGCACAAAAATAGATGATGTGTCTGGCTGCAAAGAAAAGCTATGCACATTCCTAAAAGCAAAAATGATACAAGCCATATTTCCTTCCATAAAACAAATAAACTAAAAATAAAGAATGAAAGGATAGCAAAAAAGAAAATAATTTATCAATAGATGCAGTTTTCAACAGATTACATAGAAATAGCAACAGAGAGAATCAGTGAGGTAGACATTAGCACTGAGAAATCACTCAGATTACAGCAGATATATAAAAAATGGCGACTGGGAATGATCATTTAGGAGGAATTAATGATAGAATGCACAATCTGTAAGAGTTCTAGGAGAGAAAGAATGGAGAGGAGGTATTTGGAGCTAACAGCTGAAAATTTTCCATAATTGAAAAATGTAATCAAATCAAAGAAAAAACAACCTAAAGAAAGTAGAAGCAATATAATAAGATTTAAACAAAATGATTTAGCAGCTAAAATTCACAGATTTCATCACTAAAATAAAAAGACAGTTCTTTGCAATGAAAAGAGCATTTAAAAATATTTTGTAATATAATATAAATACAAATATAATTTTAAAAGCAAGCTGGTATAAATATATAAATATATTTAAAATATAAGATATTAAATTAATATATTTCAATGTCTAGATTAAATGGACAGTTTTTGAGAACACTATAAATTATCATTTTTAACTTAATAAGAAACAAAATTCAAACAGTCAAAAGCATCTAAACCAAATTTAAAAGATAATAAAAAGAAAAAAATCTATCCATAATAATGAAACCAAGTTCAGGGATTTTCTTGAGTTAATAAATTTTATGAAACTTTAGCTCATAGATTAGATTATCCCTGTGTGATACAGACTTTGCTGTAGCATCAAACAATATGGGAAGGCTGCTACCTTATTCTGTGAGGCTAGTATAAAACTAACACCACAACTAGACAAAGCTGACACAAAACTAAATGAGATCAGCCAATCTCACTAACACAGAGAGCTGCAGAAATTAAACCCCAAAAAATCTTAGCGAATTTCACAGAATAATGATTTTTAAAAATGTGTGTGTCTTGTAAAATCAAGACTTAGATATGCAAACATGATTCAATAGTTTCAAAATCTATTAATTCAATTCTGTATGTCTTCAGATTAAAAGAGGAAAACAAGATCATCTCAATCAATATCAAGAAAGCATTTGCTAAAACCAACATCCTGATTACATTTCTGATAAAAATGTAAACAAAGCAAAACAGTGAAGTTAGAAATAAAAGAAAACTTTCTTAATTTTGTATAAGAGAGATCTAGAAAACTGGAGCAAACATAATAGCTAATGGCAAAATATCATAAATATTCATGTTAAAATTATACACAAGAAAAGGACACCTACTAGCACCACTTTTATGCAAACAGTGAATAAGAAATCTTAGCAGTAAATACAGAAACATTGTACAGACAGCATGAAGAAAAGACAAAACTGCCATTTTAAAAAGTTTTATCTGATAATCTACCCCAAAATTTCACAGAATTAACTGATAAACTATATTAACTAGTAAGGTGGTCTGATATAAAATAAACATTTAAAAATACTTACTAACAATAACCAATTAGAAAACATGATAGAAAGAAACAAATGCCATTACCAATTGTTTAAATGCACACAAAACCCCAAAGAAGAACTTTTATTATCTAAATGGAACCTCTTCTAGCATTACAGAGACCCCAATATCTAACAACTCCCTTAGCAACGTGACGTTCCAGGTGGTTCCAGGCAGGTGTGGAGGCTCTGGGTGCACAGGTGAGCAGCGACTCTGCCATCTTTTATACCCTGCTTCCAAGGCTATCATGGAGTTGCAATCCTGGTTAGCCAGAGAGGAGGAAAGCATGGAAGAGTGTGTATGTAAGGTTGTTATGGGGTGGCCTGGAAGTGGCATTCATGTATTTCAGGGCTCATCTGTGGCATCACACCTTCTTAAGGTCACTGGTTTGATACTGATTAGGGTAGAATCAGCTGTAGTAACAGACTCAAACGTGTAACAACTCCATCCAAGAGCAGTTCATGTTTCACTCATCCAAAAGCCCAGGGCAGCAGTCCAGAGGGGGAGGTTGGGACTCTGCTCCACTGCATCATTCAGGGACACAGGGGTTCTGTCACCTTCCACAGGTTTCTCCCAAGATCACCCTGGGAGTTGTCATCCAAGGCAGGAAGGAAAGAGAGCTTAGAGAAAGTGTGGGATGGTTTTAAGGTCCTGGCTTGGAAGTAACATCCATCACTTCTGCTCAAATTCCACTAACTACAACCTCAGTCATATGACCCCAACTAATTGCAAGGGAAGCTGGGAAGGGAATCTAACTGCTTGCACAAAGAAAAGGGTTGATTAAATTTTGAAGAGTTGCCAGCAAATTCTACCATAAACCTGACAAAGAGTATACAAGTCTGATGTGAATAAAATTGTAAACTTTGTTGAAGAATGTTAAAAAAAAAAAAATAAGAGGAGACATACCCTATACCTACACTGAAAGATACAGTCATGGAAAATGTAAATTATCTCCAGGTTAATCTATACATCTCATGAAAAACTGGATCCCTTCCTTACCCCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAATGTCAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCGAAAGAAAGTACCGTCAGAGCGAATACGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTCCTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCCAACAAATTTACAAAAAAAAAACAAACAAACCACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAGACACATGAAAAAATGCTCACCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGGTACCATCTCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGGCTGGAGAGGCTGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACCAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGAGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAATCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAGGGAATACTACGCAGCCATAAAAAATGATGATTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACTATCATTCTCAGCAAACTATTACAAGGACAAAAAACCAAACACCACATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTAGGGGTAGGGGGGAGGGATAGCATTTGGAGGTATACCTAATGTTAAATGACGAGTTACTGGGTGCAGCACACCAACATGGCACATGTATACATGTGTAACTAACCTGCACATTGTACACATGTACCCTAAAACGTAAAGTATAATAAAAAATAAAAATAATAATAAACCCCCCCAAAAAAAGAAAATTTTCAATTTAACTGAAAGTTTTATGAACTTGATAAAAGGTTTTTAAAATTCATATGGCAGATGTTTTAGTCAGTTTTGTGCTGCTATAACTGAATATCTGAGACTAGGTAATTAATGCAGAACAGAAATTTATCTCTGACCGTTCTACAGCCTAAGTCCAACTGAGGTGCTGGCTGGCTTAACTATCGGGTAACGGCTATTCTCTGCTTCCAAGGTGGTGCCTTGGATGCTGCATCTTCCAGAAGGGACAAATGCTGTGTCCTCACATAGCAGAAGAAAAGTGTATTATTAGTCCGTTTTCATGCTGCTGACAAAGGCATATCCGAGACTGGGCAATTTACAAAAGAAAGGGGGTTATTCGACTTACAGTTTCACATGGCTGGGGAGGCCTCACAATTACAGCAGAAAGTGAAATGCATGTCTCACATGGCAGCAGACAAGAGAAGAGAGCTTTTGCAGGGAGACTCCCATTTTTAAAACCATCAGATCTCGTGAGACTTATTCACTATCACGAGAACAGCACGGAAAAGATCTGCCTCCATGAGTCAATTACCTCCACCGGTTCCCTTTCACAATATATGGGAATTCGAGATGAGATTCAGGTGGGGACACAGCCAAACCATATCAGGAAGGAAGGGTGAAATGGGGCCAGACTTTCTCCTTCAAGCCCTTTTATAATGATATCAATTTGAAGAAACCTAAACATCTCTCAAAATGCCCCATGTCCCAACACTGTTGTATTGGGCATTACGTTTACAACATATGAATTTTGGGGGACATATTCAGACCACAGCAGTGGAGAATGTCTAATTCATTTTTACAAAGAGAACGATAAGATGGCAAATTTACTTGTATTTCATTCCATTTTGTGTTCCCATAAAGGAATACCTAGGGCTGGGTAATTTATAAAGAAAAGCAGTTTCTTTGGCTCATGGTTCTGTAGGCTGTACAAGAAGCATGGTGTCAGCATTTGCTTCTGGTGAGGGCTTCAGGCTGCTTCCACCACCAGTGGAAGGTGAAGGGGAGCAGGTTTATGTTGTGGTGAGAGAGAGAGCGAGAGAGGGTGAGAGAGAGAGCGAGAGAGAGGGTGAGAGAGAGGGCGAGAGAGAGGGTGAGAGAGGGAAGGGGAGCTCAGGCTCTTTTAATCAACCAACTCTCTCATGAACTATTAGAAAAAGATCTCACTCACTGCCAAGCAGATATCACCAAGCCATTTACGAGGGATCTGCCCTCGTGACCCAAGCACCTTCCACTAGCCTCCACCTCCAACGCTGGAGATCAAATTCAGCGTGAGATCTGGAGGGGACAAATATCCAACTATACCAGCTTTTTCTTATCACTATTGATCTGTTGTATTTAAAACATTGTAGTATTGTACCAAAGTAGAAAAATAAAACAGATAAACAGGCTCGAGGTTTTAGAAATATATCCTTAATATTACTCATCCTTAAAAAAGGAAGGAAATCCTGTCACGTGCTACAACATGGATGAATCTTGAAGCCACTAGGCTAAGTGAAAGAGCTGGTCATAAAAAGAATGCTGCATGATTTTACTTATATGAGATACATAGAGTAGTCAAATTCATGGAGACAGAAAGTACACTGGCAGTTTCCAGGCTTTCCAGGATTTTCACCCTTTTGAGGGTGAAATGATGAGTTATTTTTTAATGGGTACATGTTCAGTTTTGCAAATTAAAGAATTTCTAGAGATAGATGGTGGTCACGATTGCACAACAATGTGAATGTACTTAATACTACTAAACGGTACATTAAAAACAATTAAGATGTAAATTTTTATGTGTTTTTGCTATAAAATTTTTAAAACTCTTTAAAAATTAATATACTCTTCTGTTAATGAGATAGTAGCTTATGACAAAGATAATGGTGTTTAAAGTCAATAGTAAATGAATAGCTCATTCAATAAATAATTTGGAGATAATTAGATATCTATAGGAAAAATTTTTTCTTACATTATAAAAAATGTTCAGATATAAAATGGTACTGTAAACTTATTAGGAGAAAACATTATAGAGTGTTTTCATAATAGTGCAATGGTATAAATGCCAGATAAAAGTTAAGATTGTAAATTTAGTAAAAGAAAATATACGGAGTGGTTTCATTATATTGAAGTGAAGTACAAGTATTTCTAGGCAATGTGCAAAAATCAAAAGTCCTACATAAATCTAATGAAACGTTTGTCTTCATAAAAACCTAAAATCTTCTTTAGTGAAAAAGCAAAACACTGTAAAGTCAATGGGCAAGTGGTAGATTGGTAGATAATATTTGTAACATATTTAATCAATACGGATGAATATCAAGAATATATAAAGAGATCCTAAAATTGATAAGAAAGAAAAACATTTTAATAGAAAAATTTAGACCATGAACATACTCTCTCGGAAGAGTCAAACATAGTAAGCATATGAAAATGTGTTAAACTTACTCAAAAATCAAGAAATAGTATGTTACAACCATGAGACTTTTTCCTCATCTATTAGGCTGGGATTAATTTAGAAGAGGCAGGGTAATCAATGTTCTCATTCATCATTGGTGGGAGTGCAAATGTGTAGCCTTTCAGAAAAAGTGGCAGTAATTCTCAAAATTTAAATATGTACATATTTTGATTCATAAACTTTACAGCAGGAATCTATCTTAAATATGATGCCCAAGTGTGAAAAGGCATATATACATAAAAATGTTCATTTCAGCATTGTTGATTTAAGGAGAGATTGGGAAGTTAGATATTCATCGACAGGGGAATGAATAAATAAGTTTTGCTATAACCATACTGCAGAATACTCTGCAGCCATTAAAAAGAATAAGTTTGGCTTATAGGTACTAACCTTGGAGGATCCCTAAGACATGCAGTTTAACAAAACAATGCATATAGAACGATCAATTGTGTAATTGTATAGTAACGTAATGGAAAAGATTCATGCTGTATTGGTTGGGTATGGCCACAATTCTGTTGTGTAACAAACTCACTGGTCTTGAGGAAAATAACTTACTCGTATGAATCTCTGGGTCATGGAGCAGCTCTACCCTGACACTGAAGCAGTGCTCTGGTCTGCTGCACCTGATTCTCAACCTCCTGAGTCAGCAGGCTGGCCAGGATATGTACTTCTCACAGCGGTGGCAGAGGCGCAAGGGCCTGGACAGAAACATTTCAGACCTCTTAAAGTCTTGAAAGGAAGAAAGAAATATTTTTCCATTGCATTTAAGCAGTAGTGCATTTTAGCTAATTTCTACAATTACCATTGATGTAGTAGATGGAGAAATCTATTAAGTCCTTAAATTCTAATAACCTTGATGCCACAAGCCACATTAACAATATTAAGATTACTCCTTTGAAATGAACAAGTTAACCAGCTTTGCCCTTGTAGAGCTCACAAAGACCACAGATTTTATCCAGCCAATACCACTCAGTCAAAGCATTGGAGTTTTAAACGTAGACAGGTTCCCAACACAGCCACAGTCCAGCAGGTGAGGGGTTTGCTGGCTCTCTGGGACACTTCCAGGACAGATGTGTACTGTCCTACAAAACAGCTCATGCAATTCAAAGAAATCGAGATGGAGCTGATGTCAAAAGCACACTAAGTACTTAATAATGAGTTCGTATGGTTGTATAGTTAATAATTACTGTTAGGAAATCTACAATGGCTAAAATACACCCTTACATTTATCCAGTAAGTAGTGTTTAGATACCTATCTTTTTGAAGTCTAAAAATAAGTATGAACGCTAATATCATTTGGGCTCCTTCTTCAAAGCTGTTTCCCCTTGACTCTTTTATGAGTAAAAAAATATGCATAAAGTACAGAAAATGTGAGCCGTTTATGAACATCTGATGTGAGATGTTAGGGTTGACTTGGTATGTCCTTTGTCTTGAATGCAATGCTGAGTGGGAAACGGGATTCCTATAACCCAAGGCGTGCAGTGGTATTATGATTCAATTATCACCTCAGTTGCAGGGGAAGAAAGGCCTATTGCAGCAAGTACCTTGGGTGCTGTATCTGACCTTCACGGTGGTGGTGACAGCAAGGCTTGCGTCATGTTCAGAGAATCAGACAGCTTCTCCAGTGACACTAAAACCAAAACAAAACATCTTTGTTTTACTTACAAGCAGCAAGGCAGATAGAGCTGTATAAAATAGATGCAGAATTTAATGGAGTAGGTACAAAATTACAGCGTAAGTTCAATCCTCAGACTCGCCAATACATTTGTGTAAAAGTTAGGCTTTGATTGTAGCAGGGGGCTCTCCAAGACTTGGAATTGGGTTATCTGTGTGGATTCAAGAAAAGCTGGGAAATTTACACCCCAAGTCTCTCTAAGCCATCCTTGCTGAAGGAAGCAGCCTCCTCTCCCTGCCTGTAGAATCTTCCCTTATTTGAAGACCTTTTAATAACTTCACATGCTTGAGCTCCCTGGTAAGGTGATATCTAAAACTCTCAGGGCTCACTCCCATCACCCATTAGTGCATGAGACCCATAATTAGGGTCACAAATGTCAAGTATGTTCCACAGGGAGAAAAGCAAAGTCCAATCCAGAAGGACATGGTTTATAGGAGAGAGAGAAAAAAAAGAGAGAGGGAAGAAAAATGATAAAAAGGGCAATACTCACCAATTCAAAGTACCAGAAACATGGGTAAATGTAGTGCATGAATCCTAAGAACATTACACCACAGAGCACAGAATTCAACACTGAATAAGGCTGACCCCATCCATGTGAGAGCACTTACAGAGATTCTAGCTGAATGTGCTGATTTGGGCACCATGGAGCAGCTCTCACAGTTTGCATGGATGGTGGAGTGAATTTGAACTTAATGATGGCTCACATCTGAAGAGGCCAGACTCTCCTGCTCTCTGTGATGGACTTGTTCAGGGAAATGTCTGCATCCCAGAGAACATCTTCTTCCACCATACCCAGGACACCATCTTGGTTGAATCTGGTGAGCAAGCACAGCAAGAACCCTAAATGTCTTAATGAGACACATGTGTGGCAAAGAGTGAACAATAAACCCCATGAAATCTCGAGGCCCATGCCTTGGGGAGGTTTCTCATGGCCCTGTGGTCTGAAGCATGTTTGGGCATTTCTTCCAAAGTGAAACAGAAGTTGTTATTTCATCTATTACCTACCCCTAAAAAATGGGCACGGTGTTGAGAAAATGTCTTTGGAGGCAACAAATACCACATTTGAGAGTGCTGTCCCAACCCATTTATTGAGTAACCAACAAAGCTCCAAGGTAAGTGACTGGGGCCATATGGACACACATAAAAGTATAATTGAAGGCCAGGTGTGGTGGCTTACAACTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGTTCGAGACCAGTCTGGCCAATATAGTGAAACCCCATCTCTAGTAAAAATACACAAATTAATCGGGCCTGATGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACACAAGAGGCAGAGGTTGCAGTGAGCTGAGATCTCACCACTGCATTCCAGCTTGGGTGACAGAGCGAGACTCCGTCTCAAAATAAATAAATAAATAAATAAATAAATAAATAAATAAAAGCATAATTGAATATCTGTTTTCAGGAGCTTCTGGCAAGCCCAAATGAGAATCGCAATGCAAATATATAGGGCTTTGGAGAAAAGCCATGTTCTACTCTGCATATAATTATTATTTTAAGAATCAACTCTTATCTTGCTATGCTATTGAGCTTTGTCAAGACAAAATGAGAACTTCATGACCACTGTTCATCATGAATTGGCTATGCACCGACACACTAGGCCATAAGGTGGGAGGAGAATAAGATTCGGCAAGTCCAGAAACAGGTTTCATGAGCAGGTGACTGCTAAGGACTCCGATTCCATCTTTTCCTTCTTCTCCATCTTTTCTTCCCATAATTTACACTTAGGACCTCATTGGGAGTTGCCTACGGCAGCTGGTTTGCAGATGGTTCTGTTATGCTGGCACCAGCCATAAGTGGATCGCTGCCAATGCTACTGTCTCACTCAAGGATAGTGCTGAAGAACAAAGGGAAAAGGATAGCTTCCCAGTGGACAAAACTTGTAGCAGTAAAATTTAGTTTTTCATTTTATCTGCGTAACAGATGGCCAGAAGTACAGATCTACACAAATTCATGTGTGGTTCTCTGAGTAGATGGTCAGAGACTGGGAAAGAATGGCATTGGATAACTAGTGACAGACTGAAGAAGAGATGTGTAAATGGACTTCTCAGAAGGGACACAGGGTGGGGCATACCTGTGTCCCACGTGAATGTTCCCTGAAGGTCATCTGCTACACAGGAGACTTTCAGGAATCAGGGGGATGTGATGACACATTCAGTGGGTGTGCTGGAAGGCTCCGGGGTGTTTGCTCAATGGGTCTGGGTATAAAGTGGCTAAGGAAGTGGTGATAGAAGCCACTCAAGGGTTCAGCAGCATTAACTTCCCGGGGGAACCACTCAGCCACATGATAGGGCAAGCAGATTGTAACACTGACCTCCACCAATTTCTGCCTTGTCCTGATATAATGGCACAATGGCCTGAGAATACTCAGTTACAGCGCCCATAAAGTGACAGCATTCTGGAAGTAGTATATGCTTTGAAGCAGCAATCAATCAACAGAATACAGGAGTCTGGAAATCAAAGAGGCATAATTGGAAATGGCTCTTCTCATATTTCTTCTGCAGGATTTTTGCTTCTCCCTCCAGAATCTTGTGCTTTGCTGGTTTGGAGATTCTAGTTCCTAAGACAGAAGTGCTTCTGCTGGAGAAAATAAGGCTGTATCTGTTGAATGGGATACTGAGGCTTTATTCTGTCATTTGAGGCTTCTTATTCCACTATAAAGAATAGAGTAACTGTCCTGGCTGATCCCTAAGCAGAAATTGGGTTTCTGCTCACAAGGGAGGTAGGAAGAACCATGTCCCCCTAAAAACCCAGGGGATGCTCTTGAGTGCTTCTTGGCTCTGCCACACATAATAGAAAATGTTAGTGGACAATTTTGTGGGCTAGATTGTGTCCCCCGAAAAAGCTATGCTAAAATCCTAACCCCCAATACCTGTGAACGTGATGTTATTTGGGAGTACAGTCTTTGCAAATGATATCAAGGGTAGATGAGCTGGATAAGGGTGGGCTCTAGTCCATGTGACTATCGTCCTTATAAGAAACAGAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGATACCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTATTAAAAATACAAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATGGTGTGGACCCAGGAGGCAGAGCTTGAAGTGAGCCAAGATCGCACCACTGCACTCCACCCTGGGAGACAGTGAGACTCCGTCTTAAAAAAAAAAAAAAAAAAAGGAAACAGAGAAGAGACACAGACACACACAGAAAGAGTGCCATGTGACAATGGAGGCAGATACTGGAATGATGAAGCAACAAGCCAAAAAATTACCAGGACGTGCCAGCAGCATCAGAGCTAGGAGAGGGGCCTAGGGAGGCTTTTCTTTCAGAACCTCCAGAAGGAATGCATTCTGCTGACATCTTGATTTTGGACTTCCAGCCTCTAGAACTGTGACAAAATCAATTTGTTTTTTGAGCCACCACTCAGTTTGTGGTAATTTATTTTGTCAGCCTTTGGAAATAGAAATGGACAATAATAGCAACCTCACAAAGGCAGGACTGCTAAGGACTCACACCCTTTGGGAATTAAGGTTTGGGTCACCCGACAAGAAAAAGGATCCCCAACTAGTTGAGTTAAATATTAGCTACGATACTGTGGCCAGAAATGAAGACTGTAGCAGCTGTCCATATTTTCTTCTTATAAATATGTGTGTGCACACATGTGTGCATATATGTGCAAGTGTGGGCATGCATGTTGTAAACTAAAAATAAAATCCAAGCTGGGCACAGTGGCTCGCACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTAACCAACATGGGGAAATCTCATTTCTACTAAAAATACTAAAAAGTACTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTAGGTGTTGTGGCTCACACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCATGAGGATTGCTTGAACTGGGGAGGTGAAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTAGGTGACAGAGCGAAACTCTGTCTAAATAAACAAATATAAAATCCAGACTCTCCCACCTATTGAACAGACCCCATTGTGGCCAAGGAGAGCCCAGAGAAACCTGAAAACTGAGTTCCTGGCCATGACAGGATGGGACATCAGACATGCCTTGTTATGCCCCTTCCCTTTTATGGTTTAGTCACAACAGCCAGCATTAATGTTAAAATAGAGACTGTAAGAATGACAGAACAGACTCTTTGTGGCCATAAGATACCAAATTATAAACAGGACCTACCATGCCAAGCAAGAGGTAAGTCACACACCCCTACACTGAAAGGATAAACTATGTTCTCACAGCTTTTTCTTTTTCTCTAGCAGCTAAACAAGCCCCAGCCTCAACGTAAGCAATATTAAAACAATCACAATCCATCCAGCTCACAGACAGACACTCACTCACTAAACTCCTGTTCCGCCAGCCATAGTTACAGCTTCGATCAGACAAGAGACTGATTTCAGTAACTTTCTCCTGATAAGAGCCCACCAATCATGGACTGGTTCTGGCTGGTTTACAGAGGTTGCACACTTAAGTGCCTTTGTCTCCTGATAAAACCTGTTGACATATAGGGCTAAACTGTAACAAATTTAAATGGTAACTCTCCACCCCAAGGTGAATATGGGTTGTATGTTACATGCATGTTTGTTCACTAGGCATGTGTCAGGACCACCTTCATGAATATTCACAGCTCCTCCTGTAACTTGTTGAATATGTGTGTTTAGTCAACCTATTCAGAATGAAGCTTCTACAACTCAACCCCTTCTCCTTCAAAGTGCCTGTCTCCGGGCTTCAGCCAGAGGCATGCTTCCCAGCCTGCAGGTTGGCCACCTTGCAGGATGTAGCCCTTTATAAGAAAAAAGTCTCCTTTCCGTTTCTAAATTTAAAAATTGTGGATTTTTTTTTTTCAGTTAACAATATCCATTTAAATTTTTCAAATAGATGGTTTGCAAATGTTTGGCATGGGAAAATGCAGGCATATTTCATGAGTAGTTGTCAGAAATTAGGATCAATTTTACGAGGTGACTATCCAACAGGGACCAAGGAAGGAATCTCTGCCATTTTCATAGAGCCACTGATTGGCCCACTCATTGAAAATGCTGAGCAAGACCTCACCCTCACTCGCCCGGTCCTGAACCAGCCTGGCAGAGTTCTTGTCCCACTCAGAGATAGCGTTCTACATCCTATCTGAGTGACAGGATCAGCCCTGCCCTTATCAGCCCTCCGTAGATTCCATAATGAGGCTCCTACGAGTCTCTCTCATCTTCTCATTATCTCAACTACGATCCCTCTCCCTTTTATAGCACAAACTCCTCCAGTCCTGTGACATCTGTGATCATCAGGAACTTTTATTTTACCCATGGCTTTTTCCTCCTACACTGCTTCCCTCCACTTATCCAGAAACCCATCAATCTCTAAATGCTCTGCTCATGTATAATATCTTCCCTAAACTTCTGCACATCTCTAACCCATTAATATCACATAGTTTATGCTTAGTTCCTCCTCATTCATTTTATGAGATTTTGTTTAGCCCTAAAGATTTTTTCCATCTGGCTTGAAATTCTTACTTCTTTTTTTTAAATTTTTTGCCAAATTCAATCTTTAAAATAGGGGAACGATCCTCTTTCCTTCAAGAGATTTTGATGTCAGAAAGCACTGACTCACGCAAAGGTCCACATTTTCAGATTCACTGGCAAGCTGGTTGGTGAGGACAAGCTTTTGACTGAATCAAAGCTCAGTGGTTTTAAAGTGGAGTTGGGCAGAGCCTAGGCTTTTTGTGAGGGTGCTTAGGTGTCACTATGAAGGCCAGACGAGGGAGAGGGTGAGTGTGAGTTGAGTGAGTGAGACCGGAGCTTCAGCCAAAACAGCTATACTTTTGTCTATGTATATGCATATGTCTATATGTGTATATGTATGTATGTGTATGTGTACATGTATATGATATGCGTGGATACATGCTCATGTATATGCACTTGTGCATGTATTTGCATATGTATTTGTATATGCATTTGTATGTGTATGTGTATATGCATGTATATTTATATTAAATAGTGGGTAACTTTTCATTTCCCAGCAGGTTCAGATGCTTTAGAAACATAGTTTGAGATTCACTGCTTTAGGACCACATACTCATGATGAAAGACAAAAACGAAAAATAAACAGAGTCAGGGAGATTAAATCTATAACCAAAGACAACATGAGTATTTAATGTCAGCTACTCAAGCTCCAGTTTCCCCCTTCTGGTGAAAGGCTTGTTCCCTGGGGTCTTCTCTCTCAAAGGTCAGCGGCAGGAACTCCTTGGGGACTGGATGAGTAACTGGCATCTTTCAGTCCTGGGGTTGGGCTGTGCCTGTGGCTCTGAAACTCAGAAACTCCTCAGCCTGTGACCTCATGGGCTGGATCTGGCCCTGGCTCTGCCACTCAGACTCCGTGACATCTCCTCAATCCCTTCCCGCTGCAGCAGAGTGGCTACTGTGCTGCTCTCCAGCCAGCCTGGGGACTACCGTCTCTTAGGGCTTCACTGTAGGACGCACCTTTTATTCTCTGGATAGTTTTTATGACTTTGTTTGTTATTTACAGGCCAAGTTCAGTGGCCCCTGTAAACACAGTCACAATCTGCAACCGTGCTCTTAATTATGATCTTATTAAGAAATAGATTCCCACACAACTGGCACAAGGATGCCAGAAGCCAATATTTCTAATTCATAAATGTTTAGACTTATTTTCTCTCACCAAAATGTGCCTCTGAAAGCCTCAAGAGAAGAGGAAATAAAGAAATAAAAGTGAAAAAAGCAACCAGCAATAAGGATGATTCTGTTACTTCAACTATGCCTAAGACAGCCTGACCTTTAGCTGGAAATGGCCAGTCCCTTCTGGACTGTTAGGCAGAGAACTAAAAGTCAGGGGCTTCATGAAGAGGGTGGAGATGAAGTGAGGCTCGCCAAGGCCTGCCTGCCGTCCCATCGCTCTGAGGTGATGGGAGGTTCTATCCTGTTTCAGAAATTAGCACACTGAGCCTTTGGAACCCTGTAGGTCTCTCCTAGATTGCAGCCTGTCAGATGGTGTCCCTCAAGTGGCCCTACCTTCTTAATGTGAAGAGCAGCACTCAGGCAATATGACTTCCTCCAGCTTCAAAGGCAAACAAAACTTCAAAGGCTGATGCAGCCTTTCTTTTTCTTTACAGCAGATCACTAACAGAGCCTTTTGTACATTGCAAACATTTGTAAATATATATTAATATTTGTTCTAGTCCTGACCTGAACAGAACTTTTTGCATGATGAAATGCATAAACCTCATCCTAGAAATAAATGAGCATTCTGGATAAATATTTTAGCATTTTTATGAAGTTTTTTTTTTTTTTTTTTTTTTTTTCGAGACAGAGTTTCACTTTATTGCTCAGGCTGGAGGGCAGTGGTGTGATCTCAGCTCACTGCCACCTTCACCTCCCAGGCTCACCCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTCTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCACCTCGGCCTCCCAAAATGCTGGGATTACAGGCATAAGCCACCGCATCAGGACTTTATAAAGTTTTTTTGTTTTGTTTTGTTTTTTTGAGACGGACTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCATGGCAAGCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACTGCAGGTGCCTGCCACCATGCCCAGCTAATTTTTTTGTATTTTTTAGTAGCGACAGGGTTTCATCGTGTTAGCCAGGATGGTCTCAACATCCTGACCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCATGCCCGGCCCATAAAGTATTTCAATGGGCTAAGAATTCTTCCAAACCTCAGCTGAACACCTGCTCTGCTGATTCCTGACAACTCCAGCTGGGTCCCCAGGACTAGACAAAGATTTCAAGCTTCCTTTAGCAGCTATGTTGCTCTTTGCACCCATGCCTGCAACTCTTTAATCTTTTTTTTTCTGTAAAGTTTTCTAATGTCAGTCTTTGAATTAGCTTTCTAGAGATCTGGAAGATCCCTTGCACCATGAATAGCTAAAGTTAAAAGAAATGTATAACATAGTTGAAAAGGAATGGAAGGCGTAGTAGATGTAGATTGAATTTTCCCTGATGTTTATAATTATTTGCAATTACTCATGTCATTTTCATCCTTTTACAAGATCATGGCCCCGTTTCATAGGGGAGAAAGCTAAGGGTAAGAAGGTAAAGGGATCTGTCCAAAAGCTGACAACTAACCCACTAAAGGCTCAAGGTCTTACTTAGACTCCATTTATTTTCTAAACCAAATGTTTCTGCTCTTTCCCTCACATCACAAGGGCATGCAGAAGGATGCTTATAAATCACCACTGACTGCTGGGGTGGAAAGGAGAAACGAGTGCACAGACCAACATGCAGATTCACCTGCAAACACTGTACACACCTGTCCTGGAACTCTCTCCTTGCTCTGGAGCCAAGGATAATACAGAGAGGACAAACACTGAGGTTTTAGTTCCAGGCACCTCTGTGCCTGGAGACAGGCAGCACCTTAAAAACACATGATGAGGCAATTTGAATGTGAAACATCAGGGTGCTTTCCCTAAAGCATCCTTCATGTTCCATCAGCAATTGTTCTGTGGGTGTAATCAGTTTATGTTTTCTTCTGCTCTTTCCACAGTCTCTCCAGATATGTCTTCCTCCCTCTGTAAGGGAACATGAGAAGCGTTGCCAGTTTAAAAAAAAATTGTTAATAAACATACAACTTGCATGTGCTTGCTTGAGATGCCCATTACTGAAGAATTGGCTCTAGAAATTCTAGAATAGGAGCACTGATACAATTATGAAACTGATCCTCCCAAGCAAAATACTCTAACTTTTTGTTAACAGAAGAAAAAGGCTTTGAGCCAGCTTTCAAAATCTTTTCAGTTTGTGCCTTTGAACTTTATGGTGAGGGTGGGGAAGAGCAAAATCTACTAGTCAAGCAGAGACCTTGTCTGCTTTCCTTCCACAGTCTCAGAAACTGGGTAGAAATTAACTGCCTTTAAAGACAAGAGGCAATTGCAATTCCATGAGCACCAGCCTTACATCCCCATCATTTGTGTGCTGAGAAAGGTGACAGCAGCCTTCCAGGGCCTTGGTATTCAGATTGGCAAACTCCACAGCAGGAATGCTGAATGAGGCAGAACTTTCTCGGAAAAGTGTTGAATCAGTACATTTCGATGGAACAGCCCCCAGAGGCATAATATTTAGTGATTTCAGCCTACATTATTTATTGACTCATCAGGAGTTTGTGGGTTTAACATTTTATTAATATGGCACCAGGTCATCTGAGAAAGTGGTAGCCATAGGAAATCTTCCCAGAAGCACATTTTCATATTATAAACAGTGCCCTTCGAGGACTAAACAGAGTCCCCACTGTGTCTCTGGGGAGAGATAGAAAATGCCACATCTTCTACAAGCCATCTCTCTCTAAGGAAGTCAAATGGCAGTGAGTAAAATCCATACCTACTTTAATTCTTTTGTTGATAATCTTGTAGTCCTTATTCTGTGACTTCAGATTTGTACACATCTGGGGCAGCTGCAATCTCTAGGACCTAAGGTAGATTTGGGTACTTAAATGAGTCCCTGCTGTTTCATTTGTTAAGTGACCCCCAGATGTCTGGCATCAAAGAAAACTTTCAGTATTGAGAATGTGGAATCAAGATCAAACAAAATCCATATCCAAGGGAATTTGAAAAGGGAATCAATCTATAGTATCAAGTTTCAATAAGATACAATTTAGCCATTTTCCAAACAAAAGGAAAACTCAATACTCATGATTTTTCTCTCCTATATTACATTACATACTATTTTAAGATAATCACAAATACAGAACAAACTACCATCCGATACTCTTCTTAAAGAGATTGATAGGGATTTGGCCTAGAGATTTGGTTTGGTTTAATCTCAATGATTAATATTTCTATAAGTTTATATTGATTGATATTACAACATTTCAAAATGCCATTTAAGAGCTCAAACAAGAAATAAAGTTGTTAAGAATACTTTTACTGTGTTAGTTAGACATTGATAAGATAGATAGACAGGTAGAATATATAGTCATGTACCACATAACAACATTTCAACCAACAATGGACCACATATATGATGGTGGTCCCATAATATTATAATGGAGCATATATAGAAACCTAACTTATGGCACTTGTTATTGGCATTGCAGATCAAGTAGGGGAAATGACTGATATTTAGTAATGATGCTGGGACATTTGGTTTTCCATGTAAAAAATATATATAAAATAAGTATATAATATTATAAATATATAAGTATATAATATTATAAATATATATAATATACATATAATAATATGCATATACATCATCTAGGTTTGTGTAAGTACACTCTATGACATTCACACAATGACAAAATTGCCTAACGTTGCATTTATCAGAATGTCTCCTCATCATTAAATAATGCAGGACTGTATATAAACATACAGACATATAGCATGCGTGACAACTTTCTCATGCATGGCTGAGAACAGGGCTCTGGAGCCAGATTTTTAAATTCAATTCCTGGCTCCACCAGCTGTGTGGCCTTGCCTAGGATGACTTGCCTTCCCATTTTGAGCCTCAGTTTCCTCATTTGTAAACTGGAGGTATTTCTAGCACCTACTTTGTATGTCTGTAAGAGCTAGCACAGTACCTGACACATGGTAAGTGCTAAATAAGTGTTGACAATTATTTCTATGTGTTTATTTTATTATCAATTCTTTTTTGGACCTCAGGTGCACAGGACATCAAGCATACCACTCAGATCAAGGCTCCTTATTAACTTGAGAACAGCCTCTCTTTCATTTTATGTTTTGTTCCTGTATTATTCTGTTCTCCCATTGCTATGAAGAAATACCTGAGGCTGGGTAATTTACAAAGAAAAGTGGTTTAATTGGCTCACCGTTCTGCAGGCTGTGCAGAAGGCATGATGCTGAGTACATAGCTGAGCATCTGCTCAGCTTCCAGGGGAGCCTAAGACAACTTAAAATCATGGCAGGAGGAGAAGGGGGAGCAGGCACATCACATGACCAGAGCAGGAAGAAGAGAGAGAGAGTGAAGGGGGAGGTGCCATACACTTTTCAACAACCAGATCTTGCAAGTACTCACTCACTGTCATAGGGACAGCACCAAGGGGAGAGTGCTAAACCATTCATGAGCAACCACCCCCATGATCCAATCACGTTCCCGCAGGCCTCACCTCCAACATTGGGAATTACAGTTCGACATGAGGTTTGGGCAGAGACACAGATCCAAACCTTATCAGTCCCCATCTCCTGCTTCATTCTACCCCTGAGCACAGGTTTCATTTTAATTTAATTTAATGTAATAGTTGGCATGCATTCTTTCCTTGTAGATGACATCATAAAATGTGTAGACCTGTTTTGTATGCATACATTTTAAATTACGTAAATGCAATTTTGCTTCTTCCTTTTTCCCTCAGATAAGTGTTTTTAAGATATCCTTGTTGCTGTGTGCACACCTTGTCAGTATCATGCATTCACCATATTTTACATGTCTATTACCACAGTTGTTGGTTGAATTGTGTCCCGCCAAAAATATGTTGAAGCCATAACTCGATATAATTAAACTAAGATGAGTTTTTATTGTATTAAAATCTAAATCCTAAATCCCTAAATCCAAAAACTTTTGTTCTTATAAGATGAGAGAAATCTGAAGACATAAACAGGAAAGAAGGCCATGTAAACATGGAGGCAGATTGGAGTCATGGTGCTACAAAGCAGGGAATGTTAAGGATGGCTTTCAACCATCAAGAATTGGAGGAGGCAAGAAATAATTCTTCCCTAGGAACTTCAGAGGGAGCATGGACCTGCCAACAATTTGATTTCAGACTTCTCATCTTTAGAACTCAGAGATAATAAATTTATTTTGTTTTAAGCCACTCAATTCAAGACAGCTTGTCATAGCAGCCCTAGAAAACTAGTACAAAGTCTCCAACCATTTTTGTAGTAGAACTATCTATTTCTTCCCTTAATTCTGTCAATATTTGTTTCATATCTTTTGGGGCTCTATTGTTTGGTACATATGTATTTACAATTGTTATATCTCCTTGGTGAATTGATCTTTTAAATCAATATTTAATACCTTTTTTGTCTCTTGCAACAATTTTTGAATCAAAGTCTATTTTATCAAATATTAGTGTAGCCACTCTAGCTCTATTTGCATGGACTATCTTCTTATATCCTTTCATTTTCAACCTATAATATTTGTGTCTTTGGCTTTAAAATGAGTCTCTTTTAGACAGCATATAGTTGGACCATTTAAACAAAATCTATTCTGCCAGTCTCTGTCTTTTAACTAGTGAGTTCAATCGTTTGCCTTTAAAGTGACTACTGGTGATTTTTTAATTTAGTTCTTGCATGTCTTTTATCTCTTTGCTCACTGATAACCTCCAATACTGCTTTCTTTTGTGTTAGATTGATTTTTTTTCTAGTTTGTCATTTTAATTCCCACCTCATTTCCTTTTATGTATATTTTTAGATATTTTCTTAGTGCTTACCATGGGGATTACATTTAAATCTGAAATTTAAAATAATCTAGTGTGAATTGATATCAAATTAGCTTCAAGAGCATATAAAAACTCTGTTCTTGTACAGTTCAGTATCCCCCTTTATGTTGTCACAAATAACATTTTTATACATTGCATGATTATTAACACAAAGTTAAAAGTACTATTTATGCATTTGTTTTTAAAATAAAATAGGATATAAAAAGAGGAGTTATACATCAAAAATTTAATAATACTGGCTTATGTATTTACCTGTATAGTTACCTTTACCAGAGCTCTTATTTCTTCATATGTGTTCAAATTCCTGTCTAGTTTCCTTTTATTTCAGCCTGAAGGATTCTATTCAGCATTTCTTAGAGGTCAGGCCTCCTAGTGATACACTTCCTCAGCTTTTGTTTATGTGGGAAAGTATTAATTTCTCATTTCATTGAGAATGATAGCTTGCTGGACATAGAATTCTTGGTTGACAGTTTTATTTTATTTTAAGCTCTTTAAATATGTCATCCCACTGCATTTTGCCCCCCACAATTTCTTATCCCTTAGGTTCTATAAATTTTTCTTTATTATTTTTTCTTTCTGCTCTCCAGACTGGATAATTTCAATTGTCCTAGCTTCAAATTCACTGATTCTCTCATGCCTGCTCAAATCTACTAGTGAACCTCTCTAGGTTAATTATTTGTTTCAGTTATCATGCTTTTCAGGCTCAGAATGTCTACTTCATTCATTTTTTATAATATCTATTGCTTTGTTGCTATTCTCTATTTTTTCATATGTAATTCTCCTGTTCACAGTTTCCTTTGTTCACGATTTACTTTAGCTCTTTGAGCATATTTTAGATAGTTAATTTAATTTCTTTGTTTAATGAATCCGATGTTAGGGCTTTATCATTGACGGTTTCTGTCTGTTTTTTCTTTGTTGTGTGTGAATAGGCCATACTTTCCTCTTTTGTATGCCTTTGATGTTTGTTGTTGATGTTGAAAACTTGACGCTGTGAATATTATAATATTGTAACTATGATAATCAGATCCTTCCCCCTCCCCACGGTTTGTTGATGGTGATAGTAAAGAACTGCATTCTGTTTTTTTATTTTTGCAAAGTATTTTTATGAAGACCGCATTCTTTATTGTACATAGTCTTGCAATCTGTTTCATTATTTCCTCATTTGACCTGTGACCTGATAGAGATTTCCTTAAATGCCTGGAGCCAAAACAAAAAACAACAAAAAAAAGATTTTGGTCTTTTCATATTGGCCCTGAGCTGGTACAATACTTTATTGTTTAGACAGCCCACCTATAACTCAGCCTTAGCTTTCATGAAGCTCCATGCCCAAAGATACCCAGAGTTGCAAGTCTAGGGCACTGTCAGTTCTTTTTATGAGAATGTATTTATCTTTGGGTGTAGACTTTACACTCCAGATTACTCATTATGTGCAGTGCCTTTACTTCCTCAAGAGTCTACCTCAGTAGCCACCTCATTCCCAGACCTTTAGGACCATCTGGTATCTGCTCCGTCCTCCATCACTTGTCTTAGGTGGCTATGGGTAGCACTCCAAACACTTTCATGAGATGATACCTAAAAGGCTCCTCCAGCAGAAAGAGATGAAACAATGGTCAGCCTCTGTGCTGGTCTCTCAGGGAACTGCCACATAAGTCAAAACCTACAAATACAATTTATTTTCAGAACAAGGTCTATATTCTGCCACCTACCACCCAGGCAGTGGCACCAGCAAGCCACATCATAAATTCATGTTGTGATTCCCAGGACCACTGGTGATCTAGGGAATCAAGAATTGTCTGTGGGTCAGAAAAAAGCCACAGTTTTTTCTTACTAAAATTCAGCTTTCTCTTTTTTCAATAGATATTCTCTGATTATTGTAAGTGTTGAATTAGATTGCAGAGTTTTAGTAAAAGTGGATTCTGCCAGTTTTTCTAAGATTAATGGTGGCTTCAGTGGAGGAACCAATTCTTGGAGCTCCCTACTTAACTAGTCCTATCATGTAACCACACTCCTAATCTTTTAAAATGAAGAGCAGTAGAAATGAACAAAGGTAACATAAAATTTACTGGCTTTCTCATTTTTGATTTCTCTAAAGTCTTACTATTTAAAGCAAAAATAATAACAGATTTTGTGTCTAAAGCATATGTAAAATTGTAGTGTATAAAAATAGTACATAGGTCAGAGGGAGGATTGGAGATATATATAGATATATAGAGAGAGATATATACACACACATACACAAACACATTCTTATAATATGTAATTTTAATTTTATTTTTCCCTTTATTCTTATCATTGTATATGTAATGTTTTTGCAGCCCATTTTTTGCCACTTACTATGTGTTGAAGGACATGAACCAATCACAATATTTGTAATGACTTCATGATAATCCCTCTGTGTGTCAGTGAAAATGTATTCACAGATAAAAGGCTCCTGACTAACTAATTTAAGCAGAGAAGGACTTTGCACAAGGCATTAAATTGCTTAATCCATGACAGGAGTGAGACAGCTGGATTTAATGTCTAGAAATGACACCCAAAGACAGCCTGCACCACTAAAAGCCCAGGAGAGTTGCTTCTTTGGACTTAGCATTAGGCCACTTGTATTAGTCACAGTTCTCCTGAGAGTATTACACACATCTCTCTGTCTCTCTGTCGCTCTCTCTGTCTCTCTGTCTTTCTCTCTCTTTCTCTCTCCCTCTCTTTCTGTATATATATATATATATATATATATATATTTGATGGTTTCTGTTTTTTCTTTTCTGTGTGTGAATAGCCCATACTTTCCTCCTTTGTATGCCTTTCGATGTTTGTTGTTGTTTGCTATATATATATATAGAGAGAGAGAGAGAAATACACATAAAATACACACACATATATGTGTGTGTGTGTATATAATATACAATATATTACATATGTTATATGTAATAAGGATTTGGCTTGCACAATTTTGGAAACTGGCAAGTTCAAAGTTCAAATCTGAAGTAAGATCCAGGAGAACGGATGGTACAGATGAAGCCCAAAAGCACTCTTTTGGAAAATTTTCCATTACTCAAGGTATGGTTTGCCTTTTGTTCTGTTCAGGAATTCAAATGATTCGATGAGGCCCAACTACATTATGGAGGGCAATACACTTTACCAATTGAAATGTTAAGTGTCATCTCCAAACACCCTCATAGAAACACCCAGAATAATGTTTAACCAAATATCTGGGCACCCTATGGCCCAGTTAAGTTGATACAAAATTAATCATCATAAGCATCCCTTGTCAACCTGACAACCATGCACATCTTGAAGAGATAATAACAAGGTCATTCTTCTGCCTAACATGGTGCAAACATCCTGTGTACAACCAAAAACACATGAAATATTTCCCCAGAAAAATAAGCAAAATAATTGGATGATGTTTATATTTTTCGTTTATATCCCAAAACTTAAATATCATGTTGTAAAATGACAATATTTAACTACTATGAAAGAAAGTCAGCCAGGCGTGGTGGTTCATGCTTGTAATCCCAGCACCTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGCCATGAACCCAGGAGGCGGAGCTTGCAGTGAACGGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGTCAATACTTGTTATGTTACATAATAAGGGAATAAGAGAGAGAACAAAAGATATATATACACTTACACAC	VUS	1 lab	44bbad979e
17:48153943 ITGA3 C>G	17	48153943	48153943	C	G	ITGA3	c.1825-5C>G	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48153943C>G	(Likely) benign	1 lab	44bdcd6a18
19:48204802 BICRA T>TTCC	19	48204802	48204816	T	TTCC	BICRA	c.3825_3827dup	NM_015711.3	NP_056526.3:p.(Ser1276dup)	NC_000019.9:g.48204814_48204816dup	VUS	1 lab	44c5700a89
5:112173248 APC A>G	5	112173248	112173248	A	G	APC	c.1959-2A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112173248A>G	(Likely) pathogenic	1 lab	44c6381bb9
2:219747146 WNT10A G>A	2	219747146	219747146	G	A	WNT10A	c.376+1G>A	NM_025216.3	NP_079492.2:p.?	NC_000002.11:g.219747146G>A	(Likely) pathogenic	1 lab	44caa5a847
16:9928022 GRIN2A C>T	16	9928022	9928022	C	T	GRIN2A	c.1717G>A	NM_001134407.3	NP_001127879.1:p.(Val573Ile)	NC_000016.9:g.9928022C>T	VUS	1 lab	44d0df0bfe
18:43532569 EPG5 C>A	18	43532569	43532569	C	A	EPG5	c.1049G>T	NM_020964.3	NP_066015.2:p.(Arg350Leu)	NC_000018.9:g.43532569C>A	VUS	1 lab	44d4986392
3:184045661 EIF4G1 T>A	3	184045661	184045661	T	A	EIF4G1	c.3824T>A	NM_198241.3	NP_937884.2:p.(Leu1275His)	NC_000003.11:g.184045661T>A	(Likely) benign	1 lab	44daf7614a
6:42937419 PEX6 G>A	6	42937419	42937419	G	A	PEX6	c.1354C>T	NM_000287.4	NP_000278.3:p.(Arg452Cys)	NC_000006.11:g.42937419G>A	VUS	1 lab	44e11627d1
6:29912147 HLA-A C>T	6	29912147	29912147	C	T	HLA-A	c.868C>T	NM_002116.8	NP_002107.3:p.(Leu290=)	NC_000006.11:g.29912147C>T	(Likely) benign	1 lab	44e4caf1d0
3:47164420 SETD2 A>C	3	47164420	47164420	A	C	SETD2	c.1706T>G	NM_014159.7	NP_054878.5:p.(Phe569Cys)	NC_000003.11:g.47164420A>C	VUS	1 lab	44e54011d4
9:14868739 FREM1 TACCTGTGGAG>T	9	14868739	14868749	TACCTGTGGAG	T	FREM1	c.227_234+2del	NM_144966.7	NP_659403.4:p.?	NC_000009.11:g.14868740_14868749del	(Likely) pathogenic	1 lab	44e696f4ea
X:122318451 GRIA3 C>A	X	122318451	122318451	C	A	GRIA3	c.64C>A	NM_000828.5	NP_000819.4:p.(Leu22Ile)	NC_000023.10:g.122318451C>A	VUS	1 lab	44ee537c5b
17:56348209 MPO G>GT	17	56348209	56348211	G	GT	MPO	c.2045dup	NM_000250.2	NP_000241.1:p.(Asn682LysfsTer33)	NC_000017.10:g.56348211dup	VUS	1 lab	44f0fc9550
11:16007866 SOX6 T>G	11	16007866	16007866	T	G	SOX6	c.2007A>C	NM_033326.3	NP_201583.2:p.(Lys669Asn)	NC_000011.9:g.16007866T>G	VUS	1 lab	44f37a6716
X:54497147 FGD1 T>TG	X	54497147	54497155	T	TG	FGD1	c.527dup	NM_004463.3	NP_004454.2:p.(Leu177ThrfsTer40)	NC_000023.10:g.54497155dup	(Likely) pathogenic	1 lab	44f4e4597f
9:138657464 KCNT1 C>T	9	138657464	138657464	C	T	KCNT1	c.1201-6C>T	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138657464C>T	(Likely) benign	1 lab	44f6825f0a
8:42151006 IKBKB A>T	8	42151006	42151006	A	T	IKBKB	c.364A>T	NM_001556.3	NP_001547.1:p.(Ile122Phe)	NC_000008.10:g.42151006A>T	VUS	1 lab	44f78f5894
3:47103785 SETD2 G>A	3	47103785	47103785	G	A	SETD2	c.6161C>T	NM_014159.7	NP_054878.5:p.(Pro2054Leu)	NC_000003.11:g.47103785G>A	(Likely) benign	1 lab	44f850d52f
9:140881266 CACNA1B A>G	9	140881266	140881266	A	G	CACNA1B	c.1934A>G	NM_000718.4	NP_000709.1:p.(Asn645Ser)	NC_000009.11:g.140881266A>G	VUS	1 lab	44fa3d5cc1
16:84215475 TAF1C G>A	16	84215475	84215475	G	A	TAF1C	c.911C>T	NM_005679.4	NP_005670.4:p.(Ser304Phe)	NC_000016.9:g.84215475G>A	(Likely) benign	1 lab	44fce2a7ff
19:50918842 POLD1 C>T	19	50918842	50918842	C	T	POLD1	c.2712C>T	NM_001256849.1	NP_001243778.1:p.(Ala904=)	NC_000019.9:g.50918842C>T	(Likely) benign	1 lab	452772bc83
6:152770681 SYNE1 T>G	6	152770681	152770681	T	G	SYNE1	c.3512A>C	NM_033071.4	NP_149062.2:p.(Lys1171Thr)	NC_000006.11:g.152770681T>G	VUS	1 lab	44ff29faa5
7:39990716 CDK13 TG>T	7	39990716	39990724	TG	T	CDK13	c.484del	NM_003718.5	NP_003709.3:p.(Ala162ProfsTer174)	NC_000007.13:g.39990724del	(Likely) pathogenic	1 lab	4500955654
9:73206109 TRPM3 T>A	9	73206109	73206109	T	A	TRPM3	c.2566A>T	NM_020952.6	NP_066003.3:p.(Met856Leu)	NC_000009.11:g.73206109T>A	VUS	1 lab	450139ca97
1:220312425 IARS2 G>A	1	220312425	220312425	G	A	IARS2	c.2251G>A	NM_018060.4	NP_060530.3:p.(Asp751Asn)	NC_000001.10:g.220312425G>A	VUS	1 lab	45022b55e9
5:71490506 MAP1B A>C	5	71490506	71490506	A	C	MAP1B	c.1324A>C	NM_005909.5	NP_005900.2:p.(Thr442Pro)	NC_000005.9:g.71490506A>C	VUS	1 lab	450f5adfe0
19:38954390 RYR1 C>T	19	38954390	38954390	C	T	RYR1	c.2686C>T	NM_000540.3	NP_000531.2:p.(Arg896Trp)	NC_000019.9:g.38954390C>T	VUS	1 lab	4514972549
13:32907248 BRCA2 GT>G	13	32907248	32907251	GT	G	BRCA2	c.1636del	NM_000059.4	NP_000050.3:p.(Cys546AlafsTer12)	NC_000013.10:g.32907251del	(Likely) pathogenic	1 lab	451a55555a
17:73736854 ITGB4 GCCCCT>G	17	73736854	73736862	GCCCCT	G	ITGB4	c.2551-16_2551-12del	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73736858_73736862del	(Likely) benign	1 lab	451acfe0cb
19:2435052 LMNB2 C>T	19	2435052	2435052	C	T	LMNB2	c.802G>A	NM_032737.4	NP_116126.3:p.(Asp268Asn)	NC_000019.9:g.2435052C>T	VUS	1 lab	451c01cc86
11:1256604 MUC5B C>A	11	1256604	1256604	C	A	MUC5B	c.2841C>A	NM_002458.3	NP_002449.2:p.(Thr947=)	NC_000011.9:g.1256604C>A	(Likely) benign	1 lab	451e5bd53c
1:22206649 HSPG2 T>C	1	22206649	22206649	T	C	HSPG2	c.2294A>G	NM_005529.7	NP_005520.4:p.(Asn765Ser)	NC_000001.10:g.22206649T>C	(Likely) benign	1 lab	451ecaf081
7:21628919 DNAH11 A>AT	7	21628919	21628920	A	AT	DNAH11	c.2068dup	NM_001277115.2	NP_001264044.1:p.(Trp690LeufsTer4)	NC_000007.13:g.21628920dup	(Likely) pathogenic	1 lab	451ee8cbe6
12:133087012 FBRSL1 T>C	12	133087012	133087012	T	C	FBRSL1	c.1750T>C	NM_001382741.1	NP_001369670.1:p.(Ser584Pro)	NC_000012.11:g.133087012T>C	VUS	1 lab	451f12c86b
11:2683189 KCNQ1 A>G	11	2683189	2683189	A	G	KCNQ1	c.1394-2A>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683189A>G	(Likely) pathogenic	1 lab	451ffd8d10
14:30066730 PRKD1 GATA>G	14	30066730	30066733	GATA	G	PRKD1	c.2398_2400del	NM_002742.3	NP_002733.2:p.(Tyr800del)	NC_000014.8:g.30066731_30066733del	VUS	1 lab	4524ac8dac
14:94776221 SERPINA6 A>C	14	94776221	94776221	A	C	SERPINA6	c.736T>G	NM_001756.4	NP_001747.3:p.(Ser246Ala)	NC_000014.8:g.94776221A>C	(Likely) benign	1 lab	452a0e47c7
10:28879714 WAC G>GCC	10	28879714	28879715	G	GCC	WAC	c.428_429insCC	NM_100264.3	NP_567822.1:p.(Arg143SerfsTer5)	NC_000010.10:g.28879714_28879715insCC	(Likely) pathogenic	1 lab	452b59f39d
2:179403703 TTN A>G	2	179403703	179403703	A	G	TTN	c.98959T>C	NM_001267550.2	NP_001254479.2:p.(Ser32987Pro)	NC_000002.11:g.179403703A>G	VUS	1 lab	452b9d8e02
19:45867034 ERCC2 G>A	19	45867034	45867034	G	A	ERCC2	c.1085C>T	NM_000400.4	NP_000391.1:p.(Ala362Val)	NC_000019.9:g.45867034G>A	VUS	1 lab	452baaa91b
12:90010830 ATP2B1 T>C	12	90010830	90010830	T	C	ATP2B1	c.1830-14A>G	NM_001682.3	NP_001673.2:p.?	NC_000012.11:g.90010830T>C	VUS	1 lab	452c0990da
3:41275226 CTNNB1 C>G	3	41275226	41275226	C	G	CTNNB1	c.1392C>G	NM_001904.4	NP_001895.1:p.(Ala464=)	NC_000003.11:g.41275226C>G	(Likely) benign	1 lab	452ca69746
16:3779338 CREBBP G>A	16	3779338	3779338	G	A	CREBBP	c.5710C>T	NM_004380.3	NP_004371.2:p.(Gln1904Ter)	NC_000016.9:g.3779338G>A	(Likely) pathogenic	1 lab	452d1036d8
3:52441251 BAP1 A>G	3	52441251	52441251	A	G	BAP1	c.519T>C	NM_004656.4	NP_004647.1:p.(Tyr173=)	NC_000003.11:g.52441251A>G	(Likely) benign	1 lab	4537dd3b28
17:80085681 CCDC57 C>T	17	80085681	80085681	C	T	CCDC57	c.2450G>A	NM_198082.4	NP_932348.2:p.(Arg817His)	NC_000017.10:g.80085681C>T	(Likely) benign	1 lab	4541e8caab
1:6206903 CHD5 C>T	1	6206903	6206903	C	T	CHD5	c.1412G>A	NM_015557.3	NP_056372.1:p.(Arg471Gln)	NC_000001.10:g.6206903C>T	VUS	1 lab	45437e9559
14:102466620 DYNC1H1 C>T	14	102466620	102466620	C	T	DYNC1H1	c.3961-3C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102466620C>T	VUS	1 lab	4544430499
12:31255263 DDX11 G>A	12	31255263	31255263	G	A	DDX11	c.2271+18G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31255263G>A	(Likely) benign	1 lab	45eb276034
8:145112426 OPLAH G>T	8	145112426	145112426	G	T	OPLAH	c.1347C>A	NM_017570.5	NP_060040.1:p.(Ser449Arg)	NC_000008.10:g.145112426G>T	VUS	1 lab	45479d75a2
17:45041094 GOSR2 T>C	17	45041094	45041094	T	C	GOSR2	c.584-2806T>C	NM_001321133.2	NP_001308062.1:p.?	NC_000017.10:g.45041094T>C	(Likely) benign	1 lab	4549c23c80
16:3843609 CREBBP C>T	16	3843609	3843609	C	T	CREBBP	c.994G>A	NM_004380.3	NP_004371.2:p.(Val332Met)	NC_000016.9:g.3843609C>T	VUS	1 lab	45532dcadd
7:94038886 COL1A2 G>A	7	94038886	94038886	G	A	COL1A2	c.902G>A	NM_000089.4	NP_000080.2:p.(Gly301Glu)	NC_000007.13:g.94038886G>A	(Likely) pathogenic	1 lab	4554f87e8b
6:15487544 JARID2 A>G	6	15487544	15487544	A	G	JARID2	c.677A>G	NM_004973.4	NP_004964.2:p.(Asn226Ser)	NC_000006.11:g.15487544A>G	(Likely) benign	1 lab	4556f26693
12:9258821 A2M A>G	12	9258821	9258821	A	G	A2M	c.1104+11T>C	NM_000014.6	NP_000005.3:p.?	NC_000012.11:g.9258821A>G	(Likely) benign	1 lab	455e6bc6c3
3:129275971 PLXND1 C>T	3	129275971	129275971	C	T	PLXND1	c.5541G>A	NM_015103.3	NP_055918.3:p.(Pro1847=)	NC_000003.11:g.129275971C>T	(Likely) benign	1 lab	4564665cb4
22:50678643 TUBGCP6 G>A	22	50678643	50678643	G	A	TUBGCP6	c.895C>T	NM_020461.4	NP_065194.3:p.(Arg299Ter)	NC_000022.10:g.50678643G>A	(Likely) pathogenic	1 lab	456908df01
10:76744999 KAT6B G>A	10	76744999	76744999	G	A	KAT6B	c.2535G>A	NM_012330.4	NP_036462.2:p.(Lys845=)	NC_000010.10:g.76744999G>A	(Likely) pathogenic	1 lab	456c0a1b67
10:121411342 BAG3 C>T	10	121411342	121411342	C	T	BAG3	c.155C>T	NM_004281.4	NP_004272.2:p.(Pro52Leu)	NC_000010.10:g.121411342C>T	VUS	1 lab	456e4e1360
3:48627916 COL7A1 G>T	3	48627916	48627916	G	T	COL7A1	c.1882C>A	NM_000094.4	NP_000085.1:p.(Arg628=)	NC_000003.11:g.48627916G>T	(Likely) benign	1 lab	456ead870a
16:81301551 BCO1 G>T	16	81301551	81301551	G	T	BCO1	c.658G>T	NM_017429.3	NP_059125.2:p.(Glu220Ter)	NC_000016.9:g.81301551G>T	VUS	1 lab	457383e179
16:2135008 TSC2 C>G	16	2135008	2135008	C	G	TSC2	c.4550C>G	NM_000548.5	NP_000539.2:p.(Pro1517Arg)	NC_000016.9:g.2135008C>G	VUS	1 lab	4574627c1b
17:63534429 AXIN2 G>C	17	63534429	63534429	G	C	AXIN2	c.1092C>G	NM_004655.4	NP_004646.3:p.(Pro364=)	NC_000017.10:g.63534429G>C	(Likely) benign	1 lab	45781c6c52
5:139493895 PURA T>TGGC	5	139493895	139493912	T	TGGC	PURA	c.144_146dup	NM_005859.5	NP_005850.1:p.(Gly49dup)	NC_000005.9:g.139493910_139493912dup	(Likely) benign	1 lab	457eae7ad4
10:75936611 ADK C>T	10	75936611	75936611	C	T	ADK	c.-20C>T	NM_001123.4	NP_001114.2:p.?	NC_000010.10:g.75936611C>T	(Likely) benign	1 lab	457eb784a0
1:206944256 IL10 C>T	1	206944256	206944256	C	T	IL10	c.374G>A	NM_000572.3	NP_000563.1:p.(Arg125His)	NC_000001.10:g.206944256C>T	VUS	1 lab	4583b9bde1
17:38978680 KRT10 C>T	17	38978680	38978680	C	T	KRT10	c.158G>A	NM_000421.5	NP_000412.4:p.(Ser53Asn)	NC_000017.10:g.38978680C>T	VUS	1 lab	4588155379
5:131066577 FNIP1 A>C	5	131066577	131066577	A	C	FNIP1	c.354+20T>G	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.131066577A>C	(Likely) benign	1 lab	4589d92ba2
X:31241133 DMD T>G	X	31241133	31241133	T	G	DMD	c.9361+31A>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31241133T>G	(Likely) benign	1 lab	458a4e5c6a
3:123376066 MYLK C>T	3	123376066	123376066	C	T	MYLK	c.4195G>A	NM_053025.4	NP_444253.3:p.(Glu1399Lys)	NC_000003.11:g.123376066C>T	VUS	1 lab	458b1d94bd
8:2044124 MYOM2 C>G	8	2044124	2044124	C	G	MYOM2	c.2163C>G	NM_003970.4	NP_003961.3:p.(Asn721Lys)	NC_000008.10:g.2044124C>G	VUS	1 lab	458dbae5a2
4:183714864 TENM3 A>T	4	183714864	183714864	A	T	TENM3	c.7039A>T	NM_001080477.4	NP_001073946.1:p.(Thr2347Ser)	NC_000004.11:g.183714864A>T	VUS	1 lab	4590f08200
10:43608353 RET C>T	10	43608353	43608353	C	T	RET	c.1701C>T	NM_020975.6	NP_066124.1:p.(Asp567=)	NC_000010.10:g.43608353C>T	(Likely) benign	1 lab	4594624b92
19:48205413 BICRA G>A	19	48205413	48205413	G	A	BICRA	c.4424G>A	NM_015711.3	NP_056526.3:p.(Arg1475His)	NC_000019.9:g.48205413G>A	(Likely) benign	1 lab	459aecaa5b
3:155282851 PLCH1 C>T	3	155282851	155282851	C	T	PLCH1	c.886G>A	NM_001130960.2	NP_001124432.1:p.(Glu296Lys)	NC_000003.11:g.155282851C>T	VUS	1 lab	459bb19415
4:15529167 CC2D2A C>T	4	15529167	15529167	C	T	CC2D2A	c.1247C>T	NM_001080522.2	NP_001073991.2:p.(Thr416Ile)	NC_000004.11:g.15529167C>T	VUS	1 lab	459bcb18af
3:14180800 TMEM43 AG>A	3	14180800	14180802	AG	A	TMEM43	c.1000+5del	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14180802del	VUS	1 lab	459fabd4d5
2:170163868 LRP2 T>C	2	170163868	170163868	T	C	LRP2	c.350A>G	NM_004525.3	NP_004516.2:p.(Asn117Ser)	NC_000002.11:g.170163868T>C	VUS	1 lab	45a2366c2d
7:99367392 CYP3A4 C>G	7	99367392	99367392	C	G	CYP3A4	c.520G>C	NM_017460.6	NP_059488.2:p.(Asp174His)	NC_000007.13:g.99367392C>G	(Likely) benign	1 lab	45a84a98d5
12:111351036 MYL2 C>T	12	111351036	111351036	C	T	MYL2	c.353+14G>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351036C>T	(Likely) benign	1 lab	45aa728718
9:2039797 SMARCA2 GCAGCAGCAGCAGCAGCAGCAA>G	9	2039797	2039825	GCAGCAGCAGCAGCAGCAGCAA	G	SMARCA2	c.695_715del	NM_003070.5	NP_003061.3:p.(Gln232_Gln238del)	NC_000009.11:g.2039805_2039825del	(Likely) benign	1 lab	45ad28b717
2:145187467 ZEB2 T>C	2	145187467	145187467	T	C	ZEB2	c.200A>G	NM_014795.4	NP_055610.1:p.(Asn67Ser)	NC_000002.11:g.145187467T>C	VUS	1 lab	45ae4f2951
21:47545457 COL6A2 C>T	21	47545457	47545457	C	T	COL6A2	c.1895C>T	NM_001849.4	NP_001840.3:p.(Thr632Ile)	NC_000021.8:g.47545457C>T	VUS	1 lab	45ae955ca8
1:92193262 TGFBR3 T>C	1	92193262	92193262	T	C	TGFBR3	c.839A>G	NM_003243.5	NP_003234.2:p.(Asn280Ser)	NC_000001.10:g.92193262T>C	VUS	1 lab	45affa551d
13:31803396 B3GLCT AAAAG>A	13	31803396	31803400	AAAAG	A	B3GLCT	c.236_239del	NM_194318.4	NP_919299.3:p.(Lys79ThrfsTer3)	NC_000013.10:g.31803397_31803400del	(Likely) pathogenic	1 lab	45b27a8f82
9:36217481 GNE G>A	9	36217481	36217481	G	A	GNE	c.2143C>T	NM_001128227.3	NP_001121699.1:p.(Arg715Cys)	NC_000009.11:g.36217481G>A	VUS	1 lab	45b36db3fe
22:42605763 TCF20 T>C	22	42605763	42605763	T	C	TCF20	c.5549A>G	NM_005650.4	NP_005641.1:p.(Asn1850Ser)	NC_000022.10:g.42605763T>C	VUS	1 lab	45b434b7c0
9:140918120 CACNA1B G>C	9	140918120	140918120	G	C	CACNA1B	c.2925G>C	NM_000718.4	NP_000709.1:p.(Pro975=)	NC_000009.11:g.140918120G>C	(Likely) benign	1 lab	45b7e2022d
12:133084736 FBRSL1 C>G	12	133084736	133084736	C	G	FBRSL1	c.292-3C>G	NM_001382741.1	NP_001369670.1:p.?	NC_000012.11:g.133084736C>G	(Likely) benign	1 lab	45be5177c4
1:40349148 TRIT1 C>T	1	40349148	40349148	C	T	TRIT1	c.16G>A	NM_017646.6	NP_060116.2:p.(Ala6Thr)	NC_000001.10:g.40349148C>T	VUS	1 lab	45c2fff2d2
15:99465391 IGF1R G>A	15	99465391	99465391	G	A	IGF1R	c.2216G>A	NM_000875.5	NP_000866.1:p.(Arg739Gln)	NC_000015.9:g.99465391G>A	(Likely) pathogenic	1 lab	45c34e2c39
2:179422889 TTN A>C	2	179422889	179422889	A	C	TTN	c.87192T>G	NM_001267550.2	NP_001254479.2:p.(Val29064=)	NC_000002.11:g.179422889A>C	(Likely) benign	1 lab	45c3cd9b0a
17:39728000 KRT9 C>T	17	39728000	39728000	C	T	KRT9	c.245G>A	NM_000226.4	NP_000217.2:p.(Ser82Asn)	NC_000017.10:g.39728000C>T	(Likely) benign	1 lab	45c8477557
16:89838078 FANCA A>G	16	89838078	89838078	A	G	FANCA	c.2151+8T>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89838078A>G	(Likely) benign	1 lab	45cba3da2e
7:83031950 SEMA3E A>G	7	83031950	83031950	A	G	SEMA3E	c.1141T>C	NM_012431.3	NP_036563.1:p.(Ser381Pro)	NC_000007.13:g.83031950A>G	VUS	1 lab	45ce0fb09e
6:90660090 BACH2 T>C	6	90660090	90660090	T	C	BACH2	c.1735A>G	NM_021813.4	NP_068585.1:p.(Ile579Val)	NC_000006.11:g.90660090T>C	(Likely) benign	1 lab	45d2bd8bf5
19:621174 POLRMT T>G	19	621174	621174	T	G	POLRMT	c.2524A>C	NM_005035.4	NP_005026.3:p.(Lys842Gln)	NC_000019.9:g.621174T>G	VUS	1 lab	45d3a85c59
6:43581662 POLH C>T	6	43581662	43581662	C	T	POLH	c.1510C>T	NM_006502.3	NP_006493.1:p.(Pro504Ser)	NC_000006.11:g.43581662C>T	VUS	1 lab	45da117b14
6:79679595 PHIP CA>C	6	79679595	79679597	CA	C	PHIP	c.3161del	NM_017934.7	NP_060404.4:p.(Leu1054Ter)	NC_000006.11:g.79679597del	(Likely) pathogenic	1 lab	45e2b386df
12:52913554 KRT5 T>C	12	52913554	52913554	T	C	KRT5	c.527A>G	NM_000424.4	NP_000415.2:p.(Asn176Ser)	NC_000012.11:g.52913554T>C	(Likely) pathogenic	1 lab	45f25c05a0
6:148789688 SASH1 C>G	6	148789688	148789688	C	G	SASH1	c.22C>G	NM_001346506.2	NP_001333435.1:p.(Leu8Val)	NC_000006.11:g.148789688C>G	(Likely) benign	1 lab	45f34f7ddc
10:73447021 CDH23 A>G	10	73447021	73447021	A	G	CDH23	c.1987-383A>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73447021A>G	VUS	1 lab	45f608fe53
X:32404400 DMD G>A	X	32404400	32404400	G	A	DMD	c.4674+27C>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32404400G>A	(Likely) benign	1 lab	45f7bf937d
3:12650412 RAF1 G>A	3	12650412	12650412	G	A	RAF1	c.434C>T	NM_002880.4	NP_002871.1:p.(Thr145Met)	NC_000003.11:g.12650412G>A	VUS	1 lab	45f82ce99f
16:16271357 ABCC6 T>C	16	16271357	16271357	T	C	ABCC6	c.2542A>G	NM_001171.6	NP_001162.5:p.(Met848Val)	NC_000016.9:g.16271357T>C	(Likely) benign	1 lab	45f8ac0115
1:39549884 MACF1 C>T	1	39549884	39549884	C	T	MACF1	c.-7C>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39549884C>T	VUS	1 lab	45ff06650c
6:94120426 EPHA7 T>C	6	94120426	94120426	T	C	EPHA7	c.625A>G	NM_004440.4	NP_004431.1:p.(Ile209Val)	NC_000006.11:g.94120426T>C	VUS	1 lab	45ff5212d9
9:133364791 ASS1 C>T	9	133364791	133364791	C	T	ASS1	c.910C>T	NM_000050.4	NP_000041.2:p.(Arg304Trp)	NC_000009.11:g.133364791C>T	(Likely) pathogenic	1 lab	4600273e95
3:4816935 ITPR1 C>T	3	4816935	4816935	C	T	ITPR1	c.5800C>T	NM_002222.7	NP_002213.5:p.(Arg1934Cys)	NC_000003.11:g.4816935C>T	VUS	1 lab	460e8c776c
12:49434198 KMT2D C>G	12	49434198	49434198	C	G	KMT2D	c.7355G>C	NM_003482.4	NP_003473.3:p.(Arg2452Pro)	NC_000012.11:g.49434198C>G	VUS	1 lab	461166edf6
19:1221946 STK11 A>G	19	1221946	1221946	A	G	STK11	c.863-2A>G	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1221946A>G	(Likely) pathogenic	1 lab	46180b614c
X:24096070 EIF2S3 A>C	X	24096070	24096070	A	C	EIF2S3	c.*1168A>C	NM_001415.4	NP_001406.1:p.?	NC_000023.10:g.24096070A>C	VUS	1 lab	461a1fd550
9:98241403 PTCH1 T>C	9	98241403	98241403	T	C	PTCH1	c.1094A>G	NM_000264.5	NP_000255.2:p.(Gln365Arg)	NC_000009.11:g.98241403T>C	VUS	1 lab	4620df025b
1:183542387 NCF2 T>C	1	183542387	183542387	T	C	NCF2	c.542A>G	NM_000433.4	NP_000424.2:p.(Lys181Arg)	NC_000001.10:g.183542387T>C	(Likely) benign	1 lab	46262359d9
2:179514332 TTN G>C	2	179514332	179514332	G	C	TTN	c.39922C>G	NM_001267550.2	NP_001254479.2:p.(Pro13308Ala)	NC_000002.11:g.179514332G>C	VUS	1 lab	462a69007d
5:127664436 FBN2 C>T	5	127664436	127664436	C	T	FBN2	c.4423G>A	NM_001999.4	NP_001990.2:p.(Glu1475Lys)	NC_000005.9:g.127664436C>T	VUS	1 lab	462d87064c
11:47381538 SPI1 C>T	11	47381538	47381538	C	T	SPI1	c.199G>A	NM_001080547.2	NP_001074016.1:p.(Ala67Thr)	NC_000011.9:g.47381538C>T	VUS	1 lab	462e33b3c0
2:163133289 IFIH1 T>C	2	163133289	163133289	T	C	IFIH1	c.2212A>G	NM_022168.4	NP_071451.2:p.(Ile738Val)	NC_000002.11:g.163133289T>C	VUS	1 lab	462f0cde49
19:17783288 UNC13A C>G	19	17783288	17783288	C	G	UNC13A	c.169G>C	NM_001080421.3	NP_001073890.2:p.(Asp57His)	NC_000019.9:g.17783288C>G	VUS	1 lab	4630ad4efa
1:22207235 HSPG2 T>C	1	22207235	22207235	T	C	HSPG2	c.1912A>G	NM_005529.7	NP_005520.4:p.(Met638Val)	NC_000001.10:g.22207235T>C	(Likely) benign	1 lab	4638855ac7
2:47641555 MSH2 C>T	2	47641555	47641555	C	T	MSH2	c.940C>T	NM_000251.3	NP_000242.1:p.(Gln314Ter)	NC_000002.11:g.47641555C>T	(Likely) pathogenic	1 lab	463aa1bc91
3:142232440 ATR C>T	3	142232440	142232440	C	T	ATR	c.4544G>A	NM_001184.4	NP_001175.2:p.(Ser1515Asn)	NC_000003.11:g.142232440C>T	VUS	1 lab	463daa5dec
19:45858112 ERCC2 G>A	19	45858112	45858112	G	A	ERCC2	c.1544-3C>T	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45858112G>A	(Likely) benign	1 lab	463fa92d83
11:73834083 C2CD3 C>T	11	73834083	73834083	C	T	C2CD3	c.1315G>A	NM_001286577.2	NP_001273506.1:p.(Asp439Asn)	NC_000011.9:g.73834083C>T	VUS	1 lab	46481ad972
3:189582115 TP63 T>C	3	189582115	189582115	T	C	TP63	c.674T>C	NM_003722.5	NP_003713.3:p.(Ile225Thr)	NC_000003.11:g.189582115T>C	VUS	1 lab	46504541c3
19:16989191 SIN3B G>A	19	16989191	16989191	G	A	SIN3B	c.3248G>A	NM_015260.4	NP_056075.1:p.(Arg1083Gln)	NC_000019.9:g.16989191G>A	VUS	1 lab	465192e6ba
14:24572751 PCK2 C>T	14	24572751	24572751	C	T	PCK2	c.1501C>T	NM_004563.4	NP_004554.3:p.(Arg501Trp)	NC_000014.8:g.24572751C>T	VUS	1 lab	465da91239
1:94466643 ABCA4 T>A	1	94466643	94466643	T	A	ABCA4	c.6301A>T	NM_000350.3	NP_000341.2:p.(Met2101Leu)	NC_000001.10:g.94466643T>A	VUS	1 lab	46616096fd
X:153216358 HCFC1 T>C	X	153216358	153216358	T	C	HCFC1	c.5609A>G	NM_005334.3	NP_005325.2:p.(Asn1870Ser)	NC_000023.10:g.153216358T>C	VUS	1 lab	466694da44
16:84212875 TAF1C G>A	16	84212875	84212875	G	A	TAF1C	c.2282C>T	NM_005679.4	NP_005670.4:p.(Ser761Leu)	NC_000016.9:g.84212875G>A	(Likely) benign	1 lab	4666c80bc0
2:145157792 ZEB2 TG>T	2	145157792	145157795	TG	T	ZEB2	c.961del	NM_014795.4	NP_055610.1:p.(His321IlefsTer17)	NC_000002.11:g.145157795del	(Likely) pathogenic	1 lab	4666c88311
14:64675559 SYNE2 TG>T	14	64675559	64675560	TG	T	SYNE2	c.18286del	NM_182914.3	NP_878918.2:p.(Ala6096ProfsTer34)	NC_000014.8:g.64675560del	VUS	1 lab	466a31ac9f
9:98248148 PTCH1 G>A	9	98248148	98248148	G	A	PTCH1	c.403C>T	NM_000264.5	NP_000255.2:p.(Arg135Ter)	NC_000009.11:g.98248148G>A	(Likely) pathogenic	1 lab	466b5f5c5c
1:74716456 TNNI3K A>C	1	74716456	74716456	A	C	TNNI3K	c.333+3A>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74716456A>C	VUS	1 lab	466ef89333
1:8419928 RERE G>A	1	8419928	8419928	G	A	RERE	c.3514C>T	NM_012102.4	NP_036234.3:p.(Arg1172Cys)	NC_000001.10:g.8419928G>A	(Likely) benign	1 lab	467058ee25
8:61654575 CHD7 G>C	8	61654575	61654575	G	C	CHD7	c.584G>C	NM_017780.4	NP_060250.2:p.(Arg195Pro)	NC_000008.10:g.61654575G>C	VUS	1 lab	467178d759
7:100491451 ACHE G>C	7	100491451	100491451	G	C	ACHE	c.403C>G	NM_000665.5	NP_000656.1:p.(Pro135Ala)	NC_000007.13:g.100491451G>C	(Likely) benign	1 lab	4675c098de
12:122287657 HPD A>C	12	122287657	122287657	A	C	HPD	c.454T>G	NM_002150.3	NP_002141.2:p.(Tyr152Asp)	NC_000012.11:g.122287657A>C	VUS	1 lab	4676b4c7dd
6:170871054 TBP AGCAGCAG>A	6	170871054	170871061	AGCAGCAG	A	TBP	c.231_237del	NM_003194.5	NP_003185.1:p.(Gln77HisfsTer65)	NC_000006.11:g.170871055_170871061del	(Likely) benign	1 lab	4679722a7f
19:2431810 LMNB2 G>A	19	2431810	2431810	G	A	LMNB2	c.1681C>T	NM_032737.4	NP_116126.3:p.(Arg561Cys)	NC_000019.9:g.2431810G>A	VUS	1 lab	4679898272
1:154842199 KCNN3 G>GGCT	1	154842199	154842242	G	GGCT	KCNN3	c.239_241dup	NM_002249.6	NP_002240.3:p.(Gln80dup)	NC_000001.10:g.154842240_154842242dup	(Likely) benign	1 lab	467acbb865
16:28913897 ATP2A1 A>G	16	28913897	28913897	A	G	ATP2A1	c.2525-4A>G	NM_173201.5	NP_775293.1:p.?	NC_000016.9:g.28913897A>G	(Likely) benign	1 lab	467bbff5cb
5:112175286 APC CCAAATCCAGCAGA>C	5	112175286	112175300	CCAAATCCAGCAGA	C	APC	c.3997_4009del	NM_000038.6	NP_000029.2:p.(Lys1333CysfsTer78)	NC_000005.9:g.112175288_112175300del	(Likely) pathogenic	1 lab	467d40f236
22:21340191 LZTR1 G>T	22	21340191	21340191	G	T	LZTR1	c.320+5G>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21340191G>T	VUS	1 lab	468169df68
6:29641440 ZFP57 G>A	6	29641440	29641440	G	A	ZFP57	c.448C>T	NM_001109809.5	NP_001103279.2:p.(Gln150Ter)	NC_000006.11:g.29641440G>A	(Likely) pathogenic	1 lab	4684aa6f7d
2:179483129 TTN C>A	2	179483129	179483129	C	A	TTN	c.47056G>T	NM_001267550.2	NP_001254479.2:p.(Gly15686Ter)	NC_000002.11:g.179483129C>A	(Likely) pathogenic	1 lab	468740a6d4
X:47002032 NDUFB11 C>T	X	47002032	47002032	C	T	NDUFB11	c.319G>A	NM_019056.7	NP_061929.2:p.(Ala107Thr)	NC_000023.10:g.47002032C>T	VUS	1 lab	468d1b82ca
16:71604644 TAT C>G	16	71604644	71604644	C	G	TAT	c.850G>C	NM_000353.3	NP_000344.1:p.(Val284Leu)	NC_000016.9:g.71604644C>G	VUS	1 lab	4693e968e9
2:152527572 NEB C>T	2	152527572	152527572	C	T	NEB	c.4471G>A	NM_001271208.2	NP_001258137.2:p.(Val1491Met)	NC_000002.11:g.152527572C>T	(Likely) benign	1 lab	4698ad238a
6:31977493 TNXA C>T	6	31977493	31977493	C	T	TNXA	n.2064+5G>A	NR_001284.2		NC_000006.11:g.31977493C>T	(Likely) benign	1 lab	469e702fb7
2:202593806 ALS2 C>T	2	202593806	202593806	C	T	ALS2	c.2681G>A	NM_020919.4	NP_065970.2:p.(Gly894Asp)	NC_000002.11:g.202593806C>T	VUS	1 lab	469f45c165
7:83023587 SEMA3E TAC>T	7	83023587	83023604	TAC	T	SEMA3E	c.1500+24_1500+25del	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83023603_83023604del	(Likely) benign	1 lab	46a4d91ecb
2:44200967 LRPPRC T>G	2	44200967	44200967	T	G	LRPPRC	c.1228A>C	NM_133259.4	NP_573566.2:p.(Thr410Pro)	NC_000002.11:g.44200967T>G	(Likely) benign	1 lab	46ab9de565
10:112572348 RBM20 G>T	10	112572348	112572348	G	T	RBM20	c.2193G>T	NM_001134363.3	NP_001127835.2:p.(Arg731Ser)	NC_000010.10:g.112572348G>T	VUS	1 lab	46adacf74d
9:2116002 SMARCA2 C>T	9	2116002	2116002	C	T	SMARCA2	c.3637C>T	NM_003070.5	NP_003061.3:p.(Arg1213Trp)	NC_000009.11:g.2116002C>T	(Likely) pathogenic	1 lab	46aeda4207
2:179474707 TTN G>C	2	179474707	179474707	G	C	TTN	c.51443C>G	NM_001267550.2	NP_001254479.2:p.(Pro17148Arg)	NC_000002.11:g.179474707G>C	VUS	1 lab	46b0fc50db
20:2847106 VPS16 C>G	20	2847106	2847106	C	G	VPS16	c.2406C>G	NM_022575.4	NP_072097.2:p.(Ile802Met)	NC_000020.10:g.2847106C>G	(Likely) benign	1 lab	46b61d3f70
9:418091 DOCK8 A>T	9	418091	418091	A	T	DOCK8	c.3724A>T	NM_203447.4	NP_982272.2:p.(Thr1242Ser)	NC_000009.11:g.418091A>T	(Likely) benign	1 lab	46b7d766b0
6:111913040 TRAF3IP2 G>A	6	111913040	111913040	G	A	TRAF3IP2	c.250C>T	NM_147686.4	NP_679211.2:p.(Arg84Cys)	NC_000006.11:g.111913040G>A	VUS	1 lab	46bb39db2f
18:34298431 FHOD3 C>T	18	34298431	34298431	C	T	FHOD3	c.2645C>T	NM_025135.5	NP_079411.2:p.(Pro882Leu)	NC_000018.9:g.34298431C>T	VUS	1 lab	46bb7612b0
11:95718775 MAML2 C>T	11	95718775	95718775	C	T	MAML2	c.2375G>A	NM_032427.4	NP_115803.1:p.(Arg792Gln)	NC_000011.9:g.95718775C>T	VUS	1 lab	46bbbe5ec6
13:101944627 NALCN C>T	13	101944627	101944627	C	T	NALCN	c.890G>A	NM_052867.4	NP_443099.1:p.(Arg297His)	NC_000013.10:g.101944627C>T	VUS	1 lab	46bd358b18
14:88400353 GALC C>T	14	88400353	88400353	C	T	GALC	c.*723G>A	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88400353C>T	(Likely) benign	1 lab	46be4329f2
17:59479120 TBX2 T>G	17	59479120	59479120	T	G	TBX2	c.471T>G	NM_005994.4	NP_005985.3:p.(Ile157Met)	NC_000017.10:g.59479120T>G	VUS	1 lab	46c01245a4
7:128484100 FLNC G>A	7	128484100	128484100	G	A	FLNC	c.2972G>A	NM_001458.5	NP_001449.3:p.(Arg991Gln)	NC_000007.13:g.128484100G>A	VUS	1 lab	46cac0b88e
5:128984594 ADAMTS19 T>C	5	128984594	128984594	T	C	ADAMTS19	c.2107T>C	NM_133638.6	NP_598377.4:p.(Cys703Arg)	NC_000005.9:g.128984594T>C	VUS	1 lab	46cfee5d81
7:73935595 GTF2IRD1 G>A	7	73935595	73935595	G	A	GTF2IRD1	c.974G>A	NM_016328.3	NP_057412.1:p.(Arg325His)	NC_000007.13:g.73935595G>A	VUS	1 lab	46d342d5a9
2:46609184 EPAS1 G>A	2	46609184	46609184	G	A	EPAS1	c.2243G>A	NM_001430.5	NP_001421.2:p.(Cys748Tyr)	NC_000002.11:g.46609184G>A	VUS	1 lab	46d7f342eb
8:144997354 PLEC T>G	8	144997354	144997354	T	G	PLEC	c.7154A>C	NM_201380.4	NP_958782.1:p.(Glu2385Ala)	NC_000008.10:g.144997354T>G	VUS	1 lab	46e14f1ca9
2:171709291 GAD1 G>T	2	171709291	171709291	G	T	GAD1	c.1252G>T	NM_000817.3	NP_000808.2:p.(Val418Phe)	NC_000002.11:g.171709291G>T	VUS	1 lab	46e1ff82ca
17:10431059 MYH2 A>G	17	10431059	10431059	A	G	MYH2	c.3871+6T>C	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10431059A>G	(Likely) benign	1 lab	46e20710a1
3:57368883 DNAH12 G>A	3	57368883	57368883	G	A	DNAH12	c.9760C>T	NM_001366028.2	NP_001352957.1:p.(Pro3254Ser)	NC_000003.11:g.57368883G>A	VUS	1 lab	46e3116630
11:111784258 CRYAB G>A	11	111784258	111784258	G	A	CRYAB	c.-198-1612C>T	NM_001368245.1	NP_001355174.1:p.?	NC_000011.9:g.111784258G>A	(Likely) benign	1 lab	46e39cd132
13:48955538 RB1 C>T	13	48955538	48955538	C	T	RB1	c.1654C>T	NM_000321.3	NP_000312.2:p.(Arg552Ter)	NC_000013.10:g.48955538C>T	(Likely) pathogenic	1 lab	46e51766c2
20:10632902 JAG1 C>T	20	10632902	10632902	C	T	JAG1	c.887-4G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10632902C>T	(Likely) benign	1 lab	46e99a1828
8:144996079 PLEC G>A	8	144996079	144996079	G	A	PLEC	c.7991C>T	NM_000445.5	NP_000436.2:p.(Ala2664Val)	NC_000008.10:g.144996079G>A	VUS	1 lab	46edf0938b
2:145187447 ZEB2 C>T	2	145187447	145187447	C	T	ZEB2	c.220G>A	NM_014795.4	NP_055610.1:p.(Val74Met)	NC_000002.11:g.145187447C>T	(Likely) benign	1 lab	46f5c5ef98
7:99355199 CYP3A4 C>T	7	99355199	99355199	C	T	CYP3A4	c.*557G>A	NM_017460.6	NP_059488.2:p.?	NC_000007.13:g.99355199C>T	VUS	1 lab	46f8a15370
12:57432194 MYO1A A>C	12	57432194	57432194	A	C	MYO1A	c.1760+2T>G	NM_005379.4	NP_005370.1:p.?	NC_000012.11:g.57432194A>C	VUS	1 lab	470006616c
18:11864569 GNAL T>C	18	11864569	11864569	T	C	GNAL	c.584T>C	NM_001142339.3	NP_001135811.1:p.(Phe195Ser)	NC_000018.9:g.11864569T>C	VUS	1 lab	470a3d5627
X:20204461 RPS6KA3 G>T	X	20204461	20204461	G	T	RPS6KA3	c.798C>A	NM_004586.3	NP_004577.1:p.(Leu266=)	NC_000023.10:g.20204461G>T	(Likely) benign	1 lab	470a760620
6:29912333 HLA-A C>T	6	29912333	29912333	C	T	HLA-A	c.952C>T	NM_002116.8	NP_002107.3:p.(Leu318Phe)	NC_000006.11:g.29912333C>T	(Likely) benign	1 lab	4717c77168
12:52862869 KRT6C TGGA>T	12	52862869	52862880	TGGA	T	KRT6C	c.1669_1671del	NM_173086.5	NP_775109.2:p.(Ser558del)	NC_000012.11:g.52862878_52862880del	(Likely) benign	1 lab	47191a34d6
19:5692207 LONP1 C>A	19	5692207	5692207	C	A	LONP1	c.2716G>T	NM_004793.4	NP_004784.2:p.(Gly906Trp)	NC_000019.9:g.5692207C>A	VUS	1 lab	471a99aa62
2:179644761 TTN T>A	2	179644761	179644761	T	A	TTN	c.3695A>T	NM_001267550.2	NP_001254479.2:p.(Asp1232Val)	NC_000002.11:g.179644761T>A	VUS	1 lab	471e09a88c
22:26860269 HPS4 G>C	22	26860269	26860269	G	C	HPS4	c.1327C>G	NM_022081.6	NP_071364.4:p.(Leu443Val)	NC_000022.10:g.26860269G>C	(Likely) benign	1 lab	47206f6a6a
2:138771586 HNMT AC>A	2	138771586	138771588	AC	A	HNMT	c.767del	NM_006895.3	NP_008826.1:p.(Pro256LeufsTer30)	NC_000002.11:g.138771588del	VUS	1 lab	472463a40b
6:31978470 TNXA G>C	6	31978470	31978470	G	C	TNXA	n.1504+10C>G	NR_001284.2		NC_000006.11:g.31978470G>C	(Likely) benign	1 lab	4728093788
12:49422900 KMT2D T>C	12	49422900	49422900	T	C	KMT2D	c.14195A>G	NM_003482.4	NP_003473.3:p.(Gln4732Arg)	NC_000012.11:g.49422900T>C	VUS	1 lab	4728abe6d6
11:22249103 ANO5 T>G	11	22249103	22249103	T	G	ANO5	c.619T>G	NM_213599.3	NP_998764.1:p.(Phe207Val)	NC_000011.9:g.22249103T>G	VUS	1 lab	4728bde05e
X:153215839 HCFC1 G>A	X	153215839	153215839	G	A	HCFC1	c.5859C>T	NM_005334.3	NP_005325.2:p.(Cys1953=)	NC_000023.10:g.153215839G>A	(Likely) benign	1 lab	47348acd6b
8:41550372 ANK1 G>A	8	41550372	41550372	G	A	ANK1	c.3775C>T	NM_001142446.2	NP_001135918.1:p.(Arg1259Trp)	NC_000008.10:g.41550372G>A	VUS	1 lab	4735524578
1:120458680 NOTCH2 C>G	1	120458680	120458680	C	G	NOTCH2	c.6665G>C	NM_024408.4	NP_077719.2:p.(Ser2222Thr)	NC_000001.10:g.120458680C>G	VUS	1 lab	473572bfdd
22:41564708 EP300 C>A	22	41564708	41564708	C	A	EP300	c.4026-17C>A	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41564708C>A	(Likely) benign	1 lab	473620919e
15:72642919 HEXA G>A	15	72642919	72642919	G	A	HEXA	c.745C>T	NM_000520.6	NP_000511.2:p.(Arg249Trp)	NC_000015.9:g.72642919G>A	(Likely) pathogenic	1 lab	4736c62805
10:75849850 VCL C>T	10	75849850	75849850	C	T	VCL	c.1246C>T	NM_014000.3	NP_054706.1:p.(Arg416Trp)	NC_000010.10:g.75849850C>T	VUS	1 lab	473c172728
9:91943671 SECISBP2 C>T	9	91943671	91943671	C	T	SECISBP2	c.671C>T	NM_024077.5	NP_076982.3:p.(Pro224Leu)	NC_000009.11:g.91943671C>T	VUS	1 lab	473cb36d3f
16:3788618 CREBBP G>A	16	3788618	3788618	G	A	CREBBP	c.4336C>T	NM_004380.3	NP_004371.2:p.(Arg1446Cys)	NC_000016.9:g.3788618G>A	(Likely) pathogenic	1 lab	4742f65a53
19:11097600 SMARCA4 G>A	19	11097600	11097600	G	A	SMARCA4	c.780G>A	NM_001128849.3	NP_001122321.1:p.(Met260Ile)	NC_000019.9:g.11097600G>A	VUS	1 lab	474915e844
12:53072477 KRT1 C>A	12	53072477	53072477	C	A	KRT1	c.655G>T	NM_006121.4	NP_006112.3:p.(Asp219Tyr)	NC_000012.11:g.53072477C>A	VUS	1 lab	474fdd778d
1:7811407 CAMTA1 G>A	1	7811407	7811407	G	A	CAMTA1	c.4838G>A	NM_015215.4	NP_056030.1:p.(Arg1613Lys)	NC_000001.10:g.7811407G>A	VUS	1 lab	4752ca521e
15:27184517 GABRA5 G>A	15	27184517	27184517	G	A	GABRA5	c.725-555G>A	NM_000810.4	NP_000801.1:p.?	NC_000015.9:g.27184517G>A	(Likely) benign	1 lab	4757801d1e
6:36652305 CDKN1A C>T	6	36652305	36652305	C	T	CDKN1A	c.427C>T	NM_078467.3	NP_510867.1:p.(Arg143Trp)	NC_000006.11:g.36652305C>T	VUS	1 lab	4759caa056
12:49447401 KMT2D C>CA	12	49447401	49447402	C	CA	KMT2D	c.696dup	NM_003482.4	NP_003473.3:p.(Glu233Ter)	NC_000012.11:g.49447402dup	(Likely) pathogenic	1 lab	4759f74b8b
X:107381208 ATG4A T>C	X	107381208	107381208	T	C	ATG4A	c.722T>C	NM_052936.5	NP_443168.2:p.(Val241Ala)	NC_000023.10:g.107381208T>C	(Likely) benign	1 lab	4760e232f5
10:30615385 MTPAP G>A	10	30615385	30615385	G	A	MTPAP	c.960C>T	NM_018109.4	NP_060579.3:p.(Ser320=)	NC_000010.10:g.30615385G>A	(Likely) benign	1 lab	4762ddbfc8
9:968008 DMRT1 G>C	9	968008	968008	G	C	DMRT1	c.991G>C	NM_021951.3	NP_068770.2:p.(Asp331His)	NC_000009.11:g.968008G>C	VUS	1 lab	4766148649
8:145112538 OPLAH G>A	8	145112538	145112538	G	A	OPLAH	c.1235C>T	NM_017570.5	NP_060040.1:p.(Pro412Leu)	NC_000008.10:g.145112538G>A	VUS	1 lab	476c525be4
7:150704235 NOS3 C>T	7	150704235	150704235	C	T	NOS3	c.1983C>T	NM_000603.5	NP_000594.2:p.(Cys661=)	NC_000007.13:g.150704235C>T	(Likely) benign	1 lab	476daf7d3e
19:36224176 KMT2B G>GCTGCCCGTGGTCGGAGTGGTCCGCC	19	36224176	36224207	G	GCTGCCCGTGGTCGGAGTGGTCCGCC	KMT2B	c.6733_6757dup	NM_014727.3	NP_055542.1:p.(Pro2253ArgfsTer58)	NC_000019.9:g.36224183_36224207dup	(Likely) pathogenic	1 lab	47719869f0
13:32914882 BRCA2 TA>T	13	32914882	32914885	TA	T	BRCA2	c.6393del	NM_000059.4	NP_000050.3:p.(Lys2131AsnfsTer6)	NC_000013.10:g.32914885del	(Likely) pathogenic	1 lab	4774dd94dd
7:150642476 KCNH2 G>A	7	150642476	150642476	G	A	KCNH2	c.3457C>T	NM_000238.4	NP_000229.1:p.(His1153Tyr)	NC_000007.13:g.150642476G>A	VUS	1 lab	477ef3255b
2:191851798 STAT1 C>CA	2	191851798	191851806	C	CA	STAT1	c.1098-5dup	NM_007315.4	NP_009330.1:p.?	NC_000002.11:g.191851806dup	VUS	1 lab	477f4d59c4
6:42936628 PEX6 C>G	6	42936628	42936628	C	G	PEX6	c.1463G>C	NM_000287.4	NP_000278.3:p.(Gly488Ala)	NC_000006.11:g.42936628C>G	VUS	1 lab	47817fc9fd
22:36718543 MYH9 C>T	22	36718543	36718543	C	T	MYH9	c.636G>A	NM_002473.6	NP_002464.1:p.(Leu212=)	NC_000022.10:g.36718543C>T	(Likely) benign	1 lab	47863c32a5
9:38396877 ALDH1B1 C>T	9	38396877	38396877	C	T	ALDH1B1	c.1132C>T	NM_000692.5	NP_000683.3:p.(Gln378Ter)	NC_000009.11:g.38396877C>T	VUS	1 lab	4786dc8db3
11:112099294 PTS CT>C	11	112099294	112099310	CT	C	PTS	c.84-7del	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099310del	(Likely) benign	1 lab	4786f3a5bd
7:128497237 FLNC G>C	7	128497237	128497237	G	C	FLNC	c.7627G>C	NM_001458.5	NP_001449.3:p.(Asp2543His)	NC_000007.13:g.128497237G>C	VUS	1 lab	4788d85188
12:53045777 KRT2 G>A	12	53045777	53045777	G	A	KRT2	c.150C>T	NM_000423.3	NP_000414.2:p.(Gly50=)	NC_000012.11:g.53045777G>A	(Likely) benign	1 lab	48ba67f224
10:72195191 NODAL G>A	10	72195191	72195191	G	A	NODAL	c.742C>T	NM_018055.5	NP_060525.3:p.(Arg248Trp)	NC_000010.10:g.72195191G>A	VUS	1 lab	478ea903ee
12:7171619 C1S G>A	12	7171619	7171619	G	A	C1S	c.440G>A	NM_201442.4	NP_958850.1:p.(Cys147Tyr)	NC_000012.11:g.7171619G>A	VUS	1 lab	4791215622
7:128483368 FLNC G>A	7	128483368	128483368	G	A	FLNC	c.2636G>A	NM_001458.5	NP_001449.3:p.(Arg879His)	NC_000007.13:g.128483368G>A	(Likely) benign	1 lab	4792e54044
18:2920830 LPIN2 G>A	18	2920830	2920830	G	A	LPIN2	c.2492C>T	NM_014646.2	NP_055461.1:p.(Thr831Ile)	NC_000018.9:g.2920830G>A	VUS	1 lab	4794dbe56e
12:125470638 DHX37 G>A	12	125470638	125470638	G	A	DHX37	c.276+4C>T	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125470638G>A	(Likely) benign	1 lab	4797263837
1:8418654 RERE ATCTCC>A	1	8418654	8418659	ATCTCC	A	RERE	c.3936_3940del	NM_012102.4	NP_036234.3:p.(Glu1313ProfsTer80)	NC_000001.10:g.8418655_8418659del	VUS	1 lab	47a088b7f4
2:179441811 TTN C>T	2	179441811	179441811	C	T	TTN	c.69251G>A	NM_001267550.2	NP_001254479.2:p.(Arg23084Gln)	NC_000002.11:g.179441811C>T	VUS	1 lab	47a9153f0c
15:85383903 ALPK3 C>A	15	85383903	85383903	C	A	ALPK3	c.1393C>A	NM_020778.5	NP_065829.4:p.(Gln465Lys)	NC_000015.9:g.85383903C>A	VUS	1 lab	47aa1259f2
12:13768479 GRIN2B T>C	12	13768479	13768479	T	C	GRIN2B	c.1448A>G	NM_000834.5	NP_000825.2:p.(Asn483Ser)	NC_000012.11:g.13768479T>C	VUS	1 lab	47ae406128
15:44952768 SPG11 G>A	15	44952768	44952768	G	A	SPG11	c.304C>T	NM_025137.4	NP_079413.3:p.(Pro102Ser)	NC_000015.9:g.44952768G>A	VUS	1 lab	47b18dc9f5
14:75483812 MLH3 T>C	14	75483812	75483812	T	C	MLH3	c.4335A>G	NM_001040108.2	NP_001035197.1:p.(Gln1445=)	NC_000014.8:g.75483812T>C	(Likely) benign	1 lab	47b9468a47
6:5369312 FARS2 C>G	6	5369312	5369312	C	G	FARS2	c.509C>G	NM_006567.5	NP_006558.1:p.(Ala170Gly)	NC_000006.11:g.5369312C>G	VUS	1 lab	47bb5b7374
X:153641585 TAFAZZIN C>T	X	153641585	153641585	C	T	TAFAZZIN	c.280C>T	NM_000116.5	NP_000107.1:p.(Arg94Cys)	NC_000023.10:g.153641585C>T	(Likely) pathogenic	1 lab	47c334a796
2:11341144 ROCK2 A>T	2	11341144	11341144	A	T	ROCK2	c.2849T>A	NM_004850.5	NP_004841.2:p.(Ile950Asn)	NC_000002.11:g.11341144A>T	VUS	1 lab	47cb40edbb
10:31803516 ZEB1 G>A	10	31803516	31803516	G	A	ZEB1	c.637-15G>A	NM_001128128.3	NP_001121600.1:p.?	NC_000010.10:g.31803516G>A	(Likely) benign	1 lab	47d3148529
3:47103777 SETD2 G>A	3	47103777	47103777	G	A	SETD2	c.6169C>T	NM_014159.7	NP_054878.5:p.(Pro2057Ser)	NC_000003.11:g.47103777G>A	(Likely) benign	1 lab	47d6af36ce
4:88996025 PKD2 G>A	4	88996025	88996025	G	A	PKD2	c.2584G>A	NM_000297.4	NP_000288.1:p.(Ala862Thr)	NC_000004.11:g.88996025G>A	VUS	1 lab	47dabe5971
20:30421514 MYLK2 C>T	20	30421514	30421514	C	T	MYLK2	c.1711-6C>T	NM_033118.4	NP_149109.1:p.?	NC_000020.10:g.30421514C>T	(Likely) benign	1 lab	47dd47c967
12:108919390 SART3 T>C	12	108919390	108919390	T	C	SART3	c.2371-4A>G	NM_014706.4	NP_055521.1:p.?	NC_000012.11:g.108919390T>C	(Likely) benign	1 lab	47e3dd406e
12:49434254 KMT2D T>G	12	49434254	49434254	T	G	KMT2D	c.7299A>C	NM_003482.4	NP_003473.3:p.(Glu2433Asp)	NC_000012.11:g.49434254T>G	VUS	1 lab	47e7087081
9:133884910 LAMC3 G>T	9	133884910	133884910	G	T	LAMC3	c.309G>T	NM_006059.4	NP_006050.3:p.(Trp103Cys)	NC_000009.11:g.133884910G>T	VUS	1 lab	47e9e7e5c6
11:47359282 MYBPC3 T>TC	11	47359282	47359283	T	TC	MYBPC3	c.2371_2372insG	NM_000256.3	NP_000247.2:p.(Gln791ArgfsTer42)	NC_000011.9:g.47359282_47359283insC	(Likely) pathogenic	1 lab	47eebeda7b
17:65862800 BPTF A>G	17	65862800	65862800	A	G	BPTF	c.1657A>G	NM_004459.7	NP_004450.3:p.(Asn553Asp)	NC_000017.10:g.65862800A>G	(Likely) benign	1 lab	47f1e69615
17:61498027 TANC2 G>A	17	61498027	61498027	G	A	TANC2	c.4684G>A	NM_025185.4	NP_079461.2:p.(Val1562Met)	NC_000017.10:g.61498027G>A	(Likely) benign	1 lab	47f79526b3
17:65955783 BPTF C>G	17	65955783	65955783	C	G	BPTF	c.8002C>G	NM_004459.7	NP_004450.3:p.(Pro2668Ala)	NC_000017.10:g.65955783C>G	VUS	1 lab	47fec95165
X:153295805 MECP2 G>A	X	153295805	153295805	G	A	MECP2	c.*13C>T	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153295805G>A	VUS	1 lab	4801708d0a
1:45296644 PTCH2 G>A	1	45296644	45296644	G	A	PTCH2	c.689C>T	NM_001166292.2	NP_001159764.1:p.(Ser230Phe)	NC_000001.10:g.45296644G>A	VUS	1 lab	4805b9436a
4:1988027 NELFA G>A	4	1988027	1988027	G	A	NELFA	c.737C>T	NM_005663.5	NP_005654.4:p.(Thr246Met)	NC_000004.11:g.1988027G>A	VUS	1 lab	480f491670
2:219754843 WNT10A A>T	2	219754843	219754843	A	T	WNT10A	c.514A>T	NM_025216.3	NP_079492.2:p.(Arg172Trp)	NC_000002.11:g.219754843A>T	VUS	1 lab	481519dac5
2:5833751 SOX11 G>C	2	5833751	5833751	G	C	SOX11	c.898G>C	NM_003108.4	NP_003099.1:p.(Gly300Arg)	NC_000002.11:g.5833751G>C	VUS	1 lab	481ec2a1dd
11:36597828 RAG1 A>G	11	36597828	36597828	A	G	RAG1	c.2974A>G	NM_000448.3	NP_000439.2:p.(Lys992Glu)	NC_000011.9:g.36597828A>G	(Likely) pathogenic	1 lab	481f3d8d58
19:8368855 CD320 C>A	19	8368855	8368855	C	A	CD320	c.386G>T	NM_016579.4	NP_057663.1:p.(Arg129Leu)	NC_000019.9:g.8368855C>A	VUS	1 lab	481f7aba95
20:62297372 RTEL1 A>G	20	62297372	62297372	A	G	RTEL1	c.626A>G	NM_032957.5	NP_116575.3:p.(Gln209Arg)	NC_000020.10:g.62297372A>G	VUS	1 lab	48203a2c85
2:178095557 NFE2L2 A>G	2	178095557	178095557	A	G	NFE2L2	c.1774T>C	NM_006164.5	NP_006155.2:p.(Phe592Leu)	NC_000002.11:g.178095557A>G	VUS	1 lab	482466ce60
12:49416046 KMT2D TC>T	12	49416046	49416048	TC	T	KMT2D	c.16412+16del	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49416048del	(Likely) benign	1 lab	4826674483
10:102783678 PDZD7 T>C	10	102783678	102783678	T	C	PDZD7	c.367+7A>G	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102783678T>C	(Likely) benign	1 lab	4829e74226
10:68470953 CTNNA3 G>T	10	68470953	68470953	G	T	CTNNA3	c.1281+55069C>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68470953G>T	VUS	1 lab	482a048fdd
19:13247224 NACC1 G>A	19	13247224	13247224	G	A	NACC1	c.1120+5G>A	NM_052876.4	NP_443108.1:p.?	NC_000019.9:g.13247224G>A	(Likely) benign	1 lab	482bbe5987
19:14037703 CC2D1A G>A	19	14037703	14037703	G	A	CC2D1A	c.2125+18G>A	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14037703G>A	(Likely) benign	1 lab	4832647a4d
7:98552727 TRRAP CAT>C	7	98552727	98552730	CAT	C	TRRAP	c.5664_5665del	NM_003496.4	NP_003487.1:p.(His1888GlnfsTer105)	NC_000007.13:g.98552729_98552730del	VUS	1 lab	4837d2b7a6
1:236925856 ACTN2 T>C	1	236925856	236925856	T	C	ACTN2	c.1998T>C	NM_001278344.2	NP_001265273.1:p.(Ser666=)	NC_000001.10:g.236925856T>C	(Likely) benign	1 lab	4838cfc7a4
X:48674919 HDAC6 G>A	X	48674919	48674919	G	A	HDAC6	c.1670G>A	NM_001321226.2	NP_001308155.1:p.(Arg557Gln)	NC_000023.10:g.48674919G>A	VUS	1 lab	48442e5faf
16:89348059 ANKRD11 G>A	16	89348059	89348059	G	A	ANKRD11	c.4891C>T	NM_013275.6	NP_037407.4:p.(Arg1631Trp)	NC_000016.9:g.89348059G>A	VUS	1 lab	48469a98c7
4:186065960 SLC25A4 A>C	4	186065960	186065960	A	C	SLC25A4	c.154A>C	NM_001151.4	NP_001142.2:p.(Lys52Gln)	NC_000004.11:g.186065960A>C	VUS	1 lab	48480ae6f7
6:45405675 RUNX2 T>C	6	45405675	45405675	T	C	RUNX2	c.581-9T>C	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45405675T>C	(Likely) benign	1 lab	484ab48a72
20:62044939 KCNQ2 A>G	20	62044939	62044939	A	G	KCNQ2	c.1632-5T>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62044939A>G	(Likely) benign	1 lab	484d875dd7
13:32907285 BRCA2 T>G	13	32907285	32907285	T	G	BRCA2	c.1670T>G	NM_000059.4	NP_000050.3:p.(Leu557Ter)	NC_000013.10:g.32907285T>G	(Likely) pathogenic	1 lab	484edb73ee
8:101074816 RGS22 T>C	8	101074816	101074816	T	C	RGS22	c.1478+3A>G	NM_001286692.2	NP_001273621.1:p.?	NC_000008.10:g.101074816T>C	(Likely) benign	1 lab	485429cc2c
22:36661330 APOL1 G>A	22	36661330	36661330	G	A	APOL1	c.496G>A	NM_145343.2	NP_663318.1:p.(Glu166Lys)	NC_000022.10:g.36661330G>A	(Likely) benign	1 lab	4855472752
16:2225498 TRAF7 C>T	16	2225498	2225498	C	T	TRAF7	c.1504-3C>T	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2225498C>T	VUS	1 lab	4861926b7c
22:19885568 TXNRD2 G>C	22	19885568	19885568	G	C	TXNRD2	c.768C>G	NM_001282512.3	NP_001269441.1:p.(Phe256Leu)	NC_000022.10:g.19885568G>C	VUS	1 lab	48646a3d58
22:38379320 SOX10 C>T	22	38379320	38379320	C	T	SOX10	c.428+44G>A	NM_006941.4	NP_008872.1:p.?	NC_000022.10:g.38379320C>T	(Likely) benign	1 lab	48681fb9d7
6:32629847 HLA-DQB1 A>G	6	32629847	32629847	A	G	HLA-DQB1	c.558T>C	NM_001243961.2	NP_001230890.1:p.(Thr186=)	NC_000006.11:g.32629847A>G	(Likely) benign	1 lab	48740ee637
1:209803179 LAMB3 A>ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC	1	209803179	209803256	A	ATTGTCACACACACCTCCATATGCCCCCTGGCTGGCGGCAAACACAGCGGGGTCAAAGTGACATGTCTCTGAGTGCCC	LAMB3	c.958_1034dup	NM_001017402.2	NP_001017402.1:p.(Asn345LysfsTer77)	NC_000001.10:g.209803180_209803256dup	(Likely) pathogenic	1 lab	4877ab2783
9:138648989 KCNT1 C>G	9	138648989	138648989	C	G	KCNT1	c.601-13C>G	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138648989C>G	(Likely) benign	1 lab	487d62b596
4:140283102 NAA15 CA>C	4	140283102	140283103	CA	C	NAA15	c.1753+12del	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140283103del	(Likely) benign	1 lab	487ee364e9
1:24663602 GRHL3 C>T	1	24663602	24663602	C	T	GRHL3	c.647C>T	NM_198174.3	NP_937817.3:p.(Pro216Leu)	NC_000001.10:g.24663602C>T	(Likely) benign	1 lab	487fd37281
12:52711747 KRT83 C>A	12	52711747	52711747	C	A	KRT83	c.601G>T	NM_002282.3	NP_002273.3:p.(Glu201Ter)	NC_000012.11:g.52711747C>A	(Likely) benign	1 lab	48851c124b
16:3639139 SLX4 A>G	16	3639139	3639139	A	G	SLX4	c.4500T>C	NM_032444.4	NP_115820.2:p.(Asn1500=)	NC_000016.9:g.3639139A>G	(Likely) benign	1 lab	488a3938e2
3:47088012 SETD2 T>C	3	47088012	47088012	T	C	SETD2	c.7063A>G	NM_014159.7	NP_054878.5:p.(Ile2355Val)	NC_000003.11:g.47088012T>C	VUS	1 lab	489042a6a9
X:31854848 DMD G>A	X	31854848	31854848	G	A	DMD	c.7187C>T	NM_004006.3	NP_003997.2:p.(Thr2396Ile)	NC_000023.10:g.31854848G>A	VUS	1 lab	489589950d
12:52115542 SCN8A C>CT	12	52115542	52115543	C	CT	SCN8A	c.1849dup	NM_014191.4	NP_055006.1:p.(Tyr617LeufsTer54)	NC_000012.11:g.52115543dup	(Likely) pathogenic	1 lab	489a7774d0
X:37639380 CYBB G>A	X	37639380	37639380	G	A	CYBB	c.45+5G>A	NM_000397.4	NP_000388.2:p.?	NC_000023.10:g.37639380G>A	(Likely) pathogenic	1 lab	489b87eac2
3:4687279 ITPR1 G>A	3	4687279	4687279	G	A	ITPR1	c.722G>A	NM_002222.7	NP_002213.5:p.(Arg241Lys)	NC_000003.11:g.4687279G>A	(Likely) pathogenic	1 lab	489e121a7a
19:45873798 ERCC2 T>C	19	45873798	45873798	T	C	ERCC2	c.1A>G	NM_000400.4	NP_000391.1:p.(Met1?)	NC_000019.9:g.45873798T>C	VUS	1 lab	48a2509df2
1:26142151 SELENON C>A	1	26142151	26142151	C	A	SELENON	c.1715C>A	NM_020451.3	NP_065184.2:p.(Thr572Asn)	NC_000001.10:g.26142151C>A	VUS	1 lab	48a362f921
15:93482824 CHD2 C>T	15	93482824	93482824	C	T	CHD2	c.568C>T	NM_001271.4	NP_001262.3:p.(Arg190Cys)	NC_000015.9:g.93482824C>T	VUS	1 lab	48b682b6c8
15:44858445 SPG11 CAG>C	15	44858445	44858449	CAG	C	SPG11	c.6811_6812del	NM_025137.4	NP_079413.3:p.(Leu2271AspfsTer68)	NC_000015.9:g.44858448_44858449del	(Likely) pathogenic	1 lab	48b902b0d1
14:64537369 SYNE2 C>T	14	64537369	64537369	C	T	SYNE2	c.10438C>T	NM_182914.3	NP_878918.2:p.(Arg3480Ter)	NC_000014.8:g.64537369C>T	VUS	1 lab	48b93c8b43
22:19885585 TXNRD2 T>A	22	19885585	19885585	T	A	TXNRD2	c.751A>T	NM_006440.5	NP_006431.2:p.(Ile251Phe)	NC_000022.10:g.19885585T>A	VUS	1 lab	48ba4feb09
16:30999462 HSD3B7 T>C	16	30999462	30999462	T	C	HSD3B7	c.1068T>C	NM_025193.4	NP_079469.2:p.(Arg356=)	NC_000016.9:g.30999462T>C	(Likely) benign	1 lab	48bb52673a
7:42004869 GLI3 G>A	7	42004869	42004869	G	A	GLI3	c.3802C>T	NM_000168.6	NP_000159.3:p.(Leu1268Phe)	NC_000007.13:g.42004869G>A	VUS	1 lab	48bbef77be
17:11672614 DNAH9 T>C	17	11672614	11672614	T	C	DNAH9	c.7520T>C	NM_001372.4	NP_001363.2:p.(Phe2507Ser)	NC_000017.10:g.11672614T>C	VUS	1 lab	48be5fe9b2
17:29509688 NF1 G>A	17	29509688	29509688	G	A	NF1	c.888+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509688G>A	(Likely) benign	1 lab	48bf7c3521
2:179451992 TTN C>T	2	179451992	179451992	C	T	TTN	c.59023G>A	NM_001256850.1	NP_001243779.1:p.(Val19675Ile)	NC_000002.11:g.179451992C>T	VUS	1 lab	48c0b1261d
15:93489441 CHD2 T>A	15	93489441	93489441	T	A	CHD2	c.1372T>A	NM_001271.4	NP_001262.3:p.(Cys458Ser)	NC_000015.9:g.93489441T>A	VUS	1 lab	48c3eebcd9
5:74018232 GFM2 A>AT	5	74018232	74018233	A	AT	GFM2	c.2182dup	NM_032380.5	NP_115756.2:p.(Ile728AsnfsTer66)	NC_000005.9:g.74018233dup	VUS	1 lab	48cb82333e
16:89357574 ANKRD11 G>A	16	89357574	89357574	G	A	ANKRD11	c.244C>T	NM_001256182.2	NP_001243111.1:p.(Arg82Trp)	NC_000016.9:g.89357574G>A	VUS	1 lab	48cde8bff8
2:179418901 TTN G>A	2	179418901	179418901	G	A	TTN	c.88937C>T	NM_001267550.2	NP_001254479.2:p.(Thr29646Ile)	NC_000002.11:g.179418901G>A	VUS	1 lab	48d37edd02
14:23282336 SLC7A7 G>T	14	23282336	23282336	G	T	SLC7A7	c.272C>A	NM_001126106.4	NP_001119578.1:p.(Ala91Glu)	NC_000014.8:g.23282336G>T	VUS	1 lab	48db9c8e94
2:179391857 TTN A>C	2	179391857	179391857	A	C	TTN	c.107858T>G	NM_001267550.2	NP_001254479.2:p.(Leu35953Arg)	NC_000002.11:g.179391857A>C	VUS	1 lab	48dd512603
13:32937387 BRCA2 C>CA	13	32937387	32937392	C	CA	BRCA2	c.8053dup	NM_000059.4	NP_000050.3:p.(Thr2685AsnfsTer8)	NC_000013.10:g.32937392dup	(Likely) pathogenic	1 lab	48df1b94ed
16:31120672 BCKDK C>T	16	31120672	31120672	C	T	BCKDK	c.128C>T	NM_005881.4	NP_005872.2:p.(Ala43Val)	NC_000016.9:g.31120672C>T	VUS	1 lab	48df50d923
11:124793299 HEPACAM G>A	11	124793299	124793299	G	A	HEPACAM	c.740C>T	NM_152722.5	NP_689935.2:p.(Thr247Ile)	NC_000011.9:g.124793299G>A	VUS	1 lab	48df7d4381
19:11152026 SMARCA4 G>T	19	11152026	11152026	G	T	SMARCA4	c.4214G>T	NM_001128844.3	NP_001122316.1:p.(Arg1405Leu)	NC_000019.9:g.11152026G>T	VUS	1 lab	48e7a6860e
16:3296547 MEFV C>T	16	3296547	3296547	C	T	MEFV	c.1588G>A	NM_000243.3	NP_000234.1:p.(Asp530Asn)	NC_000016.9:g.3296547C>T	VUS	1 lab	48e8001094
5:98224802 CHD1 T>A	5	98224802	98224802	T	A	CHD1	c.2321A>T	NM_001270.4	NP_001261.2:p.(Tyr774Phe)	NC_000005.9:g.98224802T>A	(Likely) benign	1 lab	48fa1e2d9c
6:138198336 TNFAIP3 T>C	6	138198336	138198336	T	C	TNFAIP3	c.929T>C	NM_006290.4	NP_006281.1:p.(Ile310Thr)	NC_000006.11:g.138198336T>C	VUS	1 lab	48faab03c4
5:137753181 KDM3B A>G	5	137753181	137753181	A	G	KDM3B	c.3317A>G	NM_016604.4	NP_057688.3:p.(Asn1106Ser)	NC_000005.9:g.137753181A>G	VUS	1 lab	48fc768f7a
9:109771873 ZNF462 C>T	9	109771873	109771873	C	T	ZNF462	c.7237C>T	NM_021224.6	NP_067047.4:p.(Arg2413Cys)	NC_000009.11:g.109771873C>T	VUS	1 lab	48fdf006ae
12:53714496 AAAS A>G	12	53714496	53714496	A	G	AAAS	c.124-20T>C	NM_015665.6	NP_056480.1:p.?	NC_000012.11:g.53714496A>G	(Likely) benign	1 lab	d9e071fbd1
1:35227033 GJB4 T>G	1	35227033	35227033	T	G	GJB4	c.178T>G	NM_153212.3	NP_694944.1:p.(Cys60Gly)	NC_000001.10:g.35227033T>G	(Likely) benign	1 lab	4903dc17d5
17:78162324 CARD14 G>A	17	78162324	78162324	G	A	CARD14	c.824G>A	NM_024110.4	NP_077015.2:p.(Arg275His)	NC_000017.10:g.78162324G>A	(Likely) benign	1 lab	490483841b
15:60803617 RORA CAG>C	15	60803617	60803619	CAG	C	RORA	c.626_627del	NM_134261.3	NP_599023.1:p.(Pro209ArgfsTer4)	NC_000015.9:g.60803618_60803619del	(Likely) pathogenic	1 lab	4905f75035
6:157507504 ARID1B C>T	6	157507504	157507504	C	T	ARID1B	c.3799+1935C>T	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157507504C>T	(Likely) benign	1 lab	490b913f6c
10:101486736 COX15 C>T	10	101486736	101486736	C	T	COX15	c.571G>A	NM_004376.7	NP_004367.2:p.(Val191Ile)	NC_000010.10:g.101486736C>T	VUS	1 lab	491158ff5c
10:23482635 PTF1A T>C	10	23482635	23482635	T	C	PTF1A	c.787T>C	NM_178161.3	NP_835455.1:p.(Ser263Pro)	NC_000010.10:g.23482635T>C	(Likely) benign	1 lab	491cff8f10
10:73270995 CDH23 A>G	10	73270995	73270995	A	G	CDH23	c.429+26A>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73270995A>G	(Likely) benign	1 lab	491e73255e
14:23855633 MYH6 T>G	14	23855633	23855633	T	G	MYH6	c.4850A>C	NM_002471.4	NP_002462.2:p.(Lys1617Thr)	NC_000014.8:g.23855633T>G	VUS	1 lab	49215b6042
3:197408233 RUBCN T>C	3	197408233	197408233	T	C	RUBCN	c.2062A>G	NM_001145642.4	NP_001139114.1:p.(Ile688Val)	NC_000003.11:g.197408233T>C	VUS	1 lab	49216660fe
1:1460671 ATAD3A C>T	1	1460671	1460671	C	T	ATAD3A	c.1266C>T	NM_001170535.3	NP_001164006.1:p.(Thr422=)	NC_000001.10:g.1460671C>T	(Likely) benign	1 lab	49261b5882
3:139074528 MRPS22 G>A	3	139074528	139074528	G	A	MRPS22	c.883G>A	NM_020191.4	NP_064576.1:p.(Asp295Asn)	NC_000003.11:g.139074528G>A	(Likely) benign	1 lab	4926cf367c
2:179396463 TTN C>T	2	179396463	179396463	C	T	TTN	c.104879G>A	NM_001267550.2	NP_001254479.2:p.(Arg34960His)	NC_000002.11:g.179396463C>T	VUS	1 lab	492b57be30
9:117169033 WHRN A>G	9	117169033	117169033	A	G	WHRN	c.1838T>C	NM_015404.4	NP_056219.3:p.(Met613Thr)	NC_000009.11:g.117169033A>G	(Likely) benign	1 lab	492c1ee54f
14:64447368 SYNE2 C>G	14	64447368	64447368	C	G	SYNE2	c.1570-4C>G	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64447368C>G	(Likely) benign	1 lab	492e930afb
4:1957826 NSD2 C>T	4	1957826	1957826	C	T	NSD2	c.2792C>T	NM_133330.3	NP_579877.1:p.(Thr931Met)	NC_000004.11:g.1957826C>T	VUS	1 lab	49337cf70e
12:21014017 SLCO1B3 TTTAA>T	12	21014017	21014026	TTTAA	T	SLCO1B3	c.432_435del	NM_019844.4	NP_062818.1:p.(Asn145LysfsTer12)	NC_000012.11:g.21014023_21014026del	VUS	1 lab	4933b525f6
X:49106612 CCDC22 G>A	X	49106612	49106612	G	A	CCDC22	c.1774G>A	NM_014008.5	NP_054727.1:p.(Glu592Lys)	NC_000023.10:g.49106612G>A	VUS	1 lab	493620164d
2:171702577 GAD1 T>G	2	171702577	171702577	T	G	GAD1	c.1002+4T>G	NM_000817.3	NP_000808.2:p.?	NC_000002.11:g.171702577T>G	(Likely) benign	1 lab	4938ece12d
15:96875650 NR2F2 A>C	15	96875650	96875650	A	C	NR2F2	c.316A>C	NM_021005.4	NP_066285.1:p.(Ser106Arg)	NC_000015.9:g.96875650A>C	VUS	1 lab	49470e6eea
1:111146749 KCNA2 G>A	1	111146749	111146749	G	A	KCNA2	c.656C>T	NM_004974.4	NP_004965.1:p.(Thr219Ile)	NC_000001.10:g.111146749G>A	VUS	1 lab	494f87b579
10:115411614 NRAP A>G	10	115411614	115411614	A	G	NRAP	c.623T>C	NM_001261463.2	NP_001248392.1:p.(Val208Ala)	NC_000010.10:g.115411614A>G	(Likely) benign	1 lab	495100500a
1:204518530 MDM4 C>T	1	204518530	204518530	C	T	MDM4	c.1193C>T	NM_002393.5	NP_002384.2:p.(Ala398Val)	NC_000001.10:g.204518530C>T	VUS	1 lab	49527b2338
9:2073348 SMARCA2 G>A	9	2073348	2073348	G	A	SMARCA2	c.1877+6G>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2073348G>A	(Likely) benign	1 lab	49547bba22
8:2092650 MYOM2 C>G	8	2092650	2092650	C	G	MYOM2	c.4143C>G	NM_003970.4	NP_003961.3:p.(Asn1381Lys)	NC_000008.10:g.2092650C>G	VUS	1 lab	495640407d
11:85989548 EED G>T	11	85989548	85989548	G	T	EED	c.1307G>T	NM_003797.5	NP_003788.2:p.(Arg436Leu)	NC_000011.9:g.85989548G>T	VUS	1 lab	495bd667be
8:117868456 RAD21 GTGT>G	8	117868456	117868463	GTGT	G	RAD21	c.883_885del	NM_006265.3	NP_006256.1:p.(Thr295del)	NC_000008.10:g.117868461_117868463del	VUS	1 lab	495f8b4434
12:111760221 CUX2 G>A	12	111760221	111760221	G	A	CUX2	c.2767-4G>A	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111760221G>A	(Likely) benign	1 lab	4960608e9f
6:18122477 NHLRC1 C>T	6	18122477	18122477	C	T	NHLRC1	c.361G>A	NM_198586.3	NP_940988.2:p.(Gly121Ser)	NC_000006.11:g.18122477C>T	(Likely) pathogenic	1 lab	4962aaea3e
11:62289072 AHNAK C>T	11	62289072	62289072	C	T	AHNAK	c.12817G>A	NM_001620.3	NP_001611.1:p.(Gly4273Ser)	NC_000011.9:g.62289072C>T	VUS	1 lab	496327265c
10:50691438 ERCC6 T>C	10	50691438	50691438	T	C	ERCC6	c.1946A>G	NM_001346440.2	NP_001333369.1:p.(His649Arg)	NC_000010.10:g.50691438T>C	VUS	1 lab	4965ed25dd
22:38541632 PLA2G6 C>A	22	38541632	38541632	C	A	PLA2G6	c.238G>T	NM_001349864.2	NP_001336793.1:p.(Ala80Ser)	NC_000022.10:g.38541632C>A	VUS	1 lab	496aa58b0d
1:63102259 DOCK7 A>T	1	63102259	63102259	A	T	DOCK7	c.834T>A	NM_001271999.2	NP_001258928.1:p.(Ile278=)	NC_000001.10:g.63102259A>T	(Likely) benign	1 lab	496c502b06
1:245005492 COX20 T>TG	1	245005492	245005493	T	TG	COX20	c.158-5_158-4insG	NM_198076.6	NP_932342.1:p.?	NC_000001.10:g.245005492_245005493insG	(Likely) benign	1 lab	49743da590
8:42694420 THAP1 G>A	8	42694420	42694420	G	A	THAP1	c.176C>T	NM_018105.3	NP_060575.1:p.(Thr59Ile)	NC_000008.10:g.42694420G>A	VUS	1 lab	49784ce6ac
3:14173136 TMEM43 C>T	3	14173136	14173136	C	T	TMEM43	c.354C>T	NM_024334.3	NP_077310.1:p.(His118=)	NC_000003.11:g.14173136C>T	(Likely) benign	1 lab	49839fb682
X:73960436 NEXMIF A>T	X	73960436	73960436	A	T	NEXMIF	c.3956T>A	NM_001008537.3	NP_001008537.1:p.(Ile1319Asn)	NC_000023.10:g.73960436A>T	VUS	1 lab	4984398a81
5:171484396 STK10 T>C	5	171484396	171484396	T	C	STK10	c.2294A>G	NM_005990.4	NP_005981.3:p.(Gln765Arg)	NC_000005.9:g.171484396T>C	VUS	1 lab	49958840f1
16:70513553 FCSK C>T	16	70513553	70513553	C	T	FCSK	c.3225C>T	NM_145059.3	NP_659496.2:p.(Thr1075=)	NC_000016.9:g.70513553C>T	(Likely) benign	1 lab	49a6217d4e
16:732799 STUB1 C>T	16	732799	732799	C	T	STUB1	c.*310C>T	NM_005861.4	NP_005852.2:p.?	NC_000016.9:g.732799C>T	VUS	1 lab	49aea67185
6:149700023 TAB2 C>A	6	149700023	149700023	C	A	TAB2	c.972C>A	NM_015093.6	NP_055908.1:p.(Asn324Lys)	NC_000006.11:g.149700023C>A	VUS	1 lab	49b4b342fa
9:131394565 SPTAN1 C>T	9	131394565	131394565	C	T	SPTAN1	c.6922C>T	NM_001130438.3	NP_001123910.1:p.(Arg2308Cys)	NC_000009.11:g.131394565C>T	(Likely) pathogenic	1 lab	49ba98d577
2:130832302 POTEF T>A	2	130832302	130832302	T	A	POTEF	c.2743A>T	NM_001099771.2	NP_001093241.1:p.(Lys915Ter)	NC_000002.11:g.130832302T>A	VUS	1 lab	49bb7ee3d0
1:173952711 RC3H1 A>G	1	173952711	173952711	A	G	RC3H1	c.437T>C	NM_172071.4	NP_742068.1:p.(Val146Ala)	NC_000001.10:g.173952711A>G	VUS	1 lab	49bda131a1
18:29122544 DSG2 G>A	18	29122544	29122544	G	A	DSG2	c.2063G>A	NM_001943.5	NP_001934.2:p.(Gly688Glu)	NC_000018.9:g.29122544G>A	VUS	1 lab	49c35a4dd4
5:147480112 SPINK5 T>C	5	147480112	147480112	T	C	SPINK5	c.1188T>C	NM_001127698.2	NP_001121170.1:p.(His396=)	NC_000005.9:g.147480112T>C	(Likely) benign	1 lab	49c39c4f5a
2:179458143 TTN C>G	2	179458143	179458143	C	G	TTN	c.58792G>C	NM_001267550.2	NP_001254479.2:p.(Val19598Leu)	NC_000002.11:g.179458143C>G	VUS	1 lab	49c5cf7744
2:114002124 PAX8 T>A	2	114002124	114002124	T	A	PAX8	c.269A>T	NM_003466.4	NP_003457.1:p.(Glu90Val)	NC_000002.11:g.114002124T>A	VUS	1 lab	49ca29937e
6:72892383 RIMS1 G>A	6	72892383	72892383	G	A	RIMS1	c.1209G>A	NM_014989.6	NP_055804.2:p.(Ala403=)	NC_000006.11:g.72892383G>A	(Likely) benign	1 lab	49cbea73e0
1:155451288 ASH1L T>C	1	155451288	155451288	T	C	ASH1L	c.1373A>G	NM_018489.3	NP_060959.2:p.(Asp458Gly)	NC_000001.10:g.155451288T>C	VUS	1 lab	49d03bd90f
18:10760955 PIEZO2 C>G	18	10760955	10760955	C	G	PIEZO2	c.3329G>C	NM_022068.4	NP_071351.2:p.(Cys1110Ser)	NC_000018.9:g.10760955C>G	VUS	1 lab	49d0bd7e88
6:29910820 HLA-A G>C	6	29910820	29910820	G	C	HLA-A	c.343+17G>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910820G>C	(Likely) benign	1 lab	49d34c4d8f
12:132535181 EP400 G>A	12	132535181	132535181	G	A	EP400	c.7375G>A	NM_015409.5	NP_056224.3:p.(Ala2459Thr)	NC_000012.11:g.132535181G>A	VUS	1 lab	49df968173
4:5690902 EVC2 T>C	4	5690902	5690902	T	C	EVC2	c.448A>G	NM_001166136.2	NP_001159608.1:p.(Ser150Gly)	NC_000004.11:g.5690902T>C	(Likely) benign	1 lab	49ec9bd07d
20:30956910 ASXL1 G>A	20	30956910	30956910	G	A	ASXL1	c.236G>A	NM_015338.6	NP_056153.2:p.(Ser79Asn)	NC_000020.10:g.30956910G>A	VUS	1 lab	49edc09c58
17:65822087 BPTF G>GC	17	65822087	65822095	G	GC	BPTF	c.255dup	NM_004459.7	NP_004450.3:p.(Ser86GlnfsTer43)	NC_000017.10:g.65822095dup	VUS	1 lab	49f2727b5d
2:37230702 HEATR5B T>C	2	37230702	37230702	T	C	HEATR5B	c.5033A>G	NM_019024.3	NP_061897.1:p.(Glu1678Gly)	NC_000002.11:g.37230702T>C	VUS	1 lab	4a0491e284
2:179486304 TTN G>A	2	179486304	179486304	G	A	TTN	c.45247C>T	NM_001267550.2	NP_001254479.2:p.(Arg15083Trp)	NC_000002.11:g.179486304G>A	VUS	1 lab	4a0880d7b6
11:67256840 AIP C>T	11	67256840	67256840	C	T	AIP	c.382C>T	NM_003977.4	NP_003968.3:p.(Arg128Cys)	NC_000011.9:g.67256840C>T	(Likely) benign	1 lab	4a08c159c7
2:158636910 ACVR1 G>A	2	158636910	158636910	G	A	ACVR1	c.270C>T	NM_001105.5	NP_001096.1:p.(Ala90=)	NC_000002.11:g.158636910G>A	(Likely) benign	1 lab	4a09146cde
11:67926087 KMT5B CACT>C	11	67926087	67926090	CACT	C	KMT5B	c.1207_1209del	NM_001300907.1	NP_001287836.1:p.(Ser403del)	NC_000011.9:g.67926088_67926090del	VUS	1 lab	4a0af518be
19:45899415 PPP1R13L C>T	19	45899415	45899415	C	T	PPP1R13L	c.903+11G>A	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45899415C>T	(Likely) benign	1 lab	4a0c9f2321
3:119962852 GPR156 T>G	3	119962852	119962852	T	G	GPR156	c.94A>C	NM_153002.3	NP_694547.2:p.(Ile32Leu)	NC_000003.11:g.119962852T>G	VUS	1 lab	4a11767790
6:32798439 TAP2 C>T	6	32798439	32798439	C	T	TAP2	c.1417G>A	NM_001290043.2	NP_001276972.1:p.(Val473Ile)	NC_000006.11:g.32798439C>T	VUS	1 lab	4a120ce4ca
1:202698166 KDM5B A>C	1	202698166	202698166	A	C	KDM5B	c.4633T>G	NM_006618.5	NP_006609.3:p.(Ter1545GluextTer10)	NC_000001.10:g.202698166A>C	VUS	1 lab	4a14b7d022
10:21120116 NEBL A>G	10	21120116	21120116	A	G	NEBL	c.1671+9T>C	NM_006393.3	NP_006384.1:p.?	NC_000010.10:g.21120116A>G	(Likely) benign	1 lab	4a15d8fd66
2:33589409 LTBP1 C>T	2	33589409	33589409	C	T	LTBP1	c.4526C>T	NM_206943.4	NP_996826.3:p.(Pro1509Leu)	NC_000002.11:g.33589409C>T	VUS	1 lab	4a1a522736
18:32712071 MAPRE2 G>A	18	32712071	32712071	G	A	MAPRE2	c.790G>A	NM_001143827.3	NP_001137299.1:p.(Glu264Lys)	NC_000018.9:g.32712071G>A	VUS	1 lab	4a1d6bac0f
12:57965955 KIF5A GAGGA>G	12	57965955	57965959	GAGGA	G	KIF5A	c.1475_1478del	NM_004984.4	NP_004975.2:p.(Glu492GlyfsTer4)	NC_000012.11:g.57965956_57965959del	(Likely) pathogenic	1 lab	4a1f33c3f9
10:64975079 JMJD1C C>T	10	64975079	64975079	C	T	JMJD1C	c.959G>A	NM_032776.3	NP_116165.1:p.(Ser320Asn)	NC_000010.10:g.64975079C>T	(Likely) benign	1 lab	4a211c331c
13:26535734 ATP8A2 G>A	13	26535734	26535734	G	A	ATP8A2	c.3205G>A	NM_016529.6	NP_057613.4:p.(Ala1069Thr)	NC_000013.10:g.26535734G>A	(Likely) benign	1 lab	4a2192ecd2
18:10454960 APCDD1 C>G	18	10454960	10454960	C	G	APCDD1	c.-19C>G	NM_153000.5	NP_694545.1:p.?	NC_000018.9:g.10454960C>G	(Likely) benign	1 lab	4a2c16c3aa
22:35734780 TOM1 C>T	22	35734780	35734780	C	T	TOM1	c.1223C>T	NM_005488.3	NP_005479.1:p.(Ala408Val)	NC_000022.10:g.35734780C>T	(Likely) benign	1 lab	4a2fcaf472
19:18979471 GDF1 T>TGTCAAAGAAGAGCACGGA	19	18979471	18979490	T	TGTCAAAGAAGAGCACGGA	GDF1	c.1036_1053dup	NM_001492.6	NP_001483.3:p.(Ser346_Asp351dup)	NC_000019.9:g.18979473_18979490dup	VUS	1 lab	4a3003273b
9:712137 KANK1 G>C	9	712137	712137	G	C	KANK1	c.1371G>C	NM_001256877.3	NP_001243806.1:p.(Leu457=)	NC_000009.11:g.712137G>C	(Likely) benign	1 lab	4a32d43350
4:995997 IDUA A>G	4	995997	995997	A	G	IDUA	c.972+48A>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.995997A>G	(Likely) benign	1 lab	4a35565028
2:179732758 CCDC141 G>A	2	179732758	179732758	G	A	CCDC141	c.2569C>T	NM_173648.4	NP_775919.3:p.(Arg857Trp)	NC_000002.11:g.179732758G>A	VUS	1 lab	4a38068a20
3:119128398 ARHGAP31 G>A	3	119128398	119128398	G	A	ARHGAP31	c.1701G>A	NM_020754.4	NP_065805.2:p.(Pro567=)	NC_000003.11:g.119128398G>A	(Likely) benign	1 lab	4a3a3ba940
3:48622190 COL7A1 G>A	3	48622190	48622190	G	A	COL7A1	c.4024C>T	NM_000094.4	NP_000085.1:p.(Pro1342Ser)	NC_000003.11:g.48622190G>A	VUS	1 lab	4a4a351ac5
13:102568891 FGF14 C>G	13	102568891	102568891	C	G	FGF14	c.105G>C	NM_004115.4	NP_004106.1:p.(Lys35Asn)	NC_000013.10:g.102568891C>G	VUS	1 lab	4a4c64ea82
8:61757959 CHD7 AC>A	8	61757959	61757960	AC	A	CHD7	c.5202del	NM_017780.4	NP_060250.2:p.(Cys1735ValfsTer14)	NC_000008.10:g.61757960del	(Likely) pathogenic	1 lab	4a4de6ef0c
8:144900182 PUF60 G>A	8	144900182	144900182	G	A	PUF60	c.667C>T	NM_078480.3	NP_510965.1:p.(Arg223Trp)	NC_000008.10:g.144900182G>A	VUS	1 lab	4a52bcb6db
8:120790304 TAF2 T>C	8	120790304	120790304	T	C	TAF2	c.2319A>G	NM_003184.4	NP_003175.2:p.(Thr773=)	NC_000008.10:g.120790304T>C	(Likely) benign	1 lab	4a5ad35e49
10:27326999 ANKRD26 T>C	10	27326999	27326999	T	C	ANKRD26	c.2376-16A>G	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27326999T>C	(Likely) benign	1 lab	4a5f0061d3
1:27876189 AHDC1 C>T	1	27876189	27876189	C	T	AHDC1	c.2438G>A	NM_001029882.3	NP_001025053.1:p.(Arg813His)	NC_000001.10:g.27876189C>T	(Likely) benign	1 lab	4a5f86df11
21:44838943 SIK1 G>C	21	44838943	44838943	G	C	SIK1	c.1420C>G	NM_173354.5	NP_775490.2:p.(Leu474Val)	NC_000021.8:g.44838943G>C	VUS	1 lab	4a65f62d6e
16:70296296 AARS1 T>C	16	70296296	70296296	T	C	AARS1	c.1624A>G	NM_001605.3	NP_001596.2:p.(Ile542Val)	NC_000016.9:g.70296296T>C	VUS	1 lab	4a6b0c4eb3
12:52182489 SCN8A A>G	12	52182489	52182489	A	G	SCN8A	c.4238A>G	NM_014191.4	NP_055006.1:p.(Lys1413Arg)	NC_000012.11:g.52182489A>G	VUS	1 lab	4a6bbd52be
2:236715931 AGAP1 C>G	2	236715931	236715931	C	G	AGAP1	c.1006C>G	NM_014914.5	NP_055729.2:p.(Arg336Gly)	NC_000002.11:g.236715931C>G	VUS	1 lab	4a75ac35d9
14:36989306 NKX2-1 C>T	14	36989306	36989306	C	T	NKX2-1	c.29G>A	NM_001079668.3	NP_001073136.1:p.(Arg10Gln)	NC_000014.8:g.36989306C>T	(Likely) benign	1 lab	4a7fbcad2c
17:4856580 ENO3 T>C	17	4856580	4856580	T	C	ENO3	c.254T>C	NM_001976.5	NP_001967.3:p.(Val85Ala)	NC_000017.10:g.4856580T>C	(Likely) benign	1 lab	4a840866c3
20:473012 CSNK2A1 A>T	20	473012	473012	A	T	CSNK2A1	c.511-4T>A	NM_001895.4	NP_001886.1:p.?	NC_000020.10:g.473012A>T	(Likely) benign	1 lab	4a8a52366f
3:30715610 TGFBR2 G>A	3	30715610	30715610	G	A	TGFBR2	c.1268G>A	NM_003242.6	NP_003233.4:p.(Arg423Lys)	NC_000003.11:g.30715610G>A	VUS	1 lab	4a8ae28be3
7:117232300 CFTR T>G	7	117232300	117232300	T	G	CFTR	c.2079T>G	NM_000492.4	NP_000483.3:p.(Phe693Leu)	NC_000007.13:g.117232300T>G	VUS	1 lab	4abad333d7
16:69368746 COG8 C>T	16	69368746	69368746	C	T	COG8	c.1091G>A	NM_032382.5	NP_115758.3:p.(Arg364Gln)	NC_000016.9:g.69368746C>T	VUS	1 lab	4a92809c72
12:116445446 MED13L A>G	12	116445446	116445446	A	G	MED13L	c.2013-5T>C	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116445446A>G	(Likely) benign	1 lab	4a962fa996
1:46655591 POMGNT1 TG>T	1	46655591	46655592	TG	T	POMGNT1	c.1719del	NM_001243766.2	NP_001230695.2:p.(His573GlnfsTer50)	NC_000001.10:g.46655592del	(Likely) pathogenic	1 lab	4aa5b1c1c7
12:56495162 ERBB3 A>C	12	56495162	56495162	A	C	ERBB3	c.3502+17A>C	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56495162A>C	(Likely) benign	1 lab	4aa8f92ab8
2:179442292 TTN TA>T	2	179442292	179442302	TA	T	TTN	c.68824+36del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442302del	(Likely) benign	1 lab	4aab463019
X:132670173 GPC3 G>A	X	132670173	132670173	G	A	GPC3	c.1722C>T	NM_004484.4	NP_004475.1:p.(Cys574=)	NC_000023.10:g.132670173G>A	(Likely) benign	1 lab	4aae36d669
2:166223882 SCN2A G>C	2	166223882	166223882	G	C	SCN2A	c.3675+1G>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166223882G>C	(Likely) pathogenic	1 lab	4ab04e8c11
10:27024423 PDSS1 C>T	10	27024423	27024423	C	T	PDSS1	c.941C>T	NM_014317.5	NP_055132.2:p.(Ser314Leu)	NC_000010.10:g.27024423C>T	VUS	1 lab	4abd25c946
2:179498597 TTN T>G	2	179498597	179498597	T	G	TTN	c.42629A>C	NM_001267550.2	NP_001254479.2:p.(Gln14210Pro)	NC_000002.11:g.179498597T>G	VUS	1 lab	4abdba62f3
2:25497804 DNMT3A C>T	2	25497804	25497804	C	T	DNMT3A	c.639+6G>A	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25497804C>T	(Likely) benign	1 lab	4abdc9583b
4:5803829 EVC AC>A	4	5803829	5803836	AC	A	EVC	c.2449+15del	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5803836del	(Likely) benign	1 lab	4ac032149b
17:42287678 UBTF CCT>C	17	42287678	42287680	CCT	C	UBTF	c.1515+6_1515+7del	NM_014233.4	NP_055048.1:p.?	NC_000017.10:g.42287679_42287680del	(Likely) benign	1 lab	4ac059d4e3
2:48050433 FBXO11 T>C	2	48050433	48050433	T	C	FBXO11	c.1465A>G	NM_001190274.2	NP_001177203.1:p.(Asn489Asp)	NC_000002.11:g.48050433T>C	VUS	1 lab	4ac0ebdbe1
5:58286625 PDE4D C>T	5	58286625	58286625	C	T	PDE4D	c.897+6G>A	NM_001197220.2	NP_001184149.1:p.?	NC_000005.9:g.58286625C>T	(Likely) benign	1 lab	4ac1464262
X:43552556 MAOA G>A	X	43552556	43552556	G	A	MAOA	c.187G>A	NM_000240.4	NP_000231.1:p.(Val63Ile)	NC_000023.10:g.43552556G>A	VUS	1 lab	4ac2f167d2
3:48616921 COL7A1 C>G	3	48616921	48616921	C	G	COL7A1	c.5263G>C	NM_000094.4	NP_000085.1:p.(Gly1755Arg)	NC_000003.11:g.48616921C>G	(Likely) pathogenic	1 lab	4ac31cfcb7
11:27402505 LGR4 T>C	11	27402505	27402505	T	C	LGR4	c.767A>G	NM_018490.5	NP_060960.2:p.(His256Arg)	NC_000011.9:g.27402505T>C	VUS	1 lab	4ac53496a4
2:179393830 TTN T>C	2	179393830	179393830	T	C	TTN	c.106648A>G	NM_001267550.2	NP_001254479.2:p.(Ile35550Val)	NC_000002.11:g.179393830T>C	VUS	1 lab	4ad0c18f70
5:74675302 CERT1 C>T	5	74675302	74675302	C	T	CERT1	c.2132-4G>A	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74675302C>T	(Likely) benign	1 lab	4ad5ecd95a
4:103537625 NFKB1 C>T	4	103537625	103537625	C	T	NFKB1	c.2784C>T	NM_003998.4	NP_003989.2:p.(Ser928=)	NC_000004.11:g.103537625C>T	(Likely) benign	1 lab	4adb16b8c9
1:240370952 FMN2 C>T	1	240370952	240370952	C	T	FMN2	c.2852C>T	NM_001305424.2	NP_001292353.1:p.(Pro951Leu)	NC_000001.10:g.240370952C>T	(Likely) benign	1 lab	4adb5c4a36
19:3653525 PIP5K1C C>T	19	3653525	3653525	C	T	PIP5K1C	c.684G>A	NM_012398.3	NP_036530.1:p.(Ser228=)	NC_000019.9:g.3653525C>T	(Likely) benign	1 lab	4add3a086d
12:52306909 ACVRL1 C>T	12	52306909	52306909	C	T	ACVRL1	c.88C>T	NM_000020.3	NP_000011.2:p.(Pro30Ser)	NC_000012.11:g.52306909C>T	(Likely) benign	1 lab	4adfd53927
11:61205229 SDHAF2 G>A	11	61205229	61205229	G	A	SDHAF2	c.169G>A	NM_017841.4	NP_060311.1:p.(Glu57Lys)	NC_000011.9:g.61205229G>A	VUS	1 lab	4aed3c1bf2
16:90001721 TUBB3 G>A	16	90001721	90001721	G	A	TUBB3	c.646G>A	NM_001197181.2	NP_001184110.1:p.(Glu216Lys)	NC_000016.9:g.90001721G>A	(Likely) pathogenic	1 lab	4aef9643f7
17:56774115 RAD51C GT>G	17	56774115	56774120	GT	G	RAD51C	c.471del	NM_058216.3	NP_478123.1:p.(Phe157LeufsTer14)	NC_000017.10:g.56774120del	(Likely) pathogenic	1 lab	4af30a5660
20:56137895 PCK1 G>C	20	56137895	56137895	G	C	PCK1	c.550G>C	NM_002591.4	NP_002582.3:p.(Val184Leu)	NC_000020.10:g.56137895G>C	(Likely) benign	1 lab	4af738c591
11:118343384 KMT2A A>T	11	118343384	118343384	A	T	KMT2A	c.1510A>T	NM_001197104.2	NP_001184033.1:p.(Ser504Cys)	NC_000011.9:g.118343384A>T	VUS	1 lab	4afc4b429e
2:241657560 KIF1A G>A	2	241657560	241657560	G	A	KIF1A	c.4937C>T	NM_004321.8	NP_004312.2:p.(Thr1646Met)	NC_000002.11:g.241657560G>A	VUS	1 lab	4b0e2482ec
7:151856106 KMT2C G>C	7	151856106	151856106	G	C	KMT2C	c.11512C>G	NM_170606.3	NP_733751.2:p.(Pro3838Ala)	NC_000007.13:g.151856106G>C	VUS	1 lab	4b1827b5dc
16:3779440 CREBBP C>T	16	3779440	3779440	C	T	CREBBP	c.5608G>A	NM_004380.3	NP_004371.2:p.(Ala1870Thr)	NC_000016.9:g.3779440C>T	VUS	1 lab	4b1852bf5e
10:76788644 KAT6B AGAGGAG>A	10	76788644	76788661	AGAGGAG	A	KAT6B	c.4074_4079del	NM_012330.4	NP_036462.2:p.(Glu1367_Glu1368del)	NC_000010.10:g.76788656_76788661del	(Likely) benign	1 lab	4b19f1ab4c
6:129775418 LAMA2 G>A	6	129775418	129775418	G	A	LAMA2	c.6692G>A	NM_000426.4	NP_000417.3:p.(Arg2231His)	NC_000006.11:g.129775418G>A	VUS	1 lab	4b1b0e2f73
4:114278927 ANK2 CGAT>C	4	114278927	114278932	CGAT	C	ANK2	c.9156_9158del	NM_001148.6	NP_001139.3:p.(Asp3052del)	NC_000004.11:g.114278930_114278932del	VUS	1 lab	4b228b3194
11:108164028 ATM A>T	11	108164028	108164028	A	T	ATM	c.4612-12A>T	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108164028A>T	(Likely) benign	1 lab	4b24b059ae
7:87053624 ABCB4 C>T	7	87053624	87053624	C	T	ABCB4	c.2065-256G>A	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87053624C>T	(Likely) benign	1 lab	4b2693cd23
2:179397403 TTN A>G	2	179397403	179397403	A	G	TTN	c.103939T>C	NM_001267550.2	NP_001254479.2:p.(Tyr34647His)	NC_000002.11:g.179397403A>G	VUS	1 lab	4b2ce83bbb
7:117149189 CFTR A>G	7	117149189	117149189	A	G	CFTR	c.266A>G	NM_000492.4	NP_000483.3:p.(Tyr89Cys)	NC_000007.13:g.117149189A>G	VUS	1 lab	4b2ddadad6
3:45518000 LARS2 C>T	3	45518000	45518000	C	T	LARS2	c.899C>T	NM_015340.4	NP_056155.1:p.(Thr300Met)	NC_000003.11:g.45518000C>T	VUS	1 lab	4b4c64f0e5
11:85718641 PICALM T>C	11	85718641	85718641	T	C	PICALM	c.766-15A>G	NM_007166.4	NP_009097.2:p.?	NC_000011.9:g.85718641T>C	(Likely) benign	1 lab	4b34683e8f
2:166618262 GALNT3 C>T	2	166618262	166618262	C	T	GALNT3	c.838+153G>A	NM_004482.4	NP_004473.2:p.?	NC_000002.11:g.166618262C>T	(Likely) benign	1 lab	4b3b974e47
11:108202225 ATM G>C	11	108202225	108202225	G	C	ATM	c.7570G>C	NM_000051.4	NP_000042.3:p.(Ala2524Pro)	NC_000011.9:g.108202225G>C	(Likely) pathogenic	1 lab	4b3bc64e9e
16:81944325 PLCG2 C>T	16	81944325	81944325	C	T	PLCG2	c.1934C>T	NM_002661.5	NP_002652.2:p.(Pro645Leu)	NC_000016.9:g.81944325C>T	VUS	1 lab	4b3dccfc53
22:32482321 SLC5A1 T>G	22	32482321	32482321	T	G	SLC5A1	c.1129+7T>G	NM_000343.4	NP_000334.1:p.?	NC_000022.10:g.32482321T>G	(Likely) benign	1 lab	4b3ebe31d0
15:89867094 POLG G>T	15	89867094	89867094	G	T	POLG	c.2109C>A	NM_002693.3	NP_002684.1:p.(Ala703=)	NC_000015.9:g.89867094G>T	(Likely) benign	1 lab	4b3f1c4cd5
16:89167161 ACSF3 G>A	16	89167161	89167161	G	A	ACSF3	c.72G>A	NM_174917.5	NP_777577.2:p.(Ala24=)	NC_000016.9:g.89167161G>A	(Likely) benign	1 lab	4b414bd9f0
16:15758733 NDE1 A>C	16	15758733	15758733	A	C	NDE1	c.83+15A>C	NM_001143979.2	NP_001137451.1:p.?	NC_000016.9:g.15758733A>C	(Likely) benign	1 lab	4b41746d0b
1:16199382 SPEN A>G	1	16199382	16199382	A	G	SPEN	c.155A>G	NM_015001.3	NP_055816.2:p.(Asp52Gly)	NC_000001.10:g.16199382A>G	VUS	1 lab	4b41c63fd8
17:41243625 BRCA1 GCAGTC>G	17	41243625	41243630	GCAGTC	G	BRCA1	c.3918_3922del	NM_007294.4	NP_009225.1:p.(Leu1306PhefsTer22)	NC_000017.10:g.41243626_41243630del	(Likely) pathogenic	1 lab	4b47cc7002
3:38628904 SCN5A C>T	3	38628904	38628904	C	T	SCN5A	c.2423G>A	NM_001099404.2	NP_001092874.1:p.(Arg808His)	NC_000003.11:g.38628904C>T	(Likely) pathogenic	1 lab	4b4bbc4031
4:77661356 SHROOM3 G>T	4	77661356	77661356	G	T	SHROOM3	c.2030G>T	NM_020859.4	NP_065910.3:p.(Ser677Ile)	NC_000004.11:g.77661356G>T	VUS	1 lab	4b4c26b03a
6:33403320 SYNGAP1 T>C	6	33403320	33403320	T	C	SYNGAP1	c.692T>C	NM_006772.3	NP_006763.2:p.(Phe231Ser)	NC_000006.11:g.33403320T>C	VUS	1 lab	4b5250e254
17:29556415 NF1 G>C	17	29556415	29556415	G	C	NF1	c.2782G>C	NM_000267.3	NP_000258.1:p.(Ala928Pro)	NC_000017.10:g.29556415G>C	VUS	1 lab	4b52b8a8ab
3:14173087 TMEM43 C>G	3	14173087	14173087	C	G	TMEM43	c.305C>G	NM_024334.3	NP_077310.1:p.(Ser102Cys)	NC_000003.11:g.14173087C>G	(Likely) benign	1 lab	4b5340a34f
6:26156950 H1-4 C>T	6	26156950	26156950	C	T	H1-4	c.332C>T	NM_005321.3	NP_005312.1:p.(Ala111Val)	NC_000006.11:g.26156950C>T	(Likely) benign	1 lab	4b54bc115b
8:145731920 GPT G>A	8	145731920	145731920	G	A	GPT	c.1168G>A	NM_005309.3	NP_005300.1:p.(Ala390Thr)	NC_000008.10:g.145731920G>A	VUS	1 lab	4b551222d4
5:14465657 TRIO T>C	5	14465657	14465657	T	C	TRIO	c.5671T>C	NM_007118.4	NP_009049.2:p.(Ser1891Pro)	NC_000005.9:g.14465657T>C	(Likely) benign	1 lab	4b5528bbfc
7:104730664 KMT2E C>A	7	104730664	104730664	C	A	KMT2E	c.1567C>A	NM_182931.3	NP_891847.1:p.(Pro523Thr)	NC_000007.13:g.104730664C>A	(Likely) benign	1 lab	4b5696f9b8
7:35242076 TBX20 C>T	7	35242076	35242076	C	T	TBX20	c.1310G>A	NM_001077653.2	NP_001071121.1:p.(Arg437His)	NC_000007.13:g.35242076C>T	VUS	1 lab	4b5a25b1ea
12:56578854 SMARCC2 T>C	12	56578854	56578854	T	C	SMARCC2	c.359A>G	NM_003075.5	NP_003066.2:p.(Asn120Ser)	NC_000012.11:g.56578854T>C	VUS	1 lab	4b5abafc6a
20:42744749 JPH2 C>T	20	42744749	42744749	C	T	JPH2	c.1566G>A	NM_020433.5	NP_065166.2:p.(Arg522=)	NC_000020.10:g.42744749C>T	(Likely) benign	1 lab	4b5f073c48
1:27875055 AHDC1 C>T	1	27875055	27875055	C	T	AHDC1	c.3572G>A	NM_001029882.3	NP_001025053.1:p.(Ser1191Asn)	NC_000001.10:g.27875055C>T	(Likely) benign	1 lab	4b62606244
14:74961565 ISCA2 C>A	14	74961565	74961565	C	A	ISCA2	c.327C>A	NM_194279.4	NP_919255.2:p.(Asp109Glu)	NC_000014.8:g.74961565C>A	VUS	1 lab	4b6ede4d4e
15:28408274 HERC2 G>A	15	28408274	28408274	G	A	HERC2	c.10712C>T	NM_004667.6	NP_004658.3:p.(Ala3571Val)	NC_000015.9:g.28408274G>A	VUS	1 lab	4b77be57d0
5:6605532 NSUN2 C>A	5	6605532	6605532	C	A	NSUN2	c.1602-11G>T	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6605532C>A	(Likely) benign	1 lab	4b79d0c5ed
1:241667525 FH G>A	1	241667525	241667525	G	A	FH	c.925C>T	NM_000143.4	NP_000134.2:p.(Pro309Ser)	NC_000001.10:g.241667525G>A	VUS	1 lab	4b7ac9e65a
7:97488146 ASNS G>GT	7	97488146	97488153	G	GT	ASNS	c.775+19dup	NM_183356.4	NP_899199.2:p.?	NC_000007.13:g.97488153dup	(Likely) benign	1 lab	4b87d1eccc
1:197072988 ASPM A>C	1	197072988	197072988	A	C	ASPM	c.5393T>G	NM_018136.5	NP_060606.3:p.(Phe1798Cys)	NC_000001.10:g.197072988A>C	VUS	1 lab	4b8910fc92
9:98209292 PTCH1 A>G	9	98209292	98209292	A	G	PTCH1	c.4246T>C	NM_000264.5	NP_000255.2:p.(Phe1416Leu)	NC_000009.11:g.98209292A>G	VUS	1 lab	4b899619a5
14:102472429 DYNC1H1 G>A	14	102472429	102472429	G	A	DYNC1H1	c.5638G>A	NM_001376.5	NP_001367.2:p.(Val1880Ile)	NC_000014.8:g.102472429G>A	VUS	1 lab	4b8a61bf26
X:153138679 L1CAM T>A	X	153138679	153138679	T	A	L1CAM	c.91+4A>T	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153138679T>A	(Likely) benign	1 lab	4b8c9974ca
11:16633809 SOX6 T>G	11	16633809	16633809	T	G	SOX6	c.-184-2A>C	NM_001367872.1	NP_001354801.1:p.?	NC_000011.9:g.16633809T>G	VUS	1 lab	4b8cfb1bbc
9:734854 KANK1 C>G	9	734854	734854	C	G	KANK1	c.3333+19C>G	NM_001256877.3	NP_001243806.1:p.?	NC_000009.11:g.734854C>G	(Likely) benign	1 lab	4b91d77f40
14:21878122 CHD8 C>A	14	21878122	21878122	C	A	CHD8	c.2252G>T	NM_001170629.2	NP_001164100.1:p.(Trp751Leu)	NC_000014.8:g.21878122C>A	(Likely) pathogenic	1 lab	4b986bb77e
11:694955 DEAF1 GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCCGCC>G	11	694955	695003	GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACCGCCGCC	G	DEAF1	c.48_92del	NM_021008.4	NP_066288.2:p.(Val19_Ala33del)	NC_000011.9:g.694959_695003del	(Likely) benign	1 lab	4b98d5dcaa
9:22008890 CDKN2B G>A	9	22008890	22008890	G	A	CDKN2B	c.63C>T	NM_004936.4	NP_004927.2:p.(Ala21=)	NC_000009.11:g.22008890G>A	(Likely) benign	1 lab	4b98d89627
11:125830922 CDON C>A	11	125830922	125830922	C	A	CDON	c.3710G>T	NM_016952.5	NP_058648.4:p.(Gly1237Val)	NC_000011.9:g.125830922C>A	VUS	1 lab	4b9cf124c8
16:1129912 SSTR5 A>G	16	1129912	1129912	A	G	SSTR5	c.1044A>G	NM_001053.4	NP_001044.1:p.(Pro348=)	NC_000016.9:g.1129912A>G	(Likely) benign	1 lab	4ba781f058
11:70653133 SHANK2 G>C	11	70653133	70653133	G	C	SHANK2	c.1637C>G	NM_012309.5	NP_036441.2:p.(Pro546Arg)	NC_000011.9:g.70653133G>C	VUS	1 lab	4baaecbf31
3:37053521 MLH1 A>T	3	37053521	37053521	A	T	MLH1	c.608A>T	NM_000249.4	NP_000240.1:p.(Asp203Val)	NC_000003.11:g.37053521A>T	VUS	1 lab	4c1331c17c
17:26851028 FOXN1 C>T	17	26851028	26851028	C	T	FOXN1	c.41C>T	NM_003593.3	NP_003584.2:p.(Pro14Leu)	NC_000017.10:g.26851028C>T	VUS	1 lab	4bb07bc442
2:179611842 TTN GTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA>G	2	179611842	179611883	GTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAA	G	TTN	c.15252_15284del	NM_133379.5	NP_596870.2:p.(Thr5102_Glu5112del)	NC_000002.11:g.179611851_179611883del	(Likely) benign	1 lab	4bb6074db4
11:118373465 KMT2A TTCA>T	11	118373465	118373470	TTCA	T	KMT2A	c.6861_6863del	NM_001197104.2	NP_001184033.1:p.(Ser2289del)	NC_000011.9:g.118373468_118373470del	VUS	1 lab	4bba1c1a09
12:7242657 C1R G>A	12	7242657	7242657	G	A	C1R	c.419C>T	NM_001733.7	NP_001724.4:p.(Ala140Val)	NC_000012.11:g.7242657G>A	VUS	1 lab	4bbdd98d59
17:19250624 B9D1 A>G	17	19250624	19250624	A	G	B9D1	c.362T>C	NM_015681.5	NP_056496.1:p.(Met121Thr)	NC_000017.10:g.19250624A>G	VUS	1 lab	4bbee46164
14:24718515 TGM1 G>A	14	24718515	24718515	G	A	TGM1	c.*4C>T	NM_000359.3	NP_000350.1:p.?	NC_000014.8:g.24718515G>A	(Likely) benign	1 lab	4bc37e578d
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTG	14	92537354	92537378	C	CCTGCTGCTGCTGCTGCTG	ATXN3	c.898_915dup	NM_004993.6	NP_004984.2:p.(Gln300_Gln305dup)	NC_000014.8:g.92537361_92537378dup	VUS	1 lab	4823df6b23
9:140002989 MAN1B1 T>C	9	140002989	140002989	T	C	MAN1B1	c.2046T>C	NM_016219.5	NP_057303.2:p.(Asp682=)	NC_000009.11:g.140002989T>C	(Likely) benign	1 lab	4bc39531c3
4:170429439 NEK1 T>C	4	170429439	170429439	T	C	NEK1	c.1709A>G	NM_012224.4	NP_036356.1:p.(Asn570Ser)	NC_000004.11:g.170429439T>C	VUS	1 lab	4bc440ed41
16:1815106 MAPK8IP3 C>T	16	1815106	1815106	C	T	MAPK8IP3	c.2352C>T	NM_001040439.2	NP_001035529.1:p.(Ala784=)	NC_000016.9:g.1815106C>T	(Likely) benign	1 lab	4bc56bd76c
6:7231960 RREB1 G>A	6	7231960	7231960	G	A	RREB1	c.3628G>A	NM_001003699.4	NP_001003699.1:p.(Gly1210Arg)	NC_000006.11:g.7231960G>A	VUS	1 lab	4bc8a88a67
1:209969902 IRF6 G>C	1	209969902	209969902	G	C	IRF6	c.175-5C>G	NM_006147.4	NP_006138.1:p.?	NC_000001.10:g.209969902G>C	(Likely) benign	1 lab	4bcd48a71e
2:149221413 MBD5 G>A	2	149221413	149221413	G	A	MBD5	c.322G>A	NM_018328.5	NP_060798.2:p.(Ala108Thr)	NC_000002.11:g.149221413G>A	VUS	1 lab	4bd0d2433a
1:11856390 MTHFR A>G	1	11856390	11856390	A	G	MTHFR	c.776T>C	NM_001330358.2	NP_001317287.1:p.(Val259Ala)	NC_000001.10:g.11856390A>G	VUS	1 lab	4bd136cb91
8:2088753 MYOM2 T>C	8	2088753	2088753	T	C	MYOM2	c.3908T>C	NM_003970.4	NP_003961.3:p.(Phe1303Ser)	NC_000008.10:g.2088753T>C	VUS	1 lab	4bd1390522
1:115262367 CSDE1 A>G	1	115262367	115262367	A	G	CSDE1	c.2098-4T>C	NM_001130523.3	NP_001123995.1:p.?	NC_000001.10:g.115262367A>G	(Likely) benign	1 lab	4bdc5a76e4
1:236912533 ACTN2 T>C	1	236912533	236912533	T	C	ACTN2	c.1625T>C	NM_001103.4	NP_001094.1:p.(Met542Thr)	NC_000001.10:g.236912533T>C	VUS	1 lab	4be0799fbe
9:120475176 TLR4 G>A	9	120475176	120475176	G	A	TLR4	c.770G>A	NM_138554.5	NP_612564.1:p.(Arg257His)	NC_000009.11:g.120475176G>A	VUS	1 lab	4be134aa11
3:124160810 KALRN C>T	3	124160810	124160810	C	T	KALRN	c.3211C>T	NM_001024660.5	NP_001019831.2:p.(Arg1071Trp)	NC_000003.11:g.124160810C>T	VUS	1 lab	4be82c7d7f
3:38647435 SCN5A C>G	3	38647435	38647435	C	G	SCN5A	c.1338+7G>C	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38647435C>G	(Likely) benign	1 lab	4be9aeb8d5
1:228399920 OBSCN G>A	1	228399920	228399920	G	A	OBSCN	c.436G>A	NM_052843.4	NP_443075.3:p.(Asp146Asn)	NC_000001.10:g.228399920G>A	VUS	1 lab	4bf353fee0
19:5221029 PTPRS T>C	19	5221029	5221029	T	C	PTPRS	c.3437A>G	NM_002850.4	NP_002841.3:p.(Gln1146Arg)	NC_000019.9:g.5221029T>C	VUS	1 lab	4bfc6b2e6c
3:171431825 PLD1 CTAT>C	3	171431825	171431830	CTAT	C	PLD1	c.766_768del	NM_002662.5	NP_002653.1:p.(Ile256del)	NC_000003.11:g.171431828_171431830del	VUS	1 lab	4bfdaf8f29
1:65858474 DNAJC6 C>T	1	65858474	65858474	C	T	DNAJC6	c.1829C>T	NM_001256864.2	NP_001243793.1:p.(Pro610Leu)	NC_000001.10:g.65858474C>T	VUS	1 lab	4c018a0518
2:203383771 BMPR2 C>CATA	2	203383771	203383772	C	CATA	BMPR2	c.848_849insATA	NM_001204.7	NP_001195.2:p.(Pro283_Asn284insTyr)	NC_000002.11:g.203383771_203383772insATA	VUS	1 lab	4c021bd82e
3:178954033 PIK3CA A>G	3	178954033	178954033	A	G	PIK3CA	c.*1881A>G	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178954033A>G	VUS	1 lab	4c06743fc5
10:50680516 ERCC6 C>T	10	50680516	50680516	C	T	ERCC6	c.2830G>A	NM_000124.4	NP_000115.1:p.(Ala944Thr)	NC_000010.10:g.50680516C>T	VUS	1 lab	4c0e5266f4
14:24617646 RNF31 T>C	14	24617646	24617646	T	C	RNF31	c.2T>C	NM_001310332.2	NP_001297261.1:p.(Met1?)	NC_000014.8:g.24617646T>C	VUS	1 lab	4c16ffbb72
9:399261 DOCK8 T>C	9	399261	399261	T	C	DOCK8	c.3234+2T>C	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.399261T>C	(Likely) pathogenic	1 lab	4c1765dcfb
6:29910752 HLA-A G>C	6	29910752	29910752	G	C	HLA-A	c.292G>C	NM_002116.8	NP_002107.3:p.(Asp98His)	NC_000006.11:g.29910752G>C	(Likely) benign	1 lab	4c19ac5c39
6:111631280 REV3L G>A	6	111631280	111631280	G	A	REV3L	c.8584C>T	NM_001286431.2	NP_001273360.1:p.(Arg2862Cys)	NC_000006.11:g.111631280G>A	VUS	1 lab	4c1c828aec
3:48508376 TREX1 C>T	3	48508376	48508376	C	T	TREX1	c.322C>T	NM_033629.6	NP_338599.1:p.(Leu108Phe)	NC_000003.11:g.48508376C>T	VUS	1 lab	4c1e435f35
18:59774081 PIGN C>T	18	59774081	59774081	C	T	PIGN	c.1708G>A	NM_176787.5	NP_789744.1:p.(Ala570Thr)	NC_000018.9:g.59774081C>T	VUS	1 lab	4c1ef25f58
10:81049554 ZMIZ1 T>G	10	81049554	81049554	T	G	ZMIZ1	c.448T>G	NM_020338.4	NP_065071.1:p.(Ser150Ala)	NC_000010.10:g.81049554T>G	VUS	1 lab	4c331d88e2
X:69668463 DLG3 A>G	X	69668463	69668463	A	G	DLG3	c.358-300A>G	NM_021120.4	NP_066943.2:p.?	NC_000023.10:g.69668463A>G	(Likely) benign	1 lab	4c33b15ae7
10:73567617 CDH23 G>A	10	73567617	73567617	G	A	CDH23	c.8575G>A	NM_022124.6	NP_071407.4:p.(Ala2859Thr)	NC_000010.10:g.73567617G>A	VUS	1 lab	4c3661816a
1:245021372 HNRNPU C>T	1	245021372	245021372	C	T	HNRNPU	c.1435G>A	NM_031844.3	NP_114032.2:p.(Val479Ile)	NC_000001.10:g.245021372C>T	VUS	1 lab	4c3722b905
21:46308677 ITGB2 AG>A	21	46308677	46308678	AG	A	ITGB2	c.2010del	NM_000211.5	NP_000202.3:p.(Trp671GlyfsTer44)	NC_000021.8:g.46308678del	(Likely) pathogenic	1 lab	4c3cda82d2
9:73255559 TRPM3 G>C	9	73255559	73255559	G	C	TRPM3	c.904C>G	NM_020952.6	NP_066003.3:p.(Pro302Ala)	NC_000009.11:g.73255559G>C	VUS	1 lab	4c421fb554
1:47685455 TAL1 T>C	1	47685455	47685455	T	C	TAL1	c.933=	NM_003189.5	NP_003180.1:p.(Lys311=)	NC_000001.10:g.47685455T>C	(Likely) benign	1 lab	4c47743667
11:118307529 KMT2A C>A	11	118307529	118307529	C	A	KMT2A	c.302C>A	NM_001197104.2	NP_001184033.1:p.(Ser101Ter)	NC_000011.9:g.118307529C>A	(Likely) pathogenic	1 lab	4c529a2fc1
7:152007115 KMT2C A>G	7	152007115	152007115	A	G	KMT2C	c.785T>C	NM_170606.3	NP_733751.2:p.(Val262Ala)	NC_000007.13:g.152007115A>G	(Likely) benign	1 lab	4c53a73a25
11:125888224 CDON C>T	11	125888224	125888224	C	T	CDON	c.640+1G>A	NM_016952.5	NP_058648.4:p.?	NC_000011.9:g.125888224C>T	VUS	1 lab	4c54df2f85
17:1628404 WDR81 G>A	17	1628404	1628404	G	A	WDR81	c.151G>A	NM_001163809.2	NP_001157281.1:p.(Gly51Ser)	NC_000017.10:g.1628404G>A	VUS	1 lab	4c5ad4ef9d
17:4904700 KIF1C C>T	17	4904700	4904700	C	T	KIF1C	c.363+4C>T	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4904700C>T	(Likely) benign	1 lab	4c5b805de0
16:85698651 GSE1 C>G	16	85698651	85698651	C	G	GSE1	c.2363C>G	NM_001134473.3	NP_001127945.1:p.(Ala788Gly)	NC_000016.9:g.85698651C>G	VUS	1 lab	4c5c506112
X:31792192 DMD T>C	X	31792192	31792192	T	C	DMD	c.7427A>G	NM_004006.3	NP_003997.2:p.(Asn2476Ser)	NC_000023.10:g.31792192T>C	VUS	1 lab	4c61d86cc3
2:152531781 NEB C>A	2	152531781	152531781	C	A	NEB	c.3879+20G>T	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152531781C>A	(Likely) benign	1 lab	4c620d7f4a
4:41750528 PHOX2B T>C	4	41750528	41750528	T	C	PHOX2B	c.100A>G	NM_003924.4	NP_003915.2:p.(Ser34Gly)	NC_000004.11:g.41750528T>C	VUS	1 lab	4c663aae13
X:12735746 FRMPD4 G>T	X	12735746	12735746	G	T	FRMPD4	c.2801G>T	NM_014728.3	NP_055543.2:p.(Arg934Leu)	NC_000023.10:g.12735746G>T	VUS	1 lab	4c67bc8cef
1:19565735 EMC1 C>T	1	19565735	19565735	C	T	EMC1	c.1016G>A	NM_015047.3	NP_055862.1:p.(Arg339Gln)	NC_000001.10:g.19565735C>T	VUS	1 lab	4c694c576d
X:152858098 CCNQ G>A	X	152858098	152858098	G	A	CCNQ	c.523C>T	NM_152274.5	NP_689487.2:p.(Arg175Trp)	NC_000023.10:g.152858098G>A	VUS	1 lab	4c6d590ad6
7:143018837 CLCN1 C>G	7	143018837	143018837	C	G	CLCN1	c.592C>G	NM_000083.3	NP_000074.3:p.(Leu198Val)	NC_000007.13:g.143018837C>G	(Likely) pathogenic	1 lab	4c756b5b71
5:149505125 PDGFRB T>G	5	149505125	149505125	T	G	PDGFRB	c.1690A>C	NM_002609.4	NP_002600.1:p.(Ile564Leu)	NC_000005.9:g.149505125T>G	VUS	1 lab	4c7c2bbdf2
21:36164893 RUNX1 TC>T	21	36164893	36164894	TC	T	RUNX1	c.900del	NM_001001890.3	NP_001001890.1:p.(Thr301GlnfsTer266)	NC_000021.8:g.36164894del	(Likely) pathogenic	1 lab	4c7dfae97e
2:42997283 HAAO C>CA	2	42997283	42997284	C	CA	HAAO	c.483dup	NM_012205.3	NP_036337.2:p.(Asp162Ter)	NC_000002.11:g.42997284dup	(Likely) pathogenic	1 lab	4c7ef1a5d5
2:179397623 TTN CTT>C	2	179397623	179397628	CTT	C	TTN	c.103717_103718del	NM_001267550.2	NP_001254479.2:p.(Lys34573AspfsTer3)	NC_000002.11:g.179397627_179397628del	(Likely) pathogenic	1 lab	4c8434fafd
1:16258229 SPEN G>A	1	16258229	16258229	G	A	SPEN	c.5494G>A	NM_015001.3	NP_055816.2:p.(Ala1832Thr)	NC_000001.10:g.16258229G>A	VUS	1 lab	4c86c41d35
17:39742713 KRT14 C>T	17	39742713	39742713	C	T	KRT14	c.374G>A	NM_000526.5	NP_000517.3:p.(Arg125His)	NC_000017.10:g.39742713C>T	(Likely) pathogenic	1 lab	4c876b8191
5:112151290 APC G>A	5	112151290	112151290	G	A	APC	c.933G>A	NM_000038.6	NP_000029.2:p.(Lys311=)	NC_000005.9:g.112151290G>A	(Likely) pathogenic	1 lab	4c89787645
10:123286254 FGFR2 TGTTTA>T	10	123286254	123286259	TGTTTA	T	FGFR2	c.8_12del	NM_001320654.2	NP_001307583.1:p.(Leu3Ter)	NC_000010.10:g.123286255_123286259del	(Likely) pathogenic	1 lab	4c91ce41ff
16:56906614 SLC12A3 T>C	16	56906614	56906614	T	C	SLC12A3	c.1011T>C	NM_000339.3	NP_000330.3:p.(Asp337=)	NC_000016.9:g.56906614T>C	(Likely) benign	1 lab	4c978cd441
12:6442346 TNFRSF1A A>G	12	6442346	6442346	A	G	TNFRSF1A	c.473-33T>C	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6442346A>G	(Likely) benign	1 lab	4c9cca5cf3
2:179464475 TTN C>T	2	179464475	179464475	C	T	TTN	c.56153G>A	NM_001267550.2	NP_001254479.2:p.(Trp18718Ter)	NC_000002.11:g.179464475C>T	(Likely) pathogenic	1 lab	4ca0a3b2d1
1:156106042 LMNA C>T	1	156106042	156106042	C	T	LMNA	c.1195C>T	NM_170707.4	NP_733821.1:p.(Arg399Cys)	NC_000001.10:g.156106042C>T	VUS	1 lab	4ca1eb1a40
1:236902634 ACTN2 G>A	1	236902634	236902634	G	A	ACTN2	c.909G>A	NM_001103.4	NP_001094.1:p.(Trp303Ter)	NC_000001.10:g.236902634G>A	(Likely) pathogenic	1 lab	4cad319a13
19:33878839 PEPD A>G	19	33878839	33878839	A	G	PEPD	c.1301T>C	NM_000285.4	NP_000276.2:p.(Phe434Ser)	NC_000019.9:g.33878839A>G	VUS	1 lab	4cae547d8f
8:27369334 EPHX2 A>G	8	27369334	27369334	A	G	EPHX2	c.661-19A>G	NM_001979.6	NP_001970.2:p.?	NC_000008.10:g.27369334A>G	(Likely) benign	1 lab	4cae8f423c
8:30694716 TEX15 A>T	8	30694716	30694716	A	T	TEX15	c.9084T>A	NM_001350162.2	NP_001337091.1:p.(Tyr3028Ter)	NC_000008.10:g.30694716A>T	(Likely) pathogenic	1 lab	4cb31b8e3f
X:32466693 DMD A>G	X	32466693	32466693	A	G	DMD	c.3297T>C	NM_004010.3	NP_004001.1:p.(Asn1099=)	NC_000023.10:g.32466693A>G	(Likely) benign	1 lab	4cb7b62892
12:21958932 ABCC9 A>T	12	21958932	21958932	A	T	ABCC9	c.4512T>A	NM_020297.4	NP_064693.2:p.(Ala1504=)	NC_000012.11:g.21958932A>T	(Likely) benign	1 lab	4cb8c387f7
4:113565886 LARP7 AAAG>A	4	113565886	113565892	AAAG	A	LARP7	c.86_88del	NM_001267039.2	NP_001253968.1:p.(Glu29del)	NC_000004.11:g.113565890_113565892del	(Likely) benign	1 lab	4cba895749
5:77473165 AP3B1 A>G	5	77473165	77473165	A	G	AP3B1	c.891T>C	NM_001271769.2	NP_001258698.1:p.(Asn297=)	NC_000005.9:g.77473165A>G	(Likely) benign	1 lab	4cc404b91e
17:7802658 CHD3 C>T	17	7802658	7802658	C	T	CHD3	c.2521-3C>T	NM_001005271.3	NP_001005271.2:p.?	NC_000017.10:g.7802658C>T	(Likely) benign	1 lab	4ccfdc865f
X:119590644 LAMP2 T>A	X	119590644	119590644	T	A	LAMP2	c.65-20A>T	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119590644T>A	(Likely) benign	1 lab	4ccfe2c26a
10:64966946 JMJD1C T>C	10	64966946	64966946	T	C	JMJD1C	c.4483A>G	NM_032776.3	NP_116165.1:p.(Lys1495Glu)	NC_000010.10:g.64966946T>C	VUS	1 lab	4cd6cc67fb
15:44903064 SPG11 T>C	15	44903064	44903064	T	C	SPG11	c.3265A>G	NM_025137.4	NP_079413.3:p.(Met1089Val)	NC_000015.9:g.44903064T>C	(Likely) benign	1 lab	4cdc86f44b
3:122003774 CASR T>C	3	122003774	122003774	T	C	CASR	c.3003T>C	NM_001178065.2	NP_001171536.2:p.(Asn1001=)	NC_000003.11:g.122003774T>C	(Likely) benign	1 lab	4ce013b3c2
1:196577378 KCNT2 A>G	1	196577378	196577378	A	G	KCNT2	c.62T>C	NM_198503.5	NP_940905.2:p.(Leu21Pro)	NC_000001.10:g.196577378A>G	VUS	1 lab	4ce826d7d0
1:200977949 KIF21B T>C	1	200977949	200977949	T	C	KIF21B	c.395A>G	NM_017596.4	NP_060066.2:p.(Gln132Arg)	NC_000001.10:g.200977949T>C	VUS	1 lab	4ceac3b935
3:130699450 ATP2C1 A>G	3	130699450	130699450	A	G	ATP2C1	c.1766A>G	NM_001199179.3	NP_001186108.1:p.(Lys589Arg)	NC_000003.11:g.130699450A>G	VUS	1 lab	4cec3958bb
14:51239067 NIN C>G	14	51239067	51239067	C	G	NIN	c.933G>C	NM_020921.4	NP_065972.4:p.(Leu311=)	NC_000014.8:g.51239067C>G	(Likely) benign	1 lab	4ced48f956
14:23859601 MYH6 T>G	14	23859601	23859601	T	G	MYH6	c.3397A>C	NM_002471.4	NP_002462.2:p.(Lys1133Gln)	NC_000014.8:g.23859601T>G	VUS	1 lab	4cf1184259
22:35741775 TOM1 G>A	22	35741775	35741775	G	A	TOM1	c.1282G>A	NM_005488.3	NP_005479.1:p.(Val428Met)	NC_000022.10:g.35741775G>A	(Likely) benign	1 lab	4cf41ccee1
19:7132313 INSR C>T	19	7132313	7132313	C	T	INSR	c.2698G>A	NM_000208.4	NP_000199.2:p.(Val900Ile)	NC_000019.9:g.7132313C>T	VUS	1 lab	4ce89bb17d
10:19678527 MALRD1 A>AT	10	19678527	19678529	A	AT	MALRD1	c.4836dup	NM_001142308.3	NP_001135780.2:p.(Leu1613SerfsTer16)	NC_000010.10:g.19678529dup	VUS	1 lab	4cf4e5f7d2
10:105815625 COL17A1 GT>G	10	105815625	105815626	GT	G	COL17A1	c.1601del	NM_000494.4	NP_000485.3:p.(Asp534AlafsTer19)	NC_000010.10:g.105815626del	(Likely) pathogenic	1 lab	4cf5ffe662
1:154426970 IL6R A>C	1	154426970	154426970	A	C	IL6R	c.1073A>C	NM_000565.4	NP_000556.1:p.(Asp358Ala)	NC_000001.10:g.154426970A>C	(Likely) benign	1 lab	4cf995bfd3
1:228432182 OBSCN C>G	1	228432182	228432182	C	G	OBSCN	c.3391C>G	NM_052843.4	NP_443075.3:p.(Leu1131Val)	NC_000001.10:g.228432182C>G	VUS	1 lab	4cfb21a6f4
18:3452308 TGIF1 G>A	18	3452308	3452308	G	A	TGIF1	c.16+1805G>A	NM_173208.3	NP_775300.1:p.?	NC_000018.9:g.3452308G>A	VUS	1 lab	4cff063ea1
2:211540566 CPS1 T>C	2	211540566	211540566	T	C	CPS1	c.4274+2T>C	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211540566T>C	(Likely) pathogenic	1 lab	4d006b2f30
22:24906738 UPB1 C>T	22	24906738	24906738	C	T	UPB1	c.386C>T	NM_016327.3	NP_057411.1:p.(Thr129Met)	NC_000022.10:g.24906738C>T	(Likely) pathogenic	1 lab	4d04007f28
16:1260767 CACNA1H G>A	16	1260767	1260767	G	A	CACNA1H	c.4039-20G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260767G>A	(Likely) benign	1 lab	4d043a4604
5:66460638 MAST4 G>GC	5	66460638	66460644	G	GC	MAST4	c.5070dup	NM_015183.3	NP_055998.1:p.(Ser1691GlnfsTer14)	NC_000005.9:g.66460644dup	VUS	1 lab	4d0574f141
12:49427476 KMT2D G>A	12	49427476	49427476	G	A	KMT2D	c.11012C>T	NM_003482.4	NP_003473.3:p.(Pro3671Leu)	NC_000012.11:g.49427476G>A	VUS	1 lab	4d09495462
6:32551958 HLA-DRB1 C>T	6	32551958	32551958	C	T	HLA-DRB1	c.298G>A	NM_002124.4	NP_002115.2:p.(Ala100Thr)	NC_000006.11:g.32551958C>T	(Likely) benign	1 lab	4d095952f6
12:4768347 NDUFA9 A>G	12	4768347	4768347	A	G	NDUFA9	c.552+4A>G	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4768347A>G	VUS	1 lab	4d34298d59
18:28913591 DSG1 C>T	18	28913591	28913591	C	T	DSG1	c.724C>T	NM_001942.4	NP_001933.2:p.(Arg242Ter)	NC_000018.9:g.28913591C>T	(Likely) pathogenic	1 lab	4d10bfe21c
19:55526345 GP6 T>G	19	55526345	55526345	T	G	GP6	c.968A>C	NM_001083899.2	NP_001077368.2:p.(Lys323Thr)	NC_000019.9:g.55526345T>G	(Likely) benign	1 lab	4d10d16fd7
2:16082295 MYCN T>A	2	16082295	16082295	T	A	MYCN	c.109T>A	NM_005378.6	NP_005369.2:p.(Phe37Ile)	NC_000002.11:g.16082295T>A	VUS	1 lab	4d11f63493
X:153296099 MECP2 C>T	X	153296099	153296099	C	T	MECP2	c.1180G>A	NM_004992.4	NP_004983.1:p.(Glu394Lys)	NC_000023.10:g.153296099C>T	VUS	1 lab	4d1adb1bb0
21:46309983 ITGB2 C>T	21	46309983	46309983	C	T	ITGB2	c.1567G>A	NM_000211.5	NP_000202.3:p.(Asp523Asn)	NC_000021.8:g.46309983C>T	VUS	1 lab	4d1c339940
16:89836323 FANCA C>T	16	89836323	89836323	C	T	FANCA	c.2426G>A	NM_000135.4	NP_000126.2:p.(Gly809Asp)	NC_000016.9:g.89836323C>T	(Likely) benign	1 lab	4d1c628213
1:1458285 ATAD3A A>G	1	1458285	1458285	A	G	ATAD3A	c.906+6A>G	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1458285A>G	(Likely) benign	1 lab	4d1d685a39
5:147475488 SPINK5 A>G	5	147475488	147475488	A	G	SPINK5	c.882+20A>G	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147475488A>G	(Likely) benign	1 lab	4d34c17f8e
6:143780270 PEX3 A>G	6	143780270	143780270	A	G	PEX3	c.122A>G	NM_003630.3	NP_003621.1:p.(Gln41Arg)	NC_000006.11:g.143780270A>G	VUS	1 lab	4d20c6be6e
14:102481479 DYNC1H1 C>T	14	102481479	102481479	C	T	DYNC1H1	c.7052C>T	NM_001376.5	NP_001367.2:p.(Ala2351Val)	NC_000014.8:g.102481479C>T	VUS	1 lab	4d22ae9d26
16:2120475 TSC2 C>G	16	2120475	2120475	C	G	TSC2	c.1735C>G	NM_000548.5	NP_000539.2:p.(Pro579Ala)	NC_000016.9:g.2120475C>G	(Likely) benign	1 lab	4d2634dba6
11:111779576 CRYAB C>A	11	111779576	111779576	C	A	CRYAB	c.440G>T	NM_001885.3	NP_001876.1:p.(Gly147Val)	NC_000011.9:g.111779576C>A	VUS	1 lab	4d282fac01
10:123256134 FGFR2 C>T	10	123256134	123256134	C	T	FGFR2	c.1775G>A	NM_000141.5	NP_000132.3:p.(Arg592His)	NC_000010.10:g.123256134C>T	VUS	1 lab	4d29591744
6:86332358 SYNCRIP T>A	6	86332358	86332358	T	A	SYNCRIP	c.850A>T	NM_001159677.2	NP_001153149.1:p.(Lys284Ter)	NC_000006.11:g.86332358T>A	VUS	1 lab	4d2a33d7ce
2:179392182 TTN C>T	2	179392182	179392182	C	T	TTN	c.107671G>A	NM_001267550.2	NP_001254479.2:p.(Gly35891Ser)	NC_000002.11:g.179392182C>T	VUS	1 lab	4d2a549380
3:4354871 SETMAR A>C	3	4354871	4354871	A	C	SETMAR	c.446A>C	NM_006515.3	NP_006506.3:p.(Lys149Thr)	NC_000003.11:g.4354871A>C	VUS	1 lab	4d31a3fb75
18:34232668 FHOD3 G>A	18	34232668	34232668	G	A	FHOD3	c.1422G>A	NM_001281740.3	NP_001268669.1:p.(Trp474Ter)	NC_000018.9:g.34232668G>A	VUS	1 lab	4d351a8c8b
X:13774824 OFD1 A>G	X	13774824	13774824	A	G	OFD1	c.1349A>G	NM_003611.3	NP_003602.1:p.(Gln450Arg)	NC_000023.10:g.13774824A>G	VUS	1 lab	4d3c4081b4
10:11330462 CELF2 A>G	10	11330462	11330462	A	G	CELF2	c.923A>G	NM_006561.4	NP_006552.3:p.(Asn308Ser)	NC_000010.10:g.11330462A>G	VUS	1 lab	4d3e89d1ce
X:24948670 POLA1 C>T	X	24948670	24948670	C	T	POLA1	c.4243+4C>T	NM_016937.4	NP_058633.2:p.?	NC_000023.10:g.24948670C>T	(Likely) benign	1 lab	4d4138d0b1
20:10639210 JAG1 G>T	20	10639210	10639210	G	T	JAG1	c.600C>A	NM_000214.3	NP_000205.1:p.(Cys200Ter)	NC_000020.10:g.10639210G>T	(Likely) pathogenic	1 lab	4d423ce483
8:108509559 ANGPT1 C>A	8	108509559	108509559	C	A	ANGPT1	c.228G>T	NM_001146.5	NP_001137.2:p.(Pro76=)	NC_000008.10:g.108509559C>A	(Likely) benign	1 lab	4d432cc5ad
1:36354131 AGO1 T>G	1	36354131	36354131	T	G	AGO1	c.129T>G	NM_012199.5	NP_036331.1:p.(Phe43Leu)	NC_000001.10:g.36354131T>G	VUS	1 lab	4d48a821e0
1:35227030 GJB4 G>A	1	35227030	35227030	G	A	GJB4	c.175G>A	NM_153212.3	NP_694944.1:p.(Gly59Ser)	NC_000001.10:g.35227030G>A	VUS	1 lab	4d4964f7f3
X:119005501 RNF113A C>T	X	119005501	119005501	C	T	RNF113A	c.76G>A	NM_006978.3	NP_008909.1:p.(Gly26Arg)	NC_000023.10:g.119005501C>T	VUS	1 lab	4d4a230573
3:49459959 NICN1 C>G	3	49459959	49459959	C	G	NICN1				NC_000003.11:g.49459959C>G	VUS	1 lab	4d4d295039
1:987200 AGRN C>T	1	987200	987200	C	T	AGRN	c.5651+5C>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.987200C>T	(Likely) benign	1 lab	4d529f00c0
10:76748783 KAT6B C>T	10	76748783	76748783	C	T	KAT6B	c.2542C>T	NM_012330.4	NP_036462.2:p.(Leu848Phe)	NC_000010.10:g.76748783C>T	VUS	1 lab	4d54582290
11:120292570 ARHGEF12 T>A	11	120292570	120292570	T	A	ARHGEF12	c.348+9T>A	NM_015313.3	NP_056128.1:p.?	NC_000011.9:g.120292570T>A	(Likely) benign	1 lab	4d57b4d53f
16:4933690 PPL G>A	16	4933690	4933690	G	A	PPL	c.4966C>T	NM_002705.5	NP_002696.4:p.(Arg1656Cys)	NC_000016.9:g.4933690G>A	VUS	1 lab	4d5a409c6a
8:68346383 CPA6 G>A	8	68346383	68346383	G	A	CPA6	c.931C>T	NM_020361.5	NP_065094.3:p.(Arg311Ter)	NC_000008.10:g.68346383G>A	VUS	1 lab	4d5c1672f3
7:151423580 PRKAG2 A>T	7	151423580	151423580	A	T	PRKAG2	c.467-50857T>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151423580A>T	(Likely) benign	1 lab	4d5fd9a810
2:11911564 LPIN1 C>T	2	11911564	11911564	C	T	LPIN1	c.355C>T	NM_145693.4	NP_663731.1:p.(Gln119Ter)	NC_000002.11:g.11911564C>T	(Likely) pathogenic	1 lab	4d60e7f012
17:78081352 GAA G>T	17	78081352	78081352	G	T	GAA	c.693-4G>T	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081352G>T	(Likely) benign	1 lab	4d61ade3b4
22:19883123 TXNRD2 C>T	22	19883123	19883123	C	T	TXNRD2	c.775-19G>A	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19883123C>T	(Likely) benign	1 lab	4d637d73a7
16:85697083 GSE1 G>A	16	85697083	85697083	G	A	GSE1	c.2195G>A	NM_001134473.3	NP_001127945.1:p.(Arg732Gln)	NC_000016.9:g.85697083G>A	VUS	1 lab	4d644f24fc
18:31319135 ASXL3 TA>T	18	31319135	31319136	TA	T	ASXL3	c.1768del	NM_030632.3	NP_085135.1:p.(Ile590Ter)	NC_000018.9:g.31319136del	(Likely) pathogenic	1 lab	4d67e615c3
17:10537388 MYH3 C>T	17	10537388	10537388	C	T	MYH3	c.4468G>A	NM_002470.4	NP_002461.2:p.(Glu1490Lys)	NC_000017.10:g.10537388C>T	VUS	1 lab	4d707bfbb2
15:58857378 LIPC A>G	15	58857378	58857378	A	G	LIPC	c.1388+1456A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58857378A>G	(Likely) benign	1 lab	4d72071837
6:32006314 CYP21A2 C>T	6	32006314	32006314	C	T	CYP21A2	c.115C>T	NM_000500.9	NP_000491.4:p.(His39Tyr)	NC_000006.11:g.32006314C>T	(Likely) benign	1 lab	4d74abbbad
16:19087121 COQ7 A>G	16	19087121	19087121	A	G	COQ7	c.446A>G	NM_016138.5	NP_057222.2:p.(Tyr149Cys)	NC_000016.9:g.19087121A>G	VUS	1 lab	4d752aa416
1:9324571 H6PD T>C	1	9324571	9324571	T	C	H6PD	c.2019T>C	NM_004285.4	NP_004276.2:p.(Tyr673=)	NC_000001.10:g.9324571T>C	(Likely) benign	1 lab	4d75c51c7b
9:5081780 JAK2 G>A	9	5081780	5081780	G	A	JAK2	c.2490G>A	NM_004972.4	NP_004963.1:p.(Leu830=)	NC_000009.11:g.5081780G>A	(Likely) benign	1 lab	4d75f64ca2
X:17394337 NHS C>T	X	17394337	17394337	C	T	NHS	c.457C>T	NM_198270.4	NP_938011.1:p.(Leu153Phe)	NC_000023.10:g.17394337C>T	VUS	1 lab	4d77d6d21d
17:29550577 NF1 A>T	17	29550577	29550577	A	T	NF1	c.1837A>T	NM_000267.3	NP_000258.1:p.(Lys613Ter)	NC_000017.10:g.29550577A>T	(Likely) pathogenic	1 lab	4d7878ba16
6:56481706 DST G>A	6	56481706	56481706	G	A	DST	c.6559C>T	NM_001723.7	NP_001714.1:p.(Gln2187Ter)	NC_000006.11:g.56481706G>A	(Likely) pathogenic	1 lab	4d7995dc17
11:17409037 KCNJ11 C>T	11	17409037	17409037	C	T	KCNJ11	c.602G>A	NM_000525.4	NP_000516.3:p.(Arg201His)	NC_000011.9:g.17409037C>T	(Likely) pathogenic	1 lab	4d7d7c0203
12:53045395 KRT2 C>T	12	53045395	53045395	C	T	KRT2	c.532G>A	NM_000423.3	NP_000414.2:p.(Glu178Lys)	NC_000012.11:g.53045395C>T	(Likely) pathogenic	1 lab	4d841e97ff
12:54925136 NCKAP1L C>G	12	54925136	54925136	C	G	NCKAP1L	c.2599C>G	NM_005337.5	NP_005328.2:p.(Leu867Val)	NC_000012.11:g.54925136C>G	VUS	1 lab	4d873c96e5
6:15501422 JARID2 G>A	6	15501422	15501422	G	A	JARID2	c.2230G>A	NM_004973.4	NP_004964.2:p.(Asp744Asn)	NC_000006.11:g.15501422G>A	(Likely) benign	1 lab	4d89503165
22:19906367 TXNRD2 G>T	22	19906367	19906367	G	T	TXNRD2	c.374+16C>A	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19906367G>T	(Likely) benign	1 lab	4d8be1684b
5:176831093 F12 T>G	5	176831093	176831093	T	G	F12	c.1019-2A>C	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176831093T>G	(Likely) pathogenic	1 lab	4d8e0ca2c9
9:98242667 PTCH1 C>T	9	98242667	98242667	C	T	PTCH1	c.945+5G>A	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98242667C>T	VUS	1 lab	4d8f1c3fea
X:69719766 DLG3 A>G	X	69719766	69719766	A	G	DLG3	c.2012A>G	NM_021120.4	NP_066943.2:p.(Gln671Arg)	NC_000023.10:g.69719766A>G	VUS	1 lab	4d9440888a
4:1807890 FGFR3 A>C	4	1807890	1807890	A	C	FGFR3	c.1949A>C	NM_000142.5	NP_000133.1:p.(Lys650Thr)	NC_000004.11:g.1807890A>C	(Likely) pathogenic	1 lab	4d97aa8e66
11:62295714 AHNAK G>C	11	62295714	62295714	G	C	AHNAK	c.6175C>G	NM_001620.3	NP_001611.1:p.(Pro2059Ala)	NC_000011.9:g.62295714G>C	VUS	1 lab	4d98f624da
12:13720099 GRIN2B C>T	12	13720099	13720099	C	T	GRIN2B	c.2458G>A	NM_000834.5	NP_000825.2:p.(Gly820Arg)	NC_000012.11:g.13720099C>T	(Likely) pathogenic	1 lab	4d9c6ad524
1:228399766 OBSCN T>C	1	228399766	228399766	T	C	OBSCN	c.282T>C	NM_052843.4	NP_443075.3:p.(Ala94=)	NC_000001.10:g.228399766T>C	(Likely) benign	1 lab	4da5637698
18:21441717 LAMA3 C>T	18	21441717	21441717	C	T	LAMA3	c.4530C>T	NM_198129.4	NP_937762.2:p.(Pro1510=)	NC_000018.9:g.21441717C>T	(Likely) benign	1 lab	4da8121dc2
X:64957057 MSN C>G	X	64957057	64957057	C	G	MSN	c.1108C>G	NM_002444.3	NP_002435.1:p.(Arg370Gly)	NC_000023.10:g.64957057C>G	VUS	1 lab	4da9f05586
1:120484377 NOTCH2 T>C	1	120484377	120484377	T	C	NOTCH2	c.2753A>G	NM_024408.4	NP_077719.2:p.(Asn918Ser)	NC_000001.10:g.120484377T>C	VUS	1 lab	4dacd3f969
17:41243005 BRCA1 CTT>C	17	41243005	41243007	CTT	C	BRCA1	c.4139_4140del	NM_007294.4	NP_009225.1:p.(Glu1380GlyfsTer10)	NC_000017.10:g.41243006_41243007del	(Likely) pathogenic	1 lab	4db3c56a53
8:143959250 CYP11B1 T>C	8	143959250	143959250	T	C	CYP11B1	c.396-612A>G	NM_000497.4	NP_000488.3:p.?	NC_000008.10:g.143959250T>C	(Likely) benign	1 lab	4db82d0453
19:11138455 SMARCA4 T>C	19	11138455	11138455	T	C	SMARCA4	c.3216-5T>C	NM_001128849.3	NP_001122321.1:p.?	NC_000019.9:g.11138455T>C	(Likely) benign	1 lab	4db95e64f5
13:100637717 ZIC2 GGCGGCGGCGGCT>G	13	100637717	100637740	GGCGGCGGCGGCT	G	ZIC2	c.1392_1403del	NM_007129.5	NP_009060.2:p.(Ala467_Ala470del)	NC_000013.10:g.100637729_100637740del	VUS	1 lab	4dba1b6b4b
10:43617465 RET G>GT	10	43617465	43617466	G	GT	RET	c.2801+2dup	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43617466dup	(Likely) pathogenic	1 lab	4dc3aed255
10:50678762 ERCC6 C>A	10	50678762	50678762	C	A	ERCC6	c.3244G>T	NM_000124.4	NP_000115.1:p.(Ala1082Ser)	NC_000010.10:g.50678762C>A	VUS	1 lab	4dc4d5b8f0
12:57585144 LRP1 C>T	12	57585144	57585144	C	T	LRP1	c.7278C>T	NM_002332.3	NP_002323.2:p.(Ala2426=)	NC_000012.11:g.57585144C>T	(Likely) benign	1 lab	4dc74a1a3b
2:152534398 NEB G>GT	2	152534398	152534399	G	GT	NEB	c.3558dup	NM_001271208.2	NP_001258137.2:p.(Gln1187ThrfsTer3)	NC_000002.11:g.152534399dup	(Likely) pathogenic	1 lab	4dca1a039f
5:94859542 SKIC3 T>C	5	94859542	94859542	T	C	SKIC3	c.1453-4A>G	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94859542T>C	(Likely) benign	1 lab	4dcbb37b00
6:152469312 SYNE1 G>A	6	152469312	152469312	G	A	SYNE1	c.24631C>T	NM_033071.4	NP_149062.2:p.(Pro8211Ser)	NC_000006.11:g.152469312G>A	VUS	1 lab	4dce9ca0fa
16:1798690 MAPK8IP3 C>T	16	1798690	1798690	C	T	MAPK8IP3	c.1182C>T	NM_001040439.2	NP_001035529.1:p.(Ile394=)	NC_000016.9:g.1798690C>T	(Likely) benign	1 lab	4dcf3bad28
19:42838273 MEGF8 G>A	19	42838273	42838273	G	A	MEGF8	c.466G>A	NM_001410.3	NP_001401.2:p.(Gly156Ser)	NC_000019.9:g.42838273G>A	VUS	1 lab	4dcf56f5de
5:94027844 SLF1 A>G	5	94027844	94027844	A	G	SLF1	c.2578A>G	NM_032290.4	NP_115666.2:p.(Ile860Val)	NC_000005.9:g.94027844A>G	VUS	1 lab	4dd63f9321
7:84636183 SEMA3D G>T	7	84636183	84636183	G	T	SEMA3D	c.1843C>A	NM_152754.3	NP_689967.2:p.(Pro615Thr)	NC_000007.13:g.84636183G>T	VUS	1 lab	4de090fb05
1:202710622 KDM5B G>A	1	202710622	202710622	G	A	KDM5B	c.2818C>T	NM_006618.5	NP_006609.3:p.(Arg940Cys)	NC_000001.10:g.202710622G>A	VUS	1 lab	4de2587532
11:45935380 PEX16 G>A	11	45935380	45935380	G	A	PEX16	c.877C>T	NM_004813.4	NP_004804.2:p.(Arg293Cys)	NC_000011.9:g.45935380G>A	VUS	1 lab	4de78cbe5a
14:103357758 TRAF3 G>A	14	103357758	103357758	G	A	TRAF3	c.819+4G>A	NM_003300.4	NP_003291.2:p.?	NC_000014.8:g.103357758G>A	(Likely) benign	1 lab	4def9100f8
4:103516099 NFKB1 C>T	4	103516099	103516099	C	T	NFKB1	c.1261C>T	NM_003998.4	NP_003989.2:p.(His421Tyr)	NC_000004.11:g.103516099C>T	VUS	1 lab	4df07ee47e
14:74753278 ABCD4 T>C	14	74753278	74753278	T	C	ABCD4	c.1753-46A>G	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74753278T>C	(Likely) benign	1 lab	4e08623991
X:69176987 EDA G>A	X	69176987	69176987	G	A	EDA	c.502+5G>A	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69176987G>A	(Likely) benign	1 lab	4df5fc8376
7:151257685 PRKAG2 C>T	7	151257685	151257685	C	T	PRKAG2	c.1603G>A	NM_016203.4	NP_057287.2:p.(Val535Ile)	NC_000007.13:g.151257685C>T	VUS	1 lab	4e0317f234
9:131349940 SPTAN1 G>C	9	131349940	131349940	G	C	SPTAN1	c.2834G>C	NM_001130438.3	NP_001123910.1:p.(Ser945Thr)	NC_000009.11:g.131349940G>C	VUS	1 lab	4e05d764f0
1:224606068 WDR26 GGA>G	1	224606068	224606073	GGA	G	WDR26	c.911_912del	NM_025160.7	NP_079436.4:p.(Leu304ProfsTer20)	NC_000001.10:g.224606072_224606073del	(Likely) pathogenic	1 lab	4e0bac3428
14:103404473 CDC42BPB T>A	14	103404473	103404473	T	A	CDC42BPB	c.4972A>T	NM_006035.4	NP_006026.3:p.(Met1658Leu)	NC_000014.8:g.103404473T>A	VUS	1 lab	4e0ca2a9db
17:39727898 KRT9 C>A	17	39727898	39727898	C	A	KRT9	c.347G>T	NM_000226.4	NP_000217.2:p.(Gly116Val)	NC_000017.10:g.39727898C>A	(Likely) benign	1 lab	4e185417b1
2:1893096 MYT1L C>T	2	1893096	1893096	C	T	MYT1L	c.2431G>A	NM_015025.4	NP_055840.2:p.(Glu811Lys)	NC_000002.11:g.1893096C>T	VUS	1 lab	4e1d46a030
12:52910597 KRT5 C>T	12	52910597	52910597	C	T	KRT5	c.1263G>A	NM_000424.4	NP_000415.2:p.(Gly421=)	NC_000012.11:g.52910597C>T	(Likely) benign	1 lab	4e20f89514
1:236925884 ACTN2 T>C	1	236925884	236925884	T	C	ACTN2	c.2650T>C	NM_001103.4	NP_001094.1:p.(Phe884Leu)	NC_000001.10:g.236925884T>C	VUS	1 lab	4e22fd326c
22:29099513 CHEK2 ATCT>A	22	29099513	29099519	ATCT	A	CHEK2	c.885_887del	NM_007194.4	NP_009125.1:p.(Glu295del)	NC_000022.10:g.29099517_29099519del	VUS	1 lab	4e2540f39a
10:112540665 RBM20 C>T	10	112540665	112540665	C	T	RBM20	c.298C>T	NM_001134363.3	NP_001127835.2:p.(Leu100Phe)	NC_000010.10:g.112540665C>T	VUS	1 lab	4e26897e2d
5:180047739 FLT4 C>CGTGT	5	180047739	180047757	C	CGTGT	FLT4	c.2300-28_2300-25dup	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180047754_180047757dup	(Likely) benign	1 lab	4e296ef4ed
18:25562918 CDH2 T>C	18	25562918	25562918	T	C	CDH2	c.2339A>G	NM_001792.5	NP_001783.2:p.(Glu780Gly)	NC_000018.9:g.25562918T>C	VUS	1 lab	4e2c4a6b15
11:62285634 AHNAK C>T	11	62285634	62285634	C	T	AHNAK	c.16255G>A	NM_001620.3	NP_001611.1:p.(Asp5419Asn)	NC_000011.9:g.62285634C>T	VUS	1 lab	4e2c918ba5
10:88441214 LDB3 G>A	10	88441214	88441214	G	A	LDB3	c.343G>A	NM_001171610.2	NP_001165081.1:p.(Gly115Ser)	NC_000010.10:g.88441214G>A	VUS	1 lab	4e311353ed
11:1464737 BRSK2 G>C	11	1464737	1464737	G	C	BRSK2	c.652G>C	NM_001256627.2	NP_001243556.1:p.(Asp218His)	NC_000011.9:g.1464737G>C	VUS	1 lab	4e3ddaeec5
12:111351970 MYL2 A>G	12	111351970	111351970	A	G	MYL2	c.274+20T>C	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351970A>G	(Likely) benign	1 lab	4e3e6152ab
9:139391869 NOTCH1 C>T	9	139391869	139391869	C	T	NOTCH1	c.6322G>A	NM_017617.5	NP_060087.3:p.(Asp2108Asn)	NC_000009.11:g.139391869C>T	VUS	1 lab	4e3e6716ba
9:109690286 ZNF462 G>A	9	109690286	109690286	G	A	ZNF462	c.4093G>A	NM_021224.6	NP_067047.4:p.(Glu1365Lys)	NC_000009.11:g.109690286G>A	VUS	1 lab	4e3f152153
2:84881833 DNAH6 T>A	2	84881833	84881833	T	A	DNAH6	c.5684T>A	NM_001370.2	NP_001361.1:p.(Met1895Lys)	NC_000002.11:g.84881833T>A	VUS	1 lab	4e409d1768
2:55871865 PNPT1 A>C	2	55871865	55871865	A	C	PNPT1	c.1823-10T>G	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55871865A>C	(Likely) benign	1 lab	4e489d06fa
7:103368623 RELN G>C	7	103368623	103368623	G	C	RELN	c.688C>G	NM_005045.4	NP_005036.2:p.(Gln230Glu)	NC_000007.13:g.103368623G>C	VUS	1 lab	4e48acb77d
5:34936273 DNAJC21 GT>G	5	34936273	34936278	GT	G	DNAJC21	c.345del	NM_194283.4	NP_919259.3:p.(Phe115LeufsTer3)	NC_000005.9:g.34936278del	(Likely) pathogenic	1 lab	4e4a092e17
7:65439513 GUSB G>A	7	65439513	65439513	G	A	GUSB	c.1244C>T	NM_000181.4	NP_000172.2:p.(Pro415Leu)	NC_000007.13:g.65439513G>A	(Likely) pathogenic	1 lab	4e4bfe7d91
7:114298326 FOXP2 G>C	7	114298326	114298326	G	C	FOXP2	c.1468+4G>C	NM_014491.4	NP_055306.1:p.?	NC_000007.13:g.114298326G>C	(Likely) benign	1 lab	4e4e59d8ba
1:110169442 AMPD2 GC>G	1	110169442	110169446	GC	G	AMPD2	c.630del	NM_001368809.2	NP_001355738.1:p.(Thr211ProfsTer98)	NC_000001.10:g.110169446del	(Likely) pathogenic	1 lab	4e50fe830c
2:122288545 CLASP1 C>CT	2	122288545	122288546	C	CT	CLASP1	c.196-645dup	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288546dup	VUS	1 lab	4e5195bdac
16:89351530 ANKRD11 C>T	16	89351530	89351530	C	T	ANKRD11	c.1420G>A	NM_013275.6	NP_037407.4:p.(Asp474Asn)	NC_000016.9:g.89351530C>T	VUS	1 lab	4e51a8a0c1
16:162726 NPRL3 G>A	16	162726	162726	G	A	NPRL3	c.442C>T	NM_001077350.3	NP_001070818.1:p.(Arg148Cys)	NC_000016.9:g.162726G>A	(Likely) benign	1 lab	4e53d3cfe9
6:7581635 DSP C>T	6	7581635	7581635	C	T	DSP	c.5212C>T	NM_004415.4	NP_004406.2:p.(Arg1738Ter)	NC_000006.11:g.7581635C>T	(Likely) pathogenic	1 lab	4e5569e5ef
22:19907074 TXNRD2 G>C	22	19907074	19907074	G	C	TXNRD2	c.221C>G	NM_006440.5	NP_006431.2:p.(Ser74Cys)	NC_000022.10:g.19907074G>C	VUS	1 lab	4e560cd992
3:58063012 FLNB T>C	3	58063012	58063012	T	C	FLNB	c.532T>C	NM_001457.4	NP_001448.2:p.(Cys178Arg)	NC_000003.11:g.58063012T>C	(Likely) pathogenic	1 lab	4e5959b020
1:154794654 KCNN3 T>C	1	154794654	154794654	T	C	KCNN3	c.1A>G	NM_001365837.1	NP_001352766.1:p.(Met1?)	NC_000001.10:g.154794654T>C	VUS	1 lab	4e5e8baa3b
14:102431055 DYNC1H1 C>T	14	102431055	102431055	C	T	DYNC1H1	c.27C>T	NM_001376.5	NP_001367.2:p.(Gly9=)	NC_000014.8:g.102431055C>T	VUS	1 lab	4e64277fdc
7:6038788 PMS2 C>A	7	6038788	6038788	C	A	PMS2	c.656G>T	NM_000535.7	NP_000526.2:p.(Gly219Val)	NC_000007.13:g.6038788C>A	VUS	1 lab	4e64b30f94
19:18981433 GDF1 G>A	19	18981433	18981433	G	A	GDF1	c.-312-5C>T	NM_001492.6	NP_001483.3:p.?	NC_000019.9:g.18981433G>A	(Likely) benign	1 lab	4e67028a7e
10:112724445 SHOC2 G>A	10	112724445	112724445	G	A	SHOC2	c.329G>A	NM_007373.4	NP_031399.2:p.(Arg110Lys)	NC_000010.10:g.112724445G>A	VUS	1 lab	4e677a8b87
20:31388636 DNMT3B T>C	20	31388636	31388636	T	C	DNMT3B	c.1906-5T>C	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31388636T>C	(Likely) benign	1 lab	4e688e8e7b
4:83294786 HNRNPD TTGCCGC>T	4	83294786	83294798	TTGCCGC	T	HNRNPD	c.40_45del	NM_031369.3	NP_112737.1:p.(Ala14_Ala15del)	NC_000004.11:g.83294793_83294798del	VUS	1 lab	4e68f430d5
1:78408143 NEXN CAGAAA>C	1	78408143	78408151	CAGAAA	C	NEXN	c.1661_1665del	NM_144573.4	NP_653174.3:p.(Lys554ArgfsTer9)	NC_000001.10:g.78408147_78408151del	VUS	1 lab	4e6a597a1b
11:68192676 LRP5 G>A	11	68192676	68192676	G	A	LRP5	c.3343G>A	NM_002335.4	NP_002326.2:p.(Val1115Met)	NC_000011.9:g.68192676G>A	VUS	1 lab	4e725409ab
6:118887072 CEP85L C>G	6	118887072	118887072	C	G	CEP85L	c.640G>C	NM_001042475.3	NP_001035940.1:p.(Glu214Gln)	NC_000006.11:g.118887072C>G	VUS	1 lab	4e75c273ad
9:35067907 VCP G>A	9	35067907	35067907	G	A	VCP	c.283C>T	NM_007126.5	NP_009057.1:p.(Arg95Cys)	NC_000009.11:g.35067907G>A	(Likely) pathogenic	1 lab	4e78705547
16:23641488 PALB2 G>A	16	23641488	23641488	G	A	PALB2	c.1987C>T	NM_024675.4	NP_078951.2:p.(Arg663Cys)	NC_000016.9:g.23641488G>A	VUS	1 lab	4e7ed24387
14:23282273 SLC7A7 C>T	14	23282273	23282273	C	T	SLC7A7	c.335G>A	NM_001126106.4	NP_001119578.1:p.(Gly112Glu)	NC_000014.8:g.23282273C>T	VUS	1 lab	4e81ad8ffe
17:58740392 PPM1D A>T	17	58740392	58740392	A	T	PPM1D	c.1297A>T	NM_003620.4	NP_003611.1:p.(Lys433Ter)	NC_000017.10:g.58740392A>T	(Likely) pathogenic	1 lab	4e8bf3e36c
20:47580347 ARFGEF2 A>G	20	47580347	47580347	A	G	ARFGEF2	c.839-20A>G	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47580347A>G	(Likely) benign	1 lab	4e8d315703
2:166892886 SCN1A A>G	2	166892886	166892886	A	G	SCN1A	c.3101T>C	NM_001202435.3	NP_001189364.1:p.(Ile1034Thr)	NC_000002.11:g.166892886A>G	(Likely) benign	1 lab	4e90bf3246
12:53702960 AAAS T>G	12	53702960	53702960	T	G	AAAS	c.916A>C	NM_015665.6	NP_056480.1:p.(Thr306Pro)	NC_000012.11:g.53702960T>G	VUS	1 lab	4e911601ec
16:88802579 PIEZO1 G>T	16	88802579	88802579	G	T	PIEZO1	c.1534C>A	NM_001142864.4	NP_001136336.2:p.(Pro512Thr)	NC_000016.9:g.88802579G>T	VUS	1 lab	4e9149ce94
12:113321179 RPH3A G>C	12	113321179	113321179	G	C	RPH3A	c.1408G>C	NM_001143854.2	NP_001137326.1:p.(Asp470His)	NC_000012.11:g.113321179G>C	VUS	1 lab	4e9845068e
10:33475384 NRP1 C>T	10	33475384	33475384	C	T	NRP1	c.2095G>A	NM_003873.7	NP_003864.5:p.(Glu699Lys)	NC_000010.10:g.33475384C>T	VUS	1 lab	4e9950d153
4:110914427 EGF A>T	4	110914427	110914427	A	T	EGF	c.2759A>T	NM_001963.6	NP_001954.2:p.(Glu920Val)	NC_000004.11:g.110914427A>T	(Likely) benign	1 lab	4e9e869a23
18:32428344 DTNA G>A	18	32428344	32428344	G	A	DTNA	c.1170G>A	NM_001198939.2	NP_001185868.1:p.(Ser390=)	NC_000018.9:g.32428344G>A	(Likely) benign	1 lab	4e9e881b40
17:17135180 FLCN G>C	17	17135180	17135180	G	C	FLCN	c.-97C>G	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17135180G>C	VUS	1 lab	4ea58745a2
7:117188736 CFTR C>A	7	117188736	117188736	C	A	CFTR	c.1251C>A	NM_000492.4	NP_000483.3:p.(Asn417Lys)	NC_000007.13:g.117188736C>A	(Likely) benign	1 lab	4eaa2f7b2d
4:94032125 GRID2 G>C	4	94032125	94032125	G	C	GRID2	c.735+21G>C	NM_001510.4	NP_001501.2:p.?	NC_000004.11:g.94032125G>C	(Likely) benign	1 lab	4eefc16637
6:86324743 SYNCRIP C>T	6	86324743	86324743	C	T	SYNCRIP	c.1309G>A	NM_001159673.2	NP_001153145.1:p.(Val437Ile)	NC_000006.11:g.86324743C>T	VUS	1 lab	4eafc7e654
2:179547937 TTN C>G	2	179547937	179547937	C	G	TTN	c.32887+1G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179547937C>G	VUS	1 lab	4eb06cf6cc
16:335594 PDIA2 G>A	16	335594	335594	G	A	PDIA2	c.1010G>A	NM_006849.4	NP_006840.2:p.(Arg337His)	NC_000016.9:g.335594G>A	VUS	1 lab	4eb0cab058
8:145001038 PLEC G>A	8	145001038	145001038	G	A	PLEC	c.4039C>T	NM_000445.5	NP_000436.2:p.(Arg1347Cys)	NC_000008.10:g.145001038G>A	(Likely) benign	1 lab	4eb21152a9
1:46656145 POMGNT1 C>T	1	46656145	46656145	C	T	POMGNT1	c.1649G>A	NM_001243766.2	NP_001230695.2:p.(Ser550Asn)	NC_000001.10:g.46656145C>T	(Likely) pathogenic	1 lab	4eb33791be
2:179418395 TTN CT>C	2	179418395	179418396	CT	C	TTN	c.89336del	NM_001267550.2	NP_001254479.2:p.(Glu29779GlyfsTer22)	NC_000002.11:g.179418396del	(Likely) pathogenic	1 lab	4eb8472d6d
1:155204796 GBA1 C>T	1	155204796	155204796	C	T	GBA1	c.1601G>A	NM_001005741.3	NP_001005741.1:p.(Arg534His)	NC_000001.10:g.155204796C>T	VUS	1 lab	4ebb5c0e44
5:149915371 NDST1 G>A	5	149915371	149915371	G	A	NDST1	c.1361G>A	NM_001543.5	NP_001534.1:p.(Arg454His)	NC_000005.9:g.149915371G>A	VUS	1 lab	4ebd0bd12d
17:18043766 MYO15A C>G	17	18043766	18043766	C	G	MYO15A	c.5212-65C>G	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18043766C>G	(Likely) benign	1 lab	4ebd7a1cc3
18:67753917 RTTN C>A	18	67753917	67753917	C	A	RTTN	c.4306G>T	NM_173630.4	NP_775901.3:p.(Ala1436Ser)	NC_000018.9:g.67753917C>A	VUS	1 lab	4ec2c21ebd
10:81371391 SFTPA1 G>A	10	81371391	81371391	G	A	SFTPA1	c.-23-168G>A	NM_005411.5	NP_005402.3:p.?	NC_000010.10:g.81371391G>A	VUS	1 lab	4ec3619401
18:50278537 DCC G>A	18	50278537	50278537	G	A	DCC	c.205G>A	NM_005215.4	NP_005206.2:p.(Val69Ile)	NC_000018.9:g.50278537G>A	VUS	1 lab	4ec3bae7c6
X:17705850 NHS C>CT	X	17705850	17705852	C	CT	NHS	c.566-10dup	NM_198270.4	NP_938011.1:p.?	NC_000023.10:g.17705852dup	(Likely) benign	1 lab	4ec5272d36
3:48627066 COL7A1 G>A	3	48627066	48627066	G	A	COL7A1	c.2136C>T	NM_000094.4	NP_000085.1:p.(Ala712=)	NC_000003.11:g.48627066G>A	(Likely) benign	1 lab	4ecc4886c7
22:41531889 EP300 A>T	22	41531889	41531889	A	T	EP300	c.1601A>T	NM_001429.4	NP_001420.2:p.(His534Leu)	NC_000022.10:g.41531889A>T	VUS	1 lab	4ecef14b92
10:6061425 IL2RA C>T	10	6061425	6061425	C	T	IL2RA	c.693G>A	NM_000417.3	NP_000408.1:p.(Glu231=)	NC_000010.10:g.6061425C>T	(Likely) benign	1 lab	4ed123a5d6
8:104709490 RIMS2 G>A	8	104709490	104709490	G	A	RIMS2	c.353G>A	NM_001100117.3	NP_001093587.1:p.(Arg118His)	NC_000008.10:g.104709490G>A	VUS	1 lab	4ed2206bfd
8:144998941 PLEC C>T	8	144998941	144998941	C	T	PLEC	c.5237G>A	NM_000445.5	NP_000436.2:p.(Arg1746Gln)	NC_000008.10:g.144998941C>T	VUS	1 lab	4edeb863b2
5:55237041 IL6ST C>T	5	55237041	55237041	C	T	IL6ST	c.2626G>A	NM_002184.4	NP_002175.2:p.(Ala876Thr)	NC_000005.9:g.55237041C>T	VUS	1 lab	4ee3e485cd
3:126724041 PLXNA1 C>T	3	126724041	126724041	C	T	PLXNA1	c.1852C>T	NM_032242.4	NP_115618.3:p.(Arg618Cys)	NC_000003.11:g.126724041C>T	VUS	1 lab	4ee509eefb
3:37038110 MLH1 T>A	3	37038110	37038110	T	A	MLH1	c.117T>A	NM_000249.4	NP_000240.1:p.(Cys39Ter)	NC_000003.11:g.37038110T>A	(Likely) pathogenic	1 lab	4ee68d7474
9:131344983 SPTAN1 G>A	9	131344983	131344983	G	A	SPTAN1	c.1661G>A	NM_001130438.3	NP_001123910.1:p.(Arg554His)	NC_000009.11:g.131344983G>A	(Likely) benign	1 lab	4ee8460ace
12:103237504 PAH G>A	12	103237504	103237504	G	A	PAH	c.1119C>T	NM_000277.3	NP_000268.1:p.(Ala373=)	NC_000012.11:g.103237504G>A	(Likely) benign	1 lab	4eef172f86
22:50301476 ALG12 T>C	22	50301476	50301476	T	C	ALG12	c.885A>G	NM_024105.4	NP_077010.1:p.(Ala295=)	NC_000022.10:g.50301476T>C	(Likely) benign	1 lab	4ef159b88d
1:53370727 ECHDC2 G>GC	1	53370727	53370728	G	GC	ECHDC2	c.261dup	NM_001319958.2	NP_001306887.1:p.(Arg88AlafsTer36)	NC_000001.10:g.53370728dup	VUS	1 lab	4ef3380f37
X:14627272 GLRA2 C>A	X	14627272	14627272	C	A	GLRA2	c.875C>A	NM_002063.4	NP_002054.1:p.(Thr292Asn)	NC_000023.10:g.14627272C>A	(Likely) pathogenic	1 lab	4efe894369
19:4544262 SEMA6B GCGCCAC>G	19	4544262	4544278	GCGCCAC	G	SEMA6B	c.2012_2017del	NM_032108.4	NP_115484.2:p.(Gly671_Gly672del)	NC_000019.9:g.4544273_4544278del	VUS	1 lab	4f058d7616
7:107052927 COG5 AAC>A	7	107052927	107052930	AAC	A	COG5	c.669+18_669+19del	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.107052929_107052930del	(Likely) benign	1 lab	4f0897f39d
17:7678191 DNAH2 A>G	17	7678191	7678191	A	G	DNAH2	c.4616A>G	NM_020877.5	NP_065928.2:p.(Asn1539Ser)	NC_000017.10:g.7678191A>G	VUS	1 lab	4f0b52ecc8
3:38519742 ACVR2B C>T	3	38519742	38519742	C	T	ACVR2B	c.481C>T	NM_001106.4	NP_001097.2:p.(Arg161Trp)	NC_000003.11:g.38519742C>T	VUS	1 lab	4f0b8c3518
17:27835004 TAOK1 C>T	17	27835004	27835004	C	T	TAOK1	c.1429C>T	NM_020791.4	NP_065842.1:p.(Gln477Ter)	NC_000017.10:g.27835004C>T	(Likely) pathogenic	1 lab	4f0e1231de
11:75694549 UVRAG A>C	11	75694549	75694549	A	C	UVRAG	c.818A>C	NM_003369.4	NP_003360.2:p.(Gln273Pro)	NC_000011.9:g.75694549A>C	(Likely) benign	1 lab	4f0e549710
7:56149620 PHKG1 T>A	7	56149620	56149620	T	A	PHKG1	c.854A>T	NM_001258459.2	NP_001245388.1:p.(Glu285Val)	NC_000007.13:g.56149620T>A	VUS	1 lab	4f100a3c5e
12:56571861 SMARCC2 G>A	12	56571861	56571861	G	A	SMARCC2	c.1327C>T	NM_001330288.2	NP_001317217.1:p.(Arg443Trp)	NC_000012.11:g.56571861G>A	VUS	1 lab	4f1138124e
22:29107949 CHEK2 G>T	22	29107949	29107949	G	T	CHEK2	c.740C>A	NM_007194.4	NP_009125.1:p.(Ala247Asp)	NC_000022.10:g.29107949G>T	VUS	1 lab	4f1ae1d3ac
9:140846715 CACNA1B C>G	9	140846715	140846715	C	G	CACNA1B	c.967-11C>G	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140846715C>G	(Likely) benign	1 lab	4f1e3e1338
19:18273935 PIK3R2 A>G	19	18273935	18273935	A	G	PIK3R2	c.1268A>G	NM_005027.4	NP_005018.2:p.(Tyr423Cys)	NC_000019.9:g.18273935A>G	VUS	1 lab	4f23257bf7
2:230679004 TRIP12 G>A	2	230679004	230679004	G	A	TRIP12	c.1625C>T	NM_004238.3	NP_004229.1:p.(Ala542Val)	NC_000002.11:g.230679004G>A	VUS	1 lab	4f2337f410
5:147480955 SPINK5 A>G	5	147480955	147480955	A	G	SPINK5	c.1258A>G	NM_001127698.2	NP_001121170.1:p.(Lys420Glu)	NC_000005.9:g.147480955A>G	(Likely) benign	1 lab	4f246af253
7:150711113 NOS3 C>T	7	150711113	150711113	C	T	NOS3	c.3468C>T	NM_000603.5	NP_000594.2:p.(His1156=)	NC_000007.13:g.150711113C>T	(Likely) benign	1 lab	4f261d5b4c
8:11607629 GATA4 C>T	8	11607629	11607629	C	T	GATA4	c.793C>T	NM_002052.5	NP_002043.2:p.(Arg265Cys)	NC_000008.10:g.11607629C>T	VUS	1 lab	4f27b6853a
X:47044463 RBM10 G>C	X	47044463	47044463	G	C	RBM10	c.1960G>C	NM_005676.5	NP_005667.2:p.(Asp654His)	NC_000023.10:g.47044463G>C	VUS	1 lab	4f27d4276a
22:18566288 PEX26 C>G	22	18566288	18566288	C	G	PEX26	c.457C>G	NM_001127649.3	NP_001121121.1:p.(Leu153Val)	NC_000022.10:g.18566288C>G	(Likely) benign	1 lab	4f286fabee
3:138121032 MRAS G>A	3	138121032	138121032	G	A	MRAS	c.548G>A	NM_012219.4	NP_036351.3:p.(Ser183Asn)	NC_000003.11:g.138121032G>A	VUS	1 lab	4f2951dd38
6:152629772 SYNE1 G>T	6	152629772	152629772	G	T	SYNE1	c.17203-5C>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152629772G>T	(Likely) benign	1 lab	4f2c6169de
17:39743081 KRT14 G>A	17	39743081	39743081	G	A	KRT14	c.6C>T	NM_000526.5	NP_000517.3:p.(Thr2=)	NC_000017.10:g.39743081G>A	(Likely) benign	1 lab	4f2ddd7b5e
6:29910557 HLA-A T>A	6	29910557	29910557	T	A	HLA-A	c.97T>A	NM_002116.8	NP_002107.3:p.(Phe33Ile)	NC_000006.11:g.29910557T>A	(Likely) benign	1 lab	4f32324059
8:145540917 DGAT1 T>TG	8	145540917	145540922	T	TG	DGAT1	c.1095-3dup	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145540922dup	(Likely) benign	1 lab	4f32919e55
3:47163557 SETD2 C>T	3	47163557	47163557	C	T	SETD2	c.2569G>A	NM_014159.7	NP_054878.5:p.(Gly857Ser)	NC_000003.11:g.47163557C>T	VUS	1 lab	4f32ff3a27
6:160103652 SOD2 C>A	6	160103652	160103652	C	A	SOD2	c.542G>T	NM_000636.4	NP_000627.2:p.(Gly181Val)	NC_000006.11:g.160103652C>A	(Likely) pathogenic	1 lab	4f36c93355
10:46963982 SYT15 CTT>C	10	46963982	46963984	CTT	C	SYT15	c.979_980del	NM_031912.5	NP_114118.2:p.(Lys327ValfsTer20)	NC_000010.10:g.46963983_46963984del	VUS	1 lab	4f3df3e6e7
5:130982768 FNIP1 A>G	5	130982768	130982768	A	G	FNIP1	c.3422+15T>C	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.130982768A>G	(Likely) benign	1 lab	4f3e8ec8ec
2:230633439 TRIP12 T>C	2	230633439	230633439	T	C	TRIP12	c.5679-4A>G	NM_004238.3	NP_004229.1:p.?	NC_000002.11:g.230633439T>C	(Likely) benign	1 lab	4f404d9792
1:98157304 DPYD T>G	1	98157304	98157304	T	G	DPYD	c.731A>C	NM_000110.4	NP_000101.2:p.(Glu244Ala)	NC_000001.10:g.98157304T>G	VUS	1 lab	4f4157c64c
2:84848659 DNAH6 A>C	2	84848659	84848659	A	C	DNAH6	c.4055A>C	NM_001370.2	NP_001361.1:p.(Glu1352Ala)	NC_000002.11:g.84848659A>C	VUS	1 lab	4f4a2f1a21
17:41243769 BRCA1 A>C	17	41243769	41243769	A	C	BRCA1	c.3779T>G	NM_007294.4	NP_009225.1:p.(Leu1260Ter)	NC_000017.10:g.41243769A>C	(Likely) pathogenic	1 lab	4f4bc2eb4b
X:123519883 TENM1 C>T	X	123519883	123519883	C	T	TENM1	c.5720G>A	NM_001163278.1	NP_001156750.1:p.(Arg1907His)	NC_000023.10:g.123519883C>T	VUS	1 lab	4f4ce7f12a
20:42815105 JPH2 G>C	20	42815105	42815105	G	C	JPH2	c.241C>G	NM_020433.5	NP_065166.2:p.(Leu81Val)	NC_000020.10:g.42815105G>C	VUS	1 lab	4f4d5c1ab1
12:56575535 SMARCC2 G>A	12	56575535	56575535	G	A	SMARCC2	c.793C>T	NM_003075.5	NP_003066.2:p.(Pro265Ser)	NC_000012.11:g.56575535G>A	VUS	1 lab	4f4f41ab05
18:47500978 MYO5B T>A	18	47500978	47500978	T	A	MYO5B	c.1064A>T	NM_001080467.3	NP_001073936.1:p.(Asp355Val)	NC_000018.9:g.47500978T>A	(Likely) pathogenic	1 lab	4f50b57bf9
6:105244526 HACE1 A>T	6	105244526	105244526	A	T	HACE1	c.816+4T>A	NM_020771.4	NP_065822.2:p.?	NC_000006.11:g.105244526A>T	(Likely) benign	1 lab	4f5574ed30
19:603886 HCN2 C>T	19	603886	603886	C	T	HCN2	c.975C>T	NM_001194.4	NP_001185.3:p.(Ile325=)	NC_000019.9:g.603886C>T	(Likely) benign	1 lab	4f56b23bd9
6:157507698 ARID1B G>C	6	157507698	157507698	G	C	ARID1B	c.3799+2129G>C	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157507698G>C	(Likely) benign	1 lab	4f594c110a
2:179528366 TTN G>T	2	179528366	179528366	G	T	TTN	c.36520C>A	NM_001267550.2	NP_001254479.2:p.(Pro12174Thr)	NC_000002.11:g.179528366G>T	VUS	1 lab	4f59d0c088
16:2153808 PKD1 GGAC>G	16	2153808	2153812	GGAC	G	PKD1	c.8247_8249del	NM_001009944.3	NP_001009944.3:p.(Ser2750del)	NC_000016.9:g.2153810_2153812del	VUS	1 lab	4f5e1eb4ec
22:24159112 SMARCB1 G>A	22	24159112	24159112	G	A	SMARCB1	c.784G>A	NM_003073.5	NP_003064.2:p.(Val262Ile)	NC_000022.10:g.24159112G>A	VUS	1 lab	4f5f94d9e8
17:61559084 ACE A>G	17	61559084	61559084	A	G	ACE	c.1103A>G	NM_000789.4	NP_000780.1:p.(Asn368Ser)	NC_000017.10:g.61559084A>G	VUS	1 lab	4f62378eef
11:59633893 TCN1 AAAAG>A	11	59633893	59633900	AAAAG	A	TCN1	c.47_50del	NM_001062.4	NP_001053.2:p.(Ser16LeufsTer12)	NC_000011.9:g.59633897_59633900del	(Likely) pathogenic	1 lab	4f63a2a077
11:108216501 ATM A>G	11	108216501	108216501	A	G	ATM	c.8450A>G	NM_000051.4	NP_000042.3:p.(Tyr2817Cys)	NC_000011.9:g.108216501A>G	VUS	1 lab	4f641be1b1
15:80473415 FAH TGTC>T	15	80473415	80473420	TGTC	T	FAH	c.1097_1099del	NM_000137.4	NP_000128.1:p.(Ser366del)	NC_000015.9:g.80473418_80473420del	(Likely) pathogenic	1 lab	4f65219e0c
17:7662422 DNAH2 T>G	17	7662422	7662422	T	G	DNAH2	c.2428T>G	NM_020877.5	NP_065928.2:p.(Phe810Val)	NC_000017.10:g.7662422T>G	VUS	1 lab	4f692eb75e
6:85446530 TBX18 C>T	6	85446530	85446530	C	T	TBX18	c.1697G>A	NM_001080508.3	NP_001073977.1:p.(Arg566Gln)	NC_000006.11:g.85446530C>T	VUS	1 lab	4f6b30cb68
17:41244819 BRCA1 TG>T	17	41244819	41244820	TG	T	BRCA1	c.2728del	NM_007294.4	NP_009225.1:p.(Gln910LysfsTer90)	NC_000017.10:g.41244820del	(Likely) pathogenic	1 lab	4f6ebe3051
12:7045937 ATN1 C>CAGA	12	7045937	7045939	C	CAGA	ATN1	c.1508_1509insGAA	NM_001007026.2	NP_001007027.1:p.(His503delinsGlnAsn)	NC_000012.11:g.7045938_7045939insGAA	VUS	1 lab	4f7052e993
1:156106908 LMNA G>A	1	156106908	156106908	G	A	LMNA	c.1493G>A	NM_170707.4	NP_733821.1:p.(Trp498Ter)	NC_000001.10:g.156106908G>A	(Likely) pathogenic	1 lab	4f70bfcf73
14:105417452 AHNAK2 C>G	14	105417452	105417452	C	G	AHNAK2	c.4336G>C	NM_138420.4	NP_612429.2:p.(Glu1446Gln)	NC_000014.8:g.105417452C>G	VUS	1 lab	4f70c605a4
2:242690745 D2HGDH C>T	2	242690745	242690745	C	T	D2HGDH	c.1082C>T	NM_152783.5	NP_689996.4:p.(Ala361Val)	NC_000002.11:g.242690745C>T	(Likely) benign	1 lab	4f72549495
4:15981926 PROM1 TA>T	4	15981926	15981943	TA	T	PROM1	c.2462+118del	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15981943del	(Likely) benign	1 lab	4f75ab32f4
2:179466758 TTN A>T	2	179466758	179466758	A	T	TTN	c.55240T>A	NM_001267550.2	NP_001254479.2:p.(Phe18414Ile)	NC_000002.11:g.179466758A>T	VUS	1 lab	4f778d10ca
13:32893392 BRCA2 A>AT	13	32893392	32893393	A	AT	BRCA2	c.246_247insT	NM_000059.4	NP_000050.3:p.(Glu83Ter)	NC_000013.10:g.32893392_32893393insT	(Likely) pathogenic	1 lab	4f7a3ac1be
17:78348494 RNF213 A>G	17	78348494	78348494	A	G	RNF213	c.13074+105A>G	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78348494A>G	(Likely) benign	1 lab	4f7f8a6ee7
16:1779575 MAPK8IP3 CGGAGGTACGCGGGGCGCGGCGGGGT>C	16	1779575	1779624	CGGAGGTACGCGGGGCGCGGCGGGGT	C	MAPK8IP3	c.602+21_602+45del	NM_001040439.2	NP_001035529.1:p.?	NC_000016.9:g.1779600_1779624del	(Likely) benign	1 lab	4f86c89e86
3:124351363 KALRN C>T	3	124351363	124351363	C	T	KALRN	c.182C>T	NM_007064.5	NP_008995.2:p.(Pro61Leu)	NC_000003.11:g.124351363C>T	VUS	1 lab	4f87179a11
7:73933755 GTF2IRD1 G>A	7	73933755	73933755	G	A	GTF2IRD1	c.622G>A	NM_016328.3	NP_057412.1:p.(Gly208Arg)	NC_000007.13:g.73933755G>A	VUS	1 lab	4f8a37ad43
12:57572366 LRP1 A>C	12	57572366	57572366	A	C	LRP1	c.4586A>C	NM_002332.3	NP_002323.2:p.(His1529Pro)	NC_000012.11:g.57572366A>C	(Likely) benign	1 lab	4f8c200620
3:145803138 PLOD2 T>C	3	145803138	145803138	T	C	PLOD2	c.1128-78A>G	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145803138T>C	(Likely) benign	1 lab	4f93819211
21:34922925 SON T>TGGAGCCACCACAGGAGGTACC	21	34922925	34922946	T	TGGAGCCACCACAGGAGGTACC	SON	c.1389_1409dup	NM_032195.3	NP_115571.3:p.(Gln467_Pro473dup)	NC_000021.8:g.34922926_34922946dup	VUS	1 lab	4f9a5409ee
16:68853256 CDH1 GA>G	16	68853256	68853257	GA	G	CDH1	c.1640del	NM_004360.5	NP_004351.1:p.(Glu547GlyfsTer10)	NC_000016.9:g.68853257del	(Likely) pathogenic	1 lab	4f9dae17d9
2:190430214 SLC40A1 G>A	2	190430214	190430214	G	A	SLC40A1	c.626C>T	NM_014585.6	NP_055400.1:p.(Ser209Leu)	NC_000002.11:g.190430214G>A	VUS	1 lab	4fa2a1bf57
X:122318386 GRIA3 A>AG	X	122318386	122318387	A	AG	GRIA3	c.-3_-1=	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122318386_122318387insG	(Likely) benign	1 lab	4fa610b412
16:3708137 DNASE1 C>T	16	3708137	3708137	C	T	DNASE1	c.*21+269C>T	NM_001387140.1	NP_001374069.1:p.?	NC_000016.9:g.3708137C>T	(Likely) benign	1 lab	4fa76db461
4:39472842 LIAS T>A	4	39472842	39472842	T	A	LIAS	c.884-14T>A	NM_006859.4	NP_006850.2:p.?	NC_000004.11:g.39472842T>A	(Likely) benign	1 lab	4face207c4
1:27023144 ARID1A G>GGCGGCGGCGGAGCCGGCA	1	27023144	27023172	G	GGCGGCGGCGGAGCCGGCA	ARID1A	c.261_278dup	NM_006015.6	NP_006006.3:p.(Ala88_Gly93dup)	NC_000001.10:g.27023155_27023172dup	VUS	1 lab	4fafc2e906
10:94410177 KIF11 C>T	10	94410177	94410177	C	T	KIF11	c.2942C>T	NM_004523.4	NP_004514.2:p.(Ala981Val)	NC_000010.10:g.94410177C>T	VUS	1 lab	4fb0372797
1:220284138 IARS2 G>A	1	220284138	220284138	G	A	IARS2	c.1338G>A	NM_018060.4	NP_060530.3:p.(Met446Ile)	NC_000001.10:g.220284138G>A	VUS	1 lab	4fb1c438c6
5:156810322 CYFIP2 C>T	5	156810322	156810322	C	T	CYFIP2	c.3162C>T	NM_001037333.3	NP_001032410.1:p.(Ala1054=)	NC_000005.9:g.156810322C>T	(Likely) benign	1 lab	4fb6682b0c
6:79657391 PHIP G>A	6	79657391	79657391	G	A	PHIP	c.4155C>T	NM_017934.7	NP_060404.4:p.(Val1385=)	NC_000006.11:g.79657391G>A	(Likely) benign	1 lab	4fb7a0e238
12:52345525 ACVR1B A>G	12	52345525	52345525	A	G	ACVR1B	c.-3A>G	NM_020328.4	NP_064733.3:p.?	NC_000012.11:g.52345525A>G	VUS	1 lab	4fba36519c
19:39074134 RYR1 A>G	19	39074134	39074134	A	G	RYR1	c.14647-1449A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39074134A>G	(Likely) pathogenic	1 lab	4fc53e4958
5:176719052 NSD1 A>G	5	176719052	176719052	A	G	NSD1	c.6356A>G	NM_022455.5	NP_071900.2:p.(Asp2119Gly)	NC_000005.9:g.176719052A>G	(Likely) pathogenic	1 lab	4fc635f4d0
3:38592902 SCN5A AG>A	3	38592902	38592905	AG	A	SCN5A	c.4960del	NM_001099404.2	NP_001092874.1:p.(Leu1654CysfsTer133)	NC_000003.11:g.38592905del	(Likely) pathogenic	1 lab	4fc8a93073
1:116268177 CASQ2 GGAAAAAA>G	1	116268177	116268184	GGAAAAAA	G	CASQ2	c.738-10_738-4del	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268178_116268184del	(Likely) benign	1 lab	4e87a419c1
3:164786629 SI TA>T	3	164786629	164786637	TA	T	SI	c.374-11del	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164786637del	(Likely) benign	1 lab	4fcfbc34bd
10:298296 ZMYND11 CTG>C	10	298296	298300	CTG	C	ZMYND11	c.1698_1699del	NM_006624.7	NP_006615.2:p.(Cys566Ter)	NC_000010.10:g.298299_298300del	(Likely) pathogenic	1 lab	4fd09664a0
9:139391204 NOTCH1 ACT>A	9	139391204	139391207	ACT	A	NOTCH1	c.6985_6986del	NM_017617.5	NP_060087.3:p.(Ser2329CysfsTer24)	NC_000009.11:g.139391206_139391207del	(Likely) pathogenic	1 lab	4fd3c1103b
16:11010268 CIITA C>G	16	11010268	11010268	C	G	CIITA	c.3014C>G	NM_000246.4	NP_000237.2:p.(Ser1005Trp)	NC_000016.9:g.11010268C>G	VUS	1 lab	4fdf8588c3
8:105459678 DPYS CT>C	8	105459678	105459680	CT	C	DPYS	c.476del	NM_001385.3	NP_001376.1:p.(Lys159ArgfsTer12)	NC_000008.10:g.105459680del	(Likely) pathogenic	1 lab	4fe1987bb1
1:155313465 ASH1L G>A	1	155313465	155313465	G	A	ASH1L	c.8050C>T	NM_018489.3	NP_060959.2:p.(Arg2684Ter)	NC_000001.10:g.155313465G>A	(Likely) pathogenic	1 lab	4fe70a6462
12:49239481 DDX23 C>T	12	49239481	49239481	C	T	DDX23	c.85G>A	NM_004818.3	NP_004809.2:p.(Glu29Lys)	NC_000012.11:g.49239481C>T	VUS	1 lab	4fe81155f4
4:6606997 MAN2B2 C>G	4	6606997	6606997	C	G	MAN2B2	c.1755C>G	NM_015274.3	NP_056089.1:p.(Asn585Lys)	NC_000004.11:g.6606997C>G	VUS	1 lab	4fe9a5a0d1
17:39925402 JUP G>A	17	39925402	39925402	G	A	JUP	c.526C>T	NM_001352773.2	NP_001339702.1:p.(Arg176Trp)	NC_000017.10:g.39925402G>A	VUS	1 lab	4fef93ecf5
X:66766518 AR C>G	X	66766518	66766518	C	G	AR	c.1530C>G	NM_000044.6	NP_000035.2:p.(Ser510Arg)	NC_000023.10:g.66766518C>G	VUS	1 lab	4ff25794dc
14:61788875 PRKCH C>T	14	61788875	61788875	C	T	PRKCH	c.56C>T	NM_006255.4	NP_006246.2:p.(Ala19Val)	NC_000014.8:g.61788875C>T	(Likely) benign	1 lab	4ff5985db0
7:84651872 SEMA3D C>T	7	84651872	84651872	C	T	SEMA3D	c.1249G>A	NM_152754.3	NP_689967.2:p.(Val417Ile)	NC_000007.13:g.84651872C>T	VUS	1 lab	4ffc3b327a
20:44048852 PIGT A>G	20	44048852	44048852	A	G	PIGT	c.758A>G	NM_015937.6	NP_057021.2:p.(Gln253Arg)	NC_000020.10:g.44048852A>G	VUS	1 lab	4ffde042d6
17:78081354 GAA A>G	17	78081354	78081354	A	G	GAA	c.693-2A>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081354A>G	(Likely) pathogenic	1 lab	4ffe3d9584
1:228612838 H3-4 G>T	1	228612838	228612838	G	T	H3-4	c.189C>A	NM_003493.3	NP_003484.1:p.(Ile63=)	NC_000001.10:g.228612838G>T	(Likely) benign	1 lab	5000e83c7f
9:140972578 CACNA1B G>A	9	140972578	140972578	G	A	CACNA1B	c.4962G>A	NM_000718.4	NP_000709.1:p.(Gly1654=)	NC_000009.11:g.140972578G>A	(Likely) benign	1 lab	500ac7c931
X:107381212 ATG4A T>A	X	107381212	107381212	T	A	ATG4A	c.726T>A	NM_052936.5	NP_443168.2:p.(Asp242Glu)	NC_000023.10:g.107381212T>A	VUS	1 lab	5013f21009
21:43187167 RIPK4 G>C	21	43187167	43187167	G	C	RIPK4	c.35C>G	NM_020639.3	NP_065690.2:p.(Ala12Gly)	NC_000021.8:g.43187167G>C	(Likely) benign	1 lab	5016c4b347
5:127613595 FBN2 T>A	5	127613595	127613595	T	A	FBN2	c.7448A>T	NM_001999.4	NP_001990.2:p.(Asp2483Val)	NC_000005.9:g.127613595T>A	VUS	1 lab	50185618b6
X:153581232 FLNA T>TC	X	153581232	153581234	T	TC	FLNA	c.6262dup	NM_001456.4	NP_001447.2:p.(Asp2088GlyfsTer63)	NC_000023.10:g.153581234dup	(Likely) pathogenic	1 lab	501bad689e
4:88996000 PKD2 C>T	4	88996000	88996000	C	T	PKD2	c.2559C>T	NM_000297.4	NP_000288.1:p.(Ile853=)	NC_000004.11:g.88996000C>T	(Likely) benign	1 lab	501d8e3557
20:44054349 PIGT T>C	20	44054349	44054349	T	C	PIGT	c.1620T>C	NM_015937.6	NP_057021.2:p.(Tyr540=)	NC_000020.10:g.44054349T>C	(Likely) benign	1 lab	501eee9a0d
1:19205806 ALDH4A1 G>A	1	19205806	19205806	G	A	ALDH4A1	c.928C>T	NM_003748.4	NP_003739.2:p.(Arg310Cys)	NC_000001.10:g.19205806G>A	VUS	1 lab	501fb999e1
7:155604799 SHH T>G	7	155604799	155604799	T	G	SHH	c.18A>C	NM_000193.4	NP_000184.1:p.(Arg6Ser)	NC_000007.13:g.155604799T>G	VUS	1 lab	5021ed6a8e
1:43909447 SZT2 GC>G	1	43909447	43909453	GC	G	SZT2	c.8640del	NM_015284.4	NP_056099.3:p.(Ser2881HisfsTer41)	NC_000001.10:g.43909453del	(Likely) pathogenic	1 lab	5024f33ac4
11:70332231 SHANK2 G>GAATGGC	11	70332231	70332239	G	GAATGGC	SHANK2	c.4161_4166dup	NM_012309.5	NP_036441.2:p.(Leu1387_Pro1388dup)	NC_000011.9:g.70332234_70332239dup	(Likely) benign	1 lab	5028226a7d
16:1889330 MEIOB G>A	16	1889330	1889330	G	A	MEIOB	c.1144C>T	NM_001163560.3	NP_001157032.1:p.(Leu382=)	NC_000016.9:g.1889330G>A	(Likely) benign	1 lab	5032158d5f
12:2659132 CACNA1C G>A	12	2659132	2659132	G	A	CACNA1C	c.1414G>A	NM_000719.7	NP_000710.5:p.(Glu472Lys)	NC_000012.11:g.2659132G>A	VUS	1 lab	50342b1fe9
12:53073940 KRT1 G>A	12	53073940	53073940	G	A	KRT1	c.193C>T	NM_006121.4	NP_006112.3:p.(Arg65Trp)	NC_000012.11:g.53073940G>A	(Likely) benign	1 lab	5038c2c92a
1:231401902 GNPAT G>A	1	231401902	231401902	G	A	GNPAT	c.915G>A	NM_014236.4	NP_055051.1:p.(Glu305=)	NC_000001.10:g.231401902G>A	(Likely) benign	1 lab	503a5a08a9
10:76790065 KAT6B T>C	10	76790065	76790065	T	C	KAT6B	c.5483T>C	NM_012330.4	NP_036462.2:p.(Ile1828Thr)	NC_000010.10:g.76790065T>C	VUS	1 lab	503c5b461b
6:24503590 ALDH5A1 C>T	6	24503590	24503590	C	T	ALDH5A1	c.538C>T	NM_170740.1	NP_733936.1:p.(His180Tyr)	NC_000006.11:g.24503590C>T	(Likely) benign	1 lab	504360e61a
4:186208363 MISSING 186441493>DUP	4	186208363	186441493	186441493	DUP	MISSING				NC_000004.11:g.186208363_186441493dup	(Likely) benign	1 lab	5043a2edbb
7:128478713 FLNC A>T	7	128478713	128478713	A	T	FLNC	c.1267A>T	NM_001458.5	NP_001449.3:p.(Thr423Ser)	NC_000007.13:g.128478713A>T	VUS	1 lab	5043d17897
12:56081876 ITGA7 G>A	12	56081876	56081876	G	A	ITGA7	c.3062C>T	NM_002206.3	NP_002197.2:p.(Pro1021Leu)	NC_000012.11:g.56081876G>A	VUS	1 lab	504542c566
10:101486787 COX15 C>T	10	101486787	101486787	C	T	COX15	c.520G>A	NM_078470.6	NP_510870.1:p.(Gly174Ser)	NC_000010.10:g.101486787C>T	VUS	1 lab	50455f9185
9:2039777 SMARCA2 CAG>C	9	2039777	2039779	CAG	C	SMARCA2	c.668_669del	NM_003070.5	NP_003061.3:p.(Gln223ProfsTer35)	NC_000009.11:g.2039778_2039779del	VUS	1 lab	5047cffaa5
5:180048056 FLT4 C>T	5	180048056	180048056	C	T	FLT4	c.2168-49G>A	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180048056C>T	(Likely) benign	1 lab	5049bee303
18:55398890 ATP8B1 T>C	18	55398890	55398890	T	C	ATP8B1	c.150A>G	NM_005603.6	NP_005594.2:p.(Glu50=)	NC_000018.9:g.55398890T>C	(Likely) benign	1 lab	504a27cbb2
6:3154537 TUBB2A T>C	6	3154537	3154537	T	C	TUBB2A	c.898A>G	NM_001069.3	NP_001060.1:p.(Met300Val)	NC_000006.11:g.3154537T>C	(Likely) pathogenic	1 lab	504a8798c7
6:7576525 DSP A>T	6	7576525	7576525	A	T	DSP	c.2631-2A>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7576525A>T	(Likely) pathogenic	1 lab	504b825109
21:44840109 SIK1 C>A	21	44840109	44840109	C	A	SIK1	c.972+5G>T	NM_173354.5	NP_775490.2:p.?	NC_000021.8:g.44840109C>A	(Likely) benign	1 lab	504d33da76
3:191093384 CCDC50 A>G	3	191093384	191093384	A	G	CCDC50	c.976+6A>G	NM_178335.3	NP_848018.1:p.?	NC_000003.11:g.191093384A>G	(Likely) benign	1 lab	504ecd2283
6:149718900 TAB2 C>T	6	149718900	149718900	C	T	TAB2	c.1764C>T	NM_015093.6	NP_055908.1:p.(Ser588=)	NC_000006.11:g.149718900C>T	(Likely) benign	1 lab	504efe8344
20:61982085 CHRNA4 A>G	20	61982085	61982085	A	G	CHRNA4	c.678T>C	NM_000744.7	NP_000735.1:p.(Cys226=)	NC_000020.10:g.61982085A>G	(Likely) benign	1 lab	5050080f41
12:121880539 KDM2B G>C	12	121880539	121880539	G	C	KDM2B	c.2705C>G	NM_032590.5	NP_115979.3:p.(Pro902Arg)	NC_000012.11:g.121880539G>C	VUS	1 lab	50502522f9
8:141570526 AGO2 C>A	8	141570526	141570526	C	A	AGO2	c.602G>T	NM_012154.5	NP_036286.2:p.(Gly201Val)	NC_000008.10:g.141570526C>A	(Likely) pathogenic	1 lab	50517a479a
2:179481235 TTN G>A	2	179481235	179481235	G	A	TTN	c.48283C>T	NM_001267550.2	NP_001254479.2:p.(Arg16095Ter)	NC_000002.11:g.179481235G>A	(Likely) pathogenic	1 lab	50566e176c
17:60088575 MED13 T>C	17	60088575	60088575	T	C	MED13	c.1303A>G	NM_005121.3	NP_005112.2:p.(Arg435Gly)	NC_000017.10:g.60088575T>C	VUS	1 lab	5057426b10
3:184043350 EIF4G1 G>A	3	184043350	184043350	G	A	EIF4G1	c.3044G>A	NM_198241.3	NP_937884.2:p.(Arg1015Gln)	NC_000003.11:g.184043350G>A	VUS	1 lab	5063d399cb
1:45293518 PTCH2 A>G	1	45293518	45293518	A	G	PTCH2	c.2055T>C	NM_001166292.2	NP_001159764.1:p.(Ala685=)	NC_000001.10:g.45293518A>G	(Likely) benign	1 lab	5067c6844c
17:48940846 TOB1 G>C	17	48940846	48940846	G	C	TOB1	c.533C>G	NM_005749.4	NP_005740.1:p.(Thr178Ser)	NC_000017.10:g.48940846G>C	VUS	1 lab	5068c4adde
16:334697 PDIA2 C>T	16	334697	334697	C	T	PDIA2	c.445C>T	NM_006849.4	NP_006840.2:p.(Arg149Trp)	NC_000016.9:g.334697C>T	VUS	1 lab	5068da4f15
4:39512327 UGDH A>C	4	39512327	39512327	A	C	UGDH	c.419T>G	NM_003359.4	NP_003350.1:p.(Ile140Ser)	NC_000004.11:g.39512327A>C	VUS	1 lab	506b846668
16:2115518 TSC2 A>C	16	2115518	2115518	A	C	TSC2	c.1600-2A>C	NM_001114382.3	NP_001107854.1:p.?	NC_000016.9:g.2115518A>C	(Likely) pathogenic	1 lab	506bba81a1
19:30193739 C19orf12 C>T	19	30193739	30193739	C	T	C19orf12	c.306G>A	NM_031448.6	NP_113636.2:p.(Thr102=)	NC_000019.9:g.30193739C>T	(Likely) benign	1 lab	506f59d0ce
7:117227875 CFTR T>C	7	117227875	117227875	T	C	CFTR	c.1667T>C	NM_000492.4	NP_000483.3:p.(Ile556Thr)	NC_000007.13:g.117227875T>C	(Likely) pathogenic	1 lab	5072bd4b31
2:175624107 CHRNA1 GA>G	2	175624107	175624116	GA	G	CHRNA1	c.190-5del	NM_001039523.3	NP_001034612.1:p.?	NC_000002.11:g.175624116del	(Likely) benign	1 lab	50745383f0
1:63113838 DOCK7 T>C	1	63113838	63113838	T	C	DOCK7	c.671A>G	NM_001271999.2	NP_001258928.1:p.(Asp224Gly)	NC_000001.10:g.63113838T>C	VUS	1 lab	5075be3d0c
X:152969549 BCAP31 G>A	X	152969549	152969549	G	A	BCAP31	c.342C>T	NM_001139441.1	NP_001132913.1:p.(Phe114=)	NC_000023.10:g.152969549G>A	(Likely) benign	1 lab	5077834f0d
2:179528588 TTN G>C	2	179528588	179528588	G	C	TTN	c.36406C>G	NM_001267550.2	NP_001254479.2:p.(Pro12136Ala)	NC_000002.11:g.179528588G>C	VUS	1 lab	507a487bfe
11:118348760 KMT2A A>G	11	118348760	118348760	A	G	KMT2A	c.3413A>G	NM_001197104.2	NP_001184033.1:p.(Asn1138Ser)	NC_000011.9:g.118348760A>G	VUS	1 lab	5086e59ef1
22:40816857 MRTFA G>A	22	40816857	40816857	G	A	MRTFA	c.1175C>T	NM_020831.6	NP_065882.2:p.(Pro392Leu)	NC_000022.10:g.40816857G>A	VUS	1 lab	50873c096f
X:10153131 CLCN4 C>T	X	10153131	10153131	C	T	CLCN4	c.59C>T	NM_001830.4	NP_001821.2:p.(Pro20Leu)	NC_000023.10:g.10153131C>T	VUS	1 lab	5089c90c12
2:112702647 MERTK C>T	2	112702647	112702647	C	T	MERTK	c.583+10C>T	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112702647C>T	(Likely) benign	1 lab	508b999e11
13:32954030 BRCA2 ACT>A	13	32954030	32954033	ACT	A	BRCA2	c.9099_9100del	NM_000059.4	NP_000050.3:p.(Gln3034ValfsTer9)	NC_000013.10:g.32954032_32954033del	(Likely) pathogenic	1 lab	508c439c8c
14:91770153 CCDC88C G>A	14	91770153	91770153	G	A	CCDC88C	c.3527C>T	NM_001080414.4	NP_001073883.2:p.(Thr1176Met)	NC_000014.8:g.91770153G>A	VUS	1 lab	508ef944e7
X:19362136 PDHA1 G>A	X	19362136	19362136	G	A	PDHA1	c.-20G>A	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19362136G>A	VUS	1 lab	50952731f5
12:52756671 KRT85 C>T	12	52756671	52756671	C	T	KRT85	c.1044G>A	NM_002283.4	NP_002274.1:p.(Arg348=)	NC_000012.11:g.52756671C>T	(Likely) benign	1 lab	5095879cb9
3:119120919 ARHGAP31 T>A	3	119120919	119120919	T	A	ARHGAP31	c.1320T>A	NM_020754.4	NP_065805.2:p.(Asp440Glu)	NC_000003.11:g.119120919T>A	VUS	1 lab	5097553206
17:7915807 GUCY2D C>T	17	7915807	7915807	C	T	GUCY2D	c.1996C>T	NM_000180.4	NP_000171.1:p.(Arg666Trp)	NC_000017.10:g.7915807C>T	(Likely) pathogenic	1 lab	50a582a71b
4:47427797 GABRB1 C>T	4	47427797	47427797	C	T	GABRB1	c.1187C>T	NM_000812.4	NP_000803.2:p.(Ser396Phe)	NC_000004.11:g.47427797C>T	VUS	1 lab	50a74c17c9
2:100623927 AFF3 A>G	2	100623927	100623927	A	G	AFF3	c.175-5T>C	NM_002285.3	NP_002276.2:p.?	NC_000002.11:g.100623927A>G	(Likely) benign	1 lab	50b11841c1
9:101909948 TGFBR1 A>G	9	101909948	101909948	A	G	TGFBR1	c.1268A>G	NM_004612.4	NP_004603.1:p.(Asp423Gly)	NC_000009.11:g.101909948A>G	VUS	1 lab	50b22581c5
1:1454337 ATAD3A G>A	1	1454337	1454337	G	A	ATAD3A	c.481G>A	NM_001170535.3	NP_001164006.1:p.(Glu161Lys)	NC_000001.10:g.1454337G>A	VUS	1 lab	50ba2a0063
3:88205414 C3orf38 AAAG>A	3	88205414	88205422	AAAG	A	C3orf38	c.625_627del	NM_173824.4	NP_776185.2:p.(Glu209del)	NC_000003.11:g.88205420_88205422del	VUS	1 lab	50be66bc22
20:2380984 TGM6 G>A	20	2380984	2380984	G	A	TGM6	c.883G>A	NM_198994.3	NP_945345.2:p.(Val295Met)	NC_000020.10:g.2380984G>A	(Likely) benign	1 lab	50bf2cafe0
8:77619778 ZFHX4 T>C	8	77619778	77619778	T	C	ZFHX4	c.2591-3T>C	NM_024721.5	NP_078997.4:p.?	NC_000008.10:g.77619778T>C	(Likely) benign	1 lab	50bf48e711
17:59482122 TBX2 G>C	17	59482122	59482122	G	C	TBX2	c.1043G>C	NM_005994.4	NP_005985.3:p.(Arg348Pro)	NC_000017.10:g.59482122G>C	VUS	1 lab	50bfe0db7e
9:123173725 CDK5RAP2 G>A	9	123173725	123173725	G	A	CDK5RAP2	c.4325C>T	NM_018249.6	NP_060719.4:p.(Ser1442Leu)	NC_000009.11:g.123173725G>A	(Likely) benign	1 lab	50c465469e
20:44681670 SLC12A5 C>G	20	44681670	44681670	C	G	SLC12A5	c.2452C>G	NM_020708.5	NP_065759.1:p.(Pro818Ala)	NC_000020.10:g.44681670C>G	VUS	1 lab	50c8d0c407
2:179448457 TTN C>A	2	179448457	179448457	C	A	TTN	c.65452G>T	NM_001267550.2	NP_001254479.2:p.(Glu21818Ter)	NC_000002.11:g.179448457C>A	(Likely) pathogenic	1 lab	50cbe15c03
8:144900542 PUF60 C>A	8	144900542	144900542	C	A	PUF60	c.621+1G>T	NM_001362896.2	NP_001349825.1:p.?	NC_000008.10:g.144900542C>A	(Likely) pathogenic	1 lab	50d5ce7998
2:202151163 CASP8 A>G	2	202151163	202151163	A	G	CASP8	c.1482-19A>G	NM_001080125.2	NP_001073594.1:p.?	NC_000002.11:g.202151163A>G	(Likely) benign	1 lab	50d61a78a7
15:89861811 POLG C>T	15	89861811	89861811	C	T	POLG	c.3443G>A	NM_002693.3	NP_002684.1:p.(Arg1148His)	NC_000015.9:g.89861811C>T	VUS	1 lab	50d78eb1bb
1:228403248 OBSCN G>T	1	228403248	228403248	G	T	OBSCN	c.1829-16G>T	NM_052843.4	NP_443075.3:p.?	NC_000001.10:g.228403248G>T	(Likely) benign	1 lab	50d98c8c5e
22:19959919 ARVCF C>A	22	19959919	19959919	C	A	ARVCF	c.2657G>T	NM_001670.3	NP_001661.1:p.(Gly886Val)	NC_000022.10:g.19959919C>A	VUS	1 lab	50dc11238b
1:145509008 RBM8A C>CGTTGACT	1	145509008	145509016	C	CGTTGACT	RBM8A	c.437_443dup	NM_005105.5	NP_005096.1:p.(Trp148CysfsTer2)	NC_000001.10:g.145509010_145509016dup	(Likely) pathogenic	1 lab	50de11c0cd
14:91804441 CCDC88C C>G	14	91804441	91804441	C	G	CCDC88C	c.958G>C	NM_001080414.4	NP_001073883.2:p.(Glu320Gln)	NC_000014.8:g.91804441C>G	VUS	1 lab	50e4265965
8:87076858 PSKH2 T>C	8	87076858	87076858	T	C	PSKH2	c.188A>G	NM_033126.3	NP_149117.1:p.(Tyr63Cys)	NC_000008.10:g.87076858T>C	VUS	1 lab	50e5717615
X:51487594 GSPT2 A>G	X	51487594	51487594	A	G	GSPT2	c.872A>G	NM_018094.5	NP_060564.2:p.(His291Arg)	NC_000023.10:g.51487594A>G	VUS	1 lab	50ec70a2ab
17:39767744 KRT16 A>G	17	39767744	39767744	A	G	KRT16	c.624T>C	NM_005557.4	NP_005548.2:p.(His208=)	NC_000017.10:g.39767744A>G	(Likely) benign	1 lab	50ece5a2a5
17:39661689 KRT13 G>A	17	39661689	39661689	G	A	KRT13	c.114C>T	NM_153490.3	NP_705694.3:p.(Ser38=)	NC_000017.10:g.39661689G>A	(Likely) benign	1 lab	50f18a0ea0
19:11145752 SMARCA4 C>T	19	11145752	11145752	C	T	SMARCA4	c.4114C>T	NM_003072.5	NP_003063.2:p.(Arg1372Cys)	NC_000019.9:g.11145752C>T	(Likely) pathogenic	1 lab	50fb41b424
5:35763802 SPEF2 A>T	5	35763802	35763802	A	T	SPEF2	c.3799A>T	NM_024867.4	NP_079143.3:p.(Met1267Leu)	NC_000005.9:g.35763802A>T	VUS	1 lab	50fd97b6c4
1:16256201 SPEN G>A	1	16256201	16256201	G	A	SPEN	c.3466G>A	NM_015001.3	NP_055816.2:p.(Glu1156Lys)	NC_000001.10:g.16256201G>A	VUS	1 lab	50ffd2c2b8
X:54263988 WNK3 A>G	X	54263988	54263988	A	G	WNK3	c.4015-4T>C	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54263988A>G	(Likely) benign	1 lab	5105de6445
18:3457495 TGIF1 G>A	18	3457495	3457495	G	A	TGIF1	c.376G>A	NM_173208.3	NP_775300.1:p.(Val126Met)	NC_000018.9:g.3457495G>A	(Likely) benign	1 lab	510b3db99d
16:86612691 FOXL1 GCTA>G	16	86612691	86612696	GCTA	G	FOXL1	c.365_367del	NM_005250.3	NP_005241.1:p.(Tyr122del)	NC_000016.9:g.86612694_86612696del	VUS	1 lab	510ffa6ed7
1:160267364 COPA G>A	1	160267364	160267364	G	A	COPA	c.2149C>T	NM_004371.4	NP_004362.2:p.(Arg717Cys)	NC_000001.10:g.160267364G>A	VUS	1 lab	51116de7ac
9:97876936 FANCC C>T	9	97876936	97876936	C	T	FANCC	c.1129G>A	NM_000136.3	NP_000127.2:p.(Glu377Lys)	NC_000009.11:g.97876936C>T	VUS	1 lab	5112a41ab9
6:30624040 DHX16 A>AG	6	30624040	30624041	A	AG	DHX16	c.2432dup	NM_003587.5	NP_003578.2:p.(Gly812TrpfsTer21)	NC_000006.11:g.30624041dup	VUS	1 lab	5114bc13bf
2:55912120 PNPT1 T>C	2	55912120	55912120	T	C	PNPT1	c.361A>G	NM_033109.5	NP_149100.2:p.(Ile121Val)	NC_000002.11:g.55912120T>C	(Likely) benign	1 lab	5115f9ab26
17:56356376 MPO G>C	17	56356376	56356376	G	C	MPO	c.878C>G	NM_000250.2	NP_000241.1:p.(Pro293Arg)	NC_000017.10:g.56356376G>C	VUS	1 lab	511dec760f
1:46660532 POMGNT1 G>A	1	46660532	46660532	G	A	POMGNT1	c.636C>T	NM_001243766.1	NP_001230695.1:p.(Phe212=)	NC_000001.10:g.46660532G>A	(Likely) pathogenic	1 lab	511f39d874
1:109795081 CELSR2 C>T	1	109795081	109795081	C	T	CELSR2	c.2380C>T	NM_001408.3	NP_001399.1:p.(Gln794Ter)	NC_000001.10:g.109795081C>T	VUS	1 lab	511f4fb007
17:48652937 CACNA1G G>A	17	48652937	48652937	G	A	CACNA1G	c.1174G>A	NM_018896.5	NP_061496.2:p.(Val392Met)	NC_000017.10:g.48652937G>A	VUS	1 lab	5120481c53
7:74160241 GTF2I T>G	7	74160241	74160241	T	G	GTF2I	c.1954T>G	NM_032999.4	NP_127492.1:p.(Tyr652Asp)	NC_000007.13:g.74160241T>G	VUS	1 lab	5121330a9e
5:150905384 FAT2 A>G	5	150905384	150905384	A	G	FAT2	c.10451T>C	NM_001447.3	NP_001438.1:p.(Val3484Ala)	NC_000005.9:g.150905384A>G	(Likely) benign	1 lab	51223f5249
6:87968280 ZNF292 C>T	6	87968280	87968280	C	T	ZNF292	c.4933C>T	NM_015021.3	NP_055836.1:p.(Gln1645Ter)	NC_000006.11:g.87968280C>T	VUS	1 lab	5123662912
17:29552267 NF1 T>TG	17	29552267	29552269	T	TG	NF1	c.2001+1dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29552269dup	(Likely) pathogenic	1 lab	5125b05966
X:149828946 MTM1 C>T	X	149828946	149828946	C	T	MTM1	c.1456C>T	NM_000252.3	NP_000243.1:p.(Arg486Ter)	NC_000023.10:g.149828946C>T	(Likely) pathogenic	1 lab	5127981968
11:125887165 CDON G>A	11	125887165	125887165	G	A	CDON	c.746C>T	NM_016952.5	NP_058648.4:p.(Pro249Leu)	NC_000011.9:g.125887165G>A	(Likely) benign	1 lab	5127cf8bad
13:110830236 COL4A1 G>A	13	110830236	110830236	G	A	COL4A1	c.2669C>T	NM_001845.6	NP_001836.3:p.(Pro890Leu)	NC_000013.10:g.110830236G>A	(Likely) benign	1 lab	512d789d68
3:9512604 SETD5 G>C	3	9512604	9512604	G	C	SETD5	c.3186G>C	NM_001080517.3	NP_001073986.1:p.(Gln1062His)	NC_000003.11:g.9512604G>C	VUS	1 lab	5133420759
18:33952675 FHOD3 C>T	18	33952675	33952675	C	T	FHOD3	c.305C>T	NM_025135.5	NP_079411.2:p.(Thr102Met)	NC_000018.9:g.33952675C>T	VUS	1 lab	5142f41681
17:37822299 TCAP C>G	17	37822299	37822299	C	G	TCAP	c.441C>G	NM_003673.4	NP_003664.1:p.(Ser147Arg)	NC_000017.10:g.37822299C>G	VUS	1 lab	5143a24bf6
3:196215451 RNF168 CA>C	3	196215451	196215462	CA	C	RNF168	c.378+26del	NM_152617.4	NP_689830.2:p.?	NC_000003.11:g.196215462del	(Likely) benign	1 lab	514479e45a
5:74016956 HEXB G>A	5	74016956	74016956	G	A	HEXB	c.952G>A	NM_001292004.2	NP_001278933.1:p.(Ala318Thr)	NC_000005.9:g.74016956G>A	(Likely) benign	1 lab	51482f1590
18:32455280 DTNA G>A	18	32455280	32455280	G	A	DTNA	c.1581G>A	NM_001198939.2	NP_001185868.1:p.(Ala527=)	NC_000018.9:g.32455280G>A	(Likely) benign	1 lab	5148ef0d42
6:138584706 ARFGEF3 G>T	6	138584706	138584706	G	T	ARFGEF3	c.2086G>T	NM_020340.5	NP_065073.3:p.(Val696Leu)	NC_000006.11:g.138584706G>T	VUS	1 lab	5149a075bc
11:6648787 DCHS1 C>T	11	6648787	6648787	C	T	DCHS1	c.5483G>A	NM_003737.4	NP_003728.1:p.(Arg1828Gln)	NC_000011.9:g.6648787C>T	(Likely) benign	1 lab	514a73a0ba
19:36339571 NPHS1 G>A	19	36339571	36339571	G	A	NPHS1	c.1138C>T	NM_004646.4	NP_004637.1:p.(Gln380Ter)	NC_000019.9:g.36339571G>A	(Likely) pathogenic	1 lab	514c0ca1be
X:31854856 DMD T>A	X	31854856	31854856	T	A	DMD	c.7179A>T	NM_004006.3	NP_003997.2:p.(Lys2393Asn)	NC_000023.10:g.31854856T>A	(Likely) benign	1 lab	5161eddd83
13:49039206 RB1 C>T	13	49039206	49039206	C	T	RB1	c.2284C>T	NM_000321.3	NP_000312.2:p.(Gln762Ter)	NC_000013.10:g.49039206C>T	(Likely) pathogenic	1 lab	5164b07885
17:48653165 CACNA1G C>T	17	48653165	48653165	C	T	CACNA1G	c.1402C>T	NM_018896.5	NP_061496.2:p.(Pro468Ser)	NC_000017.10:g.48653165C>T	(Likely) benign	1 lab	51793e7839
22:19882976 TXNRD2 G>T	22	19882976	19882976	G	T	TXNRD2	c.903C>A	NM_006440.5	NP_006431.2:p.(Thr301=)	NC_000022.10:g.19882976G>T	(Likely) benign	1 lab	5179c8bfb3
4:8869587 HMX1 T>C	4	8869587	8869587	T	C	HMX1	c.879A>G	NM_018942.3	NP_061815.2:p.(Ala293=)	NC_000004.11:g.8869587T>C	(Likely) benign	1 lab	51896cca6d
1:1451444 ATAD3A G>T	1	1451444	1451444	G	T	ATAD3A	c.258G>T	NM_001170535.3	NP_001164006.1:p.(Gln86His)	NC_000001.10:g.1451444G>T	VUS	1 lab	518d7914d8
8:87751848 CNGB3 GT>G	8	87751848	87751866	GT	G	CNGB3	c.211+34del	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87751866del	(Likely) benign	1 lab	51967d9230
9:104189882 ALDOB T>A	9	104189882	104189882	T	A	ALDOB	c.422A>T	NM_000035.4	NP_000026.2:p.(Asp141Val)	NC_000009.11:g.104189882T>A	VUS	1 lab	51bd31ce47
17:38978765 KRT10 ATCC>A	17	38978765	38978789	ATCC	A	KRT10	c.70_72del	NM_000421.5	NP_000412.4:p.(Gly24del)	NC_000017.10:g.38978787_38978789del	(Likely) benign	1 lab	519fa01a0f
1:36564770 COL8A2 ATAGTAATG>A	1	36564770	36564778	ATAGTAATG	A	COL8A2	c.504_511del	NM_005202.4	NP_005193.1:p.(Ile169ProfsTer30)	NC_000001.10:g.36564771_36564778del	VUS	1 lab	51a395de46
1:162724460 DDR2 G>A	1	162724460	162724460	G	A	DDR2	c.232G>A	NM_006182.4	NP_006173.2:p.(Val78Met)	NC_000001.10:g.162724460G>A	VUS	1 lab	51a73045cb
2:179421841 TTN A>G	2	179421841	179421841	A	G	TTN	c.88040T>C	NM_001267550.2	NP_001254479.2:p.(Ile29347Thr)	NC_000002.11:g.179421841A>G	VUS	1 lab	51a78cbd24
5:38886256 OSMR A>G	5	38886256	38886256	A	G	OSMR	c.955A>G	NM_003999.3	NP_003990.1:p.(Arg319Gly)	NC_000005.9:g.38886256A>G	VUS	1 lab	51ab8389b8
X:17394202 NHS G>A	X	17394202	17394202	G	A	NHS	c.322G>A	NM_198270.4	NP_938011.1:p.(Glu108Lys)	NC_000023.10:g.17394202G>A	VUS	1 lab	51aeda047b
6:7579556 DSP C>T	6	7579556	7579556	C	T	DSP	c.3133C>T	NM_004415.4	NP_004406.2:p.(Arg1045Ter)	NC_000006.11:g.7579556C>T	(Likely) pathogenic	1 lab	51af41d4df
2:48026338 MSH6 T>G	2	48026338	48026338	T	G	MSH6	c.1216T>G	NM_000179.3	NP_000170.1:p.(Cys406Gly)	NC_000002.11:g.48026338T>G	VUS	1 lab	51b0270802
16:31501517 SLC5A2 G>A	16	31501517	31501517	G	A	SLC5A2	c.1758G>A	NM_003041.4	NP_003032.1:p.(Gln586=)	NC_000016.9:g.31501517G>A	(Likely) benign	1 lab	51b1f60786
13:32913689 BRCA2 TCC>T	13	32913689	32913691	TCC	T	BRCA2	c.5198_5199del	NM_000059.4	NP_000050.3:p.(Ser1733Ter)	NC_000013.10:g.32913690_32913691del	(Likely) pathogenic	1 lab	51b77ded98
18:32438319 DTNA G>T	18	32438319	32438319	G	T	DTNA	c.1522G>T	NM_001390.4	NP_001381.2:p.(Ala508Ser)	NC_000018.9:g.32438319G>T	VUS	1 lab	51be4c12ce
14:74756997 ABCD4 G>A	14	74756997	74756997	G	A	ABCD4	c.1324C>T	NM_005050.4	NP_005041.1:p.(Arg442Trp)	NC_000014.8:g.74756997G>A	VUS	1 lab	51bfa5af9a
3:50403503 CACNA2D2 T>C	3	50403503	50403503	T	C	CACNA2D2	c.2801A>G	NM_006030.4	NP_006021.2:p.(Gln934Arg)	NC_000003.11:g.50403503T>C	VUS	1 lab	51c3742ce3
15:43545153 TGM5 G>T	15	43545153	43545153	G	T	TGM5	c.685-19C>A	NM_201631.4	NP_963925.2:p.?	NC_000015.9:g.43545153G>T	(Likely) benign	1 lab	51cca647b7
16:70697633 MTSS2 C>T	16	70697633	70697633	C	T	MTSS2	c.2191G>A	NM_138383.3	NP_612392.1:p.(Val731Ile)	NC_000016.9:g.70697633C>T	VUS	1 lab	51ce7df746
X:9656179 TBL1X TGCGGCGGCG>T	X	9656179	9656196	TGCGGCGGCG	T	TBL1X	c.489_497del	NM_005647.4	NP_005638.1:p.(Ala166_Ala168del)	NC_000023.10:g.9656188_9656196del	VUS	1 lab	51d0e24e44
10:104417107 TRIM8 G>C	10	104417107	104417107	G	C	TRIM8	c.1652G>C	NM_030912.3	NP_112174.2:p.(Ser551Thr)	NC_000010.10:g.104417107G>C	VUS	1 lab	51d13474b3
5:129039960 ADAMTS19 G>A	5	129039960	129039960	G	A	ADAMTS19	c.3188G>A	NM_133638.6	NP_598377.4:p.(Arg1063His)	NC_000005.9:g.129039960G>A	VUS	1 lab	51d7308f2d
X:19372614 PDHA1 C>T	X	19372614	19372614	C	T	PDHA1	c.516C>T	NM_000284.4	NP_000275.1:p.(Pro172=)	NC_000023.10:g.19372614C>T	VUS	1 lab	575d4938e3
1:156108511 LMNA G>C	1	156108511	156108511	G	C	LMNA	c.1931G>C	NM_170707.4	NP_733821.1:p.(Arg644Pro)	NC_000001.10:g.156108511G>C	VUS	1 lab	51de01aafd
2:179315141 PRKRA G>GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	2	179315141	179315142	G	GAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	PRKRA	c.66-4_66-3insAGCCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTT	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179315141_179315142insAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGGCT	(Likely) benign	1 lab	51df38552d
13:32912324 BRCA2 CATAATG>C	13	32912324	32912334	CATAATG	C	BRCA2	c.3837_3842del	NM_000059.4	NP_000050.3:p.(Asn1279_Asp1280del)	NC_000013.10:g.32912329_32912334del	VUS	1 lab	51e463e45f
2:179437127 TTN A>G	2	179437127	179437127	A	G	TTN	c.73732T>C	NM_001267550.2	NP_001254479.2:p.(Trp24578Arg)	NC_000002.11:g.179437127A>G	VUS	1 lab	51e4d5cea3
14:56645097 PELI2 G>A	14	56645097	56645097	G	A	PELI2	c.122G>A	NM_021255.3	NP_067078.1:p.(Ser41Asn)	NC_000014.8:g.56645097G>A	VUS	1 lab	51e7544ce3
6:15586009 DTNBP1 G>T	6	15586009	15586009	G	T	DTNBP1	c.511+7281C>A	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15586009G>T	(Likely) benign	1 lab	51e8d15a72
11:6630652 ILK G>A	11	6630652	6630652	G	A	ILK	c.728+13G>A	NM_001014795.3	NP_001014795.1:p.?	NC_000011.9:g.6630652G>A	(Likely) benign	1 lab	51e9785125
10:73472868 C10orf105 C>G	10	73472868	73472868	C	G	C10orf105	c.*2825G>C	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472868C>G	(Likely) benign	1 lab	51ea5d5db5
13:48954381 RB1 A>G	13	48954381	48954381	A	G	RB1	c.1498+4A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954381A>G	(Likely) pathogenic	1 lab	51ede3f15d
16:2333223 ABCA3 CCT>C	16	2333223	2333225	CCT	C	ABCA3	c.3997_3998del	NM_001089.3	NP_001080.2:p.(Arg1333GlyfsTer24)	NC_000016.9:g.2333224_2333225del	(Likely) pathogenic	1 lab	51ee080a59
20:50235204 ATP9A C>T	20	50235204	50235204	C	T	ATP9A	c.2347G>A	NM_006045.3	NP_006036.1:p.(Val783Ile)	NC_000020.10:g.50235204C>T	VUS	1 lab	51eea18dac
17:78172344 CARD14 C>T	17	78172344	78172344	C	T	CARD14	c.1805C>T	NM_024110.4	NP_077015.2:p.(Ser602Leu)	NC_000017.10:g.78172344C>T	VUS	1 lab	51f0f52892
17:40688535 NAGLU G>A	17	40688535	40688535	G	A	NAGLU	c.245G>A	NM_000263.4	NP_000254.2:p.(Gly82Asp)	NC_000017.10:g.40688535G>A	(Likely) pathogenic	1 lab	51f15e65cd
20:2843957 VPS16 C>G	20	2843957	2843957	C	G	VPS16	c.1389C>G	NM_022575.4	NP_072097.2:p.(Tyr463Ter)	NC_000020.10:g.2843957C>G	(Likely) pathogenic	1 lab	51f4271d6e
14:91770262 CCDC88C G>A	14	91770262	91770262	G	A	CCDC88C	c.3418C>T	NM_001080414.4	NP_001073883.2:p.(Gln1140Ter)	NC_000014.8:g.91770262G>A	(Likely) pathogenic	1 lab	51f45fd40b
12:57909013 MARS1 C>T	12	57909013	57909013	C	T	MARS1	c.2285C>T	NM_004990.4	NP_004981.2:p.(Thr762Met)	NC_000012.11:g.57909013C>T	VUS	1 lab	52040db276
8:28573707 EXTL3 C>T	8	28573707	28573707	C	T	EXTL3	c.131C>T	NM_001440.4	NP_001431.1:p.(Pro44Leu)	NC_000008.10:g.28573707C>T	VUS	1 lab	52051756b9
18:32374206 DTNA G>A	18	32374206	32374206	G	A	DTNA	c.354G>A	NM_001198939.2	NP_001185868.1:p.(Ala118=)	NC_000018.9:g.32374206G>A	(Likely) benign	1 lab	52067bd787
3:191097966 CCDC50 T>C	3	191097966	191097966	T	C	CCDC50	c.995T>C	NM_178335.3	NP_848018.1:p.(Met332Thr)	NC_000003.11:g.191097966T>C	(Likely) benign	1 lab	520a08d3be
17:48655833 CACNA1G C>T	17	48655833	48655833	C	T	CACNA1G	c.2209C>T	NM_018896.5	NP_061496.2:p.(Arg737Ter)	NC_000017.10:g.48655833C>T	VUS	1 lab	520b26421b
3:52415789 DNAH1 A>G	3	52415789	52415789	A	G	DNAH1	c.7742A>G	NM_015512.5	NP_056327.4:p.(Asn2581Ser)	NC_000003.11:g.52415789A>G	VUS	1 lab	520b520827
2:179458096 TTN G>A	2	179458096	179458096	G	A	TTN	c.53916C>T	NM_001256850.1	NP_001243779.1:p.(Tyr17972=)	NC_000002.11:g.179458096G>A	(Likely) benign	1 lab	520e8923d4
20:6091054 FERMT1 C>T	20	6091054	6091054	C	T	FERMT1	c.637G>A	NM_017671.5	NP_060141.3:p.(Glu213Lys)	NC_000020.10:g.6091054C>T	VUS	1 lab	520ef97374
3:38655189 SCN5A G>T	3	38655189	38655189	G	T	SCN5A	c.703+45C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38655189G>T	(Likely) benign	1 lab	521019a2ea
8:42729074 RNF170 C>G	8	42729074	42729074	C	G	RNF170	c.213G>C	NM_001160223.2	NP_001153695.1:p.(Gln71His)	NC_000008.10:g.42729074C>G	VUS	1 lab	52158a2a65
14:23855220 MYH6 C>CCACGG	14	23855220	23855229	C	CCACGG	MYH6	c.5075_5079dup	NM_002471.4	NP_002462.2:p.(Val1694ProfsTer17)	NC_000014.8:g.23855225_23855229dup	VUS	1 lab	5216d48ee4
15:76603769 ETFA C>T	15	76603769	76603769	C	T	ETFA	c.-40G>A	NM_000126.4	NP_000117.1:p.?	NC_000015.9:g.76603769C>T	(Likely) pathogenic	1 lab	52173d95ad
11:5270686 HBG1 G>A	11	5270686	5270686	G	A	HBG1	c.227C>T	NM_000559.3	NP_000550.2:p.(Thr76Ile)	NC_000011.9:g.5270686G>A	(Likely) benign	1 lab	5218e6edcc
11:67926294 KMT5B C>T	11	67926294	67926294	C	T	KMT5B	c.1519G>A	NM_017635.5	NP_060105.3:p.(Gly507Arg)	NC_000011.9:g.67926294C>T	VUS	1 lab	521909238e
X:153220360 HCFC1 A>G	X	153220360	153220360	A	G	HCFC1	c.3490T>C	NM_005334.3	NP_005325.2:p.(Ser1164Pro)	NC_000023.10:g.153220360A>G	(Likely) benign	1 lab	521b49882c
11:119510644 NECTIN1 A>C	11	119510644	119510644	A	C	NECTIN1	c.1082T>G	NM_203285.2	NP_976030.1:p.(Val361Gly)	NC_000011.9:g.119510644A>C	(Likely) benign	1 lab	52292f91b9
10:61552774 CCDC6 C>T	10	61552774	61552774	C	T	CCDC6	c.1326G>A	NM_005436.5	NP_005427.2:p.(Pro442=)	NC_000010.10:g.61552774C>T	(Likely) benign	1 lab	52347b2d14
3:48623264 COL7A1 A>G	3	48623264	48623264	A	G	COL7A1	c.3785T>C	NM_000094.4	NP_000085.1:p.(Met1262Thr)	NC_000003.11:g.48623264A>G	(Likely) benign	1 lab	523ac0d0ce
12:57905559 MARS1 C>T	12	57905559	57905559	C	T	MARS1	c.1447C>T	NM_004990.4	NP_004981.2:p.(Arg483Cys)	NC_000012.11:g.57905559C>T	VUS	1 lab	52419c8d86
2:179448504 TTN TCACCAGGAAGTTTG>T	2	179448504	179448520	TCACCAGGAAGTTTG	T	TTN	c.65391_65404del	NM_001267550.2	NP_001254479.2:p.(Cys21797Ter)	NC_000002.11:g.179448507_179448520del	(Likely) pathogenic	1 lab	52469c62f2
5:180038451 FLT4 C>T	5	180038451	180038451	C	T	FLT4	c.3566G>A	NM_182925.5	NP_891555.2:p.(Arg1189His)	NC_000005.9:g.180038451C>T	VUS	1 lab	5249c2f63b
2:179617833 TTN C>T	2	179617833	179617833	C	T	TTN	c.11311+18G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179617833C>T	(Likely) benign	1 lab	524cd0d925
5:11385274 CTNND2 C>CGCGGCGGCG	5	11385274	11385298	C	CGCGGCGGCG	CTNND2	c.671_679dup	NM_001332.4	NP_001323.1:p.(Pro224_Pro226dup)	NC_000005.9:g.11385290_11385298dup	VUS	1 lab	524d5d4c13
2:48026050 MSH6 CTT>C	2	48026050	48026052	CTT	C	MSH6	c.929_930del	NM_000179.3	NP_000170.1:p.(Leu310GlnfsTer6)	NC_000002.11:g.48026051_48026052del	(Likely) pathogenic	1 lab	524df65db8
22:28147047 MN1 C>A	22	28147047	28147047	C	A	MN1	c.3819G>T	NM_002430.3	NP_002421.3:p.(Gln1273His)	NC_000022.10:g.28147047C>A	VUS	1 lab	5258d87049
7:44260486 CAMK2B TCTC>T	7	44260486	44260491	TCTC	T	CAMK2B	c.1609_1611del	NM_001220.5	NP_001211.3:p.(Glu537del)	NC_000007.13:g.44260489_44260491del	VUS	1 lab	5263308d90
5:60214128 ERCC8 A>G	5	60214128	60214128	A	G	ERCC8	c.363T>C	NM_000082.4	NP_000073.1:p.(Asp121=)	NC_000005.9:g.60214128A>G	(Likely) benign	1 lab	5264c73a64
4:190878563 FRG1 C>A	4	190878563	190878563	C	A	FRG1	c.443C>A	NM_004477.3	NP_004468.1:p.(Ala148Asp)	NC_000004.11:g.190878563C>A	(Likely) benign	1 lab	526e9d0e22
2:85040178 DNAH6 T>A	2	85040178	85040178	T	A	DNAH6	c.11926-4T>A	NM_001370.2	NP_001361.1:p.?	NC_000002.11:g.85040178T>A	(Likely) benign	1 lab	526febb341
14:99641198 BCL11B C>T	14	99641198	99641198	C	T	BCL11B	c.1975G>A	NM_138576.4	NP_612808.1:p.(Ala659Thr)	NC_000014.8:g.99641198C>T	(Likely) benign	1 lab	5277b473c8
6:79655900 PHIP C>T	6	79655900	79655900	C	T	PHIP	c.4448G>A	NM_017934.7	NP_060404.4:p.(Arg1483Gln)	NC_000006.11:g.79655900C>T	VUS	1 lab	5277c66e6c
4:73944392 ANKRD17 T>G	4	73944392	73944392	T	G	ANKRD17	c.7036A>C	NM_001286771.3	NP_001273700.1:p.(Ile2346Leu)	NC_000004.11:g.73944392T>G	VUS	1 lab	527823a144
20:18523787 SEC23B C>T	20	18523787	18523787	C	T	SEC23B	c.1636C>T	NM_006363.6	NP_006354.2:p.(Arg546Trp)	NC_000020.10:g.18523787C>T	VUS	1 lab	527aa7f46e
3:186504930 EIF4A2 TAC>T	3	186504930	186504934	TAC	T	EIF4A2	c.789_790del	NM_001967.4	NP_001958.2:p.(Cys265Ter)	NC_000003.11:g.186504933_186504934del	(Likely) pathogenic	1 lab	527f37e0cd
6:15468861 JARID2 C>T	6	15468861	15468861	C	T	JARID2	c.582C>T	NM_004973.4	NP_004964.2:p.(Asp194=)	NC_000006.11:g.15468861C>T	(Likely) benign	1 lab	527f8054fc
6:56471402 DST G>A	6	56471402	56471402	G	A	DST	c.5184+3823C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56471402G>A	(Likely) benign	1 lab	527fe558c3
21:47545390 COL6A2 C>T	21	47545390	47545390	C	T	COL6A2	c.1828C>T	NM_001849.4	NP_001840.3:p.(Arg610Cys)	NC_000021.8:g.47545390C>T	VUS	1 lab	5280c36348
10:123258069 FGFR2 T>A	10	123258069	123258069	T	A	FGFR2	c.1612A>T	NM_000141.5	NP_000132.3:p.(Met538Leu)	NC_000010.10:g.123258069T>A	VUS	1 lab	5286cd4e16
8:61765088 CHD7 C>T	8	61765088	61765088	C	T	CHD7	c.5926C>T	NM_017780.4	NP_060250.2:p.(Arg1976Cys)	NC_000008.10:g.61765088C>T	VUS	1 lab	52897c3608
4:158065034 GLRB C>T	4	158065034	158065034	C	T	GLRB	c.827C>T	NM_000824.5	NP_000815.1:p.(Pro276Leu)	NC_000004.11:g.158065034C>T	VUS	1 lab	528997ab57
16:28841270 ATXN2L T>G	16	28841270	28841270	T	G	ATXN2L	c.925T>G	NM_148416.3	NP_680782.1:p.(Tyr309Asp)	NC_000016.9:g.28841270T>G	VUS	1 lab	528aad0cc6
2:179641090 TTN T>A	2	179641090	179641090	T	A	TTN	c.5501A>T	NM_001267550.2	NP_001254479.2:p.(Asp1834Val)	NC_000002.11:g.179641090T>A	VUS	1 lab	528c3b33fe
14:36211597 RALGAPA1 C>G	14	36211597	36211597	C	G	RALGAPA1	c.1426G>C	NM_014990.3	NP_055805.1:p.(Glu476Gln)	NC_000014.8:g.36211597C>G	VUS	1 lab	5292b0f6fc
1:21902361 ALPL A>T	1	21902361	21902361	A	T	ALPL	c.1133A>T	NM_000478.6	NP_000469.3:p.(Asp378Val)	NC_000001.10:g.21902361A>T	(Likely) pathogenic	1 lab	5293343c89
X:70361097 MED12 ACAG>A	X	70361097	70361120	ACAG	A	MED12	c.6306_6308del	NM_005120.3	NP_005111.2:p.(Gln2115del)	NC_000023.10:g.70361118_70361120del	VUS	1 lab	529629c6dd
17:68172300 KCNJ2 T>C	17	68172300	68172300	T	C	KCNJ2	c.1120T>C	NM_000891.3	NP_000882.1:p.(Phe374Leu)	NC_000017.10:g.68172300T>C	VUS	1 lab	52971acc23
7:40027451 CDK13 G>A	7	40027451	40027451	G	A	CDK13	c.1465G>A	NM_003718.5	NP_003709.3:p.(Ala489Thr)	NC_000007.13:g.40027451G>A	(Likely) benign	1 lab	5297eb66bc
2:85040203 DNAH6 C>T	2	85040203	85040203	C	T	DNAH6	c.11947C>T	NM_001370.2	NP_001361.1:p.(Pro3983Ser)	NC_000002.11:g.85040203C>T	VUS	1 lab	5297fcc4b8
16:15808860 MYH11 C>T	16	15808860	15808860	C	T	MYH11	c.5692G>A	NM_002474.3	NP_002465.1:p.(Ala1898Thr)	NC_000016.9:g.15808860C>T	VUS	1 lab	529aa50b95
19:4817518 TICAM1 G>T	19	4817518	4817518	G	T	TICAM1	c.872C>A	NM_182919.4	NP_891549.1:p.(Pro291His)	NC_000019.9:g.4817518G>T	VUS	1 lab	529b47438c
5:137726911 KDM3B G>A	5	137726911	137726911	G	A	KDM3B	c.1590G>A	NM_016604.4	NP_057688.3:p.(Met530Ile)	NC_000005.9:g.137726911G>A	VUS	1 lab	529d51237e
20:30414495 MYLK2 G>T	20	30414495	30414495	G	T	MYLK2	c.1060G>T	NM_033118.4	NP_149109.1:p.(Glu354Ter)	NC_000020.10:g.30414495G>T	VUS	1 lab	529e15cbc6
22:46318780 WNT7B A>ACTTG	22	46318780	46318784	A	ACTTG	WNT7B	c.1002_1005dup	NM_058238.3	NP_478679.1:p.(Cys336GlnfsTer50)	NC_000022.10:g.46318781_46318784dup	(Likely) pathogenic	1 lab	529fc781f9
10:105794405 COL17A1 C>T	10	105794405	105794405	C	T	COL17A1	c.3740G>A	NM_000494.4	NP_000485.3:p.(Arg1247Gln)	NC_000010.10:g.105794405C>T	VUS	1 lab	52a49a7dd9
5:140951529 DIAPH1 C>T	5	140951529	140951529	C	T	DIAPH1	c.2437G>A	NM_005219.5	NP_005210.3:p.(Ala813Thr)	NC_000005.9:g.140951529C>T	VUS	1 lab	52a7a4905b
6:111697822 REV3L C>T	6	111697822	111697822	C	T	REV3L	c.1502G>A	NM_001286431.2	NP_001273360.1:p.(Cys501Tyr)	NC_000006.11:g.111697822C>T	VUS	1 lab	52a81ea2de
19:42486057 ATP1A3 C>T	19	42486057	42486057	C	T	ATP1A3	c.1192+3G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42486057C>T	(Likely) benign	1 lab	52ae8e81ea
8:100128022 VPS13B A>G	8	100128022	100128022	A	G	VPS13B	c.857A>G	NM_017890.5	NP_060360.3:p.(Tyr286Cys)	NC_000008.10:g.100128022A>G	VUS	1 lab	52b1429dbd
18:50976989 DCC G>A	18	50976989	50976989	G	A	DCC	c.3349G>A	NM_005215.4	NP_005206.2:p.(Val1117Met)	NC_000018.9:g.50976989G>A	VUS	1 lab	52b21c7e13
17:33904054 PEX12 T>C	17	33904054	33904054	T	C	PEX12	c.680+3A>G	NM_000286.3	NP_000277.1:p.?	NC_000017.10:g.33904054T>C	(Likely) benign	1 lab	52b2319cbf
4:1902392 NSD2 G>A	4	1902392	1902392	G	A	NSD2	c.11G>A	NM_133330.3	NP_579877.1:p.(Ser4Asn)	NC_000004.11:g.1902392G>A	(Likely) benign	1 lab	52b7699914
3:142185175 ATR A>T	3	142185175	142185175	A	T	ATR	c.6888T>A	NM_001184.4	NP_001175.2:p.(Phe2296Leu)	NC_000003.11:g.142185175A>T	VUS	1 lab	52b9224dac
8:48827968 PRKDC A>G	8	48827968	48827968	A	G	PRKDC	c.2537T>C	NM_006904.7	NP_008835.5:p.(Ile846Thr)	NC_000008.10:g.48827968A>G	VUS	1 lab	52bf425b0b
6:106553512 PRDM1 C>G	6	106553512	106553512	C	G	PRDM1	c.1477C>G	NM_001198.4	NP_001189.2:p.(His493Asp)	NC_000006.11:g.106553512C>G	VUS	1 lab	52c391cb3f
17:73951942 ACOX1 T>C	17	73951942	73951942	T	C	ACOX1	c.625A>G	NM_004035.7	NP_004026.2:p.(Ile209Val)	NC_000017.10:g.73951942T>C	VUS	1 lab	52c3cd8726
2:179485606 TTN T>G	2	179485606	179485606	T	G	TTN	c.45731A>C	NM_001267550.2	NP_001254479.2:p.(Glu15244Ala)	NC_000002.11:g.179485606T>G	VUS	1 lab	52c45b655b
19:12962830 MAST1 C>T	19	12962830	12962830	C	T	MAST1	c.857C>T	NM_014975.3	NP_055790.1:p.(Ala286Val)	NC_000019.9:g.12962830C>T	VUS	1 lab	52d6226ca3
2:37267551 HEATR5B C>T	2	37267551	37267551	C	T	HEATR5B	c.2967G>A	NM_019024.3	NP_061897.1:p.(Pro989=)	NC_000002.11:g.37267551C>T	(Likely) benign	1 lab	52db98efc0
2:179425049 TTN G>T	2	179425049	179425049	G	T	TTN	c.85810C>A	NM_001267550.2	NP_001254479.2:p.(Pro28604Thr)	NC_000002.11:g.179425049G>T	VUS	1 lab	52e45f169d
2:179459221 TTN C>G	2	179459221	179459221	C	G	TTN	c.58000G>C	NM_001267550.2	NP_001254479.2:p.(Val19334Leu)	NC_000002.11:g.179459221C>G	VUS	1 lab	52ea480423
6:56457014 DST G>A	6	56457014	56457014	G	A	DST	c.6512C>T	NM_001144769.5	NP_001138241.1:p.(Pro2171Leu)	NC_000006.11:g.56457014G>A	VUS	1 lab	52f4b9ea8a
X:41333028 NYX G>A	X	41333028	41333028	G	A	NYX	c.322G>A	NM_022567.2	NP_072089.1:p.(Gly108Ser)	NC_000023.10:g.41333028G>A	VUS	1 lab	52f84d3953
X:47424734 ARAF C>A	X	47424734	47424734	C	A	ARAF	c.542C>A	NM_001654.5	NP_001645.1:p.(Thr181Asn)	NC_000023.10:g.47424734C>A	(Likely) benign	1 lab	53010b7eda
16:48230194 ABCC11 C>A	16	48230194	48230194	C	A	ABCC11	c.2353G>T	NM_032583.4	NP_115972.2:p.(Glu785Ter)	NC_000016.9:g.48230194C>A	VUS	1 lab	53017ef8bd
2:84864352 DNAH6 G>A	2	84864352	84864352	G	A	DNAH6	c.4672G>A	NM_001370.2	NP_001361.1:p.(Glu1558Lys)	NC_000002.11:g.84864352G>A	VUS	1 lab	5301bc5c23
8:22864308 RHOBTB2 C>G	8	22864308	22864308	C	G	RHOBTB2	c.616C>G	NM_001160036.2	NP_001153508.1:p.(Pro206Ala)	NC_000008.10:g.22864308C>G	VUS	1 lab	530a825ae5
4:995333 IDUA G>C	4	995333	995333	G	C	IDUA	c.571G>C	NM_000203.5	NP_000194.2:p.(Val191Leu)	NC_000004.11:g.995333G>C	VUS	1 lab	53162943c4
16:89167234 ACSF3 C>T	16	89167234	89167234	C	T	ACSF3	c.145C>T	NM_174917.5	NP_777577.2:p.(Arg49Cys)	NC_000016.9:g.89167234C>T	VUS	1 lab	57f03c6a6f
15:40293234 EIF2AK4 C>T	15	40293234	40293234	C	T	EIF2AK4	c.2968C>T	NM_001013703.4	NP_001013725.2:p.(Pro990Ser)	NC_000015.9:g.40293234C>T	VUS	1 lab	53196edb1e
6:133777764 EYA4 G>A	6	133777764	133777764	G	A	EYA4	c.348G>A	NM_004100.5	NP_004091.3:p.(Ala116=)	NC_000006.11:g.133777764G>A	(Likely) benign	1 lab	53203e4830
16:23637720 PALB2 T>G	16	23637720	23637720	T	G	PALB2	c.2587-2A>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23637720T>G	VUS	1 lab	53232f3468
1:152281017 FLG T>A	1	152281017	152281017	T	A	FLG	c.6345A>T	NM_002016.2	NP_002007.1:p.(Gln2115His)	NC_000001.10:g.152281017T>A	VUS	1 lab	5324ef5368
X:2692765 XG A>G	X	2692765	2692765	A	G	XG	c.112A>G	NM_001141919.2	NP_001135391.1:p.(Lys38Glu)	NC_000023.10:g.2692765A>G	VUS	1 lab	53268baddf
16:89623395 SPG7 A>C	16	89623395	89623395	A	C	SPG7	c.2282A>C	NM_003119.4	NP_003110.1:p.(Gln761Pro)	NC_000016.9:g.89623395A>C	VUS	1 lab	5327589184
15:38643551 SPRED1 A>G	15	38643551	38643551	A	G	SPRED1	c.1021A>G	NM_152594.3	NP_689807.1:p.(Arg341Gly)	NC_000015.9:g.38643551A>G	VUS	1 lab	53286125a0
2:230654396 TRIP12 C>T	2	230654396	230654396	C	T	TRIP12	c.4545G>A	NM_001284214.2	NP_001271143.1:p.(Pro1515=)	NC_000002.11:g.230654396C>T	(Likely) benign	1 lab	53306fe6bc
X:50378443 SHROOM4 C>A	X	50378443	50378443	C	A	SHROOM4	c.630G>T	NM_020717.4	NP_065768.2:p.(Glu210Asp)	NC_000023.10:g.50378443C>A	VUS	1 lab	533229a978
19:36218650 KMT2B G>A	19	36218650	36218650	G	A	KMT2B	c.4354G>A	NM_014727.3	NP_055542.1:p.(Val1452Met)	NC_000019.9:g.36218650G>A	VUS	1 lab	534180e871
19:55667676 TNNI3 G>C	19	55667676	55667676	G	C	TNNI3	c.175C>G	NM_000363.5	NP_000354.4:p.(Gln59Glu)	NC_000019.9:g.55667676G>C	VUS	1 lab	5346990a2e
4:158224847 GRIA2 G>A	4	158224847	158224847	G	A	GRIA2	c.373G>A	NM_001083619.3	NP_001077088.2:p.(Val125Ile)	NC_000004.11:g.158224847G>A	VUS	1 lab	534a8c5053
15:48719964 FBN1 C>A	15	48719964	48719964	C	A	FBN1	c.7004G>T	NM_000138.5	NP_000129.3:p.(Arg2335Leu)	NC_000015.9:g.48719964C>A	VUS	1 lab	534ba45714
19:16191763 TPM4 A>G	19	16191763	16191763	A	G	TPM4	c.1A>G	NM_001367838.1	NP_001354767.1:p.(Met1?)	NC_000019.9:g.16191763A>G	VUS	1 lab	5b741c0d96
5:127681068 FBN2 AGTAAGAACATCCCCTCG>A	5	127681068	127681087	AGTAAGAACATCCCCTCG	A	FBN2	c.3181_3197del	NM_001999.4	NP_001990.2:p.(Arg1061TrpfsTer10)	NC_000005.9:g.127681071_127681087del	(Likely) pathogenic	1 lab	5351a9d007
2:179646936 TTN T>C	2	179646936	179646936	T	C	TTN	c.3380+3A>G	NM_001256850.1	NP_001243779.1:p.?	NC_000002.11:g.179646936T>C	VUS	1 lab	5352e9a196
2:166897983 SCN1A G>C	2	166897983	166897983	G	C	SCN1A	c.2177-4C>G	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897983G>C	(Likely) benign	1 lab	5354017ad5
9:123156869 CDK5RAP2 A>C	9	123156869	123156869	A	C	CDK5RAP2	c.5499T>G	NM_018249.6	NP_060719.4:p.(Phe1833Leu)	NC_000009.11:g.123156869A>C	VUS	1 lab	5356085bf7
11:118529044 TREH C>CG	11	118529044	118529045	C	CG	TREH	c.1705_1707=	NM_007180.3	NP_009111.2:p.(Ala569=)	NC_000011.9:g.118529044_118529045insG	(Likely) benign	1 lab	5358fab0cd
2:105472897 POU3F3 C>T	2	105472897	105472897	C	T	POU3F3	c.929C>T	NM_006236.3	NP_006227.1:p.(Pro310Leu)	NC_000002.11:g.105472897C>T	VUS	1 lab	535d7dadf0
4:80905061 ANTXR2 G>A	4	80905061	80905061	G	A	ANTXR2	c.1150C>T	NM_058172.6	NP_477520.2:p.(Arg384Ter)	NC_000004.11:g.80905061G>A	(Likely) pathogenic	1 lab	535eea693d
13:20763521 GJB2 T>C	13	20763521	20763521	T	C	GJB2	c.200A>G	NM_004004.6	NP_003995.2:p.(His67Arg)	NC_000013.10:g.20763521T>C	VUS	1 lab	535f1dafdb
12:7046382 ATN1 C>G	12	7046382	7046382	C	G	ATN1	c.1952C>G	NM_001007026.2	NP_001007027.1:p.(Thr651Arg)	NC_000012.11:g.7046382C>G	VUS	1 lab	5362f9d2fd
7:1510817 INTS1 C>T	7	1510817	1510817	C	T	INTS1	c.6299G>A	NM_001080453.3	NP_001073922.2:p.(Arg2100His)	NC_000007.13:g.1510817C>T	VUS	1 lab	536349b3e1
5:55237352 IL6ST G>A	5	55237352	55237352	G	A	IL6ST	c.2315C>T	NM_002184.4	NP_002175.2:p.(Pro772Leu)	NC_000005.9:g.55237352G>A	VUS	1 lab	536f8c0399
1:236902782 ACTN2 C>T	1	236902782	236902782	C	T	ACTN2	c.1057C>T	NM_001103.4	NP_001094.1:p.(Arg353Trp)	NC_000001.10:g.236902782C>T	VUS	1 lab	5373de1b40
15:100591937 ADAMTS17 C>T	15	100591937	100591937	C	T	ADAMTS17	c.2296-1G>A	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100591937C>T	(Likely) pathogenic	1 lab	5375e56871
11:119535888 NECTIN1 C>T	11	119535888	119535888	C	T	NECTIN1	c.1123G>A	NM_002855.5	NP_002846.3:p.(Val375Met)	NC_000011.9:g.119535888C>T	VUS	1 lab	53768095d9
9:109691591 ZNF462 G>A	9	109691591	109691591	G	A	ZNF462	c.5398G>A	NM_021224.6	NP_067047.4:p.(Ala1800Thr)	NC_000009.11:g.109691591G>A	VUS	1 lab	537a69c0f1
6:79713564 PHIP T>A	6	79713564	79713564	T	A	PHIP	c.1536A>T	NM_017934.7	NP_060404.4:p.(Gln512His)	NC_000006.11:g.79713564T>A	VUS	1 lab	53917603cc
10:94392426 KIF11 C>CT	10	94392426	94392427	C	CT	KIF11	c.1679dup	NM_004523.4	NP_004514.2:p.(Glu561ArgfsTer4)	NC_000010.10:g.94392427dup	(Likely) pathogenic	1 lab	5393462529
5:151235934 GLRA1 T>C	5	151235934	151235934	T	C	GLRA1	c.487A>G	NM_000171.4	NP_000162.2:p.(Thr163Ala)	NC_000005.9:g.151235934T>C	VUS	1 lab	53bec361d5
14:55312514 GCH1 CAGGCCGCA>C	14	55312514	55312526	CAGGCCGCA	C	GCH1	c.590_597del	NM_000161.3	NP_000152.1:p.(Leu197CysfsTer8)	NC_000014.8:g.55312519_55312526del	(Likely) pathogenic	1 lab	53a0e0f283
1:981475 AGRN G>A	1	981475	981475	G	A	AGRN				NC_000001.10:g.981475G>A	(Likely) benign	1 lab	b9a04eaaa8
X:70352617 MED12 CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT>C	X	70352617	70352679	CCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTT	C	MED12	c.4416-50_4416-16del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352645_70352679del	(Likely) benign	1 lab	53a2e537d6
9:98229567 PTCH1 GTATT>G	9	98229567	98229572	GTATT	G	PTCH1	c.2387_2390del	NM_000264.5	NP_000255.2:p.(Lys796ThrfsTer9)	NC_000009.11:g.98229569_98229572del	(Likely) pathogenic	1 lab	53a6e5d692
18:19429218 MIB1 TG>T	18	19429218	19429219	TG	T	MIB1	c.2456del	NM_020774.4	NP_065825.1:p.(Cys819LeufsTer7)	NC_000018.9:g.19429219del	(Likely) pathogenic	1 lab	53b53197ec
17:59761129 BRIP1 A>ATTCT	17	59761129	59761130	A	ATTCT	BRIP1	c.3277_3278insAGAA	NM_032043.3	NP_114432.2:p.(Leu1093GlnfsTer5)	NC_000017.10:g.59761129_59761130insTTCT	VUS	1 lab	53b8afede8
4:23833266 PPARGC1A C>G	4	23833266	23833266	C	G	PPARGC1A	c.343G>C	NM_013261.5	NP_037393.1:p.(Gly115Arg)	NC_000004.11:g.23833266C>G	VUS	1 lab	53ba59b7f6
7:98573821 TRRAP C>T	7	98573821	98573821	C	T	TRRAP	c.7814C>T	NM_003496.4	NP_003487.1:p.(Thr2605Met)	NC_000007.13:g.98573821C>T	VUS	1 lab	53bbff5b8a
15:55759334 DNAAF4 AT>A	15	55759334	55759341	AT	A	DNAAF4	c.430del	NM_130810.4	NP_570722.2:p.(Ile144Ter)	NC_000015.9:g.55759341del	(Likely) pathogenic	1 lab	53c24c55d6
4:9998493 SLC2A9 A>G	4	9998493	9998493	A	G	SLC2A9	c.235T>C	NM_001001290.2	NP_001001290.1:p.(Leu79=)	NC_000004.11:g.9998493A>G	(Likely) benign	1 lab	53c2ef82c8
2:216272900 FN1 T>G	2	216272900	216272900	T	G	FN1	c.2449A>C	NM_212482.4	NP_997647.2:p.(Thr817Pro)	NC_000002.11:g.216272900T>G	(Likely) benign	1 lab	53c48a9daa
3:47045815 NBEAL2 C>T	3	47045815	47045815	C	T	NBEAL2	c.6130C>T	NM_015175.3	NP_055990.1:p.(Pro2044Ser)	NC_000003.11:g.47045815C>T	VUS	1 lab	53c5db6bcc
8:22865037 RHOBTB2 C>T	8	22865037	22865037	C	T	RHOBTB2	c.1345C>T	NM_001160036.2	NP_001153508.1:p.(Arg449Trp)	NC_000008.10:g.22865037C>T	VUS	1 lab	53c852a684
2:230634044 TRIP12 G>GT	2	230634044	230634045	G	GT	TRIP12	c.5584-4dup	NM_004238.3	NP_004229.1:p.?	NC_000002.11:g.230634045dup	(Likely) benign	1 lab	53cf97c0f9
1:43916092 SZT2 C>T	1	43916092	43916092	C	T	SZT2	c.10069C>T	NM_015284.4	NP_056099.3:p.(His3357Tyr)	NC_000001.10:g.43916092C>T	VUS	1 lab	53d20e013a
7:152132762 KMT2C C>G	7	152132762	152132762	C	G	KMT2C	c.110G>C	NM_170606.3	NP_733751.2:p.(Arg37Pro)	NC_000007.13:g.152132762C>G	VUS	1 lab	53d322f7bb
6:32632714 HLA-DQB1 G>C	6	32632714	32632714	G	C	HLA-DQB1	c.240C>G	NM_001243961.2	NP_001230890.1:p.(Arg80=)	NC_000006.11:g.32632714G>C	(Likely) benign	1 lab	53d374f9e3
3:38051227 PLCD1 C>T	3	38051227	38051227	C	T	PLCD1	c.1426G>A	NM_001130964.2	NP_001124436.1:p.(Glu476Lys)	NC_000003.11:g.38051227C>T	VUS	1 lab	53d44cd322
4:650046 PDE6B A>G	4	650046	650046	A	G	PDE6B	c.1072A>G	NM_000283.4	NP_000274.3:p.(Met358Val)	NC_000004.11:g.650046A>G	VUS	1 lab	53d5102bcf
22:41573132 EP300 G>A	22	41573132	41573132	G	A	EP300	c.5417G>A	NM_001429.4	NP_001420.2:p.(Cys1806Tyr)	NC_000022.10:g.41573132G>A	(Likely) pathogenic	1 lab	53d58da94f
17:39742856 KRT14 G>A	17	39742856	39742856	G	A	KRT14	c.231C>T	NM_000526.5	NP_000517.3:p.(Ser77=)	NC_000017.10:g.39742856G>A	(Likely) benign	1 lab	53d669e806
5:14462870 TRIO C>T	5	14462870	14462870	C	T	TRIO	c.5503C>T	NM_007118.4	NP_009049.2:p.(Arg1835Trp)	NC_000005.9:g.14462870C>T	VUS	1 lab	53da05f765
18:32455195 DTNA C>T	18	32455195	32455195	C	T	DTNA	c.1504-8C>T	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32455195C>T	(Likely) benign	1 lab	53df396162
5:176562448 NSD1 C>G	5	176562448	176562448	C	G	NSD1	c.344C>G	NM_022455.5	NP_071900.2:p.(Ser115Cys)	NC_000005.9:g.176562448C>G	VUS	1 lab	53e2e504f5
6:32632832 HLA-DQB1 A>T	6	32632832	32632832	A	T	HLA-DQB1	c.122T>A	NM_001243961.2	NP_001230890.1:p.(Phe41Tyr)	NC_000006.11:g.32632832A>T	(Likely) benign	1 lab	53e4949d5a
6:39876860 MOCS1 T>C	6	39876860	39876860	T	C	MOCS1	c.1121A>G	NM_005943.6	NP_005934.2:p.(Gln374Arg)	NC_000006.11:g.39876860T>C	(Likely) benign	1 lab	53e57dc278
2:47641562 MSH2 A>G	2	47641562	47641562	A	G	MSH2	c.942+5A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641562A>G	(Likely) benign	1 lab	53e61332e4
6:157510871 ARID1B G>A	6	157510871	157510871	G	A	ARID1B	c.3895G>A	NM_001371656.1	NP_001358585.1:p.(Ala1299Thr)	NC_000006.11:g.157510871G>A	VUS	1 lab	53f5b12aa8
20:60909086 LAMA5 C>T	20	60909086	60909086	C	T	LAMA5	c.2749G>A	NM_005560.6	NP_005551.3:p.(Val917Met)	NC_000020.10:g.60909086C>T	VUS	1 lab	53fb7dc1d6
18:21153495 NPC1 G>A	18	21153495	21153495	G	A	NPC1	c.101C>T	NM_000271.5	NP_000262.2:p.(Ala34Val)	NC_000018.9:g.21153495G>A	VUS	1 lab	53fc077786
3:81586062 GBE1 C>T	3	81586062	81586062	C	T	GBE1	c.1803G>A	NM_000158.4	NP_000149.4:p.(Gln601=)	NC_000003.11:g.81586062C>T	VUS	1 lab	5402ed45f7
17:7099828 DLG4 G>A	17	7099828	7099828	G	A	DLG4	c.1279C>T	NM_001365.4	NP_001356.1:p.(Gln427Ter)	NC_000017.10:g.7099828G>A	(Likely) pathogenic	1 lab	5405fd8f01
X:31676188 DMD C>T	X	31676188	31676188	C	T	DMD	c.7946G>A	NM_004006.3	NP_003997.2:p.(Arg2649Gln)	NC_000023.10:g.31676188C>T	VUS	1 lab	5406828184
7:69583231 AUTS2 TAAA>T	7	69583231	69583253	TAAA	T	AUTS2	c.624+32_624+34del	NM_001127231.3	NP_001120703.1:p.?	NC_000007.13:g.69583251_69583253del	(Likely) benign	1 lab	5406b5a80d
19:57742501 AURKC CAGGATTGGAA>C	19	57742501	57742511	CAGGATTGGAA	C	AURKC	c.-115_-106del	NM_001015878.2	NP_001015878.1:p.?	NC_000019.9:g.57742502_57742511del	(Likely) benign	1 lab	540bd51d90
4:148589677 PRMT9 C>T	4	148589677	148589677	C	T	PRMT9	c.953+13G>A	NM_138364.4	NP_612373.2:p.?	NC_000004.11:g.148589677C>T	(Likely) benign	1 lab	541ceddcec
9:134034870 NUP214 A>G	9	134034870	134034870	A	G	NUP214	c.2537A>G	NM_005085.4	NP_005076.3:p.(Gln846Arg)	NC_000009.11:g.134034870A>G	VUS	1 lab	541d2d0e21
9:32487627 RIGI A>G	9	32487627	32487627	A	G	RIGI	c.1217T>C	NM_014314.4	NP_055129.2:p.(Ile406Thr)	NC_000009.11:g.32487627A>G	(Likely) benign	1 lab	5423f71da1
12:133219820 POLE A>G	12	133219820	133219820	A	G	POLE	c.4541T>C	NM_006231.4	NP_006222.2:p.(Val1514Ala)	NC_000012.11:g.133219820A>G	VUS	1 lab	542a2764b1
X:63411522 AMER1 G>A	X	63411522	63411522	G	A	AMER1	c.1645C>T	NM_152424.4	NP_689637.3:p.(Arg549Trp)	NC_000023.10:g.63411522G>A	VUS	1 lab	542bc6f5bf
12:52845574 KRT6B C>T	12	52845574	52845574	C	T	KRT6B	c.289G>A	NM_005555.4	NP_005546.2:p.(Gly97Arg)	NC_000012.11:g.52845574C>T	(Likely) benign	1 lab	542d4cc00b
1:156106082 LMNA G>C	1	156106082	156106082	G	C	LMNA	c.1235G>C	NM_170707.4	NP_733821.1:p.(Gly412Ala)	NC_000001.10:g.156106082G>C	VUS	1 lab	543283767b
7:83023613 SEMA3E C>T	7	83023613	83023613	C	T	SEMA3E	c.1500G>A	NM_012431.3	NP_036563.1:p.(Arg500=)	NC_000007.13:g.83023613C>T	(Likely) benign	1 lab	543a333e43
12:133235972 POLE C>T	12	133235972	133235972	C	T	POLE	c.3184G>A	NM_006231.4	NP_006222.2:p.(Glu1062Lys)	NC_000012.11:g.133235972C>T	VUS	1 lab	5440a82856
7:104753649 KMT2E G>A	7	104753649	104753649	G	A	KMT2E	c.5446G>A	NM_182931.3	NP_891847.1:p.(Gly1816Ser)	NC_000007.13:g.104753649G>A	VUS	1 lab	5440c6834c
15:41275164 INO80 C>T	15	41275164	41275164	C	T	INO80	c.4349G>A	NM_017553.3	NP_060023.1:p.(Arg1450Gln)	NC_000015.9:g.41275164C>T	VUS	1 lab	54431e3625
18:19761523 GATA6 ACATGAAACTC>A	18	19761523	19761537	ACATGAAACTC	A	GATA6	c.1417_1426del	NM_005257.6	NP_005248.2:p.(Lys473GlyfsTer8)	NC_000018.9:g.19761528_19761537del	(Likely) pathogenic	1 lab	5443f304e6
4:74313169 AFP T>C	4	74313169	74313169	T	C	AFP	c.844-10T>C	NM_001134.3	NP_001125.1:p.?	NC_000004.11:g.74313169T>C	(Likely) benign	1 lab	54451a1347
9:441328 DOCK8 A>C	9	441328	441328	A	C	DOCK8	c.5266A>C	NM_203447.4	NP_982272.2:p.(Ile1756Leu)	NC_000009.11:g.441328A>C	(Likely) benign	1 lab	544bb397fb
19:6502273 TUBB4A G>A	19	6502273	6502273	G	A	TUBB4A	c.-50C>T	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6502273G>A	VUS	1 lab	544bbfdb8d
13:32893364 BRCA2 A>T	13	32893364	32893364	A	T	BRCA2	c.218A>T	NM_000059.4	NP_000050.3:p.(Gln73Leu)	NC_000013.10:g.32893364A>T	(Likely) pathogenic	1 lab	544ed7ad41
22:28193629 MN1 C>T	22	28193629	28193629	C	T	MN1	c.2903G>A	NM_002430.3	NP_002421.3:p.(Ser968Asn)	NC_000022.10:g.28193629C>T	VUS	1 lab	d9e5969f9e
2:233349573 ECEL1 G>A	2	233349573	233349573	G	A	ECEL1	c.997C>T	NM_004826.4	NP_004817.2:p.(Arg333Ter)	NC_000002.11:g.233349573G>A	(Likely) pathogenic	1 lab	54544f0491
2:219299249 VIL1 G>T	2	219299249	219299249	G	T	VIL1	c.1501G>T	NM_007127.3	NP_009058.2:p.(Gly501Ter)	NC_000002.11:g.219299249G>T	VUS	1 lab	5457d2f505
8:2077182 MYOM2 G>C	8	2077182	2077182	G	C	MYOM2	c.3762G>C	NM_003970.4	NP_003961.3:p.(Lys1254Asn)	NC_000008.10:g.2077182G>C	VUS	1 lab	5457d5e3f1
6:33138159 COL11A2 G>A	6	33138159	33138159	G	A	COL11A2	c.3529-3C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33138159G>A	(Likely) benign	1 lab	5458560be7
12:7052979 RNU7-1 C>T	12	7052979	7052979	C	T	RNU7-1	n.1C>T	NR_023317.1		NC_000012.11:g.7052979C>T	VUS	1 lab	545d1de238
8:55371654 SOX17 G>C	8	55371654	55371654	G	C	SOX17	c.344G>C	NM_022454.4	NP_071899.1:p.(Arg115Pro)	NC_000008.10:g.55371654G>C	VUS	1 lab	545fdf676a
3:48604420 COL7A1 C>T	3	48604420	48604420	C	T	COL7A1	c.8146G>A	NM_000094.4	NP_000085.1:p.(Gly2716Arg)	NC_000003.11:g.48604420C>T	(Likely) pathogenic	1 lab	54657469b4
16:14041958 ERCC4 T>C	16	14041958	14041958	T	C	ERCC4	c.2505T>C	NM_005236.3	NP_005227.1:p.(Ser835=)	NC_000016.9:g.14041958T>C	(Likely) benign	1 lab	5470a12ab5
5:133536192 PPP2CA A>G	5	133536192	133536192	A	G	PPP2CA	c.577-5T>C	NM_002715.4	NP_002706.1:p.?	NC_000005.9:g.133536192A>G	(Likely) benign	1 lab	54717a4153
11:108124684 ATM C>T	11	108124684	108124684	C	T	ATM	c.2042C>T	NM_000051.4	NP_000042.3:p.(Ser681Phe)	NC_000011.9:g.108124684C>T	VUS	1 lab	54727b8a91
8:145106938 OPLAH GCC>G	8	145106938	145106944	GCC	G	OPLAH	c.3499_3501=	NM_017570.5	NP_060040.1:p.(Gly1167=)	NC_000008.10:g.145106943_145106944del	(Likely) benign	1 lab	54756e7487
X:46472805 SLC9A7 G>T	X	46472805	46472805	G	T	SLC9A7	c.1845C>A	NM_032591.3	NP_115980.1:p.(His615Gln)	NC_000023.10:g.46472805G>T	VUS	1 lab	5475910e31
19:54308554 NLRP12 C>T	19	54308554	54308554	C	T	NLRP12	c.2397G>A	NM_001277126.2	NP_001264055.1:p.(Gln799=)	NC_000019.9:g.54308554C>T	(Likely) benign	1 lab	547ac61b32
16:69354121 VPS4A G>T	16	69354121	69354121	G	T	VPS4A	c.698G>T	NM_013245.3	NP_037377.1:p.(Cys233Phe)	NC_000016.9:g.69354121G>T	VUS	1 lab	547c9ff45c
8:144990878 PLEC C>T	8	144990878	144990878	C	T	PLEC	c.13192G>A	NM_000445.5	NP_000436.2:p.(Ala4398Thr)	NC_000008.10:g.144990878C>T	VUS	1 lab	547e00bc49
3:47163335 SETD2 C>T	3	47163335	47163335	C	T	SETD2	c.2791G>A	NM_014159.7	NP_054878.5:p.(Glu931Lys)	NC_000003.11:g.47163335C>T	(Likely) benign	1 lab	5482185b7b
12:49421059 KMT2D T>C	12	49421059	49421059	T	C	KMT2D	c.14690A>G	NM_003482.4	NP_003473.3:p.(Asn4897Ser)	NC_000012.11:g.49421059T>C	VUS	1 lab	548491c354
2:169828550 ABCB11 T>C	2	169828550	169828550	T	C	ABCB11	c.1445A>G	NM_003742.4	NP_003733.2:p.(Asp482Gly)	NC_000002.11:g.169828550T>C	(Likely) pathogenic	1 lab	548e871929
3:71021270 FOXP1 C>T	3	71021270	71021270	C	T	FOXP1	c.1592G>A	NM_001244810.2	NP_001231739.1:p.(Gly531Glu)	NC_000003.11:g.71021270C>T	VUS	1 lab	5494c4cf28
8:30954322 WRN G>A	8	30954322	30954322	G	A	WRN	c.1937G>A	NM_000553.6	NP_000544.2:p.(Cys646Tyr)	NC_000008.10:g.30954322G>A	VUS	1 lab	549abe8234
16:775561 CCDC78 C>T	16	775561	775561	C	T	CCDC78	c.287G>A	NM_001031737.3	NP_001026907.2:p.(Arg96Gln)	NC_000016.9:g.775561C>T	(Likely) benign	1 lab	549d8eadd1
9:2039776 SMARCA2 A>ACAGCAGCAGCAGCAGCAGCAGCAGCAG	9	2039776	2039817	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	SMARCA2	c.681_707dup	NM_003070.5	NP_003061.3:p.(Gln230_Gln238dup)	NC_000009.11:g.2039791_2039817dup	VUS	1 lab	54a5bdcfc3
9:34649459 GALT C>T	9	34649459	34649459	C	T	GALT	c.957C>T	NM_000155.4	NP_000146.2:p.(His319=)	NC_000009.11:g.34649459C>T	VUS	1 lab	54a6b0d9b7
12:4479729 FGF23 C>T	12	4479729	4479729	C	T	FGF23	c.536G>A	NM_020638.3	NP_065689.1:p.(Arg179Gln)	NC_000012.11:g.4479729C>T	(Likely) pathogenic	1 lab	54a7761f28
X:153227770 HCFC1 G>A	X	153227770	153227770	G	A	HCFC1	c.713-13C>T	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153227770G>A	(Likely) benign	1 lab	54a949ed1a
1:160104491 ATP1A2 T>A	1	160104491	160104491	T	A	ATP1A2				NC_000001.10:g.160104491T>A	(Likely) benign	1 lab	6bc3ab9fa9
1:154574600 ADAR T>C	1	154574600	154574600	T	C	ADAR	c.518A>G	NM_001111.5	NP_001102.3:p.(Asn173Ser)	NC_000001.10:g.154574600T>C	(Likely) benign	1 lab	54aa087dfc
18:77211081 NFATC1 G>A	18	77211081	77211081	G	A	NFATC1	c.1717G>A	NM_006162.5	NP_006153.2:p.(Gly573Ser)	NC_000018.9:g.77211081G>A	VUS	1 lab	54aaebfc29
13:32937606 BRCA2 C>T	13	32937606	32937606	C	T	BRCA2	c.8267C>T	NM_000059.4	NP_000050.3:p.(Ala2756Val)	NC_000013.10:g.32937606C>T	(Likely) benign	1 lab	54b0647b84
5:231092 SDHA A>C	5	231092	231092	A	C	SDHA	c.872A>C	NM_004168.4	NP_004159.2:p.(Glu291Ala)	NC_000005.9:g.231092A>C	VUS	1 lab	54b1907aaf
16:89833561 FANCA G>T	16	89833561	89833561	G	T	FANCA	c.2589C>A	NM_000135.4	NP_000126.2:p.(Gly863=)	NC_000016.9:g.89833561G>T	(Likely) benign	1 lab	54b58d2a8d
14:23871968 MYH6 C>T	14	23871968	23871968	C	T	MYH6	c.940G>A	NM_002471.4	NP_002462.2:p.(Val314Met)	NC_000014.8:g.23871968C>T	(Likely) benign	1 lab	54b592a93b
21:44838933 SIK1 A>C	21	44838933	44838933	A	C	SIK1	c.1430T>G	NM_173354.5	NP_775490.2:p.(Val477Gly)	NC_000021.8:g.44838933A>C	VUS	1 lab	54bab03ae8
5:14420027 TRIO A>C	5	14420027	14420027	A	C	TRIO	c.5100A>C	NM_007118.4	NP_009049.2:p.(Thr1700=)	NC_000005.9:g.14420027A>C	(Likely) benign	1 lab	54bd2bc5d1
9:35093020 PIGO T>C	9	35093020	35093020	T	C	PIGO	c.1119+7A>G	NM_032634.4	NP_116023.2:p.?	NC_000009.11:g.35093020T>C	(Likely) benign	1 lab	54c39834e3
7:98487991 TRRAP C>T	7	98487991	98487991	C	T	TRRAP	c.184C>T	NM_001244580.2	NP_001231509.1:p.(Leu62=)	NC_000007.13:g.98487991C>T	(Likely) benign	1 lab	54d0b6b61a
5:112175961 APC T>C	5	112175961	112175961	T	C	APC	c.4670T>C	NM_000038.6	NP_000029.2:p.(Ile1557Thr)	NC_000005.9:g.112175961T>C	(Likely) benign	1 lab	54d0bab26c
18:12367073 AFG3L2 A>T	18	12367073	12367073	A	T	AFG3L2	c.443T>A	NM_006796.3	NP_006787.2:p.(Leu148His)	NC_000018.9:g.12367073A>T	VUS	1 lab	54d234c8d2
13:32900252 BRCA2 A>T	13	32900252	32900252	A	T	BRCA2	c.440A>T	NM_000059.4	NP_000050.3:p.(Gln147Leu)	NC_000013.10:g.32900252A>T	VUS	1 lab	54d45eebdc
20:23618395 CST3 T>C	20	23618395	23618395	T	C	CST3	c.105A>G	NM_000099.4	NP_000090.1:p.(Leu35=)	NC_000020.10:g.23618395T>C	(Likely) benign	1 lab	54ddeb7eaf
16:79632690 MAF C>G	16	79632690	79632690	C	G	MAF	c.1110G>C	NM_005360.5	NP_005351.2:p.(Glu370Asp)	NC_000016.9:g.79632690C>G	VUS	1 lab	54e00e15a8
9:4574002 SLC1A1 C>CA	9	4574002	4574003	C	CA	SLC1A1	c.864dup	NM_004170.6	NP_004161.4:p.(Val289SerfsTer57)	NC_000009.11:g.4574003dup	VUS	1 lab	54e41720a9
2:171715408 GAD1 G>A	2	171715408	171715408	G	A	GAD1	c.1611+5G>A	NM_000817.3	NP_000808.2:p.?	NC_000002.11:g.171715408G>A	(Likely) benign	1 lab	54e486e987
15:43038262 TTBK2 G>A	15	43038262	43038262	G	A	TTBK2	c.3466C>T	NM_173500.4	NP_775771.3:p.(Arg1156Ter)	NC_000015.9:g.43038262G>A	(Likely) pathogenic	1 lab	54e6ccfc8c
3:43732496 ABHD5 G>A	3	43732496	43732496	G	A	ABHD5	c.12G>A	NM_016006.6	NP_057090.2:p.(Glu4=)	NC_000003.11:g.43732496G>A	(Likely) benign	1 lab	54e723bb84
11:118343838 KMT2A C>T	11	118343838	118343838	C	T	KMT2A	c.1964C>T	NM_001197104.2	NP_001184033.1:p.(Pro655Leu)	NC_000011.9:g.118343838C>T	VUS	1 lab	54ec5d6c93
6:38838204 DNAH8 A>G	6	38838204	38838204	A	G	DNAH8	c.6856A>G	NM_001206927.2	NP_001193856.1:p.(Ser2286Gly)	NC_000006.11:g.38838204A>G	VUS	1 lab	54eec839d9
9:108366682 FKTN C>T	9	108366682	108366682	C	T	FKTN	c.160C>T	NM_001351502.2	NP_001338431.1:p.(His54Tyr)	NC_000009.11:g.108366682C>T	VUS	1 lab	54f431c6f4
7:72861616 BAZ1B ATCTTCTTCCTCCTCCTCC>A	7	72861616	72861657	ATCTTCTTCCTCCTCCTCC	A	BAZ1B	c.3804_3821del	NM_032408.4	NP_115784.1:p.(Glu1268_Glu1273del)	NC_000007.13:g.72861640_72861657del	(Likely) benign	1 lab	54f60d3108
11:65113830 DPF2 C>T	11	65113830	65113830	C	T	DPF2	c.1059C>T	NM_001330308.2	NP_001317237.1:p.(Asp353=)	NC_000011.9:g.65113830C>T	(Likely) benign	1 lab	54f9186023
6:33639047 ITPR3 C>T	6	33639047	33639047	C	T	ITPR3	c.2692C>T	NM_002224.4	NP_002215.2:p.(Pro898Ser)	NC_000006.11:g.33639047C>T	VUS	1 lab	5509abcadf
12:49420229 KMT2D G>A	12	49420229	49420229	G	A	KMT2D	c.15520C>T	NM_003482.4	NP_003473.3:p.(Arg5174Trp)	NC_000012.11:g.49420229G>A	VUS	1 lab	550bc5f7a4
22:29090076 CHEK2 C>T	22	29090076	29090076	C	T	CHEK2	c.1405G>A	NM_007194.4	NP_009125.1:p.(Val469Met)	NC_000022.10:g.29090076C>T	VUS	1 lab	550edbeeae
4:1902743 NSD2 C>G	4	1902743	1902743	C	G	NSD2	c.362C>G	NM_133334.2	NP_579889.1:p.(Ser121Cys)	NC_000004.11:g.1902743C>G	VUS	1 lab	550f4218a2
1:45295098 PTCH2 A>T	1	45295098	45295098	A	T	PTCH2	c.1191T>A	NM_001166292.2	NP_001159764.1:p.(Arg397=)	NC_000001.10:g.45295098A>T	(Likely) benign	1 lab	5512e568eb
X:21488940 CNKSR2 A>G	X	21488940	21488940	A	G	CNKSR2	c.561+15A>G	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21488940A>G	(Likely) benign	1 lab	5515164d74
3:196229971 RNF168 T>C	3	196229971	196229971	T	C	RNF168	c.74A>G	NM_152617.4	NP_689830.2:p.(Glu25Gly)	NC_000003.11:g.196229971T>C	VUS	1 lab	55195f40fb
2:27465166 CAD C>A	2	27465166	27465166	C	A	CAD	c.6097-4C>A	NM_004341.5	NP_004332.2:p.?	NC_000002.11:g.27465166C>A	(Likely) benign	1 lab	551e843720
X:119580286 LAMP2 CAGG>C	X	119580286	119580291	CAGG	C	LAMP2	c.742-7_742-5del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119580289_119580291del	(Likely) benign	1 lab	5524ed962f
6:111887706 TRAF3IP2 C>T	6	111887706	111887706	C	T	TRAF3IP2	c.1417G>A	NM_147686.4	NP_679211.2:p.(Ala473Thr)	NC_000006.11:g.111887706C>T	VUS	1 lab	5525962a31
7:128475394 FLNC G>A	7	128475394	128475394	G	A	FLNC	c.367G>A	NM_001458.5	NP_001449.3:p.(Val123Met)	NC_000007.13:g.128475394G>A	VUS	1 lab	5526c5c05d
11:70803619 SHANK2 C>T	11	70803619	70803619	C	T	SHANK2	c.761G>A	NM_012309.5	NP_036441.2:p.(Gly254Asp)	NC_000011.9:g.70803619C>T	VUS	1 lab	552744df37
12:33031216 PKP2 C>T	12	33031216	33031216	C	T	PKP2	c.598G>A	NM_004572.4	NP_004563.2:p.(Val200Met)	NC_000012.11:g.33031216C>T	(Likely) benign	1 lab	552aa35517
2:167055747 SCN9A T>G	2	167055747	167055747	T	G	SCN9A	c.5369A>C	NM_002977.3	NP_002968.1:p.(Lys1790Thr)	NC_000002.11:g.167055747T>G	VUS	1 lab	552dc2559c
2:50758375 NRXN1 C>G	2	50758375	50758375	C	G	NRXN1	c.2457G>C	NM_001135659.3	NP_001129131.1:p.(Thr819=)	NC_000002.11:g.50758375C>G	(Likely) benign	1 lab	552fb4b1e4
17:39925339 JUP T>C	17	39925339	39925339	T	C	JUP	c.589A>G	NM_002230.4	NP_002221.1:p.(Ser197Gly)	NC_000017.10:g.39925339T>C	(Likely) benign	1 lab	55305362be
2:179468995 TTN C>T	2	179468995	179468995	C	T	TTN	c.46715G>A	NM_133378.4	NP_596869.4:p.(Arg15572Gln)	NC_000002.11:g.179468995C>T	VUS	1 lab	55314ef620
2:27535925 MPV17 C>T	2	27535925	27535925	C	T	MPV17	c.122G>A	NM_002437.5	NP_002428.1:p.(Arg41Gln)	NC_000002.11:g.27535925C>T	(Likely) pathogenic	1 lab	5535247b82
11:47354752 MYBPC3 T>G	11	47354752	47354752	T	G	MYBPC3	c.3323A>C	NM_000256.3	NP_000247.2:p.(Lys1108Thr)	NC_000011.9:g.47354752T>G	VUS	1 lab	553864f484
4:77091006 SCARB2 A>T	4	77091006	77091006	A	T	SCARB2	c.1113+14T>A	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77091006A>T	(Likely) benign	1 lab	553af9dc17
2:179611778 TTN A>C	2	179611778	179611778	A	C	TTN	c.15349T>G	NM_133379.5	NP_596870.2:p.(Tyr5117Asp)	NC_000002.11:g.179611778A>C	VUS	1 lab	553cc396db
2:152476274 NEB G>T	2	152476274	152476274	G	T	NEB	c.10563C>A	NM_001271208.2	NP_001258137.2:p.(Tyr3521Ter)	NC_000002.11:g.152476274G>T	(Likely) pathogenic	1 lab	553ed63850
8:143994321 CYP11B2 T>C	8	143994321	143994321	T	C	CYP11B2	c.1122-20A>G	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143994321T>C	(Likely) benign	1 lab	55402ba04b
3:120360509 HGD T>C	3	120360509	120360509	T	C	HGD	c.806A>G	NM_000187.4	NP_000178.2:p.(His269Arg)	NC_000003.11:g.120360509T>C	(Likely) pathogenic	1 lab	5549aa7c7b
18:77171285 NFATC1 A>G	18	77171285	77171285	A	G	NFATC1	c.1010A>G	NM_006162.5	NP_006153.2:p.(Lys337Arg)	NC_000018.9:g.77171285A>G	VUS	1 lab	554d0201be
10:112572061 RBM20 C>T	10	112572061	112572061	C	T	RBM20	c.1906C>T	NM_001134363.3	NP_001127835.2:p.(Arg636Cys)	NC_000010.10:g.112572061C>T	(Likely) pathogenic	1 lab	554e6c0f66
16:48258198 ABCC11 C>T	16	48258198	48258198	C	T	ABCC11	c.538G>A	NM_033151.4	NP_149163.2:p.(Gly180Arg)	NC_000016.9:g.48258198C>T	(Likely) benign	1 lab	5552a6e833
1:220363737 RAB3GAP2 G>A	1	220363737	220363737	G	A	RAB3GAP2	c.1613C>T	NM_012414.4	NP_036546.2:p.(Pro538Leu)	NC_000001.10:g.220363737G>A	VUS	1 lab	555441a019
7:101918610 CUX1 C>T	7	101918610	101918610	C	T	CUX1	c.1543C>T	NM_001913.5	NP_001904.2:p.(Arg515Trp)	NC_000007.13:g.101918610C>T	VUS	1 lab	5556d5e01b
X:107936002 COL4A5 G>A	X	107936002	107936002	G	A	COL4A5	c.4535G>A	NM_000495.5	NP_000486.1:p.(Arg1512His)	NC_000023.10:g.107936002G>A	VUS	1 lab	5556f0c461
1:45796900 MUTYH G>A	1	45796900	45796900	G	A	MUTYH	c.1430C>T	NM_001128425.2	NP_001121897.1:p.(Thr477Met)	NC_000001.10:g.45796900G>A	VUS	1 lab	5558f80d9b
6:111697629 REV3L CTCTT>C	6	111697629	111697634	CTCTT	C	REV3L	c.1691_1694del	NM_001286431.2	NP_001273360.1:p.(Lys564ArgfsTer70)	NC_000006.11:g.111697631_111697634del	VUS	1 lab	555e9ca546
2:179458294 TTN C>G	2	179458294	179458294	C	G	TTN	c.53809+1G>C	NM_001256850.1	NP_001243779.1:p.?	NC_000002.11:g.179458294C>G	(Likely) pathogenic	1 lab	555f472d05
10:75393649 MYOZ1 C>T	10	75393649	75393649	C	T	MYOZ1	c.668+9G>A	NM_021245.4	NP_067068.1:p.?	NC_000010.10:g.75393649C>T	(Likely) benign	1 lab	556327bf3f
4:56874517 CEP135 A>C	4	56874517	56874517	A	C	CEP135	c.2305A>C	NM_025009.5	NP_079285.2:p.(Ile769Leu)	NC_000004.11:g.56874517A>C	(Likely) benign	1 lab	5569b713b2
1:154557721 ADAR G>C	1	154557721	154557721	G	C	ADAR	c.2530C>G	NM_001193495.2	NP_001180424.1:p.(Leu844Val)	NC_000001.10:g.154557721G>C	VUS	1 lab	5570191e63
6:33411626 SYNGAP1 T>C	6	33411626	33411626	T	C	SYNGAP1	c.3297T>C	NM_006772.3	NP_006763.2:p.(Tyr1099=)	NC_000006.11:g.33411626T>C	(Likely) benign	1 lab	55704ac9cd
2:37475273 NDUFAF7 T>C	2	37475273	37475273	T	C	NDUFAF7	c.1111-5T>C	NM_144736.5	NP_653337.1:p.?	NC_000002.11:g.37475273T>C	(Likely) benign	1 lab	557591abcd
X:70642954 TAF1 T>C	X	70642954	70642954	T	C	TAF1	c.4453-13T>C	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70642954T>C	(Likely) benign	1 lab	557b3fcd7d
12:8995794 A2ML1 C>T	12	8995794	8995794	C	T	A2ML1	c.1313C>T	NM_144670.6	NP_653271.3:p.(Ala438Val)	NC_000012.11:g.8995794C>T	VUS	1 lab	55a299741d
7:103363638 RELN T>C	7	103363638	103363638	T	C	RELN	c.754A>G	NM_005045.4	NP_005036.2:p.(Ile252Val)	NC_000007.13:g.103363638T>C	VUS	1 lab	558001380d
16:2220713 TRAF7 CGAG>C	16	2220713	2220728	CGAG	C	TRAF7	c.343_345del	NM_032271.3	NP_115647.2:p.(Glu115del)	NC_000016.9:g.2220726_2220728del	(Likely) benign	1 lab	55817025de
1:3329166 PRDM16 C>T	1	3329166	3329166	C	T	PRDM16	c.2405C>T	NM_022114.4	NP_071397.3:p.(Pro802Leu)	NC_000001.10:g.3329166C>T	VUS	1 lab	558844e393
5:14397238 TRIO T>C	5	14397238	14397238	T	C	TRIO	c.4398T>C	NM_007118.4	NP_009049.2:p.(Asp1466=)	NC_000005.9:g.14397238T>C	(Likely) benign	1 lab	558acecfea
22:40042779 CACNA1I G>A	22	40042779	40042779	G	A	CACNA1I	c.1355G>A	NM_021096.4	NP_066919.2:p.(Arg452His)	NC_000022.10:g.40042779G>A	(Likely) benign	1 lab	558bddcebf
12:52699548 KRT86 T>C	12	52699548	52699548	T	C	KRT86	c.1002T>C	NM_001320198.2	NP_001307127.1:p.(Ala334=)	NC_000012.11:g.52699548T>C	(Likely) benign	1 lab	5591a1f895
12:51135275 DIP2B T>C	12	51135275	51135275	T	C	DIP2B	c.4431T>C	NM_173602.3	NP_775873.2:p.(Ile1477=)	NC_000012.11:g.51135275T>C	(Likely) benign	1 lab	55974ed5cf
16:1968177 HS3ST6 G>T	16	1968177	1968177	G	T	HS3ST6	c.148C>A	NM_001009606.4	NP_001009606.3:p.(Arg50Ser)	NC_000016.9:g.1968177G>T	VUS	1 lab	559d146b8c
3:81695576 GBE1 C>A	3	81695576	81695576	C	A	GBE1	c.749G>T	NM_000158.4	NP_000149.4:p.(Gly250Val)	NC_000003.11:g.81695576C>A	(Likely) pathogenic	1 lab	55a03ea7cc
19:15349752 BRD4 C>T	19	15349752	15349752	C	T	BRD4	c.3822G>A	NM_058243.3	NP_490597.1:p.(Arg1274=)	NC_000019.9:g.15349752C>T	(Likely) benign	1 lab	55a4a36ab2
20:61986949 CHRNA4 T>C	20	61986949	61986949	T	C	CHRNA4	c.383+378A>G	NM_000744.7	NP_000735.1:p.?	NC_000020.10:g.61986949T>C	(Likely) benign	1 lab	55a70de6bb
10:69909854 MYPN C>T	10	69909854	69909854	C	T	MYPN	c.1303C>T	NM_032578.4	NP_115967.2:p.(Pro435Ser)	NC_000010.10:g.69909854C>T	VUS	1 lab	55a73d25f0
5:82499501 XRCC4 C>T	5	82499501	82499501	C	T	XRCC4	c.613C>T	NM_022406.5	NP_071801.1:p.(Arg205Ter)	NC_000005.9:g.82499501C>T	(Likely) pathogenic	1 lab	55a91d7f8e
10:43604597 RET C>T	10	43604597	43604597	C	T	RET	c.1182C>T	NM_020975.6	NP_066124.1:p.(Asn394=)	NC_000010.10:g.43604597C>T	(Likely) benign	1 lab	55ab065a86
5:112174760 APC G>C	5	112174760	112174760	G	C	APC				NC_000005.9:g.112174760G>C	VUS	1 lab	ea1217523a
2:44176729 LRPPRC T>C	2	44176729	44176729	T	C	LRPPRC	c.1735+12A>G	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44176729T>C	(Likely) benign	1 lab	55ace9ec68
13:23909115 SACS C>T	13	23909115	23909115	C	T	SACS	c.8900G>A	NM_014363.6	NP_055178.3:p.(Arg2967His)	NC_000013.10:g.23909115C>T	VUS	1 lab	55adfa99f8
X:73962794 NEXMIF C>T	X	73962794	73962794	C	T	NEXMIF	c.1598G>A	NM_001008537.3	NP_001008537.1:p.(Arg533His)	NC_000023.10:g.73962794C>T	VUS	1 lab	55b27dc32d
10:50724629 PGBD3 A>G	10	50724629	50724629	A	G	PGBD3	c.532T>C	NM_170753.3	NP_736609.2:p.(Ser178Pro)	NC_000010.10:g.50724629A>G	VUS	1 lab	55b96a008f
20:3209371 SLC4A11 G>A	20	3209371	3209371	G	A	SLC4A11	c.2322-18C>T	NM_001174090.2	NP_001167561.1:p.?	NC_000020.10:g.3209371G>A	(Likely) benign	1 lab	55bc87bd73
5:127670973 FBN2 C>T	5	127670973	127670973	C	T	FBN2	c.3862G>A	NM_001999.4	NP_001990.2:p.(Glu1288Lys)	NC_000005.9:g.127670973C>T	(Likely) benign	1 lab	55bcb8bace
X:70466325 ZMYM3 G>A	X	70466325	70466325	G	A	ZMYM3	c.2450C>T	NM_201599.3	NP_963893.1:p.(Thr817Ile)	NC_000023.10:g.70466325G>A	(Likely) benign	1 lab	55c0b9465f
7:117250609 CFTR G>T	7	117250609	117250609	G	T	CFTR	c.3025G>T	NM_000492.4	NP_000483.3:p.(Ala1009Ser)	NC_000007.13:g.117250609G>T	VUS	1 lab	55c2adc15e
2:179412918 TTN GA>G	2	179412918	179412919	GA	G	TTN	c.93434del	NM_001267550.2	NP_001254479.2:p.(Ile31145ThrfsTer8)	NC_000002.11:g.179412919del	(Likely) pathogenic	1 lab	55c4dd86e7
3:124153263 KALRN G>A	3	124153263	124153263	G	A	KALRN	c.2933G>A	NM_001024660.5	NP_001019831.2:p.(Arg978Gln)	NC_000003.11:g.124153263G>A	VUS	1 lab	55c670ba97
9:101867461 TGFBR1 C>T	9	101867461	101867461	C	T	TGFBR1	c.-27C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101867461C>T	VUS	1 lab	55c6df105e
11:61067639 DDB1 T>C	11	61067639	61067639	T	C	DDB1	c.3392A>G	NM_001923.5	NP_001914.3:p.(Lys1131Arg)	NC_000011.9:g.61067639T>C	VUS	1 lab	55c94a5d29
16:4933975 PPL G>T	16	4933975	4933975	G	T	PPL	c.4681C>A	NM_002705.5	NP_002696.4:p.(Leu1561Met)	NC_000016.9:g.4933975G>T	VUS	1 lab	5b969afd35
X:65819511 EDA2R C>A	X	65819511	65819511	C	A	EDA2R	c.709G>T	NM_021783.5	NP_068555.2:p.(Ala237Ser)	NC_000023.10:g.65819511C>A	VUS	1 lab	55d633400d
6:52109225 IL17F C>G	6	52109225	52109225	C	G	IL17F	c.3G>C	NM_052872.4	NP_443104.1:p.(Met1?)	NC_000006.11:g.52109225C>G	VUS	1 lab	55d804cd8c
1:196963210 CFHR5 A>G	1	196963210	196963210	A	G	CFHR5	c.431A>G	NM_030787.4	NP_110414.1:p.(Lys144Arg)	NC_000001.10:g.196963210A>G	(Likely) benign	1 lab	55d810525c
2:179631246 TTN G>C	2	179631246	179631246	G	C	TTN	c.9565C>G	NM_001267550.2	NP_001254479.2:p.(Gln3189Glu)	NC_000002.11:g.179631246G>C	VUS	1 lab	55dcb009d0
7:4841545 RADIL G>A	7	4841545	4841545	G	A	RADIL	c.2581C>T	NM_018059.5	NP_060529.4:p.(Arg861Trp)	NC_000007.13:g.4841545G>A	VUS	1 lab	55ee4d9da7
5:180046337 FLT4 G>C	5	180046337	180046337	G	C	FLT4	c.2677C>G	NM_182925.5	NP_891555.2:p.(Leu893Val)	NC_000005.9:g.180046337G>C	(Likely) pathogenic	1 lab	55f5576dd6
6:3078141 RIPK1 G>A	6	3078141	3078141	G	A	RIPK1	c.293G>A	NM_003804.6	NP_003795.2:p.(Gly98Asp)	NC_000006.11:g.3078141G>A	VUS	1 lab	55f9d9906d
2:48818878 STON1 G>C	2	48818878	48818878	G	C	STON1	c.2017G>C	NM_001198595.2	NP_001185524.1:p.(Val673Leu)	NC_000002.11:g.48818878G>C	VUS	1 lab	55fdf819c8
9:399148 DOCK8 A>C	9	399148	399148	A	C	DOCK8	c.3123A>C	NM_203447.4	NP_982272.2:p.(Glu1041Asp)	NC_000009.11:g.399148A>C	VUS	1 lab	5601369437
13:115067501 UPF3A G>T	13	115067501	115067501	G	T	UPF3A	c.1302+1G>T	NM_023011.4	NP_075387.1:p.?	NC_000013.10:g.115067501G>T	VUS	1 lab	56016d93bc
2:44209477 LRPPRC C>T	2	44209477	44209477	C	T	LRPPRC	c.246G>A	NM_133259.4	NP_573566.2:p.(Gln82=)	NC_000002.11:g.44209477C>T	(Likely) benign	1 lab	5604963dd7
4:1806564 FGFR3 C>T	4	1806564	1806564	C	T	FGFR3	c.1280C>T	NM_000142.5	NP_000133.1:p.(Ser427Phe)	NC_000004.11:g.1806564C>T	VUS	1 lab	5605a16d7c
19:49469145 FTL G>GCCCA	19	49469145	49469147	G	GCCCA	FTL	c.222_223insCCAC	NM_000146.4	NP_000137.2:p.(Gly75ProfsTer14)	NC_000019.9:g.49469146_49469147insCCAC	VUS	1 lab	5606015333
7:82585453 PCLO C>T	7	82585453	82585453	C	T	PCLO	c.4816G>A	NM_033026.6	NP_149015.2:p.(Gly1606Arg)	NC_000007.13:g.82585453C>T	VUS	1 lab	560a859bfd
2:8871674 KIDINS220 C>T	2	8871674	8871674	C	T	KIDINS220	c.4495G>A	NM_001348729.2	NP_001335658.1:p.(Glu1499Lys)	NC_000002.11:g.8871674C>T	VUS	1 lab	56148f1265
11:6415434 SMPD1 G>T	11	6415434	6415434	G	T	SMPD1	c.1493G>T	NM_000543.5	NP_000534.3:p.(Arg498Leu)	NC_000011.9:g.6415434G>T	(Likely) pathogenic	1 lab	56759abfa8
12:31256342 DDX11 G>A	12	31256342	31256342	G	A	DDX11	c.2536+13G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31256342G>A	(Likely) benign	1 lab	561986de4a
7:14025727 ETV1 C>T	7	14025727	14025727	C	T	ETV1	c.181+536G>A	NM_004956.5	NP_004947.2:p.?	NC_000007.13:g.14025727C>T	(Likely) benign	1 lab	561a6fb919
9:109690854 ZNF462 A>T	9	109690854	109690854	A	T	ZNF462	c.4661A>T	NM_021224.6	NP_067047.4:p.(Gln1554Leu)	NC_000009.11:g.109690854A>T	VUS	1 lab	56212e6766
2:179605125 TTN C>T	2	179605125	179605125	C	T	TTN	c.12835G>A	NM_001267550.2	NP_001254479.2:p.(Asp4279Asn)	NC_000002.11:g.179605125C>T	VUS	1 lab	562285a87f
2:163144807 IFIH1 G>T	2	163144807	163144807	G	T	IFIH1	c.933C>A	NM_022168.4	NP_071451.2:p.(Tyr311Ter)	NC_000002.11:g.163144807G>T	VUS	1 lab	562313015b
15:73614902 HCN4 GC>G	15	73614902	73614908	GC	G	HCN4	c.3531del	NM_005477.3	NP_005468.1:p.(Pro1179LeufsTer2)	NC_000015.9:g.73614908del	VUS	1 lab	562462e1cc
15:65370211 KBTBD13 T>C	15	65370211	65370211	T	C	KBTBD13	c.1058T>C	NM_001101362.3	NP_001094832.1:p.(Leu353Pro)	NC_000015.9:g.65370211T>C	VUS	1 lab	5633113624
7:154598776 DPP6 C>T	7	154598776	154598776	C	T	DPP6	c.1620C>T	NM_130797.4	NP_570629.2:p.(Ser540=)	NC_000007.13:g.154598776C>T	(Likely) benign	1 lab	563e0a6300
2:179404552 TTN T>C	2	179404552	179404552	T	C	TTN	c.98240A>G	NM_001267550.2	NP_001254479.2:p.(Lys32747Arg)	NC_000002.11:g.179404552T>C	VUS	1 lab	563e8511b8
4:1957848 NSD2 G>A	4	1957848	1957848	G	A	NSD2	c.2814G>A	NM_133330.3	NP_579877.1:p.(Pro938=)	NC_000004.11:g.1957848G>A	(Likely) benign	1 lab	5640211691
10:81067280 ZMIZ1 C>A	10	81067280	81067280	C	A	ZMIZ1	c.2787C>A	NM_020338.4	NP_065071.1:p.(Asn929Lys)	NC_000010.10:g.81067280C>A	VUS	1 lab	5643a3bc71
6:7231837 RREB1 G>A	6	7231837	7231837	G	A	RREB1	c.3505G>A	NM_001003699.4	NP_001003699.1:p.(Gly1169Arg)	NC_000006.11:g.7231837G>A	VUS	1 lab	56450d995a
6:32006357 CYP21A2 C>G	6	32006357	32006357	C	G	CYP21A2	c.158C>G	NM_000500.9	NP_000491.4:p.(Thr53Ser)	NC_000006.11:g.32006357C>G	VUS	1 lab	56452965a4
16:88807975 PIEZO1 G>C	16	88807975	88807975	G	C	PIEZO1	c.376C>G	NM_001142864.4	NP_001136336.2:p.(Leu126Val)	NC_000016.9:g.88807975G>C	VUS	1 lab	5646894ee4
7:128486447 FLNC G>A	7	128486447	128486447	G	A	FLNC	c.4057G>A	NM_001458.5	NP_001449.3:p.(Val1353Ile)	NC_000007.13:g.128486447G>A	VUS	1 lab	5647a2db83
X:31986582 DMD T>C	X	31986582	31986582	T	C	DMD	c.6488A>G	NM_004006.3	NP_003997.2:p.(Asn2163Ser)	NC_000023.10:g.31986582T>C	VUS	1 lab	5649d8f062
21:47754634 PCNT C>G	21	47754634	47754634	C	G	PCNT	c.591C>G	NM_006031.6	NP_006022.3:p.(Ile197Met)	NC_000021.8:g.47754634C>G	(Likely) benign	1 lab	564cdfe366
17:61573761 ACE T>C	17	61573761	61573761	T	C	ACE	c.3387T>C	NM_000789.4	NP_000780.1:p.(Phe1129=)	NC_000017.10:g.61573761T>C	(Likely) benign	1 lab	565210f37e
1:43396833 SLC2A1 C>A	1	43396833	43396833	C	A	SLC2A1	c.159G>T	NM_006516.4	NP_006507.2:p.(Gly53=)	NC_000001.10:g.43396833C>A	VUS	1 lab	5653580548
19:39075688 RYR1 G>A	19	39075688	39075688	G	A	RYR1	c.14752G>A	NM_000540.3	NP_000531.2:p.(Asp4918Asn)	NC_000019.9:g.39075688G>A	(Likely) pathogenic	1 lab	565b8b720c
15:65369299 KBTBD13 G>T	15	65369299	65369299	G	T	KBTBD13	c.146G>T	NM_001101362.3	NP_001094832.1:p.(Arg49Leu)	NC_000015.9:g.65369299G>T	(Likely) benign	1 lab	565bc957e3
X:47065826 UBA1 A>G	X	47065826	47065826	A	G	UBA1	c.1921A>G	NM_003334.4	NP_003325.2:p.(Ile641Val)	NC_000023.10:g.47065826A>G	VUS	1 lab	566419bb9b
1:27105619 ARID1A C>G	1	27105619	27105619	C	G	ARID1A	c.5230C>G	NM_006015.6	NP_006006.3:p.(Leu1744Val)	NC_000001.10:g.27105619C>G	VUS	1 lab	5664a651d0
2:179463520 TTN G>C	2	179463520	179463520	G	C	TTN	c.56917C>G	NM_001267550.2	NP_001254479.2:p.(Pro18973Ala)	NC_000002.11:g.179463520G>C	VUS	1 lab	566584cee9
9:101533220 ANKS6 C>T	9	101533220	101533220	C	T	ANKS6	c.1930G>A	NM_173551.5	NP_775822.3:p.(Val644Ile)	NC_000009.11:g.101533220C>T	(Likely) benign	1 lab	5668f17074
6:76604573 MYO6 T>G	6	76604573	76604573	T	G	MYO6	c.3108-375T>G	NM_004999.4	NP_004990.3:p.?	NC_000006.11:g.76604573T>G	(Likely) benign	1 lab	566b677dfc
22:46777755 CELSR1 C>T	22	46777755	46777755	C	T	CELSR1	c.7076G>A	NM_014246.4	NP_055061.1:p.(Arg2359His)	NC_000022.10:g.46777755C>T	(Likely) benign	1 lab	566cc65321
X:148564704 IDS G>A	X	148564704	148564704	G	A	IDS	c.1226C>T	NM_000202.8	NP_000193.1:p.(Thr409Met)	NC_000023.10:g.148564704G>A	VUS	1 lab	5671233a0a
9:140846813 CACNA1B C>T	9	140846813	140846813	C	T	CACNA1B	c.1054C>T	NM_000718.4	NP_000709.1:p.(Leu352=)	NC_000009.11:g.140846813C>T	(Likely) benign	1 lab	567163107c
2:69093292 BMP10 T>A	2	69093292	69093292	T	A	BMP10	c.746A>T	NM_014482.3	NP_055297.1:p.(His249Leu)	NC_000002.11:g.69093292T>A	VUS	1 lab	5673dda7d4
22:19902730 TXNRD2 C>CA	22	19902730	19902731	C	CA	TXNRD2	c.591+6dup	NM_001282512.3	NP_001269441.1:p.?	NC_000022.10:g.19902731dup	(Likely) benign	1 lab	567ad6f6ea
2:145147262 ZEB2 C>T	2	145147262	145147262	C	T	ZEB2	c.3401G>A	NM_014795.4	NP_055610.1:p.(Gly1134Asp)	NC_000002.11:g.145147262C>T	VUS	1 lab	567b25eac7
16:88793224 PIEZO1 C>T	16	88793224	88793224	C	T	PIEZO1	c.3598G>A	NM_001142864.4	NP_001136336.2:p.(Gly1200Ser)	NC_000016.9:g.88793224C>T	VUS	1 lab	567fef2759
16:3778206 CREBBP G>A	16	3778206	3778206	G	A	CREBBP	c.6842C>T	NM_004380.3	NP_004371.2:p.(Ala2281Val)	NC_000016.9:g.3778206G>A	VUS	1 lab	56829f02ac
15:85411428 ALPK3 T>TG	15	85411428	85411432	T	TG	ALPK3	c.4863dup	NM_020778.5	NP_065829.4:p.(Leu1622AlafsTer20)	NC_000015.9:g.85411432dup	VUS	1 lab	5682e7e67d
2:240322070 HDAC4 C>T	2	240322070	240322070	C	T	HDAC4	c.-220+1G>A	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240322070C>T	(Likely) benign	1 lab	568615b540
2:179629391 TTN T>C	2	179629391	179629391	T	C	TTN	c.9851A>G	NM_001267550.2	NP_001254479.2:p.(Lys3284Arg)	NC_000002.11:g.179629391T>C	VUS	1 lab	568960f08a
19:13186389 NFIX G>A	19	13186389	13186389	G	A	NFIX	c.883G>A	NM_001271043.2	NP_001257972.1:p.(Glu295Lys)	NC_000019.9:g.13186389G>A	VUS	1 lab	5689d6a266
1:8422834 RERE T>C	1	8422834	8422834	T	C	RERE	c.1811A>G	NM_012102.4	NP_036234.3:p.(Glu604Gly)	NC_000001.10:g.8422834T>C	VUS	1 lab	568cc0d820
7:56087278 PSPH C>A	7	56087278	56087278	C	A	PSPH	c.275+15G>T	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56087278C>A	(Likely) benign	1 lab	568f8d1bda
7:91699518 AKAP9 A>C	7	91699518	91699518	A	C	AKAP9	c.6505A>C	NM_005751.5	NP_005742.4:p.(Lys2169Gln)	NC_000007.13:g.91699518A>C	VUS	1 lab	56972466f1
3:38607935 SCN5A T>C	3	38607935	38607935	T	C	SCN5A	c.3805A>G	NM_198056.3	NP_932173.1:p.(Asn1269Asp)	NC_000003.11:g.38607935T>C	VUS	1 lab	569ae711d7
17:29560148 NF1 G>C	17	29560148	29560148	G	C	NF1	c.3625G>C	NM_000267.3	NP_000258.1:p.(Val1209Leu)	NC_000017.10:g.29560148G>C	VUS	1 lab	56a277cab8
11:6636168 TPP1 G>A	11	6636168	6636168	G	A	TPP1	c.1480C>T	NM_000391.4	NP_000382.3:p.(Leu494Phe)	NC_000011.9:g.6636168G>A	VUS	1 lab	56a7902ad5
9:2039773 SMARCA2 GCAA>G	9	2039773	2039778	GCAA	G	SMARCA2	c.666_668del	NM_003070.5	NP_003061.3:p.(Gln238del)	NC_000009.11:g.2039776_2039778del	(Likely) benign	1 lab	56ac2df33e
11:1271420 MUC5B C>T	11	1271420	1271420	C	T	MUC5B	c.13310C>T	NM_002458.3	NP_002449.2:p.(Thr4437Met)	NC_000011.9:g.1271420C>T	(Likely) benign	1 lab	56ae067090
2:207014664 NDUFS1 A>G	2	207014664	207014664	A	G	NDUFS1	c.154-15T>C	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014664A>G	(Likely) benign	1 lab	56b5e172d2
13:32910421 BRCA2 G>A	13	32910421	32910421	G	A	BRCA2	c.1929G>A	NM_000059.4	NP_000050.3:p.(Val643=)	NC_000013.10:g.32910421G>A	(Likely) pathogenic	1 lab	56ba109b14
5:137013230 KLHL3 A>T	5	137013230	137013230	A	T	KLHL3	c.636+4T>A	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.137013230A>T	(Likely) benign	1 lab	56bb4bef41
X:70514333 NONO G>A	X	70514333	70514333	G	A	NONO	c.605G>A	NM_001145408.2	NP_001138880.1:p.(Arg202Gln)	NC_000023.10:g.70514333G>A	VUS	1 lab	56bfd81a1e
2:71014932 FIGLA A>T	2	71014932	71014932	A	T	FIGLA	c.233T>A	NM_001004311.3	NP_001004311.2:p.(Ile78Lys)	NC_000002.11:g.71014932A>T	(Likely) pathogenic	1 lab	56c463a3f3
14:99641202 BCL11B GCCGCCCCCGCGCCCGTTGACCGCGCCGC>G	14	99641202	99641234	GCCGCCCCCGCGCCCGTTGACCGCGCCGC	G	BCL11B	c.1943_1970del	NM_138576.4	NP_612808.1:p.(Gly648AlafsTer66)	NC_000014.8:g.99641207_99641234del	(Likely) pathogenic	1 lab	56ca0e99f1
11:62462072 BSCL2 C>T	11	62462072	62462072	C	T	BSCL2	c.406G>A	NM_032667.6	NP_116056.3:p.(Gly136Ser)	NC_000011.9:g.62462072C>T	VUS	1 lab	56cf0d955a
17:58740532 PPM1D TA>T	17	58740532	58740535	TA	T	PPM1D	c.1440del	NM_003620.4	NP_003611.1:p.(Ala481ProfsTer2)	NC_000017.10:g.58740535del	(Likely) pathogenic	1 lab	56cfbbc396
X:17744414 NHS CATG>C	X	17744414	17744420	CATG	C	NHS	c.2129_2131del	NM_198270.4	NP_938011.1:p.(Asp710del)	NC_000023.10:g.17744418_17744420del	VUS	1 lab	56d04dde55
19:17303613 MYO9B T>C	19	17303613	17303613	T	C	MYO9B	c.2870T>C	NM_004145.4	NP_004136.2:p.(Val957Ala)	NC_000019.9:g.17303613T>C	VUS	1 lab	56d42e5645
2:179597729 TTN T>C	2	179597729	179597729	T	C	TTN	c.16174A>G	NM_001267550.2	NP_001254479.2:p.(Lys5392Glu)	NC_000002.11:g.179597729T>C	VUS	1 lab	56d5b89f4a
2:179528384 TTN G>T	2	179528384	179528384	G	T	TTN	c.36502C>A	NM_001267550.2	NP_001254479.2:p.(Pro12168Thr)	NC_000002.11:g.179528384G>T	VUS	1 lab	56d7cbaa6b
2:168099108 XIRP2 GC>G	2	168099108	168099110	GC	G	XIRP2	c.542del	NM_001199144.2	NP_001186073.1:p.(Pro181HisfsTer5)	NC_000002.11:g.168099110del	VUS	1 lab	56ea4a35a7
3:123366083 MYLK A>G	3	123366083	123366083	A	G	MYLK	c.4607T>C	NM_053025.4	NP_444253.3:p.(Met1536Thr)	NC_000003.11:g.123366083A>G	VUS	1 lab	56eef6f209
10:89717707 PTEN T>C	10	89717707	89717707	T	C	PTEN	c.732T>C	NM_000314.8	NP_000305.3:p.(Pro244=)	NC_000010.10:g.89717707T>C	VUS	1 lab	56f1a68267
5:14758623 ANKH A>C	5	14758623	14758623	A	C	ANKH	c.398T>G	NM_054027.6	NP_473368.1:p.(Leu133Arg)	NC_000005.9:g.14758623A>C	VUS	1 lab	56f1b13826
11:17801116 KCNC1 C>T	11	17801116	17801116	C	T	KCNC1	c.1618C>T	NM_001112741.2	NP_001106212.1:p.(Arg540Cys)	NC_000011.9:g.17801116C>T	VUS	1 lab	56f3b1e837
X:119388254 ZBTB33 AGAG>A	X	119388254	119388268	AGAG	A	ZBTB33	c.996_998del	NM_001184742.2	NP_001171671.1:p.(Glu333del)	NC_000023.10:g.119388266_119388268del	VUS	1 lab	5713456dee
20:62316920 RTEL1 AGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCG>A	20	62316920	62317030	AGCAGGGCTGGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCAGGAGGCAGGTGGAGGGCAGCCCTTGTTCCCCG	A	RTEL1	c.1338+3_1338+80del	NM_032957.5	NP_116575.3:p.?	NC_000020.10:g.62316953_62317030del	(Likely) pathogenic	1 lab	56f3b9c57d
15:26825498 GABRB3 C>T	15	26825498	26825498	C	T	GABRB3	c.650G>A	NM_000814.6	NP_000805.1:p.(Arg217His)	NC_000015.9:g.26825498C>T	(Likely) benign	1 lab	56f7232397
10:81070858 ZMIZ1 G>A	10	81070858	81070858	G	A	ZMIZ1	c.3013G>A	NM_020338.4	NP_065071.1:p.(Asp1005Asn)	NC_000010.10:g.81070858G>A	(Likely) benign	1 lab	56f72667e6
8:117869013 RAD21 GA>G	8	117869013	117869016	GA	G	RAD21	c.689-4del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117869016del	(Likely) benign	1 lab	56f7835afe
16:4935820 PPL G>T	16	4935820	4935820	G	T	PPL	c.2836C>A	NM_002705.5	NP_002696.4:p.(Leu946Met)	NC_000016.9:g.4935820G>T	VUS	1 lab	56fe41ae68
14:35873770 NFKBIA G>A	14	35873770	35873770	G	A	NFKBIA	c.81C>T	NM_020529.3	NP_065390.1:p.(Asp27=)	NC_000014.8:g.35873770G>A	(Likely) benign	1 lab	56fe7689a1
3:64148809 PRICKLE2 A>C	3	64148809	64148809	A	C	PRICKLE2	c.145-4T>G	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64148809A>C	(Likely) benign	1 lab	56fec0136c
18:32470291 DTNA G>A	18	32470291	32470291	G	A	DTNA	c.2062G>A	NM_001198938.2	NP_001185867.1:p.(Glu688Lys)	NC_000018.9:g.32470291G>A	(Likely) benign	1 lab	57006c7737
X:69247774 EDA A>AC	X	69247774	69247779	A	AC	EDA	c.599dup	NM_001399.5	NP_001390.1:p.(Gly201ArgfsTer39)	NC_000023.10:g.69247779dup	(Likely) pathogenic	1 lab	57027b7e4c
3:38622664 SCN5A C>T	3	38622664	38622664	C	T	SCN5A	c.2986G>A	NM_198056.3	NP_932173.1:p.(Ala996Thr)	NC_000003.11:g.38622664C>T	VUS	1 lab	5707e6b871
17:70117927 SOX9 A>C	17	70117927	70117927	A	C	SOX9	c.395A>C	NM_000346.4	NP_000337.1:p.(Asn132Thr)	NC_000017.10:g.70117927A>C	(Likely) pathogenic	1 lab	570929d9f4
7:65425894 GUSB A>G	7	65425894	65425894	A	G	GUSB	c.1946T>C	NM_000181.4	NP_000172.2:p.(Leu649Pro)	NC_000007.13:g.65425894A>G	(Likely) benign	1 lab	570baf5972
2:179449788 TTN A>G	2	179449788	179449788	A	G	TTN	c.64672+11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179449788A>G	(Likely) benign	1 lab	570dfbaa6f
2:179418016 TTN C>T	2	179418016	179418016	C	T	TTN	c.89611G>A	NM_001267550.2	NP_001254479.2:p.(Val29871Ile)	NC_000002.11:g.179418016C>T	VUS	1 lab	571ef3f841
10:267237 ZMYND11 TTGTC>T	10	267237	267243	TTGTC	T	ZMYND11	c.331_334del	NM_001330057.3	NP_001316986.1:p.(Ser111MetfsTer41)	NC_000010.10:g.267240_267243del	(Likely) pathogenic	1 lab	572098df54
18:55274469 NARS1 A>T	18	55274469	55274469	A	T	NARS1	c.898T>A	NM_004539.4	NP_004530.1:p.(Ser300Thr)	NC_000018.9:g.55274469A>T	VUS	1 lab	5721f27d47
10:105805497 COL17A1 C>T	10	105805497	105805497	C	T	COL17A1	c.2398+19G>A	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105805497C>T	(Likely) benign	1 lab	572404403e
4:6302428 WFS1 C>T	4	6302428	6302428	C	T	WFS1	c.906C>T	NM_006005.3	NP_005996.2:p.(Tyr302=)	NC_000004.11:g.6302428C>T	(Likely) benign	1 lab	57249dc0fa
12:32949053 PKP2 CA>C	12	32949053	32949054	CA	C	PKP2	c.2478del	NM_004572.4	NP_004563.2:p.(Ser826ArgfsTer105)	NC_000012.11:g.32949054del	(Likely) pathogenic	1 lab	5724e37e08
17:29631609 NF1 G>C	17	29631609	29631609	G	C	NF1	c.4773-21229G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29631609G>C	(Likely) benign	1 lab	57250a62d5
20:61987352 CHRNA4 G>A	20	61987352	61987352	G	A	CHRNA4	c.358C>T	NM_000744.7	NP_000735.1:p.(Arg120Trp)	NC_000020.10:g.61987352G>A	VUS	1 lab	5727e9ee89
1:22217175 HSPG2 G>C	1	22217175	22217175	G	C	HSPG2	c.257C>G	NM_005529.7	NP_005520.4:p.(Ala86Gly)	NC_000001.10:g.22217175G>C	VUS	1 lab	572b789631
1:245852037 KIF26B A>G	1	245852037	245852037	A	G	KIF26B	c.5752A>G	NM_018012.4	NP_060482.2:p.(Thr1918Ala)	NC_000001.10:g.245852037A>G	VUS	1 lab	572b7c0254
12:49420856 KMT2D C>T	12	49420856	49420856	C	T	KMT2D	c.14893G>A	NM_003482.4	NP_003473.3:p.(Ala4965Thr)	NC_000012.11:g.49420856C>T	(Likely) benign	1 lab	572c65d161
12:49435113 KMT2D G>A	12	49435113	49435113	G	A	KMT2D	c.6440C>T	NM_003482.4	NP_003473.3:p.(Ala2147Val)	NC_000012.11:g.49435113G>A	(Likely) benign	1 lab	572cf4bcc5
3:50357244 HYAL2 C>T	3	50357244	50357244	C	T	HYAL2	c.677G>A	NM_033158.5	NP_149348.2:p.(Arg226His)	NC_000003.11:g.50357244C>T	VUS	1 lab	572d50a918
2:198352758 HSPD1 T>C	2	198352758	198352758	T	C	HSPD1	c.1393A>G	NM_002156.5	NP_002147.2:p.(Ile465Val)	NC_000002.11:g.198352758T>C	(Likely) benign	1 lab	573045f5b7
17:42429576 GRN C>T	17	42429576	42429576	C	T	GRN	c.1373C>T	NM_002087.4	NP_002078.1:p.(Pro458Leu)	NC_000017.10:g.42429576C>T	VUS	1 lab	573459e514
19:7142844 INSR G>C	19	7142844	7142844	G	C	INSR	c.2525C>G	NM_000208.4	NP_000199.2:p.(Ala842Gly)	NC_000019.9:g.7142844G>C	VUS	1 lab	5739d87d2d
9:130984880 DNM1 G>A	9	130984880	130984880	G	A	DNM1	c.1128+5G>A	NM_001288738.2	NP_001275667.1:p.?	NC_000009.11:g.130984880G>A	(Likely) benign	1 lab	573eae8a4b
8:48798507 PRKDC T>C	8	48798507	48798507	T	C	PRKDC	c.4774A>G	NM_006904.7	NP_008835.5:p.(Met1592Val)	NC_000008.10:g.48798507T>C	VUS	1 lab	5740f35f97
18:29054288 DSG3 G>A	18	29054288	29054288	G	A	DSG3	c.2306G>A	NM_001944.3	NP_001935.2:p.(Arg769Lys)	NC_000018.9:g.29054288G>A	VUS	1 lab	57415c9367
17:38978462 KRT10 C>T	17	38978462	38978462	C	T	KRT10	c.376G>A	NM_000421.5	NP_000412.4:p.(Gly126Ser)	NC_000017.10:g.38978462C>T	(Likely) benign	1 lab	5747da629e
2:179449558 TTN G>A	2	179449558	179449558	G	A	TTN	c.64810C>T	NM_001267550.2	NP_001254479.2:p.(Arg21604Ter)	NC_000002.11:g.179449558G>A	(Likely) pathogenic	1 lab	574a2ef683
5:251449 SDHA C>G	5	251449	251449	C	G	SDHA	c.1664-4C>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.251449C>G	(Likely) benign	1 lab	574d7ea6e8
19:33464412 FAAP24 G>A	19	33464412	33464412	G	A	FAAP24	c.187G>A	NM_152266.5	NP_689479.1:p.(Glu63Lys)	NC_000019.9:g.33464412G>A	VUS	1 lab	575276a1af
14:96009307 GLRX5 C>T	14	96009307	96009307	C	T	GLRX5	c.296-977C>T	NM_016417.3	NP_057501.2:p.?	NC_000014.8:g.96009307C>T	(Likely) benign	1 lab	5752ef729a
17:48276971 COL1A1 G>C	17	48276971	48276971	G	C	COL1A1	c.299-20C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48276971G>C	(Likely) benign	1 lab	575676af77
X:102192368 RAB40AL C>T	X	102192368	102192368	C	T	RAB40AL	c.122C>T	NM_001031834.1	NP_001027004.1:p.(Ser41Phe)	NC_000023.10:g.102192368C>T	VUS	1 lab	5759d3d93a
13:32906602 BRCA2 GA>G	13	32906602	32906609	GA	G	BRCA2	c.994del	NM_000059.4	NP_000050.3:p.(Ile332PhefsTer17)	NC_000013.10:g.32906609del	(Likely) pathogenic	1 lab	575a454d71
19:36211132 KMT2B C>T	19	36211132	36211132	C	T	KMT2B	c.883C>T	NM_014727.3	NP_055542.1:p.(Arg295Cys)	NC_000019.9:g.36211132C>T	VUS	1 lab	575c8b5cf7
7:127961330 RBM28 G>A	7	127961330	127961330	G	A	RBM28	c.1552C>T	NM_018077.3	NP_060547.2:p.(Arg518Cys)	NC_000007.13:g.127961330G>A	(Likely) benign	1 lab	575d4c0adb
5:147449951 SPINK5 AT>A	5	147449951	147449957	AT	A	SPINK5	c.153del	NM_006846.4	NP_006837.2:p.(Gln52LysfsTer6)	NC_000005.9:g.147449957del	(Likely) pathogenic	1 lab	5760041522
2:207014666 NDUFS1 A>G	2	207014666	207014666	A	G	NDUFS1	c.154-17T>C	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014666A>G	(Likely) benign	1 lab	576ae1a64e
14:35480865 SRP54 A>C	14	35480865	35480865	A	C	SRP54	c.636A>C	NM_003136.4	NP_003127.1:p.(Ile212=)	NC_000014.8:g.35480865A>C	(Likely) benign	1 lab	576e5c1120
12:8998103 A2ML1 G>A	12	8998103	8998103	G	A	A2ML1	c.1537+5G>A	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8998103G>A	(Likely) benign	1 lab	576f8c3db7
19:50369676 PNKP G>C	19	50369676	50369676	G	C	PNKP	c.178C>G	NM_007254.4	NP_009185.2:p.(Arg60Gly)	NC_000019.9:g.50369676G>C	VUS	1 lab	57741ab46a
15:99320119 IGF1R T>A	15	99320119	99320119	T	A	IGF1R	c.640+68783T>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99320119T>A	(Likely) benign	1 lab	577a2f14d9
2:179397465 TTN T>G	2	179397465	179397465	T	G	TTN	c.96173A>C	NM_133378.4	NP_596869.4:p.(Gln32058Pro)	NC_000002.11:g.179397465T>G	VUS	1 lab	577a80c8bc
17:78306280 RNF213 A>G	17	78306280	78306280	A	G	RNF213	c.3992A>G	NM_001256071.3	NP_001243000.2:p.(Asp1331Gly)	NC_000017.10:g.78306280A>G	(Likely) benign	1 lab	577df04230
X:47038508 RBM10 G>A	X	47038508	47038508	G	A	RBM10	c.670G>A	NM_005676.5	NP_005667.2:p.(Val224Ile)	NC_000023.10:g.47038508G>A	VUS	1 lab	577f1ddb15
10:50691430 ERCC6 G>A	10	50691430	50691430	G	A	ERCC6	c.1954C>T	NM_000124.4	NP_000115.1:p.(Arg652Ter)	NC_000010.10:g.50691430G>A	(Likely) pathogenic	1 lab	578706f7e1
6:129835588 LAMA2 T>C	6	129835588	129835588	T	C	LAMA2	c.9059T>C	NM_000426.4	NP_000417.3:p.(Leu3020Ser)	NC_000006.11:g.129835588T>C	VUS	1 lab	5787191a51
X:70362036 MED12 C>T	X	70362036	70362036	C	T	MED12	c.6502C>T	NM_005120.3	NP_005111.2:p.(Gln2168Ter)	NC_000023.10:g.70362036C>T	VUS	1 lab	578c72bcf2
8:61765531 CHD7 C>T	8	61765531	61765531	C	T	CHD7	c.6247C>T	NM_017780.4	NP_060250.2:p.(Pro2083Ser)	NC_000008.10:g.61765531C>T	(Likely) benign	1 lab	578db0350e
4:187175722 KLKB1 T>A	4	187175722	187175722	T	A	KLKB1	c.1314-20T>A	NM_000892.5	NP_000883.2:p.?	NC_000004.11:g.187175722T>A	(Likely) benign	1 lab	578dc368d0
17:11523061 DNAH9 G>A	17	11523061	11523061	G	A	DNAH9	c.1313G>A	NM_001372.4	NP_001363.2:p.(Arg438Gln)	NC_000017.10:g.11523061G>A	VUS	1 lab	57ed15b88b
4:71508522 ENAM A>G	4	71508522	71508522	A	G	ENAM	c.1379A>G	NM_031889.3	NP_114095.2:p.(Asn460Ser)	NC_000004.11:g.71508522A>G	VUS	1 lab	579891caf3
1:12318083 VPS13D C>T	1	12318083	12318083	C	T	VPS13D	c.1033C>T	NM_015378.4	NP_056193.2:p.(Arg345Cys)	NC_000001.10:g.12318083C>T	VUS	1 lab	579a194435
15:63349257 TPM1 G>A	15	63349257	63349257	G	A	TPM1	c.206G>A	NM_001330351.2	NP_001317280.1:p.(Arg69His)	NC_000015.9:g.63349257G>A	VUS	1 lab	579c02c2c6
22:36661842 APOL1 G>A	22	36661842	36661842	G	A	APOL1	c.1008G>A	NM_145343.2	NP_663318.1:p.(Arg336=)	NC_000022.10:g.36661842G>A	(Likely) benign	1 lab	579dcafa7c
2:160303294 BAZ2B T>C	2	160303294	160303294	T	C	BAZ2B	c.689A>G	NM_001289975.1	NP_001276904.1:p.(Lys230Arg)	NC_000002.11:g.160303294T>C	VUS	1 lab	579e55441f
10:43601948 RET T>C	10	43601948	43601948	T	C	RET	c.992T>C	NM_020975.6	NP_066124.1:p.(Val331Ala)	NC_000010.10:g.43601948T>C	VUS	1 lab	57a16eaf2b
2:179421715 TTN T>C	2	179421715	179421715	T	C	TTN	c.88166A>G	NM_001267550.2	NP_001254479.2:p.(Asn29389Ser)	NC_000002.11:g.179421715T>C	VUS	1 lab	57a9d380ed
1:11855175 MTHFR C>A	1	11855175	11855175	C	A	MTHFR	c.1011G>T	NM_005957.5	NP_005948.3:p.(Gly337=)	NC_000001.10:g.11855175C>A	VUS	1 lab	57aaadb248
4:190883026 FRG1 GA>G	4	190883026	190883027	GA	G	FRG1	c.680del	NM_004477.3	NP_004468.1:p.(Asp227AlafsTer25)	NC_000004.11:g.190883027del	(Likely) benign	1 lab	57aece0a69
6:32821410 TAP1 C>T	6	32821410	32821410	C	T	TAP1	c.4G>A	NM_000593.6	NP_000584.3:p.(Ala2Thr)	NC_000006.11:g.32821410C>T	VUS	1 lab	57bb389c33
1:1459732 ATAD3A C>T	1	1459732	1459732	C	T	ATAD3A	c.1169C>T	NM_001170535.3	NP_001164006.1:p.(Thr390Ile)	NC_000001.10:g.1459732C>T	VUS	1 lab	57bf5a9965
14:21899743 CHD8 CAG>C	14	21899743	21899749	CAG	C	CHD8	c.58_59del	NM_001170629.2	NP_001164100.1:p.(Leu20AspfsTer2)	NC_000014.8:g.21899748_21899749del	(Likely) pathogenic	1 lab	57bf5c5177
12:56563602 SMARCC2 C>T	12	56563602	56563602	C	T	SMARCC2	c.2413G>A	NM_003075.5	NP_003066.2:p.(Asp805Asn)	NC_000012.11:g.56563602C>T	(Likely) benign	1 lab	57bf8c297e
2:179639705 TTN T>A	2	179639705	179639705	T	A	TTN	c.6733A>T	NM_001267550.2	NP_001254479.2:p.(Ser2245Cys)	NC_000002.11:g.179639705T>A	VUS	1 lab	57cd1a733b
11:108124581 ATM G>A	11	108124581	108124581	G	A	ATM	c.1939G>A	NM_000051.4	NP_000042.3:p.(Glu647Lys)	NC_000011.9:g.108124581G>A	(Likely) benign	1 lab	57cedd289d
3:4810231 ITPR1 G>A	3	4810231	4810231	G	A	ITPR1	c.5573G>A	NM_002222.7	NP_002213.5:p.(Arg1858Gln)	NC_000003.11:g.4810231G>A	VUS	1 lab	57d5fc661a
X:48970663 GPKOW G>A	X	48970663	48970663	G	A	GPKOW	c.1327C>T	NM_015698.6	NP_056513.2:p.(Arg443Trp)	NC_000023.10:g.48970663G>A	(Likely) benign	1 lab	57d90acd1a
18:43480985 EPG5 AG>A	18	43480985	43480987	AG	A	EPG5	c.4621del	NM_020964.3	NP_066015.2:p.(Leu1541Ter)	NC_000018.9:g.43480987del	(Likely) pathogenic	1 lab	57dfe89efd
14:102468873 DYNC1H1 G>C	14	102468873	102468873	G	C	DYNC1H1	c.4543-1G>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102468873G>C	VUS	1 lab	57e4a4c893
13:48878061 RB1 A>AC	13	48878061	48878067	A	AC	RB1	c.19dup	NM_000321.3	NP_000312.2:p.(Arg7ProfsTer24)	NC_000013.10:g.48878067dup	(Likely) pathogenic	1 lab	57f8cc774d
12:21791272 LDHB T>C	12	21791272	21791272	T	C	LDHB	c.713+15A>G	NM_001174097.3	NP_001167568.1:p.?	NC_000012.11:g.21791272T>C	(Likely) benign	1 lab	57f9e5a20b
20:42788452 JPH2 G>T	20	42788452	42788452	G	T	JPH2	c.975C>A	NM_020433.5	NP_065166.2:p.(Gly325=)	NC_000020.10:g.42788452G>T	VUS	1 lab	57fcd6f0d3
19:36593882 WDR62 A>C	19	36593882	36593882	A	C	WDR62	c.3368A>C	NM_001083961.2	NP_001077430.1:p.(Gln1123Pro)	NC_000019.9:g.36593882A>C	(Likely) benign	1 lab	57fe73493b
3:47891593 DHX30 A>C	3	47891593	47891593	A	C	DHX30	c.3568A>C	NM_138615.3	NP_619520.1:p.(Lys1190Gln)	NC_000003.11:g.47891593A>C	VUS	1 lab	57fe80509e
3:49832806 CDHR4 C>T	3	49832806	49832806	C	T	CDHR4	c.854G>A	NM_001007540.4	NP_001007541.2:p.(Gly285Asp)	NC_000003.11:g.49832806C>T	VUS	1 lab	57feffadb3
2:27164922 DPYSL5 C>T	2	27164922	27164922	C	T	DPYSL5	c.1194C>T	NM_020134.4	NP_064519.2:p.(Ala398=)	NC_000002.11:g.27164922C>T	(Likely) benign	1 lab	580542d47e
6:32629859 HLA-DQB1 A>G	6	32629859	32629859	A	G	HLA-DQB1	c.546T>C	NM_001243961.2	NP_001230890.1:p.(Asn182=)	NC_000006.11:g.32629859A>G	(Likely) benign	1 lab	5806b637da
6:143091347 HIVEP2 G>A	6	143091347	143091347	G	A	HIVEP2	c.4529C>T	NM_006734.4	NP_006725.3:p.(Ser1510Leu)	NC_000006.11:g.143091347G>A	VUS	1 lab	580e3691ac
15:23889804 MAGEL2 T>C	15	23889804	23889804	T	C	MAGEL2	c.3086A>G	NM_019066.5	NP_061939.3:p.(Gln1029Arg)	NC_000015.9:g.23889804T>C	VUS	1 lab	580e9e8b81
6:170870964 TBP A>G	6	170870964	170870964	A	G	TBP	c.140A>G	NM_003194.5	NP_003185.1:p.(Asn47Ser)	NC_000006.11:g.170870964A>G	VUS	1 lab	58108bd1fe
3:58140566 FLNB T>C	3	58140566	58140566	T	C	FLNB	c.6683T>C	NM_001457.4	NP_001448.2:p.(Ile2228Thr)	NC_000003.11:g.58140566T>C	VUS	1 lab	581606b04f
2:179586794 TTN A>C	2	179586794	179586794	A	C	TTN	c.21645T>G	NM_001256850.1	NP_001243779.1:p.(Ala7215=)	NC_000002.11:g.179586794A>C	(Likely) benign	1 lab	581f3c1237
16:85695315 GSE1 G>C	16	85695315	85695315	G	C	GSE1	c.2204G>C	NM_014615.5	NP_055430.1:p.(Arg735Thr)	NC_000016.9:g.85695315G>C	VUS	1 lab	582c3475b0
9:2039546 SMARCA2 C>T	9	2039546	2039546	C	T	SMARCA2	c.436C>T	NM_003070.5	NP_003061.3:p.(Pro146Ser)	NC_000009.11:g.2039546C>T	VUS	1 lab	582c368f55
13:35734078 NBEA C>T	13	35734078	35734078	C	T	NBEA	c.3770C>T	NM_015678.5	NP_056493.3:p.(Ala1257Val)	NC_000013.10:g.35734078C>T	VUS	1 lab	582c4f9425
4:1807494 FGFR3 G>T	4	1807494	1807494	G	T	FGFR3	c.1663G>T	NM_000142.5	NP_000133.1:p.(Val555Leu)	NC_000004.11:g.1807494G>T	VUS	1 lab	5834f0b586
12:21011480 SLCO1B3 T>G	12	21011480	21011480	T	G	SLCO1B3	c.334T>G	NM_019844.4	NP_062818.1:p.(Ser112Ala)	NC_000012.11:g.21011480T>G	(Likely) benign	1 lab	583b04aaa1
17:41256906 BRCA1 G>A	17	41256906	41256906	G	A	BRCA1	c.280C>T	NM_007294.4	NP_009225.1:p.(Gln94Ter)	NC_000017.10:g.41256906G>A	(Likely) pathogenic	1 lab	583c510230
14:64519899 SYNE2 A>G	14	64519899	64519899	A	G	SYNE2	c.9268A>G	NM_182914.3	NP_878918.2:p.(Arg3090Gly)	NC_000014.8:g.64519899A>G	VUS	1 lab	5845994a97
1:10714033 CASZ1 C>T	1	10714033	10714033	C	T	CASZ1	c.2081G>A	NM_001079843.3	NP_001073312.1:p.(Arg694His)	NC_000001.10:g.10714033C>T	VUS	1 lab	58469cb9b4
9:139410175 NOTCH1 C>T	9	139410175	139410175	C	T	NOTCH1	c.1670-7G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410175C>T	(Likely) pathogenic	1 lab	58489549da
6:158541618 SERAC1 G>A	6	158541618	158541618	G	A	SERAC1	c.1016-11C>T	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158541618G>A	(Likely) benign	1 lab	584d453372
16:28845869 ATXN2L C>T	16	28845869	28845869	C	T	ATXN2L	c.2288C>T	NM_148416.3	NP_680782.1:p.(Ser763Leu)	NC_000016.9:g.28845869C>T	VUS	1 lab	5854f72225
9:131370474 SPTAN1 C>T	9	131370474	131370474	C	T	SPTAN1	c.4410C>T	NM_001130438.3	NP_001123910.1:p.(Thr1470=)	NC_000009.11:g.131370474C>T	(Likely) benign	1 lab	58589fcebd
12:12301952 LRP6 C>T	12	12301952	12301952	C	T	LRP6	c.3130G>A	NM_002336.3	NP_002327.2:p.(Asp1044Asn)	NC_000012.11:g.12301952C>T	VUS	1 lab	58855ec86b
15:89826417 FANCI AG>A	15	89826417	89826418	AG	A	FANCI	c.1635del	NM_001113378.2	NP_001106849.1:p.(Asn546ThrfsTer5)	NC_000015.9:g.89826418del	(Likely) pathogenic	1 lab	586377acc7
14:23866199 MYH6 C>T	14	23866199	23866199	C	T	MYH6	c.2141G>A	NM_002471.4	NP_002462.2:p.(Arg714His)	NC_000014.8:g.23866199C>T	VUS	1 lab	5864680ed7
6:143074549 HIVEP2 G>A	6	143074549	143074549	G	A	HIVEP2	c.7036C>T	NM_006734.4	NP_006725.3:p.(Leu2346Phe)	NC_000006.11:g.143074549G>A	(Likely) benign	1 lab	586826a4d5
X:120183030 GLUD2 T>G	X	120183030	120183030	T	G	GLUD2	c.1492T>G	NM_012084.4	NP_036216.2:p.(Ser498Ala)	NC_000023.10:g.120183030T>G	VUS	1 lab	586e09b680
16:53721758 RPGRIP1L CA>C	16	53721758	53721764	CA	C	RPGRIP1L	c.632+16del	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53721764del	(Likely) benign	1 lab	58741e174b
22:24175743 SMARCB1 C>T	22	24175743	24175743	C	T	SMARCB1	c.987-16C>T	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24175743C>T	(Likely) benign	1 lab	58781b3feb
X:144905891 SLITRK2 G>A	X	144905891	144905891	G	A	SLITRK2	c.1948G>A	NM_032539.5	NP_115928.1:p.(Val650Met)	NC_000023.10:g.144905891G>A	VUS	1 lab	587e28584c
6:111697090 REV3L G>A	6	111697090	111697090	G	A	REV3L	c.2468C>T	NM_002912.5	NP_002903.3:p.(Pro823Leu)	NC_000006.11:g.111697090G>A	VUS	1 lab	58804f7e39
1:66074545 LEPR G>T	1	66074545	66074545	G	T	LEPR	c.1713G>T	NM_002303.6	NP_002294.2:p.(Gln571His)	NC_000001.10:g.66074545G>T	VUS	1 lab	5883754d98
17:76120790 TMC6 G>A	17	76120790	76120790	G	A	TMC6	c.706C>T	NM_001127198.5	NP_001120670.1:p.(Arg236Cys)	NC_000017.10:g.76120790G>A	VUS	1 lab	58864e0f55
2:179402168 TTN T>G	2	179402168	179402168	T	G	TTN	c.99766A>C	NM_001267550.2	NP_001254479.2:p.(Met33256Leu)	NC_000002.11:g.179402168T>G	VUS	1 lab	588ae96d0f
9:94487067 ROR2 G>A	9	94487067	94487067	G	A	ROR2	c.1709C>T	NM_004560.4	NP_004551.2:p.(Pro570Leu)	NC_000009.11:g.94487067G>A	VUS	1 lab	58933e881e
3:37091996 MLH1 TTCCAAAC>T	3	37091996	37092006	TTCCAAAC	T	MLH1	c.2127_2133del	NM_000249.4	NP_000240.1:p.(Asn710GlyfsTer71)	NC_000003.11:g.37092000_37092006del	(Likely) pathogenic	1 lab	5896d89e75
12:52911937 KRT5 C>T	12	52911937	52911937	C	T	KRT5	c.781G>A	NM_000424.4	NP_000415.2:p.(Glu261Lys)	NC_000012.11:g.52911937C>T	VUS	1 lab	589a3beb51
11:3988824 STIM1 A>G	11	3988824	3988824	A	G	STIM1	c.182A>G	NM_003156.4	NP_003147.2:p.(Glu61Gly)	NC_000011.9:g.3988824A>G	VUS	1 lab	589a84b1eb
X:149828205 MTM1 TTG>T	X	149828205	149828213	TTG	T	MTM1	c.1336_1337del	NM_000252.3	NP_000243.1:p.(Trp446AlafsTer11)	NC_000023.10:g.149828212_149828213del	(Likely) pathogenic	1 lab	58a081ae4d
16:8988685 USP7 G>A	16	8988685	8988685	G	A	USP7	c.2770C>T	NM_001286458.2	NP_001273387.1:p.(Arg924Ter)	NC_000016.9:g.8988685G>A	(Likely) pathogenic	1 lab	58a273a771
10:92675373 ANKRD1 G>A	10	92675373	92675373	G	A	ANKRD1	c.776C>T	NM_014391.3	NP_055206.2:p.(Ala259Val)	NC_000010.10:g.92675373G>A	VUS	1 lab	58a3a8e71a
10:50683438 ERCC6 T>C	10	50683438	50683438	T	C	ERCC6	c.2382+823A>G	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50683438T>C	(Likely) benign	1 lab	58a50a5e11
10:99504630 ZFYVE27 G>T	10	99504630	99504630	G	T	ZFYVE27	c.413G>T	NM_144588.7	NP_653189.3:p.(Gly138Val)	NC_000010.10:g.99504630G>T	(Likely) benign	1 lab	58a91e604c
12:6122725 VWF C>T	12	6122725	6122725	C	T	VWF	c.5542G>A	NM_000552.5	NP_000543.3:p.(Val1848Met)	NC_000012.11:g.6122725C>T	VUS	1 lab	58aa8924b7
15:89400339 ACAN A>C	15	89400339	89400339	A	C	ACAN	c.4523A>C	NM_013227.4	NP_037359.3:p.(Glu1508Ala)	NC_000015.9:g.89400339A>C	(Likely) benign	1 lab	58aef954ab
9:139397775 NOTCH1 C>T	9	139397775	139397775	C	T	NOTCH1	c.5026G>A	NM_017617.5	NP_060087.3:p.(Val1676Ile)	NC_000009.11:g.139397775C>T	VUS	1 lab	58aff6a31a
2:179664593 TTN T>C	2	179664593	179664593	T	C	TTN	c.628A>G	NM_001267550.2	NP_001254479.2:p.(Thr210Ala)	NC_000002.11:g.179664593T>C	VUS	1 lab	58b26df154
6:33408514 SYNGAP1 C>T	6	33408514	33408514	C	T	SYNGAP1	c.1685C>T	NM_006772.3	NP_006763.2:p.(Pro562Leu)	NC_000006.11:g.33408514C>T	(Likely) pathogenic	1 lab	58b5613777
14:23886795 MYH7 C>T	14	23886795	23886795	C	T	MYH7	c.4270G>A	NM_000257.4	NP_000248.2:p.(Glu1424Lys)	NC_000014.8:g.23886795C>T	VUS	1 lab	58b5ea14fa
12:52863017 KRT6C G>A	12	52863017	52863017	G	A	KRT6C	c.1524C>T	NM_173086.5	NP_775109.2:p.(Gly508=)	NC_000012.11:g.52863017G>A	(Likely) benign	1 lab	58bde89871
10:92677575 ANKRD1 C>T	10	92677575	92677575	C	T	ANKRD1	c.466G>A	NM_014391.3	NP_055206.2:p.(Ala156Thr)	NC_000010.10:g.92677575C>T	VUS	1 lab	58c16ac42a
12:122064708 ORAI1 G>T	12	122064708	122064708	G	T	ORAI1	c.61G>T	NM_032790.3	NP_116179.2:p.(Gly21Cys)	NC_000012.11:g.122064708G>T	VUS	1 lab	58c732e07c
8:38884342 ADAM9 G>GTTCT	8	38884342	38884347	G	GTTCT	ADAM9	c.1130+15_1130+18dup	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38884344_38884347dup	(Likely) benign	1 lab	58cfa810c5
7:151273488 PRKAG2 T>A	7	151273488	151273488	T	A	PRKAG2	c.915A>T	NM_016203.4	NP_057287.2:p.(Pro305=)	NC_000007.13:g.151273488T>A	(Likely) benign	1 lab	58d08997e6
11:5246986 HBB T>G	11	5246986	5246986	T	G	HBB	c.316-30A>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5246986T>G	(Likely) benign	1 lab	58d3f34375
X:63411914 AMER1 C>T	X	63411914	63411914	C	T	AMER1	c.1253G>A	NM_152424.4	NP_689637.3:p.(Arg418Gln)	NC_000023.10:g.63411914C>T	VUS	1 lab	58d87d0fab
17:29533390 NF1 G>T	17	29533390	29533390	G	T	NF1	c.1392+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533390G>T	(Likely) pathogenic	1 lab	58d9bab226
2:211512644 CPS1 C>T	2	211512644	211512644	C	T	CPS1	c.3199C>T	NM_001875.5	NP_001866.2:p.(Pro1067Ser)	NC_000002.11:g.211512644C>T	VUS	1 lab	58dc381542
X:79984364 BRWD3 T>A	X	79984364	79984364	T	A	BRWD3	c.1273A>T	NM_153252.5	NP_694984.5:p.(Lys425Ter)	NC_000023.10:g.79984364T>A	(Likely) pathogenic	1 lab	58dc6f3265
1:9305126 H6PD G>A	1	9305126	9305126	G	A	H6PD	c.133G>A	NM_004285.4	NP_004276.2:p.(Gly45Arg)	NC_000001.10:g.9305126G>A	VUS	1 lab	58dd248abc
17:41246428 BRCA1 T>TTCAG	17	41246428	41246430	T	TTCAG	BRCA1	c.1119_1120insCTGA	NM_007294.4	NP_009225.1:p.(Thr374LeufsTer5)	NC_000017.10:g.41246429_41246430insCAGT	(Likely) pathogenic	1 lab	58de92f62f
14:21878008 CHD8 A>G	14	21878008	21878008	A	G	CHD8	c.2364+2T>C	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21878008A>G	VUS	1 lab	58df99547b
17:44144993 KANSL1 C>G	17	44144993	44144993	C	G	KANSL1	c.1574=	NM_001193466.2	NP_001180395.1:p.(Pro525=)	NC_000017.10:g.44144993C>G	(Likely) benign	1 lab	58e07c23d9
X:53227999 KDM5C G>T	X	53227999	53227999	G	T	KDM5C				NC_000023.10:g.53227999G>T	(Likely) benign	1 lab	f12256a842
6:7585117 DSP G>A	6	7585117	7585117	G	A	DSP	c.7622G>A	NM_004415.4	NP_004406.2:p.(Arg2541Lys)	NC_000006.11:g.7585117G>A	VUS	1 lab	58e098cdc3
X:153663614 ATP6AP1 C>A	X	153663614	153663614	C	A	ATP6AP1	c.972-6C>A	NM_001183.6	NP_001174.2:p.?	NC_000023.10:g.153663614C>A	(Likely) benign	1 lab	58e1639523
1:78395164 NEXN C>T	1	78395164	78395164	C	T	NEXN	c.1028C>T	NM_144573.4	NP_653174.3:p.(Ala343Val)	NC_000001.10:g.78395164C>T	(Likely) benign	1 lab	58e31a579b
1:235950497 LYST T>C	1	235950497	235950497	T	C	LYST	c.4862+3A>G	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235950497T>C	(Likely) benign	1 lab	58ea7d2067
21:34923231 SON C>T	21	34923231	34923231	C	T	SON	c.1694C>T	NM_032195.3	NP_115571.3:p.(Ser565Leu)	NC_000021.8:g.34923231C>T	VUS	1 lab	58ecfc3016
X:69255211 EDA T>C	X	69255211	69255211	T	C	EDA	c.928T>C	NM_001399.5	NP_001390.1:p.(Tyr310His)	NC_000023.10:g.69255211T>C	(Likely) pathogenic	1 lab	58f3398ee4
21:44845968 SIK1 G>C	21	44845968	44845968	G	C	SIK1	c.91C>G	NM_173354.5	NP_775490.2:p.(Arg31Gly)	NC_000021.8:g.44845968G>C	(Likely) benign	1 lab	58f3562b0e
5:90052263 ADGRV1 T>TC	5	90052263	90052268	T	TC	ADGRV1	c.11581-3dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90052268dup	(Likely) benign	1 lab	58f4711b2f
8:119941173 TNFRSF11B A>G	8	119941173	119941173	A	G	TNFRSF11B	c.401-5T>C	NM_002546.4	NP_002537.3:p.?	NC_000008.10:g.119941173A>G	(Likely) benign	1 lab	58f5bf057a
7:47882624 PKD1L1 C>A	7	47882624	47882624	C	A	PKD1L1	c.5381G>T	NM_138295.5	NP_612152.1:p.(Gly1794Val)	NC_000007.13:g.47882624C>A	VUS	1 lab	58face64c2
10:17089531 CUBN T>C	10	17089531	17089531	T	C	CUBN	c.3211A>G	NM_001081.4	NP_001072.2:p.(Asn1071Asp)	NC_000010.10:g.17089531T>C	VUS	1 lab	58fb7d43a0
7:140534519 BRAF G>A	7	140534519	140534519	G	A	BRAF	c.394C>T	NM_004333.6	NP_004324.2:p.(Pro132Ser)	NC_000007.13:g.140534519G>A	VUS	1 lab	58fedebba2
6:42934500 PEX6 C>T	6	42934500	42934500	C	T	PEX6	c.1961+20G>A	NM_000287.4	NP_000278.3:p.?	NC_000006.11:g.42934500C>T	(Likely) benign	1 lab	58fff22b49
18:77193626 NFATC1 C>T	18	77193626	77193626	C	T	NFATC1	c.1274C>T	NM_001278669.2	NP_001265598.1:p.(Pro425Leu)	NC_000018.9:g.77193626C>T	VUS	1 lab	5900a90ec0
12:46233253 ARID2 C>G	12	46233253	46233253	C	G	ARID2	c.1472C>G	NM_152641.4	NP_689854.2:p.(Thr491Ser)	NC_000012.11:g.46233253C>G	(Likely) benign	1 lab	590540f795
5:125929000 ALDH7A1 A>AACAC	5	125929000	125929036	A	AACAC	ALDH7A1	c.246+39_246+42dup	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929033_125929036dup	(Likely) benign	1 lab	5909642946
2:109352175 RANBP2 G>A	2	109352175	109352175	G	A	RANBP2	c.593G>A	NM_006267.5	NP_006258.3:p.(Arg198His)	NC_000002.11:g.109352175G>A	VUS	1 lab	590a5df4ff
1:152327157 FLG2 GTATT>G	1	152327157	152327161	GTATT	G	FLG2	c.3101_3104del	NM_001014342.3	NP_001014364.1:p.(Gln1034ProfsTer192)	NC_000001.10:g.152327158_152327161del	VUS	1 lab	590cc3af4a
15:57921912 MYZAP G>A	15	57921912	57921912	G	A	MYZAP	c.538G>A	NM_001018100.5	NP_001018110.1:p.(Asp180Asn)	NC_000015.9:g.57921912G>A	VUS	1 lab	590da4496b
2:179602877 TTN C>A	2	179602877	179602877	C	A	TTN	c.14303G>T	NM_001267550.2	NP_001254479.2:p.(Gly4768Val)	NC_000002.11:g.179602877C>A	VUS	1 lab	590ebbb320
7:103138597 RELN C>G	7	103138597	103138597	C	G	RELN	c.8770G>C	NM_005045.4	NP_005036.2:p.(Asp2924His)	NC_000007.13:g.103138597C>G	VUS	1 lab	590f4a4b13
5:137754733 KDM3B A>C	5	137754733	137754733	A	C	KDM3B	c.3527A>C	NM_016604.4	NP_057688.3:p.(Asp1176Ala)	NC_000005.9:g.137754733A>C	VUS	1 lab	5910dce19d
10:76735599 KAT6B G>A	10	76735599	76735599	G	A	KAT6B	c.1504G>A	NM_012330.4	NP_036462.2:p.(Gly502Ser)	NC_000010.10:g.76735599G>A	(Likely) benign	1 lab	591371e678
9:131022879 GOLGA2 C>A	9	131022879	131022879	C	A	GOLGA2	c.1506G>T	NM_004486.5	NP_004477.4:p.(Trp502Cys)	NC_000009.11:g.131022879C>A	VUS	1 lab	5914de9bbd
8:70517163 SULF1 G>T	8	70517163	70517163	G	T	SULF1	c.1373G>T	NM_001128205.2	NP_001121677.1:p.(Gly458Val)	NC_000008.10:g.70517163G>T	VUS	1 lab	59236a6bd4
6:29913001 HLA-A T>C	6	29913001	29913001	T	C	HLA-A	c.1046-10T>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29913001T>C	(Likely) benign	1 lab	592424325c
19:15366403 BRD4 G>A	19	15366403	15366403	G	A	BRD4	c.1752C>T	NM_058243.3	NP_490597.1:p.(Ser584=)	NC_000019.9:g.15366403G>A	(Likely) benign	1 lab	59250f24fc
21:19716314 TMPRSS15 A>T	21	19716314	19716314	A	T	TMPRSS15	c.1235T>A	NM_002772.3	NP_002763.3:p.(Leu412His)	NC_000021.8:g.19716314A>T	VUS	1 lab	59268424be
16:30749224 SRCAP G>C	16	30749224	30749224	G	C	SRCAP	c.7863G>C	NM_006662.3	NP_006653.2:p.(Glu2621Asp)	NC_000016.9:g.30749224G>C	VUS	1 lab	5926ae3be1
2:242688292 D2HGDH C>T	2	242688292	242688292	C	T	D2HGDH	c.854-1274C>T	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242688292C>T	(Likely) benign	1 lab	5927518507
19:17283562 MYO9B C>A	19	17283562	17283562	C	A	MYO9B	c.1936-6C>A	NM_004145.4	NP_004136.2:p.?	NC_000019.9:g.17283562C>A	(Likely) benign	1 lab	5929dfbcce
13:36049545 NBEA C>G	13	36049545	36049545	C	G	NBEA	c.6585+2872C>G	NM_015678.5	NP_056493.3:p.?	NC_000013.10:g.36049545C>G	(Likely) benign	1 lab	592a137621
17:38245666 THRA T>TC	17	38245666	38245672	T	TC	THRA	c.1196dup	NM_199334.5	NP_955366.1:p.(Leu400ThrfsTer7)	NC_000017.10:g.38245672dup	(Likely) pathogenic	1 lab	59353a8bd5
4:5758089 EVC G>C	4	5758089	5758089	G	C	EVC	c.1563G>C	NM_153717.3	NP_714928.1:p.(Gln521His)	NC_000004.11:g.5758089G>C	(Likely) pathogenic	1 lab	59355fc253
8:126079937 WASHC5 AGGC>A	8	126079937	126079941	AGGC	A	WASHC5	c.1172_1174del	NM_014846.4	NP_055661.3:p.(Arg391del)	NC_000008.10:g.126079939_126079941del	VUS	1 lab	59387fa6b7
8:144997886 PLEC G>A	8	144997886	144997886	G	A	PLEC	c.6622C>T	NM_201380.4	NP_958782.1:p.(Gln2208Ter)	NC_000008.10:g.144997886G>A	(Likely) pathogenic	1 lab	593b580eb2
1:228486154 OBSCN G>A	1	228486154	228486154	G	A	OBSCN	c.11659+3410G>A	NM_052843.4	NP_443075.3:p.?	NC_000001.10:g.228486154G>A	VUS	1 lab	5940702420
2:162280308 TBR1 C>G	2	162280308	162280308	C	G	TBR1	c.1619C>G	NM_006593.4	NP_006584.1:p.(Ala540Gly)	NC_000002.11:g.162280308C>G	VUS	1 lab	5944ee60e6
9:137657580 COL5A1 C>T	9	137657580	137657580	C	T	COL5A1	c.2088C>T	NM_000093.5	NP_000084.3:p.(Pro696=)	NC_000009.11:g.137657580C>T	(Likely) benign	1 lab	5945edea4f
2:179634388 TTN A>T	2	179634388	179634388	A	T	TTN	c.8902+18T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634388A>T	(Likely) benign	1 lab	59470e69b0
1:173703163 KLHL20 G>A	1	173703163	173703163	G	A	KLHL20	c.335G>A	NM_014458.4	NP_055273.2:p.(Arg112Gln)	NC_000001.10:g.173703163G>A	VUS	1 lab	59489f0276
3:10106532 FANCD2 C>T	3	10106532	10106532	C	T	FANCD2	c.2141C>T	NM_033084.6	NP_149075.2:p.(Pro714Leu)	NC_000003.11:g.10106532C>T	(Likely) benign	1 lab	5948f60bf3
2:179427980 TTN G>T	2	179427980	179427980	G	T	TTN	c.82879C>A	NM_001267550.2	NP_001254479.2:p.(Gln27627Lys)	NC_000002.11:g.179427980G>T	(Likely) benign	1 lab	59499c6313
9:14868735 FREM1 GACC>G	9	14868735	14868738	GACC	G	FREM1	c.234+4_234+6del	NM_144966.7	NP_659403.4:p.?	NC_000009.11:g.14868736_14868738del	(Likely) pathogenic	1 lab	5949ac5dc6
14:23886212 MYH7 A>G	14	23886212	23886212	A	G	MYH7	c.4520-11T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886212A>G	(Likely) benign	1 lab	594fe0354e
9:139403389 NOTCH1 G>A	9	139403389	139403389	G	A	NOTCH1	c.3104C>T	NM_017617.5	NP_060087.3:p.(Thr1035Ile)	NC_000009.11:g.139403389G>A	VUS	1 lab	59519d80d6
X:122459984 GRIA3 A>G	X	122459984	122459984	A	G	GRIA3	c.616A>G	NM_000828.5	NP_000819.4:p.(Ile206Val)	NC_000023.10:g.122459984A>G	VUS	1 lab	5957fd29f8
16:1503899 CLCN7 C>T	16	1503899	1503899	C	T	CLCN7	c.1154-4G>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1503899C>T	(Likely) benign	1 lab	5958eeb552
5:147480007 SPINK5 A>G	5	147480007	147480007	A	G	SPINK5	c.1093-10A>G	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147480007A>G	(Likely) benign	1 lab	595ced864b
X:153296900 MECP2 G>T	X	153296900	153296900	G	T	MECP2	c.379C>A	NM_004992.4	NP_004983.1:p.(Pro127Thr)	NC_000023.10:g.153296900G>T	(Likely) pathogenic	1 lab	595e5640c7
17:7793006 CHD3 C>T	17	7793006	7793006	C	T	CHD3	c.302C>T	NM_001005271.3	NP_001005271.2:p.(Pro101Leu)	NC_000017.10:g.7793006C>T	VUS	1 lab	5960a68387
21:45713696 AIRE G>A	21	45713696	45713696	G	A	AIRE	c.1303G>A	NM_000383.4	NP_000374.1:p.(Gly435Arg)	NC_000021.8:g.45713696G>A	VUS	1 lab	596144f442
12:53722280 SP7 G>A	12	53722280	53722280	G	A	SP7	c.946C>T	NM_001173467.3	NP_001166938.1:p.(Arg316Cys)	NC_000012.11:g.53722280G>A	(Likely) pathogenic	1 lab	5964f8c1bb
9:6604646 GLDC A>G	9	6604646	6604646	A	G	GLDC	c.1000T>C	NM_000170.3	NP_000161.2:p.(Phe334Leu)	NC_000009.11:g.6604646A>G	VUS	1 lab	598f285eb2
17:29645952 NF1 C>T	17	29645952	29645952	C	T	NF1	c.4773-6886C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29645952C>T	(Likely) benign	1 lab	5973eadf2b
9:130587052 ENG A>AGGGAGG	9	130587052	130587060	A	AGGGAGG	ENG	c.991+21_991+26dup	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130587055_130587060dup	(Likely) benign	1 lab	59769eb4e7
2:109383734 RANBP2 C>T	2	109383734	109383734	C	T	RANBP2	c.6739C>T	NM_006267.5	NP_006258.3:p.(Pro2247Ser)	NC_000002.11:g.109383734C>T	VUS	1 lab	597878d2ff
14:75746682 FOS G>T	14	75746682	75746682	G	T	FOS	c.244G>T	NM_005252.4	NP_005243.1:p.(Val82Phe)	NC_000014.8:g.75746682G>T	VUS	1 lab	5982644c50
6:29913042 HLA-A C>T	6	29913042	29913042	C	T	HLA-A	c.1077C>T	NM_002116.8	NP_002107.3:p.(Ser359=)	NC_000006.11:g.29913042C>T	(Likely) benign	1 lab	598456b7bd
10:17156151 CUBN A>G	10	17156151	17156151	A	G	CUBN	c.758T>C	NM_001081.4	NP_001072.2:p.(Phe253Ser)	NC_000010.10:g.17156151A>G	(Likely) benign	1 lab	598842487a
10:88447036 LDB3 G>A	10	88447036	88447036	G	A	LDB3	c.893+7G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88447036G>A	(Likely) benign	1 lab	598869411a
X:48369835 PORCN G>A	X	48369835	48369835	G	A	PORCN	c.76G>A	NM_001282167.2	NP_001269096.1:p.(Val26Ile)	NC_000023.10:g.48369835G>A	(Likely) benign	1 lab	598e6f5965
2:179397204 TTN G>A	2	179397204	179397204	G	A	TTN	c.104138C>T	NM_001267550.2	NP_001254479.2:p.(Pro34713Leu)	NC_000002.11:g.179397204G>A	VUS	1 lab	59921bd997
1:27089688 ARID1A G>A	1	27089688	27089688	G	A	ARID1A	c.2644G>A	NM_006015.6	NP_006006.3:p.(Gly882Arg)	NC_000001.10:g.27089688G>A	VUS	1 lab	59958a183c
7:42262898 GLI3 A>G	7	42262898	42262898	A	G	GLI3	c.-42-4T>C	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42262898A>G	(Likely) benign	1 lab	59990f2d0e
1:76365312 MSH4 C>G	1	76365312	76365312	C	G	MSH4	c.2540C>G	NM_002440.4	NP_002431.2:p.(Ala847Gly)	NC_000001.10:g.76365312C>G	VUS	1 lab	599a6f3765
7:82545307 PCLO C>G	7	82545307	82545307	C	G	PCLO	c.11995G>C	NM_033026.6	NP_149015.2:p.(Val3999Leu)	NC_000007.13:g.82545307C>G	VUS	1 lab	59aba3c207
2:72359349 CYP26B1 T>G	2	72359349	72359349	T	G	CYP26B1	c.*7A>C	NM_019885.4	NP_063938.1:p.?	NC_000002.11:g.72359349T>G	(Likely) benign	1 lab	59ac281c74
17:41209083 BRCA1 A>G	17	41209083	41209083	A	G	BRCA1	c.5263T>C	NM_007294.4	NP_009225.1:p.(Ser1755Pro)	NC_000017.10:g.41209083A>G	(Likely) pathogenic	1 lab	59b2d5d0ac
11:57381897 SERPING1 T>G	11	57381897	57381897	T	G	SERPING1	c.1346T>G	NM_000062.3	NP_000053.2:p.(Leu449Arg)	NC_000011.9:g.57381897T>G	(Likely) pathogenic	1 lab	59b35e6249
17:7454283 TNFSF12 G>A	17	7454283	7454283	G	A	TNFSF12	c.361G>A	NM_003809.3	NP_003800.1:p.(Gly121Arg)	NC_000017.10:g.7454283G>A	VUS	1 lab	59b37b00dd
22:25625554 CRYBB2 G>A	22	25625554	25625554	G	A	CRYBB2	c.449+9G>A	NM_000496.3	NP_000487.1:p.?	NC_000022.10:g.25625554G>A	(Likely) benign	1 lab	59b8b7aac3
4:1952819 NSD2 C>T	4	1952819	1952819	C	T	NSD2	c.1902C>T	NM_133330.3	NP_579877.1:p.(Asp634=)	NC_000004.11:g.1952819C>T	(Likely) benign	1 lab	59b8ef0ded
12:110783861 ATP2A2 G>A	12	110783861	110783861	G	A	ATP2A2	c.2797G>A	NM_001681.4	NP_001672.1:p.(Val933Met)	NC_000012.11:g.110783861G>A	(Likely) benign	1 lab	59b9146354
12:110777406 ATP2A2 CATTCG>C	12	110777406	110777412	CATTCG	C	ATP2A2	c.1643_1647del	NM_001681.4	NP_001672.1:p.(Ile548ArgfsTer4)	NC_000012.11:g.110777408_110777412del	VUS	1 lab	59b9eba2e2
11:125871644 CDON C>T	11	125871644	125871644	C	T	CDON	c.2128G>A	NM_016952.5	NP_058648.4:p.(Val710Ile)	NC_000011.9:g.125871644C>T	VUS	1 lab	59ba722179
1:109271497 FNDC7 C>T	1	109271497	109271497	C	T	FNDC7	c.1613C>T	NM_001144937.3	NP_001138409.1:p.(Pro538Leu)	NC_000001.10:g.109271497C>T	VUS	1 lab	59bbf98923
5:112043289 APC GA>G	5	112043289	112043290	GA	G	APC	c.-125del	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043290del	(Likely) pathogenic	1 lab	59bc58b176
10:73472882 C10orf105 C>T	10	73472882	73472882	C	T	C10orf105	c.*2811G>A	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472882C>T	(Likely) benign	1 lab	59be9eeed2
9:135202240 SETX G>A	9	135202240	135202240	G	A	SETX	c.4745C>T	NM_015046.7	NP_055861.3:p.(Pro1582Leu)	NC_000009.11:g.135202240G>A	VUS	1 lab	59bf327e6b
6:88274253 RARS2 G>T	6	88274253	88274253	G	T	RARS2	c.111-303C>A	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88274253G>T	(Likely) benign	1 lab	59bf3525a6
17:7417107 POLR2A A>G	17	7417107	7417107	A	G	POLR2A	c.5524A>G	NM_000937.5	NP_000928.1:p.(Thr1842Ala)	NC_000017.10:g.7417107A>G	VUS	1 lab	59c011480d
2:233712226 GIGYF2 CA>C	2	233712226	233712227	CA	C	GIGYF2	c.3630del	NM_001103146.3	NP_001096616.1:p.(Gln1211SerfsTer24)	NC_000002.11:g.233712227del	VUS	1 lab	59c0d71d76
11:792400 SLC25A22 G>A	11	792400	792400	G	A	SLC25A22	c.646C>T	NM_001191060.2	NP_001177989.1:p.(Arg216Cys)	NC_000011.9:g.792400G>A	VUS	1 lab	59c3498338
21:34029189 SYNJ1 A>G	21	34029189	34029189	A	G	SYNJ1	c.2603T>C	NM_203446.3	NP_982271.3:p.(Ile868Thr)	NC_000021.8:g.34029189A>G	VUS	1 lab	59c944196d
7:150697687 NOS3 G>C	7	150697687	150697687	G	C	NOS3	c.1233G>C	NM_000603.5	NP_000594.2:p.(Gln411His)	NC_000007.13:g.150697687G>C	VUS	1 lab	59cc36bac4
7:6035210 PMS2 GTC>G	7	6035210	6035213	GTC	G	PMS2	c.856_857del	NM_000535.7	NP_000526.2:p.(Asp286GlnfsTer12)	NC_000007.13:g.6035212_6035213del	(Likely) pathogenic	1 lab	59d1891c94
X:31697492 DMD C>T	X	31697492	31697492	C	T	DMD	c.7872G>A	NM_004006.3	NP_003997.2:p.(Lys2624=)	NC_000023.10:g.31697492C>T	(Likely) benign	1 lab	59d2cfef3f
18:29102095 DSG2 C>A	18	29102095	29102095	C	A	DSG2	c.573C>A	NM_001943.5	NP_001934.2:p.(Thr191=)	NC_000018.9:g.29102095C>A	(Likely) benign	1 lab	59d2f1fbe0
4:6577049 MAN2B2 G>A	4	6577049	6577049	G	A	MAN2B2	c.112G>A	NM_015274.3	NP_056089.1:p.(Asp38Asn)	NC_000004.11:g.6577049G>A	VUS	1 lab	59d7f59fcf
10:75673101 PLAU T>C	10	75673101	75673101	T	C	PLAU	c.371T>C	NM_001145031.3	NP_001138503.2:p.(Leu124Pro)	NC_000010.10:g.75673101T>C	(Likely) benign	1 lab	59dbb807b8
12:7053042 ATN1 C>T	12	7053042	7053042	C	T	ATN1				NC_000012.11:g.7053042C>T	VUS	1 lab	59e817b314
15:43548818 TGM5 A>G	15	43548818	43548818	A	G	TGM5	c.503T>C	NM_201631.4	NP_963925.2:p.(Ile168Thr)	NC_000015.9:g.43548818A>G	(Likely) pathogenic	1 lab	59ec0117cc
3:58112379 FLNB C>T	3	58112379	58112379	C	T	FLNB	c.4112C>T	NM_001457.4	NP_001448.2:p.(Ser1371Leu)	NC_000003.11:g.58112379C>T	VUS	1 lab	59ec9bd04c
6:7584993 DSP G>A	6	7584993	7584993	G	A	DSP	c.7498G>A	NM_004415.4	NP_004406.2:p.(Glu2500Lys)	NC_000006.11:g.7584993G>A	VUS	1 lab	59f020ee50
16:89597145 SPG7 GTCAGCT>G	16	89597145	89597154	GTCAGCT	G	SPG7	c.920_925del	NM_003119.4	NP_003110.1:p.(Ser307_Phe308del)	NC_000016.9:g.89597149_89597154del	VUS	1 lab	59f3755b2f
9:138671269 KCNT1 T>C	9	138671269	138671269	T	C	KCNT1	c.2794T>C	NM_020822.3	NP_065873.2:p.(Phe932Leu)	NC_000009.11:g.138671269T>C	(Likely) pathogenic	1 lab	59f69a8844
2:25059817 ADCY3 G>A	2	25059817	25059817	G	A	ADCY3	c.1631C>T	NM_004036.5	NP_004027.2:p.(Thr544Met)	NC_000002.11:g.25059817G>A	VUS	1 lab	59fa5ee592
12:121880404 KDM2B C>T	12	121880404	121880404	C	T	KDM2B	c.2840G>A	NM_032590.5	NP_115979.3:p.(Ser947Asn)	NC_000012.11:g.121880404C>T	VUS	1 lab	59ff74dd58
5:235377 SDHA G>T	5	235377	235377	G	T	SDHA	c.1183G>T	NM_004168.4	NP_004159.2:p.(Val395Phe)	NC_000005.9:g.235377G>T	VUS	1 lab	5a0094423d
17:10438590 MYH2 C>T	17	10438590	10438590	C	T	MYH2	c.2062+5G>A	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10438590C>T	VUS	1 lab	5a04e4ea97
13:32906673 BRCA2 C>T	13	32906673	32906673	C	T	BRCA2	c.1058C>T	NM_000059.4	NP_000050.3:p.(Ser353Leu)	NC_000013.10:g.32906673C>T	(Likely) benign	1 lab	5a0ae3b5ea
17:58740398 PPM1D CAT>C	17	58740398	58740403	CAT	C	PPM1D	c.1307_1308del	NM_003620.4	NP_003611.1:p.(Ile436ThrfsTer6)	NC_000017.10:g.58740402_58740403del	(Likely) pathogenic	1 lab	5a0bddc8c0
9:139327702 INPP5E G>A	9	139327702	139327702	G	A	INPP5E	c.1064C>T	NM_019892.6	NP_063945.2:p.(Thr355Met)	NC_000009.11:g.139327702G>A	(Likely) pathogenic	1 lab	5a0da2e221
2:172725301 SLC25A12 A>G	2	172725301	172725301	A	G	SLC25A12	c.99T>C	NM_003705.5	NP_003696.2:p.(Tyr33=)	NC_000002.11:g.172725301A>G	(Likely) benign	1 lab	5a0ec8b053
X:119575611 LAMP2 T>C	X	119575611	119575611	T	C	LAMP2	c.1067A>G	NM_002294.3	NP_002285.1:p.(Asn356Ser)	NC_000023.10:g.119575611T>C	VUS	1 lab	5a13c1293d
19:42489108 ATP1A3 C>T	19	42489108	42489108	C	T	ATP1A3	c.955G>A	NM_152296.5	NP_689509.1:p.(Val319Met)	NC_000019.9:g.42489108C>T	VUS	1 lab	5a14c1afa4
16:23641062 PALB2 CAG>C	16	23641062	23641066	CAG	C	PALB2	c.2411_2412del	NM_024675.4	NP_078951.2:p.(Ser804CysfsTer10)	NC_000016.9:g.23641065_23641066del	(Likely) pathogenic	1 lab	5a1b8b1008
11:62298057 AHNAK G>C	11	62298057	62298057	G	C	AHNAK	c.3832C>G	NM_001620.3	NP_001611.1:p.(Leu1278Val)	NC_000011.9:g.62298057G>C	VUS	1 lab	5a237eb9be
17:3445901 TRPV3 T>G	17	3445901	3445901	T	G	TRPV3	c.558A>C	NM_001258205.2	NP_001245134.1:p.(Ile186=)	NC_000017.10:g.3445901T>G	(Likely) benign	1 lab	5a27f4006c
4:190878654 FRG1 C>G	4	190878654	190878654	C	G	FRG1	c.534C>G	NM_004477.3	NP_004468.1:p.(Ile178Met)	NC_000004.11:g.190878654C>G	(Likely) benign	1 lab	5a2bf82d3f
16:84208294 DNAAF1 A>T	16	84208294	84208294	A	T	DNAAF1	c.1664A>T	NM_178452.6	NP_848547.4:p.(Asp555Val)	NC_000016.9:g.84208294A>T	(Likely) benign	1 lab	5a2ccb27d0
18:55238725 FECH T>C	18	55238725	55238725	T	C	FECH	c.380A>G	NM_001012515.4	NP_001012533.1:p.(Glu127Gly)	NC_000018.9:g.55238725T>C	VUS	1 lab	5a3055cd1c
22:41560067 EP300 T>C	22	41560067	41560067	T	C	EP300	c.3739T>C	NM_001429.4	NP_001420.2:p.(Cys1247Arg)	NC_000022.10:g.41560067T>C	(Likely) pathogenic	1 lab	5a38a24624
1:120510235 NOTCH2 T>C	1	120510235	120510235	T	C	NOTCH2	c.1274A>G	NM_024408.4	NP_077719.2:p.(Asn425Ser)	NC_000001.10:g.120510235T>C	VUS	1 lab	5a39a9e6ee
2:135308144 TMEM163 T>C	2	135308144	135308144	T	C	TMEM163	c.455A>G	NM_030923.5	NP_112185.1:p.(Tyr152Cys)	NC_000002.11:g.135308144T>C	VUS	1 lab	5a3aa932b4
1:36937914 CSF3R G>A	1	36937914	36937914	G	A	CSF3R	c.922C>T	NM_000760.4	NP_000751.1:p.(Arg308Cys)	NC_000001.10:g.36937914G>A	(Likely) pathogenic	1 lab	5a3cebbaaf
4:5699376 EVC2 T>C	4	5699376	5699376	T	C	EVC2	c.-12-2A>G	NM_001166136.2	NP_001159608.1:p.?	NC_000004.11:g.5699376T>C	(Likely) pathogenic	1 lab	5a40350efc
2:179576890 TTN A>G	2	179576890	179576890	A	G	TTN	c.27667T>C	NM_001267550.2	NP_001254479.2:p.(Ser9223Pro)	NC_000002.11:g.179576890A>G	VUS	1 lab	5a42569ccf
14:35871217 NFKBIA G>A	14	35871217	35871217	G	A	NFKBIA	c.*2C>T	NM_020529.3	NP_065390.1:p.?	NC_000014.8:g.35871217G>A	(Likely) benign	1 lab	5a48d726b1
13:48941648 RB1 C>T	13	48941648	48941648	C	T	RB1	c.958C>T	NM_000321.3	NP_000312.2:p.(Arg320Ter)	NC_000013.10:g.48941648C>T	(Likely) pathogenic	1 lab	5a4ad0b30c
11:17596313 OTOG G>A	11	17596313	17596313	G	A	OTOG	c.2376G>A	NM_001277269.2	NP_001264198.1:p.(Pro792=)	NC_000011.9:g.17596313G>A	(Likely) benign	1 lab	5a4bc25e8d
3:52724613 GNL3 G>A	3	52724613	52724613	G	A	GNL3	c.547G>A	NM_014366.5	NP_055181.3:p.(Val183Ile)	NC_000003.11:g.52724613G>A	VUS	1 lab	5a4bedf574
18:56586573 ZNF532 G>A	18	56586573	56586573	G	A	ZNF532	c.1054G>A	NM_018181.6	NP_060651.2:p.(Ala352Thr)	NC_000018.9:g.56586573G>A	VUS	1 lab	5a5259e6b6
3:128205018 GATA2 G>A	3	128205018	128205018	G	A	GATA2	c.423C>T	NM_032638.5	NP_116027.2:p.(Tyr141=)	NC_000003.11:g.128205018G>A	(Likely) benign	1 lab	5a566ce386
2:179402122 TTN T>G	2	179402122	179402122	T	G	TTN	c.99812A>C	NM_001267550.2	NP_001254479.2:p.(Gln33271Pro)	NC_000002.11:g.179402122T>G	VUS	1 lab	5a5bfd7dfa
9:124081162 GSN C>T	9	124081162	124081162	C	T	GSN	c.1344+4C>T	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124081162C>T	(Likely) benign	1 lab	5a5d075f8c
1:168073871 GPR161 T>C	1	168073871	168073871	T	C	GPR161	c.218A>G	NM_001349632.1	NP_001336561.1:p.(Asn73Ser)	NC_000001.10:g.168073871T>C	VUS	1 lab	5a5dfae475
16:2131753 TSC2 G>A	16	2131753	2131753	G	A	TSC2	c.3768G>A	NM_000548.5	NP_000539.2:p.(Pro1256=)	NC_000016.9:g.2131753G>A	(Likely) benign	1 lab	5a660ff65b
5:79933731 DHFR AG>A	5	79933731	79933732	AG	A	DHFR	c.339del	NM_000791.4	NP_000782.1:p.(Trp114GlyfsTer2)	NC_000005.9:g.79933732del	VUS	1 lab	5a673811d6
1:155237906 CLK2 C>T	1	155237906	155237906	C	T	CLK2	c.566G>A	NM_001294338.2	NP_001281267.1:p.(Arg189Gln)	NC_000001.10:g.155237906C>T	VUS	1 lab	5a6cc558c3
3:48625726 COL7A1 C>T	3	48625726	48625726	C	T	COL7A1	c.2699G>A	NM_000094.4	NP_000085.1:p.(Trp900Ter)	NC_000003.11:g.48625726C>T	(Likely) pathogenic	1 lab	5a70d839aa
10:90771829 FAS T>C	10	90771829	90771829	T	C	FAS	c.642T>C	NM_000043.6	NP_000034.1:p.(Thr214=)	NC_000010.10:g.90771829T>C	(Likely) benign	1 lab	5a7f480d0b
1:16254584 SPEN A>G	1	16254584	16254584	A	G	SPEN	c.1851-2A>G	NM_015001.3	NP_055816.2:p.?	NC_000001.10:g.16254584A>G	(Likely) pathogenic	1 lab	5a83a58ebe
2:179433273 TTN C>G	2	179433273	179433273	C	G	TTN	c.77586G>C	NM_001267550.2	NP_001254479.2:p.(Lys25862Asn)	NC_000002.11:g.179433273C>G	VUS	1 lab	5a8c670098
X:73962147 NEXMIF GA>G	X	73962147	73962148	GA	G	NEXMIF	c.2244del	NM_001008537.3	NP_001008537.1:p.(Leu749SerfsTer11)	NC_000023.10:g.73962148del	(Likely) pathogenic	1 lab	5a8e9eca7f
2:55130506 EML6 A>G	2	55130506	55130506	A	G	EML6	c.3278-2A>G	NM_001039753.2	NP_001034842.2:p.?	NC_000002.11:g.55130506A>G	VUS	1 lab	5a93ee09bc
15:80460400 FAH C>A	15	80460400	80460400	C	A	FAH	c.462C>A	NM_000137.4	NP_000128.1:p.(His154Gln)	NC_000015.9:g.80460400C>A	VUS	1 lab	5a94891067
13:42266010 VWA8 C>T	13	42266010	42266010	C	T	VWA8	c.3740G>A	NM_015058.2	NP_055873.1:p.(Gly1247Glu)	NC_000013.10:g.42266010C>T	VUS	1 lab	5a955eb6b1
17:48703802 CACNA1G T>C	17	48703802	48703802	T	C	CACNA1G	c.6824T>C	NM_018896.5	NP_061496.2:p.(Leu2275Pro)	NC_000017.10:g.48703802T>C	(Likely) benign	1 lab	5a95a9aa70
2:149247999 MBD5 C>G	2	149247999	149247999	C	G	MBD5	c.4099C>G	NM_018328.5	NP_060798.2:p.(Pro1367Ala)	NC_000002.11:g.149247999C>G	VUS	1 lab	5a98468439
12:49433691 KMT2D G>C	12	49433691	49433691	G	C	KMT2D	c.7862C>G	NM_003482.4	NP_003473.3:p.(Pro2621Arg)	NC_000012.11:g.49433691G>C	VUS	1 lab	5a9a792aa9
16:10995933 CIITA A>G	16	10995933	10995933	A	G	CIITA	c.520=	NM_000246.4	NP_000237.2:p.(Gly174=)	NC_000016.9:g.10995933A>G	(Likely) benign	1 lab	5a9f85149c
3:142275225 ATR A>G	3	142275225	142275225	A	G	ATR	c.2078T>C	NM_001184.4	NP_001175.2:p.(Ile693Thr)	NC_000003.11:g.142275225A>G	VUS	1 lab	5aa8eca847
18:55317648 ATP8B1 A>G	18	55317648	55317648	A	G	ATP8B1	c.3482T>C	NM_005603.6	NP_005594.2:p.(Val1161Ala)	NC_000018.9:g.55317648A>G	VUS	1 lab	5aab4eb629
18:59821843 PIGN T>C	18	59821843	59821843	T	C	PIGN	c.484A>G	NM_176787.5	NP_789744.1:p.(Lys162Glu)	NC_000018.9:g.59821843T>C	(Likely) benign	1 lab	5aaff01e3a
15:72039262 THSD4 G>A	15	72039262	72039262	G	A	THSD4	c.1042G>A	NM_001286429.2	NP_001273358.1:p.(Ala348Thr)	NC_000015.9:g.72039262G>A	VUS	1 lab	5ab3fb2293
2:149861929 KIF5C A>G	2	149861929	149861929	A	G	KIF5C	c.2396A>G	NM_004522.3	NP_004513.1:p.(His799Arg)	NC_000002.11:g.149861929A>G	VUS	1 lab	5ab98540e1
X:153420176 OPN1LW A>G	X	153420176	153420176	A	G	OPN1LW	c.706A>G	NM_020061.6	NP_064445.2:p.(Met236Val)	NC_000023.10:g.153420176A>G	(Likely) benign	1 lab	5abb57c362
14:35568477 PPP2R3C AAAG>A	14	35568477	35568488	AAAG	A	PPP2R3C	c.684_686del	NM_017917.4	NP_060387.2:p.(Phe229del)	NC_000014.8:g.35568486_35568488del	VUS	1 lab	5abcb35717
X:153134166 L1CAM T>C	X	153134166	153134166	T	C	L1CAM	c.1396A>G	NM_000425.5	NP_000416.1:p.(Thr466Ala)	NC_000023.10:g.153134166T>C	VUS	1 lab	5abce3b473
22:29083909 CHEK2 T>C	22	29083909	29083909	T	C	CHEK2	c.1608A>G	NM_007194.4	NP_009125.1:p.(Pro536=)	NC_000022.10:g.29083909T>C	(Likely) benign	1 lab	5ac17ed74c
10:92679946 ANKRD1 C>T	10	92679946	92679946	C	T	ANKRD1	c.187G>A	NM_014391.3	NP_055206.2:p.(Glu63Lys)	NC_000010.10:g.92679946C>T	VUS	1 lab	5ac6b7de7b
1:45294953 PTCH2 C>T	1	45294953	45294953	C	T	PTCH2	c.1247G>A	NM_003738.5	NP_003729.3:p.(Trp416Ter)	NC_000001.10:g.45294953C>T	VUS	1 lab	5ac7a21a42
X:49106211 CCDC22 A>G	X	49106211	49106211	A	G	CCDC22	c.1770+25A>G	NM_014008.5	NP_054727.1:p.?	NC_000023.10:g.49106211A>G	VUS	1 lab	5accf90892
X:76972719 ATRX C>T	X	76972719	76972719	C	T	ATRX	c.22G>A	NM_000489.6	NP_000480.3:p.(Glu8Lys)	NC_000023.10:g.76972719C>T	VUS	1 lab	5acda26815
12:46123836 ARID2 TA>T	12	46123836	46123843	TA	T	ARID2	c.109del	NM_152641.4	NP_689854.2:p.(Ile37SerfsTer21)	NC_000012.11:g.46123843del	(Likely) pathogenic	1 lab	5ad4f40410
2:128183720 PROC C>T	2	128183720	128183720	C	T	PROC	c.595C>T	NM_000312.4	NP_000303.1:p.(Arg199Ter)	NC_000002.11:g.128183720C>T	(Likely) pathogenic	1 lab	5ad592c75c
14:23901923 MYH7 G>A	14	23901923	23901923	G	A	MYH7	c.427C>T	NM_000257.4	NP_000248.2:p.(Arg143Trp)	NC_000014.8:g.23901923G>A	(Likely) pathogenic	1 lab	5ade78a8c9
2:1893013 MYT1L A>G	2	1893013	1893013	A	G	MYT1L	c.2520T>C	NM_001329851.3	NP_001316780.1:p.(Thr840=)	NC_000002.11:g.1893013A>G	(Likely) benign	1 lab	5ae3f418eb
14:31570520 HECTD1 G>A	14	31570520	31570520	G	A	HECTD1	c.7561C>T	NM_015382.4	NP_056197.3:p.(Leu2521=)	NC_000014.8:g.31570520G>A	(Likely) benign	1 lab	5ae65787af
18:59821796 PIGN C>G	18	59821796	59821796	C	G	PIGN	c.531G>C	NM_176787.5	NP_789744.1:p.(Trp177Cys)	NC_000018.9:g.59821796C>G	VUS	1 lab	5af3ee17e8
18:7008591 LAMA1 T>C	18	7008591	7008591	T	C	LAMA1	c.4018A>G	NM_005559.4	NP_005550.2:p.(Met1340Val)	NC_000018.9:g.7008591T>C	(Likely) benign	1 lab	5af4085368
10:104161050 NFKB2 C>T	10	104161050	104161050	C	T	NFKB2	c.2185C>T	NM_001077494.3	NP_001070962.1:p.(Arg729Trp)	NC_000010.10:g.104161050C>T	VUS	1 lab	5af523b9ba
11:64974036 CAPN1 C>T	11	64974036	64974036	C	T	CAPN1	c.1456C>T	NM_001198868.2	NP_001185797.1:p.(Arg486Cys)	NC_000011.9:g.64974036C>T	VUS	1 lab	5af7d6aa5c
16:397044 AXIN1 G>T	16	397044	397044	G	T	AXIN1	c.-19C>A	NM_003502.4	NP_003493.1:p.?	NC_000016.9:g.397044G>T	(Likely) benign	1 lab	5afba60ae8
4:6580142 MAN2B2 G>A	4	6580142	6580142	G	A	MAN2B2	c.308G>A	NM_015274.3	NP_056089.1:p.(Gly103Glu)	NC_000004.11:g.6580142G>A	VUS	1 lab	5afd38d0bb
X:32841426 DMD T>C	X	32841426	32841426	T	C	DMD	c.319A>G	NM_000109.4	NP_000100.3:p.(Ile107Val)	NC_000023.10:g.32841426T>C	VUS	1 lab	5afd92607a
4:186436042 PDLIM3 T>C	4	186436042	186436042	T	C	PDLIM3	c.333A>G	NM_001114107.5	NP_001107579.1:p.(Glu111=)	NC_000004.11:g.186436042T>C	(Likely) benign	1 lab	5affe22145
X:69247896 EDA CCT>C	X	69247896	69247898	CCT	C	EDA	c.706+11_706+12del	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69247897_69247898del	(Likely) benign	1 lab	5b05606bd6
7:83029515 SEMA3E C>A	7	83029515	83029515	C	A	SEMA3E	c.1195G>T	NM_012431.3	NP_036563.1:p.(Asp399Tyr)	NC_000007.13:g.83029515C>A	VUS	1 lab	5b05c311d6
1:225607144 LBR C>T	1	225607144	225607144	C	T	LBR	c.461G>A	NM_002296.4	NP_002287.2:p.(Ser154Asn)	NC_000001.10:g.225607144C>T	(Likely) benign	1 lab	5b138874e6
8:144997126 PLEC C>T	8	144997126	144997126	C	T	PLEC	c.7052G>A	NM_000445.5	NP_000436.2:p.(Arg2351Gln)	NC_000008.10:g.144997126C>T	VUS	1 lab	5b13bbcae7
16:89351068 ANKRD11 CT>C	16	89351068	89351071	CT	C	ANKRD11	c.1881del	NM_013275.6	NP_037407.4:p.(Val628LeufsTer25)	NC_000016.9:g.89351071del	(Likely) pathogenic	1 lab	5b160ed333
7:103197591 RELN G>T	7	103197591	103197591	G	T	RELN	c.5630C>A	NM_005045.4	NP_005036.2:p.(Ser1877Tyr)	NC_000007.13:g.103197591G>T	VUS	1 lab	5b1a703b85
10:92675984 ANKRD1 G>T	10	92675984	92675984	G	T	ANKRD1	c.595C>A	NM_014391.3	NP_055206.2:p.(Leu199Met)	NC_000010.10:g.92675984G>T	VUS	1 lab	5b1a9ec591
X:48542674 WAS G>T	X	48542674	48542674	G	T	WAS	c.135G>T	NM_000377.3	NP_000368.1:p.(Thr45=)	NC_000023.10:g.48542674G>T	(Likely) benign	1 lab	5b201ad49e
X:32509604 DMD G>A	X	32509604	32509604	G	A	DMD	c.2412C>T	NM_004006.3	NP_003997.2:p.(Ala804=)	NC_000023.10:g.32509604G>A	VUS	1 lab	5b215af972
9:131757190 NUP188 A>G	9	131757190	131757190	A	G	NUP188	c.3143A>G	NM_015354.3	NP_056169.1:p.(Tyr1048Cys)	NC_000009.11:g.131757190A>G	VUS	1 lab	5b27db6f93
2:179610992 TTN G>A	2	179610992	179610992	G	A	TTN	c.16135C>T	NM_133379.5	NP_596870.2:p.(Pro5379Ser)	NC_000002.11:g.179610992G>A	VUS	1 lab	5b32c81c10
12:110777374 ATP2A2 A>T	12	110777374	110777374	A	T	ATP2A2	c.1609A>T	NM_001681.4	NP_001672.1:p.(Thr537Ser)	NC_000012.11:g.110777374A>T	VUS	1 lab	5b369db9ae
3:49062588 IMPDH2 G>A	3	49062588	49062588	G	A	IMPDH2	c.1121C>T	NM_000884.3	NP_000875.2:p.(Ala374Val)	NC_000003.11:g.49062588G>A	VUS	1 lab	5b39256d90
6:111672922 REV3L G>A	6	111672922	111672922	G	A	REV3L	c.7023C>T	NM_001286431.2	NP_001273360.1:p.(Ala2341=)	NC_000006.11:g.111672922G>A	(Likely) benign	1 lab	5b3cb9aacd
14:23892788 MYH7 C>T	14	23892788	23892788	C	T	MYH7	c.3067G>A	NM_000257.4	NP_000248.2:p.(Ala1023Thr)	NC_000014.8:g.23892788C>T	VUS	1 lab	5b413aa5fd
13:114323997 GRK1 T>C	13	114323997	114323997	T	C	GRK1	c.700-5T>C	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114323997T>C	(Likely) benign	1 lab	5b431ceaa7
1:10689767 PEX14 C>T	1	10689767	10689767	C	T	PEX14	c.857C>T	NM_004565.3	NP_004556.1:p.(Ser286Phe)	NC_000001.10:g.10689767C>T	VUS	1 lab	5b435b4504
X:110963338 ALG13 T>C	X	110963338	110963338	T	C	ALG13	c.1032T>C	NM_001257231.2	NP_001244160.1:p.(Gly344=)	NC_000023.10:g.110963338T>C	(Likely) benign	1 lab	5b455100db
17:39742807 KRT14 C>T	17	39742807	39742807	C	T	KRT14	c.280G>A	NM_000526.5	NP_000517.3:p.(Ala94Thr)	NC_000017.10:g.39742807C>T	(Likely) benign	1 lab	5b4b2feaa9
18:21393086 LAMA3 G>C	18	21393086	21393086	G	C	LAMA3	c.1788+19G>C	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21393086G>C	(Likely) benign	1 lab	5b4b921f37
17:41833057 SOST G>C	17	41833057	41833057	G	C	SOST	c.295C>G	NM_025237.3	NP_079513.1:p.(Pro99Ala)	NC_000017.10:g.41833057G>C	VUS	1 lab	5b4e8f568b
15:89862191 POLG C>T	15	89862191	89862191	C	T	POLG	c.3244G>A	NM_002693.3	NP_002684.1:p.(Ala1082Thr)	NC_000015.9:g.89862191C>T	VUS	1 lab	5b50ab9867
X:129156905 BCORL1 G>A	X	129156905	129156905	G	A	BCORL1	c.3641G>A	NM_021946.5	NP_068765.3:p.(Arg1214His)	NC_000023.10:g.129156905G>A	VUS	1 lab	5b5100c822
12:12318172 LRP6 T>A	12	12318172	12318172	T	A	LRP6	c.1603A>T	NM_002336.3	NP_002327.2:p.(Ile535Leu)	NC_000012.11:g.12318172T>A	VUS	1 lab	5b548633db
17:42992592 GFAP C>T	17	42992592	42992592	C	T	GFAP	c.263G>A	NM_002055.5	NP_002046.1:p.(Arg88His)	NC_000017.10:g.42992592C>T	VUS	1 lab	5b58eab64a
1:3334509 PRDM16 C>A	1	3334509	3334509	C	A	PRDM16	c.2809C>A	NM_022114.4	NP_071397.3:p.(Pro937Thr)	NC_000001.10:g.3334509C>A	(Likely) benign	1 lab	5b5c4a1e17
7:117304736 CFTR C>T	7	117304736	117304736	C	T	CFTR	c.3964-6C>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117304736C>T	(Likely) benign	1 lab	5b5ed1d5ec
5:132232860 AFF4 G>T	5	132232860	132232860	G	T	AFF4	c.1462C>A	NM_014423.4	NP_055238.1:p.(Pro488Thr)	NC_000005.9:g.132232860G>T	VUS	1 lab	5b609a3668
2:47702189 MSH2 CAAT>C	2	47702189	47702192	CAAT	C	MSH2	c.1786_1788del	NM_000251.3	NP_000242.1:p.(Asn596del)	NC_000002.11:g.47702190_47702192del	(Likely) pathogenic	1 lab	5b6312d9ec
18:21111649 NPC1 T>G	18	21111649	21111649	T	G	NPC1	c.*517A>C	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21111649T>G	VUS	1 lab	5b637184e9
8:42171916 IKBKB A>G	8	42171916	42171916	A	G	IKBKB	c.769A>G	NM_001556.3	NP_001547.1:p.(Ser257Gly)	NC_000008.10:g.42171916A>G	VUS	1 lab	5b652a37a5
13:32914484 BRCA2 CAA>C	13	32914484	32914486	CAA	C	BRCA2	c.5993_5994del	NM_000059.4	NP_000050.3:p.(Gln1998ArgfsTer4)	NC_000013.10:g.32914485_32914486del	(Likely) pathogenic	1 lab	5b67c9b9cf
15:60789673 RORA G>A	15	60789673	60789673	G	A	RORA	c.1553C>T	NM_134261.3	NP_599023.1:p.(Ala518Val)	NC_000015.9:g.60789673G>A	VUS	1 lab	5b6ec363a0
11:102495998 MMP20 T>G	11	102495998	102495998	T	G	MMP20	c.53A>C	NM_004771.4	NP_004762.2:p.(Lys18Thr)	NC_000011.9:g.102495998T>G	(Likely) benign	1 lab	5b77223430
9:32457307 RIGI C>CAGAA	9	32457307	32457311	C	CAGAA	RIGI	c.2587_2590dup	NM_014314.4	NP_055129.2:p.(Cys864PhefsTer10)	NC_000009.11:g.32457308_32457311dup	(Likely) benign	1 lab	5b797ceb3c
18:50848414 DCC T>C	18	50848414	50848414	T	C	DCC	c.2054-3T>C	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50848414T>C	(Likely) benign	1 lab	5b7b981f56
4:9982330 SLC2A9 A>G	4	9982330	9982330	A	G	SLC2A9	c.480T>C	NM_001001290.2	NP_001001290.1:p.(Leu160=)	NC_000004.11:g.9982330A>G	(Likely) benign	1 lab	5b7e29af2c
17:29533394 NF1 G>T	17	29533394	29533394	G	T	NF1	c.1392+5G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533394G>T	VUS	1 lab	5b847de31d
X:77151001 MAGT1 C>T	X	77151001	77151001	C	T	MAGT1	c.3G>A	NM_032121.5	NP_115497.4:p.(Met1?)	NC_000023.10:g.77151001C>T	VUS	1 lab	5b89875956
2:179438978 TTN C>T	2	179438978	179438978	C	T	TTN	c.71881G>A	NM_001267550.2	NP_001254479.2:p.(Val23961Ile)	NC_000002.11:g.179438978C>T	VUS	1 lab	5b8e336884
16:1500662 CLCN7 A>C	16	1500662	1500662	A	C	CLCN7	c.1453T>G	NM_001287.6	NP_001278.1:p.(Tyr485Asp)	NC_000016.9:g.1500662A>C	VUS	1 lab	5ba0749129
16:89576960 SPG7 A>G	16	89576960	89576960	A	G	SPG7	c.246A>G	NM_003119.4	NP_003110.1:p.(Gln82=)	NC_000016.9:g.89576960A>G	(Likely) benign	1 lab	5ba0942c44
17:17697093 RAI1 C>CCAGCAACAG	17	17697093	17697099	C	CCAGCAACAG	RAI1	c.836_837insACAGCAGCA	NM_030665.4	NP_109590.3:p.(Gln289_Gln291dup)	NC_000017.10:g.17697098_17697099insACAGCAGCA	VUS	1 lab	5ba139c90b
2:219745786 WNT10A G>A	2	219745786	219745786	G	A	WNT10A	c.69G>A	NM_025216.3	NP_079492.2:p.(Trp23Ter)	NC_000002.11:g.219745786G>A	(Likely) pathogenic	1 lab	5ba3beafce
1:39749772 MACF1 G>T	1	39749772	39749772	G	T	MACF1	c.965G>T	NM_012090.5	NP_036222.3:p.(Arg322Leu)	NC_000001.10:g.39749772G>T	VUS	1 lab	5ba5b982ec
6:157100212 ARID1B GGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTC>G	6	157100212	157100263	GGGCGGCGGGGCCGCGAGCCTCAGCAAGGCGGCCGCCGGCTC	G	ARID1B	c.1409_1449del	NM_001371656.1	NP_001358585.1:p.(Ala470GlyfsTer134)	NC_000006.11:g.157100223_157100263del	(Likely) pathogenic	1 lab	5bc0bac263
3:78763658 ROBO1 C>A	3	78763658	78763658	C	A	ROBO1	c.934G>T	NM_002941.4	NP_002932.1:p.(Asp312Tyr)	NC_000003.11:g.78763658C>A	VUS	1 lab	5bc7a19748
14:23883021 MYH7 C>T	14	23883021	23883021	C	T	MYH7	c.5737G>A	NM_000257.4	NP_000248.2:p.(Ala1913Thr)	NC_000014.8:g.23883021C>T	VUS	1 lab	5be237e311
16:89614451 SPG7 C>T	16	89614451	89614451	C	T	SPG7	c.1593C>T	NM_003119.4	NP_003110.1:p.(His531=)	NC_000016.9:g.89614451C>T	(Likely) benign	1 lab	5bcc0f9507
16:3707062 DNASE1 G>C	16	3707062	3707062	G	C	DNASE1	c.499G>C	NM_005223.4	NP_005214.2:p.(Asp167His)	NC_000016.9:g.3707062G>C	VUS	1 lab	5bcd1a6147
10:89690817 PTEN A>C	10	89690817	89690817	A	C	PTEN	c.224A>C	NM_000314.8	NP_000305.3:p.(His75Pro)	NC_000010.10:g.89690817A>C	VUS	1 lab	5bd0df37b2
4:151356831 LRBA C>T	4	151356831	151356831	C	T	LRBA	c.6984G>A	NM_006726.4	NP_006717.2:p.(Leu2328=)	NC_000004.11:g.151356831C>T	(Likely) benign	1 lab	5bd15a3b3c
15:56385910 RFX7 A>G	15	56385910	56385910	A	G	RFX7	c.4016T>C	NM_022841.7	NP_073752.6:p.(Ile1339Thr)	NC_000015.9:g.56385910A>G	VUS	1 lab	5bd387f1e3
15:85402524 ALPK3 G>A	15	85402524	85402524	G	A	ALPK3	c.3868G>A	NM_020778.5	NP_065829.4:p.(Gly1290Ser)	NC_000015.9:g.85402524G>A	VUS	1 lab	5bd51d6115
7:127964667 RBM28 C>T	7	127964667	127964667	C	T	RBM28	c.1284G>A	NM_018077.3	NP_060547.2:p.(Thr428=)	NC_000007.13:g.127964667C>T	(Likely) benign	1 lab	5bd57cd28e
22:29876709 NEFH TGCGCGGCGCGGTGCTGCGCCTGG>T	22	29876709	29876742	TGCGCGGCGCGGTGCTGCGCCTGG	T	NEFH	c.469_491del	NM_021076.4	NP_066554.2:p.(Val157ArgfsTer115)	NC_000022.10:g.29876720_29876742del	VUS	1 lab	5bd8204a93
8:20072437 ATP6V1B2 G>A	8	20072437	20072437	G	A	ATP6V1B2	c.1036G>A	NM_001693.4	NP_001684.2:p.(Gly346Ser)	NC_000008.10:g.20072437G>A	VUS	1 lab	5bda80230e
3:10133949 FANCD2 A>G	3	10133949	10133949	A	G	FANCD2	c.3849+13A>G	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10133949A>G	(Likely) benign	1 lab	5be2234489
19:42479812 ATP1A3 G>T	19	42479812	42479812	G	T	ATP1A3	c.2271C>A	NM_001256214.2	NP_001243143.1:p.(Asn757Lys)	NC_000019.9:g.42479812G>T	(Likely) pathogenic	1 lab	5be3086deb
7:23300372 GPNMB C>CA	7	23300372	23300376	C	CA	GPNMB	c.1002dup	NM_001005340.2	NP_001005340.1:p.(Pro335ThrfsTer13)	NC_000007.13:g.23300376dup	(Likely) pathogenic	1 lab	5be53a3044
17:46607958 HOXB1 T>A	17	46607958	46607958	T	A	HOXB1	c.309A>T	NM_002144.4	NP_002135.2:p.(Gln103His)	NC_000017.10:g.46607958T>A	(Likely) benign	1 lab	5be83f950f
22:50585572 MOV10L1 T>C	22	50585572	50585572	T	C	MOV10L1	c.2T>C	NM_001164106.1	NP_001157578.1:p.(Met1?)	NC_000022.10:g.50585572T>C	VUS	1 lab	5bec1e9f15
16:8905039 PMM2 C>T	16	8905039	8905039	C	T	PMM2	c.447+4C>T	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8905039C>T	(Likely) benign	1 lab	5beffcf401
6:158541539 SERAC1 T>A	6	158541539	158541539	T	A	SERAC1	c.1084A>T	NM_032861.4	NP_116250.3:p.(Ile362Phe)	NC_000006.11:g.158541539T>A	(Likely) benign	1 lab	5bf51eb609
22:42322291 TNFRSF13C C>T	22	42322291	42322291	C	T	TNFRSF13C	c.181G>A	NM_052945.4	NP_443177.1:p.(Glu61Lys)	NC_000022.10:g.42322291C>T	VUS	1 lab	5bf6cd64fc
12:122758635 CLIP1 CAT>C	12	122758635	122758637	CAT	C	CLIP1	c.4006_4007del	NM_002956.3	NP_002947.1:p.(Met1336ValfsTer11)	NC_000012.11:g.122758636_122758637del	VUS	1 lab	5bfa4c9f65
4:74124023 ANKRD17 G>C	4	74124023	74124023	G	C	ANKRD17	c.363C>G	NM_015574.2	NP_056389.1:p.(Asp121Glu)	NC_000004.11:g.74124023G>C	VUS	1 lab	5bfb91cf0d
14:68056880 PIGH G>C	14	68056880	68056880	G	C	PIGH	c.484C>G	NM_004569.5	NP_004560.1:p.(Pro162Ala)	NC_000014.8:g.68056880G>C	VUS	1 lab	5c0011de75
3:48608574 COL7A1 A>T	3	48608574	48608574	A	T	COL7A1	c.7124T>A	NM_000094.4	NP_000085.1:p.(Val2375Asp)	NC_000003.11:g.48608574A>T	(Likely) benign	1 lab	5c0369d37f
11:63988102 FERMT3 C>T	11	63988102	63988102	C	T	FERMT3	c.1518C>T	NM_178443.3	NP_848537.1:p.(Leu506=)	NC_000011.9:g.63988102C>T	(Likely) benign	1 lab	5c04154221
2:158617452 ACVR1 C>T	2	158617452	158617452	C	T	ACVR1	c.1204G>A	NM_001105.5	NP_001096.1:p.(Val402Ile)	NC_000002.11:g.158617452C>T	VUS	1 lab	5c067e203c
X:50376593 SHROOM4 T>C	X	50376593	50376593	T	C	SHROOM4	c.2480A>G	NM_020717.4	NP_065768.2:p.(Asp827Gly)	NC_000023.10:g.50376593T>C	VUS	1 lab	5c0c289192
12:88443061 CEP290 T>G	12	88443061	88443061	T	G	CEP290	c.7340A>C	NM_025114.4	NP_079390.3:p.(Lys2447Thr)	NC_000012.11:g.88443061T>G	VUS	1 lab	5c1825ff60
4:15529176 CC2D2A C>T	4	15529176	15529176	C	T	CC2D2A	c.1256C>T	NM_001080522.2	NP_001073991.2:p.(Pro419Leu)	NC_000004.11:g.15529176C>T	VUS	1 lab	5c1bc473eb
10:121436630 BAG3 CA>C	10	121436630	121436631	CA	C	BAG3	c.1565del	NM_004281.4	NP_004272.2:p.(Gln522ArgfsTer44)	NC_000010.10:g.121436631del	(Likely) pathogenic	1 lab	5c1efd3155
10:75397662 MYOZ1 C>A	10	75397662	75397662	C	A	MYOZ1	c.92G>T	NM_021245.4	NP_067068.1:p.(Gly31Val)	NC_000010.10:g.75397662C>A	VUS	1 lab	5c22ec3477
2:198353805 HSPD1 T>C	2	198353805	198353805	T	C	HSPD1	c.1136A>G	NM_002156.5	NP_002147.2:p.(Asp379Gly)	NC_000002.11:g.198353805T>C	VUS	1 lab	5c2313aa6d
19:19460025 MAU2 C>T	19	19460025	19460025	C	T	MAU2	c.1420C>T	NM_015329.4	NP_056144.3:p.(Arg474Cys)	NC_000019.9:g.19460025C>T	VUS	1 lab	5c2496d090
17:7579358 TP53 CG>C	17	7579358	7579360	CG	C	TP53	c.328del	NM_000546.6	NP_000537.3:p.(Arg110ValfsTer13)	NC_000017.10:g.7579360del	(Likely) pathogenic	1 lab	5c268d0059
22:19885599 TXNRD2 A>G	22	19885599	19885599	A	G	TXNRD2	c.737T>C	NM_006440.5	NP_006431.2:p.(Ile246Thr)	NC_000022.10:g.19885599A>G	VUS	1 lab	5c297f6c63
19:4816507 TICAM1 G>A	19	4816507	4816507	G	A	TICAM1	c.1883C>T	NM_182919.4	NP_891549.1:p.(Pro628Leu)	NC_000019.9:g.4816507G>A	VUS	1 lab	5c2b1cdd2a
X:107169482 MID2 A>G	X	107169482	107169482	A	G	MID2	c.1756A>G	NM_012216.4	NP_036348.2:p.(Ile586Val)	NC_000023.10:g.107169482A>G	(Likely) benign	1 lab	5c2b29509e
12:116403920 MED13L G>A	12	116403920	116403920	G	A	MED13L	c.6354C>T	NM_015335.5	NP_056150.1:p.(Pro2118=)	NC_000012.11:g.116403920G>A	(Likely) benign	1 lab	5c2cfb3df1
11:61541571 MYRF C>T	11	61541571	61541571	C	T	MYRF	c.1248C>T	NM_001127392.3	NP_001120864.1:p.(Tyr416=)	NC_000011.9:g.61541571C>T	(Likely) benign	1 lab	5c304f9b2d
14:23889448 MYH7 T>TG	14	23889448	23889449	T	TG	MYH7	c.3337-6_3337-5insC	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23889448_23889449insG	(Likely) benign	1 lab	5c31003401
5:52856504 NDUFS4 G>C	5	52856504	52856504	G	C	NDUFS4	c.12G>C	NM_002495.4	NP_002486.1:p.(Val4=)	NC_000005.9:g.52856504G>C	(Likely) benign	1 lab	5c384e3057
X:110988118 ALG13 G>T	X	110988118	110988118	G	T	ALG13	c.2918G>T	NM_001099922.3	NP_001093392.1:p.(Ser973Ile)	NC_000023.10:g.110988118G>T	VUS	1 lab	5c5138e078
16:23453802 COG7 AGC>A	16	23453802	23453804	AGC	A	COG7	c.598_599del	NM_153603.4	NP_705831.1:p.(Ala200CysfsTer13)	NC_000016.9:g.23453803_23453804del	(Likely) pathogenic	1 lab	5c530d8323
10:112570207 RBM20 C>T	10	112570207	112570207	C	T	RBM20	c.1867C>T	NM_001134363.3	NP_001127835.2:p.(Arg623Trp)	NC_000010.10:g.112570207C>T	VUS	1 lab	5c534f9d94
2:207011753 NDUFS1 A>G	2	207011753	207011753	A	G	NDUFS1	c.611T>C	NM_005006.7	NP_004997.4:p.(Met204Thr)	NC_000002.11:g.207011753A>G	(Likely) benign	1 lab	5c5a97f533
X:99657519 PCDH19 C>T	X	99657519	99657519	C	T	PCDH19	c.2616+3G>A	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99657519C>T	(Likely) benign	1 lab	5c5bc4d8fa
4:6303408 WFS1 G>A	4	6303408	6303408	G	A	WFS1	c.1886G>A	NM_006005.3	NP_005996.2:p.(Arg629Gln)	NC_000004.11:g.6303408G>A	VUS	1 lab	5c5d296ecf
17:78261730 RNF213 G>A	17	78261730	78261730	G	A	RNF213	c.378G>A	NM_001256071.3	NP_001243000.2:p.(Pro126=)	NC_000017.10:g.78261730G>A	(Likely) benign	1 lab	5c62c13384
6:152469200 SYNE1 C>T	6	152469200	152469200	C	T	SYNE1	c.24743G>A	NM_033071.5	NP_149062.2:p.(Arg8248Gln)	NC_000006.11:g.152469200C>T	(Likely) benign	1 lab	5c63d937dc
19:5111385 KDM4B GA>G	19	5111385	5111387	GA	G	KDM4B	c.1115+558del	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5111387del	(Likely) benign	1 lab	5c652be8a4
16:88717386 CYBA T>C	16	88717386	88717386	T	C	CYBA	c.36A>G	NM_000101.4	NP_000092.2:p.(Glu12=)	NC_000016.9:g.88717386T>C	(Likely) benign	1 lab	5c6caa1b10
12:49445673 KMT2D C>T	12	49445673	49445673	C	T	KMT2D	c.1793G>A	NM_003482.4	NP_003473.3:p.(Arg598His)	NC_000012.11:g.49445673C>T	(Likely) benign	1 lab	5c6d3a5f1d
2:179397077 TTN G>T	2	179397077	179397077	G	T	TTN	c.104265C>A	NM_001267550.2	NP_001254479.2:p.(Tyr34755Ter)	NC_000002.11:g.179397077G>T	(Likely) pathogenic	1 lab	5c6de2f92c
19:42797150 CIC G>A	19	42797150	42797150	G	A	CIC	c.3512G>A	NM_015125.5	NP_055940.3:p.(Arg1171Gln)	NC_000019.9:g.42797150G>A	(Likely) benign	1 lab	5c6e01195e
1:236882306 ACTN2 C>T	1	236882306	236882306	C	T	ACTN2	c.354C>T	NM_001103.4	NP_001094.1:p.(Gly118=)	NC_000001.10:g.236882306C>T	(Likely) benign	1 lab	5c6ec69c6f
20:57429040 GNAS G>A	20	57429040	57429040	G	A	GNAS	c.533G>A	NM_001077490.3	NP_001070958.1:p.(Arg178Gln)	NC_000020.10:g.57429040G>A	VUS	1 lab	5c6ffcaa5e
4:79321970 FRAS1 T>TA	4	79321970	79321971	T	TA	FRAS1	c.4059dup	NM_025074.7	NP_079350.5:p.(Gln1354ThrfsTer10)	NC_000004.11:g.79321971dup	(Likely) pathogenic	1 lab	5c751375f1
19:1390970 NDUFS7 TCCGCGCCAGC>T	19	1390970	1390989	TCCGCGCCAGC	T	NDUFS7	c.339_348del	NM_024407.5	NP_077718.3:p.(Arg115ThrfsTer3)	NC_000019.9:g.1390980_1390989del	(Likely) pathogenic	1 lab	5c759ed4a9
19:1389517 NDUFS7 C>A	19	1389517	1389517	C	A	NDUFS7	c.228+580C>A	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1389517C>A	(Likely) benign	1 lab	5c788cea26
12:124415916 DNAH10 C>G	12	124415916	124415916	C	G	DNAH10	c.12459C>G	NM_207437.3	NP_997320.2:p.(Asn4153Lys)	NC_000012.11:g.124415916C>G	VUS	1 lab	5c7a002ad9
16:30036719 TLCD3B G>A	16	30036719	30036719	G	A	TLCD3B	c.610C>T	NM_031478.6	NP_113666.2:p.(Arg204Trp)	NC_000016.9:g.30036719G>A	VUS	1 lab	5c7a183c08
9:124083636 GSN A>G	9	124083636	124083636	A	G	GSN	c.1435A>G	NM_000177.5	NP_000168.1:p.(Asn479Asp)	NC_000009.11:g.124083636A>G	VUS	1 lab	5c834b1728
21:34923959 SON A>G	21	34923959	34923959	A	G	SON	c.2422A>G	NM_138927.4	NP_620305.3:p.(Thr808Ala)	NC_000021.8:g.34923959A>G	(Likely) benign	1 lab	5c83cff418
3:171443807 PLD1 C>T	3	171443807	171443807	C	T	PLD1	c.665+1G>A	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171443807C>T	(Likely) pathogenic	1 lab	5c854402f0
7:117243684 CFTR A>G	7	117243684	117243684	A	G	CFTR	c.2756A>G	NM_000492.4	NP_000483.3:p.(Tyr919Cys)	NC_000007.13:g.117243684A>G	VUS	1 lab	5c884c174f
16:23400194 COG7 G>A	16	23400194	23400194	G	A	COG7	c.*47C>T	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23400194G>A	(Likely) benign	1 lab	5c885d80c6
12:6939698 P3H3 G>C	12	6939698	6939698	G	C	P3H3	c.833G>C	NM_014262.5	NP_055077.2:p.(Gly278Ala)	NC_000012.11:g.6939698G>C	VUS	1 lab	5c8c52ebaa
8:22864846 RHOBTB2 G>A	8	22864846	22864846	G	A	RHOBTB2	c.1154G>A	NM_001160036.2	NP_001153508.1:p.(Arg385His)	NC_000008.10:g.22864846G>A	VUS	1 lab	5c8dde6fea
8:37599307 ERLIN2 T>G	8	37599307	37599307	T	G	ERLIN2	c.207T>G	NM_001362878.2	NP_001349807.1:p.(Asp69Glu)	NC_000008.10:g.37599307T>G	VUS	1 lab	5c8f3789bf
3:52392607 DNAH1 A>G	3	52392607	52392607	A	G	DNAH1	c.4120A>G	NM_015512.5	NP_056327.4:p.(Met1374Val)	NC_000003.11:g.52392607A>G	VUS	1 lab	5c91ed9e88
4:103533207 NFKB1 G>A	4	103533207	103533207	G	A	NFKB1	c.2359G>A	NM_003998.4	NP_003989.2:p.(Asp787Asn)	NC_000004.11:g.103533207G>A	VUS	1 lab	5c96adfb94
10:115389508 NRAP G>A	10	115389508	115389508	G	A	NRAP	c.1879C>T	NM_001261463.2	NP_001248392.1:p.(Arg627Trp)	NC_000010.10:g.115389508G>A	VUS	1 lab	5c9701e146
6:152589208 SYNE1 C>G	6	152589208	152589208	C	G	SYNE1	c.18798G>C	NM_182961.4	NP_892006.3:p.(Glu6266Asp)	NC_000006.11:g.152589208C>G	(Likely) benign	1 lab	5c98d1ce14
17:41219658 BRCA1 TA>T	17	41219658	41219660	TA	T	BRCA1	c.5040del	NM_007294.4	NP_009225.1:p.(Thr1681LeufsTer9)	NC_000017.10:g.41219660del	(Likely) pathogenic	1 lab	5c99897059
5:179043160 HNRNPH1 C>A	5	179043160	179043160	C	A	HNRNPH1	c.1267G>T	NM_001257293.2	NP_001244222.1:p.(Gly423Cys)	NC_000005.9:g.179043160C>A	VUS	1 lab	5c9d414d06
1:186276189 PRG4 T>C	1	186276189	186276189	T	C	PRG4	c.1338T>C	NM_005807.6	NP_005798.3:p.(Thr446=)	NC_000001.10:g.186276189T>C	(Likely) benign	1 lab	5c9f356a1c
9:131456321 SET G>A	9	131456321	131456321	G	A	SET	c.849G>A	NM_001122821.2	NP_001116293.1:p.(Glu283=)	NC_000009.11:g.131456321G>A	VUS	1 lab	5ca1553771
1:214814824 CENPF A>G	1	214814824	214814824	A	G	CENPF	c.3143A>G	NM_016343.4	NP_057427.3:p.(Glu1048Gly)	NC_000001.10:g.214814824A>G	VUS	1 lab	5ca3902d8f
17:18881091 SACK1G G>A	17	18881091	18881091	G	A	SACK1G	c.1888C>T	NM_001039999.3	NP_001035088.2:p.(Arg630Trp)	NC_000017.10:g.18881091G>A	VUS	1 lab	5ca7411030
19:20807177 ZNF626 G>GA	19	20807177	20807178	G	GA	ZNF626	c.1505dup	NM_001076675.3	NP_001070143.1:p.(Ile503HisfsTer95)	NC_000019.9:g.20807178dup	(Likely) benign	1 lab	5ca82c610c
18:48581304 SMAD4 CA>C	18	48581304	48581305	CA	C	SMAD4	c.609del	NM_005359.6	NP_005350.1:p.(Ser204LeufsTer37)	NC_000018.9:g.48581305del	(Likely) pathogenic	1 lab	5ca9eaf5ba
2:179449218 TTN C>T	2	179449218	179449218	C	T	TTN	c.65060G>A	NM_001267550.2	NP_001254479.2:p.(Gly21687Glu)	NC_000002.11:g.179449218C>T	VUS	1 lab	5cae68a35f
16:47621585 PHKB T>G	16	47621585	47621585	T	G	PHKB	c.760T>G	NM_001031835.3	NP_001027005.1:p.(Ser254Ala)	NC_000016.9:g.47621585T>G	VUS	1 lab	5caee8e388
7:128497276 FLNC C>G	7	128497276	128497276	C	G	FLNC	c.7666C>G	NM_001458.5	NP_001449.3:p.(Pro2556Ala)	NC_000007.13:g.128497276C>G	VUS	1 lab	5cba2299a4
17:73831579 UNC13D G>A	17	73831579	73831579	G	A	UNC13D	c.1759C>T	NM_199242.3	NP_954712.1:p.(Arg587Cys)	NC_000017.10:g.73831579G>A	VUS	1 lab	5cc140155e
X:53231079 KDM5C C>T	X	53231079	53231079	C	T	KDM5C	c.1823G>A	NM_004187.5	NP_004178.2:p.(Gly608Asp)	NC_000023.10:g.53231079C>T	(Likely) pathogenic	1 lab	5cd3f534c0
2:204732714 CTLA4 A>G	2	204732714	204732714	A	G	CTLA4	c.49A>G	NM_005214.5	NP_005205.2:p.(Thr17Ala)	NC_000002.11:g.204732714A>G	(Likely) benign	1 lab	5cdc1e9ccc
22:19750759 TBX1 C>G	22	19750759	19750759	C	G	TBX1	c.411-5C>G	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19750759C>G	VUS	1 lab	5cdeb7b70c
1:11090916 MASP2 C>A	1	11090916	11090916	C	A	MASP2	c.1111G>T	NM_006610.4	NP_006601.2:p.(Asp371Tyr)	NC_000001.10:g.11090916C>A	(Likely) benign	1 lab	5cdf1e2ab2
X:68836245 EDA T>C	X	68836245	68836245	T	C	EDA	c.93T>C	NM_001399.5	NP_001390.1:p.(Pro31=)	NC_000023.10:g.68836245T>C	(Likely) benign	1 lab	5ceb8f2dad
18:2922148 LPIN2 C>T	18	2922148	2922148	C	T	LPIN2	c.2224G>A	NM_014646.2	NP_055461.1:p.(Asp742Asn)	NC_000018.9:g.2922148C>T	VUS	1 lab	60a9e4a3ac
X:73961921 NEXMIF A>T	X	73961921	73961921	A	T	NEXMIF	c.2471T>A	NM_001008537.3	NP_001008537.1:p.(Leu824Ter)	NC_000023.10:g.73961921A>T	(Likely) pathogenic	1 lab	5cf16d8e5e
7:104747140 KMT2E G>C	7	104747140	104747140	G	C	KMT2E	c.2768G>C	NM_182931.3	NP_891847.1:p.(Cys923Ser)	NC_000007.13:g.104747140G>C	VUS	1 lab	5cf5a39f9f
11:34460541 CAT T>C	11	34460541	34460541	T	C	CAT	c.-20T>C	NM_001752.4	NP_001743.1:p.?	NC_000011.9:g.34460541T>C	(Likely) benign	1 lab	5cf77394ff
3:53700449 CACNA1D A>C	3	53700449	53700449	A	C	CACNA1D	c.1003A>C	NM_000720.4	NP_000711.1:p.(Ser335Arg)	NC_000003.11:g.53700449A>C	VUS	1 lab	5d02f0d8b7
9:94538115 ROR2 C>G	9	94538115	94538115	C	G	ROR2	c.98-15G>C	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94538115C>G	(Likely) benign	1 lab	5d059b8645
8:144999669 PLEC C>T	8	144999669	144999669	C	T	PLEC	c.4839G>A	NM_201380.4	NP_958782.1:p.(Gln1613=)	NC_000008.10:g.144999669C>T	(Likely) benign	1 lab	5d06aab45e
7:21920468 DNAH11 T>G	7	21920468	21920468	T	G	DNAH11	c.12344T>G	NM_001277115.2	NP_001264044.1:p.(Ile4115Ser)	NC_000007.13:g.21920468T>G	VUS	1 lab	5d16b103a4
1:153790565 GATAD2B G>A	1	153790565	153790565	G	A	GATAD2B	c.680C>T	NM_020699.4	NP_065750.1:p.(Ser227Phe)	NC_000001.10:g.153790565G>A	VUS	1 lab	5d1e428a74
X:46359638 ZNF674 C>A	X	46359638	46359638	C	A	ZNF674	c.1386G>T	NM_001039891.3	NP_001034980.1:p.(Met462Ile)	NC_000023.10:g.46359638C>A	(Likely) benign	1 lab	5d206ad299
2:189957139 COL5A2 C>T	2	189957139	189957139	C	T	COL5A2	c.464G>A	NM_000393.5	NP_000384.2:p.(Arg155His)	NC_000002.11:g.189957139C>T	VUS	1 lab	5d218e78c4
7:117232131 CFTR AG>A	7	117232131	117232132	AG	A	CFTR	c.1911del	NM_000492.4	NP_000483.3:p.(Gln637HisfsTer26)	NC_000007.13:g.117232132del	(Likely) pathogenic	1 lab	5d2641bf23
X:153001650 ABCD1 G>A	X	153001650	153001650	G	A	ABCD1	c.1166G>A	NM_000033.4	NP_000024.2:p.(Arg389His)	NC_000023.10:g.153001650G>A	(Likely) pathogenic	1 lab	5d2bf6d2a0
X:70598781 TAF1 G>C	X	70598781	70598781	G	C	TAF1	c.1260G>C	NM_004606.5	NP_004597.3:p.(Glu420Asp)	NC_000023.10:g.70598781G>C	VUS	1 lab	5d36425d82
19:13370477 CACNA1A GC>G	19	13370477	13370479	GC	G	CACNA1A	c.4291del	NM_001127221.2	NP_001120693.1:p.(Ala1431ArgfsTer21)	NC_000019.9:g.13370479del	(Likely) pathogenic	1 lab	5d3a194e7b
2:16085623 MYCN G>T	2	16085623	16085623	G	T	MYCN	c.799G>T	NM_001293228.2	NP_001280157.1:p.(Asp267Tyr)	NC_000002.11:g.16085623G>T	VUS	1 lab	5d3c6feb7d
1:985886 AGRN G>A	1	985886	985886	G	A	AGRN	c.5056G>A	NM_198576.4	NP_940978.2:p.(Gly1686Ser)	NC_000001.10:g.985886G>A	VUS	1 lab	5d44cc0cee
18:19444589 MIB1 T>A	18	19444589	19444589	T	A	MIB1	c.2983T>A	NM_020774.4	NP_065825.1:p.(Cys995Ser)	NC_000018.9:g.19444589T>A	VUS	1 lab	5d49c9aa55
21:28338307 ADAMTS5 G>T	21	28338307	28338307	G	T	ADAMTS5	c.404C>A	NM_007038.5	NP_008969.2:p.(Thr135Lys)	NC_000021.8:g.28338307G>T	VUS	1 lab	5d4b61d95b
5:251215 SDHA C>T	5	251215	251215	C	T	SDHA	c.1660C>T	NM_004168.4	NP_004159.2:p.(Arg554Trp)	NC_000005.9:g.251215C>T	(Likely) pathogenic	1 lab	5d5ea78b61
2:230724063 TRIP12 C>A	2	230724063	230724063	C	A	TRIP12	c.326G>T	NM_004238.3	NP_004229.1:p.(Ser109Ile)	NC_000002.11:g.230724063C>A	VUS	1 lab	5d63c36b71
9:21994178 CDKN2A C>A	9	21994178	21994178	C	A	CDKN2A	c.153G>T	NM_058195.4	NP_478102.2:p.(Arg51Ser)	NC_000009.11:g.21994178C>A	VUS	1 lab	5d677930cf
2:55883317 PNPT1 G>T	2	55883317	55883317	G	T	PNPT1	c.1390C>A	NM_033109.5	NP_149100.2:p.(Arg464=)	NC_000002.11:g.55883317G>T	(Likely) benign	1 lab	5d6e7a5e9c
8:48586374 SPIDR T>C	8	48586374	48586374	T	C	SPIDR	c.1556T>C	NM_001080394.4	NP_001073863.1:p.(Leu519Pro)	NC_000008.10:g.48586374T>C	VUS	1 lab	5d71ea1866
7:146741036 CNTNAP2 G>A	7	146741036	146741036	G	A	CNTNAP2	c.440G>A	NM_014141.6	NP_054860.1:p.(Arg147Gln)	NC_000007.13:g.146741036G>A	VUS	1 lab	5d7253f4bc
7:100405111 EPHB4 A>C	7	100405111	100405111	A	C	EPHB4	c.2210T>G	NM_004444.5	NP_004435.3:p.(Val737Gly)	NC_000007.13:g.100405111A>C	VUS	1 lab	5d784b821d
2:29450541 ALK G>A	2	29450541	29450541	G	A	ALK	c.2816-3C>T	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29450541G>A	(Likely) benign	1 lab	5d7cc4962f
2:48059923 FBXO11 G>A	2	48059923	48059923	G	A	FBXO11	c.1138C>T	NM_001190274.2	NP_001177203.1:p.(Arg380Ter)	NC_000002.11:g.48059923G>A	(Likely) pathogenic	1 lab	5d80dacad2
17:39780388 KRT17 G>A	17	39780388	39780388	G	A	KRT17	c.374C>T	NM_000422.3	NP_000413.1:p.(Pro125Leu)	NC_000017.10:g.39780388G>A	(Likely) benign	1 lab	5d8a1df95a
7:117351751 CTTNBP2 G>T	7	117351751	117351751	G	T	CTTNBP2	c.4832C>A	NM_033427.3	NP_219499.1:p.(Ser1611Tyr)	NC_000007.13:g.117351751G>T	VUS	1 lab	5d8d45638c
X:79978260 BRWD3 C>T	X	79978260	79978260	C	T	BRWD3	c.1677G>A	NM_153252.5	NP_694984.5:p.(Thr559=)	NC_000023.10:g.79978260C>T	VUS	1 lab	5d961dceee
18:21501018 LAMA3 G>A	18	21501018	21501018	G	A	LAMA3	c.3216G>A	NM_000227.6	NP_000218.3:p.(Ser1072=)	NC_000018.9:g.21501018G>A	(Likely) pathogenic	1 lab	5d994f9326
15:99404064 IGF1R G>A	15	99404064	99404064	G	A	IGF1R	c.641-30490G>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99404064G>A	(Likely) benign	1 lab	5d9cdb6246
5:125890105 ALDH7A1 G>C	5	125890105	125890105	G	C	ALDH7A1	c.1094-20C>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125890105G>C	(Likely) benign	1 lab	5d9d9c88bf
9:3266243 RFX3 T>C	9	3266243	3266243	T	C	RFX3	c.1420A>G	NM_134428.3	NP_602304.1:p.(Met474Val)	NC_000009.11:g.3266243T>C	VUS	1 lab	5d9eec6834
17:41244821 BRCA1 AT>A	17	41244821	41244825	AT	A	BRCA1	c.2726del	NM_007294.4	NP_009225.1:p.(Asn909IlefsTer91)	NC_000017.10:g.41244825del	(Likely) pathogenic	1 lab	5da06bb19a
10:43606905 RET A>T	10	43606905	43606905	A	T	RET	c.1514A>T	NM_020975.6	NP_066124.1:p.(Glu505Val)	NC_000010.10:g.43606905A>T	VUS	1 lab	5da1b3da8f
9:21974760 CDKN2A C>G	9	21974760	21974760	C	G	CDKN2A	c.67G>C	NM_001195132.2	NP_001182061.1:p.(Gly23Arg)	NC_000009.11:g.21974760C>G	(Likely) pathogenic	1 lab	5da8f81201
2:109384149 RANBP2 G>C	2	109384149	109384149	G	C	RANBP2	c.7154G>C	NM_006267.5	NP_006258.3:p.(Arg2385Thr)	NC_000002.11:g.109384149G>C	VUS	1 lab	5dac8e7a05
5:33994116 AMACR A>T	5	33994116	33994116	A	T	AMACR	c.740-4509T>A	NM_014324.6	NP_055139.4:p.?	NC_000005.9:g.33994116A>T	(Likely) benign	1 lab	5db1fec295
3:158362424 GFM1 A>T	3	158362424	158362424	A	T	GFM1	c.-391A>T	NM_001374357.1	NP_001361286.1:p.?	NC_000003.11:g.158362424A>T	VUS	1 lab	5db7a8b1cf
2:179632572 TTN CTG>C	2	179632572	179632577	CTG	C	TTN	c.9383_9384del	NM_001267550.2	NP_001254479.2:p.(Thr3128SerfsTer25)	NC_000002.11:g.179632576_179632577del	(Likely) pathogenic	1 lab	5dbb0e5fd4
9:140040351 GRIN1 C>G	9	140040351	140040351	C	G	GRIN1	c.567C>G	NM_007327.4	NP_015566.1:p.(Ser189=)	NC_000009.11:g.140040351C>G	(Likely) benign	1 lab	5dbd9fe944
14:23886487 MYH7 G>A	14	23886487	23886487	G	A	MYH7	c.4394C>T	NM_000257.4	NP_000248.2:p.(Ser1465Leu)	NC_000014.8:g.23886487G>A	VUS	1 lab	5dc038bc66
6:157528429 ARID1B TTGC>T	6	157528429	157528435	TTGC	T	ARID1B	c.6407_6409del	NM_001371656.1	NP_001358585.1:p.(Leu2136del)	NC_000006.11:g.157528433_157528435del	(Likely) pathogenic	1 lab	5dc620872a
14:58738586 PSMA3 A>T	14	58738586	58738586	A	T	PSMA3	c.741A>T	NM_002788.4	NP_002779.1:p.(Glu247Asp)	NC_000014.8:g.58738586A>T	(Likely) benign	1 lab	5dcd7c21c1
2:122288570 RNU4ATAC C>CAATTTTTGGAA	2	122288570	122288583	C	CAATTTTTGGAA	RNU4ATAC	n.118_128dup	NR_023343.1		NC_000002.11:g.122288573_122288583dup	VUS	1 lab	5dd0308191
4:41749668 PHOX2B C>T	4	41749668	41749668	C	T	PHOX2B	c.242-115G>A	NM_003924.4	NP_003915.2:p.?	NC_000004.11:g.41749668C>T	(Likely) benign	1 lab	5deeb883ec
5:149676949 ARSI G>A	5	149676949	149676949	G	A	ARSI	c.1538C>T	NM_001012301.4	NP_001012301.1:p.(Pro513Leu)	NC_000005.9:g.149676949G>A	VUS	1 lab	5df02d44dc
13:32968855 BRCA2 G>T	13	32968855	32968855	G	T	BRCA2	c.9286G>T	NM_000059.4	NP_000050.3:p.(Glu3096Ter)	NC_000013.10:g.32968855G>T	(Likely) pathogenic	1 lab	5df0a86ab3
8:140998945 TRAPPC9 G>A	8	140998945	140998945	G	A	TRAPPC9	c.2799=	NM_031466.8	NP_113654.5:p.(Gly933=)	NC_000008.10:g.140998945G>A	(Likely) benign	1 lab	5df2c7d271
9:97372201 FBP1 A>G	9	97372201	97372201	A	G	FBP1	c.567+2T>C	NM_000507.4	NP_000498.2:p.?	NC_000009.11:g.97372201A>G	(Likely) pathogenic	1 lab	5dfd0b8826
2:179446272 TTN A>C	2	179446272	179446272	A	C	TTN	c.66723T>G	NM_001267550.2	NP_001254479.2:p.(Ser22241Arg)	NC_000002.11:g.179446272A>C	VUS	1 lab	5e03597409
2:228552105 SLC19A3 C>T	2	228552105	228552105	C	T	SLC19A3	c.*8G>A	NM_025243.4	NP_079519.1:p.?	NC_000002.11:g.228552105C>T	VUS	1 lab	5e03bc149b
17:63533662 AXIN2 G>C	17	63533662	63533662	G	C	AXIN2	c.1492C>G	NM_004655.4	NP_004646.3:p.(Pro498Ala)	NC_000017.10:g.63533662G>C	VUS	1 lab	5e081304c3
13:39262121 FREM2 G>T	13	39262121	39262121	G	T	FREM2	c.640G>T	NM_207361.6	NP_997244.4:p.(Glu214Ter)	NC_000013.10:g.39262121G>T	(Likely) pathogenic	1 lab	5e0892cd3f
18:57364534 CCBE1 C>A	18	57364534	57364534	C	A	CCBE1	c.41G>T	NM_133459.4	NP_597716.1:p.(Gly14Val)	NC_000018.9:g.57364534C>A	VUS	1 lab	5e0a7fc0cb
1:228345790 GJC2 C>T	1	228345790	228345790	C	T	GJC2	c.331C>T	NM_020435.4	NP_065168.2:p.(Arg111Cys)	NC_000001.10:g.228345790C>T	VUS	1 lab	5e0c53e90d
3:158306630 MLF1 T>G	3	158306630	158306630	T	G	MLF1	c.-28-3593T>G	NM_001195432.4	NP_001182361.2:p.?	NC_000003.11:g.158306630T>G	(Likely) benign	1 lab	5e0d2bf30e
19:36209047 KMT2B G>C	19	36209047	36209047	G	C	KMT2B	c.127G>C	NM_014727.3	NP_055542.1:p.(Val43Leu)	NC_000019.9:g.36209047G>C	(Likely) benign	1 lab	5e0f1bf945
12:52094978 SCN8A A>C	12	52094978	52094978	A	C	SCN8A	c.979A>C	NM_001330260.2	NP_001317189.1:p.(Ser327Arg)	NC_000012.11:g.52094978A>C	(Likely) pathogenic	1 lab	5e193ba072
1:8422814 RERE G>C	1	8422814	8422814	G	C	RERE	c.1831C>G	NM_012102.4	NP_036234.3:p.(Arg611Gly)	NC_000001.10:g.8422814G>C	VUS	1 lab	5e2538567d
10:68687938 CTNNA3 G>T	10	68687938	68687938	G	T	CTNNA3	c.1048-152656C>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68687938G>T	(Likely) benign	1 lab	5e27cad54a
11:100998623 PGR G>A	11	100998623	100998623	G	A	PGR	c.1179C>T	NM_000926.4	NP_000917.3:p.(Gly393=)	NC_000011.9:g.100998623G>A	(Likely) benign	1 lab	5e29a1b9a9
5:55149407 IL31RA T>C	5	55149407	55149407	T	C	IL31RA	c.6+12T>C	NM_001242638.2	NP_001229567.1:p.?	NC_000005.9:g.55149407T>C	(Likely) benign	1 lab	5e2adba80e
2:48132699 FBXO11 TGCTGCTGCTGCTGCGGCGGCGGCGGAG>T	2	48132699	48132736	TGCTGCTGCTGCTGCGGCGGCGGCGGAG	T	FBXO11	c.134_160del	NM_001190274.2	NP_001177203.1:p.(Pro45_Gln53del)	NC_000002.11:g.48132710_48132736del	VUS	1 lab	5e2ffa139f
3:129289665 PLXND1 C>G	3	129289665	129289665	C	G	PLXND1	c.3714G>C	NM_015103.3	NP_055918.3:p.(Glu1238Asp)	NC_000003.11:g.129289665C>G	VUS	1 lab	5e30e1832d
15:54008845 WDR72 T>C	15	54008845	54008845	T	C	WDR72	c.298A>G	NM_182758.4	NP_877435.3:p.(Met100Val)	NC_000015.9:g.54008845T>C	(Likely) benign	1 lab	5e33f4e148
19:38845441 CATSPERG C>CA	19	38845441	38845442	C	CA	CATSPERG	c.1090dup	NM_021185.5	NP_067008.3:p.(Thr364AsnfsTer6)	NC_000019.9:g.38845442dup	VUS	1 lab	5e36c65d8c
16:89345980 ANKRD11 G>A	16	89345980	89345980	G	A	ANKRD11	c.6970C>T	NM_013275.6	NP_037407.4:p.(Pro2324Ser)	NC_000016.9:g.89345980G>A	VUS	1 lab	5e3990fd11
17:70118881 SOX9 G>C	17	70118881	70118881	G	C	SOX9	c.453G>C	NM_000346.4	NP_000337.1:p.(Lys151Asn)	NC_000017.10:g.70118881G>C	(Likely) pathogenic	1 lab	5e39b3031a
1:161569419 FCGR2C C>G	1	161569419	161569419	C	G	FCGR2C	n.898-1C>G	NR_047648.1		NC_000001.10:g.161569419C>G	(Likely) benign	1 lab	5e3be31fa1
2:163174756 IFIH1 C>A	2	163174756	163174756	C	A	IFIH1	c.62G>T	NM_022168.4	NP_071451.2:p.(Arg21Met)	NC_000002.11:g.163174756C>A	VUS	1 lab	5e3ca7fbab
10:112595668 RBM20 G>A	10	112595668	112595668	G	A	RBM20	c.3616G>A	NM_001134363.3	NP_001127835.2:p.(Glu1206Lys)	NC_000010.10:g.112595668G>A	VUS	1 lab	5e401b0a99
11:67934483 KMT5B AGT>A	11	67934483	67934487	AGT	A	KMT5B	c.622_623del	NM_001300907.1	NP_001287836.1:p.(Thr208Ter)	NC_000011.9:g.67934486_67934487del	(Likely) pathogenic	1 lab	5e45c2e660
1:45297465 PTCH2 A>G	1	45297465	45297465	A	G	PTCH2	c.530T>C	NM_003738.5	NP_003729.3:p.(Ile177Thr)	NC_000001.10:g.45297465A>G	VUS	1 lab	5e4b77fa4c
1:152329307 FLG2 A>T	1	152329307	152329307	A	T	FLG2	c.955T>A	NM_001014342.3	NP_001014364.1:p.(Ser319Thr)	NC_000001.10:g.152329307A>T	(Likely) benign	1 lab	5e5174f874
21:19687498 TMPRSS15 A>G	21	19687498	19687498	A	G	TMPRSS15	c.1997T>C	NM_002772.3	NP_002763.3:p.(Leu666Pro)	NC_000021.8:g.19687498A>G	(Likely) benign	1 lab	5e55f4e2bb
11:68080214 LRP5 CGCTGCT>C	11	68080214	68080242	CGCTGCT	C	LRP5	c.55_60del	NM_002335.4	NP_002326.2:p.(Leu19_Leu20del)	NC_000011.9:g.68080237_68080242del	VUS	1 lab	5e58a1a49a
22:21346115 LZTR1 C>T	22	21346115	21346115	C	T	LZTR1	c.990C>T	NM_006767.4	NP_006758.2:p.(Ser330=)	NC_000022.10:g.21346115C>T	(Likely) benign	1 lab	5e5a84d6be
7:117175402 CFTR T>G	7	117175402	117175402	T	G	CFTR	c.680T>G	NM_000492.4	NP_000483.3:p.(Leu227Arg)	NC_000007.13:g.117175402T>G	(Likely) pathogenic	1 lab	5e5c256b3b
13:32937396 BRCA2 T>C	13	32937396	32937396	T	C	BRCA2	c.8057T>C	NM_000059.4	NP_000050.3:p.(Leu2686Pro)	NC_000013.10:g.32937396T>C	(Likely) pathogenic	1 lab	5e60bc1e0a
6:107956279 SOBP A>AGCC	6	107956279	107956300	A	AGCC	SOBP	c.2250_2252dup	NM_018013.4	NP_060483.3:p.(Pro751dup)	NC_000006.11:g.107956298_107956300dup	(Likely) benign	1 lab	5e60c7d020
X:122758529 THOC2 G>A	X	122758529	122758529	G	A	THOC2	c.3058-9C>T	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122758529G>A	(Likely) benign	1 lab	5e6353795d
18:43523275 EPG5 C>A	18	43523275	43523275	C	A	EPG5	c.1795G>T	NM_020964.3	NP_066015.2:p.(Asp599Tyr)	NC_000018.9:g.43523275C>A	VUS	1 lab	5e6a5da2ec
15:85399729 ALPK3 C>G	15	85399729	85399729	C	G	ALPK3	c.1760C>G	NM_020778.5	NP_065829.4:p.(Pro587Arg)	NC_000015.9:g.85399729C>G	VUS	1 lab	5e6dcfb5b0
2:10581971 ODC1 T>C	2	10581971	10581971	T	C	ODC1	c.998A>G	NM_002539.3	NP_002530.1:p.(His333Arg)	NC_000002.11:g.10581971T>C	VUS	1 lab	5e6ecf0ace
1:9780897 PIK3CD A>G	1	9780897	9780897	A	G	PIK3CD	c.1619A>G	NM_005026.5	NP_005017.3:p.(Glu540Gly)	NC_000001.10:g.9780897A>G	VUS	1 lab	5e71963ebd
1:21904124 ALPL CT>C	1	21904124	21904125	CT	C	ALPL	c.1559del	NM_000478.6	NP_000469.3:p.(Leu520ArgfsTer86)	NC_000001.10:g.21904125del	(Likely) pathogenic	1 lab	5e767b1705
18:3457897 TGIF1 C>T	18	3457897	3457897	C	T	TGIF1	c.778C>T	NM_173208.3	NP_775300.1:p.(Arg260Trp)	NC_000018.9:g.3457897C>T	VUS	1 lab	5e79b6fa42
12:53074020 KRT1 C>T	12	53074020	53074020	C	T	KRT1	c.113G>A	NM_006121.4	NP_006112.3:p.(Arg38His)	NC_000012.11:g.53074020C>T	VUS	1 lab	5e7ad82c40
1:162740327 DDR2 T>C	1	162740327	162740327	T	C	DDR2	c.1504+25T>C	NM_001014796.3	NP_001014796.1:p.?	NC_000001.10:g.162740327T>C	(Likely) benign	1 lab	5e7c2129f4
16:732449 STUB1 ACG>A	16	732449	732452	ACG	A	STUB1	c.658_659del	NM_001293197.2	NP_001280126.1:p.(Ala220IlefsTer4)	NC_000016.9:g.732451_732452del	VUS	1 lab	5e7c44e7b8
1:235582786 TBCE A>T	1	235582786	235582786	A	T	TBCE	c.372-2A>T	NM_003193.5	NP_003184.1:p.?	NC_000001.10:g.235582786A>T	(Likely) pathogenic	1 lab	5e7d3cd4ed
3:130659538 ATP2C1 A>G	3	130659538	130659538	A	G	ATP2C1	c.422+3A>G	NM_014382.5	NP_055197.2:p.?	NC_000003.11:g.130659538A>G	VUS	1 lab	5e7dfcd767
10:115389366 NRAP G>A	10	115389366	115389366	G	A	NRAP	c.2021C>T	NM_001261463.2	NP_001248392.1:p.(Ala674Val)	NC_000010.10:g.115389366G>A	(Likely) benign	1 lab	5e86b13e7b
5:148407577 SH3TC2 A>AT	5	148407577	148407578	A	AT	SH3TC2	c.1717dup	NM_024577.4	NP_078853.2:p.(Ile573AsnfsTer15)	NC_000005.9:g.148407578dup	(Likely) pathogenic	1 lab	5e8cd9cfea
11:108172464 ATM C>G	11	108172464	108172464	C	G	ATM	c.5267C>G	NM_000051.4	NP_000042.3:p.(Thr1756Arg)	NC_000011.9:g.108172464C>G	VUS	1 lab	5e8f29c993
X:152991285 ABCD1 GC>G	X	152991285	152991286	GC	G	ABCD1	c.565del	NM_000033.4	NP_000024.2:p.(Arg189GlyfsTer9)	NC_000023.10:g.152991286del	(Likely) pathogenic	1 lab	5e94adef1a
9:139581762 AGPAT2 C>CCAG	9	139581762	139581763	C	CCAG	AGPAT2	c.47_48insCTG	NM_006412.4	NP_006403.2:p.(Leu16_Leu17insTrp)	NC_000009.11:g.139581762_139581763insCAG	(Likely) benign	1 lab	5e97147809
1:20972133 PINK1 T>C	1	20972133	20972133	T	C	PINK1	c.1040T>C	NM_032409.3	NP_115785.1:p.(Leu347Pro)	NC_000001.10:g.20972133T>C	(Likely) pathogenic	1 lab	5e97d51acd
12:12334172 LRP6 C>T	12	12334172	12334172	C	T	LRP6	c.1178G>A	NM_002336.3	NP_002327.2:p.(Gly393Asp)	NC_000012.11:g.12334172C>T	VUS	1 lab	5e99dbf3db
1:17349180 SDHB G>A	1	17349180	17349180	G	A	SDHB	c.688C>T	NM_003000.3	NP_002991.2:p.(Arg230Cys)	NC_000001.10:g.17349180G>A	(Likely) pathogenic	1 lab	5e9b66ddfe
X:128630779 SMARCA1 C>T	X	128630779	128630779	C	T	SMARCA1	c.1574G>A	NM_003069.5	NP_003060.2:p.(Arg525His)	NC_000023.10:g.128630779C>T	VUS	1 lab	5e9b75aa15
10:81317292 SFTPA2 G>A	10	81317292	81317292	G	A	SFTPA2	c.420C>T	NM_001098668.4	NP_001092138.1:p.(Ser140=)	NC_000010.10:g.81317292G>A	(Likely) benign	1 lab	5e9d07b818
X:32509399 DMD A>C	X	32509399	32509399	A	C	DMD	c.2617T>G	NM_004006.3	NP_003997.2:p.(Cys873Gly)	NC_000023.10:g.32509399A>C	VUS	1 lab	5e9d63d640
3:98311954 CPOX G>A	3	98311954	98311954	G	A	CPOX	c.395C>T	NM_000097.7	NP_000088.3:p.(Ala132Val)	NC_000003.11:g.98311954G>A	(Likely) benign	1 lab	5e9feddd56
2:179647085 TTN T>C	2	179647085	179647085	T	C	TTN	c.3234A>G	NM_001267550.2	NP_001254479.2:p.(Glu1078=)	NC_000002.11:g.179647085T>C	(Likely) benign	1 lab	5ea11cb3d5
20:43264927 ADA C>T	20	43264927	43264927	C	T	ADA	c.36G>A	NM_000022.4	NP_000013.2:p.(Val12=)	NC_000020.10:g.43264927C>T	(Likely) benign	1 lab	5ea29d6367
12:100200263 ANKS1B C>T	12	100200263	100200263	C	T	ANKS1B	c.588G>A	NM_152788.4	NP_690001.3:p.(Thr196=)	NC_000012.11:g.100200263C>T	(Likely) benign	1 lab	5ea4f3e48f
17:38975251 KRT10 GCCGCCGCCGGAGCTT>G	17	38975251	38975286	GCCGCCGCCGGAGCTT	G	KRT10	c.1521_1535del	NM_000421.5	NP_000412.4:p.(Ser508_Gly512del)	NC_000017.10:g.38975272_38975286del	(Likely) benign	1 lab	5ea909eafe
20:35563479 SAMHD1 G>A	20	35563479	35563479	G	A	SAMHD1	c.462C>T	NM_015474.4	NP_056289.2:p.(Tyr154=)	NC_000020.10:g.35563479G>A	(Likely) benign	1 lab	5ea950c57d
X:49071930 CACNA1F C>T	X	49071930	49071930	C	T	CACNA1F	c.3343G>A	NM_005183.4	NP_005174.2:p.(Val1115Met)	NC_000023.10:g.49071930C>T	VUS	1 lab	5ea9ae3734
2:233344880 ECEL1 T>C	2	233344880	233344880	T	C	ECEL1	c.2311A>G	NM_004826.4	NP_004817.2:p.(Lys771Glu)	NC_000002.11:g.233344880T>C	(Likely) pathogenic	1 lab	5eaa1042ca
3:124952611 ZNF148 G>A	3	124952611	124952611	G	A	ZNF148	c.959C>T	NM_021964.3	NP_068799.2:p.(Thr320Met)	NC_000003.11:g.124952611G>A	(Likely) benign	1 lab	5eadf2c231
5:122506469 PRDM6 C>T	5	122506469	122506469	C	T	PRDM6	c.1163C>T	NM_001136239.4	NP_001129711.1:p.(Pro388Leu)	NC_000005.9:g.122506469C>T	(Likely) benign	1 lab	5eaeec7107
17:39780413 KRT17 G>A	17	39780413	39780413	G	A	KRT17	c.349C>T	NM_000422.3	NP_000413.1:p.(Arg117Cys)	NC_000017.10:g.39780413G>A	VUS	1 lab	5eb2482306
14:51223789 NIN C>T	14	51223789	51223789	C	T	NIN	c.3959G>A	NM_020921.4	NP_065972.4:p.(Gly1320Glu)	NC_000014.8:g.51223789C>T	(Likely) benign	1 lab	5eb56ce416
5:157158578 THG1L G>A	5	157158578	157158578	G	A	THG1L	c.130G>A	NM_017872.5	NP_060342.2:p.(Asp44Asn)	NC_000005.9:g.157158578G>A	VUS	1 lab	5ec9345a68
20:2840800 VPS16 G>C	20	2840800	2840800	G	C	VPS16	c.240+3G>C	NM_022575.4	NP_072097.2:p.?	NC_000020.10:g.2840800G>C	(Likely) pathogenic	1 lab	5ecadeda73
17:56638889 TEX14 GC>G	17	56638889	56638892	GC	G	TEX14	c.4268del	NM_198393.4	NP_938207.2:p.(Gly1423AlafsTer35)	NC_000017.10:g.56638892del	(Likely) pathogenic	1 lab	5ecc7262f4
1:216052202 USH2A G>A	1	216052202	216052202	G	A	USH2A	c.8462C>T	NM_206933.4	NP_996816.3:p.(Pro2821Leu)	NC_000001.10:g.216052202G>A	VUS	1 lab	5ed0dd925c
3:123036943 ADCY5 GGTC>G	3	123036943	123036949	GGTC	G	ADCY5	c.2275_2277del	NM_183357.3	NP_899200.1:p.(Asp759del)	NC_000003.11:g.123036947_123036949del	VUS	1 lab	5ed4d44238
3:126228410 UROC1 G>A	3	126228410	126228410	G	A	UROC1	c.351+18C>T	NM_001165974.2	NP_001159446.1:p.?	NC_000003.11:g.126228410G>A	(Likely) benign	1 lab	5ed74c2486
1:237791127 RYR2 T>C	1	237791127	237791127	T	C	RYR2	c.6187T>C	NM_001035.3	NP_001026.2:p.(Ser2063Pro)	NC_000001.10:g.237791127T>C	VUS	1 lab	5edb1f1e2c
6:32796816 TAP2 AG>A	6	32796816	32796820	AG	A	TAP2	c.1933-6del	NM_001290043.2	NP_001276972.1:p.?	NC_000006.11:g.32796820del	(Likely) benign	1 lab	5ee39157f8
X:32481667 DMD A>G	X	32481667	32481667	A	G	DMD	c.3321T>C	NM_004006.3	NP_003997.2:p.(Ser1107=)	NC_000023.10:g.32481667A>G	(Likely) benign	1 lab	5ee6a1e216
14:75746690 FOS C>T	14	75746690	75746690	C	T	FOS	c.252C>T	NM_005252.4	NP_005243.1:p.(Ser84=)	NC_000014.8:g.75746690C>T	(Likely) benign	1 lab	5ee7d81a98
5:112173884 APC C>T	5	112173884	112173884	C	T	APC	c.2593C>T	NM_000038.6	NP_000029.2:p.(Pro865Ser)	NC_000005.9:g.112173884C>T	VUS	1 lab	5ef19e4c47
8:41573267 ANK1 GCGGTGGTGGC>G	8	41573267	41573278	GCGGTGGTGGC	G	ANK1	c.1594_1603del	NM_001142446.2	NP_001135918.1:p.(Ala532ProfsTer31)	NC_000008.10:g.41573269_41573278del	(Likely) pathogenic	1 lab	5ef356611e
11:639460 DRD4 C>A	11	639460	639460	C	A	DRD4	c.313C>A	NM_000797.4	NP_000788.2:p.(Pro105Thr)	NC_000011.9:g.639460C>A	VUS	1 lab	5ef38b099a
4:158262477 GRIA2 T>G	4	158262477	158262477	T	G	GRIA2	c.1906T>G	NM_000826.6	NP_000817.5:p.(Ser636Ala)	NC_000004.11:g.158262477T>G	(Likely) pathogenic	1 lab	5ef582851d
12:56558371 SMARCC2 G>A	12	56558371	56558371	G	A	SMARCC2	c.3284C>T	NM_003075.5	NP_003066.2:p.(Ser1095Phe)	NC_000012.11:g.56558371G>A	VUS	1 lab	5ef750b123
18:46625792 DYM CA>C	18	46625792	46625793	CA	C	DYM	c.1747-1908del	NM_017653.6	NP_060123.3:p.?	NC_000018.9:g.46625793del	(Likely) benign	1 lab	5ef9ceefaf
12:133249308 POLE C>T	12	133249308	133249308	C	T	POLE	c.1591G>A	NM_006231.4	NP_006222.2:p.(Gly531Arg)	NC_000012.11:g.133249308C>T	VUS	1 lab	5efaa81c8e
1:154574422 ADAR T>G	1	154574422	154574422	T	G	ADAR	c.696A>C	NM_001111.5	NP_001102.3:p.(Arg232Ser)	NC_000001.10:g.154574422T>G	VUS	1 lab	5f00b14212
6:29910358 HLA-A C>G	6	29910358	29910358	C	G	HLA-A	c.28C>G	NM_002116.8	NP_002107.3:p.(Leu10Val)	NC_000006.11:g.29910358C>G	(Likely) benign	1 lab	5f01453c81
7:73011987 MLXIPL G>T	7	73011987	73011987	G	T	MLXIPL	c.1128C>A	NM_032951.3	NP_116569.1:p.(Phe376Leu)	NC_000007.13:g.73011987G>T	VUS	1 lab	5f02b77159
22:42610315 TCF20 T>C	22	42610315	42610315	T	C	TCF20	c.997A>G	NM_005650.4	NP_005641.1:p.(Asn333Asp)	NC_000022.10:g.42610315T>C	VUS	1 lab	5f07d71cca
19:16952586 SIN3B C>T	19	16952586	16952586	C	T	SIN3B	c.389C>T	NM_015260.4	NP_056075.1:p.(Ser130Leu)	NC_000019.9:g.16952586C>T	VUS	1 lab	5f0c2ff9a8
4:110667612 CFI A>G	4	110667612	110667612	A	G	CFI	c.1195T>C	NM_000204.5	NP_000195.3:p.(Trp399Arg)	NC_000004.11:g.110667612A>G	VUS	1 lab	5f129d7d31
18:28993501 DSG4 C>A	18	28993501	28993501	C	A	DSG4	c.3123C>A	NM_001134453.3	NP_001127925.1:p.(Pro1041=)	NC_000018.9:g.28993501C>A	(Likely) benign	1 lab	5f12e353a3
10:100179851 HPS1 T>C	10	100179851	100179851	T	C	HPS1	c.1808A>G	NM_000195.5	NP_000186.2:p.(Gln603Arg)	NC_000010.10:g.100179851T>C	(Likely) benign	1 lab	5f12e8ce9d
X:23412183 PTCHD1 C>A	X	23412183	23412183	C	A	PTCHD1	c.2548C>A	NM_173495.3	NP_775766.2:p.(Pro850Thr)	NC_000023.10:g.23412183C>A	VUS	1 lab	5f164d2a16
11:63986713 FERMT3 C>A	11	63986713	63986713	C	A	FERMT3	c.787-10C>A	NM_178443.3	NP_848537.1:p.?	NC_000011.9:g.63986713C>A	(Likely) benign	1 lab	5f17844b86
11:61539103 MYRF G>A	11	61539103	61539103	G	A	MYRF	c.872G>A	NM_001127392.3	NP_001120864.1:p.(Arg291Gln)	NC_000011.9:g.61539103G>A	VUS	1 lab	5f1830f780
12:65141538 GNS GAT>G	12	65141538	65141540	GAT	G	GNS	c.411_412del	NM_002076.4	NP_002067.1:p.(Arg137SerfsTer16)	NC_000012.11:g.65141539_65141540del	(Likely) pathogenic	1 lab	5f28ee4171
9:94486315 ROR2 C>T	9	94486315	94486315	C	T	ROR2	c.2461G>A	NM_004560.4	NP_004551.2:p.(Val821Ile)	NC_000009.11:g.94486315C>T	VUS	1 lab	5f2bb63851
17:38975292 KRT10 A>G	17	38975292	38975292	A	G	KRT10	c.1495T>C	NM_000421.5	NP_000412.4:p.(Tyr499His)	NC_000017.10:g.38975292A>G	(Likely) benign	1 lab	5f323223b3
4:123109119 BLTP1 A>G	4	123109119	123109119	A	G	BLTP1	c.697A>G	NM_015312.4	NP_056127.2:p.(Thr233Ala)	NC_000004.11:g.123109119A>G	VUS	1 lab	5f347d3a0b
11:119077145 CBL G>T	11	119077145	119077145	G	T	CBL	c.18G>T	NM_005188.4	NP_005179.2:p.(Lys6Asn)	NC_000011.9:g.119077145G>T	VUS	1 lab	5f348af987
15:43544964 TGM5 CAT>C	15	43544964	43544966	CAT	C	TGM5	c.853_854del	NM_201631.4	NP_963925.2:p.(Met285ValfsTer31)	NC_000015.9:g.43544965_43544966del	(Likely) pathogenic	1 lab	5f3a455c95
13:35517024 NBEA G>C	13	35517024	35517024	G	C	NBEA	c.67G>C	NM_015678.5	NP_056493.3:p.(Gly23Arg)	NC_000013.10:g.35517024G>C	VUS	1 lab	5f3b279a03
3:184074840 CLCN2 G>C	3	184074840	184074840	G	C	CLCN2	c.1026C>G	NM_004366.6	NP_004357.3:p.(Asn342Lys)	NC_000003.11:g.184074840G>C	VUS	1 lab	5f3b4f1c3a
1:152285252 FLG C>A	1	152285252	152285252	C	A	FLG	c.2110G>T	NM_002016.2	NP_002007.1:p.(Ala704Ser)	NC_000001.10:g.152285252C>A	VUS	1 lab	5f3dfce8cd
9:2104136 SMARCA2 G>C	9	2104136	2104136	G	C	SMARCA2	c.3259G>C	NM_003070.5	NP_003061.3:p.(Ala1087Pro)	NC_000009.11:g.2104136G>C	VUS	1 lab	5f4526547b
10:121436766 BAG3 A>G	10	121436766	121436766	A	G	BAG3	c.1700A>G	NM_004281.4	NP_004272.2:p.(Asp567Gly)	NC_000010.10:g.121436766A>G	VUS	1 lab	5f47092378
18:50734041 DCC G>A	18	50734041	50734041	G	A	DCC	c.1723-8G>A	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50734041G>A	(Likely) benign	1 lab	5f475b81c8
13:100634856 ZIC2 C>A	13	100634856	100634856	C	A	ZIC2	c.538C>A	NM_007129.5	NP_009060.2:p.(Arg180Ser)	NC_000013.10:g.100634856C>A	VUS	1 lab	5f490c414c
7:65429359 GUSB G>A	7	65429359	65429359	G	A	GUSB	c.1740C>T	NM_000181.4	NP_000172.2:p.(Tyr580=)	NC_000007.13:g.65429359G>A	(Likely) benign	1 lab	5f58b0149a
2:47656998 MSH2 A>G	2	47656998	47656998	A	G	MSH2	c.1194A>G	NM_000251.3	NP_000242.1:p.(Ala398=)	NC_000002.11:g.47656998A>G	(Likely) benign	1 lab	5f58f96f22
2:173352331 ITGA6 C>T	2	173352331	173352331	C	T	ITGA6	c.2217C>T	NM_000210.4	NP_000201.2:p.(Leu739=)	NC_000002.11:g.173352331C>T	(Likely) benign	1 lab	5f61a1d970
22:21347993 LZTR1 C>T	22	21347993	21347993	C	T	LZTR1	c.1303C>T	NM_006767.4	NP_006758.2:p.(Arg435Trp)	NC_000022.10:g.21347993C>T	VUS	1 lab	5f64792f42
15:51223009 AP4E1 C>T	15	51223009	51223009	C	T	AP4E1	c.710C>T	NM_007347.5	NP_031373.2:p.(Ser237Leu)	NC_000015.9:g.51223009C>T	VUS	1 lab	5f67c36a8b
4:120079278 MYOZ2 C>G	4	120079278	120079278	C	G	MYOZ2	c.348C>G	NM_016599.5	NP_057683.1:p.(Ser116Arg)	NC_000004.11:g.120079278C>G	VUS	1 lab	5f6a9b4cae
10:30728250 MAP3K8 A>G	10	30728250	30728250	A	G	MAP3K8	c.336+47A>G	NM_005204.4	NP_005195.2:p.?	NC_000010.10:g.30728250A>G	(Likely) benign	1 lab	5f704ca9c2
3:10085536 FANCD2 A>G	3	10085536	10085536	A	G	FANCD2	c.1122A>G	NM_033084.6	NP_149075.2:p.(Val374=)	NC_000003.11:g.10085536A>G	(Likely) benign	1 lab	5f724847b0
X:123499645 SH2D1A C>T	X	123499645	123499645	C	T	SH2D1A	c.172C>T	NM_002351.5	NP_002342.1:p.(Gln58Ter)	NC_000023.10:g.123499645C>T	(Likely) pathogenic	1 lab	5f744553d7
18:60028929 TNFRSF11A G>T	18	60028929	60028929	G	T	TNFRSF11A	c.591G>T	NM_001278268.2	NP_001265197.1:p.(Leu197Phe)	NC_000018.9:g.60028929G>T	VUS	1 lab	5f79f2c7ad
10:89685315 PTEN G>A	10	89685315	89685315	G	A	PTEN	c.209+1G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89685315G>A	(Likely) pathogenic	1 lab	5f7d6068c7
20:44640959 MMP9 G>A	20	44640959	44640959	G	A	MMP9	c.1174+7G>A	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44640959G>A	(Likely) benign	1 lab	5f8050fe46
1:156105676 LMNA T>G	1	156105676	156105676	T	G	LMNA	c.937-16T>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105676T>G	(Likely) benign	1 lab	5f809e7b5e
X:41057980 USP9X A>G	X	41057980	41057980	A	G	USP9X	c.4580A>G	NM_001039590.3	NP_001034679.2:p.(Tyr1527Cys)	NC_000023.10:g.41057980A>G	VUS	1 lab	5f818ad92d
11:2689564 KCNQ1OT1 T>C	11	2689564	2689564	T	C	KCNQ1OT1	n.31665A>G	NR_002728.3		NC_000011.9:g.2689564T>C	VUS	1 lab	5f88ed785d
3:193332724 OPA1 A>G	3	193332724	193332724	A	G	OPA1	c.245A>G	NM_130837.3	NP_570850.2:p.(Tyr82Cys)	NC_000003.11:g.193332724A>G	VUS	1 lab	5f8a75b6b3
X:48649687 GATA1 T>TGCCA	X	48649687	48649690	T	TGCCA	GATA1	c.173_174insCAGC	NM_002049.4	NP_002040.1:p.(Ala59SerfsTer10)	NC_000023.10:g.48649689_48649690insCAGC	(Likely) pathogenic	1 lab	5f8c1303bf
X:153792193 IKBKG C>T	X	153792193	153792193	C	T	IKBKG	c.1075C>T	NM_001099857.5	NP_001093327.1:p.(Arg359Trp)	NC_000023.10:g.153792193C>T	VUS	1 lab	5f8cb28534
15:57967285 MYZAP AT>A	15	57967285	57967296	AT	A	MYZAP	c.1304+30del	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57967296del	(Likely) benign	1 lab	5f931d3383
18:34298221 FHOD3 C>T	18	34298221	34298221	C	T	FHOD3	c.2435C>T	NM_025135.5	NP_079411.2:p.(Pro812Leu)	NC_000018.9:g.34298221C>T	VUS	1 lab	5f976f9788
3:38629058 SCN5A T>A	3	38629058	38629058	T	A	SCN5A	c.2269A>T	NM_198056.3	NP_932173.1:p.(Thr757Ser)	NC_000003.11:g.38629058T>A	VUS	1 lab	5f9a054607
X:149809884 MTM1 G>A	X	149809884	149809884	G	A	MTM1	c.671G>A	NM_000252.3	NP_000243.1:p.(Arg224Gln)	NC_000023.10:g.149809884G>A	VUS	1 lab	5fa777144f
1:110129420 GNAI3 A>G	1	110129420	110129420	A	G	GNAI3	c.790A>G	NM_006496.4	NP_006487.1:p.(Ile264Val)	NC_000001.10:g.110129420A>G	(Likely) benign	1 lab	5fa85b769a
X:153296116 MECP2 G>A	X	153296116	153296116	G	A	MECP2	c.1163C>T	NM_004992.4	NP_004983.1:p.(Pro388Leu)	NC_000023.10:g.153296116G>A	VUS	1 lab	5fa9376345
22:19956075 COMT G>A	22	19956075	19956075	G	A	COMT	c.632G>A	NM_000754.4	NP_000745.1:p.(Arg211Gln)	NC_000022.10:g.19956075G>A	VUS	1 lab	5faf3f047b
X:21393017 CNKSR2 T>A	X	21393017	21393017	T	A	CNKSR2	c.2T>A	NM_014927.5	NP_055742.2:p.(Met1?)	NC_000023.10:g.21393017T>A	VUS	1 lab	5fc2909d15
2:169787186 ABCB11 G>A	2	169787186	169787186	G	A	ABCB11	c.3400C>T	NM_003742.4	NP_003733.2:p.(Gln1134Ter)	NC_000002.11:g.169787186G>A	(Likely) pathogenic	1 lab	5fc323f428
2:179529185 TTN AC>A	2	179529185	179529187	AC	A	TTN	c.36280+1del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529187del	VUS	1 lab	5fc4b07db5
19:50105044 PRR12 C>G	19	50105044	50105044	C	G	PRR12	c.4642C>G	NM_020719.3	NP_065770.1:p.(Leu1548Val)	NC_000019.9:g.50105044C>G	VUS	1 lab	5fc7007de6
14:91773494 CCDC88C G>A	14	91773494	91773494	G	A	CCDC88C	c.3083C>T	NM_001080414.4	NP_001073883.2:p.(Ala1028Val)	NC_000014.8:g.91773494G>A	(Likely) benign	1 lab	5fca649860
18:25570160 CDH2 T>C	18	25570160	25570160	T	C	CDH2	c.1499A>G	NM_001792.5	NP_001783.2:p.(Asn500Ser)	NC_000018.9:g.25570160T>C	(Likely) benign	1 lab	5fcb565f3d
14:23855836 MYH6 G>T	14	23855836	23855836	G	T	MYH6	c.4651-4C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855836G>T	(Likely) benign	1 lab	5fd1f4aee5
11:47371575 MYBPC3 C>G	11	47371575	47371575	C	G	MYBPC3	c.495G>C	NM_000256.3	NP_000247.2:p.(Glu165Asp)	NC_000011.9:g.47371575C>G	VUS	1 lab	5fd7130f8c
19:11325023 DOCK6 G>C	19	11325023	11325023	G	C	DOCK6	c.4266C>G	NM_020812.4	NP_065863.2:p.(Tyr1422Ter)	NC_000019.9:g.11325023G>C	(Likely) pathogenic	1 lab	5fdb87dee0
13:103698630 SLC10A2 C>T	13	103698630	103698630	C	T	SLC10A2	c.920-20G>A	NM_000452.3	NP_000443.2:p.?	NC_000013.10:g.103698630C>T	(Likely) benign	1 lab	5fdc86c712
11:111724133 ALG9 C>T	11	111724133	111724133	C	T	ALG9	c.352G>A	NM_001077691.2	NP_001071159.1:p.(Val118Ile)	NC_000011.9:g.111724133C>T	(Likely) benign	1 lab	5fe2461f99
10:17113563 CUBN C>T	10	17113563	17113563	C	T	CUBN	c.2487G>A	NM_001081.4	NP_001072.2:p.(Ser829=)	NC_000010.10:g.17113563C>T	(Likely) benign	1 lab	5fe29f4e99
15:51827917 DMXL2 ATAGAGTCTCAGATT>A	15	51827917	51827932	ATAGAGTCTCAGATT	A	DMXL2	c.2365_2378del	NM_001174116.3	NP_001167587.1:p.(Asn789SerfsTer12)	NC_000015.9:g.51827919_51827932del	(Likely) pathogenic	1 lab	5fe8dfd036
12:99548128 ANKS1B A>G	12	99548128	99548128	A	G	ANKS1B	c.2465T>C	NM_152788.4	NP_690001.3:p.(Ile822Thr)	NC_000012.11:g.99548128A>G	VUS	1 lab	5fec8b3222
X:153296586 MECP2 C>T	X	153296586	153296586	C	T	MECP2	c.693G>A	NM_004992.4	NP_004983.1:p.(Gly231=)	NC_000023.10:g.153296586C>T	(Likely) benign	1 lab	5ff27d0506
19:39008124 RYR1 G>A	19	39008124	39008124	G	A	RYR1	c.9811G>A	NM_000540.3	NP_000531.2:p.(Glu3271Lys)	NC_000019.9:g.39008124G>A	VUS	1 lab	5ff3adb2b2
6:42627590 UBR2 C>G	6	42627590	42627590	C	G	UBR2	c.3439C>G	NM_015255.3	NP_056070.1:p.(Pro1147Ala)	NC_000006.11:g.42627590C>G	VUS	1 lab	5ff6a7c936
14:31598025 HECTD1 C>A	14	31598025	31598025	C	A	HECTD1	c.4552G>T	NM_015382.4	NP_056197.3:p.(Val1518Leu)	NC_000014.8:g.31598025C>A	VUS	1 lab	5ff77ec87c
12:56720180 PAN2 C>T	12	56720180	56720180	C	T	PAN2	c.1276G>A	NM_001127460.4	NP_001120932.2:p.(Val426Met)	NC_000012.11:g.56720180C>T	VUS	1 lab	5ffa8f35df
1:151377750 POGZ G>A	1	151377750	151377750	G	A	POGZ	c.3761C>T	NM_015100.4	NP_055915.2:p.(Pro1254Leu)	NC_000001.10:g.151377750G>A	VUS	1 lab	5ffc311acd
17:79479033 ACTG1 GC>G	17	79479033	79479035	GC	G	ACTG1	c.258del	NM_001614.5	NP_001605.1:p.(Trp86CysfsTer20)	NC_000017.10:g.79479035del	VUS	1 lab	5ffe9a7198
19:50412558 NUP62 G>A	19	50412558	50412558	G	A	NUP62	c.507C>T	NM_016553.5	NP_057637.2:p.(Ser169=)	NC_000019.9:g.50412558G>A	(Likely) benign	1 lab	5fff4a3fd7
11:108121409 ATM CCTT>C	11	108121409	108121412	CCTT	C	ATM	c.1236-18_1236-16del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121410_108121412del	(Likely) benign	1 lab	652533accd
16:23546256 EARS2 G>T	16	23546256	23546256	G	T	EARS2	c.911C>A	NM_001083614.2	NP_001077083.1:p.(Pro304His)	NC_000016.9:g.23546256G>T	VUS	1 lab	6005303c44
3:58155409 FLNB G>A	3	58155409	58155409	G	A	FLNB	c.7510G>A	NM_001457.4	NP_001448.2:p.(Ala2504Thr)	NC_000003.11:g.58155409G>A	VUS	1 lab	600ba924f3
6:112496614 LAMA4 G>A	6	112496614	112496614	G	A	LAMA4	c.1258C>T	NM_001105206.3	NP_001098676.2:p.(Leu420=)	NC_000006.11:g.112496614G>A	(Likely) benign	1 lab	601d14166d
1:237730069 RYR2 C>T	1	237730069	237730069	C	T	RYR2	c.3417C>T	NM_001035.3	NP_001026.2:p.(Gly1139=)	NC_000001.10:g.237730069C>T	(Likely) benign	1 lab	601db29c1b
2:241659285 KIF1A C>T	2	241659285	241659285	C	T	KIF1A	c.4927G>A	NM_001244008.2	NP_001230937.1:p.(Asp1643Asn)	NC_000002.11:g.241659285C>T	(Likely) benign	1 lab	601ecf3996
17:4937150 SLC52A1 G>A	17	4937150	4937150	G	A	SLC52A1	c.634C>T	NM_017986.4	NP_060456.3:p.(Arg212Trp)	NC_000017.10:g.4937150G>A	(Likely) benign	1 lab	6022cdc30c
X:153219054 HCFC1 T>C	X	153219054	153219054	T	C	HCFC1	c.4497+4A>G	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153219054T>C	(Likely) benign	1 lab	6023e79b20
15:89876821 POLG C>CTGCTGT	15	89876821	89876832	C	CTGCTGT	POLG	c.159_164dup	NM_002693.3	NP_002684.1:p.(Gln54_Gln55dup)	NC_000015.9:g.89876827_89876832dup	(Likely) benign	1 lab	60265a0cde
2:145156612 ZEB2 C>T	2	145156612	145156612	C	T	ZEB2	c.2142G>A	NM_014795.4	NP_055610.1:p.(Pro714=)	NC_000002.11:g.145156612C>T	(Likely) benign	1 lab	602765d00b
5:112175916 APC C>G	5	112175916	112175916	C	G	APC	c.4625C>G	NM_000038.6	NP_000029.2:p.(Pro1542Arg)	NC_000005.9:g.112175916C>G	VUS	1 lab	6028470914
17:17700938 RAI1 G>A	17	17700938	17700938	G	A	RAI1	c.4676G>A	NM_030665.4	NP_109590.3:p.(Arg1559Gln)	NC_000017.10:g.17700938G>A	(Likely) benign	1 lab	602f4d29aa
3:58139108 FLNB A>G	3	58139108	58139108	A	G	FLNB	c.6374A>G	NM_001457.4	NP_001448.2:p.(Asn2125Ser)	NC_000003.11:g.58139108A>G	VUS	1 lab	603303495c
14:23869457 MYH6 G>A	14	23869457	23869457	G	A	MYH6	c.1581+8C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23869457G>A	(Likely) benign	1 lab	6033238706
18:29125774 DSG2 G>A	18	29125774	29125774	G	A	DSG2	c.2425G>A	NM_001943.5	NP_001934.2:p.(Ala809Thr)	NC_000018.9:g.29125774G>A	VUS	1 lab	6035f3d36d
16:89346771 ANKRD11 G>C	16	89346771	89346771	G	C	ANKRD11	c.6179C>G	NM_013275.6	NP_037407.4:p.(Ser2060Cys)	NC_000016.9:g.89346771G>C	VUS	1 lab	60372f13af
19:11095003 SMARCA4 A>C	19	11095003	11095003	A	C	SMARCA4	c.176A>C	NM_001128849.3	NP_001122321.1:p.(Gln59Pro)	NC_000019.9:g.11095003A>C	VUS	1 lab	603d33daff
2:179401802 TTN G>A	2	179401802	179401802	G	A	TTN	c.100034C>T	NM_001267550.2	NP_001254479.2:p.(Ala33345Val)	NC_000002.11:g.179401802G>A	VUS	1 lab	6041d334aa
X:70348502 MED12 G>T	X	70348502	70348502	G	T	MED12	c.3409G>T	NM_005120.3	NP_005111.2:p.(Ala1137Ser)	NC_000023.10:g.70348502G>T	VUS	1 lab	60433fbeae
21:47821638 PCNT G>A	21	47821638	47821638	G	A	PCNT	c.4962+3G>A	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47821638G>A	(Likely) benign	1 lab	60451c4935
8:70488444 SULF1 G>A	8	70488444	70488444	G	A	SULF1	c.412G>A	NM_001128205.2	NP_001121677.1:p.(Ala138Thr)	NC_000008.10:g.70488444G>A	VUS	1 lab	60486a4624
11:117693198 FXYD2 C>T	11	117693198	117693198	C	T	FXYD2	c.65-3G>A	NM_001680.5	NP_001671.2:p.?	NC_000011.9:g.117693198C>T	(Likely) benign	1 lab	6048820f6d
X:129201336 ELF4 G>C	X	129201336	129201336	G	C	ELF4	c.1352C>G	NM_001421.4	NP_001412.1:p.(Ser451Cys)	NC_000023.10:g.129201336G>C	VUS	1 lab	6048a87c60
6:108227936 SEC63 T>C	6	108227936	108227936	T	C	SEC63	c.779A>G	NM_007214.5	NP_009145.1:p.(Tyr260Cys)	NC_000006.11:g.108227936T>C	VUS	1 lab	604f52c262
14:31583172 HECTD1 C>T	14	31583172	31583172	C	T	HECTD1	c.5767G>A	NM_015382.4	NP_056197.3:p.(Ala1923Thr)	NC_000014.8:g.31583172C>T	(Likely) benign	1 lab	6050d6f83b
1:245022081 HNRNPU C>G	1	245022081	245022081	C	G	HNRNPU	c.1180G>C	NM_031844.3	NP_114032.2:p.(Glu394Gln)	NC_000001.10:g.245022081C>G	VUS	1 lab	605404801c
12:6574061 VAMP1 A>G	12	6574061	6574061	A	G	VAMP1	c.335T>C	NM_014231.5	NP_055046.1:p.(Ile112Thr)	NC_000012.11:g.6574061A>G	VUS	1 lab	605730797b
20:40053863 CHD6 C>T	20	40053863	40053863	C	T	CHD6	c.4301G>A	NM_032221.5	NP_115597.3:p.(Arg1434Lys)	NC_000020.10:g.40053863C>T	VUS	1 lab	60583039f1
4:41749488 PHOX2B T>G	4	41749488	41749488	T	G	PHOX2B	c.307A>C	NM_003924.4	NP_003915.2:p.(Thr103Pro)	NC_000004.11:g.41749488T>G	VUS	1 lab	605842fecb
8:70476323 SULF1 G>A	8	70476323	70476323	G	A	SULF1	c.113G>A	NM_001128205.2	NP_001121677.1:p.(Arg38Gln)	NC_000008.10:g.70476323G>A	VUS	1 lab	6058f5efcf
6:32632587 HLA-DQB1 A>G	6	32632587	32632587	A	G	HLA-DQB1	c.367T>C	NM_001243961.2	NP_001230890.1:p.(Leu123=)	NC_000006.11:g.32632587A>G	(Likely) benign	1 lab	605e7363e7
10:119302937 EMX2 GGCC>G	10	119302937	119302956	GGCC	G	EMX2	c.176_178del	NM_004098.4	NP_004089.1:p.(Ala59del)	NC_000010.10:g.119302954_119302956del	(Likely) benign	1 lab	6060709def
16:67876823 THAP11 ACAGCAGCAG>A	16	67876823	67876853	ACAGCAGCAG	A	THAP11	c.388_396del	NM_020457.3	NP_065190.2:p.(Gln130_Gln132del)	NC_000016.9:g.67876845_67876853del	(Likely) benign	1 lab	6062b932bf
X:54071321 PHF8 C>T	X	54071321	54071321	C	T	PHF8	c.3G>A	NM_001184896.1	NP_001171825.1:p.(Met1?)	NC_000023.10:g.54071321C>T	(Likely) pathogenic	1 lab	606555a836
7:21678604 DNAH11 G>A	7	21678604	21678604	G	A	DNAH11	c.4865G>A	NM_001277115.2	NP_001264044.1:p.(Arg1622His)	NC_000007.13:g.21678604G>A	VUS	1 lab	6065e58080
1:160090681 ATP1A2 CCCTT>C	1	160090681	160090688	CCCTT	C	ATP1A2	c.13-11_13-8del	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160090685_160090688del	(Likely) benign	1 lab	60677dfb04
5:140953306 DIAPH1 G>A	5	140953306	140953306	G	A	DIAPH1	c.2111C>T	NM_005219.5	NP_005210.3:p.(Pro704Leu)	NC_000005.9:g.140953306G>A	VUS	1 lab	6067d98c1f
X:48759520 PQBP1 AAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGAC>A	X	48759520	48759566	AAAGTTGGACCGGAGCCATGACAAGTCGGACAGGGGCCATGAC	A	PQBP1	c.308_349del	NM_005710.2	NP_005701.1:p.(Leu103_Lys116del)	NC_000023.10:g.48759525_48759566del	VUS	1 lab	6070a5e36a
6:139694496 CITED2 TGCCGCC>T	6	139694496	139694507	TGCCGCC	T	CITED2	c.580_585del	NM_006079.5	NP_006070.2:p.(Gly194_Gly195del)	NC_000006.11:g.139694502_139694507del	(Likely) benign	1 lab	6077823040
12:116420407 MED13L C>T	12	116420407	116420407	C	T	MED13L	c.4957G>A	NM_015335.5	NP_056150.1:p.(Val1653Ile)	NC_000012.11:g.116420407C>T	VUS	1 lab	6077a7a3d8
6:110991740 CDK19 A>G	6	110991740	110991740	A	G	CDK19	c.209T>C	NM_001300960.2	NP_001287889.1:p.(Leu70Ser)	NC_000006.11:g.110991740A>G	VUS	1 lab	607e787fbf
9:140707520 EHMT1 A>T	9	140707520	140707520	A	T	EHMT1	c.2930A>T	NM_024757.5	NP_079033.4:p.(Gln977Leu)	NC_000009.11:g.140707520A>T	VUS	1 lab	607fb2b943
20:6750824 BMP2 CCTGGGCGGCGCGG>C	20	6750824	6750841	CCTGGGCGGCGCGG	C	BMP2	c.56_68del	NM_001200.4	NP_001191.1:p.(Gly19AlafsTer28)	NC_000020.10:g.6750829_6750841del	(Likely) pathogenic	1 lab	6081a59f9e
3:186502831 EIF4A2 A>G	3	186502831	186502831	A	G	EIF4A2	c.289A>G	NM_001967.4	NP_001958.2:p.(Ile97Val)	NC_000003.11:g.186502831A>G	VUS	1 lab	6085210fe0
19:10206662 ANGPTL6 T>C	19	10206662	10206662	T	C	ANGPTL6	c.578A>G	NM_031917.3	NP_114123.2:p.(Gln193Arg)	NC_000019.9:g.10206662T>C	VUS	1 lab	608575ee41
5:127641544 FBN2 C>T	5	127641544	127641544	C	T	FBN2	c.5519G>A	NM_001999.4	NP_001990.2:p.(Ser1840Asn)	NC_000005.9:g.127641544C>T	VUS	1 lab	608c97c55d
X:20194616 RPS6KA3 C>T	X	20194616	20194616	C	T	RPS6KA3	c.935G>A	NM_004586.3	NP_004577.1:p.(Gly312Asp)	NC_000023.10:g.20194616C>T	(Likely) pathogenic	1 lab	60936a9628
2:179612192 TTN C>T	2	179612192	179612192	C	T	TTN	c.14935G>A	NM_133379.5	NP_596870.2:p.(Glu4979Lys)	NC_000002.11:g.179612192C>T	VUS	1 lab	60944369f2
2:179467246 TTN G>A	2	179467246	179467246	G	A	TTN	c.54883C>T	NM_001267550.2	NP_001254479.2:p.(Pro18295Ser)	NC_000002.11:g.179467246G>A	VUS	1 lab	60950f712d
21:34922144 SON G>C	21	34922144	34922144	G	C	SON	c.607G>C	NM_138927.4	NP_620305.3:p.(Glu203Gln)	NC_000021.8:g.34922144G>C	(Likely) benign	1 lab	6096d62a7d
16:86601033 FOXC2 A>C	16	86601033	86601033	A	C	FOXC2	c.92A>C	NM_005251.3	NP_005242.1:p.(Tyr31Ser)	NC_000016.9:g.86601033A>C	VUS	1 lab	6099d84099
16:28842355 ATXN2L G>A	16	28842355	28842355	G	A	ATXN2L	c.1283G>A	NM_148416.3	NP_680782.1:p.(Arg428Lys)	NC_000016.9:g.28842355G>A	VUS	1 lab	60a8daa47d
X:22002513 SMS C>A	X	22002513	22002513	C	A	SMS	c.842C>A	NM_004595.5	NP_004586.2:p.(Pro281Gln)	NC_000023.10:g.22002513C>A	(Likely) pathogenic	1 lab	60b3339070
8:48882409 MCM4 A>T	8	48882409	48882409	A	T	MCM4	c.1226A>T	NM_005914.4	NP_005905.2:p.(Lys409Met)	NC_000008.10:g.48882409A>T	VUS	1 lab	60c75629f8
16:89345928 ANKRD11 G>A	16	89345928	89345928	G	A	ANKRD11	c.7022C>T	NM_001256182.2	NP_001243111.1:p.(Ala2341Val)	NC_000016.9:g.89345928G>A	(Likely) benign	1 lab	60d02f6dc2
2:163167398 IFIH1 G>T	2	163167398	163167398	G	T	IFIH1	c.499C>A	NM_022168.4	NP_071451.2:p.(Leu167Ile)	NC_000002.11:g.163167398G>T	VUS	1 lab	60d0b2280e
19:1912686 ADAT3 G>A	19	1912686	1912686	G	A	ADAT3	c.640G>A	NM_138422.4	NP_612431.2:p.(Val214Met)	NC_000019.9:g.1912686G>A	VUS	1 lab	60d4f6b978
2:179588666 TTN T>C	2	179588666	179588666	T	C	TTN	c.21320A>G	NM_001267550.2	NP_001254479.2:p.(Asp7107Gly)	NC_000002.11:g.179588666T>C	VUS	1 lab	60d7c79e1c
X:43552691 MAOA C>A	X	43552691	43552691	C	A	MAOA	c.-94+16C>A	NM_001270458.2	NP_001257387.1:p.?	NC_000023.10:g.43552691C>A	(Likely) benign	1 lab	60d7fffbc6
X:152956931 SLC6A8 CTG>C	X	152956931	152956935	CTG	C	SLC6A8	c.570_571del	NM_005629.4	NP_005620.1:p.(Ala191GlnfsTer10)	NC_000023.10:g.152956934_152956935del	(Likely) pathogenic	1 lab	60dc6fdc71
17:4837171 GP1BA G>A	17	4837171	4837171	G	A	GP1BA	c.1272G>A	NM_000173.7	NP_000164.5:p.(Pro424=)	NC_000017.10:g.4837171G>A	(Likely) benign	1 lab	60dd40cad5
1:150483355 ECM1 C>T	1	150483355	150483355	C	T	ECM1	c.470C>T	NM_001202858.2	NP_001189787.1:p.(Thr157Met)	NC_000001.10:g.150483355C>T	(Likely) benign	1 lab	60ddfe5597
19:39229246 CAPN12 C>G	19	39229246	39229246	C	G	CAPN12	c.772G>C	NM_144691.4	NP_653292.2:p.(Gly258Arg)	NC_000019.9:g.39229246C>G	VUS	1 lab	60def302f7
9:131380278 SPTAN1 A>G	9	131380278	131380278	A	G	SPTAN1	c.5491A>G	NM_001130438.3	NP_001123910.1:p.(Thr1831Ala)	NC_000009.11:g.131380278A>G	VUS	1 lab	60e10f35bb
4:56885620 CEP135 TACAA>T	4	56885620	56885627	TACAA	T	CEP135	c.3118_3121del	NM_025009.5	NP_079285.2:p.(Asn1040GlufsTer9)	NC_000004.11:g.56885624_56885627del	(Likely) pathogenic	1 lab	60e396cae8
17:78184593 SGSH G>T	17	78184593	78184593	G	T	SGSH	c.1167C>A	NM_000199.5	NP_000190.1:p.(Asn389Lys)	NC_000017.10:g.78184593G>T	(Likely) pathogenic	1 lab	60e651837b
19:1650226 TCF3 C>A	19	1650226	1650226	C	A	TCF3	c.22G>T	NM_003200.5	NP_003191.1:p.(Ala8Ser)	NC_000019.9:g.1650226C>A	(Likely) benign	1 lab	60e6801c51
9:3346688 RFX3 G>C	9	3346688	3346688	G	C	RFX3	c.194C>G	NM_134428.3	NP_602304.1:p.(Thr65Ser)	NC_000009.11:g.3346688G>C	VUS	1 lab	60eb74c04b
21:32508292 TIAM1 G>A	21	32508292	32508292	G	A	TIAM1	c.3842C>T	NM_003253.3	NP_003244.2:p.(Ser1281Leu)	NC_000021.8:g.32508292G>A	VUS	1 lab	60ec2f5922
X:2876391 ARSL G>A	X	2876391	2876391	G	A	ARSL	c.109C>T	NM_000047.3	NP_000038.2:p.(Arg37Ter)	NC_000023.10:g.2876391G>A	VUS	1 lab	60ef0ca9e0
12:9020570 A2ML1 T>TTGG	12	9020570	9020574	T	TTGG	A2ML1	c.3852_3854dup	NM_144670.6	NP_653271.3:p.(Val1285dup)	NC_000012.11:g.9020572_9020574dup	VUS	1 lab	60ef1eade0
2:8936977 KIDINS220 T>C	2	8936977	8936977	T	C	KIDINS220	c.1022A>G	NM_020738.4	NP_065789.1:p.(Lys341Arg)	NC_000002.11:g.8936977T>C	(Likely) benign	1 lab	60f018ae8a
9:139438542 NOTCH1 G>C	9	139438542	139438542	G	C	NOTCH1	c.74C>G	NM_017617.5	NP_060087.3:p.(Ser25Cys)	NC_000009.11:g.139438542G>C	VUS	1 lab	60f24da00c
18:56620753 ZNF532 A>G	18	56620753	56620753	A	G	ZNF532	c.2872A>G	NM_018181.6	NP_060651.2:p.(Met958Val)	NC_000018.9:g.56620753A>G	VUS	1 lab	60f9f8456b
1:202724501 KDM5B A>G	1	202724501	202724501	A	G	KDM5B	c.1436T>C	NM_006618.5	NP_006609.3:p.(Ile479Thr)	NC_000001.10:g.202724501A>G	VUS	1 lab	6105f65d4a
20:2841203 VPS16 G>A	20	2841203	2841203	G	A	VPS16	c.478G>A	NM_022575.4	NP_072097.2:p.(Gly160Ser)	NC_000020.10:g.2841203G>A	(Likely) benign	1 lab	6107b5a63c
13:37453678 SMAD9 CCCTT>C	13	37453678	37453683	CCCTT	C	SMAD9	c.145_148del	NM_001127217.3	NP_001120689.1:p.(Lys49GlufsTer41)	NC_000013.10:g.37453680_37453683del	(Likely) pathogenic	1 lab	6109a1424b
9:34372910 MYORG G>A	9	34372910	34372910	G	A	MYORG	c.32C>T	NM_020702.5	NP_065753.2:p.(Ala11Val)	NC_000009.11:g.34372910G>A	VUS	1 lab	610a382767
10:102750621 TWNK C>T	10	102750621	102750621	C	T	TWNK	c.1593-5C>T	NM_021830.5	NP_068602.2:p.?	NC_000010.10:g.102750621C>T	(Likely) benign	1 lab	610fc21c37
22:19885573 TXNRD2 C>G	22	19885573	19885573	C	G	TXNRD2	c.763G>C	NM_006440.5	NP_006431.2:p.(Gly255Arg)	NC_000022.10:g.19885573C>G	(Likely) benign	1 lab	611117d206
12:53186088 KRT3 G>C	12	53186088	53186088	G	C	KRT3	c.1123C>G	NM_057088.3	NP_476429.2:p.(Arg375Gly)	NC_000012.11:g.53186088G>C	(Likely) benign	1 lab	6112784cf7
4:126402718 FAT4 G>A	4	126402718	126402718	G	A	FAT4	c.12641G>A	NM_024582.6	NP_078858.4:p.(Arg4214His)	NC_000004.11:g.126402718G>A	VUS	1 lab	6114bbe60a
19:1005241 GRIN3B G>T	19	1005241	1005241	G	T	GRIN3B	c.1741G>T	NM_138690.3	NP_619635.1:p.(Val581Phe)	NC_000019.9:g.1005241G>T	VUS	1 lab	6120ce7b95
17:57741355 CLTC A>G	17	57741355	57741355	A	G	CLTC	c.1533A>G	NM_001288653.2	NP_001275582.1:p.(Lys511=)	NC_000017.10:g.57741355A>G	(Likely) benign	1 lab	6121093765
X:149828896 MTM1 A>C	X	149828896	149828896	A	C	MTM1	c.1406A>C	NM_000252.3	NP_000243.1:p.(His469Pro)	NC_000023.10:g.149828896A>C	(Likely) pathogenic	1 lab	612589e0c4
19:13414660 CACNA1A G>A	19	13414660	13414660	G	A	CACNA1A	c.2028C>T	NM_001127221.2	NP_001120693.1:p.(Asp676=)	NC_000019.9:g.13414660G>A	(Likely) benign	1 lab	61265ab810
2:179425525 TTN C>T	2	179425525	179425525	C	T	TTN	c.85334G>A	NM_001267550.2	NP_001254479.2:p.(Cys28445Tyr)	NC_000002.11:g.179425525C>T	VUS	1 lab	6128688000
2:44209591 LRPPRC AT>A	2	44209591	44209593	AT	A	LRPPRC	c.150-19del	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44209593del	(Likely) benign	1 lab	6128f1820d
8:144991046 PLEC G>A	8	144991046	144991046	G	A	PLEC	c.13024C>T	NM_000445.5	NP_000436.2:p.(Gln4342Ter)	NC_000008.10:g.144991046G>A	(Likely) pathogenic	1 lab	612b88be92
13:48937072 RB1 AC>A	13	48937072	48937073	AC	A	RB1	c.841del	NM_000321.3	NP_000312.2:p.(His281MetfsTer5)	NC_000013.10:g.48937073del	(Likely) pathogenic	1 lab	612e4d1a7b
2:44222918 LRPPRC G>C	2	44222918	44222918	G	C	LRPPRC	c.149+20C>G	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44222918G>C	(Likely) benign	1 lab	6132495241
9:131012636 DNM1 G>A	9	131012636	131012636	G	A	DNM1	c.2318+1G>A	NM_004408.4	NP_004399.2:p.?	NC_000009.11:g.131012636G>A	VUS	1 lab	6159fb5cdb
6:132179804 ENPP1 C>A	6	132179804	132179804	C	A	ENPP1	c.716-4C>A	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132179804C>A	(Likely) benign	1 lab	613a7e525f
7:107564539 LAMB1 G>A	7	107564539	107564539	G	A	LAMB1	c.5225-7C>T	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107564539G>A	(Likely) benign	1 lab	613ef954f8
6:18122612 NHLRC1 G>A	6	18122612	18122612	G	A	NHLRC1	c.226C>T	NM_198586.3	NP_940988.2:p.(Arg76Trp)	NC_000006.11:g.18122612G>A	VUS	1 lab	61428b3e49
4:1090592 RNF212 T>C	4	1090592	1090592	T	C	RNF212	c.207A>G	NM_194439.5	NP_919420.1:p.(Ile69Met)	NC_000004.11:g.1090592T>C	VUS	1 lab	6142e3bef9
8:77764333 ZFHX4 C>A	8	77764333	77764333	C	A	ZFHX4	c.5176C>A	NM_024721.5	NP_078997.4:p.(Pro1726Thr)	NC_000008.10:g.77764333C>A	(Likely) benign	1 lab	61468cf0d7
14:23884458 MYH7 G>T	14	23884458	23884458	G	T	MYH7	c.5305C>A	NM_000257.4	NP_000248.2:p.(Leu1769Met)	NC_000014.8:g.23884458G>T	VUS	1 lab	614b56eb05
11:1247507 MUC5B G>A	11	1247507	1247507	G	A	MUC5B	c.199+1G>A	NM_002458.3	NP_002449.2:p.?	NC_000011.9:g.1247507G>A	VUS	1 lab	614f82a45b
X:63409732 AMER1 G>A	X	63409732	63409732	G	A	AMER1	c.*27C>T	NM_152424.4	NP_689637.3:p.?	NC_000023.10:g.63409732G>A	VUS	1 lab	6152650dda
X:69615545 KIF4A G>A	X	69615545	69615545	G	A	KIF4A	c.2257G>A	NM_012310.5	NP_036442.3:p.(Val753Ile)	NC_000023.10:g.69615545G>A	VUS	1 lab	6154f6cd22
2:50692560 NRXN1 A>G	2	50692560	50692560	A	G	NRXN1	c.3484+20T>C	NM_001135659.3	NP_001129131.1:p.?	NC_000002.11:g.50692560A>G	(Likely) benign	1 lab	615c37b5a6
2:85890771 SFTPB T>G	2	85890771	85890771	T	G	SFTPB	c.856+16A>C	NM_000542.5	NP_000533.4:p.?	NC_000002.11:g.85890771T>G	(Likely) benign	1 lab	616804c7ba
4:108852804 CYP2U1 C>T	4	108852804	108852804	C	T	CYP2U1	c.5C>T	NM_183075.3	NP_898898.1:p.(Ser2Leu)	NC_000004.11:g.108852804C>T	VUS	1 lab	6168359b02
6:33653212 ITPR3 G>A	6	33653212	33653212	G	A	ITPR3	c.5384G>A	NM_002224.4	NP_002215.2:p.(Arg1795Gln)	NC_000006.11:g.33653212G>A	VUS	1 lab	61691148d8
2:109381971 RANBP2 A>G	2	109381971	109381971	A	G	RANBP2	c.4976A>G	NM_006267.5	NP_006258.3:p.(Glu1659Gly)	NC_000002.11:g.109381971A>G	VUS	1 lab	616b5881a1
15:28424169 HERC2 C>G	15	28424169	28424169	C	G	HERC2	c.9027G>C	NM_004667.6	NP_004658.3:p.(Val3009=)	NC_000015.9:g.28424169C>G	(Likely) benign	1 lab	616cf70f9f
14:23888416 MYH7 G>A	14	23888416	23888416	G	A	MYH7	c.3942C>T	NM_000257.4	NP_000248.2:p.(Asp1314=)	NC_000014.8:g.23888416G>A	(Likely) benign	1 lab	616f76aeb2
10:64968868 JMJD1C T>C	10	64968868	64968868	T	C	JMJD1C	c.2822A>G	NM_032776.3	NP_116165.1:p.(His941Arg)	NC_000010.10:g.64968868T>C	VUS	1 lab	616fab44a9
Y:6948856 TBL1Y G>A	Y	6948856	6948856	G	A	TBL1Y	c.1039G>A	NM_033284.2	NP_150600.1:p.(Gly347Ser)	NC_000024.9:g.6948856G>A	(Likely) benign	1 lab	617dc9fd73
11:22261227 ANO5 TTAAG>T	11	22261227	22261236	TTAAG	T	ANO5	c.878+3_878+6del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22261233_22261236del	(Likely) pathogenic	1 lab	617e59c157
1:228476389 OBSCN C>T	1	228476389	228476389	C	T	OBSCN	c.10139C>T	NM_052843.4	NP_443075.3:p.(Thr3380Met)	NC_000001.10:g.228476389C>T	VUS	1 lab	617f96c816
12:57909119 MARS1 A>C	12	57909119	57909119	A	C	MARS1	c.2391A>C	NM_004990.4	NP_004981.2:p.(Thr797=)	NC_000012.11:g.57909119A>C	(Likely) benign	1 lab	618120fde4
12:52909576 KRT5 A>C	12	52909576	52909576	A	C	KRT5	c.1474+6T>G	NM_000424.4	NP_000415.2:p.?	NC_000012.11:g.52909576A>C	VUS	1 lab	61818244a3
3:150803727 MED12L A>T	3	150803727	150803727	A	T	MED12L	c.-130+4A>T	NM_053002.6	NP_443728.3:p.?	NC_000003.11:g.150803727A>T	(Likely) benign	1 lab	6182785595
10:75529684 SEC24C A>G	10	75529684	75529684	A	G	SEC24C	c.2773A>G	NM_004922.4	NP_004913.2:p.(Thr925Ala)	NC_000010.10:g.75529684A>G	VUS	1 lab	61913d8266
8:108276537 ANGPT1 G>C	8	108276537	108276537	G	C	ANGPT1	c.1248C>G	NM_001146.5	NP_001137.2:p.(Ser416Arg)	NC_000008.10:g.108276537G>C	VUS	1 lab	61915b7825
21:38884275 DYRK1A CTGTTG>C	21	38884275	38884280	CTGTTG	C	DYRK1A	c.1707_1711del	NM_130436.2	NP_569120.1:p.(Val570AsnfsTer24)	NC_000021.8:g.38884276_38884280del	(Likely) pathogenic	1 lab	6192a350b3
2:179600346 TTN C>T	2	179600346	179600346	C	T	TTN	c.14827G>A	NM_001267550.2	NP_001254479.2:p.(Ala4943Thr)	NC_000002.11:g.179600346C>T	VUS	1 lab	61966c5038
19:13323516 CACNA1A CG>C	19	13323516	13323521	CG	C	CACNA1A	c.5978del	NM_001127222.2	NP_001120694.1:p.(Pro1993ArgfsTer25)	NC_000019.9:g.13323521del	VUS	1 lab	619b027320
8:77616813 ZFHX4 G>A	8	77616813	77616813	G	A	ZFHX4	c.490G>A	NM_024721.5	NP_078997.4:p.(Ala164Thr)	NC_000008.10:g.77616813G>A	(Likely) benign	1 lab	619c31ce1a
3:52436691 BAP1 C>T	3	52436691	52436691	C	T	BAP1	c.1984-1G>A	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52436691C>T	(Likely) pathogenic	1 lab	619c51ef37
10:13233388 MCM10 G>A	10	13233388	13233388	G	A	MCM10	c.1508G>A	NM_182751.3	NP_877428.1:p.(Arg503Gln)	NC_000010.10:g.13233388G>A	VUS	1 lab	61a37363ab
16:29809983 KIF22 T>G	16	29809983	29809983	T	G	KIF22	c.464T>G	NM_007317.3	NP_015556.1:p.(Leu155Arg)	NC_000016.9:g.29809983T>G	VUS	1 lab	61bc0e73c7
3:49141793 QARS1 C>T	3	49141793	49141793	C	T	QARS1	c.229G>A	NM_005051.3	NP_005042.1:p.(Ala77Thr)	NC_000003.11:g.49141793C>T	(Likely) benign	1 lab	61a3bf447b
10:69948792 MYPN C>T	10	69948792	69948792	C	T	MYPN	c.2834C>T	NM_032578.4	NP_115967.2:p.(Pro945Leu)	NC_000010.10:g.69948792C>T	VUS	1 lab	61a61aed3a
X:129299568 AIFM1 C>T	X	129299568	129299568	C	T	AIFM1	c.63G>A	NM_004208.4	NP_004199.1:p.(Arg21=)	NC_000023.10:g.129299568C>T	(Likely) benign	1 lab	61a64e2046
5:11111135 CTNND2 GCA>G	5	11111135	11111143	GCA	G	CTNND2	c.2296_2297del	NM_001332.4	NP_001323.1:p.(Cys766HisfsTer38)	NC_000005.9:g.11111142_11111143del	(Likely) pathogenic	1 lab	61a7567d11
2:166246021 SCN2A G>A	2	166246021	166246021	G	A	SCN2A	c.5705G>A	NM_021007.3	NP_066287.2:p.(Arg1902His)	NC_000002.11:g.166246021G>A	VUS	1 lab	61aa521892
13:32911892 BRCA2 AGCTACATATT>A	13	32911892	32911904	AGCTACATATT	A	BRCA2	c.3403_3412del	NM_000059.4	NP_000050.3:p.(Tyr1135ArgfsTer12)	NC_000013.10:g.32911895_32911904del	(Likely) pathogenic	1 lab	61ab220092
12:112891067 PTPN11 G>C	12	112891067	112891067	G	C	PTPN11	c.401G>C	NM_002834.5	NP_002825.3:p.(Ser134Thr)	NC_000012.11:g.112891067G>C	VUS	1 lab	61afe0fe48
14:55310855 GCH1 CAT>C	14	55310855	55310857	CAT	C	GCH1	c.631_632del	NM_000161.3	NP_000152.1:p.(Met211ValfsTer38)	NC_000014.8:g.55310856_55310857del	(Likely) pathogenic	1 lab	61b0f9392a
X:21900583 MBTPS2 T>C	X	21900583	21900583	T	C	MBTPS2	c.1370T>C	NM_015884.4	NP_056968.1:p.(Ile457Thr)	NC_000023.10:g.21900583T>C	VUS	1 lab	61b2e2b982
10:85971970 CDHR1 C>G	10	85971970	85971970	C	G	CDHR1	c.1589C>G	NM_033100.4	NP_149091.1:p.(Thr530Ser)	NC_000010.10:g.85971970C>G	VUS	1 lab	61b2e8f085
17:7750643 KDM6B C>T	17	7750643	7750643	C	T	KDM6B	c.1130C>T	NM_001080424.2	NP_001073893.1:p.(Ala377Val)	NC_000017.10:g.7750643C>T	(Likely) benign	1 lab	61b552cf9a
16:31008822 STX1B C>T	16	31008822	31008822	C	T	STX1B	c.354+1G>A	NM_052874.5	NP_443106.1:p.?	NC_000016.9:g.31008822C>T	(Likely) pathogenic	1 lab	61b7b8c97e
1:229567266 ACTA1 C>G	1	229567266	229567266	C	G	ACTA1	c.1114G>C	NM_001100.4	NP_001091.1:p.(Val372Leu)	NC_000001.10:g.229567266C>G	(Likely) pathogenic	1 lab	61c0f6e261
11:62291204 AHNAK T>G	11	62291204	62291204	T	G	AHNAK	c.10685A>C	NM_001620.3	NP_001611.1:p.(Asp3562Ala)	NC_000011.9:g.62291204T>G	VUS	1 lab	61c13412b2
9:108382282 FKTN A>G	9	108382282	108382282	A	G	FKTN	c.1112A>G	NM_001079802.1	NP_001073270.1:p.(Tyr371Cys)	NC_000009.11:g.108382282A>G	(Likely) pathogenic	1 lab	61c3f49525
16:1859850 HAGH A>G	16	1859850	1859850	A	G	HAGH	c.604-16T>C	NM_001040427.2	NP_001035517.1:p.?	NC_000016.9:g.1859850A>G	(Likely) benign	1 lab	61c456c4e8
2:179440725 TTN C>T	2	179440725	179440725	C	T	TTN	c.70134G>A	NM_001267550.2	NP_001254479.2:p.(Trp23378Ter)	NC_000002.11:g.179440725C>T	(Likely) pathogenic	1 lab	61c9dcbf38
7:6035257 PMS2 C>G	7	6035257	6035257	C	G	PMS2	c.811G>C	NM_000535.7	NP_000526.2:p.(Gly271Arg)	NC_000007.13:g.6035257C>G	VUS	1 lab	61ca67f8b9
5:14461235 TRIO A>C	5	14461235	14461235	A	C	TRIO	c.5311A>C	NM_007118.4	NP_009049.2:p.(Asn1771His)	NC_000005.9:g.14461235A>C	VUS	1 lab	61cc628032
22:29115474 CHEK2 C>A	22	29115474	29115474	C	A	CHEK2	c.593-1G>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115474C>A	(Likely) pathogenic	1 lab	61cfa2f30d
17:41276098 BRCA1 G>A	17	41276098	41276098	G	A	BRCA1	c.16C>T	NM_007294.4	NP_009225.1:p.(Leu6Phe)	NC_000017.10:g.41276098G>A	VUS	1 lab	61d5847990
5:1879851 IRX4 G>A	5	1879851	1879851	G	A	IRX4	c.503C>T	NM_016358.3	NP_057442.1:p.(Pro168Leu)	NC_000005.9:g.1879851G>A	VUS	1 lab	61d84d2622
15:40477831 BUB1B G>A	15	40477831	40477831	G	A	BUB1B	c.1046G>A	NM_001211.6	NP_001202.5:p.(Arg349Gln)	NC_000015.9:g.40477831G>A	(Likely) benign	1 lab	61d9516556
X:152845739 ATP2B3 GTGGAGAC>G	X	152845739	152845746	GTGGAGAC	G	ATP2B3	c.3647_3653del	NM_001001344.2	NP_001001344.1:p.(Val1216GlyfsTer106)	NC_000023.10:g.152845740_152845746del	VUS	1 lab	61d99963d1
10:64928233 JMJD1C G>T	10	64928233	64928233	G	T	JMJD1C	c.7495C>A	NM_032776.3	NP_116165.1:p.(Leu2499Ile)	NC_000010.10:g.64928233G>T	VUS	1 lab	61d9af16c3
X:108924331 ACSL4 A>T	X	108924331	108924331	A	T	ACSL4	c.674T>A	NM_022977.3	NP_075266.1:p.(Ile225Asn)	NC_000023.10:g.108924331A>T	VUS	1 lab	61d9c0b468
1:44395786 ST3GAL3 C>T	1	44395786	44395786	C	T	ST3GAL3	c.1246-18C>T	NM_174963.5	NP_777623.2:p.?	NC_000001.10:g.44395786C>T	(Likely) benign	1 lab	61dc213402
2:219146842 PNKD G>C	2	219146842	219146842	G	C	PNKD	c.236+10570G>C	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219146842G>C	(Likely) benign	1 lab	61dc47c3b5
15:91290683 BLM C>T	15	91290683	91290683	C	T	BLM	c.61C>T	NM_001287246.2	NP_001274175.1:p.(Leu21Phe)	NC_000015.9:g.91290683C>T	VUS	1 lab	61dd31014f
3:58417304 PDHB A>G	3	58417304	58417304	A	G	PDHB	c.303+16T>C	NM_000925.4	NP_000916.2:p.?	NC_000003.11:g.58417304A>G	(Likely) benign	1 lab	61de3588d9
3:114069630 ZBTB20 G>A	3	114069630	114069630	G	A	ZBTB20	c.1295C>T	NM_001164342.2	NP_001157814.1:p.(Ser432Phe)	NC_000003.11:g.114069630G>A	VUS	1 lab	61de5d243e
1:244999069 COX20 G>C	1	244999069	244999069	G	C	COX20	c.42+11G>C	NM_198076.6	NP_932342.1:p.?	NC_000001.10:g.244999069G>C	(Likely) benign	1 lab	61e155e0c8
10:89720871 PTEN T>A	10	89720871	89720871	T	A	PTEN	c.1022T>A	NM_000314.8	NP_000305.3:p.(Phe341Tyr)	NC_000010.10:g.89720871T>A	(Likely) pathogenic	1 lab	61e80b217c
1:237872252 RYR2 G>T	1	237872252	237872252	G	T	RYR2	c.9996G>T	NM_001035.3	NP_001026.2:p.(Thr3332=)	NC_000001.10:g.237872252G>T	(Likely) benign	1 lab	61efb5baf5
11:19206509 CSRP3 AAGTTCCC>A	11	19206509	19206516	AAGTTCCC	A	CSRP3	c.491_497del	NM_003476.5	NP_003467.1:p.(Gly164ValfsTer42)	NC_000011.9:g.19206510_19206516del	VUS	1 lab	61f2cd9e9e
16:89347172 ANKRD11 C>CG	16	89347172	89347178	C	CG	ANKRD11	c.5777dup	NM_001256182.2	NP_001243111.1:p.(Glu1927GlyfsTer23)	NC_000016.9:g.89347178dup	(Likely) pathogenic	1 lab	61f55d85e2
20:61982183 CHRNA4 T>C	20	61982183	61982183	T	C	CHRNA4	c.580A>G	NM_000744.7	NP_000735.1:p.(Met194Val)	NC_000020.10:g.61982183T>C	VUS	1 lab	61f5ac23ff
16:31343005 ITGAM C>T	16	31343005	31343005	C	T	ITGAM	c.3439C>T	NM_001145808.2	NP_001139280.1:p.(Pro1147Ser)	NC_000016.9:g.31343005C>T	(Likely) benign	1 lab	61fc802756
2:26700289 OTOF C>A	2	26700289	26700289	C	A	OTOF	c.2401G>T	NM_194248.3	NP_919224.1:p.(Glu801Ter)	NC_000002.11:g.26700289C>A	(Likely) benign	1 lab	620143479c
12:6574071 VAMP1 C>T	12	6574071	6574071	C	T	VAMP1	c.325G>A	NM_014231.5	NP_055046.1:p.(Val109Met)	NC_000012.11:g.6574071C>T	VUS	1 lab	620da528e8
X:135289254 FHL1 C>T	X	135289254	135289254	C	T	FHL1	c.236C>T	NM_001449.5	NP_001440.2:p.(Thr79Ile)	NC_000023.10:g.135289254C>T	VUS	1 lab	6212532c90
X:136648998 ZIC3 G>T	X	136648998	136648998	G	T	ZIC3	c.148G>T	NM_003413.4	NP_003404.1:p.(Ala50Ser)	NC_000023.10:g.136648998G>T	VUS	1 lab	6213127a57
3:81699014 GBE1 T>C	3	81699014	81699014	T	C	GBE1	c.488A>G	NM_000158.4	NP_000149.4:p.(Tyr163Cys)	NC_000003.11:g.81699014T>C	VUS	1 lab	62136158c1
16:90001643 TUBB3 C>T	16	90001643	90001643	C	T	TUBB3	c.784C>T	NM_006086.4	NP_006077.2:p.(Arg262Cys)	NC_000016.9:g.90001643C>T	(Likely) pathogenic	1 lab	621ec05288
2:179393524 TTN G>A	2	179393524	179393524	G	A	TTN	c.106954C>T	NM_001267550.2	NP_001254479.2:p.(Arg35652Ter)	NC_000002.11:g.179393524G>A	(Likely) pathogenic	1 lab	6220dcb0e7
19:13084203 DAND5 G>A	19	13084203	13084203	G	A	DAND5	c.325G>A	NM_152654.3	NP_689867.1:p.(Val109Met)	NC_000019.9:g.13084203G>A	VUS	1 lab	6223b9e63f
17:39659320 KRT13 C>T	17	39659320	39659320	C	T	KRT13	c.766G>A	NM_002274.4	NP_002265.3:p.(Gly256Ser)	NC_000017.10:g.39659320C>T	(Likely) benign	1 lab	62247c0d7e
19:50365474 PNKP G>A	19	50365474	50365474	G	A	PNKP	c.1094C>T	NM_007254.4	NP_009185.2:p.(Pro365Leu)	NC_000019.9:g.50365474G>A	VUS	1 lab	6226eac47e
2:167145142 SCN9A A>G	2	167145142	167145142	A	G	SCN9A	c.1119T>C	NM_002977.3	NP_002968.1:p.(Ala373=)	NC_000002.11:g.167145142A>G	(Likely) benign	1 lab	622870cc79
1:45288809 PTCH2 G>A	1	45288809	45288809	G	A	PTCH2	c.3289C>T	NM_003738.5	NP_003729.3:p.(Leu1097Phe)	NC_000001.10:g.45288809G>A	VUS	1 lab	622d91b2de
9:35658035 CCDC107 G>C	9	35658035	35658035	G	C	CCDC107				NC_000009.11:g.35658035G>C	(Likely) benign	1 lab	623b60552d
17:56389823 TSPOAP1 C>T	17	56389823	56389823	C	T	TSPOAP1	c.2359G>A	NM_004758.4	NP_004749.2:p.(Glu787Lys)	NC_000017.10:g.56389823C>T	(Likely) benign	1 lab	623ede3b8a
10:104416746 TRIM8 G>A	10	104416746	104416746	G	A	TRIM8	c.1291G>A	NM_030912.3	NP_112174.2:p.(Gly431Ser)	NC_000010.10:g.104416746G>A	(Likely) benign	1 lab	6248513152
13:40293382 COG6 C>T	13	40293382	40293382	C	T	COG6	c.1294C>T	NM_020751.3	NP_065802.1:p.(Pro432Ser)	NC_000013.10:g.40293382C>T	VUS	1 lab	624fe7a9b9
X:106890998 PRPS1 G>A	X	106890998	106890998	G	A	PRPS1	c.864+3G>A	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106890998G>A	(Likely) benign	1 lab	625086f2ac
8:145154243 SHARPIN C>T	8	145154243	145154243	C	T	SHARPIN	c.859G>A	NM_030974.4	NP_112236.3:p.(Gly287Arg)	NC_000008.10:g.145154243C>T	VUS	1 lab	6252c4b810
X:53111758 TSPYL2 CCCGCCG>C	X	53111758	53111780	CCCGCCG	C	TSPYL2	c.95_100del	NM_022117.4	NP_071400.1:p.(Pro32_Pro33del)	NC_000023.10:g.53111775_53111780del	(Likely) benign	1 lab	6256e25e06
9:131670919 LRRC8A T>C	9	131670919	131670919	T	C	LRRC8A	c.1476T>C	NM_001127244.2	NP_001120716.1:p.(Arg492=)	NC_000009.11:g.131670919T>C	(Likely) benign	1 lab	62587fcea6
2:179454560 TTN T>C	2	179454560	179454560	T	C	TTN	c.61892A>G	NM_001267550.2	NP_001254479.2:p.(Asn20631Ser)	NC_000002.11:g.179454560T>C	VUS	1 lab	626180a361
1:236882236 ACTN2 A>C	1	236882236	236882236	A	C	ACTN2	c.284A>C	NM_001103.4	NP_001094.1:p.(His95Pro)	NC_000001.10:g.236882236A>C	VUS	1 lab	6265621192
7:70229818 AUTS2 C>A	7	70229818	70229818	C	A	AUTS2	c.1295C>A	NM_015570.4	NP_056385.1:p.(Pro432His)	NC_000007.13:g.70229818C>A	VUS	1 lab	6265962459
4:100232756 ADH1B G>T	4	100232756	100232756	G	T	ADH1B	c.886C>A	NM_000668.6	NP_000659.2:p.(Pro296Thr)	NC_000004.11:g.100232756G>T	VUS	1 lab	626c2acff1
12:21997426 ABCC9 GA>G	12	21997426	21997427	GA	G	ABCC9	c.3305del	NM_020297.4	NP_064693.2:p.(Ile1102ThrfsTer13)	NC_000012.11:g.21997427del	VUS	1 lab	626c45fa14
12:5021404 KCNA1 C>T	12	5021404	5021404	C	T	KCNA1	c.860C>T	NM_000217.3	NP_000208.2:p.(Ser287Phe)	NC_000012.11:g.5021404C>T	(Likely) pathogenic	1 lab	626ed0c845
12:21958098 ABCC9 T>C	12	21958098	21958098	T	C	ABCC9	c.4512+834A>G	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21958098T>C	(Likely) benign	1 lab	626ef57e8e
22:19126745 ESS2 C>T	22	19126745	19126745	C	T	ESS2	c.749G>A	NM_022719.3	NP_073210.1:p.(Arg250His)	NC_000022.10:g.19126745C>T	VUS	1 lab	626f4d8864
6:27835133 H1-5 C>T	6	27835133	27835133	C	T	H1-5	c.175G>A	NM_005322.3	NP_005313.1:p.(Gly59Ser)	NC_000006.11:g.27835133C>T	VUS	1 lab	6274beb383
X:53279898 IQSEC2 CA>C	X	53279898	53279899	CA	C	IQSEC2	c.1859del	NM_001111125.3	NP_001104595.1:p.(Val620GlyfsTer13)	NC_000023.10:g.53279899del	(Likely) pathogenic	1 lab	6275cb1385
2:179610544 TTN C>T	2	179610544	179610544	C	T	TTN	c.16583G>A	NM_133379.5	NP_596870.2:p.(Gly5528Asp)	NC_000002.11:g.179610544C>T	VUS	1 lab	6276867119
9:133710804 ABL1 T>C	9	133710804	133710804	T	C	ABL1	c.137-18647T>C	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133710804T>C	(Likely) benign	1 lab	6279540060
X:153295809 MECP2 C>T	X	153295809	153295809	C	T	MECP2	c.*9G>A	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153295809C>T	(Likely) benign	1 lab	628025e7f9
12:25380183 KRAS T>A	12	25380183	25380183	T	A	KRAS	c.275A>T	NM_004985.5	NP_004976.2:p.(Asp92Val)	NC_000012.11:g.25380183T>A	VUS	1 lab	6282f2c653
X:153640249 TAFAZZIN C>A	X	153640249	153640249	C	A	TAFAZZIN	c.69C>A	NM_000116.5	NP_000107.1:p.(Val23=)	NC_000023.10:g.153640249C>A	(Likely) benign	1 lab	6285bd481d
7:40037248 CDK13 G>A	7	40037248	40037248	G	A	CDK13	c.2027G>A	NM_003718.5	NP_003709.3:p.(Ser676Asn)	NC_000007.13:g.40037248G>A	(Likely) benign	1 lab	6286b68aa3
4:1221999 CTBP1 C>A	4	1221999	1221999	C	A	CTBP1	c.295G>T	NM_001012614.2	NP_001012632.1:p.(Ala99Ser)	NC_000004.11:g.1221999C>A	VUS	1 lab	628732ed82
2:179439802 TTN G>A	2	179439802	179439802	G	A	TTN	c.71057C>T	NM_001267550.2	NP_001254479.2:p.(Ala23686Val)	NC_000002.11:g.179439802G>A	VUS	1 lab	62876e7eca
12:122265951 SETD1B C>A	12	122265951	122265951	C	A	SETD1B	c.5702C>A	NM_001353345.2	NP_001340274.1:p.(Ala1901Glu)	NC_000012.11:g.122265951C>A	(Likely) pathogenic	1 lab	628e1a8846
4:88967841 PKD2 A>G	4	88967841	88967841	A	G	PKD2	c.1367A>G	NM_000297.4	NP_000288.1:p.(Gln456Arg)	NC_000004.11:g.88967841A>G	VUS	1 lab	6290e17e9d
3:46620614 CRIPTO T>C	3	46620614	46620614	T	C	CRIPTO	c.65T>C	NM_003212.4	NP_003203.1:p.(Val22Ala)	NC_000003.11:g.46620614T>C	(Likely) benign	1 lab	6295cf3e33
X:22245668 PHEX GCCTCTTCTA>G	X	22245668	22245679	GCCTCTTCTA	G	PHEX	c.2013_2021del	NM_000444.6	NP_000435.3:p.(Leu672_Pro674del)	NC_000023.10:g.22245671_22245679del	(Likely) pathogenic	1 lab	62964706f0
16:71885640 ATXN1L C>T	16	71885640	71885640	C	T	ATXN1L	c.1997C>T	NM_001137675.4	NP_001131147.1:p.(Ala666Val)	NC_000016.9:g.71885640C>T	VUS	1 lab	629925b696
3:38793844 SCN10A C>CA	3	38793844	38793845	C	CA	SCN10A	c.1620dup	NM_006514.4	NP_006505.4:p.(Gly541TrpfsTer11)	NC_000003.11:g.38793845dup	VUS	1 lab	6299af3042
X:70627446 TAF1 G>A	X	70627446	70627446	G	A	TAF1	c.4130G>A	NM_004606.5	NP_004597.3:p.(Arg1377Gln)	NC_000023.10:g.70627446G>A	VUS	1 lab	629ad616a1
16:89261277 CDH15 A>C	16	89261277	89261277	A	C	CDH15	c.2159A>C	NM_004933.3	NP_004924.1:p.(Glu720Ala)	NC_000016.9:g.89261277A>C	(Likely) benign	1 lab	629bf9f965
13:23907278 SACS C>T	13	23907278	23907278	C	T	SACS	c.10737G>A	NM_014363.6	NP_055178.3:p.(Met3579Ile)	NC_000013.10:g.23907278C>T	VUS	1 lab	629c5605ac
5:40980010 C7 TG>T	5	40980010	40980012	TG	T	C7	c.2350+1del	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40980012del	(Likely) pathogenic	1 lab	629cb17758
2:73827849 ALMS1 G>A	2	73827849	73827849	G	A	ALMS1	c.11716G>A	NM_015120.4	NP_055935.4:p.(Val3906Ile)	NC_000002.11:g.73827849G>A	VUS	1 lab	629e1231b5
5:151179469 G3BP1 C>T	5	151179469	151179469	C	T	G3BP1	c.863C>T	NM_198395.2	NP_938405.1:p.(Pro288Leu)	NC_000005.9:g.151179469C>T	VUS	1 lab	62a5f8ad30
10:105816916 COL17A1 C>T	10	105816916	105816916	C	T	COL17A1	c.1282G>A	NM_000494.4	NP_000485.3:p.(Gly428Ser)	NC_000010.10:g.105816916C>T	(Likely) benign	1 lab	62a970fbeb
2:179470237 TTN C>T	2	179470237	179470237	C	T	TTN	c.53785G>A	NM_001267550.2	NP_001254479.2:p.(Glu17929Lys)	NC_000002.11:g.179470237C>T	VUS	1 lab	62ab7a7d95
19:42793443 CIC GC>G	19	42793443	42793448	GC	G	CIC	c.1250del	NM_015125.5	NP_055940.3:p.(Pro417ArgfsTer18)	NC_000019.9:g.42793448del	(Likely) pathogenic	1 lab	62b8f3ab1e
3:53736738 CACNA1D C>A	3	53736738	53736738	C	A	CACNA1D	c.1291C>A	NM_000720.4	NP_000711.1:p.(Leu431Met)	NC_000003.11:g.53736738C>A	VUS	1 lab	62bf5f4e80
16:2813572 SRRM2 C>A	16	2813572	2813572	C	A	SRRM2	c.3043C>A	NM_016333.4	NP_057417.3:p.(Pro1015Thr)	NC_000016.9:g.2813572C>A	VUS	1 lab	62c906e5ff
X:41204560 DDX3X TTTCCTA>T	X	41204560	41204566	TTTCCTA	T	DDX3X	c.1154_1159del	NM_001356.5	NP_001347.3:p.(Phe385Ter)	NC_000023.10:g.41204561_41204566del	(Likely) pathogenic	1 lab	62cb04a646
9:98229441 PTCH1 CTGTT>C	9	98229441	98229450	CTGTT	C	PTCH1	c.2513_2516del	NM_000264.5	NP_000255.2:p.(Lys838SerfsTer64)	NC_000009.11:g.98229447_98229450del	(Likely) pathogenic	1 lab	62ccda6cd6
5:60241142 NDUFAF2 G>A	5	60241142	60241142	G	A	NDUFAF2	c.60G>A	NM_174889.5	NP_777549.1:p.(Lys20=)	NC_000005.9:g.60241142G>A	(Likely) benign	1 lab	62cd6eb18f
1:45293089 PTCH2 G>A	1	45293089	45293089	G	A	PTCH2	c.2356C>T	NM_001166292.2	NP_001159764.1:p.(Arg786Cys)	NC_000001.10:g.45293089G>A	VUS	1 lab	62cf70f3f7
9:71836271 TJP2 C>T	9	71836271	71836271	C	T	TJP2	c.811C>T	NM_004817.4	NP_004808.2:p.(Arg271Cys)	NC_000009.11:g.71836271C>T	VUS	1 lab	62d22ca34c
3:52437774 BAP1 G>C	3	52437774	52437774	G	C	BAP1	c.1387C>G	NM_004656.4	NP_004647.1:p.(Leu463Val)	NC_000003.11:g.52437774G>C	VUS	1 lab	62d40303a7
2:39250079 SOS1 C>T	2	39250079	39250079	C	T	SOS1	c.1490G>A	NM_005633.4	NP_005624.2:p.(Arg497Gln)	NC_000002.11:g.39250079C>T	VUS	1 lab	62d4397bcd
1:237659950 RYR2 G>A	1	237659950	237659950	G	A	RYR2	c.2101G>A	NM_001035.3	NP_001026.2:p.(Glu701Lys)	NC_000001.10:g.237659950G>A	VUS	1 lab	62d55959f1
11:47372916 MYBPC3 C>T	11	47372916	47372916	C	T	MYBPC3	c.166G>A	NM_000256.3	NP_000247.2:p.(Gly56Ser)	NC_000011.9:g.47372916C>T	VUS	1 lab	62ddb3f72b
22:17586715 IL17RA ATCAC>A	22	17586715	17586723	ATCAC	A	IL17RA	c.944-23_944-20del	NM_014339.7	NP_055154.3:p.?	NC_000022.10:g.17586720_17586723del	(Likely) benign	1 lab	62e04e3239
X:73812736 RLIM A>T	X	73812736	73812736	A	T	RLIM	c.414T>A	NM_183353.3	NP_899196.1:p.(Ser138Arg)	NC_000023.10:g.73812736A>T	VUS	1 lab	62e075dbca
4:144442699 SMARCA5 C>T	4	144442699	144442699	C	T	SMARCA5	c.370C>T	NM_003601.4	NP_003592.3:p.(Arg124Cys)	NC_000004.11:g.144442699C>T	VUS	1 lab	62e8ad29c6
1:183184663 LAMC2 G>A	1	183184663	183184663	G	A	LAMC2	c.344G>A	NM_005562.3	NP_005553.2:p.(Arg115Gln)	NC_000001.10:g.183184663G>A	(Likely) benign	1 lab	62e96e3538
2:242688366 D2HGDH C>T	2	242688366	242688366	C	T	D2HGDH	c.854-1200C>T	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242688366C>T	(Likely) benign	1 lab	62e9a3f62a
X:32867946 DMD A>T	X	32867946	32867946	A	T	DMD	c.94-9T>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32867946A>T	(Likely) benign	1 lab	63fbc38df1
15:91479556 UNC45A C>T	15	91479556	91479556	C	T	UNC45A	c.292C>T	NM_018671.5	NP_061141.2:p.(Arg98Trp)	NC_000015.9:g.91479556C>T	(Likely) pathogenic	1 lab	62ea18cfa3
2:16085969 MYCN G>A	2	16085969	16085969	G	A	MYCN	c.1145G>A	NM_005378.6	NP_005369.2:p.(Arg382His)	NC_000002.11:g.16085969G>A	(Likely) pathogenic	1 lab	62f7d9052e
7:128486445 FLNC G>A	7	128486445	128486445	G	A	FLNC	c.4055G>A	NM_001458.5	NP_001449.3:p.(Arg1352His)	NC_000007.13:g.128486445G>A	VUS	1 lab	62f9413157
3:38645553 SCN5A C>A	3	38645553	38645553	C	A	SCN5A	c.1540G>T	NM_198056.3	NP_932173.1:p.(Gly514Cys)	NC_000003.11:g.38645553C>A	(Likely) pathogenic	1 lab	62fe21571c
3:38627416 SCN5A G>A	3	38627416	38627416	G	A	SCN5A	c.2553C>T	NM_001099404.2	NP_001092874.1:p.(Phe851=)	NC_000003.11:g.38627416G>A	(Likely) benign	1 lab	63000926ee
4:114275794 ANK2 A>G	4	114275794	114275794	A	G	ANK2	c.6020A>G	NM_001148.6	NP_001139.3:p.(Lys2007Arg)	NC_000004.11:g.114275794A>G	VUS	1 lab	63012b715d
5:161522558 GABRG2 C>CT	5	161522558	161522559	C	CT	GABRG2	c.318dup	NM_000816.3	NP_000807.2:p.(Ile107TyrfsTer8)	NC_000005.9:g.161522559dup	(Likely) pathogenic	1 lab	6301e5bacc
6:170871055 TBP G>GCAACAGCAA	6	170871055	170871058	G	GCAACAGCAA	TBP	c.233_234insACAGCAACA	NM_003194.5	NP_003185.1:p.(Gln93_Gln95dup)	NC_000006.11:g.170871057_170871058insACAGCAACA	(Likely) benign	1 lab	63036714df
X:153063508 SSR4 C>T	X	153063508	153063508	C	T	SSR4	c.385-18C>T	NM_001204526.1	NP_001191455.1:p.?	NC_000023.10:g.153063508C>T	(Likely) benign	1 lab	630bead6a6
12:104054503 STAB2 A>G	12	104054503	104054503	A	G	STAB2	c.1831A>G	NM_017564.10	NP_060034.9:p.(Met611Val)	NC_000012.11:g.104054503A>G	VUS	1 lab	6312fde54c
11:123509024 SCN3B C>CTCTTT	11	123509024	123509025	C	CTCTTT	SCN3B	c.453_454insAAAGA	NM_018400.4	NP_060870.1:p.(Asp152LysfsTer12)	NC_000011.9:g.123509024_123509025insTCTTT	VUS	1 lab	63140cb7f4
1:46659545 POMGNT1 C>T	1	46659545	46659545	C	T	POMGNT1	c.932G>A	NM_001243766.1	NP_001230695.1:p.(Arg311Gln)	NC_000001.10:g.46659545C>T	(Likely) pathogenic	1 lab	63160cfe2a
3:48607731 COL7A1 C>T	3	48607731	48607731	C	T	COL7A1	c.7417G>A	NM_000094.4	NP_000085.1:p.(Glu2473Lys)	NC_000003.11:g.48607731C>T	VUS	1 lab	631766b2e4
14:23902372 MYH7 T>C	14	23902372	23902372	T	C	MYH7	c.266A>G	NM_000257.4	NP_000248.2:p.(Asp89Gly)	NC_000014.8:g.23902372T>C	VUS	1 lab	6318086e9e
18:77171164 NFATC1 G>A	18	77171164	77171164	G	A	NFATC1	c.889G>A	NM_006162.5	NP_006153.2:p.(Asp297Asn)	NC_000018.9:g.77171164G>A	(Likely) benign	1 lab	6318bb6827
X:38268244 OTC T>G	X	38268244	38268244	T	G	OTC	c.833T>G	NM_000531.6	NP_000522.3:p.(Leu278Arg)	NC_000023.10:g.38268244T>G	VUS	1 lab	63198669fc
19:4117439 MAP2K2 G>A	19	4117439	4117439	G	A	MAP2K2	c.281C>T	NM_030662.4	NP_109587.1:p.(Ser94Leu)	NC_000019.9:g.4117439G>A	VUS	1 lab	631f1aed63
9:98209541 PTCH1 G>C	9	98209541	98209541	G	C	PTCH1	c.3997C>G	NM_000264.5	NP_000255.2:p.(Pro1333Ala)	NC_000009.11:g.98209541G>C	VUS	1 lab	63203c8ab6
9:116858747 KIF12 G>C	9	116858747	116858747	G	C	KIF12	c.244C>G	NM_138424.2	NP_612433.1:p.(Arg82Gly)	NC_000009.11:g.116858747G>C	VUS	1 lab	6321f8c3de
9:131094487 COQ4 C>T	9	131094487	131094487	C	T	COQ4	c.458C>T	NM_016035.5	NP_057119.3:p.(Ala153Val)	NC_000009.11:g.131094487C>T	(Likely) pathogenic	1 lab	632c35518c
X:137939692 FGF13 C>T	X	137939692	137939692	C	T	FGF13	c.112G>A	NM_001139501.2	NP_001132973.1:p.(Glu38Lys)	NC_000023.10:g.137939692C>T	VUS	1 lab	632cdd507e
18:72346814 ZNF407 G>A	18	72346814	72346814	G	A	ZNF407	c.3839G>A	NM_017757.3	NP_060227.2:p.(Gly1280Glu)	NC_000018.9:g.72346814G>A	VUS	1 lab	632d625a52
9:135781394 TSC1 G>A	9	135781394	135781394	G	A	TSC1	c.1571C>T	NM_000368.5	NP_000359.1:p.(Ser524Phe)	NC_000009.11:g.135781394G>A	VUS	1 lab	63329134fb
16:2225387 TRAF7 T>A	16	2225387	2225387	T	A	TRAF7	c.1472T>A	NM_032271.3	NP_115647.2:p.(Val491Glu)	NC_000016.9:g.2225387T>A	VUS	1 lab	633341bbee
10:101486833 COX15 A>G	10	101486833	101486833	A	G	COX15	c.474T>C	NM_078470.6	NP_510870.1:p.(Leu158=)	NC_000010.10:g.101486833A>G	(Likely) benign	1 lab	63379e54e8
6:143091769 HIVEP2 G>A	6	143091769	143091769	G	A	HIVEP2	c.4107C>T	NM_006734.4	NP_006725.3:p.(Val1369=)	NC_000006.11:g.143091769G>A	(Likely) benign	1 lab	6338cd0662
10:81053204 ZMIZ1 A>G	10	81053204	81053204	A	G	ZMIZ1	c.1024A>G	NM_020338.4	NP_065071.1:p.(Met342Val)	NC_000010.10:g.81053204A>G	(Likely) benign	1 lab	633fc37bd8
22:40681651 TNRC6B C>T	22	40681651	40681651	C	T	TNRC6B	c.3585C>T	NM_001162501.2	NP_001155973.1:p.(Gly1195=)	NC_000022.10:g.40681651C>T	(Likely) benign	1 lab	634204c5a1
5:112151192 APC G>A	5	112151192	112151192	G	A	APC	c.835G>A	NM_000038.6	NP_000029.2:p.(Gly279Ser)	NC_000005.9:g.112151192G>A	VUS	1 lab	634fe64590
13:32905168 BRCA2 G>A	13	32905168	32905168	G	A	BRCA2	c.793+1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905168G>A	(Likely) pathogenic	1 lab	635389b2b1
4:2822390 SH3BP2 G>A	4	2822390	2822390	G	A	SH3BP2	c.46G>A	NM_003023.4	NP_003014.3:p.(Gly16Ser)	NC_000004.11:g.2822390G>A	VUS	1 lab	635cf1a307
19:50163997 IRF3 C>T	19	50163997	50163997	C	T	IRF3	c.1071G>A	NM_001571.6	NP_001562.1:p.(Pro357=)	NC_000019.9:g.50163997C>T	(Likely) benign	1 lab	635de4b321
4:89186167 PPM1K C>T	4	89186167	89186167	C	T	PPM1K	c.973G>A	NM_152542.5	NP_689755.3:p.(Ala325Thr)	NC_000004.11:g.89186167C>T	VUS	1 lab	63604ae52d
3:135980866 PCCB G>A	3	135980866	135980866	G	A	PCCB	c.562G>A	NM_001178014.1	NP_001171485.1:p.(Glu188Lys)	NC_000003.11:g.135980866G>A	(Likely) pathogenic	1 lab	636373e634
14:95569725 DICER1 AG>A	14	95569725	95569728	AG	A	DICER1	c.4007del	NM_177438.3	NP_803187.1:p.(Pro1336LeufsTer11)	NC_000014.8:g.95569728del	(Likely) pathogenic	1 lab	6368038aa0
17:39739527 KRT14 TCTC>T	17	39739527	39739532	TCTC	T	KRT14	c.1231_1233del	NM_000526.5	NP_000517.3:p.(Glu411del)	NC_000017.10:g.39739530_39739532del	(Likely) pathogenic	1 lab	63699f61d8
16:47581353 PHKB A>G	16	47581353	47581353	A	G	PHKB	c.604A>G	NM_000293.3	NP_000284.1:p.(Ile202Val)	NC_000016.9:g.47581353A>G	VUS	1 lab	6379077cbb
16:71609856 TAT C>T	16	71609856	71609856	C	T	TAT	c.309G>A	NM_000353.3	NP_000344.1:p.(Ser103=)	NC_000016.9:g.71609856C>T	(Likely) benign	1 lab	637981a688
1:214828652 CENPF G>C	1	214828652	214828652	G	C	CENPF	c.8391G>C	NM_016343.4	NP_057427.3:p.(Leu2797Phe)	NC_000001.10:g.214828652G>C	VUS	1 lab	638550e4cb
2:179595930 TTN TC>T	2	179595930	179595931	TC	T	TTN	c.17462-1del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595931del	VUS	1 lab	63855506fe
9:98242720 PTCH1 C>T	9	98242720	98242720	C	T	PTCH1	c.699G>A	NM_001083602.3	NP_001077071.1:p.(Pro233=)	NC_000009.11:g.98242720C>T	(Likely) benign	1 lab	63889849c8
21:44845382 SIK1 T>C	21	44845382	44845382	T	C	SIK1	c.178A>G	NM_173354.5	NP_775490.2:p.(Lys60Glu)	NC_000021.8:g.44845382T>C	VUS	1 lab	63924ba937
15:44166444 FRMD5 C>T	15	44166444	44166444	C	T	FRMD5	c.650G>A	NM_001286491.2	NP_001273420.1:p.(Gly217Glu)	NC_000015.9:g.44166444C>T	VUS	1 lab	6399ddc25b
1:27875560 AHDC1 G>A	1	27875560	27875560	G	A	AHDC1	c.3067C>T	NM_001029882.3	NP_001025053.1:p.(Pro1023Ser)	NC_000001.10:g.27875560G>A	VUS	1 lab	639c739ab7
8:121210069 COL14A1 T>C	8	121210069	121210069	T	C	COL14A1	c.612T>C	NM_021110.4	NP_066933.1:p.(Gly204=)	NC_000008.10:g.121210069T>C	(Likely) benign	1 lab	639f36f1ee
2:234669619 UGT1A1 C>T	2	234669619	234669619	C	T	UGT1A1	c.686C>T	NM_000463.3	NP_000454.1:p.(Pro229Leu)	NC_000002.11:g.234669619C>T	VUS	1 lab	63a7bdbdb1
X:47433445 SYN1 T>G	X	47433445	47433445	T	G	SYN1	c.1938A>C	NM_006950.3	NP_008881.2:p.(Pro646=)	NC_000023.10:g.47433445T>G	(Likely) benign	1 lab	63a83346cd
X:70343486 MED12 G>A	X	70343486	70343486	G	A	MED12	c.1660G>A	NM_005120.3	NP_005111.2:p.(Ala554Thr)	NC_000023.10:g.70343486G>A	VUS	1 lab	63ac8b80a1
7:69583231 AUTS2 TAA>T	7	69583231	69583253	TAA	T	AUTS2	c.624+33_624+34del	NM_001127231.3	NP_001120703.1:p.?	NC_000007.13:g.69583252_69583253del	(Likely) benign	1 lab	63ad0faae5
1:153233510 LORICRIN A>G	1	153233510	153233510	A	G	LORICRIN	c.85A>G	NM_000427.3	NP_000418.2:p.(Ser29Gly)	NC_000001.10:g.153233510A>G	(Likely) benign	1 lab	63ade90926
X:73960990 NEXMIF G>T	X	73960990	73960990	G	T	NEXMIF	c.3402C>A	NM_001008537.3	NP_001008537.1:p.(His1134Gln)	NC_000023.10:g.73960990G>T	VUS	1 lab	63ae197717
21:39086717 KCNJ6 G>A	21	39086717	39086717	G	A	KCNJ6	c.743C>T	NM_002240.5	NP_002231.1:p.(Ser248Leu)	NC_000021.8:g.39086717G>A	VUS	1 lab	63ae9b74a3
7:94048769 COL1A2 C>T	7	94048769	94048769	C	T	COL1A2	c.2026-41C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94048769C>T	(Likely) benign	1 lab	63b02f2060
7:55242484 EGFR T>A	7	55242484	55242484	T	A	EGFR	c.2254T>A	NM_005228.5	NP_005219.2:p.(Ser752Thr)	NC_000007.13:g.55242484T>A	VUS	1 lab	63b2c012bc
17:72281332 DNAI2 C>T	17	72281332	72281332	C	T	DNAI2	c.337C>T	NM_001353167.2	NP_001340096.1:p.(Leu113Phe)	NC_000017.10:g.72281332C>T	VUS	1 lab	63be1779ff
6:51524512 PKHD1 A>C	6	51524512	51524512	A	C	PKHD1	c.10412T>G	NM_138694.4	NP_619639.3:p.(Val3471Gly)	NC_000006.11:g.51524512A>C	(Likely) pathogenic	1 lab	63c3c4e547
14:103444530 CDC42BPB G>A	14	103444530	103444530	G	A	CDC42BPB	c.1153C>T	NM_006035.4	NP_006026.3:p.(Pro385Ser)	NC_000014.8:g.103444530G>A	VUS	1 lab	63c53dfcd3
10:43597980 RET T>G	10	43597980	43597980	T	G	RET	c.528T>G	NM_020975.6	NP_066124.1:p.(Ile176Met)	NC_000010.10:g.43597980T>G	VUS	1 lab	63ccfe8a76
3:37061923 MLH1 G>C	3	37061923	37061923	G	C	MLH1	c.1007G>C	NM_000249.4	NP_000240.1:p.(Gly336Ala)	NC_000003.11:g.37061923G>C	VUS	1 lab	63cf727cd9
17:59544988 TBX4 GACAA>G	17	59544988	59544996	GACAA	G	TBX4	c.524_527del	NM_018488.3	NP_060958.2:p.(Asn175ThrfsTer52)	NC_000017.10:g.59544993_59544996del	(Likely) pathogenic	1 lab	63cfd8255a
10:50723684 ERCC6 G>A	10	50723684	50723684	G	A	ERCC6	c.1397+8395C>T	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50723684G>A	(Likely) benign	1 lab	63d6bf74c3
5:156022034 SGCD G>C	5	156022034	156022034	G	C	SGCD	c.475G>C	NM_000337.6	NP_000328.2:p.(Val159Leu)	NC_000005.9:g.156022034G>C	VUS	1 lab	63d82b15fd
7:151927115 KMT2C G>A	7	151927115	151927115	G	A	KMT2C	c.2872-3C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151927115G>A	(Likely) benign	1 lab	63df26060a
15:56387061 RFX7 A>AGTGGGT	15	56387061	56387088	A	AGTGGGT	RFX7	c.2859_2864dup	NM_022841.7	NP_073752.6:p.(Pro964_Thr965dup)	NC_000015.9:g.56387083_56387088dup	(Likely) benign	1 lab	63e1394c39
17:56650649 TEX14 T>C	17	56650649	56650649	T	C	TEX14	c.3524A>G	NM_198393.4	NP_938207.2:p.(Asp1175Gly)	NC_000017.10:g.56650649T>C	VUS	1 lab	63e7f5495a
X:18959714 PHKA2 G>A	X	18959714	18959714	G	A	PHKA2	c.797C>T	NM_000292.3	NP_000283.1:p.(Pro266Leu)	NC_000023.10:g.18959714G>A	(Likely) pathogenic	1 lab	63e91a2b1b
16:71807124 AP1G1 C>CT	16	71807124	71807130	C	CT	AP1G1	c.467dup	NM_001030007.2	NP_001025178.1:p.(Ala157GlyfsTer14)	NC_000016.9:g.71807130dup	(Likely) pathogenic	1 lab	63f01f78b0
21:38884572 DYRK1A A>G	21	38884572	38884572	A	G	DYRK1A	c.2030A>G	NM_001396.5	NP_001387.2:p.(Asn677Ser)	NC_000021.8:g.38884572A>G	VUS	1 lab	63f1cb9bb4
5:156890346 NIPAL4 G>A	5	156890346	156890346	G	A	NIPAL4	c.277+5G>A	NM_001099287.2	NP_001092757.2:p.?	NC_000005.9:g.156890346G>A	(Likely) pathogenic	1 lab	63f51bdd7e
2:191897719 STAT4 G>C	2	191897719	191897719	G	C	STAT4	c.2009C>G	NM_003151.4	NP_003142.1:p.(Ala670Gly)	NC_000002.11:g.191897719G>C	VUS	1 lab	63f633fe9a
18:21140271 NPC1 A>G	18	21140271	21140271	A	G	NPC1	c.805T>C	NM_000271.5	NP_000262.2:p.(Tyr269His)	NC_000018.9:g.21140271A>G	VUS	1 lab	63f6bc6c44
4:96045056 BMPR1B C>T	4	96045056	96045056	C	T	BMPR1B	c.445C>T	NM_001203.3	NP_001194.1:p.(Arg149Trp)	NC_000004.11:g.96045056C>T	(Likely) benign	1 lab	63f7fa4aac
2:240016738 HDAC4 C>T	2	240016738	240016738	C	T	HDAC4	c.2233G>A	NM_006037.4	NP_006028.2:p.(Val745Met)	NC_000002.11:g.240016738C>T	(Likely) benign	1 lab	63f8596b95
22:21174065 PI4KA C>T	22	21174065	21174065	C	T	PI4KA	c.653G>A	NM_058004.4	NP_477352.3:p.(Arg218His)	NC_000022.10:g.21174065C>T	VUS	1 lab	63fd43e147
10:76790089 KAT6B A>AT	10	76790089	76790091	A	AT	KAT6B	c.5509dup	NM_012330.4	NP_036462.2:p.(Ser1837PhefsTer19)	NC_000010.10:g.76790091dup	(Likely) pathogenic	1 lab	6403fde47d
2:21231165 APOB T>C	2	21231165	21231165	T	C	APOB	c.8575A>G	NM_000384.3	NP_000375.3:p.(Ser2859Gly)	NC_000002.11:g.21231165T>C	(Likely) benign	1 lab	640b3fbd18
22:24129411 SMARCB1 C>A	22	24129411	24129411	C	A	SMARCB1	c.55C>A	NM_003073.5	NP_003064.2:p.(Leu19Met)	NC_000022.10:g.24129411C>A	VUS	1 lab	640e8d57ea
10:75519959 SEC24C G>A	10	75519959	75519959	G	A	SEC24C	c.665G>A	NM_004922.4	NP_004913.2:p.(Arg222Gln)	NC_000010.10:g.75519959G>A	VUS	1 lab	6411b951fc
2:46583277 EPAS1 C>CCG	2	46583277	46583279	C	CCG	EPAS1	c.218-12_218-11insGC	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583278_46583279insGC	(Likely) benign	1 lab	64148eb907
16:30976101 SETD1A G>GTCCTCCTCGTCATCCTCT	16	30976101	30976130	G	GTCCTCCTCGTCATCCTCT	SETD1A	c.1050_1067dup	NM_014712.3	NP_055527.1:p.(Ser352_Ser357dup)	NC_000016.9:g.30976113_30976130dup	VUS	1 lab	641c66bdb0
2:31589847 XDH G>A	2	31589847	31589847	G	A	XDH	c.2211C>T	NM_000379.4	NP_000370.2:p.(Ile737=)	NC_000002.11:g.31589847G>A	(Likely) benign	1 lab	64623e0a75
16:3827631 CREBBP C>T	16	3827631	3827631	C	T	CREBBP	c.2141G>A	NM_004380.3	NP_004371.2:p.(Arg714His)	NC_000016.9:g.3827631C>T	VUS	1 lab	64202677c9
17:17699012 RAI1 C>T	17	17699012	17699012	C	T	RAI1	c.2750C>T	NM_030665.4	NP_109590.3:p.(Pro917Leu)	NC_000017.10:g.17699012C>T	VUS	1 lab	64292930f0
12:111772320 CUX2 C>T	12	111772320	111772320	C	T	CUX2	c.3002C>T	NM_015267.4	NP_056082.2:p.(Pro1001Leu)	NC_000012.11:g.111772320C>T	(Likely) benign	1 lab	642f15def9
19:8467153 RAB11B C>T	19	8467153	8467153	C	T	RAB11B	c.420C>T	NM_004218.4	NP_004209.2:p.(Arg140=)	NC_000019.9:g.8467153C>T	(Likely) benign	1 lab	6430807a5e
16:81946207 PLCG2 A>C	16	81946207	81946207	A	C	PLCG2	c.1940A>C	NM_002661.5	NP_002652.2:p.(Tyr647Ser)	NC_000016.9:g.81946207A>C	(Likely) benign	1 lab	6432711cbe
9:38396862 ALDH1B1 T>C	9	38396862	38396862	T	C	ALDH1B1	c.1117T>C	NM_000692.5	NP_000683.3:p.(Tyr373His)	NC_000009.11:g.38396862T>C	VUS	1 lab	643ab090a4
17:29679277 NF1 C>T	17	29679277	29679277	C	T	NF1	c.7397C>T	NM_000267.3	NP_000258.1:p.(Thr2466Ile)	NC_000017.10:g.29679277C>T	VUS	1 lab	643e09734f
18:21441619 LAMA3 A>T	18	21441619	21441619	A	T	LAMA3	c.4432A>T	NM_198129.4	NP_937762.2:p.(Met1478Leu)	NC_000018.9:g.21441619A>T	VUS	1 lab	643e146749
19:39993560 DLL3 T>G	19	39993560	39993560	T	G	DLL3	c.515T>G	NM_016941.4	NP_058637.1:p.(Phe172Cys)	NC_000019.9:g.39993560T>G	(Likely) benign	1 lab	64626017c6
9:138590941 SOHLH1 C>T	9	138590941	138590941	C	T	SOHLH1	c.97G>A	NM_001101677.2	NP_001095147.2:p.(Glu33Lys)	NC_000009.11:g.138590941C>T	VUS	1 lab	6442f8d0a1
4:102004360 PPP3CA G>C	4	102004360	102004360	G	C	PPP3CA	c.843C>G	NM_000944.5	NP_000935.1:p.(His281Gln)	NC_000004.11:g.102004360G>C	(Likely) pathogenic	1 lab	6447131663
2:220100822 ANKZF1 G>A	2	220100822	220100822	G	A	ANKZF1	c.2057+5G>A	NM_018089.3	NP_060559.2:p.?	NC_000002.11:g.220100822G>A	VUS	1 lab	6448b06f6d
12:122281735 HPD G>A	12	122281735	122281735	G	A	HPD	c.835C>T	NM_002150.3	NP_002141.2:p.(Arg279Cys)	NC_000012.11:g.122281735G>A	VUS	1 lab	644b5a0643
X:153660228 ATP6AP1 A>G	X	153660228	153660228	A	G	ATP6AP1	c.341A>G	NM_001183.6	NP_001174.2:p.(Asp114Gly)	NC_000023.10:g.153660228A>G	VUS	1 lab	644d166f82
2:32341208 SPAST A>T	2	32341208	32341208	A	T	SPAST	c.1025A>T	NM_014946.4	NP_055761.2:p.(Asp342Val)	NC_000002.11:g.32341208A>T	VUS	1 lab	644e645ea7
2:179472946 TTN A>T	2	179472946	179472946	A	T	TTN	c.52664T>A	NM_001267550.2	NP_001254479.2:p.(Phe17555Tyr)	NC_000002.11:g.179472946A>T	VUS	1 lab	644e72abbb
17:41201199 BRCA1 C>T	17	41201199	41201199	C	T	BRCA1	c.5345G>A	NM_007294.4	NP_009225.1:p.(Trp1782Ter)	NC_000017.10:g.41201199C>T	(Likely) pathogenic	1 lab	6452ad085c
15:44900670 SPG11 G>C	15	44900670	44900670	G	C	SPG11	c.3425C>G	NM_025137.4	NP_079413.3:p.(Ser1142Cys)	NC_000015.9:g.44900670G>C	VUS	1 lab	6455c9ee31
2:158634702 ACVR1 C>T	2	158634702	158634702	C	T	ACVR1	c.484G>A	NM_001105.5	NP_001096.1:p.(Val162Met)	NC_000002.11:g.158634702C>T	(Likely) benign	1 lab	645beeac4a
1:78408288 NEXN T>C	1	78408288	78408288	T	C	NEXN	c.1802T>C	NM_144573.4	NP_653174.3:p.(Phe601Ser)	NC_000001.10:g.78408288T>C	VUS	1 lab	6466154214
8:72268693 EYA1 T>G	8	72268693	72268693	T	G	EYA1	c.-5+4A>C	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72268693T>G	(Likely) benign	1 lab	6467876997
16:139753 NPRL3 G>A	16	139753	139753	G	A	NPRL3	c.1309C>T	NM_001077350.3	NP_001070818.1:p.(Arg437Cys)	NC_000016.9:g.139753G>A	VUS	1 lab	6467a647c8
6:7585678 DSP A>T	6	7585678	7585678	A	T	DSP	c.8183A>T	NM_004415.4	NP_004406.2:p.(Glu2728Val)	NC_000006.11:g.7585678A>T	VUS	1 lab	646a7bbe58
12:98909877 TMPO G>C	12	98909877	98909877	G	C	TMPO	c.232G>C	NM_001032283.3	NP_001027454.1:p.(Gly78Arg)	NC_000012.11:g.98909877G>C	VUS	1 lab	646abf9168
3:178951955 PIK3CA A>G	3	178951955	178951955	A	G	PIK3CA	c.3010A>G	NM_006218.4	NP_006209.2:p.(Met1004Val)	NC_000003.11:g.178951955A>G	(Likely) pathogenic	1 lab	646c92906e
17:41276029 BRCA1 C>CG	17	41276029	41276030	C	CG	BRCA1	c.80+4_80+5insC	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276029_41276030insG	VUS	1 lab	646e94148d
1:244218289 ZBTB18 C>T	1	244218289	244218289	C	T	ZBTB18	c.1213C>T	NM_205768.3	NP_991331.1:p.(Gln405Ter)	NC_000001.10:g.244218289C>T	(Likely) pathogenic	1 lab	647732b885
1:24130961 HMGCL C>T	1	24130961	24130961	C	T	HMGCL	c.805G>A	NM_000191.3	NP_000182.2:p.(Ala269Thr)	NC_000001.10:g.24130961C>T	VUS	1 lab	647a3aee46
6:56481967 DST G>A	6	56481967	56481967	G	A	DST	c.6298C>T	NM_001723.7	NP_001714.1:p.(Gln2100Ter)	NC_000006.11:g.56481967G>A	(Likely) pathogenic	1 lab	6484d6e2a9
6:32410987 HLA-DRA A>G	6	32410987	32410987	A	G	HLA-DRA	c.354A>G	NM_019111.5	NP_061984.2:p.(Thr118=)	NC_000006.11:g.32410987A>G	(Likely) benign	1 lab	64869097a8
4:3162111 HTT A>G	4	3162111	3162111	A	G	HTT	c.3862A>G	NM_002111.8	NP_002102.4:p.(Ile1288Val)	NC_000004.11:g.3162111A>G	VUS	1 lab	64883974ae
5:1212515 SLC6A19 C>A	5	1212515	1212515	C	A	SLC6A19	c.579C>A	NM_001003841.3	NP_001003841.1:p.(Ile193=)	NC_000005.9:g.1212515C>A	(Likely) benign	1 lab	d9e725d105
5:14498749 TRIO G>GGTAAGCA	5	14498749	14498756	G	GGTAAGCA	TRIO	c.8332+1_8332+7dup	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14498750_14498756dup	VUS	1 lab	648a96c152
6:152686079 SYNE1 T>C	6	152686079	152686079	T	C	SYNE1	c.10069A>G	NM_033071.4	NP_149062.2:p.(Asn3357Asp)	NC_000006.11:g.152686079T>C	VUS	1 lab	648b18f258
12:121434630 HNF1A C>CTCATTCAT	12	121434630	121434646	C	CTCATTCAT	HNF1A	c.1309+94_1309+101dup	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121434639_121434646dup	(Likely) benign	1 lab	648d5f4700
3:130717162 ATP2C1 C>T	3	130717162	130717162	C	T	ATP2C1	c.2416C>T	NM_014382.5	NP_055197.2:p.(Arg806Ter)	NC_000003.11:g.130717162C>T	(Likely) pathogenic	1 lab	648de89f86
2:179453735 TTN G>T	2	179453735	179453735	G	T	TTN	c.62717C>A	NM_001267550.2	NP_001254479.2:p.(Thr20906Lys)	NC_000002.11:g.179453735G>T	VUS	1 lab	64903dc5ce
16:30722169 SRCAP G>A	16	30722169	30722169	G	A	SRCAP	c.1228+1G>A	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30722169G>A	VUS	1 lab	64927413c7
13:32912702 BRCA2 TC>T	13	32912702	32912703	TC	T	BRCA2	c.4211del	NM_000059.4	NP_000050.3:p.(Ser1404Ter)	NC_000013.10:g.32912703del	(Likely) pathogenic	1 lab	64935dd949
14:36217850 RALGAPA1 G>A	14	36217850	36217850	G	A	RALGAPA1	c.1192C>T	NM_014990.3	NP_055805.1:p.(Arg398Cys)	NC_000014.8:g.36217850G>A	VUS	1 lab	6494031089
3:53839132 CACNA1D G>A	3	53839132	53839132	G	A	CACNA1D	c.5768G>A	NM_000720.4	NP_000711.1:p.(Arg1923Gln)	NC_000003.11:g.53839132G>A	VUS	1 lab	649aba906a
11:26663480 ANO3 C>T	11	26663480	26663480	C	T	ANO3	c.2179C>T	NM_031418.4	NP_113606.2:p.(Arg727Trp)	NC_000011.9:g.26663480C>T	VUS	1 lab	649d324ef0
1:11861234 MTHFR G>C	1	11861234	11861234	G	C	MTHFR	c.582C>G	NM_001330358.2	NP_001317287.1:p.(Ile194Met)	NC_000001.10:g.11861234G>C	(Likely) pathogenic	1 lab	649d9f73fc
14:23863491 MYH6 A>AT	14	23863491	23863492	A	AT	MYH6	c.2470dup	NM_002471.4	NP_002462.2:p.(Met824AsnfsTer65)	NC_000014.8:g.23863492dup	VUS	1 lab	649de09e92
9:130581943 ENG C>T	9	130581943	130581943	C	T	ENG	c.1273-4G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130581943C>T	(Likely) benign	1 lab	649ea01575
12:33003827 PKP2 C>A	12	33003827	33003827	C	A	PKP2	c.1251G>T	NM_004572.4	NP_004563.2:p.(Gly417=)	NC_000012.11:g.33003827C>A	(Likely) benign	1 lab	649eedcced
2:179418928 TTN G>C	2	179418928	179418928	G	C	TTN	c.88910C>G	NM_001267550.2	NP_001254479.2:p.(Pro29637Arg)	NC_000002.11:g.179418928G>C	VUS	1 lab	64a001df2b
17:39739526 KRT14 A>G	17	39739526	39739526	A	G	KRT14	c.1235T>C	NM_000526.5	NP_000517.3:p.(Ile412Thr)	NC_000017.10:g.39739526A>G	(Likely) pathogenic	1 lab	64a249c6e9
3:183368216 KLHL24 A>T	3	183368216	183368216	A	T	KLHL24	c.72A>T	NM_017644.3	NP_060114.2:p.(Arg24=)	NC_000003.11:g.183368216A>T	(Likely) benign	1 lab	64a2ab941d
16:85687915 GSE1 G>A	16	85687915	85687915	G	A	GSE1	c.458G>A	NM_014615.5	NP_055430.1:p.(Arg153Gln)	NC_000016.9:g.85687915G>A	VUS	1 lab	64a3741c04
17:17697389 RAI1 C>T	17	17697389	17697389	C	T	RAI1	c.1127C>T	NM_030665.4	NP_109590.3:p.(Pro376Leu)	NC_000017.10:g.17697389C>T	VUS	1 lab	64adf5631a
17:39914023 JUP G>A	17	39914023	39914023	G	A	JUP	c.1787C>T	NM_002230.4	NP_002221.1:p.(Ser596Leu)	NC_000017.10:g.39914023G>A	VUS	1 lab	64b10fe247
18:6975995 LAMA1 G>C	18	6975995	6975995	G	C	LAMA1	c.6430C>G	NM_005559.4	NP_005550.2:p.(Leu2144Val)	NC_000018.9:g.6975995G>C	(Likely) benign	1 lab	64b79b9cca
21:47574062 FTCD C>A	21	47574062	47574062	C	A	FTCD	c.238+1G>T	NM_001320412.2	NP_001307341.1:p.?	NC_000021.8:g.47574062C>A	(Likely) pathogenic	1 lab	64b7c51d14
12:49423187 KMT2D A>T	12	49423187	49423187	A	T	KMT2D	c.14072T>A	NM_003482.4	NP_003473.3:p.(Val4691Asp)	NC_000012.11:g.49423187A>T	VUS	1 lab	64b8e9cc9f
1:43900871 SZT2 C>T	1	43900871	43900871	C	T	SZT2	c.5734C>T	NM_015284.4	NP_056099.3:p.(Arg1912Ter)	NC_000001.10:g.43900871C>T	(Likely) pathogenic	1 lab	64bae35276
2:179600249 TTN A>G	2	179600249	179600249	A	G	TTN	c.14924T>C	NM_001267550.2	NP_001254479.2:p.(Val4975Ala)	NC_000002.11:g.179600249A>G	VUS	1 lab	64c501a01c
11:108172455 ATM A>G	11	108172455	108172455	A	G	ATM	c.5258A>G	NM_000051.4	NP_000042.3:p.(Tyr1753Cys)	NC_000011.9:g.108172455A>G	VUS	1 lab	64c8455817
16:70286782 AARS1 T>G	16	70286782	70286782	T	G	AARS1	c.2749A>C	NM_001605.3	NP_001596.2:p.(Ser917Arg)	NC_000016.9:g.70286782T>G	VUS	1 lab	64ca530efb
17:41201182 BRCA1 C>A	17	41201182	41201182	C	A	BRCA1	c.5362G>T	NM_007294.4	NP_009225.1:p.(Gly1788Cys)	NC_000017.10:g.41201182C>A	(Likely) pathogenic	1 lab	64cc30cdee
1:39782121 MACF1 G>A	1	39782121	39782121	G	A	MACF1	c.3523G>A	NM_012090.5	NP_036222.3:p.(Gly1175Ser)	NC_000001.10:g.39782121G>A	VUS	1 lab	64cdeda416
16:1412498 GNPTG T>C	16	1412498	1412498	T	C	GNPTG	c.572T>C	NM_032520.5	NP_115909.1:p.(Val191Ala)	NC_000016.9:g.1412498T>C	VUS	1 lab	64d03ef29d
16:85695221 GSE1 G>A	16	85695221	85695221	G	A	GSE1	c.1798G>A	NM_001134473.3	NP_001127945.1:p.(Gly600Arg)	NC_000016.9:g.85695221G>A	VUS	1 lab	64d083b5d3
1:181685224 CACNA1E G>C	1	181685224	181685224	G	C	CACNA1E	c.1274G>C	NM_000721.4	NP_000712.2:p.(Arg425Pro)	NC_000001.10:g.181685224G>C	VUS	1 lab	64d0c6d859
12:53201413 KRT4 T>C	12	53201413	53201413	T	C	KRT4	c.1346+15A>G	NM_002272.4	NP_002263.3:p.?	NC_000012.11:g.53201413T>C	(Likely) benign	1 lab	64d294bd5b
15:51503881 CYP19A1 T>A	15	51503881	51503881	T	A	CYP19A1	c.1264-628A>T	NM_031226.3	NP_112503.1:p.?	NC_000015.9:g.51503881T>A	(Likely) benign	1 lab	64d72c0822
17:7311668 NLGN2 G>GGCCTCGGCA	17	7311668	7311685	G	GGCCTCGGCA	NLGN2	c.103_111dup	NM_020795.4	NP_065846.1:p.(Ser35_Gly37dup)	NC_000017.10:g.7311677_7311685dup	VUS	1 lab	64d82014f6
12:52761053 KRT85 C>T	12	52761053	52761053	C	T	KRT85	c.137G>A	NM_002283.4	NP_002274.1:p.(Arg46Gln)	NC_000012.11:g.52761053C>T	VUS	1 lab	64dae12437
8:61748802 CHD7 C>T	8	61748802	61748802	C	T	CHD7	c.3949C>T	NM_017780.4	NP_060250.2:p.(Arg1317Cys)	NC_000008.10:g.61748802C>T	VUS	1 lab	64dbf02a08
14:23884699 MYH7 T>C	14	23884699	23884699	T	C	MYH7	c.5174A>G	NM_000257.4	NP_000248.2:p.(Asn1725Ser)	NC_000014.8:g.23884699T>C	VUS	1 lab	64dee14c8e
16:81298255 BCO1 G>A	16	81298255	81298255	G	A	BCO1	c.482G>A	NM_017429.3	NP_059125.2:p.(Arg161His)	NC_000016.9:g.81298255G>A	(Likely) benign	1 lab	64ec4b473d
17:61392024 TANC2 C>T	17	61392024	61392024	C	T	TANC2	c.1213C>T	NM_025185.4	NP_079461.2:p.(Pro405Ser)	NC_000017.10:g.61392024C>T	VUS	1 lab	64ecefd22a
6:32726838 HLA-DQB2 C>T	6	32726838	32726838	C	T	HLA-DQB2	c.435G>A	NM_001198858.2	NP_001185787.1:p.(Ser145=)	NC_000006.11:g.32726838C>T	(Likely) benign	1 lab	64ecfd33da
14:77493772 IRF2BPL G>GCTA	14	77493772	77493775	G	GCTA	IRF2BPL	c.363_364insTAG	NM_024496.4	NP_078772.1:p.(Gln122Ter)	NC_000014.8:g.77493774_77493775insACT	(Likely) pathogenic	1 lab	64ed46af3e
6:152708464 SYNE1 G>T	6	152708464	152708464	G	T	SYNE1	c.8230C>A	NM_182961.4	NP_892006.3:p.(Gln2744Lys)	NC_000006.11:g.152708464G>T	(Likely) benign	1 lab	64ef02af49
22:36661536 APOL1 C>A	22	36661536	36661536	C	A	APOL1	c.702C>A	NM_145343.2	NP_663318.1:p.(Ala234=)	NC_000022.10:g.36661536C>A	(Likely) benign	1 lab	64f14f84ea
3:9934605 JAGN1 T>C	3	9934605	9934605	T	C	JAGN1	c.96T>C	NM_032492.4	NP_115881.3:p.(Thr32=)	NC_000003.11:g.9934605T>C	(Likely) benign	1 lab	64f48002a6
7:104752410 KMT2E C>G	7	104752410	104752410	C	G	KMT2E	c.4207C>G	NM_182931.3	NP_891847.1:p.(Gln1403Glu)	NC_000007.13:g.104752410C>G	VUS	1 lab	64f486e04c
20:42788266 JPH2 G>A	20	42788266	42788266	G	A	JPH2	c.1161C>T	NM_020433.5	NP_065166.2:p.(Ala387=)	NC_000020.10:g.42788266G>A	(Likely) benign	1 lab	64f4ea25b3
8:41571776 ANK1 C>T	8	41571776	41571776	C	T	ANK1	c.1702-4G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41571776C>T	(Likely) benign	1 lab	64f816f43e
19:49699890 TRPM4 C>T	19	49699890	49699890	C	T	TRPM4	c.2404C>T	NM_017636.4	NP_060106.2:p.(Leu802Phe)	NC_000019.9:g.49699890C>T	VUS	1 lab	64f90455a8
15:69732416 KIF23 TGTGA>T	15	69732416	69732422	TGTGA	T	KIF23	c.1887+3_1887+6del	NM_138555.4	NP_612565.1:p.?	NC_000015.9:g.69732419_69732422del	VUS	1 lab	64fcb399d7
1:151655838 SNX27 G>C	1	151655838	151655838	G	C	SNX27	c.1156G>C	NM_030918.6	NP_112180.4:p.(Asp386His)	NC_000001.10:g.151655838G>C	(Likely) benign	1 lab	650452fe53
7:128480668 FLNC C>T	7	128480668	128480668	C	T	FLNC	c.1616C>T	NM_001458.5	NP_001449.3:p.(Pro539Leu)	NC_000007.13:g.128480668C>T	VUS	1 lab	650776398c
18:3089188 MYOM1 A>G	18	3089188	3089188	A	G	MYOM1	c.4121T>C	NM_003803.4	NP_003794.3:p.(Val1374Ala)	NC_000018.9:g.3089188A>G	VUS	1 lab	6508bf0ddb
9:131344977 SPTAN1 T>G	9	131344977	131344977	T	G	SPTAN1	c.1655T>G	NM_001130438.3	NP_001123910.1:p.(Leu552Trp)	NC_000009.11:g.131344977T>G	VUS	1 lab	650d4bbae7
2:220283583 DES C>T	2	220283583	220283583	C	T	DES	c.399C>T	NM_001927.4	NP_001918.3:p.(Asn133=)	NC_000002.11:g.220283583C>T	(Likely) benign	1 lab	650fbd8b63
10:67680304 CTNNA3 C>T	10	67680304	67680304	C	T	CTNNA3	c.2472G>A	NM_013266.4	NP_037398.2:p.(Met824Ile)	NC_000010.10:g.67680304C>T	VUS	1 lab	6510826fdb
11:2188229 TH G>T	11	2188229	2188229	G	T	TH	c.822C>A	NM_199292.3	NP_954986.2:p.(Tyr274Ter)	NC_000011.9:g.2188229G>T	(Likely) pathogenic	1 lab	65144be7fd
11:108382317 EXPH5 G>C	11	108382317	108382317	G	C	EXPH5	c.3917C>G	NM_015065.3	NP_055880.2:p.(Ser1306Ter)	NC_000011.9:g.108382317G>C	(Likely) pathogenic	1 lab	651a1a051d
X:73812810 RLIM T>G	X	73812810	73812810	T	G	RLIM	c.340A>C	NM_183353.3	NP_899196.1:p.(Ser114Arg)	NC_000023.10:g.73812810T>G	(Likely) pathogenic	1 lab	651da53902
22:28194632 MN1 C>G	22	28194632	28194632	C	G	MN1	c.1900G>C	NM_002430.3	NP_002421.3:p.(Gly634Arg)	NC_000022.10:g.28194632C>G	VUS	1 lab	651dc2a1d2
12:108956417 ISCU T>G	12	108956417	108956417	T	G	ISCU	c.19T>G	NM_213595.4	NP_998760.1:p.(Phe7Val)	NC_000012.11:g.108956417T>G	(Likely) benign	1 lab	651e5c57aa
10:21827796 MLLT10 G>A	10	21827796	21827796	G	A	MLLT10	c.195G>A	NM_004641.4	NP_004632.1:p.(Pro65=)	NC_000010.10:g.21827796G>A	(Likely) benign	1 lab	6524a42b55
4:106157560 TET2 C>T	4	106157560	106157560	C	T	TET2	c.2461C>T	NM_001127208.3	NP_001120680.1:p.(Gln821Ter)	NC_000004.11:g.106157560C>T	(Likely) pathogenic	1 lab	6524b0f521
18:55368301 ATP8B1 T>C	18	55368301	55368301	T	C	ATP8B1	c.524A>G	NM_005603.6	NP_005594.2:p.(Asn175Ser)	NC_000018.9:g.55368301T>C	VUS	1 lab	6525b07245
6:152688440 SYNE1 C>T	6	152688440	152688440	C	T	SYNE1	c.9885G>A	NM_182961.4	NP_892006.3:p.(Trp3295Ter)	NC_000006.11:g.152688440C>T	(Likely) pathogenic	1 lab	65268401db
7:104753325 KMT2E C>G	7	104753325	104753325	C	G	KMT2E	c.5122C>G	NM_182931.3	NP_891847.1:p.(Gln1708Glu)	NC_000007.13:g.104753325C>G	VUS	1 lab	652d7fcfda
9:131367372 SPTAN1 A>G	9	131367372	131367372	A	G	SPTAN1	c.3779A>G	NM_001130438.3	NP_001123910.1:p.(Asn1260Ser)	NC_000009.11:g.131367372A>G	(Likely) benign	1 lab	652f6db658
5:156738677 CYFIP2 C>T	5	156738677	156738677	C	T	CYFIP2	c.998C>T	NM_001037333.3	NP_001032410.1:p.(Thr333Met)	NC_000005.9:g.156738677C>T	VUS	1 lab	653230a755
22:19929206 TXNRD2 G>GC	22	19929206	19929210	G	GC	TXNRD2	c.103+17dup	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19929210dup	(Likely) benign	1 lab	6533c6a01c
19:855742 ELANE G>A	19	855742	855742	G	A	ELANE	c.545G>A	NM_001972.4	NP_001963.1:p.(Arg182His)	NC_000019.9:g.855742G>A	VUS	1 lab	654c8e29ab
14:24619910 RNF31 G>A	14	24619910	24619910	G	A	RNF31	c.1301G>A	NM_017999.5	NP_060469.4:p.(Arg434Gln)	NC_000014.8:g.24619910G>A	VUS	1 lab	6536f24eab
3:128979639 COPG1 G>C	3	128979639	128979639	G	C	COPG1	c.1117G>C	NM_016128.4	NP_057212.1:p.(Asp373His)	NC_000003.11:g.128979639G>C	VUS	1 lab	6537c0510f
6:51771069 PKHD1 C>G	6	51771069	51771069	C	G	PKHD1	c.6752G>C	NM_138694.4	NP_619639.3:p.(Gly2251Ala)	NC_000006.11:g.51771069C>G	VUS	1 lab	653859fbdb
1:173931137 RC3H1 G>A	1	173931137	173931137	G	A	RC3H1	c.1928C>T	NM_172071.4	NP_742068.1:p.(Pro643Leu)	NC_000001.10:g.173931137G>A	VUS	1 lab	6539185a6b
5:161324161 GABRA1 C>G	5	161324161	161324161	C	G	GABRA1	c.1104C>G	NM_000806.5	NP_000797.2:p.(Tyr368Ter)	NC_000005.9:g.161324161C>G	VUS	1 lab	653d4dc6d7
3:180397101 CCDC39 T>G	3	180397101	180397101	T	G	CCDC39	c.68A>C	NM_181426.2	NP_852091.1:p.(Glu23Ala)	NC_000003.11:g.180397101T>G	VUS	1 lab	653eab2f08
2:69472439 ANTXR1 C>T	2	69472439	69472439	C	T	ANTXR1	c.1517C>T	NM_032208.3	NP_115584.1:p.(Pro506Leu)	NC_000002.11:g.69472439C>T	(Likely) benign	1 lab	653fc78c2b
2:172329458 DCAF17 G>T	2	172329458	172329458	G	T	DCAF17	c.982-918G>T	NM_025000.4	NP_079276.2:p.?	NC_000002.11:g.172329458G>T	(Likely) benign	1 lab	654aeaf815
9:113550168 MUSK T>C	9	113550168	113550168	T	C	MUSK	c.1927+50T>C	NM_005592.4	NP_005583.1:p.?	NC_000009.11:g.113550168T>C	(Likely) benign	1 lab	654b41672b
3:46942966 PTH1R T>C	3	46942966	46942966	T	C	PTH1R	c.1112T>C	NM_000316.3	NP_000307.1:p.(Ile371Thr)	NC_000003.11:g.46942966T>C	VUS	1 lab	654d2360ae
1:226076583 LEFTY1 C>T	1	226076583	226076583	C	T	LEFTY1	c.184G>A	NM_020997.4	NP_066277.1:p.(Val62Met)	NC_000001.10:g.226076583C>T	VUS	1 lab	65528bf409
3:184910072 EHHADH C>T	3	184910072	184910072	C	T	EHHADH	c.2114G>A	NM_001966.4	NP_001957.2:p.(Gly705Glu)	NC_000003.11:g.184910072C>T	VUS	1 lab	6554aa93ab
3:52598086 PBRM1 ATCT>A	3	52598086	52598089	ATCT	A	PBRM1	c.3777_3779del	NM_018313.5	NP_060783.3:p.(Asp1261del)	NC_000003.11:g.52598087_52598089del	VUS	1 lab	65660616d0
20:62076112 KCNQ2 A>G	20	62076112	62076112	A	G	KCNQ2	c.590T>C	NM_172107.4	NP_742105.1:p.(Leu197Pro)	NC_000020.10:g.62076112A>G	(Likely) pathogenic	1 lab	65677cead1
8:141445349 TRAPPC9 AAGAAAACAAAAAACAAAAACC>A	8	141445349	141445393	AAGAAAACAAAAAACAAAAACC	A	TRAPPC9	c.731-31_731-11del	NM_031466.8	NP_113654.5:p.?	NC_000008.10:g.141445373_141445393del	(Likely) benign	1 lab	6569cd9641
6:31637285 CSNK2B G>C	6	31637285	31637285	G	C	CSNK2B	c.557G>C	NM_001320.7	NP_001311.3:p.(Arg186Thr)	NC_000006.11:g.31637285G>C	VUS	1 lab	656bbc31f0
17:41243913 BRCA1 G>C	17	41243913	41243913	G	C	BRCA1	c.3635C>G	NM_007294.4	NP_009225.1:p.(Ser1212Ter)	NC_000017.10:g.41243913G>C	(Likely) pathogenic	1 lab	65a0c5997b
12:102128790 SYCP3 T>C	12	102128790	102128790	T	C	SYCP3	c.268A>G	NM_153694.5	NP_710161.1:p.(Lys90Glu)	NC_000012.11:g.102128790T>C	VUS	1 lab	656f3201c7
15:51221276 AP4E1 C>A	15	51221276	51221276	C	A	AP4E1	c.613C>A	NM_007347.5	NP_031373.2:p.(His205Asn)	NC_000015.9:g.51221276C>A	VUS	1 lab	657192fe3f
5:176631213 NSD1 T>A	5	176631213	176631213	T	A	NSD1	c.1156T>A	NM_022455.5	NP_071900.2:p.(Phe386Ile)	NC_000005.9:g.176631213T>A	VUS	1 lab	6573056895
9:312113 DOCK8 C>T	9	312113	312113	C	T	DOCK8	c.688C>T	NM_203447.4	NP_982272.2:p.(Arg230Trp)	NC_000009.11:g.312113C>T	VUS	1 lab	65737fb8ab
16:53706901 RPGRIP1L C>T	16	53706901	53706901	C	T	RPGRIP1L	c.910G>A	NM_015272.5	NP_056087.2:p.(Asp304Asn)	NC_000016.9:g.53706901C>T	VUS	1 lab	65748e2112
13:49039374 RB1 C>T	13	49039374	49039374	C	T	RB1	c.2359C>T	NM_000321.3	NP_000312.2:p.(Arg787Ter)	NC_000013.10:g.49039374C>T	(Likely) pathogenic	1 lab	6578692f26
11:77812075 ALG8 C>T	11	77812075	77812075	C	T	ALG8	c.1516G>A	NM_024079.5	NP_076984.2:p.(Ala506Thr)	NC_000011.9:g.77812075C>T	VUS	1 lab	657a7b745c
2:47657065 MSH2 C>G	2	47657065	47657065	C	G	MSH2	c.1261C>G	NM_000251.3	NP_000242.1:p.(Leu421Val)	NC_000002.11:g.47657065C>G	VUS	1 lab	657b07a383
2:179635360 TTN T>C	2	179635360	179635360	T	C	TTN	c.8159A>G	NM_001267550.2	NP_001254479.2:p.(Glu2720Gly)	NC_000002.11:g.179635360T>C	VUS	1 lab	657e67ab9c
7:65439920 GUSB G>A	7	65439920	65439920	G	A	GUSB	c.1051C>T	NM_000181.4	NP_000172.2:p.(His351Tyr)	NC_000007.13:g.65439920G>A	(Likely) pathogenic	1 lab	65802baa5f
18:11884453 GNAL C>G	18	11884453	11884453	C	G	GNAL	c.*3319C>G	NM_001142339.3	NP_001135811.1:p.?	NC_000018.9:g.11884453C>G	VUS	1 lab	6581e8bb65
10:292844 ZMYND11 G>A	10	292844	292844	G	A	ZMYND11	c.1089G>A	NM_006624.7	NP_006615.2:p.(Trp363Ter)	NC_000010.10:g.292844G>A	(Likely) pathogenic	1 lab	658c7272e3
2:179426702 TTN G>A	2	179426702	179426702	G	A	TTN	c.84157C>T	NM_001267550.2	NP_001254479.2:p.(Leu28053Phe)	NC_000002.11:g.179426702G>A	VUS	1 lab	658cd7090d
9:2029071 SMARCA2 C>T	9	2029071	2029071	C	T	SMARCA2	c.49C>T	NM_003070.5	NP_003061.3:p.(Pro17Ser)	NC_000009.11:g.2029071C>T	VUS	1 lab	658dd1d486
X:133549102 PHF6 C>T	X	133549102	133549102	C	T	PHF6	c.786C>T	NM_032458.3	NP_115834.1:p.(Asp262=)	NC_000023.10:g.133549102C>T	(Likely) benign	1 lab	658eaf6e25
X:148069050 AFF2 C>T	X	148069050	148069050	C	T	AFF2	c.3777C>T	NM_002025.4	NP_002016.2:p.(His1259=)	NC_000023.10:g.148069050C>T	(Likely) benign	1 lab	658f0b77fb
2:166210742 SCN2A G>C	2	166210742	166210742	G	C	SCN2A	c.2960G>C	NM_021007.3	NP_066287.2:p.(Ser987Thr)	NC_000002.11:g.166210742G>C	(Likely) pathogenic	1 lab	6593c554ce
X:153416373 OPN1LW G>A	X	153416373	153416373	G	A	OPN1LW	c.358G>A	NM_020061.6	NP_064445.2:p.(Val120Met)	NC_000023.10:g.153416373G>A	VUS	1 lab	659640bfab
1:201285758 PKP1 A>T	1	201285758	201285758	A	T	PKP1	c.779A>T	NM_000299.4	NP_000290.2:p.(Lys260Met)	NC_000001.10:g.201285758A>T	(Likely) benign	1 lab	659aa15162
9:130444747 STXBP1 T>G	9	130444747	130444747	T	G	STXBP1	c.1610T>G	NM_003165.6	NP_003156.1:p.(Leu537Arg)	NC_000009.11:g.130444747T>G	(Likely) pathogenic	1 lab	659deb78db
3:148868411 HPS3 C>T	3	148868411	148868411	C	T	HPS3	c.1189C>T	NM_032383.5	NP_115759.2:p.(Arg397Trp)	NC_000003.11:g.148868411C>T	(Likely) pathogenic	1 lab	65aaa82307
3:24164620 THRB C>T	3	24164620	24164620	C	T	THRB	c.1145-4G>A	NM_000461.5	NP_000452.2:p.?	NC_000003.11:g.24164620C>T	(Likely) benign	1 lab	65acf9ffbd
10:121436492 BAG3 GTGC>G	10	121436492	121436495	GTGC	G	BAG3	c.1427_1429del	NM_004281.4	NP_004272.2:p.(Val476_Arg477delinsGly)	NC_000010.10:g.121436493_121436495del	(Likely) pathogenic	1 lab	65b72a776c
17:40688520 NAGLU T>G	17	40688520	40688520	T	G	NAGLU	c.230T>G	NM_000263.4	NP_000254.2:p.(Val77Gly)	NC_000017.10:g.40688520T>G	VUS	1 lab	65c3f323e9
14:102508843 DYNC1H1 A>T	14	102508843	102508843	A	T	DYNC1H1	c.12398A>T	NM_001376.5	NP_001367.2:p.(Lys4133Met)	NC_000014.8:g.102508843A>T	VUS	1 lab	65c92a638a
1:7700567 CAMTA1 G>A	1	7700567	7700567	G	A	CAMTA1	c.618G>A	NM_015215.4	NP_056030.1:p.(Trp206Ter)	NC_000001.10:g.7700567G>A	(Likely) pathogenic	1 lab	65cbded986
16:8953046 CARHSP1 C>T	16	8953046	8953046	C	T	CARHSP1	c.140G>A	NM_001042476.2	NP_001035941.1:p.(Arg47Gln)	NC_000016.9:g.8953046C>T	VUS	1 lab	65ce3b8346
3:132402277 NPHP3 G>A	3	132402277	132402277	G	A	NPHP3	c.3662C>T	NM_153240.5	NP_694972.3:p.(Ala1221Val)	NC_000003.11:g.132402277G>A	VUS	1 lab	65d26d9036
1:173953670 RC3H1 C>T	1	173953670	173953670	C	T	RC3H1	c.319G>A	NM_172071.4	NP_742068.1:p.(Ala107Thr)	NC_000001.10:g.173953670C>T	VUS	1 lab	65d3396000
17:19728454 ULK2 C>G	17	19728454	19728454	C	G	ULK2	c.877G>C	NM_001142610.2	NP_001136082.1:p.(Gly293Arg)	NC_000017.10:g.19728454C>G	VUS	1 lab	65e6336443
5:39311251 C9 T>C	5	39311251	39311251	T	C	C9	c.1099A>G	NM_001737.5	NP_001728.1:p.(Met367Val)	NC_000005.9:g.39311251T>C	VUS	1 lab	65ebcd7e55
14:23883071 MYH7 A>C	14	23883071	23883071	A	C	MYH7	c.5687T>G	NM_000257.4	NP_000248.2:p.(Phe1896Cys)	NC_000014.8:g.23883071A>C	VUS	1 lab	65ee5946ca
6:33406326 SYNGAP1 TCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCC>T	6	33406326	33406403	TCAAGGATGCCATTGGTATGGCCCACACTCAGGCCCTCTTCTTCCCAAACCTGCCAGATGTCCACCCCAGACCC	T	SYNGAP1	c.1522_1531+63del	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33406331_33406403del	(Likely) pathogenic	1 lab	65f078ded9
11:72006547 CLPB G>C	11	72006547	72006547	G	C	CLPB	c.1565C>G	NM_030813.6	NP_110440.1:p.(Ala522Gly)	NC_000011.9:g.72006547G>C	VUS	1 lab	65f1696fa2
X:136648869 ZIC3 G>A	X	136648869	136648869	G	A	ZIC3	c.19G>A	NM_003413.4	NP_003404.1:p.(Gly7Arg)	NC_000023.10:g.136648869G>A	VUS	1 lab	65f24122cb
7:99786129 STAG3 C>T	7	99786129	99786129	C	T	STAG3	c.487C>T	NM_012447.4	NP_036579.2:p.(His163Tyr)	NC_000007.13:g.99786129C>T	VUS	1 lab	65f715c50b
3:11389502 ATG7 C>T	3	11389502	11389502	C	T	ATG7	c.1277C>T	NM_006395.3	NP_006386.1:p.(Pro426Leu)	NC_000003.11:g.11389502C>T	VUS	1 lab	65f846fa9b
8:30921667 WRN Ref too long to show for this DEL>C	8	30921667	30929663	Ref too long to show for this DEL	C	WRN	c.210-137_724+3820del	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30921668_30929663del	(Likely) pathogenic	1 lab	65fb81c45a
17:40635094 ATP6V0A1 A>G	17	40635094	40635094	A	G	ATP6V0A1	c.776A>G	NM_001130020.3	NP_001123492.1:p.(Gln259Arg)	NC_000017.10:g.40635094A>G	VUS	1 lab	660692cd28
8:100712113 VPS13B C>G	8	100712113	100712113	C	G	VPS13B	c.6482C>G	NM_017890.5	NP_060360.3:p.(Ser2161Ter)	NC_000008.10:g.100712113C>G	(Likely) pathogenic	1 lab	6606daaea4
15:51791394 DMXL2 T>C	15	51791394	51791394	T	C	DMXL2	c.4027A>G	NM_001174116.3	NP_001167587.1:p.(Thr1343Ala)	NC_000015.9:g.51791394T>C	VUS	1 lab	660ce5dd85
14:76429713 TGFB3 G>A	14	76429713	76429713	G	A	TGFB3	c.872C>T	NM_003239.5	NP_003230.1:p.(Pro291Leu)	NC_000014.8:g.76429713G>A	VUS	1 lab	66128d3925
15:52667552 MYO5A G>A	15	52667552	52667552	G	A	MYO5A	c.2526=	NM_000259.3	NP_000250.3:p.(Ile842=)	NC_000015.9:g.52667552G>A	(Likely) benign	1 lab	66130f1c33
12:53343266 KRT18 C>T	12	53343266	53343266	C	T	KRT18	c.309C>T	NM_000224.3	NP_000215.1:p.(Thr103=)	NC_000012.11:g.53343266C>T	(Likely) benign	1 lab	6616771c07
21:36164610 RUNX1 T>C	21	36164610	36164610	T	C	RUNX1	c.1265A>G	NM_001754.5	NP_001745.2:p.(Glu422Gly)	NC_000021.8:g.36164610T>C	(Likely) benign	1 lab	66191b9863
10:88469787 LDB3 G>A	10	88469787	88469787	G	A	LDB3	c.1226G>A	NM_001171610.2	NP_001165081.1:p.(Arg409Gln)	NC_000010.10:g.88469787G>A	VUS	1 lab	661eb817cd
4:84193281 COQ2 G>A	4	84193281	84193281	G	A	COQ2	c.737C>T	NM_015697.9	NP_056512.5:p.(Pro246Leu)	NC_000004.11:g.84193281G>A	VUS	1 lab	6622f3deb6
21:47746432 PCNT G>T	21	47746432	47746432	G	T	PCNT	c.196G>T	NM_006031.6	NP_006022.3:p.(Gly66Ter)	NC_000021.8:g.47746432G>T	(Likely) pathogenic	1 lab	6624600798
1:170705313 PRRX1 C>T	1	170705313	170705313	C	T	PRRX1	c.724C>T	NM_022716.4	NP_073207.1:p.(Pro242Ser)	NC_000001.10:g.170705313C>T	VUS	1 lab	66246e514d
2:179441042 TTN T>C	2	179441042	179441042	T	C	TTN	c.69817A>G	NM_001267550.2	NP_001254479.2:p.(Thr23273Ala)	NC_000002.11:g.179441042T>C	VUS	1 lab	6624bc102a
4:100479361 TRMT10A G>A	4	100479361	100479361	G	A	TRMT10A	c.193C>T	NM_152292.5	NP_689505.1:p.(Arg65Ter)	NC_000004.11:g.100479361G>A	(Likely) pathogenic	1 lab	66275b49eb
22:42606320 TCF20 C>A	22	42606320	42606320	C	A	TCF20	c.4992G>T	NM_005650.4	NP_005641.1:p.(Arg1664Ser)	NC_000022.10:g.42606320C>A	VUS	1 lab	6627a31931
2:178494173 PDE11A G>GGGA	2	178494173	178494179	G	GGGA	PDE11A	c.2761_2763dup	NM_016953.4	NP_058649.3:p.(Ser921dup)	NC_000002.11:g.178494177_178494179dup	(Likely) benign	1 lab	663172b9a7
9:138676681 KCNT1 C>T	9	138676681	138676681	C	T	KCNT1	c.3102C>T	NM_020822.3	NP_065873.2:p.(Ala1034=)	NC_000009.11:g.138676681C>T	(Likely) benign	1 lab	663732ec78
2:44059180 ABCG5 AG>A	2	44059180	44059181	AG	A	ABCG5	c.307del	NM_022436.3	NP_071881.1:p.(Leu103TrpfsTer13)	NC_000002.11:g.44059181del	(Likely) pathogenic	1 lab	663cf0569c
13:103515081 ERCC5 A>G	13	103515081	103515081	A	G	ERCC5	c.1582A>G	NM_000123.4	NP_000114.3:p.(Thr528Ala)	NC_000013.10:g.103515081A>G	VUS	1 lab	663db2caaf
21:45457731 TRAPPC10 G>T	21	45457731	45457731	G	T	TRAPPC10	c.208G>T	NM_003274.5	NP_003265.3:p.(Glu70Ter)	NC_000021.8:g.45457731G>T	VUS	1 lab	6642024aad
8:144906543 PUF60 C>A	8	144906543	144906543	C	A	PUF60	c.51G>T	NM_078480.3	NP_510965.1:p.(Gly17=)	NC_000008.10:g.144906543C>A	(Likely) benign	1 lab	664361868f
12:122255537 SETD1B C>CGGAGGA	12	122255537	122255558	C	CGGAGGA	SETD1B	c.3255_3260dup	NM_001353345.2	NP_001340274.1:p.(Glu1086_Glu1087dup)	NC_000012.11:g.122255553_122255558dup	VUS	1 lab	664461f86f
10:75577236 CAMK2G C>T	10	75577236	75577236	C	T	CAMK2G	c.1343+1G>A	NM_172171.3	NP_751911.1:p.?	NC_000010.10:g.75577236C>T	VUS	1 lab	6648c20e6d
1:209807972 LAMB3 G>A	1	209807972	209807972	G	A	LAMB3	c.384C>T	NM_001017402.2	NP_001017402.1:p.(Pro128=)	NC_000001.10:g.209807972G>A	(Likely) benign	1 lab	664ef5f406
2:113591059 IL1B C>T	2	113591059	113591059	C	T	IL1B	c.193G>A	NM_000576.3	NP_000567.1:p.(Ala65Thr)	NC_000002.11:g.113591059C>T	(Likely) benign	1 lab	66534fb951
12:21981878 ABCC9 T>C	12	21981878	21981878	T	C	ABCC9	c.3669+14A>G	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21981878T>C	(Likely) benign	1 lab	66578e3fff
1:237730049 RYR2 C>T	1	237730049	237730049	C	T	RYR2	c.3397C>T	NM_001035.3	NP_001026.2:p.(Arg1133Cys)	NC_000001.10:g.237730049C>T	VUS	1 lab	6657b73259
2:179430790 TTN A>AAATTCTGTGGTGGTCCTGGAGTGTC	2	179430790	179430817	A	AAATTCTGTGGTGGTCCTGGAGTGTC	TTN	c.80044_80068dup	NM_001267550.2	NP_001254479.2:p.(Leu26690Ter)	NC_000002.11:g.179430793_179430817dup	(Likely) pathogenic	1 lab	66587ed734
6:112430707 LAMA4 G>T	6	112430707	112430707	G	T	LAMA4	c.5405C>A	NM_001105206.3	NP_001098676.2:p.(Pro1802Gln)	NC_000006.11:g.112430707G>T	VUS	1 lab	665a74514c
6:101312097 ASCC3 C>T	6	101312097	101312097	C	T	ASCC3	c.91-7G>A	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.101312097C>T	(Likely) benign	1 lab	665e66a942
6:118790286 CEP85L G>A	6	118790286	118790286	G	A	CEP85L	c.2203C>T	NM_001042475.3	NP_001035940.1:p.(Gln735Ter)	NC_000006.11:g.118790286G>A	VUS	1 lab	6666918add
10:27475444 MASTL T>C	10	27475444	27475444	T	C	MASTL	c.2619T>C	NM_001172303.3	NP_001165774.1:p.(Thr873=)	NC_000010.10:g.27475444T>C	(Likely) benign	1 lab	6667957736
12:21968702 ABCC9 G>T	12	21968702	21968702	G	T	ABCC9	c.4018C>A	NM_005691.4	NP_005682.2:p.(Gln1340Lys)	NC_000012.11:g.21968702G>T	VUS	1 lab	666fa64ac5
20:56136536 PCK1 A>G	20	56136536	56136536	A	G	PCK1	c.69A>G	NM_002591.4	NP_002582.3:p.(Leu23=)	NC_000020.10:g.56136536A>G	(Likely) benign	1 lab	6672be2826
10:121436624 BAG3 C>T	10	121436624	121436624	C	T	BAG3	c.1558C>T	NM_004281.4	NP_004272.2:p.(Pro520Ser)	NC_000010.10:g.121436624C>T	VUS	1 lab	6677a9631f
14:94849050 SERPINA1 T>C	14	94849050	94849050	T	C	SERPINA1	c.525A>G	NM_000295.5	NP_000286.3:p.(Glu175=)	NC_000014.8:g.94849050T>C	(Likely) benign	1 lab	6679cc26c3
2:84658721 SUCLG1 C>T	2	84658721	84658721	C	T	SUCLG1	c.736G>A	NM_003849.4	NP_003840.2:p.(Asp246Asn)	NC_000002.11:g.84658721C>T	VUS	1 lab	667ca5aa12
22:32297743 DEPDC5 C>T	22	32297743	32297743	C	T	DEPDC5	c.4391C>T	NM_001242896.3	NP_001229825.1:p.(Thr1464Met)	NC_000022.10:g.32297743C>T	VUS	1 lab	66814ae617
15:67546909 AAGAB G>A	15	67546909	67546909	G	A	AAGAB	c.61C>T	NM_024666.5	NP_078942.3:p.(Gln21Ter)	NC_000015.9:g.67546909G>A	(Likely) pathogenic	1 lab	6685ee7cff
16:14645900 PARN G>C	16	14645900	14645900	G	C	PARN	c.1458C>G	NM_002582.4	NP_002573.1:p.(Ser486Arg)	NC_000016.9:g.14645900G>C	VUS	1 lab	668636b7b0
17:7796816 CHD3 C>T	17	7796816	7796816	C	T	CHD3	c.899C>T	NM_001005271.3	NP_001005271.2:p.(Ala300Val)	NC_000017.10:g.7796816C>T	VUS	1 lab	668a9ebdd3
21:39086820 KCNJ6 G>A	21	39086820	39086820	G	A	KCNJ6	c.640C>T	NM_002240.5	NP_002231.1:p.(Arg214Trp)	NC_000021.8:g.39086820G>A	VUS	1 lab	668bfe4639
11:6630187 ILK G>A	11	6630187	6630187	G	A	ILK	c.521G>A	NM_001014795.3	NP_001014795.1:p.(Arg174His)	NC_000011.9:g.6630187G>A	VUS	1 lab	668bffb47f
6:31635655 CSNK2B A>G	6	31635655	31635655	A	G	CSNK2B	c.83A>G	NM_001320.7	NP_001311.3:p.(Asp28Gly)	NC_000006.11:g.31635655A>G	VUS	1 lab	6694613e5d
2:149240660 MBD5 T>G	2	149240660	149240660	T	G	MBD5	c.2519-19T>G	NM_018328.5	NP_060798.2:p.?	NC_000002.11:g.149240660T>G	(Likely) benign	1 lab	66990079ff
12:56493822 ERBB3 A>C	12	56493822	56493822	A	C	ERBB3	c.3129+9A>C	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56493822A>C	(Likely) benign	1 lab	669b8d12b9
1:154842199 KCNN3 G>GGCTGCTGCTGCTGCTGCTGCTGCT	1	154842199	154842242	G	GGCTGCTGCTGCTGCTGCTGCTGCT	KCNN3	c.218_241dup	NM_002249.6	NP_002240.3:p.(Gln73_Gln80dup)	NC_000001.10:g.154842219_154842242dup	(Likely) benign	1 lab	669d9c89e2
16:3713478 DNASE1 G>T	16	3713478	3713478	G	T	DNASE1	c.*853G>T	NM_001387140.1	NP_001374069.1:p.?	NC_000016.9:g.3713478G>T	VUS	1 lab	669f1795f4
19:10291475 DNMT1 T>C	19	10291475	10291475	T	C	DNMT1	c.204A>G	NM_001130823.3	NP_001124295.1:p.(Leu68=)	NC_000019.9:g.10291475T>C	(Likely) benign	1 lab	66a0459ed3
19:40430479 FCGBP G>T	19	40430479	40430479	G	T	FCGBP	c.1464C>A	NM_003890.2	NP_003881.2:p.(Tyr488Ter)	NC_000019.9:g.40430479G>T	VUS	1 lab	66a3696e79
15:75653031 MAN2C1 T>C	15	75653031	75653031	T	C	MAN2C1	c.1461-2A>G	NM_001256494.2	NP_001243423.1:p.?	NC_000015.9:g.75653031T>C	(Likely) pathogenic	1 lab	66a4295d30
16:3297164 MEFV A>C	16	3297164	3297164	A	C	MEFV	c.1439T>G	NM_000243.3	NP_000234.1:p.(Phe480Cys)	NC_000016.9:g.3297164A>C	VUS	1 lab	66a46a25b4
1:228399482 OBSCN C>G	1	228399482	228399482	C	G	OBSCN	c.-3C>G	NM_052843.4	NP_443075.3:p.?	NC_000001.10:g.228399482C>G	(Likely) benign	1 lab	66a50c253d
6:152832163 SYNE1 T>C	6	152832163	152832163	T	C	SYNE1	c.406A>G	NM_033071.4	NP_149062.2:p.(Ile136Val)	NC_000006.11:g.152832163T>C	VUS	1 lab	66a7357015
17:41215364 BRCA1 T>G	17	41215364	41215364	T	G	BRCA1	c.5179A>C	NM_007294.4	NP_009225.1:p.(Lys1727Gln)	NC_000017.10:g.41215364T>G	VUS	1 lab	66ac44eefe
7:87035747 ABCB4 C>T	7	87035747	87035747	C	T	ABCB4	c.3343G>A	NM_000443.4	NP_000434.1:p.(Val1115Met)	NC_000007.13:g.87035747C>T	VUS	1 lab	66ad435b76
10:102750193 TWNK G>A	10	102750193	102750193	G	A	TWNK	c.1485G>A	NM_001163812.2	NP_001157284.1:p.(Arg495=)	NC_000010.10:g.102750193G>A	(Likely) benign	1 lab	66b37f022e
11:67799622 NDUFS8 C>T	11	67799622	67799622	C	T	NDUFS8	c.4C>T	NM_002496.4	NP_002487.1:p.(Arg2Cys)	NC_000011.9:g.67799622C>T	VUS	1 lab	66bc3ccce3
19:4546468 SEMA6B T>G	19	4546468	4546468	T	G	SEMA6B	c.1615A>C	NM_032108.4	NP_115484.2:p.(Ser539Arg)	NC_000019.9:g.4546468T>G	VUS	1 lab	66c3bab468
9:136401668 ADAMTSL2 T>G	9	136401668	136401668	T	G	ADAMTSL2	c.-150-17T>G	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136401668T>G	(Likely) benign	1 lab	66c514cae7
1:27088777 ARID1A TA>T	1	27088777	27088778	TA	T	ARID1A	c.2387del	NM_006015.6	NP_006006.3:p.(Tyr796LeufsTer37)	NC_000001.10:g.27088778del	(Likely) pathogenic	1 lab	66c543aa92
18:48584837 SMAD4 G>A	18	48584837	48584837	G	A	SMAD4	c.904+11G>A	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584837G>A	(Likely) benign	1 lab	66c7abc7cf
11:678691 DEAF1 T>C	11	678691	678691	T	C	DEAF1	c.1255+3A>G	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.678691T>C	VUS	1 lab	66c800e432
13:103282493 TPP2 C>T	13	103282493	103282493	C	T	TPP2	c.1192C>T	NM_001330588.2	NP_001317517.1:p.(Leu398=)	NC_000013.10:g.103282493C>T	(Likely) benign	1 lab	66c8151cb3
6:7584300 DSP A>G	6	7584300	7584300	A	G	DSP	c.6805A>G	NM_004415.4	NP_004406.2:p.(Lys2269Glu)	NC_000006.11:g.7584300A>G	VUS	1 lab	66cab2acc3
18:55322647 ATP8B1 C>T	18	55322647	55322647	C	T	ATP8B1	c.2710G>A	NM_005603.6	NP_005594.2:p.(Ala904Thr)	NC_000018.9:g.55322647C>T	(Likely) pathogenic	1 lab	66ce58066e
7:103206808 RELN T>C	7	103206808	103206808	T	C	RELN	c.4799A>G	NM_005045.4	NP_005036.2:p.(Asp1600Gly)	NC_000007.13:g.103206808T>C	VUS	1 lab	66ce73bd33
11:118656947 DDX6 C>G	11	118656947	118656947	C	G	DDX6	c.14G>C	NM_004397.6	NP_004388.2:p.(Arg5Thr)	NC_000011.9:g.118656947C>G	VUS	1 lab	66cfad5ea0
14:31578733 HECTD1 C>T	14	31578733	31578733	C	T	HECTD1	c.6350G>A	NM_015382.4	NP_056197.3:p.(Arg2117Gln)	NC_000014.8:g.31578733C>T	VUS	1 lab	66d0a21311
11:76826503 CAPN5 C>A	11	76826503	76826503	C	A	CAPN5	c.762C>A	NM_004055.5	NP_004046.2:p.(Tyr254Ter)	NC_000011.9:g.76826503C>A	VUS	1 lab	66d1da0a56
7:4820891 AP5Z1 G>C	7	4820891	4820891	G	C	AP5Z1	c.127G>C	NM_014855.3	NP_055670.1:p.(Asp43His)	NC_000007.13:g.4820891G>C	VUS	1 lab	66d95a3b40
8:11412348 BLK C>G	8	11412348	11412348	C	G	BLK	c.569C>G	NM_001715.3	NP_001706.2:p.(Ser190Cys)	NC_000008.10:g.11412348C>G	VUS	1 lab	66dd6e6ec6
12:110236496 TRPV4 C>T	12	110236496	110236496	C	T	TRPV4	c.1075G>A	NM_021625.5	NP_067638.3:p.(Asp359Asn)	NC_000012.11:g.110236496C>T	VUS	1 lab	66e0a5eed9
6:13160432 PHACTR1 G>A	6	13160432	13160432	G	A	PHACTR1	c.416-4G>A	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13160432G>A	(Likely) benign	1 lab	66e16a723c
1:237619892 RYR2 C>A	1	237619892	237619892	C	A	RYR2	c.1477-8C>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237619892C>A	VUS	1 lab	66e501fb69
6:3226412 TUBB2B T>G	6	3226412	3226412	T	G	TUBB2B	c.258A>C	NM_178012.5	NP_821080.1:p.(Arg86Ser)	NC_000006.11:g.3226412T>G	VUS	1 lab	66e6075f99
19:36221273 KMT2B C>T	19	36221273	36221273	C	T	KMT2B	c.5107C>T	NM_014727.3	NP_055542.1:p.(Leu1703Phe)	NC_000019.9:g.36221273C>T	VUS	1 lab	66e9da6f7c
17:67303085 ABCA5 T>C	17	67303085	67303085	T	C	ABCA5	c.569A>G	NM_018672.5	NP_061142.2:p.(Asn190Ser)	NC_000017.10:g.67303085T>C	(Likely) benign	1 lab	66ec4ad7c2
15:52689631 MYO5A T>G	15	52689631	52689631	T	G	MYO5A	c.1086=	NM_000259.3	NP_000250.3:p.(Asp362=)	NC_000015.9:g.52689631T>G	(Likely) benign	1 lab	66f1f80393
3:123444857 MYLK G>A	3	123444857	123444857	G	A	MYLK	c.1585C>T	NM_053025.4	NP_444253.3:p.(Gln529Ter)	NC_000003.11:g.123444857G>A	VUS	1 lab	66f3bd61c1
2:179424943 TTN G>T	2	179424943	179424943	G	T	TTN	c.85916C>A	NM_001267550.2	NP_001254479.2:p.(Thr28639Asn)	NC_000002.11:g.179424943G>T	VUS	1 lab	66f98d9ed5
1:154561131 ADAR T>G	1	154561131	154561131	T	G	ADAR	c.2781A>C	NM_001111.5	NP_001102.3:p.(Leu927Phe)	NC_000001.10:g.154561131T>G	VUS	1 lab	66fa5ee26c
22:38512402 PLA2G6 G>A	22	38512402	38512402	G	A	PLA2G6	c.1743-184C>T	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38512402G>A	(Likely) benign	1 lab	6701aecd68
4:153332648 FBXW7 T>G	4	153332648	153332648	T	G	FBXW7	c.308A>C	NM_033632.3	NP_361014.1:p.(Glu103Ala)	NC_000004.11:g.153332648T>G	VUS	1 lab	67097f55d9
20:56137807 PCK1 A>G	20	56137807	56137807	A	G	PCK1	c.462A>G	NM_002591.4	NP_002582.3:p.(Ser154=)	NC_000020.10:g.56137807A>G	(Likely) benign	1 lab	670af44441
9:123805447 C5 G>T	9	123805447	123805447	G	T	C5	c.259-3C>A	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123805447G>T	(Likely) benign	1 lab	6710d913c2
10:50678356 ERCC6 A>C	10	50678356	50678356	A	C	ERCC6	c.3650T>G	NM_000124.4	NP_000115.1:p.(Phe1217Cys)	NC_000010.10:g.50678356A>C	(Likely) benign	1 lab	6714508811
16:4933917 PPL C>T	16	4933917	4933917	C	T	PPL	c.4739G>A	NM_002705.5	NP_002696.4:p.(Arg1580Gln)	NC_000016.9:g.4933917C>T	VUS	1 lab	67158d20b8
17:882724 NXN C>T	17	882724	882724	C	T	NXN	c.195G>A	NM_022463.5	NP_071908.2:p.(Ala65=)	NC_000017.10:g.882724C>T	(Likely) benign	1 lab	6717587c46
16:23649452 PALB2 T>A	16	23649452	23649452	T	A	PALB2	c.49-2A>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649452T>A	VUS	1 lab	6719987c38
14:103371566 TRAF3 G>C	14	103371566	103371566	G	C	TRAF3	c.1152G>C	NM_145725.3	NP_663777.1:p.(Gln384His)	NC_000014.8:g.103371566G>C	VUS	1 lab	6723df1563
20:62044872 KCNQ2 A>G	20	62044872	62044872	A	G	KCNQ2	c.1694T>C	NM_172107.4	NP_742105.1:p.(Met565Thr)	NC_000020.10:g.62044872A>G	(Likely) pathogenic	1 lab	672b8e6866
12:7045885 ATN1 ACAGCAACAG>A	12	7045885	7045899	ACAGCAACAG	A	ATN1	c.1461_1469del	NM_001007026.2	NP_001007027.1:p.(Gln500_Gln502del)	NC_000012.11:g.7045891_7045899del	(Likely) benign	1 lab	672cfe2e2a
2:26688863 OTOF C>T	2	26688863	26688863	C	T	OTOF	c.4582G>A	NM_194248.3	NP_919224.1:p.(Asp1528Asn)	NC_000002.11:g.26688863C>T	(Likely) benign	1 lab	672f61166a
2:179498567 TTN G>C	2	179498567	179498567	G	C	TTN	c.42659C>G	NM_001267550.2	NP_001254479.2:p.(Ser14220Cys)	NC_000002.11:g.179498567G>C	(Likely) pathogenic	1 lab	67334e75a7
2:84949881 DNAH6 T>C	2	84949881	84949881	T	C	DNAH6	c.9925T>C	NM_001370.2	NP_001361.1:p.(Ser3309Pro)	NC_000002.11:g.84949881T>C	VUS	1 lab	6733aadcae
12:52082539 SCN8A C>G	12	52082539	52082539	C	G	SCN8A	c.615-3C>G	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52082539C>G	VUS	1 lab	6740d432cb
10:105794415 COL17A1 C>T	10	105794415	105794415	C	T	COL17A1	c.3730G>A	NM_000494.4	NP_000485.3:p.(Asp1244Asn)	NC_000010.10:g.105794415C>T	VUS	1 lab	6744e80c63
6:32796685 TAP2 A>G	6	32796685	32796685	A	G	TAP2	c.2059T>C	NM_001290043.2	NP_001276972.1:p.(Ter687GlnextTer17)	NC_000006.11:g.32796685A>G	(Likely) benign	1 lab	6748947137
16:31195598 FUS G>A	16	31195598	31195598	G	A	FUS	c.404G>A	NM_004960.4	NP_004951.1:p.(Ser135Asn)	NC_000016.9:g.31195598G>A	(Likely) benign	1 lab	674c87aef2
2:160285739 BAZ2B G>A	2	160285739	160285739	G	A	BAZ2B	c.2221C>T	NM_001289975.1	NP_001276904.1:p.(Arg741Cys)	NC_000002.11:g.160285739G>A	VUS	1 lab	674d726153
16:15812225 MYH11 C>T	16	15812225	15812225	C	T	MYH11	c.5242G>A	NM_002474.3	NP_002465.1:p.(Glu1748Lys)	NC_000016.9:g.15812225C>T	VUS	1 lab	674ebd095c
17:39928072 JUP T>C	17	39928072	39928072	T	C	JUP	c.35A>G	NM_002230.4	NP_002221.1:p.(Lys12Arg)	NC_000017.10:g.39928072T>C	VUS	1 lab	674fb5fa35
4:79385304 FRAS1 G>A	4	79385304	79385304	G	A	FRAS1	c.6888+5G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79385304G>A	(Likely) pathogenic	1 lab	675077d8a1
5:94863713 SKIC3 C>T	5	94863713	94863713	C	T	SKIC3	c.1134+4G>A	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94863713C>T	(Likely) benign	1 lab	67531f851a
1:240256668 FMN2 A>C	1	240256668	240256668	A	C	FMN2	c.1259A>C	NM_020066.5	NP_064450.3:p.(Lys420Thr)	NC_000001.10:g.240256668A>C	(Likely) benign	1 lab	675d33ba1f
2:26695519 OTOF T>A	2	26695519	26695519	T	A	OTOF	c.3734-2A>T	NM_194248.3	NP_919224.1:p.?	NC_000002.11:g.26695519T>A	(Likely) pathogenic	1 lab	6763d4a4e6
9:93639979 SYK C>T	9	93639979	93639979	C	T	SYK	c.1308C>T	NM_003177.7	NP_003168.2:p.(Ile436=)	NC_000009.11:g.93639979C>T	(Likely) benign	1 lab	676adc18da
1:76344719 MSH4 G>A	1	76344719	76344719	G	A	MSH4	c.1583G>A	NM_002440.4	NP_002431.2:p.(Arg528Lys)	NC_000001.10:g.76344719G>A	VUS	1 lab	677296bf18
3:38791573 SCN10A C>T	3	38791573	38791573	C	T	SCN10A	c.1858G>A	NM_006514.4	NP_006505.4:p.(Val620Ile)	NC_000003.11:g.38791573C>T	(Likely) benign	1 lab	6775a23fdf
2:179407763 TTN C>CT	2	179407763	179407778	C	CT	TTN	c.96904+32dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407778dup	(Likely) benign	1 lab	6778263b51
18:21407417 LAMA3 C>T	18	21407417	21407417	C	T	LAMA3	c.2809C>T	NM_198129.4	NP_937762.2:p.(Leu937Phe)	NC_000018.9:g.21407417C>T	(Likely) benign	1 lab	6778e33748
1:201332472 TNNT2 C>G	1	201332472	201332472	C	G	TNNT2	c.522G>C	NM_001276347.2	NP_001263276.1:p.(Lys174Asn)	NC_000001.10:g.201332472C>G	VUS	1 lab	6779cf0c0c
5:161322828 GABRA1 C>T	5	161322828	161322828	C	T	GABRA1	c.1013C>T	NM_000806.5	NP_000797.2:p.(Thr338Ile)	NC_000005.9:g.161322828C>T	VUS	1 lab	677b6883c7
17:7416450 POLR2A T>G	17	7416450	7416450	T	G	POLR2A	c.4867T>G	NM_000937.5	NP_000928.1:p.(Ser1623Ala)	NC_000017.10:g.7416450T>G	VUS	1 lab	677cf49396
21:47836551 PCNT C>G	21	47836551	47836551	C	G	PCNT	c.6719C>G	NM_006031.6	NP_006022.3:p.(Pro2240Arg)	NC_000021.8:g.47836551C>G	VUS	1 lab	677f29e0b8
18:10471773 APCDD1 C>G	18	10471773	10471773	C	G	APCDD1	c.489C>G	NM_153000.5	NP_694545.1:p.(Leu163=)	NC_000018.9:g.10471773C>G	(Likely) benign	1 lab	677fb6856d
2:198570899 MARS2 G>C	2	198570899	198570899	G	C	MARS2	c.770G>C	NM_138395.4	NP_612404.1:p.(Arg257Pro)	NC_000002.11:g.198570899G>C	VUS	1 lab	6783033f07
13:52516531 ATP7B C>T	13	52516531	52516531	C	T	ATP7B	c.3403G>A	NM_000053.4	NP_000044.2:p.(Ala1135Thr)	NC_000013.10:g.52516531C>T	(Likely) benign	1 lab	6786c735bd
14:103470298 CDC42BPB C>T	14	103470298	103470298	C	T	CDC42BPB	c.414G>A	NM_006035.4	NP_006026.3:p.(Ala138=)	NC_000014.8:g.103470298C>T	(Likely) benign	1 lab	678bef389a
17:39728050 KRT9 G>A	17	39728050	39728050	G	A	KRT9	c.195C>T	NM_000226.4	NP_000217.2:p.(Gly65=)	NC_000017.10:g.39728050G>A	(Likely) benign	1 lab	678e290234
17:48265939 COL1A1 G>GGCACCAGGA	17	48265939	48265965	G	GGCACCAGGA	COL1A1	c.3150_3158dup	NM_000088.4	NP_000079.2:p.(Ala1053_Gly1055dup)	NC_000017.10:g.48265957_48265965dup	(Likely) pathogenic	1 lab	67901ba2d0
18:11752462 GNAL G>T	18	11752462	11752462	G	T	GNAL	c.30G>T	NM_001142339.3	NP_001135811.1:p.(Thr10=)	NC_000018.9:g.11752462G>T	(Likely) benign	1 lab	67914f8f51
1:152327469 FLG2 C>A	1	152327469	152327469	C	A	FLG2	c.2793G>T	NM_001014342.3	NP_001014364.1:p.(Gln931His)	NC_000001.10:g.152327469C>A	VUS	1 lab	6791b978c6
4:152629140 GATB C>T	4	152629140	152629140	C	T	GATB	c.877G>A	NM_004564.3	NP_004555.1:p.(Asp293Asn)	NC_000004.11:g.152629140C>T	(Likely) pathogenic	1 lab	679285f3f3
1:183184602 LAMC2 C>T	1	183184602	183184602	C	T	LAMC2	c.283C>T	NM_005562.3	NP_005553.2:p.(Arg95Ter)	NC_000001.10:g.183184602C>T	(Likely) pathogenic	1 lab	679636f349
6:7583289 DSP C>T	6	7583289	7583289	C	T	DSP	c.5794C>T	NM_004415.4	NP_004406.2:p.(Arg1932Cys)	NC_000006.11:g.7583289C>T	VUS	1 lab	6796df3383
11:119545908 NECTIN1 T>G	11	119545908	119545908	T	G	NECTIN1	c.964A>C	NM_002855.5	NP_002846.3:p.(Ile322Leu)	NC_000011.9:g.119545908T>G	VUS	1 lab	679e9975ba
8:145700385 FOXH1 C>T	8	145700385	145700385	C	T	FOXH1	c.334G>A	NM_003923.3	NP_003914.1:p.(Val112Met)	NC_000008.10:g.145700385C>T	VUS	1 lab	679fa4e3d5
15:50903429 TRPM7 T>G	15	50903429	50903429	T	G	TRPM7	c.2141A>C	NM_017672.6	NP_060142.3:p.(Lys714Thr)	NC_000015.9:g.50903429T>G	VUS	1 lab	67a2426a3f
21:44836773 SIK1 A>G	21	44836773	44836773	A	G	SIK1	c.2201T>C	NM_173354.5	NP_775490.2:p.(Ile734Thr)	NC_000021.8:g.44836773A>G	VUS	1 lab	67a4fddfa0
12:111772259 CUX2 C>T	12	111772259	111772259	C	T	CUX2	c.2941C>T	NM_015267.4	NP_056082.2:p.(Pro981Ser)	NC_000012.11:g.111772259C>T	(Likely) benign	1 lab	67a693e27e
1:120278013 PHGDH C>T	1	120278013	120278013	C	T	PHGDH	c.739C>T	NM_006623.4	NP_006614.2:p.(Arg247Trp)	NC_000001.10:g.120278013C>T	VUS	1 lab	67a86bce28
11:105769128 GRIA4 A>G	11	105769128	105769128	A	G	GRIA4	c.860A>G	NM_000829.4	NP_000820.4:p.(Tyr287Cys)	NC_000011.9:g.105769128A>G	VUS	1 lab	67aa78a9a6
18:48604673 SMAD4 T>C	18	48604673	48604673	T	C	SMAD4	c.1495T>C	NM_005359.6	NP_005350.1:p.(Cys499Arg)	NC_000018.9:g.48604673T>C	(Likely) pathogenic	1 lab	67aa94b3fa
1:97839182 DPYD G>A	1	97839182	97839182	G	A	DPYD	c.1993C>T	NM_000110.4	NP_000101.2:p.(Leu665=)	NC_000001.10:g.97839182G>A	(Likely) benign	1 lab	67b4d37a8f
1:43395340 SLC2A1 C>T	1	43395340	43395340	C	T	SLC2A1	c.791G>A	NM_006516.4	NP_006507.2:p.(Arg264His)	NC_000001.10:g.43395340C>T	VUS	1 lab	67b674fecb
8:121259902 COL14A1 C>T	8	121259902	121259902	C	T	COL14A1	c.2530C>T	NM_021110.4	NP_066933.1:p.(Arg844Trp)	NC_000008.10:g.121259902C>T	VUS	1 lab	67b7cab018
X:153284907 IRAK1 G>A	X	153284907	153284907	G	A	IRAK1	c.279C>T	NM_001569.4	NP_001560.2:p.(Leu93=)	NC_000023.10:g.153284907G>A	(Likely) benign	1 lab	67ba31d1e8
2:85781318 GGCX T>G	2	85781318	85781318	T	G	GGCX	c.837=	NM_000821.7	NP_000812.2:p.(Gly279=)	NC_000002.11:g.85781318T>G	(Likely) benign	1 lab	67bd41dcf9
8:17920703 ASAH1 A>G	8	17920703	17920703	A	G	ASAH1	c.494T>C	NM_177924.5	NP_808592.2:p.(Val165Ala)	NC_000008.10:g.17920703A>G	VUS	1 lab	67bfe7c023
1:1458885 ATAD3A C>T	1	1458885	1458885	C	T	ATAD3A	c.907-6C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1458885C>T	(Likely) benign	1 lab	67c430b4ad
10:17024503 CUBN G>A	10	17024503	17024503	G	A	CUBN	c.4675C>T	NM_001081.4	NP_001072.2:p.(Pro1559Ser)	NC_000010.10:g.17024503G>A	(Likely) benign	1 lab	67c48cae83
15:43531464 TGM5 C>T	15	43531464	43531464	C	T	TGM5	c.1002G>A	NM_201631.4	NP_963925.2:p.(Trp334Ter)	NC_000015.9:g.43531464C>T	(Likely) pathogenic	1 lab	67c552cf8d
15:63351862 TPM1 G>A	15	63351862	63351862	G	A	TPM1	c.475G>A	NM_001018004.2	NP_001018004.1:p.(Asp159Asn)	NC_000015.9:g.63351862G>A	(Likely) pathogenic	1 lab	67caa40fc8
3:193384149 OPA1 C>CT	3	193384149	193384152	C	CT	OPA1	c.2846dup	NM_130837.3	NP_570850.2:p.(Leu949PhefsTer9)	NC_000003.11:g.193384152dup	(Likely) pathogenic	1 lab	67d1982923
8:61736396 CHD7 T>C	8	61736396	61736396	T	C	CHD7	c.3202-3T>C	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61736396T>C	(Likely) benign	1 lab	67dbb6b3b3
14:103440358 CDC42BPB G>A	14	103440358	103440358	G	A	CDC42BPB	c.1636C>T	NM_006035.4	NP_006026.3:p.(His546Tyr)	NC_000014.8:g.103440358G>A	VUS	1 lab	67de52ee96
20:3193872 ITPA C>T	20	3193872	3193872	C	T	ITPA	c.124C>T	NM_001324240.2	NP_001311169.1:p.(Leu42=)	NC_000020.10:g.3193872C>T	(Likely) benign	1 lab	67deba2964
2:21259971 APOB C>A	2	21259971	21259971	C	A	APOB	c.693+1G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21259971C>A	(Likely) pathogenic	1 lab	67e7f30408
12:40697917 LRRK2 C>G	12	40697917	40697917	C	G	LRRK2	c.3758C>G	NM_198578.4	NP_940980.4:p.(Ser1253Cys)	NC_000012.11:g.40697917C>G	VUS	1 lab	67ec18b863
6:33272897 TAPBP G>A	6	33272897	33272897	G	A	TAPBP	c.737C>T	NM_003190.5	NP_003181.3:p.(Pro246Leu)	NC_000006.11:g.33272897G>A	VUS	1 lab	67f27fa7d3
X:153762692 G6PD C>T	X	153762692	153762692	C	T	G6PD	c.595G>A	NM_000402.4	NP_000393.4:p.(Val199Met)	NC_000023.10:g.153762692C>T	VUS	1 lab	67f7782dc1
14:74995782 LTBP2 C>T	14	74995782	74995782	C	T	LTBP2	c.2031G>A	NM_000428.3	NP_000419.1:p.(Ser677=)	NC_000014.8:g.74995782C>T	(Likely) benign	1 lab	67fb884de2
1:210971047 KCNH1 C>T	1	210971047	210971047	C	T	KCNH1	c.1718G>A	NM_172362.3	NP_758872.1:p.(Arg573His)	NC_000001.10:g.210971047C>T	VUS	1 lab	67fbe32582
15:77908103 LINGO1 G>A	15	77908103	77908103	G	A	LINGO1	c.128C>T	NM_001301191.2	NP_001288120.1:p.(Ser43Phe)	NC_000015.9:g.77908103G>A	VUS	1 lab	6802c05a8e
1:207933018 CD46 G>C	1	207933018	207933018	G	C	CD46	c.424G>C	NM_002389.4	NP_002380.3:p.(Glu142Gln)	NC_000001.10:g.207933018G>C	VUS	1 lab	680699ada2
X:47045489 RBM10 C>T	X	47045489	47045489	C	T	RBM10	c.2456C>T	NM_005676.5	NP_005667.2:p.(Ala819Val)	NC_000023.10:g.47045489C>T	VUS	1 lab	680822d10c
12:122079355 ORAI1 G>A	12	122079355	122079355	G	A	ORAI1	c.712G>A	NM_032790.3	NP_116179.2:p.(Ala238Thr)	NC_000012.11:g.122079355G>A	VUS	1 lab	680b8ce17a
1:39889792 MACF1 T>G	1	39889792	39889792	T	G	MACF1	c.10056T>G	NM_012090.5	NP_036222.3:p.(Asp3352Glu)	NC_000001.10:g.39889792T>G	(Likely) benign	1 lab	6822481e18
17:78155270 CARD14 C>CA	17	78155270	78155271	C	CA	CARD14	c.34dup	NM_024110.4	NP_077015.2:p.(Thr12AsnfsTer87)	NC_000017.10:g.78155271dup	VUS	1 lab	6825b12215
15:93486190 CHD2 C>G	15	93486190	93486190	C	G	CHD2	c.944C>G	NM_001271.4	NP_001262.3:p.(Ser315Cys)	NC_000015.9:g.93486190C>G	VUS	1 lab	6826b0f463
3:38051941 PLCD1 T>C	3	38051941	38051941	T	C	PLCD1	c.966A>G	NM_001130964.2	NP_001124436.1:p.(Pro322=)	NC_000003.11:g.38051941T>C	(Likely) benign	1 lab	682728e6fd
19:55665462 TNNI3 C>G	19	55665462	55665462	C	G	TNNI3	c.485G>C	NM_000363.5	NP_000354.4:p.(Arg162Pro)	NC_000019.9:g.55665462C>G	(Likely) pathogenic	1 lab	6828670ddb
3:129290550 PLXND1 G>A	3	129290550	129290550	G	A	PLXND1	c.3215C>T	NM_015103.3	NP_055918.3:p.(Thr1072Met)	NC_000003.11:g.129290550G>A	VUS	1 lab	6829b60661
X:128638728 SMARCA1 C>T	X	128638728	128638728	C	T	SMARCA1	c.1150G>A	NM_003069.5	NP_003060.2:p.(Val384Met)	NC_000023.10:g.128638728C>T	VUS	1 lab	6833cc69b4
1:227170436 COQ8A C>T	1	227170436	227170436	C	T	COQ8A	c.911C>T	NM_020247.5	NP_064632.2:p.(Ala304Val)	NC_000001.10:g.227170436C>T	VUS	1 lab	6835ae1b05
17:7796891 CHD3 G>A	17	7796891	7796891	G	A	CHD3	c.970+4G>A	NM_001005271.3	NP_001005271.2:p.?	NC_000017.10:g.7796891G>A	(Likely) benign	1 lab	683a26ab1d
12:32996181 PKP2 CTGGGA>C	12	32996181	32996187	CTGGGA	C	PKP2	c.1440_1444del	NM_004572.4	NP_004563.2:p.(Asn480LysfsTer20)	NC_000012.11:g.32996183_32996187del	VUS	1 lab	683be28f83
7:87060378 ABCB4 G>C	7	87060378	87060378	G	C	ABCB4	c.1893+342C>G	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87060378G>C	(Likely) benign	1 lab	6844d51c3c
16:2818131 SRRM2 CTCG>C	16	2818131	2818145	CTCG	C	SRRM2	c.7614_7616del	NM_016333.4	NP_057417.3:p.(Ser2556del)	NC_000016.9:g.2818143_2818145del	(Likely) benign	1 lab	684bee3f93
9:123783803 C5 G>A	9	123783803	123783803	G	A	C5	c.1286C>T	NM_001735.3	NP_001726.2:p.(Thr429Met)	NC_000009.11:g.123783803G>A	VUS	1 lab	684c9546f5
16:1842310 IGFALS C>T	16	1842310	1842310	C	T	IGFALS	c.109G>A	NM_004970.3	NP_004961.1:p.(Glu37Lys)	NC_000016.9:g.1842310C>T	VUS	1 lab	684d4c757d
14:105834864 PACS2 G>A	14	105834864	105834864	G	A	PACS2	c.729G>A	NM_001100913.3	NP_001094383.2:p.(Thr243=)	NC_000014.8:g.105834864G>A	(Likely) benign	1 lab	684d795818
21:47821552 PCNT G>A	21	47821552	47821552	G	A	PCNT	c.4879G>A	NM_006031.6	NP_006022.3:p.(Glu1627Lys)	NC_000021.8:g.47821552G>A	(Likely) benign	1 lab	68511ced81
18:10797466 PIEZO2 C>T	18	10797466	10797466	C	T	PIEZO2	c.1433G>A	NM_022068.4	NP_071351.2:p.(Arg478His)	NC_000018.9:g.10797466C>T	VUS	1 lab	68531db49e
5:68805264 OCLN G>GTGGCTA	5	68805264	68805285	G	GTGGCTA	OCLN	c.363_368dup	NM_002538.4	NP_002529.1:p.(Tyr128_Gly129dup)	NC_000005.9:g.68805280_68805285dup	VUS	1 lab	68550e3137
13:103484060 BIVM-ERCC5 G>A	13	103484060	103484060	G	A	BIVM-ERCC5	c.1034+13G>A	NM_001204425.2	NP_001191354.2:p.?	NC_000013.10:g.103484060G>A	(Likely) benign	1 lab	685c530fb9
16:78466400 WWOX C>T	16	78466400	78466400	C	T	WWOX	c.807C>T	NM_016373.4	NP_057457.1:p.(Asn269=)	NC_000016.9:g.78466400C>T	(Likely) benign	1 lab	685fff0b3d
10:76780463 KAT6B A>G	10	76780463	76780463	A	G	KAT6B	c.2753A>G	NM_012330.4	NP_036462.2:p.(His918Arg)	NC_000010.10:g.76780463A>G	VUS	1 lab	68617d8cb6
10:18629859 CACNB2 C>T	10	18629859	18629859	C	T	CACNB2	c.4C>T	NM_201590.3	NP_963884.2:p.(Leu2Phe)	NC_000010.10:g.18629859C>T	VUS	1 lab	6862b1dafa
10:5034016 AKR1C2 T>C	10	5034016	5034016	T	C	AKR1C2	c.929+7A>G	NM_001354.6	NP_001345.1:p.?	NC_000010.10:g.5034016T>C	(Likely) benign	1 lab	68648bdbdf
15:35084777 ACTC1 G>A	15	35084777	35084777	G	A	ACTC1	c.455-7C>T	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35084777G>A	(Likely) benign	1 lab	68688fb837
2:179583921 TTN C>T	2	179583921	179583921	C	T	TTN	c.24196G>A	NM_001267550.2	NP_001254479.2:p.(Asp8066Asn)	NC_000002.11:g.179583921C>T	VUS	1 lab	686ad49cc4
3:48619020 COL7A1 C>G	3	48619020	48619020	C	G	COL7A1	c.4768G>C	NM_000094.4	NP_000085.1:p.(Asp1590His)	NC_000003.11:g.48619020C>G	VUS	1 lab	686f9426d8
2:241814588 AGXT C>T	2	241814588	241814588	C	T	AGXT	c.743C>T	NM_000030.3	NP_000021.1:p.(Ala248Val)	NC_000002.11:g.241814588C>T	VUS	1 lab	6871a7334c
19:14040941 CC2D1A C>T	19	14040941	14040941	C	T	CC2D1A	c.2761C>T	NM_017721.5	NP_060191.3:p.(Arg921Trp)	NC_000019.9:g.14040941C>T	VUS	1 lab	68739b6dc1
3:18436226 SATB1 T>C	3	18436226	18436226	T	C	SATB1	c.934A>G	NM_001195470.3	NP_001182399.1:p.(Ile312Val)	NC_000003.11:g.18436226T>C	VUS	1 lab	68754595df
6:80626509 ELOVL4 T>C	6	80626509	80626509	T	C	ELOVL4	c.761A>G	NM_022726.4	NP_073563.1:p.(Tyr254Cys)	NC_000006.11:g.80626509T>C	VUS	1 lab	6875b17f02
1:120611876 NOTCH2 C>T	1	120611876	120611876	C	T	NOTCH2	c.73+72G>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611876C>T	(Likely) benign	1 lab	68785de45e
6:45459856 RUNX2 G>A	6	45459856	45459856	G	A	RUNX2	c.859+5G>A	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45459856G>A	VUS	1 lab	687e8a80f3
8:144992690 PLEC C>T	8	144992690	144992690	C	T	PLEC	c.11380G>A	NM_000445.5	NP_000436.2:p.(Ala3794Thr)	NC_000008.10:g.144992690C>T	VUS	1 lab	688018a94a
1:200943273 KIF21B G>A	1	200943273	200943273	G	A	KIF21B	c.4825C>T	NM_017596.4	NP_060066.2:p.(Leu1609Phe)	NC_000001.10:g.200943273G>A	VUS	1 lab	688371159b
11:2798229 KCNQ1 A>G	11	2798229	2798229	A	G	KCNQ1	c.1699A>G	NM_000218.3	NP_000209.2:p.(Ile567Val)	NC_000011.9:g.2798229A>G	VUS	1 lab	68860b9f38
1:116233974 VANGL1 C>T	1	116233974	116233974	C	T	VANGL1	c.1549C>T	NM_138959.3	NP_620409.1:p.(Arg517Cys)	NC_000001.10:g.116233974C>T	VUS	1 lab	6888d87882
12:116457747 MED13L G>A	12	116457747	116457747	G	A	MED13L	c.656C>T	NM_015335.5	NP_056150.1:p.(Thr219Met)	NC_000012.11:g.116457747G>A	VUS	1 lab	688aa2aff8
2:47388889 CALM2 C>G	2	47388889	47388889	C	G	CALM2	c.394G>C	NM_001743.6	NP_001734.1:p.(Asp132His)	NC_000002.11:g.47388889C>G	(Likely) pathogenic	1 lab	688c85e258
X:147014220 FMR1 A>G	X	147014220	147014220	A	G	FMR1	c.818A>G	NM_002024.6	NP_002015.1:p.(Lys273Arg)	NC_000023.10:g.147014220A>G	(Likely) benign	1 lab	688f1e3e9d
2:179633477 TTN T>G	2	179633477	179633477	T	G	TTN	c.9086A>C	NM_001267550.2	NP_001254479.2:p.(Asn3029Thr)	NC_000002.11:g.179633477T>G	VUS	1 lab	6893550a8d
4:42964963 GRXCR1 C>T	4	42964963	42964963	C	T	GRXCR1	c.439C>T	NM_001080476.3	NP_001073945.1:p.(Arg147Cys)	NC_000004.11:g.42964963C>T	(Likely) pathogenic	1 lab	689748975f
11:747542 TALDO1 T>A	11	747542	747542	T	A	TALDO1	c.61T>A	NM_006755.2	NP_006746.1:p.(Phe21Ile)	NC_000011.9:g.747542T>A	VUS	1 lab	689a2cbeea
5:145523013 LARS1 AC>A	5	145523013	145523019	AC	A	LARS1	c.1838del	NM_020117.11	NP_064502.9:p.(Gly613ValfsTer18)	NC_000005.9:g.145523019del	VUS	1 lab	689f3a2d85
7:128489451 FLNC C>T	7	128489451	128489451	C	T	FLNC	c.5018C>T	NM_001458.5	NP_001449.3:p.(Ala1673Val)	NC_000007.13:g.128489451C>T	VUS	1 lab	689ff8d966
5:77412011 AP3B1 A>G	5	77412011	77412011	A	G	AP3B1	c.1869T>C	NM_001271769.2	NP_001258698.1:p.(Ala623=)	NC_000005.9:g.77412011A>G	(Likely) benign	1 lab	68a05e92a5
3:9512555 SETD5 G>C	3	9512555	9512555	G	C	SETD5	c.3137G>C	NM_001080517.3	NP_001073986.1:p.(Gly1046Ala)	NC_000003.11:g.9512555G>C	(Likely) benign	1 lab	68a13ca112
1:154557490 ADAR T>C	1	154557490	154557490	T	C	ADAR	c.3473A>G	NM_001111.5	NP_001102.3:p.(Lys1158Arg)	NC_000001.10:g.154557490T>C	VUS	1 lab	68a188da00
19:1615775 TCF3 C>T	19	1615775	1615775	C	T	TCF3	c.1496G>A	NM_003200.5	NP_003191.1:p.(Arg499Gln)	NC_000019.9:g.1615775C>T	VUS	1 lab	68a4808e60
6:24520643 ALDH5A1 C>T	6	24520643	24520643	C	T	ALDH5A1	c.924C>T	NM_170740.1	NP_733936.1:p.(His308=)	NC_000006.11:g.24520643C>T	(Likely) benign	1 lab	68ae756663
11:94564620 AMOTL1 C>T	11	94564620	94564620	C	T	AMOTL1	c.1561C>T	NM_130847.3	NP_570899.1:p.(Arg521Ter)	NC_000011.9:g.94564620C>T	VUS	1 lab	68b3a897ed
16:9009197 USP7 T>C	16	9009197	9009197	T	C	USP7	c.992A>G	NM_003470.3	NP_003461.2:p.(Tyr331Cys)	NC_000016.9:g.9009197T>C	(Likely) pathogenic	1 lab	68b56ccbe7
5:52954468 NDUFS4 G>GT	5	52954468	52954473	G	GT	NDUFS4	c.424+19dup	NM_002495.4	NP_002486.1:p.?	NC_000005.9:g.52954473dup	(Likely) benign	1 lab	68b8fed8aa
7:94248197 SGCE C>A	7	94248197	94248197	C	A	SGCE	c.448G>T	NM_001346719.2	NP_001333648.1:p.(Val150Phe)	NC_000007.13:g.94248197C>A	VUS	1 lab	68bbcc1f7a
2:198351885 HSPD1 G>A	2	198351885	198351885	G	A	HSPD1	c.1607C>T	NM_002156.5	NP_002147.2:p.(Ala536Val)	NC_000002.11:g.198351885G>A	(Likely) pathogenic	1 lab	68c1d8d67e
7:65444769 GUSB G>A	7	65444769	65444769	G	A	GUSB	c.526C>T	NM_000181.4	NP_000172.2:p.(Leu176Phe)	NC_000007.13:g.65444769G>A	(Likely) pathogenic	1 lab	68c5385aa9
1:224581635 WDR26 C>T	1	224581635	224581635	C	T	WDR26	c.1855G>A	NM_025160.7	NP_079436.4:p.(Val619Met)	NC_000001.10:g.224581635C>T	VUS	1 lab	68cb149a6a
20:36640130 TTI1 A>G	20	36640130	36640130	A	G	TTI1	c.2089T>C	NM_014657.3	NP_055472.1:p.(Tyr697His)	NC_000020.10:g.36640130A>G	VUS	1 lab	68cfe4a90d
13:32913430 BRCA2 AAC>A	13	32913430	32913433	AAC	A	BRCA2	c.4940_4941del	NM_000059.4	NP_000050.3:p.(Thr1647SerfsTer18)	NC_000013.10:g.32913432_32913433del	(Likely) pathogenic	1 lab	68d2d05d98
10:72358516 PRF1 C>T	10	72358516	72358516	C	T	PRF1	c.961G>A	NM_001083116.3	NP_001076585.1:p.(Gly321Arg)	NC_000010.10:g.72358516C>T	VUS	1 lab	68d3fd5d32
2:145162528 ZEB2 C>T	2	145162528	145162528	C	T	ZEB2	c.467G>A	NM_014795.4	NP_055610.1:p.(Arg156His)	NC_000002.11:g.145162528C>T	VUS	1 lab	68d69b8df1
X:56591325 UBQLN2 G>T	X	56591325	56591325	G	T	UBQLN2	c.1019G>T	NM_013444.4	NP_038472.2:p.(Ser340Ile)	NC_000023.10:g.56591325G>T	VUS	1 lab	68d9d7cf2c
14:74759301 ABCD4 G>T	14	74759301	74759301	G	T	ABCD4	c.981C>A	NM_005050.4	NP_005041.1:p.(Leu327=)	NC_000014.8:g.74759301G>T	(Likely) benign	1 lab	68dabbb8bb
10:135095849 TUBGCP2 A>G	10	135095849	135095849	A	G	TUBGCP2	c.2374-3T>C	NM_001256617.2	NP_001243546.1:p.?	NC_000010.10:g.135095849A>G	(Likely) benign	1 lab	68dd9c0fce
20:2633936 NOP56 T>C	20	2633936	2633936	T	C	NOP56	c.105T>C	NM_006392.4	NP_006383.2:p.(Ser35=)	NC_000020.10:g.2633936T>C	(Likely) benign	1 lab	68de71ffd3
5:55210724 IL31RA A>G	5	55210724	55210724	A	G	IL31RA	c.1729A>G	NM_001242638.2	NP_001229567.1:p.(Ser577Gly)	NC_000005.9:g.55210724A>G	VUS	1 lab	68de7e513d
1:47034174 MKNK1 A>C	1	47034174	47034174	A	C	MKNK1	c.581-4T>G	NM_003684.7	NP_003675.3:p.?	NC_000001.10:g.47034174A>C	(Likely) benign	1 lab	68def8eb63
11:45957292 PHF21A TAAAA>T	11	45957292	45957315	TAAAA	T	PHF21A	c.1685-6_1685-3del	NM_001352025.3	NP_001338954.1:p.?	NC_000011.9:g.45957312_45957315del	(Likely) benign	1 lab	68e28fe73a
15:49097836 CEP152 T>A	15	49097836	49097836	T	A	CEP152	c.11A>T	NM_014985.4	NP_055800.2:p.(Asp4Val)	NC_000015.9:g.49097836T>A	VUS	1 lab	68e97f983f
19:11141401 SMARCA4 G>A	19	11141401	11141401	G	A	SMARCA4	c.3383-5G>A	NM_001128849.3	NP_001122321.1:p.?	NC_000019.9:g.11141401G>A	(Likely) benign	1 lab	68f3ab2f96
11:4080537 STIM1 C>T	11	4080537	4080537	C	T	STIM1	c.524C>T	NM_003156.4	NP_003147.2:p.(Thr175Ile)	NC_000011.9:g.4080537C>T	VUS	1 lab	6b6b7e085e
X:76939222 ATRX G>C	X	76939222	76939222	G	C	ATRX	c.1526C>G	NM_000489.6	NP_000480.3:p.(Thr509Ser)	NC_000023.10:g.76939222G>C	VUS	1 lab	68f709f203
17:40489785 STAT3 C>T	17	40489785	40489785	C	T	STAT3	c.641G>A	NM_139276.3	NP_644805.1:p.(Arg214Gln)	NC_000017.10:g.40489785C>T	VUS	1 lab	68f844efc2
1:16259385 SPEN C>T	1	16259385	16259385	C	T	SPEN	c.6650C>T	NM_015001.3	NP_055816.2:p.(Ala2217Val)	NC_000001.10:g.16259385C>T	VUS	1 lab	68f9f9d275
16:58590817 CNOT1 C>T	16	58590817	58590817	C	T	CNOT1	c.2413G>A	NM_001265612.2	NP_001252541.1:p.(Val805Ile)	NC_000016.9:g.58590817C>T	VUS	1 lab	69085a8615
17:61909273 PSMC5 T>C	17	61909273	61909273	T	C	PSMC5	c.1144-3T>C	NM_001199163.2	NP_001186092.1:p.?	NC_000017.10:g.61909273T>C	(Likely) benign	1 lab	6908987b50
2:170026249 LRP2 G>A	2	170026249	170026249	G	A	LRP2	c.11460C>T	NM_004525.3	NP_004516.2:p.(Ser3820=)	NC_000002.11:g.170026249G>A	(Likely) benign	1 lab	690e02c6f2
22:30035126 NF2 CT>C	22	30035126	30035128	CT	C	NF2	c.290del	NM_000268.4	NP_000259.1:p.(Leu97TrpfsTer26)	NC_000022.10:g.30035128del	(Likely) pathogenic	1 lab	690eb9c4bd
10:122612051 WDR11 A>T	10	122612051	122612051	A	T	WDR11	c.102A>T	NM_018117.12	NP_060587.8:p.(Leu34Phe)	NC_000010.10:g.122612051A>T	VUS	1 lab	690f429424
1:36937059 CSF3R A>G	1	36937059	36937059	A	G	CSF3R	c.1260T>C	NM_156039.3	NP_724781.1:p.(Thr420=)	NC_000001.10:g.36937059A>G	(Likely) benign	1 lab	6913e9974d
1:154744577 KCNN3 T>C	1	154744577	154744577	T	C	KCNN3	c.1322A>G	NM_002249.6	NP_002240.3:p.(Asn441Ser)	NC_000001.10:g.154744577T>C	VUS	1 lab	6915a43f34
5:147451712 SPINK5 G>A	5	147451712	147451712	G	A	SPINK5	c.211G>A	NM_006846.4	NP_006837.2:p.(Glu71Lys)	NC_000005.9:g.147451712G>A	VUS	1 lab	6917f285c4
1:201465376 CSRP1 A>G	1	201465376	201465376	A	G	CSRP1	c.56T>C	NM_004078.3	NP_004069.1:p.(Phe19Ser)	NC_000001.10:g.201465376A>G	VUS	1 lab	6923fca387
7:151900039 KMT2C T>C	7	151900039	151900039	T	C	KMT2C	c.4072A>G	NM_170606.3	NP_733751.2:p.(Thr1358Ala)	NC_000007.13:g.151900039T>C	VUS	1 lab	692bf82251
5:176942691 DDX41 G>A	5	176942691	176942691	G	A	DDX41	c.566C>T	NM_016222.4	NP_057306.2:p.(Pro189Leu)	NC_000005.9:g.176942691G>A	(Likely) pathogenic	1 lab	692d4158c6
1:210856759 KCNH1 G>T	1	210856759	210856759	G	T	KCNH1	c.2834C>A	NM_172362.3	NP_758872.1:p.(Thr945Asn)	NC_000001.10:g.210856759G>T	VUS	1 lab	692db0c64d
X:69250308 EDA C>T	X	69250308	69250308	C	T	EDA	c.742-11C>T	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69250308C>T	(Likely) benign	1 lab	692fca1631
12:125450295 DHX37 T>C	12	125450295	125450295	T	C	DHX37	c.1654A>G	NM_032656.4	NP_116045.2:p.(Arg552Gly)	NC_000012.11:g.125450295T>C	VUS	1 lab	6933b714c5
3:171362701 PLD1 T>A	3	171362701	171362701	T	A	PLD1	c.2542A>T	NM_002662.5	NP_002653.1:p.(Arg848Ter)	NC_000003.11:g.171362701T>A	(Likely) pathogenic	1 lab	69360f444f
12:51402905 SLC11A2 T>G	12	51402905	51402905	T	G	SLC11A2	c.17A>C	NM_001174130.2	NP_001167601.1:p.(Tyr6Ser)	NC_000012.11:g.51402905T>G	(Likely) benign	1 lab	6939ac03c9
3:58110211 FLNB G>A	3	58110211	58110211	G	A	FLNB	c.3877G>A	NM_001457.4	NP_001448.2:p.(Glu1293Lys)	NC_000003.11:g.58110211G>A	VUS	1 lab	6939d38a7e
12:7052973 ATN1 A>G	12	7052973	7052973	A	G	ATN1				NC_000012.11:g.7052973A>G	(Likely) benign	1 lab	693a97ac3d
7:117306946 CFTR A>G	7	117306946	117306946	A	G	CFTR	c.4243-16A>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117306946A>G	(Likely) benign	1 lab	693c81a62b
2:42997667 HAAO C>T	2	42997667	42997667	C	T	HAAO	c.406G>A	NM_012205.3	NP_036337.2:p.(Asp136Asn)	NC_000002.11:g.42997667C>T	VUS	1 lab	693cf75258
3:51308421 DOCK3 G>A	3	51308421	51308421	G	A	DOCK3	c.2531G>A	NM_004947.5	NP_004938.1:p.(Arg844His)	NC_000003.11:g.51308421G>A	VUS	1 lab	693d386ec4
2:164466268 FIGN C>G	2	164466268	164466268	C	G	FIGN	c.2074G>C	NM_018086.4	NP_060556.2:p.(Asp692His)	NC_000002.11:g.164466268C>G	VUS	1 lab	69412bc19c
17:43552923 PLEKHM1 G>A	17	43552923	43552923	G	A	PLEKHM1	c.466C>T	NM_014798.3	NP_055613.1:p.(Arg156Trp)	NC_000017.10:g.43552923G>A	VUS	1 lab	69431e9f39
1:78408380 NEXN G>C	1	78408380	78408380	G	C	NEXN	c.1894G>C	NM_144573.4	NP_653174.3:p.(Glu632Gln)	NC_000001.10:g.78408380G>C	(Likely) benign	1 lab	6945ce7ae4
X:153295789 MECP2 G>C	X	153295789	153295789	G	C	MECP2	c.*29C>G	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153295789G>C	VUS	1 lab	694d6ec22c
X:119066123 NKAP C>T	X	119066123	119066123	C	T	NKAP	c.794G>A	NM_024528.4	NP_078804.2:p.(Ser265Asn)	NC_000023.10:g.119066123C>T	VUS	1 lab	6995ec3c50
18:29172983 TTR C>T	18	29172983	29172983	C	T	TTR	c.194C>T	NM_000371.4	NP_000362.1:p.(Ala65Val)	NC_000018.9:g.29172983C>T	(Likely) pathogenic	1 lab	695292a206
6:29912398 HLA-A A>G	6	29912398	29912398	A	G	HLA-A	c.1012+5A>G	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29912398A>G	(Likely) benign	1 lab	6954ecb80b
16:15434876 MISSING 16342376>DUP	16	15434876	16342376	16342376	DUP	MISSING				NC_000016.9:g.15434876_16342376dup	(Likely) pathogenic	1 lab	6955d330c9
18:6947161 LAMA1 C>T	18	6947161	6947161	C	T	LAMA1	c.8844+1G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6947161C>T	(Likely) pathogenic	1 lab	6957bfbbef
1:36939227 CSF3R C>T	1	36939227	36939227	C	T	CSF3R	c.486-4G>A	NM_000760.4	NP_000751.1:p.?	NC_000001.10:g.36939227C>T	(Likely) benign	1 lab	695817f86a
12:7053011 RNU7-1 AGGCTTTCT>A	12	7053011	7053025	AGGCTTTCT	A	RNU7-1	n.40_47del	NR_023317.1		NC_000012.11:g.7053018_7053025del	(Likely) pathogenic	1 lab	6959e339dc
12:57532352 LRP1 G>A	12	57532352	57532352	G	A	LRP1	c.178G>A	NM_002332.3	NP_002323.2:p.(Ala60Thr)	NC_000012.11:g.57532352G>A	VUS	1 lab	695bfa89fe
3:48613106 COL7A1 G>A	3	48613106	48613106	G	A	COL7A1	c.5932C>T	NM_000094.4	NP_000085.1:p.(Arg1978Ter)	NC_000003.11:g.48613106G>A	(Likely) pathogenic	1 lab	695cfaa920
13:32900254 BRCA2 T>C	13	32900254	32900254	T	C	BRCA2	c.442T>C	NM_000059.4	NP_000050.3:p.(Cys148Arg)	NC_000013.10:g.32900254T>C	VUS	1 lab	6960a8dbcb
11:72307673 PDE2A C>T	11	72307673	72307673	C	T	PDE2A	c.453G>A	NM_002599.5	NP_002590.1:p.(Ala151=)	NC_000011.9:g.72307673C>T	(Likely) benign	1 lab	696405eec9
18:34267143 FHOD3 T>C	18	34267143	34267143	T	C	FHOD3	c.1496+2T>C	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34267143T>C	VUS	1 lab	6966ccc872
6:146755522 GRM1 G>C	6	146755522	146755522	G	C	GRM1	c.3175G>C	NM_001278064.2	NP_001264993.1:p.(Gly1059Arg)	NC_000006.11:g.146755522G>C	VUS	1 lab	696707d667
11:119169182 CBL C>T	11	119169182	119169182	C	T	CBL	c.2366C>T	NM_005188.4	NP_005179.2:p.(Thr789Ile)	NC_000011.9:g.119169182C>T	VUS	1 lab	696ff1fecc
X:129159031 BCORL1 CAGA>C	X	129159031	129159043	CAGA	C	BCORL1	c.3765_3767del	NM_021946.5	NP_068765.3:p.(Glu1257del)	NC_000023.10:g.129159041_129159043del	(Likely) benign	1 lab	69701341be
2:179621511 TTN A>G	2	179621511	179621511	A	G	TTN	c.10692T>C	NM_001267550.2	NP_001254479.2:p.(Asp3564=)	NC_000002.11:g.179621511A>G	(Likely) benign	1 lab	6971688baf
9:140671113 EHMT1 G>A	9	140671113	140671113	G	A	EHMT1	c.1835G>A	NM_024757.5	NP_079033.4:p.(Arg612His)	NC_000009.11:g.140671113G>A	VUS	1 lab	697a6112b8
12:49431074 KMT2D A>T	12	49431074	49431074	A	T	KMT2D	c.10065T>A	NM_003482.4	NP_003473.3:p.(His3355Gln)	NC_000012.11:g.49431074A>T	VUS	1 lab	6981798536
2:54891629 SPTBN1 G>A	2	54891629	54891629	G	A	SPTBN1	c.6460G>A	NM_003128.3	NP_003119.2:p.(Ala2154Thr)	NC_000002.11:g.54891629G>A	VUS	1 lab	6982b10763
3:42251498 TRAK1 G>C	3	42251498	42251498	G	C	TRAK1	c.1984G>C	NM_001265608.2	NP_001252537.1:p.(Val662Leu)	NC_000003.11:g.42251498G>C	VUS	1 lab	6982c7453c
9:101908774 TGFBR1 G>C	9	101908774	101908774	G	C	TGFBR1	c.1150G>C	NM_001306210.2	NP_001293139.1:p.(Ala384Pro)	NC_000009.11:g.101908774G>C	VUS	1 lab	698677ca53
7:21934397 DNAH11 C>G	7	21934397	21934397	C	G	DNAH11	c.12907C>G	NM_001277115.2	NP_001264044.1:p.(Leu4303Val)	NC_000007.13:g.21934397C>G	VUS	1 lab	698821b7c5
2:166859170 SCN1A C>T	2	166859170	166859170	C	T	SCN1A	c.4096G>A	NM_001165963.4	NP_001159435.1:p.(Val1366Ile)	NC_000002.11:g.166859170C>T	(Likely) pathogenic	1 lab	6992cc6bd0
22:45923827 FBLN1 A>G	22	45923827	45923827	A	G	FBLN1	c.422A>G	NM_006486.3	NP_006477.3:p.(Gln141Arg)	NC_000022.10:g.45923827A>G	(Likely) benign	1 lab	69942a0ed1
22:29279861 ZNRF3 C>T	22	29279861	29279861	C	T	ZNRF3	c.107C>T	NM_001206998.2	NP_001193927.1:p.(Pro36Leu)	NC_000022.10:g.29279861C>T	VUS	1 lab	6995e66ab8
1:45800156 MUTYH C>A	1	45800156	45800156	C	A	MUTYH	c.64G>T	NM_001128425.2	NP_001121897.1:p.(Val22Leu)	NC_000001.10:g.45800156C>A	VUS	1 lab	6998c0f870
17:37761752 NEUROD2 G>T	17	37761752	37761752	G	T	NEUROD2	c.1101C>A	NM_006160.4	NP_006151.3:p.(His367Gln)	NC_000017.10:g.37761752G>T	VUS	1 lab	699a499414
2:179469004 TTN TACTG>T	2	179469004	179469010	TACTG	T	TTN	c.54406_54409del	NM_001267550.2	NP_001254479.2:p.(Gln18136MetfsTer8)	NC_000002.11:g.179469007_179469010del	(Likely) pathogenic	1 lab	699c0382d1
14:21838046 SUPT16H T>C	14	21838046	21838046	T	C	SUPT16H	c.493A>G	NM_007192.4	NP_009123.1:p.(Ser165Gly)	NC_000014.8:g.21838046T>C	VUS	1 lab	699fdb9ae5
3:71101717 FOXP1 G>GT	3	71101717	71101719	G	GT	FOXP1	c.480dup	NM_001349338.3	NP_001336267.1:p.(Gln161ThrfsTer9)	NC_000003.11:g.71101719dup	(Likely) pathogenic	1 lab	69a2eaa401
10:102750642 TWNK T>C	10	102750642	102750642	T	C	TWNK	c.1609T>C	NM_021830.5	NP_068602.2:p.(Tyr537His)	NC_000010.10:g.102750642T>C	VUS	1 lab	69a6f82378
3:9515182 SETD5 C>T	3	9515182	9515182	C	T	SETD5	c.3458C>T	NM_001080517.3	NP_001073986.1:p.(Ser1153Leu)	NC_000003.11:g.9515182C>T	(Likely) benign	1 lab	69afa03839
14:23859252 MYH6 C>G	14	23859252	23859252	C	G	MYH6	c.3732+14G>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23859252C>G	(Likely) benign	1 lab	69affab76e
19:39225486 CAPN12 G>A	19	39225486	39225486	G	A	CAPN12	c.1711C>T	NM_144691.4	NP_653292.2:p.(Leu571Phe)	NC_000019.9:g.39225486G>A	VUS	1 lab	69b005ade2
X:32827739 DMD T>A	X	32827739	32827739	T	A	DMD	c.531-11A>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32827739T>A	(Likely) benign	1 lab	69b0b1b76b
8:74893401 TMEM70 TTC>T	8	74893401	74893406	TTC	T	TMEM70	c.332_333del	NM_017866.6	NP_060336.3:p.(Ser111LeufsTer19)	NC_000008.10:g.74893405_74893406del	(Likely) pathogenic	1 lab	69b70d0d20
11:118454542 ARCN1 A>G	11	118454542	118454542	A	G	ARCN1	c.466A>G	NM_001655.5	NP_001646.2:p.(Lys156Glu)	NC_000011.9:g.118454542A>G	VUS	1 lab	69bcb0e0f7
X:153588547 FLNA C>T	X	153588547	153588547	C	T	FLNA	c.3616G>A	NM_001456.4	NP_001447.2:p.(Glu1206Lys)	NC_000023.10:g.153588547C>T	VUS	1 lab	69bf5c74cc
X:37668943 CYBB A>C	X	37668943	37668943	A	C	CYBB	c.1585A>C	NM_000397.4	NP_000388.2:p.(Asn529His)	NC_000023.10:g.37668943A>C	VUS	1 lab	69bf5d233d
17:7750621 KDM6B A>G	17	7750621	7750621	A	G	KDM6B	c.1108A>G	NM_001080424.2	NP_001073893.1:p.(Met370Val)	NC_000017.10:g.7750621A>G	VUS	1 lab	69cce09023
2:179595298 TTN T>A	2	179595298	179595298	T	A	TTN	c.17962A>T	NM_001267550.2	NP_001254479.2:p.(Thr5988Ser)	NC_000002.11:g.179595298T>A	VUS	1 lab	69ce6be95d
1:220324706 RAB3GAP2 T>C	1	220324706	220324706	T	C	RAB3GAP2	c.4069A>G	NM_012414.4	NP_036546.2:p.(Thr1357Ala)	NC_000001.10:g.220324706T>C	VUS	1 lab	69cf55208b
7:42187951 GLI3 C>T	7	42187951	42187951	C	T	GLI3	c.241G>A	NM_000168.6	NP_000159.3:p.(Glu81Lys)	NC_000007.13:g.42187951C>T	VUS	1 lab	69d3230fac
12:21958118 ABCC9 G>A	12	21958118	21958118	G	A	ABCC9	c.4640C>T	NM_005691.4	NP_005682.2:p.(Thr1547Ile)	NC_000012.11:g.21958118G>A	VUS	1 lab	69d467fced
10:101180424 GOT1 C>T	10	101180424	101180424	C	T	GOT1	c.257G>A	NM_002079.3	NP_002070.1:p.(Arg86His)	NC_000010.10:g.101180424C>T	VUS	1 lab	69d8d887e2
4:187532707 FAT1 A>G	4	187532707	187532707	A	G	FAT1	c.9686T>C	NM_005245.4	NP_005236.2:p.(Val3229Ala)	NC_000004.11:g.187532707A>G	VUS	1 lab	69de40b617
17:39925418 JUP C>T	17	39925418	39925418	C	T	JUP	c.510G>A	NM_002230.4	NP_002221.1:p.(Ser170=)	NC_000017.10:g.39925418C>T	(Likely) benign	1 lab	69e37c3b7e
3:48605075 COL7A1 GA>G	3	48605075	48605082	GA	G	COL7A1	c.7984-7del	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48605082del	(Likely) benign	1 lab	69e4a5558f
17:39742731 KRT14 A>T	17	39742731	39742731	A	T	KRT14	c.356T>A	NM_000526.5	NP_000517.3:p.(Met119Lys)	NC_000017.10:g.39742731A>T	(Likely) pathogenic	1 lab	69e59b88ac
20:31024762 ASXL1 A>G	20	31024762	31024762	A	G	ASXL1	c.4247A>G	NM_015338.6	NP_056153.2:p.(Glu1416Gly)	NC_000020.10:g.31024762A>G	(Likely) benign	1 lab	69e7e7b162
3:49067983 QRICH1 T>C	3	49067983	49067983	T	C	QRICH1	c.2233A>G	NM_017730.4	NP_060200.2:p.(Ile745Val)	NC_000003.11:g.49067983T>C	VUS	1 lab	69f1a9b2aa
11:108143460 ATM T>G	11	108143460	108143460	T	G	ATM	c.3165T>G	NM_000051.4	NP_000042.3:p.(Tyr1055Ter)	NC_000011.9:g.108143460T>G	(Likely) pathogenic	1 lab	69f904c107
12:7045891 ATN1 A>ACAGCAGCAGCAG	12	7045891	7045938	A	ACAGCAGCAGCAG	ATN1	c.1497_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln499_Gln502dup)	NC_000012.11:g.7045927_7045938dup	(Likely) benign	1 lab	69fc4abad4
X:17394452 NHS A>C	X	17394452	17394452	A	C	NHS	c.565+7A>C	NM_198270.4	NP_938011.1:p.?	NC_000023.10:g.17394452A>C	(Likely) benign	1 lab	69ff6436b9
12:49443526 KMT2D C>T	12	49443526	49443526	C	T	KMT2D	c.3845G>A	NM_003482.4	NP_003473.3:p.(Gly1282Asp)	NC_000012.11:g.49443526C>T	VUS	1 lab	6a0058f9c2
3:142178065 ATR T>C	3	142178065	142178065	T	C	ATR	c.7349+4A>G	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142178065T>C	(Likely) benign	1 lab	6a0157842c
1:210857221 KCNH1 C>T	1	210857221	210857221	C	T	KCNH1	c.2372G>A	NM_172362.3	NP_758872.1:p.(Arg791His)	NC_000001.10:g.210857221C>T	(Likely) benign	1 lab	6a03da5dae
12:56740641 STAT2 C>G	12	56740641	56740641	C	G	STAT2	c.1823G>C	NM_005419.4	NP_005410.1:p.(Gly608Ala)	NC_000012.11:g.56740641C>G	VUS	1 lab	6a051c37f6
2:179400692 TTN AATTT>A	2	179400692	179400704	AATTT	A	TTN	c.100765+13_100765+16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400701_179400704del	(Likely) benign	1 lab	6a06fa1c1a
1:103405981 COL11A1 C>A	1	103405981	103405981	C	A	COL11A1	c.3286G>T	NM_001854.4	NP_001845.3:p.(Gly1096Cys)	NC_000001.10:g.103405981C>A	VUS	1 lab	6a07de8c1e
22:19959473 ARVCF C>T	22	19959473	19959473	C	T	ARVCF	c.2717G>A	NM_001670.3	NP_001661.1:p.(Arg906Gln)	NC_000022.10:g.19959473C>T	(Likely) benign	1 lab	6a0bed8a82
5:13917287 DNAH5 C>A	5	13917287	13917287	C	A	DNAH5	c.1054G>T	NM_001369.3	NP_001360.1:p.(Glu352Ter)	NC_000005.9:g.13917287C>A	(Likely) pathogenic	1 lab	6a15a1efa2
X:110406198 PAK3 A>G	X	110406198	110406198	A	G	PAK3	c.524A>G	NM_002578.5	NP_002569.1:p.(Asp175Gly)	NC_000023.10:g.110406198A>G	VUS	1 lab	6a169ec2ce
18:10763029 PIEZO2 C>T	18	10763029	10763029	C	T	PIEZO2	c.2939G>A	NM_022068.4	NP_071351.2:p.(Arg980His)	NC_000018.9:g.10763029C>T	(Likely) benign	1 lab	6a16d4e93b
15:89844688 FANCI A>C	15	89844688	89844688	A	C	FANCI	c.3006+15A>C	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89844688A>C	(Likely) benign	1 lab	6a217a7b3c
10:71139779 HK1 G>A	10	71139779	71139779	G	A	HK1	c.1193G>A	NM_000188.3	NP_000179.2:p.(Arg398His)	NC_000010.10:g.71139779G>A	VUS	1 lab	6a29716605
11:34988294 PDHX C>T	11	34988294	34988294	C	T	PDHX	c.749C>T	NM_003477.3	NP_003468.2:p.(Thr250Ile)	NC_000011.9:g.34988294C>T	(Likely) benign	1 lab	6a370dadf8
5:178413947 GRM6 T>C	5	178413947	178413947	T	C	GRM6	c.1392A>G	NM_000843.4	NP_000834.2:p.(Gly464=)	NC_000005.9:g.178413947T>C	(Likely) benign	1 lab	6a3c143662
4:113353657 ALPK1 C>T	4	113353657	113353657	C	T	ALPK1	c.2954C>T	NM_025144.4	NP_079420.3:p.(Ala985Val)	NC_000004.11:g.113353657C>T	(Likely) benign	1 lab	6a3d4cd4c8
3:9482158 SETD5 C>T	3	9482158	9482158	C	T	SETD5	c.586C>T	NM_001080517.3	NP_001073986.1:p.(Gln196Ter)	NC_000003.11:g.9482158C>T	(Likely) pathogenic	1 lab	6a44275d93
3:124181409 KALRN C>T	3	124181409	124181409	C	T	KALRN	c.3954C>T	NM_001024660.5	NP_001019831.2:p.(Ile1318=)	NC_000003.11:g.124181409C>T	(Likely) benign	1 lab	6a4476abc0
12:52911475 KRT5 G>T	12	52911475	52911475	G	T	KRT5	c.991C>A	NM_000424.4	NP_000415.2:p.(Arg331Ser)	NC_000012.11:g.52911475G>T	(Likely) pathogenic	1 lab	6a45c1c7ce
X:48934353 WDR45 C>A	X	48934353	48934353	C	A	WDR45	c.295G>T	NM_007075.4	NP_009006.2:p.(Glu99Ter)	NC_000023.10:g.48934353C>A	(Likely) pathogenic	1 lab	6a48b78ea6
7:75183403 HIP1 A>G	7	75183403	75183403	A	G	HIP1	c.2158+9T>C	NM_005338.7	NP_005329.3:p.?	NC_000007.13:g.75183403A>G	(Likely) benign	1 lab	6a4bf3a6ea
11:57379359 SERPING1 G>T	11	57379359	57379359	G	T	SERPING1	c.1199G>T	NM_000062.3	NP_000053.2:p.(Arg400Leu)	NC_000011.9:g.57379359G>T	VUS	1 lab	6a54772432
1:160109408 ATP1A2 A>AC	1	160109408	160109410	A	AC	ATP1A2	c.2841-20dup	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160109410dup	(Likely) benign	1 lab	6a550d807b
10:68535199 CTNNA3 C>T	10	68535199	68535199	C	T	CTNNA3	c.1128+3G>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535199C>T	(Likely) benign	1 lab	6a61f0ab53
17:65850171 BPTF A>G	17	65850171	65850171	A	G	BPTF	c.729A>G	NM_004459.7	NP_004450.3:p.(Ile243Met)	NC_000017.10:g.65850171A>G	VUS	1 lab	6a62e2954c
2:15307429 NBAS C>CACA	2	15307429	15307433	C	CACA	NBAS	c.6856_6858dup	NM_015909.4	NP_056993.2:p.(Cys2286dup)	NC_000002.11:g.15307431_15307433dup	VUS	1 lab	6a64d18fee
X:48934417 WDR45 G>T	X	48934417	48934417	G	T	WDR45	c.236-5C>A	NM_007075.4	NP_009006.2:p.?	NC_000023.10:g.48934417G>T	(Likely) benign	1 lab	6a6b44bf14
1:160261683 COPA C>A	1	160261683	160261683	C	A	COPA	c.3184G>T	NM_004371.4	NP_004362.2:p.(Val1062Leu)	NC_000001.10:g.160261683C>A	(Likely) benign	1 lab	6a6b6ce30b
10:43601945 RET G>A	10	43601945	43601945	G	A	RET	c.989G>A	NM_020975.6	NP_066124.1:p.(Arg330Gln)	NC_000010.10:g.43601945G>A	(Likely) pathogenic	1 lab	6a6e7cebbe
2:166872114 SCN1A TACC>T	2	166872114	166872117	TACC	T	SCN1A	c.3550_3550+2del	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166872115_166872117del	(Likely) pathogenic	1 lab	6a73e088fe
14:100706121 YY1 C>T	14	100706121	100706121	C	T	YY1	c.540C>T	NM_003403.5	NP_003394.1:p.(Ser180=)	NC_000014.8:g.100706121C>T	(Likely) benign	1 lab	6a73fd5193
16:23641439 PALB2 G>GC	16	23641439	23641440	G	GC	PALB2	c.2035_2036insG	NM_024675.4	NP_078951.2:p.(Pro679ArgfsTer36)	NC_000016.9:g.23641439_23641440insC	(Likely) pathogenic	1 lab	6a7a16f32a
1:120512175 NOTCH2 C>G	1	120512175	120512175	C	G	NOTCH2	c.1067G>C	NM_024408.4	NP_077719.2:p.(Arg356Pro)	NC_000001.10:g.120512175C>G	VUS	1 lab	6a7c8a4280
10:89717653 PTEN CT>C	10	89717653	89717654	CT	C	PTEN	c.679del	NM_000314.8	NP_000305.3:p.(Ser227ProfsTer29)	NC_000010.10:g.89717654del	(Likely) pathogenic	1 lab	6a7f98f076
19:1619374 TCF3 C>T	19	1619374	1619374	C	T	TCF3	c.1267G>A	NM_003200.5	NP_003191.1:p.(Gly423Arg)	NC_000019.9:g.1619374C>T	VUS	1 lab	6a82d6a5be
1:22169859 HSPG2 C>T	1	22169859	22169859	C	T	HSPG2	c.8689G>A	NM_005529.7	NP_005520.4:p.(Gly2897Arg)	NC_000001.10:g.22169859C>T	VUS	1 lab	6a8c774547
18:28670976 DSC2 G>A	18	28670976	28670976	G	A	DSC2	c.474+15C>T	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28670976G>A	(Likely) benign	1 lab	6a90b81fd3
19:57742472 AURKC G>C	19	57742472	57742472	G	C	AURKC	c.-145G>C	NM_001015878.2	NP_001015878.1:p.?	NC_000019.9:g.57742472G>C	(Likely) benign	1 lab	6a9518d1f8
3:52387113 DNAH1 C>G	3	52387113	52387113	C	G	DNAH1	c.3028-6C>G	NM_015512.5	NP_056327.4:p.?	NC_000003.11:g.52387113C>G	(Likely) benign	1 lab	6a98980cca
9:34650446 IL11RA A>C	9	34650446	34650446	A	C	IL11RA				NC_000009.11:g.34650446A>C	(Likely) pathogenic	1 lab	6a9a31c538
15:89401109 ACAN A>G	15	89401109	89401109	A	G	ACAN	c.5293A>G	NM_013227.4	NP_037359.3:p.(Ile1765Val)	NC_000015.9:g.89401109A>G	(Likely) benign	1 lab	6a9b70d323
1:154560582 ADAR G>A	1	154560582	154560582	G	A	ADAR	c.2134+19C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154560582G>A	(Likely) benign	1 lab	6a9be5225b
7:117432558 CTTNBP2 A>G	7	117432558	117432558	A	G	CTTNBP2	c.692T>C	NM_033427.3	NP_219499.1:p.(Leu231Pro)	NC_000007.13:g.117432558A>G	VUS	1 lab	6a9ecff87e
16:28877768 SH2B1 C>T	16	28877768	28877768	C	T	SH2B1	c.353C>T	NM_001145795.2	NP_001139267.1:p.(Ala118Val)	NC_000016.9:g.28877768C>T	VUS	1 lab	6aa3d7687f
16:2216156 TRAF7 C>G	16	2216156	2216156	C	G	TRAF7	c.139+219C>G	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2216156C>G	VUS	1 lab	6aa6d87d8e
5:61602318 KIF2A G>C	5	61602318	61602318	G	C	KIF2A	c.19G>C	NM_001098511.3	NP_001091981.1:p.(Gly7Arg)	NC_000005.9:g.61602318G>C	VUS	1 lab	6ab2daf710
15:34532860 SLC12A6 AC>A	15	34532860	34532862	AC	A	SLC12A6	c.2436+1del	NM_133647.2	NP_598408.1:p.?	NC_000015.9:g.34532862del	(Likely) pathogenic	1 lab	6ab52f23a7
7:117432258 CTTNBP2 G>A	7	117432258	117432258	G	A	CTTNBP2	c.992C>T	NM_033427.3	NP_219499.1:p.(Ser331Phe)	NC_000007.13:g.117432258G>A	VUS	1 lab	6ab56a82d1
X:84563135 POF1B T>A	X	84563135	84563135	T	A	POF1B	c.1045A>T	NM_024921.4	NP_079197.3:p.(Met349Leu)	NC_000023.10:g.84563135T>A	(Likely) benign	1 lab	6ab6052018
2:179544702 TTN C>T	2	179544702	179544702	C	T	TTN	c.32548G>A	NM_001256850.1	NP_001243779.1:p.(Val10850Ile)	NC_000002.11:g.179544702C>T	VUS	1 lab	6ab80046c2
8:121160094 COL14A1 C>T	8	121160094	121160094	C	T	COL14A1	c.13C>T	NM_021110.4	NP_066933.1:p.(Gln5Ter)	NC_000008.10:g.121160094C>T	VUS	1 lab	6ab8f2d42c
2:225368439 CUL3 A>T	2	225368439	225368439	A	T	CUL3	c.1307T>A	NM_003590.5	NP_003581.1:p.(Leu436Ter)	NC_000002.11:g.225368439A>T	(Likely) pathogenic	1 lab	6abae1563b
2:113404975 SLC20A1 A>G	2	113404975	113404975	A	G	SLC20A1	c.409A>G	NM_005415.5	NP_005406.3:p.(Thr137Ala)	NC_000002.11:g.113404975A>G	VUS	1 lab	6abc636b1c
13:111102670 COL4A2 C>T	13	111102670	111102670	C	T	COL4A2	c.1208C>T	NM_001846.4	NP_001837.2:p.(Pro403Leu)	NC_000013.10:g.111102670C>T	(Likely) benign	1 lab	6ac299840e
18:19429270 MIB1 A>G	18	19429270	19429270	A	G	MIB1	c.2507A>G	NM_020774.4	NP_065825.1:p.(His836Arg)	NC_000018.9:g.19429270A>G	VUS	1 lab	6ac4149129
X:30739049 GK C>T	X	30739049	30739049	C	T	GK	c.1420C>T	NM_000167.6	NP_000158.1:p.(Leu474Phe)	NC_000023.10:g.30739049C>T	VUS	1 lab	6ac41ecd55
3:11067455 SLC6A1 A>G	3	11067455	11067455	A	G	SLC6A1	c.850-4A>G	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11067455A>G	(Likely) benign	1 lab	6ac4e9ef06
17:33434387 RAD51D G>A	17	33434387	33434387	G	A	RAD51D	c.343C>T	NM_002878.4	NP_002869.3:p.(Gln115Ter)	NC_000017.10:g.33434387G>A	(Likely) pathogenic	1 lab	6ac560401f
11:108204640 ATM C>T	11	108204640	108204640	C	T	ATM	c.7955C>T	NM_000051.4	NP_000042.3:p.(Pro2652Leu)	NC_000011.9:g.108204640C>T	VUS	1 lab	6ac5c4c8ab
7:35242128 TBX20 G>A	7	35242128	35242128	G	A	TBX20	c.1258C>T	NM_001077653.2	NP_001071121.1:p.(Arg420Ter)	NC_000007.13:g.35242128G>A	VUS	1 lab	6ac8aa7aa3
17:65908195 BPTF G>A	17	65908195	65908195	G	A	BPTF	c.4573G>A	NM_004459.7	NP_004450.3:p.(Gly1525Arg)	NC_000017.10:g.65908195G>A	VUS	1 lab	6ad7cc0e5d
2:158674892 ACVR1 G>C	2	158674892	158674892	G	C	ACVR1	c.-8+5C>G	NM_001105.5	NP_001096.1:p.?	NC_000002.11:g.158674892G>C	VUS	1 lab	6ad9fd7b7e
9:139410471 NOTCH1 A>G	9	139410471	139410471	A	G	NOTCH1	c.1631T>C	NM_017617.5	NP_060087.3:p.(Leu544Pro)	NC_000009.11:g.139410471A>G	VUS	1 lab	6ada0d4b8b
18:34298341 FHOD3 C>A	18	34298341	34298341	C	A	FHOD3	c.2555C>A	NM_025135.5	NP_079411.2:p.(Pro852His)	NC_000018.9:g.34298341C>A	VUS	1 lab	6adc8b90fa
11:93911556 PANX1 C>G	11	93911556	93911556	C	G	PANX1	c.343C>G	NM_015368.4	NP_056183.2:p.(Leu115Val)	NC_000011.9:g.93911556C>G	VUS	1 lab	6adf10b497
11:688376 DEAF1 C>T	11	688376	688376	C	T	DEAF1	c.472G>A	NM_021008.4	NP_066288.2:p.(Val158Met)	NC_000011.9:g.688376C>T	VUS	1 lab	6adf3bdca9
12:57556638 LRP1 C>T	12	57556638	57556638	C	T	LRP1	c.2405-3C>T	NM_002332.3	NP_002323.2:p.?	NC_000012.11:g.57556638C>T	(Likely) benign	1 lab	6ae0ee5529
11:125887063 CDON G>A	11	125887063	125887063	G	A	CDON	c.848C>T	NM_016952.5	NP_058648.4:p.(Ala283Val)	NC_000011.9:g.125887063G>A	(Likely) benign	1 lab	6ae6af6f6d
2:121748015 GLI2 C>A	2	121748015	121748015	C	A	GLI2	c.4525C>A	NM_005270.5	NP_005261.2:p.(Gln1509Lys)	NC_000002.11:g.121748015C>A	VUS	1 lab	6ae8ca60ad
17:29587481 NF1 C>T	17	29587481	29587481	C	T	NF1	c.4462C>T	NM_000267.3	NP_000258.1:p.(Arg1488Cys)	NC_000017.10:g.29587481C>T	VUS	1 lab	6aeb16b014
3:49160759 LAMB2 C>T	3	49160759	49160759	C	T	LAMB2	c.4030G>A	NM_002292.4	NP_002283.3:p.(Glu1344Lys)	NC_000003.11:g.49160759C>T	VUS	1 lab	6aed922ece
19:48184057 BICRA G>A	19	48184057	48184057	G	A	BICRA	c.1630G>A	NM_015711.3	NP_056526.3:p.(Ala544Thr)	NC_000019.9:g.48184057G>A	(Likely) benign	1 lab	6aede781dc
12:49421863 KMT2D T>C	12	49421863	49421863	T	C	KMT2D	c.14444A>G	NM_003482.4	NP_003473.3:p.(Tyr4815Cys)	NC_000012.11:g.49421863T>C	(Likely) benign	1 lab	6aef2bbec9
17:44061252 MAPT C>T	17	44061252	44061252	C	T	MAPT	c.1082C>T	NM_001123066.4	NP_001116538.2:p.(Ala361Val)	NC_000017.10:g.44061252C>T	VUS	1 lab	6aef743fcc
7:151945010 KMT2C G>A	7	151945010	151945010	G	A	KMT2C	c.2509C>T	NM_170606.3	NP_733751.2:p.(Pro837Ser)	NC_000007.13:g.151945010G>A	VUS	1 lab	6aefa13697
12:49426997 KMT2D G>A	12	49426997	49426997	G	A	KMT2D	c.11491C>T	NM_003482.4	NP_003473.3:p.(Gln3831Ter)	NC_000012.11:g.49426997G>A	(Likely) pathogenic	1 lab	6af1e298bb
19:50017664 FCGRT G>C	19	50017664	50017664	G	C	FCGRT	c.522G>C	NM_004107.5	NP_004098.1:p.(Glu174Asp)	NC_000019.9:g.50017664G>C	VUS	1 lab	6af27e7c9c
7:155592770 SHH G>T	7	155592770	155592770	G	T	SHH	c.471C>A	NM_001310462.2	NP_001297391.1:p.(Cys157Ter)	NC_000007.13:g.155592770G>T	VUS	1 lab	6af3e11a9c
X:30739047 GK G>A	X	30739047	30739047	G	A	GK	c.1418G>A	NM_000167.6	NP_000158.1:p.(Ser473Asn)	NC_000023.10:g.30739047G>A	VUS	1 lab	6af4b383b9
1:53675794 CPT2 A>G	1	53675794	53675794	A	G	CPT2	c.448A>G	NM_000098.3	NP_000089.1:p.(Thr150Ala)	NC_000001.10:g.53675794A>G	VUS	1 lab	6af6d0ff76
17:40722187 MLX C>T	17	40722187	40722187	C	T	MLX	c.826C>T	NM_170607.3	NP_733752.1:p.(His276Tyr)	NC_000017.10:g.40722187C>T	VUS	1 lab	6afd9843a2
1:156100518 LMNA G>T	1	156100518	156100518	G	T	LMNA	c.467G>T	NM_170707.4	NP_733821.1:p.(Arg156Leu)	NC_000001.10:g.156100518G>T	VUS	1 lab	6b08512625
22:51169501 SHANK3 GC>G	22	51169501	51169506	GC	G	SHANK3	c.5187del	NM_001372044.2	NP_001358973.1:p.(Gly1730AlafsTer28)	NC_000022.10:g.51169506del	VUS	1 lab	6b085560fa
7:150439554 GIMAP5 G>C	7	150439554	150439554	G	C	GIMAP5	c.327G>C	NM_018384.5	NP_060854.2:p.(Pro109=)	NC_000007.13:g.150439554G>C	VUS	1 lab	6b0adc8044
6:24503641 ALDH5A1 G>A	6	24503641	24503641	G	A	ALDH5A1	c.589G>A	NM_170740.1	NP_733936.1:p.(Val197Met)	NC_000006.11:g.24503641G>A	(Likely) pathogenic	1 lab	6b0cd2e3c1
6:31975577 CYP21A1P T>C	6	31975577	31975577	T	C	CYP21A1P	n.1500T>C	NR_040090.1		NC_000006.11:g.31975577T>C	(Likely) benign	1 lab	6b0f1f40ee
11:6662162 DCHS1 T>C	11	6662162	6662162	T	C	DCHS1	c.683A>G	NM_003737.4	NP_003728.1:p.(Tyr228Cys)	NC_000011.9:g.6662162T>C	VUS	1 lab	6b17d1e17d
1:235922821 LYST G>T	1	235922821	235922821	G	T	LYST	c.6332C>A	NM_001301365.1	NP_001288294.1:p.(Thr2111Asn)	NC_000001.10:g.235922821G>T	VUS	1 lab	6b17f5a29b
1:53675923 CPT2 C>G	1	53675923	53675923	C	G	CPT2	c.577C>G	NM_000098.3	NP_000089.1:p.(Arg193Gly)	NC_000001.10:g.53675923C>G	VUS	1 lab	6b19176901
17:29685624 NF1 A>G	17	29685624	29685624	A	G	NF1	c.8034A>G	NM_000267.3	NP_000258.1:p.(Gln2678=)	NC_000017.10:g.29685624A>G	(Likely) benign	1 lab	6b20dbe253
18:29104522 DSG2 A>G	18	29104522	29104522	A	G	DSG2	c.802A>G	NM_001943.5	NP_001934.2:p.(Asn268Asp)	NC_000018.9:g.29104522A>G	VUS	1 lab	6b24d617fc
20:44520613 CTSA G>A	20	44520613	44520613	G	A	CTSA	c.253G>A	NM_001127695.2	NP_001121167.1:p.(Gly85Ser)	NC_000020.10:g.44520613G>A	(Likely) pathogenic	1 lab	6b27379492
16:78133671 WWOX C>T	16	78133671	78133671	C	T	WWOX	c.-5C>T	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78133671C>T	(Likely) benign	1 lab	6b2748154c
19:46914547 CCDC8 C>G	19	46914547	46914547	C	G	CCDC8	c.1521G>C	NM_032040.5	NP_114429.2:p.(Lys507Asn)	NC_000019.9:g.46914547C>G	(Likely) benign	1 lab	6b4edeb0f0
11:71146791 DHCR7 AC>A	11	71146791	71146794	AC	A	DHCR7	c.1057del	NM_001360.3	NP_001351.2:p.(Val353TrpfsTer60)	NC_000011.9:g.71146794del	(Likely) pathogenic	1 lab	6b2bcf79fc
9:130984784 DNM1 G>A	9	130984784	130984784	G	A	DNM1	c.1037G>A	NM_001288738.2	NP_001275667.1:p.(Gly346Asp)	NC_000009.11:g.130984784G>A	(Likely) pathogenic	1 lab	6b304efba4
X:153225785 HCFC1 C>G	X	153225785	153225785	C	G	HCFC1	c.985G>C	NM_005334.3	NP_005325.2:p.(Ala329Pro)	NC_000023.10:g.153225785C>G	VUS	1 lab	6b31b2a571
8:144997361 PLEC G>A	8	144997361	144997361	G	A	PLEC	c.6817C>T	NM_000445.5	NP_000436.2:p.(Arg2273Cys)	NC_000008.10:g.144997361G>A	VUS	1 lab	6b36c2976c
18:11867178 GNAL T>G	18	11867178	11867178	T	G	GNAL	c.863T>G	NM_182978.4	NP_892023.1:p.(Val288Gly)	NC_000018.9:g.11867178T>G	VUS	1 lab	6b37bb618e
7:121719708 AASS T>G	7	121719708	121719708	T	G	AASS	c.2339A>C	NM_005763.4	NP_005754.2:p.(Lys780Thr)	NC_000007.13:g.121719708T>G	VUS	1 lab	6b381028a3
17:41258501 BRCA1 GACACTGTGAAGGCCCTTTCTTCTGGTT>G	17	41258501	41258528	GACACTGTGAAGGCCCTTTCTTCTGGTT	G	BRCA1	c.157_183del	NM_007294.4	NP_009225.1:p.(Asn53_Cys61del)	NC_000017.10:g.41258502_41258528del	(Likely) pathogenic	1 lab	6b3e3b3528
18:19426901 MIB1 G>A	18	19426901	19426901	G	A	MIB1	c.2212-4G>A	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19426901G>A	(Likely) benign	1 lab	6b43a3c484
10:105799216 COL17A1 G>T	10	105799216	105799216	G	T	COL17A1	c.2883C>A	NM_000494.4	NP_000485.3:p.(Pro961=)	NC_000010.10:g.105799216G>T	(Likely) benign	1 lab	6b486c429a
9:138678177 KCNT1 G>A	9	138678177	138678177	G	A	KCNT1	c.3312G>A	NM_020822.3	NP_065873.2:p.(Leu1104=)	NC_000009.11:g.138678177G>A	(Likely) benign	1 lab	6b4fa5a1b9
1:226127564 LEFTY2 A>C	1	226127564	226127564	A	C	LEFTY2	c.389T>G	NM_003240.5	NP_003231.2:p.(Leu130Arg)	NC_000001.10:g.226127564A>C	VUS	1 lab	6b513ca9e6
1:17313000 ATP13A2 C>T	1	17313000	17313000	C	T	ATP13A2	c.3363G>A	NM_022089.4	NP_071372.1:p.(Leu1121=)	NC_000001.10:g.17313000C>T	(Likely) benign	1 lab	6b54067ad2
3:33065821 GLB1 T>C	3	33065821	33065821	T	C	GLB1	c.1069-4A>G	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33065821T>C	(Likely) benign	1 lab	6b57902bee
2:170097650 LRP2 T>A	2	170097650	170097650	T	A	LRP2	c.3893A>T	NM_004525.3	NP_004516.2:p.(Asp1298Val)	NC_000002.11:g.170097650T>A	VUS	1 lab	6b5cd3b354
2:233348181 ECEL1 C>T	2	233348181	233348181	C	T	ECEL1	c.1451G>A	NM_004826.4	NP_004817.2:p.(Arg484His)	NC_000002.11:g.233348181C>T	VUS	1 lab	6b612f1a47
15:43170690 TTBK2 T>TAC	15	43170690	43170726	T	TAC	TTBK2	c.69+55_69+56dup	NM_173500.4	NP_775771.3:p.?	NC_000015.9:g.43170725_43170726dup	(Likely) benign	1 lab	6b631c43e8
14:23887444 MYH7 G>A	14	23887444	23887444	G	A	MYH7	c.4144C>T	NM_000257.4	NP_000248.2:p.(Arg1382Trp)	NC_000014.8:g.23887444G>A	VUS	1 lab	6b64cf2c94
19:55526359 GP6 A>T	19	55526359	55526359	A	T	GP6	c.950T>A	NM_016363.5	NP_057447.5:p.(Leu317Gln)	NC_000019.9:g.55526359A>T	(Likely) benign	1 lab	6b65595760
5:61643941 KIF2A C>A	5	61643941	61643941	C	A	KIF2A	c.226C>A	NM_001098511.3	NP_001091981.1:p.(Pro76Thr)	NC_000005.9:g.61643941C>A	VUS	1 lab	6b6606954d
5:118845139 HSD17B4 G>A	5	118845139	118845139	G	A	HSD17B4	c.1512+200G>A	NM_001199291.3	NP_001186220.1:p.?	NC_000005.9:g.118845139G>A	(Likely) benign	1 lab	6b694c200d
1:43890511 SZT2 T>C	1	43890511	43890511	T	C	SZT2	c.2528T>C	NM_015284.4	NP_056099.3:p.(Met843Thr)	NC_000001.10:g.43890511T>C	VUS	1 lab	6b707a4c2e
6:7559484 DSP C>T	6	7559484	7559484	C	T	DSP	c.448C>T	NM_004415.4	NP_004406.2:p.(Arg150Ter)	NC_000006.11:g.7559484C>T	(Likely) pathogenic	1 lab	6b7a5b3aa4
3:38595967 SCN5A C>T	3	38595967	38595967	C	T	SCN5A	c.4616G>A	NM_198056.3	NP_932173.1:p.(Cys1539Tyr)	NC_000003.11:g.38595967C>T	VUS	1 lab	6b7f7c8cdc
8:72127617 EYA1 C>G	8	72127617	72127617	C	G	EYA1	c.1597+5G>C	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72127617C>G	VUS	1 lab	6b87827f82
17:41243533 BRCA1 C>T	17	41243533	41243533	C	T	BRCA1	c.4015G>A	NM_007294.4	NP_009225.1:p.(Glu1339Lys)	NC_000017.10:g.41243533C>T	(Likely) benign	1 lab	6b89cf6bdc
22:29534609 KREMEN1 C>T	22	29534609	29534609	C	T	KREMEN1	c.965-3C>T	NM_032045.5	NP_114434.3:p.?	NC_000022.10:g.29534609C>T	(Likely) benign	1 lab	6b8eb48f35
2:179419479 TTN T>C	2	179419479	179419479	T	C	TTN	c.88595A>G	NM_001267550.2	NP_001254479.2:p.(Asp29532Gly)	NC_000002.11:g.179419479T>C	VUS	1 lab	6b92fc7a29
7:92733358 SAMD9 G>A	7	92733358	92733358	G	A	SAMD9	c.2053C>T	NM_017654.4	NP_060124.2:p.(Arg685Ter)	NC_000007.13:g.92733358G>A	VUS	1 lab	6b936b0148
1:160313200 NCSTN G>C	1	160313200	160313200	G	C	NCSTN	c.14G>C	NM_015331.3	NP_056146.1:p.(Gly5Ala)	NC_000001.10:g.160313200G>C	(Likely) benign	1 lab	6b93ff53bb
2:179451493 TTN T>C	2	179451493	179451493	T	C	TTN	c.64135A>G	NM_001267550.2	NP_001254479.2:p.(Thr21379Ala)	NC_000002.11:g.179451493T>C	VUS	1 lab	6b9680e497
8:38283643 FGFR1 C>T	8	38283643	38283643	C	T	FGFR1	c.742G>A	NM_023110.3	NP_075598.2:p.(Val248Met)	NC_000008.10:g.38283643C>T	(Likely) benign	1 lab	6b98338d6d
6:157099408 ARID1B GCAGCAGCAGCAGCAGCAA>G	6	157099408	157099443	GCAGCAGCAGCAGCAGCAA	G	ARID1B	c.612_629del	NM_001371656.1	NP_001358585.1:p.(Gln209_Gln214del)	NC_000006.11:g.157099426_157099443del	VUS	1 lab	6b985d11c3
16:31195628 FUS A>G	16	31195628	31195628	A	G	FUS	c.434A>G	NM_004960.4	NP_004951.1:p.(Gln145Arg)	NC_000016.9:g.31195628A>G	VUS	1 lab	6b988881ac
4:111539809 PITX2 C>CT	4	111539809	111539812	C	CT	PITX2	c.287dup	NM_153427.3	NP_700476.1:p.(Arg97GlufsTer102)	NC_000004.11:g.111539812dup	(Likely) pathogenic	1 lab	6b9ae97b2b
7:104716497 KMT2E G>A	7	104716497	104716497	G	A	KMT2E	c.737G>A	NM_182931.3	NP_891847.1:p.(Arg246His)	NC_000007.13:g.104716497G>A	VUS	1 lab	6ba0043382
X:119005306 RNF113A TTTCCTC>T	X	119005306	119005321	TTTCCTC	T	RNF113A	c.265_270del	NM_006978.3	NP_008909.1:p.(Glu89_Glu90del)	NC_000023.10:g.119005316_119005321del	VUS	1 lab	6ba11c5399
X:153297742 MECP2 G>C	X	153297742	153297742	G	C	MECP2	c.293C>G	NM_004992.4	NP_004983.1:p.(Pro98Arg)	NC_000023.10:g.153297742G>C	VUS	1 lab	6ba174b882
6:29634012 MOG A>G	6	29634012	29634012	A	G	MOG	c.520A>G	NM_206809.4	NP_996532.2:p.(Ile174Val)	NC_000006.11:g.29634012A>G	(Likely) benign	1 lab	6ba7f39de2
14:24724728 TGM1 G>A	14	24724728	24724728	G	A	TGM1	c.1492-5C>T	NM_000359.3	NP_000350.1:p.?	NC_000014.8:g.24724728G>A	(Likely) benign	1 lab	6ba9a2e106
9:101507866 ANKS6 G>A	9	101507866	101507866	G	A	ANKS6	c.2486C>T	NM_173551.5	NP_775822.3:p.(Ala829Val)	NC_000009.11:g.101507866G>A	VUS	1 lab	6babef291f
22:19968971 ARVCF G>A	22	19968971	19968971	G	A	ARVCF	c.659C>T	NM_001670.3	NP_001661.1:p.(Pro220Leu)	NC_000022.10:g.19968971G>A	(Likely) benign	1 lab	6bb1806540
15:28377827 HERC2 T>C	15	28377827	28377827	T	C	HERC2	c.12380A>G	NM_004667.6	NP_004658.3:p.(Asp4127Gly)	NC_000015.9:g.28377827T>C	VUS	1 lab	6bb2b4ffd2
6:7231220 RREB1 C>T	6	7231220	7231220	C	T	RREB1	c.2888C>T	NM_001003699.4	NP_001003699.1:p.(Ala963Val)	NC_000006.11:g.7231220C>T	VUS	1 lab	6bb56c0ea9
2:163174429 IFIH1 A>G	2	163174429	163174429	A	G	IFIH1	c.389T>C	NM_022168.4	NP_071451.2:p.(Leu130Pro)	NC_000002.11:g.163174429A>G	VUS	1 lab	6bb8c8add2
X:79990696 BRWD3 T>C	X	79990696	79990696	T	C	BRWD3	c.915A>G	NM_153252.5	NP_694984.5:p.(Arg305=)	NC_000023.10:g.79990696T>C	(Likely) benign	1 lab	6bb92491fe
7:100218714 TFR2 T>C	7	100218714	100218714	T	C	TFR2	c.2172A>G	NM_003227.4	NP_003218.2:p.(Pro724=)	NC_000007.13:g.100218714T>C	(Likely) benign	1 lab	6bb98d5d0e
12:6697549 CHD4 C>T	12	6697549	6697549	C	T	CHD4	c.3380G>A	NM_001273.5	NP_001264.2:p.(Arg1127Gln)	NC_000012.11:g.6697549C>T	(Likely) pathogenic	1 lab	6bba1a3fe0
12:70729220 CNOT2 G>A	12	70729220	70729220	G	A	CNOT2	c.652G>A	NM_001199303.2	NP_001186232.1:p.(Gly218Arg)	NC_000012.11:g.70729220G>A	VUS	1 lab	6bc116d100
7:40027596 CDK13 C>T	7	40027596	40027596	C	T	CDK13	c.1610C>T	NM_003718.5	NP_003709.3:p.(Ala537Val)	NC_000007.13:g.40027596C>T	VUS	1 lab	6bc168c583
19:4817924 TICAM1 G>A	19	4817924	4817924	G	A	TICAM1	c.466C>T	NM_182919.4	NP_891549.1:p.(Arg156Trp)	NC_000019.9:g.4817924G>A	VUS	1 lab	6bce5f9689
9:136291063 ADAMTS13 C>T	9	136291063	136291063	C	T	ADAMTS13	c.420=	NM_139025.5	NP_620594.1:p.(Ala140=)	NC_000009.11:g.136291063C>T	(Likely) benign	1 lab	6bce8557ab
1:98039438 DPYD A>G	1	98039438	98039438	A	G	DPYD	c.1217T>C	NM_000110.4	NP_000101.2:p.(Met406Thr)	NC_000001.10:g.98039438A>G	VUS	1 lab	6bd238af3f
12:56558318 SMARCC2 G>C	12	56558318	56558318	G	C	SMARCC2	c.3337C>G	NM_003075.5	NP_003066.2:p.(Pro1113Ala)	NC_000012.11:g.56558318G>C	(Likely) benign	1 lab	6bd25f4cff
19:38976295 RYR1 G>A	19	38976295	38976295	G	A	RYR1	c.5000G>A	NM_000540.3	NP_000531.2:p.(Arg1667His)	NC_000019.9:g.38976295G>A	VUS	1 lab	6bd4adf009
16:70708214 MTSS2 T>C	16	70708214	70708214	T	C	MTSS2	c.1048A>G	NM_138383.3	NP_612392.1:p.(Ser350Gly)	NC_000016.9:g.70708214T>C	VUS	1 lab	6bd847b408
1:94474413 ABCA4 G>A	1	94474413	94474413	G	A	ABCA4	c.5729C>T	NM_000350.3	NP_000341.2:p.(Thr1910Ile)	NC_000001.10:g.94474413G>A	VUS	1 lab	6bdb3b3da0
19:17778943 UNC13A T>G	19	17778943	17778943	T	G	UNC13A	c.451A>C	NM_001080421.3	NP_001073890.2:p.(Met151Leu)	NC_000019.9:g.17778943T>G	VUS	1 lab	6bdde5c7dd
15:73624637 HCN4 C>T	15	73624637	73624637	C	T	HCN4	c.1210-4G>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73624637C>T	(Likely) benign	1 lab	6be279d7ec
2:84831652 DNAH6 G>GC	2	84831652	84831654	G	GC	DNAH6	c.3060dup	NM_001370.2	NP_001361.1:p.(Glu1022ArgfsTer5)	NC_000002.11:g.84831654dup	VUS	1 lab	6be2c14e5d
2:209191099 PIKFYVE T>C	2	209191099	209191099	T	C	PIKFYVE	c.3564T>C	NM_015040.4	NP_055855.2:p.(Asn1188=)	NC_000002.11:g.209191099T>C	(Likely) benign	1 lab	6be82fc1d2
22:19907140 TXNRD2 GC>G	22	19907140	19907141	GC	G	TXNRD2	c.173-19del	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19907141del	(Likely) benign	1 lab	6be95c3718
3:10088376 FANCD2 T>C	3	10088376	10088376	T	C	FANCD2	c.1247T>C	NM_033084.6	NP_149075.2:p.(Leu416Pro)	NC_000003.11:g.10088376T>C	VUS	1 lab	6bec701b5a
X:41055878 USP9X G>A	X	41055878	41055878	G	A	USP9X	c.4120G>A	NM_001039590.3	NP_001034679.2:p.(Asp1374Asn)	NC_000023.10:g.41055878G>A	VUS	1 lab	6bf047e14c
3:119134455 ARHGAP31 C>G	3	119134455	119134455	C	G	ARHGAP31	c.3679C>G	NM_020754.4	NP_065805.2:p.(Gln1227Glu)	NC_000003.11:g.119134455C>G	VUS	1 lab	6bf1a320a0
1:987189 AGRN C>T	1	987189	987189	C	T	AGRN	c.5645C>T	NM_198576.4	NP_940978.2:p.(Thr1882Ile)	NC_000001.10:g.987189C>T	VUS	1 lab	6bf4be32c8
17:36891519 PCGF2 C>T	17	36891519	36891519	C	T	PCGF2	c.992G>A	NM_007144.3	NP_009075.1:p.(Arg331His)	NC_000017.10:g.36891519C>T	(Likely) benign	1 lab	6bf6287ae3
9:2077714 SMARCA2 A>G	9	2077714	2077714	A	G	SMARCA2	c.2122A>G	NM_003070.5	NP_003061.3:p.(Ile708Val)	NC_000009.11:g.2077714A>G	VUS	1 lab	6bf8f2e576
18:34289276 FHOD3 GCCTCCAGCGTCTCGT>G	18	34289276	34289299	GCCTCCAGCGTCTCGT	G	FHOD3	c.1939_1953del	NM_025135.5	NP_079411.2:p.(Val647_Ser651del)	NC_000018.9:g.34289285_34289299del	VUS	1 lab	6bfbf35ce2
17:73830509 UNC13D A>G	17	73830509	73830509	A	G	UNC13D	c.2195T>C	NM_199242.3	NP_954712.1:p.(Leu732Pro)	NC_000017.10:g.73830509A>G	VUS	1 lab	6c01de27e3
9:131670449 LRRC8A T>G	9	131670449	131670449	T	G	LRRC8A	c.1006T>G	NM_019594.4	NP_062540.2:p.(Cys336Gly)	NC_000009.11:g.131670449T>G	VUS	1 lab	6c0643d0c3
11:62284878 AHNAK G>A	11	62284878	62284878	G	A	AHNAK	c.17011C>T	NM_001620.3	NP_001611.1:p.(Arg5671Cys)	NC_000011.9:g.62284878G>A	VUS	1 lab	6c084ba016
X:49071664 CACNA1F C>T	X	49071664	49071664	C	T	CACNA1F	c.3512G>A	NM_005183.4	NP_005174.2:p.(Arg1171His)	NC_000023.10:g.49071664C>T	VUS	1 lab	6c08f569dc
2:179482120 TTN G>A	2	179482120	179482120	G	A	TTN	c.47692C>T	NM_001267550.2	NP_001254479.2:p.(Arg15898Ter)	NC_000002.11:g.179482120G>A	(Likely) pathogenic	1 lab	6c09848195
1:22852715 ZBTB40 G>C	1	22852715	22852715	G	C	ZBTB40	c.3546G>C	NM_001083621.2	NP_001077090.1:p.(Pro1182=)	NC_000001.10:g.22852715G>C	(Likely) benign	1 lab	6c0ba1f7c4
14:91773549 CCDC88C G>A	14	91773549	91773549	G	A	CCDC88C	c.3028C>T	NM_001080414.4	NP_001073883.2:p.(Leu1010Phe)	NC_000014.8:g.91773549G>A	VUS	1 lab	6c137caefa
13:32969024 BRCA2 AG>A	13	32969024	32969027	AG	A	BRCA2	c.9458del	NM_000059.4	NP_000050.3:p.(Gly3153AlafsTer10)	NC_000013.10:g.32969027del	(Likely) pathogenic	1 lab	6c22e1152c
11:108389000 EXPH5 G>A	11	108389000	108389000	G	A	EXPH5	c.593C>T	NM_015065.3	NP_055880.2:p.(Pro198Leu)	NC_000011.9:g.108389000G>A	VUS	1 lab	6c2612c643
1:109793972 CELSR2 C>T	1	109793972	109793972	C	T	CELSR2	c.1271C>T	NM_001408.3	NP_001399.1:p.(Ser424Leu)	NC_000001.10:g.109793972C>T	VUS	1 lab	6c26758c13
16:29824383 PRRT2 C>G	16	29824383	29824383	C	G	PRRT2	c.8C>G	NM_145239.3	NP_660282.2:p.(Ala3Gly)	NC_000016.9:g.29824383C>G	VUS	1 lab	6c2ebfa67d
18:42531391 SETBP1 CCA>C	18	42531391	42531393	CCA	C	SETBP1	c.2087_2088del	NM_015559.3	NP_056374.2:p.(Pro696ArgfsTer10)	NC_000018.9:g.42531392_42531393del	(Likely) pathogenic	1 lab	6c370dbd62
3:69988340 MITF A>G	3	69988340	69988340	A	G	MITF	c.666+8A>G	NM_198159.3	NP_937802.1:p.?	NC_000003.11:g.69988340A>G	(Likely) benign	1 lab	6c374b64fc
2:179440748 TTN G>T	2	179440748	179440748	G	T	TTN	c.70111C>A	NM_001267550.2	NP_001254479.2:p.(Arg23371Ser)	NC_000002.11:g.179440748G>T	VUS	1 lab	6c39c180dd
15:63356129 TPM1 G>A	15	63356129	63356129	G	A	TPM1	c.773-134G>A	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63356129G>A	VUS	1 lab	6c3d742bf4
11:68527074 CPT1A T>C	11	68527074	68527074	T	C	CPT1A	c.2198A>G	NM_001876.4	NP_001867.2:p.(Asn733Ser)	NC_000011.9:g.68527074T>C	(Likely) benign	1 lab	6c410fb4e8
20:60903939 LAMA5 G>A	20	60903939	60903939	G	A	LAMA5	c.4408C>T	NM_005560.6	NP_005551.3:p.(Arg1470Cys)	NC_000020.10:g.60903939G>A	VUS	1 lab	6c42ea31a8
13:20796930 GJB6 A>AT	13	20796930	20796937	A	AT	GJB6	c.689dup	NM_006783.4	NP_006774.2:p.(Asn230LysfsTer11)	NC_000013.10:g.20796937dup	VUS	1 lab	6c45a15b7a
2:169791908 ABCB11 G>A	2	169791908	169791908	G	A	ABCB11	c.2842C>T	NM_003742.4	NP_003733.2:p.(Arg948Cys)	NC_000002.11:g.169791908G>A	(Likely) pathogenic	1 lab	6c5201fa28
X:44919390 KDM6A A>G	X	44919390	44919390	A	G	KDM6A	c.1318A>G	NM_021140.4	NP_066963.2:p.(Thr440Ala)	NC_000023.10:g.44919390A>G	VUS	1 lab	6c52a2d76b
1:149898400 SF3B4 C>T	1	149898400	149898400	C	T	SF3B4	c.574G>A	NM_005850.5	NP_005841.1:p.(Glu192Lys)	NC_000001.10:g.149898400C>T	VUS	1 lab	6c5a30c828
X:25031342 ARX C>G	X	25031342	25031342	C	G	ARX	c.770G>C	NM_139058.3	NP_620689.1:p.(Arg257Pro)	NC_000023.10:g.25031342C>G	VUS	1 lab	6c622ff5f0
17:1631721 WDR81 G>T	17	1631721	1631721	G	T	WDR81	c.3468G>T	NM_001163809.2	NP_001157281.1:p.(Glu1156Asp)	NC_000017.10:g.1631721G>T	VUS	1 lab	6c6476fe70
16:70852297 HYDIN C>T	16	70852297	70852297	C	T	HYDIN	c.14606G>A	NM_001270974.2	NP_001257903.1:p.(Arg4869Gln)	NC_000016.9:g.70852297C>T	VUS	1 lab	6c66cec055
X:19364725 PDHA1 C>G	X	19364725	19364725	C	G	PDHA1	c.57+2513C>G	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19364725C>G	VUS	1 lab	6c6d15d69c
15:85401123 ALPK3 C>T	15	85401123	85401123	C	T	ALPK3	c.3154C>T	NM_020778.5	NP_065829.4:p.(Arg1052Cys)	NC_000015.9:g.85401123C>T	VUS	1 lab	6c6da5203a
22:19864628 TXNRD2 T>G	22	19864628	19864628	T	G	TXNRD2	c.1575A>C	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19864628T>G	VUS	1 lab	6c6daaef22
11:20658776 SLC6A5 G>T	11	20658776	20658776	G	T	SLC6A5	c.1796G>T	NM_004211.5	NP_004202.4:p.(Arg599Leu)	NC_000011.9:g.20658776G>T	VUS	1 lab	6c6f6efa07
1:16357001 CLCNKA C>T	1	16357001	16357001	C	T	CLCNKA	c.1454C>T	NM_004070.4	NP_004061.3:p.(Ala485Val)	NC_000001.10:g.16357001C>T	VUS	1 lab	6c7689eef7
18:42531752 SETBP1 C>A	18	42531752	42531752	C	A	SETBP1	c.2447C>A	NM_015559.3	NP_056374.2:p.(Thr816Asn)	NC_000018.9:g.42531752C>A	VUS	1 lab	6c78273065
16:31286900 ITGAM C>T	16	31286900	31286900	C	T	ITGAM	c.889C>T	NM_001145808.2	NP_001139280.1:p.(Arg297Cys)	NC_000016.9:g.31286900C>T	VUS	1 lab	6c7df792e1
6:43555068 POLH G>A	6	43555068	43555068	G	A	POLH	c.332G>A	NM_006502.3	NP_006493.1:p.(Arg111His)	NC_000006.11:g.43555068G>A	(Likely) pathogenic	1 lab	6c7ef1b044
17:41243848 BRCA1 CT>C	17	41243848	41243851	CT	C	BRCA1	c.3699del	NM_007294.4	NP_009225.1:p.(Val1234Ter)	NC_000017.10:g.41243851del	(Likely) pathogenic	1 lab	6c7ef8b222
16:67201726 HSF4 G>GC	16	67201726	67201733	G	GC	HSF4	c.875dup	NM_001538.4	NP_001529.2:p.(Pro293AlafsTer29)	NC_000016.9:g.67201733dup	(Likely) pathogenic	1 lab	6c7f1f507e
12:49440414 KMT2D T>TG	12	49440414	49440418	T	TG	KMT2D	c.4395dup	NM_003482.4	NP_003473.3:p.(Lys1466GlnfsTer25)	NC_000012.11:g.49440418dup	(Likely) pathogenic	1 lab	6c84b9c784
15:28459392 HERC2 G>A	15	28459392	28459392	G	A	HERC2	c.6385C>T	NM_004667.6	NP_004658.3:p.(Arg2129Cys)	NC_000015.9:g.28459392G>A	VUS	1 lab	6c8748fc96
20:23028373 THBD ACAGGCTCCTGGACGGAGC>A	20	23028373	23028408	ACAGGCTCCTGGACGGAGC	A	THBD	c.*23_*40del	NM_000361.3	NP_000352.1:p.?	NC_000020.10:g.23028391_23028408del	(Likely) benign	1 lab	6c89dfd5f2
2:183850924 NCKAP1 A>G	2	183850924	183850924	A	G	NCKAP1	c.997T>C	NM_205842.3	NP_995314.1:p.(Cys333Arg)	NC_000002.11:g.183850924A>G	VUS	1 lab	6c8aaf05b2
22:40815063 MRTFA C>T	22	40815063	40815063	C	T	MRTFA	c.1679G>A	NM_020831.6	NP_065882.2:p.(Arg560His)	NC_000022.10:g.40815063C>T	VUS	1 lab	6c8f9b5d87
X:107863456 COL4A5 A>G	X	107863456	107863456	A	G	COL4A5	c.2510-33A>G	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107863456A>G	(Likely) benign	1 lab	6c9625f075
12:105550543 WASHC4 G>A	12	105550543	105550543	G	A	WASHC4	c.2801G>A	NM_001293640.2	NP_001280569.1:p.(Gly934Asp)	NC_000012.11:g.105550543G>A	VUS	1 lab	6c963018c1
9:14307912 NFIB G>C	9	14307912	14307912	G	C	NFIB	c.10C>G	NM_001369474.1	NP_001356403.1:p.(His4Asp)	NC_000009.11:g.14307912G>C	VUS	1 lab	6c96a0bd09
14:102510671 DYNC1H1 C>G	14	102510671	102510671	C	G	DYNC1H1	c.12745C>G	NM_001376.5	NP_001367.2:p.(Gln4249Glu)	NC_000014.8:g.102510671C>G	(Likely) benign	1 lab	6c96b168c5
2:166170255 SCN2A A>G	2	166170255	166170255	A	G	SCN2A	c.1160A>G	NM_021007.3	NP_066287.2:p.(Glu387Gly)	NC_000002.11:g.166170255A>G	(Likely) pathogenic	1 lab	6ca05077d2
18:55998103 NEDD4L A>G	18	55998103	55998103	A	G	NEDD4L	c.947A>G	NM_015277.6	NP_056092.2:p.(Gln316Arg)	NC_000018.9:g.55998103A>G	VUS	1 lab	6ca7412a45
7:33297002 BBS9 C>A	7	33297002	33297002	C	A	BBS9	c.324C>A	NM_001348038.3	NP_001334967.1:p.(Cys108Ter)	NC_000007.13:g.33297002C>A	(Likely) pathogenic	1 lab	6ca893ab62
10:90974712 LIPA G>C	10	90974712	90974712	G	C	LIPA	c.1073C>G	NM_000235.4	NP_000226.2:p.(Thr358Ser)	NC_000010.10:g.90974712G>C	VUS	1 lab	6cad95f6a2
4:190874291 FRG1 G>A	4	190874291	190874291	G	A	FRG1	c.317+11G>A	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190874291G>A	(Likely) benign	1 lab	6cb145c8fe
15:50904947 TRPM7 C>T	15	50904947	50904947	C	T	TRPM7	c.1850G>A	NM_017672.6	NP_060142.3:p.(Arg617His)	NC_000015.9:g.50904947C>T	VUS	1 lab	6cb8abe9af
16:58583783 CNOT1 G>A	16	58583783	58583783	G	A	CNOT1	c.3347C>T	NM_001265612.2	NP_001252541.1:p.(Thr1116Met)	NC_000016.9:g.58583783G>A	VUS	1 lab	6cb9ca440a
7:150707837 NOS3 C>T	7	150707837	150707837	C	T	NOS3	c.2838C>T	NM_000603.5	NP_000594.2:p.(Pro946=)	NC_000007.13:g.150707837C>T	(Likely) benign	1 lab	6cbc24b862
18:3452221 TGIF1 CCT>C	18	3452221	3452224	CCT	C	TGIF1	c.-202_-201del	NM_170695.5	NP_733796.3:p.?	NC_000018.9:g.3452223_3452224del	(Likely) benign	1 lab	6cbcc9794d
10:68381536 CTNNA3 T>A	10	68381536	68381536	T	A	CTNNA3	c.1288A>T	NM_013266.4	NP_037398.2:p.(Asn430Tyr)	NC_000010.10:g.68381536T>A	VUS	1 lab	6cbdc22946
7:42006244 GLI3 A>T	7	42006244	42006244	A	T	GLI3	c.2432-5T>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42006244A>T	(Likely) benign	1 lab	6cbffe2815
22:37271882 NCF4 T>C	22	37271882	37271882	T	C	NCF4	c.815T>C	NM_013416.4	NP_038202.2:p.(Leu272Pro)	NC_000022.10:g.37271882T>C	(Likely) benign	1 lab	6cc1f5494d
3:119121136 ARHGAP31 C>T	3	119121136	119121136	C	T	ARHGAP31	c.1537C>T	NM_020754.4	NP_065805.2:p.(Pro513Ser)	NC_000003.11:g.119121136C>T	(Likely) benign	1 lab	6cc4f0a3db
10:94825766 CYP26C1 C>A	10	94825766	94825766	C	A	CYP26C1	c.915C>A	NM_183374.3	NP_899230.2:p.(Ser305Arg)	NC_000010.10:g.94825766C>A	VUS	1 lab	6ccd711a77
1:160261619 COPA C>A	1	160261619	160261619	C	A	COPA	c.3248G>T	NM_004371.4	NP_004362.2:p.(Arg1083Leu)	NC_000001.10:g.160261619C>A	VUS	1 lab	6ccd879d02
X:595470 SHOX TC>T	X	595470	595471	TC	T	SHOX	c.396del	NM_000451.3	NP_000442.1:p.(Glu133SerfsTer59)	NC_000023.10:g.595471del	(Likely) pathogenic	1 lab	6cd6460689
2:238296245 COL6A3 G>A	2	238296245	238296245	G	A	COL6A3	c.1292C>T	NM_004369.4	NP_004360.2:p.(Pro431Leu)	NC_000002.11:g.238296245G>A	VUS	1 lab	6cd768c9ac
10:75857536 VCL C>T	10	75857536	75857536	C	T	VCL	c.1872+446C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75857536C>T	(Likely) benign	1 lab	6cd773e8d8
19:11094960 SMARCA4 C>T	19	11094960	11094960	C	T	SMARCA4	c.133C>T	NM_001128849.3	NP_001122321.1:p.(Pro45Ser)	NC_000019.9:g.11094960C>T	VUS	1 lab	6cd806a550
9:138606586 KCNT1 T>G	9	138606586	138606586	T	G	KCNT1	c.254+20T>G	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138606586T>G	(Likely) benign	1 lab	6cda7ac725
1:237024416 MTR C>T	1	237024416	237024416	C	T	MTR	c.2044-9C>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237024416C>T	(Likely) benign	1 lab	6cde6bdeec
13:32785086 FRY G>A	13	32785086	32785086	G	A	FRY	c.4506G>A	NM_023037.3	NP_075463.2:p.(Glu1502=)	NC_000013.10:g.32785086G>A	(Likely) benign	1 lab	6ce3121752
17:66521074 PRKAR1A A>G	17	66521074	66521074	A	G	PRKAR1A	c.524A>G	NM_002734.5	NP_002725.1:p.(Tyr175Cys)	NC_000017.10:g.66521074A>G	(Likely) pathogenic	1 lab	6ce3c68024
7:100284624 GIGYF1 C>T	7	100284624	100284624	C	T	GIGYF1	c.523+5G>A	NM_001375765.1	NP_001362694.1:p.?	NC_000007.13:g.100284624C>T	VUS	1 lab	6ce956234b
8:100844837 VPS13B G>A	8	100844837	100844837	G	A	VPS13B	c.9646G>A	NM_017890.5	NP_060360.3:p.(Ala3216Thr)	NC_000008.10:g.100844837G>A	VUS	1 lab	6cec061258
8:61736558 CHD7 C>T	8	61736558	61736558	C	T	CHD7	c.3361C>T	NM_017780.4	NP_060250.2:p.(Leu1121Phe)	NC_000008.10:g.61736558C>T	VUS	1 lab	6cec163bea
10:16979661 CUBN T>C	10	16979661	16979661	T	C	CUBN	c.5856A>G	NM_001081.4	NP_001072.2:p.(Ser1952=)	NC_000010.10:g.16979661T>C	(Likely) benign	1 lab	6ceca7b9d9
X:46618252 SLC9A7 G>A	X	46618252	46618252	G	A	SLC9A7	c.213C>T	NM_032591.3	NP_115980.1:p.(Ser71=)	NC_000023.10:g.46618252G>A	(Likely) benign	1 lab	6cf6f8a042
16:89351218 ANKRD11 C>CA	16	89351218	89351219	C	CA	ANKRD11	c.1731dup	NM_013275.6	NP_037407.4:p.(Asp578Ter)	NC_000016.9:g.89351219dup	(Likely) pathogenic	1 lab	6cf78d7e37
3:41275776 CTNNB1 G>A	3	41275776	41275776	G	A	CTNNB1	c.1671G>A	NM_001904.4	NP_001895.1:p.(Gln557=)	NC_000003.11:g.41275776G>A	(Likely) benign	1 lab	6cf95b51aa
12:52910544 KRT5 AG>A	12	52910544	52910547	AG	A	KRT5	c.1315del	NM_000424.4	NP_000415.2:p.(Leu439CysfsTer19)	NC_000012.11:g.52910547del	(Likely) pathogenic	1 lab	6cfef6c590
19:44031324 ETHE1 C>T	19	44031324	44031324	C	T	ETHE1	c.6G>A	NM_014297.5	NP_055112.2:p.(Ala2=)	NC_000019.9:g.44031324C>T	(Likely) benign	1 lab	6d051c5d6a
10:105798171 COL17A1 G>C	10	105798171	105798171	G	C	COL17A1	c.3063C>G	NM_000494.4	NP_000485.3:p.(Tyr1021Ter)	NC_000010.10:g.105798171G>C	(Likely) pathogenic	1 lab	6d08d8e481
11:108224528 ATM C>T	11	108224528	108224528	C	T	ATM	c.8707C>T	NM_000051.4	NP_000042.3:p.(Pro2903Ser)	NC_000011.9:g.108224528C>T	VUS	1 lab	6d0b0c908c
5:127674654 FBN2 C>G	5	127674654	127674654	C	G	FBN2	c.3443G>C	NM_001999.4	NP_001990.2:p.(Ser1148Thr)	NC_000005.9:g.127674654C>G	VUS	1 lab	6d107cffad
6:7247324 RREB1 CAAGAAACCA>C	6	7247324	7247337	CAAGAAACCA	C	RREB1	c.4646_4654del	NM_001003699.4	NP_001003699.1:p.(Lys1549_Lys1551del)	NC_000006.11:g.7247329_7247337del	VUS	1 lab	6d127221fb
19:47424102 ARHGAP35 A>G	19	47424102	47424102	A	G	ARHGAP35	c.2170A>G	NM_004491.5	NP_004482.4:p.(Ile724Val)	NC_000019.9:g.47424102A>G	VUS	1 lab	6d12f52129
1:235634244 B3GALNT2 GGCTCTCCC>G	1	235634244	235634252	GGCTCTCCC	G	B3GALNT2	c.674_681del	NM_152490.5	NP_689703.1:p.(Trp225SerfsTer18)	NC_000001.10:g.235634245_235634252del	(Likely) pathogenic	1 lab	6d14d54576
19:11557155 PRKCSH C>T	19	11557155	11557155	C	T	PRKCSH	c.752C>T	NM_002743.3	NP_002734.2:p.(Ala251Val)	NC_000019.9:g.11557155C>T	(Likely) benign	1 lab	6d19099524
11:71155068 DHCR7 G>A	11	71155068	71155068	G	A	DHCR7	c.292C>T	NM_001360.3	NP_001351.2:p.(Gln98Ter)	NC_000011.9:g.71155068G>A	(Likely) pathogenic	1 lab	6d1cfde879
21:36206703 RUNX1 T>A	21	36206703	36206703	T	A	RUNX1	c.805+4A>T	NM_001754.5	NP_001745.2:p.?	NC_000021.8:g.36206703T>A	VUS	1 lab	6d2d0bc5ae
9:71843023 TJP2 C>A	9	71843023	71843023	C	A	TJP2	c.1446C>A	NM_004817.4	NP_004808.2:p.(Asp482Glu)	NC_000009.11:g.71843023C>A	(Likely) benign	1 lab	6d3141f5a5
11:2924610 SLC67A1 G>A	11	2924610	2924610	G	A	SLC67A1	c.290G>A	NM_001315501.2	NP_001302430.1:p.(Arg97Gln)	NC_000011.9:g.2924610G>A	(Likely) benign	1 lab	6d329085ad
3:176771635 TBL1XR1 C>T	3	176771635	176771635	C	T	TBL1XR1	c.130G>A	NM_024665.7	NP_078941.2:p.(Val44Ile)	NC_000003.11:g.176771635C>T	VUS	1 lab	6d34e0dc8e
5:177421189 PROP1 G>T	5	177421189	177421189	G	T	PROP1	c.260C>A	NM_006261.5	NP_006252.4:p.(Ala87Asp)	NC_000005.9:g.177421189G>T	VUS	1 lab	6d3756cddc
13:103527930 ERCC5 G>C	13	103527930	103527930	G	C	ERCC5	c.3238G>C	NM_000123.4	NP_000114.3:p.(Gly1080Arg)	NC_000013.10:g.103527930G>C	(Likely) benign	1 lab	6d3f92fefd
6:157495219 ARID1B G>T	6	157495219	157495219	G	T	ARID1B	c.3352G>T	NM_001371656.1	NP_001358585.1:p.(Glu1118Ter)	NC_000006.11:g.157495219G>T	(Likely) pathogenic	1 lab	6d41cd454e
X:122460069 GRIA3 G>A	X	122460069	122460069	G	A	GRIA3	c.696+5G>A	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122460069G>A	(Likely) benign	1 lab	6d425b74f5
12:32974421 PKP2 TG>T	12	32974421	32974425	TG	T	PKP2	c.2013del	NM_004572.4	NP_004563.2:p.(Lys672ArgfsTer12)	NC_000012.11:g.32974425del	(Likely) pathogenic	1 lab	6d467f4426
6:56468238 DST G>A	6	56468238	56468238	G	A	DST	c.5185-3219C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56468238G>A	(Likely) benign	1 lab	6d4b9d5129
15:93510603 CHD2 A>G	15	93510603	93510603	A	G	CHD2	c.2049A>G	NM_001271.4	NP_001262.3:p.(Glu683=)	NC_000015.9:g.93510603A>G	(Likely) benign	1 lab	6d4d43df64
21:47541537 COL6A2 G>A	21	47541537	47541537	G	A	COL6A2	c.1521+5G>A	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47541537G>A	(Likely) benign	1 lab	6d4d8f2d2a
2:179654821 TTN T>C	2	179654821	179654821	T	C	TTN	c.1822A>G	NM_001267550.2	NP_001254479.2:p.(Thr608Ala)	NC_000002.11:g.179654821T>C	VUS	1 lab	6d51375393
X:153296013 MECP2 GCCT>G	X	153296013	153296020	GCCT	G	MECP2	c.1263_1265del	NM_004992.4	NP_004983.1:p.(Gly422del)	NC_000023.10:g.153296018_153296020del	VUS	1 lab	6d57ac214a
19:42482320 ATP1A3 G>A	19	42482320	42482320	G	A	ATP1A3	c.1789C>T	NM_152296.5	NP_689509.1:p.(Arg597Cys)	NC_000019.9:g.42482320G>A	VUS	1 lab	6d5825119a
1:237811744 RYR2 A>T	1	237811744	237811744	A	T	RYR2	c.7343A>T	NM_001035.3	NP_001026.2:p.(Asp2448Val)	NC_000001.10:g.237811744A>T	VUS	1 lab	6d5d590154
7:128637465 TNPO3 T>C	7	128637465	128637465	T	C	TNPO3	c.1136A>G	NM_012470.4	NP_036602.1:p.(His379Arg)	NC_000007.13:g.128637465T>C	VUS	1 lab	6d5e40ef0e
3:123033077 ADCY5 C>G	3	123033077	123033077	C	G	ADCY5	c.2442+5G>C	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123033077C>G	(Likely) benign	1 lab	6d5e428c21
11:63987448 FERMT3 G>A	11	63987448	63987448	G	A	FERMT3	c.1165G>A	NM_031471.6	NP_113659.3:p.(Glu389Lys)	NC_000011.9:g.63987448G>A	VUS	1 lab	6d604b570d
13:40229842 COG6 A>AG	13	40229842	40229847	A	AG	COG6	n.84dup	NR_026745.1		NC_000013.10:g.40229847dup	(Likely) benign	1 lab	6d612e91cc
12:124403487 DNAH10 G>A	12	124403487	124403487	G	A	DNAH10	c.11143G>A	NM_207437.3	NP_997320.2:p.(Gly3715Ser)	NC_000012.11:g.124403487G>A	VUS	1 lab	6d627f258b
7:140482864 BRAF C>T	7	140482864	140482864	C	T	BRAF	c.1271G>A	NM_004333.6	NP_004324.2:p.(Arg424Gln)	NC_000007.13:g.140482864C>T	VUS	1 lab	6d6a4de278
X:153784610 IKBKG G>C	X	153784610	153784610	G	C	IKBKG	c.399+19G>C	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153784610G>C	(Likely) benign	1 lab	6d6bebfbda
11:119155933 CBL T>G	11	119155933	119155933	T	G	CBL	c.1598T>G	NM_005188.4	NP_005179.2:p.(Leu533Trp)	NC_000011.9:g.119155933T>G	VUS	1 lab	6d6ea9e5a2
3:158320703 MLF1 C>A	3	158320703	158320703	C	A	MLF1	c.646C>A	NM_001195432.4	NP_001182361.2:p.(Pro216Thr)	NC_000003.11:g.158320703C>A	(Likely) benign	1 lab	6d6ee1d810
12:21997466 ABCC9 AG>A	12	21997466	21997470	AG	A	ABCC9	c.3265del	NM_020297.4	NP_064693.2:p.(Leu1089TrpfsTer3)	NC_000012.11:g.21997470del	VUS	1 lab	6d766bcba9
17:29653211 NF1 C>T	17	29653211	29653211	C	T	NF1	c.5146C>T	NM_000267.3	NP_000258.1:p.(Leu1716=)	NC_000017.10:g.29653211C>T	(Likely) benign	1 lab	6d77e49707
12:13720079 GRIN2B C>T	12	13720079	13720079	C	T	GRIN2B	c.2478G>A	NM_000834.5	NP_000825.2:p.(Gly826=)	NC_000012.11:g.13720079C>T	(Likely) benign	1 lab	6d77e6f096
10:17110595 CUBN G>A	10	17110595	17110595	G	A	CUBN	c.2791+9C>T	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17110595G>A	(Likely) benign	1 lab	6d7b7d85a1
13:103508441 ERCC5 G>T	13	103508441	103508441	G	T	ERCC5	c.507G>T	NM_000123.4	NP_000114.3:p.(Met169Ile)	NC_000013.10:g.103508441G>T	VUS	1 lab	6d841d6488
17:14110179 COX10 C>T	17	14110179	14110179	C	T	COX10	c.981C>T	NM_001303.4	NP_001294.2:p.(Asn327=)	NC_000017.10:g.14110179C>T	(Likely) benign	1 lab	6d8b0d2c27
17:61910309 SMARCD2 G>A	17	61910309	61910309	G	A	SMARCD2	c.1585C>T	NM_001098426.2	NP_001091896.1:p.(Arg529Cys)	NC_000017.10:g.61910309G>A	VUS	1 lab	6d8b90ce8b
5:80150127 MSH3 A>G	5	80150127	80150127	A	G	MSH3	c.2992A>G	NM_002439.5	NP_002430.3:p.(Ile998Val)	NC_000005.9:g.80150127A>G	VUS	1 lab	6d92f3ba1a
12:51130880 DIP2B C>G	12	51130880	51130880	C	G	DIP2B	c.4163C>G	NM_173602.3	NP_775873.2:p.(Ser1388Cys)	NC_000012.11:g.51130880C>G	VUS	1 lab	6d95dc71df
2:84777113 DNAH6 C>T	2	84777113	84777113	C	T	DNAH6	c.1417C>T	NM_001370.2	NP_001361.1:p.(Arg473Ter)	NC_000002.11:g.84777113C>T	VUS	1 lab	6d98b1ca7f
X:43599897 MAOA A>AT	X	43599897	43599912	A	AT	MAOA	c.708-16dup	NM_001270458.2	NP_001257387.1:p.?	NC_000023.10:g.43599912dup	(Likely) benign	1 lab	6da7742a0a
X:132670301 GPC3 C>T	X	132670301	132670301	C	T	GPC3	c.1594G>A	NM_004484.4	NP_004475.1:p.(Val532Met)	NC_000023.10:g.132670301C>T	VUS	1 lab	6da7a1ec0b
13:32914078 BRCA2 GAA>G	13	32914078	32914081	GAA	G	BRCA2	c.5588_5589del	NM_000059.4	NP_000050.3:p.(Lys1863ArgfsTer9)	NC_000013.10:g.32914080_32914081del	(Likely) pathogenic	1 lab	6da83c67f2
15:41388388 INO80 T>C	15	41388388	41388388	T	C	INO80	c.121A>G	NM_017553.3	NP_060023.1:p.(Ile41Val)	NC_000015.9:g.41388388T>C	VUS	1 lab	6daa4311b9
6:32725619 HLA-DQB2 T>C	6	32725619	32725619	T	C	HLA-DQB2	c.647-538A>G	NM_001198858.2	NP_001185787.1:p.?	NC_000006.11:g.32725619T>C	(Likely) benign	1 lab	6dac251c67
X:102192731 RAB40AL A>G	X	102192731	102192731	A	G	RAB40AL	c.485A>G	NM_001031834.1	NP_001027004.1:p.(Asn162Ser)	NC_000023.10:g.102192731A>G	VUS	1 lab	6db1b4d4cc
17:8065608 VAMP2 T>C	17	8065608	8065608	T	C	VAMP2	c.82A>G	NM_014232.3	NP_055047.2:p.(Ser28Gly)	NC_000017.10:g.8065608T>C	(Likely) benign	1 lab	6db4935f98
11:20648364 SLC6A5 G>C	11	20648364	20648364	G	C	SLC6A5	c.1371G>C	NM_004211.5	NP_004202.4:p.(Lys457Asn)	NC_000011.9:g.20648364G>C	(Likely) benign	1 lab	6db94e1c68
X:153296841 MECP2 G>A	X	153296841	153296841	G	A	MECP2	c.438C>T	NM_004992.4	NP_004983.1:p.(Gly146=)	NC_000023.10:g.153296841G>A	(Likely) benign	1 lab	6dbfee3d9d
11:2185555 TH C>T	11	2185555	2185555	C	T	TH	c.1495G>A	NM_199292.3	NP_954986.2:p.(Val499Met)	NC_000011.9:g.2185555C>T	VUS	1 lab	6dc485fe56
18:21140301 NPC1 G>T	18	21140301	21140301	G	T	NPC1	c.775C>A	NM_000271.5	NP_000262.2:p.(Pro259Thr)	NC_000018.9:g.21140301G>T	VUS	1 lab	6dc7884f4f
17:7460572 TNFSF12 C>T	17	7460572	7460572	C	T	TNFSF12	c.655C>T	NM_003809.3	NP_003800.1:p.(Arg219Trp)	NC_000017.10:g.7460572C>T	VUS	1 lab	6dcc8af922
7:103207056 RELN G>A	7	103207056	103207056	G	A	RELN	c.4739C>T	NM_005045.4	NP_005036.2:p.(Pro1580Leu)	NC_000007.13:g.103207056G>A	VUS	1 lab	6dd5f0eea5
14:65527977 CHURC1-FNTB C>T	14	65527977	65527977	C	T	CHURC1-FNTB	c.1444C>T	NM_001202559.1	NP_001189488.1:p.(Pro482Ser)	NC_000014.8:g.65527977C>T	VUS	1 lab	6de0a62357
15:43086915 TTBK2 C>T	15	43086915	43086915	C	T	TTBK2	c.907G>A	NM_173500.4	NP_775771.3:p.(Asp303Asn)	NC_000015.9:g.43086915C>T	VUS	1 lab	6de4c43622
13:32900376 BRCA2 C>T	13	32900376	32900376	C	T	BRCA2	c.476-3C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900376C>T	VUS	1 lab	6de5721404
1:66067110 LEPR G>A	1	66067110	66067110	G	A	LEPR	c.1030G>A	NM_002303.6	NP_002294.2:p.(Val344Ile)	NC_000001.10:g.66067110G>A	VUS	1 lab	6de836665b
22:37268257 NCF4 C>T	22	37268257	37268257	C	T	NCF4	c.529-112C>T	NM_013416.4	NP_038202.2:p.?	NC_000022.10:g.37268257C>T	(Likely) benign	1 lab	6def212f69
6:151742457 RMND1 C>CTCA	6	151742457	151742459	C	CTCA	RMND1	c.1003-2_1003-1insTGA	NM_017909.4	NP_060379.2:p.?	NC_000006.11:g.151742458_151742459insCAT	VUS	1 lab	6df3acacbb
14:53513478 DDHD1 AAG>A	14	53513478	53513484	AAG	A	DDHD1	c.*6_*7del	NM_001160148.2	NP_001153620.1:p.?	NC_000014.8:g.53513483_53513484del	(Likely) benign	1 lab	6df3d09c1a
19:10657759 ATG4D G>C	19	10657759	10657759	G	C	ATG4D	c.549G>C	NM_001281504.2	NP_001268433.1:p.(Trp183Cys)	NC_000019.9:g.10657759G>C	VUS	1 lab	6df540dca8
7:121756689 AASS C>T	7	121756689	121756689	C	T	AASS	c.892G>A	NM_005763.4	NP_005754.2:p.(Asp298Asn)	NC_000007.13:g.121756689C>T	VUS	1 lab	6df800cf4b
1:236911018 ACTN2 T>C	1	236911018	236911018	T	C	ACTN2	c.834T>C	NM_001278344.2	NP_001265273.1:p.(Ile278=)	NC_000001.10:g.236911018T>C	(Likely) benign	1 lab	6dfa12720e
9:133710819 ABL1 T>TC	9	133710819	133710820	T	TC	ABL1	c.137-18632_137-18631insC	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133710819_133710820insC	(Likely) benign	1 lab	6dfde49629
19:30165546 PLEKHF1 T>G	19	30165546	30165546	T	G	PLEKHF1	c.800T>G	NM_024310.5	NP_077286.3:p.(Phe267Cys)	NC_000019.9:g.30165546T>G	VUS	1 lab	6dfde714a6
5:112111352 APC A>G	5	112111352	112111352	A	G	APC	c.449A>G	NM_000038.6	NP_000029.2:p.(Lys150Arg)	NC_000005.9:g.112111352A>G	VUS	1 lab	6dfeeb0fcc
19:13319567 CACNA1A C>G	19	13319567	13319567	C	G	CACNA1A	c.6783+3G>C	NM_001127221.2	NP_001120693.1:p.?	NC_000019.9:g.13319567C>G	(Likely) benign	1 lab	6dfffe45d9
19:18705224 CRLF1 C>A	19	18705224	18705224	C	A	CRLF1	c.1045G>T	NM_004750.5	NP_004741.1:p.(Gly349Trp)	NC_000019.9:g.18705224C>A	VUS	1 lab	6e0030fafd
X:128709898 OCRL C>T	X	128709898	128709898	C	T	OCRL	c.1741C>T	NM_001318784.2	NP_001305713.1:p.(Arg581Trp)	NC_000023.10:g.128709898C>T	VUS	1 lab	6e0232a8e8
19:55451234 NLRP7 T>TAGATCGGCTGCTGC	19	55451234	55451248	T	TAGATCGGCTGCTGC	NLRP7	c.939_952dup	NM_206828.3	NP_996611.2:p.(Tyr318CysfsTer7)	NC_000019.9:g.55451235_55451248dup	(Likely) pathogenic	1 lab	6e0cf7abb9
1:209823376 LAMB3 C>T	1	209823376	209823376	C	T	LAMB3	c.116G>A	NM_000228.3	NP_000219.2:p.(Arg39Gln)	NC_000001.10:g.209823376C>T	(Likely) benign	1 lab	6e0e753a9f
2:149240657 MBD5 GT>G	2	149240657	149240670	GT	G	MBD5	c.2519-9del	NM_018328.5	NP_060798.2:p.?	NC_000002.11:g.149240670del	(Likely) benign	1 lab	6e1327f3e2
12:113328656 RPH3A G>C	12	113328656	113328656	G	C	RPH3A	c.1623G>C	NM_001143854.2	NP_001137326.1:p.(Gln541His)	NC_000012.11:g.113328656G>C	VUS	1 lab	6e1b17dfc0
2:179435683 TTN G>T	2	179435683	179435683	G	T	TTN	c.67472C>A	NM_133378.4	NP_596869.4:p.(Thr22491Lys)	NC_000002.11:g.179435683G>T	VUS	1 lab	6e1bcf3a96
20:47639737 ARFGEF2 A>G	20	47639737	47639737	A	G	ARFGEF2	c.4755+19A>G	NM_006420.3	NP_006411.2:p.?	NC_000020.10:g.47639737A>G	(Likely) benign	1 lab	6e231c76b2
6:93955064 EPHA7 G>A	6	93955064	93955064	G	A	EPHA7	c.2834C>T	NM_004440.4	NP_004431.1:p.(Thr945Met)	NC_000006.11:g.93955064G>A	VUS	1 lab	6e26f1ed5b
17:48269174 COL1A1 C>A	17	48269174	48269174	C	A	COL1A1	c.2102G>T	NM_000088.4	NP_000079.2:p.(Gly701Val)	NC_000017.10:g.48269174C>A	(Likely) pathogenic	1 lab	6e28169f46
2:71838392 DYSF G>C	2	71838392	71838392	G	C	DYSF	c.3972G>C	NM_001130981.2	NP_001124453.1:p.(Leu1324=)	NC_000002.11:g.71838392G>C	(Likely) benign	1 lab	6e2f3ed890
2:179429090 TTN G>T	2	179429090	179429090	G	T	TTN	c.81769C>A	NM_001267550.2	NP_001254479.2:p.(Pro27257Thr)	NC_000002.11:g.179429090G>T	VUS	1 lab	6e3365b1e8
12:2786293 CACNA1C C>T	12	2786293	2786293	C	T	CACNA1C	c.4862C>T	NM_000719.7	NP_000710.5:p.(Thr1621Met)	NC_000012.11:g.2786293C>T	VUS	1 lab	6e340091a7
3:9477591 SETD5 G>T	3	9477591	9477591	G	T	SETD5	c.567+1G>T	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9477591G>T	VUS	1 lab	6e34bb67e1
19:50105167 PRR12 T>TC	19	50105167	50105170	T	TC	PRR12	c.4768dup	NM_020719.3	NP_065770.1:p.(Leu1590ProfsTer10)	NC_000019.9:g.50105170dup	(Likely) pathogenic	1 lab	6e3dccee40
17:59560308 TBX4 G>GC	17	59560308	59560313	G	GC	TBX4	c.1074dup	NM_018488.3	NP_060958.2:p.(Ser359LeufsTer27)	NC_000017.10:g.59560313dup	(Likely) pathogenic	1 lab	6e44312d92
5:178607190 ADAMTS2 G>T	5	178607190	178607190	G	T	ADAMTS2	c.975+883C>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178607190G>T	VUS	1 lab	6e4b24609e
1:151538694 TUFT1 G>A	1	151538694	151538694	G	A	TUFT1	c.470G>A	NM_020127.3	NP_064512.1:p.(Ser157Asn)	NC_000001.10:g.151538694G>A	VUS	1 lab	6e4d77f94c
15:56393745 RFX7 G>A	15	56393745	56393745	G	A	RFX7	c.623C>T	NM_022841.7	NP_073752.6:p.(Ser208Phe)	NC_000015.9:g.56393745G>A	VUS	1 lab	6e50fdfd20
2:189868774 COL3A1 AAC>A	2	189868774	189868778	AAC	A	COL3A1	c.2731_2732del	NM_000090.4	NP_000081.2:p.(Thr911TrpfsTer14)	NC_000002.11:g.189868777_189868778del	(Likely) pathogenic	1 lab	6e5547ce83
14:94772504 SERPINA6 G>A	14	94772504	94772504	G	A	SERPINA6	c.936C>T	NM_001756.4	NP_001747.3:p.(Leu312=)	NC_000014.8:g.94772504G>A	(Likely) benign	1 lab	6e587f8dc9
11:1464332 BRSK2 G>A	11	1464332	1464332	G	A	BRSK2	c.531-4G>A	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1464332G>A	(Likely) benign	1 lab	6e5a3eec24
11:108163449 ATM G>T	11	108163449	108163449	G	T	ATM	c.4540G>T	NM_000051.4	NP_000042.3:p.(Glu1514Ter)	NC_000011.9:g.108163449G>T	(Likely) pathogenic	1 lab	6e5e550818
4:996012 IDUA G>C	4	996012	996012	G	C	IDUA	c.973-45G>C	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996012G>C	(Likely) benign	1 lab	6e61ca2faf
X:43571208 MAOA T>C	X	43571208	43571208	T	C	MAOA	c.396T>C	NM_000240.4	NP_000231.1:p.(Asp132=)	NC_000023.10:g.43571208T>C	(Likely) benign	1 lab	6e66ac4cc9
11:34937931 PDHX G>A	11	34937931	34937931	G	A	PDHX	c.13G>A	NM_001135024.1	NP_001128496.1:p.(Gly5Ser)	NC_000011.9:g.34937931G>A	(Likely) benign	1 lab	6e67c5b17a
1:120611758 NOTCH2 G>A	1	120611758	120611758	G	A	NOTCH2	c.73+190C>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611758G>A	(Likely) benign	1 lab	6e6943f158
X:147019097 FMR1 C>T	X	147019097	147019097	C	T	FMR1	c.1103C>T	NM_002024.6	NP_002015.1:p.(Pro368Leu)	NC_000023.10:g.147019097C>T	VUS	1 lab	6e69646451
11:6640422 TPP1 C>G	11	6640422	6640422	C	G	TPP1	c.89+5G>C	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6640422C>G	(Likely) pathogenic	1 lab	6e6a743f5a
15:85400838 ALPK3 A>G	15	85400838	85400838	A	G	ALPK3	c.2869A>G	NM_020778.5	NP_065829.4:p.(Ile957Val)	NC_000015.9:g.85400838A>G	VUS	1 lab	6e6f7112aa
16:85690000 GSE1 C>CGAGCGT	16	85690000	85690015	C	CGAGCGT	GSE1	c.1051_1056dup	NM_014615.5	NP_055430.1:p.(Arg351_Glu352dup)	NC_000016.9:g.85690010_85690015dup	(Likely) benign	1 lab	6e74ae263d
11:64693330 PPP2R5B C>T	11	64693330	64693330	C	T	PPP2R5B	c.124C>T	NM_006244.4	NP_006235.1:p.(Arg42Cys)	NC_000011.9:g.64693330C>T	VUS	1 lab	6e7893e04f
6:3078040 RIPK1 G>A	6	3078040	3078040	G	A	RIPK1	c.192G>A	NM_003804.6	NP_003795.2:p.(Ala64=)	NC_000006.11:g.3078040G>A	(Likely) benign	1 lab	6e79908a83
17:78178095 CARD14 C>T	17	78178095	78178095	C	T	CARD14	c.2353C>T	NM_024110.4	NP_077015.2:p.(Arg785Cys)	NC_000017.10:g.78178095C>T	(Likely) benign	1 lab	6e7a7d73ba
14:24624676 RNF31 C>T	14	24624676	24624676	C	T	RNF31	c.2358C>T	NM_017999.5	NP_060469.4:p.(Thr786=)	NC_000014.8:g.24624676C>T	(Likely) benign	1 lab	6e7ed05f40
4:47944029 CNGA1 CA>C	4	47944029	47944047	CA	C	CNGA1	c.545+28del	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47944047del	(Likely) benign	1 lab	6e80dfcb97
2:170094716 LRP2 T>C	2	170094716	170094716	T	C	LRP2	c.4391A>G	NM_004525.3	NP_004516.2:p.(Asn1464Ser)	NC_000002.11:g.170094716T>C	(Likely) benign	1 lab	6e82144f6d
11:125851168 CDON C>T	11	125851168	125851168	C	T	CDON	c.3052G>A	NM_016952.5	NP_058648.4:p.(Asp1018Asn)	NC_000011.9:g.125851168C>T	VUS	1 lab	6e82817062
3:15509327 COLQ C>G	3	15509327	15509327	C	G	COLQ	c.688-1383G>C	NM_080538.2	NP_536799.1:p.?	NC_000003.11:g.15509327C>G	(Likely) benign	1 lab	6e88b031ba
X:129149417 BCORL1 G>A	X	129149417	129149417	G	A	BCORL1	c.2669G>A	NM_021946.5	NP_068765.3:p.(Arg890Gln)	NC_000023.10:g.129149417G>A	(Likely) benign	1 lab	6e8b9d3d3f
16:31141816 KAT8 C>T	16	31141816	31141816	C	T	KAT8	c.1046C>T	NM_182958.4	NP_892003.2:p.(Pro349Leu)	NC_000016.9:g.31141816C>T	VUS	1 lab	6e8cfba588
7:91726523 AKAP9 G>A	7	91726523	91726523	G	A	AKAP9	c.10250G>A	NM_005751.5	NP_005742.4:p.(Arg3417His)	NC_000007.13:g.91726523G>A	VUS	1 lab	6e8e46ec3e
X:41055604 USP9X G>C	X	41055604	41055604	G	C	USP9X	c.4078G>C	NM_001039590.3	NP_001034679.2:p.(Val1360Leu)	NC_000023.10:g.41055604G>C	VUS	1 lab	6e8e8fb10d
5:1878261 IRX4 T>C	5	1878261	1878261	T	C	IRX4	c.1382A>G	NM_016358.3	NP_057442.1:p.(Lys461Arg)	NC_000005.9:g.1878261T>C	VUS	1 lab	6e90704c41
20:33580985 MYH7B C>T	20	33580985	33580985	C	T	MYH7B	c.2390C>T	NM_020884.5	NP_065935.3:p.(Ser797Leu)	NC_000020.10:g.33580985C>T	VUS	1 lab	6e90b57ef5
1:226026406 EPHX1 A>G	1	226026406	226026406	A	G	EPHX1	c.416A>G	NM_000120.4	NP_000111.1:p.(His139Arg)	NC_000001.10:g.226026406A>G	(Likely) benign	1 lab	6e954d4a19
3:186395572 HRG A>T	3	186395572	186395572	A	T	HRG	c.1478A>T	NM_000412.5	NP_000403.1:p.(Asn493Ile)	NC_000003.11:g.186395572A>T	(Likely) benign	1 lab	6e95949981
2:189974958 COL5A2 G>T	2	189974958	189974958	G	T	COL5A2	c.315C>A	NM_000393.5	NP_000384.2:p.(Thr105=)	NC_000002.11:g.189974958G>T	(Likely) benign	1 lab	6e97352be0
7:6035182 PMS2 G>A	7	6035182	6035182	G	A	PMS2	c.886C>T	NM_000535.7	NP_000526.2:p.(Pro296Ser)	NC_000007.13:g.6035182G>A	VUS	1 lab	6e97e1200b
7:6035199 PMS2 A>T	7	6035199	6035199	A	T	PMS2	c.869T>A	NM_000535.7	NP_000526.2:p.(Phe290Tyr)	NC_000007.13:g.6035199A>T	VUS	1 lab	6e9b866d88
18:52942874 TCF4 A>AC	18	52942874	52942875	A	AC	TCF4	c.764dup	NM_001083962.2	NP_001077431.1:p.(Cys255TrpfsTer2)	NC_000018.9:g.52942875dup	(Likely) pathogenic	1 lab	6e9c277536
1:236881201 ACTN2 C>T	1	236881201	236881201	C	T	ACTN2	c.170C>T	NM_001103.4	NP_001094.1:p.(Thr57Ile)	NC_000001.10:g.236881201C>T	VUS	1 lab	6e9c4f9c64
9:35801087 NPR2 A>G	9	35801087	35801087	A	G	NPR2	c.1372A>G	NM_003995.4	NP_003986.2:p.(Ile458Val)	NC_000009.11:g.35801087A>G	VUS	1 lab	6ea2a68752
2:179393000 TTN C>T	2	179393000	179393000	C	T	TTN	c.107377+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179393000C>T	(Likely) pathogenic	1 lab	6eaa6b930e
2:179458726 TTN G>C	2	179458726	179458726	G	C	TTN	c.58394C>G	NM_001267550.2	NP_001254479.2:p.(Thr19465Arg)	NC_000002.11:g.179458726G>C	VUS	1 lab	6eaf2db7a4
2:179438143 TTN A>T	2	179438143	179438143	A	T	TTN	c.72716T>A	NM_001267550.2	NP_001254479.2:p.(Met24239Lys)	NC_000002.11:g.179438143A>T	VUS	1 lab	6eb022176b
22:28195564 MN1 A>G	22	28195564	28195564	A	G	MN1	c.968T>C	NM_002430.3	NP_002421.3:p.(Met323Thr)	NC_000022.10:g.28195564A>G	VUS	1 lab	6eb3313127
17:7604072 WRAP53 G>A	17	7604072	7604072	G	A	WRAP53	c.656G>A	NM_018081.2	NP_060551.2:p.(Arg219Gln)	NC_000017.10:g.7604072G>A	VUS	1 lab	6eba5da9f9
15:58830630 LIPC C>T	15	58830630	58830630	C	T	LIPC	c.187C>T	NM_000236.3	NP_000227.2:p.(Gln63Ter)	NC_000015.9:g.58830630C>T	(Likely) pathogenic	1 lab	6ebbcd113a
3:132431973 NPHP3 G>A	3	132431973	132431973	G	A	NPHP3	c.1115C>T	NM_153240.5	NP_694972.3:p.(Pro372Leu)	NC_000003.11:g.132431973G>A	(Likely) pathogenic	1 lab	6ec1f230a6
11:2905204 CDKN1C G>GC	11	2905204	2905211	G	GC	CDKN1C	c.*5+24dup	NM_000076.2	NP_000067.1:p.?	NC_000011.9:g.2905211dup	(Likely) benign	1 lab	6ec360b3c6
19:4054396 ZBTB7A C>A	19	4054396	4054396	C	A	ZBTB7A	c.835G>T	NM_015898.4	NP_056982.1:p.(Glu279Ter)	NC_000019.9:g.4054396C>A	(Likely) pathogenic	1 lab	6ec5826508
6:31083945 CDSN C>T	6	31083945	31083945	C	T	CDSN	c.1447G>A	NM_001264.5	NP_001255.4:p.(Ala483Thr)	NC_000006.11:g.31083945C>T	(Likely) benign	1 lab	6ecb24801c
1:118424442 GDAP2 T>C	1	118424442	118424442	T	C	GDAP2	c.1302+3A>G	NM_017686.4	NP_060156.1:p.?	NC_000001.10:g.118424442T>C	VUS	1 lab	6ecc498e64
16:67663437 CTCF G>GT	16	67663437	67663438	G	GT	CTCF	c.1837+2dup	NM_006565.4	NP_006556.1:p.?	NC_000016.9:g.67663438dup	VUS	1 lab	6ed5e2ca00
17:39923762 JUP C>T	17	39923762	39923762	C	T	JUP	c.778G>A	NM_002230.4	NP_002221.1:p.(Ala260Thr)	NC_000017.10:g.39923762C>T	VUS	1 lab	6ed6af55ac
18:29175172 TTR C>A	18	29175172	29175172	C	A	TTR	c.290C>A	NM_000371.4	NP_000362.1:p.(Ser97Tyr)	NC_000018.9:g.29175172C>A	(Likely) pathogenic	1 lab	6ee5ff43df
6:26205039 H4C5 G>C	6	26205039	26205039	G	C	H4C5	c.167G>C	NM_003545.4	NP_003536.1:p.(Arg56Pro)	NC_000006.11:g.26205039G>C	VUS	1 lab	6ef136c770
16:23226528 SCNN1G G>A	16	23226528	23226528	G	A	SCNN1G	c.1688G>A	NM_001039.4	NP_001030.2:p.(Arg563His)	NC_000016.9:g.23226528G>A	VUS	1 lab	6ef35c355a
11:6643542 DCHS1 C>T	11	6643542	6643542	C	T	DCHS1	c.9365G>A	NM_003737.4	NP_003728.1:p.(Gly3122Asp)	NC_000011.9:g.6643542C>T	VUS	1 lab	6ef3b718e3
10:105798872 COL17A1 T>C	10	105798872	105798872	T	C	COL17A1	c.2904A>G	NM_000494.4	NP_000485.3:p.(Pro968=)	NC_000010.10:g.105798872T>C	(Likely) benign	1 lab	6ef9f6156f
1:244218538 ZBTB18 G>A	1	244218538	244218538	G	A	ZBTB18	c.1462G>A	NM_205768.3	NP_991331.1:p.(Gly488Arg)	NC_000001.10:g.244218538G>A	(Likely) pathogenic	1 lab	6efa1246e9
15:58253449 ALDH1A2 T>C	15	58253449	58253449	T	C	ALDH1A2	c.1295A>G	NM_003888.4	NP_003879.2:p.(Asp432Gly)	NC_000015.9:g.58253449T>C	VUS	1 lab	6efbe6a1ec
22:46932713 CELSR1 G>C	22	46932713	46932713	G	C	CELSR1	c.355C>G	NM_014246.4	NP_055061.1:p.(Arg119Gly)	NC_000022.10:g.46932713G>C	VUS	1 lab	6efe7b0d6e
2:215940242 ABCA12 T>C	2	215940242	215940242	T	C	ABCA12	c.164-11300A>G	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215940242T>C	(Likely) benign	1 lab	6f01175607
12:28124956 PTHLH T>TA	12	28124956	28124983	T	TA	PTHLH	c.-358-5dup	NM_198965.2	NP_945316.1:p.?	NC_000012.11:g.28124983dup	(Likely) benign	1 lab	6f04d4959f
1:247588412 NLRP3 G>A	1	247588412	247588412	G	A	NLRP3	c.1661G>A	NM_001243133.2	NP_001230062.1:p.(Arg554Gln)	NC_000001.10:g.247588412G>A	VUS	1 lab	6f0775511f
6:7574490 DSP A>G	6	7574490	7574490	A	G	DSP	c.2297+5A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574490A>G	(Likely) benign	1 lab	6f089100ce
1:103355063 COL11A1 C>T	1	103355063	103355063	C	T	COL11A1	c.4412G>A	NM_001854.4	NP_001845.3:p.(Gly1471Asp)	NC_000001.10:g.103355063C>T	(Likely) pathogenic	1 lab	6f1225b47e
9:98209350 PTCH1 TC>T	9	98209350	98209355	TC	T	PTCH1	c.4187del	NM_000264.5	NP_000255.2:p.(Gly1396AspfsTer56)	NC_000009.11:g.98209355del	VUS	1 lab	6f132994b5
2:179605338 TTN C>T	2	179605338	179605338	C	T	TTN	c.12622G>A	NM_001267550.2	NP_001254479.2:p.(Glu4208Lys)	NC_000002.11:g.179605338C>T	VUS	1 lab	6f13954450
12:125432386 DHX37 C>T	12	125432386	125432386	C	T	DHX37	c.3436G>A	NM_032656.4	NP_116045.2:p.(Asp1146Asn)	NC_000012.11:g.125432386C>T	VUS	1 lab	6f13f146ed
12:31256905 DDX11 T>C	12	31256905	31256905	T	C	DDX11	c.2851T>C	NM_152438.2	NP_689651.1:p.(Cys951Arg)	NC_000012.11:g.31256905T>C	(Likely) benign	1 lab	6f1cf2176d
11:62291479 AHNAK C>A	11	62291479	62291479	C	A	AHNAK	c.10410G>T	NM_001620.3	NP_001611.1:p.(Trp3470Cys)	NC_000011.9:g.62291479C>A	VUS	1 lab	6f25c6fe12
1:196254848 KCNT2 C>T	1	196254848	196254848	C	T	KCNT2	c.2636G>A	NM_198503.5	NP_940905.2:p.(Arg879Gln)	NC_000001.10:g.196254848C>T	VUS	1 lab	6f2708acb2
22:17684628 ADA2 G>A	22	17684628	17684628	G	A	ADA2	c.578C>T	NM_001282225.2	NP_001269154.1:p.(Pro193Leu)	NC_000022.10:g.17684628G>A	(Likely) pathogenic	1 lab	6f2719bb20
2:179501331 TTN C>T	2	179501331	179501331	C	T	TTN	c.41123G>A	NM_001267550.2	NP_001254479.2:p.(Cys13708Tyr)	NC_000002.11:g.179501331C>T	VUS	1 lab	6f28143c97
3:180372681 CCDC39 T>A	3	180372681	180372681	T	A	CCDC39	c.799A>T	NM_181426.2	NP_852091.1:p.(Lys267Ter)	NC_000003.11:g.180372681T>A	(Likely) pathogenic	1 lab	6f295a9549
16:70289642 AARS1 C>T	16	70289642	70289642	C	T	AARS1	c.2275G>A	NM_001605.3	NP_001596.2:p.(Glu759Lys)	NC_000016.9:g.70289642C>T	VUS	1 lab	6f2a3ca473
19:11617102 ECSIT C>T	19	11617102	11617102	C	T	ECSIT	c.*153G>A	NM_001142464.3	NP_001135936.1:p.?	NC_000019.9:g.11617102C>T	VUS	1 lab	6f2ba517fc
13:49051481 RB1 T>A	13	49051481	49051481	T	A	RB1	c.2664-10T>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49051481T>A	(Likely) benign	1 lab	6f2e10466d
13:48881488 RB1 C>CAG	13	48881488	48881498	C	CAG	RB1	c.219_220dup	NM_000321.3	NP_000312.2:p.(Ala74GlufsTer4)	NC_000013.10:g.48881497_48881498dup	(Likely) pathogenic	1 lab	6f2f55f70b
11:123509015 SCN3B AGGTGAAG>A	11	123509015	123509022	AGGTGAAG	A	SCN3B	c.456_462del	NM_018400.4	NP_060870.1:p.(Phe153LeufsTer7)	NC_000011.9:g.123509016_123509022del	VUS	1 lab	6f30759adb
6:111694841 REV3L G>A	6	111694841	111694841	G	A	REV3L	c.4717C>T	NM_002912.5	NP_002903.3:p.(Arg1573Trp)	NC_000006.11:g.111694841G>A	VUS	1 lab	6f3576ba2b
6:152708453 SYNE1 C>G	6	152708453	152708453	C	G	SYNE1	c.8241G>C	NM_182961.4	NP_892006.3:p.(Gln2747His)	NC_000006.11:g.152708453C>G	VUS	1 lab	6f3a343eca
7:39990488 CDK13 C>G	7	39990488	39990488	C	G	CDK13	c.248C>G	NM_003718.5	NP_003709.3:p.(Pro83Arg)	NC_000007.13:g.39990488C>G	VUS	1 lab	6f3e6a1c24
8:72981435 TRPA1 T>C	8	72981435	72981435	T	C	TRPA1	c.269-2A>G	NM_007332.3	NP_015628.2:p.?	NC_000008.10:g.72981435T>C	VUS	1 lab	6f433647fb
2:44123819 LRPPRC G>C	2	44123819	44123819	G	C	LRPPRC	c.3854C>G	NM_133259.4	NP_573566.2:p.(Pro1285Arg)	NC_000002.11:g.44123819G>C	VUS	1 lab	6f538b7aba
7:56088907 PSPH G>C	7	56088907	56088907	G	C	PSPH	c.-2C>G	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56088907G>C	(Likely) benign	1 lab	6f53d63eae
5:161495067 GABRG2 A>C	5	161495067	161495067	A	C	GABRG2	c.-3-2A>C	NM_001375345.1	NP_001362274.1:p.?	NC_000005.9:g.161495067A>C	VUS	1 lab	6f54599f69
16:78148893 WWOX C>G	16	78148893	78148893	C	G	WWOX	c.251C>G	NM_016373.4	NP_057457.1:p.(Thr84Ser)	NC_000016.9:g.78148893C>G	VUS	1 lab	6f55c4d5da
15:35085499 ACTC1 A>G	15	35085499	35085499	A	G	ACTC1	c.401T>C	NM_005159.5	NP_005150.1:p.(Met134Thr)	NC_000015.9:g.35085499A>G	VUS	1 lab	6f563df1c3
10:89725043 PTEN G>T	10	89725043	89725043	G	T	PTEN	c.1027-1G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89725043G>T	(Likely) pathogenic	1 lab	6f593c00eb
17:37822330 TCAP C>CGCTCCATGTCCCAG	17	37822330	37822345	C	CGCTCCATGTCCCAG	TCAP	c.474_487dup	NM_003673.4	NP_003664.1:p.(Glu163AlafsTer30)	NC_000017.10:g.37822332_37822345dup	(Likely) pathogenic	1 lab	6f5946f7ad
22:24179899 SMARCB1 G>A	22	24179899	24179899	G	A	SMARCB1	c.*3532G>A	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24179899G>A	VUS	1 lab	6f597bbe11
5:149497299 PDGFRB C>T	5	149497299	149497299	C	T	PDGFRB	c.3019G>A	NM_002609.4	NP_002600.1:p.(Val1007Ile)	NC_000005.9:g.149497299C>T	(Likely) benign	1 lab	6f623fc7b7
X:19367441 PDHA1 G>A	X	19367441	19367441	G	A	PDHA1	c.183G>A	NM_001173454.2	NP_001166925.1:p.(Val61=)	NC_000023.10:g.19367441G>A	(Likely) benign	1 lab	6f6512d150
21:47410909 COL6A1 C>T	21	47410909	47410909	C	T	COL6A1	c.1073C>T	NM_001848.3	NP_001839.2:p.(Pro358Leu)	NC_000021.8:g.47410909C>T	VUS	1 lab	6f689ebb36
5:52397270 MOCS2 G>A	5	52397270	52397270	G	A	MOCS2	c.296C>T	NM_004531.5	NP_004522.1:p.(Ala99Val)	NC_000005.9:g.52397270G>A	VUS	1 lab	6f69782e2b
19:18943207 UPF1 CGGCGCG>C	19	18943207	18943224	CGGCGCG	C	UPF1	c.201_206del	NM_002911.4	NP_002902.2:p.(Gly68_Ala69del)	NC_000019.9:g.18943219_18943224del	VUS	1 lab	6f6f429986
15:94858861 MCTP2 G>A	15	94858861	94858861	G	A	MCTP2	c.632G>A	NM_018349.4	NP_060819.3:p.(Arg211His)	NC_000015.9:g.94858861G>A	VUS	1 lab	6f7a2c362a
2:173339808 ITGA6 G>A	2	173339808	173339808	G	A	ITGA6	c.1138G>A	NM_000210.4	NP_000201.2:p.(Ala380Thr)	NC_000002.11:g.173339808G>A	(Likely) benign	1 lab	6f82b4576e
16:23632745 PALB2 AG>A	16	23632745	23632746	AG	A	PALB2	c.3050del	NM_024675.4	NP_078951.2:p.(Ala1017ValfsTer16)	NC_000016.9:g.23632746del	(Likely) pathogenic	1 lab	6f867e8d6d
11:119216504 MFRP C>T	11	119216504	119216504	C	T	MFRP	c.406G>A	NM_031433.4	NP_113621.1:p.(Val136Met)	NC_000011.9:g.119216504C>T	(Likely) benign	1 lab	7bdd082dfc
3:48612945 COL7A1 C>T	3	48612945	48612945	C	T	COL7A1	c.6007G>A	NM_000094.4	NP_000085.1:p.(Gly2003Arg)	NC_000003.11:g.48612945C>T	(Likely) pathogenic	1 lab	6f86d45327
19:616188 HCN2 ACGGCGGCCTGCC>A	19	616188	616202	ACGGCGGCCTGCC	A	HCN2	c.2387_2398del	NM_001194.4	NP_001185.3:p.(Gly796_Pro799del)	NC_000019.9:g.616191_616202del	VUS	1 lab	6f89e28d24
6:31084163 CDSN A>G	6	31084163	31084163	A	G	CDSN	c.1229T>C	NM_001264.5	NP_001255.4:p.(Leu410Ser)	NC_000006.11:g.31084163A>G	(Likely) benign	1 lab	6f8af0c538
3:38598057 SCN5A G>A	3	38598057	38598057	G	A	SCN5A	c.4312C>T	NM_198056.3	NP_932173.1:p.(Pro1438Ser)	NC_000003.11:g.38598057G>A	VUS	1 lab	6f8c249cde
7:154585901 DPP6 G>A	7	154585901	154585901	G	A	DPP6	c.1063G>A	NM_001936.5	NP_001927.3:p.(Val355Ile)	NC_000007.13:g.154585901G>A	(Likely) benign	1 lab	6f930c8e96
8:61720836 CHD7 G>A	8	61720836	61720836	G	A	CHD7	c.2498+5G>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61720836G>A	(Likely) pathogenic	1 lab	6f95140c08
12:49433905 KMT2D G>A	12	49433905	49433905	G	A	KMT2D	c.7648C>T	NM_003482.4	NP_003473.3:p.(Pro2550Ser)	NC_000012.11:g.49433905G>A	VUS	1 lab	6f95212742
12:133237566 POLE G>A	12	133237566	133237566	G	A	POLE	c.3049C>T	NM_006231.4	NP_006222.2:p.(Leu1017=)	NC_000012.11:g.133237566G>A	(Likely) benign	1 lab	6f9c65f3b5
20:30414686 MYLK2 T>C	20	30414686	30414686	T	C	MYLK2	c.1169T>C	NM_033118.4	NP_149109.1:p.(Ile390Thr)	NC_000020.10:g.30414686T>C	VUS	1 lab	6f9ce9d0ef
11:6648671 DCHS1 C>A	11	6648671	6648671	C	A	DCHS1	c.5599G>T	NM_003737.4	NP_003728.1:p.(Asp1867Tyr)	NC_000011.9:g.6648671C>A	VUS	1 lab	6f9f3ec125
1:10720512 CASZ1 G>A	1	10720512	10720512	G	A	CASZ1	c.587C>T	NM_001079843.3	NP_001073312.1:p.(Thr196Met)	NC_000001.10:g.10720512G>A	VUS	1 lab	6fa011ba92
1:39816571 MACF1 C>T	1	39816571	39816571	C	T	MACF1	c.4894C>T	NM_012090.5	NP_036222.3:p.(Leu1632Phe)	NC_000001.10:g.39816571C>T	(Likely) benign	1 lab	6fa48cc87f
1:175355402 TNR C>T	1	175355402	175355402	C	T	TNR	c.1543G>A	NM_003285.3	NP_003276.3:p.(Val515Ile)	NC_000001.10:g.175355402C>T	VUS	1 lab	6fa5716fcf
2:179569482 TTN A>G	2	179569482	179569482	A	G	TTN	c.29717T>C	NM_001267550.2	NP_001254479.2:p.(Ile9906Thr)	NC_000002.11:g.179569482A>G	VUS	1 lab	6fa71b211f
11:57575943 CTNND1 C>T	11	57575943	57575943	C	T	CTNND1	c.2173C>T	NM_001085458.2	NP_001078927.1:p.(Arg725Trp)	NC_000011.9:g.57575943C>T	(Likely) benign	1 lab	6fb0bf66fe
17:39780637 KRT17 A>G	17	39780637	39780637	A	G	KRT17	c.125T>C	NM_000422.3	NP_000413.1:p.(Leu42Pro)	NC_000017.10:g.39780637A>G	(Likely) benign	1 lab	6fb74a19d9
X:69253306 EDA T>G	X	69253306	69253306	T	G	EDA	c.852T>G	NM_001399.5	NP_001390.1:p.(Phe284Leu)	NC_000023.10:g.69253306T>G	(Likely) pathogenic	1 lab	6fbe1af665
2:179621160 TTN A>AC	2	179621160	179621161	A	AC	TTN	c.11042dup	NM_001267550.2	NP_001254479.2:p.(Cys3681TrpfsTer6)	NC_000002.11:g.179621161dup	(Likely) pathogenic	1 lab	6fc7672c2b
11:66460505 SPTBN2 C>T	11	66460505	66460505	C	T	SPTBN2	c.4921G>A	NM_006946.4	NP_008877.2:p.(Ala1641Thr)	NC_000011.9:g.66460505C>T	(Likely) benign	1 lab	6fcbc7d513
1:19559156 EMC1 G>A	1	19559156	19559156	G	A	EMC1	c.1744C>T	NM_015047.3	NP_055862.1:p.(Pro582Ser)	NC_000001.10:g.19559156G>A	(Likely) pathogenic	1 lab	6fd7e11c8b
14:103410234 CDC42BPB C>T	14	103410234	103410234	C	T	CDC42BPB	c.4402G>A	NM_006035.4	NP_006026.3:p.(Ala1468Thr)	NC_000014.8:g.103410234C>T	VUS	1 lab	6fd9ee319c
17:73746356 ITGB4 C>T	17	73746356	73746356	C	T	ITGB4	c.3474+7C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73746356C>T	(Likely) benign	1 lab	6fdd1a9a1b
1:24981461 SRRM1 C>T	1	24981461	24981461	C	T	SRRM1	c.1156C>T	NM_005839.4	NP_005830.2:p.(Arg386Cys)	NC_000001.10:g.24981461C>T	VUS	1 lab	6fdfebd31a
10:92675402 ANKRD1 G>T	10	92675402	92675402	G	T	ANKRD1	c.751-4C>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675402G>T	(Likely) benign	1 lab	6fe3cb2a79
16:30733541 SRCAP A>T	16	30733541	30733541	A	T	SRCAP	c.3640A>T	NM_006662.3	NP_006653.2:p.(Asn1214Tyr)	NC_000016.9:g.30733541A>T	VUS	1 lab	6fe416217f
17:4646715 ZMYND15 GA>G	17	4646715	4646716	GA	G	ZMYND15	c.1263del	NM_001136046.3	NP_001129518.1:p.(Gly422AlafsTer25)	NC_000017.10:g.4646716del	VUS	1 lab	6fe53fd6f7
10:102750623 TWNK T>C	10	102750623	102750623	T	C	TWNK	c.1593-3T>C	NM_021830.5	NP_068602.2:p.?	NC_000010.10:g.102750623T>C	(Likely) benign	1 lab	6fe702590a
15:99500605 IGF1R C>A	15	99500605	99500605	C	A	IGF1R	c.4038C>A	NM_000875.5	NP_000866.1:p.(Tyr1346Ter)	NC_000015.9:g.99500605C>A	VUS	1 lab	6feb4ef72d
7:70254753 AUTS2 C>G	7	70254753	70254753	C	G	AUTS2	c.2551C>G	NM_015570.4	NP_056385.1:p.(His851Asp)	NC_000007.13:g.70254753C>G	VUS	1 lab	6fef0090cd
3:150883741 MED12L G>C	3	150883741	150883741	G	C	MED12L	c.1466G>C	NM_053002.5	NP_443728.3:p.(Trp489Ser)	NC_000003.11:g.150883741G>C	VUS	1 lab	6fefac1d12
7:44579110 NPC1L1 C>T	7	44579110	44579110	C	T	NPC1L1	c.886G>A	NM_013389.3	NP_037521.2:p.(Ala296Thr)	NC_000007.13:g.44579110C>T	VUS	1 lab	6ff7c0a0af
8:97343251 PTDSS1 T>A	8	97343251	97343251	T	A	PTDSS1	c.1243-3T>A	NM_014754.3	NP_055569.1:p.?	NC_000008.10:g.97343251T>A	(Likely) benign	1 lab	6ff80c6c26
22:19885591 TXNRD2 G>A	22	19885591	19885591	G	A	TXNRD2	c.745C>T	NM_001282512.3	NP_001269441.1:p.(Arg249Cys)	NC_000022.10:g.19885591G>A	VUS	1 lab	6ffb5394ce
10:69966630 MYPN G>A	10	69966630	69966630	G	A	MYPN	c.2881G>A	NM_001256268.2	NP_001243197.1:p.(Val961Met)	NC_000010.10:g.69966630G>A	VUS	1 lab	6ffc26c01d
2:127819777 BIN1 C>T	2	127819777	127819777	C	T	BIN1	c.775-4G>A	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127819777C>T	(Likely) benign	1 lab	70036ba115
3:48604164 COL7A1 G>A	3	48604164	48604164	G	A	COL7A1	c.8233C>T	NM_000094.4	NP_000085.1:p.(Arg2745Ter)	NC_000003.11:g.48604164G>A	(Likely) pathogenic	1 lab	7008a61bcb
5:55212626 IL31RA C>A	5	55212626	55212626	C	A	IL31RA	c.1973C>A	NM_139017.7	NP_620586.3:p.(Thr658Lys)	NC_000005.9:g.55212626C>A	(Likely) benign	1 lab	7008b22328
7:151900065 KMT2C C>T	7	151900065	151900065	C	T	KMT2C	c.4046G>A	NM_170606.3	NP_733751.2:p.(Arg1349Gln)	NC_000007.13:g.151900065C>T	VUS	1 lab	700ee8da8d
2:215840671 ABCA12 G>A	2	215840671	215840671	G	A	ABCA12	c.5219C>T	NM_173076.3	NP_775099.2:p.(Thr1740Ile)	NC_000002.11:g.215840671G>A	VUS	1 lab	7012009cdd
19:35758204 LSR T>C	19	35758204	35758204	T	C	LSR	c.1337T>C	NM_205834.4	NP_991403.2:p.(Val446Ala)	NC_000019.9:g.35758204T>C	VUS	1 lab	701313682f
12:7241318 C1R C>T	12	7241318	7241318	C	T	C1R	c.926G>A	NM_001733.7	NP_001724.4:p.(Cys309Tyr)	NC_000012.11:g.7241318C>T	(Likely) pathogenic	1 lab	70140b2329
2:189870988 COL3A1 A>G	2	189870988	189870988	A	G	COL3A1	c.3093+3A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189870988A>G	(Likely) benign	1 lab	7015a5dca0
3:37067312 MLH1 CCCAGGCCATTGTCACAGAGGATAAGACAGATATTT>C	3	37067312	37067348	CCCAGGCCATTGTCACAGAGGATAAGACAGATATTT	C	MLH1	c.1225_1259del	NM_000249.4	NP_000240.1:p.(Gln409Ter)	NC_000003.11:g.37067314_37067348del	(Likely) pathogenic	1 lab	7015dfeb75
15:35086864 ACTC1 C>CG	15	35086864	35086865	C	CG	ACTC1	c.129+16_129+17insC	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35086864_35086865insG	(Likely) benign	1 lab	7017de9c45
20:30419888 MYLK2 C>T	20	30419888	30419888	C	T	MYLK2	c.1659C>T	NM_033118.4	NP_149109.1:p.(Arg553=)	NC_000020.10:g.30419888C>T	(Likely) benign	1 lab	7023368f63
3:119101206 ARHGAP31 G>A	3	119101206	119101206	G	A	ARHGAP31	c.499G>A	NM_020754.4	NP_065805.2:p.(Ala167Thr)	NC_000003.11:g.119101206G>A	(Likely) benign	1 lab	70256df101
16:3778439 CREBBP TTGCTGC>T	16	3778439	3778454	TTGCTGC	T	CREBBP	c.6603_6608del	NM_004380.3	NP_004371.2:p.(Gln2215_Gln2216del)	NC_000016.9:g.3778449_3778454del	VUS	1 lab	70287840f0
20:49510431 ADNP T>TG	20	49510431	49510434	T	TG	ADNP	c.819dup	NM_015339.5	NP_056154.1:p.(Lys274GlnfsTer40)	NC_000020.10:g.49510434dup	(Likely) pathogenic	1 lab	7033b0f47f
16:67679438 CARMIL2 C>G	16	67679438	67679438	C	G	CARMIL2	c.41-5C>G	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67679438C>G	(Likely) benign	1 lab	703ec4343c
14:102474534 DYNC1H1 T>C	14	102474534	102474534	T	C	DYNC1H1	c.5837T>C	NM_001376.5	NP_001367.2:p.(Val1946Ala)	NC_000014.8:g.102474534T>C	VUS	1 lab	703f31bf4c
12:1995403 CACNA2D4 T>C	12	1995403	1995403	T	C	CACNA2D4	c.979A>G	NM_172364.5	NP_758952.4:p.(Ile327Val)	NC_000012.11:g.1995403T>C	(Likely) benign	1 lab	7041332201
12:48391409 COL2A1 CA>C	12	48391409	48391410	CA	C	COL2A1	c.510del	NM_001844.5	NP_001835.3:p.(Gly171ValfsTer28)	NC_000012.11:g.48391410del	(Likely) pathogenic	1 lab	7042a06ac9
2:179456185 TTN C>CT	2	179456185	179456186	C	CT	TTN	c.60266_60267insA	NM_001267550.2	NP_001254479.2:p.(Val20090GlyfsTer29)	NC_000002.11:g.179456185_179456186insT	(Likely) pathogenic	1 lab	7042e47c22
17:78263486 RNF213 T>C	17	78263486	78263486	T	C	RNF213	c.962T>C	NM_001256071.3	NP_001243000.2:p.(Met321Thr)	NC_000017.10:g.78263486T>C	(Likely) benign	1 lab	704e772579
11:47369405 MYBPC3 C>A	11	47369405	47369405	C	A	MYBPC3	c.821+3G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369405C>A	(Likely) pathogenic	1 lab	704fae1780
8:74893431 TMEM70 AC>A	8	74893431	74893432	AC	A	TMEM70	c.359del	NM_017866.6	NP_060336.3:p.(Thr120AsnfsTer34)	NC_000008.10:g.74893432del	(Likely) pathogenic	1 lab	705211409b
21:46957675 SLC19A1 A>G	21	46957675	46957675	A	G	SLC19A1	c.189+10T>C	NM_194255.4	NP_919231.1:p.?	NC_000021.8:g.46957675A>G	(Likely) benign	1 lab	7054d3afd6
9:14737468 FREM1 T>C	9	14737468	14737468	T	C	FREM1	c.6466A>G	NM_144966.7	NP_659403.4:p.(Arg2156Gly)	NC_000009.11:g.14737468T>C	VUS	1 lab	70576367ef
1:74737283 TNNI3K A>T	1	74737283	74737283	A	T	TNNI3K	c.335A>T	NM_015978.3	NP_057062.1:p.(Asp112Val)	NC_000001.10:g.74737283A>T	(Likely) benign	1 lab	7057a2b57e
1:237794782 RYR2 G>C	1	237794782	237794782	G	C	RYR2	c.6496G>C	NM_001035.3	NP_001026.2:p.(Gly2166Arg)	NC_000001.10:g.237794782G>C	VUS	1 lab	706a236835
14:23857139 MYH6 G>C	14	23857139	23857139	G	C	MYH6	c.4360-7C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857139G>C	(Likely) benign	1 lab	706bcf9d48
18:29101067 DSG2 A>C	18	29101067	29101067	A	C	DSG2	c.384A>C	NM_001943.5	NP_001934.2:p.(Thr128=)	NC_000018.9:g.29101067A>C	(Likely) benign	1 lab	70711d735e
6:106553629 PRDM1 A>C	6	106553629	106553629	A	C	PRDM1	c.1594A>C	NM_001198.4	NP_001189.2:p.(Lys532Gln)	NC_000006.11:g.106553629A>C	VUS	1 lab	7074cf29fd
15:42178008 SPTBN5 C>T	15	42178008	42178008	C	T	SPTBN5	c.1445G>A	NM_016642.4	NP_057726.4:p.(Arg482His)	NC_000015.9:g.42178008C>T	VUS	1 lab	7074d7c60d
1:183209508 LAMC2 G>A	1	183209508	183209508	G	A	LAMC2	c.3310G>A	NM_005562.3	NP_005553.2:p.(Gly1104Ser)	NC_000001.10:g.183209508G>A	VUS	1 lab	707661744e
6:106553045 PRDM1 C>A	6	106553045	106553045	C	A	PRDM1	c.1010C>A	NM_001198.4	NP_001189.2:p.(Pro337His)	NC_000006.11:g.106553045C>A	VUS	1 lab	708a074127
1:214184973 PROX1 C>T	1	214184973	214184973	C	T	PROX1	c.1943C>T	NM_001270616.2	NP_001257545.1:p.(Thr648Ile)	NC_000001.10:g.214184973C>T	VUS	1 lab	708a357277
11:47362687 MYBPC3 AC>A	11	47362687	47362690	AC	A	MYBPC3	c.1897+1del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362690del	(Likely) pathogenic	1 lab	708e983df4
20:34806805 EPB41L1 G>A	20	34806805	34806805	G	A	EPB41L1	c.2276G>A	NM_012156.2	NP_036288.2:p.(Ser759Asn)	NC_000020.10:g.34806805G>A	(Likely) benign	1 lab	7091178eed
17:1636934 WDR81 A>G	17	1636934	1636934	A	G	WDR81	c.4603A>G	NM_001163809.2	NP_001157281.1:p.(Met1535Val)	NC_000017.10:g.1636934A>G	(Likely) benign	1 lab	709248085e
6:42975692 PPP2R5D G>C	6	42975692	42975692	G	C	PPP2R5D	c.746G>C	NM_006245.4	NP_006236.1:p.(Ser249Thr)	NC_000006.11:g.42975692G>C	VUS	1 lab	7092f33841
5:60628154 ZSWIM6 GGCGGCGGCGGCGGCGGCGGGGGCAGCA>G	5	60628154	60628199	GGCGGCGGCGGCGGCGGCGGGGGCAGCA	G	ZSWIM6	c.74_100del	NM_020928.2	NP_065979.1:p.(Gly25_Gly33del)	NC_000005.9:g.60628173_60628199del	VUS	1 lab	70930f1519
4:155506759 FGA C>T	4	155506759	155506759	C	T	FGA	c.1822G>A	NM_000508.5	NP_000499.1:p.(Gly608Arg)	NC_000004.11:g.155506759C>T	VUS	1 lab	7096b5de17
3:4776848 ITPR1 G>C	3	4776848	4776848	G	C	ITPR1	c.5165G>C	NM_002222.7	NP_002213.5:p.(Gly1722Ala)	NC_000003.11:g.4776848G>C	VUS	1 lab	70975f638c
14:50713900 L2HGDH G>C	14	50713900	50713900	G	C	L2HGDH	c.1268C>G	NM_024884.3	NP_079160.1:p.(Ala423Gly)	NC_000014.8:g.50713900G>C	VUS	1 lab	7098dfe1f1
21:34925655 SON T>C	21	34925655	34925655	T	C	SON	c.4118T>C	NM_032195.3	NP_115571.3:p.(Val1373Ala)	NC_000021.8:g.34925655T>C	VUS	1 lab	70990fdc18
12:116420321 MED13L C>A	12	116420321	116420321	C	A	MED13L	c.5043G>T	NM_015335.5	NP_056150.1:p.(Met1681Ile)	NC_000012.11:g.116420321C>A	VUS	1 lab	709942d755
11:123509014 SCN3B G>T	11	123509014	123509014	G	T	SCN3B	c.464C>A	NM_018400.4	NP_060870.1:p.(Ser155Tyr)	NC_000011.9:g.123509014G>T	VUS	1 lab	709a8140a2
15:53907948 WDR72 G>A	15	53907948	53907948	G	A	WDR72	c.2455C>T	NM_182758.4	NP_877435.3:p.(Leu819Phe)	NC_000015.9:g.53907948G>A	(Likely) benign	1 lab	709e02707a
10:64973414 JMJD1C T>C	10	64973414	64973414	T	C	JMJD1C	c.2513A>G	NM_032776.3	NP_116165.1:p.(Gln838Arg)	NC_000010.10:g.64973414T>C	VUS	1 lab	70a0786fe0
8:70515487 SULF1 C>T	8	70515487	70515487	C	T	SULF1	c.1122C>T	NM_001128205.2	NP_001121677.1:p.(Leu374=)	NC_000008.10:g.70515487C>T	(Likely) benign	1 lab	70a1d2f955
3:139090663 COPB2 C>T	3	139090663	139090663	C	T	COPB2	c.1107G>A	NM_004766.3	NP_004757.1:p.(Val369=)	NC_000003.11:g.139090663C>T	(Likely) benign	1 lab	70a3e7238c
12:49431131 KMT2D AGCTGGTG>A	12	49431131	49431143	AGCTGGTG	A	KMT2D	c.10001_10007del	NM_003482.4	NP_003473.3:p.(Pro3334LeufsTer22)	NC_000012.11:g.49431137_49431143del	(Likely) pathogenic	1 lab	70a725d9c9
11:73785591 C2CD3 C>T	11	73785591	73785591	C	T	C2CD3	c.4658G>A	NM_015531.6	NP_056346.3:p.(Arg1553Gln)	NC_000011.9:g.73785591C>T	VUS	1 lab	70aa9006eb
4:100522828 MTTP C>T	4	100522828	100522828	C	T	MTTP	c.1301C>T	NM_000253.4	NP_000244.2:p.(Thr434Ile)	NC_000004.11:g.100522828C>T	VUS	1 lab	70ab7dc7bf
18:55336566 ATP8B1 A>G	18	55336566	55336566	A	G	ATP8B1	c.2081T>C	NM_005603.6	NP_005594.2:p.(Ile694Thr)	NC_000018.9:g.55336566A>G	VUS	1 lab	70ae8a4e89
6:32946871 BRD2 C>T	6	32946871	32946871	C	T	BRD2	c.1846C>T	NM_001199455.1	NP_001186384.1:p.(Gln616Ter)	NC_000006.11:g.32946871C>T	VUS	1 lab	70c725ea7f
3:9782566 BRPF1 C>A	3	9782566	9782566	C	A	BRPF1	c.1663C>A	NM_001003694.2	NP_001003694.1:p.(Pro555Thr)	NC_000003.11:g.9782566C>A	VUS	1 lab	70cf84a0ab
11:17757711 KCNC1 GTTC>G	11	17757711	17757720	GTTC	G	KCNC1	c.169_171del	NM_004976.4	NP_004967.1:p.(Phe57del)	NC_000011.9:g.17757718_17757720del	VUS	1 lab	70d08c284f
18:34298068 FHOD3 G>C	18	34298068	34298068	G	C	FHOD3	c.2282G>C	NM_025135.5	NP_079411.2:p.(Ser761Thr)	NC_000018.9:g.34298068G>C	VUS	1 lab	70d517f7e1
13:32911325 BRCA2 A>T	13	32911325	32911325	A	T	BRCA2	c.2833A>T	NM_000059.4	NP_000050.3:p.(Lys945Ter)	NC_000013.10:g.32911325A>T	(Likely) pathogenic	1 lab	70d6c442ef
10:104375060 SUFU C>T	10	104375060	104375060	C	T	SUFU	c.1058C>T	NM_016169.4	NP_057253.2:p.(Thr353Met)	NC_000010.10:g.104375060C>T	VUS	1 lab	70d7ba9f6c
17:39739589 KRT14 A>C	17	39739589	39739589	A	C	KRT14	c.1172T>G	NM_000526.5	NP_000517.3:p.(Met391Arg)	NC_000017.10:g.39739589A>C	VUS	1 lab	70d8cd9e8e
11:124791087 HEPACAM C>T	11	124791087	124791087	C	T	HEPACAM	c.1198G>A	NM_152722.5	NP_689935.2:p.(Val400Met)	NC_000011.9:g.124791087C>T	VUS	1 lab	70d8d0cf55
6:7585962 DSP C>G	6	7585962	7585962	C	G	DSP	c.8467C>G	NM_004415.4	NP_004406.2:p.(Pro2823Ala)	NC_000006.11:g.7585962C>G	VUS	1 lab	70dab5d529
11:77103555 PAK1 T>C	11	77103555	77103555	T	C	PAK1	c.11A>G	NM_001128620.2	NP_001122092.1:p.(Asn4Ser)	NC_000011.9:g.77103555T>C	(Likely) benign	1 lab	70dc1c52f2
13:52513303 ATP7B C>T	13	52513303	52513303	C	T	ATP7B	c.3583G>A	NM_000053.4	NP_000044.2:p.(Ala1195Thr)	NC_000013.10:g.52513303C>T	VUS	1 lab	70de0a8cd7
20:44048217 PIGT G>A	20	44048217	44048217	G	A	PIGT	c.668G>A	NM_015937.6	NP_057021.2:p.(Arg223His)	NC_000020.10:g.44048217G>A	VUS	1 lab	70e3c91a1f
6:100912557 SIM1 C>T	6	100912557	100912557	C	T	SIM1	c.-535G>A	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100912557C>T	(Likely) benign	1 lab	70e5f340eb
10:104855756 NT5C2 CA>C	10	104855756	104855757	CA	C	NT5C2	c.772-20del	NM_012229.5	NP_036361.1:p.?	NC_000010.10:g.104855757del	VUS	1 lab	70e71d4f2d
15:89858602 FANCI T>C	15	89858602	89858602	T	C	FANCI	c.3906T>C	NM_001113378.2	NP_001106849.1:p.(Gly1302=)	NC_000015.9:g.89858602T>C	(Likely) benign	1 lab	70eb678675
1:183212479 LAMC2 A>G	1	183212479	183212479	A	G	LAMC2	c.3526A>G	NM_005562.3	NP_005553.2:p.(Ile1176Val)	NC_000001.10:g.183212479A>G	VUS	1 lab	70eca90943
4:190874256 FRG1 C>T	4	190874256	190874256	C	T	FRG1	c.293C>T	NM_004477.3	NP_004468.1:p.(Thr98Met)	NC_000004.11:g.190874256C>T	(Likely) benign	1 lab	70eed1a4ad
19:619982 POLRMT G>C	19	619982	619982	G	C	POLRMT	c.2862C>G	NM_005035.4	NP_005026.3:p.(Asp954Glu)	NC_000019.9:g.619982G>C	VUS	1 lab	70f01938de
5:90001318 ADGRV1 C>G	5	90001318	90001318	C	G	ADGRV1	c.8488C>G	NM_032119.4	NP_115495.3:p.(Leu2830Val)	NC_000005.9:g.90001318C>G	VUS	1 lab	70f147f52c
4:5586577 EVC2 C>T	4	5586577	5586577	C	T	EVC2	c.2830G>A	NM_147127.5	NP_667338.3:p.(Val944Ile)	NC_000004.11:g.5586577C>T	VUS	1 lab	70fc06d19b
2:179610420 TTN ATGGAACCCT>A	2	179610420	179610429	ATGGAACCCT	A	TTN	c.16698_16706del	NM_133379.5	NP_596870.2:p.(Gly5567_His5569del)	NC_000002.11:g.179610421_179610429del	VUS	1 lab	7102592ff7
10:105803582 COL17A1 C>T	10	105803582	105803582	C	T	COL17A1	c.2434+1G>A	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105803582C>T	(Likely) pathogenic	1 lab	71044661d8
17:41246393 BRCA1 C>T	17	41246393	41246393	C	T	BRCA1	c.1155G>A	NM_007294.4	NP_009225.1:p.(Trp385Ter)	NC_000017.10:g.41246393C>T	(Likely) pathogenic	1 lab	7104b01c6e
2:169833086 ABCB11 C>T	2	169833086	169833086	C	T	ABCB11	c.1308+1G>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169833086C>T	(Likely) pathogenic	1 lab	710744b944
5:176939355 DDX41 C>T	5	176939355	176939355	C	T	DDX41	c.1589G>A	NM_016222.4	NP_057306.2:p.(Gly530Asp)	NC_000005.9:g.176939355C>T	VUS	1 lab	710757ccea
16:56388945 GNAO1 C>T	16	56388945	56388945	C	T	GNAO1	c.1045C>T	NM_020988.3	NP_066268.1:p.(Arg349Trp)	NC_000016.9:g.56388945C>T	VUS	1 lab	710cf265f2
2:189873699 COL3A1 C>T	2	189873699	189873699	C	T	COL3A1	c.3575C>T	NM_000090.4	NP_000081.2:p.(Ala1192Val)	NC_000002.11:g.189873699C>T	VUS	1 lab	710f803d10
15:42694998 CAPN3 G>A	15	42694998	42694998	G	A	CAPN3	c.1543G>A	NM_000070.3	NP_000061.1:p.(Gly515Arg)	NC_000015.9:g.42694998G>A	VUS	1 lab	71130f5537
6:157099981 ARID1B GGGCGGCGGCGGCGGCGGC>G	6	157099981	157100007	GGGCGGCGGCGGCGGCGGC	G	ARID1B	c.1176_1193del	NM_001371656.1	NP_001358585.1:p.(Gly397_Gly402del)	NC_000006.11:g.157099990_157100007del	(Likely) benign	1 lab	71149d3a31
6:7231754 RREB1 C>G	6	7231754	7231754	C	G	RREB1	c.3422C>G	NM_001003699.4	NP_001003699.1:p.(Pro1141Arg)	NC_000006.11:g.7231754C>G	(Likely) benign	1 lab	711725e1bd
21:28306854 ADAMTS5 C>T	21	28306854	28306854	C	T	ADAMTS5	c.1620G>A	NM_007038.5	NP_008969.2:p.(Thr540=)	NC_000021.8:g.28306854C>T	(Likely) benign	1 lab	71193386a6
19:41063230 SPTBN4 C>A	19	41063230	41063230	C	A	SPTBN4	c.5591C>A	NM_020971.3	NP_066022.2:p.(Pro1864His)	NC_000019.9:g.41063230C>A	VUS	1 lab	7123c5ba32
11:108099919 ATM A>G	11	108099919	108099919	A	G	ATM	c.200A>G	NM_000051.4	NP_000042.3:p.(Tyr67Cys)	NC_000011.9:g.108099919A>G	VUS	1 lab	71280450c6
X:39930265 BCOR G>C	X	39930265	39930265	G	C	BCOR	c.3199C>G	NM_017745.6	NP_060215.4:p.(Leu1067Val)	NC_000023.10:g.39930265G>C	VUS	1 lab	7128c57976
13:32910767 BRCA2 CT>C	13	32910767	32910771	CT	C	BRCA2	c.2279del	NM_000059.4	NP_000050.3:p.(Leu760TyrfsTer12)	NC_000013.10:g.32910771del	(Likely) pathogenic	1 lab	712cfd17b3
13:32910589 BRCA2 GTTAT>G	13	32910589	32910598	GTTAT	G	BRCA2	c.2103_2106del	NM_000059.4	NP_000050.3:p.(Phe701LeufsTer28)	NC_000013.10:g.32910595_32910598del	(Likely) pathogenic	1 lab	7131d53f13
6:29911203 HLA-A A>C	6	29911203	29911203	A	C	HLA-A	c.502A>C	NM_002116.8	NP_002107.3:p.(Lys168Gln)	NC_000006.11:g.29911203A>C	(Likely) benign	1 lab	7133b5df08
1:66062235 LEPR C>T	1	66062235	66062235	C	T	LEPR	c.808C>T	NM_002303.6	NP_002294.2:p.(Gln270Ter)	NC_000001.10:g.66062235C>T	(Likely) pathogenic	1 lab	7138a0b28f
16:88800074 PIEZO1 C>G	16	88800074	88800074	C	G	PIEZO1	c.2409G>C	NM_001142864.4	NP_001136336.2:p.(Gln803His)	NC_000016.9:g.88800074C>G	(Likely) benign	1 lab	713e138097
2:179442417 TTN A>ATAT	2	179442417	179442421	A	ATAT	TTN	c.68733_68735dup	NM_001267550.2	NP_001254479.2:p.(Tyr22912Ter)	NC_000002.11:g.179442419_179442421dup	(Likely) pathogenic	1 lab	7140ad0c0a
22:41548310 EP300 C>T	22	41548310	41548310	C	T	EP300	c.3098C>T	NM_001429.4	NP_001420.2:p.(Ser1033Leu)	NC_000022.10:g.41548310C>T	VUS	1 lab	714251c14d
15:43256121 UBR1 T>C	15	43256121	43256121	T	C	UBR1	c.4700+12A>G	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43256121T>C	(Likely) benign	1 lab	7143dd1a10
3:121981014 CASR G>A	3	121981014	121981014	G	A	CASR	c.1132G>A	NM_000388.4	NP_000379.3:p.(Glu378Lys)	NC_000003.11:g.121981014G>A	VUS	1 lab	714457ee7a
X:53641647 HUWE1 T>C	X	53641647	53641647	T	C	HUWE1	c.2109A>G	NM_031407.7	NP_113584.3:p.(Ser703=)	NC_000023.10:g.53641647T>C	(Likely) benign	1 lab	714514e4f7
2:191792065 GLS A>G	2	191792065	191792065	A	G	GLS	c.1282A>G	NM_014905.5	NP_055720.3:p.(Ser428Gly)	NC_000002.11:g.191792065A>G	VUS	1 lab	7147812535
16:89603171 SPG7 A>G	16	89603171	89603171	A	G	SPG7	c.1324+4127A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89603171A>G	VUS	1 lab	71487f9da5
15:89876827 POLG TTGCTGCTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGCTGCTGC	T	POLG	c.141_158del	NM_002693.3	NP_002684.1:p.(Gln50_Gln55del)	NC_000015.9:g.89876843_89876860del	VUS	1 lab	714a55194c
7:151949073 KMT2C C>A	7	151949073	151949073	C	A	KMT2C	c.1572G>T	NM_170606.3	NP_733751.2:p.(Met524Ile)	NC_000007.13:g.151949073C>A	VUS	1 lab	714b9b33ec
17:7722251 DNAH2 C>T	17	7722251	7722251	C	T	DNAH2	c.10685C>T	NM_020877.5	NP_065928.2:p.(Ala3562Val)	NC_000017.10:g.7722251C>T	VUS	1 lab	714d007667
4:5803740 EVC G>T	4	5803740	5803740	G	T	EVC	c.2368G>T	NM_153717.3	NP_714928.1:p.(Val790Leu)	NC_000004.11:g.5803740G>T	VUS	1 lab	714e556f43
2:179605291 TTN AT>A	2	179605291	179605292	AT	A	TTN	c.12668del	NM_001267550.2	NP_001254479.2:p.(His4223LeufsTer4)	NC_000002.11:g.179605292del	(Likely) pathogenic	1 lab	71582491ed
3:136035820 PCCB A>T	3	136035820	136035820	A	T	PCCB	c.1004A>T	NM_000532.5	NP_000523.2:p.(Asn335Ile)	NC_000003.11:g.136035820A>T	VUS	1 lab	715cab295e
14:29237777 FOXG1 G>A	14	29237777	29237777	G	A	FOXG1	c.1292G>A	NM_005249.5	NP_005240.3:p.(Ser431Asn)	NC_000014.8:g.29237777G>A	VUS	1 lab	715d47d80e
8:144990391 PLEC G>A	8	144990391	144990391	G	A	PLEC	c.13679C>T	NM_000445.5	NP_000436.2:p.(Ser4560Leu)	NC_000008.10:g.144990391G>A	VUS	1 lab	715e3ef399
6:87971217 ZNF292 C>T	6	87971217	87971217	C	T	ZNF292	c.7870C>T	NM_015021.3	NP_055836.1:p.(His2624Tyr)	NC_000006.11:g.87971217C>T	VUS	1 lab	7160be3856
15:40913840 KNL1 G>T	15	40913840	40913840	G	T	KNL1	c.1456G>T	NM_170589.5	NP_733468.3:p.(Ala486Ser)	NC_000015.9:g.40913840G>T	(Likely) benign	1 lab	7161928446
3:38646307 SCN5A C>G	3	38646307	38646307	C	G	SCN5A	c.1431G>C	NM_001099404.2	NP_001092874.1:p.(Lys477Asn)	NC_000003.11:g.38646307C>G	VUS	1 lab	7162cf3d7a
8:42995667 HGSNAT G>A	8	42995667	42995667	G	A	HGSNAT	c.28G>A	NM_152419.3	NP_689632.2:p.(Ala10Thr)	NC_000008.10:g.42995667G>A	VUS	1 lab	7162ef7581
2:112765973 MERTK A>G	2	112765973	112765973	A	G	MERTK	c.1881A>G	NM_006343.3	NP_006334.2:p.(Ser627=)	NC_000002.11:g.112765973A>G	(Likely) benign	1 lab	71635e0d3a
X:153578065 FLNA C>T	X	153578065	153578065	C	T	FLNA	c.7480G>A	NM_001456.4	NP_001447.2:p.(Gly2494Ser)	NC_000023.10:g.153578065C>T	(Likely) benign	1 lab	716375c81c
X:40440272 ATP6AP2 C>A	X	40440272	40440272	C	A	ATP6AP2	c.-46C>A	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40440272C>A	VUS	1 lab	71691e5f3c
17:60088127 MED13 T>C	17	60088127	60088127	T	C	MED13	c.1751A>G	NM_005121.3	NP_005112.2:p.(Gln584Arg)	NC_000017.10:g.60088127T>C	(Likely) benign	1 lab	7169ae89db
18:12363794 AFG3L2 G>GT	18	12363794	12363799	G	GT	AFG3L2	c.613dup	NM_006796.3	NP_006787.2:p.(Thr205AsnfsTer4)	NC_000018.9:g.12363799dup	(Likely) pathogenic	1 lab	719463cf83
12:106903321 POLR3B T>C	12	106903321	106903321	T	C	POLR3B	c.3396T>C	NM_018082.6	NP_060552.4:p.(Asn1132=)	NC_000012.11:g.106903321T>C	(Likely) benign	1 lab	716d5dca1d
18:53070914 TCF4 G>A	18	53070914	53070914	G	A	TCF4	c.32C>T	NM_001243232.1	NP_001230161.1:p.(Ala11Val)	NC_000018.9:g.53070914G>A	(Likely) benign	1 lab	71771b2de3
11:17474787 ABCC8 AG>A	11	17474787	17474789	AG	A	ABCC8	c.1054del	NM_000352.6	NP_000343.2:p.(Ala353ProfsTer6)	NC_000011.9:g.17474789del	(Likely) pathogenic	1 lab	7177fd919a
2:179517059 TTN T>C	2	179517059	179517059	T	C	TTN	c.39143A>G	NM_001267550.2	NP_001254479.2:p.(Lys13048Arg)	NC_000002.11:g.179517059T>C	VUS	1 lab	717c39617d
17:71197748 COG1 G>A	17	71197748	71197748	G	A	COG1	c.1782G>A	NM_018714.3	NP_061184.1:p.(Glu594=)	NC_000017.10:g.71197748G>A	(Likely) benign	1 lab	71824b66ba
6:118886718 CEP85L G>C	6	118886718	118886718	G	C	CEP85L	c.994C>G	NM_001042475.3	NP_001035940.1:p.(Arg332Gly)	NC_000006.11:g.118886718G>C	VUS	1 lab	718be3318b
X:48457202 WDR13 C>T	X	48457202	48457202	C	T	WDR13	c.-138C>T	NM_001166426.3	NP_001159898.1:p.?	NC_000023.10:g.48457202C>T	VUS	1 lab	718ec909a9
14:23866167 MYH6 C>T	14	23866167	23866167	C	T	MYH6	c.2168+5G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23866167C>T	VUS	1 lab	718f50cd2e
11:108168012 ATM A>T	11	108168012	108168012	A	T	ATM	c.4910-2A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108168012A>T	(Likely) pathogenic	1 lab	7191b05e9c
7:124499003 POT1 T>A	7	124499003	124499003	T	A	POT1	c.702+8A>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124499003T>A	(Likely) benign	1 lab	7195028ef8
12:111351975 MYL2 C>CGA	12	111351975	111351976	C	CGA	MYL2	c.274+14_274+15insTC	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351975_111351976insGA	(Likely) benign	1 lab	71962235ed
12:110783912 ATP2A2 G>T	12	110783912	110783912	G	T	ATP2A2	c.2848G>T	NM_001681.4	NP_001672.1:p.(Glu950Ter)	NC_000012.11:g.110783912G>T	(Likely) pathogenic	1 lab	71963ca89c
4:190878538 FRG1 A>AT	4	190878538	190878541	A	AT	FRG1	c.433-12dup	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190878541dup	(Likely) benign	1 lab	71976a5f7b
11:62293925 AHNAK C>A	11	62293925	62293925	C	A	AHNAK	c.7964G>T	NM_001620.3	NP_001611.1:p.(Gly2655Val)	NC_000011.9:g.62293925C>A	VUS	1 lab	7197f8da81
10:48389162 RBP3 G>T	10	48389162	48389162	G	T	RBP3	c.1716C>A	NM_002900.3	NP_002891.1:p.(Asn572Lys)	NC_000010.10:g.48389162G>T	VUS	1 lab	71999c663b
1:36933759 CSF3R C>T	1	36933759	36933759	C	T	CSF3R	c.1640G>A	NM_000760.4	NP_000751.1:p.(Trp547Ter)	NC_000001.10:g.36933759C>T	(Likely) pathogenic	1 lab	71a32fb5e6
7:97487730 ASNS G>A	7	97487730	97487730	G	A	ASNS	c.776-13C>T	NM_183356.4	NP_899199.2:p.?	NC_000007.13:g.97487730G>A	(Likely) benign	1 lab	71a6daddf6
3:25639964 TOP2B G>T	3	25639964	25639964	G	T	TOP2B	c.4700C>A	NM_001068.3	NP_001059.2:p.(Pro1567Gln)	NC_000003.11:g.25639964G>T	VUS	1 lab	71a827c239
6:112457383 LAMA4 G>T	6	112457383	112457383	G	T	LAMA4	c.3356C>A	NM_001105206.3	NP_001098676.2:p.(Pro1119His)	NC_000006.11:g.112457383G>T	VUS	1 lab	71adc955ee
17:41209124 BRCA1 A>C	17	41209124	41209124	A	C	BRCA1	c.5222T>G	NM_007294.4	NP_009225.1:p.(Val1741Gly)	NC_000017.10:g.41209124A>C	VUS	1 lab	71b16db3ff
5:89979527 ADGRV1 A>AT	5	89979527	89979528	A	AT	ADGRV1	c.5790dup	NM_032119.4	NP_115495.3:p.(Ile1931TyrfsTer8)	NC_000005.9:g.89979528dup	(Likely) pathogenic	1 lab	71b5df697c
2:152515683 NEB G>A	2	152515683	152515683	G	A	NEB	c.5971C>T	NM_001271208.2	NP_001258137.2:p.(His1991Tyr)	NC_000002.11:g.152515683G>A	(Likely) benign	1 lab	71b790168f
7:117149146 CFTR C>T	7	117149146	117149146	C	T	CFTR	c.223C>T	NM_000492.4	NP_000483.3:p.(Arg75Ter)	NC_000007.13:g.117149146C>T	(Likely) pathogenic	1 lab	71b915a36b
15:35084601 ACTC1 ACACT>A	15	35084601	35084608	ACACT	A	ACTC1	c.616+4_616+7del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35084605_35084608del	VUS	1 lab	71c2f35c1e
X:48672844 HDAC6 C>CA	X	48672844	48672845	C	CA	HDAC6	c.807-2dup	NM_006044.4	NP_006035.2:p.?	NC_000023.10:g.48672845dup	(Likely) benign	1 lab	71c4881d20
22:40061956 CACNA1I T>C	22	40061956	40061956	T	C	CACNA1I	c.4049T>C	NM_021096.4	NP_066919.2:p.(Met1350Thr)	NC_000022.10:g.40061956T>C	VUS	1 lab	71ce6c0537
16:630192 PIGQ G>A	16	630192	630192	G	A	PIGQ	c.1345G>A	NM_004204.5	NP_004195.2:p.(Gly449Arg)	NC_000016.9:g.630192G>A	VUS	1 lab	71d0071cf8
9:109691477 ZNF462 C>T	9	109691477	109691477	C	T	ZNF462	c.5284C>T	NM_021224.6	NP_067047.4:p.(Arg1762Trp)	NC_000009.11:g.109691477C>T	(Likely) benign	1 lab	71d620865d
1:66081719 LEPR G>C	1	66081719	66081719	G	C	LEPR	c.2024G>C	NM_002303.6	NP_002294.2:p.(Ser675Thr)	NC_000001.10:g.66081719G>C	VUS	1 lab	71e1683ebd
2:179404862 TTN A>G	2	179404862	179404862	A	G	TTN	c.98031T>C	NM_001267550.2	NP_001254479.2:p.(Ala32677=)	NC_000002.11:g.179404862A>G	(Likely) benign	1 lab	71e5a330f7
10:95161988 MYOF C>CA	10	95161988	95161989	C	CA	MYOF	c.990dup	NM_013451.4	NP_038479.1:p.(Pro331SerfsTer2)	NC_000010.10:g.95161989dup	VUS	1 lab	71e5f1dc0b
16:24582934 RBBP6 G>A	16	24582934	24582934	G	A	RBBP6	c.4547G>A	NM_006910.5	NP_008841.2:p.(Arg1516Lys)	NC_000016.9:g.24582934G>A	VUS	1 lab	71e5f4f064
1:160395103 VANGL2 G>A	1	160395103	160395103	G	A	VANGL2	c.1501G>A	NM_020335.3	NP_065068.1:p.(Glu501Lys)	NC_000001.10:g.160395103G>A	VUS	1 lab	71e857528d
1:27877443 AHDC1 C>T	1	27877443	27877443	C	T	AHDC1	c.1184G>A	NM_001029882.3	NP_001025053.1:p.(Arg395His)	NC_000001.10:g.27877443C>T	VUS	1 lab	71e96ff83e
10:16942635 CUBN G>A	10	16942635	16942635	G	A	CUBN	c.8399C>T	NM_001081.4	NP_001072.2:p.(Thr2800Ile)	NC_000010.10:g.16942635G>A	VUS	1 lab	71ec3dd08c
1:27100389 ARID1A G>A	1	27100389	27100389	G	A	ARID1A	c.4101G>A	NM_006015.6	NP_006006.3:p.(Gln1367=)	NC_000001.10:g.27100389G>A	(Likely) benign	1 lab	71f084efeb
11:118376438 KMT2A TA>T	11	118376438	118376440	TA	T	KMT2A	c.9833del	NM_001197104.2	NP_001184033.1:p.(Asn3278IlefsTer12)	NC_000011.9:g.118376440del	(Likely) pathogenic	1 lab	71f5a34c92
20:5282952 PROKR2 C>T	20	5282952	5282952	C	T	PROKR2	c.889G>A	NM_144773.4	NP_658986.1:p.(Val297Ile)	NC_000020.10:g.5282952C>T	VUS	1 lab	71fde10725
10:95552653 LGI1 T>C	10	95552653	95552653	T	C	LGI1	c.657T>C	NM_005097.4	NP_005088.1:p.(Phe219=)	NC_000010.10:g.95552653T>C	(Likely) benign	1 lab	71fe6db35b
2:179438867 TTN G>A	2	179438867	179438867	G	A	TTN	c.71992C>T	NM_001267550.2	NP_001254479.2:p.(Arg23998Cys)	NC_000002.11:g.179438867G>A	VUS	1 lab	72026fb460
11:26574788 ANO3 TTC>T	11	26574788	26574792	TTC	T	ANO3	c.1290-5_1290-4del	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26574791_26574792del	(Likely) benign	1 lab	72037769bd
2:179445221 TTN C>T	2	179445221	179445221	C	T	TTN	c.66885G>A	NM_001267550.2	NP_001254479.2:p.(Trp22295Ter)	NC_000002.11:g.179445221C>T	(Likely) pathogenic	1 lab	7204a98c2e
13:32954283 BRCA2 G>C	13	32954283	32954283	G	C	BRCA2	c.9256+1G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32954283G>C	(Likely) pathogenic	1 lab	720c852d34
2:179410391 TTN C>A	2	179410391	179410391	C	A	TTN	c.95446G>T	NM_001267550.2	NP_001254479.2:p.(Glu31816Ter)	NC_000002.11:g.179410391C>A	(Likely) pathogenic	1 lab	720cfce51a
17:73752603 ITGB4 G>A	17	73752603	73752603	G	A	ITGB4	c.4592G>A	NM_001005731.3	NP_001005731.1:p.(Arg1531Gln)	NC_000017.10:g.73752603G>A	VUS	1 lab	721848bb26
X:64958865 MSN C>G	X	64958865	64958865	C	G	MSN	c.1378C>G	NM_002444.3	NP_002435.1:p.(Arg460Gly)	NC_000023.10:g.64958865C>G	VUS	1 lab	72a5ca9953
9:108397387 FKTN C>A	9	108397387	108397387	C	A	FKTN	c.1228C>A	NM_001079802.2	NP_001073270.1:p.(His410Asn)	NC_000009.11:g.108397387C>A	VUS	1 lab	721dfbadf8
7:117267699 CFTR G>A	7	117267699	117267699	G	A	CFTR	c.3592G>A	NM_000492.4	NP_000483.3:p.(Val1198Met)	NC_000007.13:g.117267699G>A	VUS	1 lab	721e013caf
10:115412862 NRAP C>T	10	115412862	115412862	C	T	NRAP	c.466-64G>A	NM_001261463.2	NP_001248392.1:p.?	NC_000010.10:g.115412862C>T	VUS	1 lab	721ed70e3d
X:79932535 BRWD3 C>T	X	79932535	79932535	C	T	BRWD3	c.4982G>A	NM_153252.5	NP_694984.5:p.(Gly1661Glu)	NC_000023.10:g.79932535C>T	VUS	1 lab	72204d4293
7:100281941 GIGYF1 C>T	7	100281941	100281941	C	T	GIGYF1	c.1649G>A	NM_001375765.1	NP_001362694.1:p.(Arg550Gln)	NC_000007.13:g.100281941C>T	VUS	1 lab	722396578a
3:136088038 STAG1 G>A	3	136088038	136088038	G	A	STAG1	c.2457C>T	NM_005862.3	NP_005853.2:p.(Phe819=)	NC_000003.11:g.136088038G>A	(Likely) benign	1 lab	72251f9f2a
12:122808813 CLIP1 A>G	12	122808813	122808813	A	G	CLIP1	c.3227T>C	NM_001389291.1	NP_001376220.1:p.(Leu1076Ser)	NC_000012.11:g.122808813A>G	VUS	1 lab	7226c72437
7:27135314 HOXA1 C>T	7	27135314	27135314	C	T	HOXA1	c.218G>A	NM_005522.5	NP_005513.2:p.(Arg73His)	NC_000007.13:g.27135314C>T	(Likely) benign	1 lab	723321b6d0
21:47754524 PCNT GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAA>G	21	47754524	47754575	GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAA	G	PCNT	c.494_532del	NM_006031.6	NP_006022.3:p.(Pro165_His177del)	NC_000021.8:g.47754537_47754575del	VUS	1 lab	72415c2754
19:15289998 NOTCH3 C>G	19	15289998	15289998	C	G	NOTCH3	c.3556G>C	NM_000435.3	NP_000426.2:p.(Val1186Leu)	NC_000019.9:g.15289998C>G	VUS	1 lab	7242e2ce57
4:114277503 ANK2 G>A	4	114277503	114277503	G	A	ANK2	c.7729G>A	NM_001148.6	NP_001139.3:p.(Gly2577Arg)	NC_000004.11:g.114277503G>A	(Likely) benign	1 lab	7244526fe1
X:92927337 NAP1L3 C>T	X	92927337	92927337	C	T	NAP1L3	c.967G>A	NM_004538.6	NP_004529.2:p.(Asp323Asn)	NC_000023.10:g.92927337C>T	VUS	1 lab	724b4f5637
2:218712886 TNS1 G>GGCTGCT	2	218712886	218712915	G	GGCTGCT	TNS1	c.1973_1978dup	NM_022648.7	NP_072174.3:p.(Gln658_Gln659dup)	NC_000002.11:g.218712910_218712915dup	(Likely) benign	1 lab	725bf56f51
5:145519765 LARS1 A>T	5	145519765	145519765	A	T	LARS1	c.2148+2T>A	NM_020117.11	NP_064502.9:p.?	NC_000005.9:g.145519765A>T	(Likely) pathogenic	1 lab	725c53c7d2
5:61659680 KIF2A C>T	5	61659680	61659680	C	T	KIF2A	c.1421C>T	NM_001098511.3	NP_001091981.1:p.(Thr474Ile)	NC_000005.9:g.61659680C>T	VUS	1 lab	7260c89146
11:22239854 ANO5 T>C	11	22239854	22239854	T	C	ANO5	c.180+21T>C	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22239854T>C	(Likely) benign	1 lab	7269721d09
15:28261317 OCA2 T>TGA	15	28261317	28261318	T	TGA	OCA2	c.822_823insTC	NM_000275.3	NP_000266.2:p.(Thr275SerfsTer5)	NC_000015.9:g.28261317_28261318insGA	(Likely) pathogenic	1 lab	7271093e5d
11:62462197 BSCL2 C>T	11	62462197	62462197	C	T	BSCL2	c.487-14G>A	NM_001122955.4	NP_001116427.1:p.?	NC_000011.9:g.62462197C>T	(Likely) benign	1 lab	72716b9e8f
6:7231970 RREB1 C>T	6	7231970	7231970	C	T	RREB1	c.3638C>T	NM_001003699.4	NP_001003699.1:p.(Ala1213Val)	NC_000006.11:g.7231970C>T	VUS	1 lab	7276560cf9
11:19207776 CSRP3 A>T	11	19207776	19207776	A	T	CSRP3	c.401T>A	NM_003476.5	NP_003467.1:p.(Met134Lys)	NC_000011.9:g.19207776A>T	VUS	1 lab	7279edc706
22:21345980 LZTR1 C>T	22	21345980	21345980	C	T	LZTR1	c.855C>T	NM_006767.4	NP_006758.2:p.(Tyr285=)	NC_000022.10:g.21345980C>T	(Likely) benign	1 lab	727ff5240d
19:36211452 KMT2B GCCA>G	19	36211452	36211460	GCCA	G	KMT2B	c.1209_1211del	NM_014727.3	NP_055542.1:p.(Pro405del)	NC_000019.9:g.36211458_36211460del	VUS	1 lab	7280333cf5
15:51856433 DMXL2 T>C	15	51856433	51856433	T	C	DMXL2	c.389A>G	NM_001174116.3	NP_001167587.1:p.(Asp130Gly)	NC_000015.9:g.51856433T>C	VUS	1 lab	7287a87ecd
X:107437848 COL4A6 G>C	X	107437848	107437848	G	C	COL4A6	c.949-31C>G	NM_033641.4	NP_378667.1:p.?	NC_000023.10:g.107437848G>C	(Likely) benign	1 lab	72880e68ab
10:75523674 SEC24C T>C	10	75523674	75523674	T	C	SEC24C	c.1160T>C	NM_004922.4	NP_004913.2:p.(Met387Thr)	NC_000010.10:g.75523674T>C	(Likely) benign	1 lab	72887d7df7
8:11406593 BLK T>C	8	11406593	11406593	T	C	BLK	c.330T>C	NM_001715.3	NP_001706.2:p.(Ser110=)	NC_000008.10:g.11406593T>C	(Likely) benign	1 lab	728b1a8bda
9:101061562 GABBR2 T>C	9	101061562	101061562	T	C	GABBR2	c.2486A>G	NM_005458.8	NP_005449.5:p.(Asn829Ser)	NC_000009.11:g.101061562T>C	VUS	1 lab	728bc4a1fb
2:179392355 TTN C>CT	2	179392355	179392356	C	CT	TTN	c.107497dup	NM_001267550.2	NP_001254479.2:p.(Ser35833LysfsTer9)	NC_000002.11:g.179392356dup	(Likely) pathogenic	1 lab	7290058f4e
20:62045503 KCNQ2 G>T	20	62045503	62045503	G	T	KCNQ2	c.1569C>A	NM_172107.4	NP_742105.1:p.(Cys523Ter)	NC_000020.10:g.62045503G>T	(Likely) pathogenic	1 lab	72938edadb
8:104922413 RIMS2 C>T	8	104922413	104922413	C	T	RIMS2	c.1100C>T	NM_014677.5	NP_055492.3:p.(Ala367Val)	NC_000008.10:g.104922413C>T	VUS	1 lab	72940e1d78
9:32481444 RIGI T>G	9	32481444	32481444	T	G	RIGI	c.1532A>C	NM_014314.4	NP_055129.2:p.(Gln511Pro)	NC_000009.11:g.32481444T>G	VUS	1 lab	72978e4065
15:93567924 CHD2 C>T	15	93567924	93567924	C	T	CHD2	c.5476C>T	NM_001271.4	NP_001262.3:p.(Arg1826Trp)	NC_000015.9:g.93567924C>T	VUS	1 lab	729fbf786e
12:112926983 PTPN11 C>T	12	112926983	112926983	C	T	PTPN11	c.1599+4C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112926983C>T	(Likely) benign	1 lab	72a0c61ed7
19:13008519 GCDH C>A	19	13008519	13008519	C	A	GCDH	c.1085C>A	NM_000159.4	NP_000150.1:p.(Ala362Asp)	NC_000019.9:g.13008519C>A	(Likely) benign	1 lab	72a1bcad31
15:72645471 HEXA G>A	15	72645471	72645471	G	A	HEXA	c.508C>T	NM_000520.6	NP_000511.2:p.(Arg170Trp)	NC_000015.9:g.72645471G>A	(Likely) pathogenic	1 lab	72a1ec6ffa
13:26788114 RNF6 A>G	13	26788114	26788114	A	G	RNF6	c.1905T>C	NM_005977.4	NP_005968.1:p.(Cys635=)	NC_000013.10:g.26788114A>G	(Likely) benign	1 lab	72a840b8ce
9:124062146 GSN CCGCACCGCCCCGCGCCCGCGCTGCTTTG>C	9	124062146	124062177	CCGCACCGCCCCGCGCCCGCGCTGCTTTG	C	GSN	c.11_38del	NM_000177.5	NP_000168.1:p.(His4ArgfsTer86)	NC_000009.11:g.124062150_124062177del	(Likely) pathogenic	1 lab	72a9e8bad4
13:52534460 ATP7B T>C	13	52534460	52534460	T	C	ATP7B	c.1947-2A>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52534460T>C	(Likely) pathogenic	1 lab	72b5e740e5
1:243736209 AKT3 A>T	1	243736209	243736209	A	T	AKT3	c.819+19T>A	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243736209A>T	(Likely) benign	1 lab	72b612b5e0
13:102873058 FGF14 A>G	13	102873058	102873058	A	G	FGF14	c.-300-27345T>C	NM_001321931.1	NP_001308860.1:p.?	NC_000013.10:g.102873058A>G	VUS	1 lab	72b61df6e6
9:73213384 TRPM3 A>G	9	73213384	73213384	A	G	TRPM3	c.2504T>C	NM_020952.6	NP_066003.3:p.(Phe835Ser)	NC_000009.11:g.73213384A>G	VUS	1 lab	72be2a87c7
17:41244453 BRCA1 C>G	17	41244453	41244453	C	G	BRCA1	c.3095G>C	NM_007294.4	NP_009225.1:p.(Arg1032Thr)	NC_000017.10:g.41244453C>G	(Likely) benign	1 lab	72c8736e68
2:25965581 ASXL2 C>T	2	25965581	25965581	C	T	ASXL2	c.3625G>A	NM_018263.6	NP_060733.4:p.(Asp1209Asn)	NC_000002.11:g.25965581C>T	VUS	1 lab	72ca0a9bb8
2:179433070 TTN T>G	2	179433070	179433070	T	G	TTN	c.72866A>C	NM_001256850.1	NP_001243779.1:p.(Lys24289Thr)	NC_000002.11:g.179433070T>G	VUS	1 lab	72cbdb0ad3
1:111146516 KCNA2 G>A	1	111146516	111146516	G	A	KCNA2	c.889C>T	NM_004974.4	NP_004965.1:p.(Arg297Trp)	NC_000001.10:g.111146516G>A	(Likely) pathogenic	1 lab	72cdb21a78
7:21813531 DNAH11 CT>C	7	21813531	21813532	CT	C	DNAH11	c.9251del	NM_001277115.2	NP_001264044.1:p.(Leu3084ArgfsTer2)	NC_000007.13:g.21813532del	(Likely) pathogenic	1 lab	72d6830386
13:100634965 ZIC2 C>T	13	100634965	100634965	C	T	ZIC2	c.647C>T	NM_007129.5	NP_009060.2:p.(Pro216Leu)	NC_000013.10:g.100634965C>T	VUS	1 lab	72db8eaa3c
2:207008763 NDUFS1 C>A	2	207008763	207008763	C	A	NDUFS1	c.966G>T	NM_005006.7	NP_004997.4:p.(Ala322=)	NC_000002.11:g.207008763C>A	(Likely) benign	1 lab	72dee7d158
6:143091263 HIVEP2 A>G	6	143091263	143091263	A	G	HIVEP2	c.4613T>C	NM_006734.4	NP_006725.3:p.(Leu1538Pro)	NC_000006.11:g.143091263A>G	(Likely) benign	1 lab	72e2e97466
12:26634090 ITPR2 G>A	12	26634090	26634090	G	A	ITPR2	c.6097C>T	NM_002223.4	NP_002214.2:p.(Arg2033Ter)	NC_000012.11:g.26634090G>A	VUS	1 lab	72e3038805
21:46925830 COL18A1 G>A	21	46925830	46925830	G	A	COL18A1	c.3166G>A	NM_001379500.1	NP_001366429.1:p.(Glu1056Lys)	NC_000021.8:g.46925830G>A	VUS	1 lab	72e36ff96b
11:17424284 ABCC8 C>G	11	17424284	17424284	C	G	ABCC8	c.3574G>C	NM_000352.6	NP_000343.2:p.(Asp1192His)	NC_000011.9:g.17424284C>G	VUS	1 lab	72e4b98de9
7:70255576 AUTS2 G>GCCACCA	7	70255576	70255602	G	GCCACCA	AUTS2	c.3395_3400dup	NM_015570.4	NP_056385.1:p.(His1132_His1133dup)	NC_000007.13:g.70255597_70255602dup	(Likely) benign	1 lab	72e766ffa9
3:136136815 STAG1 C>T	3	136136815	136136815	C	T	STAG1	c.2109-1G>A	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136136815C>T	(Likely) pathogenic	1 lab	72efb581b6
6:43612860 RSPH9 T>G	6	43612860	43612860	T	G	RSPH9	c.25T>G	NM_152732.5	NP_689945.2:p.(Ser9Ala)	NC_000006.11:g.43612860T>G	VUS	1 lab	72f6ec0fd8
11:2186499 TH C>T	11	2186499	2186499	C	T	TH	c.1390G>A	NM_199292.3	NP_954986.2:p.(Val464Met)	NC_000011.9:g.2186499C>T	VUS	1 lab	72ff0b9a00
12:133242014 POLE G>A	12	133242014	133242014	G	A	POLE	c.2342C>T	NM_006231.4	NP_006222.2:p.(Ala781Val)	NC_000012.11:g.133242014G>A	VUS	1 lab	72ff35d46e
17:4835895 GP1BA T>C	17	4835895	4835895	T	C	GP1BA	c.-5T>C	NM_000173.7	NP_000164.5:p.?	NC_000017.10:g.4835895T>C	(Likely) benign	1 lab	7304f18339
18:21526166 LAMA3 G>T	18	21526166	21526166	G	T	LAMA3	c.9269G>T	NM_198129.4	NP_937762.2:p.(Arg3090Leu)	NC_000018.9:g.21526166G>T	VUS	1 lab	730771f511
13:21751360 MRPL57 C>G	13	21751360	21751360	C	G	MRPL57	c.305C>G	NM_024026.5	NP_076931.1:p.(Ser102Cys)	NC_000013.10:g.21751360C>G	VUS	1 lab	7309ec5c92
13:35745410 NBEA C>T	13	35745410	35745410	C	T	NBEA	c.4244C>T	NM_015678.5	NP_056493.3:p.(Thr1415Met)	NC_000013.10:g.35745410C>T	(Likely) benign	1 lab	730cfb0d63
22:21350274 LZTR1 T>C	22	21350274	21350274	T	C	LZTR1	c.2092T>C	NM_006767.4	NP_006758.2:p.(Ser698Pro)	NC_000022.10:g.21350274T>C	VUS	1 lab	730d41350e
12:52200728 SCN8A C>T	12	52200728	52200728	C	T	SCN8A	c.5458C>T	NM_001330260.2	NP_001317189.1:p.(Arg1820Ter)	NC_000012.11:g.52200728C>T	(Likely) pathogenic	1 lab	73101d9bca
17:41063466 G6PC1 T>C	17	41063466	41063466	T	C	G6PC1	c.*23T>C	NM_000151.4	NP_000142.2:p.?	NC_000017.10:g.41063466T>C	(Likely) benign	1 lab	731046f506
12:95365364 NDUFA12 G>A	12	95365364	95365364	G	A	NDUFA12	c.290C>T	NM_018838.5	NP_061326.1:p.(Pro97Leu)	NC_000012.11:g.95365364G>A	VUS	1 lab	7310b87d01
11:2181060 INS-IGF2 T>G	11	2181060	2181060	T	G	INS-IGF2	c.187+955A>C	NM_001042376.3	NP_001035835.1:p.?	NC_000011.9:g.2181060T>G	(Likely) benign	1 lab	73126afb28
10:73581633 PSAP C>CATT	10	73581633	73581634	C	CATT	PSAP	c.908_909insAAT	NM_002778.4	NP_002769.1:p.(Lys303_Lys304insMet)	NC_000010.10:g.73581633_73581634insATT	VUS	1 lab	731dd07023
19:1000524 GRIN3B C>G	19	1000524	1000524	C	G	GRIN3B	c.88C>G	NM_138690.3	NP_619635.1:p.(Leu30Val)	NC_000019.9:g.1000524C>G	VUS	1 lab	7323fd28cb
5:89985807 ADGRV1 A>G	5	89985807	89985807	A	G	ADGRV1	c.6620A>G	NM_032119.4	NP_115495.3:p.(Asn2207Ser)	NC_000005.9:g.89985807A>G	VUS	1 lab	73249e25bc
2:179614795 TTN G>A	2	179614795	179614795	G	A	TTN	c.12332C>T	NM_133379.5	NP_596870.2:p.(Thr4111Ile)	NC_000002.11:g.179614795G>A	VUS	1 lab	732627dc7b
1:154574213 ADAR T>G	1	154574213	154574213	T	G	ADAR	c.20A>C	NM_001193495.2	NP_001180424.1:p.(Lys7Thr)	NC_000001.10:g.154574213T>G	VUS	1 lab	7329b27eb1
1:224619194 WDR26 C>T	1	224619194	224619194	C	T	WDR26	c.612G>A	NM_025160.7	NP_079436.4:p.(Leu204=)	NC_000001.10:g.224619194C>T	(Likely) benign	1 lab	732a867323
2:179611478 TTN A>G	2	179611478	179611478	A	G	TTN	c.15649T>C	NM_133379.5	NP_596870.2:p.(Tyr5217His)	NC_000002.11:g.179611478A>G	VUS	1 lab	732bf9c0e1
2:73828378 ALMS1 G>A	2	73828378	73828378	G	A	ALMS1	c.11929G>A	NM_001378454.1	NP_001365383.1:p.(Val3977Met)	NC_000002.11:g.73828378G>A	VUS	1 lab	733996b6d2
16:58589426 CNOT1 G>A	16	58589426	58589426	G	A	CNOT1	c.2605C>T	NM_001265612.2	NP_001252541.1:p.(Gln869Ter)	NC_000016.9:g.58589426G>A	(Likely) pathogenic	1 lab	7339bd7405
19:57742489 AURKC C>T	19	57742489	57742489	C	T	AURKC	c.-128C>T	NM_001015878.2	NP_001015878.1:p.?	NC_000019.9:g.57742489C>T	(Likely) benign	1 lab	733cbc771a
6:31324022 HLA-B TC>T	6	31324022	31324024	TC	T	HLA-B	c.540del	NM_005514.8	NP_005505.2:p.(Arg181GlufsTer33)	NC_000006.11:g.31324024del	(Likely) benign	1 lab	73409d6351
5:41803250 OXCT1 C>T	5	41803250	41803250	C	T	OXCT1	c.971G>A	NM_000436.4	NP_000427.1:p.(Gly324Glu)	NC_000005.9:g.41803250C>T	(Likely) pathogenic	1 lab	7340eccc04
18:28605748 DSC3 C>T	18	28605748	28605748	C	T	DSC3	c.608G>A	NM_024423.4	NP_077741.2:p.(Arg203His)	NC_000018.9:g.28605748C>T	VUS	1 lab	734142d04d
11:64975532 CAPN1 C>T	11	64975532	64975532	C	T	CAPN1	c.1612C>T	NM_001198868.2	NP_001185797.1:p.(Leu538Phe)	NC_000011.9:g.64975532C>T	VUS	1 lab	7342c373f6
1:116926702 ATP1A1 A>C	1	116926702	116926702	A	C	ATP1A1	c.79A>C	NM_000701.8	NP_000692.2:p.(Lys27Gln)	NC_000001.10:g.116926702A>C	VUS	1 lab	734a44ed00
8:61778383 CHD7 T>G	8	61778383	61778383	T	G	CHD7	c.8885T>G	NM_017780.4	NP_060250.2:p.(Leu2962Arg)	NC_000008.10:g.61778383T>G	VUS	1 lab	734a4fe02f
22:40749072 ADSL C>T	22	40749072	40749072	C	T	ADSL	c.358-5C>T	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40749072C>T	(Likely) benign	1 lab	7351961b84
6:133802594 EYA4 T>C	6	133802594	133802594	T	C	EYA4	c.971-7T>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133802594T>C	(Likely) benign	1 lab	735c28141b
2:152422076 NEB C>G	2	152422076	152422076	C	G	NEB	c.18305G>C	NM_001271208.2	NP_001258137.2:p.(Arg6102Thr)	NC_000002.11:g.152422076C>G	(Likely) benign	1 lab	735e8e250e
6:73905004 KCNQ5 CA>C	6	73905004	73905005	CA	C	KCNQ5	c.2724del	NM_001160133.2	NP_001153605.1:p.(Pro909ArgfsTer14)	NC_000006.11:g.73905005del	VUS	1 lab	735fd0e1e4
8:10583684 SOX7 G>T	8	10583684	10583684	G	T	SOX7	c.731C>A	NM_031439.4	NP_113627.1:p.(Pro244Gln)	NC_000008.10:g.10583684G>T	VUS	1 lab	73686a9ead
X:53566675 HUWE1 T>C	X	53566675	53566675	T	C	HUWE1	c.11575A>G	NM_031407.7	NP_113584.3:p.(Met3859Val)	NC_000023.10:g.53566675T>C	VUS	1 lab	736d38dee7
2:179500703 TTN G>T	2	179500703	179500703	G	T	TTN	c.41595C>A	NM_001267550.2	NP_001254479.2:p.(Cys13865Ter)	NC_000002.11:g.179500703G>T	(Likely) pathogenic	1 lab	736d52745d
14:24620380 RNF31 C>T	14	24620380	24620380	C	T	RNF31	c.1529C>T	NM_017999.5	NP_060469.4:p.(Ser510Leu)	NC_000014.8:g.24620380C>T	VUS	1 lab	736f39dedc
5:71492952 MAP1B C>T	5	71492952	71492952	C	T	MAP1B	c.3770C>T	NM_005909.5	NP_005900.2:p.(Pro1257Leu)	NC_000005.9:g.71492952C>T	VUS	1 lab	737102d411
2:179582948 TTN T>A	2	179582948	179582948	T	A	TTN	c.24785A>T	NM_001267550.2	NP_001254479.2:p.(Glu8262Val)	NC_000002.11:g.179582948T>A	VUS	1 lab	7371276ea2
11:108213973 ATM G>A	11	108213973	108213973	G	A	ATM	c.8293G>A	NM_000051.4	NP_000042.3:p.(Gly2765Ser)	NC_000011.9:g.108213973G>A	(Likely) pathogenic	1 lab	7374dacda5
20:42788930 JPH2 A>G	20	42788930	42788930	A	G	JPH2	c.497T>C	NM_020433.5	NP_065166.2:p.(Leu166Pro)	NC_000020.10:g.42788930A>G	(Likely) pathogenic	1 lab	737878efee
3:9512153 SETD5 G>A	3	9512153	9512153	G	A	SETD5	c.2735G>A	NM_001080517.3	NP_001073986.1:p.(Arg912Gln)	NC_000003.11:g.9512153G>A	(Likely) benign	1 lab	7379075ff8
12:121435342 HNF1A C>T	12	121435342	121435342	C	T	HNF1A	c.1375C>T	NM_000545.8	NP_000536.6:p.(Leu459=)	NC_000012.11:g.121435342C>T	(Likely) benign	1 lab	7384d26b25
X:153788776 IKBKG T>G	X	153788776	153788776	T	G	IKBKG	c.671+2T>G	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153788776T>G	(Likely) pathogenic	1 lab	7385aa10a4
11:108380369 EXPH5 C>T	11	108380369	108380369	C	T	EXPH5	c.5865G>A	NM_015065.3	NP_055880.2:p.(Pro1955=)	NC_000011.9:g.108380369C>T	(Likely) benign	1 lab	738763239d
7:150644471 KCNH2 GC>G	7	150644471	150644473	GC	G	KCNH2	c.3096del	NM_000238.4	NP_000229.1:p.(Arg1033GlyfsTer24)	NC_000007.13:g.150644473del	(Likely) pathogenic	1 lab	738eaa1d63
17:39739524 KRT14 C>G	17	39739524	39739524	C	G	KRT14	c.1237G>C	NM_000526.5	NP_000517.3:p.(Ala413Pro)	NC_000017.10:g.39739524C>G	(Likely) pathogenic	1 lab	7394ca99ae
16:65016144 CDH11 T>C	16	65016144	65016144	T	C	CDH11	c.1060A>G	NM_001797.4	NP_001788.2:p.(Ile354Val)	NC_000016.9:g.65016144T>C	VUS	1 lab	73999cba24
11:111782330 CRYAB G>A	11	111782330	111782330	G	A	CRYAB	c.119C>T	NM_001885.3	NP_001876.1:p.(Thr40Met)	NC_000011.9:g.111782330G>A	VUS	1 lab	739c99f428
2:179428058 TTN G>A	2	179428058	179428058	G	A	TTN	c.82801C>T	NM_001267550.2	NP_001254479.2:p.(Pro27601Ser)	NC_000002.11:g.179428058G>A	VUS	1 lab	73a080fa7b
3:148859084 HPS3 G>A	3	148859084	148859084	G	A	HPS3	c.887G>A	NM_032383.5	NP_115759.2:p.(Arg296His)	NC_000003.11:g.148859084G>A	VUS	1 lab	73a3d38c63
5:71403533 MAP1B A>G	5	71403533	71403533	A	G	MAP1B	c.175A>G	NM_005909.5	NP_005900.2:p.(Ile59Val)	NC_000005.9:g.71403533A>G	(Likely) benign	1 lab	73ac5c881e
10:5011015 AKR1C1 C>A	10	5011015	5011015	C	A	AKR1C1	c.449C>A	NM_001353.6	NP_001344.2:p.(Ala150Asp)	NC_000010.10:g.5011015C>A	VUS	1 lab	73ae3eef98
15:101606148 LRRK1 AC>A	15	101606148	101606149	AC	A	LRRK1	c.5507del	NM_024652.6	NP_078928.3:p.(Thr1836MetfsTer60)	NC_000015.9:g.101606149del	(Likely) pathogenic	1 lab	73ae5d5bc2
17:41249268 BRCA1 A>G	17	41249268	41249268	A	G	BRCA1	c.586T>C	NM_007294.4	NP_009225.1:p.(Tyr196His)	NC_000017.10:g.41249268A>G	VUS	1 lab	73af2544b9
3:46016851 FYCO1 A>T	3	46016851	46016851	A	T	FYCO1	c.289-14T>A	NM_024513.4	NP_078789.2:p.?	NC_000003.11:g.46016851A>T	(Likely) benign	1 lab	73bc14e967
15:93482851 CHD2 C>T	15	93482851	93482851	C	T	CHD2	c.595C>T	NM_001271.4	NP_001262.3:p.(Arg199Cys)	NC_000015.9:g.93482851C>T	(Likely) benign	1 lab	73bd4dc5e6
11:125887216 CDON G>C	11	125887216	125887216	G	C	CDON	c.695C>G	NM_016952.5	NP_058648.4:p.(Ala232Gly)	NC_000011.9:g.125887216G>C	VUS	1 lab	73c5162ffa
7:92147470 PEX1 T>G	7	92147470	92147470	T	G	PEX1	c.457A>C	NM_000466.3	NP_000457.1:p.(Ile153Leu)	NC_000007.13:g.92147470T>G	VUS	1 lab	73c74bada9
17:73945966 ACOX1 T>G	17	73945966	73945966	T	G	ACOX1	c.1311A>C	NM_004035.7	NP_004026.2:p.(Lys437Asn)	NC_000017.10:g.73945966T>G	VUS	1 lab	73cc703b12
2:179490050 TTN AC>A	2	179490050	179490051	AC	A	TTN	c.44497del	NM_001267550.2	NP_001254479.2:p.(Val14833SerfsTer3)	NC_000002.11:g.179490051del	(Likely) pathogenic	1 lab	73d3f6d780
12:50501542 GPD1 C>T	12	50501542	50501542	C	T	GPD1	c.805C>T	NM_005276.4	NP_005267.2:p.(Arg269Trp)	NC_000012.11:g.50501542C>T	VUS	1 lab	73d4538ef3
11:644597 DEAF1 C>G	11	644597	644597	C	G	DEAF1	c.1651G>C	NM_021008.4	NP_066288.2:p.(Asp551His)	NC_000011.9:g.644597C>G	VUS	1 lab	73d4e22468
17:3397702 ASPA C>A	17	3397702	3397702	C	A	ASPA	c.693C>A	NM_000049.4	NP_000040.1:p.(Tyr231Ter)	NC_000017.10:g.3397702C>A	(Likely) pathogenic	1 lab	73d6787548
3:100016789 TBC1D23 G>C	3	100016789	100016789	G	C	TBC1D23	c.899G>C	NM_001199198.3	NP_001186127.1:p.(Ser300Thr)	NC_000003.11:g.100016789G>C	VUS	1 lab	73d978b9bb
6:146708066 GRM1 C>T	6	146708066	146708066	C	T	GRM1	c.1643C>T	NM_001278064.2	NP_001264993.1:p.(Thr548Met)	NC_000006.11:g.146708066C>T	VUS	1 lab	73ddf46806
2:179612363 TTN CT>C	2	179612363	179612366	CT	C	TTN	c.14763del	NM_133379.5	NP_596870.2:p.(Asp4922ThrfsTer22)	NC_000002.11:g.179612366del	(Likely) pathogenic	1 lab	73dedcb970
10:103991381 PITX3 G>A	10	103991381	103991381	G	A	PITX3	c.285C>T	NM_005029.4	NP_005020.1:p.(Ile95=)	NC_000010.10:g.103991381G>A	(Likely) benign	1 lab	73e278faa4
6:152457929 SYNE1 G>A	6	152457929	152457929	G	A	SYNE1	c.25483C>T	NM_182961.4	NP_892006.3:p.(Arg8495Cys)	NC_000006.11:g.152457929G>A	VUS	1 lab	73e7b278df
2:48808438 STON1 T>G	2	48808438	48808438	T	G	STON1	c.666T>G	NM_001198595.2	NP_001185524.1:p.(Asn222Lys)	NC_000002.11:g.48808438T>G	VUS	1 lab	73ec355cdd
1:109801311 CELSR2 C>G	1	109801311	109801311	C	G	CELSR2	c.3568C>G	NM_001408.3	NP_001399.1:p.(Pro1190Ala)	NC_000001.10:g.109801311C>G	VUS	1 lab	73f05f4a41
5:1271291 TERT C>A	5	1271291	1271291	C	A	TERT	c.2411G>T	NM_198253.3	NP_937983.2:p.(Gly804Val)	NC_000005.9:g.1271291C>A	VUS	1 lab	73f0be4e92
7:128498088 FLNC C>A	7	128498088	128498088	C	A	FLNC	c.7807C>A	NM_001458.5	NP_001449.3:p.(Leu2603Ile)	NC_000007.13:g.128498088C>A	VUS	1 lab	73f284167c
17:41246531 BRCA1 CT>C	17	41246531	41246538	CT	C	BRCA1	c.1016del	NM_007294.4	NP_009225.1:p.(Lys339ArgfsTer2)	NC_000017.10:g.41246538del	(Likely) pathogenic	1 lab	73f3d3e75e
11:89017965 TYR G>T	11	89017965	89017965	G	T	TYR	c.1209G>T	NM_000372.5	NP_000363.1:p.(Arg403Ser)	NC_000011.9:g.89017965G>T	(Likely) pathogenic	1 lab	73f5d686a3
15:72030277 THSD4 C>G	15	72030277	72030277	C	G	THSD4	c.757C>G	NM_001286429.2	NP_001273358.1:p.(Pro253Ala)	NC_000015.9:g.72030277C>G	VUS	1 lab	74051f2527
22:41903801 ACO2 C>G	22	41903801	41903801	C	G	ACO2	c.180C>G	NM_001098.3	NP_001089.1:p.(Asn60Lys)	NC_000022.10:g.41903801C>G	(Likely) benign	1 lab	740866e507
11:64954711 CAPN1 C>A	11	64954711	64954711	C	A	CAPN1	c.785C>A	NM_001198868.2	NP_001185797.1:p.(Ala262Asp)	NC_000011.9:g.64954711C>A	VUS	1 lab	741039be60
1:52841222 ORC1 C>T	1	52841222	52841222	C	T	ORC1	c.2183G>A	NM_004153.4	NP_004144.2:p.(Arg728His)	NC_000001.10:g.52841222C>T	VUS	1 lab	7414a736c1
16:84215439 TAF1C C>G	16	84215439	84215439	C	G	TAF1C	c.947G>C	NM_005679.4	NP_005670.4:p.(Cys316Ser)	NC_000016.9:g.84215439C>G	VUS	1 lab	7414c4861f
1:91859872 HFM1 T>C	1	91859872	91859872	T	C	HFM1	c.272A>G	NM_001017975.6	NP_001017975.5:p.(Gln91Arg)	NC_000001.10:g.91859872T>C	VUS	1 lab	74153b21da
11:78381456 TENM4 G>C	11	78381456	78381456	G	C	TENM4	c.5934C>G	NM_001098816.3	NP_001092286.2:p.(Ile1978Met)	NC_000011.9:g.78381456G>C	(Likely) benign	1 lab	7423645001
10:82043759 MAT1A C>A	10	82043759	82043759	C	A	MAT1A	c.205G>T	NM_000429.3	NP_000420.1:p.(Gly69Cys)	NC_000010.10:g.82043759C>A	VUS	1 lab	742c632761
15:40313130 EIF2AK4 G>GT	15	40313130	40313131	G	GT	EIF2AK4	c.4205dup	NM_001013703.4	NP_001013725.2:p.(Ser1403LysfsTer45)	NC_000015.9:g.40313131dup	(Likely) pathogenic	1 lab	743bda5760
5:235359 SDHA A>G	5	235359	235359	A	G	SDHA	c.1165A>G	NM_004168.4	NP_004159.2:p.(Ile389Val)	NC_000005.9:g.235359A>G	VUS	1 lab	743e1a97e8
1:35227333 GJB4 C>T	1	35227333	35227333	C	T	GJB4	c.478C>T	NM_153212.3	NP_694944.1:p.(Arg160Cys)	NC_000001.10:g.35227333C>T	(Likely) benign	1 lab	743e9a9842
2:179454764 TTN A>T	2	179454764	179454764	A	T	TTN	c.61688T>A	NM_001267550.2	NP_001254479.2:p.(Ile20563Asn)	NC_000002.11:g.179454764A>T	VUS	1 lab	744075d3d8
12:116446896 MED13L G>A	12	116446896	116446896	G	A	MED13L	c.1322C>T	NM_015335.5	NP_056150.1:p.(Pro441Leu)	NC_000012.11:g.116446896G>A	VUS	1 lab	74442fd24d
18:56063436 NEDD4L G>A	18	56063436	56063436	G	A	NEDD4L	c.2803G>A	NM_015277.6	NP_056092.2:p.(Glu935Lys)	NC_000018.9:g.56063436G>A	VUS	1 lab	74471f01bc
2:109379813 RANBP2 G>T	2	109379813	109379813	G	T	RANBP2	c.2818G>T	NM_006267.5	NP_006258.3:p.(Gly940Cys)	NC_000002.11:g.109379813G>T	VUS	1 lab	744c792a3e
2:179610766 TTN C>G	2	179610766	179610766	C	G	TTN	c.16361G>C	NM_133379.5	NP_596870.2:p.(Arg5454Thr)	NC_000002.11:g.179610766C>G	VUS	1 lab	744dc24f86
13:23915086 SACS G>A	13	23915086	23915086	G	A	SACS	c.2929C>T	NM_014363.6	NP_055178.3:p.(Leu977=)	NC_000013.10:g.23915086G>A	(Likely) benign	1 lab	7450d7800e
17:36061000 HNF1B G>C	17	36061000	36061000	G	C	HNF1B	c.1522C>G	NM_000458.4	NP_000449.1:p.(Gln508Glu)	NC_000017.10:g.36061000G>C	VUS	1 lab	7453817e17
9:95480879 BICD2 A>G	9	95480879	95480879	A	G	BICD2	c.2048T>C	NM_001003800.2	NP_001003800.1:p.(Leu683Pro)	NC_000009.11:g.95480879A>G	(Likely) pathogenic	1 lab	7455bfe433
2:220355476 SPEG CGTG>C	2	220355476	220355480	CGTG	C	SPEG	c.9185_9187del	NM_005876.5	NP_005867.3:p.(Val3062del)	NC_000002.11:g.220355478_220355480del	(Likely) pathogenic	1 lab	7457bb6c1a
4:114267023 ANK2 G>A	4	114267023	114267023	G	A	ANK2	c.4249-33G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114267023G>A	(Likely) benign	1 lab	7457bc7b87
18:19399434 MIB1 GA>G	18	19399434	19399438	GA	G	MIB1	c.1678-18del	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19399438del	(Likely) benign	1 lab	7458b07035
17:40847887 CNTNAP1 A>G	17	40847887	40847887	A	G	CNTNAP1	c.3341A>G	NM_003632.3	NP_003623.1:p.(Asp1114Gly)	NC_000017.10:g.40847887A>G	VUS	1 lab	745a2937a1
6:94066539 EPHA7 G>A	6	94066539	94066539	G	A	EPHA7	c.1220C>T	NM_004440.4	NP_004431.1:p.(Ala407Val)	NC_000006.11:g.94066539G>A	VUS	1 lab	745db3ea7e
18:55351420 ATP8B1 A>G	18	55351420	55351420	A	G	ATP8B1	c.1478T>C	NM_005603.6	NP_005594.2:p.(Val493Ala)	NC_000018.9:g.55351420A>G	VUS	1 lab	746100b02c
3:170136973 CLDN11 C>T	3	170136973	170136973	C	T	CLDN11	c.119C>T	NM_005602.6	NP_005593.2:p.(Thr40Ile)	NC_000003.11:g.170136973C>T	VUS	1 lab	7462fd4b50
X:40990736 USP9X C>T	X	40990736	40990736	C	T	USP9X	c.269C>T	NM_001039590.3	NP_001034679.2:p.(Pro90Leu)	NC_000023.10:g.40990736C>T	VUS	1 lab	746bb336a3
12:6926363 CD4 T>C	12	6926363	6926363	T	C	CD4	c.486T>C	NM_001195014.3	NP_001181943.1:p.(Ser162=)	NC_000012.11:g.6926363T>C	(Likely) benign	1 lab	746d761134
18:28611061 DSC3 A>T	18	28611061	28611061	A	T	DSC3	c.232T>A	NM_024423.4	NP_077741.2:p.(Ser78Thr)	NC_000018.9:g.28611061A>T	(Likely) benign	1 lab	746e1ed0a0
22:42608103 TCF20 T>C	22	42608103	42608103	T	C	TCF20	c.3209A>G	NM_005650.4	NP_005641.1:p.(His1070Arg)	NC_000022.10:g.42608103T>C	VUS	1 lab	74782b2b46
3:52404541 DNAH1 A>G	3	52404541	52404541	A	G	DNAH1	c.6307A>G	NM_015512.5	NP_056327.4:p.(Ile2103Val)	NC_000003.11:g.52404541A>G	VUS	1 lab	7482360262
2:37265147 HEATR5B T>G	2	37265147	37265147	T	G	HEATR5B	c.3067A>C	NM_019024.3	NP_061897.1:p.(Thr1023Pro)	NC_000002.11:g.37265147T>G	VUS	1 lab	74828426eb
8:91057198 DECR1 A>G	8	91057198	91057198	A	G	DECR1	c.833A>G	NM_001330575.2	NP_001317504.1:p.(Asp278Gly)	NC_000008.10:g.91057198A>G	VUS	1 lab	7482d71d12
12:108918271 SART3 C>T	12	108918271	108918271	C	T	SART3	c.2536G>A	NM_014706.4	NP_055521.1:p.(Val846Met)	NC_000012.11:g.108918271C>T	VUS	1 lab	74880e7f55
10:43607620 RET C>T	10	43607620	43607620	C	T	RET	c.1596C>T	NM_020975.6	NP_066124.1:p.(Gly532=)	NC_000010.10:g.43607620C>T	(Likely) benign	1 lab	74928f35e7
19:45873411 ERCC2 T>C	19	45873411	45873411	T	C	ERCC2	c.85A>G	NM_000400.4	NP_000391.1:p.(Lys29Glu)	NC_000019.9:g.45873411T>C	VUS	1 lab	7492dde928
17:19645455 ALDH3A1 A>C	17	19645455	19645455	A	C	ALDH3A1	c.551T>G	NM_000691.5	NP_000682.3:p.(Ile184Ser)	NC_000017.10:g.19645455A>C	VUS	1 lab	749bd69e9b
1:39784159 MACF1 G>C	1	39784159	39784159	G	C	MACF1	c.3832G>C	NM_012090.5	NP_036222.3:p.(Gly1278Arg)	NC_000001.10:g.39784159G>C	(Likely) benign	1 lab	749e58623a
22:18901042 PRODH G>A	22	18901042	18901042	G	A	PRODH	c.1527-3C>T	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18901042G>A	(Likely) benign	1 lab	74a5b16e84
15:43360234 UBR1 CCT>C	15	43360234	43360236	CCT	C	UBR1	c.660-2_660-1del	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43360235_43360236del	(Likely) pathogenic	1 lab	74ae020da4
22:50303533 ALG12 C>G	22	50303533	50303533	C	G	ALG12	c.664+9G>C	NM_024105.4	NP_077010.1:p.?	NC_000022.10:g.50303533C>G	(Likely) benign	1 lab	74b2a6c4a4
X:128605307 SMARCA1 T>C	X	128605307	128605307	T	C	SMARCA1	c.2443-4A>G	NM_003069.5	NP_003060.2:p.?	NC_000023.10:g.128605307T>C	(Likely) benign	1 lab	74b520fd8e
19:41179366 NUMBL G>A	19	41179366	41179366	G	A	NUMBL	c.919C>T	NM_004756.5	NP_004747.1:p.(Arg307Cys)	NC_000019.9:g.41179366G>A	VUS	1 lab	74b5769ef0
15:89402051 ACAN A>G	15	89402051	89402051	A	G	ACAN	c.6235A>G	NM_013227.4	NP_037359.3:p.(Ile2079Val)	NC_000015.9:g.89402051A>G	(Likely) benign	1 lab	74b6bb6b6c
6:15497351 JARID2 A>G	6	15497351	15497351	A	G	JARID2	c.1895A>G	NM_004973.4	NP_004964.2:p.(Lys632Arg)	NC_000006.11:g.15497351A>G	(Likely) benign	1 lab	74b6ccbf4d
9:21970971 CDKN2A G>A	9	21970971	21970971	G	A	CDKN2A	c.387C>T	NM_001195132.2	NP_001182061.1:p.(Tyr129=)	NC_000009.11:g.21970971G>A	(Likely) benign	1 lab	74bf736007
19:6837061 VAV1 T>G	19	6837061	6837061	T	G	VAV1	c.1980T>G	NM_005428.4	NP_005419.2:p.(His660Gln)	NC_000019.9:g.6837061T>G	VUS	1 lab	74c4538a77
X:24861772 POLA1 G>A	X	24861772	24861772	G	A	POLA1	c.4007G>A	NM_016937.4	NP_058633.2:p.(Arg1336His)	NC_000023.10:g.24861772G>A	(Likely) benign	1 lab	74cb60ceac
10:16882533 CUBN C>T	10	16882533	16882533	C	T	CUBN	c.9828G>A	NM_001081.4	NP_001072.2:p.(Met3276Ile)	NC_000010.10:g.16882533C>T	VUS	1 lab	74cc4fad6c
22:36701982 MYH9 C>T	22	36701982	36701982	C	T	MYH9	c.2153G>A	NM_002473.6	NP_002464.1:p.(Arg718Gln)	NC_000022.10:g.36701982C>T	VUS	1 lab	74cdf598c1
6:152590340 SYNE1 C>G	6	152590340	152590340	C	G	SYNE1	c.18655G>C	NM_182961.4	NP_892006.3:p.(Ala6219Pro)	NC_000006.11:g.152590340C>G	VUS	1 lab	74d0a23393
20:33572674 MYH7B AATC>A	20	33572674	33572680	AATC	A	MYH7B	c.796_798del	NM_020884.5	NP_065935.3:p.(Ile266del)	NC_000020.10:g.33572678_33572680del	VUS	1 lab	74d581cfc1
19:11533430 ODAD3 TCTC>T	19	11533430	11533435	TCTC	T	ODAD3	c.1213_1215del	NM_145045.5	NP_659482.3:p.(Glu405del)	NC_000019.9:g.11533433_11533435del	VUS	1 lab	74d753562e
4:1809127 FGFR3 CGT>C	4	1809127	1809146	CGT	C	FGFR3	c.*156_*157del	NM_001163213.2	NP_001156685.1:p.?	NC_000004.11:g.1809145_1809146del	(Likely) benign	1 lab	74df852b0d
16:70530297 COG4 C>T	16	70530297	70530297	C	T	COG4	c.1519G>A	NM_015386.3	NP_056201.2:p.(Ala507Thr)	NC_000016.9:g.70530297C>T	VUS	1 lab	74dfd10f5c
11:62298221 AHNAK T>G	11	62298221	62298221	T	G	AHNAK	c.3668A>C	NM_001620.3	NP_001611.1:p.(Glu1223Ala)	NC_000011.9:g.62298221T>G	VUS	1 lab	74e7bf53bd
1:55505650 PCSK9 C>G	1	55505650	55505650	C	G	PCSK9	c.140C>G	NM_174936.4	NP_777596.2:p.(Ser47Cys)	NC_000001.10:g.55505650C>G	(Likely) benign	1 lab	74eb220acf
10:105799211 COL17A1 C>A	10	105799211	105799211	C	A	COL17A1	c.2888G>T	NM_000494.4	NP_000485.3:p.(Gly963Val)	NC_000010.10:g.105799211C>A	VUS	1 lab	74f18afb49
14:67787872 PALS1 A>T	14	67787872	67787872	A	T	PALS1	c.1636A>T	NM_022474.4	NP_071919.2:p.(Ile546Phe)	NC_000014.8:g.67787872A>T	VUS	1 lab	74f3a1150a
11:2940236 SLC67A1 G>A	11	2940236	2940236	G	A	SLC67A1	c.764-301G>A	NM_183233.3	NP_899056.2:p.?	NC_000011.9:g.2940236G>A	(Likely) benign	1 lab	74f471b591
5:1201862 SLC6A19 C>A	5	1201862	1201862	C	A	SLC6A19	c.97C>A	NM_001003841.3	NP_001003841.1:p.(Pro33Thr)	NC_000005.9:g.1201862C>A	VUS	1 lab	74fac3ccb1
12:105520097 WASHC4 T>C	12	105520097	105520097	T	C	WASHC4	c.995T>C	NM_015275.3	NP_056090.1:p.(Ile332Thr)	NC_000012.11:g.105520097T>C	VUS	1 lab	7505efbc26
15:41275146 INO80 C>A	15	41275146	41275146	C	A	INO80	c.4367G>T	NM_017553.3	NP_060023.1:p.(Ser1456Ile)	NC_000015.9:g.41275146C>A	VUS	1 lab	75089cad6c
X:149638516 MAMLD1 C>T	X	149638516	149638516	C	T	MAMLD1	c.671C>T	NM_005491.4	NP_005482.2:p.(Ser224Leu)	NC_000023.10:g.149638516C>T	VUS	1 lab	7509b7a870
17:78064140 CCDC40 GA>G	17	78064140	78064142	GA	G	CCDC40	c.3037del	NM_001243342.2	NP_001230271.1:p.(Thr1013GlnfsTer29)	NC_000017.10:g.78064142del	(Likely) benign	1 lab	750cac391f
5:132270090 AFF4 G>C	5	132270090	132270090	G	C	AFF4	c.667C>G	NM_014423.4	NP_055238.1:p.(Pro223Ala)	NC_000005.9:g.132270090G>C	VUS	1 lab	750cf4a92b
16:28843508 ATXN2L C>T	16	28843508	28843508	C	T	ATXN2L	c.1322-18C>T	NM_148416.3	NP_680782.1:p.?	NC_000016.9:g.28843508C>T	VUS	1 lab	75120fd058
20:50407244 SALL4 G>A	20	50407244	50407244	G	A	SALL4	c.1778C>T	NM_020436.5	NP_065169.1:p.(Pro593Leu)	NC_000020.10:g.50407244G>A	VUS	1 lab	75129714f4
6:132271959 CCN2 T>G	6	132271959	132271959	T	G	CCN2	c.240A>C	NM_001901.4	NP_001892.2:p.(Leu80=)	NC_000006.11:g.132271959T>G	(Likely) benign	1 lab	752fb62c8b
6:116441430 COL10A1 TC>T	6	116441430	116441431	TC	T	COL10A1	c.1848del	NM_000493.4	NP_000484.2:p.(Asn617MetfsTer5)	NC_000006.11:g.116441431del	(Likely) pathogenic	1 lab	75183db743
5:131719999 SLC22A5 A>G	5	131719999	131719999	A	G	SLC22A5	c.652+6A>G	NM_003060.4	NP_003051.1:p.?	NC_000005.9:g.131719999A>G	(Likely) benign	1 lab	751dd02b3e
11:111782301 CRYAB G>A	11	111782301	111782301	G	A	CRYAB	c.148C>T	NM_001885.3	NP_001876.1:p.(Arg50Trp)	NC_000011.9:g.111782301G>A	VUS	1 lab	751df1b8a0
6:157520033 ARID1B C>T	6	157520033	157520033	C	T	ARID1B	c.4351C>T	NM_001371656.1	NP_001358585.1:p.(Gln1451Ter)	NC_000006.11:g.157520033C>T	(Likely) pathogenic	1 lab	75212a0fb5
13:96293904 DZIP1 G>T	13	96293904	96293904	G	T	DZIP1	c.242C>A	NM_198968.4	NP_945319.1:p.(Ala81Glu)	NC_000013.10:g.96293904G>T	VUS	1 lab	752175a20c
9:135152543 SETX T>TAA	9	135152543	135152555	T	TAA	SETX	c.6843-6_6843-5dup	NM_001351527.2	NP_001338456.1:p.?	NC_000009.11:g.135152554_135152555dup	(Likely) benign	1 lab	838882a109
9:35658024 CCDC107 A>G	9	35658024	35658024	A	G	CCDC107				NC_000009.11:g.35658024A>G	(Likely) benign	1 lab	75217d6278
5:176638210 NSD1 G>A	5	176638210	176638210	G	A	NSD1	c.2810G>A	NM_022455.5	NP_071900.2:p.(Arg937Gln)	NC_000005.9:g.176638210G>A	VUS	1 lab	7525c5d63f
2:179396475 TTN C>T	2	179396475	179396475	C	T	TTN	c.104867G>A	NM_001267550.2	NP_001254479.2:p.(Gly34956Asp)	NC_000002.11:g.179396475C>T	VUS	1 lab	7526b66f5a
12:52844243 KRT6B A>G	12	52844243	52844243	A	G	KRT6B	c.702T>C	NM_005555.4	NP_005546.2:p.(Arg234=)	NC_000012.11:g.52844243A>G	(Likely) benign	1 lab	7530a52e23
2:219204808 PNKD GACACCC>G	2	219204808	219204815	GACACCC	G	PNKD	c.411_416del	NM_015488.5	NP_056303.3:p.(Asp137_Gln139delinsGlu)	NC_000002.11:g.219204810_219204815del	VUS	1 lab	7531903a96
17:41256183 BRCA1 G>A	17	41256183	41256183	G	A	BRCA1	c.397C>T	NM_007294.4	NP_009225.1:p.(Arg133Cys)	NC_000017.10:g.41256183G>A	(Likely) benign	1 lab	75327dc3bd
22:40055479 CACNA1I G>A	22	40055479	40055479	G	A	CACNA1I	c.2372G>A	NM_021096.4	NP_066919.2:p.(Arg791His)	NC_000022.10:g.40055479G>A	VUS	1 lab	75332d53c4
1:214817912 CENPF C>T	1	214817912	214817912	C	T	CENPF	c.4999C>T	NM_016343.4	NP_057427.3:p.(Arg1667Ter)	NC_000001.10:g.214817912C>T	(Likely) pathogenic	1 lab	753bcb0b28
5:77330263 AP3B1 A>G	5	77330263	77330263	A	G	AP3B1	c.2816T>C	NM_003664.5	NP_003655.3:p.(Leu939Pro)	NC_000005.9:g.77330263A>G	(Likely) pathogenic	1 lab	753ccb4f31
X:129150038 BCORL1 G>C	X	129150038	129150038	G	C	BCORL1	c.3290G>C	NM_021946.5	NP_068765.3:p.(Gly1097Ala)	NC_000023.10:g.129150038G>C	VUS	1 lab	753d6b7d7d
X:69255431 EDA T>G	X	69255431	69255431	T	G	EDA	c.1148T>G	NM_001399.5	NP_001390.1:p.(Ile383Ser)	NC_000023.10:g.69255431T>G	(Likely) pathogenic	1 lab	7548d2cbf9
19:1389064 NDUFS7 G>T	19	1389064	1389064	G	T	NDUFS7	c.228+127G>T	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1389064G>T	(Likely) benign	1 lab	754bb8b16c
X:18582646 CDKL5 GATAT>G	X	18582646	18582670	GATAT	G	CDKL5	c.145+25_145+28del	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18582667_18582670del	(Likely) benign	1 lab	754dca19a8
16:2161065 PKD1 G>A	16	2161065	2161065	G	A	PKD1	c.4103C>T	NM_001009944.3	NP_001009944.3:p.(Ala1368Val)	NC_000016.9:g.2161065G>A	(Likely) benign	1 lab	754e183222
19:17767034 UNC13A G>A	19	17767034	17767034	G	A	UNC13A	c.941C>T	NM_001080421.3	NP_001073890.2:p.(Ser314Leu)	NC_000019.9:g.17767034G>A	VUS	1 lab	75503b5270
3:78649293 ROBO1 T>A	3	78649293	78649293	T	A	ROBO1	c.4911A>T	NM_002941.4	NP_002932.1:p.(Glu1637Asp)	NC_000003.11:g.78649293T>A	VUS	1 lab	75534753f0
11:57427343 CLP1 G>A	11	57427343	57427343	G	A	CLP1	c.395G>A	NM_006831.3	NP_006822.1:p.(Arg132His)	NC_000011.9:g.57427343G>A	VUS	1 lab	7555093e1a
6:7585944 DSP T>G	6	7585944	7585944	T	G	DSP	c.8449T>G	NM_004415.4	NP_004406.2:p.(Tyr2817Asp)	NC_000006.11:g.7585944T>G	VUS	1 lab	7559798f15
9:738335 KANK1 G>C	9	738335	738335	G	C	KANK1	c.3384G>C	NM_015158.5	NP_055973.2:p.(Gln1128His)	NC_000009.11:g.738335G>C	VUS	1 lab	755b8ae283
17:41245039 BRCA1 CTT>C	17	41245039	41245041	CTT	C	BRCA1	c.2507_2508del	NM_007294.4	NP_009225.1:p.(Glu836GlyfsTer2)	NC_000017.10:g.41245040_41245041del	(Likely) pathogenic	1 lab	75604e30a7
19:45900091 PPP1R13L G>C	19	45900091	45900091	G	C	PPP1R13L	c.424C>G	NM_006663.4	NP_006654.2:p.(Arg142Gly)	NC_000019.9:g.45900091G>C	VUS	1 lab	7564239d1b
16:89825043 FANCA C>T	16	89825043	89825043	C	T	FANCA	c.2923G>A	NM_000135.4	NP_000126.2:p.(Gly975Arg)	NC_000016.9:g.89825043C>T	VUS	1 lab	756b37db84
7:42003945 GLI3 G>C	7	42003945	42003945	G	C	GLI3	c.4726C>G	NM_000168.6	NP_000159.3:p.(Leu1576Val)	NC_000007.13:g.42003945G>C	VUS	1 lab	756bfc6935
5:132270020 AFF4 G>A	5	132270020	132270020	G	A	AFF4	c.737C>T	NM_014423.4	NP_055238.1:p.(Ser246Phe)	NC_000005.9:g.132270020G>A	VUS	1 lab	756d1c5ae3
2:179649081 TTN A>T	2	179649081	179649081	A	T	TTN	c.2494-3T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179649081A>T	(Likely) benign	1 lab	75749403d3
7:127953296 RBM28 G>A	7	127953296	127953296	G	A	RBM28	c.2077C>T	NM_018077.3	NP_060547.2:p.(His693Tyr)	NC_000007.13:g.127953296G>A	(Likely) benign	1 lab	7578ce0472
3:52325759 GLYCTK A>G	3	52325759	52325759	A	G	GLYCTK	c.530-4A>G	NM_145262.4	NP_660305.2:p.?	NC_000003.11:g.52325759A>G	(Likely) benign	1 lab	757aba42b6
X:2856155 ARSL C>T	X	2856155	2856155	C	T	ARSL	c.1270G>A	NM_000047.3	NP_000038.2:p.(Gly424Ser)	NC_000023.10:g.2856155C>T	(Likely) benign	1 lab	757b834fac
3:170716061 SLC2A2 C>T	3	170716061	170716061	C	T	SLC2A2	c.1295G>A	NM_000340.2	NP_000331.1:p.(Arg432His)	NC_000003.11:g.170716061C>T	VUS	1 lab	757e0ff989
20:44683665 SLC12A5 G>A	20	44683665	44683665	G	A	SLC12A5	c.2787+3G>A	NM_020708.5	NP_065759.1:p.?	NC_000020.10:g.44683665G>A	(Likely) benign	1 lab	757e728da1
13:36026259 NBEA A>T	13	36026259	36026259	A	T	NBEA	c.6335A>T	NM_015678.5	NP_056493.3:p.(Lys2112Ile)	NC_000013.10:g.36026259A>T	VUS	1 lab	757ec7a468
3:4725988 ITPR1 G>T	3	4725988	4725988	G	T	ITPR1	c.3477G>T	NM_001168272.2	NP_001161744.1:p.(Lys1159Asn)	NC_000003.11:g.4725988G>T	VUS	1 lab	757f3f5c29
22:38516840 PLA2G6 C>T	22	38516840	38516840	C	T	PLA2G6	c.1668G>A	NM_003560.4	NP_003551.2:p.(Glu556=)	NC_000022.10:g.38516840C>T	(Likely) benign	1 lab	7582a8d819
17:40839993 CNTNAP1 G>A	17	40839993	40839993	G	A	CNTNAP1	c.1300G>A	NM_003632.3	NP_003623.1:p.(Ala434Thr)	NC_000017.10:g.40839993G>A	VUS	1 lab	75848bfb09
X:54020143 PHF8 C>T	X	54020143	54020143	C	T	PHF8	c.1517G>A	NM_015107.3	NP_055922.1:p.(Arg506Gln)	NC_000023.10:g.54020143C>T	VUS	1 lab	7584c45efc
1:155327419 ASH1L C>T	1	155327419	155327419	C	T	ASH1L	c.6917G>A	NM_018489.3	NP_060959.2:p.(Arg2306Gln)	NC_000001.10:g.155327419C>T	(Likely) benign	1 lab	7588900707
17:42284669 UBTF C>T	17	42284669	42284669	C	T	UBTF	c.2236G>A	NM_014233.4	NP_055048.1:p.(Glu746Lys)	NC_000017.10:g.42284669C>T	VUS	1 lab	758a8a41b0
17:48677203 CACNA1G G>A	17	48677203	48677203	G	A	CACNA1G	c.3673G>A	NM_018896.5	NP_061496.2:p.(Asp1225Asn)	NC_000017.10:g.48677203G>A	VUS	1 lab	758e260c13
13:32954054 BRCA2 C>G	13	32954054	32954054	C	G	BRCA2	c.9117+4C>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32954054C>G	(Likely) benign	1 lab	758e8a22cf
17:8192922 RANGRF C>T	17	8192922	8192922	C	T	RANGRF	c.437+16C>T	NM_016492.5	NP_057576.2:p.?	NC_000017.10:g.8192922C>T	(Likely) benign	1 lab	759741600e
X:47433994 SYN1 G>A	X	47433994	47433994	G	A	SYN1	c.1394-5C>T	NM_133499.2	NP_598006.1:p.?	NC_000023.10:g.47433994G>A	(Likely) benign	1 lab	7598a028fb
7:21641234 DNAH11 G>A	7	21641234	21641234	G	A	DNAH11	c.3646G>A	NM_001277115.2	NP_001264044.1:p.(Glu1216Lys)	NC_000007.13:g.21641234G>A	VUS	1 lab	759cac9d4d
2:166848051 SCN1A G>A	2	166848051	166848051	G	A	SCN1A	c.5734C>T	NM_001202435.3	NP_001189364.1:p.(Arg1912Ter)	NC_000002.11:g.166848051G>A	(Likely) pathogenic	1 lab	75a06540da
X:137939821 FGF13 CA>C	X	137939821	137939822	CA	C	FGF13	c.69del	NM_001139500.2	NP_001132972.1:p.(Gly24AlafsTer18)	NC_000023.10:g.137939822del	VUS	1 lab	75a07fcbe2
X:119668339 CUL4B T>C	X	119668339	119668339	T	C	CUL4B	c.2317A>G	NM_003588.4	NP_003579.3:p.(Ile773Val)	NC_000023.10:g.119668339T>C	VUS	1 lab	75a490e53a
17:18148485 FLII G>A	17	18148485	18148485	G	A	FLII	c.3744C>T	NM_001256264.2	NP_001243193.1:p.(His1248=)	NC_000017.10:g.18148485G>A	(Likely) benign	1 lab	75a667457b
17:41244649 BRCA1 TA>T	17	41244649	41244651	TA	T	BRCA1	c.2898del	NM_007294.4	NP_009225.1:p.(Thr967LeufsTer33)	NC_000017.10:g.41244651del	(Likely) pathogenic	1 lab	75a8211b1e
2:179458925 TTN G>A	2	179458925	179458925	G	A	TTN	c.58195C>T	NM_001267550.2	NP_001254479.2:p.(Arg19399Ter)	NC_000002.11:g.179458925G>A	(Likely) pathogenic	1 lab	75ad5fe0e8
5:34008100 AMACR C>T	5	34008100	34008100	C	T	AMACR	c.25G>A	NM_014324.6	NP_055139.4:p.(Val9Met)	NC_000005.9:g.34008100C>T	(Likely) benign	1 lab	75adacdfe1
17:60679466 TLK2 C>T	17	60679466	60679466	C	T	TLK2	c.1784C>T	NM_006852.6	NP_006843.2:p.(Ser595Leu)	NC_000017.10:g.60679466C>T	VUS	1 lab	75b05f85d9
5:1271334 TERT G>A	5	1271334	1271334	G	A	TERT	c.2383-15C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1271334G>A	(Likely) benign	1 lab	75b077d9ad
4:1843351 LETM1 C>T	4	1843351	1843351	C	T	LETM1	c.317G>A	NM_012318.3	NP_036450.1:p.(Arg106His)	NC_000004.11:g.1843351C>T	VUS	1 lab	75b69f160d
3:119121118 ARHGAP31 A>G	3	119121118	119121118	A	G	ARHGAP31	c.1519A>G	NM_020754.4	NP_065805.2:p.(Thr507Ala)	NC_000003.11:g.119121118A>G	VUS	1 lab	75b8d2078e
19:11095934 SMARCA4 T>C	19	11095934	11095934	T	C	SMARCA4	c.223-15T>C	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11095934T>C	(Likely) benign	1 lab	75bb4dd5ee
X:135485409 ADGRG4 C>T	X	135485409	135485409	C	T	ADGRG4	c.8582C>T	NM_153834.4	NP_722576.3:p.(Pro2861Leu)	NC_000023.10:g.135485409C>T	VUS	1 lab	75c2babdc8
13:103309439 TPP2 C>A	13	103309439	103309439	C	A	TPP2	c.2986C>A	NM_003291.4	NP_003282.2:p.(Pro996Thr)	NC_000013.10:g.103309439C>A	VUS	1 lab	75c2daacb0
1:160160767 CASQ1 G>A	1	160160767	160160767	G	A	CASQ1	c.226G>A	NM_001231.5	NP_001222.3:p.(Glu76Lys)	NC_000001.10:g.160160767G>A	(Likely) benign	1 lab	75ca481bfb
11:20622840 SLC6A5 A>G	11	20622840	20622840	A	G	SLC6A5	c.169A>G	NM_004211.5	NP_004202.4:p.(Thr57Ala)	NC_000011.9:g.20622840A>G	VUS	1 lab	75cb6c003e
4:190876195 FRG1 C>T	4	190876195	190876195	C	T	FRG1	c.321C>T	NM_004477.3	NP_004468.1:p.(Ile107=)	NC_000004.11:g.190876195C>T	(Likely) benign	1 lab	75cb81fd18
22:36661646 APOL1 G>A	22	36661646	36661646	G	A	APOL1	c.812G>A	NM_145343.2	NP_663318.1:p.(Arg271Lys)	NC_000022.10:g.36661646G>A	(Likely) benign	1 lab	75cd56803e
1:8415664 RERE C>T	1	8415664	8415664	C	T	RERE	c.4487-5G>A	NM_012102.4	NP_036234.3:p.?	NC_000001.10:g.8415664C>T	VUS	1 lab	75ce9f0729
1:226041445 TMEM63A A>G	1	226041445	226041445	A	G	TMEM63A	c.1682T>C	NM_014698.3	NP_055513.2:p.(Ile561Thr)	NC_000001.10:g.226041445A>G	VUS	1 lab	75d42288a8
5:149677352 ARSI C>T	5	149677352	149677352	C	T	ARSI	c.1135G>A	NM_001012301.4	NP_001012301.1:p.(Glu379Lys)	NC_000005.9:g.149677352C>T	VUS	1 lab	75f93e844e
X:68836236 EDA CG>C	X	68836236	68836240	CG	C	EDA	c.88del	NM_001399.5	NP_001390.1:p.(Ala30ProfsTer27)	NC_000023.10:g.68836240del	(Likely) pathogenic	1 lab	75e85007cc
17:29483109 NF1 G>A	17	29483109	29483109	G	A	NF1	c.169G>A	NM_000267.3	NP_000258.1:p.(Gly57Ser)	NC_000017.10:g.29483109G>A	VUS	1 lab	75e9180bef
5:134679038 MACROH2A1 G>A	5	134679038	134679038	G	A	MACROH2A1	c.865C>T	NM_138610.3	NP_613258.2:p.(Leu289Phe)	NC_000005.9:g.134679038G>A	VUS	1 lab	75ede5b82b
18:42530030 SETBP1 GC>G	18	42530030	42530031	GC	G	SETBP1	c.726del	NM_015559.3	NP_056374.2:p.(Arg243GlufsTer100)	NC_000018.9:g.42530031del	(Likely) pathogenic	1 lab	75f43111b8
1:39877327 MACF1 G>T	1	39877327	39877327	G	T	MACF1	c.9631-10719G>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39877327G>T	VUS	1 lab	75fbfa7e2c
X:135291560 FHL1 C>G	X	135291560	135291560	C	G	FHL1	c.689-470C>G	NM_001449.5	NP_001440.2:p.?	NC_000023.10:g.135291560C>G	VUS	1 lab	75fe8274c8
X:53409228 SMC1A C>T	X	53409228	53409228	C	T	SMC1A	c.3362G>A	NM_006306.4	NP_006297.2:p.(Arg1121His)	NC_000023.10:g.53409228C>T	(Likely) pathogenic	1 lab	760169b4eb
9:73167838 TRPM3 T>C	9	73167838	73167838	T	C	TRPM3	c.3001A>G	NM_020952.6	NP_066003.3:p.(Met1001Val)	NC_000009.11:g.73167838T>C	VUS	1 lab	7603c1480c
11:26587276 ANO3 T>C	11	26587276	26587276	T	C	ANO3	c.1447+5950T>C	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26587276T>C	(Likely) benign	1 lab	760472563e
2:233388813 PRSS56 T>G	2	233388813	233388813	T	G	PRSS56	c.1251T>G	NM_001195129.2	NP_001182058.1:p.(Pro417=)	NC_000002.11:g.233388813T>G	(Likely) benign	1 lab	76055fd15f
9:141015210 CACNA1B G>A	9	141015210	141015210	G	A	CACNA1B	c.6366G>A	NM_000718.4	NP_000709.1:p.(Ser2122=)	NC_000009.11:g.141015210G>A	VUS	1 lab	7608b6a114
X:68836394 EDA C>A	X	68836394	68836394	C	A	EDA	c.242C>A	NM_001399.5	NP_001390.1:p.(Ser81Ter)	NC_000023.10:g.68836394C>A	(Likely) pathogenic	1 lab	7608fb189d
20:42744288 JPH2 T>C	20	42744288	42744288	T	C	JPH2	c.2010+17A>G	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42744288T>C	(Likely) benign	1 lab	760baa768b
X:17394084 NHS A>ACCG	X	17394084	17394098	A	ACCG	NHS	c.216_218dup	NM_198270.4	NP_938011.1:p.(Pro73dup)	NC_000023.10:g.17394096_17394098dup	VUS	1 lab	76129199d4
18:57364510 CCBE1 G>A	18	57364510	57364510	G	A	CCBE1	c.65C>T	NM_133459.4	NP_597716.1:p.(Pro22Leu)	NC_000018.9:g.57364510G>A	VUS	1 lab	7635cff41f
3:185241938 LIPH G>T	3	185241938	185241938	G	T	LIPH	c.639C>A	NM_139248.3	NP_640341.1:p.(Tyr213Ter)	NC_000003.11:g.185241938G>T	(Likely) pathogenic	1 lab	76159f8f6f
17:39911978 JUP G>T	17	39911978	39911978	G	T	JUP	c.*18C>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39911978G>T	(Likely) benign	1 lab	7617a3e3bf
12:9268473 A2M A>C	12	9268473	9268473	A	C	A2M	c.-28T>G	NM_000014.6	NP_000005.3:p.?	NC_000012.11:g.9268473A>C	(Likely) benign	1 lab	76189687e4
4:56262374 TMEM165 A>G	4	56262374	56262374	A	G	TMEM165	c.18A>G	NM_018475.5	NP_060945.2:p.(Pro6=)	NC_000004.11:g.56262374A>G	(Likely) benign	1 lab	761ca61723
13:32937326 BRCA2 G>T	13	32937326	32937326	G	T	BRCA2	c.7987G>T	NM_000059.4	NP_000050.3:p.(Glu2663Ter)	NC_000013.10:g.32937326G>T	(Likely) pathogenic	1 lab	7620a029ac
1:209804004 LAMB3 C>T	1	209804004	209804004	C	T	LAMB3	c.899G>A	NM_000228.3	NP_000219.2:p.(Arg300Gln)	NC_000001.10:g.209804004C>T	(Likely) benign	1 lab	76249ecbb2
7:21598426 DNAH11 GT>G	7	21598426	21598427	GT	G	DNAH11	c.503del	NM_001277115.2	NP_001264044.1:p.(Val168GlyfsTer25)	NC_000007.13:g.21598427del	(Likely) pathogenic	1 lab	762aef10aa
16:71015374 HYDIN T>C	16	71015374	71015374	T	C	HYDIN	c.4430A>G	NM_001270974.2	NP_001257903.1:p.(His1477Arg)	NC_000016.9:g.71015374T>C	VUS	1 lab	762b204413
11:17414582 ABCC8 G>A	11	17414582	17414582	G	A	ABCC8	c.4702C>T	NM_000352.6	NP_000343.2:p.(Arg1568Trp)	NC_000011.9:g.17414582G>A	VUS	1 lab	762bbf4b2a
3:48604171 COL7A1 C>G	3	48604171	48604171	C	G	COL7A1	c.8227-1G>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48604171C>G	(Likely) pathogenic	1 lab	762bce08ee
20:62326270 RTEL1 C>G	20	62326270	62326270	C	G	RTEL1	c.3358C>G	NM_032957.5	NP_116575.3:p.(Leu1120Val)	NC_000020.10:g.62326270C>G	VUS	1 lab	76314880a1
7:103244829 RELN C>T	7	103244829	103244829	C	T	RELN	c.3110G>A	NM_005045.4	NP_005036.2:p.(Cys1037Tyr)	NC_000007.13:g.103244829C>T	VUS	1 lab	7636579f9c
16:89261390 CDH15 G>A	16	89261390	89261390	G	A	CDH15	c.2272G>A	NM_004933.3	NP_004924.1:p.(Asp758Asn)	NC_000016.9:g.89261390G>A	VUS	1 lab	763993b63b
1:237942001 RYR2 C>T	1	237942001	237942001	C	T	RYR2	c.11811C>T	NM_001035.3	NP_001026.2:p.(His3937=)	NC_000001.10:g.237942001C>T	(Likely) benign	1 lab	76439c9032
20:746394 SLC52A3 C>A	20	746394	746394	C	A	SLC52A3	c.25G>T	NM_033409.4	NP_212134.3:p.(Val9Phe)	NC_000020.10:g.746394C>A	VUS	1 lab	7646b159e8
X:68836322 EDA C>G	X	68836322	68836322	C	G	EDA	c.170C>G	NM_001399.5	NP_001390.1:p.(Thr57Arg)	NC_000023.10:g.68836322C>G	(Likely) pathogenic	1 lab	7648098e66
18:2666169 SMCHD1 C>T	18	2666169	2666169	C	T	SMCHD1	c.200C>T	NM_015295.3	NP_056110.2:p.(Ser67Leu)	NC_000018.9:g.2666169C>T	VUS	1 lab	764e71eec0
2:202074071 CASP10 TGCCAAGG>T	2	202074071	202074078	TGCCAAGG	T	CASP10	c.1202_1208del	NM_032977.4	NP_116759.2:p.(Cys401LeufsTer15)	NC_000002.11:g.202074072_202074078del	VUS	1 lab	764f108126
17:73035326 ATP5PD C>T	17	73035326	73035326	C	T	ATP5PD	c.332G>A	NM_006356.3	NP_006347.1:p.(Arg111Lys)	NC_000017.10:g.73035326C>T	VUS	1 lab	7651344cc2
3:148930219 CP C>T	3	148930219	148930219	C	T	CP	c.394+19G>A	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148930219C>T	(Likely) benign	1 lab	765f4def44
7:21639584 DNAH11 CT>C	7	21639584	21639586	CT	C	DNAH11	c.2849del	NM_001277115.2	NP_001264044.1:p.(Leu950CysfsTer12)	NC_000007.13:g.21639586del	(Likely) pathogenic	1 lab	76644e47d8
22:41574016 EP300 C>T	22	41574016	41574016	C	T	EP300	c.6301C>T	NM_001429.4	NP_001420.2:p.(Pro2101Ser)	NC_000022.10:g.41574016C>T	(Likely) benign	1 lab	76690c0bbb
18:21293869 LAMA3 CT>C	18	21293869	21293880	CT	C	LAMA3	c.295-4del	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21293880del	(Likely) benign	1 lab	766ac4fccb
15:51291333 AP4E1 A>G	15	51291333	51291333	A	G	AP4E1	c.2969A>G	NM_007347.5	NP_031373.2:p.(Tyr990Cys)	NC_000015.9:g.51291333A>G	VUS	1 lab	7670e5a8ba
5:140960364 DIAPH1 A>C	5	140960364	140960364	A	C	DIAPH1	c.771T>G	NM_005219.5	NP_005210.3:p.(Ile257Met)	NC_000005.9:g.140960364A>C	VUS	1 lab	7673cdeda4
16:87925430 CA5A T>C	16	87925430	87925430	T	C	CA5A	c.749A>G	NM_001739.2	NP_001730.1:p.(Glu250Gly)	NC_000016.9:g.87925430T>C	VUS	1 lab	767b6f8901
16:65022245 CDH11 C>T	16	65022245	65022245	C	T	CDH11	c.814G>A	NM_001797.4	NP_001788.2:p.(Val272Ile)	NC_000016.9:g.65022245C>T	VUS	1 lab	767fbfb652
12:52911680 KRT5 C>T	12	52911680	52911680	C	T	KRT5	c.927+1G>A	NM_000424.4	NP_000415.2:p.?	NC_000012.11:g.52911680C>T	(Likely) pathogenic	1 lab	7682d4fc45
19:42728832 ZNF526 A>G	19	42728832	42728832	A	G	ZNF526	c.277A>G	NM_133444.3	NP_597701.1:p.(Asn93Asp)	NC_000019.9:g.42728832A>G	VUS	1 lab	76842a36ea
3:78701064 ROBO1 G>C	3	78701064	78701064	G	C	ROBO1	c.2630C>G	NM_002941.4	NP_002932.1:p.(Pro877Arg)	NC_000003.11:g.78701064G>C	VUS	1 lab	768703d2d5
2:179426087 TTN G>T	2	179426087	179426087	G	T	TTN	c.84772C>A	NM_001267550.2	NP_001254479.2:p.(Gln28258Lys)	NC_000002.11:g.179426087G>T	VUS	1 lab	76897c11c6
14:99641543 BCL11B GCTC>G	14	99641543	99641570	GCTC	G	BCL11B	c.1627_1629del	NM_138576.4	NP_612808.1:p.(Glu543del)	NC_000014.8:g.99641568_99641570del	(Likely) benign	1 lab	7691580a42
14:95562650 DICER1 CCA>C	14	95562650	95562654	CCA	C	DICER1	c.4605_4606del	NM_177438.3	NP_803187.1:p.(Cys1535TrpfsTer3)	NC_000014.8:g.95562653_95562654del	(Likely) pathogenic	1 lab	7692df72a8
8:38287385 FGFR1 C>T	8	38287385	38287385	C	T	FGFR1	c.173G>A	NM_023110.3	NP_075598.2:p.(Arg58Gln)	NC_000008.10:g.38287385C>T	VUS	1 lab	7694112745
3:130686084 ATP2C1 G>C	3	130686084	130686084	G	C	ATP2C1	c.1218G>C	NM_014382.5	NP_055197.2:p.(Glu406Asp)	NC_000003.11:g.130686084G>C	(Likely) pathogenic	1 lab	7695e04364
X:2852951 ARSL G>A	X	2852951	2852951	G	A	ARSL	c.1692C>T	NM_000047.3	NP_000038.2:p.(Asn564=)	NC_000023.10:g.2852951G>A	(Likely) benign	1 lab	76963a3f1c
2:63631239 WDPCP T>A	2	63631239	63631239	T	A	WDPCP	c.1379A>T	NM_015910.7	NP_056994.3:p.(Asp460Val)	NC_000002.11:g.63631239T>A	VUS	1 lab	769db345f3
1:228526067 OBSCN G>T	1	228526067	228526067	G	T	OBSCN	c.17078G>T	NM_052843.4	NP_443075.3:p.(Arg5693Met)	NC_000001.10:g.228526067G>T	VUS	1 lab	769f21634d
2:209190519 PIKFYVE A>T	2	209190519	209190519	A	T	PIKFYVE	c.2984A>T	NM_015040.4	NP_055855.2:p.(Gln995Leu)	NC_000002.11:g.209190519A>T	(Likely) benign	1 lab	76a34810d9
17:56772483 RAD51C G>A	17	56772483	56772483	G	A	RAD51C	c.337G>A	NM_058216.3	NP_478123.1:p.(Gly113Ser)	NC_000017.10:g.56772483G>A	VUS	1 lab	76a8057408
1:153233991 LORICRIN A>ACTCTGGCGGCGG	1	153233991	153234010	A	ACTCTGGCGGCGG	LORICRIN	c.574_585dup	NM_000427.3	NP_000418.2:p.(Gly192_Gly195dup)	NC_000001.10:g.153233999_153234010dup	(Likely) benign	1 lab	76acc06556
17:78323570 RNF213 A>G	17	78323570	78323570	A	G	RNF213	c.9952A>G	NM_001256071.3	NP_001243000.2:p.(Ile3318Val)	NC_000017.10:g.78323570A>G	(Likely) benign	1 lab	76ae2980d3
2:179410268 TTN C>CA	2	179410268	179410269	C	CA	TTN	c.95568dup	NM_001267550.2	NP_001254479.2:p.(Val31857CysfsTer9)	NC_000002.11:g.179410269dup	(Likely) pathogenic	1 lab	76aec12e7f
1:27877845 AHDC1 G>A	1	27877845	27877845	G	A	AHDC1	c.782C>T	NM_001029882.3	NP_001025053.1:p.(Ala261Val)	NC_000001.10:g.27877845G>A	(Likely) benign	1 lab	76b775ee52
2:37247018 HEATR5B C>T	2	37247018	37247018	C	T	HEATR5B	c.4038G>A	NM_019024.3	NP_061897.1:p.(Val1346=)	NC_000002.11:g.37247018C>T	(Likely) benign	1 lab	76b915c757
2:48681744 PPP1R21 A>G	2	48681744	48681744	A	G	PPP1R21	c.137A>G	NM_001135629.3	NP_001129101.1:p.(Lys46Arg)	NC_000002.11:g.48681744A>G	VUS	1 lab	76bc3b9618
2:179399893 TTN C>T	2	179399893	179399893	C	T	TTN	c.101449G>A	NM_001267550.2	NP_001254479.2:p.(Glu33817Lys)	NC_000002.11:g.179399893C>T	VUS	1 lab	76bc9b9756
2:25384022 POMC C>A	2	25384022	25384022	C	A	POMC	c.732G>T	NM_001035256.3	NP_001030333.1:p.(Glu244Asp)	NC_000002.11:g.25384022C>A	VUS	1 lab	76c7346486
X:152037789 NSDHL C>T	X	152037789	152037789	C	T	NSDHL	c.*129C>T	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.152037789C>T	(Likely) benign	1 lab	76c74dddf6
12:80933652 PTPRQ T>A	12	80933652	80933652	T	A	PTPRQ	c.3083T>A	NM_001145026.2	NP_001138498.1:p.(Leu1028Ter)	NC_000012.11:g.80933652T>A	(Likely) pathogenic	1 lab	76c7a0a6da
17:59543271 TBX4 C>A	17	59543271	59543271	C	A	TBX4	c.373C>A	NM_018488.3	NP_060958.2:p.(His125Asn)	NC_000017.10:g.59543271C>A	VUS	1 lab	76cae7e66b
8:41789836 KAT6A T>C	8	41789836	41789836	T	C	KAT6A	c.5902A>G	NM_006766.5	NP_006757.2:p.(Met1968Val)	NC_000008.10:g.41789836T>C	VUS	1 lab	76d06e4c1a
3:37055984 MLH1 T>C	3	37055984	37055984	T	C	MLH1	c.739T>C	NM_000249.4	NP_000240.1:p.(Ser247Pro)	NC_000003.11:g.37055984T>C	(Likely) pathogenic	1 lab	76d083b5dd
3:48508128 TREX1 C>T	3	48508128	48508128	C	T	TREX1	c.74C>T	NM_033629.6	NP_338599.1:p.(Pro25Leu)	NC_000003.11:g.48508128C>T	VUS	1 lab	76d1b77f19
6:72892257 RIMS1 A>G	6	72892257	72892257	A	G	RIMS1	c.1083A>G	NM_014989.6	NP_055804.2:p.(Leu361=)	NC_000006.11:g.72892257A>G	(Likely) benign	1 lab	76d7d110cf
17:73723799 ITGB4 G>A	17	73723799	73723799	G	A	ITGB4	c.332G>A	NM_000213.5	NP_000204.3:p.(Arg111Gln)	NC_000017.10:g.73723799G>A	(Likely) benign	1 lab	76d7de0c54
1:8415507 RERE G>A	1	8415507	8415507	G	A	RERE	c.4639C>T	NM_012102.4	NP_036234.3:p.(His1547Tyr)	NC_000001.10:g.8415507G>A	VUS	1 lab	76dcd19b57
20:47591394 ARFGEF2 AC>A	20	47591394	47591396	AC	A	ARFGEF2	c.1759del	NM_006420.3	NP_006411.2:p.(His587ThrfsTer15)	NC_000020.10:g.47591396del	(Likely) pathogenic	1 lab	76e612307d
19:5119696 KDM4B C>T	19	5119696	5119696	C	T	KDM4B	c.1148C>T	NM_015015.3	NP_055830.1:p.(Pro383Leu)	NC_000019.9:g.5119696C>T	VUS	1 lab	76e6320325
12:7053057 ATN1 G>A	12	7053057	7053057	G	A	ATN1				NC_000012.11:g.7053057G>A	(Likely) benign	1 lab	76ebb46acf
7:127950857 RBM28 T>C	7	127950857	127950857	T	C	RBM28	c.2273A>G	NM_018077.3	NP_060547.2:p.(Asp758Gly)	NC_000007.13:g.127950857T>C	VUS	1 lab	76f4b096a4
5:178413816 GRM6 T>C	5	178413816	178413816	T	C	GRM6	c.1500+23A>G	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178413816T>C	(Likely) benign	1 lab	76f4cf6605
17:5462486 NLRP1 G>T	17	5462486	5462486	G	T	NLRP1	c.1530C>A	NM_033004.4	NP_127497.1:p.(Asn510Lys)	NC_000017.10:g.5462486G>T	VUS	1 lab	77262f0781
9:131719316 NUP188 G>A	9	131719316	131719316	G	A	NUP188	c.327+5G>A	NM_015354.3	NP_056169.1:p.?	NC_000009.11:g.131719316G>A	VUS	1 lab	77048146e0
1:201331144 TNNT2 G>A	1	201331144	201331144	G	A	TNNT2	c.586C>T	NM_001001430.3	NP_001001430.1:p.(Arg196Trp)	NC_000001.10:g.201331144G>A	(Likely) pathogenic	1 lab	77050955e2
13:32953577 BRCA2 C>T	13	32953577	32953577	C	T	BRCA2	c.8878C>T	NM_000059.4	NP_000050.3:p.(Gln2960Ter)	NC_000013.10:g.32953577C>T	(Likely) pathogenic	1 lab	7705bfafeb
2:241728667 KIF1A A>G	2	241728667	241728667	A	G	KIF1A	c.169T>C	NM_004321.8	NP_004312.2:p.(Trp57Arg)	NC_000002.11:g.241728667A>G	(Likely) pathogenic	1 lab	77064365ed
22:35734758 TOM1 G>A	22	35734758	35734758	G	A	TOM1	c.1201G>A	NM_005488.3	NP_005479.1:p.(Ala401Thr)	NC_000022.10:g.35734758G>A	(Likely) benign	1 lab	770d8a9cde
10:89726659 PTEN GT>G	10	89726659	89726688	GT	G	PTEN	c.*1459del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89726688del	(Likely) benign	1 lab	770e4fc8d1
1:94474432 ABCA4 A>G	1	94474432	94474432	A	G	ABCA4	c.5715-5T>C	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94474432A>G	(Likely) benign	1 lab	77107935cb
4:166996122 TLL1 G>C	4	166996122	166996122	G	C	TLL1	c.2281G>C	NM_012464.5	NP_036596.3:p.(Val761Leu)	NC_000004.11:g.166996122G>C	VUS	1 lab	771b4aec3d
11:117267884 CEP164 A>G	11	117267884	117267884	A	G	CEP164	c.3356A>G	NM_014956.5	NP_055771.4:p.(Gln1119Arg)	NC_000011.9:g.117267884A>G	(Likely) benign	1 lab	7720de926b
1:8416214 RERE G>C	1	8416214	8416214	G	C	RERE	c.4432C>G	NM_012102.4	NP_036234.3:p.(Pro1478Ala)	NC_000001.10:g.8416214G>C	VUS	1 lab	772593ab84
5:112151232 APC T>A	5	112151232	112151232	T	A	APC	c.875T>A	NM_000038.6	NP_000029.2:p.(Leu292Ter)	NC_000005.9:g.112151232T>A	(Likely) pathogenic	1 lab	7727d11b3b
18:28586964 DSC3 A>G	18	28586964	28586964	A	G	DSC3	c.1797T>C	NM_024423.4	NP_077741.2:p.(Pro599=)	NC_000018.9:g.28586964A>G	(Likely) benign	1 lab	772c13f8fd
16:1573864 IFT140 C>T	16	1573864	1573864	C	T	IFT140	c.3235G>A	NM_014714.4	NP_055529.2:p.(Val1079Met)	NC_000016.9:g.1573864C>T	VUS	1 lab	772c24464c
2:85777058 GGCX C>A	2	85777058	85777058	C	A	GGCX	c.2276G>T	NM_000821.7	NP_000812.2:p.(Ter759LeuextTer25)	NC_000002.11:g.85777058C>A	VUS	1 lab	772d334599
6:79708000 PHIP A>C	6	79708000	79708000	A	C	PHIP	c.1988T>G	NM_017934.7	NP_060404.4:p.(Val663Gly)	NC_000006.11:g.79708000A>C	(Likely) benign	1 lab	772d4f1016
13:110960303 COL4A2 C>T	13	110960303	110960303	C	T	COL4A2	c.44+9C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.110960303C>T	(Likely) benign	1 lab	772e02fab0
4:982862 SLC26A1 AG>A	4	982862	982864	AG	A	SLC26A1	c.1864del	NM_213613.4	NP_998778.1:p.(Leu622Ter)	NC_000004.11:g.982864del	VUS	1 lab	772e4067d3
2:179482131 TTN T>A	2	179482131	179482131	T	A	TTN	c.47681A>T	NM_001267550.2	NP_001254479.2:p.(Tyr15894Phe)	NC_000002.11:g.179482131T>A	VUS	1 lab	772ea57a5b
14:23871926 MYH6 C>T	14	23871926	23871926	C	T	MYH6	c.982G>A	NM_002471.4	NP_002462.2:p.(Glu328Lys)	NC_000014.8:g.23871926C>T	VUS	1 lab	772effe8b8
7:142651288 KEL T>C	7	142651288	142651288	T	C	KEL	c.907A>G	NM_000420.3	NP_000411.1:p.(Thr303Ala)	NC_000007.13:g.142651288T>C	VUS	1 lab	7732d67569
5:125930924 ALDH7A1 C>G	5	125930924	125930924	C	G	ALDH7A1	c.-34G>C	NM_001202404.1	NP_001189333.2:p.?	NC_000005.9:g.125930924C>G	(Likely) benign	1 lab	7733439da1
15:40477594 BUB1B G>C	15	40477594	40477594	G	C	BUB1B	c.966+14G>C	NM_001211.6	NP_001202.5:p.?	NC_000015.9:g.40477594G>C	(Likely) benign	1 lab	7733cb0d92
7:21775402 DNAH11 G>C	7	21775402	21775402	G	C	DNAH11	c.7585G>C	NM_001277115.2	NP_001264044.1:p.(Glu2529Gln)	NC_000007.13:g.21775402G>C	(Likely) benign	1 lab	7736e3119f
10:16962118 CUBN TAGACGTTGCCCCCACAGGC>T	10	16962118	16962137	TAGACGTTGCCCCCACAGGC	T	CUBN	c.6647-1_6664del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.16962119_16962137del	(Likely) pathogenic	1 lab	77376f14f4
8:126061286 WASHC5 T>A	8	126061286	126061286	T	A	WASHC5	c.2341A>T	NM_014846.4	NP_055661.3:p.(Asn781Tyr)	NC_000008.10:g.126061286T>A	VUS	1 lab	7738fa38e1
7:103244880 RELN T>TCTTGAG	7	103244880	103244888	T	TCTTGAG	RELN	c.3053_3058dup	NM_005045.4	NP_005036.2:p.(Ala1018_Gln1019dup)	NC_000007.13:g.103244883_103244888dup	VUS	1 lab	773dd46fa1
15:89386676 ACAN C>T	15	89386676	89386676	C	T	ACAN	c.848C>T	NM_013227.4	NP_037359.3:p.(Thr283Met)	NC_000015.9:g.89386676C>T	VUS	1 lab	773dd90d5c
3:52438500 BAP1 C>T	3	52438500	52438500	C	T	BAP1	c.1219G>A	NM_004656.4	NP_004647.1:p.(Asp407Asn)	NC_000003.11:g.52438500C>T	(Likely) benign	1 lab	7740dbf2a3
9:32457168 RIGI GTCCT>G	9	32457168	32457175	GTCCT	G	RIGI	c.2726_2729del	NM_014314.4	NP_055129.2:p.(Lys909ThrfsTer28)	NC_000009.11:g.32457172_32457175del	VUS	1 lab	774c83bd09
5:1212420 SLC6A19 T>C	5	1212420	1212420	T	C	SLC6A19	c.484T>C	NM_001003841.3	NP_001003841.1:p.(Tyr162His)	NC_000005.9:g.1212420T>C	VUS	1 lab	774dba57b0
2:48032166 MSH6 G>C	2	48032166	48032166	G	C	MSH6	c.3556G>C	NM_000179.3	NP_000170.1:p.(Gly1186Arg)	NC_000002.11:g.48032166G>C	VUS	1 lab	775514e360
2:179485828 TTN C>A	2	179485828	179485828	C	A	TTN	c.45616+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179485828C>A	(Likely) pathogenic	1 lab	775d0f549c
X:62917031 ARHGEF9 C>T	X	62917031	62917031	C	T	ARHGEF9	c.535G>A	NM_015185.3	NP_056000.1:p.(Glu179Lys)	NC_000023.10:g.62917031C>T	VUS	1 lab	775f536eb7
11:108192026 ATM A>G	11	108192026	108192026	A	G	ATM	c.6453-2A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108192026A>G	(Likely) pathogenic	1 lab	775ff76965
12:117013942 MAP1LC3B2 G>T	12	117013942	117013942	G	T	MAP1LC3B2	c.195G>T	NM_001085481.3	NP_001078950.1:p.(Lys65Asn)	NC_000012.11:g.117013942G>T	VUS	1 lab	7765a7c7a2
8:21978313 HR T>TG	8	21978313	21978318	T	TG	HR	c.2525dup	NM_005144.5	NP_005135.2:p.(Gly843ArgfsTer83)	NC_000008.10:g.21978318dup	(Likely) pathogenic	1 lab	7767d30742
9:140901275 CACNA1B C>T	9	140901275	140901275	C	T	CACNA1B	c.2031C>T	NM_000718.4	NP_000709.1:p.(Gly677=)	NC_000009.11:g.140901275C>T	(Likely) benign	1 lab	77687c23ed
2:179585659 TTN A>T	2	179585659	179585659	A	T	TTN	c.23087T>A	NM_001267550.2	NP_001254479.2:p.(Leu7696Ter)	NC_000002.11:g.179585659A>T	VUS	1 lab	776a829716
15:41228470 DLL4 C>T	15	41228470	41228470	C	T	DLL4	c.1285C>T	NM_019074.4	NP_061947.1:p.(Arg429Cys)	NC_000015.9:g.41228470C>T	VUS	1 lab	77714e72b1
1:181680179 CACNA1E G>T	1	181680179	181680179	G	T	CACNA1E	c.1145G>T	NM_000721.4	NP_000712.2:p.(Gly382Val)	NC_000001.10:g.181680179G>T	VUS	1 lab	7773f3f078
16:88782500 PIEZO1 C>G	16	88782500	88782500	C	G	PIEZO1	c.7157G>C	NM_001142864.4	NP_001136336.2:p.(Arg2386Pro)	NC_000016.9:g.88782500C>G	VUS	1 lab	777ac9f9e8
22:41564582 EP300 T>G	22	41564582	41564582	T	G	EP300	c.4004T>G	NM_001429.4	NP_001420.2:p.(Val1335Gly)	NC_000022.10:g.41564582T>G	VUS	1 lab	777c1f7620
13:111080930 COL4A2 C>T	13	111080930	111080930	C	T	COL4A2	c.477C>T	NM_001846.4	NP_001837.2:p.(Pro159=)	NC_000013.10:g.111080930C>T	(Likely) benign	1 lab	77813c1653
18:19378062 MIB1 C>A	18	19378062	19378062	C	A	MIB1	c.1110C>A	NM_020774.4	NP_065825.1:p.(Gly370=)	NC_000018.9:g.19378062C>A	(Likely) benign	1 lab	7786cc8b26
8:42036577 PLAT A>G	8	42036577	42036577	A	G	PLAT	c.1368T>C	NM_000930.5	NP_000921.1:p.(Ser456=)	NC_000008.10:g.42036577A>G	(Likely) benign	1 lab	7786fc678e
11:111781056 CRYAB G>A	11	111781056	111781056	G	A	CRYAB	c.319C>T	NM_001885.3	NP_001876.1:p.(Arg107Cys)	NC_000011.9:g.111781056G>A	VUS	1 lab	77875207f5
12:25362217 KRAS A>G	12	25362217	25362217	A	G	KRAS	c.*633T>C	NM_033360.4	NP_203524.1:p.?	NC_000012.11:g.25362217A>G	(Likely) benign	1 lab	778c494365
X:153688725 PLXNA3 A>G	X	153688725	153688725	A	G	PLXNA3	c.202A>G	NM_017514.5	NP_059984.3:p.(Thr68Ala)	NC_000023.10:g.153688725A>G	VUS	1 lab	778c79eaf3
21:45706968 AIRE C>T	21	45706968	45706968	C	T	AIRE	c.415C>T	NM_000383.4	NP_000374.1:p.(Arg139Ter)	NC_000021.8:g.45706968C>T	(Likely) pathogenic	1 lab	778dfe08a2
11:6631025 ILK C>T	11	6631025	6631025	C	T	ILK	c.927C>T	NM_001014795.3	NP_001014795.1:p.(His309=)	NC_000011.9:g.6631025C>T	(Likely) benign	1 lab	778f24242c
15:89398805 ACAN T>G	15	89398805	89398805	T	G	ACAN	c.2989T>G	NM_013227.4	NP_037359.3:p.(Ser997Ala)	NC_000015.9:g.89398805T>G	VUS	1 lab	7793079874
19:3902502 ATCAY C>T	19	3902502	3902502	C	T	ATCAY	c.95C>T	NM_033064.5	NP_149053.1:p.(Thr32Met)	NC_000019.9:g.3902502C>T	VUS	1 lab	7796372c4f
16:23647657 PALB2 T>C	16	23647657	23647657	T	C	PALB2	c.212-2A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23647657T>C	VUS	1 lab	779c75fccd
8:133900298 TG C>G	8	133900298	133900298	C	G	TG	c.2246C>G	NM_003235.5	NP_003226.4:p.(Ser749Cys)	NC_000008.10:g.133900298C>G	VUS	1 lab	779cf77aa3
7:87092220 ABCB4 C>T	7	87092220	87092220	C	T	ABCB4	c.140G>A	NM_018849.3	NP_061337.1:p.(Arg47Gln)	NC_000007.13:g.87092220C>T	(Likely) pathogenic	1 lab	77a1b4c9ac
5:112151240 APC A>G	5	112151240	112151240	A	G	APC	c.883A>G	NM_000038.6	NP_000029.2:p.(Ser295Gly)	NC_000005.9:g.112151240A>G	(Likely) benign	1 lab	77a9faf819
14:31495140 AP4S1 C>G	14	31495140	31495140	C	G	AP4S1	c.-72+147C>G	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31495140C>G	(Likely) benign	1 lab	77ac484495
9:73399115 TRPM3 G>A	9	73399115	73399115	G	A	TRPM3	c.595C>T	NM_020952.6	NP_066003.3:p.(Arg199Ter)	NC_000009.11:g.73399115G>A	(Likely) pathogenic	1 lab	77af05e719
1:12010523 PLOD1 C>G	1	12010523	12010523	C	G	PLOD1	c.412C>G	NM_000302.4	NP_000293.2:p.(Leu138Val)	NC_000001.10:g.12010523C>G	VUS	1 lab	77b9b24616
X:48932811 WDR45 G>A	X	48932811	48932811	G	A	WDR45	c.960C>T	NM_007075.4	NP_009006.2:p.(Asn320=)	NC_000023.10:g.48932811G>A	(Likely) benign	1 lab	77bc265888
11:22647366 FANCF G>A	11	22647366	22647366	G	A	FANCF	c.-10C>T	NM_022725.4	NP_073562.1:p.?	NC_000011.9:g.22647366G>A	(Likely) benign	1 lab	77bdf13ad7
15:51829043 DMXL2 C>T	15	51829043	51829043	C	T	DMXL2	c.1634G>A	NM_001174116.3	NP_001167587.1:p.(Arg545Gln)	NC_000015.9:g.51829043C>T	VUS	1 lab	77bf58c3d9
3:130718373 ATP2C1 G>GT	3	130718373	130718376	G	GT	ATP2C1	c.2502dup	NM_014382.5	NP_055197.2:p.(Glu835Ter)	NC_000003.11:g.130718376dup	(Likely) pathogenic	1 lab	77c0465fc4
3:71820971 PROK2 C>T	3	71820971	71820971	C	T	PROK2	c.*904G>A	NM_021935.4	NP_068754.1:p.?	NC_000003.11:g.71820971C>T	(Likely) benign	1 lab	77c3829e81
7:154461074 DPP6 C>A	7	154461074	154461074	C	A	DPP6	c.499C>A	NM_001936.5	NP_001927.3:p.(Pro167Thr)	NC_000007.13:g.154461074C>A	(Likely) benign	1 lab	77c637d906
3:58415437 PDHB C>T	3	58415437	58415437	C	T	PDHB	c.790G>A	NM_000925.4	NP_000916.2:p.(Glu264Lys)	NC_000003.11:g.58415437C>T	VUS	1 lab	77c7e5fa02
22:19340960 HIRA C>A	22	19340960	19340960	C	A	HIRA	c.2767G>T	NM_003325.4	NP_003316.3:p.(Val923Leu)	NC_000022.10:g.19340960C>A	VUS	1 lab	77c7fe2471
5:6632875 NSUN2 G>A	5	6632875	6632875	G	A	NSUN2	c.97-6C>T	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6632875G>A	(Likely) benign	1 lab	77ca9ac392
18:34326996 FHOD3 A>G	18	34326996	34326996	A	G	FHOD3	c.3605A>G	NM_025135.5	NP_079411.2:p.(His1202Arg)	NC_000018.9:g.34326996A>G	VUS	1 lab	77cc4b2940
12:31242855 DDX11 A>C	12	31242855	31242855	A	C	DDX11	c.916A>C	NM_030653.4	NP_085911.2:p.(Arg306=)	NC_000012.11:g.31242855A>C	(Likely) benign	1 lab	77cea53a8c
16:70310403 AARS1 G>C	16	70310403	70310403	G	C	AARS1	c.465C>G	NM_001605.3	NP_001596.2:p.(Ile155Met)	NC_000016.9:g.70310403G>C	VUS	1 lab	77cff6c6dc
11:108204642 ATM A>G	11	108204642	108204642	A	G	ATM	c.7957A>G	NM_001351834.2	NP_001338763.1:p.(Ile2653Val)	NC_000011.9:g.108204642A>G	VUS	1 lab	77d198de3f
16:89614435 SPG7 A>G	16	89614435	89614435	A	G	SPG7	c.1577A>G	NM_003119.4	NP_003110.1:p.(Asn526Ser)	NC_000016.9:g.89614435A>G	VUS	1 lab	77d32d9fce
13:32910486 BRCA2 C>CTGAGG	13	32910486	32910487	C	CTGAGG	BRCA2	c.1994_1995insTGAGG	NM_000059.4	NP_000050.3:p.(Ile666GlufsTer4)	NC_000013.10:g.32910486_32910487insTGAGG	(Likely) pathogenic	1 lab	77da95ba45
X:53576191 HUWE1 G>A	X	53576191	53576191	G	A	HUWE1	c.9764C>T	NM_031407.7	NP_113584.3:p.(Ser3255Leu)	NC_000023.10:g.53576191G>A	VUS	1 lab	77e393a654
6:29912326 HLA-A G>A	6	29912326	29912326	G	A	HLA-A	c.945G>A	NM_002116.8	NP_002107.3:p.(Leu315=)	NC_000006.11:g.29912326G>A	(Likely) benign	1 lab	77e48c2486
8:38003787 STAR T>C	8	38003787	38003787	T	C	STAR	c.465+20A>G	NM_000349.3	NP_000340.2:p.?	NC_000008.10:g.38003787T>C	(Likely) benign	1 lab	77e55ce25d
7:74015389 GTF2IRD1 C>A	7	74015389	74015389	C	A	GTF2IRD1	c.2693C>A	NM_016328.3	NP_057412.1:p.(Pro898His)	NC_000007.13:g.74015389C>A	VUS	1 lab	77e574fe22
X:152801788 ATP2B3 G>C	X	152801788	152801788	G	C	ATP2B3	c.83G>C	NM_021949.3	NP_068768.2:p.(Gly28Ala)	NC_000023.10:g.152801788G>C	VUS	1 lab	77e6e841ea
5:86674368 RASA1 T>A	5	86674368	86674368	T	A	RASA1	c.2487+13T>A	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86674368T>A	(Likely) benign	1 lab	77ebfe35ac
2:32366989 SPAST GTA>G	2	32366989	32366994	GTA	G	SPAST	c.1514_1515del	NM_014946.4	NP_055761.2:p.(Tyr505CysfsTer6)	NC_000002.11:g.32366993_32366994del	(Likely) pathogenic	1 lab	77ec7fcfb0
11:22279319 ANO5 A>T	11	22279319	22279319	A	T	ANO5	c.1407+19A>T	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22279319A>T	(Likely) benign	1 lab	77ede69f87
3:49459592 AMT G>A	3	49459592	49459592	G	A	AMT	c.203C>T	NM_000481.4	NP_000472.2:p.(Ser68Leu)	NC_000003.11:g.49459592G>A	VUS	1 lab	77f4d0d8f0
6:33168716 SLC39A7 G>A	6	33168716	33168716	G	A	SLC39A7	c.-307G>A	NM_006979.3	NP_008910.2:p.?	NC_000006.11:g.33168716G>A	(Likely) benign	1 lab	77f666be25
17:41247859 BRCA1 T>A	17	41247859	41247859	T	A	BRCA1	c.670+4A>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247859T>A	VUS	1 lab	77fc33ec71
17:68171827 KCNJ2 A>G	17	68171827	68171827	A	G	KCNJ2	c.647A>G	NM_000891.3	NP_000882.1:p.(Asn216Ser)	NC_000017.10:g.68171827A>G	(Likely) pathogenic	1 lab	7803febfdf
1:116243953 CASQ2 A>G	1	116243953	116243953	A	G	CASQ2	c.1109T>C	NM_001232.4	NP_001223.2:p.(Ile370Thr)	NC_000001.10:g.116243953A>G	VUS	1 lab	780b172aa0
19:1388538 NDUFS7 C>T	19	1388538	1388538	C	T	NDUFS7	c.68C>T	NM_024407.5	NP_077718.3:p.(Pro23Leu)	NC_000019.9:g.1388538C>T	(Likely) benign	1 lab	780cbc5203
2:179408624 TTN A>G	2	179408624	179408624	A	G	TTN	c.88543T>C	NM_133378.4	NP_596869.4:p.(Tyr29515His)	NC_000002.11:g.179408624A>G	VUS	1 lab	780ce8d5c9
3:172166033 GHSR G>A	3	172166033	172166033	G	A	GHSR	c.171C>T	NM_198407.2	NP_940799.1:p.(Gly57=)	NC_000003.11:g.172166033G>A	(Likely) benign	1 lab	781dbde7e1
2:179483144 TTN G>T	2	179483144	179483144	G	T	TTN	c.47041C>A	NM_001267550.2	NP_001254479.2:p.(Pro15681Thr)	NC_000002.11:g.179483144G>T	VUS	1 lab	781feec568
9:140705950 EHMT1 G>A	9	140705950	140705950	G	A	EHMT1	c.2750G>A	NM_024757.5	NP_079033.4:p.(Gly917Asp)	NC_000009.11:g.140705950G>A	VUS	1 lab	78201c6b21
2:240923050 NDUFA10 C>T	2	240923050	240923050	C	T	NDUFA10	c.999+6441G>A	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240923050C>T	(Likely) benign	1 lab	7820bcd898
19:49519785 LHB CT>C	19	49519785	49519786	CT	C	LHB	c.183+18del	NM_000894.3	NP_000885.1:p.?	NC_000019.9:g.49519786del	(Likely) benign	1 lab	7821900a12
4:1087265 RNF212 T>C	4	1087265	1087265	T	C	RNF212	c.784A>G	NM_001193318.3	NP_001180247.1:p.(Ile262Val)	NC_000004.11:g.1087265T>C	(Likely) benign	1 lab	7821e8c465
1:70488797 LRRC7 C>T	1	70488797	70488797	C	T	LRRC7	c.1447-12C>T	NM_001330635.3	NP_001317564.1:p.?	NC_000001.10:g.70488797C>T	VUS	1 lab	78225feafe
6:111695126 REV3L C>T	6	111695126	111695126	C	T	REV3L	c.4198G>A	NM_001286431.2	NP_001273360.1:p.(Gly1400Ser)	NC_000006.11:g.111695126C>T	VUS	1 lab	7823729f8c
19:36227833 KMT2B G>A	19	36227833	36227833	G	A	KMT2B	c.7318G>A	NM_014727.3	NP_055542.1:p.(Glu2440Lys)	NC_000019.9:g.36227833G>A	VUS	1 lab	7824f60fb1
3:142274715 ATR T>G	3	142274715	142274715	T	G	ATR	c.2341+4A>C	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142274715T>G	VUS	1 lab	7826e04ce0
11:77043828 PAK1 G>A	11	77043828	77043828	G	A	PAK1	c.1498C>T	NM_001128620.2	NP_001122092.1:p.(Arg500Cys)	NC_000011.9:g.77043828G>A	VUS	1 lab	78288c081f
7:117232595 CFTR C>T	7	117232595	117232595	C	T	CFTR	c.2374C>T	NM_000492.4	NP_000483.3:p.(Arg792Ter)	NC_000007.13:g.117232595C>T	(Likely) pathogenic	1 lab	782a0fb997
X:76814235 ATRX C>T	X	76814235	76814235	C	T	ATRX	c.6409G>A	NM_000489.6	NP_000480.3:p.(Ala2137Thr)	NC_000023.10:g.76814235C>T	VUS	1 lab	782cadd93e
1:11087637 MASP2 A>G	1	11087637	11087637	A	G	MASP2	c.1366T>C	NM_006610.4	NP_006601.2:p.(Phe456Leu)	NC_000001.10:g.11087637A>G	VUS	1 lab	782deb617a
2:179474050 TTN CT>C	2	179474050	179474055	CT	C	TTN	c.51986del	NM_001267550.2	NP_001254479.2:p.(Lys17329ArgfsTer20)	NC_000002.11:g.179474055del	(Likely) pathogenic	1 lab	782eb29cb9
21:45951009 TSPEAR C>T	21	45951009	45951009	C	T	TSPEAR	c.550G>A	NM_144991.3	NP_659428.2:p.(Asp184Asn)	NC_000021.8:g.45951009C>T	VUS	1 lab	783ad0b5a7
10:75397540 MYOZ1 A>G	10	75397540	75397540	A	G	MYOZ1	c.214T>C	NM_021245.4	NP_067068.1:p.(Tyr72His)	NC_000010.10:g.75397540A>G	VUS	1 lab	783f955831
1:155449168 ASH1L TAGG>T	1	155449168	155449176	TAGG	T	ASH1L	c.3490_3492del	NM_018489.3	NP_060959.2:p.(Pro1164del)	NC_000001.10:g.155449174_155449176del	VUS	1 lab	783fc31cc6
9:139265794 CARD9 C>T	9	139265794	139265794	C	T	CARD9	c.304G>A	NM_052813.5	NP_434700.2:p.(Val102Ile)	NC_000009.11:g.139265794C>T	VUS	1 lab	7840f22ad8
17:78064014 CCDC40 AG>A	17	78064014	78064015	AG	A	CCDC40	c.2910del	NM_001243342.2	NP_001230271.1:p.(Asn971ThrfsTer71)	NC_000017.10:g.78064015del	(Likely) benign	1 lab	78434c8dc9
2:179395852 TTN G>A	2	179395852	179395852	G	A	TTN	c.105490C>T	NM_001267550.2	NP_001254479.2:p.(Arg35164Cys)	NC_000002.11:g.179395852G>A	VUS	1 lab	784a84b41e
10:74952321 FAM149B1 A>T	10	74952321	74952321	A	T	FAM149B1	c.290A>T	NM_173348.2	NP_775483.1:p.(Asp97Val)	NC_000010.10:g.74952321A>T	VUS	1 lab	784dcce972
7:117144345 CFTR G>A	7	117144345	117144345	G	A	CFTR	c.92G>A	NM_000492.4	NP_000483.3:p.(Arg31His)	NC_000007.13:g.117144345G>A	VUS	1 lab	784e173f24
7:154667614 DPP6 A>G	7	154667614	154667614	A	G	DPP6	c.1698-2A>G	NM_001936.5	NP_001927.3:p.?	NC_000007.13:g.154667614A>G	VUS	1 lab	784e3432de
2:179399799 TTN T>C	2	179399799	179399799	T	C	TTN	c.101543A>G	NM_001267550.2	NP_001254479.2:p.(Lys33848Arg)	NC_000002.11:g.179399799T>C	VUS	1 lab	7852052038
17:59937230 BRIP1 CAACA>C	17	59937230	59937239	CAACA	C	BRIP1	c.128_131del	NM_032043.3	NP_114432.2:p.(Leu43TrpfsTer11)	NC_000017.10:g.59937236_59937239del	(Likely) pathogenic	1 lab	785d43567c
17:39659913 KRT13 G>A	17	39659913	39659913	G	A	KRT13	c.560C>T	NM_153490.3	NP_705694.3:p.(Ala187Val)	NC_000017.10:g.39659913G>A	(Likely) benign	1 lab	785ebbbf24
7:127250907 PAX4 T>C	7	127250907	127250907	T	C	PAX4	c.1046A>G	NM_001366111.1	NP_001353040.1:p.(Ter349TrpextTer2)	NC_000007.13:g.127250907T>C	(Likely) benign	1 lab	7868617b03
12:49445543 KMT2D T>G	12	49445543	49445543	T	G	KMT2D	c.1923A>C	NM_003482.4	NP_003473.3:p.(Glu641Asp)	NC_000012.11:g.49445543T>G	VUS	1 lab	786c4559a0
17:61466010 TANC2 A>T	17	61466010	61466010	A	T	TANC2	c.2484A>T	NM_025185.4	NP_079461.2:p.(Lys828Asn)	NC_000017.10:g.61466010A>T	VUS	1 lab	786d8993f5
12:103246663 PAH G>A	12	103246663	103246663	G	A	PAH	c.772C>T	NM_000277.3	NP_000268.1:p.(Leu258=)	NC_000012.11:g.103246663G>A	(Likely) benign	1 lab	786e1b1d88
5:96011305 CAST G>C	5	96011305	96011305	G	C	CAST	c.138G>C	NM_001042440.5	NP_001035905.1:p.(Glu46Asp)	NC_000005.9:g.96011305G>C	(Likely) pathogenic	1 lab	7870e0e5e0
13:32913668 BRCA2 GA>G	13	32913668	32913672	GA	G	BRCA2	c.5180del	NM_000059.4	NP_000050.3:p.(Asn1727MetfsTer14)	NC_000013.10:g.32913672del	(Likely) pathogenic	1 lab	7872d92665
12:49434074 KMT2D C>A	12	49434074	49434074	C	A	KMT2D	c.7479G>T	NM_003482.4	NP_003473.3:p.(Gly2493=)	NC_000012.11:g.49434074C>A	(Likely) benign	1 lab	78764a704b
10:81065354 ZMIZ1 C>T	10	81065354	81065354	C	T	ZMIZ1	c.2419C>T	NM_020338.4	NP_065071.1:p.(Gln807Ter)	NC_000010.10:g.81065354C>T	(Likely) pathogenic	1 lab	787ce465ce
5:86679495 RASA1 TA>T	5	86679495	86679513	TA	T	RASA1	c.2691-17del	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86679513del	(Likely) benign	1 lab	787d4bb25c
19:47425381 ARHGAP35 C>G	19	47425381	47425381	C	G	ARHGAP35	c.3449C>G	NM_004491.5	NP_004482.4:p.(Ser1150Cys)	NC_000019.9:g.47425381C>G	VUS	1 lab	78811629a5
1:156105783 LMNA G>A	1	156105783	156105783	G	A	LMNA	c.1028G>A	NM_170707.4	NP_733821.1:p.(Arg343Gln)	NC_000001.10:g.156105783G>A	VUS	1 lab	78824a548e
10:54011430 PRKG1 G>A	10	54011430	54011430	G	A	PRKG1	c.1128+4G>A	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54011430G>A	(Likely) benign	1 lab	788e0f5315
11:108099934 ATM CAG>C	11	108099934	108099937	CAG	C	ATM	c.217_218del	NM_000051.4	NP_000042.3:p.(Glu73MetfsTer26)	NC_000011.9:g.108099936_108099937del	(Likely) pathogenic	1 lab	7890e1e1d6
11:1018087 MUC6 G>GTA	11	1018087	1018089	G	GTA	MUC6	c.4713_4714insTA	NM_005961.3	NP_005952.2:p.(Pro1572TyrfsTer21)	NC_000011.9:g.1018088_1018089insAT	VUS	1 lab	7891a59849
X:70389505 NLGN3 G>A	X	70389505	70389505	G	A	NLGN3	c.2045G>A	NM_018977.4	NP_061850.2:p.(Arg682His)	NC_000023.10:g.70389505G>A	VUS	1 lab	7892b29973
6:2959513 SERPINB6 C>T	6	2959513	2959513	C	T	SERPINB6	c.66G>A	NM_001195291.3	NP_001182220.2:p.(Thr22=)	NC_000006.11:g.2959513C>T	(Likely) benign	1 lab	789781c8ea
1:181701777 CACNA1E G>A	1	181701777	181701777	G	A	CACNA1E	c.2555G>A	NM_000721.4	NP_000712.2:p.(Arg852His)	NC_000001.10:g.181701777G>A	(Likely) benign	1 lab	78986c39fc
17:73975121 ACOX1 C>G	17	73975121	73975121	C	G	ACOX1	c.34G>C	NM_004035.7	NP_004026.2:p.(Ala12Pro)	NC_000017.10:g.73975121C>G	VUS	1 lab	78a159caab
10:12159667 DHTKD1 C>T	10	12159667	12159667	C	T	DHTKD1	c.2320-5C>T	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12159667C>T	(Likely) benign	1 lab	78a4690866
6:7565730 DSP G>A	6	7565730	7565730	G	A	DSP	c.916G>A	NM_004415.4	NP_004406.2:p.(Ala306Thr)	NC_000006.11:g.7565730G>A	VUS	1 lab	78a7bff322
12:33003924 PKP2 T>C	12	33003924	33003924	T	C	PKP2	c.1171-17A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003924T>C	(Likely) benign	1 lab	78a952602c
X:107433688 COL4A6 A>G	X	107433688	107433688	A	G	COL4A6	c.1360T>C	NM_033641.4	NP_378667.1:p.(Ser454Pro)	NC_000023.10:g.107433688A>G	(Likely) benign	1 lab	78a9ad40df
15:78305273 TBC1D2B T>C	15	78305273	78305273	T	C	TBC1D2B	c.2162A>G	NM_144572.2	NP_653173.1:p.(Asn721Ser)	NC_000015.9:g.78305273T>C	VUS	1 lab	78b34a48e8
8:61757457 CHD7 C>T	8	61757457	61757457	C	T	CHD7	c.4885C>T	NM_017780.4	NP_060250.2:p.(Arg1629Cys)	NC_000008.10:g.61757457C>T	VUS	1 lab	78b4b80681
16:1607963 IFT140 G>C	16	1607963	1607963	G	C	IFT140	c.2372C>G	NM_014714.4	NP_055529.2:p.(Ala791Gly)	NC_000016.9:g.1607963G>C	VUS	1 lab	78b6a0f9c5
18:51025785 DCC C>T	18	51025785	51025785	C	T	DCC	c.4016C>T	NM_005215.4	NP_005206.2:p.(Thr1339Ile)	NC_000018.9:g.51025785C>T	VUS	1 lab	78b74c8760
16:89857843 FANCA A>AG	16	89857843	89857847	A	AG	FANCA	c.1326dup	NM_000135.4	NP_000126.2:p.(Ser443LeufsTer42)	NC_000016.9:g.89857847dup	(Likely) pathogenic	1 lab	78ba55ecdc
12:121435587 HNF1A G>T	12	121435587	121435587	G	T	HNF1A	c.1501+119G>T	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121435587G>T	(Likely) benign	1 lab	78c6cb5528
1:39903533 MACF1 G>C	1	39903533	39903533	G	C	MACF1	c.11896G>C	NM_012090.5	NP_036222.3:p.(Val3966Leu)	NC_000001.10:g.39903533G>C	VUS	1 lab	78d20399a2
10:50725005 PGBD3 ATTAT>A	10	50725005	50725014	ATTAT	A	PGBD3	c.152_155del	NM_170753.3	NP_736609.2:p.(Asn51IlefsTer56)	NC_000010.10:g.50725011_50725014del	VUS	1 lab	78d228952e
X:68836539 EDA CG>C	X	68836539	68836542	CG	C	EDA	c.390del	NM_001399.5	NP_001390.1:p.(His131ThrfsTer6)	NC_000023.10:g.68836542del	(Likely) pathogenic	1 lab	78d75ed0d4
7:128494829 FLNC C>A	7	128494829	128494829	C	A	FLNC	c.6998C>A	NM_001458.5	NP_001449.3:p.(Ala2333Asp)	NC_000007.13:g.128494829C>A	VUS	1 lab	78dd8c4c5e
14:70478227 SMOC1 G>A	14	70478227	70478227	G	A	SMOC1	c.883G>A	NM_001034852.3	NP_001030024.1:p.(Asp295Asn)	NC_000014.8:g.70478227G>A	VUS	1 lab	78ddf05e99
2:29462651 ALK G>C	2	29462651	29462651	G	C	ALK	c.2250C>G	NM_004304.5	NP_004295.2:p.(Thr750=)	NC_000002.11:g.29462651G>C	(Likely) benign	1 lab	78f00fe3f7
21:19685405 TMPRSS15 A>G	21	19685405	19685405	A	G	TMPRSS15	c.2033-11T>C	NM_002772.3	NP_002763.3:p.?	NC_000021.8:g.19685405A>G	(Likely) benign	1 lab	78f066cb58
1:39934317 MACF1 C>T	1	39934317	39934317	C	T	MACF1	c.15607C>T	NM_012090.5	NP_036222.3:p.(Arg5203Cys)	NC_000001.10:g.39934317C>T	VUS	1 lab	78f7a07203
9:711962 KANK1 G>A	9	711962	711962	G	A	KANK1	c.1196G>A	NM_001256877.3	NP_001243806.1:p.(Arg399Gln)	NC_000009.11:g.711962G>A	(Likely) benign	1 lab	78fd5ff292
14:55510132 SOCS4 A>C	14	55510132	55510132	A	C	SOCS4	c.373A>C	NM_199421.2	NP_955453.1:p.(Ser125Arg)	NC_000014.8:g.55510132A>C	VUS	1 lab	78fdcf7c8d
10:68687249 CTNNA3 G>A	10	68687249	68687249	G	A	CTNNA3	c.1048-151967C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68687249G>A	(Likely) benign	1 lab	79055c15cc
8:144811338 SACK1H C>G	8	144811338	144811338	C	G	SACK1H	c.603G>C	NM_198488.5	NP_940890.4:p.(Gln201His)	NC_000008.10:g.144811338C>G	(Likely) benign	1 lab	7907d77bf2
2:73115446 SPR C>G	2	73115446	73115446	C	G	SPR	c.308C>G	NM_003124.5	NP_003115.1:p.(Ser103Cys)	NC_000002.11:g.73115446C>G	VUS	1 lab	790c8ae46c
16:6069900 RBFOX1 A>G	16	6069900	6069900	A	G	RBFOX1	c.1A>G	NM_001308117.1	NP_001295046.1:p.(Met1?)	NC_000016.9:g.6069900A>G	VUS	1 lab	790ca02dd5
12:22046985 ABCC9 C>T	12	22046985	22046985	C	T	ABCC9	c.1783G>A	NM_020297.4	NP_064693.2:p.(Ala595Thr)	NC_000012.11:g.22046985C>T	VUS	1 lab	790cc0764f
10:70646393 STOX1 G>A	10	70646393	70646393	G	A	STOX1	c.2822+19G>A	NM_152709.5	NP_689922.3:p.?	NC_000010.10:g.70646393G>A	(Likely) benign	1 lab	790ec0dae2
5:127637198 FBN2 T>C	5	127637198	127637198	T	C	FBN2	c.5922A>G	NM_001999.4	NP_001990.2:p.(Ile1974Met)	NC_000005.9:g.127637198T>C	VUS	1 lab	7914bdfcbe
19:41847918 TGFB1 G>A	19	41847918	41847918	G	A	TGFB1	c.730C>T	NM_000660.7	NP_000651.3:p.(Arg244Ter)	NC_000019.9:g.41847918G>A	VUS	1 lab	791bda6fd1
22:20097585 DGCR8 C>T	22	20097585	20097585	C	T	DGCR8	c.2276C>T	NM_022720.7	NP_073557.3:p.(Ala759Val)	NC_000022.10:g.20097585C>T	(Likely) benign	1 lab	791de47395
20:3870135 PANK2 G>T	20	3870135	3870135	G	T	PANK2	c.388G>T	NM_153638.4	NP_705902.2:p.(Gly130Cys)	NC_000020.10:g.3870135G>T	VUS	1 lab	7920e2f099
12:21692166 GYS2 CA>C	12	21692166	21692175	CA	C	GYS2	c.1890+25del	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21692175del	(Likely) benign	1 lab	79317e7095
8:144998096 PLEC C>T	8	144998096	144998096	C	T	PLEC	c.6082G>A	NM_000445.5	NP_000436.2:p.(Ala2028Thr)	NC_000008.10:g.144998096C>T	VUS	1 lab	7936658c39
16:14700385 PARN T>TA	16	14700385	14700388	T	TA	PARN	c.660-3dup	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14700388dup	(Likely) benign	1 lab	7936832279
2:129026328 HS6ST1 G>A	2	129026328	129026328	G	A	HS6ST1	c.644C>T	NM_004807.3	NP_004798.3:p.(Thr215Met)	NC_000002.11:g.129026328G>A	VUS	1 lab	793d3cd7e2
11:20623042 SLC6A5 T>C	11	20623042	20623042	T	C	SLC6A5	c.371T>C	NM_004211.5	NP_004202.4:p.(Phe124Ser)	NC_000011.9:g.20623042T>C	(Likely) benign	1 lab	793f99a5d1
17:40639168 ATP6V0A1 C>A	17	40639168	40639168	C	A	ATP6V0A1	c.832-5C>A	NM_001130020.3	NP_001123492.1:p.?	NC_000017.10:g.40639168C>A	(Likely) benign	1 lab	7940530610
4:103555974 MANBA C>T	4	103555974	103555974	C	T	MANBA	c.2386G>A	NM_005908.4	NP_005899.3:p.(Ala796Thr)	NC_000004.11:g.103555974C>T	VUS	1 lab	79417c60ad
X:153641601 TAFAZZIN T>A	X	153641601	153641601	T	A	TAFAZZIN	c.284+12T>A	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153641601T>A	(Likely) benign	1 lab	7943971204
10:91198598 SLC16A12 T>A	10	91198598	91198598	T	A	SLC16A12	c.791A>T	NM_213606.4	NP_998771.3:p.(Gln264Leu)	NC_000010.10:g.91198598T>A	VUS	1 lab	794405c80b
6:138197249 TNFAIP3 G>A	6	138197249	138197249	G	A	TNFAIP3	c.751G>A	NM_006290.4	NP_006281.1:p.(Gly251Ser)	NC_000006.11:g.138197249G>A	VUS	1 lab	794555642b
17:56661953 TEX14 G>A	17	56661953	56661953	G	A	TEX14	c.3079C>T	NM_198393.4	NP_938207.2:p.(His1027Tyr)	NC_000017.10:g.56661953G>A	VUS	1 lab	7945b1293f
11:73809256 C2CD3 A>G	11	73809256	73809256	A	G	C2CD3	c.2777T>C	NM_015531.6	NP_056346.3:p.(Val926Ala)	NC_000011.9:g.73809256A>G	(Likely) benign	1 lab	7946d665f9
11:118377030 KMT2A C>T	11	118377030	118377030	C	T	KMT2A	c.10423C>T	NM_001197104.2	NP_001184033.1:p.(Leu3475Phe)	NC_000011.9:g.118377030C>T	VUS	1 lab	794aac7af9
11:62301494 AHNAK C>T	11	62301494	62301494	C	T	AHNAK	c.395G>A	NM_001620.3	NP_001611.1:p.(Arg132Gln)	NC_000011.9:g.62301494C>T	VUS	1 lab	794e776fea
1:247587688 NLRP3 A>G	1	247587688	247587688	A	G	NLRP3	c.943A>G	NM_004895.5	NP_004886.3:p.(Ile315Val)	NC_000001.10:g.247587688A>G	VUS	1 lab	795071c048
1:92946607 GFI1 G>A	1	92946607	92946607	G	A	GFI1	c.337C>T	NM_005263.5	NP_005254.2:p.(Gln113Ter)	NC_000001.10:g.92946607G>A	VUS	1 lab	7953cea422
11:108382022 EXPH5 A>AT	11	108382022	108382028	A	AT	EXPH5	c.4211dup	NM_015065.3	NP_055880.2:p.(Asn1404LysfsTer8)	NC_000011.9:g.108382028dup	(Likely) pathogenic	1 lab	79589e4090
14:50626449 SOS2 C>G	14	50626449	50626449	C	G	SOS2	c.1552G>C	NM_006939.4	NP_008870.2:p.(Asp518His)	NC_000014.8:g.50626449C>G	VUS	1 lab	795a49e67a
13:108861913 LIG4 A>G	13	108861913	108861913	A	G	LIG4	c.1704T>C	NM_002312.3	NP_002303.2:p.(Asp568=)	NC_000013.10:g.108861913A>G	(Likely) benign	1 lab	795c7acfee
12:9248233 A2M T>C	12	9248233	9248233	T	C	A2M	c.1915A>G	NM_000014.6	NP_000005.3:p.(Asn639Asp)	NC_000012.11:g.9248233T>C	(Likely) benign	1 lab	796152c3f5
15:85342008 ZNF592 C>T	15	85342008	85342008	C	T	ZNF592	c.2926C>T	NM_014630.3	NP_055445.2:p.(Pro976Ser)	NC_000015.9:g.85342008C>T	VUS	1 lab	7963483842
21:43274693 PRDM15 C>T	21	43274693	43274693	C	T	PRDM15	c.520G>A	NM_001040424.3	NP_001035514.2:p.(Ala174Thr)	NC_000021.8:g.43274693C>T	VUS	1 lab	796b497b32
4:1343515 UVSSA C>T	4	1343515	1343515	C	T	UVSSA	c.302C>T	NM_020894.4	NP_065945.2:p.(Pro101Leu)	NC_000004.11:g.1343515C>T	VUS	1 lab	796b5d5d18
3:142987793 SLC9A9 CCAGAG>C	3	142987793	142987798	CCAGAG	C	SLC9A9	c.1629_1633del	NM_173653.4	NP_775924.1:p.(His543GlnfsTer10)	NC_000003.11:g.142987794_142987798del	VUS	1 lab	796e43894a
21:33065738 SCAF4 C>T	21	33065738	33065738	C	T	SCAF4	c.1382G>A	NM_020706.2	NP_065757.1:p.(Arg461His)	NC_000021.8:g.33065738C>T	(Likely) benign	1 lab	79704d472c
14:59112732 DACT1 C>T	14	59112732	59112732	C	T	DACT1	c.1391C>T	NM_016651.6	NP_057735.2:p.(Ala464Val)	NC_000014.8:g.59112732C>T	(Likely) benign	1 lab	7971332edb
3:123166430 ADCY5 C>T	3	123166430	123166430	C	T	ADCY5	c.963G>A	NM_183357.3	NP_899200.1:p.(Gln321=)	NC_000003.11:g.123166430C>T	(Likely) benign	1 lab	79718bc26c
12:33003902 PKP2 G>A	12	33003902	33003902	G	A	PKP2	c.1176C>T	NM_004572.4	NP_004563.2:p.(Asn392=)	NC_000012.11:g.33003902G>A	(Likely) benign	1 lab	797ade927c
1:152285820 FLG G>T	1	152285820	152285820	G	T	FLG	c.1542C>A	NM_002016.2	NP_002007.1:p.(Asp514Glu)	NC_000001.10:g.152285820G>T	VUS	1 lab	797ea1c632
14:23865539 MYH6 G>A	14	23865539	23865539	G	A	MYH6	c.2383C>T	NM_002471.4	NP_002462.2:p.(Arg795Trp)	NC_000014.8:g.23865539G>A	VUS	1 lab	798987b660
15:63354418 TPM1 C>T	15	63354418	63354418	C	T	TPM1	c.644C>T	NM_001018005.2	NP_001018005.1:p.(Ser215Leu)	NC_000015.9:g.63354418C>T	(Likely) pathogenic	1 lab	7991000347
12:103288598 PAH A>AG	12	103288598	103288600	A	AG	PAH	c.266dup	NM_000277.3	NP_000268.1:p.(Ala90CysfsTer12)	NC_000012.11:g.103288600dup	(Likely) pathogenic	1 lab	7991944ecd
12:52841572 KRT6B C>T	12	52841572	52841572	C	T	KRT6B	c.1414G>A	NM_005555.4	NP_005546.2:p.(Glu472Lys)	NC_000012.11:g.52841572C>T	(Likely) pathogenic	1 lab	79919e0161
11:108203492 ATM C>T	11	108203492	108203492	C	T	ATM	c.7792C>T	NM_000051.4	NP_000042.3:p.(Arg2598Ter)	NC_000011.9:g.108203492C>T	(Likely) pathogenic	1 lab	7993cdd8d0
14:50611949 SOS2 A>G	14	50611949	50611949	A	G	SOS2	c.2606T>C	NM_006939.4	NP_008870.2:p.(Val869Ala)	NC_000014.8:g.50611949A>G	VUS	1 lab	7994a6e060
X:70341193 MED12 G>A	X	70341193	70341193	G	A	MED12	c.752G>A	NM_005120.3	NP_005111.2:p.(Arg251Lys)	NC_000023.10:g.70341193G>A	VUS	1 lab	799c151935
3:188590446 LPP A>G	3	188590446	188590446	A	G	LPP	c.1605A>G	NM_005578.5	NP_005569.1:p.(Arg535=)	NC_000003.11:g.188590446A>G	(Likely) benign	1 lab	79a1136656
19:46285494 DMPK G>A	19	46285494	46285494	G	A	DMPK	c.136C>T	NM_001288764.2	NP_001275693.1:p.(Arg46Ter)	NC_000019.9:g.46285494G>A	VUS	1 lab	79aa4e268e
1:218610765 TGFB2 C>T	1	218610765	218610765	C	T	TGFB2	c.1013C>T	NM_003238.6	NP_003229.1:p.(Pro338Leu)	NC_000001.10:g.218610765C>T	VUS	1 lab	79b0023ff4
2:220284998 DES G>C	2	220284998	220284998	G	C	DES	c.665G>C	NM_001927.4	NP_001918.3:p.(Arg222Pro)	NC_000002.11:g.220284998G>C	VUS	1 lab	79b1ee7a9b
5:37020588 NIPBL T>C	5	37020588	37020588	T	C	NIPBL	c.5038T>C	NM_015384.5	NP_056199.2:p.(Trp1680Arg)	NC_000005.9:g.37020588T>C	(Likely) pathogenic	1 lab	79b48c81d3
18:42533130 SETBP1 A>G	18	42533130	42533130	A	G	SETBP1	c.3825A>G	NM_015559.3	NP_056374.2:p.(Ser1275=)	NC_000018.9:g.42533130A>G	(Likely) benign	1 lab	79b55d1e67
2:162273113 TBR1 TACAG>T	2	162273113	162273120	TACAG	T	TBR1	c.196_199del	NM_006593.4	NP_006584.1:p.(Asp66IlefsTer149)	NC_000002.11:g.162273117_162273120del	(Likely) pathogenic	1 lab	79b7446149
11:111916647 DLAT G>A	11	111916647	111916647	G	A	DLAT	c.1351G>A	NM_001931.5	NP_001922.2:p.(Asp451Asn)	NC_000011.9:g.111916647G>A	(Likely) benign	1 lab	79b79b6c23
1:61824948 NFIA T>G	1	61824948	61824948	T	G	NFIA	c.946+2T>G	NM_005595.5	NP_005586.1:p.?	NC_000001.10:g.61824948T>G	VUS	1 lab	79baf94c11
6:152728283 SYNE1 A>G	6	152728283	152728283	A	G	SYNE1	c.6589T>C	NM_182961.4	NP_892006.3:p.(Ser2197Pro)	NC_000006.11:g.152728283A>G	VUS	1 lab	79bc278583
15:56385697 RFX7 C>T	15	56385697	56385697	C	T	RFX7	c.4229G>A	NM_022841.7	NP_073752.6:p.(Arg1410His)	NC_000015.9:g.56385697C>T	VUS	1 lab	79f9cf3eee
2:48028226 MSH6 G>T	2	48028226	48028226	G	T	MSH6	c.3104G>T	NM_000179.3	NP_000170.1:p.(Arg1035Leu)	NC_000002.11:g.48028226G>T	VUS	1 lab	79d5593fa7
1:16054813 PLEKHM2 G>A	1	16054813	16054813	G	A	PLEKHM2	c.1882G>A	NM_015164.4	NP_055979.2:p.(Val628Met)	NC_000001.10:g.16054813G>A	VUS	1 lab	79d75f506f
7:142458967 PRSS1 A>T	7	142458967	142458967	A	T	PRSS1	c.200+402A>T	NM_002769.5	NP_002760.1:p.?	NC_000007.13:g.142458967A>T	(Likely) benign	1 lab	79d86c24dd
22:21346523 LZTR1 C>T	22	21346523	21346523	C	T	LZTR1	c.1014C>T	NM_006767.4	NP_006758.2:p.(Pro338=)	NC_000022.10:g.21346523C>T	(Likely) benign	1 lab	79dacfe40d
2:234669048 UGT1A1 C>G	2	234669048	234669048	C	G	UGT1A1	c.115C>G	NM_000463.3	NP_000454.1:p.(His39Asp)	NC_000002.11:g.234669048C>G	(Likely) pathogenic	1 lab	79db250f85
22:41543856 EP300 G>T	22	41543856	41543856	G	T	EP300	c.2147G>T	NM_001429.4	NP_001420.2:p.(Gly716Val)	NC_000022.10:g.41543856G>T	VUS	1 lab	79dbdd0a44
1:182355468 GLUL A>G	1	182355468	182355468	A	G	GLUL	c.398T>C	NM_002065.7	NP_002056.2:p.(Met133Thr)	NC_000001.10:g.182355468A>G	VUS	1 lab	79eadd4042
1:108724620 SLC25A24 G>C	1	108724620	108724620	G	C	SLC25A24	c.341C>G	NM_013386.5	NP_037518.3:p.(Ser114Cys)	NC_000001.10:g.108724620G>C	VUS	1 lab	79ebc3c6d5
2:179437814 TTN A>T	2	179437814	179437814	A	T	TTN	c.73045T>A	NM_001267550.2	NP_001254479.2:p.(Tyr24349Asn)	NC_000002.11:g.179437814A>T	VUS	1 lab	79ed83947e
12:52845786 KRT6B G>A	12	52845786	52845786	G	A	KRT6B	c.77C>T	NM_005555.4	NP_005546.2:p.(Pro26Leu)	NC_000012.11:g.52845786G>A	VUS	1 lab	79f06c5f18
1:43906214 SZT2 C>T	1	43906214	43906214	C	T	SZT2	c.7130C>T	NM_015284.4	NP_056099.3:p.(Thr2377Ile)	NC_000001.10:g.43906214C>T	VUS	1 lab	79f2a68165
17:71196809 COG1 A>G	17	71196809	71196809	A	G	COG1	c.1175A>G	NM_018714.3	NP_061184.1:p.(Asn392Ser)	NC_000017.10:g.71196809A>G	(Likely) benign	1 lab	79feabff9c
11:65108969 DPF2 C>T	11	65108969	65108969	C	T	DPF2	c.401C>T	NM_006268.5	NP_006259.1:p.(Pro134Leu)	NC_000011.9:g.65108969C>T	VUS	1 lab	79ffa949e0
10:76603097 KAT6B A>G	10	76603097	76603097	A	G	KAT6B	c.482A>G	NM_012330.4	NP_036462.2:p.(Asn161Ser)	NC_000010.10:g.76603097A>G	VUS	1 lab	7a0130a4f9
7:94229980 SGCE T>C	7	94229980	94229980	T	C	SGCE	c.1015A>G	NM_001099401.2	NP_001092871.1:p.(Met339Val)	NC_000007.13:g.94229980T>C	VUS	1 lab	7a057cf7b9
6:29911256 HLA-A T>G	6	29911256	29911256	T	G	HLA-A	c.555T>G	NM_002116.8	NP_002107.3:p.(Asp185Glu)	NC_000006.11:g.29911256T>G	(Likely) benign	1 lab	7a05c01aba
3:119109649 ARHGAP31 A>G	3	119109649	119109649	A	G	ARHGAP31	c.700A>G	NM_020754.4	NP_065805.2:p.(Lys234Glu)	NC_000003.11:g.119109649A>G	VUS	1 lab	7a05e9541e
17:39742616 KRT14 A>ACT	17	39742616	39742617	A	ACT	KRT14	c.470_471insAG	NM_000526.5	NP_000517.3:p.(Glu158ValfsTer16)	NC_000017.10:g.39742616_39742617insCT	VUS	1 lab	7a088688c0
X:53222021 KDM5C T>TGGGGGGGGG	X	53222021	53222025	T	TGGGGGGGGG	KDM5C	c.*127_*128insCCCCCCCCC	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53222024_53222025insGGGGGGGGG	(Likely) benign	1 lab	7a0c00cd93
19:13396023 CACNA1A G>T	19	13396023	13396023	G	T	CACNA1A	c.3557-3C>A	NM_001127221.2	NP_001120693.1:p.?	NC_000019.9:g.13396023G>T	VUS	1 lab	7a0cccee5f
13:103524700 ERCC5 C>T	13	103524700	103524700	C	T	ERCC5	c.2831C>T	NM_000123.4	NP_000114.3:p.(Ser944Leu)	NC_000013.10:g.103524700C>T	VUS	1 lab	7a0ec2e809
15:57924586 MYZAP T>A	15	57924586	57924586	T	A	MYZAP	c.679-46T>A	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57924586T>A	(Likely) benign	1 lab	7a0fa46ba7
1:201282635 PKP1 G>A	1	201282635	201282635	G	A	PKP1	c.648G>A	NM_000299.4	NP_000290.2:p.(Pro216=)	NC_000001.10:g.201282635G>A	(Likely) benign	1 lab	7a13669651
14:23887453 MYH7 C>T	14	23887453	23887453	C	T	MYH7	c.4135G>A	NM_000257.4	NP_000248.2:p.(Ala1379Thr)	NC_000014.8:g.23887453C>T	(Likely) pathogenic	1 lab	7a1424e5cc
11:62398498 GANAB G>A	11	62398498	62398498	G	A	GANAB	c.1216+4C>T	NM_198335.4	NP_938149.2:p.?	NC_000011.9:g.62398498G>A	(Likely) benign	1 lab	7a226c4a27
17:73839322 UNC13D A>G	17	73839322	73839322	A	G	UNC13D	c.179T>C	NM_199242.3	NP_954712.1:p.(Leu60Pro)	NC_000017.10:g.73839322A>G	(Likely) pathogenic	1 lab	7a230c2cfb
14:21899088 CHD8 C>T	14	21899088	21899088	C	T	CHD8	c.715G>A	NM_001170629.2	NP_001164100.1:p.(Val239Ile)	NC_000014.8:g.21899088C>T	VUS	1 lab	7a240546b7
1:155650218 YY1AP1 G>C	1	155650218	155650218	G	C	YY1AP1	c.424C>G	NM_001198903.1	NP_001185832.1:p.(Leu142Val)	NC_000001.10:g.155650218G>C	VUS	1 lab	7a291c20dd
15:72057480 THSD4 A>G	15	72057480	72057480	A	G	THSD4	c.1631A>G	NM_001286429.2	NP_001273358.1:p.(Gln544Arg)	NC_000015.9:g.72057480A>G	VUS	1 lab	7a2a1c971e
6:7542150 DSP T>TA	6	7542150	7542151	T	TA	DSP	c.2_3insA	NM_004415.4	NP_004406.2:p.(Met1?)	NC_000006.11:g.7542150_7542151insA	(Likely) benign	1 lab	7a31cf10d1
2:122288527 RNU4ATAC A>G	2	122288527	122288527	A	G	RNU4ATAC	n.72A>G	NR_023343.1		NC_000002.11:g.122288527A>G	VUS	1 lab	7a322044b8
X:99922373 SRPX2 G>A	X	99922373	99922373	G	A	SRPX2	c.1064G>A	NM_014467.3	NP_055282.1:p.(Arg355Gln)	NC_000023.10:g.99922373G>A	(Likely) benign	1 lab	7a34130769
7:83029438 SEMA3E C>T	7	83029438	83029438	C	T	SEMA3E	c.1272G>A	NM_012431.3	NP_036563.1:p.(Leu424=)	NC_000007.13:g.83029438C>T	(Likely) benign	1 lab	7a35c9c735
14:24567800 PCK2 C>T	14	24567800	24567800	C	T	PCK2	c.577C>T	NM_004563.4	NP_004554.3:p.(Arg193Ter)	NC_000014.8:g.24567800C>T	VUS	1 lab	7a37fbd2fc
X:129200877 ELF4 C>T	X	129200877	129200877	C	T	ELF4	c.1811G>A	NM_001421.4	NP_001412.1:p.(Arg604His)	NC_000023.10:g.129200877C>T	(Likely) benign	1 lab	7a39e5822b
22:18650687 USP18 C>T	22	18650687	18650687	C	T	USP18	c.511C>T	NM_017414.4	NP_059110.2:p.(Arg171Trp)	NC_000022.10:g.18650687C>T	VUS	1 lab	7a41911385
6:69772889 ADGRB3 C>T	6	69772889	69772889	C	T	ADGRB3	c.2397C>T	NM_001704.3	NP_001695.2:p.(Thr799=)	NC_000006.11:g.69772889C>T	(Likely) benign	1 lab	7a468def44
17:59557507 TBX4 A>G	17	59557507	59557507	A	G	TBX4	c.848A>G	NM_018488.3	NP_060958.2:p.(Gln283Arg)	NC_000017.10:g.59557507A>G	VUS	1 lab	7a4a4b0926
1:228437749 OBSCN G>A	1	228437749	228437749	G	A	OBSCN	c.4117G>A	NM_052843.4	NP_443075.3:p.(Glu1373Lys)	NC_000001.10:g.228437749G>A	VUS	1 lab	7a4d2d4cf8
3:169482477 TERC T>C	3	169482477	169482477	T	C	TERC	n.372A>G	NR_001566.1		NC_000003.11:g.169482477T>C	(Likely) pathogenic	1 lab	7a4ea0d5ef
6:26104188 H4C3 G>A	6	26104188	26104188	G	A	H4C3	c.13G>A	NM_003542.4	NP_003533.1:p.(Gly5Ser)	NC_000006.11:g.26104188G>A	VUS	1 lab	7a502255c6
16:14029077 ERCC4 G>A	16	14029077	14029077	G	A	ERCC4	c.1288G>A	NM_005236.3	NP_005227.1:p.(Ala430Thr)	NC_000016.9:g.14029077G>A	VUS	1 lab	7a538758b4
12:103352171 PAH C>CGCAGCA	12	103352171	103352208	C	CGCAGCA	PAH	c.-300_-295dup	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352203_103352208dup	(Likely) benign	1 lab	7a55a0265c
3:9478530 SETD5 A>G	3	9478530	9478530	A	G	SETD5	c.567+940A>G	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9478530A>G	(Likely) benign	1 lab	7a55d23c97
22:21341849 LZTR1 A>G	22	21341849	21341849	A	G	LZTR1	c.377A>G	NM_006767.4	NP_006758.2:p.(Tyr126Cys)	NC_000022.10:g.21341849A>G	VUS	1 lab	7a584925bc
X:53611203 HUWE1 T>C	X	53611203	53611203	T	C	HUWE1	c.5104A>G	NM_031407.7	NP_113584.3:p.(Lys1702Glu)	NC_000023.10:g.53611203T>C	VUS	1 lab	7a637e88c9
X:153588174 FLNA C>T	X	153588174	153588174	C	T	FLNA	c.3905G>A	NM_001456.4	NP_001447.2:p.(Gly1302Asp)	NC_000023.10:g.153588174C>T	VUS	1 lab	7a66d2df23
17:7579643 TP53 CCCCCAGCCCTCCAGGT>C	17	7579643	7579684	CCCCCAGCCCTCCAGGT	C	TP53	c.96+41_97-54del	NM_001126114.3	NP_001119586.1:p.?	NC_000017.10:g.7579669_7579684del	(Likely) benign	1 lab	7a6f7a0bf4
X:22117165 PHEX ACT>A	X	22117165	22117169	ACT	A	PHEX	c.978_979del	NM_000444.6	NP_000435.3:p.(Tyr327ProfsTer21)	NC_000023.10:g.22117168_22117169del	(Likely) pathogenic	1 lab	7a70921126
10:112572065 RBM20 G>A	10	112572065	112572065	G	A	RBM20	c.1910G>A	NM_001134363.3	NP_001127835.2:p.(Ser637Asn)	NC_000010.10:g.112572065G>A	(Likely) pathogenic	1 lab	7a7316189a
2:179584983 TTN G>A	2	179584983	179584983	G	A	TTN	c.19654C>T	NM_133378.4	NP_596869.4:p.(Arg6552Ter)	NC_000002.11:g.179584983G>A	VUS	1 lab	7a7339f9f2
3:167543092 SERPINI1 A>T	3	167543092	167543092	A	T	SERPINI1	c.1214A>T	NM_005025.5	NP_005016.1:p.(His405Leu)	NC_000003.11:g.167543092A>T	VUS	1 lab	7a7876bd2d
10:89469068 PAPSS2 C>G	10	89469068	89469068	C	G	PAPSS2	c.143C>G	NM_001015880.2	NP_001015880.1:p.(Thr48Arg)	NC_000010.10:g.89469068C>G	(Likely) pathogenic	1 lab	7a7a3a2e1f
16:88793452 PIEZO1 G>T	16	88793452	88793452	G	T	PIEZO1	c.3450C>A	NM_001142864.4	NP_001136336.2:p.(His1150Gln)	NC_000016.9:g.88793452G>T	VUS	1 lab	7a7d321e2b
16:75669879 KARS1 C>T	16	75669879	75669879	C	T	KARS1	c.684G>A	NM_001130089.2	NP_001123561.1:p.(Pro228=)	NC_000016.9:g.75669879C>T	(Likely) benign	1 lab	7a84e2a675
12:27840412 PPFIBP1 A>G	12	27840412	27840412	A	G	PPFIBP1	c.1901A>G	NM_001198915.2	NP_001185844.1:p.(Asn634Ser)	NC_000012.11:g.27840412A>G	VUS	1 lab	7a8782318b
16:3900407 CREBBP G>A	16	3900407	3900407	G	A	CREBBP	c.689C>T	NM_004380.3	NP_004371.2:p.(Ala230Val)	NC_000016.9:g.3900407G>A	VUS	1 lab	7a885bfe5d
2:15372562 NBAS C>T	2	15372562	15372562	C	T	NBAS	c.6220G>A	NM_015909.4	NP_056993.2:p.(Ala2074Thr)	NC_000002.11:g.15372562C>T	(Likely) benign	1 lab	7a88d6dedf
8:145742514 RECQL4 A>G	8	145742514	145742514	A	G	RECQL4	c.274T>C	NM_004260.4	NP_004251.4:p.(Ser92Pro)	NC_000008.10:g.145742514A>G	(Likely) benign	1 lab	7a990de514
16:85689985 GSE1 G>GCGCGAGCGCGAGCGCGAGCGTGAGCGTGAGGCTGAC	16	85689985	85690029	G	GCGCGAGCGCGAGCGCGAGCGTGAGCGTGAGGCTGAC	GSE1	c.1035_1070dup	NM_014615.5	NP_055430.1:p.(Arg347_Glu358dup)	NC_000016.9:g.85689994_85690029dup	VUS	1 lab	7a9bce18f7
4:170498114 NEK1 AT>A	4	170498114	170498120	AT	A	NEK1	c.984del	NM_012224.4	NP_036356.1:p.(Lys328AsnfsTer22)	NC_000004.11:g.170498120del	(Likely) pathogenic	1 lab	7a9c1cd835
X:31986443 DMD T>A	X	31986443	31986443	T	A	DMD	c.-767+13A>T	NM_004013.3	NP_004004.2:p.?	NC_000023.10:g.31986443T>A	(Likely) benign	1 lab	7a9e6ce8fe
17:44117220 KANSL1 A>G	17	44117220	44117220	A	G	KANSL1	c.2051T>C	NM_001193466.2	NP_001180395.1:p.(Met684Thr)	NC_000017.10:g.44117220A>G	VUS	1 lab	7aa42b881e
3:33093515 GLB1 G>A	3	33093515	33093515	G	A	GLB1	c.793-19C>T	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33093515G>A	(Likely) benign	1 lab	7aa9b250cb
15:40915190 KNL1 A>G	15	40915190	40915190	A	G	KNL1	c.2806A>G	NM_170589.5	NP_733468.3:p.(Arg936Gly)	NC_000015.9:g.40915190A>G	(Likely) benign	1 lab	7aaea513de
20:49509095 ADNP TA>T	20	49509095	49509097	TA	T	ADNP	c.2155del	NM_015339.5	NP_056154.1:p.(Tyr719ThrfsTer9)	NC_000020.10:g.49509097del	(Likely) pathogenic	1 lab	7aaec45e33
6:143081428 HIVEP2 C>G	6	143081428	143081428	C	G	HIVEP2	c.5997G>C	NM_006734.4	NP_006725.3:p.(Gln1999His)	NC_000006.11:g.143081428C>G	VUS	1 lab	7ab5c0496e
1:183192304 LAMC2 T>G	1	183192304	183192304	T	G	LAMC2	c.798T>G	NM_005562.3	NP_005553.2:p.(Gly266=)	NC_000001.10:g.183192304T>G	(Likely) benign	1 lab	7abb242f73
16:89348565 ANKRD11 CTCT>C	16	89348565	89348577	CTCT	C	ANKRD11	c.4382_4384del	NM_013275.6	NP_037407.4:p.(Lys1461del)	NC_000016.9:g.89348575_89348577del	VUS	1 lab	7abb30b275
11:64496395 RASGRP2 G>C	11	64496395	64496395	G	C	RASGRP2	c.1711C>G	NM_153819.1	NP_722541.1:p.(His571Asp)	NC_000011.9:g.64496395G>C	VUS	1 lab	7abd3a8743
12:52865042 KRT6C G>A	12	52865042	52865042	G	A	KRT6C	c.951C>T	NM_173086.5	NP_775109.2:p.(Ser317=)	NC_000012.11:g.52865042G>A	(Likely) benign	1 lab	7abebe281a
X:14868806 FANCB A>G	X	14868806	14868806	A	G	FANCB	c.1327-10T>C	NM_001018113.3	NP_001018123.1:p.?	NC_000023.10:g.14868806A>G	(Likely) benign	1 lab	7ac4175a2e
16:31004511 STX1B G>C	16	31004511	31004511	G	C	STX1B	c.726C>G	NM_052874.5	NP_443106.1:p.(Tyr242Ter)	NC_000016.9:g.31004511G>C	(Likely) pathogenic	1 lab	7ac435c379
1:20982151 DDOST G>A	1	20982151	20982151	G	A	DDOST	c.456+18C>T	NM_005216.5	NP_005207.3:p.?	NC_000001.10:g.20982151G>A	(Likely) benign	1 lab	7aca8b87dc
6:29912042 HLA-A G>A	6	29912042	29912042	G	A	HLA-A	c.763G>A	NM_002116.8	NP_002107.3:p.(Val255Met)	NC_000006.11:g.29912042G>A	(Likely) benign	1 lab	7acc9e06eb
10:69896476 MYPN C>T	10	69896476	69896476	C	T	MYPN	c.8C>T	NM_001256268.2	NP_001243197.1:p.(Pro3Leu)	NC_000010.10:g.69896476C>T	VUS	1 lab	7ad4db2e63
15:57924656 MYZAP G>A	15	57924656	57924656	G	A	MYZAP	c.703G>A	NM_001018100.5	NP_001018110.1:p.(Ala235Thr)	NC_000015.9:g.57924656G>A	VUS	1 lab	7adbe5f6b8
2:85778048 GGCX C>T	2	85778048	85778048	C	T	GGCX	c.1888G>A	NM_000821.7	NP_000812.2:p.(Glu630Lys)	NC_000002.11:g.85778048C>T	VUS	1 lab	7adc7fd517
18:3187557 MYOM1 G>A	18	3187557	3187557	G	A	MYOM1	c.850C>T	NM_003803.4	NP_003794.3:p.(Arg284Cys)	NC_000018.9:g.3187557G>A	VUS	1 lab	7ade9ef7cd
16:1497451 CLCN7 C>A	16	1497451	1497451	C	A	CLCN7	c.2192G>T	NM_001287.6	NP_001278.1:p.(Arg731Leu)	NC_000016.9:g.1497451C>A	VUS	1 lab	7af4dd8db7
3:9514944 SETD5 C>T	3	9514944	9514944	C	T	SETD5	c.3220C>T	NM_001080517.3	NP_001073986.1:p.(Arg1074Trp)	NC_000003.11:g.9514944C>T	VUS	1 lab	7af6d7b798
18:52901787 TCF4 G>T	18	52901787	52901787	G	T	TCF4	c.1478C>A	NM_001083962.2	NP_001077431.1:p.(Pro493His)	NC_000018.9:g.52901787G>T	VUS	1 lab	7af99fa5a4
15:51285584 AP4E1 T>C	15	51285584	51285584	T	C	AP4E1	c.1883T>C	NM_001252127.2	NP_001239056.1:p.(Leu628Pro)	NC_000015.9:g.51285584T>C	VUS	1 lab	7afbd31f81
9:134388628 POMT1 A>G	9	134388628	134388628	A	G	POMT1	c.1085A>G	NM_001136113.2	NP_001129585.1:p.(His362Arg)	NC_000009.11:g.134388628A>G	(Likely) benign	1 lab	7afefd351c
2:179432946 TTN A>G	2	179432946	179432946	A	G	TTN	c.77913T>C	NM_001267550.2	NP_001254479.2:p.(Tyr25971=)	NC_000002.11:g.179432946A>G	(Likely) benign	1 lab	7b06759a55
10:79396651 KCNMA1 C>G	10	79396651	79396651	C	G	KCNMA1	c.378+372G>C	NM_002247.4	NP_002238.2:p.?	NC_000010.10:g.79396651C>G	(Likely) benign	1 lab	7b0d2efcb7
12:133149179 FBRSL1 G>A	12	133149179	133149179	G	A	FBRSL1	c.1555G>A	NM_001142641.2	NP_001136113.1:p.(Gly519Arg)	NC_000012.11:g.133149179G>A	VUS	1 lab	7b10d64233
1:226076697 LEFTY1 C>T	1	226076697	226076697	C	T	LEFTY1	c.70G>A	NM_020997.4	NP_066277.1:p.(Gly24Arg)	NC_000001.10:g.226076697C>T	VUS	1 lab	7b14183a8d
10:50732497 ERCC6 G>A	10	50732497	50732497	G	A	ERCC6	c.979C>T	NM_000124.4	NP_000115.1:p.(Arg327Cys)	NC_000010.10:g.50732497G>A	VUS	1 lab	7b15b16948
15:90294004 MESP1 C>G	15	90294004	90294004	C	G	MESP1	c.459G>C	NM_018670.3	NP_061140.1:p.(Gln153His)	NC_000015.9:g.90294004C>G	VUS	1 lab	7b1994948f
11:108173720 ATM ATG>A	11	108173720	108173724	ATG	A	ATM	c.5463_5464del	NM_000051.4	NP_000042.3:p.(Cys1821Ter)	NC_000011.9:g.108173723_108173724del	(Likely) pathogenic	1 lab	7b2243a837
18:32711965 MAPRE2 G>GT	18	32711965	32711973	G	GT	MAPRE2	c.751-23dup	NM_014268.4	NP_055083.1:p.?	NC_000018.9:g.32711973dup	(Likely) benign	1 lab	7b25e56c53
2:179394686 TTN C>T	2	179394686	179394686	C	T	TTN	c.106531+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179394686C>T	(Likely) pathogenic	1 lab	7b28a0f45b
7:107577679 LAMB1 C>CTT	7	107577679	107577681	C	CTT	LAMB1	c.3803_3804dup	NM_002291.3	NP_002282.2:p.(Val1269LysfsTer2)	NC_000007.13:g.107577680_107577681dup	(Likely) pathogenic	1 lab	7b32d6782a
1:154570392 ADAR C>T	1	154570392	154570392	C	T	ADAR	c.1846G>A	NM_001111.5	NP_001102.3:p.(Val616Ile)	NC_000001.10:g.154570392C>T	VUS	1 lab	7b36609638
10:95557465 LGI1 CAT>C	10	95557465	95557467	CAT	C	LGI1	c.1580_1581del	NM_005097.4	NP_005088.1:p.(His527ArgfsTer4)	NC_000010.10:g.95557466_95557467del	(Likely) pathogenic	1 lab	7b386e043e
8:12956898 DLC1 C>CTTTCCGGGATCTCGGAGGGCT	8	12956898	12956919	C	CTTTCCGGGATCTCGGAGGGCT	DLC1	c.2927_2947dup	NM_182643.3	NP_872584.2:p.(Glu982_Arg983insLysProSerGluIleProGlu)	NC_000008.10:g.12956899_12956919dup	VUS	1 lab	7b3c91a541
7:117180238 CFTR G>A	7	117180238	117180238	G	A	CFTR	c.954G>A	NM_000492.4	NP_000483.3:p.(Val318=)	NC_000007.13:g.117180238G>A	(Likely) benign	1 lab	7b3f4cd87d
9:133759923 ABL1 C>T	9	133759923	133759923	C	T	ABL1	c.2303C>T	NM_007313.2	NP_009297.2:p.(Ser768Leu)	NC_000009.11:g.133759923C>T	(Likely) benign	1 lab	7b3ff54fc2
18:19057144 GREB1L T>C	18	19057144	19057144	T	C	GREB1L	c.2383T>C	NM_001142966.3	NP_001136438.1:p.(Ser795Pro)	NC_000018.9:g.19057144T>C	(Likely) benign	1 lab	7b4270ab2a
5:33989518 AMACR C>T	5	33989518	33989518	C	T	AMACR	c.829G>A	NM_014324.6	NP_055139.4:p.(Glu277Lys)	NC_000005.9:g.33989518C>T	(Likely) benign	1 lab	7b4311d2f2
10:95134644 MYOF C>T	10	95134644	95134644	C	T	MYOF	c.2177G>A	NM_013451.4	NP_038479.1:p.(Arg726Gln)	NC_000010.10:g.95134644C>T	(Likely) benign	1 lab	7b479c4b41
9:80919756 PSAT1 T>G	9	80919756	80919756	T	G	PSAT1	c.297T>G	NM_058179.4	NP_478059.1:p.(Ala99=)	NC_000009.11:g.80919756T>G	(Likely) benign	1 lab	7b4b2e0fe4
7:128489635 FLNC A>G	7	128489635	128489635	A	G	FLNC	c.5199+3A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489635A>G	VUS	1 lab	7b4b9d56f5
4:996819 IDUA C>T	4	996819	996819	C	T	IDUA	c.1403-5C>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996819C>T	VUS	1 lab	7b4ce2113e
3:38674777 SCN5A G>A	3	38674777	38674777	G	A	SCN5A	c.22C>T	NM_198056.3	NP_932173.1:p.(Arg8Trp)	NC_000003.11:g.38674777G>A	VUS	1 lab	7b50f5d3e4
6:157528849 ARID1B G>A	6	157528849	157528849	G	A	ARID1B	c.6823G>A	NM_001371656.1	NP_001358585.1:p.(Val2275Ile)	NC_000006.11:g.157528849G>A	VUS	1 lab	7b525914ba
6:43638684 RSPH9 T>C	6	43638684	43638684	T	C	RSPH9	c.829T>C	NM_152732.5	NP_689945.2:p.(Ter277GlnextTer9)	NC_000006.11:g.43638684T>C	VUS	1 lab	7b53890007
X:48385581 EBP C>G	X	48385581	48385581	C	G	EBP	c.377C>G	NM_006579.3	NP_006570.1:p.(Ala126Gly)	NC_000023.10:g.48385581C>G	VUS	1 lab	7b58eeb5a5
7:107204349 COG5 G>A	7	107204349	107204349	G	A	COG5	c.-8C>T	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.107204349G>A	(Likely) benign	1 lab	7b5b3b84a7
18:34335241 FHOD3 G>C	18	34335241	34335241	G	C	FHOD3	c.3867G>C	NM_025135.5	NP_079411.2:p.(Glu1289Asp)	NC_000018.9:g.34335241G>C	VUS	1 lab	7b606cd705
7:117171039 CFTR G>A	7	117171039	117171039	G	A	CFTR	c.360G>A	NM_000492.4	NP_000483.3:p.(Ala120=)	NC_000007.13:g.117171039G>A	(Likely) benign	1 lab	7b61ec8df6
9:2087046 SMARCA2 C>A	9	2087046	2087046	C	A	SMARCA2	c.2744C>A	NM_003070.5	NP_003061.3:p.(Ala915Asp)	NC_000009.11:g.2087046C>A	VUS	1 lab	7b621c43a2
3:158306627 MLF1 A>G	3	158306627	158306627	A	G	MLF1	c.-28-3596A>G	NM_001195432.4	NP_001182361.2:p.?	NC_000003.11:g.158306627A>G	(Likely) benign	1 lab	7b68d0e75f
16:30723051 SRCAP G>A	16	30723051	30723051	G	A	SRCAP	c.1478G>A	NM_006662.3	NP_006653.2:p.(Ser493Asn)	NC_000016.9:g.30723051G>A	VUS	1 lab	7b6959dea6
2:179480115 TTN C>A	2	179480115	179480115	C	A	TTN	c.48557G>T	NM_001267550.2	NP_001254479.2:p.(Arg16186Leu)	NC_000002.11:g.179480115C>A	VUS	1 lab	7b6a3eb4af
1:231376826 FSAF1 G>A	1	231376826	231376826	G	A	FSAF1	c.62C>T	NM_152379.4	NP_689592.2:p.(Thr21Met)	NC_000001.10:g.231376826G>A	VUS	1 lab	7b74257829
16:56548639 BBS2 A>C	16	56548639	56548639	A	C	BBS2	c.118-47T>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56548639A>C	(Likely) benign	1 lab	7b74fb260f
7:94285386 SGCE G>T	7	94285386	94285386	G	T	SGCE	c.25C>A	NM_001099401.2	NP_001092871.1:p.(Leu9Met)	NC_000007.13:g.94285386G>T	VUS	1 lab	7b7644a709
7:148512642 EZH2 C>T	7	148512642	148512642	C	T	EZH2	c.1506-4G>A	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148512642C>T	(Likely) benign	1 lab	7b783aa540
18:29178543 TTR G>T	18	29178543	29178543	G	T	TTR	c.349G>T	NM_000371.4	NP_000362.1:p.(Ala117Ser)	NC_000018.9:g.29178543G>T	(Likely) pathogenic	1 lab	7b7b19dcdc
4:151504620 MAB21L2 G>T	4	151504620	151504620	G	T	MAB21L2	c.439G>T	NM_006439.5	NP_006430.1:p.(Asp147Tyr)	NC_000004.11:g.151504620G>T	VUS	1 lab	7b85894266
9:5090570 JAK2 G>GGTAACTAATATCCTGATTATTTGCTGT	9	5090570	5090597	G	GGTAACTAATATCCTGATTATTTGCTGT	JAK2	c.2886+1_2886+27dup	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5090571_5090597dup	VUS	1 lab	7b8e48d6c5
12:4479913 FGF23 GGT>G	12	4479913	4479917	GGT	G	FGF23	c.350_351del	NM_020638.3	NP_065689.1:p.(His117ProfsTer105)	NC_000012.11:g.4479916_4479917del	(Likely) pathogenic	1 lab	7b8f6a8de3
2:163124615 IFIH1 T>C	2	163124615	163124615	T	C	IFIH1	c.2789A>G	NM_022168.4	NP_071451.2:p.(Asn930Ser)	NC_000002.11:g.163124615T>C	VUS	1 lab	7b9395a00a
11:125875706 CDON G>A	11	125875706	125875706	G	A	CDON	c.1799C>T	NM_016952.5	NP_058648.4:p.(Ala600Val)	NC_000011.9:g.125875706G>A	VUS	1 lab	7b93adb57c
5:149775997 TCOF1 C>T	5	149775997	149775997	C	T	TCOF1	c.3934C>T	NM_001135243.2	NP_001128715.1:p.(Gln1312Ter)	NC_000005.9:g.149775997C>T	(Likely) pathogenic	1 lab	7b9514d168
4:74005689 ANKRD17 G>A	4	74005689	74005689	G	A	ANKRD17	c.2305C>T	NM_001286771.3	NP_001273700.1:p.(Gln769Ter)	NC_000004.11:g.74005689G>A	(Likely) pathogenic	1 lab	7b9f351311
2:42994814 HAAO C>G	2	42994814	42994814	C	G	HAAO	c.703G>C	NM_012205.3	NP_036337.2:p.(Gly235Arg)	NC_000002.11:g.42994814C>G	VUS	1 lab	7ba1d56fe3
6:13288648 MISSING A>G	6	13288648	13288648	A	G	MISSING				NC_000006.11:g.13288648A>G	(Likely) benign	1 lab	7d525f86f6
6:108215104 SEC63 G>C	6	108215104	108215104	G	C	SEC63	c.1441-3C>G	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108215104G>C	VUS	1 lab	7ba5ae80a8
17:14110493 COX10 C>T	17	14110493	14110493	C	T	COX10	c.1295C>T	NM_001303.4	NP_001294.2:p.(Pro432Leu)	NC_000017.10:g.14110493C>T	VUS	1 lab	7ba609cae5
17:76475651 DNAH17 T>C	17	76475651	76475651	T	C	DNAH17	c.7816A>G	NM_173628.4	NP_775899.3:p.(Thr2606Ala)	NC_000017.10:g.76475651T>C	VUS	1 lab	7ba7aad6c1
22:19026473 DGCR2 G>A	22	19026473	19026473	G	A	DGCR2	c.1558C>T	NM_005137.3	NP_005128.1:p.(Pro520Ser)	NC_000022.10:g.19026473G>A	VUS	1 lab	7ba9234290
X:147030210 FMR1 T>C	X	147030210	147030210	T	C	FMR1	c.1745T>C	NM_002024.6	NP_002015.1:p.(Val582Ala)	NC_000023.10:g.147030210T>C	VUS	1 lab	7baa39fae8
5:138268660 CTNNA1 A>T	5	138268660	138268660	A	T	CTNNA1	c.2433+259A>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138268660A>T	(Likely) benign	1 lab	7bb30494f5
2:39249903 SOS1 C>T	2	39249903	39249903	C	T	SOS1	c.1666G>A	NM_005633.4	NP_005624.2:p.(Val556Ile)	NC_000002.11:g.39249903C>T	VUS	1 lab	7bb371bf3c
18:6956504 LAMA1 ACAGCTCCAGCTC>A	18	6956504	6956533	ACAGCTCCAGCTC	A	LAMA1	c.8094+119_8094+130del	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6956522_6956533del	(Likely) benign	1 lab	7bb3b9e5c2
22:50656547 TUBGCP6 C>A	22	50656547	50656547	C	A	TUBGCP6	c.5169-1G>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50656547C>A	(Likely) pathogenic	1 lab	7bba29d1d7
20:23028659 THBD G>A	20	23028659	23028659	G	A	THBD	c.1483C>T	NM_000361.3	NP_000352.1:p.(Pro495Ser)	NC_000020.10:g.23028659G>A	(Likely) benign	1 lab	7bc199bdb0
10:50678727 ERCC6 A>T	10	50678727	50678727	A	T	ERCC6	c.3279T>A	NM_000124.4	NP_000115.1:p.(Asp1093Glu)	NC_000010.10:g.50678727A>T	VUS	1 lab	7bc916ca1e
2:179458879 TTN G>T	2	179458879	179458879	G	T	TTN	c.58241C>A	NM_001267550.2	NP_001254479.2:p.(Pro19414Gln)	NC_000002.11:g.179458879G>T	VUS	1 lab	7bc94d710d
12:2694611 CACNA1C G>T	12	2694611	2694611	G	T	CACNA1C	c.2409G>T	NM_000719.7	NP_000710.5:p.(Lys803Asn)	NC_000012.11:g.2694611G>T	VUS	1 lab	7bca46b90f
8:144995447 PLEC C>T	8	144995447	144995447	C	T	PLEC	c.8623G>A	NM_000445.5	NP_000436.2:p.(Asp2875Asn)	NC_000008.10:g.144995447C>T	VUS	1 lab	7bcb5b9692
10:28884772 WAC A>G	10	28884772	28884772	A	G	WAC	c.721A>G	NM_016628.5	NP_057712.2:p.(Ser241Gly)	NC_000010.10:g.28884772A>G	(Likely) benign	1 lab	7bcf0e186a
2:25463509 DNMT3A CGT>C	2	25463509	25463511	CGT	C	DNMT3A	c.2171_2172del	NM_175629.2	NP_783328.1:p.(Tyr724Ter)	NC_000002.11:g.25463510_25463511del	(Likely) pathogenic	1 lab	7bd823483b
2:179404482 TTN A>G	2	179404482	179404482	A	G	TTN	c.98310T>C	NM_001267550.2	NP_001254479.2:p.(Ser32770=)	NC_000002.11:g.179404482A>G	(Likely) benign	1 lab	7bd93fde90
11:119058780 NHERF4 C>A	11	119058780	119058780	C	A	NHERF4	c.789C>A	NM_001168468.2	NP_001161940.1:p.(Cys263Ter)	NC_000011.9:g.119058780C>A	VUS	1 lab	7bda0640eb
7:70252421 AUTS2 C>T	7	70252421	70252421	C	T	AUTS2	c.2531+4C>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70252421C>T	(Likely) benign	1 lab	7bdc52d07b
19:49469013 FTL A>G	19	49469013	49469013	A	G	FTL	c.103-14A>G	NM_000146.4	NP_000137.2:p.?	NC_000019.9:g.49469013A>G	(Likely) benign	1 lab	7be22a12c3
12:42858358 PRICKLE1 C>T	12	42858358	42858358	C	T	PRICKLE1	c.1478G>A	NM_153026.3	NP_694571.2:p.(Ser493Asn)	NC_000012.11:g.42858358C>T	VUS	1 lab	7be776e75d
13:48954378 RB1 G>GT	13	48954378	48954379	G	GT	RB1	c.1498+2dup	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954379dup	(Likely) pathogenic	1 lab	7beb3e4752
17:62007498 CD79B A>G	17	62007498	62007498	A	G	CD79B	c.369T>C	NM_001039933.3	NP_001035022.1:p.(Cys123=)	NC_000017.10:g.62007498A>G	(Likely) benign	1 lab	7beebd9807
12:21981893 ABCC9 G>A	12	21981893	21981893	G	A	ABCC9	c.3668C>T	NM_020297.4	NP_064693.2:p.(Thr1223Met)	NC_000012.11:g.21981893G>A	(Likely) benign	1 lab	7bf2f3003a
2:44145442 LRPPRC C>T	2	44145442	44145442	C	T	LRPPRC	c.2992G>A	NM_133259.4	NP_573566.2:p.(Glu998Lys)	NC_000002.11:g.44145442C>T	VUS	1 lab	7bf908b152
5:71495506 MAP1B G>C	5	71495506	71495506	G	C	MAP1B	c.6324G>C	NM_005909.5	NP_005900.2:p.(Glu2108Asp)	NC_000005.9:g.71495506G>C	VUS	1 lab	7bfdf23fac
14:51378590 PYGL CT>C	14	51378590	51378593	CT	C	PYGL	c.1828-2del	NM_002863.5	NP_002854.3:p.?	NC_000014.8:g.51378593del	(Likely) benign	1 lab	7bfe465acc
1:74715233 TNNI3K G>C	1	74715233	74715233	G	C	TNNI3K	c.235+5G>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74715233G>C	VUS	1 lab	7c0bd32b8c
14:24711501 TINF2 C>A	14	24711501	24711501	C	A	TINF2	c.38G>T	NM_001099274.3	NP_001092744.1:p.(Arg13Leu)	NC_000014.8:g.24711501C>A	VUS	1 lab	7c0be8d3f9
17:59482032 TBX2 C>A	17	59482032	59482032	C	A	TBX2	c.953C>A	NM_005994.4	NP_005985.3:p.(Ala318Glu)	NC_000017.10:g.59482032C>A	VUS	1 lab	7c0c6759c6
10:96701601 CYP2C9 G>C	10	96701601	96701601	G	C	CYP2C9	c.169-14G>C	NM_000771.4	NP_000762.2:p.?	NC_000010.10:g.96701601G>C	(Likely) benign	1 lab	7c148aa59a
18:51025689 DCC C>G	18	51025689	51025689	C	G	DCC	c.3920C>G	NM_005215.4	NP_005206.2:p.(Thr1307Ser)	NC_000018.9:g.51025689C>G	VUS	1 lab	7c14e399ce
1:236966848 MTR G>A	1	236966848	236966848	G	A	MTR	c.155G>A	NM_000254.3	NP_000245.2:p.(Arg52Gln)	NC_000001.10:g.236966848G>A	(Likely) benign	1 lab	7c1a986c67
6:119238906 MCM9 C>T	6	119238906	119238906	C	T	MCM9	c.724G>A	NM_017696.3	NP_060166.2:p.(Gly242Arg)	NC_000006.11:g.119238906C>T	VUS	1 lab	7c1f6f59c9
2:122288605 CLASP1 C>T	2	122288605	122288605	C	T	CLASP1	c.196-704G>A	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288605C>T	(Likely) benign	1 lab	7c246f3fc0
1:103471847 COL11A1 G>A	1	103471847	103471847	G	A	COL11A1	c.1708C>T	NM_001854.4	NP_001845.3:p.(Pro570Ser)	NC_000001.10:g.103471847G>A	VUS	1 lab	7c253dfaab
19:50216311 CPT1C G>A	19	50216311	50216311	G	A	CPT1C	c.2183G>A	NM_001136052.3	NP_001129524.1:p.(Ser728Asn)	NC_000019.9:g.50216311G>A	VUS	1 lab	7c268dbedc
7:145813920 CNTNAP2 T>G	7	145813920	145813920	T	G	CNTNAP2	c.-49T>G	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.145813920T>G	(Likely) benign	1 lab	7c2ca04a7c
6:7583675 DSP TC>T	6	7583675	7583679	TC	T	DSP	c.6184del	NM_004415.4	NP_004406.2:p.(His2062IlefsTer6)	NC_000006.11:g.7583679del	(Likely) pathogenic	1 lab	7c3420fb0b
16:88798323 PIEZO1 GGAGGGGA>G	16	88798323	88798335	GGAGGGGA	G	PIEZO1	c.2992-12_2992-6del	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798329_88798335del	(Likely) benign	1 lab	7c38092a1b
11:57564167 CTNND1 G>A	11	57564167	57564167	G	A	CTNND1	c.659G>A	NM_001085458.2	NP_001078927.1:p.(Gly220Asp)	NC_000011.9:g.57564167G>A	(Likely) benign	1 lab	7c38375828
7:56085046 PSPH C>T	7	56085046	56085046	C	T	PSPH	c.302G>A	NM_004577.4	NP_004568.2:p.(Arg101Gln)	NC_000007.13:g.56085046C>T	VUS	1 lab	7c3f35ab31
16:31129010 KAT8 C>T	16	31129010	31129010	C	T	KAT8	c.8C>T	NM_182958.4	NP_892003.2:p.(Ala3Val)	NC_000016.9:g.31129010C>T	VUS	1 lab	7c41968f2e
1:43396742 SLC2A1 C>T	1	43396742	43396742	C	T	SLC2A1	c.250G>A	NM_006516.4	NP_006507.2:p.(Gly84Ser)	NC_000001.10:g.43396742C>T	VUS	1 lab	7c4840451b
X:153229569 HCFC1 C>T	X	153229569	153229569	C	T	HCFC1	c.503+6G>A	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153229569C>T	(Likely) benign	1 lab	7c4b67263b
8:48752648 PRKDC G>C	8	48752648	48752648	G	C	PRKDC	c.7383C>G	NM_006904.7	NP_008835.5:p.(Phe2461Leu)	NC_000008.10:g.48752648G>C	VUS	1 lab	7c4db6a2ae
8:61765489 CHD7 C>G	8	61765489	61765489	C	G	CHD7	c.6205C>G	NM_017780.4	NP_060250.2:p.(Leu2069Val)	NC_000008.10:g.61765489C>G	VUS	1 lab	7c4ff4aef8
1:8045010 PARK7 C>T	1	8045010	8045010	C	T	PARK7	c.466C>T	NM_007262.5	NP_009193.2:p.(Arg156Trp)	NC_000001.10:g.8045010C>T	VUS	1 lab	7c545f11a2
3:158320597 MLF1 T>C	3	158320597	158320597	T	C	MLF1	c.540T>C	NM_001195432.4	NP_001182361.2:p.(Ser180=)	NC_000003.11:g.158320597T>C	(Likely) benign	1 lab	7c55743895
1:154226532 UBAP2L TTCA>T	1	154226532	154226538	TTCA	T	UBAP2L	c.1825_1827del	NM_014847.4	NP_055662.3:p.(Ser609del)	NC_000001.10:g.154226536_154226538del	VUS	1 lab	7c56e2e3a9
19:41056172 SPTBN4 C>T	19	41056172	41056172	C	T	SPTBN4	c.4613C>T	NM_020971.3	NP_066022.2:p.(Ala1538Val)	NC_000019.9:g.41056172C>T	VUS	1 lab	7c579f117a
3:58179028 DNASE1L3 T>C	3	58179028	58179028	T	C	DNASE1L3	c.801+42A>G	NM_004944.4	NP_004935.1:p.?	NC_000003.11:g.58179028T>C	(Likely) benign	1 lab	7c5cc57f57
2:179413130 TTN A>T	2	179413130	179413130	A	T	TTN	c.85519T>A	NM_133378.4	NP_596869.4:p.(Phe28507Ile)	NC_000002.11:g.179413130A>T	VUS	1 lab	7c5e2dfa00
19:55526373 GP6 G>C	19	55526373	55526373	G	C	GP6	c.940C>G	NM_001083899.2	NP_001077368.2:p.(Pro314Ala)	NC_000019.9:g.55526373G>C	(Likely) benign	1 lab	7c65dd7d46
18:32398188 DTNA G>A	18	32398188	32398188	G	A	DTNA	c.770G>A	NM_001390.4	NP_001381.2:p.(Arg257Gln)	NC_000018.9:g.32398188G>A	VUS	1 lab	7c6793b7d0
2:44174403 LRPPRC G>A	2	44174403	44174403	G	A	LRPPRC	c.2072C>T	NM_133259.4	NP_573566.2:p.(Ser691Leu)	NC_000002.11:g.44174403G>A	VUS	1 lab	7c67f38935
X:129201450 ELF4 G>A	X	129201450	129201450	G	A	ELF4	c.1238C>T	NM_001421.4	NP_001412.1:p.(Ser413Leu)	NC_000023.10:g.129201450G>A	VUS	1 lab	7c692e419e
4:79440557 FRAS1 C>G	4	79440557	79440557	C	G	FRAS1	c.10462C>G	NM_025074.7	NP_079350.5:p.(Pro3488Ala)	NC_000004.11:g.79440557C>G	VUS	1 lab	7c6b5734d2
15:85370788 ALPK3 C>T	15	85370788	85370788	C	T	ALPK3	c.256C>T	NM_020778.5	NP_065829.4:p.(Arg86Trp)	NC_000015.9:g.85370788C>T	VUS	1 lab	7c6d937b96
11:108199851 ATM A>G	11	108199851	108199851	A	G	ATM	c.7193A>G	NM_000051.4	NP_000042.3:p.(Tyr2398Cys)	NC_000011.9:g.108199851A>G	VUS	1 lab	7c723609f5
22:31333901 MORC2 T>C	22	31333901	31333901	T	C	MORC2	c.1270A>G	NM_001303256.3	NP_001290185.1:p.(Thr424Ala)	NC_000022.10:g.31333901T>C	VUS	1 lab	7c7679df2f
15:34072528 RYR3 C>G	15	34072528	34072528	C	G	RYR3	c.9254C>G	NM_001036.6	NP_001027.3:p.(Pro3085Arg)	NC_000015.9:g.34072528C>G	(Likely) benign	1 lab	7c7a2e1031
19:41350664 CYP2A6 A>T	19	41350664	41350664	A	T	CYP2A6	c.1175=	NM_000762.6	NP_000753.3:p.(Tyr392=)	NC_000019.9:g.41350664A>T	(Likely) benign	1 lab	7c831da68c
2:11959716 LPIN1 C>T	2	11959716	11959716	C	T	LPIN1	c.2401C>T	NM_145693.4	NP_663731.1:p.(Arg801Ter)	NC_000002.11:g.11959716C>T	(Likely) pathogenic	1 lab	7c87fdb29a
9:131001797 DNM1 G>A	9	131001797	131001797	G	A	DNM1	c.1493+3G>A	NM_004408.4	NP_004399.2:p.?	NC_000009.11:g.131001797G>A	(Likely) benign	1 lab	7c88d43957
4:10022981 SLC2A9 C>T	4	10022981	10022981	C	T	SLC2A9	c.73G>A	NM_020041.3	NP_064425.2:p.(Gly25Arg)	NC_000004.11:g.10022981C>T	(Likely) benign	1 lab	7c8c3becc4
1:215792630 KCTD3 C>CTAG	1	215792630	215792633	C	CTAG	KCTD3	c.1884_1886dup	NM_016121.5	NP_057205.2:p.(Ser629dup)	NC_000001.10:g.215792631_215792633dup	VUS	1 lab	7c8d624c17
19:39421388 SARS2 A>G	19	39421388	39421388	A	G	SARS2	c.-12T>C	NM_001145901.2	NP_001139373.1:p.?	NC_000019.9:g.39421388A>G	(Likely) benign	1 lab	7c91dd02d2
1:8390923 SLC45A1 T>C	1	8390923	8390923	T	C	SLC45A1	c.1370T>C	NM_001080397.3	NP_001073866.3:p.(Leu457Ser)	NC_000001.10:g.8390923T>C	VUS	1 lab	7c92399cf2
6:117997104 NUS1 G>A	6	117997104	117997104	G	A	NUS1	c.271G>A	NM_138459.5	NP_612468.1:p.(Gly91Ser)	NC_000006.11:g.117997104G>A	VUS	1 lab	7c95f7d1c1
1:112329666 KCND3 C>T	1	112329666	112329666	C	T	KCND3	c.1169G>A	NM_004980.5	NP_004971.2:p.(Ser390Asn)	NC_000001.10:g.112329666C>T	(Likely) pathogenic	1 lab	7c98d25ac0
1:6195338 CHD5 G>A	1	6195338	6195338	G	A	CHD5	c.2822C>T	NM_015557.3	NP_056372.1:p.(Pro941Leu)	NC_000001.10:g.6195338G>A	(Likely) pathogenic	1 lab	7ca23b8d1f
3:123428632 MYLK C>T	3	123428632	123428632	C	T	MYLK	c.1913G>A	NM_053025.4	NP_444253.3:p.(Ser638Asn)	NC_000003.11:g.123428632C>T	VUS	1 lab	7ca5d825b2
10:12130995 DHTKD1 G>A	10	12130995	12130995	G	A	DHTKD1	c.728G>A	NM_018706.7	NP_061176.4:p.(Arg243His)	NC_000010.10:g.12130995G>A	VUS	1 lab	7caa4bbcd8
17:11837194 DNAH9 C>G	17	11837194	11837194	C	G	DNAH9	c.12298-3C>G	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11837194C>G	VUS	1 lab	7cb22fdb15
11:26538450 ANO3 G>A	11	26538450	26538450	G	A	ANO3	c.668G>A	NM_031418.4	NP_113606.2:p.(Arg223Lys)	NC_000011.9:g.26538450G>A	VUS	1 lab	7cb8b2901d
1:160000569 PIGM T>C	1	160000569	160000569	T	C	PIGM	c.961A>G	NM_145167.3	NP_660150.1:p.(Thr321Ala)	NC_000001.10:g.160000569T>C	VUS	1 lab	7cbbe522ee
1:10719987 CASZ1 C>A	1	10719987	10719987	C	A	CASZ1	c.1112G>T	NM_001079843.3	NP_001073312.1:p.(Gly371Val)	NC_000001.10:g.10719987C>A	VUS	1 lab	7cc295ff09
3:25639825 TOP2B ATCT>A	3	25639825	25639836	ATCT	A	TOP2B	c.4836_4838del	NM_001068.3	NP_001059.2:p.(Glu1612del)	NC_000003.11:g.25639834_25639836del	VUS	1 lab	7cc647df0a
X:107381340 ATG4A C>T	X	107381340	107381340	C	T	ATG4A	c.736-3C>T	NM_052936.5	NP_443168.2:p.?	NC_000023.10:g.107381340C>T	(Likely) benign	1 lab	7cceb0071e
16:9857614 GRIN2A C>T	16	9857614	9857614	C	T	GRIN2A	c.3787G>A	NM_001134407.3	NP_001127879.1:p.(Gly1263Arg)	NC_000016.9:g.9857614C>T	(Likely) benign	1 lab	7cd10e265f
16:23536684 EARS2 T>C	16	23536684	23536684	T	C	EARS2	c.1369A>G	NM_001083614.2	NP_001077083.1:p.(Ser457Gly)	NC_000016.9:g.23536684T>C	(Likely) benign	1 lab	7cd2df2a6a
1:207500165 CD55 C>T	1	207500165	207500165	C	T	CD55	c.647C>T	NM_000574.5	NP_000565.1:p.(Pro216Leu)	NC_000001.10:g.207500165C>T	(Likely) benign	1 lab	7cd82d457f
6:152777819 SYNE1 G>A	6	152777819	152777819	G	A	SYNE1	c.2569-640C>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152777819G>A	(Likely) benign	1 lab	7cdfdab485
6:7581743 DSP CAGAG>C	6	7581743	7581753	CAGAG	C	DSP	c.5327_5330del	NM_004415.4	NP_004406.2:p.(Glu1776GlyfsTer4)	NC_000006.11:g.7581750_7581753del	(Likely) pathogenic	1 lab	7ce0154208
3:186505772 EIF4A2 A>G	3	186505772	186505772	A	G	EIF4A2	c.1079+101A>G	NM_001967.4	NP_001958.2:p.?	NC_000003.11:g.186505772A>G	(Likely) benign	1 lab	7ce3747547
17:7577022 TP53 G>A	17	7577022	7577022	G	A	TP53	c.916C>T	NM_000546.6	NP_000537.3:p.(Arg306Ter)	NC_000017.10:g.7577022G>A	(Likely) pathogenic	1 lab	7ce4fbb890
13:40230294 COG6 T>C	13	40230294	40230294	T	C	COG6	c.153+278T>C	NM_001145079.2	NP_001138551.1:p.?	NC_000013.10:g.40230294T>C	(Likely) benign	1 lab	7cf15ef271
11:108216496 ATM GA>G	11	108216496	108216499	GA	G	ATM	c.8448del	NM_000051.4	NP_000042.3:p.(Lys2816AsnfsTer41)	NC_000011.9:g.108216499del	(Likely) pathogenic	1 lab	7cf22c68d4
22:37333794 CSF2RB A>G	22	37333794	37333794	A	G	CSF2RB	c.1944A>G	NM_000395.3	NP_000386.1:p.(Pro648=)	NC_000022.10:g.37333794A>G	(Likely) benign	1 lab	7cf67273d1
16:31497521 SLC5A2 CA>C	16	31497521	31497522	CA	C	SLC5A2	c.500del	NM_003041.4	NP_003032.1:p.(Gln167ArgfsTer20)	NC_000016.9:g.31497522del	(Likely) pathogenic	1 lab	7cf8b51967
13:35731345 NBEA A>G	13	35731345	35731345	A	G	NBEA	c.2782A>G	NM_015678.5	NP_056493.3:p.(Ile928Val)	NC_000013.10:g.35731345A>G	VUS	1 lab	7cfe2585f9
X:153792246 IKBKG G>A	X	153792246	153792246	G	A	IKBKG	c.1117+11G>A	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153792246G>A	(Likely) benign	1 lab	7d01d706c1
15:85401157 ALPK3 G>A	15	85401157	85401157	G	A	ALPK3	c.3188G>A	NM_020778.5	NP_065829.4:p.(Gly1063Asp)	NC_000015.9:g.85401157G>A	VUS	1 lab	7d06d92ae4
12:32975411 PKP2 T>C	12	32975411	32975411	T	C	PKP2	c.1961A>G	NM_004572.4	NP_004563.2:p.(Lys654Arg)	NC_000012.11:g.32975411T>C	VUS	1 lab	7d06d93605
19:42794107 CIC A>AG	19	42794107	42794110	A	AG	CIC	c.1464+7dup	NM_015125.5	NP_055940.3:p.?	NC_000019.9:g.42794110dup	(Likely) benign	1 lab	7d0772f7da
4:155533337 FGG G>A	4	155533337	155533337	G	A	FGG	c.140C>T	NM_000509.6	NP_000500.2:p.(Thr47Ile)	NC_000004.11:g.155533337G>A	VUS	1 lab	7d083d76f8
1:46659941 POMGNT1 C>A	1	46659941	46659941	C	A	POMGNT1	c.879+5G>T	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46659941C>A	(Likely) pathogenic	1 lab	7d0be191d0
2:15307264 NBAS C>T	2	15307264	15307264	C	T	NBAS	c.7024G>A	NM_015909.4	NP_056993.2:p.(Glu2342Lys)	NC_000002.11:g.15307264C>T	VUS	1 lab	7d133220be
9:2056667 SMARCA2 G>A	9	2056667	2056667	G	A	SMARCA2	c.1174-5G>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2056667G>A	(Likely) benign	1 lab	7d16eb6caf
X:54040956 PHF8 G>GTA	X	54040956	54040957	G	GTA	PHF8	c.636_637insTA	NM_015107.3	NP_055922.1:p.(Leu213TyrfsTer26)	NC_000023.10:g.54040956_54040957insTA	(Likely) pathogenic	1 lab	7d184b04e4
18:28934674 DSG1 G>A	18	28934674	28934674	G	A	DSG1	c.2515G>A	NM_001942.4	NP_001933.2:p.(Glu839Lys)	NC_000018.9:g.28934674G>A	VUS	1 lab	7d19f84891
17:60140566 MED13 T>C	17	60140566	60140566	T	C	MED13	c.163A>G	NM_005121.3	NP_005112.2:p.(Ser55Gly)	NC_000017.10:g.60140566T>C	VUS	1 lab	7d1bac2271
3:75986719 ROBO2 G>C	3	75986719	75986719	G	C	ROBO2	c.75G>C	NM_001128929.3	NP_001122401.1:p.(Val25=)	NC_000003.11:g.75986719G>C	(Likely) benign	1 lab	7d1e3c390e
12:89866054 POC1B TAGAAAGAAGA>T	12	89866054	89866074	TAGAAAGAAGA	T	POC1B	c.453-12_453-3del	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89866065_89866074del	(Likely) benign	1 lab	7d1f0e5d08
12:49420613 KMT2D GC>G	12	49420613	49420616	GC	G	KMT2D	c.15135del	NM_003482.4	NP_003473.3:p.(Pro5046LeufsTer5)	NC_000012.11:g.49420616del	(Likely) pathogenic	1 lab	7d211c0053
17:41226398 BRCA1 G>C	17	41226398	41226398	G	C	BRCA1	c.4625C>G	NM_007294.4	NP_009225.1:p.(Ser1542Cys)	NC_000017.10:g.41226398G>C	VUS	1 lab	7d2134b2e1
17:16855878 TNFRSF13B C>T	17	16855878	16855878	C	T	TNFRSF13B	c.81G>A	NM_012452.3	NP_036584.1:p.(Thr27=)	NC_000017.10:g.16855878C>T	(Likely) benign	1 lab	7d21f43916
7:103205735 RELN G>C	7	103205735	103205735	G	C	RELN	c.5200C>G	NM_005045.4	NP_005036.2:p.(Leu1734Val)	NC_000007.13:g.103205735G>C	VUS	1 lab	7d26699ec6
7:142458566 PRSS1 G>A	7	142458566	142458566	G	A	PRSS1	c.200+1G>A	NM_002769.5	NP_002760.1:p.?	NC_000007.13:g.142458566G>A	VUS	1 lab	7d283481e2
11:64360274 SLC22A12 T>C	11	64360274	64360274	T	C	SLC22A12	c.426T>C	NM_144585.4	NP_653186.2:p.(His142=)	NC_000011.9:g.64360274T>C	(Likely) benign	1 lab	7d2bb63ff3
8:21984650 HR A>G	8	21984650	21984650	A	G	HR	c.1305T>C	NM_005144.5	NP_005135.2:p.(Phe435=)	NC_000008.10:g.21984650A>G	(Likely) benign	1 lab	7d345e61a8
19:14037695 CC2D1A G>A	19	14037695	14037695	G	A	CC2D1A	c.2125+10G>A	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14037695G>A	(Likely) benign	1 lab	7d3619ae0d
15:74476340 STRA6 G>C	15	74476340	74476340	G	C	STRA6	c.1284-10C>G	NM_001199042.2	NP_001185971.1:p.?	NC_000015.9:g.74476340G>C	(Likely) benign	1 lab	7d3629e8bb
10:105801253 COL17A1 G>A	10	105801253	105801253	G	A	COL17A1	c.2595C>T	NM_000494.4	NP_000485.3:p.(Arg865=)	NC_000010.10:g.105801253G>A	(Likely) benign	1 lab	7d38c54b01
7:100285430 GIGYF1 G>A	7	100285430	100285430	G	A	GIGYF1	c.242C>T	NM_001375765.1	NP_001362694.1:p.(Pro81Leu)	NC_000007.13:g.100285430G>A	VUS	1 lab	7d3bf0bbe9
1:160095043 ATP1A2 G>A	1	160095043	160095043	G	A	ATP1A2	c.748G>A	NM_000702.4	NP_000693.1:p.(Gly250Ser)	NC_000001.10:g.160095043G>A	VUS	1 lab	7d438e89d0
X:153667476 GDI1 C>T	X	153667476	153667476	C	T	GDI1	c.378C>T	NM_001493.3	NP_001484.1:p.(Ala126=)	NC_000023.10:g.153667476C>T	(Likely) benign	1 lab	7d4a88405f
11:65112075 DPF2 C>T	11	65112075	65112075	C	T	DPF2	c.662C>T	NM_001330308.2	NP_001317237.1:p.(Ser221Leu)	NC_000011.9:g.65112075C>T	VUS	1 lab	7d4c7ca603
17:26094751 NOS2 T>A	17	26094751	26094751	T	A	NOS2	c.2147A>T	NM_000625.4	NP_000616.3:p.(Gln716Leu)	NC_000017.10:g.26094751T>A	VUS	1 lab	7d4c800ac7
2:179665415 TTN G>A	2	179665415	179665415	G	A	TTN	c.296-6C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179665415G>A	(Likely) benign	1 lab	7d4caf8e69
8:133622443 DNAAF11 G>C	8	133622443	133622443	G	C	DNAAF11	c.1109C>G	NM_012472.6	NP_036604.2:p.(Thr370Arg)	NC_000008.10:g.133622443G>C	VUS	1 lab	7d4dbcda21
19:46274661 DMPK G>A	19	46274661	46274661	G	A	DMPK	c.1631-7C>T	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46274661G>A	(Likely) benign	1 lab	7d5097f764
5:178412273 GRM6 T>C	5	178412273	178412273	T	C	GRM6	c.2124+858A>G	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178412273T>C	(Likely) benign	1 lab	7d5354c665
16:29811319 KIF22 C>T	16	29811319	29811319	C	T	KIF22	c.1026C>T	NM_001256270.1	NP_001243199.1:p.(Ile342=)	NC_000016.9:g.29811319C>T	(Likely) benign	1 lab	7d58125c31
5:94850574 SKIC3 C>G	5	94850574	94850574	C	G	SKIC3	c.2688G>C	NM_014639.4	NP_055454.1:p.(Met896Ile)	NC_000005.9:g.94850574C>G	VUS	1 lab	7d5d6c3071
2:98736075 VWA3B C>T	2	98736075	98736075	C	T	VWA3B	c.391C>T	NM_144992.5	NP_659429.4:p.(Arg131Trp)	NC_000002.11:g.98736075C>T	VUS	1 lab	7d5f7e330f
11:47362686 MYBPC3 C>T	11	47362686	47362686	C	T	MYBPC3	c.1897+3G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362686C>T	(Likely) benign	1 lab	7d616d1802
17:61566031 ACE G>A	17	61566031	61566031	G	A	ACE	c.2328G>A	NM_000789.4	NP_000780.1:p.(Thr776=)	NC_000017.10:g.61566031G>A	(Likely) benign	1 lab	7d67447af5
X:150154530 HMGB3 T>C	X	150154530	150154530	T	C	HMGB3	c.157T>C	NM_005342.4	NP_005333.2:p.(Ser53Pro)	NC_000023.10:g.150154530T>C	VUS	1 lab	7d67960581
19:33467427 FAAP24 G>A	19	33467427	33467427	G	A	FAAP24	c.487G>A	NM_152266.5	NP_689479.1:p.(Val163Met)	NC_000019.9:g.33467427G>A	VUS	1 lab	7d6a17e94d
2:112754880 MERTK G>A	2	112754880	112754880	G	A	MERTK	c.1451-20G>A	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112754880G>A	(Likely) benign	1 lab	7d6a4cb54f
6:41562647 FOXP4 G>A	6	41562647	41562647	G	A	FOXP4	c.1576G>A	NM_001012426.2	NP_001012426.1:p.(Val526Ile)	NC_000006.11:g.41562647G>A	VUS	1 lab	7d6ad432b4
1:160314599 NCSTN A>G	1	160314599	160314599	A	G	NCSTN	c.173A>G	NM_015331.3	NP_056146.1:p.(His58Arg)	NC_000001.10:g.160314599A>G	VUS	1 lab	7d6c39429f
X:76919002 ATRX T>C	X	76919002	76919002	T	C	ATRX	c.3989A>G	NM_000489.6	NP_000480.3:p.(Glu1330Gly)	NC_000023.10:g.76919002T>C	VUS	1 lab	7d74461285
13:35738605 NBEA G>T	13	35738605	35738605	G	T	NBEA	c.4192G>T	NM_015678.5	NP_056493.3:p.(Gly1398Ter)	NC_000013.10:g.35738605G>T	(Likely) pathogenic	1 lab	7d78fb86cb
X:70627502 TAF1 G>A	X	70627502	70627502	G	A	TAF1	c.4186G>A	NM_004606.5	NP_004597.3:p.(Asp1396Asn)	NC_000023.10:g.70627502G>A	VUS	1 lab	7d7a718db3
8:41574548 ANK1 T>C	8	41574548	41574548	T	C	ANK1	c.1327A>G	NM_000037.4	NP_000028.3:p.(Met443Val)	NC_000008.10:g.41574548T>C	VUS	1 lab	7d7f6fc607
14:74759006 ABCD4 C>T	14	74759006	74759006	C	T	ABCD4	c.1102G>A	NM_005050.4	NP_005041.1:p.(Glu368Lys)	NC_000014.8:g.74759006C>T	(Likely) benign	1 lab	7d85a0a2ab
2:25384457 POMC G>T	2	25384457	25384457	G	T	POMC	c.297C>A	NM_001035256.3	NP_001030333.1:p.(Gly99=)	NC_000002.11:g.25384457G>T	(Likely) benign	1 lab	7d885de5c4
3:50357969 HYAL2 G>C	3	50357969	50357969	G	C	HYAL2	c.-46-3C>G	NM_033158.5	NP_149348.2:p.?	NC_000003.11:g.50357969G>C	VUS	1 lab	7d88c0726a
18:32392092 DTNA T>C	18	32392092	32392092	T	C	DTNA	c.603+15T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32392092T>C	(Likely) benign	1 lab	7d8b42a6d1
4:73941995 ANKRD17 G>C	4	73941995	73941995	G	C	ANKRD17	c.7426C>G	NM_001286771.3	NP_001273700.1:p.(Pro2476Ala)	NC_000004.11:g.73941995G>C	(Likely) benign	1 lab	7d8b436296
8:145008841 PLEC C>T	8	145008841	145008841	C	T	PLEC	c.1084G>A	NM_000445.5	NP_000436.2:p.(Asp362Asn)	NC_000008.10:g.145008841C>T	VUS	1 lab	7d8c61b8ba
5:150647012 GM2A A>G	5	150647012	150647012	A	G	GM2A	c.582A>G	NM_000405.5	NP_000396.2:p.(Ter194=)	NC_000005.9:g.150647012A>G	(Likely) benign	1 lab	7d8e4336f3
7:117243750 CFTR T>C	7	117243750	117243750	T	C	CFTR	c.2822T>C	NM_000492.4	NP_000483.3:p.(Leu941Pro)	NC_000007.13:g.117243750T>C	VUS	1 lab	7d8e900d21
1:152084372 TCHH CCTGCTCGTGCTT>C	1	152084372	152084394	CCTGCTCGTGCTT	C	TCHH	c.1309_1320del	NM_007113.4	NP_009044.2:p.(Lys437_Gln440del)	NC_000001.10:g.152084383_152084394del	VUS	1 lab	7d9075ba39
10:64949103 JMJD1C T>A	10	64949103	64949103	T	A	JMJD1C	c.6395A>T	NM_032776.3	NP_116165.1:p.(Lys2132Ile)	NC_000010.10:g.64949103T>A	VUS	1 lab	7d90b6a1c4
11:2192936 TH C>A	11	2192936	2192936	C	A	TH	c.81G>T	NM_199292.3	NP_954986.2:p.(Glu27Asp)	NC_000011.9:g.2192936C>A	VUS	1 lab	7d9997f812
5:176831096 F12 G>A	5	176831096	176831096	G	A	F12	c.1019-5C>T	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176831096G>A	(Likely) benign	1 lab	7d9a6c253d
X:119571751 LAMP2 C>T	X	119571751	119571751	C	T	LAMP2	c.1093+3834G>A	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119571751C>T	VUS	1 lab	7d9c43587c
14:95566262 DICER1 C>T	14	95566262	95566262	C	T	DICER1	c.4061G>A	NM_177438.3	NP_803187.1:p.(Cys1354Tyr)	NC_000014.8:g.95566262C>T	VUS	1 lab	7d9f19cb0a
1:237957175 RYR2 G>T	1	237957175	237957175	G	T	RYR2	c.13791G>T	NM_001035.3	NP_001026.2:p.(Leu4597Phe)	NC_000001.10:g.237957175G>T	VUS	1 lab	7da517c532
11:118352717 KMT2A C>T	11	118352717	118352717	C	T	KMT2A	c.3922C>T	NM_001197104.2	NP_001184033.1:p.(Gln1308Ter)	NC_000011.9:g.118352717C>T	(Likely) pathogenic	1 lab	7daa645063
12:49298799 DRC2 T>C	12	49298799	49298799	T	C	DRC2	c.203T>C	NM_033124.5	NP_149115.2:p.(Val68Ala)	NC_000012.11:g.49298799T>C	VUS	1 lab	7db08997be
9:130953034 CIZ1 A>ACTG	9	130953034	130953047	A	ACTG	CIZ1	c.190_192dup	NM_001257975.2	NP_001244904.1:p.(Gln64dup)	NC_000009.11:g.130953045_130953047dup	VUS	1 lab	7db1b22c6c
X:130410039 IGSF1 G>A	X	130410039	130410039	G	A	IGSF1	c.2807C>T	NM_001170961.2	NP_001164432.1:p.(Thr936Ile)	NC_000023.10:g.130410039G>A	VUS	1 lab	7db1f20ee4
6:29910717 HLA-A A>G	6	29910717	29910717	A	G	HLA-A	c.257A>G	NM_002116.8	NP_002107.3:p.(Gln86Arg)	NC_000006.11:g.29910717A>G	(Likely) benign	1 lab	7db7045aa5
16:74752984 FA2H CGAT>C	16	74752984	74752989	CGAT	C	FA2H	c.685_687del	NM_024306.5	NP_077282.3:p.(Ile229del)	NC_000016.9:g.74752987_74752989del	VUS	1 lab	7db940005d
2:179547937 TTN C>T	2	179547937	179547937	C	T	TTN	c.32887+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179547937C>T	VUS	1 lab	7dc6e072cd
5:126168433 LMNB1 AGAG>A	5	126168433	126168447	AGAG	A	LMNB1	c.1671_1673del	NM_005573.4	NP_005564.1:p.(Glu559del)	NC_000005.9:g.126168445_126168447del	VUS	1 lab	7dc7949066
2:15519953 NBAS T>C	2	15519953	15519953	T	C	NBAS	c.3363A>G	NM_015909.4	NP_056993.2:p.(Ile1121Met)	NC_000002.11:g.15519953T>C	(Likely) pathogenic	1 lab	7dca1ae969
15:45392025 DUOX2 G>A	15	45392025	45392025	G	A	DUOX2	c.3250C>T	NM_014080.5	NP_054799.4:p.(Arg1084Ter)	NC_000015.9:g.45392025G>A	(Likely) pathogenic	1 lab	7dcb4e5ac6
6:56346932 DST C>T	6	56346932	56346932	C	T	DST	c.15090G>A	NM_001144769.5	NP_001138241.1:p.(Leu5030=)	NC_000006.11:g.56346932C>T	(Likely) benign	1 lab	7dcb90563b
21:34799350 IFNGR2 C>G	21	34799350	34799350	C	G	IFNGR2	c.561+11C>G	NM_005534.4	NP_005525.2:p.?	NC_000021.8:g.34799350C>G	(Likely) benign	1 lab	7dcb9d37a9
6:18139214 TPMT G>A	6	18139214	18139214	G	A	TPMT	c.474C>T	NM_000367.5	NP_000358.1:p.(Ile158=)	NC_000006.11:g.18139214G>A	(Likely) benign	1 lab	7dd2f5433a
X:70775164 OGT G>A	X	70775164	70775164	G	A	OGT	c.853G>A	NM_181672.3	NP_858058.1:p.(Ala285Thr)	NC_000023.10:g.70775164G>A	VUS	1 lab	7ddd5335d3
13:28636084 FLT3 G>A	13	28636084	28636084	G	A	FLT3	c.288C>T	NM_004119.3	NP_004110.2:p.(Asp96=)	NC_000013.10:g.28636084G>A	(Likely) benign	1 lab	7dddbfb268
1:197026151 F13B T>A	1	197026151	197026151	T	A	F13B	c.1163A>T	NM_001994.3	NP_001985.2:p.(Glu388Val)	NC_000001.10:g.197026151T>A	VUS	1 lab	7ddece56cf
6:157100559 ARID1B C>G	6	157100559	157100559	C	G	ARID1B	c.1745C>G	NM_001371656.1	NP_001358585.1:p.(Pro582Arg)	NC_000006.11:g.157100559C>G	VUS	1 lab	7de0260f96
15:99192893 IGF1R C>T	15	99192893	99192893	C	T	IGF1R	c.83C>T	NM_000875.5	NP_000866.1:p.(Thr28Met)	NC_000015.9:g.99192893C>T	VUS	1 lab	7de1b9b8e7
1:8555196 RERE C>A	1	8555196	8555196	C	A	RERE	c.1031G>T	NM_012102.4	NP_036234.3:p.(Cys344Phe)	NC_000001.10:g.8555196C>A	VUS	1 lab	7de6f488be
6:88273969 RARS2 A>C	6	88273969	88273969	A	C	RARS2	c.111-19T>G	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88273969A>C	(Likely) benign	1 lab	7df08e8d62
10:73580002 PSAP T>A	10	73580002	73580002	T	A	PSAP	c.1009A>T	NM_001042465.3	NP_001035930.1:p.(Thr337Ser)	NC_000010.10:g.73580002T>A	(Likely) benign	1 lab	7df640451f
16:8858580 ABAT T>A	16	8858580	8858580	T	A	ABAT	c.448-15T>A	NM_000663.5	NP_000654.2:p.?	NC_000016.9:g.8858580T>A	(Likely) benign	1 lab	7df90e1cf2
11:1954966 TNNT3 C>A	11	1954966	1954966	C	A	TNNT3	c.187C>A	NM_006757.4	NP_006748.1:p.(Arg63Ser)	NC_000011.9:g.1954966C>A	(Likely) pathogenic	1 lab	7e01389be8
13:41382583 SLC25A15 C>T	13	41382583	41382583	C	T	SLC25A15	c.632C>T	NM_014252.4	NP_055067.1:p.(Pro211Leu)	NC_000013.10:g.41382583C>T	VUS	1 lab	7e0f987531
13:52509814 ATP7B C>T	13	52509814	52509814	C	T	ATP7B	c.4039G>A	NM_000053.4	NP_000044.2:p.(Gly1347Ser)	NC_000013.10:g.52509814C>T	VUS	1 lab	7e101c3725
13:32907003 BRCA2 CAG>C	13	32907003	32907005	CAG	C	BRCA2	c.1389_1390del	NM_000059.4	NP_000050.3:p.(Val464GlyfsTer3)	NC_000013.10:g.32907004_32907005del	(Likely) pathogenic	1 lab	7e19ad586b
11:22242727 ANO5 G>T	11	22242727	22242727	G	T	ANO5	c.265G>T	NM_213599.3	NP_998764.1:p.(Asp89Tyr)	NC_000011.9:g.22242727G>T	VUS	1 lab	7e1a6da597
1:43396302 SLC2A1 C>T	1	43396302	43396302	C	T	SLC2A1	c.511G>A	NM_006516.4	NP_006507.2:p.(Ala171Thr)	NC_000001.10:g.43396302C>T	VUS	1 lab	7e1bbb6bd0
8:100791246 VPS13B A>C	8	100791246	100791246	A	C	VPS13B	c.7841A>C	NM_017890.5	NP_060360.3:p.(Gln2614Pro)	NC_000008.10:g.100791246A>C	VUS	1 lab	7e1fa2ffae
2:191941054 STAT4 G>GA	2	191941054	191941064	G	GA	STAT4	c.274-4dup	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191941064dup	(Likely) benign	1 lab	7e21dba720
16:89347212 ANKRD11 G>T	16	89347212	89347212	G	T	ANKRD11	c.5738C>A	NM_013275.6	NP_037407.4:p.(Thr1913Asn)	NC_000016.9:g.89347212G>T	(Likely) benign	1 lab	7e2241f89b
14:64625405 SYNE2 CTA>C	14	64625405	64625408	CTA	C	SYNE2	c.15857_15858del	NM_182914.3	NP_878918.2:p.(Tyr5286Ter)	NC_000014.8:g.64625407_64625408del	VUS	1 lab	7e283b3fd5
2:60688968 BCL11A A>AG	2	60688968	60688975	A	AG	BCL11A	c.1078dup	NM_022893.4	NP_075044.2:p.(Leu360ProfsTer212)	NC_000002.11:g.60688975dup	VUS	1 lab	7e297f3d6b
1:27876840 AHDC1 G>A	1	27876840	27876840	G	A	AHDC1	c.1787C>T	NM_001029882.3	NP_001025053.1:p.(Ser596Phe)	NC_000001.10:g.27876840G>A	VUS	1 lab	7e299b1e3e
18:72345352 ZNF407 G>A	18	72345352	72345352	G	A	ZNF407	c.2377G>A	NM_017757.3	NP_060227.2:p.(Gly793Arg)	NC_000018.9:g.72345352G>A	VUS	1 lab	7e2a5e1a30
1:152324432 FLG2 C>T	1	152324432	152324432	C	T	FLG2	c.5830G>A	NM_001014342.3	NP_001014364.1:p.(Gly1944Arg)	NC_000001.10:g.152324432C>T	VUS	1 lab	7e2b5890a0
16:70514965 COG4 A>G	16	70514965	70514965	A	G	COG4	c.2318T>C	NM_015386.3	NP_056201.2:p.(Leu773Pro)	NC_000016.9:g.70514965A>G	VUS	1 lab	7e3757127b
5:90281201 ADGRV1 A>G	5	90281201	90281201	A	G	ADGRV1	c.18014A>G	NM_032119.4	NP_115495.3:p.(His6005Arg)	NC_000005.9:g.90281201A>G	VUS	1 lab	7e38dc13bb
17:7605081 WRAP53 G>A	17	7605081	7605081	G	A	WRAP53	c.929G>A	NM_018081.2	NP_060551.2:p.(Arg310Gln)	NC_000017.10:g.7605081G>A	VUS	1 lab	7e3fd933de
11:118347520 KMT2A G>A	11	118347520	118347520	G	A	KMT2A	c.3157G>A	NM_001197104.2	NP_001184033.1:p.(Gly1053Ser)	NC_000011.9:g.118347520G>A	VUS	1 lab	7e40164c14
13:43155443 TNFSF11 G>A	13	43155443	43155443	G	A	TNFSF11	c.168+14G>A	NM_033012.4	NP_143026.1:p.?	NC_000013.10:g.43155443G>A	(Likely) benign	1 lab	7e4ae6dca2
6:43640099 MRPS18A A>G	6	43640099	43640099	A	G	MRPS18A	c.447-456T>C	NM_018135.4	NP_060605.1:p.?	NC_000006.11:g.43640099A>G	(Likely) benign	1 lab	7e568aee2a
11:6644598 DCHS1 C>T	11	6644598	6644598	C	T	DCHS1	c.8309G>A	NM_003737.4	NP_003728.1:p.(Arg2770Gln)	NC_000011.9:g.6644598C>T	VUS	1 lab	7e5aa87368
1:43787367 TIE1 G>A	1	43787367	43787367	G	A	TIE1	c.3326G>A	NM_005424.5	NP_005415.1:p.(Arg1109His)	NC_000001.10:g.43787367G>A	(Likely) benign	1 lab	7e5ac44693
6:137525626 IFNGR1 G>A	6	137525626	137525626	G	A	IFNGR1	c.389C>T	NM_000416.3	NP_000407.1:p.(Pro130Leu)	NC_000006.11:g.137525626G>A	VUS	1 lab	7e60695cb3
11:68206003 LRP5 G>A	11	68206003	68206003	G	A	LRP5	c.4201G>A	NM_002335.4	NP_002326.2:p.(Gly1401Ser)	NC_000011.9:g.68206003G>A	VUS	1 lab	7e60e91ff3
3:48604428 COL7A1 C>A	3	48604428	48604428	C	A	COL7A1	c.8138G>T	NM_000094.4	NP_000085.1:p.(Gly2713Val)	NC_000003.11:g.48604428C>A	(Likely) pathogenic	1 lab	7e6133348d
9:328087 DOCK8 G>A	9	328087	328087	G	A	DOCK8	c.960G>A	NM_203447.4	NP_982272.2:p.(Thr320=)	NC_000009.11:g.328087G>A	(Likely) benign	1 lab	7e61eac0d0
22:28192805 MN1 TGTC>T	22	28192805	28192814	TGTC	T	MN1	c.3724_3726del	NM_002430.3	NP_002421.3:p.(Asp1242del)	NC_000022.10:g.28192812_28192814del	VUS	1 lab	7e6875f8ad
2:8930024 KIDINS220 A>ATG	2	8930024	8930025	A	ATG	KIDINS220	c.1606_1607insCA	NM_020738.4	NP_065789.1:p.(Leu536SerfsTer43)	NC_000002.11:g.8930024_8930025insTG	(Likely) pathogenic	1 lab	7e699bc02d
15:43533046 TGM5 TCA>T	15	43533046	43533049	TCA	T	TGM5	c.1001+2_1001+3del	NM_201631.4	NP_963925.2:p.?	NC_000015.9:g.43533048_43533049del	(Likely) pathogenic	1 lab	7e7609ad5c
12:49333526 ARF3 C>A	12	49333526	49333526	C	A	ARF3	c.296G>T	NM_001659.3	NP_001650.1:p.(Arg99Leu)	NC_000012.11:g.49333526C>A	(Likely) pathogenic	1 lab	7e76ee7149
1:152276885 FLG C>T	1	152276885	152276885	C	T	FLG	c.10477G>A	NM_002016.2	NP_002007.1:p.(Glu3493Lys)	NC_000001.10:g.152276885C>T	VUS	1 lab	7e819db780
1:235577893 TBCE GTGGAGA>G	1	235577893	235577899	GTGGAGA	G	TBCE	c.332_337del	NM_001287801.2	NP_001274730.1:p.(Val111_Thr113delinsAla)	NC_000001.10:g.235577894_235577899del	VUS	1 lab	7e81fa174c
15:34113739 RYR3 T>C	15	34113739	34113739	T	C	RYR3	c.10931T>C	NM_001036.6	NP_001027.3:p.(Met3644Thr)	NC_000015.9:g.34113739T>C	VUS	1 lab	7e8299c989
4:85600191 WDFY3 T>C	4	85600191	85600191	T	C	WDFY3	c.10028A>G	NM_014991.6	NP_055806.2:p.(Lys3343Arg)	NC_000004.11:g.85600191T>C	VUS	1 lab	7e86093464
14:67525501 GPHN G>A	14	67525501	67525501	G	A	GPHN	c.1142G>A	NM_020806.5	NP_065857.1:p.(Arg381Gln)	NC_000014.8:g.67525501G>A	VUS	1 lab	7e8617110b
10:10888122 CELF2 A>G	10	10888122	10888122	A	G	CELF2	c.-93-73805A>G	NM_001326319.2	NP_001313248.1:p.?	NC_000010.10:g.10888122A>G	VUS	1 lab	7e8bf17348
X:31196085 DMD G>C	X	31196085	31196085	G	C	DMD	c.10226C>G	NM_004006.3	NP_003997.2:p.(Pro3409Arg)	NC_000023.10:g.31196085G>C	VUS	1 lab	7e8f2ceb2f
6:33272855 TAPBP G>C	6	33272855	33272855	G	C	TAPBP	c.779C>G	NM_003190.5	NP_003181.3:p.(Thr260Arg)	NC_000006.11:g.33272855G>C	(Likely) benign	1 lab	7e8feeacb8
5:80109455 MSH3 G>T	5	80109455	80109455	G	T	MSH3	c.2708G>T	NM_002439.5	NP_002430.3:p.(Ser903Ile)	NC_000005.9:g.80109455G>T	VUS	1 lab	7e938af5d7
7:6063273 EIF2AK1 C>T	7	6063273	6063273	C	T	EIF2AK1	c.*1031G>A	NM_014413.4	NP_055228.2:p.?	NC_000007.13:g.6063273C>T	VUS	1 lab	7e9468ca1c
19:50119050 PRR12 G>C	19	50119050	50119050	G	C	PRR12	c.5071G>C	NM_020719.3	NP_065770.1:p.(Ala1691Pro)	NC_000019.9:g.50119050G>C	VUS	1 lab	7e98a7a856
16:89351283 ANKRD11 GAAGAAATGGTTTTCC>G	16	89351283	89351300	GAAGAAATGGTTTTCC	G	ANKRD11	c.1652_1666del	NM_001256182.2	NP_001243111.1:p.(Trp551_Ser555del)	NC_000016.9:g.89351286_89351300del	VUS	1 lab	7e9d851f5d
1:76216129 ACADM A>G	1	76216129	76216129	A	G	ACADM	c.850-7A>G	NM_000016.6	NP_000007.1:p.?	NC_000001.10:g.76216129A>G	(Likely) pathogenic	1 lab	7e9f004f10
16:30748653 SRCAP C>T	16	30748653	30748653	C	T	SRCAP	c.7292C>T	NM_006662.3	NP_006653.2:p.(Pro2431Leu)	NC_000016.9:g.30748653C>T	VUS	1 lab	7ea1ddd16f
3:64133217 PRICKLE2 TG>T	3	64133217	64133221	TG	T	PRICKLE2	c.948del	NM_198859.4	NP_942559.1:p.(Asn317MetfsTer36)	NC_000003.11:g.64133221del	VUS	1 lab	7ea34a2c3d
19:7705633 STXBP2 TC>T	19	7705633	7705634	TC	T	STXBP2	c.264del	NM_006949.4	NP_008880.2:p.(Asp90ThrfsTer29)	NC_000019.9:g.7705634del	(Likely) pathogenic	1 lab	7ea395f2af
8:16043667 MSR1 C>T	8	16043667	16043667	C	T	MSR1	c.-5+6440G>A	NM_138715.3	NP_619729.1:p.?	NC_000008.10:g.16043667C>T	(Likely) benign	1 lab	7eabc85847
19:13418982 CACNA1A A>T	19	13418982	13418982	A	T	CACNA1A	c.1865T>A	NM_001127222.2	NP_001120694.1:p.(Leu622Gln)	NC_000019.9:g.13418982A>T	(Likely) pathogenic	1 lab	7eb00265ba
10:69180714 CTNNA3 T>C	10	69180714	69180714	T	C	CTNNA3	c.579+100886A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69180714T>C	VUS	1 lab	7eb0a1a17f
3:47162531 SETD2 G>T	3	47162531	47162531	G	T	SETD2	c.3595C>A	NM_014159.7	NP_054878.5:p.(Gln1199Lys)	NC_000003.11:g.47162531G>T	VUS	1 lab	7eb6b06609
16:4764086 ANKS3 C>T	16	4764086	4764086	C	T	ANKS3	c.675G>A	NM_133450.4	NP_597707.1:p.(Ser225=)	NC_000016.9:g.4764086C>T	(Likely) benign	1 lab	7ecb3e77d4
1:9776680 PIK3CD G>A	1	9776680	9776680	G	A	PIK3CD	c.780+3G>A	NM_005026.5	NP_005017.3:p.?	NC_000001.10:g.9776680G>A	(Likely) benign	1 lab	7ecc4ccf89
12:12312072 LRP6 T>C	12	12312072	12312072	T	C	LRP6	c.2482A>G	NM_002336.3	NP_002327.2:p.(Ile828Val)	NC_000012.11:g.12312072T>C	(Likely) benign	1 lab	7ecd94e346
17:39723917 KRT9 CA>C	17	39723917	39723918	CA	C	KRT9	c.1479del	NM_000226.4	NP_000217.2:p.(Ser493ArgfsTer?)	NC_000017.10:g.39723918del	VUS	1 lab	7ece8fa5c8
X:66765516 AR C>A	X	66765516	66765516	C	A	AR	c.528C>A	NM_000044.6	NP_000035.2:p.(Ser176Arg)	NC_000023.10:g.66765516C>A	(Likely) benign	1 lab	7ecf56ca64
14:50649291 SOS2 T>C	14	50649291	50649291	T	C	SOS2	c.748A>G	NM_006939.4	NP_008870.2:p.(Ile250Val)	NC_000014.8:g.50649291T>C	VUS	1 lab	7ecfc3e0b4
6:52387719 TRAM2 T>C	6	52387719	52387719	T	C	TRAM2	c.185-6184A>G	NM_012288.4	NP_036420.1:p.?	NC_000006.11:g.52387719T>C	(Likely) benign	1 lab	7ecff539de
15:35083513 ACTC1 CACACACACACACA>C	15	35083513	35083526	CACACACACACACA	C	ACTC1	c.809-30_809-18del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083514_35083526del	(Likely) benign	1 lab	7ed0357f80
1:156107458 LMNA G>A	1	156107458	156107458	G	A	LMNA	c.1622G>A	NM_001282626.2	NP_001269555.1:p.(Arg541His)	NC_000001.10:g.156107458G>A	(Likely) pathogenic	1 lab	7ed244fa76
11:108205705 ATM A>T	11	108205705	108205705	A	T	ATM	c.8020A>T	NM_000051.4	NP_000042.3:p.(Thr2674Ser)	NC_000011.9:g.108205705A>T	VUS	1 lab	7ed333300a
6:158579396 SERAC1 T>A	6	158579396	158579396	T	A	SERAC1	c.-1A>T	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158579396T>A	VUS	1 lab	7ed40666bb
3:48629782 COL7A1 A>C	3	48629782	48629782	A	C	COL7A1	c.1093+2T>G	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48629782A>C	(Likely) pathogenic	1 lab	7ed897115f
X:32404450 DMD G>A	X	32404450	32404450	G	A	DMD	c.4651C>T	NM_004006.3	NP_003997.2:p.(His1551Tyr)	NC_000023.10:g.32404450G>A	VUS	1 lab	7edfc856da
9:130580474 ENG G>A	9	130580474	130580474	G	A	ENG	c.1611C>T	NM_000118.3	NP_000109.1:p.(Tyr537=)	NC_000009.11:g.130580474G>A	(Likely) benign	1 lab	7ee3bce325
5:178413616 GRM6 G>A	5	178413616	178413616	G	A	GRM6	c.1639C>T	NM_000843.4	NP_000834.2:p.(Arg547Cys)	NC_000005.9:g.178413616G>A	VUS	1 lab	7ee73bf668
2:54895652 SPTBN1 GGACAAAGAGAAA>G	2	54895652	54895675	GGACAAAGAGAAA	G	SPTBN1	c.7053_7064del	NM_003128.3	NP_003119.2:p.(Asp2352_Lys2355del)	NC_000002.11:g.54895664_54895675del	VUS	1 lab	7ee90a57db
2:178936614 PDE11A C>T	2	178936614	178936614	C	T	PDE11A	c.551G>A	NM_016953.4	NP_058649.3:p.(Arg184Gln)	NC_000002.11:g.178936614C>T	(Likely) benign	1 lab	7eef61e7c2
16:84193329 DNAAF1 A>G	16	84193329	84193329	A	G	DNAAF1	c.791A>G	NM_178452.6	NP_848547.4:p.(Tyr264Cys)	NC_000016.9:g.84193329A>G	VUS	1 lab	7eefb5b06c
17:16842912 TNFRSF13B A>G	17	16842912	16842912	A	G	TNFRSF13B	c.831T>C	NM_012452.3	NP_036584.1:p.(Ser277=)	NC_000017.10:g.16842912A>G	(Likely) benign	1 lab	7ef20b68b5
7:98528252 TRRAP C>A	7	98528252	98528252	C	A	TRRAP	c.3394-4C>A	NM_003496.4	NP_003487.1:p.?	NC_000007.13:g.98528252C>A	(Likely) benign	1 lab	7efac5864d
11:20673832 SLC6A5 C>A	11	20673832	20673832	C	A	SLC6A5	c.2071-3C>A	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20673832C>A	(Likely) benign	1 lab	7efb907a74
1:209964234 IRF6 T>C	1	209964234	209964234	T	C	IRF6	c.668-2A>G	NM_006147.4	NP_006138.1:p.?	NC_000001.10:g.209964234T>C	(Likely) pathogenic	1 lab	7efd1d0fee
22:38519243 PLA2G6 C>G	22	38519243	38519243	C	G	PLA2G6	c.1450G>C	NM_003560.4	NP_003551.2:p.(Asp484His)	NC_000022.10:g.38519243C>G	VUS	1 lab	7f02be7994
3:185229464 LIPH T>C	3	185229464	185229464	T	C	LIPH	c.1116A>G	NM_139248.3	NP_640341.1:p.(Lys372=)	NC_000003.11:g.185229464T>C	(Likely) benign	1 lab	7f045f4ba1
17:1635614 WDR81 T>C	17	1635614	1635614	T	C	WDR81	c.4158-5T>C	NM_001163809.2	NP_001157281.1:p.?	NC_000017.10:g.1635614T>C	(Likely) benign	1 lab	7f0aa7e222
12:49425823 KMT2D A>AGCTGCT	12	49425823	49425839	A	AGCTGCT	KMT2D	c.12659_12664dup	NM_003482.4	NP_003473.3:p.(Gln4220_Gln4221dup)	NC_000012.11:g.49425834_49425839dup	VUS	1 lab	7f0bc8c0ce
9:139391518 NOTCH1 G>A	9	139391518	139391518	G	A	NOTCH1	c.6673C>T	NM_017617.5	NP_060087.3:p.(Gln2225Ter)	NC_000009.11:g.139391518G>A	(Likely) pathogenic	1 lab	7f0c4f76bb
1:161326531 SDHC T>C	1	161326531	161326531	T	C	SDHC	c.306T>C	NM_003001.5	NP_002992.1:p.(Leu102=)	NC_000001.10:g.161326531T>C	(Likely) benign	1 lab	7f0ef6bc94
2:190428601 SLC40A1 G>A	2	190428601	190428601	G	A	SLC40A1	c.1111C>T	NM_014585.6	NP_055400.1:p.(Arg371Trp)	NC_000002.11:g.190428601G>A	(Likely) benign	1 lab	7f16504528
20:57484421 GNAS G>A	20	57484421	57484421	G	A	GNAS	c.602G>A	NM_000516.7	NP_000507.1:p.(Arg201His)	NC_000020.10:g.57484421G>A	(Likely) pathogenic	1 lab	7f177dd3d3
19:14040420 CC2D1A G>A	19	14040420	14040420	G	A	CC2D1A	c.2657G>A	NM_017721.5	NP_060191.3:p.(Arg886His)	NC_000019.9:g.14040420G>A	VUS	1 lab	7f1d66a46c
22:51064624 ARSA G>A	22	51064624	51064624	G	A	ARSA	c.937C>T	NM_000487.6	NP_000478.3:p.(Arg313Ter)	NC_000022.10:g.51064624G>A	(Likely) pathogenic	1 lab	7f2457201a
12:49443671 KMT2D C>G	12	49443671	49443671	C	G	KMT2D	c.3700G>C	NM_003482.4	NP_003473.3:p.(Gly1234Arg)	NC_000012.11:g.49443671C>G	(Likely) benign	1 lab	7f2707f0d4
17:56270442 EPX A>G	17	56270442	56270442	A	G	EPX	c.120A>G	NM_000502.6	NP_000493.1:p.(Ile40Met)	NC_000017.10:g.56270442A>G	(Likely) benign	1 lab	7f28271c34
11:32450114 WT1 G>A	11	32450114	32450114	G	A	WT1	c.713C>T	NM_024426.6	NP_077744.4:p.(Ser238Leu)	NC_000011.9:g.32450114G>A	VUS	1 lab	7f2cfa8d13
1:39878474 MACF1 C>T	1	39878474	39878474	C	T	MACF1	c.9631-9572C>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39878474C>T	VUS	1 lab	7f31d1e0fd
7:82584243 PCLO T>C	7	82584243	82584243	T	C	PCLO	c.6026A>G	NM_033026.6	NP_149015.2:p.(Asp2009Gly)	NC_000007.13:g.82584243T>C	VUS	1 lab	7f33bf3b31
8:145003686 PLEC G>A	8	145003686	145003686	G	A	PLEC	c.3058C>T	NM_000445.5	NP_000436.2:p.(Arg1020Trp)	NC_000008.10:g.145003686G>A	VUS	1 lab	7f376fffb6
16:16282693 ABCC6 C>G	16	16282693	16282693	C	G	ABCC6	c.1774G>C	NM_001171.6	NP_001162.5:p.(Val592Leu)	NC_000016.9:g.16282693C>G	VUS	1 lab	7f3eeb2f8c
3:132185195 DNAJC13 A>C	3	132185195	132185195	A	C	DNAJC13	c.2021A>C	NM_015268.4	NP_056083.3:p.(Asp674Ala)	NC_000003.11:g.132185195A>C	VUS	1 lab	7f3f45d67d
5:161300331 GABRA1 T>C	5	161300331	161300331	T	C	GABRA1	c.464T>C	NM_001127644.2	NP_001121116.1:p.(Leu155Pro)	NC_000005.9:g.161300331T>C	VUS	1 lab	7f49c48314
14:23856728 MYH6 C>T	14	23856728	23856728	C	T	MYH6	c.4650+10G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23856728C>T	(Likely) benign	1 lab	7f49cec28e
2:179443884 TTN G>C	2	179443884	179443884	G	C	TTN	c.67873C>G	NM_001267550.2	NP_001254479.2:p.(Leu22625Val)	NC_000002.11:g.179443884G>C	VUS	1 lab	7f4a26d015
X:128630753 SMARCA1 C>T	X	128630753	128630753	C	T	SMARCA1	c.1600G>A	NM_003069.5	NP_003060.2:p.(Gly534Arg)	NC_000023.10:g.128630753C>T	VUS	1 lab	7f509cc15e
19:5110628 KDM4B C>T	19	5110628	5110628	C	T	KDM4B	c.919-5C>T	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5110628C>T	(Likely) benign	1 lab	7f53c10397
2:179554223 TTN T>C	2	179554223	179554223	T	C	TTN	c.31927+19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554223T>C	(Likely) benign	1 lab	7f571bb825
2:179511787 TTN AT>A	2	179511787	179511788	AT	A	TTN	c.40222+3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511788del	(Likely) benign	1 lab	7f57bfa9a5
1:10384956 KIF1B A>G	1	10384956	10384956	A	G	KIF1B	c.2537+3A>G	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10384956A>G	(Likely) benign	1 lab	7f5b474549
9:124062344 GSN T>TA	9	124062344	124062345	T	TA	GSN	c.144+62dup	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124062345dup	(Likely) benign	1 lab	7f5f5c8288
7:19156400 TWIST1 C>T	7	19156400	19156400	C	T	TWIST1	c.545G>A	NM_000474.4	NP_000465.1:p.(Arg182Gln)	NC_000007.13:g.19156400C>T	VUS	1 lab	7f604d3787
11:96075000 MAML2 C>T	11	96075000	96075000	C	T	MAML2	c.60G>A	NM_032427.4	NP_115803.1:p.(Ala20=)	NC_000011.9:g.96075000C>T	(Likely) benign	1 lab	7f61a24a4c
11:118354977 KMT2A C>T	11	118354977	118354977	C	T	KMT2A	c.4166C>T	NM_001197104.2	NP_001184033.1:p.(Ser1389Phe)	NC_000011.9:g.118354977C>T	VUS	1 lab	7f61d643e9
8:144997370 PLEC G>T	8	144997370	144997370	G	T	PLEC	c.6808C>A	NM_000445.5	NP_000436.2:p.(Leu2270Ile)	NC_000008.10:g.144997370G>T	VUS	1 lab	7f638012f4
3:48629339 COL7A1 C>T	3	48629339	48629339	C	T	COL7A1	c.1349G>A	NM_000094.4	NP_000085.1:p.(Arg450His)	NC_000003.11:g.48629339C>T	VUS	1 lab	7f6604e936
2:204735525 CTLA4 G>A	2	204735525	204735525	G	A	CTLA4	c.326G>A	NM_005214.5	NP_005205.2:p.(Gly109Glu)	NC_000002.11:g.204735525G>A	VUS	1 lab	7f6620021a
11:47369184 MYBPC3 G>A	11	47369184	47369184	G	A	MYBPC3	c.851+18C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369184G>A	(Likely) benign	1 lab	7f6f173c34
5:13770853 DNAH5 C>A	5	13770853	13770853	C	A	DNAH5	c.9605+5G>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13770853C>A	(Likely) benign	1 lab	7f77c9fb9a
X:53611199 HUWE1 G>A	X	53611199	53611199	G	A	HUWE1	c.5108C>T	NM_031407.7	NP_113584.3:p.(Thr1703Met)	NC_000023.10:g.53611199G>A	VUS	1 lab	7f7acf3a94
18:28671128 DSC2 G>A	18	28671128	28671128	G	A	DSC2	c.355-18C>T	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28671128G>A	(Likely) benign	1 lab	7f8674df5c
14:50626368 SOS2 G>A	14	50626368	50626368	G	A	SOS2	c.1633C>T	NM_006939.4	NP_008870.2:p.(Arg545Cys)	NC_000014.8:g.50626368G>A	VUS	1 lab	7f8c548d1c
4:186423637 PDLIM3 G>A	4	186423637	186423637	G	A	PDLIM3	c.906C>T	NM_014476.6	NP_055291.2:p.(Val302=)	NC_000004.11:g.186423637G>A	(Likely) benign	1 lab	7f92a5d3b5
12:49436347 KMT2D G>A	12	49436347	49436347	G	A	KMT2D	c.5864C>T	NM_003482.4	NP_003473.3:p.(Ser1955Phe)	NC_000012.11:g.49436347G>A	VUS	1 lab	7f9358904e
9:37015027 PAX5 T>G	9	37015027	37015027	T	G	PAX5	c.377A>C	NM_016734.3	NP_057953.1:p.(Asn126Thr)	NC_000009.11:g.37015027T>G	VUS	1 lab	7f9e6d28da
5:79968669 MSH3 T>C	5	79968669	79968669	T	C	MSH3	c.1019T>C	NM_002439.5	NP_002430.3:p.(Ile340Thr)	NC_000005.9:g.79968669T>C	VUS	1 lab	7f9f6a7d9c
6:110086270 FIG4 C>T	6	110086270	110086270	C	T	FIG4	c.1489C>T	NM_014845.6	NP_055660.1:p.(Gln497Ter)	NC_000006.11:g.110086270C>T	(Likely) pathogenic	1 lab	7fa43314e8
10:75394462 MYOZ1 C>A	10	75394462	75394462	C	A	MYOZ1	c.282G>T	NM_021245.4	NP_067068.1:p.(Val94=)	NC_000010.10:g.75394462C>A	(Likely) benign	1 lab	7fa71c4337
17:74133654 FOXJ1 T>A	17	74133654	74133654	T	A	FOXJ1	c.1046A>T	NM_001454.4	NP_001445.2:p.(His349Leu)	NC_000017.10:g.74133654T>A	(Likely) benign	1 lab	7fae1a04be
3:37070416 MLH1 A>G	3	37070416	37070416	A	G	MLH1	c.1551A>G	NM_000249.4	NP_000240.1:p.(Gly517=)	NC_000003.11:g.37070416A>G	(Likely) benign	1 lab	7fb00285c1
6:52344449 EFHC1 C>T	6	52344449	52344449	C	T	EFHC1	c.1504C>T	NM_018100.4	NP_060570.2:p.(Arg502Trp)	NC_000006.11:g.52344449C>T	VUS	1 lab	7fb59242bd
X:12736012 FRMPD4 T>C	X	12736012	12736012	T	C	FRMPD4	c.3067T>C	NM_014728.3	NP_055543.2:p.(Cys1023Arg)	NC_000023.10:g.12736012T>C	(Likely) benign	1 lab	7fb5bca00f
2:179477082 TTN G>A	2	179477082	179477082	G	A	TTN	c.50170C>T	NM_001267550.2	NP_001254479.2:p.(Arg16724Ter)	NC_000002.11:g.179477082G>A	(Likely) pathogenic	1 lab	7fb925c7f4
17:26864141 FOXN1 T>C	17	26864141	26864141	T	C	FOXN1	c.1634T>C	NM_003593.3	NP_003584.2:p.(Leu545Pro)	NC_000017.10:g.26864141T>C	VUS	1 lab	7fb98a2f65
17:73753042 ITGB4 G>A	17	73753042	73753042	G	A	ITGB4	c.5072G>A	NM_000213.5	NP_000204.3:p.(Arg1691Gln)	NC_000017.10:g.73753042G>A	(Likely) benign	1 lab	7fbe23d98b
9:130438119 STXBP1 A>G	9	130438119	130438119	A	G	STXBP1	c.1147A>G	NM_003165.6	NP_003156.1:p.(Ile383Val)	NC_000009.11:g.130438119A>G	VUS	1 lab	7fbfd4f807
10:71142243 HK1 G>T	10	71142243	71142243	G	T	HK1	c.1266G>T	NM_000188.3	NP_000179.2:p.(Gln422His)	NC_000010.10:g.71142243G>T	VUS	1 lab	7fc3e357de
17:76109657 TMC6 C>T	17	76109657	76109657	C	T	TMC6	c.2326G>A	NM_007267.7	NP_009198.4:p.(Glu776Lys)	NC_000017.10:g.76109657C>T	VUS	1 lab	7fc49a58a1
17:73738463 ITGB4 G>A	17	73738463	73738463	G	A	ITGB4	c.2675G>A	NM_001005731.3	NP_001005731.1:p.(Arg892His)	NC_000017.10:g.73738463G>A	VUS	1 lab	7fc6ff44be
6:112528280 LAMA4 T>C	6	112528280	112528280	T	C	LAMA4	c.364A>G	NM_001105206.3	NP_001098676.2:p.(Ile122Val)	NC_000006.11:g.112528280T>C	VUS	1 lab	7fc9f465d1
2:179472917 TTN G>C	2	179472917	179472917	G	C	TTN	c.52693C>G	NM_001267550.2	NP_001254479.2:p.(His17565Asp)	NC_000002.11:g.179472917G>C	VUS	1 lab	7fcb2cda34
5:127777997 FBN2 G>A	5	127777997	127777997	G	A	FBN2	c.952+4177C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127777997G>A	(Likely) benign	1 lab	7fcba43840
11:2592624 KCNQ1 C>T	11	2592624	2592624	C	T	KCNQ1	c.674C>T	NM_000218.3	NP_000209.2:p.(Ser225Leu)	NC_000011.9:g.2592624C>T	(Likely) pathogenic	1 lab	7fce6a1704
2:210658516 UNC80 C>T	2	210658516	210658516	C	T	UNC80	c.871C>T	NM_032504.2	NP_115893.1:p.(Arg291Ter)	NC_000002.11:g.210658516C>T	(Likely) pathogenic	1 lab	7fcf08a9c8
11:6630566 ILK G>A	11	6630566	6630566	G	A	ILK	c.655G>A	NM_001014795.3	NP_001014795.1:p.(Val219Met)	NC_000011.9:g.6630566G>A	VUS	1 lab	7fd55b47fe
8:105405032 DPYS G>A	8	105405032	105405032	G	A	DPYS	c.1423C>T	NM_001385.3	NP_001376.1:p.(Arg475Ter)	NC_000008.10:g.105405032G>A	(Likely) pathogenic	1 lab	7fd77295c1
16:88729487 MVD A>C	16	88729487	88729487	A	C	MVD	c.2T>G	NM_002461.3	NP_002452.1:p.(Met1?)	NC_000016.9:g.88729487A>C	(Likely) pathogenic	1 lab	7fd8052287
9:32457164 RIGI GA>G	9	32457164	32457167	GA	G	RIGI	c.2733del	NM_014314.4	NP_055129.2:p.(His912IlefsTer26)	NC_000009.11:g.32457167del	VUS	1 lab	7fd9305ec8
6:24289124 DCDC2 A>C	6	24289124	24289124	A	C	DCDC2	c.715T>G	NM_016356.5	NP_057440.2:p.(Ser239Ala)	NC_000006.11:g.24289124A>C	VUS	1 lab	7fdb414344
6:24291203 DCDC2 T>C	6	24291203	24291203	T	C	DCDC2	c.661A>G	NM_016356.5	NP_057440.2:p.(Ser221Gly)	NC_000006.11:g.24291203T>C	(Likely) benign	1 lab	7fdb4d3b2a
7:98609772 TRRAP C>T	7	98609772	98609772	C	T	TRRAP	c.11287C>T	NM_003496.4	NP_003487.1:p.(Pro3763Ser)	NC_000007.13:g.98609772C>T	VUS	1 lab	7fdb70fe25
2:20151169 WDR35 C>A	2	20151169	20151169	C	A	WDR35	c.1503+7G>T	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20151169C>A	(Likely) benign	1 lab	7fde2221a2
9:2058432 SMARCA2 C>T	9	2058432	2058432	C	T	SMARCA2	c.1489C>T	NM_003070.5	NP_003061.3:p.(Arg497Trp)	NC_000009.11:g.2058432C>T	VUS	1 lab	7fe240c0cc
8:41834732 KAT6A C>T	8	41834732	41834732	C	T	KAT6A	c.1157G>A	NM_006766.5	NP_006757.2:p.(Arg386Gln)	NC_000008.10:g.41834732C>T	(Likely) benign	1 lab	7feb26e504
7:73803519 CLIP2 G>T	7	73803519	73803519	G	T	CLIP2	c.2650G>T	NM_003388.5	NP_003379.4:p.(Val884Leu)	NC_000007.13:g.73803519G>T	VUS	1 lab	7feb72f2ed
17:39767694 KRT16 C>T	17	39767694	39767694	C	T	KRT16	c.674G>A	NM_005557.4	NP_005548.2:p.(Arg225Gln)	NC_000017.10:g.39767694C>T	(Likely) benign	1 lab	7feb852521
19:5892930 NDUFA11 A>G	19	5892930	5892930	A	G	NDUFA11	c.685T>C	NM_001193375.3	NP_001180304.1:p.(Ter229ArgextTer21)	NC_000019.9:g.5892930A>G	VUS	1 lab	7febf8e9a8
8:126079939 WASHC5 G>T	8	126079939	126079939	G	T	WASHC5	c.1173C>A	NM_014846.4	NP_055661.3:p.(Arg391=)	NC_000008.10:g.126079939G>T	(Likely) benign	1 lab	7ff0ccbcd1
10:69961760 MYPN G>T	10	69961760	69961760	G	T	MYPN	c.2777+9G>T	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69961760G>T	(Likely) benign	1 lab	7ff420260b
3:150877793 MED12L G>A	3	150877793	150877793	G	A	MED12L	c.1012G>A	NM_053002.6	NP_443728.3:p.(Gly338Ser)	NC_000003.11:g.150877793G>A	VUS	1 lab	7ff4f92856
2:105473268 POU3F3 CAGG>C	2	105473268	105473273	CAGG	C	POU3F3	c.1303_1305del	NM_006236.3	NP_006227.1:p.(Glu435del)	NC_000002.11:g.105473271_105473273del	VUS	1 lab	7ff72fb0fd
3:124951370 ZNF148 G>A	3	124951370	124951370	G	A	ZNF148	c.2200C>T	NM_021964.3	NP_068799.2:p.(Arg734Cys)	NC_000003.11:g.124951370G>A	VUS	1 lab	7ff79be9b6
6:33608314 ITPR3 C>G	6	33608314	33608314	C	G	ITPR3	c.143C>G	NM_002224.4	NP_002215.2:p.(Pro48Arg)	NC_000006.11:g.33608314C>G	VUS	1 lab	7ffaf44c63
X:46502675 SLC9A7 T>C	X	46502675	46502675	T	C	SLC9A7	c.1609A>G	NM_032591.3	NP_115980.1:p.(Ile537Val)	NC_000023.10:g.46502675T>C	VUS	1 lab	7ffd5b732e
X:123195227 STAG2 A>C	X	123195227	123195227	A	C	STAG2	c.1534+36A>C	NM_001042749.2	NP_001036214.1:p.?	NC_000023.10:g.123195227A>C	(Likely) benign	1 lab	7fff1483d0
3:135871415 MSL2 TAGC>T	3	135871415	135871420	TAGC	T	MSL2	c.305_307del	NM_018133.4	NP_060603.2:p.(Cys102del)	NC_000003.11:g.135871418_135871420del	VUS	1 lab	8001fc64e7
13:49050909 RB1 G>T	13	49050909	49050909	G	T	RB1	c.2593G>T	NM_000321.3	NP_000312.2:p.(Gly865Ter)	NC_000013.10:g.49050909G>T	(Likely) pathogenic	1 lab	8005478887
9:35792773 NPR2 G>A	9	35792773	35792773	G	A	NPR2	c.368G>A	NM_003995.4	NP_003986.2:p.(Gly123Asp)	NC_000009.11:g.35792773G>A	(Likely) pathogenic	1 lab	800c10eea8
12:52156281 SCN8A A>G	12	52156281	52156281	A	G	SCN8A	c.2371-6A>G	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52156281A>G	(Likely) benign	1 lab	800cc50afb
X:31496455 DMD C>T	X	31496455	31496455	C	T	DMD	c.8705G>A	NM_004006.3	NP_003997.2:p.(Arg2902Gln)	NC_000023.10:g.31496455C>T	VUS	1 lab	8010ed1275
19:42474557 ATP1A3 C>A	19	42474557	42474557	C	A	ATP1A3	c.2401G>T	NM_152296.5	NP_689509.1:p.(Asp801Tyr)	NC_000019.9:g.42474557C>A	(Likely) pathogenic	1 lab	80166a4202
16:85694903 GSE1 C>T	16	85694903	85694903	C	T	GSE1	c.1480C>T	NM_001134473.3	NP_001127945.1:p.(Arg494Trp)	NC_000016.9:g.85694903C>T	VUS	1 lab	8016f87b76
18:21131671 NPC1 T>A	18	21131671	21131671	T	A	NPC1	c.1574A>T	NM_000271.5	NP_000262.2:p.(Asp525Val)	NC_000018.9:g.21131671T>A	(Likely) pathogenic	1 lab	801c5f905a
3:164772996 SI C>A	3	164772996	164772996	C	A	SI	c.1498G>T	NM_001041.4	NP_001032.2:p.(Asp500Tyr)	NC_000003.11:g.164772996C>A	VUS	1 lab	802682b6fa
15:49034212 CEP152 G>A	15	49034212	49034212	G	A	CEP152	c.3753C>T	NM_014985.4	NP_055800.2:p.(Thr1251=)	NC_000015.9:g.49034212G>A	(Likely) benign	1 lab	802c94521a
2:54885157 SPTBN1 TTC>T	2	54885157	54885162	TTC	T	SPTBN1	c.6221_6222del	NM_003128.3	NP_003119.2:p.(Ser2074CysfsTer61)	NC_000002.11:g.54885161_54885162del	VUS	1 lab	802ce655f9
2:26693553 OTOF C>CCTTCTT	2	26693553	26693573	C	CCTTCTT	OTOF	c.3925_3930dup	NM_194248.3	NP_919224.1:p.(Lys1309_Lys1310dup)	NC_000002.11:g.26693568_26693573dup	VUS	1 lab	802f43c570
20:57466878 GNAS G>A	20	57466878	57466878	G	A	GNAS	c.97G>A	NM_000516.7	NP_000507.1:p.(Asp33Asn)	NC_000020.10:g.57466878G>A	VUS	1 lab	80345ad5b6
18:6985507 LAMA1 G>A	18	6985507	6985507	G	A	LAMA1	c.5496+19C>T	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6985507G>A	(Likely) benign	1 lab	8035aea72d
18:28662921 DSC2 C>A	18	28662921	28662921	C	A	DSC2	c.1048G>T	NM_024422.6	NP_077740.1:p.(Asp350Tyr)	NC_000018.9:g.28662921C>A	VUS	1 lab	80ef8900c1
17:59853907 BRIP1 A>G	17	59853907	59853907	A	G	BRIP1	c.1952T>C	NM_032043.3	NP_114432.2:p.(Ile651Thr)	NC_000017.10:g.59853907A>G	VUS	1 lab	803ebf6a41
19:16940706 SIN3B G>T	19	16940706	16940706	G	T	SIN3B	c.225G>T	NM_015260.4	NP_056075.1:p.(Gln75His)	NC_000019.9:g.16940706G>T	VUS	1 lab	8048f59392
12:52681056 KRT81 C>T	12	52681056	52681056	C	T	KRT81	c.1077G>A	NM_002281.4	NP_002272.2:p.(Ala359=)	NC_000012.11:g.52681056C>T	(Likely) benign	1 lab	804c6f3f56
11:22247552 ANO5 C>A	11	22247552	22247552	C	A	ANO5	c.317C>A	NM_213599.3	NP_998764.1:p.(Thr106Asn)	NC_000011.9:g.22247552C>A	VUS	1 lab	804d95f480
4:1804697 FGFR3 G>A	4	1804697	1804697	G	A	FGFR3	c.987G>A	NM_001163213.2	NP_001156685.1:p.(Ser329=)	NC_000004.11:g.1804697G>A	(Likely) benign	1 lab	80515af635
16:1412274 GNPTG C>T	16	1412274	1412274	C	T	GNPTG	c.479C>T	NM_032520.5	NP_115909.1:p.(Ala160Val)	NC_000016.9:g.1412274C>T	VUS	1 lab	80553dee85
19:4817972 TICAM1 C>T	19	4817972	4817972	C	T	TICAM1	c.418G>A	NM_182919.4	NP_891549.1:p.(Ala140Thr)	NC_000019.9:g.4817972C>T	VUS	1 lab	805a505114
2:179566813 TTN T>TA	2	179566813	179566814	T	TA	TTN	c.30512-21_30512-20insT	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566813_179566814insA	(Likely) benign	1 lab	8067b3f8bd
2:31805880 SRD5A2 A>AG	2	31805880	31805882	A	AG	SRD5A2	c.89_91=	NM_000348.4	NP_000339.2:p.(Pro30_Ser31=)	NC_000002.11:g.31805882dup	(Likely) benign	1 lab	806be4844d
6:32797876 TAP2 A>G	6	32797876	32797876	A	G	TAP2	c.1636-10T>C	NM_001290043.2	NP_001276972.1:p.?	NC_000006.11:g.32797876A>G	(Likely) benign	1 lab	806d8a0bbf
5:36110054 LMBRD2 C>T	5	36110054	36110054	C	T	LMBRD2	c.1784G>A	NM_001007527.2	NP_001007528.1:p.(Arg595Gln)	NC_000005.9:g.36110054C>T	VUS	1 lab	80748d9d43
9:100840540 NANS G>A	9	100840540	100840540	G	A	NANS	c.514G>A	NM_018946.4	NP_061819.2:p.(Val172Met)	NC_000009.11:g.100840540G>A	VUS	1 lab	80827883de
13:32913044 BRCA2 GA>G	13	32913044	32913046	GA	G	BRCA2	c.4554del	NM_000059.4	NP_000050.3:p.(Glu1518AspfsTer25)	NC_000013.10:g.32913046del	(Likely) pathogenic	1 lab	8086c340f1
5:40958141 C7 C>A	5	40958141	40958141	C	A	C7	c.1267C>A	NM_000587.4	NP_000578.2:p.(Pro423Thr)	NC_000005.9:g.40958141C>A	VUS	1 lab	8089f597ff
17:41226510 BRCA1 CTAA>C	17	41226510	41226514	CTAA	C	BRCA1	c.4510_4512del	NM_007294.4	NP_009225.1:p.(Leu1504del)	NC_000017.10:g.41226512_41226514del	VUS	1 lab	808bb9d86e
5:68558048 CDK7 G>A	5	68558048	68558048	G	A	CDK7	c.421G>A	NM_001324069.2	NP_001310998.1:p.(Glu141Lys)	NC_000005.9:g.68558048G>A	VUS	1 lab	808c06c243
1:218607488 TGFB2 CAA>C	1	218607488	218607490	CAA	C	TGFB2	c.576_577del	NM_003238.6	NP_003229.1:p.(Arg193SerfsTer12)	NC_000001.10:g.218607489_218607490del	(Likely) pathogenic	1 lab	808d835e03
11:45971762 PHF21A A>G	11	45971762	45971762	A	G	PHF21A	c.1142T>C	NM_016621.5	NP_057705.3:p.(Leu381Pro)	NC_000011.9:g.45971762A>G	VUS	1 lab	80903c6e8c
7:150671900 KCNH2 A>G	7	150671900	150671900	A	G	KCNH2	c.206T>C	NM_000238.4	NP_000229.1:p.(Leu69Pro)	NC_000007.13:g.150671900A>G	(Likely) pathogenic	1 lab	8091b84bc0
X:48117239 SSX1 C>T	X	48117239	48117239	C	T	SSX1	c.128C>T	NM_005635.4	NP_005626.1:p.(Ser43Leu)	NC_000023.10:g.48117239C>T	(Likely) benign	1 lab	80945af213
7:40039015 CDK13 C>T	7	40039015	40039015	C	T	CDK13	c.2098C>T	NM_003718.5	NP_003709.3:p.(Arg700Cys)	NC_000007.13:g.40039015C>T	VUS	1 lab	809c741aba
12:14781678 GUCY2C G>GA	12	14781678	14781687	G	GA	GUCY2C	c.2158-8dup	NM_004963.4	NP_004954.2:p.?	NC_000012.11:g.14781687dup	(Likely) benign	1 lab	809f5534e3
3:14170988 TMEM43 G>A	3	14170988	14170988	G	A	TMEM43	c.89G>A	NM_024334.3	NP_077310.1:p.(Ser30Asn)	NC_000003.11:g.14170988G>A	(Likely) benign	1 lab	80a53bd76e
3:38519466 ACVR2B G>T	3	38519466	38519466	G	T	ACVR2B	c.370+5G>T	NM_001106.4	NP_001097.2:p.?	NC_000003.11:g.38519466G>T	(Likely) benign	1 lab	80a6bbadc9
2:109370262 RANBP2 A>G	2	109370262	109370262	A	G	RANBP2	c.2056-19A>G	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109370262A>G	(Likely) benign	1 lab	80ae82bcb3
2:113993049 PAX8 A>C	2	113993049	113993049	A	C	PAX8	c.1009T>G	NM_003466.4	NP_003457.1:p.(Ser337Ala)	NC_000002.11:g.113993049A>C	(Likely) benign	1 lab	80ca3dedba
2:179428448 TTN C>T	2	179428448	179428448	C	T	TTN	c.77488G>A	NM_001256850.1	NP_001243779.1:p.(Gly25830Ser)	NC_000002.11:g.179428448C>T	VUS	1 lab	80b1249c95
3:47888055 DHX30 CTG>C	3	47888055	47888059	CTG	C	DHX30	c.1496_1497del	NM_138615.3	NP_619520.1:p.(Val499GlyfsTer25)	NC_000003.11:g.47888058_47888059del	VUS	1 lab	80b7ebcd45
7:138265310 TRIM24 A>G	7	138265310	138265310	A	G	TRIM24	c.2589A>G	NM_015905.3	NP_056989.2:p.(Gly863=)	NC_000007.13:g.138265310A>G	(Likely) benign	1 lab	80bccb4bff
6:32798453 TAP2 A>G	6	32798453	32798453	A	G	TAP2	c.1403T>C	NM_001290043.2	NP_001276972.1:p.(Val468Ala)	NC_000006.11:g.32798453A>G	VUS	1 lab	80bed08f98
14:102894580 TECPR2 TTG>T	14	102894580	102894582	TTG	T	TECPR2	c.952-6_952-5del	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102894581_102894582del	(Likely) benign	1 lab	80c131dddc
15:76578762 ETFA G>A	15	76578762	76578762	G	A	ETFA	c.512C>T	NM_000126.4	NP_000117.1:p.(Thr171Ile)	NC_000015.9:g.76578762G>A	(Likely) benign	1 lab	80c3e81b8b
17:41228525 BRCA1 AT>A	17	41228525	41228530	AT	A	BRCA1	c.4463del	NM_007294.4	NP_009225.1:p.(Asn1488IlefsTer17)	NC_000017.10:g.41228530del	(Likely) pathogenic	1 lab	80c49dea35
17:17700089 RAI1 C>T	17	17700089	17700089	C	T	RAI1	c.3827C>T	NM_030665.4	NP_109590.3:p.(Pro1276Leu)	NC_000017.10:g.17700089C>T	VUS	1 lab	80ce054898
18:42531572 SETBP1 CG>C	18	42531572	42531574	CG	C	SETBP1	c.2269del	NM_015559.3	NP_056374.2:p.(Asp757MetfsTer27)	NC_000018.9:g.42531574del	(Likely) pathogenic	1 lab	80cffd1eff
1:197073790 ASPM G>A	1	197073790	197073790	G	A	ASPM	c.4591C>T	NM_018136.5	NP_060606.3:p.(Arg1531Cys)	NC_000001.10:g.197073790G>A	VUS	1 lab	80d9488a31
11:108186754 ATM C>A	11	108186754	108186754	C	A	ATM	c.6112C>A	NM_000051.4	NP_000042.3:p.(His2038Asn)	NC_000011.9:g.108186754C>A	VUS	1 lab	80e24b7090
12:49433406 KMT2D C>CA	12	49433406	49433414	C	CA	KMT2D	c.8047-7dup	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49433414dup	(Likely) benign	1 lab	80e56951bd
X:129283454 AIFM1 G>A	X	129283454	129283454	G	A	AIFM1	c.339C>T	NM_004208.4	NP_004199.1:p.(Ala113=)	NC_000023.10:g.129283454G>A	(Likely) benign	1 lab	80e9dadac0
2:74275412 TET3 C>G	2	74275412	74275412	C	G	TET3	c.2368C>G	NM_001287491.2	NP_001274420.1:p.(Pro790Ala)	NC_000002.11:g.74275412C>G	VUS	1 lab	80ea86bb69
18:32407638 DTNA G>A	18	32407638	32407638	G	A	DTNA	c.1083G>A	NM_001198939.2	NP_001185868.1:p.(Arg361=)	NC_000018.9:g.32407638G>A	(Likely) benign	1 lab	80ec363a0f
7:114271680 FOXP2 A>G	7	114271680	114271680	A	G	FOXP2	c.695A>G	NM_014491.4	NP_055306.1:p.(His232Arg)	NC_000007.13:g.114271680A>G	VUS	1 lab	80f0c5ae8e
12:89917518 POC1B A>G	12	89917518	89917518	A	G	POC1B	c.100+1379T>C	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89917518A>G	(Likely) benign	1 lab	80f2181488
8:144995598 PLEC G>A	8	144995598	144995598	G	A	PLEC	c.8802C>T	NM_201380.4	NP_958782.1:p.(Ile2934=)	NC_000008.10:g.144995598G>A	(Likely) benign	1 lab	80f45b53aa
14:45618154 FANCM C>G	14	45618154	45618154	C	G	FANCM	c.874C>G	NM_020937.4	NP_065988.1:p.(Pro292Ala)	NC_000014.8:g.45618154C>G	VUS	1 lab	80fc5349ae
5:1278896 TERT C>T	5	1278896	1278896	C	T	TERT	c.2146G>A	NM_198253.3	NP_937983.2:p.(Ala716Thr)	NC_000005.9:g.1278896C>T	(Likely) pathogenic	1 lab	8100aa1e09
8:145638778 SLC39A4 G>T	8	145638778	145638778	G	T	SLC39A4	c.1475-5C>A	NM_130849.4	NP_570901.3:p.?	NC_000008.10:g.145638778G>T	VUS	1 lab	8101436ba8
19:46285518 DMPK G>A	19	46285518	46285518	G	A	DMPK	c.112C>T	NM_001288764.2	NP_001275693.1:p.(Arg38Cys)	NC_000019.9:g.46285518G>A	VUS	1 lab	8104410d10
X:152991469 ABCD1 G>A	X	152991469	152991469	G	A	ABCD1	c.748G>A	NM_000033.4	NP_000024.2:p.(Val250Met)	NC_000023.10:g.152991469G>A	VUS	1 lab	81055a9dc6
2:152511778 NEB A>C	2	152511778	152511778	A	C	NEB	c.6807+6T>G	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152511778A>C	(Likely) benign	1 lab	81093fe29b
13:101759866 NALCN G>A	13	101759866	101759866	G	A	NALCN	c.2551C>T	NM_052867.4	NP_443099.1:p.(Arg851Trp)	NC_000013.10:g.101759866G>A	VUS	1 lab	810f1c03f5
7:151874736 KMT2C C>T	7	151874736	151874736	C	T	KMT2C	c.7802G>A	NM_170606.3	NP_733751.2:p.(Gly2601Asp)	NC_000007.13:g.151874736C>T	VUS	1 lab	810f1f42b7
1:2234809 SKI C>A	1	2234809	2234809	C	A	SKI	c.1181C>A	NM_003036.4	NP_003027.1:p.(Ser394Tyr)	NC_000001.10:g.2234809C>A	VUS	1 lab	8111e881c7
2:179621205 TTN A>C	2	179621205	179621205	A	C	TTN	c.10998T>G	NM_001267550.2	NP_001254479.2:p.(Leu3666=)	NC_000002.11:g.179621205A>C	(Likely) benign	1 lab	811872ff8d
1:155322586 ASH1L G>A	1	155322586	155322586	G	A	ASH1L	c.7277C>T	NM_018489.3	NP_060959.2:p.(Ala2426Val)	NC_000001.10:g.155322586G>A	VUS	1 lab	8119d1db15
4:2829347 SH3BP2 G>A	4	2829347	2829347	G	A	SH3BP2	c.616G>A	NM_001145855.2	NP_001139327.1:p.(Asp206Asn)	NC_000004.11:g.2829347G>A	VUS	1 lab	81213ab4fc
6:87965137 ZNF292 AAG>A	6	87965137	87965144	AAG	A	ZNF292	c.1796_1797del	NM_015021.3	NP_055836.1:p.(Arg599ThrfsTer21)	NC_000006.11:g.87965143_87965144del	(Likely) pathogenic	1 lab	81244fd7a9
1:76349452 MSH4 G>T	1	76349452	76349452	G	T	MSH4	c.2053G>T	NM_002440.4	NP_002431.2:p.(Gly685Ter)	NC_000001.10:g.76349452G>T	(Likely) pathogenic	1 lab	8127d7c1f8
X:43590570 MAOA C>G	X	43590570	43590570	C	G	MAOA	c.728C>G	NM_000240.4	NP_000231.1:p.(Pro243Arg)	NC_000023.10:g.43590570C>G	VUS	1 lab	812a3cc27f
2:179413694 TTN G>A	2	179413694	179413694	G	A	TTN	c.92659C>T	NM_001267550.2	NP_001254479.2:p.(Gln30887Ter)	NC_000002.11:g.179413694G>A	(Likely) pathogenic	1 lab	812f1703fa
X:49054277 SYP C>A	X	49054277	49054277	C	A	SYP	c.124G>T	NM_003179.3	NP_003170.1:p.(Ala42Ser)	NC_000023.10:g.49054277C>A	VUS	1 lab	813232ee1a
1:237802469 RYR2 T>C	1	237802469	237802469	T	C	RYR2	c.7083T>C	NM_001035.3	NP_001026.2:p.(Gly2361=)	NC_000001.10:g.237802469T>C	(Likely) benign	1 lab	813b1ccb42
10:69957221 MYPN C>T	10	69957221	69957221	C	T	MYPN	c.3271C>T	NM_032578.4	NP_115967.2:p.(Arg1091Trp)	NC_000010.10:g.69957221C>T	VUS	1 lab	813ce7849f
1:164529066 PBX1 G>T	1	164529066	164529066	G	T	PBX1	c.7G>T	NM_002585.4	NP_002576.1:p.(Glu3Ter)	NC_000001.10:g.164529066G>T	(Likely) pathogenic	1 lab	81407cab73
17:17698312 RAI1 C>T	17	17698312	17698312	C	T	RAI1	c.2050C>T	NM_030665.4	NP_109590.3:p.(Pro684Ser)	NC_000017.10:g.17698312C>T	VUS	1 lab	81479b2a8a
1:152277245 FLG G>A	1	152277245	152277245	G	A	FLG	c.10117C>T	NM_002016.2	NP_002007.1:p.(Arg3373Cys)	NC_000001.10:g.152277245G>A	VUS	1 lab	8149208920
10:122663585 WDR11 G>A	10	122663585	122663585	G	A	WDR11	c.2958G>A	NM_018117.12	NP_060587.8:p.(Leu986=)	NC_000010.10:g.122663585G>A	(Likely) benign	1 lab	814940984a
1:154842199 KCNN3 GGCTGCTGCTGCTGCTGCTGCT>G	1	154842199	154842242	GGCTGCTGCTGCTGCTGCTGCT	G	KCNN3	c.221_241del	NM_002249.6	NP_002240.3:p.(Gln74_Gln80del)	NC_000001.10:g.154842222_154842242del	VUS	1 lab	814a67986a
2:179453874 TTN T>C	2	179453874	179453874	T	C	TTN	c.62578A>G	NM_001267550.2	NP_001254479.2:p.(Asn20860Asp)	NC_000002.11:g.179453874T>C	VUS	1 lab	814c1568fc
16:30997023 HSD3B7 CAG>C	16	30997023	30997025	CAG	C	HSD3B7	c.45_46del	NM_001142777.2	NP_001136249.1:p.(Gly17LeufsTer26)	NC_000016.9:g.30997024_30997025del	(Likely) pathogenic	1 lab	814f89a5b6
X:69385811 IGBP1 A>G	X	69385811	69385811	A	G	IGBP1	c.1000A>G	NM_001551.3	NP_001542.1:p.(Asn334Asp)	NC_000023.10:g.69385811A>G	VUS	1 lab	8153608e80
20:62612675 PRPF6 G>A	20	62612675	62612675	G	A	PRPF6	c.71+6G>A	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62612675G>A	(Likely) benign	1 lab	815da2e760
22:46327217 WNT7B T>G	22	46327217	46327217	T	G	WNT7B	c.331A>C	NM_058238.3	NP_478679.1:p.(Thr111Pro)	NC_000022.10:g.46327217T>G	(Likely) pathogenic	1 lab	8167029283
2:179477156 TTN T>C	2	179477156	179477156	T	C	TTN	c.50096A>G	NM_001267550.2	NP_001254479.2:p.(Gln16699Arg)	NC_000002.11:g.179477156T>C	VUS	1 lab	8169d5beaa
10:92678634 ANKRD1 A>G	10	92678634	92678634	A	G	ANKRD1	c.441T>C	NM_014391.3	NP_055206.2:p.(Asp147=)	NC_000010.10:g.92678634A>G	(Likely) benign	1 lab	8169f9dda9
X:22239728 PHEX A>T	X	22239728	22239728	A	T	PHEX	c.1769-2A>T	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22239728A>T	(Likely) pathogenic	1 lab	816ec4aa02
14:102391479 PPP2R5C C>G	14	102391479	102391479	C	G	PPP2R5C	c.1610C>G	NM_001352913.2	NP_001339842.1:p.(Ala537Gly)	NC_000014.8:g.102391479C>G	VUS	1 lab	8171732809
16:29809673 KIF22 ATTTC>A	16	29809673	29809687	ATTTC	A	KIF22	c.63-11_63-8del	NM_001256270.1	NP_001243199.1:p.?	NC_000016.9:g.29809684_29809687del	(Likely) benign	1 lab	81722ca09f
9:117166338 WHRN G>C	9	117166338	117166338	G	C	WHRN	c.2256=	NM_015404.4	NP_056219.3:p.(Gln752=)	NC_000009.11:g.117166338G>C	(Likely) benign	1 lab	8173f789e0
19:42777763 CIC C>T	19	42777763	42777763	C	T	CIC	c.1828C>T	NM_001304815.2	NP_001291744.1:p.(Arg610Cys)	NC_000019.9:g.42777763C>T	VUS	1 lab	8174ca2411
2:179396385 TTN C>A	2	179396385	179396385	C	A	TTN	c.104957G>T	NM_001267550.2	NP_001254479.2:p.(Ser34986Ile)	NC_000002.11:g.179396385C>A	VUS	1 lab	81757b60c0
19:49102457 SULT2B1 C>T	19	49102457	49102457	C	T	SULT2B1	c.892C>T	NM_177973.2	NP_814444.1:p.(Arg298Cys)	NC_000019.9:g.49102457C>T	VUS	1 lab	8175f2bdd3
6:87953227 ZNF292 T>C	6	87953227	87953227	T	C	ZNF292	c.776T>C	NM_015021.3	NP_055836.1:p.(Met259Thr)	NC_000006.11:g.87953227T>C	(Likely) benign	1 lab	8178056470
X:135861667 ARHGEF6 A>G	X	135861667	135861667	A	G	ARHGEF6	c.166-11T>C	NM_004840.3	NP_004831.1:p.?	NC_000023.10:g.135861667A>G	(Likely) benign	1 lab	81824c1452
5:132202675 UQCRQ A>T	5	132202675	132202675	A	T	UQCRQ	c.102A>T	NM_014402.5	NP_055217.2:p.(Gly34=)	NC_000005.9:g.132202675A>T	VUS	1 lab	81854cb725
10:102752964 TWNK C>T	10	102752964	102752964	C	T	TWNK	c.1752C>T	NM_021830.5	NP_068602.2:p.(Asp584=)	NC_000010.10:g.102752964C>T	(Likely) benign	1 lab	81854dfa4e
22:19902743 TXNRD2 G>C	22	19902743	19902743	G	C	TXNRD2	c.585C>G	NM_006440.5	NP_006431.2:p.(Pro195=)	NC_000022.10:g.19902743G>C	(Likely) benign	1 lab	818fa14125
X:122528853 GRIA3 A>G	X	122528853	122528853	A	G	GRIA3	c.785A>G	NM_000828.5	NP_000819.4:p.(His262Arg)	NC_000023.10:g.122528853A>G	VUS	1 lab	8191182d9d
2:179611004 TTN C>T	2	179611004	179611004	C	T	TTN	c.16123G>A	NM_133379.5	NP_596870.2:p.(Val5375Ile)	NC_000002.11:g.179611004C>T	VUS	1 lab	819531571d
1:27873916 AHDC1 G>A	1	27873916	27873916	G	A	AHDC1	c.4711C>T	NM_001029882.3	NP_001025053.1:p.(Pro1571Ser)	NC_000001.10:g.27873916G>A	VUS	1 lab	81964d39a4
10:112581090 RBM20 A>G	10	112581090	112581090	A	G	RBM20	c.2713A>G	NM_001134363.3	NP_001127835.2:p.(Met905Val)	NC_000010.10:g.112581090A>G	VUS	1 lab	819ce293d2
16:30198151 CORO1A A>G	16	30198151	30198151	A	G	CORO1A	c.336A>G	NM_001193333.3	NP_001180262.1:p.(Pro112=)	NC_000016.9:g.30198151A>G	(Likely) benign	1 lab	819ea5b225
6:157528352 ARID1B TCACGTTGGC>T	6	157528352	157528363	TCACGTTGGC	T	ARID1B	c.6329_6337del	NM_001371656.1	NP_001358585.1:p.(Thr2110_Ala2112del)	NC_000006.11:g.157528355_157528363del	(Likely) pathogenic	1 lab	819fa6d0a3
16:89341506 ANKRD11 C>T	16	89341506	89341506	C	T	ANKRD11	c.7564G>A	NM_001256182.2	NP_001243111.1:p.(Glu2522Lys)	NC_000016.9:g.89341506C>T	(Likely) pathogenic	1 lab	81a19a4e81
5:38876433 OSMR G>C	5	38876433	38876433	G	C	OSMR	c.204G>C	NM_003999.3	NP_003990.1:p.(Gln68His)	NC_000005.9:g.38876433G>C	VUS	1 lab	81a9822a8d
1:210857218 KCNH1 T>C	1	210857218	210857218	T	C	KCNH1	c.2375A>G	NM_172362.3	NP_758872.1:p.(Glu792Gly)	NC_000001.10:g.210857218T>C	VUS	1 lab	81aa18fcc9
15:67073532 SMAD6 C>T	15	67073532	67073532	C	T	SMAD6	c.1150C>T	NM_005585.5	NP_005576.3:p.(Arg384Cys)	NC_000015.9:g.67073532C>T	VUS	1 lab	81b1c029dc
2:160295594 BAZ2B C>A	2	160295594	160295594	C	A	BAZ2B	c.820G>T	NM_001289975.1	NP_001276904.1:p.(Asp274Tyr)	NC_000002.11:g.160295594C>A	VUS	1 lab	81b6d2d4f9
11:65480290 KAT5 G>A	11	65480290	65480290	G	A	KAT5	c.133G>A	NM_006388.4	NP_006379.2:p.(Val45Ile)	NC_000011.9:g.65480290G>A	VUS	1 lab	81b8c545ea
7:107593989 LAMB1 T>C	7	107593989	107593989	T	C	LAMB1	c.3065A>G	NM_002291.3	NP_002282.2:p.(Gln1022Arg)	NC_000007.13:g.107593989T>C	(Likely) benign	1 lab	81bdaf2357
X:69366568 IGBP1 C>A	X	69366568	69366568	C	A	IGBP1	c.568C>A	NM_001551.3	NP_001542.1:p.(Arg190Ser)	NC_000023.10:g.69366568C>A	VUS	1 lab	81bfb69858
8:77761824 ZFHX4 C>T	8	77761824	77761824	C	T	ZFHX4	c.3722C>T	NM_024721.5	NP_078997.4:p.(Ser1241Leu)	NC_000008.10:g.77761824C>T	(Likely) benign	1 lab	81c2ad29b0
X:53321106 IQSEC2 T>C	X	53321106	53321106	T	C	IQSEC2	c.708A>G	NM_001111125.3	NP_001104595.1:p.(Lys236=)	NC_000023.10:g.53321106T>C	(Likely) benign	1 lab	81c8a3d960
15:43531411 TGM5 G>C	15	43531411	43531411	G	C	TGM5	c.1055C>G	NM_201631.4	NP_963925.2:p.(Ala352Gly)	NC_000015.9:g.43531411G>C	(Likely) benign	1 lab	81cfe42676
19:10259636 DNMT1 G>A	19	10259636	10259636	G	A	DNMT1	c.2644C>T	NM_001130823.3	NP_001124295.1:p.(Gln882Ter)	NC_000019.9:g.10259636G>A	VUS	1 lab	81d7d88daa
16:1816954 MAPK8IP3 A>G	16	1816954	1816954	A	G	MAPK8IP3	c.3070A>G	NM_001318852.2	NP_001305781.1:p.(Ile1024Val)	NC_000016.9:g.1816954A>G	VUS	1 lab	81d959a733
3:133485133 TF A>G	3	133485133	133485133	A	G	TF	c.1342A>G	NM_001063.4	NP_001054.2:p.(Ile448Val)	NC_000003.11:g.133485133A>G	(Likely) benign	1 lab	81ddf80d14
12:6687287 CHD4 C>A	12	6687287	6687287	C	A	CHD4	c.5136G>T	NM_001273.5	NP_001264.2:p.(Trp1712Cys)	NC_000012.11:g.6687287C>A	VUS	1 lab	81de03fe80
2:179435156 TTN T>G	2	179435156	179435156	T	G	TTN	c.75703A>C	NM_001267550.2	NP_001254479.2:p.(Ser25235Arg)	NC_000002.11:g.179435156T>G	VUS	1 lab	81e0240820
4:85642598 WDFY3 AT>A	4	85642598	85642600	AT	A	WDFY3	c.7568del	NM_014991.6	NP_055806.2:p.(Asn2523MetfsTer8)	NC_000004.11:g.85642600del	(Likely) pathogenic	1 lab	81e41b4b21
6:26157220 H1-4 C>T	6	26157220	26157220	C	T	H1-4	c.602C>T	NM_005321.3	NP_005312.1:p.(Pro201Leu)	NC_000006.11:g.26157220C>T	VUS	1 lab	81e8ecaf33
1:152282590 FLG C>T	1	152282590	152282590	C	T	FLG	c.4772G>A	NM_002016.2	NP_002007.1:p.(Gly1591Glu)	NC_000001.10:g.152282590C>T	(Likely) benign	1 lab	81eb755cdb
11:47353710 MYBPC3 G>A	11	47353710	47353710	G	A	MYBPC3	c.3727C>T	NM_000256.3	NP_000247.2:p.(Pro1243Ser)	NC_000011.9:g.47353710G>A	VUS	1 lab	81ece94805
5:112179348 APC T>C	5	112179348	112179348	T	C	APC	c.8057T>C	NM_000038.6	NP_000029.2:p.(Val2686Ala)	NC_000005.9:g.112179348T>C	VUS	1 lab	81f36e4dd4
11:125880271 CDON T>C	11	125880271	125880271	T	C	CDON	c.1517A>G	NM_016952.5	NP_058648.4:p.(His506Arg)	NC_000011.9:g.125880271T>C	(Likely) benign	1 lab	81f6cc4f60
6:146755085 GRM1 T>G	6	146755085	146755085	T	G	GRM1	c.2738T>G	NM_001278064.2	NP_001264993.1:p.(Leu913Arg)	NC_000006.11:g.146755085T>G	VUS	1 lab	81f72838c0
18:3457775 TGIF1 C>T	18	3457775	3457775	C	T	TGIF1	c.656C>T	NM_173208.3	NP_775300.1:p.(Thr219Ile)	NC_000018.9:g.3457775C>T	VUS	1 lab	81fc33cd39
X:24906148 POLA1 C>G	X	24906148	24906148	C	G	POLA1	c.4055C>G	NM_016937.4	NP_058633.2:p.(Thr1352Ser)	NC_000023.10:g.24906148C>G	VUS	1 lab	81fdfd2d12
18:25573588 CDH2 T>C	18	25573588	25573588	T	C	CDH2	c.1034A>G	NM_001792.5	NP_001783.2:p.(Tyr345Cys)	NC_000018.9:g.25573588T>C	VUS	1 lab	8200287eee
1:237905570 RYR2 C>CT	1	237905570	237905585	C	CT	RYR2	c.11092-11dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237905585dup	(Likely) benign	1 lab	8201e224e5
13:41379273 SLC25A15 G>A	13	41379273	41379273	G	A	SLC25A15	c.334G>A	NM_014252.4	NP_055067.1:p.(Ala112Thr)	NC_000013.10:g.41379273G>A	VUS	1 lab	820236672a
12:7343091 PEX5 T>G	12	7343091	7343091	T	G	PEX5	c.118T>G	NM_001131025.2	NP_001124497.1:p.(Trp40Gly)	NC_000012.11:g.7343091T>G	VUS	1 lab	820b4a48b5
6:146625869 GRM1 G>A	6	146625869	146625869	G	A	GRM1	c.1073G>A	NM_001278064.2	NP_001264993.1:p.(Arg358Lys)	NC_000006.11:g.146625869G>A	VUS	1 lab	821064518c
11:75851811 UVRAG T>G	11	75851811	75851811	T	G	UVRAG	c.1454T>G	NM_003369.4	NP_003360.2:p.(Phe485Cys)	NC_000011.9:g.75851811T>G	VUS	1 lab	8212e7bcc8
18:21479401 LAMA3 A>G	18	21479401	21479401	A	G	LAMA3	c.1159A>G	NM_000227.6	NP_000218.3:p.(Lys387Glu)	NC_000018.9:g.21479401A>G	VUS	1 lab	821430b45c
5:147510866 SPINK5 T>C	5	147510866	147510866	T	C	SPINK5	c.3099T>C	NM_001127698.2	NP_001121170.1:p.(Gly1033=)	NC_000005.9:g.147510866T>C	(Likely) benign	1 lab	82147bfc60
7:100417459 EPHB4 C>A	7	100417459	100417459	C	A	EPHB4	c.1017G>T	NM_004444.5	NP_004435.3:p.(Leu339=)	NC_000007.13:g.100417459C>A	(Likely) benign	1 lab	821952ddd5
5:36976256 NIPBL C>G	5	36976256	36976256	C	G	NIPBL	c.1247C>G	NM_133433.4	NP_597677.2:p.(Ala416Gly)	NC_000005.9:g.36976256C>G	VUS	1 lab	821dca5cdd
X:53222385 KDM5C G>A	X	53222385	53222385	G	A	KDM5C	c.4447C>T	NM_004187.5	NP_004178.2:p.(Arg1483Trp)	NC_000023.10:g.53222385G>A	VUS	1 lab	82208a7758
2:121708956 GLI2 G>A	2	121708956	121708956	G	A	GLI2	c.392G>A	NM_005270.5	NP_005261.2:p.(Arg131His)	NC_000002.11:g.121708956G>A	VUS	1 lab	8221123448
2:179587271 TTN G>A	2	179587271	179587271	G	A	TTN	c.21292C>T	NM_001256850.1	NP_001243779.1:p.(Arg7098Cys)	NC_000002.11:g.179587271G>A	VUS	1 lab	82233b2798
8:17827260 PCM1 A>AC	8	17827260	17827261	A	AC	PCM1	c.3584+4dup	NM_006197.4	NP_006188.4:p.?	NC_000008.10:g.17827261dup	(Likely) benign	1 lab	8225b4cc8c
16:30038042 TLCD3B G>A	16	30038042	30038042	G	A	TLCD3B	c.332C>T	NM_031478.6	NP_113666.2:p.(Ala111Val)	NC_000016.9:g.30038042G>A	(Likely) benign	1 lab	822798a536
9:113459655 MUSK C>T	9	113459655	113459655	C	T	MUSK	c.537C>T	NM_005592.4	NP_005583.1:p.(Asn179=)	NC_000009.11:g.113459655C>T	(Likely) benign	1 lab	8228433a1e
X:129267369 AIFM1 T>A	X	129267369	129267369	T	A	AIFM1	c.1367A>T	NM_004208.4	NP_004199.1:p.(Asp456Val)	NC_000023.10:g.129267369T>A	(Likely) pathogenic	1 lab	82297b0c4a
1:226027029 EPHX1 T>C	1	226027029	226027029	T	C	EPHX1	c.704T>C	NM_000120.4	NP_000111.1:p.(Met235Thr)	NC_000001.10:g.226027029T>C	VUS	1 lab	823912e5a9
2:55894247 PNPT1 T>C	2	55894247	55894247	T	C	PNPT1	c.1074-19A>G	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55894247T>C	(Likely) benign	1 lab	823c59e105
6:7581489 DSP T>C	6	7581489	7581489	T	C	DSP	c.5066T>C	NM_004415.4	NP_004406.2:p.(Ile1689Thr)	NC_000006.11:g.7581489T>C	VUS	1 lab	823e5f9e9a
X:32380968 DMD C>A	X	32380968	32380968	C	A	DMD	c.5262G>T	NM_004006.3	NP_003997.2:p.(Glu1754Asp)	NC_000023.10:g.32380968C>A	VUS	1 lab	824856d5eb
1:181479638 CACNA1E A>G	1	181479638	181479638	A	G	CACNA1E	c.292A>G	NM_000721.4	NP_000712.2:p.(Thr98Ala)	NC_000001.10:g.181479638A>G	VUS	1 lab	8249658f8b
19:7267909 INSR T>G	19	7267909	7267909	T	G	INSR	c.101-2A>C	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7267909T>G	(Likely) pathogenic	1 lab	824c61c1b7
3:171330084 PLD1 C>T	3	171330084	171330084	C	T	PLD1	c.2867G>A	NM_002662.5	NP_002653.1:p.(Arg956Gln)	NC_000003.11:g.171330084C>T	VUS	1 lab	8256e23f00
2:179402311 TTN C>G	2	179402311	179402311	C	G	TTN	c.99623G>C	NM_001267550.2	NP_001254479.2:p.(Gly33208Ala)	NC_000002.11:g.179402311C>G	VUS	1 lab	8257cf6ec9
14:94847407 SERPINA1 C>T	14	94847407	94847407	C	T	SERPINA1	c.718G>A	NM_000295.5	NP_000286.3:p.(Val240Met)	NC_000014.8:g.94847407C>T	VUS	1 lab	825a27cf9a
16:89882807 FANCA G>T	16	89882807	89882807	G	T	FANCA	c.79+138C>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89882807G>T	(Likely) benign	1 lab	826203784c
22:31010470 TCN2 C>T	22	31010470	31010470	C	T	TCN2	c.562C>T	NM_000355.4	NP_000346.2:p.(Gln188Ter)	NC_000022.10:g.31010470C>T	(Likely) pathogenic	1 lab	8263a5e516
2:149221476 MBD5 G>A	2	149221476	149221476	G	A	MBD5	c.385G>A	NM_018328.5	NP_060798.2:p.(Gly129Arg)	NC_000002.11:g.149221476G>A	VUS	1 lab	8266cc847c
2:179417301 TTN T>G	2	179417301	179417301	T	G	TTN	c.90326A>C	NM_001267550.2	NP_001254479.2:p.(Lys30109Thr)	NC_000002.11:g.179417301T>G	VUS	1 lab	8267285872
16:58633206 CNOT1 T>G	16	58633206	58633206	T	G	CNOT1	c.36A>C	NM_001265612.2	NP_001252541.1:p.(Gln12His)	NC_000016.9:g.58633206T>G	VUS	1 lab	8270d79af8
21:19670118 TMPRSS15 G>A	21	19670118	19670118	G	A	TMPRSS15	c.2194C>T	NM_002772.3	NP_002763.3:p.(Pro732Ser)	NC_000021.8:g.19670118G>A	(Likely) benign	1 lab	8271537621
5:70932002 MCCC2 G>A	5	70932002	70932002	G	A	MCCC2	c.999+929G>A	NM_022132.5	NP_071415.1:p.?	NC_000005.9:g.70932002G>A	(Likely) benign	1 lab	82720f6770
2:179306388 PRKRA C>A	2	179306388	179306388	C	A	PRKRA	c.525G>T	NM_001139517.1	NP_001132989.1:p.(Glu175Asp)	NC_000002.11:g.179306388C>A	VUS	1 lab	82737e8d9a
2:55870466 PNPT1 G>C	2	55870466	55870466	G	C	PNPT1	c.2001C>G	NM_033109.5	NP_149100.2:p.(Ile667Met)	NC_000002.11:g.55870466G>C	VUS	1 lab	8275e5b13b
1:3310404 PRDM16 G>A	1	3310404	3310404	G	A	PRDM16	c.574-2651G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3310404G>A	(Likely) benign	1 lab	82766d0164
X:13776520 OFD1 C>T	X	13776520	13776520	C	T	OFD1	c.1607C>T	NM_003611.3	NP_003602.1:p.(Thr536Ile)	NC_000023.10:g.13776520C>T	VUS	1 lab	8276d8239f
4:5620230 EVC2 T>A	4	5620230	5620230	T	A	EVC2	c.2441A>T	NM_001166136.2	NP_001159608.1:p.(Gln814Leu)	NC_000004.11:g.5620230T>A	VUS	1 lab	8277d1c249
10:73104056 SLC29A3 A>G	10	73104056	73104056	A	G	SLC29A3	c.383+8A>G	NM_001174098.2	NP_001167569.1:p.?	NC_000010.10:g.73104056A>G	(Likely) benign	1 lab	827a1a8160
14:21897356 CHD8 T>C	14	21897356	21897356	T	C	CHD8	c.982A>G	NM_001170629.2	NP_001164100.1:p.(Lys328Glu)	NC_000014.8:g.21897356T>C	VUS	1 lab	828066be60
1:153789882 GATAD2B G>A	1	153789882	153789882	G	A	GATAD2B	c.866C>T	NM_020699.4	NP_065750.1:p.(Thr289Ile)	NC_000001.10:g.153789882G>A	VUS	1 lab	8285ff4bbb
1:45479306 UROD C>T	1	45479306	45479306	C	T	UROD	c.317C>T	NM_000374.5	NP_000365.3:p.(Pro106Leu)	NC_000001.10:g.45479306C>T	VUS	1 lab	8286b50795
6:161771175 PRKN C>T	6	161771175	161771175	C	T	PRKN	c.1354G>A	NM_004562.3	NP_004553.2:p.(Glu452Lys)	NC_000006.11:g.161771175C>T	VUS	1 lab	828ac45a44
X:153221657 HCFC1 T>C	X	153221657	153221657	T	C	HCFC1	c.2841A>G	NM_005334.3	NP_005325.2:p.(Pro947=)	NC_000023.10:g.153221657T>C	(Likely) benign	1 lab	828b67eaff
1:161326520 SDHC T>A	1	161326520	161326520	T	A	SDHC	c.295T>A	NM_003001.5	NP_002992.1:p.(Tyr99Asn)	NC_000001.10:g.161326520T>A	(Likely) benign	1 lab	828ecd5763
4:39450058 KLB A>T	4	39450058	39450058	A	T	KLB	c.2887A>T	NM_175737.4	NP_783864.1:p.(Ser963Cys)	NC_000004.11:g.39450058A>T	VUS	1 lab	82963c00da
2:55912130 PNPT1 CAGAT>C	2	55912130	55912136	CAGAT	C	PNPT1	c.347_350del	NM_033109.5	NP_149100.2:p.(Tyr116Ter)	NC_000002.11:g.55912133_55912136del	VUS	1 lab	829879bf74
20:62071011 KCNQ2 G>A	20	62071011	62071011	G	A	KCNQ2	c.867C>T	NM_172107.4	NP_742105.1:p.(Asn289=)	NC_000020.10:g.62071011G>A	(Likely) benign	1 lab	8298942486
X:15782794 CA5B G>T	X	15782794	15782794	G	T	CA5B	c.236G>T	NM_007220.4	NP_009151.1:p.(Gly79Val)	NC_000023.10:g.15782794G>T	VUS	1 lab	829b91d39b
X:7066108 STS T>A	X	7066108	7066108	T	A	STS	c.-268T>A	NM_001320751.2	NP_001307680.1:p.?	NC_000023.10:g.7066108T>A	VUS	1 lab	829d6056ef
2:73115620 SPR T>G	2	73115620	73115620	T	G	SPR	c.482T>G	NM_003124.5	NP_003115.1:p.(Leu161Arg)	NC_000002.11:g.73115620T>G	VUS	1 lab	82a007005c
12:49447265 KMT2D G>T	12	49447265	49447265	G	T	KMT2D	c.833C>A	NM_003482.4	NP_003473.3:p.(Ala278Asp)	NC_000012.11:g.49447265G>T	VUS	1 lab	82a33781a5
7:33148906 RP9 G>A	7	33148906	33148906	G	A	RP9	c.79C>T	NM_203288.2	NP_976033.1:p.(Gln27Ter)	NC_000007.13:g.33148906G>A	VUS	1 lab	82a7e573c6
16:30735778 SRCAP C>T	16	30735778	30735778	C	T	SRCAP	c.5033C>T	NM_006662.3	NP_006653.2:p.(Thr1678Met)	NC_000016.9:g.30735778C>T	(Likely) benign	1 lab	82a87eec07
17:39742898 KRT14 G>A	17	39742898	39742898	G	A	KRT14	c.189C>T	NM_000526.5	NP_000517.3:p.(Cys63=)	NC_000017.10:g.39742898G>A	(Likely) benign	1 lab	82aaa5f62c
12:49443916 KMT2D G>A	12	49443916	49443916	G	A	KMT2D	c.3455C>T	NM_003482.4	NP_003473.3:p.(Pro1152Leu)	NC_000012.11:g.49443916G>A	(Likely) benign	1 lab	82aed1bdf0
12:31240862 DDX11 A>T	12	31240862	31240862	A	T	DDX11	c.639-10A>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31240862A>T	(Likely) benign	1 lab	82b08b27d7
19:56175097 U2AF2 C>T	19	56175097	56175097	C	T	U2AF2	c.729C>T	NM_007279.3	NP_009210.1:p.(Ser243=)	NC_000019.9:g.56175097C>T	(Likely) benign	1 lab	82b09136b4
2:179433188 TTN G>T	2	179433188	179433188	G	T	TTN	c.69967C>A	NM_133378.4	NP_596869.4:p.(Pro23323Thr)	NC_000002.11:g.179433188G>T	VUS	1 lab	82b190e444
7:1520023 INTS1 C>A	7	1520023	1520023	C	A	INTS1	c.4004G>T	NM_001080453.3	NP_001073922.2:p.(Gly1335Val)	NC_000007.13:g.1520023C>A	VUS	1 lab	82b36a4e09
5:126161694 LMNB1 C>T	5	126161694	126161694	C	T	LMNB1	c.1506C>T	NM_005573.4	NP_005564.1:p.(Asn502=)	NC_000005.9:g.126161694C>T	(Likely) benign	1 lab	82b5157a6a
10:12162220 DHTKD1 C>T	10	12162220	12162220	C	T	DHTKD1	c.2612C>T	NM_018706.7	NP_061176.4:p.(Pro871Leu)	NC_000010.10:g.12162220C>T	VUS	1 lab	82bf32d815
7:150694018 NOS3 G>A	7	150694018	150694018	G	A	NOS3	c.582+5G>A	NM_000603.5	NP_000594.2:p.?	NC_000007.13:g.150694018G>A	(Likely) benign	1 lab	82bfc6f057
X:24761366 POLA1 T>C	X	24761366	24761366	T	C	POLA1	c.2468T>C	NM_016937.4	NP_058633.2:p.(Ile823Thr)	NC_000023.10:g.24761366T>C	VUS	1 lab	82c255e167
13:49030367 RB1 G>GA	13	49030367	49030373	G	GA	RB1	c.1848dup	NM_000321.3	NP_000312.2:p.(Gly617ArgfsTer36)	NC_000013.10:g.49030373dup	(Likely) pathogenic	1 lab	82c4e1f59d
10:89420789 PAPSS2 A>G	10	89420789	89420789	A	G	PAPSS2	c.27+1024A>G	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89420789A>G	(Likely) benign	1 lab	82c8870184
1:111890375 CIMAP3 G>A	1	111890375	111890375	G	A	CIMAP3	c.239G>A	NM_181643.6	NP_857594.2:p.(Arg80Lys)	NC_000001.10:g.111890375G>A	VUS	1 lab	82cb9fae67
11:6643810 DCHS1 G>A	11	6643810	6643810	G	A	DCHS1	c.9097C>T	NM_003737.4	NP_003728.1:p.(Arg3033Ter)	NC_000011.9:g.6643810G>A	VUS	1 lab	82cbea523d
8:96059283 NDUFAF6 C>T	8	96059283	96059283	C	T	NDUFAF6	c.642C>T	NM_152416.4	NP_689629.2:p.(Val214=)	NC_000008.10:g.96059283C>T	(Likely) benign	1 lab	82ccb7c02e
1:158650396 SPTA1 G>A	1	158650396	158650396	G	A	SPTA1	c.655C>T	NM_003126.4	NP_003117.2:p.(Gln219Ter)	NC_000001.10:g.158650396G>A	(Likely) pathogenic	1 lab	82d5d69b39
13:101167680 PCCA G>A	13	101167680	101167680	G	A	PCCA	c.1900-1G>A	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.101167680G>A	(Likely) pathogenic	1 lab	82d6b996f2
17:39659220 KRT13 C>T	17	39659220	39659220	C	T	KRT13	c.866G>A	NM_002274.4	NP_002265.3:p.(Arg289His)	NC_000017.10:g.39659220C>T	(Likely) benign	1 lab	82d73162a4
1:32741543 LCK C>T	1	32741543	32741543	C	T	LCK	c.510C>T	NM_005356.5	NP_005347.3:p.(Phe170=)	NC_000001.10:g.32741543C>T	(Likely) benign	1 lab	82d89f331a
17:17119708 FLCN TG>T	17	17119708	17119716	TG	T	FLCN	c.1285del	NM_144997.7	NP_659434.2:p.(His429ThrfsTer39)	NC_000017.10:g.17119716del	(Likely) pathogenic	1 lab	82db051c08
19:1391053 NDUFS7 G>A	19	1391053	1391053	G	A	NDUFS7	c.408+4G>A	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1391053G>A	(Likely) benign	1 lab	82df3c5c40
17:73775265 H3-3B C>A	17	73775265	73775265	C	A	H3-3B	c.-10G>T	NM_005324.5	NP_005315.1:p.?	NC_000017.10:g.73775265C>A	VUS	1 lab	82e11ca01c
2:219920363 IHH G>A	2	219920363	219920363	G	A	IHH	c.802C>T	NM_002181.4	NP_002172.2:p.(Arg268Cys)	NC_000002.11:g.219920363G>A	VUS	1 lab	82e437f5e9
14:20916249 OSGEP T>C	14	20916249	20916249	T	C	OSGEP	c.702+16A>G	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20916249T>C	(Likely) benign	1 lab	431584bfa4
18:48577782 SMAD4 G>C	18	48577782	48577782	G	C	SMAD4	c.454+2088G>C	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48577782G>C	(Likely) benign	1 lab	82e6c4c618
2:109382991 RANBP2 A>T	2	109382991	109382991	A	T	RANBP2	c.5996A>T	NM_006267.5	NP_006258.3:p.(Asp1999Val)	NC_000002.11:g.109382991A>T	VUS	1 lab	82e7d0d3ae
21:34924844 SON A>G	21	34924844	34924844	A	G	SON	c.3307A>G	NM_032195.3	NP_115571.3:p.(Met1103Val)	NC_000021.8:g.34924844A>G	(Likely) benign	1 lab	82eb5efb19
X:152991601 ABCD1 G>A	X	152991601	152991601	G	A	ABCD1	c.880G>A	NM_000033.4	NP_000024.2:p.(Ala294Thr)	NC_000023.10:g.152991601G>A	(Likely) pathogenic	1 lab	82edfce510
4:1953897 NSD2 C>T	4	1953897	1953897	C	T	NSD2	c.2076C>T	NM_133330.3	NP_579877.1:p.(Leu692=)	NC_000004.11:g.1953897C>T	(Likely) benign	1 lab	82efa9c47c
X:23411190 PTCHD1 T>A	X	23411190	23411190	T	A	PTCHD1	c.1555T>A	NM_173495.3	NP_775766.2:p.(Tyr519Asn)	NC_000023.10:g.23411190T>A	VUS	1 lab	82f0b6415f
1:197074233 ASPM A>G	1	197074233	197074233	A	G	ASPM	c.4148T>C	NM_018136.5	NP_060606.3:p.(Met1383Thr)	NC_000001.10:g.197074233A>G	VUS	1 lab	82f0b6c124
13:32910950 BRCA2 G>T	13	32910950	32910950	G	T	BRCA2	c.2458G>T	NM_000059.4	NP_000050.3:p.(Asp820Tyr)	NC_000013.10:g.32910950G>T	(Likely) benign	1 lab	82fdd0e471
15:51285670 AP4E1 G>T	15	51285670	51285670	G	T	AP4E1	c.1969G>T	NM_001252127.2	NP_001239056.1:p.(Val657Phe)	NC_000015.9:g.51285670G>T	VUS	1 lab	82fe65aa7a
22:19974583 ARVCF A>G	22	19974583	19974583	A	G	ARVCF	c.210+3525T>C	NM_001670.3	NP_001661.1:p.?	NC_000022.10:g.19974583A>G	(Likely) benign	1 lab	84ef1a10ef
9:130941411 CIZ1 T>C	9	130941411	130941411	T	C	CIZ1	c.1165A>G	NM_001257975.2	NP_001244904.1:p.(Lys389Glu)	NC_000009.11:g.130941411T>C	(Likely) benign	1 lab	82ff7c27f9
16:9862862 GRIN2A A>G	16	9862862	9862862	A	G	GRIN2A	c.2441T>C	NM_000833.5	NP_000824.1:p.(Ile814Thr)	NC_000016.9:g.9862862A>G	(Likely) benign	1 lab	8307ecf115
18:21115469 NPC1 G>A	18	21115469	21115469	G	A	NPC1	c.3441C>T	NM_000271.5	NP_000262.2:p.(Ile1147=)	NC_000018.9:g.21115469G>A	(Likely) benign	1 lab	83087bd4c7
6:21595801 SOX4 G>A	6	21595801	21595801	G	A	SOX4	c.1036G>A	NM_003107.3	NP_003098.1:p.(Ala346Thr)	NC_000006.11:g.21595801G>A	VUS	1 lab	831402a093
11:111965552 SDHD A>T	11	111965552	111965552	A	T	SDHD	c.338A>T	NM_003002.4	NP_002993.1:p.(Asp113Val)	NC_000011.9:g.111965552A>T	VUS	1 lab	8314bf0ffe
13:20797319 GJB6 C>T	13	20797319	20797319	C	T	GJB6	c.301G>A	NM_006783.5	NP_006774.2:p.(Glu101Lys)	NC_000013.10:g.20797319C>T	VUS	1 lab	83186b87a6
7:106924075 COG5 C>T	7	106924075	106924075	C	T	COG5	c.1416G>A	NM_006348.5	NP_006339.4:p.(Pro472=)	NC_000007.13:g.106924075C>T	VUS	1 lab	831e47ac92
3:126736451 PLXNA1 C>T	3	126736451	126736451	C	T	PLXNA1	c.3460C>T	NM_032242.4	NP_115618.3:p.(Pro1154Ser)	NC_000003.11:g.126736451C>T	VUS	1 lab	8322d49fc3
12:121175984 ACADS T>C	12	121175984	121175984	T	C	ACADS	c.625-99T>C	NM_000017.4	NP_000008.1:p.?	NC_000012.11:g.121175984T>C	(Likely) benign	1 lab	832318c469
7:15599872 AGMO T>C	7	15599872	15599872	T	C	AGMO	c.151A>G	NM_001004320.2	NP_001004320.1:p.(Met51Val)	NC_000007.13:g.15599872T>C	VUS	1 lab	832651c0da
17:7752465 KDM6B G>GC	17	7752465	7752471	G	GC	KDM6B	c.2865dup	NM_001080424.2	NP_001073893.1:p.(Ala956ArgfsTer18)	NC_000017.10:g.7752471dup	(Likely) pathogenic	1 lab	832ba3c3b5
18:21124934 NPC1 C>T	18	21124934	21124934	C	T	NPC1	c.1937G>A	NM_000271.5	NP_000262.2:p.(Arg646His)	NC_000018.9:g.21124934C>T	(Likely) benign	1 lab	833a0f35b8
X:71800901 PHKA1 G>A	X	71800901	71800901	G	A	PHKA1	c.3623C>T	NM_002637.4	NP_002628.2:p.(Ala1208Val)	NC_000023.10:g.71800901G>A	VUS	1 lab	833c57b6e4
12:103352171 PAH CGCAGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCAGCA	C	PAH	c.-306_-295del	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352197_103352208del	VUS	1 lab	833e277577
5:71494584 MAP1B C>T	5	71494584	71494584	C	T	MAP1B	c.5402C>T	NM_005909.5	NP_005900.2:p.(Ser1801Leu)	NC_000005.9:g.71494584C>T	VUS	1 lab	833fc03c05
2:179443580 TTN A>T	2	179443580	179443580	A	T	TTN	c.60473T>A	NM_133378.4	NP_596869.4:p.(Val20158Glu)	NC_000002.11:g.179443580A>T	VUS	1 lab	834195c7c8
11:26664723 ANO3 T>C	11	26664723	26664723	T	C	ANO3	c.2276-6T>C	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26664723T>C	(Likely) benign	1 lab	834684c469
2:170038730 LRP2 G>T	2	170038730	170038730	G	T	LRP2	c.9945C>A	NM_004525.3	NP_004516.2:p.(Asn3315Lys)	NC_000002.11:g.170038730G>T	VUS	1 lab	8349915303
2:219920219 IHH G>A	2	219920219	219920219	G	A	IHH	c.946C>T	NM_002181.4	NP_002172.2:p.(Arg316Cys)	NC_000002.11:g.219920219G>A	VUS	1 lab	8349aea8fe
16:1412562 GNPTG G>A	16	1412562	1412562	G	A	GNPTG	c.609+27G>A	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1412562G>A	(Likely) benign	1 lab	834d5712ec
17:48653009 CACNA1G T>C	17	48653009	48653009	T	C	CACNA1G	c.1246T>C	NM_018896.5	NP_061496.2:p.(Phe416Leu)	NC_000017.10:g.48653009T>C	VUS	1 lab	834f809d7d
2:196749391 DNAH7 C>T	2	196749391	196749391	C	T	DNAH7	c.5681G>A	NM_018897.3	NP_061720.2:p.(Gly1894Asp)	NC_000002.11:g.196749391C>T	VUS	1 lab	83500a3631
9:134038397 NUP214 C>T	9	134038397	134038397	C	T	NUP214	c.2560C>T	NM_005085.4	NP_005076.3:p.(Arg854Ter)	NC_000009.11:g.134038397C>T	(Likely) pathogenic	1 lab	83548533c2
14:23237371 OXA1L A>G	14	23237371	23237371	A	G	OXA1L	c.430A>G	NM_005015.5	NP_005006.4:p.(Ile144Val)	NC_000014.8:g.23237371A>G	VUS	1 lab	83570fa08f
15:57925836 MYZAP C>CGATTG	15	57925836	57925841	C	CGATTG	MYZAP	c.831_835dup	NM_001018100.5	NP_001018110.1:p.(Glu279GlyfsTer16)	NC_000015.9:g.57925837_57925841dup	(Likely) pathogenic	1 lab	835884445c
8:61764601 CHD7 G>A	8	61764601	61764601	G	A	CHD7	c.5689G>A	NM_017780.4	NP_060250.2:p.(Glu1897Lys)	NC_000008.10:g.61764601G>A	(Likely) benign	1 lab	835a1408d4
5:80021292 MSH3 G>A	5	80021292	80021292	G	A	MSH3	c.1361G>A	NM_002439.5	NP_002430.3:p.(Arg454Gln)	NC_000005.9:g.80021292G>A	VUS	1 lab	835aca9a45
20:30797944 POFUT1 G>C	20	30797944	30797944	G	C	POFUT1	c.195G>C	NM_015352.2	NP_056167.1:p.(Leu65Phe)	NC_000020.10:g.30797944G>C	VUS	1 lab	835c64bf7c
X:47058976 UBA1 C>T	X	47058976	47058976	C	T	UBA1	c.443C>T	NM_003334.4	NP_003325.2:p.(Thr148Ile)	NC_000023.10:g.47058976C>T	VUS	1 lab	83618a4480
8:41573488 ANK1 G>A	8	41573488	41573488	G	A	ANK1	c.1405-121C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41573488G>A	(Likely) benign	1 lab	4ded021683
11:6631691 ILK A>G	11	6631691	6631691	A	G	ILK	c.1210-2A>G	NM_001014795.3	NP_001014795.1:p.?	NC_000011.9:g.6631691A>G	VUS	1 lab	83629ab6a8
9:108337354 FKTN C>T	9	108337354	108337354	C	T	FKTN	c.41C>T	NM_001351496.2	NP_001338425.1:p.(Thr14Met)	NC_000009.11:g.108337354C>T	VUS	1 lab	8367d21965
2:149226894 MBD5 G>T	2	149226894	149226894	G	T	MBD5	c.1382G>T	NM_018328.5	NP_060798.2:p.(Arg461Leu)	NC_000002.11:g.149226894G>T	VUS	1 lab	836bbe06d5
9:35076764 FANCG C>T	9	35076764	35076764	C	T	FANCG	c.881G>A	NM_004629.2	NP_004620.1:p.(Gly294Glu)	NC_000009.11:g.35076764C>T	VUS	1 lab	836c25b8de
16:1812867 MAPK8IP3 C>T	16	1812867	1812867	C	T	MAPK8IP3	c.1737C>T	NM_001040439.2	NP_001035529.1:p.(Ser579=)	NC_000016.9:g.1812867C>T	(Likely) benign	1 lab	836d2fae0d
X:49107820 FOXP3 C>T	X	49107820	49107820	C	T	FOXP3	c.1271G>A	NM_014009.4	NP_054728.2:p.(Cys424Tyr)	NC_000023.10:g.49107820C>T	(Likely) pathogenic	1 lab	836d3653c6
X:69247726 EDA TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA>T	X	69247726	69247768	TGGACCCAATGGCCCTCCAGGACCCCCAGGACCTCCA	T	EDA	c.553_588del	NM_001399.5	NP_001390.1:p.(Asn185_Pro196del)	NC_000023.10:g.69247733_69247768del	(Likely) pathogenic	1 lab	837536cfe9
15:85400611 ALPK3 C>T	15	85400611	85400611	C	T	ALPK3	c.2642C>T	NM_020778.5	NP_065829.4:p.(Ala881Val)	NC_000015.9:g.85400611C>T	VUS	1 lab	837623693f
17:7127330 DLG4 G>A	17	7127330	7127330	G	A	DLG4				NC_000017.10:g.7127330G>A	(Likely) pathogenic	1 lab	837a5ed484
4:107249368 AIMP1 A>G	4	107249368	107249368	A	G	AIMP1	c.359A>G	NM_004757.4	NP_004748.2:p.(Glu120Gly)	NC_000004.11:g.107249368A>G	(Likely) benign	1 lab	837c628bdf
5:55243420 IL6ST TAAA>T	5	55243420	55243445	TAAA	T	IL6ST	c.1841-6_1841-4del	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243443_55243445del	(Likely) benign	1 lab	837df11571
3:47888096 DHX30 C>T	3	47888096	47888096	C	T	DHX30	c.1534C>T	NM_138615.3	NP_619520.1:p.(Arg512Cys)	NC_000003.11:g.47888096C>T	VUS	1 lab	837ed5cc56
11:108216596 ATM C>T	11	108216596	108216596	C	T	ATM	c.8545C>T	NM_000051.4	NP_000042.3:p.(Arg2849Ter)	NC_000011.9:g.108216596C>T	(Likely) pathogenic	1 lab	8380188fdd
2:179453832 TTN CA>C	2	179453832	179453834	CA	C	TTN	c.62619del	NM_001267550.2	NP_001254479.2:p.(Ile20873MetfsTer29)	NC_000002.11:g.179453834del	(Likely) pathogenic	1 lab	838f2f3524
11:108381314 EXPH5 G>A	11	108381314	108381314	G	A	EXPH5	c.4920C>T	NM_015065.3	NP_055880.2:p.(Asn1640=)	NC_000011.9:g.108381314G>A	(Likely) benign	1 lab	839117bd13
17:62022110 SCN4A T>C	17	62022110	62022110	T	C	SCN4A	c.3835A>G	NM_000334.4	NP_000325.4:p.(Ile1279Val)	NC_000017.10:g.62022110T>C	VUS	1 lab	839132d9f6
1:17316730 ATP13A2 G>A	1	17316730	17316730	G	A	ATP13A2	c.2304C>T	NM_022089.4	NP_071372.1:p.(Ala768=)	NC_000001.10:g.17316730G>A	(Likely) benign	1 lab	8392a8a572
1:1273763 DVL1 G>A	1	1273763	1273763	G	A	DVL1	c.1318C>T	NM_004421.3	NP_004412.2:p.(Arg440Trp)	NC_000001.10:g.1273763G>A	VUS	1 lab	8397f2ab3c
22:50659175 TUBGCP6 T>C	22	50659175	50659175	T	C	TUBGCP6	c.3613A>G	NM_020461.4	NP_065194.3:p.(Met1205Val)	NC_000022.10:g.50659175T>C	VUS	1 lab	839a283de1
2:37334430 EIF2AK2 G>A	2	37334430	37334430	G	A	EIF2AK2	c.1642C>T	NM_001135651.3	NP_001129123.1:p.(Arg548Ter)	NC_000002.11:g.37334430G>A	VUS	1 lab	839e2d8126
19:42728836 ZNF526 T>C	19	42728836	42728836	T	C	ZNF526	c.281T>C	NM_133444.3	NP_597701.1:p.(Val94Ala)	NC_000019.9:g.42728836T>C	(Likely) benign	1 lab	839f9cbf0b
19:59023208 SLC27A5 C>T	19	59023208	59023208	C	T	SLC27A5	c.115G>A	NM_012254.3	NP_036386.1:p.(Asp39Asn)	NC_000019.9:g.59023208C>T	VUS	1 lab	83a3f0419f
3:123471343 MYLK C>T	3	123471343	123471343	C	T	MYLK	c.208G>A	NM_053025.4	NP_444253.3:p.(Gly70Arg)	NC_000003.11:g.123471343C>T	VUS	1 lab	83a6b49c3b
17:7750847 KDM6B T>C	17	7750847	7750847	T	C	KDM6B	c.1258-17T>C	NM_001080424.2	NP_001073893.1:p.?	NC_000017.10:g.7750847T>C	(Likely) benign	1 lab	83aa7c92f0
22:29090061 CHEK2 GTGC>G	22	29090061	29090064	GTGC	G	CHEK2	c.1417_1419del	NM_007194.4	NP_009125.1:p.(Ala473del)	NC_000022.10:g.29090062_29090064del	(Likely) pathogenic	1 lab	83ae7541a6
17:39739805 KRT14 T>C	17	39739805	39739805	T	C	KRT14	c.1051A>G	NM_000526.5	NP_000517.3:p.(Met351Val)	NC_000017.10:g.39739805T>C	VUS	1 lab	83b20f2fd0
20:57466805 GNAS G>C	20	57466805	57466805	G	C	GNAS	c.24G>C	NM_000516.7	NP_000507.1:p.(Lys8Asn)	NC_000020.10:g.57466805G>C	VUS	1 lab	83b33910ac
11:31823225 PAX6 G>A	11	31823225	31823225	G	A	PAX6	c.234A>T	NM_000280.5	NP_000271.1:p.(Val78=)	NC_000011.9:g.31823225G>A	VUS	1 lab	83b761f6e8
7:128494650 FLNC TCA>T	7	128494650	128494653	TCA	T	FLNC	c.6913_6914del	NM_001458.5	NP_001449.3:p.(Thr2305CysfsTer6)	NC_000007.13:g.128494652_128494653del	(Likely) pathogenic	1 lab	83b7b9e3c1
18:19345830 MIB1 C>A	18	19345830	19345830	C	A	MIB1	c.327C>A	NM_020774.4	NP_065825.1:p.(Cys109Ter)	NC_000018.9:g.19345830C>A	(Likely) pathogenic	1 lab	83c070fe74
9:130440725 STXBP1 C>T	9	130440725	130440725	C	T	STXBP1	c.1375C>T	NM_003165.6	NP_003156.1:p.(Arg459Trp)	NC_000009.11:g.130440725C>T	VUS	1 lab	83c135ddd6
1:236645670 EDARADD C>T	1	236645670	236645670	C	T	EDARADD	c.339C>T	NM_080738.4	NP_542776.1:p.(Asp113=)	NC_000001.10:g.236645670C>T	(Likely) benign	1 lab	83c27339b3
8:97157705 GDF6 C>T	8	97157705	97157705	C	T	GDF6	c.454G>A	NM_001001557.4	NP_001001557.1:p.(Val152Met)	NC_000008.10:g.97157705C>T	VUS	1 lab	83c64893b1
20:35579979 SAMHD1 G>C	20	35579979	35579979	G	C	SAMHD1	c.68C>G	NM_015474.4	NP_056289.2:p.(Ser23Ter)	NC_000020.10:g.35579979G>C	(Likely) pathogenic	1 lab	83c6e372a6
X:12736045 FRMPD4 G>A	X	12736045	12736045	G	A	FRMPD4	c.3100G>A	NM_014728.3	NP_055543.2:p.(Gly1034Ser)	NC_000023.10:g.12736045G>A	VUS	1 lab	83c6fa0d75
2:179440468 TTN C>A	2	179440468	179440468	C	A	TTN	c.70391G>T	NM_001267550.2	NP_001254479.2:p.(Gly23464Val)	NC_000002.11:g.179440468C>A	VUS	1 lab	83c8f6a83d
17:48649313 CACNA1G G>A	17	48649313	48649313	G	A	CACNA1G	c.661G>A	NM_018896.5	NP_061496.2:p.(Val221Ile)	NC_000017.10:g.48649313G>A	VUS	1 lab	83cb83b1fe
3:135980794 PCCB A>G	3	135980794	135980794	A	G	PCCB	c.490A>G	NM_001178014.2	NP_001171485.1:p.(Ile164Val)	NC_000003.11:g.135980794A>G	VUS	1 lab	83cd633eb0
13:32900718 BRCA2 C>CAGCTA	13	32900718	32900720	C	CAGCTA	BRCA2	c.600_601insGCTAA	NM_000059.4	NP_000050.3:p.(Pro201AlafsTer12)	NC_000013.10:g.32900719_32900720insGCTAA	(Likely) pathogenic	1 lab	83ce242d97
15:43531397 TGM5 G>A	15	43531397	43531397	G	A	TGM5	c.1069C>T	NM_201631.4	NP_963925.2:p.(Gln357Ter)	NC_000015.9:g.43531397G>A	(Likely) pathogenic	1 lab	83d170ae66
X:70586321 TAF1 G>C	X	70586321	70586321	G	C	TAF1	c.97G>C	NM_001286074.2	NP_001273003.2:p.(Glu33Gln)	NC_000023.10:g.70586321G>C	VUS	1 lab	83d22d237b
2:169850249 ABCB11 A>G	2	169850249	169850249	A	G	ABCB11	c.755T>C	NM_003742.4	NP_003733.2:p.(Ile252Thr)	NC_000002.11:g.169850249A>G	VUS	1 lab	83d3d53de3
13:23913938 SACS C>A	13	23913938	23913938	C	A	SACS	c.4077G>T	NM_014363.6	NP_055178.3:p.(Met1359Ile)	NC_000013.10:g.23913938C>A	VUS	1 lab	83d6cc1079
12:21713402 GYS2 T>C	12	21713402	21713402	T	C	GYS2	c.1087A>G	NM_021957.4	NP_068776.2:p.(Met363Val)	NC_000012.11:g.21713402T>C	(Likely) benign	1 lab	83d7a53b43
17:78327358 RNF213 G>A	17	78327358	78327358	G	A	RNF213	c.10470G>A	NM_001256071.3	NP_001243000.2:p.(Glu3490=)	NC_000017.10:g.78327358G>A	(Likely) benign	1 lab	83e3e01eb6
10:112544081 RBM20 C>T	10	112544081	112544081	C	T	RBM20	c.1338-18C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544081C>T	(Likely) benign	1 lab	83e5f78048
17:76129514 TMC8 G>A	17	76129514	76129514	G	A	TMC8	c.559G>A	NM_152468.5	NP_689681.2:p.(Gly187Ser)	NC_000017.10:g.76129514G>A	VUS	1 lab	83e6f752c7
8:145010011 PLEC T>C	8	145010011	145010011	T	C	PLEC	c.683+5A>G	NM_000445.5	NP_000436.2:p.?	NC_000008.10:g.145010011T>C	(Likely) benign	1 lab	83e7013b5a
X:18598089 CDKL5 G>T	X	18598089	18598089	G	T	CDKL5	c.403+1G>T	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18598089G>T	(Likely) pathogenic	1 lab	83ef29d6fa
11:62285066 AHNAK A>C	11	62285066	62285066	A	C	AHNAK	c.16823T>G	NM_001620.3	NP_001611.1:p.(Leu5608Trp)	NC_000011.9:g.62285066A>C	VUS	1 lab	83f26f62df
X:122387304 GRIA3 A>G	X	122387304	122387304	A	G	GRIA3	c.419A>G	NM_000828.5	NP_000819.4:p.(Gln140Arg)	NC_000023.10:g.122387304A>G	VUS	1 lab	83f4f3e543
2:38298203 CYP1B1 C>G	2	38298203	38298203	C	G	CYP1B1	c.1294=	NM_000104.4	NP_000095.2:p.(Leu432=)	NC_000002.11:g.38298203C>G	(Likely) benign	1 lab	83f532a52d
2:160289777 BAZ2B G>C	2	160289777	160289777	G	C	BAZ2B	c.1385C>G	NM_001289975.1	NP_001276904.1:p.(Thr462Ser)	NC_000002.11:g.160289777G>C	VUS	1 lab	83f605a8b6
10:75607766 CAMK2G T>C	10	75607766	75607766	T	C	CAMK2G	c.676A>G	NM_172171.3	NP_751911.1:p.(Ile226Val)	NC_000010.10:g.75607766T>C	VUS	1 lab	84014004b7
1:46726978 RAD54L T>C	1	46726978	46726978	T	C	RAD54L	c.812T>C	NM_003579.4	NP_003570.2:p.(Leu271Pro)	NC_000001.10:g.46726978T>C	VUS	1 lab	84027caf25
6:31977230 TNXA C>T	6	31977230	31977230	C	T	TNXA	n.2162-15G>A	NR_001284.2		NC_000006.11:g.31977230C>T	(Likely) benign	1 lab	840392efde
10:14976374 DCLRE1C C>T	10	14976374	14976374	C	T	DCLRE1C	c.678+5G>A	NM_001033855.3	NP_001029027.1:p.?	NC_000010.10:g.14976374C>T	(Likely) benign	1 lab	840494f017
2:113404974 SLC20A1 A>C	2	113404974	113404974	A	C	SLC20A1	c.408A>C	NM_005415.5	NP_005406.3:p.(Ala136=)	NC_000002.11:g.113404974A>C	(Likely) benign	1 lab	8404ae2d07
17:73750859 ITGB4 C>G	17	73750859	73750859	C	G	ITGB4	c.4521C>G	NM_000213.5	NP_000204.3:p.(Pro1507=)	NC_000017.10:g.73750859C>G	(Likely) benign	1 lab	841226adc4
10:104594640 CYP17A1 T>G	10	104594640	104594640	T	G	CYP17A1	c.568A>C	NM_000102.4	NP_000093.1:p.(Asn190His)	NC_000010.10:g.104594640T>G	VUS	1 lab	84132dd34a
6:21595777 SOX4 A>G	6	21595777	21595777	A	G	SOX4	c.1012A>G	NM_003107.3	NP_003098.1:p.(Ser338Gly)	NC_000006.11:g.21595777A>G	(Likely) benign	1 lab	84176235fe
6:107955612 SOBP A>C	6	107955612	107955612	A	C	SOBP	c.1564A>C	NM_018013.4	NP_060483.3:p.(Thr522Pro)	NC_000006.11:g.107955612A>C	VUS	1 lab	8417e4ce17
X:70352617 MED12 CCTCTTCTCTTCTCTT>C	X	70352617	70352679	CCTCTTCTCTTCTCTT	C	MED12	c.4416-30_4416-16del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352665_70352679del	(Likely) benign	1 lab	8418407066
12:7053337 C12orf57 G>A	12	7053337	7053337	G	A	C12orf57	c.52+1G>A	NM_138425.4	NP_612434.1:p.?	NC_000012.11:g.7053337G>A	(Likely) pathogenic	1 lab	841aad811a
16:65016003 CDH11 C>T	16	65016003	65016003	C	T	CDH11	c.1201G>A	NM_001797.4	NP_001788.2:p.(Val401Met)	NC_000016.9:g.65016003C>T	VUS	1 lab	841b52d448
22:18571008 PEX26 G>A	22	18571008	18571008	G	A	PEX26	c.*167G>A	NM_001127649.3	NP_001121121.1:p.?	NC_000022.10:g.18571008G>A	(Likely) benign	1 lab	8422212f3f
16:3706702 DNASE1 C>T	16	3706702	3706702	C	T	DNASE1	c.384C>T	NM_005223.4	NP_005214.2:p.(Asn128=)	NC_000016.9:g.3706702C>T	(Likely) benign	1 lab	842631692d
20:32031399 SNTA1 T>G	20	32031399	32031399	T	G	SNTA1	c.28A>C	NM_003098.3	NP_003089.1:p.(Thr10Pro)	NC_000020.10:g.32031399T>G	VUS	1 lab	8429adb48a
14:58915081 KIAA0586 C>T	14	58915081	58915081	C	T	KIAA0586	c.990C>T	NM_001244189.2	NP_001231118.1:p.(Leu330=)	NC_000014.8:g.58915081C>T	(Likely) pathogenic	1 lab	842edd6dc5
6:70989703 COL9A1 A>G	6	70989703	70989703	A	G	COL9A1	c.975+812T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70989703A>G	(Likely) benign	1 lab	842f011392
20:49509327 ADNP G>A	20	49509327	49509327	G	A	ADNP	c.1924C>T	NM_015339.5	NP_056154.1:p.(His642Tyr)	NC_000020.10:g.49509327G>A	VUS	1 lab	843567cf89
17:39742714 KRT14 G>A	17	39742714	39742714	G	A	KRT14	c.373C>T	NM_000526.5	NP_000517.3:p.(Arg125Cys)	NC_000017.10:g.39742714G>A	(Likely) pathogenic	1 lab	8436240eba
12:99640054 ANKS1B T>C	12	99640054	99640054	T	C	ANKS1B	c.2345A>G	NM_152788.4	NP_690001.3:p.(Glu782Gly)	NC_000012.11:g.99640054T>C	VUS	1 lab	84375b0bc8
X:53246306 KDM5C G>A	X	53246306	53246306	G	A	KDM5C				NC_000023.10:g.53246306G>A	(Likely) benign	1 lab	41f0356b1d
2:39213177 SOS1 G>T	2	39213177	39213177	G	T	SOS1	c.3790C>A	NM_005633.4	NP_005624.2:p.(Pro1264Thr)	NC_000002.11:g.39213177G>T	VUS	1 lab	843d83a73c
5:1201882 SLC6A19 GCA>G	5	1201882	1201884	GCA	G	SLC6A19	c.118_119del	NM_001003841.3	NP_001003841.1:p.(Gln40ValfsTer312)	NC_000005.9:g.1201883_1201884del	(Likely) pathogenic	1 lab	843f2b2935
18:21531634 LAMA3 C>T	18	21531634	21531634	C	T	LAMA3	c.9643-14C>T	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21531634C>T	(Likely) benign	1 lab	8441e45b4b
18:3100201 MYOM1 T>C	18	3100201	3100201	T	C	MYOM1	c.3683A>G	NM_003803.4	NP_003794.3:p.(Glu1228Gly)	NC_000018.9:g.3100201T>C	VUS	1 lab	8447737037
1:160098485 ATP1A2 G>T	1	160098485	160098485	G	T	ATP1A2	c.1061G>T	NM_000702.4	NP_000693.1:p.(Cys354Phe)	NC_000001.10:g.160098485G>T	VUS	1 lab	84477dbc5a
16:9934670 GRIN2A C>CAA	16	9934670	9934690	C	CAA	GRIN2A	c.1498-15_1498-14dup	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9934689_9934690dup	(Likely) benign	1 lab	845a67ee95
6:29913078 HLA-A A>G	6	29913078	29913078	A	G	HLA-A	c.1093+20A>G	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29913078A>G	(Likely) benign	1 lab	845abc6d17
17:17699917 RAI1 C>T	17	17699917	17699917	C	T	RAI1	c.3655C>T	NM_030665.4	NP_109590.3:p.(Leu1219Phe)	NC_000017.10:g.17699917C>T	(Likely) benign	1 lab	8460e8e4e2
4:1808895 FGFR3 A>G	4	1808895	1808895	A	G	FGFR3	c.2327A>G	NM_000142.5	NP_000133.1:p.(Asp776Gly)	NC_000004.11:g.1808895A>G	VUS	1 lab	8460ea4b1b
13:32913603 BRCA2 GAATA>G	13	32913603	32913611	GAATA	G	BRCA2	c.5116_5119del	NM_000059.4	NP_000050.3:p.(Asn1706LeufsTer5)	NC_000013.10:g.32913608_32913611del	(Likely) pathogenic	1 lab	8461dadd7b
8:30969263 WRN C>T	8	30969263	30969263	C	T	WRN	c.2221C>T	NM_000553.6	NP_000544.2:p.(Arg741Ter)	NC_000008.10:g.30969263C>T	(Likely) pathogenic	1 lab	846fbd5849
20:2375944 TGM6 A>C	20	2375944	2375944	A	C	TGM6	c.286A>C	NM_198994.3	NP_945345.2:p.(Thr96Pro)	NC_000020.10:g.2375944A>C	VUS	1 lab	847a672da0
16:28944700 CD19 G>T	16	28944700	28944700	G	T	CD19	c.705G>T	NM_001178098.2	NP_001171569.1:p.(Pro235=)	NC_000016.9:g.28944700G>T	(Likely) benign	1 lab	847ab3ebb8
15:44964585 PATL2 C>G	15	44964585	44964585	C	G	PATL2	c.515+1G>C	NM_001145112.2	NP_001138584.1:p.?	NC_000015.9:g.44964585C>G	VUS	1 lab	847fa8e293
8:8750252 MFHAS1 A>C	8	8750252	8750252	A	C	MFHAS1	c.317T>G	NM_004225.3	NP_004216.2:p.(Val106Gly)	NC_000008.10:g.8750252A>C	VUS	1 lab	847fb4b264
2:215845354 ABCA12 A>C	2	215845354	215845354	A	C	ABCA12	c.4593T>G	NM_173076.3	NP_775099.2:p.(Ile1531Met)	NC_000002.11:g.215845354A>C	VUS	1 lab	8488269189
1:151400887 POGZ G>T	1	151400887	151400887	G	T	POGZ	c.571C>A	NM_015100.4	NP_055915.2:p.(Pro191Thr)	NC_000001.10:g.151400887G>T	VUS	1 lab	848e3b570a
2:9683369 ADAM17 G>A	2	9683369	9683369	G	A	ADAM17	c.143C>T	NM_003183.6	NP_003174.3:p.(Ser48Phe)	NC_000002.11:g.9683369G>A	VUS	1 lab	848f56f512
15:44891002 SPG11 A>G	15	44891002	44891002	A	G	SPG11	c.3719T>C	NM_025137.4	NP_079413.3:p.(Ile1240Thr)	NC_000015.9:g.44891002A>G	(Likely) benign	1 lab	848ff417ac
17:57761049 CLTC T>G	17	57761049	57761049	T	G	CLTC	c.4267T>G	NM_001288653.2	NP_001275582.1:p.(Leu1423Val)	NC_000017.10:g.57761049T>G	VUS	1 lab	849238a161
15:55759223 DNAAF4 A>C	15	55759223	55759223	A	C	DNAAF4	c.542T>G	NM_130810.4	NP_570722.2:p.(Leu181Ter)	NC_000015.9:g.55759223A>C	(Likely) pathogenic	1 lab	8492a0a6d5
7:92126067 PEX1 T>A	7	92126067	92126067	T	A	PEX1	c.2119A>T	NM_001282678.2	NP_001269607.1:p.(Ile707Phe)	NC_000007.13:g.92126067T>A	VUS	1 lab	84939f9a06
7:103251196 RELN G>C	7	103251196	103251196	G	C	RELN	c.2954C>G	NM_005045.4	NP_005036.2:p.(Ala985Gly)	NC_000007.13:g.103251196G>C	VUS	1 lab	849623fd7d
3:142215862 ATR T>C	3	142215862	142215862	T	C	ATR	c.5731A>G	NM_001184.4	NP_001175.2:p.(Asn1911Asp)	NC_000003.11:g.142215862T>C	VUS	1 lab	849e684b23
10:50946113 OGDHL GAA>G	10	50946113	50946115	GAA	G	OGDHL	c.2395_2396del	NM_018245.3	NP_060715.2:p.(Phe799HisfsTer11)	NC_000010.10:g.50946114_50946115del	VUS	1 lab	84a6c92780
11:6644425 DCHS1 G>A	11	6644425	6644425	G	A	DCHS1	c.8482C>T	NM_003737.4	NP_003728.1:p.(Arg2828Cys)	NC_000011.9:g.6644425G>A	VUS	1 lab	84a701710f
15:55520813 RAB27A A>G	15	55520813	55520813	A	G	RAB27A	c.337T>C	NM_004580.5	NP_004571.2:p.(Trp113Arg)	NC_000015.9:g.55520813A>G	VUS	1 lab	84a8cf7a20
4:190884225 FRG1 T>TTTC	4	190884225	190884228	T	TTTC	FRG1	c.741-21_741-20insCTT	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190884227_190884228insCTT	(Likely) benign	1 lab	84a8efe703
16:2158429 PKD1 C>T	16	2158429	2158429	C	T	PKD1	c.6739G>A	NM_001009944.3	NP_001009944.3:p.(Ala2247Thr)	NC_000016.9:g.2158429C>T	VUS	1 lab	84acb55b7c
X:24839596 POLA1 C>G	X	24839596	24839596	C	G	POLA1	c.3439C>G	NM_016937.4	NP_058633.2:p.(Pro1147Ala)	NC_000023.10:g.24839596C>G	VUS	1 lab	84ad5bdb3c
19:50831541 KCNC3 T>TGCCGCCCGC	19	50831541	50831562	T	TGCCGCCCGC	KCNC3	c.790_798dup	NM_004977.3	NP_004968.2:p.(Ala264_Gly266dup)	NC_000019.9:g.50831554_50831562dup	(Likely) benign	1 lab	84adfe9664
3:119132818 ARHGAP31 C>G	3	119132818	119132818	C	G	ARHGAP31	c.2042C>G	NM_020754.4	NP_065805.2:p.(Pro681Arg)	NC_000003.11:g.119132818C>G	VUS	1 lab	84ae8ae05d
6:75847239 COL12A1 T>C	6	75847239	75847239	T	C	COL12A1	c.5308A>G	NM_004370.6	NP_004361.3:p.(Thr1770Ala)	NC_000006.11:g.75847239T>C	VUS	1 lab	84af6206c6
2:240944702 NDUFA10 T>C	2	240944702	240944702	T	C	NDUFA10	c.815A>G	NM_004544.4	NP_004535.1:p.(Asp272Gly)	NC_000002.11:g.240944702T>C	VUS	1 lab	84b0a15982
16:347930 AXIN1 C>T	16	347930	347930	C	T	AXIN1	c.1576G>A	NM_003502.4	NP_003493.1:p.(Ala526Thr)	NC_000016.9:g.347930C>T	(Likely) benign	1 lab	84b13f9713
3:12977333 IQSEC1 G>A	3	12977333	12977333	G	A	IQSEC1	c.1225C>T	NM_014869.8	NP_055684.3:p.(Arg409Cys)	NC_000003.11:g.12977333G>A	VUS	1 lab	84b258bca6
17:41219633 BRCA1 A>T	17	41219633	41219633	A	T	BRCA1	c.5066T>A	NM_007294.4	NP_009225.1:p.(Met1689Lys)	NC_000017.10:g.41219633A>T	(Likely) pathogenic	1 lab	84b2734c34
18:10672743 PIEZO2 C>T	18	10672743	10672743	C	T	PIEZO2	c.7950G>A	NM_022068.4	NP_071351.2:p.(Leu2650=)	NC_000018.9:g.10672743C>T	(Likely) benign	1 lab	84bb0bcef7
17:41228509 BRCA1 C>A	17	41228509	41228509	C	A	BRCA1	c.4480G>T	NM_007294.4	NP_009225.1:p.(Glu1494Ter)	NC_000017.10:g.41228509C>A	(Likely) pathogenic	1 lab	84c57f9651
7:98567763 TRRAP C>T	7	98567763	98567763	C	T	TRRAP	c.7466C>T	NM_003496.4	NP_003487.1:p.(Thr2489Ile)	NC_000007.13:g.98567763C>T	VUS	1 lab	84cb9f6bb6
1:223284111 TLR5 C>T	1	223284111	223284111	C	T	TLR5	c.2263G>A	NM_003268.6	NP_003259.2:p.(Val755Ile)	NC_000001.10:g.223284111C>T	(Likely) benign	1 lab	84cdc5b227
3:4853133 ITPR1 C>T	3	4853133	4853133	C	T	ITPR1	c.7268C>T	NM_002222.7	NP_002213.5:p.(Thr2423Ile)	NC_000003.11:g.4853133C>T	VUS	1 lab	84cdc98de0
21:45948383 TSPEAR T>C	21	45948383	45948383	T	C	TSPEAR	c.874A>G	NM_144991.3	NP_659428.2:p.(Lys292Glu)	NC_000021.8:g.45948383T>C	VUS	1 lab	84cfaa9652
6:90660780 BACH2 T>C	6	90660780	90660780	T	C	BACH2	c.1045A>G	NM_021813.4	NP_068585.1:p.(Lys349Glu)	NC_000006.11:g.90660780T>C	VUS	1 lab	84d272d622
17:39923635 JUP C>T	17	39923635	39923635	C	T	JUP	c.905G>A	NM_002230.4	NP_002221.1:p.(Ser302Asn)	NC_000017.10:g.39923635C>T	VUS	1 lab	84d367ee19
19:11356501 DOCK6 C>T	19	11356501	11356501	C	T	DOCK6	c.860G>A	NM_020812.4	NP_065863.2:p.(Arg287Gln)	NC_000019.9:g.11356501C>T	VUS	1 lab	84d8d6a8e4
22:24837301 ADORA2A T>C	22	24837301	24837301	T	C	ADORA2A	c.1083T>C	NM_001278497.2	NP_001265426.1:p.(Tyr361=)	NC_000022.10:g.24837301T>C	(Likely) benign	1 lab	84da32a522
4:73941988 ANKRD17 G>C	4	73941988	73941988	G	C	ANKRD17	c.7433C>G	NM_001286771.3	NP_001273700.1:p.(Ala2478Gly)	NC_000004.11:g.73941988G>C	VUS	1 lab	84e0496c84
7:94257615 SGCE G>A	7	94257615	94257615	G	A	SGCE	c.202C>T	NM_001346719.2	NP_001333648.1:p.(Arg68Ter)	NC_000007.13:g.94257615G>A	(Likely) pathogenic	1 lab	84e2c293c2
X:64138956 ZC4H2 G>A	X	64138956	64138956	G	A	ZC4H2	c.527C>T	NM_018684.4	NP_061154.1:p.(Thr176Met)	NC_000023.10:g.64138956G>A	VUS	1 lab	84e67a1ec9
10:112572217 RBM20 C>T	10	112572217	112572217	C	T	RBM20	c.2062C>T	NM_001134363.3	NP_001127835.2:p.(Arg688Ter)	NC_000010.10:g.112572217C>T	(Likely) pathogenic	1 lab	84ea6b633b
3:123003524 ADCY5 G>A	3	123003524	123003524	G	A	ADCY5	c.3717C>T	NM_183357.3	NP_899200.1:p.(Gly1239=)	NC_000003.11:g.123003524G>A	(Likely) benign	1 lab	84efa7a34d
X:70510562 NONO G>GCAGCAGCACCAC	X	70510562	70510582	G	GCAGCAGCACCAC	NONO	c.84_95dup	NM_001145408.2	NP_001138880.1:p.(His28_Gln31dup)	NC_000023.10:g.70510571_70510582dup	VUS	1 lab	84f26b32df
2:240923147 NDUFA10 C>T	2	240923147	240923147	C	T	NDUFA10	c.999+6344G>A	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240923147C>T	(Likely) benign	1 lab	84f4cdf53b
13:107145742 EFNB2 C>T	13	107145742	107145742	C	T	EFNB2	c.648G>A	NM_004093.4	NP_004084.1:p.(Ser216=)	NC_000013.10:g.107145742C>T	(Likely) benign	1 lab	84f6da084c
8:72267106 EYA1 C>T	8	72267106	72267106	C	T	EYA1	c.35G>A	NM_000503.6	NP_000494.2:p.(Arg12His)	NC_000008.10:g.72267106C>T	VUS	1 lab	84f9a2ace2
4:71471905 AMBN G>A	4	71471905	71471905	G	A	AMBN	c.802G>A	NM_016519.6	NP_057603.1:p.(Gly268Arg)	NC_000004.11:g.71471905G>A	VUS	1 lab	84fe0b4e80
17:41245263 BRCA1 CT>C	17	41245263	41245266	CT	C	BRCA1	c.2284del	NM_007294.4	NP_009225.1:p.(Arg762AspfsTer3)	NC_000017.10:g.41245266del	(Likely) pathogenic	1 lab	84ffb3a479
17:37821732 TCAP G>C	17	37821732	37821732	G	C	TCAP	c.110+10G>C	NM_003673.4	NP_003664.1:p.?	NC_000017.10:g.37821732G>C	(Likely) benign	1 lab	850cd87173
22:32161000 DEPDC5 G>C	22	32161000	32161000	G	C	DEPDC5	c.233G>C	NM_001242896.3	NP_001229825.1:p.(Arg78Pro)	NC_000022.10:g.32161000G>C	VUS	1 lab	85110c85f6
21:38850563 DYRK1A TTC>T	21	38850563	38850566	TTC	T	DYRK1A	c.290_291del	NM_001396.5	NP_001387.2:p.(Ser97CysfsTer2)	NC_000021.8:g.38850565_38850566del	(Likely) pathogenic	1 lab	85115483ce
17:48267291 COL1A1 G>C	17	48267291	48267291	G	C	COL1A1	c.2560-18C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267291G>C	(Likely) benign	1 lab	8517a907a1
17:41256974 BRCA1 C>T	17	41256974	41256974	C	T	BRCA1	c.213-1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256974C>T	(Likely) pathogenic	1 lab	851ab0e645
5:65334255 ERBIN C>A	5	65334255	65334255	C	A	ERBIN	c.1251C>A	NM_001253697.2	NP_001240626.1:p.(Thr417=)	NC_000005.9:g.65334255C>A	(Likely) benign	1 lab	851dffb132
X:70464310 ZMYM3 C>T	X	70464310	70464310	C	T	ZMYM3	c.3122G>A	NM_201599.3	NP_963893.1:p.(Arg1041Gln)	NC_000023.10:g.70464310C>T	VUS	1 lab	8520484588
5:13891219 DNAH5 A>T	5	13891219	13891219	A	T	DNAH5	c.2443T>A	NM_001369.3	NP_001360.1:p.(Leu815Met)	NC_000005.9:g.13891219A>T	VUS	1 lab	85211ed36f
12:58159841 CYP27B1 G>A	12	58159841	58159841	G	A	CYP27B1	c.335C>T	NM_000785.4	NP_000776.1:p.(Pro112Leu)	NC_000012.11:g.58159841G>A	(Likely) pathogenic	1 lab	8523bd4d14
16:4747047 ANKS3 C>CTTCCCGTTCAA	16	4747047	4747058	C	CTTCCCGTTCAA	ANKS3	c.1952_1953insTTGAACGGGAA	NM_133450.4	NP_597707.1:p.(Lys651AsnfsTer2)	NC_000016.9:g.4747057_4747058insATTCCCGTTCA	VUS	1 lab	8523cb3a1b
21:47552344 COL6A2 G>A	21	47552344	47552344	G	A	COL6A2	c.2938G>A	NM_001849.4	NP_001840.3:p.(Val980Met)	NC_000021.8:g.47552344G>A	VUS	1 lab	8526ab7f72
6:7566646 DSP C>T	6	7566646	7566646	C	T	DSP	c.976C>T	NM_004415.4	NP_004406.2:p.(Leu326Phe)	NC_000006.11:g.7566646C>T	VUS	1 lab	852eb5020d
19:45992758 RTN2 C>T	19	45992758	45992758	C	T	RTN2	c.1087G>A	NM_005619.5	NP_005610.1:p.(Gly363Ser)	NC_000019.9:g.45992758C>T	VUS	1 lab	87a978e144
2:86491094 REEP1 AG>A	2	86491094	86491096	AG	A	REEP1	c.175del	NM_022912.3	NP_075063.1:p.(Leu59PhefsTer10)	NC_000002.11:g.86491096del	(Likely) pathogenic	1 lab	8532f37f60
6:143091389 HIVEP2 A>T	6	143091389	143091389	A	T	HIVEP2	c.4487T>A	NM_006734.4	NP_006725.3:p.(Val1496Asp)	NC_000006.11:g.143091389A>T	VUS	1 lab	8534b78a2c
1:209823368 LAMB3 G>A	1	209823368	209823368	G	A	LAMB3	c.124C>T	NM_000228.3	NP_000219.2:p.(Arg42Ter)	NC_000001.10:g.209823368G>A	(Likely) pathogenic	1 lab	853dd9fa10
16:88503554 ZNF469 C>A	16	88503554	88503554	C	A	ZNF469				NC_000016.9:g.88503554C>A	(Likely) benign	1 lab	079ffb41dc
15:89873489 POLGARF C>G	15	89873489	89873489	C	G	POLGARF	c.733G>C	NM_001430120.1	NP_001417049.1:p.(Ala245Pro)	NC_000015.9:g.89873489C>G	VUS	1 lab	9a5f06ee94
16:30734431 SRCAP C>T	16	30734431	30734431	C	T	SRCAP	c.4040C>T	NM_006662.3	NP_006653.2:p.(Thr1347Met)	NC_000016.9:g.30734431C>T	(Likely) benign	1 lab	8541ee53d5
2:48059784 FBXO11 G>A	2	48059784	48059784	G	A	FBXO11	c.1187C>T	NM_001190274.2	NP_001177203.1:p.(Ala396Val)	NC_000002.11:g.48059784G>A	VUS	1 lab	85473e679d
5:180058748 FLT4 G>A	5	180058748	180058748	G	A	FLT4	c.89C>T	NM_182925.5	NP_891555.2:p.(Pro30Leu)	NC_000005.9:g.180058748G>A	(Likely) pathogenic	1 lab	85491b461e
15:28235773 OCA2 C>T	15	28235773	28235773	C	T	OCA2	c.1065G>A	NM_000275.3	NP_000266.2:p.(Ala355=)	NC_000015.9:g.28235773C>T	(Likely) benign	1 lab	854a428514
15:40462285 BUB1B T>G	15	40462285	40462285	T	G	BUB1B	c.202T>G	NM_001211.6	NP_001202.5:p.(Phe68Val)	NC_000015.9:g.40462285T>G	VUS	1 lab	854d5f9e99
X:38226640 OTC G>A	X	38226640	38226640	G	A	OTC	c.174G>A	NM_000531.6	NP_000522.3:p.(Trp58Ter)	NC_000023.10:g.38226640G>A	(Likely) pathogenic	1 lab	855995caa3
12:80899901 PTPRQ C>A	12	80899901	80899901	C	A	PTPRQ	c.2371C>A	NM_001145026.2	NP_001138498.1:p.(Gln791Lys)	NC_000012.11:g.80899901C>A	(Likely) benign	1 lab	855b3028d2
18:43502403 EPG5 G>A	18	43502403	43502403	G	A	EPG5	c.3002C>T	NM_020964.3	NP_066015.2:p.(Thr1001Ile)	NC_000018.9:g.43502403G>A	VUS	1 lab	855c8726ce
11:118184569 CD3E G>T	11	118184569	118184569	G	T	CD3E	c.500G>T	NM_000733.4	NP_000724.1:p.(Gly167Val)	NC_000011.9:g.118184569G>T	VUS	1 lab	855fbe9c20
6:31930495 SKIC2 A>G	6	31930495	31930495	A	G	SKIC2	c.1216A>G	NM_006929.5	NP_008860.4:p.(Met406Val)	NC_000006.11:g.31930495A>G	VUS	1 lab	85655f847f
12:89993087 ATP2B1 G>A	12	89993087	89993087	G	A	ATP2B1	c.3169-11C>T	NM_001682.3	NP_001673.2:p.?	NC_000012.11:g.89993087G>A	(Likely) benign	1 lab	856960dfb5
X:153135330 L1CAM G>A	X	153135330	153135330	G	A	L1CAM	c.1051C>T	NM_001278116.2	NP_001265045.1:p.(Arg351Cys)	NC_000023.10:g.153135330G>A	VUS	1 lab	856ad2a066
22:19865708 TXNRD2 C>A	22	19865708	19865708	C	A	TXNRD2	c.1350G>T	NM_006440.5	NP_006431.2:p.(Met450Ile)	NC_000022.10:g.19865708C>A	(Likely) benign	1 lab	856c33052a
2:179639843 TTN A>G	2	179639843	179639843	A	G	TTN	c.6595T>C	NM_001256850.1	NP_001243779.1:p.(Ser2199Pro)	NC_000002.11:g.179639843A>G	VUS	1 lab	857339b4e3
6:116441229 COL10A1 T>TGGG	6	116441229	116441231	T	TGGG	COL10A1	c.*6_*7insCCC	NM_000493.4	NP_000484.2:p.?	NC_000006.11:g.116441230_116441231insGGG	(Likely) benign	1 lab	85774c85e0
7:150706272 NOS3 C>T	7	150706272	150706272	C	T	NOS3	c.2246-5C>T	NM_000603.5	NP_000594.2:p.?	NC_000007.13:g.150706272C>T	(Likely) benign	1 lab	857b19183c
13:101728268 NALCN C>T	13	101728268	101728268	C	T	NALCN	c.3910G>A	NM_052867.4	NP_443099.1:p.(Ala1304Thr)	NC_000013.10:g.101728268C>T	VUS	1 lab	857e4dae7e
3:48614339 COL7A1 TCTC>T	3	48614339	48614344	TCTC	T	COL7A1	c.5579_5581del	NM_000094.4	NP_000085.1:p.(Gly1860del)	NC_000003.11:g.48614342_48614344del	VUS	1 lab	8581220054
20:42271176 IFT52 C>A	20	42271176	42271176	C	A	IFT52	c.1178C>A	NM_001303458.3	NP_001290387.1:p.(Thr393Asn)	NC_000020.10:g.42271176C>A	VUS	1 lab	85822813ab
10:89692818 PTEN T>A	10	89692818	89692818	T	A	PTEN	c.302T>A	NM_000314.8	NP_000305.3:p.(Ile101Asn)	NC_000010.10:g.89692818T>A	(Likely) pathogenic	1 lab	8583370371
13:108862079 LIG4 T>C	13	108862079	108862079	T	C	LIG4	c.1538A>G	NM_002312.3	NP_002303.2:p.(Lys513Arg)	NC_000013.10:g.108862079T>C	VUS	1 lab	85866baf0f
1:154569476 ADAR A>G	1	154569476	154569476	A	G	ADAR	c.1195-5T>C	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154569476A>G	(Likely) benign	1 lab	858a730aa9
2:219146737 PNKD G>A	2	219146737	219146737	G	A	PNKD	c.236+10465G>A	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219146737G>A	(Likely) benign	1 lab	858f0ab209
6:56368799 DST A>G	6	56368799	56368799	A	G	DST	c.13205T>C	NM_001144769.5	NP_001138241.1:p.(Leu4402Pro)	NC_000006.11:g.56368799A>G	VUS	1 lab	8594d72db8
X:99657661 PCDH19 C>T	X	99657661	99657661	C	T	PCDH19	c.2477G>A	NM_001184880.2	NP_001171809.1:p.(Arg826His)	NC_000023.10:g.99657661C>T	VUS	1 lab	8597f02456
2:179634376 TTN GTA>G	2	179634376	179634393	GTA	G	TTN	c.8902+28_8902+29del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634392_179634393del	(Likely) benign	1 lab	859d87a7eb
7:150693603 NOS3 C>T	7	150693603	150693603	C	T	NOS3	c.382C>T	NM_000603.5	NP_000594.2:p.(Arg128Trp)	NC_000007.13:g.150693603C>T	(Likely) benign	1 lab	85aaa697cb
12:33049446 PKP2 T>C	12	33049446	33049446	T	C	PKP2	c.220A>G	NM_004572.4	NP_004563.2:p.(Asn74Asp)	NC_000012.11:g.33049446T>C	VUS	1 lab	85acf9e4d1
2:149247340 MBD5 G>A	2	149247340	149247340	G	A	MBD5	c.3440G>A	NM_018328.5	NP_060798.2:p.(Arg1147Gln)	NC_000002.11:g.149247340G>A	(Likely) benign	1 lab	85adb3e50a
2:179583716 TTN C>T	2	179583716	179583716	C	T	TTN	c.24227-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179583716C>T	(Likely) benign	1 lab	85b0295174
18:10789178 PIEZO2 C>T	18	10789178	10789178	C	T	PIEZO2	c.2068G>A	NM_022068.4	NP_071351.2:p.(Val690Ile)	NC_000018.9:g.10789178C>T	VUS	1 lab	85b2f17400
19:41056158 SPTBN4 G>T	19	41056158	41056158	G	T	SPTBN4	c.4599G>T	NM_020971.3	NP_066022.2:p.(Glu1533Asp)	NC_000019.9:g.41056158G>T	VUS	1 lab	85b492d08c
15:52641006 MYO5A T>A	15	52641006	52641006	T	A	MYO5A	c.3858+9A>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52641006T>A	(Likely) benign	1 lab	85b4e30e4d
18:52946804 TCF4 G>C	18	52946804	52946804	G	C	TCF4	c.633C>G	NM_001083962.2	NP_001077431.1:p.(Phe211Leu)	NC_000018.9:g.52946804G>C	VUS	1 lab	85b662e708
6:32552067 HLA-DRB1 C>T	6	32552067	32552067	C	T	HLA-DRB1	c.189G>A	NM_002124.4	NP_002115.2:p.(Gln63=)	NC_000006.11:g.32552067C>T	(Likely) benign	1 lab	85c69a8b95
3:119087245 ARHGAP31 C>T	3	119087245	119087245	C	T	ARHGAP31	c.230C>T	NM_020754.4	NP_065805.2:p.(Pro77Leu)	NC_000003.11:g.119087245C>T	VUS	1 lab	85d189cdbe
2:166152446 SCN2A A>C	2	166152446	166152446	A	C	SCN2A	c.113A>C	NM_021007.3	NP_066287.2:p.(Lys38Thr)	NC_000002.11:g.166152446A>C	VUS	1 lab	85d49c94e0
7:142457375 PRSS1 C>G	7	142457375	142457375	C	G	PRSS1	c.40C>G	NM_002769.5	NP_002760.1:p.(Leu14Val)	NC_000007.13:g.142457375C>G	(Likely) benign	1 lab	85dc7fa56e
14:103470294 CDC42BPB G>A	14	103470294	103470294	G	A	CDC42BPB	c.418C>T	NM_006035.4	NP_006026.3:p.(His140Tyr)	NC_000014.8:g.103470294G>A	VUS	1 lab	85df4d4a6b
2:163163283 IFIH1 CTTCTCCAGATT>C	2	163163283	163163295	CTTCTCCAGATT	C	IFIH1	c.694_704del	NM_022168.4	NP_071451.2:p.(Asn232GlyfsTer8)	NC_000002.11:g.163163285_163163295del	VUS	1 lab	85e0203ae7
19:17731539 UNC13A G>A	19	17731539	17731539	G	A	UNC13A	c.4243-8C>T	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17731539G>A	VUS	1 lab	85e436945d
14:23872645 MYH6 C>T	14	23872645	23872645	C	T	MYH6	c.810G>A	NM_002471.4	NP_002462.2:p.(Glu270=)	NC_000014.8:g.23872645C>T	(Likely) benign	1 lab	85e480d8c8
1:214819353 CENPF G>A	1	214819353	214819353	G	A	CENPF	c.6440G>A	NM_016343.4	NP_057427.3:p.(Arg2147Gln)	NC_000001.10:g.214819353G>A	VUS	1 lab	85ec729a34
X:64743498 LAS1L G>A	X	64743498	64743498	G	A	LAS1L	c.1390C>T	NM_031206.7	NP_112483.1:p.(Arg464Trp)	NC_000023.10:g.64743498G>A	VUS	1 lab	85ee14c690
1:982941 AGRN T>C	1	982941	982941	T	C	AGRN	c.3517-12T>C	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.982941T>C	(Likely) benign	1 lab	85efa0226d
18:33721376 ELP2 G>C	18	33721376	33721376	G	C	ELP2	c.783+212G>C	NM_001242875.3	NP_001229804.1:p.?	NC_000018.9:g.33721376G>C	(Likely) benign	1 lab	85f137903b
10:27301863 ANKRD26 GA>G	10	27301863	27301864	GA	G	ANKRD26	c.4900del	NM_014915.3	NP_055730.2:p.(Ser1634LeufsTer16)	NC_000010.10:g.27301864del	VUS	1 lab	85f49aea90
12:111779832 CUX2 G>A	12	111779832	111779832	G	A	CUX2	c.3634G>A	NM_015267.4	NP_056082.2:p.(Val1212Ile)	NC_000012.11:g.111779832G>A	(Likely) benign	1 lab	85fa775d39
5:1212475 SLC6A19 C>T	5	1212475	1212475	C	T	SLC6A19	c.539C>T	NM_001003841.3	NP_001003841.1:p.(Thr180Met)	NC_000005.9:g.1212475C>T	VUS	1 lab	86068bf6c8
1:19215952 ALDH4A1 G>A	1	19215952	19215952	G	A	ALDH4A1	c.157-4C>T	NM_003748.4	NP_003739.2:p.?	NC_000001.10:g.19215952G>A	(Likely) benign	1 lab	86079a0a15
10:64973348 JMJD1C T>C	10	64973348	64973348	T	C	JMJD1C	c.2579A>G	NM_032776.3	NP_116165.1:p.(Tyr860Cys)	NC_000010.10:g.64973348T>C	VUS	1 lab	8611f69c46
2:152470847 NEB G>T	2	152470847	152470847	G	T	NEB	c.11544C>A	NM_001271208.2	NP_001258137.2:p.(Cys3848Ter)	NC_000002.11:g.152470847G>T	(Likely) pathogenic	1 lab	8613057004
12:90028639 ATP2B1 C>A	12	90028639	90028639	C	A	ATP2B1	c.703G>T	NM_001682.3	NP_001673.2:p.(Asp235Tyr)	NC_000012.11:g.90028639C>A	VUS	1 lab	8614bf097d
11:64065713 KCNK4 C>G	11	64065713	64065713	C	G	KCNK4	c.793C>G	NM_033310.3	NP_201567.1:p.(Arg265Gly)	NC_000011.9:g.64065713C>G	VUS	1 lab	86153cbe0b
4:4864404 MSX1 CT>C	4	4864404	4864413	CT	C	MSX1	c.470-15del	NM_002448.3	NP_002439.2:p.?	NC_000004.11:g.4864413del	(Likely) benign	1 lab	8615b323ce
7:117171011 CFTR C>T	7	117171011	117171011	C	T	CFTR	c.332C>T	NM_000492.4	NP_000483.3:p.(Pro111Leu)	NC_000007.13:g.117171011C>T	(Likely) pathogenic	1 lab	861ccfc6f8
16:67679177 CARMIL2 T>G	16	67679177	67679177	T	G	CARMIL2	c.28T>G	NM_001013838.3	NP_001013860.1:p.(Cys10Gly)	NC_000016.9:g.67679177T>G	VUS	1 lab	861f72a50b
7:107555951 DLD G>T	7	107555951	107555951	G	T	DLD	c.685G>T	NM_000108.5	NP_000099.2:p.(Gly229Cys)	NC_000007.13:g.107555951G>T	(Likely) pathogenic	1 lab	86209175d0
16:8868776 ABAT C>A	16	8868776	8868776	C	A	ABAT	c.984C>A	NM_000663.5	NP_000654.2:p.(Val328=)	NC_000016.9:g.8868776C>A	(Likely) benign	1 lab	8623c34ecb
20:44519643 CTSA G>A	20	44519643	44519643	G	A	CTSA	c.-422G>A	NM_001127695.2	NP_001121167.1:p.?	NC_000020.10:g.44519643G>A	(Likely) benign	1 lab	862b2a15fa
2:164468029 FIGN C>G	2	164468029	164468029	C	G	FIGN	c.313G>C	NM_018086.4	NP_060556.2:p.(Glu105Gln)	NC_000002.11:g.164468029C>G	VUS	1 lab	862d24754c
1:91809014 HFM1 C>T	1	91809014	91809014	C	T	HFM1	c.2308G>A	NM_001017975.6	NP_001017975.5:p.(Asp770Asn)	NC_000001.10:g.91809014C>T	VUS	1 lab	862e052282
1:173800692 DARS2 T>C	1	173800692	173800692	T	C	DARS2	c.416T>C	NM_018122.5	NP_060592.2:p.(Ile139Thr)	NC_000001.10:g.173800692T>C	(Likely) pathogenic	1 lab	862fef8c3c
17:5461980 NLRP1 C>T	17	5461980	5461980	C	T	NLRP1	c.2036G>A	NM_033004.4	NP_127497.1:p.(Ser679Asn)	NC_000017.10:g.5461980C>T	VUS	1 lab	863231324b
5:137728913 KDM3B G>T	5	137728913	137728913	G	T	KDM3B	c.2683G>T	NM_016604.4	NP_057688.3:p.(Gly895Ter)	NC_000005.9:g.137728913G>T	(Likely) pathogenic	1 lab	8636fa93e4
13:103705044 SLC10A2 A>C	13	103705044	103705044	A	C	SLC10A2	c.511T>G	NM_000452.3	NP_000443.2:p.(Ser171Ala)	NC_000013.10:g.103705044A>C	(Likely) benign	1 lab	863b475f75
3:52441316 BAP1 G>A	3	52441316	52441316	G	A	BAP1	c.454C>T	NM_004656.4	NP_004647.1:p.(Leu152Phe)	NC_000003.11:g.52441316G>A	VUS	1 lab	863bd18283
18:29055705 DSG3 G>A	18	29055705	29055705	G	A	DSG3	c.2482G>A	NM_001944.3	NP_001935.2:p.(Val828Met)	NC_000018.9:g.29055705G>A	VUS	1 lab	863d96cba0
18:29126096 DSG2 A>G	18	29126096	29126096	A	G	DSG2	c.2747A>G	NM_001943.5	NP_001934.2:p.(Gln916Arg)	NC_000018.9:g.29126096A>G	VUS	1 lab	864f867bde
8:21984882 HR G>A	8	21984882	21984882	G	A	HR	c.1073C>T	NM_005144.5	NP_005135.2:p.(Pro358Leu)	NC_000008.10:g.21984882G>A	VUS	1 lab	8656d002ee
17:61995782 GH1 A>G	17	61995782	61995782	A	G	GH1	c.95T>C	NM_000515.5	NP_000506.2:p.(Leu32Ser)	NC_000017.10:g.61995782A>G	VUS	1 lab	865a94a8e7
1:151372610 PSMB4 C>T	1	151372610	151372610	C	T	PSMB4	c.294C>T	NM_002796.3	NP_002787.2:p.(Ala98=)	NC_000001.10:g.151372610C>T	(Likely) benign	1 lab	865bdfb9ff
2:179478977 TTN T>TC	2	179478977	179478978	T	TC	TTN	c.49146dup	NM_001267550.2	NP_001254479.2:p.(Ile16383AspfsTer12)	NC_000002.11:g.179478978dup	(Likely) pathogenic	1 lab	865dcd9eaf
17:36099434 HNF1B G>A	17	36099434	36099434	G	A	HNF1B	c.541C>T	NM_000458.4	NP_000449.1:p.(Arg181Ter)	NC_000017.10:g.36099434G>A	(Likely) pathogenic	1 lab	8663e6f0d5
6:7584586 DSP G>T	6	7584586	7584586	G	T	DSP	c.7091G>T	NM_004415.4	NP_004406.2:p.(Gly2364Val)	NC_000006.11:g.7584586G>T	VUS	1 lab	86643243f4
16:65025800 CDH11 C>A	16	65025800	65025800	C	A	CDH11	c.682G>T	NM_001797.4	NP_001788.2:p.(Ala228Ser)	NC_000016.9:g.65025800C>A	VUS	1 lab	89619e9736
17:38787843 SMARCE1 C>A	17	38787843	38787843	C	A	SMARCE1	c.816+1G>T	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38787843C>A	(Likely) pathogenic	1 lab	866929ef0f
X:70464160 ZMYM3 C>T	X	70464160	70464160	C	T	ZMYM3	c.3272G>A	NM_201599.3	NP_963893.1:p.(Arg1091His)	NC_000023.10:g.70464160C>T	VUS	1 lab	86692b2bf7
1:209796480 LAMB3 G>A	1	209796480	209796480	G	A	LAMB3	c.2403C>T	NM_001017402.2	NP_001017402.1:p.(Cys801=)	NC_000001.10:g.209796480G>A	(Likely) benign	1 lab	866e35a317
20:2083543 STK35 C>G	20	2083543	2083543	C	G	STK35	c.424C>G	NM_080836.4	NP_543026.2:p.(Arg142Gly)	NC_000020.10:g.2083543C>G	VUS	1 lab	866f8ddea4
12:52845801 KRT6B T>C	12	52845801	52845801	T	C	KRT6B	c.62A>G	NM_005555.4	NP_005546.2:p.(Asn21Ser)	NC_000012.11:g.52845801T>C	(Likely) benign	1 lab	86700b653a
5:141335159 PCDH12 C>T	5	141335159	141335159	C	T	PCDH12	c.2258G>A	NM_016580.4	NP_057664.1:p.(Arg753Gln)	NC_000005.9:g.141335159C>T	VUS	1 lab	8676f86ee7
X:153133914 L1CAM C>G	X	153133914	153133914	C	G	L1CAM	c.1547-1G>C	NM_001278116.2	NP_001265045.1:p.?	NC_000023.10:g.153133914C>G	(Likely) pathogenic	1 lab	867b812de1
8:92086059 OTUD6B A>C	8	92086059	92086059	A	C	OTUD6B	c.235A>C	NM_016023.5	NP_057107.4:p.(Ile79Leu)	NC_000008.10:g.92086059A>C	VUS	1 lab	867c31962c
3:51399303 DOCK3 A>T	3	51399303	51399303	A	T	DOCK3	c.5020A>T	NM_004947.5	NP_004938.1:p.(Met1674Leu)	NC_000003.11:g.51399303A>T	VUS	1 lab	867f858b11
18:58039117 MC4R G>A	18	58039117	58039117	G	A	MC4R	c.466C>T	NM_005912.3	NP_005903.2:p.(Gln156Ter)	NC_000018.9:g.58039117G>A	(Likely) pathogenic	1 lab	867f891b9b
18:21453046 LAMA3 G>T	18	21453046	21453046	G	T	LAMA3	c.38G>T	NM_000227.6	NP_000218.3:p.(Gly13Val)	NC_000018.9:g.21453046G>T	VUS	1 lab	8a4a3755cc
19:11144131 SMARCA4 T>A	19	11144131	11144131	T	A	SMARCA4	c.3712T>A	NM_001128844.3	NP_001122316.1:p.(Ser1238Thr)	NC_000019.9:g.11144131T>A	(Likely) pathogenic	1 lab	8683895fcf
3:48603714 COL7A1 A>T	3	48603714	48603714	A	T	COL7A1	c.8393T>A	NM_000094.3	NP_000085.1:p.(Met2798Lys)	NC_000003.11:g.48603714A>T	(Likely) pathogenic	1 lab	8684aa55db
5:86667958 RASA1 A>G	5	86667958	86667958	A	G	RASA1	c.1722A>G	NM_002890.3	NP_002881.1:p.(Ala574=)	NC_000005.9:g.86667958A>G	(Likely) benign	1 lab	8687ce9c27
6:160196343 ACAT2 A>G	6	160196343	160196343	A	G	ACAT2	c.632A>G	NM_005891.3	NP_005882.2:p.(Lys211Arg)	NC_000006.11:g.160196343A>G	(Likely) benign	1 lab	8687e879ff
3:4752120 ITPR1 G>A	3	4752120	4752120	G	A	ITPR1	c.4882G>A	NM_002222.7	NP_002213.5:p.(Ala1628Thr)	NC_000003.11:g.4752120G>A	VUS	1 lab	868ac15bd4
X:153583692 FLNA G>A	X	153583692	153583692	G	A	FLNA	c.4946-252C>T	NM_001456.4	NP_001447.2:p.?	NC_000023.10:g.153583692G>A	(Likely) benign	1 lab	868e959cea
12:22061030 ABCC9 T>C	12	22061030	22061030	T	C	ABCC9	c.1436A>G	NM_020297.4	NP_064693.2:p.(Glu479Gly)	NC_000012.11:g.22061030T>C	(Likely) benign	1 lab	8697dfdcb2
16:2112996 TSC2 G>T	16	2112996	2112996	G	T	TSC2	c.1385G>T	NM_001114382.3	NP_001107854.1:p.(Arg462Leu)	NC_000016.9:g.2112996G>T	VUS	1 lab	86985abef6
6:123581788 TRDN A>AT	6	123581788	123581789	A	AT	TRDN	c.1805-6_1805-5insA	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581788_123581789insT	(Likely) benign	1 lab	86a4928e85
11:18424451 LDHA C>T	11	18424451	18424451	C	T	LDHA	c.570C>T	NM_001165414.2	NP_001158886.1:p.(Ser190=)	NC_000011.9:g.18424451C>T	(Likely) benign	1 lab	86a59b300a
11:108115590 ATM CT>C	11	108115590	108115593	CT	C	ATM	c.741del	NM_000051.4	NP_000042.3:p.(Arg248GlufsTer7)	NC_000011.9:g.108115593del	(Likely) pathogenic	1 lab	86a6b7281b
1:164790786 PBX1 C>T	1	164790786	164790786	C	T	PBX1	c.1123C>T	NM_002585.4	NP_002576.1:p.(Arg375Cys)	NC_000001.10:g.164790786C>T	VUS	1 lab	86a7541384
9:130605413 ENG G>A	9	130605413	130605413	G	A	ENG	c.179C>T	NM_000118.3	NP_000109.1:p.(Ala60Val)	NC_000009.11:g.130605413G>A	VUS	1 lab	86a98df669
10:89475552 PAPSS2 C>T	10	89475552	89475552	C	T	PAPSS2	c.817C>T	NM_001015880.2	NP_001015880.1:p.(Arg273Trp)	NC_000010.10:g.89475552C>T	VUS	1 lab	86aa99aba3
4:114117623 ANK2 G>A	4	114117623	114117623	G	A	ANK2	c.285+1G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114117623G>A	VUS	1 lab	86b26001e2
3:142280258 ATR C>A	3	142280258	142280258	C	A	ATR	c.1176G>T	NM_001184.4	NP_001175.2:p.(Leu392Phe)	NC_000003.11:g.142280258C>A	VUS	1 lab	86b5acb821
6:29910527 HLA-A C>T	6	29910527	29910527	C	T	HLA-A	c.74-7C>T	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910527C>T	(Likely) benign	1 lab	86bc72df7a
18:28598682 DSC3 T>C	18	28598682	28598682	T	C	DSC3	c.1027A>G	NM_024423.4	NP_077741.2:p.(Ile343Val)	NC_000018.9:g.28598682T>C	VUS	1 lab	86be0079a5
12:27835402 PPFIBP1 A>T	12	27835402	27835402	A	T	PPFIBP1	c.1688A>T	NM_001198915.2	NP_001185844.1:p.(His563Leu)	NC_000012.11:g.27835402A>T	VUS	1 lab	86c1cf0b78
12:27802975 PPFIBP1 G>C	12	27802975	27802975	G	C	PPFIBP1	c.45G>C	NM_001198915.2	NP_001185844.1:p.(Gln15His)	NC_000012.11:g.27802975G>C	VUS	1 lab	86c44d9bce
18:67871343 RTTN A>C	18	67871343	67871343	A	C	RTTN	c.376T>G	NM_173630.4	NP_775901.3:p.(Ser126Ala)	NC_000018.9:g.67871343A>C	(Likely) benign	1 lab	86c6ec80c4
2:179417168 TTN T>TA	2	179417168	179417170	T	TA	TTN	c.90458dup	NM_001267550.2	NP_001254479.2:p.(Leu30153PhefsTer4)	NC_000002.11:g.179417170dup	(Likely) pathogenic	1 lab	86c7f70379
2:25043610 ADCY3 C>T	2	25043610	25043610	C	T	ADCY3	c.3235G>A	NM_004036.5	NP_004027.2:p.(Val1079Ile)	NC_000002.11:g.25043610C>T	VUS	1 lab	86c91dc945
9:21971155 CDKN2A G>A	9	21971155	21971155	G	A	CDKN2A	c.203C>T	NM_000077.5	NP_000068.1:p.(Ala68Val)	NC_000009.11:g.21971155G>A	(Likely) pathogenic	1 lab	86ca4fda46
14:89327676 TTC8 G>C	14	89327676	89327676	G	C	TTC8	c.879G>C	NM_198309.3	NP_938051.1:p.(Glu293Asp)	NC_000014.8:g.89327676G>C	VUS	1 lab	86cd593722
6:143074700 HIVEP2 T>C	6	143074700	143074700	T	C	HIVEP2	c.6885A>G	NM_006734.4	NP_006725.3:p.(Pro2295=)	NC_000006.11:g.143074700T>C	(Likely) benign	1 lab	86ce7b805d
16:4937182 PPL C>G	16	4937182	4937182	C	G	PPL	c.2561G>C	NM_002705.5	NP_002696.4:p.(Arg854Thr)	NC_000016.9:g.4937182C>G	VUS	1 lab	86d137551c
12:7046154 ATN1 C>A	12	7046154	7046154	C	A	ATN1	c.1724C>A	NM_001007026.2	NP_001007027.1:p.(Ser575Tyr)	NC_000012.11:g.7046154C>A	VUS	1 lab	86d6ac170f
3:48618048 COL7A1 C>A	3	48618048	48618048	C	A	COL7A1	c.5018G>T	NM_000094.4	NP_000085.1:p.(Gly1673Val)	NC_000003.11:g.48618048C>A	(Likely) pathogenic	1 lab	86d724c942
7:142640916 KEL G>A	7	142640916	142640916	G	A	KEL	c.1546C>T	NM_000420.3	NP_000411.1:p.(Arg516Ter)	NC_000007.13:g.142640916G>A	(Likely) pathogenic	1 lab	86d7281f63
1:43296118 ERMAP G>A	1	43296118	43296118	G	A	ERMAP	c.-2G>A	NM_001017922.2	NP_001017922.1:p.?	NC_000001.10:g.43296118G>A	(Likely) benign	1 lab	86da07dc89
18:29122688 DSG2 C>T	18	29122688	29122688	C	T	DSG2	c.2207C>T	NM_001943.5	NP_001934.2:p.(Thr736Ile)	NC_000018.9:g.29122688C>T	VUS	1 lab	86e337abef
19:45867101 ERCC2 C>T	19	45867101	45867101	C	T	ERCC2	c.1018G>A	NM_000400.4	NP_000391.1:p.(Val340Met)	NC_000019.9:g.45867101C>T	VUS	1 lab	86e5a1512b
19:10250387 DNMT1 G>A	19	10250387	10250387	G	A	DNMT1	c.3913C>T	NM_001130823.3	NP_001124295.1:p.(Arg1305Cys)	NC_000019.9:g.10250387G>A	VUS	1 lab	86e9fc9302
14:103430929 CDC42BPB A>G	14	103430929	103430929	A	G	CDC42BPB	c.2636T>C	NM_006035.4	NP_006026.3:p.(Leu879Pro)	NC_000014.8:g.103430929A>G	VUS	1 lab	86eacbe628
6:42932099 PEX6 T>A	6	42932099	42932099	T	A	PEX6	c.2917A>T	NM_000287.4	NP_000278.3:p.(Ile973Phe)	NC_000006.11:g.42932099T>A	VUS	1 lab	8b0613c845
7:151960162 KMT2C T>C	7	151960162	151960162	T	C	KMT2C	c.1238A>G	NM_170606.3	NP_733751.2:p.(Tyr413Cys)	NC_000007.13:g.151960162T>C	VUS	1 lab	86ee551d33
1:160321968 NCSTN G>A	1	160321968	160321968	G	A	NCSTN	c.968G>A	NM_015331.3	NP_056146.1:p.(Arg323His)	NC_000001.10:g.160321968G>A	VUS	1 lab	86eeda1ee0
7:98574218 TRRAP C>T	7	98574218	98574218	C	T	TRRAP	c.7997C>T	NM_003496.4	NP_003487.1:p.(Pro2666Leu)	NC_000007.13:g.98574218C>T	VUS	1 lab	86f4433afd
16:3778708 CREBBP C>T	16	3778708	3778708	C	T	CREBBP	c.6340G>A	NM_004380.3	NP_004371.2:p.(Gly2114Ser)	NC_000016.9:g.3778708C>T	VUS	1 lab	86f67b2089
8:70515466 SULF1 G>A	8	70515466	70515466	G	A	SULF1	c.1101G>A	NM_001128205.2	NP_001121677.1:p.(Thr367=)	NC_000008.10:g.70515466G>A	(Likely) benign	1 lab	86fcf74e35
14:75513828 MLH3 G>A	14	75513828	75513828	G	A	MLH3	c.2531C>T	NM_001040108.2	NP_001035197.1:p.(Pro844Leu)	NC_000014.8:g.75513828G>A	(Likely) benign	1 lab	86fe0e0432
7:151875100 KMT2C T>TA	7	151875100	151875127	T	TA	KMT2C	c.7443-6dup	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875127dup	(Likely) benign	1 lab	87063b9fea
11:65838055 PACS1 C>CGCCGCAGCAGCAGCAGCAGCA	11	65838055	65838081	C	CGCCGCAGCAGCAGCAGCAGCA	PACS1	c.104_124dup	NM_018026.4	NP_060496.2:p.(Gln35_Pro41dup)	NC_000011.9:g.65838061_65838081dup	VUS	1 lab	870741b297
2:166897989 SCN1A G>A	2	166897989	166897989	G	A	SCN1A	c.2177-10C>T	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166897989G>A	(Likely) benign	1 lab	871064bff3
15:89449954 MFGE8 C>T	15	89449954	89449954	C	T	MFGE8	c.443G>A	NM_005928.4	NP_005919.2:p.(Arg148His)	NC_000015.9:g.89449954C>T	(Likely) benign	1 lab	8711fa1291
19:13470592 CACNA1A G>A	19	13470592	13470592	G	A	CACNA1A	c.806C>T	NM_001127222.2	NP_001120694.1:p.(Pro269Leu)	NC_000019.9:g.13470592G>A	VUS	1 lab	871c54d02f
8:43028868 HGSNAT C>T	8	43028868	43028868	C	T	HGSNAT	c.833C>T	NM_152419.3	NP_689632.2:p.(Ala278Val)	NC_000008.10:g.43028868C>T	(Likely) pathogenic	1 lab	871d897fa7
9:101867522 TGFBR1 T>C	9	101867522	101867522	T	C	TGFBR1	c.35T>C	NM_004612.4	NP_004603.1:p.(Leu12Pro)	NC_000009.11:g.101867522T>C	VUS	1 lab	87242f71cc
3:12573103 TSEN2 C>T	3	12573103	12573103	C	T	TSEN2	c.1283C>T	NM_025265.4	NP_079541.1:p.(Thr428Ile)	NC_000003.11:g.12573103C>T	VUS	1 lab	8724525738
10:92675978 ANKRD1 CAT>C	10	92675978	92675980	CAT	C	ANKRD1	c.599_600del	NM_014391.3	NP_055206.2:p.(Asp200GlyfsTer8)	NC_000010.10:g.92675979_92675980del	VUS	1 lab	8727c3c6a5
5:6600150 NSUN2 G>A	5	6600150	6600150	G	A	NSUN2	c.2193C>T	NM_017755.6	NP_060225.4:p.(Asp731=)	NC_000005.9:g.6600150G>A	(Likely) benign	1 lab	8729d23f8e
8:21973890 HR CAG>C	8	21973890	21973892	CAG	C	HR	c.3428_3429del	NM_005144.5	NP_005135.2:p.(Pro1143ArgfsTer19)	NC_000008.10:g.21973891_21973892del	(Likely) pathogenic	1 lab	872a3b2b73
1:17313284 ATP13A2 G>C	1	17313284	17313284	G	C	ATP13A2	c.3235+16C>G	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17313284G>C	(Likely) benign	1 lab	8730e25087
7:21640529 DNAH11 T>C	7	21640529	21640529	T	C	DNAH11				NC_000007.13:g.21640529T>C	VUS	1 lab	2fcb941dce
19:13010520 SYCE2 A>G	19	13010520	13010520	A	G	SYCE2	c.612+298T>C	NM_001105578.2	NP_001099048.1:p.?	NC_000019.9:g.13010520A>G	(Likely) benign	1 lab	873242dc4a
12:6575150 VAMP1 C>T	12	6575150	6575150	C	T	VAMP1	c.146G>A	NM_199245.3	NP_954740.1:p.(Arg49His)	NC_000012.11:g.6575150C>T	VUS	1 lab	873968c355
18:34320754 FHOD3 C>T	18	34320754	34320754	C	T	FHOD3	c.3187C>T	NM_025135.5	NP_079411.2:p.(Arg1063Ter)	NC_000018.9:g.34320754C>T	VUS	1 lab	873b5e0532
1:53793510 LRP8 CTG>C	1	53793510	53793512	CTG	C	LRP8	c.73_74del	NM_004631.5	NP_004622.2:p.(Gln25AlafsTer10)	NC_000001.10:g.53793511_53793512del	VUS	1 lab	873c63419d
16:2122857 TSC2 G>T	16	2122857	2122857	G	T	TSC2	c.2228G>T	NM_000548.5	NP_000539.2:p.(Gly743Val)	NC_000016.9:g.2122857G>T	VUS	1 lab	873d14e41a
5:98192287 CHD1 G>A	5	98192287	98192287	G	A	CHD1	c.4930C>T	NM_001270.4	NP_001261.2:p.(Arg1644Trp)	NC_000005.9:g.98192287G>A	VUS	1 lab	874332de27
12:52845744 KRT6B C>T	12	52845744	52845744	C	T	KRT6B	c.119G>A	NM_005555.4	NP_005546.2:p.(Arg40His)	NC_000012.11:g.52845744C>T	(Likely) benign	1 lab	874894b18d
12:133237753 POLE G>T	12	133237753	133237753	G	T	POLE	c.2865-3C>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133237753G>T	(Likely) benign	1 lab	874a44d187
11:71146873 DHCR7 C>A	11	71146873	71146873	C	A	DHCR7	c.976G>T	NM_001360.3	NP_001351.2:p.(Val326Leu)	NC_000011.9:g.71146873C>A	(Likely) pathogenic	1 lab	874fa2a8c3
6:143092508 HIVEP2 G>A	6	143092508	143092508	G	A	HIVEP2	c.3368C>T	NM_006734.4	NP_006725.3:p.(Pro1123Leu)	NC_000006.11:g.143092508G>A	VUS	1 lab	87558b008e
5:141334683 PCDH12 G>A	5	141334683	141334683	G	A	PCDH12	c.2734C>T	NM_016580.4	NP_057664.1:p.(Arg912Trp)	NC_000005.9:g.141334683G>A	VUS	1 lab	8755ddec8d
9:71831398 TJP2 T>C	9	71831398	71831398	T	C	TJP2	c.239+19T>C	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71831398T>C	(Likely) benign	1 lab	876017a818
2:179470136 TTN C>T	2	179470136	179470136	C	T	TTN	c.46177+5G>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179470136C>T	VUS	1 lab	876497cf24
12:49426627 KMT2D TGCTGTTGCTGCTGTTGAA>T	12	49426627	49426658	TGCTGTTGCTGCTGTTGAA	T	KMT2D	c.11843_11860del	NM_003482.4	NP_003473.3:p.(Leu3948_Gln3953del)	NC_000012.11:g.49426641_49426658del	VUS	1 lab	8765a8a3a4
3:78649363 ROBO1 C>T	3	78649363	78649363	C	T	ROBO1	c.4841G>A	NM_002941.4	NP_002932.1:p.(Ser1614Asn)	NC_000003.11:g.78649363C>T	VUS	1 lab	8766f848e4
13:32937395 BRCA2 CT>C	13	32937395	32937397	CT	C	BRCA2	c.8058del	NM_000059.4	NP_000050.3:p.(Val2687PhefsTer7)	NC_000013.10:g.32937397del	(Likely) pathogenic	1 lab	8771206445
1:114444403 AP4B1 T>G	1	114444403	114444403	T	G	AP4B1	c.443A>C	NM_006594.5	NP_006585.2:p.(His148Pro)	NC_000001.10:g.114444403T>G	(Likely) pathogenic	1 lab	8771f8241f
16:11118715 CLEC16A C>G	16	11118715	11118715	C	G	CLEC16A	c.1474C>G	NM_015226.3	NP_056041.1:p.(Pro492Ala)	NC_000016.9:g.11118715C>G	VUS	1 lab	8771fc9ad0
19:17212814 MYO9B A>G	19	17212814	17212814	A	G	MYO9B	c.287A>G	NM_004145.4	NP_004136.2:p.(Gln96Arg)	NC_000019.9:g.17212814A>G	VUS	1 lab	87728d1a94
8:144993436 PLEC T>C	8	144993436	144993436	T	C	PLEC	c.10634A>G	NM_000445.5	NP_000436.2:p.(His3545Arg)	NC_000008.10:g.144993436T>C	VUS	1 lab	8776a5bd4f
15:89391160 ACAN C>A	15	89391160	89391160	C	A	ACAN	c.1623C>A	NM_013227.4	NP_037359.3:p.(Pro541=)	NC_000015.9:g.89391160C>A	(Likely) benign	1 lab	87797a6ec2
11:6636444 TPP1 C>T	11	6636444	6636444	C	T	TPP1	c.1383G>A	NM_000391.4	NP_000382.3:p.(Val461=)	NC_000011.9:g.6636444C>T	(Likely) benign	1 lab	8780d26bef
2:152490219 NEB A>G	2	152490219	152490219	A	G	NEB	c.9363T>C	NM_001271208.2	NP_001258137.2:p.(Pro3121=)	NC_000002.11:g.152490219A>G	(Likely) benign	1 lab	878bf9b1ee
8:70540472 SULF1 G>T	8	70540472	70540472	G	T	SULF1	c.2108+1G>T	NM_001128205.2	NP_001121677.1:p.?	NC_000008.10:g.70540472G>T	VUS	1 lab	878c9cf7cc
4:140270643 NAA15 T>G	4	140270643	140270643	T	G	NAA15	c.719T>G	NM_057175.5	NP_476516.1:p.(Leu240Trp)	NC_000004.11:g.140270643T>G	VUS	1 lab	8792a3ab65
20:30414505 MYLK2 TGTTCATGGAGTA>T	20	30414505	30414519	TGTTCATGGAGTA	T	MYLK2	c.1073_1082+2del	NM_033118.4	NP_149109.1:p.?	NC_000020.10:g.30414508_30414519del	VUS	1 lab	8792bb3bcc
6:111912599 TRAF3IP2 G>A	6	111912599	111912599	G	A	TRAF3IP2	c.691C>T	NM_147686.4	NP_679211.2:p.(Leu231Phe)	NC_000006.11:g.111912599G>A	VUS	1 lab	8793eb72aa
8:77895865 PEX2 A>G	8	77895865	77895865	A	G	PEX2	c.550T>C	NM_001172086.2	NP_001165557.2:p.(Cys184Arg)	NC_000008.10:g.77895865A>G	(Likely) benign	1 lab	87951f001d
10:105803306 COL17A1 G>T	10	105803306	105803306	G	T	COL17A1	c.2468C>A	NM_000494.4	NP_000485.3:p.(Pro823Gln)	NC_000010.10:g.105803306G>T	VUS	1 lab	87a3559255
2:209190330 PIKFYVE T>C	2	209190330	209190330	T	C	PIKFYVE	c.2795T>C	NM_015040.4	NP_055855.2:p.(Leu932Ser)	NC_000002.11:g.209190330T>C	(Likely) benign	1 lab	87a600cbac
2:179522844 TTN G>A	2	179522844	179522844	G	A	TTN	c.37752C>T	NM_001267550.2	NP_001254479.2:p.(Pro12584=)	NC_000002.11:g.179522844G>A	(Likely) benign	1 lab	87a651d6e0
11:18327684 HPS5 G>T	11	18327684	18327684	G	T	HPS5	c.822C>A	NM_181507.2	NP_852608.1:p.(Leu274=)	NC_000011.9:g.18327684G>T	(Likely) benign	1 lab	87a7846ec4
15:28356943 HERC2 G>A	15	28356943	28356943	G	A	HERC2	c.14471C>T	NM_004667.6	NP_004658.3:p.(Ser4824Leu)	NC_000015.9:g.28356943G>A	VUS	1 lab	87aa8e1925
2:166012305 SCN3A C>T	2	166012305	166012305	C	T	SCN3A	c.1140G>A	NM_006922.4	NP_008853.3:p.(Met380Ile)	NC_000002.11:g.166012305C>T	VUS	1 lab	87ab4face9
4:85678252 WDFY3 A>C	4	85678252	85678252	A	C	WDFY3	c.5251T>G	NM_014991.6	NP_055806.2:p.(Cys1751Gly)	NC_000004.11:g.85678252A>C	(Likely) benign	1 lab	87b12e6492
12:56091754 ITGA7 T>C	12	56091754	56091754	T	C	ITGA7	c.1249A>G	NM_002206.3	NP_002197.2:p.(Ser417Gly)	NC_000012.11:g.56091754T>C	VUS	1 lab	87b2b03350
2:8871439 KIDINS220 G>A	2	8871439	8871439	G	A	KIDINS220	c.4727C>T	NM_020738.4	NP_065789.1:p.(Ala1576Val)	NC_000002.11:g.8871439G>A	VUS	1 lab	87b5cd47d2
6:29912856 HLA-A A>T	6	29912856	29912856	A	T	HLA-A	c.1033A>T	NM_002116.8	NP_002107.3:p.(Thr345Ser)	NC_000006.11:g.29912856A>T	(Likely) benign	1 lab	87b67157b7
9:130223492 LRSAM1 G>A	9	130223492	130223492	G	A	LRSAM1	c.362G>A	NM_138361.5	NP_612370.3:p.(Arg121His)	NC_000009.11:g.130223492G>A	VUS	1 lab	87ba628f4b
21:34804532 IFNGR2 C>T	21	34804532	34804532	C	T	IFNGR2	c.667C>T	NM_001329128.2	NP_001316057.1:p.(Pro223Ser)	NC_000021.8:g.34804532C>T	VUS	1 lab	87ba76ad6d
5:35874575 IL7R C>T	5	35874575	35874575	C	T	IL7R	c.731C>T	NM_002185.5	NP_002176.2:p.(Thr244Ile)	NC_000005.9:g.35874575C>T	(Likely) benign	1 lab	87bce74a68
6:29911030 HLA-A C>T	6	29911030	29911030	C	T	HLA-A	c.344-15C>T	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29911030C>T	(Likely) benign	1 lab	87c8e83a1b
10:112572717 RBM20 T>C	10	112572717	112572717	T	C	RBM20	c.2550+12T>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112572717T>C	(Likely) benign	1 lab	87ca67c596
X:79999747 BRWD3 T>G	X	79999747	79999747	T	G	BRWD3	c.597A>C	NM_153252.5	NP_694984.5:p.(Ser199=)	NC_000023.10:g.79999747T>G	(Likely) benign	1 lab	87d8f101e8
11:119103249 CBL G>A	11	119103249	119103249	G	A	CBL	c.287G>A	NM_005188.4	NP_005179.2:p.(Arg96His)	NC_000011.9:g.119103249G>A	VUS	1 lab	87da8ba2e6
15:76726465 SCAPER G>T	15	76726465	76726465	G	T	SCAPER	c.2527C>A	NM_001145923.2	NP_001139395.1:p.(Pro843Thr)	NC_000015.9:g.76726465G>T	(Likely) benign	1 lab	87dd795b91
1:35227177 GJB4 A>C	1	35227177	35227177	A	C	GJB4	c.322A>C	NM_153212.3	NP_694944.1:p.(Lys108Gln)	NC_000001.10:g.35227177A>C	VUS	1 lab	87de38785c
9:141012489 CACNA1B C>T	9	141012489	141012489	C	T	CACNA1B	c.5869C>T	NM_000718.4	NP_000709.1:p.(Arg1957Cys)	NC_000009.11:g.141012489C>T	VUS	1 lab	87e4ad7bd0
4:140297627 NAA15 G>C	4	140297627	140297627	G	C	NAA15	c.2056G>C	NM_057175.5	NP_476516.1:p.(Glu686Gln)	NC_000004.11:g.140297627G>C	(Likely) pathogenic	1 lab	87e65fb6c4
4:47808995 CORIN G>A	4	47808995	47808995	G	A	CORIN	c.133C>T	NM_006587.4	NP_006578.2:p.(Arg45Trp)	NC_000004.11:g.47808995G>A	VUS	1 lab	87e90c76ca
3:37090506 MLH1 C>T	3	37090506	37090506	C	T	MLH1	c.2101C>T	NM_000249.4	NP_000240.1:p.(Gln701Ter)	NC_000003.11:g.37090506C>T	(Likely) pathogenic	1 lab	87f2db431b
X:68382761 PJA1 C>T	X	68382761	68382761	C	T	PJA1	c.321G>A	NM_145119.4	NP_660095.1:p.(Ser107=)	NC_000023.10:g.68382761C>T	(Likely) benign	1 lab	87f6030113
11:63979162 FERMT3 C>T	11	63979162	63979162	C	T	FERMT3	c.729C>T	NM_178443.3	NP_848537.1:p.(Ala243=)	NC_000011.9:g.63979162C>T	(Likely) benign	1 lab	87fd36dd59
5:156721844 CYFIP2 G>A	5	156721844	156721844	G	A	CYFIP2	c.260G>A	NM_001037333.3	NP_001032410.1:p.(Arg87His)	NC_000005.9:g.156721844G>A	(Likely) pathogenic	1 lab	8800acc2b5
13:32914800 BRCA2 C>A	13	32914800	32914800	C	A	BRCA2	c.6308C>A	NM_000059.4	NP_000050.3:p.(Ser2103Ter)	NC_000013.10:g.32914800C>A	(Likely) pathogenic	1 lab	880e732b14
6:43568802 POLH C>T	6	43568802	43568802	C	T	POLH	c.738C>T	NM_006502.3	NP_006493.1:p.(Leu246=)	NC_000006.11:g.43568802C>T	(Likely) benign	1 lab	88165b530c
19:36210898 KMT2B C>T	19	36210898	36210898	C	T	KMT2B	c.649C>T	NM_014727.3	NP_055542.1:p.(Arg217Trp)	NC_000019.9:g.36210898C>T	(Likely) benign	1 lab	8817575a23
7:117431784 CTTNBP2 C>T	7	117431784	117431784	C	T	CTTNBP2	c.1466G>A	NM_033427.3	NP_219499.1:p.(Arg489Gln)	NC_000007.13:g.117431784C>T	VUS	1 lab	881a4414f5
1:19062163 PAX7 C>T	1	19062163	19062163	C	T	PAX7	c.1193C>T	NM_002584.3	NP_002575.1:p.(Pro398Leu)	NC_000001.10:g.19062163C>T	VUS	1 lab	881b087dd9
3:38616931 SCN5A G>A	3	38616931	38616931	G	A	SCN5A	c.3523C>T	NM_001099404.2	NP_001092874.1:p.(Arg1175Cys)	NC_000003.11:g.38616931G>A	VUS	1 lab	881f842337
19:4816719 TICAM1 G>A	19	4816719	4816719	G	A	TICAM1	c.1671C>T	NM_182919.4	NP_891549.1:p.(Asp557=)	NC_000019.9:g.4816719G>A	(Likely) benign	1 lab	881fe0c547
2:25470007 DNMT3A CA>C	2	25470007	25470008	CA	C	DNMT3A	c.1034del	NM_175629.2	NP_783328.1:p.(Met345SerfsTer3)	NC_000002.11:g.25470008del	(Likely) pathogenic	1 lab	8820315706
2:215657021 BARD1 C>G	2	215657021	215657021	C	G	BARD1	c.364G>C	NM_000465.4	NP_000456.2:p.(Asp122His)	NC_000002.11:g.215657021C>G	VUS	1 lab	8821f9f646
5:14487797 TRIO T>G	5	14487797	14487797	T	G	TRIO	c.7060T>G	NM_007118.4	NP_009049.2:p.(Ser2354Ala)	NC_000005.9:g.14487797T>G	VUS	1 lab	88221fbed2
6:56391365 DST C>T	6	56391365	56391365	C	T	DST	c.17923G>A	NM_001374736.1	NP_001361665.1:p.(Glu5975Lys)	NC_000006.11:g.56391365C>T	VUS	1 lab	8824df9022
2:240900607 NDUFA10 TG>T	2	240900607	240900612	TG	T	NDUFA10	c.1000-5del	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240900612del	(Likely) benign	1 lab	8826f553c4
9:5090451 JAK2 C>T	9	5090451	5090451	C	T	JAK2	c.2767C>T	NM_004972.4	NP_004963.1:p.(Arg923Cys)	NC_000009.11:g.5090451C>T	VUS	1 lab	882d53592c
14:50750699 L2HGDH A>C	14	50750699	50750699	A	C	L2HGDH	c.593T>G	NM_024884.3	NP_079160.1:p.(Val198Gly)	NC_000014.8:g.50750699A>C	(Likely) benign	1 lab	882ee2fdbd
X:32662304 DMD G>C	X	32662304	32662304	G	C	DMD	c.1276C>G	NM_004006.3	NP_003997.2:p.(Leu426Val)	NC_000023.10:g.32662304G>C	VUS	1 lab	883006fdfa
11:67262936 PITPNM1 G>A	11	67262936	67262936	G	A	PITPNM1	c.2455C>T	NM_004910.3	NP_004901.2:p.(Pro819Ser)	NC_000011.9:g.67262936G>A	VUS	1 lab	8834b697c3
10:75394283 MYOZ1 C>T	10	75394283	75394283	C	T	MYOZ1	c.461G>A	NM_021245.4	NP_067068.1:p.(Gly154Glu)	NC_000010.10:g.75394283C>T	VUS	1 lab	883548f2cd
18:19383913 MIB1 C>T	18	19383913	19383913	C	T	MIB1	c.1417C>T	NM_020774.4	NP_065825.1:p.(Gln473Ter)	NC_000018.9:g.19383913C>T	(Likely) pathogenic	1 lab	8836cff8a6
5:14487627 TRIO G>A	5	14487627	14487627	G	A	TRIO	c.6890G>A	NM_007118.4	NP_009049.2:p.(Gly2297Asp)	NC_000005.9:g.14487627G>A	VUS	1 lab	883b1e60ae
14:23889119 MYH7 TCTC>T	14	23889119	23889124	TCTC	T	MYH7	c.3658_3660del	NM_000257.4	NP_000248.2:p.(Glu1220del)	NC_000014.8:g.23889122_23889124del	(Likely) pathogenic	1 lab	883c494674
1:153789848 GATAD2B C>T	1	153789848	153789848	C	T	GATAD2B	c.900G>A	NM_020699.4	NP_065750.1:p.(Pro300=)	NC_000001.10:g.153789848C>T	(Likely) benign	1 lab	884487d550
3:129214406 IFT122 G>A	3	129214406	129214406	G	A	IFT122	c.2317G>A	NM_052985.4	NP_443711.2:p.(Ala773Thr)	NC_000003.11:g.129214406G>A	VUS	1 lab	88476a1245
6:110146457 FIG4 C>T	6	110146457	110146457	C	T	FIG4	c.2713C>T	NM_014845.6	NP_055660.1:p.(Arg905Cys)	NC_000006.11:g.110146457C>T	VUS	1 lab	884c5a82fd
X:153609116 EMD C>T	X	153609116	153609116	C	T	EMD	c.403C>T	NM_000117.3	NP_000108.1:p.(His135Tyr)	NC_000023.10:g.153609116C>T	(Likely) benign	1 lab	884f91e3d1
1:241676973 FH G>A	1	241676973	241676973	G	A	FH	c.308C>T	NM_000143.4	NP_000134.2:p.(Ala103Val)	NC_000001.10:g.241676973G>A	VUS	1 lab	88542a1d8e
11:66000428 PACS1 C>T	11	66000428	66000428	C	T	PACS1	c.1732-3C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.66000428C>T	(Likely) benign	1 lab	88544fe64c
19:7163154 INSR G>A	19	7163154	7163154	G	A	INSR	c.1918C>T	NM_000208.4	NP_000199.2:p.(Leu640=)	NC_000019.9:g.7163154G>A	(Likely) benign	1 lab	8854509766
14:95570268 DICER1 C>T	14	95570268	95570268	C	T	DICER1	c.3465G>A	NM_177438.3	NP_803187.1:p.(Thr1155=)	NC_000014.8:g.95570268C>T	(Likely) benign	1 lab	8856155b1f
6:43748555 VEGFA G>A	6	43748555	43748555	G	A	VEGFA	c.1049G>A	NM_001025366.3	NP_001020537.2:p.(Arg350His)	NC_000006.11:g.43748555G>A	VUS	1 lab	885aa06b2e
9:13143464 MPDZ C>T	9	13143464	13143464	C	T	MPDZ	c.3840+1G>A	NM_003829.5	NP_003820.2:p.?	NC_000009.11:g.13143464C>T	(Likely) pathogenic	1 lab	885ba5876b
1:43394689 SLC2A1 G>A	1	43394689	43394689	G	A	SLC2A1	c.988C>T	NM_006516.4	NP_006507.2:p.(Arg330Ter)	NC_000001.10:g.43394689G>A	(Likely) pathogenic	1 lab	885d8bade5
3:48618917 COL7A1 C>T	3	48618917	48618917	C	T	COL7A1	c.4783-1G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48618917C>T	(Likely) pathogenic	1 lab	886608828e
3:37089098 MLH1 T>A	3	37089098	37089098	T	A	MLH1	c.1820T>A	NM_000249.4	NP_000240.1:p.(Leu607His)	NC_000003.11:g.37089098T>A	(Likely) benign	1 lab	886ba62c01
4:9909923 SLC2A9 G>A	4	9909923	9909923	G	A	SLC2A9	c.962C>T	NM_001001290.2	NP_001001290.1:p.(Pro321Leu)	NC_000004.11:g.9909923G>A	(Likely) benign	1 lab	886fe06d0e
6:129722392 LAMA2 C>T	6	129722392	129722392	C	T	LAMA2	c.5469C>T	NM_000426.4	NP_000417.3:p.(Ser1823=)	NC_000006.11:g.129722392C>T	(Likely) benign	1 lab	887358483c
3:128627933 ACAD9 C>T	3	128627933	128627933	C	T	ACAD9	c.1476C>T	NM_014049.5	NP_054768.2:p.(Pro492=)	NC_000003.11:g.128627933C>T	(Likely) benign	1 lab	8874328dd5
10:75529666 SEC24C C>T	10	75529666	75529666	C	T	SEC24C	c.2755C>T	NM_004922.4	NP_004913.2:p.(Pro919Ser)	NC_000010.10:g.75529666C>T	VUS	1 lab	887d74996a
9:140003427 MAN1B1 A>G	9	140003427	140003427	A	G	MAN1B1	n.2630A>G	NR_045721.2		NC_000009.11:g.140003427A>G	(Likely) benign	1 lab	887f129ca4
17:3427535 TRPV3 C>T	17	3427535	3427535	C	T	TRPV3	c.1700G>A	NM_145068.4	NP_659505.1:p.(Arg567Gln)	NC_000017.10:g.3427535C>T	VUS	1 lab	8880917b77
16:8993014 USP7 G>C	16	8993014	8993014	G	C	USP7	c.2198C>G	NM_001286458.2	NP_001273387.1:p.(Thr733Arg)	NC_000016.9:g.8993014G>C	VUS	1 lab	8889af7847
5:148386526 SH3TC2 G>A	5	148386526	148386526	G	A	SH3TC2	c.3593C>T	NM_024577.4	NP_078853.2:p.(Pro1198Leu)	NC_000005.9:g.148386526G>A	VUS	1 lab	888df84f46
5:127872142 FBN2 CAGT>C	5	127872142	127872147	CAGT	C	FBN2	c.287_289del	NM_001999.4	NP_001990.2:p.(Tyr96del)	NC_000005.9:g.127872145_127872147del	VUS	1 lab	88911d0c55
12:52843779 KRT6B T>C	12	52843779	52843779	T	C	KRT6B	c.816+17A>G	NM_005555.4	NP_005546.2:p.?	NC_000012.11:g.52843779T>C	(Likely) benign	1 lab	8894b4eb28
2:186671218 FSIP2 G>A	2	186671218	186671218	G	A	FSIP2	c.17185G>A	NM_173651.4	NP_775922.3:p.(Val5729Ile)	NC_000002.11:g.186671218G>A	VUS	1 lab	88996bf097
19:33430757 CEP89 T>C	19	33430757	33430757	T	C	CEP89	c.624+6A>G	NM_032816.5	NP_116205.3:p.?	NC_000019.9:g.33430757T>C	(Likely) benign	1 lab	889bef29ba
2:169847389 ABCB11 G>A	2	169847389	169847389	G	A	ABCB11	c.830C>T	NM_003742.4	NP_003733.2:p.(Ala277Val)	NC_000002.11:g.169847389G>A	VUS	1 lab	88a3f0aa03
17:5487134 NLRP1 C>A	17	5487134	5487134	C	A	NLRP1	c.144G>T	NM_033004.4	NP_127497.1:p.(Thr48=)	NC_000017.10:g.5487134C>A	(Likely) benign	1 lab	88a6236c4c
10:43608404 RET C>G	10	43608404	43608404	C	G	RET	c.1752C>G	NM_020975.6	NP_066124.1:p.(Asp584Glu)	NC_000010.10:g.43608404C>G	(Likely) pathogenic	1 lab	88a97bae4a
17:39742953 KRT14 G>A	17	39742953	39742953	G	A	KRT14	c.134C>T	NM_000526.5	NP_000517.3:p.(Thr45Ile)	NC_000017.10:g.39742953G>A	(Likely) benign	1 lab	88a9b47bd8
11:6661462 DCHS1 G>T	11	6661462	6661462	G	T	DCHS1	c.1383C>A	NM_003737.4	NP_003728.1:p.(His461Gln)	NC_000011.9:g.6661462G>T	VUS	1 lab	88af5982b9
16:70698920 MTSS2 C>T	16	70698920	70698920	C	T	MTSS2	c.1208G>A	NM_138383.3	NP_612392.1:p.(Arg403Gln)	NC_000016.9:g.70698920C>T	VUS	1 lab	88b4ef5957
18:10471764 APCDD1 C>T	18	10471764	10471764	C	T	APCDD1	c.480C>T	NM_153000.5	NP_694545.1:p.(Ala160=)	NC_000018.9:g.10471764C>T	(Likely) benign	1 lab	88b509459e
6:29912830 HLA-A T>C	6	29912830	29912830	T	C	HLA-A	c.1013-6T>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29912830T>C	(Likely) benign	1 lab	88b60764d9
18:56411714 MALT1 C>T	18	56411714	56411714	C	T	MALT1	c.1898C>T	NM_006785.4	NP_006776.1:p.(Thr633Ile)	NC_000018.9:g.56411714C>T	VUS	1 lab	88b96ada6d
11:64977354 CAPN1 T>G	11	64977354	64977354	T	G	CAPN1	c.1829T>G	NM_001198868.2	NP_001185797.1:p.(Phe610Cys)	NC_000011.9:g.64977354T>G	VUS	1 lab	88b9d9ff6f
2:106013147 FHL2 C>T	2	106013147	106013147	C	T	FHL2	c.-189G>A	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.106013147C>T	(Likely) benign	1 lab	88c0f897fe
12:49445616 KMT2D A>T	12	49445616	49445616	A	T	KMT2D	c.1850T>A	NM_003482.4	NP_003473.3:p.(Leu617His)	NC_000012.11:g.49445616A>T	(Likely) benign	1 lab	88c7eaac3e
19:11311109 DOCK6 A>T	19	11311109	11311109	A	T	DOCK6	c.5976T>A	NM_020812.4	NP_065863.2:p.(Ile1992=)	NC_000019.9:g.11311109A>T	(Likely) benign	1 lab	88cac7a7ae
7:796430 DNAAF5 C>T	7	796430	796430	C	T	DNAAF5	c.1269C>T	NM_017802.4	NP_060272.3:p.(Ser423=)	NC_000007.13:g.796430C>T	(Likely) benign	1 lab	88d648ca06
14:35577391 PPP2R3C A>C	14	35577391	35577391	A	C	PPP2R3C	c.456T>G	NM_017917.4	NP_060387.2:p.(Tyr152Ter)	NC_000014.8:g.35577391A>C	VUS	1 lab	88dac5712a
6:31084964 CDSN T>C	6	31084964	31084964	T	C	CDSN	c.428A>G	NM_001264.5	NP_001255.4:p.(Asn143Ser)	NC_000006.11:g.31084964T>C	(Likely) benign	1 lab	88de0402e4
12:2721022 CACNA1C C>T	12	2721022	2721022	C	T	CACNA1C	c.3718-47C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2721022C>T	(Likely) benign	1 lab	88e5a5f825
18:28993183 DSG4 A>G	18	28993183	28993183	A	G	DSG4	c.2805A>G	NM_001134453.3	NP_001127925.1:p.(Pro935=)	NC_000018.9:g.28993183A>G	(Likely) benign	1 lab	88e8ad76f0
X:68890051 EDA C>A	X	68890051	68890051	C	A	EDA	c.397-3C>A	NM_001005613.4	NP_001005613.1:p.?	NC_000023.10:g.68890051C>A	(Likely) benign	1 lab	88ea01b06e
5:147498019 SPINK5 G>A	5	147498019	147498019	G	A	SPINK5	c.2132G>A	NM_001127698.2	NP_001121170.1:p.(Arg711Gln)	NC_000005.9:g.147498019G>A	(Likely) benign	1 lab	88ea8b40c9
12:32974351 PKP2 C>T	12	32974351	32974351	C	T	PKP2	c.2084G>A	NM_004572.4	NP_004563.2:p.(Arg695His)	NC_000012.11:g.32974351C>T	VUS	1 lab	88f37269e6
17:29667546 NF1 C>G	17	29667546	29667546	C	G	NF1	c.6882C>G	NM_000267.3	NP_000258.1:p.(Leu2294=)	NC_000017.10:g.29667546C>G	(Likely) benign	1 lab	88f5e4629b
12:49441845 KMT2D C>T	12	49441845	49441845	C	T	KMT2D	c.4139G>A	NM_003482.4	NP_003473.3:p.(Cys1380Tyr)	NC_000012.11:g.49441845C>T	(Likely) pathogenic	1 lab	88f8e92354
12:7053027 RNU7-1 T>C	12	7053027	7053027	T	C	RNU7-1	n.49T>C	NR_023317.1		NC_000012.11:g.7053027T>C	(Likely) benign	1 lab	88f95ff5ba
1:161569569 FCGR2C C>T	1	161569569	161569569	C	T	FCGR2C	n.1047C>T	NR_047648.1		NC_000001.10:g.161569569C>T	(Likely) benign	1 lab	8905c2c111
18:51025797 DCC G>A	18	51025797	51025797	G	A	DCC	c.4028G>A	NM_005215.4	NP_005206.2:p.(Arg1343His)	NC_000018.9:g.51025797G>A	VUS	1 lab	8906cc46d5
12:111885005 SH2B3 A>G	12	111885005	111885005	A	G	SH2B3	c.1003A>G	NM_005475.3	NP_005466.1:p.(Thr335Ala)	NC_000012.11:g.111885005A>G	VUS	1 lab	890b6243ff
12:13761560 GRIN2B C>T	12	13761560	13761560	C	T	GRIN2B	c.1987G>A	NM_000834.5	NP_000825.2:p.(Val663Ile)	NC_000012.11:g.13761560C>T	VUS	1 lab	890bf13d1a
6:24505221 ALDH5A1 G>A	6	24505221	24505221	G	A	ALDH5A1	c.726+8G>A	NM_170740.1	NP_733936.1:p.?	NC_000006.11:g.24505221G>A	(Likely) benign	1 lab	890c0d580d
6:79650764 PHIP A>C	6	79650764	79650764	A	C	PHIP	c.5112T>G	NM_017934.7	NP_060404.4:p.(Asp1704Glu)	NC_000006.11:g.79650764A>C	(Likely) benign	1 lab	8911277c40
17:19251136 B9D1 C>G	17	19251136	19251136	C	G	B9D1	c.302G>C	NM_001321218.2	NP_001308147.1:p.(Arg101Pro)	NC_000017.10:g.19251136C>G	VUS	1 lab	8913170e21
6:152690680 SYNE1 C>T	6	152690680	152690680	C	T	SYNE1	c.9598G>A	NM_033071.4	NP_149062.2:p.(Glu3200Lys)	NC_000006.11:g.152690680C>T	VUS	1 lab	891337e10d
2:61258755 PEX13 TG>T	2	61258755	61258757	TG	T	PEX13	c.296del	NM_002618.4	NP_002609.1:p.(Gly99AspfsTer12)	NC_000002.11:g.61258757del	(Likely) pathogenic	1 lab	8916fed556
13:35731316 NBEA A>G	13	35731316	35731316	A	G	NBEA	c.2753A>G	NM_015678.5	NP_056493.3:p.(Asn918Ser)	NC_000013.10:g.35731316A>G	(Likely) benign	1 lab	891c5da661
7:82579504 PCLO C>T	7	82579504	82579504	C	T	PCLO	c.10400G>A	NM_033026.6	NP_149015.2:p.(Ser3467Asn)	NC_000007.13:g.82579504C>T	VUS	1 lab	891d495cc2
12:102040659 MYBPC1 G>A	12	102040659	102040659	G	A	MYBPC1	c.1084G>A	NM_002465.4	NP_002456.2:p.(Val362Ile)	NC_000012.11:g.102040659G>A	VUS	1 lab	891feaa43b
17:7811230 CHD3 G>A	17	7811230	7811230	G	A	CHD3	c.5222G>A	NM_001005271.3	NP_001005271.2:p.(Arg1741Gln)	NC_000017.10:g.7811230G>A	(Likely) benign	1 lab	892244b1ba
9:21971062 CDKN2A C>G	9	21971062	21971062	C	G	CDKN2A	c.296G>C	NM_001195132.2	NP_001182061.1:p.(Arg99Pro)	NC_000009.11:g.21971062C>G	(Likely) pathogenic	1 lab	8923542edb
2:130832303 POTEF C>A	2	130832303	130832303	C	A	POTEF	c.2742G>T	NM_001099771.2	NP_001093241.1:p.(Glu914Asp)	NC_000002.11:g.130832303C>A	VUS	1 lab	892b82fefd
18:56586442 ZNF532 C>T	18	56586442	56586442	C	T	ZNF532	c.923C>T	NM_018181.6	NP_060651.2:p.(Pro308Leu)	NC_000018.9:g.56586442C>T	VUS	1 lab	892cb40a73
22:42611121 TCF20 G>A	22	42611121	42611121	G	A	TCF20	c.191C>T	NM_005650.4	NP_005641.1:p.(Ala64Val)	NC_000022.10:g.42611121G>A	(Likely) benign	1 lab	89352291a9
19:1005274 GRIN3B C>T	19	1005274	1005274	C	T	GRIN3B	c.1774C>T	NM_138690.3	NP_619635.1:p.(Leu592Phe)	NC_000019.9:g.1005274C>T	VUS	1 lab	8937b25aa8
12:32977027 PKP2 C>CAGTAG	12	32977027	32977031	C	CAGTAG	PKP2	c.1757_1758insCTACT	NM_004572.4	NP_004563.2:p.(Val587TyrfsTer71)	NC_000012.11:g.32977030_32977031insAGAGT	(Likely) pathogenic	1 lab	89388d67fd
10:127458977 MMP21 C>G	10	127458977	127458977	C	G	MMP21	c.1163G>C	NM_147191.1	NP_671724.1:p.(Gly388Ala)	NC_000010.10:g.127458977C>G	VUS	1 lab	893adae237
19:36222944 KMT2B G>T	19	36222944	36222944	G	T	KMT2B	c.5573G>T	NM_014727.3	NP_055542.1:p.(Arg1858Leu)	NC_000019.9:g.36222944G>T	VUS	1 lab	893debb68e
2:109400103 RANBP2 G>A	2	109400103	109400103	G	A	RANBP2	c.9421G>A	NM_006267.5	NP_006258.3:p.(Asp3141Asn)	NC_000002.11:g.109400103G>A	(Likely) benign	1 lab	894278a940
15:89379508 ACAN G>A	15	89379508	89379508	G	A	ACAN	c.70+1G>A	NM_013227.4	NP_037359.3:p.?	NC_000015.9:g.89379508G>A	(Likely) pathogenic	1 lab	89428ee491
17:29664494 NF1 G>A	17	29664494	29664494	G	A	NF1	c.6473G>A	NM_000267.3	NP_000258.1:p.(Arg2158His)	NC_000017.10:g.29664494G>A	VUS	1 lab	89473fe2fe
2:163128827 IFIH1 T>A	2	163128827	163128827	T	A	IFIH1	c.2525A>T	NM_022168.4	NP_071451.2:p.(Glu842Val)	NC_000002.11:g.163128827T>A	VUS	1 lab	8947a9c633
11:57569438 CTNND1 A>G	11	57569438	57569438	A	G	CTNND1	c.1190A>G	NM_001085458.2	NP_001078927.1:p.(Asn397Ser)	NC_000011.9:g.57569438A>G	VUS	1 lab	894a701845
16:5122072 ALG1 G>GGTCT	16	5122072	5122077	G	GGTCT	ALG1	c.208+16_208+19dup	NM_019109.5	NP_061982.3:p.?	NC_000016.9:g.5122074_5122077dup	(Likely) benign	1 lab	894de11504
16:2131648 TSC2 G>A	16	2131648	2131648	G	A	TSC2	c.3663G>A	NM_001114382.3	NP_001107854.1:p.(Ser1221=)	NC_000016.9:g.2131648G>A	VUS	1 lab	89509bcb52
X:106882565 PRPS1 A>G	X	106882565	106882565	A	G	PRPS1	c.163A>G	NM_002764.4	NP_002755.1:p.(Ile55Val)	NC_000023.10:g.106882565A>G	VUS	1 lab	8950bc0909
1:209807843 LAMB3 AAC>A	1	209807843	209807846	AAC	A	LAMB3	c.511_512del	NM_001017402.2	NP_001017402.1:p.(Val171SerfsTer10)	NC_000001.10:g.209807845_209807846del	(Likely) pathogenic	1 lab	8953bfd797
1:181702604 CACNA1E G>A	1	181702604	181702604	G	A	CACNA1E	c.2980G>A	NM_000721.4	NP_000712.2:p.(Gly994Arg)	NC_000001.10:g.181702604G>A	(Likely) benign	1 lab	895499d268
17:17697101 RAI1 AGCAGCAG>A	17	17697101	17697108	AGCAGCAG	A	RAI1	c.840_846del	NM_030665.4	NP_109590.3:p.(Gln280HisfsTer82)	NC_000017.10:g.17697102_17697108del	(Likely) benign	1 lab	89598aafaa
5:33951693 SLC45A2 C>G	5	33951693	33951693	C	G	SLC45A2	c.1122G>C	NM_001012509.4	NP_001012527.2:p.(Leu374Phe)	NC_000005.9:g.33951693C>G	(Likely) benign	1 lab	8961ede1d6
3:185639898 TRA2B T>C	3	185639898	185639898	T	C	TRA2B	c.539A>G	NM_004593.3	NP_004584.1:p.(Asn180Ser)	NC_000003.11:g.185639898T>C	VUS	1 lab	896258ed59
11:5248185 HBB C>A	11	5248185	5248185	C	A	HBB	c.67G>T	NM_000518.5	NP_000509.1:p.(Glu23Ter)	NC_000011.9:g.5248185C>A	(Likely) pathogenic	1 lab	896caab3fc
14:91739252 CCDC88C G>A	14	91739252	91739252	G	A	CCDC88C	c.5804C>T	NM_001080414.4	NP_001073883.2:p.(Pro1935Leu)	NC_000014.8:g.91739252G>A	VUS	1 lab	896d6da890
12:7355204 PEX5 G>A	12	7355204	7355204	G	A	PEX5	c.754-4G>A	NM_001131025.2	NP_001124497.1:p.?	NC_000012.11:g.7355204G>A	(Likely) benign	1 lab	89748aa931
1:3334515 PRDM16 C>G	1	3334515	3334515	C	G	PRDM16	c.2815C>G	NM_022114.4	NP_071397.3:p.(Leu939Val)	NC_000001.10:g.3334515C>G	(Likely) benign	1 lab	8977af7f01
14:50585247 SOS2 G>A	14	50585247	50585247	G	A	SOS2	c.3814C>T	NM_006939.4	NP_008870.2:p.(Arg1272Cys)	NC_000014.8:g.50585247G>A	VUS	1 lab	897b50feaa
10:69918340 MYPN G>A	10	69918340	69918340	G	A	MYPN	c.533G>A	NM_001256268.2	NP_001243197.1:p.(Gly178Glu)	NC_000010.10:g.69918340G>A	VUS	1 lab	897e37fcd7
3:4687284 ITPR1 T>G	3	4687284	4687284	T	G	ITPR1	c.727T>G	NM_001168272.2	NP_001161744.1:p.(Phe243Val)	NC_000003.11:g.4687284T>G	(Likely) pathogenic	1 lab	898104903f
2:197184050 HECW2 C>T	2	197184050	197184050	C	T	HECW2	c.1564G>A	NM_020760.4	NP_065811.1:p.(Glu522Lys)	NC_000002.11:g.197184050C>T	VUS	1 lab	8986648d30
2:179518911 TTN TAGC>T	2	179518911	179518916	TAGC	T	TTN	c.38380+21_38380+23del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518914_179518916del	(Likely) benign	1 lab	8989505db8
1:237890451 RYR2 G>T	1	237890451	237890451	G	T	RYR2	c.10790G>T	NM_001035.3	NP_001026.2:p.(Arg3597Met)	NC_000001.10:g.237890451G>T	VUS	1 lab	8989e64d1c
14:64634098 SYNE2 C>T	14	64634098	64634098	C	T	SYNE2	c.16753C>T	NM_182914.3	NP_878918.2:p.(Arg5585Cys)	NC_000014.8:g.64634098C>T	VUS	1 lab	898c206250
13:32903608 BRCA2 ATT>A	13	32903608	32903611	ATT	A	BRCA2	c.662_663del	NM_000059.4	NP_000050.3:p.(Phe221SerfsTer3)	NC_000013.10:g.32903610_32903611del	(Likely) pathogenic	1 lab	8990767bc1
17:4648628 ZMYND15 G>A	17	4648628	4648628	G	A	ZMYND15	c.2015G>A	NM_001136046.3	NP_001129518.1:p.(Arg672His)	NC_000017.10:g.4648628G>A	VUS	1 lab	89924937b3
3:123005601 ADCY5 G>A	3	123005601	123005601	G	A	ADCY5	c.3588C>T	NM_183357.3	NP_899200.1:p.(Tyr1196=)	NC_000003.11:g.123005601G>A	(Likely) benign	1 lab	899423316e
5:55147400 IL31RA T>C	5	55147400	55147400	T	C	IL31RA	c.2T>C	NM_139017.6	NP_620586.3:p.(Met1?)	NC_000005.9:g.55147400T>C	VUS	1 lab	8999373113
9:123780001 C5 C>A	9	123780001	123780001	C	A	C5	c.1654G>T	NM_001317163.2	NP_001304092.1:p.(Val552Phe)	NC_000009.11:g.123780001C>A	VUS	1 lab	8999d10712
1:201333497 TNNT2 G>A	1	201333497	201333497	G	A	TNNT2	c.388C>T	NM_001001430.3	NP_001001430.1:p.(Arg130Cys)	NC_000001.10:g.201333497G>A	(Likely) pathogenic	1 lab	899abd601a
16:84203819 DNAAF1 AAGAGCCAGAGGGGACCCTCCCAGCTGAGACCCTGCTACTGTCACCGCCTGTGAAGGTTAAAGGAGAGGATGGAGATCG>A	16	84203819	84203925	AAGAGCCAGAGGGGACCCTCCCAGCTGAGACCCTGCTACTGTCACCGCCTGTGAAGGTTAAAGGAGAGGATGGAGATCG	A	DNAAF1	c.1414_1491del	NM_178452.6	NP_848547.4:p.(Thr472_Glu497del)	NC_000016.9:g.84203848_84203925del	VUS	1 lab	899b994109
3:9976159 CRELD1 A>G	3	9976159	9976159	A	G	CRELD1	c.37A>G	NM_015513.6	NP_056328.3:p.(Met13Val)	NC_000003.11:g.9976159A>G	(Likely) benign	1 lab	899f2028f8
12:133147105 FBRSL1 G>A	12	133147105	133147105	G	A	FBRSL1	c.1192G>A	NM_001142641.2	NP_001136113.1:p.(Val398Ile)	NC_000012.11:g.133147105G>A	VUS	1 lab	89a4e7c85f
1:65335018 JAK1 A>G	1	65335018	65335018	A	G	JAK1	c.623T>C	NM_002227.4	NP_002218.2:p.(Leu208Ser)	NC_000001.10:g.65335018A>G	VUS	1 lab	89a504214c
11:108202715 ATM G>A	11	108202715	108202715	G	A	ATM	c.7739G>A	NM_000051.4	NP_000042.3:p.(Arg2580Lys)	NC_000011.9:g.108202715G>A	VUS	1 lab	89adb9870b
6:7566715 DSP G>T	6	7566715	7566715	G	T	DSP	c.1044+1G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566715G>T	(Likely) pathogenic	1 lab	89b068c9c8
17:7592174 WRAP53 G>T	17	7592174	7592174	G	T	WRAP53	c.208G>T	NM_018081.2	NP_060551.2:p.(Gly70Trp)	NC_000017.10:g.7592174G>T	VUS	1 lab	89b3742a24
8:15978063 MSR1 C>T	8	15978063	15978063	C	T	MSR1	c.1086G>A	NM_138715.3	NP_619729.1:p.(Arg362=)	NC_000008.10:g.15978063C>T	(Likely) benign	1 lab	89b3c501c7
1:39835843 MACF1 G>T	1	39835843	39835843	G	T	MACF1	c.6894G>T	NM_012090.5	NP_036222.3:p.(Gln2298His)	NC_000001.10:g.39835843G>T	(Likely) benign	1 lab	89b3f97e4c
19:48922520 GRIN2D A>G	19	48922520	48922520	A	G	GRIN2D	c.1765A>G	NM_000836.4	NP_000827.2:p.(Met589Val)	NC_000019.9:g.48922520A>G	VUS	1 lab	89b79ad8a2
2:179511786 TTN TATA>T	2	179511786	179511789	TATA	T	TTN	c.40222+2_40222+4del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511787_179511789del	(Likely) benign	1 lab	89ba1270dd
17:42289020 UBTF AGCTTCCACTGCTGGCT>A	17	42289020	42289038	AGCTTCCACTGCTGGCT	A	UBTF	c.985_1000del	NM_014233.4	NP_055048.1:p.(Ser329CysfsTer47)	NC_000017.10:g.42289023_42289038del	VUS	1 lab	89e143ae8b
12:52844309 KRT6B C>T	12	52844309	52844309	C	T	KRT6B	c.636G>A	NM_005555.4	NP_005546.2:p.(Pro212=)	NC_000012.11:g.52844309C>T	(Likely) benign	1 lab	89c1bc9123
19:36223221 KMT2B C>T	19	36223221	36223221	C	T	KMT2B	c.5771C>T	NM_014727.3	NP_055542.1:p.(Pro1924Leu)	NC_000019.9:g.36223221C>T	VUS	1 lab	89cd66dd43
19:615946 HCN2 CCCGCCGCCG>C	19	615946	615968	CCCGCCGCCG	C	HCN2	c.2156_2164del	NM_001194.4	NP_001185.3:p.(Pro719_Pro721del)	NC_000019.9:g.615960_615968del	(Likely) benign	1 lab	89ce9a389d
2:215851246 ABCA12 A>G	2	215851246	215851246	A	G	ABCA12	c.4163+20T>C	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215851246A>G	(Likely) benign	1 lab	89cfab27ce
2:54826301 SPTBN1 G>A	2	54826301	54826301	G	A	SPTBN1	c.221G>A	NM_003128.3	NP_003119.2:p.(Arg74Gln)	NC_000002.11:g.54826301G>A	VUS	1 lab	89cff45e07
1:27102089 ARID1A T>G	1	27102089	27102089	T	G	ARID1A	c.5015T>G	NM_006015.6	NP_006006.3:p.(Val1672Gly)	NC_000001.10:g.27102089T>G	VUS	1 lab	89d226a16d
1:100340911 AGL C>G	1	100340911	100340911	C	G	AGL	c.1186-3C>G	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100340911C>G	(Likely) pathogenic	1 lab	89dba1e668
5:155771498 SGCD G>A	5	155771498	155771498	G	A	SGCD	c.4-1G>A	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.155771498G>A	VUS	1 lab	89def3f620
3:4562715 ITPR1 G>A	3	4562715	4562715	G	A	ITPR1	c.100G>A	NM_001168272.2	NP_001161744.1:p.(Asp34Asn)	NC_000003.11:g.4562715G>A	(Likely) pathogenic	1 lab	89e4c3cad8
2:163134083 IFIH1 A>G	2	163134083	163134083	A	G	IFIH1	c.1886T>C	NM_022168.4	NP_071451.2:p.(Phe629Ser)	NC_000002.11:g.163134083A>G	VUS	1 lab	89e5d75d29
14:32142544 NUBPL A>AT	14	32142544	32142556	A	AT	NUBPL	c.383-5dup	NM_025152.3	NP_079428.2:p.?	NC_000014.8:g.32142556dup	(Likely) benign	1 lab	89e5e5d4c3
15:89876827 POLG TTGCTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGCTGC	T	POLG	c.144_158del	NM_002693.3	NP_002684.1:p.(Gln51_Gln55del)	NC_000015.9:g.89876846_89876860del	(Likely) benign	1 lab	89e7972b3b
6:111696203 REV3L T>C	6	111696203	111696203	T	C	REV3L	c.3121A>G	NM_001286431.2	NP_001273360.1:p.(Ser1041Gly)	NC_000006.11:g.111696203T>C	VUS	1 lab	89ea31caa1
17:41244865 BRCA1 GTTTC>G	17	41244865	41244872	GTTTC	G	BRCA1	c.2679_2682del	NM_007294.4	NP_009225.1:p.(Lys893AsnfsTer106)	NC_000017.10:g.41244869_41244872del	(Likely) pathogenic	1 lab	89ef4a476a
1:155447994 ASH1L C>T	1	155447994	155447994	C	T	ASH1L	c.4667G>A	NM_018489.3	NP_060959.2:p.(Trp1556Ter)	NC_000001.10:g.155447994C>T	VUS	1 lab	89f4822bfa
2:84921479 DNAH6 A>G	2	84921479	84921479	A	G	DNAH6	c.7399A>G	NM_001370.2	NP_001361.1:p.(Lys2467Glu)	NC_000002.11:g.84921479A>G	VUS	1 lab	89f57189c6
15:43545056 TGM5 A>G	15	43545056	43545056	A	G	TGM5	c.763T>C	NM_201631.4	NP_963925.2:p.(Trp255Arg)	NC_000015.9:g.43545056A>G	(Likely) pathogenic	1 lab	89f91e17d4
19:48945063 GRIN2D A>G	19	48945063	48945063	A	G	GRIN2D	c.2290A>G	NM_000836.4	NP_000827.2:p.(Asn764Asp)	NC_000019.9:g.48945063A>G	VUS	1 lab	89f9daf49f
18:31325525 ASXL3 A>G	18	31325525	31325525	A	G	ASXL3	c.5713A>G	NM_030632.3	NP_085135.1:p.(Ser1905Gly)	NC_000018.9:g.31325525A>G	(Likely) benign	1 lab	89fcac5982
10:101601757 ABCC2 C>A	10	101601757	101601757	C	A	ABCC2	c.3648C>A	NM_000392.5	NP_000383.2:p.(Asn1216Lys)	NC_000010.10:g.101601757C>A	VUS	1 lab	8a05bb4b9c
7:116339565 MET C>T	7	116339565	116339565	C	T	MET	c.427C>T	NM_001127500.3	NP_001120972.1:p.(Arg143Ter)	NC_000007.13:g.116339565C>T	VUS	1 lab	8a0a007f33
22:24720324 SPECC1L A>G	22	24720324	24720324	A	G	SPECC1L	c.2075A>G	NM_015330.6	NP_056145.5:p.(Glu692Gly)	NC_000022.10:g.24720324A>G	VUS	1 lab	8a0b1212a8
12:116418611 MED13L A>G	12	116418611	116418611	A	G	MED13L	c.5308T>C	NM_015335.5	NP_056150.1:p.(Ser1770Pro)	NC_000012.11:g.116418611A>G	(Likely) benign	1 lab	8a0b43ecda
17:57743564 CLTC C>T	17	57743564	57743564	C	T	CLTC	c.1757C>T	NM_001288653.2	NP_001275582.1:p.(Thr586Met)	NC_000017.10:g.57743564C>T	VUS	1 lab	8a0e4223c6
17:48269426 COL1A1 C>T	17	48269426	48269426	C	T	COL1A1	c.1984-41G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269426C>T	(Likely) benign	1 lab	8a11699621
22:21344805 LZTR1 AG>A	22	21344805	21344807	AG	A	LZTR1	c.784del	NM_006767.4	NP_006758.2:p.(Asp262ThrfsTer89)	NC_000022.10:g.21344807del	(Likely) pathogenic	1 lab	8a12d0f44a
11:108381605 EXPH5 T>C	11	108381605	108381605	T	C	EXPH5	c.4629A>G	NM_015065.3	NP_055880.2:p.(Arg1543=)	NC_000011.9:g.108381605T>C	(Likely) benign	1 lab	8a147be5fe
19:46056935 OPA3 A>G	19	46056935	46056935	A	G	OPA3	c.377T>C	NM_025136.4	NP_079412.1:p.(Val126Ala)	NC_000019.9:g.46056935A>G	VUS	1 lab	8a19403575
14:51192659 NIN G>A	14	51192659	51192659	G	A	NIN	c.6204C>T	NM_182946.2	NP_891991.2:p.(Pro2068=)	NC_000014.8:g.51192659G>A	(Likely) benign	1 lab	8a1bef678f
11:108224604 ATM G>A	11	108224604	108224604	G	A	ATM	c.8783G>A	NM_000051.4	NP_000042.3:p.(Arg2928Lys)	NC_000011.9:g.108224604G>A	VUS	1 lab	8a1d7093b3
1:196295914 KCNT2 C>G	1	196295914	196295914	C	G	KCNT2	c.2209G>C	NM_198503.5	NP_940905.2:p.(Val737Leu)	NC_000001.10:g.196295914C>G	(Likely) benign	1 lab	8a22b06444
12:52942001 KRT71 G>A	12	52942001	52942001	G	A	KRT71	c.913C>T	NM_033448.3	NP_258259.1:p.(Arg305Cys)	NC_000012.11:g.52942001G>A	(Likely) benign	1 lab	8a26285ce8
9:123298800 CDK5RAP2 A>T	9	123298800	123298800	A	T	CDK5RAP2	c.512T>A	NM_018249.6	NP_060719.4:p.(Val171Glu)	NC_000009.11:g.123298800A>T	VUS	1 lab	8a47c9f569
17:11809009 DNAH9 T>A	17	11809009	11809009	T	A	DNAH9	c.11632T>A	NM_001372.4	NP_001363.2:p.(Tyr3878Asn)	NC_000017.10:g.11809009T>A	VUS	1 lab	8a29137bbe
17:27067956 NEK8 C>G	17	27067956	27067956	C	G	NEK8	c.1685C>G	NM_178170.3	NP_835464.1:p.(Pro562Arg)	NC_000017.10:g.27067956C>G	VUS	1 lab	8a310866ed
22:41551039 EP300 T>A	22	41551039	41551039	T	A	EP300	c.3183T>A	NM_001429.4	NP_001420.2:p.(Thr1061=)	NC_000022.10:g.41551039T>A	(Likely) benign	1 lab	8a313cf7ab
8:134125802 TG C>T	8	134125802	134125802	C	T	TG	c.7709C>T	NM_003235.5	NP_003226.4:p.(Thr2570Met)	NC_000008.10:g.134125802C>T	VUS	1 lab	8a3c3070f2
1:237732538 RYR2 A>G	1	237732538	237732538	A	G	RYR2	c.3517A>G	NM_001035.3	NP_001026.2:p.(Met1173Val)	NC_000001.10:g.237732538A>G	VUS	1 lab	8a3dbcc15b
3:123166756 ADCY5 G>A	3	123166756	123166756	G	A	ADCY5	c.637C>T	NM_183357.3	NP_899200.1:p.(Leu213=)	NC_000003.11:g.123166756G>A	(Likely) benign	1 lab	8a41969375
2:179399382 TTN T>G	2	179399382	179399382	T	G	TTN	c.101960A>C	NM_001267550.2	NP_001254479.2:p.(His33987Pro)	NC_000002.11:g.179399382T>G	VUS	1 lab	8a433ebcab
13:78477674 EDNRB A>G	13	78477674	78477674	A	G	EDNRB	c.822=	NM_001201397.1	NP_001188326.1:p.(Ser274=)	NC_000013.10:g.78477674A>G	(Likely) benign	1 lab	8a4a9fc62f
2:179468806 TTN A>G	2	179468806	179468806	A	G	TTN	c.54608T>C	NM_001267550.2	NP_001254479.2:p.(Leu18203Pro)	NC_000002.11:g.179468806A>G	VUS	1 lab	8a4b4f9e46
12:21995247 ABCC9 C>G	12	21995247	21995247	C	G	ABCC9	c.3473+1G>C	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.21995247C>G	(Likely) pathogenic	1 lab	8a4ec21189
18:32455224 DTNA C>T	18	32455224	32455224	C	T	DTNA	c.1525C>T	NM_001198939.2	NP_001185868.1:p.(Arg509Cys)	NC_000018.9:g.32455224C>T	VUS	1 lab	8a525ce555
12:110765796 ATP2A2 ACAACAAACCAGAT>A	12	110765796	110765809	ACAACAAACCAGAT	A	ATP2A2	c.1070_1082del	NM_001681.4	NP_001672.1:p.(Thr357SerfsTer24)	NC_000012.11:g.110765797_110765809del	(Likely) pathogenic	1 lab	8a54d15757
16:3778942 CREBBP G>A	16	3778942	3778942	G	A	CREBBP	c.6106C>T	NM_004380.3	NP_004371.2:p.(Pro2036Ser)	NC_000016.9:g.3778942G>A	VUS	1 lab	8a5715eb92
5:147503508 SPINK5 T>C	5	147503508	147503508	T	C	SPINK5	c.2651T>C	NM_006846.4	NP_006837.2:p.(Met884Thr)	NC_000005.9:g.147503508T>C	VUS	1 lab	8a580fb54f
11:47359311 MYBPC3 G>T	11	47359311	47359311	G	T	MYBPC3	c.2343C>A	NM_000256.3	NP_000247.2:p.(Ser781Arg)	NC_000011.9:g.47359311G>T	VUS	1 lab	8a5a8074e6
12:14772172 GUCY2C C>T	12	14772172	14772172	C	T	GUCY2C	c.2848G>A	NM_004963.4	NP_004954.2:p.(Ala950Thr)	NC_000012.11:g.14772172C>T	VUS	1 lab	8a60557c77
11:78176966 NARS2 T>G	11	78176966	78176966	T	G	NARS2	c.1120A>C	NM_024678.6	NP_078954.4:p.(Lys374Gln)	NC_000011.9:g.78176966T>G	(Likely) pathogenic	1 lab	8a60dc6c2e
3:196199204 RNF168 G>T	3	196199204	196199204	G	T	RNF168	c.1202C>A	NM_152617.4	NP_689830.2:p.(Pro401Gln)	NC_000003.11:g.196199204G>T	(Likely) benign	1 lab	8a65164762
16:2812304 SRRM2 G>A	16	2812304	2812304	G	A	SRRM2	c.1775G>A	NM_016333.4	NP_057417.3:p.(Arg592Gln)	NC_000016.9:g.2812304G>A	VUS	1 lab	8a6677ac92
18:55676954 MISSING 55770696>DEL	18	55676954	55770696	55770696	DEL	MISSING				NC_000018.9:g.55676954_55770696del	VUS	1 lab	8a772f3f91
7:151884446 KMT2C G>C	7	151884446	151884446	G	C	KMT2C	c.4909C>G	NM_170606.3	NP_733751.2:p.(Leu1637Val)	NC_000007.13:g.151884446G>C	VUS	1 lab	8a79cf15b6
19:17759454 UNC13A G>C	19	17759454	17759454	G	C	UNC13A	c.1602C>G	NM_001080421.3	NP_001073890.2:p.(Asn534Lys)	NC_000019.9:g.17759454G>C	VUS	1 lab	8a7b318ae3
8:144994583 PLEC C>T	8	144994583	144994583	C	T	PLEC	c.9487G>A	NM_000445.5	NP_000436.2:p.(Ala3163Thr)	NC_000008.10:g.144994583C>T	VUS	1 lab	8a7e66a975
17:26087206 NOS2 TGCA>T	17	26087206	26087210	TGCA	T	NOS2	c.3011-5_3011-3del	NM_000625.4	NP_000616.3:p.?	NC_000017.10:g.26087208_26087210del	VUS	1 lab	8a82ceb519
17:39919338 JUP C>T	17	39919338	39919338	C	T	JUP	c.1394G>A	NM_002230.4	NP_002221.1:p.(Arg465His)	NC_000017.10:g.39919338C>T	VUS	1 lab	8a86610bd9
X:47487912 CFP T>TG	X	47487912	47487913	T	TG	CFP	c.228-237dup	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47487913dup	(Likely) benign	1 lab	8a86fa2911
19:11224322 LDLR G>T	19	11224322	11224322	G	T	LDLR	c.1470G>T	NM_000527.5	NP_000518.1:p.(Trp490Cys)	NC_000019.9:g.11224322G>T	VUS	1 lab	8a8acac7b2
19:46278297 DMPK G>A	19	46278297	46278297	G	A	DMPK	c.1177-5C>T	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46278297G>A	(Likely) benign	1 lab	8a8b4e8c7d
2:128030518 ERCC3 T>C	2	128030518	128030518	T	C	ERCC3	c.1750A>G	NM_000122.2	NP_000113.1:p.(Thr584Ala)	NC_000002.11:g.128030518T>C	VUS	1 lab	8a8c3f5a1a
19:38943629 RYR1 A>ACCGCCAGAGCCT	19	38943629	38943642	A	ACCGCCAGAGCCT	RYR1	c.1417_1428dup	NM_000540.3	NP_000531.2:p.(Arg473_Leu476dup)	NC_000019.9:g.38943631_38943642dup	VUS	1 lab	8a900dec5e
11:62291022 AHNAK C>T	11	62291022	62291022	C	T	AHNAK	c.10867G>A	NM_001620.3	NP_001611.1:p.(Asp3623Asn)	NC_000011.9:g.62291022C>T	VUS	1 lab	8a93a684c9
19:3982238 EEF2 G>C	19	3982238	3982238	G	C	EEF2	c.791+6C>G	NM_001961.4	NP_001952.1:p.?	NC_000019.9:g.3982238G>C	(Likely) benign	1 lab	8a96b102e9
17:10555602 MYH3 G>A	17	10555602	10555602	G	A	MYH3	c.348+135C>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10555602G>A	(Likely) benign	1 lab	8a9909e70f
4:13545792 NKX3-2 G>T	4	13545792	13545792	G	T	NKX3-2	c.247C>A	NM_001189.4	NP_001180.1:p.(Arg83=)	NC_000004.11:g.13545792G>T	(Likely) benign	1 lab	8a9d39223c
3:37067441 MLH1 CA>C	3	37067441	37067443	CA	C	MLH1	c.1354del	NM_000249.4	NP_000240.1:p.(Thr452GlnfsTer39)	NC_000003.11:g.37067443del	(Likely) pathogenic	1 lab	8aa44e7776
9:138645777 KCNT1 C>T	9	138645777	138645777	C	T	KCNT1	c.435-6C>T	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138645777C>T	(Likely) benign	1 lab	8aa609cec3
14:91779618 CCDC88C C>T	14	91779618	91779618	C	T	CCDC88C	c.2542G>A	NM_001080414.4	NP_001073883.2:p.(Val848Met)	NC_000014.8:g.91779618C>T	VUS	1 lab	8aa671a34e
17:4646709 ZMYND15 ACC>A	17	4646709	4646714	ACC	A	ZMYND15	c.1260_1261del	NM_001136046.3	NP_001129518.1:p.(Gly422GlnfsTer79)	NC_000017.10:g.4646713_4646714del	VUS	1 lab	8aaba9ef7c
16:2809656 SRRM2 G>A	16	2809656	2809656	G	A	SRRM2	c.827G>A	NM_016333.4	NP_057417.3:p.(Arg276His)	NC_000016.9:g.2809656G>A	VUS	1 lab	8aac2ab2c2
18:52899756 TCF4 TAATTG>T	18	52899756	52899762	TAATTG	T	TCF4	c.1628_1632del	NM_001083962.2	NP_001077431.1:p.(Ser543TyrfsTer2)	NC_000018.9:g.52899758_52899762del	(Likely) pathogenic	1 lab	8aae3489d2
9:98231267 PTCH1 C>T	9	98231267	98231267	C	T	PTCH1	c.2016G>A	NM_000264.5	NP_000255.2:p.(Thr672=)	NC_000009.11:g.98231267C>T	(Likely) benign	1 lab	8ab47f3251
16:9984868 GRIN2A A>G	16	9984868	9984868	A	G	GRIN2A	c.1097T>C	NM_001134407.3	NP_001127879.1:p.(Leu366Pro)	NC_000016.9:g.9984868A>G	(Likely) pathogenic	1 lab	8ab7daaa61
16:2816744 SRRM2 C>T	16	2816744	2816744	C	T	SRRM2	c.6215C>T	NM_016333.4	NP_057417.3:p.(Pro2072Leu)	NC_000016.9:g.2816744C>T	VUS	1 lab	8abd9f27b0
2:179583484 TTN T>C	2	179583484	179583484	T	C	TTN	c.24443A>G	NM_001267550.2	NP_001254479.2:p.(Tyr8148Cys)	NC_000002.11:g.179583484T>C	VUS	1 lab	8abe8ea166
19:45409787 APOE G>A	19	45409787	45409787	G	A	APOE	c.-23-72G>A	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45409787G>A	(Likely) benign	1 lab	8ac121d6d3
1:204518499 MDM4 C>A	1	204518499	204518499	C	A	MDM4	c.1162C>A	NM_002393.5	NP_002384.2:p.(Pro388Thr)	NC_000001.10:g.204518499C>A	VUS	1 lab	8ac6412912
X:152991616 ABCD1 C>T	X	152991616	152991616	C	T	ABCD1	c.895C>T	NM_000033.4	NP_000024.2:p.(His299Tyr)	NC_000023.10:g.152991616C>T	(Likely) benign	1 lab	8ac6e8e03b
8:6357416 ANGPT2 C>T	8	6357416	6357416	C	T	ANGPT2	c.*3206G>A	NM_001118887.2	NP_001112359.1:p.?	NC_000008.10:g.6357416C>T	VUS	1 lab	a288d2135b
7:6066574 EIF2AK1 C>G	7	6066574	6066574	C	G	EIF2AK1	c.1549G>C	NM_014413.4	NP_055228.2:p.(Gly517Arg)	NC_000007.13:g.6066574C>G	VUS	1 lab	8acd1457c5
1:74716430 TNNI3K G>A	1	74716430	74716430	G	A	TNNI3K	c.310G>A	NM_015978.3	NP_057062.1:p.(Ala104Thr)	NC_000001.10:g.74716430G>A	VUS	1 lab	8ad4b2c24d
17:7577106 TP53 G>C	17	7577106	7577106	G	C	TP53	c.832C>G	NM_001126114.3	NP_001119586.1:p.(Pro278Ala)	NC_000017.10:g.7577106G>C	(Likely) pathogenic	1 lab	8ad4c65776
3:11064070 SLC6A1 CCGCTGGCCACTGGCCATCA>C	3	11064070	11064098	CCGCTGGCCACTGGCCATCA	C	SLC6A1	c.640_658del	NM_003042.4	NP_003033.3:p.(Leu214SerfsTer32)	NC_000003.11:g.11064080_11064098del	VUS	1 lab	8ad543ac91
21:28304349 ADAMTS5 C>T	21	28304349	28304349	C	T	ADAMTS5	c.2023G>A	NM_007038.5	NP_008969.2:p.(Gly675Ser)	NC_000021.8:g.28304349C>T	VUS	1 lab	8ae55672f4
2:179481516 TTN T>TATAA	2	179481516	179481522	T	TATAA	TTN	c.48096_48099dup	NM_001267550.2	NP_001254479.2:p.(Thr16034LeufsTer17)	NC_000002.11:g.179481519_179481522dup	(Likely) pathogenic	1 lab	8ae71fade6
17:39727735 KRT9 C>T	17	39727735	39727735	C	T	KRT9	c.510G>A	NM_000226.4	NP_000217.2:p.(Lys170=)	NC_000017.10:g.39727735C>T	(Likely) benign	1 lab	8aeab18bce
15:41797422 LTK T>G	15	41797422	41797422	T	G	LTK	c.1909A>C	NM_002344.6	NP_002335.2:p.(Asn637His)	NC_000015.9:g.41797422T>G	VUS	1 lab	8aed54e1b1
9:130984579 DNM1 G>A	9	130984579	130984579	G	A	DNM1	c.953G>A	NM_004408.4	NP_004399.2:p.(Arg318His)	NC_000009.11:g.130984579G>A	VUS	1 lab	8af0a1591b
12:48370928 COL2A1 C>G	12	48370928	48370928	C	G	COL2A1	c.3284G>C	NM_001844.5	NP_001835.3:p.(Gly1095Ala)	NC_000012.11:g.48370928C>G	(Likely) pathogenic	1 lab	8af178a984
16:2816762 SRRM2 G>C	16	2816762	2816762	G	C	SRRM2	c.6233G>C	NM_016333.4	NP_057417.3:p.(Arg2078Pro)	NC_000016.9:g.2816762G>C	VUS	1 lab	8af36b3684
3:10081545 FANCD2 G>C	3	10081545	10081545	G	C	FANCD2	c.695+16G>C	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10081545G>C	(Likely) benign	1 lab	8af911200a
15:43821328 MAP1A C>T	15	43821328	43821328	C	T	MAP1A	c.7657C>T	NM_002373.6	NP_002364.5:p.(His2553Tyr)	NC_000015.9:g.43821328C>T	VUS	1 lab	8afb357d22
6:143792675 PEX3 T>C	6	143792675	143792675	T	C	PEX3	c.524-19T>C	NM_003630.3	NP_003621.1:p.?	NC_000006.11:g.143792675T>C	(Likely) benign	1 lab	8afcddaf25
15:49030669 CEP152 G>A	15	49030669	49030669	G	A	CEP152	c.4742C>T	NM_014985.4	NP_055800.2:p.(Thr1581Ile)	NC_000015.9:g.49030669G>A	VUS	1 lab	8afd13979b
16:89345889 ANKRD11 G>T	16	89345889	89345889	G	T	ANKRD11	c.7061C>A	NM_001256182.2	NP_001243111.1:p.(Pro2354His)	NC_000016.9:g.89345889G>T	(Likely) benign	1 lab	8affa6a62b
17:78264405 RNF213 C>G	17	78264405	78264405	C	G	RNF213	c.1149C>G	NM_001256071.3	NP_001243000.2:p.(Phe383Leu)	NC_000017.10:g.78264405C>G	VUS	1 lab	8b0254f6c9
12:110765691 ATP2A2 G>C	12	110765691	110765691	G	C	ATP2A2	c.964G>C	NM_170665.4	NP_733765.1:p.(Gly322Arg)	NC_000012.11:g.110765691G>C	VUS	1 lab	8b026ae7fb
16:71772912 AP1G1 G>A	16	71772912	71772912	G	A	AP1G1	c.2210C>T	NM_001030007.2	NP_001025178.1:p.(Thr737Met)	NC_000016.9:g.71772912G>A	(Likely) benign	1 lab	8b0750a81a
2:166897799 SCN1A GC>G	2	166897799	166897801	GC	G	SCN1A	c.2356del	NM_001165963.4	NP_001159435.1:p.(Ala786ProfsTer7)	NC_000002.11:g.166897801del	(Likely) pathogenic	1 lab	8b08016498
2:179426534 TTN C>G	2	179426534	179426534	C	G	TTN	c.84325G>C	NM_001267550.2	NP_001254479.2:p.(Val28109Leu)	NC_000002.11:g.179426534C>G	VUS	1 lab	8b0d2fe962
5:137894331 HSPA9 C>T	5	137894331	137894331	C	T	HSPA9	c.1426G>A	NM_004134.7	NP_004125.3:p.(Ala476Thr)	NC_000005.9:g.137894331C>T	VUS	1 lab	8b14c1fa93
1:216138751 USH2A C>T	1	216138751	216138751	C	T	USH2A	c.7028G>A	NM_206933.4	NP_996816.3:p.(Arg2343Gln)	NC_000001.10:g.216138751C>T	VUS	1 lab	8b15cd124a
13:32915112 BRCA2 CA>C	13	32915112	32915115	CA	C	BRCA2	c.6623del	NM_000059.4	NP_000050.3:p.(Asn2208IlefsTer2)	NC_000013.10:g.32915115del	(Likely) pathogenic	1 lab	8b16d30ac7
2:166897749 SCN1A C>T	2	166897749	166897749	C	T	SCN1A	c.2407G>A	NM_001202435.3	NP_001189364.1:p.(Gly803Arg)	NC_000002.11:g.166897749C>T	(Likely) pathogenic	1 lab	8b1e8424c5
14:59105188 DACT1 C>T	14	59105188	59105188	C	T	DACT1	c.268C>T	NM_016651.6	NP_057735.2:p.(Leu90=)	NC_000014.8:g.59105188C>T	(Likely) benign	1 lab	8b1f20e077
2:166903344 SCN1A T>C	2	166903344	166903344	T	C	SCN1A	c.1313A>G	NM_001165963.4	NP_001159435.1:p.(Glu438Gly)	NC_000002.11:g.166903344T>C	VUS	1 lab	8b20e05ffe
X:132458207 GPC4 G>A	X	132458207	132458207	G	A	GPC4	c.677C>T	NM_001448.3	NP_001439.2:p.(Ala226Val)	NC_000023.10:g.132458207G>A	VUS	1 lab	8b21a8f5b5
1:237868517 RYR2 C>T	1	237868517	237868517	C	T	RYR2	c.9454C>T	NM_001035.3	NP_001026.2:p.(Arg3152Cys)	NC_000001.10:g.237868517C>T	VUS	1 lab	8b2208a919
5:42646448 GHR T>A	5	42646448	42646448	T	A	GHR	c.136+17243T>A	NM_001242400.2	NP_001229329.1:p.?	NC_000005.9:g.42646448T>A	(Likely) benign	1 lab	8b22136081
19:36227872 KMT2B C>CGTCT	19	36227872	36227873	C	CGTCT	KMT2B	c.7357_7358insGTCT	NM_014727.3	NP_055542.1:p.(His2453ArgfsTer6)	NC_000019.9:g.36227872_36227873insGTCT	(Likely) pathogenic	1 lab	8b236d30fa
1:5927827 NPHP4 G>A	1	5927827	5927827	G	A	NPHP4	c.3445C>T	NM_015102.5	NP_055917.1:p.(Arg1149Cys)	NC_000001.10:g.5927827G>A	VUS	1 lab	8b30d38656
5:36985632 NIPBL C>T	5	36985632	36985632	C	T	NIPBL	c.2350C>T	NM_133433.4	NP_597677.2:p.(Gln784Ter)	NC_000005.9:g.36985632C>T	(Likely) pathogenic	1 lab	8b35b8b9c2
15:85360180 ALPK3 C>T	15	85360180	85360180	C	T	ALPK3				NC_000015.9:g.85360180C>T	VUS	1 lab	8b35fa0a42
18:34310768 FHOD3 G>T	18	34310768	34310768	G	T	FHOD3	c.3051+1G>T	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34310768G>T	VUS	1 lab	8b363e23d5
15:55790426 DNAAF4 G>A	15	55790426	55790426	G	A	DNAAF4	c.102C>T	NM_130810.4	NP_570722.2:p.(Phe34=)	NC_000015.9:g.55790426G>A	(Likely) benign	1 lab	8b39100f79
18:43437927 EPG5 G>A	18	43437927	43437927	G	A	EPG5	c.7333C>T	NM_020964.3	NP_066015.2:p.(Arg2445Ter)	NC_000018.9:g.43437927G>A	(Likely) pathogenic	1 lab	8b3b7e371e
18:28913599 DSG1 C>T	18	28913599	28913599	C	T	DSG1	c.732C>T	NM_001942.4	NP_001933.2:p.(Gly244=)	NC_000018.9:g.28913599C>T	(Likely) benign	1 lab	8b427d0c88
20:44520292 CTSA G>T	20	44520292	44520292	G	T	CTSA	c.85G>T	NM_001127695.2	NP_001121167.1:p.(Ala29Ser)	NC_000020.10:g.44520292G>T	VUS	1 lab	8b4519b2aa
2:240961728 NDUFA10 T>C	2	240961728	240961728	T	C	NDUFA10	c.105A>G	NM_004544.4	NP_004535.1:p.(Lys35=)	NC_000002.11:g.240961728T>C	(Likely) benign	1 lab	8b46a004c4
17:39925422 JUP A>G	17	39925422	39925422	A	G	JUP	c.506T>C	NM_002230.4	NP_002221.1:p.(Leu169Pro)	NC_000017.10:g.39925422A>G	VUS	1 lab	8b47b56f49
20:23375799 NAPB C>A	20	23375799	23375799	C	A	NAPB	c.331G>T	NM_001283018.2	NP_001269947.1:p.(Ala111Ser)	NC_000020.10:g.23375799C>A	VUS	1 lab	8b4b92988b
15:66782067 MAP2K1 A>C	15	66782067	66782067	A	C	MAP2K1	c.1034A>C	NM_002755.4	NP_002746.1:p.(Asn345Thr)	NC_000015.9:g.66782067A>C	VUS	1 lab	8b4c388cdf
18:47431142 MYO5B C>T	18	47431142	47431142	C	T	MYO5B	c.2471G>A	NM_001080467.3	NP_001073936.1:p.(Arg824His)	NC_000018.9:g.47431142C>T	VUS	1 lab	8b4d696f99
17:39658639 KRT13 C>T	17	39658639	39658639	C	T	KRT13	c.1231G>A	NM_002274.4	NP_002265.3:p.(Gly411Ser)	NC_000017.10:g.39658639C>T	VUS	1 lab	8b5441204a
20:23029931 THBD T>A	20	23029931	23029931	T	A	THBD	c.211A>T	NM_000361.3	NP_000352.1:p.(Ile71Phe)	NC_000020.10:g.23029931T>A	(Likely) benign	1 lab	8b54fdd940
16:31012442 STX1B T>C	16	31012442	31012442	T	C	STX1B	c.178A>G	NM_052874.5	NP_443106.1:p.(Ile60Val)	NC_000016.9:g.31012442T>C	VUS	1 lab	8b563a6804
19:42795804 CIC G>A	19	42795804	42795804	G	A	CIC	c.2793G>A	NM_015125.5	NP_055940.3:p.(Met931Ile)	NC_000019.9:g.42795804G>A	VUS	1 lab	8b5ea39e64
3:136002776 PCCB C>T	3	136002776	136002776	C	T	PCCB	c.641C>T	NM_000532.5	NP_000523.2:p.(Thr214Met)	NC_000003.11:g.136002776C>T	VUS	1 lab	8b61a97fbd
11:108216524 ATM C>T	11	108216524	108216524	C	T	ATM	c.8473C>T	NM_000051.4	NP_000042.3:p.(Gln2825Ter)	NC_000011.9:g.108216524C>T	(Likely) pathogenic	1 lab	8b631c0b79
16:89348480 ANKRD11 G>GTCCCTGTGATGCCGCAGCAGCCCA	16	89348480	89348507	G	GTCCCTGTGATGCCGCAGCAGCCCA	ANKRD11	c.4446_4469dup	NM_013275.6	NP_037407.4:p.(Gly1483_Asp1490dup)	NC_000016.9:g.89348484_89348507dup	VUS	1 lab	8b68013fac
6:7580043 DSP G>A	6	7580043	7580043	G	A	DSP	c.3620G>A	NM_004415.4	NP_004406.2:p.(Arg1207Lys)	NC_000006.11:g.7580043G>A	VUS	1 lab	8b687423ef
6:132171177 ENPP1 C>T	6	132171177	132171177	C	T	ENPP1	c.361C>T	NM_006208.3	NP_006199.2:p.(Arg121Cys)	NC_000006.11:g.132171177C>T	VUS	1 lab	8b6c9db072
2:179549078 TTN C>G	2	179549078	179549078	C	G	TTN	c.32701G>C	NM_001267550.2	NP_001254479.2:p.(Glu10901Gln)	NC_000002.11:g.179549078C>G	VUS	1 lab	8b6ca2afbf
9:131453500 SET TAGAC>T	9	131453500	131453506	TAGAC	T	SET	c.167_170del	NM_001122821.2	NP_001116293.1:p.(Arg57LeufsTer10)	NC_000009.11:g.131453503_131453506del	(Likely) pathogenic	1 lab	8b6df7db38
22:19905759 TXNRD2 A>C	22	19905759	19905759	A	C	TXNRD2	c.375-19T>G	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19905759A>C	(Likely) benign	1 lab	8b6ea87fc7
3:151078278 MED12L A>G	3	151078278	151078278	A	G	MED12L	c.2737A>G	NM_053002.5	NP_443728.3:p.(Lys913Glu)	NC_000003.11:g.151078278A>G	VUS	1 lab	8b7c09e97b
X:153589890 FLNA G>A	X	153589890	153589890	G	A	FLNA	c.2993C>T	NM_001456.4	NP_001447.2:p.(Ala998Val)	NC_000023.10:g.153589890G>A	VUS	1 lab	8b8112d51d
7:6026933 PMS2 G>T	7	6026933	6026933	G	T	PMS2	c.1463C>A	NM_000535.7	NP_000526.2:p.(Ala488Glu)	NC_000007.13:g.6026933G>T	(Likely) benign	1 lab	8b812c3f51
20:467035 CSNK2A1 C>T	20	467035	467035	C	T	CSNK2A1	c.1045G>A	NM_001895.4	NP_001886.1:p.(Ala349Thr)	NC_000020.10:g.467035C>T	(Likely) benign	1 lab	8b83f5e1d2
6:17543302 CAP2 A>G	6	17543302	17543302	A	G	CAP2	c.1137A>G	NM_006366.3	NP_006357.1:p.(Lys379=)	NC_000006.11:g.17543302A>G	(Likely) benign	1 lab	8b848d0744
6:157527869 ARID1B CTG>C	6	157527869	157527871	CTG	C	ARID1B	c.5844_5845del	NM_001371656.1	NP_001358585.1:p.(Glu1949ArgfsTer13)	NC_000006.11:g.157527870_157527871del	(Likely) pathogenic	1 lab	8b8c17b408
16:88907485 GALNS T>A	16	88907485	88907485	T	A	GALNS	c.337A>T	NM_000512.5	NP_000503.1:p.(Ile113Phe)	NC_000016.9:g.88907485T>A	(Likely) pathogenic	1 lab	8b8c7986b1
15:85411578 ALPK3 G>A	15	85411578	85411578	G	A	ALPK3	c.5009G>A	NM_020778.5	NP_065829.4:p.(Ser1670Asn)	NC_000015.9:g.85411578G>A	VUS	1 lab	8b8e394975
X:32716012 DMD G>C	X	32716012	32716012	G	C	DMD	c.935C>G	NM_004006.3	NP_003997.2:p.(Pro312Arg)	NC_000023.10:g.32716012G>C	VUS	1 lab	8b95372fdd
14:103406051 CDC42BPB C>G	14	103406051	103406051	C	G	CDC42BPB	c.4723G>C	NM_006035.4	NP_006026.3:p.(Asp1575His)	NC_000014.8:g.103406051C>G	(Likely) benign	1 lab	8b9698c085
2:163136623 IFIH1 C>T	2	163136623	163136623	C	T	IFIH1	c.1525-1G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163136623C>T	VUS	1 lab	8b972f8d10
1:5987835 NPHP4 C>CCACCTGCTT	1	5987835	5987851	C	CCACCTGCTT	NPHP4	c.1306_1314dup	NM_015102.5	NP_055917.1:p.(Lys436_Val438dup)	NC_000001.10:g.5987843_5987851dup	VUS	1 lab	8b97e2e2c5
9:134003748 NUP214 A>G	9	134003748	134003748	A	G	NUP214	c.271A>G	NM_005085.4	NP_005076.3:p.(Met91Val)	NC_000009.11:g.134003748A>G	VUS	1 lab	8b99d7eae2
5:118862861 HSD17B4 ACT>A	5	118862861	118862865	ACT	A	HSD17B4	c.1717_1718del	NM_000414.4	NP_000405.1:p.(Leu573ThrfsTer3)	NC_000005.9:g.118862864_118862865del	(Likely) pathogenic	1 lab	8b9ba72c56
9:101900239 TGFBR1 C>T	9	101900239	101900239	C	T	TGFBR1	c.673C>T	NM_004612.4	NP_004603.1:p.(Arg225Trp)	NC_000009.11:g.101900239C>T	VUS	1 lab	8b9eb3dad6
1:183203563 LAMC2 C>A	1	183203563	183203563	C	A	LAMC2	c.2282C>A	NM_005562.3	NP_005553.2:p.(Ala761Asp)	NC_000001.10:g.183203563C>A	VUS	1 lab	8ba62f9dd7
3:78685118 ROBO1 C>A	3	78685118	78685118	C	A	ROBO1	c.3178G>T	NM_002941.4	NP_002932.1:p.(Asp1060Tyr)	NC_000003.11:g.78685118C>A	VUS	1 lab	8ba88459da
14:64547288 SYNE2 A>G	14	64547288	64547288	A	G	SYNE2	c.11278A>G	NM_182914.3	NP_878918.2:p.(Met3760Val)	NC_000014.8:g.64547288A>G	VUS	1 lab	8baaf9eb73
5:135392426 TGFBI T>C	5	135392426	135392426	T	C	TGFBI	c.1620T>C	NM_000358.3	NP_000349.1:p.(Phe540=)	NC_000005.9:g.135392426T>C	(Likely) benign	1 lab	8baf90aa71
2:26414386 HADHA G>A	2	26414386	26414386	G	A	HADHA	c.2112C>T	NM_000182.5	NP_000173.2:p.(Ala704=)	NC_000002.11:g.26414386G>A	(Likely) benign	1 lab	8bb5ecc009
16:1996721 RPL3L G>A	16	1996721	1996721	G	A	RPL3L	c.856C>T	NM_005061.3	NP_005052.1:p.(Arg286Cys)	NC_000016.9:g.1996721G>A	VUS	1 lab	8bb6f70425
12:52912944 KRT5 C>T	12	52912944	52912944	C	T	KRT5	c.556G>A	NM_000424.4	NP_000415.2:p.(Val186Met)	NC_000012.11:g.52912944C>T	(Likely) pathogenic	1 lab	8bba069512
1:152283811 FLG G>A	1	152283811	152283811	G	A	FLG	c.3551C>T	NM_002016.2	NP_002007.1:p.(Ser1184Leu)	NC_000001.10:g.152283811G>A	(Likely) benign	1 lab	8bba0c45bb
4:55946227 KDR C>A	4	55946227	55946227	C	A	KDR	c.3952G>T	NM_002253.3	NP_002244.1:p.(Val1318Leu)	NC_000004.11:g.55946227C>A	(Likely) benign	1 lab	8bbc6e6bd4
10:68687973 CTNNA3 C>CA	10	68687973	68687974	C	CA	CTNNA3	c.1048-152692dup	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68687974dup	(Likely) benign	1 lab	8bbcc4ca34
1:236894591 ACTN2 T>G	1	236894591	236894591	T	G	ACTN2	c.674T>G	NM_001103.4	NP_001094.1:p.(Ile225Ser)	NC_000001.10:g.236894591T>G	VUS	1 lab	8bbd03cabd
20:2321111 TGM3 C>T	20	2321111	2321111	C	T	TGM3	c.1966C>T	NM_003245.4	NP_003236.3:p.(Arg656Trp)	NC_000020.10:g.2321111C>T	VUS	1 lab	8bc3946024
5:14461389 TRIO C>T	5	14461389	14461389	C	T	TRIO	c.5465C>T	NM_007118.4	NP_009049.2:p.(Ala1822Val)	NC_000005.9:g.14461389C>T	VUS	1 lab	8bc420a8af
7:73254409 METTL27 C>T	7	73254409	73254409	C	T	METTL27	c.430G>A	NM_152559.3	NP_689772.2:p.(Gly144Ser)	NC_000007.13:g.73254409C>T	VUS	1 lab	8bc42ea1b3
1:100346741 AGL T>C	1	100346741	100346741	T	C	AGL	c.2001+8T>C	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100346741T>C	(Likely) benign	1 lab	8bcf9c1b94
6:51483961 PKHD1 T>C	6	51483961	51483961	T	C	PKHD1	c.12143A>G	NM_138694.4	NP_619639.3:p.(Gln4048Arg)	NC_000006.11:g.51483961T>C	(Likely) benign	1 lab	8bd0995695
8:38283707 FGFR1 G>A	8	38283707	38283707	G	A	FGFR1	c.678C>T	NM_023110.3	NP_075598.2:p.(Gly226=)	NC_000008.10:g.38283707G>A	VUS	1 lab	8bd15ff025
4:190878661 FRG1 A>T	4	190878661	190878661	A	T	FRG1	c.537+4A>T	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190878661A>T	(Likely) benign	1 lab	8bd4fd9f1e
3:9775910 BRPF1 G>A	3	9775910	9775910	G	A	BRPF1	c.86G>A	NM_001003694.2	NP_001003694.1:p.(Arg29Gln)	NC_000003.11:g.9775910G>A	VUS	1 lab	8bd6a7a83d
1:7796445 CAMTA1 CCG>C	1	7796445	7796447	CCG	C	CAMTA1	c.3109_3110del	NM_015215.4	NP_056030.1:p.(Arg1037CysfsTer57)	NC_000001.10:g.7796446_7796447del	(Likely) pathogenic	1 lab	8bd8fe3306
14:68260931 ZFYVE26 TG>T	14	68260931	68260934	TG	T	ZFYVE26	c.2357del	NM_015346.4	NP_056161.2:p.(Pro786HisfsTer10)	NC_000014.8:g.68260934del	(Likely) pathogenic	1 lab	8bda610a82
10:3822364 KLF6 T>C	10	3822364	3822364	T	C	KLF6	c.734A>G	NM_001300.6	NP_001291.3:p.(Asp245Gly)	NC_000010.10:g.3822364T>C	VUS	1 lab	8bdb662449
17:15510892 FBXW10B CAGAG>C	17	15510892	15510899	CAGAG	C	FBXW10B	c.1224_1227del	NM_001282540.2	NP_001269469.1:p.(Ser409ThrfsTer16)	NC_000017.10:g.15510896_15510899del	VUS	1 lab	8bde5dd997
10:76735377 KAT6B A>C	10	76735377	76735377	A	C	KAT6B	c.1282A>C	NM_012330.4	NP_036462.2:p.(Asn428His)	NC_000010.10:g.76735377A>C	(Likely) benign	1 lab	8be0e6940d
2:26689647 OTOF C>T	2	26689647	26689647	C	T	OTOF	c.4435G>A	NM_194248.3	NP_919224.1:p.(Gly1479Ser)	NC_000002.11:g.26689647C>T	VUS	1 lab	8be144a6be
9:91956271 SECISBP2 A>T	9	91956271	91956271	A	T	SECISBP2	c.1312A>T	NM_024077.5	NP_076982.3:p.(Lys438Ter)	NC_000009.11:g.91956271A>T	(Likely) pathogenic	1 lab	8be1770c5f
1:173685184 KLHL20 T>C	1	173685184	173685184	T	C	KLHL20				NC_000001.10:g.173685184T>C	VUS	1 lab	8be2d3da75
12:52680929 KRT81 C>G	12	52680929	52680929	C	G	KRT81	c.1204G>C	NM_002281.4	NP_002272.2:p.(Glu402Gln)	NC_000012.11:g.52680929C>G	VUS	1 lab	8be500eb90
21:45947185 TSPEAR A>T	21	45947185	45947185	A	T	TSPEAR	c.1139T>A	NM_144991.3	NP_659428.2:p.(Ile380Asn)	NC_000021.8:g.45947185A>T	VUS	1 lab	8be8f42037
X:18593522 CDKL5 G>A	X	18593522	18593522	G	A	CDKL5	c.194G>A	NM_001323289.2	NP_001310218.1:p.(Arg65Gln)	NC_000023.10:g.18593522G>A	VUS	1 lab	8bf1a58ce9
11:36596718 RAG1 G>A	11	36596718	36596718	G	A	RAG1	c.1864G>A	NM_000448.3	NP_000439.2:p.(Ala622Thr)	NC_000011.9:g.36596718G>A	VUS	1 lab	8bf2208a83
X:24169846 ZFX G>C	X	24169846	24169846	G	C	ZFX	c.-29+1935G>C	NM_001178084.2	NP_001171555.1:p.?	NC_000023.10:g.24169846G>C	(Likely) benign	1 lab	8bf6648a8a
1:74801731 TNNI3K A>G	1	74801731	74801731	A	G	TNNI3K	c.580A>G	NM_015978.3	NP_057062.1:p.(Asn194Asp)	NC_000001.10:g.74801731A>G	(Likely) benign	1 lab	8bf938605e
11:64884755 ZNHIT2 G>A	11	64884755	64884755	G	A	ZNHIT2	c.371C>T	NM_014205.4	NP_055020.1:p.(Pro124Leu)	NC_000011.9:g.64884755G>A	VUS	1 lab	8bfbde7565
17:8141548 CTC1 C>T	17	8141548	8141548	C	T	CTC1	c.448G>A	NM_025099.6	NP_079375.3:p.(Asp150Asn)	NC_000017.10:g.8141548C>T	VUS	1 lab	8bfd9f9bac
8:21984945 HR C>T	8	21984945	21984945	C	T	HR	c.1010G>A	NM_005144.5	NP_005135.2:p.(Gly337Asp)	NC_000008.10:g.21984945C>T	(Likely) benign	1 lab	8c0145a726
2:189876418 COL3A1 C>T	2	189876418	189876418	C	T	COL3A1	c.4319C>T	NM_000090.4	NP_000081.2:p.(Pro1440Leu)	NC_000002.11:g.189876418C>T	VUS	1 lab	8c0b0cdd3a
20:30689231 HCK G>A	20	30689231	30689231	G	A	HCK	c.1430G>A	NM_001172132.3	NP_001165603.1:p.(Arg477His)	NC_000020.10:g.30689231G>A	VUS	1 lab	8c0b26fdab
19:4817486 TICAM1 C>G	19	4817486	4817486	C	G	TICAM1	c.904G>C	NM_182919.4	NP_891549.1:p.(Val302Leu)	NC_000019.9:g.4817486C>G	VUS	1 lab	8c0b8f3f7f
1:11249803 MTOR T>C	1	11249803	11249803	T	C	MTOR	c.4253+9512A>G	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11249803T>C	(Likely) benign	1 lab	8c0d3128a6
16:85682217 GSE1 C>G	16	85682217	85682217	C	G	GSE1	c.286C>G	NM_014615.5	NP_055430.1:p.(Pro96Ala)	NC_000016.9:g.85682217C>G	VUS	1 lab	8c0da6e099
X:595424 SHOX C>CAG	X	595424	595428	C	CAG	SHOX	c.352_353dup	NM_000451.3	NP_000442.1:p.(Arg119GlyfsTer12)	NC_000023.10:g.595427_595428dup	(Likely) pathogenic	1 lab	8c0e59a964
22:37260104 NCF4 C>T	22	37260104	37260104	C	T	NCF4	c.50C>T	NM_013416.4	NP_038202.2:p.(Pro17Leu)	NC_000022.10:g.37260104C>T	(Likely) pathogenic	1 lab	8c0ea76b41
11:57575877 CTNND1 C>T	11	57575877	57575877	C	T	CTNND1	c.2107C>T	NM_001085458.2	NP_001078927.1:p.(Arg703Cys)	NC_000011.9:g.57575877C>T	VUS	1 lab	8c0ef6c183
12:53072371 KRT1 G>A	12	53072371	53072371	G	A	KRT1	c.761C>T	NM_006121.4	NP_006112.3:p.(Ser254Leu)	NC_000012.11:g.53072371G>A	VUS	1 lab	8c0f12c790
13:32376342 RXFP2 A>G	13	32376342	32376342	A	G	RXFP2	c.2065A>G	NM_130806.5	NP_570718.1:p.(Ile689Val)	NC_000013.10:g.32376342A>G	VUS	1 lab	8c10feb370
9:136308542 ADAMTS13 C>T	9	136308542	136308542	C	T	ADAMTS13	c.2280=	NM_139025.5	NP_620594.1:p.(Gly760=)	NC_000009.11:g.136308542C>T	(Likely) benign	1 lab	8c16deeaa8
11:47373000 MYBPC3 C>T	11	47373000	47373000	C	T	MYBPC3	c.82G>A	NM_000256.3	NP_000247.2:p.(Val28Met)	NC_000011.9:g.47373000C>T	VUS	1 lab	8c16e0ab5f
7:42018342 GLI3 T>C	7	42018342	42018342	T	C	GLI3	c.1503A>G	NM_000168.6	NP_000159.3:p.(Ile501Met)	NC_000007.13:g.42018342T>C	VUS	1 lab	8c28853770
5:127637199 FBN2 A>G	5	127637199	127637199	A	G	FBN2	c.5921T>C	NM_001999.4	NP_001990.2:p.(Ile1974Thr)	NC_000005.9:g.127637199A>G	VUS	1 lab	8c2b933fc0
12:89993007 ATP2B1 C>T	12	89993007	89993007	C	T	ATP2B1	c.3238G>A	NM_001682.3	NP_001673.2:p.(Glu1080Lys)	NC_000012.11:g.89993007C>T	VUS	1 lab	8c2c72f2dd
13:32907304 BRCA2 G>A	13	32907304	32907304	G	A	BRCA2	c.1689G>A	NM_000059.4	NP_000050.3:p.(Trp563Ter)	NC_000013.10:g.32907304G>A	(Likely) pathogenic	1 lab	8c2f358dd1
4:178359924 AGA C>T	4	178359924	178359924	C	T	AGA	c.482G>A	NM_000027.4	NP_000018.2:p.(Arg161Gln)	NC_000004.11:g.178359924C>T	(Likely) benign	1 lab	8c3266ccc9
17:41209091 BRCA1 G>T	17	41209091	41209091	G	T	BRCA1	c.5255C>A	NM_007294.4	NP_009225.1:p.(Ala1752Glu)	NC_000017.10:g.41209091G>T	(Likely) pathogenic	1 lab	8c3e4a89c7
22:40814839 MRTFA C>T	22	40814839	40814839	C	T	MRTFA	c.1903G>A	NM_020831.6	NP_065882.2:p.(Glu635Lys)	NC_000022.10:g.40814839C>T	VUS	1 lab	8c442de928
2:179411485 TTN A>G	2	179411485	179411485	A	G	TTN	c.94670T>C	NM_001267550.2	NP_001254479.2:p.(Leu31557Pro)	NC_000002.11:g.179411485A>G	VUS	1 lab	8c4a3e66dc
17:41228571 BRCA1 GA>G	17	41228571	41228574	GA	G	BRCA1	c.4417del	NM_007294.4	NP_009225.1:p.(Ser1473LeufsTer32)	NC_000017.10:g.41228574del	(Likely) pathogenic	1 lab	8c4d8b9b42
15:37187376 MEIS2 G>T	15	37187376	37187376	G	T	MEIS2	c.1123C>A	NM_170677.5	NP_733777.1:p.(Gln375Lys)	NC_000015.9:g.37187376G>T	VUS	1 lab	8c50590b37
5:38884071 OSMR T>G	5	38884071	38884071	T	G	OSMR	c.561T>G	NM_003999.3	NP_003990.1:p.(His187Gln)	NC_000005.9:g.38884071T>G	(Likely) benign	1 lab	8c5066f025
17:48267074 COL1A1 C>G	17	48267074	48267074	C	G	COL1A1	c.2633G>C	NM_000088.4	NP_000079.2:p.(Gly878Ala)	NC_000017.10:g.48267074C>G	(Likely) pathogenic	1 lab	8c552b4de7
3:114057902 ZBTB20 G>A	3	114057902	114057902	G	A	ZBTB20	c.2176C>T	NM_001164342.2	NP_001157814.1:p.(Gln726Ter)	NC_000003.11:g.114057902G>A	VUS	1 lab	8c5c89fc86
5:34008124 AMACR T>C	5	34008124	34008124	T	C	AMACR	c.1A>G	NM_014324.6	NP_055139.4:p.(Met1?)	NC_000005.9:g.34008124T>C	VUS	1 lab	8c669f655a
11:118343855 KMT2A G>A	11	118343855	118343855	G	A	KMT2A	c.1981G>A	NM_001197104.2	NP_001184033.1:p.(Val661Ile)	NC_000011.9:g.118343855G>A	VUS	1 lab	8c68e5db63
5:161528280 GABRG2 C>T	5	161528280	161528280	C	T	GABRG2	c.588C>T	NM_198903.2	NP_944493.2:p.(Asn196=)	NC_000005.9:g.161528280C>T	(Likely) benign	1 lab	8c70ed5ece
2:179415859 TTN G>A	2	179415859	179415859	G	A	TTN	c.91399C>T	NM_001267550.2	NP_001254479.2:p.(Arg30467Cys)	NC_000002.11:g.179415859G>A	VUS	1 lab	8c747826a9
2:1946770 MYT1L T>TTCC	2	1946770	1946793	T	TTCC	MYT1L	c.486_488dup	NM_001329851.3	NP_001316780.1:p.(Glu167dup)	NC_000002.11:g.1946791_1946793dup	(Likely) benign	1 lab	8c76dfe9d5
19:2129343 AP3D1 AGTT>A	19	2129343	2129350	AGTT	A	AP3D1	c.703_705del	NM_001261826.3	NP_001248755.1:p.(Asn235del)	NC_000019.9:g.2129348_2129350del	VUS	1 lab	8c78936cec
2:207025444 EEF1B2 T>C	2	207025444	207025444	T	C	EEF1B2	c.203+10T>C	NM_001959.4	NP_001950.1:p.?	NC_000002.11:g.207025444T>C	(Likely) benign	1 lab	8c7f2b7546
11:62384647 B3GAT3 G>A	11	62384647	62384647	G	A	B3GAT3	c.430C>T	NM_001288723.2	NP_001275652.1:p.(Arg144Trp)	NC_000011.9:g.62384647G>A	VUS	1 lab	8c7f625125
1:120572568 NOTCH2 C>T	1	120572568	120572568	C	T	NOTCH2	c.116G>A	NM_024408.4	NP_077719.2:p.(Gly39Glu)	NC_000001.10:g.120572568C>T	VUS	1 lab	8c802b63aa
19:13319610 CACNA1A C>G	19	13319610	13319610	C	G	CACNA1A	c.6743G>C	NM_001127221.2	NP_001120693.1:p.(Arg2248Pro)	NC_000019.9:g.13319610C>G	VUS	1 lab	8c818e3311
18:21437834 LAMA3 A>T	18	21437834	21437834	A	T	LAMA3	c.4163A>T	NM_198129.4	NP_937762.2:p.(Gln1388Leu)	NC_000018.9:g.21437834A>T	VUS	1 lab	8c8537402d
2:55906909 PNPT1 A>G	2	55906909	55906909	A	G	PNPT1	c.587T>C	NM_033109.5	NP_149100.2:p.(Ile196Thr)	NC_000002.11:g.55906909A>G	VUS	1 lab	8c8afeee38
4:6594938 MAN2B2 AG>A	4	6594938	6594939	AG	A	MAN2B2	c.720del	NM_015274.3	NP_056089.1:p.(Lys240AsnfsTer11)	NC_000004.11:g.6594939del	VUS	1 lab	8c8c01b509
16:4934433 PPL C>T	16	4934433	4934433	C	T	PPL	c.4223G>A	NM_002705.5	NP_002696.4:p.(Arg1408His)	NC_000016.9:g.4934433C>T	VUS	1 lab	8c8c372875
20:35533784 SAMHD1 G>T	20	35533784	35533784	G	T	SAMHD1	c.1393C>A	NM_015474.4	NP_056289.2:p.(Gln465Lys)	NC_000020.10:g.35533784G>T	VUS	1 lab	8c94790ccb
10:73121945 SLC29A3 T>C	10	73121945	73121945	T	C	SLC29A3	c.1008T>C	NM_018344.6	NP_060814.4:p.(Gly336=)	NC_000010.10:g.73121945T>C	(Likely) benign	1 lab	8c95065dbc
8:145510762 MISSING 145883262>DUP	8	145510762	145883262	145883262	DUP	MISSING				NC_000008.10:g.145510762_145883262dup	VUS	1 lab	8c99105bd0
1:92728476 GLMN C>G	1	92728476	92728476	C	G	GLMN	c.1417G>C	NM_053274.3	NP_444504.1:p.(Ala473Pro)	NC_000001.10:g.92728476C>G	VUS	1 lab	8c9ff1a984
16:2168140 PKD1 C>T	16	2168140	2168140	C	T	PKD1	c.853G>A	NM_001009944.3	NP_001009944.3:p.(Ala285Thr)	NC_000016.9:g.2168140C>T	VUS	1 lab	8ca0a9f9e4
5:79950784 DHFR G>C	5	79950784	79950784	G	C	DHFR	c.-476C>G	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950784G>C	(Likely) pathogenic	1 lab	a4d73ef001
3:10084224 FANCD2 C>T	3	10084224	10084224	C	T	FANCD2	c.784-19C>T	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10084224C>T	(Likely) benign	1 lab	8ca223b49e
13:111368316 ING1 C>T	13	111368316	111368316	C	T	ING1	c.526C>T	NM_005537.5	NP_005528.4:p.(Leu176=)	NC_000013.10:g.111368316C>T	(Likely) benign	1 lab	8ca9320681
3:78685356 ROBO1 A>C	3	78685356	78685356	A	C	ROBO1	c.3038-98T>G	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78685356A>C	VUS	1 lab	8ca9d182ad
7:42116346 GLI3 C>T	7	42116346	42116346	C	T	GLI3	c.473+5G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42116346C>T	(Likely) pathogenic	1 lab	8cabfca111
12:9006810 A2ML1 C>T	12	9006810	9006810	C	T	A2ML1	c.2677C>T	NM_144670.6	NP_653271.3:p.(Arg893Ter)	NC_000012.11:g.9006810C>T	(Likely) pathogenic	1 lab	8cb32c1cc7
16:85694867 GSE1 A>T	16	85694867	85694867	A	T	GSE1	c.1444A>T	NM_001134473.3	NP_001127945.1:p.(Asn482Tyr)	NC_000016.9:g.85694867A>T	VUS	1 lab	8cc72c55b9
12:53070155 KRT1 C>G	12	53070155	53070155	C	G	KRT1	c.1379G>C	NM_006121.4	NP_006112.3:p.(Arg460Pro)	NC_000012.11:g.53070155C>G	VUS	1 lab	8cc77802e2
11:108175431 ATM T>A	11	108175431	108175431	T	A	ATM	c.5526T>A	NM_000051.4	NP_000042.3:p.(Leu1842=)	NC_000011.9:g.108175431T>A	(Likely) benign	1 lab	8cc8b5a749
11:47361270 MYBPC3 G>T	11	47361270	47361270	G	T	MYBPC3	c.1999C>A	NM_000256.3	NP_000247.2:p.(Leu667Ile)	NC_000011.9:g.47361270G>T	VUS	1 lab	8ccbafd717
11:118529078 TREH G>C	11	118529078	118529078	G	C	TREH	c.1672=	NM_007180.3	NP_009111.2:p.(Ala558=)	NC_000011.9:g.118529078G>C	(Likely) benign	1 lab	8ccf55fe4e
12:111886074 SH2B3 C>T	12	111886074	111886074	C	T	SH2B3	c.1696C>T	NM_005475.3	NP_005466.1:p.(Arg566Trp)	NC_000012.11:g.111886074C>T	VUS	1 lab	8cd634878f
6:33410979 SYNGAP1 C>T	6	33410979	33410979	C	T	SYNGAP1	c.2650C>T	NM_006772.3	NP_006763.2:p.(Arg884Trp)	NC_000006.11:g.33410979C>T	VUS	1 lab	8cde5e5ef6
17:73736111 ITGB4 G>A	17	73736111	73736111	G	A	ITGB4	c.2405G>A	NM_000213.5	NP_000204.3:p.(Gly802Asp)	NC_000017.10:g.73736111G>A	VUS	1 lab	8cea3ac4cb
9:120476361 TLR4 A>G	9	120476361	120476361	A	G	TLR4	c.1955A>G	NM_138554.5	NP_612564.1:p.(Tyr652Cys)	NC_000009.11:g.120476361A>G	VUS	1 lab	8cedc75bff
17:41243554 BRCA1 C>T	17	41243554	41243554	C	T	BRCA1	c.3994G>A	NM_007294.4	NP_009225.1:p.(Gly1332Arg)	NC_000017.10:g.41243554C>T	(Likely) pathogenic	1 lab	8ceeae518d
15:40898643 KNL1 G>C	15	40898643	40898643	G	C	KNL1	c.128G>C	NM_170589.5	NP_733468.3:p.(Arg43Thr)	NC_000015.9:g.40898643G>C	(Likely) benign	1 lab	8ceff6fff8
X:32519861 DMD C>T	X	32519861	32519861	C	T	DMD	c.2380+11G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32519861C>T	(Likely) benign	1 lab	8cf123b098
14:23874576 MYH6 G>A	14	23874576	23874576	G	A	MYH6	c.358C>T	NM_002471.4	NP_002462.2:p.(Leu120Phe)	NC_000014.8:g.23874576G>A	VUS	1 lab	8cf159eab3
20:62044846 KCNQ2 C>T	20	62044846	62044846	C	T	KCNQ2	c.1720G>A	NM_172107.4	NP_742105.1:p.(Gly574Ser)	NC_000020.10:g.62044846C>T	(Likely) pathogenic	1 lab	8cf212b8e5
22:41574969 EP300 TGTA>T	22	41574969	41574975	TGTA	T	EP300	c.*13_*15del	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41574973_41574975del	(Likely) benign	1 lab	8cf27aeed1
1:36359367 AGO1 A>C	1	36359367	36359367	A	C	AGO1	c.605A>C	NM_012199.5	NP_036331.1:p.(Gln202Pro)	NC_000001.10:g.36359367A>C	VUS	1 lab	8cf867823f
5:1219710 SLC6A19 G>A	5	1219710	1219710	G	A	SLC6A19	c.1469G>A	NM_001003841.3	NP_001003841.1:p.(Gly490Asp)	NC_000005.9:g.1219710G>A	VUS	1 lab	8cfcc36f24
1:160385935 VANGL2 C>T	1	160385935	160385935	C	T	VANGL2	c.155C>T	NM_020335.3	NP_065068.1:p.(Pro52Leu)	NC_000001.10:g.160385935C>T	VUS	1 lab	8d03e97b18
12:52844246 KRT6B A>G	12	52844246	52844246	A	G	KRT6B	c.699T>C	NM_005555.4	NP_005546.2:p.(Gly233=)	NC_000012.11:g.52844246A>G	(Likely) benign	1 lab	8d045a7381
9:98209353 PTCH1 C>T	9	98209353	98209353	C	T	PTCH1	c.3987G>A	NM_001083602.3	NP_001077071.1:p.(Gly1329=)	NC_000009.11:g.98209353C>T	(Likely) benign	1 lab	8d05daa97a
15:51756930 DMXL2 C>T	15	51756930	51756930	C	T	DMXL2	c.7750G>A	NM_001174116.3	NP_001167587.1:p.(Ala2584Thr)	NC_000015.9:g.51756930C>T	VUS	1 lab	8d06462c3a
21:43187043 RIPK4 C>T	21	43187043	43187043	C	T	RIPK4	c.159G>A	NM_020639.3	NP_065690.2:p.(Ser53=)	NC_000021.8:g.43187043C>T	(Likely) benign	1 lab	8d0d16d25f
X:144424301 MISSING 147509938>DEL	X	144424301	147509938	147509938	DEL	MISSING				NC_000023.10:g.144424301_147509938del	(Likely) pathogenic	1 lab	8d158bac90
2:29455322 ALK G>C	2	29455322	29455322	G	C	ALK	c.2488-8C>G	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29455322G>C	(Likely) benign	1 lab	8d17aa7cd9
20:10256145 SNAP25 C>T	20	10256145	10256145	C	T	SNAP25	c.6C>T	NM_003081.5	NP_003072.2:p.(Ala2=)	NC_000020.10:g.10256145C>T	(Likely) benign	1 lab	8d1830082e
1:8421106 RERE A>AGGGATGCGGCGG	1	8421106	8421127	A	AGGGATGCGGCGG	RERE	c.2449_2460dup	NM_012102.4	NP_036234.3:p.(Pro817_Pro820dup)	NC_000001.10:g.8421116_8421127dup	(Likely) benign	1 lab	8d19ea923b
3:170716187 SLC2A2 T>C	3	170716187	170716187	T	C	SLC2A2	c.1171-2A>G	NM_000340.2	NP_000331.1:p.?	NC_000003.11:g.170716187T>C	(Likely) pathogenic	1 lab	8d1bc8a4c3
13:32907360 BRCA2 CT>C	13	32907360	32907363	CT	C	BRCA2	c.1748del	NM_000059.4	NP_000050.3:p.(Leu583Ter)	NC_000013.10:g.32907363del	(Likely) pathogenic	1 lab	8d1d4ce75f
11:36614521 RAG2 C>G	11	36614521	36614521	C	G	RAG2	c.1198G>C	NM_001243786.2	NP_001230715.1:p.(Asp400His)	NC_000011.9:g.36614521C>G	VUS	1 lab	8d1dd72de5
9:134074263 NUP214 AG>A	9	134074263	134074269	AG	A	NUP214	c.5388del	NM_005085.4	NP_005076.3:p.(Leu1797CysfsTer64)	NC_000009.11:g.134074269del	(Likely) pathogenic	1 lab	8d1ecc0005
X:1407796 CSF2RA CAT>C	X	1407796	1407798	CAT	C	CSF2RA	c.473+16_473+17del	NM_001161529.2	NP_001155001.1:p.?	NC_000023.10:g.1407797_1407798del	(Likely) benign	1 lab	8d23f14f10
1:145509197 RBM8A C>T	1	145509197	145509197	C	T	RBM8A	c.511C>T	NM_005105.5	NP_005096.1:p.(Arg171Trp)	NC_000001.10:g.145509197C>T	VUS	1 lab	8d285544ea
18:19751260 GATA6 G>C	18	19751260	19751260	G	C	GATA6	c.155G>C	NM_005257.6	NP_005248.2:p.(Arg52Pro)	NC_000018.9:g.19751260G>C	VUS	1 lab	8d2a032b06
4:1231998 CTBP1 C>T	4	1231998	1231998	C	T	CTBP1	c.135G>A	NM_001012614.2	NP_001012632.1:p.(Ala45=)	NC_000004.11:g.1231998C>T	(Likely) benign	1 lab	8d366f3835
19:863182 CFD G>A	19	863182	863182	G	A	CFD	c.706G>A	NM_001928.4	NP_001919.2:p.(Gly236Arg)	NC_000019.9:g.863182G>A	VUS	1 lab	8d3a853160
7:99699626 AP4M1 T>C	7	99699626	99699626	T	C	AP4M1	c.147+35T>C	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99699626T>C	(Likely) benign	1 lab	8d3b61765e
17:41203088 BRCA1 A>C	17	41203088	41203088	A	C	BRCA1	c.5324T>G	NM_007294.4	NP_009225.1:p.(Met1775Arg)	NC_000017.10:g.41203088A>C	(Likely) pathogenic	1 lab	8d3ead877b
22:50895457 SBF1 C>T	22	50895457	50895457	C	T	SBF1	c.3904+6G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50895457C>T	(Likely) benign	1 lab	8d3ed440a0
12:69744014 LYZ C>A	12	69744014	69744014	C	A	LYZ	c.263C>A	NM_000239.3	NP_000230.1:p.(Thr88Asn)	NC_000012.11:g.69744014C>A	(Likely) benign	1 lab	8d420d1ce3
19:13319607 CACNA1A G>A	19	13319607	13319607	G	A	CACNA1A	c.6743C>T	NM_001127222.2	NP_001120694.1:p.(Ser2248Leu)	NC_000019.9:g.13319607G>A	VUS	1 lab	8d429404b5
17:65907146 BPTF C>T	17	65907146	65907146	C	T	BPTF	c.3524C>T	NM_004459.7	NP_004450.3:p.(Thr1175Ile)	NC_000017.10:g.65907146C>T	VUS	1 lab	8d443dfb2f
10:79793647 RPS24 A>C	10	79793647	79793647	A	C	RPS24	c.-13A>C	NM_033022.4	NP_148982.1:p.?	NC_000010.10:g.79793647A>C	VUS	1 lab	8d4a54a37e
X:49048053 SYP CCCGCCGGGGCCCTGCCCGTAG>C	X	49048053	49048076	CCCGCCGGGGCCCTGCCCGTAG	C	SYP	c.762_782del	NM_003179.3	NP_003170.1:p.(Gln257_Gly263del)	NC_000023.10:g.49048056_49048076del	VUS	1 lab	8d4c3b46f8
X:48760071 PQBP1 C>T	X	48760071	48760071	C	T	PQBP1	c.640C>T	NM_005710.2	NP_005701.1:p.(Arg214Trp)	NC_000023.10:g.48760071C>T	VUS	1 lab	8d4dc699bd
19:33414416 CEP89 T>G	19	33414416	33414416	T	G	CEP89	c.1197A>C	NM_032816.5	NP_116205.3:p.(Gln399His)	NC_000019.9:g.33414416T>G	VUS	1 lab	8d53753ed8
X:132795876 GPC3 TA>T	X	132795876	132795877	TA	T	GPC3	c.1294del	NM_004484.4	NP_004475.1:p.(Tyr432ThrfsTer10)	NC_000023.10:g.132795877del	VUS	1 lab	8d56af4a55
1:237951451 RYR2 A>C	1	237951451	237951451	A	C	RYR2	c.13476+16A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237951451A>C	(Likely) benign	1 lab	8d573ae196
2:179600383 TTN T>C	2	179600383	179600383	T	C	TTN	c.14790A>G	NM_001267550.2	NP_001254479.2:p.(Pro4930=)	NC_000002.11:g.179600383T>C	(Likely) benign	1 lab	8d5a9164c0
12:80747254 OTOGL C>A	12	80747254	80747254	C	A	OTOGL	c.5557C>A	NM_173591.7	NP_775862.4:p.(Pro1853Thr)	NC_000012.11:g.80747254C>A	VUS	1 lab	8d61e0291f
2:179397162 TTN C>T	2	179397162	179397162	C	T	TTN	c.104180G>A	NM_001267550.2	NP_001254479.2:p.(Arg34727Lys)	NC_000002.11:g.179397162C>T	(Likely) benign	1 lab	8d64f76d92
10:112540713 RBM20 GC>G	10	112540713	112540715	GC	G	RBM20	c.348del	NM_001134363.3	NP_001127835.2:p.(Ala117ProfsTer4)	NC_000010.10:g.112540715del	(Likely) pathogenic	1 lab	8d65599957
2:20205908 MATN3 G>T	2	20205908	20205908	G	T	MATN3	c.387C>A	NM_002381.5	NP_002372.1:p.(Ser129Arg)	NC_000002.11:g.20205908G>T	VUS	1 lab	8d6874df36
4:56841074 CEP135 G>A	4	56841074	56841074	G	A	CEP135	c.1412G>A	NM_025009.5	NP_079285.2:p.(Arg471Lys)	NC_000004.11:g.56841074G>A	VUS	1 lab	8d6b5e622f
22:21342308 LZTR1 C>A	22	21342308	21342308	C	A	LZTR1	c.410C>A	NM_006767.4	NP_006758.2:p.(Thr137Asn)	NC_000022.10:g.21342308C>A	VUS	1 lab	8d6cd7208c
11:108213994 ATM G>A	11	108213994	108213994	G	A	ATM	c.8314G>A	NM_000051.4	NP_000042.3:p.(Gly2772Arg)	NC_000011.9:g.108213994G>A	VUS	1 lab	8d6fe539c8
2:179479307 TTN T>C	2	179479307	179479307	T	C	TTN	c.41230A>G	NM_133378.4	NP_596869.4:p.(Lys13744Glu)	NC_000002.11:g.179479307T>C	VUS	1 lab	8d6ff6cf21
17:12898295 ELAC2 T>C	17	12898295	12898295	T	C	ELAC2	c.1893A>G	NM_018127.7	NP_060597.4:p.(Thr631=)	NC_000017.10:g.12898295T>C	(Likely) benign	1 lab	8d7311ca59
12:12356207 LRP6 C>T	12	12356207	12356207	C	T	LRP6	c.577G>A	NM_002336.3	NP_002327.2:p.(Glu193Lys)	NC_000012.11:g.12356207C>T	(Likely) benign	1 lab	8d75a73a47
5:178410151 GRM6 C>T	5	178410151	178410151	C	T	GRM6	c.2196G>A	NM_000843.4	NP_000834.2:p.(Thr732=)	NC_000005.9:g.178410151C>T	(Likely) benign	1 lab	8d78094708
9:140611429 EHMT1 C>T	9	140611429	140611429	C	T	EHMT1	c.437C>T	NM_024757.5	NP_079033.4:p.(Ser146Leu)	NC_000009.11:g.140611429C>T	VUS	1 lab	8d7a97fcb4
14:95584087 DICER1 T>C	14	95584087	95584087	T	C	DICER1	c.1381A>G	NM_177438.3	NP_803187.1:p.(Ile461Val)	NC_000014.8:g.95584087T>C	(Likely) benign	1 lab	8d7d864fff
6:51890037 PKHD1 A>C	6	51890037	51890037	A	C	PKHD1	c.4571T>G	NM_138694.4	NP_619639.3:p.(Leu1524Arg)	NC_000006.11:g.51890037A>C	VUS	1 lab	8d8469411f
4:3230642 HTT C>T	4	3230642	3230642	C	T	HTT	c.8021C>T	NM_002111.8	NP_002102.4:p.(Ser2674Leu)	NC_000004.11:g.3230642C>T	VUS	1 lab	8d84a53e44
15:90213229 PLIN1 G>C	15	90213229	90213229	G	C	PLIN1	c.580C>G	NM_002666.5	NP_002657.3:p.(Pro194Ala)	NC_000015.9:g.90213229G>C	(Likely) benign	1 lab	8d8f211b4a
5:39341782 C9 C>G	5	39341782	39341782	C	G	C9	c.204G>C	NM_001737.5	NP_001728.1:p.(Glu68Asp)	NC_000005.9:g.39341782C>G	VUS	1 lab	8d90722bf9
1:1470837 TMEM240 G>A	1	1470837	1470837	G	A	TMEM240	c.424C>T	NM_001114748.2	NP_001108220.1:p.(Arg142Trp)	NC_000001.10:g.1470837G>A	(Likely) benign	1 lab	8d975c2301
11:118529069 TREH G>C	11	118529069	118529069	G	C	TREH	c.1681=	NM_007180.3	NP_009111.2:p.(Ala561=)	NC_000011.9:g.118529069G>C	(Likely) benign	1 lab	8d9c954edf
17:10543281 MYH3 TAA>T	17	10543281	10543295	TAA	T	MYH3	c.2682+30_2682+31del	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543294_10543295del	(Likely) benign	1 lab	8d9ca7997d
4:170428216 NEK1 T>A	4	170428216	170428216	T	A	NEK1	c.1895A>T	NM_012224.4	NP_036356.1:p.(Glu632Val)	NC_000004.11:g.170428216T>A	VUS	1 lab	8da2b131e7
14:50585512 SOS2 T>TGGA	14	50585512	50585523	T	TGGA	SOS2	c.3546_3548dup	NM_006939.4	NP_008870.2:p.(Pro1183dup)	NC_000014.8:g.50585521_50585523dup	(Likely) benign	1 lab	8da2d9ad8c
12:21997807 ABCC9 T>C	12	21997807	21997807	T	C	ABCC9	c.3139A>G	NM_005691.4	NP_005682.2:p.(Ile1047Val)	NC_000012.11:g.21997807T>C	VUS	1 lab	8da6a4b4ae
17:4926926 KIF1C A>G	17	4926926	4926926	A	G	KIF1C	c.2792A>G	NM_006612.6	NP_006603.2:p.(Asp931Gly)	NC_000017.10:g.4926926A>G	VUS	1 lab	8da8035697
18:43487994 EPG5 C>T	18	43487994	43487994	C	T	EPG5	c.4258G>A	NM_020964.3	NP_066015.2:p.(Asp1420Asn)	NC_000018.9:g.43487994C>T	VUS	1 lab	8db3b15929
13:32915177 BRCA2 GA>G	13	32915177	32915180	GA	G	BRCA2	c.6688del	NM_000059.4	NP_000050.3:p.(Ile2230LeufsTer11)	NC_000013.10:g.32915180del	(Likely) pathogenic	1 lab	8db78e58c0
17:78064011 CCDC40 CGAA>C	17	78064011	78064017	CGAA	C	CCDC40	c.2832+332_2832+334del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064015_78064017del	VUS	1 lab	a66714535b
2:51253600 NRXN1 T>A	2	51253600	51253600	T	A	NRXN1	c.780A>T	NM_001135659.3	NP_001129131.1:p.(Lys260Asn)	NC_000002.11:g.51253600T>A	(Likely) benign	1 lab	8dbac36039
11:118895624 SLC37A4 T>G	11	118895624	118895624	T	G	SLC37A4	c.1286A>C	NM_001164277.2	NP_001157749.1:p.(Glu429Ala)	NC_000011.9:g.118895624T>G	VUS	1 lab	8dbfd0da7a
19:13201125 NFIX C>T	19	13201125	13201125	C	T	NFIX	c.1439C>T	NM_001271043.2	NP_001257972.1:p.(Thr480Ile)	NC_000019.9:g.13201125C>T	VUS	1 lab	8dc3f7ba89
20:10653633 JAG1 A>G	20	10653633	10653633	A	G	JAG1	c.103T>C	NM_000214.3	NP_000205.1:p.(Phe35Leu)	NC_000020.10:g.10653633A>G	(Likely) pathogenic	1 lab	8dc63b560f
1:152331330 FLG2 C>T	1	152331330	152331330	C	T	FLG2	c.31G>A	NM_001014342.3	NP_001014364.1:p.(Val11Ile)	NC_000001.10:g.152331330C>T	VUS	1 lab	8dc7ba2404
18:33721325 ELP2 C>T	18	33721325	33721325	C	T	ELP2	c.783+161C>T	NM_001242875.3	NP_001229804.1:p.?	NC_000018.9:g.33721325C>T	(Likely) benign	1 lab	8dc8bae7c2
7:47944057 PKD1L1 C>T	7	47944057	47944057	C	T	PKD1L1	c.1849G>A	NM_138295.5	NP_612152.1:p.(Gly617Ser)	NC_000007.13:g.47944057C>T	VUS	1 lab	8dc948925e
16:773313 CCDC78 G>GC	16	773313	773321	G	GC	CCDC78	c.1134-153dup	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.773321dup	(Likely) benign	1 lab	8dcfae3849
14:24709701 TINF2 T>C	14	24709701	24709701	T	C	TINF2	c.985A>G	NM_001099274.3	NP_001092744.1:p.(Lys329Glu)	NC_000014.8:g.24709701T>C	VUS	1 lab	8dd169a318
5:149314257 PDE6A C>T	5	149314257	149314257	C	T	PDE6A	c.499G>A	NM_000440.3	NP_000431.2:p.(Asp167Asn)	NC_000005.9:g.149314257C>T	VUS	1 lab	8dd2295bba
6:32632783 HLA-DQB1 A>C	6	32632783	32632783	A	C	HLA-DQB1	c.171T>G	NM_001243961.2	NP_001230890.1:p.(Arg57=)	NC_000006.11:g.32632783A>C	(Likely) benign	1 lab	8dd3fb2239
X:40458829 ATP6AP2 G>T	X	40458829	40458829	G	T	ATP6AP2	c.589-15G>T	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40458829G>T	(Likely) benign	1 lab	8dd487f8b4
5:1213682 SLC6A19 G>A	5	1213682	1213682	G	A	SLC6A19	c.768G>A	NM_001003841.3	NP_001003841.1:p.(Thr256=)	NC_000005.9:g.1213682G>A	(Likely) benign	1 lab	8dd8230e80
12:52844265 KRT6B T>C	12	52844265	52844265	T	C	KRT6B	c.680A>G	NM_005555.4	NP_005546.2:p.(Asn227Ser)	NC_000012.11:g.52844265T>C	(Likely) benign	1 lab	8dd9169be4
12:56720687 PAN2 C>T	12	56720687	56720687	C	T	PAN2	c.976G>A	NM_001127460.3	NP_001120932.2:p.(Val326Met)	NC_000012.11:g.56720687C>T	VUS	1 lab	8dd91ee008
13:52516659 ATP7B G>A	13	52516659	52516659	G	A	ATP7B	c.3275C>T	NM_000053.4	NP_000044.2:p.(Thr1092Met)	NC_000013.10:g.52516659G>A	(Likely) pathogenic	1 lab	8de1111b48
12:13716682 GRIN2B G>A	12	13716682	13716682	G	A	GRIN2B	c.3490C>T	NM_000834.5	NP_000825.2:p.(Arg1164Cys)	NC_000012.11:g.13716682G>A	VUS	1 lab	8de16fd464
1:150064116 VPS45 G>A	1	150064116	150064116	G	A	VPS45	c.1190G>A	NM_007259.5	NP_009190.2:p.(Arg397Gln)	NC_000001.10:g.150064116G>A	VUS	1 lab	8de1eed832
12:53204614 KRT4 C>T	12	53204614	53204614	C	T	KRT4	c.678-14G>A	NM_002272.4	NP_002263.3:p.?	NC_000012.11:g.53204614C>T	(Likely) benign	1 lab	8de2642331
8:42129665 IKBKB A>C	8	42129665	42129665	A	C	IKBKB	c.47A>C	NM_001556.3	NP_001547.1:p.(Glu16Ala)	NC_000008.10:g.42129665A>C	VUS	1 lab	8de2f03df3
X:48458718 WDR13 C>T	X	48458718	48458718	C	T	WDR13	c.259C>T	NM_001166426.3	NP_001159898.1:p.(Arg87Cys)	NC_000023.10:g.48458718C>T	VUS	1 lab	8de389978b
7:100411294 EPHB4 C>A	7	100411294	100411294	C	A	EPHB4	c.1736G>T	NM_004444.5	NP_004435.3:p.(Gly579Val)	NC_000007.13:g.100411294C>A	VUS	1 lab	8de59fc756
3:48603723 COL7A1 C>T	3	48603723	48603723	C	T	COL7A1	c.8384G>A	NM_000094.4	NP_000085.1:p.(Arg2795His)	NC_000003.11:g.48603723C>T	VUS	1 lab	8de5e58d1b
6:29911893 HLA-A C>T	6	29911893	29911893	C	T	HLA-A	c.620-6C>T	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29911893C>T	(Likely) benign	1 lab	8de81f9dfc
20:50405616 SALL4 AG>A	20	50405616	50405618	AG	A	SALL4	c.2525del	NM_020436.5	NP_065169.1:p.(Pro842LeufsTer14)	NC_000020.10:g.50405618del	(Likely) pathogenic	1 lab	8de9e54ca3
7:128483482 FLNC A>G	7	128483482	128483482	A	G	FLNC	c.2662A>G	NM_001458.5	NP_001449.3:p.(Thr888Ala)	NC_000007.13:g.128483482A>G	VUS	1 lab	8df975eb2f
X:48674931 HDAC6 G>A	X	48674931	48674931	G	A	HDAC6	c.1682G>A	NM_001321226.2	NP_001308155.1:p.(Arg561His)	NC_000023.10:g.48674931G>A	VUS	1 lab	8e03de2170
11:61541493 MYRF C>T	11	61541493	61541493	C	T	MYRF	c.1170C>T	NM_001127392.3	NP_001120864.1:p.(Gly390=)	NC_000011.9:g.61541493C>T	VUS	1 lab	8e03f977cb
11:120989030 TECTA G>A	11	120989030	120989030	G	A	TECTA	c.806G>A	NM_005422.4	NP_005413.2:p.(Arg269Gln)	NC_000011.9:g.120989030G>A	VUS	1 lab	8e047b0a34
7:74199629 NCF1 G>A	7	74199629	74199629	G	A	NCF1	c.784G>A	NM_000265.6	NP_000256.4:p.(Gly262Ser)	NC_000007.13:g.74199629G>A	(Likely) pathogenic	1 lab	8e089daad5
6:38690969 DNAH8 G>C	6	38690969	38690969	G	C	DNAH8	c.384G>C	NM_001206927.2	NP_001193856.1:p.(Glu128Asp)	NC_000006.11:g.38690969G>C	VUS	1 lab	8e08ffeb1a
12:21981955 ABCC9 C>T	12	21981955	21981955	C	T	ABCC9	c.3606G>A	NM_020297.4	NP_064693.2:p.(Thr1202=)	NC_000012.11:g.21981955C>T	(Likely) benign	1 lab	8e0afce707
15:62242566 VPS13C CTGTT>C	15	62242566	62242572	CTGTT	C	VPS13C	c.4583_4586del	NM_020821.3	NP_065872.1:p.(Lys1528ArgfsTer3)	NC_000015.9:g.62242569_62242572del	(Likely) pathogenic	1 lab	8e0c4c8212
16:29825024 PRRT2 CG>C	16	29825024	29825025	CG	C	PRRT2	c.650del	NM_001256443.2	NP_001243372.1:p.(Arg217GlnfsTer12)	NC_000016.9:g.29825025del	(Likely) pathogenic	1 lab	8e0e432d05
4:114153398 ANK2 C>G	4	114153398	114153398	C	G	ANK2	c.466C>G	NM_001148.6	NP_001139.3:p.(Gln156Glu)	NC_000004.11:g.114153398C>G	VUS	1 lab	8e1242380d
3:10183699 VHL C>T	3	10183699	10183699	C	T	VHL	c.168C>T	NM_000551.4	NP_000542.1:p.(Ala56=)	NC_000003.11:g.10183699C>T	(Likely) benign	1 lab	8e1a5a8385
X:153693566 PLXNA3 G>T	X	153693566	153693566	G	T	PLXNA3	c.2244+5G>T	NM_017514.5	NP_059984.3:p.?	NC_000023.10:g.153693566G>T	VUS	1 lab	8e1bd20fc2
12:13724810 GRIN2B G>C	12	13724810	13724810	G	C	GRIN2B	c.2099C>G	NM_000834.5	NP_000825.2:p.(Ala700Gly)	NC_000012.11:g.13724810G>C	VUS	1 lab	8e26e7d6e3
2:8946448 KIDINS220 C>G	2	8946448	8946448	C	G	KIDINS220	c.556G>C	NM_020738.4	NP_065789.1:p.(Val186Leu)	NC_000002.11:g.8946448C>G	VUS	1 lab	8e27f72a6d
X:69247822 EDA GGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA>G	X	69247822	69247863	GGGACCACCTGGTCCTCCAGGTCCTCCTGGTCCTCAA	G	EDA	c.648_683del	NM_001399.5	NP_001390.1:p.(Pro219_Gly230del)	NC_000023.10:g.69247828_69247863del	(Likely) pathogenic	1 lab	8e2c8642ee
11:1462083 BRSK2 T>A	11	1462083	1462083	T	A	BRSK2	c.338T>A	NM_001256627.2	NP_001243556.1:p.(Leu113Gln)	NC_000011.9:g.1462083T>A	VUS	1 lab	8e2fddb9d6
1:209801471 LAMB3 ACACTGCCCGGT>A	1	209801471	209801487	ACACTGCCCGGT	A	LAMB3	c.1186_1196del	NM_001017402.2	NP_001017402.1:p.(Thr396CysfsTer12)	NC_000001.10:g.209801477_209801487del	(Likely) pathogenic	1 lab	8e304d7319
4:94316763 GRID2 T>G	4	94316763	94316763	T	G	GRID2	c.1251T>G	NM_001510.4	NP_001501.2:p.(Gly417=)	NC_000004.11:g.94316763T>G	(Likely) benign	1 lab	8e3225e9a0
16:4748043 ANKS3 G>A	16	4748043	4748043	G	A	ANKS3	c.1745C>T	NM_133450.4	NP_597707.1:p.(Ser582Leu)	NC_000016.9:g.4748043G>A	(Likely) benign	1 lab	8e33733fa7
1:94578548 ABCA4 T>C	1	94578548	94578548	T	C	ABCA4	c.141A>G	NM_000350.3	NP_000341.2:p.(Pro47=)	NC_000001.10:g.94578548T>C	(Likely) benign	1 lab	8e35e584a8
4:190862182 FRG1 C>T	4	190862182	190862182	C	T	FRG1	c.18C>T	NM_004477.3	NP_004468.1:p.(Tyr6=)	NC_000004.11:g.190862182C>T	(Likely) benign	1 lab	8e3f5afd1e
1:193219854 CDC73 C>A	1	193219854	193219854	C	A	CDC73	c.*12C>A	NM_024529.5	NP_078805.3:p.?	NC_000001.10:g.193219854C>A	(Likely) benign	1 lab	8e45dc21da
6:42162575 GUCA1B A>G	6	42162575	42162575	A	G	GUCA1B	c.-17T>C	NM_002098.6	NP_002089.4:p.?	NC_000006.11:g.42162575A>G	(Likely) benign	1 lab	8e486eae4b
10:16943371 CUBN G>C	10	16943371	16943371	G	C	CUBN	c.8150C>G	NM_001081.4	NP_001072.2:p.(Ser2717Trp)	NC_000010.10:g.16943371G>C	(Likely) benign	1 lab	8e48be21fc
11:47354863 MYBPC3 T>G	11	47354863	47354863	T	G	MYBPC3	c.3212A>C	NM_000256.3	NP_000247.2:p.(Asp1071Ala)	NC_000011.9:g.47354863T>G	VUS	1 lab	8e4aef15d2
7:43827533 BLVRA G>A	7	43827533	43827533	G	A	BLVRA	c.43G>A	NM_000712.4	NP_000703.2:p.(Gly15Ser)	NC_000007.13:g.43827533G>A	VUS	1 lab	8e4bda0f9d
7:128490538 FLNC G>T	7	128490538	128490538	G	T	FLNC	c.5398+1G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490538G>T	(Likely) pathogenic	1 lab	8e5116ff2b
17:59560398 TBX4 A>AC	17	59560398	59560403	A	AC	TBX4	c.1167dup	NM_001321120.2	NP_001308049.1:p.(Arg390GlnfsTer30)	NC_000017.10:g.59560403dup	(Likely) pathogenic	1 lab	8e51f8b03d
6:33139548 COL11A2 G>A	6	33139548	33139548	G	A	COL11A2	c.3092C>T	NM_080680.3	NP_542411.2:p.(Pro1031Leu)	NC_000006.11:g.33139548G>A	VUS	1 lab	8e593bb1f7
12:49433322 KMT2D C>G	12	49433322	49433322	C	G	KMT2D	c.8125G>C	NM_003482.4	NP_003473.3:p.(Ala2709Pro)	NC_000012.11:g.49433322C>G	VUS	1 lab	8e5a3d4439
6:102516346 GRIK2 T>G	6	102516346	102516346	T	G	GRIK2	c.2687T>G	NM_021956.5	NP_068775.1:p.(Phe896Cys)	NC_000006.11:g.102516346T>G	VUS	1 lab	8e5d8fd4d1
19:11152229 SMARCA4 A>G	19	11152229	11152229	A	G	SMARCA4	c.4513A>G	NM_001128849.3	NP_001122321.1:p.(Lys1505Glu)	NC_000019.9:g.11152229A>G	VUS	1 lab	8e5f4e38dd
18:29102079 DSG2 C>T	18	29102079	29102079	C	T	DSG2	c.557C>T	NM_001943.5	NP_001934.2:p.(Ala186Val)	NC_000018.9:g.29102079C>T	VUS	1 lab	8e60f58ea0
8:144999935 PLEC G>A	8	144999935	144999935	G	A	PLEC	c.4573C>T	NM_201380.4	NP_958782.1:p.(Arg1525Trp)	NC_000008.10:g.144999935G>A	(Likely) benign	1 lab	8e629db2d2
16:1642537 IFT140 G>A	16	1642537	1642537	G	A	IFT140	c.422C>T	NM_014714.4	NP_055529.2:p.(Thr141Met)	NC_000016.9:g.1642537G>A	VUS	1 lab	8e68395c56
2:48026482 MSH6 G>A	2	48026482	48026482	G	A	MSH6	c.1360G>A	NM_000179.3	NP_000170.1:p.(Gly454Ser)	NC_000002.11:g.48026482G>A	VUS	1 lab	8e6c77e135
6:152291398 ESR1 G>T	6	152291398	152291398	G	T	ESR1	c.1096+25755G>T	NM_000125.4	NP_000116.2:p.?	NC_000006.11:g.152291398G>T	(Likely) benign	1 lab	8e6f13a763
X:49104730 CCDC22 G>C	X	49104730	49104730	G	C	CCDC22	c.1171G>C	NM_014008.5	NP_054727.1:p.(Glu391Gln)	NC_000023.10:g.49104730G>C	(Likely) benign	1 lab	8e74bf4f7f
6:51695647 PKHD1 A>T	6	51695647	51695647	A	T	PKHD1	c.8302+12T>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51695647A>T	(Likely) benign	1 lab	8e756eccc4
13:103519075 ERCC5 G>A	13	103519075	103519075	G	A	ERCC5	c.2413G>A	NM_000123.4	NP_000114.3:p.(Gly805Arg)	NC_000013.10:g.103519075G>A	(Likely) pathogenic	1 lab	8e77c4f430
11:62295943 AHNAK C>T	11	62295943	62295943	C	T	AHNAK	c.5946G>A	NM_001620.3	NP_001611.1:p.(Met1982Ile)	NC_000011.9:g.62295943C>T	VUS	1 lab	8e7998495a
5:147473988 SPINK5 C>T	5	147473988	147473988	C	T	SPINK5	c.738C>T	NM_001127698.2	NP_001121170.1:p.(Val246=)	NC_000005.9:g.147473988C>T	(Likely) benign	1 lab	8e7d03fadb
18:59713206 PIGN G>C	18	59713206	59713206	G	C	PIGN	c.2679C>G	NM_176787.5	NP_789744.1:p.(Ser893Arg)	NC_000018.9:g.59713206G>C	VUS	1 lab	8e7df83789
2:110853202 MISSING 110984543>DUP	2	110853202	110984543	110984543	DUP	MISSING				NC_000002.11:g.110853202_110984543dup	(Likely) benign	1 lab	8e7e20a0e1
14:36988425 NKX2-1 CGCCTGGCCCT>C	14	36988425	36988440	CGCCTGGCCCT	C	NKX2-1	c.128_137del	NM_003317.4	NP_003308.1:p.(Gln43ArgfsTer25)	NC_000014.8:g.36988431_36988440del	(Likely) pathogenic	1 lab	8e7fc026d1
13:52513345 ATP7B C>T	13	52513345	52513345	C	T	ATP7B	c.3557-16G>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52513345C>T	(Likely) benign	1 lab	8e827f6117
22:26859942 HPS4 C>T	22	26859942	26859942	C	T	HPS4	c.1654G>A	NM_022081.6	NP_071364.4:p.(Val552Met)	NC_000022.10:g.26859942C>T	(Likely) benign	1 lab	8e8558b5bd
16:9923467 GRIN2A A>G	16	9923467	9923467	A	G	GRIN2A	c.1820T>C	NM_000833.5	NP_000824.1:p.(Leu607Pro)	NC_000016.9:g.9923467A>G	VUS	1 lab	8e89931f29
4:167012381 TLL1 G>A	4	167012381	167012381	G	A	TLL1	c.2544G>A	NM_012464.5	NP_036596.3:p.(Leu848=)	NC_000004.11:g.167012381G>A	(Likely) benign	1 lab	8e8b79bca8
17:41197708 BRCA1 T>TG	17	41197708	41197713	T	TG	BRCA1	c.5578dup	NM_007294.4	NP_009225.1:p.(His1860ProfsTer20)	NC_000017.10:g.41197713dup	(Likely) benign	1 lab	8e8e91b46c
1:200969547 KIF21B C>A	1	200969547	200969547	C	A	KIF21B	c.1656G>T	NM_017596.4	NP_060066.2:p.(Lys552Asn)	NC_000001.10:g.200969547C>A	VUS	1 lab	8e962f9fc5
11:36511764 TRAF6 G>A	11	36511764	36511764	G	A	TRAF6	c.1193C>T	NM_145803.3	NP_665802.1:p.(Pro398Leu)	NC_000011.9:g.36511764G>A	VUS	1 lab	8e99ceb41d
18:10682221 PIEZO2 G>A	18	10682221	10682221	G	A	PIEZO2	c.7227C>T	NM_022068.4	NP_071351.2:p.(Ile2409=)	NC_000018.9:g.10682221G>A	(Likely) benign	1 lab	8e9b585037
9:114484806 SHOC1 G>A	9	114484806	114484806	G	A	SHOC1	c.1705C>T	NM_001080551.3	NP_001074020.3:p.(Leu569Phe)	NC_000009.11:g.114484806G>A	VUS	1 lab	8e9ba1152e
16:70289669 AARS1 G>A	16	70289669	70289669	G	A	AARS1	c.2248C>T	NM_001605.3	NP_001596.2:p.(Arg750Trp)	NC_000016.9:g.70289669G>A	VUS	1 lab	8e9f84705f
14:77757716 POMT2 G>A	14	77757716	77757716	G	A	POMT2	c.1124C>T	NM_013382.7	NP_037514.2:p.(Thr375Ile)	NC_000014.8:g.77757716G>A	VUS	1 lab	8ea15a9aba
2:179455097 TTN A>T	2	179455097	179455097	A	T	TTN	c.61355T>A	NM_001267550.2	NP_001254479.2:p.(Ile20452Asn)	NC_000002.11:g.179455097A>T	VUS	1 lab	8ea6fe469b
3:38674672 SCN5A G>A	3	38674672	38674672	G	A	SCN5A	c.127C>T	NM_198056.3	NP_932173.1:p.(Arg43Ter)	NC_000003.11:g.38674672G>A	(Likely) pathogenic	1 lab	8ea7c8e362
17:35696804 ACACA G>A	17	35696804	35696804	G	A	ACACA	c.45=	NM_198834.3	NP_942131.1:p.(Phe15=)	NC_000017.10:g.35696804G>A	(Likely) benign	1 lab	8ea931bd17
15:72020909 THSD4 G>A	15	72020909	72020909	G	A	THSD4	c.299G>A	NM_001286429.2	NP_001273358.1:p.(Arg100His)	NC_000015.9:g.72020909G>A	VUS	1 lab	8eb3724dc8
6:157100055 ARID1B C>CAGG	6	157100055	157100063	C	CAGG	ARID1B	c.1247_1249dup	NM_001371656.1	NP_001358585.1:p.(Gly416dup)	NC_000006.11:g.157100061_157100063dup	VUS	1 lab	8eb707b6cf
19:45314496 BCAM GTGCGCT>G	19	45314496	45314504	GTGCGCT	G	BCAM	c.100_105del	NM_005581.5	NP_005572.2:p.(Arg34_Leu35del)	NC_000019.9:g.45314499_45314504del	VUS	1 lab	8ebe53151b
6:143095682 HIVEP2 C>A	6	143095682	143095682	C	A	HIVEP2	c.194G>T	NM_006734.4	NP_006725.3:p.(Gly65Val)	NC_000006.11:g.143095682C>A	(Likely) benign	1 lab	8ec05f5e17
6:45405762 RUNX2 C>T	6	45405762	45405762	C	T	RUNX2	c.659C>T	NM_001024630.4	NP_001019801.3:p.(Thr220Ile)	NC_000006.11:g.45405762C>T	(Likely) pathogenic	1 lab	8ec4f56759
X:153713787 UBL4A C>T	X	153713787	153713787	C	T	UBL4A	c.*91=	NM_014235.5	NP_055050.1:p.?	NC_000023.10:g.153713787C>T	(Likely) benign	1 lab	8ecab368f0
19:42777589 CIC C>T	19	42777589	42777589	C	T	CIC	c.1654C>T	NM_001386298.1	NP_001373227.1:p.(Arg552Cys)	NC_000019.9:g.42777589C>T	VUS	1 lab	8ecb52f2b3
5:176720813 NSD1 A>G	5	176720813	176720813	A	G	NSD1	c.6464-20A>G	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176720813A>G	(Likely) benign	1 lab	8ecbb60eab
12:52865838 KRT6C T>C	12	52865838	52865838	T	C	KRT6C	c.755+12A>G	NM_173086.5	NP_775109.2:p.?	NC_000012.11:g.52865838T>C	(Likely) benign	1 lab	8ecd005060
1:156105919 LMNA TG>T	1	156105919	156105923	TG	T	LMNA	c.1157+11del	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105923del	(Likely) benign	1 lab	8ed22d9324
9:140878715 CACNA1B C>T	9	140878715	140878715	C	T	CACNA1B	c.1769+13C>T	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140878715C>T	(Likely) benign	1 lab	8ed475eba4
19:36223347 KMT2B C>T	19	36223347	36223347	C	T	KMT2B	c.5897C>T	NM_014727.3	NP_055542.1:p.(Ser1966Phe)	NC_000019.9:g.36223347C>T	(Likely) benign	1 lab	8ed5b58697
19:13246380 NACC1 TC>T	19	13246380	13246382	TC	T	NACC1	c.361del	NM_052876.4	NP_443108.1:p.(Leu121SerfsTer3)	NC_000019.9:g.13246382del	VUS	1 lab	8ed5eaa262
17:39661700 KRT13 G>A	17	39661700	39661700	G	A	KRT13	c.103C>T	NM_002274.4	NP_002265.3:p.(Arg35Trp)	NC_000017.10:g.39661700G>A	VUS	1 lab	8ed6ff8d59
5:142593652 ARHGAP26 C>T	5	142593652	142593652	C	T	ARHGAP26	c.2355C>T	NM_015071.6	NP_055886.1:p.(Asn785=)	NC_000005.9:g.142593652C>T	(Likely) benign	1 lab	8edd2b2275
8:121383082 COL14A1 A>T	8	121383082	121383082	A	T	COL14A1	c.5312-309A>T	NM_021110.4	NP_066933.1:p.?	NC_000008.10:g.121383082A>T	(Likely) benign	1 lab	8edd4f9e17
7:141352613 AGK CAGTG>C	7	141352613	141352619	CAGTG	C	AGK	c.1161_1164del	NM_018238.4	NP_060708.1:p.(Ser387ArgfsTer10)	NC_000007.13:g.141352616_141352619del	(Likely) pathogenic	1 lab	8ee0d7d172
16:28944396 CD19 C>G	16	28944396	28944396	C	G	CD19	c.520C>G	NM_001178098.2	NP_001171569.1:p.(Leu174Val)	NC_000016.9:g.28944396C>G	(Likely) benign	1 lab	8ee1d4fb83
17:48695666 CACNA1G C>A	17	48695666	48695666	C	A	CACNA1G	c.5389C>A	NM_018896.5	NP_061496.2:p.(Arg1797=)	NC_000017.10:g.48695666C>A	(Likely) benign	1 lab	8ee77b58e4
10:112540908 RBM20 G>A	10	112540908	112540908	G	A	RBM20	c.541G>A	NM_001134363.3	NP_001127835.2:p.(Gly181Arg)	NC_000010.10:g.112540908G>A	(Likely) benign	1 lab	8ee999996b
15:43045135 TTBK2 A>G	15	43045135	43045135	A	G	TTBK2	c.2309T>C	NM_173500.4	NP_775771.3:p.(Phe770Ser)	NC_000015.9:g.43045135A>G	VUS	1 lab	8ef0ece360
2:15448350 NBAS G>C	2	15448350	15448350	G	C	NBAS	c.4787C>G	NM_015909.4	NP_056993.2:p.(Pro1596Arg)	NC_000002.11:g.15448350G>C	VUS	1 lab	8ef392c947
15:56388745 RFX7 T>C	15	56388745	56388745	T	C	RFX7	c.1181A>G	NM_022841.7	NP_073752.6:p.(Asn394Ser)	NC_000015.9:g.56388745T>C	VUS	1 lab	8ef4b73de4
8:27382980 EPHX2 TCC>T	8	27382980	27382982	TCC	T	EPHX2	c.1161_1162del	NM_001979.6	NP_001970.2:p.(Phe387LeufsTer7)	NC_000008.10:g.27382981_27382982del	VUS	1 lab	8ef67b8c0c
X:66765158 AR TGCAGCAGCAGCAGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCAGCAGCAGCAGCA	T	AR	c.216_239del	NM_000044.6	NP_000035.2:p.(Gln73_Gln80del)	NC_000023.10:g.66765204_66765227del	(Likely) benign	1 lab	8efb7104df
21:34926596 SON G>A	21	34926596	34926596	G	A	SON	c.5059G>A	NM_032195.3	NP_115571.3:p.(Glu1687Lys)	NC_000021.8:g.34926596G>A	VUS	1 lab	8efbf3cf4e
17:48268223 COL1A1 A>G	17	48268223	48268223	A	G	COL1A1	c.2298T>C	NM_000088.4	NP_000079.2:p.(Thr766=)	NC_000017.10:g.48268223A>G	(Likely) benign	1 lab	8f02560118
19:4101082 MAP2K2 C>T	19	4101082	4101082	C	T	MAP2K2	c.640G>A	NM_030662.4	NP_109587.1:p.(Gly214Arg)	NC_000019.9:g.4101082C>T	VUS	1 lab	8f07ec0bd7
11:72145470 CLPB G>T	11	72145470	72145470	G	T	CLPB	c.49C>A	NM_030813.6	NP_110440.1:p.(Leu17Ile)	NC_000011.9:g.72145470G>T	VUS	1 lab	8f0c4f30c8
17:56679864 TEX14 G>A	17	56679864	56679864	G	A	TEX14	c.1424C>T	NM_198393.4	NP_938207.2:p.(Pro475Leu)	NC_000017.10:g.56679864G>A	VUS	1 lab	8f0eed993a
5:149824223 RPS14 T>C	5	149824223	149824223	T	C	RPS14	c.389-307A>G	NM_001025071.2	NP_001020242.1:p.?	NC_000005.9:g.149824223T>C	(Likely) benign	1 lab	8f0f588b09
5:126755868 MEGF10 G>A	5	126755868	126755868	G	A	MEGF10	c.1559G>A	NM_032446.3	NP_115822.1:p.(Trp520Ter)	NC_000005.9:g.126755868G>A	(Likely) pathogenic	1 lab	8f1a475e72
10:75399794 MYOZ1 C>T	10	75399794	75399794	C	T	MYOZ1	c.-18-1G>A	NM_021245.4	NP_067068.1:p.?	NC_000010.10:g.75399794C>T	VUS	1 lab	8f1f441371
6:29910522 HLA-A G>C	6	29910522	29910522	G	C	HLA-A	c.74-12G>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910522G>C	(Likely) benign	1 lab	8f21ebbc67
22:38524337 PLA2G6 C>T	22	38524337	38524337	C	T	PLA2G6	c.1287G>A	NM_003560.4	NP_003551.2:p.(Ala429=)	NC_000022.10:g.38524337C>T	(Likely) benign	1 lab	8f22a681ec
15:66745890 MAP2K1 G>A	15	66745890	66745890	G	A	MAP2K1	c.568+8845G>A	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66745890G>A	(Likely) benign	1 lab	8f258ae323
2:179606187 TTN C>A	2	179606187	179606187	C	A	TTN	c.10822G>T	NM_001256850.1	NP_001243779.1:p.(Val3608Leu)	NC_000002.11:g.179606187C>A	VUS	1 lab	8f26c035ae
22:42610408 TCF20 G>A	22	42610408	42610408	G	A	TCF20	c.904C>T	NM_005650.4	NP_005641.1:p.(Gln302Ter)	NC_000022.10:g.42610408G>A	(Likely) pathogenic	1 lab	8f2d2cade1
17:63532508 AXIN2 G>A	17	63532508	63532508	G	A	AXIN2	c.2071C>T	NM_004655.4	NP_004646.3:p.(Pro691Ser)	NC_000017.10:g.63532508G>A	VUS	1 lab	8f37ffb0c9
19:38935243 RYR1 G>A	19	38935243	38935243	G	A	RYR1	c.557G>A	NM_000540.3	NP_000531.2:p.(Gly186Glu)	NC_000019.9:g.38935243G>A	VUS	1 lab	8f396ae73d
18:47363080 MYO5B C>T	18	47363080	47363080	C	T	MYO5B	c.5313+1G>A	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47363080C>T	(Likely) pathogenic	1 lab	8f45af1756
10:28884658 WAC A>T	10	28884658	28884658	A	T	WAC	c.611-4A>T	NM_016628.5	NP_057712.2:p.?	NC_000010.10:g.28884658A>T	(Likely) benign	1 lab	8f48591f6c
12:6125954 VWF A>T	12	6125954	6125954	A	T	VWF	c.5136T>A	NM_000552.5	NP_000543.3:p.(Ser1712Arg)	NC_000012.11:g.6125954A>T	VUS	1 lab	8f493b42ac
10:67863007 CTNNA3 T>G	10	67863007	67863007	T	G	CTNNA3	c.1885A>C	NM_013266.4	NP_037398.2:p.(Thr629Pro)	NC_000010.10:g.67863007T>G	VUS	1 lab	8f4becdba5
13:20717372 GJA3 G>A	13	20717372	20717372	G	A	GJA3	c.56C>T	NM_021954.4	NP_068773.2:p.(Thr19Met)	NC_000013.10:g.20717372G>A	(Likely) pathogenic	1 lab	8f55dec560
5:66400304 MAST4 TG>T	5	66400304	66400305	TG	T	MAST4	c.691del	NM_015183.3	NP_055998.1:p.(Glu231AsnfsTer27)	NC_000005.9:g.66400305del	VUS	1 lab	8f580fc121
12:4385381 CCND2 C>G	12	4385381	4385381	C	G	CCND2	c.406C>G	NM_001759.4	NP_001750.1:p.(Leu136Val)	NC_000012.11:g.4385381C>G	VUS	1 lab	8f5b08c31c
2:203384776 BMPR2 C>CTT	2	203384776	203384788	C	CTT	BMPR2	c.853-23_853-22dup	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203384787_203384788dup	(Likely) benign	1 lab	8f5b3a72a7
1:26759464 DHDDS T>C	1	26759464	26759464	T	C	DHDDS	c.28T>C	NM_024887.4	NP_079163.2:p.(Ser10Pro)	NC_000001.10:g.26759464T>C	VUS	1 lab	91288c7da7
12:8667894 CLEC4D C>G	12	8667894	8667894	C	G	CLEC4D	c.91C>G	NM_080387.5	NP_525126.2:p.(Leu31Val)	NC_000012.11:g.8667894C>G	VUS	1 lab	8f5ce05c46
17:7752709 KDM6B C>T	17	7752709	7752709	C	T	KDM6B	c.3103C>T	NM_001080424.2	NP_001073893.1:p.(Arg1035Trp)	NC_000017.10:g.7752709C>T	(Likely) benign	1 lab	8f5db05281
18:33719434 ELP2 C>T	18	33719434	33719434	C	T	ELP2	c.576C>T	NM_001242875.3	NP_001229804.1:p.(Ala192=)	NC_000018.9:g.33719434C>T	(Likely) benign	1 lab	8f5e0335e7
18:7040223 LAMA1 C>G	18	7040223	7040223	C	G	LAMA1	c.1274G>C	NM_005559.4	NP_005550.2:p.(Gly425Ala)	NC_000018.9:g.7040223C>G	VUS	1 lab	8f5ea79ac6
2:233655484 GIGYF2 T>A	2	233655484	233655484	T	A	GIGYF2	c.789T>A	NM_001103146.3	NP_001096616.1:p.(Asp263Glu)	NC_000002.11:g.233655484T>A	VUS	1 lab	8f60bb0202
17:8738706 PIK3R6 CG>C	17	8738706	8738707	CG	C	PIK3R6	c.120del	NM_001290211.1	NP_001277140.1:p.(Ile40MetfsTer73)	NC_000017.10:g.8738707del	VUS	1 lab	8f6a7a3dde
13:102521148 FGF14 C>T	13	102521148	102521148	C	T	FGF14	c.335G>A	NM_004115.4	NP_004106.1:p.(Arg112His)	NC_000013.10:g.102521148C>T	VUS	1 lab	8f6e46e47e
1:103468336 COL11A1 A>C	1	103468336	103468336	A	C	COL11A1	c.2046T>G	NM_080629.3	NP_542196.2:p.(Gly682=)	NC_000001.10:g.103468336A>C	(Likely) benign	1 lab	8f718439e2
9:136295290 ADAMTS13 A>C	9	136295290	136295290	A	C	ADAMTS13	c.987+69A>C	NM_139025.5	NP_620594.1:p.?	NC_000009.11:g.136295290A>C	(Likely) benign	1 lab	8f76040272
7:128415195 OPN1SW T>G	7	128415195	128415195	T	G	OPN1SW	c.357A>C	NM_001385125.1	NP_001372054.1:p.(Gly119=)	NC_000007.13:g.128415195T>G	(Likely) benign	1 lab	8f76091f6e
2:152387553 NEB T>C	2	152387553	152387553	T	C	NEB	c.21690A>G	NM_001271208.2	NP_001258137.2:p.(Thr7230=)	NC_000002.11:g.152387553T>C	(Likely) benign	1 lab	8f7770b8aa
12:52912921 KRT5 G>T	12	52912921	52912921	G	T	KRT5	c.579C>A	NM_000424.4	NP_000415.2:p.(Asn193Lys)	NC_000012.11:g.52912921G>T	(Likely) pathogenic	1 lab	8f7bdda2a0
2:179434149 TTN A>G	2	179434149	179434149	A	G	TTN	c.76710T>C	NM_001267550.2	NP_001254479.2:p.(Asn25570=)	NC_000002.11:g.179434149A>G	(Likely) benign	1 lab	8f7f5779ce
10:82033594 MAT1A G>A	10	82033594	82033594	G	A	MAT1A	c.1131C>T	NM_000429.3	NP_000420.1:p.(Tyr377=)	NC_000010.10:g.82033594G>A	(Likely) benign	1 lab	8f86d1c336
7:94229953 SGCE C>T	7	94229953	94229953	C	T	SGCE	c.1037+5G>A	NM_003919.3	NP_003910.1:p.?	NC_000007.13:g.94229953C>T	(Likely) pathogenic	1 lab	8f8859c965
17:76113942 TMC6 C>T	17	76113942	76113942	C	T	TMC6	c.1962G>A	NM_007267.7	NP_009198.4:p.(Thr654=)	NC_000017.10:g.76113942C>T	(Likely) benign	1 lab	8f8d16626a
10:55943184 PCDH15 T>C	10	55943184	55943184	T	C	PCDH15	c.1605+20A>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55943184T>C	(Likely) benign	1 lab	8f8e6cd1bc
1:234744302 IRF2BP2 G>T	1	234744302	234744302	G	T	IRF2BP2	c.939C>A	NM_182972.3	NP_892017.2:p.(His313Gln)	NC_000001.10:g.234744302G>T	VUS	1 lab	8f9203f5da
9:136403503 ADAMTSL2 C>A	9	136403503	136403503	C	A	ADAMTSL2	c.266C>A	NM_001145320.2	NP_001138792.1:p.(Thr89Asn)	NC_000009.11:g.136403503C>A	VUS	1 lab	8f98861af3
2:178098885 NFE2L2 G>A	2	178098885	178098885	G	A	NFE2L2	c.160C>T	NM_006164.5	NP_006155.2:p.(Leu54Phe)	NC_000002.11:g.178098885G>A	VUS	1 lab	8f9e2ae779
14:105858069 PACS2 T>A	14	105858069	105858069	T	A	PACS2	c.2221T>A	NM_001100913.3	NP_001094383.2:p.(Ser741Thr)	NC_000014.8:g.105858069T>A	VUS	1 lab	8f9f0434c8
18:28574450 DSC3 C>T	18	28574450	28574450	C	T	DSC3	c.2506G>A	NM_024423.4	NP_077741.2:p.(Gly836Arg)	NC_000018.9:g.28574450C>T	(Likely) benign	1 lab	8fa4f8ea14
22:36650956 APOL1 G>A	22	36650956	36650956	G	A	APOL1	c.-46G>A	NM_001136540.2	NP_001130012.1:p.?	NC_000022.10:g.36650956G>A	(Likely) benign	1 lab	8fa5e16ebb
X:32380970 DMD C>T	X	32380970	32380970	C	T	DMD	c.5260G>A	NM_004006.3	NP_003997.2:p.(Glu1754Lys)	NC_000023.10:g.32380970C>T	VUS	1 lab	8faa2e7af0
12:32977062 PKP2 C>T	12	32977062	32977062	C	T	PKP2	c.1723G>A	NM_004572.4	NP_004563.2:p.(Ala575Thr)	NC_000012.11:g.32977062C>T	VUS	1 lab	8fafee9013
8:30938552 WRN GAAGTTTT>G	8	30938552	30938561	GAAGTTTT	G	WRN	c.1012_1018del	NM_000553.6	NP_000544.2:p.(Val338PhefsTer15)	NC_000008.10:g.30938555_30938561del	(Likely) pathogenic	1 lab	8fb7ae70f2
15:42479467 VPS39 A>G	15	42479467	42479467	A	G	VPS39	c.567+2T>C	NM_001301138.3	NP_001288067.1:p.?	NC_000015.9:g.42479467A>G	VUS	1 lab	8fba979f47
16:89350418 ANKRD11 G>C	16	89350418	89350418	G	C	ANKRD11	c.2532C>G	NM_013275.6	NP_037407.4:p.(Asp844Glu)	NC_000016.9:g.89350418G>C	VUS	1 lab	8fc1318ed2
13:33635801 KL A>G	13	33635801	33635801	A	G	KL	c.2585A>G	NM_004795.4	NP_004786.2:p.(Lys862Arg)	NC_000013.10:g.33635801A>G	VUS	1 lab	8fc27f9b23
X:2861169 ARSL C>T	X	2861169	2861169	C	T	ARSL	c.1138G>A	NM_001282628.2	NP_001269557.1:p.(Gly380Ser)	NC_000023.10:g.2861169C>T	(Likely) pathogenic	1 lab	8fc9da04bd
19:46268950 SIX5 CCT>C	19	46268950	46268954	CCT	C	SIX5	c.2027_2028del	NM_175875.5	NP_787071.3:p.(Glu676GlyfsTer26)	NC_000019.9:g.46268953_46268954del	VUS	1 lab	8fcd18c420
X:73811336 RLIM G>A	X	73811336	73811336	G	A	RLIM	c.1814C>T	NM_183353.3	NP_899196.1:p.(Ser605Phe)	NC_000023.10:g.73811336G>A	VUS	1 lab	8fce99994f
X:152770328 BGN G>T	X	152770328	152770328	G	T	BGN	c.238+1G>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770328G>T	VUS	1 lab	8fcf9b2bf5
8:105025740 RIMS2 C>T	8	105025740	105025740	C	T	RIMS2	c.2557C>T	NM_014677.5	NP_055492.3:p.(Arg853Trp)	NC_000008.10:g.105025740C>T	VUS	1 lab	8fd39da0cd
8:61742971 CHD7 A>G	8	61742971	61742971	A	G	CHD7	c.3613A>G	NM_017780.4	NP_060250.2:p.(Ile1205Val)	NC_000008.10:g.61742971A>G	(Likely) benign	1 lab	8fd8a76128
7:21805178 DNAH11 A>G	7	21805178	21805178	A	G	DNAH11	c.9073A>G	NM_001277115.2	NP_001264044.1:p.(Arg3025Gly)	NC_000007.13:g.21805178A>G	VUS	1 lab	8fdf85c296
9:139982611 MAN1B1 A>C	9	139982611	139982611	A	C	MAN1B1	c.304A>C	NM_016219.5	NP_057303.2:p.(Ile102Leu)	NC_000009.11:g.139982611A>C	(Likely) benign	1 lab	8fe0993564
18:50918136 DCC C>T	18	50918136	50918136	C	T	DCC	c.2567C>T	NM_005215.4	NP_005206.2:p.(Thr856Ile)	NC_000018.9:g.50918136C>T	VUS	1 lab	8feb93f7eb
12:132414341 PUS1 G>A	12	132414341	132414341	G	A	PUS1	c.74G>A	NM_025215.6	NP_079491.2:p.(Cys25Tyr)	NC_000012.11:g.132414341G>A	VUS	1 lab	8fec55cd22
16:70515355 COG4 C>T	16	70515355	70515355	C	T	COG4	c.2142G>A	NM_015386.3	NP_056201.2:p.(Ser714=)	NC_000016.9:g.70515355C>T	(Likely) benign	1 lab	8fec7b3650
X:118694310 STEEP1 G>A	X	118694310	118694310	G	A	STEEP1	c.163C>T	NM_022101.4	NP_071384.1:p.(Arg55Trp)	NC_000023.10:g.118694310G>A	(Likely) benign	1 lab	900017ec88
15:85405892 ALPK3 A>G	15	85405892	85405892	A	G	ALPK3	c.4156A>G	NM_020778.5	NP_065829.4:p.(Met1386Val)	NC_000015.9:g.85405892A>G	VUS	1 lab	90028d852f
3:37042482 MLH1 A>G	3	37042482	37042482	A	G	MLH1	c.244A>G	NM_000249.4	NP_000240.1:p.(Thr82Ala)	NC_000003.11:g.37042482A>G	(Likely) pathogenic	1 lab	90052cf34c
1:152276377 FLG CT>C	1	152276377	152276378	CT	C	FLG	c.10984del	NM_002016.2	NP_002007.1:p.(Ser3662ValfsTer53)	NC_000001.10:g.152276378del	(Likely) pathogenic	1 lab	90080f3ac5
7:154379784 DPP6 C>T	7	154379784	154379784	C	T	DPP6	c.1052C>T	NM_001290253.2	NP_001277182.1:p.(Ala351Val)	NC_000007.13:g.154379784C>T	VUS	1 lab	900a5f1e02
21:47542846 COL6A2 G>C	21	47542846	47542846	G	C	COL6A2	c.1666G>C	NM_001849.4	NP_001840.3:p.(Glu556Gln)	NC_000021.8:g.47542846G>C	VUS	1 lab	900f2e5aaa
19:13006831 GCDH C>T	19	13006831	13006831	C	T	GCDH	c.531C>T	NM_000159.4	NP_000150.1:p.(Phe177=)	NC_000019.9:g.13006831C>T	(Likely) benign	1 lab	90148c4249
2:48028104 MSH6 C>G	2	48028104	48028104	C	G	MSH6	c.2982C>G	NM_000179.3	NP_000170.1:p.(Tyr994Ter)	NC_000002.11:g.48028104C>G	(Likely) pathogenic	1 lab	9018c5f0cd
15:85345361 ZNF592 C>CAGG	15	85345361	85345377	C	CAGG	ZNF592	c.3555_3557dup	NM_014630.3	NP_055445.2:p.(Glu1188dup)	NC_000015.9:g.85345375_85345377dup	VUS	1 lab	901b6edda5
12:31238075 DDX11 G>A	12	31238075	31238075	G	A	DDX11	c.638+15G>A	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31238075G>A	(Likely) benign	1 lab	901ed68617
1:27877603 AHDC1 C>T	1	27877603	27877603	C	T	AHDC1	c.1024G>A	NM_001029882.3	NP_001025053.1:p.(Asp342Asn)	NC_000001.10:g.27877603C>T	VUS	1 lab	90227f2d35
15:93563404 CHD2 G>A	15	93563404	93563404	G	A	CHD2	c.5069G>A	NM_001271.4	NP_001262.3:p.(Arg1690Gln)	NC_000015.9:g.93563404G>A	VUS	1 lab	9022fa1fe9
17:29509639 NF1 C>A	17	29509639	29509639	C	A	NF1	c.844C>A	NM_000267.3	NP_000258.1:p.(Gln282Lys)	NC_000017.10:g.29509639C>A	VUS	1 lab	902441ab7d
2:85046473 DNAH6 C>T	2	85046473	85046473	C	T	DNAH6	c.12418C>T	NM_001370.2	NP_001361.1:p.(Arg4140Trp)	NC_000002.11:g.85046473C>T	VUS	1 lab	90272e8a28
22:19029352 DGCR2 C>T	22	19029352	19029352	C	T	DGCR2	c.1127G>A	NM_005137.3	NP_005128.1:p.(Arg376Gln)	NC_000022.10:g.19029352C>T	VUS	1 lab	9030344c02
4:73943154 ANKRD17 C>T	4	73943154	73943154	C	T	ANKRD17	c.7166G>A	NM_001286771.3	NP_001273700.1:p.(Arg2389Gln)	NC_000004.11:g.73943154C>T	(Likely) benign	1 lab	903262c3a8
2:179462517 TTN C>A	2	179462517	179462517	C	A	TTN	c.57292G>T	NM_001267550.2	NP_001254479.2:p.(Val19098Phe)	NC_000002.11:g.179462517C>A	VUS	1 lab	903ed5df3d
21:34923842 SON A>G	21	34923842	34923842	A	G	SON	c.2305A>G	NM_032195.3	NP_115571.3:p.(Ser769Gly)	NC_000021.8:g.34923842A>G	VUS	1 lab	903f4f11bc
18:34267108 FHOD3 AAAGAG>A	18	34267108	34267114	AAAGAG	A	FHOD3	c.1465_1469del	NM_025135.5	NP_079411.2:p.(Arg489GlyfsTer19)	NC_000018.9:g.34267110_34267114del	VUS	1 lab	9041991e97
6:33272979 TAPBP C>T	6	33272979	33272979	C	T	TAPBP	c.655G>A	NM_003190.5	NP_003181.3:p.(Ala219Thr)	NC_000006.11:g.33272979C>T	VUS	1 lab	9041bb3999
18:21427556 LAMA3 G>A	18	21427556	21427556	G	A	LAMA3	c.4060G>A	NM_198129.4	NP_937762.2:p.(Glu1354Lys)	NC_000018.9:g.21427556G>A	(Likely) benign	1 lab	9045da44ba
1:36379464 AGO1 A>G	1	36379464	36379464	A	G	AGO1	c.1604A>G	NM_012199.5	NP_036331.1:p.(Asp535Gly)	NC_000001.10:g.36379464A>G	VUS	1 lab	9046c6a49c
6:32725062 HLA-DQB2 T>A	6	32725062	32725062	T	A	HLA-DQB2	c.666A>T	NM_001198858.2	NP_001185787.1:p.(Pro222=)	NC_000006.11:g.32725062T>A	(Likely) benign	1 lab	904acb8054
8:30702204 TEX15 C>T	8	30702204	30702204	C	T	TEX15	c.5479G>A	NM_001350162.2	NP_001337091.1:p.(Gly1827Ser)	NC_000008.10:g.30702204C>T	VUS	1 lab	904c671279
6:160106070 SOD2 TA>T	6	160106070	160106080	TA	T	SOD2	c.344-6del	NM_000636.4	NP_000627.2:p.?	NC_000006.11:g.160106080del	(Likely) benign	1 lab	904d74f16f
13:52513198 ATP7B T>C	13	52513198	52513198	T	C	ATP7B	c.3688A>G	NM_000053.4	NP_000044.2:p.(Ile1230Val)	NC_000013.10:g.52513198T>C	VUS	1 lab	905063f963
2:47703606 MSH2 G>A	2	47703606	47703606	G	A	MSH2	c.2106G>A	NM_000251.3	NP_000242.1:p.(Val702=)	NC_000002.11:g.47703606G>A	(Likely) benign	1 lab	9052beea72
3:181430166 SOX2 G>GAC	3	181430166	181430168	G	GAC	SOX2	c.19_20dup	NM_003106.4	NP_003097.1:p.(Glu8ArgfsTer3)	NC_000003.11:g.181430167_181430168dup	(Likely) pathogenic	1 lab	905a48f0ef
21:34926237 SON T>G	21	34926237	34926237	T	G	SON	c.4700T>G	NM_032195.3	NP_115571.3:p.(Leu1567Trp)	NC_000021.8:g.34926237T>G	(Likely) benign	1 lab	90627306bd
16:89347951 ANKRD11 T>G	16	89347951	89347951	T	G	ANKRD11	c.4999A>C	NM_013275.6	NP_037407.4:p.(Lys1667Gln)	NC_000016.9:g.89347951T>G	VUS	1 lab	906437870a
5:150901482 FAT2 G>C	5	150901482	150901482	G	C	FAT2	c.10672C>G	NM_001447.3	NP_001438.1:p.(Arg3558Gly)	NC_000005.9:g.150901482G>C	VUS	1 lab	90686425ad
2:179473636 TTN CTAA>C	2	179473636	179473641	CTAA	C	TTN	c.52103-4_52103-2del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179473639_179473641del	VUS	1 lab	906b241bdb
5:38933455 OSMR C>A	5	38933455	38933455	C	A	OSMR	c.2849C>A	NM_003999.3	NP_003990.1:p.(Ala950Glu)	NC_000005.9:g.38933455C>A	(Likely) benign	1 lab	907cae6295
X:128599852 SMARCA1 C>T	X	128599852	128599852	C	T	SMARCA1	c.2786G>A	NM_003069.5	NP_003060.2:p.(Arg929Lys)	NC_000023.10:g.128599852C>T	VUS	1 lab	907d29fff8
22:21350312 LZTR1 C>T	22	21350312	21350312	C	T	LZTR1	c.2130C>T	NM_006767.4	NP_006758.2:p.(Ile710=)	NC_000022.10:g.21350312C>T	(Likely) benign	1 lab	9089bbf98d
15:27185203 GABRA5 G>A	15	27185203	27185203	G	A	GABRA5	c.856G>A	NM_000810.4	NP_000801.1:p.(Val286Ile)	NC_000015.9:g.27185203G>A	(Likely) benign	1 lab	908b2d30ee
14:50667727 SOS2 G>A	14	50667727	50667727	G	A	SOS2	c.289C>T	NM_006939.4	NP_008870.2:p.(Arg97Ter)	NC_000014.8:g.50667727G>A	VUS	1 lab	9097b676dd
19:50902212 POLD1 A>T	19	50902212	50902212	A	T	POLD1	c.104A>T	NM_001256849.1	NP_001243778.1:p.(Glu35Val)	NC_000019.9:g.50902212A>T	VUS	1 lab	909ace5200
1:59150875 MYSM1 G>A	1	59150875	59150875	G	A	MYSM1	c.448C>T	NM_001085487.3	NP_001078956.1:p.(Arg150Cys)	NC_000001.10:g.59150875G>A	VUS	1 lab	90a98d9bae
3:77657066 ROBO2 C>T	3	77657066	77657066	C	T	ROBO2	c.3266C>T	NM_001290040.2	NP_001276969.1:p.(Thr1089Met)	NC_000003.11:g.77657066C>T	VUS	1 lab	90ab73c96d
2:179429649 TTN A>T	2	179429649	179429649	A	T	TTN	c.81210T>A	NM_001267550.2	NP_001254479.2:p.(Phe27070Leu)	NC_000002.11:g.179429649A>T	VUS	1 lab	90ac4ef5ac
11:47354514 MYBPC3 G>A	11	47354514	47354514	G	A	MYBPC3	c.3341C>T	NM_000256.3	NP_000247.2:p.(Thr1114Ile)	NC_000011.9:g.47354514G>A	VUS	1 lab	90afade3d5
10:95072842 MYOF C>T	10	95072842	95072842	C	T	MYOF	c.5824G>A	NM_013451.4	NP_038479.1:p.(Glu1942Lys)	NC_000010.10:g.95072842C>T	VUS	1 lab	90b0357492
10:81319423 SFTPA2 C>T	10	81319423	81319423	C	T	SFTPA2	c.-23-161G>A	NM_001098668.4	NP_001092138.1:p.?	NC_000010.10:g.81319423C>T	(Likely) benign	1 lab	90b13d97c9
X:70361097 MED12 A>ACAG	X	70361097	70361120	A	ACAG	MED12	c.6306_6308dup	NM_005120.3	NP_005111.2:p.(Gln2115dup)	NC_000023.10:g.70361118_70361120dup	(Likely) benign	1 lab	90b1a3298b
14:50118060 POLE2 C>T	14	50118060	50118060	C	T	POLE2	c.1247G>A	NM_002692.4	NP_002683.2:p.(Arg416His)	NC_000014.8:g.50118060C>T	VUS	1 lab	90b4f888cb
6:129419474 LAMA2 C>T	6	129419474	129419474	C	T	LAMA2	c.553C>T	NM_000426.4	NP_000417.3:p.(Arg185Cys)	NC_000006.11:g.129419474C>T	VUS	1 lab	90b55a3af0
9:141014762 CACNA1B G>T	9	141014762	141014762	G	T	CACNA1B	c.6176G>T	NM_000718.4	NP_000709.1:p.(Arg2059Leu)	NC_000009.11:g.141014762G>T	VUS	1 lab	90b7fe9dc6
14:91883967 CCDC88C G>T	14	91883967	91883967	G	T	CCDC88C	c.60+8C>A	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91883967G>T	(Likely) benign	1 lab	90b93deb88
17:17125995 FLCN G>A	17	17125995	17125995	G	A	FLCN	c.619-20C>T	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17125995G>A	(Likely) benign	1 lab	90bdd698a4
18:28972244 DSG4 A>G	18	28972244	28972244	A	G	DSG4	c.946A>G	NM_177986.5	NP_817123.1:p.(Asn316Asp)	NC_000018.9:g.28972244A>G	VUS	1 lab	90c35dd200
X:32407710 DMD T>C	X	32407710	32407710	T	C	DMD	c.4426A>G	NM_004006.3	NP_003997.2:p.(Met1476Val)	NC_000023.10:g.32407710T>C	VUS	1 lab	90c56649f8
12:52308244 ACVRL1 T>C	12	52308244	52308244	T	C	ACVRL1	c.647T>C	NM_000020.3	NP_000011.2:p.(Val216Ala)	NC_000012.11:g.52308244T>C	VUS	1 lab	90c7853de1
22:38512181 PLA2G6 C>T	22	38512181	38512181	C	T	PLA2G6	c.1780G>A	NM_003560.4	NP_003551.2:p.(Ala594Thr)	NC_000022.10:g.38512181C>T	(Likely) pathogenic	1 lab	90c8b60516
22:26862212 HPS4 T>C	22	26862212	26862212	T	C	HPS4	c.686A>G	NM_022081.6	NP_071364.4:p.(Glu229Gly)	NC_000022.10:g.26862212T>C	(Likely) benign	1 lab	90ca011c17
14:50626719 SOS2 C>T	14	50626719	50626719	C	T	SOS2	c.1282G>A	NM_006939.4	NP_008870.2:p.(Asp428Asn)	NC_000014.8:g.50626719C>T	VUS	1 lab	90ca350eb7
9:6604637 GLDC G>A	9	6604637	6604637	G	A	GLDC	c.1009C>T	NM_000170.3	NP_000161.2:p.(Arg337Ter)	NC_000009.11:g.6604637G>A	(Likely) pathogenic	1 lab	90cbe152b5
22:19882661 TXNRD2 C>A	22	19882661	19882661	C	A	TXNRD2	c.1012G>T	NM_001282512.3	NP_001269441.1:p.(Asp338Tyr)	NC_000022.10:g.19882661C>A	VUS	1 lab	90ce7acb8e
1:3329058 PRDM16 G>C	1	3329058	3329058	G	C	PRDM16	c.2297G>C	NM_022114.4	NP_071397.3:p.(Gly766Ala)	NC_000001.10:g.3329058G>C	VUS	1 lab	90d1707be1
7:103629764 RELN C>T	7	103629764	103629764	C	T	RELN	c.40G>A	NM_005045.4	NP_005036.2:p.(Ala14Thr)	NC_000007.13:g.103629764C>T	VUS	1 lab	90d36b963b
15:48720009 FBN1 AT>A	15	48720009	48720013	AT	A	FBN1	c.6998-40del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720013del	(Likely) benign	1 lab	90d4b274fa
5:122426229 PRDM6 G>A	5	122426229	122426229	G	A	PRDM6	c.520G>A	NM_001136239.4	NP_001129711.1:p.(Asp174Asn)	NC_000005.9:g.122426229G>A	(Likely) benign	1 lab	90d8eb0c3f
18:55322586 ATP8B1 T>C	18	55322586	55322586	T	C	ATP8B1	c.2771A>G	NM_005603.6	NP_005594.2:p.(Tyr924Cys)	NC_000018.9:g.55322586T>C	VUS	1 lab	90d9e7e490
2:109383062 RANBP2 G>A	2	109383062	109383062	G	A	RANBP2	c.6067G>A	NM_006267.5	NP_006258.3:p.(Val2023Ile)	NC_000002.11:g.109383062G>A	VUS	1 lab	90dc9d5b08
X:99663399 PCDH19 T>C	X	99663399	99663399	T	C	PCDH19	c.197A>G	NM_001184880.2	NP_001171809.1:p.(Asn66Ser)	NC_000023.10:g.99663399T>C	VUS	1 lab	90dcc0f3b8
2:109513442 EDAR G>T	2	109513442	109513442	G	T	EDAR	c.1268C>A	NM_022336.4	NP_071731.1:p.(Ala423Asp)	NC_000002.11:g.109513442G>T	(Likely) pathogenic	1 lab	90dd73a81d
10:12142266 DHTKD1 G>T	10	12142266	12142266	G	T	DHTKD1	c.1756+5G>T	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142266G>T	(Likely) benign	1 lab	90de151a56
17:41245157 BRCA1 TTC>T	17	41245157	41245160	TTC	T	BRCA1	c.2389_2390del	NM_007294.4	NP_009225.1:p.(Glu797ThrfsTer3)	NC_000017.10:g.41245159_41245160del	(Likely) pathogenic	1 lab	90e0429443
2:165948811 SCN3A A>G	2	165948811	165948811	A	G	SCN3A	c.4760T>C	NM_006922.4	NP_008853.3:p.(Ile1587Thr)	NC_000002.11:g.165948811A>G	VUS	1 lab	90e30f072c
20:62324221 RTEL1 G>A	20	62324221	62324221	G	A	RTEL1	c.2788G>A	NM_032957.5	NP_116575.3:p.(Glu930Lys)	NC_000020.10:g.62324221G>A	VUS	1 lab	90e587732e
17:29490235 NF1 CGATGCTGGTCAAACAGTTGCTGCCA>C	17	29490235	29490262	CGATGCTGGTCAAACAGTTGCTGCCA	C	NF1	c.323_347del	NM_000267.3	NP_000258.1:p.(Met108LysfsTer49)	NC_000017.10:g.29490238_29490262del	(Likely) pathogenic	1 lab	90f0b7406e
2:47708011 MSH2 G>C	2	47708011	47708011	G	C	MSH2	c.2634+1G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47708011G>C	(Likely) pathogenic	1 lab	90f2811041
1:209795957 LAMB3 G>A	1	209795957	209795957	G	A	LAMB3	c.2625C>T	NM_000228.3	NP_000219.2:p.(Ser875=)	NC_000001.10:g.209795957G>A	(Likely) benign	1 lab	90f312521c
10:102257827 SEC31B G>C	10	102257827	102257827	G	C	SEC31B	c.1822C>G	NM_015490.4	NP_056305.1:p.(Gln608Glu)	NC_000010.10:g.102257827G>C	VUS	1 lab	90f546282e
6:56716212 DST G>A	6	56716212	56716212	G	A	DST	c.608C>T	NM_001374736.1	NP_001361665.1:p.(Ala203Val)	NC_000006.11:g.56716212G>A	VUS	1 lab	90f76edfc7
2:113496616 CKAP2L C>T	2	113496616	113496616	C	T	CKAP2L	c.1527G>A	NM_001304361.2	NP_001291290.1:p.(Gly509=)	NC_000002.11:g.113496616C>T	(Likely) benign	1 lab	90f8e53c4a
14:50133106 POLE2 C>T	14	50133106	50133106	C	T	POLE2	c.518G>A	NM_002692.4	NP_002683.2:p.(Gly173Asp)	NC_000014.8:g.50133106C>T	VUS	1 lab	90ffd4da58
7:158480080 NCAPG2 T>C	7	158480080	158480080	T	C	NCAPG2	c.727A>G	NM_017760.7	NP_060230.5:p.(Ile243Val)	NC_000007.13:g.158480080T>C	VUS	1 lab	910268b916
10:104263979 SUFU C>G	10	104263979	104263979	C	G	SUFU	c.70C>G	NM_016169.4	NP_057253.2:p.(Pro24Ala)	NC_000010.10:g.104263979C>G	VUS	1 lab	9103b409d4
7:117175354 CFTR T>C	7	117175354	117175354	T	C	CFTR	c.632T>C	NM_000492.4	NP_000483.3:p.(Leu211Pro)	NC_000007.13:g.117175354T>C	(Likely) pathogenic	1 lab	910635b98d
X:32408197 DMD A>G	X	32408197	32408197	A	G	DMD	c.4335T>C	NM_004006.3	NP_003997.2:p.(Asp1445=)	NC_000023.10:g.32408197A>G	(Likely) benign	1 lab	91076e2cfc
12:7053031 RNU7-1 G>A	12	7053031	7053031	G	A	RNU7-1	n.53G>A	NR_023317.1		NC_000012.11:g.7053031G>A	VUS	1 lab	9108a981cd
14:24619909 RNF31 C>T	14	24619909	24619909	C	T	RNF31	c.1300C>T	NM_017999.5	NP_060469.4:p.(Arg434Trp)	NC_000014.8:g.24619909C>T	VUS	1 lab	910bbd13c0
21:44475877 CBS C>T	21	44475877	44475877	C	T	CBS	c.1552+1036G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44475877C>T	(Likely) benign	1 lab	910d5978ae
X:147010263 FMR1 A>C	X	147010263	147010263	A	C	FMR1	c.357A>C	NM_002024.6	NP_002015.1:p.(Lys119Asn)	NC_000023.10:g.147010263A>C	(Likely) benign	1 lab	910d9c6b91
21:33066575 SCAF4 G>C	21	33066575	33066575	G	C	SCAF4	c.1264C>G	NM_020706.2	NP_065757.1:p.(Gln422Glu)	NC_000021.8:g.33066575G>C	VUS	1 lab	910e4d11b0
19:855642 ELANE G>A	19	855642	855642	G	A	ELANE	c.445G>A	NM_001972.4	NP_001963.1:p.(Val149Met)	NC_000019.9:g.855642G>A	VUS	1 lab	911182b8ac
13:32929353 BRCA2 C>G	13	32929353	32929353	C	G	BRCA2	c.7363C>G	NM_000059.4	NP_000050.3:p.(His2455Asp)	NC_000013.10:g.32929353C>G	VUS	1 lab	911279242d
14:36153160 RALGAPA1 C>T	14	36153160	36153160	C	T	RALGAPA1	c.2808G>A	NM_014990.3	NP_055805.1:p.(Thr936=)	NC_000014.8:g.36153160C>T	(Likely) benign	1 lab	911291d15e
10:68313761 CTNNA3 T>C	10	68313761	68313761	T	C	CTNNA3	c.1375-33230A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68313761T>C	VUS	1 lab	911303099f
2:241680698 KIF1A T>C	2	241680698	241680698	T	C	KIF1A	c.3434A>G	NM_004321.8	NP_004312.2:p.(Glu1145Gly)	NC_000002.11:g.241680698T>C	VUS	1 lab	9114e17067
8:61765242 CHD7 G>A	8	61765242	61765242	G	A	CHD7	c.6080G>A	NM_017780.4	NP_060250.2:p.(Arg2027Gln)	NC_000008.10:g.61765242G>A	(Likely) benign	1 lab	9118171c52
11:22261140 ANO5 C>T	11	22261140	22261140	C	T	ANO5	c.788C>T	NM_213599.3	NP_998764.1:p.(Pro263Leu)	NC_000011.9:g.22261140C>T	VUS	1 lab	911ef867da
13:49027166 RB1 AC>A	13	49027166	49027168	AC	A	RB1	c.1735del	NM_000321.3	NP_000312.2:p.(Arg579GlufsTer32)	NC_000013.10:g.49027168del	(Likely) pathogenic	1 lab	912435058e
2:179447261 TTN C>T	2	179447261	179447261	C	T	TTN	c.65922G>A	NM_001267550.2	NP_001254479.2:p.(Met21974Ile)	NC_000002.11:g.179447261C>T	(Likely) benign	1 lab	91264a8d03
2:179435849 TTN G>C	2	179435849	179435849	G	C	TTN	c.75010C>G	NM_001267550.2	NP_001254479.2:p.(Arg25004Gly)	NC_000002.11:g.179435849G>C	VUS	1 lab	9126a46e01
13:48951169 RB1 A>G	13	48951169	48951169	A	G	RB1	c.1331A>G	NM_000321.3	NP_000312.2:p.(Gln444Arg)	NC_000013.10:g.48951169A>G	(Likely) pathogenic	1 lab	9129a987f9
14:76211557 TTLL5 G>T	14	76211557	76211557	G	T	TTLL5	c.1395+6G>T	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76211557G>T	(Likely) benign	1 lab	912e03c01d
7:127892171 LEP C>T	7	127892171	127892171	C	T	LEP	c.100C>T	NM_000230.3	NP_000221.1:p.(Leu34Phe)	NC_000007.13:g.127892171C>T	VUS	1 lab	9131f89b66
2:31588936 XDH T>A	2	31588936	31588936	T	A	XDH	c.2362A>T	NM_000379.4	NP_000370.2:p.(Ile788Phe)	NC_000002.11:g.31588936T>A	VUS	1 lab	9132fabc13
13:32936709 BRCA2 TG>T	13	32936709	32936712	TG	T	BRCA2	c.7858del	NM_000059.4	NP_000050.3:p.(Val2620PhefsTer28)	NC_000013.10:g.32936712del	(Likely) pathogenic	1 lab	91366b763f
17:41245420 BRCA1 T>TTC	17	41245420	41245421	T	TTC	BRCA1	c.2127_2128insGA	NM_007294.4	NP_009225.1:p.(Thr710GlufsTer27)	NC_000017.10:g.41245420_41245421insTC	(Likely) pathogenic	1 lab	9136eaaeaf
6:42932202 PEX6 C>T	6	42932202	42932202	C	T	PEX6	c.2814G>A	NM_000287.4	NP_000278.3:p.(Glu938=)	NC_000006.11:g.42932202C>T	(Likely) benign	1 lab	913be95a94
2:109513520 EDAR A>G	2	109513520	109513520	A	G	EDAR	c.1190T>C	NM_022336.4	NP_071731.1:p.(Leu397Pro)	NC_000002.11:g.109513520A>G	(Likely) pathogenic	1 lab	913da3ad10
5:13865784 DNAH5 G>A	5	13865784	13865784	G	A	DNAH5	c.4348C>T	NM_001369.3	NP_001360.1:p.(Gln1450Ter)	NC_000005.9:g.13865784G>A	(Likely) pathogenic	1 lab	914084ba20
11:72145149 CLPB C>A	11	72145149	72145149	C	A	CLPB	c.370G>T	NM_030813.6	NP_110440.1:p.(Val124Phe)	NC_000011.9:g.72145149C>A	VUS	1 lab	9149e4318b
9:140772484 CACNA1B T>G	9	140772484	140772484	T	G	CACNA1B	c.99T>G	NM_000718.4	NP_000709.1:p.(Gly33=)	NC_000009.11:g.140772484T>G	(Likely) benign	1 lab	914c1e224c
17:17701075 RAI1 GACGCGTTCACC>G	17	17701075	17701088	GACGCGTTCACC	G	RAI1	c.4816_4826del	NM_030665.4	NP_109590.3:p.(Ala1606HisfsTer100)	NC_000017.10:g.17701078_17701088del	(Likely) pathogenic	1 lab	914d6bf389
17:8397154 MYH10 A>G	17	8397154	8397154	A	G	MYH10	c.4106T>C	NM_001256012.3	NP_001242941.1:p.(Ile1369Thr)	NC_000017.10:g.8397154A>G	VUS	1 lab	914f361c5e
17:56772375 RAD51C G>T	17	56772375	56772375	G	T	RAD51C	c.229G>T	NM_058216.3	NP_478123.1:p.(Gly77Cys)	NC_000017.10:g.56772375G>T	VUS	1 lab	9151fe1365
13:96242572 DZIP1 C>T	13	96242572	96242572	C	T	DZIP1	c.1804G>A	NM_198968.4	NP_945319.1:p.(Val602Ile)	NC_000013.10:g.96242572C>T	VUS	1 lab	91567980b3
4:85742698 WDFY3 C>T	4	85742698	85742698	C	T	WDFY3	c.1130G>A	NM_014991.6	NP_055806.2:p.(Ser377Asn)	NC_000004.11:g.85742698C>T	VUS	1 lab	915beda121
18:50923771 DCC T>C	18	50923771	50923771	T	C	DCC	c.2782T>C	NM_005215.4	NP_005206.2:p.(Ser928Pro)	NC_000018.9:g.50923771T>C	VUS	1 lab	915c71f326
1:63063323 ANGPTL3 T>C	1	63063323	63063323	T	C	ANGPTL3	c.86T>C	NM_014495.4	NP_055310.1:p.(Leu29Pro)	NC_000001.10:g.63063323T>C	VUS	1 lab	915d03abcb
3:71027182 FOXP1 T>G	3	71027182	71027182	T	G	FOXP1	c.1147-2A>C	NM_032682.6	NP_116071.2:p.?	NC_000003.11:g.71027182T>G	(Likely) pathogenic	1 lab	915ea0d1e6
2:179447849 TTN G>A	2	179447849	179447849	G	A	TTN	c.65681C>T	NM_001267550.2	NP_001254479.2:p.(Thr21894Ile)	NC_000002.11:g.179447849G>A	VUS	1 lab	91600cb40b
14:105418293 AHNAK2 C>A	14	105418293	105418293	C	A	AHNAK2	c.3495G>T	NM_138420.4	NP_612429.2:p.(Met1165Ile)	NC_000014.8:g.105418293C>A	(Likely) benign	1 lab	916132aac5
1:161326585 SDHC T>C	1	161326585	161326585	T	C	SDHC	c.360T>C	NM_003001.5	NP_002992.1:p.(Leu120=)	NC_000001.10:g.161326585T>C	(Likely) benign	1 lab	9161fd6c4e
17:41245072 BRCA1 TG>T	17	41245072	41245073	TG	T	BRCA1	c.2475del	NM_007294.4	NP_009225.1:p.(Asp825GlufsTer21)	NC_000017.10:g.41245073del	(Likely) pathogenic	1 lab	9167b298a7
22:18905825 PRODH G>A	22	18905825	18905825	G	A	PRODH	c.1427+4C>T	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18905825G>A	(Likely) benign	1 lab	916919108d
19:41349884 CYP2A6 TGAGGAG>T	19	41349884	41349893	TGAGGAG	T	CYP2A6	c.1304-8_1304-3del	NM_000762.6	NP_000753.3:p.?	NC_000019.9:g.41349888_41349893del	(Likely) benign	1 lab	916b38c73f
19:49686171 TRPM4 G>T	19	49686171	49686171	G	T	TRPM4	c.1600G>T	NM_017636.4	NP_060106.2:p.(Gly534Trp)	NC_000019.9:g.49686171G>T	VUS	1 lab	916d597489
17:66511643 PRKAR1A A>G	17	66511643	66511643	A	G	PRKAR1A	c.103A>G	NM_002734.5	NP_002725.1:p.(Ile35Val)	NC_000017.10:g.66511643A>G	(Likely) benign	1 lab	917675602b
6:152697604 SYNE1 C>T	6	152697604	152697604	C	T	SYNE1	c.9257G>A	NM_033071.4	NP_149062.2:p.(Trp3086Ter)	NC_000006.11:g.152697604C>T	(Likely) pathogenic	1 lab	9176ac40b8
7:39990353 CDK13 C>A	7	39990353	39990353	C	A	CDK13	c.113C>A	NM_003718.5	NP_003709.3:p.(Pro38Gln)	NC_000007.13:g.39990353C>A	VUS	1 lab	917883cbaa
12:32955384 PKP2 G>C	12	32955384	32955384	G	C	PKP2	c.2252C>G	NM_004572.4	NP_004563.2:p.(Ser751Trp)	NC_000012.11:g.32955384G>C	VUS	1 lab	917915bb41
X:153129350 L1CAM C>T	X	153129350	153129350	C	T	L1CAM	c.3445G>A	NM_000425.5	NP_000416.1:p.(Gly1149Ser)	NC_000023.10:g.153129350C>T	VUS	1 lab	9179eccae2
X:19367469 PDHA1 G>C	X	19367469	19367469	G	C	PDHA1	c.97G>C	NM_000284.4	NP_000275.1:p.(Asp33His)	NC_000023.10:g.19367469G>C	(Likely) benign	1 lab	917cfdda7d
6:157099679 ARID1B G>A	6	157099679	157099679	G	A	ARID1B	c.865G>A	NM_001371656.1	NP_001358585.1:p.(Gly289Ser)	NC_000006.11:g.157099679G>A	(Likely) benign	1 lab	917f35b6dd
9:732577 KANK1 G>A	9	732577	732577	G	A	KANK1	c.3205G>A	NM_015158.5	NP_055973.2:p.(Val1069Ile)	NC_000009.11:g.732577G>A	VUS	1 lab	917f6648fb
10:69881400 MYPN CAAG>C	10	69881400	69881408	CAAG	C	MYPN	c.211_213del	NM_032578.4	NP_115967.2:p.(Glu71del)	NC_000010.10:g.69881406_69881408del	VUS	1 lab	9181e786cd
8:145011389 PLEC G>A	8	145011389	145011389	G	A	PLEC	c.367C>T	NM_000445.5	NP_000436.2:p.(Arg123Cys)	NC_000008.10:g.145011389G>A	VUS	1 lab	9182bf63c8
4:85605204 WDFY3 G>C	4	85605204	85605204	G	C	WDFY3	c.9618C>G	NM_014991.6	NP_055806.2:p.(Asn3206Lys)	NC_000004.11:g.85605204G>C	VUS	1 lab	91833ba0fe
11:2639226 KCNQ1OT1 T>C	11	2639226	2639226	T	C	KCNQ1OT1	n.82003A>G	NR_002728.3		NC_000011.9:g.2639226T>C	VUS	1 lab	918905ec2a
14:100705984 YY1 G>T	14	100705984	100705984	G	T	YY1	c.403G>T	NM_003403.5	NP_003394.1:p.(Val135Leu)	NC_000014.8:g.100705984G>T	VUS	1 lab	9191b71bb5
17:7798395 CHD3 C>T	17	7798395	7798395	C	T	CHD3	c.1607C>T	NM_001005271.3	NP_001005271.2:p.(Ser536Phe)	NC_000017.10:g.7798395C>T	VUS	1 lab	91964a9de1
12:63964640 DPY19L2 GA>G	12	63964640	63964652	GA	G	DPY19L2	c.1901-4del	NM_173812.5	NP_776173.3:p.?	NC_000012.11:g.63964652del	(Likely) benign	1 lab	919caea4cb
10:92675927 ANKRD1 C>T	10	92675927	92675927	C	T	ANKRD1	c.651+1G>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675927C>T	VUS	1 lab	919d2bce3a
12:53703021 AAAS G>A	12	53703021	53703021	G	A	AAAS	c.855C>T	NM_015665.6	NP_056480.1:p.(Phe285=)	NC_000012.11:g.53703021G>A	(Likely) benign	1 lab	919f80d8f6
13:32913794 BRCA2 CTT>C	13	32913794	32913796	CTT	C	BRCA2	c.5303_5304del	NM_000059.4	NP_000050.3:p.(Leu1768ArgfsTer5)	NC_000013.10:g.32913795_32913796del	(Likely) pathogenic	1 lab	91a55267b0
X:10188806 CLCN4 G>A	X	10188806	10188806	G	A	CLCN4	c.2081G>A	NM_001830.4	NP_001821.2:p.(Arg694Gln)	NC_000023.10:g.10188806G>A	VUS	1 lab	91a55c1e03
19:621191 POLRMT TGCGGGCCGA>T	19	621191	621206	TGCGGGCCGA	T	POLRMT	c.2498_2506del	NM_005035.4	NP_005026.3:p.(Leu833_Pro835del)	NC_000019.9:g.621198_621206del	VUS	1 lab	91a8cedd2d
10:61665886 CCDC6 C>A	10	61665886	61665886	C	A	CCDC6	c.297G>T	NM_005436.5	NP_005427.2:p.(Val99=)	NC_000010.10:g.61665886C>A	(Likely) benign	1 lab	91ad24bfe5
16:1912069 MEIOB G>A	16	1912069	1912069	G	A	MEIOB	c.176C>T	NM_001163560.3	NP_001157032.1:p.(Pro59Leu)	NC_000016.9:g.1912069G>A	VUS	1 lab	91b21c02a4
3:71096223 FOXP1 C>A	3	71096223	71096223	C	A	FOXP1	c.534G>T	NM_032682.6	NP_116071.2:p.(Gln178His)	NC_000003.11:g.71096223C>A	VUS	1 lab	91b4536106
4:2824685 SH3BP2 C>A	4	2824685	2824685	C	A	SH3BP2	c.244C>A	NM_001145855.2	NP_001139327.1:p.(His82Asn)	NC_000004.11:g.2824685C>A	VUS	1 lab	91b454b9be
17:29587499 NF1 C>T	17	29587499	29587499	C	T	NF1	c.4480C>T	NM_000267.3	NP_000258.1:p.(Gln1494Ter)	NC_000017.10:g.29587499C>T	(Likely) pathogenic	1 lab	91b5ee7864
12:117705934 NOS1 T>A	12	117705934	117705934	T	A	NOS1	c.1855A>T	NM_000620.5	NP_000611.1:p.(Met619Leu)	NC_000012.11:g.117705934T>A	VUS	1 lab	91bbf7378b
X:28807519 IL1RAPL1 A>G	X	28807519	28807519	A	G	IL1RAPL1	c.59A>G	NM_014271.4	NP_055086.1:p.(Lys20Arg)	NC_000023.10:g.28807519A>G	VUS	1 lab	91bcf11672
17:59770863 BRIP1 G>A	17	59770863	59770863	G	A	BRIP1	c.2503C>T	NM_032043.3	NP_114432.2:p.(His835Tyr)	NC_000017.10:g.59770863G>A	VUS	1 lab	91be5a51ba
1:237890399 RYR2 C>T	1	237890399	237890399	C	T	RYR2	c.10738C>T	NM_001035.3	NP_001026.2:p.(Gln3580Ter)	NC_000001.10:g.237890399C>T	VUS	1 lab	91bec3635a
1:7848287 PER3 G>A	1	7848287	7848287	G	A	PER3	c.573G>A	NM_016831.4	NP_058515.1:p.(Trp191Ter)	NC_000001.10:g.7848287G>A	VUS	1 lab	91c70d1141
2:207637053 FASTKD2 A>C	2	207637053	207637053	A	C	FASTKD2	c.1254+9A>C	NM_014929.4	NP_055744.2:p.?	NC_000002.11:g.207637053A>C	(Likely) benign	1 lab	91cae152f9
2:48061741 FBXO11 G>C	2	48061741	48061741	G	C	FBXO11	c.911C>G	NM_001190274.2	NP_001177203.1:p.(Ser304Cys)	NC_000002.11:g.48061741G>C	VUS	1 lab	91cc8abce1
9:98231263 PTCH1 C>T	9	98231263	98231263	C	T	PTCH1	c.2020G>A	NM_000264.5	NP_000255.2:p.(Val674Met)	NC_000009.11:g.98231263C>T	VUS	1 lab	91d41e3824
11:71146248 DHCR7 AAGCAAGGAACAG>A	11	71146248	71146263	AAGCAAGGAACAG	A	DHCR7	c.*161_*172del	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71146252_71146263del	(Likely) benign	1 lab	91d5d1b584
2:189875405 COL3A1 A>C	2	189875405	189875405	A	C	COL3A1	c.4043A>C	NM_000090.4	NP_000081.2:p.(Asp1348Ala)	NC_000002.11:g.189875405A>C	VUS	1 lab	91d77b9765
1:3321425 PRDM16 G>A	1	3321425	3321425	G	A	PRDM16	c.1007G>A	NM_022114.4	NP_071397.3:p.(Arg336His)	NC_000001.10:g.3321425G>A	VUS	1 lab	91da7eabf6
11:22239823 ANO5 G>A	11	22239823	22239823	G	A	ANO5	c.170G>A	NM_213599.3	NP_998764.1:p.(Arg57Gln)	NC_000011.9:g.22239823G>A	VUS	1 lab	91db124ccf
2:128044351 ERCC3 C>T	2	128044351	128044351	C	T	ERCC3	c.1270G>A	NM_000122.2	NP_000113.1:p.(Glu424Lys)	NC_000002.11:g.128044351C>T	VUS	1 lab	91dbe77ffa
5:14492754 TRIO A>T	5	14492754	14492754	A	T	TRIO	c.7711A>T	NM_007118.4	NP_009049.2:p.(Asn2571Tyr)	NC_000005.9:g.14492754A>T	VUS	1 lab	91ddec8694
2:179470002 TTN G>A	2	179470002	179470002	G	A	TTN	c.48979C>T	NM_001256850.1	NP_001243779.1:p.(Arg16327Cys)	NC_000002.11:g.179470002G>A	VUS	1 lab	91de0aec77
7:101844697 CUX1 G>A	7	101844697	101844697	G	A	CUX1	c.2153G>A	NM_001202543.2	NP_001189472.1:p.(Arg718His)	NC_000007.13:g.101844697G>A	VUS	1 lab	91e07c7b1f
11:66468203 SPTBN2 G>A	11	66468203	66468203	G	A	SPTBN2	c.3367C>T	NM_006946.4	NP_008877.2:p.(Arg1123Trp)	NC_000011.9:g.66468203G>A	VUS	1 lab	91e09bf5f5
2:98709614 VWA3B G>T	2	98709614	98709614	G	T	VWA3B	c.59G>T	NM_144992.5	NP_659429.4:p.(Gly20Val)	NC_000002.11:g.98709614G>T	VUS	1 lab	91e6d44f1c
11:64534542 SF1 G>A	11	64534542	64534542	G	A	SF1	c.1412C>T	NM_004630.4	NP_004621.2:p.(Pro471Leu)	NC_000011.9:g.64534542G>A	VUS	1 lab	91ee944bfa
1:196642969 CFH C>CT	1	196642969	196642978	C	CT	CFH	c.245-9dup	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642978dup	(Likely) benign	1 lab	91eebd0ce9
19:50905375 POLD1 C>T	19	50905375	50905375	C	T	POLD1	c.583C>T	NM_001308632.1	NP_001295561.1:p.(Arg195Ter)	NC_000019.9:g.50905375C>T	VUS	1 lab	91f50b895e
19:18208606 MAST3 G>A	19	18208606	18208606	G	A	MAST3	c.4G>A	NM_015016.2	NP_055831.1:p.(Asp2Asn)	NC_000019.9:g.18208606G>A	VUS	1 lab	91f7a0b77f
6:31911569 C2 G>C	6	31911569	31911569	G	C	C2	c.1629G>C	NM_001282458.2	NP_001269387.1:p.(Lys543Asn)	NC_000006.11:g.31911569G>C	VUS	1 lab	91ff1c71a3
3:38645462 SCN5A G>C	3	38645462	38645462	G	C	SCN5A	c.1631C>G	NM_198056.3	NP_932173.1:p.(Ala544Gly)	NC_000003.11:g.38645462G>C	VUS	1 lab	92048f3fb4
15:63340863 TPM1 C>T	15	63340863	63340863	C	T	TPM1	c.89C>T	NM_001301289.2	NP_001288218.1:p.(Thr30Ile)	NC_000015.9:g.63340863C>T	VUS	1 lab	920d3f135a
22:26400778 MYO18B CCTT>C	22	26400778	26400783	CCTT	C	MYO18B	c.6430_6432del	NM_032608.7	NP_115997.5:p.(Ser2144del)	NC_000022.10:g.26400781_26400783del	VUS	1 lab	92115b33ec
1:27873909 AHDC1 G>A	1	27873909	27873909	G	A	AHDC1	c.4718C>T	NM_001029882.3	NP_001025053.1:p.(Ala1573Val)	NC_000001.10:g.27873909G>A	(Likely) benign	1 lab	9218b34f46
1:152283974 FLG CA>C	1	152283974	152283975	CA	C	FLG	c.3387del	NM_002016.2	NP_002007.1:p.(Ala1130ProfsTer56)	NC_000001.10:g.152283975del	(Likely) pathogenic	1 lab	9218dd4bd0
7:151917753 KMT2C G>T	7	151917753	151917753	G	T	KMT2C	c.3567C>A	NM_170606.3	NP_733751.2:p.(Ser1189Arg)	NC_000007.13:g.151917753G>T	(Likely) benign	1 lab	921c5f4037
8:141301129 TRAPPC9 T>C	8	141301129	141301129	T	C	TRAPPC9	c.1817A>G	NM_031466.8	NP_113654.5:p.(Tyr606Cys)	NC_000008.10:g.141301129T>C	VUS	1 lab	921e840bdf
17:36891560 PCGF2 G>C	17	36891560	36891560	G	C	PCGF2	c.951C>G	NM_007144.3	NP_009075.1:p.(Ser317Arg)	NC_000017.10:g.36891560G>C	VUS	1 lab	92207607f9
1:22159008 HSPG2 C>A	1	22159008	22159008	C	A	HSPG2	c.11187G>T	NM_005529.7	NP_005520.4:p.(Val3729=)	NC_000001.10:g.22159008C>A	(Likely) benign	1 lab	9220bf269b
11:17428933 ABCC8 T>C	11	17428933	17428933	T	C	ABCC8	c.2888A>G	NM_000352.6	NP_000343.2:p.(Asp963Gly)	NC_000011.9:g.17428933T>C	VUS	1 lab	922287d0ea
9:101867498 TGFBR1 C>T	9	101867498	101867498	C	T	TGFBR1	c.11C>T	NM_004612.4	NP_004603.1:p.(Ala4Val)	NC_000009.11:g.101867498C>T	(Likely) benign	1 lab	9225f4a4cd
3:37067120 MLH1 T>TTTTA	3	37067120	37067121	T	TTTTA	MLH1	c.1039-8_1039-7insTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTA	(Likely) benign	1 lab	9229aaeb5a
1:39838247 MACF1 C>G	1	39838247	39838247	C	G	MACF1	c.7006C>G	NM_012090.5	NP_036222.3:p.(Pro2336Ala)	NC_000001.10:g.39838247C>G	VUS	1 lab	922a8dca72
18:10682180 PIEZO2 A>G	18	10682180	10682180	A	G	PIEZO2	c.7268T>C	NM_022068.4	NP_071351.2:p.(Met2423Thr)	NC_000018.9:g.10682180A>G	(Likely) pathogenic	1 lab	922eae718c
16:3788663 CREBBP T>C	16	3788663	3788663	T	C	CREBBP	c.4291A>G	NM_004380.3	NP_004371.2:p.(Ile1431Val)	NC_000016.9:g.3788663T>C	VUS	1 lab	922efb4370
11:6625579 ILK C>A	11	6625579	6625579	C	A	ILK	c.78C>A	NM_001014795.3	NP_001014795.1:p.(Asp26Glu)	NC_000011.9:g.6625579C>A	VUS	1 lab	92322ccc22
4:23830128 PPARGC1A C>A	4	23830128	23830128	C	A	PPARGC1A	c.652G>T	NM_013261.5	NP_037393.1:p.(Asp218Tyr)	NC_000004.11:g.23830128C>A	VUS	1 lab	923c6f2cfe
3:11067954 SLC6A1 C>T	3	11067954	11067954	C	T	SLC6A1	c.987C>T	NM_003042.4	NP_003033.3:p.(Cys329=)	NC_000003.11:g.11067954C>T	(Likely) benign	1 lab	9243e5d94a
1:48260265 TRABD2B G>T	1	48260265	48260265	G	T	TRABD2B	c.981C>A	NM_001194986.2	NP_001181915.1:p.(Phe327Leu)	NC_000001.10:g.48260265G>T	VUS	1 lab	9245fcf6f4
X:46332422 KRABD4 G>A	X	46332422	46332422	G	A	KRABD4	c.491G>A	NM_001129898.2	NP_001123370.1:p.(Trp164Ter)	NC_000023.10:g.46332422G>A	VUS	1 lab	924a4ab53b
16:14029033 ERCC4 G>A	16	14029033	14029033	G	A	ERCC4	c.1244G>A	NM_005236.3	NP_005227.1:p.(Arg415Gln)	NC_000016.9:g.14029033G>A	(Likely) benign	1 lab	924b696e20
1:160385671 VANGL2 G>A	1	160385671	160385671	G	A	VANGL2	c.44G>A	NM_020335.3	NP_065068.1:p.(Gly15Asp)	NC_000001.10:g.160385671G>A	VUS	1 lab	924dbd40a7
8:3443729 CSMD1 G>C	8	3443729	3443729	G	C	CSMD1	c.1151C>G	NM_033225.6	NP_150094.5:p.(Ser384Cys)	NC_000008.10:g.3443729G>C	VUS	1 lab	925749f275
3:123166568 ADCY5 C>T	3	123166568	123166568	C	T	ADCY5	c.825G>A	NM_183357.3	NP_899200.1:p.(Ala275=)	NC_000003.11:g.123166568C>T	(Likely) benign	1 lab	9258bbe911
3:186395436 HRG C>T	3	186395436	186395436	C	T	HRG	c.1342C>T	NM_000412.5	NP_000403.1:p.(Arg448Cys)	NC_000003.11:g.186395436C>T	(Likely) benign	1 lab	925d557cf6
7:117175331 CFTR C>T	7	117175331	117175331	C	T	CFTR	c.609C>T	NM_000492.4	NP_000483.3:p.(Ile203=)	NC_000007.13:g.117175331C>T	(Likely) benign	1 lab	92616adcc9
9:134074088 NUP214 C>T	9	134074088	134074088	C	T	NUP214	c.5207C>T	NM_005085.4	NP_005076.3:p.(Ala1736Val)	NC_000009.11:g.134074088C>T	VUS	1 lab	92630d06ec
1:197069960 ASPM CT>C	1	197069960	197069961	CT	C	ASPM	c.8420del	NM_018136.5	NP_060606.3:p.(Gln2807ArgfsTer13)	NC_000001.10:g.197069961del	(Likely) pathogenic	1 lab	9263930bd7
3:48603992 COL7A1 C>A	3	48603992	48603992	C	A	COL7A1	c.8309G>T	NM_000094.4	NP_000085.1:p.(Arg2770Leu)	NC_000003.11:g.48603992C>A	(Likely) benign	1 lab	926a2c7c92
10:70645376 STOX1 A>C	10	70645376	70645376	A	C	STOX1	c.1824A>C	NM_152709.5	NP_689922.3:p.(Glu608Asp)	NC_000010.10:g.70645376A>C	(Likely) benign	1 lab	926d37e876
1:1273754 DVL1 G>A	1	1273754	1273754	G	A	DVL1	c.1327C>T	NM_004421.3	NP_004412.2:p.(Arg443Trp)	NC_000001.10:g.1273754G>A	VUS	1 lab	926d8111e1
X:12939869 TLR8 C>A	X	12939869	12939869	C	A	TLR8	c.2710C>A	NM_138636.5	NP_619542.1:p.(His904Asn)	NC_000023.10:g.12939869C>A	VUS	1 lab	926e3f7c0d
10:103827309 HPS6 G>A	10	103827309	103827309	G	A	HPS6	c.2078G>A	NM_024747.6	NP_079023.2:p.(Arg693His)	NC_000010.10:g.103827309G>A	VUS	1 lab	9275d998a2
16:50745722 NOD2 AGGCCAGGCAACTCACCAAT>A	16	50745722	50745749	AGGCCAGGCAACTCACCAAT	A	NOD2	c.1909_1927del	NM_022162.3	NP_071445.1:p.(Asn637SerfsTer120)	NC_000016.9:g.50745731_50745749del	VUS	1 lab	927884d386
2:46583281 EPAS1 C>T	2	46583281	46583281	C	T	EPAS1	c.218-9C>T	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583281C>T	(Likely) benign	1 lab	927b4a202e
X:50351071 SHROOM4 A>G	X	50351071	50351071	A	G	SHROOM4	c.3071T>C	NM_020717.5	NP_065768.2:p.(Leu1024Pro)	NC_000023.10:g.50351071A>G	VUS	1 lab	9284b418cf
22:19707961 SEPTIN5 T>TC	22	19707961	19707966	T	TC	SEPTIN5	c.486dup	NM_002688.6	NP_002679.2:p.(Phe163LeufsTer18)	NC_000022.10:g.19707966dup	VUS	1 lab	92921913ad
2:179459253 TTN C>T	2	179459253	179459253	C	T	TTN	c.57968G>A	NM_001267550.2	NP_001254479.2:p.(Ser19323Asn)	NC_000002.11:g.179459253C>T	(Likely) benign	1 lab	9295a81020
8:144893222 SCRIB G>A	8	144893222	144893222	G	A	SCRIB	c.1127C>T	NM_182706.5	NP_874365.3:p.(Ala376Val)	NC_000008.10:g.144893222G>A	VUS	1 lab	9295bd14f0
18:21115443 NPC1 T>C	18	21115443	21115443	T	C	NPC1	c.3467A>G	NM_000271.5	NP_000262.2:p.(Asn1156Ser)	NC_000018.9:g.21115443T>C	(Likely) pathogenic	1 lab	9298ec55b2
11:1264954 MUC5B ACCACAG>A	11	1264954	1264964	ACCACAG	A	MUC5B	c.6849_6854del	NM_002458.3	NP_002449.2:p.(Ala2286_Thr2287del)	NC_000011.9:g.1264959_1264964del	VUS	1 lab	92a515be93
1:196964915 CFHR5 GA>G	1	196964915	196964917	GA	G	CFHR5	c.678del	NM_030787.4	NP_110414.1:p.(Glu226AspfsTer7)	NC_000001.10:g.196964917del	VUS	1 lab	92a57dac2b
22:19029339 DGCR2 C>T	22	19029339	19029339	C	T	DGCR2	c.1140G>A	NM_005137.3	NP_005128.1:p.(Glu380=)	NC_000022.10:g.19029339C>T	(Likely) benign	1 lab	92a5eb9873
3:129249874 RHO G>GGT	3	129249874	129249875	G	GGT	RHO	c.517_518insGT	NM_000539.3	NP_000530.1:p.(Ala173GlyfsTer45)	NC_000003.11:g.129249874_129249875insGT	(Likely) pathogenic	1 lab	92a97a6a11
17:41215349 BRCA1 C>T	17	41215349	41215349	C	T	BRCA1	c.5193+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215349C>T	(Likely) pathogenic	1 lab	92b36727ac
22:23631755 BCR C>T	22	23631755	23631755	C	T	BCR	c.2654C>T	NM_004327.4	NP_004318.3:p.(Ser885Leu)	NC_000022.10:g.23631755C>T	VUS	1 lab	92b64de0a3
2:179640204 TTN G>A	2	179640204	179640204	G	A	TTN	c.6387C>T	NM_001267550.2	NP_001254479.2:p.(Pro2129=)	NC_000002.11:g.179640204G>A	(Likely) benign	1 lab	92c0fcf559
3:48615787 COL7A1 G>A	3	48615787	48615787	G	A	COL7A1	c.5499C>T	NM_000094.4	NP_000085.1:p.(Gly1833=)	NC_000003.11:g.48615787G>A	(Likely) pathogenic	1 lab	92c27eb93c
17:17697849 RAI1 C>G	17	17697849	17697849	C	G	RAI1	c.1587C>G	NM_030665.4	NP_109590.3:p.(Phe529Leu)	NC_000017.10:g.17697849C>G	VUS	1 lab	92c41f4322
7:94028427 COL1A2 G>A	7	94028427	94028427	G	A	COL1A2	c.132+31G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94028427G>A	(Likely) benign	1 lab	92c4a78eeb
4:85687147 WDFY3 A>C	4	85687147	85687147	A	C	WDFY3	c.5004T>G	NM_014991.6	NP_055806.2:p.(Phe1668Leu)	NC_000004.11:g.85687147A>C	(Likely) benign	1 lab	92c6bcb1e4
6:135778690 AHI1 T>G	6	135778690	135778690	T	G	AHI1	c.1093A>C	NM_001350503.2	NP_001337432.1:p.(Met365Leu)	NC_000006.11:g.135778690T>G	VUS	1 lab	92cb57a6e8
19:6702155 C3 C>T	19	6702155	6702155	C	T	C3	c.2423G>A	NM_000064.4	NP_000055.2:p.(Ser808Asn)	NC_000019.9:g.6702155C>T	VUS	1 lab	92cc0e9317
5:94852694 SKIC3 G>A	5	94852694	94852694	G	A	SKIC3	c.2362C>T	NM_014639.4	NP_055454.1:p.(Arg788Cys)	NC_000005.9:g.94852694G>A	VUS	1 lab	92cca39073
2:219746909 WNT10A T>C	2	219746909	219746909	T	C	WNT10A	c.140T>C	NM_025216.3	NP_079492.2:p.(Leu47Pro)	NC_000002.11:g.219746909T>C	VUS	1 lab	92d64b89ed
1:110301710 EPS8L3 C>G	1	110301710	110301710	C	G	EPS8L3	c.435G>C	NM_139053.3	NP_620641.1:p.(Lys145Asn)	NC_000001.10:g.110301710C>G	VUS	1 lab	92da0d2da2
3:18435987 SATB1 C>T	3	18435987	18435987	C	T	SATB1	c.1173G>A	NM_001195470.3	NP_001182399.1:p.(Ala391=)	NC_000003.11:g.18435987C>T	(Likely) benign	1 lab	92e268aeac
10:81932595 ANXA11 G>A	10	81932595	81932595	G	A	ANXA11	c.23C>T	NM_001157.3	NP_001148.1:p.(Pro8Leu)	NC_000010.10:g.81932595G>A	(Likely) benign	1 lab	92e6102eec
5:147488367 SPINK5 C>T	5	147488367	147488367	C	T	SPINK5	c.1659C>T	NM_001127698.2	NP_001121170.1:p.(Val553=)	NC_000005.9:g.147488367C>T	(Likely) benign	1 lab	92e6d4e565
16:89866043 FANCA T>C	16	89866043	89866043	T	C	FANCA	c.796A>G	NM_000135.4	NP_000126.2:p.(Thr266Ala)	NC_000016.9:g.89866043T>C	(Likely) benign	1 lab	92ea88ee8b
15:34546765 SLC12A6 AT>A	15	34546765	34546766	AT	A	SLC12A6	c.901del	NM_133647.2	NP_598408.1:p.(Ile301SerfsTer15)	NC_000015.9:g.34546766del	(Likely) pathogenic	1 lab	92ee72d141
1:6508712 ESPN T>C	1	6508712	6508712	T	C	ESPN	c.1476T>C	NM_031475.3	NP_113663.2:p.(Cys492=)	NC_000001.10:g.6508712T>C	(Likely) benign	1 lab	92f14daef0
12:115110056 TBX3 T>C	12	115110056	115110056	T	C	TBX3	c.1762A>G	NM_005996.4	NP_005987.3:p.(Met588Val)	NC_000012.11:g.115110056T>C	VUS	1 lab	92f6aa7e11
X:69176947 EDA G>A	X	69176947	69176947	G	A	EDA	c.467G>A	NM_001399.5	NP_001390.1:p.(Arg156His)	NC_000023.10:g.69176947G>A	(Likely) pathogenic	1 lab	92f955df5c
X:18646549 CDKL5 C>T	X	18646549	18646549	C	T	CDKL5	c.2555C>T	NM_003159.3	NP_003150.1:p.(Pro852Leu)	NC_000023.10:g.18646549C>T	VUS	1 lab	92fbbcd33c
16:2104424 TSC2 A>G	16	2104424	2104424	A	G	TSC2	c.464A>G	NM_000548.5	NP_000539.2:p.(Tyr155Cys)	NC_000016.9:g.2104424A>G	VUS	1 lab	93059de6bf
6:152605207 SYNE1 G>A	6	152605207	152605207	G	A	SYNE1	c.18113C>T	NM_182961.4	NP_892006.3:p.(Ala6038Val)	NC_000006.11:g.152605207G>A	VUS	1 lab	9309768da7
13:32915183 BRCA2 GC>G	13	32915183	32915184	GC	G	BRCA2	c.6692del	NM_000059.4	NP_000050.3:p.(Ala2231ValfsTer10)	NC_000013.10:g.32915184del	(Likely) pathogenic	1 lab	930bcd1428
11:6661269 DCHS1 T>TG	11	6661269	6661273	T	TG	DCHS1	c.1575dup	NM_003737.4	NP_003728.1:p.(Thr526HisfsTer14)	NC_000011.9:g.6661273dup	VUS	1 lab	930d51c8c0
12:7045891 ATN1 A>ACAGCAGCAGCAGCAGCAGCAGCAGCAG	12	7045891	7045938	A	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	ATN1	c.1482_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln494_Gln502dup)	NC_000012.11:g.7045912_7045938dup	VUS	1 lab	931058beda
10:81060604 ZMIZ1 G>A	10	81060604	81060604	G	A	ZMIZ1	c.1924G>A	NM_020338.4	NP_065071.1:p.(Gly642Ser)	NC_000010.10:g.81060604G>A	VUS	1 lab	931ffa93fb
17:79866458 PCYT2 C>G	17	79866458	79866458	C	G	PCYT2	c.393G>C	NM_002861.5	NP_002852.1:p.(Gln131His)	NC_000017.10:g.79866458C>G	VUS	1 lab	9320dde89a
6:7231360 RREB1 G>C	6	7231360	7231360	G	C	RREB1	c.3028G>C	NM_001003699.4	NP_001003699.1:p.(Gly1010Arg)	NC_000006.11:g.7231360G>C	VUS	1 lab	9322e2949d
X:68381281 PJA1 C>T	X	68381281	68381281	C	T	PJA1	c.1801G>A	NM_145119.4	NP_660095.1:p.(Glu601Lys)	NC_000023.10:g.68381281C>T	VUS	1 lab	93260869d8
22:21348224 LZTR1 C>A	22	21348224	21348224	C	A	LZTR1	c.1365C>A	NM_006767.4	NP_006758.2:p.(Cys455Ter)	NC_000022.10:g.21348224C>A	(Likely) pathogenic	1 lab	9326c23b65
6:15513520 JARID2 C>T	6	15513520	15513520	C	T	JARID2	c.3317C>T	NM_004973.4	NP_004964.2:p.(Ser1106Phe)	NC_000006.11:g.15513520C>T	VUS	1 lab	9326f0a98a
3:15686296 BTD T>G	3	15686296	15686296	T	G	BTD	c.873T>G	NM_001370658.1	NP_001357587.1:p.(Ser291Arg)	NC_000003.11:g.15686296T>G	(Likely) pathogenic	1 lab	9329205fd6
12:9232268 A2M T>C	12	9232268	9232268	T	C	A2M	c.2998A>G	NM_000014.6	NP_000005.3:p.(Ile1000Val)	NC_000012.11:g.9232268T>C	(Likely) benign	1 lab	932ad48617
11:6637938 TPP1 C>G	11	6637938	6637938	C	G	TPP1	c.840G>C	NM_000391.4	NP_000382.3:p.(Leu280=)	NC_000011.9:g.6637938C>G	(Likely) benign	1 lab	93313c0267
X:20173554 RPS6KA3 G>A	X	20173554	20173554	G	A	RPS6KA3	c.2185C>T	NM_004586.3	NP_004577.1:p.(Arg729Trp)	NC_000023.10:g.20173554G>A	(Likely) pathogenic	1 lab	9334d98e83
16:3293922 MEFV A>T	16	3293922	3293922	A	T	MEFV	c.1272T>A	NM_001198536.2	NP_001185465.2:p.(Asp424Glu)	NC_000016.9:g.3293922A>T	(Likely) benign	1 lab	93385907db
17:65871803 BPTF G>A	17	65871803	65871803	G	A	BPTF	c.1996G>A	NM_004459.7	NP_004450.3:p.(Asp666Asn)	NC_000017.10:g.65871803G>A	(Likely) benign	1 lab	9338dee3d2
10:43600466 RET G>A	10	43600466	43600466	G	A	RET	c.692G>A	NM_020975.6	NP_066124.1:p.(Arg231His)	NC_000010.10:g.43600466G>A	(Likely) pathogenic	1 lab	933b6ad443
7:154681142 DPP6 CT>C	7	154681142	154681160	CT	C	DPP6	c.2192-7del	NM_001936.5	NP_001927.3:p.?	NC_000007.13:g.154681160del	(Likely) benign	1 lab	933c235bf0
2:220283459 DES C>G	2	220283459	220283459	C	G	DES	c.275C>G	NM_001927.4	NP_001918.3:p.(Ser92Ter)	NC_000002.11:g.220283459C>G	(Likely) pathogenic	1 lab	933cd17ac5
3:128614185 ACAD9 A>C	3	128614185	128614185	A	C	ACAD9	c.379A>C	NM_014049.5	NP_054768.2:p.(Arg127=)	NC_000003.11:g.128614185A>C	(Likely) benign	1 lab	934068f6b9
11:73716889 UCP3 G>A	11	73716889	73716889	G	A	UCP3	c.427C>T	NM_003356.4	NP_003347.1:p.(Arg143Ter)	NC_000011.9:g.73716889G>A	VUS	1 lab	9345154ce4
2:179559552 TTN A>C	2	179559552	179559552	A	C	TTN	c.31348+4T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559552A>C	(Likely) benign	1 lab	9345ba2bb5
15:85407748 ALPK3 G>T	15	85407748	85407748	G	T	ALPK3	c.4575G>T	NM_020778.5	NP_065829.4:p.(Lys1525Asn)	NC_000015.9:g.85407748G>T	VUS	1 lab	9347805952
17:41245351 BRCA1 CT>C	17	41245351	41245353	CT	C	BRCA1	c.2196del	NM_007294.4	NP_009225.1:p.(Glu733ArgfsTer3)	NC_000017.10:g.41245353del	(Likely) pathogenic	1 lab	9347bad865
1:1148414 TNFRSF4 G>A	1	1148414	1148414	G	A	TNFRSF4	c.328C>T	NM_003327.4	NP_003318.1:p.(Arg110Trp)	NC_000001.10:g.1148414G>A	VUS	1 lab	934ea74525
10:43600477 RET G>A	10	43600477	43600477	G	A	RET	c.703G>A	NM_020975.6	NP_066124.1:p.(Glu235Lys)	NC_000010.10:g.43600477G>A	VUS	1 lab	9351a64fa4
11:5247791 HBB C>G	11	5247791	5247791	C	G	HBB	c.315+16G>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247791C>G	(Likely) benign	1 lab	93529d8d5b
X:610715 SHOX C>G	X	610715	610715	C	G	SHOX	c.634-8805C>G	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.610715C>G	(Likely) benign	1 lab	9353ee8abe
6:32411523 HLA-DRA T>C	6	32411523	32411523	T	C	HLA-DRA	c.611-10T>C	NM_019111.5	NP_061984.2:p.?	NC_000006.11:g.32411523T>C	(Likely) benign	1 lab	935679d926
13:32929025 BRCA2 GA>G	13	32929025	32929027	GA	G	BRCA2	c.7037del	NM_000059.4	NP_000050.3:p.(Asn2346IlefsTer21)	NC_000013.10:g.32929027del	(Likely) pathogenic	1 lab	93614e61fa
10:122659654 WDR11 GT>G	10	122659654	122659659	GT	G	WDR11	c.2624+10del	NM_018117.12	NP_060587.8:p.?	NC_000010.10:g.122659659del	(Likely) benign	1 lab	93627f4d86
X:153580657 FLNA C>T	X	153580657	153580657	C	T	FLNA	c.6637G>A	NM_001456.4	NP_001447.2:p.(Val2213Met)	NC_000023.10:g.153580657C>T	VUS	1 lab	9366579e2d
10:118313265 PNLIP T>C	10	118313265	118313265	T	C	PNLIP	c.486T>C	NM_000936.4	NP_000927.1:p.(Asn162=)	NC_000010.10:g.118313265T>C	(Likely) benign	1 lab	93668fab39
9:138587065 SOHLH1 TA>T	9	138587065	138587066	TA	T	SOHLH1	c.705del	NM_001101677.2	NP_001095147.2:p.(Lys236ArgfsTer3)	NC_000009.11:g.138587066del	(Likely) pathogenic	1 lab	9373d9a35a
3:24003533 NR1D2 A>G	3	24003533	24003533	A	G	NR1D2	c.583A>G	NM_005126.5	NP_005117.3:p.(Met195Val)	NC_000003.11:g.24003533A>G	VUS	1 lab	937cae129b
2:27460733 CAD G>A	2	27460733	27460733	G	A	CAD	c.4711G>A	NM_004341.5	NP_004332.2:p.(Val1571Met)	NC_000002.11:g.27460733G>A	VUS	1 lab	93814566eb
2:189907937 COL5A2 A>G	2	189907937	189907937	A	G	COL5A2	c.3411T>C	NM_000393.5	NP_000384.2:p.(Gly1137=)	NC_000002.11:g.189907937A>G	(Likely) benign	1 lab	938168f612
16:89351356 ANKRD11 G>A	16	89351356	89351356	G	A	ANKRD11	c.1594C>T	NM_013275.6	NP_037407.4:p.(Gln532Ter)	NC_000016.9:g.89351356G>A	(Likely) pathogenic	1 lab	93845f249a
X:129063525 UTP14A A>C	X	129063525	129063525	A	C	UTP14A	c.2257A>C	NM_006649.4	NP_006640.2:p.(Asn753His)	NC_000023.10:g.129063525A>C	(Likely) benign	1 lab	938e82f826
20:9368181 PLCB4 T>C	20	9368181	9368181	T	C	PLCB4	c.1136T>C	NM_000933.4	NP_000924.3:p.(Met379Thr)	NC_000020.10:g.9368181T>C	VUS	1 lab	9398208c76
6:158534493 SERAC1 C>T	6	158534493	158534493	C	T	SERAC1	c.1816G>A	NM_032861.4	NP_116250.3:p.(Val606Met)	NC_000006.11:g.158534493C>T	VUS	1 lab	939fc4e99f
10:76781963 KAT6B CCA>C	10	76781963	76781967	CCA	C	KAT6B	c.3349_3350del	NM_012330.4	NP_036462.2:p.(Gln1117ValfsTer19)	NC_000010.10:g.76781966_76781967del	(Likely) pathogenic	1 lab	93a0eb6913
18:55351355 ATP8B1 G>A	18	55351355	55351355	G	A	ATP8B1	c.1543C>T	NM_005603.6	NP_005594.2:p.(Gln515Ter)	NC_000018.9:g.55351355G>A	(Likely) pathogenic	1 lab	93a27588f7
6:51732807 PKHD1 C>T	6	51732807	51732807	C	T	PKHD1	c.7587G>A	NM_138694.4	NP_619639.3:p.(Gly2529=)	NC_000006.11:g.51732807C>T	(Likely) benign	1 lab	93a42a8877
X:70757887 OGT G>A	X	70757887	70757887	G	A	OGT	c.427G>A	NM_181672.3	NP_858058.1:p.(Val143Ile)	NC_000023.10:g.70757887G>A	VUS	1 lab	93a67c0df1
9:140728787 EHMT1 T>TTC	9	140728787	140728791	T	TTC	EHMT1	c.3541-11_3541-10dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140728790_140728791dup	(Likely) benign	1 lab	93a80f0e66
20:9401928 PLCB4 G>A	20	9401928	9401928	G	A	PLCB4	c.2155-16G>A	NM_001172646.2	NP_001166117.1:p.?	NC_000020.10:g.9401928G>A	(Likely) benign	1 lab	945f798348
2:162274240 TBR1 A>T	2	162274240	162274240	A	T	TBR1	c.746A>T	NM_006593.4	NP_006584.1:p.(His249Leu)	NC_000002.11:g.162274240A>T	VUS	1 lab	93a926f344
15:43533062 TGM5 T>A	15	43533062	43533062	T	A	TGM5	c.989A>T	NM_201631.4	NP_963925.2:p.(Lys330Met)	NC_000015.9:g.43533062T>A	VUS	1 lab	93a9845796
2:241686714 KIF1A C>A	2	241686714	241686714	C	A	KIF1A	c.2699G>T	NM_004321.8	NP_004312.2:p.(Gly900Val)	NC_000002.11:g.241686714C>A	VUS	1 lab	93ad2077e8
3:128618222 ACAD9 CA>C	3	128618222	128618223	CA	C	ACAD9	c.727del	NM_014049.5	NP_054768.2:p.(Thr243GlnfsTer4)	NC_000003.11:g.128618223del	(Likely) pathogenic	1 lab	93b17e332a
X:39933767 BCOR G>A	X	39933767	39933767	G	A	BCOR	c.832C>T	NM_017745.6	NP_060215.4:p.(Pro278Ser)	NC_000023.10:g.39933767G>A	VUS	1 lab	93b5624bfb
8:41563660 ANK1 C>T	8	41563660	41563660	C	T	ANK1	c.2097+1G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41563660C>T	(Likely) pathogenic	1 lab	93b97c5a3e
17:7320453 NLGN2 C>CA	17	7320453	7320454	C	CA	NLGN2	c.1843_1844insA	NM_020795.4	NP_065846.1:p.(Leu615HisfsTer49)	NC_000017.10:g.7320453_7320454insA	VUS	1 lab	93b9e657d1
4:1803279 FGFR3 T>G	4	1803279	1803279	T	G	FGFR3	c.615+16T>G	NM_001163213.2	NP_001156685.1:p.?	NC_000004.11:g.1803279T>G	(Likely) benign	1 lab	93ba6b8fc4
1:237024414 MTR G>T	1	237024414	237024414	G	T	MTR	c.2044-11G>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237024414G>T	(Likely) benign	1 lab	93beca1210
5:147478785 SPINK5 C>T	5	147478785	147478785	C	T	SPINK5	c.1011-12C>T	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147478785C>T	(Likely) benign	1 lab	93bfcf14f0
9:312124 DOCK8 T>C	9	312124	312124	T	C	DOCK8	c.699T>C	NM_203447.4	NP_982272.2:p.(Asn233=)	NC_000009.11:g.312124T>C	(Likely) benign	1 lab	93c0830170
15:91483608 UNC45A C>T	15	91483608	91483608	C	T	UNC45A	c.592C>T	NM_018671.5	NP_061141.2:p.(Gln198Ter)	NC_000015.9:g.91483608C>T	(Likely) pathogenic	1 lab	93c7a05965
2:179516998 TTN G>GGGT	2	179516998	179517003	G	GGGT	TTN	c.39201_39203dup	NM_001267550.2	NP_001254479.2:p.(Pro13068dup)	NC_000002.11:g.179517001_179517003dup	VUS	1 lab	93cdec0a79
4:6302570 WFS1 T>G	4	6302570	6302570	T	G	WFS1	c.1048T>G	NM_006005.3	NP_005996.2:p.(Phe350Val)	NC_000004.11:g.6302570T>G	VUS	1 lab	93d8293cb1
12:49444750 KMT2D G>A	12	49444750	49444750	G	A	KMT2D	c.2716C>T	NM_003482.4	NP_003473.3:p.(Pro906Ser)	NC_000012.11:g.49444750G>A	VUS	1 lab	93d91479e9
8:22265965 SLC39A14 A>G	8	22265965	22265965	A	G	SLC39A14	c.413A>G	NM_015359.6	NP_056174.2:p.(Glu138Gly)	NC_000008.10:g.22265965A>G	VUS	1 lab	93dd78e35b
2:179459294 TTN C>T	2	179459294	179459294	C	T	TTN	c.57927G>A	NM_001267550.2	NP_001254479.2:p.(Lys19309=)	NC_000002.11:g.179459294C>T	(Likely) benign	1 lab	93e39eaa51
12:95387950 NDUFA12 C>A	12	95387950	95387950	C	A	NDUFA12	c.253G>T	NM_018838.5	NP_061326.1:p.(Glu85Ter)	NC_000012.11:g.95387950C>A	(Likely) pathogenic	1 lab	93e412e46d
11:118343067 KMT2A A>G	11	118343067	118343067	A	G	KMT2A	c.1193A>G	NM_001197104.2	NP_001184033.1:p.(Lys398Arg)	NC_000011.9:g.118343067A>G	(Likely) benign	1 lab	93ec7c0423
5:153857082 HAND1 T>C	5	153857082	153857082	T	C	HAND1	c.487A>G	NM_004821.3	NP_004812.1:p.(Lys163Glu)	NC_000005.9:g.153857082T>C	VUS	1 lab	93f00f7722
X:70339949 MED12 A>G	X	70339949	70339949	A	G	MED12	c.482A>G	NM_005120.3	NP_005111.2:p.(Lys161Arg)	NC_000023.10:g.70339949A>G	VUS	1 lab	93f50a37f9
19:33372750 CEP89 CTGTTCTG>C	19	33372750	33372757	CTGTTCTG	C	CEP89	c.2128_2134del	NM_032816.5	NP_116205.3:p.(Gln710GlufsTer65)	NC_000019.9:g.33372751_33372757del	VUS	1 lab	93fb28acc7
12:49434657 KMT2D T>C	12	49434657	49434657	T	C	KMT2D	c.6896A>G	NM_003482.4	NP_003473.3:p.(Tyr2299Cys)	NC_000012.11:g.49434657T>C	VUS	1 lab	93fe0bf452
19:42847715 MEGF8 G>A	19	42847715	42847715	G	A	MEGF8	c.1600G>A	NM_001271938.2	NP_001258867.1:p.(Gly534Ser)	NC_000019.9:g.42847715G>A	VUS	1 lab	9403efc50d
X:19560110 SH3KBP1 C>T	X	19560110	19560110	C	T	SH3KBP1	c.1900G>A	NM_001353891.2	NP_001340820.1:p.(Val634Met)	NC_000023.10:g.19560110C>T	VUS	1 lab	9408432110
12:6702267 CHD4 T>C	12	6702267	6702267	T	C	CHD4	c.2642A>G	NM_001273.5	NP_001264.2:p.(Asn881Ser)	NC_000012.11:g.6702267T>C	VUS	1 lab	9409d20eef
16:8941588 PMM2 A>T	16	8941588	8941588	A	T	PMM2	c.647A>T	NM_000303.3	NP_000294.1:p.(Asn216Ile)	NC_000016.9:g.8941588A>T	(Likely) pathogenic	1 lab	940f87436a
16:88713504 CYBA C>T	16	88713504	88713504	C	T	CYBA	c.203+5G>A	NM_000101.4	NP_000092.2:p.?	NC_000016.9:g.88713504C>T	VUS	1 lab	94113246fb
12:133253196 POLE G>C	12	133253196	133253196	G	C	POLE	c.845C>G	NM_006231.4	NP_006222.2:p.(Pro282Arg)	NC_000012.11:g.133253196G>C	VUS	1 lab	9415751b24
15:40268834 EIF2AK4 C>G	15	40268834	40268834	C	G	EIF2AK4	c.2038C>G	NM_001013703.4	NP_001013725.2:p.(Arg680Gly)	NC_000015.9:g.40268834C>G	VUS	1 lab	94194b21ea
16:69369185 COG8 T>A	16	69369185	69369185	T	A	COG8	c.652A>T	NM_032382.5	NP_115758.3:p.(Thr218Ser)	NC_000016.9:g.69369185T>A	VUS	1 lab	9419a52e37
14:92465617 TRIP11 A>C	14	92465617	92465617	A	C	TRIP11	c.4859T>G	NM_004239.4	NP_004230.2:p.(Leu1620Arg)	NC_000014.8:g.92465617A>C	VUS	1 lab	9420d97151
16:72830205 ZFHX3 C>T	16	72830205	72830205	C	T	ZFHX3	c.6376G>A	NM_006885.4	NP_008816.3:p.(Ala2126Thr)	NC_000016.9:g.72830205C>T	VUS	1 lab	9422e9e44e
5:150639439 GM2A A>G	5	150639439	150639439	A	G	GM2A	c.205A>G	NM_000405.5	NP_000396.2:p.(Met69Val)	NC_000005.9:g.150639439A>G	(Likely) benign	1 lab	9426a45d0e
17:46607817 HOXB1 C>T	17	46607817	46607817	C	T	HOXB1	c.450G>A	NM_002144.4	NP_002135.2:p.(Ala150=)	NC_000017.10:g.46607817C>T	(Likely) benign	1 lab	9427468239
3:122002815 CASR C>A	3	122002815	122002815	C	A	CASR	c.2014C>A	NM_000388.4	NP_000379.3:p.(Pro672Thr)	NC_000003.11:g.122002815C>A	VUS	1 lab	942c35cdd4
8:2050495 MYOM2 G>C	8	2050495	2050495	G	C	MYOM2	c.2658G>C	NM_003970.4	NP_003961.3:p.(Arg886Ser)	NC_000008.10:g.2050495G>C	VUS	1 lab	943fb49186
2:179418455 TTN G>C	2	179418455	179418455	G	C	TTN	c.89277C>G	NM_001267550.2	NP_001254479.2:p.(Val29759=)	NC_000002.11:g.179418455G>C	(Likely) benign	1 lab	943fe8a06c
20:32880242 AHCY C>T	20	32880242	32880242	C	T	AHCY	c.373G>A	NM_001322086.2	NP_001309015.1:p.(Gly125Arg)	NC_000020.10:g.32880242C>T	VUS	1 lab	944028c40f
3:3189687 TRNT1 C>T	3	3189687	3189687	C	T	TRNT1	c.1154C>T	NM_182916.3	NP_886552.3:p.(Pro385Leu)	NC_000003.11:g.3189687C>T	VUS	1 lab	9447a2f96c
6:32411646 HLA-DRA T>G	6	32411646	32411646	T	G	HLA-DRA	c.724T>G	NM_019111.5	NP_061984.2:p.(Leu242Val)	NC_000006.11:g.32411646T>G	(Likely) benign	1 lab	94545e887d
5:89990275 ADGRV1 G>A	5	89990275	89990275	G	A	ADGRV1	c.7702G>A	NM_032119.4	NP_115495.3:p.(Val2568Ile)	NC_000005.9:g.89990275G>A	VUS	1 lab	9458d87daf
22:23585132 BCR A>G	22	23585132	23585132	A	G	BCR	c.1280-10854A>G	NM_004327.4	NP_004318.3:p.?	NC_000022.10:g.23585132A>G	(Likely) benign	1 lab	9461890fb9
6:32800460 TAP2 G>A	6	32800460	32800460	G	A	TAP2	c.1087C>T	NM_001290043.2	NP_001276972.1:p.(Arg363Trp)	NC_000006.11:g.32800460G>A	VUS	1 lab	9464079cca
19:42383351 CD79A G>A	19	42383351	42383351	G	A	CD79A	c.371G>A	NM_001783.4	NP_001774.1:p.(Arg124His)	NC_000019.9:g.42383351G>A	VUS	1 lab	946604eb35
X:48378816 PORCN T>G	X	48378816	48378816	T	G	PORCN	c.1338T>G	NM_203475.3	NP_982301.1:p.(Ser446Arg)	NC_000023.10:g.48378816T>G	VUS	1 lab	9468bdf736
21:38877632 DYRK1A T>TGGA	21	38877632	38877635	T	TGGA	DYRK1A	c.1287_1289dup	NM_001396.5	NP_001387.2:p.(Glu430dup)	NC_000021.8:g.38877633_38877635dup	VUS	1 lab	946a653b28
5:147499670 SPINK5 C>T	5	147499670	147499670	C	T	SPINK5	c.2412C>T	NM_001127698.2	NP_001121170.1:p.(Gly804=)	NC_000005.9:g.147499670C>T	(Likely) benign	1 lab	946dbcb5a3
17:73748535 ITGB4 A>C	17	73748535	73748535	A	C	ITGB4	c.3985A>C	NM_001005731.3	NP_001005731.1:p.(Ile1329Leu)	NC_000017.10:g.73748535A>C	VUS	1 lab	947089614d
1:209788708 LAMB3 G>A	1	209788708	209788708	G	A	LAMB3	c.3427C>T	NM_000228.3	NP_000219.2:p.(Arg1143Cys)	NC_000001.10:g.209788708G>A	VUS	1 lab	9471607980
5:73992881 HEXB A>G	5	73992881	73992881	A	G	HEXB	c.619A>G	NM_000521.4	NP_000512.2:p.(Ile207Val)	NC_000005.9:g.73992881A>G	(Likely) benign	1 lab	947372b4a0
2:179571380 TTN G>T	2	179571380	179571380	G	T	TTN	c.29221C>A	NM_001267550.2	NP_001254479.2:p.(Gln9741Lys)	NC_000002.11:g.179571380G>T	VUS	1 lab	947f6f657d
5:37026387 NIPBL CAAAG>C	5	37026387	37026393	CAAAG	C	NIPBL	c.5769_5772del	NM_133433.4	NP_597677.2:p.(Glu1924GlnfsTer2)	NC_000005.9:g.37026390_37026393del	(Likely) pathogenic	1 lab	948022d9d0
3:171442535 PLD1 C>A	3	171442535	171442535	C	A	PLD1	c.709G>T	NM_002662.5	NP_002653.1:p.(Gly237Cys)	NC_000003.11:g.171442535C>A	VUS	1 lab	9482ea0f83
12:115112597 TBX3 GCT>G	12	115112597	115112602	GCT	G	TBX3	c.1081_1082del	NM_005996.4	NP_005987.3:p.(Ser361GlnfsTer25)	NC_000012.11:g.115112601_115112602del	(Likely) pathogenic	1 lab	9489014e5b
18:10487617 APCDD1 C>T	18	10487617	10487617	C	T	APCDD1	c.1127C>T	NM_153000.5	NP_694545.1:p.(Ala376Val)	NC_000018.9:g.10487617C>T	(Likely) benign	1 lab	948b6c222c
16:1891830 MEIOB C>T	16	1891830	1891830	C	T	MEIOB	c.1025G>A	NM_001163560.3	NP_001157032.1:p.(Arg342Gln)	NC_000016.9:g.1891830C>T	VUS	1 lab	9495fcc712
X:117644274 DOCK11 T>C	X	117644274	117644274	T	C	DOCK11	c.102+14238T>C	NM_144658.4	NP_653259.3:p.?	NC_000023.10:g.117644274T>C	(Likely) benign	1 lab	949616c8c1
7:124482936 POT1 C>T	7	124482936	124482936	C	T	POT1	c.1088G>A	NM_015450.3	NP_056265.2:p.(Arg363Gln)	NC_000007.13:g.124482936C>T	VUS	1 lab	949965efa5
9:138680005 KCNT1 C>T	9	138680005	138680005	C	T	KCNT1	c.3427C>T	NM_001272003.2	NP_001258932.1:p.(Gln1143Ter)	NC_000009.11:g.138680005C>T	VUS	1 lab	949bfa6002
9:12708958 TYRP1 T>TA	9	12708958	12708959	T	TA	TYRP1	c.1409-18dup	NM_000550.3	NP_000541.1:p.?	NC_000009.11:g.12708959dup	(Likely) benign	1 lab	949f276da9
5:14711382 ANKH T>TC	5	14711382	14711387	T	TC	ANKH	c.1402dup	NM_054027.6	NP_473368.1:p.(Glu468GlyfsTer25)	NC_000005.9:g.14711387dup	VUS	1 lab	94a2746bfd
X:32827733 DMD AACACAT>A	X	32827733	32827750	AACACAT	A	DMD	c.162-11_162-6del	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32827745_32827750del	(Likely) benign	1 lab	94a62d39c7
13:48953730 RB1 C>T	13	48953730	48953730	C	T	RB1	c.1333C>T	NM_000321.3	NP_000312.2:p.(Arg445Ter)	NC_000013.10:g.48953730C>T	(Likely) pathogenic	1 lab	94ac74f0ba
11:17757849 KCNC1 C>A	11	17757849	17757849	C	A	KCNC1	c.300C>A	NM_004976.4	NP_004967.1:p.(Asp100Glu)	NC_000011.9:g.17757849C>A	VUS	1 lab	94ad8319ed
X:63411446 AMER1 C>T	X	63411446	63411446	C	T	AMER1	c.1721G>A	NM_152424.4	NP_689637.3:p.(Arg574Gln)	NC_000023.10:g.63411446C>T	VUS	1 lab	94ae028e1b
16:3820816 CREBBP G>C	16	3820816	3820816	G	C	CREBBP	c.2635C>G	NM_004380.3	NP_004371.2:p.(Pro879Ala)	NC_000016.9:g.3820816G>C	VUS	1 lab	94b10e051f
6:30627568 DHX16 AAC>A	6	30627568	30627573	AAC	A	DHX16	c.1797_1798del	NM_003587.5	NP_003578.2:p.(Leu600AlafsTer22)	NC_000006.11:g.30627572_30627573del	VUS	1 lab	94b533bc37
17:4856376 ENO3 A>G	17	4856376	4856376	A	G	ENO3	c.212A>G	NM_001976.5	NP_001967.3:p.(Asn71Ser)	NC_000017.10:g.4856376A>G	(Likely) benign	1 lab	94bb58c2e1
5:89938704 ADGRV1 G>C	5	89938704	89938704	G	C	ADGRV1	c.2399G>C	NM_032119.4	NP_115495.3:p.(Arg800Pro)	NC_000005.9:g.89938704G>C	VUS	1 lab	94c13b2aa3
12:21958188 ABCC9 A>T	12	21958188	21958188	A	T	ABCC9	c.4570T>A	NM_005691.4	NP_005682.2:p.(Leu1524Ile)	NC_000012.11:g.21958188A>T	VUS	1 lab	94c548acd1
7:151859819 KMT2C C>T	7	151859819	151859819	C	T	KMT2C	c.10843G>A	NM_170606.3	NP_733751.2:p.(Asp3615Asn)	NC_000007.13:g.151859819C>T	VUS	1 lab	94c657079b
17:4500520 SMTNL2 C>T	17	4500520	4500520	C	T	SMTNL2	c.1161C>T	NM_001114974.2	NP_001108446.1:p.(Cys387=)	NC_000017.10:g.4500520C>T	(Likely) benign	1 lab	94c72752d5
21:46897879 COL18A1 G>A	21	46897879	46897879	G	A	COL18A1	c.1221G>A	NM_001379500.1	NP_001366429.1:p.(Pro407=)	NC_000021.8:g.46897879G>A	(Likely) benign	1 lab	94cbf1ab94
1:22832743 ZBTB40 A>T	1	22832743	22832743	A	T	ZBTB40	c.1360+9A>T	NM_001083621.2	NP_001077090.1:p.?	NC_000001.10:g.22832743A>T	(Likely) benign	1 lab	94cef7fa32
17:56770093 RAD51C C>T	17	56770093	56770093	C	T	RAD51C	c.89C>T	NM_058216.3	NP_478123.1:p.(Ala30Val)	NC_000017.10:g.56770093C>T	VUS	1 lab	94d1f7bda7
12:49444921 KMT2D A>G	12	49444921	49444921	A	G	KMT2D	c.2545T>C	NM_003482.4	NP_003473.3:p.(Ser849Pro)	NC_000012.11:g.49444921A>G	VUS	1 lab	94d44c3297
7:98562285 TRRAP A>G	7	98562285	98562285	A	G	TRRAP	c.6788A>G	NM_003496.4	NP_003487.1:p.(Asn2263Ser)	NC_000007.13:g.98562285A>G	VUS	1 lab	94d82fa383
2:179622659 TTN C>T	2	179622659	179622659	C	T	TTN	c.10304-16G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179622659C>T	(Likely) benign	1 lab	94d93a3c70
1:155185172 MISSING 155201213>DEL	1	155185172	155201213	155201213	DEL	MISSING				NC_000001.10:g.155185172_155201213del	(Likely) benign	1 lab	94d9a5cb59
5:137713472 KDM3B G>A	5	137713472	137713472	G	A	KDM3B	c.538G>A	NM_016604.4	NP_057688.3:p.(Ala180Thr)	NC_000005.9:g.137713472G>A	VUS	1 lab	94e26babe7
5:13794112 DNAH5 G>A	5	13794112	13794112	G	A	DNAH5	c.7943C>T	NM_001369.3	NP_001360.1:p.(Ala2648Val)	NC_000005.9:g.13794112G>A	VUS	1 lab	94e2fc916f
14:102482368 DYNC1H1 A>T	14	102482368	102482368	A	T	DYNC1H1	c.7418A>T	NM_001376.5	NP_001367.2:p.(Asn2473Ile)	NC_000014.8:g.102482368A>T	VUS	1 lab	94e568fc6d
15:89402596 ACAN T>G	15	89402596	89402596	T	G	ACAN	c.6780T>G	NM_013227.4	NP_037359.3:p.(Ala2260=)	NC_000015.9:g.89402596T>G	(Likely) benign	1 lab	94e8662e57
19:38937141 RYR1 C>T	19	38937141	38937141	C	T	RYR1	c.661C>T	NM_000540.3	NP_000531.2:p.(Leu221Phe)	NC_000019.9:g.38937141C>T	VUS	1 lab	94ea740a05
8:61769061 CHD7 G>T	8	61769061	61769061	G	T	CHD7	c.7222G>T	NM_017780.4	NP_060250.2:p.(Glu2408Ter)	NC_000008.10:g.61769061G>T	(Likely) pathogenic	1 lab	94ebbbe03a
4:1075271 RNF212 C>T	4	1075271	1075271	C	T	RNF212	c.416-16G>A	NM_001131034.4	NP_001124506.1:p.?	NC_000004.11:g.1075271C>T	(Likely) benign	1 lab	94ebe558b8
X:135126891 SLC9A6 A>T	X	135126891	135126891	A	T	SLC9A6	c.*8A>T	NM_001042537.2	NP_001036002.1:p.?	NC_000023.10:g.135126891A>T	(Likely) benign	1 lab	94f0300821
X:70352617 MED12 CCTCTTCTCTTCTCTTCTCTT>C	X	70352617	70352679	CCTCTTCTCTTCTCTTCTCTT	C	MED12	c.4416-35_4416-16del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352660_70352679del	(Likely) benign	1 lab	94f346001b
10:43602011 RET A>G	10	43602011	43602011	A	G	RET	c.1055A>G	NM_020975.6	NP_066124.1:p.(His352Arg)	NC_000010.10:g.43602011A>G	VUS	1 lab	94f39ca850
12:7052974 ATN1 C>T	12	7052974	7052974	C	T	ATN1				NC_000012.11:g.7052974C>T	(Likely) benign	1 lab	94f3a68d5f
2:179432536 TTN T>C	2	179432536	179432536	T	C	TTN	c.78323A>G	NM_001267550.2	NP_001254479.2:p.(Gln26108Arg)	NC_000002.11:g.179432536T>C	VUS	1 lab	94f4c373ad
2:179440600 TTN G>A	2	179440600	179440600	G	A	TTN	c.70259C>T	NM_001267550.2	NP_001254479.2:p.(Pro23420Leu)	NC_000002.11:g.179440600G>A	VUS	1 lab	94f6ad9cc4
1:237972212 RYR2 C>T	1	237972212	237972212	C	T	RYR2	c.14310C>T	NM_001035.3	NP_001026.2:p.(Thr4770=)	NC_000001.10:g.237972212C>T	(Likely) benign	1 lab	94f8b54eb1
2:179396818 TTN A>G	2	179396818	179396818	A	G	TTN	c.104524T>C	NM_001267550.2	NP_001254479.2:p.(Ser34842Pro)	NC_000002.11:g.179396818A>G	VUS	1 lab	94fd6970b9
7:139653196 TBXAS1 A>C	7	139653196	139653196	A	C	TBXAS1	c.480=	NM_001130966.5	NP_001124438.2:p.(Asp160=)	NC_000007.13:g.139653196A>C	(Likely) benign	1 lab	9501eee7a5
16:88798147 PIEZO1 G>C	16	88798147	88798147	G	C	PIEZO1	c.3163C>G	NM_001142864.4	NP_001136336.2:p.(Leu1055Val)	NC_000016.9:g.88798147G>C	VUS	1 lab	950b355f2e
2:179634900 TTN A>G	2	179634900	179634900	A	G	TTN	c.8528T>C	NM_001267550.2	NP_001254479.2:p.(Val2843Ala)	NC_000002.11:g.179634900A>G	VUS	1 lab	950f3c387e
16:2138253 TSC2 G>A	16	2138253	2138253	G	A	TSC2	c.5186G>A	NM_000548.5	NP_000539.2:p.(Arg1729His)	NC_000016.9:g.2138253G>A	(Likely) benign	1 lab	950f6d733c
5:11364900 CTNND2 C>T	5	11364900	11364900	C	T	CTNND2	c.1280G>A	NM_001332.4	NP_001323.1:p.(Arg427His)	NC_000005.9:g.11364900C>T	VUS	1 lab	950fb9055d
2:152388415 NEB AT>A	2	152388415	152388417	AT	A	NEB	c.21523-6del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152388417del	(Likely) benign	1 lab	9510cecd8b
6:137540370 IFNGR1 A>G	6	137540370	137540370	A	G	IFNGR1	c.85+10T>C	NM_000416.3	NP_000407.1:p.?	NC_000006.11:g.137540370A>G	(Likely) benign	1 lab	9511e87d24
6:170871051 TBP AG>A	6	170871051	170871052	AG	A	TBP	c.228del	NM_003194.5	NP_003185.1:p.(Gln76HisfsTer68)	NC_000006.11:g.170871052del	(Likely) benign	1 lab	9511fa9d81
22:50962605 SCO2 C>G	22	50962605	50962605	C	G	SCO2	c.236G>C	NM_001169109.2	NP_001162580.1:p.(Arg79Thr)	NC_000022.10:g.50962605C>G	(Likely) benign	1 lab	951301a29d
3:158399757 GFM1 A>AT	3	158399757	158399767	A	AT	GFM1	c.1602-17dup	NM_024996.7	NP_079272.4:p.?	NC_000003.11:g.158399767dup	(Likely) benign	1 lab	9513b1d24d
2:179490083 TTN A>C	2	179490083	179490083	A	C	TTN	c.44465T>G	NM_001267550.2	NP_001254479.2:p.(Leu14822Arg)	NC_000002.11:g.179490083A>C	VUS	1 lab	951692605e
3:48614342 COL7A1 CCTTT>C	3	48614342	48614348	CCTTT	C	COL7A1	c.5575_5578del	NM_000094.4	NP_000085.1:p.(Lys1859GlufsTer145)	NC_000003.11:g.48614345_48614348del	(Likely) pathogenic	1 lab	951ac6cd2c
5:78351636 DMGDH A>C	5	78351636	78351636	A	C	DMGDH	c.372T>G	NM_013391.3	NP_037523.2:p.(Gly124=)	NC_000005.9:g.78351636A>C	(Likely) benign	1 lab	951ebe68d2
4:120057678 MYOZ2 A>G	4	120057678	120057678	A	G	MYOZ2	c.-3A>G	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057678A>G	VUS	1 lab	9521a21e18
19:7620610 PNPLA6 C>CGCCA	19	7620610	7620617	C	CGCCA	PNPLA6	c.3088_3091dup	NM_001166111.2	NP_001159583.1:p.(Arg1031GlnfsTer38)	NC_000019.9:g.7620614_7620617dup	(Likely) pathogenic	1 lab	9521e0e025
19:13008647 GCDH A>G	19	13008647	13008647	A	G	GCDH	c.1213A>G	NM_000159.4	NP_000150.1:p.(Met405Val)	NC_000019.9:g.13008647A>G	(Likely) pathogenic	1 lab	9522a2879b
22:40814878 MRTFA C>T	22	40814878	40814878	C	T	MRTFA	c.1864G>A	NM_020831.6	NP_065882.2:p.(Asp622Asn)	NC_000022.10:g.40814878C>T	VUS	1 lab	952550061a
7:150648551 KCNH2 C>T	7	150648551	150648551	C	T	KCNH2	c.1930G>A	NM_000238.4	NP_000229.1:p.(Val644Ile)	NC_000007.13:g.150648551C>T	VUS	1 lab	9526f81901
6:51921703 PKHD1 A>G	6	51921703	51921703	A	G	PKHD1	c.1587T>C	NM_138694.4	NP_619639.3:p.(Asn529=)	NC_000006.11:g.51921703A>G	(Likely) benign	1 lab	952f103b89
7:98786110 KPNA7 G>A	7	98786110	98786110	G	A	KPNA7	c.713C>T	NM_001145715.3	NP_001139187.1:p.(Ala238Val)	NC_000007.13:g.98786110G>A	VUS	1 lab	953146725d
22:23523891 BCR C>G	22	23523891	23523891	C	G	BCR	c.744C>G	NM_004327.4	NP_004318.3:p.(Asp248Glu)	NC_000022.10:g.23523891C>G	VUS	1 lab	9535e3532e
22:31010398 TCN2 C>A	22	31010398	31010398	C	A	TCN2	c.490C>A	NM_000355.4	NP_000346.2:p.(Leu164Met)	NC_000022.10:g.31010398C>A	VUS	1 lab	95474a31ae
7:101840038 CUX1 C>G	7	101840038	101840038	C	G	CUX1	c.1347C>G	NM_181552.4	NP_853530.2:p.(His449Gln)	NC_000007.13:g.101840038C>G	VUS	1 lab	9548c14564
19:11132396 SMARCA4 C>T	19	11132396	11132396	C	T	SMARCA4	c.2617-5C>T	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11132396C>T	(Likely) benign	1 lab	95494068fe
16:14721004 PARN G>A	16	14721004	14721004	G	A	PARN	c.286C>T	NM_002582.4	NP_002573.1:p.(Pro96Ser)	NC_000016.9:g.14721004G>A	VUS	1 lab	9551e35979
5:78340257 DMGDH C>G	5	78340257	78340257	C	G	DMGDH	c.864G>C	NM_013391.3	NP_037523.2:p.(Leu288=)	NC_000005.9:g.78340257C>G	(Likely) benign	1 lab	955440969b
16:23649285 PALB2 A>T	16	23649285	23649285	A	T	PALB2	c.109-12T>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649285A>T	(Likely) pathogenic	1 lab	955441ea60
21:34918578 SON C>T	21	34918578	34918578	C	T	SON	c.137C>T	NM_032195.3	NP_115571.3:p.(Ala46Val)	NC_000021.8:g.34918578C>T	(Likely) benign	1 lab	957a627b24
1:205126417 DSTYK T>A	1	205126417	205126417	T	A	DSTYK	c.2336A>T	NM_015375.3	NP_056190.1:p.(Lys779Ile)	NC_000001.10:g.205126417T>A	VUS	1 lab	9556ca40d2
13:32893263 BRCA2 TCCAC>T	13	32893263	32893269	TCCAC	T	BRCA2	c.120_123del	NM_000059.4	NP_000050.3:p.(Pro41IlefsTer38)	NC_000013.10:g.32893266_32893269del	(Likely) pathogenic	1 lab	955bbc7b58
1:43896761 SZT2 G>A	1	43896761	43896761	G	A	SZT2	c.4745G>A	NM_015284.4	NP_056099.3:p.(Arg1582Gln)	NC_000001.10:g.43896761G>A	VUS	1 lab	955d05cf64
X:53573417 HUWE1 TA>T	X	53573417	53573419	TA	T	HUWE1	c.10894del	NM_031407.7	NP_113584.3:p.(Tyr3632IlefsTer7)	NC_000023.10:g.53573419del	VUS	1 lab	955db0c4fe
X:41007771 USP9X TATC>T	X	41007771	41007776	TATC	T	USP9X	c.1572_1574del	NM_001039590.3	NP_001034679.2:p.(Ile524del)	NC_000023.10:g.41007774_41007776del	VUS	1 lab	95670d59cd
12:52910547 KRT5 G>T	12	52910547	52910547	G	T	KRT5	c.1313C>A	NM_000424.4	NP_000415.2:p.(Ala438Asp)	NC_000012.11:g.52910547G>T	(Likely) pathogenic	1 lab	9567362852
2:179597062 TTN A>C	2	179597062	179597062	A	C	TTN	c.16634T>G	NM_001267550.2	NP_001254479.2:p.(Phe5545Cys)	NC_000002.11:g.179597062A>C	VUS	1 lab	956df546d5
17:78286986 RNF213 G>C	17	78286986	78286986	G	C	RNF213	c.2811+19G>C	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78286986G>C	(Likely) benign	1 lab	9570c11f11
20:49508820 ADNP ACTT>A	20	49508820	49508827	ACTT	A	ADNP	c.2428_2430del	NM_015339.5	NP_056154.1:p.(Lys810del)	NC_000020.10:g.49508825_49508827del	VUS	1 lab	95743b915f
9:35744314 GBA2 G>A	9	35744314	35744314	G	A	GBA2	c.547C>T	NM_020944.3	NP_065995.1:p.(Arg183Trp)	NC_000009.11:g.35744314G>A	VUS	1 lab	95750e3fe3
2:47693756 MSH2 G>C	2	47693756	47693756	G	C	MSH2	c.1511-41G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693756G>C	(Likely) benign	1 lab	957b6223f7
18:25565080 CDH2 A>C	18	25565080	25565080	A	C	CDH2	c.2093T>G	NM_001792.5	NP_001783.2:p.(Val698Gly)	NC_000018.9:g.25565080A>C	VUS	1 lab	957d2b2959
6:157469919 ARID1B C>T	6	157469919	157469919	C	T	ARID1B	c.2962C>T	NM_001371656.1	NP_001358585.1:p.(Gln988Ter)	NC_000006.11:g.157469919C>T	(Likely) pathogenic	1 lab	958a8e6170
8:43053095 HGSNAT G>T	8	43053095	43053095	G	T	HGSNAT	c.1726G>T	NM_152419.3	NP_689632.2:p.(Gly576Ter)	NC_000008.10:g.43053095G>T	(Likely) pathogenic	1 lab	95915e39c5
17:29490348 NF1 C>G	17	29490348	29490348	C	G	NF1	c.433C>G	NM_000267.3	NP_000258.1:p.(Leu145Val)	NC_000017.10:g.29490348C>G	VUS	1 lab	95924b90cb
19:54401783 PRKCG C>A	19	54401783	54401783	C	A	PRKCG	c.1182C>A	NM_002739.5	NP_002730.1:p.(Asp394Glu)	NC_000019.9:g.54401783C>A	VUS	1 lab	959a24c3e3
2:189932831 COL5A2 T>C	2	189932831	189932831	T	C	COL5A2	c.1311A>G	NM_000393.5	NP_000384.2:p.(Pro437=)	NC_000002.11:g.189932831T>C	(Likely) benign	1 lab	959bd65ebd
8:38111224 DDHD2 A>T	8	38111224	38111224	A	T	DDHD2	c.2042A>T	NM_001362912.2	NP_001349841.1:p.(His681Leu)	NC_000008.10:g.38111224A>T	(Likely) pathogenic	1 lab	95a1492013
6:152652597 SYNE1 G>C	6	152652597	152652597	G	C	SYNE1	c.13223C>G	NM_182961.4	NP_892006.3:p.(Ala4408Gly)	NC_000006.11:g.152652597G>C	VUS	1 lab	95a3b31987
X:31645869 DMD T>C	X	31645869	31645869	T	C	DMD	c.8138A>G	NM_004006.3	NP_003997.2:p.(Asn2713Ser)	NC_000023.10:g.31645869T>C	(Likely) benign	1 lab	95a51fc5ed
17:56389516 TSPOAP1 C>T	17	56389516	56389516	C	T	TSPOAP1	c.2666G>A	NM_004758.4	NP_004749.2:p.(Arg889Gln)	NC_000017.10:g.56389516C>T	(Likely) benign	1 lab	95aa69a5da
3:18457614 SATB1 C>T	3	18457614	18457614	C	T	SATB1	c.400G>A	NM_002971.6	NP_002962.1:p.(Val134Ile)	NC_000003.11:g.18457614C>T	VUS	1 lab	95ac07a966
14:105848871 PACS2 C>T	14	105848871	105848871	C	T	PACS2	c.1471C>T	NM_001100913.3	NP_001094383.2:p.(Leu491Phe)	NC_000014.8:g.105848871C>T	VUS	1 lab	95ac20edb0
20:62071007 KCNQ2 T>A	20	62071007	62071007	T	A	KCNQ2	c.871A>T	NM_172107.4	NP_742105.1:p.(Arg291Trp)	NC_000020.10:g.62071007T>A	(Likely) pathogenic	1 lab	95b6bce5ac
13:78493704 EDNRB CG>C	13	78493704	78493705	CG	C	EDNRB	c.46del	NM_001201397.1	NP_001188326.1:p.(Arg16GlyfsTer60)	NC_000013.10:g.78493705del	VUS	1 lab	95b6dc8ff8
18:34298074 FHOD3 A>G	18	34298074	34298074	A	G	FHOD3	c.2288A>G	NM_025135.5	NP_079411.2:p.(Lys763Arg)	NC_000018.9:g.34298074A>G	(Likely) benign	1 lab	95b9373103
8:61769037 CHD7 CGGA>C	8	61769037	61769053	CGGA	C	CHD7	c.7212_7214del	NM_017780.4	NP_060250.2:p.(Arg2405del)	NC_000008.10:g.61769051_61769053del	VUS	1 lab	95b962f660
2:228560673 SLC19A3 A>G	2	228560673	228560673	A	G	SLC19A3	c.1104T>C	NM_025243.4	NP_079519.1:p.(Asn368=)	NC_000002.11:g.228560673A>G	(Likely) benign	1 lab	95b971349c
12:57965883 KIF5A C>T	12	57965883	57965883	C	T	KIF5A	c.1402C>T	NM_004984.4	NP_004975.2:p.(Arg468Trp)	NC_000012.11:g.57965883C>T	VUS	1 lab	95b9855daf
6:101312104 ASCC3 T>C	6	101312104	101312104	T	C	ASCC3	c.91-14A>G	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.101312104T>C	(Likely) benign	1 lab	95bd6ec932
17:48265939 COL1A1 GGCACCAGGA>G	17	48265939	48265965	GGCACCAGGA	G	COL1A1	c.3150_3158del	NM_000088.4	NP_000079.2:p.(Ala1053_Gly1055del)	NC_000017.10:g.48265957_48265965del	(Likely) pathogenic	1 lab	95bf9d4d9c
15:49064681 CEP152 T>A	15	49064681	49064681	T	A	CEP152	c.1782+3A>T	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49064681T>A	(Likely) benign	1 lab	95c91be88b
2:163138939 IFIH1 G>T	2	163138939	163138939	G	T	IFIH1	c.1243C>A	NM_022168.4	NP_071451.2:p.(Gln415Lys)	NC_000002.11:g.163138939G>T	VUS	1 lab	95c934e673
9:73478005 TRPM3 C>A	9	73478005	73478005	C	A	TRPM3	c.-179G>T	NM_020952.6	NP_066003.3:p.?	NC_000009.11:g.73478005C>A	VUS	1 lab	95caddf161
3:71021809 FOXP1 G>GATTA	3	71021809	71021813	G	GATTA	FOXP1	c.1542_1545dup	NM_001244808.3	NP_001231737.1:p.(Leu516Ter)	NC_000003.11:g.71021810_71021813dup	(Likely) pathogenic	1 lab	95d7110e63
17:18161744 FLII C>T	17	18161744	18161744	C	T	FLII	c.30+17G>A	NM_001256264.2	NP_001243193.1:p.?	NC_000017.10:g.18161744C>T	(Likely) benign	1 lab	95d84d069e
2:179439304 TTN G>GA	2	179439304	179439307	G	GA	TTN	c.71554dup	NM_001267550.2	NP_001254479.2:p.(Ser23852PhefsTer2)	NC_000002.11:g.179439307dup	(Likely) pathogenic	1 lab	95d9ab130e
10:88447034 LDB3 G>T	10	88447034	88447034	G	T	LDB3	c.893+5G>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88447034G>T	VUS	1 lab	95da2f2e2b
6:32548581 HLA-DRB1 A>G	6	32548581	32548581	A	G	HLA-DRB1	c.705T>C	NM_002124.4	NP_002115.2:p.(Phe235=)	NC_000006.11:g.32548581A>G	(Likely) benign	1 lab	95dae75c78
1:236907956 ACTN2 A>G	1	236907956	236907956	A	G	ACTN2	c.662A>G	NM_001278344.2	NP_001265273.1:p.(Tyr221Cys)	NC_000001.10:g.236907956A>G	VUS	1 lab	95dd2281d5
16:15812198 MYH11 C>T	16	15812198	15812198	C	T	MYH11	c.5269G>A	NM_002474.3	NP_002465.1:p.(Asp1757Asn)	NC_000016.9:g.15812198C>T	VUS	1 lab	95dfdac677
2:242680430 D2HGDH A>G	2	242680430	242680430	A	G	D2HGDH	c.293-18A>G	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242680430A>G	(Likely) benign	1 lab	95e243c995
X:131212512 FRMD7 A>G	X	131212512	131212512	A	G	FRMD7	c.1533T>C	NM_194277.3	NP_919253.1:p.(Ile511=)	NC_000023.10:g.131212512A>G	(Likely) benign	1 lab	95e27c8db6
7:150649644 KCNH2 C>T	7	150649644	150649644	C	T	KCNH2	c.1426G>A	NM_000238.4	NP_000229.1:p.(Val476Ile)	NC_000007.13:g.150649644C>T	VUS	1 lab	95e79e1fb0
10:69926177 MYPN C>G	10	69926177	69926177	C	G	MYPN	c.1727C>G	NM_032578.4	NP_115967.2:p.(Pro576Arg)	NC_000010.10:g.69926177C>G	VUS	1 lab	95e9ce7432
16:1131181 SSTR5 C>T	16	1131181	1131181	C	T	SSTR5	c.*1218C>T	NM_001053.4	NP_001044.1:p.?	NC_000016.9:g.1131181C>T	(Likely) benign	1 lab	95ea37c9ec
10:68280469 CTNNA3 C>A	10	68280469	68280469	C	A	CTNNA3	c.1437G>T	NM_013266.4	NP_037398.2:p.(Met479Ile)	NC_000010.10:g.68280469C>A	VUS	1 lab	95eb0b436a
6:33419615 SYNGAP1 G>GCCCCCCCCCCC	6	33419615	33419620	G	GCCCCCCCCCCC	SYNGAP1	c.3968_3969insCCCCCCCCCCC	NM_006772.3	NP_006763.2:p.(Pro1327HisfsTer66)	NC_000006.11:g.33419619_33419620insCCCCCCCCCCC	(Likely) benign	1 lab	95f6972883
12:89916811 POC1B C>T	12	89916811	89916811	C	T	POC1B	c.100+2086G>A	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89916811C>T	(Likely) benign	1 lab	95fb3d3bad
6:111652985 REV3L T>C	6	111652985	111652985	T	C	REV3L	c.7928A>G	NM_002912.5	NP_002903.3:p.(Tyr2643Cys)	NC_000006.11:g.111652985T>C	VUS	1 lab	95fc499df1
15:60803515 RORA T>C	15	60803515	60803515	T	C	RORA	c.730A>G	NM_134261.3	NP_599023.1:p.(Ile244Val)	NC_000015.9:g.60803515T>C	VUS	1 lab	960065bb2e
2:179392019 TTN A>G	2	179392019	179392019	A	G	TTN	c.107696T>C	NM_001267550.2	NP_001254479.2:p.(Ile35899Thr)	NC_000002.11:g.179392019A>G	VUS	1 lab	96060efb52
16:30100082 TBX6 C>T	16	30100082	30100082	C	T	TBX6	c.700G>A	NM_004608.4	NP_004599.2:p.(Gly234Arg)	NC_000016.9:g.30100082C>T	VUS	1 lab	960bbf08b8
3:113528180 ATP6V1A A>G	3	113528180	113528180	A	G	ATP6V1A	c.1762-2A>G	NM_001690.4	NP_001681.2:p.?	NC_000003.11:g.113528180A>G	VUS	1 lab	960edc47aa
12:57323335 SDR9C7 C>T	12	57323335	57323335	C	T	SDR9C7	c.563G>A	NM_148897.3	NP_683695.1:p.(Arg188His)	NC_000012.11:g.57323335C>T	VUS	1 lab	96133cfdda
11:124755116 ROBO4 T>A	11	124755116	124755116	T	A	ROBO4	c.2822A>T	NM_019055.6	NP_061928.4:p.(Asp941Val)	NC_000011.9:g.124755116T>A	(Likely) benign	1 lab	9619373b40
16:775852 CCDC78 A>T	16	775852	775852	A	T	CCDC78	c.209T>A	NM_001031737.3	NP_001026907.2:p.(Ile70Asn)	NC_000016.9:g.775852A>T	VUS	1 lab	96196337e8
14:64610534 SYNE2 C>A	14	64610534	64610534	C	A	SYNE2	c.15351C>A	NM_182914.3	NP_878918.2:p.(Phe5117Leu)	NC_000014.8:g.64610534C>A	VUS	1 lab	961a91dbe7
2:179664277 TTN G>A	2	179664277	179664277	G	A	TTN	c.851C>T	NM_001267550.2	NP_001254479.2:p.(Ser284Leu)	NC_000002.11:g.179664277G>A	VUS	1 lab	96229d66bf
3:45869987 LZTFL1 C>T	3	45869987	45869987	C	T	LZTFL1	c.721G>A	NM_020347.4	NP_065080.1:p.(Ala241Thr)	NC_000003.11:g.45869987C>T	VUS	1 lab	9626982fc8
2:179407065 TTN C>T	2	179407065	179407065	C	T	TTN	c.97418G>A	NM_001267550.2	NP_001254479.2:p.(Arg32473His)	NC_000002.11:g.179407065C>T	(Likely) benign	1 lab	962903c88b
17:29549019 NF1 C>T	17	29549019	29549019	C	T	NF1	c.*11C>T	NM_001128147.3	NP_001121619.1:p.?	NC_000017.10:g.29549019C>T	(Likely) benign	1 lab	962b9497d5
22:19950045 COMT T>A	22	19950045	19950045	T	A	COMT	c.-5T>A	NM_001362828.2	NP_001349757.1:p.?	NC_000022.10:g.19950045T>A	VUS	1 lab	962c10c019
17:29576005 NF1 A>T	17	29576005	29576005	A	T	NF1	c.3978A>T	NM_000267.3	NP_000258.1:p.(Leu1326Phe)	NC_000017.10:g.29576005A>T	VUS	1 lab	962cf3f4ad
12:102131737 SYCP3 AAAACAAATTTCTTTAACC>A	12	102131737	102131755	AAAACAAATTTCTTTAACC	A	SYCP3	c.-13-29_-13-12del	NM_153694.5	NP_710161.1:p.?	NC_000012.11:g.102131738_102131755del	(Likely) benign	1 lab	962d1a0852
5:58270686 PDE4D C>A	5	58270686	58270686	C	A	PDE4D	c.2235G>T	NM_001104631.2	NP_001098101.1:p.(Glu745Asp)	NC_000005.9:g.58270686C>A	(Likely) benign	1 lab	964cec7844
14:21826511 SUPT16H C>T	14	21826511	21826511	C	T	SUPT16H	c.2377G>A	NM_007192.4	NP_009123.1:p.(Glu793Lys)	NC_000014.8:g.21826511C>T	VUS	1 lab	9636e0f2c2
3:129196918 IFT122 A>C	3	129196918	129196918	A	C	IFT122	c.1360A>C	NM_052985.4	NP_443711.2:p.(Ile454Leu)	NC_000003.11:g.129196918A>C	VUS	1 lab	963b1b6e4d
11:102482626 MMP20 T>G	11	102482626	102482626	T	G	MMP20	c.383A>C	NM_004771.4	NP_004762.2:p.(Lys128Thr)	NC_000011.9:g.102482626T>G	VUS	1 lab	963c79dba0
20:42788955 JPH2 G>A	20	42788955	42788955	G	A	JPH2	c.472C>T	NM_020433.5	NP_065166.2:p.(Pro158Ser)	NC_000020.10:g.42788955G>A	VUS	1 lab	963f508625
12:9006811 A2ML1 G>A	12	9006811	9006811	G	A	A2ML1	c.2678G>A	NM_144670.6	NP_653271.3:p.(Arg893Gln)	NC_000012.11:g.9006811G>A	(Likely) benign	1 lab	96403d1836
11:47354780 MYBPC3 C>G	11	47354780	47354780	C	G	MYBPC3	c.3295G>C	NM_000256.3	NP_000247.2:p.(Gly1099Arg)	NC_000011.9:g.47354780C>G	VUS	1 lab	9641a676e7
9:2060986 SMARCA2 G>A	9	2060986	2060986	G	A	SMARCA2	c.1692G>A	NM_003070.5	NP_003061.3:p.(Lys564=)	NC_000009.11:g.2060986G>A	(Likely) benign	1 lab	9647aee246
2:176957822 HOXD13 G>GGCGGCA	2	176957822	176957830	G	GGCGGCA	HOXD13	c.207_212dup	NM_000523.4	NP_000514.2:p.(Ala70_Ala71dup)	NC_000002.11:g.176957825_176957830dup	(Likely) benign	1 lab	b2d27b5145
X:44945140 KDM6A T>G	X	44945140	44945140	T	G	KDM6A	c.3464T>G	NM_021140.4	NP_066963.2:p.(Val1155Gly)	NC_000023.10:g.44945140T>G	VUS	1 lab	9649a85cf5
1:43893918 SZT2 C>G	1	43893918	43893918	C	G	SZT2	c.3756C>G	NM_015284.4	NP_056099.3:p.(Phe1252Leu)	NC_000001.10:g.43893918C>G	VUS	1 lab	964a486be2
4:103531841 NFKB1 G>A	4	103531841	103531841	G	A	NFKB1	c.2337G>A	NM_003998.4	NP_003989.2:p.(Met779Ile)	NC_000004.11:g.103531841G>A	(Likely) benign	1 lab	964cecccaa
17:41249308 BRCA1 T>TA	17	41249308	41249314	T	TA	BRCA1	c.548-3dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249314dup	(Likely) benign	1 lab	964e7eb0a8
2:179422601 TTN C>T	2	179422601	179422601	C	T	TTN	c.87480G>A	NM_001267550.2	NP_001254479.2:p.(Glu29160=)	NC_000002.11:g.179422601C>T	(Likely) benign	1 lab	964f1e3f43
3:48626076 COL7A1 CGTAGT>C	3	48626076	48626082	CGTAGT	C	COL7A1	c.2581_2585del	NM_000094.4	NP_000085.1:p.(Thr861AlafsTer3)	NC_000003.11:g.48626078_48626082del	(Likely) pathogenic	1 lab	965b9f8801
5:50680510 ISL1 G>A	5	50680510	50680510	G	A	ISL1	c.164G>A	NM_002202.3	NP_002193.2:p.(Ser55Asn)	NC_000005.9:g.50680510G>A	VUS	1 lab	965c7d4339
8:144904043 PUF60 G>T	8	144904043	144904043	G	T	PUF60	c.152C>A	NM_078480.3	NP_510965.1:p.(Ala51Asp)	NC_000008.10:g.144904043G>T	VUS	1 lab	965e198ca3
20:6064744 FERMT1 C>A	20	6064744	6064744	C	A	FERMT1	c.1661G>T	NM_017671.5	NP_060141.3:p.(Arg554Leu)	NC_000020.10:g.6064744C>A	(Likely) benign	1 lab	965f19e195
7:83047724 SEMA3E A>C	7	83047724	83047724	A	C	SEMA3E	c.532T>G	NM_012431.3	NP_036563.1:p.(Phe178Val)	NC_000007.13:g.83047724A>C	(Likely) benign	1 lab	96630ad2d6
11:75728018 UVRAG A>G	11	75728018	75728018	A	G	UVRAG	c.1220A>G	NM_003369.4	NP_003360.2:p.(Glu407Gly)	NC_000011.9:g.75728018A>G	VUS	1 lab	966408cc10
15:89444912 MFGE8 G>A	15	89444912	89444912	G	A	MFGE8	c.740C>T	NM_005928.4	NP_005919.2:p.(Thr247Met)	NC_000015.9:g.89444912G>A	VUS	1 lab	9665015761
6:31915151 CFB C>A	6	31915151	31915151	C	A	CFB	c.511C>A	NM_001710.6	NP_001701.2:p.(Pro171Thr)	NC_000006.11:g.31915151C>A	VUS	1 lab	9667f1ec6b
16:11073195 CLEC16A C>T	16	11073195	11073195	C	T	CLEC16A	c.913C>T	NM_015226.3	NP_056041.1:p.(Arg305Trp)	NC_000016.9:g.11073195C>T	VUS	1 lab	966aa1c7e5
2:27464814 CAD C>T	2	27464814	27464814	C	T	CAD	c.5919C>T	NM_004341.5	NP_004332.2:p.(Ser1973=)	NC_000002.11:g.27464814C>T	(Likely) benign	1 lab	966ca6c017
21:44838905 SIK1 C>T	21	44838905	44838905	C	T	SIK1	c.1458G>A	NM_173354.5	NP_775490.2:p.(Ala486=)	NC_000021.8:g.44838905C>T	(Likely) benign	1 lab	966de7bc7c
7:151483507 PRKAG2 C>T	7	151483507	151483507	C	T	PRKAG2	c.186+49G>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151483507C>T	(Likely) benign	1 lab	96701b4d94
X:17750076 NHS C>G	X	17750076	17750076	C	G	NHS	c.4385C>G	NM_198270.4	NP_938011.1:p.(Ser1462Cys)	NC_000023.10:g.17750076C>G	VUS	1 lab	96723d9ee9
11:5269585 HBG1 GA>G	11	5269585	5269586	GA	G	HBG1	c.*3del	NM_000559.3	NP_000550.2:p.?	NC_000011.9:g.5269586del	(Likely) benign	1 lab	9672d8ab09
15:56387617 RFX7 T>G	15	56387617	56387617	T	G	RFX7	c.2309A>C	NM_022841.7	NP_073752.6:p.(Asp770Ala)	NC_000015.9:g.56387617T>G	VUS	1 lab	96745a515b
11:102819870 MMP13 T>C	11	102819870	102819870	T	C	MMP13	c.935A>G	NM_002427.4	NP_002418.1:p.(His312Arg)	NC_000011.9:g.102819870T>C	VUS	1 lab	96833f4b11
17:17697093 RAI1 CCAGCAGCAGCAGCAGCAG>C	17	17697093	17697134	CCAGCAGCAGCAGCAGCAG	C	RAI1	c.855_872del	NM_030665.4	NP_109590.3:p.(Gln286_Gln291del)	NC_000017.10:g.17697117_17697134del	(Likely) benign	1 lab	96834615ed
22:28195606 MN1 TGCTGCTGCTGCTGCTGGG>T	22	28195606	28195653	TGCTGCTGCTGCTGCTGGG	T	MN1	c.908_925del	NM_002430.3	NP_002421.3:p.(Pro303_Gln308del)	NC_000022.10:g.28195636_28195653del	VUS	1 lab	96851985b0
X:47307698 ZNF41 C>T	X	47307698	47307698	C	T	ZNF41	c.1471G>A	NM_153380.3	NP_700359.1:p.(Gly491Arg)	NC_000023.10:g.47307698C>T	VUS	1 lab	9689a457b2
11:118344600 KMT2A G>A	11	118344600	118344600	G	A	KMT2A	c.2726G>A	NM_001197104.2	NP_001184033.1:p.(Gly909Asp)	NC_000011.9:g.118344600G>A	(Likely) benign	1 lab	968ac068f5
12:70724117 CNOT2 G>T	12	70724117	70724117	G	T	CNOT2	c.437G>T	NM_001199303.2	NP_001186232.1:p.(Gly146Val)	NC_000012.11:g.70724117G>T	VUS	1 lab	968c121539
1:236645825 EDARADD C>T	1	236645825	236645825	C	T	EDARADD	c.494C>T	NM_080738.4	NP_542776.1:p.(Thr165Met)	NC_000001.10:g.236645825C>T	VUS	1 lab	968dc9b425
1:236900510 ACTN2 G>C	1	236900510	236900510	G	C	ACTN2	c.248G>C	NM_001278344.2	NP_001265273.1:p.(Ser83Thr)	NC_000001.10:g.236900510G>C	VUS	1 lab	968e331c5f
8:2044085 MYOM2 A>G	8	2044085	2044085	A	G	MYOM2	c.2126-2A>G	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2044085A>G	VUS	1 lab	969489886a
9:124064299 GSN T>A	9	124064299	124064299	T	A	GSN	c.203T>A	NM_000177.5	NP_000168.1:p.(Leu68Gln)	NC_000009.11:g.124064299T>A	VUS	1 lab	96968480b6
3:12954948 IQSEC1 G>C	3	12954948	12954948	G	C	IQSEC1	c.2338C>G	NM_014869.8	NP_055684.3:p.(Leu780Val)	NC_000003.11:g.12954948G>C	VUS	1 lab	9699e27743
9:98209619 PTCH1 G>A	9	98209619	98209619	G	A	PTCH1	c.3721C>T	NM_001083602.3	NP_001077071.1:p.(Pro1241Ser)	NC_000009.11:g.98209619G>A	(Likely) benign	1 lab	969b98c80c
9:117188566 WHRN C>T	9	117188566	117188566	C	T	WHRN	c.1091=	NM_015404.4	NP_056219.3:p.(His364=)	NC_000009.11:g.117188566C>T	(Likely) benign	1 lab	969e633b11
22:19969075 ARVCF A>G	22	19969075	19969075	A	G	ARVCF	c.555T>C	NM_001670.3	NP_001661.1:p.(Ser185=)	NC_000022.10:g.19969075A>G	(Likely) benign	1 lab	96a5a7f589
X:70680598 TAF1 T>C	X	70680598	70680598	T	C	TAF1	c.5344T>C	NM_004606.5	NP_004597.3:p.(Ser1782Pro)	NC_000023.10:g.70680598T>C	VUS	1 lab	96a68f0911
5:14507307 TRIO G>T	5	14507307	14507307	G	T	TRIO	c.8689G>T	NM_007118.4	NP_009049.2:p.(Gly2897Trp)	NC_000005.9:g.14507307G>T	VUS	1 lab	96ac9b47b6
10:112572056 RBM20 G>C	10	112572056	112572056	G	C	RBM20	c.1901G>C	NM_001134363.3	NP_001127835.2:p.(Arg634Pro)	NC_000010.10:g.112572056G>C	(Likely) pathogenic	1 lab	96acbd3a3a
6:160445616 IGF2R G>A	6	160445616	160445616	G	A	IGF2R	c.526G>A	NM_000876.4	NP_000867.3:p.(Val176Met)	NC_000006.11:g.160445616G>A	VUS	1 lab	96addb0fce
2:179412002 TTN A>G	2	179412002	179412002	A	G	TTN	c.94250T>C	NM_001267550.2	NP_001254479.2:p.(Val31417Ala)	NC_000002.11:g.179412002A>G	VUS	1 lab	96af631347
12:103352171 ASCL1 C>CGCAGCAGCAGCAGCAGCAGCAGCAGCA	12	103352171	103352208	C	CGCAGCAGCAGCAGCAGCAGCAGCAGCA	ASCL1	c.160_186dup	NM_004316.4	NP_004307.2:p.(Gln54_Gln62dup)	NC_000012.11:g.103352182_103352208dup	(Likely) benign	1 lab	96afa9d309
16:16282730 ABCC6 C>A	16	16282730	16282730	C	A	ABCC6	c.1737G>T	NM_001171.6	NP_001162.5:p.(Lys579Asn)	NC_000016.9:g.16282730C>A	VUS	1 lab	96b7271344
15:44876029 SPG11 A>C	15	44876029	44876029	A	C	SPG11	c.5849T>G	NM_025137.4	NP_079413.3:p.(Leu1950Arg)	NC_000015.9:g.44876029A>C	VUS	1 lab	96b770f002
1:154842029 KCNN3 C>T	1	154842029	154842029	C	T	KCNN3	c.412G>A	NM_002249.6	NP_002240.3:p.(Gly138Ser)	NC_000001.10:g.154842029C>T	VUS	1 lab	96b9498e03
8:100844595 VPS13B A>T	8	100844595	100844595	A	T	VPS13B	c.9406-2A>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844595A>T	(Likely) pathogenic	1 lab	96b98eae0a
2:8958822 KIDINS220 T>C	2	8958822	8958822	T	C	KIDINS220	c.207+3A>G	NM_020738.4	NP_065789.1:p.?	NC_000002.11:g.8958822T>C	VUS	1 lab	96bb49ac6a
18:42532916 SETBP1 A>G	18	42532916	42532916	A	G	SETBP1	c.3611A>G	NM_015559.3	NP_056374.2:p.(Asn1204Ser)	NC_000018.9:g.42532916A>G	VUS	1 lab	96bc6aecf3
16:28875172 SH2B1 C>T	16	28875172	28875172	C	T	SH2B1	c.-178C>T	NM_001145795.2	NP_001139267.1:p.?	NC_000016.9:g.28875172C>T	VUS	1 lab	9a6c65b209
7:103275891 RELN G>A	7	103275891	103275891	G	A	RELN	c.2446C>T	NM_005045.4	NP_005036.2:p.(Leu816Phe)	NC_000007.13:g.103275891G>A	VUS	1 lab	96bfcbe590
7:97488569 ASNS A>T	7	97488569	97488569	A	T	ASNS	c.629T>A	NM_183356.4	NP_899199.2:p.(Val210Glu)	NC_000007.13:g.97488569A>T	(Likely) benign	1 lab	96c1818048
11:57563136 CTNND1 G>C	11	57563136	57563136	G	C	CTNND1	c.355G>C	NM_001085458.2	NP_001078927.1:p.(Gly119Arg)	NC_000011.9:g.57563136G>C	VUS	1 lab	96c3b682fd
6:6174830 F13A1 G>A	6	6174830	6174830	G	A	F13A1	c.1730C>T	NM_000129.4	NP_000120.2:p.(Thr577Met)	NC_000006.11:g.6174830G>A	VUS	1 lab	96c3dd4ab3
22:18923745 PRODH G>T	22	18923745	18923745	G	T	PRODH	c.56C>A	NM_016335.6	NP_057419.5:p.(Pro19Gln)	NC_000022.10:g.18923745G>T	(Likely) benign	1 lab	96c47c9cfe
1:145516653 PEX11B CTG>C	1	145516653	145516655	CTG	C	PEX11B	c.11_12del	NM_001184795.1	NP_001171724.1:p.(Leu4GlnfsTer22)	NC_000001.10:g.145516654_145516655del	(Likely) pathogenic	1 lab	96c79ce4d9
2:233386583 PRSS56 T>C	2	233386583	233386583	T	C	PRSS56	c.256+7T>C	NM_001195129.2	NP_001182058.1:p.?	NC_000002.11:g.233386583T>C	(Likely) benign	1 lab	96c95eeac6
8:106815531 ZFPM2 A>G	8	106815531	106815531	A	G	ZFPM2	c.3221A>G	NM_012082.4	NP_036214.2:p.(Lys1074Arg)	NC_000008.10:g.106815531A>G	VUS	1 lab	96ca72e959
7:100283081 GIGYF1 G>A	7	100283081	100283081	G	A	GIGYF1	c.1078C>T	NM_001375765.1	NP_001362694.1:p.(Pro360Ser)	NC_000007.13:g.100283081G>A	VUS	1 lab	96ca9d8698
7:87053289 ABCB4 G>A	7	87053289	87053289	G	A	ABCB4	c.2144C>T	NM_000443.4	NP_000434.1:p.(Thr715Ile)	NC_000007.13:g.87053289G>A	VUS	1 lab	96d2aa413e
X:76918945 ATRX T>A	X	76918945	76918945	T	A	ATRX	c.4046A>T	NM_000489.6	NP_000480.3:p.(Asp1349Val)	NC_000023.10:g.76918945T>A	VUS	1 lab	96d42a4407
X:107438361 COL4A6 A>G	X	107438361	107438361	A	G	COL4A6	c.907-5T>C	NM_001847.4	NP_001838.2:p.?	NC_000023.10:g.107438361A>G	(Likely) benign	1 lab	96d9fc7697
10:104157296 NFKB2 G>A	10	104157296	104157296	G	A	NFKB2	c.515G>A	NM_001077494.3	NP_001070962.1:p.(Arg172Gln)	NC_000010.10:g.104157296G>A	(Likely) benign	1 lab	96e71ec209
21:47532415 COL6A2 G>A	21	47532415	47532415	G	A	COL6A2	c.638G>A	NM_001849.4	NP_001840.3:p.(Arg213His)	NC_000021.8:g.47532415G>A	VUS	1 lab	96ec097fcc
3:52327016 GLYCTK CT>C	3	52327016	52327018	CT	C	GLYCTK	c.1448del	NM_145262.4	NP_660305.2:p.(Phe483SerfsTer2)	NC_000003.11:g.52327018del	(Likely) pathogenic	1 lab	96f3347764
11:46539979 AMBRA1 CA>C	11	46539979	46540004	CA	C	AMBRA1	c.1803-4del	NM_001267782.2	NP_001254711.1:p.?	NC_000011.9:g.46540004del	(Likely) benign	1 lab	96f73cfbb4
2:179639156 TTN G>C	2	179639156	179639156	G	C	TTN	c.6835C>G	NM_001267550.2	NP_001254479.2:p.(Pro2279Ala)	NC_000002.11:g.179639156G>C	VUS	1 lab	96fbdfe493
22:40661332 TNRC6B A>C	22	40661332	40661332	A	C	TNRC6B	c.1098A>C	NM_001162501.2	NP_001155973.1:p.(Gln366His)	NC_000022.10:g.40661332A>C	VUS	1 lab	97016f5de1
5:90072305 ADGRV1 G>C	5	90072305	90072305	G	C	ADGRV1	c.12439G>C	NM_032119.4	NP_115495.3:p.(Ala4147Pro)	NC_000005.9:g.90072305G>C	VUS	1 lab	97036ae46c
6:33140418 COL11A2 G>T	6	33140418	33140418	G	T	COL11A2	c.2791-4C>A	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33140418G>T	(Likely) benign	1 lab	970848b383
6:152545644 SYNE1 CT>C	6	152545644	152545645	CT	C	SYNE1	c.21506del	NM_182961.4	NP_892006.3:p.(Gln7169ArgfsTer30)	NC_000006.11:g.152545645del	(Likely) pathogenic	1 lab	97123cfe73
17:48153780 ITGA3 C>T	17	48153780	48153780	C	T	ITGA3	c.1765C>T	NM_002204.4	NP_002195.1:p.(Arg589Trp)	NC_000017.10:g.48153780C>T	VUS	1 lab	971553ff93
10:16989253 CUBN G>A	10	16989253	16989253	G	A	CUBN	c.5323C>T	NM_001081.4	NP_001072.2:p.(Arg1775Trp)	NC_000010.10:g.16989253G>A	(Likely) benign	1 lab	9718a2f415
X:110576356 DCX C>G	X	110576356	110576356	C	G	DCX	c.974G>C	NM_000555.3	NP_000546.2:p.(Gly325Ala)	NC_000023.10:g.110576356C>G	VUS	1 lab	971d25bab3
1:210856604 KCNH1 T>G	1	210856604	210856604	T	G	KCNH1	c.*19A>C	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210856604T>G	(Likely) benign	1 lab	971e61360c
3:130714934 ATP2C1 T>C	3	130714934	130714934	T	C	ATP2C1	c.2105T>C	NM_014382.5	NP_055197.2:p.(Phe702Ser)	NC_000003.11:g.130714934T>C	VUS	1 lab	9723dd8e40
6:121452864 TBC1D32 T>A	6	121452864	121452864	T	A	TBC1D32	c.2808A>T	NM_152730.6	NP_689943.4:p.(Lys936Asn)	NC_000006.11:g.121452864T>A	VUS	1 lab	9723f5dd65
2:179398546 TTN T>TTATA	2	179398546	179398547	T	TTATA	TTN	c.102795_102796insTATA	NM_001267550.2	NP_001254479.2:p.(Asn34266TyrfsTer3)	NC_000002.11:g.179398546_179398547insTATA	(Likely) pathogenic	1 lab	97253f078d
19:45873404 ERCC2 G>A	19	45873404	45873404	G	A	ERCC2	c.92C>T	NM_000400.4	NP_000391.1:p.(Thr31Met)	NC_000019.9:g.45873404G>A	VUS	1 lab	97282fb173
7:104753240 KMT2E AC>A	7	104753240	104753245	AC	A	KMT2E	c.5042del	NM_182931.3	NP_891847.1:p.(Pro1681HisfsTer31)	NC_000007.13:g.104753245del	(Likely) pathogenic	1 lab	972a42479b
2:145157432 ZEB2 A>C	2	145157432	145157432	A	C	ZEB2	c.1322T>G	NM_014795.4	NP_055610.1:p.(Val441Gly)	NC_000002.11:g.145157432A>C	VUS	1 lab	972d16bd75
17:78082356 GAA G>A	17	78082356	78082356	G	A	GAA	c.1144G>A	NM_000152.5	NP_000143.2:p.(Ala382Thr)	NC_000017.10:g.78082356G>A	VUS	1 lab	972d59bad9
X:123224491 STAG2 T>C	X	123224491	123224491	T	C	STAG2	c.3344T>C	NM_001042749.2	NP_001036214.1:p.(Met1115Thr)	NC_000023.10:g.123224491T>C	VUS	1 lab	972ec808bc
10:71142254 HK1 G>A	10	71142254	71142254	G	A	HK1	c.1277G>A	NM_000188.3	NP_000179.2:p.(Arg426His)	NC_000010.10:g.71142254G>A	VUS	1 lab	97331ce941
12:7050147 ATN1 C>T	12	7050147	7050147	C	T	ATN1	c.3319C>T	NM_001007026.2	NP_001007027.1:p.(Pro1107Ser)	NC_000012.11:g.7050147C>T	VUS	1 lab	973832b5da
8:145000021 PLEC C>CGCTCCTCTGCCCGCTGCT	8	145000021	145000043	C	CGCTCCTCTGCCCGCTGCT	PLEC	c.4139_4156dup	NM_000445.5	NP_000436.2:p.(Gln1380_Glu1385dup)	NC_000008.10:g.145000026_145000043dup	VUS	1 lab	973e06e23d
18:47375981 MYO5B T>C	18	47375981	47375981	T	C	MYO5B	c.4271A>G	NM_001080467.3	NP_001073936.1:p.(Lys1424Arg)	NC_000018.9:g.47375981T>C	VUS	1 lab	9742bf4ba1
X:48932544 WDR45 T>G	X	48932544	48932544	T	G	WDR45	c.1004A>C	NM_007075.4	NP_009006.2:p.(Lys335Thr)	NC_000023.10:g.48932544T>G	VUS	1 lab	974410d5e7
12:113355485 OAS1 G>T	12	113355485	113355485	G	T	OAS1	c.1018G>T	NM_016816.4	NP_058132.2:p.(Val340Leu)	NC_000012.11:g.113355485G>T	VUS	1 lab	97449d8cd1
16:51173582 SALL1 A>T	16	51173582	51173582	A	T	SALL1	c.2551T>A	NM_002968.3	NP_002959.2:p.(Leu851Ile)	NC_000016.9:g.51173582A>T	(Likely) benign	1 lab	9746591445
21:43221699 PRDM15 C>T	21	43221699	43221699	C	T	PRDM15	c.3127G>A	NM_001040424.3	NP_001035514.2:p.(Val1043Met)	NC_000021.8:g.43221699C>T	VUS	1 lab	974781e7a8
14:24723979 TGM1 A>C	14	24723979	24723979	A	C	TGM1	c.1979T>G	NM_000359.3	NP_000350.1:p.(Val660Gly)	NC_000014.8:g.24723979A>C	VUS	1 lab	97490e2767
2:179426184 TTN A>ATAC	2	179426184	179426187	A	ATAC	TTN	c.84672_84674dup	NM_001267550.2	NP_001254479.2:p.(Tyr28225Ter)	NC_000002.11:g.179426185_179426187dup	(Likely) pathogenic	1 lab	974b957641
3:130649377 ATP2C1 G>A	3	130649377	130649377	G	A	ATP2C1	c.117+7G>A	NM_001199179.3	NP_001186108.1:p.?	NC_000003.11:g.130649377G>A	(Likely) benign	1 lab	974d147b20
10:95111507 MYOF T>C	10	95111507	95111507	T	C	MYOF	c.3578A>G	NM_013451.4	NP_038479.1:p.(Asp1193Gly)	NC_000010.10:g.95111507T>C	VUS	1 lab	974dcdb9ef
X:153171603 AVPR2 G>A	X	153171603	153171603	G	A	AVPR2	c.643G>A	NM_001146151.3	NP_001139623.1:p.(Val215Met)	NC_000023.10:g.153171603G>A	(Likely) benign	1 lab	974f7f100d
2:179395821 TTN CG>C	2	179395821	179395824	CG	C	TTN	c.105520del	NM_001267550.2	NP_001254479.2:p.(Arg35174AlafsTer4)	NC_000002.11:g.179395824del	(Likely) pathogenic	1 lab	97510efb7b
6:161970012 PRKN A>G	6	161970012	161970012	A	G	PRKN	c.957T>C	NM_004562.3	NP_004553.2:p.(Gly319=)	NC_000006.11:g.161970012A>G	(Likely) benign	1 lab	97566932c9
6:143792078 PEX3 C>G	6	143792078	143792078	C	G	PEX3	c.332-20C>G	NM_003630.3	NP_003621.1:p.?	NC_000006.11:g.143792078C>G	(Likely) benign	1 lab	9757e92cba
4:9922130 SLC2A9 C>T	4	9922130	9922130	C	T	SLC2A9	c.794G>A	NM_001001290.2	NP_001001290.1:p.(Arg265His)	NC_000004.11:g.9922130C>T	(Likely) benign	1 lab	975b8295dd
10:127455397 MMP21 T>C	10	127455397	127455397	T	C	MMP21	c.1544A>G	NM_147191.1	NP_671724.1:p.(Tyr515Cys)	NC_000010.10:g.127455397T>C	VUS	1 lab	97600fc92c
6:129588259 LAMA2 G>T	6	129588259	129588259	G	T	LAMA2	c.2217G>T	NM_000426.4	NP_000417.3:p.(Trp739Cys)	NC_000006.11:g.129588259G>T	(Likely) benign	1 lab	9764dcd032
15:66777423 MAP2K1 CCCT>C	15	66777423	66777431	CCCT	C	MAP2K1	c.795_797del	NM_002755.4	NP_002746.1:p.(Pro266del)	NC_000015.9:g.66777429_66777431del	VUS	1 lab	97677ae26b
9:130941121 CIZ1 T>C	9	130941121	130941121	T	C	CIZ1	c.1455A>G	NM_001257975.2	NP_001244904.1:p.(Val485=)	NC_000009.11:g.130941121T>C	(Likely) benign	1 lab	976bce3072
3:142281612 ATR A>G	3	142281612	142281612	A	G	ATR	c.632T>C	NM_001184.4	NP_001175.2:p.(Met211Thr)	NC_000003.11:g.142281612A>G	(Likely) benign	1 lab	9771613fca
1:12034780 PLOD1 A>G	1	12034780	12034780	A	G	PLOD1	c.2099A>G	NM_000302.4	NP_000293.2:p.(His700Arg)	NC_000001.10:g.12034780A>G	(Likely) pathogenic	1 lab	977e3b55e4
21:46875803 COL18A1 G>A	21	46875803	46875803	G	A	COL18A1	c.107-12353G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875803G>A	VUS	1 lab	97810e155c
18:6999628 LAMA1 T>C	18	6999628	6999628	T	C	LAMA1	c.4479A>G	NM_005559.4	NP_005550.2:p.(Ser1493=)	NC_000018.9:g.6999628T>C	(Likely) benign	1 lab	9781f9686f
8:61754482 CHD7 T>TG	8	61754482	61754484	T	TG	CHD7	c.4723dup	NM_017780.4	NP_060250.2:p.(Glu1575GlyfsTer8)	NC_000008.10:g.61754484dup	(Likely) pathogenic	1 lab	9785c5dd82
19:50102639 PRR12 C>G	19	50102639	50102639	C	G	PRR12	c.3789C>G	NM_020719.3	NP_065770.1:p.(Ile1263Met)	NC_000019.9:g.50102639C>G	VUS	1 lab	9787659e9e
8:144992647 PLEC G>A	8	144992647	144992647	G	A	PLEC	c.11423C>T	NM_000445.5	NP_000436.2:p.(Ser3808Leu)	NC_000008.10:g.144992647G>A	VUS	1 lab	978aa06039
12:52681080 KRT81 G>A	12	52681080	52681080	G	A	KRT81	c.1053C>T	NM_002281.4	NP_002272.2:p.(Ala351=)	NC_000012.11:g.52681080G>A	(Likely) benign	1 lab	978ea49c32
11:108380497 EXPH5 G>T	11	108380497	108380497	G	T	EXPH5	c.5737C>A	NM_015065.3	NP_055880.2:p.(Pro1913Thr)	NC_000011.9:g.108380497G>T	VUS	1 lab	979b2c02df
2:179425655 TTN CTCTT>C	2	179425655	179425663	CTCTT	C	TTN	c.85200_85203del	NM_001267550.2	NP_001254479.2:p.(Arg28401GlnfsTer14)	NC_000002.11:g.179425660_179425663del	(Likely) pathogenic	1 lab	979dcb1060
7:128483623 FLNC GTC>G	7	128483623	128483625	GTC	G	FLNC	c.2804_2805del	NM_001458.5	NP_001449.3:p.(Val935AlafsTer40)	NC_000007.13:g.128483624_128483625del	(Likely) pathogenic	1 lab	979e1c78f5
20:46288186 SULF2 G>A	20	46288186	46288186	G	A	SULF2	c.2539C>T	NM_001161841.2	NP_001155313.1:p.(Arg847Cys)	NC_000020.10:g.46288186G>A	VUS	1 lab	97a5d3d19a
6:170871013 TBP A>ACAG	6	170871013	170871039	A	ACAG	TBP	c.213_215dup	NM_003194.5	NP_003185.1:p.(Gln95dup)	NC_000006.11:g.170871037_170871039dup	(Likely) benign	1 lab	97a94d27f6
5:13717533 DNAH5 C>T	5	13717533	13717533	C	T	DNAH5	c.12596G>A	NM_001369.3	NP_001360.1:p.(Arg4199His)	NC_000005.9:g.13717533C>T	VUS	1 lab	97ade39195
19:11129703 SMARCA4 G>A	19	11129703	11129703	G	A	SMARCA4	c.2505+4G>A	NM_001128849.3	NP_001122321.1:p.?	NC_000019.9:g.11129703G>A	(Likely) benign	1 lab	97aee53afc
3:142266759 ATR C>A	3	142266759	142266759	C	A	ATR	c.3172-7G>T	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142266759C>A	(Likely) benign	1 lab	97b09ea9be
1:8029423 PARK7 G>T	1	8029423	8029423	G	T	PARK7	c.211G>T	NM_007262.5	NP_009193.2:p.(Val71Phe)	NC_000001.10:g.8029423G>T	VUS	1 lab	97b1c3c45f
2:179440028 TTN C>T	2	179440028	179440028	C	T	TTN	c.70831G>A	NM_001267550.2	NP_001254479.2:p.(Ala23611Thr)	NC_000002.11:g.179440028C>T	(Likely) benign	1 lab	97b60ca4d7
2:179590356 TTN T>G	2	179590356	179590356	T	G	TTN	c.20575A>C	NM_001267550.2	NP_001254479.2:p.(Lys6859Gln)	NC_000002.11:g.179590356T>G	VUS	1 lab	97b80e9f90
2:215928934 ABCA12 C>T	2	215928934	215928934	C	T	ABCA12	c.172G>A	NM_173076.3	NP_775099.2:p.(Ala58Thr)	NC_000002.11:g.215928934C>T	VUS	1 lab	97c1d76f7a
22:50962782 SCO2 C>G	22	50962782	50962782	C	G	SCO2	c.59G>C	NM_001169109.2	NP_001162580.1:p.(Arg20Pro)	NC_000022.10:g.50962782C>G	(Likely) benign	1 lab	97cf1bd339
14:51206021 NIN A>G	14	51206021	51206021	A	G	NIN	c.5628+5T>C	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51206021A>G	(Likely) benign	1 lab	97d3ccce06
6:75893687 COL12A1 C>A	6	75893687	75893687	C	A	COL12A1	c.1171G>T	NM_004370.6	NP_004361.3:p.(Val391Phe)	NC_000006.11:g.75893687C>A	VUS	1 lab	97d93f046c
16:89341551 ANKRD11 G>T	16	89341551	89341551	G	T	ANKRD11	c.7519C>A	NM_013275.6	NP_037407.4:p.(Gln2507Lys)	NC_000016.9:g.89341551G>T	(Likely) benign	1 lab	97dbcb4e1c
3:130717214 ATP2C1 C>T	3	130717214	130717214	C	T	ATP2C1	c.2468C>T	NM_014382.5	NP_055197.2:p.(Ala823Val)	NC_000003.11:g.130717214C>T	VUS	1 lab	97dd254499
14:68229095 ZFYVE26 G>C	14	68229095	68229095	G	C	ZFYVE26	c.6194C>G	NM_015346.4	NP_056161.2:p.(Ala2065Gly)	NC_000014.8:g.68229095G>C	VUS	1 lab	97ddaf3304
22:17590373 IL17RA T>C	22	17590373	17590373	T	C	IL17RA	c.2264T>C	NM_014339.7	NP_055154.3:p.(Leu755Pro)	NC_000022.10:g.17590373T>C	(Likely) benign	1 lab	97e0375eaa
X:153609549 EMD C>A	X	153609549	153609549	C	A	EMD	c.757C>A	NM_000117.3	NP_000108.1:p.(Pro253Thr)	NC_000023.10:g.153609549C>A	VUS	1 lab	97e101af7a
6:42937661 PEX6 C>T	6	42937661	42937661	C	T	PEX6	c.1195G>A	NM_000287.4	NP_000278.3:p.(Ala399Thr)	NC_000006.11:g.42937661C>T	VUS	1 lab	97e1529d4f
5:179201359 MAML1 G>T	5	179201359	179201359	G	T	MAML1	c.2532G>T	NM_014757.5	NP_055572.1:p.(Met844Ile)	NC_000005.9:g.179201359G>T	VUS	1 lab	97e2889cb4
3:48627074 COL7A1 G>A	3	48627074	48627074	G	A	COL7A1	c.2128C>T	NM_000094.4	NP_000085.1:p.(Pro710Ser)	NC_000003.11:g.48627074G>A	VUS	1 lab	97ea94bbcc
2:122288455 CLASP1 T>C	2	122288455	122288455	T	C	CLASP1	c.196-554A>G	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288455T>C	VUS	1 lab	97eae87b33
3:4747877 ITPR1 G>A	3	4747877	4747877	G	A	ITPR1	c.4639G>A	NM_001168272.2	NP_001161744.1:p.(Val1547Met)	NC_000003.11:g.4747877G>A	(Likely) pathogenic	1 lab	97f3dfb89c
13:32945177 BRCA2 C>A	13	32945177	32945177	C	A	BRCA2	c.8572C>A	NM_000059.4	NP_000050.3:p.(Gln2858Lys)	NC_000013.10:g.32945177C>A	VUS	1 lab	97f6f3bdc1
9:98240459 PTCH1 G>A	9	98240459	98240459	G	A	PTCH1	c.1027C>T	NM_001083602.3	NP_001077071.1:p.(Gln343Ter)	NC_000009.11:g.98240459G>A	(Likely) pathogenic	1 lab	9800c18308
1:39782163 MACF1 G>C	1	39782163	39782163	G	C	MACF1	c.3565G>C	NM_012090.5	NP_036222.3:p.(Asp1189His)	NC_000001.10:g.39782163G>C	VUS	1 lab	98017c15f5
2:109522747 EDAR CT>C	2	109522747	109522755	CT	C	EDAR	c.1024+16del	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109522755del	(Likely) benign	1 lab	98143cbc76
3:10106548 FANCD2 A>AT	3	10106548	10106549	A	AT	FANCD2	c.2158dup	NM_033084.6	NP_149075.2:p.(Ser720PhefsTer27)	NC_000003.11:g.10106549dup	(Likely) pathogenic	1 lab	981affdd1c
8:106456591 ZFPM2 G>C	8	106456591	106456591	G	C	ZFPM2	c.283G>C	NM_012082.4	NP_036214.2:p.(Asp95His)	NC_000008.10:g.106456591G>C	VUS	1 lab	981e56545a
6:31914847 CFB A>G	6	31914847	31914847	A	G	CFB	c.362A>G	NM_001710.6	NP_001701.2:p.(Tyr121Cys)	NC_000006.11:g.31914847A>G	VUS	1 lab	982014f58f
2:48687046 PPP1R21 G>A	2	48687046	48687046	G	A	PPP1R21	c.529G>A	NM_001135629.3	NP_001129101.1:p.(Ala177Thr)	NC_000002.11:g.48687046G>A	VUS	1 lab	9828316d09
19:9406424 ZNF699 C>A	19	9406424	9406424	C	A	ZNF699	c.1656G>T	NM_198535.3	NP_940937.1:p.(Thr552=)	NC_000019.9:g.9406424C>A	(Likely) benign	1 lab	98297c3138
X:151366261 GABRA3 AAG>A	X	151366261	151366269	AAG	A	GABRA3	c.779-6_779-5del	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151366268_151366269del	(Likely) benign	1 lab	9829ac984c
20:62124546 EEF1A2 G>A	20	62124546	62124546	G	A	EEF1A2	c.716C>T	NM_001958.5	NP_001949.1:p.(Thr239Met)	NC_000020.10:g.62124546G>A	VUS	1 lab	982bf7d324
17:73753190 ITGB4 T>C	17	73753190	73753190	T	C	ITGB4	c.5218+2T>C	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73753190T>C	(Likely) pathogenic	1 lab	982cf40301
14:23853663 MYH6 C>T	14	23853663	23853663	C	T	MYH6	c.5553G>A	NM_002471.4	NP_002462.2:p.(Glu1851=)	NC_000014.8:g.23853663C>T	(Likely) benign	1 lab	982deba833
1:237893654 RYR2 G>A	1	237893654	237893654	G	A	RYR2	c.10933G>A	NM_001035.3	NP_001026.2:p.(Ala3645Thr)	NC_000001.10:g.237893654G>A	VUS	1 lab	983211c1ae
2:32368408 SPAST A>G	2	32368408	32368408	A	G	SPAST	c.1540A>G	NM_014946.4	NP_055761.2:p.(Arg514Gly)	NC_000002.11:g.32368408A>G	(Likely) pathogenic	1 lab	9834ab6bfe
6:32632687 HLA-DQB1 A>G	6	32632687	32632687	A	G	HLA-DQB1	c.267T>C	NM_001243961.2	NP_001230890.1:p.(Asp89=)	NC_000006.11:g.32632687A>G	(Likely) benign	1 lab	9839d0bbaa
5:137722294 KDM3B C>T	5	137722294	137722294	C	T	KDM3B	c.1364C>T	NM_016604.4	NP_057688.3:p.(Ser455Leu)	NC_000005.9:g.137722294C>T	VUS	1 lab	983d986a97
2:166900561 SCN1A T>G	2	166900561	166900561	T	G	SCN1A	c.1663-2A>C	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166900561T>G	(Likely) pathogenic	1 lab	9841f6c9ac
11:124794912 HEPACAM C>T	11	124794912	124794912	C	T	HEPACAM	c.139G>A	NM_152722.5	NP_689935.2:p.(Val47Met)	NC_000011.9:g.124794912C>T	VUS	1 lab	9843f1634d
12:51126199 DIP2B G>C	12	51126199	51126199	G	C	DIP2B	c.3861G>C	NM_173602.3	NP_775873.2:p.(Glu1287Asp)	NC_000012.11:g.51126199G>C	VUS	1 lab	984756778d
1:201331511 TNNT2 C>T	1	201331511	201331511	C	T	TNNT2	c.579+3G>A	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201331511C>T	(Likely) benign	1 lab	984aca10b4
15:89398697 ACAN GAAGT>G	15	89398697	89398701	GAAGT	G	ACAN	c.2882_2885del	NM_013227.4	NP_037359.3:p.(Glu961ValfsTer2)	NC_000015.9:g.89398698_89398701del	(Likely) pathogenic	1 lab	984b1f3b75
11:695724 TMEM80 G>C	11	695724	695724	G	C	TMEM80	c.-29G>C	NM_001042463.1	NP_001035928.1:p.?	NC_000011.9:g.695724G>C	VUS	1 lab	984d79c8a8
17:1584324 PRPF8 A>T	17	1584324	1584324	A	T	PRPF8	c.891T>A	NM_006445.4	NP_006436.3:p.(Asn297Lys)	NC_000017.10:g.1584324A>T	VUS	1 lab	984df9d27a
1:1735945 GNB1 C>T	1	1735945	1735945	C	T	GNB1	c.343G>A	NM_002074.5	NP_002065.1:p.(Gly115Ser)	NC_000001.10:g.1735945C>T	VUS	1 lab	984f001593
8:56986729 RPS20 A>G	8	56986729	56986729	A	G	RPS20	c.4-11T>C	NM_001023.4	NP_001014.1:p.?	NC_000008.10:g.56986729A>G	(Likely) benign	1 lab	98404debf6
6:91226237 MAP3K7 G>A	6	91226237	91226237	G	A	MAP3K7	c.1804C>T	NM_145331.3	NP_663304.1:p.(Arg602Ter)	NC_000006.11:g.91226237G>A	VUS	1 lab	9850c525a6
5:141693768 SPRY4 AAACTGTCAG>A	5	141693768	141693779	AAACTGTCAG	A	SPRY4	c.966_*5del	NM_030964.5	NP_112226.2:p.(Ter323ValextTer29)	NC_000005.9:g.141693771_141693779del	VUS	1 lab	9850ca79ae
15:72645431 HEXA A>T	15	72645431	72645431	A	T	HEXA	c.548T>A	NM_000520.6	NP_000511.2:p.(Leu183His)	NC_000015.9:g.72645431A>T	VUS	1 lab	985fb89e92
20:17950545 MGME1 A>T	20	17950545	17950545	A	T	MGME1	c.43A>T	NM_052865.4	NP_443097.1:p.(Ser15Cys)	NC_000020.10:g.17950545A>T	(Likely) benign	1 lab	98607de642
1:115258747 NRAS C>G	1	115258747	115258747	C	G	NRAS	c.35G>C	NM_002524.5	NP_002515.1:p.(Gly12Ala)	NC_000001.10:g.115258747C>G	(Likely) pathogenic	1 lab	98612a313a
X:119560627 LAMP2 G>T	X	119560627	119560627	G	T	LAMP2	c.*4551C>A	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119560627G>T	VUS	1 lab	986331b457
6:79672848 PHIP TC>T	6	79672848	79672849	TC	T	PHIP	c.3500del	NM_017934.7	NP_060404.4:p.(Arg1167LysfsTer6)	NC_000006.11:g.79672849del	(Likely) pathogenic	1 lab	9863c2ec99
19:48184519 BICRA A>G	19	48184519	48184519	A	G	BICRA	c.2092A>G	NM_015711.3	NP_056526.3:p.(Met698Val)	NC_000019.9:g.48184519A>G	VUS	1 lab	98708906e7
19:34263200 CHST8 G>GAGC	19	34263200	34263209	G	GAGC	CHST8	c.514_516dup	NM_022467.3	NP_071912.2:p.(Ser172dup)	NC_000019.9:g.34263207_34263209dup	(Likely) benign	1 lab	9875e40d2f
5:149777942 TCOF1 AAAGAAG>A	5	149777942	149777953	AAAGAAG	A	TCOF1	c.4374_4379del	NM_001135243.2	NP_001128715.1:p.(Lys1459_Lys1460del)	NC_000005.9:g.149777948_149777953del	VUS	1 lab	9878899eb4
14:23894058 MYH7 C>T	14	23894058	23894058	C	T	MYH7	c.2599G>A	NM_000257.4	NP_000248.2:p.(Glu867Lys)	NC_000014.8:g.23894058C>T	VUS	1 lab	987921b8b6
13:35770269 NBEA A>G	13	35770269	35770269	A	G	NBEA	c.5196A>G	NM_001385012.1	NP_001371941.1:p.(Ile1732Met)	NC_000013.10:g.35770269A>G	VUS	1 lab	9880b7309b
12:8667894 CLEC4D C>T	12	8667894	8667894	C	T	CLEC4D	c.91C>T	NM_080387.5	NP_525126.2:p.(Leu31Phe)	NC_000012.11:g.8667894C>T	VUS	1 lab	98847f86a2
9:101904973 TGFBR1 G>A	9	101904973	101904973	G	A	TGFBR1	c.961G>A	NM_004612.4	NP_004603.1:p.(Val321Ile)	NC_000009.11:g.101904973G>A	VUS	1 lab	9885b879e6
22:37452441 KCTD17 C>T	22	37452441	37452441	C	T	KCTD17	c.401C>T	NM_001282684.1	NP_001269613.1:p.(Thr134Met)	NC_000022.10:g.37452441C>T	(Likely) benign	1 lab	9886f7c3b2
13:52511725 ATP7B T>C	13	52511725	52511725	T	C	ATP7B	c.3790A>G	NM_000053.4	NP_000044.2:p.(Met1264Val)	NC_000013.10:g.52511725T>C	VUS	1 lab	988718ffe4
16:2035991 GFER C>T	16	2035991	2035991	C	T	GFER	c.580C>T	NM_005262.3	NP_005253.3:p.(Arg194Cys)	NC_000016.9:g.2035991C>T	(Likely) pathogenic	1 lab	9888cf8763
9:94519683 ROR2 G>A	9	94519683	94519683	G	A	ROR2	c.334C>T	NM_004560.4	NP_004551.2:p.(Arg112Trp)	NC_000009.11:g.94519683G>A	VUS	1 lab	988eccd975
8:145017995 PLEC C>T	8	145017995	145017995	C	T	PLEC	c.194-5135G>A	NM_000445.5	NP_000436.2:p.?	NC_000008.10:g.145017995C>T	VUS	1 lab	9892637b03
2:179425683 TTN G>A	2	179425683	179425683	G	A	TTN	c.85176C>T	NM_001267550.2	NP_001254479.2:p.(Ala28392=)	NC_000002.11:g.179425683G>A	(Likely) benign	1 lab	9898dfac82
18:28712551 DSC1 C>G	18	28712551	28712551	C	G	DSC1	c.2218G>C	NM_024421.2	NP_077739.1:p.(Gly740Arg)	NC_000018.9:g.28712551C>G	VUS	1 lab	989aef6b2d
2:234628292 UGT1A4 A>C	2	234628292	234628292	A	C	UGT1A4	c.826A>C	NM_007120.3	NP_009051.1:p.(Ile276Leu)	NC_000002.11:g.234628292A>C	VUS	1 lab	989c36e0b2
2:241705184 KIF1A C>G	2	241705184	241705184	C	G	KIF1A	c.1684G>C	NM_004321.8	NP_004312.2:p.(Gly562Arg)	NC_000002.11:g.241705184C>G	VUS	1 lab	98a1a6b3a0
X:17746347 NHS C>G	X	17746347	17746347	C	G	NHS	c.4121C>G	NM_001291867.2	NP_001278796.1:p.(Ser1374Cys)	NC_000023.10:g.17746347C>G	VUS	1 lab	98b2be6040
2:30142911 ALK G>T	2	30142911	30142911	G	T	ALK	c.615C>A	NM_004304.5	NP_004295.2:p.(Ser205=)	NC_000002.11:g.30142911G>T	(Likely) benign	1 lab	98bc4f4266
1:7797503 CAMTA1 C>G	1	7797503	7797503	C	G	CAMTA1	c.3531C>G	NM_015215.4	NP_056030.1:p.(Asn1177Lys)	NC_000001.10:g.7797503C>G	(Likely) benign	1 lab	98be80c4b9
X:122562010 GRIA3 T>C	X	122562010	122562010	T	C	GRIA3	c.2076+20T>C	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122562010T>C	(Likely) benign	1 lab	98bf9f4fbc
10:71119757 HK1 G>A	10	71119757	71119757	G	A	HK1	c.331G>A	NM_000188.3	NP_000179.2:p.(Val111Ile)	NC_000010.10:g.71119757G>A	VUS	1 lab	98c0479664
17:41243493 BRCA1 T>C	17	41243493	41243493	T	C	BRCA1	c.4055A>G	NM_007294.4	NP_009225.1:p.(Glu1352Gly)	NC_000017.10:g.41243493T>C	VUS	1 lab	98c22fbbe1
9:37429661 GRHPR A>G	9	37429661	37429661	A	G	GRHPR	c.494-68A>G	NM_012203.2	NP_036335.1:p.?	NC_000009.11:g.37429661A>G	(Likely) benign	1 lab	98c34b6ee2
12:26774175 ITPR2 C>G	12	26774175	26774175	C	G	ITPR2	c.3343G>C	NM_002223.4	NP_002214.2:p.(Asp1115His)	NC_000012.11:g.26774175C>G	VUS	1 lab	98d3a28782
13:100953816 PCCA C>T	13	100953816	100953816	C	T	PCCA	c.1168C>T	NM_000282.4	NP_000273.2:p.(Arg390Cys)	NC_000013.10:g.100953816C>T	VUS	1 lab	98d4743d7a
5:118862901 HSD17B4 A>G	5	118862901	118862901	A	G	HSD17B4	c.1829A>G	NM_001199291.3	NP_001186220.1:p.(His610Arg)	NC_000005.9:g.118862901A>G	VUS	1 lab	98d8bfa9cd
1:224599232 WDR26 G>GTC	1	224599232	224599234	G	GTC	WDR26	c.1054_1055insGA	NM_025160.7	NP_079436.4:p.(Thr352ArgfsTer20)	NC_000001.10:g.224599233_224599234insCT	(Likely) pathogenic	1 lab	98db90d75b
22:32211371 DEPDC5 CT>C	22	32211371	32211393	CT	C	DEPDC5	c.1666+195del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32211393del	(Likely) benign	1 lab	98dba581d4
6:32006855 CYP21A2 C>A	6	32006855	32006855	C	A	CYP21A2	c.293-16C>A	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32006855C>A	(Likely) benign	1 lab	98dbf1d40c
5:14498708 TRIO A>C	5	14498708	14498708	A	C	TRIO	c.8291A>C	NM_007118.4	NP_009049.2:p.(Asp2764Ala)	NC_000005.9:g.14498708A>C	VUS	1 lab	98dc427b98
22:40658045 TNRC6B C>G	22	40658045	40658045	C	G	TNRC6B	c.325C>G	NM_001162501.2	NP_001155973.1:p.(Gln109Glu)	NC_000022.10:g.40658045C>G	VUS	1 lab	98dcc9a7fa
9:130435459 STXBP1 G>T	9	130435459	130435459	G	T	STXBP1	c.1030-1G>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130435459G>T	(Likely) pathogenic	1 lab	98df7d3359
6:32549401 HLA-DRB1 T>C	6	32549401	32549401	T	C	HLA-DRB1	c.585A>G	NM_002124.4	NP_002115.2:p.(Arg195=)	NC_000006.11:g.32549401T>C	(Likely) benign	1 lab	98e12dd926
6:105300262 HACE1 C>CAG	6	105300262	105300264	C	CAG	HACE1	c.77-17_77-16insCT	NM_020771.4	NP_065822.2:p.?	NC_000006.11:g.105300263_105300264insGA	(Likely) benign	1 lab	98e637bf79
2:106690470 ECRG4 C>A	2	106690470	106690470	C	A	ECRG4	c.256C>A	NM_032411.3	NP_115787.1:p.(Gln86Lys)	NC_000002.11:g.106690470C>A	VUS	1 lab	98e8c93d40
6:157470029 ARID1B G>T	6	157470029	157470029	G	T	ARID1B	c.3072G>T	NM_001371656.1	NP_001358585.1:p.(Lys1024Asn)	NC_000006.11:g.157470029G>T	VUS	1 lab	98e8d86d86
17:27042477 RAB34 GT>G	17	27042477	27042478	GT	G	RAB34	c.427del	NM_031934.6	NP_114140.4:p.(Thr143ProfsTer9)	NC_000017.10:g.27042478del	(Likely) pathogenic	1 lab	98f9710248
9:133948703 LAMC3 C>A	9	133948703	133948703	C	A	LAMC3	c.3489C>A	NM_006059.4	NP_006050.3:p.(Ala1163=)	NC_000009.11:g.133948703C>A	(Likely) benign	1 lab	9903dba491
18:47352915 MYO5B T>A	18	47352915	47352915	T	A	MYO5B	c.5473A>T	NM_001080467.3	NP_001073936.1:p.(Asn1825Tyr)	NC_000018.9:g.47352915T>A	VUS	1 lab	9907b85cd9
12:52757037 KRT85 C>T	12	52757037	52757037	C	T	KRT85	c.944G>A	NM_002283.4	NP_002274.1:p.(Arg315His)	NC_000012.11:g.52757037C>T	VUS	1 lab	9907be547b
X:151453212 GABRA3 G>A	X	151453212	151453212	G	A	GABRA3	c.263-5C>T	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151453212G>A	(Likely) benign	1 lab	990ad7fb62
11:77815407 ALG8 G>A	11	77815407	77815407	G	A	ALG8	c.1271C>T	NM_024079.5	NP_076984.2:p.(Ala424Val)	NC_000011.9:g.77815407G>A	VUS	1 lab	990ba53c10
12:57039631 ATP5F1B C>A	12	57039631	57039631	C	A	ATP5F1B	c.117G>T	NM_001686.4	NP_001677.2:p.(Ala39=)	NC_000012.11:g.57039631C>A	(Likely) benign	1 lab	990f306526
X:152957017 SLC6A8 G>A	X	152957017	152957017	G	A	SLC6A8	c.644+9G>A	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152957017G>A	(Likely) benign	1 lab	991156b142
8:145640237 SLC39A4 G>A	8	145640237	145640237	G	A	SLC39A4	c.848C>T	NM_130849.4	NP_570901.3:p.(Ser283Leu)	NC_000008.10:g.145640237G>A	VUS	1 lab	991322ee49
3:48613867 COL7A1 C>A	3	48613867	48613867	C	A	COL7A1	c.5738G>T	NM_000094.4	NP_000085.1:p.(Gly1913Val)	NC_000003.11:g.48613867C>A	(Likely) pathogenic	1 lab	9918c809ad
2:44172552 LRPPRC G>A	2	44172552	44172552	G	A	LRPPRC	c.2215C>T	NM_133259.4	NP_573566.2:p.(Arg739Cys)	NC_000002.11:g.44172552G>A	VUS	1 lab	991e94cc85
13:32914851 BRCA2 CAG>C	13	32914851	32914854	CAG	C	BRCA2	c.6361_6362del	NM_000059.4	NP_000050.3:p.(Glu2121AsnfsTer7)	NC_000013.10:g.32914853_32914854del	(Likely) pathogenic	1 lab	99205b71d5
17:39768709 KRT16 A>AGCT	17	39768709	39768725	A	AGCT	KRT16	c.229_231dup	NM_005557.4	NP_005548.2:p.(Ser77dup)	NC_000017.10:g.39768723_39768725dup	VUS	1 lab	9920f5645e
16:1637288 IFT140 C>T	16	1637288	1637288	C	T	IFT140	c.920G>A	NM_014714.4	NP_055529.2:p.(Arg307Gln)	NC_000016.9:g.1637288C>T	VUS	1 lab	9924737b70
18:21512259 LAMA3 G>A	18	21512259	21512259	G	A	LAMA3	c.8708+4G>A	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21512259G>A	(Likely) benign	1 lab	99269de93d
10:75523623 SEC24C G>A	10	75523623	75523623	G	A	SEC24C	c.1109G>A	NM_004922.4	NP_004913.2:p.(Ser370Asn)	NC_000010.10:g.75523623G>A	(Likely) benign	1 lab	9927a14a74
X:13732218 TRAPPC2 C>T	X	13732218	13732218	C	T	TRAPPC2				NC_000023.10:g.13732218C>T	VUS	1 lab	99334100eb
14:88459451 GALC C>T	14	88459451	88459451	C	T	GALC	c.58G>A	NM_000153.4	NP_000144.2:p.(Ala20Thr)	NC_000014.8:g.88459451C>T	VUS	1 lab	99334483a6
15:89417629 ACAN G>A	15	89417629	89417629	G	A	ACAN	c.7517-7G>A	NM_013227.4	NP_037359.3:p.?	NC_000015.9:g.89417629G>A	(Likely) benign	1 lab	99384d64ce
2:48026642 MSH6 G>A	2	48026642	48026642	G	A	MSH6	c.1520G>A	NM_000179.3	NP_000170.1:p.(Arg507Lys)	NC_000002.11:g.48026642G>A	VUS	1 lab	99415efc2d
8:70539444 SULF1 G>C	8	70539444	70539444	G	C	SULF1	c.1851-1G>C	NM_001128205.2	NP_001121677.1:p.?	NC_000008.10:g.70539444G>C	VUS	1 lab	99426235f6
17:57760526 CLTC G>A	17	57760526	57760526	G	A	CLTC	c.3956G>A	NM_001288653.2	NP_001275582.1:p.(Gly1319Glu)	NC_000017.10:g.57760526G>A	VUS	1 lab	9949160f96
2:220288510 DES C>G	2	220288510	220288510	C	G	DES	c.1256C>G	NM_001927.4	NP_001918.3:p.(Pro419Arg)	NC_000002.11:g.220288510C>G	(Likely) pathogenic	1 lab	994c0b2fcf
9:35074917 FANCG T>C	9	35074917	35074917	T	C	FANCG	c.1636+7A>G	NM_004629.2	NP_004620.1:p.?	NC_000009.11:g.35074917T>C	(Likely) benign	1 lab	994e24be37
1:43912076 SZT2 G>A	1	43912076	43912076	G	A	SZT2	c.8890G>A	NM_015284.4	NP_056099.3:p.(Val2964Ile)	NC_000001.10:g.43912076G>A	VUS	1 lab	994edf9015
1:8045079 PARK7 G>A	1	8045079	8045079	G	A	PARK7	c.535G>A	NM_007262.5	NP_009193.2:p.(Ala179Thr)	NC_000001.10:g.8045079G>A	(Likely) benign	1 lab	9953414728
1:152284903 FLG G>T	1	152284903	152284903	G	T	FLG	c.2459C>A	NM_002016.2	NP_002007.1:p.(Ser820Tyr)	NC_000001.10:g.152284903G>T	VUS	1 lab	9959f9eb0d
1:155449051 ASH1L C>G	1	155449051	155449051	C	G	ASH1L	c.3610G>C	NM_018489.3	NP_060959.2:p.(Gly1204Arg)	NC_000001.10:g.155449051C>G	VUS	1 lab	995c0a64a3
14:103410242 CDC42BPB G>A	14	103410242	103410242	G	A	CDC42BPB	c.4394C>T	NM_006035.4	NP_006026.3:p.(Ala1465Val)	NC_000014.8:g.103410242G>A	VUS	1 lab	995d25aa17
9:138678016 KCNT1 C>CGCCCT	9	138678016	138678040	C	CGCCCT	KCNT1	c.3178-7_3178-3dup	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138678036_138678040dup	(Likely) benign	1 lab	9966207b1e
10:43609104 RET C>A	10	43609104	43609104	C	A	RET	c.1860C>A	NM_020975.6	NP_066124.1:p.(Cys620Ter)	NC_000010.10:g.43609104C>A	(Likely) pathogenic	1 lab	99672b7168
11:108114660 ATM AATT>A	11	108114660	108114663	AATT	A	ATM	c.497-19_497-17del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114661_108114663del	(Likely) benign	1 lab	b7ae4c0d64
5:161324291 GABRA1 A>T	5	161324291	161324291	A	T	GABRA1	c.1234A>T	NM_000806.5	NP_000797.2:p.(Thr412Ser)	NC_000005.9:g.161324291A>T	VUS	1 lab	996a3af7fc
15:28447727 HERC2 CAGCCAAGCACTGGCA>C	15	28447727	28447743	CAGCCAAGCACTGGCA	C	HERC2	c.7231_7245del	NM_004667.6	NP_004658.3:p.(Cys2411_Ala2415del)	NC_000015.9:g.28447729_28447743del	(Likely) benign	1 lab	997019cc11
10:75832598 VCL G>C	10	75832598	75832598	G	C	VCL	c.610G>C	NM_014000.3	NP_054706.1:p.(Val204Leu)	NC_000010.10:g.75832598G>C	VUS	1 lab	9a8ceb3acc
6:143095472 HIVEP2 G>C	6	143095472	143095472	G	C	HIVEP2	c.404C>G	NM_006734.4	NP_006725.3:p.(Ser135Cys)	NC_000006.11:g.143095472G>C	(Likely) benign	1 lab	99738bcdb2
2:179638593 TTN G>A	2	179638593	179638593	G	A	TTN	c.7302C>T	NM_001267550.2	NP_001254479.2:p.(Leu2434=)	NC_000002.11:g.179638593G>A	(Likely) benign	1 lab	9976ad5979
17:68171811 KCNJ2 A>C	17	68171811	68171811	A	C	KCNJ2	c.631A>C	NM_000891.3	NP_000882.1:p.(Met211Leu)	NC_000017.10:g.68171811A>C	VUS	1 lab	9979375475
8:21976550 HR C>T	8	21976550	21976550	C	T	HR	c.3126G>A	NM_005144.5	NP_005135.2:p.(Gly1042=)	NC_000008.10:g.21976550C>T	(Likely) benign	1 lab	997d0fe7eb
9:135172305 SETX A>G	9	135172305	135172305	A	G	SETX	c.5918T>C	NM_015046.7	NP_055861.3:p.(Ile1973Thr)	NC_000009.11:g.135172305A>G	VUS	1 lab	9980e5361a
8:116616863 TRPS1 T>C	8	116616863	116616863	T	C	TRPS1	c.1333A>G	NM_014112.5	NP_054831.2:p.(Ser445Gly)	NC_000008.10:g.116616863T>C	VUS	1 lab	99812d0562
15:60806875 RORA T>C	15	60806875	60806875	T	C	RORA	c.364A>G	NM_134261.3	NP_599023.1:p.(Arg122Gly)	NC_000015.9:g.60806875T>C	VUS	1 lab	9982dc66d2
18:21140408 NPC1 G>A	18	21140408	21140408	G	A	NPC1	c.668C>T	NM_000271.5	NP_000262.2:p.(Ala223Val)	NC_000018.9:g.21140408G>A	VUS	1 lab	998419e077
8:145107390 OPLAH C>T	8	145107390	145107390	C	T	OPLAH	c.3265G>A	NM_017570.5	NP_060040.1:p.(Val1089Ile)	NC_000008.10:g.145107390C>T	(Likely) benign	1 lab	9985a2d12c
11:119216504 C1QTNF5 C>T	11	119216504	119216504	C	T	C1QTNF5	c.-2231G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216504C>T	(Likely) benign	1 lab	99892bb9c6
2:179439824 TTN T>C	2	179439824	179439824	T	C	TTN	c.71035A>G	NM_001267550.2	NP_001254479.2:p.(Arg23679Gly)	NC_000002.11:g.179439824T>C	VUS	1 lab	9989f1f57b
1:1961632 GABRD G>A	1	1961632	1961632	G	A	GABRD	c.1270G>A	NM_000815.5	NP_000806.2:p.(Ala424Thr)	NC_000001.10:g.1961632G>A	VUS	1 lab	998fe02bfa
6:29910371 HLA-A C>T	6	29910371	29910371	C	T	HLA-A	c.41C>T	NM_002116.8	NP_002107.3:p.(Ser14Leu)	NC_000006.11:g.29910371C>T	(Likely) benign	1 lab	9993e9b310
3:50431126 CACNA2D2 T>A	3	50431126	50431126	T	A	CACNA2D2	c.465+414A>T	NM_006030.4	NP_006021.2:p.?	NC_000003.11:g.50431126T>A	VUS	1 lab	999afea44a
2:179563644 TTN A>T	2	179563644	179563644	A	T	TTN	c.30683-3T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563644A>T	(Likely) benign	1 lab	999c55a647
3:10108951 FANCD2 G>A	3	10108951	10108951	G	A	FANCD2	c.2444G>A	NM_033084.6	NP_149075.2:p.(Arg815Gln)	NC_000003.11:g.10108951G>A	(Likely) pathogenic	1 lab	999ce2f434
22:24108310 CHCHD10 C>T	22	24108310	24108310	C	T	CHCHD10	c.409+5G>A	NM_213720.3	NP_998885.1:p.?	NC_000022.10:g.24108310C>T	VUS	1 lab	999f7bcbf2
16:9943819 GRIN2A C>A	16	9943819	9943819	C	A	GRIN2A	c.1123-1G>T	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9943819C>A	(Likely) pathogenic	1 lab	99a61ca21f
X:48767511 SLC35A2 C>A	X	48767511	48767511	C	A	SLC35A2	c.92-238G>T	NM_001042498.3	NP_001035963.1:p.?	NC_000023.10:g.48767511C>A	(Likely) benign	1 lab	99a6e25816
17:39927960 JUP G>A	17	39927960	39927960	G	A	JUP	c.147C>T	NM_002230.4	NP_002221.1:p.(Cys49=)	NC_000017.10:g.39927960G>A	(Likely) benign	1 lab	99a8f48f28
12:40634345 LRRK2 C>T	12	40634345	40634345	C	T	LRRK2	c.632C>T	NM_198578.4	NP_940980.4:p.(Ala211Val)	NC_000012.11:g.40634345C>T	(Likely) benign	1 lab	99ac8d94e2
14:75366635 DLST A>G	14	75366635	75366635	A	G	DLST	c.911A>G	NM_001933.5	NP_001924.2:p.(Asp304Gly)	NC_000014.8:g.75366635A>G	VUS	1 lab	99af7341db
12:52914051 KRT5 C>T	12	52914051	52914051	C	T	KRT5	c.30G>A	NM_000424.4	NP_000415.2:p.(Arg10=)	NC_000012.11:g.52914051C>T	(Likely) benign	1 lab	99b248835b
2:233406099 CHRNG C>A	2	233406099	233406099	C	A	CHRNG	c.366C>A	NM_005199.5	NP_005190.4:p.(Phe122Leu)	NC_000002.11:g.233406099C>A	VUS	1 lab	99b861305d
1:200956118 KIF21B C>T	1	200956118	200956118	C	T	KIF21B	c.3614+6G>A	NM_017596.4	NP_060066.2:p.?	NC_000001.10:g.200956118C>T	(Likely) benign	1 lab	99bb1c817a
18:57147460 CCBE1 A>T	18	57147460	57147460	A	T	CCBE1	c.223T>A	NM_133459.4	NP_597716.1:p.(Cys75Ser)	NC_000018.9:g.57147460A>T	(Likely) pathogenic	1 lab	99bf151785
17:1630208 WDR81 C>T	17	1630208	1630208	C	T	WDR81	c.1955C>T	NM_001163809.2	NP_001157281.1:p.(Pro652Leu)	NC_000017.10:g.1630208C>T	(Likely) benign	1 lab	99c619bcf9
5:156736840 CYFIP2 C>T	5	156736840	156736840	C	T	CYFIP2	c.990C>T	NM_001037333.3	NP_001032410.1:p.(Ser330=)	NC_000005.9:g.156736840C>T	(Likely) benign	1 lab	99c6358856
2:100209871 AFF3 T>A	2	100209871	100209871	T	A	AFF3	c.2252A>T	NM_002285.3	NP_002276.2:p.(Asn751Ile)	NC_000002.11:g.100209871T>A	VUS	1 lab	99cdc05d7f
16:66511627 BEAN1 A>G	16	66511627	66511627	A	G	BEAN1	c.440+14A>G	NM_001178020.3	NP_001171491.1:p.?	NC_000016.9:g.66511627A>G	(Likely) benign	1 lab	99cf8a2303
4:983574 SLC26A1 C>T	4	983574	983574	C	T	SLC26A1	c.1153G>A	NM_213613.4	NP_998778.1:p.(Val385Met)	NC_000004.11:g.983574C>T	VUS	1 lab	99d019da14
X:110987993 ALG13 ACCACCT>A	X	110987993	110988001	ACCACCT	A	ALG13	c.2796_2801del	NM_001099922.3	NP_001093392.1:p.(Pro944_Pro945del)	NC_000023.10:g.110987996_110988001del	(Likely) benign	1 lab	99d354295f
2:179401778 TTN A>G	2	179401778	179401778	A	G	TTN	c.100058T>C	NM_001267550.2	NP_001254479.2:p.(Ile33353Thr)	NC_000002.11:g.179401778A>G	VUS	1 lab	99d604aeb8
3:48626351 COL7A1 C>T	3	48626351	48626351	C	T	COL7A1	c.2392G>A	NM_000094.4	NP_000085.1:p.(Gly798Arg)	NC_000003.11:g.48626351C>T	(Likely) pathogenic	1 lab	99d9564e73
10:104416540 TRIM8 T>C	10	104416540	104416540	T	C	TRIM8	c.1085T>C	NM_030912.3	NP_112174.2:p.(Val362Ala)	NC_000010.10:g.104416540T>C	VUS	1 lab	99dfa8c22c
12:52913668 KRT5 C>T	12	52913668	52913668	C	T	KRT5	c.413G>A	NM_000424.4	NP_000415.2:p.(Gly138Glu)	NC_000012.11:g.52913668C>T	(Likely) benign	1 lab	99e7456767
14:103421004 CDC42BPB C>G	14	103421004	103421004	C	G	CDC42BPB	c.2923G>C	NM_006035.4	NP_006026.3:p.(Glu975Gln)	NC_000014.8:g.103421004C>G	VUS	1 lab	99eb22c09a
4:3209071 HTT G>A	4	3209071	3209071	G	A	HTT	c.6145G>A	NM_002111.8	NP_002102.4:p.(Gly2049Arg)	NC_000004.11:g.3209071G>A	VUS	1 lab	99eb4240f4
X:32486805 DMD T>C	X	32486805	32486805	T	C	DMD	c.2972A>G	NM_004006.3	NP_003997.2:p.(Glu991Gly)	NC_000023.10:g.32486805T>C	VUS	1 lab	99f08b4c45
1:209880156 HSD11B1 A>G	1	209880156	209880156	A	G	HSD11B1	c.322A>G	NM_005525.4	NP_005516.1:p.(Lys108Glu)	NC_000001.10:g.209880156A>G	(Likely) benign	1 lab	99fb537c6b
11:62609092 WDR74 G>T	11	62609092	62609092	G	T	WDR74	c.-349C>A	NM_001369451.1	NP_001356380.1:p.?	NC_000011.9:g.62609092G>T	(Likely) benign	1 lab	99fdaf1e0f
19:13476158 CACNA1A G>A	19	13476158	13476158	G	A	CACNA1A	c.757C>T	NM_023035.3	NP_075461.2:p.(His253Tyr)	NC_000019.9:g.13476158G>A	(Likely) pathogenic	1 lab	9a053b74fe
2:179428856 TTN CAA>C	2	179428856	179428858	CAA	C	TTN	c.82001_82002del	NM_001267550.2	NP_001254479.2:p.(Leu27334ArgfsTer9)	NC_000002.11:g.179428857_179428858del	(Likely) pathogenic	1 lab	9a085d05a4
21:44486479 CBS A>G	21	44486479	44486479	A	G	CBS	c.10T>C	NM_001321072.1	NP_001308001.1:p.(Cys4Arg)	NC_000021.8:g.44486479A>G	(Likely) pathogenic	1 lab	9a0f6a7b31
5:142416741 ARHGAP26 T>C	5	142416741	142416741	T	C	ARHGAP26	c.1145-20T>C	NM_015071.6	NP_055886.1:p.?	NC_000005.9:g.142416741T>C	(Likely) benign	1 lab	9a1237db2b
2:179459353 TTN C>G	2	179459353	179459353	C	G	TTN	c.57868G>C	NM_001267550.2	NP_001254479.2:p.(Asp19290His)	NC_000002.11:g.179459353C>G	VUS	1 lab	9a128c731c
X:10423039 MID1 T>C	X	10423039	10423039	T	C	MID1	c.1526A>G	NM_000381.4	NP_000372.1:p.(Asp509Gly)	NC_000023.10:g.10423039T>C	VUS	1 lab	9a135bbebd
10:135085088 ADAM8 CG>C	10	135085088	135085092	CG	C	ADAM8	c.1227del	NM_001109.5	NP_001100.3:p.(Val410CysfsTer50)	NC_000010.10:g.135085092del	VUS	1 lab	9a14ab5d2c
17:29705947 NF1 T>C	17	29705947	29705947	T	C	NF1				NC_000017.10:g.29705947T>C	(Likely) benign	1 lab	9a151ec071
17:39742899 KRT14 C>T	17	39742899	39742899	C	T	KRT14	c.188G>A	NM_000526.5	NP_000517.3:p.(Cys63Tyr)	NC_000017.10:g.39742899C>T	(Likely) benign	1 lab	9a1ddc1193
14:94962839 SERPINA12 A>G	14	94962839	94962839	A	G	SERPINA12	c.776T>C	NM_173850.4	NP_776249.1:p.(Ile259Thr)	NC_000014.8:g.94962839A>G	VUS	1 lab	9a1f6fd607
2:166903458 SCN1A A>G	2	166903458	166903458	A	G	SCN1A	c.1199T>C	NM_001165963.4	NP_001159435.1:p.(Met400Thr)	NC_000002.11:g.166903458A>G	VUS	1 lab	9a2300b925
2:69379380 ANTXR1 C>G	2	69379380	69379380	C	G	ANTXR1	c.1031C>G	NM_032208.3	NP_115584.1:p.(Pro344Arg)	NC_000002.11:g.69379380C>G	VUS	1 lab	9a23f8106f
16:81279120 BCO1 T>C	16	81279120	81279120	T	C	BCO1	c.105T>C	NM_017429.3	NP_059125.2:p.(Asn35=)	NC_000016.9:g.81279120T>C	(Likely) benign	1 lab	9a2b0350a4
2:179416372 TTN C>T	2	179416372	179416372	C	T	TTN	c.91255G>A	NM_001267550.2	NP_001254479.2:p.(Ala30419Thr)	NC_000002.11:g.179416372C>T	VUS	1 lab	9a2c7987dc
11:6653727 DCHS1 G>A	11	6653727	6653727	G	A	DCHS1	c.3016C>T	NM_003737.4	NP_003728.1:p.(Arg1006Cys)	NC_000011.9:g.6653727G>A	VUS	1 lab	9a33eaa9df
19:49468615 FTL C>G	19	49468615	49468615	C	G	FTL	c.-150C>G	NM_000146.4	NP_000137.2:p.?	NC_000019.9:g.49468615C>G	VUS	1 lab	9a36805b14
14:64469939 SYNE2 G>A	14	64469939	64469939	G	A	SYNE2	c.4288G>A	NM_182914.3	NP_878918.2:p.(Glu1430Lys)	NC_000014.8:g.64469939G>A	VUS	1 lab	9a38597194
18:50936994 DCC T>C	18	50936994	50936994	T	C	DCC	c.3108T>C	NM_005215.4	NP_005206.2:p.(Pro1036=)	NC_000018.9:g.50936994T>C	(Likely) benign	1 lab	9a3afac76a
7:99794820 STAG3 T>C	7	99794820	99794820	T	C	STAG3	c.983T>C	NM_012447.4	NP_036579.2:p.(Ile328Thr)	NC_000007.13:g.99794820T>C	VUS	1 lab	9a3bc2cfda
7:91737802 AKAP9 C>T	7	91737802	91737802	C	T	AKAP9	c.11547-6C>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91737802C>T	(Likely) benign	1 lab	9a4191f158
10:50708599 ERCC6 C>T	10	50708599	50708599	C	T	ERCC6	c.1670G>A	NM_000124.4	NP_000115.1:p.(Arg557His)	NC_000010.10:g.50708599C>T	VUS	1 lab	9a43726313
16:86612732 FOXL1 A>G	16	86612732	86612732	A	G	FOXL1	c.403A>G	NM_005250.3	NP_005241.1:p.(Asn135Asp)	NC_000016.9:g.86612732A>G	VUS	1 lab	9a476a9641
18:32585514 MAPRE2 C>G	18	32585514	32585514	C	G	MAPRE2	c.83C>G	NM_001143827.3	NP_001137299.1:p.(Ser28Ter)	NC_000018.9:g.32585514C>G	VUS	1 lab	9a4b7b0b78
13:78474656 EDNRB C>A	13	78474656	78474656	C	A	EDNRB	c.1085G>T	NM_000115.5	NP_000106.1:p.(Ser362Ile)	NC_000013.10:g.78474656C>A	VUS	1 lab	9a4d679db7
18:32443954 DTNA G>C	18	32443954	32443954	G	C	DTNA	c.1410G>C	NM_001198939.2	NP_001185868.1:p.(Gln470His)	NC_000018.9:g.32443954G>C	VUS	1 lab	9a517fdb4f
1:7737719 CAMTA1 C>T	1	7737719	7737719	C	T	CAMTA1	c.2840C>T	NM_015215.4	NP_056030.1:p.(Ser947Leu)	NC_000001.10:g.7737719C>T	VUS	1 lab	9a560811b0
3:37059089 MLH1 A>G	3	37059089	37059089	A	G	MLH1	c.883A>G	NM_000249.4	NP_000240.1:p.(Ser295Gly)	NC_000003.11:g.37059089A>G	(Likely) pathogenic	1 lab	9a58ea2f59
1:100336151 AGL G>A	1	100336151	100336151	G	A	AGL	c.846+14G>A	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100336151G>A	(Likely) benign	1 lab	9a5e3c6a7f
2:149247255 MBD5 G>T	2	149247255	149247255	G	T	MBD5	c.3355G>T	NM_018328.5	NP_060798.2:p.(Ala1119Ser)	NC_000002.11:g.149247255G>T	(Likely) benign	1 lab	9a6739f6f5
1:8424222 RERE A>G	1	8424222	8424222	A	G	RERE	c.1634T>C	NM_012102.4	NP_036234.3:p.(Ile545Thr)	NC_000001.10:g.8424222A>G	VUS	1 lab	9a67f71b21
12:32945651 PKP2 T>C	12	32945651	32945651	T	C	PKP2	c.2504A>G	NM_004572.4	NP_004563.2:p.(Lys835Arg)	NC_000012.11:g.32945651T>C	VUS	1 lab	9a692db229
3:49160987 LAMB2 T>A	3	49160987	49160987	T	A	LAMB2	c.3875A>T	NM_002292.4	NP_002283.3:p.(Asn1292Ile)	NC_000003.11:g.49160987T>A	VUS	1 lab	9a6cff7779
9:740901 KANK1 C>T	9	740901	740901	C	T	KANK1	c.3663C>T	NM_001256877.3	NP_001243806.1:p.(Phe1221=)	NC_000009.11:g.740901C>T	(Likely) benign	1 lab	9a6ecd36ff
19:36215568 KMT2B G>A	19	36215568	36215568	G	A	KMT2B	c.3365G>A	NM_014727.3	NP_055542.1:p.(Ser1122Asn)	NC_000019.9:g.36215568G>A	VUS	1 lab	9a71e0dc6c
11:93521173 MED17 T>A	11	93521173	93521173	T	A	MED17	c.257T>A	NM_004268.5	NP_004259.3:p.(Val86Glu)	NC_000011.9:g.93521173T>A	VUS	1 lab	9a74c161c5
19:10252846 DNMT1 T>C	19	10252846	10252846	T	C	DNMT1	c.3167A>G	NM_001130823.3	NP_001124295.1:p.(Asn1056Ser)	NC_000019.9:g.10252846T>C	VUS	1 lab	9a7b4e2440
2:179638318 TTN C>T	2	179638318	179638318	C	T	TTN	c.7465G>A	NM_001267550.2	NP_001254479.2:p.(Asp2489Asn)	NC_000002.11:g.179638318C>T	VUS	1 lab	9a836a33c6
11:1480451 BRSK2 G>A	11	1480451	1480451	G	A	BRSK2	c.1969G>A	NM_001256627.2	NP_001243556.1:p.(Gly657Arg)	NC_000011.9:g.1480451G>A	VUS	1 lab	9a8914e1c4
17:78261805 RNF213 A>G	17	78261805	78261805	A	G	RNF213	c.453A>G	NM_001256071.3	NP_001243000.2:p.(Pro151=)	NC_000017.10:g.78261805A>G	(Likely) benign	1 lab	9a89cae2eb
5:137893135 HSPA9 C>T	5	137893135	137893135	C	T	HSPA9	c.1684G>A	NM_004134.7	NP_004125.3:p.(Val562Ile)	NC_000005.9:g.137893135C>T	VUS	1 lab	9a8a86a330
6:42626439 UBR2 T>A	6	42626439	42626439	T	A	UBR2	c.3119T>A	NM_015255.3	NP_056070.1:p.(Leu1040Gln)	NC_000006.11:g.42626439T>A	VUS	1 lab	9a90f7b440
1:161183516 NDUFS2 C>T	1	161183516	161183516	C	T	NDUFS2	c.1290C>T	NM_001166159.2	NP_001159631.1:p.(Ala430=)	NC_000001.10:g.161183516C>T	(Likely) benign	1 lab	9a947765df
12:4768193 NDUFA9 A>T	12	4768193	4768193	A	T	NDUFA9	c.411-9A>T	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4768193A>T	(Likely) benign	1 lab	9a972e7cd8
20:60909653 LAMA5 G>A	20	60909653	60909653	G	A	LAMA5	c.2507C>T	NM_005560.6	NP_005551.3:p.(Ala836Val)	NC_000020.10:g.60909653G>A	VUS	1 lab	9a97de6122
13:111125467 COL4A2 C>T	13	111125467	111125467	C	T	COL4A2	c.2395C>T	NM_001846.4	NP_001837.2:p.(Pro799Ser)	NC_000013.10:g.111125467C>T	VUS	1 lab	9a991b6183
1:202777232 KDM5B G>T	1	202777232	202777232	G	T	KDM5B	c.202C>A	NM_006618.5	NP_006609.3:p.(Pro68Thr)	NC_000001.10:g.202777232G>T	VUS	1 lab	9a9c1cec48
14:102505475 DYNC1H1 A>G	14	102505475	102505475	A	G	DYNC1H1	c.11344A>G	NM_001376.5	NP_001367.2:p.(Arg3782Gly)	NC_000014.8:g.102505475A>G	VUS	1 lab	9aae42937a
10:112404249 RBM20 C>A	10	112404249	112404249	C	A	RBM20	c.37C>A	NM_001134363.3	NP_001127835.2:p.(Pro13Thr)	NC_000010.10:g.112404249C>A	VUS	1 lab	9ab66062b2
14:99641135 BCL11B C>T	14	99641135	99641135	C	T	BCL11B	c.2038G>A	NM_138576.4	NP_612808.1:p.(Gly680Arg)	NC_000014.8:g.99641135C>T	VUS	1 lab	9abc24b503
5:176562990 NSD1 C>A	5	176562990	176562990	C	A	NSD1	c.886C>A	NM_022455.5	NP_071900.2:p.(Pro296Thr)	NC_000005.9:g.176562990C>A	VUS	1 lab	9ac27cdb9a
X:79971748 BRWD3 C>T	X	79971748	79971748	C	T	BRWD3	c.2233G>A	NM_153252.5	NP_694984.5:p.(Val745Ile)	NC_000023.10:g.79971748C>T	VUS	1 lab	9acabeb51c
5:225518 SDHA T>G	5	225518	225518	T	G	SDHA	c.313-16T>G	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.225518T>G	(Likely) benign	1 lab	9acbb9d175
12:66786109 GRIP1 C>G	12	66786109	66786109	C	G	GRIP1	c.2287G>C	NM_021150.4	NP_066973.2:p.(Asp763His)	NC_000012.11:g.66786109C>G	VUS	1 lab	9acbe2bfcf
18:28666528 DSC2 G>GAAT	18	28666528	28666529	G	GAAT	DSC2	c.942+10_942+11insATT	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28666528_28666529insAAT	(Likely) benign	1 lab	9acd749322
9:131329260 SPTAN1 C>T	9	131329260	131329260	C	T	SPTAN1	c.237+4C>T	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131329260C>T	(Likely) benign	1 lab	9acf2af16d
8:134057346 SLA A>G	8	134057346	134057346	A	G	SLA	c.367T>C	NM_001045556.3	NP_001039021.1:p.(Ser123Pro)	NC_000008.10:g.134057346A>G	VUS	1 lab	9ad170fb05
20:42199704 SGK2 G>GGTGTGTGTGTGTGTGTGT	20	42199704	42199742	G	GGTGTGTGTGTGTGTGTGT	SGK2	c.690+25_690+42dup	NM_016276.4	NP_057360.2:p.?	NC_000020.10:g.42199725_42199742dup	VUS	1 lab	9ad4d9c9b9
16:30999461 HSD3B7 G>A	16	30999461	30999461	G	A	HSD3B7	c.1067G>A	NM_025193.4	NP_079469.2:p.(Arg356His)	NC_000016.9:g.30999461G>A	VUS	1 lab	9add759b10
13:111160502 COL4A2 G>C	13	111160502	111160502	G	C	COL4A2	c.4815G>C	NM_001846.4	NP_001837.2:p.(Gln1605His)	NC_000013.10:g.111160502G>C	VUS	1 lab	9adea624b2
8:103220351 RRM2B A>G	8	103220351	103220351	A	G	RRM2B	c.*10=	NM_015713.5	NP_056528.2:p.?	NC_000008.10:g.103220351A>G	(Likely) benign	1 lab	9adf2e3c92
16:56459028 AMFR C>T	16	56459028	56459028	C	T	AMFR	c.212G>A	NM_001144.6	NP_001135.3:p.(Arg71His)	NC_000016.9:g.56459028C>T	VUS	1 lab	9ae10765ae
9:139405153 NOTCH1 C>T	9	139405153	139405153	C	T	NOTCH1	c.2692G>A	NM_017617.5	NP_060087.3:p.(Gly898Ser)	NC_000009.11:g.139405153C>T	VUS	1 lab	9ae4a14cb5
5:34004707 AMACR C>T	5	34004707	34004707	C	T	AMACR	c.524G>A	NM_014324.6	NP_055139.4:p.(Gly175Asp)	NC_000005.9:g.34004707C>T	(Likely) benign	1 lab	9ae8e78c94
11:108412531 EXPH5 T>C	11	108412531	108412531	T	C	EXPH5	c.128A>G	NM_015065.3	NP_055880.2:p.(Gln43Arg)	NC_000011.9:g.108412531T>C	VUS	1 lab	9aea0cc008
2:238289918 COL6A3 G>C	2	238289918	238289918	G	C	COL6A3	c.1537C>G	NM_004369.4	NP_004360.2:p.(Arg513Gly)	NC_000002.11:g.238289918G>C	VUS	1 lab	9aeeeb4d27
X:68382970 PJA1 TG>T	X	68382970	68382973	TG	T	PJA1	c.111del	NM_145119.4	NP_660095.1:p.(Thr38ArgfsTer52)	NC_000023.10:g.68382973del	VUS	1 lab	9aef8de547
12:1940619 CACNA2D4 G>A	12	1940619	1940619	G	A	CACNA2D4	c.2551+9286C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1940619G>A	(Likely) benign	1 lab	9af1abceda
9:140941398 CACNA1B C>T	9	140941398	140941398	C	T	CACNA1B	c.3456C>T	NM_000718.4	NP_000709.1:p.(Phe1152=)	NC_000009.11:g.140941398C>T	(Likely) benign	1 lab	9af225f454
16:50750584 NOD2 A>G	16	50750584	50750584	A	G	NOD2	c.2546+3A>G	NM_022162.3	NP_071445.1:p.?	NC_000016.9:g.50750584A>G	(Likely) benign	1 lab	9af3e1d84b
12:7046432 ATN1 G>C	12	7046432	7046432	G	C	ATN1	c.2002G>C	NM_001007026.2	NP_001007027.1:p.(Gly668Arg)	NC_000012.11:g.7046432G>C	VUS	1 lab	9afb4365df
16:70305740 AARS1 G>T	16	70305740	70305740	G	T	AARS1	c.615C>A	NM_001605.3	NP_001596.2:p.(Asn205Lys)	NC_000016.9:g.70305740G>T	VUS	1 lab	9b03fc32b8
12:52881632 KRT6A C>T	12	52881632	52881632	C	T	KRT6A	c.1567G>A	NM_005554.4	NP_005545.1:p.(Val523Ile)	NC_000012.11:g.52881632C>T	(Likely) benign	1 lab	9b044a108a
2:48026310 MSH6 CTA>C	2	48026310	48026313	CTA	C	MSH6	c.1190_1191del	NM_000179.3	NP_000170.1:p.(Tyr397CysfsTer3)	NC_000002.11:g.48026312_48026313del	(Likely) pathogenic	1 lab	9b07083dd2
19:45856371 ERCC2 G>T	19	45856371	45856371	G	T	ERCC2	c.1801C>A	NM_000400.4	NP_000391.1:p.(Arg601=)	NC_000019.9:g.45856371G>T	(Likely) benign	1 lab	9b07c60007
X:152801835 ATP2B3 G>A	X	152801835	152801835	G	A	ATP2B3	c.130G>A	NM_001001344.2	NP_001001344.1:p.(Glu44Lys)	NC_000023.10:g.152801835G>A	VUS	1 lab	9b10f318e6
1:196300359 KCNT2 T>C	1	196300359	196300359	T	C	KCNT2	c.2030A>G	NM_198503.5	NP_940905.2:p.(Tyr677Cys)	NC_000001.10:g.196300359T>C	VUS	1 lab	9b16e9d89e
2:230672565 TRIP12 A>T	2	230672565	230672565	A	T	TRIP12	c.2211T>A	NM_004238.3	NP_004229.1:p.(Cys737Ter)	NC_000002.11:g.230672565A>T	(Likely) pathogenic	1 lab	9b19332a63
22:51113133 SHANK3 GT>G	22	51113133	51113134	GT	G	SHANK3	c.288+2del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51113134del	VUS	1 lab	9b26a00021
7:117246713 CFTR T>G	7	117246713	117246713	T	G	CFTR	c.2909-15T>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117246713T>G	(Likely) pathogenic	1 lab	9b2eea2a07
7:82390006 PCLO C>T	7	82390006	82390006	C	T	PCLO	c.15237G>A	NM_033026.6	NP_149015.2:p.(Ser5079=)	NC_000007.13:g.82390006C>T	(Likely) benign	1 lab	9b33c29c7b
3:45837886 SLC6A20 G>C	3	45837886	45837886	G	C	SLC6A20	c.26C>G	NM_020208.4	NP_064593.1:p.(Ala9Gly)	NC_000003.11:g.45837886G>C	(Likely) benign	1 lab	9b3489195a
6:138575088 ARFGEF3 T>C	6	138575088	138575088	T	C	ARFGEF3	c.737T>C	NM_020340.5	NP_065073.3:p.(Met246Thr)	NC_000006.11:g.138575088T>C	VUS	1 lab	9b36cc65f1
2:179431196 TTN C>A	2	179431196	179431196	C	A	TTN	c.79663G>T	NM_001267550.2	NP_001254479.2:p.(Glu26555Ter)	NC_000002.11:g.179431196C>A	(Likely) pathogenic	1 lab	9b3c6eb6ce
6:7246949 RREB1 C>A	6	7246949	7246949	C	A	RREB1	c.4266C>A	NM_001003699.4	NP_001003699.1:p.(Thr1422=)	NC_000006.11:g.7246949C>A	(Likely) benign	1 lab	9b3cc54933
9:139404375 NOTCH1 T>TGATGC	9	139404375	139404380	T	TGATGC	NOTCH1	c.2774_2778dup	NM_017617.5	NP_060087.3:p.(Asn927AlafsTer254)	NC_000009.11:g.139404376_139404380dup	(Likely) pathogenic	1 lab	9b3df7657a
10:104389832 SUFU C>A	10	104389832	104389832	C	A	SUFU	c.1375C>A	NM_016169.4	NP_057253.2:p.(Pro459Thr)	NC_000010.10:g.104389832C>A	VUS	1 lab	9b450cf223
11:66325609 ACTN3 C>T	11	66325609	66325609	C	T	ACTN3	c.1240C>T	NM_001104.4	NP_001095.2:p.(Arg414Trp)	NC_000011.9:g.66325609C>T	VUS	1 lab	9b5621d6f7
12:32895540 DNM1L T>C	12	32895540	32895540	T	C	DNM1L	c.2012T>C	NM_012062.5	NP_036192.2:p.(Met671Thr)	NC_000012.11:g.32895540T>C	VUS	1 lab	9b56f052e5
8:145638740 SLC39A4 C>A	8	145638740	145638740	C	A	SLC39A4	c.1433G>T	NM_017767.3	NP_060237.3:p.(Gly478Val)	NC_000008.10:g.145638740C>A	VUS	1 lab	9b587a0e62
12:13722820 GRIN2B T>G	12	13722820	13722820	T	G	GRIN2B	c.2303A>C	NM_000834.5	NP_000825.2:p.(Lys768Thr)	NC_000012.11:g.13722820T>G	(Likely) pathogenic	1 lab	9b5b0b87ce
20:39709815 TOP1 A>T	20	39709815	39709815	A	T	TOP1	c.442A>T	NM_003286.4	NP_003277.1:p.(Lys148Ter)	NC_000020.10:g.39709815A>T	VUS	1 lab	9b5d6f2cf9
X:153135043 L1CAM A>G	X	153135043	153135043	A	G	L1CAM	c.1199T>C	NM_000425.5	NP_000416.1:p.(Met400Thr)	NC_000023.10:g.153135043A>G	VUS	1 lab	9b67b7ad36
2:29450501 ALK A>G	2	29450501	29450501	A	G	ALK	c.2853T>C	NM_004304.5	NP_004295.2:p.(Asp951=)	NC_000002.11:g.29450501A>G	(Likely) benign	1 lab	9b6cfd62df
9:2086826 SMARCA2 T>C	9	2086826	2086826	T	C	SMARCA2	c.2527-3T>C	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2086826T>C	(Likely) benign	1 lab	9b6eec8549
19:55539061 GP6 A>G	19	55539061	55539061	A	G	GP6	c.495T>C	NM_001083899.2	NP_001077368.2:p.(Phe165=)	NC_000019.9:g.55539061A>G	(Likely) benign	1 lab	9b6ff71a3b
2:100218001 AFF3 TGCTGCTGCC>T	2	100218001	100218018	TGCTGCTGCC	T	AFF3	c.1258_1266del	NM_002285.3	NP_002276.2:p.(Gly420_Ser422del)	NC_000002.11:g.100218010_100218018del	VUS	1 lab	9b70918afb
2:44222915 LRPPRC G>C	2	44222915	44222915	G	C	LRPPRC	c.149+23C>G	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44222915G>C	(Likely) benign	1 lab	9b72b2f9ed
10:105830225 COL17A1 C>G	10	105830225	105830225	C	G	COL17A1	c.566G>C	NM_000494.4	NP_000485.3:p.(Gly189Ala)	NC_000010.10:g.105830225C>G	(Likely) benign	1 lab	9b7694e996
X:41012274 USP9X GTTAC>G	X	41012274	41012280	GTTAC	G	USP9X	c.1840_1843del	NM_001039590.3	NP_001034679.2:p.(Thr614TrpfsTer2)	NC_000023.10:g.41012277_41012280del	(Likely) pathogenic	1 lab	9b7a1e7783
9:138651655 KCNT1 C>T	9	138651655	138651655	C	T	KCNT1	c.985C>T	NM_020822.3	NP_065873.2:p.(Leu329=)	NC_000009.11:g.138651655C>T	(Likely) benign	1 lab	9b7d5241f3
19:5131369 KDM4B C>T	19	5131369	5131369	C	T	KDM4B	c.1598C>T	NM_015015.3	NP_055830.1:p.(Pro533Leu)	NC_000019.9:g.5131369C>T	(Likely) benign	1 lab	9b80613e8b
4:170601338 CLCN3 GAC>G	4	170601338	170601341	GAC	G	CLCN3	c.300_301del	NM_173872.4	NP_776297.2:p.(Asp100GlufsTer5)	NC_000004.11:g.170601340_170601341del	VUS	1 lab	9b86a19a28
18:19321742 MIB1 C>A	18	19321742	19321742	C	A	MIB1	c.198C>A	NM_020774.4	NP_065825.1:p.(Tyr66Ter)	NC_000018.9:g.19321742C>A	(Likely) pathogenic	1 lab	9b92bd2865
9:140646804 EHMT1 G>T	9	140646804	140646804	G	T	EHMT1	c.1192G>T	NM_024757.5	NP_079033.4:p.(Glu398Ter)	NC_000009.11:g.140646804G>T	(Likely) pathogenic	1 lab	9b93fe7f20
X:129283465 AIFM1 G>T	X	129283465	129283465	G	T	AIFM1	c.328C>A	NM_004208.4	NP_004199.1:p.(Gln110Lys)	NC_000023.10:g.129283465G>T	VUS	1 lab	9b9455381b
3:47888493 DHX30 T>G	3	47888493	47888493	T	G	DHX30	c.1929+2T>G	NM_138615.3	NP_619520.1:p.?	NC_000003.11:g.47888493T>G	VUS	1 lab	9b949b01c5
5:55243420 IL6ST TAAAAAAA>T	5	55243420	55243445	TAAAAAAA	T	IL6ST	c.1841-10_1841-4del	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243439_55243445del	(Likely) benign	1 lab	9b94b17898
2:113405303 SLC20A1 C>T	2	113405303	113405303	C	T	SLC20A1	c.549C>T	NM_005415.5	NP_005406.3:p.(Phe183=)	NC_000002.11:g.113405303C>T	(Likely) benign	1 lab	9b9e11c704
17:63533068 AXIN2 G>A	17	63533068	63533068	G	A	AXIN2	c.1826C>T	NM_004655.4	NP_004646.3:p.(Pro609Leu)	NC_000017.10:g.63533068G>A	(Likely) benign	1 lab	9ba593e087
6:31916721 CFB T>C	6	31916721	31916721	T	C	CFB	c.1151T>C	NM_001710.6	NP_001701.2:p.(Ile384Thr)	NC_000006.11:g.31916721T>C	VUS	1 lab	9bab5c744d
X:70598283 TAF1 A>T	X	70598283	70598283	A	T	TAF1	c.1132A>T	NM_004606.5	NP_004597.3:p.(Ile378Leu)	NC_000023.10:g.70598283A>T	(Likely) benign	1 lab	9bab6379bc
5:1294927 TERT A>C	5	1294927	1294927	A	C	TERT	c.178T>G	NM_198253.3	NP_937983.2:p.(Trp60Gly)	NC_000005.9:g.1294927A>C	VUS	1 lab	9bb59e3bde
10:99510068 ZFYVE27 G>T	10	99510068	99510068	G	T	ZFYVE27	c.665-20G>T	NM_144588.7	NP_653189.3:p.?	NC_000010.10:g.99510068G>T	(Likely) benign	1 lab	9bb5dd6429
2:55920795 PNPT1 T>G	2	55920795	55920795	T	G	PNPT1	c.161+3A>C	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55920795T>G	VUS	1 lab	9bcd9302ea
2:58388696 FANCL A>G	2	58388696	58388696	A	G	FANCL	c.996T>C	NM_001114636.1	NP_001108108.1:p.(Ser332=)	NC_000002.11:g.58388696A>G	(Likely) benign	1 lab	9bd1113d70
12:49445324 KMT2D CGAGTCCTCCGGTGGTGGGGAAGCAGGT>C	12	49445324	49445359	CGAGTCCTCCGGTGGTGGGGAAGCAGGT	C	KMT2D	c.2115_2141del	NM_003482.4	NP_003473.3:p.(Pro706_Ser714del)	NC_000012.11:g.49445333_49445359del	VUS	1 lab	9bd352b9a9
2:179519477 TTN G>A	2	179519477	179519477	G	A	TTN	c.38201C>T	NM_001267550.2	NP_001254479.2:p.(Pro12734Leu)	NC_000002.11:g.179519477G>A	VUS	1 lab	9bd551c569
15:94884080 MCTP2 G>A	15	94884080	94884080	G	A	MCTP2	c.896G>A	NM_018349.4	NP_060819.3:p.(Ser299Asn)	NC_000015.9:g.94884080G>A	VUS	1 lab	9bd6397a44
2:219301267 VIL1 G>A	2	219301267	219301267	G	A	VIL1	c.1889G>A	NM_007127.3	NP_009058.2:p.(Arg630His)	NC_000002.11:g.219301267G>A	VUS	1 lab	9bd769ced5
2:179539021 TTN A>G	2	179539021	179539021	A	G	TTN	c.34708+20T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179539021A>G	(Likely) benign	1 lab	9bda1d1c98
3:9475551 SETD5 C>G	3	9475551	9475551	C	G	SETD5	c.94C>G	NM_001080517.3	NP_001073986.1:p.(Pro32Ala)	NC_000003.11:g.9475551C>G	VUS	1 lab	9bdc5121c0
13:49039339 RB1 A>G	13	49039339	49039339	A	G	RB1	c.2326-2A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039339A>G	(Likely) pathogenic	1 lab	9be3877b1e
22:21350343 LZTR1 G>A	22	21350343	21350343	G	A	LZTR1	c.2161G>A	NM_006767.4	NP_006758.2:p.(Glu721Lys)	NC_000022.10:g.21350343G>A	VUS	1 lab	9be7d0b01d
18:49867224 DCC T>C	18	49867224	49867224	T	C	DCC	c.67T>C	NM_005215.4	NP_005206.2:p.(Phe23Leu)	NC_000018.9:g.49867224T>C	(Likely) benign	1 lab	9bfce3ea6c
17:71201675 COG1 T>C	17	71201675	71201675	T	C	COG1	c.2383-17T>C	NM_018714.3	NP_061184.1:p.?	NC_000017.10:g.71201675T>C	(Likely) benign	1 lab	9c007cd340
11:95826417 MAML2 T>C	11	95826417	95826417	T	C	MAML2	c.778A>G	NM_032427.4	NP_115803.1:p.(Met260Val)	NC_000011.9:g.95826417T>C	(Likely) benign	1 lab	9c0258709f
16:89349587 ANKRD11 A>G	16	89349587	89349587	A	G	ANKRD11	c.3363T>C	NM_001256182.2	NP_001243111.1:p.(Asp1121=)	NC_000016.9:g.89349587A>G	(Likely) benign	1 lab	9c0357a2e7
18:47432792 MYO5B C>T	18	47432792	47432792	C	T	MYO5B	c.2411G>A	NM_001080467.3	NP_001073936.1:p.(Arg804His)	NC_000018.9:g.47432792C>T	VUS	1 lab	9c036a53b0
6:138619860 ARFGEF3 C>T	6	138619860	138619860	C	T	ARFGEF3	c.3766C>T	NM_020340.5	NP_065073.3:p.(Leu1256Phe)	NC_000006.11:g.138619860C>T	VUS	1 lab	9c0569a401
2:179438263 TTN G>A	2	179438263	179438263	G	A	TTN	c.72596C>T	NM_001267550.2	NP_001254479.2:p.(Ala24199Val)	NC_000002.11:g.179438263G>A	VUS	1 lab	9c0adb4546
19:39057615 RYR1 C>T	19	39057615	39057615	C	T	RYR1	c.13502C>T	NM_000540.3	NP_000531.2:p.(Pro4501Leu)	NC_000019.9:g.39057615C>T	(Likely) benign	1 lab	9c112be0a4
10:112572050 RBM20 G>A	10	112572050	112572050	G	A	RBM20	c.1895G>A	NM_001134363.3	NP_001127835.2:p.(Arg632Lys)	NC_000010.10:g.112572050G>A	VUS	1 lab	9c11c5af82
16:23535680 EARS2 A>C	16	23535680	23535680	A	C	EARS2	n.1591T>G	NR_003501.2		NC_000016.9:g.23535680A>C	(Likely) benign	1 lab	9c11edacc6
20:62038689 KCNQ2 T>G	20	62038689	62038689	T	G	KCNQ2	c.1927A>C	NM_172107.4	NP_742105.1:p.(Ile643Leu)	NC_000020.10:g.62038689T>G	VUS	1 lab	9c13d5fb90
1:1873592 CFAP74 C>T	1	1873592	1873592	C	T	CFAP74	c.2490G>A	NM_001304360.2	NP_001291289.1:p.(Ser830=)	NC_000001.10:g.1873592C>T	(Likely) benign	1 lab	9c16c3d884
14:64537491 SYNE2 C>T	14	64537491	64537491	C	T	SYNE2	c.10560C>T	NM_182914.3	NP_878918.2:p.(Asn3520=)	NC_000014.8:g.64537491C>T	(Likely) benign	1 lab	9c24cb93c6
19:48918116 GRIN2D C>T	19	48918116	48918116	C	T	GRIN2D	c.1413-5C>T	NM_000836.4	NP_000827.2:p.?	NC_000019.9:g.48918116C>T	(Likely) benign	1 lab	9c282f59fd
2:179585285 TTN C>T	2	179585285	179585285	C	T	TTN	c.22253G>A	NM_001256850.1	NP_001243779.1:p.(Trp7418Ter)	NC_000002.11:g.179585285C>T	VUS	1 lab	9c2e0aa13a
19:3977288 EEF2 C>A	19	3977288	3977288	C	A	EEF2	c.2308G>T	NM_001961.4	NP_001952.1:p.(Val770Leu)	NC_000019.9:g.3977288C>A	VUS	1 lab	9c2fd739b6
10:115412686 NRAP G>A	10	115412686	115412686	G	A	NRAP	c.570+8C>T	NM_001261463.2	NP_001248392.1:p.?	NC_000010.10:g.115412686G>A	(Likely) benign	1 lab	9c3125bc8c
6:31928799 SKIC2 T>C	6	31928799	31928799	T	C	SKIC2	c.545-19T>C	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31928799T>C	(Likely) benign	1 lab	9c38ef8955
20:472995 CSNK2A1 T>A	20	472995	472995	T	A	CSNK2A1	c.524A>T	NM_001362770.2	NP_001349699.1:p.(Asp175Val)	NC_000020.10:g.472995T>A	(Likely) pathogenic	1 lab	9c429f5dbf
1:7798492 CAMTA1 C>A	1	7798492	7798492	C	A	CAMTA1	c.4132C>A	NM_015215.4	NP_056030.1:p.(Arg1378Ser)	NC_000001.10:g.7798492C>A	(Likely) benign	1 lab	9c4433bbdc
12:56494998 ERBB3 A>T	12	56494998	56494998	A	T	ERBB3	c.3355A>T	NM_001982.4	NP_001973.2:p.(Ser1119Cys)	NC_000012.11:g.56494998A>T	(Likely) benign	1 lab	9c4508855b
10:64967558 JMJD1C C>T	10	64967558	64967558	C	T	JMJD1C	c.3871G>A	NM_032776.3	NP_116165.1:p.(Val1291Met)	NC_000010.10:g.64967558C>T	VUS	1 lab	9c46c97b21
X:53596732 HUWE1 G>A	X	53596732	53596732	G	A	HUWE1	c.6368C>T	NM_031407.7	NP_113584.3:p.(Ala2123Val)	NC_000023.10:g.53596732G>A	VUS	1 lab	9c473435f1
3:178947901 PIK3CA G>A	3	178947901	178947901	G	A	PIK3CA	c.2776G>A	NM_006218.4	NP_006209.2:p.(Asp926Asn)	NC_000003.11:g.178947901G>A	(Likely) benign	1 lab	9c4b704e27
8:94777642 TMEM67 G>C	8	94777642	94777642	G	C	TMEM67	c.515G>C	NM_153704.6	NP_714915.3:p.(Arg172Pro)	NC_000008.10:g.94777642G>C	VUS	1 lab	9c577a93ee
8:96044247 NDUFAF6 A>G	8	96044247	96044247	A	G	NDUFAF6	c.222A>G	NM_152416.4	NP_689629.2:p.(Leu74=)	NC_000008.10:g.96044247A>G	(Likely) benign	1 lab	9c5af4e743
13:111082300 COL4A2 T>A	13	111082300	111082300	T	A	COL4A2	c.546T>A	NM_001846.4	NP_001837.2:p.(Tyr182Ter)	NC_000013.10:g.111082300T>A	VUS	1 lab	9c5e1400c7
1:209969822 IRF6 G>A	1	209969822	209969822	G	A	IRF6	c.250C>T	NM_006147.4	NP_006138.1:p.(Arg84Cys)	NC_000001.10:g.209969822G>A	(Likely) pathogenic	1 lab	9c611a9833
2:179597321 TTN C>T	2	179597321	179597321	C	T	TTN	c.16467G>A	NM_001267550.2	NP_001254479.2:p.(Glu5489=)	NC_000002.11:g.179597321C>T	(Likely) benign	1 lab	9c61380da1
5:147473971 SPINK5 C>T	5	147473971	147473971	C	T	SPINK5	c.721C>T	NM_001127698.2	NP_001121170.1:p.(Arg241Trp)	NC_000005.9:g.147473971C>T	VUS	1 lab	9c63cca2d1
1:155340778 ASH1L G>GA	1	155340778	155340786	G	GA	ASH1L	c.6333-5dup	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155340786dup	(Likely) benign	1 lab	9c723594fb
9:710949 KANK1 GA>G	9	710949	710951	GA	G	KANK1	c.185del	NM_001256877.3	NP_001243806.1:p.(Asn62ThrfsTer47)	NC_000009.11:g.710951del	VUS	1 lab	9c73a9d79d
2:179427193 TTN C>G	2	179427193	179427193	C	G	TTN	c.83666G>C	NM_001267550.2	NP_001254479.2:p.(Ser27889Thr)	NC_000002.11:g.179427193C>G	VUS	1 lab	9c7496263c
17:32612894 CCL11 G>A	17	32612894	32612894	G	A	CCL11	c.67G>A	NM_002986.3	NP_002977.1:p.(Ala23Thr)	NC_000017.10:g.32612894G>A	(Likely) benign	1 lab	9c74a5dd7e
16:2166837 PKD1 C>T	16	2166837	2166837	C	T	PKD1	c.1603G>A	NM_001009944.3	NP_001009944.3:p.(Gly535Arg)	NC_000016.9:g.2166837C>T	VUS	1 lab	9c76d91bd4
12:46211600 ARID2 A>G	12	46211600	46211600	A	G	ARID2	c.566A>G	NM_152641.4	NP_689854.2:p.(His189Arg)	NC_000012.11:g.46211600A>G	VUS	1 lab	9c7a0e127a
10:73556881 CDH23 C>T	10	73556881	73556881	C	T	CDH23	c.6733C>T	NM_022124.6	NP_071407.4:p.(Pro2245Ser)	NC_000010.10:g.73556881C>T	VUS	1 lab	9c7b7245a9
X:53592049 HUWE1 T>C	X	53592049	53592049	T	C	HUWE1	c.6859A>G	NM_031407.7	NP_113584.3:p.(Ser2287Gly)	NC_000023.10:g.53592049T>C	VUS	1 lab	9c825232ef
10:68040262 CTNNA3 A>G	10	68040262	68040262	A	G	CTNNA3	c.1850T>C	NM_013266.4	NP_037398.2:p.(Ile617Thr)	NC_000010.10:g.68040262A>G	(Likely) benign	1 lab	9c8560896b
19:16606592 CALR3 T>C	19	16606592	16606592	T	C	CALR3	c.163A>G	NM_145046.5	NP_659483.2:p.(Lys55Glu)	NC_000019.9:g.16606592T>C	(Likely) benign	1 lab	9c87470098
7:91727019 AKAP9 C>T	7	91727019	91727019	C	T	AKAP9	c.10518C>T	NM_005751.5	NP_005742.4:p.(Thr3506=)	NC_000007.13:g.91727019C>T	(Likely) benign	1 lab	9c8ee6c354
12:88534776 CEP290 TCTTG>T	12	88534776	88534783	TCTTG	T	CEP290	c.133_136del	NM_025114.4	NP_079390.3:p.(Gln45LysfsTer3)	NC_000012.11:g.88534780_88534783del	(Likely) pathogenic	1 lab	9c8ee8f41c
5:176637382 NSD1 G>A	5	176637382	176637382	G	A	NSD1	c.1982G>A	NM_022455.5	NP_071900.2:p.(Ser661Asn)	NC_000005.9:g.176637382G>A	VUS	1 lab	9c8fc42082
19:47502633 ARHGAP35 A>C	19	47502633	47502633	A	C	ARHGAP35	c.4109A>C	NM_004491.5	NP_004482.4:p.(Glu1370Ala)	NC_000019.9:g.47502633A>C	VUS	1 lab	9c900a100d
1:74701182 TNNI3K A>G	1	74701182	74701182	A	G	TNNI3K	c.40+7A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74701182A>G	(Likely) benign	1 lab	9c97e2a214
16:335418 PDIA2 C>T	16	335418	335418	C	T	PDIA2	c.902C>T	NM_006849.4	NP_006840.2:p.(Ala301Val)	NC_000016.9:g.335418C>T	VUS	1 lab	9ca5e05a6f
1:11182056 MTOR C>T	1	11182056	11182056	C	T	MTOR	c.6790G>A	NM_004958.4	NP_004949.1:p.(Glu2264Lys)	NC_000001.10:g.11182056C>T	VUS	1 lab	9cab6cc91b
3:8784190 CAV3 G>A	3	8784190	8784190	G	A	CAV3	c.115-3022G>A	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8784190G>A	(Likely) benign	1 lab	9cac2c8931
2:85777747 GGCX C>T	2	85777747	85777747	C	T	GGCX	c.2015G>A	NM_000821.7	NP_000812.2:p.(Arg672Gln)	NC_000002.11:g.85777747C>T	VUS	1 lab	9cb1239b56
20:2840930 VPS16 G>A	20	2840930	2840930	G	A	VPS16	c.286G>A	NM_022575.4	NP_072097.2:p.(Glu96Lys)	NC_000020.10:g.2840930G>A	(Likely) benign	1 lab	9cb50de0eb
9:133370308 ASS1 A>G	9	133370308	133370308	A	G	ASS1	c.1025A>G	NM_000050.4	NP_000041.2:p.(Gln342Arg)	NC_000009.11:g.133370308A>G	(Likely) pathogenic	1 lab	9cb6fa0de0
2:241685453 KIF1A C>T	2	241685453	241685453	C	T	KIF1A	c.2899+3G>A	NM_004321.8	NP_004312.2:p.?	NC_000002.11:g.241685453C>T	(Likely) benign	1 lab	9cb7b0227b
19:14038731 CC2D1A G>T	19	14038731	14038731	G	T	CC2D1A	c.2342G>T	NM_017721.5	NP_060191.3:p.(Gly781Val)	NC_000019.9:g.14038731G>T	(Likely) benign	1 lab	9cb905c1fe
15:101084599 CERS3 CCGCGGGGACACGGGCCCTCTCTCGGCCTTGACCTG>C	15	101084599	101084641	CCGCGGGGACACGGGCCCTCTCTCGGCCTTGACCTG	C	CERS3	c.-355+222_-355+256del	NM_178842.5	NP_849164.2:p.?	NC_000015.9:g.101084607_101084641del	(Likely) benign	1 lab	9cbc43748e
1:10555356 PEX14 A>T	1	10555356	10555356	A	T	PEX14	c.62A>T	NM_004565.3	NP_004556.1:p.(Asn21Ile)	NC_000001.10:g.10555356A>T	VUS	1 lab	9cc00a152c
1:1274019 DVL1 G>A	1	1274019	1274019	G	A	DVL1	c.1147C>T	NM_004421.3	NP_004412.2:p.(Pro383Ser)	NC_000001.10:g.1274019G>A	(Likely) benign	1 lab	9cc1a05c7a
6:146720363 GRM1 C>G	6	146720363	146720363	C	G	GRM1	c.2188C>G	NM_001278064.2	NP_001264993.1:p.(Pro730Ala)	NC_000006.11:g.146720363C>G	VUS	1 lab	9cc46afcf9
3:37067120 MLH1 T>TTTTTA	3	37067120	37067121	T	TTTTTA	MLH1	c.1039-8_1039-7insTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTA	(Likely) benign	1 lab	bc23bd8adb
16:11118731 CLEC16A A>G	16	11118731	11118731	A	G	CLEC16A	c.1490A>G	NM_015226.3	NP_056041.1:p.(His497Arg)	NC_000016.9:g.11118731A>G	VUS	1 lab	9cc54c861e
6:6318920 F13A1 A>AT	6	6318920	6318921	A	AT	F13A1	c.-18-6_-18-5insA	NM_000129.4	NP_000120.2:p.?	NC_000006.11:g.6318920_6318921insT	(Likely) benign	1 lab	9cc7370f14
6:29625001 MOG A>G	6	29625001	29625001	A	G	MOG	c.15A>G	NM_206809.4	NP_996532.2:p.(Ser5=)	NC_000006.11:g.29625001A>G	(Likely) benign	1 lab	9cc8f456b4
4:153247187 FBXW7 C>T	4	153247187	153247187	C	T	FBXW7	c.1615G>A	NM_033632.3	NP_361014.1:p.(Gly539Arg)	NC_000004.11:g.153247187C>T	VUS	1 lab	9cca738017
11:2189904 TH G>A	11	2189904	2189904	G	A	TH	c.406-9C>T	NM_199292.3	NP_954986.2:p.?	NC_000011.9:g.2189904G>A	(Likely) benign	1 lab	9ccc7f1dc0
9:131367749 SPTAN1 G>A	9	131367749	131367749	G	A	SPTAN1	c.4039G>A	NM_001130438.3	NP_001123910.1:p.(Asp1347Asn)	NC_000009.11:g.131367749G>A	VUS	1 lab	9ccd6ea831
X:70627924 TAF1 G>A	X	70627924	70627924	G	A	TAF1	c.4307G>A	NM_004606.5	NP_004597.3:p.(Arg1436His)	NC_000023.10:g.70627924G>A	VUS	1 lab	9ccf5ccfd8
9:94488843 ROR2 G>A	9	94488843	94488843	G	A	ROR2	c.1366C>T	NM_004560.4	NP_004551.2:p.(Leu456Phe)	NC_000009.11:g.94488843G>A	VUS	1 lab	9cdb5ef358
X:100652969 GLA C>T	X	100652969	100652969	C	T	GLA	c.1118G>A	NM_000169.3	NP_000160.1:p.(Gly373Asp)	NC_000023.10:g.100652969C>T	(Likely) pathogenic	1 lab	9cdcb3f2c2
10:54074798 DKK1 G>T	10	54074798	54074798	G	T	DKK1	c.359G>T	NM_012242.4	NP_036374.1:p.(Arg120Leu)	NC_000010.10:g.54074798G>T	VUS	1 lab	9cdff9c2eb
10:28884845 WAC C>G	10	28884845	28884845	C	G	WAC	c.794C>G	NM_016628.5	NP_057712.2:p.(Ser265Cys)	NC_000010.10:g.28884845C>G	VUS	1 lab	9cece90228
12:13828659 GRIN2B T>C	12	13828659	13828659	T	C	GRIN2B	c.1125+20A>G	NM_000834.5	NP_000825.2:p.?	NC_000012.11:g.13828659T>C	(Likely) benign	1 lab	9ceda598b4
17:8725232 PIK3R6 G>C	17	8725232	8725232	G	C	PIK3R6	c.1402C>G	NM_001290211.1	NP_001277140.1:p.(Arg468Gly)	NC_000017.10:g.8725232G>C	VUS	1 lab	9cf1e34008
14:24729847 TGM1 C>T	14	24729847	24729847	C	T	TGM1	c.566G>A	NM_000359.3	NP_000350.1:p.(Gly189Asp)	NC_000014.8:g.24729847C>T	VUS	1 lab	9cf909f234
22:24734384 SPECC1L G>A	22	24734384	24734384	G	A	SPECC1L	c.2591G>A	NM_015330.6	NP_056145.5:p.(Arg864Gln)	NC_000022.10:g.24734384G>A	VUS	1 lab	9cfacc3a78
12:52913630 KRT5 T>G	12	52913630	52913630	T	G	KRT5	c.451A>C	NM_000424.4	NP_000415.2:p.(Thr151Pro)	NC_000012.11:g.52913630T>G	(Likely) pathogenic	1 lab	9cfe564a61
8:77895682 PEX2 C>T	8	77895682	77895682	C	T	PEX2	c.733G>A	NM_000318.3	NP_000309.2:p.(Ala245Thr)	NC_000008.10:g.77895682C>T	(Likely) benign	1 lab	9d05196920
2:179482954 TTN A>G	2	179482954	179482954	A	G	TTN	c.47231T>C	NM_001267550.2	NP_001254479.2:p.(Val15744Ala)	NC_000002.11:g.179482954A>G	VUS	1 lab	9d055ecd41
21:34925409 SON T>C	21	34925409	34925409	T	C	SON	c.3872T>C	NM_032195.3	NP_115571.3:p.(Met1291Thr)	NC_000021.8:g.34925409T>C	VUS	1 lab	9d0571f13b
21:45707419 AIRE GC>G	21	45707419	45707425	GC	G	AIRE	c.489del	NM_000383.4	NP_000374.1:p.(Lys164ArgfsTer214)	NC_000021.8:g.45707425del	(Likely) pathogenic	1 lab	9d08b94d76
14:105858972 PACS2 G>A	14	105858972	105858972	G	A	PACS2	c.2272G>A	NM_001100913.3	NP_001094383.2:p.(Glu758Lys)	NC_000014.8:g.105858972G>A	VUS	1 lab	9d08ceb0c9
7:6027210 PMS2 TG>T	7	6027210	6027213	TG	T	PMS2	c.1185del	NM_000535.7	NP_000526.2:p.(Met396TrpfsTer2)	NC_000007.13:g.6027213del	(Likely) pathogenic	1 lab	9d08eb3080
16:89845194 FANCA A>G	16	89845194	89845194	A	G	FANCA	c.1826+15T>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89845194A>G	(Likely) benign	1 lab	9d0a94d80b
9:32989889 APTX T>C	9	32989889	32989889	T	C	APTX	c.1A>G	NM_001195249.2	NP_001182178.1:p.(Met1?)	NC_000009.11:g.32989889T>C	VUS	1 lab	9d0aebe699
17:29632086 NF1 G>A	17	29632086	29632086	G	A	NF1	c.4773-20752G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29632086G>A	(Likely) benign	1 lab	9d0d8e7d17
17:40630534 ATP6V0A1 T>C	17	40630534	40630534	T	C	ATP6V0A1	c.581T>C	NM_001130020.3	NP_001123492.1:p.(Leu194Pro)	NC_000017.10:g.40630534T>C	VUS	1 lab	9d166c4cf8
2:179448583 TTN G>A	2	179448583	179448583	G	A	TTN	c.65326C>T	NM_001267550.2	NP_001254479.2:p.(Leu21776=)	NC_000002.11:g.179448583G>A	(Likely) benign	1 lab	9d172fa49f
3:47882577 DHX30 G>A	3	47882577	47882577	G	A	DHX30	c.577G>A	NM_138615.3	NP_619520.1:p.(Glu193Lys)	NC_000003.11:g.47882577G>A	VUS	1 lab	9d1c28f186
18:34205508 FHOD3 C>G	18	34205508	34205508	C	G	FHOD3	c.992C>G	NM_025135.5	NP_079411.2:p.(Thr331Arg)	NC_000018.9:g.34205508C>G	VUS	1 lab	9d2329780a
2:241696890 KIF1A C>T	2	241696890	241696890	C	T	KIF1A	c.2555+887G>A	NM_004321.8	NP_004312.2:p.?	NC_000002.11:g.241696890C>T	VUS	1 lab	9d25721df5
2:152490209 NEB C>T	2	152490209	152490209	C	T	NEB	c.9373G>A	NM_001271208.2	NP_001258137.2:p.(Asp3125Asn)	NC_000002.11:g.152490209C>T	VUS	1 lab	9d2836cf8c
16:54967096 IRX5 C>A	16	54967096	54967096	C	A	IRX5	c.763C>A	NM_005853.6	NP_005844.4:p.(Pro255Thr)	NC_000016.9:g.54967096C>A	(Likely) benign	1 lab	9d295b90e2
21:34621011 IFNAR2 C>T	21	34621011	34621011	C	T	IFNAR2	c.395-3C>T	NM_001289125.3	NP_001276054.1:p.?	NC_000021.8:g.34621011C>T	(Likely) benign	1 lab	9d328faaef
16:2546207 TBC1D24 C>T	16	2546207	2546207	C	T	TBC1D24	c.58C>T	NM_001199107.2	NP_001186036.1:p.(Gln20Ter)	NC_000016.9:g.2546207C>T	(Likely) pathogenic	1 lab	9d372aded3
14:67799576 PALS1 T>G	14	67799576	67799576	T	G	PALS1	c.1931T>G	NM_022474.4	NP_071919.2:p.(Val644Gly)	NC_000014.8:g.67799576T>G	VUS	1 lab	9d37c9796d
2:60688502 BCL11A G>A	2	60688502	60688502	G	A	BCL11A	c.1545C>T	NM_022893.4	NP_075044.2:p.(Phe515=)	NC_000002.11:g.60688502G>A	(Likely) benign	1 lab	9d3c5ec3e7
2:189868865 COL3A1 C>A	2	189868865	189868865	C	A	COL3A1	c.2819C>A	NM_000090.4	NP_000081.2:p.(Pro940Gln)	NC_000002.11:g.189868865C>A	VUS	1 lab	9d40b672fd
22:38528999 PLA2G6 G>A	22	38528999	38528999	G	A	PLA2G6	c.382C>T	NM_001349867.2	NP_001336796.1:p.(Arg128Trp)	NC_000022.10:g.38528999G>A	VUS	1 lab	9d44babd06
11:46890165 LRP4 C>T	11	46890165	46890165	C	T	LRP4	c.4937G>A	NM_002334.4	NP_002325.2:p.(Arg1646Gln)	NC_000011.9:g.46890165C>T	(Likely) benign	1 lab	9d45bf4730
X:23411935 PTCHD1 A>G	X	23411935	23411935	A	G	PTCHD1	c.2300A>G	NM_173495.3	NP_775766.2:p.(Asn767Ser)	NC_000023.10:g.23411935A>G	VUS	1 lab	9d47daf341
13:52524494 ATP7B A>C	13	52524494	52524494	A	C	ATP7B	c.2489T>G	NM_000053.4	NP_000044.2:p.(Ile830Ser)	NC_000013.10:g.52524494A>C	VUS	1 lab	9d49046435
13:35770406 NBEA C>G	13	35770406	35770406	C	G	NBEA	c.5333C>G	NM_015678.5	NP_056493.3:p.(Ala1778Gly)	NC_000013.10:g.35770406C>G	(Likely) benign	1 lab	9d4b3a12ee
16:1269145 CACNA1H TG>T	16	1269145	1269147	TG	T	CACNA1H	c.6048+17del	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1269147del	(Likely) benign	1 lab	9d4f3da109
12:52865255 KRT6C C>G	12	52865255	52865255	C	G	KRT6C	c.862G>C	NM_173086.5	NP_775109.2:p.(Ala288Pro)	NC_000012.11:g.52865255C>G	VUS	1 lab	9d51af0e2f
11:17409282 KCNJ11 A>AG	11	17409282	17409283	A	AG	KCNJ11	c.356dup	NM_000525.4	NP_000516.3:p.(Ala120CysfsTer7)	NC_000011.9:g.17409283dup	(Likely) pathogenic	1 lab	9d5482b93c
3:14180802 TMEM43 G>T	3	14180802	14180802	G	T	TMEM43	c.1000+5G>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14180802G>T	VUS	1 lab	9d56d7acbe
2:44116928 LRPPRC C>T	2	44116928	44116928	C	T	LRPPRC	c.4073G>A	NM_133259.4	NP_573566.2:p.(Arg1358His)	NC_000002.11:g.44116928C>T	VUS	1 lab	9d59a6ff4a
5:176939395 DDX41 C>T	5	176939395	176939395	C	T	DDX41	c.1550-1G>A	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176939395C>T	(Likely) pathogenic	1 lab	9d5bb1d8ea
5:150946199 FAT2 A>G	5	150946199	150946199	A	G	FAT2	c.2294T>C	NM_001447.3	NP_001438.1:p.(Ile765Thr)	NC_000005.9:g.150946199A>G	VUS	1 lab	9d62b6565d
1:183201970 LAMC2 G>C	1	183201970	183201970	G	C	LAMC2	c.2198G>C	NM_005562.3	NP_005553.2:p.(Ser733Thr)	NC_000001.10:g.183201970G>C	(Likely) benign	1 lab	9d64b1b42e
1:164776848 PBX1 C>T	1	164776848	164776848	C	T	PBX1	c.771C>T	NM_002585.4	NP_002576.1:p.(Ser257=)	NC_000001.10:g.164776848C>T	(Likely) benign	1 lab	9d660320cf
20:62044881 KCNQ2 T>C	20	62044881	62044881	T	C	KCNQ2	c.1685A>G	NM_172107.4	NP_742105.1:p.(Tyr562Cys)	NC_000020.10:g.62044881T>C	(Likely) pathogenic	1 lab	9d6f8d2a00
2:109526969 EDAR G>A	2	109526969	109526969	G	A	EDAR	c.750C>T	NM_022336.4	NP_071731.1:p.(Ser250=)	NC_000002.11:g.109526969G>A	(Likely) benign	1 lab	9d73b4585c
2:9667942 ADAM17 C>A	2	9667942	9667942	C	A	ADAM17	c.592G>T	NM_003183.6	NP_003174.3:p.(Gly198Trp)	NC_000002.11:g.9667942C>A	VUS	1 lab	9d73c91144
3:58519731 ACOX2 CTCTG>C	3	58519731	58519740	CTCTG	C	ACOX2	c.461_464del	NM_003500.4	NP_003491.1:p.(Thr154SerfsTer25)	NC_000003.11:g.58519737_58519740del	(Likely) pathogenic	1 lab	9d7659792f
16:85682279 GSE1 C>T	16	85682279	85682279	C	T	GSE1	c.348C>T	NM_014615.5	NP_055430.1:p.(Ser116=)	NC_000016.9:g.85682279C>T	(Likely) benign	1 lab	9d788d08b3
19:13356070 CACNA1A G>A	19	13356070	13356070	G	A	CACNA1A	c.4876C>T	NM_001127222.2	NP_001120694.1:p.(Arg1626Cys)	NC_000019.9:g.13356070G>A	(Likely) benign	1 lab	9d7937c0e5
1:78399009 NEXN C>T	1	78399009	78399009	C	T	NEXN	c.1096C>T	NM_144573.4	NP_653174.3:p.(Gln366Ter)	NC_000001.10:g.78399009C>T	VUS	1 lab	9d7f02a24b
20:31685439 BPIFB4 C>T	20	31685439	31685439	C	T	BPIFB4	c.1415C>T	NM_182519.3	NP_872325.2:p.(Pro472Leu)	NC_000020.10:g.31685439C>T	VUS	1 lab	9d7f7526f3
3:172165600 GHSR C>T	3	172165600	172165600	C	T	GHSR	c.604G>A	NM_198407.2	NP_940799.1:p.(Glu202Lys)	NC_000003.11:g.172165600C>T	VUS	1 lab	9da0c8c996
X:53283849 IQSEC2 G>A	X	53283849	53283849	G	A	IQSEC2	c.1264C>T	NM_001111125.3	NP_001104595.1:p.(Arg422Trp)	NC_000023.10:g.53283849G>A	VUS	1 lab	9da525dd8b
3:71015168 FOXP1 C>T	3	71015168	71015168	C	T	FOXP1	c.1759G>A	NM_001244808.3	NP_001231737.1:p.(Ala587Thr)	NC_000003.11:g.71015168C>T	(Likely) benign	1 lab	9da8f73034
X:74295314 ABCB7 C>T	X	74295314	74295314	C	T	ABCB7	c.741G>A	NM_004299.6	NP_004290.2:p.(Thr247=)	NC_000023.10:g.74295314C>T	(Likely) benign	1 lab	9daf53de34
10:43601998 RET C>T	10	43601998	43601998	C	T	RET	c.1042C>T	NM_020975.6	NP_066124.1:p.(Arg348Trp)	NC_000010.10:g.43601998C>T	(Likely) pathogenic	1 lab	9db05796f2
3:46933960 PTH1R C>G	3	46933960	46933960	C	G	PTH1R	c.76-1437C>G	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46933960C>G	(Likely) benign	1 lab	9db77dbe69
22:29091797 CHEK2 G>C	22	29091797	29091797	G	C	CHEK2	c.1160C>G	NM_007194.4	NP_009125.1:p.(Thr387Ser)	NC_000022.10:g.29091797G>C	VUS	1 lab	9db7bd3339
2:179397822 TTN G>A	2	179397822	179397822	G	A	TTN	c.103520C>T	NM_001267550.2	NP_001254479.2:p.(Ala34507Val)	NC_000002.11:g.179397822G>A	VUS	1 lab	9dbec627b4
18:60027241 TNFRSF11A C>T	18	60027241	60027241	C	T	TNFRSF11A	c.575C>T	NM_003839.4	NP_003830.1:p.(Ala192Val)	NC_000018.9:g.60027241C>T	(Likely) benign	1 lab	9dc0d5bc59
11:62297886 AHNAK G>A	11	62297886	62297886	G	A	AHNAK	c.4003C>T	NM_001620.3	NP_001611.1:p.(Pro1335Ser)	NC_000011.9:g.62297886G>A	VUS	1 lab	9dc22baed4
6:161160219 PLG T>C	6	161160219	161160219	T	C	PLG	c.1997T>C	NM_000301.5	NP_000292.1:p.(Ile666Thr)	NC_000006.11:g.161160219T>C	VUS	1 lab	9dc25fd536
X:12734424 FRMPD4 GC>G	X	12734424	12734429	GC	G	FRMPD4	c.1851del	NM_014728.3	NP_055543.2:p.(Cys618ValfsTer8)	NC_000023.10:g.12734429del	(Likely) pathogenic	1 lab	9dca87a0a4
18:53303101 TCF4 C>G	18	53303101	53303101	C	G	TCF4	c.28=	NM_001243226.3	NP_001230155.2:p.(Pro10=)	NC_000018.9:g.53303101C>G	(Likely) benign	1 lab	9dccd95057
12:52139669 SCN8A C>CT	12	52139669	52139682	C	CT	SCN8A	c.1999-5dup	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52139682dup	(Likely) benign	1 lab	9dcd98a9ed
16:67281143 FHOD1 C>A	16	67281143	67281143	C	A	FHOD1	c.171G>T	NM_001318202.2	NP_001305131.1:p.(Ala57=)	NC_000016.9:g.67281143C>A	(Likely) benign	1 lab	9dcffa3bec
10:69961603 MYPN G>A	10	69961603	69961603	G	A	MYPN	c.3511G>A	NM_032578.4	NP_115967.2:p.(Ala1171Thr)	NC_000010.10:g.69961603G>A	VUS	1 lab	9dd230e059
7:116165360 CAV1 A>C	7	116165360	116165360	A	C	CAV1	c.-563A>C	NM_001172895.1	NP_001166366.1:p.?	NC_000007.13:g.116165360A>C	(Likely) benign	1 lab	9dd4c87823
8:124382185 ATAD2 GTCATCA>G	8	124382185	124382202	GTCATCA	G	ATAD2	c.801_806del	NM_014109.4	NP_054828.2:p.(Asp276_Asp277del)	NC_000008.10:g.124382197_124382202del	VUS	1 lab	9dd5c2296d
7:103205840 RELN C>T	7	103205840	103205840	C	T	RELN	c.5095G>A	NM_005045.4	NP_005036.2:p.(Glu1699Lys)	NC_000007.13:g.103205840C>T	VUS	1 lab	9ddafcb897
18:72776411 ZNF407 T>C	18	72776411	72776411	T	C	ZNF407	c.6734T>C	NM_017757.3	NP_060227.2:p.(Leu2245Pro)	NC_000018.9:g.72776411T>C	VUS	1 lab	9ddb70ff17
10:101458588 COX15 TG>T	10	101458588	101458591	TG	T	COX15	c.1102-2291del	NM_001320974.2	NP_001307903.1:p.?	NC_000010.10:g.101458591del	(Likely) benign	1 lab	9ddbb858df
1:3329183 PRDM16 G>A	1	3329183	3329183	G	A	PRDM16	c.2422G>A	NM_022114.4	NP_071397.3:p.(Gly808Ser)	NC_000001.10:g.3329183G>A	VUS	1 lab	9ddf5690af
2:71839945 DYSF AGGGGAGATGATGGGCAGGTCAGGGAAG>A	2	71839945	71839978	AGGGGAGATGATGGGCAGGTCAGGGAAG	A	DYSF	c.4333+16_4333+42del	NM_003494.4	NP_003485.1:p.?	NC_000002.11:g.71839952_71839978del	(Likely) benign	1 lab	9de5782a24
14:23587970 CEBPE C>T	14	23587970	23587970	C	T	CEBPE	c.331G>A	NM_001805.4	NP_001796.2:p.(Gly111Arg)	NC_000014.8:g.23587970C>T	VUS	1 lab	9de5d96827
10:105806506 COL17A1 C>G	10	105806506	105806506	C	G	COL17A1	c.2361G>C	NM_000494.4	NP_000485.3:p.(Gln787His)	NC_000010.10:g.105806506C>G	(Likely) benign	1 lab	9de6c383de
12:49431947 KMT2D A>C	12	49431947	49431947	A	C	KMT2D	c.9192T>G	NM_003482.4	NP_003473.3:p.(Asp3064Glu)	NC_000012.11:g.49431947A>C	VUS	1 lab	9de6e71a33
17:78162170 CARD14 G>A	17	78162170	78162170	G	A	CARD14	c.676-6G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78162170G>A	(Likely) benign	1 lab	9dec87a1b9
16:58621737 CNOT1 T>C	16	58621737	58621737	T	C	CNOT1	c.256A>G	NM_001265612.2	NP_001252541.1:p.(Asn86Asp)	NC_000016.9:g.58621737T>C	VUS	1 lab	9deccf831e
3:53125922 RFT1 T>C	3	53125922	53125922	T	C	RFT1	c.1623A>G	NM_052859.4	NP_443091.1:p.(Thr541=)	NC_000003.11:g.53125922T>C	(Likely) benign	1 lab	9deff5e793
11:65790527 CATSPER1 G>T	11	65790527	65790527	G	T	CATSPER1	c.1222C>A	NM_053054.4	NP_444282.3:p.(Arg408=)	NC_000011.9:g.65790527G>T	(Likely) benign	1 lab	9df436abdf
1:209803144 LAMB3 C>T	1	209803144	209803144	C	T	LAMB3	c.1070G>A	NM_001017402.2	NP_001017402.1:p.(Arg357Gln)	NC_000001.10:g.209803144C>T	VUS	1 lab	9df52a4215
2:164467542 FIGN G>GC	2	164467542	164467549	G	GC	FIGN	c.799dup	NM_018086.4	NP_060556.2:p.(Ala267GlyfsTer100)	NC_000002.11:g.164467549dup	VUS	1 lab	9df538967f
12:110729885 ATP2A2 AT>A	12	110729885	110729889	AT	A	ATP2A2	c.284del	NM_001681.4	NP_001672.1:p.(Leu95TyrfsTer4)	NC_000012.11:g.110729889del	(Likely) pathogenic	1 lab	9df53c211b
19:616122 HCN2 G>C	19	616122	616122	G	C	HCN2	c.2318G>C	NM_001194.4	NP_001185.3:p.(Gly773Ala)	NC_000019.9:g.616122G>C	(Likely) benign	1 lab	9df5d65a9d
18:21136231 NPC1 C>T	18	21136231	21136231	C	T	NPC1	c.1302G>A	NM_000271.5	NP_000262.2:p.(Pro434=)	NC_000018.9:g.21136231C>T	(Likely) benign	1 lab	9df88db034
16:2150430 PKD1 C>T	16	2150430	2150430	C	T	PKD1	c.9535G>A	NM_001009944.3	NP_001009944.3:p.(Val3179Met)	NC_000016.9:g.2150430C>T	VUS	1 lab	9df8edba36
6:74189574 MTO1 G>A	6	74189574	74189574	G	A	MTO1	c.938+7G>A	NM_001123226.2	NP_001116698.1:p.?	NC_000006.11:g.74189574G>A	(Likely) benign	1 lab	9dff6c0d19
1:20977002 PINK1 C>T	1	20977002	20977002	C	T	PINK1	c.1564C>T	NM_032409.3	NP_115785.1:p.(Leu522=)	NC_000001.10:g.20977002C>T	(Likely) benign	1 lab	9dffac1e3a
19:7605845 PNPLA6 GCGGCC>G	19	7605845	7605853	GCGGCC	G	PNPLA6	c.719_723del	NM_006702.5	NP_006693.3:p.(Ala240GlyfsTer51)	NC_000019.9:g.7605849_7605853del	(Likely) pathogenic	1 lab	9e0097c844
18:2960835 LPIN2 T>C	18	2960835	2960835	T	C	LPIN2	c.4A>G	NM_014646.2	NP_055461.1:p.(Asn2Asp)	NC_000018.9:g.2960835T>C	VUS	1 lab	9e16c8fa9b
16:11002133 CIITA C>G	16	11002133	11002133	C	G	CIITA	c.2657+127C>G	NM_000246.4	NP_000237.2:p.?	NC_000016.9:g.11002133C>G	(Likely) benign	1 lab	9e17ecf4e1
2:234227523 SAG A>G	2	234227523	234227523	A	G	SAG	c.181+82A>G	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234227523A>G	(Likely) benign	1 lab	9e1c07c57e
2:179440974 TTN G>T	2	179440974	179440974	G	T	TTN	c.69885C>A	NM_001267550.2	NP_001254479.2:p.(Ala23295=)	NC_000002.11:g.179440974G>T	(Likely) benign	1 lab	9e21a12587
1:227171484 COQ8A C>G	1	227171484	227171484	C	G	COQ8A	c.1185C>G	NM_020247.5	NP_064632.2:p.(Ile395Met)	NC_000001.10:g.227171484C>G	VUS	1 lab	9e24bd0ab0
19:40739513 AKT2 A>G	19	40739513	40739513	A	G	AKT2	c.*266T>C	NM_001626.6	NP_001617.1:p.?	NC_000019.9:g.40739513A>G	(Likely) benign	1 lab	9e2a8c1b82
2:179565921 TTN G>A	2	179565921	179565921	G	A	TTN	c.29657C>T	NM_001256850.1	NP_001243779.1:p.(Pro9886Leu)	NC_000002.11:g.179565921G>A	VUS	1 lab	9e2cf3b7d9
5:156074482 SGCD G>A	5	156074482	156074482	G	A	SGCD	c.511G>A	NM_000337.6	NP_000328.2:p.(Gly171Ser)	NC_000005.9:g.156074482G>A	VUS	1 lab	9e2dbe2b27
16:3706122 DNASE1 C>T	16	3706122	3706122	C	T	DNASE1	c.256C>T	NM_005223.4	NP_005214.2:p.(His86Tyr)	NC_000016.9:g.3706122C>T	VUS	1 lab	9e2e740ef4
11:65111289 DPF2 G>C	11	65111289	65111289	G	C	DPF2	c.539G>C	NM_001330308.2	NP_001317237.1:p.(Arg180Pro)	NC_000011.9:g.65111289G>C	VUS	1 lab	9e307038b2
12:52845435 KRT6B C>T	12	52845435	52845435	C	T	KRT6B	c.428G>A	NM_005555.4	NP_005546.2:p.(Ser143Asn)	NC_000012.11:g.52845435C>T	(Likely) benign	1 lab	9e30761b5f
19:55670762 DNAAF3 C>G	19	55670762	55670762	C	G	DNAAF3	c.1495G>C	NM_001256714.1	NP_001243643.1:p.(Glu499Gln)	NC_000019.9:g.55670762C>G	VUS	1 lab	9e31576fda
21:44492171 CBS G>A	21	44492171	44492171	G	A	CBS	c.133C>T	NM_001178008.3	NP_001171479.1:p.(Arg45Trp)	NC_000021.8:g.44492171G>A	VUS	1 lab	9e32a286cb
10:43608411 RET C>T	10	43608411	43608411	C	T	RET	c.1759C>T	NM_020975.6	NP_066124.1:p.(Arg587Trp)	NC_000010.10:g.43608411C>T	VUS	1 lab	9e342bcf9e
20:31387954 DNMT3B C>G	20	31387954	31387954	C	G	DNMT3B	c.1760-5C>G	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31387954C>G	(Likely) benign	1 lab	9e3837c48d
16:2129668 TSC2 C>T	16	2129668	2129668	C	T	TSC2	c.3395C>T	NM_000548.5	NP_000539.2:p.(Ser1132Leu)	NC_000016.9:g.2129668C>T	VUS	1 lab	9e3c93be19
17:42428086 GRN C>T	17	42428086	42428086	C	T	GRN	c.626C>T	NM_002087.4	NP_002078.1:p.(Pro209Leu)	NC_000017.10:g.42428086C>T	VUS	1 lab	9e3e3248e4
3:128615338 ACAD9 C>T	3	128615338	128615338	C	T	ACAD9	c.513C>T	NM_014049.5	NP_054768.2:p.(Ser171=)	NC_000003.11:g.128615338C>T	(Likely) benign	1 lab	9e437ab11e
22:42609135 TCF20 T>C	22	42609135	42609135	T	C	TCF20	c.2177A>G	NM_005650.4	NP_005641.1:p.(Gln726Arg)	NC_000022.10:g.42609135T>C	VUS	1 lab	9e43b452d7
17:73949540 ACOX1 G>C	17	73949540	73949540	G	C	ACOX1	c.822C>G	NM_001185039.2	NP_001171968.1:p.(Ile274Met)	NC_000017.10:g.73949540G>C	(Likely) benign	1 lab	9e47ece1e6
6:88240503 RARS2 T>C	6	88240503	88240503	T	C	RARS2	c.770A>G	NM_020320.5	NP_064716.2:p.(Lys257Arg)	NC_000006.11:g.88240503T>C	VUS	1 lab	9e4ad65918
2:11905636 LPIN1 GT>G	2	11905636	11905645	GT	G	LPIN1	c.139-14del	NM_001261428.3	NP_001248357.1:p.?	NC_000002.11:g.11905645del	(Likely) benign	1 lab	9e4b65c483
17:27066219 NEK8 G>A	17	27066219	27066219	G	A	NEK8	c.1417G>A	NM_178170.3	NP_835464.1:p.(Gly473Ser)	NC_000017.10:g.27066219G>A	VUS	1 lab	9e53f336af
11:125864818 CDON T>C	11	125864818	125864818	T	C	CDON	c.2492A>G	NM_016952.5	NP_058648.4:p.(His831Arg)	NC_000011.9:g.125864818T>C	(Likely) benign	1 lab	9e57e8525f
1:43888275 SZT2 G>A	1	43888275	43888275	G	A	SZT2	c.1894G>A	NM_015284.4	NP_056099.3:p.(Gly632Ser)	NC_000001.10:g.43888275G>A	VUS	1 lab	9e5971376a
9:137690318 COL5A1 A>T	9	137690318	137690318	A	T	COL5A1	c.2952+11A>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137690318A>T	(Likely) benign	1 lab	9e59f36850
12:50898973 DIP2B C>T	12	50898973	50898973	C	T	DIP2B	c.50C>T	NM_173602.3	NP_775873.2:p.(Pro17Leu)	NC_000012.11:g.50898973C>T	VUS	1 lab	9e5db561e9
10:72192776 NODAL C>T	10	72192776	72192776	C	T	NODAL	c.960G>A	NM_018055.5	NP_060525.3:p.(Pro320=)	NC_000010.10:g.72192776C>T	(Likely) benign	1 lab	9e5e65bc6f
15:51773461 DMXL2 AACTTCCATTGCCATC>A	15	51773461	51773479	AACTTCCATTGCCATC	A	DMXL2	c.5827_5841del	NM_001174116.3	NP_001167587.1:p.(Asp1943_Ser1947del)	NC_000015.9:g.51773465_51773479del	VUS	1 lab	9e629b164f
6:29911149 HLA-A C>T	6	29911149	29911149	C	T	HLA-A	c.448C>T	NM_002116.8	NP_002107.3:p.(Leu150=)	NC_000006.11:g.29911149C>T	(Likely) benign	1 lab	9e63b609d6
X:21666979 CNKSR2 C>T	X	21666979	21666979	C	T	CNKSR2	c.2723C>T	NM_014927.5	NP_055742.2:p.(Ser908Leu)	NC_000023.10:g.21666979C>T	VUS	1 lab	9e6424c1c6
1:62995053 DOCK7 C>T	1	62995053	62995053	C	T	DOCK7	c.3676G>A	NM_001271999.2	NP_001258928.1:p.(Asp1226Asn)	NC_000001.10:g.62995053C>T	VUS	1 lab	9e65dc165f
18:50592531 DCC A>G	18	50592531	50592531	A	G	DCC	c.1256A>G	NM_005215.4	NP_005206.2:p.(Lys419Arg)	NC_000018.9:g.50592531A>G	(Likely) benign	1 lab	9e66bfbef7
2:200173495 SATB2 A>AG	2	200173495	200173500	A	AG	SATB2	c.1727dup	NM_001172509.2	NP_001165980.1:p.(Glu577Ter)	NC_000002.11:g.200173500dup	(Likely) pathogenic	1 lab	9e738bfd80
7:92733338 SAMD9 C>T	7	92733338	92733338	C	T	SAMD9	c.2073G>A	NM_017654.4	NP_060124.2:p.(Trp691Ter)	NC_000007.13:g.92733338C>T	VUS	1 lab	9e78d10b04
10:69059977 CTNNA3 G>A	10	69059977	69059977	G	A	CTNNA3	c.580-80349C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69059977G>A	VUS	1 lab	9e79e5cf52
5:140907266 DIAPH1 T>TAAAAAA	5	140907266	140907289	T	TAAAAAA	DIAPH1	c.3149-8_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907284_140907289dup	(Likely) benign	1 lab	9e7b526fb6
3:48624611 COL7A1 C>T	3	48624611	48624611	C	T	COL7A1	c.3139+12G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48624611C>T	(Likely) benign	1 lab	9e7e246b35
X:73811721 RLIM G>GACTGGAACTGGA	X	73811721	73811736	G	GACTGGAACTGGA	RLIM	c.1417_1428dup	NM_183353.3	NP_899196.1:p.(Ser473_Ser476dup)	NC_000023.10:g.73811725_73811736dup	VUS	1 lab	9e7e8c988d
3:25647616 TOP2B A>G	3	25647616	25647616	A	G	TOP2B	c.4284-3T>C	NM_001068.3	NP_001059.2:p.?	NC_000003.11:g.25647616A>G	(Likely) benign	1 lab	9e7ec52f41
10:104416647 TRIM8 G>A	10	104416647	104416647	G	A	TRIM8	c.1192G>A	NM_030912.3	NP_112174.2:p.(Gly398Ser)	NC_000010.10:g.104416647G>A	(Likely) benign	1 lab	9e82e947ae
11:70319282 SHANK2 G>A	11	70319282	70319282	G	A	SHANK2	c.5242C>T	NM_012309.5	NP_036441.2:p.(Pro1748Ser)	NC_000011.9:g.70319282G>A	VUS	1 lab	9e86c7db8a
1:10720315 CASZ1 C>T	1	10720315	10720315	C	T	CASZ1	c.784G>A	NM_001079843.3	NP_001073312.1:p.(Glu262Lys)	NC_000001.10:g.10720315C>T	VUS	1 lab	9e8979adcb
15:45695154 GATM G>T	15	45695154	45695154	G	T	GATM				NC_000015.9:g.45695154G>T	(Likely) pathogenic	1 lab	9e89c02c51
17:44060672 MAPT C>T	17	44060672	44060672	C	T	MAPT	c.374-3734C>T	NM_005910.6	NP_005901.2:p.?	NC_000017.10:g.44060672C>T	VUS	1 lab	9e8b8695c2
20:60898832 LAMA5 C>T	20	60898832	60898832	C	T	LAMA5	c.5849G>A	NM_005560.6	NP_005551.3:p.(Arg1950Gln)	NC_000020.10:g.60898832C>T	VUS	1 lab	9e8bc55314
14:77709277 TMEM63C T>C	14	77709277	77709277	T	C	TMEM63C	c.1219T>C	NM_020431.4	NP_065164.2:p.(Trp407Arg)	NC_000014.8:g.77709277T>C	VUS	1 lab	9e8c9b2082
3:38052810 PLCD1 A>G	3	38052810	38052810	A	G	PLCD1	c.748T>C	NM_001130964.2	NP_001124436.1:p.(Ser250Pro)	NC_000003.11:g.38052810A>G	VUS	1 lab	9e8e71f601
15:73660400 HCN4 G>A	15	73660400	73660400	G	A	HCN4	c.212C>T	NM_005477.3	NP_005468.1:p.(Ala71Val)	NC_000015.9:g.73660400G>A	VUS	1 lab	9e9a596fe7
11:108137969 ATM AATGGAGGTGGAGG>A	11	108137969	108137984	AATGGAGGTGGAGG	A	ATM	c.2541_2553del	NM_000051.4	NP_000042.3:p.(Met847IlefsTer5)	NC_000011.9:g.108137972_108137984del	(Likely) pathogenic	1 lab	9e9b2183eb
3:129286652 PLXND1 C>T	3	129286652	129286652	C	T	PLXND1	c.3866-4G>A	NM_015103.3	NP_055918.3:p.?	NC_000003.11:g.129286652C>T	(Likely) benign	1 lab	9e9b83fc81
10:112542387 RBM20 T>A	10	112542387	112542387	T	A	RBM20	c.1276-737T>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112542387T>A	(Likely) benign	1 lab	9ea01ae761
21:46011470 TSPEAR C>T	21	46011470	46011470	C	T	TSPEAR	c.83-23581G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46011470C>T	(Likely) benign	1 lab	9ea0bc58cb
14:99977088 CCNK G>C	14	99977088	99977088	G	C	CCNK	c.1712G>C	NM_001099402.2	NP_001092872.1:p.(Gly571Ala)	NC_000014.8:g.99977088G>C	(Likely) benign	1 lab	9ea1c6b4c5
X:48760696 SLC35A2 A>T	X	48760696	48760696	A	T	SLC35A2	c.*1308T>A	NM_001042498.3	NP_001035963.1:p.?	NC_000023.10:g.48760696A>T	VUS	1 lab	9ea25db54b
8:77618189 ZFHX4 G>T	8	77618189	77618189	G	T	ZFHX4	c.1866G>T	NM_024721.5	NP_078997.4:p.(Leu622Phe)	NC_000008.10:g.77618189G>T	VUS	1 lab	9ea34b951b
10:69970068 MYPN G>A	10	69970068	69970068	G	A	MYPN	c.2937G>A	NM_001256268.2	NP_001243197.1:p.(Pro979=)	NC_000010.10:g.69970068G>A	(Likely) benign	1 lab	9ea382f598
14:50626352 SOS2 C>T	14	50626352	50626352	C	T	SOS2	c.1649G>A	NM_006939.4	NP_008870.2:p.(Arg550Gln)	NC_000014.8:g.50626352C>T	VUS	1 lab	9eaaca3001
16:89347932 ANKRD11 C>T	16	89347932	89347932	C	T	ANKRD11	c.5018G>A	NM_013275.6	NP_037407.4:p.(Gly1673Asp)	NC_000016.9:g.89347932C>T	(Likely) benign	1 lab	9eae4f446c
19:37904302 ZNF569 T>TG	19	37904302	37904303	T	TG	ZNF569	c.780dup	NM_001330482.2	NP_001317411.1:p.(Ser261GlnfsTer15)	NC_000019.9:g.37904303dup	VUS	1 lab	9eb64c62bd
19:49705335 TRPM4 T>C	19	49705335	49705335	T	C	TRPM4	c.3068T>C	NM_017636.4	NP_060106.2:p.(Leu1023Pro)	NC_000019.9:g.49705335T>C	VUS	1 lab	9eb72717f5
17:78157911 CARD14 G>C	17	78157911	78157911	G	C	CARD14	c.549G>C	NM_024110.4	NP_077015.2:p.(Glu183Asp)	NC_000017.10:g.78157911G>C	VUS	1 lab	9eb78acacd
15:44855487 SPG11 ATGT>A	15	44855487	44855494	ATGT	A	SPG11	c.7161_7163del	NM_025137.4	NP_079413.3:p.(Gln2387del)	NC_000015.9:g.44855492_44855494del	VUS	1 lab	9eb99e3217
1:78399139 NEXN A>T	1	78399139	78399139	A	T	NEXN	c.1226A>T	NM_144573.4	NP_653174.3:p.(Glu409Val)	NC_000001.10:g.78399139A>T	VUS	1 lab	9ebe898435
16:79245686 WWOX C>A	16	79245686	79245686	C	A	WWOX	c.1238C>A	NM_016373.4	NP_057457.1:p.(Ser413Tyr)	NC_000016.9:g.79245686C>A	(Likely) benign	1 lab	9ebffdbe23
3:176769343 TBL1XR1 T>G	3	176769343	176769343	T	G	TBL1XR1	c.376A>C	NM_024665.7	NP_078941.2:p.(Asn126His)	NC_000003.11:g.176769343T>G	VUS	1 lab	9ec3a9f634
14:102461319 DYNC1H1 T>C	14	102461319	102461319	T	C	DYNC1H1	c.3334-4T>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102461319T>C	(Likely) benign	1 lab	9ece22fd0b
7:21582964 DNAH11 A>T	7	21582964	21582964	A	T	DNAH11	c.101A>T	NM_001277115.2	NP_001264044.1:p.(Glu34Val)	NC_000007.13:g.21582964A>T	(Likely) benign	1 lab	9ed0ae6252
7:117246797 CFTR A>G	7	117246797	117246797	A	G	CFTR	c.2978A>G	NM_000492.4	NP_000483.3:p.(Asp993Gly)	NC_000007.13:g.117246797A>G	(Likely) pathogenic	1 lab	9ed1d49cb0
1:154437693 IL6R C>T	1	154437693	154437693	C	T	IL6R	c.1244C>T	NM_000565.4	NP_000556.1:p.(Pro415Leu)	NC_000001.10:g.154437693C>T	VUS	1 lab	9edc4f3fb6
X:10463737 MID1 G>A	X	10463737	10463737	G	A	MID1	c.757-6C>T	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10463737G>A	(Likely) benign	1 lab	9edf3f1063
20:23028541 THBD G>A	20	23028541	23028541	G	A	THBD	c.1601C>T	NM_000361.3	NP_000352.1:p.(Ala534Val)	NC_000020.10:g.23028541G>A	VUS	1 lab	9edf805b2b
X:77245314 ATP7A T>C	X	77245314	77245314	T	C	ATP7A	c.1196T>C	NM_000052.7	NP_000043.4:p.(Ile399Thr)	NC_000023.10:g.77245314T>C	VUS	1 lab	9ee0152cd6
19:13470560 CACNA1A T>C	19	13470560	13470560	T	C	CACNA1A	c.838A>G	NM_023035.3	NP_075461.2:p.(Thr280Ala)	NC_000019.9:g.13470560T>C	VUS	1 lab	9ee0d2a7e9
9:732580 KANK1 C>T	9	732580	732580	C	T	KANK1	c.3208C>T	NM_001256877.3	NP_001243806.1:p.(Gln1070Ter)	NC_000009.11:g.732580C>T	VUS	1 lab	9ee6d9a386
14:50666545 SOS2 T>A	14	50666545	50666545	T	A	SOS2	c.374A>T	NM_006939.4	NP_008870.2:p.(His125Leu)	NC_000014.8:g.50666545T>A	(Likely) benign	1 lab	9ee7dc732e
13:32914947 BRCA2 C>T	13	32914947	32914947	C	T	BRCA2	c.6455C>T	NM_000059.4	NP_000050.3:p.(Ser2152Phe)	NC_000013.10:g.32914947C>T	VUS	1 lab	9eeabc39c5
4:55979552 KDR G>A	4	55979552	55979552	G	A	KDR	c.895C>T	NM_002253.3	NP_002244.1:p.(Arg299Trp)	NC_000004.11:g.55979552G>A	(Likely) benign	1 lab	9ef0602bda
8:41573176 ANK1 C>T	8	41573176	41573176	C	T	ANK1	c.1596G>A	NM_000037.4	NP_000028.3:p.(Met532Ile)	NC_000008.10:g.41573176C>T	VUS	1 lab	9ef56ccadc
14:53619480 DDHD1 T>TACCGCC	14	53619480	53619481	T	TACCGCC	DDHD1	c.336_337insGGCGGT	NM_001160147.2	NP_001153619.1:p.(Gly111_Gly112dup)	NC_000014.8:g.53619480_53619481insACCGCC	(Likely) benign	1 lab	9ef69b050d
1:228346093 GJC2 G>A	1	228346093	228346093	G	A	GJC2	c.634G>A	NM_020435.4	NP_065168.2:p.(Val212Met)	NC_000001.10:g.228346093G>A	(Likely) benign	1 lab	9efa82837f
5:52942197 NDUFS4 A>G	5	52942197	52942197	A	G	NDUFS4	c.312A>G	NM_002495.4	NP_002486.1:p.(Arg104=)	NC_000005.9:g.52942197A>G	(Likely) benign	1 lab	9efca2b665
6:86324946 SYNCRIP T>A	6	86324946	86324946	T	A	SYNCRIP	c.1400A>T	NM_001159677.2	NP_001153149.1:p.(Tyr467Phe)	NC_000006.11:g.86324946T>A	(Likely) benign	1 lab	9f0197349e
13:32910804 BRCA2 T>G	13	32910804	32910804	T	G	BRCA2	c.2312T>G	NM_000059.4	NP_000050.3:p.(Leu771Ter)	NC_000013.10:g.32910804T>G	(Likely) pathogenic	1 lab	9f09793183
X:128696703 OCRL C>T	X	128696703	128696703	C	T	OCRL	c.1184C>T	NM_000276.4	NP_000267.2:p.(Ala395Val)	NC_000023.10:g.128696703C>T	VUS	1 lab	9f0d3644ab
2:179429244 TTN A>G	2	179429244	179429244	A	G	TTN	c.81615T>C	NM_001267550.2	NP_001254479.2:p.(Tyr27205=)	NC_000002.11:g.179429244A>G	(Likely) benign	1 lab	9f0d61379a
17:78179407 CARD14 C>T	17	78179407	78179407	C	T	CARD14	c.2647C>T	NM_024110.4	NP_077015.2:p.(Arg883Cys)	NC_000017.10:g.78179407C>T	VUS	1 lab	9f1401fad6
17:4927096 KIF1C C>T	17	4927096	4927096	C	T	KIF1C	c.2962C>T	NM_006612.6	NP_006603.2:p.(Arg988Trp)	NC_000017.10:g.4927096C>T	VUS	1 lab	a3ce79bb21
6:56425127 DST T>C	6	56425127	56425127	T	C	DST	c.14405A>G	NM_001374736.1	NP_001361665.1:p.(Glu4802Gly)	NC_000006.11:g.56425127T>C	VUS	1 lab	9f14ada6e9
4:55960975 KDR C>T	4	55960975	55960975	C	T	KDR	c.2965G>A	NM_002253.3	NP_002244.1:p.(Glu989Lys)	NC_000004.11:g.55960975C>T	VUS	1 lab	9f14dd305e
15:73659915 HCN4 T>C	15	73659915	73659915	T	C	HCN4	c.697A>G	NM_005477.3	NP_005468.1:p.(Met233Val)	NC_000015.9:g.73659915T>C	VUS	1 lab	9f14f08db9
5:140053886 HARS1 C>T	5	140053886	140053886	C	T	HARS1	c.1486G>A	NM_002109.6	NP_002100.2:p.(Glu496Lys)	NC_000005.9:g.140053886C>T	VUS	1 lab	9f19eb8208
15:28424086 HERC2 C>T	15	28424086	28424086	C	T	HERC2	c.9110G>A	NM_004667.6	NP_004658.3:p.(Arg3037Gln)	NC_000015.9:g.28424086C>T	VUS	1 lab	9f1ef294ea
15:77310814 PSTPIP1 C>T	15	77310814	77310814	C	T	PSTPIP1	c.154C>T	NM_003978.5	NP_003969.2:p.(Arg52Trp)	NC_000015.9:g.77310814C>T	VUS	1 lab	9f2310df8b
17:17699242 RAI1 C>T	17	17699242	17699242	C	T	RAI1	c.2980C>T	NM_030665.4	NP_109590.3:p.(Arg994Trp)	NC_000017.10:g.17699242C>T	VUS	1 lab	9f2bbefb4d
X:10176293 CLCN4 G>A	X	10176293	10176293	G	A	CLCN4	c.1052G>A	NM_001830.4	NP_001821.2:p.(Arg351His)	NC_000023.10:g.10176293G>A	VUS	1 lab	9f2e98bf71
14:94780608 SERPINA6 G>A	14	94780608	94780608	G	A	SERPINA6	c.378C>T	NM_001756.4	NP_001747.3:p.(Thr126=)	NC_000014.8:g.94780608G>A	(Likely) benign	1 lab	9f30cc8a51
X:50350728 SHROOM4 TTCC>T	X	50350728	50350750	TTCC	T	SHROOM4	c.3411_3413del	NM_020717.4	NP_065768.2:p.(Glu1151del)	NC_000023.10:g.50350748_50350750del	(Likely) benign	1 lab	9f31c4c746
20:13789545 NDUFAF5 C>T	20	13789545	13789545	C	T	NDUFAF5	c.775C>T	NM_024120.5	NP_077025.2:p.(Gln259Ter)	NC_000020.10:g.13789545C>T	(Likely) pathogenic	1 lab	9f32eafd21
15:75668071 SIN3A T>A	15	75668071	75668071	T	A	SIN3A	c.3526A>T	NM_001145358.2	NP_001138830.1:p.(Met1176Leu)	NC_000015.9:g.75668071T>A	VUS	1 lab	9f340ecbb5
9:132581156 TOR1A G>A	9	132581156	132581156	G	A	TOR1A	c.488C>T	NM_000113.3	NP_000104.1:p.(Ala163Val)	NC_000009.11:g.132581156G>A	(Likely) benign	1 lab	9f37c4f235
18:28914169 DSG1 T>G	18	28914169	28914169	T	G	DSG1	c.1005+4T>G	NM_001942.4	NP_001933.2:p.?	NC_000018.9:g.28914169T>G	(Likely) benign	1 lab	9f3981b8e6
16:16282803 ABCC6 G>A	16	16282803	16282803	G	A	ABCC6	c.1664C>T	NM_001171.6	NP_001162.5:p.(Thr555Ile)	NC_000016.9:g.16282803G>A	VUS	1 lab	9f3e654bd6
14:23855785 MYH6 C>G	14	23855785	23855785	C	G	MYH6	c.4698G>C	NM_002471.4	NP_002462.2:p.(Glu1566Asp)	NC_000014.8:g.23855785C>G	VUS	1 lab	9f403d25c1
17:38978650 KRT10 C>T	17	38978650	38978650	C	T	KRT10	c.188G>A	NM_000421.5	NP_000412.4:p.(Gly63Asp)	NC_000017.10:g.38978650C>T	VUS	1 lab	9f40c39c5d
1:3319489 PRDM16 G>A	1	3319489	3319489	G	A	PRDM16	c.811G>A	NM_022114.4	NP_071397.3:p.(Glu271Lys)	NC_000001.10:g.3319489G>A	(Likely) benign	1 lab	9f40cbbb3b
9:139405231 NOTCH1 C>T	9	139405231	139405231	C	T	NOTCH1	c.2614G>A	NM_017617.5	NP_060087.3:p.(Glu872Lys)	NC_000009.11:g.139405231C>T	VUS	1 lab	9f4247a111
20:62046496 KCNQ2 C>CAACAGACA	20	62046496	62046497	C	CAACAGACA	KCNQ2	c.1302-18_1302-17insTGTCTGTT	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62046496_62046497insAACAGACA	(Likely) benign	1 lab	9f427d43e1
6:7580387 DSP G>A	6	7580387	7580387	G	A	DSP	c.3964G>A	NM_004415.4	NP_004406.2:p.(Asp1322Asn)	NC_000006.11:g.7580387G>A	VUS	1 lab	9f43ee9ee1
13:32913910 BRCA2 A>C	13	32913910	32913910	A	C	BRCA2	c.5418A>C	NM_000059.4	NP_000050.3:p.(Glu1806Asp)	NC_000013.10:g.32913910A>C	(Likely) benign	1 lab	9f4b688fdb
2:179512134 TTN G>A	2	179512134	179512134	G	A	TTN	c.40115C>T	NM_001267550.2	NP_001254479.2:p.(Ala13372Val)	NC_000002.11:g.179512134G>A	VUS	1 lab	9f4bc6f7e4
2:179494160 TTN A>G	2	179494160	179494160	A	G	TTN	c.44292T>C	NM_001267550.2	NP_001254479.2:p.(Ile14764=)	NC_000002.11:g.179494160A>G	(Likely) benign	1 lab	9f4f6a924d
10:104404634 TRIM8 C>T	10	104404634	104404634	C	T	TRIM8	c.260C>T	NM_030912.3	NP_112174.2:p.(Pro87Leu)	NC_000010.10:g.104404634C>T	VUS	1 lab	9f520e7e5e
18:10800478 PIEZO2 C>T	18	10800478	10800478	C	T	PIEZO2	c.1240-5G>A	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10800478C>T	VUS	1 lab	9f52202f9b
13:111357899 CARS2 C>T	13	111357899	111357899	C	T	CARS2	c.244G>A	NM_024537.4	NP_078813.1:p.(Val82Ile)	NC_000013.10:g.111357899C>T	VUS	1 lab	9f578f297f
16:6704610 RBFOX1 A>G	16	6704610	6704610	A	G	RBFOX1	c.73A>G	NM_001308117.1	NP_001295046.1:p.(Lys25Glu)	NC_000016.9:g.6704610A>G	VUS	1 lab	9f5c53b3c7
15:31851176 OTUD7A C>G	15	31851176	31851176	C	G	OTUD7A	c.546G>C	NM_130901.3	NP_570971.1:p.(Gln182His)	NC_000015.9:g.31851176C>G	VUS	1 lab	9f65a85086
5:37008115 NIPBL A>C	5	37008115	37008115	A	C	NIPBL	c.4245A>C	NM_015384.5	NP_056199.2:p.(Ser1415=)	NC_000005.9:g.37008115A>C	(Likely) benign	1 lab	9f67632726
6:110424641 WASF1 G>A	6	110424641	110424641	G	A	WASF1	c.833C>T	NM_003931.3	NP_003922.1:p.(Pro278Leu)	NC_000006.11:g.110424641G>A	(Likely) benign	1 lab	9f68cb4f65
19:2434856 LMNB2 C>T	19	2434856	2434856	C	T	LMNB2	c.911G>A	NM_032737.4	NP_116126.3:p.(Arg304His)	NC_000019.9:g.2434856C>T	VUS	1 lab	9f6a201636
16:2098279 TSC2 A>G	16	2098279	2098279	A	G	TSC2	c.-30+213A>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2098279A>G	VUS	1 lab	9f6d37172b
5:98228403 CHD1 T>A	5	98228403	98228403	T	A	CHD1	c.2006A>T	NM_001270.4	NP_001261.2:p.(Glu669Val)	NC_000005.9:g.98228403T>A	(Likely) benign	1 lab	9f6f3e92a0
3:49053104 DALRD3 G>A	3	49053104	49053104	G	A	DALRD3	c.1549C>T	NM_001009996.3	NP_001009996.1:p.(Arg517Cys)	NC_000003.11:g.49053104G>A	(Likely) pathogenic	1 lab	9f6ff32820
15:56386883 RFX7 G>C	15	56386883	56386883	G	C	RFX7	c.3043C>G	NM_022841.7	NP_073752.6:p.(Pro1015Ala)	NC_000015.9:g.56386883G>C	VUS	1 lab	9f73f280f4
5:79950784 MSH3 G>C	5	79950784	79950784	G	C	MSH3	c.237+1G>C	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79950784G>C	(Likely) pathogenic	1 lab	9f7404cb84
16:75589726 TMEM231 A>G	16	75589726	75589726	A	G	TMEM231	c.444T>C	NM_001077416.2	NP_001070884.2:p.(Asp148=)	NC_000016.9:g.75589726A>G	(Likely) benign	1 lab	9f77af39c5
12:7053026 RNU7-1 T>C	12	7053026	7053026	T	C	RNU7-1	n.48T>C	NR_023317.1		NC_000012.11:g.7053026T>C	(Likely) benign	1 lab	9f7bdc8cb8
22:42609123 TCF20 C>T	22	42609123	42609123	C	T	TCF20	c.2189G>A	NM_005650.4	NP_005641.1:p.(Gly730Glu)	NC_000022.10:g.42609123C>T	VUS	1 lab	9f83fd7324
1:12520443 VPS13D C>T	1	12520443	12520443	C	T	VPS13D	c.12654C>T	NM_015378.4	NP_056193.2:p.(Ser4218=)	NC_000001.10:g.12520443C>T	(Likely) benign	1 lab	9f84cc1617
12:133218272 POLE G>C	12	133218272	133218272	G	C	POLE	c.5339C>G	NM_006231.4	NP_006222.2:p.(Ala1780Gly)	NC_000012.11:g.133218272G>C	VUS	1 lab	9f87e437c3
8:38279324 FGFR1 C>T	8	38279324	38279324	C	T	FGFR1	c.1072G>A	NM_023110.3	NP_075598.2:p.(Val358Ile)	NC_000008.10:g.38279324C>T	VUS	1 lab	9f898592e1
17:41228553 BRCA1 AC>A	17	41228553	41228555	AC	A	BRCA1	c.4435del	NM_007294.4	NP_009225.1:p.(Val1479CysfsTer26)	NC_000017.10:g.41228555del	(Likely) pathogenic	1 lab	9f89c4d1d2
17:78166422 CARD14 C>T	17	78166422	78166422	C	T	CARD14	c.1356+4C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78166422C>T	(Likely) benign	1 lab	9f89fa8fb6
9:138662301 KCNT1 C>T	9	138662301	138662301	C	T	KCNT1	c.1769+8C>T	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138662301C>T	(Likely) benign	1 lab	9f8bab922f
11:1477574 BRSK2 A>G	11	1477574	1477574	A	G	BRSK2	c.1669-4A>G	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1477574A>G	(Likely) benign	1 lab	9f909b7a13
6:143081449 HIVEP2 A>C	6	143081449	143081449	A	C	HIVEP2	c.5976T>G	NM_006734.4	NP_006725.3:p.(Asp1992Glu)	NC_000006.11:g.143081449A>C	VUS	1 lab	9f90a3ff9b
6:138655640 ARFGEF3 T>C	6	138655640	138655640	T	C	ARFGEF3	c.5657T>C	NM_020340.5	NP_065073.3:p.(Leu1886Ser)	NC_000006.11:g.138655640T>C	VUS	1 lab	9f926d42bf
18:11872359 GNAL A>G	18	11872359	11872359	A	G	GNAL	c.893A>G	NM_001142339.3	NP_001135811.1:p.(Tyr298Cys)	NC_000018.9:g.11872359A>G	VUS	1 lab	9f932cec24
16:28880692 SH2B1 C>T	16	28880692	28880692	C	T	SH2B1	c.1297C>T	NM_001145795.2	NP_001139267.1:p.(Arg433Cys)	NC_000016.9:g.28880692C>T	VUS	1 lab	9f9756b588
16:30727759 SRCAP G>A	16	30727759	30727759	G	A	SRCAP	c.2776G>A	NM_006662.3	NP_006653.2:p.(Ala926Thr)	NC_000016.9:g.30727759G>A	VUS	1 lab	9f9b2c4292
17:42985467 GFAP T>C	17	42985467	42985467	T	C	GFAP	c.1222A>G	NM_002055.5	NP_002046.1:p.(Ile408Val)	NC_000017.10:g.42985467T>C	VUS	1 lab	9f9ce600d7
7:42007426 GLI3 G>T	7	42007426	42007426	G	T	GLI3	c.2199C>A	NM_000168.6	NP_000159.3:p.(Thr733=)	NC_000007.13:g.42007426G>T	(Likely) benign	1 lab	9f9f053999
6:7576571 DSP G>A	6	7576571	7576571	G	A	DSP	c.2675G>A	NM_004415.4	NP_004406.2:p.(Arg892His)	NC_000006.11:g.7576571G>A	VUS	1 lab	9fa9e05bcc
15:55631502 PIGB AT>A	15	55631502	55631510	AT	A	PIGB	c.840del	NM_004855.5	NP_004846.4:p.(Phe280LeufsTer12)	NC_000015.9:g.55631510del	VUS	1 lab	9fabadbdd5
9:100459578 XPA T>C	9	100459578	100459578	T	C	XPA	n.45A>G	NR_027302.2		NC_000009.11:g.100459578T>C	(Likely) benign	1 lab	9fb098c918
14:23876312 MYH6 CG>C	14	23876312	23876315	CG	C	MYH6	c.120del	NM_002471.4	NP_002462.2:p.(Asp41MetfsTer29)	NC_000014.8:g.23876315del	VUS	1 lab	9fb401520b
X:32380942 DMD C>T	X	32380942	32380942	C	T	DMD	c.5288G>A	NM_004006.3	NP_003997.2:p.(Arg1763Gln)	NC_000023.10:g.32380942C>T	VUS	1 lab	9fbba70a10
2:47177506 TTC7A C>G	2	47177506	47177506	C	G	TTC7A	c.189C>G	NM_020458.4	NP_065191.2:p.(Asp63Glu)	NC_000002.11:g.47177506C>G	VUS	1 lab	9fbcf64f71
12:57492354 STAT6 T>A	12	57492354	57492354	T	A	STAT6	c.2093A>T	NM_003153.5	NP_003144.3:p.(His698Leu)	NC_000012.11:g.57492354T>A	VUS	1 lab	9fc5bcc178
16:16291892 ABCC6 C>T	16	16291892	16291892	C	T	ABCC6	c.1324G>A	NM_001171.6	NP_001162.5:p.(Val442Ile)	NC_000016.9:g.16291892C>T	VUS	1 lab	9fcb036972
15:90320133 MESP2 AAGGGCAGGGGCAG>A	15	90320133	90320146	AAGGGCAGGGGCAG	A	MESP2	c.546_558del	NM_001039958.2	NP_001035047.1:p.(Gln184ArgfsTer293)	NC_000015.9:g.90320134_90320146del	VUS	1 lab	9fcd09e55a
2:234681098 UGT1A1 G>A	2	234681098	234681098	G	A	UGT1A1	c.1495G>A	NM_000463.3	NP_000454.1:p.(Val499Met)	NC_000002.11:g.234681098G>A	(Likely) benign	1 lab	9fce372ba4
2:179434421 TTN G>A	2	179434421	179434421	G	A	TTN	c.76438C>T	NM_001267550.2	NP_001254479.2:p.(Arg25480Cys)	NC_000002.11:g.179434421G>A	VUS	1 lab	9fd17262f2
X:103045435 PLP1 C>A	X	103045435	103045435	C	A	PLP1	c.763-20C>A	NM_001128834.3	NP_001122306.1:p.?	NC_000023.10:g.103045435C>A	(Likely) benign	1 lab	9fd507106b
X:39923039 BCOR C>T	X	39923039	39923039	C	T	BCOR	c.3567G>A	NM_017745.6	NP_060215.4:p.(Ser1189=)	NC_000023.10:g.39923039C>T	(Likely) benign	1 lab	9fda970f59
18:32400811 DTNA C>T	18	32400811	32400811	C	T	DTNA	c.933C>T	NM_001198939.2	NP_001185868.1:p.(Ser311=)	NC_000018.9:g.32400811C>T	(Likely) benign	1 lab	9fe01ac95c
1:155207329 GBA1 C>T	1	155207329	155207329	C	T	GBA1	c.802G>A	NM_001005741.3	NP_001005741.1:p.(Ala268Thr)	NC_000001.10:g.155207329C>T	VUS	1 lab	9fe05e9474
3:9482386 SETD5 A>G	3	9482386	9482386	A	G	SETD5	c.810+4A>G	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9482386A>G	(Likely) benign	1 lab	9fe51645af
12:52115632 SCN8A C>A	12	52115632	52115632	C	A	SCN8A	c.1938C>A	NM_014191.4	NP_055006.1:p.(Asn646Lys)	NC_000012.11:g.52115632C>A	VUS	1 lab	9fff1e44df
16:56309845 GNAO1 T>A	16	56309845	56309845	T	A	GNAO1	c.164T>A	NM_020988.3	NP_066268.1:p.(Ile55Asn)	NC_000016.9:g.56309845T>A	VUS	1 lab	9ff04e45ec
18:44221958 LOXHD1 C>T	18	44221958	44221958	C	T	LOXHD1	c.287G>A	NM_144612.7	NP_653213.6:p.(Arg96Gln)	NC_000018.9:g.44221958C>T	VUS	1 lab	9ff7732cda
7:156521400 LMBR1 C>A	7	156521400	156521400	C	A	LMBR1	c.853G>T	NM_022458.4	NP_071903.2:p.(Ala285Ser)	NC_000007.13:g.156521400C>A	VUS	1 lab	9ff900e6d5
19:14854542 ADGRE2 A>T	19	14854542	14854542	A	T	ADGRE2	c.2238T>A	NM_013447.4	NP_038475.2:p.(Cys746Ter)	NC_000019.9:g.14854542A>T	VUS	1 lab	9ff9b3c1c1
8:144993817 PLEC G>A	8	144993817	144993817	G	A	PLEC	c.10253C>T	NM_000445.5	NP_000436.2:p.(Ala3418Val)	NC_000008.10:g.144993817G>A	VUS	1 lab	9ffc310e7e
X:106093524 TBC1D8B G>A	X	106093524	106093524	G	A	TBC1D8B	c.2107G>A	NM_017752.3	NP_060222.2:p.(Val703Met)	NC_000023.10:g.106093524G>A	VUS	1 lab	9ffce1c69c
2:214012519 IKZF2 G>A	2	214012519	214012519	G	A	IKZF2	c.52C>T	NM_001079526.2	NP_001072994.1:p.(Pro18Ser)	NC_000002.11:g.214012519G>A	VUS	1 lab	9ffd3e482e
19:4546246 SEMA6B C>T	19	4546246	4546246	C	T	SEMA6B	c.1720G>A	NM_032108.4	NP_115484.2:p.(Gly574Ser)	NC_000019.9:g.4546246C>T	VUS	1 lab	a005d6d2b7
18:11884598 GNAL A>C	18	11884598	11884598	A	C	GNAL	c.*3464A>C	NM_182978.4	NP_892023.1:p.?	NC_000018.9:g.11884598A>C	VUS	1 lab	a00715f242
17:78354661 RNF213 C>T	17	78354661	78354661	C	T	RNF213	c.13671C>T	NM_001256071.3	NP_001243000.2:p.(His4557=)	NC_000017.10:g.78354661C>T	(Likely) benign	1 lab	a01106f210
6:101166095 ASCC3 G>A	6	101166095	101166095	G	A	ASCC3	c.1935C>T	NM_006828.4	NP_006819.2:p.(Leu645=)	NC_000006.11:g.101166095G>A	(Likely) benign	1 lab	a012710483
9:98231130 PTCH1 G>C	9	98231130	98231130	G	C	PTCH1	c.2153C>G	NM_000264.5	NP_000255.2:p.(Ser718Cys)	NC_000009.11:g.98231130G>C	VUS	1 lab	a017449cf1
1:160319377 NCSTN T>C	1	160319377	160319377	T	C	NCSTN	c.353T>C	NM_015331.3	NP_056146.1:p.(Ile118Thr)	NC_000001.10:g.160319377T>C	VUS	1 lab	a019fd3869
2:175432636 WIPF1 G>A	2	175432636	175432636	G	A	WIPF1	c.1295C>T	NM_001077269.1	NP_001070737.1:p.(Pro432Leu)	NC_000002.11:g.175432636G>A	VUS	1 lab	a01c8dd625
10:75394301 MYOZ1 G>A	10	75394301	75394301	G	A	MYOZ1	c.443C>T	NM_021245.4	NP_067068.1:p.(Ala148Val)	NC_000010.10:g.75394301G>A	(Likely) benign	1 lab	a064d225cb
4:1222133 CTBP1 T>C	4	1222133	1222133	T	C	CTBP1	c.196-2A>G	NM_001328.3	NP_001319.1:p.?	NC_000004.11:g.1222133T>C	VUS	1 lab	a027de251a
1:12343654 VPS13D T>G	1	12343654	12343654	T	G	VPS13D	c.5495T>G	NM_015378.4	NP_056193.2:p.(Phe1832Cys)	NC_000001.10:g.12343654T>G	VUS	1 lab	a02a795eeb
12:40715840 LRRK2 G>A	12	40715840	40715840	G	A	LRRK2	c.5174G>A	NM_198578.4	NP_940980.4:p.(Arg1725Gln)	NC_000012.11:g.40715840G>A	VUS	1 lab	a02d85801d
8:27326838 CHRNA2 AGG>A	8	27326838	27326844	AGG	A	CHRNA2	c.339+12_339+13del	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27326843_27326844del	(Likely) benign	1 lab	a02ed12afc
12:21958187 ABCC9 A>T	12	21958187	21958187	A	T	ABCC9	c.4571T>A	NM_005691.4	NP_005682.2:p.(Leu1524Ter)	NC_000012.11:g.21958187A>T	VUS	1 lab	a033b509fa
15:41275094 INO80 AGCTGCAGAGGCC>A	15	41275094	41275113	AGCTGCAGAGGCC	A	INO80	c.4407_4418del	NM_017553.3	NP_060023.1:p.(Ser1471_Ala1474del)	NC_000015.9:g.41275102_41275113del	VUS	1 lab	a037f7a2bb
15:67073448 SMAD6 A>G	15	67073448	67073448	A	G	SMAD6	c.1066A>G	NM_005585.5	NP_005576.3:p.(Ile356Val)	NC_000015.9:g.67073448A>G	VUS	1 lab	a03a1fa2f2
19:55663263 TNNI3 C>T	19	55663263	55663263	C	T	TNNI3	c.572G>A	NM_000363.5	NP_000354.4:p.(Trp191Ter)	NC_000019.9:g.55663263C>T	(Likely) pathogenic	1 lab	a03d83d998
1:236911052 ACTN2 CAGAAG>C	1	236911052	236911059	CAGAAG	C	ACTN2	c.871_875del	NM_001278344.2	NP_001265273.1:p.(Lys291GlufsTer15)	NC_000001.10:g.236911055_236911059del	(Likely) pathogenic	1 lab	a03f095263
22:36685180 MYH9 C>A	22	36685180	36685180	C	A	MYH9	c.4508G>T	NM_002473.6	NP_002464.1:p.(Arg1503Leu)	NC_000022.10:g.36685180C>A	VUS	1 lab	a03ff3266d
8:144999425 PLEC C>G	8	144999425	144999425	C	G	PLEC	c.4753G>C	NM_000445.5	NP_000436.2:p.(Glu1585Gln)	NC_000008.10:g.144999425C>G	VUS	1 lab	a04225e509
17:59876554 BRIP1 C>T	17	59876554	59876554	C	T	BRIP1	c.1247G>A	NM_032043.3	NP_114432.2:p.(Arg416Gln)	NC_000017.10:g.59876554C>T	VUS	1 lab	a065c5915f
7:2257612 MAD1L1 G>A	7	2257612	2257612	G	A	MAD1L1	c.663C>T	NM_003550.3	NP_003541.2:p.(His221=)	NC_000007.13:g.2257612G>A	(Likely) benign	1 lab	a04a35057f
21:43254613 PRDM15 C>T	21	43254613	43254613	C	T	PRDM15	c.1426+1G>A	NM_001282934.2	NP_001269863.2:p.?	NC_000021.8:g.43254613C>T	VUS	1 lab	a04ec5a1b5
12:33003888 PKP2 A>T	12	33003888	33003888	A	T	PKP2	c.1190T>A	NM_004572.4	NP_004563.2:p.(Ile397Asn)	NC_000012.11:g.33003888A>T	VUS	1 lab	a052858b16
19:55341382 KIR3DL1 G>C	19	55341382	55341382	G	C	KIR3DL1	c.1106-1G>C	NM_013289.3	NP_037421.2:p.?	NC_000019.9:g.55341382G>C	(Likely) benign	1 lab	a059ff67c2
6:152655323 SYNE1 G>A	6	152655323	152655323	G	A	SYNE1	c.12401C>T	NM_033071.4	NP_149062.2:p.(Ser4134Leu)	NC_000006.11:g.152655323G>A	(Likely) benign	1 lab	a05a5ba2bf
9:140870366 CACNA1B A>G	9	140870366	140870366	A	G	CACNA1B	c.1551A>G	NM_000718.4	NP_000709.1:p.(Ala517=)	NC_000009.11:g.140870366A>G	(Likely) benign	1 lab	a05d16968f
18:25563011 CDH2 C>T	18	25563011	25563011	C	T	CDH2	c.2246G>A	NM_001792.5	NP_001783.2:p.(Arg749Gln)	NC_000018.9:g.25563011C>T	VUS	1 lab	a431556d54
1:12433896 VPS13D G>A	1	12433896	12433896	G	A	VPS13D	c.10900G>A	NM_015378.4	NP_056193.2:p.(Val3634Ile)	NC_000001.10:g.12433896G>A	VUS	1 lab	a06dc7fb27
6:32549356 HLA-DRB1 T>C	6	32549356	32549356	T	C	HLA-DRB1	c.630A>G	NM_002124.4	NP_002115.2:p.(Thr210=)	NC_000006.11:g.32549356T>C	(Likely) benign	1 lab	a06ef1d794
22:37453505 KCTD17 C>T	22	37453505	37453505	C	T	KCTD17	c.479C>T	NM_001282684.1	NP_001269613.1:p.(Thr160Ile)	NC_000022.10:g.37453505C>T	VUS	1 lab	a0737b54ef
18:6985655 LAMA1 C>T	18	6985655	6985655	C	T	LAMA1	c.5380-13G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6985655C>T	(Likely) benign	1 lab	a07425ca69
5:14330974 TRIO C>T	5	14330974	14330974	C	T	TRIO	c.1819C>T	NM_007118.4	NP_009049.2:p.(Gln607Ter)	NC_000005.9:g.14330974C>T	(Likely) pathogenic	1 lab	a07656b5b7
5:122506576 PRDM6 A>G	5	122506576	122506576	A	G	PRDM6	c.1270A>G	NM_001136239.4	NP_001129711.1:p.(Thr424Ala)	NC_000005.9:g.122506576A>G	(Likely) benign	1 lab	a07683def3
5:140908439 DIAPH1 C>T	5	140908439	140908439	C	T	DIAPH1	c.2848G>A	NM_005219.5	NP_005210.3:p.(Val950Met)	NC_000005.9:g.140908439C>T	VUS	1 lab	a07af940d0
12:111856643 SH2B3 G>C	12	111856643	111856643	G	C	SH2B3	c.694G>C	NM_005475.3	NP_005466.1:p.(Gly232Arg)	NC_000012.11:g.111856643G>C	VUS	1 lab	a07c4c9897
9:32541532 TOPORS A>G	9	32541532	32541532	A	G	TOPORS	c.2991T>C	NM_005802.5	NP_005793.2:p.(Asp997=)	NC_000009.11:g.32541532A>G	(Likely) benign	1 lab	a07d399571
5:180046492 FLT4 CAG>C	5	180046492	180046496	CAG	C	FLT4	c.2648-128_2648-127del	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180046495_180046496del	(Likely) benign	1 lab	a0801f6508
1:152280646 FLG CG>C	1	152280646	152280650	CG	C	FLG	c.6715del	NM_002016.2	NP_002007.1:p.(Arg2239GlyfsTer180)	NC_000001.10:g.152280650del	(Likely) pathogenic	1 lab	a0808b482e
17:63532579 AXIN2 C>CT	17	63532579	63532580	C	CT	AXIN2	c.1999dup	NM_004655.4	NP_004646.3:p.(Ser667LysfsTer40)	NC_000017.10:g.63532580dup	(Likely) pathogenic	1 lab	a080c02850
2:179404186 TTN C>T	2	179404186	179404186	C	T	TTN	c.98606G>A	NM_001267550.2	NP_001254479.2:p.(Arg32869His)	NC_000002.11:g.179404186C>T	VUS	1 lab	a086f9db88
1:17312526 ATP13A2 C>T	1	17312526	17312526	C	T	ATP13A2	c.3431G>A	NM_001141974.3	NP_001135446.1:p.(Arg1144His)	NC_000001.10:g.17312526C>T	VUS	1 lab	a089282bdf
18:32400747 DTNA C>G	18	32400747	32400747	C	G	DTNA	c.877-8C>G	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32400747C>G	(Likely) benign	1 lab	a0893b29eb
9:110249401 KLF4 T>C	9	110249401	110249401	T	C	KLF4	c.1172A>G	NM_004235.6	NP_004226.3:p.(Lys391Arg)	NC_000009.11:g.110249401T>C	VUS	1 lab	a089457317
16:30976142 SETD1A G>A	16	30976142	30976142	G	A	SETD1A	c.1079G>A	NM_014712.3	NP_055527.1:p.(Arg360His)	NC_000016.9:g.30976142G>A	VUS	1 lab	a08afb4035
X:100653054 GLA A>C	X	100653054	100653054	A	C	GLA	c.1033T>G	NM_000169.3	NP_000160.1:p.(Ser345Ala)	NC_000023.10:g.100653054A>C	VUS	1 lab	a08caaeec4
16:85695032 GSE1 C>G	16	85695032	85695032	C	G	GSE1	c.1609C>G	NM_001134473.3	NP_001127945.1:p.(Arg537Gly)	NC_000016.9:g.85695032C>G	VUS	1 lab	a090c32b59
6:7586062 DSP C>T	6	7586062	7586062	C	T	DSP	c.8567C>T	NM_004415.4	NP_004406.2:p.(Ser2856Phe)	NC_000006.11:g.7586062C>T	VUS	1 lab	a0918f195f
17:39914766 JUP C>T	17	39914766	39914766	C	T	JUP	c.1658G>A	NM_002230.4	NP_002221.1:p.(Gly553Asp)	NC_000017.10:g.39914766C>T	VUS	1 lab	a0938864aa
16:69353419 VPS4A T>C	16	69353419	69353419	T	C	VPS4A	c.593T>C	NM_013245.3	NP_037377.1:p.(Met198Thr)	NC_000016.9:g.69353419T>C	VUS	1 lab	a097d9d5af
13:41373249 SLC25A15 C>T	13	41373249	41373249	C	T	SLC25A15	c.112C>T	NM_014252.4	NP_055067.1:p.(Gln38Ter)	NC_000013.10:g.41373249C>T	(Likely) pathogenic	1 lab	a0c605629d
2:197172793 HECW2 AATG>A	2	197172793	197172796	AATG	A	HECW2	c.2448_2450del	NM_020760.4	NP_065811.1:p.(Ile817del)	NC_000002.11:g.197172794_197172796del	VUS	1 lab	a09c5d5a82
2:179527775 TTN T>A	2	179527775	179527775	T	A	TTN	c.36708A>T	NM_001267550.2	NP_001254479.2:p.(Glu12236Asp)	NC_000002.11:g.179527775T>A	VUS	1 lab	a0a17216b1
X:147800748 AFF2 A>G	X	147800748	147800748	A	G	AFF2	c.44A>G	NM_001170628.1	NP_001164099.1:p.(Lys15Arg)	NC_000023.10:g.147800748A>G	(Likely) benign	1 lab	a0af662660
16:89345767 ANKRD11 G>C	16	89345767	89345767	G	C	ANKRD11	c.7183C>G	NM_013275.6	NP_037407.4:p.(Gln2395Glu)	NC_000016.9:g.89345767G>C	VUS	1 lab	a0bb519dbd
7:98547352 TRRAP C>A	7	98547352	98547352	C	A	TRRAP	c.4948C>A	NM_003496.4	NP_003487.1:p.(Arg1650=)	NC_000007.13:g.98547352C>A	(Likely) benign	1 lab	a0bf674205
7:720290 PRKAR1B G>A	7	720290	720290	G	A	PRKAR1B	c.251C>T	NM_001164761.2	NP_001158233.1:p.(Pro84Leu)	NC_000007.13:g.720290G>A	(Likely) benign	1 lab	a0bf6e222c
8:75276531 GDAP1 G>T	8	75276531	75276531	G	T	GDAP1	c.1006G>T	NM_018972.4	NP_061845.2:p.(Ala336Ser)	NC_000008.10:g.75276531G>T	VUS	1 lab	a0bfe52006
19:7172446 INSR C>T	19	7172446	7172446	C	T	INSR	c.1124-1G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7172446C>T	(Likely) pathogenic	1 lab	a0c87adc75
4:126411278 FAT4 C>G	4	126411278	126411278	C	G	FAT4	c.13301C>G	NM_024582.6	NP_078858.4:p.(Pro4434Arg)	NC_000004.11:g.126411278C>G	VUS	1 lab	a0ce1e4ae2
12:52758148 KRT85 T>C	12	52758148	52758148	T	C	KRT85	c.632A>G	NM_002283.4	NP_002274.1:p.(Tyr211Cys)	NC_000012.11:g.52758148T>C	VUS	1 lab	a0cffe2914
7:100410418 EPHB4 A>G	7	100410418	100410418	A	G	EPHB4	c.2069T>C	NM_004444.5	NP_004435.3:p.(Met690Thr)	NC_000007.13:g.100410418A>G	VUS	1 lab	a0d0bd9079
6:88255438 RARS2 T>C	6	88255438	88255438	T	C	RARS2	c.452-21A>G	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88255438T>C	(Likely) benign	1 lab	a0d2f92c3d
6:29913037 HLA-A G>A	6	29913037	29913037	G	A	HLA-A	c.1072G>A	NM_002116.8	NP_002107.3:p.(Val358Met)	NC_000006.11:g.29913037G>A	(Likely) benign	1 lab	a0d6fb375d
3:155199812 PLCH1 C>T	3	155199812	155199812	C	T	PLCH1	c.4027G>A	NM_001130960.2	NP_001124432.1:p.(Asp1343Asn)	NC_000003.11:g.155199812C>T	VUS	1 lab	a0dc96e2ea
18:34339088 FHOD3 A>G	18	34339088	34339088	A	G	FHOD3	c.3901-1483A>G	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34339088A>G	VUS	1 lab	a0dd0c8663
3:111263991 CD96 G>A	3	111263991	111263991	G	A	CD96	c.160G>A	NM_198196.3	NP_937839.1:p.(Val54Met)	NC_000003.11:g.111263991G>A	(Likely) benign	1 lab	a0e7bf0e2d
17:60088088 MED13 G>A	17	60088088	60088088	G	A	MED13	c.1790C>T	NM_005121.3	NP_005112.2:p.(Thr597Ile)	NC_000017.10:g.60088088G>A	VUS	1 lab	a0ea31dcd8
8:11607635 GATA4 G>A	8	11607635	11607635	G	A	GATA4	c.799G>A	NM_002052.5	NP_002043.2:p.(Val267Met)	NC_000008.10:g.11607635G>A	(Likely) benign	1 lab	a0ee69fc95
18:32455309 DTNA C>T	18	32455309	32455309	C	T	DTNA	c.1610C>T	NM_001198939.2	NP_001185868.1:p.(Pro537Leu)	NC_000018.9:g.32455309C>T	(Likely) benign	1 lab	a0ef5de12d
1:120560310 MISSING 120626560>DEL	1	120560310	120626560	120626560	DEL	MISSING				NC_000001.10:g.120560310_120626560del	VUS	1 lab	a0f71937b6
10:43608408 RET C>T	10	43608408	43608408	C	T	RET	c.1756C>T	NM_020975.6	NP_066124.1:p.(Leu586Phe)	NC_000010.10:g.43608408C>T	VUS	1 lab	a0fd6d54aa
2:84928332 DNAH6 A>G	2	84928332	84928332	A	G	DNAH6	c.7930A>G	NM_001370.2	NP_001361.1:p.(Ser2644Gly)	NC_000002.11:g.84928332A>G	VUS	1 lab	a0fd734242
2:179464286 TTN A>T	2	179464286	179464286	A	T	TTN	c.56342T>A	NM_001267550.2	NP_001254479.2:p.(Val18781Asp)	NC_000002.11:g.179464286A>T	VUS	1 lab	a10432dc78
16:2812313 SRRM2 G>A	16	2812313	2812313	G	A	SRRM2	c.1784G>A	NM_016333.4	NP_057417.3:p.(Arg595Gln)	NC_000016.9:g.2812313G>A	VUS	1 lab	a106293373
X:153657081 ATP6AP1 C>T	X	153657081	153657081	C	T	ATP6AP1	c.43C>T	NM_001183.6	NP_001174.2:p.(Arg15Trp)	NC_000023.10:g.153657081C>T	(Likely) benign	1 lab	a1075d8110
2:179485937 TTN C>T	2	179485937	179485937	C	T	TTN	c.45508G>A	NM_001267550.2	NP_001254479.2:p.(Asp15170Asn)	NC_000002.11:g.179485937C>T	VUS	1 lab	a10c73a03e
X:18662607 RS1 G>A	X	18662607	18662607	G	A	RS1	c.465C>T	NM_000330.4	NP_000321.1:p.(Tyr155=)	NC_000023.10:g.18662607G>A	(Likely) benign	1 lab	a10da74edf
11:61546996 MYRF C>T	11	61546996	61546996	C	T	MYRF	c.2201C>T	NM_001127392.3	NP_001120864.1:p.(Ala734Val)	NC_000011.9:g.61546996C>T	(Likely) benign	1 lab	a110078466
3:33161947 CRTAP G>A	3	33161947	33161947	G	A	CRTAP	c.583G>A	NM_006371.5	NP_006362.1:p.(Glu195Lys)	NC_000003.11:g.33161947G>A	VUS	1 lab	a114837dfa
13:32972720 BRCA2 C>G	13	32972720	32972720	C	G	BRCA2	c.10070C>G	NM_000059.4	NP_000050.3:p.(Thr3357Arg)	NC_000013.10:g.32972720C>G	VUS	1 lab	a1184c2d31
20:8720976 PLCB1 A>C	20	8720976	8720976	A	C	PLCB1	c.2309-15A>C	NM_182734.3	NP_877398.1:p.?	NC_000020.10:g.8720976A>C	(Likely) benign	1 lab	a11ef0afc7
8:42693326 THAP1 C>A	8	42693326	42693326	C	A	THAP1	c.421G>T	NM_018105.3	NP_060575.1:p.(Asp141Tyr)	NC_000008.10:g.42693326C>A	VUS	1 lab	a128b518bc
2:179296971 PRKRA G>A	2	179296971	179296971	G	A	PRKRA	c.762C>T	NM_001139517.1	NP_001132989.1:p.(Ser254=)	NC_000002.11:g.179296971G>A	(Likely) benign	1 lab	a129c9c076
1:233314839 PCNX2 C>T	1	233314839	233314839	C	T	PCNX2	c.3149G>A	NM_014801.4	NP_055616.3:p.(Arg1050His)	NC_000001.10:g.233314839C>T	VUS	1 lab	a130b4ce23
10:100219374 HPSE2 T>A	10	100219374	100219374	T	A	HPSE2	c.1736A>T	NM_021828.5	NP_068600.4:p.(Tyr579Phe)	NC_000010.10:g.100219374T>A	(Likely) benign	1 lab	a1387310a2
11:2189718 TH C>T	11	2189718	2189718	C	T	TH	c.580+3G>A	NM_199292.3	NP_954986.2:p.?	NC_000011.9:g.2189718C>T	(Likely) benign	1 lab	a142ec9063
X:47003857 NDUFB11 C>G	X	47003857	47003857	C	G	NDUFB11	c.207+15G>C	NM_019056.7	NP_061929.2:p.?	NC_000023.10:g.47003857C>G	(Likely) benign	1 lab	a14a7416dc
7:113519796 PPP1R3A C>T	7	113519796	113519796	C	T	PPP1R3A	c.1351G>A	NM_002711.4	NP_002702.2:p.(Val451Met)	NC_000007.13:g.113519796C>T	(Likely) benign	1 lab	a150ef3465
18:47402055 MYO5B A>C	18	47402055	47402055	A	C	MYO5B	c.3537+2T>G	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47402055A>C	(Likely) pathogenic	1 lab	a152a2dd55
15:72106454 NR2E3 G>A	15	72106454	72106454	G	A	NR2E3	c.1096G>A	NM_014249.4	NP_055064.1:p.(Val366Met)	NC_000015.9:g.72106454G>A	VUS	1 lab	a158e679ea
3:195789489 TFRC C>T	3	195789489	195789489	C	T	TFRC	c.1432G>A	NM_003234.4	NP_003225.2:p.(Ala478Thr)	NC_000003.11:g.195789489C>T	VUS	1 lab	a15a24974d
11:6645264 DCHS1 G>A	11	6645264	6645264	G	A	DCHS1	c.7643C>T	NM_003737.4	NP_003728.1:p.(Pro2548Leu)	NC_000011.9:g.6645264G>A	VUS	1 lab	a15a54f371
2:152411562 NEB T>C	2	152411562	152411562	T	C	NEB	c.19315-4A>G	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152411562T>C	(Likely) benign	1 lab	a15b6696ab
10:101563815 ABCC2 G>A	10	101563815	101563815	G	A	ABCC2	c.1249G>A	NM_000392.5	NP_000383.2:p.(Val417Ile)	NC_000010.10:g.101563815G>A	(Likely) benign	1 lab	a15db913d2
16:2114386 TSC2 CCA>C	16	2114386	2114395	CCA	C	TSC2	c.1565_1566del	NM_000548.5	NP_000539.2:p.(His522ProfsTer66)	NC_000016.9:g.2114394_2114395del	(Likely) pathogenic	1 lab	a161cdf73e
11:6655083 DCHS1 G>A	11	6655083	6655083	G	A	DCHS1	c.2155C>T	NM_003737.4	NP_003728.1:p.(Arg719Ter)	NC_000011.9:g.6655083G>A	(Likely) pathogenic	1 lab	a161f1d4b3
X:53277408 IQSEC2 C>A	X	53277408	53277408	C	A	IQSEC2	c.2470G>T	NM_001111125.3	NP_001104595.1:p.(Asp824Tyr)	NC_000023.10:g.53277408C>A	VUS	1 lab	a165c2418d
3:38597927 SCN5A C>T	3	38597927	38597927	C	T	SCN5A	c.4437+5G>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38597927C>T	VUS	1 lab	a1667bee86
7:128478827 FLNC C>T	7	128478827	128478827	C	T	FLNC	c.1381C>T	NM_001458.5	NP_001449.3:p.(Arg461Cys)	NC_000007.13:g.128478827C>T	VUS	1 lab	a16e56d52e
1:172628493 FASLG C>T	1	172628493	172628493	C	T	FASLG	c.152C>T	NM_000639.3	NP_000630.1:p.(Pro51Leu)	NC_000001.10:g.172628493C>T	(Likely) benign	1 lab	a1722dc155
2:73675088 ALMS1 A>G	2	73675088	73675088	A	G	ALMS1	c.1436-2A>G	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73675088A>G	VUS	1 lab	a179a079db
8:145738767 RECQL4 CG>C	8	145738767	145738769	CG	C	RECQL4	c.2296_2297=	NM_004260.4	NP_004251.4:p.(Arg766=)	NC_000008.10:g.145738769del	(Likely) benign	1 lab	a17a45c602
X:63413106 AMER1 G>A	X	63413106	63413106	G	A	AMER1	c.61C>T	NM_152424.4	NP_689637.3:p.(Arg21Cys)	NC_000023.10:g.63413106G>A	VUS	1 lab	a17c85ad06
X:70598065 TAF1 ACTT>A	X	70598065	70598071	ACTT	A	TAF1	c.934-16_934-14del	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70598069_70598071del	(Likely) benign	1 lab	a183f513b7
12:6438575 TNFRSF1A A>T	12	6438575	6438575	A	T	TNFRSF1A	c.1271T>A	NM_001065.4	NP_001056.1:p.(Val424Glu)	NC_000012.11:g.6438575A>T	VUS	1 lab	a1845738c2
X:153581038 FLNA G>A	X	153581038	153581038	G	A	FLNA	c.6361C>T	NM_001456.4	NP_001447.2:p.(Pro2121Ser)	NC_000023.10:g.153581038G>A	VUS	1 lab	a1859fed14
11:19209812 CSRP3 G>T	11	19209812	19209812	G	T	CSRP3	c.152C>A	NM_003476.5	NP_003467.1:p.(Ala51Asp)	NC_000011.9:g.19209812G>T	VUS	1 lab	a18e9da360
X:9716623 GPR143 G>A	X	9716623	9716623	G	A	GPR143	c.539C>T	NM_000273.3	NP_000264.2:p.(Ser180Phe)	NC_000023.10:g.9716623G>A	VUS	1 lab	a191101ca7
6:106553249 PRDM1 C>T	6	106553249	106553249	C	T	PRDM1	c.1214C>T	NM_001198.4	NP_001189.2:p.(Ser405Leu)	NC_000006.11:g.106553249C>T	VUS	1 lab	a19528618c
12:9007380 A2ML1 AGG>A	12	9007380	9007383	AGG	A	A2ML1	c.2719_2720del	NM_144670.6	NP_653271.3:p.(Gly907SerfsTer20)	NC_000012.11:g.9007382_9007383del	(Likely) pathogenic	1 lab	a1972f7713
2:179444451 TTN C>A	2	179444451	179444451	C	A	TTN	c.67473G>T	NM_001267550.2	NP_001254479.2:p.(Leu22491=)	NC_000002.11:g.179444451C>A	(Likely) benign	1 lab	a197bbf76e
13:25481094 CPAP G>A	13	25481094	25481094	G	A	CPAP	c.1082C>T	NM_018451.5	NP_060921.3:p.(Ala361Val)	NC_000013.10:g.25481094G>A	VUS	1 lab	a19ba64da3
7:91603112 AKAP9 A>G	7	91603112	91603112	A	G	AKAP9	c.136A>G	NM_005751.5	NP_005742.4:p.(Lys46Glu)	NC_000007.13:g.91603112A>G	VUS	1 lab	a1a02b94d8
3:176769373 TBL1XR1 C>A	3	176769373	176769373	C	A	TBL1XR1	c.346G>T	NM_024665.7	NP_078941.2:p.(Ala116Ser)	NC_000003.11:g.176769373C>A	(Likely) benign	1 lab	a1a05a576c
4:5800368 EVC G>A	4	5800368	5800368	G	A	EVC	c.2153G>A	NM_153717.3	NP_714928.1:p.(Arg718Gln)	NC_000004.11:g.5800368G>A	VUS	1 lab	a1a6c72547
2:179458583 TTN G>C	2	179458583	179458583	G	C	TTN	c.58444C>G	NM_001267550.2	NP_001254479.2:p.(Pro19482Ala)	NC_000002.11:g.179458583G>C	VUS	1 lab	a1aae9b31c
6:160198395 ACAT2 G>A	6	160198395	160198395	G	A	ACAT2	c.819G>A	NM_005891.3	NP_005882.2:p.(Gly273=)	NC_000006.11:g.160198395G>A	(Likely) benign	1 lab	a1abfabe67
8:145640432 SLC39A4 G>A	8	145640432	145640432	G	A	SLC39A4	c.655C>T	NM_017767.3	NP_060237.3:p.(Arg219Trp)	NC_000008.10:g.145640432G>A	VUS	1 lab	a1ac9211b9
18:19424097 MIB1 TG>T	18	19424097	19424101	TG	T	MIB1	c.2098del	NM_020774.4	NP_065825.1:p.(Asp700IlefsTer8)	NC_000018.9:g.19424101del	(Likely) pathogenic	1 lab	a1b2f81bea
6:157098832 ARID1B A>AGCAGCGGCGGCG	6	157098832	157098835	A	AGCAGCGGCGGCG	ARID1B	c.20_21insAGCGGCGGCGGC	NM_001371656.1	NP_001358585.1:p.(Ala11_Ala14dup)	NC_000006.11:g.157098834_157098835insAGCGGCGGCGGC	(Likely) benign	1 lab	a1b3cde6bc
2:48132750 FBXO11 TGGGGCGGCTGCGGCGGCGGCTGCTGCG>T	2	48132750	48132782	TGGGGCGGCTGCGGCGGCGGCTGCTGCG	T	FBXO11	c.83_109del	NM_001190274.2	NP_001177203.1:p.(Pro28_Pro36del)	NC_000002.11:g.48132756_48132782del	VUS	1 lab	a1b7e15fb6
19:853345 ELANE G>T	19	853345	853345	G	T	ELANE	c.308G>T	NM_001972.4	NP_001963.1:p.(Arg103Leu)	NC_000019.9:g.853345G>T	(Likely) pathogenic	1 lab	a1bbe8fd85
2:179504832 TTN C>A	2	179504832	179504832	C	A	TTN	c.40729G>T	NM_001267550.2	NP_001254479.2:p.(Glu13577Ter)	NC_000002.11:g.179504832C>A	(Likely) pathogenic	1 lab	a1be64fffe
6:102483352 GRIK2 C>T	6	102483352	102483352	C	T	GRIK2	c.2222C>T	NM_021956.5	NP_068775.1:p.(Thr741Ile)	NC_000006.11:g.102483352C>T	VUS	1 lab	a1c55035e8
19:17448961 GTPBP3 A>C	19	17448961	17448961	A	C	GTPBP3	c.198A>C	NM_133644.4	NP_598399.2:p.(Thr66=)	NC_000019.9:g.17448961A>C	(Likely) benign	1 lab	a1c80ee5d1
X:110952279 ALG13 A>G	X	110952279	110952279	A	G	ALG13	c.834+3A>G	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110952279A>G	(Likely) benign	1 lab	a1c924da5f
1:44290530 ST3GAL3 A>G	1	44290530	44290530	A	G	ST3GAL3	c.382A>G	NM_174963.5	NP_777623.2:p.(Thr128Ala)	NC_000001.10:g.44290530A>G	(Likely) benign	1 lab	a1c9d980a7
17:48275489 COL1A1 A>G	17	48275489	48275489	A	G	COL1A1	c.588+33T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48275489A>G	(Likely) benign	1 lab	a1cce10ce0
2:179408003 TTN G>A	2	179408003	179408003	G	A	TTN	c.96697C>T	NM_001267550.2	NP_001254479.2:p.(Arg32233Ter)	NC_000002.11:g.179408003G>A	(Likely) pathogenic	1 lab	a1cf0621a3
2:179427091 TTN A>G	2	179427091	179427091	A	G	TTN	c.83768T>C	NM_001267550.2	NP_001254479.2:p.(Ile27923Thr)	NC_000002.11:g.179427091A>G	VUS	1 lab	a1d1cb4ec0
2:179438731 TTN G>A	2	179438731	179438731	G	A	TTN	c.72128C>T	NM_001267550.2	NP_001254479.2:p.(Ala24043Val)	NC_000002.11:g.179438731G>A	VUS	1 lab	a1d3562bb1
7:42012043 GLI3 C>T	7	42012043	42012043	C	T	GLI3	c.1996G>A	NM_000168.6	NP_000159.3:p.(Gly666Ser)	NC_000007.13:g.42012043C>T	VUS	1 lab	a1d6bc8afc
1:228412308 OBSCN G>A	1	228412308	228412308	G	A	OBSCN	c.2802G>A	NM_052843.4	NP_443075.3:p.(Ser934=)	NC_000001.10:g.228412308G>A	(Likely) benign	1 lab	a1d6fe2268
7:98567852 TRRAP G>A	7	98567852	98567852	G	A	TRRAP	c.7555G>A	NM_003496.4	NP_003487.1:p.(Ala2519Thr)	NC_000007.13:g.98567852G>A	VUS	1 lab	a1dd842049
9:109687500 ZNF462 T>C	9	109687500	109687500	T	C	ZNF462	c.1307T>C	NM_021224.6	NP_067047.4:p.(Met436Thr)	NC_000009.11:g.109687500T>C	VUS	1 lab	a1de24bbf1
X:153648515 TAFAZZIN C>T	X	153648515	153648515	C	T	TAFAZZIN	c.647-36C>T	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153648515C>T	(Likely) benign	1 lab	a1de51157c
18:11689669 GNAL CGGCCCT>C	18	11689669	11689680	CGGCCCT	C	GNAL	c.113_118del	NM_182978.4	NP_892023.1:p.(Leu38_Ala39del)	NC_000018.9:g.11689675_11689680del	(Likely) benign	1 lab	a1e2b3c247
4:57340483 SRP72 G>A	4	57340483	57340483	G	A	SRP72	c.536G>A	NM_006947.4	NP_008878.3:p.(Cys179Tyr)	NC_000004.11:g.57340483G>A	VUS	1 lab	a1e5588470
14:67291190 GPHN A>G	14	67291190	67291190	A	G	GPHN	c.202-2A>G	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67291190A>G	(Likely) pathogenic	1 lab	a1f0e1f87d
16:70531133 COG4 G>C	16	70531133	70531133	G	C	COG4	c.1472C>G	NM_015386.3	NP_056201.2:p.(Ser491Cys)	NC_000016.9:g.70531133G>C	VUS	1 lab	a1f29b4977
6:97339078 NDUFAF4 A>G	6	97339078	97339078	A	G	NDUFAF4	c.430T>C	NM_014165.4	NP_054884.1:p.(Leu144=)	NC_000006.11:g.97339078A>G	(Likely) benign	1 lab	a1f81bd162
2:179580516 TTN G>C	2	179580516	179580516	G	C	TTN	c.25640-15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179580516G>C	(Likely) benign	1 lab	a200382665
9:140055737 GRIN1 C>A	9	140055737	140055737	C	A	GRIN1	c.1340-4C>A	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140055737C>A	(Likely) benign	1 lab	a200a57494
4:74309145 AFP C>T	4	74309145	74309145	C	T	AFP	c.697C>T	NM_001134.3	NP_001125.1:p.(Arg233Ter)	NC_000004.11:g.74309145C>T	(Likely) pathogenic	1 lab	a204129ccc
X:49850686 CLCN5 C>G	X	49850686	49850686	C	G	CLCN5	c.983C>G	NM_001127899.4	NP_001121371.1:p.(Pro328Arg)	NC_000023.10:g.49850686C>G	(Likely) pathogenic	1 lab	a205b5b44c
2:48033800 MSH6 T>TAACTA	2	48033800	48033805	T	TAACTA	MSH6	c.4001+11_4001+15dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033801_48033805dup	(Likely) benign	1 lab	c34807027e
11:22294443 ANO5 CA>C	11	22294443	22294445	CA	C	ANO5	c.2145del	NM_213599.3	NP_998764.1:p.(Gln715HisfsTer6)	NC_000011.9:g.22294445del	(Likely) pathogenic	1 lab	a206c2190c
2:179416616 TTN A>G	2	179416616	179416616	A	G	TTN	c.91011T>C	NM_001267550.2	NP_001254479.2:p.(Thr30337=)	NC_000002.11:g.179416616A>G	(Likely) benign	1 lab	a2087ac3d7
2:179403702 TTN G>A	2	179403702	179403702	G	A	TTN	c.98960C>T	NM_001267550.2	NP_001254479.2:p.(Ser32987Phe)	NC_000002.11:g.179403702G>A	VUS	1 lab	a2120aee0a
5:71492978 MAP1B C>T	5	71492978	71492978	C	T	MAP1B	c.3796C>T	NM_005909.5	NP_005900.2:p.(Pro1266Ser)	NC_000005.9:g.71492978C>T	VUS	1 lab	a216ed2324
6:33419615 SYNGAP1 G>GCCCCCCC	6	33419615	33419620	G	GCCCCCCC	SYNGAP1	c.3968_3969insCCCCCCC	NM_006772.3	NP_006763.2:p.(Pro1326ThrfsTer39)	NC_000006.11:g.33419619_33419620insCCCCCCC	(Likely) benign	1 lab	a218676cde
7:113518434 PPP1R3A C>A	7	113518434	113518434	C	A	PPP1R3A	c.2713G>T	NM_002711.4	NP_002702.2:p.(Asp905Tyr)	NC_000007.13:g.113518434C>A	(Likely) benign	1 lab	a21985c020
18:2920358 LPIN2 G>A	18	2920358	2920358	G	A	LPIN2	c.2624C>T	NM_014646.2	NP_055461.1:p.(Pro875Leu)	NC_000018.9:g.2920358G>A	VUS	1 lab	a21f42086d
22:38369509 SOX10 C>T	22	38369509	38369509	C	T	SOX10	c.1394G>A	NM_006941.4	NP_008872.1:p.(Arg465Gln)	NC_000022.10:g.38369509C>T	VUS	1 lab	a222e39e57
17:17118314 FLCN T>C	17	17118314	17118314	T	C	FLCN	c.1523A>G	NM_144997.7	NP_659434.2:p.(Lys508Arg)	NC_000017.10:g.17118314T>C	VUS	1 lab	a224be1a89
22:29130654 CHEK2 G>C	22	29130654	29130654	G	C	CHEK2	c.56C>G	NM_007194.4	NP_009125.1:p.(Ser19Ter)	NC_000022.10:g.29130654G>C	(Likely) pathogenic	1 lab	a2277f2194
2:179431493 TTN C>T	2	179431493	179431493	C	T	TTN	c.79366G>A	NM_001267550.2	NP_001254479.2:p.(Glu26456Lys)	NC_000002.11:g.179431493C>T	VUS	1 lab	a2279491e5
1:981931 AGRN A>G	1	981931	981931	A	G	AGRN	c.3066A>G	NM_198576.4	NP_940978.2:p.(Ser1022=)	NC_000001.10:g.981931A>G	(Likely) benign	1 lab	a23110f86b
17:39768526 KRT16 C>G	17	39768526	39768526	C	G	KRT16	c.415G>C	NM_005557.4	NP_005548.2:p.(Glu139Gln)	NC_000017.10:g.39768526C>G	VUS	1 lab	a233d5f8dd
4:15981885 PROM1 G>GA	4	15981885	15981894	G	GA	PROM1	c.2462+159dup	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15981894dup	(Likely) benign	1 lab	a236d8d502
13:44464263 LACC1 C>A	13	44464263	44464263	C	A	LACC1	c.1147C>A	NM_001128303.2	NP_001121775.1:p.(Gln383Lys)	NC_000013.10:g.44464263C>A	VUS	1 lab	a23cd034f0
1:209799253 LAMB3 A>G	1	209799253	209799253	A	G	LAMB3	c.1716T>C	NM_001017402.2	NP_001017402.1:p.(Cys572=)	NC_000001.10:g.209799253A>G	(Likely) benign	1 lab	a241a5520b
X:138774209 MCF2 C>T	X	138774209	138774209	C	T	MCF2	c.-45+16056G>A	NM_001171876.2	NP_001165347.1:p.?	NC_000023.10:g.138774209C>T	(Likely) benign	1 lab	a243a20b5e
11:124761264 ROBO4 G>A	11	124761264	124761264	G	A	ROBO4	c.1879C>T	NM_019055.6	NP_061928.4:p.(Arg627Cys)	NC_000011.9:g.124761264G>A	VUS	1 lab	a245fa3602
10:89622051 KLLN G>C	10	89622051	89622051	G	C	KLLN	c.194C>G	NM_001126049.2	NP_001119521.1:p.(Ser65Ter)	NC_000010.10:g.89622051G>C	VUS	1 lab	a247305ed1
1:154842199 KCNN3 GGCTGCTGCTGCTGCTGCTGCTGCT>G	1	154842199	154842242	GGCTGCTGCTGCTGCTGCTGCTGCT	G	KCNN3	c.218_241del	NM_002249.6	NP_002240.3:p.(Gln73_Gln80del)	NC_000001.10:g.154842219_154842242del	VUS	1 lab	a2483acc58
1:111145942 KCNA2 T>C	1	111145942	111145942	T	C	KCNA2	c.1463A>G	NM_004974.4	NP_004965.1:p.(Asn488Ser)	NC_000001.10:g.111145942T>C	VUS	1 lab	a24e06133a
2:160294968 BAZ2B A>G	2	160294968	160294968	A	G	BAZ2B	c.1133T>C	NM_001289975.1	NP_001276904.1:p.(Leu378Ser)	NC_000002.11:g.160294968A>G	VUS	1 lab	a252a62c1a
1:151542170 TUFT1 G>C	1	151542170	151542170	G	C	TUFT1	c.518G>C	NM_020127.3	NP_064512.1:p.(Arg173Thr)	NC_000001.10:g.151542170G>C	VUS	1 lab	a252e97d62
1:220318931 IARS2 G>C	1	220318931	220318931	G	C	IARS2	c.2832G>C	NM_018060.4	NP_060530.3:p.(Gln944His)	NC_000001.10:g.220318931G>C	VUS	1 lab	a25364f5f6
20:23028516 THBD C>A	20	23028516	23028516	C	A	THBD	c.1626G>T	NM_000361.3	NP_000352.1:p.(Lys542Asn)	NC_000020.10:g.23028516C>A	VUS	1 lab	a254c7846a
6:111688851 REV3L G>A	6	111688851	111688851	G	A	REV3L	c.6140C>T	NM_002912.5	NP_002903.3:p.(Pro2047Leu)	NC_000006.11:g.111688851G>A	VUS	1 lab	a2564fb7db
12:56477694 ERBB3 A>T	12	56477694	56477694	A	T	ERBB3	c.234+8A>T	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56477694A>T	(Likely) benign	1 lab	a25ba74090
22:19906384 TXNRD2 A>G	22	19906384	19906384	A	G	TXNRD2	c.373T>C	NM_001282512.3	NP_001269441.1:p.(Trp125Arg)	NC_000022.10:g.19906384A>G	VUS	1 lab	a267b006e6
6:393175 IRF4 G>A	6	393175	393175	G	A	IRF4	c.23G>A	NM_002460.4	NP_002451.2:p.(Arg8Gln)	NC_000006.11:g.393175G>A	VUS	1 lab	a26b6ad317
2:26502875 HADHB T>C	2	26502875	26502875	T	C	HADHB	c.825T>C	NM_000183.3	NP_000174.1:p.(Val275=)	NC_000002.11:g.26502875T>C	(Likely) benign	1 lab	a26be8c46a
X:47004891 RBM10 G>T	X	47004891	47004891	G	T	RBM10	c.-126+7G>T	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47004891G>T	VUS	1 lab	a26c14766f
2:179428911 TTN A>G	2	179428911	179428911	A	G	TTN	c.81948T>C	NM_001267550.2	NP_001254479.2:p.(Leu27316=)	NC_000002.11:g.179428911A>G	(Likely) benign	1 lab	a272446ff5
11:103167527 MISSING Ref too long to show for this DUP>Alt too long to show for this DUP	11	103167527	103928773	Ref too long to show for this DUP	Alt too long to show for this DUP	MISSING				NC_000011.9:g.103167527_103928773delinsTGGTCTGAGACCCTTTTCTAGCCACTATCCTATTTTTTACTTCTTTCTAAACTCAAAATTGTTCATTTCTTTCTAGAACACATTCTTCTCTTGATTGTTATGTTTCTTTTTTCATTCCCCAACCCTCTTAGGCTGTTCCTTTTTACTTTCCTTTACTGGCTTCTTGTCTGCATGTCTTCTAAGTGTTAGAGTACTTTTCTTTTTTACTATAGTTTTACCCTGGGTTTTATTCTTTCATTATTACACATTCTCTCTGTAGGTGACCTTACCCAATCCCTGGATTTAAATATCATTCTTAAATTACTGATGCTTATATCTCTTATTTCCAGCCCTGGAATTCTAAGCTTGTATATTTAATGCTTATTTGATGTTTTTATATTAAAAACATCAAAAATAAATGTCTCAAATTTAATGTGATCAGTACAGAACTTTTGATTTTTTTATACTAGCATCTACTCAGTTGTTTAATCCAAAACCCCAAAAGTACAGTCATGTGTTGTTAAACAGTTAACAGTTTAGCAGTGTTGTTTAACAAAAGTACAGTCATGTGTTGTTAAACAGTTGTTTAACAGTTTAACAGTGTTTAACAAAAGTACAGTCGTGTTGTTTAACAGTGGGGATGCATTCTAAGAAATGTGTCAGGCAGTTTCATTGTGTGAATATCATAGAGTGTACGTAAACCTTGATTGTACACCCTCAGACACACCTAGGCTATGTAGTATAACTTATTGCTCTTAGGCTACAAACCCGTGCAGCATGTTACTGTACTGAATGCTATAGGCAATTGTAACACAGTGGTAGGTATTTGTGTCTCTAAACATAGAAAAGATACAGTAAAAATACAGCATTATAATCTTATGGAACAACCATGGTATACATGGTCCATCGTTGATTGAAAAGTCATTATGCAGCTCATGTAATTCTTTCCTCTCTTTTCTTTCTTTCTATACTCAATCTACCATCAAATTCTTTTGGTTTCAACCCTAAAACTTACTCTGAATTCATTTTATTTGCTTTATTAGTACCAACCTAATACAAGCTATCATCAGCTCTCAATTACTGCCATACCTTTTATTTGTTGTCTCTATGTTTAGAGTATATCCAGAATCCAGTCACTTCTCAGACCTTTAGGACTTTCTACCACTTTGTTTAAGCCACTTTTATATAAGCGAGATTATTACCATTCAGGCTTCTATCCTTCCCCACTTTAAGTCTATCCTCAACATAGCTGCTAAGTGCCTTTTGAAATATAAATTAGATCATATCACTTCTCTGCTCCAAGTCTTCTGATGGAATGTGACATCTCATCTTCTTCAGAATCCTTATAATGTCCTACAAGGTCTTACCCTCAGATCTTATCTCCTAACCACTCTTGACCCTTGCTCAGTTCTTTACCAACGTAATAGTCTTTTTCTTGTTTTTTTTACTGCTCTAAGTATGTTTCTGGAATATCAGAACCTTTGCACTTGCTGTTCCTATTGCTCAAACGCATGTTAAAATAAAACAGGACACTTTTCAGAGAGGTTCTTAAGAGAGGTTTTTTTTTCCTACCCATTTAGTCTTTAATATACGTTTTTTGTGCCACATGGCACATAACCTTTCTTACTGATTTTATAGTTTAACTCCCCATCAACTCTTTGAAATACTTATGGTACTATTTCATCTCCAGGTCAAATGACATTCAAGGTTTAATGGCATTAATTAAAAACCTCATATTATTTATATATTCAGATGCTTTGAAAGTTTAATACACTTTTAAAATCATACTATTTCTAAGCAAAAATTATGTTTACTATTGTATGGCTGTATGACTTTGTATTTGGTCAGGTAGCTTTATTAAATTGTTTTAATGTAAAATTGGAGTTTTTATTTCAGGAATAAGTTTTAAAAATTCAAATTACCAGAGAACAACAGGCACTTCCCTCTTTTTAATCAAATTTTAGAGCTTTGATTTTAAATGTAATTTCTCAAGCATCATTCATATGGAAAGATCTTTATTAAGTTTTAGCAATTTTTTATAATCTGTAAACCTTAAAATAGTAAGTTAAAAAGATGTATTTATGAAAGTAGTCTTGATTTGAATATTTAAATTAGCATAGCAGTCCTCAAAGCTTTTAGGGATGCCTGTTTAATATGATTCTACAAAGCAAGACTTATGTGCTGGCAAAATCTACTACGTTACTTTTTAGAAATGGTAGTGACCAGATGCAAGTATTCTTACTTCTGTAATTCTGATATAATTTTGACTTAAAATGACTATCATGAGGAGTATATTATACTATGTGTATTGAGGTATTGGAAATGTAAAGAGACATGTCCCCATACGGTGCTACAATAACTACAGTAACCAGAAATTTTTAAACGTTCTTCATCCAAAAGTTATTTTTGAACTATGCATCTTTCCTAGTTTTACAGTTCTGTACCTCTTATGGCATCATCCCATCCCATGCACCCTGCTTTCATAGCTCAATCTGTCTTATCAAGTTTGTGTCTAAAAGAAAGAAAGACATAAGGATATGTGCATTCATTTTCTGTTGCTGCTAGAAATTTATCAGGTTTAAACAATGCCCAGTTATCATCTTCTGCAGGTCAGAAACCTGATGGGCTCACCAGGTTTCTTTGCTCCAAGTTTTGGAAGCCCTGGGGAAAATCCACTTCCAAACCCATTCAGGTTCAGCCCTATTCAGTTTTAGGAGTGAGGTCCCCATTTTCTTTCTGTCTTTTGGTGTCATTCTCAGCTTTTGGATGCCAGTTGGTATCTAGCCTTCCTCCATCCTTAAAGCCAACATTAGCAGATCGATTCCTTTGCATGCTTCATATCACTCCTGTTTCTCTTTTCTGCTACACTTCTTTGACTCTAACAAGAGAAACTGCTCCGCTTTCAAGGGGTCAATTGATTAGCTTGGCCCACCTGAATAACACAGGATAATCTTCTTACTTTTAGGTTCATGACCTTAGTTACATTTGCAAAGTCCCTTCACAGCAGTACTTAGTTTAGTTTTTGATTGAATAACCAGGGCTTAGGATTCTTGAAAGAGGTATCTTTAGAATTCTGCCTACCACAATATATTTGACATTTTTACTTGTTTCTAGGGTTCAGTACTATTCCATTTCTAAAGTGCAGTTTCCCATTTAATTGGTTCATATATATTGGGTTAGGTAGTGGCTGTTGATTTTCCTCTTTTTATTGATGTTTGTGGTACATTTTTACAATTGTTTTCTCATAAAAGAAAGGTAATTTTATACATCTGATACTTATCAGCTCTTTGTTATGGAGGATGAGAGGAATTAAAAAGAATGAATCTATTATACTTACTACGTATAATAGTTTTGATAATTTGCCACTTTCTTTACTCAGGTACCTGCAAAGTACGGGAGTCAATTTGTTCCTTTTTGAACTGCAAGTTGTTTCTTTTTTGTTATCTCAGTATTGTATTTGCATAAAATAAAAAACAATAAAGGTTTCAGTTATTCGTTTGTCTTATTCTTATTTTTTTGAAGGAAGTGCTGTATTTATTTTTTAAATTATGGTCAGAATATAAAGTTCCAGTGATTTCCAAATAGTTTTACATGATAATTCACAGTGCAATTATTATTTTTGGCTCTCTAACTATATTAAATAGTTTTGAATGATTCATATTGATGATTCTGATGGTATCATGAATCAGAATTATTTGGATTGATAAAACCAGTATACTCAGTTCACTTAAAGTGCAACAGAAATTTTGCTGGAGTTTTGTGGGCAGGATGGCTAACATATAATTCCAAGTAACATGAATGTCACCTGTGTTATATTAAATGGCAAGGTATTTTTCATGATTTTTTTCTCCAACTCAAAATGTTTTATTGCTTTGAAATATTGTGTAAAATGAATTAATGGACATATATTTATATCCTGTGGGATTTTAAAATTAAAAGTTATAATTGAATTTACTAGGCTCTGGATAATAAAGTAGTGAAAGATTCAGTATGATTCTTGCCCTCATGAAGTTTACAGTGTACATTGGTTAAATAAACAAGTGGTATGGTAATCTGCATTTTAGCTTTTTTAGACAGTTTTTGTACTGGCATGTATTTTCCAAATAAAATACACTTAAGTCAGTAAGTAGTTATTTTAAATGTAAATATTTTATATATATTTTGACATTTTTATTGTATAATACATGGTAATTACAGGAGTATCAGAAAATGCATAGACATGAAAAGAAAATGAGAAACACCTGGTATTCCATCATTAACACTAATCATTGTTAACGTTTCTATGTATGCCTTTGCTTTCTTTTTATGCACATAGAAGTGTATACATTACAATATGGAATTATTGCCAAATCTCTTGAATGGTCTGATTTTTCTGTAAATTATCTTTTACCTCAACATGTTTGTAACTTCAGTTTTAATGTATGGCTATCAGAAATTACTCAGACTCCTGTTAGAAACTCAGTTTCTTTCTACCAGTTTTTAGCTAATATCAACAGCTACAATGAAAAGCCCTTGTACATGCTTCTGCGTCCATATCCTGAATTGTTTCTTAAGTTATTCTAATTTTAATTACTGATCAAGGCCATGTACATTTTTAAGACTTTTGATACACTTTATTAAATCAGACAATATATTTAATTGGCCTAGATGTTTATTGAGTTAATGAATAAATAACTGAATGCTTGAATCAATGGAAATATTTCTTACTGCATTGCAAGTATGTAAGAATTCTTTATTGCTAAATTTAAATTGCTAACAATTGAATAGTTGTTAGCAATTTAAACTTAGTTAAAAAGAAAATTTATAAAATATGCCTCTAAAAGCAATTCATCAATTTTAAGTGGCTCTTGGAGTAAATTTCACCTGTTATTAGGAATATTTCTGCCTTTGGAAATTCTTAGCATTATGGGTAGTTGTTGTGAAGAACAGACAAGGGTGCTGCTTTAGGCGTGAAATGTACCTTTTCTGGTTGGCTATCTAGAATTGTCTCTTTTGACCCATCATGATAACACAGAGTTTATATTTTAAAGTGTTTATTATTCTTAATTCTTTAAGGATGTCCATATCTGAGGTGCAGTCTTGTCTATTCACTTCTATTTTTGAGAATATATGGAAGCCTTTCTTGCCCATGTACTCATTCAGTTACATTCTCCTAATTTTTCGTTTATTTTTAAACTCCTGTGTAACACTCATTTTAGCTCAATTCAAACAAGTATATTTTAAATTATTAATTGACATGAGCCTTTTCAGTTTGGCCTTTATGAAATATATTAATAATGGAAACTTTCAAGTTTTAGCAGAAGAGATTTAAATATAATAGCAAAATTATAATCTCTTATCTGAATAGGACTTTATAGTTTGTGAAGGGCTACAGAGCAGAAAAATCACAGATGAATTGTTTAAATATAGTTAATGGTGGCAGCTGGGTGCCCTTTGGCAAGATAATCAATTTCTTTGAGTATTAGTTTTCTTACCTATAAAATTAATATAGTGATATTTGTTTCTCAGGAGCATTGTATGGTTTATATATCATTTAAATAAACTACCCAGTATAATGCTTAGTATTCAGTAGGTGATGAATAAATAGAATTTGTTACAATTATTATACTTATTTTGCTTCCAGAGTACCTGTGGATTGCTTTATCCTTGTTTTGCAATTGAGGAAACTGAGGCACAGTGCATTTTAATGATTTGCATAGAGTCATTTGGCTAACAAATATAAACTGACAGCTATGTACTTCTGTCTTAAATGAAGCATTCTTTTCACTCTCCATACAACTTTTTTTCCCCATAACACATGGGCATAAGAAATAACTTTTTGGCCTATATCATGCCAGTGAAATCATTTACTCAGATCATGAGAAATCTGATTCCCCATATGCGTGACACAGAGTAGGCACTCAACTATCATATCAGTTAATGAATTGTATTGTACTAATGAGATATATAGATTGATGGTTGGGTTCAGTCTTCTCTTGCATTGTGGTCTCAATTTACAGTACAGCTACAGGCCTGTATTGTGGTCTCAATTTACAACACAGATGTTAAATGTGGTAATCAGGGTACCTACCTCATAGCATTGTAATAAGAAGATGATATCATACGTGGAAAACATTTAGAAAAATGCCCGGCACCTTAAGCATAAAACAGATGTTGGCTATTACTAGTATATTATTTTAGAGTAGAAAAACTTTAATGTATTATGAGATTACAACTCACCTGGGTATTCTCTATTATATATCATATAATTAGATTTAATAAACTTTTTAATAATGCATACTGCTTTTATTTTTAATTTTTAAAATATATATTTTAGGACTGAAAGAGGTGTCCCCACTGCCTCTAAATCTCAAACGTTTATACAAAGAGACACTGGAAATTGAACCCATCTTGATAATTATTTCTCCGGGTGCTGATCCTTCTCAGGAACTTCAAGAACTAGCTAATGCTGAAAGAAGCGGAGAGTGTTATCACCAGGTAAGTACATATTGTCCCGCTGTTTTTGTTTTTGCTATTGCTGTTCCCACACTTGATGATATTGGTCAAATGGACATTTTTTGTTGTGATAAGCCAAATAATGCCCCCAAAAATGTCTATGTCCTAATCCTCAGAACTGTGGATATGTTATTTTCCATGGCAAAAGGAACTTTGCTGATGTAATTGAGGATCTTCAGATGGGAAGAGTAGCCTGGATTAGCCAGGTGGACCCAATATAAAATCACAAAGGTTTTTTATAAGAGGGAGGCAGGTGAGTCGAGAGTGCAGCTAGGAGATATGATGATAGAAGTAGAGGTCAGAGAAGTGAGAAGGTGCTGTGCTACTGGCTTTGAAGATGGAGGAACGGGCCATAAGGAAAGAAATGTAGGTGGCTTTCAGAAACTGGAAAAAACAAGGGAAGAATTATCTTTTAGAGCCTTTAGAAAGAACATAGCCCTATAGTAGTACCTTTGTTTTCAAACTCAGACCCTTGATTTTAGACCAGTGAAACTTCTGGCCGCCAGAAGTCTGATGGTAATTTAAGGCACTAAATCTGTTGTAATTTCTTAAAGCAGTTATAGGAAATTCATACATTTGCTACCATTTTGAGAATTATTTTTAAAATTTTACTTGGATGCTTTTATAATAAATCACAGTAATGTTTATTTACACTTTATTTACCTGACCTGAAAGAAATCCAGAAAATCTTGAGTAAAATGTATTCATTGTAATGCCATTTTTTTTTTCCCTGAGGTAGGAACTTTTGTTTGTTCAGGGTGCCTTTTTTTCAATTTGCATGTAAATTTGAAAATGAAATGTATTAATTCACCCTCAATTTTTAAGAAGTGAATACATCTTTTTCACAGGGAAAATAGTTAATAATGATTTTTTAAACAACTGAATACTTCATAGCAACCAAAAATTGAAAAGTGAAAATTCTACAAAGAAAAATATAAATGAAAGATAGCAAAATAGCAGCGCTGTTAGGCTCAGGTGTGAAGGTTTTGCACTAAGTCTAGAGAGTTCTAGTCAATCATAGTTAGAGTAGATTAGTTTATACATTAGGTCAATATTCAGTTATCAGTGAGGGATCTTAGGAAGGGGAGCTCTACAGATTGTACCTGTTACTAGTGATTTTGGCAGGAAGGTTAAACTATTCATATAAGCTTTTAATTATTTAATGAAGATTAATTTCTGGTATTAGTTTGATTCTTCTTCCAAATTTATTATTAAAGCCAGTTAGGAAGGTTTAGGGATTACTATTATTGAATCTCATACTGTTATATTACAACATGTTAGCAGATCTGTTTTTAAATTTTGTTTGTTTTTTTGCTTTTGTAGGTTGCCATGGGTCAAGGTCAAGCTGATTTAGCAATTCAAATGCTAAAAGAATGTGCCCGCAATGGAGACTGGCTCTGTTTGAAGAACTTACATCTTGTGGTATCTTGGCTGCCAGTTCTGGAAAAGGTAGATTCAGATAAATGTACAAATAATATCTATTATACTCAACTTAGCAATCTCCAAGGGACATCAGTATTAAAATGTCATGCATTATTTATGATGATTTAAAAAGTAATATTTGAGAAATTTTAAATTTAAATATTTCATAAATATGTACAATTCTGCAAAATAAGACATTAATAGGAAGTCTATAAAAATCTTTTTTTAAAGGCATATAAGAGAAGCCAAGACATTTTTAATGAAGATTGACAGGGAAGCTTAGAAGACATATTTATACCATGAGTTTCTTTTTTTGCTCTTATTCTGTTGATCTGTATTGGGAGAAGAGACATAGTGGGGTGTCAGAGGGAACTGCCTAACTTCCTAGGTGCTAAGGAAGCTAGAGAATAAACTGAAGCAAATGTTTCGTTTATCTCAAATGGACTCAGGAGAAAAATAATCTTAAGACAGGACAAGTCACTGGATGGGCTTTACATGCAAACCTAGATTTTATTCTAGTGCTTATTTAAGAAAGATGAGTAGGGTCTTGGGTAGTTAAAGATGATTCTGAAGAGATATTCCTTGAAAGTCAAATAGGATTTTGCTAAGTATAGGCAAAGAAAGGATATCATGATTTTAATTCCATCAGCACAAGTAGAGATAGTGTTGGGGATGTCCACCCCTAGTACAAGGAATGAAGAGATGTCCTTGATAGTACTAGACGGGCCAGGCAGGGAAGCGTGGGGAAATTGAATTAGATGACTAGGAAAGAGCTAGGTTATGGAATACCCTGAGAACCATGCAGAACATTTTGGAATTTTTGTCCTGGGACTTAGAGGGCCAAAGGAGGTCCTTAACAGAGAAGTTAGTAATTAATTAATTAATTAATTTTTTCTGGCAGTGGTATATAGAATAGAAACAAACAGAATAGAGTAAATTGAGGGAGGTCCTGCCCTAGGTGTGAGGTATTAAAAATCTCTGCAGTCCTAATTAATTGGCAACTACACACTTCCACAAATAGTCAGTAAATTTTTGATGAGTAAGTTAATGAGTGAGTGAATGAGTTGATGGACCATGGTGATTCGTGATTCATTACTTGTAATCAAGAGAAGATACAGATTTTGGACTATGAATATTCATGTAATTCTATTATGGCTTTCTGTAAAAATTACTAATGTGTAAAAATATAAAATTTATGTCTGATAAATCATATATGTTTTGTTTTGGGTTTTTTTTGAGACAGAATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAAGTTTGGCTCACTGCAACCTCCACCTCCCAAGTTCAAATGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGCGATTACAGGCATGCATCACCATGCCTGGCTGATTTTTGTATTTTTATTAGAGACAGGGTTTTGCCATTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCATCGCGCCTAGCCTGATAAATCATGTATGTTTTAAGATATGTAAAAAAGACTGGCAAATACTTGTACTGCTTTCTGTGTCAAACAGTTGATTGATAGCTACTAATCTATGTAAAATGTAATTAGAGTTATTATCTTGAAAGCACATCTTAATTAGAACTCGTAGAAACAGTACATAATATTATATAATTTTTAAAATAACTGATTATTATTTGCTTTTCTATTAGTTTGGGTGGATTGATTGGATATAAATTTATAAATTTACTGTAAATCCAACTATATCCAGCTATAAATCCAACTATATCACAATGTATTGTTTCTTTTACCTTTTAAATTTTTTTAGATTTGCTAACCCAAAGCAAAGTTTTATATAAACTTTACATTTTAAAGTTATGAGGTGTAAATACATTTTATCCTTTATAATTTTAAGCAAGCACAATGTTTTTAGGGCCATTCTTTTGTCATTTTTTTGTCATCTTAACTCTACATTTCACGTGATATTAAATGAATGTTAGTGTTAAACATCAATTATATTAAAATAATTTTTAGACTTCATTCTCTTTTAGAGCTATCAAAACTTCTTCTGTCATTTATTTATTCATTTATTAAATTTACAAATACTTGCTGAGTACAAGAAAAAGCCAGAAATTGTGCCAGGTTCTGGTTACCTACAGAATTTGTACCTGCTCTCTGGGAACTTAATTTAGAAGAGACAGATCACATTAATAACTATATTGTGGGATGAAGAATACTGTGGGAAAAATTTACAAAATGACATGGGTCATTAAATCTGGTTGGGATTGTGATAGTGAAGAGTTGGAGAAGATATTCCACTAAGACATAATATTTAAATTGTATTTTGACAGATAAGTAATAATTTGTCAGAGTACAAAGAGAATAATAGGCAGAGGAAATATGATGAGTAAAGATAGTCATAAGAGTCTGGATAAATGACTAAAGCCCACAGTATGAGAAGCATGGGCAGATGAATTTGTATGGTGAAGTTTTGAATTTATATTATAGGCCATAAGGTGCTACTAAAAATTGTAAATAAGGGAATTAATATCATTATATAACTCTGTAGAAGCATGAATTAAAGCAGTGAGAATCTAAAGACCTTAAGAAGGCTGGTAGTTTAGGCATAGCAATTGTAGCTAACACTTACTTTGAACTTACTATGTATCAGGCACTGTTTTAGTGTCTTAAACAATTCTTTGTGATAGGTGCTATTATTATCCTTGTTTAGAGATGGAATAAGTCAAAGAGACCAAGGTCACATAGCAGATTAGTGGCAAAGTATGAATTTCAACCCAGTCAACATGACTTTAGATGGAGATTCTTATTCATTACACTGAGCTAGTAATAGAAAAGATAAAAATTTAAAGGAAATATAACCAGAGCATTAAGAAATACATCAGAATGTCACAAAAGTTTTAATTAAAAATAGTTACTAATAATGTAATGTAAAAGAGAAACTTTCATATATATTTAAGTAAATTTTTGTCATTGGTTTTGTAAACAAGGAATTGAATACTCTTCAACCTAAAGATACCTTTCGTCTTTGGCTCACTGCAGAAGTTCATCCCAACTTTACTCCTATTTTACTACAGTCAAGTCTGAAGATAACATATGAGGTAAGAAGATTTAAAACTTGGATCACCAGTTGTATGAAAGCAGTACTCTATACATGACTTCTAAAACTTTGTAAACAACTATTATACAGAACACACAACTTCTTTTTACATTTAGATGAGGTATACATAGATAATAGCATAAGATGATGTAAAATACATTTAAATCTTTTCAAATTTTATTTCATACTTATGTTTTTTGTTTTTATTGTGGTAAGAAACACATAACATGACATTTGCTATCGTAACAATTTTTAAGTGTGTAGTGCAATATGCACCTTGTTGTGCAGTAGATCTGTAGAACTTTTTTTATCTTGCAAAATTGAAACTCTATGACCATTGAAGAGCAACTCTTCATTTTGCCCTATCCTCTGGCAACCACCATTTTACTTTCTAAGAGTTTGACTGCTTTAGCTACCTCATTTAGTAAAATCATGGATTATCTTTTTGTTATTTCACTTAACATAATGTCCTCAAGGTTCATCCATGTTTTAGCATGTGGCAGGATTTCCTTTCTTAAGATAGGATAATATTTCATTGTATGTATATACCACATTTTCTTTATCCATTAATCCATCAGTGGACATTTAGGTCTTTGACTTCTTGGCTGTTGTGAATAATACAGTGAACACTGGTGAGCACATATCTCTTCAAGATTCTGCTTTCAATTATTTTGGATATGTAGCCAGAAGTGGGATTGCTGCATCATATGGTGATTCTATTTTTAAGTTTTTGATGGAACTTCATACTGTTTTTCATAGTGGCTACATCGTTTTACATTCCCACTAGCACTGAACAATTTGTCCACATCCTCACCAACACTTTTCTTTGAGTGTGTGTGTTTAATAGTGGTCGTCTGAGTGGGTGTGAGGTGATGTCTGTTTGTGGTTTTGATTTGCATTTCCCTGGTAATGAGTAACGTTGAGCATCTTTCATATGTTTGGACATTTATATATCTTATTCGGAGAAATGTCTTTTCAAATTCTTTGCCTACTTTTAAAATTATTTAATTTTTTGCTGTTGAGTTGTATTAATAGTTCATTATATATTCTGGATACTAATTGCTTAGTATCTTATCAGATGTATGGTTTGCAAATATTCTCTCCCATTCTATAGATTGCTTTTCACTCTGTTGATTGTTCCCAACCTCCCTGCCTTCCTTCTATGCTTATGTCCATCCATCCTTGTATCTCTCTAATATGTAATGCTAGGTAGATCCAACCCAAACCTTATATAGCTAAAATTGTGTTTGTAATGATATTTTGTGATTTGTCAGAGTCATAAATGAAATAGCAAACTATTAAAACTGTCATTTTATTAGTGTTTGTAACTGCATGCTATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGATGCTATCACAGCTCACTGCAGTCTCGACCTGCTGGGCTCAAGCAATCCTCCCACCTCAGCTTTCTGAGTAGGTGGAATTACAGGTGCTTCACCACACCCAGATAATTTTTTTATTTCTTTTCTTTTTTTTTTTCTTTTTTTTGAGAGACGAGGCCTAACTATGTTGCCGAGGCTGGTCCTGAACTCCTTAGGCTCAAGCAATTCTCTTGTCTTGGCTTCCCAAAATGCTGGGATTACAGGCATGAGCCATTGTGCCTGGTCCTACCTGTTATTTTAGATCAGTACTGCTCTTTTTCATCTGAAGGTGTTTGTTTCATTTAAGGAAAAAAAAAAGGGTAAGCATTAATCCAGAAATGCAAAGATGATTTAATATTAGAAATATTTTAATTGAATGATTATAAGGTCTAGTAAGAAAGAACTTTCCCAGAATCTTCTCCAGCTACAATCCCACTATACAATTCTACTAATCTATATTCTAGGACTGGATTGCATGAGCCATGAGGGCAGGGGGTATTTTTTTTTGCTTGCATTTTTGAACTTAGCATGTAATTCAAGGCCAAGTAAGAGGAATTCAGTAAATATTTCGATAAGAGAGTATTATTATACCAGGTAAACTGTTCCTTGAATGTTTTAATGTGTAACCTTTTCTGGGATCTTGTTAAGAGGTAATTTGATTATATTTTTATGGGAATTTCCAATTTGATTTCAATTATTAGTGAATTTTTTTATTTCTTGAATCACTATAGGAAATTTTAACTATCTTAGCTTAGACTATCTGTGTAGTTCATTGAGATGTTCAAAATGATTATATGTATGTGCATATATATAATATGGGCATATATTATTTTTTAAAATTGTTAAATTCACTTCATTATTTTTTTCCTTTTTCGATTAGTTGTCAGAGTTGTTTAAAAAATTGTTTTTCCAAGTAACTGTTGCTATACTTATGAATTTGCTTTTTCTTATTCTTTTCATTTCACCGAATTTTCTTCTTTTTTCTGTTTTCCTTTCTAATGCTGTCTTTAGATTTTTTCTCGTTTTCTTCTTCCTGATTTCTTGAGTTGAATGGTTGTTTTGTATTTGCTTGTATTCATACTGAAATTGTTCTAAGTCTGAATTTGCAGCTTAATATGTCTTTGGCTTTATTTCATAATTTTGGCATATTAGTATTTTTGTTTCATTTATTTTTCAGTCTGTACTTATATGTGATTTTCTATGTAACTGTATAGGATTTATTAATTTGTATGATCTTTAGTGTAGTGCCTTTTTAAAAACTCTAAGTGGTTGTTTGGTTTCCTATTAATGTCATGTTTTATTGAGTAGTGTGCAGAAATTTGGCCTTATCTATGGTGGTTTTTGTAAATGTTTCATAAACATAAAAGCTTTCATTAAAAAAGTGTAAATTTGATAGGTACTTAATACTTCAGTAGTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGGGAGACTGAGTCTTGCTCTGTGCCCAGGCTGGAGAACAGTGGTGTAATCTTTGTAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCAATTATCCTGCCTCATCCTGCTGAGCAGCTGCGATTACAAGTGTGCACCACCACACCTGGCTAATTTTTTATTTATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACACACCTCAGCTTCCCTAAGTGCTGGGATTACAAGCGTGAGCCACCATACCCAGCCACTTTTTAAAGAAGAAGGTCGTTTTACTTAAGAAATAACAATGAAAAGGATTTCAAAGGGGATGACTAATTTTTGTAGTAGGCATTCTTAAAGTATTGCCCTGAATTTATTATTTTTATGTTAGAAACCATTTTGGAAGAAATATTTTATTTTTAAAACAAGCTAATTAGAATAACTTGGGCAGAAAAACCCACATTATATATTTTTTAATATTAGAATTCTTTTCGAGGGGGTTGTTTTGCTATTTTCCCATGAACTTGAAAAGTTATCATTTTGATAATTTAAAAAATAATGACAGATATGATACATATGGATGAACATTTTTAAAGATTTTATACTAGTCTGATATATAATTTCACTTCCTGGATTTTTGTGTCTATGAACCTAGCAATGTTAGGTAATACTTTAAATCTGGACTAATGCATAAGGAACGTTAGTTGACATTCTATGTAAATGGTATGTTGAATTCCTCATGGAAATTCAAATAGCAACTAGTAAGGGAAAGCTGCTGTATTAAACTCAAATACCTGTCCCATAACAATCAATATCACATTAGTATTATTAAGTAGTGATTTAGTGTCAGTGGGAAAAAAAAAACCTCTCAATCATCCTATAAAACTTATTTGGTTATTTTGAATATTATTGTATAGATTTTTAAATTTGAATAATTATTCTGTATTTATATTTGAGATGAACTGTTAGATATAAGCAATTTAACACTAGTTTTATGTACATTTTGAAGTAACATAATAATTTAACTCAAACCCGGTAAGCAGTGAAAAATTTTCTTTAAATTATGTTCTTAAATATGTTAAAATCTAATATATTTTACTTGTAGGATTTTAGCAATAGGATGTCTGTTGATTTTTTTTCTAGTCACCTCCAGGTTTAAAGAAGAATTTAATGCGTACTTATGAGTCTTGGACTCCTGAGCAAATTAGCAAAAAAGATAATACACATCGAGCTCATGCTCTCTTCAGTCTTGCATGGTTTCATGCTGCATGTCAAGAAAGAAGAAACTATATTCCTCAGGTAAGTAAGAACATGTCTTGAATACATTCTAAGCTTTATATTTTTGTATGTTAAAATATTTTTGTGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGTACTGTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTATAAGCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGTTTGTGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTAGTGGCACACGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAGAAAGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAACCAATTGTAATGTAGTATAAATAGCTAGGTTTACATATTTACATATTTACATAGTAATTTGGCTCATGACTTAAATTTATATCCTTAATTTGATCTTTTCTGCTAATCTAGACTGTATATAGCTAACTACTTCACGTCTCATTGTATTAAAGTATTAAGAACAATTTGTGACCCATTATAAGCCCTCAATGAGTGTTAGGTATCATTTTTATAGTTTATATTGCCTAGACGTCTCAAACTTCAAAACTTGTATTCCCCATACCAGTCAGTTCTTCCCAATAAAAGCCATTGGTATCTGTCTGCTTCCTCAGTCTATAAACTCAGGAGCTGTTCTTGATATGTTGTGTTTCTTAGCTTCCCTATCCAATCCATCATCAAGTCTTGTTAATTCTACTTCCAAAATATAATTTAAATATGTGTACTTCACCATTTTAAACCTCACCTCTCACCTGTACTACTTTCTGAATTTGTCTTCCAACTGTTCTTCCTACTTTTTGCATTTAGCAACCAGAATTATCTTTCTAATATCTGAGTTTGGTTATTACTTTGCTTAAAATTTATCAAGTGGCTTTTTATTGTACTTAGGGAAAAGATATGCCTTACCATAGTCCAGAAGAAAAGACCCACCTATCTCTTCAGCCTCCTCTCAGGCCCTTTGTGTCACTTGCATTCTATACTTCAGTCATGCTGGGCTTTTTTAAGGTCTTGAATCTGTCTACTCTTTCTCACCAAAGGCTCTCTATCTGTTATCGTCATCACAATCAATAAACTGCATTTTTTCCATTGCCATGGCAGTCATATCTGGTACTAATGGTCAATTCTTCTTGCCAAATGCTTCTCTCAGCTGTAAATTGCATCACTCTTCCATCTTTAAATTTTTCCCATCCTCTTTTTTCAACTTGGTCCACTTCTGTTGAGGAAAATCTCTCCTCAAACTTTCCCCCTCATGCTGCTCCCCTTTTAACCTCTCTGTTTCAGTGCCATGTCAAAACAAGAGCATAGGTTCTGGAGCTAGACAGACTTGCATTTGAGTCCTGACTTGAGAGTTTCCTTGCAGTGATACCTTGGGTAAACTGTTTTAACCCCCAAAAGCGTCAGTTGCCTCAACTGTAGAACGAGAGTAACAATCATATTTACCTTTATTGTGGGCATCAAATGAAATAGTGTATGTTTAATGCTTAACACAGTGTCTGATTTGTAGCCTGTCAATAAACATTTGTCAAACAGATGAAATAGTAAACAATAATAGCATTGTGTTGTTTCTTATAATATGTATACCACACTTATGGGGAGGACTCATTGATCATAGTTAACTTGCTCAAAGAATCACACCTAAAAAGTAGAGTTCCAAAATGGGTAGGCACATCTTCCTGTAAATCTTTTTTTTCCTGACTTCTCTGACCTCTGTCCTTAGCCTAATATATCAATTAATCCTGAAGGATAGATGAACAACACTGATAGTGATTTACCTTTATTGAGAAAAGTTACATTAAAAATTTAGATTTTATTATTAAGTTATATAGGCACATGGTATAAATAAAAAAGATATAAAATGGTTTGTAATGAAAAGTTAGGTTCCTCCCTACTTACTTCCCTGCCACCCACTTTCTATTCTGAGAGGGTCCACTATTAACCATTTCTTGTTTGTGCTTCAGAGAGATTGTATAAATACACAAACATATTAATTTCTATATGCATTTATGTTCTTTATAACTCAAACAGTAGGTAGCATATTACAAGCACAGCTCTGTACCTTGCTTTTTAAAACAATATGTTTGACATTGTTAAGTATCAGTGTCTATTTAATGCCTAACTTAAAAATATTATTTGTATTACATAATATTGCTATAATTTTTTAGCAGTTTTGGATTGTTGGATGGGCATATATATTCTTTTCAACTTTTGTGAATATAAAAAAATGTTGCAATGGAGATCCCTATGCATGCTTCATTTAACACCTATTTATAGCTGTCAATTTTTAAATGTGGAATATTTGGGTCAAAGAATATATGTATTTTTAGAAATCTGTAAATATTACCAAATTGTTATCCATAGGGGATACAGCAATTCACTTTCCCACAAAAAAAAAGTTGGAGAATGTCACTTTTTTTCATACCATACTGTTGTTGTCATAAAAATCATAACACTGGAGGTAAATGTAGACAAAATATATATACCTATGACATGGTCTCTAACAATAGAATTGTTAGAGACAATTTTTATTAGAGACATGTCATAGGTATATATATTAAGCAATATTGATAGCAACGGTTTTCTAATTTGGGGATTTTAAAAATACTGATCTTCAAGGTATTAAACATTTTTTAAAAATAAACTTTTTCACATACGGTCTAACAGAATGATATAAGAAATTTTATTAAGACTTTTGAATTGTTAGAAAGTTTAGATAAATATTAGAGGAATTTTGTTAATTGTTGATGGGTACATATCCTTTAGAGATCTTTAATTCTTAAATCTGCTAACAGCAAAATTTAAATCTTTTGTTTTCATAATATCCACAATGTTCTTTTTTTAAAAAAGTATCCAAATGCTATTGACCCCAAATTTACACATACAGCTCAGATCAATTTTCTAGGCTGTATGTTTGCATATCTGGCAGTTGACATATCCAGTTGGATGTCTCAAACATGTCTGAAAATTCACGTATTCTGGATCAAGCACTAGAATTTAAGCTTCCCAAGTGCACAGATATTTGCCTCTTGTTTATTGCTATGTTTTAATTGACGAAAACATGGCCTGGTATATAGCAGTCCAAAACTTATGTTTTTGTTTAATGTGTTTGTTTAAATGCTTTGTTAAGCTTTTGTTTGGTGATCTCATGATATTCCTTCCCAAACCTTGTATTCTTTCAGTGTTTCACTTATTAAGAATGACATCATCCATCATCAATTTGAATGAGCGATAAGCTTAGAAGTCATTCTTAACAGCCCTCTTTTTCATGTCTTCATACTCCATTACAATCCAATACAAAAATTCTGTTAGTTTTATTTTCCTAACGAGTTCTTAAATCTGTCTACTTTTATCTTTGTATGTCACCCCTCTCCCCATTAGGGTGACTTTCCCTCTCCTCTAGATTAGGTCAGATCTCTTTCATATGTGTGAAACATACTAAATGTTTCTCTCCATCAAAGTTATTATCATTTTACAGTTGCATATGTATTTGAGTGATTGTCTCCAGCCCACTCTTTCCCACGTTTTACTGAAAGCTACATGAGGGCAGGGATAATTTTTTTGTTCATTCTTATATTCCCAGAGCCTGACATATAATACATATTTTAAAAATATTTTTTGAGTGTTGAATGAATGAATGAAATTTGTATCAGTATTCCTAATATCCAAGTCTAAATATATTTTAATTTGAACTTATTTTATTACTTAGAACTAATTAGTCAATAGAAGCCATATAGAAATTATTTTATGTTTCAATTTATTGTCTACACAATATAGAGCTCTATGAATATTCATTTTATACAAACATTGTAGCTATTAGTTATAGTTATATAATTTTATTTAGTTCTGATACGCATGCTTTGTGGGTTCAATATGAATGAATATACTGCTATAAGCTTTTGGGCCTTTTTTTGTGCAGTATTTTTTTTTGTATGTTTGTGGAGAAAATCCACAATTCTGGAGGATAAAATTTTAGGAAATATCCCAATGTATATATAGCAATTAGAATAAAAAATGTAGTATATCAGTTTGTTCTCTATGATTGTGTTGCCACATAACTAACTAAAACTAGTATGGTATTATAAAGTACTTTTCATGCTATGGCCAGTTAATTTTTTTTAAGTTTACTGTTACTTTAGATTTATTATGTGTTGGTTTTATTAAAAATTCTCAGGAGTTATATATTTTTAAGTCTATATTGATCATTTAATTTAAAGACAGTGATACATACATATATATCTTTGACTACTGCTTAGTTGTTTACTTAAAAAAATTGTTTTTTGACAGGGTTGGACAAAGTTTTATGAATTTTCTTTATCAGATCTTCGGGCTGGGTACAACATTATTGACAGACTTTTTGATGGTAAGTTCTAACAAAAATTTTAATCTCATATTAATAAAATATTTTATCTGAGGTCTTATTAACTATGTTTTCTTCAGAAGTGGCTTAACTTCCTATCACAAAATTTGCTTGTGCTTTTTATTTTATTTTTTATTTGACTTCTATACCTGTGTTATCTCAGAGTTCTTATATGGATCTGTTTTTACATGGATTCTTCTTTCTGGGAGCAGAAGTCTAGAAAGACCTTGTTTTCACTTTGTGGCTTTCAAAAGTTTCAGGCACTAACTGAATTTTTCAGATGTCTTTCAGGGGAACTGTTAAAATTCAGGAGTATAGCAGACTAAGATTAGTACCAAGGATCTGTGGAGTCATAATTGAATTACTAAGTAGGATTCAGGAAACAAGGTACAAATAATAGATTGAAACACAGCAGCAAATAAAGCCATTTAATCTGACCCCCTAAGGCCATCTAGCTATCAGCCTCCTTGAAAACAGGAACAGTCTAATCTCTAAAGTTTATTGTGCAGGGCGAAGGGAGGGGGACACTAGAGTTTAGACCAATGATGGATTAGAGAATAGAGTATGTTGATAGTAATCTCAAACTTAAAAATATCACAAACAAATCTCTCAATTCCTGTCTCCTCCCCACCCCCAACCCTGCAACCCTGCCAAATACTTTTTCCTGATTCTGCCTCCGTTTCAGTAGATGGCCCACCATTCCTGTATTAATAGTTGTTCAAGGCTAAAGCCTGTGAGTCACCTTGGATTCTTTTTTTTTTTCTCATCCTCAGACATCCAGTGCTTTGGCAATTTCTATCCTTTGCAAATCACATCATGATTCTATTCGCTTATTTTCCAATGTGTTGGCAGTCCAAGCAATAATTTCTTACCTGGTCTTCTTCCACTTTAGCACCCTTGCAAACATTCTTCATACCATAAACAACTTTAGTTTTTAGAAATGCAAACCAAAGCATATAATTTTCCTGTTTAAAACCTATATCCATATTTGGCATCTTTGTGTTCCTCAAACAAGCCAGACTTGTTCTTACTTGAAGGTTTTAATAGGTGTTCTTCCTTCGGTCTGAAATGCTTTCCTCCCAAACTTTCATATGGCCTTCTTCTTCCTATTGTTCACTTCTCAGCTTGGATGTATCCTCTTGAGAAGAGAATTGCTTCTGGAGATTGATTTCTTACTGCTGAATCTGAAGTAATCTAATCATTCTCTATCCCTTTGTATTGTCATATTGTCTTAATACATTAGTACTACCTCGATATCTTCTTGTTTATTCATTTATTTTCTTATTTTGTTTCTCTTCCCACTAGAGCATTATCTATTTTAAAGTAAGATCTTTGTCTCGTTAACTGTGTATATCCTTGAGGTTTATAACAGTGCCTAGCCCATCATAGTTACTCAATTATTATTTCAGTTAATAGCATCAGAAATTTTTTCTATAACTTGTCTTTGGCAAAAGGATAAGGATGGACAGCTAGGATGTGGCCAAGTCCCATTTTAATTTATATATTTTTAAAGTTTAAAAAAACCTATTTAATGAAGTATATGGACAAAAAGTACTTACAAGATTATGGCTCACTGAAATTTCCACAAACTGAATTCCCCCACGTAGCCAGCACCTTAATCAAGAAACAGAACATTATAAGTACCACTGAATCTACTCATGTAATGTTGCCTTTCAGCCTCTACCATCCCCTAACTTTATCTTCCCCTGTTCCTGAGGTAGACACCAGACACCTAACTATATAGATTACTTTTGCCTGTTTTTGTAAAACTGGAAACATACAGCATATATGCTCTAGTGTTTGGGTTCCTGTAGTTAACATTATATTTGATAGATTCAGCTATGTGTTTGCATTTAGTTGTAGTCCATTTATTCTCAATGCTATACAGTATACCTTTGTGTAATTATATGTATTTCTGTTGATGGACATGCTGGTAGTTTTGAGTTTGGGATGATTATGGGTAATGCTGCTATACCTTTAGGTGAATATATAGATATATTTCTGTTGAGTATATATGTAGGAGTAGAATTGCTAGGCCACAGGTTATGCATTTGTTCACCATTACTAGTTAATGCCAAATAGTATTCCAAGAGAATTTTCTGTTTGTTTAAAAGATTTTTTAAAATTCTACATCAGAAAAGTACACATAAATGTACAATTCAATAAATTTTCCATAAACTGAACCTATGTAACTTGCCCAAAATAAAAAATAAAATAAGAACAGCATTATCAGTATTTTAGAAGTGGCTTCTTCCTACTCCTTTCTACCTATGACCCAACATTCCCCACCTCATACATGGGTAACTACTTTCCTGCACTACGTGAACTGTTGTTTTTAATATTTGACACAGATTTTTTTTTTGGAGGATATAAACTAATACTTTTTTCAGCTTGCCTAAAAACTTGGTAATTTTCCAAAATGCTTTTGAATATTTATTTGACTTTTATAATACCACTATGAGGCTATTAGTGTTAGTGCCTTTTCACAAAAGAGAAAAGCAAAACAGAATTTGAATGATGTATCATTGTGTTTCACGTTTGTGATAGAATTAATTAATAGCATTGTAAGACATAGATATATAAATAGGTATCTTACACCATTATGTTTTGAATAAAAGGCAGATGCTCTAAAATGATATTGAATCTGAGTAAAAATCTGTTAAATCTTGATTACAGAATTTTCTGACATGAAGGAACTTCCACATGTATAGAATTAAATGCCAAAAAAGAGAAAAAGGTCTAACTCTTGGGAACAATTGGTATTGAGAGTAATAGCCATGCGACCTAGAGCAAGTTTCCTAATCTTTAAGCCTGAGTTTCCTGATCTTTAAATTAGGAATGATAGTAGACACTATCTCAGTTTATTCGAATATCCAGAAGTTTAAATTACAAAAGCTACATGAAGCATTTAACATTTAGTACATTTAATATGTGGAGTTAAGCTATCAGTAATTGTTGGCTGTTATTATTGCTATTGTTGTAATTTAAGTTCTATTCATTTTATTTTATCCTGAACAACATAAAATTTGTTTTGAGAAAAATAGGTAGAAAAAAATAAGATTTTCTTATAAAAATTCGATAAAATATTTCACATAATGGCTGCTGTTTCTGTTTTATAAGTTGAAAGATACACTAATATGTCTGTATTCCTTAATGACTTATCAATGACTGGCTAACTTATCAGTGACTGTCTAAATGATAAAGGTATCATTTAGTGAGTATCAGGACAACTAGAAATTTGAGTCCTGGTGAAGTCCTTTGTTTAGTCACTGTTGACTATAAGATGTAGGCAGATAACAACTTTATTCTTCCACTATATAGGTCCCCTTATCCTGCAGGAGGCAACCTAAATCCCTTATGTTCCAAGGCATGTAGATAATCAATTTTTGTCATATCTCTAAATTTTATAGTAATGAAATGGAACTATGCTAGTAATGCTAACAATAAAGTTTATTAGCTAGTTTAAATGTAGTTATGTGTCTCCTGTATTTACTGTGATCTGAGATTTAATTCTTACATTTTAACATTACCACAAAATTGTGATGACAAGGATATTTCTGTTGCAAAATGAAATAATATACAAGAAGTTCCTCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGACAAAGCAGTGAGCTGAGATCGCGTCATTGCACTCCAGCCTGGGTGACAGAGTGAGACACCGTCTCAAAAAAACAAAAAACAAAAACAAAAAGTTCCATTGTGGCTTTTTAATATTACATTTCTCTTCTATTAAAATAGAAAGTGGATAGTTGACTATGTAAAATCATGACGTTTAGAAGAGTGTAATGTGTGAAGGTGTTTCATAGAGTTTCCCTGTTAATCAGATTATTTTATAAACTGACAGTTTCATCAAATGTGTAAAATTATGTTTTGGATAGGTTCTCTTAAGGAATTTCCAATTTAAGTAGCCAGGATTGTGTGGCAGATAATTCAGATAATCTGACTGGATTCAGAGTACCTCATTTCTATTTCAGATCTTCGAGATTGTATAACTTTCTCATTTTGGTGCCTCAGCCTCCCTATCCCTTAGGAAGGTTTCTCCATATGTATAATTGTATAATATTAATACTTCTATCTTTGCTATAAGGATTAAGTGAATTTATACATGTAAAATATTTGGAAAATTTTACTTGATTAAAAAATCTCAAATATTTACTACTATTAATAGTCATTTGAATAAATGATTTAGTTGTATTAAATACATTTGGCTACATGTTATAAATATAACTCAAGGCAGGAATTTAGTTAATATTTTAGAAATGAAATTAATGAGTGTTTTTTTAAAATTATAGGTGCCAAAGATGTACAATGGGAATTTGTACATGGTTTACTTGAAAATGCTATTTATGGAGGACGTATAGACAACTATTTTGACCTTAGAGTTCTTCAGTCATACCTGAAGCAGTTTTTTAATTCTTCAGTTATTGATGTATTCAACCAAAGGAACAAGAAAAGCATTTTTCCATATTCCGTATCTCTACCACAATCCTGCAGCATTTTGGTAGGTAAAATGAATGATTTTCAATCTATTTCCAGGTAGATACGTGAATCATTTCTTACATTGTTAAATACATGTTACTTCTTTTCAAATGCACAAGTAATTATTCACAGTTTGGATTATTTGTTATGACAATATATGGCTTGATTCTTTCAACTTTAGTGAGGCATCCTAAAAACTTTTGAGTACTTACTGAAAGTTGGGTGGTTGATCATAATAATAGGCTGGTATATAGACAGATCTTGAAGGGAGTGGCCAAAGAAAATTCAAATAAGGTAGGACTGCTGTGAAAAGCTGAAGTGGGAGAATATGCACTTCATAGTAGGCATGAGTATACTCTCATATATTGAAAAATATGAAAGAAGACAAATATTATTTAATAAATATGTGTCTTCAGTTTCTGGCTTGTACACTTAAAGCTTGTCTAAATATGTAAAATGAATTTACTTTGTTTTTCACAGCAACATTTTGTGTATTTTTTTCAGCCAGCTGTAGCTTTTTGCCTTGAGCCGTCACATGAAAGCCTCCTAGAATGTACTCATCTTTTCCAGAAAATAGTAATAAGTATAGCCAAAAGATTTCAATTTTGATTTATTTTGCCATAAACCTATCTGTGTATAAGTGTGCAAATAATTCTTTATTAGAGTACTATAATTATACATTTCTTCATGAATTACAAAGGCATATATCTATTCAATTATGTAGTTCTCTCAGTTTTGTGCTGTTTCCTTTCATCCAAATTTTTTTCAAGAAAAATCCTTCATTTGGCACATAATTGTCAAAAAATAAAAGTTTAAAAATCACTATTAAATATATTACTCTTACTGACTATCTTACTTATTACCTTAAGTATGCTGTTTTGTTTCTAGTATCTTTAATTTACTCATTCATTCAATAATATGCATTGAACATCTGCTCAGTGATAGTGCTGTTCTAGGTATTGTGGATATAGTAATGCACCTGTGGAGTTTACCTTCTAGCAGAACCTTAGAGGGAATGAATAAATAGAGAATATCGCATAATTACTATACATTTAACTCAGATAGTGTACCCCAACAAGTTTTCCAACTCTATTGTTAGAAGCTTACATTGAAAAATACAATTCATACAGAAATGTATACATCCTAAGTGCACAATTCCATGAATTTTCATACATAGACCACATGAGTGTAGCCAGTTCTGGGGTCAAGAAACAGAGTATTATTAGCTTCCCAGAATTTCTCCTTATGTTCCCTTCTAGTTACTACCTCTCCCACAAAGGGTACATTATACTTAACTCTAACAGCCTAGTTTTCTTGTTTTTGTGCTGTTTATATAAATTATATCACGTGGTATATATATATTTTTATGTACAAGTAAGGGTAAATCAGTCTGAATATGTAACTGCCAGTTACTAGTCAGCATATCACTGTATAGTTCTAGATAGACAGAAGACTCTAGCCAGTCTAGACAAGATTTCATAGCTATTTTGAAATAAGCAAAGTGTATAACTCTACAAAGAGTAAATATTTTTAAATTTATAGGATGACTTATGACAATCACTGTTTAGCTTTCTAATTGAGTTAGATGAAAGACACTGAATGTTTCCCACGATAATACATGCACACATATATGCAAACATACACTCATGTACATGTACATATACATTTATACGTATATATTGTGATTGAATACCTTGAGGAAGTTTACAAATGCTAAGCTAAAGGATTGGAAGAATTTCAAAGAACAGCATGACTTTCCAAAATGTGACATATTTACAGGCCCCGGACTTCCTGGAGTCCAACTGTCTCCTTGGAAATACTTCAGGGTCAGCTGCCAAGGATAAGAACGGATGAGGGGAAGTCAGAGGCCAAGTCTCCCATGCCTACTTCAGCAAACACGGTTTAGATGCACGTGCAGTACTTGCCTTAAAATAACTTCTCTTCATGAAAACAAAACAGTTTCCATGTTTAGGCCAAACTGAATAAGTGTTTTTGCCTGCACTTAGTTTTTGATTTAAAGTCATGAGTGAGTAACTGTTGAAATGAATGCTCAACAAGCCAAGCTTATTCAATGTGTAGGGTAATTCTTAGGATGAAATGATAGGATTATCAATGCATTTTATCACACCTCACCAGCAAACTGAAGACTAACTGGAATTGCTCTATTATAAAGCAATTTACAAAGCAGTGCTTCTACACGTTTACAAGGTTTCTCTAAGTTAAAAAGAAACAAAAGTAGATTGCCTGAATATATAAATATATATATATATATATAACTGCTTAATTTAACATGAGCAGAACTGCACTCTGCAGATTGGTCTTTGGTAAGTTATAGGAAAAAAATTACAGAGCTATCCTAAAAACATCTAACATGGTAGCTTACATATAGTAGGCATAATCACTCAAATATGTTGTAAATAATTCGGAGTCCCTTTGTATGTGGGAGTTATGATAAGAAAATATAATATCAAATAATTGAAGTGTGAAGAAGTATTAATGACAGAATACTTCCCACAGATAACTGAGTTAATATCATACAAAGTGAGATTTATCTAGAAAATAAAAATACAAATAATAATTGAACATTTCAAAGTATTCTTTCTTATTTCAATGATTGTAAGTTCAATCTTTATTTTTTAAAAAAACTGTTTTTCACTTCTTTATATTTAGGACTATCGTGCTGTCATTGAGAAAATTCCAGAGGACGACAAACCTAGTTTCTTTGGTCTGCCTGCCAATATCGCTCGCTCATCTCAGCGCATGATCAGTTCTCAGGTAACCTAAAAAAAAGATCTACCTTCAAAAAAAGTTGCTAGTGAGCCTGAAGGAGACAAAATTAAACTTGATTTAGTACTGTAGACCCCACAAGCTTTATTTAAACATTTTATTTTCACAACACATTCCAGTTTTACTTTAAATATATTTTTTAAAATATTTGATTTTCTGATTTTTTTTCTTTTTAAACTTTTATTTTAGACTCAGGGGAAATGTGCAGATTTGTTACATAGGTAAATTGTGTGTCGTAAGGGTTTGGTGTACAGATTATTTTATCACGTAGGTAATAAGTATAGTGCCCAACAGGTAATTTTTCGATCCTCCCTCTCCTCTCACCCTCCACCCTCAAGTAGGCCCTGGTGTCTGTTGTTCCCTTCTTTGTATCCATGTATACTCAGTGTTTAGATCTCACCTATAAGTGAGAACGTGGTATTTGGTTATCTGTTCCTGTGTTAGTTTGCTTATGAAAATGATCTCCAGCTCCATCCATCCTTGCTGTGAAGGACATGGTCTTGCTCCAGCTCCTTCACTTCCTTGCTGCAAAGGACATGGTCTTGTTCTTTTCTTATGTTGCATATTCCATGTTGTCTATGTATCACATTTTCTTTATTCAGTCTACCATTGATGGCCATTTAGGTTGACTCCATATCTTTGCTATTGTGGGTAGTGCTGCAGTGAACATTCATGTGCATATGTCTTTATGGTAGAACCATTTATATTCCTTTGAGTATATACCCAATAATGGGATTTCTGGGTCAAATGGTAGTTCTGTTTTAAGTTCTTCGAGAAATCGCCAAACTATTTTCCACAATGGTTGATCTAATTTGCATTCCCACCAGTGGTGTGTAAGCATTCCCTTTTCTCTGCAACCTTGCCAGCACCTGTTATTTTTTGACTTTTTAATAATAGCCAGTCTGATGGGCATGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGATCACAATGTCAAATATTTTTTCATATGTTTATTGGCCGTATGTATGTCTTCTTTTGAGAAGCATCTCTTCATGTTTTTTGCCCACTTTTTAATGGGCTTGTTTGTTTTTTGCTTGTTAATTTCTTTAAGTTCCTTATAGATTCTGGACATTGGACCTTTGTTGAGTACTTAGTTTGCAAACATTTTCTCCTATTCTGTAGGTTGTCTGTTTACTCTGTTGATAGTCTCTTTTGCTCTGCAGAAGCTCTTTAGTTAGGTCTCATTTGACAATTTTTGTTTGGGTTGCAATTGCTGTTGGCATCTTTGTCATGAAATTTTTGGGCCAGGGCCAATGTTCAGAATTGTATTTCCTAGGTTGTCTCCCATGGTTTTTATAGTTTTAGCTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTTTTGTATATGGTGGAAGGAGTGGGTCTAGTTTCCATCTTCTTCACATGGCTAGGTAGTTAACCCAGTACCATTTATTGAATAGGAAGTTCTTTCCCCACTGCTTGTTTTATGGACCTTGTCAAAGATCGTCAGATTGTTGTAGGTGTGTAGCTTTATTTCTAGGCCCTCTATTCTGTTCTGTTGGTTTATGTGTCTGTTTCCATAGTTCTCTTTGTGGAGATCTTTCACCTGTATACTGCTGTTAATACTTCTGATTGTATTATGAAATTCTTGTAGTGAATTTTTCCATTCCAGAAGTTCAGTTTGGTTCTTCCTTAAAATGCCTGTTTCATTTTTGAGCTCTTGGATTGATTTACTGGATACCTTGGATTCTTTGGATCGGATTTCAACTTTCTCCTGAATTTTGTTGAGCTTTTTTGCCACATTCTGCATTCTACGTCATTTCAGACATTTCAGTCTCATTAGGGACCGTTGCTGGTGGGCGGGGGATGGGCGTATAGTGGGCTCCTTTGAAGGTAAGGGGACACTGGCTTTTTGAATTGCCAGAGTTTTTTCTCTGATTCTCATCTGGTGGGGCTGGCGTTCCTTTAACTCTGATGCAAGTTGGGTGCACTCAGTTGGGTTTGGTTTGGGGCGCTTTCAGAGGGCCAAGGCTCTGTACAGTGTCTTTATTTGTGGGTGAATTCTTGCTCTTGGTTTCCGGCATCTATTAGCAGAATAATGTTTAGTGTTGTAGTTTGGGCTTCAGTCCAATAGATGGCGCTTAGGAGTAGTGGCTGGTAGATAGGCTCTTACTTAGCCCTGTGGTTTTTTTGTTATTTCCTTGTTTTCGCAGGCACGTTCTTGGGAGTAGAGGGAGGGGCGGGGAATAAAATCATCTCACCAGGGCCCCGTCCTTGGCTTTGAGTGAGCCTCTTCTGATCATTGGCTCCTTCCCCGGGTTTCTTTTGCTATGTGTTCGGGGTGGTTGGGCTCCCTCTGACAGGCTGCATCCGGGAGATAGGCCGGCCATACGCTTTCTGGGCCAGCCCTGTGGAGGGACGTACGAACCGCCTCTGTGCTGGCCCACAAACCTGCACGTCCCACCCCTCTCAGTGATCTGAGGGTGGGCGCTTCTCCCCAGCTCCAGTGTTGGCCGCAGATCTGGGCTCGGTACTCCTGAGCTGCAGACCGCATTCCGGGGACACTGGAACAGCCCTTGGCTTGGGGTCAGACTCTGGCAGCACTGGGGGATCTGAAGTGCCCCTAGGTTACTTGGAAAATACTCAGATAGTGCGGAGCACTCAGGCAGGGCTGTGGAGGCTGCGTTGTGCACACGATCCTGCGGGGTGGCTATGGAGGGGCTCGGCAGTGGGAAGGCCTGCAGAACAGATGTGCCCCAATCCTGTGGGGGAAGCCAGCCTGCTGTCTCTTGGCCTGGCAGTCAGCTGATGCTAGAGCCTCTAGGAGGGTGATGAGGACCCCTGGGGGAATGGGCACTTAGGGCCTTACTCTACTACAGCTGTCCTGCACACAAAAGCTCCTGAGCTCCACAGCAGCTGAAGCACTGTTTCTGCCTAGTCTCCAGGCAGATCCTCCACCAGCTCACACATCCATGGTGGATGCGGGGTCCGCTGAGCTAGGATTCCATAGGTCCAAGGTGAGGGTGAGATGTCCCTCAGTCTCCTCACTCATCACTTCCTCAGGAGTTGCTTGGGGCCGGGAACAGCCCCGAGCATTATGTTAAGGCACACAGGGTTCCAGCTTCCTCCCGCTTCACCCTGAGCATCAGCGTCACTTCTCCATCCACTCTCGGTAGTGTTTTCTTCCCCAAGATCTGCCCAAATTTTGTTGGATTACTTGATAATTTGGTATCTCTCAGTGGGAATGGTTCTTCCTGGCTGCATCTAGTTAGCCATCTTGTTCCAGCCCTCTCTATTTTAATGTTTAAACTCAAGTTCTACCCAAATACATACGTGTGTGTGTGTATAATACATATATTTGAATATTCACATAAAATTTTACAATACTTAAGCAAATAAGGTTAATATAATTAAAAGGTTATTAAAAGAATAAAAAGTTATTTCATAGGCTCCAAAAAAGGATTTGCTTTGGGAACCTTATCAATAGAAGTTCAAAACCTTCTCTTGAAAGTTCTATTATTAACAGAACATGGCTTCTGCAACTGCTAGTCTCAGTATCATTCAGGTTCTAGGGGAATCTGATTTAGCATAGTTTGGATCAATTATCTAATGAAGGTAATAGGGTAAGATAGAGCAGATACAGCCTTAGAGACTTAGAGATACAGGAGAAGAAATACAGAATGTTCAGCATCTTCATCTTACAGGGAGGCCAAGCAAAGCAGCTACCTATATACAGAACTTATTTTGCTCCTGGGCCATTGACAAGAGCCAAGGATGTGGGGGTCATCTTGGTACTGCGAAGCTGTAGCCTTAGTTTCCCACCAATCTTCTATTTCATGTTAGCTACAAAAGTCCAGTGCTTGTATACCAACACACAGCTCCCCAGGCTAAGTGGAGTCCCAAGGAACAGGGGTTTCATGACAAACTAGGCAGATAAAACATTCCACCCTTATCTTAACTACGTAGTTTCTAAGGAAATAGTACTATGAGAAGATAGACGCCCATGTTGTTTACCCAGATTGTCCTGATTCAACCCAGACTTCATTTTACTTTTTACTCACTCGAATATAGCAAAAAATTATCCCAAATTTATCGTAATATGATCTAATTTCTACTAGTTTGTCTTGCCTTAGTATTCCAATTTTTATGAATACTTTTGGGATGAAACGAAGATAAAATTCTTCCTAAGGTTTTTTGGTTAACACTTATTTTCTTATTTGTATTTTAACTGTCAGTCTGTTTCACTGCTTATTTACTTGAGTACTTATTTTTTAATTACCATTTTTTACTTAAAAGGGTTTCACAGTGCTTCAATCATTTTAACGTTTTATTTTTCAAATTATAAAGATGTATATGCAACTGAACTAATAGAATTTATATATTTAGAGATTTTTTTCATTCCAAGCCACATTTAAACACCCTTATTTGAAAGTAAATATTCAGATACTACAAAGTTTGATTTGACACCATGCCTGTCAATGTACTTAACAAAAAGTAGATTAGAAAACATTATTTATCATGCACAAATTCAGGGATATAAGAACTGATATTGCATCAGGTATTTGATGATTTGGGCTTTTAAGGACAGGCTAATGCCAAAGTTGTATAACCAATTTTGTACAAATATGAAGGCCAAAAATGAGTACATACATTCAAGGCAATGACCACAAGTTGTATCTATCTACTGCAAATTGTTGATTATACTTATGTACAGATGCTGTGTGTCAGTAGTTAGCAGTTTTTTTGTTTTTGTAACCTGCTGCAGTATACACACCACATGGCATTCTCAACCACATCAGCTAATACACTCTTTTCCTCAACTTTTCCACTGTTATAATTACCGTAGGGATGTTACATTAACCAAAATGTGAAAGTCAAAAGCAAGAGACTTTGGGTTTTGTTTTTGATGGTGAGGAGGGGGAGAGATAAATTTGATATGTTAGTTCGAATTGCCCATGCAATAATGTTTATTTGAGTTGCCATAAAATATCTATTTGGAAATGTCTAGTAGGAACATAGACTAAATAAACGTAGGACAGACTTCAGATGTAGATATGATAAAAAAGATTTGACAAAAAAGAAGTACATCTGTGACAGAGGAAGCTGTGAGAATTAGAGATTGATTGCTAGGAAGGATGAAACAGAAAAGAAAGATGCCTGAAGGTAGTATCCTGGGAAATATCTATGATTAACACATACTTGAAGATGGGAAAATCTTTGAAAGAATTTTAGCAAGAGTGATCTGCATTCAGAAAACAAGACAAGCAGAAGAGCTTTAAAAGAGAGTCTTCAGGTGATGGGAGGGAGTGATGCTGGTTGTTCAGGGAGTGGAAGAGGAGGGCTAAGTTATAAGGAATTGGGCATTATTCAGTATTTCAAAATCTTTTCTAGAATCATCTCTGTAGAATGTTGGAGGATAGAAATCTAATTGCAGTAGTTTGGGAGGGAAAGTGGGTGAAAAAGTGATGCAAATGAATATAGGTGATTAATTTAGGAAGTTTGACACTGACCAGAACCTCTGTCTCTGCCAATAAAAGTTAAAGGCAAAATGTAAGTAATCTAATGTGAATACAAGATTCAGGGAGAAATTGTTATTACTGATGTTAGAAGAAACTGAAGCATGTTTTTTTCTGTACTCTCTTACAGGATTCTGAGTTATTCAAGGGTAGAGCATGTATTTTTCTTCTCCTTTTCTTTTTTTTGTTGTGGGGTGGTGTGCCAGTACCTGTTTGCTGATGGTACCCTTAGTGTCCTTGGTACTTTCTATTAATGAATATTGCTTTTGTTTTAAAGATGTATTTTACATTTAAAGCAACTATAAATATTGTTTGAGTTGATTGAAAAAATATCTTAAAATATTTTTGCTATTAGCGTTTTTGGCTATAGGTATTTCAGTATTTCTTTATATCTTTTCTAGAATTACTCTTGCCACTGCTTTTGCTTATTTAAATTCTTCGTTCAATACCCAGTCCAAAGCTTATCCTCTCCTGAAGTATTTGTATTGATCCTCTGGTATTTTTTACTTTTATTTATCTCAGCTATCCAACATTATTTGCCTCTAATATAATATTAGAATAGGTTTTGGAATGTAAAGGTGAATAAAAATAGTCCCTGTTTTGAAGGAATTCAGTTTAGTGGGGAGAGAAATGTGTAGAAAAAGTCCCACTGCCACGTAAGTGGTAAAATAGAAACATGTATTCTACTAAGTTTGTATCTTGTGAATTTATATCTGAATAAATATATGTACTTTTCATTTCATTGCTGAAGAAAAACTTTTTGCATGAATTAGATCATTTGTGTTATGTTTGTACGAATTTGTGCAATCAAGACAGTTTGAGTAAATGAGAAACACTTTAAAATTAAGCTAAATTAAGTTCTTCTGAAGAAATCTTTAAAGCAGAAATTATACTTCTCTTATAACTTCAGACTTAGTAATGTTTGAAATTTTGCTTCTTTTAAATTAAAAACGTAATTGTAGTTTCTACAGCTTTTTGTTTGGTTAAAACAGACTTTTGTTTCAGAAAATGAAAACTAAACAATAAATTTTTTAAATAACTAAAGCTCTAACCTATTTTCATTAATATATATCTTTATTTACCCAGATAGGACAATATCTTCTATGTGTTATGTATATTAACTTTTGTCTCCCCAAATAAATAAAACAGTTAAAATAGCACTTAGTAAATAGTAGGTCCCTTTATGACAACGCTATTCTCTTCATCTCCTTCATGTCCCTCCTCCTCTTGTACTGAAACTGGCCGGTCACAGTACTTTTATCTTTCTAATTAAGCAGCATGTGGCACCAGCAGAGTCAGACACTGAGACAAAAACTATACATCTTTCACTGGATTTCATACATTGGAATATTAGTAGTCTTTACTTGCTGGTGATCATACTTGGAGTGGAAGAAGGAAGGCAGTTGTAGTCAATAATAAGTAAACCTCAATGATTTAGAGAGCTTGAAAGAGCATTGTTTCTACTCTTTTGACAATAGAAGCCAGACTAACTGCAAATTTATAACTTTCTTTGAACCTCTCAGAGATGAAATTGCAGGGCAAAAATATGAAATCTAAGGAGATGCAGTTGCCTAAAAAGAAGTGACACAACACAAACATTTGCTTACCTGGGGCATATGGCATACCTAGGCACTGTTAAGAATTCAGCTAGAATTCTTAATAGTTAATAAATAGTTAAAAAATAAATTCTTAATAGTTAATACATTGGTCAAGGCCAAGTGTAGGCTGCTAGCCTGTGAGGGCAACTGATATAGGTGTTCTTACCCCCTTACAGGCTTTTTCTCCATGGCTCTTACCTGATGAGAGTACTCAGGAGCTTTTTTTGTACCAGAAACCTTGGGGAGAGAAACACAGCTATTTTGTGGGGAGGGGTCCATAAAACTCTGCCCCTACCCTAAGTAAAAGGAATCTGTAGACCCCTGCTTTATATAAAAGTTATCTTCAGAGGAATTTGAAACCTGCACTGCAAAAATCACCCTCAAATCCAGCCCAACTCCTCATTTAACACAAATCCCTAAAGGCCTATCAGAAAGAAAGTTATATGCATTTGTAAGCTTTAAAACTTCCTTAGTCTTTACTGCTCTGGACAAAATGTTCAGCTTTCAAGAAAACATTACAAAGTATATGAAAATGCAAGAAAAGGTACCACTCCAAGAGACAGAACAATCCAGAGAACCAGAATAAGATAAGACACAGATGTTGGAACTACCTAACAGAAAATTTAAAATAGTTACAATTTTTATGTTAAAAGTTCTGATGAGGCCAGGCGCAGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAAGCCGGCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAGTCACAGCTACTCAGGAAGGTAAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTTCCAGCCTGGGTGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAGTTCCGATGAAAAAGCATAATATGCAAGATTAGATGTTTAATTTTAGCAGAGATATGGAAACTATAAGAATTAATAAAATGAAAGTGCTAGAAATAAAAAGCAAAGTAACAGAGATGAAGACTGTCTTCAACAAGTTTATAGACTTGATATAACCAAGGAAAGAATCAGTGAAATTGAAGATAGAGCAATAGAAGTTACCCAAACTGAAACATAAGGAGAAAAAAACTGGGAAAAAAAAAAAAAAAAAATAGAACAAAGCATCCAGGAATTGGGAGACAAAATCAAACCATCTAACCATTGTATAATTAGTACTCACAAATCCACAAAGCTTAAAGGACACCATGCTGGATAAATTTCCACCACCTCACCCTCTCTTAAAAAACAAACACACACAGGCATAAAATATTAAAACTGAAAAAGACTGAAATACTGACCCTAGCAGCGGGGTAGAGAAAGTATTGTGGGGGAAACACACACCACATACAAGAAACAAATATTAGAGCAGCTTTTTCCTCAGAAGCCATTCAAGTCAGAAGATAATGGAATCGTGGTAACTTTAAAGTGCCACATGAAAAAACTGGAAACCACAAATTCTAACTCAGCAAAATATCTTTCAAAATGAAGTCAAGTCTTTCTCGGCTGGGCACAGTGGCTCACGCCTGCTATTCCAGCACTTTGGGAGGGCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGATCCCCCTGGCCAACATGGTGAAACCCTGTTTCTACCAAAAATATAAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAATCGCAGCTGCTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGTAGGCAGAGGTTACAGTGAGCCGAGATCATGCCACTGTACTCCAGCCCGGGAGACAGAGCAAGACTCCAACTCAAAAAAAAAAAAATCTTTCTTAAATAAAACAGAATTTATTGCCAGCAGACTTTATAAGATTGTTACAGGAAGTTCTTCAAACAGAAGAGCTATAATTACATATTAACACACATTTGAATGTTTACAAGCCAAATAACTTTCTGTTTATAATTTTAATACATAGCAATTATAAAAGTATTTCCATATTTTTGAATTCAAAGTTGAATTGTTATAAAATTGTGTGTGTAAAAAAAGTAGAATTATTATGAGGTTTATGTGTTGTTTGTTTCTTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACCCACCACTTCGCCAGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCTCCCACCTCAACCTCCTTATGTGTTTTTGAAAAGGAGGCTTCTGAAAACCTTAAATGTGTCATTGAAACTCAGTTCTACTATACTGGCCTCCCCAACAGGAAAGCCTATATTCATGGGAAGAAGTGCATGCATGGTTGTGGATATGGGTGCACATGACTATTTTTTAATGGGATATGGATTTGGTGGATTTTACCAATAAGTTGTTTCTAAGGATATATTTTAATTCTAATTTATCTTATCTGTCAAAAATCCAATAAATAGAAGAAAGTTAATAGAAAATTTTATCATCATAATCATTTAAGGACCATAGAAAATTAACTTTAATGTAGAAATTTCTTTTTCTCTTTTAGTGGAAATTAGATGTTGAAAACATCTGTAATAAGTTCAACTCTAGGAGGTTTCTTTTGTTCAGTAATATCATGGTTTTATTTAGCTGTTTTATCTCTTTCTTTTAAATTCTTATTTTTCCTTTAAATGTTTGCATTTGTTAATAACGATTCAGTGATGGCACATTCTCTAGGCTAAGAACACTTGCAGCATGTTGCCTGGAAAGAAATGGTGTAAAATTTGTTATTTTTGAACAAAAGTCAGAAAAATATGGGCCAACTTTACCTTTGAAAATATCCTTACTAATTTAATGATTTGAATGAAATCGAGATACAATAAAATCTTAATTTAAAATTTTTCCATCTCTGTTAATTCCTGAGGCAAACACAATAATCTATTCTAGTCTCTTCACCAGGTAGCTGTGTGACTAGTAAAACATTGAGGATTCTACTGGTAAAGAAAAAAAGCAAGCAAGGATGGTGGGGTAAATTTAGGTATTTCTGGCACGGATAGGGTAGAACAGAATTTGGCTACAAGGAATATCTGTTGTAAATCAATTATAAATTGTAAATCAATTGTAAATTGGATAAATCAGTTTGCAAATTATAAATATCAAATGTAAAATTTGGTTTCATTCTAACAATTCCATGTAATGAAGTTTTTTTTAATTACAAAAACCATTTTTATTACCAAAAACAGTTTTAGTTGGCATTTTATTACTTTTTAAAATAAATTCAAAGTTCAGTATTGGTATCTAATATGTAACATCAATATAAATAACATATAAATACGTGTCTTAAATTTGAAGATTTTGATATACTCCAGCAATTGAACATATTAAGTACCCAAGAAATGCCCATTTAAATTTGAAAATGTTCTGGTAAGCAAATTTCTTAATAATTAAAGTAGAGAGGATTTTTGTTTCATGATAGAATTGACTGCTTGTAGAACAAAGACCACAGTAGACTACTACAGTATGATAGTTTTGCAGAATACAAAGATTGCTGTGGAGTAATCTTTCCACATGCTGCAGAGAGAAGGGTATTTTCTAGTAATCTTCTCTGCAACTTTCAGCTGTAAAATGAACCTTTTTAAACAAATAAAAAACACCAGAGAAACCAAATGTTCCTTAATTATTCACCTTGAAGAATTTGGAATAATTTCTTCAGTTTAGCAAAATACATTGCCCATGATTACCATATGTATTAGGGCTTTCATGGATTAAAATACCATCTTTGGAAAATGACTTCAAGAGGTATTTTTCAATGTCCCTTATTTTGTCATGGCATTTCTTTGATTTAGCATCCAATAATGCATTTTAAAAGCATCCATCAGCATTTTAAAATTTGTTTCTGTAGGTCAGTGTTGACATTTCCCTTTGAAAAAAAAGAAGAAATGAGGGAATGGGAGGAATAGGCAACATGCAAGTTGATAGACTGATAAACATATATTTCTAACCTCTTTAATGACTATACAGTTCCTGGTCCCTTAAGTTTTTACATAACAGAGCTGCCTGCCCTGGTTTATATGGAATGTTTCAATCAGAAGCTTCTACTAGTTTCAAAAGTAGAAATATGGAAAAGTTAGAAGCTGTTAGAAATTTTCTGATCTAGGAATGAAGGAGAAAAATAGGATGTTTGGTTGGCTTCTGGCCATGAGATTAGCAGAGAGGAGAAAAATATGCTTTTGAGAATTGTTTTTTTAAATGGGAACCTGTACAAGGAATCTCTTTAAGTCTAAGTACAGTCATATAATTTTTATATTGCTAGAATTATATGAAATACGGTTACTACATTTATTACAAACCAAACTATTCCAGATAGCTTCACTTAAATCTCTTTTAAAATTGTGATTTTATCTTTTCCCATATACAGTTCATTAGTTTTTAGTGTATATGTGGCGTTATCCTTTTAACCTGTGTTTATGATGATGATAATGATTTTTATACTTCTTGTGCTCCCTGTAATAGGTTTTATGGTAAACATTTTATGTGAATTATCTCACTTAACTCTCAGAATAAGAGAGGTTACTGTCAAACTCATTCTATACGTGAGGATATTGAGGCCCAGGGAGGTTTTTATTTTTCCCAAGATCACATCTTTAGAAAGTTACTAAACTAGAACTTAAATGTGTTACTGAATACTGGTTCATGCCTGTATGACACACTCAGAGAGCAAGGGTAAATAACTTGTGTTATGAGATTCAGTCGCTTTTCTCCATAAAGGTTTCACTTACCACATAACCTTCTTATATGGGGAAAGAAAAAAGATCTCTTGCTAGGCAAAAGTAATTGGCAAAGTATTCTTCTCTTGTTTTGTATTTTTTATGGCTACATAGTAGTTGTACATATTTATAGGGTACATATAATATTTGTTAAAAGCATACACTGTGTAATGATCAAATCAGGAGAATTGCAGTATCCATCGCCTCAAACATTTGTCACTTTTTTGCATTGAGAACATTCCAAATCTACTTCTCTAGTTATTTTGAAATATACGATAAATTATTATTAACTATAGTTTCCCTGTTGTGCCACCAAACACTAGGTCTTATTACTACTATCTAACTGTATTTTTGTACCCATTAACCAACCCCTTTTTATCCTACCCTCCCTCCCAACCCCTATACACACCCTTCCTATCCTCTGGTAACTGTTATTCTACTCTCCTACCTCCATGAGATCAACTTTTTTAGCTCCCACGTATGAATGAGAACATGCAGTATTTGTCTTTCTGTACCTGGCTTATTTCACTTAATATAATGCCTTCTAGTACTATCCATGTTGTTGCAAGTGACAAGATTTTATTCTTTGTTATGGTGAAATAATATTCCATTGTTTATGTGTACCATATTTTTTCTTTATCCATTCATCTGTTGATGGGCACTTAGGTCAATGCCATATCTTGACTATTGTGAATAGTGCTGTAATAAACACTGGAGTACAGATACCTTTCCAATATACTGATTTCCTTTCTTTTGGGTATATACCCAGCAGTGAGATTGCTGGTAATAAACACAGGAGTGCAGATACCTTTCCAATATACTGATTTCCTTTTTTTTGGATATATACCCAGATTGCTGGACTGTTGGGAACAGGCCCCCAAATCTGGCCCCAAAACTGGTCATAAACAAAATCTCTGCAGCACTGTGACATGTTCGTGATGGCCATGACGCCCACGCTGAAGGTCATGGGTTTACCAGAACGAGGGCAAGGAAAACCTGGCCCACCCAGGGCAGAAAATGGCTTAAAGGCATTCCTGAGCCACAAACAATAGCGTGAGGGATCTATGCCTTAAGGACATGTTTCTGCTGCAGATAACTAGCCAGAGCCTATCCCTTTATTTTGGCCCATCCCATTGTTCCCCTAAGAATACTTTTAGTTAATCTGAAATCTATAGAAACAATGCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCGAGGCTCTCAGCTCTGAAGGCTGTGAGACCCCCGATTTCCTACTCCACATGCCATATTTCTGTGTGTGTGTCTTTAATTCCTCTAGCACAGCTGGGTTAGGGTCTCTATGACCAAGCTGGTCTTGGCACTGGACAATATAGTATTTCTATTTTTGGTTTTTTGAGGAACATCCATACTGTTTTCCATAGTAGCTTACTAATTTACCTTCTAACTGTGTATGAATATTCTCCTTTCTCCACATCCTCCGTAGCATCCATTATTTTTTGTCTTTTTGATAAAAGCTATTTTAACTGGGGTGAGATGATTTCTCACTGTGGTTTTGATTTCTATTTCTCTGATGAGTAGTGATGTTGAGGATTGTTTTCTATACCCGTTGGTCATTTGCATGTCTTCTTTTGAGAAATGTCTGTTAAGATCTTTTGCCTGTTTTTTAATCCAATTATTTGTTACTTTGCTATTGAATTGTTTGAATTGCTTATATATTCTTGTCATTAATCTCTTGTCAGTTGAATAGTGTGCATATATTTTCTCCTGTTCTTCAGATTGTCTCTTTGTTGATTGTTTTCTTTGCTGTGCAGAAGCTTTTTAGCTTGACATGATCCCATTTGTCCATTTTTGCTTTGGTTTCTTGTGCTTTTGAAGTCTTATTCAAGAAATCTTTGTCCAGATTAGTGTCCTGAAGCATTTCCCCAATGTTTTCTTCTAGTAGTTTCACAGTTTCAGGTATTATATTTAAGTCTTTAATCCATTTTGATTTTTGTATATGTTGAGAGACAGCTGTCTAGTTTAATTCTTCTGCATAAGGTTATCCAGTTTTCCCAGCACCATTTGTAGACGACACTGTTCTTTCCTCAATGTTTGTTCTTGGCACTTATTGAAGCTGAGTTGGTTGTAAATGTGTGGATTTATAGTCGGGTTCCTTGTTCTCTTTCATTGCTCTATGTGTCTGTTTTTATGCCCCTACCATGGTATTTTGGTTACTATAGGTTTCTAGTATACTTTGGAGTCAGGAAGTATGATTTGCTCTAGTTTTGTTCTTTTTGCTCATGATTGCTTTAGGTATTCTGGATCTTTTGTGGTTCCATATAAATGTTAGGAGTTTTTTTTCTATTTCTGTGAAGAATGTCATTGATATTTTGGTAGGGATTGCACTGAATGTGGGTGATGTGGTCATTTTTACAATAATTAATTCTTTCAAGCCATGAACATAGGATATCTTTCCATGTTTTTGTGTACTCTTCAATTTCTCTGTGTATGTTCATATAGCCTCTTTTCAAGCTCACCAATTCTTCTTCTGCCTGATCAGTTCTGCTGTTGAGACACTGATGTATTTTTCAGTTTGTCAATTGAATTTTTTAGCCAGGAATTCTGTTTCATTTATTTTAAAAATTATATGAATCTCTTTCTTAAAGTTGTCTGATAGAATTCCTTCTCTGTGTTATCTTGAAGTTTGTTGAGCTTCATGAAGACAGCTGTTTTGAATTTCCTGTCTGAGGTCACATGTCTTCATCACTCCAGGATTGGTCACTGGTGCCCTATTTAGTCTGTTTGGTGAGGTCATGTTTTCCTAGTTGTTCTTGATGCTTATGGACATTCATCATTGTCTGGGCATTTAAGTGTTAGATATTTATTTCTGTCTTTGTGTTATGGCCTTGTTTGTACCTGTCCTTCTTGAGTGGACTTTGAAGACTTCAAATATAATTGAGTGTTGTTACCATAGCTGTAGCTACTACAGCCATTTTAGCATTACCAGGTGCCCTAACCCAGGTATGCTGTGACCCCTACAGACCCTTAGATATATAGCCTTGGTGGAGTTGGGCAAGGTAAGACAGAATTCCCTGAGTTCCCAGGCAGAGTCTCTTGCTCTTCCCACTCTTTCCCCCAAGTGGAAGGGGTCTTTATGCTTGGCTGCCTTGAGTTGGGGGAGGGGTGATACCTGCAGTCCTGTGGTCGGCACAGTTGACTGCATTAGAACACCATGAAAGCCTGAGGCCTTCCAGATCAGTGCAGCTTCCACCGGGGGTCACCCAAGGCCCATGGCCACCACCATGTGGCTGCTGCTGATGTTTATTCAAGGCTGGAGGCCACATATCAAGTGGTGAGTTCTGCTGGGAGTCAGTTTATCCCACCAGGGTTGTAGATTCCCTTCTGGCCCTGGGTGGGTCAAGAAACACCATTCAAGAGCAAAGACCTGCAACTGAAGGCTTTAGGATTCTCCTTGTTTTTTGGGTTTTTGGATTTTACTGTGGCTGAGCTTGTATTCATTTGCAAGACAAAGTCTTACGTATTTTTTCCTCTCTTTCCCACAAGTGGAAGGAGTCTCTGCACTGCGTTGCCTGGAGTTGGGGGAGAGGCGATGCATGTACTCTTGTCATCGCTGAAGCCAGTGTCGTGCTGGATTGCATTCCAAGCCCAGTCTCTGATGCCAGTGCAGCACTGGGGCTTGCCCAAGTACTATAGTTGCTGTGGCCCAACTGCCACTCAAATTTATTAGAGGCCCAGGCCACTTTATTCCATAGTTGCTGAAGTAGGCTGAGACTTGGCTTTCTCCTCCTGGCGATGGATGCTTTCCCTCTGCCCCAGGGATGGTCTGTTTGCCCCCTCTGTGAGCACTGGCAGAATTCTGTCCAGTGTTGTGTTCCACTGTGATAGGGCAGCACTGAGTTCCAATGCAGTATCCCACACTCACTTCACTCTTGCTCTTCCAAACACATAGATTCTCAGTGCTATGACGCCTGGGTTTGGGGGAGGAATGTTGTAGGTAATGCAAGGTTACCTAGCTTATCCTTCCTACCCTTTTAAATGCCTCTCCCTTTGTTATTATGTTAAAGTTAGATACTGTGATTGCACACCTGATTTTTTTGTTTTTAAAATAGTGTTTTCTTGTGTTGATAGTTGTTTAATTTGGTGTTCCTGCATGGGGGATGATTGCTGGAGGGTTCTATTTGGTCATCTTGCTTTGCCCTTGTCTAAAGTCAAATCTTAATTACAAACATGTATTTTTTTTTCTTTGCATTCTACAGATAGGGAAGCCTGAATGATAGATAAATATATTAATAAAAGATTTGCAAAATTACGAAAATGTGACATTTTGACATTGAGAAAATCTTGACATTAAAATCAATATTTTAGTTACGTCATCTGCCTATGAAGCCTTATCTTTAGCTTCTATCCTCAGTAATTCTTCACAGCAGTAAACTTTCTTTATTGCTAGACTAAACTATTTATGTGCAAGTAAAATATTGGGTAAAAATAATTAGGTAATTTGGTATTTAATGAAGTTGTTCATTTCTTCAGTATTATTCAAAGGCCTGTCACATTTTATGGTAAATATTGATTAAAAGACTAAGTAGAATTTGTGTTTGTTGCTCATCTTAATACCTTGGTACCTGGATATCTGAAACTCATGGTAGTATATTAAACTCTTGGATTGTGAGGCCGTGTTTTAGTACACCTTTCGTAACTATTGTCTGGCCAGCAGTTTCAAAATGTAATAGCTGCACTGGCCATTGATGCTGGTGGAGGTGAGGTAGTTGCTAGAACAGTTGATTCACTCTGCCAAGAACAAACAAATAATGGCATAAAAAAACAAATTATAGTTGTAAAGAAGTGAATATGACCATATGAATGGTTAAGAAAGCTTATAATAGTTACAAAGGTTAGAGATTTAAAACTCCAAGCAGAATTTGGGCATTAAGTATATAAAATCAATGAGGAACACAAAGCTGTAACATGATTGGTGGAACCTTTTTTTAAAGCCAGAGTGATACAGGCAAAGAAGTGACAAGGCTGTGTACTTGATTATTTTGAAAGCTGCTGTGTCCCATAACTATGCTGTTAAATTTAACTGTAGCACCCAGCTGCTATCTGTATACTTCACTTCTTTATGGAATCGATTCATTCAAAATCTTGGCAGGAGATCCATAAGTGCTAAACTATTCAAATAATTCTCTTGCTTTCTATTTCTCTTTCCTAGAATTTGTTTCCATAAGATTGTAAAAGCAAAACTCAGATCACTTAACAGCTTTTTTCTTTTCTTCCCCCCCTTTTAAAATTTAACAGTTATTAAATCCTCAGTTGCAGATTGAGATTATTTAAAGTAATCCTTAAACTGTCATAATTGCCTTTCCAGTTAAATTAAAATCTGGACAATTTCTCTAAGTGTGGGTGGTTGGCCACTTAGTATTATCTGGGAAGTTAGTTTACAAGGTAGATTCCTAAGTTCTATCCCAGGTCTGTAAAATTAGACTATCTCAAAGTGGGGCTCTGGAATCTATATTTTTTTACAAACTTTTGGGGCAATTCTTAGGCACCCTTAATTTTTGGAGTATCTGTACTTAGAAGAAACTGTAAAGAATTGCTAATTTTGGTATCCTAAATGTCATCAAATCTGTATATCTGATTCTTTTCTAAAATCTGGCCCAAATAGAGTCACATTTCTCATTTGACTATAGGTTCAGAATTTAACAAACTTAGTAAAGTACTCCTGGAACGAACTTTAGAAATAATTGATTCCAAACTTAGATACTGAGTTCCTAATGTTGTGCACTTGTAAACAATAAGCTCTGCAGTATAACCAAGGTTTCTTCAATTATTTCAGTTCTCTCCATTGTAGGCTATTTCCAGAAATTCAGTTCTTTGAAACATTTTTATTTCAACCTGGGCAACATAGTGAGACCCCTTCTCTACAAAAAATTAAAAAACTAGCTGTGTGTGGTGGCATGTGCCTATAGTCTCAGATGCTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTCAAGGCTAAAGTGATCCGTGATCATGCTGAGAGGTGAAGCCAGCTGGACTTCCTGGGTTGAGTGGGGACTTGGAAAACTTTTCTGTCTTACAAGAGGTTTGTAAAATGCATCAATCAGTGCTGTGTAAAAAGGGTACCAATTGGCACTCTGTAGCTAGCTAGAGATTGGTAAAATGCACCAATCAGCACCCTGTAAAATGGACCAATCAGCACCCTGTAAAATGGACCAATCAGCACCCTATAAAATGGACCAATCAGCACTCTGTAAAATGGACCAATCAGCAGGACATGGGCGGGGACAAATAAGGGAATAAAAGCTGGCCACCCCAGCCAGCTGCAGCAAGCTGCTCCAGTCCCCTTCCACAACGTGGAACCTTTGTTCTTTCACTCTTCGCAATAAATCTTGCTGCAGCTCACTCTTTGAGTCTGTGCCACCTTTTTTTTTTTTGAGATGGGGGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGCCACTGCACCTGGCTGGGTCTGTGCCACCTTTAAGAGCTGTAACACTGCAAAGTTCCACAGCTTCATTCTTGAAGTCAGAGAGACCAGGAACCCACTGGAAGGAACCAACTCCAGACATATCTTGGGGGCTTGTCTGGGATATTGCCAAGTGGTGAGTACTATGGGACCCCTTTTGCTTGCTATTCTGTCCTATTTTTCCTTAGAATTTGGGGGCTAAACACTGGGCACCCATTGGCCAGTTAAAAGTGACTAGCACGGCCACTGGACTAAAGACATGGGTATCAGGCTTTCTGGGAAAAGGCTAACAACCCCTGACTCTTTGGAGTTGGGAGCATTGGTTTGCCTGGAATTAGCTTCTGCTTTTGCTGTTCTTCCGGGCTGAGCCGAGGGTTGACAGGGAGGAAAGCCATTCAGCTCTGAGGTCCCGACAAAAGTTTCGTTGACCCTGCAGCCATGAGCAGAGCTCTCAAAGTTAAGTCGCCCAAGCGCAACTCGACCATCTATCCTGTATATCCTGACCCTTGCCTCATGGGTCCTAACGCCTGTCAGACAAACTTCCTCCCACCTCTCTTCTCCAAGGCTAGTCTCGCTTCTAAAAACCACTCCCTGTCTCTGGTGCTTTTCTAGTTTCTCCTATAAGAATGATTTCTAGTATAAATTTCAGGACTCTGTTCCTTTAGGCACCCAGGCCCACCAATCAGAAAGACATAATTTTTGCCCAAAGCCCCATCGGGGGTGGGGAGACTATCTGGAATTTTAGGATCCCCCCTCAGGCAAGCAGGCCTAACAAAAGCTATTCCTGAAGCTAGGATGTGGGGAGCCTCAGAAATTATATCCTTCCTATTCATATGACGAGAAGTGAGGACAAAAGGCGTCACTCTTCCAAAACCACCTCTGGACACAATGCCACTGCATTCCTGTCTGGGCAACAGAACAAGACCTTGTCAATCAATAAAATAAAATAAAATAAAACTTTGTTTTCCTCAAATGAGTGTTTTGAACTTAGGACTTTCTGGAATTTGGTAACTGCCAGTTTTGTGCTTCCATTTAGACAAACAAATCTCCCCAAAAAGTGCTTTTCCTATATTGAGTTTGTGATTTGGTTTCATGGCTATAAGAGAAGTGTCATATTATTGCATATCTTATTTAAGACTATACACTTCAACAATTTCTACCTGTGATTTATGGAATTAATAAATTCAGGGAAATGATAAAGTACAGTTCTTAGAACAGTCTTCAGCAAAACTACTCCATCACTTTTAGGAGTCAGTGAATCTCTAGAGCAATTTGAGATAAACACTGTGAAACTTTGGTGCAGACCCTTTTGACTTTGGTGCATCTTGTCAGTACCCTATGTGACTCAGAAAAATGTTTTAAGAGTCATTTGAATCAACATTTACATAAACACGAAATCTTTCTGTAGAGATTTTAGATAGAGGCAAATAAGACTGAGTCTCTGGGCTGACTTCCTCATAGTCTTAAACCAGTGCAACTCTATCCATGAAACAAAATATTCTAATAATAGGATAGACATTTTCGTATTGTATAGACAGTAACAGAAATAGTCGTTTTTCCTCCAGTCACTCCCCATCTAATTCGGAATAAATGCATTCATTACAAAGACTTATGAGATCCTCCAGGCTCAGGCCTTCTGCTCCCTCATTGCCTTTGTCTTCTGATCTTCCTCTTGCTCACTTTGTTGCAGCCACACCTGCTACACTTCCCTTGAGCTTCTGCCTTGGAGCCTTCATACCTTCTGTTCCTTTTGTCTGGAACATTCATACCCTAGGTATCTGAATGGCTTAGTCTATTACTCCCTTCTGGTCTCTGAATGTTACCTTACCAAACAGACTGTTTTTGAGCATTTGTATAATATAGCAACCTCCCCCAACACTTAGTTCCACTTATTCTCCTTAACCTGCTTTGTTTTTGTAAGACTTCTTAGTATATTTATGTGTATTCTTCTGATTTTGAATTTTTACTATCATTTCAAAATATAACACTTAATATATACAAAAGAATATATGTAACTTTAATATATTAATGAGTAATTAAAACATTACAAGTGTGAGGATATAATGAAACCCATGAACCAATAACTTAACCCAAGAATTAAGATATTACCATAACTTGCATCGACTTATGTGATTTTCTTCTATCCAGTCTCCCTCCCGTTCTGCTGAAGTCCCCACCATTCTGTTTTGTTTAAAACTCTTTTTGTGGTTTTACATATTTTTTAGTAGTTCTATTACGTGCATGCATTCTTTCAATCTCTCACACATGCATTTGTGCCCAAAAACATATTGTTTTGCTTATTTTTCGAACATTATAAAGCAGTGTTGCAAGGGATGTCCTAGGATTTGCTTTTTTCCTTCAGCTTTGTCTGAGATTCATTATTGTGGTTGGTTTGGCTGTTGTTTCATTCTTTATTGTTATTGTACAATATTTCATTATGTAAATATAACACAATTTGTGTATCCATTCTCCTATTGATGGACATTTGGGTTACTCCAGTTTTTTTTTTGGCTATTGAAACAGTGCCACTAGGAACGTTTGTGGCTATGTCTCCCTACTGCATAAGCTCAAGAGTTTCTCTAGAGTATATGCTTAGGAATAGAATTGTTATGTCAAATTGTTTTTAGTGGTTGTACTAATTCACTATTGTGCGAACAGTATGTAATATCTGCATCCTTTTAATCCTACTAGTACTTGGTATTTTGGGATGCCTTTATTGTTGCCAGTCTGGTGGGTTAAAGTGGTACTTCATTGTGATCTTGATTCACATTTTTTATTGCTGTGGAGACAGTATGCATCTTTCCATGTGTTCTTCAGCCACTCCTGCTTTTTCTATTGGAAAAACAGCAATAAGGCTGATGTGGCTGAAGCACAGTGAGGGAGAAGGGGAGTGGTGGGACATGAGGATGGGAGGTAGCTGGGGTGGAGGTGGACTAGGTCATAAGTCTTGTGAGCCATGAAAGTAAATAGATTACTCTGGCAGAGTATGTTTTCTAGAAAATAGACTACTGGGGAGTAAGACTTAAAGCAAAGAGAGATGTTAGAAAACAGTTGCAGTAGCTAATGCTGTTGCTCAAAATGGTAGCAGGTTTGGGGAGGCAATTGTTATTAATAAAATTTCTGATTAGCTTTAGTTCTGTAAAAGTTATATATGTTTTTGTATAAGAGCTACGTATTTCTATGTGCTAGCTACATATTCACTTATTTTCTTCTAAACATACTTTGAAGTTCCAGAATTGTATTATTTTTTCATAGTTTCAATAGCAATTTCATGGCAAAATTTTAAAAACCTGTTAGATTTATTCTTAAAATGTAATGATGACTTTTCTATTGCCAAAGATTTGAAGATTAATTGCTAGTGTAATAATTTTAGCATAATTGCATCGAATGGCTTTTATGAACCCAGCAGCTGTGGTTACTCATATTCAGCAGCTGTGGTTATCCTGACTCAAATGGTTTTTCATCAGTTATTAGAAAAGTCACAAGTTCTTGGTAAATTCATTTCTGAAATCGGAAAGCTTAAGTTTCCATTTTTTCTCAGATATACTCTATTTGAATATATTATCCCATATTTCAAGAGCATATTTTTAGCCACAACTTAGCCAATGGCAACATCAGCAAAAAGAGATAATGTATTTGTACTTTTATACACAGTGTAATAACTTCTGATTTCTAATTGTAGGCAAATCTGAATTTGAATACTTTTCATATTTTGAGTTCTAAGACCGTTAGACAAAAGCAAGTTGACTGAAGGATATCACCAGTCTGTTTCATTTTGTAATGTACATAATGATGTTATATTTTTCCTTTTTAATATTTATGTAGAAATAATGTATTTACTAATATCATAGACTTGATTTTCAAACTTTTATTAGGTTATTATTTAGTAAGATATGAAAGTGTCTTTTTGAAAATGCAGTTAAAGGGAAAGAACTATGTACTTATCTTTCCTTTGTGAATTATATTTCAAGATAACAAAAGAAAAGTTGATACAACTCTTCCTTATTGAATAATTCTAGATAATAAATATGGCAGGAATGATGGAATTTGAAAAATCATTATTTCACAAACTCTAATAAAATAATTGGTTCAGACAATTATTATCAAAGGTTGAATCCATTAGATGGAAGGTTGATGGGGGTGTTTGCAAGAGAAGGATAAGCTGTCACCACCTGTACCCTGTGATCAATCTTTGCATCACAAAGAGGAGGCATTCAGACACTATGTGCCTCCTAATGTGATGAAATATGAAGAACAATTTCCAAAAGTATTCTTTCAAAAAGAGTAAACCTGAACCTAATCAAGTTTTAGAACTAATTTACCATTAACAGGAAACACAGGTATAAAAGAACAAGTTAAATGACAACACTGGAACCAGAATGTGGGACAGTTTGCAAGATAACGAACTCAGTTTAATCAATAGGTTAATGGCAGGCAAAAGAGGCAAGCGAGAAGGGCTTCTCTATATTAATAAGACTTATAATACATAACAATTTATGACCTTTCTGTGAATCCTGATTTAAATAATTCAATTAAAACAAATTTTGAGACTGTCAGAGAAATTTAAATATGGACTGGGTATTATGTGATGCCAATTAATTTTTGTTTCTTGGGAGAAGTAATGGCATTATAGTAGTTATATCATTTTTTTTTTCTTTAGAGATACATACTGAGTATGTAGGAATTAAATAACACGTGGTCTGGGATTTGTTTTAAAACGCTTAAGGAATAAAAACAAGAGGGAGATGAATGAAGCAAGTGCTGGAAAGTGTTGACAGTTGTTGAATCTACATTGTGGGTATCTTTGGGTTTCTTTGAAAATGTTCATAATAAAAATCAGTTTTTGTGTATCTTTGAAAATGTTCATAGTAAAATTAATATTTAAAAGTTTTTAAAATGTCGTGGATATTTACATGTATGTTCTTGACCTTGTCACCCACCTTTTAGTACTTTCTTTTACACAGCTATTAGCACTTTTCTCCAAAAAAGTCTTGCGGGGGAGGCAGCATCCCCTATTACTGCAGTGTTGAAAATGGCAACCACTTTTCAAGTCCCCCTCACAGTTAGAGAACAGTCATGCCAGGCACCAACCCCAGTTTCTGGATAGGGAACTAGTGAATCAAAGAGGCAGTTTCTTTGCTCTCTTGAAAGGCAGTGGCAAACTAACCTACACTGAGAAAAAGGAAGTCGGTGATTGCCTAGTGATAGGGGAGGAAAGATTAGACGGGGGAGGGATTGCGAAGTACTAAGAGGTAATTTTCGAGGTGATGAAAAATGTTTATTATTTAACACTAATTAGCAAATTCTAATTCCTGGTAACATCCAGAGCTGAAGGCAAAGGTGATAGAAAAGCCATAGCTTCTGTGTTCAGTGGCACTATCAGGTTTTCCTTTCCTTTTTCCACCAGAATAACCAGTGTTTAACTGACCCTAGCCCAATTTTTGACTTTCCTGATAATTCTGTAAACTACCTAACATTGTTTTAGTAATTATCTTTTTTTACTTTTTACAGCTTTATTGGGGTTAATTAGCATTCAGTAAACAGCACATATTTAGTGTGTATATTTTGGTAATTTTTGAAATATGCATATACTTTTGAGGCTATCGCCACAACAAGATAGTGAACATCCCCATTACCCCCAAAAGTTTTCTCTCAGCACTCCCTCCTCTTTCTTCTGCCCTATTCCCAGGCAACCACTGATTTCTTTTTTATCAGTATGGATTAGTTTGCATTGTCTAGAGTTTTATATAAAAGGACAATACAGTTAAGTGTTCGGTTTTCTTTATGGCTTCTTTCTCACTCAGTGTAATTATCATAAGATTCATCTGTGTTATGTATATTAGGAGCTTTTCCTTTTTATTGCTAAATAGTATTCCATTTTATGAATATACCACAATTTGTTTATCCATTTAGTCATTGAAGATATTAGTTTGTTTCCATTTTGGGGCTCTGATATGGTTTGGCTGTGCCCTCACCCAAATCTCATCTTGAATTCTAGTTCCCATATCCCCCATGTGTCAAGGGAGGGACCTCATGGGAGGTGATTAGATTATGGGAGGCAGTTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACGAGATCTGATGGTTTTATAAGGGGCTTTCCCCCACATTGCTCTGCACTTCTCTCTCCTACTCCATGTGAAGAAGGACATGTTTGCTTCCCCTTCCACCATGATTGTAAGTTTCCTGAGGCCTCCTCAGTCATGCAGAACTGTGAGTCAGTTAAATCTCTTTCGTTTATAAATTACCCAGTCTCGGGTATTTCTTTATAGCAGCGTGAGAATGGATTAATGCAGGCTTCTACATTAAGCTGCTGTGAATATTTAAACATTGATTTTATATCTTCATATGAACATATTCTTTTATTTCCCTTGACCAAATACCTAGTAGTGGAATGGCTAGATTATATGACAGGCATATGTTTAATCTTTTAATTAACTGCAAAACTGTTTTCAAATGTGATATATAATAGATATTATTTTAAAAAATAAATAGATGAATGTATTAGGAAAGATGAGGTCTTACATGTATTTCGTTGTGTATATACATGATATAGTGCATTTATATGTTCCGTGTGTCTTATTTGTATTTTGATAAATAACAAAAGTATATTTTTACTATCAGTAGGTAGGATTGTTAGAGCCACTAATTATTCAGGGTGCGACAAAGTATCATCTCAAGGCAGATACAGCATTTCATATAGTAATTAATACCAGATCTTATTTAGTATTAACCAGTTATGCACAAAATATGAATATATGTGATTTATAATGAAGTGTCAGCCTAGTACTGCAAATAATATAGCTCAGTATTTGAAAACTGATAGATTCACTGTGTGAGTATGAATTTATAATAAATACACTTCGGTGACAGGTTCATTCTCAATTTGCTTATGTTAAAATTGCACTAACTAGCAGATCCTCTGAGATTTATTTCCAGGCTTTTAATGTCATATTACCTTGAAAAATGATGATGTGAGTTCTTAACATGGTAGGGGTGCCTGTACATTTCACTTTTGATCTTGAGTGAAATCTCATCTCACAAATCACCAACATAAATTACAATTTGGTCTTGTGTGTGACTGGCATAAATATATTTTAGAGACATGAGAAATACAAAGAAAAGTTTTCCCGCCTCCCCCTTTATCCTGCATATGTTAACATTAGAAAGATAAACCACTGCATATTCTCCTGTCTCATTTTAACATGTTGGTATGTAGTTTTGGGGGGATATGGATTCTTATGTATGCAGGGAAATTTTATATGGTTTGATACATCTTGATGTGTTTGGTGACACAGTTGAACATCATCATTGTACATGGCCAAGCATGCACAGGGAGCATGAAACTATTAAGGGGTGATGAGAATATTGCCTAAGTATATTTTTGAGGCCCCCAAATCATTAAAATAGAATATTTGGGCTGAAGTTAAAAATATAATATTGTTTAATGAATTTCTATTCATTTCAAAAACAGAAGATACATATTGTAAATATAAAAAGTATTATAAATTGTTTTTTTCTGCAAATTGTAATATCTGAGAAAACTGATGATTTAGTATTTTTCCTTTATAATTCTTAGACATTTAATTGTCTTTATTTGTCTTCTTGGGATAGGTAGATCCATATGTGCAGTGTTGAATAAACATAGAGCTAGTTGGCATCCTTACCTTGCTATGAGTTTAAAGGGAATGGTTTTTAACATTTTATTATTATGATATTTGCTTCATTTTATAGATACCATTTATCAGGTTGTATTAGTTGGCTTGGCCTGCTATAACAAAATACCACAAATTGAGTGGCTTAAACAACAGAAATTTATTTTCTCACAGTTTTGGGGGCTAGAAGTCTGAAATCAGGGTACAGCATACTCAATTTCTGGTGAGGCTGCTCTTCCAGGCTTGTAGACAGCTGCCTTCTTTCTGGGTCCTCACATGTCCTTTCCTTTGTACATGTGCACAGAGAGTGAATGAGTGAGGTCTCCAGTGTCTCTTCTTCCAGGGACTCAAATCCTATCAGATCAGGCCCCGAACCCCTATGACCTCATTTACCCTTAATTACCTCCTTGGAGGCCACTTCTCCAAACACAGCCATAATGGGAGTTAGGGCCTCAACAGATGGATTTTAGTCCATAAATTAAGTCCATATTTATGGACATTTAGTCCATAAATTAAAGAAGTTTTCTAATATTCCCAGTGCTTCCCTTAGTCTTCACTTTACAGCAAACTATCCCAAAACTTAGTGACTTGAAGTAATAATGTTTTCTGCTTTTTAAATGATTCTGTGGGTTGGCTGGATTATTCCTTTTTAGTTTCACTTAAGCTTACATGTAAGGTTGCCTTTATTTGGAGAGTTGACTGGGCTGGAAGGTTCAAAATGTCCTTACTCATGTTTGTAGACGGTGCTGGCTATTAGCTAGGGTGACTTGATTCTTGATGTGGCCTTTTGTCTACCAGATGCTAGCATGGTATATCAGGGTTAAGTCCGGAAAGTAAACTGCATGTCCTTTTGAAGTCTAGGCTTTGTAAATTACATATTGTTTTTGCCGTATTCTGTTAGTCAAAGCAAATCCAGTCCAGATTCAAGATGGTGGGGAAGTAGATATCTCTTGATATGGGAGGAGAAGAACATTACATTGCAAAGGATGTGATTGCAGGAACGCATCATTTATCGAAGGCTATTATTATAACAATCTCCCAAATCTTTGCTAAGTTTGCTAGGGGTAATTTGTTAAGAATTTATTGATGAATTTTATTGTCCGTGTTTCCTCTAAATATTGAGAAGATTATATATTTTTTCTCCTTAATTTATGTGATGAAATATAGTTTCTATGGTTGAACCATATATTCAGTGTCATCCTGTATATCTTTTTAAAAATGTTTGATGTTTATTTCTTGAATCTGTGTTCAGGAGTAAGACTGGTCTTTGAATTTACATTTTCTTTGGTATTAAATTTTTACTAGCCTTTGTAACATTATTTGGAAAATGTTGCCTCATTTTTCTAGTCTCTGAAAAAATTATTTGTTTTAAAGAATGCTAATAGAACTTAACATGTAAACTGTTGGTGCCTGAGATTTACTTTGAGATAGTATTTTTAACTTCTAATTTAATTTTTTGACCAACTATAGCCCCACTTAGAAAAACTCCACCATTCTTGAGATTGTTTTATTAATTTACATATTCCTAAGAATTTCTCTATTAGCCAAATTTGCAACTTTGTATGGTATAAAGTTTAAAATAATCTCATGGCATCTTTTAGTATTTTCTGTATCTGTAATTTCCTTTAAAAGTAGAATTTTAAAATAAAATTTTTCCATTTTTAATTTTACCATTAGCTATCTACCATTTAATCTGGTAAGAAATCTCTTAATTTTATTAGTCTTTTCAGTGAACCAACTTTTGGCTTTTTAAAAACTCTGATCTCTTTTGTATCTGTTTTCTATTTAAATTTTGTTTCCCCTTATTGTTATATATAGCTTTCATCTATATTCTTAACTGTGTAATTTATAAGTTTTACTCAATTTTTAGCATTGCTTCTTTTTAACATAAGATTTGCTACTATAATATTCCTCCAGAATCTCATTAACTGCCCATTCACTATTCTATAAATTTTGATATATGGGTTTTTCATGAACACAGTATTTTAAATTTTTATTAAAATTACTTACTTGACCTTGAGTTATTTAGAAATGTGTTTTCATATTTCCAAGTGTAGGGGGTTAATTTTGGTAACATTTTACCAATTTCTAACAATTACATTGTTGTCAGATATGATCTGTGTGATATCAACTCTTAAATTTGCTAAGACTAGCTTTATGGCCTAATACGTGGCTGATGTTCTTAAATGTTCTCTGTGTGCTTGAAAGAATGTTCTTGCTTTTACACTGTTGGTGAAAATGTAAATTAGTTTGACCCTTGTGGAAGACAGTGTGGCGATTCCTCAAAGATCTAGAACCAGAAATACCATTCGACCTAGCAATCCCATAACTGGGTATATACCCAAAGGATAATAAATCATTCCATTATAAAGATACATGCATGCATATATTTACTGTAGCACTATTCACAATAGCAGAGACATGGAATCAACCCAATGCCCATCAATGATAGACTGGGTAAAGATAATGTTGTACATGTACACCATGGAATACTATACAGCCATAAAAAGAAATGAGATCATGTCCTTTGCAGGGACATGAATGAAACTAGAAGTCATCATCCTCAGCAAACTAACACAGGAACAGAGAACCAAATACCATATGTTCTCCTTCATAAGTGGGAGTTGATCAATGAGAACACATGGACACAGGGAGAGGAACAACACACACAGGGCCTGTCAGGACTTGGGGGAAGGAGAGCATCAGGATAAATGGCTAATGCATCTGGGCTTTATACCTAGGTAATGCGTTGATAGGTGCAGCAAACCACCATGGCACACATTTTCCTATGTAACAAACCTGCATGTTCTGCACATGTATCCCGAAACTTAAATTTTTTTTACAAAAAATGATTGTCTGTTCTCCAGATATTGGATGTATTATATGTCCCTTAGGTCATGCTTGTTGATTGTGTTCAAATTTTCTATATGTGTTCTGTATGTGATCTACCAATTGCTGAGAAACCCACATTAACTGTCCTACATAATACTAGATTTCTATTTCTCTGTATCTTCTGGTAATTTTATTATCTACAACATCTGTGTTTTTAAGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCCATTACTTTTAATGACAAAGTATCTATATATCTATATATAAAGATACTTAGAATTATGTCAATAGATAGTGATGCTTTTTTCCCTGTAATACTTTTTGCTTTAAATTTTGTTGAGGTTTACTAAAAAAGGGTTACCTTTTTCATTCTATTACCTTTTAACTTTGAATGTCCTTATGTTTTAGGTGCCCACTTTTAAATATATATACATATGTTTAACTATTAACATATAAACATATTTTTAGCTGTTGTTTTTAAGTAATGTTTAAGCAGTTGTTTTAAAGTAATCAATTACTGAAATTATTGATTTATTTGGATTCATTAATATCATTTTTTAAAAATCTCTTTGGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGGGATCAAGACCATCCTGGCCAACATGAGGAAACTCTGTTCCTATTAAAAATACAAAAATTACCTGGGCATGGTGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCGATGAGCTGAGATCGCGCCACCGTACTCCAGCCTGGGTGACAGAGCCAGGCTCTGTCTCAAAACAAAAAAAAAAAAAAAAAAAAATCTCCTGTTTAGCCTGCTGTTTGGCCTGCTGTTTTTTGTGACCAAGGGCCTTCTACTCTACCCTTGTTTGCATTCTTTTAGATTCATTTTTCCCCTTTTTAAAAAAATTCTGGGTTTTTTTCTGTTTTGGAAAATTTATTCTATACTTATTTTTTCCCTCAATGGTTATACTAAATTTTAATGTGCCATCCTTCCATACAATACGGTGATTTAGAATGCTGTAACTCTGGTCACTTTATCCCAACTTAAATATGATTGTTTTTTAGTGTTTTATTTCTGTTGTATATTGGGATCATACTTCAATAGATTTATAAATTTCTTAAACATTTTCTTTGCTTACCATTCCTTTTTACTTATTAGACTTTTTTTTGGATGATTTTCTTCTAGCTAATGTCCATGGTTTAAATAGTGAGGCTCTATTGATAGTGCACTCTCAGTTTTGTCTCAAAAAAACTCATATTTTATATTTTCTCAAAAAATAATTTTGCTAAATTTATAACAATGCTAGGTTGACAGTCTTTTTGTCAACATGTTTTGCCTTCCATTGTTGCAGTTGGGAAGTGTTTGTTTGGAATAATCTATTATTTCTAGCTTCTTGTAAGATCTTTTTTTTTTTTTTTCCTCAATGTTCTCCAATTACATTGTGCAGTACCAGATGATTTCATTTATTCTGGTTGGGATTCTTTGACTTTTCTGAATATGAGAAGTATTGTCTTTCATCAGTTCTGGAAAATTCACAGAAGGTTTCTTTTTAAAAATTGCCTCTGTCTCCTTTTATTAGCTCTTCATATAGTAATAACTCTGAATAGGCATATATTAAGAGTTTTAATTTTCTTCTCCATGTTTTAAAACTCTTATTTATTATTTTATGTCTTTGTATTTTTTCTCTTTTGGCTTTAGCATTTAAGATTTTCCTTATTTTCCTTGACAATTCTGTCATAAATTTTAAGTCATTAGTTGATGATGTTCTTGCTTATTCATAATTTTGAAATGTGCTTTATCATAAAATTTTCTCCAGAAATCTAGTCTGCCATATTCCCTGTAACAAAAATGTAAATTATTTAATTTCTTTGACATCTATAAAATGAGAATGAGTGTTTATATTCCTTCTTATTCCAAAAAAGAATTACTGGCAGTGACTAACAAAAATGTAAATAATCTACTAGGATAAAATCAGTAGTTGAGGAAATTAGTGTAAGAGAAAATTAGGATGGGAAAATAAAATAAAACTAAGGAAACAGTTTATGCCAAATAGGACAAAACAAAAAAGCTTGTACTTTCTGTTCCTATAGAGTTGGTATTGTTTGATCAGAAATCATTTGGGGTGCTTCATGATATCCAAAGGAAAATACAATTATGTATAAGATTTAGTGTCTTACAATAAAACATACCAATTGCTCAGGAAACATAGGTGTTCCTGAAATGTCTCTCACTGGTCTTTGAAATAAGAACAGGTGAAGTAGGAGTGGGTTTCCTACAATTTCTTCATTTTAAAAGTTTGTTTTCTAAATTATTTTTTATTTTTTAGAGATGGGGTCTTGCTTTGTCATGTAGACTTGAGTACAGTGGCATGATGATAGCACACTGCAGCTTGGAATTCCTGGGCTCAAGCAGTCCTTCCAACTCAGCCTCCCCAGTAGTTACAGGTGCACACCACCATACCTGACTAATGTATTTTTAAAATTTTTTAAGAGAAGAGGTCCCAATATGTTGCCCAGGTTAGTCTCAAACTCTTAGCCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTTGGTAGGATTGCAAGTGTGAACCACTGTGCCTGGCTCCTTTGCAATTCTTATAGATCTCCCAAAGCATGCCAGTAGCATAATTCATGCTGTTAATTATGGGTAGAAAGTGGAAGAATTGATGTAAATATGTTGTTAATGAATTAAATTTTATCCCTTTTGATACCATTTTAAAGTAGTATTCTGAAAAAATTATATTTAACTGGCTTAAAATATGAAAAATAGATATTTTATTATCTATGCTTTATAAAAAGATAAATATATGTGGTAGATTTTATAAAAACAGACAGTTCATTGATACAAGTTATAGCCCTGTCCTCATTAATAAAAATGTTTTTATTTTATGTTTGAACTCCCTTTCTTATTACTGCCTGTTCTTTAAAAATTATGATAGTATTATTTAAAAAGAAATCCTCACATGTTATTTTTCTTGGACAGAAGACATCTTTTTTTGGTTGGTGTACATTTTATTCTTAAAACAGATTTTAACATCATGCACAAAAAAATTTGCACTCTTTTTCCTTTAGACATCTCTTTGCAGTCTTATTTGTTTTCTGTCATGTTTGACAAATTTAAAACACGAATAAGTGACAGCAAAACTTGAGTTAAAATAGCACTTCTGACTACCAACTAGTTGTGTTTTGTAGTGTAGCAAAGCTGATAAATTAGGTGCTATTGTAGGGTTCAGCTAGAGCAAATGAAAATAATTTATCAGAAAAACAAAAAAAATCAAACACTGAATCACAGTTTTTTAAGACTAGAGAATCAGTCAAACACTCTGGAAGTAACTTGAGTTTAACAGCATGATTATTGATGTTTAACAGTTAAATCCTACATTCATTCTGAAAGATTTATGGCCCTGATTTTGTTATGAACTTTACCAATGTAAGAACCTAACAAAATATGAAATATAGTTCAATATGTTACAAAAGGAAAAACAAATCACATTTCTCCCAAAGTAAAAACAGAAGTAGTCAACATGCTGCAAATGTTGAAGTTTAAAATGCTGACTTAGGAAGATATATCTGGTTTTTTGGATTTATTTTGTTTATTTTAGACAAACAGTGAGATAGCACAATTTTAATATTTAGGTATAATATGAAAAACAATATATACATCATTGATTTTATATATATAAACACACATATATCACATTATCTGTAACCTAATATTTAGCATAGTTAGTACTATTCTCGATCATTAACAAATGATTAATAAGATTCATTAATGTTCTTAAAATGGGAATCATTAAGTATTATTTTAGAAAAAAAAGTGAGTGAATTGGTTTTGATGAGAATAATGATAAAGAAACTGATAATAAGGACATTATAGAAGTGAAAGCCCTAAATAGGGAATATTTACCTTGCCTTGTTTGAATTGATTGACCCATACTTTTTTCATTAGAGCCTTGTATGTAGAGGAAACATTGAAATTACAACTTAAAGTTAATGTAGAGCATTAAAACATTTATAAATAACTTATCAACCAGTAATTATCATTGCTTTACCATTTTATAGGGTTTATTATGCTATTCTTTTTCCAGTCATTTCATATTTTTAAGGAAACTATCTTTGTCAGCATTTTGAGATTATGAAATTTAAATCAAAACAATTCCAGATTTCAGAAATGAACAAATAGAGACACTGAGCGGTTATTAATTATGAGTAATTAGAGCTTTCTGGATAAAGAGGCAGCTTTATGCCAGGACTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAAGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGACAACATACTGAGACATGGTCTCTACCAAAAATAAAATTAGCTGGGCATGGTGGGACACACCTGTAATCCCAGCTAGTAGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGGATTTGAAGCTGCAGTGAGCTATCATTGCGCTATTGCACTCTAGCCTGGGTGTCTGAGCAAGACCCTGTCTCAAAAAAATCCAAATAACAACAACAAATGAAGCATCTTTCAAATACAAGCCATTATAGTATACAATTTAAAAATCGGTTTTCCCCAACTTTGAGTTCTTTTGTTTTTTAAACTGCTTAAATAAAACAGTAAAATATTAAGCCAATTGAAGAGAGATAATAAGATTATAAACTGTTGACAACATTTTTGGTCTCTATTTTTATAAAACAAAATGTCTGTTTTTGTACCTATGTTCTTTCTTCCTGTTCGGCTGAAGTTCTTTTTATTTGTTGATACTTATTATTTTTTTATTCAGGTTATTTCACAGTTGAGGATTTTGGGCAGATCCATAACAGCTGGTTCCAAATTTGATAGAGAAATCTGGTCTAATGAACTTTCTCCTGTCCTCAATCTCTGGAAGAAACTAAACCAGGTTAGTAGTGGAATATTCTTCTGATTCTTTTGCTTTTTCTCCCGCATCGTAACCATGTGCTCCCCATTTCTGCCTGAGTCATACAAGTAATCACATTGCAGAGGTTCCTAACTGTGAAGTCATGGCCCATGACCTCCTTTCTTCATACCAGTGCACATCAAAGTTAGTATTTTTTACTCTCTCTTTTATGAAATAGATCTTTCCTTATCTTTAAATAAGTAATCATATTCACATAATTTCAGTTCTTCCCTTTAGCAGTTCATTCCTTGTCTTGATGTTTGATAATTTTCTTCCTCTCAGGGCTATGCTTCTTGTAACAGTTTCTGAGCCCAGTTTCCAACTTTTTTTTAAGTGACATTGGCAGTTTTGTATTTTCTAATGATTTTCCCAATTCATGCAGTTCTTAAAATGTATATACATAGTACAACCATGTAGGTATTCATATGTATATATATTATTATGTAATATAGCTATTTATTCTGAGAATAATGTGTGATTGTTTTCAGTTTTTACTTAGTAATAATATGAAAATGGAATAATTTGCATAATTGACTAAGTTCACCTCTTACTAAACAGAAAACCAATGGCAAAAGTAACCTTAATTATTGCAAAGATCTCATCTTACATTTTGGAGACATAATCCAGGTATTTGTTGGAAAGTTTCCTTCTCTGTGAAATACAGGTTAACTTGTTTGACTCAATTTCCAGAGTTTGGGGGAAGATTAGAGTCTACTCTGTAGTTTTGGCACCTTAGTCCCCTATAATTTTCTCTGCCTACTTCTGAATTTGCAAAGTCCATGTTGTTTTTGCTCCACATTTGATTTAACCTTAAAGCACAACTTATATCTCTGTTTTTTATAAGAAATCCGTTGATGTGATTTTGTAGTTTTAGTGATCATTAATGAAGTTGCGAGGACAGCTCATATTGCTAAGTGTGCAGTCTTCTACTAAGCCACTTTTTTTTAAACTACATTCTTTGAAGTTTTGCACTTCAAAGTTCCCACAGTTGACTCTTCCATCTGTGCAAAGTTTACTTGGATGTGTCATTTAGACTTCCTTGCACTAACTGCTTCTCTTCATCAGGCACATCTGATTTTATGGCTAGTCTCTCTCCCTCACTGCCAGCACACATACATACCTTCTTTGTAATTCTGAGAAAACTTTTTTCGATTATTATGTAAAGAAGACTATACGAATGACTTCAAAGGCTTACATGTAGATTATTTGCCTCCTGTGACCCAACTCAAGATTAGAAACTCACTGTATTCTCTGCCTTTCCCCAAACCCTCATTTACTTTTTTTTTTTTACTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCAAGGTTGGAAGGCAATGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGTGCACACTACGGCACCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGTTTTTACCATATTAGCCAAGCTGGTCTTTAACTCCTGACGTCAGGTGGTCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAACCCTCATTTGGAATGTAGATATAGCCCATTACTAGTTCTCTGATGTTGGATTTCTGCCACAACACACCCCCTAATTACCTGATTCCTACATACAAAGGTAACAGTGTAGAATCTGGGTAGAGTACAATATCATAGGAACATTGAAGTATGTGGCCAGAAGGACAAATTATAGAATATGTTGCTCAAAGGTTTCATTTTAGGAGAAATTACTATTTTAGGGGAAATCATAATTTCCCCTAAAATAAAATTATGATTTTGAATGCTAATTAATTAATAATGCAGTTAAATATTTTGAATTCTCTTCACTTATATAACAGAGATAAAAATGGGACTTCCAGAGCCAGACCGGTGGGGTTCAAATTTCAGTTCTAGAACTTTCTAATTGTATAGCTTAGGAAAGTTACTCGACTTTTCTGTAAAATGGATATAATGATAGTACTTACTATCATTACTTACTATCATCACCAGCAATGATAGTATTCATGAGGATTAAATGCATTAATATATGTAAAGCTTTTATAATAGTGTCTGGCATATGTAAGCACTCTCTTTTAACTACTCATTTAACATTTATCAAAGGTACTTTTATTATGAATGGTCATTTATAATATATGATCATTCATTTTACCCTTTTTCAAGCAAATTATTATTATTTATTTCACAATATTATTGGTCTGTCATTCATTCAGAATATTTTAATGAGTACGTAATGTGTTTCAGTGATTTTTATGCTAGGGACTATGCAGAGATACTTGTGGACAGAATAGTCATGGTACCTACCTTGTGGAGTTTACAGTTAGTTCGTAAGAGAGATATTAGAAGATGAAGCAAGTAAATAAATAAAATATATTATTACAAATTATTGCAGATGCTGTGGGTGGAAAGCACAAGTGGTGTTATAATAAGGGAGAAGACCTATTTTGGCCTGGATAGTTAGGGAGTATCTTGTTTGAGAAGTGAAATGGAATCCAAGATATGAGCAATGAGAAGCTAGCCAGACAGAGTTGGAGGGGAAGACTATTTCAAGCCAAGGTGACAGCATACACAAATTCCCAGAGAAGAGAAAATGTTTGGCGCATTCAATAAAACTGAAAGGATGTCAGTGTGATTGGAGTATAGAGACCAAAGGATAGAGTAGATGAGGTAAGGGGATGCTATGATCTGAATGTTTGTTTCCCTCTTGAAATTCATATGTTGAAGTCTTAACTCTCAAAGTGATGGTATTTGTAGATGGGGTCTTTGGGAGGTATGATTAGGGCATAAGAATAGAGCCCTCACAAATAGGATTAGTGCTCTTATTAAAGAGGTTCCAGAGGGATCCCTTACCCCTTCCTCCACGTGAGGACACTTCAAAAAGACTGCCATCTGTGAATCAGGAAGCAGGTGCTCACCAAATACAGAATCTGCTGGTGTCTTGATCTTAGACTTCTCATACTCCAGAACTGTGAGAAATACATTTCTGTTGTTTATAAGACACCTAGTTTATGGTGTTTTGTTATAGCAACCAGAACAGACTAAGACAGGGATAAGGAATTTTATTCCAAGTGCAATGGGAAACCATGGAAGTTATAGGTAGAGTGGGTATGATCTAGTTTACAATTTCAAAAAGTTTTTGAAGAAAGCTGTTGTGTAGAAGATGGTGAGAAAGTAAGGAGAGCATTCAGGAAGCTCCTGCAGTAGTCCAGGTAAGAGCAGATGGCAGCTTACATTACGGTGGCAGAGCAGATGAAGAGCAGTGGGTGCCCTTGAGTAATGTCAAAATGTAGAGTTATTATGAGAAAAAAATTTAGAGTTATTATAGGGAAACAAACAAACAAAAACAAAAAACGAAAAAAGAACTGAAGACTGTGTTACCATAGAAACCTTGAGGAATCTTTAGTTAGGAATGAAATTGTTAACTAGGCCGAATAGCTTCTGAGAGGTTAAACAAAACGAGGACAGAATTGACCACTGGATATTCAGAATAAAAGTGGTCACTGGTGACCTTGACAAGTAAAGTTTAGGTGGAATAAGGAGACTGGAAGTTAGATTTAAAGGCTGACTAGAGATAGGAGATGAGGAGCTGGAGTCAATGTATCTAGACAATTCTTTTTTAAAATGTGCTTATAAAGGAGAGTAGTGAAATAAGGTGATCAAGATACAGGGCCCATTGTGTTTTTTTCTTAGAGAGGGAAAGTAAGTATTAGGTTGGTTTTAGGCTAATGAGAAAGATCCCGTTGAGGAAGTAGTTGAAGATGCTGAAAAATCGAAGCTCTTAAACCATTTAGGAAAACAAAAACAATGATTTTTGCTAAATGAGGGATCAATAATAAATATAGACATTCCTGCTTCTTAAATATATTAATTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTAGCTATAGGATCTTGATGTAACCACTTCTCTCAATGTGAAACCACTGAAGTTTAATCTTGCCTTGCTTTTCTGTCCTTACTTCTGGTCATATAGAATTCCATTGTTTCAGTATTTACAAGACTATTTGGTTTGTGTATTTGTTTTTAATTATTAGCTCAATCAAGATATATGAAATATTTTTCCCACTTTTTACAACTGTTGATATAATCCCAGATATTCCTTTTAGCTCTTCTCAATGTCACATTTCAAACCAATTCAATTAATCAAGTTTCAGCTTTCTGTCCCTTTGTTTTCTTTGACTTGCCTTAGTTGACCAAATAGAGCGCTACAAAGTTGCTAAACATCCTTGTTCCCAATTTAATCTTTGTATATCTACTCTTTAAATGATATAATAGGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAATATAATATAATATAACAGGCATTTCATTTAAGTATACTGACAGCTGGTCTAGGTTTAGCTTGATTTTTATCCTGTTATTTTGCACGAGATGCCTTAGTAATACTACAGTTCCAAGAAACTTTTCCAACCTGTTTTTCTTAACACATCAGAGGTAAATGTGCAAGAATACTTTAATTATTTTGAAGTAGTTTTCTCCAAAACTCAGCTTCTCTCATCTCTCCACTGCTTTTTTTCTTAATTAGAACTATTAGTTTATGAGAAAATCAGTTTATTTTAGATATGTTTATAAGTGAGCTGGAGAGGAGATCTACTAGTGTGTTATTTCAACTGAGAGAGAATGTTTATCCAGCCACTCTAAAGATTCTGGAATTTAGCAATTTCAAAATTGCTGTTAGGGGTTTAGATTAATACTCAATTTAAAATCTTACCACAAGGCAAACTCTTATTCTAAAAAAAATGTTTTCCGAGTTTGTTCTTTCCCAAACTTGAGCTCCTTTAAGGGAAATACTGATAGATATGGAATTAATGTGTTTATCTTTTAACAGCTAGAATTTTAGAATTTTCCTGTTAGGGATCATTAGGAAAAACTACCATCATGTTGAAACTGGAATATGGAGATCCTGAAATGTTTCTAGTGATTAAAGGGATTGGAAAATATAAATTAAGTCTACATTACTGATTGTGACTAATAATTTAAGGCATCCAAAAGTGTTATTGTAGCTGATTTAGTGTGCATTCTCTGCTGCTTTATGTTTAAGGGGAGAAAACACTATTATATAAAAGGTAAACACCAGCTAGGCTTATTTTGACAGTAGACACTATTTTATTTTCATGGAGCCAAGGACTCACAAAAACTCATGACAGATAGCATTATGACTTCCCAATGTAATAGGAGTCTTTTTTCCATATGAGGACCTTGAAGCTCCATAAGGCAAGCAAGAAATGCCATTAATAAAAAATATGCAAATGTCTGGCTATTCTAGATATCTGACAGAGAATGATGAAAAGGAAATGACCAAAGAAAACCAAAGATATAGTTAAGTTTTACTAAAATATTAACATTTTACATAATGTGAATACTATTAACAATATGTGTAAAGAATCTAATGCAGTACCTACATTTGACTTTTAAAATATCAAAATATTAACTTCAGTAGATTCTAAGAATTTAAGAATCTTAATAAATTATGAGCAAAAGGGCTAAATAAAACAGAAGGGTTCTACTGACAAAGGAGATAGGAGGCTTTCGTGAGAAGCAGTTTCCTTTTGATGATTTTTTTTTTTTTAAGGGCTGGTATTTGATTTGATTACTGAGTTTGTTAGAATAGTTTCGTAATTGGTCCTTGAAACATTTTTATGATGGCTGCTTTACAGTCCTTGTTCAAGAATCCCAACTTCTGTGTCATGTTGGTGTTTGCATCTGATAATCTTTCTTTTTAAATTTAAATTGAAGTTTTACTGGTTCTTGGTATAATGAATAACTTTGTACTATATCCTGAACATTTTAAATATTTGTAAGACTCTGGTTCGTATTTAAATCTTGTTGTTTTTTTTTTTTTTTAAGCAGGTAGTCAACCTATTTAAGTTCAGAATGCATGTCTTGATTCACTTCTATAGGTTGTGGTTCCAACATCAATTTGGTTTATAAAATATCTGCAGTGCTATTCTGGTCTGCCTCACTTGTGTCTTATATGACAGGACTTTACCACCACCACTGCCATCACTACCTCCTCCCCACAGTCTCCACAGAGCCAGCTGTGAGAGGGAGGGCATGCCCTCTCGTTACTTCAGTAGTGAAGTGGAGCCCAGAATTCCACCCACAGGCACTGCAGGGGAGGAGCAATATGCTTCTTACTTCAGGGAGCAGGCAGAAGTCAGAGTACTGCCCAGCATCTCCACCTGGCATCTCTCCTTCTACTGCAGGCCAAGGATGACTCATGACTTTTAATAAAATAATTATTGATTTCTTCTTCTTTTTTAATTTGTAGAATATTTTACATTGGTAAGTTAGAAATGTGCATTGGTGCCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGGATAATCTGAGGCCAGGAGTTCGAAACCAGCCTGACAAACATGGAGAAACCCTGTCTCTACTGAAAATACAAAATTAGCTGGGCATGGTGGCACATTCCTGTAATTCTGGCTACTCAGGAGGCTGAGGCAGGAGAAGCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCGGCTCAGGAAAAAAAAAAAAGTGTATTGGCCTTTTGTAATTAAATTAGTAATAGAAGGTTGCTGGAGATTCTAAAAATAAATTATGTAAAGCCCAGAAATTGTAACTTTAATTCCTATTGGGCTGAATAAGTTAGGAACTCACAGGAATACCTAAGTACTTATATTCAGGCAAGGGTCCAAAATACATTTTTTGATCAGATTGAAATAGGGAAAAGGTGTCAGTTTAACTCATTGTTTAGATCTGGGCTGTTTCTAACCTTCAAACTTGTTGAATAGCCAAAGGAGAGAACTGAGATGGCAAAGCTAAGTAGATATAGCACTATAATTCTTTATTGTACAGGGAAAATTTTCTCTCTTTCCCCTTCAAAAGGTTTGAACATGCAAAGAAATTATATTTTGCAATTTTTAAAACCTACATCTTTGGCTTTATGTGTTTGAGCTATGTTCAGATTGGTTGAAACTAAAGGAAGAAGTGGAGCTTATGAATTTTGGACTAATCTGTAGCTTTTGTGAATCATGAACTAGTTCGATCATCTTTAATAGACGCAGATAAGAACAAATGCTCCTTTTTTGTGAAGTAGTTTTGAATGCAGGACAATAGAACTGGGAAATGAATTTATATCTTAAGAGAGAAAAATATTTAAAATTGTATAGGCATTAAACATGTTTAAACTTCCCTTTCTGTAAAACGTAGTCATGGAACCAAGGATAATTGAATAGCTAGTGTCTCCTTAGGTGGTACAACAAAAATGATGGATTTGGAAGAAGTGATGCAACTCTGGGTTTCATCTTTTGGTTGGAACATTTCCTTAATGTCTTGTTGGATTGAATGTAAGAGTCACTTTTCATTGCTAATACAGAAGTAAAGCAGTATGTCAGGCATTTACAATGGCAAATGCCAAGTTCTTGAGCACATGTGTGCATATATGAATGTGTGTGTCGTGTGTGAGAGGGAAAGCAAGAGAGTCAAAGTTAAAGTCTTTGTGGTCTATTATATTCATGCATTTTAAGGTAAAACACTAGATAATAAAGCAAAAGGGATAAGGACTCAAATCAAGGTTTATTTATAAATGAACCTTTAATAAGAAAAAATGTTTTTCATAGAATTTTTAGTTTAATATAGTTTATCATTATTTTTTATAAAATCTTATTGGTAAGATAATATAAAATGTTAAAATAGGACTGAAATGAGATATTTTTACCATTCATTCTTAATGCAGTTTAATGACGTAAAGCATGGAGCATGGAACTTCACTGCTTTGTTTAAAATTCCAGATCTGCTGCTTACAGATGTAATTCTGCCCATTTTCTTTACTTGCTTTGCCTAGTTGACTCCTCTGTGAAATGGGGATAATAGATTGTCATAATGACTAGATTAGTTAATACTTGTAAAGGACTTAGAACTGCACCTAGCCCAATGTTAAGTGTCCAATAAATATAAACTATTACTAATACAGATTTTAAAGATAATATTAGGAATGAAATTGCTCTGTAATCTCTCTGTATCCTTGAAATTTGATATCCCTTTGATAACTAAACAATTTAGAAGAGTGGCATAATTTTTCTTGCATTTATTTTAAAGATGTAATTAACAGAGAAGCTTATCCTAATAACGTAACAAAAAATAGGTCTGTAGAAAAATGTAGCTTAGTTTAATATCATGGGTCATTTTAGAATCCTAATTAAATTGCATATTAAGCAAGTTTTCAATCAACTACTAATGAAATTGTTCTAAATGAATTACTTCTCTGGGAAGAATAATAATCATTTTTAATGAATAATATATGAGTTGTGGCTAAATGTTATTCAGATATACACATTTGTATGTGTCTGAGTGTGGGTGTGTGTATACTGCTTTATCAGATGAGTTTTTTAAAAAATGTATTTCATTGTTCCAATAGTTATTGCTAGAATGCTTTTTCATCATTTTTCCACTAAATCAAAGATTCTGAAAGGAAATCTTAAATAATTCTTTATACATAATTATGAAAAGTTTTAAAATCATCTAGGACACCTACTCCCATTTTTATCAGGTCACTTTTGTCTTATTTATAAAGTAGAAACCCAGGTTTTTCTTTAGTTTTCAAAATTTGTTGTTACCTTTATACTCCACACATTGTAATTGTACATATTTTGGGGGTGCAATTTGATGTTTAAATACATATATGTTGTATAGTGATCAAATTACGGTATTTAGCGTATCCATCAACTAATGCATTTATCATTTCTTTGTGGTGAGAATGTGGAAAGCCTCTCTTCTAGCTATTTTGTGCTATGCTTTACTCACCCTATAGCTGTAGGGTACTGTAGCTATAGTCACCCTGCTGGGCAATAGAACACCAAAACTTATTCCTTATATCTAATTATAACTTTGTACTTGTTGAACAACCTCTTTTTATCTTCCCTTTATGTATCCCCTCCACAGTTTCTAGTAACCGCTGTTCTACTCTCTGCTCCTATGTTACCAACGTTTTTCCTAAGATTCCACATGAGTAAGATTATGTGGTATTTGACTTTCTGTGTTTGGCTTATTTCACTTAATGTAATGTCTTCCAGGTTCCTCCGTGTTGTCACAACTGACAGAATTTCATTCTTTTTTTTCCTATAGCTGAACAGTATTCCATGGTGTATATATACCATGTTTTCTTTATCCATTCATTGTTGCACATTTAGGTTAGTTCTGTATCTTGTGTCTTGTAAATAGTGCTACAGTAAACGTGGGAGTTCAAATGCCTTTTATACTAATTTCATTTCCTTTGGATATATACCCAGTAGTGAGAGTGTGGGTAGTTCTATTTTTAGTTTTTTGAGAAAACTCTGTACTTTTAAAATAATAGCTATACTAATTTACAATTCCACCAGTAGTATGTAAGTGTTCCCTTTTCTCAATATCTTTACTAACACTTGTTTTCTTTTGCCTTCTTGATAATAGCTTTTCTAACTGGAATGAGACAACATCTCGTTGTGGTTTTGATTTGCATTTCTCTGATTAATGATGTACATTTTTTCATACATCTGTTGGTCATTTGTGTGTCTTCAGAAATGCTGGCTAAGGTCTTTTACCAATTTTTGAATCACATTTGGGTTTTTTTTTTAACCATTGAGGTAATTTCCTTTTACATTCTGGATATTAACCCCTAATTAGATGTATTGTTTGCAAATATTTTCTCCCATTCTGTAGGTTAACTCTTCACTCTGTTAATTGTTTCCTTTGCTGTGCAAAAGCTTTCTAGTTTGATATAATCCCATTTGTCTCTTTCTGCTTTTGTTGCTTGTGCATTTGAAGCCCTATTTAAAAAATCCTTGCCCAGCCCAGGTACTGAAGTTCTTCCTGCATATTTTCTTCTAGTAGTTTCATAGTTTGAGGTCTTTAATTTATTTTTATTTTATTTTTGTATATAATGAGAGGTAGGGGTCTAGTCTCATTCTTCTGCATGTGGATATCTAATTTTTCTAGCACCATTTATTGACAATACTGTCTTTCCCCAATGTGTGTTCTTGGGACCTTTGTCAAAAAATCAGTTGGCTGACTTTGGGCTGGAATAAGATGGCAGAATAGAAGGCTCCACCAGTCACCCTCCCCTCTACCAACCCTGCAAGGATACCAATTTAACTATCTGCACACACAAAAACCACCTTTATAAGCACTAAAAATCAGGTAAGCACTCACAATAACTGGTTTTAACTTCTTATTGCTGAAAGAGGCATTGAAGAGGTAGGAAAAACAGTTTTGAATTGCAGACACCATCCCTCCCCTGTCTCCAAGCAGCAGTGGCATGGCATGGAGAGCGTTTTGGTGCACTGGGGAGAGGGAGATTGCAGCATTTGTGAGGCACTGAACCCAGTGCTGCCCTATTATAACAGAAAACAAAATGGCTGACACCCACCCTCAGAAGGATAATTTAAACCAGCCCTAACCAGAGAGGATTCCCAGATGCTGGCGGCAGGAACCTGAGTTCTTGCAAGCCTCACCAAAGCAGGCGGAAGTACTCTGGGGCTCTAAATAATCTTGAAAAGCAGTCCAGGCCACAAGGATTTCAATTCCTATGTGAGTAATGCTGCTGAACTAGGCCCAGAGACAGTGAACTGGAAGGGACACGTGACCTACTGAGGCACCTGCTGGGGCAGCTAAGGGAATGCTGGCATCACCCCTCTCCTAACCTCAGGATACACAGCTCACATCTCCAAAACAGACTCTTTCCTTCTGTTTGAGGAGAGGAGGGTAAAAAGTGGGGAGGATTTTGTCTTGCATCTTGGATACCAGCTCAGCCACAACAGGATAGGGAACCAGTCAAAGTTGTGAGCCCTTTTTCTAGGCCCTAGCTCCCGGGCAACATTCGTAGACACTCACTGCATCAGAAAGCAACCTGCTGCCTTGAAGGGAAGTACCCAATCCTGGCAAGATTCATCACCTGCTAACTGAAGATCCCTTGTGCCCTGCATAACCAGCAGCAATACCCACGTGTACTACATTGAGGGCCTTGGGTGAGGTTCTGAGGCTTACTGGCTTCAGGTGAGACTCAGCACATTCCCAGCTGTGGTGGTTGTGGAGAAAGACTCCTTCCACTTGAGAAAAGCAGAGAGAAATGCAAAGGGGACATTGTCTTGCACATTAGGTAGAAGCTTGGCTACAGAGATAGGACACCAAAGAGGCTCTTGGAGCCCCAATTTCAGGACTTGGCTCTTAGACGGCATTGCTGGACCTGCCCTGGGCCAGAGGTGAGCCCACTGCCCTGAAGGGTGAGTCCCAGGTCAGGCAGCATTCACTACAAGTGGACTGAAGAACCTTTGGGCCTTAAGGGAATATCAGTGGTAGTTTTAGAGGCTCCTTATGAGCCTGTTGTGGCAGTGGCCACGAGTGAGGCTCCTCTGCCTTTGGAAAGGGGAAGGAAGAAAGGAGAAGGACTGAATTTTGTGGTTTGAGTGGCACAATACTCAGCTGCAATACAATAAAATACCAGGTAGAGTTCTAAGATTTTTGCCTCTAGTTCCTAGCTGCCAGACAGTACCTCTGGACACACCCATGGCTTGGGGAAGCTCACCAACCTGAAGGGAAGGACACAGGCCTGGCTGACTTTGCCACCTGCTGATTGTAAAACCCCAGGGCCTTGAGTGATCATAGGCCATAGCCAAGGAGTGGTTACTGCAGGCCTTGGCAAGACCTAGTGCTGTGCTGGCTTCAGATCTGACACAGTACAGTACTAATGGTGGTAGCCACAGGAGTGCTTGTGTCACACCACCCCCAGCTCCAGGTGACTCAGAACAGAGAGAGGGTCCTTTCATTGGGGTGAAAATAAGGGAAGAGAACAAGAGTCCCTGCCTGATAATCCAGAAAATTCTTCCAGATCTAGTCCAAGACCATCAAGGTGGCACCTCTATGAAGATGCAAGAACCACAATATTACTGGGCTTGGAGTACACCCTAAAGCAGGTAGAGCTTAGATCACAACACCCAAGTCCTTTAAAATATCTGGAAAGCCTTTCTAAGAAGGTACAAACAATCCCAGACTGAGAAAACTACAATAAATAACTAACTCTTCAATGCCGAGACACCAAAGAACACCTGCAAGCATTAACACCATCCAGGAAAACATGACCTCACAAAATTAACTAAGGCACCAGGGACCAATCCTGGAGACACAGAAATATGGGACCTTTCAGACAGAGAATGCAAAATAGCTACTTTGAGAAAACTCAAACTCAACACAGAGAAGGAGCTCAGAATTCTATCAGGTAAATTTTAACAAAGAGATTGAAATAATTAAAAAGAATCAGGCAGAAATTCTTGAGTTGAAAAGTGCAACTGGCATACTGAAGAATGCATTCAAGCCTTTTGATAACAGAATTCATCAAGCAGAAGAAAGTGAGCTTGAAGACAGACTATTTGAAAATATAGTCAGAGAAGACAAAAGAAAAAAGAATTAAAAACAAGCACACCTACAGGTTCTAGAAAGTAGACTGAAAAGGGCACATCTAAGAGTTATTGGCCTTAAAGAGGAGGTAGAGAAAGAGATAGAGGTAGAAAGTTTATTCAAAAGGATAATAACGAGAGCTTCTCAAATCTAGAGAAAGATATCAATATTCACATACAAGAAGGTTGTAGAATACCAAGCAGATTTAATTGAAAGAAGAGTACCTCAAGGCACTTACTAATCAGACTCCCAAAGATCAAGGAAAAAGAAAGGATCCTAAAAGCAGTAAGAGAAAAGAAACAAGTAACATACAATGGAGCTCCAATACATCTGGCAGCAGACTTTTCAGTGGAAGCCTTACAGGAGAGAGTGGCATGACATTTAAAGTACTGAATGAAAAAAATATTTTACCCTAGAATAGTATATGTAGTGAAAATATCCTTCAAACATGAAGTAGAAATTTTCTTGATTTTATTTGCAGATAGCTCACTATTAGTGGATAGTAACACTACTGGTTTTTGTATGTTAATTTTGTATCATGAAACTATACTGAATTTGTTTCTTCTCACAGTTTTTGGTGGAGTCTTTAGAGTTTTCTGTATATAAGATCATGTTGTCAGCAAATAGGAACAATTTGGTTTCTTCCTTTCCCATTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTCTTGCCTAATTGTTCTGGCTAGAACTTTCATTCCTATGTTGAATAAAAGTAGTGAAAGTGGGCAACTTTGTCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCAATTCTCATGCTTCAGCCTCCGAGTAGCTGGGATGCACCACCATGCCTGTCTAATTTTTGTATTTCTAGTTTGACCATGTTGTCTAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCTGCCTGCCTAGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCTCCGCGCCCAGCCTTTATCTCGTTCTTGATCTTAACATTCAGTATGATGTTATCTGTGCATTTGTCAAGTGTGGCCTTTAATTGTGTTGAGGTAGATAACTTCTGTTTCAATTTGTTGATAGTTTTTTTGTCAGGAAGAGATGTTGAATTTTGTCAAATGCCTTTTTTGTGTCTGTTGAAATGATCATGTGGCTTTTGTCCTTCTGTTAATGTGTGTCATTTTTATTCATTTGTATATGTTGAACCATCCTTGCATCCCTGGGGTGAATCCCACTTTAGTATACTGAATGATCTTTTTAATGTATTTTTGAATTTGGTTCGCTAGTATCTTTTTGAGAGTTTTCACATCTATGTTTCAGGGATATTGGCCTGTAGTTTGCTTTTTCTTTGCTGTGTTTTTTCTTTGCTGTGTCCTTCTCTGGTTTTGGAATCACAATCATGCTGGCTTTGTAAAATGAGTTTAGAATTGTTTCTTCCTCTTTATTTTTTTGGAATAGTTTGAAGAACATTGGTATTAGTTCTTTAAATGTTTATGGTAGAGTGCAGCAGTGAAGTCATCAGGTCCTGAGCTGTTCTTTGAAGACTTCTATTACACATTCAGTTTCCACACTTGTTATTGGTTTGTTCAATTGTGTGTGTGTGTGTATGTGTGTTTGGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTGATCTTGACTCACTGCAGCCCCGACTTCCTGGGCTCAGGCAATCCCCATGCCTCAGCCCCCCAAGTAGCTGGGACTACAGTCGTGCACCACCATATTAGGCTAATTTTTGTAGAGATAGGGTTTTTCCATGTTGTCCAGGCTGATCTCAAACTCCTGAGCTCAGGCAGTCTGCCCATTTTGGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGTGACCATGCCTGACCCCATTTTTTAATTGATAATTTATCTTGGTAGATTGTATGTGTCTAGGAATTTATCCACTTTTTTCTGCTATCAGTGTGTTGGCATATAGTTGCTCATAAAAGTCTCTTATGATACTTTGTATTTCTGTGATATCAGTAGTAATGTCCTCTTTTTTGACTCTGATTTTGAGTCTTCTTTTTTTCTTAGTCTAACTAAAAATGCTTGTTGATTTTCATTGACCCACTGGTTATTAGGGGCATGTTGTTTTGTTTCCATGTATTTTTACAATTTCCCAAATTTTTCTTATTGATTTCTAGTTTTATATGATTGTGGCCATACAAGTTACTTGATATGATCTCTCTCTTCCTAAATCTCTTAAAACTTATTTTGTGGCCTAACATATCCTTGAGAATGTTGCATGTGCAGTTGAGAAGAATGTGTATTCTGTAGCTGTTGGATGGAATGTTCTATAAATGTCTGTTAGGTCCACTTGGTCTATGGTGCAATCTTAGTCCAATGGTTTTTTATTTTTTGTCTAGATGATCTGTCCATTGTTGAAAGTGGGGTCTTGGAATCCCCTACTATTACTATATTTCAGTGTCTGTTTCCTTGTAGATCTAATAATATGTGCTTTTTATATTTTGGTGCTTTTCTGTTGGGTGCATCTATATTTACAGTTGCTACATCCTCTTTTTGAAGTTACTCCTTTAGCGTTAATATAATGAGCTCCATAGTCTTTTAAAATTATTTGTGACTAAAAATCTGTTCTATTTTATATAATATGTTTATTCCTGTTCACTTTTGGTTTTTATTTATAAGGAATATCTTTTTCCATCTCTTTTCAGTCCATTTGTCTTTAATGAGTAGGCAACATATAGTAGGGTCTTGTTTATCGATTCAGCCACACTATATCTTTTAATTGGAGAATGATATGGTTTGACCATGTCCCCACACAAATCTCATCTTGAATTGTAATCCCCATAATCGCCGTGTGTCATGGGAGGGACCCAGTGAGAGGTGATTGAATCATGGGGGGTGGTTTTCTCATGCTGTTCTCATGATAGCGAGTGAGTTCTCATGAGATCTGATGATTTTATAAGCTACTGGCATTTCCCCTGCTGGCACTTATTCTCTCCCTTTCCTTTATAAATTACCCAGTCTGAGGTGTTTTCTCATAGCAATGTGAGAACAGACTAATACAGTAAATTGGTACCAGGAGTGGGGCATTGCTATAAGATACCCAAGAACGTGGAAAGCAACTTTGAAACTGGGTAATGGGCAGAGGTTGGAACAGTTTGGAGGACTCAGAAGACAGGAAGGTGTGGGAAAGTTTGGACCTTCTTACAGACTTGTTGAACGGCTTTGACCAAAATGCTGATAGTGATATGGGCAATGAAGTCCAGGCTGAGGTGGTCTCAGATGGAGATGAAAAACTTGTTGGGAACTGAAGTAAAGGTCACTCTGGCTATGCTTTAGTAGAGAGCTTTTTGACCCTGCCCTAGAGAACTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGGTATCTGGCAGGAGAAATTTCTAAACAGCAAAGCATTCAAGAGGAAGCAGAGCATAAAAGTTTGGAACATTTGCAGTCTGACGATGCAGTAGAAAACAAAAACCCATTTTCTGGGAGAAATTCAAACCAGCTATAGAAATTTGTATAATGAAGAGCCAAACACTAATTGCCAAGACAATGGGGAAAATATCTCGAGGGCATGTCAGAGAGACCTTCATGGCAGCCCCTCCCTTCACAGGCCAGGGGCCTAGGAGAGAAAAATGGTTTCTTGGGCCAGGTCTAAGGCCCCCTTGCTGTGTGCAGCCTTGGGACTTGGTGCCCTGCATTCCACCTGCTCTAGCCATGGCAAAAAGGGGTCAAGGTACAGCTCAGACTGTTGCTTCAGAGGGTGCAAGCCTCAAGCCTTGGCAACTTCCACATGGTGTTGGGCCTGTGGGTGCACAGAAAACAAGAATTGAGGTTTGGAGACCTCTGCCTAGATTTCAGAGGGTGTATGGTAATAGATGGATGTCCAAGAAGAAGTCTGCTGTAGGGTTGGAGCCCTCTTGGAGAACCTCTGCTAGGGCAGTGCAGAAGGGAAATATGGGGTCATAGCCCCCACACAGAGTCCCTACTGGGGCACTGCCTAGTGGAGCTGTGAAAAGAAGGCCACCATCCTCCAGACCCCAGAATGGTAGATCCACCAACAGCTTGCACCGTGCTTCTGGAAAAGCCACAGACACACAAAACCAGCTGTGAAAGCAGCCAGGAGAGGGGAGCTGTACCCTGCAAAGCCACAGAGGCAGAGCTGCCCAGGGCCATGGGAGCCTGTCTCTTGCATCAGCATGGCTTAGATTTGAGACATGGAGTCAAAGGAGATTGTTTTGGAACTTTAATGACTGCCCTATTGCATTTTGGACTTGCATGGGGCCTATAGCCCCTTTGTTTTGGCCAATTTCTCCCATTTACAATGGGTGTAGTAGCCAGTGTCTGTACCCCCATTGTATCTAGGAAGTAACTAACTTGCTTTTGGTTTTAAATGCTCATAGGTGGAAGGGACTTGCCTTGTCTCACATGAGACTTTGGTCTTGGACTTTTGGGTAGTGCTGGAATAAGACTTTGGGGGACTGTTGAGAAGGCATGATTGTGTTTTGAAATGTGAGGACATGAGATTTTGGAGGGGCCGGGGACAGAATGATATGGTTTGGCAGTGTCTTTACACAAATCTCATCTTGATTTGTAATCCCCATAATCCCCACCTGTTATTTGAGGGACCCAGTTGGAGGCAATTGAATAATGGGGGCAGTTTTCCCCATGCTGTTCTGATGATAGTGAGTGAGTTCTCATATGATCTGATGGTTTTATAAGCGTCTGGCATTTCCCCTGCTGGCACTCATTCTCTCTCCTGCTGTCCTGTGAAGAGGTGCCTTCGGCCATGATTGTAAATTTCCTGAGGCCTCCCCAGCCAGGCAGAGATGTGAGTCAATTAAAACTCTTCTCTTTGTAAATTACCCAGTCTCAGGTAATTCCTTATAGCAATGTGAGAACAGACTAATACAGAGAATTTAACCCATTAATATTTAAGGTTATTAATAGGTAAAGACTTCAGCCATTTTGCTAAATGTTTTCTGGTTGTTTTTTAGATCTTTGGTCCTTTCTTCTTGTTTAAATCTGGTTTGGTTGTTTCAACAGTGTTGCTAAGCCTTGTTTACTTTTTTTTTCTTACTTGTGTATTTGTTGTAATTTCTTTCTTTGTTTTCACCATAGGGCTAACATAAAGAATCCTGTAGTTGTAACAGAGTATTTTAAGCTGATAATGTAACTTTGGTTGCATAACACTGCTACACTCCTTTCTCTCTCCCATTTATATTTGTGTTATCTTGATTTACATCTTTGTGTATGATGGGTTCCTTAGCCACTATTTGTAGCTGCTGTTTTTTCACCATTTTGACTTTAAATCTTCATACTAAAGGATTGAAAGATTTACATAGCACTATTAGAGCAATTCCGTATTCTTTGTTATAAATTAACATCTACTGGTGGGTTTTATACTTTCATGTGCTTTTATCATTTTTTGTAAGGCCACTCTAGTAGTGACGAATTACCTCAGCTTTTAATTATCTGGTAAGGTCTTTATTTCTCCTTCATTTCTGGAGGATAGCTTTTGCTGGATGTTACATTGTTGACTGATTTTTTTCTCAGTACTTTCTCTTCCTATTCTCTCCTGACCTGCAAGGTTTCTGCTGTGAAATCTGACTGTCTAGTGGGGATTCCCTTATATGTGACTTCACATTTTTCTCTTGCAGCTTTTAGAATTATTCGTCCTTGACTTTTGACAGTTGGATTGAAATGTAGAACTTTTGGGGTTGAATATAATCGGGGCCTTTTGAGCTTCTTGCATCTGGATGTTCATATCTCTCCCAAGACTTGGGAAGTTTTCAGCTATTATTATGTGAAATAGATTTTCTGTGACCTTCTCTGTCTCTTCTCCCTCTTGCACTCATGTAGTGCAAATATTTTTTTCACTTAATGGTGTACCATAAGACCCATAGGCTTTCTTCATTCTTTTGCTCCTCTTATTTTTTCCCCCTTGGACTGGGTTATTTCAAAAGACTTTTCTTCAAGTTCAGAGACTCTTTTTTTCTGCTTGTTCTGGTCTGTTTTTGAAGCACTCAATTGTATTTTTTAGTTTATTTTCAATAAAGTAACATCATATAAGAGAGATTAGACTATCGTACATAATATTTACTAAAATTTAATATTCTTATTAAATAAGCACTTTTTAATCTTTTGATTATAATTATAGATATTGGTGGAAAACTAACCATTTAGTTATATAATTCTGTTTTTAAATGTCTAAACTAAAAATGAAACTAATCTTTTACATTCTTATACATTTATTTCTAGTATGAATATGCAAAATACAAATAATTTTTTCTTCTCCATATCTTGGTGGAAGAGTTACTTTGATAGAATTTGAAGTTACTTTTTACATTTACATAGGGTGAATATTGCTTCTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCATTATATCCTCCACCTCCCAGGTTCAAGCAATTCTCATGCTTCAGCCTCCCAATTAGCTGGGATTACAGGCATGTGCCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCTGGTCTCGAACTCCTGGCCTCATGTGATTCCTCCAGCCTTGGCCTCCCAAAGCAATGGGATTACAGGTGTGAGCTACCATGCCAGGCTGAAGGCTGCTTTTTACATTTTCTTCCAAAGATGTGCACATGCAGTCCAAAAAGTTAATTTAACATCATTAATACTGAGCATAAACAGGGATAAAAAATTTATGATCCAAATATTTATAATTGTTATTAATATTAAGAATTGTACATCTCTATCCCCATTTTACCCTACTCTCTCCCAAATCCCTTCCTTTCACACAGGCAACAGAGTATATTTATGAGCCTTATTTGTTAATGTCATGCTAGAAGTCACTTTGCTCTTTCATTTTCTTGTGATAATTTATCATATATATTTTAAGTTCTCTGCTTTAAGTTCTAACATTGTGGGACTGGCTGCCTTACTTTGCTCTGATTAAGAAAAGAGCCCTTACCATTTTTTTAAAGAGAAATCAATACACTTACTCAAAATGAGCTAATTAGGGTAAGCCTTTGGGATACTGCAAATGGAGAGTAGATTTTCAGGCCACTGTGATGGCTAGGACTGCTTAGATACTTCAGGTTTTTAATTTCAGGAGGTTAAAATCAAATATAGTTTAGAGATTGCTTATAATGCTTAAATTTGGATCTCATTGAAATGAAAATAATCAGTGGTGTCTGGCTCAAGAGAGTAACCTCTAATTCCAAGGCAATTCCAAAATATTATTTAAAAGTGTTTCTTTGTGCAATAAACATTTCTGAGGATTTTTACATCTGAAAATATCTTTATTTCATCTTCACATTTCTCTAGTAGACTGATAGTGTAGCTGCAGATCAATTTTTAGCTTTCCAATTCTTTTTCTACAACTCTTAGAAAATATTACTCATTGGTCTTTTATTGAAAAAATTAATCTGATTCTTATTTCTTTGAAAGTGACTATTTCTTTCCTTCAGAGTATTCTTTGTCTCTGATATTAAGTTCCACGATAATATGTTTAAGTGTATGTTTTTTTGTTTGCATCTATTCTGTTTGATGCTCTAAAGCCAACCTTTCCACCTATTCCTGGTAACTCAAACCAGCTGGATTGCATGCTATGGTATATTAGGTTCGCTGCTGCCTATGGCTAGTTGTTGATATTGCTCTTTTTTAGCTCTGAAATAGTGACACAGTGGATAATGATGCAATCAAGACAATGTGAAAAGAAAAGTTTGCAGCCAAAATCTCTCCCTAGTCTGGTTTGCCCCAGCCATGGCAGTTACCATGTTCTCTCCTCCTGCTTAAAGTGCCCCAACACTTTCTTTCTGCCAGATGTTTCCCATTCCTGTTGTGCCATCTTCTGTGTTCAGTATCCTTTTATTTTGTCAAACACAAGATTTGGAAGTGGGAGATAGTTTTTCATTTTGAGTATAAACCAGGGTAACTTTTAAAACTCCATTTTAATTCTTGTTTGTAAAATACAGTTTTCCAAAATTTTTATATTACATTCATAATAGCCAAATTTATCAAATATTTTCCTCTTCATTCTGCTGTAGTTTTACCCCTCCCATTTTCTTCCCAAAGCCATTACCATGACTGAGGCTTCTATTCTTTATGGACTAAGGCAGAAAACTCCAAATTTTGACTCTTACTTCCTTTCAAATCATCCTTTATTAATATAACATTTATTTTTCTAAGGAAAACCTTTTTTCCCCTCCATAACTTGGTTCTGTAGCCAACCTTACGTCTAAGCTTCTTCTATAGCAAAGCAGATCTTATTGTTGCATGAACAAACCATGACAGATTCTGTGAGGACTTTCTAAATGCTCTTTCCTTCTCCTGGAATCTCCTAGCTATGCTTAACCAATAAAAATCAGATAATGCTCCAGCATGCTCCAGAAGCCCTCTCAGTTGTTACTTATTTCCCCTTCTGTGTTTCTAGTACCAATATATTACTTAAATAATAATTTCCATAAAAGTTATGTTTTAAACTAGGCAAGTTCAGATATGGCACTTGAATAAACAGGAATTATTTGGGGAGAATTTTAAAGTGTATACATATAAATGATTCAAATGAAAGAACTTAAGACCAAATTTTAGTTTTACAGTTTATCATTTTTATCAGGTTATAGTTAATTACTAGCTAAACTTAATAGAATAATTACACTTTAAAAAAATAAGTCAATTTTTGTTGAAAAGTAAAGAGCAGCGAGTCATCCAGGTTCTCATCTTTTCCCATTAAGTATTTACAGGAATTTAGCTGACTGTAAACTTCTGTAACTGACTGTAAACAGTCGAGATAACTCACTACCTTTGTACTGGTCTGAATCACTTCTGAAGTTTTTCTTAGGTTTCTCATGTGTAAAAGAACGTAATAACCACTTCCCTCTCCAGTCATTTGTTTTCTCATTTGTTTATTTATTTATTAAATATCTATTGAGGAACTAATATGCAATAGGTACTATATTAGATGCTAGTGATTTACACTAGAAATTATGCTAAAGATTATACCAATACACACACAAAAAAAGAGTACAGGTATTACAGTCTTCTTTGGGAGCCCAGATGAGGGAATGATTAATTCTGCTGATAGGAAAGTCAGGGAAGACTTTTTTTTGGAGGTTACGTGATGAGGAATTTTTTTTGTTTTTTTGAGATGGGGTCTCCCTCTGTCACCCAGGGTGGAGTACAGTGGTGCGATCTCAGCTCACTGGAACCTCTGCCTCTCAGGCTCAAGCAATCTTTCCAACCTCAGCCTCTCTAGTAGCTGGGACCACAGGTGCACGGCACCAGCCTGGCTAATCTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCTTGTTACTCAGTCTGGTCTCAAACTCCTGAGCTCAGGCGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGATTCCAGACCTGAGCCAACATGCCTGGCCGAGGAATTCTTTAGACAAAAAAAGGTGGAATGGTATACCAGGGAAAAGGAAATACCTGCCATGTTTGTTATTCTAACCTAACTGTTGCCGATAGAACTAGGTTGGAAAGGGGTTAATATCATGCTGGAGTGCTTATGCTTTATCCTTTAGACAAGGAGGATTTAACAGAACTTACAAGAAGGGAGCATGGAGGTGATATAAAAGGTTTGTGTTTTATAAAGGCAAAATTGATGAAGATGTAAATAGTAGATTAGATTAAGAAGATTGAGACCTGAAAACCAATTAAGAAGTTATAATGTTCTAAGAGCAAGGTGGGTGGGGACTTTAGTATTGTGGCAGTGTGAATATAAAGTAAGAAGAGTCAAAACATGTTTCAAAAGTAGAATCAGCCTTCACAGAGATCCTATATGAATCTAATAACAAATAGATGTGATCACAGTTTTTGAAACATGTGGACTTTTCATAGATTAAACATTATCATCATTCTTATTTTAAAGATTTGTGCATTTATAAAAGCCTGGCATAACAAGCACTAGTAGTGTTTGTGACATTGCCATATTCAATATCTTTTATTTATTTTATTTTATTTTATTTATTTATGTATTTGAGATGGAGTCTCGCTTTGTCACTCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCTGCCTCAACCTCCCGCGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCATCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCAGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAATCTTTTATTAATTTAGACGCTAATGCTTGAAGATTAAGACTGTGTCTTCAAATTTTTAGTGATGTTAGTGACTATATTTTTTGGTAAAATATATATTTAAGTATATAACTTTTAACATTACTTTGTGTTAATGGTTAACTCATTATTGTGTAAACTGTTCAAATACACATTTTAACATCTTATTTTTGTGTAATTTTTCCTGGTATTCTGAAAAATTCAGTACGTTTGAAAACAATAATTTGAAAAGCAAAATACTGAAAAGTATAACACCCAAAGAATCTAATCTTCTTTAGTATTCTACATGTATGCCTCTGAAAGGTCAGTTCTTGTTTTAAAATTTTTATTACGTACCAGCTACCACCCAGCAATTTTTAATACCTGTTGATGGTGATAACTATTGAGAATTACTGACATTCTAACCAATTTACATCTACTTTATATATCTTCAGAACTCCCATTAATTCTCATTTAAATTACCTATATGATAAGAGGTGCATATAAAAGAATCTCTTTTGGTCTGGTAGAATCTGTTGAGAGAAAAATAGGTGATAGACTTTTTTTCTGAACAAGAGTTGAACCAGTAACTATATTTTTGTCCAGAATGTTCCCTAGATTTATGTATCTGCCAAATTAAACTTGTAGACTTGGAATAGCTTAATTTCTAAAGAATATGCTAAAGTTAAATAAAATTAAGAAAGTAACAAAAATAGTACTTTCTTAGGTTGCTGAACTAAAAATATCTTTAAAATTGATAATTTCTTCCTCTCAGAGTCTTGTCCAATTTTATTTCCTATTAATCAAGGTGAGTCATAAATGATTGCTTATACTGTTTTTCAAAACTTTGTGGTACGATACTTATTTGTAATACATACCTTGGTTGGATGAAAGCATTTCTCAGTTGTGCTTAGAGCTTTCTTTTTGCTAACACTTCTGAAACTCCACAAACTAATTCACAGTTCTGTATGTCCCAGGTGAAAGATTTCCCTTTGAATTTAGTTCTTAGTAAAACTTTATCTATGCCTCTCCTCCTAAACTGATATGTTTCATTCCTTTTGATAATAAAAATTATGTCATTTACTTACAGCGTTTCAGTCAGCAAAGTAGAACAAATACTAGGTATTTCAATGGATAATTTAATATAGAGAATTGGTAACACATGTTGGAGAGCTCAAAGAGCAAAAAGGGAACAGTGGAATAACTGAGATATTTGCAGGAAGCAGCTACCTCCCCTAGAGCTAGAGGAACACAGGGAATCAAAGAGTCTGAGCTAATCTGAATGTAGAATTGGAGAAAGACCCCTCGGAGCCAGACTTAGACCTCTGAGGAAGGAGTGCTGCTCTTCAGAAGTACTGATGTGTTTGAGGGGGGGATTCTTTGGCTGAGGCTGAGGGTGCCAAATTAAGCTGGATACTGGAGCCAACTGCTGTTGTTGGAAGGATACTGAAAAGAATCTCAAATGAACAGGAAGAAGGAAGTTCCTTTTCCTCTATTCCTGCTTCACGTTCTTGTATAGAAATTCCACTGGCAGAACCTAATAGGACATCATCTGTAAAGAAGAACTTCAGTTTGCAGAGTTAGCCCCAGCTTCACAAACATACATGCTGAGAGATAATACCTCCTACATAATAGAATATGCCTTTTCATTTGCACGTCCTTTATTGGTTTTTTTCTCTAATGTTTTGCTTCTTGATTTGGGTGGTTAGTTTGGTAATTCTTTCTCCTTTTAAATCTTTATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTATTGTCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCCGCGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACCACAGGTACCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCATGCCCGGCCTCTCCTTTTAAAAATCTTAATAAAAGCACTGAAGGCTATATTACTGAGCACCATTTTAACTATAACCCACAGCTTGATAGGCATGTTTTCATTATTGTTCACTTTTAAATATTTTCTAAATTTCATTGTAACTTCATCTTCTATGCTCCATTTTTTTACTCATTCTTTACTGTCTTGATTACCTTTTAGGTATAGATGTCTATTATGTATGACTACATTATGACTAGAGAATATGGTCTTATGACAGTAATCTTTTGAAATTTGTTGGGATTTGCTTTATGGCCCACTATGCAATAACATTTTGTTATGTTTGAAAAGAATGAATATTCTGCTATTGTTGACTGCTGTCCTCCCATTTTATCCTTTAGTGTAAAATGTTTTAATTCAAAGCTTATACTACTACACATACACAAAATGGTATTTTGTTCATTTGTTTTATTTATACAGGTTCAGAATGTTATCTCTTCTTGATATATTGAACATTTGTCATCGTAAAGTGATTCCCTTTAGCGCTTATGTTTTTCCTATTTTTCTGATATTAATATGTCAGTTTTCTTTTGGTTATTTTTTGCTAGATATATCCTAATTTATACTTTTAACGTTAACTTTCTCGAGTTTTTCTATGGGTGCCTCTTATAAAGAGCCTATAGCTGGATTATGCCTGATCTATAACTGGAATATTTAGTCTGTTTACATTAATTTGGATTAATTATACATTTTATATTTTTTATACTTTTTTTTACTCATCTTCCTTTGGACTGATTATTTTCTAATGTTTCTTTTTCCTAGTTTACAACTTATATGCATTTTTTACTTTTTAGTTGGTATTCTGTATGTTTTTTGTACATACATAGCTTATCAAAGTTAAACTCAGTATATTTGCATAACTCCCAGACAGTTCAAGAAGCTTAGTATATTGTACTCAATTCCAACTTTATATGCAGTTATGATTTTATATTTTAGTCTGTCTTTCTTGTTGTTGTAGTCATGTACATAATGCTTATTTGGATTTGCCCCATGTTTATCACTTGTATTGTTCTTTATTTCTTCCTGTATCTCAGACATTCTGTTTGGTTTCACTTTGCATCTGCTTATAGTGTAGAAAGTATCTTTTGGTTGTGAACTCTTGAGTTTTTATCTGAAAATGCCTTTAATTTGCCCTCTGTCTTAAAGGGTATGTTATTCTGTATTAACATCTAATGTCTCATTATACTGAAGGTAGATTTGAGATAGAATTCTGTCTTTTCTGGTTTCTGTTGTTGAGAAGTCAATTTTTGCTTCTTTGATCTATCTTTTCTTGCTGCTTTTAAGATCTCTTTACCTTGATTTTCTGCAGTTATACTGTTGAGATTGGGTATGGAATTGTGTTCTTTTTCTCTTTAATTCATTTTTTTAAAAAATTGGGTAAGATTTAATGGGCTTTTTGAATTTTCATTAGTGGTGTTGATCAGTACTATCAACATCTGAGTTACTCTTTAAATTTTGACTACTTCACTATCTCTCTTTTCTGGAACTCTGATATTGGATGTATGTTAGACCTTTCTCTCTCTGTTCATCATGTGTCTTATTTCTCATAATTTCCATCTTTTTTTCTACATGATGCATTCTGAATAAATTCTACAGAACTGTCTTCTGGTTCACTGTTTTTTTTCAGCTGAATCTGATCTGTCAGCATGTTACATTCTCAGTGTTTCTGTGTAAAAAACCCTAGTCTTATGACTCTTCATCTACCATAGAATTAAATTTGTAGCCATTGCCTAGTTTATTGGTCTGATCAGAAAGGATAATAAAACTTATATTAGCTTCCAGAAAAGGGCCAAAGGGCCTAAAATCCTATATTAAATCCAGAGTCCTGGAGGGACTATAGCATTATCTCCTTAAATATTTACATATCAAAAGGAATAAAGCTCTAAAACTTGGAATCATCTCTAGGTCATCTGGCTCCTGGAGAGATTTTATTTACGTACCACAGTGTTCTTTAAAATTCAGTCACATTACATTTCCTAGACATCCCCTTTCAAAGGAAAGAGGACAGCTGCCTTCTTCCTCTTTATAAGCAGAGAAAAACCATTTTTCTCTACCCCTTGTACCTAGCCAATGGAAGATCTGTCTACTTGAATAGGATAATTGATCTGGTTTTCATGTGGCTGCCCCAGAAATAAGGCCTGGGGCAAGAAGGTAGGGGCAACACACTTAGTTACTATGAGAGAATTAATAAGCAATCTGATCTAGAATACCTCTGTTCACATTCAACATGAGGTAAATAAAGATGAAGATTAAAAAGTCAACACTTAGCTTTCTGAATAATCATGCCTTACTTCTGAACTCGTAGTTACATTTGTTGCATTTAAGAATATGCTTTAATATGTTATTCAACATTTTTGGTTGTTTTCAGCAGCAGCTAGCCCTACTTGAAATAGAAGCTGAAATAATCTTTTTATTTTGAGCAACTGTGAAATAAGTTATATATGTGTATTAAATGATTATGCTTTGTTTGTAGACTTCCTTTTTTTGTTCACTGGTGATGTTATGTGGTATTGGAATTATTTTTTGTTTTCTCATTGAGTCTCTACAGTAGCTGTTGAAATGCTAACTCTTCCTTTTAGCCATAAAGTTATTGAACCAATTAGCTTACTCTTTGAGAGCAGTTGGGCTCTCCTCATACTTTAAAACACACCACACACACACACACACAAAAGTATTTTGGGCTATCTTATTGGCTTTCTTTTTTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAGCGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCATCATGTAACGTTAGATATATCTCCTAATGCTATCCCTCCACACTCCCCCCACCCCACAACAGGCCCCAGTGTGTGATGTTCCCCTTCCTGTGTACATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGTTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTGTATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCAGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCGTACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGCTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGACATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGTATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAGATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCTACTTGTTGATGGGGTTCTTTGTTTTTCTCTTGCAAATTTGTTTGAGTTCATTGTAGATTCTAGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCCTATTCTGTCAGTTGCCTGTTCTCTCTGATGGTAATTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGCAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTGAGGTCAAACATTTAAGTCTTTAATCCATCTTGAATTAATTTTTATATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCACGTTTGTCAAAGATCAGATAGTTGTAGATATGTGGCATTATTTCTGAGAGTTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTATCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTTTTTGGCTTGGGATTGACTTGGCAATGCAGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGATGTATGGCCATTTTCACGATAATGATTCTTCCTACCCATGAGCATGGAATGTTCTTCGATTTGTTTGTATCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGAATGCCTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTCTGGGCTGAGACAATGAGGTTTTCTAGATATACAATCATGTCATCTGCAAAGAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATATCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACATTATGTTGAATAGGAATGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTCTCATAGATAGCTCTTATTTTGAGATATGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGTTGTTGAATTTTGTCAAAGGCCTTTTCTGTATCTATTGAGGTGATAATAAGGTGGTTTTTGTCATTGGTTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATGTTGTACCAGCCTTGCATCCCAGGGTTGAAGCCCACTTCATCATGGTGGATAAGATTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTTTGCATTGATGTTCATCAGGGATATTGTCTAAAATTCCCTTTTTTTGTTGTGTCTCTGCCAGGCTTTGTTATGAGGATGATGCTGGCCTCTTAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCATCTGGTCCTGGACTTTTTTTGGTTGGCAAGCTATGAACTATTGCCTCAATTTCAGATGCTGTTATTGATCTATTCAGAGATTCAACTTCTCCTGGTTTAGTCTTGGGAGGGTGTATGTGTCGAGGAATTTATCCATTTCTTCTACATTTTCTAGTTTATTTGTGTAGAGGTGTTTATAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATACCCCCTTTAACATTTTTTATTGCATCTATTTGATTCTGCTCTCTTTTCTTATTAGTGTTGCTAGCAGTCTATCAATTTTGTTGATCTTTTCAAAAAACCACCTCCTGGATTCATTGATTTCTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCATTTCTGCTCTGATCTTAGTTATTTCTTGCTTTCAGCTAGCTGTTGAATGTGTTTGCTCTTGCTTCTCTAGTTTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCGTTAGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAATTGAGTGGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTTGTTATAATTTCTGTTCTTTTATATTCGCTGAGGAGTGCTTTACCTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAGAAGAATGTATATTCTGTTGATTTTGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCCACTTGGTGCAGAGCTGAGTTCAATTCCTGGATATCCTTGCGAAATTTCTGTCTTGTGGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTATTGTGTGGGAGTCTAAGTCTCTTTGTAGGTCTCTAAGGACTTCCTTTATGAATCTGGGTGCTGCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCTTCTTGTTGTATGGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGCTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGATAGATTTTCCTCCATCCCTTTATTTTGAGTCTATATGTGTCTCTGCACATGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTACCAGTCTGTGTCTTTTAATTGGAGCATTTAGCCCATTTACATTTAAGGTTAGTATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTCGTTAGTTGATGCAGCTTCTTCCTAGCCTTGATGGGCTTTACAATTTGGCATGTTTTTGCAGTGGCTGGTACCAGTTGTTCCTTTCCATGTTGAGTGCTTCCTTCAGGAGCTCTTGTAGGGCAGGCCCGGTGGTGACAAAATCTCTCAGCACTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTAGGAAGTTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCAAGAGATCAGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTACCATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTTTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCATTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGTCTTGCTAGATTGGGGAAATTCTCCCTGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTTCCCATCAGTTTCAGGTACGCCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTACTCTTTTTTCTCTAAACTTCTCTTCTCGCTTCATTTCATTCTTTTGATCTTCAATCACTGATATCCTTTCTTCCAGTTGATTGAATTGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTTATGCCCTGGTTTTCAGCTCCATGAGGTCATTTAAGGACTTCTCTACACTGGTTATTTTAGTTAGCCATTCATCTAATCTTTTTTCAAGGTTTTTAGCTTCTTTGCGATGGGTTCAGACTTCCTCCTTTAGCTCGGAGAAGTTTGATTGTTTGAAGCCTACTTCTCTCAACTCGTCAAAGTCATTCTCTGTCCAGCTTTGTTCTGTTGCTGGTAAGGAGCTGTGTTCCTTTGGAAGGGAAGAGGCGCTCTGATTTTTAGAATTTTCAGCTTTTCTGCTCTGTTTTTTCCCCATCTTTGTGATTTTATCTACCTTTGGTCTTTGATGATGGTGATGTACAGATGGGGTTTTGGTGTGGATGTCCCTTCTGTTTGTTAGTTTTCCTTCTAACAGTAAAGACCCTCAGCTGCAGGTCTGTTAGAGTTTGCTGGAGGTCCGCTCCAGACCCTGTTTGCCTGGGTATCAGCAGCAGAGGCTTTAGAACAGCCAATATTGCTGAACAGCAAATGTTGCTGCCTGATCCTTCCTCTGGAAGCTTTGTCTCAGAGGGGTACCCAGCCGTGTGAGGTGTCATTGTGCCCCTACTGGGGGGTGCCTCCCAGTTAGGCTACTCGGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGTCTGTTCTCAGATCTCAAACTCCGTGCTGGGAGAACCACTACTCTCTTCAAAGCTGTCAGACAGGGACATTTAAGTCCGCAGAGGACATTTCTGCTGCCTTTTGTTTGGCTATGCCCTGCCCGCAGAGGTGGAGTCTACAGAGGCAGGCAGCCCTCCTTGAGCTGCGGTGGACTCCACCCAGTTCGAGCTTCCCGGCCACTTTGTTTACCTACTCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCCTGCTGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATGAGCTAGGCTCCATGGGCATAGGACCCTCCAAGCCAGGTGCAGGATACAATCTCCTGGTGTGCCGTTTGCTAAGACCGTTGGAAAAGCACAGTATTAGGTTGGGAGTGACCTGACTTTCCAGGTGCCATCTGTCACCCCTTTCCTTGGCTAGGAAAGGGAATTCCCTGACCCCTTGCGCTTACTGGGTGAGGTGATGCCTCGCCCTGCTTCGGCTCACACTTGGTGCGCTGCACCCACTGTCCGACAATCCGCAGTGAGATGAACCCGGTACCTCAGCTGGAAATGCAGAAATCTTTCGTCTTCTGCGTCGCTCACGCTGGGAGCTTTAGACTGGAGCTGTTCCTATTCGGCCATCTTGGCTCCACCCCTATCTTATTGGCTTTCTAAGAATCAGTCATGCACATAAACCACACCAAAAGGCATTTCATGGAAAAATATACATCATTTGATTTTTAGGGGGTATGGAGGCAAAGATAAACTTTTCAGTGTAAGTCAATTTTGGAAAAAAAAAAAGTCTTCCTGTTGGTTTCCTTTAAGCAAGTACAAAAATCTCAAATGTATGATATTGTATGTTATTCTTCATAACCCACCCTTCTCTCACACTCTTATATTCCTGAAACTATTTTTTTTTTTTTTGAAATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAGGTGATCCACACACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATGGCACCCAGCCAGAACTTAAAATGTAACAAAATAACTTTGTACTGAAAGGCATATGCCTGACACATAGTCAGTACTCCATGAAAATTAGCTATTCTTCCTCTTAAATATCATGGTCTGTGTTAGGCCTCTTAATGTGAGATTGTATTGTTACTCTATTATTCTACTAGTTTGCCTGTTTACTTGATAGCTTCACAGAGCAGAATCATTCCTCAGGCCAAATTATGGAGCAGATATCATATTAAAGATACTTTCCTAGAAATAAAAATTTTTATTAATGTGCCATCTTTTCTATTAATAGCCTACTTCAAAAATTATTTGCTTTAAAATTATTTACTCATTTCATATGCCTTGAAAGTTTCATAGTTTTTATTAAAATGGCAAAATCACAATTACTTTTGCACCAACTTTATTTCAAACAAAAGCCCCTTTGTATTAGTGTTCTGTAGGTTTCTCCTGATTTTTCTTTTAGAAATATGTAATAGCATTAGCTTCCATGCCTCAGATCTTTCAGAATACTCCTGTATTAGTCCATTTCACGCACTGATAATGACACACCGGGACTGGGCAATTTATAAAAGAAAGAGGTTTAATGAACTTATAGTTCCATATGGCTGGGGAGGCCTCACAGTCATGGCGGAAGGCGAGGAGGAGTTAAGTCACTTCTTATGTGGATGCGGGCAGGCAAAGAGAGAGAGCTTGTGCTGGAGAACTCCTCTTTATAAGACTATCAGATTTCATGAGACTTATTCACTATCACGAGTACAGCATGGGAAAGACCTACCCCTATTATTCAATTACCTCCCACTGGGTCCCTCCCACAACATATGGGAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAACTCCCCTTCTCTTTTAGCCTTGGCTTTACTTGATCTACTAGTTTCCTGTGTTTTTGCCCTTTATTTCAGCTCTTCAACACTTCTGATTTAAACAATTTATTGGGTATTTATTACTTACTTTCCCTGGTTGAATTCTGCTTGCTCAATTAAATAACATATCTTTAATTGCAATTAAAACATGACTGTTTGGGTTTTATTTGATCCACTTGACAATTTGCTATGAAAAGGAATACGGATCTCCGAATCTGTAGGTTCCACATCTGCAAATTCAACCAACCATAGATTGAAAATATCCTGAAATAAAAAACACAATACAGTATAACAACTACTTACGTAATGCTTACTTACATTGTATTAGGTGTTATAAGTAACCTAGAGATTATTTAAAGTATACAGAATTATGTGTGCAGTTTATGTGCAAATACTACCCCATTTTATATAAGAAATTTGAGCATCCATAGATTTTGGTATTGAGGGAGGCTCAATACCAAGAGGAGGGTAGGGAAGGGAATAAAAAAGGAAAGAAAATAGCATTATGAGTTTGGTGAGTTCAAAGAGTTGAAAGATTATAGAATTTCTAGCTACCCATTTTATAGGATAGCCATCTGCCTTACTGTACCAAAAGCCAATTATTAGTGGACAAACAGAGCTAATACAAAGGAGCTTTTGTTTGAAATAAGGTTGGTGCAAAAGTAATTGCGATGTGGATACCCTGTGCTATGGGAGGGGAGGGGATCCAATCCCCTGAGGTATGACTATAGTTGTTACTAGGTATAAAAGGTTTAGAAATCCAAGCTCTGTCCACTAATAACTGGCTTTTGGTACAGTAAGGCAGCCAGCTATCCTGTGAAATGGGTGGCAAGAAATTCTATAATCTTTGAATTCCCTGAACTCACCAAACTCAAAATGCTGTTTTCTTTCCTTTTTTATTCCCTTCCCTACCCTCCTCTTTCCACAGTTTTGCCAGAAATCCACTTGTGGATTTAATTTAATGCAGATATGTACATAATATACAGACATGCAGATATGGGCATAATTTAATCCAGATATGTAATATTTTGACCTTTCTGATCGTAGATGCTTGGGAAAGTTGTCTGTTGAACTTGCATTAATCAGTTATGACATTTTAGATTGCAAGTAATTGGAAAACTCAGCTCAAACTGACTTATGTGAAAAATGGAAATGTATGGTGTATATGATTGAAAAGGTGTTAAAATGTTTTTTTCATAGCTTGTTTCAAGAAACTTGCAAGAATGTCATGAGGACCCAGTGATTTCTATATACATATATATTTCTTATTATGTATTATGTATATCCTCATATATAATATATATTCTGAAAGATCTGATGTGCTGGAATATATACATGCATATGATCATGTATGTTACATATGATCATTGTATCACTGATATACATATATATCATATATATATTTATGTATATGTACACACACACACACACACACACACTTCTCTGTATTGGCACCATTTTTCATACAGCATCTCTTTATTATCACAGAATTATTGCAGCTATTCTCTAATTTATGATCCCTCAGGTTCAAGTCTAGTAGAAAGAAACAGTTACCTATTTTTCAGAATACCCAGCAGAATTCTTACCACATTTCATTGTCTCTGTTTGGTCATGCTGCCATCCCTGAACCAGTCACTGTGGTCAAGAGAATGGAACGCTCTCATTAGTTAAGCCCCAATTCAAGTTGCAAATTAATTTGTGGAACTGAGTTGAATCAACTCTTCCAGAACTCTGTGGACTAAGACTTGGGAAAGGCTTCTGCCCAGACGATAGGAAATGATTATCTAAAGAGGAATGAAGGGTTACTTGAGGGCAAAGGTAGAATTTCCATTACATAGAAGTGAAGGTATTTTTCCCTTTTCTTTAACCCTTACAGATCCACTCCAACTTTGTTTTTACTTCTAATTTCCTTTTTTGCTTTTTAAAGTGACTGTTCATCGAGTCTTTTGTTATCTTTATCTTCCTTATCATAGAAAACATACATTGAACCAAGACATGATCATATAATCTGGAAAAAATACCTTTGTCCATTTGTTGATTACTGTTTTATAAGCTCTGGATAAATACAGCAGAGGCTACATTTTACATCTTATGAATTTCACTGAGTCACATATCTGAGAAGGACTCTGATGTTACCTAGACTCTATATCAATCCCCATAACACCTTGTACAAGTGATAATCTAGTTGAGAGGTTGGCAAACTGCAACTCAGGAATAGGCCAAATCTAGCCTGCTGCTAGTTTTTGTAAATACAGTTCTATTAAAACCCAGTCATACCTATTTGTTTATATTGTCTGTGACTATTTTCATCCTACAACAGCAGAATTGAGTAGTTGCAACAGAGACCTTACAGCCCACAAAGTCTGACGTGTTTACTCTCTGGACTTTTACGGATGAACATGCTAAACTCTGGTCTACCCATTGCTTGAGTGTACTCTGCTGACAAAAATTCTTTCTGAGGGAGAATCATTTCTAAAAGCTCAATTATCAACAAACAAAAAGAATGCTACTTTCATGTGTCATCCATTCACTTAGGTCTAAAATAGTATCCCACCTAGGAAATTGTTTCAGTTAAAACACAAACAACCTGGTTTCACACCTAAATTGTACCAAATTAGACAAATTTTTCTTGCCTAAATGAGTTTTCTTGCTTAATAGTTAAGTTTTAAATATTGATAACCTGTATACACACACACAGCATGGAGTACCACTCAGCCATAAAAAAGAATGAAATTATGTCTTCTGTAGCAATATGGGTGGAGCTGAAGGCCATTATCCTCAGTGAAATAACTCAGAAACAAAGTCAAATACCACATGTTCTGACTTATAAATGGGAGCTAAACAATGGGTACACATGGACATACAAAGTGGAATAATAGATATGGGGCACTGTAAAAGGTGGGAGGTGGGTAAGGGTTGAAAAAATACCTAAATAGTGCACATTGTACTTCATAGGTGATAAGTACTTTAAAAGTGTGGACTTCACCACTATGCATTATATACATGTAAGAAACCTGCACTTGTGTCTAAATCAATAAAAATAAATAGAGACAGAATGAGAGAAAGAAAGGCAGACAGAAAGGAATTAAGAAAACCTTATTCCCTCCTAGCAGCTCCATGATCAGATAATGATTTTGTCTGTATACACTGAGCTTTTTAAGGACAAGATGAACTTTAAAATGTCAAAAGCAATCCTTCAAAAATATACAATTCAATCAATTGTATTTACTCAATAAAAAAAAAACCCTAGTAATCAATTGAGTAAACATATGGCTGTCAGTTGCTAGTTTCATCAAAAAGCATACTGCATAGTCGTTGTAACATACTCATTTTGTGATTGTTAGCTATATTTGAATTATAAATGTTGAGTTTATTTTCAAGACTACGTAACATACAATTTAACATGTTGCTATTGCATAAATATGCTCCATTCATCTTTTGAGAATGTTTAAAGCAGCTGTATTTATTTTTAGAATTGAGTTAGTTTCAGCTTGGATATTGTGGGGATTGCTAAATCAACCTTTTAAAAAGTTTAGGCTGGACATGGTGGCTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGACAGGTTGATCACTTGAGTCCTGGAGTTTGAGACCAGCCTGGGCAACATGGCAAATACCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGATGGGTGCCTGTATTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCGAGGCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATTGTAGATAAATGGAATCTTGCTTCAATGATCTAAGTTTGAGTGTTTTTGTTCTATTAAGTGACAGTGCAAACAATGCTATCAACTTAATAAAATGGATTAAAATCCACAAAATATACTTTGAAACAAACTAAATTAGTACTTGTTAATCTTGCTTGGTATATGATTGATAAATATTTAAATACCACATATTATTTACTTCCAGGAACCCTGTTTTAATATAAAGGATTACAGAAGGTCTATAAGTCAAATTTTATTTGAATTTTATTACTTAGTTGATTTAGGATGGAGATGTGCTAAATATTATTTATTGCATGCTCTGACAAGTAGTTAATTCTAATTAATTTTTTATAATATTAGACATTTTCCCCCTCTGGATTCAGTATGAATGTATCTCAAAAATGATTTCAGAGTATTAATATTGTAAATGTAGCAGTGATAGGGATAAAAATGTCAACATTTAAGCTCATAGCCTGAATCTGCTTTTAGGAATGATTTTATGCTAATAAAATTTACTTAATGTTGATTTATTTAATGGCAGTAACCATGGTAGGTTAAATTACTTACTATGCTAAATAGATGAAAAAGCAACAGTGCCACCATAGACTCGTCAATGTGGCAACTAGTAGAATGAGGAGAAGGGATCCTTAATGAAGACTGTAAGCAGAATACATAGAGAAAATTAAGATAATGAGTAGTAGGTAAGAGAATAGCACTTTCCAAAATTATTTCTTGGCAGTTCTTTGACACTTTTAGACTATTATTGAAAGTGATCTTTTTCTTTTAATTATTGAAAGTGATTTTTTTTCTCTTAATAAGCTGTTTGGAAACAAATGGGATTCCTTCAGTTTTTCTTAAGAAACCCCAGAACTGTCATATATCACAGGCCTTGTTAAAGCATATATATAGAAATAAATACTAAGATATAATGTTCACTGATCTTGAGCACAAGATTTCGTTTTTCGTTTTACTGTGGTTTTGTGTTGTAATTTTCAAATTGAAAAAAATGCCCATTCACATTTTATTTTAAAACCATGATCTCTTCTGCTCTCTTTGTAGTGGTCGAGTAGTATTGCAGTTGTTCTGATCTCTTTGCATTGACTTACGGGATGCCATTTTTTCTACTTTCTTTTCTTACCATACTATTACTTAATGTGGTTTCCCTTTCACTGTTCTTAATTCTCATTTCCCACACCGTTTTTTTTTTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTCACTGCAACCTCCATCTCCGGGGTTCAAGCAATTCTCCTGCCTCAACCTCTTGAGTGGCTGTGGTTACAGGTGCACACCACCATATTCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTGTTGGCCAGACTGGTCTCAAACTCCTTACCTCAAATGCTCCACCTGCGTTGGCCCCCCAGAGTGCTGGGATTACAGATGGGAGCCACCGCGCCTGGCCCACACACCGCTTTAAATGTTGAGGAACTCCAGAATTCCCTTCCTGTGTATTTGCTGACTTAATACATTTGACCGTTTATAAAATAAAAGCATTTCAAAATAGTTTTTAAAACAGAATAGAACAAAAGGTTTAAATAAGTTTCAAAGCGTTTTATATATCAGTGATCTGTGTTACTATTCGGTAAATATTATGACATTTTTCTTTTAGAATTCAAACCTAATACATCAGAAAGTGCCTCCTCCTAACGATCGACAAGGATCTCCAATACTGTCATTCATCATTCTTGAACAATTTAATGCTATTCGTTTAGTACAAAGTGTCCACCAGTCTCTTGCTGCTCTCAGCAAAGTCATCAGAGGAACTACTTTACTGAGTTCAGAAGTACAAAAATTGGCAAGTGCTTTATTAAACCAAAAGGTAAGCGAGTACTAACTGTATGTATTTTTATTTCATTGTTATAAGTGACTCCTCCATCACACATATATTTGTCAGGAATCATATAGTTAATAGCAGAAGACCCGAGTCACACTGGCTTAAGCCATATAAAAATTAATTGACTGATGTAACTGAAGAATCCAATGGTATCTAGCATTATGCCAGCTTGATGTAGGAACTTAAATTGTCATTAGCATGTCAGTTTATGTTAGCTATCTAGTGTTACATATATAATGAAATTTATGTTGATTTCACTTTGGGGCAGGTCCCCTATACATGAGCTTGAGTTTTATATTCCAAGCTCCAAGTCCAACAGAAAGAACACGTGTTTTCTAGTAACACACACAAAAATCTTAGGATTTGCTTTGATTAAAACCAGTTGGCTCATGCGTTATGCCTATTCCCATACTAGTTCAGTGGGCAGTGTGTGCAAAGCTCTCACTGACCAGAGCTTCAGCCAAATGCCTCTTCCTGGAGCTGGGGATGGATTTATCTTTGCCTTTAACACATATACTGAGAGTAAGGAAATGATGATTACCAGTGAAAAGTCTAGATAGTTTTAGAAGAAGGGGAAATCAACACTTCTTGTGCTGAAAAATTGGACCATTTTAAATGATAATAAAATCCATGTATTTTATATCTATTTGATAGAAACAAAAATATGGGATGTTCTGCACAGATTTATTTTAGCTGTTTGGAGAATAGAAACTTTGCAGAAGTTGGTATCTGGAAAATATTTCAGTGGAGTGCTATAGGAATTAAGTTTTCTTTTTTTTTTTCACGCCCCCTTGCTGTTTGTACTCAATATAGGGAAACCTCTGATAGTCAACCTAACAGTCCTCTCTGTTTGAATATAAAATAATAGCCTTCCTAGAACTTCCTACATTCACATATACTAGCATTAAAATATCCAGTGCTTTTCTACATATACAGAAAGGTCTACTCTGGCATCCTTGTCTTCTTTTTTATTTTACCTTGAAAAAGAATCTGTTTTGCATTGTTTTTTCTTTGTACATACATTGCCGTCTCTGTTAATCAACCATGATTATCAAAATACTATAGTTTTGATTTGTACCACAGATTGTAACTAAGTTGTTTTTAATTTGGAGTAGATATATTGTCAGTCATGAAAGATTCTTGGCACAGTGAAGGAACCAGTTGGAAAGGATTCTAAACTTTCTAAAAACTTTATTTAATTAACTCGTTTAATCATCACAGTAACATCTTGAGTGACATACTGTTGTCTCCATTTTACTGTGATGAATTTGAGGCAGTGGGGTGTTACATAACCAGAATCACACAGCAAAGAGTTCCAGAACCAGGATTTGAATCTGGGTATGTCCTGTTGTCATAATAAATGTAAATGCTTCAAATTTATGTATCAAAATATAAATGCTCTTGAGAGTATATTTCTTTATCCAACTATATGCCGTACAGAGTAAAATGTATCATTAAGACAAATTGCTGTTGAATTAGAAGAGAATAATAATATAGGAAGATGACATGTAGAAGAGAAGAGTAAGTCTAGTAGGACGGGTACACAATGAAGTATAATTAGGATTGGATCAGATTTTGAGGTCTCTAAAGCCAAAGAAAGGAACTTGGATTAAATGCTGTAGGCAATAATGATATTTATATGTAGAAATAATAGAGCAAAATGGCTAAGAATGTGACCGCTGGAATATGTCTGCCTGTTTGAGTTCTATTCTACCACATAGCAACTGTGTAACCTTGGGTAGGTTAATTAAGCATCTCTAAACTTCGCTTTTCTCATTTGTAAAATGAGGGTAGTAATAGTACCTACCTCATGGGATTATTACGAGAATTAAAACATCATTAAAGTGCTTGGCACATAGCAAGCACCCTACAAATGCTGTTCTTGTTATTGTTATTTTAGGATAATTTTATTATGAAAAGCTCTTCAAGCATTTATCTGGTATCATTGTACAAAATAAGTTTATAGAAATAGGAATACCATGTAGGTTACTGTAATTCTCATCTCAGGAAGAGGTAGTTAAGTTAGGGCCTGGAATAAGATATTTCAAGATGGTTCTATGTGATATTAATAAAAAATGTAAGAGGTAATTGGTAACCCATCAGAGACAGTGAAGAGGTAAGAGGTAACCCATCAGAGATAATGAAGGAGGTTTCAAAATATTCTGAGATTTATAGGAGGGTGAAGTAAATACCTAAAGTAATAATGTTGGATAGTGCTTGAATTATCTGTTTTTGACTACCTTCTATTAGTCTGTGGTGAGCTCAAGTAATTGAAACCCCTGATGCAAGTAATACAGATGTATTCAGGAGGGAGACTTCTAAGGGGTTGAGGGGAAAAATGCCTGTTGAGGGTCAACGTCCCCCTAATTCTGGTGTAGGAGCTAGACTAGAGTGGTAAAATGCCCTGAAGAAACCAGCAAAAAAGAATACTTCTGAGATAATAAATAGGATTATTCCATATTGGAGGCCTTTTTGGACAATTGTTGTACGGTGGCCTTGAAATGTGCTTTCTTGGATAATATCACGTCATCATTGGTATACAGTTAGTGTATTGGTTAGCAAGCCTAGGGTTAAAAGAGTCATAGAGTTGAAGTGAAATCACATGGCCAGGCCAGATGTTATTAGAAGAGCTGAGAGAGCCCCTGTTAATGGTCAGGGACTGGGGTTGACTATATGGTAGGCATGTGTTTGGTGGGTCGTGGTGTTGTCATGTAGATAGAGGCTTACTAGTAGTGCAAAGACATAAGCCTGAATAAGGGCTATGGCGAATTTGAGAATGGTTAGTAGGATTAAAATAATGAAAGCAATTGAAGCTGTGGGAAGACTAATAGTTGATAGTACTAGTGTGGCTCCTCTGATTAAGTGTATTAGTAGGTGGCCAGCTGTAATGTTGGCTGTTAATCACTCAACTAGTGCTATTGGTTGGATGAATAGGCTAATAGTCTCAATGATTACCAATACAGGAATAAGTGGTATGGGTCTGCCTTGTGGTAAAAAAGTGGGCTAAGGAGATTTTCATTTTAAACTGGAAGCCTGTAATGACTGTGCATGTTCACAAGGGGATTGCTATACCTAGATTTATTGATAATTGGGTAGTTGGTATAAATGAGTAGGGTAGAAGCCCGAGGAGATTGGTCGAGGCAATGAAGAAAATTAGGGATATCAGTATTAGGGATCAGGTTTGTCCTTTAATGTTATGGGTAATTATTATTTTAGTAAAGTTGAACTATTCATTGTTGAATGGAGATCAGTAGATGACTAATTAGATGATTGGAGGTTAGAAATAGTATGGTGGGAAATAAAATGGTTAATACTACTGCGGGTAGACCTAGAAATGTTGGGGTAATAAAAGAGGTGAATAAATTTTCATTCATTTTAATTCTCAAGAGGTTAAATGTTCTTGTATTTTGATTATTTTTTGTGTAGGGGGTGTGTAATAAATGAAATTTGGTAGTTTTAACTGAATAATGTAGAATAAAGTTATGATTATTGACAAGATAACAATAGATCATGTGGAAATATCTAGTCGAGGCATTCACTGCAGAGAGGTGTAGACCCCTCAGTCTTTAACTTAAAAGGTTAAAGCTAAGTAGCTTTACAGTGATATTATAGTGTGGTTGTGGATCAGGTTTCGAAATTTTTTAAGGGAATTGATTCTAGGACAATAGGTATAAAACCGTGGTTAGACCCACACATTTTTGAGCACTGTCCGTAGTAAAGGCCTGGTCATGTAGCAGTCAAGGTAGTTTAAGCATTCAGGAATTGCATCTGTTTTGATGCCTAATGAGGGAATAGTTCATGAGTGTAGGACGTCTTCGGATGAGACTAATATACAGATGGGTATCTCTATTGGGAGAACTGTTCAGTTATCAACTTCAAAGAGTTGAAGCTCTCCTGGCTTTAAGTCTGCTGTTGGGGTTATATAAGAATCAAAGCCTAACTCTTCATGTTCTGTATACTCATAGCTTCAATATCATTGGTGACCAGTTGTTTTGATGGTAATAGAAGGGTTGTGAACCTCATCTGTTATAGAATACGTAGGGATGGGAGGGCAATTAAAATTAAGATAATGGCAGGTGAGATAGTTCAGACAGTCTCGATTTCTTGGGCATCTATGCTGTTAGTATGAATTAATTTGTTGTGAGTATTAGGGAAATAATATATAGGACCAGGGAACTAATTAGGAAAATAATTATAAGAGTATGGTCATGGAAAGTGAGTAATTCTTCCATAATAGGGGATGTAGCACCTTGAAAGCCTAACTGAACTGCATGAGCCATTAAGACATACAGGGTTTAACCTATAACTTAACTTTGACAAAGTTATGTAATGATTTTACTAGTATCTTATCAAGAAATTCATAGAGGTTATGGGATTGGCTAGAAACCAGTTTCAGGAGGTTCGATTCCTTCCTTTTTGGCTTAGGTTTTCATGCAGGTTGGTTCTTCGAATGTGTGGTAAGGTGGTGGACAGCCGTAAAGTCACTCTAAATTAGTAGATGATTGTTCAGTTGTTAGAACTTTTCATTTTGAAGCAAAGGCTTCCCAGTTCTTAAAAATTATTAGTATAACTGCTGCTAGTGAGATAAGTGAGCCTACTGATGAGATAATATTTCATATGGTGTGCACATCAGGATAATCAGAGTAATGTTGGGGCATACCAGATAGGCTGAGGAAGTGCTGTGGGGAAAAGATTAAATTAACACCTATAAATATAATGGTGAAGTGGATTTTAGCCTATCTGATTAATTGTATAACCTGAAAATAAGGGGAATCAGTGGACAAAGCACCCTATCATGGCAAATACCATTCCTATTGATAGGATGTAGTGGAAATGGGCTACAACATAATATGTGTCATGTAAGATAATGTCTAGTGATGAATTAGCTAGTATAATGCTGGTTAGACCTCCTACTGTGAATAGGAAAATGAATCCTAGGGCTCAGAATATTGCAGGAGATCATTTGATGTTACCGCCACGCACTGTAGCTTATCAGCTAAAGACCTTGATGCTAGTAGGGATAGCAATAATTATAGTAGTGGCAGTGAAGTATGCCCGTGTGTCTACGTCTGTTCCTACTGTAAATATATGGTGAGCTCATACGATAAACCCTAGGAAGCCAATTGATATTATAGCTCATACTATGCCCATATACCCAAATGGTTCCTTTTTTTTTCAGAATAATATGTTGCGATATGGGAGATTATTCCGAAGCCTGGTAGAATAAGGATATAGACTTCAGGGTGACCAAAGAATCAGAATAAATGTTGATACAAGATAGGGTTGCCTCCCCTAGCAGGGTCAAAAAAAGTAGTATTGAGGTTACGGTCAGTTAATAGTATGGTAATGCCGGGGGCTAGAACTGGGAGAGAAAGGAGGAGAAGGACTGCTGTAATGAGGGCTGATCAGACAAAAAGGGATGTTTGATATTGGGAAGAGGGTTTTATATTAAATTGTGGTAATAAAGTTAATGGCTCCTAAAATAGAAGAAACACCTGCCAAGTGGAATGAGAAGATGGTTATACCTACAGAGTTTCCTGCATGAATTAAGTTCCCTGCTAAAGTGGGATAAACAGTTCAGCCATTTCCAGCACTGGCTTCTACCATTGAGGATGCAAGCAGGAAAGAGGGGAGGAGAAGTCAGAAGTTCATATTATTTATCCGGGGAAATGCCATGTCAGGTGCCCCAGTTATCAGAGGGACTAGCCAGTTACCAAAAGCCCCAATTATGATTGGTATGACCATAAAGAAGATTAATACAAATGCGTGGGTTGTAACAATAACATTATAAATCTGACCATCTCCTAGCAGAGTTCCTGGTTGGCCTAATTCTGCTCGAATTAGAAGGCTTAAGGCGGTGCCCCCTATTCCCACTCATGCGCCAAATAACAGATATAGTGTTCTGATGTCTTTGTGGGTAGTTGAAAACAATCAATGATTGATGAACGTAAGTGAAAAAAAGGTAAAATGGCTGAGTAAGCATTAGACTATAAATCTAAAGACAGAGGTCAAGGCCTCTTTTTACCAGCCCTGAGGTGATTTCTCATGTTGAATTGCGAATTCAAAGGGGCAGCTTCAATCCGCCTTTCCCCGACAAGGGCAGGAGAAGTAGATTGAAGCCAGTTGATTAGGATGTTTAGCTGTTAACTAAATTATCCTGGGTTTGAATTCCACCAATCTAGCAAGGGCTTAGGTTAATTAAAGTGATTGATTTGCATTCAATTGATGCAGAATAGTCTTGCAGTCCTTAGATCTGTTACAGAAATTAAGTGTAATTTACTTACTAAGGGCTTTGAAGGCTCTTGGTCTTATTTAACCTAAATTTCTAAGTTATGATTAGTATTATTGGAGAGATGGGTAAAAGGAGGGGTAGAAGAAATAAGTGAGAGGAGGAGGAGTATGAGTTTTGTGCTTTCGAATTGTCATTTTATTTTCATATTATTAGATGTGGGGAATATTGTTACTGAGATAGAATAAATTAGGCGTATATAAAAGTACAGGTAGAGTAGGGTTATGATAGCTATAATAGTTGGGGTAATAAGACTTGTTTTTTGTAAATTCTTGAATGATGGCTCATTTGGGCAGAAATCCTGTTAGTGGAGGTAAATCTCCTAGGGATAATAGAATTAGTGGGATTATAGGTGTTAACCATGTTAGTTTGTTTCAGGCATGAAATAGTGACAGGGTTGTAGTGCTTATACTCAGGTTGAGTGAGTGCTAGGAATGCGGCGATTGTTAAAGCAAATAATCAGGTTTAGAATAGTAATGCTTGGGTTATAAATTAGTACTGCTATCATTCAACCTATATGATTAATTGAGGAGTAGGCTAGGATTTTGTGTAGCTGTGTTTGATTAAGTCCTCCTCAACCACCCACCATAATGGATAAAATTGTGATAGCATATTTGTGTGTTTATTGATGGGAAAATTTGAAATATAATTAAGATAGGGGCTAGTTTTTGTCATGTGAGGAGAAGTATGCCAGACATTAGAGAGCTTCCTTGGGTCACTTTTGGGACTCAGAAATGAAAGAGGACTCTTTCTAGTTTTATTACTAGGGCTATTATTAAGGATGAAAATCGATTAATAGTATTTATTGTTCATTGTCCAGAGTACAGGTTATTGGAAAGGATACCTATCATACGAATTATAGATGTGGTTGCTTGTGTAAGGAAGTATTTGGTGGCTGCTTCTCCAGGGCCGGGATTTATTTTTTTTTTTAATTAAGATTGGAGTAAGAGCTAATATGTTTATTTCTAGGCCTGTCCAGATGAGAAATTAGTATGAGCCTAGTATTGTGATAAGAGTTCCTGTGAAAATAGTTAAATAAATAATAAGTTGGGCTGGTGGATTAATTAGTACAGGAAGGAGATAACCAGCATTTTCAGGGTATGGGCCTGATAGCTTATTTATCTGACCTTACTTTAGGACATCGCGTAATAGGTAGCACAGACAATTTTGGATTCTCACGGGTAGGTTCAATTCCTATAGTTCTAGAAATAAGAGGATTTAAACCTTGTTTACTCTATCAAAGTCATTCTTTTATCAGACATATTTATGTTTGGGGTAGAATGCTGGAAATTAGAATAGGCATTGAGACATATGCAGAATGCTAGCGTAAGTGGTAGAAAATTTTTTCATAGAAGATATGAATTGTTCGTAGCAGAAATGGGGGTATGCTGTTGGAATTCGTAAAAACAGGTAGTTACAAGGAGTGTCTTGATAATGAAATTTGTGGTATAGAGTACTGGTGAATGTATGGTGTGTAGTGCTCCTAGAAAAATAGTAGTTAGGGCATTTATTACGATAATATTCATATATTATGCTATAAAGAAGAGGGCAAATGAACCTGCAGCATATTTGATGTTGAAGCCTGAGGCTCTGATTCTCCTTCTGTTAGCTCAAAAGGGCCCCAGTTAGTTTCTGTTAGTGTGGAGATAAATCAGATTATGGCTAGGGGCCATGATGGTAGGAGTAGTCAGAGGAATTCTTGCTTTGTGATGAGTGCATATAAGTTAAATGAGCCACTTATCAGAACTGATAATAGGATAATGGTTAGGGTGACTTCATATGAAATTTGTCTGGGCTACAGCTCATAATGCACTGATTCGTACATAATTTGAATTAGATGCTCATCCTGATCATAGAATAGATGGCTAGGCTTGATGTGGCTAGTATAAATAGGAGGCCTTTATTTAAAATTAATAAGAGGATCCGGTATAGGGAGGTGAGTTCACAAGAGGAGAGCGATAGAAAGGGCCAGGGTTGGAACAGTAATATAAAGGGTAACGGTAGATGTTGAGGGTCATAAGGGTTCTTTGGTGAAAAGTTTTATTGCATCAGCAAATGGTTGAAGCAGTCCGTAGGAGCCTACAGTGTTAGATCCTTTGCGTAGTTGTATATAGCCTAAGATTTTTTGTTCAATGAATGTAAGGAATGCTATAGCAATTATAGTGGGAATAATAAATAGGAGGTGGTTAATTACAGGCATATTGTTAAGAAGAGGAGTTGAACCTCTGATTTATAAAGTTTTATGCAATTACCGGGCTCTACCATCTTAAACCCTGTTCTCGGGTTGGATGTGTGATGATTTGTTTGATTGAGATAGTATCATCTATGAGGCGAGGTTGCTTTATGAAGTAGGCCCTATTTCTCTTGTCCTTTCGTACTAGCAGAAATATTAAATAGATAGAAACCGACCTGGATTACTCCAGTCTAAACTCAGATCACATAGGACTTTAATTGTTGAACAAATGAACCCTTAATAGCAGCTACATTAGGATGTCCTGATCCAACATTGAGGTCGTAAACCCTATTGTCTATATGGACTCTAGAATAGGATTACACTGTTATCCGTAGGGTAACTTGTTCAGTTAAATTATTGGGTCAATATATGTTAACTCGCTTAGACTAGTGCCATTTTAGTTTAGGTTGTTCGGAGGTTAAATTATGCTCCAAGGTCACCCCAGCCAAAATTTTTAATGCAATGGTAATGGGTTAGGGCGAGTTTCTATTTGCCTTAATGAATTAAAGCTCCATAGGGTCTTCTCATCTTGTTTATATCCCGCCGGATAGGTCAGTTTCACTGATTAAAAGTAAGAGACAGCTGAAGCCTCGTGTGGCCATTTATACAAGTCCCTATTTAGAGAACAAGTGATTATGCTACCTTTGCACAGTCAGGATACCACAGCTGTTGAACATATGTCACTGGGGACATGTCTAATACTGGTAATGCTAGAGGTGGTGTTTTTGGTAAACAGGCAGGGTAAGATTTGCCGAGTTCCTTTTACTTTTTGTAACCTTTCCTTCAAGAATACCTTTGTTGGATTAACAGTATAAATAATAAGGTGCTTATTGTATCACTTATTAATATTAGGCTGTTAACGGTCAGTGGGTTATTCCGGTTTGATGTAAGCTTATGTGATGGAGGATATCTTCATGTTACTTATATTAACATTATTGCTTCTATTAAGTAATAGATTAGTCCAACGTAATGTTAGGAGTTCAGTAGAGTGATTAGAATTTAAAATAGATGTTGAGCTTGAATGCTTTCTTAATTGGTGGCTGCTTTTGGGCCAACTATGGTGGTAATAATGTTTACTCTCTGGAGGAAGGTTATTTCCTAGGGTCTAAAGATCTGTCCCTCTTCAGACTAGCAGTTAAACTTACAGGGGACTAAGTAATTCTGTGGGTACGTAGACGGCTAGGCTTGATGTGGCTAGTATAAATAGAAGGCCTTTATTAAAATTAATTAGAGGATCTGGTATAGGGAGTTGTCTAAGATTCTATCTTGGACAACCAGCTATCACCAGGCTCGGTAGGTTTGTCACTGCTACTCATGAATCTTCCCACTATTTTGCCACATAGGTAGGTGTGCTCTTCAGCTGTTCTTGGGTAGCTTGTCTGGTTTCAGGGGACTTGGCTATGGGTCTCTGTGTAAAGTTAGTTATTTCTAGTTAATACATTATGCAGAAGGTATAAGGGTTTGTCTTTGCTTTTTAATGCTTGATTCAGTTCTTTCATCTTTCCCTTATGGTACTATGTCTATTGTGCCAGGATAAAATTTCCATCGCCTATACCTTTATATAAGATAAATGGTTTAAGATTATTTGATAATGTCTTTAGTGAGGTTTGGAGTGAGAGTTGGCTCAAAGTGATCAGGTCATGATGAAATCTTCCAGGGGTAAGCTGGGTACTTTGGATTAAGCTACACTTTGGTTTGTCCAAATGCACTTTCCAGTATGCTTACCATGTTACAACTTATCTCCTCTATACGTGTGTAGAGAGATTTTAGTAATAGGGATTTCTAGAATAGTATTTGGAAAGGTGACAGGCAGTGTGTGTGTGCTTCATGGCCTTATTCAACCAAGCACTCTACTCTTGGTTTACTGCTAAATCCTCCTTGAGTCTTTTGATTTCATAAAGGTTGTCGTGAGATTTTCTGGGTATAGAAAATGTAGCCCATTTCTTCCCACCTCATGAGCTACACCTTGACCTAATGTTTTTATGTGTATTACTTGTGCTTACTCTATAACCTTTTTAGGGTTTGCTGAAGATGGCGGTATATAGGCTGGGGGCAAGAGGTGGTGAGGTAGATCGGGGTTTATAGATTATAGAACAGGCTCCCCTAGAGGGATATAAAGCACCGCCAAGTCCTTTGAGTTTTAAGCTATTGCTTCTAGTATTCTGGCGAATGGTTTTGTTAATATAACTATTATAGTTTAGGGCTAAGCATAGTGGGGTATCTAACCCCAGTTTGGATCTTAGCTGTCGTGTCTTCAGGATATTAAAGCCACATTCGTAGTATGTTTTATTTCAGCCTAAGTTTTTTACAACTTAAATGGAGTTTAGCTTTATTGAGGGCAGATCTTAAACACTCTTTACGCTGAGTTCTATTAGCTTGGGTTAATTGTATAGCTTGGGTTCATTGTATGGCCACAGTGGCTGGCACGAAATTGACCAACCCTATATATCAGTATAGCTTAAACGTTCATTTATTACTAAATATTTATCACTGCTGTTTCCCGTGGGGGTGTGGTTGAGCAAAGTATTTTGAGCTGCATTTGTGCATGCTTGATACTTGCTCCTTTGATCCGGGTGATGTAGAGGGCATTTTTCACTGGGGTGGGGATGCTTGCATGTGTAAAGACCAGGACCAAACCTATCTGTTTATGGGGTTGTGCAAACCCATCTAGACATTTTCAGTGTCTTCCTTTAAATAATTAAGCTACATTAACTGCATAAATACTTCAGCGTAAAGTTAATTAGAATATGAGGAAAGAAGAAATAAGTAAGTATAAACCGTCATTTACAGTTCTAGAAATCCAGTGGTTTAAAGTTGAGTTGGCAGAGGTTTAGTTGGGGGTTACTCATAATTAGGGTATAATTGATTTAGGCTATGATATATAAGGTAGCGCTTTCAGAAGGGTGTATTCAAGGTATCATATCAGTATTAGGGTGGGAAATTGGTTGTTGTGCTTATTGTATAAAATGGAGGCTTTGTTTAGTAGGGTTTTCAGATTGTTAGGAAAATTATATCAATCGAGGGGTAGCCGTTGAGGTACTCATGATTAAAATATGATTTCTGGGCAAATTTGGTTTCTTGTTTTGTTTCTGCTGTTAATTATCTCGGTGACCTGTGGCATAAACACTTGAAAAAAAAAGGATAATTTAACTTTAAATCATTTTCTATGATTATAATATAATGTGGCTTAGATTATGTTGAAAGATAAAGAACAAAAAGGGCTTAATTATATGAAACAATTTTTTAAGACCAAAATATTTTAGAAAGGGGTCATACATTTTTAATTTTTATATTTTTTCTTTCTTTCAACCAAGATCTACTAAGTATTTCATTATTTCACACAGCAACAAAACTGGATGGCTTATTTCTTAATTAACATGTATTTATGTAGGATGCAGATAATTTCAATATATAAAGTATTCTATATTATACTTTGAATTAAGAAATGCAGCCTCAGAAAATATCACTATTTTTGAAATATTTGTATTATTTGCATGAAAATGAATTTGTTAAAATTCTTTCAAAGTATGAAAAATGTGTTTTACAAAGCATGTTTAAATTCTGTCACAGGTGGTATTCTTAGAAATCGTTTAGGCTGTTTGATGAAATGCAAATGAGACTAGTCTGACTTTCACTAAGATCAGATCAGTAAAACACTTTCTGACATTTACTTTCTAATGAGTTTTAACAAAAACTGAGAATTCAGTACTACCCCATTTATTTCAAAATAAAAGTTAAATTTTTGTTAAATTTTTGTTACATTTGAATGTGACAAGTTATGTATGATGCCATACGATTTAATGTGCTTTAGGAAAGAGTTCAGTACTTGACATTTTCTTTACTATGTGTGACACGATTGGAGTAGGAAATTTCCTAGAGAGAATAATGACTTTTATTTCTTTGATAACTTATGATGATCTGCTAAAACTTTTTTAAATACACAATATTTATAATTTGCTTTTTAAAGAAAACAATATTGTAAAATAGTTATCTTCTACATGTTAGAACATAGACTTTAAAACATAATTTAAAATATACAGCAAAAATTACAAAGGTGCAAATGCCAAATTGCTTTATCTTACTGAATAATCACTAAGAGAATGTACCATTTTAGTAGAAATTAATAGGTTGTATTGATTAATTGAACCCCTTTTAAAGCCAACATATCTATTGGTTATACATTTCTGTGTATTCTAACATGCAAGCTGGTAACACTAAATGGCTCTTCAATTTTTTAAACCAGGGAGTCCTTCAGCAATATGGCAAAAATGCTAGTGGATCCTGTGTCTTTTAATAATTTTCAAAACTGTTTAATCATTTTGAAATCATTTTTTGATCACTGACCACCTTAAAAATTGAAGAGGAAGGATGTACTTTCTTAAAATATGTTCATACATATACATATAGAACTTTATTATATAATTTTGAGATGTATGAAGTTAATATCTTCTTTGCTATCCTGGTTATTCCTTTCACTTTCACTCCTTTCCTCTACCATGGCCCTCTTTGTAGGAGTGGTTCTCAAAGTGTGGTCTCCAGACCAATATCATTAGCATCACCTGAGACCTTGGCAGAAATATGAATTCTTGTACCACCCCCCACCTACCCTCCAGACTACTGAATCAGAAACTCCCAGTGTGTTTACTTGCAATTTGTTTTATCAAGCTCTTGAGGTGCGTGTCAACTTTGGGGAAATACTGCAGTCAGAATTCACATCCAAAAAGGCAGTACCTGCCATGTCACCTTTCCATCTATCTCCACTACACTTTGTGAACATTTATGACTACATCCACCATGGATCTTTATAAAATGACTGGGGACCTTATTTTTTGTTAAAAGCCTATTTTTATTGTTTACTTGCCTGCAAATTAGTTCTTAGGAAAGTTCTACTCCAACTATTTTAACAAATAATTATAAACGTTGAATAATTTGTATTTTTTTCATTTAAGGTATTACCTCATGTTTTAAAACATAATATTTATGTTAAATAACAGTTTACTATTTATGCAGAACTTTAGTAGCCCTTATGAAATTTGATACTCTCATCCTGCTTTTACTTAAGAAGACTGTGAAAGAGTTACATCCTGGTAGAGCATTAAAGCCTGTACTGTAATTCTGATGTTGTGATTCCTAGATCAGAGTTCTTTCCACCTTACTGCTCATTAAATATTTTGCTAGATCAAGCAGCTAAATTATAGTGTTTGTTATAAGATGCAGTTATCAGCTTTGTTTGTTTGAACTGAACTGCATATACTCATCTTCAAAGGCCTATCAAATACTGGGATGGAACTCTGCCTACTCCCTCATCTATAGCTTTACTTAGCAACATTTTATTATATGTACTTATAATGTAAATCAATTTTTATTGATTTAAGGGAAAAAAGGGGCCTGCATATAACAAGAATCTTTAATCTTTTGGAATTTTCCTTTATATCCCTAACTTAATATCATCATCCCAAGTTAATAGAATACACTTTCTCTTTTTTAGCAAGAGATTTTAACTTCCAGAGCTTGTCCTTTTGTTTGTCCTTTTTCATTCATTTAGCAAATAAAAACAGAAGTACATTATTGTAAGGACTTTATGCCATGCTAAAAGAAGTTTTATCATTATTATTTGAAAGTAAACTGTGGTAAGTTAAAGATGTGTACATAAGTCATAACACAATGATAAAAATGAAAGTACCAAAGAGGTATGCATAATGAGCCAAAATAGGACATAAGATGGAAACATAACCTTTATCAATTAATACAAAAGCAAGATCAGGAAATAAAAAGTCAGAAATTACAAGTATCAGGAATTAGAGACAGGACATCACTGCATTTCCTACAGACATTAAAAGGATATTAAGGGAATGTTATTAATAATTTTATGCCTACAAATTCAACAACTTAGGTGAAATACACAAATTCCTTGAAATAAATTCACCACTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCACATGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGTTTGAACCCAGGAGAAAGAAATAAAGGATATTCAGATAGTAAGAGAGAAGTCACATTGTCTCTGTTTGCAGGTGACATGGTTGTAGATTTAGAAAACCCCATCATCTCAGCCCAGAAACTCCTTAAGCTAATAAGTAACTTCAGCAAAATTTCAGGATTCAAAATCAGTGTGCAAAATTCACAAGCATTCCTATACATCAATAATAGACAAGCAAAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTGCAAAGAGAGTAAAATACCTAAGAATACAACTTTCAAGAATGTGAAGGACCACTTCAAGAAGAACGATAAAACCACTGCTCAAGGAAATAAGACAGGACACAAACAAATAGAAAAAAAATTCCATGCTTATGTACCACCATAGAATCAATATCATGAAAATGGCAGTACTTCCCAAAGTAATTTATAGATTCAGTGCTATTCCCATCAAGCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTTTGACAAACCTGAGAAACACAAGCAATGGGGAAAGGATTCCCTATTTAATAAGTGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTACCTTACACCTTATACAAAAATTAATTCGAGATGGATTAAAGACTTAAATGTTAGACCTCAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGACTAAAACACCAAAAGCAATGGCATGCAACAAAAGCCAAAATTGACAAATGAGATCTAATTAAACTAAAGAGCTTCTGCACACCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATTCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGAACTCGTTAAAAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATCTATGCAGCCAACAGACACATAAAAAAACGCTCATCATCACTGGTCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACCAATGCTAGAAAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTGGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAAGGATCTGGAACTAGAATTACCATTTGACCCAGCCATCCCATTACTGGGTATATATCCAAAGGATTATAAATCATGCTACTATAAAGACACATGCGCACATATGTTTATTGCTGCACTATTCACAATAGTAAAGACTTGGAACAAACCCAAATGTCTATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGACATAAAAAGGATGAGTTCATGTCCTCTGCAGGGACATGGAATGAAGCTAGAAACCATCATTCTCAGCAAATGATCACAAGGACAGAAAACCAAACACCACATGTTCTCACTCATAGGTGGGAATTGAACATTGAAATCACCTGGACACAGGAAGGGAACCATCACACACCAGGGCCTGTCCCAGGCTGGGGGGCTGAGGGAGGGATAGCATTAGGAGAAATACCCAGTGTAAATGATGAGTTGATGGGTGCAGCAAACCAACATGGCACATATATACCTATGTATCAAACCTGCACTTTGTGCACATGTACCCTAGAACTTAAACTATAATAATAATAATTAATAATAAAAAAGAAAAAACTACTTTTAAGTTTCATATGGAACCAAAATAGAGCCTGTATAGCCAAGACAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCAGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGATTATAGACCAATGGAACAGAACAGAGACCTCAAAAATAATGCCACATATCTACAACCATCTGATGTTTGACAAACCTGACAAAAGACGAGCAATGGGGAAAGGATTTCCTTTTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATACAGAAAACAAACTGGACCCCTTCCTTACACCTTATACAAAAGTTAACTCAATATGGGTTAAAAACTTCAATGTAAAACCCAGAACCTAGGCAATACCATTCAGGACATAGGCACTGGCAAAGACTTCAGACTAAAACACCAAAAGCAAGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAAGAGTTGCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGACAACCTATAGAATGGGGAGAAATTTTTGCAATCTACCCATCTGACAAAAGGCTAATATCCAGAATCTACAAGGAACTTAAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACCTTTATGTGGCCAACAAACTTATGAAAAAAAGCTCATCATCACTGGTCATTAAGGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGATGGAGTCTTTCTTTGTCGCCAGGCTGGAGTACAGTGGCACAATCTGGGCTCACTGCAACATCCGCCTCCTGGGTTCAAGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACACCCAGCTAATTTTTATATTTTTAGTTGAGACGGGGTTTCACCATGTTGGTCAGGGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCTCTTGACCTCATGATCTGTCTGCCTCAGCCTCCCAAATTGCTAGGATTACAGGCGTGAGCCATCACACCTGGCCCAATAAAGTGATTTTTAAAAAGCCAACAAAGACATTATAGGTGAAAACCCTTCACAAATTTGCTTCATGCACATAATCACAAACACTAAACTTCTTACAAGATATTAGTAAATTGAATCCAACAAAATGTAAAATGGATAATGCATCATCCCCACAATACTAGTGTAGGCTAACATTTTAAAAATTGATCCGTGTTGGCCAGGCGTGGTGGTTCACGCCTGTAATCCCAAAACTTTGGGAGGTCAAGGCAGGCAGATCAGAGGTCAGGATTTCGAGACCAGTCTGACCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCACGTGCCTGTAATTCCAGCTACACAAGAGGCGGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATTGCACCACTGCAGTCCAGCCTGGACAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTGATCAATGTTATTTACCATAATAGACTCATAAAGAAAAATTGTAACATTATCTCAATACAGAAAAATCATTAGAAAAATTTAACAGCTAGTCGTGATTAAAAAAAAAAAAAAACTTTAGCAAACTAAGATTAGAAGTGAACCTCTACAGCCAGATGAAAGGGCATCTATGAAAAAGATACAACTAATATGACAGTAAAAGACTATATGCTTTCCTTTTATGATCAGGAATGAGGCATTAAGCTCCACTTCTATTCAATGTTGCACCACATATCCTAGCTAGTAAAAATATTAAGAAAAATAAATACAAGTCATGCAGATTGGAAAGAAAGAAGGAAGCCTGCCTTTATTTGCAGAGGATACTATCATCTATTTACAAAATCTTAAGGAATCTACAAAAAAGATTTAGAGCTAGTAAGAGTTTGTTTAGCAAGATTGTGGGATATAAGGTAAATATATAAAAACTTAATTGTAGCTCTATATGTGAAAACAAATTATTGAAAATTGAAATTTAAAAATATTATGTGCATTACCTTTCTACACACTGAAAACTATAAAATGTTGACTAGTGAAATTGAAGAAGACCTAAATATATGGAAAGATGCATTGAAAGATGTACTGTGCTTGTGGATCAAGAGACCTAGTGTTAAAATGTTAGTTCTAAGATGGCCAATTAGAAGCAGCTGCAGTCTGTGGCACTATGGAGAGGAATGAAAGGGCAAGTGAATTCAGCACCTTCAACTGAAATATCCATGTTCTCGCATTGGAAATGACAAGGCAAAGAACTCACAGAGAACAAAGAAAAGCAGTGTGGGGTAATGGCCCACCTGGGAGTGGCATGGAGCCAAAGGAACCCCCATCCCCAGCCAAGGGAAGCAGTGAGTGATTGTTCGACCCCACCTGGGAAACCACATTTCTCCCACACATCTTTGCAACCCATAGATGAGGATATCCCCTCATGAGCCCACACCACCAGGGCCTTGGGTCCGAAACACAGAGCTGTGTGGAGTCTGCACAGCAGCTGCTCAGGTACACACACACAGGCCCAGGAGTTTTACATACTCCAGTCCTGTGCTACCCAGCAAGGAAAGAGTCCACCTGTATATATCCCTAAAGAAGGGGGCTGAATTCAGGGAGCCAAGCAGCGTCATTCTGCAGGGCCCACTTCCATGGCACTTCACAAGGTAAGACCCACTGGCCTGGAATTCTGGCCAGCCCACAGCAACAGGCTGGAGTCTGCCTGAGGCAGGAACAAGTTTCTTGGGGTAGGGGTGGCGGCCGTCTCTGCGATTTGGTAGACTTAGCCATTCCAGCCTGCTGGCTTGGGAGAATACAAACAGTCCAGATGAGGAAGGGTCCCCCCTCAATGCAGCACACTTGCTCTACAAAAATGAGCCAGACTGATTCTTTAAGTGGTTCCGTGATCCCATTCCTCCTGACTGGATGAGACCTCCCAACAGGAGTCTCCAGATACCTCCTACAGGCACATTTGGGCTGACAACCAGTCATTATCCCGCTGGGACAGAGCTTCCAGAGGAAGGAGCAGGCTGCCATCTCTGCTGTTTCACAGCCTTCACTGGTGATGCCTCCAGATACAGGAAAAATCAAGGCAACTAGGGTCTAGAGTGGACCCCCAGCAAACCACAGCAGCCTTGTGGAAGGGTGGCCTGACTGGTTAAAAAAAAAAAAACCACACAGAAAACAATATTTAAAATAAAAGACCCTACAAAAACCCCAAAGGTCAGCAACCTCAAAGATCAAAGATAGATGAGCCCACAAAGATGAGAAAGAATCAATGCAACAACACCAAAAACTGAAAAGCCAGAGTGCCTCTTCTCCTCCAAATGACTGCAACACCTCTACTGCAAGGGCACAGAACTGGGCTGAGGCTGAGATGGCGGAATTGACAGAAGTAGGCTTCAGAAGGTGTGTAATAACGAAATTTGCTGAGCTAAAGGAGCATGTTATAATCCAATGCAAAGAAGCTAAGAATCATGGTAAAACCATTCAGGAGCCGAGAGCCAGAATAGCCAGTTTAGAGAGGAACATAGCCAACCTGATGAAGATGAAAAACACAACACGAGAACTTCACAATGCAATCAGAAGTATCAATAGCAGAATAGACCAAGCAGAGGAAAGAATCTCAGAGCTTGAAGACTGTCTTTCTGAAACAAGACAGGCAGACAAGAATAGAGAAAAAAGAATGGAAAGGAATGAATAAAACCTCCGAGAAATATGGGGCTATGTAAAGAGACCTAACCTCTGACTGACTAGGATATCTGGAAGAGATCCATTCTGGGGAGAATGGAACCAACTTGGAAAACATATTTCAGGATATCATCCAGGAGAACTTCCCCAACCTAGCAAGACAGGCCAACATTCAAATTCAAGAAATGTAGAGAACCTTAGTAAGATACTTAACAAGAAGATCAACCCCAAGATGCATAGCAAGGCAGGCCAACATTCAAATTCAGGAAATGCAGAGAACCCTAGTAAGATACTCTACAAGAAGATCAACCCTGAGACACATAATCATCAGATTCTCCAAGGTTGAAATAAAAGAAAAAGTATTAAGGGCAGTCACAGAGAAAGGACACGTCACTCACAAAGGGAAGCCCATCAGACTAACAATAGATCTCTCAGCAGAAACCCTACAAGCCATAAGAGATTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATATTTAACCCAGAAGTTCATATCTGGCCAACCAAGCTTCATAAGCAAAGAAGAAATAAGATCCTTTTCAGACAAGTAAATGCTGAGGGAATTGGTCATCACCAGGCCTGCCTTACAAAAGCTCCTGCAGGAAGCACTAAATATAGAAATGAAAACCTGTTACCAGCCACTACAAAAACACACTGAGGAACACAGACCAGTGACACTATGGAGAAACCACATAAACAAGTATGCAAAATAACCAGCTAACATCATGGTAACAGGATGAAAGTCACACATAACAGTACTAATCTTAAAAGGAAGTGGGCTAAATGCTCCAATTAAAAGACACAGAGTGGCAAGCTGTATGAAGAACTAAGGCCCATTGGTATGCTGTCCTCGAGAGATGCACCTCACGTGCAAAGACACACATAGGCTCAAAATAAAGGCAGGGAAGAAAATTTACCAAGCAAATGGAAAACAGAAAAATGCAGGGGTTGCAATCCTAGTTTCTGACAAAACAGACTTCAAACCAACAAAGATTAAAAAAAGACAAAGAAGGACATTACATAATGGTAAAGGGCTCAATTCAACATGAAGAGCTAACTATCTCAAATAGATATGCACCCAGATTCATAAAGCAAGTTCTTAGAAACCTACAAAGAGACTTAGACTCCCACACAATAGTGGGAGACTTTAACCATTGACAATATTAGACCATCGAGGTAGAAAATTAACAAAGATATTCAGGACCTGAACTCAGCTAAGGATCAGGTGGATGTGATAGATATCTATACGACTCTCCACCCAAAAACAACAGAATATACATTCTTCTCATTGCCACATGGTACATACTATAAAATTGATCACATAATTAATTGAAATTAAAACTCTCCTCAGCAAATGCAAAAGAACTGAAATCATAACAAACGGTCTCTTAGACCACAATGCAATCAAATTAGAACTCAAGATTAAGAAATTAACTCAAAACACCACAACTACATGGGAATTGAACAACTTGCTCCTGAATGACTCTTGGGTAAATAATGAAATTAAGGTGGAAATCAAGAAATTCTTTGAAACTAATGAGAATGAAGAGACAATGTAGCAGAATCTCTGGGATGCAGCTAAAGCAGTGTTAAGCAGGAAATTTATAGTACTAAATGCCCACATCAAAAAGCTGGAAAGATCTCAAGTTAACAACCTAACATGCCAACTAAAAGAATTAGAGAACCAAGAGCAAACAAACTGCAAAGCTAGCAGAAGACAAGAAATTACCGAGATCAGAGCTGAACTTTAAAAAGCCTTTAGAAAAAAATCAAAGAATCCAAGAACTGGTTTTTTTTTTTTATAACAAAATAGACCACTAGCTAGAATAATAAAGAAGAAAAGAGAGAAGAATCTAATAAACACAATCAGAAATGATAAGGGAGATATCACAACTCATGCCACAGAAAAACACAAACAACTATCACAGAATACTATAAACACGTCTATACACATAAACCAGGCCATCTAGAAGAAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTGAAGCAGGAAGAAATTGAATCCCTGAATAGACCAATAATGAATTCTGAAATTGAGGCTGTAATAAGTAGCCTACCACCAAAAGAGGCCCAGGACCAGATGGATTCACAGCTGAATTCTACCAGAGGTACAAAGAAGAGCTGGTACCGTTTCTACTGCAACTATTCCAAAAAATTGAAAAGGAAAGACTCTTCCCTAACTTATTCTATAAAGCCAACATCATGCTGACACCAAAACTTGGCAGAGACAACAAAAAAAGAAAATTTTAGGCCAATATCCTTGATGAACATCCATGTAAAAATTCTCAATAAAATACTGGCAAACCAAATCCCACAGCACATCAAAAAGCTTATCCACCGTGATCAAGTTGGCTTCATCCCTGGGATGCAAGGTTTGTTCAACATATGCGAATCAATAGATGTGTTTCATTGCATAAACAGAATGAAAGACAAAAAACACATGATTATCTCAATAGATGCACAGAAGGCCTTCTGTAAAATTCAGCATCCTATTATGTTAAAAACTCTCAATAAACTAGGTATTGAAGGAACATATCTCAGGATAGAGAGCCATATATGACAAACCCATAGTGATGTAATAATGAATGGGCAAAAGTGGGAAGTATTCCCCTTGAAAACTGGCACAAGACAAGGATGCCCTCCCTCACCACTCCTATTCAACATAGTATTGAAAGTTCTAGCCAGGGCAATTGGGAAAGAGAAAGAGATAAATGGTACTCAAATAGGAAGAGAGGAAGTCAAATTGTTTTTGTTTGCAGATGACATGATCCTATATCTAGAAAACTCCATAATCTCAACCCAAAAGCTAGGAATACCTCTGCAGGATTTTTTTGTAAGTATTGGCAATTTGAGTCTATTTTTTTTTCTTTTTGCAAAAATGCAAAGGGTCTACTGTAGACCGTTTTATGAAAACGAGAAAAAAATGGAAGGTCTTACACTTTGTGATTTCAAACATTATGAAGATATTGTCATCAAAATACTGTGGCATTGGCATAAAGCCAGATACAGAGATCAATGAAATGGAAATCAATGGAATGAAGATCAGTGGAATGGAATCCATTAATCAATGGATTGGAATGGATCAATGGAATGGAAGGAATCAGTGGAGATCAGTGGAATGGAATAAGAATCCAGATAGACCCCGAAATATATAATCAATTGATTTTCACCAATAGGCTAAGGTAATTAAATAAGAAAAGGAAAATCTCTTTAACAAATGGTACTAGAGTAATTAAATAGCCAAAAGCCAAAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCTGCAACTGTGTCTCCAAAGATATACAAAAATTATCCCCAAAGTAATCATAAACATTAATAAAACTTCACTAAAATTTTTTAGTGACTTTGTGTTTGACAGTGATTTCTTAAATAGGACACCAAAAATGAACTATAAAAAGAAAAAGTGATACATTGGACTTTACCAAAATTTTAACCTTCTCTTTAAAAGACACTTATAAAAATGAAAAGCAAGCCACAGAATAGGAGAAAATAATTTCAAGACATATACTTAACAAAGGAACCTACAGCTAGATTTTTTCAAAAAACTCAATAAACATCTCAATTATAAAAATGCAAAAAAAAATTGTATAGATATTTTATTAAGACTTGTGGATGGGAAAGAAGCACATAAAAATGTAGGTGTCATTAGGAATATCAGAACTGCAATGAGAATATCAATATATAAAGATCAGTTGTATTTCTGTATAATAGCAATGAATCCTAGTATATGGCACTCACAGTACCCAAAATGAAATTAAGAACTTAATTCCACTTATAATAGCATTGAAAAGAATGAAGTAGATGGGAATAAATTTAACAAAAGGAGATCAAGACTTGTGCACTGAGAGCTACACAACATCATTGAAAGAAATTAAAGACTACTTAAGTAAATGGAAAACCATCCTTTGTTTAGGGGGAAAGGGAGAATGACTGCATGGATCCAGAGTATTTTGGGGGATTGATAAAAATATTCTGGAATTAGTGGTTATGCTTGTACAACCTTGTGAATATATTAAAACCCACTAAATCATACACTCTAGAGAGGTGACTTTGATGGTATATTAATTATATATCAGTAAAAACATTTTTTAAATCACAATGAGATAGCCCTGCACACTAGCTTGATTGGTTTATAGCTTAAATTAAAAAGCCAAATGGTACCAAGTGTTGATATGGATCAGGAACAACTTGAATTTTCAGATATTGCTGATAGTTTAGCTTTTTCTTATAAGGTTAAACATATACTTAACATATTTGCCCACTATATCACTCGTGAATATTGACCCAAGAGAAACGAAAGCATATGCCATACAAATACTTATTTGTGAATGTTCAAAGCAACTTAATTTTTAAGAGTCAAAAACTAGAAACAGCTCAACATTCAAGAGGTGAAATGATAAATTTTTGTTATATCCATAAAATTGGAGTGCTACTCAGAAATTCAAACAATGACTATTTGATTTATGCAACTACATGGATACACCCAGTGTTCTGCTGGCAAATGTTTAAAAACTGGCTCTCCAAAAAAAAAAAAAAAGAGGAGGCAACTTTGATCTATATAGCATTTTCTCATTTCCATGGTACAAATGCTCCTGCCATGACTGATTTCAAGTTACCAATATAAGGTCAATGAATGTGGAGTTAAGAAGAGATGCCTAGTAGCAAACTATTTTATAGTATTTCTTCTATCCATGTCTTCTATCCGGTATTTCTTCTGTCTTATATCCAATAGACATAATCTTGAACACAGATTTCTTGTTTTGTTTTGTAGAGACAGGGTCTCACTCTGTCACCTAGGCAGGAGTACAGTGGTACATTCCTAGCTCACTGCAACCTCCAACTCCTGAGCTCAATAGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGAGTATAGGCACATGCCCTCACACAAGGCTAATTTTTTTATTTTCTGTAGAGATGATAGGTACTCACCATGTTGGCCAGGCTGTTTTTGAACCCCTGTGGTCAAGCGATCCTCTTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGGCGCCACCTGGCCCAGCTTAAATAAACATCATTCTTTATTCAGGTTGCTATTACAAATTTTGATAGACTGGGTGGCTTAAACATTTATTTCTTACAGTTCTGAAGGCTGAGAAATCTAAGATCGGGTGCCAGCATGGTTGGGTTCTGATGACGGCCGCCTTCCACATTGCAGGCAGCCAACTTTTCCTTGTATCCTCATATGGTGGAAAGAGTGCAGGCTAGCTCTCTAACCTCTTATTATAAGAGCATTAATCCCATTTATGAGGGTGAAGCCTCATAACCTTCACCCTCATAACCTATTTCCTTCCAGAGGTCCCACCTCCAAATACCATTAGTGATTAGCTTTCAACAAGACGTCTGAGGGGACACAACATAATAAAAATTGTAAAATAATATGAAAAGATGAGGTTTGAATATTTGTTAACTGTTTTAAAATAACATTTAATTTATAACTTTTAAAATAATGGCTATTTAACAACGAATTTAAATAATTTATAAAATTTTAAGACTTGGCTCTCACTAGCCTTTGTGAGCTGGTTCAATCACATTACTGGATAAATCTCAAAATAATTATACATAACAAAAAAAAGAAGGTTAAAAGTTTAATATTTAAAAGTTTAATGTTTATAAATACTATATATATAAATTTCATTATATACATAATTCTAGAAAATTCAAATTAGTATGTTGTTGGGAACAGGCCCCCAAATCTGGCCATAAACTGGCCATAAACAAAATCTCTGCCAGCACTGTGACATGTACGTGATGGCCATGATGCCCACGCTGAAGGTTGTGGGTTTACCAGAATGAGGGCAATGAACACCTGGCCCACCCAGGACAGAAAATGGCTTAAGGCGTTCCTAAACCACAAACAATAGTATGAGCAATCTGTGCCTTAAAGACATGTTCCTGCTGCAGATAACTAGTCAAAGCCTATCCCTTTGTTTTGGCCCATCCCTTTGTTTCCCATAAGGAATACTTTTAGTTAATCTATAATCTATAGAAACAATGCTTATCACTGGCTTGCTGTCAGTAAATATGTGGGTAAAACTCTGTTCGAGGCTCTCAGCTCTGAAGGCTGTCAGCCCCCTGATTTCCTACTCCACACTTTATATTTCTGTGTGTGTGTCTTTAATTCCTCTAGCCTTGCTGGATTAGGATCTCCACAACCAAGCTGGTCTTAGCAGTGTGTATTAACATACTAGCAATTGTCTGTTAATTAGTTGGTGGGGGTAGGACTGATGGATTACAAATGTAAACAAACTTTTGAGAGTGAAAATATTGTCAATAATTTTTAGTTATATTTTTATTTTACCCTATACAAGTTTAAATACTATTTAGACCCTAAAATTCCATTTAATTTACTGAACATCTATGTTAGCTTGGAAGACTATATGTAAGATTTTTCAACATCCATGCACATAAACACACAAAATCTATGGCTAAACTGATGATTGTTATCTAGTTTGTGCTTCAGTTAATAGCTGGCTAATTTAGTATCAAAAATATAACAAACTAATGGGCTTGAACCCAGGTTTGTTTCACCTCAAGCATTTGATTGATTGGTCGCGTTAATGCGCAGAAATTAGTGCGACTGCCTCAGTAATTGTTTTATGTTCTAATTTATATTAATAGCCACCATACCAAGTGAAACGAACAATTACTATTGAAATATTTTTGTGCCATTTTGCATTAGTAGTTATGTTTAAATAAATTCTATATAAAAATTCATAAATGTGTTGTTTCTTGTTACGGCTCATTTAACATGGTTAGTGTGCTAAATTGTGGAAATCAAAACTCAATACTACTAGCTTTACAATGTTTATAGATCAAATGTTAACGTAAACCCACAGAGCCCATTTAACTCTACTCTTGATGTATGTTTGGTTAAAATTTTTGAGAAAATATTAATAGAAATTATAACCCCAACATGCCTACATACATACATACTTTTAACTATGGCAACATGATATTGGCCTAAATGAATGTATCACAGAAAACAATGTACAAATAATCCACAATTTTTTAAACTCTCAAGGAATGTAATAGCATGAAGACATGTCAGTAAATATTATTTCAATAAATTTCACGGAAGTAAATATACATTCAATGTAGTTTTACTAGATGAAAGAAATGTTACAGATTATCATTTTACTTGCTGAACATACTTAATGATAAACTTACCTTCGTCTTTCCCAGAGCTAAGCTTCACTATAAGTATTCCTAATGTATACCATGCTGTAGATAGTATAATCTGTTCATATTTTAAAAGACAAATACTGTCTTAGACAAATTGTCACAACAAAATACTGTAGACTAGGTAGCTTAAATAACAGACATTTCTCACAGTTCTGAAAGCTGGGAAGTCCAAGATCAAAGGGCTGGCAGATCTGGTGGTATCTGATAAAAGTTTACAGATAGCCATCTTTTCCTTGTATCTTCACACTGTGGAGGGAAGAAAGAGAAAGCAAGCCCTCTCATATCTTTTTACAAGGGCACTAATCCCACCACGAGGGGCTGCTCCATTCTCATGAGCTTATTACTTCTTAAAGGCCTTGCCTCCTAATATTATCACATTGGGGCTTAAGATTTCAACATATGCATCTTGTGGGGACACACACATTCAGTCCACAGCAAATATTAACTAAATCGCTTTTTAAAAACTGTACACATTTTGAGTAGAATTTATCATTCTCCACTGTACTAGAGTTCTTCCAAGAAACAGAACCAGATTATAATATGAATATATATAAAAATAAAAAGCATACGGAAATATATATATAAGTATATATATATAATTCAGTCTCAAATACTAATCTTTTCTGTAAACACCCTCACAGACACACCCAGAAATAACCTTTAATCTGAGGACCCTGTTAGAGTAAAACAGCTTGCTACCTGAATGGAACTCTGGGACAACAGGCATCATTAGTCAAATGGATATATGGTCTCTCTATAACATGAGCTTTTTTTTTTTTTTTCAGAATATCTGAAAGAGAGGAGTAAGGAGGAGTGTGGATAAGAAAAAGCTTGCAGTTGGATGATGTAATAAGTAACACTGAGCAAATATTTATTGCCCACCTACCATGGTCTATATCATGCGAGGCTCTGGAGATAGGAAAAATGAATAGTACATAGTCTATATTCAATGAGCTCAATATAAATAACAAAAACTATCTAACATACAGTGATGGCTAGCAAAACTTCACAGAAGGAAATTAGTAGTCTTTCTTAACCTTTTCCCAATGAAGTTTTTATTTTACTGTGACAAAATATACATGACACAAAATTTACTGTGTTAACCATTTTTAAGTATACAGTTCAGTAGTGCAAAGTACATTGACATTGCTGTACAGCTAATTTCCAGAACTCTTCATCTTGAAAAACTGAAACTCTGTCCTATTAAACAACAGCTCCCATTCACCCCTTCCCCAGCCCTTGGCAACCACCATCTACTTTCTGTCTCTGTGAATCCTGGTATTTTGGGTACCTCATTTAAGTGGAATCATAACAGTATTTGTCTTTGTGTCCCTGGCTTATCTCACTGTGTATAACGTCCTCAAGGAACATCCATGCTGTAGCATATATCAATTTTTTTTTCTTTTTTAAGGTGAATAATATTCCATTGTATGTATATGCCACATTTTGTTTATCCATTCATCCATTGATGGATGTGGGTTGTTTCCACCTTCCTAACTTTTTATAACAGTGTAATCTCTTAAGATAACAAGCATTCTATTTTTTTAATTGAAAAAATCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAATACAAAATTTAGCCAGGTATGGTGGTGGGTGCCTGTAGTTCCAGCTACTCGGGAGACTGAGGTAGGAGGATCACCTGAGCCTGGGAAGTCTAAGCTGCAGTGAGCCATGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAACAAAAAACCTGAGGTTAGTTTTTCATAGAAAGCAAGTAATAGAAGATCCTCTTTGAGAAGGGAAAACATAAAATAGATTCAAAAAATGATTTATGTTTTAAAAGAATCATTCAATTAAATCTTTTAGATCTGAAAGTCCTTAGTTTGCTCATGTACCATTTTATAATCCTTTTTCTGTACTGATAAAAAAAAAAATTGAATGCTACAGAAATACTGTGATGTACCCATGGAGCTGAACAAAGGTCTTGTTAAGATTAAACTACAATCTGCTCTAACTTTTATCACAAATTACTCATTGTCTGTGTTGTACTTCCTCTTAAGCATAGATAGTAAGGGCTCTCTTATTGTTAAATTGTTTCGCTCTGAAACTTGTCTTTATCCTTCTGAAATATAAATTTCTAATTATGTATGTTTGTGAAATAGGTTTTAGTTATTTCAATTAATTGCGTAGAGTTGTAAATTATGGCAAGTGTAGGAGTTAGTGATAATCTTAAATTGTATCTATTGTTAATCATTGCATATGAAGTTGAAATTACAGTGACCTCTCTGCATTTCTTCTCCTTTTCTTAAAATTGTAAACTGAGTCTTTTTTCACACATCATAAAAACCTTGTGCAACTGCTAGTGTTTGAAATAAATTGCAGTTACAGTGCTGTCTCCCTGTTTCAGGCACTGTGATAAGCTAGAATCAAATGAAAGTTCTTCTGACATTTTCAGAACCTAAAATCCAATGTTGGTTTAACTTCAATAGTCTGCAGATAATGGATTACTGGTATTGCACTCCTATTTGAGAAACAAGCTATTATTTTTACCAGTGGGATAGTGATATTTGTTAGTAGTACAAGTAATTCCATCATTAAATAGAGAAGGGAGGAAAATTCCTACAAGTGGCCATTTTTTAAGGTTCATACAATAAACATATTAAGATTCTAGAGTGGAAATTAAAACATCCACAATTGTACTAGAGTGTTTTTTTGTGCAAGTCACTTAACCTTTCTCTACATCAGTTTCCAGATATTTGAAATGGTAATAATTATACCCACTTCCGAGGGTTGTCGTAAGATATAAAAGTCTTAATGTAGATAAAATGCGTATAACAGTGCCTGTACATATAAGTGCTATACAAGTGTTTGCTATCGTTATCCTTCTTTTTCTCATTTTCACATGGTTCTTCATTGACTCACGTTTAGAATATTACCGTACATTTTTAACTCACCTCCCTGATTGCAGTTTCGTCTTCCTAATGTTGTTCTTCCCATTTCTACTAGGGTAATCCTTAAAAAAAATCCAAATTGTTGTGTCACTTCCTCGCTTAAAGGTTGATTTAGTTTTACCATTGTTTTCCAGATAAAATTTAAATTCCTTAGTATAAACCACCACAAATTTTATGATGTCATCCTTAAGTCATCAGCCCATTTCTGTCATGTCTTATTAATGCTTCTTCCTTTCCCTGCTGTCTTTACCTGACTATTATAGATACTCAGGAAAAGACTATTCATTTACCTTCTGAGACTCATTTCAAGCATGATCTCCACCAGAAAGCCTTTCCTAACTCTTGCCATTCTACGCAGTTTGAATTTGATATACTCTACCTTCGTGTTCACAATCACAGTGCTTATCGCTATTAGGGAGCTCAATTTATTGTCCATAGCCATCTCTTTTATTGTTGATTTCCCTTTCTATCATAAGCTTTTGTAGACAAGAATTGTGTTATGACTTCCTATCTTCAGCAGTTAACAAATGATTGGCAAATAGCAGCTATTTACTCATACTTGCTGCATAATCACTTAATTGAGATTTGAGAGAGAGTGAGTTAACAAATGAACACCCTGGTTACAGCCGGTTCTGCTTTTGTGACATCTTTCATGAAATGCATGGGATGGTGAAAAGAGGTTACATTTAGGGTTAGACCTGGATTCAACTTCTCTATCATTTAGTTTAAAAAAAAAAAAAAAAAACTAAAAAACTTTAAGATTAAACTTACTGTAAGCCTTAATGTCTCCATGATTATAAATTTAATTCCCAATACCTAATTATCTTACATTGAATCTCAAATGGTTTAATATGTATAAATCATTATAGAAATATTAGATCTATTAAAGACAGTATTGGTGCTGATATGGACTCTAGAGCCAAGTTACCTGGGGGTTTACATCCTGGATCTGCCATTTGCCAGCTCTGTGATTTTTGAACATGCTATTCTCTTTGTGTCTACATTTTCTCTTCTGTAAAATGGAAATTATAATATTAAGTTGGTGCAAAAGTAATTGCAGTTTTGGACCATGAATTTTAAGTTATTATATTAATAACTAGGCTCAAAGACATCTTTATTAATCAAAATAGGAACCATTACAATCAACACATTTTGCCAATAAGAAATACGTTGGTTTATTCCTGTAACATAATCTGTCCTTTGGGATTCGACAAACTCTTGAAAAGCATTTTCTGCATCCTGTTGATTGTGGAAGTGTTTTCCCTGCAAAATGTTGTTGAGATGCTTAAAGAAATGGTAGTCAGCTGGGGAGAGGTCAGGTGAATATGGTGAATGAGGCAAAACTTCGTAGCCCAATTCATTCAACTTTTGAAGTATTGGTTGTTCAACTTGTGGTGGGGCACTGTCGTAGAGAAGAATTGGGCCCTTTCTGTTGACGAATGCTGGCTGCAGGTATTGCAGTTTTTGATGCATCTCAGCTATTTGCTGAGCATACTTCTCAGATGTAATAGTTAAGCCAGGGTTCAGAACGCTGTAGTGGATCAGACCAGCCGCCGAGCACCAAACAGCAACCATGACCTTTTTTTGGTGGAAGTTGGCTTTGGGAGGTGTTTTGAAGCTTCTTCTTGATCCAGCCACTGAGCTCATCATCGCTGGTTGTCATATAAAATCCACTTTTGATTGTATATCACAATCCGACTGACAAATAGTTCATCGTTGTTACGTAGAATAAGAGAAGACAACACTTCAAAACAACGATTTTTGGTTAGCTCATGAGGCATCCTCTTATCAAGCTTTTATCACCTCTCCAATTTGATTCAAATGCTGAATGACTATAGAATGGCCGATGTTGAGTTCTTCTGCAGCTTCTCCTGTAGTTGTAAGAGGATCAGCTTGGATGATTGCTCTCAGCTGGTTGTTGTCAACTTCCGATAACTGGCCACTATGTCCTCATCTTCAAGGATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTATGTTCGTTAGTAGTTCCTAGGCCAAATGTGTTGTTGATGTTGCCAGTTGTCTCCACTGATTTACGACCCATTGTGAACTCAAATAAGAAAATCACTCGAATTTGCTTTTTGCCTAACATCATTTCCATGGTCTAAAATAACCATAAACAGCAAGCAATAAGTCATCAGCAAAAAAAAAATTGAGAAATGCTCATTAAAATGATGTATAACATAACTACATTTATTTAAGAATGTATTTCAATATCAAACAGCAAATTCTAACAATGTAAAAACTGCAGTTACTTTTGCACTTACCTAATAGTACACTTCTGAGGATTATTTTGAGGACTATATGAGGTGGTGTGTATCAAGCACTCACCATAGTTACTAACACATAGTAAGCACCCAATAAATATTAGCTTAAAAAAATTTCCTGCGACTCTTTTTACCTTTGTGCAAATCTAAGACAACTTTCAAGGCATAGCTTAATAGCTACCTCTTTTTTAAAGACTTCCTTGATTGAATTGTTTTTTCCCTCTAAACTCCAATAACATGATATATAATTTATTCATAAAGCACCACAAGGAACTTCAGCTTTGTATCTCCTTTATTGGTTTTTAAATTTCTTTAAATACTATATTTATTTTATTCATCTCATGTATCACTATCATTATCATTTCTATTATGTCACCTATTATGTTTTAATTCTCTACATATTTAACACTATGAAATATTTTTTATATAGGTAAATATTATCTATCTCGCTATAAAATGTAAGCTCCATAATAGCAAGGACCTTATGTTAATAGTATCTGCACATTGTAGATAGTAAATAATTGCTGAATGGATGAATAATGACTTAAACATCTATTGAATTAATGTATTACACTTGGCAATAATATTGGTAACTCTCTTAACCATCTATAGATGAATAATAAATTGCCCTAAGTCTTAGTGGCATAAAACAATAGAAATTTCTTATATCACAGTTTTTGTGGGTCTAGAATCCAAGTGTGGTTTAGCTGAGTATTCTGGCTCAGGGTTTCTCACAAGGCTCAGCTTCCAAGGTTACTCATGGGCTAGCTGTTAGTCAACTGTGAGTGAGAGGAGTGTCAAATAATTTAAGAGTCATGTTTAAAAACTGCCACAGTCTGCCCTCTAGGCAGAAATTATTTACATTTCCTCACATGCAAAATACAACCGTCTCCTCCCAGACTCCTCCACATGTTTCATTTCATTACAGGATCAGGCTAAGGCTAAAGGGATAAAATTGTCATTTAAATCAGGGGAAAGTATGGATGAGGCTTTTTGGGTTTGATTCCTCAAAAATAACCGCATAAATATTGTTCCCATCTAAAGACCAGTGAACTACAGTGACAAGTTGCCCGTTCCCTTTAAAACCAATATAAAATGGTAGGACAGGCATAGGGTAACTGCAAAGACATTCCTATTCAAAAAGGGAAGATGGAAAGGCTAACGTCCTTAGCAATTCTGAAATCCAAGGAAGTTCATGTTTCCCGTTCCTTTATTAGAATTTTGTATTGTTTCCTAGGAATGATTAATTGCTCTTGGCTTTACCTTCTGAGCGCTGGATTCTAACCTCTGAATTATCCATACATTTCAATAAGATGTAGCTCATGTTTGCAGCTGAGTGGTTTTTTCGGTCTGTTTCCTGCCCATAGAAGCCCTGGAGCCAAGTTCTCTTTGAATTGCATCCTCTCCTAACCCTGTAATCCTAAACTGATAGTTTACACCAGAACAGTTTTTCTGAAACTGGGAGTTTGCTATGAATCTCATTGAGATTCACTCCATTAGACAAAAACCACAAACAAATCTTTTCAAGATAAGCCTTTCTTTCTATCTTAGGCTTCTTTTGCATCAGCTGTGGGACAACACCCTTAAGATTTATTGAAGCCCTATTGTTTAACAGAGGGTTGTCTGAGATTTTTCCTTCCTTTTTTTTTTTTTTTAAGTCCTCAAAGCTCCATAGGCTTCCTCTAGTATTCTTCTAGAAGTCCTTTTAAGTTTTCACTTACATTCTCCTAAAGATCCCTCCAGCTTCAGCCCATCACCTAGTCTCAAGTCCAATGCCATATGATTGAGGATTTTGTTAAGGCAGCACCCTGCCTCTGGTGTATCAAAATCATTATCGGTTGTCTTGCTGCAGAACAAATCTCACCAAAACTTACTGGCTTAAAATAATGTTTTTTAAAAATCATTTATTTTTAGCTTAAAAGTGTGAAATTTACTAGGGCTTGGTAGAGAAAGCTTGTCTCCTTCACACAGCTCACTCATGGTTAGCAAGTTGGTGCCGGCTGAGAGCTGGGGGTCTCTGTTCATCTCCACATGGGCCTCTCCAAAGACAGTTTGGGCTCCACAGCATGGTAACTGGCTTCTAAGATTAAAAGTCTCGAAAGGCAGGAAATATAAGCAACCAATTTTTTATAGCCTAGACTTGGAAACTGGCATAGTATCACTTTCTCTGTATTGGAAGACAGGAGCACAGACCTCAAGTCTCAAGAGGCAAAGTGTCAAAGGATTTGCAGTTGTGTTTCAAAATCACTACACCTGTTTTAGATCAAAGCACAGTTCTGGCACTTATCTATCACATTCCTAAGAAGGCTTACTTTATTCCTGTAAAGTAAAGGGATTCGATGTTTTCTAAGGTCCTTTCTACTCTAAATTTGGTCATCTTACAATTCCCATTTTCTATACATTGTTGATATATTCTAGCCCATAGCAGCTTCTTAACTATGTAATCAGACAGTGTTTGGGGTATAAAATTGACGTTCTCTCCTTATTACCACACTTCAGAAAAATAATATGTTGAGAAGTTTGTGTGATATTTAGAAAATCCAGAAAACCTTCACCAAAAAGGTATATTATAATGAACATGACCTTACAAGAATACTTGTGAAGAGTCTGCATTAATGGTTAATGCCTTTATTGGAAGGTCAAATATTAGATAACTTTTGTAAGGCAGCTGTTCTTAGAGGGGTTTTATTTATTTTTAATTTCATGTACTCCTTTTTATTTTTTTCTGTTTGTTTCATATGTCTCCATGTGGTTGGGGAATAAAGTTTCCATTATACTGCTCTATTTATAGTTTTAAAAAATTCTGTAGGGACCAAAGCTGGTTGTTTTTTAATCTTTACCACTTATAAAATGAATTTGTCAAATTTAATTTGAGTTTCATTTGCAGTAAATATTGTTTAAGAAAACATGGTTGACTATTTTTTATATGCCAGTTTAAGTTCATCTTGTTATTCTTTCAGGAACTTGTACTTTCCTTCCTTTTAGAGAAACATTAATTCATGCTGTCTCTACTGTTCAATTTAATGAGATCAAACTTAATGAATTTCATATGTATATGTGAATTATGCCAAAATTTTTCTCCATCACACTAGTGTTAGTAGTCTTCTATATGTAGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGACTGTGTGACTATTGTATTATAGAGATAACCATTGTGCTAATCACTAGTGAGAATTACACTATGATTTTGCACATAAAACATCATATATTCATTATTCTGCCATTTGTTATTTTTGTATAGCACTGTTCTATTTTTTTTTTTTTTTTACAAAATGTGCTTTCTGCTTTACTGTGGCTTTTCATCATTTTCGAGAATTTAGAGAAAAATTTACAATTTTAGTACAGTTGGATCACATAGACGGTAACTGACACTGAATCATCACTGTGACTAGTTTGCCTTAGGGAGCTCCCTATGGGGAGCTGCTTTAAAAAAGTTTTCTTCAAATTGATCAAGTTTTTTCAGAATAAACCAGTCAGGTAACTTCAGGAAAACAGAAGAATAATATAGACAGAGAAAGAGTGTATTTTTAAGGAATAGTAAACATGATACAGGTTAGTTGATGCAAACAAGGTACCTTTGTGGATTTTCCACTGTCTTCCTCTGCTTGTTGCACCAGCTTCACAAAAGAGCCTTTTGTTTTAACCACATTAACGTCTACTATCACATGAATAACTTGATCTTCTCAATGCAGCACTCTTCATCCATGTTTTTTAAAATAATGATCCACAAGTCTGTTCACATTTGTCATCACTCATCCCTGCTCCACCTTTGAACCCCTAAGCATACATGTTATTCTTTGACAACAGCCACATTTCATTCTCAATTTTGTATTCTCTAGACTTTCCAGTCTCTTCCTGTTCAGTTCTCTATCACTTTCTTTCCTGATTCTGGCCGATTCAGCCTTCTATTTGTGGCACATAACTATATTCTCTTTCTAGCACCTTCAGTATCCTAACTCACTTTTCTTTATGCTTCATCCTTTCCAAAAACCATTTAACTTGGATTAGTATCTGTCCATATGCAGGCTGCTGAGCGCTGCTACCGAAACTTCAGATACAGTGTACAGTGTACACTTCAGATACGGTTCAGATACAGTGGATGGGCCCTGAGCACTGCTCCTGTATTCCATAGTGATGTTCTTCACTCTTTCTTGAAGACTCCATTCTGTCACTGACTCCCCTTTTCCTTAGCAGAGCACCTTACGTTTTACTTCATAGAGAAAATTCAAGCTGTGAGATATGACCACTTGAAAATTCCTGTCCTTCTCTCTCATCTACAAATTTGTTTGAAGCCATCTTCGTCATCTTTGTTCTAATATAAAAGTTGACCTTATGAAATTGAAAGCTCATCCCTAGACCTGTGTACTGATTCTGTCTGTTCTCCTCTCTTTAGAGACCTCCTCCAGGGGGTCTTCCCTTGTTCTTCTGTCTTTTCATCTTTTCATCTCTTCTTACTCTGTTTGCCAGCCTACAATTGGGACTCCTTTGAAGGCACCAGGACTGATCTGAGCAATTGTTTGGCTTCTATTATAACCAGTTCTCTGGATTGTAGGATTGTTAAAGGAAAAAAAAGTACTAGATCTGGAAATGAGGTTAAAATTAGCAAGTAGAGAAGAATCTGGCAGGGACTCTGATTTAGTCATCTTTCTGTCTATCTGCTGTGTATATACCTGGACATAATTTATCACTAAATGCTGGAAGGAAGAAAGGGAGAAAGTCTATTAGTGATCTTAGAACAGTATAGAAATGCTCTGAAGTTTGTTGTATAATTGCATGGCTGTGATAATTTACCACTTCATGTACTTTTCAGTACTGTTTCCTTTAAATTATTTTTAAAAGGACAGGGACTTTAAACTTGCCATGAATGGTAGCCTATATTACACTATGTAAGTACACTTAATAACTATGCTGTGAGTTTATAATGATAAATATATCAGTGGTACTATAATTAATACTCTTTAAAACAATTTTACATGAATTATTGCAATTTTCTTGCATGGTTATTCATATATTAATAACTGGTCATAAAAACTGATGAAAAACTGGTCGTCAAAACTGAACACTTTTCTACTGTGTAATTTTCTTAAAAGCTTTATAAGGCATTTAACCTTAATTGTAGTGATAAAATACCCTCCTAACCCTCAAGATAATGTTCAGGACTGACCATAGCTTACCTTTCATCCTTCCAACCAGGGAATATGCACTATTTCTTCCACAACCACTTGGGGATACTTTTTACATTGTTTTATTTTCCTGGCTTAATATTTTTTTAAATTATAAATATATATAGATATCCATCTCCCTGAGGTAACCTTTAATATTTGGGATTTGCTTTTCATCTATTCAAGGGCCCGATAGATCCCTTGTTTTCATCTGTGCCTTCTCTGTTTCACAAGTACATATCCAGAGCAGCTTGTGATACTTGGAGAGCAATGTAACTACCTATTTGGAAAACAAAGGATGGGAAACTGGGTGGGCAGGGAAAATTAGAAGCACTATTTGCAAGGATCTGTGAAAATGGCACCTTTTGGTTTCTTAAGAAAGCATAATGATCAGACTCAATCCAAACAGGTATACAGCAGGTTGAGCCCAGATCCAGCTATAGTTTAAGATTTTAGGGTCTTGCATTTTGAGGCATAGTTTATGGGAAAAGAGAACAAACTATTGAGGGTGTCATATATCATGCCAGTTTATTACAGGGGTTCTGTGCAAATAAGGTAAGACTGACTTGGGTCAAAGGTAGCATTCATTTATTCAGTCATTCATTCAGTCAAAAATATAATAAGCAGCTACTTTATTCTAGACCCTGTGTGAAGTACTGGAGATATCAGGATTAGTAAGTAGATACAATAACTGCCTCACAGATCTTATCTTCATTCATTTATCATTTTATCAATAAAAGTTCTATAAATGTAAGCTGGGCACAGTGGCATGTGTCTATAGTTCCAGTGACTCAGGAGACTAAGGCAAGAGGATCGCTTGAGCCCAAGAGTTCAAGTCCAGCCTGGGCAACAATGAGACCTCGCCTCTTAAAAAAAAGATAATTCCGCAAATGTGATTAATACTTTCCTGGTGCCAAACACTGTGTGAGGTTGCTGAATATAGAGTGGTAAACAAAATAGACATACATCTTGTTCTCCAGGAACTATCCTTACAACTTATCAGAAAGATAGAACTGAATAAACAACAGTAAGAGAAGAGTGATAAAGGAAGTACAGTATTATGGAAGCAAATAGCACTATTTAACCTAGAAGGGGTCAGAGAAGTGCTGCCTAAGCTGGGAACTTAGTAGGAATAAACCAGATGAGGATGAGACGAAAGAATGTATCAGACAGAAGGCAGACCAGAGTCTGATATCAAGAGTAAGTATTGTGTTATACCAAAGTTATTGAAATTTTGTAAAAAAAATTAATAAAAAGTAAGCATTGTGGTTTTCAAGTAACTAAAAGCAAAGCATAGATTGCAAGGAGGGGTGTTCAGGCTGGAGGGCAAGAGGGGCCAAATCATGATAATGTATTAAGGAATTATATTTTATCCTAAGGACAAAAGGTAACCATTGCAGCATTTTAAGAAGGAAAGTCAGATTATGTTTTAAAGGGACTGTTTTAGCTGCAGTATGGAGAGAGTCTTAGTCTACTTTGTGGCAAAAGGTTTAAGACTCCTCTGAATACTCTTAATTTAGAGCTATAGATCCCCTAGGTATCCAAGGAACCTGAGCCACAGAGAGTCTTGCAGGCAGCCTTGCATTCACTCTCTGGTTTCTGTAAGATCCTTTAGAGCAAAGATCTTAAAAAAAAAATTCCACTATATTTCCAATACCTATATACTGTCTGCTGAATGAATGAATGAACAAAGGAATTAACAAATGAATGGACTGGACAGATTACTCTCTTTGGGGAACTTAGAATTATTTCCCTGGCTTCAAATTTTTCTGTCTTTTCTTCAGAAATAACATCTTCAAAGAGTTTCTTGTGTTCCTGATTTCCACTCTGTGTTTTCCCTTTGGCTTGTAGCGTATCCCTTACAGCAGTATATTCTGATTCTTCTGTGATGATCATTCTAAATTCTAGCGTGTTCTCTACCCTGTTTGTAAATCTTACATTGTCAGCTTTGGTTTGGTTCCTTTATCCTAGTTTTCTCAACTACTCATAGTTGGATCCCTTGACCGTACACCTGTAATTTTTATTCCAGCCTTGCTCATGTGTTGATTTCTATATCCAAGCCAGGATATAGAGAGAGATCTTTATCACCATCAGCTAGTTATACTTGGTTATGCTAAATAGACCCAATATTCTAAGAAATGTTTAATGGACTCCTAAATATCTCCCCCATTATGCTTCCATTGGAAAGCAAACTTGGAGTGCTGTGTGTTAAATTAGCATTAAGGTTTGCCATTAATACTTACAGTTCATTTTAAACTTCTGCTTCAGTTTCATGTCTTTAGTTTTAAGATCCACAGTGACGACTTGAACTCCACTCAGTTTTTTTGCTGAACTCAAGCCAGTGGCTGGTACGTTGCTCTACTACCAAATCCTGCCACCCTTCATTCTTATGACAGAATTTTGTTGTTTATATCAACTATTAAGCACCTTGAAGTTTGGGGAGATCTAAGCAATAAATAGCATTAATTATTGTTATTAGTAAATACCACTTAGCATGACATATAGACTATCATTAAAGCTTATCAGGAAAATAGACAACTAAATAAGCAATAACAACAAATCATTAAAGGAAGTATTTGAGCAAATAGCAGAAGTACTACAATCTAGAACCACTTAGTGTTATCCCCTGTTCCCCAGCGGGTAGTTCAGTCTAAAATTTTTGGAATCATTGTTTACTTCTCTCCTCTCACACTTTATATCCAGTCTACCAGAAAGTCATATTTTCTCTGCATTCAAAATACATTGAGGTACCTTTTACTATCCGTACTACCACTACCTCGATTGAAGTCATTGTGAATGCAGCCACTATCTAACTAGAGTCCTGCTTCCACCCTTGTTCCCATTCTTATTGGTTCTCAACCACACAATCTCAAATGTTCTGGTGTTAAAGCACAGCTCAGATTACATCACTCTTCTCTTGGAAATATCCCCATGACTAGTCATCTTGAGTATCAAAATCCTTACACATCCTACAAGTTTCTTTAAGGTGAAGCCCCATTATCTCTCTGCTTTTCGTTCCCAGTTTTCTACCTCATTTACTCTGTTCTAGCCATACTGGTCTTGCTTTTCAGTGAACAAACCCAGCTCGCTCCCTCTCATGGCCTTTACCCTTGCTGCTTCCTCTCCTTGGAATGCTCTCCCCGGGATATGTGCAAGGAAGCTTCCTTACCTCCTTCAGGTCTTTGCTCAAATGTCACTTTTTCAGTGAGGCCTTCCCTGACCATCCTGTTTCGAATGTAACCCCCGCACTCCCCCCTCCAATACTTCTTACTCTCTTTTCCATCTTTATTTTTCTCTGTGGCCTATATCTTAGTCTAATACTCTGTATATTATAATCTATTTATTTTTAAAAGTTTCTATGTATTCTGCCACTAAAAAGAAAGCTTCATAAGGGCAGAGATTTTTGTCTGTTTACTGCCCCATCCAAGCATGTAGACAGTAACTTGTACAAATAGGCTTTTCAGTAAATATTTGTTGAATAAATAAATGACTCCAATCATAAGGTTATTTACTCTCAAGCAAATTGGCATAAATCTCTTTTTTCCAATCATCAAGATTTAGCTTCCTGAGATATATTCTGTAGTATTTCATTATCTATTTTGAGATTTTTGGCTTCTATCTAAATCTACCCATAAATATTATGGTTTAACTTTATATTTCCACAATCTATCATTTGAAGTGTTTTATTTTTCTTAAGATCTCAAATGTAAAAAGCAATTTATTATAATTACATTGTTAGGTTTTCACTCATTTTTTGAGGTGTCTTACTGTATTTTGGAAGGTTCTGCTACCATATTCTGCATTTCTGGAAGAGTGTATTATTTTCCTAACTCATCTTAGTAACTTTCCTAGTCCTTGGTACGGTGTTTCACACACAGCAAGTACTCAGTAAAATTATTCATAGAAGACTTATATAAATAAACAAAGTTGAAAAAGTCTATATGTGGCTTTAAAACCTCCAGCATCCCCATTTTTGTATATTATACCCAGAAGAGAAACCTGTGGATGTTTTTTATTCATATATATGAATAAGTATATATTTATCAGTTTATTCATTCGGTGAATATTTATTGAGCTTCTATTATATGCCAGCCACTGTTCTTAAGTCGTAGAAATACACTGTAGTGAGAAAACATGAAATTCCTGTGAACAGGAATTACTGCATTTTAGTGAAGGAGATAGATAGCAAACAAATAAATATGTTAATATTAGAATTACATCAAAATCTTGAAATTAAAGATTAATATATGGCCAAGCTTTAAGTTGGGTTATCACCATCACAGTATGAACTTAGGGTATATATCTGAAATTTTATTCAGAAAAATAAAGCTTTTACTATAGCAATAGTATTACAAAATGTTGAGTCAAATTTTGCACAGGGACAGTAATTTCTCAGCAGTAACAGCTGATAAATCCTTCGTATGGCCAACTATCTTGCACATTTGGAATACTAAACAGTACTCTATGGTCTACAATGATATGCAGTTTTACAGAAGCAATCTTACAAAACATGCTATTTGTACTGCTTGCAGAAGATAAATCTTGGTTCTAGAAATTTGACAGTATAGCAACATAATTGGCTTTGAAGATAACAAAATCTTTCCCGAATTTCTATCTGCATTGCACCTTTCATCACATGCATACCAATTTTAGCAGCTTCCTGGAGTAGAATAAGAGTATCTTTACAGCAGAAAACATGCAGAGAATAAACTCTTATGACAAATTTGGTTTCTTGAAGAATCAGCAAGGTCCAGCAAACAATTTTTCCCTGCATGTAACCAGTGATTGTTAGTAATATCTCCTATGCTGGTACCCTTACTTGCAAAATATCATTTCAATGCTTCCCTTGATTTATGAGCCCTTTTTTTTTTTTTGCCATTTAAAGGCTTCTCTTAATCTTGTTTGAACATACGTTATTAATATATAACAAAAGAGTTGCTAAATGTCTTGTATGCCATATACTTTTATTTTTGGTAAAGAAGAAGAAATGATTGACAGTTTTTCTGCTGTTGTCAATAAATCCCAGCTATCAAAATTTTTTATTATTTCTGAAGATACAATGGAAGGTTGTGAACAAAACATTGTGTACTTGTGATTCCTAAATCAATCATAGCCTTCACCACATTTGTTCCACTGTCAATAATTGCATTATGCTTTATTTGCTGATTTTCCATTCTCTATTATCTATCAGCTTTACTTTGTTGTTAGCTATTTGCAACTGGAAATCTCTTCACAAGCAAGGAAAGTAGTGATTGGTTTTATTGTTAATTTATATGTTATCACACTTTAAAAGGACTTTGGGCTGTATATTATATTATTTATCTATTTGTCTGTTATACATAATATTGAAGTAGACTATTGAGTGTTTGGCTTAATACTACCAATAATACTAACTGTTGTATACAATAAAAATAATTTAAGAAAATATTTTTTAGTAATATATATTCTAGAAAGAATCTTGAACATAAGACTCATAGCTTAGCAAGCCTCAGAACTCCTTTTACTTCATCTCCTGAAAATTATTGGTAATCTATGTCAGTGATTTTGACAAGTTTTTTTTTTAACCTCCATAGATTCAAAACCTCAACAGGAAATTGTTCCTAAATATTATTTTTGATGTCTGCAGTTCTGAAATTTGATAAGTGAGAAAATATTATGTGTACCTAGTTTTTATTTTTTTCTCTCCTTTGTCTTTTATTTTTATGTCTGGATTGAAGATGATTTATATTGGATATTTTTAAAATATTTGACTTTTTCTCCTTGAGAAATTTTGAGATAGCAAAGTTGTTATTCCATTATTATTTGGTCCTCACAAAATGGGAAATATTTCCACATAACTCTTCCTCTTAAAAGACTCATGGAACAAAGTAACTTACGATTAAATTTTGTTACATGTTATTTAATTTTGAAAATGTCAGTATATTGAATAATTCCTCAAAGATCTGGATTTCAGGACTGTCTTGATACATATATTTTTGTATTAGTTAAATTTTTATTAATATTTCTTGACTAAAATGTTTCCAGCTTTTTAATATTTATCTTGCTATTATAATCTAATATTTATATTAATTATCAATCTATTTCTTGAACCATAAGTTCTGAAATCTTTAACATAAAAATAACAATTTTTATAATAATTATTCTTTAAATTCTTCTCTTGCTATACTAAACACATAGTAATGATTCAGACTAAGATAATTTCAACCTATAGAGCACATAAGGGGTTTTCATTCAAGTAGCATATAGTGAATATTTTTAAATAAATCTAAATGTCATGCCTTGTTGACAGTACTAACATTGTTACACTTATTAAATAAGGTAGTAACATCTGTCCTTATACAAATATTAATATTATATATTTCCGGGATGTCAGAACAGTGTTAAAGTAAGCATCTGTTTGTTAAGCCTACCAGAAGGTAAAAGGCAAATAACAGATCCTGGCCAAATATTGAAAATGAATTAAACTTTATTTCTAATACATATAAGGATGCTGTAAAGCAAAATGATGTAGATTAAGGGGGCTAGAGACAAGTGGGTTGGGGAAGGTAACACTTTAGTATGTATGGTCAGGGAAAGCCTGTCTTTGGAGGTGATATTTAAACAGAGACTTGAATAAAGTAAGAGAGCAAACCTTAAAATGTATCTGAGGGAAAAACAAATCCAGGTAGAGAGATCAGTAAGTACAGAATCTCTGAGACAGGAATGTGCTTTGCTTGTTCAAGGAATGAAAGTTTTACTGGAAATAAGGTTGAATGGGTGGCCAAGGACCATTATGTATGAGTCCATGTAGGCTTGGTAAGAAATTTAAATTTAGTCTGAGTACATGGGAGGTCAGTAGAAGATTGAGAGCAAAAGATTAAAAGGTGATTCCGCTGGTATATGAATAAGCTATAGGGAGGAAAAATAGGAGCAGCCTGACCAGTTAAGAGGTTATTGCTTTCAAAAAGCATACAAGTAGTTGCATCTCTTCTCAAATACCGAATGAATAAATACATTTTGTACATTCAAATAAATAATGCCTGTAAAATTCACTTTCTGCTTTCAAATATCTTGATGGAATGTAATGATTTCATAAAAACGAACTAGTTGAGGAAATTATCTTCAAGATTATGGATAGTCACATAAATATTTGAAAGACTTTATTTTTCATTCTGCAGATGTTTCAGCATTTAGTATATGAAACTATCTTTGTATAGACCTATATTTGCTATTATCTATGGACATTTGGGGCTTCTTTCTATGCCCATCTTAAAGTATGATTTTATTCTGGGATTATCTTTATATATTCTTTTTAATCTCTTTTTACTTATGTAGAGATTTGAATATTAATGTGAGTAAACAACTGACTTGCTTCGGAAAAAAAGAGGTTATTGCAGTAATCCAAGTGAGGTTATGATGGACTAGGGTGGTAGCTGTGTATTATGGACTAGGGTGGTGGCTGTGGAGGTGGAGGCTTCTTAAAGAAGTGGTCATATTTTCATATTAAACTTGTGGATTTGGCTATGGGGCATGGGAGAGAGATATCAAACGTGATTTCAAAGTTTTGTTGTTGTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCTCGATCTCAGCTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGCAGCTGGGACTACAGGCGCACACCATCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTCCAAACTGCTGGAATTACAGGTGTGAGCCACCGTGCGCGGCCCTTGATTTCAAAGTTTTGTCCTAAGCAGTTGGTTAAGTGGTTTAGTGAGTTGAAGGATACTGACAATATGGTAATAGAGCAGAGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTAGGGAGGAGGGGAGTGGTCTTGCAAATTAAAAGTTCTAATTTGAACATGATAAGTTTAGATGTCTTTTAGACATCTTGGTGGAAATGTCAGAGAAGTAATTGATGAGAAAGCTACTGGAATTGGAAATAGAAAATTAGCAATTATCAGCATATCAACATAGTGTTTAAAACCATAGGAATGGCCAAGTATCTGGCACTGGTGCACTTCAATATTGAGATGTTTAGAAAAGGAAAAGTTGTCCATCATTAAAACCAAGAAATAGTAGTTAGGTATATAGAAGAAAGCCTGGGAGGCTGTAGTGATCAAGAAGCCAAGAGAATAAAGTGTTCTTAAAGGTCAGAATTATCAACTATGTCAAATGCTGTAAGTGAGGTTAGAGAAAAATCATGTTTGGCAACATGGAAGACGTTGGTGATCTTGAGGAGATGTTTTGTGAAGTTCTAAAGAATGAAAGCCTGGTCATATGAGTTTAAAAAAGAATAAGGGGTGAAGTTGAGACAGCAAATATAGACAGTTTTTTCAGGGAGTTGTGTTATGAAGTAACACAGATGAATAGAGTGAGACTGACAGGGAGAAGAGCCAAAGGAATTTTTTTGGTTTGGTTTTGTTTTTTAATATAGGGGATTTTTGACCATATCTGTGTTCACTATAAATTTTTAAATTGATGGTACAAGAAAAAGGAAATGATTTTAGGAGTAAAGTTCTTAAAAAGGCAAGAGGAAATAGGGCCCAATGCACATGTGGAAAGATAGGCCTTAAATAGGAGCTTGAACTATTCACAAAATAAGTTATAGTTATAAATTATTATTAATAATTAAGAGGAGACCTATAAGTAGGTGGACATTATAAATTCCTGTTTTGCCACACTAAAAATTAAATACTGTGCCAAAAAGTAATTTTTAATAATCTTGTTTCCCATAGTGGTTCAGGTTCTGCATGAACACCATCAGGGTTTTTAGCCCATGTAACTCAACTCATTTCTCTATTTAGAAAAGTCAGGGAAATGGTAAATAAAAAACAAAGAATGAAATTGTATTACCTGAGATTTCCTCCACAAGGTGATAAAAATATATCACAAAGTTCTACTGAAAAATGGTACTTTTTTATATCAAATATTGAGCCTAGAAACCCAGGTTTATAAGTTTAATTTAAAAAATACCAAATCTATGGATGGAAACTCCAGTACTCTAATAGGTGGCTATATTAAGGATGGGGAAGAGTAAGATTTCCTTTTTTAACAGTAAGGTAGGGTATATTCTCTTTCTAGACAAGACTATGTCTATTAACTTAATAAAGTTAAACAAGGTAAAAAATCAACCCAGTGGAAATAGAGCTGTGGGGCCTAAAATCTTCCTCAAATCCTTTGTACAGCTTGAGACTTTTCAGTACGCTACACAATGTGGGAAACCATTAACATAACCCAGTCAAAAAGTGGTTACGATTTTAAAAGTTAGAGTCATTGACTTCAATTTACAGACTTGGAAGAAGCAAGCCTTCCAAGTATCCATCATGCCATTACCACATTCATCAAATTCATAGAAGTTACTTTGTCCCAGAATCTGCATCCATCACTAGACAGCATGGCTAAACTTTGTTCTATTTGAGAGGTTTATTATAACTAAGTTTTTTAAGGCATTGGAAATGTGTAACATGCTTTAAATTTTATAAGCACTTGGGTTTACTACTAATGTTTTGTTTCTTGTGGGTATCTCATTAATTCGGGTAAAGTTGTTTTGTTTCTTCTCTGTTTTGTTAATTCAAGATTTGAGTTTTGGGGTTTTTTAATGTTTTGTCCAATATTTTTACCAGATATTGTTGACATCCAAATAATAACCAACAAGGTAGGACCCAAAATACTAGGATTTTTTTTATGTTATTTGCAACTCTCTGATAAATATTGAAAGAAAAAGGCTTAGTCTTTTAAGATACCTAAGACATAATTATAAAGGATGATTAACAAGTGGCAGGTCACTTTTAGCATTTGAAAATTCTTCAGAAATTTTTTCCACCTTATTGGATGCAGGTTCTATGCTTACTATGCCAAGGATTAAAGGGGGAAGAAAATAATAACTTTCGGTAGAAAAATTAGGATATTACGTTTAAGGATAATAGTAAGCAAATCGGGGGAGGTTGGGGAGGAGCTTACTACATTATCTACAGTGCTTTTTACTGGAATGAATGTGGGTGATCATGTGTGTGTATGTTCTTCCACAATACTGTTTAACAACATCATGTTCTGTGTATAAATTAGTGTGTGGAGAGATTTCCTATTTAACTTAAAACTGTTTCTAAAAAGATACCTCTTCCACAGGAAAATCTTATCCCATTTCTCTGTGGCTCCAGATCTGCTAGTTCTGACATTTATATTCTACAAAATGGTTAGAATCTTCAGGGAAATTTAGAATAAGTAAAGGTTAAAATACCATAAAAACAAAGTCCTAAGTCAAACTATTTCTGTGCCTTAGGAGGGGAAATGCAAATAGTTAAGAAGTGTTATCCAGCCTACAAGGGAACTCAATCCACAGTAGAAGAGGGTAGGGCAGAGAGAGATTTCTTATAGTCAGCTTTCAGCAATATCTTTAAATCTGGAGATAAGAAATGCCAGAAACATCAGAATTTCTTTATAAGTTTATCATGTTAAAGCCCTTCTCAAAGCCAGTACTTACCTGTTTCTTGGTTAAGGTTACTTAAAAACATGAACATGGGGACATGAAAATTTAAGTTTCTTAGAAGTTTTACTTTGAAAAACTCTCAGAAAAGCAACACAATGAAGTCATTACTTTAGGAAAATGTTAGCCAAATTCCAGGTATAAAACTATAGGTATTGATTTAAATTGATCAAAGATTCTTTTTTTTCCTTTGTTTCTTAATTCCTACTAGTAGCATGTAGAGCTGTAGATATAAAGGTAAAATATTTAAAAATTTGTTGTGTTAAAACTGGTAGAAATAGGAAAGACGTTTCTGATATGGTGGCATGTGAACAGAGACCTAAAGGAGGTAAGGGAATAGCCTATACAGGTAAATGTCTGGTAGAAGAGAGTTTCAGGCAGAGGGAACAGCAAGTGCCATGGCCTGAGGCAAAAAGGGTTTTTTGAGAAAGGGCGGCAAGTGTGCCTGAAGGAAACAAGACAGAAAAAGGTGTCCAGAGAAGTCAGAAGTTAGGTAGTGAGGGGCAATGGGTTTAGAATTCAGGCAGGAACAGACAATGCAGGCGTTGTCTGCTATCAAAAGGACACTGACTTCTGTGAGTGAGATGGGATAACTCTGGGCAACTTTTGAAGACTAGACTGTATGCAGGAAGGAAGGCCAACAGTTAGGATTTATATTTGTGCTTGCCTTTGGATCTTCAAAATATCTTCCTCAAATTATTTTTAACACATGTATTAATTGTATTTAACTATTCATGGAAGCTCAGCAATGCCATCTAGTTTTCAAATTGATCCATTGTTTAAAGAATGAGGTCAAGAATTGTCTTACACTCAACCACGTAATCAATAAGCCAAGAGTGTTATTCATACCAAGTCACACATTGAACTTTATATTAATCAAATCTTCTCTATACATGTGGTAATTATTAAGTTTAGAAATTATTCATTTTCATTATTATTCTTAATTAGAATATTGTTTAATTAAAAAATAATGATCTTACTGAAAGCATGTTAGAGCCATAATTTTACTCATTGAATTCCATTTTGCTCAGCCTAAAACACTGAAATGTTTACCTACAAAATATGGCAATTTATAAGCTAATTTTCTTCTACCTAATACATATAATTAGGTAGCATTTTTACAAATTGATAGGTATTTTAAAGTCACCAATTAAAAGGCAAAACTTGTCAGATTGGATAAAACAAGACCCAACTATGATGGCCATAAGGCATCATGGCATTGCACTTTAAATATAAATACACAAATAAGTTAAAAGGAAAATGATAGAAAAAGATGTATCATGCTAACACTAGCCAAAAGAAAGCTGGTGTAGCTATATTAAATATTGAGCAAAATAGGTGTCCCAGCAAAGTTACTAACCAGAGATAACAAAGATTATTTTATAATGATACAGAGATCAAGTCATCAAAAGAACATAACAAAACCAAACTTTTACACACCTAATAACAGAGTTTGAAAATAAATGAAGCAAAACACTGAGAACTGCAAAGAGAAATAGATAAATCCAGAATTAAAGTTGGAGATTTCAACATACGCCTCTCAGTAACTGAAAGGATAAATAGATAGCAGATCAGTAAAGATATAAAAGACTTGAGTAACACTATTAGCCAGATTAATATTTATAGAACATTAACAAAAGCAGAATGCGCATTCAAGTGCGCACAGGGTGTTTACAGTGGTAGGTCACATTCTGTGCCATACAGCTAGTCTAAATAAATCTAACAGAATTCAAACCACACAAAGTATGCTTTCTCACCACAATGGAATTAAGTTAGAAACCGGTAACAAAGATTTATTGAAAATCCTAAAATATTTGGAAATAAAATAAATACTTGTAAATAACCCATGGGTCAAAGAAGATATCAAAAATAAAGTTGGAAATTAATTTAATTGAATAAAAATTAAAACACAATACATTAAAATGTGGACATGGCACATTGAGAAGAATGATCGCTTAAATTACTTATTTGCATTAAACACTTTTGCCAAGGAACACAGTGCATTAAAACAAAGTAAAATGGCATCAGTTTATAAATAACATTGTCTTTTACATTATAGAATTGCAATTATATGTGAATGAAGATATTCATTAATAGGCTATAGGCTAGACAGACCCACTGGAATATTTTGATATTTTCCCCATATTTTTCTATGTATTTAAATAATGTTTTTATATAATTAGGTTCATACTGTGTATACATTTTTGCATTCTGATAAATACGTTAGGTCCTAAACAGTTTCCAATGATATTAAATATGTTTCCAATACCAGTTATTGGCTGTGTAATTTTGTAGTGATATGCCATAATTTAATCAGCTAATTTCCTAAACATTTTCCAATTATATTAGATATTTTTCCAATACCAGTTTTTATTGGCTGTGTAATTTTGTAGTGATATATAGAGATAGGTTTTTAGCCCAACAGAATAGCAGGAGAAATGTAGTGCTATGCCATAATTTAATCAGCTAATTTCTAATTATGCTTCTAATTTGTTATAATTTTGAATGAGCAAGCCATGTATAATAATGTCTTCATTATTCCCTTAATTTGCATTCCAAGAAATGAATCACTGAGTAAAAGGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTATCACCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGGCTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCACGATCCCCAAACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAGGCTTGTATATTTTTAAAGCCTTGACACATTTTATCACATTGTTTTATCACAGTGTACCAGTATATACTCCTACCAAAATTTTGTCCATGTTGCAACCCTTAGCAACATTTAATCGTTATCATTTCTCCTGCTATTCTGTTGGGCTAAAAACCTATCTCAGTTTTACATAACTTTTGAAGATGATATCTTGTTTCTATAATTATGTAAACAATTTGCCACTTTGTTAATGTTATTAACTCATTTTCATATTTGTGGTAAATGTGTTTTTCCAATTTAGTTTTAATGGTATATATATAGATATAAAATCTTGTATAATATAGCCTATATTTCTTTTATCTTTTTAATGAAAGTCCACCATTCTGTAATCAGATGTATAATCTCACCCCTTTTTTTCCTCATGTGAATTTTTTTCCTCCATTATGGAATAAAATTTTACTCTGAATGGTAAGTAGCACAGTTTTAGGTTAGAATGTGAACTGAAGATTGAATTTTTTTCCAAAACAATAGTTTTTCCCCAGCATAATTGATTGAATAATGTTTTTATTCCTCAGTGACCTTATAATAGGTTAAATTCTAACATTTTTACTTGATTATGATCAGAGGCTCAGTTTCTTCCTGGTGTGTGGATACGCATTTCATAAATGTTTGCAAAAACTTTAAAGGAATTTTTCCTCCATAGGGTATCACTGATACATTTGAATCACTTAATTTTTTTTTTTGGATCTCATGCTTTTGGCCCTTTGGGATTTTCATAAAGTTGTTTTCATGCACATTTAATTTTGTCACAATAATTATATAGATTTAATTCTATGTTTAACTGATTTCATTGCTTATAGCCAATAGGATTAGCCTCTGACTTCTATATCCCTAAAAATATTAGTGTTAATTAATATGTAAAAGATATGGAAAACTTTTTTTTTTTAGAAAGAGATACAGACATGTATGTGTTCTGAACTCTCGCCTATGTAAAAATGATACCTGCTTGTATTACAATTTACTGATAAGTTACCTAGATAATATTCTAGGATAGCCTTTTACCTTCAAAATTCTGTATATTTTGGTCCATAAAGGAGTGGAACTCTTATGACATACTATTTATTTCTTACATAGTTTTCCACTTACTATCATTTTTCACAGTTATTTTTGTATGTCTCATCTCCTCTAAATAAGCTGTTTGCATTCAGTAAATGCTTCTGAGTAAATGAATGTAATTTGAATTCGTAAATCCTACTACATAATCAACATTTTAAAAATAAAATATTGCAATATCATATCACTTTTGAAAATCATTTATGTTATAATAATGGAGGTAAACTCGATAATCTTTATCATTCATTCCAGTTTAGAAGTTTTACTGCCTGTGATTCTAAGTGTTTGTGCGTGTATAATATTCAAGAAATTGCCTAGCCCATTTAGCTGTTCAATTCTATTAGCTATTTATTCACTTACTTCCATGTTATATCCGTTATATGCCATTTGAAGAATTATGAGTATATAGTCTCATAGTCATAGAAGGGACTAGAGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAACACATTTGCATTAGTCTACCTTTAAGCTTAATAGCTTAACAAGTTATTTTTTCCATAGATTAATAACATTTTTACTAAAAGAGCTTTCCCTTCTTGACAAATTATATTATTCAAACAAGTGAAAATCTGATTATCAGCCATGTTAGTTTAGACATATATATATATATATATATATATATACACACATTCATTACTGGCAACAACTCTTCAGGACATTTGAATTCAAAATTAATTTTACAGCATTAATGAAATAGTAGTATAGTTGGAAATACTTATTAAATGACTGTTTTAAAATAACTGTTATAAAATAACAGGAATAAATATTAACTATAATAAAGATACAGTTAAGTATAATTTGTTGATTATGTTTAGCTAGCGAAAGAAATTAGCAGATAATTTAATAAAAATTATTTGATAGGGAATAAATATGCTATGTATAATATTATTTAATTGAAAATACTTTATGAAGCGCTATCATTGTAAAGGATATAGCCAAGAGAAATAATTATGCTTCGCTAAGAAGATCTTTTAAAAGTCTTTTCTGTTTATACAAAACATATTATTCATTGGTAGAGGAACATAGGAACATTTCTGAGTACTATTCAAATGCATTAAGATGTTAATGCAAACACAGCTTTAGAGATTTTAATTTCTTCTATTCTAGACCTGGCTAAGAGATGTAAATGCTTGGGTAAATAATAGGGTGTTACAGTACATGAAACACATCCTTTCTATGACAGTAATAAATTAAATGAACACATATTTTTCTAGGCTGTTTATAAATCATGCAAAATGAATTACTGAGTAAATGAGGATTCTGTACGTTTTTAATCGCTGACATTACTATAGTACCATCTCTGTGCACCAGCTGAACTAATAGCTTACTGATGATTTCTGAATCAGTCTATCTCTTAAAGGATATTATCACCTGCAGGAAATATTACAGAGAAACAAGTCACTTAAAACTACCTGAGTTTAATAACTTCCTGGTTCCAGCAGCTTATTTGACCTTGAGCAAGACCCTTAACCTCACTGGGCCTCCACTTCCTCATTTGTAAAGTGGGGATACTAATACTAACTTGCAGGGTCATGGTAAGTGTAAATTTGGTTAATACATGGAAAGCATATAGTAAGTGTTACACAGACTTTCTGTTGTTTTTGTTATCTGTTCCAAATGGCAATTTTTAAAAAATGCTTATGAAATATACTTTATATTGATATGTATTTCTCCAAATGGAATATGAGTTGATTATTTAAAAACACCTTTTAACACAAAATTATTTCTTCTTGGACATTGCCCTCCACTGTTGTAAGATGGCATATTCACCATCAAATCTGGAACTGGAACCCTTATTCAGTTCACATTGCCAAGAGAACTTTTTAGTTAGGCCTGGATGCTCAGTATTTCGTCAGCACACTACAAGTGCTGGCCCAAAATGGGGTGCTGTACATTAGGTTAATTTTCACCTTTTGGACTTTTTATTTTGAGCAGATTTTTACCAACAAACAATTGTGCAAGGAATCGTATTTAAGATGGATGGATATTATGCCAAATTGCAATGCCAGACTTTACAATGTAAAATGGAAATGTTATATATATATTTTCTAGCTACCATTTCAGAGCATTTGGAAGCTGAATTACTTTCTTATTGAAAATGACTTAAGTCTTTAATTGACTTATAAGTGTGTGTGTATTTATATGTTCATATTTCCCCCCCTCTAGAACTGGGTAGATAAAGCTGAAAAACAGGCTCTTCTCTCTGAAACACTTGACCTATCAGAACTTTTCCATCCAGACACATTTCTTAATGCTCTTCGCCAGGAAACTGCAAGGTAATTAAAATGAAATACTTTACCTATTTGTCCCTGACGGTAATTAGTTTTGCTTTATTGACTTCCTATTACACTGCCCTTGATTGTCAAGAAATAAATTTATTATTGAAACACAGTTATGTTATTTTCTTATTCTCTACTTTAAATCATACAGTTAACCTTTAGCTTAAAAAGCATTGCTTTTAATGATGATATGTTTTATTCAAATTTAAAAAGATAAAATGTAACTTTTATAATTTTGATCATTTATCTATACCTGTGCTGTCCACTATGGTAGCCAGAAGTCACATGGACCTATGTAAATGAATTAAAGTAAAAATCAGATTTGAAATTCAGTTTTTCAGTAACTCTAACCACATTTAAAGTGCTCAATATCCACATGGCTTGTGGCTACCATTTTGGACTGCATGAAAATATTTTTATCTTCGCAGAAAATTCTGCTGGACAGTGCTGACTAGGCTCCTTGGTGGAGAACAGGACTTGATGATTAAGATCAAGCTCCTTTTCTTACCACACTCAGATTATCATATCATATATAATTTTTAACAAGTTGGAATGTAATAAAAGGGACATTACTAAAAATATCCTCAACAAAATTTAGTTGTTTAGTAACTCTCAGGGGTATTTCAATTTGTATTGCTTCAGGCTATTATAAACATCAAATTTCAGTTCAGCTAATAAACATTTATTGAACACCCATCGTGTGCCTGCATTTGAGGGTCATGGTCAAAACAGGATTTAAAAATGAAAAAAAGAAAGGCCTTATCCTTAAGGAACTTACAGCATCAAAGAGGAGACTGACAGTTAGCTTTGAAAATTTAGTGTGAACTCTGACATATTATGCATAGTTTAATGGTATTATTATTTACACATGGTAAATATTTTAATTTTAAATAAATAGGACTATATCTTCAGTTACTCTTCATATTTTAATTCCTAAGGATTATTGATTTGTGACTTTGATGCTTTACCTTTACAGGGCAGTGGGTCGTTCTGTGGATAGCCTTAAATTTGTAGCCTCATGGAAAGGTCGACTGCAAGAAGCAAAGCTACAAATTAAGGTACTAGACTAATTTTAGATCTTGGAATCTCAGCCTTATCACCAACTGATATAAGAGATTCTGAAATTTTGATCTCAAAGTGACCTATCTTTATAGTGTAAGATCAGTAGAGTTAGATTGTATTATCTATGTGAAAAATCAAAATAAGATTTGGCATGAAACAACTTGTAATAGAAAATACAGACTCTTCTTATGCAAACATAAGAATCTTGGGGATACAATATTTGAAAGTGTAACTTTTAGCACAAATTTATACAAACCATGCAGTTCTTTTACCTTACCTGTTCTAAAATTGAACCTAATATTTACTGTACAATAAACTACATACAGGTTGAGCATCCAAACATCCCTAATCCAAAAATCCAAAACACCCCCAAATCTGAACCTTTTTGATTGCCAATGTGATACCACGTATTGTCGTATTTTGGTCCACATGGGTGGCCAAGATAGTGACACCTTTGCTTTCTGATGGTTCAGTGTGCGCAAACATTGTTTCATGCACAAAATTCTTTAAAATATTATATAAAATTACCTTTGGGGTATATGTATAAAATGTATATGAAACATAAGTGAATTTGGTGTTTAGACTTGGGTCCCATCCCCAAGATAGTTCATTTGTGTATGTGCAAATAGTCATGCACTGCATAACGATGTTTGTCAATGACAGGTTGCACATACTACAGTGGTTCCATAAAATTATAATGAAGCTGAAAAATTCATATTGCCCGGTGACGTCTTTTGTTCATTGTAACATTTTGGTGCACACATTAGTCCTGTGTTTGCAGTGATGCTAGTGTAAACAAATCTGCGCTGCCAGTTATATAAAAGTAAAGCACATATAATTATGTATAGTACATAATACTTGATAACCGTTCATGCTTTATGTATTTACTATATAATACCTTTTATCATTATTTTAGAGTGTACTCCTTCTAATTATATTCTTCAAAAAGTTAACTGTAAGACAGCCTCAGGCAGGTCCTTCAGGAGGTATACAAGAAGAAGGCATTGTAACCATAGGAGATGACAGCTTCACGCCTGTTACTGCCCCTAAAGACCTTCCAGTGCTGTAAGATGTGAAGGTGGAAGACTGATAATAATGATCCTGACCCTGTGGGAGGCCTAGGCTAATGTGTGCATCTGTGTCTTCATTTTTAACAAAAAAGTTTAAATAGTAAAAATTAAAATAAATTTTAAAAAGAAAAAACTTAAAAAATAATGATATAAAACTATTTTTATACTTTTTGACTCTTATAAATAACACTTAGCTTAAAACATAAACACATTGTACAGATACGCAAAAAATCAAAAGTATAAAGTAAAAAGTGTTTATGTTTAAAACACCTGGGTTCAAGTGATCCTTCTGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCTATTGCACTTGGCCTGACTATAGTTCTTTAATGCAGTTAACTTTATGCAACTAGCTTTTCAGAAATTCCATTCATATAGTTCTAGTTTCCTGCTCAAAACACTTTTTACTTTATACTTTTAATTTTTTTAACTTTTTGACTTTTATAAATAACACTTAGCTTAAAACATAAACACGAGATGTGTAAAAAATTAAAAGTATAAAATAAAAAGTTACAGTAAGCTAAGGTTAATTATTGAAGAAAATTATTTTTAACAAATTATTGAAGCCTAAGTGTACAGTGTTTATAAAGTCTACAGTAATATATAGTAGTGTCCTAGGCCTTCACATCATTCACCACTTATTCACTGACTCACCCAGAGCAACTTGCATTCTTTCAAACTCCATTCATGGTAAGTGCCCTGAACAGGTATAGGATTTTTTTTATCTTTTATACTCTCTTTACTGTATATTTTCTATGCATAGATACACTTACCATGTGTTCCAGTTGCCTACAGTATTCAGCACAATTACATGCTGTACAGATTTGTTTCCTAGGAGCAATAGGCTATAGCATCTAGCCTAGGTATGTAGTAGGCTATACCATCTAGGTTTGTTTAAGTACACTCTCATGTTCACACAGTGATGAAGTCACCTAATGATGCATTTCTCAGAATGTATTCCCATCATTAAGTGATGTATGACTGTATTCCAAAATTCAAAAAAAAATTCAAAATCAAAAACACTTTGTTCCCGAGCATTTCAGATAAGGGATACTCAACCTGTATATAGTATATAAAAATTAGTATATAAAAAATCTTGTCCTCAGGGAGTTTATAATTTGTGAGTACATTAGTTAACAGTTTAAAAAAAAAGCCACTTATGATGATCTATTTCTTTCGTAGTACAAATTTTTCTTAGCTCTTTTTCCTGTTAAAAATCCATTATTTTTACAATAACAGGTAATCATTCAAACATTAACAAAAATAATTTAAAAGTCTGTGATGGAAACTTTTTCCCCAGCAACCCCAACCTTTTTTTGTATCACTAGCCCCTCTTACACTATCATTCCTTGCCATTCCTCTTTCCCATTTCTTTACATAGAATTGCCCTCTTAACATTTTTTTCCAGTTAAAAACTTCAAGCTGGTCTCAAACTTCTGGGCTCAAGCAATCCACCTTCCTCGGCCTCCCAAAGCGACCAGATTACAGGCGTGAGCCATTGCATATGGCCTGGCTATAGTTCTTTAATGCAGTTAACTTTATACAACTAACTTATTAGAAATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTCCATTCATATAGTTCATTTCCTGCTCAAAAAATTTGTTTTCGTATTACTACTATTTTCTAACATACTGTCATTTATTTATATTTGTTGTCTTATTCTAGTAGAATGTAAGTCCCGCAAGAGTAGTAACAATAGCCGTTACATAATAAGCATTCGATCAAACCCTTTCTGAAGGGTTGAGCGCCTATAATAGGAGAGGCACTGTAGTAGGTGTTCCTAGCATCGGCTACAATGGTATAGTGTGCCAGAAATTTGATCATTACCAACAAGCTAGATCTTTCCCTTTTGGCTCTATAGACTGCCATAAAATTCTCACTTAAAGCTGAAGGAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAAAAAAAGCTGAAGGACTTAGAAAAGTTTTCTTTCATTTAATTTTGTCGTTTTGTTTTGTTGAGATGGGGTTTTGCTATGTGGCCCAGGGTGAATTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCTTCTTGAGTAGCTGGGATTACAGGCACATACCACCACACCCAGCTTCTTGACATTTTATTTTAACCTTAGCCCCTAGCTCATGAGAAGTACCTTGGCTATTACTGGTGGGTCATACACTGCTATCCAATTGTCAGGAGAGTGAGGGAACACAAAACATGTATATTTAGTCTCTGGCAGCTGTGAACCATGCATGTAATTATAGCATCATTTTTTAATTTAGGAGTATAATAAGCAAGGGAAACCAGTTTTATTGTGTCAAAATGTGTTCATATTTCCCAAAGTATATTGACCGTTCTTTCAAAATGGGAATAAAGTCGTGCACAACCAGAAAATCCCAAGCTTATATAATTGTTTTGTACATTGGGGCAGTGGGTGGGGTGGGGGGTGGGCTGCACTGACAGTAAAATAAGATTATAATATTAGTATCTGAAAAAGAGCTATGTGACATTTTTAAGCAATTAATGGGGCAGTCTGAGCCTTGGCTGTCACAGTTATGAGTAGACTTCAATAATAACTTCATTGACATGTTTATTATGAGGATCTCTGAAAATATATGTATAATCTGTATATATATAATGAATGTATATTTTTATATATACAATGAATATATATTTTCATATATATTCAGATTACATATATGATTAAGATTTATATAGTAGGAAATATTTGTTTCTTAGTTAGAAAACCAAGTATGTTTTCATATAAAGTTCTGTATATCCAGTGAGCAAAATTCTTTTATTTTTCATTTGGGATTCATTAAAAGATATTTTATTGTTAAGAATTAAAATATTCACTTGTAAATATTTAGTAACATAAATAAGCATGGTATAATGACTAGAAAATAATTGTCATTTTTGTTAGTAATGTATTTCCACATATACTTACAACTTTAATTTTAAAAGCCATCTCTACATATGAGATTTAAGATAACTCGACAGAACTTTTCCTCTCTCTGGTCCATTCATGTGAGCTATAAAAGCACATTTTCTAACTTTCTCGCCTGCAGTTTCCAATAATGTTACCAGGGAAGAAGTCTTTGTAAGGCTTTCACTGTTAGCACTTGGCAAAATTAGTAAGTTCATTTGTCCATTTAGGCTCCTTTTAATTATGTTTTTCAGCAGAGGGGATTGTTTCAATAGGAGAAATTTGGATTTGAATTATACTTGAATTTTACTATCACTATAATTTTATTAGTTTTTTTTAAAATCTCTATCACCATAGACTGAATTAAACAGTGAGGCTGTAGTTCTCCAAACCGATCAATATCTTAAACCCTTTAGACCTACTTGAGAGAACATATTTATGTATTGATTTTCAGTTCCTGAACATGGCCCTCTAAAATTCCTGCCATTATTGATCTATTATGTGTTAAATAGTACTTGAAAACTTGATATTGCAAAATACATAAATCAAGCTCCTGTTCAGCCTACATTTTACATCTTCCTCCAAGGCTGAGAGAGGATTGCCCTAGCAACACTTCGAGTGCTCAGTAGCCATATGCGGTATAGTATATACAGTAACCACATATGGCTGCTGAGCACATACGGGTACTATATTGTAGCTCTGCATGGAACGGTCAATTCCCTAGAAAATGTAAACATCCTTTGGTCTTCAAGGTTTTTTTTTTTTAATAATGTTTAATACTTTCTATTATTAAACATTTTAAACAAATACAGAAGAGAGAGTAGTAAAATGAGTCTGCATATTTCAAGGTTTTAAGATTTAGAAACATTCCACCTTTTTCTCTTTTTTCTTGCTAAAACACATTTCAGACATCATTTTATTTTACCCCTCTATGGTTCTGAATGTGTTTCTTTAAAAATATTTTTTTTCTTAAATATAATGTATTATCACAAATATCAAAATTAAAATTCCTTGGAATCATTTAATATTCAGTCCAAAACAATATTGACCAGTCTTCAAAAGAACTCTTTCCAGTGGTTTGTTTGAATCAGTGTCAAAATAATGAAATGAGATGCTAACATGGCATTTGGTGATGTGCCTTAAGTCTTTTTATATCTAAATCAGGTTCCACCTTTCATTTATTACCACTGTTACAGGAGTGGGGTCATTTCTCCTATAGAATGATGTACATTCTGTATTCATCTGCTTGCTTCCTTATGTTAGTAAACTTTTGTTCCTCTGTCTCTCATTCCTTATAAATATAAATTAATTCCAAAGATCTAATTACATTGATTTTTTTTTGTGTGGAGGGGCAACAAAAATACTTCATAAGTGGCACTGTGTTCTTCATTTTACATTGTATCATAAGGCACACACGTGTTGTTTTCTTGTTTTTAGTCATGCTAACATTGATTCATGTGTACAGGCAGTGACAGCCTCATTCCTCATGTAAAGTTTCTCATCAGTATTTCATCTAATAGATCATTGCTTGGATAACTACGGTTGCACACTGATTTTTCTAATTTTGTTATTCCTTCCACATTTATTAGCTAAAATTCTTCTGCAAAGAGGCTTCAATTAGGTCTATTTAGTTACCTGGATATTATGAAATACATTTTTTGTTGAAAATAAAGAATACCTAATTTTTTCATTTAAACTGGGAATATTCAAAAGATGCTGTTGATAGTTTCCAGCAGTGTCCAGTGACATTTTCTCTTTAAGTATCATTGTGAGCTTCTTGTATATCTAATGTTTCAGTAAATTGCATTTATTTTATTTTTCATGTGCAGTTGTCTCTGGTCTTTGGCATATATGTGACGCCTCTTAATGTTGACCTGTATATCTTTCTTTTTGCTTTTATGAGGAGGGGGTAAACCTTAATAGTGAAGTGTAGCGTCATACACAAAAATGTACAAATTTCAGAGTACAGCTTTATGAATTTTCAGTAAGTGAATAAACCTATGAAACAATCATGCAGATCAGTATAATATTTTATGGTGATTCGTTCTCAAAAATTATGTTTGCAGTTAAATGGACCTAACACATATAGTACAAACCTTATTTTTCTTTCAATATATTGTAAACAACTGAGAACCGCTGAAGATGGCCCAGGGAGATTGTGATTCATCCACTCTTATCTAAATATATACTAATGATTGGTAAAATATAAAAAAAGGAAATCACAAACCTTAGCTGGCTTGAAATACAAGATAAGTATTACATTGTGTCAGAAACAGGACAGAAAATAAAATTATAAGTAGGGCCGGAAATACAGATAGATTGAGCTATAAGTCCAGAATTAGGAAGCAATGAAGCATGGCTTTTTTAAAGTAAAAGGAATTAGTAGTGCTAAATGTTACATAGGACTATAACCAGGCTTGTTGCTGGTCGAATCCAGTTCTGAGGTTAGGCTCTCCATCTCCCCAATAAAAAGAGACTGAATAAAGCTGTTGCAGGCCTGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGCAGATCGCTTGAGCCCAGGTGTTTAAGACCAGCCTGAGCAACATGGAAGAACCCTGTTTCTACTACAAATACAAAAAATTAGCCAGGCCTGGTGGTGCATGCCTGTCATCCCAGCTACTCAAGAGGCTGAGGTGGGAGAATCACCTGAGTCCAGGAGATCAAGGCTGCAGTGAGTCATGATCATGCCACTGTATTCCAGCCTGGGCAATGGGAGTGAGACCCTGCCGCAAATAACCAAACAAACAAAATAAAGCTGTTGCAGAATCACTGATTGAGTTTATGGCATTATAGAAATCTGTAGGCTTAAGAAAGCTGAAAGACAAAGAAATAGCCTGACTCCTTAGATGCTGAATCTCACTACCTATCCACGAGATCTGCAGTATCCCAACATTGCCAGAACAGAACCCCCAAACTGGCATTATAAATATCGTATGTATGTAGATATGGAAGGGACAGTACAGAGGTCTATGGAGGGAAAATACTGCTCAAGATGAACCTAGAATCCAAAATCCAAAGTAAATGGGAAAAAAAATCTAATCCAAAAAGGAAAACTAACAAAATCATTCAGATGAAACAGCTAGTCAATTAGTTGTTAATTTTATAGAAAAATCTGACAAAAAAGTTAACTATTTTAGTTTCCTTGAACAGATACATGAAGGAATAACTTGCAGTACAAAATAACAAGAACTTCTGGAGAGAAACAGGGAAAGATAATACAGTTATAGTTGAAAGTAATGTCAGAAATGAAAAATGTAGTCTTTAAATGAAAAAATTGATAGACAAACTATACATTAGATATGATTGAAGAAGACATGATAAATTGGTTATGTTATGAGACAAAAACAATAGTTTCAGATACTCCAACCTATTTCTAAAAGGATTTCTAGAAGTATAAAACAGAGAGAATGACAGAGAAGAGAAATTTGAAAAACTAATTCAGGAATTTTCCAGAATTGGAGAATGATGAGTTCTTGGATGAAAAGCATCTGCAAAGTACCAAAAATAATAAACAAAAGTAAATTAAAGAGGAAAATCTTCAAAGTTACCAGATAAAACATCAGATTTTCTTCCAAAGTAATCACCATGTTGACAGCGGACTTCTCATTCACAACACTAGATGTCAGAAGACAGTAAAATAATATATTCAAATTGATGAAGAAAAATAATTGTTAAACTTTATTGCCATCTAAAATAATTCAATAATGAAAGCAATAAGAGACTTTAGGAACCCAAAGACCACAAGAATTCACCACTCACATACAGCCTCAATGAAAGCAATATTGAAACATGTACTTCTGCAAAAAGTAAAGCCAGAGAGAAAGTAATGAACACCTAAAACAACAGTGAACCCCAAATTAACAAAATAATTTTAGTGTGTAATTTAACTTAAATTTAAGTAGCTTAAATATTGACTGTAAAATATGTTATGCTTAAGCTGAAAATCTAAACAGCAATAATTCAATTAGATATAATGTGTTAAAATTCATACTATGTTCAGTACTGAATACTTTAAGAATTTATTAGAAAGTTTTACACTTAATTACGCATTTAAAAGTAGATGGTAAAACACTAAAATGGATATACAATCCATAGCAGAAAAGGAGAAAAAGCAAAAAAAGGTAAAGAGAAAAAAATATAAAATGGGAATAATACCAAATATATGACTATTGTAAACATATTAATCCTACCAATTAAGAGAGATTATCAGACTGGGGAAAAAATAAAATCCAGTTAAATGTTACTTAAAGATATACATTTCAGTCGTGATCACGCAGATAATTTGAGAAGTGGAAAAATACAAGAAAGAAGAACTTAATGGTGAAAATGTCCTGTTTACATATCACAAGAGTAAATACTTAAAAAATGTCAGACTTTCCAAAATCAAATTTTAAAATTTAATGCAATTTCAACCAGTATCCCAAAGTGTGTTTTGTTTTTTTTTTTAATCTGTGGCACATGAGTTTGAGTTAGCATTTGCTCAAACTAGCTCAAAACTTAGTGGCTTAGAATACCAATTTATTATTTTCTCACAATTCTGTGGGTTGCCTAGTAGATCCTTTGCTGATTTACTCAGACCCACTCTGCATCTGCATTCGGCTAGATCAGTTAGAAGGGAAGGTCCATGCTGGCCTCATTCATATATATGGCAACTGGTGCTAGCTCAGTCCTTCACATGCCCTCTCATACTGTAGGTACCTCATACTGAGGTACCTCAGTCCTTCACATGCCCTCTCATACTGTAGTAGACTAGGAGAGCTTCCTTATATGGTGGTTTCAGTGCAGCATTTCTAGAAGGCAGAGCCTTTTAAAGCCTAGCTTCAGAAGTTGCTTAAAGTCCTACCACATTCTATTGGTCAAAGCAATTTAAAAGACCAGCCCAAGTTCAAGGGGTAGAAAAGAAACTCCACGTCCTGAAGGAAGCAGCAGCCAAGCTTACTTGGCAAAGGGGTGCATATTAGGAGGAGAGGAATGTTTGACCATATTTTTCACTGTGTCACACTATTATTATTGTTATCATTATTAAGCAATGGCAGTTGAGACAGTATGGTGCTGGTTTAGGGAACGACAGACTAATGTAACACAAAAAAAACAGTCCAGAAACAAACTTATGCCAGTATGGAAACTTGACACATGACAAAAGTGGAGTTGGTTACAAATTAGGGGCTTGGAAGGACTATTTGATAAATAATTCTGAAACAATTGCTCACTCATTTAGAAAATGATAAAATTTGATCCATACTTTATATTACAAATAAAAATTGACTCTGAAGGTTTAAAAAGTTACAGAAATAAAACTGAAAGAGAAGACTTTTAGAAACAAAACACAGGAAAATATCTACTCAGGATTTCTTTAGACACAAAAGAAGTAAAAGTCTTAAAGGAAAAAGCTGATAAATTTGCTACCCTGAAATTAAAGATACCATAGAAAGTGAAAACACAGGCCACAGACTAGGAAAAGATACTAGTATCTTGTATAACTGACAAAGGATTAGTACTTAAAACAGATAAAGGATGTTTATAGATCAATCTTTTAAAGAAAATGTCCATAGTAAGGAAAAGGTGGAGGTGGGCAAAAGATTTTAATAGGCAACTTAGATGAAGAGGAAACCTGAATGGCTAATAAACATAAGGAAAAGTACTTGTTCTTACTAGTAACTAGGAAATGAAATTAAGACCAAAATTTGATTCCATTTCATGCTCATCAGATTGACAGAATTTTTAAGTCTCAACAGACCAAGTATTGGCAAGATTGTAGCATAATGTAAATTCTTATATATGACAAGTAAGAGTATAGATTGATAGAGTTACTTTGGGGAATAATTTGTCAATATTAGGTAAAATTGAGATTGACCACACCTTCAACCTACCTAGAGAAATTCATGCAAATGTGTATAAGGAAGTACACAGCATGGTTATTGAGGTGTTTTTTTAATAATGGTAAACAGTTGGAAATATTCACCAGCAGAAAAATGGATAAATTGTTGTATATTAACAAAATGAAATGTGCAGCTGTTGGAAATGAAAGAACAAAATGGATGCACCTTAAAACCAATAATGAAGGAAAAGAGTAGGTTGCATGTTACCCTTTATATAGAGATTGGAAACATGAAAAACAATACTATTTATTGTTTATAGATACAGATAAAACTAAATTCAGGCCAGAATATTTTCAAAACTCTTCAAGTGACCTGTATATCCCATTAGTCATATAGTAGAAAGAATATTTAAGTATTAAATAATTATATTATCATCCCAGCTCTTTTACTAACAACAAAGTTACTTATCTTTTCCTTGCAACAGCAACCTTACTGTAAAATTCAAGTAATGAAATCATTCAAAACAATTGGTTAAGGGATTCTCTCCTAGCACCTAAACCATTCCCTGACTGTATGTTGCTGAAAATTATCTTCACTCTTCCAATTTAGTGTTCCCTTCATTCTGAATTCTATAGTTCTTTCATTTAGTATGTTAAAATTTGAAGGCACTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGGCGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGTGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGATTCACTCCATTCTCCTGCCTCCGCCTCCAGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGCATTTTTAGTACAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCGGCACTGTACACTTTAAGTTTGTTTATATTTTGTACCAAGTTCAAATTATGATAATATAGATGTGGCTCTTAGGGCAAAGTGCCAGAAGAGCTATAAATGCCAAATACTGACTCTACATTTGTTACCTTTAGGATAGTCAGGCTAGATTAACTGCAGAAACTAAAAGAATGAAGAGTTTCAAAGAAGAAATATGAAGATAATAATACCAAAAGAACCGTGTTTTCATTTTCAGGATTTCTTATATCTACACCAAGGTTACCTTAAAGACATGAATTCTTTCTTCTCTTTAATTCTTCTTTCATATTCATATCACATGTCGTTTTTTTCATTACACTTTCTGAACTTTATTCTATTCCTTAAAAGGTGTCAGAATTCCAGGTTGGGAATACAATGTTTGCTCTCTAATTATGCTTTTCTCCCTTCCCTCATGGAGAAAGAATAACTTTTTGGCTTTTGCCACTGTAATTCTATTACACTAATGTCAAGACACCCGCAGTTGTATAACAGATGAGATTTATATGTAATTTCAAAAATATATTTGCTAAAAATGAGAAATCAGTCTCAAAGAAGTTGACAGTGAACACTAGTCCAGGCCTTACTGACTTTATTCTCAAAGTACCATAATCTTTGTTTTCATATATTTGGAATCGGTGAACACAATGGAAAGCATAGCTCTTAAGGTAGAATAGAGTAACCTCTGACATTTGCGACTTTAATGCATATTTTCATGACATATTTGTTTCCATGGCAGATCAGTGGCTTGTTACTAGAAGGATGTAGTTTTGATGGAAATCAACTTTCTGAAAATCAGCTTGATTCTCCCAGCGTGTCATCAGTGCTCCCTTGTTTTATGGGCTGGATTCCACAGGTAATACATTTTTAACAAGCACAAGTTTTAATTATATCAGTTCTCTCTTAGATTTTATCTTTTCAAGAAGACATTCTTGGCCTGTGTATTTTTGTTTGCTTTCTAATCTCACCTGCATTTGAACAAATTTGCAGTCAAAAGTACTTTATCCTTTATCATGTTTAAGATGCACAAGACATTTGAAAACCTTGATTTTGTTATAGAAAGAATAACATAGTATTAATTTCTGGAGAGTTTATAGCCTGGTAATAAAAAAGCCTTTAATGATAATAAGAACTACCATGTGTTGCATTCCTCTTATTTTCAGCAATGTGTGCTAGGTACTTTATATGCTTTACCTAAAATCCTCCTCAGAGCAGCCATGCAAGGCAGATATTATTATTCCCACTTTCAAATGAGGAAACGTGCTCACGCAGGTTAAATGACTTCTCGTAGTTAGCTACACAGAAAGTGATAGAATTAAGGTGTTAATAGATGTATGGCTTTGTATCACACAATGTCATTATGCAGCTGATAGGTGGATGAAGAAAACAATCTTAAAGACTTATTTAGTTAACTTTTTTCCTTTCAAAACCATTATTGAAAAAACTTTCAACAGTAGAACTTGGGGTATACATGTCTTTCAAATAGGACATAGTTGTAAAGAAGCACATAACTTTTTCTTAATAAAGTTTAAGAATGCACATATGACTACATGTGAATAAACTTTAAAGTTCTGATTGTGTATCTAATGAGCAACAAAACTATTTCATATATTGCTCACTACAAGAAAAATGAGCTTTCTCATTGGGAAATAATGCATTGAATTTTCCAGTTATTGTCATTCTCCTTATAAAATAAAAATCAAATGCACCAGAGTATTTATTTAAGGAAAATCTTAAAAAGCGATAGCAGTTAGCAACATTGCCAAGACAGCTATAAGAGTATCCTCTGACCTAAAAGAGCATATGTTTCTGTCAAAATTCCCTATTTTTCCCCCATATCAGCTTCATTTTCTCCAAAATTAGAGTGACTATAAGATAAAGGAGAGAGAAGAGACTGAAAGAATCAATGTTTACTTCAATCTTGCTGTTAATTCCTATAAGAATTTTCTACAAAAATTTGGTAAATTATGAATGACACATTTTTGTCTTAGCTGTGTAAATCAAATTGAAACTTATATACAAAAGTTAAGGTTGGAATTTGTCAAGTGTTGTGAATATAACATACAAAATTGTTTAGGATGGCAGAGATAAATTCCAACGAATTTAAATTATATAAACTGCTAATTCTCTGGAAAATAAAATCCATATAATGATCATGAGGAGGAAAAAAAAAAGTAGGGCAAGTATAAACAGGTTCACTTGAGGAAAAACCCAAACAATAAAAATAGAGCTTGAAGAGCAACTAAGAATAAATATAGGAGACAATGACCTGGAGCCATACCCACGTACTGAACGCAAATCAGGAATGCAGTGCTGTCATGGACAAAGCCAATCTGTTACTGGGTTGTATGAAAAGCAATGTGACTTTACAAGACTAGGAATTGATAGCTTGGCAATATTTTACTTTGTGTATTATTTCTATCCAGTTTTATTTGTCATACTTCTAAAAAGTCAGGATTGGAATAAAAAGCTAATTTAATTTGAAAAATAGCTCATATAAAGAGAGGTAAAATGAATAGAGCATTTATCCTATAGAAGAGATGACTAAAAGGTAATATGAACTTTTTACTCTTTTTCTTTTTATTATTATTCTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACGTATGTATACATGTGCCATGTTGGTGTGCTGCACTCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCACCACCCCACAACAGTCCCTAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTATGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGACCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGCATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTAGGTTGATTCCAAGTCTTTGCTATTGTCAATAGTGCCGCTATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATATTTTTCTGTAAGATTTTCTCCTGGGCTTTTACACTTGTACATGACATGTAATGGAAGAATTTGTTAGTGCTTCCCCACCTCCTTTTTCCCCTTCTTTCTTTACAGTGAGCCTCCTCCTTGTCCTGTAATCATACTACTTTCAGAATGTCTGTCCCATATCAGCTAAGAAGGAAAGAACATGAGATCTACTGCTAAGTGTTTCAGAACACAAAATTCTCTAGTTCAGCAGACCTAAATTGTAATCCAAGTTTCCAAGCTTATGAATTAGGTGATTTAGATAAGGTACCTAACTTCACTGAGCCAGTTTCCTCATTTGAAAATGGACATAATAATGTTTCTGTAGGATCATGTTGAGGATTAAATATGTTTGTGTGTGTGTAAAGTACCTAGCACAGTGCTTCATACATGGTAAGTCAAATTTATCCTGTTGTCAATAATTTAAACTTTTATAATGCTATAATGTTTTATCTTATTTCATATGGTACTTTTTAGTTTACCAGTACTTTCACTCATTATTAAGTTATTGTTGAGTTTTTATATACCAGATGTTATGCTGAACCCTGGGGTTACGAAGATAAACAGATTTCTCCTGCAGAGTCTTCCGCCAACTGGGGAAGCAAATAAGCAAAGAGAGTGCTACAGTTCGGAATCATTAGTGCAATTAGAGAGGTTTATATAAAGTGCTTTGATAGATGAGGGAGGCTTCAACTCTACCATGTGTGAACAATGAGGGAAAGTCAGATGACCTCGCTGAGAGAGGTGGCAGCTTCTCTTGAACTGTTACTTGAACTTTAGTAATAACAGTTTAAGGACAAATTCAAAAAAGATAGGGTAACAAGGCATTCCAGACAGAAGTAGCAGCATATGTAAATATATGCAGATAGAAAAGAGCTTAGGATATTCTGGGAACAGCAAGTATTGTACATCTGGAGGGTATAGTTCATATGGAAGAATGGTGGGGGATGCGGCCAGAAAGGAAGGCCAAGACCAAGTATGAGAAGCTGAGTAGCCATGCCAGAGTTTAGACCACCTTATGATCAGTAGGAAGCCATCAAGAATTTAGAACAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCAGGAGAATCACTTGAGCCCAGGAGTTAGAGCCTGGCTTGGGCAACATAGCAAGACCCCATCTTTATTAAATAAAAAAAGAATTAAAAAAATTTTTTTTAAAGAATTGAGAACAGGAGTATGGTAAGATCAGATTTGTAGTTTTAGAAAATCGGTCTAGCAGTGAGTGGTTGGATAATAGATTGGCACACTGTGAGATACAATTATACTGGCGTCTCATAACAATCCTATGAGTTTGGTACAGCAAATTTTCTATTTTTCTGATGAAAGGACTGAGAATCAGGTAAGTTAAATGACTTATGAGTTCCACATTGGTAGCATTAGTGTCCAGACAATCATAGTGAACATTTATTTGCACTGATTACATACCAAGCACTATGCAAGGTGTTTCAAATACAAGATATTAAGCTTTAAAAAAAATTTTGAAATAGGAATTGTAATCTCCATTTTAAAGTAGAAAATGGAGGTTTAAAAGATTATGTATTATTATATGATAATAATAAAATTCAGAACTTTGGTAACTAAACTTTTTTTTTACACCAGAAGGAGGTTATTTCACAAATTATTTTCACAATATTATCTGACACCCAGTATCCCTGAGGAGCTTCGTTTCAACAGAAACTTGCCCACTAACCCAGTCATTTGCACAACATTGCTTTGAGTTAGGCTGCAGCTCCATTTTTCAGAGAACATTTTAGGTTGCAAAAGATTGAAGAACTTCAACATTGTTTCAGTATGTGGTGATACTTAAAAAAGGGTATCATCAACAAATTCTAAGACTTCTATTGGGGCATGAAGAGGAAGCTCTATCATTGCCTCTATTTGAAATGCAGTGTACTTTGTGAATTAACAAGATTGGAATGATGAATTCAAGGAAAAATGAAAATAAATAAAATGCTGATGAAATATTTTTCTAGTATTTCTGTTTACCATTATCTATGTACTAAGATAATATAACTGACATTCACACTATTTATTCATTCATGAAACAGATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCTCCATGATACAGATTCTTAAAGTTACTCCAGTTCCAGTTCGGTGCAGTATTTTTGGTTAAATTAATATTGGTTCAAATTAAGATATAGCTAGAGGATTTTACCCAGAAAGCATTAGCTTTTTCCAGTGCATTTCTTAACATGTTTCTATATATCATAATAATTCTCTATGAAAAATGATTCAGTAAACAAACTTAATAAACACAATATTCCCTCCCTTGGAAAGTCTTATATTAACATCTCTGAGAAGTCCCAAAGATTACTTACCACACAACCTTCTCATGCCCCTACACCCTATGCTCCATCAGGATCTAATATTCCACATAGTATGATTTGGTCAACACTGCTTTATGATGAAGACCAGTCTCAGTGATGCCCTTCTGGCATTCCACAGGAAGTCAGTTTGCCTTTGCTCTATCTTCCTGGAAATAATGCTCCTGAGAGTTTATCAGCCCCACAGTAACACAGTAGTCCTGAGCCAGCCTGAACCCATGAGGCTGGATCTTCTGATAGGCACAATTGACAATTCAGCTTCAGAAAAAAATTTATTCTCAGAGAAAATAGAACTATAAAATATTTACACAAGCTACTCAGGAAAACAATCATTACTTTATATTTTGTATAGATGTTAAAATATCACATATATCAGAAGATATGTGTTGAAAGTTCTGCCTTCTATACACTCTGGTTTAAAAATACCAAATATTTCACTAACATATTTTGTATGTTATTTTTTTTCTTCAAGGACTTATTATGAAAGTAATGATGTTATCACTATATTGTTGAAAAATCAGGGAAGTATATCTTTACCAATATACATTTTGAAACCTAGCTAGACATTCTTAACAGAACAAAGTCAGAGTATTCATTGGTGGCAAGCTGTTTTGTTTCCTATTTTGAGATTTTTTTCCCCCAGAATTGCATCACTGAATTGTGCTACTTGTACATACATTAGAACTCCGATTTCCTATCATTTCCTCTTCTAAAAAAGAACTGTTCATTGACTTGATTATAAACATTCAGAAAGCATGTGTTAAAATAAGTTGGACTGTGCATAGACTGATGAATATATTTTGTTTTGTCTTCATATGTGTTTTGTTATGAAATTTAATTGAAATTGGCCAAATAGCTAATATGAGTAACGTAATAATTTTGTTTTCATTGTTTGGTTTTGCTTTTCCTTGCTTTCTTTGGTTTGCAAACTAAGTGATATCTAATATGGTAGTCCCTCTGTATCTGCAATTTCAGTTACCCACAGTCAGCAAATAAATGAATATAGTACAATAGGTATTTTGAGAGAGAGAGACCATATTTGCATAACTTTATTATTGTGGTATTGTTACAATTATTCTATTTTATTATTATTTATGTTAATATCTTACTATACCTAATGTATAAATTAAACCTTATCCTAGATATGTATGTTTAGGAAGAAACATAGTATATATAGGGTTTGGCACCATCCGCAGTCTCAGGCATCCATTGGGGCCTTGGAATGTATTCCCCATGAATAAGAGGGGACTACTGAGTCACCATTTTGCCTTTGAAAATTGCATTGTCTTCTTTCAAATAGTAGTGTATTGCTTGCTATTTGTAGAATGTATGTTTTTAAGTCATTTTGCCCAAGGCATGGGCAAATTTTGTTGTGAGACATTCAGGCTTTTCTTGGACACTTTAGGAAAGCAGAAAAATTATGCAAGATGTTTATTCACATAAAACAATTTTTATTTATGAAAAGCTAATTGATTCAAATGAGTGTAAAATTTCAAATTTTAGCCTCATTATTGAACAGAACTGGACCAGTTTGTTTTAATAAAGATATGGTTTATGAACACATCAACCATTTTAGAGTAATCAATCACAATTTATAGATTTTGAATTACTGTAATTGCACAAAACTTTGGAGGAAATATAATGTGAATTATTTGAAGTCTTCCTAATATATCTCCTTTTCTGCATTAATTGAACACAGGGTGTTTGTTCATAGTTATTAATAAAATTTTAGTTTCATCCAAATACTTCAGCCCAACAGTGTCTTATGTTTTGCCTGTTAAAGATATTAAAGAGGGAATTGGGTCATAATAATTTAATTCAGTTAAGGAGTATTCAAAGAACTTCTATATACACAAAACATTGTGCTAATATAATAGTGAGAATGCCAAAAATACTTGTCCCTGCTTCTACTGTGAGCATTTATTTATTGGAGACTTAAGAGCAAGTGTATTTAACTTTTTTACAGAAGTAACATTTACCACTGAAGAGATTTTGAGAAGTGACAAAATATCAAGAAGCCACTGTATTGCTTTGCTTTAAAACACTGTAGGTTTTGAAAGAAAGATTTGTACCCTGGCTGTAAGACAAACAAAGCCTACAACTAAAAGATTTGGAAGAATTTGGAAATATATACAAAAACTAGTAAACTGTTAGTGAATATGCAAAAAATCAGCTTTAAGTTGATAATAATCAGCATTATTAAGTTCCTAATTTAAAGAGAAATAGTCTTTACATCGATATAGAGAAAATCTCCTGACTAGAAAGGAATAACATCGTAAAACATTTCATTGTGGTGTTTCTATTTCAGTTTTGATCATAGAAGTAATGGAAAACAAAGCAAATATCAGGTGTTGGAAAAAGATAATTTAAGACCTTTCCCAGGATTAAAAATAGGCAATCATAGATTCAGATCACTTCAGTCTAACAAATATGTGATCTTTGTCTGCTCTTTGCCAAAGAATGTAAAGGAATGCTTGCACTAGGCTTTACCTTTTAAGATCGGCTAAGGAGTCATGACAATTACAGGTTTTTATTCCTAAAGCTTTGCCATCTAAGCAGAATTGAACAAGAGGGAAGAGATTAGTCAGTGACTGATAAAAGTTGAAAATTCTCTTTATCCCAAATCCCACATTTTTTTTTCTGAAGTTCAACTAAGGATTTACTCTCTCCATGAATCACTGTTAGGTTAACATATCCCAGAGTAGCATTTTCTTTATTTTGATTTTCTGAAGTATATATTTTCCCAAAACTTATATTCTAGATATTTGATATGTGTGTATTTTGTTTCCTAAAGTAAAAATTCAAAGGAGATTATTTTCTCTATTTCTCTATGTACTGAAATGCTTAGCCTTTACAATTCTAGGCACAATATTAGCATATAAAGTGCTGTTAAATGAATAGCTGAATAACTGACAAGCTCATCAGTGCAAACAGATAATTAGAAAAATTTAGGACAGATGGTGTTTTTATCTATTTGGGAATCATTTTACCTAGAGAATATGTCTTGTTATATGTAAATCAGGTTAAGTTTTAAGAATGTTAGGAATGAATAATTTTTTGGGGGACATACTGATTTATATCAAGGGCCAGAAGAGTCAGAGCAGTTGTTGGTGTGTGGGTATGTGTGTGGGCGGCGGAGGGAGAGAGACAGAGAGAGGAGCAGGATTGGAAAAGATAATGTAAAGTTCATATAATGCCCACTTAGGCTTAAAAGTAGAATGTCTTAATTTTCTGTGAAAGAAAATTATTTTACTGCTATCATAACACCATTTAAGAGATGTAGTAGCTGCCAAAAAGCTGATTTTTTCTAGTCGATTTGAGAATTAGCAGGGAATAAGGAAAAGGCAGTCCAAAGAATCAGAGACATGTGGATAAATAATACTTATATCTGGAGCTCTTTAATATGACATCTGATTCTTTCCACATCCTGTGAGGTGGGTAAGTGTCATTTGTCTTTCTATAATAGTGAAACTGATGTTCGGAGAGTAACCTCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAAAAATGCTAATCCTATATTTGAATTGGAAATACAATTATGAACTCATGATGTTTTTCTTTTAAAAATACATGATTTCTAAGCTCCAGTCACTAAAACATCCTAGAATTAAAATTATCAATTGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCACACGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTGCCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTGGAATGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAAATTACGCCACTGCACTCCAGCCGGGGCGACAGAGCAAGACTCCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATCAATTATTCCTAGCACCCAAATTATGGTCTCTAATACCATTTCTCTTGAAAGAAACTAGGAATCATCAGATTAATGACTAATTTCCAGGGCAGGAAATATAAAAGATGAACTTGTATAATAATACCTGTCATACTAGAAAGGCAGTGAAACTACTGAAGAGACAACTGGGGACGTATCAAAACTCAGGAGCCAACTTAAAAAGTTCCCCTGAGCGAAGACTGACAATTTGAACACCAATGCAGTAGCGATTGCATTGCATTAAAGCACATCATATATGTTTAAACCCACCAGTTCATAATACCATTTTTTAAAAAGAAGGGGTGGTCATTGATCACCTTTGGAGTGTGCTAGGAAACATTCACTGTTTTGAAAACACATAAAGGGAAATAGGCATTTATCTAGTTTTTCTTATATGAACTGCACCTCATGGTAATAAAAAAATTGATAAGTGGAAGTTTCTCTTTATAGATATATTCCTGCTTGGAATAAGGAATGATAGATTACCCCTTGTGTAACCTTGAATGAAAAGTGATTATCAGTGGCCTCTAATAGCCAAAAAAGAGAGACAACCAGACATATGCTGCTTGATGGAAACATCTAGTACCACCTATGCGGTATTTTCCAAACATTGAGTCTGAGCTCACCTCTAGATCCAGTTTATAGGAATACAAGGAACAGACAGAGCAACGTGATACCATGGGAACGTAACCCAAAAAAGAATATGGGAAACTATTTGGTATAGTTTCTTCTGCAAACAAATTGCTAGGAAAAGAGGAGGAAAAGCTTACAGATTTAGGAGACTTAAGAGACATTTCAACAAACTGCAAAGCATAGGCTTCATTTAAATTATGATTCTAACAGAAAAACTCTTTAAAACAGGAGATGAGATAATGGATGTGTGATGATATTAAGGAATTATTGGTAGTTTTCTACTGTGTGATAATACATGGTTCTATTTTATTTATAGAGATATATATGTAAATATTTATAGGTGAAATTTTGTAATTGTAAGGTGCTGTTCAAAATACTCCAATGTTTGGGGCTAGGGAGAGGTTGTAAATAAAACACGATAGGCCATGTGTTTCATTTTGTTGCAGGGGGATGATAGGGGTTCATCATATTAATTTGAAACATTTCATAATATAATATTAATATGTTTGTTTCCTTGGTTATCTAATAATCTGTTTCCAAATAGTGTATTGCTTTATTTTAAAACAAGTTATTTTTTAAACAGGATGCATGTGGTCCATATTCTCCGGATGAGTGCATCTCTTTGCCTGTTTACACAAGTGCTGAAAGGGATCGTGTGGTTACCAATATTGATGTTCCATGTGGGGGCAACCAAGACCAGTGGATTCAGTGTGGAGCAGCTCTATTCCTAAAAAATCAGTAGAATCTAATGACAACAAAAGCCATCTTCACAAAAGGGAACATTGATTCTTTAAGCTTTAAATCAAACATGTGGTCAGTCTACATTTGAAATGTTAGTTCAAAATATTAACATATAGTTATGTTGTTGATGTCACTGAAATTTTAATGTGTAAAAGCAGCACTGTGCATCTTTTAAAGTAATAAATTAATGGAGTTATTGTTAAAACAGAGTATTCTTTTGACAACATTAAATATTTCTGTGAGAAAGTTCACTTTTCCAGTGGCTCAAAAATTTGTTTTAGGTCAGAGATTTTAAGTGGTATATTAACCAATAATAAATATTTTGGCTGTCATTTGTGTCATAATTATTTAATAAAAGAGCATTCATAATTTTTGCAGTCTTCCCATGACTCTTTTTACATACTGAAGAATGTATTATAAAGTTATAATGAATGTATAAAAGTATCAACATGAATATAATTATACTATGCTAATTATAATATACAAATATATAATTATTGTCATAATTATATACTTATAACTAATATCTTAAGGTAATTCAAATAGGAATAATTCAGGTGACATAATAATGGAGGATAAATTCTGGTTATTAAACATTCAGCTTTTTTGTGTTTTTGTTGTTGTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGATAGAGTGCCGTGATGCAATCACGGCTCACTGCAGCCTCAACCTCATAGACTCAATCTATCCTCCTATCTCAGCCTCCTCGTAGCTGGGACTACAGGATACACCACACTGCCTGGCTAATTTCTTTATTTTTTTTGTAGAGATGGGGTTTCGCCATGTTTCCCAGGCTGGTCTCAAACTCCTGCACTCAAGTGATCCACCTGCCTTAGCCTCCCAGAGTGCTAAGATTATAAGCGTGAACCACCACACCTGGCCTGTATTTTTTATAAGAGCTATTACTTTAGCTCTGCAAGATTCACCAAAATCTAAGGAACCAAAAATACTGTTCAGTTGAGTGACAGACATTTTAGTATCCTATGAAGTTTTTTGCAGCTCTATTCTTGCAGCAAACAAATTCTAAGAGCTGAGGCTTATATTTTTGATAGTTATTTAAAAAGTCATATCAATGAAAAGTTATATATTTAGAGGAGAAACAAGATAAAATGGAAAACATTTTTAGAAAAATATATTTAAATATGTACTTTAAAGGAATATATTTAAATGTATATATTTAAATATATTCTTTTAAAAATATGTTTATAGGGCTTGCTGTTGACATTACAAGATCAGCTAGGAAGGGAAAAGCATGGACGAATACACATGGAACGTTTTTGTGGGCCGTGTCTGGAAATGTCACGCATCATTATGTTTACATTCCATTAGAGAGAACTTAATTACATGGGTATACATAATGTCTAGGGTGGCTGGGAAATGTAGTCAGCTGGGTGCTCAAAAACAGAAGAGGATGGAGGGCTAGCTAGCTCTTTCTACCACATCCCCATCCAGTGAAAAATTTTAATTCATTACAGAAATGTATTCAGTACAATGACATAAAATTACTTAATAAAGCAGCATAGGTCTTTAATATGATGCAAACCTCATGTTTATGAATTTTTGCATTAATATTCAGCAAAATAAGCCAGATACTGGCCAGATTCCAGAAATATGAAGATAGATAATACAGTCCCTGCTCTTCAGAGATTTAAAAGCTGATCGGACAGTGAAATATGTAAAAACAGTCTCCACACTGTAAATGTTTTAATCTGATATTAATATTGCTATACCACCAGCTTTTTTGGTTAAATTTGGGAAACAATACATTAAAAATGCCCACATAGAGACAAATCATAGCACAATGAAATAAGAGTTACGTGGCACGGTAGCAAAGGGCCGTGGGATTCCAGGGGAAGGAGTAACTAATCAAAAATTATTAGTAACAGTAGGCTTCTTTTTCTCTTTTTAAAAAAACTTACTTTGAAAATATTTTACAAAGAATAAATTAATTGCCTTCCTCAAATGAACAAATATTAGATGTTACGGTGTTTGCTTTAGATTTTTTTTTAAATATCAAATTTTAAAAATTGTTTCAAAATCAGAGTCCTTCACATTCCCTTCAGCAGAACTTACATTTCTTCCTCCAAAGAGACACCCACTAACCTGTATTTGTTACCTACACAGTACATGTTTTTAATATATAACCAAAAATAAGGGGAATTTTTTTTAATTAATGGGAGCTGCAAGGAGCCTCTCTAAAGCTTCAGAAGGACACAGTATGTGAGGTTCTTAATCCATTAGAAGCAACGAACGATAGTTTTCAGTCCTCAGAGACCACAGATGTTGGAATGGCCCCAAACAAAATACATCATAGCCATGTATTTGGTAAATTCAATATGACAATTTGCAAAATAAAAATCTTGGCTAGCCAGGAATTGAAGGGACTTTTCACAAATAATGGATATCTATGAAAAACCTATAGTAAAGATCATTTTTAATGAGGAAACAGGGTATTCACTTTAAAATGAACAAGACAAAGCTCATCACTTCTATTCTACACTGTTTGGAGGTCCTAGACAGCACAGAATGACAAGAAAAAGGCAGAATTGAAAAGGCAAAGACAAATACAAAAAAATACGTTCAAGGAGAAGAAAATATCAGCATTCACATACTTCTTCCCATCAGCCCTTTGCGCAGCTTTCGATTTTGGCAAGCTCACACATGTATACATCAAAATAAAAATTTTAAAGGGAAGGAGCTGAAATTTAACTCCCTGTGTTAAATATTCCTAACCAATAATTATTTGGGGGTTTTATTCGTTATGCTGAGACCTTCTGCTATAATTTCTGAAAAAGATATGAAGACTAAAGAAAATAAAATTCACTCCAGTTACTTGGGGGCATCTTCTTCCATGTTATTTCTATGTATTTACTTCCATTGTGTCAAAGTCTGGATGAGTTATCATTTCCCACCTATCTTAGGAAGCTGTGAGCACAAAAGAGCTCTGTCAGGAAGGCGGCTACAGAGCACGCAAAGTGCGAGACTGCATTTGACCTTTGGGAGACACACAAAAAGAAAACAGTACTATAATACGAAGAATATTTAATTCAAGAAAAATCAGTCATTTCACCTCAATTTTGACCCTCTTACACACTAAGCATCTTAAGAGCAGGAAGTATACATTTCATGTTTTTGTTTATGGCACTTGCTTTTACTGGAGCTCAACACACATTTATTGAGTCAGTGACTAAAAATTGTTTCCAGACAACTTAATCATCAGATTTGTCTCCCAATGATTTTAGATTGCTCCCAGAATCAAACCCATCCTTAAAGAATGAGTACATTTCCATCATTGAGGATAGTTGGAGAAGGCTTTCTTCAAAGGTTCTCATGGAAACTTGTAAAAGAAATTTCAAACATCTCAGCAAGGTTGACATCATTGGACTGCGCCTCCATGTGATCACTTTGAAGAAAACAAATCCTTTGGTTGTATAGTCCTTCAATCAAAAAATCTTTGGGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCGTACTAGCTAACACGGTGAAACCCAGTCTCTACTAAAAATACAAAAACATTAGCCGGGTGTGGTGGCTGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTTTGGAAATGAAAAGGATCTTAGAGATTGGCTGGGTTTCTGTTTTATTTTTACTTTACAGCCACACCTTCCTAAATGCTCACAAGTCATGCCTTGTAAACTTAACATTTTAACTAGGAGAAAAATCAATTATCAGAGAAAGTTTCATGGAAGAGGTGGACTTCATGCTGGACCATCAGGGAATCTATAAGGAGTGGACGTGTACCTACCAGGGTCCAAAAGCTCAAACCAGTCCACCTCAGTACATCTGCTACCATATATTAAGACTGCAAATTTCACACTGAAAAATAAATGTGCTCCAATAGTTAAGTTATCAATGGAAGGACAGGAAAAATAAACCCAATCTAAGCGGAGAGAAAAAGTAAGCTTACTGAGAACAACTGTATACCTACAGTGATATTTTCCATGTATGTAAACATGGCTATCAGCTATTTGTTTTTCAAAAATAAAGAGAAAAACAAGTATCAACCAAAATATTATGCATAACCATTATAAATTCTGATTATACTGTGCCTAAATTTTCCTTCCCCTTTTTTAGTTCCTGAACACCGTTTCCGAAGGGATTAAGGCAATAGAAACCTAATAAGATAAAAGCAGAGACAAGAAGGTGGAATGTGTTAAGAATCAACACAATAGATAGAAAGATGGTCTTCAATTTCTCCCTGTTTTCGAAAGTGTATTATTTATTGTTTAGCAAAGTAAGAATAAAGAATAAAACCATGTTTAAGTTTTATGGGAAAATTACAAAGTAATGAACACACCAACTTAAACCACATAGAAAAAAATAATGGAATCAAATTACAGCCTAAATGCAAAATTTGATTATTAAAGTCAGTGACACCTGACTTTTAGAAGTTAGCTTCGTTTCCATTTGAAATTAATCACTATTAAAATAGGAATTTATGCGAATGTAACTGATTCTACTAGCAATGGCGATATGCTTAACAATGGGGTGGCTGCTCACTGATTTTTAATTTAAAGATGCTTCCCTGCATGTAAAGCACAACTCTATGTTAGTTACTGCTGCTTGTCTCCCAGTGCCCATTCTCCCCTACCACCACAGTCAGAAAACTTATAATGTTTAACTGAACAAATGCATACTCAGAATAAAAACTGAAATTCCTTATCTCCCTTACATTCAAGTGTGGCCATGTGACTCATTCTGTCAAAGAATGTGAGCACAAATATCCTATGGCAGCTTCCAGGGTCATTCTTTATAGGATGTGGCCCATATACCATTTTCTTTCATCTTCATCTCCTCTACTCTGCTGCCTGCAACACTACCATCTTGGACCTCAGTCTCTGAGGACTTTGTCAAACAGATACCACCCTGGACTATTTAACTCTGAATTTCATTTATACAAGAGAGATTTTTCAACCTTAGATGGGGTGGATAAATGCCAGCTGGCTGGTGGTGTGGACAGACAAGATCTACAGCCCTCAGACAGTCCCTCCAAAGCCAAGGACGAGACCCAAATATTCCAACTGAACTAGGAACCCTAAGTTAGAGGCACTTTCAACCTGTGCTCTCTAATACAAGTCCCACTTGGCAAGGGAAAGCAATAATTGTAAACAAAACGGTCTCTCCAGGAACACCGTGTGCACCTTTGGGATGGTACTTTTTACATGGAAGCCAGTCATTAACCTGCCTCCCTCCCAAAACACTTCCACCTTATAGATGGTCACAGGAGAGCTGCAAGTGTTTAAAGTACCACCAGGAGGTCATTTCTCCCTTAGACCATTTCAGAGATCTCTCCAAAATGAATCTACCATTGGTTACTTGGTAGAGGTTCGCAAAATAACTGCTTCATTATTTATGTGCCCCTTGTGAGCAGCTTTCCCTGTAACTAAGTCATCCAATTCAAATAGATGGTATGAAATTTGTTCTTGATTTCAGCTGAAGTGATCAATGACACCACCTCAGCCCTGGAAGGCACTCAGTTCAGCTCCAACTCACTGTCTGTGGTTGTTTTGCTATATTTGTGATTCTGGGATAAGCATCTCTGAGATAAATTCTATTTGGTCTTAATATGATAATTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGAAGGCCAAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGGCGCCCGTGGTCCGAACTACTCGGGAGGCCGAGGAAGGAGAATGGTGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGATAATTTAAAAAGAAAATGTTTATAACAAAATGTTAGAAAAAATATTTTGTACTATGTAATACAATATTACTATGTATTACTATGTAATACAAATATTATATTTGTGAATATATGTATGTATGTAGTATGTATCTCAAATTAGAAAGTGGTACTTTAAAATATTAAATGTTCATTATTTCTGAATAGAGAGATGATAGGTAATTTTTTATTTTGGGCAAATTTTTACATTTTTCAAATGCTGTAATGAGGATGTATTGCTTTTATAACCCAAACAAAACACTAGTTTTTAAAAATTAAAGTAAATATAAGCTTAAAAAGAGCCCATCAAAGTTAGCTTTTCACGTTTCAAGACACTTCCCTTCAGAGTTTCTTTATTTGCAAACTTTTCAACGTATTTGTAGCTTGAATTGCTATTGAAGATGTTAATATACCTCAGCTCTTTGTAACTTCCAGTAAGGGTTTATTGGCATTTATACATAAGAGACATTTGATACAATTATCTTAGACCCAAAAGCAAACATGGCACTTCTAACTTGGCACATAGCTGCAATCAGAAATGTCTGCAATTTCACAGTTTAATATCTATAATAATGAGGAAACTGGTGAGTCAGCTCTTATATTGAGGCAAGAACCCTAGACTTGGAGTTAGGTCAGCAGCCTGCCAGTCTTAAGCTAGGCCCATCACTTTTGTTGTTCCTTCTGCATTTAGTTTTGTTTATGTATAAAATGTGGATTATAATTCTCATTTCCAAGTGCGATTTGAAGATCAAATGAAATTTAAGGTAGTGTTATATCTTCTTCATGGGACTGATGCAAATGTAAAAGCTAAGATTTAAAAAAATTATAAATCACAATTTTGTATAAAATACTATTTAGAAATAAAAATTTAAGTTGAGAACTTTTAAATTACCATGTTCTCAAGCCTTACATTATCTAGTTTATGATTATGTTTCTAGTGTTAAAGATCCACTTTGTTTTCATAAGATGAACTACAGTTTATTCAAATAGCTGCCATTTGTAGAATTTTGTTCAAAATCAATACTCTGTATATGACCAATAATAATGATGATGGCTTATATAGTTCTTATTGCATGCTGACATTGGCATTGCTGCAAGCAACTGATAGGTAGATACATACATGTTTATCACCACTCACCTCGTTATGTCCATTCCATTGATGAGAAAACTAAGACAGATTACATAGCTAATAAATTGGCAAAGTGGCAAGAAAGAAAACTCTCTTTCAGCGCCCCCCCCCCCCACCCAGGAAAGAGCAAAGCGAGCAAAACGGAATTCTCTAACATATATCATTTGGAAGTTAGTATGCTAAAAGGAATGAGCAGGATTATTCCAGAACCACAAGTTGATCAATTCTTCATCTTGACAAATATTTAGTACAGCAGTGCTTCTGGCAAGAAGATAAAATGAATTGACAGTGCTAGTCAAAATACTTGTTACATTACATATTTTCATTGAAGAGTCACCTCTATAAAACTTAGGAAGATAATATGGGGGAGGAATGCTTTGAATTGTGAACTTAGCTCTCAGAACTATCAACTTAGCTTCCTTCACTGCAAACACGCAGCGCTCTCTGCATGCACAGGACTATCCCAGGGGCCTTGAGGGCTCTCAGATACCCTCATTCTTCACTGTATTATTTATAAAGAACACTGTAAAATATTTCAAACAGACAGATATGTGTAGTGGATATATATACTATAAAGAGTAATATAATGAACACTTGTACCTAGCATGCCGCTGAAGAGAGCTTTACCAACAAATACCGTTTAAACTGCCTGATGTATTTTCAGTATCTCATTTCCCATTCTCCACCCAGAGGCAACAATTACGCTGAATTTGGTTTGCTTAATTCCCATGGTTTGATGGTTATTTTTATGTGTCAACTCAACTGGGCTAACGGCTACCCAGATAGCTGGTAAAACATCATTTCTGGGTTTGTCTGTGAGGGTGCATCTGGAAGAGATTTACATTTGAATCAGTAAACTGAATAAAGATCTGCCTCTACCAGCATGAGTGGGCCTCATTTAATTTGTTAAGGGCCCAAGCAGTACAGGAAGGCAGAGGGAGGGTGAATTTTCTTTCTTTGCTGGAGCTGGGCCATTCATCTTTTCCTGCCCTTGAACACTGGAGCTTCCTTGGTTTTCAGGCCTTCACACTCCAGGACTTAAACTAGTCTGTTCCTCTTCCCCTAGTTTCTGGCCTTGGACTGAATTATACCACTGGCTTTCCTGGTTCTCCAACTTGCAGATGGCATATTGTGGGACTTCTTGGGGTCCATAATGTCATGAGCCAATTCCCATAATCCTCTCTTACATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATCCTATTGGTTCTGTTTCTCTAGAGAACCCTAATACACCTGGGGAGTGGGTTCTTTCTAGTTTTTCTGAATATGAATGAATCCCTAGACCATATTCTTCTACTTGACAAATATTTGCTTTTAATCTTAGACAGGCCCCATTAAGACAAGAATAATACAGGGTGTTTGTGCCTAGAATATTCTAGACAGCAGTTTCACATAACTAGCAAAACGGAAACTGTTGAAATAGCTGCATAAGATAGGAACTAATAAGACCCTGAAAAACAGGATGTGGGTCAAGCTGGCTAAGACCAACTGGGCCCAACATGGCACTGGATTTGAGCTAGGTTTCACCTAGGACCTCATTATACACAAATTAACATACTCAACCACACACCCATCAGCACCATGACAGTTTCAGGAACACCCATATTTGGTGTAAAAATGTGTGACACCACAGCTCTGAGAAATCTTTACCTTCTTCCAGAAATCTTCATGAATATTCCATTCCTTGGTTAAAGCAACCCATAGACAGAAACCTCAAACCCTATTGTGCATGACTCACTCTCCTGAGTACACCTACAATCCCCTTTCTTGAGTGTGTACTTTAACTTGGCAATAAATCTCCATACTTTCACCATTTTCTGACTAGTCCTTAAATTCCTTCTTGAGACAGTGTCAAGATCCTGGACACTGGCCAGGGTTGAGGTCCTACCAGCATCTGGGTACCTTGTCTAGCCCACTGGTATCACTATCATGTTTGTATGGTTTTTATTTTTATGTAAATTATGTCTTGCTGTACATATTTTATGACTCTTTTTTTCTGTATGAACATATGAATTGACCACAATTTATCCAGTTTTCTCTTGATGAATATTTGAATTGTTCTAGTTTCTTACTACTACAAACTATGTGGCTGTAAACAGTAAGTTTCCTGACATGCATTTACAAGACTTCCTGCAGGGGTCCCCAACTCGCAGACCATGGACACATACAGGTCTATTAGGAGCCGAGCTACACAGAAAGAGGTGAGCAGCAGGTGAGTGAGCATTACCAGCTGAGCTCTGCCTCCTGTCAGATCAGCTGCAACATTAGGTTCTCATAGGAGCATGAACCCTACTGTGAACTGCACCTCTGAGGGGTCTAGGTTGTGTGTTCCTTATGAGAATCTAATTCCTGATGATCTGAGGTGGAACAGTTTCATCTGAAAACCACCAATCCGTCCCCCACCCCTTAGCCCCAATCCATGGAAAAATTATCTTCCACGAAACTGGTTCCTGGTGCCAAAAAGTTTGGGGACCACTGCTCTAGGGTATATACCTAGTAGTGGAATCATGGAATCTCCTGTAGGAAAACTGTCAATTTAATTAGATTACAGTAAAAATTTTCCATGTGGTTAAATGAGTTAACATATATAAAGTACTTGAAAGAGTACCTAGCACTGGTAAGCACTGTAATCATAACAAGATTTGAGTATGAACCAATTCATAGTCCCACCAACAGTTTATATGAGTTCTTATCATTCTGCATCCTCATCAATACTTATATTTCTGCAAATCTGGGGCATAAAATGGCATCACATTTACTTTGCATTTTCCCAATTAAAGATAAGCAATTTTTAATGTTTATTGTCCATTTGTGACTTTGTAACCACCCAGTGGGTTCTTCCTGTCCACTGCACAGATGAAACCAATTCACTGTGACCATGGCATTGCAATAAAGAAAGAGTTAATTGACATGAGGCTGGACATGCCACATGGAAGATGGTATTATTAATCAAATTAGTCTTCCCCAAAATTCAAAGGCTAGGGTTTTTCAAGAATAGTTTGATAGGCCAGGGAGTCCACTTCTGGGTGGGGCCACAGGACTGATTTGGGGGTCCGGGTGGAGCCATTGTTCACTGGAAGTGTAAAATCCTGAAAAGACATCTCAAAAGGCCAATCTTAGGTCCCACAGTAACAATGTCATCTGTAGGAGTAATTGGGGAAGATACATATCTTGTGACCTCCAAAATAATGACTAGTGATTATTTATGTCTACAGCTTAGCAGAATTCAAGCTCCTCCTCTCTCTAAACTTGTCATCTTTCATTAGCTTTACAAAGGCAGTTTAGTTTTGGGAAACGTCTATTATTTAAACTATAAACTAAATGTATCTTAAAGTTAGCTTGGCCTAAGCCCAGTGATGATTAAAGAAAGTTTGAAGGTTAAAGGCAAGATTGGGGTTGATTAGATCAGATCTCTTTCACTGTCATAATTTTCTCACTGTCATGATTTTTGCAAAGGTGGTTTTAATTTTTGTCTGTGAAGTGCTATTACCTTTTGCCCTATTTTTTCTGTTATCTTTTTCTGATTTTTAGGAATTAATCATCCTTATATATTTGTAGAGTAGTGCACTGTCAATTATATGTTTTATAAAATACACATTCCCAGTTTAGGGCTTGTCTTTTTTTATGTTGTCTTGTGATGAATAAAAGCTTTAAACTCAAATGCAGAATGTGCCAACCTTTCCTTTTTGGCTTGTGTTTTCCCAACAAAAGTTCATTACGATATACATGTTTTTTCTTACAGATTTAAAGTTTTAGAATGATTCTAAAAAGTAACCTTAAGTCAGATAAAGCCACATGTAAATCTAAAATTCAGTTGCGTGTCATTTTTGATATCTGTAAAAGTTACACAGTCCAAGAAAATGAAAGAATGGACACAGGATTATTTGGTGCTGCTTCACTAGCTGGAGACCTCCACAACTGGCAATGTCCTTGCCCGGGCCTTGTTTGGCCCTGGGGTTGCCACTGGAAATACCCCACCCACTGAGCCCAAAAGGCTGCCCTTGGCTTGCACTCCATCCCAGATCCTGCTCTCACCATGGGGTTTGCACTCAGCCTCCAGCTAGGTTGGGTGTGCTGTGACCTGCTTCTGCTTTGGGTACCAACATCTGGATGAGGGGAACATGGTGGCTATCAAAAAACTTGGAGACACCAGCAACTCTGAAGCCCCAAAGGGGGTGTTACAGTGTGTTAACAGCTCTTTCAGTCCCACTGTCTGCAGCCTGATGAATGGGGGCATGTGGCACCCAGTGGCTCCCTCTCCCATTGCTTGGCAAGTGGGAGAGACGTGCTACAGGGTTACAGCTCTGTTCACACTCGCCATTCTGTGGGTCTCGAGTTCTTGTCCCATTTCTAAGAAGAATGAGGTTATCTGGCAGCTGGCGGGTGAGCAAGGCAAATAATTTTGAGTGATGAAACAGCTCTCAGTAGAAAGGGGGACCCAAGTTTGGCAGTTCCCTACCCGAAGTTGGGTATTCTCCTCTTCCCAAAGGTGAGCAGTCCCAAAGTGTGGCTGAGTTTGGGGCTTTTATGGGCTCAGAATGCGGGAGTGCATGCTGACTGGTTTGTGAGTAAGCCAAAAAGGCTAAAAAAAAAAAAGGCACCACTGAAAGATGGGCACAACAGTATTGAAAACCAATTAGGGAAGGGTAGGTCTATGTAAAATAGGTGAAGGGTGGGGATCAATCAGAGGAAAGCATGCCAAATGGGAAGAGAACTTCTCAATCTGGTCTGTGGATTTATCCGAGACTTGTGGCTTGGTTTTCAGGCTTTAAACTGTCTTTGGCTTGAAGGTCAGGTTTCACTGGGGACCTTCATCAGAATGAAGAGTCCATTTTTGAGGGAAAACAAGTTTTTTCTTCCTACTCTCACATTCAGCACAGGACTCTTCTTTGGCCAGATGTGTCGGGGGGTTTTCTTCCCACACCAAGTAATTCTTTGTGGACATCAAATAGTTGTGCCCTATACTTTATTTCAATTCAATTTGATTCTGATACTGTCTACCTAGAGATAGTTACAGGTTGTAACCTGTGCATCTGACTAACCTGCTATAAATTGGGGTTTCCATGACCCCCTCCTGCCCCTTGACCTTAATAATGTGCTAGGGTGGCTCCCAGAACTTGGGAACACTTTACTTATAATCACCAGTTTATTATAAAGGATACAGATGAACAGCCAGATGAAACGATGGATAAGTCAAGGTGTGGGGGGAGGGTGCAGAGCTTCCCTGCCCTCTTTCTGTGCCACCCTCCCAGCACCTCCACGTGCTCAGCAACCTAAAGGCTTGCCAAATCATGTTGAAGAGTTTTTATAGAGCTTGTTTTTCAGTGCTGACCAACCCCCACTGGGTGGTGCTGAAAGTTTCAAGCCTCTAATCCTCCAATCACTGTCTTTCTAGTGACTGGATTCTTCCTGAGGCTATCTAGGAATGCCACACTAAGTCATGTCATTAACATCAACTCCAGTGTGATCTGAAAGAAGCTCATTCTGAATAACAAAAGACATTCCTATCACTCAGGAAATTCTAAGGGTTTTAGGTACTTTGTGACAGGAACCTCAGACAAAGACCAAATATATTTCATATTATACTACACCATTAATTTCTATTAAAGTAGAAAAACTCTAATGAGCTCCAAGCAGAATTTTAAATGCCAAGCAGGAAAATTCATACTGAAGGGGAGAAAATATAATTTCTTTTTCAACCCTCATAAATTCTTAGTTGAGACACTCTCCTGAAAATTCAGATTAACAAAAGAAAAACCAGCAGAGGTTTACTGATGTGTGCTGTACACACGACATGGGAGAGGCCTCAGTTCAAAAGCATCTCTCAAGGTTTAAGAGACTTGCTTAAATAGTATTTTAACAAAGAACCATAAATCCTATAAAAACAAAACAAAGGAGAATGCAGTTCCAGACTTGTAAAAGGTGGGAAAATGTGGGAAGGTAGTAGAATCTGTCCCAGTGTTAAAAAGTTTAGCCTAAAGCCTCCTCTTTATGAAACTGCCATCGCAAAACTGTAACTGAGATAGTCAAAGAGATCTGACCTACCAGCTCCATCTTACTTCTAACTTTCAAGCTGTCCTTGTTCATTCCTGGGTGTAGGCTGAACTAACTTTGGGAGAAACTTAGTTTATAGTTTAAAATGTAACCTCCCAATGGGCTCACCTTGCCTGCTGCCTAGACAGAATTGATTTATCAAGACAGGGGAATTGCAATAAAGAAAGAGTAATTCATGCAGAGCTGGCTGTGCGGGAGACCGGAGTTTTATCATTACTCAAATCAGTCTTTCCGAGCATTCGGGGATCAGAGTTTTTAAAGATAATTTGGTGGGTAGGGGCTTGGTAAGTGAGGAGTGCTGTTTGATCAGGTTGAAGATGGAATCACAGGGGGTCAAAGTTAGGTTCTCTTAATGTCTCCTGTTCCTGGGCATGACGGTGGAACTGGTTGGGCCAGATTACCGGTCTGGGTATCAGCTGATCCATCAAGCACAGGGTCTGCAAAATATCTGAAGCGCTGATCTTAGGTTTTACAAAGGTGATGTTATCCTCAGGAGCAATCGAGGTGGTTCAGACTCTTGGAGCTAGAGGCTGCATGACCCCTAAACCGTAATTTCCAAACTTGTCGCTAATTTGTTAGTCCTGCAAAGGCAGACTGGACCCCAGGTAAGAAGGGGGTCTTTTCGGGACTAAATTTGTTTCAGAGTCAAACGATGAACTGAATTCCTTCCCAAAGTTAGTTCGGCCTATGCCCAGGAATAAACAAGGACAGCTTAAGGGTTAGAAGATAGAGTCGGTTAGGTCTGATTTCTTTCATTATCATAATTTCCTGAGTTACAATTTTGCAAAGTCGGTTTCAAAAATAAAGAGGACAACGGCCCTTTCCCATAACAAACCCCCTCTTGCCTGGGGACTAGACTGCCTTTGTGGAACAAAGTAGCCAAAAGATTAGAAATTATGCTTTAGAAGTCATGAAGCTGGAGGCTACAAGATTCTGATTGCACCACTCCCCACCCCTTCCTACCCCCCCAGATTGCTCCTGGGGATAAAAGCACTGTTGTAAAACCAAAGATCAGTGCTTGAAATATTTTGCAGACCCTGCACTTCATGGATCAGCTGGCACCACCTAGATCATAAACTGGCTTATCTGATCCTGTGGCCCCCACCCAGGAATTGACTCAGCACAAGAAGACAACTTTAACTTCCTATGATTTCATCTCTGACCCAACCAATCAGCACTCTCGACTCACTGGTCTTCCTTCACCCACCAAATTATCCTTAAAAACTGATCCCCAAATGCTCAGGGAGACTGATTTGAGTAATAGTAAAACTGGTCTCCTGTACAGCCAGCTCTGTATGAATTACGCTTTCTCTATTGCAATTCTCCTGTCTTGATAAATCGGCTGTCTAGGTAGTGAGCGAGGTAAACCCACTGGGTAGTTATACTTACAAATTTTAGGTTTGGCCTAAAGGTTTCTCCCTACGTAATAAACTGTTACCTAACTGGGTGAGGAAACAGATTGTAACCTACTGTTGGGCCAGTCACTAAGTTTTGTCCCATCAAAGGTGGCCAACTGTTCAAACCATTTTCAAATAAGGCAAACATCTAGCTGTAACCAATCTGGCGATTTCTATATCTTACTTTTGAGGCAGGGTTTTACTGTGTCACTCAGGCTGGCGTGCAATGGCACATATTCGGCTCACTGCAGCCTCAATTTTCTGGGCTCAAGTGATCCTCCCACCTCAGCCTGCCGAGTAGCTGGGACTGCTCAGTGTGAGCCACCATGCCTGGCCTTACTTTTGTTTTCCGTACATTCTTTTTCTGCTCATAAATCTTCCACTATGTGGATGCGCTGGAACCTCTCTGACCCTATTCTGGTTTGGGGGGATACCCAATTTGCAAATTTTTCATTGCTCAATTAAACTTTGCTGAATTTAATACGTCTAAGGTTTTTCTCTTATCACTAGATTCTTCTGGTGCCTGCTCATGCCTTCTCTGGGCCAATAAGCAAGTGCCATTTTCCAGTAAGGAAGGATTATATCCTGCTATTGCTACAGAAGGGCTGGGCTCCCTGCTAAACTCCACCCTCAAGCCAGGAAACTTGGCCCTAAGTGAAAACAGCTGACCCTGATACAGAAGGGCTGGGCTCCTGCCTAAACTCCACCCTTCAGCCTGGAACCTTGGCCCTAACTGAAAACAACTGATCCCAGTTTTCCACCCAAATTATTGCCTTTTTGGCCTGCCATGCCCCTATCCTGTGCCCATAAAAAGACTTCAGCTAGCAGCTGATGCAAATGATTGGGGTTACCAGCTGCTGAGTGTCGGGGCTGCGTGCTGCTGAGCAGCTAGCAGAGAAGCAGCATTGAGTGTCAGAGAACACAGACATGGCTAACTTCACATCATGTGGCTTCAAGGAAAGATCACCTTCTTCCTGCACACCATCCCCTTTCCAACTCCCATCCCACTGAGAATCGTCACCCAATAAAATCCTCTGCATATACTACCCTTCAATCCGTTTGTGTGACCTAATTCTTCCTGGACGCCAGACAAGAACCTGAGTGACGAGAGGGCAGGGGCTTGGATGCTGTGGGGCCTGCACAGAGCCTGCTCCCACCAGAGAAGAGTGACTGGCCAGTTCCAGCATTCATTCCCTCTTGTTCCCACACTCACTTGTATGCACACACCCTCTTGAGAGGAGTGGCCAGTGGCAGGCTGAGTGAAACGAGCCACTCCAGTTCCTGCCCATGAAGGGGGTCAAGGGAACAATCCCATCTCACTATCAGGCATATTGAGGCAGAGCGTTCTCCTGTGTTTTCAGTGTCATTGACATAACAATCCTCAATATTTTGGGGAGAAATATTTTGGTTTTCTTTAATACAAACACACTTGGGATGTTCCTATGTGGGTAGGCTTTGGGGGAAGATCACCAGGGCATGGCTTGCAAAGCAAAAATCACAAATGCATTTAAGCTCAAATTAGGCTTAGAATAAAGGACTATGTGTAGAAGGTATAGTGAAGTCACAGGCTTTGCATAACCATAAATGTACTAACTTTGTTTTGCTACTAGTCACTCCTCTATGAAATGATTGATTTCTGACTGCTAGCAATCTTGACAAATCTCATATGTTACCTGTCTGTAGATGCTTTTTCTTTTTGTTAAACACAAGATTTGTCAGTCAGTAACCGAGTACTCCACTTCTAAATTTTTCTTTCTACCTTCCTTTTCCCTCCTTACTTAGTAACAAAATTATAACCTCTTCCCACTAGGCACCTCACCCCCTGCAGAATGTTTCCCTTATCTAATTATATGCTTGCTTAGAAGTTCCAGGAACTGAAACTTCAAACAATCTGGCACCAACAGAATTCTCATCCACCAGGAGATTACCTCAAGGCTGCAGTTAATTAACCTGATTGTGCCTGGGATGGCATCAGCTCATTCATCAAATGAGACAATAATGCGTAAGTCGTTGGAACAAGTCACATAGACCAGCACCTCCTTGGCCCTCCTGCATGCCCCACATTCCAAGCTCCCCTTTTTAAGCCTTTGTGTTTTTTTGTCCAAAATTTAAAATGATTTAAGATAGGAGCCTGGACCATTTCCCCATTGCTAGCTTTCAAAAATGAAGTTACTTTCCTTCCACTGTTCCTCCTTGTTATTTAGTTCTGCAAGCAGTGATCGGTTGGACCTGCATTCAGTTACAAGTTAAAAGGTCATTGTTTAGCAAAGATATGAAATCAACCTAAATGCCTGTCAATGGTAGACTGGATAAAGAAAACGTGGTACATATACCTCATGGAATACTACACAGCCATAAGAAAGCACAAGATTATGTCCTCTGCAGGAACACTGATAGAGCTGGAGGCCATCATCTTTAGCAAACTAACGCAGAAACAGGAAATCAAATACTCCCATAAGTGGGAGCTACATGATGAGTACACTTGGACACAAAGAAGGGAACAGCAGACACTGGGGCCTACGTGAGAGTGGAGGGTGAGAGGAGGGAGAGGATCAGAAAAAAATAACTATTAGACCCCAGGCTTAGTAGCTGGGTGATGAAATAATCTTTTCAACAAACCCCCATGACATGAGTTTACCTATGTAACAAACCTGCACATGTACCCCCAAACCTCAAATAAAAGTTTTTTAAAAGACAAAAATGATTAGTTGGAGAAGAAAATGGAGGGGAAAGGTCATTGTTGTTATTCATAGAAAAGTATTTGCATTTTTTTAGGAATTCACCAATTTCAACTGACATTTGTTTTTAATAAAAAATGTACATGTCCTGAGAGACTGAGCAAGATGGCAGAATAGAAGCCTATACCATTTGTCCCCTCTGCTGGAACATCAAATTTTAACAACTATCTGCACACAGAAAAGCACCATCATAAGAACCAAAAATCAGGTGAGTAATCACACTACCTGGTTTTAACTTCATATCACTGAAAAAGGCATTGAGGAAGGCAGGAGAGACCGTTTTGAATCTCCAAAGTCACGCACACCCCCGATTCCCCTATAGCAGCTGTGTGGCACAGAGAGAATCTGTGCACTTTGGAGAGTGAGAGCTCAGTAACAGCATCAGTTGAACTCATTGCTGCCCGTCACAGTGGAGAATAAAGCCGTGCTGGGCTCAACCAGTACCCACGCATGGAGGGAGCATTTGGACCAGCCTTAGCCAGAGGAAAATTGCCCATCCCAGTGGTCAGAGCTTGAGTTCCTTGGGAAGCCTCCCTACCATTTGTCGAAGTGCTCTGGGGTGCAAGGGAAACTTGAAAGACAGTATAGGACACAGGACTGCAATTCCTAGGCAACTCCTAGTGCTAGGCTGGGCTTAGAGACAGTGAACTAAAGTGACATGTGACTTAGAGAAACACCAGCTGGCATAGCTAAGGGAGTGTTTGCACCACCCCTTCCCAAACTCCAGGCAGTGCAGCTTGCAGCAATGAAAATGACTCCTTCTTTCTGCTTAAGGAGAGGAGAACAAAGAGTAAAGAGGATTTTGTCTTGCATCTTGGATACCAGGTCAGCCACAGTAGGATGGCAAACCAGTCAGAGTCATGAGGCCTCCATTTCAGCCCCTAGCTCCTAAATTACATTTCTACACACCCCCTGTGCCAAAAGGAAACCTACTTACTTGAAGGGAAGGACTCACTCCTGGCAAGATTCATCACCTGCTAACTACAGGAACCTTGGGCCCTTAATAACCAGCAGTAATACCTAGGGAGTACACCATGGACCTTGGGCTCTGAGATGTGCTGGCTTCAGGGGTGATCCAGCACAATCCCAGCTGTGGTAGCTATTGTGAAAGACTCCTGTTTGGGAAAAGCAGAGGGAAAAGTAAAGGGGACTTTGTCTTGTATCTTAGGTACCAGCTCAGCCACAGTGGAGCAGAGAAACAAGCAGATTCTTGTGGTCCCTGAGTCCAGGCCTAGGCTCCTGGAAAGAACTTCTGGAAATTCCCTGGGTGAGAGGGGAGTGCACTGCCCTGAAGGGTGAGTCCGAGGCCTGGCAGCATTTACCATCAGCTGATGGAAGAGACCTTGGGCTTTAAGTGAACATTGGTGGTAGAGTGACAGAACCCTCCACAGACCAGTAGTGGCGGTGGCCACAGGGTGAGGCTCCTCTGCTTGTGGAAAGGTGAGGGAAGAATGGGAAGGACTTTGTATTGTGGCTTGAGTTCCAGCTTAGCCACAGTAGACTAGAACATTAGGAAAATTGCTAAGGTTTTTTATTCCAGTTCCTGGCTCCCAGACAGCATCCTGGACATACCTGGCTTCTGGGGGAACTTGCTGCCCTGAAGCAAAGAGTCTTGGGTAAGGTATAGTACTGTGCTGGCTTCAGGTCTGACCCAGTGCAGTCCCAGTGTTGGTGGCCACAGGGGTGTGTATATCACCACACCCCCAGTTCCTGGTGGCTCAACACAGACAGACTTTGTTTGAGAGAAAGTAAAGGGAAAGAACAAAATTTCTGCCTTGTAATCCAGAGAAATTTGTCAGATCTTATCCAAGACCACCATGGTGTATCTCTATAAGCATACAAAAACACAGCATTATTGGGCTTGGGGCCCAAGTTTTTTTGAATACCTGGAAAGCTTCTCAAGAAGGACAGGGACAAATAAGCTCAGACTATGAAGACTACAATAAATACCTAGTTCTTCGATGCTCAGATACCAGCAATTATCTACAAACATCAACACCATCCAGGAAAGCATGACCCTACCAAATGAACTAAACAAGGCACCAGGAATCAATCTTTCAAAAACAGAGATGTAAGACCTATCAGATAGAGAATTTTAAATAGTTTTTTTTTTTTAGATAGCTCAAAGAAATTTGAGATAACACAGAAGGAATTCTGAATTCTATCAAATTCAATAAGGAGATTGAAATAATCAAAAATAATCAAGCAGGAATTTTGGAGCTAAAAATGCAACTGGCATAATGAATAATACAGCAGAGACTCTTAATAGCAGAACTGATCAAACAGAAGGATTAGTGAGCTTGAAGACAGGCTATTTGAAAATACACAGTCAGAGGAGACAAAAGAAAACAGGTGAAAAAACAATGAAGCAGGCCTACCAGGTATAGAAAATAGCCTCAAAAGGGCAAATCTAAGAGTTACTAGCCTTAAAGAGGTGATAGAGAACAAGATAGGGTAGAAAGTTTATTCAAAGGTTAGTAACAGAGAAATTCCCAAACCTAAAGAAAAAGGTCAGTATCCAAGTACAAGGTTGTAGAACACCAAACAGATTTAACCCAAAGAAGATTACCTCAAGACATTTAATAATCAAACTCCCAAAGGTCAAGGATAAAGTATCCTAAAAGCAGGAAGAGAAAAGGGACAAATAACAAACAATGGTGCTCCAATACATCTGGCAGCAGGCTATTCAGTGGAAACCTTAAAGGCTAGGAGAGAGTGGCATGACATATTTAAAGTGCTGAAGGAAAAAAATACCTTTTACCTAGAATAGTATATCCGGTGAAAATATCCTTCAAACATGAAGTAGAAATAAAGACTTTCCCAGACAAAGAAAAGAGGAGAGCTTTCATTAATACCAGACCTGTTCTACAAGAAATGCTAAAGTCAAGTTTTGAATTTGAAAGAAAAAGATGTTAATGAGCAAGAATAAATCATCTGAAGGTACAAAACTCACTGGTATTAGTAAGCACACAGAAAAACACAGAATAGGATAACACTGTAATTGAGGCGTGTAAACTACTCTTGTCTTAAGTAGAAAGACTGAATGATAAGCCAATCAAATATAATAACTACCACAACTATTTGAGGCATAGACAGTACAATAAAACATAAAGAAGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTCTGAGAGGCCAAGGTGGGTAGATTGTTTGAGCCCAGGAGTTCAAGAACACCCTGAGCAACAGAAATCCTGTCTCTTTAAGAAATACAATAATAATAAATTAACCAGGTGTGATATTGTGTGCCTAGAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGTGTCACTTGAGCCCTGGAGGGTGAGGCTGCAGTGAGCTGTGATCATGCTGCTGCTCTCCAGCCTGGATGACAAAGCAAGACCTTGTCATTAAATAAATAAATAAATACATCAGACATAAAGAGAAAGTTAAAAAGCAGGAGGATGAAGTTTAAGTGTAAAGTTTTATTAGTTTTCTTTTTGCACATTTTTGTGTGTTTATGTAATTGGCGATGTCATCTGTCGAAAATAATGGATTATAATATTTGCAAGCCTCTTGATAACCTCAAATCAAAAAACAAATACACAAAAAATAAAAAGGAAGAAATTAAATCATATCACCAGAGAAAATCACCTTCACTAAAAGAAAGACAGGAAGGAAGGAAAGAAGAAAGAGAAGACCACAAAGCAATCAGAAACAAATTTTTAAAATGGCAGGAGATAGTCTCTACTTATCAATAATAACATTGCATGTAAATGTACTAAACTTTCCAATAATATGACATAGAATAGCTGAATGGATGAAAAAAACAAGACCCAGTGATCTTTTGCCTATAAGAAACACACTTCACCTATAAAGACACATATACACTGAAAATAGACAGAAAAAGATATTCCATGACAATGGAACCAAAAAGAGCAAGAGTAGCTACACTTATATTAGACAAAATAGATTTCAAGAAAAATATTGTAAGAAGAGACAAAGAAGCCATTATATTAACGATATAGGAGTCAATTCAGTAAGAAAATAATAACAATTGTAAATATATATGCACCCAACACTGAAGCACCCAGATATATAAAGCAAATATTGGAGCTAAAGACAGTGACAGACCCCAATATAGTAATAGCCACACTACTTCAAAGCACTACTTTGAGCATTGGACTAACCTCTCAGACAGATAAATCAACAAAGAAACATCAGACTTAATCTTCACTGTACAAATGGACCTAATAAATATTTATAGAACATTTCATTCAATAGCTGCAGAATACACATTCTTCTCCTTAGTATATGGATCATTCTCAAGGAAAGACCTATGTTAGGTCACAAGTCTTAAAACATTCTAAAAAACTGGAATAATATTAAGCACTTTCTCTGACCACAATGGAATAAAACTAGGAATCAATAACGAGAAATTTTGGAAACTACAAATACACAGAAATTAAATATGCTCCTAAATGACTAGTGAGTGAATAAGGAAATTAAGAAGGAAATTGAAAAACCTTTTGCAACAAATAATAACGGAAACACAACATTCTAAAACCTATGGAATATAGTGAAAGTAGTAATAAGAGGAAAATTTATAGCTATAAGTGCTTACGTCAGAAAAGAAGAAAAACTTCAAGTAACAGAAATGAGTAGTATCAACATGAACAAAAAAGATGTCTACCCAGAGACCCCATCTGAAGGTCACCAACTCCAAAGACCAAAGGTAGGTAAATCCACAAAAATGAGGAGAAACTAGCGCAAAAAGATGGAAAATTCCAAAAACCAGAATGCTGCTTCTCCTACAAAGGATCACAACTCCTTGCCAGTAAGGAAACAAAACTGGACGGAGAATGAGTTTAACAAATTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGATAAAGGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTACATGAATTGCTAACTAGAGTAACCAGTTTAGAGAAGAACATAAATGACCTGAGGGAGCTGAAAAAAAATCATGAGAACTTCATGAAGCATACACAAGTATCAATAGCTGATGGATCATGTGGAAGAAAAGATATCAGAGATTGAAAATCAACTCAATGAAATAAAGCAAGAAGACAACGTTAGAGAAAAAAGAGTGAAAAGAAATGAACAAAGCCTCCGAGAAATATGGGACTACATGTAAAGACCAAATCTACTTTTCATTGGTGTACCTGAAAGTGATGGGGAGAATGGACCAAGTTGGAAAACACTCTTCAGGATATTATCCAGGAGGACTTCCCCAACCTAGCAAGACAGGCCAACATTCAAATTCAGAAAATACGGAGACCACCACAAAGATACTCCTTGAGAAGAGCAACCCAAAGACACATAATAATCAGATTCACCAGGGGTGAAATGAAAGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCAGGTTACCCACAAAGGGAAGCCCATCAGAGTAACAGCAGATCTCTTGGCAGAAACCCTACAAGCCAGAAGACAGTGGGGGCCAATATTCCACATTCTTAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTGAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAGACAAGCAAATGCTGAGAGATTTTATCACCACCAGGCCTGCCTTATAAGAGCTCCTAAGGGAAGCACTAAACATGGAAAGGAACAACTGGAACCAGCCACTGCAAAAACATACCAAATTGTTCCATGGATGCTATGAGGCAAACGCATCAACTAATGGGCAAAATAACCAGCTAGCATCATAATGGCAGGATCGAATTTGCACATAACAATATTAACCTTAAATGTAAATGGGCTAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGATCCATCAGTGTGCTGTATTCATGAGACCCATTTCATGTGCAAAGACATACATAGGCTCAAAATAAAGGGATGGAGGAATATTTACCAAGCAAATGGAAAGCAAAAAAAAAAGCAGGGTTTGCAATCCTAGACTTTAAACCAACAAAGATCAAAAGAGGCAAAGAAGGGCATTGCATAATGATAAAAGGATCAATGCAACAAGAAGAGCTAACTATCCTAAATGTATATGCACCCAATACAGGAGTACCCAGATTCATAAAACAAGTTCTTAGAGATCTACAAAGAGATTTAGACTCCCACACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAGTGAGACAGAAAATTAACAAGGATATGCAGGACTTGAACTTAGCTCTGGACCAAGTGGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAACATACATTCTTCTTACCACCACATTGCACTTATTCTAAAATTGACCACATAATTGGAAGTAAAACACTCCTCAGCAAGTGCAAGAGAACGGAAATCATAACAGTCTCTCAGACCACAGTGCAATCAAACCACAACTCAGGATTAAGAAACTCACTCTAAAGCACACAACTACATGGAAACTGAACAACTTGCTCCTGAATGACTACTGGGTATATAACAAAATTAAGGCAGAAATAAAGATGTTCTTCGAAACCAATGAGAACAAAGACACAATGTACCAGAATCTCTGGGACACATTTAAAGCCGTATGTAGAGGGAAATTTATAGCTCTAAATGCCCACAAGTGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTAGAGAAGCAAGAGAAAATAAATTCAAAAGCTAGCAGAAGACAAGAAATAACTAAGATCAGATCAGAAATTAAGGAGATAGAGACATAAAAAACCCTTAAAATAAATCAATGAATCCAGAAGCTGGTTTTTTTGAAAAGATCAACAAAATAGATAGACCACTAGCTAGACTAATAAAGATGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAGATGATAAAGGGGATATCACCACCGGTCCCACACAAACAGAAACTACCATCAGAGAATACTATAAACACCCCTACACAAATAAACTAGAAAACTTAGAAGAAATGGATAAATTCCTGGACACATACACCCTCCTAAAACTAAACCAGGAAGAAATCAAATCCCTGAATAGACCAATAACAAGTTCTTAAATTAATGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCACACAGATTCACAGCTGAATTCTACCAGAGGTACAAAAAGGAGCTGGCATCATTCCTTCTGAAACTATTCCAAACAATAGAAAAAGAAGGAATCCTCCCTAACTCATTTTATGAGGCCAGTATCATCCTGATACCAAAACCTGGCAGAGACACAACAAAAAAAGCCAATATCCCTGATGAACATCAATGCGAAAATCCTCAATGAAATACTCGCAATCCAAATCCAGCAGCACATCAAAAAGCTTACCCAACATGATCAAGTTGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAACGTAAACCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAACAGCCCTTCATGCTAAAAACTCTCAATAAACTAGGCACTGATAAAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATGTACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGGCAATCAGGTGAGAGAAAGAAATGAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCTCTGTTTGCAGATGACATGATTGTATATTAAGAAAACCCCATCGTCTCAGCCCAAAAATTCCTTAAGCTGATAAGCAACCTCAGCAAAGTCTCTGGATACAAAATAAACGTGCAAAAATCACAAGCATTCCTATACACCATATAACAGAGAGCCAAATCATGAGTGAACTCTCACTCACGATTGCCAAAAAGAGAATAAAATACGTAGGAATGCAACTAACGAGGGATGTGAAGGACCTCTTCAAGGACAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGCAGACATTCCATGCTCATGAATAGGAAGAGTCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGATTCAATACTATTCCCATCAAGCTACCAGTGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAGGAGCCCACATAGCCAAGACAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAACCTATACTACAAGGCTACAGTAACAAAAACAGCATGGTAGTGGTAGAAAAACAAATACATAGACCAATGGAACAGAACACAGGCTCAGAAATAACACCACACATCTACAACCATTTGATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAACTGGGTAGCCGTATGCGGAAAGCCTAAACTGGATCTCTTCCTTAGACCTTATACAAAAATTAACTCAAGATGGATTAAAGACTTAAATGTAAGACCTAAAACCATAAAACCCTAGAAGAAAACCTAGCCAATACCATTCAGGACATAGGCATTGGCAAAGATTTCATGACTAAAACACCAAAAGCAACAGCAACAAAATCCAAAATAGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCCAAAGAAACTATCATCAGAGTGAACAGGCAACCTACAGAACGAGAGAAAAATTTTGAAATCTATCCACCTGACAAGGGCTAATGTCCAGAATCTACAAAGAACTTAAACAAACTTACAAGAAAAAAACCACCCCATCAAAAAGTGGGTGAAGGATATGAACAGACACTTCTTAAAAGAAGACACTTACGCAGCCAACAAACATATGAAAAAATGCTCATCATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGACAATCATTAAAAAGTCAGGAAACGACAGATACTGAAGAGGATGTGGAGAAATGGGAATGCTTTTACACTGGTGGTGGGAGTATAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCAGTGATCCCATTACTGGGTATATACCCAAAGGATTATAAATAATTCTACTATAAAGACACATGCACATGTATTTTTATTGTGGCACTGTTCACAATAGCAAAGACTTGGAACCAATCCAAATGTCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGTCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATAATGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACACCACATGTTCTCATTCACAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACACCAGAGCCTGTCATGGGGTTGGGGGGCCAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGGGTGCAGCAAACCACCATGGTACTTGTATACCTATGTAACAAACCTGCACGTTCTGCACATGCACCCCAGAACTTAAAGTATAATAAAAATAAATAATATAATGATGCATCTTAAAAACTAGATAAGCAAGAACAACTGAACCCAAAATTAGTAGAAGAAATAATAAAGATCAGGGCAGAAATAAATAAATTTGAACTTAATACAAAAAAACCAATTAAACAAAAATTTAGTTTCTTGAAAAGATAAACAAAACTGTGACTAACAAAGAAAAAAAAGAAGAGGACCCAAGTAAATAAAATTAGAGATGAAAAAGGAGACATTACAACTGATACTACCCAAATTCAAAGGATCATTAGTGGATACTGTGAGCAACTATATGACAATAAATTGGAAAGTCTAGTAGAAATGGATAAATTCCTAGACCCATACATCCTACTAAGATTGAACCATGAAGAAATCAAAACCCCAACAGACCAATGACAAGTAATTACATCAAAGCTGTTATGTTTCCCAGTAAAGAAAAACCCAAGACTTGATGGCTTCACTGCTGAATTCTACCAAACATTTATAGAACTACTACCGACTCTACTCAAACTCTTCCAACAAATATAGGAGAAGAGAATACTTCTAAACTAATTCTATGAGGCCAATATTACCCTGATACCAAACCCATACCAAGTCACATCAAAAAAACAAAACAAAATAAAAAATACAGGCCAATGTATCGGATGAATGCTAATTTAACAATCCTCAACAAAATAATAGCAAATAGAATTTAAGAATACATTAAAAAGATTGTTCATCCTGACCAAGTGGGATTTATCCCGGGGAAGCAAAGATGGTTCAACATATGCAAATCAATGTGATATATTATATTAACAGAACGAAGGACAAAAACTATATGATCATTTCAAATGATACTGAAAAAGCATTTGATAAAATTCAACATCCCTTTATATAAAAGCCCTCAGAAAACATCATAAAAGCCATATATGACAGACCCACAGCTCATCTCATACTGAATGGGGTAAACCTGAAAGCCTTTCCCCTTAGATCTGGAGATTTAAGGATATCTGCTTTTGCCACTATTATTCAACATAGTACTGGAAGTTCTAGCTAGAGCAATCCGACAAGAGAAAGAAATAAAGGACATCCAAATTGGAAAGAAAGAAGTCAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGTATAAACCTAATGACTCCACCAAAAACTATTAGAACTGGTAAACAAATTTAGTAAAGTTACAGGATACTAAATCGACACTAAAAAAATAAAATCAGTAGCGTTACTAAATGCCAGTAGTGAACAATCTGAAAAAATTCAAAAAAGTAATCTCATTTACAATATCCACATATAAAATTAAATACCTAGGATTAACTTAACCGAAGAAGTGAAAGATTTCTATATGGCAACTATGAAACACTGAGGAAAGAAGTTGAAGACACAAAAAAAGAAAAGTTACTCCACGCTCAAGGATTGGGAGAATCAATATTGTTAAAATGTGCATATTATGCAAAGCAATCAATAGATTCAATGCAATCCAAATCAAAATACAAAAGACATTCTTTAAATAGAAAAAAAATCCTAAAATTTCTATGAAACCACAGAAGGCCCAGAATAGCCAAACTTACCCTAAGCAAAAGTAAAAGAATCACATCACCTGATTTCAGTTACACTATAAAGCCATAGTAACAAAATCAGCATGGTATTGGCATGTAAACACATACATAGACCAATAGAACAGAACGGATAACCCAGAAATAAATCCACACACCTACTGTGAACTCGTTTTTGACAAAGGTGCCAAGAACATATACTGGGGAAAAGACAATCCGTTCAATAAATGGTGCTGGGAAAACTGGATATCCATATGCAGAAAAACGAAACTTGACCCCTATCTCTTACCTTGAAAATCAAATAAGAATGGATTAAATACTTAAGTAAGGTCTCAATCTATGAAAGTACTGTAAGAAAAACATTACAGAAACTCTAGGGCACTGGACCAGGGAAAAATTTCTTGAGTAATACCCAAAAAGTACAAGCAAACAAACCGAAAATGGGCAAATGGAATCACATCGAGTTAAAAAGCTTCTGCACAGCAAAGGACACAGTCAACAAAGTGAAGAGATAACCCACAGAATGGGGAAAAAATTGCAATCTACCCATCTGACAAGGGATGAATAACCAGAATATATAAAGAGCTCAAACACTGTAGAAAAAAATCTAATAAGTTAATTTAAAAATGGGCAAAAGCTTTGAATAGAAATTTTTCAAAAGAAGACATTAGGGTGGTAAACAGGCATATGAAAAAGTGCTCAACATCACTGATCAGAGAAATGCAAATCAAAACTACAGTGAGATATCTGCTCAGCCCAGTTAATATGGCTTATATTCAAAAGACAGACAATAACAAATGCTGGTGAGGATGTGGAGAAAAGGGAACACTCATACACTGTTGGTAGGAATGTAAATTAGTACAACCACTATGGAGAAGAGTTTGGAGGTTCCTCAAAAAACTAAAAATACATCTACCATATGATCCCGCAATCCCACTGTTGGGTATATGGCCAGAAGAATCTGCACTCCCAAATTTGTTGCAGTACTGTTCACAATAGCCAAGATTTGGAAGCAATCTAAGTATCTATCACCAGAGAAATGGATAAAGAAAACATGGTATATTACACAATGGAAGACTATTCAGCCATTTAAAAAAGGAGGAGATCCTATCATTTTCAACAACATAGATGAAATTGGAAATCATTATGTTAAGTGAAATAAGCTTGGCACAATCGCATGTCCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCATGGACATAGAGGATGGAAGGATGGTTTCCAGAAGCTGGGAAGGATAGTGGAGGTGTGACAGGGAAGGTGGGGATGGTTAATGGGTACAGAAAAAAGTAGTTAGAATGAATAAGATCTAGTATTTGATAGCACAATAGGGTGACAACAGTCAATCGTAATTTAATTATGCATTTAAACATAACTAAAAGAGCATAACTTGTTTGTAACACAAAGGATAAATGCTCAAGGGGGTGCATATCCAATTTTTATTATGTAATTATACAATGCATGCCTGTACCAAAATATCTCATATAGCCCATAAACATACCTGTTACATACCCACACAAATTTTAAAAATAATTTTAAAAAAGAAAATTTATATATTTTGTGATATCTAATTCAAATGTCTTTAGAGTTATACTGAAAAATACATATAGCTTTCTATCTCAGAGCCAAAGTAATAAAAAATCAAATTAAGTTGAAGAGGTGAATTGGAGACTATTTTGAGTAGGTAATAAAGCAGATAATATGTATAACCTACACTCCTGAACAAGGGCTCTTTATTTAAAAGTTTTGAAGCTCATGATACAGTGACATTAAAAAAGGGCTTGGTATGACAGAAAAGTCAGGGAGAGGGACCTTCTGATATCTACAGTCTACGCTATCTGTAGCCCAAATCTACTGTCATCCAAAACTTCAAGGAGCTAGATGTGACTATTTTCCCTGGCATAAACATATTTAACTCTGGGAAGATTTGAGGTTATGCATAGAAAGTTTAAGTTTTATATTTAACTTGGTATTTTATGTATTTATAATTTTAAGTACAATTAGGCTTATCAGAGCATATAGTTCGAATTTAAAATGTAAAATAGAATAACTGGATTCAAATTTATGATCTTAAAGTAAAATCTAAGTTTATAAACAATTTTGAAACACCTAAGATAACTTCCACTCAACATATTCCTGACTTTGATATTAGCTTGTGAGAGTTAACTTCAGGTCTAGGAAAATTTTGGTTGAACTCAGATAACTAATTTAGGAAGAAAATTAAAAATGATAGATGTATAAATGTAAATGCTTAAAATATTTGAAGGTGTTTACTTAGCTAAGCTTTTAACAGACCAAACATTTTCTAATGACAACTTAAAAACATTTCTAACATTGGCTAGATTTAAACATTGAATAATAAGATTTTTAGGTTTAAGGAATACATGGAGTTTTAATTCATTATTTTAATAATTTGAATATCAATTTTTAACTCCAAATGAATCTCAGAAGAAATCTTTCCTGGATTTAAAAGCCAATGTTAAAAGGCTATTCTACCAAAAACTATTCGCAGTTAAACCTTGAATCTACATGATATTTATCCCTCTGTATTGTGTAAGATAGAGATCCAAGTTCATTTTTCGTGTATGAATAAACAATTGTCTCAAAACTATTAAGTAGTAGTCTATCCTTTCTTCAATGTCTGCTTCCCCATTTGGCCAGTGTTGAAACAATGCCTGGCTGACATAATTACTTCAGTGTCATATAAAGTTTATATATACGATGCAGCAAATTCTACACTTTTAAGTTTTGTCATTTTGCTATTCCTCATCAAATTTAGAATCAACTTGTTAGGCTCTAAGGAAAATCCTATTGTAATTGCATTGAATTATAAAATATGGGGTAAGATTGACATCTCTACAACATTAATAGCACATTATATGTCTTTATTTAGGTCTTCTTAAATGCCTCTCAGAATGTTTCTATAATTTTCTTCATTAAAGACGGAAACTTGTTTGTTAGATTTGGTCCCAGGGGCTATTTTGTTATTGTTGTTGGTGCTGCTATAATAGTTTATGGAAATTAGTTTCTAACTATCTGATATGTGTAAATCAAAACAAATGATTTTTTTTTACTGATTTCTTTTATTATTTCAGTTCTTTTATTTTTTTAATTTTATTATTATGATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCAAATGCTATCCCTCCCCCCTCCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAATGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGCTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCTCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTGTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGACGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCGTTTATCAGATTTTCATATATTAATATTATGTTTGAAAATTTTGCAACTCTTCTTAAAAGTTTTTATTTTAAAATAAACTTTATTAAGGAATAATTTATACATGATAAAAGGCATCTATTTCAGTATAGAGTTCTATGAGTTTGGAAAAATGTATATAGTCTTGTTACCACCATCATAATCAAGATATAGAACATTTCTATCATCCCAAACAATTTTTCACCTCTTTATCAGTCAGCATCACCCCACTCTTTGGCCCAGAAAACCACAAATCTGCTTTCTGTAATTAAAGATTATGCTGTGTGTTCTAGAATTTCTCAAACATGAAATCATCCATGTTGTTCCAATAATATCGTTAACCTTTGTGTCCCCGCCAAATCTCAGCTTGAATTGTAAGCCCCATTATCCCCATAAGTACTACATAGACTGGAGAGCCTCAGCAGGGTAAGCGCCAAATCCTAAAGATGACCTGTTCTCAAGAGGCTGTTGTATGGGGAGCCAAAGAAAGAGTGAGAAGCCACCAGTGGAGTAGGCAGAAGACTAATAAAGCTTGTTTCTCAAAGGTGTCTGCAGGTTCAGATGTACTTGAGATGAGATGCTTGCTGGATTCCTGGGCTCCAGCCCAGACCTTAAGAATCAACCTTTGGAAGTGAGACCTGAGAATCTAATTTTTTGAAAAAGTTGTCAGGTTATTCTTATGACTATCCCTACAGTACAGGTTTGAGTATCCCTTATCTGAAATGCTTGGAACCAGAAGTGTTTCAGATTTCAGATTTTGGAATATTTGCATATATATGCAATTATGTATATATAATATGTGGTTATATATATTAATATATATTAAAATATATTTATATATTATATGAAATATATAAAAATATATGTAAAATGAGATATCTTGGGGACAGGACCCAAGTCGAAACACAAAATTCATTAATGTTTGATATACACTTTATACACATAGTCTGAAGGTCATTTTATACAATTTTAAACAATTTTTTTATGTAAAAAAAGTTTTAACTGTGTTTTGACTTCGACCCTTCACATGAGGTCAGGTGTGGAATGTTCCACTTTTGGTATCATATCCGCACTTAAAAATGTTCAGATCTTGGGGATTAAAGACTTAAATGTAAAACCTGAAACTATGAAACTACGAGATGAAAACATCAGGGAAATGCTTCAGAACATTGGTCTGGGCAAAGATTTTATAGGCAAAAATCAGAAGCAACAAAAGCAAAAACAAATAGGGTTACATCAAGCTAAAAATCTTCTGCACAGGAAGGAAACAATCAGAGTGAAAAGACAACTTACAGAATGAGAGTAATATTTGCAAACTATCCATCTGACAATGGATTACTAACCGGGATATATAAGGGACTCAAACGACTCAATAGCAAAATAACAATCTGACTTTTAAAATGGGCAAATGATCTGAATAGATGTTTCTCAAAGAAGACATACAGAGGGCCAACAGGTATATGAAAAAAACTTCAACATAATTAACTATCAGAGAAATGCACATCAAGACCACAGTGATATATCATCTCACCTCAGTTAATATGGCTATTATCAAATAGACAAAAAATAACAAATGCTGGTGAGAATGTGGAGCAAATGGAACTCTCATACGCTGTTGGTGGGAATGCAAATTAGCATAGCTATCATGGAAAACATTATGGAGATTCCTTAAAAAACTAAACATAGAGCTACCATATGATCCAGCAATTCCCACTGCTGGGTATATAGCCAAAAAAAGAAAAAAGAAAGAAAAGAAAAGGTATCAGTATGTCAAAGAGATGTCTGCATTCCCATGTTCATTGCAGAACTATTCTCAATAGCCAAGGTATGAAATAAACCTAAGTGTACATCAACAAGTGAATGAATAAAGAAAATGTGCCATATATACACAATGGAATACTATTCAGCCATTAAAAAACCAAAATCCTGTTATTTGCAGTAACATGGATGAGCCTGGAAGACATTATGTTAACTGAAATAAACCAGGCACAGAGAGACAAATATTGCATGTTCTCACTCATGTGTGGGAACTAAAACAGTTGACCTTATAGAGGTAGAGAGTAGAATGCTAGTTACCATTCTGGTATGTACCAGAGGCTGGGGAGGGTAAAGGGGATGGGAGGATGAAGGAAGGTTAGTTAATGGGTACAAAAATACAGTTAGATGGAAGGAAAAAGTTCTAGTAGCACAGTAGGTGACTGTAGTTAACCATAATTTATTGTATATTTCAAAATAGCTCAAAGAAAAGATTTGGAATCTTGCAACCCAAAGAAATGATAAATGTTTGAGTTTCTGGATATCCCAATTGCCCTGATTTGATGATTATATATTATATGCATGTATTGAAATATCACATGTATCCCATAAATATGTACAATTATTATGTATGAATTAAAAAATTCAAATTTTGGAGCATTTCAGATTTTTAATTTTCAAGTTAGAGTTGCTCAACCCATAGAGGGAAATGATGCCGAAACCAAGGCAGAAAATGTTTTCAATGGAGAAGTGGGTAATATTTTTATTTCTATAGAAAGTTCAAAGTCCACAGCATAGTCAAATAACATCTGTAGTGAAAACTGACCACTGGACTTTGCAACTAGATTATGTGTAGTCCCTAGTGAGAACAAACATTATAAAGCAGTGGAGGGCAATGCAGGTAAACCAGAGATTTCTTTCTAGATTGCAACCTCCCTTTTTCTGCAAAAAGAGAAATTGATGGTAAAAATTTGAGACTTTACAAATGTAGGTCTTTCTGCCAATTTTCAATATGATCCATGATTTTTATTTCTATAGAACTATGTGTCCTTCTCTCCCCTAAGAAATCAGTAATGCCAAACCTGGTTCTTCTAACCATTTATATATCTTAAGGTACCCTTTAAAAAAAATTACTTTCGCAAACATGTCTTTTTTTTTCTTTCTAGTTCAAATATAAGGATGTTTTTTCTCTTGATGATTAAATGTCACTAGAATGTATTCTGATGCTGAAGTCTGCTTATTATTTTTCTTCTGGAAGCTAAGTATCAATTTTTTGTTTTTAGCCTTTAAGTTCTGGAAAGTTTTCTTCAATTACACTCTTGATAAATTTCTACCTTTTGTTTCATACCCTCCTTTTGGAAATCTGATTAATCTTGGGTTGCTTCTTCATGTTCTGTCTTCTATAATTTTGCTATCCTCTCTTGAATTGTCATTTTTTATTATTTTCTTTTGCAGCTTGTATATGTATAGAGTCTGTTTTCTGTTTCATTAATCTGTTTTTGAAGCATTAATTCTACTACTCAAGATTCCAATGAGTATTTGTCACAGAATTTGTCCTGATCTCGTTTCACAATTGCTGCTATTGTCTATCTCCCTGAAAATAGATTACAGCTATTTCCAGAAGATTTGATGTTTCATTCTTCCTTTCTATGAGGAAAACCAAGCTCATGGATTAGAACTGGTGAAATAGAATTGCTCTTCCCTTTTCTGTTTCTTTTGCATTGACAGTTCCTTATGGAAGTCAGATTGTTTTCCTTTCTTGCCCACACTTTCTTTAGCTTACTTTGATAATTCTTAGTGATGTGGTAGGGCCATTGCCAATAAATACTCGAAATCTCACAGTCCTACCAGTTGCTCTGGTTGGCCATATGAAAAACTGCTTTAAAATCTCATTCTAGTAATTTGCTTTCAGTGGAAAACTCTACACACCTGAGGTTGGGCTTACTTGTAAGCACTGTAGAAGATCAATGACTGTGAATGACAGCAGAGAGCCTTGTTCACTTCCAACCACTTGATCTACTCAACTGTCAATCAAGTGCTTCCTTGCAGACTTCAAATTACAGGCTACTTTGAGGCCTCCTTTGTTTTTCACTGTGATCATCCATTTTAAGAAATTTGAAGGCATTAAAAGAAAACATTGGCTGCTTCGTTAAATCTCCTTGAGATCAGCCTTGAAGATGGACAGTAATGACGCAGCTGTGAGTTATATGGTTGTGATCACTCCTGTTCCATCTGTTGCCAGGACTGATTTGAGGAATCTGACCATCTAAGCAGGTTATTCTTTCTCTTATTTCTCTTGTCTGGCTCCATGTGTTCCATAGACTCAGCATAATTACTTGAGGGATGACTTAAATTATTAAGGAGAAAAATATAATACTGATTTTGTAAAAGGGAGTTTGGGTTAGATTATTTTAATAATATCCCTTAACATATTTGCTTCTTGGTGTCCAAGCCCTTTTGCAACATGACTGATGCCCCTTCCAACAGGAGGTGAAATCTATTTTCTCAGACCTTGAATCTGGCCTGGCCTCATGACTTGTTTTGACCAATAGAATGCAACAGAAGCAATGTCATGCGTCCTCAAGGCTAAGCCTTCAGAGAACTTGCCTTGACTTTCACTCTTTTAGGTCACCGCTGGCTTCTAAACAAACCTGGCTAGTTGCTTTTCTCTGCAGAGAGGAAAAGAAATCACAGGGAGAGAAAGACCCGGTAGAGAGAGTATCAGCTGTTTCAGTGCAACTACGGCCATGTGTCACTTAACGACAATACATTCTGAGATGGGACCTGGCCGGGGCTCTGGTGGAGGCATGAGGAGGGAGAATATCAGGAAGAATAGCTAATGGATGCTGGGCTTAATACCAAGGTGATGGGCTGACCTGTGCAGCAAACCACCGTGGCACACATTTACCTATGTAACAAAACTGCACATCCCTCACATGTACCCCAGAACTTAGAATAAAAGTTGAAGGAAAAAAAATACATTCTGAGAAAGGTGTCATTAGTTAATTTCATCATTGTGCAAACCTAGATGATACAGCCTACCATACACCTAGGCTGTATGGTAGCCCATTATCCTAGGCCATAAACATGTATATATGTTACTGTACTGAATACCATAAGCAATTGGAACACAGTGATAAGTATTCGTAAGTCTAACCATATCTAAACATAGATAAGGTGCCATAAAATACAATATAATAATCTTATGGGACAACCACTGTATAAATGGTTCATACTCGACCAAAACATTGTTATACAGCACATGTCTTAGTTGGATCCAGTTTATCAGCTGAACATAACCTCATGGCTGGACCACCCAGCCAACCAGCAGAATCCTGAGATGTAATTGTTGTTTTAGGGATGGTTTCTGACAAAAACACAGGAAACTAGAAATGGATTTAGCCTGGAGTTTCCCAGAAAGCAGAGCCTGAGGCAAAAGCTTATTCATACCTACTTTTCCAGGGAAAGCAGGGAAGGAGAGAAAGAGACAATACAGGGGTGTGTTACTAAGAAAGTGATCGATTGGTTACCTCATTTTGGGAAAGCATCTTCTAAGAGGCCATTTGAATTGCTACATCACAGGATAGTCCACCCAGAGGAGAGGCAAAGGAGAAGGGTTTATCTGCTGGCTCCTGTCTTCCATTAATGAATTAATTTAAAATTTATACCTTATAAAACGTAAACTGCTTCATTCTCCTAGTTTCCCATTTGCAAGAACTGAGCGGGTCCTGGAGAGTTTCACCCTTGGGTCCAACAGAGATATCTCAATGTGAGGGGAATTGCTCACTGCAAACTGCTATACAGTTGTGCCATTTAAAATGAGTTGCAGCCTATTCAGAGTTGGTTCCTGCAGCAGAATCTGAGAGTGTGGGACAAGCAGCCAGAGCCCCAGGGTCAAGTAAGGCCAAATAGATCAGAGGTGGTGCATGTGTCTGACATAGGACGCAACAGGTATTTGGTAGATTAATGCTGATTGAACCCATAATCAATCAGCAGTTCCTACCTGTATTAGTTTGTTCTCACATTGCTATAAAGAAATACCTAAGACTGGGTAATTTATACAGAAAAGAGGTTCAATTGGCTCATGGTTCCGCAGGTTATACAGGAAGCATGGAGGCATCTACTCAGCTTCTGGGGAGGCCTCAGTGTGCTTTTACCCATGGCAGAAGGCAAAGCCAGAGCAGGCGTCTTACATGGCAGGAGCAGGACCAAGAAAAAGAGGGAGAAGGTGCTACACACTTTTACAACAACCAGATCTCATGATAACTCACTCACTATCACAAGAACAGCACTGAGGGAATGGTGTTGAATCATTCATGAGAACTCTGCCCCCATGATTCAATTACCTCCTATCAGGCTCCATCTCTAACAATGAGGATTACAATGTGACATGAGATTTAGGTGGGGACACAGATCCAAACCATATCACTACCTAATATAATCTAATATAAACCTATTGTATTATTCTCAACTTCTATAAAGACATACCTTAGACTGGGTAATTTATGAAGAAAAGAGTTTTAACCAGCTCATGTTTCTGCAGGCTGTACAGGCTTCTGCTTCTGGAGAGCCCTCAGGAAAGTTACAGTCATGGTGGAAGGTGAAGGGGAAGCAGCAACATCTTACATGGCCAGAGCAGGAGGAAGAGAGGGAGAGATGGGGAGAGGGAGAGAGAGACATAGAAAGGGAGAAACAGAGAAAGGGAGAGACAGAGAAAGGGAGAGGGAGAGAGAGACAGAGAAAGAGGGAGAGAGAGAAGGAGAGACAGAGCATGGAGGTACTACACACTTTCAATCAGAACTTGTGAGAACTCTATTATGAAAACAGCAAGGGGGAAGTCCATCCCCATGATTCAGTCACCTCCCACCAGGTCCCTTCTCCAATACTGAAGATTACAATTCAACATGAGATTTGGGTGGAGACACAGAGCCAAACCATATCACCTATCTGATATAAGACTGTAGAAGCCTATAACAAAACTACACACATGCATACCCTATACACAAAACTCTTAGATTACAATGATATGACTTTCATCAATCTGTATTTAGATAATTTTTAAAGATGTTTTTCTCCTTCAAAAAATATGAAGTTTCTATTTCATTGTAGAAGTGATGTCAGAAGACAAGATTACAACAAATGTAAAGATCAAATTGGCTTTTATTGTGGTTCTAGAATGAGGCAACACCTCATTCTATAAAATTGAATGTTCTGTTGAGTTGAGAAGAGGCTGGCTTTATAGGCAGGAAAAGGCTGAAAAAAGCAGAAACAAAACAAAAGGTGGATTGGTTATTTCAAAGTTACTTTTCTTACAAGGCTAAAATAGAACTTTCTTCTTATGCTGACGGATTAAGTAGAATTTTCTATTTTTGTTTTGTTTTTAAACCAGCTTGTTTCAAAGTTTGATATGCTCATTGTGCCCTTAGCACAAGACTTCTGGTTTGGTCTGGTCTGCTGGGGCCTGGCGCAGAAGGCTAATTCAAAACAATGGCCTTCCATGTACTTTATTTAATAGTAATATATGCCCATTGTAACAATTCAAACCAGAGATATGTCACATCTCTTGATATAATTAATATTAACAGTATGGTCAAATAACTTATGCTTTCCCAAGCTTTGTATACATGTAGATTGATAGATACATGCATAAACCCACATGCACATGTGGTTTTAAAAATTTTTAAACAGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCAAGCACAGTGAAACCCTGTCTCTACTAAAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATTTTTAAACAAAAATAGGGTTTGACTACTTATACAGTAACTTGCTTAATTCCATTAAAAAATGTATCAAGATGAAGCCACTTTGGAAATCAGTGTGACAGTGATATGACTCAGTTACTCTACTCCTAATATATACCCAAGAGAAATGAAAACAAATGTTCACATAAAAATTTGTACACAAATGTTCATGGCAGCATTATTCATAATTGCCAAAAAGTATTAACAACTTAATTTCCCATCAGCTATGAATGGATTTTTTTAAATGCGGAGTATTCATACAATGAAATATTATTTGTCAATATAAAGGAACCAAGTACTGAAACATGCTACACTGGTGAACCTTGAAGACATTATATGAACTAAAAGAAGCCAGTCACAAAAGACCACATATAATTCCATTTATATAACATGTCCAGAACTAGCAAACTCACATGTTATAGACTGGATGTTTGCATTCCCCAGAATTCAGATGTTGAAATCTAACCCCCAGTTTAAGGTGGGAATTTGGAGAGGTGATTAGGTCATGACGGCAGAGCCCTCATGAATGGGATTAGAGCCCCAGTAACAGAGGCCCCAGAGAGCTCCCTTGCCTCTTCTACAATGAGAGGATGCAAGGCAAAGACCATTATGAACCAGGAAGTGGACCCTCACCAGACACCAAATCTGCCAATATCTTGATCTCAGACTTCCAGTCCTAAAAAGCCATGAGAAATACATTTCTGCCGTTTATAAGCCACCAATCCAAGGTATTTTTTTTTTTATAGCAGAATGGACTAAGACACCATGAAAGACAGAAAGCAGACTCATGCTTGCCTGGGGCTTGGTGGTGTTGGGAGAGTGAGAAAATGAAGAGTTTCTGCTAATGAATACAGGGCTTTTTCTTGAGGTGATGAAAATATTCTGAGAGTAGTACACAGGTCTGCGAATATACTAAAAACCACTGAACTGTATATCTTAAAGGAATGGATTTTATGATATGTGAATTATATATCAATTAAGCTGTTAAAGATGTATCATGGACATTTCACAGCTCATTACATGCAAAACGAGTGCATTCTTTTACGTAGTTGCAAAACAATACTCTGTATTCTGCATCTGGTGCAATTTATTTTAGCATTTTTATGTTAATTGCATTCAATTTTGTTTTTCCAGTTTTTTGCTATTAACAATGCTCCAATAAAATACTACTGTAGGTAAATGTTTTTGCCTAAGTTAGATAAGTACAACTAAAATTGTTGAATTAAATTGTATGTACCTATTTAATTTTAATAGATGCTGCTAGATTGATTTACAAAATGAAAAGAGCAATTCACCCTGATACCAACAGTAAATGAGACAGTCCATTTTCTTATACCCTAACCAACACTGAATGTAATCAATCTTTTTAACTGTTGCAAATAGGCCAATAACAGTGAGTCTTTGTTGTTTTAATTTGCATTAAAAGAACTTTAGTAAGATTAGACATGTTTTAATATATTAGATATTTGCATTTTTTCTTTCATACATTTTCTTTTATAATATTTAGTCAGGTTTTACTAGATTTTCTTTGGTACCTTTACTAATATGAAGGGTTTTCTAGTGTAGTCATGCTATGAACCCTTTGCCTGCGATGTTTTCCAAATGCTTTTTCCCCAATCTATCTTTTGGTTTTGGCTTTGCTCAGTATCTTTTGCCATATGAAAAGTTTTATTTTTTATTTATTTATTTTTGAGACGGAGTTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTAGAGGCATGTGCCAACATGCCCGGCTAAAAAAGTTTTATTTTTTATGAGGTAAGGCTATCATTCTTAAAATGCCTTTTGTGTTACCTTTCTTACTTAAAAATTACTCTCCCTCTCCACCTCAAACCTTGCTAGGCTTTAAATGTGTCCCCGAAATTTTCATTTGCTGGAAAGATAATTATCAAATTCATATGTTGGTCAGAAGTGGGACCTTTGGGTGGTAATTAGGGTAAGATAAGGATGTCAGCGTAGAGTCCCTGTGAAGAGACTGGTGGCTTTATAAGAAGAGAGAGAAGTCTGAGTTGATATGCATGCTTTTGCCCTCTTGCCACTTGATACCTTCTGATATGTTCTGAAGCAGCAGGAAGGCCCTCACTGAAAGCTGAGCAGATGTCAGCACATTGCTCTTGGGCTTCGCAGTCTCAAGAACCATAAGCAAAATAAACTGATTTTCTTTATAAACTAACCAGTCTCTGCTATTCTGGTATAGCAAAAGAAAATGAACTAATACAACCCCCAAGGTTATATTAATAAAAAAAAAAGTATATGGTATTTTAGTTTCATTTTGAACAATCATATCTTTAAATCAATTTTTTAATAAGATGTAGAATAGATGTCATTTTGAAATTTTCCAGTGAAGAGACAATTGTGCCCAGAAAATCTATTGAATAGTCTATTCCTAAACTTTAACTGTGTCTTAATCCCATTCCTTCTTGCCTACTCAAGGAATTTTTTCTTGTAATTTTTTGTTTTGTCATTGGTCATTTTTTCTTCCCTAATGGATTATTTCCACTAGCTGATGAATATGCTATAATATCTCCCATATTAAAACAAAACGATCCACTTGGACTGCAAATCTTCCTCTATCATTTTGTTAGAGCAAAACTCCTAGAAATAATTGTCTGTTTTCATAGCCAACACTTCTTTACCCCATTCTCTCTAGAATCCACTCCAATTGGTTTCCTGCCCACCACTCCACTGAAACTCCTCTCATCAATGTCATTTACTTTACATTGCTGAGAGCCAACCTAGCCTCAACATGTATCTTGAACACTGAAAACCAAAACCATCCATCCCCCACAGCTTACTGTCTATGTTAACATGACTTTACTGTGCTATTGTCTTAATTAACATAGTTTTATCAGGTGACAGTTGCCCAGCAAATAACTTCATTAATTACAAGAATTTCCCCCAAAGACCCATCAACTCTTCAACAGTAAACATTAACCTGACTCTTCACACTTCTTACCTCAAAATCCTCATCTTGCTATTTCCACAAATCCTAAACTGTTATCTCATGATCCTTACTCACACCTAATCTGGCAGTTCCTGCATTGAAAGAACTGCCCTAAATCAAACTTCAAACTCTTAATAAAATTTGATACTGCTTTCCCTATTTTACCAGTCCCCCTCGTCCAATGCCTAAGATGTGGTGGTGGAAGACAGGAATATCGATCATCCTTGTCCCATGTAGTCCTAGGCTAATATGTATGTTTATGTCTTAGTTTTTAAACAAAAAAGTATAAAAAGTAAATAATTTTTTTAAAAAAGATAAAGGCTTATAGAGTAAGAATATAAAAACATTTTCAAATTCTTAATAAAATTTGATCCTGCTTTCCCTGTTTTACCAGTCCCCCTCTTCGAATGCATAAGATGTTGAGGTGGAAGACAGCAATATTGATAATCCTTGTCCCATGTAGTCCTAGGCTAACATGTATGGTTATGTCTTAGTTTTAAACAAAAGAGTAAAAAAATTTTTTTAAAAAGATAAAGGCTTATAGAATAAGAATATAAAAACATTTTTGTATAGTTGTACAATGTGTTTTAAGCTAAGTGTTATTACAAGAGCCAAAAAGTCAAAAACATTAAAAAGTAGAAAGTAGAAAATTACAGTAAGCTAATTATTGAAGAATTTCCAAAAATAAATTTAGTGTAGCTGAAACATTCAATGTTTATAAAGCTTATAGTAGTGTAATGTTCCAGGCCTTCACATTTACTCACCATTCTCACTGACTTACCCAGAGCAACTTCTAGGACTACAAACTTTATTCACATTAAGTGCTGCCCTATACAGATACAACATTTTTTTTCAATCTTTCATAGCATGTTTTTACTGTGTTTTTTCTACGTTTAGATATGTTTAGATATACAAATACTTATCATTGTGTTATAATCGCCTACAGTATTGAGTAGTCACAAACCATACAGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGTCTAGGTGTGCAGTAGGCTATACCATTTAGGTTTGTGTAAGTACACTATGATGTTCACACAATAAAATCACCTAATGACACATTTCTCAGAACATATCCCCACAGATAAGCAACTTGTGACTGTCTTCGTATATTGTCTTTCTCATCTACTAAAATGAGCATTCCCTGAGGAAAGACTTAGCTTGTCTTGTTCTCTATTGTATTCTAGTACCTGGCACTTAGTGTGCACTCTACAAATATTTTTTGAATTGACTCATTAATTAGTCAATTTTTGGATTGACTAATTAGCTATTTAACTGAAATTTCATCTTTTTCATCCAATAAGTTACTTAGATCTGTTTTTAGACATTCTGATCTGTTCTACTGATCTATTTTTATCTATTTCTGGGTCATTTTTTTCATTACTGGAAGTTACAGGTTTTAATATTTTCAAAACTGTCAATTCTTCCATATGGCTTATCAACTCTAATCTTTATTATCATTTTGTATAGTTATATAAGATACACTTTTGAAATTAAATTTATATGTTAATTGGAGAGGCTTAATCATTTTTTTACTAAATCTTACTCAGGAACATGCCATGATACCTCATTCAGGTCTTTCCAGTTTTAGAGGTTTCATAATTTTTATTGGATATTTTGTAGTTCTTATCACTATTATGTATTCTTTTGATTTTTATTTTATTGCTAATATTAATAAAAACTCTAGGTTTTTATATGTTCTACTTACCTGTGTATCCAGCAGCCTTAGCAGAGTTTTTAAAAAACATTTCAAATAGCTTTGCTAAAAATAAAGTTCATTTTGGAATAATTTTAGATTTATAGAAAATATACCCCACACCCAGTTTCTCCTTTTGTGAATCGCACATATTTGTTGTAACTCAGAAACTAACACTGGTACATTACTATTAACCAAAGTACAGACTTTTTGTAGCATTCACTAGTTTTTCCACTTATGTCTTTTTCTGTTCCAGAACAGAATCCAAGAAAATACATTTAGTGTCCATGTTTTCTTAATCTTCTCTGGTCTATGACAGTTTCTCAATCTTTCATTGTTTTGAGGAGTCTATGATTAGATATTTTATAGAATATTCTTCAGTTTCTATTTGTCCAGTGTTTTCCCCATAAGGTTGTGGTTAGTGTTCTTTTTAGTGCCTTATATCAGGAAGTGCATGCCATTAACATGATTTATTACTGATGTTAACCTCAATCATCTGGCCAAGGTAGTGTTTGCGGGGCTTCTCCATTGTACAGTGACTTTTTTCTTTCTTTCTATACTCTATTACTCAGAAGGGGGTCACTAAGTTCAGCCCCCACTCAAAGTGGGGGAAGAGAATAAGCTCCAACTCTTAACAGAGAGAATATCTACGAGTCACTTTTGGAATTGTTCTATAAGGAATACTGCCCTCTTCTATTTGATTGTAGTTATTCAATTAATCATTTCCTTATATAAGTACTCATGGATATTTAAGACTTGGTTGTAATACAATGCTATGCTACTTATTTTGTTGCTTGAATTGTTCTGTTTTAGCCATTGGGAGCTCTTTCAAGTTGGCTCCTGTCTCCCTTTGATATATCGTCTCTAAGAGGTTTTTAGATGAACTGCTTGAATTTTGTTACACATACAGTCACATAAACAAGTAAAACTTGCCTTTTCTGGTTCTGATTTTAATGACTACTTCTGTCCTCGGCTGTCTAAAGTCTACATGTTCAATGCACTGTAGTTTCCTGTGTTGTAGAAGAGAATTTTGATGCTACTTGAATCCTCTTACCTTTGTAAGTAGTCAGTTCTCTTTGATTGGAAATTGTAAAATATGCCTTTTATCTTTGGAGTTCGGGAATTTCACTAGCATATCTAGGTATGTGTCTTCTTTCATTAATTTTGCCTACGATTTAGGAGTCTGAAATCTCACATTTTTTCAGGTCCAGAAGTTTCCCTTGAAACAGGGTCTCGCTCTGTTGCCCAGTCTGGAATACAGTGGTGTGTGATCATAGTTCCCTGCAGCCGCAAACTCCTGAGCTCAGGTGATCTCCTTGCCTTAGCCTTCTGAGTAGCTGGGACAACAGGCACACACCACCACATTTGGCTTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAACAGTCCCATTAGGTTGCCCAGGCTGGTCTCAAACTCCAGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCGGGGACTGTAGGTGTGAGCCACTGTGCCTGAAGTTTTCTTGTATTTATTCTTCAAATATAACTTACATATGGTGTGTTTTTGTACCTTAAAACTTAGTTTTTCATATTGACTTTCTGAATCTATCTTTTACAGCCCTTATCTTTTTACTCATGCTTTCTATGATTTTATATTTATGCTCTCTTATGGTATATTTCTTCTGTTTTCCAGAACAATAAGGCAGTTTTCAGTTGTGACCGTTCCCCTATCTCTTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTGGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTCATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTCTTGATTTTTTATATCCAAAAATATGTTGAAACTTCAGAGAAACGATTTTATGTACTCTATTTGTATCACATTAAAGGTTTTTTTTTTTTTTAACATTTTTGTTATATTTATTCTTTTAATTCTGATATCACAGGAACCACTTACCCTCACTGGCTTAGTGTCCCTTGTGTTCATATTTAAGCTATTGTCTCCAGACTGTCTTAGTTCATTTGTACTGCTATAAGAGAAATACCATAGGCTGGATGGCTTATAAATAATGAGTTTCTTACTGTTCTGGAGGCTGAAAAGTAAAAGACGAAGATGCCTACAGAATTGGTGTATAACAAGCACCCATCTCCTGATTCGTAGAGCACCATCTTCTTGCTGTGTCCTCAACATGGCGGAAAGGGTAAGGAAGCTCTCTAGGGTCTCTTTTATAAGAGAGTTGAAGTAAAAAAAAAAATCCACTAGATCCATTTATGAGGGCTCCACCCCAATAACCTACTCACCTGCCAAAGGCCCCACCTCTTAATACCATCATCTTGGGTGGTAGGATTTTAAAAACAAATTTTGTGAGTGGAGGGACATGAACATTCAGTCTATAGCAGGCTTCAGGCCCACCCTTCTATTTTCTGCTTATTGAAGCTGGACCTGAGCTTCTGCAAAGCTTTTTCTGCTTTTCCAGGAGGGTCTCTACTCAGTTTTACAAATGAAAGGACACAGAGGGAGACATAAGAGACACACATGTTCCTGTTTGCTTCCTGTTGTGTCAACTCGTCAGTGCTTCTGTTTTCTGGCAGCGACAGTTGACTTCGGATCTCCCTTTTATATTCATACTCCTGGAATCATTCTCAGGGACCCCACGGCACTAGCTAGCCAGCACCCTTCTCCTAGCATTTTGAGCTTCAGTTCCACACAACCCCTCTATAAGCTTTTATTATTTACCATATAACATTGCTGGTAGTTGAACATCTTGATCTAAAAACAGAGACATTTCATATGATTCAAACCAGGACCAGTTCCATAACGGTGTGAAATGAAAAATGAGGGTCCCTTGTTCAAAAATTGTTCATCAGACAGTGAAAGCAGAACATAAGCCAGACCCTTCTGTGCACAGGGTGCCATGTGACTGCATAGGTTGCGCAGCCGTGAAGCTGGCCCTGGCTCAAACTAATAGGTGTAGGTTCAAATAAGGCCAACCTCTTCCCTTAGTTCCCCTGGCTCTATGGAATGGTAGCTGCCTTTGGTAGTCACTGTTTCTGTTCTGTCTTTTTTTTTCTTTTTTTAACTGTTTCAGTTCTCCAATACCTGTTTAATCCATTTTTTATTGTTATTTTTATTACAATAACTAATGTGACTTCTTTTTTTCCTGAGTGATCCCTCCTAGATGCTTATGATATTTATTTGACTTCTCACGTCAGCCATTGTGCAACAGGGACCCTTTATGTTGAAATGGGGTGGTGTCGGTTTTCAGGAGTATCAGGAAAGTCCAGTTTTTCAGTAAGAGGGTGTCAAAACATTTAAGCCAGACACTTAAATATGGAGACATGTTCAAAACAGAACAAAACAAAACACAAAACAGGTTAAACGTATTTCTTTGCTCTTAACCTAAGTTCAGATTTTGGTATTCTGTTACCATGTCTTTCCTACAGAAATTGTTCTACCCAGATGAAGATCTGATGTTAAGTGGTACCGACATTAAATTCCAGCGTATGTAAAGGACTAGCAACACTGCACACTTTTTAAAGACCTTGCTGAAAATCCAGACTCCCCTAACCAAAAGTCTTTGTATACTAAACCAGCACAGTTATTCTAGAGGACAACAGTAGTACCTGCGGACTGTTAGATGCCTGTGGTCTGCAGAGCCAGAATACAATATTTGATTTGGCTCTTAAAGAGAGTGCTAATTTCCAGAGCATTAAATGGGGGCCTATGTTTGTTGCTAAACAATTAGACACACGTTGGCTTGCATTCTCATGCAAGCCCTGCATTAATCAAAGCCTGTTGTAATCTAACTGCTGATTGTTTTGAAAGATGAGGAGAGTGCATCTGTGTTCCAGTGAATCCCATGCATTCAAATTGCCCTTAAAACAATGAAAGTCAAGTCATGGCAGCTGAAATGAAGCAGCTTTGTACCTGGGAACACTAATATGCATAAGCATACCCCTCATATGGATGTGCTTGGTGGGGAAATGTTTTTGTCTTGTTAGGGAACATGCATTAATGCAAATTTGAGAATAAGAAGTTATAATCATTAAAGGCAATTCCATTTCTGAGCTACTTACAGAGACAGAAAATATTGCATAGCTTTTATAAAACTGCAAATTACATCTGATTTGAACTTCATTTAAAACTCCAGAGTGAGAGAACTGTGAGTTTCCCGTTAAATACAAAAGCTTAAATGAGAATTCAGCACTCAGGAGACAGCTGACTGACAATAACCAATCTCACTGACGCTTGAGTGGGTACACACCAGTACAGTTAATCAAAACTCCACTCAGCTGCCAGCTCTTTTGGCATTCTTCTGAGCCCAGCAGAGAGTATCCAGGACAGGAGATTCACCCATCAAAGCTTCAGCTCTGCTTTCCTTGACATTCCAAGCAGATTAGTAAATGACAGATTTCTGCAGCCTAGTAATGGGGCTAGCATGACTCAATGGCAGAGATGACAAGCAAATCTGTAGGATCAAGTGTTCACGGCCTCTTGTTCCATCAGAACTGGCAAAGCTGCCACCAAGGTTATTGGAGTCATATGTTTGGGGGAGAAACATTTTGTTTCAAACAATGTGACAGGAAAGGAGAATGAGTCTACTCCTCACTGACACGTATAGCAGAAAATCTATCAAGCCTTCACCACCCAGCACCATCTATCCCTCCCCTGACACGTCATACAAAGATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTGGGAAAACAGCAAAAATCATGGTCTGATTAAAGTTTACCCTAGGTAAAACTTTACTTACAAAAATGGTACACATAGACATTCCTGATAATCTTGTCTAATATTTGCAAATATTTCATCTTCCTCATAAAGTAAATGCATATTACCCTGTAAACATAGTCCCCACAACGCTTTTTCAATTGCTTAAACATAATCTAACCAAAATTTAAAGTTATGATTGAATATAGAAGGACTCAGATGAGGTGTACGTGGATTCACCAGTAGAGTTTTACTCAGAAACTTTTGCTTTGCTTTGTAACCCACTTATGAACAAGTCCTGAGTGTCTTGACTGATGATAAACTTACCAAGGCTTTGTTTGTTTCAGATTCTCTGTCCTGCCAATGCCTTCCTGGGCTTTAAAGAATTGCCTTCTTAGCCTCATTCCAAATTGATTTTCTGAGCACCTATTGTAGAAAAGGAGCCTGAAAACTACTGAAGAACACATCAGTGAAAGTGCTCATGCTCTTTCTACTTGGATAGCAGATATTAAATAGCAGCTTTAAAGTACTATTTCCACAGCAGGAAAACTATTTGAGAAAAGAGCCTAGGAGGCAAATACTAAGGTACCTGAGATTGCTTTTGCCAAAGATGGCTTTATACAAGGAAAGTCCTCTCGAAATGTCTCCACTTCTCTTATCTACTAGGAAATGTGAAAATGTGTGTAGCGTCTCCTCAGGATGTGAGCGTGTCATCATATGCCAATGTGAGCTTGTGCTAGTTAGTTCTTACTCAGTCCTTTAACATCCATCCACTCTTCTGCATCCCAGTTTGTGGAAACAATGATGCCTGATTTGAATAGCATTTTACAGGTTTCAGTGGTAGACCCACTCTCCAGGTAAGCAATCTGGATTCAAGTCCCGGCTCTGTCCCTTATCAGCTTGTCACTTTGTACAAGTTACCGATCCTCTATGTACCTCAGTTTTCTTATCTACAAAATGGGGATAATAATAGTACCTATATGATAGGATTGTTTAAGGATCCAATTATTTGTATATAAAGCACTTAGAACAGAGCCTGGCACAGAATAAGTTTTATATACATGTTCTATTGGTATTATTTTCTTAATAAACCTATGATGCGTGATCAATTACCCCCTTTAAAACCAGGAGACTGAGGTTTGAAGATGTTAAATAAATGATTCCAAGCCAATTTCTAGAAAGCATCAGGATGAGGACCAGAATCTAGGCCCTCTCCCAGTCAAATGCTCATTTTACTTTTCCACTAGCATAGGACTTTTATAAGCTTTTCAAAGGCAGAGCCTGTGTGGTCCCTGTCAATGCTTTCCTCCAAAAGCATTGAGGTGGAGCCTCAATGCTAAGAATCCAGTCCCTGTGGTTGGGAGCTTGCCTCAGGTATGGGGGAGGCATAATCTCTGAGGTAGGGGATCTGGTCATCAGAACCAGAAGAAAACAGGAGAGGATGTGGGGTGAGAAGCTAAATGCAGCAAGGGCCATGTTTTCAGCACATCATTCCATATCTCCTTCTCTCCTTCTCTGTCTATAACCAAGTCATTTTTGGTGCAAAAAACTGAGGTCCCTTTTATGGAAAAGTGTAGGTACTGCACTGGATACCTGAGCTACAAGGCACAAGCCCAAAATTTTAGAAAGAGGTTTAAGTGTCAAATCCGTGGGACTTCAGTTTCACATCAGCATCATCCTCAGATCACTCACAGTCACCCAAGAGTGGGTAAGAATCTTTCCTGTCCTAGGGCTCAGGAACCTTCTGGTGTCTCCCTCCTGCTCTAAGCCAGCTCTCCATCCCTCCACACTTCGTACTTTCATCTCCTATCATGGCTGTAGCAGTCTTGGATCATCACTTTTGTCTTCCCAGGAAATCGTGTCTGCAGGTTTGTGAGAACATAGCTATTCATTCTGGTTGCCAGCCCCCTTCTTCTCTGCTGAGCCCTCCTGGGCTCACCCAGGGCATCAGGATCAGGACCAGAAAGAGGTCCTGGATTATTATCAGGACCAGAAAGAGGTCCTAGATTATTCTTGGGAAGAATAATCTAGTTGTCTCTCTGCTCCTGGTGATTTTCTTTTGAGGGGAAGTTATTCTCAGCAAATCTGTCCTCTTTGACCCTGCAATTCTAGGAATAAAATATTCTTAATATTACATCAAAACTACAATACCCCTATAAATCTCTTTGAGCCTCACATCCTCTTTCTATTTAAAAGAGATTAGACTCAGGAAAATGGACTCTACGGTAACCACAGGAGGGATAACTGTAGGGTGCTTTTAGGATTTTTAAATTTTTATATTTTGTTTTGTTTTAGTTATTAAAGTCTTGTACTAAAGCAATTGTAAGACATTCTCTTGCCCCATGTTACACTATATTCAGAGGGGTGGGAGAGTGTGGTGATACAATAGAATGGCAGCAAAACTAAAGGTCTACCTATCTTAGGGGATAAAGTTTATAAGAAAAATAATCATCAGAGCCATTAAGCATTTTTACTTACTATAAAGCTTTTTAAAATGTAGAATGGGAAGATAACAGCACCTAACCTAGGATCATGAGTCAGCATATGGACAACACAGAACAAGGCCTGGTGTGGGGAACGATATTGTAAGTCTTGGTCATCTCACTTGTTTCCCTTACAGCATCATTCTATTCTGTTCTCACAACAACTCTGCAAGGCAGGGGTTATTTCCATTTTATAGAGGAGGAAAATAAGTGATTTATTCATGCTTGCAAAACTACAAAAGTATAGAATTGAAGTTCTAGGTCTTCCTTTTTTATAATTCTGCAATCTGAGTGGCACTGGCTGGTAAATTCCATAGGAAAAATAATTCCTTTTTCTCTGAAGGTTTGGTCTTGGAATTGGGACAGGAAATAAAATTGGTGAATGTTGCATTCCAAGATTAGGAGTAAGTGGCTCTGACATCATCTTTGAAAAATGCAGTAGATGTCAATGCAGAGTTTATAGGGATGATTTCGGAGTCACCATTTACAAGATTTCATTCGCTAGTTATTACAAACCAATTTCTGCATTCAGTGCACTTGTGTGCACACACAGAAACACACACATTTTAAACATGGATCGATGCAAGAAATTGCATGAACATTTTCTTCCCTAGCATGTAGGAAAACTTCCACCCTAATTTTGAATTGTCCCATGTAACAGTTCACCACACATCTTACTACTTCTAGATATTATTTTTTCATTTTTTTCCCCTCTTTTCCTCTTTTCTTCATTCAACAAACATTTGTTAAATACCTACTATTTCCCCAGCCATCGACACATTCAGACAAATTGGCAGGATCCTTGCCCTCAGGCAGCCCTGGTTCCACTCATTCCTCCAGAGCTTTATTCCCCTTCTCTATCCCCACATTTCTCACTTTGGTTCAGACCTCTTTTCTATTTTTCTAGATTCTTGCAATAACCTCCTAAATGGTCACTGGACTCAACTTTCCGATCATGGCTTTTATCATGTTCTTTTCCCACTTAGAAACTATTCATGACTTCCTACTGTCTAATGAGTTAAGTACAGACCTCTTTTTGTGGCATTCAAAGCCCTCCTCATTCTGGCTTCTGACTTTTCTTATGTATCAACTTCTATAACTGCCCTCTTTCATCCCTTTGCTGATTTCCAATAGAAATACTATCCCACCAAGCACATTTCCTTCCTCCCCTCTATGTGTGGTTGCATCTCAAGTATTACTTTTTTGTTTTTTTGTGGTTTTTTTGAGATAGAGTGAGACTCTGTCACCCAAGCTGGAGAGCAGTGGTGTGATCTTGGCTGACTGCAACCTCTGCATCCCGGGTTCAAGCCTTTCTCATGCCTCAGCCTTCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCTGGCTAGTTTTTGTATTTTACATAGAGACAGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCTTAGCCTCAAGTGATCCACCTGCCTCAGCCTCCCACAGTGCACAAGCATGAGCCACTGTACCTGGCCAAATGTTACATTTTATCTCAGTCACATATCCATACCCACCTTTCTAGCCTTATTATATATGTATCAACCAACAGAACAAAAAGAGAGAGCCCAGAAATGAACCTACATATGTATGCATGGTCCACAGATTTTCAACAAGGGTGCCAAGAATACACACTGAGAAACTAATAGTCTCTCCAGTAAATAGTGCTTGGAAAACTGGATATTCATGTGCAGAATCAAACTGGATCCTTATCTCACTCCCTATACAAAAAATCAACTCAAAATTTATTAAAGAGTTAAACATATGACCTGAAACTGTCAAACTATATGAAAAAAAAATCAGAGGGAAAAATGCATACATTAGTTAACGAATTTTTAGATTTGACACCAAAAGCACAGGCAATAAAAGCAAAAATAGGCAAATGAGATTACATCAAAATAAAAAGCTTCTGCACAAAGGAAACAACCTAACAGATTGGGGGGAAATATTTTTAAGCCATAGCTCTGATAAGGAATTATTATCCAAAACATATAAGGAACTCAAGTTTTTTCTATAGAAAAATAATTTGATTAAAACATTGGCAAAGGACTGAATACACATTTCTCAAAAGAAGACATCTAAATGACCAAAAGATATATTTTAAAAATGCTCAACATCACTAGTCATTAGGGAAATGTGAATTAAAGCCATAAGATATCATCTCACACCTGTCAGATGGTTATTATCAAAAAGAGGAAGATAACAAGTGTTAGTGAGGATGTGAATAAAAGGGAGCCCTTGTACACTGCTGCTGGAAATGTCAATTAGTACAGCTATAATGGAAAACTGTATAGAGGTTCCTCAAAAAAAAAAAAAACCTAAAAAACAAAAGTGCCTTAGGATCCAGCAATCCCACCAAATTCTACTCAACAACTAAAAAGAAATTGTCATTTGTGAAAACATGGATGAAATTGGAGAACATGATGCTAAGTGAAATAAGCCACATGTAGAAAGATAAATGCATGTTCCCACTCATATGTGGAATCTAAATCAAACTCAAAGCAGCACAGAGTAGAATGGTGGTTACAGAGGCTGAGGGGTGGAGGTAATGGGGAAATGATGGTCAAAGGGTACAAAGCCTCAGACTGGAGGAGTAGGTTTTTCTTTGAGCTATATTTTACAGCATGGTAAAGATAGTAAATAATAATGTCCTGAACATTTCAAAATCACTAAAATTGTAAATTTCCAACGTTCTCATCACAAAAAAATGGTAAGTATTTGAGGTGATGGATATGTTCATTAGCTTGATTTAATTATGCTACGTTGTACTTATAAATCATAACACCATACATATATGCAACTATAATACATATATACAATTATCCTTTGTCAACTTACAATTAGAAAATAAAAATTTAAAAATAACGAATGGATAAACAAATTGTGGTATACCTACACAATGGAATTATACTCAGCAGTAAACAGGAATGAACTACTGATACATGCAGCAACCTGGATGATTCTTAAAATAATTATACTGATTGAAAAAAGCTGGACTAAAGAAGGATACATATTTAGCTAGTATGATTCTATTTATGTAACATTCTAGAAAATGCAAAGGAATCTACAGTTACATAAAGCAGACACACTGGTTGCCCTTCAGTGGAGGTGGATGTACCACATCTGTTCTTTACTTTGATTGTTGATGGTTCCATCAAGTATACCTACGTCAAAACTTATCAGGTTATAAACTTTAAACATGTGAAATTTATTGAAGCTCAATTGTTCCTAAATACAGCTTTAAATTTTTTTAAAAAAATCAGGAAAATTTATTATAATCATATATCTTAGATGTAACCATGATGCTTGGGTGAACATTTGGCTTATACATATTTTCTGAGCCTTTTAAAAACCAAATTTGCATTTACATAATATATTAGCATATTTTTCATTTGTCTCTAACACTATAAGACACTCCTAGTATTATTAGAAGTTCTTTATAAACATTTACATTGAAAGATTCATACTGTGATAAACTGTATCAGTCATGTGCCATCACTGATACCAGTCTTGACAATGTAGCTTGGTCTGGCTAATGAAATATGACTTCGCATATTTCAAAATTGCTAGAAGAGTAGCTTTTAAATGTTTTTACCACAAAAAGAAATAAGTATGTGAGGTGATAAACTTTTAATTAGCCTGAATTATTCCATATTGTGAACATATATCATATTATACCCCTCTAAGTATGTTATTTGTCAATTAAGAATAGAAAAGAAATATGACTGGAAGGGATATGTTATTTCCAACAGGATTTAAAAGCATGGTGTATACTTTGTCATCCTGATGTCTGTCTATAACATTCTTTAAATTATGGTTACTTAATAATATGTTTAATATCTGGTAGTGTTTGTCCCAATCAAGCACTTTATGCTACTGTCATGAAATAAAGATGGGAACTGGGGTGAGGTTCAACATAGAGCATGCTTCTCACAATAATCTCTGTAGCTGTCTGTTGTAATTTTATTGTTAAGCTCTCTTTCTAATTTAGTCTTGAGGCCTCTCTGTTGGGAGTTGCCATAAGACAAGGTAACCACTCTCTAGCAGAGTCCTGGCCAGGAAAAAAATTAGCTTTGGGTATGACGGTCAAGTGAGGTGCACCGAGGAGGTGAAGCCAAGATGCACGAAACAAAAAAAGAAGTTTGGATCACTTACAGATCCCAGAGAGGCTAGGGGTGCTGACGGGAAGCTGGGAAGTCCGGAATCAGCAGGCGTCTCAGCCAGCAGGGTGGGAGCCAGAGAGAGCCAGAGGACCTGTGGGACTATGCTTTATTAAGACCCAAGGGCATTATCCCTTAGGCTTTGCTGGGGAAGGACGAGGCGGGGTAGTTGTGGATTGGCTAGTTTAACAAAAACACAAAAATCTGTGTTGTGGCTCTGGTGTTAACCATCAGATTTGATCCTGGCCAGCAGCTATTGGGCGTGCTGGGTTTGGGTCGGTGGGATAAGAAACAAATGAGCTTATATTGAAAATAGCTGGCTAGGTGGGGTGGCTCAAGCCTGTAATCTCAGCTACTCCGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCAGGGCGACAGAGTGACTCCGTATCAAAACAAAAACAAAAAAACAACTTCTTAGGGAGAGGAAGTTTTAACTAGGCCAAAGGTGACGAGGTACTACTCGGTTTCAAATAACTTATGTCAAGCCTAAAAATGGATGCCGAGACAGCAACTATATTACGTAAATTATTGACACTGCCCATTTTTGTTTCACTCTATCTCCTCTCAGACTCCAGCTCCTTCCACACAGGAAGAGGCCAAATATTCCTGCGCCCCTCACAAGACTCTGGGCTGAAGCCCTGCTGTTTGCCTCTCTGTCTCAGCCCGGGTGAGCTGGCCCATCTTAGACTGGCAACTCTGTTCTGTGAACAGGTTGTTAGAGCCCAAGTGCAACAGGAAATGTACAGAAGGTTTCAAATCATTATGTATACCTACAGGGAGGGAGAAGCAGATGCCATTTGAAAGGGGCCTGATTAGAGAACGTGCTTGCCGACAGTGTATCTGATTGGCATCTGTGGCTTTGCAGCCAGACCATCTGTTTTTGCTAATGCAGCTTCAAGTGCGGTGCATAATGAGGTTAGGGTCAGGACTGTATTGTTCGTCTATGGCTTATGTGTGCCTCCTCCAGCTATGTGAAAATTAAAGGGGCACTGCCAGGACCATGCAAGTGGAGAACACTTCTCTGCCAAAATGTGACCAGAAAAAAAAAAGGGATAATGGACTCCCTTTGTGTCTCTCCAGGGAGATCTTAAGTATGGAGGAACACAGAGCTAGAGTGCTATGTTAATAGAGAGAAAGGACAATGGGTGTAAGATGTAGTGGTTAAAAATGGATGGTATCACAAGTAGGAAAAGAACTTTAAAAATAAGACAAAAATCAAGAGGGACTGGCAGGTAAAGAGAAAGAGACATAAACATTTATGTCCCTGGGTTAATGTTTCAGCATTTACAAAATAGAGTCTCCCCAACTCTCAACCCACTCCCAGCTCATGCGCACTTTGTTGAGAGTGCACCACAACTGTACACCATTAGTCTAAAAATAATCAAAGCACCTATCAATTTGATAATGATTTCTTCTCATCTTTGTGCCTTCTGAAATTCTGTCCTCATTCCAAAGCCCAGGGAGGATTCCTGGTACATTTAAAAATCTCTCTACTTAAGCTTGGGGACAGACAGCTTTAAAGTAGATTATTTGACAAATTACATGTTATACTTGCTTTTATGCAGTGTATTGTATAAAATTTGCCTACACCATTTTTAGGGAACTCAGTAGCACCCCCTAGGGATCACTGTTTGACAACAGAGATTTACATGGGAGTAGTGCAGTGTCTCTCTCAACAGTTCTTAATTTATGATTTCTTTTGACAAACATAAATAAAATAGACTATGGTGTTACTTGAAGTTCATAAATCAATCTAAATCAATTAGATATTGTGACTAAAAACAGCAAAGTAAAGCAAACTTTAGAATTTACATTCTCAAATCACATCCTTGTGTTTTTGGAATGTTTCACTGAGTGGGTACCCTTGATACCCACTTAGTGGGCCCAAAGCTCCTGACCTGAGAATCTATAGATTAACAAGTAAGTCATCAAATAACAGGTGCTTTAAAAAAATTATTTGTTAGGATTCCATACTATGTCAAGCCTTTCTATTCTCTGTTTTAATAAATACAGTTTTGATAACTATATTATATGTACAGCTTTGAGCTTATGCTTAAAGTCTGTGCTTGTCATTCAGAATAATGACTGGGGGAGGTTTTCACTATTGAAATGAAAATACCCAAAGTCCTCTGAATACTCCCCCAACAGCAGAGATAAATACCTTATAGACTGATCTGTTGAAGTAAGAATGTGATGGTGGAGTGGTTCTCTCGTTCCTCCCTGTATTAGGCTATTCCTGCACTGCTATAAAGAAATACCTGAGACTGGGAAGCTTATAAAGAAAAGAGGTTTAATTGGTTCATAGTTCTGCAGGCTGTACAGGAATCATGGCAGCATCTGCTTCTGGAGAAGTCTCTGGAAGCTTACAATCCTGGCAGAAGGCGAAGCGGGAGCTTTCATGTCACATGGCAAGAGAAAGACCAAGACAGAGAAGGTGCCACAAGCTTTTAAACAGCTAGGTCTCCTGAGAACTCACTCACTATGATGAGAACAGTACCAAGGGGATGATGATAAACCATTCATGAGAAATGTGTCTTTACCCATGATCCAGTCACCTTCCACCAGGCTGTACCTCCAACATCGGGGATTACATTTCAACATGAGATTTGGGCAGGGTACAAATCCAAACTGTATCACTCCCTAATATAGACTTTTGAACACCTGCCCTTTCACACACTGTATATTGATACTCTACTGCCTTTTGTCAAAATTCAAACTTTGGTCCTCAGCTGATAAGCATTTTGAGCTATCACATGGCTGGGTATATTTATTTAGCAGTGTTTGTATAATTATCTGGATATTTCAATGACTTTTGCTCTTAAAATTTTAGAAAAATAAGTAGATTGTATAATAGGAGCTATAAAAGTGCTAGCCTCAGCACTTAACAGCACATTTGTTATAAACTCAACTTAATTGAGATCATCATTAGATGAGCTGAAGCAGTGACTTTTTAGCCTCAATTAGATGCTTAATGAATTAAACTGGCTGACTATATTAATTATGAAGAAAAGGAACAAAATTAAAATTTAGGAAGAAGTCAAATTCTGGAAATATGCATTGAAGATTATTTTCAAAAGGCAAACTTTTATTAAGACTTTATAATGTTTTTGTTTCATGGGAATACCTCCCCATACACACGTGTCTGCACACAGTGACACATAAAGTTAGTTCTTTGACTTTCAAAAAGTCACTTCTTATATACATTTTAAAGACACATAATATAACAAAAATGAGAATCATTGCATACCTTCCTCTTTAAAAGGGAGTATAAAAGTCACAACCTCTCGGTGTGGTTGGTATGGGGCATTATTTGCATGACACATTATAAATGAATAGATAATGTCCCCACTAGTGTTTTTCCACATGCCAAACATGATATTCAGATCATTTAACAACTGATATAGGCATACCAGTGCTATTGGTCCTGTTGAATTGGAGAAAAGAAATTCCTTGAGAAATAAAATGATGGTGTGTGAGTAACTTACAAATCTCCTTAAAGCAACAATATAATTTTTACATTAAGCAAATGCTCAATGAAGGCTGTAAGAGGATGCCAAGTTTCTTGTGTTTGGATCTTCACCAGTATATTTCTATACTACAGCAATTTGTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGTAATTCTTAATCTTGTCTCTGTCAATGTAATTGTGGCTATAGAACTTGAAAAGATTATCTTCCCTTTGTGTAATTTGGCTTGTTTGAGGGGTTGATGATACTGCAATAATTTCCTCTTTTTCTGGGGTCCTGGACTCCCTCTTCTGCTTGTCTCTCCATTGCCATAGACTTTTGCATGTCTCTAAGTCCTGGGCTCTTAGCTCTTCCTAATTACAATATTGATGCTGACAGTTTGCTACACCAATTCTAATCACAAATCAGATTTACAGAGGGCTTGCAATGGAAGAATTGCAGCCATGGCATTGACTAGACTGAAGAGCTTAGTTACCAGAAGTCACTTATCAAATGGGAAGGCTAGCTGGGATGGTTAATTTTATGTGTCAATTTGACAGAGCTGTGGGGTGTCTAGATAGCTGGTCAAACATTATTCTAGGTATGTCTGTGAGGGTGTTTGTGGATGAGTTTAACATTGAATAGACTGAGTAAGGCAGATTGTCATCTCTAATGTGAATGGGCTTCATCCAATCAGTTGAAGGCCTGCATAGAACAAAAAGGCAGATCCTCCCCTGAATAAGAGGGAATTTCCTCCTGAGTGACTTTCATTAGCTGGAAGTTATTGGTTTTTTTCCTTCCTTCAGACTGCAACTGAAATACCAGCTCTCTTGGGATTCCAGCTTACCCACTGCAGATCTTTGGACTTGGCAACATTCATAATCATGTGAGCCAATTCCTTATAATGCATCTTTCACATCAAGTGTCAGGTTCTAGCCCAAGCTGAGGTCCACGGGGAGTGGGTGGCAGATAGCTGGAAAAACACTAGAGGAATCATAGGCAGTTTTGACATGGCTTTATTCTCTCTCTGGTAGCAAGCCTGGGCATGAGCTGTATGTACAGTGTTAGCAGTGTAATTATACCTTTCACAGACAATAGTGGTTCCGAGCCAAGCACGAGCTCACATGAGTAGTTACCTAATGTGCCTCATATAATGTGTGGGGTTGTGCACCTGAGCTCCAAACCTGCTGAGTCATGCTGTGCTGGAAGGCCACCTCTGCCTACTCCTGACTGAAGTGCAGCTATTTCCCTTACACTCCAACCCCTAGGCTGAGGGCATCTTCTGGGTAGGGACATGTGCCCATAGGGCAGAGCCCTGAATCCATAACCCACAACAACAATACAGAGAGCAATACCTCACTACTAGGATCTCAGCTATGCTACTTATGACTATTAGGGCCCAGCATAGACCAGGGCCCAGGGATGCCCACTATCTCTGCAGGGGGTTGTCAGTAATGCTCTCGACTACCTTAATCTCCCATGAGACCCCTTGCAGGGCTGCTGTTGTGTTCTGCTGATTGTCAGGGATAAAGGTACAACATTGTGTTCCTTAAAGGGCATAGATGCCTCCTTGGGCAGCAGTTACTATGTCTATGGCCATCCAGTTTTGCAACACCACCTTTCTGATCTGATCAGCCTCATCTGTTAACAAGAGAAGGGCCACTTGGGTGTAATTCAGAGCCCGAGTGGTGTGCTCTGCTCGAGCAGTAACCTGTGCTTCTACAATTATGACACCCACTCCAGGGATAGTCACTGCCAAAGGGTAGAACTGCTGGGGGCTCATTGCACTCACACAAACTAAGAGTGTAGCATCTCCCAGTTATGCGGGCATCAGGGCAACATGGGGAGAACAGTGGCAGGCACATAAGGCCACCCCCAGGTACAATGTCCAGTGCAGTTCGCGGGTAGGTAAATCTACTCTGTGTCCCCACAGACCCATAGACTCCCAGGGGGCACAAAGTCAATCAGGGCCTGACCTTGGTAGTGACATGTGTTATGTTTGCAAAGGCTGTGACAGGTACCCATCCCACAGTGGTGTTACCCCAATGTTGCTCTATGCACTGTGGCACTTGGGCTGGGAGTACTACATGTTCCCCACTAGCCAGCCCCATCATAAACGCTATGGGCCAGCCAGGGGTTGGGCACACCATGTGTCTTGCAGCATCCTTTGTCCAAAGCTGCCATGTTGCATTCCAGGCATCAGCCATGGGACCCCCAAGTCTCCAACCATGTCCAGTTCTCTGCAGACACAAGATGTATGTGCCAAGGCAAGCCATCCGCAGCCCTGCTGGAAGGGCAGTGCATATCCAATAGTTGGAAACATTGGTCACCTAGTGTAGGTGTGGGCCCAGTCCACAATGCAATTGGAGTATGTTAACCTCTGGTCAAAATGACAGAGCAGGCATAGGTACTAACAGGAGTAAATCACACCCCTCAGGCAAAATACAAGCTAACCTTTTATCCCTAGATAACAATGCAGCTGCCAAGGGCTTCTGCCCTCAGTGATGGTACCATAACTTCTCAGCTCCCCATGGTTCCTTTGGGTCCTGTATCCATGCCAAAGTCATGGGGGAGCTCATAATAGGCCACATAGACAGTACATATGTTCCCTAAAGGAGGATTCCTTCCCTGGTCATTCCCCTACAAACAGTCAACTGCAGGGGCCATGTATTGAACACCCAAGAAGTTACATGCAAGTCATACTGTAGGCCCTCCCTCCAGGGAGCTATGATGGCCAACCACCGGCAGTCAGGGGCCTGGAAGGTCCATGGCCACAGCCAGGTTTTCTGTTCCCCTGCCTTCAGGGGCACTGGGGCAGGCAACAACATGTTACCATTTGTCCTCATACCTGGTCAAAGGAGGTCATCCTTGTTGTGTATCTGCAACTGAATAGGGGTGGTGGCCCACTGTAACAAAGCCTTCACTGGGGCCAGGCTGCCTTTCCATGGCCATTCATTCAAGGTTTGGAGCACCAGGTCGAGACTTGAACTCCAGCCCCGCAAAGATGGGGGTGTGACATGCAAGTGTAACCCATTCTTCAGTAGCCTGTTATATCGCTCAATTATACCTGCAGCTTGCAGGTTGTATAGCACATGGAATCCCCACTTTATGTCCATTTGTTGTGCCCATTATTGTACCTGTTATCCAGTGAAATGTGTTTCCCTATCACTCTCAACGACCAGAGGGCAACCATCCAGGGTACATAAGTGTTGCAAGGTCCAGATGGTGTGCTATTGTTTGGCCACTCTGCAAGCGTAGGTGAACAACAGGCCTGTGGCCATGTCCACAGCTGTTAGCACACGTATATTCCCTTGCAACTTTGGCAGTGGCCTGATGTAGTCTACTTGCCACCTGGTCAAGGGGACTCGCCGTATCATCACTTGTTGTGTAACACTGGGCAGCTGCCTCCATTTGGGGTATGCCTGAGCACGTGCTGGGCATTTCTGACCAGCCTTGCAAATATCTTCTGTGGGCAGGGACAGACCCAAATGCATCTGCCTCATCATTACCAGGGGTAGCCAAAGACATATGGCCTCACACATGATAAATAGTTACATCTTTCTGATGACCCATTTCTTAGAGGTCTTGCCACATGGCTTGGCCCCAAATGGGTTGGTGGCCAACTAGCCAATTCTGTATTTTCCAAGTAGTTAACCAAGAGGTTAAGCCTTGATAGACCGTCCAGCTATCGGTACAGATTACCATAGGTGTCACTTCCTTTGTGATCGCCATCCATACTGCTTTAAGTTCAGCCCATTGGCTGCTTTGCCCACACCCAGTATCAAACCATATGGTGTCAGTACCAACCAACAACAGTCCAGGCAGCAGTAGTACCTCAGCTACAGCCATCTGTGTACCAGGCCTCTCTGGGAATGAGGGGACCCCATTCCTTAAACAGTGATGGTTTGGAGTCTAGGGGTGCATCAGACCCCGTGGCCTTCTCTTGCATTAGGACTACAGGTCCCAAAACCTCTTTCAGCTCTGCTAAGGGGCTTGTACTCAGATTACTCCACTGGTCTAAGTAGGCACCCCACTTTGCTAAAGTAGATGTCTGTGCCATCCCAGTCCAGGGGTCAATACCCATGAATACACCCATCCCGCTATTGGGTAAGTCATTTGCATGACGACTATAGCCCATCCTGTCACACTCTCACAAGGCTGAAAGGCAGCATTTACAGCTGCTAGCTGTTTTTCTGTCAAGGAATACCAAAACTCAGCTCCCTTCCATATTCAGGACCAAAAGCCTCCTGGCATTCTCAAGTGCTCTGTGCACTTCCACAGGCCCCAGCTGAAACCATCTGTGGTCAGATGCATATCCTGCTCAAACGGGCACCCCTGGTCAACTACCCATAGGGCTTGTGTCTGCTGAATAGCCCGCTTTGCTGCCTGGAAGGTGGTCTCAGCTGCATCATCCCAATCCCAGGTAGCTCCCTTCTTTGTTAACCGATATAATGGTTTTATCATTTGCGCTAAATGGGGGCACAAATGCCCACCGATATCCCAAGAGGCCCACAAAAGTTTGCAGCTCCTTCACCATGGTGGGCTGGGGATATGCCTGAATTTTGTCAATGATCTATCAAATCCATGATTGACAGTGCAGCTGCATACAAAGGGAGTGTTACTTTATTCAGTTCCTGATAGTCAACCATCAACCACCAAGTTCCATCAGGCTTTCTAACTGTCCACATTGGAGAATTGTAGGGGCTGTGGGTGCCATGCACTATCTGCACTTCATGCAGCTTTTTAATTGTCTCGGTTATCTCCACATGCCCAGCCGGCAAATGGTCAGGGTTGTGCGGGACCTGAGGCTGGTGATGCATATGTCCAAGCAGCGCCAGCTTCACCACAGGCACTCAGAGTCTGAATTCCCCAGCTGCGGTTTGTAACGGCAGGCCATGTAAAATGTCCACCCCCAGAATGTATTCCAGGATGGCAGAGACATACACAGTATATAAGCAGGGAGCCAAGCGGACCTCCTGACTGAATTGCAGTCATTTCCCTTACGACATCTTTCTTTCTCTCTCTCTCTTCTCTCCCTCTTTTCTCTCTCCTCTCCCTCTTTTCTCTCTCTCTCTTCTCTCCCTCTTTTCTCTGTCTCTCTCTCCTCCCCCTCACCTCTCTTTTTCTTATCTGTATTGGTTCTATTTCTCTAGAGAATCCTAATACTCTAACATTGACATTTTTGTGTGTGTGTCAGAAACTGTCCACAAATCCACAGGGCGGACAACTTGAAAACAATGAAAATTATTTTATTTGCATTAAAGGTTCTTTTTAAAGGGTTGATTGCACCTATTATGCCAGCTACTCAGGAGGCCAAGGAGGGGATGATCACTTGAGGCCAGGATTTCAAGACCAGTCTGGGCAACATCTCTAAAAATAAATATATATTTTTAAAAGGTGTGTTTAGTTCCCCAGCCATTGCAGCCACCACTCTGGGTATGGCTACATGCCCAATCTTTTATGCCACAAAAATAACTATGAGCCTTCTACATGTGCAGAAGTTCCATACTTGTTTTATCATGATGTCACAGAGGTCAATGCAATACAGAAGTGTAGCTAAATTTAGTTGCTCTCATCTTTAAATCAGAAAGCCACATTCCTTGTCCTGATGGTGAGTCTGCTGGGTTCCAGGCTGGAGCTATCCTGGGAGCAATGGTGAAATCCATCATGAATTTCTTTCCCTACACTTGGTAACCCTCAGCTGGTTGTCATGACATTAATGCTACCGTTTTAGTAGAAAAGGAAGTTGGAACCGTGTGAGAAAGAGACAAAGGTAGACAGCTGGAATTTTCAATGGGGAAGGATTGAATACATCAAATTTTAAGGTTCTAAGATGAAGTTCATATTCTTCAAATGTGTTGACCCTCCTATTTATATTTCCAGCTGCCCAACTTATACATTTTGTGTAACTATTGTGAGAGAATATGTTACAGATTCATAATACTCATGAACTATATTCTTCCCTAGCTTTTTAGGTCACACTTATAAATACATGTCACAGTGTTTAAGCTCAGCTTGAAAACTTCAGCTTCATCCTTCATTCATCCTTTTCTTAATCCCTCAGATTATCAGTTCAATTAATTTGTGTTTTCTTCTAAAGAACTCATGCAGGTATCCCTTGCTCTATTTGACTAATGAGTAATGATGGTGAAGTGGCTTAAAAACATATCTGGACCAGCAGATCCTGAGGTTAGAATGGCGAGGCAAAACAAAAACCACGATGTGCTGTGTGTATGTGTGCATGTGTTTCCCTGGTATCTCTCATTCCACATTGATGATTAATCATGCAATAAATACTGTTTAAATATTATTTTAGGGACTTATTGAAATAGCCAATAGACTCCCAATTATCTTAATGCTTTATGTAAGCATTAAGCTCAGACCTAATGAATCTGAAGTGAGGCCAGACTGATTCTGAAGCAGGTGGCCTAAAAACCACGTGGAGAAACACCTGGTACACCCTCTAATTTGTACAGATTAGGCTCAATCAAGCTAACTATTTTACATCTATAAGTTAATGATAATAAGTAATGGTCACTTTAAGATCACAAAGCACCTCTTAAGTAATTAAAAATGGATAAATTGTATTTAATAGAGTTTTAGATTTAATTTCATGTTTTATGAATTATAATTCTTATGAAATTAGAAACTGACAGTTAGCTTGCATGGAATCGCTCTGAAAAAGGAATATTCATGAGTACCCCATTCTTAAAACTCTGAATACAATGAGGTTTATTGCAATTGGTAAGTTTTTATGCTTATCTGCATCCTCTAGATTCTTATTAGTAAATAAGAACAAAGCTTAAAAATGGTAAGTTCTGTTTTGCCTGCACCATCAAGGACAGGTGTTGTGTCTCAGAACTCGGTGGCTCATGGATGATCCCAGAGAGGTGAGACGGTCAGGCAGAGGAATTCACCTTCTTGTATGAGGGTGATGGGTGCTGGTGAAGCTGTCCCAGCATCACAGGCTGCCAGTAGAGGCAGCAGGTGACATTAACAAGTTGTCAGGCAGATAACATGAGAATCATATCCAAAAGGCAGAGACTGCCAAAAAAGGGTAGGCCCTGGGTCTTATCAAGGAGTTGGAGAACCAAGCATATACTTGAAGAGGAAAAATAACTTGAGATTGGAAGTAGAAACCCAGTTATAGAACCAAGGCCCATTGATTGGGGGCCAGTGACAAGCCTCAACTAAGGCTCAGGTATGATTAGAGAGCTGCTAATAACAGTTACCATCTGTTGTGCAGTTACCATGTGCTAGGTACAGTGCTAAGCATTTTATGCATATTAACCTCTCTAGCCCTTGCAAAAAGTCCATTATGGAGATGAGTAAACTGAGCTTCTGTGTGCTTAGCTTACCTGCCTAACTGAGGTCATATTAAGTAGATGACTTGAAGTTGGATCAAGAAGCTTATGCTTCCAGAGCCCTGCAGGAGGGTGGGATGTGAGCACACACATGTGTTTGCGGGTATGTGTGAGTGCATGTGTGTGAACTGGGTGAGCATGCATGCATGAGTATGTGTGTTTGAGGGACAGTGTGTGCAAATATGTGTACAGGGCAGAATGGGAAAGGAGCCCAGTATTTCCGTTCTGGTCACTGTGGCACTGAAATTCTGGAACAGAGTGGGGACCCATTGGCCACTTCGTCTCAGGTTAGACTAAGGGCAAGAGTGGCCCAGTGCCCAGTGGGTTGGGGTGATGAGGGGGAGCAGAGGACACAACTATGTTTTACATCCTGTTTTAAGTCAGATGGACGTGGGAGGTGAAGGATAGTGGGCCTAGCTGGCAATAGCTACATCCAGTCGCCTAGGCAGTTTCTCATTCTAGAATAATATAAATAGGAAAACTAAAAGATTAGAGCTTTTAGACTAATAATAAACACTGATTTTGTGTTTTCCCAAGTCACCTTCATCTCTCAGGGCTTCCTGAAATCCTAAAAATAGAAATCTAAAAATGAAATGAAATCAAACATAAAAGTGCCATAATCTTATTTAAACCTAAAGATTTCCAGGGACTGAAATCACATATGTCCAGTACAACGTCAAGCACAGGGTGGGACACACTTAAGACTCACTGTAAACTCTTTGTGTGTGCAGTTTTATATTCACCCTGTTTTCATTTTAGAGTGATGTAGGTCTGAGATTTTGTGCTCATGATTTTACAGAACCCACTTCCAGGACTGATTTGTATTTTTTATGGAATTAAACTAAAAATATGAATATTCAACTGATTTTAAAAAGAGACAGCTCACAAACAGCTCTTTGATGTAAATTAGAAATTTATTCTTAAACCATGAAAATGTCACTTGAGCTCTATATATGATTGCAATGAAGTCCAAAGCTCTATCAGGCACCCAAAGTTAACTTATTAATATCTGAAACTGATAATGTGCCAAATATGCAGATTAGCCTAATTTTGCAAGCCAGGCTTGGACTATGAGTGATTCTCTTTGACAATCTCTGTAAAGATTGCAAAAGGAAGCCTAGCTTTGTGACCTACCCTGTGTCAGAAGAGGTCCAGGTGAAACCCATTTTAATTGTGGTAGTGTGCACTGTCCCCCATCCCACTGAATTCTTCAAATTGACTCAGACAGAAATGGAATTTAGAAATGTTCAGGATCTATACATTCTTTATTCTTATTCTTTCTCCTCTTGTTTGTACTTCAGAAAATTCAAAACACTGAATTTAATTAAAAGTTTGACACAGGTTTGGTCATCGCTAGACAATGCAAATATCAATCATATGGAAATGGAATTTTCTCTGATGAATAAATAAGGCTAATACTTAAGCATTTGATGACTTTGCAAATTACAGGGCTGGAGTTTTGCAGTGATCCATTCCCAAGTGGTACAAATTCAATATCTTCAATTAAATACTAAGATAATGTGTATTAAAACAAGCAGAAGAGCTAGAGATGGCTGATGGAATCATTTCTTTTGTCACCTATGTACTTTGAGAGAATTGTGGAAACTTCAGAAACCAGAGTGCTTTCTAAGCTGGATGGAAGGAATTGCATACTTCATCTTAGCATATAATCTGGCTATATTCCTAGAGTCTGGAGGTGGAAGCATTACTGTAATTAAAATATGGGATTTTACTTAGGTGATATTGTTTCAAAAAGCAATTACATTAGCATTTTTCCTACCACTGCTCTCAATGGGACTCTGTTCATCAGTAATTACACCAGCATTATCAACTGCTCCATGAGCCCTGGGTTCCAGTGTATCTCTCTCTGAGAAGTTATATTAAACAACACTTGTTTCTCCATACATAGCTACATATAAGCCCATACTGGGAAGCATTAAGCCCCCTGTTCTTCAGTATCTCTCTGATGTGAATTTTATATTCTGCATCTTTACTTACACTAAGAATGTGTGGGCTTTTCAAGTTATCCAGAAAATTTACATAAACCATTCACTCTTCTTTGCCTTCTTTATTTCCCAAAGATAAGAGGAAGACTCTGATTGCAAAATCCAAGGCAATGAATATTAGGTGAAGTATTCTTTTATGTTTTGCTGCAAAAGAAACTGGGAAGAAGATGTCAGGGGAAGCAGGAAACAGAATAGCAGAAAATAGTTTGGGGAAGGATGGTGGTGGTGGTTGGGTAGTTGTTAGAAACATGGCTTCCCTTAGGAATATAGAATTGTCCTTTAGGGAAAATAAGACATTTGCTAGCACTGGTCCATGTCATCACAGATAGATGACTTGTCCTTTCTCTGAGTCATTGTTTTTACCAGGAGACTTGAGAGGTGAGGGTGAAAGGAGGAGGGAATAGGTGAATGCTCCTCACTGGTAGCAAAGTTTGATGGTGGATGCAAGAATCCTTCTCCTCCTCTGTGTGACCTGGGGATGCAGGAGACTGACAGTTGGACTCATGGAAAGGAGGTGACTCCTGTGATTTTTTTTTTTTTTCTAGAAAAGGGTCATGGATTAGAAAGAAAATAAGCCAGGTTAATTATTGAGGTATAAACTCCCTGTCTGGTTCATGGTGACTTAGGATAAACAGAAAAAGGGTTCTTTTCTCTCTGAGGACTATTTGGTGTCTGTTTCTGCCCTAGGAAAGCTACCATCAGCCACCTGCATTGTTGTTGATCCCACCTACCCACTCTGATGATGGGGAGAATGGGGTCCTCCTAAGCCCATTAATTTTTAAAGTTTGCTTTATAGTCATGTTATGGGATAACATAAAAGTCACTCCCCAAATCAGATTTTCAAAAGAGAACATAATTAAATCACTTGCCTCTCCGCATTCTGTGCATCAAAGGAGGCAGGGTTTGGGGGAGGGCTGGCTGTGGCCAAGAATAACAAATGACATTAGAAAATTGGTACCACATACTAATGACCAAGAGGCAATATGCAAGTGGAGAGCAAAGCTGTGGGGTGTTCAAGGATTTTTATCTGTGCACTGTCCTATGAAAATATCCGGGAGTTCAAAAATGAGAAAAAGATGTTTTCTCTAGTCTGCTAATTTCAAAATAAGAACTTAGGAAAAGAAAAGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGAGGGAGAAAGAAAGAAAGGGAAAGATAAACAAAAGTAAATAAACAAAAGCTGTTCTTTCCTTAGCTGGTCTATATCATAGTCTCTAACCTTACATCTTTAGACAAAACCCCAAAGAGAAGTTAGAAACCACAGCTCCTCTGATTATAATCATTTCTCCATCTAAAATAAGTAGTATTTCTCTATTTCCTACCACACTCAACAATAATTGTACCATGCTGCTAGTGAGGCTTACTCCTGCAGCCCCAGCATCACACAGCAGGACCCATAATTCTGACATGATGAGTAAGACCAGCTCACAGGAAGACTTTCTGGGGGAGATTTTTTATATGCAAAAAAATCTTTCATAGTCGGGGCATGGGGCTTCAGGCCCAGGCAGCTATTTATTTAACAATCTTCATTCAATCAACATTTATTTTGAGCCAGCATGACAAATTTAGGAGAAAACAATATTTTTGTGTGGTTGACCTTCATGGAGGAGGAAGGTAGAGAAGAGATGAGATTGTCAAAGGAGATGAGGCAGGCTCTTATATGCTATGGTAAGGAGTTTGGATATAATCTATAATCTTTCTTTCCACCTACCCATCCACGCTTACTTCCATAAATTGCTTTCTGATACCCCATTACTGTGCCACCAAGATAACATGGCTCACAGGTGGAGCTACTAAAGGATTAAACCATGGAGTTGACAGGATCCTGTAGTGATTTACAAAATAATATTCTGGAAACAGTGTGGTGATAAATAAGAGGAGGTAAGGATAGAATCAGCAAAACTAGAAAATCAGTGGTGACAACGGCCGGATGGTCAAGAAGGGCCTGAAGGCAGTTGATAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCGTGTGCACGCATGTGTGTGTGAGAGAGAGAGTTGGACACTTAGATTGAAGGGAAGAAAAAAGTCAATAACAATTCTGAAGTTTCTAATCTAAGAGTGTTCTCTCAGACTCTACCATTTTCACTAAACATCTTCCTCATTATCACCCATTCACTGGCCAATAAAAGCAAATTTAAGGGCCATTTAAGACACCTATGGACTCTCCTCACTCTTCCCCAACCTGCTCTGGAACGAACCCCCTTCTTTCCAAACAGGAGGTCCTCTTGAGTGTATGCCTTCATTCGGATGCTCTCTCCAGCCATATGGACTAGGCCTTAAGACCTGCCTGACTGAGAAGTGTTTCTCAGTCCTCCCTAAGGGCTGCAACTTAGGTGTGCTTCCCACCCCACCTTACTTTAGGTGGATTCTCTGCTCCAGCTGGATCTTCTTGGAACCCAATAACACTCCAAGAGGGAGTCTGGTGCCCTCTCCCTAAAAGGGAGTTTGGGTAGAGAAAAGAGAAAGAACACTTGAAGGAAAGGCGACCACGAGTTTCTTTTAGGTACATTGGGTTTGACATGCTTTCTGGGCTACCCCGCAGGAGAGAGTTGAATTGGGGACACTGGTTTGGGAATAGTTGACACCGTGGGAGTAGATGATGTCAGCTTGGGAGTGTGTGTGGCGTGAGAGGGGAAGCAGGCCCAGGAGGAAAGCTGGGAATGCTGACAGAAGAGGAAATAGTAAAGAATAGACAGAAGCAGCAGCTGGAAAGAGAAAGGAAGCCAAAGGAGAAGAAAACTGTGAGAAGAGAGTGATTTGTGAACTAACAATAAAATCCTAAGCCCCCACTGACTGAATGTGCCCTGTCTTGACCAAGGGGACCCCAGAAAAACCTTAAAAATGGAATTCCCAGCTATGACAGGAAGGGGGCTTGGACACACCTTATTACACTCCCTCTCTTTTGGAGTTTAGGCACAACTGACCAGTATTAACGTTAAAATAGAGATCATAAGACTAACAACACGGAATTTATCTCAATAAAATACCAAATTATAAATAATACCTAAGGCCATGTCTGACAAGGGTTAAGTAACACACCCCTGCAGGTCACTCTGACCCAGTGTGTTGGTTAATAGACTTCCTTATGGTAAAACCTTTCCTTCTGCTGACTCCAAATTTTTAGACAGAGCTTTACTTCTTTAACTAATTGCAGACTAAAGAATCTCTGAATCCACCTGTAACCTGTAAGTCCCTGCTTCATGATATCCCATCTTTTTGGGCCAAACCAAGGTAAACCTTTGATGTATTGATTTATGTCTTTGCCTGTAACTCTTGTCTCCCTGAAATGTATAAAACTAAACTTTAGTCAGACTGCTGCGGGCACATTTTCTCAGGATCTCTTGAGACCACTCCCCAGGACATGGGCACTCATATTGGCCCAGCATAAACCTCTTTAGAATATTTTACTGAGTCTGGTTTTTCCATTAACAGATCATTTGTGTTAAGTATCAAAGAGGTTTTTGTGGGAAAAGACCAGATAAAGTCTTGTATTGGGTGTTGAACTCTAAAGCAGACAAGCAGTGGTCCCTGGAGGAAATTTTAATATCCCTCCTTCTAAATCCAAATACTGAATTGTCTCACCTTTCACAGCAAGCTCAAGCCAAAGATCAAATTAAATTGAAACAGAGGGATTGTGCTGATGAGCATGGCTTAGAGAAGCTGCCAAACGATGCTTAAACAAGACCACGTGGCCCTCTCAGCTTTCAGCACACGGTTAAGGGCCAAAGAGAATTTTACTAAATAGGCAGTATGATTGCAATTAAGCCAAGATCCAGCTATCAATTAGTATACCTACAGTCAAATTTCAGGTATTAATTTACTTTTAAATTTCCCATTTATTAGAAATAATTATAAACCCCAACTACGAAGAAGTAGTTTTCAGTAATCCATTGATTTGCATTCTTTTTGTTAGCATAACCAATCATCATTCCGAGGCTCATTCTATAACTGAATACAAGCTCAGCTGCTCACAGCTTGCAAAATCAAATGAACAAAGATGAGACGCAGTGAAAGGACCGTGACTTTAATTGCAAAAGCTAGCAATTGAGGAAATGGCCAGGCTCATACCTTGAATAAACCGTTTCAAATTTTGGGCTGAGTATAGAGGATTAGAAAGGAAAACTTGGCTTGAGGGGCATGCAGGAGTGGCAAGGAGGTGCTGGTCTATGTGACTTGTTCTGATGACCATCTTGAGTTTTTGTTCCATCTGGTGAATGGGCTGGCAAAGTCTTGGTTACGGCTGGGTTGTAAATTAACTCTAGCCTTGAGGTAATTTCCAGGTAGGGGAGAAATCCACAATCAACTGGTTTGTTTCAAGATTTAGTCGCTGGAACTTCTAAGCAATCACATAATTAGATAAAAAAGAAACAGTGTGCAAGGGAGTGACTGGTGGAAAGACAGGAGCAAAGGTTATTACATTATTAAGAACAAAACAGGAAGGAAAAGAAAAGGATTTTAAATGGGCTACTCAGTTACAATTCTATCTAGTAGCCTTTATTAGTTTGAGTGTTTATTGTTTCACTATCATATGTTCAGATATAGGTTAATTTTTTTCTGCTCAAGTCTTTGCATGTTCCTTTAAGTATTCATGTTTTCCCATTAATTTTAGAAGTTTTTATGAACTTATGTCTTAGAATATCACCCTTGTTTCATTGTCTCTATTTTTTTTTAACTTCTACTTTAAGTTCAAGGGTATATGTGCAGGTTTGTTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTGTAGATTATTTCATCACCCATTAGTTATTTTTCCTGAACCTCTCTCTCATCCCACCCTCTACATCCGATAGGTCTCAGTGTGTGTTGTTTCCCTCTAAGTTTCCTTGTGTTCTCATCATTTAGCTCCTACTTATAAGTGAGAATATGCGGTATTTGGTTTTCTGGTCCTGTGTTAGTTTGCTAAGGATAATGGCCTCTAGCTCCATCTATGTTTCTGCAAAAGACATGATCTCAGGTTTTTTTTATGGCTGCATAGTCTTCCGTGGTGTATGTACCACATTTTCTTTATCCAGTCTACCACTGATGGGCACTTAGGTTGATTCCATGTTTTTGCTATTGTGAATAGTGCTGCAATGAACATATGGGTGTGTGTGCCTTTATAGTAGAATGACTTCTATTCCTTTGGGTATATACCCAGTAATGGAATTGCTTGGTTGAATGGTATTTCTGTCTTTAGGTCTTTGAGGAATCATCACACTGTCTTCCACAATGGGCGGGCTAATTTACACTCCTACCAACAGTGTATAAGTGTTCCTTTTTCTCTGCAACCTCACCAGCAACTGTTATTTTTTGACTTTTTAATAACAGCTATTCTGACTAGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATCATCAGTGATCTTGAACTTATTTTCATGTGATTGTTGGCTGCATGTCATGTATGTTTTCTTTTGAAAAGTGTTCATGTCTGTTGCCCCCTTTTAAAATGGTTTTTCTTTTAAATTTAAGTTCTTTGTATTAGGTTGGTGCAAAACTGTGTTTTTTGAAAAAAGTAATTACTTCTAATGGCAAAAACTGCAATCATTTCTGCACCAACCTAATAGATGCTAGATATTAGTCCTTTATTAGATGCATTGTTTGCAAACATTTTCTCTCATTCTATAGGTGGTCTGTTTACTCTGTTGATAGTTTCTTCTGCTGTGCAGAAGCTCTTTAGTTTAATCGGGTCTCATTTGTCAATTTTTGCTTTTGTTGCAATTGCTTTTGACATCTTTGTCATGAAATCTTTGCCCATGCCTATGTCCTGAATGGTATCAGCTAGGTCTCATTTTCTCTATTTTCTTCTTCAGTTACTCCAATATATACATGTATGTGCTTTTGTGTGTTGGAGGGGGGAGTGGGTGTGTGTATGTGTGCATATGAATATAAGTACAGCTACACATACCTTTTCCTTACATTTTCTCAATTTTTTAACTCTTCTTTCATCTTTTCCATCTTTATCTTATGCTGGACTCATATTCTTCTTTAATTCTCTTGAATGGTATCACTGTAATTACTACTTGAGGGTTGTTATTTTTGATTTATAAAACTTCTCTTTTGTTATTTTTTTAATACTGCCTTCTCCTATTTTTTTATTTCTCCCTTTGTCTGTTAGGACATTTCAAGTATTTATATTTTAGTCTCTTTCACATAGTTTTACTATCTTCAAGTCTTGTTGTGATATTGCAATGTAATAAGAAATATATACTTAGTCTTCATCTCCAGTTCCTGGCACAGAGCTCCTAAAACTCTTGGAATTTCCTGAGTGATTGGGGTGACAGAAGCATTTTTTGTTATTTATAATAAGCCCCTTTCAACCACACTGGGGTTTATGCTATCTTGGAGGATAGGAACTGAGGTACCAACGATGTGATTAGAGGGTTGGAAATTTAAGCCCCATTCCCTGACCTTCCGGGAAGGGAGAGGTGATAAAGATTGACCTAATTAGCAAGGGCGGTGATGTAATCAATCATGACTACATAATAAAACCTCCATAAAAATTCTAAACAACAGTATTAGGAGAGCCTTTGAGTTGATGAACGTATCAAGGTGCTGGGAGGGTAGCATGCCCACAGAGGGCATGGAGGATCCACCCCCTTATACCTTGACCTACTCTTCTCTTCCACGTGGCTTTTCCTGAGTTGTATCCTGGATAATAAACTGGTAAATATGTGATTTTCTGAGTTCTGTGAGCTGTTCTAGCAAATTATTAAACCTGAGAAGGGGTTGAGGGAACCCCTGAATTACAGGCAGTCATTCAAAGTACAGGTGGAATCCTGGGAGTTGGGATTGCCATCTGAAGTGAGGGAAGCCTTATGGGACTGAGTCTTTAACCCCAAGGGACTCCCCTAACTCTGGGCAGTGTCTGAATTGAGTTCAGCTGTGGGACACCCGGTTGGCATCTAGAGAGTTGGATAATTGCTTAATGTGAGGGAAAAACCCACATATTTGGTTTCAGAAATGTTCTGTTGAGAGTGTAGAGAAATAGTGTTTTTGCTTTCCTATGAGGTACAAATTCCTGTATCATAATAGTTCATTTATTTTTGTTTCATAACTTTTTATTTTAATCTTTGATCTTCTGTTTAGACTGATCATCTTCTCTGGAGTTGTGGCTTTGTAGGCGTGTGCTCACAAAATGTTTTGGGTTTGCCTCAAACCCAGAGTCTATAGACTATACCTGGCCTGGATCATGCTTTGATCTTGTATCATAACAGGCTTGTTAATTCAGACTTCCTATTCATGTATACTGATGCTGGGAAAGTCAGGCCTAAGCAGAATGCCTAAATTCATAAGCTCACCTTTCCAAAGATATATTTTACAATATCTCAGGGGTAATTATTTTCTCTAGCAGGGCCCTGATTTGATAGCAAGTGTCTGAGCTCCTTTCTAGGCTGGCAAATAGCAGTCTTCTAAAATCCATTTCACATATGGACCAGCCCTATAGAATTGCTGGACACAGATATTTCAGTTCCATGGCTCTACTTGGGTAGGCATTAGAGCTGTTTAGGCCAAAACCCTTTGTTAGTGTCTCAGATTTTATGCTACTTCTCTGGCTCTGAGTTTCTTCTTCACTTCTGGTACCTGCAAATTCTCATTTTTTTGGTTGTGACCTCAGTACTATATTTAGGGAGTGGGTTATATTTTATTAAGAATTATATGTTTTCATATTACGTCAGCCTCCCAAATTGACCTCTAATGATAGAATCCTTAGATACTAAAATATTGAAAATAAAATTGATGGCTGCTTTTATTTACCTCAGAGGCCCATGCACAATGTAAATAGACTAGCTAAGCATCTGAACCCTCACAGACACTTCCCTCAATAATATGCTTCCACTTGTCATCAGGGAAAAAAAATAACCGAAAGTACCTGCATATGAATGAAGAATCTGTGTTCCTTACATGATAGTCCATAAATTGCTTTACTTAATTTGAGTCACTTTCAAAACCATTATTTCTTTGATTCTTAGAACAATCCGATCATGGAGATTGGGTGGGTAGTTCTACTCCCATCTGAATGGAAATGAAAATGGGACAGGGGCTGGGGGGCAGTGTGCAGAGTGAGAAAACGTGGATGGTGGAAATTGGGTACTGTCAACATCTACAGGATAAGAGAAGGACATCATCAGGATATTGAAGAAAGGCATTTCAGGAGGCAGGAGCAGAACTGTCAGAGAGCGGCTGCTTAGAATACAGGGAGGAGTGGTCAATGAGGCCAATGGCTGAAAGGGCGAAAAAGGATGAAATATTAATTTTTATCCACTCTAAAGCCATTGGTGACTTTGGAAGAACAATTGTAGCAGAATATTGGGGTCTTTTCAAACAAAGTACGTTTAAGGATGAATGAAAAGTAAGAATGTGTATCTAGTGAACACAAAGACTAGTGTTAGGGATCATTGCGATAGTTTATTACTGCACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCTGAGGAAAGAGAATCGCTTGAGGCCAGGAGTTTGGGACCAGTCTGGGCAACATAGTGAGACTCCTTTCCACAAACACAAAAAATTACCTGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCATGAGGATTGCTTGAACAAGACCCTGTCTCAAATAAATGAAAGAAAAAAATAAAGAAGATAGAAGAGACCTTGGTGTCAGTATTTGTGGATAAAACAAAATTGTTCTCTTTACTCCTTATTAGAGTTTTGAATTAATACTTGTGAATTGGACAAATGGAGGTCAAATTTTAGCTTTAGCACTGAGAGTGCTATTGTGGAATGTGCCTTCAATGAGTGACAATCACAGGTTTCACATGACTGAACACCTGATAAAACGACCTTACCACCATTTGCTGGGCAAGCCCTGTGTGTGCCCCAGGGGCAGTTGCTTCCCAAATAAACAAAGCAGAGCAGAATGTCCCATTATTTTGTAATTTCCAAAATTAATTTGGTTGGAGAAAATAACCATACCATATTCAAAGCATATGCAATATCTTACACTTAAAATATAATTGAAATATTTAGTTACTTTGTATTTCAGTACATTAATATTTCTGAAAACATATTTGATTATTAAAACCTCCACTTCTAAGCAGAGTAAACACATTCAAAATCACTTCTGCATATCCTCAGTTTGAGTGCCAACAACAAGCAGATTAAATTTGGAGAGGCTCTCTTTCTTTGCTTTAATTGAATCTTTTTTTTGTCCTGTTCACAGAATTGAAAGTGAAGACTGATGAATCATGCCTTCTGATCAAGACCCATGTTGGAGATTGTTGCCCTGACCTTGGGAAAGTCTGTGTCCATGTAAATTCAGATCTTAATGAAACAAAAATAAATGTAAAGCATTTTCTGGGAAACAGAAAAGTTTTGCTGAATGAAATCTAGGATACCAGCCATCAAAAAGACAACTTTCAAATGCTTGATTTACAAACTTTTCTGCAAATAATTTTAAATATGTTTTTCTTGTGGTAAGTAAAGAACATTAAAAATTCCCAGATTTTTCTGGTGACACTAAGTGTATAGAAAGCATATAAAGTTTCCTGATAAATGCTGATGTGAATACGCTTTGAGACCATCTGCATCTCTCCCATGGAACCTGATGACATTAGAGCTTATGGCTTGAGAGTAAACAGAAAGGTTAATTTTCTTTTTTATAAAGCTCTTAGCTTCAGATACATGGGATAGAGATTGATGGTAGGACTTGGCACCAGAATACCAATTGAACAGTGCTCACGGCTCATTTGGGAATCAGGTCTCCCCAAGAAAAGCTGGGTTCTGACCTCACTTCTGACACCTTAAGAAAAAGCCATTTCGTTCAGTCCAAGCCCCAAATTCCCATTGCCAGCCTGAGTTAACAATTTAACATATAGGGAAGATCCTATAATTAAAAAGTGGTAACGTTAATAATAAACATGTACTGAGTGATTATCATGTGCAAGCCACTGTTCTAGTGCTTTCCATTTATGAACTCAATTACTTCTCACAATGACCAAAGCCATGATTTAAAAACTACACACCCACCAGAAAGACCTTAACATCCTAATACTTGTAGTATGTTGAGTGCCTACCATGTGCTTAGTTTACACTTTAGGTAACATGCTTTATACACTATATGCCATTTAATCCTCACTGTATCAATCTAGTGTTTAGATGCAAACTAAAGCATGTTAGTTGCTAACTCTAGTTGACTTATCAGAAAAGAAGCTAAGTAAAAATAGGTCTGTCTCTTTAGATAGACCACAGAGACATTTGGAGGGCTGGAGAATCAGGCCCAAGACTGTGCTACCTAGAGCAATACCTATACCACACAAACTGGTCTAATGAGAAAAATGAACACTGCTGCCCCCATACTAGGTTTTAGTATATCACTGGCAACTTCTATGTTAAAAAATAAACTTTAAAGCAGCCATTTGCATCATTAATGTGACCGCCATTTCTTCTCGAAGAAATTTCATCCACTGCTACTACTGCTGCATCACTAGGTCCGGAGAGAATGGCAAGGCGTTGGAGAGCTGATGTCTTTTGGCTCTACCCTCAGATGTTTAGAGAAATAACTAGCATTTTCAGTTCTGACCTGGGGAGACCATTTTTTTTCCCTACTGATTTCTTAAATCTGGAAAGGAGTTCAGAGGAATGACAAATTTCTCCTCAGTGATTTTGTAAGAAAGGGTTTATTATCTCAATTTTAATGTATCATGGGACTAAGATCCAGAGAAGCTAGATTGGGTTCTTGCAAACAAACTGTAAGATGGAAAATATTGTGCAGGTTTATTAAAGAGTGCTCTCAGGACATACATCGCTAGGAAATGAAGAGAAAAGAATTGGGCAGAGGGACAAACTAACCTTCACTGCTATCACAAATGAGGCCTCAGACAATCCTATAGGACAACAGAATTGTCCCAAATTAAAGCTAGGGGACTAAGCCTTGTATCTCTGCAAAAAGCCAGTTTTTGATCACAAGATGCCCTTTGGATGGGGCAAAACCTTGAATGAGGCAGTTTTCTGTAGTTGAAAGAGAACGAGTTCCTGTTGTTTTGGTAATGGCAATGAATTCATCAATTTAATATAGATGAATTCCCGAAGAAATATTGATGGAATAGCAGTGGCATCCATCTCTCTTCCTATGATAGAATCTACATGAACCATATTTAAGTATTGTAAAAATATGACATTCAAAACTAAAGATGGACAACATCAAGTGTTACTAAAGATTTAGTGAAATTGGAACCCTCATACTTTGCTGGTGGGAATGTGCAATGATGCAGTAGCTTTGGAAAACAGTGTGCTCATTTCTCCAATATGAATCCCAGTGGTGTCTCTGTCACCCATTCCTTATCATCTGTAATGTTTTTGTATTATGTAAGTCCTTTCTATCTAAAATATCTAGGGTGATTTTAGTTTTACAATATTTAGTATTATACACTGATACCTGACTGGTGTAACCTGTAATAACTAGAAGAAAGGTGGTATTATTCCTTCTTCACCTAGATCACTTCATTTAGTCCTGGGTTGAGGACTAAATTCCCACCAGCAATGTATGATGATTCCAATTTCACCAAATCCTTAGCAACACTTAATGTTGTTCATCTTTAGTTTTAATGTCATATTTTTAAAATATTTAAAAATGGTTCATATAGATTCTACTATGGGAAGAGAGACGGATGCCACTGCTATTCTACCAACATTTCTGTGGGAATTAGTCTATATTAAATTGATGAATTCATTGCCATTACCAAAACAGAACTAAATGAAGTTATACACTGAGGAAAACAGATTACTGAATCCATCCTGATAAGAGTGTAATCAAGAAGGTGAGAAACTTGAAACAAAGAGAGTTGTGCAAAGATCAAAGGTACCAGACAAAACTTATGAGGAACATAATGGCTGCTTTTAAATATCTTAAGCACCCTATGTGAAAGAATTCAAGTACATAGGAAGAAGTAGGACAAGTTTTAGGGACAAGTATGTGAAGAAAAGTCTCAGTGGTCAACTTGCCTTGTCAGGCATTAAGATTCCCATCACAGGAGGAGTTAAAGCAGAAGATGGGTGGCCACTTAGTGAAAAAGTCACAGGGGCGATCCAAGGATTCTGAAGCGGGAAGTATGCAAGAGTCGAGGCAGATGATCTTAAAGTGGAGGTAGCAAACCAGCAGTTCGTGGCCAAATACAGTCTACGAGATGCCATAACACAGGTGGATTTAGTTATCAACATTTATGAATCAATAGATTCCCATAAACATCTGAAATTTCTTTTTTCTCAGGGAAAAATATGAAAATATGGTAGCACTGCATTCCCTTTTGGCAACAATTGGTGATGCTAAAAATAGATTGTTTCTTTTAAACAGATCAAGTAGCCTATAGTTTACCACAGTCCCAATATTCCCACCCATTTAGGCTCTAGCTCACAGCTTTTATCCTATGCTACCTGTCTGGGATCTCAGTTTGCTACCACTGGATCCCCAAACCTAAGATTCTCTGATTCTTTGATGCCATGACTCAAAGTCCAGTTCAAATGTTATCTCTGCTGGGAAGCTTTTCCTATTCATTCCAGCTAAATGTTCTTATTCTCCTCCCTGAATACCTCTGGCGCATAAAATATTTACCACAACTTATTTGAGTTTATTCTTGCAACTTTCCAATAAGGTAGATGTTTGAGGTCAGGGATCTCACATATAGGAGATATCCTTCGATATTTTAGCAACAAATATCCCACATTGACTTTTAATGATGCTCTTTAACAAGCTGATTAATTTCACTGTAACTTAGAAATAGCTTTTTCTACACAAGGGAAAGGCTTACCTGATTTCCTTTTGACTGTAAAGTTTATTTTTGAAATTGAGTTCTATTTCCCCCTTGGAATTCAGGAATCTTAAAACAAATATGAAGGAATAATTTAACTTTTAGACTATGCAACTTCCTAGTTTTTAGTCATTGTACTAGGCACCAGTCAGAATGTACCTTTGCCATGTAAACTTATAAATTTCCTTCTTTCCTTCACTGAGAAATTAAGATGTAAGACTAATGCATTCCATGATGCCTAGAGTTTACATTTGAGTTTATAATTGCAAATTAGTTTCATTGTTATTGTTCTAGACATTATTTTTTCAAACCACAATAATTTTTTTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAGTATAGTGGCACCTTCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTTAAGTGATTCTCATGCCTCAGCCTCTGGAGCAGCTGGGATTACAGGCGCATTTCACCATGCCTAGCTAATTTTTGTATTTTTAGTTGAGATGGGCTTTTACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCATCGAGTGATTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGCATCATGCCTGGCCTGAAATCACAATCATTTTTGTTGGGAGGGAGTAGGTGAACAGTTTGCTACATTTGATCTAATCTGGACTACTGAGAATAACAGTATAATTTAATGCTTGGTAATTGTTTTTATATATAATTAATAATTACATATTACATATATCAGCTTTTTCTAAAATATATTCTATATAATACTGTTCAAAATGCTTCCCCAAATGCCCCATTTAATAAATAGGTTGCAAACTTATTAGATATCATACCCAACATAGACTGAATCACGATATTTTTTGAAGATACAGATAGTTCCAAAAAAAGTTACCAGAATTTTGCTTCCAATATAGACTATCCCATTTATTCTGGAAAAAATAAAAGAATAAATCATACCAGTGCTTTCACAAACTCTTCTCAAAATAGAAGAAAAATTTCCCAACTCATTCTCCAAGGCCAGTGTTACCCTGATAACAAAGCCAAACAGGACATCACAAGAGACCAATATCACTGATAAATATAGGTTAAAAATATTTAACAAAATATTAGTAAGTTGAATCCAGAAACATAGTGAAAACATTGTACTCAGGACGGGCAAGGTGGCTTATGCCTGCAATCCCAGCACTTTGGGACACTGAGGCAGGCATATTGCTTGAGCCCAGGAGCTCCAAATGAGCCTGGGTAACATGGCGAAACCCTATCTCTACTAAAAATACAAAAGTTAGCTGGGCATTGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTTAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAAAGGTTGCGATGAGCCAAGATCACATCACTGCACTCCAACCTGGGCAACAGAATGAGACCCTGTTTCAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTATACTCCATGATTAAGTATGATTTATTTCAAGAAGGTAAGATTGGTTTTCAGATATCTAATACTGTGTAATAATATTAACATTATTTACAAATTCAGCAACTTAAAACAATATGCAGTTATCCCACAGATTTTGTAGGTCAGGAATCAATGCATAGCTTAATTGGGTCTTCAAGTTAGTATTATACAAGGTTGCAATCAAGATGTCATTTGGGGCTGCAGTTTCATCTGAGGCTCAACTGAGGCTGGATAGTCCTGTAAACTCACTCAGGTTTTTTGGTAGTTTCTTATGATTATAGGGCTGAGAGCTTCACTTACTGGTTGTTGGCTAGAGGCCACCTTCAGCTCCTGGATGTTGCCTGTATTTCCTTGCCACTTGAAATTCCTCAACATGGGCAGTTGTTTCTTCAAAGGCAATGGAGAGAGAGATTCCAGCAAAATATCCCCCCGCCCTTTTTTTTTTTTGGAGATGGAGTTTTGCTCTGTTGCCCAGGCTGGAGTACCATGGTATGATCTCAGTTCACTGTAAACTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACGATGTACCATGCCTGGCAAATTTTTGTATTTTTAGTACAGATGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGACCTCCCAAAGCAGGTGTGAGCCACTGTGCCCGGTCCAAAACACCTCTTTCAATCTTCTATAATGTATATAATGTAATCATGTAATCTTAGACATTGAGTCATATTTGCTGTGTTTGTTTTATTAGAGCAAGTCCCAGGTTCTGACCATACTCAAGAGAAGGGAATCACACAGCCCACTTAAATGGGCTTACTCTTTAAGTAGGTTTCCCAGAAGTCTTGTCCAGTGACTACCACTTATTTCCCTTGGACAAACCTGGGCTACATGGTTATTCTAGCAACAAAGGGAGCTGGGAAATGTAGTTTCTAGATGGGCATATTGTCCACTAGAGTGTAATTGGGTTCTGTAAGAAAAGTGGAGAATAACTATTGGGTGGGCAAATAGCAATATTTCATTCAGGTGGAACCATATCACTGAGCCAGGAATATCAACTAGTGAGTCATACTGCGAATATCGAAAGCCAAAATGATTCTTTTTAGGACAAAATGAATCCATTGGCATTTCATTAATGGAACATGAAAATTATTGTTCTATTTGTTTCTACTTGTTTAAATGAAATACTTGTCTTCAATTCCAGTTTTAGAATGTGGGCCTTGAAATGCTTCAAATTAGCCAATTTAAAATTAATTCTGCTTTAGTAACATTTCATAAAAATGATTATAAATCAGAACAAAAACCTGTAGGGTATAGCAAGTTTCACAATTTCTTTACAAAAACAGCAATGCACCAGTAACCACAGAACAATAAAGAAAAATTAGAGGGGTATATCACAAGGGAAGAAATAATGGAAACCATTAGAGACTCAAAGAGCGGAAAGCCACCAAGAGAAGATGGATGGCTCCATAAACTTTATCACAGTTTTTCAAAAAAAAATACAACAATCTACCAGGTAGTGAAACCATTAAGTGAAATTATTGGTATAGACCAATTATGTCCCCCAAGAAATGAGATAATCATTTCCCTCTTACTGGATAAAAAAAAAAAGAGCAGTAGGAACAGAGACACATCCTGCCAATGAAAACTTTAAGTGGTGATTATAAAATATTCTCCAGAATGGAGTAATGAGTATAATGAAGGTTGTACACAACAAAGTAAAACTGTACTGAGATTGCAGCTTTAGAAAATCACTACAGTCACTGTGACTGTGGACATTCTCTGTGCTTCGATTCAGTAAAACCAGTTGATGGAGTGATGAATTGCTTCTTCAGCTTCTCATGGGTAGATTTAGGGAGAGAAAATGACAATTAGTGCCAATATTATAGAGATATTATTGGACAAATTCATAGGCTATCATCAGAAGCCCTCATGGTAAGGAGGGGAAGGTAGACTGGGTGATATTATTTCTGTGTTTATAGACAAATATCCCAAACAAAACCCTAATCAGCATATCCAATTGTGGGGTGAGGAGTATCATCAGTGACCTTAAAGAGGTGCCTGTGAAGGGTAAGGGGCCGGACTCTCCAGTTGCAAGATAGAGGATGTATTGCTGCTTCTCCATCAGACCAACTCATTTTCCTACTAGTGTTTCCTCTGCGTGGAACACATCTCCTCAACTCATACATAACTAATGTGAAGTGTGGGCAGATGTGGTATGTGTTGATGTATTGCTTCTAGGTGGAAGTATTTACTTGCCAGAACTTCGACACTCTTTCTTCTTGGCAAGGTAATTGTGGAGTTTGGAGATAGCGTCTCTCCCAGCCTGTTGCTGGGTGACCACATGAGCAGAGCTCCCAAGCTAACCCACAATGTCCAAGTAACATGAGAAATAAACCTCTTTCTTTTGGGTAGGGGGAGGGGGTTGTTTGTTACTGTAATATAATCTCCTAGCCTGTTCTGATACTTCATATCAAATCATCTTAATTACTTATTTATAGCACTGTTCATGATCCATACACTCTTAATGTGTTTCTTTATTCTTTTTGTCTGGCCTTGAAATGTAAACTGTATGTGGGCAGGGACCTTATCTGTCTTGTTCACTGATACATTCCCCAGAAAATGCATAATATGGAAAATAATAAATGTTCAGTAATATATATTCAATAAATAGTCTTTAAATAAGAAGTACAATTCTCTTTAGCCAAAGAATAAAGCAACATTTCTTAAATGCCTTTCCTAGGCATTTAAGGAAGTAAGAACCCTACATCCAAATTTCTAGCATTTATCAGCTGTGAGACCTTAGGGACATTACTTTATCTTTTTGTGTCTGATGCCTAAGTGTCTTCATCTGCAAAAACAGAAATAATCATATAAGGTTGTTGTGAGCATTAAATGAGTAATACAAATAACATAATAAACCATAATAATATATATTTATTACTAAAAGTGATACAAAGCAGATATCCAGGGCAATGTGCCTGAATGGCAAGCTATATTTTCCATCTTTCCTTGCGGCTAATTAGGGATATTATATTCTAGCTAATGAGATGTAAATTGAAATGTTGAGTGGGATATTTGGGAAGATGCCTTTCAAAGAAGGAAGCAAAACCCTCTTCTTCCTGCTGGTTGGAATGTGGATATAATGGATGATGTTCTAGCCCCTATCACATGAGATGAAGTGGAGGCTAGAAAACCATACACAGTAGAACAAAAAATAGAAAAAGCCTAGGTCACTGATGACTTGGTAGAACTGCTACATTAGCCATAAACAGTCTGTCTTCAAACTGCATTTTTTTGGAAGAATAAACTTTTACTTGTTTATGCCACAAAGTACTCATAGCTAGCACAAATTAAGTCTCTAACTGATATGCTCCCATCATATGTTGATCATCTATTTGATTTGTTTTTCCCAATTAAGAGTCTATTTATAGGGGTGTGTGTGTGTGTGCATGCATGTGCACCTGTGAAAATGTGTATATATATATATGTCTACCTTCATGGTGAAACTTTTACAACAACATCCTTTTTTCACTATTGTGCCAAGTTCTCTGGTGAGTGAAATGGCAATAGATCAGATGGCAATGAGTAATGTAAACCTGGATGTCTTCTTAATGCATTTTAAAAATTTTTTTATTTCAATAGGTTTTTGGGGAACAGGTGGTGTTTGCTTACATGAGTAAGTTCTTTAATGGTGATTTCTGAGATTTTAGCGCACCCATCACCCGAGCAGTGTACACTGTATGCAGTGTGTAGTCTTTTATCCCTCACCACCCCCTACCCTTTCCCTGAGTCCCCAAAGTCCAATGTATTATCCTTATGCCTCTGTGTCCTCATAGCTTAGCTCCCACATTTGAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAATTACTTCACTTAGAATAATAGTCTTCAATTCCATCCAGGTTGCTGCAAATGTCATTATTTCATTCCTTTTTATGGCTGAGTAGTATTCGATGGTGTGTGTGTATGTGTGTGTGTGTATATATATATATATAAATGTGATATATATATATATATATATATATATATATATATCACATTTTTTATCCACTTGCTGATTGATGGGCATTTGGGCTTGTTCCATATTTCTGCAACCGCAAATTTTGCTGCTATAAACATGCCTGTGCACGTATCTTTTTCATATAATGACTTATTTTCCTCTGGGTAAATACCTAGTAGTGGGTTTGCTGGATCAAACGGTGAATCTACTTTTAGTCCTTTAAGGAATATCTACATGGTTTTCCATAGTGGTTGACTAGTTTACATTTCAACCAAGAGTGTAAAAGTGTTCCCTTTTGATTGTATCTGCGCCAACATCTATTTTTTTATTTTTTGATTATGGCCATTGTTGCAGGTGGTATCACATTGTGATTTTGATTTGCATTTCCCTCATCATTAATGATGTTGAGCATTTTTCCATGTGCTTGTCGGCCATTTGTATATCTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTGATGGGATTGTTTGTTTTGTTCTTGCTGATTTGTTTGAGTTCTTTGTAGATTCTGGGTATTAGTCCTTTGTAGATTCTGGGTATTAGTCCTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGAATGTCTGTTAACTCTGCTAATTATTTCTTTTGCTGTGCAGAAGCTTTTTAGTTCAATTAGGTACCATCTATTTATCTTTGGTTTTTTTTGCATTTGCTTTTGGCTTCTTGGTCATGAAGTCTTTACCTAAGCCAATGTCTAGAAGGGTTTTCTCAGTGTTATCTTATAGAATCGTCATGGTTTCAGGTGGCATTGCTATAAAAATAGGCTCATAGACAGAATAGAAAACCCAAAAATAAAACCAAATACTTACAAACTAATCTTCAACAAAGCAAACAAAAACAAAGTGGGGAAAGGATGCCCTATTCAACAAATGGTGCTGGGATAATTGGCAAGCCACATGTAGAGGAATAAAACTGCATCCTCATATCTCACTTTATTAAAAAATCAACTCAAGATGGATCAAAGTCTTCAATCTACGACCTCAAACATCCCTATTTATCATTCTTAATGTTTGGATTAATGATTTAATCCAAAAACTCAGGCAAAGTCCAGGGATAGGTTAATATCTGCTAGAGGGAACCATAATAAACATATTCATGAACCAACTGTTATGTACAAGTCAAACAAACAAGTTAATTGTTTGTTAGCAGAAGAGATTATGAGTTTATTTTAGGCCATTAGTGTATATTACTCAGTTAAATTGTGTTTATATTCTGTAAATCTTTAATATTTCACCACAGGAAAGAAATTCAGCCCATATTTCTACTGGAAACTCCCAAAGAAGACTTAGAGCATGACTTAAACAAATTAAAAATTAAAATTAAGCATAAGCAGTGGATCAAGTAATGAATTATTTGACGTTTAAAGCTTTGGTTATTAGTCAGAATTAAGTCTTTAGTGATATAATGGGCTGGTTGGTTTGGTGGACTTTACAATTGTTTTTAAATAAAGAAGGTTTCATTCAAAAGTTGCCAACCTCATCTTTTGGGTACTGTTTCTAGAGTCATAAGCAGGGTCCTCTTCGTTATGCAAATATAAGATAAATAGGCTCTTCTTTCTAATACTCTTACTAAATTCTTGGGTAGGGAATAGGCAAACTGATATAGGTCCTTGAAACTTCCTGGAAGTTTTCTGAGAAATGCATTTAAGATCCCAAACTTCTTTTACTTTAAAAATATTTGAAATTTAATGTTAAAAGAAACTCTCTGTAAAGTGTAGACGCTGCTGATGAGATTCAACAGCAGAAAAACGAGTCCTACAAGAAAATTCTTCAGGGCACTAGGGCTAAATTTGGCCTTGGCATCTTGGCTGATACTGCGATCACAGGAGACTTGGTTTTGACATTTGGTGACTGTACCTAAGAGCACTTTGGGCCTAGCCATTCTAGTACAGTGGCTGCCTTTGAGAAATGGATCTGAACATGTAAATGTAAACTAAATAGCTAAAGTGGAGAGAGCCAGCAAGAGCCTAGCTGTGGACAGGTATGGAATTACTAAAATTTCATGACTGAGTTTTACCAGCAACAACATGTGAAAGTGGTAGAAGTAAAAACAACTGGAAATAGTAGACCAGTTAGATTCTTTATTTCCCTGAAGAATTTGGAAGGTGACACAAAGATTAAGAAACTGTATTATTCAGGATTCTCTAGAGGAATAGAACAGGATATGTATACTGGAGGCCAAGAAGTCCCACTGCATGCCATTTGCAATCTGGAGAACTAGAAAAGCTGGTGGTGTAATTCAGTCTGTAGTTGAAAGGACTGAGAAATGGAAGAGCCTATGGTATAACTCCCGCTCAGAGGCCCAAAGGCCTGAGAACCTGGAGTGAGGGCTGGTGTAAGTCCTGGAGTCTAAAGGACTGAGAAACAGGAGCTCTAATATTTGAGTGCAAGGAGAAGACGAATGTTTCAGCTCAAGAAGAGAATTTGCCCTTCTTCTGCCTTTTTGTTCTTTCTAGGCCCTCAAAAGATTGAATGATGCCCACACCTCCATTGGTGAGGGCAGATCTTTTTTACTTAGTTTACTGATTTAAATGCTAATCTCTTCCAGGAACAAATGTTTTACCAGCTGTCTGGACATCCCTTAGTCCTGTCAAGTTGACACATAAAATTAACCATCACAGAGACCAAAGATTAAGCACTGAATAGAAAGGTATTTATTGTCCTAGTGGGAGTCCAATCCTGCATAGAATCTAAGTGAATAGAAGATGAAGTTAGGGGAGAAACAATTGGGTAGATCTTTTAAAGTCAAAAGATCATCAATCATCTTCCATATGGTTGGGTTCCCCAGAAAACAGACTCCGAGATGAAGATTTGTTTTCTAGTGGGTTACTGGGGAGTGTACTCAGGAATAACACCCATTAGGGAGTAAGGCTAACAGGAAGAGAGTGACCACGATAACTCTACCACCTTTGGATCCATGGCTCCATTGGTCAGATAACCCACACATTTGACGTATCTCTTTCCTACCATTTGGGAATGCTAGGAGACGTGCTGTCACACAGTGTCAAGATGATTCAGAAAGACTCATGGAATTGAGGAGATGCCTGTAAATTAGCTTCTGAGTCTTAAAAAATAGCCTTAAGCACATCATATAATTAATGTATAATATTTGATGTGACTCCATTAATTTCCCAAGATATTTACTCTTTCCTTGTCAGTTCCATTATCTTGCCAGGCACTGAAGTCTAATTACATGTTAGTAGTTTTATCTAATCAGTATCTCATAGCAACTTTTAAATATGTGTTCTGGGTTCCAATTTCCTGACACTTTTGGGGTTTGCCCAGATATCCCTACCCTCCTATGTTTCTCAGACTAAACACTTCACAGTTGACAACGTGCTTTTATAAATTTCTCAGATTGTAAATTTACCTACCACTTTCAGATATGCAAAGAAAGCACAGCTTATGTATTTTTCATAATTTACCTAATCATCTTAAGAAGTCCCCTCTTTATTGGGTAGCATGGGAAGAGGACACTACAATTAGTCCAATTCAGTAAACTCAGTTGAATCCTATAATTTAAAGACCATCTGATGTATAGTTTAGTCTCTTGGATAAGTCTTTGTTTTTATGCTTCGTGCATTTCTGATTCTCTCCAATATCAATCCAAGAATATAGGGAAGAGGCTTATGTGACCTCATGGCAGCAGGGAAGAGGAACAGCCCCTCAGCTATGTGTCCATGTTTTTTGAGCATCTTCTTGTATCTTCTAGACCCAGGCAATGCCACTTTTCCTCTGGTCAGTGGGTTTCCTGTTGGTACCTAATGGCTCAGTCTGTTGTTTATGACATTGGGAGATTTTCTTTCTTGGTTCCATTAAATCCTGGTGGAGTCAGAGCCTTAGGATTCAGTCCTTGACCTTGACCCTTGCTTTTAAGGGAGGAGACCACCCCTTATATTGTCTTATGCCCAATTTCTGCCTCCAAAGAAAGAAGAAGTAAAAACTAAAAGGCAGAAATGAAATCCACAGGCAGACAGCCTGGCTCCATGCCTGGGCCTGGTAGTTAAAGATCGACCCCTGACCTAACCGGTTATGTTATCTATAGATTCCAGACATTGTATGGAAAAACATTGTGAAAATCCCTGTCCTGTTTTGCTCCATTCTGATTACCCGTGCATGCAGCCCCCAGTCACATATCCCCTGCTTGCTCAGTCAATCATGACCCTCTCATGCAGACCCCCTTAGAGTCGTAAGCCCTTAAAAAGGACAGGAATTGCTCACTCAGGGAGCTTGGCTTTTGAGATGCAAGTCTGCCAAAGTTCCTGGCCAAATAAAGCTCCTTCCTTCTTTAACCTAGTGTCTGAGGAGTTTTGTCTGTGGCTCATCCTGCTACATTTCTTGGTTCCCTGGTTCCCTGACTTGGAAGTGAGGTGATTGGCAGACAGTCGAGGCAGCCCCTTAGGTGACTTAGGCCTGCCCCATGGAGCATCCTTGCAGGGGACTCCAACCAGCCTGAGTGACATGGATCCTGACAGCACTCCCAGGTAGGCAATTGCCCTGTGGGATGCCTCGCCAAAGCAGCATGTGGCAGGCCCCCATGGAGGATCAGTGCAGTGGCTGAATGCTGGGAAGGAACTAGCTCTTGGAGTCTGGATATCTGAAACTTGGTAAGACTGGTCTTTGGAACTTGCCCACTCCATTTGAGTGGAAAGGCGTGCCTGCACCGGCATTTTGGTTTTTGTTTTTGACTTGATTTGGATTGCTTGATACTTTGGTTTTGGTTTTGACCTGGCTTGGATATCTTGATACTCTGATTTTGGTTTTGATTCTGGTTTGGTATAAACTGTAAAAGTGTGTGTATGCCCTTTTTACCCATTCTTTGTTTTGTGGTGTGCGTGTGCTGTGAGCGTGGTGTTTTGTCTCAAGGAAGCGTGGGTCAGGCACAAAGTAAGCCCACCCCACTAGGAACTATGTTGAAAAATTTCAAGAAAGGATTTAAGGGAAATTACGGTGTTACTATGACACCAGGAAACTTAGAACTTTGTGTGAAATAGACTGGCCAGCATTTGAGGTGGGTTGGCCCATCAGAAGGAAGCCTGGAAAGGTCCCTTGTTTCAAAGGTATGGCACAAGGTAACCTGTAAGCCAGGCACCCAGACCAGTTCCCATACATAGACACTTGGTTACAGCTGGTTTTAGACACCCCACCTCTGGCCCCCGCCACAGTGGTTAAGAGAACAGCAGCATAAGCTGCTGACAGAGGCAAGGAAAGACCAGCCAAAGGAGAGAGAGGAAAGAGATAGAGAAAAAGAGGGAAAGCGAGAGGAAGAGACAGAGAGACAAAGAGAGAGTCAAGGAGAGAGAGAGAGAAAGAGAGAGGCAGAGAGACAGGAAGAGATAGAGGCAAAAGGAAAGTCAAAGACAGAGAGAAAGAGAAAGAGATATATACAAGTAGTTAAGAAAATAAAAACACAGTGTACCCTATTCCTTTAAAAGCCAAGGTAAATTTAAAACCTATAATAGATAATTAAAGGTATTCTCTGTAACACTCCAATACCACTTTGTTGTCATTTAAACAAGGGCATATCCCGAAAGCACCGAGGACTTCCTATCAAAAATCCTTAACCCAGTAACCTGCGGATGGCCCAAATGCATTCAATCTGTAGCAGCAACTGCTTTGCTAACAGAAGAAAGTAGAAAAATAACTTTTAGAGGAAACGTCATTGTGAGCACACCTCACCAGTTCAGAAGTATCCTAAGAAAAAAAAAAGATGATTTAACATTAACCACTGAAAATTCCCTTAACCCGGCAGGTTTCCTAATAGGGGATCTAAGTCTTAATTACCATACAAAGGTCCAACCAGACCTAGGAGGAACTCCCTTCAGGACAGGACGATAGATGGTTCCTCTCACATAATTGAAGGAAAAAAAAAAAGCCATCTATACCAATTCTAAGTTAATTTGGACTAAACAACATCTATTAATAGCAACAGATAATTAAAATCTCAAACTTAAAAGGTTTTCAACAAAAGTAAAGTTTGCTAAAAGTTAACAGTGTAACATGTATTATAGTAACTTCTAATCTTGTGGCCTTAGACAGTCTAGTTCACCGATATAAAGGAAGTTCGCTTTGGAAAAAAATGGTTATCACCTTCAAAAAAAAGGGAGAAAAAAAGGGAAAAAAAATTGGGGGGCAGAATTTATGTAAAAAGAATGTTATATGGTAAATTCTTGTTCTGAAATAAATTAACTGGTTGTTTAAAGAAAGAAATGTTTGCAATAGAAAATTGAGGCATAGTGTAGAATTGTCTGCGAAAGTCATGAAAGAGAAAAAAAGTTATAAAAAAAGAATTTATGCAAGAAATGCTGTATAATTTAAAAGTAATTAGGCCTCCTGAATGTAAAACAATTGAAACAGTTTATGTGCAAGGTGTATAAGGAAAGTAAAATATACCTCTGGTAAAAAGATTATAGGGAGGCATAAGAAAGTGGATTTTTATCTATATTAAAAGGTTAAAAAATTGTTTTAAAGGTTTAAGCAAGTTTTAAAACAATAATTGTAAAGGAAATTCTGTGTGTAAACATATTGGCTAAAGTTAAAGGAGTATCATCCAGTTTTTCTGTGAACTGGACATTAAAATAAAAGCACAACAGGTTTTTCTTAAAGCACTAACCTGCTCTTTAACAAAAATTATAAAAAAGGTTAAAAAGAGTCTACAAAAATCTTACCTTATGTCAGACATTAAAAATTGGATAAACATGTCTACAAGGTTTTATTAAAATTAAGTTTAACATTAATAACACACTAATATAAAGGTAAAATTTAGCCTATCTGGTGTAAAAATCATACAAGAAGCATTATTAAATATAAAATGGTGTTTGGCTTTCTTTGGTCTAAAAACTAATAAAAATAAGTGCTAAAGGAAATTTCTCAGTAAGAAGGCACCAAAGACTATAAAGTCCACTGTTGATGCTCCCACATTTAAAACCAAAGGTCGTTTTCTTAGAAATTATATACTTGGTTTATCTTCCTCTTTCCTTCCCCTCAAAACTAAAAGTCTTTTAGCACAGGTACCACCCCTAGAATTTTCAGTAAACTAACACCAGCCTAAAGATCACCTTCCCATCAAAGGGTGGAAAGAAGGAAAACTTGAGCCAGCCTAGAAGGACCCTACCTTGTGCTGCTAACCACCAAGACTGCTGTTCGTACAGCGAAAAAGGGATGCACTCATCACACCTGAGTCAAAGTGCCACCCCCTCCAGAGTTGTGGGCCACAGTCCCAGGGGAAAACCCTACCAAACTAAAGCTAAGAAAAGTTTAACTCTTTCATCTATTCTATTACTCTTTCTTCTTTCCTCGCTCTATTGCTGACCATCTAGTTATTAACATAACCAAGTCAATTTCATCTCAAACTATTGCATTTAATGCTTGCCTTGTTATACCCTGTGGGGACTTGCCAAGTCAAGACAGCTCTCTACTTCAGAAAAGTACCTGTGTCCCTCCTGACTCTCCTCAGACTGGGCATTAGTAAATTGGGATCATTAATCCAGGGAGATTTCAATAAAGACCCCAGTGACAACCAGGAGTCTTGCCCCCCGATGTAGAGCTTTTATGCCATAGTCAGTCCAACGTTCTGTGGACCACTAAAGAGCAAGGATGGACTGCCCCAACTGGTTTTTGTAATTTCCTAAAATCATACATTCATTTTACTAGAGGATTATAGAAGTTAAAGACTTAGGGGAAACTTTGGCCATTAAGACAGGATACCAAGGTGCAAATGCCTGGTTGGAATGGATCAAATATTCTGTCCACATGTTAAACAAAAGCAATTGTTATGCTTGTGCACATGGCAGGCAAGAGGTCCAGATTGTCCCCCTTTCCACTAAGGTGGTCCTCCAGTTGACCAGGCGTGGGCTGCATGGTAGCTTTTTTCCAGGATTCTACAGCCTGGAGTAATAAGTCATGCCAAGCTCTCTCTGCTATATCCCAAAGTCCGGCACCCTGAGGGTCAGACCCCGAGGGCCATCTAGCTTCCGTCTTCCAACACTAAGTTCACTTCGTGTCTCTCATGACAGGGAGGAAACTTAGTGTTCCTTGGAGATCTGAAGGGATGCAGTGAGCTTAAGAATTCTCAAGAGCTTATCAATCAGTCAGCCCTTGTTCATCCCCGAGTGGATGTGTGGTGGTATTGTGGTGGACCTTTACTGGGCACTCTGCCAAATAACTGGAGTGGCACTTCTGCTTTAGTCTGATTGGCTATCCCTTTCACCCTGGCATTTCATCAACCAGAGGGAGGAAAAATAAGACATCATAAAGCAAGTGAAGCCCCTTATGGGTCTTTGGACTCTCATGTCTATTTAGACACAATTGAAGTCCCATGGGGAAAACCAGATCAATTTGAAGCCTGAAATCAAATAGCTGCAAGATTTGAGTCAATATTTTGGTAGGTGACAGTTAATAAAAATGTAGATTGGATAAACTACATCTATTACAACCAACAGCAACGAGCTTTTCATGAGATAAAAGAAAAACTCAGGTTGGCCCCAGCCCTGGGGCTACCTGACCTGACAAAACCTTTTACACTATATGTATCAGAGAGAGAGAGAGAAAAAAAAAATGGCAGTTAGAGTTTTGACCCAGACCATGGGGCCCTGGCCAAGGCTGATGGCCTACCTCTGTAAACAACAAGACAGGGTTTCTAAGAGTTGGCCCCAATGTTTGAGGGCCTTGGCAGCAACAGCCCTGCCAGCACAAGAAGCGGATAAGCTAACTCTTGGGCAAAACCTAAACATAAAGGCCCTCCATGTTGTGCTGACTTTAATAAATACCAAAGGACATCATTGGCTAACGAATGCTAGACTAACTAAATACCAAAGCTTGCTCTGTGAAAACTCCCGCATAACTATTGAAGTTTGCAACACCCTGAATCCCACAACCTTGCTCCCGGTATCAGAGAGCCCAGTTGAACATAACTGTGTAGAGGTGTTAGACTCAATTTATTCTAGCAGGCCCACCCTCTGAGACCATCCTTGAACATCAGTAGACTGGGAGCTGTACTTGGACGGGAGCAGCTTCGCCAACCCTTGCAAAGTGACTCTGAAGACGACGACAAGCCCTGCTTCAGTCACACCGGAAGCTGACTGGTCCATGCACAGCCAAAGCATGAGGAACTCATTGCGGGACTCATTTTCCTTAAAATTTGGACTTGTACAGTAAGGACTTCAACTGACCTTCCGCACACTGAGGATTGTTCCCAGTATATACATCAAGTTACTGAGGCAGGACAAAAGGTTGCTACAGTCCTATTATTTTATGGTTATTATAAGTGTACCAGGACTCTAAAAGGAACTTATTTGTATAATGCCATATAAGGTATGTAGCCCAGGAAGTGACCAGCCTGATGTGTGCTATAACCCACCTGAGCCCCCTATGACTCCCGTTTTTAAAATAAGATTAAAGACTGGCAACTTCTGCGTTCTGAAAAACCTCAGTTATTAGACAATATTGTATAGCAAGGGTGAGGAAGGACTTCACCCTTCCTGTGGGAAGACTCAGCTGCATTGGGCAAAAACTGTATAATAGTACTACAAAAACAGCCACCTGGTGGAGTTCAAACCACACTGAAAGAAATCTGTTTAGTAAATTTCCAAAGTTGCAAACCGTGTGGACCCACCTGGAGTCCCATGGGGACTAGACAGCCCCCACTGGATTATACAGGATAAGTGGGCATAGAGCCTATGCCAAGTTACCTGACCAATGGGCAGGTAGTTCTGTTACTGGCACCATTAAACCATCCTTTTTTCTACTGCCCATAAAAACAGGCGAGCTCCTAGGCTTCCCTGTCTATGCTTCCCAAGAAAAGAGAAGCATAGCTATAGGCGACTGGGAAGATGACGAGTGGTGCCCTGAAAGAATCATACATTACTATGGGCCTGCCACTTGGGCACAGGATGGCTCATAGGGATACCGAACCCCTATTTATATACTCAACCGAATCATATGGTTACAAGCTTAGAAATAATCACTAATAAAACTGTCAGAGCTTTAACTGTTTTAGCCCGGCAAGAAACCCAGATGAGAAATGCTATCTATAAAATAGACTAGACCTAGACTACTTGCTAGCAGCTGAAGGAGAGGTCTGTGGAAAGTTTAACCTGACCAATTGCTGTCTGCACATAGATGACCAAGGGCAAGTAGTTGAAGATATAAAGATATAACAAAGCTGGCACATGTGCCCTTGCAGGTGTGGCATGGGTTTAATCCTAGGTCCATGTTTGAAAAATGGTTTCCAGCACTAGGAGGATTTAAAACTCCTATAATAAGAATTATAATAGTAATAGGAACCTGCTTGTTGCTTCCCTGTGTGCTGCCTTTGCTCCTTCAAGTAATGAGAAGTTTTGTTACTACCTTAGTCCATCAAAATACTTCAGCAAAAGTGTACTATATGAATCACTATCAATCTGTCTTGCAAGAAGACACGGGTAGTGAGGATGAAAGTGAGAACTCCCTCTAATGGGTGAGGTTCTCAAAGAGGGGGAATAAGGGAGACCACCCCTCATATTGTCTTATGCCCAATTTCTGCCTCCAAATAAAGTAGAAGTAAAAACTAAAAGGCAGAAGTGAAATCCACAGGCAGACAGCCCAGTACCATGTCCTGGGCCTGGTAGTTAAAGATCGATCCCTGACCTAACCAGTTATGTTGTCTGTATGAATCTGTAGATTCCAGACACTATGGAAAAGCACTGTGAAAATCCCTGTCCTGTTCTCTTCCGTTCTGATTACCAGTGCATGCAGTGATTACCAGTCACATACCCCCTGCTTGCTCAGTCAATCACGACCCTCTCACATGGACCCCTGTAGAGTTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCAGGGAGCTTGGCTTTTGAGATGCAAGTCCACTGAAGTTCCTGGCTGAATAAAGCTCCTTCCTTCTTTAACCAGGTGTCTGAGGAGTTTTGTCTGTGGCTCATCCTGCTACACTTTGACTGGCTATCTCCTTGGTACCTGGTCATAGCTCTTAACTGGGGACCACATTGTTCCCAATGCAGTTACCTCCCCTTACAGAATCACCAGTCAGCATCATCAACTACTCTCCATGTCTGCCCCACAGGATGCAGAAATTCTGGAACCGTTTCCACACCACATAGGATTTAGGGAGGTTTTAATTATATTATACTTTTTTTTTTTTTTATTTTGCTTTGGCTGCTTAACAAAGTTTGAGTCCTCGAACTTCTCTTGCTATTCTCCATTCACTCCTTAGGTTATCTTATTCAGTACTACAGCTTTAAATATCATCTATAAATGAATGACTCCCAAACCTAGATTCATATCGCAGACCTTTCTGCTAAACGCTAGACTCAGATACCAACTGCCTACTCAACAGCCCTGCTTAGGTGTCTAACAGGCCTCTCAAACATAAATGTCTAAAATGGAATGCCTTATCTTCTCCACAAATCTACTTCTTTTCCAGTCTTCTACAACTCGGTAAGTGGTGCCTGTGCTTTTTTAGATACAGGAGCCCTAATACCTGATCATTATCCATGACTTTCTCACACCCACATTCAATCCATTAGAAAATCCTTGTGGCTTTCTGACACGATTTTGCTGTGTCCCCAACCAAATCTCATCTTGAATTGTATCTCCTTTAATTCCCATGTATTGTGAGAGGGACCTGGTGGGAGATAACTGAGCCATGGGGGCGGTTTTCCCCATGCTGCTCTTGTGGTAGAGAATAAGTCTCATGAGATCTGATGGTTTTATAAGGGGTTTCCCATTTGCTTGGCTTTCATTTTCTCTCTTGCCTGCTGCCATATAAAATGTGCCTTTTACCTTCCACCATGATTGTGAGTCCTCCCCAGCCACATGGAACTATGAGTCCATGAAACCTCTTTTCCTTTATAAATTACCCAGTCTTGGGTATGGCTTTATCAGTAGCGTGAAAACGGACTAACACACTCTCTTTCAAAATTCATCCAGATTCTGTATTTCTTACCACCTTTCTCACCCTGGGCCACGACACCATCCCCTCTCTTCTGGATTAGCTTCCTTATCTCAACCCTTGACATAAAATCTACCTTCAACATAGCCTCCAAAGGGATTTTTAAAAATGCACGATTATCTTCTGTTAAACATTTTCCAAAGGCATTTGCTATTTCCTATGCCTGATACCCTCTTCCCTCAGATATCCACATGGCTCATCCCTCATTCCTTTAGCTCTCTACTCAAGTATCGCCTTCCAGTGGGGCTTTCCCTGATCTTTTAACAGTCATCTTAAAAGGCAATACCTGGGCAGGGCAGTGGTGGCTCATGCCTGTAATCCCAGGACTTTTGGAAGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTATTAAAAATGCAAAAAATTAGCCGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTTCAGCCTGAGCTACAGAGTGAGACTTCATCTCAAACAAACAAACAAAAATATGCAACACCCACCCCCAACAATGGAAACTCCCTGCCCCATTTTCCTGCTTTACTTCTCTGTAGTACTTATATTCCCACATGTATGCATTTATATATTTGTTATCCCATTTTCTCAATTGGAAAGAAAAGCTTATAAGTTTAGTAACTTGATTCTGCTAATTACTTTATCCCCCGTGTCTAGAAAGGTTCCTGGCATGTAGTGGGTACTCCATTAATTTGGGATATAATGTCTATTATATAGCTTACATCAGAATATAAGAAAAGTTCAAGAACCTTTTCAGCATAGCTTTGCTTCAGTTCCCTAATCTGGTTTCTCTGTTTGACGGCACCAGCAAAATTATTTTATGTCTCCCAGTGATCTGTTGGGGGATTCTGTCCTTCTGTCTTCTACCTTATGGTCTATGGGTTTATCTGTTTACCATCTAATTTGTGAGGGAAGTAGGATGGTACCTTAATGTTGAAAATCCAGCATTATGAAATTTGGTATTATTATAAAGATTTGACTAAAATTTATGTTTCGGACAATTCTCAATTTTTTTTTACAAAGATACTCAGCTATAACTGAGGTGTAAGAGGACATAGTTTGTTACATGTAGGCACAGATTTTGGGGAAAGAAATGGGAGGTAATTATACTACCAATAATGTTAAAAGCCACTATTTATTTAGTGTCAAACTTGTGCCAAAAACTATGTGTACTACCTTCACAACAGCCCTAGAAAATAGATATTGCTACTTCTGGTTTACAAATGAGAAAACCAGAGCCTGTCATTAATAACTTGATCCAAAGTCATGAGTTTAATGAGGGGCTGAGCTAGGGTTGTTGACTCTAAATTCTTTCCACTATACTGTGCTGTATTCACAGTAGTCTCCAAAAAGATACTGGCAGCCTACTTGTTTTTGAAAACTCTTTGAAATGCTGTTTTAAAATGATCTTAGGCGCCTTTTAAAGAAACATAGCAGGATAGCTTCTTATATTGTAAACTAACCGAGCCCACAATTTTTGTGACTATGCATGTCATCAAGCTTATTTGTTTAAGATTACATGCTGGCTAATGATTATATTGCTTTGCCAGTTTCCATGATTATAGAGAGATTTTTCATCTGGAACAGTGGAGGTGGCCTTTGACAGTGCAGAGGAGTGAGAGTGGACAACACAGTACATCACAATGGTAAGTATGTGACCTGCCTCCACCCTGAGCTTCTGCAGAAGCAGCAGGACAATGAAAGGAGAAGAAAGGTAATTACCTACATATGAGTGATGACTGCTGAAAACCATCTTCCCCACAGTGGTTAGACCCTGGGTTTTATGGTCTTAACATTAGCACAGCAGGACCTAATGCTGATAGCCTGGAGCGGGGAAAGCTACATCTTTCACTTTGGTGCTCTGCCTCTATGGTGTTTCTCATCGCCCTGCTGTGTTTCTTAAAGGTCTCAGGGCAGTCGTCCATCAGGGGTGACATCGATCATGCCCACTCATAACTTAGGCTTGTTACCTCAAGTCACATTGCATTGCTTCTCTGAAAGCACATAAATCCTTTATCCCTTTTTCAGGAATTCTGTTCGCCTACTTCTGTGATTTCATACACGGCAACACTTTGGTAAAGGTAGGCTGCTCTTTCCTAAGGCTGCAGGTTCATGCCTGTCAAACCTGGGCTAGAAAGAAAATATGCCCTGTAAATCGCTCTGTGCAGTGATTTGAAAATAATGATGTGACTCATTAGTATTCACAGGTAGAAAATGGAACCTGCTGTTTGTGTTCAGTTATTAAACAGTGTAGATGTCTTCCTGTAAAAAAGGTGGAAGTGGCCTCTACAATCATTTTCAGGTGTAAAATTCCTGCACACTACATCCTTTCCTAATTAATGTCAGTTGTACATTCTGCATTATATTCCCCTAGCACTTCTGGGCTGTGGATGTATTTATTATCATATCGTTTGAGAAGGAGGGCAGTGATTGACAACGATTCTCTTTACAAATCCCAAGTGGTGTGTAATTTGGTTTTCTAACTGTGCATGTTTGCACAATCTGCTTCCTACTCCAGCTAGATTACTATGAGTTGAAAATGCTCATCAGTGTGGAATTATATTTCTCAATATCTTGAGTCTGTTGTATGACTCGAGTGAGGACAAAATTTGAACATTCTAAGTATTAGGGGGCTCCCAAGTGTATCAACAGGTGATCAGAATGCACTATCATAGCTGCTACAGTAGATATACCAAGGAGGGCAGTGGAAGCACAGGTGCAAGCCAATAGAAGCTTCACTGAGAAAAATAGCACTTGAGTTGGGTCCTGAAGGATGGACAGGAGTTTGACAAGCAACAGGGAGAAGGACATTTTAGACTTCATAAATATGGAAAATCTTGGAACAGCAAGGCCTACTTGAAAAATGGCAGTTATAGCAATTACGTTATCTTTCTTATGTTATTCCCTCCCTAGTTGAAGCCTTTTGTTCCTTGAGTTATATGGAATTTAATATGTCTACTTAAATCCTAATGATAGGTTCACGGTCTTATGGTAGGGTGAGTACTAGGACAGAGGGAGCCATGAGGCTTACAAAGTGCAAGAGGTTTGAGTTTTAGGAAGGCTTCTCTCCTTGCTCTGTGACTCAGTTTCCTCATTTACAAAACAAAGACATCAACTGCCCCTGGTCTAAAGGTAACTGAGTGAAATATGACAGGCATCCACAGTCAGTAGATGAATTCTCCTCCTTGGGGGCTCATGAATGTTTCTGGTGGAGGCAGACAGAGGTGATGTGGAGCCCCTCTGAGATGTACAAGTCCAACATCACCAATGTGCACTTTGGAGTTATACTCACATGGGTACCTCAAGGCGTTGGGAAACTAAAACGTACCTCTCACAAAAATGTTGGGCACCCCCACATATGGAAAATGCTTGAAGTCTCTTGTTAGTCTAGGATATGCATATTATTCCTTACATATACTATCAGAGGATTTGGGGTGACTAATTTTAGGAAAAAAACTACCAGGAAAATACACTCATAAGTCTTCAGAGCATCTTTCAAACTAATAATCTGTGAGCTGTTATTAGCAAATTTTATATTCAAGAATAAGAACAATTCTCTAGAGGGGAAGAACAAGCCCTCACTGCAGTGGCAGAAGAGGAAGCTGAGCAGAAAGAACAAAACTGTGAAGGCTTCTTTCCTGGGATCCAGTTGTGAGTTTAGCTTTTCCCTGGATTTTCTACGACACTGGTATAGAGACTGACATTTTCCATGCCATAAGTAATTAAAGTATTCCAAAAGCTCTAAAAAGGTAACTCATAGAGACCCATGGGTCCTCAACAATGCTCCTGAACACAGACTCTAAGGAAACAAGGAGCCTGAAACCCCTTCATTAAACCAGGAAGATAGGACAGAAAAGAATCCTTCCTTCTTCCCTTCTCCTTAAACATTTCAAAGTGCTGAGCTTTGCATGTCACACAAGAAGACAGCCTAAGGCTCACTCTCGAAGGAAAGACTCATTTCTTTTCTGGCTCCCGTGGTGCTGTGGATAGTTCTCAACCTGGACAAAGGAAGGTGTTAAGTGGGCTGAGCTCTCTGCCTTCCTTTTCTCTGCAAAGAGAAGGCAAGGCCTTACTTTCTTCCTTGGATGAGAGGCAACATAAATTGATCACACAACTATTGAAGAAGAAAAAATAGTAAGAAAAAAATAACTAATTTACCTGATTTATGAAGGTCATTAACAACCTACTAGGATGTTCTGATTCAGTTGAGACAGTAAATTTTATGTGACAAAGATGACAATTGAGAAAAAGTGACTGAGAGAATGCAAATGAAGAAACATTTTGTTTTTCCCTTGCCCTCACATTACATCTTCCTTACTTCTTACTATGAAAATTCCTACCCTTTTCTATCACATATACCTGGACTCTTTTCCAGATTGAACCTAAGTCATGCTATCTTGTCCTTCATTTGGACTGATGGGCCTAACTCAGTGCTCTTGGCAGTCTTGTGGTTTGGATTTTCAATTTTCTCACTGTAGCTAATAGTCTCTTTTATAGGCTGGCCAAAGCATTCACTTTGAGATTCGATAGAATCTTCCAAATTGGAAGATAACAATATGCTTGGTGTTGGCTCCTTTAACTGAAAATGAGAAAAATCATGCAGACATTGCAAGGCTAAAGGTTGTTTATCTCCATATTATAATTTCATTCTTTCTTTTTTTTTCAGATACAGCATGACTAAGCCTGCAAATTGTAAGGGATCTCAGTGATCACCTATTCTAATGTTTCACAGAGTACACAGTATGATTCTAGACTGTACATGAAATAATTATTTTTTAACTTTAAAAATTATAAATAGGCAAACATTTATTTTTGTATGCATTACAAAAAATGTTGAATAGTACAAGAAAAGCATGATTTCAAGGATATTATTATATAGGGTGAATATACACATGGATATGGCAATAGTTGTAAGGGTTTTATGGGTGGCTAAAGCTTGGAAAGCACTGACCTACCTACATTTTTCTTTCAACAGCTGGGACAACTGAGACCCAGGAGACAAATGATTAGGTCAAGGTCATTCAGTGAATCTCTTGTAAATCTGGGGCTTAAGCCAGGATTTGGGACTCTTAATTCATTCATCGTATTCTCTTTTTTCACAAATGTGTAACATTGTTCTTTGCATACTCACATATCAACAGTTTTTTTATATTGCTAAATCATGCATTTAATTTCTATGTATTAGATATAAAATTTTAATTTGGGAAAAAACATTTAACAGGATAGTTAATGAATACAGAAAAGTGGTTTTAAAGGTAGTGCCTGTTGGGCTTGGCTGTAAAATCTGAGATTGTATATCAGCTGTCAGCCTTTCATGTCTTCAGCATGCAAAGCATGCCTGCCATTCTCTTTGGATTGTATTCCATAGTTAAGCAAGAGCAGGAAACTTTAAAGACCTAATTGAGATACCACAATGGGATCTGTTTTCGATGAAATCATATCTGTCATCCACTTATTCTGACTATTCAGTCTTTTTCTTCCATAATTTTGAAACTTATGTCCCTGCTACAATGGACCACCGTATTAGTTCATTCTCACACAGCTATAAAAAACTACCTGAGAATGGGTATTAAGAAAAGAGGTTGAATTGACTCACAGTTCCACAGGCTATATGGGAAGCATGGTTGGAAGGACTCAGGAAACTTACAGTCATGGCAGAAGGGTGAAGGGGAAGCAAGCACCTTCTCCACGTGTCGGAGTAGGAGGAAGACAGACCGCGAAGGGGGAGGTGCTACATACTTTTTAACAACCAGATCTCATGAGAACTTACTCACTATCATGAGACCAGCAAGGGGGAAATTTGCCCCATGATCCAATCACCTCCCATCAGGTCCCTCCCCCAACACTGGGGATTAAAGTTCAACATGAGATTTGGGTGGGCACACAGTGCCAAACCACATTAACCACTAACAACAGTAATCATAGCTACCGCTCATTAAGTTCTTTTTGCCAAGTGCTATTCTAAGTACTTTTTACTTATCTAAGCCTCATAAGAACCCCATAAGATAGGTCCTATTATTATATCCAATTTAAAAATCAGAAAACTGAGGCACACAGAGGTTAATCAACTTGTACAATGTTAGAGAACTAGTCAGAGAGTTTTATCCCAGGGAGTCTGCTCCAAGGTTGTTGCAGTAACCTTGTCTCAAGTCTTTTTAAGATTTCTCTATAAATTTTTATTAGCTTGTATACTGCGATAGCACTGAAAACTCATTGTAGTATGTGTATAATTGGATGATAAAACTTGTTTAAAAACAGCTTTGTTTTTCTAATCTTCATGTTGTGTATAAAAATACTGTCACACATAATTTGACAAAATCCCTTAAAGAGGATTATAGAGGGCTGGAAATTGGCAGGATAATTAAAATGAATTTTAGGCAAATTAATTTGAAAACTAGAGAAAGTAGAAAAGATGAGGTAAGGAAGTGCAATGAGAATGGTGATTCAGAATGAAGATAACAATAATAGCATTTAACAATGGTAATAATAATTGTATCAGCTACAATGAGTTGAGAACTTAATATATGCCTAACACTGTGTTACATACTTATTTGTATATTGTCTAAATTCTTAGAACAACCCTTTGAGGTATTTATCATCACTCTAATTTTACAGGTGAAGAAACAGACTCAAAGAGGTTACATTATGTGTTGCTGTGATCTAGCAAGTGATAGCAGAGTTGCGGTTTAAACTCAGGCCCAGCTGTGACATTCTATACTTTTCCATTCCTGGGAGCTCATAGAACTCAGACACCTGATATGTAATGCAATGTTTTTTGTTCTATTTTTAGCTTGAGTTATGAGTCAAGAACACACTGAATATTTTTCCTGCTTGGATGAGCCTCCATTCTCCAAGTTAGTTAGCAGGGTTAAAGAGAAGTTTGGGGGCATCTCAGCAAGAATTGCTTTCAAAAACCTCTTAAGCGGCTCCATCTCAACATTTATAGTAACACTTTAATTTTGATTTTGACTTTCTGATCCCTCAAAAGTATTCATCTACCTCTATTAATCACATTATTTATGAGAGAGATATAGGTCTGGGTATCCGTTGACCTATTCAAGAATCTAGTATTGTGGATTTGCCATTACAGAGGCATCCCAGGAGAAAATGGTCCATAGGCTACAAAGGCTCTTCTCAAAAGGGTGTTCTAAAACTGTCAAGGGCAGCCTTTATGGAATGAGTTTATAACCTTCTAGGGTGACAATTTTGAAAGCAACATACTAATTTGGATATCTGACTCATTTGGTCAAAAAAAGTCCACAAATTTAATGTACAAAACTTCATACACACACACACACACACACACACACACACACACACACACAGTCCAACTTTCCAAAAAAGCAACCCCCTTGGTTAAAAAAATTCTACCTTAGATTGGGTTGAGATCTGTCTCTGTAATTCTGAAATTCCAGCCCACATCTTCCAACATGTCCTTTCAGAACAATAAAGATCAAGTGTGTTCCCTCTTCCAGATGAAAGCCCCACACATATTTGAAGACAGTTTTCTGGTTTTCCTTGAATTGTCTCTTCATGAAGTTAATCAAATTATCCTTGAAACTTCCCTCCTCCATGAAAGACTAATAAGAGGATACTTCCTCTAGAGAGTTTTAGTGCCAGAGATAAGCACAGCCTAGTTCATTTCTACTTTAAAAAATGGGATATGTGCAATGATAAAATGCCACTCGGCCTGTTTTCTCTTTGCAAGGCAGGCTTTAGGATGATGATAAATATTTGTCTAGATTGTGCAGCTGAGCCATATGTAAATTTGCATAATGGGACTCCAGGTGATGTGCTGCATGGTAATTACTTGTTACTTGTAACTTGATAAAGCTGGAATTTAGCAACACACTTATGACTGAATGCACTGTCAACAAACCAAGAGCCCTCAGCTTGTCTCCTTGTCACCTTAAATGGTGTTAAGGAAGAGGGAAGAGGTGGTAAGAGTCAGTGGAAGACTGATTTGTTAGACTTCTCCAAGGTCACAAACAATTTCTAAGAATAGCACAAGATGTTTGTTAACAGTGCAAATGTTCTGATTTGATTGGTCCACAATTTCAGTCTTTGTCAAGACCAATTCGGCCAGACGGATGAGTGAATTAGAGGAACAATGGGTATTAAACACACATTATGTTTCATATCCTGCAGTGGTTGCATGAAAGAGGAATCCAGGCTGCAGTATTCATACTTCTTGCTCTTCTCAAGAGCATTTGTCTCCCTGGATAAACACTTCCTCTTAGGCAAAGATCCTGCACTGTCCTATAAAGATCTAAGGAAGTCAAATCAAATCAACAGATTTAACAATTCAAGTAAAAAACATTGGGTTAGGTGCTCGGAAAAAGGAAATGAGTAACACATTCCTTGCTTTTGCTTTTTTTGATAACTTTTTTTATTTTGAAATGATTGCATTGCCTTGATATAAATAATAATTACTTAAATCTAGGTGATATGGCAATTGTTGATGATGCAGTGTCAAATATAAAAATAACAGATTACAAAGATTGGTTTGTGAAGATGTGTAGTGCAGTGAGTAATAAAGCACAACTTTAGAATCTGAATTCCTACCCCCACTTGACATATTATATAACCTACCTGATCCCAGGTCTCTTATCTTGGACATAGAAATGATGATGCATAGCTCTTACACCTCATTACTAATGAGATAATGACTGTAAAATGCTTTGGAGAATGCCTGGCCCCTAGCTGAAGTTCAATAAATATCAGCTATTAATGTGATATCTGCACTGTGCTAGAACATTGTGAAATTATGAAAACAGAGTGAACTTAGAAAGGCCAGTGGAAAATACACAGTGGATTAATCAATATGAGAGGATTTGAGGGACATATCTTTTGATTTATCTTGAAAGAATGTTTGAATGACAAGAACAGATTCTAAAATAAAAACTAAAATTATTAAATGGAAATAATTTTAAGCAGAAATTGAAGACTCAGTCTCTCCTATCAGAGACCTCATAGTCTAGTGGGGGAGACACAATTGTGGGGACACACTTTAAGTATAATTATTAAATGCTAGAACAAAGCAGGGGAAGATGAACCCTGTGAGAGCAGAAAGCAAACGTTTAGAAATACTTCTTGGAGTCAGTAATGTCTGAGATGTAGATGGAGGGAGCAACAATGGTGGCATGGTCAGTAGGACAGGAAAAGAGGGCAACTATTTTGTGCAAATCCTCATGGCAGGTTCCAAAAGGTACAGATATGGATTAGTGTGATACATGTTGGTGATAAATCATGGAGGGTCTTAAACATCAAGTCAAGAAGTTAGGGCTTGGCTATTTATTCTGAGTTCATTGCCTAAATACTTTTTATATGGCATGAGAATGCATTAGATCCTGCCTTTTTCTTCCAGTGATTAGCTTTTCAGCATATTAAAAAATGGAGAGTGATAATGATATGGACAGGAGACAGGAGGGTGGGGTCCCTGGAAAGGGCTCCACCCTCAAGCCTGGACCCACAGTTCTAAATGAGAACAGGCATTCCTGTTTTTTCACCTAAATGTTGACTTTTGGCCCACTATGCCCCTCTAGCCTGTGCCCATATAACCCCTAAACCCCAGGCTCCATAAGCAGAAGAGTAGCAGAGTGGCAGAGCAGCATGGCAGAGAAGAAGAAGAGAGAAGTGTCTGAATGTTGAGAGGAGTTTGGCTGGGGGAGGTTGTGGTGGAGATCAGCCATGGGATGGCCAAATCCCAGGGGAAGATTATCTTCCTACTCCATCCCCTCTCCAGCTCCTCATCCCACTGAGAACCAGCTCCATCACTCAATAAAATCCCCGCATTCACCATCCTTCAAGTCTGTGTGACCTGATTCTTCCTGGATGCTGGACAAGAATTTGGGACACACTGGGTGTGGTAACCGAAAAAGGCTGTCACACTGACTCTTCACAGAGCTGTTTAACACTCAAGCCATCCCTGGACAGCAGGGCTAAAGGAGCACTGTAAGACCCCTAGACAGTGCTGTGGGGCTGGAGCCCAAAAGTGCTCATCCCAGCTCCTGCACCTGCTCACCTGCATACTTCCCTTCCTGTAAGGGATTTGAGCACATGGTGGCCGAATAAATGAGCCACACCATCCCATAAGGGGATCAGGGAATTCTCCCATTTCAATAATGTTTTAATTGAGATGATTTGGGCATAAAAAGACAACCAAAAATATGCCACCCAGGAATGGTAGTGTCTGAGCCACTAAAAGACATGCATTTTACCCATTTTATAGGGATTCTGGGAGTGAAAACAAGAAGCCATGATCTTCTTCAGCATCCCTTTCTACAGCATCCTCATGTGAAAATTGGCATAACTAGACAACTTTCAAACTTCTGGATAAATTTGAGAATAAATATATGGCATTTGAAAACAGAGTTAAGTTTCTACCTCCAAAACAAATCAATCTGCTTGTACTTTTTGATGTAAAAATGGATCCAGGAGCCAAGTAGAAGAAACCCTTCCTTTTGGAATGATTGACCTGGCTATGAATCCTGGCTCTGCCATCACAGTTCTGTGTTACATTAGGTGGAGTCACGGGACTCTCTGAGCCTCAGCTTCACAGACATAAAAGAGGATTGAAATAAGGCCTCCTCAACAAGGAAATTCTAGGAGACTGATGGAGAATTCCCCTGCTCCATGCTTTTAGAGATTAAGCTGGGGTCATTTACTGGGCCTGGACCCAATCTGCCTCTTTCAGGATCATGAATATTGTTTATGCAGTGAACATCACACAGGAAGATTTTTCAGTTTTCCAAAGTAATATGCTTTCTTCTCCATGAAACACACACAGGGTTCTCTTGGTTCATCTTTTATTTTTTCATTAGAAGTGCATGATACTCCATGCCTGATATTGCTTCAAACACTTTATATATATATTAACTCATTTGATAAATCACAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACTTCTGCCTACCAGGTTCAAGGCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCCCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAGCGTAAGCCACCGAGCCCAGCCAATCATAAAAAATTTTGAGTGGATTTTATCGTTACTCCCATTTTAAATATGGGGTAACTAAGGCATAGAGAGATAAAGTATCTTCTCATGATCATACAACTAGTAAATGTTTGATTTGGAGTTTAAATTTAAGCAGTCACCTCCTGAATCAATGGGCATAACCACTGTATTATATTGACTCTCTTAGATAGAGATGTGGGTTCTTTCATTTACCATAGTCAAAGCAATAGCATAAGCTCTTAGTCTAAGTGTTGGAAAGTAATAGAGAGTAAGGGAAACTGACAAACAAAAGAACGCATGACTCATCTGAAGGTGATGGCTCTACTCACATCCAGTGTCGGTTGCCATGGATGTCCTTGGACTAGTACTGCCAGCATAAATATTCTGATTTTTCAATAAAGGCCAGAGTTCAGAATTTTAAAATGTATTCTACTGATTGTTAGTTGTTTCAGACTAATTACAAAATTTTAAGAACTCAACACAAGCCATCCGTGGTTCACAGGACAATAGTTTGTGTTGTCAGTTGAGCACATTAATAGCTTCATGGTTATAAGAAAGTCTCTGAAGCCAGATTTCTAGTTCAAATGCCCACCCCATTAACAATGAGAAAGTCATTAACCTTGTTTGCCTTAGTCACCTTGTCTCTAAAATAGGCCTCATGACATAAGTGAGGATGCATCCTTCAAATTATTGGCATAAGGATTAAATGAGTTAATATTAAGATTCCCGCACAGTGTCTAGCACATGATAAGCATTATGTTAGTACTTATTATTATATCTTCTTATAATTCTGCTCCATGACATGAAATCAATCATTCACAATGAATGTAGAACTTGCATAGCTCTGGGTGGTAAGTAAAGTAGCTTTTCTTGGAAAAGAATGTTCTGTGCAGACATCAAATAACTGACATCGAAAAACTATTGATTTTATAATATTTTCCCTATTTTAACCTCAGTCTATATTCTACCTAAATTTCCATCAAGGGGGGCCCAGAAAAAATTATGAAAAAATTATTTCCTCATAAAAATAAGAACTGATTTCTCACTTTTATCTTCCCATCTTATTTGTTGTTGCTGTTTTTAATAATATTTCCTCTTGCCCCTTTTTCTGGGAATAATATGAGCAGAAGAGGAAATAACACAACCCTATAACAGCATTTACAGGGTTCCCACAGTGCACAAAGAGAAGTGCTTAATCCTATAGGGAGTAATAAGAAACTAGATGACTTTTGCTGAAAAGAAAAATTAAGGAAAAGAGAAAAAAATTGATCAGTTTTTTAATATAACAGTAATTAAACAACTCCATTAAACATCTGCCCAAGAACAATATTCTCTATAGATGGCATGAGGATGTGAATTTGAATCAGATGAGGTCCCAAGGACTTCTGCAATGTGCTAAAGGATCACTTGGGGAGATTGTTAAAATGCAAGTTCCTGAACATTACTGTAGGGGGTCTGTTAATTTAGGTCTGAGTAGGGTCCAGGTATATGTTTATGTTCATCAGAATACTAGCACTATACATGGACCACACTTTAAGAAACACTGTTCAAAAATAAGGGTTTGGGGGATTAGAAAATGGGATTACCGACTCAATAACCTCCTCTCCCCAACTGACTTTTTAACTAAAAGATTCTTGAATATTATGTATTATGAGCCCACCCCAGTTCACGGGGATGAATGTTGATTTGATTAAATCATTAGCTGTAATGCCAATCACTTGACAGGCATTGGCATGAGAAGTTACACAGGCCAGTAAGAGAACATGATGGGTGTTTAGGGAAACTTTCTCACTCTGATTGGAAACGGCAATGGACCAAACCACTGCTAATTTTTTTTCTTTGCCCCTCGATGAAGCTGTGTGGGAAGACAGTGTCTGGAGTTGGCAAAGCCATATCCTAGCATAGGCAGAGTAGCCAGTATACTAAGGATGATGGAGAGGAAAGAGGGAAGAAATGTAGGTTCTTGATGACATTGCTAATGATTAAAAATAACCTTTGAAATACCTTGCCACTGGACTTAAATACGAAAATAAGCCCTACATAATTTGAACTACTTTAAGTTAGATATCCTGCTATTTGAAACTTATAGCATCTTATGATAGTTTTATTCCAGAATGCTCTAAGGAACAGACCATAACATGTTGAACTTGTAAGTGCAGCAGATAGAATGGAAGACAGTGGCAACTGGACCACTCCAGGCTGGGAAGTTGGAGATACCCATTATGCAGGTATTTGATCCAACTGCCACTTGTTTCTTGTGATGCCGATTATATTCTGATTTGGCTCTGAGTTAGAGGAAATGAGAGGAAAAATTCAGTATATGAGGGATTTGTGACTGTTTATAGATTCCTTCATAAGATTCTGCAAGAGACACATCTCCTGAATGTGGCCCATGTGAGAACAAAGTTAAAGAAAACAAACTGCTAAGAGAGGTATTTTATACCCAGAAGCTGAAAACTGTGTTGACTGAGAATCTTTTAATTTGAAGTCTTGCAGTGTTGAAAAAGCCTTGCAGTGTTAACTGCCCCCCAAGCTAAAGCTAGTTTATGAAGCAGCAGGGAAACAGAGACTTATCAGAAGATAAAATTAAGCAGTTTGGTGCTTCGGGCCTCTTGCAAATACCCCATTATTAATTACTTCTAAATGAAAGAGAGGCAAGTCTGTCTGTGAAGACTGAATAAAGATGGGAACTTTCTCAACAAAGGCCACACCTTTCAAAGGTCTTAAGGAAGGGGCCATTAAACCAGTGGAGAGGGAGAAGGTCAGGTTTCCAAGATCAAGGGACAGACAGTGGGTAGGAAACAAGAATTTTGGAATTAGTGACCACGTCCAGTCAAAAATTTTAGCTGTGTTTAGTAACCCATGAAATTGGAAGTAAATAGACTGCATGTATGCCAAGTTTGTATGATTACTGTGTTGAAAAGAAACACTGATCCTGGCCCAGAACAGCTTATGAATTATAACCCCTGAGGCAAATTGCAGGCCTCTACACCTGAACAAATATGCAGGGGGTAGCTACTGCTGTGCCTCCTACAGGAATGCAGTCTCACATTGCTCATCTCAGATGTAGCCAGGGAGGATCAGCCAATCTGAGAGCAGAACCAGGTTTGTGGAGGAGAGGACACAAAGGGAGATCTTCCTAGAGTGCAGAACCAGGTATTCAGAGGACTGTGGACAAAAGCTATCTCCACCAGATGGCAGAACCAGGTCTACTGAGGACAGGGGACAAGGGCCATCTTCTTAAACGGCAGAACCTAGGCTTCCAGACTGGCTGTCCTGAGAGGTGACTGCACTGCCTGGGCTTAGAATCCTCATGATTCCTGTCCAGCTGGGTAGGGATGGGTATACACCAGGGCCTCTGCATTGTTTCTTATTCTATTGCTGTTCAAACGTAAGTTTTCATGGCAGTGAAAACTGCCTTGCAGTGTTAACTCCCCCACCCCGCCTCCCCCAAGCTAAAGCTAGTTTATGAAGCAGCAGGGAAACAAACTTATAAGATAAAATTAAGCAGTTTGGTGCCTTGGGCCTCTTGCAAATACCCCATTACTACTTACTTCTAAACGAAAGAGAGGCAAGTCTGTCTGTGAAGATTGAATAAAGATGGGCACTTTCTCAACAAAGGCCACACCTTTCAAAGGTCTTAAGGAAGAGGCCATTAAACCAATGGAGAGGGAGAAGGTCAGGATTCCAAGGACAAGGTACAGACAGTGGGTAGCAAACAAGAATTTTGGAATTAGCTGCTTCTGTTTCTCAGTGTATATTTGTGTGTAATTAGTAAATTATTTGTCTTATATCCATAGGGTTGTACATAGGGGATAAATGAAGAAAACACTGCATCACCCAGATGTCCAGAACTTGGAGCCAGGTGCTCCATTTAGAAAGGAAAAAAATGAGTGTCATTTAGATATAGACATGAATGGTATCTCTGAGTATCATGCAGCCAAAGAAGTAGAAGGTGATAAACCATTTCTGAATACCCAAAGTCTCTTTCCGCCTCCTACCACTGTGGACTGCCATGTTAAAAGGCTTGAATTTTCTTCTGGTATTAGGAAACCACGTGCTTCATGGAGCCTCTCCCCAGCCTGGGGGTGAGAAAATTTGATAAGTCTAAGGCAATCATGGCAAAGTCATGATCAGCAACAGTCATTGGTTTAAGTATGGGCTGTGACTACACCCTGGCCATTTAGCAAAAGAACTTTCTTAGAGATTTCTGGAACAGGTGTGCCTTCCTGTAAAAAAGGGGTGTGTGGGAAAACCCTCCCCATACCTCTGTTAGATGCTGTGAAAGAAAAGCCTCAGCTGCAGCAGTCATCTGGCGACTCCCTTGGAGTATGACATAATGACAGAGCAGAAACATGGATGAAACCTGGGTCCCAGTTGACATGGTGCAGCCTCTGAATGAGCTTGGATCTGCTTGGCACCTGACTTCTTGTGAAGTGAGATAATGAAGGCCTGGTGTTGAAACAGTTAATTGGATCCTGTTACTTGCAGCATTAAACATCCTAAATGATTGATATAGACAAGTCTTCCTTAAATACTACGTACAGGGTCTGTATAACATTCATTTAGCACTTAGGTTTTTGAGTCGAATGAGCATCTGAATTTGAGGCCAGACTCTGCCACTTAGTAGCTTAAACAAGTTGCTTCACCTCCTTACCTAAGTTTCTTGGTCTATAAAAATAAAGATAATAGAAACCTATTTGATAAGATTACCGTGAGGCATGAGATAATGTACAAGCAGTAAGCATTTAATAAATGTTAACTGCTTGTCATGATTACGGTATTGATAAACAATATTTTAGTTTTACCCTGCAGTAGAAGCTATTGTTAGTGTAGCATAACAGCACTCTGATTTGAAGCGTATTCTCCTTCATTTTAAGTAAAACAAAAATGCCACTTATTCCTGGCTTCACTGCATCAGAATTAGGCTGCTAAAGAAAAACAGAAGCAAGTTTATTTTGCTGCAGTGGAACATTTCAGCCCTTTCCTTCTTAGTAGATTCGCTGGATTAAACAAGCATAGATGCGTTCCACAATTATCCAGGTGGCTCAGTTGGAATGTGTGATTCATGCTGATCGGGTAATTGATGGTAAGCAGGAGATGTCTGAATAGGGATGCTAAATTACTTTCACCATGGGAATAGATTGTGTTGGCACTACTGTTGCTATATTTATTTAAACCACACAATCATTGTTGCCATTCTCTCTGCTCCTGGAAATTGGATGTGGCTATTTATCCAGGATGGTAATTCATACATTCATGGACCACACTGGAAATTCGAGTCCAATCAAGGACCAGTGATGAAATGAACGTACAGAATGGCCCAAGCTGAGATAGAAGGAAAGGGTAACATTCTCATAGTATACAATTTCTCAAAAATTAGATTATAAAATCACACAGTATATTTTTATGAGGAAGATTCCCATGAATTCAGTAGAAGTTAATTTGTTCAACACAGTTCTCTGACGCTGCCCTGTACCAGATGATGATGATGACATTTTATTTCAACTAGTACTTCCAGTCATGTTGCAAAAGTCAGCCTTCAACTAGCTTAGAATTGCCAGCTTCTTATCATAGACCTATATCTAATCCTGGAAATGACAAACCCAATTTCTGCTTCAATTTCTATTTCAACTATGACCCTAAGCTTAGGGGATGCATTGGAGGGTACTGTTGGTGGGAGTGGGGGAAGAAAACTGATTTTATTCACAAAAATCCCAGGGCATTACTTTGGACAAGTTGTTTAATCTTGCTGAACTATTGTTTCCTCCTTGGTAAAATGGGGATATCGGTGCCTTTACCATGGGCTTGTTGTTAGAATCAAAACGACATGAAGAAAATGAAGCTCGTGTCAGTTGATCTGTTACCACATCATGTAAAACCAGTTAGGGAGATTGTATTCAAAGATGGAGGGTATGTTCAGAAAATGTGTCCTCAATGTATAAACCATATGGAATGTGCAAAATTCACATTGACAGATCCAAGGAATTGACTTTGAAGATACAGTTTTCTTTCAAAGTAGCTAAAACAGGTACACTGAGAGGCATATGTATATAATAAATTAGCAGCCTAATCACCTGTTTCCTTCTGTCTACTCTGCTTAAACATATATATTTAAAGAAGTAAAACAGGTGACAGAAGGAAACAGGTGATTTCAAATAGGAGCCCACATTGCAAATCTCAGGGACAGATGTTCTATTTCTGAGGTTCTATTTCTGGGACACATATTCGCTTTAAAAAAACCTACGGTGAAACTTTCAAACATACACTAAAGAAGAATATAATGAAACACCATATATACATAATCCAAATTCAACAATGATAAAGATAAAAATTGTGCCATATTTGCTTCATCTTTCCTCTTCTGTAGTTTTTTGTAAAGCCCAAATCTCATTTTTTTTTACACTTAAATATTTAGAATACATCTCTAAAAACAGGGCCATATTCTTGTTTAACCATGATGCCCTTATCACATTTAACAAAACATAATCAACAAAAATTTTTTGTGTAATTATTGCCTAGTCAGGATCCAGATTTACCTGATTTTGTCAACTGTGAGCTTTTATGATTGATTATTCCAATTAGGGGAAAAATAACCCACATATCATTTGGTTGTTATGGTTTAAATTTCCTCCCATCACCTCTTTTGTTTCATGCTGTTGTCTTATTGAAGAACCAGATTTATTTTCCTGGATATTGTCCCATAACTTGGATTTGTCTGTTTCTTTGGAGTGTCATTTAATTTGTTCCTTTAGCCCCATATTTCCTAGAAATTGAAAGTTAGCTCTAATAAGGTTCAGATTCAACTATGTTTGGCAAGAATATTTCACAGGTGGTTCTGTGTACTTCATGTTATATCATATCAGGAAGCACACCATGTTTGAATGTCCCATAGCAGCATTTTGTGCAGATACCATGCTTATTCAACTAGTCCTCTATCGGTAGATGTTTATGGGTTTTTTCCAATTGTTTATCACAAATAATGCCACAATGAATAGCCTTGTGCATAAGATGTATTTTGCTCACAGTGCATCTTTTATACGATTTCTGAGGAAAGAGATTGTTACTTCTTTGATGCTCATTTATATTTTTTTTCCATGGCTGCTTAGAAGTTTTTTCTATTTTTGTTTCAGCAATTTTACCATGATATGCCTTGATGTGTTTAATTTGCTTGTGTTCATACTGCTCGGGGATAGAAATGCTTCTTGAATTTGTGATTTGATGGCATTTGTTGGTTTGGAAAATTGTCCATATCACATATTCAAGTATTACTATGCTCATTCTATCCTATCTGGATCTCTAATTACCTTTATGTTTGACCTCACTGTATCCCCTATATCTCTTATGCTCTTTTTTTTGCGTTTTCATTCATCGATTTCTCTGTGCTTCATTCAGGATACTTACATCTGACCCACATTCTAGTTCATTAAATCTCTATTCAACCATGTCTAATATACTTTTAAATCCACCCACTGTGTTTTTAATTTGTTATTGCATTTTTTTAGTTTAAAAATTTCCAATGAATATTTTTTAATAATCTCTGGTTTGCTGTCCCAATTCTTAATTTTTCTCTCATTTCCTTGAATAGATTAAGGATAGTTGTTTTAAAATGATGCTCAATAACTCTAAAATTTGGAGTTCCTGATGTGTTTCTGCTACTTATTATCCTGGATTTTATTTACAATATCTTTTCTCTGTGTGATTTGTTATTTGATAGAGTGCTATTCATTTTCCATGGAAAAATAGAGACATATTTTGAGATTCTGGGTGACAACATTGTATTAGTCCATTTTCACACTGCTATGAAGATACTACCTGAGACTGGGCAATTTATAAACAATAGAGGTTTAATTGACTCATAATTCCACATGTCTGGGGAGGCCTCAGGAAACTTACAATCTTGGCAGGAGGGGAAGTGGAAGCAGGCGTCTCCTTCACACGGCTGTGGGGGAAGAGAGAGCGAGCGAGAGCGAGAGAGAGTGAGCGAGCATGCGAGTGAGCGTGCAAGCAAAGGAAGAACTGCCAAACACTTAAAGCCACCAGCTCTCATGAGAACTGACTCAATGTCACAAGAACAGCATGGCGGAAACTGTCCCTGTGATCCAGTCACCTCCCACCAAGTCCCTCCTTTGACACGTGAGGATTACAATTTGAGATGAGATTTGGGTGGGAATACAGAGCCAAACCATATCAACCATCTTTCTCTATGTGGGATGTACATTTCCTTTGGTCAGGTAACTAGGGGTAGGTGTAAACTTGGATCACCTTAATATAACCTCAGGGCTCTGAGATGATTCAAAACCAGGTTTCAGTCACAACAGAGATTTATGTTTTTTTCTTACTCTGAGGTAAAGCCCTTCTGGTCTAAACCTAAATCCTGAAGAGTTTACCAGAATCCTTTCTACCTGGTGGACTGGGACTCCAAATTTACCACATGCCCCCTTGGGCCATTGTAAGTACTACTATGTTTTTCAGTCTCTCAGCTACTTCCCATGGAACTGACAGCACCCTCAATTGTAGGGCTTCCTTCTCCACATTTCCTTCTCTTCCCTAACCTTGCTACTGTCATTTTTGTCTGCTTTGCTATTCTCACTGTGCCAAAAATTTAAAAACATTTTCTCCATATATTTCAGTTGTTCTTGGTGGCAGGATTGGTCTAGCCTGCCATTAAGGAAAGCAGATGTGCTCTGACTTTTAAAAAAGAAAATACTCTAATTTGTGAAATTCTAACTGTAGTTTTGATATTCATTTCTTAAAGTTTTGATTTTTTATATCTGCCATCCCTACAGTGAAATTGCCCACTTCTCAAAGAAGTCTCCTGGAAGACTTTCTCATCAGTTCTAAGTGGCTGTGTGAGTTAAAAGCATTGCTGTTTCGCTGAGGAGAAGTTGGTTGGAAGTCCTTTGTAGGTCTGTATTTGAAGACACATTTTAAGAATCTAGTGCCAAGCTACACACGTAAAATTTTTCTACCACTGTAAATGAAGCGTCTCATAATTAACTTATTGAAATTTTCTTCTATTTTAAATAAACGCAGATGAACCTGTCACTGTGACATACTTGATTAGTAGCTTTGTGAAGCTTTAAAAATTCTCATACATACCAAAGTTCCTCCAAAGAACATACCCATTACATTACCTGTACATCTGTGAATGGAACCATGCCCTACCTTACTTTATTAGGTATTCTGTAATTGCGGAGGTAGCCAATTTTTCTACTTCTGTGTTATGTCTAAGCTAATTATTGTTTTTATGCTTGAGAAATATTGTCTGGGGCCATGCATTCATTCAACACAAGAGAATGAAATTGCTCAAGGCAAAGAGTAGAGAAATGCTAAGCCCATCAGACTGTATCCTGGCAAGGCTGTGGCTGGAGTTGGCTTCCAAGGTTGGATTGTTAACCTAAGCATTCCCACTGTCTCCCTTCTGTGCTCTGCATTCTTGATCTCTCTCTTTCTTTTAACGTCCATTAATGTCTAGTGAAGATTTTATGTCTTAGAATAAGAATGGCATAAACTCCCAACTCTACTTCCAGCCAATTGAAGATGGCATTGACTGAATCAATTGTGAAGACTATGATGCCCCAAAGAGCAGAGCATGATATCTCATCAATGGTTCATCTGCTTATACAGAGCTCTGTTGATATGCACCCTGTTTCCCTTTGAACAGAGGAAAAAAGACTTGGAGAAAGTAGGCAGGCTGGGAGAAAAGGCATCAGTGGGGCAATCTGCTCACCCTCTTACCATTTTGTGTGTAATAGGGTACCTGGAGAAGCAGCTTTTTGCCAATAGCCCATCCAAGAGATCTGACCTCGGGGCAAGAAGACTCCAAGAGCCAAAAGCTGATGATTGCGCTCTAGTGGTATTAAGAGGGAATTAGGAGGTTTGGAAGAGGTTATGTTGAAATCAACTCTTCCACTTCTCTCTATATAGCAGGGAGGTCAGCTGAAGGGACTCTTCTTCCATATATATGCCTTCTCCAGTCATGCCATTGGGTTGCCTGCCACCTAGAGGACATCAATGGCCAGTGCAGGAGAGAAAAGATTCCTTTCTCACTTATCACTAGATTCATGGCAAGAGAAACAAGATAAAAGCATAAAAAATTCATTTCATATAAATTTTATGTGACATGGAAGCCTTCAGAATTGAAGACCCCCCAAAACAAGGAAGCCTATGTATTTGTGATAGTCATCCAGAAGTATGATTGGAAAACAGAAGATTATGACTTAATGATAATAAACTGGGAAGAACTTAGTAATGCATGATTTCTTTTTCAGACGCTTTTTGGCATTTCTGTATATTAATTCATTTCCTCCAGGTATAGGGAAGATCACTCTGGAATGGGAGTTTTATGATATACTTTAGAGGAAGGTCAGATAATTATTTTATGGTCTAGAACAGGGGAGAACAGCAGGAAAAAGTCAGCAAGACCTTCCTGTTTCTGCTGTTTTCTCAAATATCAAGGTGCCAAATTGTAAGGTAGTGTGTCCTAAACCCTATCACCAGTCAGTGTGAACATAGAGGACAATATCAGTATCTTGTGAAATAATGAACACATGCTCTTTTTTTCCTCATCTTTAAAATTTTGTATGAGACCAGAAAGGAGCCAAGTAAGGATGTTTTTTTAAAAGTCTTTGCTCGTGCTAATGAGCGGCTAGGGTTGAGAACTTCCAAAATTCTATAAAAAGGGGTAAAAGAAGTATTCCAGAAGCAGACTAAAATCTTTCCTGTACTTCAAGGTAGAGGTGAACAGGGAGAAATAAAGAACCATGCCATGTCCCTTCACCAAATCAGGTCCCTCAAACCACAGGTCTGGCCAAGTCAGGGAATGTTTTAATCAGTCATATTTTAAATTGAACCTAAAATAACTTGGAAGTCAATGTTTTCCGCACAAGGTATTATTGGGAGATCTACCACCAAGTCAGGAAGAGGGATTCGACACAGTACTAGTGGGGACACTGATTAGAGAAAAACGTAATAGCTTTATGTTTGAATACCTCTGAGAGCAAACCAGATATGGTAACCTAACCTCTAGCACAGAGGAAAATTCCATAATGAAATGCTGACAAATTTTAATAGCTCAACTTGGGGAGCTTTATATGTTGTTTCCTCTGGAGTACCTTTCTCTCATCCCTGAAATATAAACTAATGAGTAACAGGAAAAAAAAATTCAGGGACCTTCATACATTTTGCTTTGGGCATAATCTCTATAATGGGATTTAGTAAGATCTAATGATGTCAGATACCTTCTAAGAATGGGGTTCATTAACTTTGCTGGAAGCCTTCCTTCATTTCCCAATGCCTCCTTTTACATTTGTAAAATAATTTGTACATCATCTGCCTTCCCTGTTCCACTACCATTTTTCTTTGGTTTTTGCATTCAGGTGAGGTACTTACAGTTCACAAATGTCTTTCTCAAGACAGGATAAGAACAAAACATTAGCTCCCAGAGATTCCTTTATCAGCAGAAAACTTGGCACCCTTTGTCTAAAGAAAGCCTATCTTCTAGATGAGAGATATGTAATTATTCTTGCTCTAAATCCTTCACTCTTCTAAGATTACTTCTTAAACCTCAACTGTCTCAGCATGGTTATGCATATTCACAATGGACTTTATAACCACTTGGGAATTTAAATTTCCTTTGCTAAGCCTCAATTTTTGTAAGCAGATCCTCAGCTTTTACATCATTGCCAGGTTCTGTCTAAGGGTAATACTTCATTTTAATAAATTTTAATTGCTACATTAATCCAGTTCATTATCCATGTGAATTGCCATTTACTGCTCTTTTAAAAATCTTTCCATCGGACTTTGTGTACACAGCCTGTACACAAAGGCAGCTGCTGAATTTGTTCAGATTATTACCATTTGGGATGTGCCATCCACCTTTTGTTCCCAAATTAATTAGGGAAGATGAAACTGCTACTTCACAATTGACAGAACTGGCGTCTATGCAGGAGATGCCTTTACAGAAAGTAGATCATTTACTCCCAGAATCGCCAATCTAACGCAACGTCCTGTGTTTTCCAGGTCTGGTAGCGATCAATTATTCAAAGCCAATTGTTTATAGGGGATTATAGATCAACTCTTGATGATATTGCTCACACTATAAATTCTCTTTCTCCTCTGTATAGTAACTTTACAGACACTGGAGATGGGGAATGTCAGGCAATTCTACCTGATTTGAAACATCCAAACTAAAAGCAGCTACACATCTGCCTACTGAAGGGGATGGCAAATTTGTCCACTGAAAGTCATTAAGGACAACCAGATCTCTGAATGGGATTGTAAATTGCATTTTGGACAGCAATCCTTATGAGAATGAGAATATTCTGTTTAATGAAATTGATTAAAAATAAAGGTATCCAGAAATAAAATAATGGAGAATAATAAAAGCTCCAGAGTAACAATTTTTTTCTTGAGTCATGTTTAAGGGATAGCCTTAATCAGAAACAATCAGAATCAGTGTTCAGAGAGCATTTTTCTCTTTAAAGACCAATAACCTCCTTAACCATCACAGTACTCTATTATCACTCAGGGTTTTAATAAGATGTCAGAGGATTCTAACCATGGTTCCTTAAGTTACTATGGCTAGCTCTTAAAATGTGTATGAAAATGTCATTTTATTGGCTCATAGCTTAGTTATAGAGATGAAATGCTAATCTCCTTTTCTCTTTCCTTCTCCTATTAAAAAAAAAATCAGATCCAACCATGGGGGCTTGATGGATTATAATAGAAGGAGGACTGTAAGCCTGTGGAGGACAAGAAACAATACAAAAAGCAGGATAAGGCTATTGAAAAGAAAACAACTATTTTCCCATTTTTATTACATTGACTGTATCCTTCTAAAATCGAAAGCTTTCTTGATGGAGAAGCACTAATACATGATGATTCTAAAACTTTCACCCAGCCCCTGAGGAGGCAGCCTAAAGCTCAGCTGGTAATGTATGATCCTCTTTCATTTTTTCTTTACATTTTTTATCACGATTGACTTTCTTTCTCCTTTTCTCTTTCTGGTTGTAATATATTGTGCAATATCATCACCTAGCAATAAAGAACACCAAAGAAATCTAAGTGTTATGTAACTGGCTGGTTGGTTGGCATTATGTTGCCAGAGCTCAGCTCATTGTTACATATGGTAGAAGTTACATACATTTTATCTGCAAAAGACATGAAAGGGGGACACTCAGTTTTTAATAAGTGCCGGGAACCCTGGGAAATGCATCAGCACTTGAAAACTGGGTAATAGCAAGAAAAGGCTTTGGACCAAAAAAGCAAAAACTCTTCACGGTGGTCTCATTCCAGGAGAAATGACTAATAGCTTGTTATTTACTATCTATTTGGAATGACAAAAAGTTTTTCCCTCTTTTCTCTGTCCAGGCAGTTGGTCATGGCTGTCTGAGTGCTGCTTTAAGAAAGGTGTTTGGGGAGGCCAGGGCTTAGCAAGGAATACTATCATAATTGGTTAGTGATGTTTGTGATTGGCATCTGAAGAGAAGGAAGAAGTGTGTGTCAAGTGACTGCTACTAATAGATATCATGGCCTTAGCTTTCTTTCGTTTACCCATTCATCAACTTTATAATTCTTAGTCCTAGCCCCTCCTGAGAGCAAAATGAATCCCTTATGTGTCTTAAGTCTCCCTGAAGCTCTACAAAGCATAAACATCCCAGATACTGCAAAGGGAATATTCTAGAACATTGATAAGACTTGGAAGGCAGACCTAGGTTGAAAATCTTTTGGACATATGTAAACAGCTCATGGGAACAGTACAACTGTAAAACTTGGGAGATGCACTAAAATGTAAAGAACAGAACCAAAAAGGATAGGGTATAGAAAAATGAGTATAGATGTTGGAAAGAAGTGAAGAATTTTGCTTAGGGTTGATGCTAATAAACATGGAAAGGAGGAGAAAAAAAATAAGGAAAAAATTCCATGTTAAGTCTATTCTTTTTATGAGAACAAGAATAACAAATGTCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATTGAGACTATCCTGGCTAACACGGTGAAATGCCATCTCTACTAAAAATACAAAAAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATGGAGTGAATCTGGGAGGCGGAGCTTGCAGTGAGTGGAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGATTAACAAATAAGTGGACATATGTGAAAAAGGGTTGGTTTATTAAAAATTCACAGTGCAGTGTCAGAAAATGAAATTACATTAGGTTAGAGGCAAAGCACATTTCTAATTGGATTCTGTCCACATCAAATGTCATCTAAACCTTAAGGGTTATTTATTAAATTCCTGACAGCTTGCATGTATCACATTGTTCTATTATTACTCTAGAAGATGATAAAACTCTGGAAGTTTCTAATATTAAAACAAATCAATTTTCATAGTTTTTAAATCCTAGAAATCTCAGAATTTGTTTTCCTCTCATATAGTATTAGTTTATACTTTTTATATCTATATCTATTTGATTATCTATACGAAGAGTAAGACCACTGTAGAAGAAAATAATGTGTTTAATAACAACCATTATTTGTCCAAACTGTACTCAATTGGTTTTGAATAAAAAATAAGCTCTAATGCCTTAAGGTGACCATTATATGTAGTACAATGCACCTTGAATGACACTCTTTCTGCTTATCTTTGCTAACAACAAACCACTTGAAAACTTAGTAGCTTAAGACAGGAACATGTATTTCATCCATGAGTTTGCATTTGGCTAGTGCTCAGTAGAAACAACTTGTTCCTGCTCTACTCAGTCAGCTAGGGTGGCTCCAAGGGTGGAGGATAGAATAATCTTAAAGCCTCACTAGCTACTGGCGCTATGGCCAGATACATACACATGATTTTTTCATGGCTCCCTCACAGCATGGTGATTGAGTTCTAAGGGCAAACTTCCATGAGGCCCAGGAAGTGAACTGGAGAATGTTGAAGAATTTTTTAACGACTTAGCCTTGGGAGATCACATAGCATCACTTCTGCTGTAGACACAGAGCCGCCCAGATTCAAATGGAGGGAATGTAATCCCCATCTCTCAGTGGAGGAATGACAATGTCACATTGAAAGAAAAGCTAGTTGTGTGGGATATATAGGTACCTCTATCTTTAGAAAATAAAATATGCTATAGTACTAATTATGTACCACCTTTGGGAAGATGGATAAAATAATCACTCAATTTTTTATTTTATTTTATTTTATGGCTCATACGAGGAATCCAAACTGAGAAAGGCTAAACCAAGTGATTTGGATATTGGCTAAAAGTGATAACACAATGCCTAACACTTAGCAGGGACTCAATAAATTCTTCTCCTCCCAGTTAATAAAGTCCTATCATTTCTATGGTCTTACCAAGGATTTTGTGAAACCAAAGAACTGAAATTAAATTTTAGTTATGTTTTAGACCTACATTAATTTCCTCAAAAATCTTTTTTAATGTGCTAACGTTATTATGTCTGGGAAATAGTTCATTTATCATAGAATCTGACCTTATGGAATATGAAGTAGCATGGAGACATTGGCTTGTGTTTTACAACTGAAAAATCGAATTGTCTCTTGGTGGATTAAGGCATAAGGCATTAGTTGGGAGATAATAGGGGAGAAACAGCTGCATAGTAATTTTAAAAAACCTAACATTTCCAAGTTCTCATAGTTTATCAAGATGATATAACTGAATCTATATGGTGTTTATAGTCAAAATTGCCTGGATTCAAAACTTGACTGGCATTTTGTAGTTATGACATTAAAAATAATCACAATAATAGTAATAATAGTTAACATTTATAGAGTGTTCATTCCTAGCTAGATATTTTGCTAAGAACCTTGCATGTAAAATCTAATTTATTTCTTTTAGTAATTCTAAGGTAGAAACTATGGTTATTCTCACTTATAGATGTTACATAGTAATGGAATTGGTATTTGAACCTATTCTGTTTCATACAAACTTACCTGCCATGCAAGTTCCTCAAATTTCTTGAGTGTCCTTATCTATACAATAAGGATATCATTATTAAAGAAATATAAATGAGATCATGTATATGAAAATTATAGTACATAGTAAACACTTTATTGTTAATTTTATTTTCTCTTTAGGGACAAAGGAGTCAGTCATAGCCTGGGTGGCCTAGGTACTAACTCTAGCTACTTAATTTATGTTTGTGTCTTTTATAGTTATAGATAGCCAGGGTTGAGAGAGGACTTAGATATCACTTTTTACCACCTGTTTTGAAGCTGAAGAAACCTGAGGTTTGGATGGTCAAATGAATTAACCAGAGTCATAGAGCTAGCACATGGCAGAGCTGAGATCTAACTCTAACACTAGTGCTCTGGTAGTATATAATGCTGCCCTCTCATTTCTTTGACAAGTAATTATATTGTAAGAACACAAAAAAAAGCTAATAAAACATGAAACTTGCCAATACTTTGTTTTATATTGATGTTTTTATAATTAAATTTAGTGTTTTATTAAATGCTTATTAGTAATGCATATTTATAAATATTTCCAAATGCCTAAAACTGAAATTTCATGCCATCCTCAATGATTGTCAAGTTACTAGGCAGTAACTCACCCCGCTAGGGTTAATTATTACACCTAGTAACATTCATGCTGAAAACTCCTGCTTAGACTAATTACTCTCATAAATCTCTTTAGAGAAGTGTAAAATTCTCATTACTTAAATGATAAAACAACTAATCTACTAATCTTTGCTCCTTGTCCCTTCGAGATAATAAGATTGCCAAGACTGCTAGAGTTGAAGGATGTTTTAAGGTAATTAAAAATGTTGAAAGAACCGAGGGCCTAAAGAGCTCACAATGATGTCTGGAAACTGAGGGAGAGCAGAAATTGTAGAATAAAAAGGAATGTGGAAAGTTCACCCTTAAATTTATAAAGGGATTCTTTTCCATTTTAACCTGATTTTTAAACTTTTATTGCGGAAGGAGGTCCTTGAATATGTGGTTAAATTTGCTATCATCTAAAACTACATTAAATGCTTAAATTTTTCATTCATTTATTTACTTATTCAACAAGTACACATTGAAACTGAAGATAAAACTATCAACAGGACATCATCATTCACCTCATAGAGCTTGCAGTCCAGTAGTTACGGGTAAGTAAACAATTCAAATATTGTATGACTTGAAAGGCTTTTTTAAGGTGGTGTGACTCCATTTCACTGTAGCATTTTTTAGCCACTGCCACTGCTGGTGACTCACAAGTACCACATGGCTTAGCAGAATCACCCAGCTCCAAAAAATCAGTTATTAACGTTTGGTACATCCCAAGTATCTATTTGTTCATTGAAACGACCATTTCAGAGGTACATCAGTCTGGGTCCAAGCAGGAGAGAGAAACCACACTTGTTATTAGAACAAAGAATGGATCTGGGCAACATAGTAAGACCCCGTCTCTACAAAAAGTTAAAAAAAATTTAGCTGCACATGGTGGCATGCACTTGTAGTGCTAGCTACTCCAGAGGCTGAGATGGGAGGATCTCTTGAGCTCAGGAGTTCCATGTGGCAGTGAACTATGATTGTACCACTGTACTCTCTCAGCCTGGTTTGGCAGAGAGAGAGAGAGAGAGAGAGACCCTGTCTCAAAGAAAAAAAAAGAAAAAGAAAAAGAAAAAAAGAAAAGGAATGCCCTAAGTAGGTTGTAAGTAAGTTGTCAATACGTAACTAAAGTGGTGAAAAGTTAGGTGCTATAGAGTTGGCTACTGCAGGAAGCAGCTATGCTACCACCCCTGGGGCTGAAAGAACACAGGTAACAGGTTAGAACTATGAACACTTTCAAACTTGAAGGAGGGACCCTGTGGGGTCCCAGATCTCCAAAGAGAGGGTATGGCTTTGTTGGTACTGGAGGTTTTGTGGGGAGGCATGATGAAGCTGGTTCTGTAAGTGTTGGAAAAAGGAAACACCAATTCAGTTATTACTAGGAACTGTTGCTGCTGAGATGAAGAACATTCCTGAGGTGTTACTCACAGTAATGGGAAGACCACAGGAAACCAGGAGCACACAGAAAAGAACATGTTCTCTTTCCTTCTCCAGCCTTGCAGTCCTCCCCAGTCCCCCTACTGGCAGAGTCTAACAGGACTAGCTGGCAAAACAGAAATGTGGTTTTCTGAGTCCCAGCCCTCATTGTGAAGCAAAGTAGTAGTCTTGAATGAGTTTGGAACCAAAAGGTGATGATTTAATAACTAAGGCAAATGGGAAGCCAACAGAGTGGGCCCTGGACTCTGCTATCCTCAAAACCTCTTATCCAATGCCTGAGAAATACACCTTAAACTCCCTTCTGTGTAGTTCTGTGAGGATGAGTTCCCCTCCTACGTGGGGAAAAAGGCCACTAACAGGGAATCTATGTGAACATGTTTATCCTCTAGCCTTCATTATTCCCTCTCTGTTATGCAATAATACACACAATTATCTTAATATCTACAGATGCATTTAAGATATCCTTCCTTTCTGGCCTCTTGGCCAATATCTCTTCATGGAAAAATTGTATAATATTTGGAGATGTTTCCAGACTCTACTGACTCCTTTGGTTTTGCCAACAGCATGGTAAGAGTTATTGTAGGTGATATGGTTTGAATCTGTGTCCCTGCCCAAATCTAAAGTTTAACTGTCATCCCCAATGTTGGAGGTGGAGCCTGATGGGAAGTGATTGGATCATGGGGGCAGAGTTCTCACGAATGGTGTAGCACTATCCCCTTGGTGCTGTTCTTATGATAGTGAGTGAGTTATCATAAGATCTCATTGTTTTAAAAGTGTGTAGCATCTCCCCTCGCCTTTCTCTTGCTCCAGCCATGTGAAGTGCTTGCTCCCTCTTCACCTTCTGCCATGATTGAAAGTTCCCTGAGGCCTCACCAGATGCTGATACTGCCAGGCTTCCTGTACAGCCTGTGGAACCATAATCCAATTAAACATCTTTACTTTATAAATTACCCAGTCTCAGGTATTTATTTATAGGAATGTGAGAATGGACTAATACAGTAGGGATACATAGTACCTTTCCTTTCTACTAAGGGAGCCTCCAAAATGACTTTTTGCACAGTATTGAGTAAGAAATTGGTCAGCTGCTGGCTGTTTTCTTTGGGAGAGATACAGTTCTGGGAATTAACTGGGATAGCTAAGAATGTAATTTTTAGAAGGAAGGATGAAAATAATGAATTAGGCTCAGAGAATGGCATAGAATGGTTCTTTAGGGGAAAATACAGACATTGTAGAGCAATGGTTTGCATTCATCTTTTTAAACTTTTATTTTTAATACTAAAATGTTGGTGGGTACACTCAAGAGATCAAAATATTAAAGTACTCCAATACCACACATCAATAATCACAACTCTACAACTTCATAGCAGTGTTTCAAAATGTTTACAAAAGCATTTATAGTAAACCCGCTAGTTATGAATTGGCCCTTCAGCATCATGTAACTATTTAGGTAAAATTATTTACTGCCTTGAGCACACTCTATTATATTTTCCTGTATACTTCAGATAACTCGCCGCCTTCCCTTGGTGCCAGCTGGCTGCTATGCCACACTTCTAATCTAGTCATGTTAGGTTGTACCTTGCTTTACCTGCATTGCAGGTGGCATTCAGGCTAATGCTCCAGCTCACAGGCATCACCATTAGAGTTGTTTCCAAACATAAGACAGAGTCCAAGATGGCCGAATGGGAACAGCTCTGGTCCGCAGCTCCTAGCGAGATTGACACAGAAGACGGGTGATTTCTGCATTTCCAACTGAGGTACCTGGTTTATCTCATTGGGACTGGTTGGACAGTGGGTGAAACTCACAGAGGCCAAGCCAAAGCAGGGCAGGGTGTAGTCTCACCCAGGAAGTGCAAGGGGTCAGGGTATTTCCTGTTCCTAGACAAGGGAAGCCATGACAAAATATACGTGGAGGAATGGTACACCTCTGCCCAAATACTGCCAAATACTGCACTTTTCCCACAGTCTTAGCAACTGGCTAAGTGCTGTGGTTTTCAGCTCCATCAGTTCATTTAACAACCTCTCTACACTGTTTATTCTAGTTAGCCATTCGTCTAACCTTTTTTCAAGGTTTTCAAGGTTTTCAAGGTTTTTTGCCACGTGCCTGGCTCAGTGAGTCCCATGCCCACAGAGCCTTGCTCACTGCTAGCGCAGCAGTCTGAGACTGACCTGTGAGGCTGCAGCCTGGTGCAGGGAGGGGTATCCTCCACTGCTGAGGCTTGAGTAGGTAAACAAAGTGGCCAGGAAGCTCGAACTGGGTGGAGCCCACTACAGCTCAGCAAGGCCTACTGCCTGTATAGACTCCACCTCTGAGGGCAGGGCATCACTGAACAAAAGCAGCAGACAACTTCTGCAGACTTAAATGTTGCTGTCTGACAGCTCTGAAGAGAACAGTGGTTCTCCCAGCATGGTGTTCAAGCTCTGAGAATGGACAGACTGCCTCCTCAAGTAGGTCCCTGACCCCTGTGTGGCCTGACTGGGAGACACCTCCCAGTAGGGGGCGATAGACACCTCATACAGTCGGGTGCCCCTCTGGGATGAAGCTTCTAGAGGAAGGGTCAGGCAGCAATATTTGCTATTCTGTAATATTTGCTGTTCTGCAGCCTCCGCTGGTGATACCCAGGCAAACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAACAGAACTGCAGCTGAGGGGCCTGACTGTTAGAAGGAAAACTAACAAACAGAAAGGAATAGCATCAACAGCAACCAAAAAGGACATCCACACCAAACCCCCATCTGTAGGTCACCAAAATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGGGAGAAACCAGAGCAGAAAAGCTGAAAATTCCAAAAAACCAGAATGCCTCTTCTCCTCCAAAAGATCGCAGTTCCTCGCTGGCAATGGAACAAAACTGGACAGAGAATGAGTTTGACGAGTTGACAAAAGTAGGCTTCAGAAGATCAGTAATAACAAACGTCTCCGAGCTAAAGGAGCATGTTCTAACCCATTGCAAGGAAGCAAAAAACCTTGAAAAAAGGTTAGACGAATGGCTAACTAGAATAAACAGTGTAGAGAGGTTGTTAAATGAACTGATGGAGCGGAAAACCATAGCACGAGAACTACATGATGCATGTACAAGCTTCAGTAGCCAATTCGATCAAGTGGAAGAAAGGATATCAGCAACTGAAGATCAAATTAATGAAATAAAGCAAGAAGACGAGATTAGAGAAAAAAAGGGTGAAAAGAAATGAACAAAGCCTCTAAAAAATATGGGACTATGAAAAGACCAAATCTACATTTGATTGGTGTACCTAAAAGTGGCAGGGAGAATGGAACCAAGTTAGAAAACACTATTCAGGATATTATCCAGGAGAACTTCCCCAACCTAACAAAGCAGGCCAACATTCAAATTCAGGAAATACATAGAACACCACAAAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAAAATGTTAAGGGTAGCCAGAGAGAAAGGTCTGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCTGATTTCTCAGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGTCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATTCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAGACAAGCAAATGCTGAGAGATTTTATCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAACAACCAGTACTAGCCACTGTAAAAACATACCAAATTGTAAAGACCATTGATGCTATGAAGAAACTGCATCAACTAACTGGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACCTTAAATGTAAATGGTCTAAATGCCCCAATTAAAAGACAGACTGGCGAATTGGATAGAGTCACAACCCATCAGTTTGCTGTATTCAGGAGACCTATCTCATGTGCAGAGACACACACGGGCTCAAAATAAATGGATGGAGGAAGATCTATCAAGCAAATGGAAAGCAAAAAAAAGCAGGGGTTGCAATCCTAGACTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACCAAGAAGGGCATTACATAATGGTAAAGGGATCAACTCAACAAGAACAACTAACTATCCTAAATCCATATGCACCCAATACAGGAGCACCCAGATTTATAAAGCAAGTCCTTAGAGACCTATAAAGAGACTTAGACTCCCACACAATAATGGGAGACTTTAACACACCACTGTCAATATTAGACAGATCAATGAGACAGAAGGATAACAAGGATATCCAGGACTTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCAAAATCAACAGAATACACATTCTTCTCAGAACCACATCATGCTTATTCTAAAATTGACCACGTAATTAAAAGTAAAACACTCCTCAACAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAATTTAGAACTCAAGATTAAGAAACTCACTCAAAACTGCTCAACTACATGAACACTGAACAACCTGCTTCTGAATGACTACTGGGTAAATAACAAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATAAGAACAAAGACACAACGTACCAGAATCTCTGGGACACATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAGAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAACAGAAGGCAAGAAATAACTAAGATCAGAGAATAACTGAAGGAGATAGAGACACAAAATACCCTTCAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAGAGATCAACAAAATAGATAAACCGCTGGCCAGACTAATAAAGAAGAAAAGAGAGAATAATCAAACAGACACAGTAAAAAATGATAAAGGGGATATCACCACCAATCCCACAGAAACACAGACTACCATCAGAGAATATTATAAATGCCTCTATGGAAATAAACTACAAAATCTAGAAGAAGTGGATAAATTCCTGGACACATATACCTTCCCAAGACTAAACCAGGAAGAAGTTGAATTGCTGAATAGACCAATAACAGGCTCTGAAATTGAGGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCAGATGGATTCACTGCCACATTCTACCAGAGGTACAAAGAGGAGCTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAATTCATTTTATGAGGTATCCTGATACCAAAGCGTGGCAGAGACACAACAAAAAAAGAGGATTTTAGACAATATCCGTGATGAACATTGATGCAAAATCCTCAATTAAATACTGGCAAACCAAATTCAGCAGCACATCAAAAAGCTTATCCACCACGATCAAATCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATAAACAGAGCCAGTGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTGGTCAAAATTCAGCAGTGCTTCATGCTAAAAACTCTCAGTAAACTAGGTATTGATAGAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCACTCCCTTTGAAAACTGGCACAAGAAAAGGATGCCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGACGTTCTGGCCAGGGAAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATTACTGTATATTTAGAAAACCCCATTGTCTCAGCCCAAAATCCCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAGAAATCAGAAGAATTCCTGTACACAAAAAACAGACAGAGAACCAAATCATGAGTGAACTCCCATTCACAATTGTTACAAAGAGAATAAAATACCTAGGAATCCAGCTTACAAGGGATGTGAAGGACCTCTTCAAGGGGAACTACAAACCACTGCTCAATGAAATAAAAGAGAACACAAACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTTAATGCCATCCCCATCAAGCTACCAATGCCTTTCTTCACAGAACTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAACTGGCTAGTCATATGTAGAAAGCTGAAACTGGATCCTTTCTTTACACCTTATACAAAAATTAACTCAAGATGGATTAAAGACTTAAATTATAAGACCTAAAACCATAAAAACCCTGGCAATACCATTCAGGACATAGACATTGGCAAGGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATAGGATCAATGAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCATAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAATGGCTAATATCCAGAATCCACAAAGAACTTCAATTTACGAGAAAAAAAAAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGTCAAAAGACACATGAAAAAATGGTCATCATCACTGGTGATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAAGGAAACAACAGATGCTGGAGAGGATGTGGAGAAATAGGAATGCTTTTACAATGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCCAGAATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATACATCTAAAGGATAATAAATCATACTACTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTACATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCGTGGAATACTATGCCACCATAAAAAAGGATGAGTCCATGTCCTTTGCAGGGACATGGATGACGCTGGAAACCATCATTCTGAGCAAATTATCATAAGGACAGAAAACCAAACACCACATGTTCTCACTCATAGGTGGGAGTTGAACAATGAGAACACATGGACACAGGGTGGGGAACATCACACACTGGGGCCTATCAGGGGGTGGGGGGCTGGGGGAGGGATAGCATTAGGAGAAATATCTAATGTAAATGAGTTGATGGGTACAGCAAACCAACATGTCACATGTATACCTATGTAACAAACCTGCTTGTTGTGCACATGTACCCTATAACTTAAAGTGTGTGTGTGTGTATATATATATATATATATAGATATATAGATATATATGAGTTGTTTCCTCAGTCATAGCAAAAATACACTTTTACATATCAGTAAAAATTTCAGTGTATTCTTGTGTGCTCTCTCTTCCAACATGAATATGGGTAGACAAGGCATTTGTTTTAGAATAGTGTCTTATCTTATAAGTACTATATATGTGTTAGCTTAATAAAATATTGAGATAGTGAGTTATGGTTTAAGAAAAGACAATGGTAGTTGCAGTGTGTCAGGAAATGGAAGAAGAGTAAGAATATATAACCCTCTTTCCAATTCAGTTCCTTAGGCTCAGTGGTCTAAATATTAGTTGCTCCTATCAGCTAACATTTCCATTTGGAAGTGACTATACTGAAATGATTCTAATAAGTTTGGCTTTGAAATATTCATGACAAATATAACAAAAATGGCACAATGATATGATCCTATTGGGATATCGATTATTAGAAATATGGCAATTGTACTAAATAACTATATTTTATAAACCCTTGAGGGCCAGCTACTTGGGAGACCATTTAATAAGTAAAAGTAGAAGCAATATATGGATTCTCTCTCAGTGTCATCTGTATTTCCTTCAGGTTTTCAATCATATATATGAAAATAAACCCAATCTACAGCCCTAACCTAAACTGTCCAACACAGTAGACGTCAGCCACACATGGCTATGTAAATTAAAAAAAAATTTAGTTCTTAATTGCACTTGCCACATTTCACATGTCAACAGTCACATGTGGTGGCTACCATATTGGGCAGCACAGGTATTAGAACATTCCAACATTGCAGAAAAATCTATTGGATAGTGAGACTGTACCTACAGTTAGGAACTCTATTAGGGCTCAGTTTGGGATTAATTATATCTAAACTTCTTCTAACAAGGGCGCATAAATGCTAAACCAAAGAAGATAGGAAACAGAGGCAGTAATTATTTTCTCTATTGCCACATTTAAAAGAGATAAATTCTGCCATGAGGTGTTATTGTTCTCCATTATCATTAGTTTGGTGGGGTGAGATGAGAAGCTCATCCCAAATGCCTTTTGAATATGTAAGACCCTTAGAGTAGGACGGATTCCAAGAGATCCACCCAGAGTCATCTTATCTGAAGTTTATATAACTTTAAAAAGGGGTATTGAGAGTGAGTTACAAAGATTTTGCAGGATTCATGACTCATTTATGTGTAGCATCTACTTGGGTAACCTTCATTTTGCAGGAGTTAAACACTCAGCAGGAATGTGCTTGTTAGAGACAATAACCACTGCTGCATCTTCAGGCAATGTGGAAACAGTTAACCTTATCTGCGGATAACAGAACTGGCAGTCGCTTCTTTTGCCATGTCCACCACAGATGGTTCTCAGGAGCTGGTTATTTGGTACTGATGATGCAGTTTGTGAGAGGAAGGCAACAGTTATCTAATGAACACCTCAAATGTCACAACAACATTTAAGACACAATAAGAAAAGTAAGTAATCTTTTTCCTATTTTACAGGTGGGAAACTGAGGCTCACAGATTTTCAGTAACACGGCCAGGCTCTCATAAGTAGAAAGTGATTGCAAAATTTGGGAAAAAAAAAAAAGAGGCAGGGGTATGTTGCAGTGCCTCATGCCTGTAATCCCAGTGCTTTGAGAGGCTGAGGCAGGAGGATTCTTTGAGGCCAAGGGTTTAAGACTAGCCCGGGCAACATAGTGAGACCCCCCTGTCTACAAAAAATTTAAAAACTAGCCAGGCATAATGATGCATGCCTGTATTCCCAGACACAAACTGAGGCAGGAGGATTGCTTGAACCCAGGAGGTCAAGGCTGCAGTGAGCTATAATTGCACCACTGCACTCCAGCCTGGATGACAGAGCTAGATTCAGACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCAAAAAAAAAAAGGAAAAAAGGGAGGAGTAGGGGAGGCTTTTTTTTTCCCTCCATATCACACTATCTCCCAGAGGGAGAGAAGGGGCAGATCCTGATCCTGGGGAATTTTTCCTTAAGGATTCAGACCTCCTCGTTCTGCCATCAGTTACGCTATTTTGGAGCATCCTGTGTCAATAGAGTGAGGATAAGCACCTTTCGAAAGCTGAAGAGATAATACACATAAAAATGTTTTTCTGCACCATCCTATCCCCTGTCAACACTTGGCTCTAAACGGCAGAGGGTGCCAAACTGAAGCAGCTGTGTCAGTGTTGTTTGGCTTGTTCACAGACACCTGTGTAAAAAAAAACCAACTTGGAGAAACATTACTTCTCATTCCATCTGCCTTTCCTAACCTACCTTTGTTGTATTCATTATTTTATGATTTTTTAAATGTTTAATTGACAAAGAATAATTGTATATGTTTATGGGGTGCAACGTGATGTTTCAATACACGAAAAGATAAAATCAGGCTAATTAGCATATTCATCACCTTTTCTTCTCTAAATTACAAATGAGTGTCCAAGGTCAATGCTCAGAGGCTTTCTGCTCTTCCTCGGAGGGCAAGCATCACATCTGTGGCTGAGTTAGAGAAACGGCTAACTAGGGTGGCACAAAATCACAGAGATACAAGAAACAGAGGTGAACACAGTGACCTCATTTATGATGCTCACAAGCTTCACAAATGCTCACATAGAGCAACCACTATAGACATCACAGGAACAGAGGCTGCCAACTCTTTGAAGCTTATTTTTTGAATCTCCTGTGGCAAGGATAATTTGGCAAGCCTAACAGCAAGCACCAGCTCCTTTGTGTACTGTTCTATGCCTTTGTAACACACATTCTACCTCCAGATACTGAAGTCATTTTTATTTGAACCAGAATAAGACACCAAACAGTTAGGCACAAGGCTGTCATAAATGTCAAAATTCGATAAAGATTCTTAGAAATTTTTTTATAAGCTTAATTTTTGTCTCCTAGAGTCTGAGCCCAGAACTCTAGATATATATTTCATAAAACATGATTTTCCTTTCTGATTTGCTTTTGAAAGTTTGCTTTTAATGAACTCCTGTACAATTGCACGGTTCAGTATTACCCATGCGGCATGTGTTTGAAAAATTTCTGCTGAGCTGTAGCATGAGAAGATGTTGTATTATTCAGCAGCCAGTTGTTGTAACTCAGGCAGCTTTGTATAGTGAAAAATAGGAAGAGAAGTAATGAAATGCATAAGTAAAACAATAAATTATAATCTGTGCAAAAGCTAATTTGCTAATTTGCTATACAGTAAACATAATATGTCTGGATCCTATTGAAGCATATTATGCAGTGTCTTGTGAAATCTTATTTGCAAAATTAATTTAAATGGTCTTGGAACAGAGATGAAGGACTGTAAACAAGGGTAGCAATAAATGGCAAAACTGTAAGAAGCAGCATTCAGCCAGTTGAGAGGGAAGACTCTCAGTCCTGGCAGAGTGGAGAAGGTAGTGGGTGGGGAAATAGGTGGGAAGGGAGGGTTTGAGAGTTAACTGGAGGTCACCAAGAAGCCAACAGTGAGGTAGATTCTCAGCATTTCATTCTTTCCTATTCCCAAACACAACTGCCATCACTTTTTTGTTTCTTTTTAGAACAGGGAGAATGAAAACCCTTTCTCTCTTTGCCTTTCTCAAGCATACTCTATATAGGCTTCCTCTGGCTGTCCTTCAGTCACTGGATCTCAGCCTTACCCAGAACCCAGTGTAGGGGTTTGGTACACAATTCCTTTGGTAATCACACAGCCCTGCTAAGGATTTTTTTTTTTTCTTAGGATTGGGATTGTGATGGTTGTGATGGTTAATACTGAGTATCAACTGGATTGGATTGAGGGATACAAAGTATTAATCCTGGGTGTGTCTCTGTGGGTGTTGCCAAAAGAGATTAACATTTGAGTCAGTGAGCTGGGGAAGGCAGATCCACGCTTAATCTGATGGGCACAATCCAATCAGCTTCCAGCTAATATGAAGCAGGCAGAAAAATGTGAAAAGGAGAGATGGGCCTAGCCTCCCAACCTGCATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATTGGACTCCAAGTTCTTCAGTTTGGGGACACAGATTGGCTCTCCTTGCTGCTCAGCTTGCAGACAGCCTATTGTGGGACCTTGTGGTCGTGTAAGTTAATACTTAATAAACTCATATATATCTATCCTATTAGTTCTGTCCCTCTAAGAGAACCCTAATATAGGTGTTAACTGGGACACTGGTTTTGTGCTTTGGTTTGACAAATATTTATGAGTATTTATAAATTTATACAAAACTTTTATTAAAAAATGTATACAAAACTGTATATGTGTTAGGCACTGTCTAGAGTCTAGGTTTACAACTGTCAACACAACACTGTCCCTATTCCCCAGTGTAGGGGGAATACAGGTGTTTACAATATACTCTAGGTTCCCTAGCCAAAGACAATCACTCTGTCCAGTCAGTCATCTTGCAAATTCATGCTTTCAGAATGAAAGGTGAAACACAGAGTTTCAAGAGTCTTTTATTGTGTGTGTGATTATGCCTCTGAGGGCAACAGGTAACCCAAGGGTGATACCTGGGGCCACTGCCATCCCGAGTTAGGCAAACCCAACATCACAGAATTAAGTAGATAGAGTCTCTCTATTTGATAAGTGGAGACTTAGAAAACTGAGACATCTTCAAGCCATGAAAATTAATAAAAATATTTATTTTGTATCCCAAGAGGTCTAGACCCCAAATGTCCTCTATCTGTCCTGAAATGGTGGTCACACATGTGACCATCTTCCTCTACCGGATCTGCTAAAGGGTGGCTGTGGTGCATTCTAGAGCTCCAGGAAGGGGGACACACCAGAAATTCCAGACATCTAAGCAGCATGCAAATTGAGAGCACACTGGCATTAACAATTATCAAGCTTCATTACAGAACTCTTGTTTTAAGCTCACTCTACTCCAGTCATTTTGTAGCCAGAGCAGGGCCTCATGCCTTGTAAAAACATAACCCAAGAGACACAATCACCTCAGGCAATATTTTGAATTAAATTACTGGAGATCACACAGCTCTAATTTACCATAAACCATATGCCCTCTGTGCAGGAATTTTATGTGGTAAGGATTACGCCTATCATTTACAAAGACAGTTTATGGATTTTTTTAACCTAATTGACATATAGTTCAGCCACGCTGTAATCTACATTTTAAGTTTTTGTAGTCAAAGCTAGTGAACAGCTAAAATAGCCAAGGTCCATTCACGAGCAATTGTTAAATAAATAAATCCATCACTTTCTCAGCAAATGCTTAAATGAGCACAAGCTAAGTAGTGTATACACATGCTTTTAGCATCAGGTAGAGATCCCTTGAAAGATCTATCTAAGCAGTAGGACTGCATTTTCTTTTTTTCGTGGTGTCTTGGAAGGTAGAAGGCTTTCATTAAGGGTTCATGTAACAAGTTTATTCTCCAGTCTTCATCAGAGAACTTCTCAGCAGCTACTAATGCTTCAGCACTTATGACTAGGTTCTCCTGAATGGAGAAGGTTGAGGTGGGCACAGGCGGAAGCAGAATCTTCATCATTGTCCCCCTTACTTTGGTATCATCTCCTAAATAACCTTTACCTGGGATGACAGCCCCAGAGAAAGCCGCACAAGCTGGACAACAGGCCACTGGATGGCTAATGTGGTGGGCTGCTCTGCTCCTGGACTAGGGAAATGGGCAAGGAGGCGAGCTTGAAATTCTTCCATTCCTCACCTAATCTCTGAGGGAATGCTTCAGGTCGATGTATAAGAATTGTGGAGATAAGGGAAACATTGTACATGGTTGGTGGGAATGTAAATTCATACAGCCACCATGGAAAACACTATGGCAGTGACTCAAAAATTAAAAACAGAACTACTATATGATCTAGCAACCCTGCTTCTGGGTGTTTATACAAAATACTTTAAATTGATATGTCAAAAAATATCTGTGCTCCCATGTTCATTGCAGCACTATTCATAATATCCAAGTTGGAATATTGAAACTTGGAACATTGGAACAATATATGGAACCAACCTAAGTGTCTGTCAACAGATAGAGAAAATGTGGTATATACACACAAGGAAATACTATTCAGCTTTAAAAGTGAAGGAAAATCTGTCATTCGTGACAACATAAATGGAATTGGAGAACATTATGCTGACTAAAATAAGCCAAGGCATAGAAAGACAAATACACTTTCTCATATATGGAATGTAAAACAATCAAACTCAAAGAAGCAGAGAGTAGAATGGTGGTTATAGAAGCTGAGGGGATGAGGGCAATGGGGAGGTGATGGTCAGAAGGTAAAAAGCCTCAGAAAGGAGAAATAAGTTTTTTTCTTTGTGACATATTACACAGTATGGTGAATGTAGTAAATAATATACATTTCAAAATTGCTAAGAAAAAATTGCAAGTGTTCTCACCACAGGAAATACTTGAGGTGATAGATATGTTAATTAGCTTGATTTAATTATTTTACATTCTATTCATAAATTGTAACCTCACTTTGTATCCCATAAATATATACAACTATAATTTGTCAATTTACAACTAAGAATGAAAATTTTTAAAATAATTTAAAACTCCTGTTACTTTTTACAAAGTTTCAGTTACACAAGATGAGTAAGTTCTAGAGAGCTAATGCACAGCATGGTGACTATGGTTAACACTGTATTTTATAACTGAAATATGCTAAGAGGGTAGAGCTTAAGAGTTCTGATCCTCCACCTCCCCACACAGAGAGAAAGAAAAGATGATAACTATGTGAGTTGATTGATACTGTAATTAGCTTGACTGTGGTTTTAATTTCACAATGTATACATATACAAAACATCGAGTTGTATACCTTAAATACAATTTCTATTTGTCAATTATACCTCAATAAAACTGAAAAAATATTACTCTTGTTCATGCAGTAAGTAAAAAGACTCAGTGACACATCACTTTCATATCCATGTTCTCCATCTCTAAATTTGTTGTTGTCATTATAAAATAGAAGACTAAAAGAAGGGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTCAGGCAGGTGGATCACTTAAGGTCAGGGGTTCGTGACCAGCCTGGCCAGCATGGCGAAACCCCACCTCTACTACAAATACAAAAATTAGCCAGGCCTGTGCCTATAGTCCTGCTACTCAGAAAGTTGAGGCAGGAGAATCACTTGACCCTGGGAGGCGGAGTTTGCAGTTAGCCAAAATCATGCTACTGCACTCCAACCTGTGCAAAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAAGAAGATGATTATTAAAAGAAGGGGAAATCAGAACGGAATTTCCACCTGATTAAATACTATTTTTTCTGGTCAAAAACATTTCCTGCATAGGAAATACAGTTTCTCTATTATGTCAATCTTACCCAATCTATGATCAATCTTAGTGCTGGAAACCCCCTACACATGCGGAATAACTTCTAAAGACTTTTCACACAGAAAATACAATACTGAACTATTAATAGAAAGGAATTACAGTTTTAGCTGTAATATGTAAAAAACTTGGAAGTTGTATTAAAGAAAAAATTATTCAGTGATATTTGCTAAAGCATATTAAAGAAGACCTTATTTAAGACCATTGAGATAGGCACGGGGCCACTGCAACAGGGTCTTGCAGTGGAGGAAAGAGATTGGACTCAACTGTGAACACAGCATGGGCAAAGCGGAAATTTATAGGCGGGGAGCAGGGTAGGGGCTAGTGGATGGAAATTACTAATAGGAAACATCTGTGATAAGGGGGACTCTGGCCAAATCAACTGAAAGTATCCTTACAGGGTTAACAAGAATTACACACCAGGGTCTGGACAGAAATATAGTTATAATTAAGCATTAATCAGGCTGCACTTTGGCTCACTTCCTTGTAACTGAATCATGTAGCACTAGATACTGACCACTTACATCCCCATTGTTCCTACAGATAGGAATTCTGATGTTAGAGTCATAGGCTTTTGTTTAAGAATTGCTTAAGATGTTCTTTAGATCTGGAATTCCAATGGAATGACTGATGTCAACCAGTTTGAGGACCTCCACAGAGAAACTGAATCAGCATGACAATGTAGTTTTTTCATCTCTCAACCCATGACTTCACCCTGCACTCTGCAAACTGTACCACTCTGCCACACTTTGGCCCACCTAAAATTCCTGTCCCAAATTTTTTTTAGGGCGGCAGTTTTGAGGTTTCCTACTGTTTCTTCATTTGGCTGCCCTATGATTATTAAACTCTCTCTGCTGCAGTCCCCAGTGTCTCAGTATATTCACTTGCTGTGCATCAGGCAAATGAACCTATTATATGACCTAATAGGATTCTTGCTGAAGATATCCAGGATGATCAGATATTGGAGATAGGGGATTCTTGTTAAATTGACTTAGCAAGGATGGCTAAAACTGGATTTTACCAGGAAGTGCACAGATGGGCAAAGGTTCAGATGGCCAAGTAAATTTGGCCATCTAGGATTAAAGAGTCATTGCTAGTTGTCAACTTATCCTTACTACAAGAAAAAGCTGGACAAATTAAAAACAAATGACTTACCTTGGACACATCAGAGAACTGAATTTGCAGAGAAGACGGCCACCCTGAAATCTGTTGAGACAGGCATATCCAGAACATCACAGGAGAGGTCTGCTTACCTGGGGTAGAAGCGGCTAGAGGTGAAAACAGGTAGATGCACTTTAAATGGTAATTTTGGTAAATTGCTAAAGGCTGAGCGTGGATTACCTTGAGAGTAAGAAACACTTGGACGCTTCAGTCTCACATTTATAGGCTTGCCCTTCAGGAAACCCACCAGGTTCTCCTAATAATGATTTGAGAAAATTCCCCTGCAGACCCGGCAAGGGGAGGGGAAGAGTAACCCTTGTGAAACAAGCCCAGAGTGTTCTTATAACGAAGCCCTACTCTCCCGGAGAAAGGACTTCAGTCAGATCTCTTTCTCTGTGATGACTCTCCCAGTTCTGCTCTTCTCAGTATATTGGCTTCATTATCAAGCCAGCTCTTTCATAATGGCAAAGTAACCGCTGCAGTTCCAGCATTCACATCTACATCCTATGCAGACCAGAGGAAGAGTGTCTTCTCCACTAGCTCTCAAAGAGCAACAGAGTCTCTCCCTAATTAGCCCCCTGAAACTCTCCCTTATGTTTTATCGCAACAAATTGGGTCATAGTCCCATTTGGAACCAATCCTTCTGCCTGAGGGAATGTCATGCGTTGAGTTTCTTAGTTTGGGCTTTTGGGAGTTAGGCTAGAGTTGGGGAATTACTTTTAAGGTGAGGGAAATATCTGAGCAAGTGTTCAGAAGCTTGCTCAAACTATTTCCCTCACCTTGAAAGTAACTCCCCAACTCTGGATGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTAAGTATGTCAAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTGATAATACAAAAAATTAGCCAGGCATGATGGCAGGCACCTATAATCTCAGCTACTGGGGAGGATGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGAAGCTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCAGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGTAATTCCCCAACTCATTCACTCACCTCTTCTCTCCATCACCACATTCTCTCACTCTCTCTTTTTTTTTTTAGGTTTTTCCAAGAATATGTAAAATGAGACTTGGAGTTTAATTAAAATCAGAACAGGGATACATTAAACAAACAAACAAAAAATACTTTTCTGATTATCAATTCTTGAGACTCAAAGCATCCCCCAAAACATTGGATATCCAGCTTATTCCCGAGAGACATCAACCATCACAAAATGTTTTCACTCTGAACTATTCACATTTTTGTAGCAGAAAACAGAACAAAGTTCTGCAGACATCCTTTCTCTCTTCTTTCTAAAATGTATTCACAGACAGGGTCTTTTCATAGTTCAAAAGAAAAACAGGTTTCTTTCTTGGCCAAATGGCCTTCTACTCTCACCCTGGGATCTGATTTCTTAATAAGAAAGTTCAGGGCACCAAATCCAGCCAGAAATTCCCAGGACACCATTGGCTACTTAACTATGAGGGGATGGATGCTTTAGTCTTTCTATGAGGGGAGTCATTCTCCCGGGATTATTATGTCAGTCGATAGTCCCTGGAGAGGTAGGTGGGAAGGAGGGTGAATGCAAAAGCTAAAGGGTCAGAGAAAAGAATGAGGCTTTTATGAACAACTCATAGCAAGGCAGAATGGTCCAGTTTTACAAACCACCCACTGCAGACTCCAAGCATGCACACCCAAAAACTAGAGGGGAAACGAAAGAGTTCCTGGGGGACAAGGGGATACAAAACATGGTGACATAGAACAGCAGGCTCGCCTATGAACATTTCTCACCTTGCTAACACTGGAAGATGTTTAACTAAAAGGTTGCTGTTCAAAATTGTACTGAAAACATATCTAAAAATAGGTCTGTCATCATCTTAAAAATAAACGGTCACTTCTCAGATAAGAGGAGTGACAGATGTTCTCATATACCAACACTTGAGGTATATTTGATGTAAATTTGAAAAATGGCCTGGTAGAGAGAAAGGAAAGAAAGGAAAGAGGAAGACAGTGAGGGAGGTAGGGAGGGAAATTCAGAGTACAATAGGAAAGGCAAGAAAACTGGTAGGAACACATTTTTTAAGCCCGTGCTTATCTATCCCAGCAGCCAAACAAAGCAGATCCAGAAAGGAAAAAAATGCAGTTTTTTTTCTAAGAACATTCTGAAAATCAGCTTCAAACTCAAAACATAAGAAACTGCAATCTGAGAACAACTATCACAAGGCTCACTGGACTTAAACATGACGACTGAGACTGGGCACTCAAATGGGTCAACGCTCTTCAGAGGTCATTCTTAGGCGTTATCTGACACAATACTATGATCAGGCCTTACCCACCAAGTAAAGGCTAAAGTGACTCTATTACTTGGTACGGACCTGCTCTAGAAGCAGACAAAATCACCTCGCTTTCTTGAAGTACAAGAGGACTCTGCCAGCAACAAGATGCAAGCAAGAAGGAGTGGCAGAAGAAGAACAAAACTGGTTACCAAAGGCTCTTTTCTGATGCACAGTGTTAAACATACCTGCACAAATGCTCTAAGTAAAAGAACGGGAAGATGAACTATAATACCAAAGACAGAAGACATTCCTCCTCGAGGAAAGAAGGGAAGGGGACCTCAAAACAGTGTCACAGGGTAATGCTACCAGAGTTGGCCAAACTGTGCTCTGTTCCAAGGGACAAATACCTCAAGGTGAAAGGGAAAGCAGCTCTCTTTTTATCATTTCCCCTTGCTGGCTTTAAAGACCCCAAGCCCAGACTCTTGCAACACTGAACCATAGGTGGGATGCAGGGAGGAGAGACAGAGGGTAAGGAACATGAATGGTGTTAGGCCCACAAAGCTTCTGTATCCCTTTCCCAGACTTCCCAGCCAGGCAGTTGTTGGTCGTTGATATTTGATTTGGGACAAAATTGCAAGGTATGAGGCTGGCTCTCAAAAAAACAACTAGGAAAGCCAGAGTTTAACTGTTTTCCTCTAAACTGAGCTCTACAGAAATACACCAAGAGCCTTCAATCTAACCTGTTTAAGTGGGAAGGGGAACAGGAGACATTTAAAGGCTTAGCTCTAGAATCACCTCCTTCAGGATCATTTCCCCTACACACAGATTGCTTCAGGTGCTCTTCTCCTTCCTGTTCCTCCATTGTGGCACTTGACAGTGTTACATGGTTGGTGGTTTGTGTGTTTCTTTTTCTCCTAGCTGTTTATGCTACTGAATTAGCAGCATGTAGTGCAGCCACACTTAGTAAATGCTCCACATTTATGTGTTGAAGATAATTGGTGAAATGAAATAACTTTAGCTTTAATGGTGGAAGCCTTGCTTGAGGCTTACTGGAATTATTGCATCTGATCAGAAGTAGCCATTGACTCAGAATTGTTTTATATAAATCCTTCCCATTCCTCTCTTTCTCTTGTCTTCCACCTCCCCTTCCTCCTCTATTACACGCAATGTATATCGGAAAATTCTAAGCACATCTGACTACTGATATTCAAGAGATTTGACCATAGAATTTTGGAATAAGTTGCTTCATTTTGGAGTCACATTGAATGTGAAAACCTGAGAATGCATATTTTTGGGCTGGCATCTAATCATTAATAGCTGTGCCTTTTCTCAAGCACTTCAAATTTCTGAATTAATACATGATTTATATATATCTGAATTGTAAATAGTATAAAAGAGCCTCATCTGCTTTGGTTCAAACTGCAGCCCTAACTCTCATCAGTTGTATGAATTTGAGCAATTTACTTAACTTCTTAATGCTGTTTCTTCATCTGTAACAGAGCTGTTGTGAAGATTTAATGAGATAATAAAAATAGAGCATTGGGAATGATGCTATGTGTAATAAGTGCTCAATAAACCTGAACTTTTAATTCTATTATTCTAAAGTAAAACAATGAATTCCACCATAGACTCAAGGTGTCATTATTTTTAAGTGATGTTTGTATATTAATTTGTTATGTATCCTAAAGCTTGAATCATTTATGCCTTCATGCTTTTTAAAATTCATACCATTTTCATCTTGGTCTTTTCTCCATACATTCACCTATTAGATATTTTTAAATTTTATTTTTTCATTCATTTATTCATCCATGGCAAGGCTACATACCAAAGTCTTCACTCTTAAATTTTCTGTAAGTCTCTCTCCCTCTCTGCTATCTCACTGGTATCCTGAGTGCTGTTGGTCACTACCACCTTCCCAGCTCCCACAAAACAGAAAAAAAAAAAAATAGATTCAAAGAAGCCCTGGTTCAAAGAATAAGACAGAAAAACTTGGAGGTTTGCCAGCAAAGTTGGATACATAGAAGCTCATTTGATCCATTCAATAATCCTATGAATTAGACACTATTATTACCCCGACTTTACATATAAGGAAACTGAGTCAAAGAGCAGTTAGGTAGCTTGACCAAAGCCAAACAGAAAGTGGAAGAGAGAGAAATGAAATCCAGGTTGTCTAGCTCCTCAGTTGGACAAAAATCATCTCATCCTTATTCTGGAATGACTCATTATTCAGTTCAAGGGAGAGGCAGAAAAATAGATATAACATAGGTAAGTATTAAAAATATGGATTAATGAAAAATGCTCAGAAAGCAGAGAGGAGGGAATGGCCAACTATCAGGGACATCCAGTCCTATCCTGAAGGATAAATGGATTTTCCAGGTGGAAAGGGGTGTGCAAACACTGTGGGCTACAGGAACAATGTGTGCAAAGACCAGGGAGGTAGAAGAGCCTGATTCAGTTTAAGGAATGCCAGAGGGCTGTTTGGATGTCTACACAGAAGGAGACATTGGAGACATGACAGTGGACACATACCCCAAAATATGGCACATTGGCATTTAAGAAAACAGCAGAATTAGGAAGGTCATCCCCACTTTACCCTCACCCTTCTTTTCTGAAGTAGGTCAGAAGTCCATTATTGAGGTGCCCTCCTTAAACTCAGAATAAAGAAACATTCTTATCTCTGAAGACACAAGGACACAGAGAAGCTGAACAAACAAGTCTTCCTAATGTTGGGACTCAGAAAATAATACCCCAAAAGTTTGGTGCTTTGACATGCTGAATACTTTACTTATTTATGTATTTATTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCCCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCTCCCAAATAGCTAGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTTGTATTTTTAGGAGAGATGGGGTTTTTAGGAGAGATAGGGCCTGTTATCTGTCATGTGATGTTATACCAGAGTTAGGCTGGACTTGGTATCTTATTGCTACAAAGAGTTTATTCTGTGAGTCTAAGGATCTCTACTTTAATGTTAATGCTGCCTCAAAAAAAAAAAAAAAGACATTTACTATCTACTCTTTCTGAAGCCTGCTTACCTGGAGACTTCATCTATATAACAAGAACTTTGGCTTCCATAAGCCCTCTATTTTAACCCTAAGCATTTCTTTTTGCTGATTTTAACTCTCTAGGCAAAGCTTAACTCATTCAAGCAATTGCAAATCAGGAAATCTTTAAATCCACCTAAGACCTGGAAGCTCCTGCTTTGAGATGTTCCAGCTTTCTGGGCCAAACCAATGTATTACTTACATTTATTGATGTATGTCTTTGCCTGTAACTTGTGTTTGCCTAAAATGTATAAAATCAAGCCATAACACATACACTTTGGGCCCATGTTCTCAGGGCCCCCTGAGGCTGTGTCACAGGTCATGGCCCTTACATTTGGCTCAGGATAAACCTTTTCAAATATTTTACAGAGTTTGGCTTTTTTCATCAACATGGGGCAAAGGCTAAATATACTTTATATTGTACCACGAGGGCTATAAATCCTGATGAGTAATCTATTGTCTGAAGAGGGAGCTGGTTGTGCAGTCTGTTGTTCAGATAAATGTATTTTTAGGAAGTTTCTTTGTCAACCAATAACATTATTTGTAACTTAACCTCACTGGGTGAGAATTTCCCAAAATAGTAAAGTGCTGTTACTATAGACATTTCTAATTCTTAATCCTATTAAGCTGTGTGGTTGATACAGGTTAATATAGGAAGGGTCCCTCCTACCGCCGGATTTTTTTTTTTAACTAAGAAAATATATTTAAAGCATTAGCAAAAAGTAAAAATTCTAACACTTAGCAATGTAAACCTATGTAAGTTTAAAATAGGTAAAGGTAAAAATTAAGAAACAATTGCTTCAGTCCAGGTAAAATTTAGTACATTCAAGAACAAGGTTCATGGCAATGGGAATGGATAGGAAAGATATAGTCAAGTATTGTTCAGAATATGAAACTTAGAGGACATTATAGATTGAATGGGGAGGGTGAGGAGAGGGAAAGTGTGACCACCACAGCCATTTGGATGAATGATAAAGCTGCTTACTAAGATACAGAATGGAGAAGATGAAGCAGATTTTGAGGAATGAACTTAATTTTGGATACACTGCTGTTATTTGAAGGGACAGAAATGAAAAGGCACTCTCTCTCACTTTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTACATATATATATATATATACTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCTGGGTGGAGTGCAATGGTGTGCAATCTTGGCTCACCGCAAGCTCCACCTCCCTGATTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGAATACAGGCATGTGCCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTATAGGCCTGAGCCACTGTGCTCAGCCTATATTTTTTACATTAATAAAAAATTAAGTGTAGTCTTTGCTGGGACACATTTAATTGAGGAGGCAGTTGGGAACACATGTCTGGAGCTCAGGATAGTAGTAAAGCCTGGTGGTCAAAGCAGAATAAAGATCAATGCTATGGCTCAGTGGATGGTAGCATCTGTCCTTGCCCTGCCCTTGCGGGATTGTAATGTATTGTGTGTGTATTAAAGTTGCTAAAGCATTGAGACTTGTTCATTTTATTAATTCAATGAAACTAATCAGGCATCACCATGGTTAATAACCCTCCTTGTAAACCACAGCAGGAAATTTTCTGATTCTAGGCAGAACACAATGGCCATAAATTTTGCACTATGAATTATAGAAGAATGCAGAAATCCTATGCCAGTCCTTAACTGAGCAACCACAGGAGGGCTAATTGTCTGCAATCCTCTCTCTTCCTCATGCTCAAGGTCTGGGAACTAATTTCAATTGCTGATTAAAATGGTCATTTCCTCCCTTGTATTTCAGTGTTCATAACTACATCCTTAGAATTCCACAAATTCCATCAAGTGTTAGGAGTGATGGAGCTGTATAGTAAGGATAAGTCTTTCACCCAGTACTGAGGACACAGAGCTAATAATGAATAGGAAAGGATGCAAGGGGCATGCTGAAAAGTTAGAGGCTACAGTGGCTAGGCCAGTTTCACCATGATGTAGTAACTGTTGGAGTTCAGAAAGTAATACCCCGAAGGATGACGCTATGGCATGCTGAACACTTTGAACTACAGTGAATTATAAGAACTTAGAAGCAGCCCCAGAACCAAGGACTTTTCAACATTCTCCTGTGTTTCCCCCTAAGTACAGGGTGGAAATCTCTCTCTCTGAAGTTCCAGTATCTGAAGTTTGGAATACAATTGCCTTCAGTCCCCTCCCTGAAATTGTATTAACCAGAGAATATTAGATTCATATCTCGGAAAGGAAGACTGAGGAATGTCACCACACCTAGACACTTTGACACAGGCTATTGTTTTCCAGTCCCATTCAATTTCCAAAGAGAGTTACTTACAAACTATCATTTATTCTTTGGGCTCAAACAACTCTCCTGAAAATAATTTACTGCCATTCAAAATTGCTTATATTCCCCCATTTCCCTATCTCCTGTAAAGAGAGTATTTAAGCATCAACCATTTGGCCCTTCTTTGAGTATCGTACCTTGCTTGGCTCTTGTGCACACTTGCACATTAATACATTTATGTGTCCTTTCTCCTGTTAATCTATTGCCAGTCTATTGCAGCAGACTTGAAACTTCAGATAAAGGAAAAAGTTTCCTTTGCCTCTAACATAACCAATATTCTAGCCAAGGGAAAAAATTTCTTCATTCTTCTTCAATGTTTACTCTAAGATATAAGCCAGGAAGCTCCTAACACTTTTATGAACCTTAGAATCAAGTAAAAGAAGATCTTAAATTAAAGACTTCTGAAAAACTGAGGTTAAGTCCAGACGACTTATTCAACTCAGAGTCTTGAATAAAGCAACTAGCGGCAACCTCCAAAATTCAGACTCTTTCTGAGTACTCTTACACATCCAAGGTCAAAGGAAAGGGCTTTAGTATGGATTTTCATTTCTTTCTCTCTATGAAACTGGATTTGTTACCTGTGATCAAAGTTAAAGAGGTATTTACACTTGAAGGCCTACAAGCCTTCTAAAAATATTGTCTGCAAAATTTTTATTTAACTCATTTTTAAACTTATTCATTATTGTTAAAATAGTAGAAAACGGATTAGAGTTGAAGGCAGATAAACTGAATTCTAATTTTAGCATTTCTTCATTCATCTAAGCAACATGTTTGCAAATCTATGTAACACTGGGCAAGTGATGGAACTTCCAATATGCCTCGACTCTTTCTTCACAAAATGAGTGAGTGAGATTAGATGATGTCTAAGTTCATTCTAGCACCAATATTCTTTTATAAAATTAAAGATGAGTTCTATTGGGAAAAGAATAATCCTACTGAATTGTATTTATCTCTTAAAAAAACCAAATGTCACATAAATAAATAAAAAATGGTGTAATGGTGAAACATTAATAAAGATACCAAGTCAGAAAGAACTGAGCTTGTCAATAAAACCTAAAAAGTGGCAGATGCCATGTCTGTAATCCCAGCACTTTAAGAAGCTGAGGTGGGTGGATCATTTGAAGTGAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCCGGCGTTGCGGCGCACATCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTTTAGCTTGGGTAACAGAGTGAGACTTGGTCTCAAAAAATAATAATAAATAAATAAATAAATGGCAGACTCAAGGTAGTGCCATGAGAATTCCAAAGCTTTTAGTCTGAAAGATGCTTAATTTATATGTCTTACAGTTGGAATTCTATTAGGAAAATAGTGGGGATTTTTGTATAGATTTTCTAACCCTACCAAATTCTTAATTCTTAATAATAAAACAGAGGAGAAAATTAAAACAGAGCCAGAGCTGAAACAAGCATCAGAAATACTGTTTTGCTTAACCATGTATTTTCTTTTCTCAACCATATTTCTATTCCACTGCAAGGTGTATAGTCGTCTAGGTTATAACAATAACAAGTCACAAACACTGTTAAGCACAGCTATGTGCCGAAGAGTCTGTTAAACGCTGTACACAGTTTCACACTGGATTTTCACAGAAATTCTATAAAATAACCATTACAATTACCCCCCACTTAACAGTGCAAGAAATGGAGATTTTGAAGTCCCTTTTTGTTTTTTTCGTTTTTTTAGATGGAGTCTGGCTCCATCACCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACCACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAAGTGTGAGCCACCGCGCCCAGCCTGAAGTCCTTTTAAGTAACTTGCTTAGGGACACACTACATAGCTAGGAAGCATCAGAGTTATAATTCAAATCCAAGCCTCTCTGTGCTTAAAGTCAGAGTTCTTGTTTCTATTCATATTTCACACTTTCTTTTCCTCGTCTCTATAGAACAGTGGATGCCATAATGATCAGTGCTGACTCAAAGGGAAAAGAGAGCTGTTCTAGGTATGAATTATAGGCACATGGTGTCCTTAAGAGAACCTGGTGGCAGGGCACAGTGGCTCACGCCTGTAATTCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCTAACACAGTGAAACCCAATCTATACTGAAAATATAAAGAGTTAGCCTAGAGAAGTGGTGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGAAGGTGGAGCTTGCAGTGAGCCGAGATGGTGCAAGTGCACTCCACCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAGAGAACGTCGTAAATAGTTGTTGGCTTGTCTGTGTAAGTTGACTTCACCACAGAACAATTCTGGAGATAAATTTACTGACTAGAATTTTACCAGTTATTTAATCCAATATAAAATATAACATCATTTCACATAATGAACAACACATGGGTAATGAGGTTCAGAACATACCACCCCAATACATGACTATAGGAGACAAGAATATGCCACTGTAAAAATATGCCTCTTTGGCGTATTGATTGTTTTGAGCTGGTTTGAGAAACTACAGACAGATAAGCTCTGAAAGGCTATCCTTTTGTAAAGAAATGTACATTCATAGAGGAAATTTTCATTAGTAAAGTTATCTGTATCAGGAAGAGAGCTACTCTGAGACAACTTTTGTCACCTGAGAGATTTTTATCTGAATAACAAGGCAACTTTTATTCATTGTATATTTCCCTCCTTTACCCTCCCGGAATTTGTCTCTATCAGCCCCTAGAGGCCACAAAATCCTATTCGTTTTTGCAGCTCAAAATGATATATAAAACTCAATCATCTGGGTGCTTCTTTGAACCTCATATTTTTGTGAAACTCCTGTGTGTACGTTTGCAATTAAAATTGTTTTTCTCCTGTTAATCTGTCTTTTGTCAACTTTATTTGTAGACCAGCCAAAGAACCTCAAGGTCTCATGGTGAGTCATTTGCAGAAACAAGGCAGAAATCTGGTCCATCATTTGGCCATATGGTCTTTTAGACCTATCATTGTTCTGGGAAAGTAAAAGGTGATTCATTTCTCACTATTATTTTTTTCTGTGTGATCCAGCCTTTCATGTGTAAATTAGGGGCTCCTTCTGCATGTGAATAGGAGTGGCGGGAAACAGACTGTTAGCTGTGTCTCCTGATCTGTAAGATTTGGATAATTTTTCCATAAACCACCATTTGAGAATATAATTCCATGCTTACTACTATAAAAATCTGAAAAGTCTTGAGGTACTCACAGCCTTATGGTCACTCATAGCTCTGAACCTCAGCGTCCAGGGACTTAGGGGTGTTCATGGGTTTATCTTAATATCATGCTTCTCCTGGCTTTGTTTTATACCTTATTAGCCAAAAACATCAACTTCAGACCTTTCTTCACATTCAACTTTAAAAAAGATCTTCTCTCAAGGGCTTTATGTAAAGCTGATTATGCTAAAAATTTGGACTGGTGCTGATGACAGAGGAAGGATTTACATCTCAGCAACATAAGCAACCAAAAGTTAAACATTAGATATTTGTGTTCATAAAATTTCATCAGCCACTTTGCTGCAGGGGATGTGAATTCACTGTTTTAAAATGCATAGTTCCTGCTTGGGTGGTTTCTCCATTTCTCCATTCCAGTTTTTTATCCTTCTCTCCTCTGATCCTGAAATCCCTATTCTTTTCTCATATACATACCATATTAGTGCATGCAGTCCTGAACTCAACCATAGCACCTGTGTCTCTTTGCCTGAGTGTTTTGTCTGGTCATCTCAGTCAGCCCCATGCATATGATTATGCATGTCTTAGGCCAAAATTACTGGACAATATCCCCTCCTCAGATAATTCTTAACCGATAATTGATGGATACCCATGCGTAGATAACCCAGGTCCCTTACCCTTGGTTTAGGTGACTCTGAGCCTGTGTTCTAAAGGGAGTCTTAGAATCCTTCAGCATGTTTAAGCTCTCGTTGCTAATACATGTTTGACTGGTTTATTTCTCTTCTCAGTCTCTCACTCCCCTACCAGTGTTTTACGAGTTCGCCTCCCATATAAGCCAACTGTTCTCAGATCTTTGTTTCAGGGTCTGCTTCTGGGGGAATCAAAAATAAGAAATGCCCACTTGAAAGATTTGTGAGTTAATTCCCTAAACATGGTTTTCTCCCTAAAAGGAATTAGGATGCAAATTGTTAAGATAAAATATTTATTTTTCCCTTCTGCTCTAAGTATACTTGTCAGAAAGGTTTCCTAATATAATCAACATGCTATTTGGGGGGTTAAAACAGCAGTGACTCTGAAAGTGTGAGGTAACCAAGGCATGCTGATTTATCCTGATCTTCCCATAAAAATGGCATTTTATTTAGAGCATCAGTACTCTTATGCTGAAGAATCACATGTCAAGAGATATCAAGGCTTAAGTTGAAAATGCCAGTAAGAGTATACCTCATATGTGCTTCTCAAGGAAATCCATTTTAATTCCAAGGTGAAGTTTGAGAATCATGATTCTTCTCAGCTTTATGATAATTTAGGAAATAGTAATTCAGCATTTACTATGTGTTCAGAACCATGCGAGACCTAGAAAATATAGAGATAAAAGTAACATATTAGGTGCCCTGCAGGTGTTCATATTCTAATGGAGCAGACAGGCTTTAATCAGCTATGTTAATTCAATGTGGTAAGGGCTCTACTGGAAGGATGCATAAACACCATTTTAGCAGGGTGTTTAGTCTTTGCATGAAACACATACTTAACAATGGCTTACTGGATAAATGGAAGAACAAAATGAAGCCTTTCTAGGTGAGGAATGGAGTTTCCGTACTCTCTTAGATACTTCTGAAATTGTCCTGGGAAACTTGTGTCAATAATCTTTGTGCACAGACATAAAAATTCAGGTTTCAACTTTAATCAAGGATGTTTTAGAGTGTCAGAACCAGGAATGACTTAGAGATTATCTAATTCATTTAGTGAAAAAAATATAAAAGCTAATGGAATATTCCAAGGTCAAATAGAAAAATCATCCAGTTCTATCCTATCATCTTTTACATAAAGCCTTTTCCATATCACACACACACACACACACACACACACACACACACACACACAGAGAGACACGCCCACACAGAGAGTCATACTCCTCTACTCAAACAAGTAAAAATTTGAATTAGAAAAAATAAAGCACCACATTTAGCTAAAGTTTTCTCCAATGTTTTCCAGGGAAAGAGGAAATTAGTACAATTGAACCATTTCAAATATTACAAGACCAGTGTATGACACAATGCAATTGGATTTAGAATAATAGCCTAGGTTGCTTACAAAAGTCCACAGATTACTGTTTTGGGGACAACCTCAAGATTGCCTTTATGTTGAAGAAGATCCTGGTTTATATCTTCAGTTTTTCAGGAAATGTACTGTTTATCTCTCTATTTTTCAGGGAATTTCCCATCATTAAATCTCTAAAAGAGAAAACAAACCCTTCTGGAATTTTATTTTGCTGTTAATTTAAAAGGGAGAGAAAGAGAATGCAGTAAAAATTTTAATTAAAACTGTAGCATTTGGAAGTGCATGGGTTAAGGTTACACTGCATTTATAGGAAAGCTCTTTCCAGCTTTGAAAAAGGAGAAATAATTGCATTGCCAGATTGTGAAGATATGTATTGACGGTAGTGTGAGATGCTCTTGATATAGATTGCCATTGACTTGAATAACTGGCATTTTGCTTAAAAAATGTGATGGAGCATTGACCAGACAAATGCAGGAAGAAAAATGGGGCTAGAGAAATGGTTTAATCATGTTTTAAAAACATGATTAGCAGGTTGAAGAAGAAGCAAAAGTTTTTCTTCATTTATGCAGCAAGAAGACAAGAGTTAGAGTTTCTTAAGATGGCCCAAAAGTTTCTGTATTAAATCATTTGAATGATATACATAGATCTAGAAAAGAATGCTCTTTTCAGAAGTTTTACAAATGGAATGGAAGTGACTGGCCTGACGAGAATTAGGTGAAAGATGAATGTGTGAGTCTGACAGTAGAGAAGCCAGAGGGTTCATATACTAATGAAGTATCTGATTTTAGTGGAGAGGAAGAAGCATTTTTTTTCTTTTTTGTCCAGAAGTAGTTGTGAATGATGGCTTAAAAGGCTTCGCTTGCTAATTTGAAGTGATAGCAGTTTAATAAATCACATCTCCCCAAATCAGAATTATATTGAGCAATCAAATAGCAAATCTTGAGTTTGAAAGTTCCATGCAACCAAGTAGATGTCAATACATAGATACAGAATACAAATACCCAGAAAGTCAGAATCAGACCTTAACTATCCTTTTATTTTCACTAAGCTGGGCCTGTATAAGTAGGCAATAGCCATTTTGCTAAAACCATATTGAGTGCCAACCATGTTCTAGACTCTGTGCTGGGCTGAGGATACAAGAGAGTTTATATTCTGGTAAAGGAAGACATTTAAGATGAACTAATACATTAGATGCAGTGAAAAAGTGCAATATCGAGGTACTATGACTGGTGCAACTAGAAGAATATTAGTAAAAGAATGATCTGAACAGGTGGATCAGAGAAGCCTTCACAGAAAAGAAAATGGTGGATTAGTTTCTTAAAGAAACAGTAGGAGATCACTAGGTGAATGAGTAGTGTCAGGGCCAGCCAGGCAGGAAGAGCAGGCTTTGTAAAGCCACAGTGGCATGATGTAGTATCTTATATTCGGAGAATTACAAGAAATTCTATATTGCCGAAGAGAAGGATGCAAGGGCAGGAGAGTGGGTAGGGGAGTAATTTTGACAAGAGATATGGCTGGAAAGTTAGGTAGGAGCTAGATCACTGAATTTCCTTGCTAGACAAAGTTTGTTGCTAAACTTTAACAAACTAACTTGCTTTGCTGCACTGAGAAAGTCTCAATACAATTTATATGGCTGGCTGTGTTTTGATGGGTCATTTTAAGAATGTGGAGCTATCAGGTTGTCTAGAAAACAATTCCGATGGTGGAAATAAAGGAGTGATGAGCTCTGGGCTACAGAGCTCTTGAAGGAGACCTTCACACATAATGAACTTATTTGAAGTCAAAAAAATTGACAGTGGGAACCGTGCTTGACATTATGAAATATAGGGAAGTGATGTTAGGCCAGTAAGTATGTTTTGGTATGACACAATGTATATTTGTTTCTCTGGGTTACATGGGAGCTTTATCTTCAGGAGAAAGCTCAAGGTGGTTGTAAAGGATTGAACGGTGTTCCCCCAAAATTCATGTCCACCTGGAAGCTCAGAATGTGACATCTGGAAATAGTTTTTGCTGATATATTTAGTTAAGTTAAAATGAAGTCATTTTTTGCTAGATAAATAGAGAAAACAAGATGAGATCACACTGGATTAGGGTAGACTTTAAATCTAATAATTGGTTTCTTTATAAGAAGAGGAAAGGACACACAGAGACAGACAGAACTATATAAAGACAAAGGCAAAGATTGGAGTGAAGTAACACCAAGCAACACGAAAGATTGTCAGGGGTCACCATAAGCTAGAGGAGAGATGGGACTAATTTTTCCCTTGGCGTTTCTAGAAGGAACCAACCCTGCTCATGGCTTGATTTTGAACTTCTAGCCTCCTGAACTATCAGGGTATAAATTTCTGTTGTTTTAAGCTAAGTTCATGATGACGTATTATTAAAACCCTAGGAAACTAATAAGATAGCAAAATATTTTGCTAAGTTGAGAAGTTAATAATTAGTCATCAGGGACTCCAGCAGATTTGGCATTTCATGAATTCTGCCTGAGATTTTGTCATGAAATCTAGATTATAATTCAAATTCCAGATAATGGTTTTGGGAAACAAAAGGGCTTAGAAAAATATTTAAAGTTTGAACCAGTCATATTTAGGTTTCCTTGCTGTCTGTTTCTAGTGTATCACAGTCTGATATGCTAAACAACATAGTCACTGATAACAACTAAAAATGGGTAACATATTAAAACTATGCATTAGTGAGCTAACAACATGGTAAGGCATCCTGAGAGTCCAATGATGTGAACATGGAGCTCCAGAAAGATGAGCCAGTTCTGATGTCAGCTTTTGCCCATCTACTGGGCCTTCATGACCTTCACTTCCTAGTTTGAAGGCTATCCGGGGAACAGGTGAGCAGGAGAAAACATATAGAGCCCAACCAAGGTAATGAGTCTAAATATGACCCCTTCTTGACACTGGGACTGAAGGGCACAATTACAGTGCAAGGGTGAAAAATAAATTACTCCCAGAAGGAAATATTAAGAAAACTTCTCTGTTACCATCTTGGTTTTGAGTAGAAGTGGGAAAAAAATATCTCTAGTGAAATGTCTTAGCTATGAGCCTATTTTCTGGCCACTTTGTAGCCTAAGTTTATATTACTTGTGCAGGTTCAAAAAACTTCAAGTCAAGGTTTAGTTTTAAAGTGACTCCAGGTTGAGACAAAGGCAAGTCCCCTCTAAATCACCTTCAAGCAGGCTTTGAAAAATTTGGACTGATAAAGTTCATCAGCATAACAAAGCTGGACAAATACACATGATGCCAGAGAGTAGGAGCAGATGTGAAGTATCTGCAGATACTGGAATGACCAAGTGAAGAATATAAACTTTGTATGTTTAACTTGTTACAATAAATAAAATATAAGATTAACATAAGTTTAGATGACAATAAAATATGATAAAAATGCCTGAAAATAAATCAAACAGATCTTTGAGATATAAATAAGTAAATTGAATTTAAAACCATAATAAATGGCTAAAGAGCAAATAGTATACAGATGAAAAAAGTTAATGAACTGAAAAATAGATATGAAAAAATTACCCAAAAGCTACACAAGCAGATACAGAGGTAGACAATTTCAAAGAGGAGAGTTTTAACATGTTAGAATGAGAAGGTCTAACATGCATCTAATTGGAATTATTAGGAATTATTTAGAATTCCAAAATAAAATAATGGAATGTGTGAGAGGCAAAATTAGAAGTAATTATGCCTGAGTGTTAAAAAAATAATAATTTGAGATAAATAATTTAAAAATATAAAAAATCTTAAAGACTTAATGAATTCTTAATTTCAGAAACCCAAAAACGTTTCCAAGCAGCTTAAATAAAAATAAATATACCTCTAGACATTTGTTAGTGGAATTGCAGAAAACCAAAGAAAAAGAGATGATCATAAATGCAGTCAGAGAGAAAAGACAGATTATCTGAAAAAGAATAACAAGTAGACTAACAGCAAACTTCTCAACAGCAGAGAAAGAAGGGAGAAGCCAGTGAAATATGTTTTAAAGTAACTGAGAGAAAATAGCTGCTAACCTAGAATTTTAAATCCAAATAAACCTATATTTCAAGGATAAATGTAAAACTATTTTTCAGGTAAAAGCAGAAGCACTTTGCCAAAAACAGATCTTTACCAACGGAACTATTTCAAGTAGAAAGAAAAAAAATCCCAGATGAAAGGTCTTAAGTGAAAGATGTGTTGATGAGCAGAGGAAGAGTTTAATATGATGCTACATCTGGACAAACACTATATAAAAAAATCACAGTGTCTTGTAGGCTTAAAAGAAGATAGAATTAAAATACATAGAAATATGAATGTATATTTTGGGAGGCGGTGACTAGAGTCAACTTTGATTAATTTTTTTAATTATGTCTATTAAAATTGCTGGCATAACCACTAAAAGACTAGAAAATCACTTATATAAGCTGCATGTTATTTGAGGGCAAAAGAGAATGATTCAAATAAAAAAATTCAATTAATAGAAGTCAAAGTAAAGAAAAGAAGTTAGCAAAAAACAGCACACATAGCATAAGATACAGTGGTGACAACAGCTTTAAATATATTACAAATCACAATAAATGCAAAGGGCTAAACTCTTTGAGACAAAGATAGTGAATGCAATGTGGTATCCTGAATTAGATGCCGGAACAGAAAAGGAACATTAGTGAAAAGGCTAATGAAATACAAAAAGTCTGTAGTTTACTTAGTTGCACTCTATTAATGTTGATTTTTCAGTTTTGACAAATGTATTGTTACCGGAGGGTCTTTGTTCTTAGAACTCCCAAGGTAGTGGCAGGCTGCTCCCAAGATGGCAGCAAGCCTTTGTTCTCTGACCTGGGGTTCTTGGCCTCACGGATTCCAAGGAATGGAGCCTTGGGCCCTGAGGTGAGTGTTATAGCACTATTAGAAGCCGTGGGTCATGGAAGAGAACCGTGGAACCCAGCGACTAGCATTCAGCTCGATTAGGACCAACCTGAGCACTTAGTCGCGCTAGGAACAATGGTGAGCCTCTAACCCTATCGGAGCGGCAATGGGTGCCTCGCTGGATCAGAAGCTAAACAGACACCCTGCCGGATCTGGAGGGGTGGAAGTCAATGGCGGGTCTGCGACGGCGGCGTTCAGCAGTGGTGGACGGTGAACAAAAGCTCAGCCTGAGCCGGAACAAACGCGGCCCAGAAGAGTGTGCAGTTGCAAGATTTAATAGAGTGAAAACAGAGCTTCCATACGATGGGAGGGGACCCAAAGGGGGTTGCCACTGCTGGCTCAAATGCCCTGGGTTTATATCCCTATAATTGTCCCTCCTCCTGTGCTCTCAGGCAATAGATCATTTGATTATTTCTTTACCTCCTGCTTTTAGCCTAATTTGTATTTTAGTGAGCCCTCTTATTACCTGATCGGTCGGGTGTGAGCTGAGTTACAAGCCCTGTATTTAAAGGTGAGTGAGGTCACCTTCCCCAGCTAGCCTTAGGAATTCTTAGTCGGCCTAGGAAGTCCAGCTAGTCCTGTCTCTCAGTATCAAGGTTATATAATATGTTAATATGAGAGGAAGCTAGGTAAAGGGCATATAGAAACTATTATACTTGCAACTTTTCTGTAAATATAAAATTATTTCAAAAAAGTTTATTTAAAAAGTCAAAGGTAGTTCTAATGGACTTTTTAAAAAATATAACTCATTTATGAGAGATATAATTAAAATGAAGAATCAGACTAGTTGAAAGTGAGAGAATAAAAATTATATGTCATCAAATCCCAATAAACAGAAATATGGGTGCTGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGTGAAGACCACTTGAGGCCAGGAGAGCAAGACTAGTCTAGGCAACACAGTGAGACCCTGCCTCTACCAAAAATAATGAAAAAAATTAGCCAGTTGTGATGGTGGCGAACACCTATAGTCCAAGCTACTTGGGAGGCTGAGACGGGAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATAATCATGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCAGGAAAATGGAACAAAACATACATATGGTATTGCTGTTATAACACATCAGACAAAATATGTTTAAAGAGGAAAGGTGGATACACATAAACATAGAGATGGAAAAAAGTCTGGGTCTAGTGGCTCATGCCTGTAATCCCACACTTTGGGAGGCTGAGACAGGTGGATCAATTGAGGCCAGGAGTTTGAGACCACCCTGGACAACATGGCAAAACCCTGTCTCTATCAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACATCTGTAATCTCAGCTATTCGGGAGGCTGAGGCAAGGGAATTGCTGGAACTGGGGAGGTGGAGGTTGCAGTGAGTCGAAATCATGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGTCTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAATGATAGACAATGGGGACTGCAAAAGAGGGGAAGGTGGGAAGGGAACAGGAGTTGAAAAATTGCCTATCAGGTACAATGTTCACTGTTTGGGTGATGAGTACACTAAAAACTCAATCCCCACCAGTAAGTGATATATCCATGTAATAAATAAGCACAGGTACCCCTTGAGTCTAAAATTTAAAAAAATGATACTTCAGCAGCTTTCTGTGGGGGGGGGGGGGGGAAGAGTAGTGGTAAGCATGTCATGGCTTGTGTGACCTAATGTTTAGCTTCTGGGAAGGCTTCTTACCCCATCCCTACCTCACAATCCAAAGGATCACATTATATACTCCCATCAACTTAAAATACCATGTTTGATGTAGAAAAAAAGTACTTGCTCATCTTAGACGAATGAGTTTTCTTTATTAAAAGCAATATTTGATAGGTGAAGAGAGAGCAATTTCTGTATAACATCGCTGGCTACCTGAGGGGGCTATGAAGGTACTGAATAAAGAGACAGGGAACTCCTAAACCAAAGTTTACTTGGCATAAGACAACATTTTTTTCAGAGTATATATTTGGAAAACATTTGGTCTTAGACACGTTTATCAAAATGAAAAAGGTTTATAATCAATTGAGTTTAGAAAATAAACTCAGGGAGCATTACTAGAAATAAAGAGGGTTACTTCATATTTATAAGACAATCAACTCTCAATGTTGATAAAACAATTAAAAATATAGGTATGTCGTATTAGTCTGTTCTTACATTGCTGTAAAGAACTACCTGAGACTGGGCAATTTATAAAGAAAATAGGTTTAATTGATTCACAGTTCTGCAGGCTGTACAGGAAGCATGGCAAGGGAACCTCAGGAAACTTACAATCATGGTGGAAAGGTGAAGGAGAAGCAAGCACATCTTACCATGGTGGAGCAATAGAGAGAGAGTGAAGCGGGAAGTGCTATACACTTTTAAATAACCAGATCTCGTGATAACTCACTCACTATCACAAGAACAGCAAGGGGAAATCCACCTTCATGATCCAGTCACTTCCTGCCAGGTCCCTCCCCCAACATTGGGAATTACAATTTGACATGAGATTTGGGTGGGAACACAGAGCCAAACCATATCATCTGTAGTAACATAGCCTCAAAATATATCAATAAAAGATTGACAAAACTATTAGGGGAAAAAAGAACATACCCATCCTCACAGTTGGAAATTTTAATATTTCCCTCTCAGTACTTGATGGATAAAGCAGACAACAGTCAGAACAAATATTGATTATTTGGTCAATTCAATAGCAACCTTGATCTAATGATCTGCTCTATATAGGACGTTATGTTTAGCAACTGGAGAATACACATGAGTATTTTAGAAATTTTGAAATATTAGAGGTTGTTCTAATGACCTATTATTGATTTCTACCTTAATTGTATAATGGTTAAAAATGAAGTCTTTCTACTAAACTATGGTGAATTTCAAACTTGGTGATTTTCAAAGTCAATTTTCATGTCCTGCGTAAGCTTGAAAAGAAGGTCAGTATAGAATATTTATAGCCAGCTTTGAGAGAAATGTATAGTTAGAAACTTTTATATTAGAAGCAAAGGATGAATGTTACCATGCTAACATCCATTTCAAGGGGCTAGAAAAAGAAGAGTAGAATAAACTTAGGCATCTTTCTTTCCCTTAGTGTCAGTGATTAGAGAATCACTGTAATTCTTTGTTGAAATGTCACAAGACGAAAGACCCTGAAAATATGATGTGATAATATGACCCACTCCAAAAAAAGTCCCCCAGTGAGCTATGGTGGTTTCAATAATACTGCTTATTCTTTCAGAAGGCTGTGGGAATGTAAGGGTGGGCAGGACTAAGCTAGGCTAGAGGCTGGGGAAAAGAGCTCTCTGAAGAAAAAGGATTTAAACTGAACTCTCAAGGGCAAGCAGGATTCATCTAGCAAAGAACCCTTACTGTACAACTCTGAAGAAGACAATCTTTCTGCTGAGAAGTTTGGTTCCTCTTTTCTGGATTCAATAAAGTCTGACACAGAGCTCAGAGAGAACCTTGCCTGGCAGGGACATGGAAAAGCTGACCAGCACTAACCTCTCTTTCTCAGGAACAAGGTCTTTTCTGCCTCTTAACTGCTCAGAATTCATGAGCCAAAGATGTTTGTCTCATTAACCTCATGTTAGGGAGAAGAGGATGAAAATGAGTTGATCAATCAGGACTTTGTTTCCTAGTAGCTGATTATAATCATCCAGATACATATGCCTGATTGAAATTGTTCATGATTGAAGATTGGATAGTTGAAGCGGGCTGGTCTCATGGAAGTTTAATCAAATGTTTGATGCAGTGAAAAATGTACTGGACTGGGAGGCAGGGGACTCCAGTTCTTGTTTCTAGTTCATCTACAACCAGCTATGCGATTTGGAGAATTTCCTGTTATCTCTGTATTGCCAGTCTACTAATTTGAAATGAAGGGGTGGGGTTTCATAATCTATGAGACACTGTTGAGCTGACTAACATCTCTACTTATCTTCACTAGAGGGTGAACAAGACCTCCTGTGCTTTGGGTATTGGGTTTTGGGCAATCGAATGGCAGTGGTGATAATGATAATAGCACTAAAAATAGCTAACCACATTCTGAGGGCTACACATTTCACATGCCTGACTTCATTTAGTACTCACAATAACCCTATGAGGTAAAAAATACTCTTGGCCTCATCTTACAGTCAGGAACCTGAAACAAAAGGAAGTAAAGTAACTTGCCCAAGGTCATGTGCTCATAAAGCATGGAGTCAGGGGTGAACCAATCACACAGGCTGACTGCACATAGCAACCACATACACACTACCTTGCCATCTGAGAAGGTGCTTGGGGAGGGAGGAAGGGGGGACATGAGAGAGACCACCACCAAGTGAAAGAAGGAAATGGAGTAAAAGATAGGTTGGGGCTATGACACACTTCATCTGTTTCCCAATTTGGTTTAAGACAGGCCATGACAAGCCAGCCACATTGCACATCTCCAAGGGCATTAGCCACATCCACACAGAGTGTGTTCTTCAGTGGGCAGGTATGTGCAAACCTACCCCCAAAGTCCCAGGAAGCTGAGAGGCTGAAGAAAGAGGCTGGCATATTTAGTGTGGCATATTTCTCAAAAAGAAACATTTAATAGGGACTTACAAACAGAAGCCATGTTTGTGTCTCAGGTGTAGGTGAGACAAGATGGTGGATCCCATGCCGTTACTCTCCAGACCCAGGGCTTATATACCATAGAGAAAGGTGACTCAGAATGGATGTCTAGGATGACTGAAGTATAAAAGCATTAAGACTGTTTGACCTGAGGGCAGAATTTATGGTAAGTACCTGCTCTTACACAAGGAACAATAGATAAACTGGAAGTCTTAGAGGCCTTCCCAGAACAGGCTTAATTGAAGTCAGTGTGGTAGATCAGCATCCAAGATGGAGTTACTTTGGACTCCAAAGAGTGCAGTGTGAATGGCACACTCTGGAGTTGTCCAACATGCAGCCCTGGGCCAGGTAAAGTACAATAAGAGGGGCAGCATCTACTTCACCCTCTCAAAATCGCTTCCGTCCTTTCTTCTCACTGCTGGGGTGAGACTCAACCTACTCTAAATTTATGTGAGGTAGATGTAGGAGGTGGGAGGTGGAAATCAGCCTTCAAAAAGATAAAATTTTAATATGCTTAATATAAACCAGAAAGTTTTCTAAATTTAAAGCTCATTTATTCAAGAAAAGATATTCATATTAATACACAAAGACACATATGAATCTGATTGTTTCAGACCTACTAGCAGAGAGAATCTTCTTTCTGACCCTTTCTTCTTTTCTGTAGCTCAGGATATTTGGAAGATGTATACAAACTCTTGGCTTTATTTGGCTTCTTTCCCCAAGAAAATGTTGATCTTGCTTGCAAGGTAAACTCTTATAGGACCATAGACCTTTCCCTTTGTAGTTTAGGCAGTTTGCTGTCTGAGTAGATGATAGAAATGGACATAGAAATTCTAAATTAGTATATAAAGGGGATTTCAGTTTAAGGAGAGGTGATTAATAATGGGATCCTGGAGTTCTGAGATGATTGTTCTCTTGTCAAGAAGAGTATTTATTTCTTGCTTCTGCTCAAAAACAGGAGGGACCTATTACTAGAATCTTTGAGGCCCTTGAGAAACCAATGGGCTTTGACAAGCTATGCTGGTTTAATTGGAGTCAATATTCTTGTGGTTATGTTGATTTGATTATATTATCATGCCTGTTACATCATGATCCTGTTGAAGGAACAGCCTTATGCAGTTAACTTTGTAACAGGAAAAAATAAATGTAATTTACAAAATTAGACTTTCATAAGAATCATGTCATTAAAAAAAGAGAATCAATCATGTCAGAATTTTTCATTCGTTCTTTTACAAAATGGTGGATAGGAGGCAGGACTAACTTGTAGCTCCCACTTGGATGGACAGAGCAGTGTGTGGAGACTCACATAGTGAATTTTTGCTCCAAGAACTACTGCAGGAACATACTAGGAAAGCCGAGAGAATCCACAAACCCTTTGAAAGAAGCAGGTTGCTGTTGCAGGCCTCCGGAGACAGCTAAAAAACTGTCCAAAGTGTGAAAGTGTGAAAGGGGAATTGTCTGCCCTCAAACACACCCCCTCACTGGGGAACTTGAAGGTCCAGATCATGGGAGGATTTGATCTTACCTGGAGCTGAGACAAATTTAGTGAGCTGAGCAAAGTACAGGGGTAGAAGAAGCAGAGGGATGAGCCCTGTGGGGTCTTTATGTCCCAAGGGAAGCCGTTTCTGAGTTTGTCTCACAGAGGTCCTTGGGGAGGGCTGCCAGAGGAACTGAGAAAAGACCACAGGGAGAAGGAAACTTCTAGCTGAATTTGTAACAGTTTTCACCGAACACAAAGTTTCCTGGAGAGAATCTGAGGGTGTGTGGAGGGGTGTGAATTTGGAATGCAGACATAGCACAGAACCTGTAGCAGGTGGGGAGATGCTAAACTTGAAAACCCTGCGTGCTTTCTCAGCCGTGAGACTGGTAGCCCGGGGCAAGTTCTCAGCCCTGTTCACCTTCTGCCTGGAAATAAACTTGGTGCTGTTGGGGTGGGGGCACAATGGGAGTGAGATCAGCCTTTTGGGCTGCAAGGGAGCTGCGTGAATCCTGTAACTGCTGGCTTTCCCCTCTTCCCTGGTGACCTGGATGATGCAGCAGAGGCAGCCATAATCTTCCTGAGAACATAACTCCATTGGTGTGAGAACCACACCCATACCCCACAGTAGCTGCAGCAAGCCCCATCTAAGGAGAGTCTGAGCTCATGTGTTTATTTATTCTTTTGTTGATAGTTCTACCAGTAGAGTGCAGTGATTAAAGGTATTAAGTTTGGAATTTAACAGCTGGACTTAAATCCCAGCCTTCAACTTTCTAGCTGTGTGTTCTTGGGAAAATGATTTAATCTCTTGAGTTCAGATTTTCTTAATTGTAAATGGGATTAATAGTAGTACCTATCCGAACCCCCCTTTGCAAAGACATAACGGCAGGAGAAATCTAACGTGGCTGACTCCATCTTACCTCTAGCGTCACAGGCTAGCTGTCTTCACTCATTCCTGGGCATAGACCAAGCTATCCATGGGAGGAATTTAGTTTATAGTTTAACTTGGAAGAAGGGTGATAATAGTCCCTTTCTAAAACTCACCCCCTCCTTGCTCAGGGACCAAAAACTAATGAAAAGCCATGAGATTAGGATTAGGGGAGGAGCCTGAACTCTGCTAAAATGTAGGCATAGTTTCTATAATCCCTTACTGCTCAGGAGTCATGTGGTCAGAGTTTACAAGATTTATGACTTCCCCAGTTGCTTCTATAGATAACATCACTATTGTAGAACCTAAGGTTGGTCTTTTGAGATGTTTTTTAGATTTTTGCATTCTGGCAACAGGCCTGGACCTGTGACTCATGACTCATAACTTACCCAGTCCTGTGGCCCATACTCAGAGGTAGACGTAGTGTATGAGGATCATTTTTCACACCCCTATGATTTTATCCTCAACCAATCAGCAGTACTCATTCCCTAGCCCCTACTCACCAATTATCCATAAAAACCCTAGCCTCTGAATTCTTAGGGAGACTGATTTGAGTGATAACTTCCATCCTTCTGCTTGGCTGCCTTGTGTTAATTAAATTCTTTCTTTACTGCAGTATCATAGTTTCAGTGAATTTTTTTTTTTCTATGCAACAGGCAGGGAGAACCCATTGGGTGATTACTTATCTCCTAGATCCATTATGAGGATCAAATCAGATAATGATATAGTAAAAACTCAATAAGTGTAATCAATTCATATTAATAAAATAATACCTTTATCTAATGCAGAGAAAAAAGCTCAGTGAATAATATAGAATTTCAAAAATAAAATAAATATGTTTTATTTCTATCAAGGTTTATTTCTTACTTGTTTGGGATTCTGACAAGATTAGGGCTTTGAAGCTTAAAAGTAAACATAAACACACACACACACACACACACACACACACACATATATACACACATATGTATAATACACCACCCCTAAATAAAATTTACTTTTTCACCACAAATGAAATATTTTCCACTTCTGCCTAAAAGAATACTGAATGATCCATTTTGTTCTACAGAAGAGAGAATATATACTTCTCAACCACCTTCACTATTGAATATCCTTCTAGAAGAACTAAAAGCTTCTCTTTGTTATTGACCTAGGTATAGTGTGTCAAGAGGTCAGATGACAGTGTGTGTCTGGCCCCTTATTTGATTGTCTACTCATGCTGAAAAGATGTACAAAAAGCAGCATCTTCCAAAGTTGTAGAGATGGGAAGAGAGATTAAAGGAGACTCTCACTGATTCATACAGGGGCTTCCATATTGGTTTCAATTTTGAGTAGTGATTTTTTTCAGTTCATATTGAATCCTGCCTTAAACACAAGCACGTGCACCAATATTAACAATAAACACTAGCTTAGATAAATTGAGTTCTTATTGTGTTCTGTGCACTATTCCAATGTCTCTACAGGGATTTCCTTATTTAATCCTCATATAGAGACACCAGGAAAATACTATTATTATCCCTATTTAATGGATAAGAAACTGACTTAGTGGAGTTAATGACTTGTTTAAATCATACTGCTGATTGTCCTATTCATCAAATTTATTGAGCACCTAATCTGTGAAGGGCTCTGTGGAATATGAAGATAGGAGAGGTCCCCTTGGAGCTTGTAATCTAATGGCAAGAAGTGAGGCACTTTTTGTCCCCTTAGAGCTTGTAATCTAATGACAGGAAGTGAGGCACACAAAGTATACGCCCTATGTGACAGATGGATGCCATGGAAAGAAAGCTTATTCTTTGTTATTCTTTTTCTATAAGTTTTAAGTCTCCAAATAAAACATCATCTTTCATGTGCATGTACCTTTAAATATGTCATTGCCTCTACTTAGACTGTGTCTTCCACTAGTCCTCTTCTCCCTTCCCCCTGCTTTTTTCCTTTAGTAACCCCTACATGTGCTTTGAGACTCAGCTCGGAGGTTATGTCTTTCAGGGAGGCACTCTTCAATCTGGATTGGTTGCTCCTTTCTGCATTCTTATAATGGTTTTGGAAACCCTACAAAGTAAAAGTGCTGGGCGTTCACCCAGGGTGACACAAGTACCAAGACCTTTCAGGGTTAGACCATCTTGTACATAGGCTTTGAGTGGCCTTGAGGTATGATAGAGTGCCCTATTGGAAGAAGTGAGGGTTAAACACTAAGCCCAGTTTTACCACTAGAACCAACTTTGTAACCTTCAACTAATTTCGTTTAACTTCTTTGGACATTATAAAATGGGAACAAAAATGGTAACCTTTTCTTTAGCTATTTTAAAATACAGCTGTAATTTTTCAAACGAGGTAATATATACATGGCTTGTTAGTATAACTTTAAGAAAATTTTAAGATAATTGGGAGCCATTCCCAATTATCATGACTATTATTTTCAGATCTTGACTTTGAAGGGATGAATCTAAATTATAAAGTAGGCAGCTGCAGATGAACAAAAGAACAAATAGAATACTCTGCACATTCCACTCTACCTATCATGTCTTCCTTTATTATAAATTATTTCAGAAGTGCTCTGTGCAATCTTGTTTCAAATATCTCAGATAATAATTCCCCCATCACTTGTGTGTGAGGGTCATCTCAGAGGTATATTAACTGCATGGAGGAGGACATCACTTTTATATTTTTGTTTTGTGAACAAATCCAGTGAAGTTGACAAAATCATCCCCTTTTCCTTTTACATATTTGTGAAGGACAGTGCACAGGAGATGTGACAATTTTGGAGGCACAGAGTGAGGTTCCAAAATGAATAATCACCTCTTAGCCCTCTGTGAACACTGCTGCATCAGGAACCTGTGTAAACAGATACACTTGAGGAAACACTGCCTTTTCTCTGCCAGTTAATAGCATTGTTACTGACTTAACTGGCATCCAAGTTTTTTCTTCGTTGTTCATTGAACCATTTTTTTTCTGTAAGATTTTCTAAAGAAAATGAAATGGAAAATAATAAGGTAAGATTCCCAAGTGAAAATGACTTTAACTTTAATAATATTTTCATATCATAAATCAGTGCAGATGAAGAAATAAAATAGTCAGTCTTTTATATGAAAGTGCTTTCTATAATCATCACCTGAGATGCCAAAATTGTTAAACTCTCAAAGTGTGCAAATAGCCACTACAATGACCTATATTTGAAAATTTGGGGATCTTTGAACAATTCAACCAACATTCTCTGCTTGGCTATTACTATATCAATAAAAATAATGCATTGCATGGATTATAAGTTTGTGTTTAAAACCTTTGCCTTCATAGATTTCAGGAGGTGAATGAATTTGCCTAAAACGTTCTGTGTTTATCACAGAGAACATGCAGTGTGAATCCCACATTTTGTAAAAGAGAAAACGACAAACTCTTTCACAGCACAGAATAAAAATGAAGAAAATGATACAAAAGTGTGGCTGCAGGTAACCCCGTTTTCCTGGGAAACTACTGTGGTTCTCTCATATTTATAAGCCATCTCTTAGGAGGAGATATGCAGGATGAAATAGTTATTAATTCTTATGGTCTAACAAAGAGAGGAAAAATGTCTCATAGGGCTTGAAAGAAATATCCTAGTAACTTACTGTGGAATTGGATTTCAGATAAGGTGAGTATGTCTCAGATCCCATGCACAGGTATTATTATTATTTTTTCTGAACTACTAAAATAATTTTTTATAAGTTGGTCTTGAAGCACAGAGTCCAAAGAAAGCATTAGATTTAACCCCTGTGTATAAAGAAGGAGTTGTGCCAAAGACATTGTGATGACTTTGAAAATACACAAAATATCATGTTATCTCCCTTGTCTTTCACCAGACAAGGTTCTATTTCTCAATCTTGTCTGTCCACATCCAACTAGACAACTTACATGAAATGCTAATGAGATCCTGAAAGAAATAAACAGTGCAATTTCATATTCAGTGCCAAAAATTGGTGAATTTTAAATTCTCTCCTTATCATATTGAACAATGACCTTGGATAAATTGCTCACTGCATCTCACGGTTCATTTTTGAAACACAATATAATGTGAAGCCAAGATTTCAAAGGTGCACACCTCATTCTCCTCCATCGCATGGCTCTCTTCTCAGAGAGAGAAATGGAAACATTGCTTATCAACAAAATGGACTGGAGTTGGCACAGGCGTCAGGCCTTATTTTCTATTCATGATATACAGTAAAGAAAATGTGCTTTGAACCAAGACAGAGTCTTAGGTTCAAATTCCTACAGTTTACTGGCTGTTTACTCCAGGCAAGGTGCCCAACTTCTTTGAGTATCGGTTTCTGATTTAGGAAACAATAATTCCTGATCTGCAGAGTTATTTTAAGAATATGAAACAGTGTACATAAAATGTCAATGATTGGAGTCACTCAAAAAAATGACAGCCGTTCTTATTTCTATCTATGAAAGTGATTTTGTCTAACAAATATTCATTGTGTGCCTACTCTGTACAAGGCACTGGGGCAGGCACTGAAGCTAGTAACATTCGAATAGAACATAATCACCATCCATGGCCTAGGAAAGGAAAAGTTTCATAAGGCACATCTCCTCCTACCTTATGATATGTGCCATGGTGGTTAATATTATGTGTCAACTTGGCTATGCCACGGTACTAAGATATTTGGTCAAACATTCTTCTACATGTTTCTGTGAGGGTATTTTTAGATGAAATTAACATTTAAATCAGTAGGCTGTGTGTAAAGCAGATTATTCACCATAATGTGGGTGGGCCTTATCTAATCAGTTGAAGGTCTTAATAGACAGAAGACTGACTGTCCTTGGGCAAGAAGAAATTTTGCCGGAAGACTGCAACATCAACTCTTCCCCAAGTCTGTGGCCTATCCTGCAAATCTTGGACTTGCCAGCCTCTATAGTCACATGAGCCAGTTCCTTAAAATGAATCTCTATCTATCCATTTATCCAGAGATAGATACGTATTTCCATATATCCATATCTATGTGTGTGTGACTTATACATGTACTTTTATATTTTCTATTCTAATTTATTACATTAAATCTTTTCTTGAAAAATAATTGTTGATTGAGATCCACTAAATTTGGGTTTTATGATCCACTAATAGGTAGTGACTTGCAGTGTGGCAAAACACTTTGAAAAATGATGCCTTTCCATTTAAATATTGCACCTACTTCCCACCCCAATTTTGTTGCATTTTATTCTTAGTGCCATAAAAAACAGTTTTAATCTACTACTTTTGAATAAATTATTCTAGAAAAATGTGCAACTTATCCTCAGAAGTTTTATTATAACTTTGTCCAAATTTGAATAATTACCACAGATAAAATATCCAAGGGCTCATTTGACCCTGCTTATTAATTATGGAAACATAAAGCTAAAAAATAAATTACCCTGGTTTTATCTGTTGGTCATGATGACTCCATAAGTTGCATTTCCAATAAAGCAAAAATGTTCCATTTTTTTGTTACTCCTAAAAATGAAACATTGGGACTTTTCTAGCCCAATGTTGTTAACAAATGTAGTATTTGTTAACAGAAATGTACATTTGAAAAGTAAAGTGAGTACAGTTAGCTTTCTGTATGTATGGGTTCCACATCCATGGATTCAATAAACCATGGATCAAAAATTTTCAGAAAAAAAAAGGGACAGTTTCATCTGTACTGAACATGTATATAGAACTTTTTTTGGTCATTATTTCCTAAACAATGCAATATAACAACTACTTACATACCATTTACATTGTAGTAGGTATTATAAGTAATCTAAAGGTGGTTTAGATTATACGGGATAATGTGTGTAAGTTATATAGAAATACCACACCATTTTATATAAGGATTTGAGCATTCATGGATTTTGGTATCTGCGGTGGTCCTAGAACCAATTCCTTGTGGGTATTGAGGGATGCGTGTACTCCCAGTGGCCAAAGCTGGAATGATTTTAGCAACAAAGTAAGTATATTGGACTATAATTTAAAGCACAAAATAGATAGCCACAAGTCCATGATGCTATAAAAATGATTGGATAAATACATAAATGAGAGAGAAGAGATTAATCTTCTTTACAAATGAATTCTAAATAATTTATATATAATAATTTATCAGGAACTAGAGCTTAGTTCCTCTACACCTCTTCTTATCCCTCACTTCAGCCCCCATTGAGTGTGGGCTGCACCTACTAACTTGCTTTCAAAGAGTAGAATATGGGAAGAGCTAGGGCATAGGGTAAAATCACAGTAGGGAGACCTGGCAAATACTGTCTCATCAAGGCGATGGAAGTTATCATCAGCAATTAGTCATATTGATAGTGTGCATTCTTGACCTGCTGTACTTAGAATGACACTGCATTTCTGTGTTTTTTCTCCCAAAACTCATGACTCCAGGATAGCCATGAGAAAGATATTGATCAAACCCAAATTGAGTGACATTCTGCAAAAACTTTGATCAGTGCTCCTTAAAACTGTTAGGTCATCAATAACAAGGAAACTTGTTGTTTCTGAGAAACTGTCACAGATCAGAGGAGGCTAGGGAGATACTGACTCAATGTAACCTGGACCATAAAAAAATATCATTGAGGAAAAAAATTGATGACACCTGAATAAACTGTTAGGTTGATATTATGATGACATCTGAATAAACTGTTAAGTTAATAGTAACGTACCAATGTTGATTTCTTACTTGTGACAAAGGGGTCCTGGTGGCATAGAACAATAACAGTAGGGGAAACTGTGTAGGGCTATATATAAATACTTTGTACAAACGTTGCCACTTTTCTGTAAATTTAAAACACTTCTAAAATAAAAAAGTGTTCTTAAAATAAAATAAATACAGTTACATGAGTCACAGGGAAATGTACTAAATGCAAATAAAAGAATGTAATTTGAAAGTGTCAGAAAGTAGTGGTTGAATATATTTGAATTTCTCTTGTTCTCCTTGTGCTCCTAGGGGAGCAATTCTTTGAGGTTTAATTGCCTTTAAACACTTATGAATTGTATATTTAAAGACTATTGCATATCAGATTTTATGCCACAGAAACATTTTATTGAGTAAAATTGCTTATTCTATTAAAATTAAATCATTTTATGGATGATATTTTTCAAAATCTTTTTGGAGATAAAAGGAAAATTCAAAAAGCAATGATGATGTGTTATTCCAAAAAAAGTACCTGTGATTTTTGTTTCAAAATATCAGGTGCTAATTTTCATCATATTTTAAATTTCATTTGAATATTACTCTTCTATTGTAAACTTGTGCTGAATTCCTGTTGCATTTTTTTCTAGGAGAGGGAAAAGGAAGAGTTAGCTTTGGGATAGGAGATCAACACTGTCTTACATACTTAAAGACTCTGCTTAATGACATCCTGAGAGTCATCAAGAAGGCTTGATAGAGATAACCAAGATTTATATATTTGATTTAGTTACATTCAATGTAAAATTATCTTGCTCTTCTGAGGCATTGAGTCTAGACACTTCTCATAATAGAAAAATCCTTATTACTCTATTAGACATGAATTACTTCAGACAGTTTTTTCCAAAGTTCCATTATCAGTGTTGTTGCTAACTGACTGCATTAGTCTAAGGATGCTAATTGCTATAATGTAATCTCCAAGCTTTTATGGCTAAATATAATAATGATTTATATCTCATTCAGGTCACAGCCAGTGCAGGTCATTGGGGGCAGAAGGTTTGCTCCATGTATCATCAAGAGTGAGGCTTCTCCCACCTAGTGGTTCTGCCCACTATTACACTGGCAAAAATAGACACATGGGAGAGACCAGGAGTGTTTGTCCAGGCCTCCATTGCAGAGTCCAGGGGTATGCTGGTAAGTGTTTAATAATCAGCAGTCACGGAGGAAAAATTTTTAAAGCCTTGATTTGTAGCAATTGCAAATTTCCATGGTGCGTATATATCTCCCATGGTCTATCAGAAGCTATTCACAAAATATCAGGGAACATGAAACTGGGAAAAGAGGTGCATGTTCAGCACAAGCCACTTTGAGTTGGCTCCAATCCACCACCAAATAGTCCCTCCCTTCTGCAAATAGACACTGAGGAGAAATTTGGATTAAAGCTTCTCACATTACACATGTATTGTTGTTGTATGGGATGGTTGCCATAATCAGTTCTGAAGACAGTACTTTGCATAAGTTTAGACTAAGGTGCTGTTTATATCATATCTGTGTGACTCATGTCCCAATCTGCATAGCAGTCTGTGGCAGACCTACTATGGAATAATGCTGCTTGATCAAATACAAAAAGAGCAAAAAGAGGAAAAAAGAAAGAGAAAAAATGTTTTCTTTCCTCATGAAGTAATAACATCTAAAATGAAGAGGAATGCCACTCAAATTAGGTGCCATTTTTGCAAGTTTTGATGGCAGTTTATATGGCCACTAGAATGGCCATTAAAGCACATTGCAAATTATATCACTGTATATAATGCTCCATAAAATAAATTTCTATGGATTAAGTCCAAAATTTCAGTCATTTGCTTGCAAAAATGGTCACTCCATTTAAGATACCATACAAATTATGTTCAGGCATTAGGAGCAAGTGGTTATAGCAGCCGTGTCATTAAGCCCATCCATAACTTTATAACTCAGTTTACATGCTGCATAACACCTTGTTTATAAATTAGTTTCCTGGCAAGAATTTGTAGACTTCAGGATGACCTTAAAATTTATATACTGATTAGGAAATAATTACATACCATATGTTGCAGGGAACATGAAAATGAAAGAAATCACACATAAGCTTAGGTTAGGACAAGTTCTAGAATATTTGATACTGTTCTTTTTGTTCACATCAACATAGCTAAGGAGTTGATCCTTCACCTTAAAAGCAGGAATGACTCTTTTGATACCCTACATACCTCCTTTCCAATCCAGTCATTTAAGAATATCAGGAATAAGGGATTGGAATTGGTTGGCTCATGCTTGACAGAAAAGTTGAGAAAAATAATTGCTAGAAGCTAAATGTAATACTTTCTTCTCCAGAGCCCCTTGACTCTAAAAAGTTTGAATACCAATAAAGCAAATTAAAAGGTGTAAATTATTCCTATAGTTCAATGTTTATGTAACTAAATTTCTTAATATTATTCTTTATAGTATTTTGTATATATCTAAACTTAAAAGGCCTGAGAATACCAAGAAATAGAGGAATATTCATCTATATTAATTCTTTTGTGTTCTACTTTCCTTTTTACTTTCAAATCTTTAATTAACCTGGGATTCATGTTGAAAATTATGAAGGTTAATTTTATGTGTCAACCTGACTGACCATAAAGTGCCCAAATACTTGGTCAAAGATTATCTTAGGTATGTATGTGAGGGTGTTTTGGATGAGATTAACATTTGAATCTGTAGACTGAGTAAAACAGGCTGTCCTTCCTAATGTGAGTAGGTCTCATCCCATCAGTGGAGGGCCTGAATAGAACAAAAAGTCTGAACCTCCCTTACATGAGAGGGAATTTCCTCTTACTTGATTGCCTTATGGCTGGGACATTGGTTTATCCTGCCTTTGGACTCCAGCTGAAACATCAGCTTTTCCTGGGTCCACTGACCTTGGGACTGAAACTGCACCATTGGCTCTCATAGGTCTTCAGCTTGCCAACTGCAGATCTTGGGACTTGTTAGCCTCCACAATTGTGTGAGCCAATTCCTTATCATCTCTCTCTCTCATGCTGTGTGTGTGTGTATAATAATTAATAGATATCTAATTGTGCACCCTACCCCATGATTTAGTCAATTGTTTCAACATTATGAAAATCTATTTTTTTGAGACAGTGTCTCACTCTGCCACCCAGGCTAGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAACAATTCTCGTGCTTCAGCCTCCTGAGTGGTTGGGATTACAGGTGCATGCCACCACTCCCAGCTAATTTTTGTAATTTTAGTAGAGATAGGGTTTCACCATGTTGGCCATGGTTAATCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCATACCCAGCCTAAAATCCTCTTTCAATATTGACTAAATACTCACATGTGTTTTGACTTGATTCACAGATTCATATTCTCTTCTATTAATATGTGACTATCTATAACTTTATCAGTAATACATTATTTAATTATGGTCATTTGATAGATGTTTAATATCTAGTAGTGCTTGTCCAAATCAATTTGAATATGTTTATGCTACTACAATGAAATAAAGATGGGGACTGGGCTGAAGTTAGACAAATAGTATGCTTTTCAACCTGAAAGGCAAAGACAAAGAGACAGCTTTTCGATCTTTTCCTTTCTTTTTTCTCTTCTTCCTGCCTACCTACTTGTTTGCCTTGACTACAACAACACTCCCCCAACTAACTGCTTAGACATTTATGCTCCTGGAAGCCCTGTTGGAAAACCATCTTCTTAGACTTTTATCTGCCATCCCAAGGTATGTTTTTATTCTTTGTGTTTTCACAAATCTTGGCAACAATTTAAATGGCATTGTTAATATCACAATTTACCTAATGCATTTTCAATGTCCTCTTTAATTCTCCCAAACCAGTGGAAAGGCAAGATGAAAAGAGATTCATAAAATTGCTGTGTATTATGTTACTTCCTAACTGAGTGGTTTATTTGCTTACTAAATGGTCCTACATTTATAGTCAATCGTCACCAACAGATAACACATCAAAAATAAACTTCAATTTCACATTACAGAGGAGGTGATTCCAATTTGAATGTTATTTATCATAGAGAATATGTTACTAAATCCAGTTTATGGAAAGATTATGCCATTTAATTTACTTTTAGAGAGAGGAATATGCTTTCACGAGAAACTGCATTAGCTATTAGAAAAGTAATGTAGCTGTTGGTCTGCACCACTTCCAGCAAGCATGGGTACATTGCGTTGACAAAAACAGCTGGATTTTTTTCTAGTGTGATCTGATAGAAAGAGCACTGGGCTGGTAGTCAGGGTTAGGTCAAGGCAAGGTTCTAACTAGCTGGGTGACTGTAAAGAGATAGTTACACAACCTCTCAGGGCCTCAAGTGTTTTATTTATAATATGAAGTGTCCAGATGAAATCTGGGATACTTATACGACCCTATGATCAAGAGGAGATGCTTTTATTGTCCCAGCTTCTCTAATATCACCAGGGAAAGTGAAAGTGGCTACAGTAAAGTCATTATATAAAGAACAGGAGGAAGTAGAGCTTCCCCCTCGGCCAACTGCAGAGATGTGAGTGTATGTGTGTGTGGTTGGGTGCAGGGAGGGAGACAGTGGTACCAGTTTGAAGACTTACCAGCTGAGACTTCATGATATTTAGAGTAGATGATAACATAGTTAAAGCTCAATTCAGTTTATAGGAATGTTACATTATTCAGTTTACTTTTAGAATGAGAATTATCCTGAAGCTGTAAATTCCTTGGGTGCAGGGACTGTGCTTTGACCACTCTTGAATAGTGACTGTGCATGGCTGAACTTGTGAATTTTGACTGACGACGGCTCACAGATTACCCTGAGCAGTCTCAATTTTAACCGTTTTATCCTATTAACAATTACACAAAATCATATTCGGTCTAAGTAAAAGAGACATGAAGGGAGGCTTTTGCTTTTATGTTTGAACCATTTCCACTGTTCATATCTCCTCAACTTGAATGTATAAACCTTTAATGTCTGGTTGGTGGGATTATGAGCCATTTTAGCTTTTCTCTTTCTGGGGCTCAGAAAATGATACTGCAAAGTATGACACTTTGGCATGCTGAGTACTTTGAACAAAAGGAGATTGGAAGGTCCAGAAGTAGCCTCAGAAACAAAGTCTCTCTCTGACCTTCTCTGGCCCTCCATTTTCCCGTCCCTCCATCTCCCCTAAAGTGAGTCATAGAAACCAGAATTCCTCTCCTCCAAGTTGGGTCACAGATACTAGAACCCCTCTCCCCTAAAGCAAGACATAAAACCTAGCAAGGTCATTCTCTCCCTTCTCCCTTGAAGACCCTCATTCCACAGGGGTTCTGCCCTATACCTAGGAGGGAGGAATGCTATGCAGAGAGACCGAGAAGAATCTGGACATACAAGCCTTGCTGGGTTTCTCAGTCTATTATCATTAGATCAGACCCTTTTGTCAATCACATTGCTACATGGTTGTCCATTCTTCGTTGAAACTAAGCATAAAAGCAGACGGTTTTCTCTAGGTCTTTGGATCTTCATTTCTGAAGGCTCCTGTATCGCACAAAACTTTGATTAAATAAATTTGTTATGTTTCTCTCTTGTTAACCTGTCTTTTATGATAGGAGTGCCAGCTGTGACCCTTATGATGGGCAAGAAAACGTACCACACTTTCTACCCATATACTCTATTTCTTTATATTCAAAATAATAACTATTAATATTATATTATAAAAATTTCATTCTGTTGTCAAATCATGGGTCAACATTAAGTCTTGATTTTAGTTCTGAGAACCTGATTGCCCTTTTAAGTTCGTTACTGAATATAAAGTTCTATGCATTTAAATAAAGGGCACCACTGGAAGCAGCAATTACTGCATACTACATTAAACAGGTTTTGGGAGATTTAGGAGGGACAATGCCGATTACATCTGATTAATTCTGGCCCAGAGGAAAGTTTATGTTTTTATCCAAGAATAATTCAAGACCTCCTTCACACTCATCAATCATGAGCCAAGTATTATATCAGGTGCCAGGTATATAGAAACTAAGATAAATGTAGTCAAGAACTTCATTCTCAGGAAAGTCTGATCCCATTAATTATTCTTTTTCCAAATTGTGGGGAGTCAAAATTTGTGCATCTTCATGTATCTGCCTGCCATTTCAAGCTGGATCAATTTGAAAGTGGGCTTTAAGGAGCTTGTCATACTTTGATTCCCTTTCCCCACCTACAGGCACCCCATTTGGGCCTGCTATCTGAAAAACGACCTATCTCTGAAGGTCTCTTCATTACCGTCTGATATGGTTTGGATCTGTGTCTCCACTCAGATCTCATGTTCAATTGTAATCCTCAATGTTGGAGGTGCAGCCTGGTGGGAGGAGATTGGATTGTGGGAGTGGTTTCTCATGAATGGGTTAGCAACATCTCCTTGATGCTGTCCTCAGGATGGTGAGTGAGTTCTTATGAGTTCTGGTAATTTAAAAGCAAATTTCTTCTGCTAGCTTTGGGGCTGGCTTGCCCTTTTTTTTTTTTTTTGTAGTTCCTGTAAGTGTGATGTTATAATAGTTCAGTAAGTTGAAATCTTTCTGACATTTTGATGCAAGCATTTAGTATTGTAAGCTTTTCTCTTACCACTGCTTCAGCCTTGTTCCAGAGATTCTGATATGTTGTATCTTTGTTTTCATTAGTTTCAAGTAATTTTTTGATTTCTGCCTTAATCTCATTGTTTACCAAAAAGTCGTTCAGAAGTAGATTTTTTTTTTTTTTTTTTTTGAGACAAAGTTCCGCTCTGTCACCCAGCCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCTACCACACCAGGTTAATTTTTGTATTTTTAGTAGAGGCGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTATGCCCGGCCAGGAGTAGGTTGTTTAATTTCCTTGTAATTGTATGGTTTTGAGCAATCTTCTTATCATTGGTTTCCATTTTTATTGTGCTGTAGTCCAAGACCGTGGTTGGTATGACTTCAGTTTTTATTTTTTTTATTTTTTATTTTTTTAAATTTGAATTTGCCGGGAAGTTCTTTATGGTCTAATGTGCAGTCAATGTTAGAGTATGTGTCATGTGCACATGAGAAGAATGTATATTGTTTTTGTTGGGTGGAGTGTCCTGTAGATGTCTCTTAGGTCCTTTTGGTCAAGTGTTAAGTTTAGGTACAGAATATATTTGTCAGTTTTCTGCCTTGATGATCTGTCTAATACTATCAGTGCGGTGTTAAGTCTCCCACTATTATTGTGGTTATCAATTTACTTCGTAAGTCTCTGAGAACTTGTTTTATGAATTTGGATGCTCTAACACTAGGTGCGTATATATTTAGGATAGCTAGATCTTCTTGTTGAATTGCACCCTTTATCATTATGTAATGTCTTTTTTTTTTTTTATCAGTAAGGAATTTAAGGACAAAAGGGAAACTAGTGGCTATGATCTATGGCAGTTCTGACTCCCTTTAAAAGATTCCTGGAGTGTCACAACTTGGAGATACCTTGGTCTATACCTTTCCTTTTACAGGTGCTAAATCCGAGTCTCATTGTAGTAAAATGACCTGCCCAAAGTTCTTTTTCTCAGGGGAGATCCCCTGCACACTCTGCCTCTCTTGCAGAATTATGCTTCTCTCCTTTGTGCTCCTGCAGCACCTTTTACGCCAAATGCTGGACCTGGGATCCCTCTGTGGCTTAACGTGACACTTAGGTATTTGTGTTACCCACCTAACTATAGACTGTCTGCTCACAGAAACCACATCTGAAAACCTGTGTTTGCCATAGCACATGAATCCCCATATTTCTATAGCCAAGAAAGTTTATTTTATGGTTATTTAGGAAGTCTTTGGAAAGCCTAAAATAATGCTATCTTAATTTAGAGAATTGCTTGGAAAAGTGGCATAGGCAGTTTCTAGGAAGAGAATTGCATGTAACCCTTTATGAGGCAGGTGACTCCAGAAGAAGACATCCGTTACCCTCTATCCTCTGTCCTTGTGCTGTTTTTTCTCAACTTGCAGATTTTCTCCCTCAAGGAACTATTCAGGTAATGATAATGTGAATAATACCTTATAATTGAACAGACATTTTTCATAAAGAGACAAAAAACTTGCAATGGTTATTGAGAATTGGATGAAATAAGTCACCCCATCATGTTTGCTGCTTTACAATTTCAATAGCTCCGAGCAAGCAAAGCTCTTTGTTGAAATATAATACAAATTGCAAACAAGCAGCAGCAGCAGCAGCAGCACAAAAATCCCCCCAATGTCAGAGAGACACTGGCACCGCCAGGAAAAAAAAAGCAGTTTCTCAAGCTATTAATCTAAATGACAACTACAATCTCCCTTGAAAATCCTTACCCAAATAAGGATTGTTTTAATGCTTAAAACATTAAGCAAAGCACTCTTCATATTTATATATGTTCTGAATCCTGTAGGTCTATTCTCAATGGAATTTCCATTAAAATAATAAAATCAGTTTTAAGATTATATATAGCATGTTTATACAATTAGCATTAGTAGTAATAATAATTAACCCTTATTGAGAAATTACCATGTGTCAGGCCCTAACTGACTTAACCATTACAACTCATTACATATGTACTGATGTTATGCCCCATTTCATAGACTTAAGAGATAGATGCAAAAAAAAAGGTAAAGCTTGCCATAACTTGCTAAGGCACATGACTTATATGTGGTAAAGTTAGGAGTTGAATCTAGGCCAGTATTAGACAATCATGTTGTTTTAAATTTTGCAGTATCCACATTAAATGAAAAAGAAATGGGAGGTGATATTAATTGTGATATTTTATTTAAGTCAATATAACCAAAATATTATTAATTTAACATATAAACAATAAAAATTATTAATAAGATATTTTACTTTCCTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACTTCCGTCTCATGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCCCAGCCTTACTTTCCTTTTTTTGTAATGAGTCTTTGAAATCTGGTACATATTTTGCACTTATTGGATATCTCAATGTGGGCACTCAATTATCCTTTGAAATACTTGATATATTTTGATTTTGTAAAATTTATTATTGAAGATGTAGATTCACATACCCCAATTTTTTCAAACATACTTGAATGTTTCTAATAATTGAATTGAGTATCTTTAAAAATTTATGTGTAATTAAATTAAATAAAATTAAAAATTCAGCTCCCCAGTTACACTAGCTATAATTTAAGTCTTCAACAGTCCCATTTGGTAGTGGCTTCCATATTAGACAGCACAGACACAAGTTGTCTTCATCGAGAACCCCTGCTTCTCCAGCCTGGGCAACATAACAAGACTCCATCTCTTCCAAACAATTGAAAAAATTAATTGGGCATGATGGAACACACCTGTTGTCCTATTTACTCAGGAAACTGAGGGAGAAGGATCTCTTAAGCCAAGGAGATTGAGGCTGCAGTGACCTAGGATTGTGCCACTACACTTAGCCTGAGAAACAGAGTGAGAGCTTGTCTCAAAAAAAAGAACACTTGCTCTTATCTAATAAATAAACAGTTAATAAATAGCTATTGAATCAATATTGAACCACTATGCTATGCTGTCTCAAAGAAGACAATGAGAAGGCACCATTTAATTGCATTCAGTGTTCATTTGACATTTATTTGTCAGAACTAATATCAGCTGATATTAATGGTTAAAAGTATAGGTTCTAGAGTCAGACTGGGCTGGGTTCAAGTCTCGGTTTTATTACTTATTAGTTAAGGAGTCTTAGTCAAGATAAAGAAGAAGGCGTATATCTTGCTAACCAAAAGGAACAGTCCAGTGAGCCTCCCAGAAGAAGTTCTGATCCAGGTGACTATTGCACAAAATGTATGAATAAAACCAGAGGATGACTCCTTAAAAATACCATCTCTTTCCTCAAATCTCATGCCCTTAGCATTTGCTACCCTGATGTATATTTATCAGCAGGACTTGCAGGTTCAACACTATCATTGGCAGAATGGTCTTAGAGTAGGCATATAAAACAGAAAAGCAGGCGGACTCTGCTCCTTGCTTAGCTCTGCTATTGAGACATAAACCTGTACAACTTCTGAGTCCTTGACCTACTTTCTCCTTTCTGTCTCTTCCCTGTATGCAGATTGTGTGAGTATGCAAATGACTCTCAGTCCCAATTCTAGCCACAGCCCTTATCAACCCTTCTTATGTAGACTGCCCAGGTCTCAGAGAAAGCCACCATATCCTGTGAGCACCAATAATTTAGGATTGCTGAATTTCTCCTAAAACCTACAGATAGATGGATGGAATAGCAAAGCTCTCATGTGCGTGAATCATATATGGGCTGAACCTATGGGAGGAGACTCACTGGCATATAGACTATCCTAGCAAGTGTGTGCATCAAATACCTCTAAGGATACCAATCTAGAAAAGGAGTTTCCCCTACGGAGAACAAGAACCTGAATGTTCATAGCTCAATGGTATTGGCTTCCACTGATGTAGTGCATGCTGTTTCTTGGATCTCCTCATGTTTGAAGGTAGAATCTTTCGCTTGGTTGCTTGGATCTTGCTTTAATAAGATCCTTATACTAGATCTAGTCCACAGAGACTGCCTAGATAGCCTACAAGAAGAAAGAGAGAAGGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGATTGATTCTGTACCTACCGGATGATAAATGTAACATCATAGGTAGCCGCCTAGAGGTACATTAGTCCTTTATTCAAAGGAATGCATTTTGAGGTAGAGTGTGTGTATGTGTGTGACAAATGTGGCATATGGAAGGTATGATGTCATATTAATAGATAGGTTTAGTCTATATGAGCCTATATAATTGTTTCTCGTATATAATAATCCTATTAGCAATATAAGCAATTTGAAAGGGTACTTCTGATAGGTTTCAAGCCAGTGGAAATAATCTTAAGTGATACACTGTTAGTCTTTGACCCCTCCATACTTTTGGTTGCTTCTCATCAATGCCAAGTAACTTTTGGACTTGAATAAAATGCCATAGTGGGGTCACTGTACACTGACTCTGATATCCTGGGGGCCAGATGATGCAACTCAGAAGCTCTGGCAAGTTAACCCCTCCTGTGGGGAATCTTGATCAAAGGAAAAGAGGAGATGAGAGGAGCTCGGGCAGATAAACTCCCTTCCCTCCTCTCTTTCATGGACCAATACAATGTGTATTTCTTCTCTGCATATCCTGCATGCCAAGAATACATACCTGCAGAGTGGCTGGCTATGTCAGCAGCTTGTTGTAAAGCAGTAGCCAGTGTGGTCACGTGGCACATTGCATTGCTTTGCATCTTTGCTTCCCTCACTTCTGGTTTTCCCTCATCCTCACTGCCTGTGGCTTGGTTCTCCCACATAAAGAGTTATTGCCTTAACCATGCCTCAGGCTCTGTCTTCTAGAGGACCTGAGCTAAGACCTAATATAATGTTCTGCTCCCAGTAAAGGTGGCACTTGGAGTTTTCTCCTCTATACTATGAGCCATTCCAAACATGCCCTCATTTTCTTCACAAGCTTTTGGCAGAGCTTCGGTATACTGTGATCTTAGATCACATAAAAGGGTGGAGATGGGTAACAACCTAGGCTGTTTTGTGGGAACCTGCAGTGGCTATGGGGAGAGAGAGGACATTCTGATTTTTCTGTTCATTCATTCCATTTGGCTTCAATATAATCTGGCTGCAACGACATTAGGGAAAAGCAAGATGGAAAGGAACATCCATAACGAGGTACAAAGTATATGAGGCACACTGTGTCCCTAAGTAACCTCACACCACACTTCAGAGCTGCTAGGTCCAGCTTTTTCTAATAAAAGTGGAAAGAGAATACCCAAAGCCATATTTCTGTGCTCTGTTATGAAAGCTCCCCTAGAGGTGTCACAATCAGACTGTGATTGTCTTAACCACTGTGAGTGACCTTAATCACTATGAATGACCACTATGAGTGACCTATGATTGTCTTAACCACTACGAGTTTTCATGGTCCAGGCACTTTTAACATATATTGCCACATTTATTCTTCATAACAATACTACAAGGTAGACCCTAGCATTGTTCTATTTTCCAGAGAAGGTAATAAAGTCAGAGTGCGCTTAGGTAACTTACCTACATTTATTCAGCTAGCACAACTGATATAGCCAGGATTCGAACCTAGGTCTTCAGATTAACAGGGTGGGAGTGGATAACCACCAGGCTGTGTCCTCTATATTATATTGCTATGAAAGTGTTGTTCCCAAAATGGTGCAGCTGCTTTGTGTTTCTCTAACTTATGTAAACTGATGTTCTCTTTCTCTGAAACACTTCTTTTTGAAGACCTGGCACAGTCAACACCTGCTCTGGGAAGGCTGATGCACCTCCCAGTGTCTGGCCTTTGCCCCATTGTATGAACCCCCTCTCCCCACAATCCCCTGAGTATCACCAACTCCAGTCTGTGTGTAAAGAAATATTTATATAGATGGTTTGGGACCATAAAGGAATTTGTGCACTTGTAGAGGTGGCAAAAGGTATTGCAGCATAGCCAGAAACGAATATTAGCTACAACTGTCCTTAAAAGTGTCTTGGCCATTCCTGATCTTATGCTCCCTTTGCACACAGCTCAGGCAATACTCTATGGTATTTCTCAACTCCAGCAACCACCCAGTAAATAGTGTTTCTTTCTTCCACGTGGAAATGTCATATGGAAGCTCAAAATTTGTCCTTCTTCATTGTGCAAAGCATTGTGGTTCTTGTGGCTAACACGAGGCCCACATCAGGACTATTTTCCTTCAACCAAAATGGCCCAACATACTGTATTTTTCTAAATAAAGTTCATTTGCTTTTCCTTTAAAAGGAAATCTGTTTTTGGTTTTTAAAGCAACTTTTATTTTTCTCCATGCTACGGATGAATGAATGAAAGCATACGTGAATGATCAAATGTGTAACAAGGTAGATATTATTACTTATTGAAAATTCTCCACGAGGATTTCTGGTAGAAAAGTGGTCAGCTTGAGAGAACTAGACTGCTGAGGCTGTTCAGAGGTCTTCTGTCTGTGAGGAGTCAGTGGGGACCGGGCTTGGAGCTTCCAGAGGGACCCAGCATGGCTGGTGAGTAAGAGCAGAATTGCAAGGGGCCACTTCCAGTAGGAAAGTGGCTATAGACTAGGGAAGGTGGAAAAACGATACCTGCTGTGCAGAGTGTGAGAAATGAGGAAGAGGAAAGTTAGGGAGAAAACTGGAGTGTGAGAGAATTGGTTAGAAGGGGAAAGAGCTTTATATTTTAGTAGTGTCTCCATGAGTCATAAATTAGATTTCCTTTAATATTATTTAAGTGAACAGAGGCTGGAATTTTATTTAATTTCTTTATTTGCTAGAGTGTGTATGCATGTGTTTTAAGGAAACACAGGCTTGAAACTGAATCCTGTTGGGCTAAATGATTTATTTCATTTACAAAGGAAATGGTAGCCAGGAAAACTGGGTATATCATATATACATCTTATAATTTTGTGCAAATTGCATTACTTCTCATCACATCTGTAAAATGTGTCTGGTGCCTACTTTACAGAATTACATGAGGATTAAATGGACCACTCTGCAAAGTACAGATTATCAAAATAGTCCGACACTGGTATACTTGGGAAAAAACTCTCTCTCAGACTGTGCAGAAGTATTAGGCACTTTAATATGTGTGTATATATTTATATGTATGTATGTGTATATATGTATTTTTGTATGTGTTACAGGTATGTGTGTGTTTAGTGTGTGTGTTTTATGTGTGTATATACACACACACATATATAAACACACACAAAACACACATACACACACACATATATATACATACACTCACACATATATGTAAGGTCCTCTGAGCTGGCCGCACCACAATCAAGCCATCGTGACGTTCCTGCGCCCTTGTGAATGTACTGTGTAACATTCCTCCCCACCCTTGTGACAATACACCCTCCCTGCCCTTGTGAATGTAGTTTGTAACATCCTCCGTGCCCTTGAGAATGTACTTTGTAACATCCATCCCCTGCCCACAAAAAAAATTGCTTCTAACTCCACCGCCTATCCCAAACCTGTAAGAACCAATGATAATCCCACGACCCTTCGATGACTCCTTTCTCGGACTCAGCCCACTTGCACCCAAGTGAATAAACAGCCTTGTTGCTCACACTAAGCCTTCTCAGGTGGTCTCTTATACGTAACAACATATATATATATACACACACACATACATACATATATATGCGTAACAACATATATATATATACACACACGTAACAACATAAATATATACATGCATACACACATATATATATACACACACATATACATGCAGTATATTACTTTCCCAAGCCCAGAAGTTCTGTTCCTTGACCCTGAACTCCGTAAATGTAGCCAACTGATTATGTCAATGCTCTGGGGTGCAGTGTACCATCCCACAGGGCAAATCTCACTCTAATCCAGCTCATAGGGCATGGACATATAAATAAGAACGACAATTAGTTAATTCATAATGCCAGTGGTAGAAAATCCTATCTTACTCTGAGAACAGTATTGTCTTCTGCAGATAAATTAACATGAGAAGTTGATTTATGACGGGATTTATGATGTATTTATTGGGTACAGAGTGTGGCTCAAGTCTTTAATGATGTCAGGCTAAGATGGCTAAATGCTCAGCTCTACCTTAGGGATATACCAGCTGTCAGGACTGAATGGCTGGATTCCTTGGTCCCATTATGGAACAAACACTAACATTTACCCATTGACTTCCATGGTTCCATGCCCCAGAGACAGTAACCCTCTTTTTGATGATCACATACTTTTCTTTTTTTTTTTGAAAAAAAAAATGTATTTCATTTTTAAATGACCTCAATTACACGCTAATAGAATGTGTGTATCTGTTGGATACCGTGCACTTTCTCAAACCTCAGAATCAGATTGGACACTGCCACTCTCATTTTCTGTCCCACAGTGATTTTCACAAAGCAATTGTTTTTTATCAGAGCTACTGCATAAAAACCAAGTTTGCAAAGATATGACATCATCAAAAAGAATGTAGCAATGTTTATTGTTGAAAGTGTGGATCTCCAGGAACTAGCAGTTGACATTGTTTCTGACAAATTGCTGGTTTCCTCTAAAATTTAAAATACCCCTCTGCACCCATATGAGTTTGCTGTGCCTTCCCAGGGTTCCATGGCACACACTGTCTGGGAATTGTATCACATTCTTTTTTTGAAATAATGTTGAAATTACTAATTAGGTTTTAGCCAAGTTCTTTTCTCTTCTTCTGAAATTTTGCTTTAAATTGCTTTTATCATATCTCTCTTATCAATTCTGGCATTTCAGGATTTTCTTTACTTCCAAGTTGGGAATAGAGGCATCTACTCTATATTGTCACATAGGTGGAAATGAAAAGGTCATAGAATGGGCTGGACTTAGGAGACCCGAGACCTATAGCCTAGGAACCTACACAGGGATAACAGAGCCATATGCGGTGGTGGTGGTTTGGGCTTGGGGTTAGATATATGATGATTTGTTAAGAGGAGGCAGCTGTTAAAGGTGTGTGATCAATTATTGTTTCATTGATTTCTCATTAATGAGCCTTCACTTTGTTTTTGTTTTGAGACAAAATGAACAGGCACAGAAAAAATAGGTAAGATCTTACATATCCACTTAGTTCATACTGGGGGTCGAATAGGGCAAGGATATTGCAGACAGTTCAAACTTAGTTGATCAAGGAGGACTAATGGGCAGCCCTTTCTCAAGTTTGAGAGATGAAGAAGGAATTTGTGGGCTTCATTCCTTAACTTCCTTCCCCTATTCTATCGGCAGAGACTGACAACTCGGCATATACAAATAGTCTTCACTTAATGTCATTGATAGGTTCTTGGAAGCTACGATTGTAAGTGAAACGATGTAAAAGGAAATCAACTTAACATAGGCTAATTGAAATAAACTAGAGTTAATTTCCTACAGCATATTTCTGGTCACAAAATCATCACCCAACCTTCAAAATAAAGACCAAAACACTTCCAATATTAAACAATGAAATAAATGTGAGCTACACTTTTAAGAAAGATTAATACAAACAAGTCAGATAATTACTTGCCCAACTGTTCCAGTTCAAGATTGTAGGTGGTGACCTACTGTGGAGCCTGTCCTGGAGGTTCAGGTAAGAACCAGTCCCGAACAGGATGCCATCTCATCGCAGAGAACCCTCACACACACCCACACCACTCATACTGGGACAATTCAGACATGCCAATGGGATGCCAGTGGCACGGCTTTGGGATGTGGGAGGAAACCAATGCAGACATGAAGAGAACACGCAAACTTCACACAGAAAATGGCCATGGCTGGGGAATTGATTTTTTTTTCTCATCGAGGTTATAGCAAAACATCATTGAACAGAACAATCTTATATACCTGATGTATAAGTGCTTTTGTTTATCCACATTTTTTGCACTAATTTTCTCTATTGGATCACTCCCATCAGCAGGCAAACATTCCAGTTTTCTATTTTAAAATTAACTTCTCTTATGAGTCCACTTTTTCCTTTAGTTATGGAACCAACCCAAATGCCCATCAATGATAGACCGGATAAAGAAAATGTGGCACAGATACACCATGGAATACTATGCAGCCGTAAATAGGAATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGGAGTTGAACAGTGAGAACACATGGACACAGGGAGGGGAATATCACACACCGGGGCCTGTTGCAGGGTGAGGGACAAGGGGAGGGATAGCATCAGGATAAATAGCTAATAATGTGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGAAACCATCATGGCACCTGTATACCTATGTAACAAACCTGCACATTCTGCATATGTATCCCAGAACTTAAAGTAAAAAAAAATTCCCAAACTTTTCACAATAATCATCTTGACCTTTCCCTGAATAACCATCATACCACCAATCCAATGTGAATTACATCTTTTCTTAATCTCTCAGTGTCATTTGGTCCAGTTGATCACTCCATCCTTGAAATGCTTTCGTAACTTAGTTGCTCTTGGTCTACCTTGTCTACCTTCTCCCTCAGCAGCCACTTCTGGATCCAGATTCAGTCTGTTCCCAAGGAGACCATGGTTGGGGCAATAAAATCTAAGGACTTATGGAAATAAAGAAGAAAATTTAAAGAGCCAGGTTTCTCATGTGCTTTGTTTTCTTATTTCTCCAAATTAAATATAAGTTCCAGTCATGCAGGGACCTTGGTTTACTTGTTCTTCTCAAGTTACTCCACCCCCTAAGGACTGTGCTCAGCACACTCTAGGCATTTGAGAAATATGGTTGAGTTAATGAATGTGCAGCTCTCCCAAGAAATTACTTTCTGTCTTTGACTCAAAAGACCAGAAGAGTTTCTTCACCAAAAGTCCCTTGGAATCTTTTATCACTCTTCCTTTGGCATATTCATTTGCTGGTCTGGAGATGCTGCTGATCTTGGTTCCTTTTGTCTTTCCGTGACTGCTACTGGATTACAATGTAATGCTTTTGGCCAGATGTGCATTTTAAGCAGCCCCAGTAATACATATTTGATGTTGGATTAAGTTGTTCTGACTTGTAGTCATAGTGGCAGGAGCTTTTCTGCTGTTGCCTGCCTTCTGAATATGAATAAAGTGTCTGCACTTTTATTAACTTATAGCAGAGTTATGTTTAACCACAAGAGGAAAGGAACACACCAATTATTCTCTTGTGCAACATTAAGGAAGCATGAATAGAAAACAGCTTTGTGGCATGAGTGACCTGAATCCCTGAATCGGTCTCTGCACACAATGTTTGAAAGAAAGTCATAACTATGTATTCATTAGAGGGACTATAAAATAGCAGAGTGTTAAATTTGTGACCAAAAGTCTTTGTTACCAGTGATGTGGGGTTTATTATCTATCATAGCTAGTCTTATTAATTGGGAAGCTCTTTGCAGAAAAAGAAATGGATTCCATTTCTAAAACTTGCAATTATGAATTCCGTTAATGCTTTCAGCCATCCAGATATTTATTTATACATGTCACTCAATGGGGCAATTTGCAATTCTGGGTAGATTTTGTGACTTAAAGCAGAGTGCTTGTTCTCTACAGTTCAGTAATTCTCCACTTCTCAAAATGGGACAACCACAGGTTTATCCATCTGCTTTTTGTTAAATGAGTCCGAGATGAGGAGACAAATGCTGTATGCTTTTGATAAGACAGGCATGATTCCATTAAAAATAATCTTTTGAACTCCTATTGAGTGGAAGACACCTGAAATAGAGCTTTTAGGGGAAGGGGAGGAGGATGAGTAAGGTAATTCTTGCTATCAAAGTTTGGAGTGACCACAATGATGTAGATAGTAAGTTCTTTGGGGGAATTCTTGAACTGATTTCATGAAGTAAGATTTGTGAACCGATGGCATAGGTCTGGAGTAGACTCTAAGGCCTTCCCCGCCGTACCACTCTCTCAGGGTCTGGTTTTGTGGATGGCCCACTCACTGTGCAAAGCTGCATCTGCTGCAGCAGTTCTGGTGCCACATAACATAACCCAAGGACAACCCAAGGGATTGTGTCCTCAGCCCTTTCTGTTCTACTGACTAATCTTTAGCATATTGTAGACCTTTTAACAAAAATTGCTATTCATAACATATGTTTAGTTTATAAATTTCTTTAATAGAACATTTTAACATTGTTTGAATGGCCACAGGGTCTCATATTACATACTTTTGTTTCATTTCATTTTTCCTTTTATTTTCCCCCGAAAAGGAACAGAACATTGAAGTCTACTTAGAGCCAAAGATTTGGTCCTGGGCATTGTGGTTGCAGATACTACCTTTATCAAATGGCTCCCTGACATTGGCCTCCCACTTTTAGACTTGTATGAAATAACAAACTCTCCAAATTATTTGAAAATAGCCACAATTTCTTTTACAGACGTTTATTGGCAATTGGGCTCTCTCCGTGAAAAGGGAATATTGAGAAATGAACTTCAATGCTTCATTTTATTGTTTACTTCAAGGTAAATAACTCCATTTGGAAATTACAATGGTACAAATATAGTGAAGTTAAGCTATGGGTCTTACTCTGACCAGGGTTATGTTGACAAAAAATTATGCTTTTAAAAGCATTGCTGTTGAAAAGAAGGCCATAGTAGCAGAGGAGTCTGCTTTTATATAAAGAAGAGAACATTAGATTTGCAGTCAGATGACCTAACATCTTTGTTCGGGACCTTCAATTAGTAACTTATTTTTTCCAAGTTTCATTTTCCAGTGTACAGGATTGGTGCGAAATAAAATTTAAAAAGTATTTGAACATATTCTGTGAAGTTCTATGCCAGTATGGAGTTATACATGGGCTATCTTAATTGGTTTAAATATATCTCTCTAATATATGGCTTCAAAAACTTCAGCCAACTGAGATTGATTTCATATGATTTTTTAAACATATAATTTTATTGAGGTGTAGTTAACATACAGTAAACCATACATATTTGCTGTAAAGTATACAATTTGCTAACTTTTGAGACATAGACACATCCATTAAATCATTGCACCATCACTACACATCCGTTATCCCCAAAGTTTCCCATGCCCATTTATAGCAGGGATCTCCTTTTTAGCACCTCCCTCATATTCTTAGATTTGGAAAGTTTGTATTGTATGCTGGTTCCAGCACCTTTGATTTTCTAAATTATGTTACTTTGTCCTGTGTTTTTTAATTTGCCACAGATCAAATAATGACACTGTTATTCATAATGTCATAATAATTTGTCTCTCTCTGCCATAGAAGTTCCAGACAATGAGTTTTATCCTTTTCAGTGTTGACAGGGGTCCTATGGTAATTATGCAGGTGACTTCTCTCAAAGGACATTTAATAGAAAACGGGATGATGCTGAGCATGTGAAGATAGAATTGACAGAGACCTTAGTACATCCTCTCATGTTTTACTCTCTAGATGTAAAGATGCTTCTTTATGTTAGAAGCAAAGAATGATGGTTGATTATAATTTCTAAAATCACCCTGCTAATTTTAAGAGGGAATAATAACCACTAACTGGAAAAGCCTTATTTTTTTTTTTATTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCACTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCGGCTAATTTTTGTATCTTTTTTAGTAGAGAAGGGGTTTCACCATATTGGCCAGGCTTGTCTAGAACTCCTGATCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGTGCCCAGCCTTATCTTTAAAAAAATGTCAATTTGAGCATTATGAAGGGAAATACAAATTCAGCAATAAGATCATATTTATTAAGTTATGAACCCTAATGTTTTATGGGAGTTTCCTTAATTCATAGGCTACTTATGTTAGAGTAGTCAAAAACCTGGGCTTTGGAATCGCATAGATCTGAGTCTTACTAGTGCTAGTGCAAGCCTGGGCCAGTGACTTAATTTTTGTGAGCCTTGATCTGTTCACCTGTAAGATGAGGATACTAACAGCACCTATGTCATAGAACTGTTGCAAAAATTAAATTGGTTGATGTGTGCAGGCCTAGCTCAGGACGCAGAGCAATCATTTCATACATGTTATGAAGATGAAGATGATTATCTCACTGTAAAATGTATATCAGCATACAGCAAATATATACGAGATTTTAGTCTAAAGGACTTTCATTAATTAATCAAATATTTATTGGTACCTACTATGTCCCAGTTCCTTTCTAGTCATGGATGACTAAAAGCACTCAGATTCTTTCATCTCAGGGCTATGCTCTGGTGCTACAAAGGCCTCAGAATTTGTCCTCGTTCCCTATAAGACCATAAGTGGTTTCCCATGGGGAACTTTTTGGGCAGTGTATAGATAGCTCAGAGGAAACTGAGAGTCTTCATGCTTTAGCCTGAATTTGTTTTATCTATCATCCCTTTCCCTGTGTAGTCTATGTATTATTTATTCCAAATAGGAATTTCATCAATACCAATCACATTTAGAGGCAATTTTCACACCTAAGCTGGGCCATTCTGTATGAATGAAGGAATGCAATTAAAAGTCCAGAGCCAAAACTCACCTAAAATAGCTGTTGAAGTAGTGTAAAGTGTTGTAAATCTTTCAAGCCCCTGCTCCTGGATGGTTTGGGGGACACAGGGAGGAAGAACCAACTGAGCACTTGATCTGATCTTTGGAGAGAAGACAATTATTGCTTATGGTTAAAAGAGATGATATGAGTGTGAAAAGGGACCCCAAAAACCACACCCACACATTGGATGGACAATTTTAGTCTTATCCTACATCTTCAAGGTCAGGCTGCCCCAGAGCCTGGGTTTTTGGAGGACATTTGTGGCTCATGTGTACTGAACCCCAAGCAATTGAATAATAATGATCTCACAACCCCCAAGCAAGGCACTTAAAAATTATTATTTACTTATTTTTAGAGAAAAGGTTTTGTTCTGCTGTCCAGGCTGGAGTGCAATGGTGCGATCATAGCTCACTGATCAAACTCCTGGGCTCAAGTAGTACTCTTTGCTCAGCCTCCCAAGCAGCTGGGACTACAAGTGCATGCCACCATGCCCTGCTATAAGTTTTTAGTCCTGAGGTAGCAGCTCTTAAGCTTAGCTGCTGCAGATTAGAAAGCTGAAAATAACCAGAGAGGAAGAGTGTTTGAGTCTAGACTGTGTTTTCTTCTCAGCCTCTAGTTAGAGATGTCTTTCCTTCCCTTTCCTCATTCCCTGCTAAGCAGGAGACTTTCAGTGGGATTCAGAGATTCATTCAGCTAAAATAACTGACAAGTATTTACTGGCCACCTAACAGAGTTTGGGCTCCAGAGATACAGTCATAGGAAAAAACAGAGCTGGCAATGTAGAGTGAGGAGACATCTGTGAAACTACAGATCTAAGTTTCAGATTATATCAATGCTTTAAAAGAAAGGCAGACGTCTTCAAAGAACACACAATAAAGGAAGCTAAACTTAGCCAAGGATCAGAGGAGGCTTCCAGGAGGAAATGACATGTGAACTGATATATAAAGAATAAATAATAATAGCTGACATTTATTCAGGTTTACTATGTGTCCAATATCATTCTAAGTGGTTTATAGGTATTGCCATGTAATCCTCACACAGCATCTTGAGGTGATACACATATGTACATCATGTGTGCATGGGTATGTGTATGTATATACGTTTACATGTGTGTGTGTATAAATGAATAGATAGATGACCTCTCCAAACCCCCAGGTCTGGTCCTCGACTCTGAAGGTGTAGCCAATCAACTATGTCCATGCTCTCAGCTGGGTGGGTCCCATCCCTCAGGGAAAATCTGGTAGTTCTAGTTAGGAGTTCCACATTTTGTACTTTCTGTGCTGTGAGTCTTTGCGCAATTGGAATTAGAAACAGAGATGATAAGAGTAACAGTGGAAAACAGAAATTACCTTTTCAGCTCTGTTTATTTCAGGCTAGAAGCAACCAGAGACTCTTTACAATTTGAGTATTAAGAATCTCAGCAAACAGCCACATTAATGTAAGAAATAGACAAAAAAAACTTGAATCAAGACCTAAAACCAGTATGGCAAAGAGATTCTGGAATAATACCAGGATGAAGACATTACCAAGACATTCCTAGCTAAGGCAACTCCCAGTACTCAAGTGAGGGGAAACTGGTGGTTAAAACTAGGCCTAGACCCTGGTGCTAATTTTCTACCCAAACCTTTAACTTGACATATAGACAGATGTATGACCTAGTGACGTTTAGTAAATGGCCTCAAGTTTATTTTTTAGATGGGATTAATTCCTCTCAATCAATCTTTTCAGCAGCGTGAGTGAGGCCTGAGAGGCACACACAGTCATTAGGACTGTGACCACCCCACCAGATGCTCCAGCAGGCAGCCTGGAAGATACCACCCGTCATGCGCTCACATGTGTCCTTTTCAGCACGAGTAGCACAGTACTGAGCACTAAGCATTTGGTGGTTCTTTATATTTAGACCACCAAATCGTGGGAAATGACTGTAACACGGAAAGAGCCTTTCTAATGGCATTGCACCATACAAATGTTCAGTGTGATTATTATAATCTCCACCAACAGAGTTGCTGTGTAATGCTGAAATGATTGTAGAACATTCCTATAGAAAAACCCTCTTACCTCGGAGCCTCTTTTCACCCCTCCTCCATCCCTGGCAGGCTATTTATGTGGTAATGTTATCTTTTGAAACTCTAATGCGCAGCAGTCCAGGTCGATCAAGCCACCTTTTAGCTTTTGCCGATTTGCTTTGAAGTTGACACCAAGGTCAGATGTTATTGTTATTGCACAGACTCAACACCAGGGGGTGATCACAGCACATCACACTAATTACCACTGCCAGACAAAGCTGAGTGCTAATCTCAGGCAGTGCACCCAGAGCAAGAAGCACGGAAGGAGCTGGGCTCACAGAAACTCTGGTCAGTAGAAGGCACAACATGCAAAGAGGCTTTTTAGTGGCACCACATGGTACAAACGTTCACTACGATTATTATAACCTCAGTGGAGCTGCTGTTTAATGCAAAAGGAGAGAACATGCCATCTCATGACTAAACAATTGCATAGGAAGCAGAATGCAGACAGTTGTCCTGCCTGTTGCCCCACAGTGCTGGGTGATTTAAAGGTGCCATTGAAACCCGATGGATGTTCCTGTCTTGGTAGCATGCAGCCTCACACACCAACTCTGTGCTCAACTAATGTATAAATCCCTACAGCTCCTCAAGTGCCAAGAATTCTTCAGGCCAGTGGTATTTGTAACTATTGTGACTCTCCAATTCTTGGAAATACTCTCATGGCAAAGCACCTCTTAAAAGAAATGTGAGAGGAGGAAATTCAGTTCAATTCTCCAGAAACTGCTCAGTGGCTGCATGAAGCACTGTTTGTGATTGCTTTTTAATGTTCAAGATGCAAGTGGCTGCTCCTTTGGGGCTGTATTTTTCCATTAGAAAACACTAATCTCCCTCCTCCTACTCCTCTGAGAGTCTAAAACAAATGTGTTTTAGCTCGTTTTCTGTTTCTCCTTCATCTGCAAACCATTGAGAACGTCACATGTTCTAGGATCCTATGATAGTGTTAGAGGCAAAGATATATGGCTCAATATTTTCAGTGAAAGTTCATGAAAGTTGATTTCTTTTTATATTAGGTTAAAGAAGCCCTAAATAAAGCATACATATGTCTCGAAAAGCACTTCATTAAGGGGGCTACTGGGATGGAAATGAACCATACATTCCTTTTTTTTTCTTTTTTATTTAAACTTTTTGTTCAATTTTGATACATATTGAAATGTGTACAAATCATGAGTGTACATCTCTGAAATTTCATAAAGTGAACACACCCATATAACCACCACCTACATTAAGAAACAGACCAGCACCCCAGCAGTCTTGGGCTGCAGTGTAAATTTACAATTCACTTATTATTTATGGGAAAATGTTGCATTCTTCAGTCTATATCATACTATGATTTGAACACATTTCCTTAGTACAGTCATATGTTATTTCTAGAGGTGTGGGACTGTGAACAAGAGTATCAGCATCACTGGAGACTCCATCAAAACTGTGAATTCTCGGATCTCACCCCTAACCTACTGAATCACAAATTCTGGTGGCAGGGCTCAGCTATTGGTGTTTTCACAAGGCTTTCTGGTGACTCAGATATACACTAGAGCTTTAGAAACTTTTTTCTTAGTGTCCACTGTTTAGCCTCAAAATTGCAACTGTGTTCTATGTTTCCTGGGTTGTAACATGTTACATTAGAATAGCGGTGATAAGACCTAATTGCTTATTTCCTTTATCCCTAACCTTTAAAATATACGTATCAGCTGTATTGAGGTATGATTCACATACAACAAAAGACCATTTTTAACGTGAAATTCAATGGGTTGTGACAAATGTTTACCATTGCTTCCCTTTCTACCCATTTCCATCTCATAGTCTCCCCAAACTTTATCAAAATTGTTGGCCTACTTATGTCTCTTCTATAACCTGCGAGCAGAATTCTCGAGGACAAAACTGCTCTATTCATCATTGAGTTCCTATCCCTTGAATGGACACAAATAAGAGGCTTCACAAATATTTGCTGAACCAATGAGTGAATAAAACTATGTACATAAAAATAACCCATCAAGAAGACTAGCTGGGTTGTAGGATGTGGGAAATAGGTGAGTCTACAAATCCTGCATAAATTTGAGGTCTGAAGTGGAGATAATTAGACGAGTGGTGTAATAACATGCTGACAGCAGTGGATTTTCCTCTCGGACCACCTGCATGTGTGGCAGACACGTTCGCTGCCCTGTCTGCATTCCCTCAGTCCATCCTGGAGGTCACCTCTGGTCAGTTCCCTTTCAGGCTGAAATGTTTCCTGTGTCTTTCTGCTTCAGGGAATTTGATGGACATCTAGTGTCTTAGTCCACAAGTGGGACAGGTCAGAAGCGTGGAAAAGTTAAAACTACAGAAGGAATTCCTGACCAACGAGGGTCGTTTTTGGTGGATAACTGCCTCGCTTCCTCGTCCATGTGGGGGACAGTTCTGAGGTGTGCTCCACACACTTTCTCAGCAGTTCCTACTGGGTTGCAGCCCCAGTTACTTACACATTAAATCCCCTTCTTTGGCTTTCCTTCCTTCCCAGCCTCTCCTCTCTGCTTCTTCATAGTACTGCCTGGGTTCTCCTCCTCAAAAACCTGCTTGTACTCAAATCTTTGATGCAGGGTCTGCTTTTGAGAGAACCTAAACTAAGGATCTGCTTTTGAGAGAATCTAAACCCAAACCCTTAAATTTGCCTCTTTCTCACTTTGTGACCTTGAGTAATTTAGTTCCATTTCTGGCATTGTCTATTTGTTCATTTATAAGATAGGGATAATATTACTTATGTTTTAGGATTGTTGTATAAAATCCTATTCAGTACCTGTAATGTTATAGGTATTTAGGAGTTAACAACTATTTTAGCTATCATACACATCTGACTTCCCTAACTAAGATTTTCCAAAAGAGATGACCCCACGGAGTTAACCCTATAACAGTGCAATTCTTAAAGCATTAGAGGGTTACATGGATGAAAGAACGTCTGAGAGCCAGCTCCTCCACTTTCTCTGATAGTACTCTGGGCTCTGCATGCTCTGAAATTCCTGTTTCCCTTCTGGGAAAATCTGGAATTTCACAGAGACAGAGAAAGTCTTTCACTGTCTTACATGGGCTCTCAGGGAATTAGTTCAACAAATACTTACTGAATGCCATTATAGGGGAAGTGCTGTTTTAAGTAGTAAGAAACAGCAGTGCATAAATCAAGTCCCTGCTTTCAAGGAGCTTATATTCCAGGGGTGAGAATTTGGATCATTAAGAAATAATGAAACAAATATATGATAACGAGAAAAAACCCAGGAAATGCAGAATAAAGAGGATAGTTATGAAGCAAGTATCATTCTAATACCCAAACTAGGAAAGGACATAACCAAAAGAGAAAACTACAGACCAAAATCCCTGATGAGCATAGATGCAAAAATCCTCAACAAAATACTAGCTAACTGAATCCAACGGCATCTCAAAAAGATAATCCACCATGATCAAGTGGGTTTCATGCCAGGCATGCAGGGATGGTTTAACATATGCAAGTCAATAAATGTGATACACCACATAAACAGATTTGAAAACAAAAATCACACAATCATCTCAATAGATGCAGAAAAAGAATTGGCAAAATCCAAATCTCTTTATGAGTAAAACCCTCAGTAAAATCAACATAGAAGGGACACACCTTAAGATAATAAAAGCCATCTATGACAAACTCACATTATACTGAATGGGGAAAAGTTGAAAGCATTCCCCCTGAGAACTGGAACAATATAAGGAGGCCCACTTTTACCACTTCTGTTCAACATAGTACTGGAAGTCCTAGCCAGAGCAATCACACAAGAGAAAGAGGGCATCCAAATCGGTAAAGAGGAAGTCAAACTGTCACTCTTTGCTGATCACATTATCTTATACCTAGAGAACCCTAAAGACTTATCCAAAAAGCTCCTAGAACTGATAAATGAATACAGCAATAAGTTTCAGGATATAAAATCAATGTACACAAATCAGTAGCACTGCCATACGCCAACCCATTTTACAATAGTTGCAAAAAAAATAATAAAATACTTAGGATTATACCTAACCAAAGAGGTGAAAGACCCCTAGAAGGAAAACTACAGAACACTGCTGTAGAAATTATAGATGACACAAACAGATGGAAACACATCCCATGCTCATGGATGGGTAGAATCAATATTGTGAAAATGATCACACTGCCAAAGTCAATCTACAAATTCAATACAATTCCCATCAAAATACTACCATAATTAGTCACAGAACTAGAAAAAACAATTCTAAAATTCATATGAAGCCAAAAAAACACCTGCATAGCAAAAGCAAGACTAAGCAAAAAGAACAAATCTGGAGGGATCACATTACCTGATTTCAAACTATACTATAAGGACATAGTCACCAAAACAGCATGGTACTGACAAAAAAATAGGGACATAGACCAGTGGAATGGCATAGAGAATCTAGAAATAAAGCCAAATAATTACAGCCAACTGATATTCAACAAAGCAAACAAAAAATATGTAGTCGGGAAAGGACACCCTATTGGACAAATGGTGCTGAGATAATTGGCAAGCAACATGTAGGAGAATGAAACTGGATCTTCATCTCTCACCTGATACAAAAATCAACTCAAGATGGTTCAAGGACTTAAATCCCAGACCTGAAACCATAAAAGACATAGAAGATAACATCAGAAAAAACCTCCTAGACATTGGCTTAGGCAAAGAATTCATGATGAAGAACCCAAAAACAAACACAACAAAAACGAAGATAAAAAAATGAGACAATTAAACTAAAAGGCTTCTGCACAGCAAAAGAAACAATTAGCAGAGTGAATGGATAACCCATGGAGTGGGAGAAAATCTATACATCTGACAAAGGACTAATATCTAGAATCTACAAGGAGCTCAAACAAATTAGCAAGAGAAAAACAATCACATCAAAAGAGTGGGCTAAGGACATGAATAGACAATTCTCAAAAGAAGATACACAAATGGCCAACAAACATACAAAAAAATGCACAATGTCACTAATTATCAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGCAAGATTGGCCATAATAAAAAAGTCAAAAGATAATAGATGTTGGCATGGATGCAGTGAAAAGGGAACACTTTTACACTGCTGGTGGAAATTTAAATGAATACAATCACTATGGAAAACAGTATGGAGATACTTACAGAACTAAAAGTAAAACTACCATTCAATCCAGCAATCCTACTACTGAGTATCTACCAAGAAGAAAAGAAGTCATTATATGAAAAAGACACTTGCACACATGTGTTCATAGCAGCACAATTCACGATTGCAAAAATATGGAACCATCTCAAATGCCCATTAATTAGTGAGTGGAAATAGAAAATATGTGTGTGTGTATGTGTGTAAATATATATATATGGAATACTACCCAGTCATAAAAAGGAACAAAATAATGGCATATGCAGCAACCTGGATGGAACAGGAGACCATTATTCTAAGTGAAGTAACTAGGGAATGGAAAACCAAACATCATATGTACTCGCTTATAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCATAAGAATGATACAATGGACTCTTGGGAGAGGAGTGATAAAAGACTAAACATTGGGTACAGTGTGCACTGCTCAGGTGACAGTAGCACCAAAATCTCAGATATCACCACTAAACAACTTATCCATGTAACCAAAAATCATCTGTTTCCGCAAAACCTATTGAAATAAAAGTAAAATAAAATAAGCAATAATGATAACAATAAAAATAGGGCATGAAGAAATTAATTTACATAGGATATCAGAAAGTGTTCTCTGAAAAGAGTATTTCTGATTGAAGACACAAAGTTAGAAAGGGAACCAGTCATAGGATAGCTTCAGGAAGAGCCAGACAGGCAAGAAGAAAAAGGCAGGGGCACATTTCATGTGTTCCAGGAATATCAAGGAAGTCAGTGAGGGCAGAAGGGAGTAAGCAAAAGAAGAATGGAGTGAGAGGCTTTTCCCATCTCTTAAGGCAGCAAGGACAAGATGGCCTGGGGCTGTGTAGATCACAGGATGGGCTTTGGATTTGATGTAGAGATGGAGAGTCTTGAGCAGAGGAGTAACATGATCTGAATTAGGTTTGAAAAGGATCATTCTGGCTGCTATATGGCGAACAGGCTGAGGAGGCAAGAGCATAAGTTTATAGGCCAGGTGGGAGATCAGAGGAGAGATGACCATGACTTGGCCCAAGTAGCAACAGAGGTGGTTAGAAAATGTTGCATTCTCCCAGAAGGATGTGCTGATGGGTTGGATGTGGGTTACAAGAGAAAGAGAAGACTCAAGGATTATCTAATGCTTTTGGAATACATAACTGAAAGCCTGAAGATGTCCCTTAATGATATGGCAAAGATTAAGAAAGAAAGAGGTTTTAGGGATAATGCCGGTGTTGAGTTTTGGATATGTTAAGTTTGTAATGTCTATTCTTCATCTCAGCAGGCAATCACATAGTGTATTTATTCATTAAGAACATGGATTGTAAAGCCCAAGTGCCTGTTTCAAATCCCAGTTTTATCACTAACTTGTATGACCTTGGGATACTTACTTTACCTGTTTGTTCTCAGTGTAGAATAGGGATAATGGGGTCTGTAGAATAGGGATAATAATCAATCGCAATGAGGATTAAATAAGTTAATGCATGTAAAGTGCTTGGGACTGTGCACTGCACAAAGTAAGCACTACACTAAAACATGTTAAAATATTGAATAGATAGATATACGAGTTCAGAATTCAGAACAGAGGACTGGGCTGTATGTAGCAAGCTGCAGTCATCAGAGCATAGATGCTATTTCAGCCATGGGACTGGATGAGGTCATCTAGGGAGTGAGTGCAGATGGAGAAGGTAAAATCACCAGATATGGAGTCCTGGAGCATTCCAAGGTTTAGAGGTGAAAAAAAGATGAAGGAATTCAAATGTACAAGTTGTTAATTCATTTTTAGAACTTTACATTTCTTGTGAGCTTTCATATTACTACTTGAAAATTCAGCCGAATGATTCACAAAGAGCAGCATTCACTTGAAAATGTGTCTGCAGTGGGGCCTGCAGCAGAACCTATTTTGAAATAACACTTGTCATTCTAGGAAGGCGGCTGGAGTGTCAGAAATGGCCAGCCATGCATTACGCATTTTATTCCCATGAAAAGGAGGGGTAAAGTGGGGAGATGTGATAATTTTTTCAAGGAGAACAGGGTGGCTAAGAAGTGTTAGCCTTCAAAGTATCCTGCTTATGAGACAACATAGGTACTTACATACTTACCACTGATTTCGGTATGTTGCTTTTTCATATATGATTTTATTAACAGTTATTAGAATAACTACAATTAGAAGACCAGTTTCTGTCTTTTATGGGTGACACCTGTTTTTTATTGTGGTAAAAATATATCTATAAAACATAAGATTTGTTATTTTACCATTTTAAAATGTACGATTCAATGGCATTAATTACATCCATGGAGTTGTTCAACTATCACCACTATCTAGCTCCAAAACATTTTCATCACCCCAAACAGAAACTCTGTAATGCATTAAACAATAGCTCACCATTCCCCTCTTACCCTATCCCTTGGTAACTTCTAACCTACTTTCTTTCTTTATGCATTTGCCTGTTCCAGATATTTTATATAAGTGGCAAATACAGTATTTGTCCTTTTTTATCTGGTTTATTTCACTTAGCAAAGTATACTTTCAACGTTCATCCATGTTGTAGCATGTAGTAGAACTATATTCCTTTTTATACCTGAATAATATTCCATTGTATGTACACACACACCACCCAGATTTTGTTTAACTATTCATCTGTTTTCTTTAAATGTTTGGTAGAATTCACTAGTGAAGTTATCAGGGCCTGGAATTTTCTTTGTTGAGAGGTTTTTGATTATTGATATGGAATTTTTCTTCTTTTTTATTGTAGGAATTTGTAGCTATAAATTTCCTCTGAACACTTCTTTTGCTGCATCCCATAAGTTTTGGTATGTTGTGATTTCATTTTCATTCATCTCAAAATATTTTCTAAATTTACTTGTGATTTCTTCTTTGACCCATTGGTTGTTTCTATGTTGTTTAATTTCCACAAGATTGTGAATTTTCCAGCTTTCCTTCTGTTACTGATTTCTAGTTCCATTCCACTGTGGTCAGAGAAGATATTTTGCATAATTTTAATCTTTATAAATTTATTGAGACTTGTTTTGTGGCTTAACATATGGTCTAGTTTGATGACTGTTCCATGTGCACTTGAGAATAATGTGTGTTATGCTATTGTCAGTAGAGTGTTCCATATACAGTCAATCTTCATTATTCATAGATTGCATAATTCCCAATTAGCCCACCCACTAAAAATTGTTTGTAATTCTGAAATCACATAGCTTTTACATTCATTTGAGGACATGTTCGGAGCAGTGAAAAATATGAGTTGTCTGAGACACACATTCTCAACTCAGACTGAACAAGGCGTTGCTCTGCCTTCTTTTTTAAGTTCCCATGCTATGAGCAAGTGTCCTTTTGGTTATCTATGCAGTGCTATGCTTTTCATATTTTTGTTTATTATTAATGTTTTTTCTGTTTAACATGGTTCCTAAGCACACTATTGCAGTGCTGTCTGGTGTTTCTAAGTGCAAGAAGGTTGCGGCATGCCTTACAGATAAAATGTATGTTAGATAGTCGTTATTAAGGAACAAGTTATAGTGCTATTGATTATGAGTTCAATGTTAATAAATAAATAATATATATTGAATAAAGTGTCTTTAAACAGAAATACATATAAAACAAACTTACGTATTGATCAGTTGATGGAAACGTTACCAGAGTAACTCTGCATTTTGCCTAAGAGTAACAATTTAATATTTGCCCTAAAGTTCATGGTGACTTTATAGAACATTACTACCGCAAATAGCATAAATCAATTGTATTTCTATTAGGTTTAGTTTGTGTATATTGTTCAACTCTTTTATTCCCTTATTAATCTCTGTCTACATATTCTATCCATTATTGAAAATGGTATTAAAAACTCCAAATATTATTGTAGAACTGTTTCTCTCTTCAATTCTGCCAATGTTTGCTGCATATATTTTGGGGTTCTGTTGTTTAGTGTATACATGTTTATAATTGTTATATCTTCTTGATGAACTCACCCTTTATCACCATATAATATCTGTCTTTGTCTCTTGTAACAGTTTTTGGCTTAGAATCTATTTTGTTGGATATTACCATAGCCACTCCAATTTTTTTGGTTGTAATTTGCATAAAATATCTTTTTCCATCCTGTACTTTCAAGCTATTTGTCTTTTTGAATCTAACATGAATCTCTTGTAGACAGCATGTAATTTAATCATGGTTTTGGTTTATTTTCTGATCCATTTTCCAATCTCTGCCTTTTTATTTGAAAGTTGAATCTATTTATATTTGAAGTAATTACTGATAAGGAAGGAACTGCTTCTATCATTTTGCTGTTTGTTTTTGTATGCCTCATAGTTTCTGTGGTTGGCATAAATATATTTATCAGCTCAAAAAAAAAAAAAAGAAAAGAAAGGAATAAAAGAGAAACAAAATGAGGCAAAGGCTTACAATTGTTCCAAATAAAAATTGTTATTTTTTTTATCTAACTATCTTTTCTCTAATGAGAAAACCATCTTTAACCTTTAAGTAAAACTAATTTAGTAGGATGCATATTCTGAGTTGAAGACTCATAGGGTTTCAGCACTGTGGCTCACGGCTCCTTAACTTATTGGTCCTAGAAGAAAAAGCTGAGAATGAAAGAGTAATTTTTACCACTGTAATTCAACAACATCCATCCAAGTAATTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTACAGTGCTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAGCCTTGCCAATAGTTGGGACTACAGGCCTGTGCCACCACATCCAGCTAGTTTTTGTATTTTTAGAAGACACACGGTTTCACCATGTTGGCATGTAATTTTCAAATTTCCTATCTTTTAAGAAGAATAAAAAAATTCCTGACGTTTGTGGAGCTTCTAGCAGGCTGTGTGCTAGACCCTTTTACTTTCTCATTTTGATGAGGACTTGAACTAATCAAATAATATCCATTAACTACTGGTCTTGAGGGGCCTTAATACATTTCATTTTCGAATGAAGCCTTCAACCATTGCTCTTCATTTACATCTATAAGCAATCCAGCTTTTTGAAGGTTCAAGGGAGCTTTAATATTTCTGAGCAAGCATCTATCTATATTCCATCTCCAAGATCCTTTTTTCTTAAATCACTCCGCAGTGCTTGAGGATAGGGCAGAAGAGTTCCACTCTCTCCAATGCCTCTTAGAATAAAATAAAGCCAGCACTCAACTTTTTAACTTTATATTCAATTTTCCTAATTATTAAGAATAAAACAAACAAAATAAGCTGAAATGCTTTTATTTTTGATCATAGGCATAAAACCATCCTGGAAAGGAAGAGTGAGTTATTAGCCTTCCTCAGTAGAACAGTGGTTTCCAAATTTTCTTTGAGGATTAAAAACAATAACCATTTTTCTTCAATAAAAAAGCTATAAACAGACTTCCAAAATATAAACACAGAGAGGCAGAACTGCTCAGTTTGAAACTACAGGAAAGGGGAAGATGCGGAGTCTGAAGCTGTGGCCCTGCTCCCAGTCTTCACCCCACAATTCTGTTTACCAAGAGTTCTCAACCTTGGCTATACTATATTAGAATTGCCAGAGGATTTAAAAAACCCTGATACCTGGTTTTCCCCAGACCAACTAAATAAGAATATCTGGGGGATAAAACAGAGGTATCACTATGTTTTGAAATTCTACAGGTGAATCCAAAATTTAAGTGAGGTTGGAACCATTGCAAGAAAGGGAGAGAAACGGTCTATTTTTTATTTGACAGCAGTCATAAGCTTTTCCCCCCATTATCCAAAATACCCAGAAGTGACAGAGCTATCTGGATAGCTGGATTAATATAATTTCTTTCGCTTTGCTGTTGTTTCACACATGACTGGGTTAGAATAGAAAGTGAGCTTTTTTAGGGTATAACAATGTCATCAGATCTTTTACTTTATTGTTTAAAATAAAATAGCCCATATGCTTACAACCAAACAACTTGCTCTTTTGTAATTTGACCCCTGAAGAGAATATTTTTCAGAAGGAATTATGCCAGAGTCAAAAGAAAGAGAAAAATTAAAATCATCCCTACTTTGAAAAGTTAAGTGATTAGAGAAAAATCTATGGAGAATATCTCATTCTTATCATTATGTCTTCTCTCTATTGTATCAGGAGACAATAAAGGGAATTAATTAAGAGGCTCTCTCTAGCATCATTAACAGAGAACTCCTCTTTGTCTGATTATGATTTCAGGAGATCAAAATGTTTCTACCTCTGAAGATTAGAACTATAAGGACCTTTTCCCCCCACTTCACCTCAGGAAGCTCTCTTTGTCCTTACTGAAGGTATTTAAACAGAAACAACTTAATGGATTTGGATATTAAAAAATCAATTGAAGAATCAAAACACTATAAAAATTGCCAATGAAAAAGCTAGTAATAAACATATTTTGGAAAGAAAATTTTAAAATTCATGCAATAAAGGTATGATGAGACCAGGGAGTGAATGAATAAACAATAAAAATAAAGATAGCAATTTCCAAAAGAAACAGGCTTGGGGTTTTCTAATTCTAAGGCTTCTTTCATTTTGCTTTAAATGAATTTAATTCCTACAAGGCAATCCTAGTAAGGAAATCTCTTCTTATCATTTTATGCATGTTGAGAACAAGTAGAGAATGAAGTATGGGCTGTGTGTGTGGATTTTTGTTCTTATTCAGTGAAATCAACTGGCTAATGAATATTTACTCTCAAGTTCCCTCTCATTTCAGGGAGATCCAGCCATGCCCATACTGCAGAGCACACCATAAACTGCAGTGTTGATGAAGGGGGAAGGGGCAGACTCTCCTAGCTGTAATCCCAACACTTTCATATGGAGACTGCCTATGAAAGTCCTTACATCTTCCTGGTTCCCTCATTTCTAGCTTTCAGATGTCACATTGTAAAAATTAAAATTGAATTGACATTATTTAAGCACATTGAAAGTTTTCTAGTATTTGAGATCTTTGCATGAGACTATTGCTTCCCAGAGAGATCTGGAACAACCACATTGGGCAAACGTCTGTCATATCCACAGATCTAGCTTGCACCATTAGGTTTCAGGCACAGAGAAGAAAGAGCATCTTTAACCAAAGCCAAAATTGCAAACTATATCATAAGGAAAGGAAAGGGGAACTAAGTAGAAATGGGAGGGGAAGAGGAAAAGAAATAACAATGGATTGAGCACTTTTTATATCCAAGGTATAATACAAGCCTCTTTATGTGATTATCATCAAATGAAGACAGAGAAGCTCAGATGGGTTAGTTGATTTGCTCAAACCTGCTTTGCTAGAAAGTGGGGAACCTGCAATTTTACCCTGCTTTCTTGGGTTCCAGATCACTTGTCACTCTGCCATTTCACAGAAAAAGTACAAAACAGATTAAACAAATAAGCAATACAAAAGGCAAAGTGCAAGACGTAATACCTATTTGTTCTAACCCTTAAATGTAGCTCTTCTCATTGTCCAGATGGGCTATGATGTAAGGACACTTGCCTCAAATGGTCAAAGCACATTGGCAGACATTTCCATGCATCCCTCCGGCTGCCACAGCCTGCCATGTGGGTGCAGACTCTCTGCCAGTGGAGCCTTCTGCTGTTGACGTTGCCTATGGGCCTCCTCATCTCCCTGAGCCTGGAAACCCAGCTCCATGATGTTGTAAGGGCTGCCCTCTTGCTGATAACTGCCAAATTTCCTTGATGTTCAAGGGCTTGGAAGAGCCCAACATTTGAGTAGCTCAGTGCACAGATGGATTCAGAATTTCAGGGTGCTGGAGCTGAAGATTCAGAAATGTGAGACATTCTAGGGAGATGTTGACTTAGCTCCAAGCATTAGGGCTCCTCAGATTAAAAACATCTAACCCATCTACAATACAAGAATTTTAAAGTGATCTGTGGATTTGAGTTGTTATAAGAACTATTTTGCTTACATTATAAGAACGTTATTCATGACCATTTATTAAAGACTTCTAGTGCTTTTGTATATATAGCTTATCTGTTGTCTTCGTAATGACTCTATCGTAAAATCTTAGCCCCATGTTTAGCTGAAGAAATGAATGCTCAGACAAGGTAGGCCATTTGCCCAAATTCACACAGCAACTAAATTATAGAATGGGAATTCTAACCCAAGTCTGATTCCAGAGTAAGTGTTGTACAATTGCCCCCCTAATAATGGGTAAAGTCAATGTGTGTGGGCTAAGCTGGTAACCTAATAATCACTTAACTTCTATTTTTTAATCTATATTTTTCTAATCACAAATTTAAATTGAGAATTCCAGTTATGTAATTATCTACTAATGAATAATAACTACTTATTACCAAGGCATACTACTAAATATGTTTACTCAAAAGTGCATTTCATTTTGAAAATTTTGTTTTTAATTGACACACAATATTATGCTTATTTATGAGGTACAGTGTGGTATTTTGATACATTCTGTAAAAAATCAAGTCAGGTTATTTAGCATATTCATCACCTCATACATTTGTCTTTCCTTTGTGGTGAGAACATTCAAAATCCTCTCTTTTATGTATTTTGAAACATACAATGCAATATTGTTAACAATAGTCACCCTACTGTTCAAGGGAACATCAGAATTTATTCCTGCTATCTAACTGTAACTTTGTACCTATTGATCAATCTCTCCCTATTCTCCCCTCCTCCCTCCCCTCCCCAGCTTCAGTGACAACTATTATACTATCTGCTTTAATGAGATCAACTTCTTTAGATTCCACATATGAGTGAGATCATGTGGTATTTATCTTTCTGTGCCTGGCTTATTTCACAGAGTGCTGCACACACTGGTTTTTCTCAACATAACATATCTTAAAGCCTTTCCCATATCAGCACATACAGTTCTAGCTCATGTCTTAATGACTATAATTTTTCATTATATGGTTGTATTTAACAGAGCCAATGCTAATGAATGTCTAAGTGGTTACCAGTTTTTTTGTAATTGCAAAAATGGTTTCAGTGAATCTTTTTTGAACATAATTTTGGCATACTATACCAGTACATCTACTGGCTAAATTTTTAGCAGAATTGTGGAGTCAGTGTACAGGCAAAACATTGATAAATGTTGCCTAATTGTGTTTCAAAGGAGTTGAATCTGTTTACCTTACCAGACACAGTGTATGAAGGGGCTCATTTCCCTTTAAACTTGTGAATACTGGGCATTCTCAAATTTTAATTTTTGTGCTAATCTGATAGATAAATTATGAAACCTTTATTTTTGAGATAAAATTCATATAACACAAAATTGACCCTTTAAAAGTATATAATTCTGTGGCTTTTAGTATATTCATGTTGTGCAACCATTACCACAATCTAATTGTAGAATATTTTCATAACACTAGAAAGAAACATCATACTTATTAGCAGTCACTCTCCATTCTCCCCTCCCTCAATCTAGTCCCTGGCTACCACTAATCCACTTTCTGCCTGTATAGATTTGCTTATTCTGAACATGTCACATAAATGGAATTATACAATATGTGAGCTTTTGTGTCTCAGTTCTTTCACTGAACATGTTTTTAAGATTTATCCATGATGTAGCCATGAATTAGTATTTTCTTTTTATGGCTGAATAACATTCTTTGTTTGGATATACTACAATTTGTTTAACTATTAATCAGTTGATGGACATTGAGATTGTTTACACTTTATGACTATTAACAATTTTGTTATGATAATTTATGTACAAATTTTTGCATGAACATAGGTTTCAGTTCTCATTGGATATATACCTAAGAGTGGAATTCCTGGGTCACATGGTATCTCTATGTTTAACATTTTGCAGAACTGCCAAACTGTTTTTCCAAAATGGCTGTATCACTTTACATTCCCCCCAAAATGCACAAGGGTTTTAATTTCTTTAATCCTCACCAATACTTATTATTGTCTATCTTTTTGATTGTAGCCATCTTCGTGGGTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCATCCTAAATTTTAATCCCCATAATCCCCACATGTCGAGGAAGAGACCTGGTGGGAGGTGATTGGATCTTGGGGGTGGTTACCCCCATGCTGTTCGTGTGATAGTGAGTGAGTTCTCATGAGCTCTGATGGTTTTATAAGGGACTTTTCTCCCTTTGCTCTCTCTCACCTGCCGCCATGTAAGATGTGCCTGCTTCCCCTTCTGCCATGATCGTAAGTTTCCTGAGGCCTTTCTAGCCACGTGGAACTGTGAGTCAATTAAATCTCTTTTCTTTATAGATTACCGAGTCTTGGGCAGTTCTTTATAGCAGTGTGAAAACAGACTACATATCTTGAAGGCTTTCCCATATCAGGACATACAGTTCTAGCTCACGTTTTAATGACTATATTTTTTCATTATATGATTGTGTCTAACAGAGTCCATGACGATGAATGACTAAGTGGCTCCCAGTTTTTTTTGTTATTGCAAACAATGGGCTATAAAGTTGTATCTCTAGATGGTTTTGATTTGCATTTCCTTAATAATTATCTTGAGCATCTTTTCATGTGCTTATTGGCCATTTGAACATTTTTTTGTAGAAATATCTATTTAAGTTCTTTGTTCACCTTTATTATTGAATTATTTGTGTTCCAATTGTTGAGTTCTAAGAGTTGTTTCTATATTCTGGATATCATATTCGTATCAGATAAATGATTCGTAAATATTTTCTTCCACTCTAGAGGGTTGTCTTTTTACTTTCCTGAGAGTATGTTTTGTAGCACAACAGTCTTTAATTTTGATGAAGTCCAACTTATCTATTATTTTTCTTTGGTTTCTTGTGCTTTAGGTGTCATATCTAAGAAACCATTGCCTAATATAAATATTTATACCGACATTTTCTTCTAGGAGTTGTATAGTTGTCGCTGTTACATTTAGATCTTTGATTCATTTTGAGTTAATTTTTGTATATGGTGAGAGTTAGGGTCCAAGTTCATTCTTTTGCATGGAGCTGTCCATTTTTCACAACACCACTTACTGAAAAAACTATTCTTTACCCATTGAATTGTCTTGGCACTATTTTTGAAAATTAATTGCTTCCACATTTATTGCTTAATTTCTAGACTTTCAATTATATTCCATTAGTCTATATGTCTATCCTTATACCAGTACCACACAGTCTTGATTATTATTGTTTTGTAGCCAGTTTTGAAATTGGGAAGTGTGGGCTATCCAACTTTGTTCTTTTTCAAGATTTTTGGCTATCTTATGTCACTTGCACTTTCATATGAACTTTAGAGTCAGCTTGTAAATTTCTGCAAAGAAGTCATCTGGGATTTTAATAAATATTACATTGAATTTGAATCTGTACATTGATTTGGGGACTATTGTCATCTTAACAATATTATCTTCTAATCTATGAGCAGGAGATACACTTACATTTATTTAAGTAGTCTTTAATCATTCATAGTTTAATCACTCTTCTACTTCTTTTGATGCATTTATTATTTTCGATGCTACTGTAAGTAGATTTTCTTGATATTTCATTTTCAGAATGATCATTGCTATTGTACAGAAATCCCTGTATCCTGCAACTTTGCTGAACTTGATTACCAGCTTTCCTAATTTTTTTGTGGATTCATTAAGATTTTCTACAAATAAGATTATGGCAAATACAGATAGCTTTGCTTCTTCCTTTCTAATCTGAGTGCTTTTTTGTTGTGGTAAAAAACACATAACATGAGATCTACTCTCTTAACAAATTTTTAAGTGTACAATATACATTGTTAACCATAAACACAATGTTGTACAGCAGATGTCTGAGTCCAGCTAAATAATTGGTATTCCAGAATCCACCAGCAGGTCGCATAATGAAAATTCTCACGAATGAGGCTTTGAAGGTGCTCCAACCTCATTCTGCCCTCTCCACTGACTGCCAGGCTGCCGGTTTTCATCATGATTGTAGGATGTTGGCTTTTAAGCTCCCATGGAGCTGAGAGGGAAAGGTGGAAATATGTTGAGTTTAAATGCCACAAAGCATGCTGTTCTTATTAGTATTCTGCTCTATTTTTTCAATGAAATCTCTCTGGCTTGCAGAAAGCCTTTTGTTAATTTCCAGTGTAGATTCTTAGAATTTTTGTCATGTTTTTCCATTGCTTTTATGGAGGAGAAAAGTTTCAGAGGACCTCACTCGGCCTTTCCCTCCTTCTTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTTTTGGAGACAGAGTCTCCTTACGTTGCCCAGGCTGGCTTTGAACTGCTTGTGCTCCTGAGTAGCTGGGACTACAGGTATGTGCTATGGTACCCAGTTTTTCACTCTGCCATTTTTATTGATATCATCCCACTAGCTTAACTTCTTTGTAAATACTCATTCTGAGTTCCAAGTAACCATTTTACAAATGTACTTTTGGATATTTTTCTTTGTCTTTTGGAGAGGGCCTAAATTAATCTCTCTCTCACCACTTCCAATAATACAGAGCTAGGCCACAGTCACAGAAGTTACCCCCGCCCCACCCCACCCTATGCTATGTAATTTGAGAGATGTGACAGGTTCTGCCACCTTCAGATCTCTTTCATACCAGCTTACCTCCGTTGAACTTCCTCCCACTAGAATCACTAAATGGTGAAAGCACAAAGATCTGGGCACTATCTGGGCTCCAGTTAAACATTCATGATACCAAGAAGCATTGCTAAAAATACTCCTGCCTTATGAGATGATAGATGCAGGAGGGAATAACACATAGCATGTCCAAGCCTTGGGTAGCCCCAGTGGTGAGGAGACAGAATAGAGGTAGCAGGGTGAGATGGAAAAACAGTGTATTAGTCTTGCAATTAAAAAACCTAATCTCAAATCTACCCCACATGGCTTTGTAATCTTAATTAAATTGCATATCTAATTTAGTTTCAGTTTTTAATTGGTAAAATGAATAAAATAATTCTTACCATGTGGAGTTGTCATGAGGATGAAATACATAAAGTGTTGACTGGTATAATACCTGGCATAGAGGAGATGAATCTAGAGATGCAGATCTGATGAGTTAATAGGTGCATAGTGGGCAGACTGAGGACATGGACGCCTCTGTGACTAAGGAAAGACTGCAGTCCTGGAATGTGAGCTTTCTGTTGGCCAGAACTTTGCCTTCTAGTTCATGGCTGAATCACAGTGTCTAATGCAGGACTGTCACACACAGTAAATGCCTTATAAAATACTTGGCTATTCTTTTTGTTTCTTAAACCTCCAGAAAACAAGATTTCACAACCTCCATCAGTAATCATTTAGGCATTTAATAACCCTGCTGGGGAACATTTCTTGACAGCTTTCTAACTCCCTTTTGTTGCAGCTAGAAACCATTTCAGCTTAACTCAATTCTCAGTGCAGCATTTCAGCTCCTGTTGTACTTGAAAGTAGCACTTCTTCTGTCTTAGCTGTTGTTAATTTTGAGTCCCTTTAATAATTAATATCATATCTTACTCCAGCCAAGCTGAGAGACAGGCTCTTCTGCCTCTCCTCTGGCTTTTTAATTGGCACCTTGTGCACTGCAAACTACAGTGCAAATGAGTTAAATATCATTCTCTGGCTGACATTTTCTTGTTGTCAAAATTCAGCAAGCTCACCCTTAGGAATGTTCCAGTAAGAACTGCAGAAATGGCTCTGACTGAAGGGATGCAAATGTTTCCATGATTTTTTTTCCCCCAAATGTCTTTGCAATTGCACGTTCACATAGCTACCATGCAGACAAGGGTAGGAGACACTGATTTCCCAGTGAAAAGATTGAGGTTTATTATTTGATGTTGTAAATCGTTGAGATTGCACATTTACACATCAGGCCAAGTTCTTGGCTAGCCTTCTCAGAACTGTGGCAAATGATGATAAAAATTAAGTCTGCGAGGATCAGCAGAACATTTATTTAGTATTAACCTGAGTACCTGGTCCAGCCATGCCACCTCCTGGAAGCAGAGTTGGGTGAAGAATGAATGAATGCATTGAGGGAAATCGTAGCAATTGTATGTCAACAACGAAATGCCATAGATGTAACCAAGAAGAATGTAGAGTATTAGAAGTAGAGAAAAAAGGTTTGGAAGCAGAAACCTGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACGTCTATCCATTACACAAAATTTCATCACCTGTATGCTGAGAGATCTAGGTGGCTGCTCAGAAGATGGTAAACGTTAAAGCTGAGTGCATACTTACATAAAATGTTTACAAATTTGTTTGAATGTAATCTCACCTTTAGTTTTAAAAAATCATAGTTTAGGTGATGGTCTTGATTAAACATGTGTTTTCAAAATAGAAAGATGTAGATTTTTTTCTTGTGGTCTGAGCTAAAAGTAAATAACAACTAGCCACTTAGGCTAATGATTCACATGTAACATAGGACCTGTCTTAAAGAAAGTATCTACAGAATACATATTTTTGATTAAACTGTATATTATGCAGCACATAAATTATTCCTGTGATGATTACCTATACAAAATTGAAAGGAATATGCTCCCACTGATGCCTCCTCCCCAAGAAAAGAACTGAATGAAATGTTTACCCTAAAATTGAAAGAAAAAATTAATTTTCCTATAGGTAAAATATTATAAGTAGAAAAACCTACAGACTTTGTGAGTTAAGGAAAACCTACTTTTACATTCATGTACTCACAGCATATATATTTTCTTAGAAGTCATTCTTGGCATCTGTATCAGTAATTTTGCTGTGAACAACACATGACTCCAAAACCTTTCAGTCCTAAGCATTCTTTTCTCTCATCATAAGTGCCACTGGTTGCAGGTCCATGTGCCTTTGTGTATTGAGGATTGAGACTGAAGGAGCAGTCCCTATTGGAGACATGCTATTTTGTGGCCGATAGCAACAGGGAGAGAGCTTCTAGTGCCTCTTGAACCTTCTGCTCAGAATTGGTGTATGTATGTTACATCCACTTCCATTCCTTTGTCCAAAGGGTGTCATATGTTTAAGTCCAAAGTCAATGAGGCAGCAACATATACCGCTCCCATGTCAGGAATAGTAAGTCTCAGGGCTGGGGGTATGGCTTAGGATTGCCAGATAAAATGCTGGACCTCCAGCTGAATTTGAATTTCAGTAACCAACAAATGAGTTTTTAGTATAAGTATGCCCCAAATATTGCATGGAGCACAAATGTTATTTGTTGTACATCAGAAATATAAGCATCCTGACTTTTTGTTTGCTAAATCTGGTGATCCTAGCAGGGGTGGGTAATCTTCCTAGAGAAAATAGGGTAGTGAATAATTGGGAGCAACAATATATTCTATCATTGCACATTTGCGTTGCTACATTTTTAAAATTACATACTTTGGGGAGTCTGATTGCTTGCTGCTGCTCTCTACACCATGAACTTTCCTCTGTTCTAAACTAATCTAATCTACTGCCACCTGGCTTCACATTTACGCAGAAATTATAATGCCCCCAGGCATCTACTGAAGAACTGAGCTCCCATAGAAGCATTTATACTTATTCCCACCTGAGTCCACAAACACATTAGTCACTGTGGACACCAGGCAGCCCTCATCATATTCTTTTCCTCTTTTCCTGCAACTCCCACTTGCTGATCTACACTGTCCCAGAGCCACCTGAAAACACCTCTCCCCTGCTACTCTGCCAGTGCCTGTCCTGAGAACACCAAGTGCTTGGGTGCTGGGTGGCAGTGCCTCTAATACCACAATGTCTCGGGGCACCAGGCTGGGGCTGGGCGCCAGAGAAAGATGGGAGAGCCATCTTCTCCTAGGGCTCTGTTATTGCCACCAGGCCCAGGGCCAGCTCTAATTATGCCCCCAGTTCCACACAGCCTTTCATGGGAACATATTTGCCAGCTTCTGACCTTCACCCTTCTAACTATATTGGCTCAAACTCAGTCCTAGAAACTTTATGCTTAAGCATCTGCAGTAGAACTGTTGGGAATAAAAAACAACTGGACATTTCATAGGGGCCATTGTCCACTCACATGTGATGCCCTTACTCTGCCTGTTTCCTGCACTGTGGAATGATAATATGCTAACTGCTTCCTCTTCCTTATACACCGTTTGCTTGTGTTTGTCTTTCTCATGCTCTCCTTTACCTCCAGGGGCTTGAAGATATCGATTCCTTTTCCTGGCATGTTTTATTTCACCTCCTACCTTGTGGTAGACTTTGTTGTGTTGGATTCTCCAATATAGATTCTATTTGTTCCTCAGTGAGAAGCAGCAGTGTGATGGGAGAACTGACCTAAGGGTAATTCAATCTATACTGCCTGTGGGTTGGTTTGTATGACACAATTCTGGGAAATGCAATACAGGGGAGGTTTGCCTGAAGCTTCTGGGAAAGGTCTTTCTTGCTGTTAAGAGAGAATGATGGGAAGCTATTATTTCTCTCTCTTCAATTTGAACAAAGAAGCACGTACTAGTAAATGCTCTGGCCACCATCCTACACCTATGAAGGAAGACGGAGATAGGAAGAAACCAATGCCATAGATAGTGAAGCAGAGAAGGCAAAGACCCACGTCTTCAATGACGTCACTTAACCTGCAGCTCATTCAACTCTGAGGCGCACCCTGCCTTCGGATTGACTTTGTGTCATCTAACAAATGTACTTGTTAGAGCCAGTTTGTGTTTTCTATTCCTTACAGCTGAAGGCATCTGACTGCTATATTCCCACCACTGTCTCCTCTTCTGATGACTCTTACTTCTGGATTGTGTTTAGGTGTAATTTTTTTGGGATTGCCTGAGTATGGGTTAGGTACCTTGTACTCTCCTCTCGTAGTCCTTAAGATACTTTGTCATTGCTTATGTAATAGTGTAATTGAACTGCTGGAATATAATTCCCAAAGGGCAGGAGCTATTTGATTCTTTCCACTAGTATATCACTGTCCCAGTGTCAGCCACAGAGTAGGTGCTTAATAAAGTTTTGCTGAGAGAGGCTCCAAGGCCTTGTTGGATGATGTACTGTATCCTCACATATATCCACACAAGCTCTGCTCACCTTCACTGCCTGGTTCCTTCCTCCAGTTGGTTATGACAATGTTTCTTGCCCTTTCAGTTTAATCTATTTTGGTTTCTGGCACCCTCCACTCCATCCATCCAGGTAGTCCTTCTAGGTTCCCAGGCTATGGAACTACTTTCCTTACCTTCTAATCTTCCCTGTAACAGCTGGTCAGCCTGCAGCGCATCCTGCTTTTGGTTCCTTTCCTTCCCTGGCCTGTTTCAGCCTTCAGTGGTTTTCATTTTCCAGCCCCCATATAAGGGCCAAGGCAATTGCTACATTTCATTCTTCTGAAATATTTGCAAAATATGAAATAAACAACAAAATATATGTGGGCGTTTTACTTCTTCCTTTAAACCTAATGGAAGGACAGTAAACTAATGAGGTCAGCAAGGCTCAGATTCCAGGGGCTGGGGAGTTCTTTGAATATTTTATCAAGGAACAGTGGTATTTTTTGTACATGTAGCCCAAATGGCAAAGTTGAAGACATATTTGAAAACACAAAAACAAAAACCGGAAGTTATTCTGGATCTTTCTCTTACATATAAGGAATTAAAAGGTGGCAGCACTGTGACAGACTGTCAGACAAATTTGGTGACACAATGTGAAGAACTGCTCTCCATTTTATATGAGTTCACTCTAGGAGAGGTGAAATAGAGTTATTGGAATGGTATTGTGAGAACAAAGACCCACTGGATTCCACTTCTGCATCTATCTTAGAAGAAAATCATATGTGATAAAAATATTTGTAATACCTGCAAAGTGCAGAGACTTAAGCAGTAAGCAATTTCCAGGGCTTGACTTTCAGGAGGAAAATGAAAGCCTTTTTTTTTAAATTACACATTCACTTAGGTCAATAATAATTCTTATCTTCTGTCCAATGCCTTCTATGTAACAGAGTTTAACCTACAGTATCATATATGTAATTTTTACAGTTTAACTTTATATTAGATAATTCAAATATGCACAAAAGTAGAGAGAGTCTCACAATGAACTTTCACACATCCATCACTTATCATCAACCACTAGCAAAATATGGTCAATCTTGTTTCATGAATATTGCTCTCTTATTTTCCCTTCACATTCTCTTATTTAATTCTCTGTGAGAGTTATTGTCAATGGCCCATTTAGAATGGGAAAATGAGAATCTGAGAGATTGAGTGATGATCCCCATTATAAGGTCAATAAATAGCAAAGCCAAGATACGAGCAAAAGCCTGAATTCCATCAGAGCCTTAGCCTATGCTGCTCATCAGCAGAAGCCCCTAAGATGCACATCAATTATGTGCTGATTTACCAATGTCTCAAATGAACTAAGAAATCAATCGACTAATATTTGTTGAGTCCTTATTTTATACCCACACTGTGCTAGCTACAAAAACATTCTTTTAAAACAGATTTCCAAGAAAGTGGACCCCATGATAGTAGTATTTTTTTAACAGCTTTATGGAAATATAATTTAAGTATCATAACATTCTCCATTGCCAGTATATGAATCAATAAATTTTAATGCATCTACAGGGCTGTACAACTGTCAAAGGCAGTTATTTGTGACTGTTTATATCTGCTTTGTCTCCAGTGCCAAGAAATCGTGCTTGGAATATTATGTGTTCAATAAGTATTTGCTGAATAAATGAATGAAAAATAAGATTTATGCCCTCAAGGAGCTTACTGTATAGTTGGTTAGAAGTGACATATACATATGAACAGTTAGAAAATAAGATAGTTTATAACAACACACTAAATTTATTTATTTACTTATTCATCAGAAGATATTTATTGAATGCCAGGTGTAACTGCTATTAAAAGGTTCATTCACAGATAGTTTATAACAACACACTAAATTTATTTATTTACTTATTCATCAGAAGATATTTATTGAATGCCAGGTGTAACTGCTATTAAAAGGTTCATTCACATCTTGGAATTATCCCAGTAAATTAAAAGTAGCAACTCGTAAGCTTTGTTATTATTGAATACACCTAGTCTTTTGATATCTACGTAAGGAATGCAAGTATTGTTTGACTTTATAAAAATTTCTTGCTTTTGACAGGATGCTACAGATGTGCTTTTGGATGCACATTTGTAGCATCTAGTCTGTAGTCCCCATTCTAAAGTGAAAAGCACTGAGACATTATCTGTATCTTTTCTCAGTGTTGGGCCATGTAGAACAATGCTTCTAGCAACAGGAGTCATTTGAAATGTAGGATCATGAGATAGGAATTCTCAGTCAGACTTAAAGCCAGAGTTGTCAAAATGTAACTTCAGCTTTAAAATAAAAAAGAATTCTTTCTTTTAGTAAATAGAATGTGTAGGCATTAGTTTTCAAACGTTATGATAATAATTTTAAGAAATCTAAGCCTATGTTAGAGTCACTGCTTTCCAAAAATATGAGTTAGTGATTGACAGTGGACTATTGCTTATGGTTTATTGAACTTTGGCATTTGGAAAAGTCTGATCAGTAACAAAACAGAGGTGTTCTAACTTTGTATTTTATCCCTATATTGTGGCATGAATGGCTGTGATACAAAATAGCTTCATCCAAAATAAGTAGAGAGAAAAAAACAGAAAGGAAACTATGTTTTCCTGATTTTATAAGCTTAACATTCATTTAGCCAAGACTTTGGGTGATGATTTGACTTTATGTTAATTGGAGAAAAACTAAGGTTGGCCACATTGTTTGTTCATCTATAAACAAAATGTCTCAGAATAGTCTCCTAATGATCAAAATGTACCTTTCTGTGACCTTTTAAGTGACTCTGTTTACTACAGAAACTATTAGGACTAGCATTTTTAGATCTTTCTGGGTTTCCAAAGAAGTATCAAATGTGTCTCTACGTTGTCTCTTTTCATCTGAGCCCATTAATTTGAATTTTGCAAGATCATATCCAAATCCTATTTGAGTTTTCGCAGTAGACAGAGCCCTGTTTTTAGCAAAGAGCAGAGAAATAAACTTTCACGGAGTTGAAGACTGCACTCTCTATTTGTGTGACAAAGCATGGTGACAGATGCTCTGAAAAGCCATGGTGATGGCAACAAGGAAGCTGTGCTGTGGGTGATTGATTATCTGGGTTCCTGGATTACTGGTCTTGGGAGTAATGCCTACAGCCAGGAAAGGTCAGGTGCCTAGGGAAGTTTTAGATGACACATATTGAAATTCCCAGGCTGTGAACATCCTTTTATTCCTAACTAATTCCCTACTAATTATGTGCACTTATTGAGTTGGTAGAACTTTGGGGACTAGCCATTTTCACCTGTAGCTTCTAACGTCTCACCAGCTAATTGAGAGTGACTGTAGAACATTATAGGACAGAACACTGACTTGGAGTCAGACAGATCTGAATTTGAAATCTAGCTCAGCTCCACAGCTTACCAGCTTGGGCTCTTATGGAAGTTTTTCAATCTGTGTTAAGTAGGGATGATAACAGTACCTACACCCTCCAGTTGTTAAAAATCATAAATGAGATAATACTAATGATGGTGCTGAATGCATGGTCTAGTATCTGCTAAGCATACAAAAATGAAGGTGGTTATATCATTATCGTATTAGTGTCTTTCTCACAAAGATGAGTGACGAAATGGGATCTTCAATGTCCTAGTCAGCATTCAGGTGATGCCAATCAATTCCGTTCAATTCATTTTTTTAAAACACAGGAAAAAAGTCTTGAAAAGTGAATAAGACATATTTCTGACCTGAAAAAAAAAGCCTAAAAGATTGTATGGAAGACCAACATACTTGTACTTAACTACATTGCTAATCAGGATACAACTAAGTGGTCTAATTCCTTGCTGGTTAAAGTATGCTCTGTGGATCAGTGGCATCAACATCATCTGGGAGCTGGAGAAAAATCAGACTCTCAAGTCCCATCTCAGCCTTCTGGGTGAGAATCTGTATTTTAACAACATACCTATTTGATTGATAGGCACATAGAAGTTTGAGAAGCAATAGTCTGAAATATTTCAAACAAAATTCTATGTTGGTAATTATTTCTGGTGGTGGGGGGTGGATTGAAGGACTTGCTGATGAAGTTTAGTTTATATTGGGTCTTTCAGGTTGATCGAGCTTTCAAAGAAGGATGGAAAGGACATTCTAGACTGAGGAAATAGTAAGAACAAAGGCAGGAGGTGTGAAATTTTGTTTCTCCATAAACATGTATGATGTTTAGAGAGAAAGCATTAGTAGCTCATAAACTGGATTATAGAGAATATGCGATAAAGTGATAGATGAGGCTCAAAAGTTTGGTTGGCAACAAATGGCGACATGGCATCAATGCCATGTTACAAAGGATGACTATCCTATTAACATATAAAATGAGACCTCAGATATTTTAGGGCAGAGGGATGTCGTCATGGTTTATTTAGATAGCACATGGGGAGATACATGGATGATTGATTTGAGCCTAAAGGACAAGTGGAAGAGGGGCTATCTAGGCAACTCTTGTAAGAAACTGTTGAATGAAGAGAGTTTACAATATAGGGACTAAAAAGAAAGAAAATGCGGCATCAAGAGACATTTCTGAGGTGAAAACTCTGGGAGTGTGTGAGTGGCACTAGCATTGAATCAAAGATGACTTATGTTTACAGCTGAGGTGACTGAGTGGAAGAGCAAGAGAGCAACTAAGACTGGATCACAGAGAAGGGGTTGGATTAAAAGGAAGATACCTAGTGAGTTCTTGAACAGATCTGGCTTGCGGTATCAGGGACATCCATATGGAGATGCACAAAAGGTAGTTTGGGCTGTGTATTAGTCTGATCTCACACTGCTATAAAGAACTACCTGAGACTGGGTAATTTATGAAGAAAATAGGTTTAATTGACTGACAGATCCACAGGCTTAACAGAAAACATGACTGGTAGGCCTCAGGAAACTTATAATCATGGCAGAAAGTGAAAGGGAAGCAAGCATGTCTTACTATGGCAGAGCAGGGGAGAGAGAGAGACAGAGAAAGGGGAAGTGCCATAGACATTTAAACCACCAGATACCGTGAGAACTCATTCACTATGATGAGAACAGCAAGAGGGAAGTCCGCTCCATGATTTAGTCACCTCCCACCCAGCCTCTGCTTCAACATGTGGGGATTACAGTTTGACATGAGATTTGGGTGGGGACACAGAGCCAAATCATATCAGGCTGAAAGGCAAGCTCAGGGCAGAGATGTGGATTTTGGAAGCATCTCTATGCAGATAGCAGTCAAAATTATGGCAATGCATGAAATAGACCAAATAGTAGGTACAGTGTGAAGAAGAAAAGAAACCAGGTATAAAAGACTGGTGATCATGTAAAACACGGGTGAAAAAGGAAATGATGGTAGGACATCTTTATGGACACTTAGGACACCCCTCCACCCCCACCTCCTGACCCTTGGCCATATTTCTTTTTCTCTTTAAAATTTCCTTTGCTATAAATGATGAGCTGCTTCAAAATCTCCAGGGATTGCCTAGGCCCTGGACCTTGCTAGGAATTGCTCTAAAACCCACCCAGCTCTGCCAGGAAGGGCACAAGGGTTGCATTACAGTCCAAATAGCCACAGTAGCCATCCAGAACTCCTGAGTGACTGGATACTACTTTTTGCAACAATAACAAACTGCCCAGAACCTCAGTACTTATGATTTGTTCATTATTTTCTGCTTGTGGTATAGATCTCACATCCCGTAACTGTCTCCTGAAAGCTTAAGTACATCAATAATTTGTATTTATATATAGTGATTTTTTGTTGTTCACATGATGATTTCTCATTAATTATCTCCTTTGTTTTTCAAAATCACCACCAAAGGGAAGCATTGTTTTTACTCTCATTTTACAGCTGAGGCAGCAGAGGCTCACAGTAATTTTTCCCAAGATCTCATAGTTAGAATATTGTCCAACCTAGGATTTTAGATATTAAACTCCAGGCTATTTTCCCTACTTTCAGTTCTTGTCCCTAAACTGTTAACAGGTCATCCATACGTGCAGGCTCAGTTAGATGTTTTTTTTCTTTCAGATCAGATATAATGGCCCACATGATCTCATTTATATGTGGAATCTAAAAACGTTGAACTCATAAAAGTAGAGGGTAGATTCCTGGTGGCTGCCAGGAGCTGGAGGCAGGGTGTGGGGCAAGGGCGATGGGAAAAGAAGATATTAGTCAAGGTTTCAAAGTTTCAATTAGGCAAAAGGAATAAGTTTTAAATATCTATTTCACAGCATGATGATTATAGTTAATAATATGTAACGTATATTTAAAATTACTATGATGATAGATTTTAAATATTTGCACCACAAAATAATGACATATTAGTCTGTTTTCTTACTGCTGATAAAGACATACCCAAGACTGGGCAATTTACAAAAGAAAGACATTTATTGAAATTATAGTTCCTTGTGGCCAGGGAGGCCTCACAATCATGGTGGAAGGTGAAAGGCAATGTCTCACATGGCGGCAGAAAAGAGAAGAGAGCTTGTGCAGGGAAACTCCCCTTTTTTAAAACTGTCATATCTCATGAGACTTATTCACTATCACGAGAACAGCACAGGAAAGACCTGCCCCCATGATTCAGTTACCTCCCACCAGGTCCTTCACACAACATGTGAGAATCCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATGTCAAATGGTAAGCATGTGAGGTGATGGATCTGTTAATTAGCTTGATTTAATTATTCTATAACATATTTATATATCAAAACATCACACTGTACTGCATAAATATTATTATTTGCTAATTAAAAAACAAAAATATATAATAGTTCAGTCATCTCATCAGCTAGAAACTTCCTAATACATATGTTAATTTCTCCCCTGGTTAGGGAGAAGATTGGCACCCTTTCGTTTAGATGCTACCACTGCTGTTAACTGTACTTTTGTCCTTGAGGCTATATCAAGGGCATCTTCTATTGATTAACATATGGTAACCACATAAGGTAAATTGCTAATTGGAATCAGCAGTGCATATAAAGTTATTTTTTTTTACCCTGAAACAATATTGTAGTAAGAAACAAACAAATAAAACCTTTGCTTAGTCAGGATGCTAGGGTGTGGCTTGCCCCTCATTAGAAGCCACACAGTTGTTGACTAAAAAACCACTGCAGCCTTGGGGTTGTCTGAAGAAGAAGAGTTGCATGATGTTCAAATATCTTTGGTGACAATGAAAGTCTTCATGCCAATGGTAAACTGGCCAAAAAATGTTTATTAAGAGAAAGAAAGTAATATCTTAACAGATGATTTTGAAGCACACTGTGAGGTGTAACTTTTTTATATTATCTTTTTAAAATCAAAACCTTTTTTCTACATCTTACTTTTTGATGATAGTATCACAATAAATTACTGTGTACAAAGCTGTATCTGTTTATATATTTCAGAAATGTAATACACACACAGATACACACATACATGTGGAATAAATTTTATAGGGTGGTATACAGTTTTATGTAAAATTACCATGGACTTTTTATACAAAGTATTCCATAAGACTGATCCAGTGGTTGAGGTGAAATGGAACTGAACATACAGATTTTAAATACTTACTATGGTTCAAGAGTTAATTTTAATATTTTATTAAAAAATGCTTCCTTTGAGTGTTCACAATATCATTATAATATCCTATTACTACCTGGAATTATCACAGTAATGTTGTAGGGTAAGTATTATTATCCTTTCTTTGAAGAAAGGCTCAGAGATACTGAGTAACTCACCTAAGATCACAAAACTAGGAAATGGTCAAACCAGAATTAAAACTACAATTTGTCAGGCTCCTAAGTTCTCCCTCATGATCACTATTCCTGCCTTGCTCAAGATTACATTGCACCAGCCAGAAGAAGTATGGGAATTCAGGTGTGCTAACTTCCTTCCTAGAGTTCTTTTCTTTGTTTTGTTCTGTTTTCAAATAGGTAAACTGACATGAGGCTCATGTTAGTTTAGATTCCAGATACCTAAAGAAATGGTTTCAAAGCTTCTTCTCACAAGCCACAGATTGGGACTCCTGAAAATTTTCTTCATGTGTTTCTTGGCATCATGGAGTTCTTCTCTTCCCATAATTCCAAATAGCACTGGACTTCCAGGATCAATGTCATGACAAGGTCAAGGTCAAGTTCACCCCAATAGACGCATGACAAAGTTGCTAAAGGGCAGCTGGACATAGTTCAGTGAGTGACAGAAAAACGCCCTTATGAGGGGAGATCTGGCGAGAGGACTAATGAAGCTGGTTAATGTCTCTCAATGTGCTTGCATTATTCAGTTTCAAAGAGCTGAACAAAGATACAGGGAAAACAACACTTGCCTCAAATGGCCAACAATTAAATTCGCCCCCACAGACAAGCCAGACTCAGTTCAGCCATCTGCTAGTCATCCAAAGGAAGGAAGAGACATGACTGGAGAGTCACAGGAAATGGTTTTGTGACCTAGATAGCAGCTGTAGAATTAGGACCTTTGTTCTTAGTTTGGCCACATAGTAAATTGTAAATCCTAAAGGATGTGTATGTGATAAATTTTACATATGCATCATATATGAATATATGATACAAATATACACATATTTAAGCATGTATTTTTATTACAGACACTTTTCTGTTTTTGTTGAGACAGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCAGACACTTTTCTGTTTTATACTTGTTTCATTTATGTAGGAATATGTATTGTAAATAAATGCACATACATGCATAAATATAGACACAAACACACATATGGATACAGACACATACACACACTCATCATATAGTCAGAGTAGCAGAAATCTTAGAAATCAGCCTGCTTCTGTTGTTTCATTCATGAAGAAACAAGAACTCAAAAAAATATTTAATTCACCAAAGACACACAGTTAGATGTAGATGTTGCTAGAAGTTTATAGAGTTCTTATAAGTTCCTACCTAAATCTCTATCTATCTGATTCTAGGCTGTGGAATCAGGCAGAACCTAGGATAGAATGCCGTATCCATCAATTACCAATTATTCTGAGATACCACTTTTTGATTTGTAAAATGAATACAATAATCTCTATTTTAAATGGGGTGACATAAAGGCTAAGTGAGGCCAACTGTGTGAGGCCTCCATCACTATACCTGTACATAGAGGCTGCTCAATAAACAGTCCTTTTCTCCCAATTTTCATTGTCTACAGCTATGCAATATGCATTATCCTATAAATTTACTATTGAGTTAATATGCTTGATTTAACCTTCATGTCCACTTAATTTTCAAAATTATTTTTAGCCACTGGTTGGTTGAATAGATAGAGATGGATTTAAAGTAATAGAAAAGCAGCAGTTGTAACTTAGAACAAACCATGACTTGGGTATGTCTATATCACTTTCGGTCTCACACACTCCACACAGGGCTGCATTCTGTGGAAGGGTCTTGTATTATCTATGAATATGCACTGTTTTTCCTAGTTCAGGCATACAAAGATCAGTACTGTAATGTGGAAAAAAAAAAAAACCCTTGAAGAATGCAATTCTCATTTGTTTCTTTGAAACTTTGTTTTTGAGAATTTCATTCCACTTAACTCAGGACTCTCAGCCTGCCCTGATAATTTATATCTACATTTCAAAGACTATGAATCATAAATGCATATTTCCATCTATTGTACAATCTCTCAACATTGCTTAAAGGAGAGTGAGTGGATTCTTTTTAAATCTAATCTTCCCAGTACTCATCCAGGAAATTTCAAATCCAACAACTTTTCATTCAGATGGGTGTATGTTGTTTCTTGTTCTTTTTTTCAGTACAAACTTCTGAAACCAGCAATAGCAAATATGTGTGCACATTGATTTACCCTAACATGAATAACTGTTTTCCCCAGGGTGAAATTGAAAAATAAAATGAGTGAATGATGGAGAAAATTGAGTAGCTAGGGATTCTAAATGGCCTTTGGTTTGAATTAAGTATTGTACTCCACTTCTGAGTAGTTGAAATCTGTTATTCTACCCCTTGAATTTTCCTTATTTCTTTTGTCCTGTCTTTCTGCCTTTCAGGCAACTGCCATGCTTTGAATGTATGTGTCTCTTCAAAATTCTTAACTGCCAATGTGATAGTATTAGGAGGTGAGGACTTTAGGGGGTAATTAAATCATGAGGGCAGAGCCATCCTGAATGGGATTAATGTTTTTAAAGAAAGGTGTAAGGGAGCTGTTCATCCCTTCTGCCATGTGGGAGCACACTAAGGGGGGCCATCTTGAAAACAGAGAGATGCCCTCACCAGACACCTAAGCTGCCAGCACATTTATCTTGAAATTCCTTGCCTCCAGAACTGTGAGACAATACATTTCTGTTCCTTTTAAATGACCCAGTCTTGGGTATTTTGTTATAGAAGCATGAACAAATTAAGACAGCAACATACTTAAAAAAAAGTTAGCACTGACTATCTATATGTTAGGCACTGTGCTAGTCAATGCAGATATTGACATAGATGTCCTATGTTTTAAAGTGTCTGCAGGCTAGCAAGGGAGAGAGAAACACATAACCATAAACCAAAGTGGCAAATCCACTCTTGTCCCAGAAAGTGAGCTGCTGATGTAAATTTAGTCTCTCAGATAGAATTTCTGTTGCAAAGAGACTATAATGACTAGCTGACAAAAATGTTCCTTTCGGTTTCCTTAGTATAATTATGTTTCTCATATAAATGAATAAATTGACATGTTGGCTTCTAAGTAAATTTTTTGGACTGTGGTGAGTTATTTCTCAAGATCCAGTTGCCACAGGGTGAAATGACAAAACCACAGGACTGACTCCATCTTGCTGAGAAAGTGCTCCGAACACTCAGTAGTTCCAACAAGATGCAGGCCCCCTCATGAGATTCAGCCTGAAGTGTCCACACCGAATATCCCATTACAGCAGCTAGTAAGGAATGGGATAAGTTGTATTTGGGGCTGTCAAAAATGCTTTGAGGTAAATCTCTAGTTGAAGTAACAATTGGGCAGAGACAAAAAGAGAGCAAATATTTGTTGAGTTTCTAGAACATTGTTTTATGTGCTTAGCTTAGAGCAGCTGTTAATTATCTTAAATCACACATTCAGTAAGTAGTAGGTCTTAAATTTGAATCTAAATACACATTCTGCCTATTTTGCTTTTTCAAGAATATTATTAGAGACTATATCAAGAACTGTAAGGTATTTTATGCTTTTTAGAATAGCATTTTCCTAAAAAAGTATTCCTAGGAAATAATAAGAGATGCACAGAAAGGATATCAAGAGTGATCACATTGTGTAATTTATACTAACAAATAAACTGGAAACAACCAAGAGAATCAGCAAGGTAAATGTGGATAAATGAATTACAATGTAGTCATATGATGGACCGTTATACACAAAATTAAAAGCAGCGTTTCATGACAGGAAACATTTTAAGATGTAATGTTAAATATCAAAACAAGAATGCAAAATTTTGAAGTGTATGATTTCACCACGATTTTAACATGCACAGAAAAAAATTGTAAAGGAAATTAAGTGCTTATCTCTAGATGATGAACATACAAGTTAATTTAATTTCTTTTTACTTTTCAGTAATTTTCAAATTTTCTAATATTAAACATATTATTGTAAAGCAATGAAATATTTTTATAGAATTATATTAATCAAGGTGCTTCATATAGTGATTGCAAGTTTTAGGCTGCTGCCACCTGTTTAGTGGGTACAGGGATGCCACCACCCCACTCCTGCTGGTGACCCCTCCCAGCTCATGTGCGTGCACCCTGTGGGGATGCTGTGGCTAGTCGTACATGCAAGTGAGCACAGATCCTGCTGCCACTGCCCTGAGTAAGTGCTTTGACTGCCTCCCCCACGTCAGAGTATTGTGGCCAGTGGGCCAAGAACACCTCAGTCCCTCAAGTACAACAGGTTCCTAATCTTGAGGGGCCAGAAAATGAAGCCCAGAGTAAGGACACACAGCCAAGGAGTGCTGAGTTGAGCCTTCCCCGCTTAAATCTTACAGAAACAAAGCCTGTCAACCTTATTCCACAATAAAATCCCCAAGGGCATCAAAGAAGATAAAAGCGAAAAGAAAAAAAAAATCCAAAGGACAGCAACTTTAAAGACTGAAGGAACATCAGCACACCTAGGTGAGAAAGAAACAGAGAAAGAACTCTGGCAACTTAAAAAGGCTTCCTACCTTCAAATGACTGCACTATTTCCCCAGCAATGGTTCTTAACCAGCCTGAAATGGCTAAAATGTCAGAAATAGAGTTCAGAATATGGATTAATGAAGATCACTGAGATTCAGGAGAAAGTCAAAACCCAATCCAAGGATACTAAGGAATACAATAAAATAATACAGGAACTGAAATTTGAAAAGGTTATTTTAAGAAAGAATCAGATTTGACAGAGCTGGAAAACTCACTTCAAGTATTTCATGATACAATCACAAGCATTAACAGCAGAATAGAGCAGCTGAGGAAAGAATCTCAGAGCTCGAAGATTCGTTCTGTAAAATTACTCAGTCAGACAATAAAGAAAAAAGAATAGAAAGGAAAGAACAAAACCTCTGAGGAATATGGAATTGTGAAGAGAGACCAAATTGATGACTTATTGGAATTCTTGAAAGAGAAGGAGAGAAAGCAAGCAACTTGAAAAACATATTTGAGGATATTGTCTATGAAAAATCCCCCAACCTTGCTAGAGAGGTCGAGATTCAATTTGAGGAAATGCAGTAACCCCTGTGAGATACTATCTGAAATGAACTACGCCAAGACACATAGTCATCAAATTTTCTAAGATCGAAATGAAAGAAAAAATGTTAAAGGCAATTAGAGAGAAGGGGCAGGTCACCTACAAAGGGAACCCAAGCAGGCTAACAGCAGATCTTTTAGAAGAAACCCTACAAGCCAGAAGAGATTGCGGGCCTATATTTAGCATTCATAAAGAAAAAAAATTCAACCAAGAATTTCATATCCAGCCAAACTAAGCTTTGTAAATAGAAGAGAAATATGATCCTTTTCCAAAGAGCAAATGCTAAAAGAATTTATTACCACCATACCTGCCTTACAAGAAGTCTTTAAGGGAGAGATATATATGGAAAAGGAAGATGGTTACTGGCCACCAGAAAAACACACTAAAGTACATAGACCATTGCCAATGTAAAGGAACTACACAATCAAGTCTGCATAACAACCACCTAACAAGATGATGACAGGATCCAATCCACACATATTAATATTAACCTTGAATGTAAATGGGCTAAAGCCCCTGTTAAGAGGCTCAGAGTGGCAAGTTGAATAAAGAAGCAAGGTCCAACTTCAAGAGACTCATCTCACATGCAATGACACTTGTAGGCTCAAAGTAAAGGGATGGAGAAAAATCTACCAAGCAAAGAGAAAACAGATTCACAACTGAATTCTATCAGACATCTGGTCCTGGGCTATTTCTGGTTGGTAGGTTTTTTATTACTGATTCCATTTCAGACGTCATTATTGGTCTACTCAGGATTTCAATGTTTTCCTGGTTCAATATTGGGAAGTTGTATGTTTCCAGGAATATATCCATTTGTTCTATGTGTTGCACTTTGTGTGCATAGAGGGGTTAAAAATAGTCCCCAAAGGGCTTTTGTATTTATGTAAGATTGGTTTTAATGTCACCTTTATTATTTCTGATTGTATTTACTTGGATCTTTTTGTTTTTTCTTTATTAGTCCAGCAAGGAGTCTATCAATCTTATTTATTCTATCAAAAAAAAATTCCTGGATCTGTTGATCTTTTATATGGTTTTTCACCTCTCAATTTCATTCTGTACTCCTCTGATTTTGGTTATTTCTTGTCTTGTATTAGCTTGGGGTTTGGTTTGCTCTTTTTTTGTTGTTGTTGTTGTTGTTTGTTCATTTAGTTCCTTTAGGTGTAATGCTAAGTTGTTAATTTGATATCTTTCTAACTTTTTGTTTTGGGTGTTTAGTGCTATAAACTTCCCTCTTAACATTGCTTTAGCTGTGTCTCAGAGATTCTAGTATGTTGTATCTGTGTTTTCATTACTTTTGAAGAATTTCTTGATTTCTGCCATAATTTCCTTGTTTACTCAAAAGTTATTCACAAGCAGGTTGTTTAATTTCCATATAATTCTATGGTTTTGAGAGATTTTCTCAGTATTGATTGCTATTTTTATTGTGCTGTGGTCCAAGAATGTGGTTGGTATGATTTAGGTTTTTTGAATGTGCTGAGGATTGTTTTACAGCCAATTTCATGGTCATTTTAGAGCATATGCCATATGCAGATAACAGAAATGTATATTCTGTTATTCTGGGGTAGAGCTTGCTGTAGATACCTACTAGGTCCATTTAGTTAACTGTGGAATTCAGTTCCAAAATATCTTTGTTAATTTTCTGCCTTGATGGTCTGCCTAATACTTTCAGTGGGGTGTTGATGTCTTCCACTGTTATTGTGTGGTTATTTAAGTCACTTTGTAGGTCTCTAATAACCTGTTTTATGAATCTTGGTGCTCCCGCATTGGGTACACACATATTCAGGCTTGATAGGTCTTGTTGAATTGAGCCCTTTACCATTATGTCATGCTACATTAAGGGAGAATCCTGTGGGGCAAAAGAATCTGAACAGCAGACCTTGAGTTCCAGGTCTTCCCTCTGATATAGTCTACTGAAAAGAGAAGGAACCAGAAAAATAATTCTGGTAATATGACAAAGGTTCTTTAACCCCCAAAAGATCACACTAGCTCACCAGCAATGGATCCAAACCAAGAACAAATCCCTGAATTGCCAGAAAAAGAATTCAGAAGGTCAATTTTTAAGCTAATCAAGGAGGCATCAGAGAAAGATGAAGTCCAAATTAATGAAATTTAAAAAAGGATGTTACAAGACATGAAGGGAAAAATCTTCAATGAAATAGACAGCATACATAAAATGCTACTTCTGGAAATCAAGGACACACTTAGAGAAACATGAAGTGCACTGGAAAGTCTTAGAAATGAAATCGAACAAGCAGAAAAAAAAAAACTTCAGAGCTCAAAGACAAGGTTTTGAAAGTAACCCAATCCAACAAAGAGTTTAAAGTAAACAGAATTTTATGAAATGGTCAAAGTCTCCCAGAAATTTGGGATTATGTTAAACAGCGAAACCTAGGAATAATTGGTGTTCCTGAGGAAGAAGAGAAATCGAAAAGTTTGGAAAACATATTTAAGGGAATAATTGAGGAAAACTTCCCCAGCCTTGCTAGAGATCTAGACATCCAAATACAAGAAGCTCAAAGAACACCTAGGAAATTTATCACAAAAAGATCATTGCTAGGCACATAGTCATCAGGTTATCTAAAGTCAAGACAAAGGAAAGAATCTTAAGGGCTGTGAGGCAAAAGCACCAGGTAACCTATAAAGAAAAACCTATCATATTAAGTGAAGGTTTCTCAGCAGAAACCCTACAAGCTAGAAGGGATTGGGGCTCTATCTTTGGCCTCCTTAAACAAAACAATGATCAGCTAAGAATTTTGTATCCAGTGAAACTAAGTTTCAGATATGAAGGAAAGATACAGTCTTTTTTCAGACACACAATTGCTGAGAGAATTCACCACTTCCAAGCCAGCACTGCAAGAACTGCTAAAAGGAGCTCTAAATCTCAAAACTATTCCTTGAAACACACCAAAATAGAACCCCTTTAAAGGATAAATCTCACAAAACCTAGAAAACAAAAACACAATAAATAATAATAATAAACCAAGGTATTCAGGCAACAACTACCACAATGAATACAATAGTACCTCACATCTCAATACTAACATTGAATGTAAATGGCCTAAATGTGCAACTTAAAAGATACGATGGCAGAATGGATAATAATTCACCAACCAAGTATATGCTGTCTTCAAGAAATTCGTCTAACACATTACGACACACATAAACTTAAGGTAAACTCATAGCAAAACAGTACTGTGGTGAACTGGGGACAGATTTGCTGCTACTGCTGCTGCTGCCACTGCCACCACCTCTACCTTCTGTTGCATGGATAAACTGAGGGATGTGGCACTGTTGTGAGAGTCTTACAAATTCCAGGCAGGTACTCCTAGCTGGGACCCGACAATTCAGTTTGCACCCCAAGGCTCTAAATCTCAGCTCCCCTAGGTCCTGGTACCATGTCTTTGGAAGACACACACAGAAAGGACTTAGATACCTTCTGAAAAGGATGGGACAAATAAAACTTATATTCCCTCCTCTCCTCTTGCTTGGAAGATCATTTAAGATTAGGAGATGAAGTGACTTTTCCCACTGAAGGGGACACAGAGGAAACTATGATTAGGAGTTTCCAGACACCTGTGTTCCAGCCATGGTTTCCCTATGTCCTCGCCTTGGGACCCAGCACTACTTACTAAACCTTTTTGAGTAACAGTTTCCTTATCTATAAACAGGAATAATAATAGGACCAACTGCACAGAGCTGTTGTGAAGGAAAAAAATAATCCATGCAAATGAACACCCAAAATGAGCAGGACTGGCTATTCTTATATCAGACAAAACAAACTTTAAAGTGACAGCAGTTAAAAAAGACAAAGAGTGACATTATATAATGATAAAAGGATCAGTCCAACAGGAAAATGTCACAATCCAAAATACATATGCACCTACCACTAGAGCTCCCAAATTTATAAAACAATTACTACTACACCTAAGAAATGAGATAGACAGCAACATAATAATAGTGAAGGACTTCAATGCTCTACTGACAGCACTAGACAGGTCATCAAGAAAGAAAGTCAACAAAGAAACAATGGATTTAAACTACACCCTAGAACAGATGGACTTAACAGATATTTACAGAATGTTCTGCCCAACAACAGCTGAATATACATTCTATTCATCAGCACACGAAACATTTTAGAAGATAGACCATATGATAGCTCACAAAACAAGTCTCAATAAGTTTAAGAAAATTGGAATTATATCAAGTACTCTGTCAGACCACAATGGAATAAAATTGAAAATTAACTTTAAAAGGACACTCAAAAGTGTGCAAATACATGAATATTAAATAACCTGCTCCTGAATGATTGTTGGGTCAACAACGAAATCAAGATAAACATTAAAAAATTCTTTGAGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGTGGACCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGGTAGCACATGCTCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAAAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGTTGACAGAGCAAGGATCTATCTCAAAAACATAAAATAAAATATAAAATAAATTCTTTGAACTGAACAGTAATAGTGACACTTATCTCTCCTCCTTTCCCAAACATTATAAAAACCCTGTTTCTCTAACTGTACAACTACAAAGTCACTAAAAAAAACCTCAAGATGTAAAACATGTTTTTCCTTAAAAAATAAAAAATAATACATGTCTCAATTAATTAAATAACTGTCTTTGTTTCTCACTTCTATAATATAGTTTCCCCTGCACAAATTTCCCCCCGCCTCATGAAATACTTAAAAAATAACTTAACTCTTGGTTCAAAACTCAGTCCTTTAAATATTAATCCAACTAGACCAGTAGACCTAAATAATAAATATCCTCCTAAACCCCATCAGTCTCTCTAGTTCCTTAAAAATCCTATCAAAACCTATCAAAGTCTCTGGAATACAGCAAAGGCACTGCTAAGAGAAAAGCTCAAAGCCTTAAATGTCTACATCAAAAAGTCTGAAAGAGCAAAAATAGACAATCTATGGACACACCTCAAGGAACTAGAGAAACAAGAACAAACCAGTCCCAAACCCAGCAGAAGAAAAGAAATAACAAAGATCAGAGAATAACTAAACTAAACTGATACAAACAAATAAAACACAAACAAACAAAAAACAATACAAAAGACAAATGAAAAAAGCTGGTTCTTTGAAAAGGTAAGCAAAATTGATAGGCCCTTTAGTGAGATTAACCAACAAAAGAAGAGAAAGATCCAAACAGGCTAAATTAGATATGAAACAGGAGATATTACAACCTATGCCACAGAAATACAAAAGATCATTTGAGGCTACTATGAATAACTTTATGCACATAAACTAGAAAACCTAAAGGAGATGGATAAACCCCTGGAAATATACAGTCTTTCTAGATTAAACCAGGAGGAAACAGATACTCTGAACAGAGCAATAGCAAACGGTGACATTGAAATAGTAATTAAAAAGTTACCAACAAAAAAAGTCCAGAACTAGATGGATTCATAGCTGAATTCTATCAGATAATCAAAGAAGAATTGGTATCAATCCTATCGACACTATTCCACAACAGAGAGAAAGAGGGAATCCTCCCTAAATCATTCAATGAAGCCAGTATCACTCTAATACCAAAACCAGGAAAGGACATAACATAAAAAGGAAACTACAGACCAATATCCCTGATGAATACAGATGCCAAAATCCTTAACAAAATACTAACTAACCAAATCCAACAGCATATCAAAAAGATAATGCATCATGATCAAGTGGGTTTCATATGAGGGATGCAGGGATGATTTAACACACACACGTTGTATTAGTCCATTCTCATGCTACTATGATGAAAGACCTAAGACTGGGTAATTTATAAAAGAAAAATAGGTTTAATTGACTCACAGTTCTGCATGGCTGGAGAGGCCTCAGGAAATTTACAATCAAGGCAGAAGGCACCTCTTCACAGGGTGGCAGGAGAGAGAATAAGTACTGAGTGAAGGGGGAAACCCCTTATAAAACCATTGGATCTTGTGAGAGCTCACTCGCTATCACAACATGGGGGAAACTGTCACGATGATTCAATTATCTCCATCTGGTCCTGCTCTTGATATGTGATGATTATTACAATTCATGGTGAGATTTGGGTGGGGACACAGAGCCAAACCATATCATTCTGCCCCTGGCCACTCGCAAATCTCATGTCCTCACAATTTGAAACAATCACAGCCTTTCAACAATCCCCCTAAGCCTTAACTCATTCCAGCATTAACCCAAAAGTCAAAGTCCAAAGTCTTATCTGATACAAGGCAAGGACCTTCTTCCTACGAACCTGTAAAATCACAAACAAGTTAGTCACTTCCTAGATACAACAGGGGTACAGGCATTGGATAAATACACCTGTTCCAAATGGGAGAAAATAGCTAAAACAAACGGGCCACAGGTCCCATGCAAGTTCAAAATTCAATAGGGCAGTCATTAAACCTTAAAGTTCCAAAATGATCTCCTCTGACTCCGTGTCTCACATCCAGGTTACACTGATGCAAGAGGTGGGCTCCTATGGCCTTGGGCCACTCCAGCCCTGTGGCTTTGCAGGGTACAGACCCCCACCATGGGTACTTTAGTGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGTGCATGGTGCAAGCTGTCAATGGATCTACCATTTTGGGGTTTGGAGGACAGTGGCCCTCTTCTCACAGCTCCACTAGGCAGTGCCCTAATGGGGACTCTGTGTGGGGGTTTCAATCCCACATTTCCCTTCTGCACTGTCCTGGCAGAAGTTCTCCATGAGAGCCCTGCCCCTGCAGCAAACTTCTGCCTGGACATACAGGTGTTTCCATACATCCTCTGAAATCTAGGCGGAGGTTCCCAAACCAGAATTCTTGACTTCTGTGCATTCACGGACTCAACACCATGTGGAATCTGCCAAAGCTTGGGGCTTGCACCCTCTGAAGTAATGGCACAAGCTTTACCTTGACCCCTTTTAGCCATGGCTGGAGCTAAAGCAGCTGGAATGCAGGACCCCATATCCTGAGGCTGCACAGAGCAGGGGGGCCCTGGACCTGGCCCACTAAACCATTTTTTCCTTCTAGGCCTCTGGGCCTGTGATGGGAGGGACTGCCGGGAAGGTCTTGATATGCTCTGGAGATATTTTCCCCATTGTATTAGTGATTACCATTCAGTTCCTTATTATTTCTGCAAATTGCTGCAGCAGGCTTGAATTTCTCTACAGAAAATGGGTTTTTATTTTCTACTTCATCATCAGGCTGCAAATTTTCCAAACTTTTATGCTCTGTCATATCTTGAATGCTTTGCTGCTTAGAAATTTCTTCCACCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCTCTAGGGTAGGGGCAAAAAGCTGCCAGTCTCTTTGCTAAAGCATAGCAAGAGTCACCTTTACTCCAGTTCCCAACAAATTTCCCATCTCCATCTGAATTCACCTCAGCCAGGACTTCATTGTCCATATTACTATCAGCATTTTGATCAAAGCTATTCAACAAGTCTCTAGGAAGTTCCAAAGTTTCCCATATCTTCCTGTCTTCTGAGCTCTCCAAACTATTCCAAACTCTGCCTGTTATCCAGTTAGAAAGTTGCTTGCACATTTTCAGGTATCTTTACAGCAGAACCCTACTTCTGGTACCAATTTACTGGTACCAGAAGTATTCGTTGATTCTCATGCTGCTGTGAAGAAATACCTGAGACTGAATAATTTATTAAAAAAAGAGGTTTCATTGACTCACAGTTTCACATGGCTGGGGAGGCCTCAGGATACTTACAATCATGGCAGAAGGCACCTCTTCATATGGTGGCAAGAGAGAATGAGAGCCAAGTGAAAGGGAAAGCCCCTTATAAAACCCATGGTATAAAACCCAGATACCATGATAACTTACTCAATACCATGAGAATGACATGGGGGAAACTGACCCCATGATTCAATTATCTCCACCTCGTCCTGCCCTTGACACATGGGGATTATCACTTAAAACAGAGCTACCATTTGACCCAGCAATCCCCTTATTGGGTGTATACCCAAATAAATATAAATTGTTGTGCCATAAAGACACATGCATGCATATGTGTATCACAGCAGTATTCACAATAGTAGGGAATGGAATCAGTCCAAATGTCCATCAATGGTAGACTGGATAAAGAAAATGTAATTTAGTAGCAGGGAAACATTGAGTACACATGGACACAAAGAAGTGAACAACAGACACTGGGGCCTACTTAAGGGTGAAGGATGAGAGGAAGGTGAGGATAGAAAAGCTACCTATCATGTACTATGCTTATTACTGGAGTGATGAAATAATCTGTGCACCAAACCCCTGTGACATGCAGTTTGCCTATTTAACAAACCTGCACATATACTTTTAAGCCTAAAATAAAAGTTTAAGAAATGAAATTTTAAAAAGAAAGTTTTTAAAGGTCTGTCATACTTGTTATCTTTAACATCTGTATTAGTCTATTTTCATACTGCTGCTAATAGAGACATACCCGAGGCTGGGTAATTAACAAAGGAAAGGAGTTTTAATGGTCTCACAGTTGCACATTGCTGGTGAGGCCTCACAATCATGGTGGAAGGTGAAAGAGGAGCAAAGGCATGTCTTCCATGGTGGCAGGCAAGAAAGTATGTGCAGAACTGCCCTTTGTAAAACTATCAGATCTTGTGAGACGTATTCACTATTATGAGAATAGAATGGGAAAACCTGCCCCTATAATTCAATTACTTCCCACTGGGTCCCTCCCAGGACATGTGATATTATGGGAGCTACAATTTAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCATTTTGCCACAGTCCCTCTCAAATCTCATGTCCTCAAAACTCAAAATGCAAGCATGCTTTTCCAACAGTCCCCCAAAGTCTTAACTCATTTCAGCATAATTTAAGAGTCCAACTCCAAAGTTTCATCTGAGACAAAGCAAGTCCTTTCTGCCTATGAACCTGCAAAATCAAAAGCAAGTTAGTTACTTTCTAGATAAAATGAGGGTACATGCATTGGGTAAATACACCCATTCCAGACTGGAGACATTGGCCAAAACAAAGGGGCTACAGGCCCCATGTAAGTTCAAAATCCAGCAGAGCAGTCAAATCTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCACATTCAGGTCACTCTGATGCAAGAGATGGGCTCCCACAGCCTTAGGACACTCTTCCTTGTGGCTTTGTGGGGTATAGCCCCCCCTCCCAGCTGCTTTCACAGGCTGGCATTGAGTGTCTGTGGCTTTCCAAGGCACATGGGTGCAAGCTGTTGGTGGATCTACCATTCTGGGGTCTGGAGGATGATAGCCCTCTTCTCATACCTCCACTAGGCTGTGCCCTAGTGGGGACTCTGTGTGGGGGCTCCAACCCCACATTTCCCTTCTGCACTGCCCTGGCAGAGGTTCTCCATGGGGGCCCTGACCTTGCAGCAAGCTTCTGCCTGGATATCCAGGCATTTCCATACATCCTTTGAAACCTAGGTGAGGGTTCCCAAACCTCGATTCTTGACTTCTGTGCACTGCACCTGCAGGCTCCACACCACGTGGAAGCTGCTAAGGCTTGGGGCTTCCACCCTCTGAAGCCATGGCCTGAGTTGTACCTTGACCCCTTTTAGCTATGGCTGGAGCAGCTCGGATGCAGGGCACCAAATTCCTAGGCTATGCACAGCAGGGAGGCCCTGGATCTGACCCAGAAAACCATTTTCTCCTCCTATGCCTCTGGACCTGTGATGGGAGTCCTACAGCAAAGGTCTCTGACACACCCTGGAGACATTTTCTCCATTATCTTGGTGATTAACATTCGGCTCTTTGTTACTTATGCAAATTTCTGCAGGAGACTTGAATTTCTCCCCAGAAAATGGGTTTTTGTTTTCTGTTGCATCATCAGGCTGCAAATTTTCCAAACTTTTATGCTCTGCTTCCTCTTGAATGTTTTGCCGCTTAGAAATTTCTGCTAGATACCCTAAACCATCTCTTTCAAGTTCAAAGTTTCATAAATCTCTAAGGCAGGTGCAAAATGCCACCAGTCTCTTTTCTAAATTATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCCTCTGAGACCACGTCAGCACTTCATTGTCCATATTACTATCAGCATTTTGGTCGAAGCCATGCAACAAGTCTCTAGAAAGTTCCAAACTTTTTCACATCTTTCTGTCTTCTGAGCCCTCCAAGTCTCTAGGAAGTTCCAAACTTTCCCATATTTTTCTATCTCCTTCTGAGCCCTCCAAACTGTTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTTACTTCTACATTTTCAGGTATATTTAAAGCAGTGCCCCACTCTACCAGTACCAATTTACTGTATTAGTCTGTCCTCATGCTGCTAATAATGACATACCTGGGTAATTCATAAAGGAAAGGAGGTTTAATGGACTCACAATTTCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGTGAAGGAGGAGTAAACGCACATCTTAAATGGCAGCAGACAAGAGCGTATGTGCAGGGGAACTACCTTTTATAAAACCATCAGATCTCATGAGACTTATACACTAGCACATGAACAGCACAGAAAAACCCAATGCCATGATTCAATTGTTTCCCACTGGGTCCCTTCCATGACATGTGGGGATTATGGGAGTTACAATTCAAAATGAGATTTGGGTGGGGACACAGTCAAACCTTATGTCAATGTCATAAGGTAGATTAGAGAGTTACCCATTATTCACCTTTACAGATGAGGCAATGGAGGCTCCCAAATAAATGACAAAGCAATTTGGCTGAGCTCACATAGTGACATTTGAGACATGAATTCTGGTCTTTAATGTTGCTTCCTGACCATTGCTCCATCTTTCTTTTATAACTCTGTATGATTGATGATTAATTCAGAATCTCCTGAAATTTCTCCTGAAACCTCTCCTTTGCCTGCCTCTTCACTTTTTCTGTGAAGAAACTCGCAATGAATGATGAGAACTTGCTCCCCATGCCTATATGCACCCATTTATTTTCTCTACTGAAATATAATTTTCCAATATGTAGACCCATTTATGGACAAATAGTAAACGACTCTCCCTCTAGTTTTGGTAACTCAACCCTAAACTATTTGTAAGCTTCAGAGATAAGTGTCTGAAACTTCAAAGTAAGCTCTTTAGAGTGGAGGCCCATAAACATAACAGTCTTGTCTAATCTGAAAAGTCCAGAGAGCCCAGTTGATAGCTTGGATTGCTTTCTTTTTTAAATGATTATTTTATTATTTTGAAGTTAATCTATTTTAAAGAAGTATTTATATGAGCTAAGAGCCAAGACTTAATGTATCTAGATATCTTTCAATAAACTAGTTGAATATCTAGTCATTGTTCAATTGTTCAAAGGACCTAAGTGATTATTGGCCTGCAGGAAGGCTAGTAATTACTAGGAATTCTAGCTTACTCCTTTTCCCATCCAAGAGAAAGAAGTCCTAGAATTCCTTCAAATGATGGGAGATTAAACTAACCTAACTGATTAATGTCAATGGTAATAAAAATTTGATCTTTTATTACAGCATAGTATCTAAGTTGGCTTTACAATGATTAATTCAGCAACAGTATTTTTCTGGCTCCAAACTCTGCATTCACAGTAGAAAGCAAAACCCAGCAAAGAGGTGAATTTGGGGAAAATACTCTGCAATGCCTTTAATTTTTTTTAATCTCAATTCCTTGGGAGATTAAAACTTATGTGATGAAATAGACTATTACAAATGAAATCAGTATGCTCAGACATGTTGCTTTTGTGAAAAACATGGGAAAATATGAAATATGAACTAGTTAATGTGTAACTAAAAATATGAGCCTTCAGCTGAAAGAATCTGAATTTTGGAAAGGACTCATGTCTTAATCAGCTCAGGCTGCTATCACAAAATATCATAGGCTTAATATAAATTTATTGTTCAAAGTACTTGGGACTGAGAAGTCCAAGATCAAGGTTCTGACAGGGTTTAGTTCCTAGCAAGGGCTCTTTTTCTGGCTTGCAGATGGCTGCCTTCTTGCTGTATCCTCCCATGACCTTTCCTTTGTGCATAGATGTAGTGGAGGGGGAGAGAGACAGAGGGAGGAAGGGAGGGAGGGAGGGGGAGGTGGAGAGGAAGAAGGGGGGTGGGGGGAGAGAGAGAGAGAAGGAATGCCCTCTTACTTTTCTTATAAAACCACTAATACATTGAGGGACCTACCTTCATGACCTAATCTAATCCTAATTAAGTCCCAAAAGCTCCACCTCCAAATACCATCACATTGGGGGATAGGGTTTCATTATATGAATTATGGGGGGACATAAACATTCAGTTCATAACACTGGCATAGATTATAAAGAGCTAACCAGATTTCCAGGAAGCATGTTTCTCTCACTTGAATGGAGATGAGGGCAGCATCTGCTACTGCTCTCCTGCTGGCTAGAAGGAAATAGATTGTGCTCATTCTGCAAAGAAAGAGTTATGCTTGCTGCACCTCAGCTTTCCAGCTCAGAGATTTGCTTCCCGGAGCCAGATGAGCCCCATGGCCTTTAGTGCCTGTCAAAAGACAGTACCTAGATCCTGACAAAGGGGCAGGAAAGCAAGGGGGAAAAGGATACCACAAAGTGAATTGTCAAGAATAAATTAAGATCTGTTGTCAGTCCCAGAACTAATTCCTAGGCTTTCTTTATCCCTGAATAAATAATAAATGACATTGATTTGTATTCTATGTAGCAACAGTCATAGTTCTACAATTATAGCAACTTGGAAGAGCTCTCTAAAGTTTATTATTTTAACTTTTAAAAATTTTTAATCTTTTATTTTTCCAAAAGCAATTTAATACAATTGTAGTTAAACAGTTTTCCCATTTTCTACATGAAAAAAAGCCAACAATAGCATATATACTAACTAAATTTAATTTCAACTATTTTTTCAGTATATCTTATTTATGAAGAAAGGCATTGTGTATTATCTTTAGTTAGATGATTCATGCCTACGTCAGAGTAAGTCTGTTAAAGGATATTATATCCCCTTGCAGATGAATCTGCTTTGCTCTATTTTCCTCTAATGGAGCTGAGGATTCAGGTATGTTTTCCTCAGATAATACTAATTAGAAGGAAAGGTTGGAAAATAAGTATTAATCTCTCATGTTCCCAATATACTCCAGTAGATAATCTGCCTGTGATTACAAGGTAAAATCACAGTTTATTTCAAGTTCACAACTATATAAAGGATAAGGATGTAGCATAATTGCAGGGTAAAAATACTCAGCAGTGTTGGGAATCAGATCCATATAGAATGGTATAGAGCAAGCTATCTGCCTTATGAGAGAAGAAAAAGGTACAGAGTCTATAAGCAATGATATTATTATCCACAAAAACTCTTCCTGAATCAGGCATTCTCAACTCTTGGCTGCATGTTAGAATTATCTGGAAAAATCCTAATGCCCCATGCCACACCCTATCAATTAAATCTGAATATCTGGAATTTGGGCCCAAATATTTGAGGAGCTGATTCCAATGTGCAAGTAAAGCTGAGAAACACTCTGCAATAGCTCCTCACTACAAGTTGCTTTTGCACCAGTCTGGCCTATTGGCACTTTTATAAATGCAAACAATGGTGGACACACTGATGGTCAAACTAAAAAGTCCCTCTGGTAAGTTTTCCTCTCAAGCTTAATCTTATGGCACAGAAGGTGAAAACGTGTTGGCGATTATCAGGGTAAGTCCACCCAAATCCTGGGATAAAGCAATTAGTTACTTTAGGCACAAATCATAATTTCTAATAATCTGTCTGAAGTTAGAAGAATATGAAAATAACACTTAATTTTAATTCTATAACATAGCTATCAAATTTTCTGTAGGTACTATATGGTTATTAGATTGACATTTCTGAAAATTTGTTGGAATAGCACATTTTTCTTCCAAGGAGATTTTACAGGACTTATTTATTCAACAGACATTTCATTGCGTTGTTATTATAATGTCAGCTCTTGTTCTAGGCCTTGGAAATGACATAAGGAATAAGACTAAGTCTATGTATATGGAGCTGATATTCAAGTTGAGCAAGATAGCAAGTCATTAGCATCCCTTGGCTTCTGCTTGGCATCTTATTCAGCCTCTTGCACAATTATTCTCAAAGTTTACTGTGCACAACAGCCACCTGGGGTACTAATTAAAATGTGGTTCTCTAGGTTCTACCCCTGAGATTCAGGCTCAGAAAGTCTAGGAGGGCATTCTAACAAGCGCCTTTGGTAATTCTCATGCAGGTGGTCCATTTATCACTTTGAGGAATACTAGTCTAGCATACTTGTCTGTTTCATTGACTTAGAATGAACACTATGGAATGTCAGGAGGATTACTCAGGGCTTATCTAATAGTAGAAAGATGAAATCTTAAAAGGATAACGCTTGCCATGTAGGTGAATGGCAGCTGTTGGAAATTACTTTCTTGCTTTTAGAACAGAAAATGTAACCTCTACAAGTAGGCAATCTTAGGAGAAAGTTTGACTGGCTACAGATTTGCTTATATTTATCTCAAGAGAGTTATTTAATTTACCCAGATCACCTCAAAATGTGGCTCTTTTGAGTGCAAAGGAGTGTCCAGTAAAATGTAAATCCACAATATTTCCGTGGATTTATATTTTCTTCAATTAATATGAAAATGAAGAAATAACACTGCATGTAAATCCACAATATTTCTGTGGATTTATATTTTACTGGACACTCCTTTGCACTCAAAAGAGCCACATTTTGAGGTGATCTGGGTAATTTAAATAACTATCTTGAGATAAATAAAATATAAATAATGAATTTATATTTTACTGGACACTCCTTTGCACTCAAAAGAGCCAGATTTTGGTGCTTTTGGATTTAAGTTTAAGTTTGGATTTAGCCCCAAAGCACACAATATGAGAAGGGCAGGAGTTAGTATGGGCCTGGGAGGTTATACTTAAAAGCCTTTGTAATTTTAATGACAATTAGGTCAGTTCATCTTGCTAGACTTTACTCAATCAAAGTTTGATTAGATGATTTCCTAGGTTTCATATAAGTAAGAATGCCTTGTGAAGGGTCAACCCAAATCTGCAGATTATGTCTAGCTAAAAATTTTTTAAAAAATGTTTTTCTCAGAGTTCCAATCTTGCATGTTTATCCATGTTTTCCGTAGGCACACATATGGCAACAGAAGGAAGTTTGAAGTGACAACAGACATTACCAAAACAATCTACAGTCAATCATTAGTAGAACTTGTAAAATTGGTCACTTACTCAATTGAACAACCTATTCCCTACAAGGGTGGCCAACTGCCCTGGTTTGTCTGAAACTCAGGGATTATACGGAATGTGCTAAAACCAGGAAGAGCTGGTCACCCTGGTTATCCACCAGCAATTTAAGAGGTACCTGCTGTCTTAGTTTGTAGTGTAGTTTAGGAGATAAAAGTAGCAGACACACAAAAATAATTGAAAAAGAATTCTGTGCTAAACTGGGTGATATTGTCTCCAAGTACAATAGGAATTCCGAGAAAAAAAGGTCAGTGTGGGCTGTAGTTGCTGCAGTTTTATAAATTAGGTGGAACAGGATCCCAATTTTGTGGCTTGCAGTTCTGCTTCCTTCTTTACAAGAAATGTCATCATCCTTTTCATGCTCAAGAAACATGAAAATGACCTAGGATAAATCTTGCATATCTGTCAGTCAGGGACAAGGAATAAGATTAGTTTAAAACTAAATTGACTTTAAAGCTTTGTCTCTTATTTAAATAATTAACATTTATTTATTCATACAATGATGAATGCCAGGAATACAAAAAATAAAATAAAATACAATTTCTGCCCTTGATGTGTTTATTGTCTAGTGAGGCACATATACATTAGTGTGTAAAAAGGTAAGTTCAAGGATATGTGAGGAGACCTGCGATAGAAATATTTGGAGAGTTATGGATACCTTAAAGAGAGAAATATGTGAGAAAGAAATTGGAGTTTAGTAAATAACCCTATCTTTTTCTGTGTTTAATATCAACATCTATTTCAGGACATTCTTAGTTTTAGGTCAGCCAAATGAAATAGCTTGATTGTAGATACTTTGTAGTAAAATAGTCATTTAATATGAAAATGAAGAAATAACACTGCATATTCTAAAGTTCTAATTACTTGGGTTTAGTTGATCAGATGGGCTGACTTTGCTTACCTTGGGGTATACTTTAATAAAGTCAGACAAACTAATCAAAAAAACAACACAGAGGTGTGACTATAGTTAGTGCGTTAGCAAATGCACAGGATATACATTTGGCAAGACTCAGTGCTGTCCCAGGAACCTGAACTTTGGAATTTCCTGAATTTGTGGGGCTTATGGTATTTAAGTGGAAGTTAGGTAGATAGTAAGCTGGCTTTTATAGTTCATCAGTAAGTTAAAACACAGAAAGAAACTCTTAAAAGGAAGAGGGCTATGTCTTTATGAATTATAGTTGCAGTTGCTAAAAATTGCAGAGAGAGAGAGAGGGAAGAATTATTATGTATACACACTGTGCTAGGTGCTGAACCCTTATTAAAGGTGAATAAGATCTAAGATCTGGTTGAGTCAAACATTGCTTGGTGTGAATGCCAGATATGAAAAACAAATACGATATTATTGAGAATAAAGAGAGGTAAGAAAGGGGAAGAAAAAGGATTAAATTAACATTGAGCTTGGAATCAACTAGCCTCATAATTCTAAACATAGAGTGGGCAATTAAATTTGGGAAGCAGATCATACAGTGGATAGAAAGACCATAAACATTAAATCCCACCTCACTGACATGCACAATATTTGTAATAATAAATAGTTGTCATAGTGACATCTAGATAAATATCAAAACAAAACCAACAAAATACCAAACAAACAGAAAATCAGACCAGCCCAGGAAATACAAAAACATCCCAGAAGTAGCCAATAGACAATTCAAGGCAGCTGACTAGGAAGGGTGGAGGGAACTCAGCCCTCTCATCTTTGAGTGAGATTTACTTTCCTAGGGTGCTCACTGGATCCAAGATGGTGCCCTGATTCCATCTCCAGTGTAGAGTGCCCATTGGGCACTCAGGAATTTGTCTTACCCCTGTGAAGAGCCTGGACCATTGGCATTGTGGCAGAAGAACAAGGAGACAGACAGAAGGGATCACTTAACCCAGTTGCTCCAAAAGCCTGTGAAATAAGAATTTGCCTACCTCTCTTCAAGGAAATTTTAGGACATATGTCCTCCTGGTGTGAGTTGTGGGTTTCCTATCCAAAGGCCAAATGCATGGGCTGGCTTTTGTGCACCCAGCCACATGCATAAGATTAATAAGTGTTTGCAGTCTCCCAAGCCTGGTGTGAAAACCACAAAGTAGGACATTGTGCCTTAACAGGTTGTACATGTGAGTTTCAACTTTACATTGATCTTCTATGGATAACTTTAAAGCTTTTTTTTTTTTAATTTGTGTTTCCAGTAGTCAACTTTGAAAAATATCATGATCAAAGGTAAGATGCTATTGCATGAAACATTTAAATTACATTTCTTGGAAACTGACTTTGGAGATTTGTTCCTTGATTCCAGTGTTTTAATCATCTTGCTCGGTGACCTGCTGCATGACTCATCCTGATCCCTAGAGGCTTTCTCTCTTCTTTCTACCTAGATGTTCAACTCTCTTCTTTCTACCTGGAAGTAGTATTTTGTTCATTGCACTTGGTAAGTTCGGACAGGGTCAAATCCTGCCTCTGCCAGTTACCAGGTCTTTCACTCTGGACAAATTATTTAGCCTTTCTGTCTTCTTTTGGGGATGTTAACAAGAATACACATCACAGAGGACTAAAGTAAGGATTGAAGAAGATTGTGTATGCAAAGCACTTAGCACTGTGCCTGACTCACAGTAGTACTCAATACATGCTATTTTTACATGCTTCTGGCACAGGCAGCCCTGACTTACAAATACCTGATTTACTGTGCCCTGTACACGTGAAGAGGATGAAACATTACGAAGGCACTCCAAGAGCCTGCTGCCAACACCAGAAACCCGACTGTTCTAGCTAAACCCCTGATTGCTTCTAAACCAATTACTCAGAAGATGCACAATTCACAGTTTCAGAATCCATATACAGTTCACCAGTCCTCTGTCTGCCTAACTCAATCTCATACCATCACAGAACTAGAACACTTAGATTAGGGCGTCTGGGGTCTATGTTTTTGGCATTCTGCCTCAGAATGAGTGTCCTGATGTTGATACCAGGAGCCAAAAATGCAAATTAAGAAGGGTGATCATGGACCAGCTTGTGGCCTAATGGGGCAGAGGTAACTAACATGTGTGGTCCCAGACTATTATAAGGAACAATTCAATTAAGCCCCAATATGTGCTTTCCAAACCCAAAGGGCACTATACCAGGCAAAGTGTCTTGCCCTTAAATTTGAAGGGGAGCGAAAAATACCAAACTGTAAAATATCTTCATTGGGTTTGTTCCCCTAGCTCCCTGCATTTGCATGAACATGCTAGTCAGTTCAGAATCCTGTGTTTATACCTTTCATTTGGTCAGAAAGATAAAAGATATAAAGAAAGTTTCCCTATTTCTCTTCCCAACTGGCTCCCTGTGTCTGAGTTCCAAGCCACAGCATGTGACAATGGGAAATCTTATCTGTTCCAGTTATTTGCTCTTTGTAGATCTAAAACAGTTTAAGTTATAACAGCATTCCCTAGGCCTTCAGCACAAATAATTCACACTTGCAACCACACTCACAGTTACCGCAGTGTGGTATCATAAAGACTTCAGTTCTGCAAGAGACACTAAATTTAATACCAGCCTTCAGGAGCCAAAAGCCATTGCTCAGTCCTTTGCAGAGAAACCGATTTAATTAAGATGTTTTATGTCCACTTTTACACTTTTAAATGTAGAAATCTAAACATCTATAATATTAAATAATTCTGTCTTTAGAAGCATATTTTTCTCAAAAAAAAAAAAAAAAAAACCAGACTGGCAGGTTTTCATTTACACAAAATATTCCAGCATCAAGAGCCTTCTCAATTAGTTGCCAGGCTTCACTTTGTCTCAGTAAATTAGCAGAATGTAAATGAGCCAAGGTCCATGAAAAATCTCCTCATTGATTGCTTCTCTTGGTTTTGCCTCAAACCCTTCAGGGCTCGAATATTTGACAGTACGCTTTCAACTTACACACTATTTGCATGAAACTGACAGAGCTTTAAAATTTTTTTTTTTAGTCAGAGTGCCTAGAAATGCTCACAATGCATTTTAACAAGTGATAGGCCAGTCTTTCTTCAGGAATATTTGCTTTGAAAGGGTAAGAAATAATTAGACTAGCATGTGCTATCTTTGGTGAGGGTTGGCAACTTAGAACTTGGGAGCTGTTGGCAGGCCCTGGCAGTCATTGTTGGTGTTGTGGGAAGCCTTTCCAGAAGTGTGTCCAAAAATTGTAAGTGGACTCGTTCTGACCTTTTCTGGCCCTGGTCCCACCCTGTTAAAACAAGGTTTTCAGGGTAGGATTCCAAAAGGCAGAGTTGAGGTAGGAAAGCGGGACAGGATGTCATGGAGTGGAAAAAAAAATCACCAATAGTCTAGGGAATTGGGACCTCATTTGAGTCCCGGTTCTGACACTATGTGACCTTGGACAAGCTACTATTCCTGACAACAGCTTCCCCTGGGCTGTGGTACAGAGAGATTGCATGTTGGAGCAATTCCTAGCACCCACCAGTTATAGCACTGTTACTTCTACAAAAGAAAACATATAGAAATGCAAGTAAAAGCTAGGTTCTTACAGAGATAACATGGAACGCACATAAATTTCTTTTTAGAAAAAAATTACTGGCAAATTTTGGTAGTTTATTATTAGTTATCCAATTATACATAACACCCCTGTAGCCCTGTGGCTGAGAGCCAATGATGTTTCACTCTCCAAATGTAATATTTAATTATTGGAAGACTTTTCTGAGAGTTACCTTGATACAGAGGTTTAACTAAAAAAGCAAAAGTTGAACTCTCTCATCTGTAAGTGGGAATCAGCAACAATGACTGCTCCATCCTCTAGGGTTTGCTGTGAGGAGCTATAGAATGTTGCTGAATATAAAGGGCTTTGTGTAAGTGGAAAGGGGGTATCCGTGCATAGATGCCTGGAATGCTGTGTGCAGGATTGGAGGCACCACAGAGAGAGCATGAAGGTATGTGGATTAACATCACGAGGCAGGATGGGAGAGACTCTTGCGGAGAGGCCCAGGGCCCACAGTTGCTGGCAGAGCTCCCAGCAGAAACCTTGGCATGCAGTAAGAGATCTGTAGGTATCCACTGAATGGATGAATGAGTGAATGTTTCAATGAGTAAGTGAATGAATGGTGGAACAAAACTACACAATAGGTTCTGGATTATGAGTTCCAAAACAATGGATTACATTGAAACTCCTATTTCACCCTTGAGCTCTGGTGCATGTGCTAGGTCTGAGAGGGATGGTTCCAGTGACAGATGTTTATGACCAGTCTCAGTAATAGGAAGCAGAGTGTAGAGATTTAGGGCAGGGGCTTTTACATCAGATTGCCTGGGTCCAAATCCCAGATCTACCATGAGCTATTTGAGATGCTCATCATTATCTCTAACACTTCTGTGCCTTAGTTTCTGTAATATGGGGAAGAAGATGGTAATGAAGATGATGAAGATGATGGTGACTACCTCATAATATTCTCATAAGGATTAAATGAGTCAGTACACACAAAGTGTTTAGACAGTGCTTGAAGTTCTCAAAAAATTTTAGTTATTGCATTTGGACAATGAAGTATCATTGGGACCTAACTGTTTGCACTATACTTATAAATATATATATACTACTTCTAAGCAGTTTCACTTGAACTTGAGTGGGAGTTCATGCCCTGGGGAATAAAAAGGCTTAGTATTTGAAGTCAGGGAAACAAAGCCTGAAAACTTGCTCTGATTCTTACTGAGTAAACTTGGACAAATAAATCATTTTTCCTTTTTGAGGCCCAATTCCCAACATGCAAAACAGGGAAAGTAATGATGATACCTTATATGGCTGTCATGAGGAGTAAATTAAATAATACATATGAAAGGGATTTATAAACCTTAAAGACTACTTAACAATTATTGTGGGAAGCAGCCAAGATGGCCAAAGAGGAACAGCTCCAGTCTACAGCTCCCAGCGTGAGCGACACAAAAGATGGGTGATTTCTGCATTTCCATCCTAGGTACCAGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCACAGGACAGTGGGTGCAGCATACCGTACACGAGCTGAAGCAGGGCGAGGCATTGCCTCACTCGGGAAGCACAAGGGGTCAGGAAGTTCCCTTTCCTAGTCAAAGAAAGGGGTGACAGAGGGCACCTGGAAAATGGGGTCACTCCCACCCGAATACTGCGCATTTCCGACGGGCTTAAAAAACGGTGCACCACGAGATTATATCCCGCACATGGCTGGGAAGGTCCTGGCAGCGAGACGCCCACGGAGTCTCCTGATGGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCAGCAGCGAGGCTGGGGGAGGGGTGCCCGCCATTTCCCAGGCTTGCTTAGGTAAACAAAGCAGCCAGGAAACTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCCGCAGACTTAAATGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGTACACAGCTGGAGATCTGAGAACGGGCAGAATGCCTCTTCAAGTGGGTCCCTGACCCCCCACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGTAGGGGCAGACTGACACCTCACACGGCTAGGTAGTCCTCTGAGACAAAACTTCCAGAGGAAGGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGACTCAAGACCCATCAGTGTGCTCTATTCAGGAAACCCATCTCATGTGCAGAGACACATAGAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAAACGACAAAGTTCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAAGAGCACCCAGATTCATAAAGCAAGTCCTAAGAGACCCACAAAGAGTCTTAGACTGCCACACAATAATAATGGGAGACTTTAACACCCCACTGTCAATATTAGACGGATCAACGAGACAGAATGTTAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCCAGCGGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAGGAAACTCACTCAAAACCACTCAACCACATGGAAACTGAACAACCTGCTCCTGAATGACTACTCGGTACATAATGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGATACAACATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGTAGAGGCAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGAAACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATGCTACAAACACCTCTACACAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACACACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCCGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGCTTACCAACAAAAAAGAGTCCAGGACCAGATGGATTCACAGCTGAATTGTACCTGAGGTACAAGGAGGAATTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCAGGCAGAGACACAACCAAAAAAGAGAATTTTATACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGGAGCACATCAAAAAGCGTATACACCATGATCAAGTGGGCTTCAACCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAACCAAAGACAAAAACCACATGATTATCTCAATACATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGTTGGGATGTATCTCAAAATAATAAGAGCTATCTATGAAAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGCTCTGGCCAGGGCAATTAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATTGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCACTCTTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGACACGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATTACTTTCTTCACAGAACTGGAAAAAACTACTGTAAAGTTCATATGGAACCAAAAAAGAGCTCTCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACAGGTACCAAAACAGAGATATAGAGCAATGGAACAGAACAGAGCCCTCAGAAATAATGCAGCATATCTACAACTATCAGATCTTTGACAAACCTAAGAAAAATAAGCAATGGGAAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTATACCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAATACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAACTTGACAAATGGGATCTAATTAAACTAAATAGCTTCTGCACAGCAAAAGAAACTACCGTCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAATGTGGGCGAAGGACATGAGCAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCGCCATCACTCGCCATCACTGGTTTGATTTGATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGTCACATGCGCACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAGTGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCACATATACAACATGGAATACTATAAAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGTGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGTATGGCACACGTATACATATGTAACTAACCCGCACATTGTGCACGTGTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAATAAAATAAAAACAAGGAAAAAAAACAATTATTGTACTATTTTTCCAAATTTGCTTAACATTTGTATAATGGTGAAAAATTTTTAAGTGTTTTTACATACATTGTTTCAGATAGATAACTCGTTACTTTAGTGTTGTCGTAATTACGTATTATGTAACACAAAGTAATAAATTACCCTAATATAATTATATTGTAGGTGGACAGGCTCAGTTAGGTGGTTCTTATTTAGAGTCTCAAATAGGTACAGTTAGAACTTGGCTGTGGCTTGAGGCATCTGAATATTCCACCAGGCAATATTACCAAGGTGGCTTCTTAGGACACATTTTTTTTTTGAATTCTTATTTTGGATTTACAGGGTACATGTGCAGGTTTGTCACATGAGTGTTTTGCATGATGCTGAGATTTAGGGTGTGGATGATCCTGTCACCAAGGTATTGAGCACAGTTCCCAGTGGATAATTTTTCAGCACACACCCCCTTCTCTTCCTACCCCTTATAGTAGTCCCGAGTTTCTATAGTTCCCATCTTTATGTCCATGTGTACTCAGTGTTTAGCTCCCACTTATAAGTGAGAACATGTAGTATTTGGTTTTCTATTTCTGAGTTAATTTGCTGAGGATGTTACTGCACAGGACATGATTTTATTCCTTTTATGCCTGCGTAGTATTTCATGGTGTATACATACCACATTTTCTTTATCCAGTCCACCATTGATGTACACCTAGGTTGATTCCATGTCTTTGATATTGTGAATAGCACTGTGATGAACACATGAGCGCATGTGTCTTTTTGGTGGAATGATTTATTTTCCTTTGGGTATATAGCTAGTAATGGGATTGCTGGGGTGAATGATGGTTCTGTTTTAAGTTTTTTGAGAAATTTCCAACTGCTTTCCACAGTGGCTGAACTAATTTGCATTACCACCCACAGTGTAAAAGCATTCCCTCTTCAGAACCTTGCTGGCATCTGTTCCTTTTTCACTTTTTAATAATTGCCATGCTGACTGGTGTGAGGTGGTATCTCATTGTGGTTTCGATTTGCATATCTTTGATGATTGGTGATGTGGAACGTTTTTCTATATGCTTGTTGACTTCTTTTAAGAAGTATCTGTTCATGTCCTTTGTCCATTTTTGATTACTTTTTTTTCTTGTGGATGTGTTTAAGTTTCTTGTAGATTCTGGATAATAGACTTTTGTCAGATACACAGTTTGTGAATATTTTCTTATACTCTGTGTTGTCTGTGTAGGTTGTCTGTGTAGGTTGTCTGTTTACTCTGTTGACAGTTTCTTTTGCTGTGCAGAAGCTCTTCAGTTTAAGTAGATCCTACTTGTTGATTTTCATTTTTGCTGCAATTGCTTTTGGGGACTTAGCCATAAATTCTTTGCTAAAACTCATGTTCAGGAAGGTATTTCCTAGGTTTTCTTTAGGATTTTTATACTTTAAGGTCTTACATTTCAATCTTCAGCCCATCTTGGGTTAATTTTTGTACATGGTGAAAGGTAAAGTTTCAGTTTCATTCTTCTGCATATGGCTAGCCAGTTATCCCAGCACCATTTATTGAATATGGAGTATTTTCCTCATTGCTTATTTTTTTCAACCTTGCTGAAGATCAGATGGTTGTAGATATGTGGCTTTATTTTTGGGTTTTCTATTCTGTTCCATTTGTCCATGTGTTTGTCTTTGTACAAGTGCTATGCTGTTTTGGTTATTGTAGCCTTATAGTATAGTTCAAAGTTGGTTAATGTGATGCCTCTGGCTTTGTTCTTTTTGCTTAGGATTGCTTTGGCTATTTGGGCTCTTTATTGACTCCATACACATTTTAGAATATTTTTTTCCAATTCTGTGAAAAATGACATTTGTATTTTGATAGGAATGGCAGTAAATCTGTAAATTGCTTTGGAAAGTATGGTTGTTTTAATGATGTCAATTCTTCCACTCCATGAGCATAAAATATTTTTTTATTTGTGTTGTCTCTGATTTCTTTCAGCAATGTTCTGTAGTTCTCTTTATAGATATTTTTCACCTCTTTTGTTGTATTCCTAGTTACTTTAATTTTTTGGTGGTTATTGTGAATGGAATTGTGTTTTTGATTTCGCTCTCAGCTAGGATGTTATTGGTGTATAGAAATGTTACTGATTTTTGTACATTGCTTTTGTATCCTGCACATTTACTGAAGTTGTTTATCAGTTCTAGGACCCTTTTTCACAGAATTTTTAGAATTTTTAAAGTATAGAATCATATTGCCAGCAAGAAGAGAGAGTTTGACTTTTTGTTTTCCTATTTGGATACCTTTTATTTCTTTATCTTGTCTGATTGCTCTGGCTAGGACTTTCAGTGATATGTTGAAGAGAAGTGGTGAGAACAGGCATCCTTGTCTCATTCTAGTTTTCAAGGGGAATTGTTCCAGGTTTTGGCCATTTAGTATGATGTTGGCTATGAGTTTTCATAGCTGGCTCTAATTATTCTGAAGTATGTTCTTTGATGCCTAGTCTGTTGAGGGCTTTATCCTGAAGGGATTTTGGATTTTATCAAAGGCTTTCTTTACATCTATTGAAATGATCATATAGTGTTTTTTTTGGTTCTGTTTATTTGAATCACAATTATTGATTTGTATAGGCTGAACTACCTTTGCCTACCAAGAATAAGAGCCTATTTGATCATGGTGAATTAACTTTTTGATGTGCTGCTGGATTTAGTTTGCTAGTATTTTGTTGAAGATTTTTGTGTCTATGATCATAAGGGATATTGGCCTGAAGTTTTCTTTTTTCTCTGTGTCTCTTCCAGATTTTGGTATTAGGCTGATGCTAACCTAATAGAATGAGTGAGGGAGGAGCAATTTCTTTTTTATTTTTTTGAAATAGTTTCAGTAGAATTGGTACTAGGTCTTTTATATCTGGAAAAATTTGTCTTTGAATCCATCTGGTCCAGGGCTTTTTTGGTTGGTAGGTTTTTAATTACTGACTCAATATCAGAACTTGTTATTGGTCTACTTACATTTTCACTTACAGATTGTGTTTCCAGGAATTATCTATTTCCTCCAGATTTTCTAATTTGTGTGCATAGAGGTATGCATAATGGTCTCTAAGAATATTTTGTATTTCTATAGCACCAGTTCTAACGTCATTTGCTGTTGTGTTTATTTGAATCTTCTTCTTTTTTTTCTTTGTTAATCTAGCCATTGGTCTATCAATCTTGTTTATTCTTTTGAAAAACCAACTCTTGGTTTTATTGATCTCTTATATGGATTTTTAAATCTCGATTTCATTCAGTTATTCTCTCATTTTAGGTATTAGTTATTTCTTTTTTTCTGCTAGGTTTGGGGTTGCTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTAGTTTATCTAGGTATGATCAATTGGATCTAATATACATCTCCAGGATACTCCACCCAACAAACACAGAATATACATTCTTCTCAACTGCATACAGAACATATTTTAAGATTGACCACATGCTCAGTCATAAAGCAAGTCTCGATACATTAAAAAATCAAAATCATACCATGCAAACTCTTGGACCACAGTGCAATAAAAATAGAGATCAATACTATGATCTCTTAAAACTACACAAAACAGGAAAATTAAACAATTTGGTCCTGAATAATTCTTGGGTGAAAAATGAAATTATGGCAGAAATAAAAAATTCTTTGATATTAATGAAATAGAGACACAACTTACTAAAATATTTGGGATGCAGATAATGCAGTGTAAGAGGAAAGTTCATAGCACCCGATGCCTTCATGAAGAAGTTAGAAAAATCTAAAATTATTAATGTGGGTTCTTAGTCAACCTATCTGGCACCTGGGCCAGGAGGGCAGGAGTAAGCAGGTGGCTGGCCAGGCCTCCTTCTCTATGCTCCCTCTCTACATAACTAGCTTGGATTTCCTATGAGCAGAAAGCTTCAAGGTAGTCAGGCTTCTTACACGGGGGGCTGGCTCTGTCCAAAATGATTGTTCTAAGATATCAAAGGAGAAATCATAAGGCTTTTTATGACCGTTCCTCAATATCATTTTTCTTGAATTCTATTGGTTACCAGCGAGTTGTAATCCACATTCACAAAAAGGAGACCTATAAACTCATGGCAGAAAGCATGGTTCATTAAGGAGCCATCTTTGGAGATTAGCTATTATTTATTATACAAGTAATAGTCGTTTATCATATGACTCCCAAACTCAGGAGCTCATTCTACACAAAGTGCATCTTTTCTTGAATTTTAATTTGTTGGTAAGACTTGACAGCCAGCTCACATATATAAATCTTCAAAAAATTATGGAAATGCTAAAAATTAAGTTCCTTTTAACAACTCTTAACTTTAAGAGACGTTACTGTGTACAAAACATAATACATAAGAAAAACAACCCAGTCAAACCTGATTTCTTTATGACGAAGAGAAACTCAGATAAGTTTCAGACATTGTGTTCCTAATGCTGCCCAATAGCCTCAATCAGTGCTCCAGACTCTGGAGTTGCCCTTCCTTTGATCCATAAGGTACTGTGAAGCATTGGGACGCAGCAACTGTTCAAGGAATTTCATTATATATAATGCCACCTGAAGAAACTGTTCTAGTGATTGCCACTGCATTGTCATCAATTATAAATATCATTCAACCATCCACTTATTCATTCCGTTTTTTAACATGTAAATTCTTTTTTAAAATTTAATTTTTAATTGACAAAAATTGTCTATATCTAAGGAGTACAATGGGATGTTATGACATCTTTATATATTGTAGAATGATTAAATCAGGCTATTTACCTCATGTATTTATTCTCTGTAGTGAGAATGTTTAAAATATCCTCTTTAAGTAATTTTGAAATATAGTACAAGGTTTTAATTAGACAGGAGAAATAGGTTAATCTTTATTTCTTCTTTTATTCAGATCAATAGCTTTCATATCTGAGACACTGGTTTGGCATCATGTACCATTAGCCTCTGTGTTTGTGCAAGCACAAAGGCACATACATGTTAAAGTAAATATCTTAAGAATGGTTTCCAGAAAGAAAATAAGCTTAATAGAAGGATTAATTTTTTTAACCTCCTAATGTTTGTACTGTGAAACTTTTTCTACTTACTGTTCACATAACAGTTTCTGCTCTCCAGCTTCTAAGTCACTGTGCATGTCATACTTCAAAAGTCTAGCTCACTTCTTTAGTGGATTGTTCCTGATTATTGTAATTTGCAGTGATCTCACTTACCTCTTACACTTGTAGTATCATTTGTCTGTTCTATTCCCTGACACTTGCATAGTGCTTCATGTCATACCTTGAGTTCCCACATTTACTAAACTATCTATTAATACCTAAAGAACCTCCTCTATCACTCTTTACTTTTTTATCTTGCTTTATTTTTATGTACTGGATTTATTGATGCCAAACATGTGTTATATAATTTATGTACTTATTTGGGTTTCATGTATTTTGTTCAATGGTATATAAATACCATCAAAGCAGGAATTTTGTCTGTTTTATTCATTGTTGTATCTTTAGCACCAGTGAAAGTGTCTGATACAGTAGATAATAAATGTTTTGGGAATGAATAATTGTGTGGTGACTGAGTCTTCTAGGCCTGTGCATGCCCTTGGCATATTCATACCCAGAATTTGCTGGTGGATAAACAGGCACGTTGCTCATGCTTCAGCCTTTCAGTGTGCCAAATGGACAGTATGTCACTTCTATCCTATCTTGTAGAGATGCTGTGAGTATGACACTTGGGCTAGGAGGGCTGGAGTAGCTGGGGCTGGCCAGGCCTCCTTCTCTATGCTAAAAAGTGATCTTGAGTGGTGTCCTAATTCATTGATTAATAATAGCACAAGTGTTCCTGGGGTATAGTCACAGTTTCAGCTTGTAAATTGTTCTGTGGTTACTTCAATTAAAAAGAAAATGCATTTAATCATAAGCTACTTCATTCGAATGTAACACTGTGAACTATGTCAGATTAATTATCCCCTGTAACAGACAGAACAAATTACCCTTCACTGTTATCATCCCCCAGTGATCCTATTCCTTCCTGCTTTATACTGCTGTATATAATCTTGTAAAAATCTGTGAGCCTGGACAACATGGGGTACCCCAAATTCAACCAAGGCCACAGGTGTTGATTTTCTTGTCATTCTGTTCCTGCAGTATGGCATTATCACTCAGCTTTGAACTTCAGGAAGGGCAAGAGCAGTGTGATGCTGAGCAGGTGCTACAGTGTGGGCCAGATGCACCATTTGCAGCATCTGTGGAGCCCTAGACCCCCTAGGCCGTGGATTTCTGCAGACATAACAGGCTGCCTACATTGAAATAATTTCATCCAGGTATTTTATGTAAATTCTAAGCAGCAGGGCTCACTTTCTAAGATGTAACACTGGACTTTTCCCATCAGCTTTATGGTGAACCTGGGAAGGAACATTAAAAAACTGGGAGGCAGAGGAAATTAATTTTTGGAGGACTACCTTACCCTTTATAGCCTCATGCTCCTTTTCACCCTTGGGGTTCCCTTCTGATACTTATCTACCTCTATTTTTCATATTTACCTAGTCCTCTTTTATTCATTCATTCATTCACTCATTCATTCCTTCACTCAGCATACATTGATCAGATGCCTAACATATGCCAGGCACCAGGTACATGAAAGCACATAAGGATCAACAACTAGGACACAGCTCATGCCCTCAAGAGTTCAAAGTACAAGAAGGAGGAAATCTGTAGTGCTTCACTTTTCAAGGGACAACTTTCAACCAGTACTAAGCCACTCAGCTCATTCAGCTTGCCGCATGTGAACATACATGGTCTGATCTGAGCACTAGGTCTGAGCAGAGTCAGGGTAAGATGGTGACATGGGTGTAGGGAGCAGGAACAAAACAGCATGTCTTGTTTCTCAAGAAACTCATGGTCTAGAGGAGAAAAAAAGGGCTGTTAACAAAAACGGGTATAATGGAAGGGAGAGCAAGGTTAAGGTCAGCAAGAGAAATTTTTAAAATGCTATGGACATTCAGAAGGAGAGTTTACATTCAGGGTCTGAGAGCAGAGAAGAAAGACCAGGGAATGCTGCATGAAGGAGGCGCTAGTTCATTTGGAGGTTGAAGGATGGCTGGAATTTCTTCAGGCTGTTGGGGAGGACTTCCAGACCTAGAAAAAAGTGTGGCAGAGAGACAGCATATAATTTTTTTTAGCAAAGATGGCTTTACATGCCCAAGTGAGAGACTAGTGTTTCACTAACTTACAGAGAGGAGTCCCTTGAGACTTTTGAACAATTGACTTATGACTGATTGCTCAGAGCTGTTCTTTAAGATGAGCAGTTTTCAGTCTCGGGTGGGATAGGCTTGAACCAGATGAGTCTGGGCACCAGTGAGCAGGCTACTCTGGGAGAGATAATGAGGTGATGGTAATGGGACCCCTGCAAAGAGACAGTACTCAAGTGATGCTTATGAAGCTAGCATTTTCAACTCAATGAATGTGGGGATAGAAGAGGTGAGGAGTTAAAGACAGAGCTGCAGAAAAGGTTTTCTGGTAACACCAAAGGGCTTTCCCTGCCCACCTTGATGACACTGCATCTTAAGGAAGTCCTCACTTCAGTCTGTTAACCTTAGTTAACTCCTCATTGTGACCTTTGGCATTTTTAGTAACAGTTCTGATATCAAAACATGTGAAACATTATTCAATGGCTTAGATTTATTCACTGCTTGGACTCTACCAAAGCCTCTTTGAGTGATTTTGTCGTTGTTGTTTTGGACCTTTCATACTACTGCTTGCACATTTGCAATGATCTTGTATGTCCAGGAGATGCAGCCTAATTGTGTGGTGCCATCACTCACGGACCCTGGGATTCATTTCCCTCAGCAATGCATATGAGAGCAATCACTATTTCCATGCCATTCTCCTGTATCCTACATCAGGAAAGTGCTGTCAAGTAGATTTCTAGCAGAAGTTAGATGCTTTCCCATTGGTCCCCCTGCTCCTTTTGTGTTGTCCTTCTTGTGATCACAAATGTGCATGTAGGTCTGGCGAAACAGGACCAGAGGCCCCATGAATCCACAGAATATGGAAATTACTCTGGATGGGCCACCACATGATCTGAAGGGCAATTATACATCTTTATATCCTAAAATATCTCCCCAATAAACTTTTTATATGAGAACAACTCCATTATTCATGTATTCATTCATTAATCCATTCATCCATTCAACAAATAAGTGTCTCCTTTCAGCCTGATACTGACCTAGCATACACAATGCCAACATCTTAGCTGTTAAAACATACAAATACACAAATTCTTCATTACTAGTTTGTAAACAGCCATAACTCAGATCCCTCTGAGTGCCCACTGTTTTCTTCAGACAGTTCCAGGAGCCCCAGCCCTTCCTTGGGAATTCCCTACACCAACACACACACATATTTCCACAGAATCCCACAGCTAAAAGCTCAACCCCTCCTACTTGGTGGCTGAGGTGAAAGAATCACACAAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGCACAACTACATTTCAGCCTGGGTGACAGAATGAGACTCCATCTCTCTAAAACAAGGAATAATGAATGAATGAATGAATGAATGAAGTACTTTTTAAAAGTCTTAATCCCCGTACATCTTTGCAGCCAGCATCTTTTCTGATTGGTTGGTAAACACTCTGCACCTATTGTTATATACTAAAAATAACACTCCTGATTTTATCCACTACCAGATACCAGATGAAAGATGAAATCCTAGAACCTTTGGAAGAACTAGGCTATGATCTTGACTTCATGTAGCTTCCAGTCTCTGTGGTATATTTGAGCAAGTGCATAATCAATTGGAATATATGTAGGAAAGGTGTGGTAGGCTAAATAATGCACCCCAGAGATTGTTCATGACCTAATCCTTGGAATCTTGAATGTTATCTTAAATAGCAAAGACTTTGAATGTGCTTAATCTTGATATGGAGGGATTATCCTGAATTAATCAGGTCCACCCTAAATACAATCATGTTTAGAGAGTGGCAGCGGAAGCTACAAACAAACAGAAGAGATGAGGCTATGGACCACAGAGCAGAGATTGGCAGCTACAAGACAGGGAATGCTGGCAGCTGCCAGAAGCTGGGGGAGGCAAGAATGCCTTCTCCCATAGAGCCTCTGCAGTAAGTGTGGCCATGCTGACACCTCGATTTCAACTTAATGATACTCAGTTTGGACTTCTGGTCTCAAGAATTGTGAGATAATGAATCTCTGTTGTTTTATACCACATAGTTTGTGACAATTTGTAGCAGTAGCCACAGGAAACTCATATAGAAGAGTTAAGTGGACCTCAAATAGAAGCAGAAGGTTCTATGGGTGGTAGAGAAGGGAGAACTTAGTTCTCTTGGGGCCATCTAAAAAGGCTTCAGAGAGGTAATGGCAATGGATCTTGGCCTTGAAAAATGAGCAGGAATTGTGTGTGCAGAGGTGTCTGACAGAAGTAACAGTGTGAGGAACCAGCAGTCCTTCCATTTGTCTGGAGTGCAGCTTCTAAGGGGGACGAAAGAAAGCAGAACAGAGTAAAACAATAGGGAGTGGTGGGGCCATATTGAAAAGAAGAGCACATGTCCTACATCTAGGGGTTAAAATTCAGTATAAACACAGCCCTAACTCTGTACTAACCAGAGTTATTACGCCTGGATGGACAAAGGGGTTAGTTGGGGATGAAATTTACACACGGAGAACGCAGAACACAGAAGCCATGTAGGATAGGCTGAGCAATTTGGCTAGGTCATGCACAGTGGTGGAATTAATTATCCAGATAGTGAAATGAAAAGAACTAGTCTTCAGGCGAGTCACTTCTATCTAGAAAAATATGTAGATGTGTGATTTCTAGGTCACTTTTGAAGAGTGTGTATTGGCTAGAAAAGAAAGAAGACTTTAGGAAAGAGAGCTTTCCATATAAGCACAGATTGGCTTAATGATTGGCAAATAGTCACCTTGAAAGTCCCAAGGGCTAGGTTTAAGAGTGGGAGAGAGTTGACACGTGTCAATGAGGAAGAGGCAGGATCTTAGATACGATTTTCTGTGAAAAGGCCATATGATCACATGGGGAGGAAAGGTGACAATAATAAATCAAGGACGCTAAACTTTACCCATAACAGCTGGGGAGGGCTGCTGACCATGCAGAGCCTTGGTTTTGGCCTCATGAGCACCTTATTACACTCCCCTGAGTTAAGCCCTAGAGACTCCATCCTTGGTATTTCCCCTATGCTTGTCCAAGGTCAGTAGATGTTTATCACAGTCAGTTAGAAATTTGTGTAGATGTCTCTATTTTCCAAAACAATGAGAAGGAAAATGGGGCTGACCCTATATATCTAAGTAAATTTTTTATTTATTTTAGAGTCCTGTCTTAAAGATTACATCTTACCCAAACAATTAAAATTAGTATGCTTGCTTATCATTGCCTTTCTCACCCACTTCAGATTGCAATGATGATTTTTATTAGTTGAATTTGGATGCTCTTAGAACTCATAATTGACTTTTAATTAAGTGCCAAACTATTTCCAACAGTTTTACATACCCTAAGGATTTCTGTCCCAATTCTAATTTACTTCAGATGCCTCCCAGCGCATGAAGGGATGCAGAAATGCACTTGAATGCAGAGCTGCGAGAAGAAATCATGGTATGCTTTTAAAAAAATTGTTAAAGAAAACCAATGCCTTCTTTTTAAAAGAATTGCTATGTCTTGTGCTGATGTGCATTATGTTCACAGCTACCCAGTAATTACTTCGGAGTCCTAGCTAAAGGTTTGATTCAAAAGTCAGATCTTAAAACAAAAATTATGTGTAGACAAAATTACCCTTGGCGTTCCTTGATATTGTCTTGAACAACAAGTAATAGTGACATGTAAGCATATAATACATATTTAAATTAACAGCATATAATCAAATGTCATTAGGCAAAATCTAATTCTGTAGTAAGTTTATGGTTACAAGAAGAAAGGTTCACAACTAGCTGGACAAGACACCAAACCATGAGAACTAAGGCAACGGAAGGAGCACAGATTAGCATTGTTATGTCTTCGAGGACACTAAGCACACTCCTAACTTAAGGCCATTGTACTGGAAAGGCCCTACCTGGAGAGCTTTTGCCTCCTCTGTGGCATTCTCCTGTTTAATCTTTCACATTTCCAGACAAATGTCATCTTATCAGAGAGGTGTTCTCTGGCCACTCTATACAGAAAAAGCTGCTTTATTTTTCTTCATTAGTTGGGATGATTAATAACTGGAGTGAATATAGAATGAATAAGTGATCTTTTCTAAGAGCATAATTAAAATTAGCATGTATCAGTAAAGGTACTTGCTAAGTTCTGAGTACAGTGAACCCAAATTTACTATTCCTTTTACTCATTCACTTCCTTGTTCCTCCATTCACTCAACAAGTATTTATCAAATACCCACTCTGTCCCAAGTGCTGTTCTCAGCAAAGGGAATGCAATGAAATAAACAAACAAATAAACAAGGTTCTTGCCTCCTGAAAGTAACTTTCAGTGAGGAAGACAAAAAGCAAACAAGAAAGAAAACAAGTAAATTATATAATGTCAAGTAGGGGCATTGTTTAAAAAAAATAAAGCAGAGTAAGAGTGTAGAGATGGGATGCTTGTCTGTTGGATGCCAGTATCTGTTTGGGGGTACAGAGAGCATCTATCTGCCTGTCTTGGGTACACTGGAGCAGATACCTGAATGAAGAATCTAAGTGAAGGGCCCAGTCATGGACCTATCTGCAGGAAGAGTACTAGAGGCCAAAGGAGGAGAAAATGCAAAGCATGGTCAGTGTGACTAGAGCAGCATGATTTTATAGGGAAATGATAGATGAGGCTGAAGAGGGCCAAGTGGTGAGGGGTTTGTAGACCATAATGAGGACTCTGTACTTTTTTAAATGAGATGGGAAAACATTGGAAGGCTTGGTACAGAAGTAATGTGATCTTATTTACAATTGTGAAGAATCACGTAGTTTCAGTGTGAGGAATAGACTCTTCAATGAGGAGCCACCAATGAGGAGGTCAGCACTTCACAGGAGAGATAATTGTGGCTTTGACTAGACTGGGAGGAATGAAGATGGTGAAAGTGGTTGGGCTGGGGCTCTATCTTGAGGACAAATCTCATAGGACTTTCTGTAAGGGTTCGCTTATATGTGAGAGAAAAAAAGGGAAATTAAAAATGACCCCGAGATTTCAAGCCTAAGGACCTAAATGAATGGTATTGCAAATAATGAGTGGGAAAGGCCTAGGTAAGTGCGGCAGGGAGGGGAGAAGTTAGAAATCAATAGTTTCATTTTTGATTAGCTATATTTGACATGTCAATGAACATCCAAGTGAAAGTCTGAGTAGACAGTTGGAGAAACAATTTCCAAGCTTATATCAGTGAGATTTATCTTCCTCAAATCTAAGTATTCTTTAATTATGCTTCTCAATTGCATATATAATTCTATAGCTAGAATTATAAATACATTTGATGGATCACCAATGCCTATGAATAAAGAATAAAGTAACACTTGCGTCCAAAGAAAATATAGGGACATTTACATTTTCAGTCTTATCCCCTATTGGGCCCTGCTGTGGATCACATATTCTATGGTACCTATGTGCCTTTTCTGTACCTTTCAGCTTTTTTGAATTAAGTTGTTCCTTTAGAGGCTCTTCCCCTCAGTGGCATCTATCAAATCAGATGCTACTTTCAATCTTCTTTCTATGTATCTCAAATGCCATCTCTTTCATTAAGCATTTTTGATTATCTCAAATGTCTATGACCTCTCATTCTCTTAATTTCTAGTGAACATCATTTTTTTAATGTCCAGCGGCCCTTTTCTCCACATGGATTTTTATTATAGTTACTTGTGTTTGTAACATTCACCTCCCTTATCAAATGCCTCATCTTTGCAACTGCACCAAACAGTCCCACTGCAGTCTTGGCTGCCAACAGCTCCTATATCATATGTCACATATATGTATTTCAGATATAGAATACTAACCTGTTAGGAGACTCCTTTAGTCATCTGGAACCCTTAAAATGGCTTTTCCAATAGATGTCAATCAGTGTTTAAATAGTTCCTGTTTGTAGGGTGCTTACTGTTCATCAAACCTATGCTGAATCTTTTACTTGTATCATCTTCTTTAAACCTTGTGGTTCCACGTAACAAATATATTTGCATACCCCTGAGGATAACCTATAATAAAAGTGCTTTAATGGTATAACAAAACTGAATTCTCTTTCACAATGATCCTATGAGCAAATGTATAATCTGGGGGCTGCCAAATGGCAAACTGTTTTTATTCAAATTTCTGAAAATATTTACTTATTAGAAAATTGTTATTTATAATTACTACAGTTATTAGGAAAGAAAGGAGGAGAAACTATCAGTTTTATGAATCTTTCATAGACTGCCTTTGTCACATTTGGCACTCTTGCTATGGGAAGCATGGTGAGGTTAACAATATTTGTGGAGTTTTAGCTTGTAACAATTTTAAAATTAGGAAAGTTTGGCTGTATTTCTCTGCATTTTTCTGCTTTTAGTCTACTCTAGACAGAACAACAACAGTTTGGCCAGGTGAATGTTACAAAGCTTGTTTGTGCTTTACAATGTACATTTAAACTTTAACCTGCACTTATGCTTTTAAAGTGCTGTAGAATTCGCCAAGTGTTTTTAAAGTACCGTTAATTACTTCAAATCATCTCATTTTTCCTGAGATTTGAACATTATTTTTATACTTTTACTTATGAAGAACTGTCAGAGAGATTAAATGTACTCATCCACAGCGCCATGGCTTGCAAATGAGGACTGGATCAATGTTCTCTTATTCCAAGCCCAGTACTGTTTCTACTGCAACATACCTGTCAATGTACCTACCAGGTGCATGAGAAGTGATGTATTTATCTAGGATTTCTTTTTAGTTTACGTTTTAAATTTCTCCTATATTTACATTTTACAGTAATTTTTAAAAGGCAATTCATGAACCTGGTTAAAGAAAATCCTGTTACAAATGATATACAGTGAAAAAGAAGTCTCTGAATTTGAGAATGCCACAAAGATAATCCTCCAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCTGATCTCTCAGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGGCCGATATTCCACATTCTCAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCAGAAGTGAAGGAGAAATAAAATCCTTTACACAGAAGCAAATGCTGAGAGTTTTTGTCACCACCAGACCTGCCCTACAAGAGCTCCTGAAGGAAGCACTCAACATGGAAAGGAATAACCGGTACCAGCCACTGCAAAAACATGCCAAATTGTAAAGACCATCGATGCTAGGAAGCAACAGCATCAACTAACAAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCAAACATAACAATATTAACCTTAAATGTAAATGGGCTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCGGTGTGCTGTATTCAGAAAACCCATCTCACATGCAGAGACACACATAGGCTCAAAATAAAGGGATGGAGGAAGATCTGCCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACGGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTGCATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTGAGTGACCTACAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGACTTTAACACCCCACTGTCAACATTAAACAGATCAATGAGACAAAAAGTTAACAAGGATATCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACATAACAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACACTCTTCTCAGCACCACACCACACTTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGAATTAAGAAACTCACTCAAAACCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTCGGCACATAATGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGATACAACATACCAGAATCTCTGGGACACATTTAAAGCAGTGTGCAGAGGAAAATTTATAGCACTAAATGCTCACAAGAGAAAGCAGGAAAGATCGAAAATTGACACCCTAACTTCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAAGCAATGAATCCAGGAGCTGGTTTCTTGAAAAGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGTGGATGTCACCACCGATCCCACAGAAATACAAACTACCATCGGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTTGACACATACACCCTCCCAAGACTAAATCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGAGGTAATAATTAATAGCTTACCATCCAAAAAAAGTCCAGGACCAGACGGATTCACAGCTGAATTCTACCAGAGGTACAAGGAGGAGCTGCTGCCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTGGTCCCAAGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGGGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAGAAAAAGAGGGAATCCTCCCTAACTCATTTTCTGAGGACAGCATCACCCTGATGCCAAAGCCTGGCAGAGACACAACAAAAAAAGAGAATTTTAGACTAATATCCTTGATGAACCATCAACGCAAAAATCCTCAATAAAATACTGGCAAACAGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCAGCATATAAACACAACCAAAGACAAAAACCACATGATTATCTCAATACATGCAGAAAAGGCCTTTTACAAAATTCAACAGCTCCTCATGCTAAAAACTCTAAATAAATTAGGTATTGATGGCACGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACGAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGTCAGGGCAATCAGGCAGGAGGAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTCCAAAAATCACAAGCATTCTCATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGAACTACAAACCACTGCTCAACAAAATAAAAGAGGATACAAACAAATGGAAGAATACTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCTATACTGCCCAAGATAATTTATAGATTCAATGCCATCCCCATCAAGCTACTGATGATTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCTGCATTGCCAAGTAAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTATCAAAACAGAGATATAGACCAATGGAACAGGACAGAGCCCTTAGAAATAATACCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAATAAGAAATAGGTAAACTATTCCCTATTTAACAAATGGTGCTGGGAAAATTGGGTAGTCATATGTAGAAGGCTGAAACTGGATCCCTTCCTTATACCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAATCTTAGACCTAAAACCATAAAAACCCTAGAAGATAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAGAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTCCAATCTAGTCATCCGACAAAGGGCTAATATCCAGAATCTACAAAGAACTCAAACAAATTTACAAGAAAAAAAAAACAAACAACTCCATCAAAAATTGGGGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCCCACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGTCATATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAGGCAGCCATAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGAGAAAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACTTGGACACAGGAAGGGGAACATCACACATTGGGGCCTGTTGTGGGGTTGGGGTAGAGGGGAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGGGTTAATGGGTGCAGCACACCAACGTGGTACATGTGTACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAGAGTATAATAAAAAATATATATATATAAAATAAATAAATGAAAAGAAAAAAAAAGAAAAAGAAGTCTCTTCCTTCCCAGGCCCTATCCTCTTAATTCCTCTTCCTGGGAAAGACTACTTTGGTACCAGATTTTTGGGTATTTTTAATAAATATTTTATATATTTATAAATATGTGAAAATGTTTTATTATTTTTCATATCAAAGTGATTTTTTAAAATATTAAGCGTGCATACTTTAAGACACTTGTTATAATTCAAATACTATATAAGTTATCATTGGAAGTCCCAATAACTTTCATAAATATCCCTTGCTGAAATGGGGGAACCTTTAGTTACCAGATAGGAAAGTACCAGCAAGGACAGCTCAGAATGTGACACCACAAGTATACCTGGAACTTTCCTTGTCTACTCTGGGACTGGGCTTCTTATTGAAATATATAGTATATTTTGGTTTAAGTTTAAAATTTTTTATTATATAGGCACATAAAGTGTCAATTCACTCTACAAGATTGTTTAAAAAAAGAAAATAGCACAACTGTCTTTCCCCTACTTACCTCTTCCCAGGAGCAACCACTTTCTTCTCTTTTAGTTGATTAGGTCTCTTAAAAAGATGTTTGCATTGCTACTTCGCTAACACCTTTAATCTTCCCTTTAGTTAACAATTTTTTGCCCGTTTTGTTTATTTTTGCTTATTTTCCCACAGACAAGTTACTTATCCACTCCCCTACTCCTTGCTAAGCTCCTCTGAAAATATTTAGAGATGTTGATTAAATTTTACTTCCCAGAACAGTTTCTCCCGACCTGCTCCATCCTGGCTTTGTCTTTGGGCTTGAGGCTGAGCTGCCATTCTGGGAATTCTCATGATAATCCAGAAGATTCTCTGCCTTCTTGCCTATGTTGTATTTTTTCTTTTCTATATCCTATGTCTCCCACTTATTGTCTTTCCACTTAATTTCCTGGGATGGAACACATTCTCTATTAACTTTCTGAGAAAGGATTCAGGAAGGCAATTTTGTTGGAGACTTTGCATTCCTCAAAAATTATGTATTCTACTCATCAACCTGATTAAAAATTTGGCTGGCTATAGAATTCTAGTTTAAAAATAATTTTCTTTCAGAATTTGAAGGCATTTACCTACTGCCTTCTAATATTTGAGTGTGCTATTAAGAAGTCTGAAGTCATTTTAATTCCTGATCATTTGCCTGGGGCCTATTTTTTGCTCTTTGAAGGAGTTTTCTTCTTTTCCCTGTTGTTTGGAAACTTCATGATGATGTGGCTCAGTATGGGTTTATGTTTATTCACTGAGTTGAGCAAACAATGGGTTCCTTAAATCTGGAAATTCTTGTCCTGTAATTTGGGAAAATATTCCCTTTAAATTTTTATTTTACATAGTATAAAATATTTATTTTATGATTTCTTATCCTCTGACATTATTTTTTCTTTTATAGTCATTTTAGTGAGATTTTAGAGGGCAAAGTTAACGCTATAGTCAAACTGTCTTCTTTATCCAGAAGTTGCAATTCTACTTTTATGAATTTTTTCTCTTTAGTAATAATTTTTTACTAAAATGTATTAGTTATAAAATTTTTGTAGTAATAATTTAGTAATAATTTTTTCTCTTTAGTAATAATTTTTGTATGAATAAATAATTCCAAAATATCTTGGCCAATGTTATACCTACTTACAGTATTGTTTATGTTATAGAGTTTCCAGTAAAGACATAAAATTTGAGGTAAAATTGTAAACGTGATACTAAAAGATGGTATCTTGACATGGCATTAACACAGTGATAGAAAGAAGACTCAGGAATACCCAAGTCTTGCCTTGTTTTAATCTTCCTTCCTGTATAAGAGGTTCCTGAAGGAGATTCGTGCCCAGGGGAGAAAAAGAAAGTAAAGGTGATATTTTGTTATTAATTAGAGATTTGGTCCCAGATCTTTAAGTTGAACTTTAATAAGAGAGGCTAGAATACAGGAAAGACACATTCTTCCTTATCTAACTAGGGTTAACTACCTAGAACCAAAGAAGGCCATGGTTTCCAACTTGATTAATTATAAGATCACACAGGAATCTTAAATTTCACTATTGATGTATGGAAAAAAAGACAAATCCAGAACACTCCCAGAATAGCACAGAAAAGGCCAAAACAGATAAATGTTGAGAGAAAAAGTTTGTCCAGGACCTACAGCATAGCTAGTTATGGGAATAGTCCCAGAAGAGGTGCATTGTGAAAGTACAACAAAGAATGAAATGGAAAGGTGAAGAAGTTGCTTCCAGTGTCCCTGGCTACCATTTGCACCATTTTGCTTTACTGGGAGGGAAGAGACAGAGAATGGAAAAGATAATTTTTAAAATATCTTGTTTTGTCAAGTAAGAGTGAATCCCTGAGAGAGAGGCAGATGCCATCACTGGCACTGTCACCTAATCATTGCCCTTCAACTTCCCAAATCCTTACTTCTGATAGAGATCCATGCTTGCAGGACTTAGGATGGTGGCTAGGAGCACAGGCCTTTGGTTTTGTCCCTAGTTGCCAATATTTTAAGCACAGTTATGATTTAGTAAGAAGCAGTTTTCAACCTAATTATTTCTCTTTTCTCTATTTCTTCCTCCAGATCTAAATATGGCTTCACCTCTCTCTGGTCAGGGGCAATTAACATTAGGTTAATTCTACTTTTATGAATTTTTTCTCTTTAGTAATAATTTTTTACTAAAATGTATTAGTTATAACATTTTTGTAGTAATAATTTAGTAATAATTTTTTCTCTTTAGTAATAATTTTTGTATGAATAAATAATTCCAAAATATCTTGGCCAATGTTATACCTACTTACAGTATTGCTTAACTGTAAGTTAACAATGACAAATGACAAATGAACTTATTGTGTATAGCAATCATGATAATATTTATATTTTAGAAATGACCTCAAATGCGAGGGAGAAAGAAACAAGGTAGAAGAAAGGAAGGAAAGAAGAGAGGAAGGAAGGAAGGAAGACAGGCATGCCAGTAAACATGTATTGGGCACTTGCTATACACCAGGCACTGTGCATCTTGGTTTCACAAATCTCTCAATTAATCCTGACAACATTAATGAAAAAATAATAGCCATATATATATATTTATATATATAAATATATAAATAAATATATATAAATATATTGTCACCCAGGTACTAAGCAAAGTACCTGACAGTTATTTTTCCTGATCCTCTCCCTCCTGCCATCCTCCTCCCTCAAGTAGGCTCCAGTGTCTGTTGTTCTCTTCTTTGTGCCCATTGGTTCTCATTATTTAGCTCCTGCTTATAAATGAGAGCATGTGATATTTGGTTTTTCTGTTCCTACACTAGTTTGCTAAGGATAATGGCCTCTAGCTTCATCCATATTCCTGCAGGGGACATGATCTTGTTCTTTTTTTATGGCTGCATAATATTTCATAATGTATATGTACTGCATTTCTTTATCCAGTCTACTGTTGATGGGCATTTAGGTTGATTCTGTGTCTTTGCTCTTGTGAATAGTGCTCCAGTGAACATACGTGTGCATGTATCTTAATGGTAGAATGATTTATATTTCTTTGGGTATGTAACCAGTAATGGGATTTCTGGGCCAAGTGATAGTTCTGTTTTTAGTTCTTTAAGGAATCACTACACTGCTTTCCAAAATGGTGGAACTAATTTACATTCCCATCAGCAGTGTATAAACGTTCCCTTTTCTCTGCAATGTCACCATCATCTGTTATTTTTTGACTTTTTAAAAATAGCCATTCTGACAGGCGTGAGATGGTATTTCATTGCAGTTTTGATTTGCATTTCTCTAGTGATATTGAGAGATTTTCATATGTTTGTTGGCTGCATGTATGTCTTCTTTTGAAAAGTCTCTGTTCATGTCCTTTGTCTACTTTTTAATGGGGTTGTTTGATTTTTGCTTGTAAATGTGTTTAAGTTCCTTACAGATTCTGGATATCAGACCTTTGTCAGACGTATAGTTTGCCAATATCTTCTCCCATTCTGTAGGTTGTCTGTTTACTCTGTTGATAGTTTCTTTTGCTCTGCAGAAGCTTTTTATAATTAGATCTCATTTGTCAATTTTTGCTTTTGCTATAATTGCTCTTGGAAAAATAATAGCCATTTTTATGAGTGAGGCAATTTACCATCTGGTGAGGATCAAGGGATTTGCTTAAGGCCTCATGGTGAATCTTGATACCAAAAGGGGAAACTGAAGCAGGTGTTCTTATATGTGAACAAGATCAAAATAGTAAAGGCTATTATTGGAAATTTTGCTTTACTAGAGATTGTGTCTGCCATGACTCTGTAATAGAACCCTCCAAGTCACAGACCTGTCTCCAGGCACTCAGAATCTTGGGTCTAGAGCAAAACAACTCATTCCATTCATAGGTGGAATGAAGGCTCCTAGTCACAGGTCAGGATTAGACCAGGAATGGGTGGGTCTGAACCAACTCAATTTAAAAGTCTCAAAGATGACTGCTAAGTGAAACTAGAGAGTCAAGTCTAGTAAGTGAAATTTTTTCAGTTGAAGAATTTAAAGATGGTGTATTTCCAAGGAATGAAAAGATACAGGCTATGGTCATGTTACTAGATTTCTAAACTGAAGAGGGCAAAATGAAAAATAAAATCAATGGATTGTGAGCTTAGGGTTCTTCTGGTTATATCATTCATTTCCCCAACTCAGTTGAGTTCAACACACATTTAGTGAGTCCCTGCCATGCAATAGAATTGTGTCCTGTCCTAAATAGCCATTTCTGGCTATTATTATTACATCTGAAGATACAAAGGTAAAGTAGCGTTCCTGCCCTTTATGGGTTTGGCCTAGTCTATTGGTTTCCAAGCCTGCCTGTGGGGCAGAATTATCTAGAGAGCATCTTTTAAATCTCCATCCCAAAAGATTCTTTCAGAATGTTTGGGGTGAATCAAGGGATTTTGAATTTTTAACAACTTTCATGGGTGAGCCTTATGTACCTTGTGCATTTCTAGCCCATAGCAAGAATTTGGGCATAAGTGATCTCATTCAGTTGAACACTGACATAATATAGGATGATGGAGAAGAAGACTGACTTCTTCAAACATGTAATTCTTGAATATATAGAGAGAGTGAGCAGTAGGTTAGAAGGGGGCTTGGAACAAAAATGGGTAGGGGGATCATTGGTTGATCTCACAATGAGGGTGAAGGTGAAGGAGTGTGGAAAGCAATGGTCTGGAAGTCACAGTGAGATTCCAGTAGGACAGACACCCCCAACACAGAGGGAGTATGGAAACTGAAGCCATAGCCATTGAAAAGGCTGTAAGGAAAGCACCATCGTTGGAGATGCCAGCTTCCTGGTGAGGCATGGAAGTTGTGGGGGGAAGTAGCAATGTGGGGAATAACTTTGGAAAAGCAGTCAAGAAGGGCAGCAAGAGGAAAGTGTGAGGAGTGCAAATTAACAGGCACAAGATAGGCCAGAGAAGGTGATAGCCTGATTAGCCAGGAAATGAGTTTGGGAGAGAATGGGTGTACACTTTGTGTCATGACTGTGGAGGACTGAGCTAAGGGAGGACAGGGTCTACAGGTAGACAACATAATTTGCCTGTACTCTGTGTACTGCCACCCTTCCTCATTAAGCACATAGTTTACAGGCCACCTTATTTTTTATGAATCCCTAAGAAGTGAAATGCTTTTCCCAGATGTCCCAGCAAATTTATTCCAAGATACTGAAGAAACAAGACAATTCTCCTTTATAGAACCAAGCCTATGTCCTCCTCGAGTCCTTTTATTATTATTTTTTGAGATGGAGCCTTATTCTGTCACCCAGGCTGCATGAACTCGGCTCACTCAACCTCCACCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATGGGCATGCGCCACCAGGCCCAGCTAATTTTTGTATGTTTAGTAGAGACAGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCTGCCCATTTAGGCCTCCCAAAATGCTGGGATTGCAGGTGTGAGCCACCATGACCTGCCTCTCTCTCCAGGCTTCTAAGGGGTTTGATAACTTGACATTAAGAGAAATAATAAAGCTGTCTAACGCCTTGATATGCTGTGCTTTTCTTGGTAAAAATTAAAGGGAGGCTGGAAAACCTTTACTAAAAGAAGACAACTTTGCCTAAGGTTTTTTGGCTGGCAACAACCCCAGGACTTACATAGAAAGGACAGACTGTCAGCAGGCTCATGGAGAATTCATTGTAATTAGTTCTTAAGCAGCCTGATCCCTTGGTAAATTCTGGAGTGAACTCAGTTCAGGAGAAACTGCAACAGCAAATTAGGAGTTAATTGAATGTCATTCATTTCCTCTTTCTCAGCTGCTCCAGGGCTATTTATGCAAACTTTTCCTGGGGGAGCCTACCTCTATTCTCTGTAAAGTGTTAATGACAACTTTCTTTGAAGAGCTCTTGCTATTTGCTTGTTCATTCCATGCTTTATTATTCTTTCCATAGGGTGATTAGCAGATAAGTGGCATTTCTGTTCCCTCCCCAGGCAGTAGCAATAAAATCTCCTATCCCACATTAACATCATGATTTATCATTGATATTCATATCACAGACATGAATTGGGAGTCAGAGACACGAGCTTGTATTTGAGGTCTGCCACTTCTAGCTATGTTACTAGATTAAGTTACATAACCACTCTGAGCTTTATATTTGTTCAGTGGTTATATGGAAGCATAATCGGACCTACTGTTTGGTTGTTGTGTGGATTGAGTGACATGATGCATGCAAAATGCTTAGCAAAATGCATTAGTCTCATTAGTGTCCTAAAAGTGGTAGCATACTTTAGCTTTACAATCATTATCTTACATAACTATTATTTAATTATTATCTAAATCAGCCTTATAATAATCTCATGAGGTAGTCAGGATAGTTCTCATTCTGGCATCATTCGTAGCAAAGGCAGGGGATCTATAGGAAAAAGAAAGCACATGAATAGATAAATGTATAACATCTTATTTCCTACCTTATTTCAATCAGAGGAGGTGTAGAACTAAGGAACCCAAGTAAGGTCTCCGACAACTGTTTCACCCTGCCAAATCTCTGTATGCCTAAACCCTGACATTCTTCTTCTGTCCCCTAAGCCAGGACCCACCTACACCCTCTACCACTGGCTTGGAAATTTAGTCTCCTGCCTACTTTTTGCCAGGATCGTTTTTTGGAAATAGATTCTACTCTGTACTAGCAGCACACAGGGTCCCCATTCTAGCTGTTGCTGGATTAGGAATATTAGTGTTACACACCTGGTTATTGCATGTAGAAGTTTAAGACTGGATGCATAATTTGTGGGGCCCAGTGCCCAAGGAAAACATGGGACTCCTTCTTCAAAAAGTATTAAACATTTCAAGACAGGGACAGCAGAGCATTAAACCATGCACGAGGCCCTTCTGACTGCAGGGCCCTCTGTGACTGCCCAGGTTGCTCACCCAGGAAGCTGATCTTCAATTTAGCTGAAGATCTGCAATTTCACTTGTAAAGTGTTCCTTTGAAATTGCTTACTTCATTCATTAATCAATTTATTCTTTTAACAAATATGTTTCTGAGCTGCTGCTATATATATGTCACACATCAGTCTAAGTCTGAAGATATACCATTAAAAAAATAAGCAAGGTTCCAACTTTCGTGATATTTACTATTATAGGTCACAAGTTGGAAAACTATAACTCATGGGCCAAATCTGGCTTGCCACCTGTTTTTGTACCTCCCACAAACTAGGATTTTTTTTTTTTCATTTTTAAGTACTTAAAGGAATTTTTAAGCTAGGCTTGATGGCTCATGCCTGTAATCCCAGCAGTTTTGGAGGCTGAGACAGGCAGGTTACTTGAGGTCAGGAATTCAAAATCAGCCTGGCCAACATAGCAAAACCCCATCTCTGGTAAAATACAAAAATTAGCTGGATGTGGTGCTGTGCACCTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGTGCCCAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCTTCTCAAAATAAATAAATAAATAAATTTTTTAAAATAATACTTTGTGATGTGAAATTTACATGAAATTCAAGTTTTATAAAATTTGATCAAATTTTATAAAAATTGTTCATAAAGTTTTATTGGAACACAGCTACACCCATTTGTTTAAATATTGTCTATGGCTGCCTTTGCAAAACAGTGGCAGAATTTAGCAGTTCTGACAGAGACTGTTTGGCCTGCAAAGTCTAAAATATTTACCATCTGGTCTTTACAAAAAAAAATGTTTGCCAGTTACTATTGTAGGGGTGCGAGAGACTATAGACAAGTGATAAATTAAACAAGATAATTATGAATTCTGATGAGGACTCTGAAGGAAATATATGGGTGATGAAATCTCATTCCTACCTTTGAACAGGGCAGGAAGACCCTTTGGAGGAGCCGATAATTGAATTGAGTCCTGAAGGACAAAAATGTGCCAGCCATTCAGAGTGCCAGAAAAAAAAGCCTTCCAGGTAGAGGCAACAGTGAGATCGATGGCCTAGGGGTGGGAAAACTCCTGGTTTATCCTATGGATAGAATGAGGTCAACATGGCTGCAGCATCTTGAGAAGGTGGGGAGGATACAAAGTGAGACAGAGAGGTAGGCAGGATGTATGGCTCAGGATCTGAGGCCTTGGTAAGGAGTTAGGGCTTTACTCTGAGAGCAAATAAAAGCTATTAAAGGATTTTAAATAGGGAAGTGGTTCAATCTGATATAAATATTTTTTTGGAAGTCTTCTCTGGCTGTTGTGTGGAGAATGTGTTTTAGGGAGGACAAGAATGAAAGAAAAGAGACAAAATTGGACACTATTAGAGTCCAGGAAAGAGATGAAAGTGGTTTGGATTCAGGTGGCACTGGATTTGGAGAAATGTAGAAGACTTTGGGATATATTTTGAAGGTGGCACCTACCCAGCTTGGTGATAAACTGGCCTAGGAACTGAAGAAAAGGGAGGTTTAAAGACTGTTTCCTAAGCTTCTAACTTGATCAACCGAAGGCTTATGGTGGCACCATTAACTAAGATTAATTGATTCAGTAAATATTTATTGACTGCCTACTACATTATAGTCACTCATCTAGGATATAGTAAATAGCAGTGAACATAACAAAAGAGGCCAATAATCAAATATACACATAACTATATAAAATTTGAAAGGATGACAAATGCAATGGAGAAAACTGAAGGAGAGATAGAGGGAGGCGAAGGCCATGGGAGATTTTAGAGGTAAGAGAAGGTGCCTGAGTATAAAGCAACTCCAAATAGAACTCGACTCCAAGTAAAAGATGATGTTTCTATTTTCCCAGTTAGAATAACCACTCCCTTCAAAAGTTGTCTTTGGCTAATTCATACTATTTAATTTAGTTTAACACATATCTTTAAAATCACATATTACATAAACTAATATAAATATAAAAGTATACCTTTAAAATAAATTACATTAAATTTACCATTTTCTTCACTATGTCCATGTCTGTTTTTTAAATTTTACAGAATCAAAAAATTTAATGTATAGTAGCAATATTAATCATCATTACAGATTTGGCTTGAGAAGTATTTCTCAAAATCTGTAAAGACCTGAATGTAAAGTGAATTTTTTTATTTTTCTAAAATATGATTTGGGATAATAGCTAACTAAATGAACGAATGAATGAACCAATCAACCAATCAATCAATCAGTCCTTACCATGTTCAGACTCATGCAATGCTCATCCAGGAGAGTGGAAAAGCACTTACTGGCAGAGCAGAGGAGGAGGCCAGGTAGCAGAGAGCGCAAGCATTCCCCTTCAGATGTCAGAATACATAAAGGAGATAGAATGTTATCATTTCTATTCTATCTATTCATTTTCTTTACTTAAAAGATCAAGAAGCAGAGAGAGAGAAATGGGAGGTAGGGAGAGAATTTAAAAATACATTGGAAAGCCCAGGCGTGGTAACTCACGCCTGTAATCCCAGCACTTTCGGGAAGTCGAGGTGGATGGATCGCTTGAGTCCAGGAGTTTGAGACCTGCCGGGACAACATGATGAAACCCCATCTCTACAAAAAATACAAAAATTAGACAGGCACAGTGGCATGCGTCTGCAGTCCCAGCTACCTGGGAGGGTGTGGTGGGAGGATTGCTTGAGCCTGGGAGGTCACGGCTGCAGTAAGCCATATTCGTGCCACTGCACACCAGCCTGGGTGAAAAAGTGAGACCCTGTCTCAAAAAAAAAAATGCATTGGAAAACTTAAAAATGTACAAGGAAGTTGACATATATTTCCTTTAACTCTTTTCCCGTTTAGAAAAAAAGTGCAGCTCACTGCCGGCGCACACTTAATTTTACATGAACACGCTCGTTGAGGCTGAAGCAAATCTGACTGATTTTCAATGTGAAAATAAAATATTGTTCTTGGAGTTACTTTTAAACAGAACTAACATAAGAATCATCTGAATCATCAGAATCATCTATTTCAGAAAAATTGGATTCATCACATGAATCTTCAGCCAACAACTGTTCGAGAACAATGTTGACATCACATGTAGGAATGCTATGTTCTCCAGGATTTGACATTTTTAGTGATAGAGAACCACTATGTTTTGTAAGAGGAAGCACCCACTACTAAAAACAGAATGCTATAAATAGAAGGATGTCTTTTGTTTCCAAAGTCAATATACTAGAGGGATGAGAAAATAGTAACAAAAGCAAGATATTTTGTGGCAAAGTTATCTGGAAGCAAATGATGAAGCCTCAAGCACTGCCAGTGAGTATTCGCAGGGCAAGTGGGAAAGGGGTTTTAAGCCATTTTTCTATTTTTTCTCTTTTTTCCCTAAATCAACTTTGAATGCTACTTTTTAACTTAACATTTAAAAAATATGTTATTTTTAGTGGCTGCATAGTTTTTCATCTTATCATTTATTTATTTATTTATTTATTTATTAAAACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGCCGCCATCTCCGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGTGGTTGGCCTGCCTCAGCCTCCGCAGTAGCTGGGATTCCAGGCACCGGCCACCACGCTCGACTGATTTTTTTATTTGTTTGTTTGTTTTTTGAGACAGAGTCTCGCTCTGTGACCCAGGCTGGAGAGCAGTGACGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAGTTCTCCTGTCTCAGCCTGCGGAGTAGCTGGGACTACAGGGACCTGCCGCCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCACATTGGTCAGGCTGGCCTTGAACTCCTGACCTCAGGTTATCCACCCACCTCGGCTTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCTCTCACTGACATTCGATAACATTCTATATCTTGTATGTATTCTGACATCTGAAAGGGAAAGGAAAGCTGTGAATAATGCTTCCAAGGACCGCTACTGTGTGGGACCCGTATATTTCCTTTACAGAGGTGCTGTGACAATGAAGAAATGTACATATATGCCTTTATGGTGTGATATGGTCCAGCTGTGTCTCCACTCAAATCTCATCTTGAATTGTAGCTCCCATAATTCCCACATGTGGGAGGGACCTGGTGGGAGATAATTGAATCATGGGGGTGGTTTTCCCCACACTGTTCTCCTGAATAAGTCTCATGAGATACAATGGTTTTATAAGGGGTTTCCCCTCTTGCTTGGCTCTTGTTCTGTCTTGCCTGCTGCCATGTAAGACATGCTTTTTGCCTTCTGCCATTATTGTGAGGCTTCCCCAGCCATGTGGAACTGTGAGCTCATTAAACCACTTTTTCTTTATAAATTACCCAGTCTGGGTCATGTCTTTATTAGCAGCGTGAGAACAAACTAATACATGGTGTCTGGCTCACAGTTGGTTCTCCATACTTGGTAGCTAGGATCACAGGAGGTTGTGTGGCAGACAGAAAAGAGTAGGCCCTTAAGGGGCCACCAGAGCTTGGCTCAAACCCAACGCTACTTCTGCTTGTCACATGATCTTGGTCAATTTAGTTAACTTCTCTGCTTTTTGTGAAAATTACATGGCACCTATGTAGAGTGGGCACTTAGTCAATGATAGCTATTATTATTGTCATTATTTTAAAAAATGATGACTATACTGATAATTATTTTAAAGTACAAACACCAAACATGGTTTCTGTTCTTGGGCAGAGTATGTGGGGGGGGACATGGGGAGGAAGAGGTACCAGGAGGAGATTGGTGAATAAACTTCAAATGCCCAGTTGTACCTTGTGTAGAAATAGGCCACAGAGGGAGAGAAGAAAACAAATACTTTCACTCCGCCATTTTTATCTGAGAAGATTGCAGTTATTCTTCAGAGAAGATAAAGAGCTGGGAGAATTTGAGTTGGGGGATAGGGCCCAAGATAGGGATGGAATAGGCCAGGAAACCAGAGTAACAGGCATGGAGGGTTAGAAGAGGGGAAGCAGAAATGTGCCCATTTTCCCTCTCTGTTCACCCAAGACCTGTGGTCTGTGGTCTCCTTCCTGATGAAACAATTGCCTTATTAATTTCCAGGTTCTGTTTGGTGGAGGCGGCAGCCAGCAATATTGGTTTGTTTTATATTTATAGACGTCATCAATCCTTTGATGCCTTTAATCTTTGCTGGGCAATGCAATTCTTTCTGTTATTTCTCATGAAAGGCTAAAAAAAAAGCTAACTAAATTATGCCAACCCCTATGTAGGAAAGAGGCTGACATTTTACAAGCAGCAATAATTTTACCACATTACTACTGGGCAATAATCCTTTTTAGGAGCGGATATTTATATTTGTCTAATCAGGGAGATGGTGTTACACTCCATTGACTGATATGTTAAAATTACCTACAATTTCTCCCTTTTCTACACAGAAATATAAGTACTAGATTAAGCCAGGTTTAGTGACAGTTTTACCAAATGAGTTATGTTTTACAATAAGAAGAAACAGACAAAACACACACACACACACACACACACACACACACACACACGCTTTAGCATTAGAAAAACCACTCTACACTGCTACATCATTTGCTAACTTTGCAGACTTGTGCGATCTGTGACTCACTCAGTTTCTTATCTTTAAAATGGAATGATATTTATAGTCTCCATTAATCTATTGTGAAGATTAAAATAGATCATTATTTATAAAGCACTTAGCATAGTACCTGACACACTAATTGCTCAGTCAATGTTAACTTCCTGTTTCTCTCCTTCTTCCCTTCCTTTCTTGCAACAGTCTCTGTGCTCAAGGCCATTTGGCTACCAGACGGAATTGAGGAGAAACAAACTCAAAGTCAGGAGACACAGCTTTTCCATGTATTACTGGAGTCGGTTTAGGTAAATTAGTTCTCTTAACTCTCCTGTCTGTAAATAATGCGGGTAATACTTGTAGTGTCCAGCAACCTAGTTGGTGAGGCATCAGTGGCTCAAAAGAAGAAATGAATGAGAAAGTGGCTTTTAAATAAATAATAAGGCCAGATTCCTGTGACATTTTGAGTAATCATCCAGGGACTAGGAAAGTAACTGGTCTTTACTGTAACTGCCTTTTAAGTTGCCGGTCATTGTAGGTAGAAATTATTTTGAAGGAGGTTCCCAATGGTGAAAAGTCTCCTAGATGCACCCTTTTACATTCCCACCAGCAGTACAAGATTCCAGTTTCTTCACATCCTCACCAACATATAATCTTTTTTTTTTTTGATAATTGTTATCCTAACAGGTGTAAGTAAATATTTCATTGTGGTTTTGATTTCCATTTCCCTGATGTCTGGTGATATTGAACATCTTTCCACATACCTGTTGGCCATTTGTGTCTGCTTTGGATAAATGTCTGTTCAAGTCTTTTTCTCATCTGCTAATTGGGCTTTTGTCTTTTTGTTATTGAGTTGAAGAAGTTCCTTATATATTTTGCATATTACCTATTATAAGATGCATGGTTTTGAAACATTTTCTCCCACTTCTTGGGTTTCTTTTTTTTTTTCACTGTGTTGATTGTTTCCTTGCTGTGTAGACTTTTTTTTTTAGTTTGATGTGGTCTCCCACTTGTCTGTTTTTGCTTTTCTTGCCTTTGCTTTTGGTGTCATATTAAGAAGTCATTGCCAAGACCAGTGTTATGAAACTTTTTCCCTATGTTTTTCTCTAGGAGTTTTACAGTTTAAACCTTAAGTTTTAGCCTGTAATCATTTTGACTTGATTTTTTTTGTGTGTAATATAACATAAGGTACGATAAAATGTTACAGCTACAATGGAAAACATTATGGATGTTCCTAAAAAAATTAAACATAGAAATACCTCTTGGTCCAGCAATCCTATTTATGGGTATATCTCTGAAAGATTGGCCGGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCTGATCATGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACAGAATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCCCTGCAGTCCAGGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCTGAAATCAGAATATTGAAGAGATATTTGCACTCCCATGTTCATTGCAGCATTAGTCACAATAAACAAGATTTGGAAACAAACTCAATGTCCATCACGGTATATATATACAGTAGAATATAATTCTGCCTCGAAAAAATAGGGAATCCTGTCATATACAACAATATAAATGAAGCTTGAGGACATGATGCCAAGTGAAATAAGCCAGTCACAGAGGAACAGGTACTGTATGATACCACTTATATGAGGTATATAGAATAGGCAAGCTCATAGAAACAGAGAGTAGAATGGTGGTTATGAGGAGCTGAGGGAGGGAGAAGTAAGAAGTTGCTATTCATCAAGTATAACGTTTCAGTTATGCCAGATGATTAAGTATACATATCAGCTGGACAACATTACACCTATAATTACCAATACAGTGTTGCACACTGAAATTATTTTTTAACAGGGTAAATTTCATGTTAAGTGTTCTTACCCTAATAATATGCATATAAATTATCTTGGTAAAATTCTGATTCTGATTATGAAATGTTTGCAGTGGAGCCAAAGAGTCGAAATTTCTAGTAGGCTACCAGGTGATGCCAATGCTGCTGGTCTGTGGACCATACTTTGAGTCACAAGTGTTTAGTAGGGGTTGACAAATTATGGCCCATGGGCCAAATCCATCCTGCCACCTGTTTTTGGATGACTCAAGAACTAAGAATGATTTTCACATTTTAAGATTATTTTTAAAAATCAAATGAAGAATAATATTTTCTACCACATAAGAAATATATGCAACTCAAACTTCAGCATCCATAAATAAAATTTCATTGGAACGTAGCAACACGCATTCCTTACAGTTTTGTGAATGGCTGCTTTTGTGCTACAACAGTAGACTTAAGTAGTTGCAACGGGGGCTATATGATTTGCAAAATCTGACATATTTACTATCTGGCCTTTTACAGGAAAAATTTGCCAACTTCTGGAGTAGAGGGTAACTTGGATTGTCAAAGAAGTAAATATTATCCTCCAGGGTTTCATTTTATTTTTTTCATTGCTATCAGCTTCTCACAGCAGCAGCCTTCTGCCTACTGGCATTTCTCACCAGACTCAAAGAGTTTGACCCTCTCTTTTTTTTAAGGCACGATGCTGGGCACATCAAGTTTGAAATGTTATGTAAGTCAGAGTTTACAATGTTATGTAAGTTAGAGTTGCAACATTATATAAGTCAAAGGCTCCTCTTGTGGGAATTACTGACTGGACTGTGTCATTTTCCCTTGCTCTTGTTCAGCCTCACTCCATCATACTACCAGATGTGCTCATACACATGGATGTTGTCTAATGTGCAGAGGAAAACTTTGCTTTAAAGTTTAGAAAACAAAAACAAGTAATTCTATTTATTAACATTATTTGAAAATGGACATTGAGATCTATGTATTTCTACCAAAAAACAGATTAATGTAACCTGTTTTAAATGAAATAATGAAATGGGTCTGTAGAACTTGCATCAGCATGAGAGCTTGCTATCCTCAGATAAGACCCTTAAATCCAATTCTTTATTCATCATGGAGTCCCAGTTTTACCCCTACCATAAGGGAAAATGACTTAAGGTTTCTGCCCACCTCTTTCACCAAAGTTTGCAAGTCTGAAGTGGTGAAAAACAAATTACAGCCACTAAATAAAATTTAAAACTGAAAAATGTGAGAAAAATTACTGCAAACCAGGCCCTGTAAGTCTGTTCTTCTGAGGTTACACAGGGCTGCCTGCAGGTACACTAAGATTCTTCTTCCTTGTTCAAGGGGATGACAAAAGCTCTGTCATACATAGTGGTTATTTTGAAAATATGTCAAAAATTTAACTTATGAAAAGTCCTGAATCATATCTAAGTACATAAGCCTGGTTTAGTTATTCTTCCTAATGGCTCCAGGTTAAGACTAGTCAACATAATTTTCTCTGGTTTGGGGGATAGTCAGGAAACCATGGCTGCTGCCTTCAGTGGTGCGTTCTTTATTATTTTTGGCTCCTAACAACCATAACTGGTTCAGACATGTTGACCTAATCTAGCCATAATAGGGCAGCTTCCTACCAGCTCAGTCCTTATAGAAATTAAGGTGTTAAGAAAGATTGAGTAACCCACATTTCTCTGTGAGCTCTTGTTTTCATAAGTATACACTGATTTTTGTTTCAGGTACTTTCATGGTTAATAAAATTGTCATTTAAAAATAAATAGAGTAAAAATAAATAAAAATTTAAAATTATTTATTAAGTAATTCAGGTACTCATTTGGTACAATAGCCCTATGAAATAAGTTGATTTTTCCATAATGGTTCAATACATTACTCAAAGTCATGCAATTATTTCATGGAAGAGACAAAATTCAAACCCCAGGCTCAATGACTCTGGAACTGATACCCTTTAATTTGAATGTATGTTTTTTCCTGACAGAGTAACTCTCAAATCCCATTGTTAGAGTCTGCTGTCACATAGACCTGGAAAATTCTACAGGCTGTCTCCCCTTCTTAAAGAGTCATAATGTATACCAGCTTATTAACAGCTCCAGGCTTATTAATGGCTTCCCTATATAAATCTATGTATATTTGTTTACTCCCACATTTCTCAAATTTATTTTCCCACTGACCCCATCCTCCTACCACTACCTTTCTTAACACTACGACTAGCAACAATCTGCAAAACACATTTTGGGAAATATTGCACTAAGTCATTCAGGTCCTGTTGTTGATACTGTAGGGATGTGAAATCAATTGAGAGAAAATATTCCAGGACAAAGAGAGAGGGAGGAGAGGGAGAAGAAGAAAGAAGAAGAAGAATAAGAAGGAGAAGAAGGAAGAGTAGGAGGAGGAAGAGGAAGAGGAGGAAGAGGAGGAGAAAGAAAATAAAGGAGAGAAAACAAGAAGAGAAAAAGAAAAAAAGAAAATGCTATATCGTGACTGAATTGAAACATGGAAAGAGGGAGGAAGGAAGGACATTCTTCTGGCAAATCACTCATTTATATTCACTAATATAAATGGAATTTTTAATACTTCAATATTTTGTAGCAATTAATAAAAAAGGTTTGGCAAGCAGCCAGAACATCTTTCAGCTTGTTTTAAGTTCCTGATGGAGGGACACCAAGATTCAGAAGACACAGCCTTTTTCCTCTATGGGATCATAATATATTATAACATAAAACACAAGGATACAGATAGTATCAATAGCACAGACTGCATGACAAGTGCCCCTGGAAATGTACAGGGTTCAAACTTGGGCTCTATAAATTCCTAGCTTGTGTCCTTAGGCAACCTACTTAAACTATCTGTGCCTCAGTTTCCTCATATGTAAAATGATAATAATAGAATAACCTACTTCATAGGGTTGTTGTGAAGATTAAAGTACTCAGAACATTCCTGACATACAGTATGCTTTATAAGTGTCGATTATTATTATTATTATTATTTTTTTTTTTGAGACAGAGTCTGGCCCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAACTGGGACTACAGGCGCCCGCGACCACGCCCTAGCTGGGACTACAGGCGCCCGCGACCACGCCCGGCTGATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGAATTATTAAGTTTTATATCACTATTTTGAAACAAATTCGTAAAAAAATCAGAAATCTGAGAAACAGAGAAAATCCCTAGGAATGCCATGAAAGAGTAAGATGGATGAAAGCAGAAGTGCATGACCTCTGAGTAACCAGTCTCACAGGTTTGTCCCAAACTGTGTGTGAAAAGAAGGAAGGCTGGGCAGAATTCAGCATTTGAATGGCTGGAAGGAGCTGCCATTCTAGAATTGGTATTTGGCAGCATATAGAAAGTAACCAGGAAGACCAAATATCCCAAGGATTGTGGCTAGAGCTGTGAGCAGACTGAGCTGGAAGTGGAATGGAGGGAGATAGACCATGAAGAAACAGCATGCTTACAATGATCCAAGATATTGAACTCACCTACCCTTTACTGTCAATTCAGTAGTTTTGCACTGAATTGACATATCTGTATTGCTGCATATCTGTAAGGAGAGGAGGAGGAATGCAAAGCCAGAAGACCACTGTGCAGTACAAATGTGGAAGAGAATTCTGTAAGAATTAGAGGTTGGTCTTCTTTTCATCTGACAAAAACAAGAAATACATGCAGTCATACTGAAATTCTGTTTGTGTCTCTTATTGGCAGCGGGTGGCTTATCATTGTTTGTCCCGCAGTTGTGTCTGGAAATTGCCAACCAATTAAAACGCACAAAGTTAGCAAAATTGGTTACTCATTTTCCCAAAAATGTATACTGAATGTGCTGTAAATGAACTTGCTTTAGAAAGTTCAGTGAAGTATACAGATTCCAGTTACTGGTAATGACTTAAAATAAGGCAATAAAAATGTCACAGCTGAGTATGGTTTTTACCCTTTAATTTTAGTTCTTGATGTGGCTCACTGAAAACTATAATTGAAATGACTGGTGGAGTTATGACTGCCAAACTCTGTCTTTGTTAATGTCGAAGTAAAAGAAGGTATGAAGCTAGGGGTTGGGGAATGAGAGGAAGCTAGGGGAGGGAATGGCATGGGAGAGTCTGTTGTGGATCTGGATTTATTTTTTTTCTTTTTTTTTTTTTTTGATACAGAGTCTCACTCCGTTGCCTAGGCTGGAGTGCAGTGGAGCCATCCCGGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTATATTTAGTAGAGACAGGGTTTCACCATGTTAGCTAGGCTGATCTTGAACTGCCGACCTCAGGTGATCCTCCTGCCTGGGTCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCGCGCCCTGCCTGGATCTGGACTTCTTATCAGAATTAGTGGTGGGTAAATCCCTGAGGTTTCTTTATAATCTGCCTGGGATTAGATTCTCTGTAAAATCAGCTGATTCACAATATAACTGCTTTCTATTTTAAAATATCTTAACACTTAAACAATGTTACCACACTTTGCAACATAAAATGTACAATAATTGTAAGAGAAATTTCACTGCTTCTCTACATTCACATGCGTTCATATATCAAGAGAATAAATTAAAGAGAAATTTATCCCGGGGGATTTTATAATAAATTACCAGAGAAAACTGAAACAGAATGCTAAAAGTAAAGCAATAGAAAACTCCAAAAAAGAAAAATAATACTTCATGAAAACAACTCTAAAAAATATGTAACCAGAGCACAAAAAGCAACGTCTCCAAAGGTCAATTCCTTTATCTTAGTGGTTCTTAACTGGGCTGATGTTAAACATACTGCAGTGTATAGGACAGCCCCTGACAACAAAGACTTATTCAGCCCCAAATGTCAGTTGTGACAACTTTGAGAATTCCTGCTTTATATTAAGCAGAATTTCTCCAAAATGTTTTTCTAGCTGGAGAAAATGATGCTGATATACTGTCTGGGCTCTTCACAAACTTAAAAACAAATTTTTAAACAGTATTGGTGGCATATTATTATAAAGAAATTGCATTAAAAATGAATGTACAGATTAATGAATTACTATATAGGGCATATTTACATAACCACCATCCAAGCAAGAAATAGAGCATTGTCAACCTAGACCCTCACCCTTTTCCCCCAGCACTTCTTGGGAATTGTGACTCCTTTTCTTCCCCTCATTCTCTTTACTTGGCTCATAGGTTTTCTTTGTAAATTACCATGCAATTATTCACCCCCATACACTTTAGTTTTACCTATTTTGGAACTTTATATAAATGGAATCATACAGTATGTATTCTTCTGTGTGTTTCTTCATTCATCATTTTGGTGAGTTCCATCCATGCAGGTAACAGTAATACATTCACTATCATTGCTCTGTGATATTCTGTTGTATTATCACAATTCATTAATTCTATTATATACGGGCATTTGCATTGTTTTCAGTTTGGGGCTATTCCAACTAATGTTGCTGTACACATTCTTGTATATACACTCTGATGCATACAAACTGTTCTATTGGGATTATATCTAGGAGTGGAACTACTAGGCCATAGGGTATGAGGATATTCAACATTAGTAGATAACATCAAATTATTTTCATGAGCAGTTGTAAAAACTTATGCTTCCACATTAAGTACTGGAGAGTACTAGTTGTTCCACATTTTTTCCAGCTCTTGGTATTGTCAGTCTTTTTCATTTTAGCCATTCTGATGTTATGCAGTAATACCGTGTTATGGCTTTAATATGCATTGTTTTCTGATTACTACAAGGGTTCAGTACCTTTTCATATGGTTATTGGCCATTTAGATATCTTCTTTTGTGAAGTGCCTCTTCAGTTCTCTTGCCCACTTTTTCATAGGGATGTCTGTTTCTGAATGGTTTGTTTTTCTTTATATATTCTCGGCATGAGCCCTTTGTTGTTCATTAAGATGCACATGTTTTCTGCCAATCTGTAGCTTGCTCTTACTCTCATAATCACATTTTTTAAACAAATAGAAGTTCCTAATCATAATATGGTCAGTGCAATGTATACATCTTTTTATAACCCATTTAAGATGAGCTGATTTTGATGGATTGTGTGGGACAGGAGTCTGCCTATATACCAATTTATCTATTTACTTGCACAGTCTCAATAATATTTATTGAAATAACTGTCCTATGTGAACTTCAGTGACATGGTTATCATAAATTAAGTGTCTATAATTATGTAGAGGCTTTTTTGTCCTTCAATTCTGTTTCAGTGGTGTGTCAATTTTTGAGGGAATACCACTCTGCCTTAATGACTAAAGCCTTATAGTAATCTTAGCATCTGTACAGCAAGAATTGACATCTTCCACAAGAATGTCTCAGTTCTTCTTGGCCCTTTTATTTTCATGTGTATTTTTAAAATTAGCTTTTCAATTTTTATATACATACATAAACTAACACAAATGCACATTTTAGAAACAATAGATTCCATTGTATTGAATCTATCACTTTTTAGTATTAAGTTTTCCAATCTATAAAATGATATATATCTTTCCATTTGGAAAGGTTTCATTTAATTTATCTCAACAATATTCTATAGTTTGCTGTATAGAGTTCTGAGATAACACATAGGGTAGAGCTGTCAACTCAAACTCACATGAATCAGATCTTATTTAATGGCAAACATTCCTAATAATTCCAAGGATACAAGACTCAGGCAAAGCATTCTTCCTTTGGAGAAATCCAAAACCATCAGCACAGCTCCCCAAAGATTCTTCCTCTTTTGTTTCAGGACATGGTCTGGTTCAGATTTAACATTTGATGTTACAATTGCAGCAATTCAGTCCCGTCTTCAGGCTGCACAGGTAATTCTTGTTCTTTTGCTATTTGTGGTGACTTCCTCTATTGGAGTCTTGAATTCCACAAAGTCGTCCACTGAGGGTTGGAATCCACTTTTTCCAAAATCCAGCTAATGTTGATATTTTGACCTCCTCCCATGAATTAAATATTCTTAATGGCATCTAGAATGATAAAATATTTTTAGAGGTTTTTAATTTACTTTGCTTAGGTCCATCAGAAGAATCATTATCTGTGGCAGCTATAGTTTAACAAAATGTATTCCTTAAATAATAAAACTTGAAAGTCAATATTACTGCTTGATCCACAAGCTACAGAATGGATATTATGTTAGCAGGCATACAGATAATATTCATATCTTTGTACATCTTCATTGGAGCTCTTTGTATGACTAGATGCATTGTAGATGAGCAGAAATATTTTTAAAGGAATCTTTTTTTTTTCTGAGCAGTGGGTCTCAACAGTGGGCTTAAAATATTCAGTTAACCATACTGTAAACAGATATGCCATCATTCAGCCTTTGTTTTTCTATTTCTAGAACACAGGTAGAGTAGATATAGCATAATTTTTAGGGATTTTAGGATTTTTTAAATCCCCTTTAAGTGATCTTAGGAATTTTAAAGGTATCTTTTTTTTCTGAGTGGTGGGTCTCAACAGTGGGTTTAAAATATTCAGTTAACCATACTGTAAACAGATGTGCCATCATTCAGTCTTTCTTGTTCTATTTCTAGAACACAGGCAGAGTAGATATAGCATAATTTTTATGCATCTTGGGATTTTTAAATCCCCTTTTAGGGATCTTAGAATTTTTAAATCCCCTTTAAGTTGAGCATTGGTGTCAACTTAAAATCAACAGCTACATTAACCCCTAACAAAAGAGTCAGTTTGTCCTTTGAAGCTTTGAAGCCAGGAATTAATTTCTCTCTAGCTATGAAAATACTAGATGGCATCTTCTTTCAATAGAAGGCCATTTTAGCTACATTGAAAATCTGTTTTTTAGCGTATCCACCTTCATCAATGATCTTAGCTAGATCTTCTGGATAACTTGCTGCAGCTTCTACATCAGCACATGTTGCTTCATCTTGTACTCTTACGTCATGGAGATGACTTCTTTCTTGAACCTCATGACCTACCTCTGCTAGTTTCAAGCTTTTCTTCTGTAGCTTCCTCATCTCTCTAAGGCTTCACAGAATTGAAGAGAGTTAGGGCCTTGATGTAGATTAGGTTTTGACTTAAGAGAATATTGTGGTTTGTTTGAACTTCCATCCAGAACGCTCAAACTTTCTCCATATCAGCAATAAGGCTGTTTTGCTTTCTTATTATTCATGTGTTTACTGGAGTAACACTTCTAATTTTCTTCAAGAACTTTTCCTTTGAATTCATAACTTGGCTGTTTGGTACAAAAAGTCTTGATTTTGGCCTGTTTAGCTCTCAACATGCCTTCCTCACTGAGCTTAATTATTTCTAGCTTTTGACTTAAAGGTGAGACATGTGAGTCTCCCCCTTTCACTTGAACACTTAGAGGCCATCATAGGGTTATTAATTGGTCTATTTTAATGATGTTGTGTCTCACGGAATAGGAAAGCCAGAGGAGAGGGAGAGAGATGGGAGAGTGACCAGTTGGTGGAACAGTCAGCACATACACATTTATCAATTAAGTTTGCTGTCTTACATGGGCATGGTTTATGGTGCCCCAAATAATTTCAATAGTGACTTCAAAGACCACCAGTTACAGGTCTCCATAACATATATAATAATAATGAAACAGTTCGAAATATTGTGAGAATTACCAAAATGTGATACTGAGACACAAAGTGAGCACAGGCTGTTGGAAAAATGGCACCAATAGACTTGCTCTACATGGGGTTGCCAGAAACCTTCAATTTGTGAAAAAGCACAATAAAGCAGGTGCAATAAAATGAATTATGCTTGTATTTGACTCATAATTATTTCCTGATCATTTATCTTTTTCTCTAAGCCTTTTTCTTATCATGAGCCTTTTATTTCAAAATATTCTCACTGAATATAAATTCTCACAATTGTGACTTTAAGTTGCACATAAGCTACAGATTCAGCTCAAATTTTTATTTCTTCATGAAACTTTTATAGATTGTCAGCTCCATGATCTCTTCTGTCTATACTATCCTTACTAGCCACAATAGCGGCCATATTATTCAATATTCTTCATATTTATGAGACTGCCAACACCAAACAGCAAGTATATGGTGGACATGGTTACAGCCCAAATTGTTCGACTCAGCCCAGCAGTCCTCCCAATAGAATCCTAGTGCTTCAGTGATATCCTTCACATTCATTAGATACAGGCCATCAACTGGCCCAATAGGAAGCTGATACTGACCTGAAGTTCAAGGGAAGCATGCACAGTAAGGAATGAGGAGAGAGGAATTCTTGCGTTTGTGTATAAAAATTAAGCTTTATCTTCTAAGGCACAAACAAAAAGCCTGAGAATGAAGCAACTTTTCTTCTTCCAAACCTGAGGAATGCACTTTTCCACCTGGTCTGGGAAGAAAAGGGTTTATGATTTCCTCACTAGCGAGAAGAAAAGCCAGTCACTTATCAGAATTGAAGATAATCCTTTTCATTTTGATAAGCACCTGGTCTTTAGCTGCAGAATTCTGTCCTTTACTCTCCTATTAAACAATTTTTTAAATAAAATCACATTATCCTAATATGTGGGATTGTTTGGCTCTCCACCTTAAGCTCAGTTCTGCAGCTTCCTTTTTAACAATCATGTCAGTGATTGACTGGAAAAGGAAGCAGGATACAGAAGCAGCTTATAGGCATGCTGATACAGCTCTCATAAATGGTGGAGTTATCAAGATTTAATCACAAAACATCTATAATGAGGGTTTTAGAAAGCCTATTCATAGGTATGAATCTTTCTTCACTAGACTGTCTTATCAAATGCTGCAGGAGCACTGAGGAGACTATATTTATGGCTCATTAATAAAGATTGTTTCTAAAATGCATGTATTTTACATAGTCATGAAGATGAGGGGATTTTTAAAGGAACTATATCATTGAAAACGATTGATGTGTCTGAATAGCAATGATTCCATTCTTAACTCAACTGAGATCTTATATTTGAATAATTCCTGCAAGTATATCTTCTCTGCAAATATATTTTTGATTGGTAATAAATAATACTAGATATTTAGTTTTTGGCTTACAGAATAATCTGATATGATCCTCTGTCCTTTATATATGGTCTTGATTGGCATTCCAAATATTCATCTTGAGAAATTACAAAAGAAATTGTCTGACATGCCACCTGAGGGGATAATGTGAAGAAACTGCAGACAGTGGATACAACAGCCACTCTAGCAGACAGGGAATGTGAGAAAAGTACACTTTTTCTCTGTGTTTGGGAGCAGTGACAGGAATTTCTTTTCTATTTTCTACATCCTTTATCAAAAACGGATCCAAAAACCCCTCAAAAATTTCTGTTTAACAGTTTGTAGAATGGTACTATTAAAAATTCTTTAACCAGCCAGGCGTGGTGACTTCCCCTATAATCCCAGCACTTCGGGAGGCTGAGGTAGGCAGATCACTTCACCCCAGGAGTTCAAGACCAGCTTGGGCAACATAGCAAGACCCCCATCTATTAAAAATAAAAAAAATCTTTACAAACATTTTCCAAAGCTGTGTGAATTCTGAAGAAGAATATTTCCAAGTTAAAAAAAAAATCATTGATCTTGCTATTTGACTATCAGGCTATCAGGCTATTAATAATCCCTGTTACATTTTTTTACCATTCCTGCGATTACTACTGCTGTCATACTACCTATACGACAACTGCCAGCCGTCATCATTGGGGATTCAGCATGTTACCAATGTGCTTTACATGCATTATCTCATTTAATCCTTGTAATACAGGGAGTAGGCATATTATGGCCCATTGATATGTAAGAAATCAGAGATTTAGGTAATTTAACTAACTTACGTAATGTAAGCTAGGTAAAAAATGGCAGTGCCAGGGTTTGAACTAATGCATTCTAATTCAAAACCCTTACTCACTCATATATTCTGCTTCTAATCTGCTATGGGGTTGAAAGCCAAGTGGTCAAGCTTATTAGAATCGTGTCTAAATGTGAAGTATCTAAGTGCTGCATTAGGTTTAAGAGAGTCTCCTGAAAGGAACATTTCTAATCTTTAGAGAACTGGTTTTCAGCCACTGTTGGGGAAGGCAGAATTATTAGAGCTATGAAACTATACACATTATATACATATATATATATTTTCCAATACATAGATTACTATAAATGTGTGTATTTAAAGATACCAACTGATTTAAATGTGTGAAAGAATTTGTAATCTGTTTTATTTATTGTGGAAGAAAACACAGTTTAGCAATGTGGTTAAGTACAGAGACTCTGGAGCCCAGGACTGCCTGGGTTCAAACCCTGGCTCTGTCACTTTCTAGCTGGGTGGTCTTGCTTAAGTTACCCAATCTCTCTGCCTCTCAGTTTTCTCATATGTAAGATGAATTCAACAATAGTAAAGATAAACTTATTTTATCTTCACTAACCTCTTGGAGCATTGGTGAAGTTAACATAAATTAAGATTTGTGTAACACTTAGAATACTTTGCAGTTTCCATAGTAAGCACTTTGTGGTTTCTTGGAAGCCAAATGCTAACTACAAACCATCTCTAGGAGGTCTGCAACTAATTTTTGGATTAGCTTGAAAATGGTGAGCACCACTGCTCTAGAACAGATGCACTGAGACATCTTGTTGGTTGTTTCAGAGACCCATTTGGCATCCTTCTAGATTATTACTTGTGCTTTTCATAAGTTCTCAGTGCTGGGCATATATCCTATATAAAAGTGAGATGCTATTCAACAGTGTGTTAGAAATTCAGAGGCATATAATTTGTACTTGGATGCTGAGTCAAAGTCAATAAAAATGATACCATCTCTGGAGATTAACATTTAATGTAAAGGCAACATTATAGACATAGTTTAAACACCATGGACAAAGAGAAAATTTAAGGAAATATATTTTTCTGTTTTTACTGTTTTATTTTCATGTTTGGAGAAGCAGACTATTATTCTCATTTTCTTTTGTTTCATGAAAAAAATGAAAAACCCAGCTTATATAATGTAGTTATCCCCTGCTTATACATACATATAAAAATAATTCTCTCATCAAGTGAATTTTGAACTCAGACTCTCCATTAATTGCTATTTTTCTTCTCAAATGGAAACTGGTCTATGACTTGAATGCTTTTTGATAAGTCCTTGAATTTATTTGTATTCAGAGATTCTGTTGCAGTCTGCTAAAAGCCATTTCTTGGCAGGCTTGGGTAATTGCAGATGAAAAGGCTCCAAGAATAATTTTTTCCCTACAGGAAAGTGAGAAGGGATACTGCTGACACTGGGTAGAAAGAGCCCAACCCAGGCAAATAAGAGAATAATTAAAGGCCCAAGAAACTATTTGACAATATCACATCTCATGCAAATTAGAGGAACCTAGGATTTTTTTTTTTTTAAAAACCCTCACTTCTACACACACACACACACACACACCAGTGCAAATTTGGAGCAGGAAAAAAAACTCAAGGCTGCACGTCACTCAGACATTAGCATCCCAAAGCCTGAGTACTGAGGCATCATTTTGTGCAAACTTCATTTGGGTGAATTGAGTGTCCGATGGGATTCGTTCACGGAGCCTGAACAATAAGTGGGAACTCGGGGAGGTGAGACAAAGAAAATGCTAAACACTTTCTACTTTCATTTTTTCTCACATGAAAGAACAACACACTCGTCTTTGATACAGGAAAGGAAAACAAAAAATTGTGCATTTGATGTACATTATAAAAAGATGTCTCCTTGTGTGGGTGGGGGAACACCAAAAGGGATAGTCCCAACACCACCATTGTGTCTTCTGTTATTCTTTACATTATATTTTGTGGCTATAAGGATACCATCCTCAGTGTCAAAAACAATGGTGAAATACTTCCAAACAATTTCTTCAAGACATCACCAAAAAGCTTCCTTTCTATATTCTACACAATCTCTTTTACAAAACATAAAAGGAAGGAACACTTCTCAATTCATTTTATGAAACTATCTTTACTCTGATAGCAAAACCAGATAAAAACACCAAAAAGAAGCCAGATAAAAATGAAAGAAAACCAGGGATGAATATTTTGCATGTATATGGATGTGTTGAAATCCTTGACAAAATATTAGCAAACAGAATTCAGCAATATACAAAAACAATTATATACCATGACCAAATGGGGTTGATTCCAAGGATGAAAGGCTGGTTCAACATTTGAAAAAATCAACCTATGTAATCCACTATATTAGCAGGCTAAAGAAAAAAACTCACATAATTATATAAATGGATTCAGAAAAACATTTCAACAAAATTCAACACCCATTTATGATAAAAACTCTTAGAAAAATAGAAATAAAGGAAAACTTACTCAGCTTGATAATGAGCAAATATAAAACTCCTCAGTTAACATTATACATAATGGTGCAAAACTGAATGCCTTCCTCCTAAGATCAGGAACAAAGCAAGGATGTAGCTCTTACCACTCTTATTCAACATAATGCTAGAAGTTCTAGCCAATGCAATAAGGCAAGACAAGGAAATTAAAGGCATGCAAATCAAAGGGGAAGAAATAAACTGCTTCTATTTGTAGATGATACTATCATCTATATAAAAAAATCTCAAAGAGTGTATTAAAAAAAACTCAAGAACTAGTTAGTGAATAAAGCAAGGTTGCACTATAGATCAATATACAGAATCAAATGTAATTCTATATACTAGAAATTAACACATGGACACCAAAATGTTAAAAAAGTAACATTTACAATTGTTCAAAAAATGAAATACTTTAGTGTGTATTTGGAGAAAACATGCACAGGACATTTACACTGAAAACTGGAAAGTACTGATGAAAAAAATTACAGAAGACCTATAAAGTAGGCAAACATACAATGCTGCTGGATTGAAAGACCCAACATAATAAAAATGTTGACTTTTCCTGACTTGGTTTACAGATTTAACATAGTTCCCCTCAAATTCCCTGCAAGACTTTTTATAGGTATAAACAAGATTATTTTAAAACTTATGCAAAAAACCAAAAGAGCTGGAATAGTTTAAAAAAAATGATTAAGAAGAAAGTGGGATGAATTAGTCTACCTGATTTTAAGACGTTTCTTATAGCTACAGTAATCAAAACTGCACGATATTGGCAGAAAGATAAACATAGATCAATGGATCAGAGCAAGGAATCCAGAAATAAACCTACTCAATCTTTCCAACTATTTTTTTGACAAAAGTGGTAAAGCAATTGACTGGAGGAAAGATAGCCTTATCAATAAATGGTACTTGAGCAATTAAACTTCCATAGGCAAAAAACAAAAACACACGCACACACAAAACAAACAAACAAACGAAAAACCCAACAAACCCTCAAACCTCAAAAAAACCACCTCAACTTAAGTGCATAAAAAAATTACTCAAAATTGAGCATGAAATTAACTGTAAAATATAAAACTATAAAATTTTTAGAAGAAAATATAGGAGAAAATCTTTGGAATCTAGGGCTAGTCAAATAATTAGACTTGACACCAAAAGCATGACCCATAAAAGAAAAAAATGAATAAATTATACTTTTATCAAAGTTAAAAACTCTTGCCCTGTGAGACACTGCTAAGAGTATAAGAAGGCAAGCTACAGAGAAATATTTGAAAACTTCGTATCCAACAAGGACTCACGTCTCAAATATAAGGAACTCTTTGAACTCAACCACTGAAGGAACAAACAATACAATTTGAAAACAGATGAAAGCAATGAAGAGACGCTTCACCAGAATGCATATACAGATGGCAAATAAGCACATGAAAAGATGTAGAATATCATTAGTCATCAGAGGGTTGAAACTAAAATAACAATGAGATATCAATTCACATCTATCAGGAGGGCTAACATAAAAAAAATTAAAAATCTAGTGACAACACTAAATGCTGGTGAGGATACAGAGACACTGGACCACTCATACATTGATAGTGTGGATGTCAAATGGCACAAGCACTCTGGAAGAGTTTGGCATTTCTTAACAAACGAAATCTGCAAATACCATATAACCCAACAAGTTCACTTCTGGGCATTTATCTCCAAGAAATGAAGAATTACGTTCACACAAAAACTTGTGCATGAATGTTTATAGAAGCATTACTCATAGTAGTCCCATACTGGAAACAACCTCACATGTCTTTCAGTGGGTAAATGGTTAAACAAAGTGTGGTATGTCCATATGATAGAATATTACTTAATAATAAAAAGCAGTGAATCATTGGTACACATAACAACCTCTAGAGAATTGTGTGGAGTGAAAAAAAAGTCAAACTCAAAAGGTTACATATTGTGTAATTCTGTTTATATAACAGTCTGGAAATGACAAAATTATAGATATGGAGAAGAGTTTAGTGGTTAGGGTTTAGGAGATAGTGAAAGTGGGGAGGAGGGAGTGGGTGTGGCTATGAAAAGGAAAAATGAGTCCAAAATGATGAAAATGCTCTGCACCTTGACCTTTTCAGGGTTGAAACCCTGGTTGTGCTATTGTACTCTACTTTTGCAATAAGTTACCACTGGGCAACACCAGGTCAAGAGCACATGGAATTTTTCCATATTACTGTATTACTTCTTACAATTGCATGTGAATCTACAATGATCTCAAAATAAAAGGTTTAATTTAAAAAGGTTTTCTTTTTTTTTTTTTTCTTTTTGACACAGAGTCTTGCTCTATCGCCCAGGCTAGAGTGCAGGGGCACGATCTCAGCTCACTGCAGCCTCCACCTCCAGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCTGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGAAGGCTGGTCTTGAACTCCTGACCTCAAGTAATTTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGAATGAGCCACTATGCCCAGCCAAAAAAAAAAAAAAAGTTTTCATCCTTATAATAACATAGATGTTGTTGGCAAGCCCTCTGTATGGCCCAATGATTACATAGTAAGTAGTCTACTACATTTTCTTCCCTCCAGCAAAAATAAACCCTGGGAATTTCAAGTGACTTTGAGATGTTTCTCCATTGTGTTTCCTACCCAACTATCCATTGTCTTAAATTTAAGGGGCCATGCCAGATATCATAAGATGAAATTGTCCAGGGTAGCGTTGTGATTATATTTGGACATAACTTTACCTAACACCGAGGAAAAAGCAACCAGTCATTTTATTTAGGAATCCTTTACCTCATTTTTTTTGGCTTTTTATTTTCAATGTTGTATTGTGATATAATTATCAGATATTCTGAAGAAATTATAAGTAATAATGATATAATATTTAAACTTAAGAAAAATTATTTGAGCCAGAAAAGAGGTTGTGTTTTTAGAGAAAAGGAGTACAGTGGTTGTTTTGCTGATAGTTGTGGTTTTGGAAAGATTGTGGGTTGTCCAGATGACAGTGCTAGAACAGTGTTCTTAAGTCGAGTGTGAGAACTGGAAATTCATTCTGGGTCATTCAAAGTCACTGGAGAATTGTTATCAGACATTTTAAAATTGCTTCCAGACTAATCACCATTGCCATCATTTTTATTATCACATACTTAGGGAAAATTTCACAATCTGCGTGGCTTTCACAGCAGTGCAAGAAATATTTACAAGGCCAAGTGATCCTATTCACATGAGAAATTGTTAAATGAATTGTCTTCATTGATGAAGTATCTGTTTAATCCATTAAAGGTACATAATCATAAATAGAAGATCATGTTAAAAGTGCCAGCAAGGCACCTCTACTACAACACAGGTTTTTTTTTTGTTAAAGCCTATAAGAAAGGTTCATGGCCAAGAGACTTTCATAGTTTGTATATAGAAAAGTATTTTTAAAGTTATAATAATTAACATGGTAATTAAATTTAAATTAATGAAAGGCAGATCAATTTCTAGGGGTAAGTAAAGCAACATCTTGTTGGTAGTTAAAGGAAATATATGATACACATATCTTATACAATGATGGTGAAAAGCAACATAAAGATCTGAATAACACTGAATATAGCCACGATTCTGCTCTGGTTTATGAAAGGATGTTAACCTTGAGACTTTTAGAATTGGAAAAAATAAAAAATACCCGGAAGAGCAGAGGACAAATAATAGGAATAAAAGTCTTTTTCTTGAGTTTCTTTAGTTTGTAAGATGTTCTTTATCATTTCTCACCTGGGTATTAAGTCTTATGTCAAGCTGAAGAGCTACTAGAAAGAAGAAAACGAAAAAAAAAAAACCAGCTTTTCAAAAGAGCAAGTTTATTGTGTACATCTGAACACTATTTTGTAGGTGTCAAATTACAACGACGATAGCATATGAAAGTAAACCTTCAGAAAATATGAACTTTTCCCAATCCTCAGAATTGAAGGAAAATTGATATGCTTTCACCTTGAGTACTGAAAACAAATTCCCATTCCCTCTTTTTCTGTCTCCCTCGCTCTCACGCACACACAGGTGCATACACACCACTGTGGATAATTCCTTCTCTTTTTAGCTTGCATTGTATCCTGTAGGCTACTGTTTCCTACTTGCTCATGATCAGAACACAGCTATAATTTTCACTTTACATTTTGCATTTACAGAGCATTTAATATATTTTAAAGCCTTCATAAGTGTATTTCCTTTAATGCCCATAATACATATCTTATAGGGCTGAAAATGTTGACCTAGTTCACAGTCAACAAAAGAGAAATAACTTGTGCCTCCCACAAGATGCAGGGTCCTCCAACAGATCATATAAGTGAAAGGAAAATCTGTACTTTGGGATTCATGTTTATGAGATGATTCTCAGATTTCTATTCGAAACCTCCTTCCTGGGCTCCCGGAGAGGCCCATCCTTAGAAATGTGTTCCATGTGTATGTTTCATTTGCACTTGACTCGTGTACCTAAACCTCAATGATTCTCTCTTCACCTCTGGTTTCCATGCTGTTTAATTTGTGGCACCTTTCTCCCTAGAATCCAGATAGAAACCTCAGATTCTTCTTGGTTCTTACTCTTCGTTCTTTTTCACATTTTATCCAATCAGTTGCCAAATCCTGCAGATGACATGTTTTCTTTACAAAACACCTTGACTTGATTTCCTCATTATCATTCCCACCACTCCCTCCTACCATCTAGGTGCTTGTTGCCTCTCCCAAAGGTTGCAGTAAGCAGTATCTTCAACATCTTTTCTCCTATTTCAGGACATCCACATGCTGCTGAACACTCTCCTAATCAATACCTTCAGCATCTCTCCATCAGTGACAGAGTTAAGCACATGGTCCTCATCCTCCTGATCAATACTCTAGCTTATCTTTTCTTCAGGCTGAACTATACGTACCCTAGCCATCTGTCAGACTGCAATCCTGGCTTTCCTAAAAACATACTCTCCTGTGTCTTTCTTGTCCTCTTTGCCCCTGCTCTGTGTGTGAATTAACCTGCCGAACTCCACTGCCCAACTTCTCCTGTGGAAATCGATTCCAGCCTCAGAAACCAGTTTTAAAGGCCAGGCCCTCCATGAAACCTCTGCCTATCCTCCACTGGACCCCTGCCACACTCTCTCAATTCCTCTCCAATTGTAAATTCCATCTTATTACACTTATTTGTGTGGATGTCTTCTCCTTCATTCTAGATTGCAAGCTTCTTATAAATTTGCCATTATATTTTCCCAGGCATCCAGGACTGAGAGTTCTATATAATGGAGATTGCATACTGATGTAATTAAAGTAAGTTGAATTAAAATAGAGGTAGCATTGAACATTTTATTTTTATTTTACTGAATGGAGTCACTTTTCTCTTTGCTTCCAAAAAGCGCTTCAGAAAGGGCTGCTTCACTGGTACTAATACACATCTTTTAGTTTCCACAGAAGATTATTATGTTTGAGTATATATAGAGAGTTGGGTGAAGCTGGGCTATCAGTTATGTCAACAAAGGGCAGGAAAACATTACAAATGTACATACCAGTTTCTATCATCAGCAGATATTCATTTGTTAACACTATTAATCCAAACATACTATGTAATGTAAACCATTAATTAGTTTTGAACTAGAACCAAATAGAAATAAAAGTAAAGCAATCATCAAATAGAAAATCTACAAATAGAAATAGAATTAAAGCAATCATCAAGGTATTTTTTCTGTTACTATGGCTAAAAGTTTAGTTTTTACCTATGGTAACAATTTGCTACTTTTAATGCTAGAGAGCAATTTTACAATAGTTTACATACCATTCATTTATTCATTCTTCTTATTATTTCAGATTTCTATATAATATTGGGCAGGGGAGGAGTTGGGCAGTAGAGTTTGGCAGGTAAACTCACCAACAGAGCAGGAGCAGAGAGGCAAGAAAGACACTTCAGAGTATATTAACTCTGTCATTGATGGAAATATTTATTGGGTAACTGGCTATAGGAGATGAAAAATGATCTCTATTTTTGCTTTCAAGTCTACTATAGCTTCATGGAAAGACATACTTCAAGGCCACAATAAGACATGTTAAATTCTCTGTGGATGCATAAGTACTCAAGGAACTGTGGTTTTATGGGAGAAGGAACATGTATGTTTCCCCAGGAAAGACAGAAAACCTTTCAGAAATGCTGAAACATTTGAGTGAAGAACTAAAAAATTTCTAGTCTACCACATGGGCAAGGGAGGTAACAGAATTCTGAGGAGAGGGAATGCATTTGAAAAGGCATAGGGTGGTGAGGTGCCATGTATACTTGGAAGTGATGGCCCTACATATCTGTTACCTGAGCGAGGAAGAAAGGCAGGACATGAATGTCAGCAGATAAACTGAGCCAGCTCGCAGAAAGCCTAGTACTCTCTGCTAAGACCTTTGGGTTTTATTCAGGCCTCAAGGTATGGAAAGATTCCAGCAAGAGGATGCTTTCAATTTTATTGTAGAATCAGCACTGTATGATATTCGGGCAACAGGGCAAAAAGATGTGAATGAATGAGCTCACATCTTAGCAGTACATCAATGAACAGTTCATTACCATTACTGGTGGGTCAGTAGCATCAACAGATAACTCTTTACTCAGGATATAGAAAAGGATTTCCAGCAAAATCAAAGCTTTAAGGCAGAATGGAATAAGTTATATCAAAGTGACATTCAGTCATTTTTAAAAGTCTGAGAAGATTCAAGGATTTATCACAGCTGGACTATGTAGAATTCATCCAGATGGGTAAATATCTGTCTGTCCCAGTTGAGGTCAGAGGAGGAAATGCCACAACCACGGGTTTGCAACATTACACAGACCTCAGTCTGGCAGTCCCTTTGGTCTAGCCTAAATTTATTTTCTTAAAGTTTAAGCTCATTTCCTCCTTTCCATCCTTGGGGAAAGTAAAGAACAGATGGTCATAAACCACCAGATAGTGACCCTTTATAGACTGGAGAAACATATTAAATCATCTCTCAGCCATCACTTTCCTGGGCAGAACAATAGAAACTCCCTATCAGTTCTAGTCTTAGATTTGTTGTTCTAAATCTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCGACTGGACAGCTCTTTCTCACTTTGCTTAGATGCTCATCCACAAACAGAATGCGAGCCTTCAATAAATATATAATTATTTCTAAGTGCATTGGAAGCATTTCTTCTGGGGTCACTGATCCTGTAAATATAGGTGAGTGTCATATTACATTTAAAAAAACAGCAGCAGCAGCATGTTACTGACTGCCATCTTGAGATGACTAAGAATTCTACATCCTTTTAGAATTCGTGTTGGACCAATCTTTCCATCTCATGACTGTCAATTCTAAACTCTTCTTCTGTGTAAATTGCAGTATTTTGCATCACTTCTTTGAATGCCTCTGGCCCTTGCATGTGAACCTTATTTTTCTCCATTTCTGGCCATTTTTCTACTTCGTTGACATTGCATGACAATTGTTATTTTACCTTATATTACAGCCAGAAGTAATTCAGATTTTCTGCAGCTCTGCACATCTAAAGATTTTACAACTCTTTGCCCTTTTGAAAGTATCTTGGATTTCTCTCTATATTAGGCTTCTCTGGAGCAGGCAGAGACATCTGGGAAAGGCTATCCCTGCCCCATCCAACATACTCACTTCCAAGCTCCGCAAAAGAAGCAGGGATGATTGAATAATGGCATTTATTGAACACTTGCTTTGGGCTGGACATTGGGATGGGCAGAGCCATAACCTGAACAATCTCATGGCTGCTCTTCGGGAACTCACAGTACTGGGCTGGAGGGACTTTACAGGGACTGGACACAGCTGGATATCTCTGCAATTTGAAAATTAGATGATTATGTAAGATGGGGTATTATTCTCAAAGTTAATTGGGGAGCAATAAAATGTTAGATTTTTACCTATATTACCTCCCAATAGGTTTAAGTGCATGCCTCCTTACTGGGTTTGTTAAGAACCATAATTTAAAAATAATTTAAACTTTCTAAGTATTCTCTTCCCATAAAATCAGTGCTTAATAACGTATTTTAACTAGAGGCTAGTTCTGGGTGGAAATAGTTGAAATATGCTAAGAAATCTGAGAGCCCCTATTTGACTATTAACTAAGTGTTGAAAAAAAAACCTAAACAAAAACAAAATGCATCCTTTTCTTTTAGTCCCTCATCCCTTAAAATCTCTCAGGATCCTTGTAGGTTCAAACATCTGAAAAGATGATTGGTCTGTGGGAAGAGAGCATTCACCCTGGTCTTTCATTCACATGACCATCATTTCCAAGTGGACAGTGAGATCTACTTTTCCTTTTCCTGAGAGCTTAGTATGAAATAGGCAGGCACTGTTCAACAAACTTGCACCTATAGCCAAAATTTGTGTCCAACAGAAACCCATTTACATGAGAGGCTGAGAAGTTTCTTAGCCAAGAACTCCTTCTAAGGAAAGATGAGTCGGACACCAGAGTTTTGATCTGATAATCAAGTATCGGGGCTGAAGGGAAGTGATAATTCTAACTACAGAGGAGTTGTCTTTGACCTGGAGCTGTTTCTAGTCTTATCTGATGAGGCCGTGTCTGGATTCTAGGAAAGGAGGGAAGAGTAAATAAAATTCTAAAGCGTTAAGTCATTAGAAAAATCTCCAAAAATTTAAGTGTAAGCAGACTTGAGTATTCTCCTAACAAAGCCTAACAGGAAGGGGAAAAAGACAACAAAACTATTACTGCAATCTCAATTAGACGAGAAGTTAGTGGGCCCCGGAGAAACTGGGTAATCCATAATCATGTCATTGACCTGTACTACAGAATCTGAGGCAGGTATGATTAACCTCATTTTATGGATGAGGTTTAGGAAGTGACCCTTAGCATGTATGCCACCCCAGGGGGACACCTTTCTTTGTATTCTATGAGAATTGTACCCCCTACATCACAACTGGGAGTGCTAGACTTGGCATCTAGGTCTGGACACTTCTGAGTTTATCCTGTTAAGCAGCCACCTGGATTTAAGCCACCCCATTCTTCAGGAGCGAACAGACCCAGAGAGCTGACCAGGACTTCACAATCGATGGCTCTGTAGGATATTTGTCAAGTTGATTCTACCAAGGAAGTTCTCTATTTCCTGTGGTCCTGGTGAGATTTTTATCCTCCCCTAGGTGCTGGGCTTTTGTTCCAGGACATCTCAGCCTTGAGCTTTGTTTGCTTGTTTACTTCCTCTCCTGCATCCTTGTTGAGGTTCCCAGCCACATTTTTCCCCTCTGCTTATTTATTCCAGAGCAACTGCCTGTGTCATTTCCTTTATCTCTGGCATGTCCCTTGGTTAGTGCTGGTGTTTCTTTTCTTTTCTTTTTTTCCCCATTGCCCAGGGCACTGTGAACAGTTGGCTGTGGTGTAGGATTTACAGACCTGTGCTATGAGATGTACAGACCTGTGCTCTGTACAGACCCAGGAAACGTTGGAGTACAGTGGGCTGACAACAGGGGGGCGCCAGCTGGGGAAGGCAACAGGCCTTAGTTCTTGAACAAAAATAGGCCAGAGATTCTGCTACAACTGGCCAAGATTCCGCCCATCTCAATGAAAGGAAACAGACATTCCCACATGCCCACGAGCTTTGAATGTGTATTTGGCTCCCTCAATAACTCCAGTGCACATTCCCACCCGGTCACTTTTCGCCCACGTTGTTATTGCTGCTGCTGGTTTTTTTTTTTCTTTTTAATAAAGGTCACATTTTATTAGAGATAAGAATAACTTAACAATGAAACTCTTGGTTCATCTGTTCTTCCAGTGCTTTTGTGTTCAGCTTAACATCTTCTAAACAGACATTTAAAAATGATTATTTTCTTCTAGTAAAAATTATAACATGTTCATTTTAGAAATTTTGAAAAAAAGCCATAGAAAAGTATAATAAAAATTCTAATTCCACCATCAAACATAATAACCACCATTTGTATTTATATTTACATATGTCCAGTATTTTTTTAAAAGCACAGGCACATATAGTTGTAAAAAATGGAAGGAATAGTGTTCACCTCATTTTGTTTCAGTAGTTTACTTGTTTTAGCAGCTTAGAATTTAGGTATTTATACAAAAAAATTTTCTAGATATTCATTTTTACATAGTTGAAAGAAAATATATTTTTAATTGAAGAATAATTTTCAGACCATACAATGTACCCACTTTAAGTTTTCAAATTATATGCCCATGTAACCACCATCAGGACCAAAATAAAAAGCATTCCCATCACTTCGAAAAGTTGCCTTGTGTCCAGTTCTAATGTCTACTTTGTTTCAGGCAACCACTGTTCTTTTTTCCACTATAGATTGGATTTGTCATTTTTAGAGTTTTACATAAGTGGAGTCACACCATGTATACTCTTTTGTGTCTAGCATCTTTCATTCAGCATAAATTTTCACACACTTATAACCATATACAACCACACTTGCATATATTTTTTAATTTGCTTTTATTTTACAAATATATTATGAACATTTTCCATATCATTAATTAGTCTCTTAAAATTAAATTTTCATTGACTAATTGTAACTTGTTTTAGGGATATACCACAATTTATCTCATAAATAAGATCTTATTGTTAATTGTTGGTGTTGTCTCAATGGTTTGCTTTCATAATCAAGAATAATTATTCTGGACTACACATGTTTGTGTGCATTACCTAATTTCTTTGGGATAAATTTCTATTTAAAAAAAGTTAAAAGTCTCACAAATTTTAATATGTACTGTGCCTATTTAATCTTCCACAAACATTATATACAAATTTATGAGGAACAATAGCATTTCAAAGGTGAAAGGGAACCTGGAGAAAAATATGGTTCAGTGGTCCTTAACCAGTGGGGTGGACATGCCTATGGAGCTCTTTTGAAATTCACCTGCAGTTATTCTAACTTGGTATTTATGAAGCTCAAGTAGCTGCTCTTTTTGTTTTTAGTTCTGCAGATGATTCTGTTGCACACTACACTGTAAGAATCACCTCAGTTTCACAGATGAAGAAGCTGAGCCACGAAAGGCTAATTAACACCTCCTGATTCCTTATACTCTTGTCACTTTGCCAGGGAGAGCCTTTGTCTACATTGATTACCCATCATCTGGAAAATGACAATAATGACCACCACCACTCCCCTCAGAAATCACAACTAACCATCTAGGTCCTCCGTTGGTGGACCTGTAAGCTAGAACAGCACTTTAAGTGATGGAGTTAGGACCACTTCAGAAAAGTCTTCATGTGAAAGGGACCCCAGACAATTGAAGAGAGGCCTAATTCAGAAATCTACTTAGAAGGTCCTCCCAAAAACTGAAGCAGACCTTTGTTGTTGTTGTTTAACCAGGCCAGATCTTAGGGGTAAACAATAGATTTACAGTGACAATAAACAGACATGCAAACACACACACACACACACACACACACACACACACACACACACAGAAGTTCCTTGACTTTGTCCCCACTCACTCTATAGCCACTCCAGCCTATTCTCAACCCCCAACTCTATCTCTTCAAATTCCTCTCAGAGGAGACTGAGAAGGAAAGAACTGTTTCTCCTGAGTGAAGGAGGGCATCCTTTACCTACCCTATTGGGTCTGTTGTTTCTTTTTCTCTTCTGTGGTCCACCTCCCAGAAGTGATGCTGGCTGTTTCTGCCATCTCCCACCATGGCTGTGGAGAAGCTACTGAAGGAAAATATCTTCTACAGCTTCTTCTCCTTCCAGACCCAGACTGCCACAGCTTGCAGTTCAGTCTATTACATTCATTTCTTAACTTCTCCAGGTTCCCACGGTCACCCTGGGGTGGGGCAAATGCTTTCATATGATTACCATTACAGGGGCTGCAAAGCAATGCTCCATTGAGCTGTCAATGTCTGACGGAAGCTTTAGTGAGTCAATTCTTCAAGATTTTTTCCACTCTTGATTGCAGTCCCTAATCTTGTGACTCAGACGTGAGTCCAGAGAGACATCTTGTTAATCTGTATTCTTTTCCTTTAGGATAAGTTCTTTCTCAGGAGTGTTGATGTAGATAATTCCCCATGGAAACAGACAGTTGGTCCACCCTTCTCAAGAGTTCCCAGGTATGCCTACCTCCTGGAGAGAACCCAGTGTGACTATCCAGATAGGATTCCTATTTAAGCCTACCTGGGCATCCTAAATATATTATTCAGAACACCATTAATTCCCCAAATCACGGTGTTTCACAGGGCAAGGAATCAAGATTCAGATGCAAATTATTACAAAGCCAAAGAAAAATAACTCTGGTGAGGGCCTTTAAGCTTTAGCAAATAAGAATTTATAGAAAGAAAAGTTCAAGTCAAATCATACAGGGCTCCTAAAGCACTTTTTAACACCTATAATGCAGTAATTTTTTTCACACACAAATCCCCAGAAGTTAGTTTAAAAGGAAATATCTTTATAAATTATGAAAGTAGGTTTGGGGGAGGCAACTTTCCCAACTCACAAATTCTTGTGCGCAAAAATGTTGCTCTCTCTGTTTTTCTAAAATTGGACTTAATTTCTACCTTGAATTCTATTTCTGCAGACTTCTCTAGGGTGATACACTACTCAGTGTTTTCTCAGTCATTTAAAATTTAAACTCAGCCAGATTAAATAACTCCTCCCTATCCCAGCAGCAGACTCAAACTAAAACATTATAGCATTGGTAGGAAGAGGAAGTAACCAGCTTCTGTAATATTTTATTCCAAATCCTTATAACTCCCACTTAGATCAAAGCTTTTGAACTTACAATTAAGAATATACAGTTTTGGAGTTTGGAGTATCCTCGCCACTCCACCATGGGACAAAGTCATCCTTATGTCTCTTAGCTAAGTGCAGAGACTGTTGTAGGATTAAAGCAAACAGAGGATACATTTCATGTTTTTTGTGGTATTTCTGTCACGTATCACCCCACTAGATAGGCCAGATCAAGGCCATATGAAGGCAAAATGAGGAAGAGTAAGCAAGGCTATAAGCATTGGCCATGGCCTTTCCTGTAGCCACTCGTCCTGTGACCCCTTGGGGAAAAGATTGAGGTTTCTGCTGGCTCTCCCAGAGGTTCATATGGGTGGGAGACTCTGTGTTCTGCTGTCACTGGCTTCTTTCAGGAGCGGAGGCCTGCTTTGTCTAGTACACTTTCTCCCCACTACACTTTCTCCTCCACAACTACACTACACTTTCTCCTCCACAACTCTCCCTGCTTCTCTCATTGGCCACATCATGTTCCCTCATTATCTCTAACCTCAGTCCAACTCTTTGCTTCCCCTCCTTCTGCAACAAGATTCCCATATATCCAATTCTGTATTTTCTAAATGTTATTATTATTTAATAGGTTTTAATTCTATAACCCTCCTTCTGTCTGACTTTTGAGTATATTTCCATGTTTCCCACATTATTTCTTCCGTGTGTGGTCTCTCTGAGAAAGAATGATATTGGGATGCATCCTGCAGTTGGCAGTCGATATATCTCTCTCTTCCATTAGATGATGAGTTCCTTAAAGGTAGGGACCATATATGACTCATCTCAGCACTCTCTACAGAGCTGAACACATAGTAGGTGTTCAATACACGTTTAGTGAATACTTAATGAATGCATCCTGTCTGCTAATAAAGAACTCCAAACATCCTCTGAAAACAATCACCTGGGCCGGGCACGGTGGCTCAGGCTCATGCCTCTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAAGATCACGAGGTCAGGAATTTGAAATCAGCCTGGCCAATATGGTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGGTGGGGCAAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAGAAACAACAACAACAACAACAACAAAAACCCAGTCATCTGCTTGTAGTGCATATACTCAAGGTGAAAACCACAGGCAATTTGCAGTCATCTAAATAATTTATCATTAATTCCTGATTTGCTAGTACAAGAATATATTGTTTATTTTTTTTTCCTAAGCAATGATTTAAAGCCTGTAGATCAAGAGACTTTGGAGTCCTACACTAACAGTCAGCTTCCTTGCTCGAGTGTGTGAAAGGCTACTGATTTCCTAATATCACAACAGAGCCTCAACAATAATACTGTTTCCTAAGAGCCTCAACAACAATACTATTTCCTAAGCTACACTCCAGTTTTTTCCCTCTATTTTCTGGGATTGAACTACATAACAGGTATTATGAATTAAATTCACTGCTTGCTGTGCACCTATTACCATATACACAGAAGTCAAAATACAGAAAATAGTAGCATATGACAGTCTCTCAGTCCTTTACCCAATGTTTACAATGTGATTTGATTGAAAGAATTCTAAGCACTTTGTGGGTTTATAGATCCCTTTAAAATTCTTTGAGTTATGCATTAACCTTGACTTAAAGCTGAATACACTAACATTTGTTTTCTGAGCAATTTATCCAGTGTTGGATATGGTAGGTAGCACAGAAAGAAACAGTATCTAAATTCTTTTATTTGCAACCTATAACATTCTGTTTGTCTGATTATGTTGTGTTTTGAAAGGCACTTGTACTGATAAAGCTTGTAGTAGTACTTACCAAAATGAATTAAAAATAGGCTTAAGCCAAAGTTCCAAATACAGTTTATTTTAGAAGACAGAAGGACAACTAGACTCTCACCATCTCCAAAATTATAAAAAAAAACTATGAGTTATTGCAAATACTTAGAAGTCATGTTTTTCACTGTGTTTTGCTTTTCACATTTTAATATTCACTGAAACACTACTAGTTCACTTATTCTTACTCCTTGAAATAACAAAGAGCTGTGACTCAGTGCCAAACCGAAACTAACGTCAACATTAACTGATGCAGTCTTGTTAAGTAAGCTTAGCAAAATATCTGTATTCCAAATGTTAATAAATACCAACTGGCCTTTACTAGGGTAAAGTTAGAGATAATAATGTTACATATTAATGACTTTCTTCCACTAATGAATAGAAGCTATTCTCACTAACTAAATAGCATCACTTGGAACTGGAATTTTAGTTGAATGTTTAATAATTTTGAGATTAAGTCAAGAAAACGAACAGAAACAATTGATATTTGTGGGGCCATTGATAATTCTGAAGTTTTCCCAATAGTCAGCCCTCAAAAATGCAGTCTCATAATTCACAATATCTGACTTGACTGTCAGGACTTGTCTAATTTGGCCATGCCAGCTGGCAAGGATATTAGCCTCTTCTCCCGGAACATCACAAGCCACTTGGATGTAGTAGAATTCAGTGGTTTGAAGCCCCGGCTTTAATTCTAGCTCATCATTTTATTATCTATGTGGTCCTCAGCAAGTTGCTTAATTTCTCTGAGCATCATTTTTCTAACTTGTAAAATGGGGTTCAGAATATTTGTCCTTATATAAGAATTAATATAAATGAAGTGCTTAGTGTGGAAATAATTACTGCTCAATAAATAATATCTAGTAAGCAGATTTTTATTGAGGATAAATACTCAGGATGTGATTCTCATTCTGTATTATTTAGAGTCAAATGTGACAATGTTTGGTGTCAGCATGAAAAACCAAGAGTAATGTAAATATTCGGTGAATGATTTGACAATAGTCATGGTTGAGAAGACAAGATTAGTAGCAGAAGAGGGACAACAGACGTGGAAAGCTATAAAGAAAAAGTGTTTTTTTTTATATCTAAGAAGATTTTAATCTAGAAATCTTTATGAGGGGACAATCTTATTGTGCCAGAAGAACAAGTATTTATTGGGAATGTTTATATGCAAACCCAGATGCCATAAGAGACATAGTGAAATTTATTCAGTAAGTATTTATTGTGTGTCTACTATGTCTGGGACTGTTCTACATACTGAAGTAGGAGCAGTGAATAACCAAGTCAAATTCTCAGCCCCTGTGGAGTTTACATTCTGGTGTAGGAAATACAAAGATAGTATTCCTTTTTTCAAGGCATTTACTATTTCTGTAAGGAGACATGAGCCTTTGCATTAAAAGAGTATAAAATAACAATAATAACAATAATTGCAACAAATGACACGAAAATATCCCTAGGAGACTGAGTGGAGTAGTGGAAGGAATTCAGGTTTCAGCAACCAAGAAATCTGAGCTCTAATCTAAGTCCTGACGGCGCCTTTGGACCTTGGGACAGTATAGCATTTTATTCAAGTACCATACTCTCTTCTGTAAAATGAGCACAATAATAGTTACTTTATAAAGCTGTTCTAATGACTAAATGTGATTACATGTGTAAATCCCTTTATAGAGTAGCACAGATACATGAATATCCTTACTGAGAAGGACAGTTGATTGATGCCTCAAAAGACGGCAGGATTTGGCTAGACAGAGAAGAGAAAGAGCATTCTAGGCCAAGAAAAGAGCTTGATGAAGGACACAAATTTGGAGTTGCATACAGAGTATTTGGAAGAAAGTGAGTGGGATAATTTGGCTACAGTAGAGAGTTCACATAGATAAGTAGGTAGAGAAACAACTCAAATAATAGGTGGTTCTTAGATGACTCACAAAGGAATTTCTGAGAGTTAGAATAGCTCTCATGCATATGTAGACACTGAAACACAGTGTAATTAAGTGAATTACCCAAGGTTATATCATTAACAGTGAAAGTAGAATCCCAATATCCATCTGGCTCTTTGTCTCCTTGATGGCCTGGCCAGTGGTTAAGACCATGTATTATCAATCTCCTTGTCAATTCATATTTGAACACTCATAGTCTGTTAGGCAGTTTTTATAATATACAGCAAATATTCTAACCAGCCCTCTAGTTTAAGTATTGCATTTATGGCAAGAAAAAGCAATTCTGAAACAACCAAGGGGAATGAAAAACAAGCGGCTATTTCTCAAAAATGAGATGGTGCTTTGCAAAAATGAACTAACTTTATGATGCCATCTGGAAAATGCTTTTGTATTCCCGATACAGTGCACTGAGCATAACTTAAAGTTGACTAACTAGCTCTGAAATGCTCTCTTCTGTTTCCTCACATATGGATGTAGCCTACAGGAATAAGCGTTATTAGTCCTTGGACAGGACATCTGGTGTGACTTCTCAGCAATAAGGTGTACAATTCTTGGGTGAATTTCAACAGAGCACATCAGCCTAACTTTGGAAACTTTTCAGGGTTGAGCCAGTCCATGGTGATTGACCTTTTTCAGAAAGAAACTAGGCTTCCAAACCAAACTCTAATCATGGAGATTCTGTCTTCCTTCTATCCCTCCTTTCCTCCTTCTCTTCCTTCCTTCTAACATTTAAAGTCTTAATTCTGACATTACACACAGTGTAATGCACAGTGGTATACTTAGACAGAATTAAGACTTTCAAATGAAATTGAACCCTAAGATGTTATATCATAGTCAGACCTCTTGGCGCTTAGGGTGGCAGATGTTCCTCACAGTTTCTTCCAAAGTAGCAACAGTCTTTTTGCATAATTTATTGTAATTGGATATTGGAATTATGAACAGAGAAATTCTTCTCTTCTTTAAAAATTAGTAATAGAACCTAATTGTAACACCAGTAGCTTTAGAATCTCTTAAAGGAAAAAACCTTCATTAATTTGCTAAGAGATTAAGCTGAAGCTAACTTTGCTTTATAAAAAAGTTGCCAATAAAATAGCCTAATACTTGCATAGAGGAACATTTAATTTACTGAAAAGAACAAATTGCCTTCAAACAATTTAAAACACCAATTAATGGATAAACAACCAATATGTTAAATACAAATCATTCTTCTCTATTTATTGAAGTAGCTTCCCAACTCCTTTGCTTGACAACACTTAATTAGCCTAACTTGAGTTGCTTTATTTAATTGAAATTAATAGAACTAGGTTTCCTTTAAAAATATTACTTTGTTAAGACTGATTCCCTCATTTAGTCTAAATAGTGATTATTAATAAAATCTGCTTTTAAAAATATTTTTGACATTTACAATAATAATCAACATGTTATATATTTACATGAGGACTGATTATTTGGTTGTTAGTTATGTGGACATTTTTGCCTCAGTTTAACTCTGACTACCCTTTTAGGGGGTGGAAAAGTTTCCTTAGCCACTCTACAGACAAGACAGAAAGTAAATCTAGGGACTTTGGCTAACAGTCAGTATCTCTTATAAAAATATTTCCTTGGAGAGAATGAAGGTTGAAATGCATATCTGAAATGATATATTGGTTTTCTATGCTGTGATACTATGGCCGGCAAAAATGATGGCTTGGTCATAAGTCAATTTATTCTTATTGTAAAGGGTCTAAATACAGGGAAAGTAGAAATACTACATCCTTTGGGATCAAACAAAGTTGTTTCAACCCTAGCTCTACCATGCGCTATACCTGAAAATAAACTTCTCCAAGCCCCATCTGAGTATAAGATTCAGATAATAATAGCTATTTAGCAACTGCTAGATCACATTTATTGGTGTGCTCACTACGTGCCAGAGACTGTTCTGGGGACTTTATGTATGTTAGTTCATTTAATCCAACCCTCAAGCTTATGAGGTAGATATTTATAACCCCATTTTATAGATGAGGAAACTGAGTCACAGGGAGGTTAATGAACGTGCTCACAGTCATACACTAGCAAGTGGGGATGCTTGGGTTCTAGCAGAGACAGCCCAATGCCAGACTTCACTTTCTAAAGAGTTCTGGAATTTGAAGTGAAGATTAAAGTGGTTAACCTGTATAGAAGGCTGGCGTATGACCTCACACAGGGTAAAGTCTTATTAAGTGGATTTCTCTTAAAATTTCTGGCTACTTCTCAGCCTCCTTTCTGGCTCCTTTTCCTATTCTAGGCTTGAAGATATTGGACTTCTTCAGGGAGTCTCTCCTGGCGCCTTCCCGTCTCTATCCACACTCTCCTCTGTGACCTCCTCCACTACCAAGCCTGTAAATACCATTGCTATGCTGATGGCTCCCAGTTCTCCATCTCCAACCCTAGCGCTTCAGATTCATACTCTCTATAGCTTACCTGTCATTTACATTATATCTAACAGGCAACTCAAACTTTCACAGCCCTGAACATCATGTTCAACTTTTCTCCTTCAAATCTGCTTTTCCCTTCAGTCTTCCTCATACTCAGAATATGGCACCACCATCAGCTCTTTTGCTCATATCAAATCGAAGACTCATTCTCCCACATCAAATTCTTCTGCACGTCCTGCAGATTCTACCTCTACTTTTCTCCATTTGCACTTACATAGCCCACTCCAAACCACGACTCCTCTTGTTTAACTACTCTGAGAGCCTCCTAACAAGTCTCCCAGCTGCCTCTCTGGCCTTCCACATAAATCCACTATCTGCCCAGAAGCACTGTGTTCATTTTTCAAATATAACTCAGATCAGGTTACTCCTCTCCTTAAAACCCACAGATATTCTCCCACTGTATTTAAATTAAACTCAAACTACTTATTATGGTTCACAAAGCCACGTAAGATCTGGCTTCGCCAACGTTGCTAGCTTCATTCCAATCAATTCTTTTCTGCCCATTATCTCCAGCCACACTGAGCATCTGCCTGGGTCTCAGATATTCAGGCTTATTTCTGGTTTTGGGCCTTTGCCCAGCTTTTCCCCCTTCTGGAAACATGTTCTGTCTGATCATACAGTGGTTGGCTCTTTTATCTCTGTTTCCAATTCAAATGTCACCTCCACAGAGGCTTCCCAATGGCCCAATTTAAACTAGTTCTATCATTTCACTCCTTTAAATTCTCTACACCGAGCTGTTTATAACCTGATACTGGTTTTTATTGTCTGCCCGCTATTTCTGACAGCAGCAACAACACATACACATGCATGTATGCACACATGAATGCCTAAAAAAGGAAAATTCCATGATAATGAGAATATTGTCTCTTTTTTGTTGTTGTTCTTGCTCTGACTCCAACACTTAGTTTGCAGTGGCCAATGAAAGATATTCATTGAATTAATGATTATATTAAATTGAAGTGGCTGTTATTAATGGTCCTTCTTAAAGCCAAGGATCAGTTTGTATCTTTTACAGCTCTTACCATATTTTATGATAGGACTAGGTTTGGCCCAGTTAACTACATCAGTTTTGGGAAGACAGAAGGGTGCAAAAGGAGAAACAATCTATTTTCAGAAGCTGAGCAGCCATCTAGATTGCTACACAGAATTCAGCATCTGGTGAGAACAGCCCTAAAATGCAAGTGATACGAGGTAAGCAATTAGCATCTGTATTCCAACTTGAAGCAACAGTAGTCCTCAAACCAGTGACAAGAACTTAGTGATGGAAAATTCACATAGGAGACATTTAGAAGTGCATGTAGGGAGACATACATGATAGTCTTTGAGCAGAAACCCAGATGGCTGACTGGAGTTCAGAAGTCAGGTTTCAAAGCCCAGGCCGGAAATAGGAATAACAGACACTAAGGGTAGAGCCTCATTTCTACAAGAAATGGGAATTAAATTTGCTGACAAACTTGAGAAACTCAAGCTCAAAGAACAAAGCAGGTGCTACATATCAGCATAAAGCACAAAGTAGGAGGGTGGCCTTGAGGCAAGCTGAAACCCACCCTGCAGGTTGGACTGGCTGCAGGTGACTGCATGCTGAGCATCAGACTAAAGTGCAGGGAAGGAAGTCATAATGCCAGGCCATGTTCCCATAAACGGGCAGTCCAGTCAGATGGGAGGTCTCTATTGATCGCCCTTTACTGCATCATAACAGTGTCAGACATGAGACCTGAAAGCCCATCTTTCTGCCTGCTGCACTCGATCAATATGATAGATCTTTCCCTTAGAGGCCTGTCTGAATCCTATTTTCTGCCTACACACATGTGGAGCTAAATTGATGATGATGACTCATGGGCTTCAGAGCATCTGTAAACTGTTATTATCACCATCCACACCAGCACTTTATTGATCTCCTCTATTAGGCATTGACTCATTTTATGACCACCCTTTTTTAGGAAGCCAATAGGTTAACCTCTTTCCTCTCTACCAATACTCAGGGTAAATGTAGACCCAGTCAAAGGTGGTCCGTTTCTGGTTACGCATGAGAGTCATAACAGTTATTATTAGAGCCACGTGCATTTAAATATTTGTATTAAAACCAAAACCCTCATGATATTCTTTCCTTAAGGTTTAGGACAAAAAAGAGTTATCTTGGAGATAACTTCATCACACTGGTATATGAACTGAATTTACCAAACAGTTAAATAAACATTACAACTAATTATGAATATACAAGAACAAACTTGGGTTTGACCACGGATTGCTCTTCATGCACAGATTGCTCAACATTCTCTAATCAAGGATGATTAGAAAAGTATTTTAGTCCTGCTATTTTAATCTGCTGTAACTTTTAGTTTGATGTTTTCTTATGGGGTCAGCAGGGGGCTGACTCCCTCTGTGGTGACTCAGTGCCTAGTTATTATAATTTCAATCAGGCTGCTGGTGTCCTCTCTGCAGACTTGCATATCTTCTTCATGTTGGCCTATTCAGCGTCTCCATTAATATCTGGCACACAGTGAGCACTCAAGAAATAAACATGAAAAGAGGGAATGAGTGCTCTCTCCTTGGGAGTATTAACTCTTTACTACTCATACACGTGAATTCTATAATCATAGTCCTGGCCTAGAGTTTTTTAAGCAATGTAGAATGGAAAAGGTCTGATTGCTGCAGCACCAGGAAACTTTGACAAGCAAATATTTAATAACCATTGAATAAAACCTGAGGTTATCAGTTCTGTGAGACCCATATGACACATGCATATATGTATACGCACAGATAGACATATAAGCATGGGTATTTAGCAAATGTTTGCCTATGTGTACAGTGTATGTACTACAGGGTTCATCCAATTAGAGGGGTGATGTTCATTCCTACTGTTTTTATGTCTTCTCTTCTACACAGCAAATAATTATTTGTTGTAATCCAGTTCATATGCAATGCTTTAGGGAAGGCAAAATAACTTTAACCTTGCTGCTCTTTTTACCTACATCTCACATTTTCACTTTTACAAACACCAGAACTCTGATGTATTCTGAAACATTCAACATTTGTGCAAACTTTTTTGGAAGAGAACAAGCTACAAGGATTAAAGCATATTTGAATAAGAGAGAAAAATCTAGTGTTTCCCTATTAGGGTCAATAAAGCACTTGAAAAGCATGAACACCATTCTGGGGAGAGTAGCTGGGTTGAAGGCAATGCCATCAGCAAATAAAGGAATCCAAGCAGAGGAAGATCCAAAAATGGATTTTAACATAGACCTGTTGGATGGTCTTCATCTAGCCAATGTCCTACTTCATTAAAACATTATCTCTCTGTTTAACAGCTCATTTAAACATTTTCCACTTTCTTTAAAGAAAAACTCCTATGTATATGATGGACATAGAGATCACAACATTCAAAAAAGTGATTTTTCTCTGGAGACTTTTTTATGTTGTTAGATTTCAGTTGTGAATGATAAGTAGAGAACTTCAGATGTTACCTCTATTTAAACATCTGTTCAGCCAATATGTGATTTCATATTATAATCTGCTTCAGCTACATTTGCTTACCCGTTAATCAAAAACCATAAATTCTGCGTTGCACAATAGCTTTTTGGTTGTTGTTTGCATAGTTTCAATATAAGAATGCATATTTAAATGATTATCAGATGATAAGCCTTTATGAAAGTTTCTGCAATGGAATGCCTATTTTATGAATTTTTATGATTAAAAGGTATTATTACAAAAGTAATCTGAGAAGCTAGGAAACTAATAGTAAATTACATAATTATTTACCTCCTATTCAATATATTAAAAATGAAATTCCATTTTATGAGAGAAGGATGACCAGATAAAAAGAAACAGAAAACATTAAATCCTTTCTCTCTTTTCTTTCTGATTTTTCTTATAGTATATTGGATTGAAAGTATTTTCCTTAAATTTATGCACTTTTATAGTTTATCTTTCTATCCTGTGTTGTTTTGAAGAAAGTAAATCAGCAGTATCTAAATCTGTAGGATTTGCTTCCCTGGCTTACTAGTCATTATTGACATCAATAGGGTCTTGCAGATAAACCTAAATGAAAGTGTTCTACATCAAGATCTATCAGCTCTTTATCAGTTATCCATTTTGAGACATAGAAAGACATTTTTATTTCTGTCACTTGGGCTTGGTTCTTTGGTCAATTTCTGCAGAATTAATTAGAACTTTTCTTGTTACTCTGTAAATAGATTTTTCTAGGGTCTTCTTGCAGAAGAAAATTATTTTATGTTGGAATTCTCTGAGCAGTCACAGAAAGTCTGACAGTGAAATGGAGGTGACAGGAGTCTGTTTCAGGGAGAGGTACCTTTATGCTGATAGGTGAATTTTTTTTTTTTTTTTTTTTACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGATATCCCTCCTCCCTCCCTCCACCCCACGACAGGCCCTGGTGTGTGATGTTCCCCTTCCTGTGTCCAGGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGATGTTTGGTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCACGTCCCTACAAAGGACATGAACTCATCCTTTCTTATGGCTGCATAGTATTCCATGGTGTGTATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATATGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCTACAATGGTTGAACTAGTTTACAGTCCCATCAACGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGCTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTGTGAGCTGCATAAATGTCCTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCTTTTGTCAGATGAGTAGATTGCAAACATTTTCTCCCATTCTGTCGGTTGCCTGTTTACTCTGATGTTAGTATCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGTGTTTGGTGTTTTAGACGTGAAGTCCCTGCCCATGCCTATGTCCTGAATGATATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTACAATTTAAATCTTTAATCCATCTCGAATTAATTTTTGTACAAGATGTAAGAAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGTTGGTTGTAGATGTGTGGTATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTTGATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGATTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCAGGCTCTTTTTCAGTTCCACATGAACTTTAAAGCAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGACATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTAATTCTTCCTATCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTTCGTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTTAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAACGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGCACGTTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACAATGGGGTTTTTTAAATATACATTCATGTCACTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTGATTTCTTTCTTCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGCCTCCTGCCAGTTTTCTAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTAATAAATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGAGCTGTTGAATTTTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTGTGTTTATATGCTGGATTACATTTATTGATTTTCATATGTTGAACCAGCCTTGCATCCCAGGGATGAAGCAGATTTAACAGTGGTGGATAAGCTTTTTATGTGCTGCTGGATTCGATTTGCCACTATTTTATTGAGGATTTTTGCATTGATGCTTATCAGGGATATTGGTCTAACATTCTCTTTTTTTTGTTGTGCCTCTGCCAGGCTTTGGTATCTGGATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTGTTGATTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCGTCTGGTCCTGGACTTTTTTTGGATGGTAAGCTATTAATTATTACCTCAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGGGTGTATGTGTCAAGGAATTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCATAGAGGTGTTTATAGTATTCTCTGATGGTAGTTTGCATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGCGTCTATTTGATTCTTCTCTCTTTTCTTCTTTATTAGTCTTGCTAGTGGTCTATCTATTTTGTTGATCTTTTCAAAAAACCGGCTCCTGGATTCATTGATTTTTTTGAAGGGTTTTTTGTGTCTCTATCTCCTTCAGTTCTGCTCTGATCTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTCTCTAGTTCTTTTAATTGTGAAGTTAGAGTTTCAATTTTAGATCTTCCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTGCACATGGCTTTAAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCATTGGTTTCAAAGAACATCTTCATTTCTGCCTTCATTTCATTATTTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGTGGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGTGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGTAAAGAATGTATATTCTGTTGATTTGGGGTGGAGAATTCTGTAGATGTCTATTATGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGATATCCTTGTTAACTTTCTGTCTTGTTGGTCTGTCTAATGTTGACAGTGGGGTGTAAAAGTCTCCCATTATTATTGTGTGGGAGTCTATGTCTCTTTGTAGGTCTCTCAGAACTTGCTTTATTAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGTTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGATAGATCTTCCTCCATCCCTTTATTTTGAGCCAATGTGTGTCTCTGCACGTGAGGTGGGTCTCCTGAATACAGCACACTGATGGGTCTTGAGTCTTTATCCAATTTGCCAGTCTGTGTCTTTTAACTGGAGCATTTAGCCCACTTACATTTAAGGTTAATATTGTTATGTGTGAATTTGATCTTGTCATTATGATGTTAGCTGGTTATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGCATTGATAGGGTTTACAATTTGGCATGTTTTTGCAGTGGCTGGTACTGGTTGTTCCTTTCCATGTTGAGTGCTTCCTTCAGAAGCTCTAGTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTCGTCTGTAAAGAATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGATTAAAAATTCTTTTCTTTAAGAATGTGGAAGATCGGCCCCCACTCTCTTGTGGCTTGTAGAGTTTCTGCTGAGAGATCCCCTGTTAGTCTGATTGGCTTTCCTTTGTGGGTAACTCGACCTTTCTCTCTGGCTGCCTTTAACATTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTCTTGTCTTGGAGTTGCTCTTCTCGAGGAATATCTTTGTGCCATTCTCTGTATTTCCTGAATGTGAATGTTGGCCTGCTTTGCTAGGTTGAGGAAGTTCTCCTGGATAACATCCTGCAGTGTGTTTTCCAACTTGGTTGCATTCTCCCTGTCACTTTCAGGTACACCAATCAGACGGAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGATGCTTTGTTCATTTCTTTTTACTCTTTTTTCTCTAAACTTCTCTTCTCACTTCATTCATTTGATATTCAATCACTGATACACTTTCTTCCAGTTGATCAAATTGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCATGCCATGCTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACACTGGTTATTCTAGTGAGCCATTCACCTAATCTTTTTTCAAGGTTTTTAGCTTCTTTGTGATGGGTTAGAACTTCCTCCTTTACCTTGGAGAAGTCTGATCATCTGAAGCCTACTTCTCTCAACTCATCAAAGTCATTCTCTGTCCAGCTTTGTTCTGTTGCTGGCGAGGAGCTGCATTCCTTTGGAGGGGCAGAGGTGCTCTGATTTTTAGAATTTTCAGCTTTTCTGCTCTGTTTTTTCCCCATCTTTGTGATTTTATCTACCTTTGGTCTTTGATGATTGTGACGTACAGATGGGGTTTTGGTGTGGATGTCCTTTCTGTTTGTTAGTTTTCCTTCTAACAGTAAAGACCCTCAGCTGCACATCTTTTGGAGTTTGCTGGAGGTACACTCCAGACCCTGGTTGCTTGGGTATCAGCAGCGGAGGCTGCGGAAGAGCGAATATTGCTAAACAGCAAATGTTGCTGCCTGATCCTTCCTCTGGAAGCTTTGTCTCACAGGGGTACCTGGCCGTGTGAGGTGTCACTCTGCCCCTACTGGGGGCTGCCTCCCAGTTAGGCTACTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGTCCATTCTCAGATCTCCAGCTGCATGCTGGGAGAACCACTACTCTCTTCAAAACTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTTCTGCTGCCTTTTGTTTGGCTATGCTCTGCCCCCAGAAGTGGAGTCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCGGCTTTGTTTACCTACTCAAGCCTCAGCAATGGCAGGCACCCCACCCCCAGTCTCGCTGCCACCTTGCAGTTCAATCTCAGACTGCTGTGCTAGCAATGAGCGAGGCTCCGTTGGAGTGGGACCCTCTGAGCCATGCAGGGGATATAATCTCCTGGTGTGCCGTTTGCTAAGACCATTGGAAAAGTGCAGCATTAGGATGGCAGTGACCTAATTTTCCAGGTGCCGTCTGTCACAGCTTCCCTTGGCTAGGAAAGGGAATTCCCTGACCCCTGCACTTCCTGGGTGAGGCGATGCCTTGCCCTGCTTTGGCACATGCTCAGTGGGCTACATCCACTGTCCTGCACCCACTGTCCGACAAGTCCCAGTGAGATGAACCTGGTACCTCAGTTGGAAATGCAGAAATCCCCTGTCTTCTGCATCGCTCATGCTGGGAGCTGTAAACTGGAGCTGTTCCTATTTGGCCATCTTGGAACCCAGCCCGATAGTTGAATCTTATGGGATAAGGGAATCTAAGCTCTTCAAAAAACAAAGAAACCCAACAACTTACAAATATAAACATGAACATTTTAATCAAGCTTGCATGAAATGAAAGTATTTGTAGATCTGTTTGAAGCACATTTTTATGGTTAAAAAAAAAACATGGATTTTATTTCCATTGAAGATTATTGAGGATTTCGGGTAAATCATCTTCAGCCTGAATCCCTTCTGCTCTTCCTTACCCATAATGCTCCTGTGTCATGAAGGGTCTTAATGCTTATTGAGCTCTGTTAAGTTTTCCACAATTAAAACTCAAATTATCCAGCATTTACTTTTAATCAATGCTCACTTTATTTTCTCATTTAAGGAATCATTTTCTCATAAGTGGAAAATAAATTACAGTGTTCCTCTCCCAAGCTCCTTCTTGTCTTTGGACTATATAGTTTCTCATGCATGATGTGGATTATTGATTAATTCCCACTAACACCAAGTGGAGAGAATAAGGACATTTATATCCTCACACAGATGTATACACAGTTACACACACATGCACACACACATACCTTGAATATACATACTAGTGAAGCAGTGATATTTGGGTGTGCATGTCTAACACATTTATTATTTGATAATCTAAACTTCCTTCAGATGCAAGCAGAGAACATGTATATTATTTTTCACAGCTTTTGATTTGAATCACTCAGTAGGCTCCTCTTTTCTCTGAATAAAATATAAGAATGTCCCCATAGCACTTCGAGCCATATTTAGATACCAACAAATTTTGTTTAAAACCAGATCATTTTAATATAGAGGGAGTATAGCTCCCTCTTTCTATATCCTCTGCTCCCTCTATGTGAACTCTAGAAGTCCTCTTATTTTTAGACATGTTTTAGCATGAGCAACATATCCTTCTATCTTTAAACTCCAGGGAACGCATGTACACTAAGTGATTCTTTGGAGTTCCATTCTCTTGACTTGTGAGAAAAGGAAAGCATCTCTCTTCCTCATGGAGAGGGGTAAAAATATAATAATCCAACCTCTCTCTCTTTCTTCCCTGCTACCACCCAATCTTCTGCAACAGCCACAATGATGCTTAACTTCCTGTTCTATATGCTGGAGGTAGGTGATGGGTGATGTACTGGTGCTAGCAGAACCTGTCTTTGGCCACCTAGATTTGGAAGTCCTATATGTGGTGGGAAGAAGATGTTTAAGAATCAGGCTTCCAATTTTTTCTCTCCCTTTATGGTGGGTTTGGGGAGATGTTTTTGGGAAAAAAAAAAGGTTCCCCAGTGGATAGACTTCTTAGAAAACAATGATATCTGCTTTCAGGGGACTCATCATTAATAGAAAGCTTTCAGCAAGATATATCTGATCTTTCTAGGATTATTTACAGAAAACAAACAAACAAAGCTGGAATCCATGGATTTATGAGGCATAGTTCTCCAGAAAATATCGTGTAAGCCAAATAATGATTTAAACATTAAATGGAGATTTTTCATGACCAAAACAATACCTTTCCATGTAAGTAATATGTCTCCATATACAAGATAAAGTAACCTGAACCAAAGTGCATCTGTCTGTAGTAAGAGAGGCCCTGGGAAGCTGCATGGGCAGTCCTGAACTTCTCTCTGCTTTGGCTCTGCCTCATGATTATTTGTGTCCTTCAAATTATTATGAAAGCTTGAATTTGCAGAACGCCTCTGATTCTTAAGCATCTGAACAAACAGACCAATTTTCTGTGTTATCTCAGATGGTCTAACCCTTTGCTTTAGAAGGTAGACTTACATTTCATTTTTTTTTTAATGTTTGGCATCAAAAAAGGATGTTTCTCTCTGAGATATCCTTACTTCATATGTAATAATAAAGGAACTTCTTAATTTTGTTTGGTTTTGTTTAGGGATCAAATCTAAAAAGTGCTCTTTGAATGTTAGGTTTTTCCTGATTCCAGTATACAGGATGCCACACCTTGAAGGTGGCCTCTGTAACTGATCTCCACTAGACGATGAACTTCTTAAGGGCAGGGACCACATAGGAGTCACCTTAGGATCACTGGCATCTAGCACAGAACGGATGTTCAAAAAAATGAGTAGTGGTGATTTTAGTTGGTGTTCAGGACCTGTTGTTTGCTGGAGTTTATGAATGAGGAATGGGCCTGAAATAATATTTAATTGTGTCTCAAGGGCTTTATTTTTGGCTGTAGAATAGGTTGTGGCACAAGCCTGGGAGTAGAGAAGGTAGAAGGCACCAGAACATAACTGATATATACTCCCCTGCTGTATTACTCCATTCTCACACTGCTAATAAATACATACCCAAGACTGGGTAATTTATAAAGGAAAGGGGTTTAATTGACTCAGAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGTAGGCAAAGGAAGAGCAAAGAGAGAGAGATGTGCAAGGGAACTCCCTTTATAAAACTATCAGATCTCATGAGACGTATTCATTATCATGAGAACAGCACAGGACAGACCCGCCTTCATGATTCAGTTACCTCCCACCGGGTACTTCCCATGACACATAGGAATTATGGGAGCTACAATGTGAGATTTGGGTGGGGAAACAGACAAACCGTATCACCCGCTAAACATCATGCATAAATTTCAGCCTTATACAGTGAAGGGAGCCGTTTTCTGATTATACTGAGATTTGGGCATAAGTCATTTCGCTTTGGTTGCAAATCATGTGATAGATTATGGAAGAAGGGTATTAATATAGTTTGGCTCTGTGTCCCTACCCAAATCTCACCTTGAATTATACTCCCCATGATCCTCACGTGTCAAGGGTGGGACCAGGTGGAGGTAACTGTATCATGGGGTGGTTTCCCCCATGCTGTTCTTGTGATAATGAGTGAGTCTCAAGAAATCTGATGGTTTTATAACTGGCATTTCCCCTGCTACACTCACTCTGTCCTGCCACCCTGTGAAGAAAGTGCCTGCTTCTCTTTTGCCTTCTTTCATTATTGCAAGTCTCCTGCAGCCCTCACAGCACAGTGGAATTGTGAGTTAATGAAATCTCTTGTCTTTATAAATTCCCCAGCCTTGGGTATTTCTTCATTGCAGCATGAGAACGAACTAATACATGTATTCTTCCTTTTATTCTTGGAGCAGTATTGTTCAGACAGTGTGATAACCAAGGGATCATACAGCATTGTACAGTCAGTTGAACTTTTGGCTGTGGAAGTGCATGAAACCCCTGCCTTGTCAGGAATCAGTATTCTCATGTAGAAAGCAGTAGTCATATGATAGATGTTATTCTCAAGTAGCATGGAAGACAGAGGCTATCAGTAAAAACTGCATACTAGAAAAACACAAAAAAATTGTTTATGACCAGGTAGAGGAAACATCTGTGGATTTACAATACAGACAAAGAAACTAGAGAAAGTTTCGATTTGGATGGCAGGGGGAGGAGGTTCAAAGTTCTACATCAAGCAGGTTGGAATAGTGAAATAATGAAATACATGTATTCATGTCAAGGTGTTATTTGTTGTACCAAGAGTCTATTGGACTCTGGAGAAATATTGATTACAAAAATTGGCTGAGTGAATGGAAATATCCAAGTGTTTATTTTTCTAAGTCCAATACAATAAAAAAGTTCCAGATAATATTACACAAGAAAAATTTTAAATTGGGATTAAATAATAAAAGGAGATCAAAGAGGTCATAAACTTTGATGTGTCTGCTAGAGCAGAGTTAGGCTGAAGACAACAGTTTATTTCCAAATAGAGATATTATCATGTGTTGAGTGACTTACAAAATCACTGGAAAGGTTGTGGAAGAAAGCTCTACCCTGAGAGTCCAGGAATTTCTACCAGTGGTAGGGAAGCTTCCACCTGAGCTTTCAGCAAGCCATCACATTAGGAAATCACTAACCAGTTTGCACTGTTTCTCACAATTTACAACAGAATGAATGCCTTATGCTCTGCTCCTCTCCCCACTCAATTCAGTTTCAAATCCAAATCTCATACAAGTGCATCAAGTTGGTAGAACCTTAACCAGATCTAGAACACCAGCAGCAGGGAAATCTGAGATATGCAGCTTTCAGCTTTCCAGCCTCTACAATTTGGAAAGACGCCACAGAATGTTGTTGGAATGGATGCGAAACTAGCCATTGCGCAGAACCCATCATGGTCAGGGTTTAGAAAATTTACTTCATCCCATACCTTACACTGTTTATTTATTCATATAATAAATATTTATTGAATGTCTGTTAGGTTTTAGATCCCATTTCTTGGTTTTATCAATAAACATGATAGAAAGGTAGAGAAAAATAAGCTTGGGTTCTTTTTCTCTTTATTTTTATTTTATTTTATTCTACTTTGAAAGTAAAATTTGAGGTAGTATGATTTGAAGCTGGGTGTGCCTTCTGTAAGAGATGTCTTTGTCTCTGCAGAAGGAGAACAGGTCAGGGAGTGGTTGAGGGGAACAGGAGGCAGACTGCTGGCTAGTTAGAATTGGCTGTGTTCTCAGCCTTGAAGAGGAAGGATGATAGGAATTATAAGGTTTTAGAATTTCCTAGCTATATGCACCAGGGTAAAGAGTAGAAAGGTCAGGATAGAATTTATTTGGCTAGAATGTCCCTTTCATTTGATCTCAGAAACTAAGCCTGACCATAACAGCTGAAGGGAATAGGTTGGAGCACTCAACTGAGAGGAAATGCAAACACAAAACCTTAGATAGCAGGGCACATACCTGCAGCAAAAGGATAGCAATTGTACAGAGGGACATGGACTTCAGCCTAAGCCCTTCAGAACTGCTGCGAGCAGAAGCGAGGAAAAGCATGGAGTGCAGGTAATTCCCTGATACAGTCAAATACAGAGTCTCAAAATGTAAAAGATGCCAATTATTTCATAAGATTCTTCCCTTAGGTGTTTCATTTTTCCAGTTATGGACTTGGACTGAAAATGCTGTGAGGAGAGCTAGATACCATATATGTCAAAATATGAGGAAAAATTATCAAAGAAATAGTCAAATTTGGTAGTATTTTAAAGTTTGAGTGAAATAAATTATTATTTAAAAATAACCACTCATCTATTAGTAACGAACTTGAATTTTCATGTTTTTGTCTGGATTCTTAAAGAACTCTGTTAAAAGGAATTGTCTGAAATTTCACCAAAGTGCTCAAGCTCATTTATACATCTACAATTACCTTTACAGCCCATTTATGAGGTGAGTGGAGGAAGTAAAAAACAATTTTTATAAATCTGAAAATTATGAAGCAATAGTTATTAATGGGATGAGTGTTACATAATGACAATTGCTACCTTTTACTGAGAAGTTGCCATAGAGTAGGGGTTGAAAGTCCTTTGCTTTCATTATAGCTAATCCTCACAAGTCTGCATGGTAGATATGTTTGTTCCCCACTGACAAATTGGGAAGCCGAGGCTGAGAGAGGCTAAAGCAATCACTAGCATTTGCAAAGCCAAGAAGTATTAGAACCAGCATTTGAACCTAGGCTAATGTGATTCCAAAATCTATAGTTTTTTTTCGGCACACCTCATGACTAATACCAAGACACTGTACAATCATCACCAGAACACCACAAAGCTGCCCCCTGTCCACTACTCTGCTATCATCAGAAGTGCTAATAGAATCAAGATCTTCATACTCAGGTAAGTACTTTAGTGGCTTGAGCATAAACAAATAAATACATAAAAATCTTTGGGACTCCCAAAGATTTCTTGTACAATACAATATCTTGTGTTTGCTTCTTGAAGCTTCCTCCCATGTTCTTTATCCTGTTTGTCTCAGTTATAAGGTTAGGTGCAAGGCTGTTCTTGCTTTGGAAAAATATTCTGTAGCCATTTGGTGCATGTGAGTGTTCTCTTAGGATACTGAACTTCCCTGTTTTCCATTAATGTTTATATAGTATCTTTTTGCATGTAGCTTCTGCTGATCAAGATTTAGGCATGGGCCATGAACTCCAACATTCTAGCAAGACACAGGACAGCTTGAATAATCTAATAAGCAAAAAACAAGAGGCTGCTTATAGCTAGAGGCTGCCTCCCTAGTCCTACAAGTTTGTATCCACAAGATCATGTTTAAGTTGTATAACTGAAACTCAGAAATCATTAACTTTGTTTCAAACTGATATTCAAGTGCTGCCAATGGCCAAGGGCAGGAATGGGAAAGAACAGCTCCTGGCAGTGCAGAGGAATCATTTAGGACTTATCCTGCCCTGTGGTCGTGTCCAATGTTCTGTTGGTGGGTCTTCCCAGACAGAAAATCTCCTTTGGAGGGGCCAGTGCTGTGGAGCAACAATTTGATCCACCCACTGAATTTTTCATTGGCCATTTCTACAGACGACAGCTTTGTGGACAAAAAAGTCTATCCTTTATATGTAAGATGCCAAAAATCATGATATTAAAGATAGTTTTAGTTAGGTCAGGAGCTCTTAATGTGTGACCTACATATGGGCTTTCAAAGGGTTCAACAGTCCACTGAATTTTAAAGGAAGATAGTAGTGTTATTTGTGCAGATGTGAACGTTTGTGTGGGTGGGAAAGTCCACAAGCAAGGTCTGAGATTTTTAAAAAAGGAGGAGGGAGTATAAAAAGGCAAGTATGTGCTAAATCAAAACAAACGTGAACTGTGCAAAAATAATAGTAATAACGTTTGCTTTGCAGAGATAAAACTAAAACATAACTAAAATATTAGATAACAATAATATTCAAGGTAGAAGGAGAATAATAGAAGTTAAAGCAATCTAAGGTCGTTTTTGTGTACAGGAGGAGCATAAAAGTATTGATTAACTTTAGAGCTTGTAAAATTAAATGTGCATTTAAAGACCAGGTACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGATTCTGTCTCTATAAAAAAAAAAAAAAAAAAAAAAAAGTACGAAAAGTTAGCCAGGCATGGTAACACATGCCTGTAGTCTCAGCTGCTCGGGAGGCTGATATGAGTGGATCGCTTGAGCCCAGGAGGCAGAGTGACCTGAAATCGCACCACTGCATTCCACCCTGGGCAATAGAGCAAGATCCTGTCTCAAAAAAAAAAAATTTGTCTAAATATTTTAGCATAAACATTAAGACAGAGAAATAGAGTAATACTCAAACTATACATAATTAAGGAGGTAAAGCAAACAAACAGCTCAATAATACCAAAAGAACAAGAAAGGAAAAATTCCTGAAAATATTTTTAAAAGGTTAATAAGCACAAATATAAGGACATCTATGAATTTTTTAAAAATCTGTATTTATAAATAAAATGTAATAAATTCTCCAGGTGAACGATAAAACTTGGTTAGGCTGGACAAAAGAAACTACGTCTTACCATGTGCTCTTTCTAAAAAGCACATCTAAATCAGAAGAGCACAGAAAAGGTGAAAAAAACACACACAAGGGTAAGAGGTTGGATGTGTCTCCTAAAGTTCATGTGTTGGAAACTTAATCCCCAATGCAATAGTGTAGAGAGGTGAGGCCTTTAAGAGGTAGTTAGGACATAAGGGCTTTGCTCTAATTAATAGATTAATGCTATTATTCAGGAGTGGATCAGTTATCACGGGAGTGGGTTCCCGATAAAAGGATGAGTTTGCCCTGCTTCCTCTCCCTATCTGCAGCTCTTTTCTCCTTCCTCCTTTCACCATGTGATGACACAGCACAAAGGCCCTCACCAAATGCAGCCCCTTAAAGTTAGAACCATGTGTCAAATAAATTTCTGTTCATTATAAGTTATCCAGTCTCAAATATTCTGTTATAGCAGCACAAAACACACTAAAAAAATTAGTGTTGAGAAGTGAGGCTATTGCTGGAACAAACACTTGAAAATGTGCAAGTGGCTTTGGAACTGGGTGATAGGTAGAAGCTGGAAAATTCTGTACACTCAGGAAAGAAAAAGCTTATATTGCCACGGAACATTAAGAGCAATTCTAGTGAGGGCCCAGAAGGAGAAAAGAGCTGTAGCGAGAGCCTAAACCTTTGTAGGGATTACTTAAGTGGTTGTGATCAAAATGTTGGTAGAAATATGGAAACTGAAAGCTATTTTGATAAGTTCTCAGACGGAACTGAGGAACAAGGGAGTGAAATCTGGAATAAAGGCCATCTTTATTATACAGTTGCAAAAAACTTGGCAGAATTGTGTCCAGGTTCCAGGACTTTGTGGATGGCAGAACTTAAGAGGAATGAACTAAGATATCTGGCAGAATAAGTATCAAAGCAGCAAAGCATTCAAGGTGCTACATGGCTTCTTTTGGCCACTACAGTAACATAAGAGAAAAGAGAAATTATTTAACAGAGAAATTTATAATTAAAAGCAAAGCAGAACAGAAAGATTTGGAAAGCTTTCAGCTTGGTCATGTACAGAATAAAAAAGTATGTTAAGGGGCAAATACAAAGGGTGTGCCCAAGTGACCATTTGGTAAAGAGATTAATATGGATAGAATAAATCCAGGCTGTATTAATCAAGACAATGGAGAAAATTACCCCAAAGACATTTCAGTGATCAAGGCAAGCTAGGTCCTTGAGAGCAAGGTTTTCAGAGAAGTACACATGGGACCTCAGTATTTGCTGCCTGGGGCCACCTCAAGACTCTGCTTTCTGCATCCCAGTGCAGTGCTCCTTGGCTGTCCCAGCCATAGCTCAAGCATGCCAGGTGCATCTCATGCCACAGCTCCAAAGGGTGCAAACAGTAAGCTTTGGCGGCATCCACATGATGCTCCAGTGCACGTCAAGTCTGCAGACAGAGTGCACGAGCTGTGAGGCCATGGTGACCTCCACTGGATTTCAAAGGATGTATTGAACAGCCAGGGGCCCAGGCAGAAACTTGTCACAGGAACAGAGCCACCACAGTAAGCTGCTACTAGGGCAGTGCCCAGCAAGGCCACAGGAGAGAAGCCCCTGCAGAGAGTGCCTATAGGTAATGTCTAGCAGGGCCATGGGAGTGGGGCAGCCCCCGCAAGACCTCAGAACTGTTGAGCCACCTGCATGCAATTCCAGTCTGGGAAAGCTGTAGGCATGAGACCTGTGAGAGCTGCTGGGTGAACTGAGCCCAGCAAAGCCAAAGGAGCAGGGCTCCCTGAGGCACTGGGTATCTAGTCCCTGCCCCAGTGTGCCTAGGAGGTGAGACATGGAGTCAAAAGAGATTATACTGGAATCTTAACATTTATTACTGTTTTCACTCTTGGATTTTGGACTTACTTGCGACCAGCTACTTCTTTCTTTTTGCCTGTTTCATCCTTTTGGAATGGGAATGTCTATCTTTTGTCTATCTCACTGTATTTTGGAAGCATGTACTTGTTTTGGTTTCATGTGCTCATAGCTGGAGGGGAATTTGCCTCAGCATAGATCATGCCTTGAGTCTCACTCAATCTGATTTTGATGAGAATCTGGACTTTGGACTTTACAGTTGATGTTGGAACAACTTATGACTTTATTGGGGCTATTGGGATGGAATTAATATATTTCACATATGAGAAGAACATACATTTGAGGGGCAAAGGGTGAAATGCTATGATTTGAATGTGTTCCTGAAAGTTTATGGGCTGGGAATTTAGCCTCCAATGCAACAGTGTTGAGAGATGGGAGCTTTTAGGTTGTGAGGGTTCTGCCCTCATTAATGGATTAATGCCATTAACATGTAAGTAGGTTAGTTATTGCAGGAGTGAGTTCTTGATAAAAGAAGGAGTTTGACTCCATTTCTGTCTCTCTCTTGCATGCTCTTCTACCCTTCCACCTTCTGCCTTCTGCTGTGACATGATACAGTAAGAAGGCCCTCACTAGATGCTGAGAAGATGCCAATGCCACTGCCATGCCCTTGGACTTCCCAGCCTCCAGAATCATGAGCCAAATAAATTTCTGTTCATTGTAAGTTATCCACATTGAAAATGAATGGAGGAAGGATGAAGATGTGAGCTGAAGGGAGAGGAAGCTGACAACCCTGCACCAGGCTACCTACCATCAGGACTTTTTCTTGGTTCCCAGGAACTCCTGGGGAAAAGGTGAGGTGGACAGGTGAGGAGTAGCCTGATCTCACCATGTACCTCTGGGCAACAGAAAACTCCACAACACCTATGGACACTTAAGTTGGCAGGAAGAGCTGCTTAGAGAAGTAGGAGGAGCAGGACCCAAGACTGCATGGGTTTGGTGCAGGAATATCTCTAGTGGGGCACAGCCAGGGATACCCTTCACCCAAGGCCTGCCAGATTCCTCTAGGAGACTTTAGATATTGGGGGACTGCTGAACCTGGAGAGAGTAGGGTGGTCTTGGCTTTGAGACGGGACCAGTCCAATCTGAGCACACCCCTGTCCACTGGCCTCTCCTAGGGCCCCAGACCTGGCCATGCCCACTGGCGGGACAGCCTTAGATGCCCAACCAGGGTGCTTCACAGGGGCCCTCATCATAGCTTCTTTACCTGCAGACCACAACTGACCATCTAAGAGCTCCAGCAGATTGGTCCCAGCTGACATGCAGTGACTCACTCACACCCTCTCCCAATCTTTCCTATGCTGCTTTGCTGGCATGTACTCACCCATGGCCAACCCCCTACTGCTTTGCTGGCATGCCTGCACGTGGGTGAGCCTCACCTTTGTCCTATGCCAGGGAGTATGTGCATGATTACCCTGCTGTGCCACTTCTGCTGGTGTGAGTTCAACCTGTTGCCACCCCAAACACCTATTCTGGCACGCGGGCACCCAGCCACACTGCCAATGCCAGCATGAACACACAGACAGATGCCATCAATCTTGCCCCCATCCCCTGAAGCCATTGCCACCAGAGTGAATAAGTGCATAGATGCCAGTGGCTCTGCTCCCCCCATGATGACACCACCACCATTGTAAACACACACATGAACACCAGTAACCTTGCCCAACCCCGTGCTGTGACCACCATGAATGTGCACATGGAGGCCAGTAATCCCCATGCCCACCAGTACCCCCACTGCACTGCTGCTGCCAGTGTGAGTGCAAATACAGACACCAGCAAACCTGCCCCTGACTGTGCCCCAGTGCTGGCATGAGAATGTGCAGGAATGCCACAGCCCTGTTTCCACTGGTTTACCCCACCCCAGCCAATGTATGTGCACCCTGCCACACTGCCATGGTTGCTGGCATGCAAAAGTGAGCAAGGATCCTGATGCCACCACCCCAGTGAAGCACTCTGGCCAGTAGCACCCATCAGAGTGCTGTGGCCAGTGGACCAGGAATATCTCAGCCCATCCAGCACAGCTGGTTCCAAACCTCAAGGGACAAGAGAACAAAACCAGGGTCCTGGTACCAGGCCCTGTGTTAAAGAATGCAGACCAGGAGTGCTGAGCTGAGCTTTGGTCTCCTAAAATCTTTCAGACATCAACTCAGTTGACCAAGCCCACCTTCTACGACAATCAAACTTCCAAGGGTATCAAAGAAGACAAAAGCAAGGAACCTCATCCAAAGGACAGTAACTTCAAAGATTGAAGGAACATCTGCACACACAGGTAAGAAAGACCTAGGGCAAGCACTCTGGCAACTTGAAAAGCCAGAATGTCTTCTTACCTCCAAACACCGCAATAGTTCCCCAGCAATGGTTCTTAACCAGGCTAAAATGGCTGAAATGACAGAAATATAATTCAGAAGATGAATAGAAATAAAGATCATTGACATAAAGGAGAAAGCTGAAACCCAGTCTAAGGGATACAATGAAATGATATAGGAGATAAAAGATAAAATGGCTGTTTTAAGAAAGAATGAAACTGATCTGGTAGAGCTAAAACTCTCATTTCAAGAATTTTATAATATAATTGCAAGTACCAATAGCAGAATTGACCAAGTTGAGGAAAGAATCTCAGAGCTCAAACACTAGTTTTGCAAAGTAATTCAGTATGACAAAAAAAGAAAGAAAAGAAAGAAGAATAAACAAAACCTCTAAGCAATATGGGATTATGTAAAGAGACCAAATCTATGACTCATCAGCATCCCTGAAAGAGAGGGACAGAAACCAAGCAACGTGGAAAACATATTTGAGGATCTTGTCCACAAAAATTTCCCCAACCTCGCTAGTGAGACCAAGATTCAAGTTCAGAAAATGCAGAGAACTTCTGCAAGATACTATACAATACGAACATCCCCAAGAGACATAGTCATCAGACTCTCCAAGGTCAAAATAAAAGAAAAAAATATTAAAGCCATCTAGACAGAAGAGGCACATCACTTAAAAAGGGAATCCTATCAGCTAACAGCAAACTTTTCAGCAGAAATCCTACAAGCCAGAAGAAATCAAGGACCCATATTCAGCATTCTATAAGAAAAAAAAAATTTCAACCAAGAATTTTATATCCATCTAAACTAAGCTTTATAAGCAAAGGAGAAATAAGATTCTTTCCAGATAAACAAATGCTAAGGGAATTTGTTACCACCAGACCTGCCTTACAAAAGGGAATGCTAAATATGGAAAGTAAAGACCATTACCAGCCACCACATAAACACACTTAAGTATATAGACCATTGCCACTGTAAAGCAATCACACAATTAAGCCTGCTAAATAACCAGCTAACAACATGGTGACAGGATCAAATTTGCACATATCAACATTAACCTTGAAGACAAATGGGCTAAATGCTGCAGTTAAAAGGCACAGAGTGGCAAGTTGGATAAAGAGGCAAGACTCAACTGCACGCTGTCTTCAAGAGAATCATCTCTCATACAATGACACCCATATGCTCAAAGTAAAGGGATAGAAAAATCCTACCAAAGAAATAGAAAACAGAAAAAAGCAGGAGTTGCTATTCTAATTTCAAACAAAACAGACTTTAAACCAACAGCAATAAAAAAAAGAACAGCGTTTCATAATGGTAAAGGGCTCAATTCAACAAGAAGACCTAACTATCCTTAATATATATGCACCCAAAACAGAAGCACCCAGATTCATAAATCAAATTTTCAAGGACTTACACAGAGACTTAGATGGCCACACAATAACAGTGGGAGACTTAACATCCTACTGAATGTATTAGAAAGATCGTCAAAGTAGAAAACTGACAAAGATATTCAGGACCTGACCTCAACACTTGACCAAATGAGCCTAAAGGATATCTACAGCACTCTCCACCTCAAAACAACAGAATATACATTCTTCTCATCTGCACATGGCACACACTCTAAAATTAGCCACACAGTTGGTTATAATACAATTGTCAGCATGTTCACAAAGTCCATAATTATACCAACTACACTCCTGGACCACAGCCCCCCCCAGAAATCGAAATCAATACTAAGAAGATTGCTCAAAACCATAAAGTGATATGAAAATTAAACGACCAGCTTCTGAATGACATTTGGGTAAATGATGACATTAAGGCAAAAGTCAAGAAGTTTTTGAAACAAATTAGAACAAAGCTAAAACATACCAGATTCTCTCAGACACAGCTAAAGCAATGTTAAGAGGAAAGTTTATAGGACTAAAAGCCTACATCAAAAATTTAGAAAAATATTAAATTAACAACCTAACATTACACCTAGAGTAACTAAAGAAAAATAAACAAGAGCAAACCAACCCCAAAGCCAGCAGAAGACAAGAAATAACCCAAATCAGAGCTGAACTGAATGAAGTTGAGATAAAAAAAAAAAAAAAACATACAAAACATCAACAAATTCAGGAGCTTGTTCTTTGAAAGCATAGGTAACAATGATAAACCACTGTCAAGACTAATAAAGAAAAAAAGAGGGAATGTCCAAATAAACACAATCAGAAATGACAAATGGGACATGACCACTAACCCCACAGAAATACAAAAAAAAAAAAAAAAACCCATAGACTACTATGAACACCTCTGTGCACACAAACTAGAAATCCTAAAAGAAATGGATAAATTCCTGGAAACATACAACCTCTCAATATTAAATCAGGAAAAAATGGAAACTAAACAGACCAACAATGAGTTTTAAAATTTAATTAGATATTAAAAAAACCCCTACCAACCAGAAAAAGCCCAGGATCAGATGTATTCATAGCCAAATTCTACCCCATGTACAAAGAAGAGCTGGTACCATTCCTACAGAAGCTATTCCAAAAAATTGAGGAGGGACTGGTCCTGAGCTCATTCTATGAGGTCAGCATCATCCTGATACCCAAACCTGGCAGAAATACAAAAAATAAAAATAAAACTTCAGGCCAATATTTCTGATGAAGATAATGGCAAAAATCCACAATAAAATACTAGCATTCTGAATCCAGCAGCTAATGTACTATGATCAACAAGTAGGCTTTATCCCTGGGATGCAAGTTTGGTTCAACATAAATAAATTGATAAATGTGATTCATCATCTAAACAGAACTAAAGCAAAACACACTGGATCATCTCAATAGATGCATAAAAGGCTTTTGATAATATTCAAAATTCCTTCATGTTAAAAATCCCTCAACAAAGTAGCCATCCTAGGAACACACCTCAAAATAATAAGATCCATCTATGACATACCTACAGACAACATGATGATACTGAATAAACAAAAGCTGGAAGCATTTCCCTTGAGAACCTGAACAAGACAAGATGGCTTTCTCACCACTCCTATTCAATATAGTACTACAAGTCCTGGCAATCAGGCAAGAGAAGAAATTTAAAAAGGCATCCAAATAGAAAGAGAGGAAGTCAAAATATCCCCGTTTGCAGACAGTATGAGTCGCATAGAAAACCCTGTGGTCTCTGCCCAAAAGTTCCTTGACCTGATAAACAACTTCAGGCAAGAGAAGAAATAAAAAAGGCATCCAAATAGGACGAGAGGAAGTGAAACTATTTCTGTTTGCAGAAAATATGATTTTATACCTAAAAAACCCCATGGTCTCTGCCAAAAAGCTCCGTAATCTGATAAACAACTTCAGCAAAGTTTCAGGATACAAAATCAATGCACAAAAATCAGTAGCATTTCAATACACCAACAATATCCAAGCTGAGAGCCAAATCAAGAACACAATCCCATTCACAATAGCCACAAATAAAATAAAATACCTAGGAATACAGCTAAGTAGGAGGCAAAAGGATCTGTATAACAAGAATTGCAAATCACTTCTCAAAGAAATCAGAGAAGACACCAACAAATGGAAAAACATTCCATGCTCATAAGGATAGGAAGAATCAATATTGTTAAAATGGCCATACTGAACAAAGAAATTCATAGCTTTGATGCTCTTCCTGTCAAACTACCAATGACACTCTTCACAGAAATAGAAAAAACTCTTTTACTTTGGGAGGCTGAGGCGGGCAGATCACGAAATCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAAAAATAAATCAGCCGGGCGTGATGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCGTGAATCCATGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAACAAAAAAGAAAAGAAAAAACTCTTTTAAAATTCATATGGAACCAAAAAAGAGCCTGAATATCAAAGGCAATCCTAACCAAAAAGAACAAAGCAGGAGGCATCACATTACCTGACTTCAATCTGTACCACAGGAGTACAGAAGGTATTACTGTACCACAGGAGTACAGTAATAGAAATAGCATGGTACTGGTACAAAAGCAAATACACAGACCAATGAAATAGAATACAGAGTCCACAAATAATGCCACACCCCTCATCTTCACAGATCCACAAATAATGTCACAACTATCTGATGTTCGACAAAGTTGACAAAACAAGTAATGGAGAAAAGACTCTGTATTAGTTCATTTTCACACTGCTATAAAGACATACCCAAGACTGCATAATTTATTTAAAAAGTAGGTTTAACTGACTCACAGTTCCTCATCGCTGGGGAGGTATCAGGAAATTTACAATCATGGTGGAAAGGGAAGAGGCACATCTTACATGGCAGCAGGCAAGAGAGCGAGTGTGTGAAGGAGGAACTGTCAGACACTTATAAAACCATCAGATCTCATGAGAACTCACTTGCTATCATGAGAACAGCATGGGGGACACCACCCCCATAATCTAATCACTTCCCACCAGGTCTCTCCCTTGACATGTGGGGATTATGAGGATTACAATTCAAAATGAGATTTGGGTGGGGACACAAAGCCTAACCATATTAGACTATTCAATAGATGGTGCTGGGATAACTGGCTAACCATATGCAGAGACTAAAACTGGACCTCTTTGTTACACCATATATAAAAATCAACTCAAGATGGATTAAAGACTTAAATGTAAAACTCAAAACTATATAAACCCTGGAAGATAATCCAGGAGATACCATTCTGGATAGAGGTCCTGGCAAAGATTTCATGACAAAGATGACAAAACAAATTGCAACAAAACCAAAAATTGACAAATAGGACCTAATTAAACTAAAAAGCTTCTGCAAGCAAAGGAAACTATTAACAGAGTAAACAGACAACCTACAGAATGGAAGAAAATATTTGCAAACCATATATTCTACAAAGGTCTAATATCCAGCATCTATAAGGAACTTAAACAAATGAAGAAGCAAAAACAAAAAATCCCACTGAAAAGTGGGCAAAGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACACGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACTTAAATAATAAAAAAAAAGTGGGCAAAGGACATGAACAAACATTTTCAAAAGAAGATATATACATGGCCAATAAGCATAAAAAAATGTTCAACATCATTTATCACAGAAATGGAAATCAAAACCAAAATGAGATACAATCTCACACCAGCCAGAATGGTTATTATTAAAAAGTCAAAAAAAAAAAAACCCAGATGCTGGCAAGATTGTGTAGAAAAAGGCATGCTTATACACTGATAGTGGGAATATAAACTAGTTCAGCCACTGTGGAAAGTAGGGTAGCAGTTTTCCAGAGAGCTTAAAACAGAATTACTCTTCCACCCGGAAATCCCATTATTGGGTATATACCCAAAGGAATATAAATCATTCTGTTAATACCATAAGGACACACATATGTATATGTTCATCATAGCACTACTCATAAGAGCAAAGACATGGAATCAACCTAAATGCCCGTCAATGGTAGACTGGATACAGAAAATGTGGTACATATACACCATGGAATACTACACAGGCAGAGAAAAAGAATGAGATCATGTCCTTTGCGGCTGCATGGATGGATCTGGAGGCCATTATTCTATGTGAACTAACAGAGGAAGAGACAATAAAGTACTTCATGTTCTGAGTTATAAGTGGGAGTTAAACATTGAGCACACATGGACACAAACAGGGGAACAACAGACACCTGGGCCTGCTTGAGGATGTATGGTGGGAAGAGAGAGGAGGTAAAGAAACTAGTTATCAGGTACTATGCTTATTAAATGGGTGATGAAATAATGTATTTAGCAAACCCCTGTGTCACACAATTTACCTATATAACATACCTGCACATATACCACTGAATCTAAAATAATTGTTTAAAAAATTATACATTCTGTGCTATCCTGTTATAGCAGCACAAAATAAATGAAGACAACTGGAAACCCTAAGCTAAGGAAAGCTTCTCTTGCTGGTCATAGACTTCAAGGTCAAAATAGTTACCAGATAAAAAGGGGGTGAGCACATATTGATGAAAATTACAATTTTCCAGGAAGATAAAGTAATTATAATGTTTAAGCTTATATGGGCACATATTAACATTTATTCAGCATATATAAAGCAAAAATGTACAGGCTACAATGAAATTGTAACAAATCTACCATTATAGTAAGAAATTTAAACAGACCTATCTCAGGTATTGACATGAAAAGCAGATCAAAACTAGCAATGTTATAGAAATTGTAAACACAATGAACATGAATGTCCTAATAAACATATTAAGAACATTTATCCAATTATTGGATAATTCTGGATAATTCTTTTTGACATGCAAGGAACATTTTCACAAATTTATCACATACTAGGCCAAAAAGTCTTTAAATATTTCCAAAAGTACCACAGACTACCTTCTCTCACAAGAAGGAAAATAATGTAGCTATTAGTAATAAAAGGAAAATTAAGACAATTTCATACATTTGACAGTTTAAAAGCAAACTTCTAAATACCTCCTAGGTCAAAGAATACTTTATAATAGAAAGTAAAAAAATACTTAGAACTAAATGATAATGAGAATATAAGATAAGTTACGTGGGCTGCAGTTAGAGTACCAGAAAACTTCAGTGCCCTACAACTACTAAAGAAGTCAAATCAATATTTTAAAAGCCTCCTCATAAATAGAACACCAAATACAAATAGTTCTATAAGAAAATATAACAAATGTTATCATCAAATTTTAATTGTATATAAACTTTTTCATAGGTATAACAAAGAGGAAACTTTCCTTAACTCTTTTAAAGCAGTCATTTTTAGCCTTGATAGCTAATGCAGATATGAGTATAAAAAAGGGGGAACTTTCCAAACAATTAGATGCAAAAATCTTAAACTATTTAGAAACCTGATTACAACTTTGTATTTTAAAAAAGACATTATGACCAAGGCACATCAATTCCAGGAATAGAATATATCCTTATGATCTTTATATCTTCCAGCTTCCATCATTTGTGTAGAAAATTCAGTTATTAGTCTTTTATTGCTATTATGAAAGCAATGTTGTTTTTTTTTGGGTGCTTTAAGTAATTGGTCCTTGTCCTTGGCTTTCAGGAGTTCACTATGAGCCAAAATGGGATTTATTTTGCATGTATCTTTTCTAGTTTCTTCAGAATTTCTTGATTTTGTGGGTTAGTTTTAGAAAGTTTTTGGTTATTATCTCTTCAAATATTCCTTCTTCCCCTATTCCTTGTCTCCATTCTTTCTGATACTTCAATTACATGCATGTTACACATTTTTAAAACTATGTCATATATATTTTATGCTCTTTTTTGCATTTATCTTTTCTTTTTTTGTGTGCTTCAGTTAGCATATTTACTCCTGGGAGGGGAATACCTGAAGGCTTGTGCCTTATTTCTCCTGAACTTCACCCCATGTGCCTTTTCTCTTTGTTTATTGTTATCTGTGTCTTTTTGTTATAATAAACTGTGACCATCAATATAACCACTTCTAAGTCCTGAGAGTCCTTCTAGTGGGTCATCAAGCTTGAGGAGGTTCTCAGAGACTCCCAACATGACAACACTTACAAAAGCAACAAAACTAAAAAGTATCCTAGAATATATCTAAAAAAAGATGTGTGATACCTCTAGATAAAAAATCATGAACTTTTCATAAAAACATTAAACAATAATAAAGATATTTCTTTATCTTTATTTTGCAGATAAAATAACACAGATATTTCACATTCATGGATAAGAAAACTCAGTCCTAACAATGTCAAACTGAAAAGTTTTTTATGGAAATTTTTATCAAAATCCTAGCAGAATTTTAAATAAACTTCATGATTCTGAGTTTCATATGGAAAAATAAAGGGCTGAGAATAGAATATCCGAAAGGATTAATATGTTGGGGGAATTTGGCACACCAAATATCAAGAGTTATTATAATCCAATAGCAATTAAGGTGGGAAGATACTGATGCGAGGAAGGATAAATTGTTTAATGGAGCAAGAATTGAGGACTCACATGTATATGGAAGATAATTCTAATTTGATTAATAATTTAAATGTAAAAGTCAAAACTTCAAAACTTTTAAAAGAAAATATTAGAATGTTTGTAGAGAAGGGTTTCTAAATAAACATCTAAAACATAAGAAAATGTTGATAAGTCTACTTCATGAAAATGAAAAACTTCTGTTCATCACAGTATAGCAAGAGAGTAACAATGTGAACCATAATGCCACACCTATGATTAATAAAGAACCGGTTTCCAGAATGCATAAACAACCACTAGAACTATGTAAAATCGGTTAGAAGATAGCCATCCCAATAGATGAAATGGGCAACAAAAGAATAGACATTTCACAATGAACATATGAATTTATGACCAATCTCATTATTAACCAGAGAAATGCATAAGACAGTGAGATACCATTTCATAACAATGAAAAAATTAAATTACCTAAAATAAGATGTTCTAGAGAAGATGTAGATCAATAGGAACACATTTTTGGTGGAAGAGTAAATTGGAAAGCCACTCTGGAGAACAGTTTCATGATAATGTGTCAAGTTGAACATTTGAATACTCTGAGACTCAACAATTCCACGATTAGGTATATAGCCTATAGAATCCTTGTACCCATGTACCAGGAGTCATATATGAGTCTTCCTTGCCAGACTGTGCATAATAATGAAAATTTGGATCAATGTAAATATTCATTGATTGGAAAATAGATATATAACTAGAGTTATAACTTGCAGTATCACATGATGGAATATCACAGAGCTATATCCACCAACATGGATGATTCTTAGAAAGCTAATTTTGCGTGGAAAAAGGTTACATCCATGGTGACTACAAACAAATATAATAAAGCTCAAAACAAGCGAAATGAAACCATCTATTGTTTAGGCATAAATACACAAATGGATAAGCATTTCTAAAGGAAAGAATTGATAAACACAAAATATGCAATGATTGTTACCCCAGGTAAAGGGAGAAAAACGCATCTGGACACAAATACACAAGATCACCATTAAGGTTCTTTTCCTTTTGCTGGTTGGAAAATACGTAAGTGTTTGTTTTAACGTTATGTTCTAAATTGTACATGTGTTTTTATATATACTCTTTTTTTAGTAGGATATATTTAAAATAAATGAAGCAAAGTATTTTCATAACAACAATTAAAACGATTAAATGTAGCTAGTTTTTACAATAATGAACAAATCTCCAGAACAAATAACTACATTATGAATTAGGGAAATGTCTATGTTTCTATTGTCTCATTTATTTTGTACCATTATGATATTCTGACTTATTTTTTTAAGTTTTATTTTTAATTTCTGTTTCTCCAATTCACCAATCCTTTCATGTTCTGACACTTATAATTATGGCCTAAGATGTATTTCGTTTACAAACTATTATTCTTCCAGATAGAAATATATGTGCAAATTGCCTTCCAAATTACTATTCAGACATTTTTCATAATCTGTTCACTAACTTTGAAGCTTGCATTATTTAAATGCCTTAAGCCAAAGACTTTTTTTTGGCAAAGTCTTTTATAACAAAAGATAGCTTTATCAAGCAAAACAATTACAAGGATCCAAGGCTCAAAGACATAACCAGATAAGTCTGTTGATGTCATTGCCTGGCGCCCCCCGCAAGTGGCAACGGACTTCACAAATGAGATAGTGGGTGGTTCCTAAGCACTATTTCCAAACTCCCTCCCACATGACAGGATTTAGTTATTTGCCGAGGAAGATATGCAGTAAAATATTAAAGTCACATGGGGCCAGGTGCGGTGGCTCATTCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGTAGGCAGATCACTGAAGGTTAGAAATTTGAGACGAGCCTGGCTAACATGGTGAAAACCCATTTCTACTAAAAATACAAAATTAACCACGTGTGGTGGCAGGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAAAGTCACATGGATACATTCATTTTTTTTAGAACACATACACATATCTAAGCTGACTCAGTGACTTCCCTCTTTGCTACATAAGACAGGAAAAAATTTTAGGTAATACTCACAATAAGATCTCTTTGTGATTTGATGTTTCGCAAAAGATTCAGGGAAGGAAGCTATTATAAGAAGTTTTGTCTGAAGAGTGGTCACTGGGAGGCTCTGCAATTCACCAAGAACACCTGCTTCAGTGACCCTGATTCAATTTACTCACTGGCTCTCTAACTAGAAACAGATGCTGAGATTGCAGGAGTCACGCAGCAGATGCACTCACTACTACTCTTAAGCTTTCTGAAAGAACAAGAGTTCAGACACTTGTCCTTCTTTGAATTACTGTCTTGTTTGGCATAATAATTATTTAGCAAAATCATCAGGGTAGTATAATATCCTAATATTTGGCTATTCGGCAAGATACATGGCAGTGTGCCAGGGATATAAAAACCCACAGAATAAACATAGCACATTATCCAGGAGTTTTAACTTCATGCCAAAATTTGGAGGTAAATATTTTCATAATTTAATCTGAAAGACATTTAAATTATTTTTGCAGTAAAACAAATACATTGTGGAAGGGTAGTCACAATTTGCATGCTTTTTAAAAGTGAACATTTCAGGTTTTAAACAAATTTCACATTTTTATCCAATCCCCTTGGTGATGTGTTTCTAGAACCCTTAAGACATCTTTTATGGTTACTTCTTGGGCTTTGATGGAAGAAGTTCAAGACTTGCTTCCCTAAATTATTCCAGGATTAGAAGAGACTAGAATTTTCTCAGGGATGTATCTGTCTCAGAACATAAAGGGAAGGGCCAGAGCACCCCAGAGGGTTGACCCTAATGGAGATCAACTTGCTACTTACTGTAAAATAAGTGTTAGGTTCTTTCTTTTTCTTCACTAGTAATCATTTCACTTCCAAAAGGCTGTGCACCTTTGCTGATGAAAAATTAGCAGGAGTTCAGAGAGAAGCCTTTTACTTGAGTGGGCATGGAGAAAAGGAAGTCTTTTTTATTCATTGAGGTCATGACATTAACAGCTCTTCTTAGCAACTGCATCATTCCACAGAGAAGTGGGCCTTTGAGAAGCGGGCAAGGCAATCAGTGAAATATTCTGTGTGGAGAGAGGGGTGGTTGGTTTCAATAGAGTAGAGATAAGGAAAGAGTTTATTTGGGAGAACCAAAGGTTATCACATGGCAGAGAATAGGGAGATATGGTCAGTAATTGGTCAGTGTCAGGAACAGGTGACAAAGACGAATTGCAACCAACTATAGACCAATGGATAGAGAAGACTGGCATACTGAAAGAGGAGAACTAGCAAATTACTCAGGGCAAATAAAAATGGTTTGGGGCCAATGTTGAAGTAGTGTTGCCTGTGTCTCAGTTTCCTCATCTATAAAAATGAATAATACCACCTTTCAGGACCAGGGCCATGTGGGTTTAAAGAGTTAATTCAAGTTATCTGAGACAGTGTCTGGTATCAAGGAGACACTCCATTAATGGCAGTGACTCTTATCATTATTGCTATTTACTTGTATCAAACCAATGTAGACCTCTATGTGGCAAAATAAACCCAAGTATTTACTGATTCATGCAGTCAAAAGTGTGGAAATTCAACATTCAATAAGACACTACCTGTGAGCCACTAGCGTGCTCTGTATAAAATCCTCTGCGGTAGGGACCAGTTTACCAAGTCTTGCACGGCATAGTCTGCAGCCACAAACACAAAAACCAGAAGAAGGTTTCTTCTCCTTTCTTCTTCTTACCTGCTCAGTCTGTAAGAGACTTCCAGCAATCACCCCTACTCACCCCTAGGGCATTATATATATTATTCCTCATAATTTCCAAATACCTAACAATGATTTTATCTACAACAAAGTCTCCTATTTACTAAGTTACCTACCCATTAACTATACAGCCTTGTAATCTCCTTGCCGAGCTGAAGGGCTGCTGCATTTCTAATGGCTCACACCTGCTTTGCATTTGTTTCCAGTTTCAGATCATGTCACTCTTTCGATATTTTCCTCCAGTCACAAGGATGGCTTTCTAAGCCCAGATTTGTGAGCAAAATGTTCTTAGGCCAGTACTTCTTGAACTATAATGTGCATAATAATTACATGGAGATCTAGTTAAAATGCAAATTGTGATGCAATAGATCTAGAGTAGGGCCTGCAAGTCTGCAGTTCTAACAAGCTCTGTGGGGATGTTGATACTGCTGGTCCTCAGATGACAGTTTGAAGGGCGAGGCCCTATACTATAAGGAAGCAGGGTGCACTGTGACTGCTTACTCACTTTTTGCATTTTACAACATCAGGGAGCAGCTCAGCAAAGCGCCTCCATTGGTCCCCCAAAAGAGTCCTAGCTAGTTGTAATGTTTAATGAGTATTTAAAGACCCCAAAGTCCCCGCAAACTCATGCTGCAGTGGTTTCTGGATGCACACTGGGTCGGTTAAATCAGTGTGTATGAGGATTTTGCTAATTGCTGAGGTCAGCTCTCATACCTGTTTACAGGGAAAATGGCATGTATATTTTATAAAAGCACATTGAATTATGTATCTGCAATTACAAAAGATTAAAGAGAAAGTCAACTCCAAAGAAAATTGTTTGTTAGCTGCTAAGAATTTAGTTGACTCCTATCCTCATTCTTCATCTCTTTTATCTTTCTGGAAAACTTGCCCAGCCAACCACAAAATGACCCTGTGATAATCAGCTCTCAACAGGGCAGGGAGACAAGCATTCCCCTCTGTACAAAATACCTTTGTTGCAAAGGTATTTATTTGAAATCTGTCTTTGCTGTTTTCACGTCAACCCTGAAGTTATCTTCCAGAAGAGTGTATGTACATTTTAATCAGCATTATCTCAAGAGGAAATGCTGTACTCTAATTAATGGTTCAAGCAATTGTGCTAAGCATAACAATTGCTTGACAGTCATAGCTTGTGTTAACTGTATAATTGCTGTTTGTGCCTTGCTTATTCAAAAGTCATATTATTATTATCTCCAGATAGTCAGCATTTACTTCCAGCATTCAGAGCATAAGCAAAGTGGTGCCATACAAGTCAGCACTATTTTTTAATATGCTGCATTGCAGCATCTCAACTACCAGTGTAGGGAGGGCGTGGTCATGCCTGCTTGGTGTTTGCTCTGTGTAACAGAGATTAAGATGATGACAGGTTTCATTTTGTGATGCTTTAGAGAATTGTAACATATTAAAGGAAAAACATGGAGTGGCCAATATATTCTGTAAGACACAAGATTTGCCCTATCTCCATTCTTATTCTCTTTATATTTCAGCCTCACCTGAGATAAACTACCTATAGCGTCTACTGAATATACATGCAGAAAGAATATTGAAACATAAAACATCAGAAGGAAATATCACTTTCCAGTGTTGTACTCAGCCCTATTGGAACTTGAGGCAAAAGGTTATTCAGTAACACTGACACTGTCTTTAAAATTGTGACTCCTTCCTCCCTTCCTTCCTTCCGCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCTCTCTCTTTCTTTCCTTCTTTCTTTTTTCTTTCTCTTTCTTTCTTTTTCTTTCTCTTTCTTTCTTCTTTCTTCCTTTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTCCCTTTCTTTCTTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTGACACACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACCTGATTTCAGCTCACTGCAAGCTCCGCCTCTCAGGTTCAAGCCATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTAATTTTTGTATATTTATTAAATATGGGGGTTTTGCCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTAAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCAAGCACGCCTAGCCTGTGATATTCTTCTATGGATTTTGGTTTTTTAAAAATCACATTAAAATATTGTCTTGATCATTGAGTTTTTCCCCCTTAAATTTTGTGCTCAAGATGAGTGCCTCACCTGATTCTTGGCCTTGTCATGAGAGAGGTGATAATCTATTTAACAGCCAAGAAAAGAAGACTTCTGAAGAAAAGGCTGAGTTAATGTCACTATGTATTGGGAAAAAAGAGAAAAACCGACAGGTTGGGTTTCCATGAGTTGGAAATCAAAGCTAATAGGATGTGGATGTTTGTGCTGATTCTTGCAGCTGCAGTGAGCAGAGGAAATGTTCTGAGCACTTTCTCAAAAGGTTCTTCAGTATTTTAACTTAAAATCATCTTACAAAAGAAAAGCCTTTGTTGTGTTTATTTGGGGTCTATTTCATTTAATAGGTCTTCTGTATAGTGATTTGTAACTTTTATCAAAGTTGAACTTTTAATGCACATGTTACTTTCAGACCAAAGTCTTTATCCTGGAAGATGTAGCCTCTTTTTTCATTTTTATCTTGAAATGCCCCTTGGCACAAGCTTAGTTAGGAAGTTGAGTTCAGTGGAGAAAGGACGTATAGTTGATATTATACTGGTAAGCCAAGCTCTAAGTTCACCAAGTCTGTTTTTTTCATGTTAAATTGCAGGAGTAGTATTTGCCACATATACCTTATTGGATTGTTTTCAAAGTAATGCACAGGAAGTTGCTTTGTAAAAAATGACCACCATATTCATTATTATGAGTTGACTATGAATTTACTAAAGAGTACCTAGAAAGCGCTCATCTAGATTAGTCTATATGTAGTAAATTGTAATTAAGGAATACATACAGTTGCAATAAATGTGTATGATTTTATGTACCATCTCTCACTATCTTCTAGTATAGCTAATTCATATCTGGCATCAGTTTAGTGACCAAGACACCCTCTCCCTTTGCTTGGATTATTGCAATGCCTTCCTGCCTGGTCTGCCTGGATCCACCCTTGATATAAACAGCCCCAGCCACTCACCCCCAACCCCACTCCTGCTTACATATATTCTCAACCTAGCCACCAAATTATTTTTTTAATATAAGTCAAGTCATATTACTCTTCTGCCCAACCACCCCCAATGGTTTTCCTTCTCACTAACCATAAAAACCAAACGTCTTATAATGGGCTCTAAGACCCTTCAGAATTTTGCCTTCATCACGTCTCCATATTTATCTTCCATCATTGACTTGTTTCCTACATTCCTGCCACATCGGACTCTTCATTATTTCTTGTCCTGGCCTCCCCTTGAGCAAATTAAATTCTCAAAGCTTCAGCTTCCTTATCTGTAAAATAGGCATAAAAATAGTAATAACTATAGAGGACTTTTTTTTTCAGGATTAAATTAGTTAAAATGCTTAGAACAATATTTATACCTAGTGTTAAAATGTCAATATTATATTATCATAAGTTTTATTACCCTCATCTGATTTTTTGTAAAGTCTCTAATGATTTGACTCCTGAATTGACAATAATCTCTGAAAACTGTCAGAGGCGTTTGAACCAGAGCAACTCCATCTTGAATAGAAGCTGGTTAAATATGGTTGAAACCTACTGGGTTGCATTCCCAGATGGTTAAGGCATTCTAAGTCACAGGATGAGATAGGAGGTCGGCACAAGATAAAGGTCATAAAGACCTTGCTGATAAAACAGATTGCAGTAAAGGAGATGGCTAAAACCCACCAAAACCAAGATGGCAATGAAAGTGTCCTCTGGTCGTCCTCACTGCTACACTCCCACCAGCGTCATGACAGTTTACAAATGCCATGGCAAGTTACCCTATATGGCCTAAAAAGGGAGGGCATCAATAATCCATCCCTTGTTTAGCATATCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCCGTCGTGGATGCAGTCTATGGAGTAGCCATTCTTTTATTTCTTTACTTTCTTAAGAAACTTGCTTTCACTTTACTCTATGGACTCGCCCTGAACTCTTTCTTGTGAGAGATCCAAGAACCTTCTCTTGGGGTCTGGATCCTGGATTGGGACCCCTTTCCTGTAGCTGAACGGTCACATTACTTTGTTGCTTATTCATATGTTTAAGCATCTTTAAGATCCTCACTGCAGCGAAATAAAGCTCAGAACTTCAAACACTATAAGTATTCCCAGGCCCTTGCTGCTATGTCTTAGATATTTACAGCTTCCCCTGAATTCTTTTTTCTTTATCCTTTGTTTTGGGGAAGGTTGTTTTATGTTTTTCTATTCTCACTTATATTATTTCTCTCCATTTCAGTTTAATATTATTTTTCATTTTTCCTTAATATTCATAATTCAGTTTTCCCCCACACTTGGCACCCTACCCTCTACCCTCTGTCTTCAATTCTTTCCACAATTTTCGCTCCTTCCCTTTTTGCTGTCTCAAGTGAGAACATAGGCACATTTATTTAACCCCACTGGAAATCCTGTGTTTTTGTAGGAAAAGACTTGCTTTCTTGGCAGTGCTAAAAATAAAGTAATTACTGAAGGAATGCATGATGGGGCCAGTTAGTAACCTGATAAATGGAACTTGGATACAAAGCAGAGATGAATAAAAAGACTCACCTGGTCCAGGATACTGGCTTAAAATGAGCCCTGCAGCAAGGCTGACTTGATTATGAGCTCCAAACCAGGAGGCTTTTCTTTCCTCAGTCTAGGAGGCAGGAGTAAGCCTGACAGTGGCAAGAAAGTATCCTCAAGAGTGGGCTAGGGAGGGATGGGGTAAGTTGTGCTGGTAAGGACACCGTGGGAGCAGTGAGCCAGTACATTCCATTCTTACATTTTTTGGCTTTAAAAAACGGAAGGACAGAGCTATATTACTCCATTTCTATTTTGTGAAAAAGTGTAAGCTTAATAATTTTAAAACTCAAGGCTACGTTTGATTTTTCCAAAGCACAATTAAATAAAAAATAGCTCCCTCAGTGGCTCATACCTATAAGAAGCCAAATGGTTTGGATAAAAATACTATTCCCAAGTCACCAGCATCAGCCTGTATAAATAAAATTATTAGGACAGGCAAAGCAATTCAGAGGAAAGAGCATCGCTTGGGGGTAAAATGTTTAAAGAATACTGTGAATTTCACTGTCACAAATTCAAATAAAGTGAGAGTGGAATTCACAGTATTTAAGGAATCAATCCTTGCTGCTTCTGTTTATGAAGCCGAGCTTCAGTTTTCTTGCTCTGACAATGGACACAGTGATTACCTCAAGGGTTGCTGTAGGAGTTAGATGAGATATCTATAATGTAGGAAAGGTGTTTACTACAATGTAACTCATGGATAGGGGCCTATATTGGTTTTCCATTGCTGTGTAACAAATTTCCATAAACTTAGTGGCTTAAAACAACAGACATTTATTATCTTTCATTTCTGTCAGAGGTCCAGGCAACTGAGTGGTTGATATCTCTGTTCAGGGTCTCACGAGGCTGAAATCAAGGTGTCAGTTAGCTGCATTCCCCTCTAGAGACTTGACTAGGGAAGGATTCTTTTCCAAATTCCTTCAAGTTGTTGGTAGAAGTGTTTCTTGCTAGCTTCAATTAGGGATGGATCTCAGCAACTAGTGACCACTCTCAAGTCTTTATTATATGGCCCCTTTTATACTCAAAACCAGCAACAGAGAATTCCCCCTCACATCAAATCCCTCTCACACTTTCAATCTCTATGACTCAGAAACGGGCTCACCTGGCTAGGTCAGACCCACCAGAATATTCTCCATTTTGGCTAGCTCACAGTCGCCTGATGAGCAATGTAATCATAGCAGTGGTATCATACACACAGGTCTGCCTGCACTCAAAGGAGAGTGATTATCAAGGAATGCACACCAGGGGCGGCAGGAATCTGGCAGCTATCTTAGAATTCTGCCTGCCACCATTTCCATTAAGTGATTGTTGTTGTTTGTTACTGAGGCATAGATGAAGTAGCACTTATGCAGGAAAAAAACCACTAGTCAATCAGAATTTCAAGTTGTATGATGAGGTATTCCATAGAAATTAAACATGCGTATAACAGATTCTCATAGGTCAGGACACATGAAAAATTTAAGGAAAGGATGAGGACTCCTTAATTTAGAGGGACTTCTGAAAGGTGACTTAATGATGACCCAACACTATATGTGAAATCATGTTTGGCTTCAAAAGCACTGTGGGCAGAAAAGGAGAAAACGTTTAATCTAGAGTACACAGTTATGGCATTATCTGGAGGGAAGGATAAAGCTACAAAGATTGTTAAAACTAAAATTTGTTGCCAAGGGAGCCATTCGAGCTCTGTCTGGAGATCTTCTAAATGAGAGTAAATTATTCTGTACTTGAGGTGGTTTGGGCACTGTCCTCCCTGAAGCCAATGTAGAGATAAAGTGTTGTTTTCACTCCTTCTAGTCCTGTGATTCTGCGTCTAAGGAGGCAAACCACCTATTGAATCAGTGCTCACCACAGGCTCCATTGCAGCATTGAACTGTGTCTGTGAGAAAGAATAAGGTTAAGTCAGGATTCCTTGATTAAGACGAGTTAATATAAACACTGAAAATCCAGTGTGCTGCCAGCATAGCTTTTGGCAGCATCAACACAGAGAAGAAAGAGCTGTAACAGAATAACAGCAAAATAACTTCGGGTCCTTCCTTCTCCTCCACCCACAAAATCCCATTTGGTGATATGAGAATCTAAATTGCTCAGTGCTTGGATGTTTGGCTGTCACATGTCATTGTTGTGTTGAACCTTCCCAGGCATGTACAGAGCTCACTGCTCAGGAGATTAATGTTCAAAAGCCAAAATGCTTGACCAAACTTGAAATCTATTTGTGGAATTTACTGTTTCATCATTGAACCATGAAAAAATAAATTCAGCAAATATAGTCCTAATACTCCAGCTCATCATGAAATGTCTCTTAATTTCTTGACGTGTCCATGAGTTAGAGACAGCTGAGAAAGGTTTCATTATCTTTGTCTACTTACATACATTCTTTCTCATTTCTTTTTCTTTTTAAAATCTAAGGCTTTTTTTACTTGAGAAAGGAGTTGTTCCGATTACTGTCAGTTTCTCTGGCTGATGTGATTTTCTCATCAGAAGCCTTGAACCCTTCTCCTTTTAACTTGATAGCAAAGAGAAATCATGATAGCTTCTTTTGACATCACTTTACACAAAAACAAACAAAACAAAACAAAATTATCATAAACTGGTAGAACAAGAAGACAGCATGTAGGGAACAAAACAACCATGTTCTTGATTCTAATGAGGTACATGATTTACTCCTACCATGGAAAATTCAAATATCTACCCTTGAACTTCAACAAGCATTTATGACTTGTTGATCTACTTATAGAACTAAATGATTATTTTGCAAAACATCATCTCTGTCTTTAAGTACTCCCTACAGAAGAAAGAAATGGAACATTAGTGTAAACATGATGGTCACTAAGAACTTGTGGACACTGAAGAAAGGCTATGGATAAATGATCCAACAATAAGAGAAAGCTTCTGAGTATGCCTCAGACCAGTGACTGACTGGGTTTTCTGGGAATATATTTTTTGGACAATGGGTCCAGGAAGACAATAATAAATATTGGAAAAACTTCCTACAGTCTATAAAATCCCTTTTATTTAGATAATCTCACTGGGAGGAAGGTAAGGAGAGGGATATTTATTGAGAGTCCGTGACAGAGAGATACACTGTGAGGTACCTTTCAGGTTCCATCTCATTAATTTCTTAAATTGACTCTAAAGAGGAATGTTACCTCAATTTTATAGATGATCTCCAAAATCCTCAAAGCTTTTAAGTAACTTGTCACTCTGCATAAGAATTTGCCTCCAAACTTAGGGATTTTAAAGAACTTTGTTTTTCTTTTTTCTATGTCACCCAGAGTATTTGGTCAGGAAAAGAACTTGCAGTTCTCACTCATAGTCAATTTGTTGGTAGTAGCCACTGGGTCTTCAGTCCTTGGAAGTCTAGACTGGGCTGGACTTTCAAGATGGTTCACTTAATGACTGGCAGATGTGACTGGCTGTCAACTGGGACCTCTCAGGGGACTGTTGACCAGAATACCTACATGTAGCCTCTATAGCATGGTGGTCTTAAGATAGCCCTACTTCTTATATGATGGACAGCCTCTCCAGATAAAGTGTTGCACAAGATCAAGTAGAAATGACCTGACCCTTCTGAGCAGCATCAGGAATTACACAGCATCGCTTCCTCCATACTCTATCGGTTGAAGTAATTAGAAGCCCACCAAGACTTCAGGGAAAGGGACATAAAAGCTATCTTTTGATGAAAGGAATGTCAAAATATTTTGGGGCCATGTTTTAAAATTACCATACTTGCTCAAAATACAACAGCAAGTAAGTGTCCACTAAAATAAAATACAACTCATAATGTGTGATGGACTTTTTTAAAATTTGTAAATGGTGGAAATTGACATCAGTGAGATTAAGGCTAGAAGAACGTATACGTTTGTAAATCAAATCACAGGAAAGGGAAGATGAATATGGCTTTAGTCACGTGTGGTTCTAGGCACCACTGCAGAAGCTTTTTCCATCAACTGCATTTGATTCGCTCTGTATGTTGGCTGCATTTTATCTATTGTAGACCACTATTTTCATAATGCTCCAGCAACAGCAAATGTCATCTAAAGGAAGGAACTCCTGCTCCTTGGTTCAAATTTGACATACTGCAGAGAACAATTTTGATACCTAGTTTTTGTCACATACAATCACCTGTTCAGTCCTTATAGCAGATCCTATTTGAGTCACGTGGTTAGAACAATCCTCGGTATTATAGAAGATTCCAAGGTGAAAGGAATAGAAGGAAAAATGGGTAAAATATGGCCACTCTATAGAAATCAAGAGAATTTACAGTGAATAGTGAACTAACTACCATCTCTTTTTGCTAAGAAACGCTTTGGGACAATTTTGTAAATTTTACAAAGGAAGGAATTAGTCTTTATCTCTCAGCAAACCTTTTGTTGACCAGAGGATCCTTGGAAAACCAAATGAGGGGCTATGTGATTTATCTGATAATGAGCTAGAAATCAGAGCATATACACACATCTTCATTTATGTACCACTTTTCAAGTATATTCACATGATTATTTCATTTACACACAATAGCTAAGTGTTATAGGACAAGTTTTATCTTCATTTTATAGCTAAGAAATCTGAGACCCAGAAAGTTTAAGTGACTTAATCCCAGTTACATAGGGAATAAATAGCAGAGCTAGGACTTCAACTCAGATTCCTCCTCTTAGACCAGTATACTTTTCACCGCGCCACAGGTTCGCCTAATGTAAAACTTAAGTTTCATTGATGACATGATACATGGGTAAAGGTTTTCTCTACTGGAGGTTCCAACCACTTGACTATCTCATCTTAGAGTAGCTGCCTGACAAAGCATTTTGGCTTCTATAGAGTAAATTAAACATGCCCTTTTATGAATGAAATTCATAAAAGTAAATTTCCTTTGCCAAGATTATCCTTCTTAAACATGACATCCCCTTCCGTAGACACCACTTATGGTCTCCCATTACACACAAGCTATTTTTCCTGATGCTCTCCCTCCCCCAACCCCCTTCAACAGGCCCCAGTGTGTATTGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAGCTCCCACTTATAAGCAAGAACATGTGGTGTTTGGTTTTCTGTTCCTGAATTAGTTTGCTGAGGATAATGATTTCCAGCTCCATCCATATCCCTGCAAAGGACATAATCTTTTTCCTTTTTATGGCTGCATAGTATCACATGGTGTATATGTAACACATTTTCTTTATCAAGTCTATCATTGATGGGAATTTGGGTTGATTCCATGTCTTTTCTATTGTGAATAGTGCTGCAATGAACATATACATGCATGTATCTTTATAATAGAATGACTTATATTTCTTTGGGTATATACCCAGTAATGGTATTCTTGGGTCAAATGATATTTCTGGTTCTAGGTCTTTGAGGTGTCACCACACTGTCTTACACAGTGGTTGAACTAATTTACATTCCCACCAATGGTGTAAAAGCATACCTATCTCTCTGCAGCTTTGTCAGCATCTGTTTTTTCTTGACTTTTTAATAATTGCCATTATGACTGGCATGAGATGGTATCTCACTGTGGCTTTAATTTGCATTTATCTAATGATAAGTGATGTTGAGCTTTCTTTCATATGTGTGTTGGCCATATAAATGTCTTCTTTTGAGAAGTGTCTGTGCAGGTCTTTTGCCCCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCGTCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGCTAGCCAGGATGGTCTCGATCTCGTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTGCCCCACTTTTTAATGGGGCAACATACCAGAATCTCTGGGATGCAGCTAAAGCAGTATTAATAGGGAAATTTAGAGCATTAAATGCCCACATCAAAAAGCTAGAAAGATCTCAAATTAACATCTTAACGTCACAACTAAAATGACTAGAGAACCAAGAGCAAACAAACCCCAAAGCTAGCAGAAGACAGGAAATAACCAAGATCTGAGCTGAACTAAAGGAGATATTGATTAAAAATTCCTTCAAAAAATCTATGAATCCAGGAGCTGTTTTTTTTGAAAAAAATTAATAAAATAGACTTCTAGCTAGACTAATAAAGAAGAAAATAGTGAGAAATCACAGAGACACAATAAAAAAAGATAAAGGGGATATAACCACTGACCCCACAGAAATATAGACAACCATTTGAGAATACTATAAACAGCTCTACACAAATATACTAGAAAATCTAAAAGAAATGGGTAAATTCCTGAACACATACGCCCTCCCAAGACTGAACCGGGAAGAAGCTGAATCCTTGAATAGACCAATAATGAGTTCTGAAGTCAAGGTAGTAATGAATAGCCTACCACCCAAAAATGTTCAGGACCAGAGGGATTTACAGGTAAATTCCACCAGAAGTACAAAGAGGAGCTGGTAACAGTTCTTCTGAAACTATTCCCAACTGTAGAAAAGGAGGGACAATTCCCTAACTCATTTTATGAGGCCAGCATCATCCTAATACCAAAACCTGACAGTGATACAACAAAAAAAGAAAACCCCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAACACCGGGAAATCGCATCCAGCAGCACATCAAAAAGCTTATCCACCACAATCAAGTCGGTTTCATCCTCAGGATGCAAGATTGGTTCAACATATGCAAATCAATAAATGTAATTTATTACATAAACAGAACTAAAGACAAAAACCACATGTTTATCTCAATAGATGCAGAAAAGGCCTTCAATAAAATTCAACATCCTCTCATGTTAAAAACTCTCAATAAACTAGGTATTGAAGGAACATACCTCAAAATTTATTATTTTGCCATTTATGACAAACCCAAAGCCAATATTATAGTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAAACGGCACAGGACAAAGATGCCCTCTCTCACCACTCCTACTCAACATAGTATTGGAAGTTCTGGCCAGGGCAATCAGGCACGAGAAAAAAATAAAGGGTATTCAAATAGGAAGTAAGGAAGTCAAATTGCCTTTGTTTGCAGATGACATGATCCTATATCTAGAAAACTCTATCATCTCAGCCCAAAACCTTCTTAAGCTAATAAGCAACTTCAGCAAAGTCTCAGAAAATAAAATCAAAGTGCAAAAATCTCAAGCATTTCTATACACTAACAACAGACAAGCAAAGAGCTAAATCATAAATGAACTCCCATTCGCAATTGCTATAAAGAGAATAAAATACCTAGGAATACAGCTAACAAGGGAAGCGAAGGACCTCATCAAGGAGAATTGCAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAATATTCCATGCTCATGGATAGGAAGAATCAATACCATGAAAATGGCCATACTGCCCAAAGTAATTTACAGATTCAATGCTATTCCCATCAAACTACCATTGACATTCTTCACAGAAGTAGAAAAAACTATTTTAAAGTTCGTATGGTTTTTTTTTTAAAGTTCATAGGGAATAAAAAAGAGTCTGTATAGCCAAAACAATCCTAAGCAAAAAGAACAAATCTGGAGGTATCACGCTACCTGACTTCAAACTATGCTACAAAGCTACAGTAACCAAAACAGCATGGTACTAGTACAAAAACAGACACATAAACCAATGGAACAGAATAGAGACCTCAGACATAAGACCTCACATCTACAACTATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCTATTTAATATATTGTGCTGGGAGAACCAGCTAGCCATATGCAGAAAATCGGAACTGGACCCCTTTTTTACATCTTATACAAAAATTAACTAAAGATGGATTAAAGATCTAAATGTAAAACCTAAAACTATAAAAACCCCAGAAGAAAATCTAGACAACACCATTCAGGACATAGGCATGGGCAAAAATTTCATGACAAAAACATCAAAAGCAATTACAACAAAAGCAAAAATTGACAAATGGGATCTAATTAAATGAAACAACTTCTGCATAGCAAAAGAAACTATCATCAGAGTAAACAGACAACCTACAGAATGGGAGAAATTTTTTGCAAGCTATCCTTCTGACAGAGGTCTCATATCCAGAGTCTATAAGGAAATTAAATAAATTTACAAGTTTTCTTTTTTTTAATTTTTGCTTTTCTTTTTGTTTTTGTTTAATCCATGGGTGCTTATGAGAGTTTTGATTTGGTTAACATAAGCCAGACCGATTATCTTATAAACTAGGAAGTATGAAATGTTTCTCTTTTGGTATTCCAAATCTCCCTTCCTGTACTTACTTTCCTTCTCCTGTTACTGCAAGTTTATCCCTCCACTGAGAAGAAATTGCTTCAATAAAATTTGTGGTAGAAAAAGAGGATGATGATGATAGTACCTACTATTTAATCAGTGCTTACCATTTACATGTTATTTACTCAGTGCTTATTATGGGGCTAAGTTTGGCTTTAATGCATTATTTTGTTTAATCCTATCTACCCTATGAAATTGATACTGCTATTTTCCCCATTTTTTCAAATGGTAAACCTGGCACTCCCAGATTGAAAAAACCTGCAAAAAGTCCCACAGCTGGTTAGTGGTAGAACTGAAATTCAGTCCCTTATTTATTGGATTCCTAAATCTATTTCCTTTGTTATTCCAATAAACATAATAATGGACTACCAAATTAATTTATTACCTGCTTTTGCAATGCTTTCTTCTTAAAAGAGGAACATCTGTAGAAGCAGTGCTTAATAGAATATTAAGAATTAGAATTGGTGTGGTTCCTAGCGTAATAGGCTAGTACAGAAAATATTTTCAAGTTGCTGAGAAAAGGCTTCCCAGAATCTCCCAAATCACAAATCACACCACGTAGAGAAATATTCTCTGCTTTCTGTGACTGAAATGGGAATTAGGAGACCCAAATAATAGGACCAGTTATGCTATTACCTCTCTAGGCTTTAAGTCTGTAATCTGTAAAATGAGGAAGGAGGAAAAGATCATCTACAGGAATTGATCCAGGTTCAAACCCCCAATCTGTGAAAGATTGATTATATGTTGAAATGAGTATAATGAATGGATCTTAAGGTTATTTGGTAAACCTAAAATCTTAGCTTCTTCTCCTTTCTAAACTCCAGTTTCTTGGGCCTCATATAAGTCTTCTTTGAGGTGAAAGATATCCTGTAAAACACAGTGTAGTCAATTTTTCAGTGAATGTCATTACAACATTACAGCCTTGATGCTAATTCATCTCCTAACCTACTTTCCCAGGACTTGGTAGTAAAGACTTAATGCTGTTTTCAGCCCTTTTCATCTTCAAAGCTCTTACTAAAATGTCTAATTAATCTTCCAAATGTCACTAAGGTAGGCACAATCCAGTGCTGCCACTCCTCTCGGATTCTCTTCATCTTTTCTTGTCAATTGTGGAATTATGGCATTAGAGGAGACCTGGAAGGCTGTTTGGTTGAAAATCATATCTGATGCTTGATTTCCACATTCTTGCCAAGTGTTTATTCAGTGTAAGGGATAATTTGGGGGTGTTCTTTCAGCCCAAGGGCTGAGAATTGCTCACTTTATCTAGAAATCATCCCACCTAAGCAGAACTCCCAGGCAGCTAGGTGAATACAACATGACTCCCCATCCAACTGCTGTTGATTGAACACCTGCAGCAAACTGAGCCAATCAGAGTGCACTCCTCCATAACAGAGAATTGGAATGAAGCTACCACAGTCTCAGTCTAGACTATTTCTTGTGACACAATTAATAACCTTGGAAGTGCTGGTACATCAACCTTCTTTTATGTAAGCTGATCAGCAAATATAGAAGTATTAAGCAGATGTCCAACAAAGAACAGAGATCCAATATGGAGAAAAGAGGTCCCTCTGAATTTCCAATCACTTTCAGCTTACTGGTTACAATCTCTGGCTGAACCTCTGCATTTATGTCAAATTAGCATCCTCACTAATACTTCCAGCCTATTGTGGAACAAGTCCAGTAATAAACAATTAGCTAAACATATATCCATTTATATATACACATATGTACATATATACATATGTATATACAAAATATATATGTATATGTGTGTATATAGTTTAAAATCATATATAATGTCATATCTTAAAATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATAAAATCTTACAACTCCCTATTCTTTTCTTTCCTTCTGGGACTCTTCAGGCCGAAAGAACAACATAGAATCATAGGAGTCATGATTTTTCTCCTTCCTAGAAATGAGAGGTTTGAAGAAGAGATAAGGGGGAAATAGCTGAGTATTTTTCTCTACTATTGCTGGCTTCCTTTGAATCTATTTCTTTCTGATAGCGTGCTTTTTTTTGCTTTATTTTCAGGATGACTACATTATAGTCATCCCCTGCGTTATTGTAATGGGAATGGTAACTACATAAACCCACAGCCTAGTTGATTTGCAAGTATCCATATAAGTAGGAAGAATAAAAATTTTAGAATAGCAATGAATGCTAATATTTTCTCATGTTTCCAGATTTATGATTTGACCTTTCTACGCAACTGAAACAATTATTTAGATTTTTAAATTGCAACAAACCATGTCTTAAAATCATGGACTGTCAGCCTAAATCAAAAGAACGTTACTTAAACTGTATGTCACTGTAAATAACCCCTTTCCGAGTCCCCTGCCTGATGTGATTCAAAAAAGACTGTCAATAAAGTGTAAAGAGTGAGTTTTCAATTAGTAGCAATGACACCTTCATAGAGCCTGGAAATTGAGTACTTAACCCATGGTTAGGTTTTGAAATGTCCTTTTTCCTGACATGAAGTGAATTGTTGTCTCCTCTATATCTGCTCTGCCATCTCTACCCCAATCTTTTCTCTGAGTGTAGCCTAAGAGGCCACTTCCCTGAGTGTAGCCAGGTCTGGGTGGTAGCCAGTTCTGAGTGGTGTCAGTGTAGGAAAGGACTGAAGAGCACGTGGGTAAAAGATGTCACGAAAGGCAGGGATGAGTGGAAGGGAGCTCTAAAGAATAAAGGCCTCTGGCATCAAACTGCAATTCAAACCTCTGTCATGGTTCTGCCTTACCCTAGAGCACCAGGGTAGGGATCAGAGTTCTCTCTGCCTACCCCTGTTCTTCCAAGGCTGTCTAAAATATGTCACCTTGTACTGCATTGGGCAGTAGAGAGATGAGCCCATTCAGTGTGAATAAGAAAGTTCTTCTTAAGAAGACGAGGGATCAGAAATTCACTTTCGATGTCCCACTCAGAATAAATACACTTCCTAGCTGATCTTGGCATTATGCATTTCATTTACTCACTCAGCTTATCAGAAACTGTTTTTCTTTTGTTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGGCGATCTCTGCTCACTGCAAGTTCTGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGTACACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTATCCAGGGTGGTCTCAATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCGCCCGGCCATATTTTTTTTTTTAATTGAGCTCCTACTTTGGGATTTACTGGCTAACTATTTATACAGCTGTCTCTACAGTGGTTCTTAAGTTGTGGCTCCTGCATGTCTTAGTCTGTTTGGGCTGCTATAACAAAATACCTTAGACTGGGTCATTTATAAAAAATAGAAACTTAATTTCTCACAGTTCTGGAAGCTGGAAAGTTCAAGATCAGGATACCAACAGATTCAGTGTCTGGTGGAGGCTCACTCTCTGCTTCACAGATGGTACTTCGTTCTGAGTCTTCACACATCAGAAGGGGCAAGGCAGCTTCCTTCAACTTCTTTTATAAGAGCACCAATCCCATTCACGAGGTCTCTGCCCTACTGACTTAAGCACCTCCTAAAGGCCCCATGTCTTAAAACTATTGTTGGGGGTTAGGTTTCAACATATGAATGTGGAGGGGCACCAACATTCAGACCATAGCACTGCATCAGCAACAGCCTTATTGCCTAGAACTTGTTAGCAATGCAAATTCTTAGGCCCCATCTCATTTTCAATAAATCAAAATTCTAGATTTGGGGTTGAGCTCTTGTCTTTTCACAAGCTTTCCAGGTGACTCTGGTGTACACTAAAGTTGTAGAACCATTGCCCTAGAGGCCATAACTTAAGATAGAAAGTCCATTTAAGCCAATACCTTGAAATTATACTCTTCCCCTTCAGCAGTGCAGTAATGAACTAGGTTGGAACTTAAGGCAAAAGTTAAAATCAATAAATTGATTTTGTCTTTATTTAAAGTTTAGATATCTTGTTCATCATATCTTTTTTTTTGCCTTACTTTTGACTTTCAAAAATATTTGTCAGGATTCCTGAGTGTTTTGGTGACCACTTAAATTTAGCACCAGAGATGAGTGCTTCACTCACTGCACCCCCGCCCTGTAGGGAGCCATTCACATCAGGAAGAGAGAACAGACATTCAGAGCAGTCAGCTTCGTATCACCTTGGATTCTGCAGACCAGCAGGACAGTCATTCTGAATGTGGGTTGGGAGGACTCACGCCTCAGCTGTAAACAAACTTCAGCTTGCCCTCTGCTGTGGATGGTCAGGGTAGAATTGCAGGGTCAAAAGATATTTTTTCTGTTTCAGGGATGTAAGCAATAATTTCCAGAGTGGCTGTAGCATCCCTCAGCCCTCCTTTCTTTTGAACGCAATTTAAACCAGAGATGACTACTAATTTATTTATTTCCGAGGGAAGCCATGTTAATCAGGATGAACTAACTTGATTTAATGTGAGTGTCATGTTTACCCGTAGTTACTTTCCATTTTATTCTGCAGTCACGGCTGATTAATCACCAAATTGTGACAAGAGGGAAGTAATTCACACTGCAAGCCTGGTGCTTGTCTCCACCTTCAGTTTCATCTGCAAAAGGGCAGAGTTGCCAAGGGTTAAGGCCTGACACCCGAGTGCTCAATAAACCAACGAACTTCCCTCCTTCTTTTCATTCCTCTTTCATTCCAAACTGCAGGAACAAAGGGAAGAATATAAAAGCCATGCCCATAAAAATGGTAATTTAATTAAATGAACTAAAATGACTCCTTTTCAATAAGTTTTTATTTTGGAATAGAGGCAAGTGGTCAGTCCCTTCTATACCCAGCTAATCTCCTTTGCAGGCACTGAAGACGTTAAACCTACTGGCCTGTTCTGGAATGAATTCTGATCCAGGCTAGGCGCATGTTAGTAGGATCTGGCTCACCAGCTGGTGGCGTAGTAAATACTGTGGTGCTCCCCCAAGATCTCCTCTTTAGATCTCATTCACCCAGTCCCTGACTTCTGGGACTATCAGCTATTGATGGCTCACAGCTGCATTCCTCATTGGATTCACCCTCAGTCTCTGGGATTGGCCTTGCCCAAAGTTACACCCCCTGGCAAAGGTGGCTCACAGCCAGTATGCTGAGGTAGGGAGAAAAAGGCCCAGCCTCCTTGGGACTCAATTTGAGACACAGCGAAGGACATTTCAGCTCCAAAATTCTCCATAGGATTAGCTGAGGCCTCAGTTATAAATCAGTTTCTCTTTTACCCAATCCTGCCCTCCTCTCTTCCTTTAAATTATATCTCTGAGAGCCCACTCCTTCACCCCAACACTATTCATTTGGTATCTCTCGCCAGAGAACCAATGTAACTATCAGAAGTGGTTCTAGTAAGCAGCCTCTAAATGGGCTTCTGGAGACAGATCATTCATTGGCTGGCTGGCAATGAGGATCTCATCACTAGTGGGGATGGGATGGAGAACAAATGGCCCCAGGGATGCTGTGGCAGTGTAGTTAAAACTCTCACTGGTGGCGAACTTGAACAAAATTTTGGTGGAAGAAAATGAACTGGCTGATGCAATTTTTATAGTGCTAGAGACATGTGAAGGAAATGACACCCATAAGAACCATGGGATTGGGTGGTTGATGCTGAGTACCAATGACTCATTGAAGAGATATAATAACAGGCTCTGGGTGGTAAGTCATCAATTCATGACGAAATGTGCAGGCATGAGATAACTCTTTGGCGGTACTTAAGGTATCTCCTGTGGCTGGAAGATCAGACTCAAGATCAGGCTCAGGCTTTAGATCCACTTAGTAGTGGAACTTAAGAGAAGATTAAATTCTCTAACACAGCCGGCTTTCTAGGCCCAAGTTCTACTAGGGAAAGAGTGAGACACTGCAAAATGGGATAGGGATAGGTATAGGTAGATGCATTTGAGAACCTTGAACTCTCAGATTCTCCTGAGTGCACTGGACATATAGAAATGACCCACTCACACTTGTTAGAAGATAGTGGCCCCTTCTTTATTTAAAGATAATGCAGAGGCCTCCAATTAGGTAGATGCTATACAAGATAAGCTTCAGTTATGCTTTCCTGGAAACCAGACCAATAAAAAGGAAGGGTCAAATCCCAGCAAAGTCCATTGGGCCATGTGTTGGGCCTGCTAGGGGAAGATAAGACTATACGTTGAAGGGGCTGTAGAATTTGACCAGTACTTCCTGGCAGGAACTGGAAATATTGTAGAGAACTAGATCTTGAGGGTTGTAGGTCAAGCGAGATGGAATATAGGGTTGGATAAGAGAGAGTTTATTGATATGAGTGTACTCTCCTATAGTATTAAAGGACTTAACACCCTAGAAAGGCCCTTAGAGGTGGTGCTAACAGTGGTTAGAGTGGCTCTTGAAAGCTTAGAAAGAGTGATGGCACACACTAAGTGAAGTGAAAATGCCAGAATCGATATGGCCATATGACTATAGAATAAGTGAACAAAAGGCTCAGAAAAAAGAACATTCTAGAGTGGATTTATTAGTAAAGCTGGAAAACTCTCCAGTCAGATCAATTTCTCAGAAGGTCCCAGAAGATACTCTAAGCAGTGTGCATTAGAATACTGAATTAGGGTACTGAGAGATCACTTCCTAGCAGGGTGCTGTAAAACATAGAGCATGTGGTGACTGTGGAGAGGGCCACAGTGAGGTGGCCACTAGGCTAGGGTAAGGAATGTGGGCTTGCAAGGACCTACAAGCTCTGGACAAGCAGCTGCAGTGGAGCACCACTGGATTTTTTCCATGTCTACTTCTGGAAGCGCTGTGGTAGGAGCAGGAAGACTACAACACAGCAGCACCCCAGAAGCAATATCCCTCCACACCCTCTACTGATAAAGCTTATATCATAATGCTCACTGTGAAGGAGAAATATCTGGAGGACTGGCTCCATTATTACACAGGAGATAATGCATAATCGATTATGAGATAAGCAATAAATTAATGTCATTGTTTATTCTTTTGACAACTCAGATTCCATACACCCTTTTACACACATTTCAACTTTCATACAACAAGTAAATAACTCTGTATTTCCACCCTTATAAGATACAACTATCCTTCTTGCTGGTGAGGAATTCTCACTTTTCCCAACAGTAAGGAGATGTATATAGTTCCAACAGTCATTGTATCCATTGCTGGCTATGTCAATGACTCCCAAATTTCACTGTAGTCCCATTGAATGTTCTGTTACCTAAAGAGTAAAATTTAAAGTTAACCCACAACAGCTTGCAAGTAAAATGAAAACAAATGGGTAAAGAAGAGAGAATAAAATGATTAGCATACAAATGAATGCATATAACAAGTAAAGATAAAACACAAAATTACTACAGTTCTTATTACTTTAATTGGTTACAGGATTTGGTTGATATTTAATTAGTCCTTCTTTCAATACCACTTTTATATTTCCCCATCTCAGCCAGAATCTCAGCTAGTTGGAGTTATTTACCTGGTGGAGTGACCGAAATGTTAATTTCCAAGGGATCTAAGTTGTCAATTAACCTGCCCTTTTTTTTTGTTGCTGTAGTTTTCATTAACTTTTTTTTAAATTGAATATGGAAGTATAAAGAGGCACTCCGAAGAGTCCACTGTGTTCCAAACAAAATCTCCTTTGTCCTTGCTGTGCAGCAGTAACTCAATTTCCTCTTGGTATTCTGGATCAGTAACTCCAACAAGTAGAGTAATTTCTTTTTTCCTTGTTTGTTCAAGTGGCATAAGGAGCCCAAAATGGCCGTGTGAAAGTCTCATCTTCCAATTCAGTAGAAATACCATTGTGTCTCCCAGTGGAAATCTTACCTCCTTGGATACAAAGACCTCTAAACTCATAGAGCAAAAATTCTGTGAGTGAGTTATTAAGCAATCATAGTGAGAAGAGGCACCCTTACACCTTGAATCCTGGAGCCATGCATTGTGGCTATGGGGGAAACAGTATCATACACTGGTCTGTGATTTGAAGAACATACTGCATCCTATACACAAAATATTATAATTTTAGGGTGTTGTTTCTCAACCTGTTTAGTAATTGAGTTGTACATAAGCAATTCAACATTTCAGTGAGCCCAGTTGCTTCCAGGTGATGTGATATGTAGGAAAATCAGTTATGCCATAGATGTAAGTCCATTGCTGCACTTACTTTGCTGCGAAATGAGTTCCTTCATCAGACTCAGTGCTACGCAGAATTCCTTGACAGTAGATAAAGCTTTCTCTAAGCCTATGGGTGATGATACTAACAGAAGCATTACGTGTAGAGAAATCAATTACAGACCATATGTAATTTTGTGCCGTTTATGATATAAAAGATCAAATGTAATCAACCTGCCATCAGTTTGCTGGATGGTTACCCTGGGGAATGGTGCCGTATTAGGAGCTCAATTTTGGTCTTTGCTATTGGCAAATTAGTCAGTAGCATTAAGCAGGTTAGTCTTAGTAAGGAGAAATCTATGTTGTTTAGTCCCTCTGGCCTTGCCACTATGGCTATTTTATTGTCCCATTGAACAAGAGCTAGTATGACTAGAAAGAGGTTAATGAATATCATTAGAGCATGCCATTTTATCCACATCATTCTTAAGAGCTTCTACAGTGGATGCCCTTTGTTTGGTTTCACACAAAACACAAATATCTCCTGTCTGTGCCATTATGAGAGGTCCATTGACATAGTTCTTTCCTAGACCTCTTGTCACCAACTTTCCAATCCTGTTTCTTTTTAAATCCCTGACCATCTAGCCAAACTTAGCAACTGCCCAAGAGTTAGTGTGCATTTACAATTTGGCCCGTCTTTCACTCCAAGCATAGCAGGCAACCAAATGTACTACTCAAAGTACTGCCCATTGTGACAAGGAGATTCTCCTTCAGCACCACCCTTCTGAGCCATGCCTAGGTGAGGCTATAGTGATGCAGCTGTCCTCTTTTTGTTAGTACCATCATATCTTACAGACCCATCTGGCTTGACATTCTTCTTCCTCAGTAAATTGGATAATAAAAAATATTTCCAGAGGCCATAGGCATTGATCGAAATACAGAAGGCAATGCAACAAGAGTTGGTGTTAAATTAGTGTGACCAGTTTGCTTACTCTTACTTTTAAGACCTGCCTGAGCTCAGTCTTTTGTACGCCATTTTAGTTTCATGATAGATTGTTGCTGATGACATCTACTCTTATGAATACATATGGCAAACAATACCCAGTTTATAAGGATAAGCTTGGATTCCATGGTCAATTAATATCTCATGTTTAGGCATTCAGTTTCTACCAAGGCCCAACAACAAGTCAGAAGCTGTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAAAGGAGAAAAGTTATTTGAAGGAGAGAGCAGAGATGTGCTCTCAAGTCTTAGAAATATCTGTTGTTTTTCTCCTACTAGAAGCTCCAAACAGCATCCCCATTTGTCACGGTCACTTCAAGTATCATTGGACTTGTTGGATCATAAGGACCAAGTAGTAGCTTGCCTTGTACTGCAGCCTAAACTTGCTTCTCTTGCTATGGTCCCTACTTGAAAGTGGCAACCTTACAGGTGACTCTGAGTATGAGTTGAAGTAGCACACTGAAATGTGGTATAACTTGCCTTCCAAATACCAGAAGGCTTACTAAACAAAGTGCTTCTTTTTCATCGTAGGTGACGTGGAGTGAATCAGCTCTTCTTTCATCTTGGAAGTAATATCTTGACATGCTGCAAACCAATGAACCATCAGAAACTTCACCGAGGTTTCAAACACTTGTATGTTGTGGAGTTTATCTCCTACCCTTTATTTTGCATATGTCATACTAAAGTATCTAGAGTACTTGCTAATCAGATCTAATGAGCATAATGTCATTGATATAGTGGACAAGTATGATATTTTATGGAATAAGATAGCCATGGTCTCTGCAGGCTACAATAACCCTTAGAGAAGAACTGATGGAACCCCGATGCAGGATTGTAAGAGAATACTGATTGTCCTCCCAGGTAAAAGCAAAGGTCATCGAGTGTTCCTTACAAATTGGTTGCATAAAAAAGCATTATTCAGATCAATAGCTGCATACCAAGTGCCAGAATTAATGTTGATTTGTTCTAGAAAAGATAATATATCTAGAATAGCAGCAGCAATTACAGCCACCATCTGATTAAGTTAACAATAGTCTCTGGTCATTCTCCAAGATCGACCTGACTTTATTAGAGGCTTAATTGGTGAGATAAATGGGGATGTGATAGGTATCACCACCTCTGCTATATTTAAATCTTTGATAGTAGCATTAATCTTGGCAATTTTTCTAGGGATGAGATATTGCTTGTAGTTTACTATCTTGATAGTGAAGAAATGTTCCAGGGGCTTTCATTTAGTCCTGACATAATCACCCTCACCCTATGGTCAGAGAGCCAATGTGGGTACAAACTGAGCCAGTTGTGATACTATTTATTATTTGATCACTGTAAGCCCCACTTTGACTATCAGGCCATACTGGCATTTTGGGTCCCCAGGAATTGTCATTAATTCAGATGACTATCCAATAATTTCCCCCAAAGGTTTGAGTATTTCCTTCTCTCCAGCACATTCTCACTCTAATTAGTGGCCACAGGATTCTGTTTACACCCCTTCAATTAAGGGCTGCTGAGTCTGTGAATTGACTAAGGTCTGGAAACTCAGGGAGAGGCCATGACTCTTCAATGTGGGGACTCAAGTTTTTTGCTCTAGATTTAGAGTTTATTTGATCAGTCAAGAAACACTTTAGTAGGCTATGTATCTATTTAATTCCCTGGAAACCATGATCAGTTAACCTACTGACAGATATTCTTGTGTGTCCAAGCATTTTGATTATTGGTACCTCTCTGATATCTATTATGATAAATATTACCACCTTCCCTTTCAGGCTAAGTGCTGCCACTTGGTCTAACACCTTTAGAATTCACTCCTGAGCATGTTCCCTGAGTTTCTTTACATATGCAGTAGCAAAGTCTTGCAATTCTTTTGGTTTGTAAGCTACAATGTCATGAGTTATAGTGTGTCCCGGCCCCTTGGAGCATGGTGAAATTTCACCCTAGTTATGGGTCTAGTGGCGACAAAGTGTGGTTATGGTAAGTCTTGAGAGAAATGAGCATCCATTTTCAAGGCTCTTGCCCCAGGTGAGGTTATCACAGGATTTCCAAGCAAGGTAGGCAACAAAGAGGAACCTAATTCTCTAGATAAGGAAGACTCAAAATCACATGGGAATTCCCAATTTTCAGCTTTCTCTGGATCCAACCAGATGCCGACATTCTAAGTTTAAGGATTTCATCATTTTCTAATCAATGTCTTCAACTTCACATTGGGAAACTTGACAAGACTGTGGATTTAACTTTTGGAATTCAGCAGTCCATGCAACTAAATGGTTGCTTTTTATTTTCAGCAATATTAGCACTGTGGCTACAAGAAAAAGGAAATCCTTTCAAAGCTGTCACGGAAGTTCTCTAGTTCTCAGATAGTCACTTAAGCTAAAAGTTGAAGAATCTGAGCATGTCATTTTCTTTTTTGTAAGTACTCAAGTGCATTTAAAAAATCAATCTCAAATCATAGTCCTTGTAGTCATCATTAGCCATAAAAGTAAAGTGCAGCAACCACTTTGGATCCTATGGTGCTTGTTTCAGTTGGCTCTTCGTCACAGTAAACCACAAGTTACAGCTTGATTAGTTACTATATCACTTTATACCATGGATTCCTAGTATCCTATTCCCCATAGTCAAGGAGCTCAGCCCTGCACTTCAACCCATGTGCATGATCTAAACAATACAAGAAGGCCTACCAAACAAAATGCCTCTTTTTTATGGTAGGTGACATGGAGTGAATCAACTCTTCTTTCATCTTGGAAGTAATATCTTGACAATTTCTGAATCCCATCTTTGTGAAACTAGTTCCACTACCAATTCTTTATCAGTTGACTTTCAGTTAGGAGACAGTAATCATACAGGAAAAGTTTAATATAGAGGATTATTCACTATAACAGAGGAGTAACTATGAGACGCTATAAATACATAAAAAGAACTCTAAAGAATACCCTAGGTCTGAGGGAGAGTACCTGAAGAAGACAAAATTTGGAAGGGAAGCCCCCTCCCTAAGCTGAGATTTAGACCTCTTTTGAGGTACAGTTTCAATTCATTTGTTGGAGAAGATCTCTGAGCCACTCCAGTATAGCAGTCACCCCATGTCTACAGGGCATACTTTCCAAGACACCCAGTGGATACCCGAAACAGAAGGTAGTACCAGACCTGACTGCTGTCAATCCAAACATGTTTCTGTTCATGTTTTCCACTCACAGATTTAATGCCTTTTCCTTGGTAATTTAGTACTTAACATGCACTGTAGCTATAACTTTTGCAGTTTGAGGTGGGATAGCAACTAGCATGAGTTTCTTTTTCCTTCTTCCCAATTTCATGAATAGAAGATTTGTTCTTACCATACATCTTAGCAACCTCAACCTATAATTTTTTCTCATCTCTTATCAAGTTGAGAACTTTCACTTTTTCATACAAAGGAAGCATTTTACTGCTTCTCTTTGGCACATCTGAATTGCTAGTAACACTACTTTTGTACCCTGGGGCCATTGTAACACTACAACCTATAATTTTTTTATTTCTTATCAAGTTGAGAACTTTCACTTTTTCAAAAAAAGGAAGCATTTTACTGCTTCCCTTTGGCATATCTGAATTGCTAGTAACATGACATTTGTGCTCTGGGCCCATCTAAGTAAAATAAGGGTGGCTAGAACACAAGCACTGCAATACTGAGACAGTTGATCTAATAACTGAGATGGCTCCTAAGCAACGAAAGGCGGGTGGCGTGTACAGCGTGGACATGCTGGAAAAAGGAGTGATTCATGTCCCGGGTGGGACAGAGCAGGACAGCACAAGATTTCATCACACTTCTCAGAACAGCATGTGATTTAAAATTTATGAATTATTTCTGGAACTTTCCATTTAATGTTTTCAGAACACAGTTGAGCACTGAATTCCTGGAAAGTGGAAACACAGATGAAGCCAAGGGTGGGGACTACTGTACTAGGCAAGCAGAAGACAGCCTCTGGGGTGGGTCTGGCTAAGGCTGTTGGTGGGGCTGGGCAGACAGGAGTTGAGTGCAAGCTCACTCACGGGCAAGGCAACCTGAGGCCTGGGATGCATGTTGCCTACATTGAAAGGGCCATGGCAAGGGGGTCGACTGGTCAGGGTCAGGGCTGCAAACTGGCCGAAGGACTGAAAGCTCCAAGAAAGTGTATGTGCTAAAGATGCTCTGGAAGTTGGCAGCAGACAGTTCAAGAAAGACAATGTAGGACACACAGGGTGTTGCACTGCTACTGACCTCTACCAGTGGTGAGACCCTCATGCCATTCACAGTTGTAGGAGAGTGAGTCAGATTGGTTGAACTTAAGATTCCTTTTCTTGGTGAGAAGATTACTTGTTCACTCAAAGGCTGCACATAACATGGGATTACTGAGATATCAGGTGCTAATAGGACTGAGGGATTAGATGGTAGACTGTCAAAAATTGACAGAGGTTCCTCAAACAGTTCCTGTTCATGATACCCCTTTTTGGGTGACTGAGAGATAAAGATTCCAGGTCTTGTTCCTTTAAGTTAAGGTATGCTATATGTGTGAAAGATCAGTTGAGTTTAAACAATTTCTAATCCTTCATTCAGCCAATCAATCAGTCATCTATTCACCAAACATGCATCAAATGTACATAAAGTGCAAAATCCCATTCTGGATCAATTAAATGCCCCTGCCACGCATTCATGCCTTCTCCTTTCATCCCTCTCATTCCTGCTCTTAGACTTTTAAGAATTTATATAATGGAGCCCCCAAATCCTCAGTTATTCAATCCCTCATGTATGTCATTAAAGTTTTTTCCACCAACATCTTCCCCTCAGCCTTCCCTCCTGTTTCCCAGCCTTGGTCATTTGAGCATTGGTTTGAGTCTCCATCCCAGGAAGGACAGGGAAGGAAAATGAGGTCAACCTGGACACATCTCATCTCCAAGACTATGTTTAACAGCTCTGGCAGGAGATTTTAACACAGGAAATTGCATAAAATATGTTTCAGGGATTATTTTTGGATTTCAGTGACCCATGTTCTTCCTGGCACTGATCATCAGAGCTAACTGAAAACTAGTGTTGATTAAAAAAAAAAAAAAAAAAAAAAAAGCCTGTGGGTTAAAACGGTAGCCACAAGCACTCCAGAAGGCAGCCACGGTGTGAAGAAGAGTACAAAGTCTTAATTCAACTTCTGGCTTTCCTTCTTAGTAACTGCGTGAGCTGTTTTATTGCTTTTTGAAACACAGAAACATGCAATGTGCACATACAAATATTCACGTGCATGTACACACGAATACTTTGTAGGTACAAAAGCCATAGAGGGTAGCAGCTAAGGCTGTGGGCTCTGGATGCAGATGGAGCTGGTGTTAAAATCTCGCCCTATCATTTTACTAGTTGTATAACTTTCAGCCACTTACCTTCTTTTAGCATTAATTTCTGCAGGTGCAAAATGGGACTAATTATAGTACTTATTTCATGAGGTTGTTGCAATAATTAAAAGAAATAATGCATGTAAGACTGTTAGTAAATGTTTGGCATGTAAAGAGCACCTAATAATAAGCAGTGGCTACTATTATATACACACACATATACATTATACATACATGCATAAGGCCATTTCAGTCAATGATAAACTGCATATACAATGATGATTCCGTATAATTATAATAGACCTGAAAAATTCCTATAGCCTAGTGACTACATAATATCCATCATAATGCTATTGCACAATGCATCACTCATGTGTTTGTGGTGATGTTGGTGTAAACAAACCTACTGCGCTGCCAGTCACATAAAAGTATAGGCTGGGCATGGTGGTGTAATCTTAGCACTTTGGGAGGTGGAATCAGGAGGATCACATGAGTCAGGAGTTTGACACCAGCTTGGTCAACATACCGAGACTCTATCTCTATCCCCCACAAAAAGAAAAAAGAAAATATAGCACATACAATTATGTACAGTACATGTACTTGATAATGATAATATATGACTATATTACTGGTTTATGTATTTACTATCTTATGCTTTTTCTTGCCGTTTTAGAGTGTGTTCCTTCCATTTATTAAAAACAAAGTTAACTGTAAAGCAGTCTTAGCCATGTCTTTCAAAAGATATTACAGAAGAAAGTATTCTAGTCACAGGAGATGACAGCTCCATGCATGTTACTGCCCCCTGAAGACCTTCCAGTGTGACAAAATGTGGAGATGGAAAATAGTGATATTGATGATCCTGACCCTGTGTATGCCTAGGCTCATGTGTGTGTTTGTATCTTAGTTTACAACAAAAAAATTTAAAAAAGAAAAAGAAAAAAAAACATAAAAGCTTATATAATAAGGATATAGAGAAAGAAAATATTTTGTACAGCTGTAAAATGTATTTGTGTTTAAAGCTATTATTACAAAAGAGTAAAAAAATTATAAAATTAAAAACTTGAAACAGTAAAATGTTACAGTAAGCTAAGGTTAATTTATTATTAAAGAAAGACATTTTTAATAAATTTAATGCCATGTAAGCATATAGCATTTATATGCACATAACTTATTCAATTTCTTTATTTAATTGCATATAATTCTCAAAAGACATTTCCCCCTATGGGACATGAGCTCTAAACAGAAAAAGTCTGCCACTCTAACTTCTAAAATATTGTTTGACTAAGTTATTTTCTAAATTTCTAAAAGAAAAAATCAGAAAATTCACATCAATGCTAGTACCCTCAGCAATACAGAAACAAAGCTAGTGTTTTTTTTTTTTTTTCCCTCGAAAGAAGCTCTCATTTTTCTAATGTTTTCCCTTAGGTACTATGTGCACTACAACTATGGACAGAGTGACTACTGGCAGAAATGAACCCATGTGAGAATTCTGGGATCGAAGAGAACAAGGAGCTAAAGGAAGTCAGTTGGATGATGTAGGAGGGAGGCTCCTGTTTTTCTGACATCACTGCCAGATGAAGCACCAAATAATTAGAAAGCTTTCACTCCATTTGCCTTGGATAGATTTAAAGGCTAGGCACAGTCATTTGTGTTAGTTAAAATCTCTGAAACCTTAAAAATAAATAAATAAATAAATAAAATCAAGTCTGTGGTAGTATACAGCAATGTCCTCGGCCTTCACATTCCCTCACCAGTCACTCACTCACTCACCTAGAGCAACTTCTAGTCCTGACAGCACTGTACATGCCCTGTATAGGTATACCATTTTTATCATTTATACTATATTTTTATTGTATCTTTTAAGTGTTTAGGTTTACAAATACTACTGTGCTACAATTGCCTACAGGATTCAGTACAGTAGCAATCTGCACAGGTTTGTAGCCTAGGAGCCATAGGCTATGCCATATAGCCCAGACGTGCCATAGGCAATATCCTCCAGGCTCTGTAAGTGCATGCTATGATGTTTGCACCACAACAAAATCACCTAACTATGCATTTATCAGAAGGTACTCCTGTCACTAAGCAAAGCATGACTATACCTATAACCTTGAATTACTAGCTGTGTGACCTTTATATACCCCTTAACCTCTCTGAGCTGCCTTTGCAATTTGACATCAATAACCAACTCCAGGTTTGCTGTCAGGATTAAAGAAGAAGAGTAGCTAACATTTACTGAGCTCTTACTACTGTATATAAAAGGTCCTCATACAATATACAGTACTATCAGGTATAAGATATTATTGTGCACAGCAGCTGGTTAAAGGATTCTCAACAGAAGAATGAAATTCACATTCACTTCACAATCACCCTCTGATTAAAATGCCACTTGGGAAGTACAGACCTTTCATTCTGAAATGATCCACATTCCAAACAAAAGGTTAAATAGAAAGTTACCACTTTGACTTCGCAATCAAAGGTAAGTTCAATCTGTCAGCCTGTATTTATGAGGCAGAGAGGGAGCAATGACAATACTCTGAAATGAAGTTCACCTTGTTCAAGAGATGCTTTTCTGTGGAACACTGAAAACCAATACTCTGAAGCCTCTGGCACAGTTGAACTCTCCTTCCAGGTGAAAGAGAGGGCACAGAACCAGTAGGATATATATGTACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGATTTTAAGGAATCAGCCCCTGGTTTTGGGGCTAGTAAATCTGAAACTTGTAGGGCGGACTAGCAGACTGGTAACTCAGGCAGGATTTCTATGCTGCAGTCTTGAGGCAGAATACCTTCTTTTTCAGGAAACCTCAGTCTTTGCTTCTCCCCACCCCCCCTGCTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAATGAAATGGCACGATCTCGGCTCACTGCAACCTCCGCCCCTGGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCATCACCATGCCTGGCTAATTTTGCATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCCAGTCTTTGCTCTTAAGGCCTTCAACTGATTGTAGGAGGACCGCTCACACTAAGGAGAGTAATCTGCTTTACTTAAATATTGTAAATGTTAATTACATTCACAAATACCTTCACAGCAACATCTAGACTAGTATTTGACCAAACACCTAGGTACCTTAGCCTCACCAAGTTGACATATAAAGTTAATCATAACAATGAGGGAAAATAATGACTAATTTTGCTTGGGTGGTTAAGAAAACCCATAGAGAGGCAATATATGAGTTTTAGTCTTTAAGAAGTAGGAGGAAGTGGGGCAAGGCTTTTCTCTAAGGAAACAAAATATGCACAAAAACTTCTGTCAGAAGCAGCCACCAACCCACCAAGGCCTGACCAAGAGCGTGTGCTCCAGGAAGAGGCACTTTCTCAGTGCAGCTGAGCAGAGCAGCCCACAGGCCTGGGGAAAAGGAGGCCCGAAAGGCTGCCTGGCACACCTGTTTATGAGCTACCTAGAAGGCTGTTTTCACCAGTTAGAATTTGTTTTACAGACAACTGAAACCCATTTAAAGTATTTAAGCATTAAAATGACATGGTGGAAAAACTAAGTTCTAAAATAATGGTTCTCAAACTTGAGAACACACAAGAATAGTTTATGAAAATGCCAATTCTCAGGATGTTCACCTAAATTTTACTATTCTACAGGGCCCATTGAGGTCCATTGAACAGATTTTTTTACCAGCACCTAATGAGTCTTATGCAGATGTTTTGGAGACCATACTTTGAGAAGCAGTGTTCTAGAAAGGTAACTCTGGCAGCAGAGCATGAAATGAATGAAGGAAAGTAAGAAGGCAGGCTGGGCTCACCATCAATTGGCTTTGTCCATGGGCAGAACTTTTGCTCATATACCACGGTCGGTCATGTGGGGTGCAAGTGAGTGGCAGTATTCTCTAGAGACAGAAGGCATCATAGGCTCATAGATTTTCCTCTCCATATTTGCATGTTCTTCCATTAAAATGATAAAAACCAGTGTTTCATTTGCTTCAATGTCTTACAAAAAGCCTTGCTTTGACATTTTTACTCAGAACCTGTCCCCTCAGTCATAAGTCCTAAGAATGACAGGATGGGAAGCAAATCTGAGCAAATATTCCTATTTTCTGTATTTCTCTTTCTTTTTTTTTTTTTTTGTTTGTTCGTTTGTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCAATGTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGTACCTGGCCCTGATTTTCTTTTGATAGAATGAGTTTGCTCTCAGGTTTGTTGGCTCCTGATGCAAATACATTTCTGATGGTCTTTTTTCACCATTTCTTCCAAAATGACCAGATGTTTTTGAATTCCATTGGGGAACACAGCTTAGGCTCTAATGGGAACCCCCAGCCCACATACATACCAGTAATTGTGTACAATGCATGATGAACAGATCTGTTTTCCTGTCTTCACCTATAGAGTTCCAGAGCTCATCTGGTCTAAGTACAAATCTGAAGCCTTGGACTCACCACTGGAGTTGGTCTTGCTGCCAGTGTCCCTAGGTGGAGCCCTCAGTGCATGTTTACTGACCAAGTTGAGTTTTCCCTCATCCCTATCTACCACAGTCACCCAGTTGTTGCTTGGGCCTTAGTTTGCTGATGGACACTCCAGATTTTTTTCCTTGGGACTGGAGCTCTTCCCTAAGCCACATCCTCTTACTCTGGGCCTTAATTCATGACCTAACTCTCTCTAGGTCCCTCCCCACCAGGCTGAATTCTGCTCTAAGCCAAGGGGGGTCATGAGAGTCTCCATGTTGCAACCTGCCTCACTGTATGCCTGGTACCTGGCCTGGAACTATGCCAGATTAGAACTCTTGATGTTGATGTTGGCTTGATTAAACTATTTTTGTTTATTTCATTCCTTAGGGCACTATAGTTTTTCTTTCTGATCACCCTACTCCATAGTCATATTAGTTCCCAGGCCAAGCTCTGCCTTTTCCCAGCTCCATCCCTTACAAGGCTATGAAGAAGGAGCTAATGGATCATATTTCTAAGCCCAAAGAGATGTGCCATTACACGAAGTCAAAATGCTGTTGCAGTTCACAGAAATTAAAGTTTGTTATATTTTAAGTCGACTCATGATGCAAATTCACATAAAATTTTGTTAAATGCCATAAAGAAAATCCAAACTTGTCTATTACTTTTCTGGGAGGACCCAAGTAGAGCTATCTCCACTCTCACTTCTCGTCTCTAAAACTGGACAGGATATGCTCTTCAAACGTGACTATCTTAAATTCAGGGGAGGAGAAATGAGAATTTCTCCTCAGACATCCTGAGATCATGTGCTCCAGCACAGATTTTATTAATGTTATTTTGCTTTCCATTTGGCAATTGTTTCTTGTGTGGCCAGCTCTACAGGTTAGGATGGAGACACCATCCTCTGTCCCAGAGACAGATGGAGTCAGTAATAGAATTTGGGTACCAAACCCCAACTCTTAACTCTAAGACGATATATGTGAATGTAATCTGTGAACTTCAGGACACTCTTCAAACTGTGATATCATAGTTATTTCAGACTTAACATAAACGAATTAAGAATGGTCAATATGTTGTTGACAATACAACCTACTCATTGCCTCTCTGCAAGGTTTTTGGATGTGCCTCTTAATCCTCAAAGGACAGAGAGGATCATTACTTTTGTCAGAGTCTTAGAGAGGGTTTGGACCAAGAGGACACTGTTAATAAATGCTATGAACCCTTTGTCAGGAAGCTACTATATGAATACTAAAATTCATTATTACCTTACAATGTGCACAAAAGAACACCTTCTCATTGTCACCTTAGGGGCAGGAGAAAAGTAACAATTTTATCAGCACCTGTGATTCTCTGACACAGAACTCTCTCCAGGAAAGCTGTTGCATTTTGATAGACCATCAATCTCAGCTCTTGGGCAATTGGCTTCCACCTAGCTGATGTGGAAATCAATCTTGGTTCCCAGAGGGCAGAGCAACTGTTACCAAAGGTTACAAAACAATTGCAGTTCCTTTTCTTCAGAAGCTAGTATAAAAGGACTTCTACCAGTCTTGGATAAATTTATCTCTCTGCTCTGCTCTCAGCTCCTCTCCTGGCCAATTTAGGAGAAAGAATGATGGAATCCAAAACACTGATGGTAGGAAAGTCAAACGAAAGGGCTGTCATTTTTAAAAAATATGATAACAGAGGTTAAACTGAACTTAGAAATATGGAAAATTATGCTATTTCAAGTTTCTCACATATCTGCCATGAATTCAGCCTAAGGCTAAATTCAACATATTCCCACTGTGTTACACATGCTGAATTCTGACAATAGACAATAGCATCCCAACAGGACACTTATAATCAGCTGGGTCTCCATCTCCGTATTTCCTTTATTTAGTCTAATAGATTGCCAATTTCTGTCATTTTCTTTCCTTTTCTGTCTCATCTATCTCTATTTTTCCTTTCTCCCTGGGAGAAATAAAACACAGAATTTCACCTAGATTATTGAGATAACTTTCTTAAAGAATCCCTACTTCAAGACTTTTCCTCCAATTCATTCATCAACTGATCATTGCAGGCCTGCTTTGTGCCAGGCATTTTTTTCCCACATCCTGAGAGGTGCATATTATATGTCCATTTAATGGATAATGTTGCTAAGGCCCAGAAAGGTGAATTGCATAGGACACTCAAAGTTACATACTTAACACTTGGCAGGTCAGAATTTGAATTTGGGTCTGTAGATGCCACATTTTACTGTTTGCCATTCCATTACATCATGTTCCTTCCACCTGACTTCCTTGTGGGCCTTCTCCAACAAAACGTTCACTATTTCACACCCCTCTCAAGTCTCCAATGGGTCGCCCATTACCAAATTCCTATGTCTGCCATTAATATAACCTGATGCCAAAGTCTATGTAAGTCTGATTGGGCTGCTATAACAAAATATCACATACTGGGTGGCTTAAACAACATACATTTATTTTCTCACTTTTCTGGATGCTGAGAAGTCCAAAATCAAGTTGGCAGCAGGGTTAGTGCCTGGTAAGGGTTCTCCCCTTGGGTTACAGTTACCTTTTTACTGTGTACTCACATGGCCCTCTCTCAGTGCTTACATGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGTGCATGAAAGAGAGCTCTCTGGTGTCTCTTCTTATAAAGACATTAAACCTATGGGATCACAGAACTGCCTTTATGACCTCATTTAAACTGAATTACTTTCTTAGTGGCCCAATCTCCAAATATAGCCACAATGGTTTTAATGCTTCAATATATAAATTTTGGGGTACATAAACATTCAGTACATAACACAAAGTATCCAAGTAACCCCGTATTTCTCTCCTCCTTCTTAGAAACTTTTCACCTGAAAAGCTGGTCTGTTATACAACTTTGCCAATCATCATGGACAGTTCATGTCTTTTGCCACTTCTGGACCATTGTTCTTATAATTTCTCCTATAATTTGGAAATGTTTTTCCAACTCCTTTCTACCTATTAAAATTATACTCATTTTTAAGCCAAACCTTATCCCACATCTTTCTAGAACTTTTAAAAATGATTTTCCTGACCCCAATGACATTTTCTTACTCTGAACTCTGGAAGCACTTACTATCTGCACAGAAGGCTGTATACAGATTACTTGGTGTCACTGTTGATTTTTCCCAAGGTGCTTCTTGCTAACAGATTCTCACTGTACATGGACACCTTGACGTTACTTGAGATAATGTGGACCAATGATCAGCTAGGCCCCACTTCCTGCATTCCTACAACCTGCTCCTTTTCTCATGACATAGATTTCACTGTGTTGCATGAGGCTCACTCATACTGAGTCTTTTAAAATTTTCTTTCTCCTTTTTCCCATGTCCAATTTTTCTTTAAATAATTATACTTTATATCCTATGTTTCAGTCTACTTGCTCCTTTTCTTCTTTTCTAAAAAGCACCATCTTAAGTTCTTTTTACCTCACTTGCATAGAGCATCTGGCATTCACTCTCTCCCTATCTTAATTTACTTCCATATACCAGCCAGTCAGTCTCCCTCCATAATTACCTATTCTATTATGCTCCTTACTGCATTGTTCAGCTCTTTTTTCAGATCCTCTGGTTTACAAGTTTGGATGTAGTATGGAAGCCTCATTCGATACCACTAGATTATAAATTCTACATGACCTTTTGCTGCTGCTGTTATCACTTGGTTCATGCTTCATAGAAACTTGTTGCTTGGTTGAACACCATTCTCATTTCACTCCTCATCTCAAAGTCTTACGGTAAACCCATTGCCCATTTTGGCATCACATTTCTACTTGCTCAGATGCATTGTTAAAACCTAAAATCAATTCTCTGTCTTCACGTCACTCAGTCATGCTTTGCTGATTGCCTTCCACATTTTCCTCTACCATAGTCTCACTGCTCCAAAAACGTGAATCTGACTAGACTCACTTACCCTTGCCTTACTTCTGACCTGAAGGATCCCACACTGTCTTCTAACCTGGGTGTTGGAATCTCTTATGTTCCAGGCAGTTGTGTGCTTGTTGTCTCCAACACAAAGACAGAAATGATTGCAAACCATAGCAAAACATGACAATGCAACATAAGCCCACAAGAGCAAAAAAGAAAAAAGAAGACAGAATTTTAATTTCTATGTATGATTCCTGATAGCTCAATTAGGAAATGTCTGAATTGAGATTTGGCTTATGAATCCAATCCTTAAACCAGGCAGAGTCACATTTGAAACAGGAGTTAGGGTTTAAAGACAACATGTAAGGTGGAAACTATGCAGAACATTTCTTAGAAAATGTTGGACTGACACATAATCCCTCCCTCAACAAGTTTGACATGGAAGTTTCTCCTGTTTTTTTTTTTAATTGGAAACTAGATGAAATAGTTGGCATGAGTTGAGGACACATGTTGTACCAAAAAAAAATGTGACTTTAAATAACAAGCATCATTCAGCTCAGGAAAATGTTCACATTATGAAAGTCACATAAGATACGACACAGGCCTTGAGAAGAGCAGATTCACATTCATTTTAAAGTATAAATTCATTGTCAGAAATGGCAAGCTCTTTCTACTTTTCATACTGCACAGAGACTTGGCTGCTACTTTTTCCAGTGCACAGAATAGCTTACGTAGCAGGTACTCAATAAGCACATGATTAAGTTTAATAGTGTCGCCCTTGCAGTTCAGAAATCAGACCCTCACAGGTGTCTCCCTCTTTTCCCCATTTCTCCACCTTTGCTCCATCAGGCACTTGAGTGCATCAGGGACCTCCCATTGCCACCGCTTGTACAGCATGGCAGAGCACTCAGGGCCAAGCCCACAGGAGTATTTCCTGTGTGGTCTGGCGTGATAGGAATATTTGCACAAATTTTCTTCATTTACAGCTAGAAAAAAGAACTGAAGGCTCCCCCAATTAGCCTCCATAAAAAAGTGCTAGTTAAGGAGACAGTAGTTTATGGAAATGTTGCCTGTAATAAAACTCTTTAATAATTTCACTATTTTGTAGGTCTTAGAGAAAGCACATTACCCTCACATGAGCAATGAAAGCCCATGAAATCTTTCAATTTCCTAACTCTGAAATCTTTTCAATTTCCTAATTCATGTAGTGATCATCCCCTTAAATTTTCATTAAGGTAGAAAGAAATGTATAGTCTTGTCATATCTATATAAGTTGTCTTGAATTTATAAATGGGGATTTCCCAAAAATTTACCTGTAAGTCCCTTCTTTGGAATTTGGAACTATTTCCCCATAGAAACGATGTAAACCATGGTATTCAAGTCTCGGGCCAGCCCACAACGGCCTTTCCAACCTGTGGTGTAGGTGAATTGGACAGATAAAATCCCTAAGCCTTGAATAGCACAAGACCTAGCCTCAGCTCTATGGGACAAAGACATGGGACCCAGGCCCTGAACTTCTGCTCCTATTCCATGAATCTTGAGAAGGATAAGATCAGAGACTGGAGGGTCCCTCAGTTAGAGCTCAAGGCAGAAGAGAAAAAGGCTCAAAAAGAAGCTGGAGACTCAAGAAGCATCTGGGGAGGATCTGGTATAATGTAAATGAAGTCTGTCGCATCAGGTGCTTAGAATTGCACAAAATCTCCCATCTTTGCTCTCTTCCTATCTTTCTATGTTGTTTTCTTCTCTTGAAAGAATAGGGGCTTTGAAACATTCCCTTTCCTACTGGGTGAACTTAGCTCCTTTTTGGATGCTTATGCTCTTTCATATATCATATGGAGATAATATCCAACTTGCAAGTGGTAGATATTAAATACAATTTAGTTGGTACATAGTAATATTGTAATACATAGTAATATTGTAGTACATAATAACTAATGTTATTATTACAATGCTGCTTTACCTAATAAATTGTAGAAGAATTTGAAGACCAGGCAGTTTTTACAGGCAGGCAGCCTCACTATTGTAATATTTTTCAATGTTTAATGTATTAGGTACTAAACCAAAGTACAGGCAGCCCCAGAGAGGAAAGAACAAAAATAATCACTTGGAATGCAAATATGCATGTTGCAGCACCCTAGCTGAAGACAACTCTGCTGATTTTGCTAATGTTGGGCAGTCTCTTCAAATGAAATATACTGCCCTAGTCAAAGGATAGGCTTGAGCTGCTCCTCCGTTAGGTTCCTGGGTTGACCAGAATTCTTCATCCTCATGAAGTGGGCCCTGTCTCTAAGATCATATGTGAGATGAAGGTAGTGAACCCGTAACCTTGTCTCATTCATCCTTAACATGATCTCACCTTCTCCCATTGGCTGCTGGAGATGCTGACCAGGCCAGTCTTCTACATGGTAAATCTAGCCTCATGGAATTTTCAACTTAGCCTCTTTGTTTTATAGGCTTACAAAAACTCTCATATAAATAAAATCCTTTGTTTCTTATTGTCCTATGCCAGTAAGTCCTTGAAGCTACAACTATTTATTGTCTTGCACTATGCCTGCTGTTCAGAGTTCTTTTTCAGTCTGGATTCCCTAGTTCTCTGTCAACCTGGCCATTTCCACTAACCTCAGAGGTGAGGGCCATTGCAAAAACAGTAAGAGGCTTAGGAATTTAATCAGTAAAACTGAAGCAGCTGCTGGTGAATATCTTTCTAAGCTTTTACTGTTGATGACTGAAAACGCCATGTAGCACATGGATGACAGAGAGATGACAGGTCCAAGTCATAAGGTAGTGTATAGAAGCAGACAGCCTACTGCCCAGGGGGAAGGGCTTTGGGTTTCTCATTAGGAAAACTAAGGTCTAACTTAGCCACTACTTAAGATGTGACCTCTAGCAAGTACTTAATCTCATTGTACTTCAATTTCATTACCTGAAATAGATATCATAATACCTGCTCCAACTATCTGTATTGTTTTCTAGATCAAATTAGATAATAGGTAACATATTTTGAAAACATACAGTATATTACACTAAGCATATGCAAGGAATTATATTGTCAATCATGACCATTATTATAAAACTATTCCATAGCCTGTTAGCTTGCTCTGAAGACAAATGCCATGTTGACCTCTTCAGTATGCCAGCTATATTCCCAAAGGATACACTGACCTTTTTGATACAGTTTTCTGTTTTTTGGTCTATTGCATTCTCTGTTTATTGGCCTGTGTCCTGCCTTGCCAGCAGTAATCAGCTTTCAGCTTTGTTTATAAACTCCTAATTGCAGTTATTTTTCTTTTACTAGATATTGGCATCAATTAATAAATGTTCATTGAGCATCTGCTATATGAATTAGACAGTTTACTGGTTCCTAAAAATGCAAAGATGACTAAGGCACAGTCCCTAAACATAAGGAATTTATAACTGATCTCAGGATTTCACAGTAAGGGAAGAAAGAATAGGAGATACACAGGGATATTCTCAAGGGCTATGTTTGGGGATAGCTTTCATCCCTTCCATTTACACTCTATTGGACAGAAGACAGTACACAACCCTAACATAGCAATAAAGGAAGGTAGAAACTATACTCTTCTTGTGTGTCCAGAAAAAAAAAATGATAAAACAGAATGTGCTGACCATTTAGCATCGCTTCTGTCATATGATCCAATACAAGATTGATTTTGGTATATACATGGCATTAAGGGAGCAGAGACAATGCAGTCATTACATTGCTGAAAGGTTGGGGAAATTGATGTTACAGCGGAGACTTGGAAGATGATTGTGCTTTGCCAACGACTGAAGTAGAAGAAGGGCACTTCAGAAGAAGAGTGTGGAACAATTGCTGAGGCATCAAGAAGCTCATGCTGTTTGCAAGAACTGATTTATTAAGTTGAATTCTATAGCTTCATGGAATATGATAAAATACAAAACTGAAAAGCTAGATTGGGAGTACATTTCTAAGGTCCTTGAATGCCAGGTTAGAATTTAAATTTATTTTGCCATGTGGTAGGAAGCTATTAAAGATTTTAAACACGGAACTTTGGTGTGATTTGAAGAGAAAAATCCTCTGATGGCAGAGTACGGAGGAAATTGTAGAGTGAGAGACTAATTAGGAGATGAACTATGTCAATGGTTTTCAAACAGAGCTGCATGCCAGAATTTCCTGAGGAACTTCACAAATACAGATATATAGGCCCTTCACTGAACTAATTCAATCAGAATTTCTGGGACAAATACTGTGTTTTTCAAAATGACTTAGGTGATTCTCATGTAGAACCAGTGTTGAGAGTCACTGATCTATACCAACAAAATTATAAAGGCTTCAAGAGCAGTTCTGTGTACTCGACATATTAACTTCTGTATTTGGCAAATAGTAAGAGACCACGATACTTTAATTCATTGACTGATGCATACTCCTGGTCACGAGTAAGGTTTTCCCAGTGCAGGTCTGTGTTAAACCTTGTTCGGGCTTTGTTCATAGGAATAAATTACTTTGGGTAGCAGTTTACACTGGTTGGGGGAAGCAAATGACTATGTCCAGACCTCGTGCTTGTCATTGTCAAATAATGTTTGTGTGTGTATGATTAGATGAGAGCAAGCATAGGATTCATCAACAATTATTGAAACACCTTCTAAAGTCTCATCTGTTTTAAAATATCTACTTCAACAACATAAAAAGGACTCATTAGTCTACCTCCAAATCTTTCTGATATTCATCAACTTCTTCAACCCCTCCCCCTCGATGAATTTCATGGGGCTGTTATTCACATCCCTTACCACTTCCTAAAGTTCTTGGATCTCCAGCCCTCCTGGTCACTATCTTCCTTTTTCTGGTAGCAGAACTGCTCCCCTCCTCCAGAGTGCTCCTGATCAAGAAGAGTGGGTATGCATCTTCCCTTTAAGAATGGGATCCTCTTGGCGTGGAGCTCTCTCTGGAAATCCCTTAGGCAGATGGGGTCTGGATGTTCTGGAAGTGTTCTTTATCACCTTGGATACCCACTAATATCTTAAACTTGTCTCCTTGAATGGCTCTTGCTACCCTCTCCTACTGGCTGTTCCATCACAGCCCCAGGGCTCACTTACATTTCAAAATAGTTCCCAATATTCACATTTACCATCTGGTCCTAGAAGGTCTCTCCTCAACAAATAGACCCATTTGCAATTAGACTGCAGTCTTATGCTCTCAAAAGCAGTGTCTCCAAGGAGTTCTCAGGGAGAGCTGCAGTACCATACAGCTTTAAAATAATGAAATTCTCCTAAGCCTCCATAATTTCTTTAGAAAATCAAGCCTACATTATGCCACATGTTATAACACTCTAGACTGGCCCCTCATCACCAGGATGCTGTGCCCTGGTATGGTAGTAGAGAGTCCTTCACCTCTTTAGCATCTGTGGTCAGATGCAGCAAAGTACCACATTCCTTTTCACCTGCTCCCCACAGGTTGCAAGAAATATGTACACATTGGCTGCCTGGAACACAAATAGGCATCTCAAAGCTTCCTACAGTTAATACACAAATTAAAATTTTATAATGACCCTGGCTACAGTTATATTTCTCTATTATCACTTGAACCTGCCTTTTTTCCAAAGCAGTTGTATATTTTAGGTTTTGTACTATATTTACAAAGTATGGGGACTTAAGGAAATATGCCCTAAATAAAGCACTATCCGAAAATTTCTTACCTACATTTCTATCCATGATGCTCAGAGAACAGTATTCAGTTTATGAAAACAACAATCTCCTTATGAAAGATAGCACCAGATGCTGCTTAGGCTGCAGAATTTGCAGCTGTGTGTTAGTGTTCACTAGCTCGTGACTGGTTTGTCACTTCTCTATGGCTTTCCCCTCTCCTGGGAGTGTGAGAAGTGGGAGAGCATTGCAGCTGTTTTATCTCCAGCGCTCTGTGGAAGGAACTCAATGACTGCTGCTGCATTCAGAGGTTGCATATCAGCTGCACCGCTGAGCAGCTGGAAATGAAGCTGATGAAAATTTTGGCTATGGTTATTCTACACGTTACGGGTCTTCAAGACCTGAGTCTTTTCAGAAAACATGAGTGGAATACAAATAGTTGACATCACACATACACCTCTTGCAATCTTTCAACACTGCTTTCAAAGCAAAAAAATTCCACTTCACAGGAATATGAAGCTGCCAAGTGTGAAGCCTGGTGTTCTCATTTGCATATCAATCCCAGAATGCTTTTCCAGCCTCAGCCTTTCTGAGCTTGAAGTTTTAGGCAGAATAAAAGAAAAGGCTCAGGTGTCCCTGTACTTTTCGAGTTTTGTGTAAATTGTATCTATGATAGACAAACAAGAGAAGTAGGGATTTTTCCCTTTGTCCCAAGCTTAGAGTGACTTCAAATGAAAAATGAGAGTTTGGAACAAGTAGAAATAGCATCATATTCACTCATCACCATTTGAAGTAACATTTCAGTGGTTGGATTCTAGTTACCTCCAATCTGTTTTTATCTCTCATTTCAGTTGCATACATTATAGATTCAGAGATATTGAGAACTGGAAAGGTCTCTACAGATAATCTAATTTAAAGTGTTCCCCTGTCAATGGGTCACCATCATCTGTGTAATCCTAAGCCAGTTACTGCCACCAGCTCTGCTCTCCAATGAGTATACTGTTAATATTTACCTCCAAAGACAGCTGGAGTGACAGTACAATCAGCAGGGGCTACATCTCACTGACAATGGTCATTGCTCAGTGACCAGGGAGTATTTTTGACCATTCCACCACAACCACCTGCTTCATGAATGTATAGCTTTAGAGCCATGCAATGTCTACATCTTCAAAAAAAATGAAAAGTACAATTTTCTTGATCTTGACTGTTACTTTGAAGGGAAGAAAACTGAGGCCAGAATGAGTAAGGTTTTCTCAAGGTTTTGTGGAAAGTTGGAAGCAGGGTCAAGATGTAAACCTAGGTCTCTGACTCTTAGTTAAGAGTTATTCTGCACTCCACACAAGGTGTGCCAGTCACTGCCTCAGGCCTTGAGACACAGCATTGACCAAGAAAAAATTGAGACTTCTACCTTCAGAGAGCTTATACTCCAGCAGCAAATAAAGACATTAGTTACAAGCAGTCACGATCAGTGGTGAATCACATTATCATAGTTGAAATAAGTTGTGCCTTTTTGTCCTCCAACTTCCAGGTAGGAAAGAAAAAATTCCCCTGCGTTTATTCTTCTTATGGACATCTAGATAAAGTGTCCAGTTAGTGAAATACAATCCTAGTGACTCAAGTGCCAAGACAGACAAGGATTTTTAGGGCATTTAATTGATTGCTTAATTAATGCAGTTGCTTAGGAACCTATTATTTGTCACACACTGTATTAGGCATCAGGAATTCAAAGATAAGAAAGATAAGATCTCTACCTTAGAAGGAACAGAGCACAGTGAGTCACATAAGTGAATGGATACTAAGGATGCCATGTCATGAATGCTGTAGGAAGTAAAGGTTTTTAGAGAATGCTATGACAGCACAAATGAAAGATCAATCCAGAAGGTGAGGGCAGAGAGGACAAAGAAGACTTTGTGAGTTAGTGACATTCAGCTGGACATTGGAAGACATGAAATGGAGTATTGTGTGTGAGCCAGACTACACATCAGAACAAGAGCACAAACTGTGGCTGCATGAACATCATTCATGACTCTCAGTTTTGGTCTGCATTCTACTGTATTAAATCTAATTCTACATATTCCCCAAGCAAGCAACAGATACCAGAGGAATGACCTCTTCTCAAAGACCTACGCCATAGTCTAGCACAGTAGTTAGAGGAGTACACCCTGAAACCAGACATCCTGGGTTTCTAGCTTTGAGTTTTTTTAGTTTTGTGACTTAAAATTTTTGTTTCCTATTTTCCTCATCTTTAAAATGGGCACAGTAAAATAATAAGGTTTGTATTAAGGTTAAATGAATTGATGATATGAAGTACTTAGCTCCTAGCACATACTCAATACATGTTAGCTTTTATTGCTTGGAACCATGGTGAGAATTACTAGTCTTGAATGCTTTTGGCTCCTGTTCACAGAGGTATGTACTGCAATGTCTTCTTTCAGGTGCCTTAAACGAAAAAGCACTATTGTGGAGATCTTGGGGCTGTCAATCTATACTGTTGGGGAAATGGGATAAATTTTCCTTGTTTCTTAAAAACTGCATGCCTCTAGTTCCCTGGGATGGGGCCAGCAGGGATAGGAATGTGTTTTTCCTTTTCCACATTTCTAGTTGTGTTCACTGTTTTTACCAACATCTATTTACTCTGACTAAGATTTGTGGGCAGGTTGGAAAAGTCATCAGAGGGAAATCTGGTAAATGACAGGTGTCATATAGTACTTGTTAGCCCTGCTCAGTTTAAAGGCAGCATTGAGGCTCTCCTACATCCTTTCTTCCATCCCAACCCCTCCAAAATAAGTTTTTGTTTTGTTTAGTCTGTAGTATTCTTCTCACACATTTTACCATCTTCAGTCTATAGAAAGTAAGATGATTTCTTTCAGTCTATGAGAGCCCTGGATTCCTATTTGGCCACATAAACAGAAGTGTTGCTGTCCAAAGCCTGACTTGGGGCATGTCTTAGTCAGTTTTGGCTACTATAACAGAATACCATCAATTGGGTGACTTAAACAGGAAACATTTATTTCTCATGGTTCTGGAGACTGGGAAGTCCATGATGAATGTGCTAGTTGATTTGGTGTCTAGTGAGGGCTCTTGTCCTAGTTGGTAGAAGGATGCTTCTTTGCTGTGTCCTCACATGGCAGAGGGGGAGAGATCATCTTTCTCATGTCTCTTATAAGGTGTCATGGACTGAATGACTGTGTCTCCCCCAAATTCATATGTTGAAGCCCAATACTCAATGTGATGGTATTAGGAGGTGGGGCCTTTTGGAGGTAATTAGGTCACGAGGGTGGGGCTCTCATAAATGGGATTAGTGCCCTTATAAGGAGAGACAAGGAAGAGATAATCTCTATTTTTGCCATGTGAGGAAACAGCAAGAAGGCATTTATCTGTAAATCAGAAAGAAGCCTCCTACCAGGAACTAAATTGGTACCTTAATCTTGGACTTTCCAGCTTCCAGAACTAGAATTGTGAGAAATAAATTTCTTTTAAGTCACCCAGTCTATGGTACTATTATTATAGCAAATCAAAATGACTAAGACATAAGGGCATGTATCCCATTCATGAGGGCTCCATAATCATGACCTAATCACCTCTCAAAGGGCCCACTTTCAAATATGATCACACTGGGGATTAGAACTTTAACATGTGAAATTTGGAGGAACACAAACAGTCATCACAGGGCAGTTTTCCCGGACTGGCCTCTTCTACCTGGGAACCATACTCCTCACTCAGTTCCCTGTTTCATTCCCTTTCCTCAGAGCTCCTACTATTCTCCCTTCCATACTGTCCTCAATATTACCATCCAATATATACACCCAAGATTTCAACTGACCAAAAACATACATGTTATTAAATTATATTGACAATACCTACCTTACATAACATAATTTACATTCAATGAAGCTACATTTTACTTAATCATCAATTTTTGTTTCTCGTAAGCCCATTTTTAACAGAAGTAATACAAACACACTTTTTACCAACAATAGTTTCCAGACATGACAACTAGACCCCTGACAATACAACCTTGATAAGTTGCCAACTCCCCCACACCCTTGGTCTCTAGCCATTGTCTCTTCTCAGACAAACTTTAACACAACCATTAGCCTTGCTACAAATTAAATGCTTGGTCCTGGTCATTTGTGGAATTATTCCAAATAAATATATAATGTCAACGATTGAATTTTTACTCTTTCATAAGCATTTTAAGCTATCTTCATTAAAGAAAGATTGGTTGACTATGAAAATACTGACAGCTTAACACATCTGCATTTCATCAGTAATACAGAGACACAATATTCCTAAGAATATATTCTATCTGGAGAGATAACCTTGCTTTGTGCTTTAGCAAAAGGTGACTTGCTTCTTTTCCTTGAAATGGTGAGTGCTATCTCACAGAAAAATTGCAACTGTTCATACAAGATGAGTTTTGAAGAGGGAGCTTCTTTGAAATGGTGATGAATCACATAGCAGGTAGGAAAAATGATTAAAGGACTCAAAATAATTTTGAAACTCCTTAAACCTAGTAGTTCTCATAAGATGTTTGACACCACGTTTTGTTGGACAAATAAACAACTTCAGCATTCAATGTTGTTCTTCCATTTTTTAAAGATGACTTCGAACCTTTACCTTACTAACTTTTCCAAGTAGAGGATGAGACCCACTGTTGGCCTGTGAAGCCAGAGATCACACACACATGCAGACACACACACACACACACACACACATGCAAAGGGATATGGATACGTTTAAAAGAAAACCAGATGATGAACTCTAGCACATAAGCCACTGGATTCCTGAGGCTTGATTTCTCCTACTCATCTTATTCTTATGTCTTGAGAGTTCCATTTTCTGACTTTCAGATCTATTGCTTCATGAAGTCCCTGGCACAGGATTTTTCAGAAGCTCTCTGACTTTTGTGCCTCCCAGTTCTGACATAAAATTACAATCAAGGTACATGTTTAGGCAATGGATTCACCTTATGAATTTTAAGACACGTCTGGAGAACAAAGATGTACAATAGCCACATGTCGAGGGTATGTACTGAGGAAGGGAACTGCACACAGGACCAGAACATGCACCCCCTGTGCCTCTGGGCCCACTCTGGGTTTTACTTCTTGTCTAACATTAGACTAGTTGATTCATGCCTTCATTGTAGGTGATTTTGTTCAATAAGAGGAAAACATTCAGTGTCCTTCACTTCCAAGACCAGTTCCACCACAAAACAACTAGTGAGAACTTAACTTCTGAAAGTTGTTAAATATTGCAATGGGGTTGTCATTTATTGAGATGTGGTTAATTACATATACTTAGGTAGAGTCAGGAATTTTTTGATGAGTTTATAAACTTCATAAAGTATGGTTAGTTAACAGTTTGTTTTTATTTAATTCTCCCAATAAAAGTCCTTGCAACATGAAAAGGAAAAAAAAAGGCAGGAATTGTGTCACAAAATTTATGGATTTAGTCAAATTGAATCCTGAAGGCAATATATCTATATTAATATTTGACAGCACATTACTGAGAATTTCCAAAGTCTAAGGATATGAGCTGGGTTTATCCACCCCTCTTTAATTTTTACGACTCCTATGTCATTACTAGCTCACTGAAATATTAATTAATCAGAGACCAATATATTGTTATGGTTCATTGAATTTTCCAGTTAATTGCGGGTTAACTAGAAAATGGTTTGTGTTTCAAACTTTATTGAAATTCTTACTACAATGCCCGATTTTATGACATAATACAGAACCCTTTATTCATTATTCAACAAATAGTGGTTGAGGGCTTGCTGTCCTGTGAATCAGTACTGAACACTAGAGACACAGACCCAAGAGACTTGGCCACCCAGGAGTCAGGAAGGATGACTCACCATTGCAATGAGTGGGCCACAGAGTCTGGGCTATGTGACCTGCAGTTTATGCAAGGGCATCCCAGAGGAGAGGCGTCCACACGGCCCGAAAACTAAGGGAGGGTGAGACCCGCAGGAATGAAGGACCTTCCAGAGATAGGAAAATGCCATGTGTGAGGCATAATTGTATTCAGGGACCTATGAATAATTCAGCATGCATGGAGTATGGTAAGAATGGGAAATAGTGAAAGGTGAGAGTGGAAGGTTATGCTAAAGACCATGGACAAGGATCCTTGTCTTGTAAGCAAGGAAATAATATAATACATTGTGTATCTCAGAAAGGTCTCTTAGGCAGGCTTGTAGGGGGCTGATTAGGAAGGGAGAGGGGAAAAGCTAAAAGCAGGGAGATGAATTGGAAGAATGTGGTGGCAATTTGGGTAAATGTTATGAGGCTCTGTACTGGCTAGTGATAGAAAGGAAAGGTAAGATAGGAAAATACCTCTTTTAGATCAGTGATTTTCAGTGTGATCCCATGAACAGTAACATTAGCATCACCTGTGAACTTGTGAGACCTGCAAATTGGAGACCTACTGAATCAGATCTCCAGGGCTGGAGCCAAACACACTGATTTAACAAGCCTTCCAGGTGATTCTTATTCTAAAGTTTGTGAGCCACTGCAATACATTGATTTATAAGATTTTCTAACTCATTTGATGTTAGGAGAAGAACAGGATGAAGGACGCCACGTAGATGTCTTTAGTATCTGGTTAAATGTTTAGCAAATTGTACCATGGATGACTCAGGGTCTCAGAGTCATTGTTTGACACATTACTTAGGATTTTTATGGGAACAGGGATAATTTACAGATATATATATACATCCTACTATTGCTTCTCAAATGAACCCCAACAGCTTTTGTCTGCAGTATTGTACTAATGACCTCTCCATGCTGAATCCAACAGTTATTTCTAAATGGCCAAATGTGCTTTTTAAAAATGTCTATTTATTTTCAGGACTTCTATATCAGTGACACAGATAGCTCAGTCAAATTAAGATAGTTCAAGGAGAGTCTATTTACAAAGAGACAACTTACCAAGGCGCAAGTGTGGCGTAGAGGAAGAACAGGTGATAGGGCAGGAATTTGGGGCCATCAGGAATAGAACTTTCACCACCTTTGAAAAGATGAGGGCAGGAAAAAAATTCCTCTGAAATTCCAGAGGAAACAGAGTCATACACTGCAGGACAACTGGGGAGGAGCAGTGGCTTTCTGGTCACAACCAGGCTGAGGCAATTGTACAGGGAAGGAATCGTGAATACATTCCCTAACCTAATAGTTCTCAAAATGTTGCCTCCAGACCAGCAACATCACCTGAGACCTTGTTAGAAATGCAAATCCACAAGTCTTATCCAATAATTAGATAAGAATCAGAAACTGGGGGTGGGGCTTAGTACTTTAACAACCCTTGCAGGTGATTTTAAAGAGCCACTGATTTAATCTCATTCCTTTCTTTCTAATCTTCTATTGGGGCTCCTTCCCACTGGCCAAACCCAAGCAGACAATGGACGGAATGGAAATCAGTTTCATTAAGATCAGCCTTCTTGGAGACAGCCAGGTGGAAAACGCTGAAGAAAGCACCTGGCCAGGCAAATGCATGACACTTTAGCACAACCTCACATAAATCAGTTTTCTGCAACCTCACTGGCTGCTCCTGCTGGTTTCTTGCTATTCTCCGACCTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAGCCTCCGCCTCCTAGGTTCAAGGTCTCTGACCTCTTAATGAAAGATGCCCCAGGGCTCAATCTTTGAGCCTCTTTTCTGTCTACTCTCACTCCCTTTGTGATTTCCTCCAATCGCTTGGCTTTAAATGCAATCTCTTATATACCAACAAACTTTCAAATCACATCTCCATACCCTGGACTGGTAAATCCAACTGTTGACTTGACTTTTCTACACACATGGTTAATAGGCACCTCTAACTTACCACGTCCAAAATTAAGCTCCAGATCTCCCCCTATAGCCAAACCTTGTCCTGCCACAATAGTCTCCATTTTAATTAAAGGCAACTCTATCAAACTTCTCTCAACCCCAAAACCTTAGAGTCATCTTTGATTCCATCCTGTCTCTCCCATCCTGCCTATCCGTAAACAAAATTTGGCAGTTCTATTTTTAAAAATATGTCTAGGATTTGGTCACTTGTTACCTTCCCTGCTGCTACTACAGTGTTCCCAGCCACTATCATCTCTTGACAGCATTACTGTTGCAATAACCACCTTCCAGTTTGTCTCCTAGCCTCTGCCCCTACCCACTTCAGTCTATTCTCAACATAGCCAAAGTCGTTTACATATGAGACAAATCATGTCATTCCTTACCTCAAAATCATATGGAGATTTCATGTATCAGTCAAACAACATTATGCTGCAGTATCAAAAATAGAAACAACGTTAGCTAACACCACAGATTTTTTCTTTCTTTCTCAGGCAATATGTTTAGTGTGGGTAATGAAGGGCTCTGCTAAACACAGTCACTCAGCGAACTAGGGTAGTAGAGGCTCTGCCTTGACATGTACTTCCATCCTCTCTGTAATAGGGAGAAGGGGACTAGGCAATATGCAGTGACTCTTAAAGATTTTACTCCCACCCAGACTTGACACATCTCACTTCCACTCTCATTTTAATGGCTAAAGTGAGGTACCGTGCTGTGCAACAAACCACCACAAAATATCAGTGCATGCAACAATAAGCATTTGTTTGTCATGCCTCTCCAGGCTGGCTGGGGGTCAAGTGATTTAGACTGGGCTAGACTAGGTGGTCTGCTTGAAGCTGCATGTCCTCTGGGGCAGCTCTGCTCACCATGTTTCTCATCTTTCTCCTAGATTCAACAAGCTAGCCAAGACATGTTTTTTTGGGGGTGGTGGCAGAAATTCAAGAGAGAAAGCCCCACTGGGCAAGCATATCTCAAACCCTTGCATGCATCATGTGTACTTATATCCTGTTGTCCAAAGCAAGCCCCATGGCCAAAACTACAACCAAGAGTCAGAGAACTATATTCTGTCTATAGTGAGGCCAGGCAAGGGTGTGAAAGCAAAGAAAGGGTGGAAGAATTGGAGCACTAACCCAGTCTCTCACACATAGTCACACCTAACTTTAAGGGTGCAGGAAAATATAATCCTCTATATGCATGGAAGGACAACTGAAAATATTTGTTGACCACCCCTTGAAATCTTTTGTGGTGAAAAATCAAAGTCCTTACAATGGCCTAAAAGTTTCAATAAAATATGTCTCCCATTAACTGCCTAACTTTATCTCCTACCATTCAATCTAGCTCACATCATTCCAGCCCTTTACCAAGCAAGCTTCTACCTCAGGGCTTTTGCACTTACTGCTCCCTCTGCTTGGAACACTCTCTCTTTTTTTAAATAAAGATATTTGCATGACTTTCACCTTATGTCTTTTGGGGCTTTTATTTTAGATGACCACCTTACAAAAATTGAATTATCCTCCTCTACTGATCCCCTTTCCCTGCTTTTATTTATCCATATCCTAAAAATATTTCCTTCTCACATACTATAGACATTTTACTTACTTGTATGCCTTCTGTCACTATAAGCTACACAAAGACTGGAATTCTGTTGTGTTTTGTTCACTATCCACAGCACCTATAATTGTGCCTGGCACATAGAGGAGTAGGCATTTAGTAACATTTTCGTTGAATAAATGAATACCCTGAAAATTGGTATTTTTCTCATCGGAAACAGTTATTGCCTTTATATTTTGAAAGTTGATTCTGATGCCTTCTAAATCCAATTCAGCCTATTCGGACTGGCTGGTCCCTCCACATTAACCTAGAACTTCTCATTTGGCAAAGGCACCTTTCTGGAATGAATGAGGAGATCTCAGAAAAAGACAGAATTTTATTGCTTTCACCATCCTCTAAAGTCAGTGGTTCTCACATAGGTACGAATTTTTCTCCCCAGGGGATATTTGGCAATGTAGGGAGACATTTTTTGATTGTCACTAATGAGGGGGAAAGAGTGCTACTGGCATCTAGTAAGTGAAGGCCAAGGATGCTGCTAAACATCCTGTAATGCACAGGACAGCCCCACAACAAAGACTTTTCCAGTCCAAAATGTCAACAGCTCTGAGCTTGAGAAATCTGTTCTAAGGGGAGTGCAGAGGTTCTGGTCTTGGCGGCTCTGAAAGTTGTTTCAGATAAATGTTTTATTACTATCAGTGTTACACTATAAGTACTACACAGGCAAGAAGTGAGATGGGTTTATTCATTGGTGTGTGCTGAGCACCTTGTACAGTGCCTGAAACATAATGGGGTCTCAAAAATAATTGTTGAATGCATTAATGAACAGAGATGTCCTATTAAAACACTAAATATTATGTTGCATTATGCTGATTATTAAGCCTTGCTTCACTTCCTTTACTCTATTTTAAGATCTGATTTAGACCTATAATAGTCACGGCCCTGTGGCTTTCAGTCTGTTTTTAATTTCTACGAGAACAGAGAGGAAAATCATATGAGTCTCAGTCTTGTGCAAAGGCTCATATATTCCACTAAAATGTCTGCAGGAGAAAAAAATGTTTCCTCCTATGGATAAAACAGGAAATGAGTTTGGTTCTTGTAGAAACTAATGTGGTGAACTTGAGGTATTGGAATTTAGAGAATTATTTTTAGTTTGTTTTTGAATCCATTTTGGGGTAAATAGTTGACCAAAATATTTCCTTTTTTTGTTTGTTTCTTCTTCTTTTTTTTTTTTAACTAATATACTTGCTGATTTCGTCTGGACTTTTTTTCATTGCAGGCTTTGGATGAGTGCAAGCTGTATTTCTCAGCAAAGCTAATTTGTTTACCGTTCCTTGTCAGGGTTTTCTGTAACTGTCAAGTGTCTTCATTTAGCCATGTTTGTACATGTGTGTATATAGGGACAGGCAAATTGTAACATAAGCCTTCAGTTTTTATTTATGTAATGAACAAGATTATATTTAGTGTTCAGATAAGGTTTAAATGGGGGTTTCAGTTAATACCCAAAGTTATTTATTCCTATGTGTCAAGGGCAATCTTTCCCAGGAGACCCAGAAATTAACTCTTTTTTTTTTTCTTTAAGAAAAAACCCAACCCTAGAACCTAGGATTTAGTAAAACACAGTGAAAGTCTGAAGAAAACTATGGATTCTCCTGTTCCTCAACTCTTTTCCTATCACTGTCTTCCCAATTAGCAAAAGACTCCAACAATCAATCACCTAGGAGTCTGGCCCAGATCCATGGAGACGTTCCTGATTCCTCTCTTTCCCTCACACTCCACATTTAAAGCTTTGCTTTTCAAATATGTTCTGAAACTACCTGCTTCTCACTTCCTCCACTGCTGACTCTCAGATGAACCCTGCTCTCCCTCCTGAGCCTATAAATGGTGTCTCAGCTTTTACTCTTGCTCTCCTGCAGGCCATTCTCTACACCAGGGATCTTGTACCAACTTGTCATATGACTTATTTTCCCTGCTCAAAACTCTCTAAGGACTTACTGACACATTTAGAATCCAAACTCCTTACCATGACTGCTAAGATCCCATATGAACTGGCACTGCCTAATTCTTTCACTTTTTGTCTTTCACTGAGTTCCTTGCCCCTTCCACCCTAGCCGTCTTGCTGTTCCTCACACTATCCGAAGCTTGTTTCGAATTCGGGGCCTTTGCACTTGCTGTTCCTTTTGCCTGGAGTGCTCTTCTTCAAGATATTTCTGCCTATAGTTTCCTCACTTCCTTTAGGTCTCAGCAAAAATGTTGCCTCCTCAGAGAGGCCTTCTGTCACCTATTACCATAGCATGGTCTAGATGCTCTCAGGAGACCCCAAAACCTGTGAAACTAACTTGTGCTTGCAGCTGTGCTTGCTTACAGATAAGAAAGCAGAATGCCAGAAACTGCGAGTTAGCCACAAGACCAACTAAGTGCAGAAGTGCTGCCTTGACTTGAACTCTTGCATAGGTGCACTGAACTCATTTCTTGCTTCATTACCATACTAAAATCTCCACCCAGCAGGGAGAAATGTACCTTGTTAGGCACAAAAGGTGCTGGGTGCAAACAAAAAGACATGACTGCACACACTCTTTTCCCTCCTGGAAGAGCCCACGTTTTTCCAGGAATCCCTGCCCCAGTCTCCACCTACCTGTCCTGGGAGCCCTTTAAATCTCCCTCTACTTGACTTCCAGGGAGATGGTGCTTTGAGCACGAGCTCCCCTCCCCTTCATCATTCTTTGATCACGAGTAAAGTTTCTGTTCTGCTTTACTTAACCTGGTCTGGTTCTATTGGCACAAATGACACTGGGCAGGGAAAGAACCCATTAGGATCCAATAACCTCCTGGGAGGGTCAGTAACACTTCCTTTGCTCTTCTAACTTGCTTTGTTTCTCTTACCGCCCTTATCATTATATGAAATTATATATGTGTTTATTTCCTGTGTCTATCTTGATGCAAATTTTATGAAGGCAAAAACATCGTGCTGTTCATTATCTTGTTCTTTGTCCCTAGTGCCTAGAATTATGCTTACAACGTAGTAGATGCCCAATTTCTGTCAATTAAATGAATAAAGCTTGACCAGAATGTTCAATGATGACCTCAGGGTCCATGCTTGGAACTGCCCTGTAGATGAGAAGGCTTCTTAGAGCAAATTCTTTAGTTCTGCCTCCTATGCAATGGCTTACACAGATGGTATTATAATATGATTAAGGATGTGGGTTACAGAGGAGTTATCTGGAGTTTACTACCTATTGACTTACTTTGGAGAAATCTCTGTCTTCATTTTTTTATACTTATGAAGCACAATAAATATCATTACATTGTTTCTAATAAAAAGCTTTACTATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCTTCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCCTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGCAAGGTGGAGCTTGCAGTGAGCCAAGATCGCACAACTGAACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGCTTTAGTATATATTAATGTATTTCATTTTCATAAAAGTCATGTATTAGAGGGTTATTATGAAAATTAAATATATGTGAGCTTCAGAAAAATTCCTGGCACATTGTAAAATGGGCACTACTATTACAGTCCATTTCCATTATTCACACCTTCTGTATTTGCATATTTACCTACTCAAAATTTATGTGTATCCCCCAAATCCATGTGCGTGGTTTCTCGTAGTCATTTGAAGACATGAGCTGATATGGTTTGGCTCTGTGTCCCCACCAAAACCTCATCTTGTAGCTCCCATAATTCCCACGTGTTGAGGGAGGGACCTGGTGGGAGATGACTGATTCATGGGGCAGGTCCTTCCTGTGCTGTTCTAGTGATAGTTAATGGGTCTCATGAGATATGATGGTTTTAAAATCGGGAGTTTCCCTGCACAAACTCTCTTTGCCTGCTGCCATCCACATAAGATGTGACTTGCTCCTCCATGCCTTCCTCCATGATTGTGAGGCCTCCCCAGCCACGTGGAATTGTAAATCCAATACACCTCTTTCTTTTGTAAATTGCCCAGTCTCAGGTATGTCTTTATCAGCAGCATGAGTAAAATTGAGTTACTCATGTTCCCAGCTGAGGAAGGACAAGGTGACACTGCCTTCTTGTTTCAGCTCTCATACTGTAAACGAGTGTCCTTTTCACAGTTGATTTACTGCCATGTTTTTAACACTTTTGTGCTTTTTGTTGAAGATTTTGCCATTTAAAATGGCTCCCAAGCATAGTTCTGAAGTGCTCTTTGGTGTTCCTAAATGCAATAAGGCTGTGAAGTACCTTATGGAAAAAAATATGTGTTAGGTAAGCTTGGTTCAGGCATGGGTTATAATGCTGTTGGCCATGAGTTCAATTTTAATGAATCAACAATATATATTAAATAAAGAATTCTTAACCAGAAGCACACAATAACCAAGTAGACTGGTGGACCGTCTGAAAGTTGATGAAAATGTGACCAGAGGCTTGCACAACCCTAAGCCAGGATTTCTCTGAGCAGCAGTGAAAACAGTATTTGCTAATTCAGTGAATCTGGCAACTTCATAGAACACAAGTGCCACAGACAACAATAATTTAATGTACAGTTGTCCCTTGATATCCACAGGGGATTCGTTTCAGGACCCCTGAGGATACCAAAATCTGGGGATGCTCAAGTCCCTTATCTAAAATGGCGCAGTGTTTACTATAACCTATGCACATCCTCCCATACGATTTAAATCATCTCTGGATTACTTATAACACCTAGCACAATATAAATACCATGTAAATAGTTGTTATACTGTGCTGTTTTAATTATTATTTAATTAAATTAATTAATTATTTTATTTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGAGCAATCTTGCTCACTGCAGCCTCTGCTTCCTGGTTCAAGAGATTCTCGTGCCTCGCCCTCCTGAGTAGCAGGGGCTACAGGAGTGCACCACCATGCCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAATTGTTGGGATTACAGGTGTGAGCCACTGAACTTGGCCAGTTTTTATTATTTTTATAGTTGTATTATATTTTTCATGTTTCCAAATATCTTTCATCTGCTGTTGGTTGAATCTATAGATGTGGAACCTGTGGATATAAAGGGCTAACTGCAGTTCTCTTTTCACTCACCTATCAACTCCTTGAGATAGTGGTTTTCACTCAGCATTTTCATGTAATCACAATTCCTCCCTCCAAATATCTTATCATCTGACTCACATTTCCACCATATGACATTCTCAGAGAACCAGAGACGGGTTTGGCCAGACATCAGAACTAATGAGAAGGAGGGACTCCCTCAGGACTTTCTGTGTGTTTGTGTCTTTCTTCCTTCTTTTCCTTTATAGTTTAACTTTCTCTAGATATTTAGTCTACATGGCAGAGAGTATGGCTGCCAATAGCCATTGATTTTCACATCCTACCATCCAAATAACCAAGGAGACTGTCTGAATCTCTCCTCAGGCCCATACATCCTGAGAAAGCTTGAGTCAGGTGCCCCTGGCTGTGACTAGAACGTGTGTGTGGTACTGTGAAGTGTGTAGTATTCTGGCTACAACTCTGGGTGATAATTAAATCTACAACTGCATAGCCTAATACAGTAGCCACTTGTCACATGTGGCAATTTATATTTAAATATTAAGTAAAATTAAATAAAATTTAAAAATCTTCAGCCACACTGGTCATGCTTCCAGTGCTCAGCAGCCAAGTGTGGCTATTAGCTGCTCTCTTAGAACAGATATAGAACATCTCCATCATCGCAAGAAGTTCTATTGGACAATACTGCTATAGATGAAGAGGAATCTCTCAGAAAAGAGATTAGGGTTAGAAAGGAGTATTTCTTACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAAGATTATAAATCATGCTGCTATAAAGACACATCCACATGTATGTCTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCTGAATGTCCAACAATGATGGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAACATCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACACACTGGGGCCTGTTGTGGGGTGGGGGAAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAATAAAAATAAAAGAAAGGAGTATTTCTGAGCAGATAAATCTGTAGGTGTTTCTCATACCTTCTCTGCCATAGTCGATAAAACTGACCCAGACTCTTTGCAACAATTTCTTCCTCTGGCACTTAGAACATTTTTATATTCTCACAATTGCCCTGTGATTCTTCCCCTTTCAGTTTTCACCCTCCCCTAAGTATCTGGACTGTTCCTGTGTTTTGTAATACCACTGTATATTGCTGACTTCTAAATTTACATCTGTCTCAGACCCTTCTTCTTAGCTCCAGACCCACAGACCTAACTGCCTACTTAATATCTCCAATTGGATATATCAAATGTCACTTGGAATTAATACCTCACACTGAATTCTTAATCTATCCTAAATCTCCTTCTCTTTGCATGTCCCCCATCTCAATAAATGGCACCTCTATCTGCACAGTTTGTTATGCCAGAAGCCTTGGAAAAATCCTTGCTATCTTCTATCTTCTTTTGCCTCAGTCTAATATATCCCCAACTCTGATAAATTAAAGATTCAAACTATTTCTTTAATATAGCTAGATTTTTTTTCATTTTTATTGCTACCATTTAATGTCACACTCTCCTTTCACTTTGCTTCTAACATTTATTCAACTTTCTGTTCCTGCTCTAATGTCATCTTCTCACAGAACCCTTCCTTGTCCTCTGATCTGGATTCCACCTTTTACTGTCATCACACATTATGCTTTTGCTTTTCACAAATGTATTGGGTTACATATGTAATTATTTGTTTAGTGTCTAGTCTTCTCTAGCCTCATGTAATGTCTTCTCTAGCTTGATAAAGGCAGGAAATACGTTTGTTTTATTTTCCTGTGAATCTGCTGTATTTAGCACAGGGCTGGACCTTTAGCCCTCAGTCAGTACTTAATACCTTTTCAGAACACATTTTTATGAGCTTTAGAAACTAGTCTTCTTCCCTCTTAATGGTTATGGAGGTCTTTCAGGTTCTGTGTATCTTCTTATGGTTTCAGCTTTGACCCTGAGAATGACTCCCTTTCAATGTTACAAGACCTGGCTCCTCTTCTTGGAGACATGCTTGCAAAATTCACCCCTCCTTCCTGCCTCCCTGGTTTTCCCACAAGAATTCTCTTGAACTCACATGACTTCTTCCTACAGGAGATCTCCAAGCCTGCACCTCCAGCCCATCCAACCACAAAGAACTTTGAAACCTCTTAACCTGTCTTGTCATCTTAGTTCATGCAAATAGCAACCCCTAGAGATTTGTAGTGCACAGCCTGAACAACCACAGGGGCAAACTTCCCTTCCTGTCTCTGAAGTCTCGCTTTATCCTTATTGTCTCACCCCTAGAACTTCAAGGAGCCTCATAACTCATAGCCCAATCCCTACTCTTTCTGTAGACCCATTTTCGAAAATGCAGAATTGCAGAATTGTTCTGCCGGAAGACACCTCCAGAACATCTTACATATCTGAGTGTGTAAATGAGGAAACATAGGTTTAGAAAGTGGCAGGCTAGTCACTACAACCAAGACCTTCTAACTTTCTGTCTGGTGCTCTATGACACATACAGCCCCCACTGTGCTCAGAGGTCCTCATGGAGCTTCCTTTACTAAATGTAAAAGACTAAATTCATTTGCCTACAGTTTCCTTTTCTTTCCTTTCGATCACTTTATATTTTCTGAACTGCCCACACTTACCTTATGCATTTTTGCTGGGAGACCTTTGTTCTTCCTGTTGATCTTACCTAGAATATCTTTCTCTAGTTTTATCCTCTGTTGTGAATCTTGTGTTTCAAGCCTCAAAGCATGTCTGATACATAGCGGGCTTTAATGTATTTGCTGTTGAATGAATGAATGAAACATGTAATTTAGTCAATTTTCCCCATATTGACTGTGGCTAAATTTCTATTGACAGAAGTCAACAAATATCTACCACCATATCCTGAAGTTTGCACCAAAGTGGACAGTACTGAAAAATATGCACCTGATGTGTTTGACTCTCAAAAAGCAGTGATTTCTTAAAGCAGTTGGGAATTTTACCCTATTAATTGCTCACTTGGGTAACCATGCAGTTGATCTCCTCGACTGATCTATCTCCTGTCTTTCCCAAAGCAGATATTGATCCTGATTTTCTCTGATTTGAAGACTGACAAGTAGAGGCAGGTGAGAAAGGAAGCCTGTGGGAGACACAGGGAGAAAGGAAAGTCTAGAAAGACACTAGAAGGCCTGAAGAGGAGAAATTTATACTATGACCTCAACCAGAAACAGGTTAGAGACCTTAGTTCTTAAAAGGGAACTTGTATTGTAGGTATTATTTAAAATGTAAATTGAATCCAAGAATGATTTTAACATTTGGTTTCTGGTCACTAAACCTGGCAATAAGTATAAACAGTTTAAAATAATCACAAAGTCAAATGATTTTGCTAGAAAATGAAGATTTCTTGGTCCACAGCTTGTTGCACTGAGTATATTAACCTATGTTAAGAAGTTAGCTCCACTCTCTTTTAATGTAGTCTGCTAAATAATTTTTAGACATCTCTATAGAAATGAAATTTATTCAAAAAAAGGACACAAATTAGTTTGCAAAATTCAGAAATATAACTGGAAAAGCAAGCATAAAGTCTTACATTAAGTGGTTAGTTGCTTATCCCTTGTTGATGCCTATTTTATTTGAGAGATATCCCAGTTGTGCTATGCTAAGTTTTGAAGGTCTGTGTAGTCTTTAACTTGATCTTTAAAAACAACAGAATTTGAGTGAATGTCAATAAAACCAGTGAATTATAAATATTCTGTCTTCTAGCATGTTTGACTAGGGCTGCCAATAAACAAAATTATATTTCCTAGGACTTCAGGCATGAATACTAATCTATTGAATTTTAATTTAATATTCTATGAGGAACCTAGGAGAGTATCAACAATTTAGACATCTGTTGAGTTATTCTCAGAATAAAACTGGACATGTGAACATTTCAGGAAATGAAATAAAATTCTTAATGTCTTTGTATTAAAATGCAACATATATACATACATATATACACATATATTCACATATATATACATATATATATTACTATTATGACTTTTTACCTAAAAACCCCAGTTACTTGAATTAGCTATTAGGCACAGAATTATTCGACCCTGTCCCCATCCCTCTCCCATGCTCACACACTAGCTAGTATTTCTGATGGTAAAATTAATTCTTGCCACAGAATACAGGTCTTTACTCCCATTCCCCAAATGACCTAAAACCACTAAAATGGCAGAGTTTCATTCAACACTGCAGCTGCTATTTTGTCTCCAGCAGGATGATATAAAGATTAGGCTATAATCAAAAGCAAAAATTCTTGCATGTGCATTGCAGCTAGAAGAGCTCTCTTTATGCTATGTGCCTCTTCACAAATTACAAAGCAAATGATATAGGAGTGTAGCTCCTAAACTGGTCTGTCTGAACTGATAACACTGAATCACTAGTTGGCTGGGGTGTCCACCCAGATGGGAAAAGGAGGTGGATAAAAGGGAAATGAGGTTGTAATGTTGTTGACTTCAGGCCTCAAGGAAGAGACAGCTGTGGATTTTCTTAGGTGAGGAACAATGTCAGAGGAGAACATAATTCATTATAAGACTCATGGGGAAACAGTCAAATGAAGAAGCAACAAAGCAGCAACAAAACCAAACCCAAGTCTTGCCCCACTGTGCAGCTGCAGGACAAAGACAGAACAGAAGCCTGTAATTGGGGAACAAAGTGTTGTTCTTTCGGGCATTATAAAATGAAGCCTTCAGAAATCACTCAATCTTGTCATTCCAAACAGTTTGATGCATTTGTGAAAAAAAGTTTTCCTTTTTTTTTTTTTTGAAAGGAGTCTTGTTCTGCAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGTTCAAGTGATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTAAAGGCGCCCACCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGACCAGGATGGTCTCGATCTCCGTGTGATCCACCCCCTCGGCCTCCCCAAGTGCTAGGATTACAGGCTTGAGCCCCCGCGTCCAGCTGGAAGTTTTCTTTTCTTTTTTTTTTTCTTTTTTAGCAGTGTACACCTTTTAAAACTGCAATTGAGTACTAAATAATGGAGTAGTTTTGTTCAAAAGCAATATTTATTTTTCATGAAGATAAGAGGCATATTACATTCGCTATAGAAAATGCTATGAGAGGAAAAAGCTGCATGTTACCGATATGACAAAAAACATAAAAAACTCTACTTATGAAAGTGTTTTGCCCTATAAGAACATATTCAATAAAAGGCATTATTCCAGGTGAATGAGCCATGCGGAAATGTGGATTTATTAGGGTTTGTTTTGAAATGTAATTTGTACGGCCAGCTTTTTATTCCTTTGATGGCTATCAAATAGATTTATTGGCTACATGTTAGAAGTGCAAAAGATAACAGGTAACCAAGGGAGAAGTTTTAATAAAACTCTCAGGAAAGGCAAAGAAAAGTGAGTGAATATGCCTGCTTACATTTCAGCTAATAAATAAAAAGTGCAGATAGGGCTTTAACTGAAAACCTTGCTGGTTATTGCAGCCTGGAAGGTTTATTGAAAACTGGGTAGAACACTCTCATTTTTTATATTTACAGCTACATTGTGAGCTGTTCAGGTTAGAGTGATGTAACGTTCATTTTGACTTTGGTACAGGAAACTGATGTTTTCACAGGAAACTTGCAAAGCAGTTATGAAGAGGAAGAGCGTTCTTAATTATTAGTGTCTGCCTGAGCTATTTCTGATTGTGTTCTGGGATTTTAGAGAATTGAACAATAGAGTATTTAATTTTACCACTCCCCTCTTGAGTAAAAACATCAGACACTTTTAGGAAAGTTTTAGAAGGTACATCTTCAATAAGCAGAGATCTTTCATCTCAAATAACTGGGAAGAATTGCACTGCTTAAGAATAGTTGAACTTGGACCTGAGAGCACCATACTTAGAAATCTAAGTATATTTAGGTCACTCATCTAACACTGGGACTTTACCAGCCCTGTCACCCAAACTGGTTGTAGTTAGTAGGACCACAAAGTCACTGAAGAAATCTGCTTTCCTTTTAACTTTCAAGGCAATAAGAAAAATGTAGTTCTCTGTTAGCAGTCCCTGAGCTATCTGAATTTCGGTGTTTCTCTCTTAAGCCTCTTGCTTTGGAGGATGATGAATCATTTCCTACTCCTGGAGTTAGTCTCCTTTAAAACAGACACAAAGGAGGCAGAGAGAAAAAATTACTCTAAATACCATTAACCAATGTAAAACAGTTTTCTATTAAACAGTAGGACAGCAGGGCCAAACTTGTGTTACCACAATTGACAACTGGCTTCTTAAAGCAAGCTCCATAGATTAAGAACCATAGCCTCTAGGACTGATTTTACTTGGTTCAGAAACAGGAAATCAGAACAGTGAGCAAGTATACGATTAGAAATTTACATTAATAAAATGTGATTTTTTTGATACACAAAAGCTTTTAGGTTGTAAATAATCTATGATGGCCTGCCAAATATAAAATGCCATTATAAATCCATGTCTATATTTCAAAAAGACGGGAACACAAAAGCAAGATACATTAAATTAATTGGTGTAGTTTGGAGAGTTCGAATCCATTATTAGATATGGATCCTATCAAATATCCCACCTAATTTCCAGTTACGTCGATGTTTCAATGTTCACTTTTTAAGTTCTCAACTACCCACATCTTTCACTGAACACCATCTGGAAAGGTTCATACAGAATGCCCATGCCATTCTTGAAAGGATTTGCTTTTGTGGAGGGGTTTTGCAAAGAAAAACAATTCAAAATTCTGTTACAGCTTATACATTGTCTTTTGTAGGACTATAATAAAAAACCTTCTAAGTAAGTTTTTGAGATAGGTGTTAAATGAATAAGCATGCCTCAGCAAAATGCATAAAAAACACAATGATTTAATTTCTAAAGCACTTATATTATTATGGCATGGTTTTGGAGACAGGTTATTATAGTCCACATAGGTAAGTATGCAGTGCTTCTCATGGAAAAAATGCTTAGGTATTGGCCTTTTCTCTGGAAACCATATTTTTCCTTTTTTAATAATCAACTAAGATGTATATGTAAGAAAGCCTCATCTTTTGATTTTTAATATACAAGATGCTTTCTTTAAGAGAGCAAGATTCAAAATTGTTTTGTGTTTCAAAATTTAAAAATAAATTTATCTCCTAAATTTTCTAAAGACATGTTTCATATATTTGACCATCCCTTATTTTGGCAAAGGATTTTAAGAGTCTAACTCAAACATATGTAAGCTCTGGTGTACCTGGTTATATATACCAAAAAAAACATTTGATCTATATACACATAGACATGAATATATTTCTGTGTGTGTTTGTGCATATATAACCTCAAACACTATTATTAAATGCAATCCTATATTCTTAGGTATAGAAGTTGATGATATACCTTTCTACTTGCCATGGCATTAACAAAGCAAGGCTGAGACTCAGCAACCACTTGTGTTCATTGCATTGCAGGCTAGTAGTAAGTTTGGTTGCTGGTAGGAAAAGGGTCTCTTATCTCACCCTCCTTAAACTAAAGGTTCTTTCAGGCTTAATGTAAGGATGTGCACATTCTCTTATCGAGGTGGTCTTGAGCTGCAGATACAATCACATCGTTCATGGTGATCCAACTGGATGTCAACTAGAGCCATGGTCTTAGCTCTACCCCTCCTCTTGATGTGGCCAGGCTCAAACTGTAATACCTAGGACAAGAAGCACATCTCCTGTTAGAAAGCCTTTGGAGTTCAACTCAGTCAGATGCCACCTACTTATTACCTTTTTGACAACTAGTTCTTAGCCCTTTGAGAACCCAACAGAAGCTATGGGCTTGCTATTAGAATGCACACGTTGCTATTAGAATGTACACATTTTTCAAATAATTGACTCCCTGAAGTGGAGGAATCAATTGATCCCAGAGTAATGCCCAGCATAACTTACCTGAAGTACCCAGATGATTTCATGTGTCTTAGCAGGTATTTATTAATAGCTTTCTAAGGGCCTGCTTTGGGCCAAGTACTGTTCCAAATATTATCGTAAAGATCCTTCTGACCAAGGCATGTGTTATAGATGAATACAATACTTGAGCATATTATTAGCATGGAGAGGAAAATGAATACAACCATGAATAAAATATGCTGGTATATCTAAATCTTTGGTTGAAGTAAAACATGTTGCCCTGGAGTTGCTGGCAAGATGGCCGAACAGGAACAGCTCTGGTCTGCAGTTCCCAGCGAGATCAATGCAGAAGGCGGGTGATTTCTCCATTCCCAACTGAGGTACCCAGTTCATCTCACTGGGACTGGTTAGACATTGGGTGCAGCCCACGGAAGGTGAGCTGAAGCAGGGTGGGGTGTCCCCTCAGCCGCGAAGTGCAAGGGGGTGGGGGATCTCCTTCCCCCAGCCAAGGGAAGCCATGAGAGACTGTACCAGGAGGAATGGTGCACTCTAGTCCAGATACTGCACTTTTCCCATAGTCTTTGCAACTGGCAGACCAGGAGATTTCCCCCAGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGCGGCCATTTGGACAGACACCGAGCTAGCCGCAGCAGTTTATTTTTCATACCCCAGTGGCGCCTGGAATGCCAGCAAGACAGAACCATTCACTCCAGGGATCCAAGTGGTCTGGCTCAGTGGGTCCCACCCCCATGGAGCCCAGCTAGCTAAGATCCACTGGCTTGAAATTCTCCTGCCAGCACAGCAGTCTGAGATTGACCTGGGATGCTTGAGCTTGGTGAGGGGAGGGGCGTCTGCCATTGCTGAGGCTTGAGTAGGCGAGGCGGTTTTACCCTCAAAGTGTAAACAAAGCTACTGGGAAGTTTGAATGGGGCGGAGCCCACCGCAGCTCAGCAAGGCCGCTGTGGCCAAACTGCCTCTCTAGATTCCTCCTTTTTGGGCAGGTCATCTCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGACTTATAGATAAAACCCCCATCTCCCTGGGACAGAGAACCTGGGGGAAGGGGTGGCTGTGGGTGCAGCTTCTCAGACTTAAACATTCCTGCCTGGAGGCTCTGAAGAGAGCAGCGGATCTCCCAGCACAGCATTTGAGCTCTGATAAGGGACAGGCTGCCTCCTCAAGTGGGTCCCTGACCCCCATGTATCCTGACTGGGAGACATCTCCCATTAGGGGCCAATAGACATTTCATACAGGAGACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGCAGCAGAGCGGCCTGACTGTTAGAAGGAAAAGTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATCCACTCAGAGACCCCATCTGAAGGTCAACAACATCAAAGACCAAAGGTAAATAAAACCAAAAAGATGGGGAAAAACCAGTGCAGAAACACTGAAAATTCCAAAAACCAGAACTCCTCTTCTCAACCAAAGGATCACAACTCCTCGCCAGCAAGGGAACAAAACCAGATGGAGAATGAGTTTGAGGAATTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCCGAGCTAAAGGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGATGAATTGCTAACTAGAATAATCAGTGTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAACGCAAGACAAGAACTTCATGAAGCATACACAAGCTTCAATAGCCAAATCGATCAAGCAGAAGAAAGGATATCAGTGATTGAAGATCAAATTAATAAAAGAAAGTGAGAAGACAAGATTACAGAAAAAAGAGTGAAAAGAAACAAACAAAGCCTCCAAGAATTATGGGACTATGTGAAAAGACCAAATCTACATTTGATTGGTGTCCCCCAAAGTGATGGGGAGAATGGAATCAAGTTGGAAAACACTCTTCAGGGTATTATCCAGGAGAATTTCCCCATCTATCAGGGCAGGCCAACATTCAAATTCAGGAAATATGGAGAACACCATAAAGATACTCCTCGAGAAGAACAATCCCAAGACACATAATCTTCAGATTCACCAAGGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTTACCCACAAAGGGAAGCCAATCAGACTAACAGCGGATCTCCCGGCAGAAACCCTACAAGCCAGAAGAGAGTGAGGGCCAATATTCCACATTCTTAAAGAAAATAATTTTCAACCCAGAATTTCATATCCAGCCAAACCAAGCTTCCTAAGTGAAGGAGAAATAAAATCCTCTACAGAGAAGCAAATGCTGACAGATTTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACCAACATGGAAAGGAACAACTGGTACCAGCCACTGCAAAAACATCCCAAATTGTAAAGACCATTGATGCTATGAAGAAAGTGCATCAACTAACGGGCAAAATAACCAGCTAGTGTCATAATGGCAGGATCAAATTCACACATAATAATATTAACCTTAAATGTAAATGGGCTAAATTCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAGGCCCATCTCACATGAAAAGACACACATAGGCTCAAAATAAAGGGATGGAGGAAGATTTACCAAGTAAATGGAAAACAAAAAAAAAAAGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGCATCAATGGAACAAGAAGAGCTAACTATCCTAAATATACATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTTCTTAGAGACCTACAAAGAGACTTTGACTCCCACACAATAATAGTGGGAGTCTAAATAATAAATAGACACTTTAACACCCCACTGCCAATATTAGGCAGATCAATGAGACAGAAAATTAACAAGGATATCCAGGAGTTGAACTGAGCTCTGGACCAAGCGGACCTAATAGATATCTACAGAACTCCCCACCCCAAATCAACAGAATATACACTCTTCTCAGCATCACATTACACCTATTTTAAAATTGACCATGTAATTTTAAGTAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCCTAACAAACAGTCTCTCAGACTACAGTGCAATCTATTTAGAACTCAGAATTAAGAAACTCACTCAAAATCACACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTAAATAACAAAATGAAGGCAAAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGACACAATGTACCAGAATCTCTGGGGCATATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAGATGCCTACAAGAGAAAGCAGGAAATATCTAAAATAGACACCTTAACATCACAATTAAAAGAACTAGAGAAGAAAGAGCAAACAAATTCAAAAGCTAGCAGAAGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACAAAAAGCCCTTCAAATAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAGCAAAATAGACCACTAGACAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAAGAGATGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTATTATCAGAGAATATTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACACATATGTAGCCTGTATGGACCTTGGGGGACAGAACAAAAGGGGGTGAATGCAGAAATAAAAGACAAAGACAAAAGAGTATGTTTGGAAGTAGGGGTCAGGGGGCAACTTGCCTCTAATGGACAAGGGCCCTGAGCTTTACACCACCCTCTGTATTTATTAGGCAAAAGAGATAGCGAGAGGGTGAGTTGGAAGAAGAGGTCAGCTGTTAGGTCCAGAGTAGGCCTGCAAGACTGCATTCCTCAAACAATAGGCTCTAGATGTCCCAGTAGATAACCTCAAGGAGCCAGTGCCAGGGAGTGATGGCCCTCAGCAAACCTTCTAGGGCAGGCACAGAAGTAAGTTTGCCCACATTCTGTATTCACGATAAACAGTTTGCTGTTTGATCAAGTAGCCTCCAGTGGAATGCTGAGTTGGTCATGATCCCTTTGGCCTTTTTGGCTCCCAAAACACATACACCCTCTCAAGACTAAACCAGGAAGAAGTCAAATCCCTGAATATACCAGTAACAAGTTCTAAAATTGAAGCAGTAATTGATAGCCTACCAACCAAAAAAAGTCCAGGACCAGACGGATTCACAGCCAAATTCTACCAGAGGTACAAAGAGAAGCTGGTACTATTCCTTCTGAAACTATTCCAAAAAATAGAAAATGGGAATCCTCCCTAACTCATTTTACGAGGCCAGCATCATCCTGATACCAAAACCTAGCAGTGACACAACAAAAAGAGGAAATTTCAGGCCCATATCCCTGATGAACATTGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCACATCAAAAAGCTTATCTACCATGATCAAGTTGGCGTCATCCCTGGGATGCAAGGCTGGTTCAAAATATGCAAATCAATAAATGTAGGCCATCACATAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTTGTCAAAATTCAACAGCCCTTCATGCTAAAAATTCTCAGTAAACTAGGTATCGATGGAATGTATCTCAAAATAATAAGAGCTATTTATACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAGAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAGATACTATTGGAAGTTCTGGCCAGGGCAATCAGGCAATAGAAAGAAATAAAGGGTATTCAAATAGAAAGAGAGGAAGTCATATTGTCTCTGTTTGCAGATGACATGTTTGTATATTTAGAAAACCCCATCGTCTCAGGCCAAAAACTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGACACAAAATCAATGTGCAAAAATCACAAGCATTCTTATACGCCAATAATAGACAAACAGAGAGCCAAATCATGAGTGAACTCTCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAGGGACACGTAGGAACTCTTCAAGGAGAACTACAAACCACTGATCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATTCCATGCTCACAGATAGTAAGAATCATGAAAATGGCCATACTGCCCAAAGTAAATTATAGATTCAGTGCTACCCCCATCAAGCTACCATTGACTTTCTTCACAGAATTGGAAAAAACAACTTTAAATTTCATATGGAACCAAAAAAAGAGCCCACAGAGCCAAGACAATCTTAAGCAAAAAGAACAAAGCTGGAGGTATCATGCTACCTGACTTAAAACTATACTATAAGGCTACAGTAACCAAAACTGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAACAGAGACCTCAGAAATTACACTGCAATCTACATCCATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGAAAAAGGATTCCCTATTTAATAAATGGTGTTGGAAAAACTGGCTAGCCATATGCAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAGTTAACTCAAGATGAATTAAAGACTTAAATATAAGACATAAAACCATAAAAACCCAGAAGAAAACCTAGGCAATACCATTCAGGATATGGACATGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAGTGGGATCTGATTAAACTATAGAGCTTCTGCACAGCAAAAAAAAACTGTCATCAGAGTGAACAAGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCGATCTGACAAAGGCTAATATCCAGAATCTACGAAGAACTTAAACAAATTTACAAGAAAAAAACAACCCCGTCAAAATATGGGCAAAGGATATGAGCAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAAAACCTCATCATCATTGGTCGTTAGAGAAATGCAAAACAAAACCACAGTGACATACCATCTCATGCTAGTTAGAATGGTGATCACTAAAAAGTCAGGAAACAACAAATGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTCCACTGTTGGTGGGAATGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGAGATTCCTTAAGGATCTAGAACCAGAAATATCATTTGACCCAGCAATCCCATTACTGAGTATATACCCAAAGGAATATAAATCATTCTATTATAAAGACACATGCACACATATGTTTATTGCAGCACTGATCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAGTGATAGACTGGATAAAGAAAACATGGCACATATACACCATGAAATACTATGCAGCCATAAAAAGGATGAGTTCATGTCCTTTGCAGAGATATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCCAACACCACATGTTCTCACTTGTAAGTGGGAGTTGAACAATGAGAAGACATGGACACAGGGAGGGGAACATCACACACCAGGTCCTGTTTGTGGGTGCGGGACTAGGGAAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTGATGGGTGCAGCAAGCCACCATGGCACATGTATACCTATGTAACAAACCTGCACATTCTGCACATGTACCCCACAACTTAAAGTATTAAAAAAAAAACACACAACATGTTGCCCTGATGAAGGTCATTAGTGGCCATAAATAAGTAAAATGTGTTTTATGTTTTTATATATTTGTTAACATATAATATCCTTTACCATTTAAAACAAATCAGGTTCCACTAAAATCTTTGTATATTAATACCTGTGTATCAATACAGCATTTCTTAAATCAATAAGTATATCATTAATTTTTAAATTCATAAGTTTAAACATAATTTCTTAAATTAGTAGTTAAATAGAAGCCAACCCTTCTTCCCTGCAGTGGCCTTCATTTAGTGAAATATTAGCTATTACATAGACATATACTTGGTAAAATTCCATTCTTGTTTTCTAATATACATAGTCAGATTAATATATTATTTACTTTATGTTCTTAGATCCCGGTTAGCCTTTATTTTTGATTTTGTCCCATTTTCCTTTTAGATTCTAAACTTGGTCATGGCACCATTAAACAATTCTATAGCATTTTACAGTTTTTGAATAATTTGCACAGGCACTATTTTTTTTTTTCTTTTTACCCTCAGACAAATCTTTCACATGGTGGAAAAGGTATCATTATGCCCACTTTATACTGAGATTCTAAAGGAGGATAAGTACCTTGTCCAGGGTCTTCCCCTGACTTGGACCTGGGACCAGGACCTGGGATCAGGACATTTAAGCTCCTAGCATATTCTGACTTGAGGCCTCTCTAACATGCCTTCAATTTCCTTTTATGTCTCAAGGGTGTGTCTGGCTCCCCATGTGAACCGGCAGGGAGACCTGTGATGCTTTGCTTGAACTTTTGTCCTAGGTGAAAGTTAGATGCCTGGAGTCCCCTGCACTCATGCATCACGGTCTGCACATTCCTTTCATTTAGAATTTTGCCATGCTGTTCCATAGACGGTCCAGTGAGGCAGGGAATAAATCACTGCATTTGTTTAATGTTCAATCAAGTTAGGGCACTCTGCTGATGCAGAATGGAAGATGGAGATCTGTTTGTAGAAAAACTTCAAAAGACTTGTCAGTACAAAGTTGGCAGGGGGTGGAGGAAGGAATACCCTAAGAAAGTTCTTTAGGGAGACAAAGTGTCAGAAATTTTGATATTGGTAAAGCTAGTCCAAAGGCCAGTTTTGATAGTTGATTCTATTATCATCTCCTGCAATTCTATTGCACTTACAATAGGTACCTTGGAAGGGGTTGGGGTTTGGACTCCCATAGCTTTGCCAAGAATTTCTCCAAGATGAATTAATTGCTATTTTCCAAGACTATCTGGCCTGTAAAAGAGATTTGAGAACTAGGGGATGCAGGAGAGGGAAATTATTTCTAAGAAGCTGAGCATATGATAAATATTCCTTGTTTAAAGAAGACTGTTATCAAGGCCTAATAATTTGTGATGACTGGCACCTGTAAAATCAGAGCTTTGTCGATTTGCTTTCTCATTTGACGGCAAACAAAAGTGTGTGCTTTGGGATAAGAGCAAGAGCCTGGGCAGTTTTTCTAACTGGTCTTCTGATTGTTCAGGGATTTTCTCTGTGTTTTATATTAAGCAACGTGAGCACGGTATATATGTGTTTTGCTGATAAGAAGAGAAAAATGAATTGGCAGACACCTTTTCCCAGACAAGACAGGAGAGCACTATTTGAACAAAGTGGAAATTGGACTGCCTTACTGGATGATCACAGCACTGATGTTCAAAGCTTTCAGATCATGTAATAGTCTTAGGTTCAGGTACACAGCATTGAAAGAAGGAAGAAAGCAAGGCTGATTTGAGGGCATGTAGAAAAATGAAAAGCCTTTATCTGAGAAAGCAAACTGGCGGTTATAGGTTATCTGGTCACCTTTAAAGGGAAGGAACACTGAATTAATTATAGGAGCTGAAGGGCACTTGTTAATAGGTACCCTCACACAACACTTTCTTATTTTCTGAGCTATGATTCACAGCTGGAAGCACACAACCAGAAATAACAAATCCACTGGCGGGCAACCAGCATTTCTTAACACCTATGGGTGCAAATGGGGATCTTGACTCCTCTCCACTCTGGAAAACCACACAAAGCCAGGGAAACTTGACGTCTACTAAATGGAGTGTGACTGAGCCAATTGGTGGGTTTCATACCACCATACAAAATCAAAGATGCTCAGTTTTGCAAATTACCTCATCACAAAAGATATTTAACTACAGTTACTCACCTTGTTGCCAATAAACGTCTGAATAAATCTTCACCATAAAGCTATTTACACTAATAAAACAATACCAGGCAGAAAAGCTATCTGCTGAGTCTGGTTCTTGTTTATTGAGAATATAAAAAAAGGCTGTTAAGGCCTTGTAACAGTTCTCAAATTAATGGCTGACTTAGGAACACAAGTACGTATTTCAGGACAAATGCATTATATAAACCCAAATCATTAAGAGTTTAAGATTCTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCAGTCTTCTTGCCCAGGCTAGAGTGCAATGGTGTGATCCCGGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCGGTCTCTTCCTAACTTCTAAACCAGGCTGTTTTCAGCACACACAGTTTCTCAAGGAAAAAAAAAAGCTTCTCTTTTGATCTCTTTCATGCTTATAGCCTTTATAAAAAATGTACACAGAGTCAATATTTTTAAGGGATGCTAGTGAATTATTCTGAAACCTAAGTGACTACAAGCAAAAATATCTTGAGAAGGGATAACATATTATTTCCTCCCTGAGTAATTACTCAACCTGCAGGCAATAATCACAGCAGTGGCTGGCATTGTAACAGAAGGACTGATATCAAGTCCCAAGACACAGTACTCAGTTAAAAAGACATAAATGACAAACAGCTCAACAGTGTTATATTAAGAAGTTAAGCTTGAAGGTGACAAAAAGCTGGGTTATAGTGGGAGTTTATAACATGCTCATGAATTTTGAAAATGCAATCATGATATCTGTGCATATTTACTTCAAATAGATGCGTTCTGTGAGACTCTAGGGTTACTATGAGGTGTACTCAGTTGCAGTTTTAACTTTACAGAACTAAATAGTTAAATGATTTTGACAGCACCTTAGAGGATTATTGACTACATGTTCAGCCTACCAATTGCAGAAAACATAATGGAAAGCCTGGGTGGGCACTACATTTCAGAGCATGGCATTAGCATTGGGTATCACTCATGACACAGATGGGCCTTGTCTGCTTGGGGAGTACCTTGCCCCATGTGGCAAGTTTGCCGCTTTGGCAGGAAGGCCTGATGTGAAGCTAGATTGAGAAGGGAGAAGGTGTGCAGTTTGTAATACTTAAACAAGGAGTTCACTAACTTGTAAGTGAGTCATCAGGGAAGAAATGTAATCAGAACTGAGAAAGCCAGACCAGGCTCTCATCTAATTCCACCCACATCTGTCTTGTACTTTATAGTCTTCAGATGCCTTCATTCACCCAGTATCCCCAGGTGGTAAGAAGCACATGTGTTATCATTGCCATTGTCAAGATGAGTGAATTAACTTTTTTATAAGCAGTCTATAAACATTTACTGTTCTGGATCATATCTTTATTCTTTTTGCATTTACCTAGCATTTCAACCACCAATTTGTTTTTATTCCTTACACAATTTCATTAAGATTTTGGGGGCAGGATAAAGTGTAACAACAGATAATGAATATGATGTAATTTCAGGTTTGCCTGGGAACTCAAAATTGTAGGTTATTATGGGGATTAAGTGAGGAAACCTGAGGCCCTGGGAAGTTTTAAGTGGCTGGTCCTCAGTTGCCCCTCCATGTGGCAAAGCTGGAACCAGAACCCACATCTTTTCTAGTCCTGCAAGTTTTCTGCTCTATTGCCCTCTCTTGGTAGGAAAACATCACAGACCATGAGGCTTCACTTAAAGGTGGAGAAAGGACAAGAGGCAGAGAGACTCCACAAGTTCTAGCTATGAGGTTTCCAAAAAAATAACAGAAAAGAGATTTTCTTGACTTTTATTATGGTTAGGTATAATCATGACCCAAAAACTCCCTCCCTATTGCTAGAGAAGGAAAACTCCTTGCGCGAAATTTATTTTCTGTTTCTTTGGTCTCAATTTGAAAATTTAGGTACTTTTTTTTCAATAACAGACGTTTCAAACATGTAAAAACAAAGTACTATTCTTTTACCTCAAATCTGAAGGTCAACAGTGTATTACTCTAACCTCATATTTCATGTATAAATACAGATGCTCGTTGACTTATGATGGGGCTATATCCTGATAAACCCATTGGAGGTTAAAAATATTTTAAGTTGAAAATGCATTAATACCCCCCCATAAACCCACTGAAAAGTAAAAAAAAAAAAAATCTAAATCTAACCATCATTGAGGATAATCTGTACCAATTTATTAATACATCTCCTAACTCTTAAACTGTGATAAAATGCAAATGTTTAATACAAAATTCTACCTTAGAACAAGAAGAAGTCATTTTTTTTTCATTTTGTCTAGATGTCTAAGTGATTCTAGATGCTATAAATGTGCCAGAATCAGAGATAGGTATAGGCTTGTGCCATTCAACAAGGTAGTCACGGCCTTGTGTGGTAATTTAAATTTCAATTAGTTAAAACTAAATAAAATTAAAAATTTAGTTTCTATTTGTGCTACACACATTTCAAGTGCCCAACAGCCACATGTTGCTAGTGACTACCATATGGAACATTGCAAATATAGGTTATTCCTATCACTACAGGAAGATCTATTAGACAGTGCAGGTGGTTAGGTCAAGCATCCTGAGAAAATTATGAGAGGAAGAACAGAGGAAATTAACATCTATCTTTATCTCTTTGATGCTTCCTATGTTTTTGGCTGTTGACTAAATGGATACAGCCAGGGCACCAAATCATGAAAAACAGTTGAGTAATAATTTAATAGGTCACTATACTTTTAGGAAATATCCTCTTCCTTCATTATACACTATCAAGAGAAGAGAACTGAAATAATAGTTTCTTCTAATTGTCTACACAATACGTTTTTCTGGAATCCTCCCTTTAACAAAAATCACTACCCAAATTATCTTTTATATTCTATGATGGGGTTCAGGACACTGTACTCCCAAATGTTTTAAGCTGAAGGAATTTGAGAAAACAAGAAAAGCAGAAAGATCACTCTGACCTTCCCCTCACCCTCCATCCTGAAGGAAGTCATAAAACCTAGGATTTTCTGACCTTCCCATGTAGCAAGTCATAAGACCCTCATGCGAGAGGTGCCCCTGTTATACCCAGAAGAAAGAAGAATTCCCCCCCGCCTTTTTGTTTGAGATGTGGTCTTACTCTGTCACCCAGGCTAGAGTGCAGTTGCATGATCATGTTCTGCTGCAACCTTGAACTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTCAGACCACAGACACATCCTCCACACTTGGCTACTTAAAAATAATTCCTTTTTTTTATTATTTATTTATTTTTTTTTTAGAGATGGGGGGGTCTCGCTATGTTGACCCGGTTGATCTTGAACTCATAGCCTCAAGGGATCATCCCACCTTGGCCTCTCAAAGTGCTGAGATTACAGGCATGAGCCACTGCTCCTGGCCTAAGAATCCTTATCTCCAAAGACAAAGGTAGAACAAATAAGAATCTGAACAAACAGGCCTTGCTAATTTTCCCCAGTTTATTACCATTAGATCATACTCTGCCCTATCATATTTCTCCACAACTATCCACACTTTATCAAACTTACTGTAAAAAATTATCAGGTTGAACCACTTTTTTGGGTCTTCCTTACCAAGGCCTCTGTGTCACGTAAAACATATTCAATAAATGAGTACACTTTTCCTTTGTTATTCTGTCTTTTGTTATAGTGGCCTCAGCCATGAACCTAGGAAGGGTGGAAGAAAAGGTATTTTTCCTACTCTATATCTAGTATATTCCAAGAAGCATAGAATGATTGTTTAGAAAGAGGAAAAATACTTCAACAGGGTACCTACAAACTTTTGAGAGCAAGAAATAATAAAGACAGTCACATTTTACTGCACAGTGAAAACCGCTCAAAACCCTACAGGACAACTAATATGACCTGTGAAAAAAGCAATATTAGCTTCGTTAGAAGCTTTCCAGTTTCCCAGATTTAAATTCCTTAAGGTTGAGCACTGAAATATTTGTGGAGAATCACACAAGCCTGTTATGTGACAAGGTCTCATTACCCCCTTAAGGGTGCTCATCTTTCACAGAAACTCATTTCACATCTCATCAGTTGCAACCATGAGCTGGGGAAACTGGTTTCTCATTTCTCAGAGGTAAGAATACAGACACAGAATTCAGAATAAAGGACTAGAATTTTTCCCTAATGAGACTAGGCTCAAGCAACCCCCACTTCTGGAAATGGAATAAGCCTTTTGCTGTTTCCCACAGGGCACTTGACAGTGATAATTGTGACACATCTCAAAGGTATTTCAGGAGTCTCAGGGGCATATGACAGGAGTGTTTGTTCCAGGTAAGCAGTTACTGGCTGGTGATGGATGTTTATTTTTCCTTTCATCCAGCACTTGACAGAGTGATTTTATAGAGCTTTGCAGAGTTCTAGAAGTAAAAATATTAGGACACATGTCTTAAAGAGATGCTTTAGATACAGTTTCAAAGGATGCCAATGTTTCAAATCCACTCATGCGACTGAACAAAGAGATCAAGAGTTTTCCCCTCTACACATTAACTGAGAACAGAAATTTGCAAGTAATGGTTATTGTGTAGAGAGATAAGAAAGGAACTAAGAGGAGGAGGGTAGCCAGGCCTTCAGTGTTCTTCAAAACTAACTGGCTGGGAGGCAAGGGTCTTTGGGGGTCTATGGTTCACTCTGCTCTTCCCACAATAAGTAATTTTTTAAATCAAGCTAAAAATTCTATCTGAGCATAGAGTCAAGATAAAAATAAAGCACTCCACAAATACATCAAAGTCCTGACCTTGAATGTTCTTCCTCACAGTTACTACTAGGTAGAGACCTTGTCACTTCCTAGATTATTTTAACTATAACCTGATTACTGCATTCTGCATTTATCCTTGGGGTATGATTAAAGGTTATAAAATTCAGGTTCTTAGAAGTGAAGGACAACATCCAATCTAGAGTTCATCAGTTCATACAAAAATAAAACACAATGAACATAGATGATAGCATTCTCTAGATATGAGAACATTTTTTTTCCTTTGAAAACAGTGGGGTGGATCAAGCAATTCTTATGACTTAAGAAAATATGTTCCATGTAGGGCTAAAATAGTGTTTCCCTGTCTGAAGTAAGTATGGTCATGGTGGAACAATTTCCTACATTTTCCAAGTTGAAAATATCAATTATTACATACTCATTTTTGCTTAATCCAGAAGTTACCTCCTAACTTACTACGATTTTTGTGTTGTTTTCAGAATAGAAATCAAAACCAAAACACCACCACCACCACAAAAGCCTCCAAAAAACAGTTTTACAAAGCTGGAGATTTTGTTTAGAGAGAACTACCTATTCCTTTGTTGTGGTGGACACTTTTTAAAAATTATTATTATACTTTAAGTTGTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACGTAGGTATACACGTGCCATGGTGGTTTGCTGCACCCTTTAACCCATCACCTACATTAGGTATTTCTCCTAATGCTATCCCTCCCCCAACCCCCAACCCACCGACAGCCCCCAGTGTGTGATGTTCCCTTCCCTGTGTCCCTGTGTTCAACTCTCACTTATGAGTGAGAACATGTGGTGGTTGGTTTTCTGTTCCTGTGTTAGTTTGCTGAGAATGATGGTTTCTAGCTTCATCCGTGTCTCTGCAAAGGACGTGAACTCATCCTTTTTTAAGGCTGCAAAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATATGTGTGCATGTGTCTTTATAGCAGAATGATCTATAATCATTTGGGTATATACCCAGTAATGGGATTGCTGTGGACACTGATGGAGAGCAACTCAAACAGTAATTCCTAACAATGATGTTTGCTTCATATTTTAGTTTATATTTTAAAACATATTTCTGCATGATGTTTAACATCTTGCAAAATATATTTCATATGCATTATTTTATTTGACCCTCAGAGCAACTCTGGAAGGGGTTATCTGATATATTAATTTTTCAGTCCTATTTAAATATGTGAAAACTGAGTCAAAACTTTAGTGACTTGCATGTGTTTCCACAATAATAAAGTAATTAGAGCTGCTGCCTATGTCACGGAAGAGCTCTAACTCCTCTTCAGTCTACTCTCTCTCTCTCTCTCTATGTGTGTGTGTCTGTGTATATATATATATATATATACACAGACACACACACACATATATATATATATATATATGTAATTTTTTTTTTGAGATGGAGTTTCTTTTACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCACGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCGGCCTATCTTTTATGCTCAATAAAGTGCTATATATTACTAGTGATAAGAAAAACCATAGACCCTGGAACCAGTGGATTGGAGTTGGAGTCCTGGCTCTGTGATTTACTGACCAGGCCATGCTGGCCAACTTACTGATCCTCTTAGGGCTCAGTTTACTCACCTATAAAAAAAGAATAAAAATAGTGACATTTTTACAATATTGTTGATGGGGTGCTAAATGAGCTAATGATTACTTACAATAGTTTTTGTCAAGCAATAAATGCCATTGTTACTATTATTAAGGTTATTGTGCTCTTTAAGTTTTTGTTCCTCCTATATTCTTTTACTTTTGTCTATTTTTGCATAATCCAAGAGCTGATTCCCTGAGTAGCACTTAATAATAGTTAAAATAAACTGAGCATTTCCGGTTGAAACATACTTCATATTTAGAAAATAAAAAGATCTTTGACAATTTATATTTTGCTATCTTTATTGTGCCAAATTTATTAAATGATATAATTGAATTAAGGTTTTGCTTATGAGATTGTGCCGTCATATCCTGTAAATGAATAACATCATATTTCTCTTTTTTTCTGTCTTTCTGCAAGTAGGTCAAGCTCTGAAATTACTGTATCACATATTTGATTATATATTCTAACAATGTTGATGTTGATCCACATGGTGTATTGTTCAAATTAGAAAAAACAGTGCCTTCGTCAGGATAGGATTAACCTGTCATCAGGACACTTGGCTTGGCAAACCTAGTGTGGGTAGAATTTCTGCTCCTAATCAAACCCTGGCTGGGTGCCCTTGTGCAGTGAACAACCTGAACAACTGTATGCAATGGCCCTGTCTTCCTGAATCCTATAGATTAAGCATTGCAACAAGAAATCTAAGAATGACATACCTCATGATACTTTTTCACGGTTTTCCCTGAATTGCATGTGCAGGACCTCCAGTTGACAGTTCCACAGCCACAATTTCCTCCACAGCGCTGCACGAGGAGGCAACGTGGAAAGAAGACCACATTGGCCAACTTCAGCTCTTCTCTTATATTGACCGAGTAATTCCTGGGAGTGCAACTGTAACGCTTGGCATCATCATTGAGCCTATCCAGGTCAACTGTAAGCAAATACATGCACTGTGTAAGCAAACACAACAGTAAGCACAATTGCTCAGCATGTGTTTTGGGGAATAGAGTGGGAAGATTCTGTGAGGACAACTTTAATCCTGGGATTAAATCCATCCTCAGGCTCTCAATTACTGGGAACCTAAAGTAAAAGACCTAATTTCTCTCTTGATCCCATCTACCCTTTGAAAATAACAACAAAAACAAAACAAAACAAAAACCTTGGCTAAAATTCATGTCTTGGTTCAAATTTCCTTGCATCTTTTTTATGCAAAAAAAGTTCAGAGGAAAGAAAATGAAACATTTGGCAAATTAAAATAATTGCCTTTATCTTCAAAAAGACAAAATAAACTGCTTCTTCATTCTAAATAAATCCTGACTCTAAGCCATCACTTAAATATAATTTAAATTATATCTAGGACACATTAGAGACAACCACTGTATTATATTTACCTGGCAGTGAAATTTCACACATAAATGTAATAAAGAAAAGGGTTTTAGTTTTATTTTTAACTTCAAAGTTAATCAACATGTTAGAGAAAATGATTTTTTTGTGTGTGAATATGGTGCATATTTGTGCACTGGGTCCTAGATGGCAGTATAGCATAGTGGTTAAGTGCTTTGGAGCCGCAGTAAAGTTACAACTGCCTTCAATCACATCATGGCTATGTTTCCTTTTAGTTGGAAAGTTATTTAATGGCTCTGAACTTCTGCTTCCTCATCTATAACATGTAATCATTTGAAGAATTGAATGTAACGTGCCTGGCACTCAATGCCAGCTATTCTTACTAATCTTGATTCATCTGAATCTCCCCCTCTCACATTCTTTTCCTTTAAAGTCAAATGGACAAAATTTAAAAATATACTACGTCTTTCTCCCTCTTTATGTTTTCTTCTTTGGACATTATATAAATGATTATCAAGGGATATGGTCAGTGGGACTTCTATGAACTAAAAGCACCACAATATTTTCAAAGCTAAGTCATAAATATTTACTTGAATTCAATTCGCATTATTGTGTTACATAAATTAGATTTGATTTCGTGTTCTCCAAGTCCATCCAATTATCCATCCATTTGGCAGCCAAATCCTCTTATTGGTGCATACATACATGAGTATCTTCTCACAAGAACACAGTTAGAAGCAAGTCCTTTTGTCTGCACAGAACCCACCACCCTTTCCCAATGCACGCCCTTGTGTGCACCAGGCCACCACAGAAGGAATCCCATGAATGTTAGGCAGTTATCACCATGTTCATTCTAAACTCTAGCCCTGGTAAATGTCTTAGGCTTAAACTGAAACTGCTTAAGGAGAAGGAAGAAAAAAAGCCTTTGGGAGCAGAGGTCAAAAGTCAAGGACAGTGTCAGTAGAATGCATCTAAGGAAAATTGCAGGAACAAGTGTGGACCATGAGTCCACTAACCGCATCCCTGTTTGTCTTTTTATATCTACAACTGTGCTTTGATTCTCAAGGGCAGGGATTTATCCCCAATTGTCATACGCTGAGCCCAGGATACTGTGGGAACTAAATAAATGCCAAATAATCACTGTGCATAATTTATTGCTGTTTTTTTCTTCCTTTGTAAAGACATGTCATAACTTTAGCTATAATCAATCCAGATTTAAATTGAATGAACTCTGTCTTGGGAAAGGAACCATTTTATTGCTGCTAAAGCCCTGAAAATAACTGCAAGCAAAGCAGAAAGGATTACATAAATGGATTAAGAAGTGCAGCAATCATCCATTACAAGTGTCACCTTGAGATAAATACTGATGCTGGCCTGTGCATTCCTGGGCTTGTGAACAGGGCTGATGCAGAGGGCCAAATCTGCTGCTTGTGATAATGGGAAGATATTTGTCTAACACGGAGGACTAAAGAGGTACAATTAGCAGGAAGGGATCGTGATGTGTGAGAAGGCAGAGAGGGACAGGACGCAAGCGGCAACACTGAGTCTCTGCTTTCGTTCAGCCCTCTGCTGAACTATGTCATAACCTTACAGATATGACTACATTTAGTTGTTCCCCACCCATTTCAAGTGAGTATTATTTGCTAAGAGTTAACAGTAAATGGTAAAACTGGAATTGAAGCCTTTCCCCCTTTTGCTCCATAGTCTCTGTCACTTTAAGCAGAATAGAGGGATGGTCAGTAAGCCATTAGTTGAAGGAAGAAGACCAGTGTTATGAGGGCTGTACTGGACTTTCCTGTCTGATGTTGAACCAGGGTTGGGTGGTGAATGGCCACATCCTTATCTTCAGAAGACACCCAAGCCAAAGTACAGCATGCCTTCCCTATAGGAATTCCAATAAACTCCAAAGTGCCCTCCACAAACCAGGAGAAGGCATGTAAGCCTCATTCTATTTGAAACCAAACTCCTCACATTGTATAACTCTTTGACTAGCATTGGTTACTTTCATTTCTTACTCACCATGAGGAGATTCACAATTCTGTCAGTTTTATGCATCAATTCACTAATGTCACTAAGAACTGTGACCCAGTGTGACTGCTGTAGAATCCACCTGCCCTACATATCAGGCGATTGAAATCACCGAGGCACTCAATTTAGAATTAGAACTGAAAGGTTGTTCTGACTGGATGCAAATAACTTCAAAGCGTGATTGCAGACTTTCTGCAGGGGATATTGAGTTTCCAGTCAAAGAAGACTGATAAGCCAGTGCAGCAGAGCAGGGAGCCAGACAGAGGCTGAGCAGCAATTAAGGTTTCTGGTGCTTGGGTTAGAAGGAGAATTCTAGAGTGAGACTTCTGGGAGGGAGACAGGCCAAGTGGTGTCAACCGAGAGAGAGGGGCTGCCCTTTCTGTTCCTGCATCAGTCTCCATAGCTGAACATTCAGAGCATCAAGGGTGTTCCAAATTTAATTCAAGGGCCCGCTAATTTCAACTAACGTCCCTTATTTCATCCCAGTCTACATCATGGAATAATCCCTCTTTTTCTGTCATTCTGAATTTTAGTTTTGCTTTATCAAAGCTCTTTGACATCAATTAAGTTTTTTGGGCCTCATACAGGCAGTTTTCTGGAAAGGCTGGGAAGGCTCCCCTGTCCTCAAAAACTTCCTTTGGACATACTGGTAAAGTGTGGGGTGCTGCACAGTGCACAGGGGCGCACTTTTCCTTCTGCAGCCCTGCCTCTAGGTGCAGCCTAATCACAGAGGTGCTTTGAGATGTAATAAGAATGCTGGGATCTGAGCTCTAGAATGGGGATGTGAATGCACACCCTTTTATAGTTTCTAATATTAGGTGTGGGAGGAAGGAGAGTCAACCTGTTCTTTTTGATCCTGGCCATCTAGACTACTAAGTGCTGTGTTCATCATGAGTGCATGAAATACTCATAAATGCTATGAATTACATACAATCATTACTCTTACTTTTGCAGTTGAGGAAACTGAGCCTTTCAAAAGTTAAGAAAAAAAAAAAAAAAACTTGTCCACAGCCATACAACCAGTCAGTGGTAGAGCCAGAGTTTGAATCCAGGCCTCTTCATGCCTTTTGTACATTATGAGCCCAGTGTAAAGATTTGAAGGAGGGTTCAGAGAGCAGCTTCCACAAGCGATGCTGAAGTCTTCCCACCAGAGGACCACTTGCTGTGCAAATGACCTGGCTTCCTAGGTGCACCCATAGGCACTAACCTGTCATTTTCACAATGTCATTAATACACATACCCAAGCACGAGCAGCTGTGTATCCTCATCCACCTATTCAGTTCTGACTAATAAACCAGGCAGCTATTCAGAGTCTACTTTTGTCTTTGGTATTGTGATAAAACATTTCGTCCTTTTATCTGAACCGAGTGGACTTTGGCCAATGCACACTCTTCCTTTTGTCCTCATTTCTCCTTGAACCCTTTCTTGCCTCATCTAGGAGCTGAATGGATTGATAGCAATGATTTGTCCTCAGTGGGAACAAATGCCAGGATCCTAAAGATTCTAGTTTCTGTAGGACAGATAAAACCAATATAATATTTCACATACTTGGCAAGCACAACATGGGTGGTGATCAGCTTAAGATAAAAATTTAAAAATCTATTCCTTATTAAAGTGAAACATATTTATTATTTTATACAAGTTACCTGTTCTGGTGGACAGAAGTCCAAAATGTGCCTTACTGGGTCAAAATCAAGGTATGTAAAGGTAAGTCTGTTTTTGTGAATACAAAAATTCATTATGAAACAAAATAATCTCCTCACTTTGAACATGGGAAAGCACCTTTGTTCTCCACATGCACAATAATTTACTGCTTGTTTTGGTCAACAAGAGGATGGTTTCCTTGAGTCAGTCTCTAAACATTAAGTTATCAGTTGGCTTTCACTGTGCTGGCCATTCATCAATCTTTATTCTGATAGTAGAATCACATGCTTTTTTCTCTTGATCATCCACAGACTGTCAGAGAATCCAATTAAACTGCTGCATGTCCTTGAAGACAGTCAGTAATCTTTTTCTTTTCTTTTCTTTTCTTTTTTTGAGACAGAGTCTTGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCATGATTTCAGCTCACCATAACTTCCGCCTCCCAGGTTTAAGCAATTCTCCCGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGTGTGCCACATGCCCAGCTAATTTTTGTATTTTCATTAGAGATAGAGTTTCACCATGTTGGCACCAGTAATCATTTTATTGTTGTTACAAGGTCTAGCCTTTATAATGCTAAAGTTCTTTATAAACTCTTAGCAGGCATGCAGCAGCAGCCTACATACTAGTGCATATTTACCACATGGTGATGGCATGTGGAGAATGAGCACTCAAAGTAGGGCCATGATGTTTTTGAAAACCATGCTCTTGTTCTTCTGTTTTGCTTTCTCTGGCATCTCAGCTTGCTATATTATTTTAATCTTCTAGAGCTCAAGTCAAAAGGCATATTCACTCTACATCTCCTATGACTCCTTCTCTATGTACTCACCACACTTTTTCTGCCCTCTATTATAGCATTTACTTCATAGACCTTGTTTTGTTTTCTTTGCAGATAGTCCAACTTACAATGGTTCAACATGAGTTTTTTTTTTTTTACTTTTTGATGGTGCTTTCAGCTGTGTATGTTAATGGTGAGCACCCATAAAACCATTCTGTTTTTCACTTTCAGTAAAGTATTCAATAAATTATATGAGCTATTAAACCTCTATTATAAAATAGGCTTTGTGGTAGATAATACTGACCAACTATAGGCTGATATATGCGTTCTGAACATGTTTAAGGTAGGCTAGGCTTAGCTACGAAGTTCAGTAGGCTATGTGTATTGAATGTGGTTTGACTTAACTATATTTTCCAATTACAATGTGTTTATTGGGATGTAAACCCATCAAAAGTTAAGAAGCATCCATATTCAGGTGCTTCTCTTCTATTGAACTAAAAAAGTTGTTGGAGGTAGAGAGCTAATCATCTTTTTATCCCTTCTCTTCTAGTACTTTGTCCCTAATGTAAGGACCAAATGCAGCTCATTCAAGCTCACTTCTAAAACCATTTGACTTCAACGATTAGGAGCAAGGTGCTGCTGAAGGAAGCACAACATCGTCTTTGTGCCAGATTCCCTTTGCAAGAAATAGACACTCAATAATTACTACCTGAATGAATCAGATAAACCATGGATTTTTTCAGTTTAATTTTTTATCACAAAGGTGAAACAATTCCAACTATCTTTCAGGAATGCATAGAGTATTATTAATACTTTATATGTTGAATGTTTGGATCTTATCTCAAGACTAGTCTAGGATGTGGTGTAGTGCGAAAGTGTTAGGTTAGAATTAAGAAACTAGGATTTAGAACCATCTCTGCCAAGGATGAACCAAGATGCATGAGATGACTGGCACCAAGATCTGTGAAATATAGGAGTGGCACACATGGTAGAGCATGGTCTTGAGAAGACTGGTTCTCAGATGCAAACATCAAGGTGCTAAGGAACATTGCCTTTGTCAAATGGGAGACAGTGCCATAATCTGTTATGAAAAGTGCTAAACATTTCCCTTTAATGTTGCAGCACCAGGTTTATGATGCTTTGGGGTGGGGTGGGAGGTGAGGGGACTATAGGAATAATTGTATTATTTTTGTTAAACAACCAGGGGCTCTCAGCCTTTCTCAAGGTTCATAAGTTCACCAGGAGTCTTCATCCTTATGAATATTACAACCTCACTGTGATTTTCAGAATCCCTCTTCTATAAATCAGCACATAATTATGAAAACTGTTTTCACATTTCAATCCCAATGCAGAAGTGCAAATAAATCTGGAAAGGACAATTATTTTATAAGTTTTAATGAGGGACTATCAGGATACTTTAACTTAAAATTATGAAAGACACTGAATTTTGTGACTCCACATGTGGGTTTAACATCTAAAGAATAAAAACATTTACCACTTGTTTTTACACAAATTAACCTAAATCACAGCAAAAGATTCTTAATCAGACAATTCCTGATTTTCAAGGTTTAGAAGCATTGTGAAGCAACGAGTGAATGCAAACTTACTGAGCAACTACTATGTATCCAGCACTTTGTGAGATGCTTTCACAAAATCAAATTTCATTTAATTCTCACAGCAAACCCTCATCTTAGATATTACAATTCCCATTGGATGGATGTAGAAACTGAGTTGCAGAGGACTTAAGTGACTTGCCTAAAGCCACTGGACGTAAGTAGATATTCAGCACATATGTACTGGAAAATCAATGGATGACTGAATGAATATCTGGAAGGCACTGAATTAGCCATGAAAGCAGTAACACCATCATAAAGCCATTCTCTGAACCCTGGGAATTCATGACCTGGGGTGATGTATAAAGCATATCTATGAAATGAAAAATTTTTTAAAAAACAAGTTAGGAGATGAAGGTCTTAAAATTTCTTGTTCTCATTTACTAGACTATGAATCCCTGAGCTTTAAACACCATTGAGTTGCTCACAGCATGAGCTTTGCAGCCAACAAGGCCAAGTTCATGTCATGATTCTCTATTTTCTAGCTCTCACAGAAACTTTCTGAATTTTTTTCTTTTACTATGCAAAATGGGAATCACAGTAGCTCCTGCCAAGGAACTTGTTAAGATTAAATGAGTTTTGAGTGTTTGAAGCACAGGTCTAAATCCTACCTCTCAGTAGGTATGCCCACATTATTACTGAAGTGAGTAACACAGATCAAAGAAGGAAGTTTAAATCAGAAGCACCTAAAACTAGAAGGAGCTGAGATTCTGTAATTGGTGATTACTAAGGAATAGAAGGCCATGCCCACCTTGAACTAAATACAAAAAGCCAATGATCAGGTGTCTTCAGTTTGATTACATCAGACGTAACACTATCCTTTGCAAGTGTATTAGTCCATTCTCATACTGAGATAAAGAAACACCCAAGACTGGGTAGTTTATAAAGAAAAGAGGTTTAATGGCCTCACAGTTATGCATTGCCTGGGAGGCCTAAGGAAACTTACAATCATGGCAGAAGGCGAAGGAGAAGCAAAGGCACGTCTTACATGGTGGCAGGAGGGAGAGCATGTGTGCAAGTGTAGGGGAACTGCCCTTTATAAAATCATCAGATCTTGTGCCACTCACTCACTATCACAAGAATAGCATGGGGAAAACCATCCCCATGATTCAATTATCTCCATCTTGTTTCTCCCTTGACATGTGGGGATTATGGGGATTATGGGGATTGCAATTCAAGATGAGATTTGGGTGGGGACACAATGCATAACTATATTAGCAAGTAAAGACACTCAGTGAGTTGGATCTCTCAGCACCAGCAGGGCCTACAAGCATATATGCTCTAGGAGCAGTGTAGTGTCTCCTTAAGTCTAGTGGGGCATAAAGGAAAACAATCCCATAATAATTTTCCAATGCTTCACAGAAAAAAATTAGCACAGCAAACACAAGGAACACACATTTCTCTTTAACAAGAGTAATTGCAGTGGAAAATGCACATTTGTTCATCCGACGCTAAAAGTTACCTATGGCTTTCCACTGTCAACTGGATTTTTCCTATTGATTTGCATTTGAATGACATGCCTAGATGAGGGGAATAACTTTGATAATGAGGGTGGGGTTAGGATATCCACAAAGACGGACAACTGCGTCTAGGATGAAAGCAGAGGTGGCACAGGCACCAGGAGGAAAAACAACTGAAAGTTGTCCCACTGCTGAGATTTTCTTAAAATATTTCATGTGTGTGCCCTCATAGACACACACAATATGATAAACAACAATATGGTTTTTATGAATGCTTGCTGGCAAACAGAGTAAGTGAGGCAGCTAGATACTTACAAATCATATGAGTCATAAACAGTGGCAAAAGTCTCTAAAAGAAAAGCTTAGCAGAAAAAACATCCAATAAGCAAAATAGTGTCAGAAAATTTCTGGATAAATAGTATCAGAAAAGTTTAGTACTTGGAGATAATTTTGAAAACTTTTAATGAGTACACTGATTATACAGATAATTAAATAAGACAATATTTGCCAAATACTATCTGTGAGGCTCTCCAGATTACTGATGGTTATCTTAGAGCCTTATAGGGAAGACAGCAGAGCAATTAATAGAAATATCTTGGTTCTGTGCAGAGTTTTGCAAGCAATTCAAATAATAACAGTAGCTATCATTTATTGAGGGTGTTAGATACTCTTTCATTACCTAATCCTAACACAAATTTGCAAAGTGCTTATAATTAGAGCCATTTTACAAAGAGAAGAAAATAGAGAATCAGGGGTCTGTAAGTGACTTCTCCAAGGCCACTGCTACTGATTTTAGGATTTGAGTTAGAATTTTATTACAAGTTAGTTTGACTCTCAAGTCCATGCTCTTTCCATTGCAACGTCCTTCTTTCTTTTGCTCTATTTCTATTAAATTTATGCCAAACAATTTTAATATTGATAAATAAAACTTTCACTTGGTAAAGGTACCAAATATACCACATGGTTCAGGAAACTCAATGAAGCTAACCATCTTTCAATAATAGAAACTATTATTAACAATAATGTAATATTAATAAGCAACACAAGTTATTATTAATGTCTATTATCTACTGATGTCACCAGTACCTCCTTAATTTACAGAGATGTAGTTACAGATATCTGAAGACTGACTGATCTGACTCATCACTGGTGTCGGCCAACAGCTTTTGGCAAATTCTTAACCCAAGTATCAAATAGGCAGACAGAGAAAATTGCAAGCACTCAGTTTCTAAAATATGTTCATATGTTAATGCTCTCTGAATAATTTCCTACATTTGAAATCATTTTTGAAAAATCAAAACTTGTGTCCTCCTGTTTAGCATGCAGTGGCATGACAAAGAAACAGCAATAAATGATAAAATTTTTTTAAAGAACCTATTCTGACTTAAGAGAACTCAGAACGAATGAAAACATACTGATATAAAACATTTATTTCATTTATTTCTCAGTTTCTTATGCTAGTTATTTACCTGTAAATAATTTGCAAATTAGAGTCAAATGTTTTAGATTTTAGAGGAAAATGTCATGGAGAAAATAATAGAATTGGTATTAGATCCTTGGAAATGGGTTGGTAACTGTTCCACAGTTGTAACATCTAACCATTTAGAGTCTGTAAAAATCACATATTTCAAACGTCATCATTTGGAACTAATTTAGTATCAAGATGTTTACTGCACTCAATATTAAAATACTGTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTTTTTAAAGCAGGGTCTTCACTCTGTTGACCAGGCTGGAGTGCAGTGGTGCAGTCACAGCCCATGGTAGCCTTGAACTACCCGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGAACTACAGGTATATGCTTCACGCGTGGCTAACTTTTGTATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGCTGGTCTCTCACTCCTGGGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGTTGGGATCACAGCAGTGAGCCACTGTGTCGAGTCTAAAACACTTTTTAAAAGAGGAGTGGATTTGAATTTTAGCATGTGTATCTAAAAATGATTACTTTTTGGAGAACAATATATTTTAATTATTAATTTAAAACTATTAATTTGGAACACCCCAATAATTTTGTTCATATTTTAATCAAAACACAAGCTTTGAAAACAGGTTTCCCTCCTTGCCATTATGTCCTGGATTTTTCTTTGGTGAACACACTATCATTCTAGAAAGTCAAGTTCTCCTGGAATAAGAAAAAGAACAGATCTTACTTATATTGTTTATCTCCATAAATCACCTCTCCGTTAATGTCCAGTCAGGGCTGATCATTTCTTAATTTAGAAATGTTGAATTTTATGCTATGAACTTGAATAAATATACATTGTCCTTAAATTCATAGGTATATGTTTTTTCTGTTTTGTTTTGTTTTTTTAATTTTATGATTATTATACTTTAAGTTTTAGAGTACATATGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCCTCAGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACACGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATACATGTGCTTGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTCACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTGCATAAATGCCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTCTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAAATGAGTAGGTTGCAAAAATTTTCTCCCATTCTGTAAGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTGGGTTTTCTTCTAGGGATTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATAGGGCTAGCCAGTTTTCTCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTTGATATCTCTGTTTTGGTACCAGTACCATGTTGTTTTGGTTACTGTAGCCTTGTAGTGTAGTTTGAAGTCAGGTAGCATGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGTGGGCTCTTTTTTGGTTCCACATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTAATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTATTCCTACCCATGAGCATGGAATGTTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCATGTCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCGTGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAATTGCTTATCAGCTTGAGGAGATTTTGGGCTGAGATGATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGAGGCATATGTTTTCAATGAATTGTAGTTTAGTTTTAGTTAAACTGCAGTGGTAATGCAGCAATTTAAGGAGTATTTATGTAGCTTACAGAAAGAACACCCATATAATTTCACTTAATTTTATGCACACTTCCGATACTCATTATTAGTATATCTACCATAAAAAGTAAATGCAATTTGAACTTAAAATACTGATTTTTAAAAAATTAACTTCTGGGCAGCTTTGAGGTTAAAAGCATGAGGCTGAAACTACTGGCAAAAATTAGGTTTGAAACTACAGTTATCTACAGATTTCAATTATATACGCTACCCTTTTCTCCATTACCCCCTAGGAAACTGAAAGTTGAATATATTAACTTGTTATATTATCTTCACTCCAGAAGCTTTTACAGACAAGTTTGAGCTTATCTATTACTTGTGAATTTTAAAAATGTAGACATTATTGCGTTGACATCCTGGTTTCAATACTTGGTAATTTTATCTGTTTCCTCTCTCTCTCTTTCCTCACCAAAACTTTACTGTTCTTTTGCATTCGCCATTTTCAACTCTTCTTGAAGAGAACAAAAAGCTCACTTACCACCTCACCTCCCTTCTACTAAATAAAAAGAAGCAAAACACATCATTTAATTGTAAAATATGAACCTTCATATTTTAAATATTCCTGATTCATTATAAGTTCTTTACTCAGTGTGTCTGCATTCTATTTCAGAGTTCATAAAACTCTGTGTTTTGTATATTCACATTCAAATGTCATCTTAGAATCCTGCTCTTTGCAATCATGAAAAATACCACTTTCCATCTGTCTGGACAAATCAGAAGAATGGATGCTCAAAAGATATTCATAAATGATGAGCTTGCTTCTGCACAACATCATTAAGAAATTATTATACTGATAGAAGGAGACTTTTTGGAGATCCTGAAAAGGCAAAGTTTTATTTGACACCTAATGGACTTCCATTATCCATCGCTATTTTCCTGTTTTCACTGTTTATTCACTGCTCCCCTCCTCATACATTGGCATACAAGCCATGAATTTGTATTTTTAAGTTCTCAAAGCAGAAAATACCAGCTGAAATATTAAACCTGACTTCCCTTGTTTTTGTGATACATGCAGGTGATTCAGCATCAATGGAATGATAAATAATTAAATCAGCACATTTATACAAGAGCAGAGACAGTGGTGACTTGCCAGGGTTAAATTAAATGGTACAAAAATGCCTTAGGGCCATTTTAAACAAGAGATTAAGAAATGCAACCTAAGCCAGCAGGGGAGAGAGACGATGTTTACTTTGTCACAAACATCAAGTAGTATGTCACCTTGAATGCTCTTGCAAGGTTATTTCGGTAACCAAAGACATTTTTAATAAAGCTACCCTCTCCAGTCTATGGGGTGGTTTCTATAAACTTTAGAAATAGGCTAACACTGGATTAGTAATATATTCCATCCCACAAACATTAATTGAGCATCTAAAATATGTCAGAGACTGTTCCAAGTACTGCAGATACAGGATGAACAATCTCTAAAGTAGTGTTTCTTGACACTGGCTGTCTCTAAGGATCACTCTCCTAGGAACCATAAATAATATCAATATATATCCCAGTCTCACCCCATTGAGATTCTGAGTCAATGTATCTGGGGTGGGACTAGGCATCTGAAGTTTTTCAAAGCTCCCTCAGGTATTAAATATTCAGCCAGAGTGGAGAACCATAGGAGGTGCTGGGATCCCAGATCCTCTTAGAGGAAACACAACAGTACAATAACAGTGCAGCAGTAGGACATACAAAATGAGGTGGTGTCTTAAGTGCTCCTAACTTTACCAGGTTAGGGGGTGGGTAGACATCACAGGGACTACATCACAGAATAAGGGACAAGGTAGGCTTCACCAAGGAAGTAATGCAAACATATTTCAGAATTCTAAGTCATTATAGCTAGCTAACAATTTTTGAACACGTATCAAGTGTCAGGTGCTCTTGATGGCACCAGAAGCAGTCCCCAGAAGTAGGTGTTATTGCACACACATTGCCAATAAGAAAACTGAGATCAGGGTGCCTGCTAAAAAAAAAATCACAAAACTTGTAAGTGGCAGGGTTAGAATTTGAATCCAGGCCTCCTGCCTCCAACTCAACACAATTTCTAGGGGGAAAAAAAGTAATGGATTTAGGTGATTTCAAAATTTTAATATTTCCAGAAAAAAAGATGCCAAGAAGGGCTGTCCCTTGAATTGCTGAAGACAGAGTCAGCTTTTATTGCTCGTTTGTCCAATACTATTTTTATATAAAATTTCCTCTGGGGTTTTCAAAATATGTGCATATTTTACTTTCTTTTAAGTTGACCTAGTAGAGATCCAAACACAGCAATGTCTTACAGAAAAGCAATTTTTTCTTTAAATTGAATCCAATCTGTGCCCTGGAGAGATTCAGGGCTATAGTGATCTGCACATGGCATATCTCCATAACACCAGGGCCACCAGTGACTTTCTTGTCCCCCTCTTAGCTAAGCCATAAGCAGAAGGCCCAGGCAGGAGTTAACTAATTAGTCATTTTGTCCCAAATGTTATAAATGGTTGTGCTAAAGCAGCCCAGGTTCACAGTTCTTAAAAGTATTCTTAATATTTCAAAGTGCAGGAAACAAGCTGTATCTTGGTGAAATACCTTTATATCTACAATGCAAACCAGCCTTTCGAGACCTTTTAGGGAACATTTCAATTATAACAAACCTTATCAAATAAGGAAAGGACATAACAGACTAGAAGTAACTGTTTTATTCAATAAGAGGCAACTATATTTCATATCTTTATTAATTGGAGTTTTACATGCCAATAAACATTCTCATCCTAAGATCATATCACTCAGATGTAAGACCTGGATATTTATTTTTTTAGTTTAAGCATTGTTTTAACTCATGATGTTCTCTCTGCCTTAATGTTCCTCTCGGTTCTCCCCTTATTGTACTTTCCTGAAGTTTCTAATTGAATATGTGCTCTCACACATCTCCAAACTATTCCAGACCTTCTTTTCCTCTGCCTTGAGACATTTATATCTCGAGCACATAAACCACCCAGGCACCAAGCAGATATCAGATCTAGAAGGTAGAATTGAAATTTTCCAACAAAGTTTTGGCTGTTGCTTTAACAGGGTTCTCTCCTGCCAACACTGACATCCCTGGACTAAACCAATCTTCACACCTATCAGAGAGGCAAAACTATCAATTACACAAGCACTGTTCTTGTAGGCAAGAGACCAGGATCCTCATTCTTCTTCATTGCTAACTAACCACACAGACATTGGCAAATTACTTACTTCCTCTGACTTGTCTGTCTCCACTGTAAAATTGGGGCTAATAATGCCTTGCTTGCCAAAAAATAAGAAGCTGGTTCAGATAATTTTTATAAGATCTCATCCAGCTCCAAACTATGACCTATATATCTTTCACGGGACCAAACCCTTCTTAGTCTGATGCAAAAAAAACACAGTTTGGGCAAAATGCAGAACTTCATTTGAAAGTGCTGTGAAACATGACAATGGACTGATAGTAACCACCTGATCTAAGTGAGTTAAATATATTGTACTGCTAATCCTTACTCATTATTACAGGTTATGTCCCTAGTCCAAAAATCTAAACTCTGAAATGATCCAAAATCCAAAACTTTTTGAGCACCAACATGATTCTCAAAGGGAATGCTCACTGGAACATTTTGGAGTTCAGATTTTTGGATTAGGGATACTGAGCCAGCAAGTATAAATGTAAATGTTCCAAAATCCAAAAAGCATCCAAAATCCAAAAGACTTCTGGTTTCAAATACTTTGGATAAGGGATACTCAGCTTGTACTGTTAAGATTTCTATGTGCTTATGAAGAATGTACAAGTGTCTGTCTCTTACCTTTTGACTTCCGGTCATGGTATGACCTGCCTCGATACCGAGGGGTGTCCAGATACATATTCTCAAGATCTTCTTGCCATGACTCTGGATTGAAGTACTTGAGCAGATCTTCCACTGTATCAAATTCTGCAATTTTTTTGTCCAGAGCATCCGCAATCAGAGTGGGATCCGTTACTGATGGAGAGTTATAGGATACCCCCTAAGAGTGACATACAGCTCAGTGTACTCAGAATAAGTCCATTGCTGTGAAATACAACAGTCATTCAACTATACGGAAGGAACATAAACAGGCTTCTGAGTATAAGACATCATACGTTTGAATGCTATGTAAAAACAACATGGTATTGTCTTGCCATATTCTTGGATAAAAATCAATTAATTACTAAAAAGATAACATTCGCTTTTTTGTAAATCAAATCCAAGTAGATCAGAAAACTTCCAGTTTATCTTAAGTGTAATCATCTAAAAATATAGAACGAGATAGAAATATATAAAATTAAGTTATCCAGTTTCTTGGTTCATGGTCCCAAATCATCCACATAACAACAAATAATAGTGGGAATCAAAATTTCAAACTCCTTCCACATTAGTTTTGATAATTAATTCCACTCTCCCACTGTTAAGTTCCACATTCCCCCTTTACAGGTCACCTGGCATTGCAGATGATGTGTGAGCAATGTACGAATCTACTCTGGAGACATTTTCATAAAATTTAGCACTTTCACCAACTTATTTACTGTCAACAAAGATAATTAGCCATGAAATTGGCTCTCTTGACTTAAAAGGAGAGGATTCACATGGGGAACATATTTTTTTAAAGTGCTATAGTTTGCTAGTGATCCCAGTTGCCATTAAAACTTCTCAGGAAGACTCTTTAAATGAGAAACACAACATCATTGAAAGCCTGGAAAGGATTATGTATTTTGCCATGGAATACATGGCACATGAGGTTTCCAAGCACTTACTTCACTAACCCTTGTACAATCTAGAGGTAAATGAGCCATGATTCAAACATCTCTGTTAAAATTCATGACCCATTAACAAGGAAATAGAGAGCATACAGCCTCAAATGATTTTTAAATGTCTTTAAAGAAACTACCAAACAAATAAGATTCCCCAAAGGCAAATATCTCCTATCACTAAGGGAAAATAGGAATTAATGAAAACTTGCTTTCCTAAGATTTGACTGTAGTATCTAATCAAGAAAAATTATGTGCTATTGAGTCCCAGACAGCCAAGCCCACAATTTATAACCTTACTCTCAGGCAATGTTGTCTCTCTTTAACCAATCAAGGTCCAAAGGTTGCTAAGTGATTTGATGATCATCTGCTCTCAGAGTAACAGTCCCTCTTCACACAAGTAAGAGGCTTTAAAGCATTAATCTACCATTGGTATAACTCAGGAGCAGTTTTCAAATATTCCCTGTAGGGAAAAGGGAGTCAAGGGAGTTGGGTGAGAGGGTGAAATAGACCGATGAATGTGTCAGGCCAGCTCCATTTTTTTTTTCTTTTACAAGAAACCATACATCTAATTTTCAGTCATCCTTGTTAAAATAAGTTCTGAACAAACCTTTCCTGCCATGCTACATTCATTACCTTATGAGTCCACTCTGTATTCTGTTCAGGTGTATCCAGGTAATAATGATCATTTATCTGGAGGCACGGTCTTTGTCATACATTACGGAAGAATCCAGAGATTTAATCACAGTTCAAGCCATGTTAAAGATGTCCTCTACAGTCATATTGTTGATATTATATAGCTCTCATCTGGGTGCAGCCATATTTGTTCCTTCTGTTTCTGATAGGTTGTCCCTTTAATCTACGTGACTGTGTGTGGGTGTCTGTGTCTGTGTGTGTCTGCTTGATACGAGCTGAACCCTGACTGACACACATCATTTCTGTCTTTCACATCTCTCTTGAGGTCACATGCTAGAGGTGGAAGACTTATAATTCAGGACTATAATTCCAAATCGCCATTAACTTGTATTGTCGGATAATCTACAGTCTATCTGGCTAACATGCACCAGATGGTTTACAAGCAGCCTTGTGTCACAATAGTGTGGTTCTAAGAACCACAAAACTCAAAATGAGCTGACGAAATTAGAAGCATGGCAGCACATAAAAAATCTTTGAAATTAAAATGCTTCCCTCATTTTTGAAATAAAAACAGGGACACCGATCAAGTCATTCCCACGCCAGTGAAAGCTTCTTGTGACAGCTCTGGGGAAAGTGGCTGCATGGAGTTCTCCAGGGTGGCTCCCAGCAGTGCCTAGAATGTAGTGTGTACACAGACATCTCTCTCAGAGAAAGCTGTGGGGAACTCTCAGTCCCTTAGAAGGGAGGGGGAAATTTAATCTCTTCTAACATGAGGCTGAAGAGTCAATCCAAACCATAGGTAAAATGCAAACATGTCCCTATGTATGAGCTTTACTGCTGTTTTCAAGTTTTGATTTAGGGCAGTTGACAGAAACAACAACGACAGCTGAGGAAATATTTATGAATGATGAGGTGACCTAATAAGACTACAAGAACATTTTGGTTTCTGAGGTAAATATTTTAAAACTATTTTTGAGAAAAAGAACTAATTTAATGTGTCTCCTTCAGCTGAACAGTAAATATGATTTCATTCAGCTTTTGTCACGTATTTATAAAAATCAATTCTGAAGTTAACTGCATTAATTTAAAATGATAACAATTTGTAAAAAAGAAATGCTCTGGAAATGCAAAACCACTTTCAACAAAAACAAAGTATGGTTTAAACAGAAGTCAATGGTAGGTCCAATGACCCCTGCTCCTGCTCCAGAAAGTTCTTGAACAATGGAGTGCTGAGTAAAGAAACTAGCTTGGTCTTACAAGAGAGTTAAGCAGCACCTAGACTTGAAACTCAAACGAGAAGCTTTTGCAGTGGATTTGGACCCAGGGAACTTCCCCAGATACTCCAAAAGGATGAGACAATGCCTCTCTTTTAAAGGACCTGGGTTATTCTTAATTTGTTGAAGGTCCTTTAAGGCTTGTAATTCTGTGGTTGGAGCAAGAATCATTAGACAACCCTGAGCTATCATGTCGAAGGTGCCTGAGAAGCTGCAGCATCCCATGACCCTCAGTCAAGGTTGCAAAAACTGCTGGTGTCTGCCTTGAGTTATCAGCCTCTACTGTGACCCTCCTGCTTAGCCTGAGCACCTCTTCAGCATATCTGCCTTGTGTTGACTTTCATCTAATTGATAATGATTGCCTACACCAAGTTAGGTTCAGAGCATGTATTCTGGACTGTTGAAAGCACACAAAACACTTATTATCACTGTCAAAGATCTCTCCAATCTTTTGATCAGATGAGGTTCTAGTCCAGCATCCATACCAGGTGAATTAAATAGCCACATAATTCATAGTGGAGGGAATCCTGCCATATGAAAGAGTTTTTAAAAAATCCTCCAGAGAGCAAAAGATAACATACCAATTTTAGGAAAAAAAACAACAACTCTGACTCAGCCACACGGACCTACTCAGAACCATGGGCAAGCTTTCTCTATGTTCTTGACCTTTTAGTAAACAACTGCATTTATTATCTTGTATTTTATTGCTACATAAGTGCCACACATAGGATTGGTGAAAACAAGGTCTGTTCTTTCTGTGCAAAGTAGATAAGGAGACTGAATACTGAGAAATGACTAAGTTTAGAGAAAAACTGGAGCATGAACCATTTTACAGCTTCAGGGTGAGTTATGTTTTATATCCAAGTAAAATAGAATACATGCCTGATTTGCACTTATTATCTTACTGTAAACATTGGGATTTTTCAAGTCTGAAAAGACCCTTGAAAATGCAAAGGTTAACGTCTTCCCCAGGAATATTCGAAAGCTATTTTGAAATTCCCCACTTGAGTGTGGGCCATGAACTAGTTTGATATGTTTGATATGTTTGGACAGACCTTTAATTGGAATGCTCTGCTCTGAAAATGAAAAATATTTAAGTTATTACCTAGTGTGAGTTCCTACCATGCTATACTGGCAGTTCCTGGAAACATTTCTGACAGACAGGGAAAAGGGTTTCTGACATAATCCATTGTAACCTGAATGAAATGGAGAAACACATCCTGTTTGAGATCTAGCTTTTGATCAAGCCACAGGTCCTTAATGCAGGTGAAGTCCTTTTGGGGTTGACCTTAGCTGTTCCATCCGTTTCTTTTGCTGGCAACAGAGTAATAAATTACTTACTGAAATAGAGCTTGTGACAGATTCCCAGTTGGTCTCTGAAGCTGCTGCGGGTTGGAAATCTTCCTGGAAGGCAAAGAAACATCTGTGAGTCAGTCAAACCTCTGTTCAATTCATTATGTGCACAGTTTCAACATCTCAGCCTTCTGAATCTTTTTCCAACTAAGTGACAACAGACATAGGGCTATATTCCTGCTGAACAGGTCACCATTTGTCTTAAGCACATCTCCTCAAGAACCCTTCTCATTTAAGACATGGACATTTTCTTGTAAGTACTGGTGAAATGGAAAAGGCACAGGAAGGAATGCAAATTTTAACTTGGCCATCTACTGGCTGTGTGACCACAGACAACTGACAACCCCTCCAGTCCTTCCTTTCCTCAGCTAGTATGGAATCCTTACATTATAGGGCTGTTTTAAGAATTAAATGCATTAATTATGTAATTACCAATGGCACTGAATAAAGTGTTTGATAAAGAATAATAATAATTATCATTATTGACATATAGTTGGTTTAAACTAGGTTACGCATTATGTTCAATCTTGCCTGCTGACCTGGTCCAAAATATTGGTGATCTTTTCAACGATACACTAACTTCCAAGGGGTTGTTCCTGACTATATCAACAAATATAAGGAAGGATGGCAGGGGAAGAAAATGACTGGTAGTGACTAAGTACTGCCCATTTGGGGAAGGAAGGTCAAGGGCAGACTTGAAAACATTAGTTATCTCAGATAAGCCTTAGTGGATGTGTGATAGCAATAGATCACACAGAAAAAACTTCTCTTAAAAGGCAAACTTGTCTCCCATTTGTATGTGACCTCCATGTTAATTACTACAGCACCAGGAAGTTTAAAAAACATTAAGGGAAGGAAAACTAATTCTGTCATTTTTACAATCCACAGATGGCTTTCTGACCTTGCTAAAATAAATCACTTTAGCAAATATTTTCCAGCCTTACCGAGGAGTGGGAGGTGTTTTGAGAGGATGCTGAGAAATGTTCAGCCACTCTAGTCTGACAGCTTATTTATCCAAGTATACCTACTGAATGAGAGCTTAGTATCAGGTGTAAATTTCATTAACATTTTGAGGAGCTGGAAGTACATTTGTTAATTGGTTATGATGAGGCTGGTTTATATATAAATTTCCTGTGTTTAATAAAATTTCAGCTGATTACTGAGAGAGAACCGAGTCAAATGCGGGGTTCAAAAAATGAACAAATATTAGAAACTGACTAGATGATGGGTTGATAGGTGCAACAAACCACCATGTATCCCAGAACTTAAAGTAAAAAAAGAAAGAAAGAAAGAAACCGACTAGACATCATTATTTTAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCACCCAGGCTGGTGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCTAGTAGCTGAGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTATTGACCTCAGGTGATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTCGTTATTCTAATCTTAATCCTAGGGAAGATAGAAAAGAAGCAGGAAATGTGGTATCTGCACTCTGCAAAACAGAATAGACACTAAAAGGACACTGAATTCCCACAGCGGGAAGATGTGTATAATCAAATGAAGGCTGGCATTTATATGAGTCTTCATAAGTCGGTGAGCACATAAGACTAGGCAAGAAGCCAGAGAGCCAGTGGCTTCTCCATTCCTTGATGAGACTATTGGTGGAGGACATATGCCAGGTATGGTAATGACAGGAGCAATCCTCACATTACAGAATTTTCATTTTCCCTTGTTCATTCAATATTTGTTAATCACCTGCTATTAATACTTTCTGAGCTGTGGGTAGGATCATGAGGAAATAAAAACTATCCCTACCCTCAAGGAATTCGAAACGTAAACACACAAATAAACACGTGCAGTAAACGCATGTGGGTGCTCTGATACCAGTCTACTCAGCATGCCATGGAAGGTAGTAATAGGTGGTTGTACCTGGGGAGAAAGTGGGCTTGAAAAAATTTCACATAGGAAGCTGATTTGTTAGTAGAGTCTTGGAAGATAAATAGTTGCTTCTTGCAGAAAACGCGGGTAGAAGACTCAAAGGGAAAGCAATGCTTAGACAAGGTGAGGAAAGTATACAGAAAAATAAACAACTTACTGGGGAAACTATGAGTCATGTTGGGCATAGTGCGTTTGAGAAGCCTACACTATGTACAGATGGAGATGTTCGGGGGGAAGTTTGCTACATGAGAATGGACCGCATGAGAGAGAATGGACCACATGTGACCTTGAGATATAGATTTGGGAAGTATCAACACAAAAATGCAATTCAACAAAGTAAAGGGTTATGTTGACCATGTGTTAAAATCAGAAGAGGGACAGTTTTAAAATCTTGGAACTGGAAATAGTTTTAGAATTATCTAGTCCAATCTCCTTATTTAAACAATAAGGAAACTGGCCAGGAGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACTCATCTCTACTAATAATACAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCATGTACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTTTTAAACCTGGGAGGCGGAGGTTGCAGTGGGCCAAGATTGCACCATTGCACTCCAGCCTTGGCAACAAGAGCGAAACTCTGTCTCAAAAGAAAAAATAAATAAATAAATAAATAAATAAGAAAATGAATGCTTAGAGAGATAGATGATGTGTTCTGTATCATGTACCCATTTTCTGGCAAAGCTAAGGCCACCAAAGCTCATTTCTAAGTAGAAACTGTGTGGTTGGTGACCTTCCACAGTGTTACAGCTGCCTTGGATAATGTGTGTATGGGGAGAAAAACGATGAAACAGTTTCCAAAAGGGGAATCAACAGAGCAGGAAACGCATATAGTTGAAGCTGAGTGCTGGTGGGTGGTTCTATGAGGACACCCTTTGAAGTAGCCTTAGTTATTTAGATTTCATATCTATCCTTAGTAAATTCTGTGATTTCAGTTCATTTCCTTGCATAGACACATGGTAAAAATATTTTGCTAAGATTTTTTTAAGCAGAAAGGGACTTTGGTGCACAAGCCCCTAAACAAATGTTACACAAGAACTTTTAGCTTCTTCACTGTCTGGGCTACAGGATTCCAGTTTGAAATTTTAATAAGAGCAAATGATAAAAGATTTCATTAAGTCCCAGATAAAACATAACTTTATCTTCTCTTAGCAATACAAATGTTAGACACTGAAAAGAAACCAACTTTTGTGTTACTTCAGAAGTTTACCATTACTTATAGATGACATATTTAAATTAAGCTTATAAAAAGGAATGACATCCCTTATAAAAATAAAACACCGAACCTCCAAGGTTTTAGCCCTGAAAGGAGAATCTTGGCAATAGGGAGGATTCACCTGCTAAATCCACAATATGATTATTTCTCATCTCTTCCGCCATAACCTCCTAAGTCCACTTAGAAACCAGCAAGTTTCCCAACTGCCTGTTAGCTCTTCCCCTAGGGTCAGAATTATCTCTTTTAATGGTAAATCAAATCACTTCTGTCGTCTGCTTAAAACCTTCCAATAGCTTTCCATTGCTCTTAGAATTTGGCAAAATAAGATCTGACTACCATTTGCCTCTATGAACTTCTTTCCTCTGGTGTCCTCTGATTTGATAACCTACCTTTCCCACTACCTCCACTCCTGCTACACTGGCCTTCTTTCAGTCCTGCAAATAACACGACAAGCCTCTTCTCCCCTCAGGTTTAATTCACTGCTGTTCCCTGCCTGGATGCACTTTCCCCAAACGCTCCAATGGCTGGCTCCTCATCATTTAGTTCTCTGCTCAAATATCTAACATCTTTGAGCATTCTATTTAAAATACTCCCACTCTTGGTCACTCTATCTACTTAACCTGCTTAATTTTCTTTAAAGCATTTATGGTTATCTGAAATAATTTTATGTTTGTTTTATTGTTGATTGTCTCTTTCCTCAAGTGAAATCACACTCCGGAATGGCAAAGATGCTGTTTATTTGTTCTTTACTCTATTCCAAGTTTCTAGCTGAGTTTTTAGTATATATTCCAATTTCTCTGGCTCCCAGTGTATACATAAGGATAATGATCAGCTGCTACTTGCTAGTAGCAAGCCAGTAGTTTACAGCCAGTGTCCATTCTGACTGGTTGGTCCCTATGCCATACTATTTGTTATATACCCTTAATATTATCCTGAGCAGACTGCTTGATTTTCAACCTCCAGACAAATGCAAAACAAACTCCTTTTTGTGGGTGCTCTCAGCAGAACAGTGCCCTTACCGTTACTTTAAGAAATGCTAAAATAGAACAAACAGTGAATAATCATTTAAAATTATATTAACAGTTTAGTTTACAAAGAAAACATTTCTGTTCTTTGGTATAGAAAACTTACATAAGTGCTTTTCAAGCAATGTCTTATTATTCTAAGAGGAGATAACTCTCTACTAGCTCCTAGAGGCTGGTACACAGCTTTTGACTTCCTCACCTCCTGCTCCTGAACTGTAGTATCTTCCATCCTAAAATAAAGGAGCTGATGTTTTAGTTACTTTGGTCCTATAGTCCATGTAGGGAATCTAGCACTGTGATGCTGTGTGTACCTTACTGTACCTTATAGAGACCATCTGGGGGTCTGATATGAGCAAACTGAAGTTCAGAGAGCCAAATGAGTTGTCCAGCATCTCCCAACTAATTATGACTACAGTTAGGACTAGGACCCAATTAGCTATTGTGCATCTCTTAGTTACATGCTCTTTCCAACCCACCAAATAATGTTATATATCATTGTATAATTATAAACATCTCAATCTGCATTGCCTTAATTAATAAAATTAATTTATACCATTAAAATAATTTATCCTCAGCTTAACTCCTCACATTAAAATAGTTCATAATTATATTTTGGCAGTGAAACTAATCATTTGGCATTTTGAAACAAAGCTCCCTCATTCTCTGCATTTTACTATTAAGCTTTGGAACATAGATATGATTCTCAAATCTTCACTTTCTAAATAGTTTAGGATGCACAGTTTGGTTTCTATGAGAAAAGTGTTACAGACTCGAAAGTTAGGGAGATGTGTACAAATAAAATCTTAAAGTGCTACATGAAAACACAGATAAATATTTATGTAAGTGTAGTGTGGAAGAGATATTTCTAAGCATAAATGCTAAAGTCAGAAAGCATAAAAATCGATACACCTTATATAACATTTTGTATATATACAAGATGTGTACATACAAGATGTATATATACAAAATGTATACATACAAAATGTATATATACAAAATGTTATATAAATCTAAAAGAGATCAAAAACAAAAGTAAAACCATAAGGACAAGCTAGTAAACACACTTGTAACAGATATAACAGGTAAACAGTTAACATCCTTAAAATAAAATGAACTCATAAATCAAAAGCTTATACAAGAGTATGTTCCATATCATACAATATTGCTAGAAAAAAATGTACAGATATATGAATGAAGCAGGACTGAAAAAGTATTCACAAAATGTTGATATTGGTTAGCACTGACATATTCTTATTTTCTTCTTTTTGTACACATGTTTTAAAATGTCATAGTAAACATCTAGTTTTAGTAAAACAGTAAATTTCTAAAACTACAATGGAAAAGAAAAAATGGACTGGATGTGTGTACACATATTACATATTAATATGACAGACAAGACTTTAGGGGTAAATGATCACAAATCATTTATCTGTACTTAGCACAAATCAAGAAGGTTTATTTATCTCATAAAGAGGATTCTTTATAAATGAAAAGAGGAATTATTCAACATTTATGATATCATTTATTGAATGGTGTCACCCATGTATTCCCTGGTAGGAAATAAAAGTGTTCTTGTAGATACGTTTCTCACCAATTGCTAAAAGAGAATTGTTCAAAGACTGGACTACAAAGCGTTCTAGCATGGTCACATTTGGCTCTACTAAAACATGGCTAACACAACACAAACTTTTAATGTCTTTAAAAGCAGCTATGAAAACATGCAATGAACCATCAGCTCAGGGTCAGTCAGGCATTTGTCAGGCTCAATTTGAGAACAATTTACCCACTGAATTGTGCTATATGGCTGAAAGCAAATATAGCTGGGGCTATAATAACATTACAGGTAATAAATGTTGTCAACAACAATCCTTGCTATTAAAGAATAAGATATGAGTGGGAATTTCCATTTTCAGAAAGGGTTTCTCCAGAGAAACTTTCTTTTCAGATTCCTTACCATTGGATATCTTGGGCCCATGCCAGAGAGGACAGTTGATATATTACAAGCTAACAAACAATCCACTCATTCATTCAGCAGAGCAAGCCTGCACATATTCAACCACGTACTGAGCACCAGCAATGGATGTCCAAAGAAATCCCTCTCCTGTCCCTTGATACCACGTGGAGCTAGAGACTCTTGTCCTTTAAGTCTTTGCAGACAGCTGTTCACAGACCAATACTTCAAACATTTGGGATGATTAGTTGTACCACCTGTTCCTGGATCTCACGGAGGGTGGCTGTTCATTTTTATCCTAGGTGATTATGCTTTATTTGAGTAGATAAGCCATAAACTATTCATGGCTAGAGGGATGTGTTTCACCAGCACTTAAAACATATGCAGTTACTTGGGAGTTTTTAAAAAGCTTTCAAATAAAACAATCTTTAACTTACTAAGGATGACTTATTTGGGGAAAGTTTTAAAAGACATTTGTCAGTGTATTTTCTGTCATTCTGAAAAATTTTATTCTATTTGCTGCTTTATATTCACTTCTCAGAGGCAGAAAATAAAGAAATCCCTCTCCTAATTGTATCTGTGCTTCTTGATTGAGTTAATGCTTAGAGCTTTTGAATTTCTAAATGCTTAATGCTTTTGAATTTCAAAAGAAACACCTCTAAGCATTCAAAAGAAAGACAAAGGGGTTTGTTAAGATTCATAAAACAGTAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTAATGAACAAACACATGATCAACATCCATTCTTTCAACAAATTCTAAGTTTGTTCATGACACTCTGCTCTGTTCATGACCCACTGAGGGAAATCCAAATAAAGCCAAACTTGGAGGCCTGTGTCCTGGGATTACTCTACAGGGAGATCCTTTTGAATAAAGGCTTTTGATGCTTCAGTACCTGATTTTCTGGCATGCAGACCCAACAATGTTTGTGGAAATGATATTACACTAATGTCTTAACGTCTACAGGAATAGAATAAAGCAAAAATTAAAAACCCTTAGAATCAATAAAACTCTGTAGCCCAACCAAAACTTAACAAGTATACTTTCTTTACAGACTCATCATCAAACTAGCTCTTCTACACATAATATGGTAAAGGTCTTGGCAGGAGGCCAGATTTTATTGGCAAGAATATTTAATACAAGGATATCAAGAGTCTAAGAATCAATAATTAACAAGAATCAAAGAATATCTCTCAAAGTTAGAGAATTTGCCTGTGAAATTTAATAATATATGTTTCTTAGAGTTACAAGAAGCCCTGGATAGGAGCTTTCTGTTATAGTAAAAATATCTTTAATTAAATAAATAAATTTTAATAAGAAATATAGATAAGACACACAGATTTTCACTGATTTAAGAGTTAATTTTATAACATTTTCATTTATCATTATTGACAATCAAGTACAATGTTTTAATTTAGAACTGCTAGGATTCATTAATCAATCATCCACGTAATCTTGGTGCTAGTGTCAAGATATTTTTAAAAGTTCATTTTTCTTCCTACATTATGAGAAAAGGAAATTTTTATACTTGTTAGTTTCTGATTTCTTCAGACTGAACTTAGTTTGGGAATTTTTTTTTTTTTTTTTAAGTTTTAAGGTACATGTGGACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCTCTCCCCCCACCCCACAACAGTCCCCAGAGCGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAACAGGCGGTGTTTGGTTTTTTGTCTTTGCGATAGATTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTACCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCACGATTTATAGTCCTTTGGGTATATATCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACATTCCCACCAACAGTGTAAAAGTATTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAACATTTTTTCATGTGTCTTTTGGCTGCATAGATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTATCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTATAGTTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCTATCTTGAATTAATTTCTGTATAAGGTGTAAGGAAGGGATCCAGTTGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATGTGGAATCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAGCAGCATGGTACAGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGTGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGTTTGGGAATTTGTTCTCGATATAGTAAGTAAAGATTAGAGCAAATCCCAGTCCAGCAAGCTGAGAAGAGAAGGGGGTCATTGATTTAAAAGGGGTCATGAGAATGATATTCAAGAACTAGAGAGGATCAGCGTGTTTGCAGATAGAGAGAGGGGTGCCGCATACCAAGGGGCTGCACAGAAAGTTGCAAATTGCAAAATACTACTTTGTTAATAGCTTCCATGGTGTTTGGTCATACCATGGTGTTTGGTGTATGGTGTTGGTTCACCAACCTCCATGGTGTTTGGTAAGTGAACATTTAATTTACACCTAGAGAAATACTACAGTATTTCTACAATCTGTTGCCGAAGAGCTAGGTTCAGATTTAAATTTTGTGACTAGTTGTTTAGCATTAAAAAAAAAAACTCTGTGATTAATTATTTTGCAGTAACGCCTGCCACTTATGGAGCACAGATTTTATGCCGGTGACTATATGAAATACTTTCCATAAATTATCTCATTCATCATTTCTACAGTAGCTTTAAAAGATGAGGAAGCAGAAAGACAGGATGCAAGCCCTATTATTAAGGAAGTGCCACAGATACCTGAAACCGTGGCTGAGTCTCTGTACTCTTTCATCTTTGTTGAATAATTCCTCTTTTCTTTTATAAATAATCCTTTTTATAAAATAAACGAATCTTCTTGATTTGTGCTAAGTTCAGGTTTTCATAAATTCCTTAAATGCATTTCAAAGAGAACATCTGATTCAATTCACCAGTGGTCTGAAATTTATTAAAGATTGTACTTTTGATATTGCTAAGCTAATCTTAAAGATTGTTTATACCAAGCTAAAATGAATGACTTAGGAAATTATTCCTGCACCTTAGGAAAATTACAAGTTTGAAATGAAGAAATACTGACCTGATTCATATTTTCATTTTCTTGCAAGCACAGTGCCTGGTACATAGTAAGCACTCTTTTTTGTTTGTTTGGTTTGTTTTTATTATTGTGGTTAAGAGAGGAAATACTGTTTCATGCTCAGAATTCAACAAACCATTTCACGCCTCTGTGCTGAAATTCACACTCCCAATAACTGCTAAATTTCTCTGTACTTGACTGACGTTATATAAATAGATTTTCTTCATGGTGGCCAAAAGCTAGTTACATTATTAAAACCAGTAATTAGAGAAAATGGGAATTACAAACAGTATGAAGATTAAGGCCATGTCACCAAAATCCCTTAGCTAAAATCATTATCTCTAAAAACTCAAATTATTCCATTACTAATTAAAACTCCTAAGATCTGACTTTAGGGAGAAAATACCATTTGAAGTCTAAAAGCCAAAGCCACAGTCAACACAGCTGGTACGGTTCCATGAAAAAGAGCACTCATGAAATGTTACTCAGCAAGTGATGGGATTATAATGTAAACGGGAACATTTTCTAAGAGAATCAGGAGTGTCAGTTGTAAAGTATTAAAAAAGCTGTCCATTCTTTTTAAAAATATGGGTATTTCCTAGTGAGGTGACTTTGCGTTGTGACACCTTTTCCCTCTACACATTCATCCTTATCCTTACACTGGACCAGTGTTCATTCATCAGAGCTGCCACCCATCATAATTATCATTTGGCACTATGGGCCATACTGAATATAAAATATTTAAGAGTCATGTTACTACTATACAGCTATGTAAATGAAAACAAGTAATTCAAAGTACCTTTTTCTTGACCTGACTTCTTTCTAAGGGGATTTCCAGAGTCATTTATGTGGTTAAACTAGAGAGATGGTTAATGTAAAGTCTGAAACAAAAGCATAGGACTCATACCCTTGCAAATTACTCTTCTCACAAAAGGGGAGATTCGTATATTCTTGACTTTGTACTTCCTCTTTCCACTCCCCACTCAACTAGCAACTAACTAAGGCAGCTGGCACATTTTGGATCTCCAAAGCAGGCTTGCTATCTGGGCCCATTAGGTGAACTTGTTGGAACTGAGTGCCAAGCACACAGGTCGTGAGTTTCAGACTGTGCTAAGTACAGGTTTTCATAAATTCCTAAGAATTTATGACAGAGCTGATAAAACTTTACAAAGAGAAAAAATACTGTTGCCAAACACCATGGTTAACATCAGTGAAAGAGACCTCCTGGGGGCAACTGCCTGACTCAGTCCATAGGACTTCATCCCTCCAAGTAAACAACTTGAAGTCTTCTCCTCCAGGCTGGGAGGATCATTTTGGAATAGGATAAATGGTAATTAAATGAGAGATCCTGCAATTTAATTTCTATTAGTTCATGCGTATGGGCATTAAAAATTCCTTTTTACTTTTGGTTATCATCAGTTAACAGGAACATCTTTTACTTTGACCAGTTATTACACTAGCAATATTCATCAGCAGTTTTATGAGTGAAAACACTAGGCTTTGCACAGCAAAATTTTAATCCCAGATTGGTTCTTCTTTGCATCTTGCTATAATTTTTTGTACCGTTACATCTGTGTACTTAGAGAATGCAAATTTACTGCCATATTCATCCAAACCAAATACAATTACAAAGGTATTTTTGGTGCCAAAAAAAGGATAAACTGCATTCCAGAGTGAAAGGAAAAATAGGGATTGGGTGAACTATTGCTTCTCCTCTACTGGACTGGGAAAATTCAGAGCTGACTAGGTTATTGCCCACGCCCAAGGATTAGCTGAGATATTCTTTGGACATGGATTTTTTTTGGCAGGCCTCATGCCTCACACTTACACTTTAAACTGTTATTTACTTATGTATTTATTTTTTATTCTTACCAGTTTGGAAGTTGCAAGGGATCTCATAGACTACTGAGTTCAAAGTTTTATTCACTATTTGACTGAGATTTTTGAATGACCAAAGTATGTAAGTCATTGAGCAAGGTGTTGGCTAATGCATGGATGCACAGGAAGCAAAATTGACCTTAAGAAATGTGTTGTCTAGATTAATTCTAATGTCCTACTCTTGTCATTCCTTTTTGTATCAGCAACTTTAAGTTTTTTAATGGCTTACCATTATCTCGAATTATCTTGTGTCTTAGTCAGTTGGAGCAGCTAGAACAAATTCCCATAGGATATGTAACTTGTAAAGAACAGAACTTTATTTCTGACAGTTCTAGAGGATGGGAAGTCCAAGACCGGAGTGCTGACATGGTTGGGCTCAGGTTTGCAAATGGATGTCTTCTTGCTGTGCCCACACATGGTAGAGAGAGAGAGAGATCTTTTCTCTCATGTCTCTTCTTACAAGGGCACTAATCACATCAAGATGGCTCCACCTTCATGTCTTATTTACCTCCCAAAGGCCCCACTTGTCAATACCAACAGAGTGGAGATTAGGATTTCAACAGATGAGTTTAGGGAAAACCCTCACATTCAATCCATAGCATCTTATTCACTTATTTCTGTACTTGTTTCCAGGTTTGTGTCTCTCCATTAGGGTGTAAGCTCCTTAAGGGTGGAAATGTTTTCTAACTTTCTCATTGCTCTCCCACCAAGTACCTACAACAGGGCCTGTTAACCTTTTACATTCAATAAATAGTGTTGCAATGGAAGAATGACTAGTCATTGAATTGCTGTGAGATTCAAATGAGATGAGTAATGTAAAGTCATAGCATATTGGCTGTTACATAGCAGATGTTAATAAATATTTGTAGAATGAATAAATGAATAATCCAATCTATAGAAATAAATGCTCTACTGGGGCCATAAGCAAAGCCCCATAGTTCTACAGGAGAAAGAATGATTTAAGTACATTTAGGAAGGCTGGAGGAAGGTCTCAGAAGAAGTGGCCTTGGAATTGACTTTTGTATGATAATTAAGGATTTTGATAGGGAAGCAGGCAGGTGAAGGAGAAAGCATGCACTAAGGCAGAGACTGGCATCATCTGGGATCTGTGAGTATGTCATGTGCCCAAAGTAACAGACAGGAAATTAGACTGACAAAGAAGGTACAAGACAAATCAGAGGATCCTGAAGACCACACTTGGGATTTTTTCTTAATCATCTATTCAGCGATTCATTTAATCATTTGTTCAACAGGTATTTATGGCTTCCACTACTACTGACTACACAGTTCAAGGTACTGGAGAAAAAGAAACAAAAAGAACTTCAACGTCACTGCTCTCACAGAGCTGTCATCCTGATCACCCTTTTCCTACATACAGGAAACAGCCCCAAAGGGTTAAGTGTCAGCGTCACTTGCCAATTAGTGCCTGCAGCCCAGGTCTCTTGACATACTGTACTGCATTACACTAAGTTGTAGGAAACTGGTTGTTAATATAGCCACATCTTCACCTCCTCTGCTCACATGTCTCCTTTTCAGTGCATATGAAAAATACAAAGAACATTTTTTTATAATCTGGAATTCAGTGAACTTAAGTAACATAATGGGGTTCCTAGGAAACCAACAAGAAACAACAGATAGCTATTCAGGGAAATGAGGGTGGTGGAAAAAAATTGAAGACAAGGAATTCGGTGCCGTTGGTTTGGAAAAACTTTTTGAAATGTCCATAATACTTTAAGGCAATCTTAGAATTAGGAGTCATTCCTTATTTTGGTAATCAAACCCCTCAAATGATAATAACATTTTCCACTCAAATACAATTTAGTCCTATCTTATCCCTCAGCAGGGTACAAAATTACCTTTCTTTTTCAAAGAAGAGTTAGAATGTTTTCCTGATCAGAGGATTCAATAGATGAGAATCCCTTAAGTACTTTATGATGACCCTTGAGGTTGGTCAGCAGGAATTGATTTGGAGGAATTACTAAAAGCTATGTCTAAACCCAGCAGGGATCATAAAGATGCTTGAATACAAATGGCCCTGGATGGCTTTCATCAAAGGATCTCTGAGTACAAACAAAATAAAAGCAAACTCCATGCCTGTAAATGAAGAGGAGGCAAGTTGAGAAACTCTTTTGCTACTTATCTTGCTAATATGAAATATCCTGCACTGTTTTGGATGGTAGAAAAGATTTGATAATCACCATGTGAAAACATTTTTAAAAACTGATGTTGGAGACAGAGCACTCAATTGAATTACATATGGAACACCGACTGTGTGACCTTAGGCAAGGTAAAGCCTCTATGCTTTAGATTCCTGATTGTAAACTGGGAAAAATATCTTCTTTCCTCCATAGGGTTAGTTTGAGGAGTAAATTAGATAATTCACATGAAACTATCTGGCTCAGGTAGACATTCATTACATTCTTTCCAAAATGAGTACAATCTTTCTAACATATTATTTTTTTTATTTGAAAGATGGCTATATTAATACCTCCACAGAGATGGAAATCACCTGTTACAAATTCTAGAGTCAGACTCTGCATGCAAATTCCAACTTCTCCACTTACCAGCTAGAGATCTTGTACCAATTACTTAATTTCTCTGTACCTCAATATTCTTATCTGAAAATTGAAATAATTCCTACATCAGGGGGCTGTTTTGAAGATTAAACACTTCGTGCTACCTGTAAAGCTATTAGAAAAGTGCCTGTCACATAGAAAGTCCTTAGCCTTCACACATTTTCACATTTTTTCCTTGGAAAAAATGTTGGTTGGTGCATCAAACTTACAATGGCCTAATGTACTATCACCTAGAATGTGCACTAAGATTTTGAAATTTTCTGAAAGCTTTAACACCTCCTATCTCATTTCACTCTCCCTATCACTATATGAGCTGGGTATAGGCACAGATACATTAGATAAAATAGTTTGGGTCTTCTCAAAGAGGAGATTTTTCAGGTTTCCTGGCTGGTCATTTCTATCATCATTAGATAAAAGAATGTGTAATTTCTTCTCGAGTTTTTTTCCCTGGGGAAAAAGGAAATGGCAAACAGTCCTTCACCACCCCATAATTATCTACGATATCGTTCGTACAAAAGTAGTTCCTCATCATCCCCAGCAAAGTATTGAGTGCCTACCCATTGCTAGTACTGTTTTAGGCATTGGGCATACATGGGAAACAAACCAAACAGCCGATTTGGCATGTGAAATGGGAACAGGCATATATAACAGTACTTTACTGGCTGTAAATTACCATCTATATATCTAAAGTACTGTTTTATTTAATATAGTCTTCAAAATGTCAAATAAAACATCTTAAGAGGACAAGACCTTTCTTTAGAAATAAAGAAATTTAAAGATAAAAACAATCTATGCATATGCTAGCTAATTTATGCAGGAATTTAGCTTGTTCTTGGACTGAGTCATCTTTTATCCAGCCTCCTATCTCTCGGTAAAATATTTCTACATCCCAATTAATTACTGCTGTTTCTAACTCATGAATTAAAATTTGTAATTTGGGGGCTATAAGACACTTTACAAATCATTTACCAATGCTTTCAACTTAGAGGTACTGTGTCGCCCATCTCTATGACATTTAGCCTTCTAGAGCTTCTCCCTAGTGCCCTCCCTCTGGGAGGGGTTTACTTCTTGCTCCCATGATGGCAGGCTTGGTCATGTGATTTGCTTTGACCAACACAATGTAAGTAGAAGTGATCAATGTCACATTTGACCAGAAGCTTTAAAACATATTGTATGTACTATCATTGCTCTTTTTTTTCTCTGTTATAATAATAGCTTGTCCCAGAAGGGAACTGATTCTTCAGCCTGGATTTCCAACTGAAGAAGCTACATGCGGCTCAGCTACAGGTGATTAGCAGCTGATATGTAACATGAATGAGAAACAGACCTTTGTTTCTATAAGTCACTGACATTTCAGGGTTGTTAATGCAGCATAACCTAGCAAACTATTGCTATTTCAGAAATCAGTGTCCAGAGCCATTTTCCAATGAGGCTGCTTCTAACTCATGAGAGAGCCAGGACTAGATCCCATGTCTCCTGCCTTAGTCCAGATTTTGTGCACTCTAACATATGCTTTAAGAAAAGCAGGTCCTTTTCTTGGTCACACATTTTCTTTTCCTTCCCATATCCCCTAGTGGCAAAATGTGAACACTGCCCTACCTACCCTGTGGCACCCTTCTAATCTCTATCCAACCCTAATAAAAGGAAAACCACTTTGGTTCCAGAGACAATGGATCATTTGGGAGGGCTGAGGTGCTGTCCTCTGTGAGGTGCACAGGGAGCAGGTGAGGTCCACACAGAAGACAGAATAAACAGTAGTACTACTGGTCCAGGTAGGAGTAAGGTACTCATTTACTTTGAATCCAAGTGCTACTTCAAAAGGCATCAAAATATTTGTGCTCTGAGCTATTAGATAGTTGAAGTACAGGTTAAACTTTTCATAATATTCCAGTCAGTATCATTTCAGGTGATATTTATATTTTAAAAAGATGGAAGTAGTCCACAAGGTAGTGGAGTGGGGAAAGGGTAATCACATACTAGATGTATTTGATAAACAGTAATTCTTCTTTCAACATAAGATCAATAGCATGAGTATAGGTTCCCTCAAGAAACACTCTTGACATTTAAAATAAATCCTCTGAAAAGGAAAACTTTTTATTTTATGTGAAATGATATGTAGACCTTGATATACAGCCACTGAACAACATTCACTCTGCTCTCTCTGCATTTGACGTGAGAAGCCAGGGGAAACTTATCAGTTAAGACGGCTCTTCAATAGCCATCTTTTCAAGTACTATTTTGAAGCTACAGTAAACATATACTACCTAACCATAGGATCTTTCCTTTTACATAATGGATTCATTTAGAGAAGATGTTAAGGGACTTAAGTGAGAGAAGACGTTAGAGGTCATCTCGTTAATAGTTGTACAAAATGCAACAATTGTTTATCATCATCAAAAGTGGTCAGCCAGGTGCTGTATCTTTATTTTCAGCTGCCAAAGCTCTATTTTAAAGTAAATCCAGCAGCTGTAAAAATTCCCCCTTGACATTTGAATTAGATGCAAAGTTCTGCACAATATCGTGTGCACTGCTATGTTAACAGGATATGTATGGGTAGAAAGAATACAATTGATATTCAAAGCTCTTGTTTACATGTAGAAAAGAGCACAGTACTCAAGGCAAGGGCAGCAGAGGGTTGGGGTTGGGTAGAGTTCATGGTCCAGCTCACAACGTCTATCACATTCACATACTGACCATGGTAGACTTGATCTGAATGTGCAATTCATTGCCCTTGAGAGGTCCTATCATTCTGACTGACAGGTTTAGAGGAGGCCTCCTCAACAACAGGAACACCTGCACTGAGCAAAATGGAAAACCCTGACACTTCGACAGCCTCTTGATATCCAGGTTGTGGGAAAGAAAAGCCTCTTCCATGAAGCAGATGAGCGAGGAAGCAGTGGTGGCACATGTCCCTGGTCTAGGGCTTTCTCTTCCAGGCCCAGATTCAGCAAGTTGACGGCACTGGGGGCCCCTGCCTTTGCCATTTACCTATTTCCAAATAGGACAAGGAAAAGGAGACTTATTTCATAACTCCTTATGTTGTGGGGAGAGAACTGTGTAATAACATTTAATATATAAAAGCCAAAAACTATTTGGGTCAGGCAAAAAACATCTAATTAGAGTCACTCTATTCCCAGTATGTTTCAGATGTTTCCTGATTAGTTATGGAGGACAGAATGTGGGTGGAGGAAGAGGGAAGAAGGACTGTTCAAAACACAAGAATACTGCATTTAATCACAGTGTCAGATAATGCTGGGTTAAGAAAGCTAGCTATTTGCTTTACTGATACTTTCTGTGGCTCCATTCATATTTTCTCATTTCTCCTCAAAAATGACAGTCAATTTCTACAGTTGTTATTCAGCCAATGCATATATTAGATTTCATCAAGATAAATAAAAGAAAAACATCCCCAATAGTCCTGTGTGGAGAGAGGAAGATACTATCTTTTTAAGAGCAACAACAACAAAAAGCACCATAAACTTTTATAGAAGATAAGAATATAAGGTAACAAGAATCTCTGCTCTCAAGAGAGCGCTGCATTATCCTCTGCCAACTTCTTAGTTTACTGATGGGATCGAAAGCTGATGATTTATTGTAAACGGTAAAGAATATTGCTTTTGGGAGCTGTTTTAGCCTGGACTCCATATTCTCTTCAAAAATAAAAAGGAAACTTTAAATTGGATTTCTGACATTGGTTGTTTTCAGCCCAAAATCTATTAAGTAGATTAATTTTAAAATGGGGCACCATGGGCACAATATCACTTCCAAGAGGCTATTGCTTTGTGATGCCTTCTAGACAGACCCCTGAATCGCTGCAGGCACAATCCTGATAACCCTTGATGCTTTCACTGACCACTCACTCTTCTCTCCTGTAACCAAAGCTTTATTCTCCCCAGAAAACAGTGCTTCCCCTGAGGCCTACCAAATGAGAGCTCACACTCTGAAAACCCGGCTAGGCTGAGGAAAAGTGAGGGCGGGGTGCCTCTCTTCTGGCTTCATTCAAGCACTTTCAAACCATTGATATTTTTAGTCTAATACTTTCATATAACCCCAAATATAAAAGCTATGAAAGGGATGCCACTCAGAGGCAATCAACATTATTGGTTCCTTACATGTTCGTTAAAAGATATTGTAGGCATATAAAGGTAAACTCATACACAGATACTTCCTCTCAAACTCAGGCCACTCAACTATTATTCCCTGTTTTCACTCTGTATATTGCTTCCTTTCCTGAAGTCCTGGTCATTTCCCCACATTCACTAAGGACCATGTCAACTGGGTTCCTATATTTGTCTCCACCCCTTGTTACCATCATTCTGGATAATGTCAGTGTCCTTGGTTTGCAGCCCTTTGAATCTTTGAACTCAAATAACCCTTCTTATGTACCCCAACTTCTGCAACTCCCTCTTAATCTGAAGTCTTAGATGCAAAATGCATTCTGTGACTCTGCTCTCCATATCGTTGTGTATCTCTCTTGCTAATATCTCTCTCTTCGATCTCACTGAGCCCTCCAGACTTCACCCCTCTATATTCCCACAAGTTATCAGCCTTCTATTGATCTTAGAGGCCCCCAAATTCATCACTTTGGCTTCTCTTATTAATACTCCCTTGCCACCTGGCTGTTCAGTGGCATTCACCCTTCAAAACCCCTTCTCTAGAACAATCAAGTCATCAACATCTGGACTCCTCCATCTGGATTTCTGCAGGAGAAAAATTACAAACCCAATAAACTGTGTTGCCTTTCTTCCACCCATATCTTTATTCTCTTCTTGTTTGTCCCTTGCAATCTCTTTAAAACTGTTTGTCTCTACCATCTTAAAATATTTCCTTGATTCTAACCTTCTCTCTAGGTATCAATTATTTAAATCCTTGACCCTTTACACTCAAGCTTCTTGAAACAGTTTGTAATTGTTGCTTACTGCAATTTTGATTACTCTTCATCCCATGGCAGCCTGGTTCTTGCTCCACCACTGTGATGTAAAGACTCTTACTAATATTTGTAATAGCCTCTGAATTGCCAAAGCCAACGCAACTTCTAGCCTCTGTTTTACGTGACGTCTTTCTTGCGTTAACATTGTTGATGACTCCCTCCTTAATGCCCCTCTCCCTTGGCTTCTGTAATATTATGCTCTGGTGTTCTCCTTTTATCTCTCTATGTCTTCTCTTGAGTGCCTTCTTTTAATGTCTTCTCGAATTGTCAGCATTTCCCAGCACTCTGTTACTCAATACTTGGCACCTGAGTAAACTCACTGACTTTTCTGGCTTCAGCAATAATTTATACATGAATGATGTCTGTCTCCATATCCCAGGTCAAGAAATCTTTACTGAGATCAGATCGTTTTCCCAAATTCCCTCTGGCCATCTCCTACGGGACGTCTGATAAGCTCCTTAAACTCAACAGGTCCAAAGTATTATTATCAAATTTTCCATAAAACCTACTCATCGTCGTCCTGTGTTCCCTTTCACAGAAAAATACCTTACTCTCTTCACCGAATTGTGCATATCCTACACCTGAATATCAAAGTAAAATATTCCCAAATTAATCTCTAAATCCTTCAGGTTATAATTTCTTAATCCTTCAAAGCCATATCTTCTAGTCTATGCTTCAATTCAAGGGTTCGTCATGTCTCTTTTGGATTGCTATGACAGCCTCCTAAATAAACAGTCTTTCTCAATTCTTGCAGAGCTGTAGTCGCCTTCCATTGGCCTGCCATATTGGTCTTCAAAAGCAAAATCGAAACATACAGCATTATACTACCCATGTAACTTCCAAGCCCCACATCTTTCAGAGTTTTGCAACCCTTTGATAAGCACGTAAAACCCTCATGATCTGGCTCCTGTATTCCTCTCCAACATCATTTCCAGCCAGTGGCTCATGTTTCTCCAGGCTTTCAGAATTACTTTATGCTTTGTCAGCTCTCTTAAATTTGCATAGGCTATTCTCTTTGCATGGAAAGTTCTCCCAACTCTTTCCCATTTATCTAATTCCACTTCATCATTTAGAACACAAATGAAACCACATCCTTTGAGAAATATCTTTAGGTCTGATGTAGATGCTCCCTTCTCTGTGTCTCCACAGTATACAGAGACTTTCACAGTATACTTTTTCATCAACTTTCATGCTTACGCAGCTGCCAGTATAGTGCCTGGTAAATATTGGGCTCTTGATAAAGAATGAATGAGCTCCTAGGGCATGTTGTGACACATTCTCAAATTCTTAATGAAGATCTATTATTAGCTAGAAATTTAATTACTATATTCAAATACCATATTTTCAGGTGGTGAACTCACCTCTTTTTAAAACCATCTTTATTCATATAGGTGGCTTAAAGTGAAATGTTGGCTTAAGGGTTACTATTATTTCTATTCTTATACATTTCTAAGTGTGTGACAACTCAAGGTTCTATAAAACTACTTCCTTGGCAGAAAGAGAGAAGTTACTATTTAGTTTTACACCAAGCCTGGTTTTTTTTTTTTTTTTTTTTTTTTCCTGGAAGTGGTTGAGGTATCACCCTTAACATGAATGTTAAAAAGTCCTGGGTATCAGGCAACTTATTTATTTTAGGGCTGTGTGAAAATAATATCTTCTCTATATTTTTGTCCTGTGATATGTTAGAGCTACTCCTTCAGGGGCTTTTAATATTAAAATTCAAGATATTGCAATGATTTTCATGCATTTGACTCTGCTAACAGAGTTCTTGTCTTTTAAAATTTATTCACTACCCATATTTGGCTTAATTTAGGGATGAAAAATACAGATTCTAGTAGCAATAAAATACCCAGACAATGAAAACAAAATAAAAACAGTGGTTTTTATAATAACATTAATTCTGGACCTGGAGAATACTAAAATTTTTGTGAGAAAACAAAAGGTCATCTTAGAAGACAGAAAATACTCATATTTAAAAATAAAGACTTAGAAATTTAAAACAATACAGAGTTTCCCTACCATAGATCTCCATGCCTAATCAACTTGAAAGACACAGAGATGTCTGTGCTAATTATACACACTATACATTTAAGAGAGGGGTTAAATTATTTACCTGGCAAAGGTCCTTCAGTAACTTTAATAACTTGTGCAATGTACAAGTATAGGGCCCTGGTTAGGGCAGATTTAGTGGAGTATTTTAGACATCCTTTCTATGGAAATGATGGTATTACATTAGATATACATCCTCTTTGAGTTGAGAGAACATATAAATTAGTGAAAAAAATTCTCTAAATATCAATAATTGATGCAAGGTGGCTATTACAGCATATCACATACAATAGGGAGTAAATAAGTTTTAATAAAAAGTTGCCATGACTTCTTTGTTATCACTGAATCTAGAAATGTAACTGCTTTACCTGAAATTTCGAACGAGAAAGTTCTTCTATGAAATATAGCAAGTGATAAAAAACTATGAGGCAACTGTTAAGATACTTCAAAGGTGCCAATAAGAGTGCTACAGCCTAGGAATCAATCGTGGATCTGTCCAGTGCATTGATAAGACAGAAATCAGATTACCAAATCATTTTGCAAGTACTTTAATATAAGATGTTGACAAACTTGAGGGAGCTTAGAGAAAAGCTGATTGATTAAGAGGCTGGGAAAATGACTTAAGAGGCAAGATTATAAAAACTAAATATATTGTTCATTGACTAAGGAATTAAGTACTTGATGTACAGTACATATAACATTTTTCAGAGAGTGACTTAGGGGTATATGACACAAATTTCCAAGAATTCAAAATGCATCGCCATGAAGGGAAAGAATTGTTTATGATGCTCCCTGGGGGCATAACTAGAAGTCAGGGCATGAAATTGAATAAGAGAAGAGAATATGTAGGCTCTGTATCTACAAAGTTTTCCCAATAGTAATATCTATTAAATTGTAGAATGGCCTCACAATGGAAGCAGTGGAAAAGCCATCCTGTAAGTTATTTCACACAAGAGTGGACAAAGTATTCAAAGATATACCTCTGGAAAGAAATCTACCCCATTGCTGTGACAGAGAGTATAATGAATGATTCACTTGAGCTTTCCACTTCTGCTTTTAGGAGAGTCATGTGTTTTAAATGAGTATCTGTCTTCCACTGTGAATATATGTGTCATAACTTTGACTTTATGTTTATTCTTTCAATCATGTTTTGCTTTTATTTTTCTAAAAGTCATTTAGTTTTTTTATCTTTCTATTTGCCTGGAATATATTTTATGAAAATCACATTTGTAGTTAATGTTCTGGGCTTGCTATAGGTAATGGCTCTAAGAAAAAGCAATAAAAGCAGTTAGTATTTTAATGCATTTTACAATGTATTTTGAAATGTATACATCCAATCCTAAACTATCAGCCCTTGAAAGCTGATGAGTGAACAGAAACTTTCATATTTATTGCTATAAATCTCATATTAGAAGTCTTCTCTTTTAACCACTCATAAATATGTAATTTCTCCATATTTTATTGAAAACCACTTTTTTTGCTTACGGACATTTATTAATACTAAATTTTCTCTTACATGATAATTTGTGAGAAATGGATTAACAGCAATGTGTATACAGAGAAGAACTATCTGAGATTTTCTGTACATTGAAAAGAGCTACTAATTATTTAGTCTATGTGGTATATATACTTACATCTCATAAAATAAAACACTTAGCAAATTTATTATAGATTTCAAACGATTGCCACAAAACAAGAACCTAGGACATTATGTTGTTTATTCCATCTCACGTATAAGATCCATTTGAACTTAATAAGTTCTCCCACTGTAAAGCCGTTTCTTATTTCACAATTATTATATCAGCGAAGAACACTTCAGTTGTAACATTGACTACATCCTCAGGTACTTTGTTAATTATATCAATTTCAAATTGCCCACTTCGGGAATACTCACCACATGATTACACAGCATAAAGCATCCTTACAGTGAATCCTGAGGGAGGATTATAGAAGAAAATGGTGAAGGGAGGTTTTGGTTTGTGCAAATTTCCCTTAACTTTCTCTTACATTACATAATCCTGACCCTTCCCTCCTTGTTGTTTAAGTCCTAATAGGTCCTGTTGCTCCTAATTCTCTTCAAACCTCTGTCTCTTAAAATGTTCCAGAAAATCACCAGGGTAACTCTGAATGGTAAAATGTGTACAAATCGCTTAGAGGAGGTTTTCTCAAACTCAGCATTATTTACACTTCGGGTTGAATAAGTATTTGCTAGAGTTGGGGATGGGTGGCCTGTGTATTGTAGAATATTCACCAGCATTCCTGTCCTCCGCCCACCAGATGCCAGTAGCACATCCATCCTTACCCCCACATTGTGACAACCAAAACTGTTTCCAGATATTGCCCAATATCTTGGGGGTTGCGGGGTATGCCAAACCACCCCTGGCTGAGAACCACTGCTAGAGCAAGGTGGCACAGGGTAAGAAGAGCTACCTGTCTCATTCTCCTTTTTATTCTTCCTCTTTTTCATCTCCAGCATTCTATGGAGAAGGCAGCTGCAAGAAAGTTGGGCTGGTGTTGGTTGCTGGAAACGTTAGCCAGTCACTATCCTGGCTTCGTGACATTACAGAGTAAGATTTTGAAGCTCAGTTTTGTGAGCTTCAACAAGAAACATAGAGAGGCTGATGCATAGTGTCCCCCAGATGAGACACACTGTTCCTCCTATTGAGAATATATTAATGATAGGTTCACACTTACTTCTCTGAGCTAATGATGGGAGGTGCAAATGTCCATACTGCTAATACTAATAAGAAAAACATTTACCTGGAATTTCACTTTCTAGCAGCACAAACGTGAGTAGAACTCATTTTACAGGCTACAACGTTCTCAACTGCAACATGGGAATATTGTATGGAGAATTCTATAGGTTATTTCCAGTTTTTGTCTGTCTAGTTTCAATGAACTGGCCAATAGCATAAGAAACTTCTCAGAAAGTCCAGTAAAACAGTAATTCATTCATTTCATCAATACATATACTGTGAGTGTCAACTATGTGCAAGGAACTTCACCAGGGTCTAACAATACAGAAATGAGTAATACAGGAACCTTGCTCTTGTGGAATTTTAGGGGTAGACTAACATGTAAACAAGTGAGTGTCAAAAGATGCATAGTATAAGAAGGCATTAATGATATAACGAAGAAGAAAGTGGTCACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGCAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACAACATTTTCCTGCCTCAGCCTCCCAAGTAACTGGGACCACAGGCGCCTGCCACCATGCCCGGCCAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCGGGATGGTCTCGATCTCCCGACCTCAAGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGAAAAGTGGTCACTTTTAATTGAAGGATTAGAAGAAGCCCCAACTTAAGAGGTAATGCTTGGAGTTTGGAAGGATCAGAAGTAGTTGATAATCCTGCACACCTATGATGTACCAGCCTTTGTGCTAGGATACGTTATTTCCAGTCCTGATAAGGTCTCTGCAATTCATTCTTTATTGAGGTTTAACTATGAGAAAACTCAGGCTTGGATAGCTGAAGGGCCTGGCTGATGGCTCTACGCTGAGTAAGCAGCAGAGGCTGAATTTAAATTCCAGAACCATCATGGAGACTCCTCTAAGCAAAGGAAGTGACATTAATTTGCAGAGCCTATGAACATGCCCCACATAATATTAGAAATATGTTATGCTCAGGGTGTCTGGAGACAGAGTAAAACATGGGCTGGGGTAAGAGAGAGAGCGCTAAGGAGCAGAGAGGAACAAACCACAAAATATCCTGGTGCCATGCTAGTTTTGGGGTTTTATCATAGGGAATAGAGAGTTACTGAAGGGTTTTAAGCAGAAGAATGGCAGCAGTTTGGATGGAGCCTTAGAAATATCTCTTAGGCTGCTGTGGGGAAGAGGAGCTGAATTACAATCCTGCAGGCAGAGAGACAAAGGAGAAGGAGATTCTTGTTTACTGTGTAGAAAAGAAATTATGGTGGTCATATCCAGACCACTAGAAGAAGAAAGAGGAAAAAGGGCTCATAGGGGAAGATATTAAGGAGTTAGAGAGGCAACAAAGGAGTTGCTCATTAATGAAGAAAAAAATCTCAGTACTTCTTCCAATGGGAAGAGAAGAGACAATGCCTATACCTTCATTCCCAAGTTTTCTTCTACTGCCCAAACTTCATCAAGATGGGATGGGGACTAACATTGGTGGAGCATCAAACTCCTGTGAAGCAGCTCTCCCTTCTCCCCATGTGCAGTCACCTCCTATGAAGCAAATTCTGTCCAACCCTAAGAGCTACTCTATAGCACCTTCCTGTACTTCAATCATAGCCCTTGTCCCATCCTTAGCTGTTCACACTTTTATTTATTTATTTATAATTATATTTTAAGTTCTAGGATACATGTGCAGAATGTGCAGGTTTGTTTCATAGGTATACACGTGCCATGGTGGTTTGTTGCACCCATCAACTCATCATCTAGGTTTTAAGCCCCGCGTGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCCCACCTCCTCACAGGCCCTGGTGTGTGATGTTCCTCTCCCTATGTCCATGTGTTCTCACTGTTCTCCAACTTATGAATGAGAACTCCCACTTATGAGTGAGAACATGCGGTGTTTGGTTTTCTGTTCTTGTGTTAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTTGCTGCAAAAGACATGAACACATTAATTTTTATGGCTGCATAGTACTCCATGGTGTATATTTGCCACATTATCTTTATCCAGTCTATCATTGATGGGCATTTGGGTTGGTTCCATGTCTTTTCTATTGTCCATAGTGCTGAAATACACATACATGTGCATGTGTCTTTATAGTAAAATGATTTATAATTCTTTGGGTATATACCCAGTAATGGGATTCCTAGGTCAAGTGGCATTTCTGGTTCTAGACCCTTGAGGAATCGCCACACTGTCTTCCACATTGGTTGAACTAATTTACACTCCCACCAACAGTGGAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCATGTTTCCTGACTTTTTAGCAATCACCATTCTAACTAGCATGAGGTGGTATGTCACTGTGGTTTTGCTTTGCATTTCTCTAATAACCAATGATGATGAGCTTTTTTTCATATGTTTGTTGGCCACATAAATGTCTTCATTTGAGAAGTGTCTGTTCATATCATTGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCCTTGTAAATTTGTTTAAGTTCCTTGTAGATTCTGGACATTAGACCTTTGTTAGATGGATAAATTGCAAAATTTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGATAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCCATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGTTTTAGGTTTTAGGTTTTAGGTTTATGTTTAAGTCTTTAACCCATCTTGAGTTAATTTTGTATAAGGTATATGGAAGGGGTCCAGTTTCTTTTTTTCTGCATATGACTAGCCACTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCGAAGATCAGATTGTTGTAGAGGTGTGGTGTTTTTTCTGGGGCCTCTGTTCTGTTCCGTTGGTCTATATATCTGTTTTAATACCAGTATCATGCTGTTTTGGTTACTCTAGCCTTGTAGTATAGTTTGAAGCCAGGTAGCATGATGCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCTTGGCTATATGGGCTCTTTTTTGGTTCCATATGAAATTTAAAGTAGTTTTTTTCTAGTTCTGTGAAGAAAGTCAATGATAGCTTGATGGGAATAGCATTGAAGTTATAAATTGCTTTGGGCATTATGGCCATTTTCATGATATTGACTCTTCCTATCCATGAATATGGAATGTTTTTCCATCTGTTTGTGTCTTCTCTTATTTCCTTAAGCAGTGGTTTGTAGTTGTCCTGGAAGAGGTCCTTCACATCCGTTGTAAGTTGCTATTGTCAATAGTGGCTATTGTCAATAGTAAGTTGTATTCCTAGGTATTTTTTTCTCTTTGTAGCGATTGTGAATGGGAGTTCACTCATGATTTGGCTCTTTGTTTATTATTGGTGTATAGGAATGTTTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTCAGGAGTTTTTGGGCTGAGACGATGGGGTTTTCTAAATATACAATCATGTCATCTGCAAACAGAGACAATTTGACTTTCTCTCTTCCTATCTGAATACCCTTTATTTCTTTCTCTTGCCTGATTGCCCTGGCCAGAACTTCCAATAGTATGTTGAACAGGAGTGGTAAGAGAGGGCATCCTTGTCTTGTGCCAGTTTTCAAATGGAATGCTTCCAGCTTTTGCCAGTTCAGTACGATATTGGCTATGGGTTTCTCATAAATAGCTCTTATTATTGAGATACGTTCTACTGAATAGTTTATCTCAATAAACTATTAAGATAGTTTATTGAGAGTTTTTAGCATGATGGGCTGAATTTTATCAAAGGCCTTTTCGGCATCTATTGAGAAAATCATGTGGTTTTTTGTCATTGGTTCTGTTTATGTCATGGATTATGTTTATTGATTTGAGTAAGTTGAACCAGCCTTGCATCCCAGGGATGAAGCCAGGAGCTGTATTTTTGAAAAGATTAACAAAATAGATAGACCACTAGTCAGAATAATAAAGAAGAAAAGAGAGAAGAATCAAATAAACAGAATAGAAAATGATAAATGGGATATCACCACTGATCCCACAGAAATACAAACTACCATCAGAGAACACTAAAAACACCTCTACGCAAATAAACTAGAAAAATTTAGAAGAAATGGATAGATTTCTAGACATACACCCTCCTGAGACTAAACCAGGAAGAAGTCAAATCCCTGAATAGACCAATAACAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAGAAAAAGCCCAGGACCAGATGGATTCACAGTAAAATTCTACCAGAGGTACAAAGAGGAGCTGGTACCATTCCTTCTGAAACTATCCCAAACAATTGAAAAAGAGGGACTCCTCCCTAACTCATTTTATGAGACCAGCATCATCCTGATACCAAAACCTGGCAGAGACACAATAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGTACGTCAAAAAGCTTGTCCACCATGATCAACTGTTCATGCATTTAGTATTGGTTTAACTCTTCTTTAAAAACTGAGCTAGATTCCTTGAATCCCCCCAGTACCAAGCATAAAATAGGTCCCCGTAATTATTTGTTGAATCAGCCACTCGAAATCCCTCTTGACAGTGATAATATATTAGTATAAAAAGATAGATGAAGTAATGCATATGTTTCTTTGTTTTGATTATATTTTGATTAAAACATACCATGTGTGTCTAGGATGACCATTTTTCACCCATAAAAGGAGTGGGGATGGGGGACACTTGCCACTTATTATGTATTTGAGGGTAATGGGATCTAATATGTACAGAGATGCTTTTTCTTTAGAAATATGGTTGCTAAGGCCAGCAGTCCAAATGATAAGATGAGGTTGTTGTCATACAAACTGAAATGTGGTGAGGAACCAGTAAAGTAGAGATTATAGAATTGTTAGAAAAGGGTTAAAGAAGGCTGATATACTGTGTAATAAGTGCTCAGAAAACAAACTTGCACAACCACACAGCACAGGAGAGATTAGGATATGAGATTGCTGCAGCTTCATCATCCGGCTCCATCATCATAAAGAGTATCATTTCCATTGCTAACAGCTGGGAAAACAGGCACCAGTAGTGTCGTTGTTGGTTTCTTTTCTGTGTAAACAAACATTTTTCAATAGCAAAATTGAAGGGATTTTCTCTTAATTTATAATAGGAACAATGATATCTTCAGAATGAAACCCAGTTTGCTGAGGGAAGAAAATGGACAATCGATAGGGATGGTGTTCTTAAGGTTGCAGGGCTGTTTTCTTTTTTTATGAACATTTCAAAACATGAACATTGTCTTTCAAAATGGCCACCTGGGTACTCTTTCTCTCCTAATGTCCCCACACAGAAAATTAACTAACGAAACATGTAAGCTAGAATGCTGTTTGTTTGAAGGGTAGTATGGAATTATGAAAACAAATTAATTAAGATGTCTCTTTTTATGGGACTTAAATATGTTTATATTGATATGCAAGTGTGAATTGAGAGAAACACTCCAGCCTACTGAGTTTTTTTTAATGGAATTAAGAAGCTCCCAGTAGTTTGTTACAATACCTCAAGACCATGTGAGTCACTTACATTTTAGAAAGTGCTTTCCCATATGTGATCTCATTTAATCCTATGGCATGCTTGTAACATACAAAGTGTTTTAGAAATGTTTGTAGATTTGGCAAAATATAGCTGAACTGAAAATTTAATTCTTTTAGAAAGATATACTAACTGTCTTGTACCCCTGTACTAAGTGACGTCATTGTCTTTGAAGTGTTTCCAGTCTAGTGAAAAAACATAAATCCTGTAAAACAGGTACAGTGAGCTCAATGCTATTAAAATGGTAAAATGAGTAGCAAACGTGAACTTGGGGATGGTATTGTCAGAGAAGGGGATGAATCCTGGGGCTCTGCTTCATACATTAAGGATTCATATTAAGAGAAATAATTCTTAACAAGGCAGCACATCAGAATCAGCTCAGGAGCTTTATAAATGGAGCTTTGCAGATGCTTTCCCCATGAGATACTGATTCACTGAGTCAGGCATCAGTTCTGGACATGTATGTTTAAAAGAAAATTCTAATGCAAACCATTGGTCATTTTCCTGGAATTGTGGTACTTTCTTTCTGCAGTCTAAATTATACTCTATAGCTAAAGCCTGAAGTCTTTGGCCAAATTTCTTTCTTTCCTTTAGCTTTAGGTTCTGTTGCTTTTAAAAGCAAATAATTTGGGAAGGATAAGGCTTTAAACTGTTACCAGTCGGTAACTCACTTTGTTCCCTCTACTTAGATTAATGATTCCCCACTCCTTCCTTGGGTCAGCTTTCTTCCTATGTGAATCATTTCCAGATCAGCTTCTCTTTCCCTTGGACAGAATTTATTTTCTCTCTTCTCCCATCCTACAAACCCTCAGTTGTATTTCAGCTATCACTGATCTTACCACAATTGACTCAGGCAACTATCTGGCAGGGAGGTTTCACATTTTATTTGTATCCCTAGGTCTTTCGTTGGGACCTGCCATGGCGATTGAGAGGCAAAGAAATGTTTGTAGAAAGAATGAGTTACATAATTCATTAGAAAATTAGCTTTCAGCCTGGTCTACAAGAAAGATTTGCTAGTTGTTGTGATTTGTGAGGAAATAACTTTTGGGCATTTGGTAAGGATGGAACACAGAGATGGGGTGAGTCAGGTTTGTAGATAATTCTAAGAGAAAACAGGCCACAAAACATAAGATCTGCTTTGCCATTCTGCCTATAGCTGGCTGAGAAATAACCATTCTATTTTTATATTGAAAATAGCATATATACATTTTTTTGTTACACAAGGGATGCTCTTACAAAAGGTTCAGAAGAAAATGGAATCATTTGCAATTGTTTATTCTAACTAATTGTAACTTCAAATCAAAATTAGGCACTGGCCCGCAATCTTAAATTAGAGCTCTGCCTTTATAACACTGATTTTCCTTCATAAATGCTTTCTTAGTTAAGACTTTGTATGCGTATTTATATATTTTTTAACTAATTAAAATCCACTTCCCTATCTAGGTTATCTCCTATGGCTAAATGAAATAATTTTGTATTAGTTATTCATATTTCTTTTTTATCTGTTACAGAGATAGTACAGAGATTAAAATAGTAGGGGTTTTATTGTCTTTTTCTTTAAAAAATCTGTTTTTAGCATTTCAGGAAAAAAGAAAATGCCAGAAAATCATACGGAGTGCTTCTGGCCTTGAATAGCTATGCATTTTAGACACTTGGCTTGTGTTTGAGCCAAAGGAATACATTATGTTTTGCAGAATTCTATGAGAAATGAAGGCCTTTCTGTAGTAGTGACATCAAGAAACTTCAAGTCCAAATTTACTATTAAGGTTGGAATTTTAATGTCAAAGGTATATTTCAGCTATTTTCATGAGTAATTCAAAAGGGACTGACCAAGAAAGGTACATCTAATGTGTCATTGCTGAATACAGCTAGTTACAGTTTTTGGCTTCTTGTCCTGCCAACACTGCCAGGGTTGTGGGTGTCGAACTGGGAAGTGGAATCTCACTGCACTAGGTATTCTCTTACTTTATGGGATTCTCTAGTGTTTTTCTTGTGCCAAGGCCTCTTAAAGGACCTTGAATACTGTTGTGGACTGAATATTTGTGTCCCCCCCAAAATTGATACCTTGAAATTTAAATGCCCAATATCACAGTATGTAGAGGTAGGGCCTTAGGATGTAGGAATGGGATTAGCAACCTTATGAAAGCAACCCCAGAGAGCTTTCATCCTCTTTCCATCATATGTCACGTGAAGCTACAAGAAGAATTTGGCAATCTACAACCCACAAGAGAGCCCTCACCAAAACCCTACCATGCTGGCACCTTGATCTCAGACTCTCAGCCTCCAGTACCATGAGAAATAAATTTCTGTTGCCTATAAGCCACGAAGTCTAAGGTACTTTGTTATAATAGCCTGAATTGACTAAGGAAAATGCTTATTTTGATTCTAACCCTCTGCTATGTTTCGAATGACTGTCCTCTCCAAAACTCATGTTGGAACGTAATCCCCAATGTAACAATATTGAGAGGTGGGGCCTATAAGTGATTAATTCATTTACTGGTTAATGGATTAATGGGTTAATGGATTAATGGGTTAGCATGGGAGTGGGTTAGTTATCATAGAAGTGTGCCTGTTACAAAAAGTCAGGTTGGCTCTTTCTTGCAAACTCCCTTACCGTGTAATGCTCTATGCCATCTTGGGACTCTGCAGAGAATCCATACCAGCAAGAAGGCCTAGAAGACCCTCACCATATACTGCCCCTAGACCTTGGAGTTTCCTGGCCTCCAAAACTGTAAGAAATAAATTTCTTTTTTAAAAAAATTACCCAGTCTCAAGTACTCATTTATAGCAATAGAAAAGGGACTAAGACACCCTCCGAAGACATTTAATGGTAATAGTAATAATAACAGCTGTATCTGTTGTACACAGACTGTGTACCAAACCCGTATATTTTAAAGATAATCTTCAAGCAGCTTTATAATGCAGATGAATCCTTCCCATTTTACAAATGATGAAACAGCAGCTTAGACAGTTTAATTGACACTCTAGATCTCATAGATAATACACAGATTTGAATTTGAGTGTTTCTGATTCATATATCCTGTACTCTTTACATAAAAGCTAAAAAACAAAAAAATCAAATGAATGGTTTTGGAGTGTTTGAAAACCTGGAAAGCTCTTGAGGCCTTAGTTAATATCTGCTAGAATGAGACTATCTGGATTCCAGAGACCTGTGACAATTATTAAGAAGCCCTAAGTCTTTTAAGGCTGCTGCTGCTGTCCATGAGGAAGGCCAGCTCAGCAGTCTCATCAACAGAAGACCCAAATCTTGCCTGCTATGGTGTTACAGTTACACAGTCTCATGTAAGGTCAGGCTAGTATTGGTGCAACTATATGCCTCTTAGAGTTTAAAATGTTGCAGAGACTGACTTCAGAATCAGAATACCTGGTTATATGCTTCATTTCTATTCCACAGTTTCCCTAACATTTGACCCTTACAATTCCCCTCCAACCTTGATCCTACTCTGAACCCAATCCTCACCCCCATTCCTCCAATGCCCAGTAGGCCCTGGAACAAAGCAGCTAAGGGCCCTTGGTATGCTGGTATGATTGCAACATCGGAGTAGGAGACAGCAAGTCTTTCAGATTACTATAGACATAAATGATGGTCTCTTTATATACTGTCACTTAATATGTCATTGGGGATAGATTTTTTTGCTTTTACTCCAAAATATCAGACACATCTTAGGTATTCAATGAATGCTTGTTGGTTCAGCCCAGTTAAATATTTTGAGGCCTGCTGAGCGCAATGCACAGTAATAGACGCTGCAGGTGTGAGCCACTCCCTACCTACAAGGAGCTTTTGCTCTAGTAGAGATAGTGAGGCATGTATGTGGGTTTTTATGGATTAAAAAGACTGGAAAGAAATGTACTTTGAAAAGCAGCACAAGACAAGGATGCCCTCTCTCATCACTCCGATTCAATATAGTATTGAAATTCTGGCCAGGGCAATCAGGAAAGAGAAAGAAATAAAGGGCATCCGAATAGGAAGAGAGAAAGTCAGATTATCCCTGTTTGCAGATAACATGATCCTATATCTAGAAAACCCCATCATCTCAGCCCAAAAGCTTTTTACATTGATAAACACCTTCAAGAAAGTCTCAAGACACAAAATCAATGTGCAAAAATCACTAGCATTCTTAGACACCAACAACAGGCAAGCTGAGAGCCAAATCAGGAACAAATTCCCATTCACAATTGCCACAAAAAGAATAAAACATACTTAGCAATACAACTAAGTGGGAAGGTGAAAGATCCCTACAAGGAGAACTACAAACTCTGCTCAAAGAAATTAGAGATGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGAGAGAAGCAGTATCATGAAAATGGCCATACTGCCCAAAGAAATTTATAGATTCAATGCTATTCCCATTAAATTACCACTGACATTCTTCACAGAATTAGAAAAAAACTATTTTAAAATTCACGTGGAATCAAAAAAGACCCCAAACAGCCAAGACAATCCTAAGCAAAAATGACAAAGCTGGAGGCATCACACAACCTGACTTCAAACTATACTTACAGGGTTACAGTAACCAAAACAGTGTGGCACTGGTACAAAAACAGATACCTAGACCAATGGAATAGAATAGAGAACCACAAAATAAGACCACTCACCTACAACTATCTGATCTTTGACAAACCTGACAAAAATAGGCAATGGGGAAAGGATTCTCTATTCAGTAAATGGTGCTGTGAGAACTGGCTAGCCATATGCAGAAGATTGAAACTGGACCTCTTTCTTACACCATATACAAAAATTAACTCACGATGGATTAATGACTAAAATATAAAACTTAAAACTAAAAAAATCCTGAAGACAACTTAGGCAATACCATTCAGGACATGGGCATGGGCAAAGATTTCATGATAAATATGCCAAAAACAACTGCAACAAATGCAAACATTGGCAAATGGGATTTAATAAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCAGCAGAGTAAACAGACAACCTACAGAATGGGAGAAAATTTTTGCAAACTATGCATCTGACAAAAGTCTAATATCCAGACTCTATAAGGAACTTAGATAAATTTACAAGAAAAAAATAACCCCATAAAAAAGTGGGCAAAGGACGTGAACAGACACTTTTCAAAAGAAGACATACATGTGGCCGACAATCACATGAAAAAACCGATCATTAGAGAGATGCAAATTAAAGCCACAATGAGATACCATCTTACACCAGTCAGAATGGTTATTAGTAAAAAGTAAAAAAATAACAGATGCTGGCAAGGTCGTGGAGAAAAACGAATGCTTATACACTGTCGGTGGAAGTGTAAATCAGTTCAGCCATGGCAGAAGACAGTGTGGTGACTCCTCAATGGCCTAAAGACAGAAATATTAATCCCACTCAACTCAGCAATCCATTATTGGGTATATACCCAAAGGAATATAAATCATTCTATTATAAAGACATATGCATGCATATGTTCATTGCAGCACTATTTACAATAGCAAATACACGGAATCAAGACATATGGTCATCAATGTTAGATTGGATAAACAAAATGTGGTATATATACACTATGGAATACAATGCAGCCATAAAAAAGAATGACACCACATCCTTTGCAGGGACATGGATGGACCTGGAGGCCATTATCCTCAGCAAACTAATGCAGGATCAGAAAACCAAATACAGCATGTTCTCACTTGAAAGTGGGAACTAAATGATGAGAATACATGGACACATACAGGGGAACAAGACACACTGGGGCCTTTCAAAGGGTGGAGTGGTGGAGAAGGGAGAGGATAAGGAAAAATAACTAATGGGTACTAGGCTTAATACCTGGGTGATTAAATAATCTGTACAACAAACCCCCATGACACAATTTTGCCTATGTAACAAACCTGCACATGTGCCCCTGAACATAAAAGTTAAAAAAAAGAAATGTGCCAAAATATTCATAGTAGTTGTGTTTAAGTGATGGGACCTATGGGTGTTTACTTTTTGTTTACATTTCTACATAAATCAAATACATGTTGTATAGATGTACTTTATTCCTTGAATAGCCATAATGTTGATTTAAAAAAACAGTAACTTGAGTACTTGATGGAGAGGAAGTTCATGTGGCTGAGGTGCTAAAAACTAGTTAAATATATTAAATAATTATATTTAATATATTTATATTTATTTAATATATAATATATTAATTTATTTAATATATAATACATTAATTTATCTAATATAGTTATATTTATTTACTATATAATATATTAATTTATTTAATATATTTATATTTATTTAATATATAACATATTAATTTATTTAATATAGTTATATTTATTTAATATATAACATATTAATTTAATATGTTATATTTATGTAATATATATTAATTTATTTGATATAGTTATATTTGTTTAATATATATTAATTTATTTAATAGTTATATTTATTTAATATATTATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATATTAATACACACACATATTTTTTGAGACAAGGTCTTGCCTTATCACCAAGGCTGCAGTCCAGTGGTGAAATCATAGCTCATTGTAACCTCAAACTTGGGCTCAAGTGATCCTCTTACCTCAGCTGCCCAAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTAAATTATTGTCAAGTTTTTTGAAGAGATGGGGGTCTCACTATATATGACTAGTTGGTCTTGAACTCCTGGCCTCAAGTAATCCTCCTGCATCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTGCCTGCCCAAGGGCTAGTGATATTTTTGACACGAATATGACTTTGACAGGGAGAAGAGGGCTTGAATTCTTAAGGAAATATACATGAGAAATGTAACAGCCAGGAATGAGAGATGAGGAATCCTGAGGTGACTAGGTTATCAGGGAATAGTTCTGTTTGTCTGGACTAAAGAATATGTGTAAGGAAAAGGGAGAATTGAAACTAGAATGTTAGGCTGTGGTCAGAACATGGAAGACTCTCAGTATCAGAGTGAAGTATCTGGACATATTTCCGTAGAAAACTGGGGGTCAGTCACAATTTTTCAACTGGAAAATATGATCACAGCTCTACATTAGCAGGTAGCCAGGTGCAGCACAGATTGGAGATGGGGGAGACAGGAGGGAGGGAGACCAATCAGGAAGTGATTAGCCGGGCCCAGCCAAGAAGCAATGATTACTTGATTATTTATTCATGTATCTCTCTTTCACAGAGGTGGCTCCATGACTTTTCAATTTTTCTTTTTAATGTTTTGCCTGTCTGGCTCCAATTTTCAATTGCAAAATAAGAAAAGATTCACTTTGAATCCGTAGCTCAATTTGCTCTCAGGTGAAAGGCACAATCTTGAGTGGAGGTTAGCCTTAATCTGTCACATTTCCACTGATAAAGGGAACATTTAGGACAGTTGTTTTCAAGGCTGGATGAGTCCTGTCTCTTTGATTGATTTCTAATTCCTTCATTCACCTAGGAGAGGAGACGGGTCTCTGAAGTTCATGGGATCTTTAACTTCCCAGTTAGAATGGCTGAATCTTACAGCAAATAGAGCAGGTCAGCTAGGTCTCCTTAGAGCCAGAGTGAGTACAAGAGTAGAACAGAGTTCCAAAGGACCGTTACCAAAGATACCTGATTGAAAAACTTAAAACATAAAACTCACTGTGGGCTCCCACCCTTTATGGGCACACAGCCCCTTGCTCTTTTGTAGGGGGGAACTCTTCTTTCCATATTACTGCCCCAGCCCACAGATATGGAGACATCAACAAGTATTTTTCCTTTCATCACTTGGAAAGCGCCTTTGCAAAGATTATAACTGAGAAAATTATGATGGTGAAAGAGATCTGACCTAACCGACTCCATCTTGCTTTTAACCTCCAAGCTGTCCTGATTCATTCCTGAGTGTAGGCCAAACTAACTTTGGGAGGAGCTTAGTTTTTAGTTTAACTAGGAAACAAAGACGGTAACAGCTCTTTCTCAAAACAAACCCCCTTCCTGACTGGGGACTAAACTGTCTTTACAGGACTAAGAAATTAGCCACAAGATTAGAAATTATGGTTTAGGAGTCATGCAGCTGGAGGCTGCAAGATTCTCAACCTCCCAAATTGCTCCTCGGGATAACATCACTATTCTAAAATCTAAGATCAGTGCTTAAGATATTTTGCAGAACCTGCACTGGATGGATCAGCTGGCACCACTCAGATCAATAAACTGGTTCATCTGGCCTCGTGGTCCGCAACCAGGAACTGACTGAGCACAAGAGGAGAGCTTCAACTCCCTATAATTTCATCTCCATCCTGACCAATCAGCACTCCCCACTTTCCAACCCCCCCCCACCCCAAACAAATTATCCTTAAAAACTCCAATCCTTGAGTTTTTGCAGAGACTGATTTGAGTAATAATAAATCTCTGGTCTTCCATACAGCTGGCTCTGTGTGAATTAAGCTCTTTCTCTATTACAATTCCCCTGTCTTAATAAATTGGCTCTGTCAAAGCAGCGGGTAAGGTGAACCCGTCAGCTGGTTAAAACTTCTTCCATCCTCCTTCCTTTCCCACCCCATTTCTCTTTTGGGTTGCTGCTTCTAGGATCAATCACCGGGAAAGGTCTAGGCTCTCCTCTTCTTCCTGAGTCCACCTGCTAAGCACAATGTACCTCCTTGCTGGCTATCCCACCTAATTGTGACTGTTTATGACCATTTGTAACCAGACTTGTGATCTTCCATGCAGTAGGAAGACTGTGTAAGTGTACCCATGTTTGTTTATCAACCTTGAGCCCTCCCAAGCATCCTTGAGTCTGAATTTGCATCATAGTTGTTGTACACTTACCCTGTGGCTTTTCATTCCACCCAAGTTCTCCATTCTAGTTTTACTAGAAAGACTTAAGCTTTAGTATTTCTTGGACTCACATTAATGAAACTGCTACTTTTGAGTCCTTTTGGCTTCTTGTATCTTTTGCCTAGTAGCTAAAATAAAGAAAGGCTAGTAAGTGATTAGCACCATTAACCTGCAACACTCTGAATTAACTCATCAGGATACTCTGAAATGCCTGCTTTTTCAGGCCTTTATGCAGGCAACGCCCTCTTCCCGGGATGCTGTTGCCTCCCTGACACAGCCCAGCAATTCGCTCCTTTGTGAGGTTAAATGCCTGTCTTTCTTGTGTGCCCCAAATACTCCATGCACATTTTATCACTGCAATTCTCCCTGCCTTATAATTGTGTACCTTTCTCTCCCTCAGGACTATCATTTTCTTATTATCCACAGTAAGTCTTCAGACATATTTGTTGAATTTATAAGTGAACGATAGGTGGAGACATTTTTTTAATACCAAGGTTTCACTTCATCACTAAGTAACACTGCTTTGTTTTTGACATATCTTAAATATGCAAGCCATTTTCTAAAATAGCTTGAATAGCTTTTTCCTACTTCGTTTTCCTCATTTTCTTAATCTATCAAAATATTAGTACACCAAAGACCACAGATATACAGGAAAGGTTATATGCATATAAAGAGGCACATTTATCTAAAAATCACTACATTTTTTCTGGTTTTCAAGGATAAAAGTTTACTTGTTGCATGCCCATATAATTAGATACTAGATAAACAGGATACTGAACTTTCCAAGTGTCATTACACAGCATCCCTCTCAAGCTGGAAATGTGTTTACTCAGCACATCGGGGAGTCATCTGCTCATATGATCAGCAACCAGGGTTTATGAAGAAAATTACAGCAGTAAAGTATTATTTCAAACACTGCTTGTGTCAGGACTAGTCAACATGCAAAACATTCTCAAAGTCAGATAACACACAAAGGCAGCAAGTGTGGGGTACTTAACCGCGCCCGTGGATACAGAGGATGTTATGGATGAGATTCAGGGGCCTCCCTGCAACTTTACGCACAACTTCGGATATATTTACTTTTCTGTGGAGTGGGTCCACAGCTTTCATATCTCAGGGATAGCAGCACATATGTATGAGCTCTGTGACCACAGGCATGCTCCTAACCTCTGTGTTTTCACTGACTCATTTGTAAAGTTACCTAACCTGTGTTTATTGAATCACTTGTAAAATAACAGGATTAGCATAAGCATTAGATCTCTAAGATAATGCAGCTTTAAATTCTATATTTTCCCTAATCCATGCTTCATGGAGATGCATTCATGCAAGACTTAGTAGTAACGGAATATTTACGACATGTCAGGCATTGTATTAAATACTTCACATACAATGCCTCATATGTGAAATCCTCAAAGTAATCAAAAAAGGTTAGATACTATTATTCATCTTATTATTATTATTTTAGTATATTTAACATATTATTATCATCATCAGGACTGTCCCACCAAATTATAATTTCTATAAGGGCAGGAACCTTGTCTGTTTTATCATATTCTTCCCTGTCCTATGAACTCTATCAAAGTTCTCATATGTACTGTATTTAGGTTTTAGGAATACAATTTGATTAACATAACCTTCCCAAAGAGAACACTAGTTCATCAAAATGATCTCTGTAATTGGTGAAATTTTAGAATATTTGTGAAATAGTGAATAAGAACACCTATATAACCCTGCCTATAATATCCTGCAACAGCAAGAATCTGTTCTTAAAGAATGTGTGCTTCAACCAGTATCCATGGAAGTGCCTTCATTTTCTCTGCGGCCTAGGCTTTCCAGCCCAGGACAGCAGCATTCACCCAGGGGTTCTGGTACATACATTTGTCCCTCTTGCTCTGCTATCCTCCTGACCACATCCCTGGCTTGCTTTGTGTCCAGACAGACAGATCCTAATTGCAGTACATAATGAAAACTTTAATAGAGTTCATGGGACAGTGAAGAATGAAATTTAATATAATCCTGAAGCAAAGGAAAATTTGACAAAGGATATGGCTGGGTCCATAAGCAAATGGTAATGGGTGAGGGGAATAAAGGGAAAATTGGGCTCTTCAGGGTTGGGAAGCAGAAGAGGAACAGGTAGGCAAGAAGGAATGGGAGGACACAGAAAGTGAGGTGAAATGAAGTCCCATTATAATATTGTTTGGCTCTTTCTAGTCATGCATGTGTTTCAATGCATTTTTGAACAGACTTTTTATTGAGCACCTTTTATGTGCCATGCACTATGATAAAACATACAAGTTTCCTTCCCCATAGAAATTATAATTTGGTAGGACAGTTCTGATGATGATAATAATGATTAATATACTATAGAATAATAATAATAAAAAGATAAATAATAGTATCTAACCCTTTGGATTATCTTTGTTTAGTGTCTTATTGATACTTTTGTAGCATCTCACCTTAGCTAACCCTCTGGTTTTAGCTACCTTATCCCATCTAAGTGCTGAAAGACTTGAGAGATATCCTCAGTAGGATGGTCTGAGATAAAGATAAGAAACCTTCCTCATCTTTGACTGAGAGAGGAGTGACCTACTGGGTTGCTTCCCTCTCTTGTCTTTGCTTCCTTTCAGCAGCCTGAATGCTAAGGCACCAAGAAAATCATCACTCCAAGGGAAAGGTGCCTTCTCTTTTCTATTTTAGGGTCTTAGCAATTGCTCTCCTTTTGCTTAGTGCACTCTTCTTCCATAGCTTTGCGTCATTGCTTCCTAATATTTCAGGTCTCCATTGAAATTTTACATCCACAGATCATCCTTGACTCCCTAGCTGGAATGGGCTCCATACTAGTCACTCTCCAACACACTATTTTCTTTTATCTGCCTTTATTGAGGTTTGAATGTTTCTATGTATGCATGTACTTCGCTGCTTACATGCTTATGATCTATTTCCTCCCACTGCTATGAGTATTCCTGACAGCAGAGGTTCTGCCTGTCTTCCTCACTGCTGTATCTCCAGGGCACTGGACATGCCTTGTCTGGCTTACAGTAGGCATTTATGAAACTATATTGCAGCTCTTGCAGCTCTGAAATCTCCAGTGGGATATATTTGAGGGAAAGAAACTGAGGTAAACAGAATCTGCTGTAGGGATTACTGTCCTCACTCTGACAGTCCTTGGCTATATATATATAGTCCTGGCTGAAGTGCCTAAAATACCATGGGTGTTCCGAATAGTCAATTCCGAAGGTCAATGGTCCTTTACTCTCTAGCTTTGTTTAAGAATTCAGCTTAGGGCCAGGCGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCAAGAGGTCAGGAGGTCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCAGGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCGACAGAAAGAGACTCCAACTCAAAAAAGAAAAAAAAAAAAATTCAGCTTAGGAGGATGATGCTCACCTTTATTTTGCTGTTGATAATATTGCTTTTGTTTTACCAACTGGTAAATTTTAGGTGAGCATAATTAGAGTCTGCAAAAGTTATTATAATTGATAATCTTATCTTTTTCAACCCCTGGGCTGTTCTCCTCCTCTCTTCCTTCTCCTCCTCCCTTCTCCATCTTCTTCCTTTTCTTCTTTTTCTATTTTAAATAATCATTTTTATGTAAAACCATTCTTCATTTGAGTTTTATTCCCAATGGAAATAACGGCATCACTTTAATTAACTACAGAGATATACACAGCTAAGCAACTGATATGACAAAATAGGTTTTTTATTTTAGAAAGTGTTATAATGGGTATTAGCAAATTTCAATGTATAAAATAAAGTAGATTTTATTAATAAAAGAAGAAAGTTTTTGAGTAGCTTTCCAAGCTTTCAAATGACTTGACTTTTTATTTTTGAATTTTAAAAAATGTACCTCACATTAACACAGACACACACGCAAGTGGGCTATTTATACAGGATTGTCTGTTACCTGATATATTAATAATATGGCCAGTGATAATAATAACAATAATAGCCTCAGACAGTTGAGTAATTAATAAGTTCCAGGCAAAGTGGTTTATAAAAGTTATCTAATTTAATCCTCAAAACAACCTAATGTCATGCAGTATTATCACCATTTTACAGACGATGAAACTGAGCCATTAGTCAGTATGCAGCAGAGCTGAAATTCATACCCTTGTTTGTTCAGTTCTCTGTACACCATCTACCGGGGGGAGCCTTGTAATTGAATACCTTTCCAATAATCTACTCAGTAGTCTTCTCAGAAAGATTCCTAACCATCCAACCATTCATTTGTTCTCCAGCAAAGTAGATTTGTGGCAGGAGATCCTAATTTATTTAGATAATCATATCTCGCTACCAAATATTTGACAACATTATCCATTCTGCTTAATTATGCTTTCTGAAGGTATCTGTTATCTTTAATGGGGTAGAATCAGAAAAGAAGGCTGAACAGGAGAGCAATAAAATGAAATGAGGCAAATTTTATGAATCATATTTTCCCAAGAAAGGGTCATTTCAACAAACACACGGTCTAGCCATGTATAAGGCACTGTATAGAATTATGCATAGGAATGAGATACACATCCCAACTTCAACAAGCAGATAAGCGTGTATCTGGAGGAGACAGATATATACATAATTTGTGATGGTAAAAGGTAGAATTATTGTCATCATTTATTGAACACTTAATACATCCTATGCATTGTGCTAAGTAATTATCATTTTAAAATTTTATACCAATTCCAATTATTACTCCCATTTAAAAGATGTAAAAGCAAAGGATAAGAAAGCTGTTTAATATTGCACCATTCCTAATGGGTGAATCCTGCCTTCAATCTAAGGTATGCTTTATGGTAAGGCACTGGTCCCATATGGCTATGCTGCCATGCCCTGGGTGGGCACTGTGACAGGTGCTAAAAGAAGGTAGAAGGTTGAATTCCACACATCAAAAACTGTGATATAAGCATCAATCCCAACCAAAAATAAGTTATCTTGATGTTATCCATTAGTCTCCACAGTTTGCTAGAGTAAAAAACCGACTAAAAATGTACATTGCACTTTTCCAAAAACATTATGAGCATGAACCATGTAGATGTGATTCCAGTGTAATAGGCTCTTGCAGTCCTGGATACCTACTACTTGTAGCTTTAGGAAATGTCCAGGTACACCTGGAGAGTCACTGAGGCAGGAAGAGCAGAGATGTTCCATGGGAGGTATGCAGGTAGAGAGGTAGATATGAGAAGGGAGGTGAACTTGACCTATGATCTATCCTAACAGCTACTCTTCATTTTCCAAGAGCACCTTGACTTCTCGTGTGCTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAGACAGGGTCTCACTCTGACACAGGCAGGAGTGCAGTGGTGGCATCACTGCTCACTGCAGCCTTGACCTTCTGGGCTCACACAGTCCTCCAGCTTCAGCCTCTGGAGTAGGTGAGGTTACAGGCATGTGCCATCATGCCTGTTTTGTTTTGTTTTGTTTTTCACTTTTTGTAGAGACAGGGTCCCACTATGTTGCCCAGGCTGGACTTAAACTTCTGGGCTCAAGGGGTCCTCCTGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCCTTAGCCACCACACTCGGCCACGAACTAATCTTAAGGCTCATATTTTTCTTGCATCTAGTATTCCTTAAAGTAGGGGTTGCAAAACAGCTGACTCTAGCTCCTAAATGTGTTTAGCATTCTAAAATTTATTATTTAAACACACTTGAAGAGGGATTGCCATTTTTAATCCCACTATCTCCCTATTAATTTACACCTGGCCTACTTCCAGTTTCAAGCCTGGTCTCTTAAGTTTATAAACCCTGCTTTAAAGCCTCTCCAAGTAAAATTTAAACATGAATAAAGTGATCTTCCCAGTACAGTGGTCAAACCATATGTGATCTATCCCTGCTGAGCCAAGAATCAAACAGAAGAGTTTTGTCAAAAAGCCACATGATCTAGAGTCTCTACATACCTGGAGGTTAAGCTCATTCTATCTCTTAAAATTTGTTTGTCAAAATACTTTGGCTTTAGTGGGCCATATTTAAGGCCAGAAGCCTATTAGGAGGCAAAAGAGTCTGTAGCTATTCTCAATGGACACAGACCAACAGACCAGTAGAAAAATACACAAGAATGTTGTAATATCATCATTTCAAAAAAAAAACACAAAATTGAATATACTGGTGGAGGTAAATAAGCCAGGAGAGTGATGCCAAACAGTTTACATCCAAACTATAGAGGCAGCCCAATATTCCACTTAAAATTGACCAAGAAATGAGTTATGAGACTGCACCATAACCCAAAACACATCAAACAAAAGTATCCATTCTCCCTTAAAACTGTATTCCTACTGCTTTTTACAAAAGTGGTTATTTTGCCTTAAAGACATTATGTTGTAGTTATGGTGTTTCCAACTGACTTATGGAACATTCAGCTTACTCATAACAAAACATTAGCACTAATAGTGCTTGGTATTTTAAGGCAAAAAATAATTCTTCTCTAAGCCTATCCATCACCATTCTCACATGCCAAGCCTGCTCCATCCATGAATAATTGAGAACAGATGCATCACTGAACACATTAAAAGGCAAATAAATGTAGAAACCAAAGGTTCACACTTCAATTTTAATACTTAGCAGAACTGCATGAGTTTGCAATAATGTAAATCATGCTTGATGGATTATTTTCACATTAAAACTGGAACCAGTGTTACCGCATGTTATTTTTTCATTTACAATGTTCTGATGTAGAATTCACTTAGTGTTTAATAATTCACCATAATGCAAAGAAAACCAATTAGATTTTTTAAAAAGCAAGTTTTTTTTTCTTTTCTGAAACTTTAATTCTTAAGATAAAAAATAAAAAAATAAATTGATGCCATTTATAGTACTGTGTTCTATTTTGGCATTCACACTTGGTAAAGGGACAGAGACAAACCGAAAGAAAGTGAAAATTGATCCTAAAAGGCAATATGCTACAAACAACTGAAGGATTCTGGGATATTTATGTTAATGTATAGACAAAATTATCCAAATGTCTCTGTGGGCCTAACGTACAGCACTCAGTTATTGTGTCTTGTTATGCATCATTCTCAGTTGTTGCTATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTTTGTTACCCAGGCTAGACTGCAGTAGTGTAGTCATGGTTCACTGTAGCTTCAAACTCCTGGGCTCAACAATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACTGTAAGCACACACCACTAAACCAAGCAAATTTTTAAATTTTTTTTGTAGAGATAGGGTCTTGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCTGGCTTCAAGAGATCCTCCCAACTCAGCTTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCTGGCCTGTTGCTGCTTTTTAGTTTTTGGCATCTCTACCCGACTTTAAGCTCCAGACGGTTCAAGGACCCTGTCTGTTCTGCTTACCTTTGTATCTACTACATCTACCAGAGTGCCTGACAAAGAACAGGAACTTACTATTGTTTTATTAATGTATGAATGAGTAAAGATTGTGTGTGACCCATGACTGTGTGTGACCCAACGACTAAAATTAACTACAATGTAGATTTTGGCTCATTATAAGGTTGAACATTTTCTATCAGTCAGAACCATTTACAGTTGAGAATGGCTGCTGAGGTGTTTAAGTAGAGAAAAGGCTACAAATAAGCATGAGTGTAGCAAACAGGATTCATACTCTTGGGTCCTCTATTGGACCTTTTGATTTTGCAGATGCTTATGAGCCCTGAGGCTCTATGATTATAACACAGACCCTTCCCAAATCTGGGTCATAATTGAAATTATAATCATCAGGACTTTCTTCTGTGATAGAACTTATACACAAATTTTCAAACTAAAAGAGGAAATTATTTTCTTTAGCTTTAATTCTGAAAACCTGTTTAACTCTCACATACCTTCTATTTGGCTGTATGTTTACCTTGCATCAGTTGAATCAAAAGGCAATTTAGTATCAGCTTTACCTTAAAGATTTCCCTTTTTCTATGTACTATGATCTCTTTCAAAATGCATGGCACAAAGGTTGACTTAATAGATCCAAAATGGTATTTCTTACTAAGAAGGATTTTAACATTTTGACCATAAGGTAGGAACAAACCATGTTATAAGGAACTAATAAAGTTCACTCACCCTCACTGAATTTGATCATAGAAAATTGATCTCTACACTTCATGAAACCAGTGTCTGCTTTTAATCATAAAGTGGTTAAGTACTCACCAGCAAAGAATAATAAATCTTGAATCCAGGTTTAGCCACAAAGTAGTCATCGGACTTGAATGTGATTTTAATTTGGTTCGTTCTTGATTTTATCCTTGGAGGAACTTCCTTGTGTCCACACCATCGTCCTCTAATAATGGTACTGGTTTCGGATATATCTTCAACTTCCACAAAATCATACCTAGAATCAATTGGACATAATGAACAAGTTTTGATTAAAGTAGATTTTGAAATTCATACTTTCACTGAGAAATTAAAACTAGCATATATGATTTGTCATGACCACAATCTGAAATGAAAATTATAATGTACAGAAATGTTAAAAGGAAAACTGGTTTTTGGATTAGGTTTGCAAATTCAAGCTTCAGTAATCTATTCTGAGAAAACCTTTACATACATTTAGTCATGACTGTTCCTAAATCTTCAATAATCAAAATGGGTCACTTTCTGAGCATCTGGTTTTAGAAAGTTTTCTTGGAAAAACTAATATCTGTAATTGCTGGCATATTTTAGGAGATGTAACTCTAGTTATAGGCCCAAATATTAACTATATAAAGTTTTTAAAACAAATACCCACTCTGAATTAATTTACTGCATTCGGTGCTTTCTTGAGAAAGTAAATGACCTATATCTATATAGCTTACAAAATCAGTAATGCCATTACAGAAAATAAATGAATACACACGACTTGCTATATTCTCTTTTTGGAAACGATCTTTTGGAATGATCACGTCATAAAATATGAAACTTATCATGAAGGAAAGCATGTAACTTTAAGGAGAGATGTGTGCTAACCAATATTGGAAAAATCTGAGCTGGTTAAACCAGGGTGTGAATGAGCTTAAGACCATAAGTTCACCTCTGGCATTGGTCGGAGAAACTAGAATCCTGGGATTCAAGAAGACAGCAAAAGCTGCTTTAGTTATCCTTGTGGGCATTTGGTCTTCAAAGCACCTCCAGAGTGTTCCATCATTCTATCACATAGTAGGAGATCCTCAGTAACATAGTTTACATCTTCTAGGGAGCACTTATTCTATTTTCAGCTCCCTAAGATGTTGGAACCTTCTACTTGATAAGCTGAACTATTTCTTTCAGTTTTGGTCATCAGTATCTCGCTCCTACAATCTACTTTTCCACAGTGACTTCAGATGCTGAGGTCACAGGCAAATGATGGGCATTCAGGGTGAACAGTGGCAGAAATCTCACATCCATATTACAGTTTTCTGTTACAATCATCAGAAGGAATCATCATAAGAAACATTATTTCTGAATACATAGAGAAACCAATATGGCCTTCCTGGTCTTACTCATGCACCTCAGAGCTCTACTGGATTGGGCAAGGTAATGTAAAAAGAAAGTAAAAAATAATGATATTGTGACTAAATTTCTCTAACAGTGATTTACAAGGCCCTTATGTCCGTTGCCTCAGTTTCCTTATGGATAAAATAAGAAGGCTTATATAATTTTACCAGCTCCATATCTCTTGGGTGCTGTGTAAATTAATCACTTAATGTTTATATGGTGCTTGGAAGGTAAAAAGCACTAACAAAGTATCATTATGCAAGCAACAAAATATTACAATGTAAACATCAAGGAGGCTTTGGAACAGATGGTAGGAAATCAATTCCATTTCATTTTGTATACAATACATGTAAATCATATTTACTGCACAAAGCATGACTATAATTGAAACTTTTAATAACACCATAGGTCACTTTTGTTTAAAGAACACATCATTGTAACTTTAACTCTGAACCTGAAGTCAAGAGAGGGCTGTTTTATCTCTTAGGGAGGGTTCTGAGACAAGTCTCTGGTCTGTCTCTTTCCCGTCTTTCTCTCCTCTTTTCTACCTGCTATACTTCTACTTCCTTCCATAAATTTTGAGGAGCAACTAGATTTGATTAATGGTTCAGAAAGGAAACCATCCTCACTGTTCCTCCCTTAATTTCAAGGCCAGGATGTCAAAAGGACTCACTGCTAGGATCAAAACTCCAGCTCAGTAGTGGAGACCTGGCTTCCCTTCTGTGATATTGTAATAATAAGAAATATATATATTTGGTCTTTGTTCCTGGCACAGGCTCCTAAAACTCTTGGAATTTCTGAGTGCTGGGGTTAGAGGAGCATCTTTTTTTATTCATAATAAGCCCCCTTCCAACCATACCAGAATTTATCCTAATGAATAAATTCATTGCCTTTTGGAAGTACCTGTTGGGAGGCCCCGAGGTAGCTTCAGAATGGAGGCTCATCACCAGAAAGAACAAGACATGATTAGAGAGTTGTAAATTTTGGCTCCACCCCTAGACCTCTGGGGAGGGAGAGGGCCTGGAGATGGAGTTCAATCACCAATGATTTAATTAATCGTGCCTTCACAATGAGACTTCCATCAATACTCTTCTAGGCTGGTGAATACATCCAGGTGTTTCGAAGGTTGCAAACCCAGAGAAAGCACTCTTTCCATACATCTTGCCTATGTATCTCTTTCACTTGGCTGTTCCTCAGTTGCATCCTCTATAATAAACTGGTAATAGCAAGGAAACTGTTTCCTTGAGTTTTGTGAGCTGTTCTGGCAAATTATTCAACCCAAGAAGAGGGTTATGGAACCCCTATTTACAGCTGGTTGATCAGAAGTAGGAGAGGCTTGGAAGCTGCAACTGACATAGAACATGGAGGCAGTCTTGTGGGACTGAGCCTTAACTTGTGGGATCTGACACTGATTCCAGGTAGTGTCTGAATTGAATTGAATAGGACAAAACAAGCTGGTGTTGGAGGATTAACTGCTGTGGGAAAAAACCCTCACCTCACAGATTTGGTATTGGAAGTGTTCTATGGGCAGAAACAGATCATGGTACCCTCCACATCATCACCTTTAATAATCTTTTAATAGCGTCTTTTTCCCATGATTTTTTAGGCACAGAATATTAGTTCTTTTTTTTTGAGATGGAAAAGACGCAAGATCAGCATTAGTTTATTCTCTTTGTAAATATTAACTGGCTCTTCCTTAATGTATTCATCTCTGCTTTCTGGCATACATTACCCTCTATGGTCCTAGAAAGTAATAGTCAGTGCTGTTATTCTCAGCAAAATAGCAACATAATAAAAGCTGTCAGCATAATAAACATGCAACAGAGGACAACCAAATTTGAGGCCCCTCTTTTTATTATTCAAAGGAAAATAAACCCGCTGAAAGGATTTAGCAGTTCAGTAGTTCATTGGCAATGCAGAACAAGTGTGTGCAGTAAAGTACAAAAAAGAAAAAAAAAATCTTCCTCAAGTCTTATACATGCTAATTAAGCGAGTAAAATGCTGTGAGCGGACATTCAAAGAACAACAGTCCAGGCTTTCTTTGATAAATATGCTAAGAAGAGAGAAGATTATCAGACACAGCTTTCATCTTCTACTTGTGACCCAGAAACTGCAAGAAACAGACCCTTCTGAGGAGCACAGGGAATCTGGGGTGAGCTTTCTCTTCCTTCCCACCCGTATCTGAGGCCTTAACACTATGAATTCGGGGTCAGGCCCTGATAGCTTCCCCAACCATCATCTCCCAGTGCTGGCGTAATTCATTATGGGTAGGAAGGCCTGGGTCAGCGGGAGCCGGGCAGGGGTTTATGCTCCCTAAGCCCATGGCAGGCTTTGACCACACATGATGCAGCTGCCCGTAACCTGGGATGCTGGATACCTGTGCATAAATGCTGCTCTGTGCCTGGAAAAGGAGAGGACCTCCAGATTTCACCCTTCTTTGGAGGTCACACAGTCCTGACAGTTGCACAAGTGAGTTTCTGTGAGTACTGCCAGGTTATTCGGCTCTCTGCCTCAGCAGTCTACGCTATCTTGTCTGTTAGGGTCTTTAGGCTTTTTGAAAAAGAAGCGACACATGTTGGGTCCATTTAAAAGGCTCAAAAGGAATGTTTGATACGATGCTTTAAATTCATCTTTTTCTTTTTTCACCTTGAAATAGTACCGTAAAAATTTTTTTCCCAACTTACCTACAGATATCATTTTCTGCTTCCTCTAATCCAAACTGATTGTCAAACACTAGCTGTATCCGTGTATTCTCCTGAGAGTGAAGCCGCCATGTCAGGAGCAGGTTCCTGGGGTAGCTGTTCGGGAATCTAGGACTCTGCACGTAGCCGTTTCCTTTCACCTGGATGGTCTCATCTCTTCGGTACAAGTCTGTGAGGTGATTGCTCTCTGTTAGTAGTCACAACTTGTAGAAATTAGTATGTTGCTCCAATTACAGGAAAGTCAAAAAAAGAGAACAGTTTACAACACATCATACTTCAAAACACTTCTTTATTTTGCCTAAAAACATTAAGTCTAAATGCAAATAAACAAACTTTTTTTCTCACACTGATGGCGTAGCAATCTATGTCCAGTGACTAGCATCTGAGATACTCAATAAAGACTGCTGAGTGAATGAATGAGTGAAAAACAAAAGAAAAGACTCTAGTGATGTTTAATGACCCTTTATTTTGTATTCAATTGATATTCTCCGATGGGTAACCTTCTGCCTTCTATTAAACAAACAACACATCTTTCTTCTAGTATCCCCCACCTCCCTAAATTCTTCACAAATCCACCCTTGATGTCTGTCTAACTTTGTACTTTGGGAGTTCTCTTAATATCATTCTTGACAAGCAAAGACTAACAACAATCTCAGAACTTCAGTTCATTTAGTATGGATTAGAATCAGCAAATAATTTCATCCATCCTTCCACCACGAAAAATCATAATTTTGTGTCTTGGGTTTTCTATGAGTTAAAATAGGTCCAATTCTTACTGTATTTTCTCTATGCTGTTAGCCAGATAAAAAGAATTTATCTGGTTTTTGTACTGGGTTCTTGGAAGAGAGTTTCCAAACCCTTGGAATTTCTCACGTCATAGAAATATTTTTGTTATTCATGATATGGCCCCCGGGACCACGTCTGAATTTATGCTAATGAAGTGACTCACTGTGGGCCCACAGATAACTTTAGGATGGGGGTCGGCCATGCCAGATAGACCAACCATGTGATTAAGGGTTAGGGTTTGGAGCCATTATGACATTCAACCTGATCTCTCTCCCAACCTCTGGGGATGAAAGACGGATTGAAGATTGAGTCCACTCATGTTGATAATGATTCCATCAATCATGACTGCATAATGAAACTCCAGTGAAAACTCTAGACACCAAGACTTGGGTGAGTTTCCCAGGTGGGGATACACATTGATGTACTAGCAGGCTGATGTGTCCCGAGGACACAGAAGCTTCATGCTTGAGACCCTCTCAGACCTTACCCTATGTGCTTCTTTATTTAGCTGGTCCTAATTTATATCCTTTATAGGAGGACTTTAATTTTAAGTACAGTGCTTTTCTGATTTCTGTGAGTTGTTCTAGCAAATATCAAACCTGGGGGTTTATAGGGACTCCCAAATTTATAACCAATTGGTCAGAAGTGCAAGTGAGCTGGGGTCCCCCAAACTTGCAGCTGATGTCTGAAGTGAGTACCATATTGTGGTGCTTGTAATTTTAACCTGTGGAATTTGGCCTAACTCCCGGTAGTTTTCATCAGAATTGCATCATACAGTGGATCCCCTTTTCATCTCTCTCAATATTCAGAGTTCATTGCATTTTGGATTTTGGCTTTTTAGGCCCCACCATAAACAGACCTCCAGCCACAGTCTATTTATGTTATCCTGCAGAGAGTTTACTTTGAGGACTATAATTCAGTGAGCCTGGTCAGGGAAGCTATGCTTGCTGGTGGAAACCACTGTAAGGTAGGGTTTCTGAGGGTGGCTGTTAGAGCTTCCAAAAATAAGACAAAGAGGATAAGAATTGGCATGTGAAGTACAAAAGTCTCTTTTGCAAGTGATTTTGCATATGGGAATTTAAACTTTTTTTGGACTCATTTAATGTTAATGTGTTGCAGCTTGTTCAGCTAGACTTTGTGTGGGAGACAGAGTCGTAGGAAAAGCAACGGGTAGTTGAGGGATGTCCCCACTCCCTGCCTCCAGATGAAGGCAGTGGCCTGCAGTCATGGCAGCACTTCCAACAAGGACAGCAAGCAGACAACTTCCTAGGAGACGAAAATCATTTCTGCTCGTTGAGTCTTTTCCCTTCCCTTGATCTTATGCTTAAAGATCAGCTGCGAAAACTGGTGTCTGCTCATTTTGTCATAAGGGGCTTTTAGGCAATGGGTCTTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCATCTCTAATTGTAATCCTCACATGTCAGGGGAGGGACCTGGTGGGAGATGACTAGATCATGGGGTGGTTCCCCCATGCTGTTCTCGTGATAATGAGTGAGTTCTCATGAAATCTGATGGCTTAAAAGTGTGGCGGTCCCCTGCAACCCCTGCCTCCTGCTGCCATGTAAAAGGTGCCTTGCTTCCCCTTCACCTTCTGCTATGATTGTAAGTTTCCCAAGGGCTCCTATGCCATATGGAACTGTGAGCCAATTAAACCTCTGTTCTTAATAAATTACCCAGTCTCAGGTAGTTCTTTATAACAGTGTGAAAAATGACTAACACAGGTCTGAACACTGTTTTCTAGGTTGACTGATTTGAGCTATTAGTCAGTCAACAATTATGTATTAAGCATAGATTAACCATATTGTATTATAGTATTTTCAAGACTTCTATCACTTGAGTATTACCCTTACAATTTTTGCCACATTTTTGTGCCTCTAGTGCTATTAATTATTTATTAGTTTCTCTCTAAATTAATATTTTAATCAAAAGCAAATTTATTCTAAAATAAAACTTTATGCCAATAATGTAAATGGCAAGCAGCCATCATTTGCCATGAATAGAAGGTAACCATGAGTCTAAATATATTACTATTAAATTTTAAAATATCTATCTCAGGTATTCAGATTCCTCATTTGTATAAGTGAATTGAGCATCACATTTTCTCTTTGGTCTTTTTCATGGGTATTATATATTCTTTCTTTACAGTTTCAGATGCTATGTTAGATCTGGATAGAATTTAAAAATGTTTAAAGAATGGTTCTTGTCTTCGTACACTTGGAAAAAAAAGTTGATGCATACTGCACAAATGTAAACAGGCAAAAGGGAATATTAAGTGCTGAGTGTAAATGCTGTGGTTGCTCAAAGGCCAGGTGAGCAGCAAGGGCTAATGTGGAGAATGTGTACATATGATCCTTGCAAGAGGCCTGCCCAGAACAGAGCCCAAGTGAGACATAAGAGGCTAGAAGCTTTAAAGGAACTATGGAAATATTTGAAAGCCAGGCAGAAATATCTCCACTTGATATGGGTACAAACAGATCAGCCCTGGTGTGGGTGAATAGTTTGTTAAAAGGAAGATTAGCCTGTTGGTGATACAGTAGACAAACTGGAGGGAAAATGCCTGGAGCATCAAGGTCTCCTAGGAACTAGAGGTGAGGGTAACAAGGTCCTATTCTGGAAGGGCAGGTGGCAGTGATGCCACTTTGGGGGAAAAATAGAAAGGAATGTAAAAGTATTGGTTAGAGGTAGCAGCAGCATGCTAAGCCTAGAGCCTGGGCTCAGTGTGGTATTATTGATACTCAAGGATGCTGCCAGGGGAAACATTTTTAGAGGAATGTAAGTTTGGTTTTGAAGTGGTGATGAGTAATTCAAGTGGAAACTTAGCAGGCTTTGGGGTTACAGAGCTAGCTGAGAGAACAGATTAGACACAAGGCCTCAGCTTAGAGAGGGGAGAGGAGGCCTTGGGAATCAGTGATCCCTCTCAAGAAGTGTCCTGAGAAGGGAAGGTGAAGCTTGGTGCTGGCAGACATGCCCTGGGAGTGGCAGATGACAGAAGGAGTGCCCACCTGGAGCAATGGCTGGGAAGGAAGCTGTGTGTAAGTCAGGCTGCCCAGAAAAGGGACAATTTCAAGGACAGAGTGGTCAATAAAGTCACATGCAAAACAAGACCAGGGGACAATAGACGGAGAAAAGACCACAGAACTTGGTAATAACAAAGTCAATGATATCCTTTCAAAGTACACTTTTAGAACTTTTCTAAGTATAAAAGGGGACTCTTTTTTCTAAAACATCATTAAAGTCTACACTGTCTTAAAGGTATTAACTCTGGTTATAAATGAATGCCAATTACATTTTTATGAACCTGTAGAAGGGGTGGGGAGAGGGGCTTTCCTTCTTATGTAGTTTGATTAAGACAGTACAGTCAGCCCTCCATATCCATGGGTTCCACATTCATGGATTCATCAACATCAAATTGAAAATATTTATTAAAAACAGGATGCTTGTGTCTGTGCTGAACACATACAGACTTTTTTTCTTGGCATTATTCCCTAAACAATACAGTATAACAACTGTTTACATAGCATTTATACTGTTTCTAGAGGTGATTTCAAAATATAGAAGAGGATGTGCATAGATTATATGCAAACAGTACATCATTTTATATAATGGGTTTTGGTATCCTTGTGGTATGTGGAGCGGGAAGGGGTTCTGGAATCAATACCTCATTAATACTGAGGGATGACTATATTCGTTTTCAATTTCACAAATTTGTCAGAGACCTATGCTGCAGTATTTTGAACTACAGGGGAAAAATAACAATATTTCAGATTTATTTTTCCTTAAAAAATTCTGCCAAAAAATACACCTGAACAAACAAAATATGCACAACAGCAAACACTGCTAATTATGCTTATTTTGTGCCTGGCATTGTTCTAAGCAATTTGCATACTTCATTTGTAGGGTCTAATCACTTTATACAGATGATCTCTTGTGTGTGTATGCATGTCCATATATATTTATAACGACTTTGAGATAGGTATTATTACCACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTGTCTCATTATGTCACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCACACTGCAACCTCCGCCTCCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGCTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAAGTCATTACCACCATTTGACAGATGAAAATTCTGGGGAAGAGAGAGGTCTAGTATCTTGCTCAAGGTCACAGAGCTAGTGAAAGGTAGAGTTAGAATACAAACCAGGCTATCTGGTTCCAGAGTAGATGCTTCTAACCACTGTACTATAGAAAGTGTTCTTCCTTCTTAGTCTGAAATCTGCTTGAGGCAATTTTAGATTCTTTGCTACGGGTAATTGTGTAATCCACTTCTAAGTCACACTGTTTACATATAATTTAACTTAATGCCAACTCAGGGCTATTCTTAGCAGAAGAGTTGTAATGAATTATAGATACAAAGAACAACCTCTCAGGTTAAACCCGAGATAAGTACCAAAGTATTATACACAAAGTCACATTCCTAAACAAAGGTATTTACTTTGGTGTTCCAATAACAGCTAACATTTCTGGAGCAACTATTGCCAGGTACTCCAATAAGTGGTTTAAAGCCATTACTTCATTTAATCCTCACAACAACCCCATGCCATTGGTATTATCCCCACTTTACAAAGGAAGTTCTGAAAATTTAAGAAACTTGTGACCTCAGGCACAAAGCTTGTGGTGGAATCAAGATATGACCTTAGGCAGTCTACTACTTTCAGAGCACACATGCTTAACCAGAGCACTGTACTAGCTGTTAAACTACAAAAATAGGAAAACAATCACTTTTCACAGAGAGGAAATAATTTTTATGTATGTTTATATAACAATGACATAGTTTTATTTTGCATTTTAACACAGAAAGATGTTCACATCCTCATAAACTCTGAGGTACGCATTTGACTTAAAAAAGGCAATTAAAATTTTTAAAAAGCCAAAATGTTATATAATTGTCTATTTTATTCCCAATTGTTCAGCAAACTCAGCTCACCCAACCAAGTACCCCAGGAGCTCATGAAAGTCACTGTAGGCACTATTACTTATCCCTGAAATCCATCTAGACCAATGGTTTGCTATATGTGGTCCCCAGAGCATCATTATTAACATCACCTAGGAGTCTGTTAGGAATGTAAATTCTCAGGTCCTACTCCAGACCTACAGAAGCAGAAATGCTGGGCACGGAACCAAGCACTATACATATTAATAAGTCTCCAAGGTGATTCTGATGCACCCTAAGGTTTGAGAACCACTGACCATATCATGATTTCTATTTTGCTTCTTATTCCTACTTTCCTGCCACCTCTTTGCTTTGACTCTGTAACTCAAGTCTGGTTTTTCATTTTGTGTCCTTGACTGACAACCTGTTGATATGGACAGGAGTCAGAGAAATACTGGGTAGAAGAGGGTAGTTCCCCGGCAAAGGCCCCACTCTCAAGCCTGGAAATCCACAGCCCTAAATGGGAACAGGCATTCCTGTTTTTGTTCCCAAAAGTTGCCTTTGGGTCTGCCATGCCACCCTATCCTGTACCCATAATAACTCCAGACCCCAGGCTCCAGAAGCAGATGAGGAGGAGACGAACAGAAGTGCAGAAGAATGGACGAACAGCGTGGCAGAGAGAAGAGAAGGAGCATCTGAATATCAAGAGGAGTTCAGCTGGGGGCGGCTAGAGAGGAGACCTGCTGCTGGACAGCCAAACTCCAGGGAAGAGTATATTCCCACTCCATCCCCCTTCCAGCTCCCTATCCATCCTGGTGAGAGCCGCCTCCACCATTCAATAAAACCCCCACATTCATCCTTCAAGTCCATGTGGAACCTGATTCTTCCTGGATGCCAGACAAGGACCTGGGTACCAAGAGGGCATGGAGCTGGTTAATACTTAAGCTGTCTGTGGACAGCAAGGCTAAAAGTGCACACTGTATCACGTGCCCATTTGGGCTTTGGGAGTTGCAGATACCCACTCCTGGATGTTGCTATGGGAGTGGACCCCAGGGGTCTCATCTGCGTGCTCCCCCTCCTGTAAGGGGTTTGAGTGTGCATGACAGCTAAACAAGAGGAGCCACATGCCTGTCGCAAGTCCTATGCGGGGGATCAGGGAAGTATCCCGTTTTACTGTCTTGGGCTCACTTTTCTATTTCCGACCTTGGAACCTCCTCTAGGATGTCATTTCCAGTATACAATGACTAGAGCAAGAGGCTACACACCTTGGTGTCTTTGACTGCCTTTGACAGTCTCACCCCTTATCCAGCTTTCCCCATTCATGAAGAAGTCACCCCTGGCCCCAATAAATGTATGTGATAATCCATCATCATATATAATAATGCTTAAGGAGAAATGAAACTATGAATAATGGTAATGTTTTTCTTCTCATATCATAATATTATACATGACAACATAAGATGCAAAAGGAAAATAGTTGTTGAAGTAAAAATTAAAATATTTGATCAAACAGTGATATAGTTGCAGGCTGTGCCATCTCACACAAACTCAGTGGAACACTACAGACATGCCCTTTTTCTCTTGTCCCCATAAGACAGCCAGGAACCAATAGCATGACTGATAGTGACAAACCCTTTTCAGCTACAAGCCAAAAGCAATCAAGAATCAGGAAATTCCAAACTTACAAAAAGATCTTTTTAACAAAATATCATTAATAAAAGTGCTGTTTCATGATCCTATAATATGTCATAGCAGTAATGTTTGCCCAGAATGTAGTTGAATGATATGTAAACTATATAGTCCCACTTCTGTTGCTAAACAACCACAGTAACCTAAATTTGTGTGGGATGCAGTATAGTTTATAAACACCCATTTTGCAAGTCCATCATAGAAATAAGTTGACAAAATAGGAAGCAAATATTATACTTTCATTCTGTTTTTTATAATAATTGTTTTGTTGTTACTTTAACAGGTAACAAAAGCAACAGAGAGAAGTGATTTGTTGCAAGCCCAAAGAATGGAAGCTTTCCATATTTAAGAGCTGAGTCTTAAAGTCAGCTCTACCTCTTTCAAGTCCTAGTAACTCTTCCCCTATATTACAAACAGCAGCATTATTCACACCATGTCATCCCTCTGGCTTCTGTTTCTCAACCTGATACATTAGGGGGCTGAATAATGTGGCAGATTCCTTTCAGGTACAAAATGACATGACACCTCAATAGTTTTCTTCCAAGGGGACAGAAATACCAGTGGTTGGACTATGGGTAATAGATAAGATTAAACAATGCTCGGAAAATAAAATCTCAAATCTCAAATCTTCAATGGGTAAGTGGTCAAACACTTTTGCTAACTATATGTAACATTTTATTATATTAGCATTAGATATAATAGATATTATATATAGTTGTATGCCATCATCTGAAATAAGAATACAAGTTGTTCAAACACATATTGTTTGGAAAAATCTCTATTTCTTTTCAACTAGAAAAGTGTCCCAGGCACATAATTATCCACTTAGCACACTAATTTGTGTTGAAAACATTACGAAGGAATTAAAATAAATGTTTTAATGTAGAAACAATGTATTCTATCTTTTGCTCCCTTTAAAACTAAGTAAAGACTTCTTTCTGAGTCTATCTAGGTAGAAGAGATAAAAACTGAAGATACTCAAAAGTGCTGTATAATTTCTTTAAAGTTTCAAAGGAAAGTAAAAAATAAATCATATTGGAGAAAATTAAACTCCTGAGGCAAAGGACTATGTCTTGTTAATCAATGTAACCCCAGTATATTGCCAGTCTGGGCATATGAGGCACTCAAAATATATTTTTAAAAAACATACATGGATGAATGGTTAACTACAAATAGTACATATTATATATGCATATTATAATAATAATGCAAATTATTAATACAAACCTGAAAGACATTTAAAGATAACAAATAAAAGGCAATTTTATCAGAAATAAAATTGTAAAATGCCCCAAATATTTCACTTCTAAGAAATTCATATTAATGTAGCCAAGGGCCCTATATTTGTGAGAACACATTTAGCATGAACATTAAGGGATTATTTTTGGAAGAGATGCATTTAAATGATCCTGCTTAACATCTGGTTTATATATTAATTCTGAAATGACTACTTACTCTGTCCTATTTCCATTTCACAACCTACCAGTAGCACCAGAGCCAGGCCCTACCATACTTTAAGAAGTTGTGACTCTGAAAGAAAAGAAGAAAAATGCTGTAACAAAAGTAAAATAGTTTGCTGTTATATATGGGGGCTGCTCTTGGATTTATTAAGCAATATACAAAATCGGTGACTGACTAGATTCCATAGGTTCTCATCCTATGCAACCATTTAATTTAGAGTGGCAAGCTCAGCAAAATGAATCAAAATCAGTCCTGTGTCTTGCAAATGCATTATTATTATTATTATTATTATTATCATTACTACTCAATGACCTCAAGTAATTTCTGCACTCTTCCTCAAAGAATCAAAACACAGTAAAGTGTCCTAAGATGCAAAACAGTACCTTAATTGATGAGACAATGTGCGGTGTTTTGTTGAAGCAGCAAAAAAGAAATGAAAGAGATGGAAGATAGAAAAGAGACTAGGGCAGGAAGTCCTAACTTAAAAATGAATAGGTCAATTTGTACAACAGACCCTAAAATATGCAACTTGGATTAAATTGAATTTAATTAGATAATTTTCCATAAATTATCTCCTAACTTAAAAAGTACAGGGTTGGAGTCTCACCATGTGAACTGATAAAGGTGAAAATTAGACTCTAACAATGTTAGTTTAAAAATCAGCACGGAAGCTTTTTCAGCTTTTTCCCCCTAGTGTTTGCTAACGCACTGAAGCTTGCAATCAATGAGCTGAAGTCCTCCTGGGACTATTAATAGGACGGTCTTCACTAAGGAATTTTTGGTTAACACATGTTCCTAGTGAGAATTAGTCTTCCAATAGCTCACATTAGCTTTCCAAAAACAACATCCACCTGTGCTCAGTCTATGGCCTGCCATTAAGAAACTCAAGAGCAAAGCTGATTAAACATCAGACATTTATTTAGAATTCTCCAGCAGAGATTTTTCTAAGATCTCAGTAGTAATACAAAACTTTTCTGTTTATAAAGATTTGGGGAAGGAGATGGTTGTTTGCCAGTTACATATCTTTTTTTTTTTTTAAACATTAGAGCTCTTTTTGGCACAAACAAAGATGTTAATGTTACATAAACAGCCATGCTCACAGTAACAATTTGGAGACAATGTTTTTTTGTAATCACTTGATTATTCCCTGAACTCAAAATTATTCTTCTTCAAGAATCTGAGTCCACCAAAAAAGAATAAATGAAAAAGTACCATAAAGTCCTCTTGAATACTTGCCAGAAACACTCACAGGAGTGTAATAATGCCCAAAGTATTATATTCATAATTATTATTCTTCACCTCACTAGAACTTTTAATGTACAAAAATTTGTTTTGTTATTGTACATTAGTGAGCGATCATATTCTTTCCTTCAAAATAGCTTGTATTTTATAGGTAATTACAGAAATGATGGTAAAATATTAAAATGGAAATAATTTAACTTTCTGAAATGACTTTTGGTCTAATTTTTAGAATATTTGAATCTGGATAAAGATTGACCCAAAATAACCATGGTAGATTTTATCACATTCATATTAATTAATTCTCTGATAATTCTCTTTTCTTCTATGGTAGTCTGTTTGTGTTGCGATATTGCCACTTACATGTAAAGAATGTGAAAAAAATGAAATAATAAAATTCAGAACTGTGAGGGTGAAGGGAAATGTTGAATGGCATGGTAGAAAGTATTACAGTATCTAAGGCTCCTGAATAGAGAGATCCTTTCCATAATACTAACTTAACACCCAGAAAATAATAAGACAACCACAATGACAAAAATATCTGCTTTAACCACTGCCAACATAGCTCAGAAACACAGAAAGATAAGAGGGAAAATAGAAAAGTCATACCCAGGAGTAACAAGATTTAGCATTTTTTCTAGAGAACATTTGTTATAGAAAAACCAATATTTTTATAAATATTGTCAATAATGAGGATTTTCTCAGAGTAACTTTAAGAAGTAACCAACCCAATAAAGTTGATGTGGAATTGAACAGTGTGGATCAGAGGCAATGATCGTAAAATATCCTAATGCTTAAAGTGCTAGTCTGTACAGACAAAGATGAAAGCATTTTCTTAGTCACTTCTGACTAAAGGGCTCACAAATTCCCAGGAGAAAGCTGAGAGTTAGTTTGGTTTATCACTTGTGATGTATATAAACTTATGACTATATTTAATATGTACATTAGTTACATATCACATAATGAACACATTATGTATATTTATAATTATACTTAAAATAAATTTTTATTAAATTGTATGGCTTCAGTGCTATTTACGGATTAAATCACTTTTCAATACCAAAGTCATTGCATTCCAAAGTAATTTCTTCGCATGTTAACATTTTAAAATAGGGAACTATCTTATGATTACTGTTAAATGTAACTGTCCAGCTGTCAGGAAGAGGAGCAAGTTGGGACAGAGTTTTCATAGATTTTGTAAGCATAAATTTAGTCATGAGTAGGAGATAACTGTTCATCTGATTTCAACTTCAAATATTATCTTTGGTAGCATAATATATGGATGAATTATAATGTATTTGGATAGCTGTCACTTGTAAAACATTTATAAAGGTTGTACTATGATGCAGTATCAAAATTTTAAAAGTGTTTGTGAAGATAAATGAGTATGGAAAAAGAAATGAAAATGTAAATATACTAAAAAAATGAAGAAATAATATCACATCCATATTCTCTGGTAAAAAAAAATATTCAAGTGCTTTATGGGACCAAAGCTGGGAAGATGTATTAAAGTAAAAATTGTATTTTGATTTGTCACTGATGCTCAAGGAAATAAATTTCCTGCCTCTCTCAGAAAATGCAATTAAAAGCAGTAGAAATTATGAAATGTCTCAGAATAGGCCAAATAATTAGTAAACCTATGAAAGATTAATGCAAATGATTCCCGCATTATGATGATGATAAATAGCTACCTATCAAAAGTTGGAGGCTTTCAAGAGAATTACTTAACATCTAGTGATACCTAACCCACATAAGCAGAAAATGATACAATTAATGAAAATTCAGATGAATTCCTAGCATTCTTTGATATTTCTCGGAATTATCTGGAGTCCTAAAAGTGCACTGTTGATCAAATCATAATAACACACACTGGTTCTGAAAAAGGTCATGTTACTTTGAAGCTATGTATGAATACTGAATTACCGAAGTGATTTAAAAGACTTCTGTGATTCAATGTAAAAAAGGCTTGGATTTGGACTTTGAGATAATAAAAGACATTATACTTTTCTGGATAAATGCATGCTATTATCATTTTATTAAAAAGAATACTGTGTGCTTTTAATGCAGACCTTTTATTCTCCCCCAAAGCTATTACTAAGTCAATGCTAGGTCATACAACGGATGGTGTTTTAGAATGAAACAAGCTTTTTGTTTTCTTGTTAAAGCTCATGCTAACAAATCTCTTCAAATATCTTTGTGTAGACTACTGTGTCTCCTCCATGGACTCTTCCCTAACGTGACTCCAGTGGAGTAGCATTAGTTAGGAAAGGACAGATTATACTAGCCTAAATCTTAGTGGTTTTAAAGTTTATTTTTTGTTCATGCTACATGTCCACTTTGGGTTGGTGGGGCTCCACTTCATGTTTTCTCACTCCGAAATCTGGGAAAATGAACTTTTAGTACTGTAATATTTAGAGCTATGCAGGGGAAACCAGGAGATGAAGAATGGCCTAAGAAAACCACATGGCCATGTTATGGACAAGAGGCAGGGAAATACTGGGTAGAAGAGCACGTTTCCCCTGCAAAGGCCTCACCCTCAAGCCTGGGCCTGCGGCCCTAAATGAGAACTTCACAACCCTGTTTTCATACCCAAATGTTGCTCTTTCTGAAACCACCCTGGCCCACTATGTCCCCCACCCTGTACCCATAAAAACCCCAAACTCCGCTGGCAGAGGAGCAGAGCAGTATGGCAGAGAAGGAGAAAAAACAAGTGTCTGAATGTTGAAGTGTCTGAATGTGGAGAGGAGCTTGGCCTGGGACAGCAGAACTCCAGGGGAAGATTATCTTCCCAATCCATCTCTTTTCCTGCTCCCCATCCTGCTGAGAGCCAGCTCCATCACTCAATAAAACCTCCACATTCACCATCCTTCAAGTCTGTGTGACCTGATTCCTCCTGCATACCAGACAAGAACCCAGGTACCAAGAGGGCAGGGTATAAAAGGCTGTCATCCTGACTCTCCACTGAGCTGGTTAACGCTTAGCCATCCGTGGATGGCAACTACTAAAAGAGCATTAATTGTAACACACCCCTAGATGCTACTGTGTGGCTGGAGCCCAAAAGCACTCAACCCAGCCTGGCACCCGCTCGCCTGCATGCTCCCTGTCCTGCAAGGGGTTTGAGTGCAGCAGCCAGTCAGTGAGCCATACAGGACTGTTGCAAGTCCTGTGAAGGGGTCCAGGGAACTCTTCTGTCTTAGCCAGACCTAACTTCCAATAGAGTGGATGCCTGGAAAAGTAAAGAAGAACTGCAAACTGATGAACAGTTTAGTAGTGACTACTTCAATGGCATACTTACTTCCCATATATAAAAGCATCAGGCTTGACTTGTCTTTTTGTTTTTCAATAGGTAGCATGATCTAACCATACACTGAATAACATCTCATTGTTATTATTATAAATCATTGCAATTGTGGCAAAATAGATGGTCAGGATAGAAATGTATCTCCAAGCAGAAGATTCATAAAGATTTGATGACTACAGAGGAAGAAAAATGGTGCTGAGCTACCAAAAAATACATTTGAGTAAGTGGTCTTGATCTTTGTCAGAATTCATTATCTTTCTAGAGATAGCAACTAGGTTTTATTCAGTAGATAAATTAGGATAGTGACAGTAACCTCCAGTATTCATCTTAAGAAGGATTCTGAGCCTGTGTCTATGTTAAATAGAAAAAATGGAAATGACAAATTAACAATGTCTCGCATGGGCCCAGAAACATAGAGACAGAAACATTTTTGCCATCCCTTTATATAGCTACTGAATAATATTCTATGTCTGTTTCTCTACATTTTTGCTTCCTTCATGCCTATTCCACAAGACCTGTACTGGTCTGCTTATGCCTGCAATCCCAGCATATTTGGGAGGCCAAGGCAGGAGGATAGCTTAGGCTAGGAGTTCGAGACTAGCCTGGGCAACACAGAGAGACCCCATGTCTACTAAAAATAAAAAGATTAGCTGGGTGTGGTGGCATGCACCTGCAGTACCAGTGACTTGGGGAGCTGAGGCTGGAGGACTGCTTAAGCTCAGGAGTTTGAGGCTATAGTGAGCTATGACTACACCACTGCACTCTAGCTTGAATGACAGAGTGAGATCCTCTCTCCAAACAGACAAACAAACAAACAAACAAAAGATAAACATGCTTTCTTGTGGGACCTCCTACGGTAATCTAGAATCTTTTTTTCAGATGAGTTAGAAGTAGCCTTTAATAAAGAATAATACATACTAGCATTTAATACATCCTGAGAAAGATGGGATTGTGTGTGCCTACATTGCTAAAAGCAACCAATTTGTGAAGCCAAATAGGCATCTTCGAGGTCTACTGTGGTTTATGCTACAAAATTGGTGAGCTTTATGGAAAAAATGACTAACAATATACTGGCATCTGTCTGGCTTCCCTGGGAGCCCATATATTAATAATAATCAAATAGTCTCTCACATGATCAGCAGAAAAGAAATTTGAAGTTATATTCTGGGACAAGACCCAAAGTAATTCCTCACTCTATCAGCATTTATTGAGATTTTACAGAGTGCCTGTTGGGAATTAGGAGCTGCATTTAGATGGTGAATAAATTCATGCTTTCATCCTAAGTATGATCCCACTAGGCAGAATGGTCAAGTTCTCAATTCCTCTGTTGCTGTTATTTTTGCAAAGGAAAAGATAGAACTTACTATTCCCGTCATTTGAAGGCTTCAAAGATATTGCTGGTGAATCGCTTCCTCCAAACTCTTAATGTGCTACTTAAAAAAATTAATTCATAAACCAAGAATACTTGCTTTTAAATCTTACTAGATTTTATTCTGAAGCACACTCAATAAAAATCTAAGTTTCAAATTTAGCTAGAGTTAGTAATCTTCTGTGAGATTGCTACAAATGACATGCTATGAGAAGCCAGCAATTGAAACAAGATTCTCTTTTCTTCTTAGATTGACAGGGTACTGCTTGAAAAAGAAATGCAGATTTTGTTTATTCTCAAGGGGTCTCAGGTGTGAACGAAGCTACATTTTAAATTAATCTGAGAAAAAAGACCAATTTTAGAGGCAAGAAGAACTACAGGTCATCTTTCTTGGTATTTCAGAAGAAAAAAGAAAAATAAACACAGCATTACCTTTGCATCTGGAATACAAAAAATGATTTTAAAGCAAATGTGCACATAGGAAAATCATCTATTTAACTTTATCCTTAAAGAAAACAGTACATTCAAAAGCATGATTTTCTAGCCTACATATGTCTTTACATTAGATCTAGTAACTATGTACTGAATGAAATGGGTTTTAATAAGTTGAAAACTGAATAAATTAAAAAGCACTAGAGTATTAGTATGCACTGAACTCCAGAATGGCATATTTCACAAAGTTACAATATCATGTGAGAGTTTTGCATGGTTGTCCAATTTAGCCATTCACCCATTTTCCATTTCTATTTTCATTTTTGGTTAAAAACAGAGACACAGACAGTCCCTTCATGCATATAAAGAGCTCACGTGGAAACAACATTGAATGACAGCTGGTTTTTACTATCAATTTCATGTTTGTGCTACAGAGTCCAAAACCCCAACAGAAACACATTCTCACAATTAATAAATTTTAAATAGTAGTAAGCTCTCAAAATCTACTTGTTGAATGAATCCCTCTGAAATTTTACACATAGGCAGAGGTCTTTTTATTTGCACAGTATCACATGCTTAATGAATCTGCTGGTCTTATAAAAGCTAATTTTGGCTGCAAATTTTACAGATGACCAAACTAAAATTGACTGAGACAATAAGGAAAAGGTGTCATCTCTCACAGGAAGTCAGGAGGTAGATACTTTCAGGTTTGATTAATTCATGGCTTTGCATGGTAGTCATGGGTTTTTCCACCTTTCTGTTCTGCCATCCTGAATGTGTTGGCTGCTCTCCTTAAAATGTGACAGCAGTTTCAGCTATCTCTCCCTCGCAGGGTTGGATTCAAGGCCAAAGAAAAGGCCTTTCTTGACATATTTCTAAATATCTTTTTAAGAAAGCGGAGCCTTTCTCAAATCCCCAAGCAAGCTTTCCCTCTGTCTCACTGGGCAGAATCTGGGCATATTCTCAGGCCTATGCCAGTCATGGCAAGGGGAACAGACTTACCAAGACTGGCTTGGACCCACACAAAGTTCTCCCCGAGCTGAGGCCCATGTCCACCCATCAGGGTAAAAGTAAGAAATAAGGGGCAAGAGAGAAGTTGGAGTGGCAAACAATGAGCAGTAATTAGCAACTACTGGGTATGTCTGTGTTTATATCAAGCTTTAAAAGGCCCTTGAAATATGCATTCAACCGATATTTCCTGAGTGTACGAATGCTACTTTAACACGGAAAGGGCACCATGGCCACTGTTCGAATGAAAACATTAATACTACACGGTTGTTGCTCTGAACAAGGTGGTTATAATCTGTTTGGTGTAAAGGTGGGATTGGCAGAAAAATCTTTTTTTCCACAATTTGCCATGTAGCACTATTTAAGAAATGTTGGTCACCTTGAAGCAGGTTTTGGGAAGAAATCTCTGACTTTTTCAGCCATGAAATATTTCTCTGCTATAGTCTGAATGTTTGTGTCCCCTCCAAATTCACATGTTGAAATTCTAACCCTCGAGGTGATGGTATTAGGAGGTGAGGCCTTTTGGGAGTGATTAGATCACAAGGCAGAGCCCTCATGAATGAGATTACGGATTTATAAAACAGGCTCCAGAGAGATTCCTAAACTGTCTACCATGTGAGGACATAGAGAGAAGGTGCCATCTATACATCAGGTAACAGGCTTTACCAGACACCCAATGTGCTGGTGTCCTGATTTTGAACTTCCCAGCCTGTAGAAATGTGAGAAATAAATTTCTGTTGCTTAAGCCACCTGGTGTGCGGTATTTTATTATGGCAGCTTGAGCGGACTAAGGTACCCTCTTTACTTAGATCTATTAACATTCCTTGGGTGTTTTTCCGTTTTTTTTGTTTTTTTTTAAATTATCCAGTATATGCAAACAAACACCAGGACATCAGATAGGAAGATTAAACCTCTATCCATTGCAGAATGAGTCACAGCCCATGTTTTAGTCTCTATCTACTTTCTCCAGTTCAAATTTCCAGTCTAACACTCAACATATTCTTCATCACTGTTCTGCCCGATCCAACATCCATCTCCATTACAGAAAATATGGTATTTCCAATTAGTAATCCTCATAAATTCCAATGCCTAAACACGAAACCGTTCAACAAATAATAACAGAGATGTAGGAGTCTTGATCTTTTCCTCTACCTGTGGGATTATTTGTGGGTGTGTGACATATGCCTTAAAAGACTCAGTCAAGGGACATTGCTTATGTCTTTATCTTACTACATATGCTAGGGTGCTAACTTTTGTGAGGGAGACCTAAAGCCTTGTATATGTATACACATTAGAGACTTGGAGAAAGTAAGTACGCGATGTTTAATTTTTAAGAGCACCATCGATAAGATCCTTGGCATCTGCTAGAGTGGCTGTTTTGTAAAGTACCATAACTGCCATTTATATCTCCAGAAAGATTTGAAAATCTACTACAGTGACTACTGTGGTTCTCACAAGACAGAGATTTTCAGATTAAAAAAATACAGTACCTTATGCTATGATAAATGGGAATGGAGGAAGGGAAAGAACATTCTTTGGGTCAAGCATTGTAACAGAAAATTTAACATGTGCCATTTTATTGATTCCACCTGTAAAACTCACCCTTTACATTGTCCCCCAATTGCACCCCACCCCCCTCCACACACACCCCATTTCCCAGACTAAAAGCTTCTGGAAAATAAAGACTGGGACTCATTCAGTGTTGTATCTGAATCTAATGAGAAGTAATAGGAGGATTTCAATTAATATTTATTGAACAAATGAATGAAACTCAATATTCTTGAGGCAAGATGCTTCTGTGCACTTACATATCAGTAAACAGAACTGAAGAAGTTAACATTTTTGGACTTGGAGTTCAGAATTAAATATGTTTGATTTTCCATCTGTATATCTCACTTCGTTAGATTTATGTCTTCTGTCTCCCTGGCCCTATCATGTCTGCCATTGTCCATTCGTTAACTGAGTGGGTTCATCTGCAGTTTCGAAGTCAGAATTCACAAACCCTGCAGTCGAACCCATGACATGTGATCTTGTTAGATTGCTTCTGTATAGGAAGATGTCTTTTGGGGAATCTGCCCAACTCATATATCCCCTTCTCTGTTAGTTGCAATCCAGGTGGTCCCCAGATGGCCCTTTTCTTCAGGGAGGAGCCCTGGCCAGCAAGGTTTGCACCAGTCACTGTGCTCCTGGCACTCATACATGTCCTTTTCTGCCTCCCTCTCATGCCCCAAGTGTGGTTTACCACTTCTTCATCTGTTAAGCATTTCTAACCCTGCCTCTCTTTCACAAACTGTTTTGATTCTTTTTCTCATTTAACATATTGTGTAGTATTAATGCTGTTGCGGATTTGTGCCTCTTTCCTTACTGGACTTTTTAGTTCTTTAGGGAAAGAGCTATGGCTCTGCTCCTTGATCCTTGTCTTCAGCCACAATGGCCTGGCATGTCCTCCTCGGCTCCAAGCACTTCCCTGCCTTGGGACCTCCTTAGAATGCAGAGGGTGTCCTCTGCAAAGAATGCTCACCCTCTATCTCCTCACCAGGAAAACTCTTCTTTTATTGGGCATCATTTCTATCATTGCAGACAACTCTTTTCCTTAAAAACACACACTCCACTTTGTATTATATGTGTGGATTTTATTGTTTCATATCTGGTTCTTCTAGCAAACAATGAGCTTTGAAAGGCTAAGGATTATATTTATCTTGTTCAATACTGTATGTCCAGCACCTAGCACAGAGTTGGCATAGAGTAAAGGCTCAATAAATGTTCGCTGAATAAATTCATCCTTGAATCTCAAATGTATAAAATGCATTCTTTGGGTCAAGCATTGTGACAGAAAATTTAATATGTGCCATTTTATTGGCACAAATGAGGCCCATTAATGTCTGAGAAATAAATTATTCAAGGATAATAAAAGAAAAAAACTATTCCTCTAGTCAACTAAATTCTGCCACATTATTACTTTTACACATTTAACCAAAAACTATTAACATATTTATTTAGCATGTATTATTTTGTGCAAAGTACAATGGCAGACACGATACGGCCAGGGAGACAAAAGACATAAATCTAACAAAGTGAGATATATAGCTGGAAAATCAAACATTTAATTCTGAGCGCCAACTCCAAAAATGTTAAGATTCTTTCTGAAATATTGTGTTGAAAAGTTCTCTGAGGCTGTAGATATGATCTGGGGGAAAGATTATCATGTATAATTATTAGTTTCTGTCCTGAGCATGGAAGGGAGATAAATGGCTGCACAAACGTTATATTTTCTGTGTCTATTATAGAAGGGCTGACATAAATGAACTTTTAAAAATAAAAATGTGTTTGGAGTGTTCCCTACTACTTTCTAGTTGTGTGTCTTCGGGAAAAAAATCACCTAATCTACATGTCACTTCCTTCATCTACAAAATAGTGATAACATTAACATCTCCATGGGGCTGCGATAAGCACCAAAAATAAAAAAATATGGAAATGTTTTACTAAATGTAAAACAGTCTACAAATGTCATTAAGCTAAACAGATGCACAGAAAAAATAACACCAATGAGTAAATAAACACCAAACAAATTTCTAGGCAGCAAACATTTTAGGAGTTCAAAAGATGGAGAGGCAGTTTCCTAGGCCGATTTATTGCTTCAGAGAGTAGAAGCAACATATGTAATAAAATGTAGAGATGGAGACATATACTTAATGCTGTATTTTAAATTTGGACTTCCTTGACACTATTTCTAGAAATGTTAGGCCCTGCAGCTATTTCATTAATTTTTTTTTCTAATAAGTTTGAGATGACTGTGACTGTGGACGTAATACTGAAAATATAAACTCCACAAAGTATGACCTGATTCTATCCATTTAATCTTTCCCAAAGCTATTACAAATGATTTATTGATAGGTTCTAAATGTAAGTAAAAAATGGAAGATATGTTTCAATCCCATAAGAATGAGATAATATGTATGACAAACCATATAAATATCAATAATAGCAATATATTTTTATTACATCACATATGCATTTTAAATAGGTAACTTGTACACATTAAGGGACATAATAAATGTTTTTAGAATATGATAGAAGAGGCAGTGGAAAACATACTTTTCTATTTAAGGCAATGACTATATTTTGGGAGTACTGGGCTTAGAAAACAGACATTTTATACTTCATTTTTCTTATGCATTTACATAATTGCCAAATTTCATATCTATCCTAATATTACATTATTCCCTGCATAGACCTATGCTACTGGTCAAGAATTCTGTTTGAATAGTTTCAAACAGAAAGGAACTATAATGCTAATATAAAAGTATCAAATTCATTATGTTTTAACTTCAGTTCTGAAAATGTGTATAATCTATAGTTAGTGAAAGAAACAAAATCTTGGATTAAGGAATACATTTTTCTAGACAAGCTCTTAGATAATGCTACTCAAAGTGCCTGTCTGCTGTATGAAGAATACCTTGGGCCAAGTTGAAAATCAAAACATACTGCTTCCTTCATTGACAATTTCTTGCTCCATAAAAACAATTTCAGCAAACTGAGTAATGTACCTGGGGTCATAATTAATCTACATTTGGTATAAGTGCTTTATCTTTTTGTGGATCAAAAGCAAAGGGTTCATGCAATGGTAGCTAGTCCATGGATCCCATCTGAGCTGCAGTGGTCTACGGAAAACTAGGAATGGATTGATTATCTTCAGAATGACCTACTGAATAACTAGTCTTATTAGTCAGAGAATTATTCTAGAGCTGCCTTACACAGCATTGTTTTGAGAGAGAAAAGAGGCCAATTTTAAGTGTATGATATGATAGATTGCATTATTGTTCGAGTTCTTCATCTTTCTATAGTTTCCACATTCTTTGTCATGTGACTTTGTAGTACTCCCTCTAATGTCAACCACTTTATTTTCCTGCCCCATTGATACTGAGGCTGGGAATGTGAATTGACTGAGACAACAGAATGCAGGCAGAAAGAAGTGTTGGGTACTAATTGTGATTCTAAGCCTTAGGAGTCATCCACTGTTTCTACTAGACCCGCTTATGCTTCTGCTGCTGCCATGAGAAGCACATGTATTGGGTAGCTTGTTATGCCAAAGATAAAAAACAAATAGAGCAGATCGATATCCAACCTGACTCTGGGAGCCAGCACCATCCAATCCTAGTGTAGGCCTGTCAAACTCGACTTGATCTCAAACACAAGAGAGAATAAATGATTTCTGTTTTAAGCCACTGAGTTTTGGGATGGTGGTTATACAGCTTATTATGCTGATAGCTAACCAATTCACATTAGAACAGCACCTTCCAAAGCTTGGGTGGAAGAGGGCTGCTGAGATGGATAGCATTGGTGGGGGAATACTAACACCTTGGGTACAGGCATAGAGGAAGGAGTATTAATGGCCAAGTTTATGAGTAGCACATTCAGGCAGGTGGTAAAAACCCATTAATTTCACAAGTACTAAGAATCCCATCAGGACTCTGATACAAGGAAACAACCATTCTTCCTTATTTTCTACCCCAGTTAATGTAGCAAAGGACAAAAAGAGAACATAAGCACAAAGACCAGTACTTCGTTAATGAAAGAAGAATGTTTCAAACTGGAATAGAGTAGAAATTTTAATTATTCACGAAAGAGTAGGGATTTTAACCTAATAATAGAATGCCAGCAGGCTAAAATATATTGGGATCTACTCTTCAGTTTGCTTTCTTAAAATAGTTATGATAAAGTAAAAGTAGAGTTTGTATTTCACACTGTGGACTCAATTGATCTACAATCCTTCGTGTTCTTCCTTCAAGTTCTAACATAATGCATTCCACTGGGATACTGTTCAAGATTAATAGTTGGACTCAACAGCCTTAAAGAGACAACTGCATTAATTTACGTAGACTCTGTGCATTGACTGGACAAATAGGACTTCTTATAGGATAATGCTTTTGTAATTATTGTTTGGAAGTATGACATTACAGTAACATATAAAACCTGCAGCACAAATAAAGAATAGATTTTACCCCCCTCCAATTTCCTAAGGTCAATTTCCAAAATACCTGACTGCAACCTATAGGGGAAAGGAAAAAAACTGACCTTACAATTTACAAAAATAAAAGTGATACAGTATTTTGTCTCAGTTTGTTTTTACTATGCTAAGCCAAAATTTAGTATATATATTTGAACCTTAACAAATATTTAGAAAATATTATATATGTATATCTCAATATATATACACACACTATAAACATATAATGTGTGTGTACATATATATGTGTATATTCATACAAAATTTAGTGTGTGTGTGTACATAGATATATATGTATATACACACACATAGACACACACACTCTAAGTTTATAGGCTATTTTTGCTGGTAAAGTTTCCTGAACACTATGTAGGTAGTAACTATAAAAAATATAAAATTTGTTTTTTTTCCTGAAAGGTTTATTGTTTGCACTTCTAGATAGTGAAAAATGAAAACTATGGAAACAATGACTGCCCAAGGAACAAAACATATACACAAACCTTTGATTTAGTAACCATAGCCAAACTCTGTGGTAGCTCACTTAATAAAGTGGTTACAGTCATTTTGGGGGGCTCCCCAGGGTGAAATGTTCCACTTTTTATAGCTTTGTATATAATTAAAAATCTGCTATAACTATGACCTTGAGTATCTCCTCAAAAAACATATAATTAAATAACCAGAATATCTAATAAATAACAGCTGCAAGGTAAGCAACAGAAAACGCCGTCTGAACAGTATTTTACTTACATCTTTCTGAACTACAAACTTCTTTGCTCTAATGCATTTCTAATAGAATGTCAGCCATCCTGGCTTTACAGGAGCTCTTGATATCACAAGCTTTAATGGCCCTTTTGCAATTAAGGTGAGGTATCTGCCATTTCACTCAATCCACCAAAGACAGGTTTATATAATCATTCCAGAAATGTTCCTTCCTACTGGGTAAGATTTAAGAAGTGCTGATTTTGAGTAGAAGAGAAAAAAAAAGATGTTTATTATTTATATCCATGGTTCTGGCTTTAGTATATAAAAGCGCACTATCGATCCATTCTTAGTAAATTGTACAATTTTTCATACTGTCCAGTGTTACTATCATGTAAACACAATCTACTGTTAAGAAATGTCACATAACTTTTTCATGAAACACATTATGTAGCCATAGAATAAAGATTAAGTAAACATGATCTGGAGATTTGCTCAGCATTTTTCTTCCAATGATGAACTATTATAGCTACCAACTATCAGATGGAATTTTACAGGTTGGCAAGAAGTCTATCACAGCTTATGCATTTACTGAAGAACTTCTTCTAGGACCAATTTCCCTGTTATACCTAAAAGTCTAATTCAGAGCAAAATGACCACAACATGTACTTGTATCATTCATTAGCCATATTTTAATATGCAAACATTGCTAATATAAGAAAAAAAGGTGGACAAACTTGGAACATACTGACTTGCATTAATATGATGCCAAGCATTTCCCCAACAGCTTTTCTTTAGGCAGCCTCTTATAAACTTAAACATATGCCATACATGTAACATTAACGAAAGCTCTCAGGAAAAAATGTCACATGACTGAAGAGGTGCTTTCCTTTGGGACTCTGGTAAATGAAAAGGTCTCATAAAATGTATAACTTGGCATTGAGTATCGAAAATAAGTTTTTATCTCGGGTTATAAATTAAGATAAAATAGGTAAATCAAAAGGATTAATATCTCCAAGTATAGGCTTTAAGGATACATTTGAATATGAAGGTACCATGCAAAAAAAAAGAGATCAGCTTTATTCATCAGTAATCATGCTGCTGTAGACATTCCACATGTAAAATAAATGGTCAGAGTACATGAATTTTCTTCAAGGAACCACAGTGAGTTGACTGAACTGCATATAAATAACTGATACTTAAGCTGGTGTATCTCTAATGTTTGCTAATACAATCACATAACACATAATGTTTCCCTCAATGACAAATTGTATGTAAGACAGTAGTCCCATAAGATCATAACATTGTATTTTTACTGTACTTAGGTTTAGATACACAATACAATTGTGTTTCAGTTACCTACAGTATTCAGTACAGTAACACGTTGTACAGGTTTGAAGCCTAGAAGCCAAGGGCTATACCATACAGCGTTGTAGGTTATGTAGGTTTGGCTAAGTCCACTCTATGATGTTCACACAATGATGAAATCACCTAAAGATGCATTTCTCAAAAGTATCCCTGTCATTAAGTGGTGCATGACTGTACTGTCAAAGCAATGAGATAGATACATAGGTCTCTGTCAAAAATGTGCATACAAATGACCTATTTGCACATGTAAGTGTCAAATCTGTATAATCTCTATTGAAGAATGGATCTCAAGAAGTTGTGGGAAGAATATGAAGCATGTCCTCCCAAGCTATATTGCTCAATTTAACTGAATATCATAAGTGATTGATACTTTAGAATAACCCCCAACTCAATGCTATGTGTATTTTTCAGGAGTCAACAGGATACCAACATTGAGATCCTTCTCTTAAATGTAAAGAAACTTTTGCACAGAACTAAAAGTGTCAAAGTGGAGACTCAAACCTTGGCACATCCAAAGCCCATGCCCTTAGGGCTTATGCCAAGCTGTCAGCCTATTACATTTTATTACATATTGTAATTACCAACTGCATAAAAGTTTGAGATCTATTGACAGGCACTTTGAAATCTGAATCAGCCAATTTAGAGCAACAGTTGAGAACACTGTTATAGGACATGCAGAATTAATAAAAGCTACACACCAAAATGGAACCTTGACCCAGGCATCAAGATTTTGACCAGATGGTATGGGGTGCAAATCCACTGTGTCTAGCTTTCCGTCAAATCTACATGAATTGTTTGACACTCTAGAAAAAATTACTTGAGAAAAACAAACACAACACAATGGATACAATGGATAAAATATAAAACCCTCCCACGCCTGCCAAATACAGTTCTGGTTTGTTTCTCCCCAGAAGGTGACATTGAGACAAGGATGTAGATACAGGCAGTCTTTATTTGAGAGGTCATCCCAGGAAGTACATGTGAGAAAGTGGATAAACTGAGACCAGAATAAGACCCCAGAGTTTCCCCTAGGGGTATGAAAGCCTCAGCATTTCCTCACTGAGGTGGCCTAAGCAAATCTCCCAAGGGCAGAGAAACTAAGACCCAAGGGCACTGGAAAGCGGAAGGTGTCAGCATTTGTAGGAACACAAACATGAGCACAGGGAGATGAGGCAGGGCAGCAACAGTGTCTGCTTCAAAAGAACAAGCATCACAGAACCACAGTGCTGTTTGCTCACTCACCTGCCTGTCTAAAGAACTGATGAGCTTCCAGCCTCTAGGAAGCAAAGGTAGCATCTTTCTAAACCTGCTGTCCTTATTTTGACCTTTTCTCTTGTGCACCCACATATCTGTTAGGCACCACATGGGCTCTCTACAAAGGCCCTCAGATGGTCTTTGTGTTTCTGCACTCTGTACTGGGACAGGAAGGGTGGAAGCTAGGGTAGGAAGGGCTGTGTTCCTGCCGCTCCTGCCATTGCTGCTGTTGATCCCAACTCTGCAGCCATGGCTGTAACACTATCTTCTCCTGACCTCCACCTGATGAATACTGTATCAGGAGAGGCTAGTCTCTGCCCATGAAAGTGCCCATATGTGTGTTTTCTCTTCATTCTTCTCAGACTATGCTTTCCTTGCCTTCCTATTTTGATCCTAATCCATGCCTTCTGGAAAGAAAGCCTGACCCTTGGCCATTCACTCAAAGCAACAGGGAATTAATTGTCTACTAATAGTTTCAGAAGTGAGGTTTTTGCACCTTAAGATCTATTGGTGAGTAGAAGAAAATACTGGACATTTAATTTGTATATTTATCAACTAACCCATTTATAATTTCCATCCATTTTATATCTTATGTTATACAATATGACATATAGTTTATAAATATACAAATATTGAGTGTGACCAAAAAACATTTTTTAAACCATGATGCACACCACTAAAAAAGTTTGAAGCACCTGCTTTGAGATAATTCACCTGTTATCCCATGACACAGATCAATGACCTCTGTCAAAATCCCATTTTAAAAAATTCCAGTTTTTAAAGGAACATTTGGATGCCTGCTATCATTTGTCTAGAGCAGTCCCCTAGGTTTGAAAACCTTATGGCCTCATGGTTACAATGTCCAGTCCAAATGACTCTGGGCATTCACTGTGAAATGTTTGATCTCCTTAACTCTGTAATTTGTTTTGGGGATTTGGTTTTTTAAAAAAACCTTTGAAGGAAGTGTCCTGTGGACTGAGACTCTTTCATTGTTCCATCCAACAAATAAACTTACCCAACAGTAATTCCAAATACTAACTTATTGGAAAGACCATACTTATATTCTTGATGTCAAGTTCAACAGTTTTGTTGCACACAAGGTAAGCCATATTAACCTGACTTAATATGCTACACTTTTTCACTATTAATTAGATGAACAGATTGTCTTTTCATTGTGTTGTGTCTGCTTAACAATTCTATAAGCACCTTATGAACAAAGACCTTGTCATCTACTTTCTTTAACCTCCAAGAACACTTTGCAGACTGCTATGGTTAAAAATGACATTCAAGAACATGATACAATCATATGCAATGAAAGGATGTATTTATTCAACCTTTGAAAGTTACTCCCTGGTGTTGAAACAGATTTGGTGATCAAGATTGTTATGAACATTCTGCGGCATCCTGGAATGAATGCAAGGTTGAAGGCAGCTGTGACAGTTCTGACAGCACCTGGTTCTAGTCAATAAGGAGTTAAAAATTAATCTACATGTGTTATTTAGCATTTATAAATTCCATCCTCTTGTCTGACTTTTCCAGGTTATTAATTATTGTTTTCACTCCTACGAGGAAAAAATGACATACTTTGGTAGAGTGCTTTTCTATTTACAAGACAAATTCAAATTATCCGTTAAGTCCACACCAAAATCCTATGGAAAAGAGATTATTGTCATCATCCCCATTTTACATAAGAGGATAATGAGGCTCGGATAAATTAATGCTTTGTCCAAGGACATTCAGATAAAAAGTGACAAATCCAGGGCACTTAAGCTCTACTTTTGTTACTTCAAAGCCACAACAGGCTTTCTACGTCACTGACCTGCATCTTATCCAGTTCTTGTGTGTGTTTATGTGACTATTTTTCCAGAACTGCAGATATAGAATACTGTCCTTTTATAAAAAAATAGAATAACATACATTGATTAAATTTTGATAGTTTTTTGCAGATGCCTGTATTTTGTTGACTCTTTTTGGTCACAAGGGCAGATTGAATTGATATTTTCAAAGAACAGATCTCCTGGCCTTCTTGGTAAGAAGTTATAGCTTAGAGCCTATTAGATTAAAAAGCATAGGCCGGGCGCGGTGGCTCACGCTTGTAATCTCAGCACTTTGGGAGAACGAGGCAGGAGGATCAAGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGACAGGCGCCTGTAGTCCCAGCTACTCTGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGTAGTGAGCCGAGACCGTACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCAAAGAAAAAAAAAAAAAAAAAAAGCATAGCATGGATTCCTTTTTCTTAGGAAGGCAACTTGTATTTAGGATAATCCTAGTTATTTTAGTTTAAAAAATCCAATATCATAAAGGGGTGATCTTACCTAACACTAATACAGAGAAGGTACAGACCTGAGGCTAACTGCTAGATAAATTTGCTATATCCATCCCTACGAACACAAATTATGGCTCTTAGTTGAATTTGTCCTCTTTTCTGTTTTTGTTTTTGCTTTTTTTTTTTTCAGGCTGGCTTGCTGCATATTGAGGAGCTGATGATCCTGTTTGCTTTAAATTTTCTATGAAGAAATGGTCTCAGAGCCCAATTTTAATATCAGAAACGTCAACTACAGTGGGGCTTCATTTTTTTATGTCAGTTGAATGCCAGTATATTTCATTTGTGTAAACAGTAATTTACAAGTTATCCTTGGAACACTGGGTTTCTTGTCTCTTAACCACTGGCATGAAGGGGCCACCACAACCCTGCATTCTAGATAAAAAAACACTGCAGTAAGAACATGAAATAAAACCAAGTCTTTGTTCACAGTTAATAGTGTTTTAAGTTGTTTTGAAGTAAAAAAAAAATGCAGAAAAATAAAAGACAAAAACAGTTTTTTTAGAGTTGCCTGAGAGATTTCAGTTCTATTTCATTTAAAGTTTGTAAAGGAAAAAAAAATCAATGATACTATCTTCTTTCTCTTCAGCATCATAAATTGGTTCCCTGATTTTGAAAGTTAGAGTACGTAGTTACTCTGATTAGTTCCTGTCCTCTGGAGGCCTCCAACGACTTCTGTGAATAAGCAGCACTGAAATATTTTATCAATACATAAGTAAACAAGAGCATATCAGCAGTTAAGCACATTTTATGAGCTGAGTGAGATAGAATATTCATAAGTGTAATGGAACAGAGCATGAGCATGGGAGTGCCACATCTTTCAGAATAGAGAGACAACCTGCAGAGACATTAATGTTCCCAAACCATTTAAAAAATAAAATAGAATATGCTATGGACTAGATACCATTGGGATGGTGTAAGAAGGAATTCTTCTATACAGGCTGCTAAATTTAATTTTTCTGAGAAAAATAGGTGAGTTGATTTATCTTTTATTTGTTATTTTTAAAAGTGAAGCTTTTGTTGATCAGTCTTTGTTTTTCATTTTCATGGCTGGAATACAATTAAATTCTATAGACAGATGGGCTTTAGCCATGCTAATTACTATGGTAATCAATTAACTCAGCTGCTGTTTAGAATAGAGAAAGCTACATAAACAACAATCTGAAGTTTTGTCTTTTATAAGACAGTTGTGGAAACATTACCTATCATGTACATAATTCATAAAATATCTAAATGACCATGTTGTTATGGTACATTTTTTAAAATTTCTTTGGAATCTCTCAATATACTCTGTCCTATTTGGAAGCTAACAAATTTCATTCTACAAAGACTGACCCAAAATGTCACCATAAATGAAGTGATGTGCCATATAAATACCTGTTGAGGTGTCTTGGCCAGTGGCTAGATCTTTCCTGTTTGGGTGGACTGCATGCTATTACTCTGTACACTAAGGTTAAGAGTCTCATGTCACAGAGGTGAGTGTATGTGGATAACATGAAAAGTGGTCATTTTGAGAATTTTTATTGTATGATAGATAAGTGTTTAGTACCATCAACAAATTCATAAACTATGATATCCACTAATTACAGGCCGAACATCCCTAAACCATAAATCTGACGTCCAAAAAGCTCAAAAATCTTAAACGTTTTGAGCTCCAACATGATGACACAAGTGGAAAATTCCACACCTGACCTCACGAGACGGGTCTTAGTCAAAATGTAAGTTAAAACTTTGTTTTATGCACAAAATTATCGTATAAAATTACCTTCAGTCTATGTGAATAAGGTGCATTTGTAACATACATACATTTCGTGTTTATACTTAGGTCCCATTTTAAAGACATCTCATTATGTATAAGCGAATATTCCAAAACTTCAAAAAACTCTGAAATTTCAAACATTTCTGGTCTCATGCATTTCAGATAAGGGAAACTCAACCTGTATATACATTCACATTAAACCACCCATAAATAATTTTGGAGATCCCTGACGCAGACAACATCCACCTAGTTTCCAATAAAATATCTTAATAGGCTGGAGAATAATAAAGGCCAGGCTGAAGGGCAATGAAATGCCAAAGTCTTGAAGAAATCTTCACGAACTCTAAAGCAGATGAAGGTGAATTGAGAAGAAGGCCACTCAGATTTCAACTCAGGGCACTGCACAGGCTTGTCCTCATGAAATAAAGACTACCTCTTCACTACCAAAAAGAAACACAGCATTCGTTATTTTTTGTCAGTGTGAAGAAATGTTAGGATGGGACAACCACTTTTTGAGAAGCTCAGACTACTATTCCTTTCCTATACCAATCCTACCATCTTAATGCATCCATTTGGTTATAGATCCACCAGGAAAAAATATGAACAGAAAAATGTACATTCATGTGAAGAGAAAGAGGTCAAGCAAGTGGTATGATACATCAAGGAAAGGATAGCTCTTTGGAACCCAGACAGGTACACTATAATCATGGTTAAATTTACCAAATCATTCTTCCAGGCCCACTTCAGTGACACTTCCTCTAGTGAGTATTCTGGACAGTCCCATTCACTCCCTGCACCCCACCTTATCCCAAACAAATAACCTCTACCTCCTCCTCTAAGCAACCACAACATTTTATTTACACATTTCTCATAACTCATTAATTTATATTACATCTTATATGAAAATTAACTCATGATGGATTAAAGCCTTAAATGTAATACGCAAAACGATCAAAACCCTAGAAGAAAATCTAGGCAATACTATTTGGGACATGGGCATGGACAAATATTTTATGATGAAATCTCCAAAAGCAATTGCAACAAAAGCAAAAATTGGCAAATGGGATCTAATTAAGCTAAAGAGCTTCTGCACAGAAAAATAAACTATCAACAGAGTGAATAGACAACCTATAGAATGGGAGAGAAATTGTGCAGTCTAAACATCTGACAAAGGTCTAATATCCAGGATCTAAAAGGAACTTAAACACCTTTACAAGAAAAAACAAACAACCCCATTAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGATATGCATGCGACCAAAAAACATATTTAAAAAAGCTCAAGCATCACTGATCATTAAAGAAATGCAACACAAAACCATAATGAGATACAATCTAATACCAGTCAGAATGGTGATTTTTGAAAAGTCAAGGAAACAACAGATGCTGGTGAGGTTGTTGAGAAATAGGAATGCTTTTACACTGTTGGTGGGACTTTAAATTAGTTCAACCATTGTGGAAGGCAATGTGGCGATTCCTCAAGGATCCAGAACCAGAAATACCATTTGACCCAGAAATCTCATTACTAAGTATATGCCCCAAGAAATGTAAATCATTCTATTATAAAGATATATGCACATGTATGTTCATTGCAGCACTATTCACAATAACAAAGACATGGAGTCAACCCAAATGCCCAACAATGATAGACTGGATAAAGGAAATGTGGTACATATACATCATGAAATACTATGCAGCCATAAAAAAGAATGAGATCATGTCCTTTGCAGGGACATGGATGAATATGGAAGCCATTATCCTCAGCAAACTCATACAGGAACAGAAAGCCAAACGTCTCATGTTCTCATTTATAAGTGGGAGCTGAACAATGAGAACACATGGACACAGGGAGGGAAACAACACTCACTGGGGTCTGTCGGGAGAGGGCAAGGGCAGGGGAGAGCATGAGGAAAAATAGTTAATGCATGCTGGGCTTAATACCTAGGTGATGTGTTGATAGGTGATGCAAACCACCATGGCACATGTTTACCCATGAAACAAACCTGCACATCCTGCACATGTACCCTAGAACTTAAAATAAATTAAAAAGAAATAAACACAGATATATACAACAACAACAACAAAAATAATGAATAAATAAATAAATAAATAACTATCCAAAGAAATACATGTTATTTGCTCATGACTGTTCTGGCACAATTTATTGTATTACTGTAAAGCAAATAAAAGAATTATGAAAACATTAGTTATTTAACCTAAGGGTACAGCTTTTAAAATTCTGCATCTTTTCTAAATTGCACTGAAAATCTCAAGTTATGATTTAACTCTCTTAATAAGTCTTGATTACACGTTAAAGGTAATACAAGCACATACTTAAAGGAAGAAATCCCAATGTAGCAAGCAAATGTATTTATTTAACATAGTTTAATTACTGTATATGTTACATAGTGACATTTATGTAGGTATTCTATTTTTTTTCACTAAAAAGACAATTATTTTGCTTAGTACAGCAAGAGATAGTAGTTTAAACATCAACTGACTATCATAACTGAAACCATCAGTTATGTGGATTTTTTTCTTTTTTTTTTTTGCTACATTTTTAGAAAGAGGCAAATTACAAAAGGTATTGTGGATTTATTAAAAAAATAACTTTGGGGTTATTTACTTGGTTAGTATGAAATCAGTACCATCTCTTCTGTTTTCTGGGCATTTAGGCCATACAATTAGAATTGATTTCTGAGTGATAGCCTGGAGACTCTGCAGGAATCTCACTTATCAAAAAAAATTTAATTATATTCTTATATTGTACTTACTAAGGGAGAAAAGTAAGGGAGTATACTTCACAAAGAATTCCTCAAGAAAAGTTTTGATAACCTCAGTTACTTAGATTTACATACCTCAATAATTCAGATAACCCATTTCTCAACAGACTACATGATAGGGATTTACGGTATAACAACAGTTTATGTTTAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTAATATATTTTATATATATATATATTTCCAATTACCTCCAAGTTCATTATACAGTCAGAAGAGGTTTTCATTTAAAATTCTGAGTTGGGACAATTATACATATGGTATTTGAATCACAAATCATGCTGGGTAAAATGAAAGAATCAAATGATGTATACACAGAAGTACTAAACACAGGAGGCTGTGTTTACCTTTACAGATTCCAGGCTGTTTTGCAACAGATATAAGGGGTGGATGGGTGGCTGGACTATGGAATCCAAGGGATCCCTGCCAACCCTGACATCCTGTGACCAATGAAATGATGACAGCTCATTGGCCAGACCTTGAGGCTTTTTGCTTTCCAGTGTCTGTTCTCAGTAAAAGGTAAAATGCTGAAAAACAAATAAATGTAAAGTGCCACCCAAAGTAAAAAAATTACAGTGAGATAATAAAACACATCACATAGAATTTAAATATGTTCAGTATGAAGGCAATGGTATAGAAAAAAAGATGTTAGTTTCTTTTCATGTGAACTCACAATTTTTGCTTTATGAAAAACAAAAGGAAGCTTATTCTACAAAAATAATTTCATTTGCTATTAAAAAAAACAAAAGCCCCAGTATAATCCTCCTCGCTATGGTTTTAAGAACAAATTGTACAAAGCTATTTGGGGAAAAAAGATAAAGGAAAACTGAATTAAAGTCTTACTGGTTTCTCAATCTGTTCTTTAGCAGAGTAGTTTGCATGTGACATCTCACATGATAATTGTTTCCAAACTCAGGGGAAAGCACTAGTAATCTCTGATAAACTTGTCAGGGTGCAAAGAACCATAACATAATATTATTGAGTCAAAGGGTCATTCATTCATCTGTAAAAATGGTGAAAATTACAATGCTAGATTTTTTTTCTTAAAATTAAAAAATAATCCTTATATGATGAAACACTGTCTTTCCAGTTGAAAGCTCTAAGTCAGGTCATCTTCCTTCTCACCTTTGTGTCTCCACTCTGGCGCACCCTGCATGGCTGACTCCTTGTCATCTTTCTAAACCCAGTTCTTTCAGGATGTCTTCTCTCCCCAACATCCCTCACCATCTTCTTCATCTCTTCTTCAGATATTATTAATTTCTCCTGAATACCACTACTGTGGTATTTTTTACCCTTCAATTTGTGTGTGTGCATGTGCTCTAATTTAGACTGTGAGCTCCTTTAAGAATACAGCCTATATTTAACATTATTCACGTCTGTTTCCCTAGAACTTAGCACATGCTTCACATACACTGGGCGTTCAGTCAACATTTCTAATATAAGCAAATATGAGTATAGAAACATTATGATAATTAGAGCAGTGAGCGAGACATAGTCTTCCATCTGAGACAAATACATGAGAAACAGGAGCCAAAAAATAATTATTTAGGCTGATGTGACTTCCTTCTCTCCATAATGGAATAATGGTGTAACAGTGCAGGCCTTCTAACAACCCTTCAAAGAAGGGGGTGAAACTAGGCAGAGGATATCGACTATCTTGGTTCATAAGTAGGTACACCTGGGAGTACCAAGCCAGGGAAACATGAGCTCTGCACAGTGCAAAACACTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCTCGGCTTACTGCAAGCTCCACCTCCAAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCCACCCTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCGCGCCAGGCAGCAAAACACTTTATTAAACATAGAGAAAAATAACTGGCATGCAAGGATTTCTACCCAATCATCATTTGCCTTGAAGGACTTTTCACCATGACAGCCTTGTATGTGTGTGTGTGTAAGTGGGGGTGGGGGAGAGTAGGGAGAAGGTGGCTGTGCCCAAATGTCAGAGAGAGGCATATTGGCCTCTAGGGTGGCATCCTTAATGAATTTTCCTACAGAACTGATGTCAAATGGGTCACCTCAAAGGTTCATCTCACTCATTCATTCATTCCCCTTCAAGGCAATGGCCCATCTACCCTATATCCCATTTTAGAGACCCTCTGTGTTATCCACACATTCCACTTTTTTACACTCCCCACCTCCAAGGGGTATGCACACTCTGTCCATTTTACTCAAGAAACATGTTTATTCTCTACTGCTTTGGCTTTGGGCCTCCTGACTTTCCACACTCTAGCAACAGCTCCCTCTTTGAACCACTGGAAAAGCCTCCTGACTGGCCCTCCTGCCACATTATGTCCTCCATGTGTTGCAAGAAGCCTCTTCCTTAAGTCAATTTAAAAAAAAAAATCACAAACACCTGCTTCAAATCTTTTCCCTTTCCTTTCCTTCCTTACTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGGAGGAGGAATTCTTGCTAATTGATAATATTTAATATTTAAACTCCGTAGATTCACATATGACTTCATCAATTGGCTCAACTAATTTTTTTCCAGCTTCATATCCTGGTATTCAAAGTCATGTACAATTTTTTTATTGCACAAAATGTCTCATCTTTCTCTAGAAATAACAGCCCTTGCCATAAATTCCTGCTTTTGTAACATGAAACTGCTTTCCTTTGGAGTGAGACCACTTTGCACCTGGAAGATGCTCATCCTTCAACATCCAGCTTGTCTCCTCCTTAGGAAAATATCCTCTGTTCTGTTGGTGATACTAAAGGCAGTACCCTGAACATGTCTTTGTAAAAGATTTTGCCTTTAGTATTGTGATTACCCATTCACCTGTCTATCCCTTTCCAGAAATGTGAGCTCCTCAAGGGCAGGCTCCAAATCTGACTTTCCTACTATGCACATAGAATGGTACTTGCCATGTAAGAAACAAATCCTTACTGTTTGGGGAAAAAACAAAAGTACAAAGAATACAACTCTAAAATGAACAAAACAAATGATAATATGCTGTTTAGAAAGTGTTGAAAAACTAGGCATGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCGAAGTGTGGGGGATTGCTTGAGCCCAGGAGTTGGAGGCCAGCCCGGACAACACAGTGAGACCCCAAATCTATTAAAAAAAAATACAACAATTAGCCGGGCATGGTAGACTGTGCCTGTAGTTCCAGCTTTTCAGGAGGCTGAGAGAGGAGGACTGCTTGAGCCTACGAGGTCGAGGCTACAGTGAGCTGTGATTATGCCACTGTACTCCAGCCTGGGTGACAGGATAAGATCCTGTCTCAAAAAAAAATGTGTTGAAATCATTTCTTTCATATCATGTGTTAAATAGGCTTTGAAGGGCTGGCCTTGAAACCTGACAGCTTTGAGCCATCGTGTATCCATGGGAGTAGGCATTCTAGGTTCCAAACAGCACACTTAGAAATGGACTTTGGAACACAACGTGCTACCTCAAGGCTCCACCTGGCCACACAGCAGGCACTGAGGCTGGGAGACAGCCCCCAGACAGATGAGTGTCCGCGCCTCTCTGAGAGGTGAATGAGCCCGGACGGTCCCTACCTACCAAGTCCTGAGGAGCAGCGGCACCAACGACGCAGGCCCGCCCCAGCCCGCCAGTGAGCCGCCCATGCCCTCTGCTAGCCCGGCCCGCCCGGGCCCCCGCCATGCTGATCACCGTGTACTGCGTGCGGAGGGACCTCTCCGAGGTCACCTTCTCTCTCCAGGTCAGCCCCGACTTTGAGCTCCGAAACTTCAAGGTCCTCTGCGAAGCGGAGTCCAGAGTCCCCGTCGAAGAGATCCAGATCATCCACATGGAGCGACTCCTCATCGAGGACCACTGTTCCCTGGGCTCCTACGGCCTCAAAGATGGCGATATCGTGGTTTTACTGCAGAAGGACAATGTGGGACCTCGGGCTCCAGGGCGTGCCCCGAACCAGCCTCGTGTAGACTTCAGTGGCATTGCGGTGCCTGGGACGTCCAGCTCCCGTCCACAGCACCCTGGACAGCAGCAGCAGCGCACACCCGCTGCCCAGCGGTCACAGGGCTTGGCGTCAGGAGAGAAGGTGGCCGGCCTGCAAGGTCTGGGCAGCCCCGCCCTGATCCGCAGCATGCTGCTCTCCAACCCCCACGATCTGTCCCTGCTCAAGGAACGCAACCCTCCCTTGGCGGAAGCCCTGCTCAGCGGAAGCCTTGAGACCTTTTCTCAGGTGCTGATGGAGCAGCAAAGGGAAAAGGCCTTGAGAGAGCAAGAGAGGCTTCGTCTCTACACAGCCGACCCACTGGATCGGGAAGCTCAGGCCAAAATAGAAGAGGAAATCCGGCAGCAAAACATTGAAGAAAACATGAATATAGCGATAGAAGAGGCCCCCGAGAGTTTTGGACAAGTGACGATGCTCTACATTAACTGCAAAGTGAATGGGCATCCTTTGAAGGCTTTTGTTGACTCGGGCGCCCAGATGACCATTATGAGCCAGGCTTGTGCCGAGCGATGTAACATCATGAGGCTGGTGGACCGACGGTGGGCTGGGGTTGCTAAAGGAGTGGGCACACAGAGAATTATTGGCCGTGTTCATCTAGCTCAGATTCAAATTGAAGGTGATTTCTTACAGTGCTCTTTCTCCATACTTGAGGATCAACCCATGGATATGCTTCTAGGCCTAGATATGCTCCGGAGACATCAATGTTCCATCGATTTGAAGAAAAATGTGCTGGTCATCGGCACCACTGGCACGCAGACTTATTTTCTTCCTGAGGGAGAGTTGCCCTTATGCTCTAGGATGGTAAGTGGGCAAGATGAGTCTTCGGACAAGGAAATTACACATTCAGTCATGGATTCAGGACGAAAAGAGCATTAAAGCACGTTATAAATATGTTACCACCTTGAGGGAGCCTCAGGTCCCCGGCAATTATAAGTTAAGAGCTTACTGGCAATGTAATCATTAAAAAACATCAGTAACAACTAAACCTGGCCTTGGGACTACGTTCTCAGATGGGTAACTAACGTCAATCCTGATTCCTTGGTCTTGGTCCCTCTTCCATTTCCCTTGTCCAGAGATCACTGAAAGGCATCCTGGGAAGGCTCTGGAGGCTCCAGCTGATTTCCAGATAATCCATGAAAAAGAAAACCAGCTTCTTCCTTTAGAGACACTATCCTATCAGATTACAGGTGGCTTATCCAAATCATTGCTATTTTGCAGAATTCCCTGGAAAAATGCTATGGCTGCAGACCTTACAAGGCATCCACATAAAACTATTTCACATCAGCACTAATAATTCTTTCTACTGAGAGAAATATGCCCATTTTCACAGGTTTTGTTTTCTTTGGGAAGGGTATTAGAAATGGTAGGTCAGTTACACTATGATGTTAACTAATACTTATACATGTCTGTTTGGGGCAGCATAAAGACCAATTTCCTCATATTTACACCTTCCCTTCCCCTGGATCCCCTGCAGTCACCCTGCAATCCACAGCTAAAGACTATTTTTGCCATATTTGAGAAAGTGGATTTATCTCCAAGGATGCTACATTAATTTTCTATTTCTCCTGCATTCAAAGAAACTCTGGCTATAAAACAAAGGCAATAAATTAGATTTTTTAAAAAAGAAATTATGGTACTTCTTGGGAGTCAAGTTGTACAGTGGTGGGAATGAGAGGTGGGGACAGGCAGTGGTCCAGGTTCTCTAATAGTCATTGCAACTAGATCATCTCTCTCTCTTTTTCAAAGTAAAAATCTGCTTTATACATTAAGCTGCTGCTACATCAGTATTGTTTGAACAAAGGTTTTCACTGTTAAAATAACATTTGAAAACTTTTGAATGAGAAGATCTCTAAGGCCTCATTCAGAATTATCCATTCTGACAATGTTAGTGTTTATTACAACTGACAGTGGGTAATGGAAGATCCTAGACTTAATTACAACCCATGGCTAAAGCACCTGAGAGAAAAGTTTCAGCTTCCTGAGGCCATCAGATGCAGGGGAAATGTTTCAGGACAATAATTTATCAAAACTAGTATTAAAACAGCGGATTCAAAATCAAGATGTGTATGTTTTGATTACACTTAATTACTTAGACAAATTAGTTCACCTACTTTACAACTGAGATTCCTCACCTAATAATTTTTTTTTTCCTGGGAGGGGTCACTTTTCAAGCACTAAAACCTCATTATCTTAAAGGATCTGGGATATCCTTTAAGTTATTCTATTTTCCCGACAAGATATAAAGCCACATAAAGCATTCCCAAAGGATACAGAAAAAAATAACTCTCCCTTATAATCTCCATATACTTTTTGTTTTGCTTCTTGGTAATACTAATCAACCTTTCTAAAGAGAGTCACCTCTTCCTTTCTAGCCACCATCAGTTCACCTCCCATTTTTCTTCTCTATAGGTGTTCCCATGCTCACATTTCCCAGTCTGGTCTACATTTGCACAAAGTTTTATACCCAGTAGAACTACTAAAAATGATCAAATGAACAGATTTCTTTCCTACTTTTGTTTGTAATTAAGAACTCAAAACAAATGCAATTAACAAAAAAAGACATTCAGAGTAAAGTCAGGGATAAGCAAAATGCTTATGAATAAATTTAAATTGCCCTGATAAATTCATGGATTATCTCACTGACAAAAATATGCAAAGTCCTCAGCATCTTCTGAATTCAATTTTAAGGTTCATTTATGAAAAAAAGGTCTTATTTGCATATATCACATGGGACTCCTCAGGGTGTCTGACCCTTTAAAGTTAGCCACAGAATTTTTAAGATAAAAGACAGTTCACATGATACCAAATCTGACCATACCCACCCTACCTTCTCAGAGGAACACCCCTTCTGAGGTAGCTATAATGTTTTGAGACAAATCTCAGGTATAATTATTTGTTTCTTATTTTGAGCTGAAATCTACTGTCCCATAACTTCCAGTAAGTTGGTCTTCATTCTTCCTTCTGCCAAGACCACATTTAATCTTTCTGGCATGAGATAAACTTTTTAATATATGAAATGAGTATCAGCCCACATATTCATTTTTAGACTTCAGTAGGTTTTCACCAGATTCTTTAACTGTTCCTCATAGGACAAATTTGGATTCTCCTAAAAATTTCACGTTTCTTTGGCCATATTCCAAATCCTAAAAACATGATTTGAGTGAATGAATGAATAAATTAAAATCATCTATACTGAATTGAAAAGCAATGACTTCAAAGAAAAATCATTAAACAAAATGAATTAATTAAGCAATGCCTTTATTGATTAACTTTTAAAAATCGTCTTTCAAATTGAAAAGTGTTTGAAAAGTTAGTTTCATTAATGTCTTCATGTAATTCTGTGTATACTTAAAAAGGTCCTAATCAATTAAATTTTAAATGGATTAGTTTTGGTAAAAGGCTACATCTTTTGCTTGTCTTCTACATCAATCAGGCACTATGCAAGGTACTTTGCATATTACTGCCCTTAATCCTCAGGATAAACTTAAAAATAATTATTTTTAAGCCCATTTTGCAGATGGAAAATTTGAGGCTCAGAATTATTAGAAACATTCAAATATTCAAAGTTCAGTGATTTTAAATTTTTTTTGACAACAAACTACATTTTACATTGTGACCCAATTTTACACACTATACACACACAAACACAGATATGTATTTCTATCTCTCTATACATCATTATATAACTGAAACAAAAAGGATTCTTGAAATGAAATAATAGGATATGTTTTATCATTTCTTAGTCTTACTTTTTAAAATTATATTTTATGTATCCCACCAAGATATTCTGAAACACAATTTACAAAACATGGACTGACCAGATTGCTCTATTCAGAGCTTTTTGATTTCAAATGCCAAGTTCCTTTGCAACTTCTTTATCTGACATATTTTAATGCTAGGTCAAAAACTGCAAAATTCTTACAAAATTTTATTATGTGGAAACTACCAAAATTATGCCAGTAGAAATGACAACAGAGTAGGCAGGACTCAGAATATATACAACAATTATTTATTGAATGCACATTAAATAAGCTCCCAGACAGATTTTTATACATAGAGAAATGAGTAGGTTATAGTTTCAGACCTCAAGGTGATTAGTACCTTGTGGGGGTAGAAGACAGACTTGTAACCAACTAAGAGCAAAAGGAATGGACATGAAATTAATAATATGTTGGTACAAAAGAATACATTTTGTAATGGGGATTATTTTTAAAATAAGAAGCAAGCCAGTAAATGTACTTTTAATGTGTCTAAAATGTTCATCACTGATGCTGCAACAAAAATCCTCCTCTTAAATTTCAGGTTACTAATATACAACTTATAAATATCTACTTTTGGAAATTTACTACGTGAAAATGGATAAACAAATTATCATTTTCTGTTTTTTTTTCCTACTAAAAATGAGGATAAAGTAGGCCACATGATGAAATAGACCTTTCCTGTCTCAGGCCATTTAAAAAATCCTTGGCTTCACTTAATGCTCACTTAAATAACCATCTTACCTACAAGAAAATCACTAGTGTGATAGCCATGTATTTCAAGATTACCAGCAACAGATTCTGCTGCAGTTAAACCAGAAGATGGATGTTGTTTGAGATAAGCAGAACATATAATCTTAACCTCTTTCTTAAAATATTGGGTCATAAAAATTTTCTTGTTTCTAGGGGGAAATCTGTTCTGCAAAAAGAAAAAGATAAATCGATGTTTGCAGGTATAAATTCATCTTCACTGCAGGTATTAACTGTTGTAATTTTAGTTAAGAGAACATTGTGCTTCTTTCAGAATGCCAGTTATAAAAGGGCCATTTTCTGACATCCAAGATTCCATAAGCACTTAAGTGATGAGAGTGATCTGGGATTCTCACTAGGAAATTGTATGCAATTATATTAATCAGTGCCAACATTCCTAGTTATTCTTTGAACTTGCAAAAGCCTGGAAAACAAAGAAGAGGAGCAAACATAAAGATGGGTAGAGAAAGAAGGAAAACAAACAAAACAATGCAAGTCTGGGTTGATTTTAACTGATTCTGTCTTAGGTACCGATTTATATGGTGGGAACTGGGCTATGATTATAGACTAGCTACCATTCCACAATTTTTATCACTGGCAAATTATCTAAAAATAAAAATATTTTCAAGGTAAAGCCACAATTAAACTTGCTTTTGAATCCCAGCTTCTTTCCACACCTGGGTCCATCTGTTAGAATCTTTGAATTTCTAAGGATCTGTTATCAGAAAAAAATGGAGCTTGCAGTCTTGCTGTGCTTTCTGTGCCTTCCTCAGAGTGCCCAGTTAACAGGCTGTTGAGATGGGTGTACCTGGAGTGGCTTTGTCTCTTACTACAGCAATGAATGTTTTCTGATTGCTTTTTCTTATTGAGAAAGACTTTTATAAATCCAGTTTTTCTATATTTCAAATAAGTAAGGATCATTTTTAGAGCATCACTATACAAATTACCAGATAATTTCCTCTTATGTTAAAGTCCCTAGGAGGCAATGTGGGCTATGCTTCACGCAGGGGTATTTTTTATGGGTATATTTTTCTACCGTTAATCAATGTATTGATGCCTTGTCCAAATAAAGCAGACAATTACCAAATAAGCATATTCCAGGTAAGCAACTACTTAAATCCATTAAATTCTTACCCTACACCATCAATCACCATTTTGAAACCTTACTTTATCAGGGCTTTACTATAAAGATCCGTTAAGATGCAGAGGAAAATTAATTTAAAATTACATTAATTCACATATTCTGCCTTTCAAACTTCTGTCATGTCTAAGGATTCAATTAGTCTATCAGTCAAAAAGTATTAGTGTTTTGCATTCATACATGTCACTAAAAATTTAATGTATTTTTTCAAAAGTTATGTCATTGGCCAATATCATGCAGAGAGATGAAGAAATTTAAATTATAGCATTAACCTTTAAAGAACTTAAAAGTTCAGTTAGAGGAACTAGAAAAAAAGCAGAGTAAAATATTTAAAAATAATGTTTAACTCAGTACTGAATCACAAAATATAGAATATGGAGTAGAGGGAATGGTTCCTGCTCCCCATTTGAGACACTAAATACAACAAGGAAGGATCTATTCACCAGAATTTTATTGACCACCTGCTGCATGTCAGGACCATTTTAGGTGATGGATTTCTTCACGCAGCCACCAACTTCTGGTGCTAAACTGGTGTTGAGAGCTGCAGCTCCCAGGCATATCTGAGGATTTATCACCGCCTAGAAGATAAGTCTTCCAAAGTCCCTTTCTGATGACTCAGCTTATCAACCTAGAGTAAGCATATGGCCGATTCTTAGGCTAAACTTCAAGGTGAAGCTTGTGGTCTGTTTCTGCCTTGACCCACAGTGGCACTGTGTTCAACTCGCTACTATTAGGGGCTTAATCCTGGAGTACAGTTTGACAATTGTACTAGTTCATATTGTGTGGCTATAAAGGAATACCTGTGGCTGGGTAATTTTTAAAGTAAAGAAGTTTATTTGGCTCATGGTTCTGCTTACTGTACAAGAAGCATGACACCAGCATCTGCTTCTGGTGAGAGCCTCGGGAAGCTTTCACTTATGGTGGAAGACAAAGAGGGAGCAGACATGTCATATGGTGAGAGAGGCAGCAAGAGAGCCATGGGGGAGGTCATAGATTCTTTTTAACAAGCAGATCTTGCATAGGGGACTCAGTACTGCGGGGAGCACACTGAGCCATTCACAAGGCATCTGCCCCCATGACCCAAACACCTCCCACTAGGCCCCATCTCCAACATTGTGAATCACATTTCAACATGAGATTTGGAGAGGAAAAATATCTAAACCTTATCAGCAATTGTAAACAAATACTTCTCTTATAAAGTTAATGAAAAGGATTTGGGGCTTACACAATAGGCGAACAACCAGCGAAATAGTCACAAGGAATTGACTACCAACAATGAGTCGATTGGATGAAGCATTTGTCACATACTTTAATTCCAGGGAATAACAGAACAGGAATTCTCAAAGACAATGAGATACCAACCAGAGAGCAGTTATAGAAATGCTTGGGCATTTATAAAACCGAGAATGGAACCTAAAATTACTACCAAAAATCCAGTAAGTGCTAAGATTTTCTGAAGTAGTCATAATCTTATTAATAATTGTACCTTTAGTCTAACGATCATAAGTTTAGTGCTAGTATCTTTAGAGCTAGTAAAATAAAGGAATATGGTTGCCTTAGTGCTTTATGTGAAGGACAGCATCTGATTAATAAATATAGATAACATACATGAATAAATGGACAAAGTATCACATGTTATTAATAAGCCAACGTAGAAAAAAAGTGGCATTTTTTAACCTTGACTTAGCTATATAAAAAAAGGTAAAAGTAAATCATATATGGACAGTAAGAATATTTTAAATATTTAGAATATTTTCAATAATTAGAATAAATATGCTATGGGTTGACAATTTAATCAATATTTGCATGTATAAATGTACATGTAAGCTATCTACAAATAAACCATTAAAATGCTTTTAATCTGGCAAAGTTGCCAGTGGTTCCACTCCAAGGGCAATATACCAAGTGTCTGCAGTGCCATCTCATCCCAGTTTGCCTGGGACTGTCCTGGTTTTAAAACTGATATTCTTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAACGGATCACGAGGTCAGAAGATGGAGACCATCCTGGCTAAAATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGGTAGTCCGGAGGCTGAGGCAGGAGAATGGCTCGAACCCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTCGGCGACAGAGGGAGACTCTGTCTAAAAACAAACAAACAAACAAACAAACACCTGATATTCTTGTATCCCAGTATCCCTACATTCCTGGGGCAAACCAGAATGGCTGGTCACCATACTAGTGTTAGAAGCGGATTTTTAATTTTGTGCTCATGAGCATGTTGTGCACTTCTAAACAAGCTGAAAATAGGCCTGAATGATCAATGATCAGTATATGTCTAAGTGTTGAAAGTAGAATGTCCTATTCTCTTTATATAGGAGATATTACCTTATTTAAACTCATTTATAAGATATTTCTGGACTGGAAAGTTAAGTATCTTAAAAATGATAAGAAACTCACATTAAAAATACTAAAATGATTTAATTAAATAATCCTACAAATTTTTTCAAGAAGATTCATACTACAGCTGAAATTGATCAAACTGCTTTAATTTTCAAGTCTCCTTAGAAATGGTACATGTTTATGCAACAAAAAAAAGTGAGTACAAACTGACATCAGAAAATGAGAGCATGGGATACTCAAAATAAATATTTAAGTTATCTATGAACTTGGGTTATCCTGGAAAAGCATAGATGAAACAACATTTTACCATTTTTATACTAATAGGTAAGGATAGTGATAGACTGAATTTAAGTCTGAAAGCAAATCCTAGGTTTTGAGTTTTTTAAGAGAATATTTGAACAAAGGAATAGAAACTTCAGAAGAAACACAAATAATGATGTTAGTTTCACATTTATTTCAAGTTTTCATGGAGCTATTGAAGGTCAAGACGCAATGAACAGAATGTAAGGTAGGACTGCAAAAAGGGGTGAGGTAAAAGACAAGCAGGTTTTTGATAAAGAAATGTGCTTACGAACAGGACAAGATGCCTAGAAAAAGGTTTGCTGAGTGACTGGTTGAGGAGGGGAAGAAACATGGAGGGCTAGTGATTCTATGATAGGAACTGTAAAGAGTCCAGAAACTGGGGGGCAAGCAGAGGAAGATATTACCAGATTGTTATGTTGCCATGGAAGCAGAAGCCTGAGCAGGCACTAAAGAAAAAGATCCGCCACTAACATCCAGTGTACAAAATAATGTGAAGGAAAGTAAAATGGCAAAGTGAGAACTTTACAATTGCCTCTGAAAGGTAAATAAAACAAGGGTATATCTGACAGAATTAAGGGAAAGGAGCACAAAGAAGTTGATGACATCAATTGGACATCAGAAGCAGATACAAGGCATCTTTTGTTACCTGTTGAACCAACCAGTTCTTCAATTCACTCTTTAATAACTTTACTTCTGGTGCATCTCATCAAGAGTTCAGAATTAAATGATATTAAGAAAAATTATATATGTAAGAGCCAATGCTACAGGCCTCATTCTATCAGAAATGACTGCATAACGTTAAAGCAACAGATGGGTAGTTAGAATAAAACAGAAACAATGATATTCTCTGTTCACACATTGCTAACTGCCATCACTTGTACTCCAAAACAATAATTGACAGAAAACAATTTCATTGATATTCCATAGCCATATGAGTTTATGTCTCCATATGGCAAGGCCTCCACTGTCAAAGCCTCACTGCATAATGACTCCGAAGTATCTGGTTTGCAAATGTCTTCATTAATACAGGAAACAGTGCTTGCTCTTTTTCAGTAAGTATTCAATAACAAATCTGTTTAAGTTGTATAAAAAATACAAAAATCTTCCCACAGTATCTACTCTCAGTGATTCAGGTTAAATTATTATTATTTTTTTATTATTATACTTTAAGTTCTGGGATACATGTTTAGAACGTGAAGGTTTGTTACACAGGTATACGCATGCTATGGTGGTTTGCTGCACCCATCAACCTGTCATCTACATTAGGTATTTATCCTAATGCTATCCCTCCCCTAGCCCTCCACCCCCGACAGGCTCCAGTGTATGATGTTCCCCTCCCTGTGTCTACATGTTCTCATTGTTCATCTCCCACTTATGAGTGAGAACATGAGGTGCTTGGTTTTCTGTTCCTGTGATAGTTTGCTAAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAGAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTATATGTTTGCCACATTTTCTTCGTCCAGTCTATCATTGATGGGCATTTGGGTTGGTTCCAAGTTTTTGCCATTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTATCTTTATACTAGAATAATTTATAATTCTTTGGGTATATACCCAGTAATGGGATTACTAGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAAGAATCGCCACACTGTCTTCCACAATAGTTGAACTAACTTACACTCCCACCAACAGTGTAAATGCATTCCTATTTCTCCACATCCTCTCCAGCATCTGTGGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGCATGAGATGGTAACTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGTGATGATGCGCTTTTTTTCATGTTTGTTGGCTGCATAAACACCTTCTTTTAATAAGCGTCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTGCAGGTTACATTATTTTTTAAAAAAATAAGGAAAAACTCCAAAGTAAGACTACTGAGAATATGCTTTTAAATTCTTTCTACTTTTGAAAAAATTATAAACATATTTTAGGTTGTGGCAATTGTGGAAGTTTCAAATTTCCACTCCACTATAACTTTCCATGGTTTTATGAAGGTCTAAAACATGTGGCAGCCAACAAAATAGATGTGTTAACATCTTACATCAAGTTCTGAGAATAAGTTCTTGATTCAGCATCCTTTAGTCGAGCCACCATGGAGAATGGGAGAAGGTGACTGGTCATATTAAATGCATTACATTCATTCATAGTTGGCCAAATGATTATAGTACATAGCTAATGTAAATCTGCTATATCTTTGATAGTGATGAAAAAGCCACTGACTATTTCAGTCTCCCAAAATACAAATGAATAATCTAGTGCACACTTTTGAGAGAACTATAGAGATTCCTGGATGCCATATTTAACATCTCATCAATGACAAGCTTTATTTCTCTCATAGAAGCATTTTTCTATATTATATTTGACTGCATTTTATTAACTTTTCTTATACTCTAAAAAGCACAGGCATTCAAAAGCTCTCAACGAGGAGACCATGTCTTCATTTTGAGGGTGACATACTGACCCAGACAAATCCAGCCAGCTAAGTAGAAATGAAAATTCAATTCCAAATAGAAAATACTGAGAAATAATTTTTGCAACAATACTTAAATGATTATAGAAGCAACTAGATAGAGCGAAACATTCAAGCCCCAGTTCTGATTCTGCCATTCATTTATTTTTCTACTCTCTTCTTTCTTGAATGAACAAAGCTACTTCTTTTAACTTATTAGTGTTGTGTCTCCTAGTTCACCTCAAACATTCTGTATCTTCTTATTCTCTCTCCATGTGAATGAAAATGTCTTAACAGAAACCAACCTAATTGAAAGATTACCAAAACCCTATGGACAGCTAGAGCAGATGGGGTTGTTTTATTTTACAAATATTCTAAGTCACCTCTTTTTCCTGACAGACTAACCTTTGCTACTGATACAGGCCATTCCCAAAGCTATCTTGTTTTTAAGTCACAAGTACAAATTGAGAGTATGCTGAGACATAAGTCCAATTCGTGGTATGCCATTCATTTTCTCATTCAAAAAATAGACACTGAGAGTTATACAATGCATCTGGCACTGCTTCCGGAATTAGAAAAATAGTGGTACACAAGAATGACACACTAGTCATCTTCTTGAAGCTTATTTCCAATGAAAGTTTCAAACAACATTTAAAATAATATAATGTGCTATCACTTGCCAAGTGAGTCATTTATTCTAAGCATGTTATATATGTTAATTCACTTTACAACAAAAAACCTGTAAGAATTAAACAACATCTCCACTGTAAAGATTAGGACACTGAGGAACACAGAGGTTGTGTCTTGTCAAGGTCACAGAGCTAGTCAGTGGCTGCATCCAGGACTCACGGAACTAGAATCTATGTGTTAAATCACTCTATCATATTACCTCTCATTAACAGCAAATAAATAAATATATCATTTCAGGGACAGATATCTTCTATGAATAAGGATAAAGCACTGTTCAGGAACATGGGGCAATGGAACGGGGATATAGTAGTTTAGACAACAGGGTCAGGGAAGGTTTCTGTGAGGAAGAGATATTTGAGGAAGAACCTGGATGATGAAAAAGGAGAACTTTTGAGAAAATCTGGGTAAAGCACATTTCAGGAAGAAAGAGCAAAGACTTAAAGCAGGAAGAAACTAAGAGTGTTCAAGGACGAACGACAAAGAGAATGGTTAGGGTGGCTGAAAGAGTAATCTAGAAGGGCTAGATTACGTAAGGCTTTGTAGTTCTAAATAAGGGGTTTGAATTTCATTCTAAGTGTTATGGCTTTTAGGGGTTTTTAAGCAAAGGAAAGACATTTGATTTTTTTTTAAGCTTTTTTTTGTTTTGTTTTGTTTTGTTTTCTGGTTGTATTGTTAAAAATAGAAGGGCTAAGAATTAGGCTCCTGAGAGGTTCATATCTCAGGCTCAGCAGAGGAGGAGGAGCCTACAAAGAAGCCCAAGAAAGATAAACCAATGAGGTGAGAGGGAAATAAAGAAAATCATGCCTGGAAGGCCAAATTAATAAAATGTTTCATGAAGAACAGGGGGGTCACCCTGTCAAATCTGGCTGGGAGTTTAGGATGAGGTCTGAGAATTGATGGATTTGGCAAGGAGGAGGTTGTTGGTAACTTCGACAAGAGTGACTCTGTGAGGATGGTGAAGAAAGAAAACCTGGTTAGAAGGGGGTTGAGGAGCCAATTGGATTGGAGGAGGTGGGAGAGCAACTAACAACTCTCTCAGGAGAGAATTCTTTCAGGGAAGCAGAGAAACATCATAACAATAGAGGTAGGGGCCATGAGAGAACACCTTTTACTATGAAGGTAGTTCGGTATGGTTATATGTTGATAGGACATATATGGGTAGTTCAGTATGGGTTATACGTTATATGTCCAGTGGGAGGGAGAGTCTGAAAAAGCAAGAGAGAACAAAGAGTAATTCATACAGCACAGTTCTTGTCTATGAGGGAGGAACTGGGCTCTCGGCAGGAGCAGGAAGAGTTCATTACTTGTAATAGGAAGGAAGACAGCGCACGTGGGTGTAAATGCAGGTACACTGCAAGACTGACGGTGTGAAGACCAGACTGTTCTGCTCTATTTTCTCAGTGAAATAAGAATAAAAGAAGTGAAGGGAAGTAGGGAGTGATAGAGGATTGAGGAGGAAGGAGAAAGTATGAAACAAACAAGTAAATCAAGTAGGAAAAGGTAGTTGAATTTCAGGCCAGTCCCGAGGGCCCGCTTGAGATTCTACTCTAAAACATTTAAATGAAAAGAGCTTTGCTGATAGAAGCAGCACTGGACCAGATAAGATAATTTTGGTTCTAATACCAGTTTTGCCACTTCCTGGACATACACCCTTGGGCAAGGCACCAAACCTTTCTGGACCTCAGTTTGCTCATCAAGTAAAGTGATAACGTGTGGGTCTGCTCCACTCGGAAACACCCAGAAATGTGTGGGGCACTTTGGGATGTCCTGGCAAATATCAGCATTCAGTACTGCAGGTCTGGGGTACTCAATGTCCTTTAGTGTACGGAAGGGTCTTGCAAGACAAATAACTGTCCCTCCCCCATCTCCAGCAGCACATACTCCTGTTGAGAAACACAGAGGCAGAGGATCACTCCAAGAGTCCTCTCAACTCCAAGACTGATTGTAATCTTAATTGTCCATATCATGGAAGCTAGCTCTTACACTGATGGATAAACCATACATCCATTTAACTCAATACTATCAATCCTCACTCTTGCCTCCTAGACTGATTACAGGCTGCTAGCCAGGCAAAATGAACAGAAGTTGAGTTTGCCCTTGTTATTTCCTCAGGCCTTAGAGGTACTAATGAGCAGCAAAACAGTTTATAGATTATAGCCAAGAAAAGAAACAGGCAGCACAAGGTGATACAGGAAAAAAAAATGCCCTCCATTATGATGAAAACCATTGTCATTAACTATCATAGCAATTAAACATAAATGCTGTCAGCGATAACACTCAATAGTAGCAAAGAAAGTTTGGTACCTAGGTTTCGCCTGCATGGAATTAGGTAGCATCTCACTACCATAAAACGAGAAAAATTAATTTTAATGGTATTGACCACAAGGACCCCAACATGAACTGAAAATTAGTTGACAAGGACAGGGCAATTATCAAAGGCAATATATCAAATTCCACTCAGATGATCAGTGGGGTGCTGTAGGCATTGCTGCTAGTGACCTTTCTAGTTGACACCTTCATTAATGATGTGTAAGATGAAGACCAGCATGTAAACATATTCCAGAATGATTCCACTACGGGGGTCATACCAACTGCAAGCTTCCAACATCCCAGAATTACTTAAATATAAATGAATACAGAGGTCCCTGGGAAGATTTAAAATTTAAGGTAGGTGATTGTATAGTGAGATAATACAGACAGATGGGTAAAAGCCTAGGTGAAAATCTCTAATAGCATGGTGATTCCTGAATGAAAAAAAAAAAATCAGTAATTACACAGATCTCAAATAGTTTTTTCACTGACATTTATTGAATAAAATGCTGGCCAGATATTATAAACACTACTGTTTCATCTATAAAATGTAAACAAATACAGAAAACATATACAATTAACCACTGTGCTTTTTTTGACTTAAAAAATAAAAAAAAATTATGGTACAATTTTTTTAATTGAGGTTAAATTTATATAACATAAAATCAACCATTTAAAAGTGAATGATTCAGCGGCAGTTAACACATTCACAACGTTTTGCAACCACTATTTCCATCTAGTTCCAAAACATTTTCATCACTCCAAAGGGAAACCCTATACACCTTATGCAATTGCTCCACATTCCCCGTTCCTCCTTGCCCCTGGCAACCAACAGTCTGTGTTTTGTCTCTGTAGATTTAGGTACTCTGGGTATTTTATTTAAGCCGAGCCATACAACACATGACCTTCTGTGTTTGGCTTCTTCAATTAATATAATGTCTTCAAGACTTATCCATATTGTAGCATGTATCAGTACTTTACTCCTTTTGATGGCTGAAGCCAACATGCTTTTAAACTGCAATGTTAACTTTAAAGTATGACAAGGACATTCATGCCAGTTCTGAGTGAAAACAATAAGTAAAACCCAGTAGAAATCCAGCAAAACCTCAACTATCCTGATTAATAAAACTCTTTAAAAAAGAAGAGCAGTAAAAAGCTTATTTTATTAATTTTACTACTGGGAAGGCTTTATGAAATGAAAAATGTTACTGTTAGCCTTTTCTTTACTTTTAAGTGACATTTAGATATTCACTAATGAGATATAGTAAATATTTATTAATTATTGATGAGCTGGAAGGTTTGGGGTTCCCTGGCATGCTAGCTACCAGGGAAGGTGCTCAGTAAGTGTTTAATGAATTGCGATAAGCATAAAGAAGACTGTAGGGGTATTTTTTGGCGTGTGTTTGCTTCTCTCCAATTGGGGCTAATGTTGTATGGCTGACATGAGCAGAGGTAGTTGTTTCTGTTCTAGTGTTAATTTCATTGATTCCCAGAGTTATCACCAACCTGTTTCTAAACTGATACCCTCATCCACCCCAGGGCTTGTGGAACTGGTTGCTTTTGCATAACATTTCCTGAGTAGGCTATAGAAAAAAGTCAGAGAAGATTTTCCTTCTTCCTTTTAAAATTTGTATCTCCAATGTAACTTCTTTCCCTCTCTCATGGTTCATTATCAGAAAGACTCTGTAGGATTTTTATTCTGTCTAGTACAGAATTTCTACATTTTTATTCACTGTCCGAGACACAGTAAAGTAGTTTTTTCAGTAGAATATTGGTGGTAACAGTGACTTTTCATCCTGTAATTTTAACCCAAAGTTTTCTAATTATTCAGTTTATATGCTCATGATTTAATTGAACAAATACTTTCTTATTATGAAAATTGGAATGGTGAACTCCTCTGAAGAACCTCAGTCTATTCAACTGAAGTGGGTTAGTGATCTAACTTGATTTCCTAATGATACCTTGGGGGAGGGGAAAAAAGGTCCTTTTTATATCACAAGAGTTTTTAGAGAGAATACTAAGAAGCTGAGAGTCCTTTTACAATGTATAAATTTTTCTCCAAGGAGATATTATTTTGTTCTTTCTTGTGTTTTAGATAGTTGGGCAAAAGGCACCATGCAAAATAACTGAAATTTAACCCTTTGCATGTGTGTATCTTTTCATAAATGTGTATTTTTAAAACTGCAGTTATATTACTTACTCAGTTCAAGTGAGATGGCAATTAATTCCTGCAGAAATTAATAGTTTCACAAACAGCTTCTAGAATATATTTAGCTTCTTACTAAAATGCTTCAGATTGGGTTATTGCTTCTATGAAAATGTGTTAATTAGCTGTAATAACTATAAATTGCAGATAAACTATTTATATTCTTTAATGTAATTGCAGTCATATATAAAACCAAATTGCATTCACATAAAAATAAATTGGGAGGGGGCAAATCAACTATTTGGAACATAGTTTGTTACAGAGGGTTCAGAACAAGAAGCGCATATATTCAACTGGGCAGGATATTACAAACACAGAGAAATCAAACCAGATACAGTGCTGAGACACAAAATAACACATGCTCTCTGTAAAATTTGATGAATCTATAAAATTGGATGGAACAATGACCCAAACTACTGAGTCTTCCGAATTTCAGGCCAGTGTTGGTTATGATGGTACTTTGCCACAAAACAGAGATAAGAGACATTTATAGTGTAGCAAGTGGAAGAACAGAGACATTTATGAAGGTAGAAGATTCATGACATATAGAAAGAACAAAAGAGGCCAGCAAACAAAGAGGCATGTCATTTTTTCCCAAGATAAACTTGCTGGAAGCCCACAGCGTCCACCATTCCAGCACAACACCATGAGGCACACAAGTCAGTCTCCAGAGACTTTTATACCAAATACTGCAGCAACAAACACTGGCATAACTGGATTACATGTTTATTTCATAACTGGATTTTGACTACTGGGAAGCGATTTCTGCAAAGGAAGCGAAAAGCTCCACATTGCTGGGAAATAAAGCTTTGGTAAAATGACAATTGCATATTTGCACAATATCCTTCATAGTTTGGCTACTCAATGTCCTCATCCAGACACACCCTGCTGACCTTTATCAGTGATTGTGTATTAACTTCTTAATTCTGATCTATGTTGCTCAAAGAGTGATGAAATAGTCTATTTCCTCCCTAAATATACGACAATGTAAAAGAAATAAGGCAACCTCAATAAGAAAATAGGCAAAATACTGGAACAAGCAACAAAAACACATATGTGGGAAATGGGTAAGAAATGTGAAATAATGTTCAATCATATCAGAAATAAAAATCATCACATGGGTGATGAGATACCATTTTTAGCATCACGTCGGCAAAGCCTTTGGAAAGTGCAATTTGAGTAGAAGGGGAGAAAACAAATGAAGATGGTGGGGAATAGATAGGAGAGGAGAAAGTAATGACAGCAAACGTAGAAAATGCTTTCAAATTGTTTTGCTTCAGAGCTGAAGGGGAATAGAAGGGTAAAGGGAAAACGTTGGCTAGTTTTTAGATGAGAGATACTTAAGCAAGTTGAAATGCCAAAAAGAAGCCACTTGTAAAAGGAAACAGGCTAGAGATAGGGGAGACAGTAATGGTGCCAGGGTAATCAGCCTCGGAGAGGAGGAGATACAAACCAAGCACAGGTGGAGGGAACCAGCCTCAGGCGGAGCAATTACCTTAACCTTTCCAAGCCTAATGTCTTACCTTTAAGCTAAGAAAAACAATACTGATCACTTAGAACACATTATGCAAGTAGCATCTGGCATACAGAAGTTTATTTATTTTAATGTTAATGTTTTAAAACAAAATGTCCTTGGTTCCTACCAATGGCTTTTACACAAATGTCATGTATGTTCAAAAGCAAATTCCTTGGCAGGGACAAGGTCATGCTGCTCCACTGTACTACAAAACGCCAGTTCATGTCAAATAAAGTATTTATAAGGAATTAATAGTTTGGCAAACAGTCAGCAAGTATTTATTGGAAGGAGCGCAGATGTGTTCCTTATTTGGGGTCACACGGATGTGAGTTTGAATCTCTGGCCCTACCAGTTTCTCACTCAGTGTTTTTCATTGTTGTATGTTTGATACTTAGAAAAGTGGCTGGCTTAATAAATATTTGTTGAAGGGGTAAATGATTAAAGCGCTCTTAACTTCTTGGTAACTTTGGCTCCAGGATCTGAAAATAAAACTAATAGTAATGATAACCCAGGTGTGTTACAGGAATGGAAAGAATACATTGAAGCAGTAAATCAGTGTCTGGCACTTAGTTGGATCAGTAAGGTAATTATCATTCTTTAGCAGTCATAGTAAAAAGAAGTAATTGTTTGAAGATTAAGAAAAAGTTTAAATAAATCATAACTCTATTATTTTAAAAACCTAAAACACACTATTAAGGTGACCAGTTTAAAATATTTTTTACTTGGAGATACCTTCCCAGAATTTGTGCTGAAGTGACATAATAGATATTGATGTGTTATTTCCCCAGTTTGAGTGCTTTGAAGGTGCCAACTATAGTGATCTAATGTGCTATAGAAATTACTACTGAAGTACAAGCATAATGGAACCGTTGCCATAGAAATGGTATTTTGCTACCCCACTCTCCTCATTTAGATGTGCTTCCTTCATATAAGGAGAAAAACAAAAAACAAGAACAGAAATAAAACACTGAGGGTACTTTCTATTTCTGATTTAAGTATTTTTTTCCTTTTAAAATAACAGGCCTAATAAAAAACAAAAATCAATAATCAGAGCCAGAATATTCACCCCTACCTCAAAGTTAAGTTTCTAATATGATATAAAATTGCTAAAAATCCTCTTACCCCAAAACCTATAGCTGTTTTAAGTTATATAAAATTTAACAAACAGTAAAGTTTTCTAAAAATGTAGAAACGGAAAAGAGGGACAGAATAATCCCTATGTATGTCAGATTATCTATAAACACAAATACATCACATGTCCAAGTTGTGTCTTTTTTATATTCTTTACATTGAACAATGATATAATACTTAATATGGAGCAATGTCTTTATTTTCACAGTTAATTTCTATCTAGACATTTGTAGTGGATTGAATAGTGTCCCTTCCAAAACAAAAATACGGTCAAGTCTTAACCCCGATAACTGTGGATGGGACCCTATTTGGAAATGGGGTTTCTGCAAATGTAATTAAATTTTAAATCTTAGGATGAGATAATTCTGGATTTAGGGTGGGCCCTAAATCTGGGGACTGGTGCTATTATAAGAGAAAGGAGACAGTGATTTGGGACACAGAGACACAACGGAGAAGGCCATGTGAGGATAGAAGCAGAGATTAGAGCAATGGAGCCCCAAGTCAAGGAACACCAAGGATTCCTGAGAGTTAGAAGCTGGGAGAGAGGCAAGGAACAGATTCTGCCTCAGAGCCTCCAAAACAACACAACCCTACCAACAGTTGCTTCTAAGATAGCTTGTTATCAAAAATTACATTTTAAGACAATTATTTTCATATTTATATTTTAATAAAACATTTAAAGCAATTATTTCATACAAAAATAAACTGCATTTTTTTATATACTAGCAGTGAACCCTTGGAAATTAAATGTAAACATTTCCAATATCATAAAAAAACCGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGAGTATCAGGAGGTTAGGAGCTCGAGACCATCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAATACAAAAAATTAGCCAGGCATAGTGGTGCATGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTAGGAGGCGGAGATTGCAGTGAGCCCAGATCGAGCCACTGCATGCCAGCCTGGCGACACAGCAAGACTTCGTCCCCTCCCCCTACAAAAAATAAACACCCCACAAGGTTCTTAAGAATGAGTTTGACAAAATATGTGGGAGACCTGAAGGTAGAAAACTACACAACATTGATAAGAAAAATTAAAGAATATTAAACTGAAAAACCCAATATTGCTATAATGTCAATCTCCCATAATTTGATGTATAGAATTAAAATAATCTCAATGAAAACCCAGCAGGACTTTTTGGTTTTGAAAAAATCCACAGTCTGATATCATAATTTATACAAAAAACAAAGGGCCAGACCATTCGTCTAAGCAAATTAACACAGGAACAGAAAAACAAATACCACATGCCCTCACTTAGAAGTGGGAGCTAAACACTGGATACTCATGGACACAAAGAAGCCAAAGACAGAAAATGAGGACTACTAGAGAGGAGAGAGGGAGGAGAGAAAGGGTTGAAAAACTGACCACCCGGCACTAGGCTCAGTACCTGGGCAATGGGATCATTCATAACCCAAACCTCAGCATCATGCAGTACACCCAGGTAATATACCTGCACATGTACCCCCTGAATCTAAAATAAAAGTTGAAATTTTAAAAAAGTCCAGAAATAGCTAAAACAATTTAGAAAAAGTAAAACAAAATGGAAGTCTCATAATACCTGATTTCAAGACTTATTACAAAGCTACAGTAATAAAGATAATTTGATATTATCATAAAGATAGCCATATACATCCATAGAACACAATAGAGTCCGGAAAGAGACCCATACATATAGGGTCAATTGATTTGCAATAAAGATGTCAAAATAATTTAATGCGGAAAGATTAGTTTTCAATAAATTGTGCTAGAACAACAGAGAATCCATAAGCAAAAAACAAAAGAACTTGGGCTGTTACCTTGCACCATCCAAAATAATTAACTCAAAACAGATCATAGACCTAAATGTTATTCATTACAAATTGATTTCATTCACTGGGGCAGGGAATACAGATGCAAATTGTGTCGGTGAGAGGAATATAATGTGTTTGATCATGGATATATTGAATCTAGTGTGAACTTATTCTTAACTTTTTGGCTTTTGAAGTCTTGTTTCTCCCTGTATCAAATGGGAGTGGATAGGTATTTTGTGTATTGCTTTTCTGTTCAGCAGATTGTATTTAGCTCACTTTTGGATTACTGTACATGTGTTATATAGTCCCAATTAATTTATATGTTATGACAACATGTAGATTTATTTTTCTTGCAACAATAAAGATGTTCAGGGGAAATATATAACAATATATAGATGCTACTAAAACTAGAGAACTCAAAATTCCTAAGGAAGATGGGAGCTGTGAATAGTTGTCTAGGAATGCCTGTGCATCTTTAAGCAAAGATGCTATCTCATATTTATAACTATATAGCATGGAAGTATCTTGTATAAAATAACTATCATTAGGATATTTTCTCTTATTTTTAATGAATCATACATATAATAAGTTATTTTTATTTTCTATTTTTTTCTAGTTGATCCTGATTTTCTAAAATCATTTTTATTAATCCATGAATCTTGTAAAGCATATGGTGCTACACCAAGCCGATACATGACCTTTTTACATGTGTATTCTGCCATTAGTAGTAGCAAGAAAAAGGAATTATTAAAAAGACAAAGTCATTTGCAGGTATAGTATTGGTAATCTTGAATTATTTTATCTATATATAGGAAACAAGAGTTTTGTAAATCACAATGCTATGTTGCGGGTGGCATATATCTGGTATTAATAAATGTACTGTATTAAAAGCCTTGGAAAACAGTCTCACTTTCCTACCTATATTGCCCTGTAGGTTTTAGTGATGATTTGTATTTTTTTTAAAATTCAGTGGTTATTTCTTTTCTTCGCTGGTTGGCATTTATGGATTTTTGATAGCTTATGGTACTCTCTTTAAGAGTCTCTTTCACATGAAAACATTTTTAGAAATTAAGAAAACTCTGTTATTCAGCATAAGATGATACAGTGGACTTTGGGGACTTGGGGGTAAGAGTAGGGTGGGGAGGGATAAAAGGCAACAAATATGGTGCAGTGTATACTGCCCTGGTGATGGGTGCACCAGTATCTCACAATTCACCACTAAAGAACTTATGTAAGCAAATACCACCTGTACCCAATAACTAATGGCAAAATAAAATAAAATAATAATAAAGAAAAAAGAAAACCCTGTTATTAACTGAAACATAATATCCAAGATTATATTTTATAATAACCTTTAAAATTAAGATTATATTTTATAAAGTAATGTTTTCATCCATGTCACCTCACTTAGTACATTCTGAACAGTTTTCTTTCCGTATTTCTTTAACTATAAAGCTTTAACTTAAATGTGACATTAGAATGTCAGCCTCTGAAGTTGTTAGAGAACATTTCCTCTCTAAAGTTTTAGTTTCCCTTTGTTAGGGTAGTAAAGTAGGCTCCATCTTAATTGACATAATTATCTTAATCATTTCTAATGATTCACTTTCATTTATATTAAGGTACTAACTATACGGGCTTTGGGGAGGGTTAATTTCCTGATTTAGTTCTCTATGGTACTTTGGATAAATCACTTTAACTTACTGTTTTGCAGCTTAATTGGGTCAATGGTAGTTGTATGTGAGTGTATTAGATAAAATTCATATGGAAAAAACTTAGCTTAATACCTGTACTTTATGATGGGTGCTCAATAGTTATTAATTACATTCCTTTTTTGCCATTACTCTTTCCCCAAATCTTCTGATTTGTTAGGTGACAAAAACATGATAGAAGGTAAAGAATTTTTTTCATGTACATCCCTGGGTTCATTATTCTGCTGTTTGCACAGTAGGATGGGGTACCATAATGGCCAGGCCAGGGTGAAATGTCTACTCAAAATGCAGGTAAGGCAAGTGAATGACAGCCCACCAGAACCATATGTGAGAAAGTCTCTTACAAGAAAAATGAATATTAGACAGACAAAACCAAGTCATGTCTACTATAAAAAACAGTGACTCTTGAGTCCTTTTTCCCAATCAGTGAGACTAAAATTAGAAAAGGTTTAGTGAGTTACCCCTTGCTTGCTATTTTCTCTCCCATCTAATGTAATGGTAAAAAGTGTTTTTTATTAAGTTCAGTGTTTAAACTATCAAATATGTATTTATCTGTTTAGCTTTTCTATGATGCTTTTTTTTAAGTCTTATGGATTTATTTTAAAATGTTATATATAATGATAATTTTATTGATATTTATGGGGTACATGTGATATTTTGATTCATACAAGAATGTGTAATGATCAAAGGGTGATTAGTGATGTTGAACATTTTTTCATATACCGTTGGCCATTTGTGTGTCTTTTAAAAAAAAAAAATCTATTCAGATCCTTTGCCTGCTTTTTAATGGAATTCTTTGTTGTTGTTGTTCAGTTGTTTGAATTTCTTGTATAATCTACATATTAAGCCTCTTGTCAGATGAACAGTTTGCAAATATTTTCTCCCATTTAACAGGTTGTTTATTCACTCTGTTAATTGTTTCCTTTGCTGTGAAGAAGCTTTTTACTTTAATATAGTCTCATTTTTCTATTTTCATTTTTGTTGCCTATGCTTTTGAGGTCTTAACCATAAAATATTTGCCTAAACCAATGTCCTGGAGCATTTCCTCAATGTTTTATTCTAGAAGTTTTATAGTTCCAGGTCTTTTGTTTAAGTCTTTAATTCATTTTGAGTTGATTTTTTGTATATGATGACAGAAGGAGGTCTAGTTTCATTCTTTTGCATGTGGATATCCAATTTTCCCACCACCATTTAATGAAGAGGGTGTCCTTTTCCCAATATATACTTTGCTGAAAATCAGTGGACTATAAATACATGAATTTATTTCTGGGTTCTTTATTCTGTTCCATTGGTCTGTGTGTCTGTTTTATACAAATACTGTGCCGTTTTGGTTACTGTAGCTTTGTAGTATATTTTGGAGTCAGGTAGTGTGATGCCTCTAGCTTTGTTCTTTTTGCTCAGGATTGCTTTGGCTATTCAGGCTCTTTTGTGGTTTCAAACAAATTTTTGGATTTTTAAAAAAATTTCTGTGAAGAATGTAATTAGTATTTTCACAGATATTACATTGAATCTGTAGATTGCTCTGAGTAGTATGGCCATTTTAACAATACTAGTACTTCTTCTTCTTTTTTTTTTTTTTTTGAGTAGGAGTCTTGCTCTGTTGCCCAGGCTGGCATGTAATAGTGCGGTCTTGGCTCACTGCAGCCTCCAACTCCTGGGTTCAAGAGATTCTTATGCCTCAGCCTCCCGAGTAGCTGCGATACAGGCAGGTGCCACCATGCCTGGCTAATTTTTTATTTTCAGTAGAGATGGGGTTTCATCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAAGTGATCCACCCATCTCAGCCTCCCAAAGTGCTGGGATTAGAGGTGTGAGCCACTGCACCCAGCCACAACAATGCTAATACTTTTGATCCATGAGCATGAGATGTCTTTCCCTTTTTTTTTTTTTTTCCTATCTTTTTCAATTTCTTTCATTGGTATGCTGTGGTTTGCCTTGTAGAGGTCTTTCCTCTCCTTGGTTCACTTTATTCCTAGGTGTTATTTATTTTTTTGTAGCTGCTGTAAATAGGATTGCCTTCTTAATTTCTTTTTCGGTGAGTTCATTATTGATGTATAGAAACATTGCTGATTTTTCTGTGTTGATTTTGTATCCTGCAGCTTTACCGAATTTGCTTATTACTTCTAAGAGTTTTTTGGTGGAGTCTTTAGGTTTTTCTAGATATAAAATCATGCCCAGCTATAAAGAGGGACAATTTGACTTCCTCTTTTCCAATTTGGATGTCTTTTGTTTCTTTCTCTTGCCCGATTGATGTGGCTTGGACTTCTGGTACTATGTTGAATAGGAGTGGTGAAAGTGGGCATCCTTGTCTTGTTCAGTTCTTAGAAAAGGCTTCCAGCTGTTCCCCATTCAGTGTGATGTGGGCAGAGGGTTTGTCATTTTTGGACTTTATTATGTTGAGGTATGTTCCTCCAATGCCTAATTTTTTGAGAGTTCTTGCCTTGAAGTATGTTGAATTTTATCAGATGTGTTTTCTGTGTCTATTTTGATGATTATCTGGTTTTTGTCCTTTGTTCTGTTGATGTGATATATTATGTTAGCTGATTTGCACATGTGGAACCATTCTCTGCGATGCTTTAAAATTTGTTTTTCTTTAAAACCTCTGTGGGATCTTTAACTACATCTTAATGAGTATCATGTGAAATAAATTGTTATAATTAGCAATAAGAAAAAACCTAAGTCTACTTGCTACTGTTTTGTATATACACACTTAACATGTTTGCTTGATTCTTTTCTATAGGGCTTTATTTACTGTGTGTGTAAAATTCCTTTTTTAAAATATTGCCGATCAATATTTTATTGATGTAGGCTGGTGTATCTAAACTAAATGAAGCTAAAGCTCTTGTGGATGAACTGAACAGAAAAGCTGGAGAACAAAGTGTGTTACTTAAAACGAAGCAAGATGAAGCAGATGCTGCCCTTCAAATGATCACAGTGTCAATGCAGGTAATGTTTAGAGTGACCACAAAAATGAAAACAATATGGAGAGCATTTATGCCTGATAGTCAGTGAAAAATAACATTTTCACTTAGGTGGATTTAAAAAATATTGCTTATTCATACTGAGTCAGACTGATATTATGTCCTTAAGCTTTTGTGGAAGGGCATGGTATTTTCCTATATTGTTTAGACTGATCACTCGGTGCACTCAGTTGACCATGTGCAACTTATGTAAACTCTTTTTATATTTTAAATTGGCATGGATCTGTCTGTAACTGATTTTATTTCTTATACTCTGCCATTTAGGTTGGTATTTCCTTTTATTTTTCTTAGAATTCTCTCCTTCAGGCTTTGAGAGTTTTCCTTGCTTTTAATTTTCTCAAGATTTATGAAATGTTTTTATTCTTTCAGTACTTTCATGATGTTTTGTATTTTGATTATACATTTTTTGAGTGGTTGCCTTTGTTTTGTTGAACCCTTTCAAGGGAGATTTCTCTGAGTTCCTTCTTTGCCCCAGTATTTTATGTCTGCATGCTCTTTCAGGATGATCTTGTTCATTATATTGCTCTTACTACCAGCTACATATAACTGTTTTCAAATTCATCTTTTTTATTCTTTATCCTAACTCCTCTTATTAGCTTCAGACTTGCTCAATTACTGGCAGGGCATGGTCACTCATGCTGTAATCCTAGCTCTTTGGGAAGCCGAGTGGGAAGATTGCTTGAGCCCATGAGTTTAAGGACCAGCCTGGGCAATATAGTGAGACCTTATCTCTACAAAAAAAGTAAAAATTAGTTGAGTGTGGTGGCACGTGCCTATAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGGATTGCTTGAGTTTGAGAGGCAGAGGTTGCACAACGAGCTGAAATCATGCCACTGCTCTCCAGCCTGAGTGACAGAGCAAGACTCTCAAAAAAAAAAAATTCAATTTTATCTGTTAAACATGTCTTCTTGGAAGTCTCTCGGGCATTACAATTTGAAACAGGTTCAAAACTGAACTTATGAGTTTTCTTTCCTGTATTTCTTTCCTCAGATTATGGTACTATAATATACACTAATTATTTAAGACAGAACTTATAAATTATATTATACTGAGACTTTTGTTACCTTATCCCTTAATGTAATGAGTCATTAAATTCTGTCAATTTTATTTCCCTGACTATGCCTCAAATATGTTTCCCCATCTCCCTCTTGGTAACTGTTACCTTGTCAACTAGGCACTAATCTAATGCCTCTTTTATGAAAATTAACTTTAATATTCATCAGACTAATGTATATATCTCAATTAAAAAGTAAGTGGCATGAAAAATCAACAAAGTTATGGGAGTTAGGATTTCTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGGGACTTAGGATTTCAAGAGTCACTTTTCAGTAATCATAAGGCAATCTGATATTACTGTAATATTAGGCATAGAGATCACTGGAATGTGGTCGGTTGATTTTACACAAAAATGCCAAATAAATGGGGAAAGATAGTCTTTTTGAAAAATGGTGCTGGATATTTAGATATCCAGGTAGAGAGAGAAAAAGCCCAGAACCTTTACCTTTTAACTTACACAAAAATTTACACAGTGTGGATGATGGATCTTAGTGTAGAACATGAAATTATAAAACTTAGAAGAAAACACAGGAGAACATCTTTATGACCTTGGTGAGGCAAAGACTTGTTTGATGTGATATCAAAATAGAAAAAGAAAATTGATAAATTGAATTTCATCAAAATGAAAACTTCTGCTCTTTGAAATAAATTCCGAAATGAAAAGGCAAGTCACAGACTGGGAGAAAATATTTACAAAACATATATTTGATAAAGAACTTCTATTCAGAATTTTAAAAATACTGCAACTCAATAATAGCAAAACAAAAATCCAGTTTAACATGAACAAAAGATTTGAGCAGGCCATTTATGAAAGAAGACATATAAAGGGACAGTAAACACATGAAAATATGCTTAATTTCATGATCATCAAGTAAGTGTGAGCTAAAGTCCCAGTGATATGCTGCTACATATCCACTAGAATGGGTAAAATAAAAAGACTGAAAACACCTCAGTCTAGTATGGCAAGGCCGTGTGGAGCATCTGGAACTCTTATAATTGCTGGAGGAAATGAATAATGCTACAGTTACTTTTCAAAAGTTTGACACAGTCTCATAAAGTTAAACATATCTTAGTACATCAGCCAGCAGTCCCACTTTCAGATTTTTAGCTGAGAGAAATGAAAACGTGATAAATCTTAGAAGCATTACACTTAAGCGAAAACAGCCAGACACGAAAGACTGTATACTGTATGATTCCTTTGTAAGAAATTATAGAAACAGCCAAACTATGATAGAAATCAAATTAGTGAGTACCTGACCTGGTAAGTAATACATCAGAAAATGTAAATATAATTTTTATACTGGAAAACTTTAACATATTTTTTTCTCAAGGTATTTTGGAACAAAATTAATATAAATATTTACTTAATGAAGACAGCCATTTTTATTGTTAAAAAATCTGTCAATTATTTTGACCTTAAAAGAGTTGTTTGAAATATCAAAAAGTAAACACTATGTAAAGGATAACACTGTTGATTACCATGTGTTTATAAAGGAAAATATTTGGTGTTTTGATTACCATGTGTTTATAAAGGAAAATATTCGGCATTATGTGTGCTTTGTGTACTCTCTGGCTAGTGACATTAGTAATACACATTGAGTATCTGCTACTTTTTTCTCTGCGCTGTTCTGAGAAGCGATATTTCTAAGACTGTAGCTAATTTTATTATCCAGCAAAGACCCAGGAGAATAACTGTGCATCTCATAAGTTAATAATTTTGCTTAATTATAAATAGCAGATATTTCTGTTTGGTATTTTGTAGAAAGCACTGTCTGAAGAGATAGCTTAAATACCAAGTTGTGTAACTTCTAAGGCTTGCAATTCTAGGTTAATGGCATAAAGAAAGTGCAAATTAAATGCTATACAAACTCAGAATAGAGATACCTTCCAATTGGAACAGGAGGTTAATAAAAGAAGGAATCCATGAGCTGTGCCTGGGCTGTTTAAGTGTTTAATATGTTTTATTATGATTGTTTAAGAAATTATGCATTTCAGGATCTGGGCATGGCAATACATGCCTTTAATGTCGGCTATTTGGGAAGCTGAAGTTGGGGGGACCCCTTGAGTCTGGGAGCCTAATTAACATAGTGAGACCCTGTCTCAAAAAGAAAAAAAGGAAAAAAAAACTCAGAATGACAAATATATACAAAGATGTTCAACCTCATCAATAATCAAGGAAATACAAATTAAAATCATACCTTGAAAATTGTGTATTTCTGCTGGGCGCAGTGGCTCACGCCAGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAACTATAAAAATTAGCTGGGCATGGTGGTGGGCACCTGTAATCCCAGCTACTTGTGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGAAGTGAGCTGAGACTGTGCTCTTACACTCCAGCCTGGGCGACAAGAGCAAGACTCCATCTCAAAAAAAATTAAAAAGGAGAAAATTACGTTTTTCTATCTTGTTTAAATTTTATATAAAAAGCATTTATTGCTTTGCTAAGTAGAAAAAAATTAAAGCACTGAAACCTTTCTGATAGAAAATATGGAGTAAAATATATCATTGGTTTCCCAGGCATTTTGGAAACTCTCTTGTCATAGATTCAAAACTAGTATTAGGAAACATTTAATAGAAAATGTTATTTTGAAATGTTATATTTTGGATTTCATGCTTTTAAATATCAAGCATTAAAATTGATTGGAATGCCACTTAAATATTCTTATAGGATGCTAGTGAGCAAAAAACAGAACTTGAAAGACTGAAGCACAGAATAGCAGAAGAAGTTGTTAAAATTGAAGAAAGAAAAAATAAAATTGATGATGAATTAAAAGAAGTACAAGTAAGTTAAAAAACATTCTAAGATCCATTTACATTTTTGCTTACCAGTTATATGTAGGAATTTAAACATTATTTGTAACTCAAGTTGTTTTCTCATAGTATTATAAAATGTGGTTTTCAACCAAAATGTTACTTGTAAAAGAGAACAAGAAGGAAAGCCTTCCAGGAAAAGTATAAATTAATGGATGATAATTAAAAATAATCTTTGTTTTCCAAGAGCCATATGGTTTTGATTGCAGAGGGAAAAAATGTGTTAGATAAATTAAGATATACTGTTAAGCTCTTTTTCTCCAGTTGATTAAATTAGTCAGCTAGTCCTAGGATATAAAGAGCCTCTTGAAAATGACAAATTGTCTCAAAACAAGTTAGATTTTCCAAATTAGGTTATTGCAGTTGTGGTGGCAAGACGTCTTACTGTCTCAAGTTGAACATTTTTTACACCTTGTATGATTGAAAGCATTTTGATATTTTAAGAGAGAGAACATTAGTAACTATAGTCATTTTGCATAAATGACAATAAAACATAATTTTTCAAGAGTTAATGATTTAAAGAAATATATAATTTGAAGATAAAAATGGCCTTTTTCTCTTTTAGCCTTTAGTCAATGAAGCTAAACTAGCAGTTGGAAACATTAAGCCCGAATCACTTTCAGAAATTCGCTCACTACGCATGCCACCTGATGTAATTAGAGATATTCTTGAAGGAGTTTTAAGGTTGATGGGTATCTTTGATACATCTTGGGTGAGCATGAAAAGGTACATTTTTCAATTTGTGAAAAATATTATTTCGGCAATGAATGACACATTCTTTCGTAGTTTTAAATATTTCTTATATTGTTTTTCAAAATGCACTTCATCTAAATACATGGGTGTACATTTTGGCTTGAAATTTCAAGGTATTCTATGTAATCATATATCAAGATCTATATATTCCTTTCTGTATAAGTGATTGTTAAAAGTGTCAAAAGAGGAGAAAAGGAATACCTTAGAATGTTTAAGAAATTTCTCAATAAATATAATAATATATTTGGTCCATACATAGTATAGAGGACTGTGATTTCACCATGATTTACTGTTGAAGAAAATATAGTCACTATCCTTAAGAGTCTTGTACTACCGAGAGAGGGAAAAAGACAGAGACAGAAACAGAAAGAGGGAGACCCTTAAATAATAAAAGGGAGCTGCAAACTAGAAGAGAATAAGGTATTAACAAAATATGAAACCATGCAGGTTCAGGTTTCATGTTATAATAGTTGTGTTATGGTTTGTGCCGATATTAAGTTCCTTGTCAGTATTTAGGTTGATAGTAAAGAGTTCCTTTTATATCTGGAGATGGAGGAGGACATAGGTTGACAGAGCACTTTAAGTTACCTTAAAAGGAGTCAGACAATTTTCTTGCATATCCTAGAACATATGAGTACCTAATAGTTCACAAATAAGGATTTGAGTAGAACAAGATTGTGATTCTTTCATATCATTTCTTGTTCTAGTTTATTCACAGAACATTAGAAAGACTGTCCTACATCTCTCTAGAGTTTTTGTTGTCTACGAAAAGTCGATAATACAGCTGGGCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCACTTTAGGCCAGGAGTTTGAGACCAGCCTGGGCCACATGGTTAAACCCCATCTCTACCAAAAATACAAAAATTAGCCTGGTGTAGTGGCACGCACCTGTGGTCCCAGCTACTTGGGAGGCTGAGCTGGGAGGATCGCTTGAGCCCAGGAGGTGGAGATTGCAGTGAGCTGAGATTGTACCACAGCACTCCTGCCTGGGTGACAGAGCGAGACTCTGTCTCAAATCAAACAAACAAAAATAAGGATAATACATTAGAAGCTTAAAGGTTTTAATACCATATTTTTGTTAACTAATGGATTAAAAGTATTGCATACACCATTTTGTTAAACTGATTTTTTTTCAGAAACAGCAAATTTTATTTAGCCTCATTTAAGGAAATATGCTTTAATTTTAGTTTCCTTGCAAAAAGAGGTGTAAGAGAAGACATAGCAACCTTTGATGCCCGAAATATTTCAAAGGAAATAAGAGAGAGTGTTGAAGAACTTCTTTTTAAAAATAAAGGCTCTTTTGATCCAAAGGTAATTTTTAAGTTATACTATAAATTTGTTTTTCCATACCATATAATATTCTGCTTTTTAAAATGTGGTGCTTTGTCATTGCCAACTGTTTAGATCACCTAAAAATGAAAATAAAAAATAAGCTTATAGGAATTACACTTGGGAAGCATTAACCATCAGAATCAGGTAAATTAGAATCTAGGTAGCAGGGGAGATTTATTATCTTGAGTGGTTTTAATAGTTTTGTATCTGCTGTTAATGTTCTCAGCTTTTTTTTTAAGCTTTCAACTGTCCTGGTATGCTTTTATTTTTTCTTGTGTACTTGTCAGATAACAACAGGTATCTGTTTTAGGACAGTGGTATCTAATTTCAGTGAACAATTTAGATTTCATGATTCTGGTATTTTTTTAGATCCCTTAATCAAAATGTTATGTACATCTTCTTTAACACCAACTACAATAGTTTTAAAGCTGCTCTTATCTAATAAAGATAAATCACATGTATAGAAGAAAAAGAATTGATGCTCAAACATTGTTGTGGATGACACATGTATTCATTAGAAATGTGACTAATAGAAAATTATGTTGATAAAACATCTTTAATTTAAAGATTCTGTGTGGTTCAAAAAATTTATTTTTAAGTGAAAATAGAGTTCATGTATATTTCTTTTAATCAAAATAGAAGTTCACTGTATTTTTATTTTAGCTATAAGCCAAAAAACTACTTTATTTGGGTCAAGTTAATAAGTGCCCAAATAAAGTGTGTTAGAATTAACTTTGCTTTCATTTGAAATTAAGTAAGGATGTTGAATCACTTCTCATGGATTTTTCAGAATGCTAAGCGTGCCAGTACTGCAGCTGCACCTTTGGCTGCCTGGGTGAAAGCCAATATTCAGTATTCCCATGTCTTGGAACGAATTCATCCTTTGGAAACTGAACAGGCAGGATTAGAATCGTAAGTGAAATATAAAATATAAACAATTCTAACCTTTATTTTCATCAGTTTGATGAGGTTTTAATAATTATTATTTTTATTTTTTCTCTATTTGTAAAATGGCAGTTGACAATACTAAAATATATGAATGAGTCAATTAAAGACAAATTTAAAAACAGATCAAAAAAAGAAAGCAATTAGAAGGAGAGAGAAGAACCAACTCACTTTTTCTTTACCATTATTATATTGTTGGAAGGCTAGGTAAAAGTTCCTTTAGAAGGAGCCAAAGTTTCATAAAGGAATTTTTTTTGTTGTTGTCGTTTTTTGTTTTTTGTTTTTGAGACACAGTTTCGCTCTTGTTGCCCAGGCTGGATTGCAGTGGTGTGATCTCGGCTCACCAAAACCTCCACCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGTTAATTTTGTTATTTTTAGTAGAGACTAAAATAACATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGACCACCACGCCTGGCCAAGGAATAATGTTAAAGTACGAAAGGAAAGCTTTGGAAATTTAAGACTTTTATGTTTATTTATTGATTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTTACTTCAACCTCCGCCTCCCGGGTTCAAGTGATTCCCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTCTGTATTTTAGTAGAGAAGGGGTTTCACCATGTTGGCGAAGATGATCTCGATCTCCTGACCTAGTGATCCGCCCACCTCCGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACCGTGCCTTGCTGGAAATTTAAGGCTTTTGTATTTGTTTTTACCTTCTAAGTTCTAGGAAATGCTTAGCATGTATTTTCCAAAACAGTGTGTGGGCAGGTAGGAGGAAGATTTAACCACTTACTATTAGAGCTGTGGTTCTAATTTGCTATCGTTACTAAGTCAGAAATATATTTTATCTCTTTTGTTCTAAATGCAGACCCAAAGGTTTATGTTCTTTTAAAAAAAAAAATTTCAATAGGTTTTTGGGGAACAAGTGGTGTTTGGTTACATGAATGAAATCTTTAGTGGTGATTTCAGAGATTTTGGTGCAGCCATCATCTGAGCAGTGTTACACTATACCCAATGTGTAGTCTTTTATCTCTTGCCACCCCCTGCCCTTTCCCGAGTCTCCAAAGTCCAATGCCTCATTCTTACGCCTTTGCGTCCTTATAGCTTAGCTCCTACGTGAGTGAGAACGTACAATGTTTGGTTTTCCATTCCTGAGATACTTTACTTAGAATATTAGTCTCCAATTCCATCCAGATTGTTGCAAATGCCATTATTTTGTTTCTTTTTGTGGCTGAGCAGTATTCCGTGGGGTATATATATACCACATTCTCTTTATCCACTGGCTGAATGATGGGCATTGGGTTGGTTCCATATTTTTGCCATTGCAATTTGTGCTGCTACAAACATGCGTGTGCAAGTGTCTTTTCCATATAATGCCTTCTTTTCCTCTGGGTAGATACCTAGTAGTAGAATTACTGGATCAAAGAGTAGATCTACTTTTAGTTCTTTAAGGAATCTCCACACTGTTTTCCACAGTGGTTGTACTGGTTTACATTCCTACCAAAAGTGTAAAAGTGTTCCCTTTTCACTGCATCCCTGCCAACATCTATACTTTTTTAATTTTTTTATTATGGCCATTCTTGCAAGAGTGAGGTGGTACTGGATTGTGGTTTTGATTTGCATTTCTCTGATAATTAATGATGTTGAGCATTTTTCCATATGCTTGTTGGCCATTTGTGTATCTTCTTTTGAGAATTGTCTATTCATGTTCTTAGCCCACTTTTTGATGGAGTCGTTTGTTTTTTTCTTGCTGAATTGTAAGAGTTTGTTGTAGATTCTGGATATTAGTCCTTTGTTGGATGTATAGATTGTGAAGATTTTCTCCTACTCTGTGGGTTGTCTGTTAACTCCGCTGATTATTTCTTTTGCTATGCAGAAGGATTTTAGTTTAATTAAGTCCCGTCTGTTTATCTTTGTATTTGTTGCATTTGCTTTTGGGTTCTTGGTCATGAAGTCTTTACCTAAGCCAATGTCTATAAGGGTATTTCTGATGTTATCTTCTAGAATGGTTATGGTTTCAGGTCTTAGATTTAAGTCTATGATCCATCTTGAGTTAATTTTTGTATAGGGTGAGAGACGAGGATCCAGTTTCATTCTTCTACGTGGGGCTTTCCGATTACCCCAGCACCATTGGTTGAATAGGGCATCCTTTCCCTACTCTATGTTTTTGTTTACTTTGTGAAAGATCAGTTGGCTGTAAGTATTTGGGTTTATTTCTGGATTTTCTCTTCTGTTCCATTGGTCTATGTGCCTATTTTTATACCAGTGCAATGCTGTTTTGGTGACTGTGGCCTTATAGTATAGTTTGAGGTTGGGTAATGTGATGCCTCCAGATTTGTTTGTTTGCTTCCTCTTGCTTTGGCTATGCAGGTTCTTTTTTGGTTCCATATGAATTTTAGGATTGTTTTTTCTACTTCTGTGAAGAATGATGGTGGTATTGTGATGGGAATCACATTGAGTTTGTAGATTGCTTTTGGCAGTATGGTCATTTTCACAATATCGATTCTGCCCATCTGTGAGCATGGGATATGTTTCCATTTGTTTGTATCATTTGTTTGTAACCATATCCTTGGTTAGGTGTATTCCTAAGTATTTTTTTTTTTTACAGCTACTGTAAAAGGAGCTGAGTTCTTGATTTGATTCTTAGTGTGGTTGCAGTTGGTGTATAGCAGAGCTACTGATTTGTGTACATGAATTTTATGTTCTGAAACTTTGCTGTATTCATTTACCAGTTCTAGGAGCTTTTTGGATGAGTCTTTAGGGGTTTCTAGGTATATAATAGTATCATCAGCAAACACTGGCAGTTTAGCTTCCGCTTTACCAATTTGGATGCCCTTTATTTCTTTCTCTTGTCTGATTGTTCTGGCTAGAACTTACAGTGCTATGTTGAATAGAAGTGGTGAAAGTGGGCATCCTTGTCTCTTGTTCCAGTTCTCATGGGGAATGCATTCCACTTTTCCCCATTCAGTATAATGTTGGCTGTGGGTTTGCCATAGATGGCTTTTATTACCTTAAGGTATGTCCCTTCTGTGCCAATTTTGCTGAAGATTTTAATCATAAAGGGACACTGGATTTTGTTAAATGCTTTTTCTGTGTCTATTGAGATGATTATGTGATATTTGTTTTTAATTCTGTTTATGTGGTGTATCACATTTATCGACTTAACGTATGTTAAACTTGCATCCCTGGTATGAAACCCAGTTGATCATGGTGGATTATCTTTTTGATATGCTATTGGATTTGGTTCACTAGTGTTTTGTGGAGGATTTTTGCATCTGTGTTCATCAGGGATATTGGTCTATAGTTTTCTTATTTTGTTATGTCCTTTCCTGGTTTTGATATTAGGGTGATACTGGCTTCATAGATTGATTTAGGGAGGATTCCCATCTTCTCTATGTTTTTGAATAGTGTCAATAGGATTGGTACCAATTCTTCTTTGAATGTCTTATAGAATTAAGCTGTGAATCCATCAAGATTTTAAAATTACCATTTCAATCCTGCTGTTTGTTATTGGTCTGTTAAGAGGTTCTATATCTTCCTGGTTTAATCTAGGCGGGTTGTATATTTCCAGAAATTTATCCATCTCCTCTGGGTTTTCTAGTTTATGTGCATAAAGGTGTTCATAGTAGCCTTGAATAATCTTTTGTATTTCTGTGGTGTCAGTTGTAACATCTCCCATTTCTTTCTAATTGAGCTAATTTGTATCTTCTCTCTTCTTTTCTTGGTTAATCTTGCAAATGGTCTGTCAATTTTATTTTTTCAAAGAATGAACTTTTTGTTTCATTTATCTTTTGTATTTTTTTTGTTTCAATTTCATTTAGTTCTGCTCTAATCTTCGTTATTTTTTTTTTCTGTTGGGTTTGGGTTTGGATTGTTCTTGTTTCTTCAGTTCCATGAGGTGTGACCTTAGATTGTCTATTTATACTCTTTCGTACTTTTTGATATAGGCATTTAATGCTATGAGCTTTCCTCTTGGCACCATCTTTGCTGTATTTTAGAGGTTTTGATAGGTTGTATTACTATTATAATTCAGTTCAAACAATTTTTCAACTTCCATTTTGATTTCATTGTTGACCCAACAATCATTCAGGAGCAGGTTATTTAATTTCCACATATTTGCATCGTTTTGAAGGTCCCTTTTGGAGTTGATTTCCAGTTTTATTCCACAGTGGTCTGAGAGAGTACTTGATATAATTTCGATTTTCTTAAATGTACTGAGACTTGTTTTGTGGCCTGTCATATGGTCTATTTTGGAGAATGTTCCATGTGCTGATGAATAGAATGTATATTCTGCTGTCATTGGCTAGAATGCTCTGTAAATATCTGTTAAGTCCATTTGTTGTAGGGTATAGTTTAAGTCCATTATTTCTTTGTTGACTTTCTGTCTTGATGACTTGTCTAGTGCTGTCAGTGGAGTATTAAAGTTTCTCACTATTATTGTGTTGATGTTTATCTCATTTCTTAGGTCTAGTAGTAATTGTTTCATAAATTTGGGACTGCCATTGTTAGGTGCATATATGTTTAGGATTGTGATATTTTCCTGTTGGACTAGTCCTTTTATCGTTATATAATGTCCCTCTTTGTCTTTTTTAATTGCTGTTGCTTTAAAGTTTGTTATGTCTGATATAAGAATAGCTACTCTTGCTTACTTTTGGTGTCCATTTGCATGGAATATGTTTTTCCACCCCTTTACCTTAAGTTTATGAGAGTCCTTATTGTGTCAGGTGAGTCTCTTTTAGACAGCAGAAACTTGGTTGGTGAATTCTTATCCATTCTGCCATTGTGTATCTTTTAAGTGGAGCATTTACGCCATTTACGTTCAGTGTTAGTATTGAGATGGGAGGTTTAGATCCATTGCTGATGAGCTGGTATAATATTTTGGGGGTGTTAAAGAACCTTGTTTTGTCATATTACCACAATTGTTTTTCTGGTTCCTTCTCATTTGGGTAGACTATGTCAGAGGGAAGATCTGGGATTCAAGTGCAGCTGATCAGATTCTTTTGTCTCATGGGGCGCTCCCTTGCTGTGATGGTCTTTCCCTTCCCCTAGGAATGGGTAGTTCTGAGATCTGAACTGTAGTGATTGTTTTTGCGCTTCTGGGTCTAGCTACCCAGCAGAGCTACTGGGCTCTGGGCTGGTGTTGGGGAGTGTCTGCACAGAGTCCTGTGATGTGATCTGTCTTCAGGTATCTTAGCTGTGGATACCAGCACCTGCTCCACTGGAGGTAGCAGGGGAATGAAGTGAACTCTGTGATGGTCATTGGTTGTGTTTTTGTTTAGTGTGCTGGTTTTGTGTTGGTTGGCCTCCAGCCAGGAGGTGGCCCTTTCAAGAGTGCATCAGCTGTGGTCCTATAGGGAGGATGCAAACTTGCCCTAGGGACACCTGGTTAACTCTTCAGGTTTCTCAGGCGGTGGGCAGGGCCTTAGAGCTTTCAAGATATTATGACCTTTGTTTTTGGCTACCAGGGTGGGTAGAGAAAGAACACCTGGTGGGGGCAGGGATAGATGTATCTGAGCTCAGCCTCTCCTTTGGTGGGGCTTGTTGTGGCTGCTGTGGGGGAGGGGGGTGTGGTTTCCAGTCCAATGTAATTATATTCCCAGGGGGATTATGGCTACCTCTGCTGAGTCATGCAGGTCACCCAGGGTAGTGGGGGAAAGCCAGCAGGCACAGGCCTCACCGGCCTCCTATGTAGTCTGCAGTCCTAAAGGCTGGTCTCACTCCCACCATGCCCCAACAGCACCAAATGTATTTCCAGGCAGCCAGTGACCAGGGCTGAGAACTTGCCCCAGACCATGAGCCTTCTGTTGAGAAAGCAAGCGGACTTAAGTTTTTTGGTATCTCAGGGAGCCTGCAGTGGTGACCCAGTTCCTTCAAAGGGTCTGTGGATTCTTTTGGCTTTCCTAGTATGTTCCTGCAGTAGTTCTTGCAGCGAAAGTTCACCATGTAAGTCTCCACATGCTCCTCTGTCTGTCTGAGTGGGAGCTGCAAGCTAGTCCTGCTTGCTATCTGTCATCTTAATCCTAATTGACTTATATTCTTGATTGTTCAATTTTTGACATTATCTATTAATTTCATACTGTGTATTAAAATTTATTCATCTTATTTCCTTTCTTGTATACTTTTTGCTTCTTAATATAAGAATTGCCTCCTTTTTTTAGTTGATTATATTTTTCTGTTTACGTATCACAAATTTATCCACAGTTTCTCTGTCAGAGCCCTGAAACATCTTCATTGATCTGTGTGTTCTATTTATTTTTTCTTAGCTTTAGGCCTGCTGCTTAAGGCTGTTGTCTTGGGGCTTCTCTTCAGCATTGTTCTAGAGATTACCTATTGTATTCTTTTATTATGAATTCCTGTCTTTCTCTTCCTTCCTTTAGTTCTTCAGGTTTCTAGAACACATCTTCCATGGTAGAAAGAGTATATGGGCTGGAACATATTTTGAGATTTGCATGTCTAAAAGTGTCTATAATATATTATTGTATGTGATCAATAATTGGGTTGTGTTTAAATACTAGACTAGAAATAGTTTTAGCTCACAATTTTGAAGGCCTTATTCTATTGCAGTAATTCTCAAAATTTGGTTCCTAGACCAGCAGCATCAGCATCACTTTGGAACTTGTTAAAAGTGCAGATTTTTAAACTCCACCCAAACTAACTGATTCTGATTCAGATATATTGAGGGGGAGGGGACAGTAAGCCCTCGCAATCTCTGTTTTGACAGGTAATTTTGGTGTACACTGAAGTTTGAGAACCCCTGCTGTACTCTCCTCTAGAGTTCAGTGTTGCTTTTAAAAAGTCTAATGCTACTTTGATTCCCAGTGTTTTGTATGTTACCCCATATTTTTAGGGAGTTAGGAAGCTTTCTTGACCTGTCTGATCCTTGGTTGTTAGTTATTAATCGTGAGTTTTAGAAGTCTGACTGGAAGCCCTGAGTGTGTGGCCTGGGCTCCTTGGCTGCTGAGCATCACTGTAAGGCGATCAAATATGGACTGGCCATTTTATGGCAACCCCTTAATATTTGTGGGTATTTTGAGAGGATAAGGTGTCAGTCATTTTACTGTAAAAGAATCTTTTTATCTTTCACCTAGGATGTGTGCATAGAGGTTGATGGAGATGAGTAAGGGCATAAGCTAGACTTGCAGCATTCTGGGTTTTATTAGCGGTAGTCAGCTCTCAATAGAGGATGGATTCTGAGGTCCAACTCTTTGTAATATCAATTATTAAATAATCTTCTGTATTTAGCTTTATTGTTACCTTCATAAGTATCTGTACATTTTCTGAACATTTTAGGATTCTGCTTTTTTTGGCTCCTCTTTGTATAGGCATTTTAGCTTTTGGCTTTTTGCGTTCCGGTATGTTAGTTATTACTTTTTAAAAGTTTATTGAACTTTGAGGGTGCAGGATGCTGAGGTGGGAAGATTGCTTAAGCCTAGGAGTTTGAGGCTGCAGTGGGCTCTGATCGTACCACTGCACTCTAGCCTGAGAAACAGAGTGAGACTCTGTCTCTTAAAAAAAGAAAGTTATTTTTGAAATTTCTCCTATTTCATACTTTCCTCTTTTGATCTCTGTGCATATGTATCTTTCTTATTTTCTTGGCTTCATTTTAGTAGGGTTCTAGAAGGGATAGAAGATAAATAAATATGTTTACCATTTTTATCCAGAAATTTACACGTATGAGTGTTTTTAAATATAAATTCCTAGAAGTGGTATAGTTGGGTCAGAGGAAACACTTCTAATTTTAGCGTTGCTTTTCAAATTAAATTCTAAGTAAAGGTGTTATAATACTGAGTTACTGACAGTTTTAATTGTCATATGATTACATTTTAAGGTGCTGCTGCTGCTTTATAGTTGATATCTAAAATAGAATGACTTGTATAATATTGAGTTATATTTTAGGAATCTGAAGAAAACTGAAGACAGAAAAAGGAAACTAGAGGAGCTTCTTAATTCTGTTGGTCAAAAGGTATCAGAACTCAAAGAAAAGTAAGTTATATTTTGAAGTGTATTTTGGATAATGCTGAGAGTGTTTACATTTGACATCTTGATTTCTTTCTTGTTTTGACTTTTAAGATTTAGACTCTTATGTCAGATGATGCTGTGGGACCCAGTAGTCTATAATCTTTTTAAGGGTACATTATTATGTTTAAAAATTCTATCCTTTTAACTTTTTTCTCTTTTGTGTTAAAAAAATTTCTTCATGCAAATGTTATACTCAAGTTAAGGATCATTTTTGAATATTAGTTTTAAAGCCTTTCATGTATCCCATTTAGTACAGGGTAGAAAATATTGGTATGGGAATTATAAATGTTAGAACATTTTCTTTTAAAAGTTGTGAAGATTGAAAAGCTGAATAATATCTGATTTAATACAGTGTATGTTGAAGTGATGTATCATACTTCCTTTTTTAATGGAAGCAAAACTAATTATTTTACCAAGAAATTATTCAGATTAAAACTATGAATTTTTTCTCTACGTTCAGGAAACAATTTTCTCTCTCTGTGTGTGTGTTTCTCTCTCCCCCTCTCTCTCTTCTTCAGTTTCTCTTTCTGTCTCACCAATATATACTTATAGAGAAATACTTATAGAAAAAAATCAAACCGAAAAGAAAACCCCAAACCAATAAACCCAGTGTTTTCAATATTCCTGAACAATTATGTTAGAAATATAGGAAATAATTCACATCATTTTTTCCAGGTATTATTAGAGAAGTATAAGAAAAATAAGTATAATGTATTATTTTCACTGTCATGTGCTCACAATCAGCACTTAATATTCAGCTAATTCTCAAATATTTATTGAATAATTAGCTTGTTATGGCAATGTTTTGACTTCATTTATTAGTCACTTGCTGTGTTAGGTGTTATACTGGGTAATTTATGTATTTATTTCTTTAATCCTTAAAACAATGATGAGAAGTAAATCTATTTCTATTTAGCAGATTAGGAAGGTTAAAATTATATAGTCTTTTTTGTCTGAAGTTGAGCAGCTAGTAAAATACTAAGCCATGTTAGATACTAGATTTGTCTAATTCCATAAAGTTTCTGCTCTTAACCATTGCACCATACTACCATTATTTTGGAAGGATTATTATAAGAACTTTTGGAATTAACTTTTAATTTTAAATAAAACAGAATGACATTTTTCATTATAGAGTCATTGTTGAGAATGAATTAATGTTGGTTACCATGCTGTTACTTATACTGATCCTTAATTAAGGTTTAATTGACTCTAGGCCATGAGTAACAGTCTTATTTTCTTATACATCAACAAAGAATAAAGGACTTGAAAAATAAGCATGATCTATCAATTTTTAAATTCTAATTTTACAAAATTAAAGAGATGGTTTCCATTTCTAATACAACTTATACAGAGATATGAGAGTTGATTTAATGCAACAAATATTCATTGCAAAACCATGTTCAAGGTGTAATATGAAATGTTGTGGTCAATAAAGATGCAGCTTTCCATTTCCAGGTTTTAGAACAGTGCTGTTTAATGGAACTTCATGAGATTATGGAAATGTTCTGTGCTCTGTGTTTATCCAGTATGGTAGCCAATAGTCATATGCAGTTACTGAGCACTTGCAATGTTTGTAATATGACTGAGGAATTGAATTTAAAATTTTATTTATCTTTAATAATTTAAATTTAAATAGCCGTAAAGTGGCTAGTGGTTATTTGTCCATATTGGACAAATTGGTTCTAGAGTCTTATGTCTAGGGAAAGAAGGAAGAAGGCACTTAGAAAGACAATGAAATATACTGTAAAGTACATGCAACTTAATGCCAGTCACATCTGTATATGAATTTTAGATCCTCTGCTGATTATTGATGAGAACCTGAGAAATAATTTATTTGGGTTTAAGTTTACATATGTATAGCATAAGATTTATAATACTTAACTGGAACTGTTCTGGAGAATTAAATGCTGGTTTTTTTTTTTTTGATGCTTGGCACCACCCTGGGCATATTATAAACACTTACACATATTTGTTGAATGACTAAATAATCATGTCAAATATTACTATTACATTTAATAAAATCACACACATATTTTTCAAGGAAAATAATTTAAAAAGAAAATCATAAAGATCAATGAATATAGGGAGAGATTATATATAATGTACTAAAATGAATTTTGAAATTTTATTTGTATTTTTAGTGGTAGATGTTAGAGGGGGTTGGGCTGTGGGGTGAGGAAGGGTGTGGTTGGAAGATACTCTAGGCAAATGGAACATTCTGAAGAACACTGGAGATGAAGGATAGGATATTTACTGATAATGTAAAATTCTTCCGATATTGACATATATTAATGGTTTTGCTGATCAGTAATATAATGAAATAAAACTAGAAAGACAGATGGGATGTTTAGGACAGTGCCTTGAATGCCGTATTGGCAAATTTTTATATAATGCAGTACAGCACGGAGGCCCTGTCAAGTTTTTTGAGGTAGAGAATGCTACACTTTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGTTTGTCTCTTCTATTAATGATACTTTGTATGCAAACATTAATAGTATTATCATTAAATTATGGCATAAAAGTTTACTTTATTACCTATGGATAATTTCATTAAATCTCTCCCAAATCCTTTTTGCTTTTAATTAAATTTTAATGTTTACATAGATTTCAGAGCAGGACTTCAGAAGCTGCCAAACTTGAGGCTGAAGTAAGCAAGGCACAAGAAACAATCAAAGCTGCAGAAGTCTTAATTAATCAGCTTGACAGAGAACATAAGAGATGGAATGCACAGGTTTGTTTGAGAGAGGGGCCATGAGGAGTCTACCTTTAAACTGCAGGAAATCTATAATGTAATGTATGTTAAGAAAAAGGAGAGAAAGATCCATTAATTTGCACCTGGCTCAGGATAAATAATCTGGATATAAATGGCCATTATGTGAATTACTCTTTAAACAAAGCGTCTTTATATGAATAGATTTTTAGGCAAAGCAGCCTATTTTCCTTTCAGTTCCGTATGTTATGAGAGATGAGCAGGATGAAAATGGGTGGATGGAAAACTTAGTACTCCTTAGAATTTTCTTTGAATTTACCTTCACCAGGACAGTAATTTTAGGATTTGACACTGTTGGCTATTTATTTTTTCTTGAAATATTTTATTATTTTGACTTTTTAGTGTTGTCTCTTGTTTTTTCTTGGTTTATTTCTGAAATCAGTTAAGCTTCCTTTCCTTTCCTGATCCTCCTCATCTGCTCATCCAGTAATGTTGATTGTCCTTGTTATTCTCTTCCACAGCAGCTTTTTCTGCAACTGCCTTGGGGGTTATCTCATCCCTTCATAATATCACCTACACCTTCATAATGACCAGAGCTACATTTCCAGACTACTGAGTTTTAAATGTGTATTTCCAACTATACATTAGACATTTGCATTTAATTGTCTCTGAGGAACTCAAACCCAACATGTCTAAATTATTTTCTTTTTCTTATTCCAAGTCTCCTTTATTTTCTGTTTCACTGGAGGCATCTTTCTTTGGGCATCAATACTAAAAACATGTGGGTTGTCTTAGACTCTTCCCTGTTTACTTGTCATATCAATTTGCAAATATTCTTTATATTTGTCTTCTATCTTTAATGCCAATTTCTTTTCATTTCTCATCTGACTTTTTTAATGTATCCTCCTATCTGACCCTTTAATTAGTTCACCCTTCATTTGTCAGCTGAATTATCTTTATAAAACCCAATCTGATTACATTACTCATTGCTTGCTTAAATGCTTTCAATGGCTCACGTCACAGTTTAAAATAGAAATTCCTTTGCATGTCGTGGAAAACCTTTCACAATCTGCCTTTAATTAGCTCTATCTCTCTTCTTTCCTTTAATATAACTACTCTTTCTGCTGAATCTTGTGCTTTATTTACAATAACCTTTTTGCTAATGGGTCTTCATGCTGTAGCTTTGTTTTGTCCCTTTGTTCATTCTCTGTGTCTTAATCTTAGTTTACAAAGTGGTGCAAACTCACATTTAACTGTGATTGGGATGAAAATTCTGCTTTCTTTAAAATCGTTAAGAACTTTCAATGACTAAATATGTTTGTTTCTACAAATATATTAGGATTTTATACTTTTAAAAAATATCACAGCAGAGTCTGAGATCTTTTTGATATTTTTACATTTTGACTGTTACATTCAAAACAAGTTATTACCTGTGATTTTCCCCCTCACAGTCAAAACCATAAAACTGTCATTTTCTTTAATGTTAGAACATACTCATATATCTCCCTCTTTCTTCTCTCTCTTTTTTCCAGGTTGTAGAGATAACAGAGGAATTAGCTACTCTTCCTAAAAGAGCTCAACTTGCTGCTGCATTTATTACATATCTTTCTGCTGCTCCTGAATCTCTGAGAAAAACCTGTTTGGAAGAATGGACCAAGTCAGCTGGTCTTGAGAGTTTGTATTTAGTTATTCCTGATCTTGAGAGTTTGTATTTAGTTATTCCTGAATTTAAAATTTCAATATACTAAAAATAGACCCTTTATTCTCTGTTATTTTACCTTTTTTAAATGGGGGAAATTTTATATGGGTTCCAAGGATACCCTAGCTACTTTAGATTTGCTGAATTCCACAAATGTTCTTGAATTTGCTTTATTAATATGATTTTTCTATTCTTAAATCACTGTAAAAAACTGAGATGACTGAATTATTTTTGATATTGCATAGATGCAATTAAACATTATGTTACTTTTATTTTTATAATAATTTTATTTCATAGGCTGAGATGCAAGAACTTTAAAATTCTTTGTGATGTTAGTGGTATTTTACAAAATTATTTTAGTTTGTGAAACAGTCACTCAAAGAAATAGGACTTCGTGGAGTTCCATTCCTTTGCACTTTTTGTTTTTGTTTTAGACTTTTTTCTCCGTGGGTTTGGGTGTTAAATGTGGAAGAATGGGTTTCAAGTAAGGACTGTCATAGGACTTTTGTTTCGGAATAAATAGCTTTATTTCCTTCCCTTCATCAAGTACAAGATCGTTGTGAAGTATTATCAATATCTTCAACTTTTCAGAATTTGATCTGAGGAGATTTCTTTGTACTGAAAGTGAGCAGTTAATTTGGAAAAGTGAAGGCCTACCATCAGATGACCTTTCCATAGAAAATGCTCTTGTAATATTACAGGTAGTTAATTTATTTTAATTTTTTTATTAGAAATGTTTTATTGTCAAGCTTGCTGTAGAAATTGTGTTCTTCGTATTCTTAGTCTTTCACAGTTACCCTTTTCTTACTAAAATAAAAATATTTTGCTAATGAAAACCCATCAATGATTCAGTTAGTGAGTGTAAGACTTTCTGTATAATTTATTTTTTACCTTAATATAAAAGTATAAAGTGGCATTCTTTTGATGGCAAAATATTCTAAATTGTATTTCCTAATAGTAATAGAAATATTTTAGGGATACCCAATTCATTGGTTATATAGTTTCTTCATGAGTACAGACTAGAATATATGACTTCATAAATTTTATGTTTTTATTTCATTTTATTTTGCCAAACAAAATTAGCAAAAAGTGAAGATAAGTTTTGGCTTATCAATTAGAGATAATCATACACATAATTTGGAAATTTGTTTTGTCACATAGTGCACATTTTCCAAAGCTATTTAAAATGGAAAATAGCATAACCTTATTATCAGTGAGTGTGAAAACCAAATTCAAAGCCATGTACACAAATAAATAATCACTTGAATAAAGTTTGATTTTTCCCATTAACTTGGTTTACTTTTCTTGATATGGAAATTGGAAGATGATTTTTACTTCTTGATAATGTGATTTTTCTATTCTTTCTGTCAATAGTTTATATTTCATAATAAATATTAGTATTCCTTTTCCTCTCAGTAATCCTTCTCTCTGCCTACACACTATTTCCTTATTCTTATTTTTTAACTCCATAGTCTCAAAGAAAGCATGAACATTAAACATGCTCCTCTTTATGTAGCATAAACTGTATTATAAGATTTATATTTTAGGTGCTGTTCATTACTTGATAATTTGTTCTGTTTTATTAGACCTATTAATCAGCTGACTATGCTTCAGCTCACTGTATTGGTAACTTACCGGTAGAGAAGTTGCTGACCACTAATTGAATAGTTTTGCTTTCTATTAATTTGATTTTGCCTGTTTTTAAATTTACTTTTAAAATTTTTTTTATTATTTTCACAATGGAATCACAAATATGAAACTCTAAATGCTTATGTAAATAAATGTATTACATTATAGCAAACTATATGCTTTTTATTATATTTGTTATTCCCTCCCTAAGGTTTCATAGCCACATCTTTTTCCTGTTTCAATAATCCAAGAAAGCAATTGATTGCAAATTAAAAAAAAAAGGTTTAAGAATTCTTTTTTATTCCATAAGAAACAAGGGGAGGGTGGTAAGTCTGTAGACAAAATATGTTTATCAGAATAATTTTTTTACCAATGTTAATTGAAAATGCTTAGTTTTGTATTCTGAATTGTCTTTCATGATGGATATGGGAAATTGCCTTTGAAATTAATAAGCTTAAATTTACTTTGTATTTAACATTGCTAAGTTCCTTTTAGATAATTACTTGCATTTATATGACAAAACAAAAATCATTGGAAACATTTCTTAGGGTAATTAGTTATTTCGTTGAAATGAATTTGCTGTTATGGTCGACACTCCATCTCAGTTTTAAGGTGTACTAGATTTAAAATTAGTTGTAGTTTAAGGGTGTGATTGGATAGCACGTAATCTGTAACATCAACTCATTAACATCACCATGTACGTAAAATTAAATCTGTAAATATATATTAGTTGGGCTTCTGGGAAAAGATGGCTAGACATGATAAATAATATGCATTTGTGATTCAGAGATATAATCTCCTCATTAACTATGCTAAAGCTGGCCTGGTGTAGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCAAGGCGGGTGGATCACTTGAGGTCAGAAGTTTGAGACCAGCCTGACCAACATGGTGACACCCTGTCTCTACTAGAAATATAAAAATTAGCTGGGCATTTTGTCATGCACCTGTAACTCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAAACTGGGAGGCAGAAGTTGTAGTGAGCCGAGATCACACCACCGCATACTCCAGCCTGGGTGACAGAGTGAAACTTCTCAAAACACACACACATACACACACACACACACACACACCCCAATGCTAAAGCTTTTCTGAGGTTCTCCCTCTCAGCGGAGGAGGCTTTGCTAAGAAAGGCTTTTGTGTCTAAAACTATTCTTTTATTGGTCTTACAAAGATGCTTAAAATTCTCATATTTAGGTTAAGCTAACTATTGAAGTGCATGTATTGCCGCAGAGAGTAATTAGTCAAATCCTTACATACCCTTGGTCTTACAACAGGAATTAGTTTTACTACGTTAGCAGAAAGCTCATGTGACCTATGTATTTGAGAGACAGGGAAAAATTTGGCCATAGTGATCATATGTCCTGGATTGCTTGGTCTATGGTTTGCACTTGTTGTCCTGATACAATTATTAATAGTTTTCCTTTCACTCTCAACAGTGTCCTGGTTTGGGTGATAAATTATATGATCTAATATTGGTCAACTCAGTGGATAATGGAAAGTATAATAAGGCTGTTAGAAACTATGGAGAAGGTGTGAGTGAAAAGCATCAAGAAAGGAAGTGGAGAAGATGACTAATTAAAATATCAGATTTTATATGGGTTTTTCTTGTGATGACATCTATTGAATATTTGTGTTTTATTGTTATAGACAGTTCAGTGTCAAATTGGTTTTAACCACTCAAAATTTCATAGATTTTTTTTTCTTGCTGCCTTTTGGTATATGCTGAGGAAATGCAAACTAATGTGATACTAGTCTAAGAATATAAAATTATAATGGTAAATTTACAACTTTAAAGTTAACTTCTCCACATAGGAAAAAGTTTTTCAATCCTTACATAAGTAATAACAATAATCAATACTTGCGTATTACTTACCATGTTGTGCATATATTACTGTTTAAGAATAAATAGGTAAGGCACTTAAACACATAACTCATGTAATTCTCAAATCAACCCAATCTGTTAGATTCATGTGTTATCCCTTTTATAGATAAGGACATTGAGGCACAGAAGAGTTAATTCACTTGTCTAAGGTCACATGGCTATCAAGTGGTAGAGCCAGGATTCAAACCCAGGCCACCTAGCTCCTGTCTATACACTTCTCATAGGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACCTTATTTATTTTATATTCTTGTTAATGTAACTCTCCTTAGTGAATCAAGAGTTAGGCTTTAGTTTTATTTATAAAATGTTTTTGCATTTGTCCCATTTATAAGTATTGAAAATAGACATAACATTATAGGGTGTACTAGGTGTTTTAAAAATTATCTCTTTCAAAAATATCCTTTGACCAATCTTTTTTTCCCCCAAGGAGAGAAGAATTTAAATAGAGATTATGTATCTTTAGTTTTTAACCTGTTTTTTGAACTCTTGACCTACAGTTCTAACTACCTGTTAGATATTTTTACCCATTCTTTCTAGGCAGCTCAAAATTTATCAGCCTTTAACTAAATTCACCATTTTTTAAGTCAAAAATCCTCCAGTGGCCAGTTATAGCACATTTAAGGGAAAAAACTAGCAATTTATGCTTTTAAATAGCTGAGATGTCTAAAAGGTTGGGGCAAGCTTCTGAATTAAAATAATTTTTACCAGGAGATCTCTGCCTCCATTTTATAAGATGGATTCATTCTCAGATGGGTTCTCTTTACCCTTTGTTAACCTTGTCCATTGGTGACTCCATGTTTACCATTATTAGAGTTTATGTTTCCAGACTGAAGATGTGTCATTCACTCCCTCTGCACCATAGATAATATGCCAGTCTCCCAAAAGGATTCGGATTGGTTAGCTTAGATCATCTAATCATATTGATAACCCATCAGAAATACATTTAGTGGGATATGCAGGGTAGGCAAGGTAGCTCTCTAGTATAGAACTCATTTTTCTTCCTCTCTCACTGCCTATAACCTGCTTCTCTTATTTTCTACCACCAGAGATATCACAGTCTTTTCTCAGTAATGCAAGCTACAACCCTGAACGTCATTCTTACTATGTCTCTTTACTTTTTTATTCAGTTATTCAACTAATCTTCTCAAATCTATTTCTCAAATATCTCATGAATTCATCCTGTTTTAATCACTTCCATTGCCAGTGGCTTCATTTATGCCTTCATCATTTTGTATGTGGATAAATATATCATTATACCAGCTGGTTCCTTGTCTCCAGTACCACTTCCTTTACTGTTGTTGGAGTGATTTTTCTAAAACATTAATCCGATCATAATATTGCCTCAATTAATATATTTTAGTGATTTCCCATTGTCTGCAGTATAAAAATTTCATTATCCTTAGACATGGCATAAAAAGCTGATCATGATCAGACAGACTCCAGGTTACTCCTGCCATTTTATATGCATCACCTTTTCCCATATTTATTTTTCTTTAGCTACACCGGAGTACTGTAAGTTTTCCAAATACTCCAAACCTTTTTATTCCCCTCTATATCATGCTGTTGTTTTTGCCTGAAATGTTTTTCTTTCTTCACTTCTTTGCCTAGCTGATCTCTCTTGTCTTAGTTTGACTTGAACTGTTTTCTAGCCATAACTTCACCTATCATCCTTCAGTAGCAACTTGTGCACCTCTTGATGATGAAATTTTTATTTTTGCATCTTTATTGCCTGTAAAGTTATTGAGGTTAAGGGAATGTATTTTCTTAATTTCTGTACTCCTTGTACTATCTTACTATAGTTGTTATCCAACATATAGTAGATGAAGTAACGAACAAATGAGTAAATAAATGAAAGCTCAACATTTTTGGATTGAGTATAGTTGTAGAATTTAACTATATTTAATCATGGAATACAGAGATAAAATGTACCATAGAAATCTTATCTAAATCTGTCTGGAGACGTAAAATAAGATGACAACAAACTTTTAAGTACCCTTTGAAAAACTTAAGCATGTTTTCTTTGCTAAAAACATTTTGAAATGTTACCTTTCTTCTTTTCATTTAACTGCATCAGATCATTGGTTTGAAATCATGGGTAAGAACTTTTTAAAAATTTAAAATAATTACTTTTGTAGTTAGGCAAAATGCAGAATTGTGAAATGTGTGCTATTGAATGCTAGCATAAAATTAGATCAAAAACCTAGGTGCAGCACCATGGTAACACTTCACAGGCTATTTACTAACCACATCATTGTGCTTCGAGTAGTACATTTACGTGATGGAGCAGTAAGTGAAATCTCTAGAAATAGATGCTGGGTGATGCTCATACAGTGTAACGTGGCAGGAGGTATGATGGGAGTAGTCTACTGTGGGTGCAAGTGAAAACAAGGTACCTTGTCTGTGGACCATTTTAAAATAATAATAATAAAGCTGTTTTAAAGTCGTTCTTCTCTTTAATATCACCGTGTGCTAGCAATTGTAAACAGCATTGGTGATATAAAACTATTCGTCCACAGGGCAGATAATTCCCACTATCTCCCTCCCTCTTGGTGTGCCACTGAGATAACCTGTATGTTCTTATTAGATATACAGTGTTCCCCCCTTTTCTCCTGGGCATGTGTTCCAAGACCCTCAGTGGATGCCTGAAAGTTCAGGTAGTACTGAACCCCATATTTATATATGGGGTTATACATTTTTATATAACACATACATACTATTTTATATACACATACATACTATGATATACATACATGCATATATATACATACAATGTTTTTTCTAAACATACATACTATAATAAAGTTCAATGTATAAGTTACACACAGTAAGAGATTAACAACAACAATAATAAAATAGAACAACTATAACAGTATACTGTAATAAAAGTTAAGTGAATGTAGTTTTTCTTTCTGCCTGTCAGAATATCTTATTATACTGTACTCACCTATTTTTGGACTGTGGTTGACCATGGGTAACTGAAACCATGAAAATAAATTGTTGATAAGGGGGACTGCTGTACCCCATTCTAAGTTTTCATCTTACTCTGACTTTCATATGTGTTCTCTTATTCTTATAGCACACAATTGCATTACATTTTTCAAATAAATGTGAAAACTTAAGAAAAATTAGATCAGTTTAAATTTTAGTAGGTAGCAATGATTGTTAAATGACTTTTAAATTTATCATACATATGATATACATTTTATACATTTATAATTGGCTTTCTTCTGTCTACTAAGTGCCATTGTGTGTGGAGGGCATTTTCACTGGTTTCTAACTCCCTTTTTTTTTGAGATGGAGTCTCTGTCGCCAGGCTAGAGTGCAGTGGCGTGATCTTGGCTCACTGCAGCCTCTGCCTCCAGGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAAGCGCCCGCCACCACGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGGTTTCACCATGTTGGCTGGGATGGTCTTGATCTCTTGACTTCATGATCTATCCACCTCAGCCTCCCAAAGCCACCACACCGGGCCTGACTTCCTTTTTTTTAGAATTTAATTAGTGCAGGATGTTCTATAATGAATTTAGTTTTTAGTTCATTTCATTAGATCTTAACCTACAGCCCATGTAATTTTCTCTTCCAGGATACTCCTTTAGTAATATTGGATATATACTGCTTTAGAAGAATTAATGTCTTAAAATGTGAACAATTATATTGATAATTAGCAGTGTTTTAATGATTTGCTCATACTTCTTTTTATGGCCTTTATAGTTTTTATTCAAACAAAGAATATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAATAGAGAATAATTTGACTGTGTATTATAAAAGCCAAAAAGAATGCTGCAAATGACATCAGCTTGAGACTAAAGCTCTTGCTTAGCATAATGTTAGTACAGATATTCTGTGTTATTTTGTGTTAAGTAGGACTGTACTCTCTATACTCTGGCTAAATGTAATTACCTAATATTAACTCCTGGTCACTGAAGATTTGTTAATATGGCTTGTGATGCAGCTAAAAACTGTATTTTTGTTTCTTTTTCATGGTTGTATATTTGTGTTCTCCAAAGCTTGAGAGAAAAGATCATTTAGTAATTGATTTATAATTTCTAGAAAACTATTTCCATTTAAATGAAAGCTTATAATCATTAAAAAACATTACTTTTCCTTTTTTTTATACTAGAGTCGAGTGTGCCCATTTCTTATAGATCCTTCTTCCCAAGCTACAGAGTGGTTAAAAACACATTTGAAAGACTCACGTTTAGAAGTTATCAATCAGCAGGTATGTATTATTTATAATTTACATACCAATTAGGAATGACCTCTTATAGTGAAAAGATCTTGGAGTCTATAATCAGAAAACATAGATTCAACACTGGGTCCTACTGTATGGGACCTTGGGCGAGAGATATAACTCTTAGCTTCAGTTTTCTAATTTGTAAAAAATAGATAAGAATATTTATTTGATTCTGGGTATTGATCTAAGCCCTGGGAATTTAATAGTGAGTTCCTTCCCTTATAAAGATGACAGTCTAGTAGGTTAGAGAAACAATTAAAGAAGCTTTGCACTACGTTATGACTAATGACACAAGTATAAGCTGCTGTAGAAGTAGGAGCTTTTAAGTTAGCTTGGAGAATCGGAAAAGCCTTCTAGCCTTTTAGCATATTTACAGTTTCTCTGAATGCCTCTCATAATTTCCAATTTCTTTAACTCATTGACAGACATCTTTAATGTATCCCAAGATTTGATAATTGTTCAGTGAAATATAATCATAGTCTTTTTGGTAGTGACTTCTCAGTTTCATGTTTATCTTGCAGAGGAAATTATTTTTGGTTAGGTTATTATTTTGTTAAAGGAAGACCTAATATATGATTAATTTTCATAGATAATTTTCAGGTGTTTCAAAAATTACCTCTAAAAGTTACTTTACTTGTAAAATGGGGATATCTACCTTATTTTTTGTGTGATAAGAATAATTATAAATTAAATAATATATAAAATACTTTAATAATCATTTATGGCTTGCATATATGCAAATCATTTATGGTTTGCAATATTATATATAACTATATATGCAAATCATTTATGGTTTGCAATATTATGTATGACTACATATAAGTATACTATATATCTCTATATAGTTATATACATTATAAGTACTATATATCTATGGTTATAGTTATATACATATATCACTATACTATATATCTTATATACATATAAGTATATAAATATACTATATATATCTATAGTTACAGTTATATACATATAAGTACTATATCTATATATAGTCATAGTTATAGACATATAAGTAACTATATAGTTACTTTTATATATATGTACACACACACATATATATATACACACACATACCACACATACACACACACATACACACGCCTGGGGTGATGTTTAAAACTACTCCTTCCCTATCTAGAAAGCCTTAAAATTCTTGATTATTGAATTTTGCCTAAAGGTTCTTTTCAGAATTATCAGACCTATCCACCAAGAAAATTTTACTAGAATTCATCATCTTGCCTTTTTTCCCCATTCAATGTGTGATTCTGAACATAAGCAGAGTAGGGTTCTTATTAATACTTGGGTGAGTAATTTATTACCTATAGAATCTGAAATTGTGTTTCTATAACATTTTGAAATTACTGTAGAAAATCAAAGAAAGGATGTTTGTAAATATTAAAGTAATTAAATAATTAATACGTATTCTTTTTTATTCAATTAGGATAGTAACTTTATCACAGCTCTTGAATTAGCAGTACGTTTTGGGAAAACCCTTATTATACAAGAGATGGATGGTGTAGAACCTGTTCTTTATCCATTATTGAGACGAGATCTGGTTGCTCAAGGTAAATAATTGACACTTTCCAGAGTGTAAATATTTTTAAAATTTCCAAAGTAAGTAATTAAACCAGGTGCAAGCTTTCAAGAGTCCTCTTCCAGTGGAGTCACACATGATGGGCTTACTTCCTTCAGCAATATGTGTAAAGTTGTGACAATATGTGTAAAATGTTGTTTATCAGGAAAGCTCAGTAGAGACCTAGTACCCATAGTTTACTGGGGGTTGATTACGTAAGCACACTCTCCCTAGCACATTACAAAATTCTAGACCCCCTGAAGGAAAGCAGGTGTAGCATAAACCATATTGTTTGTACAAACAGTTTAGGCACAGTGAGCCACTTTTTTGAGTTCTGAGGATGGTGAGAACTCTCCCAAAAGCTAAGTTCCCAGGTGCTGGTTATGGGCCAACTTTACAAGTAGCCCTTTCTAAAGAGTCTCAGGATTGCTATGTTAATTCTTTTCTGCATAGGAACCCAGCCCAGTCTTGGATGATTAGAAGGCTATGCCTTGAAACTTAAAGAGCATATCATGCAAAGTGTATACACATACATATGTAGACGTGTACATATACGTACGTGAATGTATGCCACATACGTTGCTAGCACAGCAAACTTTAAATAGAAAATTGATGTTATTGGGGCAACGCAGAGAAATAGCAAAGCATGCACTATTCTCTGATAACCTATTGTCCCTCACATTGATATGTTTGGCCTAGTACTGGTTGATATGTTATGAGAACTCAAGTAGTGGGGCCTTTGTAACATTATCCTCTTAATATATTTTATGGGCATGAAGGGCAGGGAATATCTAAGCTACTGTATAACAACAGAAGCTTGTAATCAAGAAAGTGACCTTGCTAGAATGGAGTTGTCTTCCAGAGCTCAGTTTCTGGTCCTTCTGTTGGGGGTAACTCAGATCTGCTGAGCTAGTTTCTTGCTATGATATCTTAAGGAGGAGGAAATGAACCTTTAGGGCCATCTCAATTTGCCATTCTTCATTCTATACTGTGGTCCTGAAGGACTCATTAAATATAAATCTCCATGAGTTCTGGTTAGTGTTAGGTTTTAATGGTATGTGTGGCATTGTCTGAGTGTAGAGTGTTGACTAGATCCCCTGAAAAGAGTGATAAATTTTATATCATGATTGGTTCACATTTTGAACTGTTCTAGGTAGTTATGCAAGCCTGTTTAGGTCAATTTGTTTATGTCAGAATTAGGAAAAGAGAGTTAACCATTGCCCCTATCTTACTTTTTCCATCTTCTCCGCAGGGTTGGATGTATTCGTGTCACACTAGTCTGTTATCCCCTTTGTGTATATTCCAGATATTGTCCTTTTCAAGAGTGATAAGTTCCTCATGAGTTGCCATTTTTTCATCATACATTAACTCTGGGGACAGAGGATGGTAGTCCTAGAATCACATAAAACAAAGTTTGTGCCAAGTTTGTTTACATCCCAGTGTCCTTAATCTAAGATATACAAATTACTTTTCTACTTACTGTGTTTAAAGCAGACATAAATATAGGAATAGAATGTACTTCTCTCCTACAAATTTATGCTCGTCAAAAATCTTATTTATTGATCGTAGAAAAGCAAGGTATACTTCTTCAAATTCTCTTTTTCTCTCTCTCTCTCCTTTTTTTTTTTTTACTTTGTTTCCTATGTGCTTAGGAGCTCAGCCAAGACAGAAGGTAGATGTGGCAGTTTGCAGTTGGTAAATAGTTGAAGACAATTGGACCAGCTAACTGTATAGAAGTTGTTGAGGGAGAGGCTAGTGTAGTTGGCTAATAGTTTTACATTTTACAAACAACAGACATCAAAAGTATCTTCTATTAAGCATTCTAATCCTTTATGGTTGTTTTATTTCCATGTTGAGTTTGAGTATGGAACCAGGAATTATACTAGAGATGACAGCTAAACATTTGTGGTTGATTCTTTTAGTCCAGATGCCTCCTTTTAGGCATGGTTCCTACAGAGACAGGCATACGTACATGCAACATAAAGGTTAAATTTGTGATTAATTGTTGTCTCTGTTTTCAAGAGGTATATCTCCATATGGATGTGTCTTTCGTAGTCCAATTGCTTCTGGGTGACCCAATGGCCCGAAGACTGGTAGATCACTGTTCTTCTATTAGGAGCAGTTTTGTCTCCCAGAGAATATTTGGCAATGTCAGGAGACATTTTTGGTTGTCACAGCTGGAGTGGAGGGCCACTATGCTAGAGACATCTTAAAATGGACAGGACAACTACCTAACAACAAATAATTTCTCAGAACAAATTGTTAATACTGCTAAGGTTGAGAAACCTTAAGCTAGTTCACTAGTTCCAACCCATGAGTCTCTGGACAGGTATATTTTAGTTGGTCTCAGAGTGGCATATTTTCTAGCCAGGAACACTACTTGAAGTGAGCTCATTGTACAGAATATCCAATGCTATAGATTGCCAGAAATTGTACCTGTGGTTAGTTGATGGGTATAGCATTGCATTGGATTTGCTTATCTGTAAGATTATTTGTAGATATCTGTAATTTGGTGTACCTGAAGGGTATAGGGACCGAAGACAAGGATTGATTTACAGTTGCCTCAATTACTTCCAAAGGTGCCTCTTGCAAGGGCTATGATTTAAACCTAGCCATGTTTGTTGACAAGATATAGGGGCTATGGTGAAATTTCCAGGTATGGAACATGCTGCTTTTTATAGGCCAAGAGGGTATTCAGATGTTGGTTATCTTTCTTTCTTTGTATTTAGTGGCTGTAACGCAAGCAGTTGGTCTATAATGGGCTGTGGGATATCTCCTTGTGAAATGTTTATTTCCTTCTTTGGGTGCCAGAGTTTTAGATTTGCCTTTAATTAAGTCCCATTCATCTTGAGTTGTGCCTGAGTGGTATGCAATACAATGTGAAAAGTTTTCCCACTGGAGACCATTATCAAAATTTTATCTACATAATGGAATGGAATTTGGACCTATATGGAGGTTCTCATGGTACTTGAATTCATCTAACTCAGTTGATAATATATTTCTGAAGTGTTTGGACCTATAAAGGTGTCCTGCATACAATAGCTGAACTGATTTTGGTCTTCTTTTGAAAAGAATATAAAAGAGAAATAATTAGTAATAATTAGCAATATCCCAGTCTGCATACTAAGTATCAGTTATGACAGCAGTTTTTATATTCATTGTTATGTCAGGTACTATGGAATCTATGGTGGCCACTGCCTGGTTTAAATTTGAATGGTCATAGTAAACCTTCAGCAGCATTGGTTTCCAAAATTCAGACAGATAAAATTGTGGAGCACCCCTGCCTGGTGTAAAAATATAGATTCCTTTGCACTTTCTGTCATAATACATTTCTTTCAGCTGTAAATATTGATAGGATTTGGGTATACCTTATAGGTTGATCTTGCCTGAATCTTTATCTGATTGTTACAGAAGTAACCAAAGATATCACAGTGAGTGCATCTAAATATATCCATGTATCCAAGCACCCCAAATGTTCATTCCGTTGTACACGTTGACTGAAAAAAACAAACAAAAAAACAAAATATCCAAGCCTTATGTTGGTTCAGAAAACAATAGCCATGTAAATTGGCACTTTCCCTGGAAAGGACCCAGAGACCAACTCTTGTACCTTGCCCAATCATGCTGTCTTTAGTTATCTAAAGTACAACACAGATTCTGTGTTCAGAGGAAAAAAGTAGTCAAAATTAACTGCATCACAGGTTAATTCCAATGTAAATTAAGAATTCATACAGTTAAGACTGTGTTGGACTCTATAGTTCTACATTTGATATTTTCTATGAATAAGAGATGAGACAACACTGAAGAGTCTTTTTTAGACAATAAAATATTTATTTTAAAATATTTTCAAAAATGTTTTATCAAAGTAGTACATGCATGGGTTGTAAAGTCAAATGATACAGAAGTGCAGCAGCATTCTGTTCCTCCCCTCCCATGACTAGTTCTACTCACCAAAGAAAAACTTTTTTTATTTTAACTTTTTATTTAAAAATAAATATGCGTAAAGAAAAGAATACCTAAATTTATAGCTAATGAATTTTTACAAATTGAATACACCTGTATAAACACCCAGATCAAGACATAAGAGCTTTATTAGCACTCCAGAAGCCCACTTACTTACTACACCTCTTCTCCACAAGGATAACCACATTCCTAACTTACAACAGCATAGAGAAGTTTTGCTTCTTTTTGTACTTTGAGTAAATGAGAAAGAAAAAAAGCAGCACCTGACTACTCTAGACTGAGATCTGGCCAGATTCTAATAGCTTGGACTTTGTGTACTCCTGTTGAACATAAATCATTTCATAAAACACCAACATCAGAGAGGTCACTCTGACTGCAGTCATGTTTGAGCACAAAAAACAGGAACACTTTCCATAACACAAAAATAACCAAACATTCTCTTCTCCCAGTTAATATGAGTGACTCCTGCTTCTTTACCAATGATAGTTTAGTCCCACTCCATTTCTCTTACATATACATAAAAATTAAGATACTAAACCATTGTTTGCTCTTTCTGATCACACCCAATTCCCAGGAAAAGTACATTTTTCTTGAATTATTTATAAATCGCCTAACACAAGCCAAAATCCTCTAACAAGCCTCTATTAAGTCCTTTGTACTGACATAATGCACAATTTCCCATGATGTTCTATCTTTCATTGTAAAGAGCTGGTAAACGTGAGCTATGGCTCTTTAAACACTGGGATTATTTTGTTTTGTTTCTATTGTGTTTTTTGTGTGTCTGTCAGCTTTGGTTAAGTCGTATTTTTTTAGGTGATTGTTTTATCTAAATTATCACATAATATATATTTTAAATAATATTCTCATCTTTTCAATGTCTGTTGGCTTTGTAATGATGTTTCATTTTTCCTGATATTGATAATTTTTATTATCTTTTTCATTGATTAGTCTTGATAGGGATTTATCAATATTACTAATCTTTTCAAAATACCAACTTTCAATTTTTAAAATTTTAATTTTAGATTCACAGGGGACATATGCAGGTTTGTTTAACAAGCGTATATTGCATGATGCTGTGTTTGGACTCCTATTGATCACGTCACCCAGATAGTGGACATAGTATCCAAGAGGAAGTTTTTTAGCCTGCGATCCCCCCTCACTTTTGGAATCCCACTATCTAATGTTACCATATTTCCCAAGTCTGTGCGTAGCCAACCAACTTTTAATGTTGATTTTCTGAACTGTATTTTAAAATTGATGTTGCTCTTTGTTATTTCATTCCTATCACTTCTCCAAATTTTATTTGGTCTTTTCTAGATTTTTGAAATGGAAAATCAAAATATTGATAGTCTTTTCTTTTTTCTAATATATGCATTTATGTCTATCAATTTTCCTTTAAGCCCTTCTTCAGCTTCCTACCCAAGTTTCAGTTTCTTTTTTCAACTTATAAATTCCTTAGTATTTTGTTGTTTAATTTTCAGGTGGTTGGAGATTTTCTAGTTACATATTTGTTATTGATATGTAGCTTATCTCCATTTAGTCATAGAACTTATTGTAAAGTATTTTAATTTTTTGAATTCTGTTGAGCCTTCTTTCTGATCTGGCATTTGGTTATTTTTTATAAATGTTCTATGGAACTTGAAAATTGTATGAATTTTGCTCTTGCTTCATTTAATTTTCTGTACAGGTTAATTAATAGTGTCAAGTTTGTTAATTGTGATGTTCAAATCTATGCCCTAATTTATTTTTTTTCTTTGCTTTATCGTGTATTGAGATAAATATCCTAAAGTTTCTGTGATTTTGAATTTGTCTTTTAGTTCTGTCAGTTCTTGTTTTAAATATTTTGAAAGCTATGTTATTAGATGCATACATTTTTGGAAATGTGACATCTTTCTATTCAGTTGTCTTATTTATCATTATGAAATGTTCTTCTTTATCTCTATAAATGTTTCAAGCTTTAGAGTCTGATATTAGAGTGGTTACACAAACTTTTTGGACTAGTATTTACATGGTATATACTTTGCCATTCTTTAACTTTCAACTTTTTTGTTGGGTTTTTTAAAAAATATTTTATTGTGCATATTTAAGATTTACAGCATTATATTATGAGATACATATATATCATAAAATGCTTTTCTGTCGTAAAGCAAATTAACATATCTATCAATTTACACAGCTAGCCCCCTTTTTGTGTGTCAAGAGCAGCTAAACTCTACTCCTTTAGCACAACATCCCAAATGCAATAGTTTTGTTACCTACAGTCCTCATGTTGTACATTGGATTTCTAGACTTAATCATCCTACATATCTGCTATTTTGTATTCTTTGACTACATCTCCCATCCCCTCCTTCATTCCCCTGCTACCTGCCCCTGGTAAATACTGTTTTATTCTCTGTCTCTATATATTTGAGATCAAGCAGTAATTTTCTTTCTGTGTCTGGCCTACTTTACTTTGTATAATGTTTTCCAGGTTTATACATGTTATGGCAAATGGCAGGATCTACTTTTTTATGACCGAACATTATTCCATTGTGTGCATGTGGGTGTTTGTGTATACACATCATGTTTTCTTTTCTTTTCCTTTCATTTTTTTAGAACAGGGTCTGACTCTGTTGCCCACCAGGCTTGAGTACAGTGGTGTGATCCATAGTTCACTGTAACCTCGAACTCCTGGGCTCAAATGATCCTCTGGCCTCAGCCTCCTGAGTATGTTGGACTATAGGCACATACCATCATGCCCAGCTAATTAAAAACATTTTTTTTTTTTTTTGCAAAGACGAGGTCTCAGTATGTTTCCCAGATGGATCTTGAACTTCTGGTCTCAAGTGGTACGTCCGTCTCAACCTCCCAAAATGATGCGATTACAGGCATAAGCAGCCGTGCCTGACCCACATTTTCTTTATCCGATCTGTTGATGGACATTCAGGTTGTTTCCATGTCTTGGCTGTTGTGAATAATGCTGTGAAGAAATGGGAGTGCAGATATCTTTATGAGGTGGTGACTTATTTCCTTTGGGCATATACCCAGAAAAAAGATTGCTGGGTCATATGGTAGTTCTGTTTTTAATTTCTTTAGGAACCTTCCTACCATTTTTCATAATGGCTGCCCTGGTCTTCATTCCCACCAACAATTCCCTTTTCTCCGTATCTTCATCAACATTTGTTATCTCTTGTCTTTTTGATAATACCCATCCTAACAGGTGTGAGTTGATATCTAATAGTGGTTTTGATTTGCATTTCCTCATGATAAGTGATGTTGAGCATCGTTTCATATAGCTGTTGGCCATATTTGTATCTTCTTTGGAGAAATGTCTATTCAGGTCCTTTGCCTGCTTTTTAATCAGGTTATTTATCTTTCTGCTATTGAATTGTATGAGTTTTTTCTTTATACATTTTGGATATTAACCCCTTATCTGATATATGGTTTATAAATAACTCCAAGTTTTTAGGTTATTCTTTCATTTTGTTGATAATGTGTATTTTTCAGTTACTCATGTGATAATCTGTTTTTTTAACCATCATTCTGTTTTCAAATACTGTATCTTAAATACTAGTGCAATAAACACTTTTAAAATGATGAATTTAGAAGTAAAGAAAAAATATAATTGAGGATTTCTATTTTTGTCATCTATAATCAGCCATTTCAGAGCAATCTGGAATATGAAACATATTAATGTTAAAACCATACTGAATGAGAATAGATATTCCTTGGGTGCTTCAGTATCCCAGGATCTTCTTAGTGAATATTATTTATCATTGCTTGCATAAGTGCTGATAAATAGAACATTCTGCTAATAGTATCTCAGGTAACCCAACTTTTGCCGTCTTAGACTCTGTCGAAAAGCCTATATTTAGAAGTACTTAAAAATTATATTTTCAAATATTGTATAGTGAAATACAGAAGATTCAGACCAACCAATTGTGTGTTTTTTTTAAATAGGACCACGTTATGTGGTACAAATAGGTGACAAAATTATTGACTACAATGAAGAATTCCGCCTCTTTTTGTCAACAAGAAACCCAAATCCTTTTATTCCACCGGATGCAGCTTCCATTGTTACTGAGGTTAACTTTACTACAACAAGAAGTGGATTACGAGGGCAGGTATACATAGATAATAATAATTTACCTTGGAATCTTTTCGAGCTTTATATACCTATTAGACATTGTGAGTGAGAAGCTATTTTGTTAGACTAATTAGTATTTACATTTATGATTTTGAAAATAATACTTGTATGTTGGAGTGAAGCATTCTGGCTTATTTCATTTATCATATGTATTAGACCTGTACATTTGATGCTAATGTCAAATTGCTGCTCCTTTTAATATAACTCTAATTTTAAAGTTTATTTCTGTTATATGTGGTAGAATTTGAGAGATTGATGGATCGTAAAGATCATCTGCATTATATTTTTGGTTTGAAAACTGAAATTTAATTGTGAAAAGTGTAGCTAATTGACTTGTTCAGCTAGTTAAGAGTCTTTGATTCCTGAGCCAGCATTTTTTTTTAACCATTAGAACACATGGCATCTTTGAAGTCAATTTATCTTCATATGGCTCATTACAGTTCAGAATTATTACATAAATTTCAAAATGATTTTTCATGTCCATACTCACATGTTTCCTAACTCATTTTTTCCCCTTTAAAGATATAATGCCAGTTGACTTTTGGAGTATCATCCTATTTTTTACTCATCTAACAATAGTAGATTTTTTTCATCTTTTGATTTATATGATAGCATACATATTTGCTGCAATTTTTACTTGATTGTAATTTTTAAAATTGTCCTTTCAAAATATTTCTTTGTATACCATATGACTCATCAAGTATATTTTAATGAACAATATCTTTTGATTGACTTGATGATACTTCTTTTAAATAAAACAATGTGACAATCATTCAAAACTTGGCAGAATTAATTGACAGAATTGCTCCTGCTGTGTAAAAGATCTCCACAGTAGTTGCAAAAAAGGAGCTATGTAGGTCTTACTTAGCAAGAACTAAATGAAGATGCTTATACAGCAGATTTTGAATTACATATTTTATACCAATGTCTTTCTCTATTTTAGTATTCAGAGTTAACAATTTGACATAGCATTTTTCAACAGCTTCACAGATAACAGCTTTAACAAATACAATGTACATACCATACAACTTGCTGATTTAAAATGTATAATTCAATGGTTTTTTTAGTGGAATTGCTGGGTCTTATGGTTACTTTATATTTGGCAATTTGAGAAACAAATCTTTCCAAAGTGGCTGCACTATTTACTTTCCCACCAGAAATATAGGAGGGTTCCGCTTTTTTCCATATCCTTGCCAACTCTGGTTGTTATGTATCTTTTTAATTGTAGTCATTCTAGTGGGAGTGAAGTGGTATCTTATTGTGGTTTTGATGACATAGTATTTTATCTTTTTATTTGTTTATTTTATTTTATTTTTTTGAGACGGAGTCTGGCACTGTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCGGCTCACTGTAACTTCTGCCTCCTAGGTTTAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGAGTTTCACTATGTTAGCCAGGCTGGTCTCGAACTCCTTACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCATGCCTGGCCCTTTTTATTTGTTAATGTGAATACTTACTATTAAAAAAATAGTAATCTCATAATTTAGTATATTTAATTTAAAACTAAATATTACACATTGATATGTTAAGTAATGCACTTTCTTACAGCTTTTCTACAGTAGTTAATATTTTACTGATCAGCTTAACTGTTTTGTCTCTTTTTCATCAGATGTAATTGTTGAAGGTGTCTTATGTTTAATTAGAAAGAATGAAATGAGATAACATAGTATCATATTTGTAATAGTCTGTCAAACACAAGGCCTGTTTGCAGGAAGTTTTTGTTTTGTTTTAAGCCTTATTGCTAGAATTACCTTGTCTTTTTGTTATCCCAAGCTTTTAGCTTTAACCATTCAGCATGAGAAACCTGATTTAGAAGAACAGAAAACAAAACTATTACAACAGGAAGAAGATAAGAAAATACAGCTAGCCAAGCTCGAAGAATCTCTTCTAGAGGTAAAAGTCTAGCTATTTAGGTTACTTTTTTCGTATTACTTTTTTTTTAATGAATACAAATAACAGTGTTTGGAAAATTAATAGTATCTTCAGATTTTTTTTTCCAAAGACATATTAGTGTATATCTTACAGTCAAAATTCTAACAAGAAGGGGAGCTATGTTTTGGAATACAAGATCTTAATGAGCAATGTTTAAGACAAGCAATTTTTAACTAATTTGTATTGTTTTATTATTTAATTATATGCTAATAATTTCAAGAAGCATTGAAAGCAAGAAATTATAACAATCTGTAACTTTAAGTAGTTTTTATTTTTTATTAAATTGACAAAATTAATACCTTGCTATGTTTGATAATGATATAATTTCTTAAAATAATTTATGAATTCATTTGATATAAGAAGACTATAATAAAAACAGAATAAAACTTTAAGAGGGCTATAAAATGTTGAAATTCTTCTAAAATAACATAAGTTGCCATAAACATCAAATGAATGACAGTTAATATGGGTTTGCTTTAATTGGTTATTTTTATATGTATAATAATATTCATATTGTTAACTTTCCCTACAGACACTTGCCACATCTCAAGGCAATATTTTGGAAAATAAGGATTTGATTGAGTCTTTGAATCAGACAAAAGCAAGCAGTGCACTTATTCAAGAGTCACTTAAAGAATCTTACAAACTCCAAATTTCCCTTGATCAAGTAATTATTTCCTTCTTTGTAATTTCGTATTATGTTTTCTTGAACATTTAGGTTAATATGATAGAAAATGTAGAATCAGGTCCTCAGGGGAAAGATGATGTGAAAAGAAAAAAGCTATTCAAAAACATCAGAACATTGGGTTTGATTCTAGTTATTGTAGAGAGGGAATTCAGATGTTGGCACACTGAGGATAAGGAGTGTTTGTCAGTATACCCTGCTGCCTTCTACTGATTTCTGGCATAATGTTATCTAAGGTAGAGCTGCAGTTTTGTACTAAAATTGGAAATGAGTATATTGAAAATGAGTATTAGAGAATATCTTTGCCGTTCTTAGAACTTTTCTTAAGTTAAGGCAAGTTAAATATACTAATTAAAAGGGTTATAAGCTCTAAGGTACAGTTATTGGCTCTTTTCATGCTTATAATGAACAGTGCTGGGTACTTTATTATCCTAATGTGGACACCTGTTAGAGTCATCTTCTCTACCTCTAGTTCCATCAGTGTTCTTATTGTCACCAATCCTATACTCATAGTTCGAACTTTTCTTCACATCAGAGATAGCCTGATAGCGCTGTGCTGTCTTGCGTTACCTTAACTGATTCTCTTTTGAAATGTAAAATTGGATCATCTATTCTCTGATCACAAATATTTACCATTTCATCTTACCCACTTTCCCCTAATACTAGTGCTGTTGGTCCTCATTAAGACCAATCTGTGAACCACTTCTAGCTCTGTCAACTGAGAGGTAGAAAGGTGTTTAAAATATATTGCTATAGTCTGAATATTTGTGTGTCCTCATCACCCCCAAAATTCATATGTGGAAATGTAATCCCCAGTGTAATAGTATTAAGAGGTGGAGGTTTTAGAAGGTGACTAGGTCATGAGGGTGGAGCTCTCATGAGTGGGATTAGTAACCTTATAAAAGAAGGCCAAGGGAGTTTTTTAGCCCCTTCCAGCATGTGAGAACACAGCAAGAAGCAGTTCTTTCTGTGAACCAGGAAACAAGCTCTCACGAGACACCAAATCTGTTGGCACCTTGATCTTGGACTTCCCAGCTTCCAGAACTGGGTGAAATAAATTTCTGCTATATAAAAGCAGAACGAGTTTAGTGTATTTTGTTATAGGTAGCCTTAATAGACTAAGACATATATTCTTTGCAGTTTTATAAAAATGAGGAAGAAAAACTAGATTTTGCTATCTTTTTTAGTTAGAAACCATGATTCATCATCTTCATTTGTTTTATGTGCATAGAAAAAGTAAGGTTTTTTTATTACTTGGGTAGATATGTGCATTGTAGTCTTTAGGTGGCAGTAAAGCACTAATTCTAAGGTGTTTCCACCCTATCCCCTACTGATCTCTTGATCCATAGGAACGGGATGCCTATCTCCCCCTGGCTGAGAGTGCCAGCAAGATGTACTTCATTATTTCTGATTTGTCCAAAATTAATAACATGTACCGTTTTAGTTTGGCTGCTTTTCTCCGACTTTTCCAACGAGCTCTACAAAACAAACAGGTAAGCTGTTGGATACCCTGTACCAGAGACTGAATTACAGGGATTACTTTACTAGGGATAGTACTTAATTTATAATAAAAATTATTAAGCAAACTTTCATAGAATTATGTTCCAAAAGACCACATGTAACACTTTTAAGCTATATAAAGAAACTACTTAATTTCTTTTTATATTGTTAACAAGGTGTCCCAATGTGACAATCTTTTTAATGAAAACAGTTTATGTTCTGAGTATAAATTAATAAGTAATATATAATCATTTAAAAAACCCAGTGATTCTGAAAGGTATAAAAATAAGAATTATCCCTATAATATCATTACCTGGGGAAAACAACATTTAACATTTTATTATATATCCTTGTTGTTTAAGGCAGTAACTTTCCAGATAATGGAGGTACACTTGTCCACTGCCTTATCAAGCATGTATTCTAATGGAGGGAAGTATGTATTAAAGGATAACAAATTGTTTTAACTAAAAGATACAATACTGTGCTTTAAAAAGTGTATTAGTGTATTATGGACAGCTTTCCTACCAGTGAATATAAACTTAATGTTTTTAAGAGATGGTGAGGCTATACCATACTTTATTTAACCACCTCCCATATATGCACATTGTTCTAATTATTTCTGTTGAGTATCGTATTAATCCGAAACTTGGCCAATTAAAACTATTTTCTTATGCTTATTGATTCTATTGGAAATTTAGTCAGGACTCAGCAGGGATGACTTTGTTTGTTTCACAACGTCTAGGACCTCAGCTGAGAGGACTTGAGAGTTGAGGGGCTAAGACAGGTGCTTCACTTGCCCGCCTGGTGCTGTGGGTTGGGAGGACTTGACGACAGGACTGCCAACTGCAGCACCTCTGCAGGAGGCTTGGCTTTTTCACAGCACTGAGTAGATGGATGGACTTCTTATTTTTTAGCTCAAGGCACTAAGTATGTGTTTCAGTGAATAAGGCTGAAACTGAATAGCCTTTTAAAATGCAGCCTTAGGTCTGTGTCATTTCTGCTGTATTGTACTGGCTGAAGCAGTCACAAATCTATGTAGAGTACAAAACTTTCTGCTGTTTAAAAAATCTACTGGATCTTGTAGGTACAGTACTGTGTCTTATGATAGAGTGACTTTTAGGAAATCCAAGTCTCAATTTCATATGTGATCTTTGTTAACATATAGTGAAATGAATACAAGTATTTGCTATCTAAAGTAATGATTAGTTGTCTTGGTTAGAACATGCTACTACAAGGCTAGAAGCCTAGGATTAATGCATCTGAGTTCCAGTTCATAATGTTTTCTTTATACCAATTTCACACATTTCTTTGCTGATCCTGGATGTATTTTTCTAAGCATTAAAATTGTTTTACTAGGTTTTTTTCTTGGTATTAATTTATAAATCACAAGGAAGCAAGCAAATTTAGTCTAATTGTTATACCAGAATTGATCTTCCTAAGACATGTATTCTCCAAATGCTCTGAGATGTAAAACTTACATCACACTAAGGGAAAAGGACAGGTTGACAACCTACCCTTCCTCCATTTCTATGCCAAACAATTTTTCTTTAATCAAAGGAAATAGACACTAATAACATGTTTTTCAATTATTACAATCTTGCAAAACGGAATTATTATATCAGATCAAAAACTAAAATTTTATGTGAGTTTTTACAGCATCAATTTCAAAGTTATTGTTCATCCTTATTCATCCTGCAGCACATGATTTAAGATCATTGAGGTTCCCATATTGAGAATGAGAAAATTCTTTATAAGGTATTCTTGTCATATTGTTTTGGGGCTGGATTGATAATTATAATATAAATAATTAAAATGGCCTTAACCTAGATTGATGTAGATAGTATTTTAATGCTGATAGGAGACTGATATAAAATTCAACTTATATTGTATTATTGGGAATTGATTGTAATTTTCATTTCTTGAAAGCTTTAACTCTATACATTAAAGAAAGATGCGTCATTTTTTAATATTATATTAGTATACAAGTTTAATGCACTTGTTTAGTCCCTTGAATTTGATGGTTAAAGATACTTGTTTCAGAATCAGCTTTGAATCTGGAGGAACAATTTATAGGCGTACTTTTTAAATGTTTATAAATTTCCTAATGAATTTCCAATTATAATCTACAGGATTCTGAAAATACAGAACAGAGAATCCAGTCACTTATCAGCTCATTACAACATATGGTATATGAATATATATGTCGTTGTCTATTTAAGGTAAGAAGCATCATATTTTTCAAATATAAAATACTACTTGTTCTGTGATTTAACGTAATATTTATAGTTATAGTATAACTCTTTCCCTACTGGAAAGGTATTAAAAATGGTATTTCTGGTATTTTTCCAGAACATTTAACTGGAATGCCTTATAGCATTCTTGGTTGTAGTGGGGAAAAAAGTGACAAGTGAAGAAGGGACAGCAAACACTGCGTTAGCTGACTTAGTTCTAAATATTCCAGTGGTCACCAAAAGAGATAATGACAATGGATTATGTATCTCATTATATAGCTAGACTTTCTCATCCTCAGCAACTGACATTTTGGGCTACATAATTCTTTGTGTGTGGGATGTTGTTCTGTGCGTTTTAGGATGTTTAGCAGCATCTCTGCCTTCCAGCATTCCTTCCCATCAATTGTGAGAATAAAAAATGTCTGTGGACATTGTCCAATGTCTCTGGGGTTGAGGAACAAAATTATTTTGCATTGTTAGCATTAGGAAGTAAACTAGTGTTTGATCCTGAGTTATGAAATTTTTTACAGAAGTCTTCATATTACGTGTGTTCCAGAAGAGAACACACATCGGACAATATTTTAGAAATTTTAGATATTAGAAAACGCAGAGGCCTTTTTGTACTTAGAATTTTTTTTTTTTTTTTTGGAGACAGAGTCTCTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGAAGTCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTTCAAGTCATTCTCCTGCTTCAGCCTCCCAAGTAACTGGGACTACTGGCGTGCACCACCATGCCTGGGTAACTTTTGTATTTTTAGTAGAGAGAGGGATTCACCATGTTGACCAGGGTGTCTCGAACTCCTGGCCTCATGTGATCTGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTATAGATATGAGCCTCCATGCCCAGCCAGAATTTTTTTTTTTTTTAAATAGCAATCTGTGGGTATAGCTTAAGACATAATGTTGCAGAATAGCTTTGTAAAGGCAATTAATTCAGAGAAATAGAATTATTATGGTTCAATTATATAGGCTTCTTAGAAAGTGTTGAAAAATATACAGTTAATGTATTTTTAGAACAGGATAGTAATTTTTGTGATTTTGTTGAGGATCTTTATTTGAGATACAGAATAAATCCTTCAGAAGCTCTCTGGGCAGGGCATCTCTGAAAGAAAGGCAACACCCCCAGTCAGGGGCTTATAGATAAAACTCCCATCTCCCTGAGACAGAGCAGCTGGGGGGAAGGGGTGGCTGTGGGCGCAGCATCAGCAGACTTAAACATTCCCACCTGCTGGCTCTGAAGAGAGCATCGGATCTCCAACACAGAGCTTGAGCTCTGCTAAGGGACAGATTGCCTTCTCAAGTGGGTCCCTGACCCCTGTGCCTCCTGACTGGGAGACACCTCCCAGAAGGGGTCGACAGACATCTCATATAGGAGCACTGCAGCTGGCATCTGGTGCGTGCCCCTCTAGGACGAAGCTTCCAGAGGAAAGAACAGGCAGCAATCTTTGCTGTTCTGCAGACTCTGCTGGTGATACCCAGGCAAACAGGGTCAGGAGTGGACCTCCTGCAAAGTCCAGCAGACCTGCAGCAGAGGGGCCTGACTGTTAGAAGGAAAACTAACAAACAGAAAGGAATAGCATCAACATCAACAAAAAGGACATCTATACAAAAACCCCATCCGAAGGTCACCAAGATCAAAGACCAAAGGTAGATAAATCCACGAAGATGAGGAAAAACCAGCGCAAAAAGACTGAAAATTCCAAAAACCAGAATGCCTCTTTTTCTCCAAAGGATCACAACTCCTTGCCAGCAAGGGAACAAAACTGGACGGAGAATGAGTTTGATGAACTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAGACTCCTCCAAGCTAAAGGAGCATGTTCCAACCCAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGAGGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAACACAGCACAAGAACTGTGTGAAGCATACACAAGTATCAATAGCTGAATTGATTAAGCAGAAGAAAGAATATCAGAGATTGAAGATCAACTTAATGAAATAAAGCATGAAGACAAGATTAGAGAAAAAAGAATGAAAAGGAACAAACAAAGCCTCCAAGAATTATGGGACTATGTGAAAAGACTAAATCTGCATTTGATTGGTGTACCTGAAAGTGACGGGGAGAATGGAACCAAGTTAGAAAACAGTCTTCAGGATATTATCCAGGAGAACTTGCCCAGCCTGGCAAGACAGGTTAACATTCAAATTCAGGAAGTACAGAGAACACCACAAAGATATTCCTTGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGTAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACTCACAAAGGGAAGCCCATCAGACTAACAGGGGATCTCTCTGCAGAAACCCTACAAGCCAGAAGAGAGTAGGGGCCAATATTCAACATTCCTAAAGAAAAGAATTTTCAACCCATAATTTCATATCTCACCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAGACAAGCAAATGCTGAGAAATTTTGTCACTACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACCAAATATGGAAAGGAAAAATCAGTACCAGCCACTGCAAAAACATACCAAATTGTAAAGACCATCAACACTATGAAGAAACTGCATCAACTAACAGGCAAAATAACCAGCATCATAATGACAGGATCAAATTCACACATAACAATATTAACCTTAAATGTAAATGGAGTAAATGCTCCAATTAAAAGACACAGACTGGCAAATAGGATAGAGTCAACACCCATCGGTGTGCTGCATTCAGGAGACCCATCTCACATGCAGAGATACACATAGGCCCAAAATAAAGGGATGGAGGAATATTTACCAAGCAAATGGAAAGCAAAAAAAAAAAAAAAAAAAAAAAAGCAGGGTTTGCAATCCTAGTCTCTGACAAAACAGACTTTAAATGAACAAAGATCAAAAAAGACAAGGGCATTGCATATGGTAAAGGGATCAATGCAACGAGAAGAGCTAACTATGCTAAATATATATGCGCCCAGTACAGGAGCACCCAGATTCATAAAGCAAGTTCTTAGAGACCTACAAAGAGACTTAGACTCCCATGTAGTAATATTGAGAGAGTTTAACACCCCACTGTCAATATTAGACAGATTAATGAGACAGAAAATTAACAAGGGTATTCAGGAGTCGAACTCAGCTCTGGACCAAGCGGACCTAACTCCACCCCATCTACAGAACTCTCCACTCCAAATCAACAGAATGTACATTTTTCTCAGCACCACATCACACTTATTCTAAAATTGACCACATAATTGGAAGTAAAACACTCCTCAGCAAATGGAAAAGAACGGAAATCATAACAAATAGTCTCTCACAACACAGTGCAATCAAATTAGAACTAAGGATTAAGAAACTCACTCAAAACTGCACAACTACATGGAAACTGAACAACCTGCTTCTGAATGACTAGTAGGTAAATAACAAAATTAAGGCAGAAATAAATAAGTTATTTGAAACCAACGAGAACAAAGACACAATGTACCAGAATCTCTGGAACACAGCTAGAGCAGTGTTTAGAGGGAAAGTTATAGCACTAAATGCCAACAGGAGAAAGTAGGAAAGATCTAAAATCAACCCCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGACAAGAAACAGCTATCAGAGCAGAACTGAAGGAGATAGAGACATGAAAAACTCTTAAAAAAATCAATGAATCCAGGAGCTGGTTTTATGAAAAGATCAACAAAATAGACCGCTAGCAAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAGACCAATAACAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAAAAAAGCCCAGGGTCAGATGGATTCACAGCCAAATTCTACCAGAGGTACAAAGAGGAGTTGGTACCATTCCTTCTGAAACTATTCCATGCAATAGAAAAAGAGGGACCCCTACCTAACTCATTTTATGAGACCAGGATCATCATGATACCACAACGTGGCAGAAACACAACAAAAAAAGAAAATTTCAGGCCAATATCGCTGATGAACATTGATTAGAAAATCCTCAATAAAATATTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCACAATCAAGTTGGCTTCATCCCTGGTTCAACATATGCAAATCAATAAATATAATCCATGACATGAACAGAACTAATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTCCAATAAAATTCAACACACCTTCATGCTGAAAACTTCATAAACTAGGTATTGATGGAACGTATCTCAAAATAATAAGAGCTATTTATGACAGACCCACAGCCAATGTCATACCGAATGTGAATCAATATCAGTATCATACTGAATGGGCAAAAGCTGGAAGCATTCCCTTTGAAAACCAGCACATGATAAGGATGCCCTCTCTCACAACTCCTATTCAACATGGTACTGGAAGTTCTGGCCAGGGCAAAGTGGCAAGAGAAAGAAATAAAGGGTATTCAGATAGGAAGAGAGAAAGTCAAATTGTCTCTGTTTGGAGATGACATGATTGTATATTTAGAAAACCCCATCGTCTCAGCCCAAAAGCTCCTTAAGCTAATAAGCAACTTCAGCAAAGTCTCAGGATACAAAAAAAGGATGAATTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACCACATGTTCTCACACGTAGGTAGGAGTTGAACAATAAGAACACATGGACACAGAGAGGGGAACATCACACACTGGAGCCTGTTGGGGGGTGCGGTAAAAAGTGAGTGAGAACATTAGGACAAATACCTAATGCAGGTAGGGCTTAAAACCTAGATGATGGGTTGATCGGTTTAGCAAACCACCACGGCACATGTATAACTATGTAATAAACCTGCACGTTCAGCACAAGTATCCCAGAACTTAAGTAAAATTTTAAAAAACAGAAAAGAAAGATAGTCTTCAAGCTCTCAGATTCTTTCCTCCACTTCATCTATTCTGCTCTTAATAATTTAGATTCCTTATAAAATTCTTGTAGTAAGTTTTTCAGCTGTATCAGATCAGTTGTATTCTTCTCTATACCGACTAGGTTGTCTGTCAGTCCCTGCATTGTTTTATCATGATTTTTAGCTTTCTTGGATTGCCTTTCAATGTATTCCTGTAGCTCAATGATCTTTATTTTGAATTCTATTATCTTCTTTATCCATATTATGAATTCTATTTCTGTCATTTCAGCCATCTCAATGTGGTTGCTTGCTGGAAAGGTGATGAAGTTGTTTGGAGGAAAGAAGGCACTCTGGCCTTTTGAGCTTTCAGGTTTCTTGGGCTGGTTCTTTCTCATCTTTTTGGGCCTACCTATCTTCAGTCTTTGAGGTTGCTCACCTTTCGATGGTTTTTTTGTTTTTCCTTTTATTCTATTTAATGACATTGAATGTTTGATTGAGGTTTAAGCTGGATTTAGTTAGCTGCTTTTGTTTCTGGAAGATTTTAGTGGGCCAGCGCTCATCTCCCATTTCCTGGACTGTGTGCCCTAACTCTGGGGGACTCATATTGGGCCCCAACTTTGATCTCTGGCTCCTTGGGGTTAGGAATCCACTGTGGTTGGGAATCCACATGTAGGGCAGTCAGGGTGGGTGGGGTGGGAGGGGCAAGGCGCTCTGTGACCGCTGGTCACTACACTGCGATAGGTGGTGTTACCTAAGTGTTTCATAGTGCGGTTACAGTGGGATTCATCCCTGTTTGCAAGTGCCAGCAGCAGTGGTAGCAGCAGCTGTGTCAGGGTACTAAATGGTCCCAGAGTGCCTACCTTTCTGCTTGCATTAACCAGGTGGGGGAGGCAGCACAGCTGCGGGGAGGGCATGTGGGGCCCCTGCAGATGACTGTGTGCATGATCACACTGCAGGTGGTGTTGGCTCAAGGGCAGGGCCCCTGTGGGTGCAGGTGGGTGCCTTCTCTGTGACCCTGCAAGCAGGAGCGGTCACTCAGGTCTGGGGAGCATCTTCTCTTCTCTGCACTTAGTTCCATTCCAGTGGCAGTCTTAGCACAAAAGTCAGCCACTAGCGGGGGTGGGGCCAGCTGGTTCTCTGCCTGCCAAGGCTCTTTTTGCGATGGTGGTGGGTGGTGGGAGGTTGGGCAGACTGCACTTTCACATGCTGGTATGGCAAGGAAAGCAAAAGCTGGCTATGCATACATGCACCGCAAAGATGTGTGGAGTTGCTGTGGATCGTGGGGAAGCTGGAGTGTGGGGAGGGAGCGCATGGGCTGGTGCACAGCTATGGAGACAGCTCTGCTGGAGCTGTCTGCCAGTCAGGCACAGTCTGCTAATGCAGGTCCCCTGGGCACCTGAGGCTGCCCTGCAAGCAGGCGTGGCCAGATTGGGGCTTCCGGAGATGCCAGCAGACCAAGGGGTGCTCAGGTTAAAACAGCCAGTCTAATGGGCAAGACTGCCCTGCAGAGTTCAGGACAAACAGTTCCCTTAGAGCTAAAGTCTCCAATGGGAGCAAGTTGAGCTGGGAATGGCCATTCCTGGCCAGCTCTGCTGCACATACTCCGGTACCAAACCCCCTGGGCTCCACATCAGCTGGCTTGCTGCCCCTACCACTTCTGTAAGCCCCTCTCCCTGCCAACTCAAGTGTCTGTGGTGGTCAAGGGATCTTTTCCTGCCCGGGTTCCAGAGGCCTGTGGCGAGAAAAGGTTGCATCTTGCCGGTTCAACTCACTTAGTCCCCAGAGCCACTGAGGGCCAGGAACAAGTCCAGGTGTGCAGTAGCTCTGGGTGGGGTTCCCAGCTTTCTCCTCCTTCAACCGAGCTTCTGTGTCTTCCCTGTATCACTCTTGGTGCTTTCCCTCTGAAGATCTGTTAGGGCCCGCCAGTCTTCTTGGCCCTTCAGTGGGAGCTGTTCCACCTGGTTGCATCTAGTAGGTCATCTTGCCTTCCACTCTGTATATTTTCCTTGTAAAGATTTTGCACTTGACTATAATCCAAACCTCACTTTTTAAGCCTCAATTTTACCTTGTGTAAAATGGGAAATTATAAGCAAATGATCTCAAAGCCATTTTGTTACTAAAATGTTATGATCCTAATTATGAAGATAACCTTCATAGTGATAGTTTCATTAGTTATAGATATCCTGTTTTGTCTAATATTGTATAATGTATTATCTCATGCAATACTTAAAACTTTTTCATTATACAAACAAAACTTTAAAATATTTTTAGAGTTTCAAGCTTAATGGAACTATATAGAAAGGAAACCTTAAAGATCCATTTAACTATTTCCATCCCTTATTCCTTCATCAGAGTAAACCAGTTCAAGGTTTGATTTGTTCCTTATCATCCATTTCCTATCTCTTTATATTCATAAGTACAAATATATAGATATAATTTTTAAATTTTTCTTGCTATATATTTTGTTCCATAATTTCTCTCTTCTTTTTGTAGTAAGGCCTGAAGATCTTTCCATGAGTATAAACATGTTAACTTCATTATTTTTAGTGACTGTGTGCTATTTTATAATATGACCATGTACTACTTCATCTACTACTCTCAGTGAATATTAGATTATTTATACATTTTTTGTTCTTATACATGACTATAGTGAATATCCTATATGGTACACTTATTTTTATGTATAGTATAAGTATTTCTATTCAGTAAATTTCTGTAAGTATAATTGCTGGTCCAAGGATTGCTTTATAAATCTTATTGAATATTAGCAGATTGCTTTCTGAAAAGCTTTTTACCAGTTAATATCTCTACCCACATAATAATAAAGGTATATCTTTATCTCCTTTGTTGCACCTTATCAACCCAGGATGTTATCAGTCCTTTAAATTTTTACCAAGCTCTGGTTTATAAATGTTATCTTATTGTTTTTAAAGTTGTTTATTTCTACCTTCTTCCCTTACCTTGTCATATTCATCTGTTTTCTTGATATTTTAAATAAGCTTTTGCTTTATATAGAAAAAGTCTATTTTGCTGTAATTATTATCTTCTATTTTTTAATCATTGGATTTACTTAATTTATACTTCTAGGTTGTTAGATTTGTATGAGTAGTTTTTTTAAATGTAGTTTTAATCTGTTTTATTTTCTAGGCAATATATTAAGCCTACGAAGTTTCGTTATTGGTCAGTCTTGTAATAATGTGTTTAATGGTTTTTAAATTTTTATTTCTAAGACCTTTACACTGAAATGGGCTGTGATTTATGAAAATGTTATGGAGTTACAGTTATTTTAAGCTGCCCCAAATCTTTTTTGAAAGTGGATATGTTATAAATAAATATTATTATTAAAAATTGTTTATGGCAAAAGAGAATATAAACTTCCTTCTTGTTCATTTGAAATATTAGTAGCTTTTCTTATTAGGAGTTAGTTGCTTGTTTCTAAGCTATGTGTCTTATCTCAGTTTATATATTCTCATTTTATCGTTAGTAATACAGTATATTCACTGATGAAATTTGAACCCCTGTGTCATATTTTATAATGTAATTTGGGAAGGATAAAATGATTTAATATATTAGTGGACTATAGTGACTGCAGTGGGATTATTTCTTTGAAGTTACTTTAACTTTTAAAAATGCATATATTAGGCAAAAGGCAGCATTTTGTTCACTAGGACAGACGTTGAGAGGCTTAAGCTTATTAATATTTTAGTTAGTACTCAATTGGGATTTTTCATTGCTTACTTTGAATAATACTTTTCTATTGTGAACATGTGAAAATCATTTTTAAAAAGCTATTTTTAAGACATGTTTTAATTGATGATGGAATATCTGTTTTGGAAAATTCATATTTCTGTTTGAGTAATATTAAATTCAACATTCCATAGAGTTTCAGTGATTAATAAAAATTCAGAAAGCACATTAATCATATAGCAATGAGATACATTTCTCAAATTTATCACTATAACCTTACTTAGGATGGAACCAATTTTATATTTAATGAAAGCTTTTAGGGTTTTTAGCAGTCAGCGTAACATTAAACTACCTGCTAGGTTTCTCTCATGCTGAATTTGCTCTTGTGTTGGTGACAGCAGTATGGCAACAGTAGACTCTTGAAATAGAGAGAGACTAGGATTATTAATATTCACATCACATTGAACTGAAAGCAAGTTGACCTGGAACAGAAACATGATTGACTTATTTTGTAGCAGGAAATTTAGACTGTTAATAAACTAAAACACATAAAGAAAGCTGTCTAGACCTTTCAGTTTATATTATTAGCTATTCCATTGTTTTTTCTTCAAGAGATCAAAAGTTTTTATTTCAGTTACCTATTTCAGACAATTATAGGATAAATTGTATATTTTGTTCCCTAAAACTTATGTTTATAATAAAACAATTTTTATATCTAAGTACCTTTATGTATTGTTTCTTCATTTACTTTATAATTTAGAATAGGTACAAAATAATGGAAGTTGTTGGAGTATTCATTTTCAACTATATAGGGTGAGTATACAGAAAATGGTTGGAGCTGGGTGCGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGTCAAGGCAGGCGGATCACCTGAGGTCAGGATTTGAGATCAGTCTGACCAACATGGTGAAACGCCATCTCTACTGAAAATACAAAAATTAGCTGGGCATGGTGGGGTGTGCCTGTAATCCCACCTACTCTGGAGACTGAGGCACGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCATTCCAGATTGGGTGACAGAGCAAGATTCCATCTCAAAAAAAAAAAAAAAAATAATAATAATAAAAGAAAGAAAATGGTTGGAAGGAAGGATTGGGAGCATGTGCAGTAGTCATCTCTTATCTATGGGGGATACAATCCAAGACACCCCGCATGGGTGCCTAGGACTGTAGATAGTACCAAACCCTATAGGAAAAAACATAATATATGTAGGCTTTGGTATTATCCTATACATATCTATATCTACAGATATATATCAGTGATAAAGTTTAATTTATAAATTAGGCACAGTAAGAGATTAACAATAATAACTAATAGTAAAATAGAACAATTGTAACAATAGTGAAATAGAGCAATTGTAACAATTGTAAAATAGAACAATTGTAACAATATATAGTGATGAAAATTATATGATGTGGTACCTCTCTCTCTCTCTCTCTCTCTCTCGAACTATCTTATTGTACTCTACTCACCCTTCTTGTGATCTGTTGATCTGATAACTGAGATGGCTACTAAGTGATTAACGGACAGGTAGCATATATGGCATGGATCTGCTGGACAAAGGGACAATTGATGACCCAGACAGGATGGAGCCAGACAGCACATGATCTCATCATGTTACTCAGAATGGCTTGCAATTTAATATCTATGAGTTCTTTGTTTTTGGGGTTTTCCATTTAATATTTTCAGACCACTGTTGACTGTAGGTAACTGAATCCACAGGAATTAGAATACTATATTCTTACTGTTTCCCTTACTTCTTGGAATTAATATCTTAGATTTGAAATGGCATAGAAAAATGGTGGAATATGAGGAGAAATTGTTTTCATGCAAACTTCTTGAAAGTTAGTGTCTGTGCCGCTCACCTTGCCTCCATTTCCATATGAATTTGTTTGTTGATGGAGTAAAATTCAGATATATATTATGTTTTAAAGTATAATATTACTAACCTCACATGATTGTATTTAGTGTGCAAATAATTTAATTTGGATTCTGCTATTTTTTCTGCGAAGATTAGTTTTTCTTATATGAAAAAGTGGAAGTTCTGTGGTTGGATGTTTAGAAATTTTATAACTTGTGGCTACTAAAGTGAATCTTAATAAGTGACACAATTTTCTTCTGCTTAAATAACTTTGAAACTCCTAGAATTGTATCTAATCCTTTGAGTTTTCTGAAAATACAGTTGAATGTGCATAAAATTATTCATGAAAATGAGTGATTTAGTCTCAAGCAGTATGTGAATGCCCAAGTTCAATGTTATATAAACTGCTTTGAGCTTAAAGCATGACTTCTCTTCACAAGGTAACATTTCTTTTATACTTTTCATTGAACATATTTGAAAGCAATAAATATAGTAGAGTAGAAGTAAAAGGAATGAATTACTTAGATTTTTTACTGCTTCCTTAGTCTCTTTGAGGATCATGGGGTTTATGGAATGTTTTGGAAGTAAATTTGATATGACTATTATATAGTATATCAGTTTACTGTATATCAGGTAGTTATTTTACTGATCACCTTTTGTTAAGTGCCTTACATATACTGCCATTTAATGCTTACAACAATTCTGTTATACAGAGGAATAAACTAAGATTTACAGCTAATAATCTTTAACTTAGATCTAGAGGATAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATGAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAATGCTTTTACACTGTTGGTGGGACTGTAAACTGGTTCAACCATTGTGGAAGTCAGTGTGGCAATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGAATTATAAATCATGCTGCTGTAAAGACACATGCACACATATGTTTATTGCGGCACTACTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAGTGATAGACTGGATTAAGCAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTGAGCAAACTATCGCAGGGACAAAAAACCAAACACTGCGTGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACTTGGACACAAGAAGGGGAACATCACACACCAGGGCCTGTCGTGGGGTGGGGGGATGGGGGAGGGATAGCATCAGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCATACCAACATGGCACATGTATACATATGTAGCAAACCTGCACGTTGTGCAGATGTACCCTAGAACTTAAAGTATAATTAAATAAATAAATAAATAAATAAAAAAGAAATTCTAGTGCATCCTGCTTGATGCTGAAGTTATCTTGCTGATAAGATGCAGTTGAAACAAACCACTATGCCTGGAAATGTGGACTTGATCTCAACTATAAGATTCACTTTAAGATGTCCTAATGTCATATTAATCCTGATCTAGTAGTTTCACTCTAATTATAATTATTTACTAGAGTGTATGGGATTTAATGTATGGGAGGTGTGGTTGACTTAAACCATCTAATGGCCTACTGTCATTTATTAATTTTTCTTCATTAGGTAGTTATTCATTTAGAGAGTTATTCACTTGAGATTTTGCTTGTTATATATCCCCTTGATATTAAAATATTTTTAAACAAAACTCAAGTATATTGAAATAAATTGTCATTGAATTAAAGTGACCAAATTTCTTGATCTGATAAAGCAAAAATAGATGAAGGATTTTAAAGATACCAAAATATTTGCTCAATTTTGGATTTTGACAGTTTTTTTAAAAAAAAAACTATTCAGAAAGCCTTAATTTATTCATTTTTTTCTCCCTTCCCTTCCCTCCCCTCCCCTTTTCTTTTCTTTTTCTTTTCTCTTCTCTTCTCTTTCTTTTCTTTTCTTTTCTTCTTTCTTTTTTTGATAGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTAGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCTGAGCTAAAGCCATCCTCCCACCTCAGCCTCCCAAATACTGGGACTACAGGCACACACCACCATGGGCGGCTACTTTTTGTACTTTTTGTAGAGATGGAATTTCACCATTTTTCCCAGGCTGGCCTCAAACTCGTGAGCTCAAGTCATCTGCCCGCCTCTCCCTCCCAGGATGTTGGGATTACAGGCATAAGCCATGGCACCCAGCCCCTTAATTTTTTTATTCTTAATTTTAATTCAGTTTAACTGGAAATAATGCAGCCATGCACTTGTGCGCATGTTCTTTTTCTCTTTTTCTGTAAATTGTGTTTTTAGTATTATTCTTGAATCATTATTGTTCTGCTTTATAATGTTATTGTTAAATACTTATGGCTGAAGGGATTTATTGGTACAGGTAGGCAACCAGATATAGGGCCAAAAGAGCTTTCTTTGCCATTTCCAGCTTAGAAAATTAAGGAAGAAGATCCTGGTTGGCCTGTCTGAGGTCACATGGAAACCCTTGTATCAATGTCTATGGAGTGCTGCGATGTGATTGAGCAACACCGTAATTATATGCTCATTCTTAAGGTCAGGATATCTTCTGTAACCAGATAACAGGAGAAGGGTAACCACCATTACCCACTTATTGTCTACATATTATGTGCCTATTTTTTGACAACATTTTGGAGTTTTGGGCTCAGTAATAATTAGCAATTAGTTTACTGACTCCAGTGGATAATCTGAGGACCATAGACTGACAGGGGCTTTGCTTCTGTTCTTGAACCTAGAGACTACATTGTTCTTCCTCAGTACAAGTGAAGAAATGGCTAAAATAAATGTAGTAGTACTGTGTGTACATTTGTTTGTGTGTGTGTGTATATATATATATACACACACATATATATATATCTGTGTGTGTCACAGATATATATATCTGTCATAAAGAATTAACTAGGCCAGGCATGGTGACTCATACATGTAATCTCAGCACTTTGCATGGTCAAGGTGGAAGGATCACTTGAGTCCAGGAGTTTGAGGCTGTAGTAAGCTATGATCACACTACTGCACCCCAGCCTGGGCAACAGAGTGAGACCATGTCTGTAAAAACAAACATCAAAACAAATGAAAAGAATTTGCTATATCATTAAATTATAAGTATTGAACAATATCATTAAATGATAACGTTTTTGAATTAATACATTTATTGTCTTATTTATCTTTATCGATAATTATGTATTTCTTTACCTTAAACTATATGTTATTATAATCATTTTAAAGATTCATTAATTTATAAAATATTCATCTTACTAGCTTCTCCAGCTCATCATTATTTAACTACAAATCTGAATTTTAACCTAATACCTAAGAATACTACGCTACACATCTTCCCAAAAGACACACCTTGCTTTTTATAGTATTTTAATTCTCATGGTAGTTGTTTCATATACATATTAGTTGGTTGTAACTGTTTTTGGGGGTTTTTCAGCCACACTTGAACAATGGCCAATTGCTTAGATCTGTTATGTTTTGAGGGATTTAAAATTTATTTATGTAGGCTGGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCTGAGGCGGGCGGAAGACCTGAGGTCAGGAGTTGGAGACCAACCTGGTCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGCACCTATAATCCCAACTACTGGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGGAGGTGGAGGTTGCAGTGATCTGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGTGAGAGACTCCGTCTCAAAAATAAATAAATAAATAAATAAAATAAAATTTATCTATGTAATATTCATTGGCTATGTTATAGTTGTGAATGTGTTTTTTTAAAGTAGGGTTTATTTTTTAGAGCAGTTGTAGGTTCATGGCAAAATTAAGCAGAAAGTATAGAGATTTCCCATACATTCCTTGCCTCCACATACTGTACAGCCTCTTTCACTATCAAAATCCTGCACCAGAGTGGTACACTTGTTAAAACTGTTCAACTTACATTGACACATCCTAATCACCTGAAGTTCATAGTTTACATTAAAGTTCACTCTTGGTATTGTACCTTATATGGATTTTGAGAAATTTAAATGACATGTGTTCACCATTCTAGTATCTTACAGAGTAGTTTCACTGCTCTTAAAATATTCTCTGCCTTATCATTCCTGCTCACTTAACCCCTGGCAAACGCTGATCCTTTTACTGCCTATAGTTTTGCCTGTTCCAAATTATATTCTAATTATATTTGTCATATAATTGGAATCATACAGTATGTCAGTATGTAGCCTTTGTAGATTGTCTTCTTTCACTTACTATTGTACGTTTAAGGTTCTTTCATGTTTTTTTCATGGTGTAATATCTCATTTCTTTTTAATGTTGATTAAAATTCCTTTATCTGGAGGACCACAGTTTATCCATTCGGCATCTACTGAAGGAAATCTTGGTTGCTTCCAAGTTTTGACAGTTATGAATAAAGCAGCTGTAAACATCCATATGCAGGTTTTTGTGTAGACATAACATTTCAACACATTTAGGTAAATACCAAGGAAGGCAATTTCTGGATCATATGGTAAGAATATGTTTTGTTTTGTAAGAAACCGCTAACCTGCCTTCCAAAGTGGCTGTACCCTTTTGCATTCCTGCCAGCAATTAATGAGGGTTTCTGTTGCTCAACATCCTTACCATTATTTGGTGCTGTCAGTGTTTTGGATTTTGGCCTTTCTCATAGGTGTATAGTAGTGACTTATTTTAATTTGCCTTTTTCTGATGACATATGATGTGGAACTTTTTTTTACATGGTCACATGTTTGTTTTTGTTAATTCACTTAATCAAGAAATAGTTATTGAGTACTACACACACACACACATGCACATCCCCAATATATACTTTTATAAAAGAAATTTTACGTATGTAGGTGTGATTTTCTTGTAGGCAAGGAAATAACTTGCTTGTAGTACTTACAGGAAGGTCTTTTCATTGTATGTATGTTTTGTATAAATTGTGACTTAATCTCATATTTATCCCAACCTGTAGGTTTATAATTACACATACATATAATACTAGATGTAAAGTATTACAATATGGGAAAAGCTATATAAATTATCTGTTAAAACTTGGTAGGAAGGTTTGTGCTTAATAGATGGCTTCTTTTTGTTAATAAACATTTAGTGGGTTTTTTAAAAAACGCAAATGATACAAGCTTATTTTTAGAAAATTTGCAAAATACACATAAGAATAAAGAAAACAAAAAGGACCTATAATCTTAAAATTAAATCACTGATTAAAATTTTGCTATTTTAATGTGTTTTTGCAGATGTTTATCCATATATGTATGTTTTTATAAACATCTTCCTCCTCCTTCTACAAAATGGATTATGCTGTATATATTTTGTTTTGATTATTATTTATGATAGACTTTTGGATATTGTTATATAAGGTTTCCCTCTGTTATAAACAATCTTTCAATGACTGTCCTTATTTCTTATTAGGAGCACATACGTGATCCCTTTGCTTAAATTTCTAGAAGTGAAATTTCTTTATATAAGGACATGTAGAGTGTTAAGGAACACATAAAATGCCCTCCAAAAAAGACAGAGTCAATTTCATTCTCAACAGCAATCTATTCGAGTTTTAAATCTCTGAACCTTATTTATACCAGGTATTTTATAAAGTACTTGGCCTTACAATTCTTATTTTAACATATGCCACTTAATTTTTTAAATTACAAGTTATTCATGCTCTTTGTAATAGCCAAATAATGTATACATATAAATAAAGAAAAAAAAGTCTCCTTTTCAGTCTCTCCCCAACTTGTTACCCCCTTTTAGACCTTATATAACAGGTGTTAAAAATTTGGTTTTATTCTTCACAAATTTATTTGTGCTCATATAGTTATACAAAGTGTGTGTTCAAATTTTATCATGTATGGCTTTTTGTATTCAATTTTTTAAAAATTTAGCTCCAATTTTATTTTAATGTGGGTAATTTCCTTCGGTTTTTCTTTCATTTTACTTATATTTTACAAATTTTTCTTCATCTGGGTCTAATTTAAACAATTATAAAGTTCTCTCCCCCTCCTTCATCTGCCTTTTTCAGAAGCGCTGTATACTTCTGGGATGTTTAGTCCCTTCTTACATTCTTGAGTATTTAATGATACTTGTATTAGAGTCTCTTTCAGATTGTTCTATTATCTGAAATTCTTAACATTTTAGTCTTCTTTTCTGATGTGTCTAATGACCCTTGCTTATAGTGGATTGTTTTCTCCTGCTGATAATTTTGGACCGTGAACCCATCTTCAGTGATACTTTATCTTTTGGAGTTCTTTGAGAACAGGGTTAGGGGAGTAGTTCTCTAAAGCAAGCTTGCCTCGACTCTTACCAGGTAACCTAGTGACATCATGATTAGTTCTGTTGTTTAGGGACTCCCTGTCAGTCCATTGTTAAAATTTATGCCTTAAGTCTGTGCTCGGCACAAGTATGATGTTTAATTTTTTCAGAGGACGCTTTTCTTTTCCCCAGATTCCAGGTATATTTGTTGCTTCTTGTGAGCATGGGCACTTTTTTCTGGTTCATATTTTTGCTGATAATGTAATTCTTTAAGGGCCCAAGTTTTAGAAAGAAAGAAATCTCATTGTTAATATTTCTCCTTATGTTGGCTCTGGTAGGTTGTGCCCTAGGTTACCATGACTGTTTTCCTCTAAGGCAGCCATAGCTGGTTTTAATGCCACTCTGGTTTTCAATTCCCTCTTTTTTTCTGATGCTTGAGGACCTTTTATCCAAGATTTTAGGTATTTGTAGCTGGAATGTTTTGAAAATTAGTCTTTCATCTTCCATTTTGCTAGAACTGAGTCACCAATTGCTGATTTTCTATCTTAATTTCCTGCAAGTTGGTAATTGTGTTCCATAGACAAAAAGATTAATAATGATTAAATAAAATGTAGGATCTGTTTTATTCATTATTAGTACTAATAAAATGATAATAACTAATGTTTATTGGGCTTTTAGAGTGTCCTAGGTACCATGCTAAGTGCTTCAGATACATTATCTAATCTAATTATTAAAATAATGCAGTGAGGTAGATAGTATTTAATATTATTGTCCCCTGTTACAGAGAAGGAAACTGAGGTCAAGAGAGATGATGTAATTTGTTTCTGGCTAAGGTCACCTGGCTAGTAAAATAGGAGGGATGGAATTTATATCCAGTTTCTTGATTCTGGACCTGTGTGGGTTCTTTTTTCTTTTTTTTGACACGGAGTTTCACTCTTGCTGCCAAGGCTGGAGTATGCAATGGGGAGATCTTGGCTCACTGCAATCTCCGCCTCCAGAGTTGAAGTGATTCTCCTGCCTCGGCCTCCTGAGTAGCTGGAACTATAGGCGCATGCCATCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGATTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAATTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCCTGTGTGGGTTCTTAATGCCCATGTAATGAGACTGTTCTTATAAGAAATACTTGTTATCCACCTGCCTATTGTAGGCAATAGGGTTGCAGTGGAGAACAAGGCCTACCCAGTCTCATGGAGAGTAGAGTTAGTATACTGTGTGGATTAAAAACATTCTTCCCATAAATGGAAACAAGTTCGTTTATTTCCACAACATTTAAAAGATGAAAACATCAAATCTTATTTTGCATAGGTACCCTGTATTTAAGAGTGGTGTTTTTGATACATCATGTTACAATTATATCTTATCCATTTCCATACTATATGTCTGACACAGTATTGTTTTACCAGAAAGATGTTTTATTATATTTTAATAAAGACATAATTTTATTTACTCAATTTTGTATGCCATATATAAACTTGTGGCTCTTATTTAATTTAATATGTTCTTAAAAATTGAACCAGTTCTTACTTATGGAAAATAATTAGTTTTCAGTTCTTTGTAAATATATTATTTAATTTCAAAGAGTTGAAGTCAAAGAGTATGATCCTCCTAAGACTACCGGCAGTGGAATGTATGCGGCGTATTATTGAATTCACTTCCTACATTCTTCGACTTTGTTTCTTCCTTCTTTCTTTTTATTTTGTCTTTTAGATTGCTCCTGAAAGTCTGAATCTTAATTTCTACCTTATTTTTCTATCTTCCCTTCTTTTTTTCCTCCTTCCTTTACTGAGAAATTTCTGAGCATAATCTGTGTTGTAGTTTTCTGATAAAGTAGATACGACCTTCTCCTTTGATAACTCTCATTCTATGTGATTGGTGTCTTTTTGATACCTATTTATTGACAGCCTGTTTTTGGTTCTGCTTTCGTTTTACCTGTGAAGTACTGGGTTATCTGATAGTTTTTTCTGTATTATCTAACCTCAATTAGTTACTCATGTTTTAACTTTCTAAGTGATAACACATTGAAGGAATTATTTGTTGTTTGGACTTATTTGGTATAACTTTTCTTCTTGTGTGGAAAATGAAGAGTTCACTACAGTTTCCTGTTTGATTTAGGAAATTAATCTATCTAGTAAGGAGAAAATAGTTGTCATAATTGCATGTAGTCACCCATATGTTTAAACCTACACAGTGACAAACTGAAGATTGCTAATGCATGGAGTGGATTTGGTGGATGATGACTAATCAAATTTCACAACTATATTAATGTTTCACCTGGCTAAGTTAGTTTTGTTTTGTTTTTTAATGACATGGGCCCACTGCATAATTGTTAGTGCTTTCTCCAAAAATGTGATCACTTACTTACTCTGACCCCACCCCTGACTTGAAGTGTCTCTAAGATGTAGAAAGCAATCTGAATAGTAATTTCTTACATCGATAAAAAAGTAGGTCATATGAAGACAGAATAGAGATTTTTGTGTGCCAAATTTTAACGACTATGCTTTTCCAAAGACACAAATTTTTAAAAGGCAAGATAATATCTGTTATTCTTTGCAGGCTGATCAGTTGATGTTCGCTTTGCATTTTGTTCGAGGCATGCATCCTGAACTTTTTCAAGAAAATGTAAGTCAAATTAAAGGAGAGAAATTTTACAGTAACATAGAAATTTGTTAATGGGTGGATTTATGTTTAGATTAGAAATTATTTAGGCTAGAAATTATATATCAACCTATTAATCTTTTACTAAGTTAGAAATGTAGTATAAAATGGTGATTCCTAGTTCTACTTCCCTGTGGATGAGCCTAACATTCCAGAGTGATGGTAAAGCAGGGAAAGAAATCTACAAAGCTGCCTACATTTTTCTGAACCCAAGTTCACTTACTTAGGGCAACAGAAGAGTCAGCCTTCTTCTTTTCCCGGCCTAGGTAGTAGAGCTCATATAGAAAAAGTGAGACAATATTGGTACAAAACTACATTATTTATTGCTTCCACTGAACTGTCAAGAGGCAGCAGGTGAGGCATGAAGATGGGCAGTTCTCAGAAGTTTTCCTGAACCTACAGGTTTATGTTAATTTTTTTATGTATAATTTGTCTTCCTTGTTTATGATCTCATTTCTAGTCTGCCATGTAACCCCTTCTCAAACTTTAAAAGGACCTCCCTTGAGCTGGAGCTAACGAGACCATTTCTTGTCTGCTTACAATTTTAAAAAAAAAGCTATTTGCAAGTAATTTTTCTCATTATGATGCTGTTATCATAAAGTGAGATTCCAGTAGCCAGGGTGTCAAGGGATGGTATATGGACAGTGCAACTTTGACTTACTTTACTCTACTTAGTCAAATTTTAACTATTTTCTGGTTCCTTTCATTTGAATATAATAGTTAAAATAATGCAGACCATTCACAGTTCATATGTTCTCCCTTTGTTTTTCTCTGACTCCACATGCACTGACATGTATAGTTTCTGCTGAATTTATTAATTTGGTCCAGTTTATTCCTGCTGTTAACTTTGATTTCTTTTCCTCCTCTTATCTAATATTTTTCACTATGATCAGTATGTTCCATGAAATATATATATTCCTTATTTTTCTCTCCTAAAGTATAAACAAATTGTCATTGGGAAAGGAGAACACTTTTCTCTGACTCACATAATGTAGTAGTAATCATTCATATTTTACTTATTTGTGGCTGCATAATTGTAATAGGAAGAGTGTGTGGCCAGGGTGAGTGAAGCCAGAAAATATGTTGCTTTGGTAGTTTTTCCACATTGCTCTCAAATTTTCATATATTTTGCTTATTTACTGGCCCGTGTGTGACAGTAGTCACACAAATAGTACCTATTATTGTCTAACTTGGGGATGCCATGGGGAAGGTGTAGATTTTCTTGGCACTGGATTCTGCAACACTTGATTAATCTTAATTCTATGGCAAAAAAAAAAAAAAGATTAATGGCATCTTCTCCCAATCAGTGAGAAAAAAATGCGTTAATGGAATTACTTTTCTCAATATTTCCTACCAGATACCATTTTTAAGTTTTTGGGTGCACCTTACTTCTACTTATTAGCAACAAATAGCCTGTGGGAAAACAATTAACAGGTAGTGACAAATGTTAAGTGAACATGACATTTAAATTTTTAGACATTGAGACTCATATATATAATGGAGTTGTTTTGTTTTAATAAAATTATTCTTAGTAGATTTCATATTAATATTTTATGTTGTCACATTAATTCATTCTTGATAATGTTAACATACTAGAAGAAGTGGTAAGATGGAAATGAGTATCTGCTTAGAAAAATGCATTTTAAGCCATCTTATAAGGAAAGTTAGACAATTTTGTTAACTGGTTATCATTTTTATATTTTTGTGTTCCTATATTTTTATTCAATAGGAATGGGATACGTTTACAGGTGTGGTTGTTGGAGACATGTTACGGAAAGCTGTAAGTTAAAATAACAAAATCTATTTTGCTCTTAAAGAAAATATTTCTGGCTTTTTGTTCATGAGGTATAATTTGCTTCAGAGGTGTTCTAAATTATTGTTGAAGTTATAATTTGATTAGAAGAATATATTCTGGCCTCTTAAGTATTTCCTATAAAATAGACAAGTATATTTGTTTACTTTGAAGACATATATTCTGAGAATAATATGTCATACTAATGAATTAATGCAGTTTCTTTTTCTCAGTATATGTATTTTATTCCAAGGATATTTTATAATCTTTAAGAAAATCAAATCTTATAACTTGAAAATTTTTCTTATATACTTGGAGTTTTAAAATTACATTTTAGAACTTTTTAATAACTTCATTCAAATTTAGCTTTTTTTCCTACTAATTTCCTATTTGAATACATAATGAATAATAGTCTTCCAGCAGTACACCCAAAATATAACACGGAACATAGATCATGTCTGAAATGTAAGATATAATTTTAAAAAATGTAATTTTTATGACAGTTCCTCATGACATTTGAGTTTTTCTGAAGTTTCATGAAAGATTAAGCACAATGAAAAAATGATTGCAACATTTTCCTAAATGGTTCTCAGTCCCTTATGTTACATAGAATTTTACCATGGTGACTTGTAAAATACATAAAAATATAAAGAAATAATGCATAGAATGAATTTTTTTCAAAATAATAAAATAGCTAATCAATTGCTATTTTTTAAACTCTGAATTTTACCAAGTATACTAAGGAAAATAATTGCTTTTATTAAAGGACTCTCAACAAAAAATACGTGATCAGCTTCCGTCTTGGATAGATCAGGAACGAAGCTGGGCCGTGGCAACATTAAAGGTATTCCTTTTCTACTATGAGACATGTTTTAATTTCTTCTGTATTTGCATTGTTTCTGTTGATACTTTGTGCTCCTTATTCGTAATCAGTGTTAACATTTTTAATAGGATGTAAGTTCCCCCAGTAAAAAGTTACCAAAGAATTATTGTAATTAGTCCTTTAACCAGTAATTATTAAACCTTTCATTTATGAAATAGCATGCCTTCCAAATACAGTATTTTCTTTCTCTCCCTTCCCACCCCAGCCACCATGGTAAGTTAGGCTATGAGAATGGTGACATGGGGGAAGAAAAAGCAGTTTAGAAGCTTAACTCTCAACAATTCTGTGTTCTTCAACTACTCAGGCTAAAATGTTGTTTTTGTGGGGAATGAAAGACAAGTCTATGCATATGTTTCCATCCTTCCGTTCCTTCCCCTGCTTTTCTTCACAACTGTTGTATCATTATAACAGCACCTGATAAAAACAGTAAGAATAGCTAGCATTTACTGATGGCTTACTATGTTCAAGGCATTATACAGAATTTTAAAATGTATTATCTCACTAAATATTTTCAATAACATCATGAGGTAGCTATTGTAATTTTCCTTGTGTCACAGATGAGGAAATTAAGGCACATAGAGATATAGTAACTTGTTTATGGTCACTTAGGAAGTAGAGCCAGGATTTAAAACTATGTTTCTTGTTGCATAGTCTGGGCTTTTCACCACTACTCTTTACTGCCTTCATTTCATAAACATTGGTTGAGTAAAAGAAATGAAAAAAAGGGGGGGGAATTCTGCTATATATCCTCCATTTTTTTTTCATTAATCATTTATTTGGTGCTTACTACCAGTTGGCATAATGCTAGTGACAGTCTTTACTTGACCAAACTTTAGTCAGGCTCTTGAACCTTCTTCTAGGCCCACCTGTGCACTTCCTTGTAAAAGCTACTTTTAACAGAACCCTGCAAAGTTGGTTTAGTGAGAATTTCTTAATCTTCCATATCTGATTACCCTTGAAATCTAATCAGATTCCTCATTCCCCACCATTCCCCAGGTGATTCTGATGACTTCGGCCTGTCTTCAGCAAGAATCCCATTAGGTTGGTTTAGCCAGAAATCCCTGTACCCCTGATATTTCCTCTTAGTAATTTTCCATCCACTGACCTCACTTTGCTCCTTGGCTATAAATTTCCACTTGCCTATGCTATATTCAAAATTGAGCCCTGCTCTGTACTGAAGTCTCTTTTCGCCTATTGCTTCCTCTATTGTAATAGTCCTGAAAAAAAATCTGTTTTTAATGCTTTAACTACTGACAAGCTCTGGTTTTTTGTTCATACCAGTGGAATGACAGGTGTATTAAGAGACTCTGCCATGAACAAACTTACATTGTAGAGAGCATATCAAATAATTACCTTGTCATAATGGTTGACAGTATACAAGGTAGCCAAATACATGATGATAATATAATGTGTAGCACACCTACATTAGCAATGATGGGGCCTTGTATACTAAATGTCAATAAAGTTAACAGACCACCATCAAGCATTACTTTAATAGGCTTAGATCATTTATTAAAAAGTAATTAAATTGAAATGTAATTTATTTTCTGCTATTTAATTTAAGTTACATAATGAAATTTGGGCAATATAATGGATTATTTTTATATGAATATAAATGTTTGGATAATGCATTTTTTATATACTTGATTTATGTTCATATTATATGAAGTTCTATACTGAAGATATAGATCTTCTAAATTTCTCATTTGTTTTCAATGAAAATTCTTCACCTTTACAGATTTACATTTCTGATCTTACACCGCACTCTTGAAAAATTTGGGAAAAGAGAACACTGTTTGAGGTAGAGGGATTAATGTGTTTGGGAAAGCCTCTGAAAGATGATATTGTTTAAAGTGAATATTGAACGTGGAATAGAAATTTGTGAGGTAGCAAAGAGGGTTAGAACATTTAGAGACAAATAGAGGCATTTACAAATAGAGACATAAACAAATAGGGTTTAGAAAAACATTCTTTGTTTTTGGATTTGATACTGTTTTAGAAAAACAGAGCTTGACAGAGTTTAAAACTGAAGATAAGTTTTATTGCCATAGGGGAAAAGAGATGTCAGTATAGTACTGGGCTCAATTCTGAATATAGCATGGACAAGTGGGAATTTGTACCCAAGAAGCAGGGTAAGGATTAGTGCTGGGGGTCAGTGAATAGAAAACTATTAAGTGGAAATGTCAGTGGCAAGTGGGGATTCTGGCTAAACTGATTTAGCTGGTGAAGGCAGATCAAGATGATCAGACACCAACAGATAACAAGGGTGGGAGAGGAGGAATTTTTCTTTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTATCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACTTCTGCCTCCCGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGTGATCACAGGCGCCCACCACCAGCCTGACTAATTTTTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGCCAGGCTGGTGTCAAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACTGTGCCCGGCTGAGAGGAGGAATTTGATTAGATATTCAAGGTAGGGATTCTTGCTAAAGTTACTTAGCAAAATTCTTATTAAAATAGGATACAAGGCAGGACACAAAGCCCCTGATTGAGGCCTAGTCAAAGAGAGCTCAGAGGAGCCTGACCGAAGTTTTGACAAAGAGAGTCTTTGTTAATATGAAATTTGACATACTTAACTTGACAATCCTTAAAATTTGCACTTGATCTTAATGACAGCACTTGTTTCCTTCACAAGGTGGAGATAGCTAGGTACAAATGTTTTTACATAGAGAAAAGATTAACTCATGAGTACTGATTTAGTACTACTTTGGAAGTGTATTTTAATTCTGGCTTTAATATTAGGTGAGTTTACCATAGAGTTGCCAACCTAGAAATAATTAGACAAGGCAACACAAAGTAGAAGAGTAATAAACATCAACCAATAATTGGTTCTCACTTTTAGTTTTTTTAAAAATAAATGTATGTGCTTATATTTGCTTATAGCTCACTGTATATGGCCATTTTTATTTTTTAGATTGCTCTCCCCAGTCTTTATCAGACCCTCTGCTTTGAAGATGCAGCTCTGTGGCGTACTTATTATAATAATTCAATGTGTGAGCAAGAGTTTCCATCTATCCTTGCAAAGAAAGTTTCCTTATTTCAGCAGGTAAAATTTAGTGTTATCTAAATGCAAAAAAGTGTTTAATGTTTCTCTTATTATTCAGAAGCCATTTAAAGGAAAGCTTTGCTTTTAGAGTGTTACTTTACCTTTAATGGCGTATTTGGGGAAGGGCTTGATCCTTTTGCCACCTTATTGACAATTAAATCACGCCAAAGTTTCTGGGTCTGGTTTCTCTCTCACTGTGGCTTTTTTTATTCCTTTTGTCTCAGACCCGAGGGGGATTTTGTAATAGGAAAAATGTATTTCAGAAAGAAACTAAGGTACAAATTGTACAAGTTTTACAATCATTTCCCAGAGTTATTTTTAAGGAAAAGACCTAATAGTGAGTAACAGGGGATTTTTCCCATTCTATTTTAAAATAGAATGTTGAAACCTACTGGCAGGTTCCGCTCAAACTTTTTTGCTAGTCAAAAAGCTTAGAGTGGGAGAGCTCTTCAGAAGTTGATGCTCCAGAAAATGACCTTTCCATTTATCTCTTCTCTGGATCTAACCCCTTTGTGTCTCCATATACAGTGAATTCTATTTCCCCAAAAGTGCTTAAACAAAAAGGAAAATGACTAAGAAAAAATTGATTTGAAAACTTAAACATCTAGGAATATCATAGATATGCATGAATCAGTAGTCCCAGCTACTTGGGAAGCTGAGGTGGAAGGATCACATGAGCTCAGGATTCGAGGCAGCAGTGAGATGTGATTGCACCACTGCACTCCAGCCTGGGTGACAGGGCAAGATGCTATTTCTATTTTTTTTTTAAACGTAAAAATAGTGATTTGAAAATTTTAGGGAGGATTTCTGGTTTCTGGGCCTCTGTTTGCTGTCAACAGAAATGCCTCATCTACGTACCATGATTTTCACCTGCCATTTAGCCTTTTATTAGATCCAGAAGATGTTTCTAACCCTGTTTACTTTTGATGATAGGCTTGAGGAAGTAAATGGATTTCAGTAATATTTTTGATATATACTTGCTATATACCTATTGTGACAGTTTAAAGCACAGTAAATAATATGGAACAATGATAAGTGTTCCCATATTTAGTAAACATTTGTTTAATTAGTTAACATTAATTATTGTTTAGTTAAAGTAGTTGCAGCAACTTTATTCTTTAAAAATATTCTGCATTTTATTTTAAGATTCTTGTAGTACAGGCGCTAAGACCGGACAGATTGCAAAGTGCCATGGCTCTTTTTGCATGTAAAACTCTGGGTAAGTGTGATGCTTTTCAAGAACTAGACCACTGACCTGAATTATTTGTTTTTAATTTACCTTTCATTTTATGTTAGCCTGAGTTTAGAAATGTTATAATGTCTCTTTTATTCATTCTGTTTATTTATCTTCCAATCTCTACCTGTTTTAGAAAAATAATTCTCGGCTGGGCATGGTGGCTCATTCTGTAACTGCCCAACAGGTTCAACTTGCCTGCTGCCTAGACAGAGCTGATTTAGCAAGACAGGAGAATTGCCATGGAGAAAGAGTAATTCACACAGAGCCGGCTGTGTGGGAGACCGGAGTTTTATTATTACTCAAATCAGTCTCCCTGAGCATTGGGGGTTACTATTTAAAGATGATTTGGTGGGTAGGGGCTTGGGAAGTGGGAAGTGCTGATTGGTCAGGTTGGAGATGGAATCATAGGGGTTTTCAAGCGAGGTTTTCTTGCTGTCTTCTGTTTCTAGGTGGGATCACAGAAATGGTTAGGTTTTACAGTAGTGGTGTTATCCCCAGGAGCCATTTGGAGATGTTCAGACTCTTGCAGCCACAGGCTGCATTACCCCTAAACCATAATTTCTGATTTTGTAGCTAATTTGTTAGTCTGCAAAGGCAGACTAGCCCCCAGGCAAGAAGGGGGTCTTTTTGAAAAAGGGCTGTTATGAATTTTGTTTCAGAGTCGAATCGAAACCACCTTTGCAAAAATTAAAACTGAGGTAATTATGACAGTGAAAGAGCTCAGGCCAAACTGACTCCATCTTGCTTCTAACCTATAAGCTATCCTTGTTCATTCTTGGGCACAGGCAGAACTAACCTTGGGAAGGAATTTAGTTTATGGTTTGACTCTGAAACAATATTGATAATAGCCCTTTCCCAAAAAGACCCACTTCTTGCCTGGGGATAAGTCTGCCTTTGTAGGACTAGTAGGTTCGCTATGAGATTAGAAATTATGGTTTAGGTACTGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAAACGGGCAGATCACTCGAGGTCAGGAGTTCAAGACCAACCTGCCCTACATGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAGTAAAAGAAAGATTAGCCAGGCATGGTGGCGAGTGCCTGTAATCCCAGCTCCTCGGGAGGCTGAGGCAGGAGAAATGCTGGAACCCAGGAGGCGGAGGTTGCAATGAGGAGATATCATACCGCTGCACTCCAGCCTGGGCAACAGAGCAAGACTCAATCTCAAAAAAAAAAAAAAAAGAAAGAAAATTATGGTTTAGGGGTCATGCAGCCTCGGGCTGCAAGAGTCTGAACGTCTTCAAATGGCTCCTGGGGATAACATCACTATTGTAAAACCTAAGATCAGTAGTTGAGATATTTTGCAGACCCTGCACTAGATGGATCAGCTGACACAACCTAGTCCGGTAATCTGGCTCAACCAATTCTGTGATCCCACCCAGGAATAGAAGACAGCAAGAAAACCTCACTTCACCCCCACTGTGATTCCATCTCCAATGTGACCAATCAGCACTCCCCACTTCCTAAGCCCCTACTCACCAAATCGTCTTTAAAAACTCTGATCCTGAATGCTCAGGGAGGCTGATTTAAGTAATAATAAAACCCCAGTCTCCTGCACAGCTGGCTCTGTCTTGGTAAATCAACTCTGTCTAGGCAATGGGCAAGGTGAACCCATTGGGCACTAAAAAACCATAAGCTAAATTCCTTCCCAAGGATAGTTCAGCCTACATGCAGGAATGAACAAGGTCAGCTTAAAGGCTAGAAGCAAGATGGAGTCGGTTAGGTCTGATCTCTTTCACTGTCATAATTTCCTCAGTTATAATATTTGCAAAGGTGGTTTCAGTACCTGTAATCCCAGCACATTTGGAGGCTGACGGGGGAGGATTGCTTGAGCCCAGTAGTTTGAGACCAGCCTGGGCAGCATAGTGAGACCTTGTCTTTAGTAAATATTAAAAAATGAGCCAGGCACGGTGGCATGTGCCTGTAGTTCCAGCTACTCAGGAGGCTGAAGTGGGAGGATTTCTTGAACTCAGGAGTTCAAGGTTGCAGTGAGCTGTGATTCTGTCACCACATCCCAGCGTGGACAGCAGAGCAAGACCTCATCTCAAAGAAAAAAAGAAAAATGATTCTCTTTGTTGGATATAACCCATATATAATGTTGAATTAAATTTGACATCCTATATTTAGTTACGATATTTGGACTGAGTGTTCCTCAATCCAATATGATTGGTGTCCTTACAAGAAGACATCCATGTAAAGACAGACACGCAAGGAGAGTATAATGTGATTATGAAGGCACAGATTCAAGTTGTGCAACTGCAAGCCAAGGAACACTGAAGATTTTTAGTCAACCACGAGAACCTAGGAAGAGATATGGATGTGTTCTTGTAAGGACACCAGTCATATTGGATTGAGGCACACTCTTGTCCAGTATGACCTCATTTGAAGTTAACTAATTCTATTTGCAATGGCCCTATTTTCAAAAAGGTGAACCTTTTGAGGGACAGGGGTTAGACTTCAACATATCTTTTTTTTTGGGTTGGGGGGAGACACAATTTAACCCATAACACCTACCAACCAAGCTTTTCACATAATGCCTATCTTCTGCCTCACCCATATGCACACAAATATTTTGAGTCACTTTTTAGACTGGTCACCTGGTTGGTTAATGATGAGTATATGGAAATAAGTCTGGATATGTTCTGTGCTTTTGCTTACTTATGCAGGGGGAGGAAATGTCACTATTTATTCACCTCTGATAGAATGTTTATGTACCAGATAACTTTTACTCATGTTTGGCAGAGTAATTATCCACCTTTCTTTTGGTTGCAGGTGACAGATACCCATATTAAACTCGCTTAAATGAATAAAGGGAATTTATTAGTTTAAGTATTCAGTACTCAGGAAAGAAGAGATAGGGCTGGCCTTTGGGTTAACTGGACTTAGACAACATCATGACTCAGACAATATCAGGAAACTCTGTCTTTGTCTCAATCTTGCAGTTTGTCTCTGTGTTTCTCTGCCCCCCTACTCCTATCTCTCTGTTTCTCCCTTTTTCTTTGTGTCTTTGTCTCTCTCTTCCTCTCTTGTTGCTTTTAGACTCTCATTTTAATTTCTGCATGTGTGTTGTCCTTAGTCTCAAGGGTTCATAATATTCTGGTTGATAAGACCACTAACTTGCTGAGTTATGTTTTAAAGCTTATGATGAAAGGAGAAAGATAACTTTTCCTTCCCAACTTCACCATCAAAAATCCTAGAGAAGGACTCTGATTTACTCAATTTAGGTTACATATCCACCTCTGCAACTAATCACATCAGAAATATGTGGAATTACATTTCTCCAAAAGCAGCCATGGATGGGGGAGTGGTTATTACCAGAAGTGAAGGAGGGGATGCTGGTACAAAATAATAGATATGCATGATAATCAGGCTACATATAACCTGTTTTAATGTTTATATTTATTGATAGTTTGATAGCTGACCTATTAATTTGTAAAGTGCAGCTGGGCGTGGTGGCTCATGCCTATAATTCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCGGGAGTTTGAGACCAGCCTGGACAACATGGTGAAACCCTGTCACTACTAAAAATACAAAAATTATCTGGGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGACAATTGCTTGACCCACAAGGCGAAGGGTTGCTGTGAGCTGAGATCGTGTCACTGCACTCCAGCCTGGGCTACAGAGCAAGCCTCCATCTCAATAAATAAATAAATAAATAAATAAATAATTTTTTAAAGTGCATTTTGGTAGTCTAACTCCTTTAAGAGTTATAAGTATACAACTTGATTCTGTAGCTGTTGGAGAAAATGTTCTGTAAATGTCTGTTATGTCTATTTGGTCTATAGTACAGATTAAGTCTAATGTTTCTTTGTTGATTTTCTATCTGGATGATCTGTCTAATGCTTATAGTGGAGTGTTGAAGTGCCCTGCTATTATTGTATTAGAGTCTATCTCTCTCTTTAGCTCTAATAATATTTACTTTATATCTGGATACTCCAGTGTTGGGTGTATAGATACTTAGAATTCTTAAATTCTGCTGAATTGACTTCTTTATCATTACACAATGACTTTGTTGGTCTCTTTCTATACTTTTTGTCTTGAAATCTCTTTTATCTGATATAATTATAGCTACTTCTTCTCTTTTTTGGTTTCCATTTGCATGGAATATCTTTTTCCATCTCTTCATTTTCAGTCTATATGAGTCTTTATATGTGAACTGAGTTTCTTGTAGGCAGCATAAAGTTGGGTCTTATTTTTAATCTATTCAACCACTGTTTCTCTTTTACTTGGAGAATTTAGTCCATTTATATTCAGAGTTATTATTGATAGGAAAGGACTCTGGCTATTTTAGGAAAAGACTAACTACGGCTATTTTGTTTTTTTGTTTTCTGGTTGTTTTGTTAGTGTCTTCTTCTTCTCTTTTTTTTTTTCCTTTCTTCCTGTCTTCCTTTGTGTATAAGTGATCTTCTCTGGTAGTATATTTTAACTTCTTGCTTTTTTTTATGTGTGTATGCATTATAAGTTTTTCCTTTGTGGTTACTATGAGGCTTGAAGAAAACATAACCAGTGGATTTTAAACTGATGACAACTTAACTCTGATTACAAAGAAAAGAAAAGAAAAACAAACCAAGCAAAAAGAAAAAATTTACACTTAAACTCAATTCCCTTTCCCCCATTTTGGGGATTTTTTTGGTCTCAATTTATATCTTTCTATATTGTCTATCTCTTAACAATTTATTGTAGTTAGTATTTTTGATAGGTATCTTTCAGACTTCATAATAAAGATATGAATGGTGATATACTTTGAATATACGTCCCTAGCAAATCTCATGTTGAATTGTAATCCCCAGTGTTGGAGGTGGGGCCTGGTGGGAGGTATTTGAGCCATGGGGGCAGATCCCTTGTGGCTTGGTGCTGTCCTCACAATAGTGAGTGAGTTCTCTCAAGACCTGGTTGTTTAAGCATGTGGCACCACCCTCCCTACTCTCTCTTGCTCCTCCTTTTGCCATGTAACATGCAAGCTGCTGTTCTCACCATGTGAGATGCCTGCTTCTCCTTTGCCTTCTGCCATCAGTAACAGCTCTCTTGAGGCCCCCACAGAAGCTTAGCATGTGCTGGTACCATGCTGGCAGAATCATGAGTCAATCAAATCTCTTGTCTTTTTAAATTAGCCCATCTCAGGTATTTCTTTATAGCGACACAGGAATGCCTAACACAAGTGACTTACACACCGCAATTACAGTGTTAGCATTTTATGTATTTGTCTGTATACTTACTTTTACCAGTGACTTTTATACCTTCAGATGATTTCTTGTTGCTTGAGAATCCTTTTCTTTTAAATTGAAGAATTCCCTTTATAGTTCTGGTGTTGGTGACATTTTTTAGCTTTTGTTTGCCTGGGAAAGTTTTTATTTCTTTTTTATGTTTGAAGAATGATGTTGCTGGATATAATATTCTAAGTTGGAAGCTTTTTTTTGCCTTTAGCACTCTGGATATGTCATCCCCCTCCCTCATGGCATGTGAGGGTTCCACTGAGAAATGTGCTGCCAGACATACGGAGCTTCTTTATATGTTATTTGCTTCTTTTGTCTTGCTGCTTTTAGAATCTTTTCTTTGTCCTTGGCCTTTAAGAGTGATTATTATATGCCATGAAGAAGTCTTATTTAGATAGAATCTGTTAGTGATTTTGGCTGTCTTGTACCTGGATATTCTTATCTTTCTCTATGCTAGGCAAGTTCTCTGTTATTATTTCTTTGAACAAACTTTATATCCTGATCTCTTTCTTTACATCTTCTTCAAGGCCAATAAGTTATAGATTTGTCCTTTTGAAGTTATTTTTTAGATCTTGTAGGCATACTTCATCCTTTTTATTCTTCTTTCTTTTTCTCCTCTATATTTTCATGTTTTCAAACTCACTAATTTATTCTTCTGCTTGATAAATTCTGTTATTGAGACACTGATGCATTTTTCAGTTTGTTAATTGTATTTTTCAGCTCTAGGAATTGATTGTTTTTATAAAATTATTTGAATCTCTTTATTAAATTTCTCTGATATAGGCCAGGCACAGTGGCTCACACCTGTAATCTCAGCACTTTGGGAGGCCGAGTTGGGCGGATCACTTGAGGTCAGGAATTCAACACCAGCCTGGCCAACATGGTGAAACCCCATCTGTACTAAAAACACAAAAATTAGCCAGGCATGGTGGCAGGCGCCTCTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGAGGCAGAGGTTGCACTGAGCCGAGATTACACCACTGCACTCCAGCCTGGGCTAGTGAGAGTGTCTCAAAAAATTTTTTTCTCTGATATAATTCTGATTAATTCTCTGTGTTATCTTAAAGTTCATTGCATTTCCTCAAGACAGCTGTTTTGAATTTCTTGTCGGAGAGGTTACATATCTCTGTTACTTCAAGATTGGTGACTGGTACCTTATTTAGTTCATTTGCTGAGGTCATGTTTTCTTGGATGTTTCTGATGCTTGTGGACCTTCATCATTGTCTGGACATTGAAGAGCTAGATATTTATTCCAGTCTTCAGAGTCTGGACTTGTTTTTACCTATTCTTCTTGAGAGGGCTTTCTAGGAATCCAAAGGAGACTGAGTGTTTTTACCTAAGCCTGTTTTCACTAAAGCTGTTTTAGCACTATTGGGAACCCTAAGCCCAAGAACTCTATGACTCTTGCAGACTCCTAGAAACACAGCCTTGGTGGACCTTAGGAAGATAAGGGAGAATTCTCTGGGTTCCTAGACAAAATCTTTTGCTCTCTTTCCTCTCTTTTCCCCAAGCAAAAGGATTCTTTCTCTATGCTGGGTTTCCCAGAGTTTGGGGAGAGGCAATATGGGCTCTGCCTTGACCACCGCAGCTGGCACCATGCTGAGTCATACCTGAAGCCTCAAGCCTTCCACACCAGCACAGTACTGAGGCTTGCCCAAGGCCTGTGACCACTACTGCTTGGCTGTCACTGATGTTAATTCAAGGCCTGAGGCTACTTTAGTCAGCAGGTTATAAGCCAGCAGGTTGCCTTCTGGCCCAGAATGGATCTTGAAACATCAACTAAGGAGCAAAGGCCTGGAATCATAGGCTTCAGGAATCTTCCTGGTGCTTTATTTTCCTGTGACTGGTCTTGTGTCCAATTTGCAAGACATAATCCTCTGTACTCTTCTCTTGCCTTCCTCTAAAGAGAAGGAACGTGTCCATGTGCTGCATTGCCTGGAGTTGAGGGAGTGGTGATGCAAGTACTCTTGTGGGCTGCTGCAATTGGTGTTACACTGGGTCACACCCCAAGCCCACTGCTATGGACATCAGAATAGCACCAGGGCTTGCCCAAGGACTGCAGTCACTGTGTCCTGACTGCCACTCAGATTTATTTGGGCCCTCAGGCCATTTAATTAGCTAGTGGTGAAGATGACTGGGACTTGGTTTCCTCCTTCTGAAGCAGAGGACTTCCCTCTGGCCCCGGGCTGCTGTATATGCTCCTTCCATGGGCACTGGTAGAATTCTGTCTGGTAATGAGGAGGAAATTAAAGAAAGAAAAAGAAAAAGAAATAAGCTTTCCTGTATTAGGCTGACTTATCCTAGAAGCAGCAACAGGCACAGCCCAGACCCAGGAAAAGCCTCGATAAACAACTATCTGCGAAGCTAGGACACAAAGGAATGTTCTCTGGAGACTCTCCCAGCACTCCCTCAACTTAGGGAGGAGAAAAACAAATTTTTCTTTCTCTTATGGTATGAGTTTATAGATTGCTGTTCTCTGTAACTAATAACTTCAAGTATTCTGTTTTATCTAAGTGGTACAATGAAGGTCATGAGCCATCTGAGAAGGCCTGAGCTACAGCCACCTGGGCACCATAGTGAAGGTTATGAAATAAGCCTGTGCAAGACACTAGAGCAAAACCTAGATAACAACCATCTGTGCTGAATAGCAAGGGTCATGTGTAATTCTGAGTTATGCACCTGTCACAATTTGATTAACTGCCTTTGTTCTGCCTCTCTATCCTTGCTTTCACACCACTGTAATCCTGCTTCAAGTTAGCTCACTCCCTTTTTGAAGGGTGTATAAAGGTCAAGAGCTATCTTTGTTCCGGGCCCAGTCTCAGGATGTTAATCCACTGGGTCTGAGTGCCCTCGATAAAATCCTCCTGCTTTACTCCGAGGTCTCTCTGGTCCTCCTGATTCCTGCAACAGTATTGTGTTCCGCTCAGTGACAGGACCACACTGAGTTCCAATGCAAAGTCACACTCACTTTCCTCCCCTACGCACACAGATTCTCTCTGTGCTGTGCTGCCTGTGGTTGGGGTAGGAGTGGTATAGGCAATCCAAGACTGTTCTTCTCACTCTCTTCAATGCCTCTTTACTTGTGAGTCTATTGAAATCAGCTGCTGTGATCACTCACTAGATTTTTTGGTTTGTATGAAGGTATTTTCTTGCATGGATAGTTGTTCAATTTGATGTTCCTGAAGGGGACAATTGCTGGAGGATTCTATTTGGCCATCTTGCTCTGCCTCCTTCTTAACTGTTGAGTCTAAAGACTGAAGTAGTTGGAAAAAAAGATGCTGGTGTCCATGTTTGGAAATGCTTTTGAAAATACTTTATCTTGTTACTGGAACAATTAACATGTTCCCAAATTTGGATAAACATGGTGAGTAATAACTGTATAATACACATCTAAGAATATGGAGAACAGTTGTCCCTGTATTTAGCACTAAAATTAGTTGATTGAAGTAGGCTTTTACTAGCATTTTTGAGAAAATAGAAGCAATAGGACAAAAATTCTTCATTTCCCATCAACACATCTACCATTTGCCTTAGTACTCATACTCATTCTGCTTTCCTTTCTCTGACTGTGAATGAATGTCTTTGCTGTAATCAAAGCTCAACTCATTTGCTGTTTTCTTCTTCATTTCTGCCATTATCATCTTCTCCCACATCACGAATTTCACCTTCTTTTCTGGATCTTTTTTTTTTCAGCATACAAATATATTTTACTATCTTCTGTCTTAAAAATACCTCCCTTGGTCTGAGACCCTTTTCTAGCCACTATCCTATTTTTTACTTCTTTCTAAACTCAAAATTGTTCATTTCTTTCTAGAACACATTCTTCTCTTGATTGTTATGTTTCTTTTTTCATTCCCCAACCCTCTTAGGCTGTTCCTTTTTACTTTCCTTTACTGGCTTCTTGTCTGCATGTCTTCTAAGTGTTAGAGTACTTTTCTTTTTTACTATAGTTTTACCCTGGGTTTTATTCTTTCATTATTACACATTCTCTCTGTAGGTGACCTTACCCAATCCCTGGATTTAAATATCATTCTTAAATTACTGATGCTTATATCTCTTATTTCCAGCCCTGGAATTCTAAGCTTGTATATTTAATGCTTATTTGATGTTTTTATATTAAAAACATCAAAAATAAATGTCTCAAATTTAATGTGATCAGTACAGAACTTTTGATTTTTTTATACTAGCATCTACTCAGTTGTTTAATCCAAAACCCCAAAAGTACAGTCATGTGTTGTTAAACAGTTAACAGTTTAGCAGTGTTGTTTAACAAAAGTACAGTCATGTGTTGTTAAACAGTTGTTTAACAGTTTAACAGTGTTTAACAAAAGTACAGTCGTGTTGTTTAACAGTGGGGATGCATTCTAAGAAATGTGTCAGGCAGTTTCATTGTGTGAATATCATAGAGTGTACGTAAACCTTGATTGTACACCCTCAGACACACCTAGGCTATGTAGTATAACTTATTGCTCTTAGGCTACAAACCCGTGCAGCATGTTACTGTACTGAATGCTATAGGCAATTGTAACACAGTGGTAGGTATTTGTGTCTCTAAACATAGAAAAGATACAGTAAAAATACAGCATTATAATCTTATGGAACAACCATGGTATACATGGTCCATCGTTGATTGAAAAGTCATTATGCAGCTCATGTAATTCTTTCCTCTCTTTTCTTTCTTTCTATACTCAATCTACCATCAAATTCTTTTGGTTTCAACCCTAAAACTTACTCTGAATTCATTTTATTTGCTTTATTAGTACCAACCTAATACAAGCTATCATCAGCTCTCAATTACTGCCATACCTTTTATTTGTTGTCTCTATGTTTAGAGTATATCCAGAATCCAGTCACTTCTCAGACCTTTAGGACTTTCTACCACTTTGTTTAAGCCACTTTTATATAAGCGAGATTATTACCATTCAGGCTTCTATCCTTCCCCACTTTAAGTCTATCCTCAACATAGCTGCTAAGTGCCTTTTGAAATATAAATTAGATCATATCACTTCTCTGCTCCAAGTCTTCTGATGGAATGTGACATCTCATCTTCTTCAGAATCCTTATAATGTCCTACAAGGTCTTACCCTCAGATCTTATCTCCTAACCACTCTTGACCCTTGCTCAGTTCTTTACCAACGTAATAGTCTTTTTCTTGTTTTTTTTACTGCTCTAAGTATGTTTCTGGAATATCAGAACCTTTGCACTTGCTGTTCCTATTGCTCAAACGCATGTTAAAATAAAACAGGACACTTTTCAGAGAGGTTCTTAAGAGAGGTTTTTTTTTCCTACCCATTTAGTCTTTAATATACGTTTTTTGTGCCACATGGCACATAACCTTTCTTACTGATTTTATAGTTTAACTCCCCATCAACTCTTTGAAATACTTATGGTACTATTTCATCTCCAGGTCAAATGACATTCAAGGTTTAATGGCATTAATTAAAAACCTCATATTATTTATATATTCAGATGCTTTGAAAGTTTAATACACTTTTAAAATCATACTATTTCTAAGCAAAAATTATGTTTACTATTGTATGGCTGTATGACTTTGTATTTGGTCAGGTAGCTTTATTAAATTGTTTTAATGTAAAATTGGAGTTTTTATTTCAGGAATAAGTTTTAAAAATTCAAATTACCAGAGAACAACAGGCACTTCCCTCTTTTTAATCAAATTTTAGAGCTTTGATTTTAAATGTAATTTCTCAAGCATCATTCATATGGAAAGATCTTTATTAAGTTTTAGCAATTTTTTATAATCTGTAAACCTTAAAATAGTAAGTTAAAAAGATGTATTTATGAAAGTAGTCTTGATTTGAATATTTAAATTAGCATAGCAGTCCTCAAAGCTTTTAGGGATGCCTGTTTAATATGATTCTACAAAGCAAGACTTATGTGCTGGCAAAATCTACTACGTTACTTTTTAGAAATGGTAGTGACCAGATGCAAGTATTCTTACTTCTGTAATTCTGATATAATTTTGACTTAAAATGACTATCATGAGGAGTATATTATACTATGTGTATTGAGGTATTGGAAATGTAAAGAGACATGTCCCCATACGGTGCTACAATAACTACAGTAACCAGAAATTTTTAAACGTTCTTCATCCAAAAGTTATTTTTGAACTATGCATCTTTCCTAGTTTTACAGTTCTGTACCTCTTATGGCATCATCCCATCCCATGCACCCTGCTTTCATAGCTCAATCTGTCTTATCAAGTTTGTGTCTAAAAGAAAGAAAGACATAAGGATATGTGCATTCATTTTCTGTTGCTGCTAGAAATTTATCAGGTTTAAACAATGCCCAGTTATCATCTTCTGCAGGTCAGAAACCTGATGGGCTCACCAGGTTTCTTTGCTCCAAGTTTTGGAAGCCCTGGGGAAAATCCACTTCCAAACCCATTCAGGTTCAGCCCTATTCAGTTTTAGGAGTGAGGTCCCCATTTTCTTTCTGTCTTTTGGTGTCATTCTCAGCTTTTGGATGCCAGTTGGTATCTAGCCTTCCTCCATCCTTAAAGCCAACATTAGCAGATCGATTCCTTTGCATGCTTCATATCACTCCTGTTTCTCTTTTCTGCTACACTTCTTTGACTCTAACAAGAGAAACTGCTCCGCTTTCAAGGGGTCAATTGATTAGCTTGGCCCACCTGAATAACACAGGATAATCTTCTTACTTTTAGGTTCATGACCTTAGTTACATTTGCAAAGTCCCTTCACAGCAGTACTTAGTTTAGTTTTTGATTGAATAACCAGGGCTTAGGATTCTTGAAAGAGGTATCTTTAGAATTCTGCCTACCACAATATATTTGACATTTTTACTTGTTTCTAGGGTTCAGTACTATTCCATTTCTAAAGTGCAGTTTCCCATTTAATTGGTTCATATATATTGGGTTAGGTAGTGGCTGTTGATTTTCCTCTTTTTATTGATGTTTGTGGTACATTTTTACAATTGTTTTCTCATAAAAGAAAGGTAATTTTATACATCTGATACTTATCAGCTCTTTGTTATGGAGGATGAGAGGAATTAAAAAGAATGAATCTATTATACTTACTACGTATAATAGTTTTGATAATTTGCCACTTTCTTTACTCAGGTACCTGCAAAGTACGGGAGTCAATTTGTTCCTTTTTGAACTGCAAGTTGTTTCTTTTTTGTTATCTCAGTATTGTATTTGCATAAAATAAAAAACAATAAAGGTTTCAGTTATTCGTTTGTCTTATTCTTATTTTTTTGAAGGAAGTGCTGTATTTATTTTTTAAATTATGGTCAGAATATAAAGTTCCAGTGATTTCCAAATAGTTTTACATGATAATTCACAGTGCAATTATTATTTTTGGCTCTCTAACTATATTAAATAGTTTTGAATGATTCATATTGATGATTCTGATGGTATCATGAATCAGAATTATTTGGATTGATAAAACCAGTATACTCAGTTCACTTAAAGTGCAACAGAAATTTTGCTGGAGTTTTGTGGGCAGGATGGCTAACATATAATTCCAAGTAACATGAATGTCACCTGTGTTATATTAAATGGCAAGGTATTTTTCATGATTTTTTTCTCCAACTCAAAATGTTTTATTGCTTTGAAATATTGTGTAAAATGAATTAATGGACATATATTTATATCCTGTGGGATTTTAAAATTAAAAGTTATAATTGAATTTACTAGGCTCTGGATAATAAAGTAGTGAAAGATTCAGTATGATTCTTGCCCTCATGAAGTTTACAGTGTACATTGGTTAAATAAACAAGTGGTATGGTAATCTGCATTTTAGCTTTTTTAGACAGTTTTTGTACTGGCATGTATTTTCCAAATAAAATACACTTAAGTCAGTAAGTAGTTATTTTAAATGTAAATATTTTATATATATTTTGACATTTTTATTGTATAATACATGGTAATTACAGGAGTATCAGAAAATGCATAGACATGAAAAGAAAATGAGAAACACCTGGTATTCCATCATTAACACTAATCATTGTTAACGTTTCTATGTATGCCTTTGCTTTCTTTTTATGCACATAGAAGTGTATACATTACAATATGGAATTATTGCCAAATCTCTTGAATGGTCTGATTTTTCTGTAAATTATCTTTTACCTCAACATGTTTGTAACTTCAGTTTTAATGTATGGCTATCAGAAATTACTCAGACTCCTGTTAGAAACTCAGTTTCTTTCTACCAGTTTTTAGCTAATATCAACAGCTACAATGAAAAGCCCTTGTACATGCTTCTGCGTCCATATCCTGAATTGTTTCTTAAGTTATTCTAATTTTAATTACTGATCAAGGCCATGTACATTTTTAAGACTTTTGATACACTTTATTAAATCAGACAATATATTTAATTGGCCTAGATGTTTATTGAGTTAATGAATAAATAACTGAATGCTTGAATCAATGGAAATATTTCTTACTGCATTGCAAGTATGTAAGAATTCTTTATTGCTAAATTTAAATTGCTAACAATTGAATAGTTGTTAGCAATTTAAACTTAGTTAAAAAGAAAATTTATAAAATATGCCTCTAAAAGCAATTCATCAATTTTAAGTGGCTCTTGGAGTAAATTTCACCTGTTATTAGGAATATTTCTGCCTTTGGAAATTCTTAGCATTATGGGTAGTTGTTGTGAAGAACAGACAAGGGTGCTGCTTTAGGCGTGAAATGTACCTTTTCTGGTTGGCTATCTAGAATTGTCTCTTTTGACCCATCATGATAACACAGAGTTTATATTTTAAAGTGTTTATTATTCTTAATTCTTTAAGGATGTCCATATCTGAGGTGCAGTCTTGTCTATTCACTTCTATTTTTGAGAATATATGGAAGCCTTTCTTGCCCATGTACTCATTCAGTTACATTCTCCTAATTTTTCGTTTATTTTTAAACTCCTGTGTAACACTCATTTTAGCTCAATTCAAACAAGTATATTTTAAATTATTAATTGACATGAGCCTTTTCAGTTTGGCCTTTATGAAATATATTAATAATGGAAACTTTCAAGTTTTAGCAGAAGAGATTTAAATATAATAGCAAAATTATAATCTCTTATCTGAATAGGACTTTATAGTTTGTGAAGGGCTACAGAGCAGAAAAATCACAGATGAATTGTTTAAATATAGTTAATGGTGGCAGCTGGGTGCCCTTTGGCAAGATAATCAATTTCTTTGAGTATTAGTTTTCTTACCTATAAAATTAATATAGTGATATTTGTTTCTCAGGAGCATTGTATGGTTTATATATCATTTAAATAAACTACCCAGTATAATGCTTAGTATTCAGTAGGTGATGAATAAATAGAATTTGTTACAATTATTATACTTATTTTGCTTCCAGAGTACCTGTGGATTGCTTTATCCTTGTTTTGCAATTGAGGAAACTGAGGCACAGTGCATTTTAATGATTTGCATAGAGTCATTTGGCTAACAAATATAAACTGACAGCTATGTACTTCTGTCTTAAATGAAGCATTCTTTTCACTCTCCATACAACTTTTTTTCCCCATAACACATGGGCATAAGAAATAACTTTTTGGCCTATATCATGCCAGTGAAATCATTTACTCAGATCATGAGAAATCTGATTCCCCATATGCGTGACACAGAGTAGGCACTCAACTATCATATCAGTTAATGAATTGTATTGTACTAATGAGATATATAGATTGATGGTTGGGTTCAGTCTTCTCTTGCATTGTGGTCTCAATTTACAGTACAGCTACAGGCCTGTATTGTGGTCTCAATTTACAACACAGATGTTAAATGTGGTAATCAGGGTACCTACCTCATAGCATTGTAATAAGAAGATGATATCATACGTGGAAAACATTTAGAAAAATGCCCGGCACCTTAAGCATAAAACAGATGTTGGCTATTACTAGTATATTATTTTAGAGTAGAAAAACTTTAATGTATTATGAGATTACAACTCACCTGGGTATTCTCTATTATATATCATATAATTAGATTTAATAAACTTTTTAATAATGCATACTGCTTTTATTTTTAATTTTTAAAATATATATTTTAGGACTGAAAGAGGTGTCCCCACTGCCTCTAAATCTCAAACGTTTATACAAAGAGACACTGGAAATTGAACCCATCTTGATAATTATTTCTCCGGGTGCTGATCCTTCTCAGGAACTTCAAGAACTAGCTAATGCTGAAAGAAGCGGAGAGTGTTATCACCAGGTAAGTACATATTGTCCCGCTGTTTTTGTTTTTGCTATTGCTGTTCCCACACTTGATGATATTGGTCAAATGGACATTTTTTGTTGTGATAAGCCAAATAATGCCCCCAAAAATGTCTATGTCCTAATCCTCAGAACTGTGGATATGTTATTTTCCATGGCAAAAGGAACTTTGCTGATGTAATTGAGGATCTTCAGATGGGAAGAGTAGCCTGGATTAGCCAGGTGGACCCAATATAAAATCACAAAGGTTTTTTATAAGAGGGAGGCAGGTGAGTCGAGAGTGCAGCTAGGAGATATGATGATAGAAGTAGAGGTCAGAGAAGTGAGAAGGTGCTGTGCTACTGGCTTTGAAGATGGAGGAACGGGCCATAAGGAAAGAAATGTAGGTGGCTTTCAGAAACTGGAAAAAACAAGGGAAGAATTATCTTTTAGAGCCTTTAGAAAGAACATAGCCCTATAGTAGTACCTTTGTTTTCAAACTCAGACCCTTGATTTTAGACCAGTGAAACTTCTGGCCGCCAGAAGTCTGATGGTAATTTAAGGCACTAAATCTGTTGTAATTTCTTAAAGCAGTTATAGGAAATTCATACATTTGCTACCATTTTGAGAATTATTTTTAAAATTTTACTTGGATGCTTTTATAATAAATCACAGTAATGTTTATTTACACTTTATTTACCTGACCTGAAAGAAATCCAGAAAATCTTGAGTAAAATGTATTCATTGTAATGCCATTTTTTTTTTCCCTGAGGTAGGAACTTTTGTTTGTTCAGGGTGCCTTTTTTTCAATTTGCATGTAAATTTGAAAATGAAATGTATTAATTCACCCTCAATTTTTAAGAAGTGAATACATCTTTTTCACAGGGAAAATAGTTAATAATGATTTTTTAAACAACTGAATACTTCATAGCAACCAAAAATTGAAAAGTGAAAATTCTACAAAGAAAAATATAAATGAAAGATAGCAAAATAGCAGCGCTGTTAGGCTCAGGTGTGAAGGTTTTGCACTAAGTCTAGAGAGTTCTAGTCAATCATAGTTAGAGTAGATTAGTTTATACATTAGGTCAATATTCAGTTATCAGTGAGGGATCTTAGGAAGGGGAGCTCTACAGATTGTACCTGTTACTAGTGATTTTGGCAGGAAGGTTAAACTATTCATATAAGCTTTTAATTATTTAATGAAGATTAATTTCTGGTATTAGTTTGATTCTTCTTCCAAATTTATTATTAAAGCCAGTTAGGAAGGTTTAGGGATTACTATTATTGAATCTCATACTGTTATATTACAACATGTTAGCAGATCTGTTTTTAAATTTTGTTTGTTTTTTTGCTTTTGTAGGTTGCCATGGGTCAAGGTCAAGCTGATTTAGCAATTCAAATGCTAAAAGAATGTGCCCGCAATGGAGACTGGCTCTGTTTGAAGAACTTACATCTTGTGGTATCTTGGCTGCCAGTTCTGGAAAAGGTAGATTCAGATAAATGTACAAATAATATCTATTATACTCAACTTAGCAATCTCCAAGGGACATCAGTATTAAAATGTCATGCATTATTTATGATGATTTAAAAAGTAATATTTGAGAAATTTTAAATTTAAATATTTCATAAATATGTACAATTCTGCAAAATAAGACATTAATAGGAAGTCTATAAAAATCTTTTTTTAAAGGCATATAAGAGAAGCCAAGACATTTTTAATGAAGATTGACAGGGAAGCTTAGAAGACATATTTATACCATGAGTTTCTTTTTTTGCTCTTATTCTGTTGATCTGTATTGGGAGAAGAGACATAGTGGGGTGTCAGAGGGAACTGCCTAACTTCCTAGGTGCTAAGGAAGCTAGAGAATAAACTGAAGCAAATGTTTCGTTTATCTCAAATGGACTCAGGAGAAAAATAATCTTAAGACAGGACAAGTCACTGGATGGGCTTTACATGCAAACCTAGATTTTATTCTAGTGCTTATTTAAGAAAGATGAGTAGGGTCTTGGGTAGTTAAAGATGATTCTGAAGAGATATTCCTTGAAAGTCAAATAGGATTTTGCTAAGTATAGGCAAAGAAAGGATATCATGATTTTAATTCCATCAGCACAAGTAGAGATAGTGTTGGGGATGTCCACCCCTAGTACAAGGAATGAAGAGATGTCCTTGATAGTACTAGACGGGCCAGGCAGGGAAGCGTGGGGAAATTGAATTAGATGACTAGGAAAGAGCTAGGTTATGGAATACCCTGAGAACCATGCAGAACATTTTGGAATTTTTGTCCTGGGACTTAGAGGGCCAAAGGAGGTCCTTAACAGAGAAGTTAGTAATTAATTAATTAATTAATTTTTTCTGGCAGTGGTATATAGAATAGAAACAAACAGAATAGAGTAAATTGAGGGAGGTCCTGCCCTAGGTGTGAGGTATTAAAAATCTCTGCAGTCCTAATTAATTGGCAACTACACACTTCCACAAATAGTCAGTAAATTTTTGATGAGTAAGTTAATGAGTGAGTGAATGAGTTGATGGACCATGGTGATTCGTGATTCATTACTTGTAATCAAGAGAAGATACAGATTTTGGACTATGAATATTCATGTAATTCTATTATGGCTTTCTGTAAAAATTACTAATGTGTAAAAATATAAAATTTATGTCTGATAAATCATATATGTTTTGTTTTGGGTTTTTTTTGAGACAGAATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCACAAGTTTGGCTCACTGCAACCTCCACCTCCCAAGTTCAAATGATTCTCGTGCCTCAGCCTCCCAAGTAGCTGCGATTACAGGCATGCATCACCATGCCTGGCTGATTTTTGTATTTTTATTAGAGACAGGGTTTTGCCATTGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGTGATCTGCCTGCCTCAGCTTCCCAAAGTGCTGGGATTGCAGGCGTGAGCCATCGCGCCTAGCCTGATAAATCATGTATGTTTTAAGATATGTAAAAAAGACTGGCAAATACTTGTACTGCTTTCTGTGTCAAACAGTTGATTGATAGCTACTAATCTATGTAAAATGTAATTAGAGTTATTATCTTGAAAGCACATCTTAATTAGAACTCGTAGAAACAGTACATAATATTATATAATTTTTAAAATAACTGATTATTATTTGCTTTTCTATTAGTTTGGGTGGATTGATTGGATATAAATTTATAAATTTACTGTAAATCCAACTATATCCAGCTATAAATCCAACTATATCACAATGTATTGTTTCTTTTACCTTTTAAATTTTTTTAGATTTGCTAACCCAAAGCAAAGTTTTATATAAACTTTACATTTTAAAGTTATGAGGTGTAAATACATTTTATCCTTTATAATTTTAAGCAAGCACAATGTTTTTAGGGCCATTCTTTTGTCATTTTTTTGTCATCTTAACTCTACATTTCACGTGATATTAAATGAATGTTAGTGTTAAACATCAATTATATTAAAATAATTTTTAGACTTCATTCTCTTTTAGAGCTATCAAAACTTCTTCTGTCATTTATTTATTCATTTATTAAATTTACAAATACTTGCTGAGTACAAGAAAAAGCCAGAAATTGTGCCAGGTTCTGGTTACCTACAGAATTTGTACCTGCTCTCTGGGAACTTAATTTAGAAGAGACAGATCACATTAATAACTATATTGTGGGATGAAGAATACTGTGGGAAAAATTTACAAAATGACATGGGTCATTAAATCTGGTTGGGATTGTGATAGTGAAGAGTTGGAGAAGATATTCCACTAAGACATAATATTTAAATTGTATTTTGACAGATAAGTAATAATTTGTCAGAGTACAAAGAGAATAATAGGCAGAGGAAATATGATGAGTAAAGATAGTCATAAGAGTCTGGATAAATGACTAAAGCCCACAGTATGAGAAGCATGGGCAGATGAATTTGTATGGTGAAGTTTTGAATTTATATTATAGGCCATAAGGTGCTACTAAAAATTGTAAATAAGGGAATTAATATCATTATATAACTCTGTAGAAGCATGAATTAAAGCAGTGAGAATCTAAAGACCTTAAGAAGGCTGGTAGTTTAGGCATAGCAATTGTAGCTAACACTTACTTTGAACTTACTATGTATCAGGCACTGTTTTAGTGTCTTAAACAATTCTTTGTGATAGGTGCTATTATTATCCTTGTTTAGAGATGGAATAAGTCAAAGAGACCAAGGTCACATAGCAGATTAGTGGCAAAGTATGAATTTCAACCCAGTCAACATGACTTTAGATGGAGATTCTTATTCATTACACTGAGCTAGTAATAGAAAAGATAAAAATTTAAAGGAAATATAACCAGAGCATTAAGAAATACATCAGAATGTCACAAAAGTTTTAATTAAAAATAGTTACTAATAATGTAATGTAAAAGAGAAACTTTCATATATATTTAAGTAAATTTTTGTCATTGGTTTTGTAAACAAGGAATTGAATACTCTTCAACCTAAAGATACCTTTCGTCTTTGGCTCACTGCAGAAGTTCATCCCAACTTTACTCCTATTTTACTACAGTCAAGTCTGAAGATAACATATGAGGTAAGAAGATTTAAAACTTGGATCACCAGTTGTATGAAAGCAGTACTCTATACATGACTTCTAAAACTTTGTAAACAACTATTATACAGAACACACAACTTCTTTTTACATTTAGATGAGGTATACATAGATAATAGCATAAGATGATGTAAAATACATTTAAATCTTTTCAAATTTTATTTCATACTTATGTTTTTTGTTTTTATTGTGGTAAGAAACACATAACATGACATTTGCTATCGTAACAATTTTTAAGTGTGTAGTGCAATATGCACCTTGTTGTGCAGTAGATCTGTAGAACTTTTTTTATCTTGCAAAATTGAAACTCTATGACCATTGAAGAGCAACTCTTCATTTTGCCCTATCCTCTGGCAACCACCATTTTACTTTCTAAGAGTTTGACTGCTTTAGCTACCTCATTTAGTAAAATCATGGATTATCTTTTTGTTATTTCACTTAACATAATGTCCTCAAGGTTCATCCATGTTTTAGCATGTGGCAGGATTTCCTTTCTTAAGATAGGATAATATTTCATTGTATGTATATACCACATTTTCTTTATCCATTAATCCATCAGTGGACATTTAGGTCTTTGACTTCTTGGCTGTTGTGAATAATACAGTGAACACTGGTGAGCACATATCTCTTCAAGATTCTGCTTTCAATTATTTTGGATATGTAGCCAGAAGTGGGATTGCTGCATCATATGGTGATTCTATTTTTAAGTTTTTGATGGAACTTCATACTGTTTTTCATAGTGGCTACATCGTTTTACATTCCCACTAGCACTGAACAATTTGTCCACATCCTCACCAACACTTTTCTTTGAGTGTGTGTGTTTAATAGTGGTCGTCTGAGTGGGTGTGAGGTGATGTCTGTTTGTGGTTTTGATTTGCATTTCCCTGGTAATGAGTAACGTTGAGCATCTTTCATATGTTTGGACATTTATATATCTTATTCGGAGAAATGTCTTTTCAAATTCTTTGCCTACTTTTAAAATTATTTAATTTTTTGCTGTTGAGTTGTATTAATAGTTCATTATATATTCTGGATACTAATTGCTTAGTATCTTATCAGATGTATGGTTTGCAAATATTCTCTCCCATTCTATAGATTGCTTTTCACTCTGTTGATTGTTCCCAACCTCCCTGCCTTCCTTCTATGCTTATGTCCATCCATCCTTGTATCTCTCTAATATGTAATGCTAGGTAGATCCAACCCAAACCTTATATAGCTAAAATTGTGTTTGTAATGATATTTTGTGATTTGTCAGAGTCATAAATGAAATAGCAAACTATTAAAACTGTCATTTTATTAGTGTTTGTAACTGCATGCTATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGGGTCTCGCTCTGTTACCCAGGCTGGAGTGCAGTGATGCTATCACAGCTCACTGCAGTCTCGACCTGCTGGGCTCAAGCAATCCTCCCACCTCAGCTTTCTGAGTAGGTGGAATTACAGGTGCTTCACCACACCCAGATAATTTTTTTATTTCTTTTCTTTTTTTTTTTCTTTTTTTTGAGAGACGAGGCCTAACTATGTTGCCGAGGCTGGTCCTGAACTCCTTAGGCTCAAGCAATTCTCTTGTCTTGGCTTCCCAAAATGCTGGGATTACAGGCATGAGCCATTGTGCCTGGTCCTACCTGTTATTTTAGATCAGTACTGCTCTTTTTCATCTGAAGGTGTTTGTTTCATTTAAGGAAAAAAAAAAGGGTAAGCATTAATCCAGAAATGCAAAGATGATTTAATATTAGAAATATTTTAATTGAATGATTATAAGGTCTAGTAAGAAAGAACTTTCCCAGAATCTTCTCCAGCTACAATCCCACTATACAATTCTACTAATCTATATTCTAGGACTGGATTGCATGAGCCATGAGGGCAGGGGGTATTTTTTTTTGCTTGCATTTTTGAACTTAGCATGTAATTCAAGGCCAAGTAAGAGGAATTCAGTAAATATTTCGATAAGAGAGTATTATTATACCAGGTAAACTGTTCCTTGAATGTTTTAATGTGTAACCTTTTCTGGGATCTTGTTAAGAGGTAATTTGATTATATTTTTATGGGAATTTCCAATTTGATTTCAATTATTAGTGAATTTTTTTATTTCTTGAATCACTATAGGAAATTTTAACTATCTTAGCTTAGACTATCTGTGTAGTTCATTGAGATGTTCAAAATGATTATATGTATGTGCATATATATAATATGGGCATATATTATTTTTTAAAATTGTTAAATTCACTTCATTATTTTTTTCCTTTTTCGATTAGTTGTCAGAGTTGTTTAAAAAATTGTTTTTCCAAGTAACTGTTGCTATACTTATGAATTTGCTTTTTCTTATTCTTTTCATTTCACCGAATTTTCTTCTTTTTTCTGTTTTCCTTTCTAATGCTGTCTTTAGATTTTTTCTCGTTTTCTTCTTCCTGATTTCTTGAGTTGAATGGTTGTTTTGTATTTGCTTGTATTCATACTGAAATTGTTCTAAGTCTGAATTTGCAGCTTAATATGTCTTTGGCTTTATTTCATAATTTTGGCATATTAGTATTTTTGTTTCATTTATTTTTCAGTCTGTACTTATATGTGATTTTCTATGTAACTGTATAGGATTTATTAATTTGTATGATCTTTAGTGTAGTGCCTTTTTAAAAACTCTAAGTGGTTGTTTGGTTTCCTATTAATGTCATGTTTTATTGAGTAGTGTGCAGAAATTTGGCCTTATCTATGGTGGTTTTTGTAAATGTTTCATAAACATAAAAGCTTTCATTAAAAAAGTGTAAATTTGATAGGTACTTAATACTTCAGTAGTGTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGGGAGACTGAGTCTTGCTCTGTGCCCAGGCTGGAGAACAGTGGTGTAATCTTTGTAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCAATTATCCTGCCTCATCCTGCTGAGCAGCTGCGATTACAAGTGTGCACCACCACACCTGGCTAATTTTTTATTTATTTTTTGTATTTTTAGTAGAGGCGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCCACACACCTCAGCTTCCCTAAGTGCTGGGATTACAAGCGTGAGCCACCATACCCAGCCACTTTTTAAAGAAGAAGGTCGTTTTACTTAAGAAATAACAATGAAAAGGATTTCAAAGGGGATGACTAATTTTTGTAGTAGGCATTCTTAAAGTATTGCCCTGAATTTATTATTTTTATGTTAGAAACCATTTTGGAAGAAATATTTTATTTTTAAAACAAGCTAATTAGAATAACTTGGGCAGAAAAACCCACATTATATATTTTTTAATATTAGAATTCTTTTCGAGGGGGTTGTTTTGCTATTTTCCCATGAACTTGAAAAGTTATCATTTTGATAATTTAAAAAATAATGACAGATATGATACATATGGATGAACATTTTTAAAGATTTTATACTAGTCTGATATATAATTTCACTTCCTGGATTTTTGTGTCTATGAACCTAGCAATGTTAGGTAATACTTTAAATCTGGACTAATGCATAAGGAACGTTAGTTGACATTCTATGTAAATGGTATGTTGAATTCCTCATGGAAATTCAAATAGCAACTAGTAAGGGAAAGCTGCTGTATTAAACTCAAATACCTGTCCCATAACAATCAATATCACATTAGTATTATTAAGTAGTGATTTAGTGTCAGTGGGAAAAAAAAAACCTCTCAATCATCCTATAAAACTTATTTGGTTATTTTGAATATTATTGTATAGATTTTTAAATTTGAATAATTATTCTGTATTTATATTTGAGATGAACTGTTAGATATAAGCAATTTAACACTAGTTTTATGTACATTTTGAAGTAACATAATAATTTAACTCAAACCCGGTAAGCAGTGAAAAATTTTCTTTAAATTATGTTCTTAAATATGTTAAAATCTAATATATTTTACTTGTAGGATTTTAGCAATAGGATGTCTGTTGATTTTTTTTCTAGTCACCTCCAGGTTTAAAGAAGAATTTAATGCGTACTTATGAGTCTTGGACTCCTGAGCAAATTAGCAAAAAAGATAATACACATCGAGCTCATGCTCTCTTCAGTCTTGCATGGTTTCATGCTGCATGTCAAGAAAGAAGAAACTATATTCCTCAGGTAAGTAAGAACATGTCTTGAATACATTCTAAGCTTTATATTTTTGTATGTTAAAATATTTTTGTGGCCAGGCATGGTGGCTCATGCCTGTAATCCCAGTACTGTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGACCAACATGGGGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTATAAGCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGTTTGTGGTGAGCCGAGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGTAGTGGCACACGCCTGTAGTTCCAGCTACTTGGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCATTCCAGCCTGGGTGACAGAAAGAGACTCTGCCTCAAAAAAAAAAAAAAAAAAAAAAAAACCAATTGTAATGTAGTATAAATAGCTAGGTTTACATATTTACATATTTACATAGTAATTTGGCTCATGACTTAAATTTATATCCTTAATTTGATCTTTTCTGCTAATCTAGACTGTATATAGCTAACTACTTCACGTCTCATTGTATTAAAGTATTAAGAACAATTTGTGACCCATTATAAGCCCTCAATGAGTGTTAGGTATCATTTTTATAGTTTATATTGCCTAGACGTCTCAAACTTCAAAACTTGTATTCCCCATACCAGTCAGTTCTTCCCAATAAAAGCCATTGGTATCTGTCTGCTTCCTCAGTCTATAAACTCAGGAGCTGTTCTTGATATGTTGTGTTTCTTAGCTTCCCTATCCAATCCATCATCAAGTCTTGTTAATTCTACTTCCAAAATATAATTTAAATATGTGTACTTCACCATTTTAAACCTCACCTCTCACCTGTACTACTTTCTGAATTTGTCTTCCAACTGTTCTTCCTACTTTTTGCATTTAGCAACCAGAATTATCTTTCTAATATCTGAGTTTGGTTATTACTTTGCTTAAAATTTATCAAGTGGCTTTTTATTGTACTTAGGGAAAAGATATGCCTTACCATAGTCCAGAAGAAAAGACCCACCTATCTCTTCAGCCTCCTCTCAGGCCCTTTGTGTCACTTGCATTCTATACTTCAGTCATGCTGGGCTTTTTTAAGGTCTTGAATCTGTCTACTCTTTCTCACCAAAGGCTCTCTATCTGTTATCGTCATCACAATCAATAAACTGCATTTTTTCCATTGCCATGGCAGTCATATCTGGTACTAATGGTCAATTCTTCTTGCCAAATGCTTCTCTCAGCTGTAAATTGCATCACTCTTCCATCTTTAAATTTTTCCCATCCTCTTTTTTCAACTTGGTCCACTTCTGTTGAGGAAAATCTCTCCTCAAACTTTCCCCCTCATGCTGCTCCCCTTTTAACCTCTCTGTTTCAGTGCCATGTCAAAACAAGAGCATAGGTTCTGGAGCTAGACAGACTTGCATTTGAGTCCTGACTTGAGAGTTTCCTTGCAGTGATACCTTGGGTAAACTGTTTTAACCCCCAAAAGCGTCAGTTGCCTCAACTGTAGAACGAGAGTAACAATCATATTTACCTTTATTGTGGGCATCAAATGAAATAGTGTATGTTTAATGCTTAACACAGTGTCTGATTTGTAGCCTGTCAATAAACATTTGTCAAACAGATGAAATAGTAAACAATAATAGCATTGTGTTGTTTCTTATAATATGTATACCACACTTATGGGGAGGACTCATTGATCATAGTTAACTTGCTCAAAGAATCACACCTAAAAAGTAGAGTTCCAAAATGGGTAGGCACATCTTCCTGTAAATCTTTTTTTTCCTGACTTCTCTGACCTCTGTCCTTAGCCTAATATATCAATTAATCCTGAAGGATAGATGAACAACACTGATAGTGATTTACCTTTATTGAGAAAAGTTACATTAAAAATTTAGATTTTATTATTAAGTTATATAGGCACATGGTATAAATAAAAAAGATATAAAATGGTTTGTAATGAAAAGTTAGGTTCCTCCCTACTTACTTCCCTGCCACCCACTTTCTATTCTGAGAGGGTCCACTATTAACCATTTCTTGTTTGTGCTTCAGAGAGATTGTATAAATACACAAACATATTAATTTCTATATGCATTTATGTTCTTTATAACTCAAACAGTAGGTAGCATATTACAAGCACAGCTCTGTACCTTGCTTTTTAAAACAATATGTTTGACATTGTTAAGTATCAGTGTCTATTTAATGCCTAACTTAAAAATATTATTTGTATTACATAATATTGCTATAATTTTTTAGCAGTTTTGGATTGTTGGATGGGCATATATATTCTTTTCAACTTTTGTGAATATAAAAAAATGTTGCAATGGAGATCCCTATGCATGCTTCATTTAACACCTATTTATAGCTGTCAATTTTTAAATGTGGAATATTTGGGTCAAAGAATATATGTATTTTTAGAAATCTGTAAATATTACCAAATTGTTATCCATAGGGGATACAGCAATTCACTTTCCCACAAAAAAAAAGTTGGAGAATGTCACTTTTTTTCATACCATACTGTTGTTGTCATAAAAATCATAACACTGGAGGTAAATGTAGACAAAATATATATACCTATGACATGGTCTCTAACAATAGAATTGTTAGAGACAATTTTTATTAGAGACATGTCATAGGTATATATATTAAGCAATATTGATAGCAACGGTTTTCTAATTTGGGGATTTTAAAAATACTGATCTTCAAGGTATTAAACATTTTTTAAAAATAAACTTTTTCACATACGGTCTAACAGAATGATATAAGAAATTTTATTAAGACTTTTGAATTGTTAGAAAGTTTAGATAAATATTAGAGGAATTTTGTTAATTGTTGATGGGTACATATCCTTTAGAGATCTTTAATTCTTAAATCTGCTAACAGCAAAATTTAAATCTTTTGTTTTCATAATATCCACAATGTTCTTTTTTTAAAAAAGTATCCAAATGCTATTGACCCCAAATTTACACATACAGCTCAGATCAATTTTCTAGGCTGTATGTTTGCATATCTGGCAGTTGACATATCCAGTTGGATGTCTCAAACATGTCTGAAAATTCACGTATTCTGGATCAAGCACTAGAATTTAAGCTTCCCAAGTGCACAGATATTTGCCTCTTGTTTATTGCTATGTTTTAATTGACGAAAACATGGCCTGGTATATAGCAGTCCAAAACTTATGTTTTTGTTTAATGTGTTTGTTTAAATGCTTTGTTAAGCTTTTGTTTGGTGATCTCATGATATTCCTTCCCAAACCTTGTATTCTTTCAGTGTTTCACTTATTAAGAATGACATCATCCATCATCAATTTGAATGAGCGATAAGCTTAGAAGTCATTCTTAACAGCCCTCTTTTTCATGTCTTCATACTCCATTACAATCCAATACAAAAATTCTGTTAGTTTTATTTTCCTAACGAGTTCTTAAATCTGTCTACTTTTATCTTTGTATGTCACCCCTCTCCCCATTAGGGTGACTTTCCCTCTCCTCTAGATTAGGTCAGATCTCTTTCATATGTGTGAAACATACTAAATGTTTCTCTCCATCAAAGTTATTATCATTTTACAGTTGCATATGTATTTGAGTGATTGTCTCCAGCCCACTCTTTCCCACGTTTTACTGAAAGCTACATGAGGGCAGGGATAATTTTTTTGTTCATTCTTATATTCCCAGAGCCTGACATATAATACATATTTTAAAAATATTTTTTGAGTGTTGAATGAATGAATGAAATTTGTATCAGTATTCCTAATATCCAAGTCTAAATATATTTTAATTTGAACTTATTTTATTACTTAGAACTAATTAGTCAATAGAAGCCATATAGAAATTATTTTATGTTTCAATTTATTGTCTACACAATATAGAGCTCTATGAATATTCATTTTATACAAACATTGTAGCTATTAGTTATAGTTATATAATTTTATTTAGTTCTGATACGCATGCTTTGTGGGTTCAATATGAATGAATATACTGCTATAAGCTTTTGGGCCTTTTTTTGTGCAGTATTTTTTTTTGTATGTTTGTGGAGAAAATCCACAATTCTGGAGGATAAAATTTTAGGAAATATCCCAATGTATATATAGCAATTAGAATAAAAAATGTAGTATATCAGTTTGTTCTCTATGATTGTGTTGCCACATAACTAACTAAAACTAGTATGGTATTATAAAGTACTTTTCATGCTATGGCCAGTTAATTTTTTTTAAGTTTACTGTTACTTTAGATTTATTATGTGTTGGTTTTATTAAAAATTCTCAGGAGTTATATATTTTTAAGTCTATATTGATCATTTAATTTAAAGACAGTGATACATACATATATATCTTTGACTACTGCTTAGTTGTTTACTTAAAAAAATTGTTTTTTGACAGGGTTGGACAAAGTTTTATGAATTTTCTTTATCAGATCTTCGGGCTGGGTACAACATTATTGACAGACTTTTTGATGGTAAGTTCTAACAAAAATTTTAATCTCATATTAATAAAATATTTTATCTGAGGTCTTATTAACTATGTTTTCTTCAGAAGTGGCTTAACTTCCTATCACAAAATTTGCTTGTGCTTTTTATTTTATTTTTTATTTGACTTCTATACCTGTGTTATCTCAGAGTTCTTATATGGATCTGTTTTTACATGGATTCTTCTTTCTGGGAGCAGAAGTCTAGAAAGACCTTGTTTTCACTTTGTGGCTTTCAAAAGTTTCAGGCACTAACTGAATTTTTCAGATGTCTTTCAGGGGAACTGTTAAAATTCAGGAGTATAGCAGACTAAGATTAGTACCAAGGATCTGTGGAGTCATAATTGAATTACTAAGTAGGATTCAGGAAACAAGGTACAAATAATAGATTGAAACACAGCAGCAAATAAAGCCATTTAATCTGACCCCCTAAGGCCATCTAGCTATCAGCCTCCTTGAAAACAGGAACAGTCTAATCTCTAAAGTTTATTGTGCAGGGCGAAGGGAGGGGGACACTAGAGTTTAGACCAATGATGGATTAGAGAATAGAGTATGTTGATAGTAATCTCAAACTTAAAAATATCACAAACAAATCTCTCAATTCCTGTCTCCTCCCCACCCCCAACCCTGCAACCCTGCCAAATACTTTTTCCTGATTCTGCCTCCGTTTCAGTAGATGGCCCACCATTCCTGTATTAATAGTTGTTCAAGGCTAAAGCCTGTGAGTCACCTTGGATTCTTTTTTTTTTTCTCATCCTCAGACATCCAGTGCTTTGGCAATTTCTATCCTTTGCAAATCACATCATGATTCTATTCGCTTATTTTCCAATGTGTTGGCAGTCCAAGCAATAATTTCTTACCTGGTCTTCTTCCACTTTAGCACCCTTGCAAACATTCTTCATACCATAAACAACTTTAGTTTTTAGAAATGCAAACCAAAGCATATAATTTTCCTGTTTAAAACCTATATCCATATTTGGCATCTTTGTGTTCCTCAAACAAGCCAGACTTGTTCTTACTTGAAGGTTTTAATAGGTGTTCTTCCTTCGGTCTGAAATGCTTTCCTCCCAAACTTTCATATGGCCTTCTTCTTCCTATTGTTCACTTCTCAGCTTGGATGTATCCTCTTGAGAAGAGAATTGCTTCTGGAGATTGATTTCTTACTGCTGAATCTGAAGTAATCTAATCATTCTCTATCCCTTTGTATTGTCATATTGTCTTAATACATTAGTACTACCTCGATATCTTCTTGTTTATTCATTTATTTTCTTATTTTGTTTCTCTTCCCACTAGAGCATTATCTATTTTAAAGTAAGATCTTTGTCTCGTTAACTGTGTATATCCTTGAGGTTTATAACAGTGCCTAGCCCATCATAGTTACTCAATTATTATTTCAGTTAATAGCATCAGAAATTTTTTCTATAACTTGTCTTTGGCAAAAGGATAAGGATGGACAGCTAGGATGTGGCCAAGTCCCATTTTAATTTATATATTTTTAAAGTTTAAAAAAACCTATTTAATGAAGTATATGGACAAAAAGTACTTACAAGATTATGGCTCACTGAAATTTCCACAAACTGAATTCCCCCACGTAGCCAGCACCTTAATCAAGAAACAGAACATTATAAGTACCACTGAATCTACTCATGTAATGTTGCCTTTCAGCCTCTACCATCCCCTAACTTTATCTTCCCCTGTTCCTGAGGTAGACACCAGACACCTAACTATATAGATTACTTTTGCCTGTTTTTGTAAAACTGGAAACATACAGCATATATGCTCTAGTGTTTGGGTTCCTGTAGTTAACATTATATTTGATAGATTCAGCTATGTGTTTGCATTTAGTTGTAGTCCATTTATTCTCAATGCTATACAGTATACCTTTGTGTAATTATATGTATTTCTGTTGATGGACATGCTGGTAGTTTTGAGTTTGGGATGATTATGGGTAATGCTGCTATACCTTTAGGTGAATATATAGATATATTTCTGTTGAGTATATATGTAGGAGTAGAATTGCTAGGCCACAGGTTATGCATTTGTTCACCATTACTAGTTAATGCCAAATAGTATTCCAAGAGAATTTTCTGTTTGTTTAAAAGATTTTTTAAAATTCTACATCAGAAAAGTACACATAAATGTACAATTCAATAAATTTTCCATAAACTGAACCTATGTAACTTGCCCAAAATAAAAAATAAAATAAGAACAGCATTATCAGTATTTTAGAAGTGGCTTCTTCCTACTCCTTTCTACCTATGACCCAACATTCCCCACCTCATACATGGGTAACTACTTTCCTGCACTACGTGAACTGTTGTTTTTAATATTTGACACAGATTTTTTTTTTGGAGGATATAAACTAATACTTTTTTCAGCTTGCCTAAAAACTTGGTAATTTTCCAAAATGCTTTTGAATATTTATTTGACTTTTATAATACCACTATGAGGCTATTAGTGTTAGTGCCTTTTCACAAAAGAGAAAAGCAAAACAGAATTTGAATGATGTATCATTGTGTTTCACGTTTGTGATAGAATTAATTAATAGCATTGTAAGACATAGATATATAAATAGGTATCTTACACCATTATGTTTTGAATAAAAGGCAGATGCTCTAAAATGATATTGAATCTGAGTAAAAATCTGTTAAATCTTGATTACAGAATTTTCTGACATGAAGGAACTTCCACATGTATAGAATTAAATGCCAAAAAAGAGAAAAAGGTCTAACTCTTGGGAACAATTGGTATTGAGAGTAATAGCCATGCGACCTAGAGCAAGTTTCCTAATCTTTAAGCCTGAGTTTCCTGATCTTTAAATTAGGAATGATAGTAGACACTATCTCAGTTTATTCGAATATCCAGAAGTTTAAATTACAAAAGCTACATGAAGCATTTAACATTTAGTACATTTAATATGTGGAGTTAAGCTATCAGTAATTGTTGGCTGTTATTATTGCTATTGTTGTAATTTAAGTTCTATTCATTTTATTTTATCCTGAACAACATAAAATTTGTTTTGAGAAAAATAGGTAGAAAAAAATAAGATTTTCTTATAAAAATTCGATAAAATATTTCACATAATGGCTGCTGTTTCTGTTTTATAAGTTGAAAGATACACTAATATGTCTGTATTCCTTAATGACTTATCAATGACTGGCTAACTTATCAGTGACTGTCTAAATGATAAAGGTATCATTTAGTGAGTATCAGGACAACTAGAAATTTGAGTCCTGGTGAAGTCCTTTGTTTAGTCACTGTTGACTATAAGATGTAGGCAGATAACAACTTTATTCTTCCACTATATAGGTCCCCTTATCCTGCAGGAGGCAACCTAAATCCCTTATGTTCCAAGGCATGTAGATAATCAATTTTTGTCATATCTCTAAATTTTATAGTAATGAAATGGAACTATGCTAGTAATGCTAACAATAAAGTTTATTAGCTAGTTTAAATGTAGTTATGTGTCTCCTGTATTTACTGTGATCTGAGATTTAATTCTTACATTTTAACATTACCACAAAATTGTGATGACAAGGATATTTCTGTTGCAAAATGAAATAATATACAAGAAGTTCCTCCTGACCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGACAAAGCAGTGAGCTGAGATCGCGTCATTGCACTCCAGCCTGGGTGACAGAGTGAGACACCGTCTCAAAAAAACAAAAAACAAAAACAAAAAGTTCCATTGTGGCTTTTTAATATTACATTTCTCTTCTATTAAAATAGAAAGTGGATAGTTGACTATGTAAAATCATGACGTTTAGAAGAGTGTAATGTGTGAAGGTGTTTCATAGAGTTTCCCTGTTAATCAGATTATTTTATAAACTGACAGTTTCATCAAATGTGTAAAATTATGTTTTGGATAGGTTCTCTTAAGGAATTTCCAATTTAAGTAGCCAGGATTGTGTGGCAGATAATTCAGATAATCTGACTGGATTCAGAGTACCTCATTTCTATTTCAGATCTTCGAGATTGTATAACTTTCTCATTTTGGTGCCTCAGCCTCCCTATCCCTTAGGAAGGTTTCTCCATATGTATAATTGTATAATATTAATACTTCTATCTTTGCTATAAGGATTAAGTGAATTTATACATGTAAAATATTTGGAAAATTTTACTTGATTAAAAAATCTCAAATATTTACTACTATTAATAGTCATTTGAATAAATGATTTAGTTGTATTAAATACATTTGGCTACATGTTATAAATATAACTCAAGGCAGGAATTTAGTTAATATTTTAGAAATGAAATTAATGAGTGTTTTTTTAAAATTATAGGTGCCAAAGATGTACAATGGGAATTTGTACATGGTTTACTTGAAAATGCTATTTATGGAGGACGTATAGACAACTATTTTGACCTTAGAGTTCTTCAGTCATACCTGAAGCAGTTTTTTAATTCTTCAGTTATTGATGTATTCAACCAAAGGAACAAGAAAAGCATTTTTCCATATTCCGTATCTCTACCACAATCCTGCAGCATTTTGGTAGGTAAAATGAATGATTTTCAATCTATTTCCAGGTAGATACGTGAATCATTTCTTACATTGTTAAATACATGTTACTTCTTTTCAAATGCACAAGTAATTATTCACAGTTTGGATTATTTGTTATGACAATATATGGCTTGATTCTTTCAACTTTAGTGAGGCATCCTAAAAACTTTTGAGTACTTACTGAAAGTTGGGTGGTTGATCATAATAATAGGCTGGTATATAGACAGATCTTGAAGGGAGTGGCCAAAGAAAATTCAAATAAGGTAGGACTGCTGTGAAAAGCTGAAGTGGGAGAATATGCACTTCATAGTAGGCATGAGTATACTCTCATATATTGAAAAATATGAAAGAAGACAAATATTATTTAATAAATATGTGTCTTCAGTTTCTGGCTTGTACACTTAAAGCTTGTCTAAATATGTAAAATGAATTTACTTTGTTTTTCACAGCAACATTTTGTGTATTTTTTTCAGCCAGCTGTAGCTTTTTGCCTTGAGCCGTCACATGAAAGCCTCCTAGAATGTACTCATCTTTTCCAGAAAATAGTAATAAGTATAGCCAAAAGATTTCAATTTTGATTTATTTTGCCATAAACCTATCTGTGTATAAGTGTGCAAATAATTCTTTATTAGAGTACTATAATTATACATTTCTTCATGAATTACAAAGGCATATATCTATTCAATTATGTAGTTCTCTCAGTTTTGTGCTGTTTCCTTTCATCCAAATTTTTTTCAAGAAAAATCCTTCATTTGGCACATAATTGTCAAAAAATAAAAGTTTAAAAATCACTATTAAATATATTACTCTTACTGACTATCTTACTTATTACCTTAAGTATGCTGTTTTGTTTCTAGTATCTTTAATTTACTCATTCATTCAATAATATGCATTGAACATCTGCTCAGTGATAGTGCTGTTCTAGGTATTGTGGATATAGTAATGCACCTGTGGAGTTTACCTTCTAGCAGAACCTTAGAGGGAATGAATAAATAGAGAATATCGCATAATTACTATACATTTAACTCAGATAGTGTACCCCAACAAGTTTTCCAACTCTATTGTTAGAAGCTTACATTGAAAAATACAATTCATACAGAAATGTATACATCCTAAGTGCACAATTCCATGAATTTTCATACATAGACCACATGAGTGTAGCCAGTTCTGGGGTCAAGAAACAGAGTATTATTAGCTTCCCAGAATTTCTCCTTATGTTCCCTTCTAGTTACTACCTCTCCCACAAAGGGTACATTATACTTAACTCTAACAGCCTAGTTTTCTTGTTTTTGTGCTGTTTATATAAATTATATCACGTGGTATATATATATTTTTATGTACAAGTAAGGGTAAATCAGTCTGAATATGTAACTGCCAGTTACTAGTCAGCATATCACTGTATAGTTCTAGATAGACAGAAGACTCTAGCCAGTCTAGACAAGATTTCATAGCTATTTTGAAATAAGCAAAGTGTATAACTCTACAAAGAGTAAATATTTTTAAATTTATAGGATGACTTATGACAATCACTGTTTAGCTTTCTAATTGAGTTAGATGAAAGACACTGAATGTTTCCCACGATAATACATGCACACATATATGCAAACATACACTCATGTACATGTACATATACATTTATACGTATATATTGTGATTGAATACCTTGAGGAAGTTTACAAATGCTAAGCTAAAGGATTGGAAGAATTTCAAAGAACAGCATGACTTTCCAAAATGTGACATATTTACAGGCCCCGGACTTCCTGGAGTCCAACTGTCTCCTTGGAAATACTTCAGGGTCAGCTGCCAAGGATAAGAACGGATGAGGGGAAGTCAGAGGCCAAGTCTCCCATGCCTACTTCAGCAAACACGGTTTAGATGCACGTGCAGTACTTGCCTTAAAATAACTTCTCTTCATGAAAACAAAACAGTTTCCATGTTTAGGCCAAACTGAATAAGTGTTTTTGCCTGCACTTAGTTTTTGATTTAAAGTCATGAGTGAGTAACTGTTGAAATGAATGCTCAACAAGCCAAGCTTATTCAATGTGTAGGGTAATTCTTAGGATGAAATGATAGGATTATCAATGCATTTTATCACACCTCACCAGCAAACTGAAGACTAACTGGAATTGCTCTATTATAAAGCAATTTACAAAGCAGTGCTTCTACACGTTTACAAGGTTTCTCTAAGTTAAAAAGAAACAAAAGTAGATTGCCTGAATATATAAATATATATATATATATATAACTGCTTAATTTAACATGAGCAGAACTGCACTCTGCAGATTGGTCTTTGGTAAGTTATAGGAAAAAAATTACAGAGCTATCCTAAAAACATCTAACATGGTAGCTTACATATAGTAGGCATAATCACTCAAATATGTTGTAAATAATTCGGAGTCCCTTTGTATGTGGGAGTTATGATAAGAAAATATAATATCAAATAATTGAAGTGTGAAGAAGTATTAATGACAGAATACTTCCCACAGATAACTGAGTTAATATCATACAAAGTGAGATTTATCTAGAAAATAAAAATACAAATAATAATTGAACATTTCAAAGTATTCTTTCTTATTTCAATGATTGTAAGTTCAATCTTTATTTTTTAAAAAAACTGTTTTTCACTTCTTTATATTTAGGACTATCGTGCTGTCATTGAGAAAATTCCAGAGGACGACAAACCTAGTTTCTTTGGTCTGCCTGCCAATATCGCTCGCTCATCTCAGCGCATGATCAGTTCTCAGGTAACCTAAAAAAAAGATCTACCTTCAAAAAAAGTTGCTAGTGAGCCTGAAGGAGACAAAATTAAACTTGATTTAGTACTGTAGACCCCACAAGCTTTATTTAAACATTTTATTTTCACAACACATTCCAGTTTTACTTTAAATATATTTTTTAAAATATTTGATTTTCTGATTTTTTTTCTTTTTAAACTTTTATTTTAGACTCAGGGGAAATGTGCAGATTTGTTACATAGGTAAATTGTGTGTCGTAAGGGTTTGGTGTACAGATTATTTTATCACGTAGGTAATAAGTATAGTGCCCAACAGGTAATTTTTCGATCCTCCCTCTCCTCTCACCCTCCACCCTCAAGTAGGCCCTGGTGTCTGTTGTTCCCTTCTTTGTATCCATGTATACTCAGTGTTTAGATCTCACCTATAAGTGAGAACGTGGTATTTGGTTATCTGTTCCTGTGTTAGTTTGCTTATGAAAATGATCTCCAGCTCCATCCATCCTTGCTGTGAAGGACATGGTCTTGCTCCAGCTCCTTCACTTCCTTGCTGCAAAGGACATGGTCTTGTTCTTTTCTTATGTTGCATATTCCATGTTGTCTATGTATCACATTTTCTTTATTCAGTCTACCATTGATGGCCATTTAGGTTGACTCCATATCTTTGCTATTGTGGGTAGTGCTGCAGTGAACATTCATGTGCATATGTCTTTATGGTAGAACCATTTATATTCCTTTGAGTATATACCCAATAATGGGATTTCTGGGTCAAATGGTAGTTCTGTTTTAAGTTCTTCGAGAAATCGCCAAACTATTTTCCACAATGGTTGATCTAATTTGCATTCCCACCAGTGGTGTGTAAGCATTCCCTTTTCTCTGCAACCTTGCCAGCACCTGTTATTTTTTGACTTTTTAATAATAGCCAGTCTGATGGGCATGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATGATCACAATGTCAAATATTTTTTCATATGTTTATTGGCCGTATGTATGTCTTCTTTTGAGAAGCATCTCTTCATGTTTTTTGCCCACTTTTTAATGGGCTTGTTTGTTTTTTGCTTGTTAATTTCTTTAAGTTCCTTATAGATTCTGGACATTGGACCTTTGTTGAGTACTTAGTTTGCAAACATTTTCTCCTATTCTGTAGGTTGTCTGTTTACTCTGTTGATAGTCTCTTTTGCTCTGCAGAAGCTCTTTAGTTAGGTCTCATTTGACAATTTTTGTTTGGGTTGCAATTGCTGTTGGCATCTTTGTCATGAAATTTTTGGGCCAGGGCCAATGTTCAGAATTGTATTTCCTAGGTTGTCTCCCATGGTTTTTATAGTTTTAGCTTTTACATTTAAGTCTTTAATCCATCTTGAGTTGATTTTTGTATATGGTGGAAGGAGTGGGTCTAGTTTCCATCTTCTTCACATGGCTAGGTAGTTAACCCAGTACCATTTATTGAATAGGAAGTTCTTTCCCCACTGCTTGTTTTATGGACCTTGTCAAAGATCGTCAGATTGTTGTAGGTGTGTAGCTTTATTTCTAGGCCCTCTATTCTGTTCTGTTGGTTTATGTGTCTGTTTCCATAGTTCTCTTTGTGGAGATCTTTCACCTGTATACTGCTGTTAATACTTCTGATTGTATTATGAAATTCTTGTAGTGAATTTTTCCATTCCAGAAGTTCAGTTTGGTTCTTCCTTAAAATGCCTGTTTCATTTTTGAGCTCTTGGATTGATTTACTGGATACCTTGGATTCTTTGGATCGGATTTCAACTTTCTCCTGAATTTTGTTGAGCTTTTTTGCCACATTCTGCATTCTACGTCATTTCAGACATTTCAGTCTCATTAGGGACCGTTGCTGGTGGGCGGGGGATGGGCGTATAGTGGGCTCCTTTGAAGGTAAGGGGACACTGGCTTTTTGAATTGCCAGAGTTTTTTCTCTGATTCTCATCTGGTGGGGCTGGCGTTCCTTTAACTCTGATGCAAGTTGGGTGCACTCAGTTGGGTTTGGTTTGGGGCGCTTTCAGAGGGCCAAGGCTCTGTACAGTGTCTTTATTTGTGGGTGAATTCTTGCTCTTGGTTTCCGGCATCTATTAGCAGAATAATGTTTAGTGTTGTAGTTTGGGCTTCAGTCCAATAGATGGCGCTTAGGAGTAGTGGCTGGTAGATAGGCTCTTACTTAGCCCTGTGGTTTTTTTGTTATTTCCTTGTTTTCGCAGGCACGTTCTTGGGAGTAGAGGGAGGGGCGGGGAATAAAATCATCTCACCAGGGCCCCGTCCTTGGCTTTGAGTGAGCCTCTTCTGATCATTGGCTCCTTCCCCGGGTTTCTTTTGCTATGTGTTCGGGGTGGTTGGGCTCCCTCTGACAGGCTGCATCCGGGAGATAGGCCGGCCATACGCTTTCTGGGCCAGCCCTGTGGAGGGACGTACGAACCGCCTCTGTGCTGGCCCACAAACCTGCACGTCCCACCCCTCTCAGTGATCTGAGGGTGGGCGCTTCTCCCCAGCTCCAGTGTTGGCCGCAGATCTGGGCTCGGTACTCCTGAGCTGCAGACCGCATTCCGGGGACACTGGAACAGCCCTTGGCTTGGGGTCAGACTCTGGCAGCACTGGGGGATCTGAAGTGCCCCTAGGTTACTTGGAAAATACTCAGATAGTGCGGAGCACTCAGGCAGGGCTGTGGAGGCTGCGTTGTGCACACGATCCTGCGGGGTGGCTATGGAGGGGCTCGGCAGTGGGAAGGCCTGCAGAACAGATGTGCCCCAATCCTGTGGGGGAAGCCAGCCTGCTGTCTCTTGGCCTGGCAGTCAGCTGATGCTAGAGCCTCTAGGAGGGTGATGAGGACCCCTGGGGGAATGGGCACTTAGGGCCTTACTCTACTACAGCTGTCCTGCACACAAAAGCTCCTGAGCTCCACAGCAGCTGAAGCACTGTTTCTGCCTAGTCTCCAGGCAGATCCTCCACCAGCTCACACATCCATGGTGGATGCGGGGTCCGCTGAGCTAGGATTCCATAGGTCCAAGGTGAGGGTGAGATGTCCCTCAGTCTCCTCACTCATCACTTCCTCAGGAGTTGCTTGGGGCCGGGAACAGCCCCGAGCATTATGTTAAGGCACACAGGGTTCCAGCTTCCTCCCGCTTCACCCTGAGCATCAGCGTCACTTCTCCATCCACTCTCGGTAGTGTTTTCTTCCCCAAGATCTGCCCAAATTTTGTTGGATTACTTGATAATTTGGTATCTCTCAGTGGGAATGGTTCTTCCTGGCTGCATCTAGTTAGCCATCTTGTTCCAGCCCTCTCTATTTTAATGTTTAAACTCAAGTTCTACCCAAATACATACGTGTGTGTGTGTATAATACATATATTTGAATATTCACATAAAATTTTACAATACTTAAGCAAATAAGGTTAATATAATTAAAAGGTTATTAAAAGAATAAAAAGTTATTTCATAGGCTCCAAAAAAGGATTTGCTTTGGGAACCTTATCAATAGAAGTTCAAAACCTTCTCTTGAAAGTTCTATTATTAACAGAACATGGCTTCTGCAACTGCTAGTCTCAGTATCATTCAGGTTCTAGGGGAATCTGATTTAGCATAGTTTGGATCAATTATCTAATGAAGGTAATAGGGTAAGATAGAGCAGATACAGCCTTAGAGACTTAGAGATACAGGAGAAGAAATACAGAATGTTCAGCATCTTCATCTTACAGGGAGGCCAAGCAAAGCAGCTACCTATATACAGAACTTATTTTGCTCCTGGGCCATTGACAAGAGCCAAGGATGTGGGGGTCATCTTGGTACTGCGAAGCTGTAGCCTTAGTTTCCCACCAATCTTCTATTTCATGTTAGCTACAAAAGTCCAGTGCTTGTATACCAACACACAGCTCCCCAGGCTAAGTGGAGTCCCAAGGAACAGGGGTTTCATGACAAACTAGGCAGATAAAACATTCCACCCTTATCTTAACTACGTAGTTTCTAAGGAAATAGTACTATGAGAAGATAGACGCCCATGTTGTTTACCCAGATTGTCCTGATTCAACCCAGACTTCATTTTACTTTTTACTCACTCGAATATAGCAAAAAATTATCCCAAATTTATCGTAATATGATCTAATTTCTACTAGTTTGTCTTGCCTTAGTATTCCAATTTTTATGAATACTTTTGGGATGAAACGAAGATAAAATTCTTCCTAAGGTTTTTTGGTTAACACTTATTTTCTTATTTGTATTTTAACTGTCAGTCTGTTTCACTGCTTATTTACTTGAGTACTTATTTTTTAATTACCATTTTTTACTTAAAAGGGTTTCACAGTGCTTCAATCATTTTAACGTTTTATTTTTCAAATTATAAAGATGTATATGCAACTGAACTAATAGAATTTATATATTTAGAGATTTTTTTCATTCCAAGCCACATTTAAACACCCTTATTTGAAAGTAAATATTCAGATACTACAAAGTTTGATTTGACACCATGCCTGTCAATGTACTTAACAAAAAGTAGATTAGAAAACATTATTTATCATGCACAAATTCAGGGATATAAGAACTGATATTGCATCAGGTATTTGATGATTTGGGCTTTTAAGGACAGGCTAATGCCAAAGTTGTATAACCAATTTTGTACAAATATGAAGGCCAAAAATGAGTACATACATTCAAGGCAATGACCACAAGTTGTATCTATCTACTGCAAATTGTTGATTATACTTATGTACAGATGCTGTGTGTCAGTAGTTAGCAGTTTTTTTGTTTTTGTAACCTGCTGCAGTATACACACCACATGGCATTCTCAACCACATCAGCTAATACACTCTTTTCCTCAACTTTTCCACTGTTATAATTACCGTAGGGATGTTACATTAACCAAAATGTGAAAGTCAAAAGCAAGAGACTTTGGGTTTTGTTTTTGATGGTGAGGAGGGGGAGAGATAAATTTGATATGTTAGTTCGAATTGCCCATGCAATAATGTTTATTTGAGTTGCCATAAAATATCTATTTGGAAATGTCTAGTAGGAACATAGACTAAATAAACGTAGGACAGACTTCAGATGTAGATATGATAAAAAAGATTTGACAAAAAAGAAGTACATCTGTGACAGAGGAAGCTGTGAGAATTAGAGATTGATTGCTAGGAAGGATGAAACAGAAAAGAAAGATGCCTGAAGGTAGTATCCTGGGAAATATCTATGATTAACACATACTTGAAGATGGGAAAATCTTTGAAAGAATTTTAGCAAGAGTGATCTGCATTCAGAAAACAAGACAAGCAGAAGAGCTTTAAAAGAGAGTCTTCAGGTGATGGGAGGGAGTGATGCTGGTTGTTCAGGGAGTGGAAGAGGAGGGCTAAGTTATAAGGAATTGGGCATTATTCAGTATTTCAAAATCTTTTCTAGAATCATCTCTGTAGAATGTTGGAGGATAGAAATCTAATTGCAGTAGTTTGGGAGGGAAAGTGGGTGAAAAAGTGATGCAAATGAATATAGGTGATTAATTTAGGAAGTTTGACACTGACCAGAACCTCTGTCTCTGCCAATAAAAGTTAAAGGCAAAATGTAAGTAATCTAATGTGAATACAAGATTCAGGGAGAAATTGTTATTACTGATGTTAGAAGAAACTGAAGCATGTTTTTTTCTGTACTCTCTTACAGGATTCTGAGTTATTCAAGGGTAGAGCATGTATTTTTCTTCTCCTTTTCTTTTTTTTGTTGTGGGGTGGTGTGCCAGTACCTGTTTGCTGATGGTACCCTTAGTGTCCTTGGTACTTTCTATTAATGAATATTGCTTTTGTTTTAAAGATGTATTTTACATTTAAAGCAACTATAAATATTGTTTGAGTTGATTGAAAAAATATCTTAAAATATTTTTGCTATTAGCGTTTTTGGCTATAGGTATTTCAGTATTTCTTTATATCTTTTCTAGAATTACTCTTGCCACTGCTTTTGCTTATTTAAATTCTTCGTTCAATACCCAGTCCAAAGCTTATCCTCTCCTGAAGTATTTGTATTGATCCTCTGGTATTTTTTACTTTTATTTATCTCAGCTATCCAACATTATTTGCCTCTAATATAATATTAGAATAGGTTTTGGAATGTAAAGGTGAATAAAAATAGTCCCTGTTTTGAAGGAATTCAGTTTAGTGGGGAGAGAAATGTGTAGAAAAAGTCCCACTGCCACGTAAGTGGTAAAATAGAAACATGTATTCTACTAAGTTTGTATCTTGTGAATTTATATCTGAATAAATATATGTACTTTTCATTTCATTGCTGAAGAAAAACTTTTTGCATGAATTAGATCATTTGTGTTATGTTTGTACGAATTTGTGCAATCAAGACAGTTTGAGTAAATGAGAAACACTTTAAAATTAAGCTAAATTAAGTTCTTCTGAAGAAATCTTTAAAGCAGAAATTATACTTCTCTTATAACTTCAGACTTAGTAATGTTTGAAATTTTGCTTCTTTTAAATTAAAAACGTAATTGTAGTTTCTACAGCTTTTTGTTTGGTTAAAACAGACTTTTGTTTCAGAAAATGAAAACTAAACAATAAATTTTTTAAATAACTAAAGCTCTAACCTATTTTCATTAATATATATCTTTATTTACCCAGATAGGACAATATCTTCTATGTGTTATGTATATTAACTTTTGTCTCCCCAAATAAATAAAACAGTTAAAATAGCACTTAGTAAATAGTAGGTCCCTTTATGACAACGCTATTCTCTTCATCTCCTTCATGTCCCTCCTCCTCTTGTACTGAAACTGGCCGGTCACAGTACTTTTATCTTTCTAATTAAGCAGCATGTGGCACCAGCAGAGTCAGACACTGAGACAAAAACTATACATCTTTCACTGGATTTCATACATTGGAATATTAGTAGTCTTTACTTGCTGGTGATCATACTTGGAGTGGAAGAAGGAAGGCAGTTGTAGTCAATAATAAGTAAACCTCAATGATTTAGAGAGCTTGAAAGAGCATTGTTTCTACTCTTTTGACAATAGAAGCCAGACTAACTGCAAATTTATAACTTTCTTTGAACCTCTCAGAGATGAAATTGCAGGGCAAAAATATGAAATCTAAGGAGATGCAGTTGCCTAAAAAGAAGTGACACAACACAAACATTTGCTTACCTGGGGCATATGGCATACCTAGGCACTGTTAAGAATTCAGCTAGAATTCTTAATAGTTAATAAATAGTTAAAAAATAAATTCTTAATAGTTAATACATTGGTCAAGGCCAAGTGTAGGCTGCTAGCCTGTGAGGGCAACTGATATAGGTGTTCTTACCCCCTTACAGGCTTTTTCTCCATGGCTCTTACCTGATGAGAGTACTCAGGAGCTTTTTTTGTACCAGAAACCTTGGGGAGAGAAACACAGCTATTTTGTGGGGAGGGGTCCATAAAACTCTGCCCCTACCCTAAGTAAAAGGAATCTGTAGACCCCTGCTTTATATAAAAGTTATCTTCAGAGGAATTTGAAACCTGCACTGCAAAAATCACCCTCAAATCCAGCCCAACTCCTCATTTAACACAAATCCCTAAAGGCCTATCAGAAAGAAAGTTATATGCATTTGTAAGCTTTAAAACTTCCTTAGTCTTTACTGCTCTGGACAAAATGTTCAGCTTTCAAGAAAACATTACAAAGTATATGAAAATGCAAGAAAAGGTACCACTCCAAGAGACAGAACAATCCAGAGAACCAGAATAAGATAAGACACAGATGTTGGAACTACCTAACAGAAAATTTAAAATAGTTACAATTTTTATGTTAAAAGTTCTGATGAGGCCAGGCGCAGTGGCTCACGCCCGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACGGTGAAAGCCGGCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCACGTGCCTGTAGTCACAGCTACTCAGGAAGGTAAGGCAGGAGAATTGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTTCCAGCCTGGGTGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAGTTCCGATGAAAAAGCATAATATGCAAGATTAGATGTTTAATTTTAGCAGAGATATGGAAACTATAAGAATTAATAAAATGAAAGTGCTAGAAATAAAAAGCAAAGTAACAGAGATGAAGACTGTCTTCAACAAGTTTATAGACTTGATATAACCAAGGAAAGAATCAGTGAAATTGAAGATAGAGCAATAGAAGTTACCCAAACTGAAACATAAGGAGAAAAAAACTGGGAAAAAAAAAAAAAAAAAATAGAACAAAGCATCCAGGAATTGGGAGACAAAATCAAACCATCTAACCATTGTATAATTAGTACTCACAAATCCACAAAGCTTAAAGGACACCATGCTGGATAAATTTCCACCACCTCACCCTCTCTTAAAAAACAAACACACACAGGCATAAAATATTAAAACTGAAAAAGACTGAAATACTGACCCTAGCAGCGGGGTAGAGAAAGTATTGTGGGGGAAACACACACCACATACAAGAAACAAATATTAGAGCAGCTTTTTCCTCAGAAGCCATTCAAGTCAGAAGATAATGGAATCGTGGTAACTTTAAAGTGCCACATGAAAAAACTGGAAACCACAAATTCTAACTCAGCAAAATATCTTTCAAAATGAAGTCAAGTCTTTCTCGGCTGGGCACAGTGGCTCACGCCTGCTATTCCAGCACTTTGGGAGGGCAAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAGATCCCCCTGGCCAACATGGTGAAACCCTGTTTCTACCAAAAATATAAAAAATTAGCCAGGTGTGGTGGCACACGCCTGTAATCGCAGCTGCTCAGGAGGCTGAGGCAGGAAAATCGCTTGAACCTGGTAGGCAGAGGTTACAGTGAGCCGAGATCATGCCACTGTACTCCAGCCCGGGAGACAGAGCAAGACTCCAACTCAAAAAAAAAAAAATCTTTCTTAAATAAAACAGAATTTATTGCCAGCAGACTTTATAAGATTGTTACAGGAAGTTCTTCAAACAGAAGAGCTATAATTACATATTAACACACATTTGAATGTTTACAAGCCAAATAACTTTCTGTTTATAATTTTAATACATAGCAATTATAAAAGTATTTCCATATTTTTGAATTCAAAGTTGAATTGTTATAAAATTGTGTGTGTAAAAAAAGTAGAATTATTATGAGGTTTATGTGTTGTTTGTTTCTTTGTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACCCACCACTTCGCCAGGCTAACTTTTTGTATTTTTAGTAGAGACAGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCTCCCACCTCAACCTCCTTATGTGTTTTTGAAAAGGAGGCTTCTGAAAACCTTAAATGTGTCATTGAAACTCAGTTCTACTATACTGGCCTCCCCAACAGGAAAGCCTATATTCATGGGAAGAAGTGCATGCATGGTTGTGGATATGGGTGCACATGACTATTTTTTAATGGGATATGGATTTGGTGGATTTTACCAATAAGTTGTTTCTAAGGATATATTTTAATTCTAATTTATCTTATCTGTCAAAAATCCAATAAATAGAAGAAAGTTAATAGAAAATTTTATCATCATAATCATTTAAGGACCATAGAAAATTAACTTTAATGTAGAAATTTCTTTTTCTCTTTTAGTGGAAATTAGATGTTGAAAACATCTGTAATAAGTTCAACTCTAGGAGGTTTCTTTTGTTCAGTAATATCATGGTTTTATTTAGCTGTTTTATCTCTTTCTTTTAAATTCTTATTTTTCCTTTAAATGTTTGCATTTGTTAATAACGATTCAGTGATGGCACATTCTCTAGGCTAAGAACACTTGCAGCATGTTGCCTGGAAAGAAATGGTGTAAAATTTGTTATTTTTGAACAAAAGTCAGAAAAATATGGGCCAACTTTACCTTTGAAAATATCCTTACTAATTTAATGATTTGAATGAAATCGAGATACAATAAAATCTTAATTTAAAATTTTTCCATCTCTGTTAATTCCTGAGGCAAACACAATAATCTATTCTAGTCTCTTCACCAGGTAGCTGTGTGACTAGTAAAACATTGAGGATTCTACTGGTAAAGAAAAAAAGCAAGCAAGGATGGTGGGGTAAATTTAGGTATTTCTGGCACGGATAGGGTAGAACAGAATTTGGCTACAAGGAATATCTGTTGTAAATCAATTATAAATTGTAAATCAATTGTAAATTGGATAAATCAGTTTGCAAATTATAAATATCAAATGTAAAATTTGGTTTCATTCTAACAATTCCATGTAATGAAGTTTTTTTTAATTACAAAAACCATTTTTATTACCAAAAACAGTTTTAGTTGGCATTTTATTACTTTTTAAAATAAATTCAAAGTTCAGTATTGGTATCTAATATGTAACATCAATATAAATAACATATAAATACGTGTCTTAAATTTGAAGATTTTGATATACTCCAGCAATTGAACATATTAAGTACCCAAGAAATGCCCATTTAAATTTGAAAATGTTCTGGTAAGCAAATTTCTTAATAATTAAAGTAGAGAGGATTTTTGTTTCATGATAGAATTGACTGCTTGTAGAACAAAGACCACAGTAGACTACTACAGTATGATAGTTTTGCAGAATACAAAGATTGCTGTGGAGTAATCTTTCCACATGCTGCAGAGAGAAGGGTATTTTCTAGTAATCTTCTCTGCAACTTTCAGCTGTAAAATGAACCTTTTTAAACAAATAAAAAACACCAGAGAAACCAAATGTTCCTTAATTATTCACCTTGAAGAATTTGGAATAATTTCTTCAGTTTAGCAAAATACATTGCCCATGATTACCATATGTATTAGGGCTTTCATGGATTAAAATACCATCTTTGGAAAATGACTTCAAGAGGTATTTTTCAATGTCCCTTATTTTGTCATGGCATTTCTTTGATTTAGCATCCAATAATGCATTTTAAAAGCATCCATCAGCATTTTAAAATTTGTTTCTGTAGGTCAGTGTTGACATTTCCCTTTGAAAAAAAAGAAGAAATGAGGGAATGGGAGGAATAGGCAACATGCAAGTTGATAGACTGATAAACATATATTTCTAACCTCTTTAATGACTATACAGTTCCTGGTCCCTTAAGTTTTTACATAACAGAGCTGCCTGCCCTGGTTTATATGGAATGTTTCAATCAGAAGCTTCTACTAGTTTCAAAAGTAGAAATATGGAAAAGTTAGAAGCTGTTAGAAATTTTCTGATCTAGGAATGAAGGAGAAAAATAGGATGTTTGGTTGGCTTCTGGCCATGAGATTAGCAGAGAGGAGAAAAATATGCTTTTGAGAATTGTTTTTTTAAATGGGAACCTGTACAAGGAATCTCTTTAAGTCTAAGTACAGTCATATAATTTTTATATTGCTAGAATTATATGAAATACGGTTACTACATTTATTACAAACCAAACTATTCCAGATAGCTTCACTTAAATCTCTTTTAAAATTGTGATTTTATCTTTTCCCATATACAGTTCATTAGTTTTTAGTGTATATGTGGCGTTATCCTTTTAACCTGTGTTTATGATGATGATAATGATTTTTATACTTCTTGTGCTCCCTGTAATAGGTTTTATGGTAAACATTTTATGTGAATTATCTCACTTAACTCTCAGAATAAGAGAGGTTACTGTCAAACTCATTCTATACGTGAGGATATTGAGGCCCAGGGAGGTTTTTATTTTTCCCAAGATCACATCTTTAGAAAGTTACTAAACTAGAACTTAAATGTGTTACTGAATACTGGTTCATGCCTGTATGACACACTCAGAGAGCAAGGGTAAATAACTTGTGTTATGAGATTCAGTCGCTTTTCTCCATAAAGGTTTCACTTACCACATAACCTTCTTATATGGGGAAAGAAAAAAGATCTCTTGCTAGGCAAAAGTAATTGGCAAAGTATTCTTCTCTTGTTTTGTATTTTTTATGGCTACATAGTAGTTGTACATATTTATAGGGTACATATAATATTTGTTAAAAGCATACACTGTGTAATGATCAAATCAGGAGAATTGCAGTATCCATCGCCTCAAACATTTGTCACTTTTTTGCATTGAGAACATTCCAAATCTACTTCTCTAGTTATTTTGAAATATACGATAAATTATTATTAACTATAGTTTCCCTGTTGTGCCACCAAACACTAGGTCTTATTACTACTATCTAACTGTATTTTTGTACCCATTAACCAACCCCTTTTTATCCTACCCTCCCTCCCAACCCCTATACACACCCTTCCTATCCTCTGGTAACTGTTATTCTACTCTCCTACCTCCATGAGATCAACTTTTTTAGCTCCCACGTATGAATGAGAACATGCAGTATTTGTCTTTCTGTACCTGGCTTATTTCACTTAATATAATGCCTTCTAGTACTATCCATGTTGTTGCAAGTGACAAGATTTTATTCTTTGTTATGGTGAAATAATATTCCATTGTTTATGTGTACCATATTTTTTCTTTATCCATTCATCTGTTGATGGGCACTTAGGTCAATGCCATATCTTGACTATTGTGAATAGTGCTGTAATAAACACTGGAGTACAGATACCTTTCCAATATACTGATTTCCTTTCTTTTGGGTATATACCCAGCAGTGAGATTGCTGGTAATAAACACAGGAGTGCAGATACCTTTCCAATATACTGATTTCCTTTTTTTTGGATATATACCCAGATTGCTGGACTGTTGGGAACAGGCCCCCAAATCTGGCCCCAAAACTGGTCATAAACAAAATCTCTGCAGCACTGTGACATGTTCGTGATGGCCATGACGCCCACGCTGAAGGTCATGGGTTTACCAGAACGAGGGCAAGGAAAACCTGGCCCACCCAGGGCAGAAAATGGCTTAAAGGCATTCCTGAGCCACAAACAATAGCGTGAGGGATCTATGCCTTAAGGACATGTTTCTGCTGCAGATAACTAGCCAGAGCCTATCCCTTTATTTTGGCCCATCCCATTGTTCCCCTAAGAATACTTTTAGTTAATCTGAAATCTATAGAAACAATGCTTATCACTGGCTTGCTGTCAATAAATATGTGGGTAAATCTCTGTTCGAGGCTCTCAGCTCTGAAGGCTGTGAGACCCCCGATTTCCTACTCCACATGCCATATTTCTGTGTGTGTGTCTTTAATTCCTCTAGCACAGCTGGGTTAGGGTCTCTATGACCAAGCTGGTCTTGGCACTGGACAATATAGTATTTCTATTTTTGGTTTTTTGAGGAACATCCATACTGTTTTCCATAGTAGCTTACTAATTTACCTTCTAACTGTGTATGAATATTCTCCTTTCTCCACATCCTCCGTAGCATCCATTATTTTTTGTCTTTTTGATAAAAGCTATTTTAACTGGGGTGAGATGATTTCTCACTGTGGTTTTGATTTCTATTTCTCTGATGAGTAGTGATGTTGAGGATTGTTTTCTATACCCGTTGGTCATTTGCATGTCTTCTTTTGAGAAATGTCTGTTAAGATCTTTTGCCTGTTTTTTAATCCAATTATTTGTTACTTTGCTATTGAATTGTTTGAATTGCTTATATATTCTTGTCATTAATCTCTTGTCAGTTGAATAGTGTGCATATATTTTCTCCTGTTCTTCAGATTGTCTCTTTGTTGATTGTTTTCTTTGCTGTGCAGAAGCTTTTTAGCTTGACATGATCCCATTTGTCCATTTTTGCTTTGGTTTCTTGTGCTTTTGAAGTCTTATTCAAGAAATCTTTGTCCAGATTAGTGTCCTGAAGCATTTCCCCAATGTTTTCTTCTAGTAGTTTCACAGTTTCAGGTATTATATTTAAGTCTTTAATCCATTTTGATTTTTGTATATGTTGAGAGACAGCTGTCTAGTTTAATTCTTCTGCATAAGGTTATCCAGTTTTCCCAGCACCATTTGTAGACGACACTGTTCTTTCCTCAATGTTTGTTCTTGGCACTTATTGAAGCTGAGTTGGTTGTAAATGTGTGGATTTATAGTCGGGTTCCTTGTTCTCTTTCATTGCTCTATGTGTCTGTTTTTATGCCCCTACCATGGTATTTTGGTTACTATAGGTTTCTAGTATACTTTGGAGTCAGGAAGTATGATTTGCTCTAGTTTTGTTCTTTTTGCTCATGATTGCTTTAGGTATTCTGGATCTTTTGTGGTTCCATATAAATGTTAGGAGTTTTTTTTCTATTTCTGTGAAGAATGTCATTGATATTTTGGTAGGGATTGCACTGAATGTGGGTGATGTGGTCATTTTTACAATAATTAATTCTTTCAAGCCATGAACATAGGATATCTTTCCATGTTTTTGTGTACTCTTCAATTTCTCTGTGTATGTTCATATAGCCTCTTTTCAAGCTCACCAATTCTTCTTCTGCCTGATCAGTTCTGCTGTTGAGACACTGATGTATTTTTCAGTTTGTCAATTGAATTTTTTAGCCAGGAATTCTGTTTCATTTATTTTAAAAATTATATGAATCTCTTTCTTAAAGTTGTCTGATAGAATTCCTTCTCTGTGTTATCTTGAAGTTTGTTGAGCTTCATGAAGACAGCTGTTTTGAATTTCCTGTCTGAGGTCACATGTCTTCATCACTCCAGGATTGGTCACTGGTGCCCTATTTAGTCTGTTTGGTGAGGTCATGTTTTCCTAGTTGTTCTTGATGCTTATGGACATTCATCATTGTCTGGGCATTTAAGTGTTAGATATTTATTTCTGTCTTTGTGTTATGGCCTTGTTTGTACCTGTCCTTCTTGAGTGGACTTTGAAGACTTCAAATATAATTGAGTGTTGTTACCATAGCTGTAGCTACTACAGCCATTTTAGCATTACCAGGTGCCCTAACCCAGGTATGCTGTGACCCCTACAGACCCTTAGATATATAGCCTTGGTGGAGTTGGGCAAGGTAAGACAGAATTCCCTGAGTTCCCAGGCAGAGTCTCTTGCTCTTCCCACTCTTTCCCCCAAGTGGAAGGGGTCTTTATGCTTGGCTGCCTTGAGTTGGGGGAGGGGTGATACCTGCAGTCCTGTGGTCGGCACAGTTGACTGCATTAGAACACCATGAAAGCCTGAGGCCTTCCAGATCAGTGCAGCTTCCACCGGGGGTCACCCAAGGCCCATGGCCACCACCATGTGGCTGCTGCTGATGTTTATTCAAGGCTGGAGGCCACATATCAAGTGGTGAGTTCTGCTGGGAGTCAGTTTATCCCACCAGGGTTGTAGATTCCCTTCTGGCCCTGGGTGGGTCAAGAAACACCATTCAAGAGCAAAGACCTGCAACTGAAGGCTTTAGGATTCTCCTTGTTTTTTGGGTTTTTGGATTTTACTGTGGCTGAGCTTGTATTCATTTGCAAGACAAAGTCTTACGTATTTTTTCCTCTCTTTCCCACAAGTGGAAGGAGTCTCTGCACTGCGTTGCCTGGAGTTGGGGGAGAGGCGATGCATGTACTCTTGTCATCGCTGAAGCCAGTGTCGTGCTGGATTGCATTCCAAGCCCAGTCTCTGATGCCAGTGCAGCACTGGGGCTTGCCCAAGTACTATAGTTGCTGTGGCCCAACTGCCACTCAAATTTATTAGAGGCCCAGGCCACTTTATTCCATAGTTGCTGAAGTAGGCTGAGACTTGGCTTTCTCCTCCTGGCGATGGATGCTTTCCCTCTGCCCCAGGGATGGTCTGTTTGCCCCCTCTGTGAGCACTGGCAGAATTCTGTCCAGTGTTGTGTTCCACTGTGATAGGGCAGCACTGAGTTCCAATGCAGTATCCCACACTCACTTCACTCTTGCTCTTCCAAACACATAGATTCTCAGTGCTATGACGCCTGGGTTTGGGGGAGGAATGTTGTAGGTAATGCAAGGTTACCTAGCTTATCCTTCCTACCCTTTTAAATGCCTCTCCCTTTGTTATTATGTTAAAGTTAGATACTGTGATTGCACACCTGATTTTTTTGTTTTTAAAATAGTGTTTTCTTGTGTTGATAGTTGTTTAATTTGGTGTTCCTGCATGGGGGATGATTGCTGGAGGGTTCTATTTGGTCATCTTGCTTTGCCCTTGTCTAAAGTCAAATCTTAATTACAAACATGTATTTTTTTTTCTTTGCATTCTACAGATAGGGAAGCCTGAATGATAGATAAATATATTAATAAAAGATTTGCAAAATTACGAAAATGTGACATTTTGACATTGAGAAAATCTTGACATTAAAATCAATATTTTAGTTACGTCATCTGCCTATGAAGCCTTATCTTTAGCTTCTATCCTCAGTAATTCTTCACAGCAGTAAACTTTCTTTATTGCTAGACTAAACTATTTATGTGCAAGTAAAATATTGGGTAAAAATAATTAGGTAATTTGGTATTTAATGAAGTTGTTCATTTCTTCAGTATTATTCAAAGGCCTGTCACATTTTATGGTAAATATTGATTAAAAGACTAAGTAGAATTTGTGTTTGTTGCTCATCTTAATACCTTGGTACCTGGATATCTGAAACTCATGGTAGTATATTAAACTCTTGGATTGTGAGGCCGTGTTTTAGTACACCTTTCGTAACTATTGTCTGGCCAGCAGTTTCAAAATGTAATAGCTGCACTGGCCATTGATGCTGGTGGAGGTGAGGTAGTTGCTAGAACAGTTGATTCACTCTGCCAAGAACAAACAAATAATGGCATAAAAAAACAAATTATAGTTGTAAAGAAGTGAATATGACCATATGAATGGTTAAGAAAGCTTATAATAGTTACAAAGGTTAGAGATTTAAAACTCCAAGCAGAATTTGGGCATTAAGTATATAAAATCAATGAGGAACACAAAGCTGTAACATGATTGGTGGAACCTTTTTTTAAAGCCAGAGTGATACAGGCAAAGAAGTGACAAGGCTGTGTACTTGATTATTTTGAAAGCTGCTGTGTCCCATAACTATGCTGTTAAATTTAACTGTAGCACCCAGCTGCTATCTGTATACTTCACTTCTTTATGGAATCGATTCATTCAAAATCTTGGCAGGAGATCCATAAGTGCTAAACTATTCAAATAATTCTCTTGCTTTCTATTTCTCTTTCCTAGAATTTGTTTCCATAAGATTGTAAAAGCAAAACTCAGATCACTTAACAGCTTTTTTCTTTTCTTCCCCCCCTTTTAAAATTTAACAGTTATTAAATCCTCAGTTGCAGATTGAGATTATTTAAAGTAATCCTTAAACTGTCATAATTGCCTTTCCAGTTAAATTAAAATCTGGACAATTTCTCTAAGTGTGGGTGGTTGGCCACTTAGTATTATCTGGGAAGTTAGTTTACAAGGTAGATTCCTAAGTTCTATCCCAGGTCTGTAAAATTAGACTATCTCAAAGTGGGGCTCTGGAATCTATATTTTTTTACAAACTTTTGGGGCAATTCTTAGGCACCCTTAATTTTTGGAGTATCTGTACTTAGAAGAAACTGTAAAGAATTGCTAATTTTGGTATCCTAAATGTCATCAAATCTGTATATCTGATTCTTTTCTAAAATCTGGCCCAAATAGAGTCACATTTCTCATTTGACTATAGGTTCAGAATTTAACAAACTTAGTAAAGTACTCCTGGAACGAACTTTAGAAATAATTGATTCCAAACTTAGATACTGAGTTCCTAATGTTGTGCACTTGTAAACAATAAGCTCTGCAGTATAACCAAGGTTTCTTCAATTATTTCAGTTCTCTCCATTGTAGGCTATTTCCAGAAATTCAGTTCTTTGAAACATTTTTATTTCAACCTGGGCAACATAGTGAGACCCCTTCTCTACAAAAAATTAAAAAACTAGCTGTGTGTGGTGGCATGTGCCTATAGTCTCAGATGCTTGGGAGGCTGAGGTGGGAGGATCACTTGAACCTGGGAGGTCAAGGCTAAAGTGATCCGTGATCATGCTGAGAGGTGAAGCCAGCTGGACTTCCTGGGTTGAGTGGGGACTTGGAAAACTTTTCTGTCTTACAAGAGGTTTGTAAAATGCATCAATCAGTGCTGTGTAAAAAGGGTACCAATTGGCACTCTGTAGCTAGCTAGAGATTGGTAAAATGCACCAATCAGCACCCTGTAAAATGGACCAATCAGCACCCTGTAAAATGGACCAATCAGCACCCTATAAAATGGACCAATCAGCACTCTGTAAAATGGACCAATCAGCAGGACATGGGCGGGGACAAATAAGGGAATAAAAGCTGGCCACCCCAGCCAGCTGCAGCAAGCTGCTCCAGTCCCCTTCCACAACGTGGAACCTTTGTTCTTTCACTCTTCGCAATAAATCTTGCTGCAGCTCACTCTTTGAGTCTGTGCCACCTTTTTTTTTTTTGAGATGGGGGCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCCCACCACCATGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGACCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGCCACTGCACCTGGCTGGGTCTGTGCCACCTTTAAGAGCTGTAACACTGCAAAGTTCCACAGCTTCATTCTTGAAGTCAGAGAGACCAGGAACCCACTGGAAGGAACCAACTCCAGACATATCTTGGGGGCTTGTCTGGGATATTGCCAAGTGGTGAGTACTATGGGACCCCTTTTGCTTGCTATTCTGTCCTATTTTTCCTTAGAATTTGGGGGCTAAACACTGGGCACCCATTGGCCAGTTAAAAGTGACTAGCACGGCCACTGGACTAAAGACATGGGTATCAGGCTTTCTGGGAAAAGGCTAACAACCCCTGACTCTTTGGAGTTGGGAGCATTGGTTTGCCTGGAATTAGCTTCTGCTTTTGCTGTTCTTCCGGGCTGAGCCGAGGGTTGACAGGGAGGAAAGCCATTCAGCTCTGAGGTCCCGACAAAAGTTTCGTTGACCCTGCAGCCATGAGCAGAGCTCTCAAAGTTAAGTCGCCCAAGCGCAACTCGACCATCTATCCTGTATATCCTGACCCTTGCCTCATGGGTCCTAACGCCTGTCAGACAAACTTCCTCCCACCTCTCTTCTCCAAGGCTAGTCTCGCTTCTAAAAACCACTCCCTGTCTCTGGTGCTTTTCTAGTTTCTCCTATAAGAATGATTTCTAGTATAAATTTCAGGACTCTGTTCCTTTAGGCACCCAGGCCCACCAATCAGAAAGACATAATTTTTGCCCAAAGCCCCATCGGGGGTGGGGAGACTATCTGGAATTTTAGGATCCCCCCTCAGGCAAGCAGGCCTAACAAAAGCTATTCCTGAAGCTAGGATGTGGGGAGCCTCAGAAATTATATCCTTCCTATTCATATGACGAGAAGTGAGGACAAAAGGCGTCACTCTTCCAAAACCACCTCTGGACACAATGCCACTGCATTCCTGTCTGGGCAACAGAACAAGACCTTGTCAATCAATAAAATAAAATAAAATAAAACTTTGTTTTCCTCAAATGAGTGTTTTGAACTTAGGACTTTCTGGAATTTGGTAACTGCCAGTTTTGTGCTTCCATTTAGACAAACAAATCTCCCCAAAAAGTGCTTTTCCTATATTGAGTTTGTGATTTGGTTTCATGGCTATAAGAGAAGTGTCATATTATTGCATATCTTATTTAAGACTATACACTTCAACAATTTCTACCTGTGATTTATGGAATTAATAAATTCAGGGAAATGATAAAGTACAGTTCTTAGAACAGTCTTCAGCAAAACTACTCCATCACTTTTAGGAGTCAGTGAATCTCTAGAGCAATTTGAGATAAACACTGTGAAACTTTGGTGCAGACCCTTTTGACTTTGGTGCATCTTGTCAGTACCCTATGTGACTCAGAAAAATGTTTTAAGAGTCATTTGAATCAACATTTACATAAACACGAAATCTTTCTGTAGAGATTTTAGATAGAGGCAAATAAGACTGAGTCTCTGGGCTGACTTCCTCATAGTCTTAAACCAGTGCAACTCTATCCATGAAACAAAATATTCTAATAATAGGATAGACATTTTCGTATTGTATAGACAGTAACAGAAATAGTCGTTTTTCCTCCAGTCACTCCCCATCTAATTCGGAATAAATGCATTCATTACAAAGACTTATGAGATCCTCCAGGCTCAGGCCTTCTGCTCCCTCATTGCCTTTGTCTTCTGATCTTCCTCTTGCTCACTTTGTTGCAGCCACACCTGCTACACTTCCCTTGAGCTTCTGCCTTGGAGCCTTCATACCTTCTGTTCCTTTTGTCTGGAACATTCATACCCTAGGTATCTGAATGGCTTAGTCTATTACTCCCTTCTGGTCTCTGAATGTTACCTTACCAAACAGACTGTTTTTGAGCATTTGTATAATATAGCAACCTCCCCCAACACTTAGTTCCACTTATTCTCCTTAACCTGCTTTGTTTTTGTAAGACTTCTTAGTATATTTATGTGTATTCTTCTGATTTTGAATTTTTACTATCATTTCAAAATATAACACTTAATATATACAAAAGAATATATGTAACTTTAATATATTAATGAGTAATTAAAACATTACAAGTGTGAGGATATAATGAAACCCATGAACCAATAACTTAACCCAAGAATTAAGATATTACCATAACTTGCATCGACTTATGTGATTTTCTTCTATCCAGTCTCCCTCCCGTTCTGCTGAAGTCCCCACCATTCTGTTTTGTTTAAAACTCTTTTTGTGGTTTTACATATTTTTTAGTAGTTCTATTACGTGCATGCATTCTTTCAATCTCTCACACATGCATTTGTGCCCAAAAACATATTGTTTTGCTTATTTTTCGAACATTATAAAGCAGTGTTGCAAGGGATGTCCTAGGATTTGCTTTTTTCCTTCAGCTTTGTCTGAGATTCATTATTGTGGTTGGTTTGGCTGTTGTTTCATTCTTTATTGTTATTGTACAATATTTCATTATGTAAATATAACACAATTTGTGTATCCATTCTCCTATTGATGGACATTTGGGTTACTCCAGTTTTTTTTTTGGCTATTGAAACAGTGCCACTAGGAACGTTTGTGGCTATGTCTCCCTACTGCATAAGCTCAAGAGTTTCTCTAGAGTATATGCTTAGGAATAGAATTGTTATGTCAAATTGTTTTTAGTGGTTGTACTAATTCACTATTGTGCGAACAGTATGTAATATCTGCATCCTTTTAATCCTACTAGTACTTGGTATTTTGGGATGCCTTTATTGTTGCCAGTCTGGTGGGTTAAAGTGGTACTTCATTGTGATCTTGATTCACATTTTTTATTGCTGTGGAGACAGTATGCATCTTTCCATGTGTTCTTCAGCCACTCCTGCTTTTTCTATTGGAAAAACAGCAATAAGGCTGATGTGGCTGAAGCACAGTGAGGGAGAAGGGGAGTGGTGGGACATGAGGATGGGAGGTAGCTGGGGTGGAGGTGGACTAGGTCATAAGTCTTGTGAGCCATGAAAGTAAATAGATTACTCTGGCAGAGTATGTTTTCTAGAAAATAGACTACTGGGGAGTAAGACTTAAAGCAAAGAGAGATGTTAGAAAACAGTTGCAGTAGCTAATGCTGTTGCTCAAAATGGTAGCAGGTTTGGGGAGGCAATTGTTATTAATAAAATTTCTGATTAGCTTTAGTTCTGTAAAAGTTATATATGTTTTTGTATAAGAGCTACGTATTTCTATGTGCTAGCTACATATTCACTTATTTTCTTCTAAACATACTTTGAAGTTCCAGAATTGTATTATTTTTTCATAGTTTCAATAGCAATTTCATGGCAAAATTTTAAAAACCTGTTAGATTTATTCTTAAAATGTAATGATGACTTTTCTATTGCCAAAGATTTGAAGATTAATTGCTAGTGTAATAATTTTAGCATAATTGCATCGAATGGCTTTTATGAACCCAGCAGCTGTGGTTACTCATATTCAGCAGCTGTGGTTATCCTGACTCAAATGGTTTTTCATCAGTTATTAGAAAAGTCACAAGTTCTTGGTAAATTCATTTCTGAAATCGGAAAGCTTAAGTTTCCATTTTTTCTCAGATATACTCTATTTGAATATATTATCCCATATTTCAAGAGCATATTTTTAGCCACAACTTAGCCAATGGCAACATCAGCAAAAAGAGATAATGTATTTGTACTTTTATACACAGTGTAATAACTTCTGATTTCTAATTGTAGGCAAATCTGAATTTGAATACTTTTCATATTTTGAGTTCTAAGACCGTTAGACAAAAGCAAGTTGACTGAAGGATATCACCAGTCTGTTTCATTTTGTAATGTACATAATGATGTTATATTTTTCCTTTTTAATATTTATGTAGAAATAATGTATTTACTAATATCATAGACTTGATTTTCAAACTTTTATTAGGTTATTATTTAGTAAGATATGAAAGTGTCTTTTTGAAAATGCAGTTAAAGGGAAAGAACTATGTACTTATCTTTCCTTTGTGAATTATATTTCAAGATAACAAAAGAAAAGTTGATACAACTCTTCCTTATTGAATAATTCTAGATAATAAATATGGCAGGAATGATGGAATTTGAAAAATCATTATTTCACAAACTCTAATAAAATAATTGGTTCAGACAATTATTATCAAAGGTTGAATCCATTAGATGGAAGGTTGATGGGGGTGTTTGCAAGAGAAGGATAAGCTGTCACCACCTGTACCCTGTGATCAATCTTTGCATCACAAAGAGGAGGCATTCAGACACTATGTGCCTCCTAATGTGATGAAATATGAAGAACAATTTCCAAAAGTATTCTTTCAAAAAGAGTAAACCTGAACCTAATCAAGTTTTAGAACTAATTTACCATTAACAGGAAACACAGGTATAAAAGAACAAGTTAAATGACAACACTGGAACCAGAATGTGGGACAGTTTGCAAGATAACGAACTCAGTTTAATCAATAGGTTAATGGCAGGCAAAAGAGGCAAGCGAGAAGGGCTTCTCTATATTAATAAGACTTATAATACATAACAATTTATGACCTTTCTGTGAATCCTGATTTAAATAATTCAATTAAAACAAATTTTGAGACTGTCAGAGAAATTTAAATATGGACTGGGTATTATGTGATGCCAATTAATTTTTGTTTCTTGGGAGAAGTAATGGCATTATAGTAGTTATATCATTTTTTTTTTCTTTAGAGATACATACTGAGTATGTAGGAATTAAATAACACGTGGTCTGGGATTTGTTTTAAAACGCTTAAGGAATAAAAACAAGAGGGAGATGAATGAAGCAAGTGCTGGAAAGTGTTGACAGTTGTTGAATCTACATTGTGGGTATCTTTGGGTTTCTTTGAAAATGTTCATAATAAAAATCAGTTTTTGTGTATCTTTGAAAATGTTCATAGTAAAATTAATATTTAAAAGTTTTTAAAATGTCGTGGATATTTACATGTATGTTCTTGACCTTGTCACCCACCTTTTAGTACTTTCTTTTACACAGCTATTAGCACTTTTCTCCAAAAAAGTCTTGCGGGGGAGGCAGCATCCCCTATTACTGCAGTGTTGAAAATGGCAACCACTTTTCAAGTCCCCCTCACAGTTAGAGAACAGTCATGCCAGGCACCAACCCCAGTTTCTGGATAGGGAACTAGTGAATCAAAGAGGCAGTTTCTTTGCTCTCTTGAAAGGCAGTGGCAAACTAACCTACACTGAGAAAAAGGAAGTCGGTGATTGCCTAGTGATAGGGGAGGAAAGATTAGACGGGGGAGGGATTGCGAAGTACTAAGAGGTAATTTTCGAGGTGATGAAAAATGTTTATTATTTAACACTAATTAGCAAATTCTAATTCCTGGTAACATCCAGAGCTGAAGGCAAAGGTGATAGAAAAGCCATAGCTTCTGTGTTCAGTGGCACTATCAGGTTTTCCTTTCCTTTTTCCACCAGAATAACCAGTGTTTAACTGACCCTAGCCCAATTTTTGACTTTCCTGATAATTCTGTAAACTACCTAACATTGTTTTAGTAATTATCTTTTTTTACTTTTTACAGCTTTATTGGGGTTAATTAGCATTCAGTAAACAGCACATATTTAGTGTGTATATTTTGGTAATTTTTGAAATATGCATATACTTTTGAGGCTATCGCCACAACAAGATAGTGAACATCCCCATTACCCCCAAAAGTTTTCTCTCAGCACTCCCTCCTCTTTCTTCTGCCCTATTCCCAGGCAACCACTGATTTCTTTTTTATCAGTATGGATTAGTTTGCATTGTCTAGAGTTTTATATAAAAGGACAATACAGTTAAGTGTTCGGTTTTCTTTATGGCTTCTTTCTCACTCAGTGTAATTATCATAAGATTCATCTGTGTTATGTATATTAGGAGCTTTTCCTTTTTATTGCTAAATAGTATTCCATTTTATGAATATACCACAATTTGTTTATCCATTTAGTCATTGAAGATATTAGTTTGTTTCCATTTTGGGGCTCTGATATGGTTTGGCTGTGCCCTCACCCAAATCTCATCTTGAATTCTAGTTCCCATATCCCCCATGTGTCAAGGGAGGGACCTCATGGGAGGTGATTAGATTATGGGAGGCAGTTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACGAGATCTGATGGTTTTATAAGGGGCTTTCCCCCACATTGCTCTGCACTTCTCTCTCCTACTCCATGTGAAGAAGGACATGTTTGCTTCCCCTTCCACCATGATTGTAAGTTTCCTGAGGCCTCCTCAGTCATGCAGAACTGTGAGTCAGTTAAATCTCTTTCGTTTATAAATTACCCAGTCTCGGGTATTTCTTTATAGCAGCGTGAGAATGGATTAATGCAGGCTTCTACATTAAGCTGCTGTGAATATTTAAACATTGATTTTATATCTTCATATGAACATATTCTTTTATTTCCCTTGACCAAATACCTAGTAGTGGAATGGCTAGATTATATGACAGGCATATGTTTAATCTTTTAATTAACTGCAAAACTGTTTTCAAATGTGATATATAATAGATATTATTTTAAAAAATAAATAGATGAATGTATTAGGAAAGATGAGGTCTTACATGTATTTCGTTGTGTATATACATGATATAGTGCATTTATATGTTCCGTGTGTCTTATTTGTATTTTGATAAATAACAAAAGTATATTTTTACTATCAGTAGGTAGGATTGTTAGAGCCACTAATTATTCAGGGTGCGACAAAGTATCATCTCAAGGCAGATACAGCATTTCATATAGTAATTAATACCAGATCTTATTTAGTATTAACCAGTTATGCACAAAATATGAATATATGTGATTTATAATGAAGTGTCAGCCTAGTACTGCAAATAATATAGCTCAGTATTTGAAAACTGATAGATTCACTGTGTGAGTATGAATTTATAATAAATACACTTCGGTGACAGGTTCATTCTCAATTTGCTTATGTTAAAATTGCACTAACTAGCAGATCCTCTGAGATTTATTTCCAGGCTTTTAATGTCATATTACCTTGAAAAATGATGATGTGAGTTCTTAACATGGTAGGGGTGCCTGTACATTTCACTTTTGATCTTGAGTGAAATCTCATCTCACAAATCACCAACATAAATTACAATTTGGTCTTGTGTGTGACTGGCATAAATATATTTTAGAGACATGAGAAATACAAAGAAAAGTTTTCCCGCCTCCCCCTTTATCCTGCATATGTTAACATTAGAAAGATAAACCACTGCATATTCTCCTGTCTCATTTTAACATGTTGGTATGTAGTTTTGGGGGGATATGGATTCTTATGTATGCAGGGAAATTTTATATGGTTTGATACATCTTGATGTGTTTGGTGACACAGTTGAACATCATCATTGTACATGGCCAAGCATGCACAGGGAGCATGAAACTATTAAGGGGTGATGAGAATATTGCCTAAGTATATTTTTGAGGCCCCCAAATCATTAAAATAGAATATTTGGGCTGAAGTTAAAAATATAATATTGTTTAATGAATTTCTATTCATTTCAAAAACAGAAGATACATATTGTAAATATAAAAAGTATTATAAATTGTTTTTTTCTGCAAATTGTAATATCTGAGAAAACTGATGATTTAGTATTTTTCCTTTATAATTCTTAGACATTTAATTGTCTTTATTTGTCTTCTTGGGATAGGTAGATCCATATGTGCAGTGTTGAATAAACATAGAGCTAGTTGGCATCCTTACCTTGCTATGAGTTTAAAGGGAATGGTTTTTAACATTTTATTATTATGATATTTGCTTCATTTTATAGATACCATTTATCAGGTTGTATTAGTTGGCTTGGCCTGCTATAACAAAATACCACAAATTGAGTGGCTTAAACAACAGAAATTTATTTTCTCACAGTTTTGGGGGCTAGAAGTCTGAAATCAGGGTACAGCATACTCAATTTCTGGTGAGGCTGCTCTTCCAGGCTTGTAGACAGCTGCCTTCTTTCTGGGTCCTCACATGTCCTTTCCTTTGTACATGTGCACAGAGAGTGAATGAGTGAGGTCTCCAGTGTCTCTTCTTCCAGGGACTCAAATCCTATCAGATCAGGCCCCGAACCCCTATGACCTCATTTACCCTTAATTACCTCCTTGGAGGCCACTTCTCCAAACACAGCCATAATGGGAGTTAGGGCCTCAACAGATGGATTTTAGTCCATAAATTAAGTCCATATTTATGGACATTTAGTCCATAAATTAAAGAAGTTTTCTAATATTCCCAGTGCTTCCCTTAGTCTTCACTTTACAGCAAACTATCCCAAAACTTAGTGACTTGAAGTAATAATGTTTTCTGCTTTTTAAATGATTCTGTGGGTTGGCTGGATTATTCCTTTTTAGTTTCACTTAAGCTTACATGTAAGGTTGCCTTTATTTGGAGAGTTGACTGGGCTGGAAGGTTCAAAATGTCCTTACTCATGTTTGTAGACGGTGCTGGCTATTAGCTAGGGTGACTTGATTCTTGATGTGGCCTTTTGTCTACCAGATGCTAGCATGGTATATCAGGGTTAAGTCCGGAAAGTAAACTGCATGTCCTTTTGAAGTCTAGGCTTTGTAAATTACATATTGTTTTTGCCGTATTCTGTTAGTCAAAGCAAATCCAGTCCAGATTCAAGATGGTGGGGAAGTAGATATCTCTTGATATGGGAGGAGAAGAACATTACATTGCAAAGGATGTGATTGCAGGAACGCATCATTTATCGAAGGCTATTATTATAACAATCTCCCAAATCTTTGCTAAGTTTGCTAGGGGTAATTTGTTAAGAATTTATTGATGAATTTTATTGTCCGTGTTTCCTCTAAATATTGAGAAGATTATATATTTTTTCTCCTTAATTTATGTGATGAAATATAGTTTCTATGGTTGAACCATATATTCAGTGTCATCCTGTATATCTTTTTAAAAATGTTTGATGTTTATTTCTTGAATCTGTGTTCAGGAGTAAGACTGGTCTTTGAATTTACATTTTCTTTGGTATTAAATTTTTACTAGCCTTTGTAACATTATTTGGAAAATGTTGCCTCATTTTTCTAGTCTCTGAAAAAATTATTTGTTTTAAAGAATGCTAATAGAACTTAACATGTAAACTGTTGGTGCCTGAGATTTACTTTGAGATAGTATTTTTAACTTCTAATTTAATTTTTTGACCAACTATAGCCCCACTTAGAAAAACTCCACCATTCTTGAGATTGTTTTATTAATTTACATATTCCTAAGAATTTCTCTATTAGCCAAATTTGCAACTTTGTATGGTATAAAGTTTAAAATAATCTCATGGCATCTTTTAGTATTTTCTGTATCTGTAATTTCCTTTAAAAGTAGAATTTTAAAATAAAATTTTTCCATTTTTAATTTTACCATTAGCTATCTACCATTTAATCTGGTAAGAAATCTCTTAATTTTATTAGTCTTTTCAGTGAACCAACTTTTGGCTTTTTAAAAACTCTGATCTCTTTTGTATCTGTTTTCTATTTAAATTTTGTTTCCCCTTATTGTTATATATAGCTTTCATCTATATTCTTAACTGTGTAATTTATAAGTTTTACTCAATTTTTAGCATTGCTTCTTTTTAACATAAGATTTGCTACTATAATATTCCTCCAGAATCTCATTAACTGCCCATTCACTATTCTATAAATTTTGATATATGGGTTTTTCATGAACACAGTATTTTAAATTTTTATTAAAATTACTTACTTGACCTTGAGTTATTTAGAAATGTGTTTTCATATTTCCAAGTGTAGGGGGTTAATTTTGGTAACATTTTACCAATTTCTAACAATTACATTGTTGTCAGATATGATCTGTGTGATATCAACTCTTAAATTTGCTAAGACTAGCTTTATGGCCTAATACGTGGCTGATGTTCTTAAATGTTCTCTGTGTGCTTGAAAGAATGTTCTTGCTTTTACACTGTTGGTGAAAATGTAAATTAGTTTGACCCTTGTGGAAGACAGTGTGGCGATTCCTCAAAGATCTAGAACCAGAAATACCATTCGACCTAGCAATCCCATAACTGGGTATATACCCAAAGGATAATAAATCATTCCATTATAAAGATACATGCATGCATATATTTACTGTAGCACTATTCACAATAGCAGAGACATGGAATCAACCCAATGCCCATCAATGATAGACTGGGTAAAGATAATGTTGTACATGTACACCATGGAATACTATACAGCCATAAAAAGAAATGAGATCATGTCCTTTGCAGGGACATGAATGAAACTAGAAGTCATCATCCTCAGCAAACTAACACAGGAACAGAGAACCAAATACCATATGTTCTCCTTCATAAGTGGGAGTTGATCAATGAGAACACATGGACACAGGGAGAGGAACAACACACACAGGGCCTGTCAGGACTTGGGGGAAGGAGAGCATCAGGATAAATGGCTAATGCATCTGGGCTTTATACCTAGGTAATGCGTTGATAGGTGCAGCAAACCACCATGGCACACATTTTCCTATGTAACAAACCTGCATGTTCTGCACATGTATCCCGAAACTTAAATTTTTTTTACAAAAAATGATTGTCTGTTCTCCAGATATTGGATGTATTATATGTCCCTTAGGTCATGCTTGTTGATTGTGTTCAAATTTTCTATATGTGTTCTGTATGTGATCTACCAATTGCTGAGAAACCCACATTAACTGTCCTACATAATACTAGATTTCTATTTCTCTGTATCTTCTGGTAATTTTATTATCTACAACATCTGTGTTTTTAAGTATTAGGTTGGTGCAAAAGTAATTGCAGTTTTTGCCATTACTTTTAATGACAAAGTATCTATATATCTATATATAAAGATACTTAGAATTATGTCAATAGATAGTGATGCTTTTTTCCCTGTAATACTTTTTGCTTTAAATTTTGTTGAGGTTTACTAAAAAAGGGTTACCTTTTTCATTCTATTACCTTTTAACTTTGAATGTCCTTATGTTTTAGGTGCCCACTTTTAAATATATATACATATGTTTAACTATTAACATATAAACATATTTTTAGCTGTTGTTTTTAAGTAATGTTTAAGCAGTTGTTTTAAAGTAATCAATTACTGAAATTATTGATTTATTTGGATTCATTAATATCATTTTTTAAAAATCTCTTTGGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGGGATCAAGACCATCCTGGCCAACATGAGGAAACTCTGTTCCTATTAAAAATACAAAAATTACCTGGGCATGGTGGCGCATGACTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCGATGAGCTGAGATCGCGCCACCGTACTCCAGCCTGGGTGACAGAGCCAGGCTCTGTCTCAAAACAAAAAAAAAAAAAAAAAAAAATCTCCTGTTTAGCCTGCTGTTTGGCCTGCTGTTTTTTGTGACCAAGGGCCTTCTACTCTACCCTTGTTTGCATTCTTTTAGATTCATTTTTCCCCTTTTTAAAAAAATTCTGGGTTTTTTTCTGTTTTGGAAAATTTATTCTATACTTATTTTTTCCCTCAATGGTTATACTAAATTTTAATGTGCCATCCTTCCATACAATACGGTGATTTAGAATGCTGTAACTCTGGTCACTTTATCCCAACTTAAATATGATTGTTTTTTAGTGTTTTATTTCTGTTGTATATTGGGATCATACTTCAATAGATTTATAAATTTCTTAAACATTTTCTTTGCTTACCATTCCTTTTTACTTATTAGACTTTTTTTTGGATGATTTTCTTCTAGCTAATGTCCATGGTTTAAATAGTGAGGCTCTATTGATAGTGCACTCTCAGTTTTGTCTCAAAAAAACTCATATTTTATATTTTCTCAAAAAATAATTTTGCTAAATTTATAACAATGCTAGGTTGACAGTCTTTTTGTCAACATGTTTTGCCTTCCATTGTTGCAGTTGGGAAGTGTTTGTTTGGAATAATCTATTATTTCTAGCTTCTTGTAAGATCTTTTTTTTTTTTTTTCCTCAATGTTCTCCAATTACATTGTGCAGTACCAGATGATTTCATTTATTCTGGTTGGGATTCTTTGACTTTTCTGAATATGAGAAGTATTGTCTTTCATCAGTTCTGGAAAATTCACAGAAGGTTTCTTTTTAAAAATTGCCTCTGTCTCCTTTTATTAGCTCTTCATATAGTAATAACTCTGAATAGGCATATATTAAGAGTTTTAATTTTCTTCTCCATGTTTTAAAACTCTTATTTATTATTTTATGTCTTTGTATTTTTTCTCTTTTGGCTTTAGCATTTAAGATTTTCCTTATTTTCCTTGACAATTCTGTCATAAATTTTAAGTCATTAGTTGATGATGTTCTTGCTTATTCATAATTTTGAAATGTGCTTTATCATAAAATTTTCTCCAGAAATCTAGTCTGCCATATTCCCTGTAACAAAAATGTAAATTATTTAATTTCTTTGACATCTATAAAATGAGAATGAGTGTTTATATTCCTTCTTATTCCAAAAAAGAATTACTGGCAGTGACTAACAAAAATGTAAATAATCTACTAGGATAAAATCAGTAGTTGAGGAAATTAGTGTAAGAGAAAATTAGGATGGGAAAATAAAATAAAACTAAGGAAACAGTTTATGCCAAATAGGACAAAACAAAAAAGCTTGTACTTTCTGTTCCTATAGAGTTGGTATTGTTTGATCAGAAATCATTTGGGGTGCTTCATGATATCCAAAGGAAAATACAATTATGTATAAGATTTAGTGTCTTACAATAAAACATACCAATTGCTCAGGAAACATAGGTGTTCCTGAAATGTCTCTCACTGGTCTTTGAAATAAGAACAGGTGAAGTAGGAGTGGGTTTCCTACAATTTCTTCATTTTAAAAGTTTGTTTTCTAAATTATTTTTTATTTTTTAGAGATGGGGTCTTGCTTTGTCATGTAGACTTGAGTACAGTGGCATGATGATAGCACACTGCAGCTTGGAATTCCTGGGCTCAAGCAGTCCTTCCAACTCAGCCTCCCCAGTAGTTACAGGTGCACACCACCATACCTGACTAATGTATTTTTAAAATTTTTTAAGAGAAGAGGTCCCAATATGTTGCCCAGGTTAGTCTCAAACTCTTAGCCTCAAGTGATCCCCCCACCTCAGCCTCCTGAGTTGGTAGGATTGCAAGTGTGAACCACTGTGCCTGGCTCCTTTGCAATTCTTATAGATCTCCCAAAGCATGCCAGTAGCATAATTCATGCTGTTAATTATGGGTAGAAAGTGGAAGAATTGATGTAAATATGTTGTTAATGAATTAAATTTTATCCCTTTTGATACCATTTTAAAGTAGTATTCTGAAAAAATTATATTTAACTGGCTTAAAATATGAAAAATAGATATTTTATTATCTATGCTTTATAAAAAGATAAATATATGTGGTAGATTTTATAAAAACAGACAGTTCATTGATACAAGTTATAGCCCTGTCCTCATTAATAAAAATGTTTTTATTTTATGTTTGAACTCCCTTTCTTATTACTGCCTGTTCTTTAAAAATTATGATAGTATTATTTAAAAAGAAATCCTCACATGTTATTTTTCTTGGACAGAAGACATCTTTTTTTGGTTGGTGTACATTTTATTCTTAAAACAGATTTTAACATCATGCACAAAAAAATTTGCACTCTTTTTCCTTTAGACATCTCTTTGCAGTCTTATTTGTTTTCTGTCATGTTTGACAAATTTAAAACACGAATAAGTGACAGCAAAACTTGAGTTAAAATAGCACTTCTGACTACCAACTAGTTGTGTTTTGTAGTGTAGCAAAGCTGATAAATTAGGTGCTATTGTAGGGTTCAGCTAGAGCAAATGAAAATAATTTATCAGAAAAACAAAAAAAATCAAACACTGAATCACAGTTTTTTAAGACTAGAGAATCAGTCAAACACTCTGGAAGTAACTTGAGTTTAACAGCATGATTATTGATGTTTAACAGTTAAATCCTACATTCATTCTGAAAGATTTATGGCCCTGATTTTGTTATGAACTTTACCAATGTAAGAACCTAACAAAATATGAAATATAGTTCAATATGTTACAAAAGGAAAAACAAATCACATTTCTCCCAAAGTAAAAACAGAAGTAGTCAACATGCTGCAAATGTTGAAGTTTAAAATGCTGACTTAGGAAGATATATCTGGTTTTTTGGATTTATTTTGTTTATTTTAGACAAACAGTGAGATAGCACAATTTTAATATTTAGGTATAATATGAAAAACAATATATACATCATTGATTTTATATATATAAACACACATATATCACATTATCTGTAACCTAATATTTAGCATAGTTAGTACTATTCTCGATCATTAACAAATGATTAATAAGATTCATTAATGTTCTTAAAATGGGAATCATTAAGTATTATTTTAGAAAAAAAAGTGAGTGAATTGGTTTTGATGAGAATAATGATAAAGAAACTGATAATAAGGACATTATAGAAGTGAAAGCCCTAAATAGGGAATATTTACCTTGCCTTGTTTGAATTGATTGACCCATACTTTTTTCATTAGAGCCTTGTATGTAGAGGAAACATTGAAATTACAACTTAAAGTTAATGTAGAGCATTAAAACATTTATAAATAACTTATCAACCAGTAATTATCATTGCTTTACCATTTTATAGGGTTTATTATGCTATTCTTTTTCCAGTCATTTCATATTTTTAAGGAAACTATCTTTGTCAGCATTTTGAGATTATGAAATTTAAATCAAAACAATTCCAGATTTCAGAAATGAACAAATAGAGACACTGAGCGGTTATTAATTATGAGTAATTAGAGCTTTCTGGATAAAGAGGCAGCTTTATGCCAGGACTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGAAGTGGGAGGATCGCTTGAGCCCAGGAGTTCAAGACTAGCCTGGACAACATACTGAGACATGGTCTCTACCAAAAATAAAATTAGCTGGGCATGGTGGGACACACCTGTAATCCCAGCTAGTAGGGAGGCTGAGATGGGAGGATCGCTTGAGCCCAGGGATTTGAAGCTGCAGTGAGCTATCATTGCGCTATTGCACTCTAGCCTGGGTGTCTGAGCAAGACCCTGTCTCAAAAAAATCCAAATAACAACAACAAATGAAGCATCTTTCAAATACAAGCCATTATAGTATACAATTTAAAAATCGGTTTTCCCCAACTTTGAGTTCTTTTGTTTTTTAAACTGCTTAAATAAAACAGTAAAATATTAAGCCAATTGAAGAGAGATAATAAGATTATAAACTGTTGACAACATTTTTGGTCTCTATTTTTATAAAACAAAATGTCTGTTTTTGTACCTATGTTCTTTCTTCCTGTTCGGCTGAAGTTCTTTTTATTTGTTGATACTTATTATTTTTTTATTCAGGTTATTTCACAGTTGAGGATTTTGGGCAGATCCATAACAGCTGGTTCCAAATTTGATAGAGAAATCTGGTCTAATGAACTTTCTCCTGTCCTCAATCTCTGGAAGAAACTAAACCAGGTTAGTAGTGGAATATTCTTCTGATTCTTTTGCTTTTTCTCCCGCATCGTAACCATGTGCTCCCCATTTCTGCCTGAGTCATACAAGTAATCACATTGCAGAGGTTCCTAACTGTGAAGTCATGGCCCATGACCTCCTTTCTTCATACCAGTGCACATCAAAGTTAGTATTTTTTACTCTCTCTTTTATGAAATAGATCTTTCCTTATCTTTAAATAAGTAATCATATTCACATAATTTCAGTTCTTCCCTTTAGCAGTTCATTCCTTGTCTTGATGTTTGATAATTTTCTTCCTCTCAGGGCTATGCTTCTTGTAACAGTTTCTGAGCCCAGTTTCCAACTTTTTTTTAAGTGACATTGGCAGTTTTGTATTTTCTAATGATTTTCCCAATTCATGCAGTTCTTAAAATGTATATACATAGTACAACCATGTAGGTATTCATATGTATATATATTATTATGTAATATAGCTATTTATTCTGAGAATAATGTGTGATTGTTTTCAGTTTTTACTTAGTAATAATATGAAAATGGAATAATTTGCATAATTGACTAAGTTCACCTCTTACTAAACAGAAAACCAATGGCAAAAGTAACCTTAATTATTGCAAAGATCTCATCTTACATTTTGGAGACATAATCCAGGTATTTGTTGGAAAGTTTCCTTCTCTGTGAAATACAGGTTAACTTGTTTGACTCAATTTCCAGAGTTTGGGGGAAGATTAGAGTCTACTCTGTAGTTTTGGCACCTTAGTCCCCTATAATTTTCTCTGCCTACTTCTGAATTTGCAAAGTCCATGTTGTTTTTGCTCCACATTTGATTTAACCTTAAAGCACAACTTATATCTCTGTTTTTTATAAGAAATCCGTTGATGTGATTTTGTAGTTTTAGTGATCATTAATGAAGTTGCGAGGACAGCTCATATTGCTAAGTGTGCAGTCTTCTACTAAGCCACTTTTTTTTAAACTACATTCTTTGAAGTTTTGCACTTCAAAGTTCCCACAGTTGACTCTTCCATCTGTGCAAAGTTTACTTGGATGTGTCATTTAGACTTCCTTGCACTAACTGCTTCTCTTCATCAGGCACATCTGATTTTATGGCTAGTCTCTCTCCCTCACTGCCAGCACACATACATACCTTCTTTGTAATTCTGAGAAAACTTTTTTCGATTATTATGTAAAGAAGACTATACGAATGACTTCAAAGGCTTACATGTAGATTATTTGCCTCCTGTGACCCAACTCAAGATTAGAAACTCACTGTATTCTCTGCCTTTCCCCAAACCCTCATTTACTTTTTTTTTTTTACTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCAAGGTTGGAAGGCAATGGCATGATCTCGGCTCACTGCAGCCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGTGCACACTACGGCACCCAGCTAATTTTTGTATTTTTAGTAGAGATGCGTTTTTACCATATTAGCCAAGCTGGTCTTTAACTCCTGACGTCAGGTGGTCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCCAAACCCTCATTTGGAATGTAGATATAGCCCATTACTAGTTCTCTGATGTTGGATTTCTGCCACAACACACCCCCTAATTACCTGATTCCTACATACAAAGGTAACAGTGTAGAATCTGGGTAGAGTACAATATCATAGGAACATTGAAGTATGTGGCCAGAAGGACAAATTATAGAATATGTTGCTCAAAGGTTTCATTTTAGGAGAAATTACTATTTTAGGGGAAATCATAATTTCCCCTAAAATAAAATTATGATTTTGAATGCTAATTAATTAATAATGCAGTTAAATATTTTGAATTCTCTTCACTTATATAACAGAGATAAAAATGGGACTTCCAGAGCCAGACCGGTGGGGTTCAAATTTCAGTTCTAGAACTTTCTAATTGTATAGCTTAGGAAAGTTACTCGACTTTTCTGTAAAATGGATATAATGATAGTACTTACTATCATTACTTACTATCATCACCAGCAATGATAGTATTCATGAGGATTAAATGCATTAATATATGTAAAGCTTTTATAATAGTGTCTGGCATATGTAAGCACTCTCTTTTAACTACTCATTTAACATTTATCAAAGGTACTTTTATTATGAATGGTCATTTATAATATATGATCATTCATTTTACCCTTTTTCAAGCAAATTATTATTATTTATTTCACAATATTATTGGTCTGTCATTCATTCAGAATATTTTAATGAGTACGTAATGTGTTTCAGTGATTTTTATGCTAGGGACTATGCAGAGATACTTGTGGACAGAATAGTCATGGTACCTACCTTGTGGAGTTTACAGTTAGTTCGTAAGAGAGATATTAGAAGATGAAGCAAGTAAATAAATAAAATATATTATTACAAATTATTGCAGATGCTGTGGGTGGAAAGCACAAGTGGTGTTATAATAAGGGAGAAGACCTATTTTGGCCTGGATAGTTAGGGAGTATCTTGTTTGAGAAGTGAAATGGAATCCAAGATATGAGCAATGAGAAGCTAGCCAGACAGAGTTGGAGGGGAAGACTATTTCAAGCCAAGGTGACAGCATACACAAATTCCCAGAGAAGAGAAAATGTTTGGCGCATTCAATAAAACTGAAAGGATGTCAGTGTGATTGGAGTATAGAGACCAAAGGATAGAGTAGATGAGGTAAGGGGATGCTATGATCTGAATGTTTGTTTCCCTCTTGAAATTCATATGTTGAAGTCTTAACTCTCAAAGTGATGGTATTTGTAGATGGGGTCTTTGGGAGGTATGATTAGGGCATAAGAATAGAGCCCTCACAAATAGGATTAGTGCTCTTATTAAAGAGGTTCCAGAGGGATCCCTTACCCCTTCCTCCACGTGAGGACACTTCAAAAAGACTGCCATCTGTGAATCAGGAAGCAGGTGCTCACCAAATACAGAATCTGCTGGTGTCTTGATCTTAGACTTCTCATACTCCAGAACTGTGAGAAATACATTTCTGTTGTTTATAAGACACCTAGTTTATGGTGTTTTGTTATAGCAACCAGAACAGACTAAGACAGGGATAAGGAATTTTATTCCAAGTGCAATGGGAAACCATGGAAGTTATAGGTAGAGTGGGTATGATCTAGTTTACAATTTCAAAAAGTTTTTGAAGAAAGCTGTTGTGTAGAAGATGGTGAGAAAGTAAGGAGAGCATTCAGGAAGCTCCTGCAGTAGTCCAGGTAAGAGCAGATGGCAGCTTACATTACGGTGGCAGAGCAGATGAAGAGCAGTGGGTGCCCTTGAGTAATGTCAAAATGTAGAGTTATTATGAGAAAAAAATTTAGAGTTATTATAGGGAAACAAACAAACAAAAACAAAAAACGAAAAAAGAACTGAAGACTGTGTTACCATAGAAACCTTGAGGAATCTTTAGTTAGGAATGAAATTGTTAACTAGGCCGAATAGCTTCTGAGAGGTTAAACAAAACGAGGACAGAATTGACCACTGGATATTCAGAATAAAAGTGGTCACTGGTGACCTTGACAAGTAAAGTTTAGGTGGAATAAGGAGACTGGAAGTTAGATTTAAAGGCTGACTAGAGATAGGAGATGAGGAGCTGGAGTCAATGTATCTAGACAATTCTTTTTTAAAATGTGCTTATAAAGGAGAGTAGTGAAATAAGGTGATCAAGATACAGGGCCCATTGTGTTTTTTTCTTAGAGAGGGAAAGTAAGTATTAGGTTGGTTTTAGGCTAATGAGAAAGATCCCGTTGAGGAAGTAGTTGAAGATGCTGAAAAATCGAAGCTCTTAAACCATTTAGGAAAACAAAAACAATGATTTTTGCTAAATGAGGGATCAATAATAAATATAGACATTCCTGCTTCTTAAATATATTAATTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTAGCTATAGGATCTTGATGTAACCACTTCTCTCAATGTGAAACCACTGAAGTTTAATCTTGCCTTGCTTTTCTGTCCTTACTTCTGGTCATATAGAATTCCATTGTTTCAGTATTTACAAGACTATTTGGTTTGTGTATTTGTTTTTAATTATTAGCTCAATCAAGATATATGAAATATTTTTCCCACTTTTTACAACTGTTGATATAATCCCAGATATTCCTTTTAGCTCTTCTCAATGTCACATTTCAAACCAATTCAATTAATCAAGTTTCAGCTTTCTGTCCCTTTGTTTTCTTTGACTTGCCTTAGTTGACCAAATAGAGCGCTACAAAGTTGCTAAACATCCTTGTTCCCAATTTAATCTTTGTATATCTACTCTTTAAATGATATAATAGGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAAGTGGGAGGATCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCACACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCGGGAGACAGAGGTTGCAGTGAGCCAAGATTGTACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAATAAATAAATAAATAAATAATATAATATAATATAACAGGCATTTCATTTAAGTATACTGACAGCTGGTCTAGGTTTAGCTTGATTTTTATCCTGTTATTTTGCACGAGATGCCTTAGTAATACTACAGTTCCAAGAAACTTTTCCAACCTGTTTTTCTTAACACATCAGAGGTAAATGTGCAAGAATACTTTAATTATTTTGAAGTAGTTTTCTCCAAAACTCAGCTTCTCTCATCTCTCCACTGCTTTTTTTCTTAATTAGAACTATTAGTTTATGAGAAAATCAGTTTATTTTAGATATGTTTATAAGTGAGCTGGAGAGGAGATCTACTAGTGTGTTATTTCAACTGAGAGAGAATGTTTATCCAGCCACTCTAAAGATTCTGGAATTTAGCAATTTCAAAATTGCTGTTAGGGGTTTAGATTAATACTCAATTTAAAATCTTACCACAAGGCAAACTCTTATTCTAAAAAAAATGTTTTCCGAGTTTGTTCTTTCCCAAACTTGAGCTCCTTTAAGGGAAATACTGATAGATATGGAATTAATGTGTTTATCTTTTAACAGCTAGAATTTTAGAATTTTCCTGTTAGGGATCATTAGGAAAAACTACCATCATGTTGAAACTGGAATATGGAGATCCTGAAATGTTTCTAGTGATTAAAGGGATTGGAAAATATAAATTAAGTCTACATTACTGATTGTGACTAATAATTTAAGGCATCCAAAAGTGTTATTGTAGCTGATTTAGTGTGCATTCTCTGCTGCTTTATGTTTAAGGGGAGAAAACACTATTATATAAAAGGTAAACACCAGCTAGGCTTATTTTGACAGTAGACACTATTTTATTTTCATGGAGCCAAGGACTCACAAAAACTCATGACAGATAGCATTATGACTTCCCAATGTAATAGGAGTCTTTTTTCCATATGAGGACCTTGAAGCTCCATAAGGCAAGCAAGAAATGCCATTAATAAAAAATATGCAAATGTCTGGCTATTCTAGATATCTGACAGAGAATGATGAAAAGGAAATGACCAAAGAAAACCAAAGATATAGTTAAGTTTTACTAAAATATTAACATTTTACATAATGTGAATACTATTAACAATATGTGTAAAGAATCTAATGCAGTACCTACATTTGACTTTTAAAATATCAAAATATTAACTTCAGTAGATTCTAAGAATTTAAGAATCTTAATAAATTATGAGCAAAAGGGCTAAATAAAACAGAAGGGTTCTACTGACAAAGGAGATAGGAGGCTTTCGTGAGAAGCAGTTTCCTTTTGATGATTTTTTTTTTTTTAAGGGCTGGTATTTGATTTGATTACTGAGTTTGTTAGAATAGTTTCGTAATTGGTCCTTGAAACATTTTTATGATGGCTGCTTTACAGTCCTTGTTCAAGAATCCCAACTTCTGTGTCATGTTGGTGTTTGCATCTGATAATCTTTCTTTTTAAATTTAAATTGAAGTTTTACTGGTTCTTGGTATAATGAATAACTTTGTACTATATCCTGAACATTTTAAATATTTGTAAGACTCTGGTTCGTATTTAAATCTTGTTGTTTTTTTTTTTTTTTAAGCAGGTAGTCAACCTATTTAAGTTCAGAATGCATGTCTTGATTCACTTCTATAGGTTGTGGTTCCAACATCAATTTGGTTTATAAAATATCTGCAGTGCTATTCTGGTCTGCCTCACTTGTGTCTTATATGACAGGACTTTACCACCACCACTGCCATCACTACCTCCTCCCCACAGTCTCCACAGAGCCAGCTGTGAGAGGGAGGGCATGCCCTCTCGTTACTTCAGTAGTGAAGTGGAGCCCAGAATTCCACCCACAGGCACTGCAGGGGAGGAGCAATATGCTTCTTACTTCAGGGAGCAGGCAGAAGTCAGAGTACTGCCCAGCATCTCCACCTGGCATCTCTCCTTCTACTGCAGGCCAAGGATGACTCATGACTTTTAATAAAATAATTATTGATTTCTTCTTCTTTTTTAATTTGTAGAATATTTTACATTGGTAAGTTAGAAATGTGCATTGGTGCCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCATTTTGGGAGGCCGAGGCGGGTGGGATAATCTGAGGCCAGGAGTTCGAAACCAGCCTGACAAACATGGAGAAACCCTGTCTCTACTGAAAATACAAAATTAGCTGGGCATGGTGGCACATTCCTGTAATTCTGGCTACTCAGGAGGCTGAGGCAGGAGAAGCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCATTGCACTCCAGCCTGGGCAACAAGAGCGAAATTCCGGCTCAGGAAAAAAAAAAAAGTGTATTGGCCTTTTGTAATTAAATTAGTAATAGAAGGTTGCTGGAGATTCTAAAAATAAATTATGTAAAGCCCAGAAATTGTAACTTTAATTCCTATTGGGCTGAATAAGTTAGGAACTCACAGGAATACCTAAGTACTTATATTCAGGCAAGGGTCCAAAATACATTTTTTGATCAGATTGAAATAGGGAAAAGGTGTCAGTTTAACTCATTGTTTAGATCTGGGCTGTTTCTAACCTTCAAACTTGTTGAATAGCCAAAGGAGAGAACTGAGATGGCAAAGCTAAGTAGATATAGCACTATAATTCTTTATTGTACAGGGAAAATTTTCTCTCTTTCCCCTTCAAAAGGTTTGAACATGCAAAGAAATTATATTTTGCAATTTTTAAAACCTACATCTTTGGCTTTATGTGTTTGAGCTATGTTCAGATTGGTTGAAACTAAAGGAAGAAGTGGAGCTTATGAATTTTGGACTAATCTGTAGCTTTTGTGAATCATGAACTAGTTCGATCATCTTTAATAGACGCAGATAAGAACAAATGCTCCTTTTTTGTGAAGTAGTTTTGAATGCAGGACAATAGAACTGGGAAATGAATTTATATCTTAAGAGAGAAAAATATTTAAAATTGTATAGGCATTAAACATGTTTAAACTTCCCTTTCTGTAAAACGTAGTCATGGAACCAAGGATAATTGAATAGCTAGTGTCTCCTTAGGTGGTACAACAAAAATGATGGATTTGGAAGAAGTGATGCAACTCTGGGTTTCATCTTTTGGTTGGAACATTTCCTTAATGTCTTGTTGGATTGAATGTAAGAGTCACTTTTCATTGCTAATACAGAAGTAAAGCAGTATGTCAGGCATTTACAATGGCAAATGCCAAGTTCTTGAGCACATGTGTGCATATATGAATGTGTGTGTCGTGTGTGAGAGGGAAAGCAAGAGAGTCAAAGTTAAAGTCTTTGTGGTCTATTATATTCATGCATTTTAAGGTAAAACACTAGATAATAAAGCAAAAGGGATAAGGACTCAAATCAAGGTTTATTTATAAATGAACCTTTAATAAGAAAAAATGTTTTTCATAGAATTTTTAGTTTAATATAGTTTATCATTATTTTTTATAAAATCTTATTGGTAAGATAATATAAAATGTTAAAATAGGACTGAAATGAGATATTTTTACCATTCATTCTTAATGCAGTTTAATGACGTAAAGCATGGAGCATGGAACTTCACTGCTTTGTTTAAAATTCCAGATCTGCTGCTTACAGATGTAATTCTGCCCATTTTCTTTACTTGCTTTGCCTAGTTGACTCCTCTGTGAAATGGGGATAATAGATTGTCATAATGACTAGATTAGTTAATACTTGTAAAGGACTTAGAACTGCACCTAGCCCAATGTTAAGTGTCCAATAAATATAAACTATTACTAATACAGATTTTAAAGATAATATTAGGAATGAAATTGCTCTGTAATCTCTCTGTATCCTTGAAATTTGATATCCCTTTGATAACTAAACAATTTAGAAGAGTGGCATAATTTTTCTTGCATTTATTTTAAAGATGTAATTAACAGAGAAGCTTATCCTAATAACGTAACAAAAAATAGGTCTGTAGAAAAATGTAGCTTAGTTTAATATCATGGGTCATTTTAGAATCCTAATTAAATTGCATATTAAGCAAGTTTTCAATCAACTACTAATGAAATTGTTCTAAATGAATTACTTCTCTGGGAAGAATAATAATCATTTTTAATGAATAATATATGAGTTGTGGCTAAATGTTATTCAGATATACACATTTGTATGTGTCTGAGTGTGGGTGTGTGTATACTGCTTTATCAGATGAGTTTTTTAAAAAATGTATTTCATTGTTCCAATAGTTATTGCTAGAATGCTTTTTCATCATTTTTCCACTAAATCAAAGATTCTGAAAGGAAATCTTAAATAATTCTTTATACATAATTATGAAAAGTTTTAAAATCATCTAGGACACCTACTCCCATTTTTATCAGGTCACTTTTGTCTTATTTATAAAGTAGAAACCCAGGTTTTTCTTTAGTTTTCAAAATTTGTTGTTACCTTTATACTCCACACATTGTAATTGTACATATTTTGGGGGTGCAATTTGATGTTTAAATACATATATGTTGTATAGTGATCAAATTACGGTATTTAGCGTATCCATCAACTAATGCATTTATCATTTCTTTGTGGTGAGAATGTGGAAAGCCTCTCTTCTAGCTATTTTGTGCTATGCTTTACTCACCCTATAGCTGTAGGGTACTGTAGCTATAGTCACCCTGCTGGGCAATAGAACACCAAAACTTATTCCTTATATCTAATTATAACTTTGTACTTGTTGAACAACCTCTTTTTATCTTCCCTTTATGTATCCCCTCCACAGTTTCTAGTAACCGCTGTTCTACTCTCTGCTCCTATGTTACCAACGTTTTTCCTAAGATTCCACATGAGTAAGATTATGTGGTATTTGACTTTCTGTGTTTGGCTTATTTCACTTAATGTAATGTCTTCCAGGTTCCTCCGTGTTGTCACAACTGACAGAATTTCATTCTTTTTTTTCCTATAGCTGAACAGTATTCCATGGTGTATATATACCATGTTTTCTTTATCCATTCATTGTTGCACATTTAGGTTAGTTCTGTATCTTGTGTCTTGTAAATAGTGCTACAGTAAACGTGGGAGTTCAAATGCCTTTTATACTAATTTCATTTCCTTTGGATATATACCCAGTAGTGAGAGTGTGGGTAGTTCTATTTTTAGTTTTTTGAGAAAACTCTGTACTTTTAAAATAATAGCTATACTAATTTACAATTCCACCAGTAGTATGTAAGTGTTCCCTTTTCTCAATATCTTTACTAACACTTGTTTTCTTTTGCCTTCTTGATAATAGCTTTTCTAACTGGAATGAGACAACATCTCGTTGTGGTTTTGATTTGCATTTCTCTGATTAATGATGTACATTTTTTCATACATCTGTTGGTCATTTGTGTGTCTTCAGAAATGCTGGCTAAGGTCTTTTACCAATTTTTGAATCACATTTGGGTTTTTTTTTTAACCATTGAGGTAATTTCCTTTTACATTCTGGATATTAACCCCTAATTAGATGTATTGTTTGCAAATATTTTCTCCCATTCTGTAGGTTAACTCTTCACTCTGTTAATTGTTTCCTTTGCTGTGCAAAAGCTTTCTAGTTTGATATAATCCCATTTGTCTCTTTCTGCTTTTGTTGCTTGTGCATTTGAAGCCCTATTTAAAAAATCCTTGCCCAGCCCAGGTACTGAAGTTCTTCCTGCATATTTTCTTCTAGTAGTTTCATAGTTTGAGGTCTTTAATTTATTTTTATTTTATTTTTGTATATAATGAGAGGTAGGGGTCTAGTCTCATTCTTCTGCATGTGGATATCTAATTTTTCTAGCACCATTTATTGACAATACTGTCTTTCCCCAATGTGTGTTCTTGGGACCTTTGTCAAAAAATCAGTTGGCTGACTTTGGGCTGGAATAAGATGGCAGAATAGAAGGCTCCACCAGTCACCCTCCCCTCTACCAACCCTGCAAGGATACCAATTTAACTATCTGCACACACAAAAACCACCTTTATAAGCACTAAAAATCAGGTAAGCACTCACAATAACTGGTTTTAACTTCTTATTGCTGAAAGAGGCATTGAAGAGGTAGGAAAAACAGTTTTGAATTGCAGACACCATCCCTCCCCTGTCTCCAAGCAGCAGTGGCATGGCATGGAGAGCGTTTTGGTGCACTGGGGAGAGGGAGATTGCAGCATTTGTGAGGCACTGAACCCAGTGCTGCCCTATTATAACAGAAAACAAAATGGCTGACACCCACCCTCAGAAGGATAATTTAAACCAGCCCTAACCAGAGAGGATTCCCAGATGCTGGCGGCAGGAACCTGAGTTCTTGCAAGCCTCACCAAAGCAGGCGGAAGTACTCTGGGGCTCTAAATAATCTTGAAAAGCAGTCCAGGCCACAAGGATTTCAATTCCTATGTGAGTAATGCTGCTGAACTAGGCCCAGAGACAGTGAACTGGAAGGGACACGTGACCTACTGAGGCACCTGCTGGGGCAGCTAAGGGAATGCTGGCATCACCCCTCTCCTAACCTCAGGATACACAGCTCACATCTCCAAAACAGACTCTTTCCTTCTGTTTGAGGAGAGGAGGGTAAAAAGTGGGGAGGATTTTGTCTTGCATCTTGGATACCAGCTCAGCCACAACAGGATAGGGAACCAGTCAAAGTTGTGAGCCCTTTTTCTAGGCCCTAGCTCCCGGGCAACATTCGTAGACACTCACTGCATCAGAAAGCAACCTGCTGCCTTGAAGGGAAGTACCCAATCCTGGCAAGATTCATCACCTGCTAACTGAAGATCCCTTGTGCCCTGCATAACCAGCAGCAATACCCACGTGTACTACATTGAGGGCCTTGGGTGAGGTTCTGAGGCTTACTGGCTTCAGGTGAGACTCAGCACATTCCCAGCTGTGGTGGTTGTGGAGAAAGACTCCTTCCACTTGAGAAAAGCAGAGAGAAATGCAAAGGGGACATTGTCTTGCACATTAGGTAGAAGCTTGGCTACAGAGATAGGACACCAAAGAGGCTCTTGGAGCCCCAATTTCAGGACTTGGCTCTTAGACGGCATTGCTGGACCTGCCCTGGGCCAGAGGTGAGCCCACTGCCCTGAAGGGTGAGTCCCAGGTCAGGCAGCATTCACTACAAGTGGACTGAAGAACCTTTGGGCCTTAAGGGAATATCAGTGGTAGTTTTAGAGGCTCCTTATGAGCCTGTTGTGGCAGTGGCCACGAGTGAGGCTCCTCTGCCTTTGGAAAGGGGAAGGAAGAAAGGAGAAGGACTGAATTTTGTGGTTTGAGTGGCACAATACTCAGCTGCAATACAATAAAATACCAGGTAGAGTTCTAAGATTTTTGCCTCTAGTTCCTAGCTGCCAGACAGTACCTCTGGACACACCCATGGCTTGGGGAAGCTCACCAACCTGAAGGGAAGGACACAGGCCTGGCTGACTTTGCCACCTGCTGATTGTAAAACCCCAGGGCCTTGAGTGATCATAGGCCATAGCCAAGGAGTGGTTACTGCAGGCCTTGGCAAGACCTAGTGCTGTGCTGGCTTCAGATCTGACACAGTACAGTACTAATGGTGGTAGCCACAGGAGTGCTTGTGTCACACCACCCCCAGCTCCAGGTGACTCAGAACAGAGAGAGGGTCCTTTCATTGGGGTGAAAATAAGGGAAGAGAACAAGAGTCCCTGCCTGATAATCCAGAAAATTCTTCCAGATCTAGTCCAAGACCATCAAGGTGGCACCTCTATGAAGATGCAAGAACCACAATATTACTGGGCTTGGAGTACACCCTAAAGCAGGTAGAGCTTAGATCACAACACCCAAGTCCTTTAAAATATCTGGAAAGCCTTTCTAAGAAGGTACAAACAATCCCAGACTGAGAAAACTACAATAAATAACTAACTCTTCAATGCCGAGACACCAAAGAACACCTGCAAGCATTAACACCATCCAGGAAAACATGACCTCACAAAATTAACTAAGGCACCAGGGACCAATCCTGGAGACACAGAAATATGGGACCTTTCAGACAGAGAATGCAAAATAGCTACTTTGAGAAAACTCAAACTCAACACAGAGAAGGAGCTCAGAATTCTATCAGGTAAATTTTAACAAAGAGATTGAAATAATTAAAAAGAATCAGGCAGAAATTCTTGAGTTGAAAAGTGCAACTGGCATACTGAAGAATGCATTCAAGCCTTTTGATAACAGAATTCATCAAGCAGAAGAAAGTGAGCTTGAAGACAGACTATTTGAAAATATAGTCAGAGAAGACAAAAGAAAAAAGAATTAAAAACAAGCACACCTACAGGTTCTAGAAAGTAGACTGAAAAGGGCACATCTAAGAGTTATTGGCCTTAAAGAGGAGGTAGAGAAAGAGATAGAGGTAGAAAGTTTATTCAAAAGGATAATAACGAGAGCTTCTCAAATCTAGAGAAAGATATCAATATTCACATACAAGAAGGTTGTAGAATACCAAGCAGATTTAATTGAAAGAAGAGTACCTCAAGGCACTTACTAATCAGACTCCCAAAGATCAAGGAAAAAGAAAGGATCCTAAAAGCAGTAAGAGAAAAGAAACAAGTAACATACAATGGAGCTCCAATACATCTGGCAGCAGACTTTTCAGTGGAAGCCTTACAGGAGAGAGTGGCATGACATTTAAAGTACTGAATGAAAAAAATATTTTACCCTAGAATAGTATATGTAGTGAAAATATCCTTCAAACATGAAGTAGAAATTTTCTTGATTTTATTTGCAGATAGCTCACTATTAGTGGATAGTAACACTACTGGTTTTTGTATGTTAATTTTGTATCATGAAACTATACTGAATTTGTTTCTTCTCACAGTTTTTGGTGGAGTCTTTAGAGTTTTCTGTATATAAGATCATGTTGTCAGCAAATAGGAACAATTTGGTTTCTTCCTTTCCCATTTGGGTTTTTTTTTTTTTTTTTTTTTTTTTGTCTTGCCTAATTGTTCTGGCTAGAACTTTCATTCCTATGTTGAATAAAAGTAGTGAAAGTGGGCAACTTTGTCTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGCTCACTGCAACCTCCACCTCCCAGGCTCAAGCAATTCTCATGCTTCAGCCTCCGAGTAGCTGGGATGCACCACCATGCCTGTCTAATTTTTGTATTTCTAGTTTGACCATGTTGTCTAGGCTGGTCTCGAACTCCTGAGCTCAAGTGATCTGCCTGCCTAGGCCTCCCAAAGTGGTGGGATTACAGGCGTGAGCCTCCGCGCCCAGCCTTTATCTCGTTCTTGATCTTAACATTCAGTATGATGTTATCTGTGCATTTGTCAAGTGTGGCCTTTAATTGTGTTGAGGTAGATAACTTCTGTTTCAATTTGTTGATAGTTTTTTTGTCAGGAAGAGATGTTGAATTTTGTCAAATGCCTTTTTTGTGTCTGTTGAAATGATCATGTGGCTTTTGTCCTTCTGTTAATGTGTGTCATTTTTATTCATTTGTATATGTTGAACCATCCTTGCATCCCTGGGGTGAATCCCACTTTAGTATACTGAATGATCTTTTTAATGTATTTTTGAATTTGGTTCGCTAGTATCTTTTTGAGAGTTTTCACATCTATGTTTCAGGGATATTGGCCTGTAGTTTGCTTTTTCTTTGCTGTGTTTTTTCTTTGCTGTGTCCTTCTCTGGTTTTGGAATCACAATCATGCTGGCTTTGTAAAATGAGTTTAGAATTGTTTCTTCCTCTTTATTTTTTTGGAATAGTTTGAAGAACATTGGTATTAGTTCTTTAAATGTTTATGGTAGAGTGCAGCAGTGAAGTCATCAGGTCCTGAGCTGTTCTTTGAAGACTTCTATTACACATTCAGTTTCCACACTTGTTATTGGTTTGTTCAATTGTGTGTGTGTGTGTATGTGTGTTTGGAGATAGGGTCTTGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGTGATCTTGACTCACTGCAGCCCCGACTTCCTGGGCTCAGGCAATCCCCATGCCTCAGCCCCCCAAGTAGCTGGGACTACAGTCGTGCACCACCATATTAGGCTAATTTTTGTAGAGATAGGGTTTTTCCATGTTGTCCAGGCTGATCTCAAACTCCTGAGCTCAGGCAGTCTGCCCATTTTGGCCTCCCAAAGTGCTGGGTTTACAGGCATGAGTGACCATGCCTGACCCCATTTTTTAATTGATAATTTATCTTGGTAGATTGTATGTGTCTAGGAATTTATCCACTTTTTTCTGCTATCAGTGTGTTGGCATATAGTTGCTCATAAAAGTCTCTTATGATACTTTGTATTTCTGTGATATCAGTAGTAATGTCCTCTTTTTTGACTCTGATTTTGAGTCTTCTTTTTTTCTTAGTCTAACTAAAAATGCTTGTTGATTTTCATTGACCCACTGGTTATTAGGGGCATGTTGTTTTGTTTCCATGTATTTTTACAATTTCCCAAATTTTTCTTATTGATTTCTAGTTTTATATGATTGTGGCCATACAAGTTACTTGATATGATCTCTCTCTTCCTAAATCTCTTAAAACTTATTTTGTGGCCTAACATATCCTTGAGAATGTTGCATGTGCAGTTGAGAAGAATGTGTATTCTGTAGCTGTTGGATGGAATGTTCTATAAATGTCTGTTAGGTCCACTTGGTCTATGGTGCAATCTTAGTCCAATGGTTTTTTATTTTTTGTCTAGATGATCTGTCCATTGTTGAAAGTGGGGTCTTGGAATCCCCTACTATTACTATATTTCAGTGTCTGTTTCCTTGTAGATCTAATAATATGTGCTTTTTATATTTTGGTGCTTTTCTGTTGGGTGCATCTATATTTACAGTTGCTACATCCTCTTTTTGAAGTTACTCCTTTAGCGTTAATATAATGAGCTCCATAGTCTTTTAAAATTATTTGTGACTAAAAATCTGTTCTATTTTATATAATATGTTTATTCCTGTTCACTTTTGGTTTTTATTTATAAGGAATATCTTTTTCCATCTCTTTTCAGTCCATTTGTCTTTAATGAGTAGGCAACATATAGTAGGGTCTTGTTTATCGATTCAGCCACACTATATCTTTTAATTGGAGAATGATATGGTTTGACCATGTCCCCACACAAATCTCATCTTGAATTGTAATCCCCATAATCGCCGTGTGTCATGGGAGGGACCCAGTGAGAGGTGATTGAATCATGGGGGGTGGTTTTCTCATGCTGTTCTCATGATAGCGAGTGAGTTCTCATGAGATCTGATGATTTTATAAGCTACTGGCATTTCCCCTGCTGGCACTTATTCTCTCCCTTTCCTTTATAAATTACCCAGTCTGAGGTGTTTTCTCATAGCAATGTGAGAACAGACTAATACAGTAAATTGGTACCAGGAGTGGGGCATTGCTATAAGATACCCAAGAACGTGGAAAGCAACTTTGAAACTGGGTAATGGGCAGAGGTTGGAACAGTTTGGAGGACTCAGAAGACAGGAAGGTGTGGGAAAGTTTGGACCTTCTTACAGACTTGTTGAACGGCTTTGACCAAAATGCTGATAGTGATATGGGCAATGAAGTCCAGGCTGAGGTGGTCTCAGATGGAGATGAAAAACTTGTTGGGAACTGAAGTAAAGGTCACTCTGGCTATGCTTTAGTAGAGAGCTTTTTGACCCTGCCCTAGAGAACTGTGGAACTTTGAACTTGAGAGAGATGATTTAGGGTATCTGGCAGGAGAAATTTCTAAACAGCAAAGCATTCAAGAGGAAGCAGAGCATAAAAGTTTGGAACATTTGCAGTCTGACGATGCAGTAGAAAACAAAAACCCATTTTCTGGGAGAAATTCAAACCAGCTATAGAAATTTGTATAATGAAGAGCCAAACACTAATTGCCAAGACAATGGGGAAAATATCTCGAGGGCATGTCAGAGAGACCTTCATGGCAGCCCCTCCCTTCACAGGCCAGGGGCCTAGGAGAGAAAAATGGTTTCTTGGGCCAGGTCTAAGGCCCCCTTGCTGTGTGCAGCCTTGGGACTTGGTGCCCTGCATTCCACCTGCTCTAGCCATGGCAAAAAGGGGTCAAGGTACAGCTCAGACTGTTGCTTCAGAGGGTGCAAGCCTCAAGCCTTGGCAACTTCCACATGGTGTTGGGCCTGTGGGTGCACAGAAAACAAGAATTGAGGTTTGGAGACCTCTGCCTAGATTTCAGAGGGTGTATGGTAATAGATGGATGTCCAAGAAGAAGTCTGCTGTAGGGTTGGAGCCCTCTTGGAGAACCTCTGCTAGGGCAGTGCAGAAGGGAAATATGGGGTCATAGCCCCCACACAGAGTCCCTACTGGGGCACTGCCTAGTGGAGCTGTGAAAAGAAGGCCACCATCCTCCAGACCCCAGAATGGTAGATCCACCAACAGCTTGCACCGTGCTTCTGGAAAAGCCACAGACACACAAAACCAGCTGTGAAAGCAGCCAGGAGAGGGGAGCTGTACCCTGCAAAGCCACAGAGGCAGAGCTGCCCAGGGCCATGGGAGCCTGTCTCTTGCATCAGCATGGCTTAGATTTGAGACATGGAGTCAAAGGAGATTGTTTTGGAACTTTAATGACTGCCCTATTGCATTTTGGACTTGCATGGGGCCTATAGCCCCTTTGTTTTGGCCAATTTCTCCCATTTACAATGGGTGTAGTAGCCAGTGTCTGTACCCCCATTGTATCTAGGAAGTAACTAACTTGCTTTTGGTTTTAAATGCTCATAGGTGGAAGGGACTTGCCTTGTCTCACATGAGACTTTGGTCTTGGACTTTTGGGTAGTGCTGGAATAAGACTTTGGGGGACTGTTGAGAAGGCATGATTGTGTTTTGAAATGTGAGGACATGAGATTTTGGAGGGGCCGGGGACAGAATGATATGGTTTGGCAGTGTCTTTACACAAATCTCATCTTGATTTGTAATCCCCATAATCCCCACCTGTTATTTGAGGGACCCAGTTGGAGGCAATTGAATAATGGGGGCAGTTTTCCCCATGCTGTTCTGATGATAGTGAGTGAGTTCTCATATGATCTGATGGTTTTATAAGCGTCTGGCATTTCCCCTGCTGGCACTCATTCTCTCTCCTGCTGTCCTGTGAAGAGGTGCCTTCGGCCATGATTGTAAATTTCCTGAGGCCTCCCCAGCCAGGCAGAGATGTGAGTCAATTAAAACTCTTCTCTTTGTAAATTACCCAGTCTCAGGTAATTCCTTATAGCAATGTGAGAACAGACTAATACAGAGAATTTAACCCATTAATATTTAAGGTTATTAATAGGTAAAGACTTCAGCCATTTTGCTAAATGTTTTCTGGTTGTTTTTTAGATCTTTGGTCCTTTCTTCTTGTTTAAATCTGGTTTGGTTGTTTCAACAGTGTTGCTAAGCCTTGTTTACTTTTTTTTTCTTACTTGTGTATTTGTTGTAATTTCTTTCTTTGTTTTCACCATAGGGCTAACATAAAGAATCCTGTAGTTGTAACAGAGTATTTTAAGCTGATAATGTAACTTTGGTTGCATAACACTGCTACACTCCTTTCTCTCTCCCATTTATATTTGTGTTATCTTGATTTACATCTTTGTGTATGATGGGTTCCTTAGCCACTATTTGTAGCTGCTGTTTTTTCACCATTTTGACTTTAAATCTTCATACTAAAGGATTGAAAGATTTACATAGCACTATTAGAGCAATTCCGTATTCTTTGTTATAAATTAACATCTACTGGTGGGTTTTATACTTTCATGTGCTTTTATCATTTTTTGTAAGGCCACTCTAGTAGTGACGAATTACCTCAGCTTTTAATTATCTGGTAAGGTCTTTATTTCTCCTTCATTTCTGGAGGATAGCTTTTGCTGGATGTTACATTGTTGACTGATTTTTTTCTCAGTACTTTCTCTTCCTATTCTCTCCTGACCTGCAAGGTTTCTGCTGTGAAATCTGACTGTCTAGTGGGGATTCCCTTATATGTGACTTCACATTTTTCTCTTGCAGCTTTTAGAATTATTCGTCCTTGACTTTTGACAGTTGGATTGAAATGTAGAACTTTTGGGGTTGAATATAATCGGGGCCTTTTGAGCTTCTTGCATCTGGATGTTCATATCTCTCCCAAGACTTGGGAAGTTTTCAGCTATTATTATGTGAAATAGATTTTCTGTGACCTTCTCTGTCTCTTCTCCCTCTTGCACTCATGTAGTGCAAATATTTTTTTCACTTAATGGTGTACCATAAGACCCATAGGCTTTCTTCATTCTTTTGCTCCTCTTATTTTTTCCCCCTTGGACTGGGTTATTTCAAAAGACTTTTCTTCAAGTTCAGAGACTCTTTTTTTCTGCTTGTTCTGGTCTGTTTTTGAAGCACTCAATTGTATTTTTTAGTTTATTTTCAATAAAGTAACATCATATAAGAGAGATTAGACTATCGTACATAATATTTACTAAAATTTAATATTCTTATTAAATAAGCACTTTTTAATCTTTTGATTATAATTATAGATATTGGTGGAAAACTAACCATTTAGTTATATAATTCTGTTTTTAAATGTCTAAACTAAAAATGAAACTAATCTTTTACATTCTTATACATTTATTTCTAGTATGAATATGCAAAATACAAATAATTTTTTCTTCTCCATATCTTGGTGGAAGAGTTACTTTGATAGAATTTGAAGTTACTTTTTACATTTACATAGGGTGAATATTGCTTCTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCTGCTCATTATATCCTCCACCTCCCAGGTTCAAGCAATTCTCATGCTTCAGCCTCCCAATTAGCTGGGATTACAGGCATGTGCCATCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGCTGGTCTCGAACTCCTGGCCTCATGTGATTCCTCCAGCCTTGGCCTCCCAAAGCAATGGGATTACAGGTGTGAGCTACCATGCCAGGCTGAAGGCTGCTTTTTACATTTTCTTCCAAAGATGTGCACATGCAGTCCAAAAAGTTAATTTAACATCATTAATACTGAGCATAAACAGGGATAAAAAATTTATGATCCAAATATTTATAATTGTTATTAATATTAAGAATTGTACATCTCTATCCCCATTTTACCCTACTCTCTCCCAAATCCCTTCCTTTCACACAGGCAACAGAGTATATTTATGAGCCTTATTTGTTAATGTCATGCTAGAAGTCACTTTGCTCTTTCATTTTCTTGTGATAATTTATCATATATATTTTAAGTTCTCTGCTTTAAGTTCTAACATTGTGGGACTGGCTGCCTTACTTTGCTCTGATTAAGAAAAGAGCCCTTACCATTTTTTTAAAGAGAAATCAATACACTTACTCAAAATGAGCTAATTAGGGTAAGCCTTTGGGATACTGCAAATGGAGAGTAGATTTTCAGGCCACTGTGATGGCTAGGACTGCTTAGATACTTCAGGTTTTTAATTTCAGGAGGTTAAAATCAAATATAGTTTAGAGATTGCTTATAATGCTTAAATTTGGATCTCATTGAAATGAAAATAATCAGTGGTGTCTGGCTCAAGAGAGTAACCTCTAATTCCAAGGCAATTCCAAAATATTATTTAAAAGTGTTTCTTTGTGCAATAAACATTTCTGAGGATTTTTACATCTGAAAATATCTTTATTTCATCTTCACATTTCTCTAGTAGACTGATAGTGTAGCTGCAGATCAATTTTTAGCTTTCCAATTCTTTTTCTACAACTCTTAGAAAATATTACTCATTGGTCTTTTATTGAAAAAATTAATCTGATTCTTATTTCTTTGAAAGTGACTATTTCTTTCCTTCAGAGTATTCTTTGTCTCTGATATTAAGTTCCACGATAATATGTTTAAGTGTATGTTTTTTTGTTTGCATCTATTCTGTTTGATGCTCTAAAGCCAACCTTTCCACCTATTCCTGGTAACTCAAACCAGCTGGATTGCATGCTATGGTATATTAGGTTCGCTGCTGCCTATGGCTAGTTGTTGATATTGCTCTTTTTTAGCTCTGAAATAGTGACACAGTGGATAATGATGCAATCAAGACAATGTGAAAAGAAAAGTTTGCAGCCAAAATCTCTCCCTAGTCTGGTTTGCCCCAGCCATGGCAGTTACCATGTTCTCTCCTCCTGCTTAAAGTGCCCCAACACTTTCTTTCTGCCAGATGTTTCCCATTCCTGTTGTGCCATCTTCTGTGTTCAGTATCCTTTTATTTTGTCAAACACAAGATTTGGAAGTGGGAGATAGTTTTTCATTTTGAGTATAAACCAGGGTAACTTTTAAAACTCCATTTTAATTCTTGTTTGTAAAATACAGTTTTCCAAAATTTTTATATTACATTCATAATAGCCAAATTTATCAAATATTTTCCTCTTCATTCTGCTGTAGTTTTACCCCTCCCATTTTCTTCCCAAAGCCATTACCATGACTGAGGCTTCTATTCTTTATGGACTAAGGCAGAAAACTCCAAATTTTGACTCTTACTTCCTTTCAAATCATCCTTTATTAATATAACATTTATTTTTCTAAGGAAAACCTTTTTTCCCCTCCATAACTTGGTTCTGTAGCCAACCTTACGTCTAAGCTTCTTCTATAGCAAAGCAGATCTTATTGTTGCATGAACAAACCATGACAGATTCTGTGAGGACTTTCTAAATGCTCTTTCCTTCTCCTGGAATCTCCTAGCTATGCTTAACCAATAAAAATCAGATAATGCTCCAGCATGCTCCAGAAGCCCTCTCAGTTGTTACTTATTTCCCCTTCTGTGTTTCTAGTACCAATATATTACTTAAATAATAATTTCCATAAAAGTTATGTTTTAAACTAGGCAAGTTCAGATATGGCACTTGAATAAACAGGAATTATTTGGGGAGAATTTTAAAGTGTATACATATAAATGATTCAAATGAAAGAACTTAAGACCAAATTTTAGTTTTACAGTTTATCATTTTTATCAGGTTATAGTTAATTACTAGCTAAACTTAATAGAATAATTACACTTTAAAAAAATAAGTCAATTTTTGTTGAAAAGTAAAGAGCAGCGAGTCATCCAGGTTCTCATCTTTTCCCATTAAGTATTTACAGGAATTTAGCTGACTGTAAACTTCTGTAACTGACTGTAAACAGTCGAGATAACTCACTACCTTTGTACTGGTCTGAATCACTTCTGAAGTTTTTCTTAGGTTTCTCATGTGTAAAAGAACGTAATAACCACTTCCCTCTCCAGTCATTTGTTTTCTCATTTGTTTATTTATTTATTAAATATCTATTGAGGAACTAATATGCAATAGGTACTATATTAGATGCTAGTGATTTACACTAGAAATTATGCTAAAGATTATACCAATACACACACAAAAAAAGAGTACAGGTATTACAGTCTTCTTTGGGAGCCCAGATGAGGGAATGATTAATTCTGCTGATAGGAAAGTCAGGGAAGACTTTTTTTTGGAGGTTACGTGATGAGGAATTTTTTTTGTTTTTTTGAGATGGGGTCTCCCTCTGTCACCCAGGGTGGAGTACAGTGGTGCGATCTCAGCTCACTGGAACCTCTGCCTCTCAGGCTCAAGCAATCTTTCCAACCTCAGCCTCTCTAGTAGCTGGGACCACAGGTGCACGGCACCAGCCTGGCTAATCTTTTGTATTTTTGGTAGAGATGGGGTTTCGCCTTGTTACTCAGTCTGGTCTCAAACTCCTGAGCTCAGGCGATCCACCTGCCTCAGCCTCCCAAAATGCTGGGATTCCAGACCTGAGCCAACATGCCTGGCCGAGGAATTCTTTAGACAAAAAAAGGTGGAATGGTATACCAGGGAAAAGGAAATACCTGCCATGTTTGTTATTCTAACCTAACTGTTGCCGATAGAACTAGGTTGGAAAGGGGTTAATATCATGCTGGAGTGCTTATGCTTTATCCTTTAGACAAGGAGGATTTAACAGAACTTACAAGAAGGGAGCATGGAGGTGATATAAAAGGTTTGTGTTTTATAAAGGCAAAATTGATGAAGATGTAAATAGTAGATTAGATTAAGAAGATTGAGACCTGAAAACCAATTAAGAAGTTATAATGTTCTAAGAGCAAGGTGGGTGGGGACTTTAGTATTGTGGCAGTGTGAATATAAAGTAAGAAGAGTCAAAACATGTTTCAAAAGTAGAATCAGCCTTCACAGAGATCCTATATGAATCTAATAACAAATAGATGTGATCACAGTTTTTGAAACATGTGGACTTTTCATAGATTAAACATTATCATCATTCTTATTTTAAAGATTTGTGCATTTATAAAAGCCTGGCATAACAAGCACTAGTAGTGTTTGTGACATTGCCATATTCAATATCTTTTATTTATTTTATTTTATTTTATTTATTTATGTATTTGAGATGGAGTCTCGCTTTGTCACTCAGGCTGGAGTACAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCGCGTTCAAGCAATTCTCTGCCTCAACCTCCCGCGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGTGTTTCATCATCTTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCCACCAGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCATGCCCAATCTTTTATTAATTTAGACGCTAATGCTTGAAGATTAAGACTGTGTCTTCAAATTTTTAGTGATGTTAGTGACTATATTTTTTGGTAAAATATATATTTAAGTATATAACTTTTAACATTACTTTGTGTTAATGGTTAACTCATTATTGTGTAAACTGTTCAAATACACATTTTAACATCTTATTTTTGTGTAATTTTTCCTGGTATTCTGAAAAATTCAGTACGTTTGAAAACAATAATTTGAAAAGCAAAATACTGAAAAGTATAACACCCAAAGAATCTAATCTTCTTTAGTATTCTACATGTATGCCTCTGAAAGGTCAGTTCTTGTTTTAAAATTTTTATTACGTACCAGCTACCACCCAGCAATTTTTAATACCTGTTGATGGTGATAACTATTGAGAATTACTGACATTCTAACCAATTTACATCTACTTTATATATCTTCAGAACTCCCATTAATTCTCATTTAAATTACCTATATGATAAGAGGTGCATATAAAAGAATCTCTTTTGGTCTGGTAGAATCTGTTGAGAGAAAAATAGGTGATAGACTTTTTTTCTGAACAAGAGTTGAACCAGTAACTATATTTTTGTCCAGAATGTTCCCTAGATTTATGTATCTGCCAAATTAAACTTGTAGACTTGGAATAGCTTAATTTCTAAAGAATATGCTAAAGTTAAATAAAATTAAGAAAGTAACAAAAATAGTACTTTCTTAGGTTGCTGAACTAAAAATATCTTTAAAATTGATAATTTCTTCCTCTCAGAGTCTTGTCCAATTTTATTTCCTATTAATCAAGGTGAGTCATAAATGATTGCTTATACTGTTTTTCAAAACTTTGTGGTACGATACTTATTTGTAATACATACCTTGGTTGGATGAAAGCATTTCTCAGTTGTGCTTAGAGCTTTCTTTTTGCTAACACTTCTGAAACTCCACAAACTAATTCACAGTTCTGTATGTCCCAGGTGAAAGATTTCCCTTTGAATTTAGTTCTTAGTAAAACTTTATCTATGCCTCTCCTCCTAAACTGATATGTTTCATTCCTTTTGATAATAAAAATTATGTCATTTACTTACAGCGTTTCAGTCAGCAAAGTAGAACAAATACTAGGTATTTCAATGGATAATTTAATATAGAGAATTGGTAACACATGTTGGAGAGCTCAAAGAGCAAAAAGGGAACAGTGGAATAACTGAGATATTTGCAGGAAGCAGCTACCTCCCCTAGAGCTAGAGGAACACAGGGAATCAAAGAGTCTGAGCTAATCTGAATGTAGAATTGGAGAAAGACCCCTCGGAGCCAGACTTAGACCTCTGAGGAAGGAGTGCTGCTCTTCAGAAGTACTGATGTGTTTGAGGGGGGGATTCTTTGGCTGAGGCTGAGGGTGCCAAATTAAGCTGGATACTGGAGCCAACTGCTGTTGTTGGAAGGATACTGAAAAGAATCTCAAATGAACAGGAAGAAGGAAGTTCCTTTTCCTCTATTCCTGCTTCACGTTCTTGTATAGAAATTCCACTGGCAGAACCTAATAGGACATCATCTGTAAAGAAGAACTTCAGTTTGCAGAGTTAGCCCCAGCTTCACAAACATACATGCTGAGAGATAATACCTCCTACATAATAGAATATGCCTTTTCATTTGCACGTCCTTTATTGGTTTTTTTCTCTAATGTTTTGCTTCTTGATTTGGGTGGTTAGTTTGGTAATTCTTTCTCCTTTTAAATCTTTATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTATTGTCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCTGCCTCCCGCGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGACCACAGGTACCCACCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAACCACCATGCCCGGCCTCTCCTTTTAAAAATCTTAATAAAAGCACTGAAGGCTATATTACTGAGCACCATTTTAACTATAACCCACAGCTTGATAGGCATGTTTTCATTATTGTTCACTTTTAAATATTTTCTAAATTTCATTGTAACTTCATCTTCTATGCTCCATTTTTTTACTCATTCTTTACTGTCTTGATTACCTTTTAGGTATAGATGTCTATTATGTATGACTACATTATGACTAGAGAATATGGTCTTATGACAGTAATCTTTTGAAATTTGTTGGGATTTGCTTTATGGCCCACTATGCAATAACATTTTGTTATGTTTGAAAAGAATGAATATTCTGCTATTGTTGACTGCTGTCCTCCCATTTTATCCTTTAGTGTAAAATGTTTTAATTCAAAGCTTATACTACTACACATACACAAAATGGTATTTTGTTCATTTGTTTTATTTATACAGGTTCAGAATGTTATCTCTTCTTGATATATTGAACATTTGTCATCGTAAAGTGATTCCCTTTAGCGCTTATGTTTTTCCTATTTTTCTGATATTAATATGTCAGTTTTCTTTTGGTTATTTTTTGCTAGATATATCCTAATTTATACTTTTAACGTTAACTTTCTCGAGTTTTTCTATGGGTGCCTCTTATAAAGAGCCTATAGCTGGATTATGCCTGATCTATAACTGGAATATTTAGTCTGTTTACATTAATTTGGATTAATTATACATTTTATATTTTTTATACTTTTTTTTACTCATCTTCCTTTGGACTGATTATTTTCTAATGTTTCTTTTTCCTAGTTTACAACTTATATGCATTTTTTACTTTTTAGTTGGTATTCTGTATGTTTTTTGTACATACATAGCTTATCAAAGTTAAACTCAGTATATTTGCATAACTCCCAGACAGTTCAAGAAGCTTAGTATATTGTACTCAATTCCAACTTTATATGCAGTTATGATTTTATATTTTAGTCTGTCTTTCTTGTTGTTGTAGTCATGTACATAATGCTTATTTGGATTTGCCCCATGTTTATCACTTGTATTGTTCTTTATTTCTTCCTGTATCTCAGACATTCTGTTTGGTTTCACTTTGCATCTGCTTATAGTGTAGAAAGTATCTTTTGGTTGTGAACTCTTGAGTTTTTATCTGAAAATGCCTTTAATTTGCCCTCTGTCTTAAAGGGTATGTTATTCTGTATTAACATCTAATGTCTCATTATACTGAAGGTAGATTTGAGATAGAATTCTGTCTTTTCTGGTTTCTGTTGTTGAGAAGTCAATTTTTGCTTCTTTGATCTATCTTTTCTTGCTGCTTTTAAGATCTCTTTACCTTGATTTTCTGCAGTTATACTGTTGAGATTGGGTATGGAATTGTGTTCTTTTTCTCTTTAATTCATTTTTTTAAAAAATTGGGTAAGATTTAATGGGCTTTTTGAATTTTCATTAGTGGTGTTGATCAGTACTATCAACATCTGAGTTACTCTTTAAATTTTGACTACTTCACTATCTCTCTTTTCTGGAACTCTGATATTGGATGTATGTTAGACCTTTCTCTCTCTGTTCATCATGTGTCTTATTTCTCATAATTTCCATCTTTTTTTCTACATGATGCATTCTGAATAAATTCTACAGAACTGTCTTCTGGTTCACTGTTTTTTTTCAGCTGAATCTGATCTGTCAGCATGTTACATTCTCAGTGTTTCTGTGTAAAAAACCCTAGTCTTATGACTCTTCATCTACCATAGAATTAAATTTGTAGCCATTGCCTAGTTTATTGGTCTGATCAGAAAGGATAATAAAACTTATATTAGCTTCCAGAAAAGGGCCAAAGGGCCTAAAATCCTATATTAAATCCAGAGTCCTGGAGGGACTATAGCATTATCTCCTTAAATATTTACATATCAAAAGGAATAAAGCTCTAAAACTTGGAATCATCTCTAGGTCATCTGGCTCCTGGAGAGATTTTATTTACGTACCACAGTGTTCTTTAAAATTCAGTCACATTACATTTCCTAGACATCCCCTTTCAAAGGAAAGAGGACAGCTGCCTTCTTCCTCTTTATAAGCAGAGAAAAACCATTTTTCTCTACCCCTTGTACCTAGCCAATGGAAGATCTGTCTACTTGAATAGGATAATTGATCTGGTTTTCATGTGGCTGCCCCAGAAATAAGGCCTGGGGCAAGAAGGTAGGGGCAACACACTTAGTTACTATGAGAGAATTAATAAGCAATCTGATCTAGAATACCTCTGTTCACATTCAACATGAGGTAAATAAAGATGAAGATTAAAAAGTCAACACTTAGCTTTCTGAATAATCATGCCTTACTTCTGAACTCGTAGTTACATTTGTTGCATTTAAGAATATGCTTTAATATGTTATTCAACATTTTTGGTTGTTTTCAGCAGCAGCTAGCCCTACTTGAAATAGAAGCTGAAATAATCTTTTTATTTTGAGCAACTGTGAAATAAGTTATATATGTGTATTAAATGATTATGCTTTGTTTGTAGACTTCCTTTTTTTGTTCACTGGTGATGTTATGTGGTATTGGAATTATTTTTTGTTTTCTCATTGAGTCTCTACAGTAGCTGTTGAAATGCTAACTCTTCCTTTTAGCCATAAAGTTATTGAACCAATTAGCTTACTCTTTGAGAGCAGTTGGGCTCTCCTCATACTTTAAAACACACCACACACACACACACACAAAAGTATTTTGGGCTATCTTATTGGCTTTCTTTTTTTTATTATTATTATACTTTAAGTTTTAGAGTACATGTGCACAGCGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCATCATGTAACGTTAGATATATCTCCTAATGCTATCCCTCCACACTCCCCCCACCCCACAACAGGCCCCAGTGTGTGATGTTCCCCTTCCTGTGTACATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGTTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTTGTGGCTGCATAGTATTCCATGGTGTGTATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCAGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCGTACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGCTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGACATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGTATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTTTTGGCTGCATAGATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCTACTTGTTGATGGGGTTCTTTGTTTTTCTCTTGCAAATTTGTTTGAGTTCATTGTAGATTCTAGATATTAGCCCTTTGTCAGATGAGTAGATTGCAAAAATTTTCTCCTATTCTGTCAGTTGCCTGTTCTCTCTGATGGTAATTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCTCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGCAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTGAGGTCAAACATTTAAGTCTTTAATCCATCTTGAATTAATTTTTATATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTATATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAAATAGGGAATCCTTTCCCCATTTCTTGTTTTTGTCACGTTTGTCAAAGATCAGATAGTTGTAGATATGTGGCATTATTTCTGAGAGTTCTGTTCTGTTCCATTGGTCTATATCTCTGTTTTGGTATCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTTTTTGGCTTGGGATTGACTTGGCAATGCAGGCTCTTTTTTGGTTCCATATGAACTTTAAAGTAGTTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGATGTATGGCCATTTTCACGATAATGATTCTTCCTACCCATGAGCATGGAATGTTCTTCGATTTGTTTGTATCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAAGAATGCCTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTCTGGGCTGAGACAATGAGGTTTTCTAGATATACAATCATGTCATCTGCAAAGAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATATCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACATTATGTTGAATAGGAATGGTGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTCTCATAGATAGCTCTTATTTTGAGATATGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGTTGTTGAATTTTGTCAAAGGCCTTTTCTGTATCTATTGAGGTGATAATAAGGTGGTTTTTGTCATTGGTTCTGTTTATATGCTGGATTACATTTATTGATTTGCGTATGTTGTACCAGCCTTGCATCCCAGGGTTGAAGCCCACTTCATCATGGTGGATAAGATTTTTGATGTGCTGCTGGATTTGGTTTGCCAGTATTTTATTGAGGATTTTTGCATTGATGTTCATCAGGGATATTGTCTAAAATTCCCTTTTTTTGTTGTGTCTCTGCCAGGCTTTGTTATGAGGATGATGCTGGCCTCTTAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCATCTGGTCCTGGACTTTTTTTGGTTGGCAAGCTATGAACTATTGCCTCAATTTCAGATGCTGTTATTGATCTATTCAGAGATTCAACTTCTCCTGGTTTAGTCTTGGGAGGGTGTATGTGTCGAGGAATTTATCCATTTCTTCTACATTTTCTAGTTTATTTGTGTAGAGGTGTTTATAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATACCCCCTTTAACATTTTTTATTGCATCTATTTGATTCTGCTCTCTTTTCTTATTAGTGTTGCTAGCAGTCTATCAATTTTGTTGATCTTTTCAAAAAACCACCTCCTGGATTCATTGATTTCTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCATTTCTGCTCTGATCTTAGTTATTTCTTGCTTTCAGCTAGCTGTTGAATGTGTTTGCTCTTGCTTCTCTAGTTTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTACACACTGCTTTGAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCGTTAGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAATTGAGTGGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTTGTTATAATTTCTGTTCTTTTATATTCGCTGAGGAGTGCTTTACCTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAGAAGAATGTATATTCTGTTGATTTTGGGTGGAGAGTTCTGTAGATGTCTATTAGGTCCACTTGGTGCAGAGCTGAGTTCAATTCCTGGATATCCTTGCGAAATTTCTGTCTTGTGGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCCCATTATTATTGTGTGGGAGTCTAAGTCTCTTTGTAGGTCTCTAAGGACTTCCTTTATGAATCTGGGTGCTGCTGTATTGGGTGCATATATATTTAGGATAGTTAGCTCTTCTTGTTGTATGGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGCTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGATAGATTTTCCTCCATCCCTTTATTTTGAGTCTATATGTGTCTCTGCACATGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTACCAGTCTGTGTCTTTTAATTGGAGCATTTAGCCCATTTACATTTAAGGTTAGTATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTCGTTAGTTGATGCAGCTTCTTCCTAGCCTTGATGGGCTTTACAATTTGGCATGTTTTTGCAGTGGCTGGTACCAGTTGTTCCTTTCCATGTTGAGTGCTTCCTTCAGGAGCTCTTGTAGGGCAGGCCCGGTGGTGACAAAATCTCTCAGCACTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTAGGAAGTTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCAAGAGATCAGCTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTACCATTTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTTTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGGCATTCTCTGTATTTCCTGAATCTGAATGTTGGCCTGTCTTGCTAGATTGGGGAAATTCTCCCTGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCATTCTTCCCATCAGTTTCAGGTACGCCAATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTACTCTTTTTTCTCTAAACTTCTCTTCTCGCTTCATTTCATTCTTTTGATCTTCAATCACTGATATCCTTTCTTCCAGTTGATTGAATTGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTTATGCCCTGGTTTTCAGCTCCATGAGGTCATTTAAGGACTTCTCTACACTGGTTATTTTAGTTAGCCATTCATCTAATCTTTTTTCAAGGTTTTTAGCTTCTTTGCGATGGGTTCAGACTTCCTCCTTTAGCTCGGAGAAGTTTGATTGTTTGAAGCCTACTTCTCTCAACTCGTCAAAGTCATTCTCTGTCCAGCTTTGTTCTGTTGCTGGTAAGGAGCTGTGTTCCTTTGGAAGGGAAGAGGCGCTCTGATTTTTAGAATTTTCAGCTTTTCTGCTCTGTTTTTTCCCCATCTTTGTGATTTTATCTACCTTTGGTCTTTGATGATGGTGATGTACAGATGGGGTTTTGGTGTGGATGTCCCTTCTGTTTGTTAGTTTTCCTTCTAACAGTAAAGACCCTCAGCTGCAGGTCTGTTAGAGTTTGCTGGAGGTCCGCTCCAGACCCTGTTTGCCTGGGTATCAGCAGCAGAGGCTTTAGAACAGCCAATATTGCTGAACAGCAAATGTTGCTGCCTGATCCTTCCTCTGGAAGCTTTGTCTCAGAGGGGTACCCAGCCGTGTGAGGTGTCATTGTGCCCCTACTGGGGGGTGCCTCCCAGTTAGGCTACTCGGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGTCTGTTCTCAGATCTCAAACTCCGTGCTGGGAGAACCACTACTCTCTTCAAAGCTGTCAGACAGGGACATTTAAGTCCGCAGAGGACATTTCTGCTGCCTTTTGTTTGGCTATGCCCTGCCCGCAGAGGTGGAGTCTACAGAGGCAGGCAGCCCTCCTTGAGCTGCGGTGGACTCCACCCAGTTCGAGCTTCCCGGCCACTTTGTTTACCTACTCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCCTGCTGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATGAGCTAGGCTCCATGGGCATAGGACCCTCCAAGCCAGGTGCAGGATACAATCTCCTGGTGTGCCGTTTGCTAAGACCGTTGGAAAAGCACAGTATTAGGTTGGGAGTGACCTGACTTTCCAGGTGCCATCTGTCACCCCTTTCCTTGGCTAGGAAAGGGAATTCCCTGACCCCTTGCGCTTACTGGGTGAGGTGATGCCTCGCCCTGCTTCGGCTCACACTTGGTGCGCTGCACCCACTGTCCGACAATCCGCAGTGAGATGAACCCGGTACCTCAGCTGGAAATGCAGAAATCTTTCGTCTTCTGCGTCGCTCACGCTGGGAGCTTTAGACTGGAGCTGTTCCTATTCGGCCATCTTGGCTCCACCCCTATCTTATTGGCTTTCTAAGAATCAGTCATGCACATAAACCACACCAAAAGGCATTTCATGGAAAAATATACATCATTTGATTTTTAGGGGGTATGGAGGCAAAGATAAACTTTTCAGTGTAAGTCAATTTTGGAAAAAAAAAAAGTCTTCCTGTTGGTTTCCTTTAAGCAAGTACAAAAATCTCAAATGTATGATATTGTATGTTATTCTTCATAACCCACCCTTCTCTCACACTCTTATATTCCTGAAACTATTTTTTTTTTTTTTGAAATGGAGTTTCGCTCTTGTCACCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCATGCCCAGCTAATTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAGGTGATCCACACACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATGGCACCCAGCCAGAACTTAAAATGTAACAAAATAACTTTGTACTGAAAGGCATATGCCTGACACATAGTCAGTACTCCATGAAAATTAGCTATTCTTCCTCTTAAATATCATGGTCTGTGTTAGGCCTCTTAATGTGAGATTGTATTGTTACTCTATTATTCTACTAGTTTGCCTGTTTACTTGATAGCTTCACAGAGCAGAATCATTCCTCAGGCCAAATTATGGAGCAGATATCATATTAAAGATACTTTCCTAGAAATAAAAATTTTTATTAATGTGCCATCTTTTCTATTAATAGCCTACTTCAAAAATTATTTGCTTTAAAATTATTTACTCATTTCATATGCCTTGAAAGTTTCATAGTTTTTATTAAAATGGCAAAATCACAATTACTTTTGCACCAACTTTATTTCAAACAAAAGCCCCTTTGTATTAGTGTTCTGTAGGTTTCTCCTGATTTTTCTTTTAGAAATATGTAATAGCATTAGCTTCCATGCCTCAGATCTTTCAGAATACTCCTGTATTAGTCCATTTCACGCACTGATAATGACACACCGGGACTGGGCAATTTATAAAAGAAAGAGGTTTAATGAACTTATAGTTCCATATGGCTGGGGAGGCCTCACAGTCATGGCGGAAGGCGAGGAGGAGTTAAGTCACTTCTTATGTGGATGCGGGCAGGCAAAGAGAGAGAGCTTGTGCTGGAGAACTCCTCTTTATAAGACTATCAGATTTCATGAGACTTATTCACTATCACGAGTACAGCATGGGAAAGACCTACCCCTATTATTCAATTACCTCCCACTGGGTCCCTCCCACAACATATGGGAATTCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCAACTCCCCTTCTCTTTTAGCCTTGGCTTTACTTGATCTACTAGTTTCCTGTGTTTTTGCCCTTTATTTCAGCTCTTCAACACTTCTGATTTAAACAATTTATTGGGTATTTATTACTTACTTTCCCTGGTTGAATTCTGCTTGCTCAATTAAATAACATATCTTTAATTGCAATTAAAACATGACTGTTTGGGTTTTATTTGATCCACTTGACAATTTGCTATGAAAAGGAATACGGATCTCCGAATCTGTAGGTTCCACATCTGCAAATTCAACCAACCATAGATTGAAAATATCCTGAAATAAAAAACACAATACAGTATAACAACTACTTACGTAATGCTTACTTACATTGTATTAGGTGTTATAAGTAACCTAGAGATTATTTAAAGTATACAGAATTATGTGTGCAGTTTATGTGCAAATACTACCCCATTTTATATAAGAAATTTGAGCATCCATAGATTTTGGTATTGAGGGAGGCTCAATACCAAGAGGAGGGTAGGGAAGGGAATAAAAAAGGAAAGAAAATAGCATTATGAGTTTGGTGAGTTCAAAGAGTTGAAAGATTATAGAATTTCTAGCTACCCATTTTATAGGATAGCCATCTGCCTTACTGTACCAAAAGCCAATTATTAGTGGACAAACAGAGCTAATACAAAGGAGCTTTTGTTTGAAATAAGGTTGGTGCAAAAGTAATTGCGATGTGGATACCCTGTGCTATGGGAGGGGAGGGGATCCAATCCCCTGAGGTATGACTATAGTTGTTACTAGGTATAAAAGGTTTAGAAATCCAAGCTCTGTCCACTAATAACTGGCTTTTGGTACAGTAAGGCAGCCAGCTATCCTGTGAAATGGGTGGCAAGAAATTCTATAATCTTTGAATTCCCTGAACTCACCAAACTCAAAATGCTGTTTTCTTTCCTTTTTTATTCCCTTCCCTACCCTCCTCTTTCCACAGTTTTGCCAGAAATCCACTTGTGGATTTAATTTAATGCAGATATGTACATAATATACAGACATGCAGATATGGGCATAATTTAATCCAGATATGTAATATTTTGACCTTTCTGATCGTAGATGCTTGGGAAAGTTGTCTGTTGAACTTGCATTAATCAGTTATGACATTTTAGATTGCAAGTAATTGGAAAACTCAGCTCAAACTGACTTATGTGAAAAATGGAAATGTATGGTGTATATGATTGAAAAGGTGTTAAAATGTTTTTTTCATAGCTTGTTTCAAGAAACTTGCAAGAATGTCATGAGGACCCAGTGATTTCTATATACATATATATTTCTTATTATGTATTATGTATATCCTCATATATAATATATATTCTGAAAGATCTGATGTGCTGGAATATATACATGCATATGATCATGTATGTTACATATGATCATTGTATCACTGATATACATATATATCATATATATATTTATGTATATGTACACACACACACACACACACACACTTCTCTGTATTGGCACCATTTTTCATACAGCATCTCTTTATTATCACAGAATTATTGCAGCTATTCTCTAATTTATGATCCCTCAGGTTCAAGTCTAGTAGAAAGAAACAGTTACCTATTTTTCAGAATACCCAGCAGAATTCTTACCACATTTCATTGTCTCTGTTTGGTCATGCTGCCATCCCTGAACCAGTCACTGTGGTCAAGAGAATGGAACGCTCTCATTAGTTAAGCCCCAATTCAAGTTGCAAATTAATTTGTGGAACTGAGTTGAATCAACTCTTCCAGAACTCTGTGGACTAAGACTTGGGAAAGGCTTCTGCCCAGACGATAGGAAATGATTATCTAAAGAGGAATGAAGGGTTACTTGAGGGCAAAGGTAGAATTTCCATTACATAGAAGTGAAGGTATTTTTCCCTTTTCTTTAACCCTTACAGATCCACTCCAACTTTGTTTTTACTTCTAATTTCCTTTTTTGCTTTTTAAAGTGACTGTTCATCGAGTCTTTTGTTATCTTTATCTTCCTTATCATAGAAAACATACATTGAACCAAGACATGATCATATAATCTGGAAAAAATACCTTTGTCCATTTGTTGATTACTGTTTTATAAGCTCTGGATAAATACAGCAGAGGCTACATTTTACATCTTATGAATTTCACTGAGTCACATATCTGAGAAGGACTCTGATGTTACCTAGACTCTATATCAATCCCCATAACACCTTGTACAAGTGATAATCTAGTTGAGAGGTTGGCAAACTGCAACTCAGGAATAGGCCAAATCTAGCCTGCTGCTAGTTTTTGTAAATACAGTTCTATTAAAACCCAGTCATACCTATTTGTTTATATTGTCTGTGACTATTTTCATCCTACAACAGCAGAATTGAGTAGTTGCAACAGAGACCTTACAGCCCACAAAGTCTGACGTGTTTACTCTCTGGACTTTTACGGATGAACATGCTAAACTCTGGTCTACCCATTGCTTGAGTGTACTCTGCTGACAAAAATTCTTTCTGAGGGAGAATCATTTCTAAAAGCTCAATTATCAACAAACAAAAAGAATGCTACTTTCATGTGTCATCCATTCACTTAGGTCTAAAATAGTATCCCACCTAGGAAATTGTTTCAGTTAAAACACAAACAACCTGGTTTCACACCTAAATTGTACCAAATTAGACAAATTTTTCTTGCCTAAATGAGTTTTCTTGCTTAATAGTTAAGTTTTAAATATTGATAACCTGTATACACACACACAGCATGGAGTACCACTCAGCCATAAAAAAGAATGAAATTATGTCTTCTGTAGCAATATGGGTGGAGCTGAAGGCCATTATCCTCAGTGAAATAACTCAGAAACAAAGTCAAATACCACATGTTCTGACTTATAAATGGGAGCTAAACAATGGGTACACATGGACATACAAAGTGGAATAATAGATATGGGGCACTGTAAAAGGTGGGAGGTGGGTAAGGGTTGAAAAAATACCTAAATAGTGCACATTGTACTTCATAGGTGATAAGTACTTTAAAAGTGTGGACTTCACCACTATGCATTATATACATGTAAGAAACCTGCACTTGTGTCTAAATCAATAAAAATAAATAGAGACAGAATGAGAGAAAGAAAGGCAGACAGAAAGGAATTAAGAAAACCTTATTCCCTCCTAGCAGCTCCATGATCAGATAATGATTTTGTCTGTATACACTGAGCTTTTTAAGGACAAGATGAACTTTAAAATGTCAAAAGCAATCCTTCAAAAATATACAATTCAATCAATTGTATTTACTCAATAAAAAAAAAACCCTAGTAATCAATTGAGTAAACATATGGCTGTCAGTTGCTAGTTTCATCAAAAAGCATACTGCATAGTCGTTGTAACATACTCATTTTGTGATTGTTAGCTATATTTGAATTATAAATGTTGAGTTTATTTTCAAGACTACGTAACATACAATTTAACATGTTGCTATTGCATAAATATGCTCCATTCATCTTTTGAGAATGTTTAAAGCAGCTGTATTTATTTTTAGAATTGAGTTAGTTTCAGCTTGGATATTGTGGGGATTGCTAAATCAACCTTTTAAAAAGTTTAGGCTGGACATGGTGGCTCATGCCTGTAATCCTAGCATTTTGGGAGGCCAAGACAGGTTGATCACTTGAGTCCTGGAGTTTGAGACCAGCCTGGGCAACATGGCAAATACCTGTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGATGGGTGCCTGTATTCCTAGCTACTCAGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAGGTCGAGGCTGCAGTAAGCCACTCCAGCCTTGGTGACAGACAGAGTAAGACCCTGTCAAGAAAAAGTTAATAAATAAAAAATAAAATGTTTAGTACATTTAGCTACCTATTTTCTTGGATTGTAGATAAATGGAATCTTGCTTCAATGATCTAAGTTTGAGTGTTTTTGTTCTATTAAGTGACAGTGCAAACAATGCTATCAACTTAATAAAATGGATTAAAATCCACAAAATATACTTTGAAACAAACTAAATTAGTACTTGTTAATCTTGCTTGGTATATGATTGATAAATATTTAAATACCACATATTATTTACTTCCAGGAACCCTGTTTTAATATAAAGGATTACAGAAGGTCTATAAGTCAAATTTTATTTGAATTTTATTACTTAGTTGATTTAGGATGGAGATGTGCTAAATATTATTTATTGCATGCTCTGACAAGTAGTTAATTCTAATTAATTTTTTATAATATTAGACATTTTCCCCCTCTGGATTCAGTATGAATGTATCTCAAAAATGATTTCAGAGTATTAATATTGTAAATGTAGCAGTGATAGGGATAAAAATGTCAACATTTAAGCTCATAGCCTGAATCTGCTTTTAGGAATGATTTTATGCTAATAAAATTTACTTAATGTTGATTTATTTAATGGCAGTAACCATGGTAGGTTAAATTACTTACTATGCTAAATAGATGAAAAAGCAACAGTGCCACCATAGACTCGTCAATGTGGCAACTAGTAGAATGAGGAGAAGGGATCCTTAATGAAGACTGTAAGCAGAATACATAGAGAAAATTAAGATAATGAGTAGTAGGTAAGAGAATAGCACTTTCCAAAATTATTTCTTGGCAGTTCTTTGACACTTTTAGACTATTATTGAAAGTGATCTTTTTCTTTTAATTATTGAAAGTGATTTTTTTTCTCTTAATAAGCTGTTTGGAAACAAATGGGATTCCTTCAGTTTTTCTTAAGAAACCCCAGAACTGTCATATATCACAGGCCTTGTTAAAGCATATATATAGAAATAAATACTAAGATATAATGTTCACTGATCTTGAGCACAAGATTTCGTTTTTCGTTTTACTGTGGTTTTGTGTTGTAATTTTCAAATTGAAAAAAATGCCCATTCACATTTTATTTTAAAACCATGATCTCTTCTGCTCTCTTTGTAGTGGTCGAGTAGTATTGCAGTTGTTCTGATCTCTTTGCATTGACTTACGGGATGCCATTTTTTCTACTTTCTTTTCTTACCATACTATTACTTAATGTGGTTTCCCTTTCACTGTTCTTAATTCTCATTTCCCACACCGTTTTTTTTTTGTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGGGCAGTGGCACAATCTTGGCTCACTGCAACCTCCATCTCCGGGGTTCAAGCAATTCTCCTGCCTCAACCTCTTGAGTGGCTGTGGTTACAGGTGCACACCACCATATTCGGCTAATTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCGTGTTGGCCAGACTGGTCTCAAACTCCTTACCTCAAATGCTCCACCTGCGTTGGCCCCCCAGAGTGCTGGGATTACAGATGGGAGCCACCGCGCCTGGCCCACACACCGCTTTAAATGTTGAGGAACTCCAGAATTCCCTTCCTGTGTATTTGCTGACTTAATACATTTGACCGTTTATAAAATAAAAGCATTTCAAAATAGTTTTTAAAACAGAATAGAACAAAAGGTTTAAATAAGTTTCAAAGCGTTTTATATATCAGTGATCTGTGTTACTATTCGGTAAATATTATGACATTTTTCTTTTAGAATTCAAACCTAATACATCAGAAAGTGCCTCCTCCTAACGATCGACAAGGATCTCCAATACTGTCATTCATCATTCTTGAACAATTTAATGCTATTCGTTTAGTACAAAGTGTCCACCAGTCTCTTGCTGCTCTCAGCAAAGTCATCAGAGGAACTACTTTACTGAGTTCAGAAGTACAAAAATTGGCAAGTGCTTTATTAAACCAAAAGGTAAGCGAGTACTAACTGTATGTATTTTTATTTCATTGTTATAAGTGACTCCTCCATCACACATATATTTGTCAGGAATCATATAGTTAATAGCAGAAGACCCGAGTCACACTGGCTTAAGCCATATAAAAATTAATTGACTGATGTAACTGAAGAATCCAATGGTATCTAGCATTATGCCAGCTTGATGTAGGAACTTAAATTGTCATTAGCATGTCAGTTTATGTTAGCTATCTAGTGTTACATATATAATGAAATTTATGTTGATTTCACTTTGGGGCAGGTCCCCTATACATGAGCTTGAGTTTTATATTCCAAGCTCCAAGTCCAACAGAAAGAACACGTGTTTTCTAGTAACACACACAAAAATCTTAGGATTTGCTTTGATTAAAACCAGTTGGCTCATGCGTTATGCCTATTCCCATACTAGTTCAGTGGGCAGTGTGTGCAAAGCTCTCACTGACCAGAGCTTCAGCCAAATGCCTCTTCCTGGAGCTGGGGATGGATTTATCTTTGCCTTTAACACATATACTGAGAGTAAGGAAATGATGATTACCAGTGAAAAGTCTAGATAGTTTTAGAAGAAGGGGAAATCAACACTTCTTGTGCTGAAAAATTGGACCATTTTAAATGATAATAAAATCCATGTATTTTATATCTATTTGATAGAAACAAAAATATGGGATGTTCTGCACAGATTTATTTTAGCTGTTTGGAGAATAGAAACTTTGCAGAAGTTGGTATCTGGAAAATATTTCAGTGGAGTGCTATAGGAATTAAGTTTTCTTTTTTTTTTTCACGCCCCCTTGCTGTTTGTACTCAATATAGGGAAACCTCTGATAGTCAACCTAACAGTCCTCTCTGTTTGAATATAAAATAATAGCCTTCCTAGAACTTCCTACATTCACATATACTAGCATTAAAATATCCAGTGCTTTTCTACATATACAGAAAGGTCTACTCTGGCATCCTTGTCTTCTTTTTTATTTTACCTTGAAAAAGAATCTGTTTTGCATTGTTTTTTCTTTGTACATACATTGCCGTCTCTGTTAATCAACCATGATTATCAAAATACTATAGTTTTGATTTGTACCACAGATTGTAACTAAGTTGTTTTTAATTTGGAGTAGATATATTGTCAGTCATGAAAGATTCTTGGCACAGTGAAGGAACCAGTTGGAAAGGATTCTAAACTTTCTAAAAACTTTATTTAATTAACTCGTTTAATCATCACAGTAACATCTTGAGTGACATACTGTTGTCTCCATTTTACTGTGATGAATTTGAGGCAGTGGGGTGTTACATAACCAGAATCACACAGCAAAGAGTTCCAGAACCAGGATTTGAATCTGGGTATGTCCTGTTGTCATAATAAATGTAAATGCTTCAAATTTATGTATCAAAATATAAATGCTCTTGAGAGTATATTTCTTTATCCAACTATATGCCGTACAGAGTAAAATGTATCATTAAGACAAATTGCTGTTGAATTAGAAGAGAATAATAATATAGGAAGATGACATGTAGAAGAGAAGAGTAAGTCTAGTAGGACGGGTACACAATGAAGTATAATTAGGATTGGATCAGATTTTGAGGTCTCTAAAGCCAAAGAAAGGAACTTGGATTAAATGCTGTAGGCAATAATGATATTTATATGTAGAAATAATAGAGCAAAATGGCTAAGAATGTGACCGCTGGAATATGTCTGCCTGTTTGAGTTCTATTCTACCACATAGCAACTGTGTAACCTTGGGTAGGTTAATTAAGCATCTCTAAACTTCGCTTTTCTCATTTGTAAAATGAGGGTAGTAATAGTACCTACCTCATGGGATTATTACGAGAATTAAAACATCATTAAAGTGCTTGGCACATAGCAAGCACCCTACAAATGCTGTTCTTGTTATTGTTATTTTAGGATAATTTTATTATGAAAAGCTCTTCAAGCATTTATCTGGTATCATTGTACAAAATAAGTTTATAGAAATAGGAATACCATGTAGGTTACTGTAATTCTCATCTCAGGAAGAGGTAGTTAAGTTAGGGCCTGGAATAAGATATTTCAAGATGGTTCTATGTGATATTAATAAAAAATGTAAGAGGTAATTGGTAACCCATCAGAGACAGTGAAGAGGTAAGAGGTAACCCATCAGAGATAATGAAGGAGGTTTCAAAATATTCTGAGATTTATAGGAGGGTGAAGTAAATACCTAAAGTAATAATGTTGGATAGTGCTTGAATTATCTGTTTTTGACTACCTTCTATTAGTCTGTGGTGAGCTCAAGTAATTGAAACCCCTGATGCAAGTAATACAGATGTATTCAGGAGGGAGACTTCTAAGGGGTTGAGGGGAAAAATGCCTGTTGAGGGTCAACGTCCCCCTAATTCTGGTGTAGGAGCTAGACTAGAGTGGTAAAATGCCCTGAAGAAACCAGCAAAAAAGAATACTTCTGAGATAATAAATAGGATTATTCCATATTGGAGGCCTTTTTGGACAATTGTTGTACGGTGGCCTTGAAATGTGCTTTCTTGGATAATATCACGTCATCATTGGTATACAGTTAGTGTATTGGTTAGCAAGCCTAGGGTTAAAAGAGTCATAGAGTTGAAGTGAAATCACATGGCCAGGCCAGATGTTATTAGAAGAGCTGAGAGAGCCCCTGTTAATGGTCAGGGACTGGGGTTGACTATATGGTAGGCATGTGTTTGGTGGGTCGTGGTGTTGTCATGTAGATAGAGGCTTACTAGTAGTGCAAAGACATAAGCCTGAATAAGGGCTATGGCGAATTTGAGAATGGTTAGTAGGATTAAAATAATGAAAGCAATTGAAGCTGTGGGAAGACTAATAGTTGATAGTACTAGTGTGGCTCCTCTGATTAAGTGTATTAGTAGGTGGCCAGCTGTAATGTTGGCTGTTAATCACTCAACTAGTGCTATTGGTTGGATGAATAGGCTAATAGTCTCAATGATTACCAATACAGGAATAAGTGGTATGGGTCTGCCTTGTGGTAAAAAAGTGGGCTAAGGAGATTTTCATTTTAAACTGGAAGCCTGTAATGACTGTGCATGTTCACAAGGGGATTGCTATACCTAGATTTATTGATAATTGGGTAGTTGGTATAAATGAGTAGGGTAGAAGCCCGAGGAGATTGGTCGAGGCAATGAAGAAAATTAGGGATATCAGTATTAGGGATCAGGTTTGTCCTTTAATGTTATGGGTAATTATTATTTTAGTAAAGTTGAACTATTCATTGTTGAATGGAGATCAGTAGATGACTAATTAGATGATTGGAGGTTAGAAATAGTATGGTGGGAAATAAAATGGTTAATACTACTGCGGGTAGACCTAGAAATGTTGGGGTAATAAAAGAGGTGAATAAATTTTCATTCATTTTAATTCTCAAGAGGTTAAATGTTCTTGTATTTTGATTATTTTTTGTGTAGGGGGTGTGTAATAAATGAAATTTGGTAGTTTTAACTGAATAATGTAGAATAAAGTTATGATTATTGACAAGATAACAATAGATCATGTGGAAATATCTAGTCGAGGCATTCACTGCAGAGAGGTGTAGACCCCTCAGTCTTTAACTTAAAAGGTTAAAGCTAAGTAGCTTTACAGTGATATTATAGTGTGGTTGTGGATCAGGTTTCGAAATTTTTTAAGGGAATTGATTCTAGGACAATAGGTATAAAACCGTGGTTAGACCCACACATTTTTGAGCACTGTCCGTAGTAAAGGCCTGGTCATGTAGCAGTCAAGGTAGTTTAAGCATTCAGGAATTGCATCTGTTTTGATGCCTAATGAGGGAATAGTTCATGAGTGTAGGACGTCTTCGGATGAGACTAATATACAGATGGGTATCTCTATTGGGAGAACTGTTCAGTTATCAACTTCAAAGAGTTGAAGCTCTCCTGGCTTTAAGTCTGCTGTTGGGGTTATATAAGAATCAAAGCCTAACTCTTCATGTTCTGTATACTCATAGCTTCAATATCATTGGTGACCAGTTGTTTTGATGGTAATAGAAGGGTTGTGAACCTCATCTGTTATAGAATACGTAGGGATGGGAGGGCAATTAAAATTAAGATAATGGCAGGTGAGATAGTTCAGACAGTCTCGATTTCTTGGGCATCTATGCTGTTAGTATGAATTAATTTGTTGTGAGTATTAGGGAAATAATATATAGGACCAGGGAACTAATTAGGAAAATAATTATAAGAGTATGGTCATGGAAAGTGAGTAATTCTTCCATAATAGGGGATGTAGCACCTTGAAAGCCTAACTGAACTGCATGAGCCATTAAGACATACAGGGTTTAACCTATAACTTAACTTTGACAAAGTTATGTAATGATTTTACTAGTATCTTATCAAGAAATTCATAGAGGTTATGGGATTGGCTAGAAACCAGTTTCAGGAGGTTCGATTCCTTCCTTTTTGGCTTAGGTTTTCATGCAGGTTGGTTCTTCGAATGTGTGGTAAGGTGGTGGACAGCCGTAAAGTCACTCTAAATTAGTAGATGATTGTTCAGTTGTTAGAACTTTTCATTTTGAAGCAAAGGCTTCCCAGTTCTTAAAAATTATTAGTATAACTGCTGCTAGTGAGATAAGTGAGCCTACTGATGAGATAATATTTCATATGGTGTGCACATCAGGATAATCAGAGTAATGTTGGGGCATACCAGATAGGCTGAGGAAGTGCTGTGGGGAAAAGATTAAATTAACACCTATAAATATAATGGTGAAGTGGATTTTAGCCTATCTGATTAATTGTATAACCTGAAAATAAGGGGAATCAGTGGACAAAGCACCCTATCATGGCAAATACCATTCCTATTGATAGGATGTAGTGGAAATGGGCTACAACATAATATGTGTCATGTAAGATAATGTCTAGTGATGAATTAGCTAGTATAATGCTGGTTAGACCTCCTACTGTGAATAGGAAAATGAATCCTAGGGCTCAGAATATTGCAGGAGATCATTTGATGTTACCGCCACGCACTGTAGCTTATCAGCTAAAGACCTTGATGCTAGTAGGGATAGCAATAATTATAGTAGTGGCAGTGAAGTATGCCCGTGTGTCTACGTCTGTTCCTACTGTAAATATATGGTGAGCTCATACGATAAACCCTAGGAAGCCAATTGATATTATAGCTCATACTATGCCCATATACCCAAATGGTTCCTTTTTTTTTCAGAATAATATGTTGCGATATGGGAGATTATTCCGAAGCCTGGTAGAATAAGGATATAGACTTCAGGGTGACCAAAGAATCAGAATAAATGTTGATACAAGATAGGGTTGCCTCCCCTAGCAGGGTCAAAAAAAGTAGTATTGAGGTTACGGTCAGTTAATAGTATGGTAATGCCGGGGGCTAGAACTGGGAGAGAAAGGAGGAGAAGGACTGCTGTAATGAGGGCTGATCAGACAAAAAGGGATGTTTGATATTGGGAAGAGGGTTTTATATTAAATTGTGGTAATAAAGTTAATGGCTCCTAAAATAGAAGAAACACCTGCCAAGTGGAATGAGAAGATGGTTATACCTACAGAGTTTCCTGCATGAATTAAGTTCCCTGCTAAAGTGGGATAAACAGTTCAGCCATTTCCAGCACTGGCTTCTACCATTGAGGATGCAAGCAGGAAAGAGGGGAGGAGAAGTCAGAAGTTCATATTATTTATCCGGGGAAATGCCATGTCAGGTGCCCCAGTTATCAGAGGGACTAGCCAGTTACCAAAAGCCCCAATTATGATTGGTATGACCATAAAGAAGATTAATACAAATGCGTGGGTTGTAACAATAACATTATAAATCTGACCATCTCCTAGCAGAGTTCCTGGTTGGCCTAATTCTGCTCGAATTAGAAGGCTTAAGGCGGTGCCCCCTATTCCCACTCATGCGCCAAATAACAGATATAGTGTTCTGATGTCTTTGTGGGTAGTTGAAAACAATCAATGATTGATGAACGTAAGTGAAAAAAAGGTAAAATGGCTGAGTAAGCATTAGACTATAAATCTAAAGACAGAGGTCAAGGCCTCTTTTTACCAGCCCTGAGGTGATTTCTCATGTTGAATTGCGAATTCAAAGGGGCAGCTTCAATCCGCCTTTCCCCGACAAGGGCAGGAGAAGTAGATTGAAGCCAGTTGATTAGGATGTTTAGCTGTTAACTAAATTATCCTGGGTTTGAATTCCACCAATCTAGCAAGGGCTTAGGTTAATTAAAGTGATTGATTTGCATTCAATTGATGCAGAATAGTCTTGCAGTCCTTAGATCTGTTACAGAAATTAAGTGTAATTTACTTACTAAGGGCTTTGAAGGCTCTTGGTCTTATTTAACCTAAATTTCTAAGTTATGATTAGTATTATTGGAGAGATGGGTAAAAGGAGGGGTAGAAGAAATAAGTGAGAGGAGGAGGAGTATGAGTTTTGTGCTTTCGAATTGTCATTTTATTTTCATATTATTAGATGTGGGGAATATTGTTACTGAGATAGAATAAATTAGGCGTATATAAAAGTACAGGTAGAGTAGGGTTATGATAGCTATAATAGTTGGGGTAATAAGACTTGTTTTTTGTAAATTCTTGAATGATGGCTCATTTGGGCAGAAATCCTGTTAGTGGAGGTAAATCTCCTAGGGATAATAGAATTAGTGGGATTATAGGTGTTAACCATGTTAGTTTGTTTCAGGCATGAAATAGTGACAGGGTTGTAGTGCTTATACTCAGGTTGAGTGAGTGCTAGGAATGCGGCGATTGTTAAAGCAAATAATCAGGTTTAGAATAGTAATGCTTGGGTTATAAATTAGTACTGCTATCATTCAACCTATATGATTAATTGAGGAGTAGGCTAGGATTTTGTGTAGCTGTGTTTGATTAAGTCCTCCTCAACCACCCACCATAATGGATAAAATTGTGATAGCATATTTGTGTGTTTATTGATGGGAAAATTTGAAATATAATTAAGATAGGGGCTAGTTTTTGTCATGTGAGGAGAAGTATGCCAGACATTAGAGAGCTTCCTTGGGTCACTTTTGGGACTCAGAAATGAAAGAGGACTCTTTCTAGTTTTATTACTAGGGCTATTATTAAGGATGAAAATCGATTAATAGTATTTATTGTTCATTGTCCAGAGTACAGGTTATTGGAAAGGATACCTATCATACGAATTATAGATGTGGTTGCTTGTGTAAGGAAGTATTTGGTGGCTGCTTCTCCAGGGCCGGGATTTATTTTTTTTTTTAATTAAGATTGGAGTAAGAGCTAATATGTTTATTTCTAGGCCTGTCCAGATGAGAAATTAGTATGAGCCTAGTATTGTGATAAGAGTTCCTGTGAAAATAGTTAAATAAATAATAAGTTGGGCTGGTGGATTAATTAGTACAGGAAGGAGATAACCAGCATTTTCAGGGTATGGGCCTGATAGCTTATTTATCTGACCTTACTTTAGGACATCGCGTAATAGGTAGCACAGACAATTTTGGATTCTCACGGGTAGGTTCAATTCCTATAGTTCTAGAAATAAGAGGATTTAAACCTTGTTTACTCTATCAAAGTCATTCTTTTATCAGACATATTTATGTTTGGGGTAGAATGCTGGAAATTAGAATAGGCATTGAGACATATGCAGAATGCTAGCGTAAGTGGTAGAAAATTTTTTCATAGAAGATATGAATTGTTCGTAGCAGAAATGGGGGTATGCTGTTGGAATTCGTAAAAACAGGTAGTTACAAGGAGTGTCTTGATAATGAAATTTGTGGTATAGAGTACTGGTGAATGTATGGTGTGTAGTGCTCCTAGAAAAATAGTAGTTAGGGCATTTATTACGATAATATTCATATATTATGCTATAAAGAAGAGGGCAAATGAACCTGCAGCATATTTGATGTTGAAGCCTGAGGCTCTGATTCTCCTTCTGTTAGCTCAAAAGGGCCCCAGTTAGTTTCTGTTAGTGTGGAGATAAATCAGATTATGGCTAGGGGCCATGATGGTAGGAGTAGTCAGAGGAATTCTTGCTTTGTGATGAGTGCATATAAGTTAAATGAGCCACTTATCAGAACTGATAATAGGATAATGGTTAGGGTGACTTCATATGAAATTTGTCTGGGCTACAGCTCATAATGCACTGATTCGTACATAATTTGAATTAGATGCTCATCCTGATCATAGAATAGATGGCTAGGCTTGATGTGGCTAGTATAAATAGGAGGCCTTTATTTAAAATTAATAAGAGGATCCGGTATAGGGAGGTGAGTTCACAAGAGGAGAGCGATAGAAAGGGCCAGGGTTGGAACAGTAATATAAAGGGTAACGGTAGATGTTGAGGGTCATAAGGGTTCTTTGGTGAAAAGTTTTATTGCATCAGCAAATGGTTGAAGCAGTCCGTAGGAGCCTACAGTGTTAGATCCTTTGCGTAGTTGTATATAGCCTAAGATTTTTTGTTCAATGAATGTAAGGAATGCTATAGCAATTATAGTGGGAATAATAAATAGGAGGTGGTTAATTACAGGCATATTGTTAAGAAGAGGAGTTGAACCTCTGATTTATAAAGTTTTATGCAATTACCGGGCTCTACCATCTTAAACCCTGTTCTCGGGTTGGATGTGTGATGATTTGTTTGATTGAGATAGTATCATCTATGAGGCGAGGTTGCTTTATGAAGTAGGCCCTATTTCTCTTGTCCTTTCGTACTAGCAGAAATATTAAATAGATAGAAACCGACCTGGATTACTCCAGTCTAAACTCAGATCACATAGGACTTTAATTGTTGAACAAATGAACCCTTAATAGCAGCTACATTAGGATGTCCTGATCCAACATTGAGGTCGTAAACCCTATTGTCTATATGGACTCTAGAATAGGATTACACTGTTATCCGTAGGGTAACTTGTTCAGTTAAATTATTGGGTCAATATATGTTAACTCGCTTAGACTAGTGCCATTTTAGTTTAGGTTGTTCGGAGGTTAAATTATGCTCCAAGGTCACCCCAGCCAAAATTTTTAATGCAATGGTAATGGGTTAGGGCGAGTTTCTATTTGCCTTAATGAATTAAAGCTCCATAGGGTCTTCTCATCTTGTTTATATCCCGCCGGATAGGTCAGTTTCACTGATTAAAAGTAAGAGACAGCTGAAGCCTCGTGTGGCCATTTATACAAGTCCCTATTTAGAGAACAAGTGATTATGCTACCTTTGCACAGTCAGGATACCACAGCTGTTGAACATATGTCACTGGGGACATGTCTAATACTGGTAATGCTAGAGGTGGTGTTTTTGGTAAACAGGCAGGGTAAGATTTGCCGAGTTCCTTTTACTTTTTGTAACCTTTCCTTCAAGAATACCTTTGTTGGATTAACAGTATAAATAATAAGGTGCTTATTGTATCACTTATTAATATTAGGCTGTTAACGGTCAGTGGGTTATTCCGGTTTGATGTAAGCTTATGTGATGGAGGATATCTTCATGTTACTTATATTAACATTATTGCTTCTATTAAGTAATAGATTAGTCCAACGTAATGTTAGGAGTTCAGTAGAGTGATTAGAATTTAAAATAGATGTTGAGCTTGAATGCTTTCTTAATTGGTGGCTGCTTTTGGGCCAACTATGGTGGTAATAATGTTTACTCTCTGGAGGAAGGTTATTTCCTAGGGTCTAAAGATCTGTCCCTCTTCAGACTAGCAGTTAAACTTACAGGGGACTAAGTAATTCTGTGGGTACGTAGACGGCTAGGCTTGATGTGGCTAGTATAAATAGAAGGCCTTTATTAAAATTAATTAGAGGATCTGGTATAGGGAGTTGTCTAAGATTCTATCTTGGACAACCAGCTATCACCAGGCTCGGTAGGTTTGTCACTGCTACTCATGAATCTTCCCACTATTTTGCCACATAGGTAGGTGTGCTCTTCAGCTGTTCTTGGGTAGCTTGTCTGGTTTCAGGGGACTTGGCTATGGGTCTCTGTGTAAAGTTAGTTATTTCTAGTTAATACATTATGCAGAAGGTATAAGGGTTTGTCTTTGCTTTTTAATGCTTGATTCAGTTCTTTCATCTTTCCCTTATGGTACTATGTCTATTGTGCCAGGATAAAATTTCCATCGCCTATACCTTTATATAAGATAAATGGTTTAAGATTATTTGATAATGTCTTTAGTGAGGTTTGGAGTGAGAGTTGGCTCAAAGTGATCAGGTCATGATGAAATCTTCCAGGGGTAAGCTGGGTACTTTGGATTAAGCTACACTTTGGTTTGTCCAAATGCACTTTCCAGTATGCTTACCATGTTACAACTTATCTCCTCTATACGTGTGTAGAGAGATTTTAGTAATAGGGATTTCTAGAATAGTATTTGGAAAGGTGACAGGCAGTGTGTGTGTGCTTCATGGCCTTATTCAACCAAGCACTCTACTCTTGGTTTACTGCTAAATCCTCCTTGAGTCTTTTGATTTCATAAAGGTTGTCGTGAGATTTTCTGGGTATAGAAAATGTAGCCCATTTCTTCCCACCTCATGAGCTACACCTTGACCTAATGTTTTTATGTGTATTACTTGTGCTTACTCTATAACCTTTTTAGGGTTTGCTGAAGATGGCGGTATATAGGCTGGGGGCAAGAGGTGGTGAGGTAGATCGGGGTTTATAGATTATAGAACAGGCTCCCCTAGAGGGATATAAAGCACCGCCAAGTCCTTTGAGTTTTAAGCTATTGCTTCTAGTATTCTGGCGAATGGTTTTGTTAATATAACTATTATAGTTTAGGGCTAAGCATAGTGGGGTATCTAACCCCAGTTTGGATCTTAGCTGTCGTGTCTTCAGGATATTAAAGCCACATTCGTAGTATGTTTTATTTCAGCCTAAGTTTTTTACAACTTAAATGGAGTTTAGCTTTATTGAGGGCAGATCTTAAACACTCTTTACGCTGAGTTCTATTAGCTTGGGTTAATTGTATAGCTTGGGTTCATTGTATGGCCACAGTGGCTGGCACGAAATTGACCAACCCTATATATCAGTATAGCTTAAACGTTCATTTATTACTAAATATTTATCACTGCTGTTTCCCGTGGGGGTGTGGTTGAGCAAAGTATTTTGAGCTGCATTTGTGCATGCTTGATACTTGCTCCTTTGATCCGGGTGATGTAGAGGGCATTTTTCACTGGGGTGGGGATGCTTGCATGTGTAAAGACCAGGACCAAACCTATCTGTTTATGGGGTTGTGCAAACCCATCTAGACATTTTCAGTGTCTTCCTTTAAATAATTAAGCTACATTAACTGCATAAATACTTCAGCGTAAAGTTAATTAGAATATGAGGAAAGAAGAAATAAGTAAGTATAAACCGTCATTTACAGTTCTAGAAATCCAGTGGTTTAAAGTTGAGTTGGCAGAGGTTTAGTTGGGGGTTACTCATAATTAGGGTATAATTGATTTAGGCTATGATATATAAGGTAGCGCTTTCAGAAGGGTGTATTCAAGGTATCATATCAGTATTAGGGTGGGAAATTGGTTGTTGTGCTTATTGTATAAAATGGAGGCTTTGTTTAGTAGGGTTTTCAGATTGTTAGGAAAATTATATCAATCGAGGGGTAGCCGTTGAGGTACTCATGATTAAAATATGATTTCTGGGCAAATTTGGTTTCTTGTTTTGTTTCTGCTGTTAATTATCTCGGTGACCTGTGGCATAAACACTTGAAAAAAAAAGGATAATTTAACTTTAAATCATTTTCTATGATTATAATATAATGTGGCTTAGATTATGTTGAAAGATAAAGAACAAAAAGGGCTTAATTATATGAAACAATTTTTTAAGACCAAAATATTTTAGAAAGGGGTCATACATTTTTAATTTTTATATTTTTTCTTTCTTTCAACCAAGATCTACTAAGTATTTCATTATTTCACACAGCAACAAAACTGGATGGCTTATTTCTTAATTAACATGTATTTATGTAGGATGCAGATAATTTCAATATATAAAGTATTCTATATTATACTTTGAATTAAGAAATGCAGCCTCAGAAAATATCACTATTTTTGAAATATTTGTATTATTTGCATGAAAATGAATTTGTTAAAATTCTTTCAAAGTATGAAAAATGTGTTTTACAAAGCATGTTTAAATTCTGTCACAGGTGGTATTCTTAGAAATCGTTTAGGCTGTTTGATGAAATGCAAATGAGACTAGTCTGACTTTCACTAAGATCAGATCAGTAAAACACTTTCTGACATTTACTTTCTAATGAGTTTTAACAAAAACTGAGAATTCAGTACTACCCCATTTATTTCAAAATAAAAGTTAAATTTTTGTTAAATTTTTGTTACATTTGAATGTGACAAGTTATGTATGATGCCATACGATTTAATGTGCTTTAGGAAAGAGTTCAGTACTTGACATTTTCTTTACTATGTGTGACACGATTGGAGTAGGAAATTTCCTAGAGAGAATAATGACTTTTATTTCTTTGATAACTTATGATGATCTGCTAAAACTTTTTTAAATACACAATATTTATAATTTGCTTTTTAAAGAAAACAATATTGTAAAATAGTTATCTTCTACATGTTAGAACATAGACTTTAAAACATAATTTAAAATATACAGCAAAAATTACAAAGGTGCAAATGCCAAATTGCTTTATCTTACTGAATAATCACTAAGAGAATGTACCATTTTAGTAGAAATTAATAGGTTGTATTGATTAATTGAACCCCTTTTAAAGCCAACATATCTATTGGTTATACATTTCTGTGTATTCTAACATGCAAGCTGGTAACACTAAATGGCTCTTCAATTTTTTAAACCAGGGAGTCCTTCAGCAATATGGCAAAAATGCTAGTGGATCCTGTGTCTTTTAATAATTTTCAAAACTGTTTAATCATTTTGAAATCATTTTTTGATCACTGACCACCTTAAAAATTGAAGAGGAAGGATGTACTTTCTTAAAATATGTTCATACATATACATATAGAACTTTATTATATAATTTTGAGATGTATGAAGTTAATATCTTCTTTGCTATCCTGGTTATTCCTTTCACTTTCACTCCTTTCCTCTACCATGGCCCTCTTTGTAGGAGTGGTTCTCAAAGTGTGGTCTCCAGACCAATATCATTAGCATCACCTGAGACCTTGGCAGAAATATGAATTCTTGTACCACCCCCCACCTACCCTCCAGACTACTGAATCAGAAACTCCCAGTGTGTTTACTTGCAATTTGTTTTATCAAGCTCTTGAGGTGCGTGTCAACTTTGGGGAAATACTGCAGTCAGAATTCACATCCAAAAAGGCAGTACCTGCCATGTCACCTTTCCATCTATCTCCACTACACTTTGTGAACATTTATGACTACATCCACCATGGATCTTTATAAAATGACTGGGGACCTTATTTTTTGTTAAAAGCCTATTTTTATTGTTTACTTGCCTGCAAATTAGTTCTTAGGAAAGTTCTACTCCAACTATTTTAACAAATAATTATAAACGTTGAATAATTTGTATTTTTTTCATTTAAGGTATTACCTCATGTTTTAAAACATAATATTTATGTTAAATAACAGTTTACTATTTATGCAGAACTTTAGTAGCCCTTATGAAATTTGATACTCTCATCCTGCTTTTACTTAAGAAGACTGTGAAAGAGTTACATCCTGGTAGAGCATTAAAGCCTGTACTGTAATTCTGATGTTGTGATTCCTAGATCAGAGTTCTTTCCACCTTACTGCTCATTAAATATTTTGCTAGATCAAGCAGCTAAATTATAGTGTTTGTTATAAGATGCAGTTATCAGCTTTGTTTGTTTGAACTGAACTGCATATACTCATCTTCAAAGGCCTATCAAATACTGGGATGGAACTCTGCCTACTCCCTCATCTATAGCTTTACTTAGCAACATTTTATTATATGTACTTATAATGTAAATCAATTTTTATTGATTTAAGGGAAAAAAGGGGCCTGCATATAACAAGAATCTTTAATCTTTTGGAATTTTCCTTTATATCCCTAACTTAATATCATCATCCCAAGTTAATAGAATACACTTTCTCTTTTTTAGCAAGAGATTTTAACTTCCAGAGCTTGTCCTTTTGTTTGTCCTTTTTCATTCATTTAGCAAATAAAAACAGAAGTACATTATTGTAAGGACTTTATGCCATGCTAAAAGAAGTTTTATCATTATTATTTGAAAGTAAACTGTGGTAAGTTAAAGATGTGTACATAAGTCATAACACAATGATAAAAATGAAAGTACCAAAGAGGTATGCATAATGAGCCAAAATAGGACATAAGATGGAAACATAACCTTTATCAATTAATACAAAAGCAAGATCAGGAAATAAAAAGTCAGAAATTACAAGTATCAGGAATTAGAGACAGGACATCACTGCATTTCCTACAGACATTAAAAGGATATTAAGGGAATGTTATTAATAATTTTATGCCTACAAATTCAACAACTTAGGTGAAATACACAAATTCCTTGAAATAAATTCACCACTGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCACATGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATTGTTTGAACCCAGGAGAAAGAAATAAAGGATATTCAGATAGTAAGAGAGAAGTCACATTGTCTCTGTTTGCAGGTGACATGGTTGTAGATTTAGAAAACCCCATCATCTCAGCCCAGAAACTCCTTAAGCTAATAAGTAACTTCAGCAAAATTTCAGGATTCAAAATCAGTGTGCAAAATTCACAAGCATTCCTATACATCAATAATAGACAAGCAAAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTGCAAAGAGAGTAAAATACCTAAGAATACAACTTTCAAGAATGTGAAGGACCACTTCAAGAAGAACGATAAAACCACTGCTCAAGGAAATAAGACAGGACACAAACAAATAGAAAAAAAATTCCATGCTTATGTACCACCATAGAATCAATATCATGAAAATGGCAGTACTTCCCAAAGTAATTTATAGATTCAGTGCTATTCCCATCAAGCTACCATTGACTTTCTTCACAGAATTAGAAAAAACTTTGACAAACCTGAGAAACACAAGCAATGGGGAAAGGATTCCCTATTTAATAAGTGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTACCTTACACCTTATACAAAAATTAATTCGAGATGGATTAAAGACTTAAATGTTAGACCTCAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGACTAAAACACCAAAAGCAATGGCATGCAACAAAAGCCAAAATTGACAAATGAGATCTAATTAAACTAAAGAGCTTCTGCACACCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATTCATCTGACAAAGGGCTAATATCCAGAATCTACAAAGAACTCGTTAAAAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATCTATGCAGCCAACAGACACATAAAAAAACGCTCATCATCACTGGTCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAGTCAGGAAACAACCAATGCTAGAAAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTGGTTCAACCATTGTGGAAGACAGTGTGGCGATTCCTCAAGGATCTGGAACTAGAATTACCATTTGACCCAGCCATCCCATTACTGGGTATATATCCAAAGGATTATAAATCATGCTACTATAAAGACACATGCGCACATATGTTTATTGCTGCACTATTCACAATAGTAAAGACTTGGAACAAACCCAAATGTCTATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGACATAAAAAGGATGAGTTCATGTCCTCTGCAGGGACATGGAATGAAGCTAGAAACCATCATTCTCAGCAAATGATCACAAGGACAGAAAACCAAACACCACATGTTCTCACTCATAGGTGGGAATTGAACATTGAAATCACCTGGACACAGGAAGGGAACCATCACACACCAGGGCCTGTCCCAGGCTGGGGGGCTGAGGGAGGGATAGCATTAGGAGAAATACCCAGTGTAAATGATGAGTTGATGGGTGCAGCAAACCAACATGGCACATATATACCTATGTATCAAACCTGCACTTTGTGCACATGTACCCTAGAACTTAAACTATAATAATAATAATTAATAATAAAAAAGAAAAAACTACTTTTAAGTTTCATATGGAACCAAAATAGAGCCTGTATAGCCAAGACAATCCTAAGCAAAAAGAACAAAGCTGGAGGCATCAGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGATTATAGACCAATGGAACAGAACAGAGACCTCAAAAATAATGCCACATATCTACAACCATCTGATGTTTGACAAACCTGACAAAAGACGAGCAATGGGGAAAGGATTTCCTTTTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATACAGAAAACAAACTGGACCCCTTCCTTACACCTTATACAAAAGTTAACTCAATATGGGTTAAAAACTTCAATGTAAAACCCAGAACCTAGGCAATACCATTCAGGACATAGGCACTGGCAAAGACTTCAGACTAAAACACCAAAAGCAAGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAAGAGTTGCTGCACAGCAAAAGAAACTATCATCAGAGTGAACAGACAACCTATAGAATGGGGAGAAATTTTTGCAATCTACCCATCTGACAAAAGGCTAATATCCAGAATCTACAAGGAACTTAAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACCTTTATGTGGCCAACAAACTTATGAAAAAAAGCTCATCATCACTGGTCATTAAGGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGATGGAGTCTTTCTTTGTCGCCAGGCTGGAGTACAGTGGCACAATCTGGGCTCACTGCAACATCCGCCTCCTGGGTTCAAGCCATTCTCCTACCTCAGCCTCCCAAGTAGCTGAGACTACAGGCGCATGCCACCACACCCAGCTAATTTTTATATTTTTAGTTGAGACGGGGTTTCACCATGTTGGTCAGGGGGGTTTCACCATGTTGGTCAGGATGGTCTCGATCTCTTGACCTCATGATCTGTCTGCCTCAGCCTCCCAAATTGCTAGGATTACAGGCGTGAGCCATCACACCTGGCCCAATAAAGTGATTTTTAAAAAGCCAACAAAGACATTATAGGTGAAAACCCTTCACAAATTTGCTTCATGCACATAATCACAAACACTAAACTTCTTACAAGATATTAGTAAATTGAATCCAACAAAATGTAAAATGGATAATGCATCATCCCCACAATACTAGTGTAGGCTAACATTTTAAAAATTGATCCGTGTTGGCCAGGCGTGGTGGTTCACGCCTGTAATCCCAAAACTTTGGGAGGTCAAGGCAGGCAGATCAGAGGTCAGGATTTCGAGACCAGTCTGACCAACATGGTGAAACCGTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCACGTGCCTGTAATTCCAGCTACACAAGAGGCGGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAAAGGTTGCAGTGAGCCAAGATTGCACCACTGCAGTCCAGCCTGGACAACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAATTGATCAATGTTATTTACCATAATAGACTCATAAAGAAAAATTGTAACATTATCTCAATACAGAAAAATCATTAGAAAAATTTAACAGCTAGTCGTGATTAAAAAAAAAAAAAAACTTTAGCAAACTAAGATTAGAAGTGAACCTCTACAGCCAGATGAAAGGGCATCTATGAAAAAGATACAACTAATATGACAGTAAAAGACTATATGCTTTCCTTTTATGATCAGGAATGAGGCATTAAGCTCCACTTCTATTCAATGTTGCACCACATATCCTAGCTAGTAAAAATATTAAGAAAAATAAATACAAGTCATGCAGATTGGAAAGAAAGAAGGAAGCCTGCCTTTATTTGCAGAGGATACTATCATCTATTTACAAAATCTTAAGGAATCTACAAAAAAGATTTAGAGCTAGTAAGAGTTTGTTTAGCAAGATTGTGGGATATAAGGTAAATATATAAAAACTTAATTGTAGCTCTATATGTGAAAACAAATTATTGAAAATTGAAATTTAAAAATATTATGTGCATTACCTTTCTACACACTGAAAACTATAAAATGTTGACTAGTGAAATTGAAGAAGACCTAAATATATGGAAAGATGCATTGAAAGATGTACTGTGCTTGTGGATCAAGAGACCTAGTGTTAAAATGTTAGTTCTAAGATGGCCAATTAGAAGCAGCTGCAGTCTGTGGCACTATGGAGAGGAATGAAAGGGCAAGTGAATTCAGCACCTTCAACTGAAATATCCATGTTCTCGCATTGGAAATGACAAGGCAAAGAACTCACAGAGAACAAAGAAAAGCAGTGTGGGGTAATGGCCCACCTGGGAGTGGCATGGAGCCAAAGGAACCCCCATCCCCAGCCAAGGGAAGCAGTGAGTGATTGTTCGACCCCACCTGGGAAACCACATTTCTCCCACACATCTTTGCAACCCATAGATGAGGATATCCCCTCATGAGCCCACACCACCAGGGCCTTGGGTCCGAAACACAGAGCTGTGTGGAGTCTGCACAGCAGCTGCTCAGGTACACACACACAGGCCCAGGAGTTTTACATACTCCAGTCCTGTGCTACCCAGCAAGGAAAGAGTCCACCTGTATATATCCCTAAAGAAGGGGGCTGAATTCAGGGAGCCAAGCAGCGTCATTCTGCAGGGCCCACTTCCATGGCACTTCACAAGGTAAGACCCACTGGCCTGGAATTCTGGCCAGCCCACAGCAACAGGCTGGAGTCTGCCTGAGGCAGGAACAAGTTTCTTGGGGTAGGGGTGGCGGCCGTCTCTGCGATTTGGTAGACTTAGCCATTCCAGCCTGCTGGCTTGGGAGAATACAAACAGTCCAGATGAGGAAGGGTCCCCCCTCAATGCAGCACACTTGCTCTACAAAAATGAGCCAGACTGATTCTTTAAGTGGTTCCGTGATCCCATTCCTCCTGACTGGATGAGACCTCCCAACAGGAGTCTCCAGATACCTCCTACAGGCACATTTGGGCTGACAACCAGTCATTATCCCGCTGGGACAGAGCTTCCAGAGGAAGGAGCAGGCTGCCATCTCTGCTGTTTCACAGCCTTCACTGGTGATGCCTCCAGATACAGGAAAAATCAAGGCAACTAGGGTCTAGAGTGGACCCCCAGCAAACCACAGCAGCCTTGTGGAAGGGTGGCCTGACTGGTTAAAAAAAAAAAAACCACACAGAAAACAATATTTAAAATAAAAGACCCTACAAAAACCCCAAAGGTCAGCAACCTCAAAGATCAAAGATAGATGAGCCCACAAAGATGAGAAAGAATCAATGCAACAACACCAAAAACTGAAAAGCCAGAGTGCCTCTTCTCCTCCAAATGACTGCAACACCTCTACTGCAAGGGCACAGAACTGGGCTGAGGCTGAGATGGCGGAATTGACAGAAGTAGGCTTCAGAAGGTGTGTAATAACGAAATTTGCTGAGCTAAAGGAGCATGTTATAATCCAATGCAAAGAAGCTAAGAATCATGGTAAAACCATTCAGGAGCCGAGAGCCAGAATAGCCAGTTTAGAGAGGAACATAGCCAACCTGATGAAGATGAAAAACACAACACGAGAACTTCACAATGCAATCAGAAGTATCAATAGCAGAATAGACCAAGCAGAGGAAAGAATCTCAGAGCTTGAAGACTGTCTTTCTGAAACAAGACAGGCAGACAAGAATAGAGAAAAAAGAATGGAAAGGAATGAATAAAACCTCCGAGAAATATGGGGCTATGTAAAGAGACCTAACCTCTGACTGACTAGGATATCTGGAAGAGATCCATTCTGGGGAGAATGGAACCAACTTGGAAAACATATTTCAGGATATCATCCAGGAGAACTTCCCCAACCTAGCAAGACAGGCCAACATTCAAATTCAAGAAATGTAGAGAACCTTAGTAAGATACTTAACAAGAAGATCAACCCCAAGATGCATAGCAAGGCAGGCCAACATTCAAATTCAGGAAATGCAGAGAACCCTAGTAAGATACTCTACAAGAAGATCAACCCTGAGACACATAATCATCAGATTCTCCAAGGTTGAAATAAAAGAAAAAGTATTAAGGGCAGTCACAGAGAAAGGACACGTCACTCACAAAGGGAAGCCCATCAGACTAACAATAGATCTCTCAGCAGAAACCCTACAAGCCATAAGAGATTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATATTTAACCCAGAAGTTCATATCTGGCCAACCAAGCTTCATAAGCAAAGAAGAAATAAGATCCTTTTCAGACAAGTAAATGCTGAGGGAATTGGTCATCACCAGGCCTGCCTTACAAAAGCTCCTGCAGGAAGCACTAAATATAGAAATGAAAACCTGTTACCAGCCACTACAAAAACACACTGAGGAACACAGACCAGTGACACTATGGAGAAACCACATAAACAAGTATGCAAAATAACCAGCTAACATCATGGTAACAGGATGAAAGTCACACATAACAGTACTAATCTTAAAAGGAAGTGGGCTAAATGCTCCAATTAAAAGACACAGAGTGGCAAGCTGTATGAAGAACTAAGGCCCATTGGTATGCTGTCCTCGAGAGATGCACCTCACGTGCAAAGACACACATAGGCTCAAAATAAAGGCAGGGAAGAAAATTTACCAAGCAAATGGAAAACAGAAAAATGCAGGGGTTGCAATCCTAGTTTCTGACAAAACAGACTTCAAACCAACAAAGATTAAAAAAAGACAAAGAAGGACATTACATAATGGTAAAGGGCTCAATTCAACATGAAGAGCTAACTATCTCAAATAGATATGCACCCAGATTCATAAAGCAAGTTCTTAGAAACCTACAAAGAGACTTAGACTCCCACACAATAGTGGGAGACTTTAACCATTGACAATATTAGACCATCGAGGTAGAAAATTAACAAAGATATTCAGGACCTGAACTCAGCTAAGGATCAGGTGGATGTGATAGATATCTATACGACTCTCCACCCAAAAACAACAGAATATACATTCTTCTCATTGCCACATGGTACATACTATAAAATTGATCACATAATTAATTGAAATTAAAACTCTCCTCAGCAAATGCAAAAGAACTGAAATCATAACAAACGGTCTCTTAGACCACAATGCAATCAAATTAGAACTCAAGATTAAGAAATTAACTCAAAACACCACAACTACATGGGAATTGAACAACTTGCTCCTGAATGACTCTTGGGTAAATAATGAAATTAAGGTGGAAATCAAGAAATTCTTTGAAACTAATGAGAATGAAGAGACAATGTAGCAGAATCTCTGGGATGCAGCTAAAGCAGTGTTAAGCAGGAAATTTATAGTACTAAATGCCCACATCAAAAAGCTGGAAAGATCTCAAGTTAACAACCTAACATGCCAACTAAAAGAATTAGAGAACCAAGAGCAAACAAACTGCAAAGCTAGCAGAAGACAAGAAATTACCGAGATCAGAGCTGAACTTTAAAAAGCCTTTAGAAAAAAATCAAAGAATCCAAGAACTGGTTTTTTTTTTTTATAACAAAATAGACCACTAGCTAGAATAATAAAGAAGAAAAGAGAGAAGAATCTAATAAACACAATCAGAAATGATAAGGGAGATATCACAACTCATGCCACAGAAAAACACAAACAACTATCACAGAATACTATAAACACGTCTATACACATAAACCAGGCCATCTAGAAGAAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTGAAGCAGGAAGAAATTGAATCCCTGAATAGACCAATAATGAATTCTGAAATTGAGGCTGTAATAAGTAGCCTACCACCAAAAGAGGCCCAGGACCAGATGGATTCACAGCTGAATTCTACCAGAGGTACAAAGAAGAGCTGGTACCGTTTCTACTGCAACTATTCCAAAAAATTGAAAAGGAAAGACTCTTCCCTAACTTATTCTATAAAGCCAACATCATGCTGACACCAAAACTTGGCAGAGACAACAAAAAAAGAAAATTTTAGGCCAATATCCTTGATGAACATCCATGTAAAAATTCTCAATAAAATACTGGCAAACCAAATCCCACAGCACATCAAAAAGCTTATCCACCGTGATCAAGTTGGCTTCATCCCTGGGATGCAAGGTTTGTTCAACATATGCGAATCAATAGATGTGTTTCATTGCATAAACAGAATGAAAGACAAAAAACACATGATTATCTCAATAGATGCACAGAAGGCCTTCTGTAAAATTCAGCATCCTATTATGTTAAAAACTCTCAATAAACTAGGTATTGAAGGAACATATCTCAGGATAGAGAGCCATATATGACAAACCCATAGTGATGTAATAATGAATGGGCAAAAGTGGGAAGTATTCCCCTTGAAAACTGGCACAAGACAAGGATGCCCTCCCTCACCACTCCTATTCAACATAGTATTGAAAGTTCTAGCCAGGGCAATTGGGAAAGAGAAAGAGATAAATGGTACTCAAATAGGAAGAGAGGAAGTCAAATTGTTTTTGTTTGCAGATGACATGATCCTATATCTAGAAAACTCCATAATCTCAACCCAAAAGCTAGGAATACCTCTGCAGGATTTTTTTGTAAGTATTGGCAATTTGAGTCTATTTTTTTTTCTTTTTGCAAAAATGCAAAGGGTCTACTGTAGACCGTTTTATGAAAACGAGAAAAAAATGGAAGGTCTTACACTTTGTGATTTCAAACATTATGAAGATATTGTCATCAAAATACTGTGGCATTGGCATAAAGCCAGATACAGAGATCAATGAAATGGAAATCAATGGAATGAAGATCAGTGGAATGGAATCCATTAATCAATGGATTGGAATGGATCAATGGAATGGAAGGAATCAGTGGAGATCAGTGGAATGGAATAAGAATCCAGATAGACCCCGAAATATATAATCAATTGATTTTCACCAATAGGCTAAGGTAATTAAATAAGAAAAGGAAAATCTCTTTAACAAATGGTACTAGAGTAATTAAATAGCCAAAAGCCAAAAAAGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCCTGCAACTGTGTCTCCAAAGATATACAAAAATTATCCCCAAAGTAATCATAAACATTAATAAAACTTCACTAAAATTTTTTAGTGACTTTGTGTTTGACAGTGATTTCTTAAATAGGACACCAAAAATGAACTATAAAAAGAAAAAGTGATACATTGGACTTTACCAAAATTTTAACCTTCTCTTTAAAAGACACTTATAAAAATGAAAAGCAAGCCACAGAATAGGAGAAAATAATTTCAAGACATATACTTAACAAAGGAACCTACAGCTAGATTTTTTCAAAAAACTCAATAAACATCTCAATTATAAAAATGCAAAAAAAAATTGTATAGATATTTTATTAAGACTTGTGGATGGGAAAGAAGCACATAAAAATGTAGGTGTCATTAGGAATATCAGAACTGCAATGAGAATATCAATATATAAAGATCAGTTGTATTTCTGTATAATAGCAATGAATCCTAGTATATGGCACTCACAGTACCCAAAATGAAATTAAGAACTTAATTCCACTTATAATAGCATTGAAAAGAATGAAGTAGATGGGAATAAATTTAACAAAAGGAGATCAAGACTTGTGCACTGAGAGCTACACAACATCATTGAAAGAAATTAAAGACTACTTAAGTAAATGGAAAACCATCCTTTGTTTAGGGGGAAAGGGAGAATGACTGCATGGATCCAGAGTATTTTGGGGGATTGATAAAAATATTCTGGAATTAGTGGTTATGCTTGTACAACCTTGTGAATATATTAAAACCCACTAAATCATACACTCTAGAGAGGTGACTTTGATGGTATATTAATTATATATCAGTAAAAACATTTTTTAAATCACAATGAGATAGCCCTGCACACTAGCTTGATTGGTTTATAGCTTAAATTAAAAAGCCAAATGGTACCAAGTGTTGATATGGATCAGGAACAACTTGAATTTTCAGATATTGCTGATAGTTTAGCTTTTTCTTATAAGGTTAAACATATACTTAACATATTTGCCCACTATATCACTCGTGAATATTGACCCAAGAGAAACGAAAGCATATGCCATACAAATACTTATTTGTGAATGTTCAAAGCAACTTAATTTTTAAGAGTCAAAAACTAGAAACAGCTCAACATTCAAGAGGTGAAATGATAAATTTTTGTTATATCCATAAAATTGGAGTGCTACTCAGAAATTCAAACAATGACTATTTGATTTATGCAACTACATGGATACACCCAGTGTTCTGCTGGCAAATGTTTAAAAACTGGCTCTCCAAAAAAAAAAAAAAAGAGGAGGCAACTTTGATCTATATAGCATTTTCTCATTTCCATGGTACAAATGCTCCTGCCATGACTGATTTCAAGTTACCAATATAAGGTCAATGAATGTGGAGTTAAGAAGAGATGCCTAGTAGCAAACTATTTTATAGTATTTCTTCTATCCATGTCTTCTATCCGGTATTTCTTCTGTCTTATATCCAATAGACATAATCTTGAACACAGATTTCTTGTTTTGTTTTGTAGAGACAGGGTCTCACTCTGTCACCTAGGCAGGAGTACAGTGGTACATTCCTAGCTCACTGCAACCTCCAACTCCTGAGCTCAATAGATCCTCCCACCTCAGCCTCCTGAGTAGCTAGGAGTATAGGCACATGCCCTCACACAAGGCTAATTTTTTTATTTTCTGTAGAGATGATAGGTACTCACCATGTTGGCCAGGCTGTTTTTGAACCCCTGTGGTCAAGCGATCCTCTTGCCTCAGCCTCTCAAAGTGCTGGGATTACAGGTGGCGCCACCTGGCCCAGCTTAAATAAACATCATTCTTTATTCAGGTTGCTATTACAAATTTTGATAGACTGGGTGGCTTAAACATTTATTTCTTACAGTTCTGAAGGCTGAGAAATCTAAGATCGGGTGCCAGCATGGTTGGGTTCTGATGACGGCCGCCTTCCACATTGCAGGCAGCCAACTTTTCCTTGTATCCTCATATGGTGGAAAGAGTGCAGGCTAGCTCTCTAACCTCTTATTATAAGAGCATTAATCCCATTTATGAGGGTGAAGCCTCATAACCTTCACCCTCATAACCTATTTCCTTCCAGAGGTCCCACCTCCAAATACCATTAGTGATTAGCTTTCAACAAGACGTCTGAGGGGACACAACATAATAAAAATTGTAAAATAATATGAAAAGATGAGGTTTGAATATTTGTTAACTGTTTTAAAATAACATTTAATTTATAACTTTTAAAATAATGGCTATTTAACAACGAATTTAAATAATTTATAAAATTTTAAGACTTGGCTCTCACTAGCCTTTGTGAGCTGGTTCAATCACATTACTGGATAAATCTCAAAATAATTATACATAACAAAAAAAAGAAGGTTAAAAGTTTAATATTTAAAAGTTTAATGTTTATAAATACTATATATATAAATTTCATTATATACATAATTCTAGAAAATTCAAATTAGTATGTTGTTGGGAACAGGCCCCCAAATCTGGCCATAAACTGGCCATAAACAAAATCTCTGCCAGCACTGTGACATGTACGTGATGGCCATGATGCCCACGCTGAAGGTTGTGGGTTTACCAGAATGAGGGCAATGAACACCTGGCCCACCCAGGACAGAAAATGGCTTAAGGCGTTCCTAAACCACAAACAATAGTATGAGCAATCTGTGCCTTAAAGACATGTTCCTGCTGCAGATAACTAGTCAAAGCCTATCCCTTTGTTTTGGCCCATCCCTTTGTTTCCCATAAGGAATACTTTTAGTTAATCTATAATCTATAGAAACAATGCTTATCACTGGCTTGCTGTCAGTAAATATGTGGGTAAAACTCTGTTCGAGGCTCTCAGCTCTGAAGGCTGTCAGCCCCCTGATTTCCTACTCCACACTTTATATTTCTGTGTGTGTGTCTTTAATTCCTCTAGCCTTGCTGGATTAGGATCTCCACAACCAAGCTGGTCTTAGCAGTGTGTATTAACATACTAGCAATTGTCTGTTAATTAGTTGGTGGGGGTAGGACTGATGGATTACAAATGTAAACAAACTTTTGAGAGTGAAAATATTGTCAATAATTTTTAGTTATATTTTTATTTTACCCTATACAAGTTTAAATACTATTTAGACCCTAAAATTCCATTTAATTTACTGAACATCTATGTTAGCTTGGAAGACTATATGTAAGATTTTTCAACATCCATGCACATAAACACACAAAATCTATGGCTAAACTGATGATTGTTATCTAGTTTGTGCTTCAGTTAATAGCTGGCTAATTTAGTATCAAAAATATAACAAACTAATGGGCTTGAACCCAGGTTTGTTTCACCTCAAGCATTTGATTGATTGGTCGCGTTAATGCGCAGAAATTAGTGCGACTGCCTCAGTAATTGTTTTATGTTCTAATTTATATTAATAGCCACCATACCAAGTGAAACGAACAATTACTATTGAAATATTTTTGTGCCATTTTGCATTAGTAGTTATGTTTAAATAAATTCTATATAAAAATTCATAAATGTGTTGTTTCTTGTTACGGCTCATTTAACATGGTTAGTGTGCTAAATTGTGGAAATCAAAACTCAATACTACTAGCTTTACAATGTTTATAGATCAAATGTTAACGTAAACCCACAGAGCCCATTTAACTCTACTCTTGATGTATGTTTGGTTAAAATTTTTGAGAAAATATTAATAGAAATTATAACCCCAACATGCCTACATACATACATACTTTTAACTATGGCAACATGATATTGGCCTAAATGAATGTATCACAGAAAACAATGTACAAATAATCCACAATTTTTTAAACTCTCAAGGAATGTAATAGCATGAAGACATGTCAGTAAATATTATTTCAATAAATTTCACGGAAGTAAATATACATTCAATGTAGTTTTACTAGATGAAAGAAATGTTACAGATTATCATTTTACTTGCTGAACATACTTAATGATAAACTTACCTTCGTCTTTCCCAGAGCTAAGCTTCACTATAAGTATTCCTAATGTATACCATGCTGTAGATAGTATAATCTGTTCATATTTTAAAAGACAAATACTGTCTTAGACAAATTGTCACAACAAAATACTGTAGACTAGGTAGCTTAAATAACAGACATTTCTCACAGTTCTGAAAGCTGGGAAGTCCAAGATCAAAGGGCTGGCAGATCTGGTGGTATCTGATAAAAGTTTACAGATAGCCATCTTTTCCTTGTATCTTCACACTGTGGAGGGAAGAAAGAGAAAGCAAGCCCTCTCATATCTTTTTACAAGGGCACTAATCCCACCACGAGGGGCTGCTCCATTCTCATGAGCTTATTACTTCTTAAAGGCCTTGCCTCCTAATATTATCACATTGGGGCTTAAGATTTCAACATATGCATCTTGTGGGGACACACACATTCAGTCCACAGCAAATATTAACTAAATCGCTTTTTAAAAACTGTACACATTTTGAGTAGAATTTATCATTCTCCACTGTACTAGAGTTCTTCCAAGAAACAGAACCAGATTATAATATGAATATATATAAAAATAAAAAGCATACGGAAATATATATATAAGTATATATATATAATTCAGTCTCAAATACTAATCTTTTCTGTAAACACCCTCACAGACACACCCAGAAATAACCTTTAATCTGAGGACCCTGTTAGAGTAAAACAGCTTGCTACCTGAATGGAACTCTGGGACAACAGGCATCATTAGTCAAATGGATATATGGTCTCTCTATAACATGAGCTTTTTTTTTTTTTTTCAGAATATCTGAAAGAGAGGAGTAAGGAGGAGTGTGGATAAGAAAAAGCTTGCAGTTGGATGATGTAATAAGTAACACTGAGCAAATATTTATTGCCCACCTACCATGGTCTATATCATGCGAGGCTCTGGAGATAGGAAAAATGAATAGTACATAGTCTATATTCAATGAGCTCAATATAAATAACAAAAACTATCTAACATACAGTGATGGCTAGCAAAACTTCACAGAAGGAAATTAGTAGTCTTTCTTAACCTTTTCCCAATGAAGTTTTTATTTTACTGTGACAAAATATACATGACACAAAATTTACTGTGTTAACCATTTTTAAGTATACAGTTCAGTAGTGCAAAGTACATTGACATTGCTGTACAGCTAATTTCCAGAACTCTTCATCTTGAAAAACTGAAACTCTGTCCTATTAAACAACAGCTCCCATTCACCCCTTCCCCAGCCCTTGGCAACCACCATCTACTTTCTGTCTCTGTGAATCCTGGTATTTTGGGTACCTCATTTAAGTGGAATCATAACAGTATTTGTCTTTGTGTCCCTGGCTTATCTCACTGTGTATAACGTCCTCAAGGAACATCCATGCTGTAGCATATATCAATTTTTTTTTCTTTTTTAAGGTGAATAATATTCCATTGTATGTATATGCCACATTTTGTTTATCCATTCATCCATTGATGGATGTGGGTTGTTTCCACCTTCCTAACTTTTTATAACAGTGTAATCTCTTAAGATAACAAGCATTCTATTTTTTTAATTGAAAAAATCTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGCAGATCACTTGAGCCTAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAATACAAAATTTAGCCAGGTATGGTGGTGGGTGCCTGTAGTTCCAGCTACTCGGGAGACTGAGGTAGGAGGATCACCTGAGCCTGGGAAGTCTAAGCTGCAGTGAGCCATGATCATGCCACTGTACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAACAAAAACAAAAAACCTGAGGTTAGTTTTTCATAGAAAGCAAGTAATAGAAGATCCTCTTTGAGAAGGGAAAACATAAAATAGATTCAAAAAATGATTTATGTTTTAAAAGAATCATTCAATTAAATCTTTTAGATCTGAAAGTCCTTAGTTTGCTCATGTACCATTTTATAATCCTTTTTCTGTACTGATAAAAAAAAAAATTGAATGCTACAGAAATACTGTGATGTACCCATGGAGCTGAACAAAGGTCTTGTTAAGATTAAACTACAATCTGCTCTAACTTTTATCACAAATTACTCATTGTCTGTGTTGTACTTCCTCTTAAGCATAGATAGTAAGGGCTCTCTTATTGTTAAATTGTTTCGCTCTGAAACTTGTCTTTATCCTTCTGAAATATAAATTTCTAATTATGTATGTTTGTGAAATAGGTTTTAGTTATTTCAATTAATTGCGTAGAGTTGTAAATTATGGCAAGTGTAGGAGTTAGTGATAATCTTAAATTGTATCTATTGTTAATCATTGCATATGAAGTTGAAATTACAGTGACCTCTCTGCATTTCTTCTCCTTTTCTTAAAATTGTAAACTGAGTCTTTTTTCACACATCATAAAAACCTTGTGCAACTGCTAGTGTTTGAAATAAATTGCAGTTACAGTGCTGTCTCCCTGTTTCAGGCACTGTGATAAGCTAGAATCAAATGAAAGTTCTTCTGACATTTTCAGAACCTAAAATCCAATGTTGGTTTAACTTCAATAGTCTGCAGATAATGGATTACTGGTATTGCACTCCTATTTGAGAAACAAGCTATTATTTTTACCAGTGGGATAGTGATATTTGTTAGTAGTACAAGTAATTCCATCATTAAATAGAGAAGGGAGGAAAATTCCTACAAGTGGCCATTTTTTAAGGTTCATACAATAAACATATTAAGATTCTAGAGTGGAAATTAAAACATCCACAATTGTACTAGAGTGTTTTTTTGTGCAAGTCACTTAACCTTTCTCTACATCAGTTTCCAGATATTTGAAATGGTAATAATTATACCCACTTCCGAGGGTTGTCGTAAGATATAAAAGTCTTAATGTAGATAAAATGCGTATAACAGTGCCTGTACATATAAGTGCTATACAAGTGTTTGCTATCGTTATCCTTCTTTTTCTCATTTTCACATGGTTCTTCATTGACTCACGTTTAGAATATTACCGTACATTTTTAACTCACCTCCCTGATTGCAGTTTCGTCTTCCTAATGTTGTTCTTCCCATTTCTACTAGGGTAATCCTTAAAAAAAATCCAAATTGTTGTGTCACTTCCTCGCTTAAAGGTTGATTTAGTTTTACCATTGTTTTCCAGATAAAATTTAAATTCCTTAGTATAAACCACCACAAATTTTATGATGTCATCCTTAAGTCATCAGCCCATTTCTGTCATGTCTTATTAATGCTTCTTCCTTTCCCTGCTGTCTTTACCTGACTATTATAGATACTCAGGAAAAGACTATTCATTTACCTTCTGAGACTCATTTCAAGCATGATCTCCACCAGAAAGCCTTTCCTAACTCTTGCCATTCTACGCAGTTTGAATTTGATATACTCTACCTTCGTGTTCACAATCACAGTGCTTATCGCTATTAGGGAGCTCAATTTATTGTCCATAGCCATCTCTTTTATTGTTGATTTCCCTTTCTATCATAAGCTTTTGTAGACAAGAATTGTGTTATGACTTCCTATCTTCAGCAGTTAACAAATGATTGGCAAATAGCAGCTATTTACTCATACTTGCTGCATAATCACTTAATTGAGATTTGAGAGAGAGTGAGTTAACAAATGAACACCCTGGTTACAGCCGGTTCTGCTTTTGTGACATCTTTCATGAAATGCATGGGATGGTGAAAAGAGGTTACATTTAGGGTTAGACCTGGATTCAACTTCTCTATCATTTAGTTTAAAAAAAAAAAAAAAAAACTAAAAAACTTTAAGATTAAACTTACTGTAAGCCTTAATGTCTCCATGATTATAAATTTAATTCCCAATACCTAATTATCTTACATTGAATCTCAAATGGTTTAATATGTATAAATCATTATAGAAATATTAGATCTATTAAAGACAGTATTGGTGCTGATATGGACTCTAGAGCCAAGTTACCTGGGGGTTTACATCCTGGATCTGCCATTTGCCAGCTCTGTGATTTTTGAACATGCTATTCTCTTTGTGTCTACATTTTCTCTTCTGTAAAATGGAAATTATAATATTAAGTTGGTGCAAAAGTAATTGCAGTTTTGGACCATGAATTTTAAGTTATTATATTAATAACTAGGCTCAAAGACATCTTTATTAATCAAAATAGGAACCATTACAATCAACACATTTTGCCAATAAGAAATACGTTGGTTTATTCCTGTAACATAATCTGTCCTTTGGGATTCGACAAACTCTTGAAAAGCATTTTCTGCATCCTGTTGATTGTGGAAGTGTTTTCCCTGCAAAATGTTGTTGAGATGCTTAAAGAAATGGTAGTCAGCTGGGGAGAGGTCAGGTGAATATGGTGAATGAGGCAAAACTTCGTAGCCCAATTCATTCAACTTTTGAAGTATTGGTTGTTCAACTTGTGGTGGGGCACTGTCGTAGAGAAGAATTGGGCCCTTTCTGTTGACGAATGCTGGCTGCAGGTATTGCAGTTTTTGATGCATCTCAGCTATTTGCTGAGCATACTTCTCAGATGTAATAGTTAAGCCAGGGTTCAGAACGCTGTAGTGGATCAGACCAGCCGCCGAGCACCAAACAGCAACCATGACCTTTTTTTGGTGGAAGTTGGCTTTGGGAGGTGTTTTGAAGCTTCTTCTTGATCCAGCCACTGAGCTCATCATCGCTGGTTGTCATATAAAATCCACTTTTGATTGTATATCACAATCCGACTGACAAATAGTTCATCGTTGTTACGTAGAATAAGAGAAGACAACACTTCAAAACAACGATTTTTGGTTAGCTCATGAGGCATCCTCTTATCAAGCTTTTATCACCTCTCCAATTTGATTCAAATGCTGAATGACTATAGAATGGCCGATGTTGAGTTCTTCTGCAGCTTCTCCTGTAGTTGTAAGAGGATCAGCTTGGATGATTGCTCTCAGCTGGTTGTTGTCAACTTCCGATAACTGGCCACTATGTCCTCATCTTCAAGGATCTCCTTTGCAAAACTTCTTGAACCACCACTGCACTGTATGTTCGTTAGTAGTTCCTAGGCCAAATGTGTTGTTGATGTTGCCAGTTGTCTCCACTGATTTACGACCCATTGTGAACTCAAATAAGAAAATCACTCGAATTTGCTTTTTGCCTAACATCATTTCCATGGTCTAAAATAACCATAAACAGCAAGCAATAAGTCATCAGCAAAAAAAAAATTGAGAAATGCTCATTAAAATGATGTATAACATAACTACATTTATTTAAGAATGTATTTCAATATCAAACAGCAAATTCTAACAATGTAAAAACTGCAGTTACTTTTGCACTTACCTAATAGTACACTTCTGAGGATTATTTTGAGGACTATATGAGGTGGTGTGTATCAAGCACTCACCATAGTTACTAACACATAGTAAGCACCCAATAAATATTAGCTTAAAAAAATTTCCTGCGACTCTTTTTACCTTTGTGCAAATCTAAGACAACTTTCAAGGCATAGCTTAATAGCTACCTCTTTTTTAAAGACTTCCTTGATTGAATTGTTTTTTCCCTCTAAACTCCAATAACATGATATATAATTTATTCATAAAGCACCACAAGGAACTTCAGCTTTGTATCTCCTTTATTGGTTTTTAAATTTCTTTAAATACTATATTTATTTTATTCATCTCATGTATCACTATCATTATCATTTCTATTATGTCACCTATTATGTTTTAATTCTCTACATATTTAACACTATGAAATATTTTTTATATAGGTAAATATTATCTATCTCGCTATAAAATGTAAGCTCCATAATAGCAAGGACCTTATGTTAATAGTATCTGCACATTGTAGATAGTAAATAATTGCTGAATGGATGAATAATGACTTAAACATCTATTGAATTAATGTATTACACTTGGCAATAATATTGGTAACTCTCTTAACCATCTATAGATGAATAATAAATTGCCCTAAGTCTTAGTGGCATAAAACAATAGAAATTTCTTATATCACAGTTTTTGTGGGTCTAGAATCCAAGTGTGGTTTAGCTGAGTATTCTGGCTCAGGGTTTCTCACAAGGCTCAGCTTCCAAGGTTACTCATGGGCTAGCTGTTAGTCAACTGTGAGTGAGAGGAGTGTCAAATAATTTAAGAGTCATGTTTAAAAACTGCCACAGTCTGCCCTCTAGGCAGAAATTATTTACATTTCCTCACATGCAAAATACAACCGTCTCCTCCCAGACTCCTCCACATGTTTCATTTCATTACAGGATCAGGCTAAGGCTAAAGGGATAAAATTGTCATTTAAATCAGGGGAAAGTATGGATGAGGCTTTTTGGGTTTGATTCCTCAAAAATAACCGCATAAATATTGTTCCCATCTAAAGACCAGTGAACTACAGTGACAAGTTGCCCGTTCCCTTTAAAACCAATATAAAATGGTAGGACAGGCATAGGGTAACTGCAAAGACATTCCTATTCAAAAAGGGAAGATGGAAAGGCTAACGTCCTTAGCAATTCTGAAATCCAAGGAAGTTCATGTTTCCCGTTCCTTTATTAGAATTTTGTATTGTTTCCTAGGAATGATTAATTGCTCTTGGCTTTACCTTCTGAGCGCTGGATTCTAACCTCTGAATTATCCATACATTTCAATAAGATGTAGCTCATGTTTGCAGCTGAGTGGTTTTTTCGGTCTGTTTCCTGCCCATAGAAGCCCTGGAGCCAAGTTCTCTTTGAATTGCATCCTCTCCTAACCCTGTAATCCTAAACTGATAGTTTACACCAGAACAGTTTTTCTGAAACTGGGAGTTTGCTATGAATCTCATTGAGATTCACTCCATTAGACAAAAACCACAAACAAATCTTTTCAAGATAAGCCTTTCTTTCTATCTTAGGCTTCTTTTGCATCAGCTGTGGGACAACACCCTTAAGATTTATTGAAGCCCTATTGTTTAACAGAGGGTTGTCTGAGATTTTTCCTTCCTTTTTTTTTTTTTTTAAGTCCTCAAAGCTCCATAGGCTTCCTCTAGTATTCTTCTAGAAGTCCTTTTAAGTTTTCACTTACATTCTCCTAAAGATCCCTCCAGCTTCAGCCCATCACCTAGTCTCAAGTCCAATGCCATATGATTGAGGATTTTGTTAAGGCAGCACCCTGCCTCTGGTGTATCAAAATCATTATCGGTTGTCTTGCTGCAGAACAAATCTCACCAAAACTTACTGGCTTAAAATAATGTTTTTTAAAAATCATTTATTTTTAGCTTAAAAGTGTGAAATTTACTAGGGCTTGGTAGAGAAAGCTTGTCTCCTTCACACAGCTCACTCATGGTTAGCAAGTTGGTGCCGGCTGAGAGCTGGGGGTCTCTGTTCATCTCCACATGGGCCTCTCCAAAGACAGTTTGGGCTCCACAGCATGGTAACTGGCTTCTAAGATTAAAAGTCTCGAAAGGCAGGAAATATAAGCAACCAATTTTTTATAGCCTAGACTTGGAAACTGGCATAGTATCACTTTCTCTGTATTGGAAGACAGGAGCACAGACCTCAAGTCTCAAGAGGCAAAGTGTCAAAGGATTTGCAGTTGTGTTTCAAAATCACTACACCTGTTTTAGATCAAAGCACAGTTCTGGCACTTATCTATCACATTCCTAAGAAGGCTTACTTTATTCCTGTAAAGTAAAGGGATTCGATGTTTTCTAAGGTCCTTTCTACTCTAAATTTGGTCATCTTACAATTCCCATTTTCTATACATTGTTGATATATTCTAGCCCATAGCAGCTTCTTAACTATGTAATCAGACAGTGTTTGGGGTATAAAATTGACGTTCTCTCCTTATTACCACACTTCAGAAAAATAATATGTTGAGAAGTTTGTGTGATATTTAGAAAATCCAGAAAACCTTCACCAAAAAGGTATATTATAATGAACATGACCTTACAAGAATACTTGTGAAGAGTCTGCATTAATGGTTAATGCCTTTATTGGAAGGTCAAATATTAGATAACTTTTGTAAGGCAGCTGTTCTTAGAGGGGTTTTATTTATTTTTAATTTCATGTACTCCTTTTTATTTTTTTCTGTTTGTTTCATATGTCTCCATGTGGTTGGGGAATAAAGTTTCCATTATACTGCTCTATTTATAGTTTTAAAAAATTCTGTAGGGACCAAAGCTGGTTGTTTTTTAATCTTTACCACTTATAAAATGAATTTGTCAAATTTAATTTGAGTTTCATTTGCAGTAAATATTGTTTAAGAAAACATGGTTGACTATTTTTTATATGCCAGTTTAAGTTCATCTTGTTATTCTTTCAGGAACTTGTACTTTCCTTCCTTTTAGAGAAACATTAATTCATGCTGTCTCTACTGTTCAATTTAATGAGATCAAACTTAATGAATTTCATATGTATATGTGAATTATGCCAAAATTTTTCTCCATCACACTAGTGTTAGTAGTCTTCTATATGTAGTATCATATACACAAACTTAATTTTGACCCTTTTTAAATTGCAGTGTCCTCTCGCATGGCAGAGCAAGTGGGAAGGCCCAGAAGATCCCTTACAATACCTGAGAGGTCTTGTTGCCCGTGCCCTTGCAATACAGGTATGCCTAAATTATTTACTAAGTGGGTTGTCTGACTGTGTGACTATTGTATTATAGAGATAACCATTGTGCTAATCACTAGTGAGAATTACACTATGATTTTGCACATAAAACATCATATATTCATTATTCTGCCATTTGTTATTTTTGTATAGCACTGTTCTATTTTTTTTTTTTTTTTACAAAATGTGCTTTCTGCTTTACTGTGGCTTTTCATCATTTTCGAGAATTTAGAGAAAAATTTACAATTTTAGTACAGTTGGATCACATAGACGGTAACTGACACTGAATCATCACTGTGACTAGTTTGCCTTAGGGAGCTCCCTATGGGGAGCTGCTTTAAAAAAGTTTTCTTCAAATTGATCAAGTTTTTTCAGAATAAACCAGTCAGGTAACTTCAGGAAAACAGAAGAATAATATAGACAGAGAAAGAGTGTATTTTTAAGGAATAGTAAACATGATACAGGTTAGTTGATGCAAACAAGGTACCTTTGTGGATTTTCCACTGTCTTCCTCTGCTTGTTGCACCAGCTTCACAAAAGAGCCTTTTGTTTTAACCACATTAACGTCTACTATCACATGAATAACTTGATCTTCTCAATGCAGCACTCTTCATCCATGTTTTTTAAAATAATGATCCACAAGTCTGTTCACATTTGTCATCACTCATCCCTGCTCCACCTTTGAACCCCTAAGCATACATGTTATTCTTTGACAACAGCCACATTTCATTCTCAATTTTGTATTCTCTAGACTTTCCAGTCTCTTCCTGTTCAGTTCTCTATCACTTTCTTTCCTGATTCTGGCCGATTCAGCCTTCTATTTGTGGCACATAACTATATTCTCTTTCTAGCACCTTCAGTATCCTAACTCACTTTTCTTTATGCTTCATCCTTTCCAAAAACCATTTAACTTGGATTAGTATCTGTCCATATGCAGGCTGCTGAGCGCTGCTACCGAAACTTCAGATACAGTGTACAGTGTACACTTCAGATACGGTTCAGATACAGTGGATGGGCCCTGAGCACTGCTCCTGTATTCCATAGTGATGTTCTTCACTCTTTCTTGAAGACTCCATTCTGTCACTGACTCCCCTTTTCCTTAGCAGAGCACCTTACGTTTTACTTCATAGAGAAAATTCAAGCTGTGAGATATGACCACTTGAAAATTCCTGTCCTTCTCTCTCATCTACAAATTTGTTTGAAGCCATCTTCGTCATCTTTGTTCTAATATAAAAGTTGACCTTATGAAATTGAAAGCTCATCCCTAGACCTGTGTACTGATTCTGTCTGTTCTCCTCTCTTTAGAGACCTCCTCCAGGGGGTCTTCCCTTGTTCTTCTGTCTTTTCATCTTTTCATCTCTTCTTACTCTGTTTGCCAGCCTACAATTGGGACTCCTTTGAAGGCACCAGGACTGATCTGAGCAATTGTTTGGCTTCTATTATAACCAGTTCTCTGGATTGTAGGATTGTTAAAGGAAAAAAAAGTACTAGATCTGGAAATGAGGTTAAAATTAGCAAGTAGAGAAGAATCTGGCAGGGACTCTGATTTAGTCATCTTTCTGTCTATCTGCTGTGTATATACCTGGACATAATTTATCACTAAATGCTGGAAGGAAGAAAGGGAGAAAGTCTATTAGTGATCTTAGAACAGTATAGAAATGCTCTGAAGTTTGTTGTATAATTGCATGGCTGTGATAATTTACCACTTCATGTACTTTTCAGTACTGTTTCCTTTAAATTATTTTTAAAAGGACAGGGACTTTAAACTTGCCATGAATGGTAGCCTATATTACACTATGTAAGTACACTTAATAACTATGCTGTGAGTTTATAATGATAAATATATCAGTGGTACTATAATTAATACTCTTTAAAACAATTTTACATGAATTATTGCAATTTTCTTGCATGGTTATTCATATATTAATAACTGGTCATAAAAACTGATGAAAAACTGGTCGTCAAAACTGAACACTTTTCTACTGTGTAATTTTCTTAAAAGCTTTATAAGGCATTTAACCTTAATTGTAGTGATAAAATACCCTCCTAACCCTCAAGATAATGTTCAGGACTGACCATAGCTTACCTTTCATCCTTCCAACCAGGGAATATGCACTATTTCTTCCACAACCACTTGGGGATACTTTTTACATTGTTTTATTTTCCTGGCTTAATATTTTTTTAAATTATAAATATATATAGATATCCATCTCCCTGAGGTAACCTTTAATATTTGGGATTTGCTTTTCATCTATTCAAGGGCCCGATAGATCCCTTGTTTTCATCTGTGCCTTCTCTGTTTCACAAGTACATATCCAGAGCAGCTTGTGATACTTGGAGAGCAATGTAACTACCTATTTGGAAAACAAAGGATGGGAAACTGGGTGGGCAGGGAAAATTAGAAGCACTATTTGCAAGGATCTGTGAAAATGGCACCTTTTGGTTTCTTAAGAAAGCATAATGATCAGACTCAATCCAAACAGGTATACAGCAGGTTGAGCCCAGATCCAGCTATAGTTTAAGATTTTAGGGTCTTGCATTTTGAGGCATAGTTTATGGGAAAAGAGAACAAACTATTGAGGGTGTCATATATCATGCCAGTTTATTACAGGGGTTCTGTGCAAATAAGGTAAGACTGACTTGGGTCAAAGGTAGCATTCATTTATTCAGTCATTCATTCAGTCAAAAATATAATAAGCAGCTACTTTATTCTAGACCCTGTGTGAAGTACTGGAGATATCAGGATTAGTAAGTAGATACAATAACTGCCTCACAGATCTTATCTTCATTCATTTATCATTTTATCAATAAAAGTTCTATAAATGTAAGCTGGGCACAGTGGCATGTGTCTATAGTTCCAGTGACTCAGGAGACTAAGGCAAGAGGATCGCTTGAGCCCAAGAGTTCAAGTCCAGCCTGGGCAACAATGAGACCTCGCCTCTTAAAAAAAAGATAATTCCGCAAATGTGATTAATACTTTCCTGGTGCCAAACACTGTGTGAGGTTGCTGAATATAGAGTGGTAAACAAAATAGACATACATCTTGTTCTCCAGGAACTATCCTTACAACTTATCAGAAAGATAGAACTGAATAAACAACAGTAAGAGAAGAGTGATAAAGGAAGTACAGTATTATGGAAGCAAATAGCACTATTTAACCTAGAAGGGGTCAGAGAAGTGCTGCCTAAGCTGGGAACTTAGTAGGAATAAACCAGATGAGGATGAGACGAAAGAATGTATCAGACAGAAGGCAGACCAGAGTCTGATATCAAGAGTAAGTATTGTGTTATACCAAAGTTATTGAAATTTTGTAAAAAAAATTAATAAAAAGTAAGCATTGTGGTTTTCAAGTAACTAAAAGCAAAGCATAGATTGCAAGGAGGGGTGTTCAGGCTGGAGGGCAAGAGGGGCCAAATCATGATAATGTATTAAGGAATTATATTTTATCCTAAGGACAAAAGGTAACCATTGCAGCATTTTAAGAAGGAAAGTCAGATTATGTTTTAAAGGGACTGTTTTAGCTGCAGTATGGAGAGAGTCTTAGTCTACTTTGTGGCAAAAGGTTTAAGACTCCTCTGAATACTCTTAATTTAGAGCTATAGATCCCCTAGGTATCCAAGGAACCTGAGCCACAGAGAGTCTTGCAGGCAGCCTTGCATTCACTCTCTGGTTTCTGTAAGATCCTTTAGAGCAAAGATCTTAAAAAAAAAATTCCACTATATTTCCAATACCTATATACTGTCTGCTGAATGAATGAATGAACAAAGGAATTAACAAATGAATGGACTGGACAGATTACTCTCTTTGGGGAACTTAGAATTATTTCCCTGGCTTCAAATTTTTCTGTCTTTTCTTCAGAAATAACATCTTCAAAGAGTTTCTTGTGTTCCTGATTTCCACTCTGTGTTTTCCCTTTGGCTTGTAGCGTATCCCTTACAGCAGTATATTCTGATTCTTCTGTGATGATCATTCTAAATTCTAGCGTGTTCTCTACCCTGTTTGTAAATCTTACATTGTCAGCTTTGGTTTGGTTCCTTTATCCTAGTTTTCTCAACTACTCATAGTTGGATCCCTTGACCGTACACCTGTAATTTTTATTCCAGCCTTGCTCATGTGTTGATTTCTATATCCAAGCCAGGATATAGAGAGAGATCTTTATCACCATCAGCTAGTTATACTTGGTTATGCTAAATAGACCCAATATTCTAAGAAATGTTTAATGGACTCCTAAATATCTCCCCCATTATGCTTCCATTGGAAAGCAAACTTGGAGTGCTGTGTGTTAAATTAGCATTAAGGTTTGCCATTAATACTTACAGTTCATTTTAAACTTCTGCTTCAGTTTCATGTCTTTAGTTTTAAGATCCACAGTGACGACTTGAACTCCACTCAGTTTTTTTGCTGAACTCAAGCCAGTGGCTGGTACGTTGCTCTACTACCAAATCCTGCCACCCTTCATTCTTATGACAGAATTTTGTTGTTTATATCAACTATTAAGCACCTTGAAGTTTGGGGAGATCTAAGCAATAAATAGCATTAATTATTGTTATTAGTAAATACCACTTAGCATGACATATAGACTATCATTAAAGCTTATCAGGAAAATAGACAACTAAATAAGCAATAACAACAAATCATTAAAGGAAGTATTTGAGCAAATAGCAGAAGTACTACAATCTAGAACCACTTAGTGTTATCCCCTGTTCCCCAGCGGGTAGTTCAGTCTAAAATTTTTGGAATCATTGTTTACTTCTCTCCTCTCACACTTTATATCCAGTCTACCAGAAAGTCATATTTTCTCTGCATTCAAAATACATTGAGGTACCTTTTACTATCCGTACTACCACTACCTCGATTGAAGTCATTGTGAATGCAGCCACTATCTAACTAGAGTCCTGCTTCCACCCTTGTTCCCATTCTTATTGGTTCTCAACCACACAATCTCAAATGTTCTGGTGTTAAAGCACAGCTCAGATTACATCACTCTTCTCTTGGAAATATCCCCATGACTAGTCATCTTGAGTATCAAAATCCTTACACATCCTACAAGTTTCTTTAAGGTGAAGCCCCATTATCTCTCTGCTTTTCGTTCCCAGTTTTCTACCTCATTTACTCTGTTCTAGCCATACTGGTCTTGCTTTTCAGTGAACAAACCCAGCTCGCTCCCTCTCATGGCCTTTACCCTTGCTGCTTCCTCTCCTTGGAATGCTCTCCCCGGGATATGTGCAAGGAAGCTTCCTTACCTCCTTCAGGTCTTTGCTCAAATGTCACTTTTTCAGTGAGGCCTTCCCTGACCATCCTGTTTCGAATGTAACCCCCGCACTCCCCCCTCCAATACTTCTTACTCTCTTTTCCATCTTTATTTTTCTCTGTGGCCTATATCTTAGTCTAATACTCTGTATATTATAATCTATTTATTTTTAAAAGTTTCTATGTATTCTGCCACTAAAAAGAAAGCTTCATAAGGGCAGAGATTTTTGTCTGTTTACTGCCCCATCCAAGCATGTAGACAGTAACTTGTACAAATAGGCTTTTCAGTAAATATTTGTTGAATAAATAAATGACTCCAATCATAAGGTTATTTACTCTCAAGCAAATTGGCATAAATCTCTTTTTTCCAATCATCAAGATTTAGCTTCCTGAGATATATTCTGTAGTATTTCATTATCTATTTTGAGATTTTTGGCTTCTATCTAAATCTACCCATAAATATTATGGTTTAACTTTATATTTCCACAATCTATCATTTGAAGTGTTTTATTTTTCTTAAGATCTCAAATGTAAAAAGCAATTTATTATAATTACATTGTTAGGTTTTCACTCATTTTTTGAGGTGTCTTACTGTATTTTGGAAGGTTCTGCTACCATATTCTGCATTTCTGGAAGAGTGTATTATTTTCCTAACTCATCTTAGTAACTTTCCTAGTCCTTGGTACGGTGTTTCACACACAGCAAGTACTCAGTAAAATTATTCATAGAAGACTTATATAAATAAACAAAGTTGAAAAAGTCTATATGTGGCTTTAAAACCTCCAGCATCCCCATTTTTGTATATTATACCCAGAAGAGAAACCTGTGGATGTTTTTTATTCATATATATGAATAAGTATATATTTATCAGTTTATTCATTCGGTGAATATTTATTGAGCTTCTATTATATGCCAGCCACTGTTCTTAAGTCGTAGAAATACACTGTAGTGAGAAAACATGAAATTCCTGTGAACAGGAATTACTGCATTTTAGTGAAGGAGATAGATAGCAAACAAATAAATATGTTAATATTAGAATTACATCAAAATCTTGAAATTAAAGATTAATATATGGCCAAGCTTTAAGTTGGGTTATCACCATCACAGTATGAACTTAGGGTATATATCTGAAATTTTATTCAGAAAAATAAAGCTTTTACTATAGCAATAGTATTACAAAATGTTGAGTCAAATTTTGCACAGGGACAGTAATTTCTCAGCAGTAACAGCTGATAAATCCTTCGTATGGCCAACTATCTTGCACATTTGGAATACTAAACAGTACTCTATGGTCTACAATGATATGCAGTTTTACAGAAGCAATCTTACAAAACATGCTATTTGTACTGCTTGCAGAAGATAAATCTTGGTTCTAGAAATTTGACAGTATAGCAACATAATTGGCTTTGAAGATAACAAAATCTTTCCCGAATTTCTATCTGCATTGCACCTTTCATCACATGCATACCAATTTTAGCAGCTTCCTGGAGTAGAATAAGAGTATCTTTACAGCAGAAAACATGCAGAGAATAAACTCTTATGACAAATTTGGTTTCTTGAAGAATCAGCAAGGTCCAGCAAACAATTTTTCCCTGCATGTAACCAGTGATTGTTAGTAATATCTCCTATGCTGGTACCCTTACTTGCAAAATATCATTTCAATGCTTCCCTTGATTTATGAGCCCTTTTTTTTTTTTTGCCATTTAAAGGCTTCTCTTAATCTTGTTTGAACATACGTTATTAATATATAACAAAAGAGTTGCTAAATGTCTTGTATGCCATATACTTTTATTTTTGGTAAAGAAGAAGAAATGATTGACAGTTTTTCTGCTGTTGTCAATAAATCCCAGCTATCAAAATTTTTTATTATTTCTGAAGATACAATGGAAGGTTGTGAACAAAACATTGTGTACTTGTGATTCCTAAATCAATCATAGCCTTCACCACATTTGTTCCACTGTCAATAATTGCATTATGCTTTATTTGCTGATTTTCCATTCTCTATTATCTATCAGCTTTACTTTGTTGTTAGCTATTTGCAACTGGAAATCTCTTCACAAGCAAGGAAAGTAGTGATTGGTTTTATTGTTAATTTATATGTTATCACACTTTAAAAGGACTTTGGGCTGTATATTATATTATTTATCTATTTGTCTGTTATACATAATATTGAAGTAGACTATTGAGTGTTTGGCTTAATACTACCAATAATACTAACTGTTGTATACAATAAAAATAATTTAAGAAAATATTTTTTAGTAATATATATTCTAGAAAGAATCTTGAACATAAGACTCATAGCTTAGCAAGCCTCAGAACTCCTTTTACTTCATCTCCTGAAAATTATTGGTAATCTATGTCAGTGATTTTGACAAGTTTTTTTTTTAACCTCCATAGATTCAAAACCTCAACAGGAAATTGTTCCTAAATATTATTTTTGATGTCTGCAGTTCTGAAATTTGATAAGTGAGAAAATATTATGTGTACCTAGTTTTTATTTTTTTCTCTCCTTTGTCTTTTATTTTTATGTCTGGATTGAAGATGATTTATATTGGATATTTTTAAAATATTTGACTTTTTCTCCTTGAGAAATTTTGAGATAGCAAAGTTGTTATTCCATTATTATTTGGTCCTCACAAAATGGGAAATATTTCCACATAACTCTTCCTCTTAAAAGACTCATGGAACAAAGTAACTTACGATTAAATTTTGTTACATGTTATTTAATTTTGAAAATGTCAGTATATTGAATAATTCCTCAAAGATCTGGATTTCAGGACTGTCTTGATACATATATTTTTGTATTAGTTAAATTTTTATTAATATTTCTTGACTAAAATGTTTCCAGCTTTTTAATATTTATCTTGCTATTATAATCTAATATTTATATTAATTATCAATCTATTTCTTGAACCATAAGTTCTGAAATCTTTAACATAAAAATAACAATTTTTATAATAATTATTCTTTAAATTCTTCTCTTGCTATACTAAACACATAGTAATGATTCAGACTAAGATAATTTCAACCTATAGAGCACATAAGGGGTTTTCATTCAAGTAGCATATAGTGAATATTTTTAAATAAATCTAAATGTCATGCCTTGTTGACAGTACTAACATTGTTACACTTATTAAATAAGGTAGTAACATCTGTCCTTATACAAATATTAATATTATATATTTCCGGGATGTCAGAACAGTGTTAAAGTAAGCATCTGTTTGTTAAGCCTACCAGAAGGTAAAAGGCAAATAACAGATCCTGGCCAAATATTGAAAATGAATTAAACTTTATTTCTAATACATATAAGGATGCTGTAAAGCAAAATGATGTAGATTAAGGGGGCTAGAGACAAGTGGGTTGGGGAAGGTAACACTTTAGTATGTATGGTCAGGGAAAGCCTGTCTTTGGAGGTGATATTTAAACAGAGACTTGAATAAAGTAAGAGAGCAAACCTTAAAATGTATCTGAGGGAAAAACAAATCCAGGTAGAGAGATCAGTAAGTACAGAATCTCTGAGACAGGAATGTGCTTTGCTTGTTCAAGGAATGAAAGTTTTACTGGAAATAAGGTTGAATGGGTGGCCAAGGACCATTATGTATGAGTCCATGTAGGCTTGGTAAGAAATTTAAATTTAGTCTGAGTACATGGGAGGTCAGTAGAAGATTGAGAGCAAAAGATTAAAAGGTGATTCCGCTGGTATATGAATAAGCTATAGGGAGGAAAAATAGGAGCAGCCTGACCAGTTAAGAGGTTATTGCTTTCAAAAAGCATACAAGTAGTTGCATCTCTTCTCAAATACCGAATGAATAAATACATTTTGTACATTCAAATAAATAATGCCTGTAAAATTCACTTTCTGCTTTCAAATATCTTGATGGAATGTAATGATTTCATAAAAACGAACTAGTTGAGGAAATTATCTTCAAGATTATGGATAGTCACATAAATATTTGAAAGACTTTATTTTTCATTCTGCAGATGTTTCAGCATTTAGTATATGAAACTATCTTTGTATAGACCTATATTTGCTATTATCTATGGACATTTGGGGCTTCTTTCTATGCCCATCTTAAAGTATGATTTTATTCTGGGATTATCTTTATATATTCTTTTTAATCTCTTTTTACTTATGTAGAGATTTGAATATTAATGTGAGTAAACAACTGACTTGCTTCGGAAAAAAAGAGGTTATTGCAGTAATCCAAGTGAGGTTATGATGGACTAGGGTGGTAGCTGTGTATTATGGACTAGGGTGGTGGCTGTGGAGGTGGAGGCTTCTTAAAGAAGTGGTCATATTTTCATATTAAACTTGTGGATTTGGCTATGGGGCATGGGAGAGAGATATCAAACGTGATTTCAAAGTTTTGTTGTTGTTGTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGGGTGCAGTGGCTCGATCTCAGCTCATTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTAGCAGCTGGGACTACAGGCGCACACCATCATGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTTCCAAACTGCTGGAATTACAGGTGTGAGCCACCGTGCGCGGCCCTTGATTTCAAAGTTTTGTCCTAAGCAGTTGGTTAAGTGGTTTAGTGAGTTGAAGGATACTGACAATATGGTAATAGAGCAGAGTTTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTAGGGAGGAGGGGAGTGGTCTTGCAAATTAAAAGTTCTAATTTGAACATGATAAGTTTAGATGTCTTTTAGACATCTTGGTGGAAATGTCAGAGAAGTAATTGATGAGAAAGCTACTGGAATTGGAAATAGAAAATTAGCAATTATCAGCATATCAACATAGTGTTTAAAACCATAGGAATGGCCAAGTATCTGGCACTGGTGCACTTCAATATTGAGATGTTTAGAAAAGGAAAAGTTGTCCATCATTAAAACCAAGAAATAGTAGTTAGGTATATAGAAGAAAGCCTGGGAGGCTGTAGTGATCAAGAAGCCAAGAGAATAAAGTGTTCTTAAAGGTCAGAATTATCAACTATGTCAAATGCTGTAAGTGAGGTTAGAGAAAAATCATGTTTGGCAACATGGAAGACGTTGGTGATCTTGAGGAGATGTTTTGTGAAGTTCTAAAGAATGAAAGCCTGGTCATATGAGTTTAAAAAAGAATAAGGGGTGAAGTTGAGACAGCAAATATAGACAGTTTTTTCAGGGAGTTGTGTTATGAAGTAACACAGATGAATAGAGTGAGACTGACAGGGAGAAGAGCCAAAGGAATTTTTTTGGTTTGGTTTTGTTTTTTAATATAGGGGATTTTTGACCATATCTGTGTTCACTATAAATTTTTAAATTGATGGTACAAGAAAAAGGAAATGATTTTAGGAGTAAAGTTCTTAAAAAGGCAAGAGGAAATAGGGCCCAATGCACATGTGGAAAGATAGGCCTTAAATAGGAGCTTGAACTATTCACAAAATAAGTTATAGTTATAAATTATTATTAATAATTAAGAGGAGACCTATAAGTAGGTGGACATTATAAATTCCTGTTTTGCCACACTAAAAATTAAATACTGTGCCAAAAAGTAATTTTTAATAATCTTGTTTCCCATAGTGGTTCAGGTTCTGCATGAACACCATCAGGGTTTTTAGCCCATGTAACTCAACTCATTTCTCTATTTAGAAAAGTCAGGGAAATGGTAAATAAAAAACAAAGAATGAAATTGTATTACCTGAGATTTCCTCCACAAGGTGATAAAAATATATCACAAAGTTCTACTGAAAAATGGTACTTTTTTATATCAAATATTGAGCCTAGAAACCCAGGTTTATAAGTTTAATTTAAAAAATACCAAATCTATGGATGGAAACTCCAGTACTCTAATAGGTGGCTATATTAAGGATGGGGAAGAGTAAGATTTCCTTTTTTAACAGTAAGGTAGGGTATATTCTCTTTCTAGACAAGACTATGTCTATTAACTTAATAAAGTTAAACAAGGTAAAAAATCAACCCAGTGGAAATAGAGCTGTGGGGCCTAAAATCTTCCTCAAATCCTTTGTACAGCTTGAGACTTTTCAGTACGCTACACAATGTGGGAAACCATTAACATAACCCAGTCAAAAAGTGGTTACGATTTTAAAAGTTAGAGTCATTGACTTCAATTTACAGACTTGGAAGAAGCAAGCCTTCCAAGTATCCATCATGCCATTACCACATTCATCAAATTCATAGAAGTTACTTTGTCCCAGAATCTGCATCCATCACTAGACAGCATGGCTAAACTTTGTTCTATTTGAGAGGTTTATTATAACTAAGTTTTTTAAGGCATTGGAAATGTGTAACATGCTTTAAATTTTATAAGCACTTGGGTTTACTACTAATGTTTTGTTTCTTGTGGGTATCTCATTAATTCGGGTAAAGTTGTTTTGTTTCTTCTCTGTTTTGTTAATTCAAGATTTGAGTTTTGGGGTTTTTTAATGTTTTGTCCAATATTTTTACCAGATATTGTTGACATCCAAATAATAACCAACAAGGTAGGACCCAAAATACTAGGATTTTTTTTATGTTATTTGCAACTCTCTGATAAATATTGAAAGAAAAAGGCTTAGTCTTTTAAGATACCTAAGACATAATTATAAAGGATGATTAACAAGTGGCAGGTCACTTTTAGCATTTGAAAATTCTTCAGAAATTTTTTCCACCTTATTGGATGCAGGTTCTATGCTTACTATGCCAAGGATTAAAGGGGGAAGAAAATAATAACTTTCGGTAGAAAAATTAGGATATTACGTTTAAGGATAATAGTAAGCAAATCGGGGGAGGTTGGGGAGGAGCTTACTACATTATCTACAGTGCTTTTTACTGGAATGAATGTGGGTGATCATGTGTGTGTATGTTCTTCCACAATACTGTTTAACAACATCATGTTCTGTGTATAAATTAGTGTGTGGAGAGATTTCCTATTTAACTTAAAACTGTTTCTAAAAAGATACCTCTTCCACAGGAAAATCTTATCCCATTTCTCTGTGGCTCCAGATCTGCTAGTTCTGACATTTATATTCTACAAAATGGTTAGAATCTTCAGGGAAATTTAGAATAAGTAAAGGTTAAAATACCATAAAAACAAAGTCCTAAGTCAAACTATTTCTGTGCCTTAGGAGGGGAAATGCAAATAGTTAAGAAGTGTTATCCAGCCTACAAGGGAACTCAATCCACAGTAGAAGAGGGTAGGGCAGAGAGAGATTTCTTATAGTCAGCTTTCAGCAATATCTTTAAATCTGGAGATAAGAAATGCCAGAAACATCAGAATTTCTTTATAAGTTTATCATGTTAAAGCCCTTCTCAAAGCCAGTACTTACCTGTTTCTTGGTTAAGGTTACTTAAAAACATGAACATGGGGACATGAAAATTTAAGTTTCTTAGAAGTTTTACTTTGAAAAACTCTCAGAAAAGCAACACAATGAAGTCATTACTTTAGGAAAATGTTAGCCAAATTCCAGGTATAAAACTATAGGTATTGATTTAAATTGATCAAAGATTCTTTTTTTTCCTTTGTTTCTTAATTCCTACTAGTAGCATGTAGAGCTGTAGATATAAAGGTAAAATATTTAAAAATTTGTTGTGTTAAAACTGGTAGAAATAGGAAAGACGTTTCTGATATGGTGGCATGTGAACAGAGACCTAAAGGAGGTAAGGGAATAGCCTATACAGGTAAATGTCTGGTAGAAGAGAGTTTCAGGCAGAGGGAACAGCAAGTGCCATGGCCTGAGGCAAAAAGGGTTTTTTGAGAAAGGGCGGCAAGTGTGCCTGAAGGAAACAAGACAGAAAAAGGTGTCCAGAGAAGTCAGAAGTTAGGTAGTGAGGGGCAATGGGTTTAGAATTCAGGCAGGAACAGACAATGCAGGCGTTGTCTGCTATCAAAAGGACACTGACTTCTGTGAGTGAGATGGGATAACTCTGGGCAACTTTTGAAGACTAGACTGTATGCAGGAAGGAAGGCCAACAGTTAGGATTTATATTTGTGCTTGCCTTTGGATCTTCAAAATATCTTCCTCAAATTATTTTTAACACATGTATTAATTGTATTTAACTATTCATGGAAGCTCAGCAATGCCATCTAGTTTTCAAATTGATCCATTGTTTAAAGAATGAGGTCAAGAATTGTCTTACACTCAACCACGTAATCAATAAGCCAAGAGTGTTATTCATACCAAGTCACACATTGAACTTTATATTAATCAAATCTTCTCTATACATGTGGTAATTATTAAGTTTAGAAATTATTCATTTTCATTATTATTCTTAATTAGAATATTGTTTAATTAAAAAATAATGATCTTACTGAAAGCATGTTAGAGCCATAATTTTACTCATTGAATTCCATTTTGCTCAGCCTAAAACACTGAAATGTTTACCTACAAAATATGGCAATTTATAAGCTAATTTTCTTCTACCTAATACATATAATTAGGTAGCATTTTTACAAATTGATAGGTATTTTAAAGTCACCAATTAAAAGGCAAAACTTGTCAGATTGGATAAAACAAGACCCAACTATGATGGCCATAAGGCATCATGGCATTGCACTTTAAATATAAATACACAAATAAGTTAAAAGGAAAATGATAGAAAAAGATGTATCATGCTAACACTAGCCAAAAGAAAGCTGGTGTAGCTATATTAAATATTGAGCAAAATAGGTGTCCCAGCAAAGTTACTAACCAGAGATAACAAAGATTATTTTATAATGATACAGAGATCAAGTCATCAAAAGAACATAACAAAACCAAACTTTTACACACCTAATAACAGAGTTTGAAAATAAATGAAGCAAAACACTGAGAACTGCAAAGAGAAATAGATAAATCCAGAATTAAAGTTGGAGATTTCAACATACGCCTCTCAGTAACTGAAAGGATAAATAGATAGCAGATCAGTAAAGATATAAAAGACTTGAGTAACACTATTAGCCAGATTAATATTTATAGAACATTAACAAAAGCAGAATGCGCATTCAAGTGCGCACAGGGTGTTTACAGTGGTAGGTCACATTCTGTGCCATACAGCTAGTCTAAATAAATCTAACAGAATTCAAACCACACAAAGTATGCTTTCTCACCACAATGGAATTAAGTTAGAAACCGGTAACAAAGATTTATTGAAAATCCTAAAATATTTGGAAATAAAATAAATACTTGTAAATAACCCATGGGTCAAAGAAGATATCAAAAATAAAGTTGGAAATTAATTTAATTGAATAAAAATTAAAACACAATACATTAAAATGTGGACATGGCACATTGAGAAGAATGATCGCTTAAATTACTTATTTGCATTAAACACTTTTGCCAAGGAACACAGTGCATTAAAACAAAGTAAAATGGCATCAGTTTATAAATAACATTGTCTTTTACATTATAGAATTGCAATTATATGTGAATGAAGATATTCATTAATAGGCTATAGGCTAGACAGACCCACTGGAATATTTTGATATTTTCCCCATATTTTTCTATGTATTTAAATAATGTTTTTATATAATTAGGTTCATACTGTGTATACATTTTTGCATTCTGATAAATACGTTAGGTCCTAAACAGTTTCCAATGATATTAAATATGTTTCCAATACCAGTTATTGGCTGTGTAATTTTGTAGTGATATGCCATAATTTAATCAGCTAATTTCCTAAACATTTTCCAATTATATTAGATATTTTTCCAATACCAGTTTTTATTGGCTGTGTAATTTTGTAGTGATATATAGAGATAGGTTTTTAGCCCAACAGAATAGCAGGAGAAATGTAGTGCTATGCCATAATTTAATCAGCTAATTTCTAATTATGCTTCTAATTTGTTATAATTTTGAATGAGCAAGCCATGTATAATAATGTCTTCATTATTCCCTTAATTTGCATTCCAAGAAATGAATCACTGAGTAAAAGGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTATCACCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGTCTCCCAAGTAGCTGGGGCTACAGGCGCGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCACGATCCCCAAACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACGGTGCCCAGCCAAGGCTTGTATATTTTTAAAGCCTTGACACATTTTATCACATTGTTTTATCACAGTGTACCAGTATATACTCCTACCAAAATTTTGTCCATGTTGCAACCCTTAGCAACATTTAATCGTTATCATTTCTCCTGCTATTCTGTTGGGCTAAAAACCTATCTCAGTTTTACATAACTTTTGAAGATGATATCTTGTTTCTATAATTATGTAAACAATTTGCCACTTTGTTAATGTTATTAACTCATTTTCATATTTGTGGTAAATGTGTTTTTCCAATTTAGTTTTAATGGTATATATATAGATATAAAATCTTGTATAATATAGCCTATATTTCTTTTATCTTTTTAATGAAAGTCCACCATTCTGTAATCAGATGTATAATCTCACCCCTTTTTTTCCTCATGTGAATTTTTTTCCTCCATTATGGAATAAAATTTTACTCTGAATGGTAAGTAGCACAGTTTTAGGTTAGAATGTGAACTGAAGATTGAATTTTTTTCCAAAACAATAGTTTTTCCCCAGCATAATTGATTGAATAATGTTTTTATTCCTCAGTGACCTTATAATAGGTTAAATTCTAACATTTTTACTTGATTATGATCAGAGGCTCAGTTTCTTCCTGGTGTGTGGATACGCATTTCATAAATGTTTGCAAAAACTTTAAAGGAATTTTTCCTCCATAGGGTATCACTGATACATTTGAATCACTTAATTTTTTTTTTTGGATCTCATGCTTTTGGCCCTTTGGGATTTTCATAAAGTTGTTTTCATGCACATTTAATTTTGTCACAATAATTATATAGATTTAATTCTATGTTTAACTGATTTCATTGCTTATAGCCAATAGGATTAGCCTCTGACTTCTATATCCCTAAAAATATTAGTGTTAATTAATATGTAAAAGATATGGAAAACTTTTTTTTTTTAGAAAGAGATACAGACATGTATGTGTTCTGAACTCTCGCCTATGTAAAAATGATACCTGCTTGTATTACAATTTACTGATAAGTTACCTAGATAATATTCTAGGATAGCCTTTTACCTTCAAAATTCTGTATATTTTGGTCCATAAAGGAGTGGAACTCTTATGACATACTATTTATTTCTTACATAGTTTTCCACTTACTATCATTTTTCACAGTTATTTTTGTATGTCTCATCTCCTCTAAATAAGCTGTTTGCATTCAGTAAATGCTTCTGAGTAAATGAATGTAATTTGAATTCGTAAATCCTACTACATAATCAACATTTTAAAAATAAAATATTGCAATATCATATCACTTTTGAAAATCATTTATGTTATAATAATGGAGGTAAACTCGATAATCTTTATCATTCATTCCAGTTTAGAAGTTTTACTGCCTGTGATTCTAAGTGTTTGTGCGTGTATAATATTCAAGAAATTGCCTAGCCCATTTAGCTGTTCAATTCTATTAGCTATTTATTCACTTACTTCCATGTTATATCCGTTATATGCCATTTGAAGAATTATGAGTATATAGTCTCATAGTCATAGAAGGGACTAGAGGTTTTATGTTTAATCTCAAACCTAATCCTTTAAAAGGGGCATAGCCCATAACTTAGAGTGAAGTAAAGAACATTTATGAAAAATATTTGCCAGTTAGTATGCCTACGACTTTGTTCAAAGCCCAATTTATGTGTGCATATTTCTGGTTATTAAAGATAATGCTACTTCTTTATTTTCATGCTTATCAGTATAAATGTGGTTAAGAGAAAAAAATATGCTTATCGTTTCTGCACTGTGACGTTTGCTGTTCAAAGATATTATGCATGCTAAAATAATCTTTGTTATTTATTTATCTCATTAAATAACACATTTGCATTAGTCTACCTTTAAGCTTAATAGCTTAACAAGTTATTTTTTCCATAGATTAATAACATTTTTACTAAAAGAGCTTTCCCTTCTTGACAAATTATATTATTCAAACAAGTGAAAATCTGATTATCAGCCATGTTAGTTTAGACATATATATATATATATATATATATATACACACATTCATTACTGGCAACAACTCTTCAGGACATTTGAATTCAAAATTAATTTTACAGCATTAATGAAATAGTAGTATAGTTGGAAATACTTATTAAATGACTGTTTTAAAATAACTGTTATAAAATAACAGGAATAAATATTAACTATAATAAAGATACAGTTAAGTATAATTTGTTGATTATGTTTAGCTAGCGAAAGAAATTAGCAGATAATTTAATAAAAATTATTTGATAGGGAATAAATATGCTATGTATAATATTATTTAATTGAAAATACTTTATGAAGCGCTATCATTGTAAAGGATATAGCCAAGAGAAATAATTATGCTTCGCTAAGAAGATCTTTTAAAAGTCTTTTCTGTTTATACAAAACATATTATTCATTGGTAGAGGAACATAGGAACATTTCTGAGTACTATTCAAATGCATTAAGATGTTAATGCAAACACAGCTTTAGAGATTTTAATTTCTTCTATTCTAGACCTGGCTAAGAGATGTAAATGCTTGGGTAAATAATAGGGTGTTACAGTACATGAAACACATCCTTTCTATGACAGTAATAAATTAAATGAACACATATTTTTCTAGGCTGTTTATAAATCATGCAAAATGAATTACTGAGTAAATGAGGATTCTGTACGTTTTTAATCGCTGACATTACTATAGTACCATCTCTGTGCACCAGCTGAACTAATAGCTTACTGATGATTTCTGAATCAGTCTATCTCTTAAAGGATATTATCACCTGCAGGAAATATTACAGAGAAACAAGTCACTTAAAACTACCTGAGTTTAATAACTTCCTGGTTCCAGCAGCTTATTTGACCTTGAGCAAGACCCTTAACCTCACTGGGCCTCCACTTCCTCATTTGTAAAGTGGGGATACTAATACTAACTTGCAGGGTCATGGTAAGTGTAAATTTGGTTAATACATGGAAAGCATATAGTAAGTGTTACACAGACTTTCTGTTGTTTTTGTTATCTGTTCCAAATGGCAATTTTTAAAAAATGCTTATGAAATATACTTTATATTGATATGTATTTCTCCAAATGGAATATGAGTTGATTATTTAAAAACACCTTTTAACACAAAATTATTTCTTCTTGGACATTGCCCTCCACTGTTGTAAGATGGCATATTCACCATCAAATCTGGAACTGGAACCCTTATTCAGTTCACATTGCCAAGAGAACTTTTTAGTTAGGCCTGGATGCTCAGTATTTCGTCAGCACACTACAAGTGCTGGCCCAAAATGGGGTGCTGTACATTAGGTTAATTTTCACCTTTTGGACTTTTTATTTTGAGCAGATTTTTACCAACAAACAATTGTGCAAGGAATCGTATTTAAGATGGATGGATATTATGCCAAATTGCAATGCCAGACTTTACAATGTAAAATGGAAATGTTATATATATATTTTCTAGCTACCATTTCAGAGCATTTGGAAGCTGAATTACTTTCTTATTGAAAATGACTTAAGTCTTTAATTGACTTATAAGTGTGTGTGTATTTATATGTTCATATTTCCCCCCCTCTAGAACTGGGTAGATAAAGCTGAAAAACAGGCTCTTCTCTCTGAAACACTTGACCTATCAGAACTTTTCCATCCAGACACATTTCTTAATGCTCTTCGCCAGGAAACTGCAAGGTAATTAAAATGAAATACTTTACCTATTTGTCCCTGACGGTAATTAGTTTTGCTTTATTGACTTCCTATTACACTGCCCTTGATTGTCAAGAAATAAATTTATTATTGAAACACAGTTATGTTATTTTCTTATTCTCTACTTTAAATCATACAGTTAACCTTTAGCTTAAAAAGCATTGCTTTTAATGATGATATGTTTTATTCAAATTTAAAAAGATAAAATGTAACTTTTATAATTTTGATCATTTATCTATACCTGTGCTGTCCACTATGGTAGCCAGAAGTCACATGGACCTATGTAAATGAATTAAAGTAAAAATCAGATTTGAAATTCAGTTTTTCAGTAACTCTAACCACATTTAAAGTGCTCAATATCCACATGGCTTGTGGCTACCATTTTGGACTGCATGAAAATATTTTTATCTTCGCAGAAAATTCTGCTGGACAGTGCTGACTAGGCTCCTTGGTGGAGAACAGGACTTGATGATTAAGATCAAGCTCCTTTTCTTACCACACTCAGATTATCATATCATATATAATTTTTAACAAGTTGGAATGTAATAAAAGGGACATTACTAAAAATATCCTCAACAAAATTTAGTTGTTTAGTAACTCTCAGGGGTATTTCAATTTGTATTGCTTCAGGCTATTATAAACATCAAATTTCAGTTCAGCTAATAAACATTTATTGAACACCCATCGTGTGCCTGCATTTGAGGGTCATGGTCAAAACAGGATTTAAAAATGAAAAAAAGAAAGGCCTTATCCTTAAGGAACTTACAGCATCAAAGAGGAGACTGACAGTTAGCTTTGAAAATTTAGTGTGAACTCTGACATATTATGCATAGTTTAATGGTATTATTATTTACACATGGTAAATATTTTAATTTTAAATAAATAGGACTATATCTTCAGTTACTCTTCATATTTTAATTCCTAAGGATTATTGATTTGTGACTTTGATGCTTTACCTTTACAGGGCAGTGGGTCGTTCTGTGGATAGCCTTAAATTTGTAGCCTCATGGAAAGGTCGACTGCAAGAAGCAAAGCTACAAATTAAGGTACTAGACTAATTTTAGATCTTGGAATCTCAGCCTTATCACCAACTGATATAAGAGATTCTGAAATTTTGATCTCAAAGTGACCTATCTTTATAGTGTAAGATCAGTAGAGTTAGATTGTATTATCTATGTGAAAAATCAAAATAAGATTTGGCATGAAACAACTTGTAATAGAAAATACAGACTCTTCTTATGCAAACATAAGAATCTTGGGGATACAATATTTGAAAGTGTAACTTTTAGCACAAATTTATACAAACCATGCAGTTCTTTTACCTTACCTGTTCTAAAATTGAACCTAATATTTACTGTACAATAAACTACATACAGGTTGAGCATCCAAACATCCCTAATCCAAAAATCCAAAACACCCCCAAATCTGAACCTTTTTGATTGCCAATGTGATACCACGTATTGTCGTATTTTGGTCCACATGGGTGGCCAAGATAGTGACACCTTTGCTTTCTGATGGTTCAGTGTGCGCAAACATTGTTTCATGCACAAAATTCTTTAAAATATTATATAAAATTACCTTTGGGGTATATGTATAAAATGTATATGAAACATAAGTGAATTTGGTGTTTAGACTTGGGTCCCATCCCCAAGATAGTTCATTTGTGTATGTGCAAATAGTCATGCACTGCATAACGATGTTTGTCAATGACAGGTTGCACATACTACAGTGGTTCCATAAAATTATAATGAAGCTGAAAAATTCATATTGCCCGGTGACGTCTTTTGTTCATTGTAACATTTTGGTGCACACATTAGTCCTGTGTTTGCAGTGATGCTAGTGTAAACAAATCTGCGCTGCCAGTTATATAAAAGTAAAGCACATATAATTATGTATAGTACATAATACTTGATAACCGTTCATGCTTTATGTATTTACTATATAATACCTTTTATCATTATTTTAGAGTGTACTCCTTCTAATTATATTCTTCAAAAAGTTAACTGTAAGACAGCCTCAGGCAGGTCCTTCAGGAGGTATACAAGAAGAAGGCATTGTAACCATAGGAGATGACAGCTTCACGCCTGTTACTGCCCCTAAAGACCTTCCAGTGCTGTAAGATGTGAAGGTGGAAGACTGATAATAATGATCCTGACCCTGTGGGAGGCCTAGGCTAATGTGTGCATCTGTGTCTTCATTTTTAACAAAAAAGTTTAAATAGTAAAAATTAAAATAAATTTTAAAAAGAAAAAACTTAAAAAATAATGATATAAAACTATTTTTATACTTTTTGACTCTTATAAATAACACTTAGCTTAAAACATAAACACATTGTACAGATACGCAAAAAATCAAAAGTATAAAGTAAAAAGTGTTTATGTTTAAAACACCTGGGTTCAAGTGATCCTTCTGCCTTGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCTATTGCACTTGGCCTGACTATAGTTCTTTAATGCAGTTAACTTTATGCAACTAGCTTTTCAGAAATTCCATTCATATAGTTCTAGTTTCCTGCTCAAAACACTTTTTACTTTATACTTTTAATTTTTTTAACTTTTTGACTTTTATAAATAACACTTAGCTTAAAACATAAACACGAGATGTGTAAAAAATTAAAAGTATAAAATAAAAAGTTACAGTAAGCTAAGGTTAATTATTGAAGAAAATTATTTTTAACAAATTATTGAAGCCTAAGTGTACAGTGTTTATAAAGTCTACAGTAATATATAGTAGTGTCCTAGGCCTTCACATCATTCACCACTTATTCACTGACTCACCCAGAGCAACTTGCATTCTTTCAAACTCCATTCATGGTAAGTGCCCTGAACAGGTATAGGATTTTTTTTATCTTTTATACTCTCTTTACTGTATATTTTCTATGCATAGATACACTTACCATGTGTTCCAGTTGCCTACAGTATTCAGCACAATTACATGCTGTACAGATTTGTTTCCTAGGAGCAATAGGCTATAGCATCTAGCCTAGGTATGTAGTAGGCTATACCATCTAGGTTTGTTTAAGTACACTCTCATGTTCACACAGTGATGAAGTCACCTAATGATGCATTTCTCAGAATGTATTCCCATCATTAAGTGATGTATGACTGTATTCCAAAATTCAAAAAAAAATTCAAAATCAAAAACACTTTGTTCCCGAGCATTTCAGATAAGGGATACTCAACCTGTATATAGTATATAAAAATTAGTATATAAAAAATCTTGTCCTCAGGGAGTTTATAATTTGTGAGTACATTAGTTAACAGTTTAAAAAAAAAGCCACTTATGATGATCTATTTCTTTCGTAGTACAAATTTTTCTTAGCTCTTTTTCCTGTTAAAAATCCATTATTTTTACAATAACAGGTAATCATTCAAACATTAACAAAAATAATTTAAAAGTCTGTGATGGAAACTTTTTCCCCAGCAACCCCAACCTTTTTTTGTATCACTAGCCCCTCTTACACTATCATTCCTTGCCATTCCTCTTTCCCATTTCTTTACATAGAATTGCCCTCTTAACATTTTTTTCCAGTTAAAAACTTCAAGCTGGTCTCAAACTTCTGGGCTCAAGCAATCCACCTTCCTCGGCCTCCCAAAGCGACCAGATTACAGGCGTGAGCCATTGCATATGGCCTGGCTATAGTTCTTTAATGCAGTTAACTTTATACAACTAACTTATTAGAAATTCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGAAATTCCATTCATATAGTTCATTTCCTGCTCAAAAAATTTGTTTTCGTATTACTACTATTTTCTAACATACTGTCATTTATTTATATTTGTTGTCTTATTCTAGTAGAATGTAAGTCCCGCAAGAGTAGTAACAATAGCCGTTACATAATAAGCATTCGATCAAACCCTTTCTGAAGGGTTGAGCGCCTATAATAGGAGAGGCACTGTAGTAGGTGTTCCTAGCATCGGCTACAATGGTATAGTGTGCCAGAAATTTGATCATTACCAACAAGCTAGATCTTTCCCTTTTGGCTCTATAGACTGCCATAAAATTCTCACTTAAAGCTGAAGGAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAGAAAAAAAAAAAAAAGCTGAAGGACTTAGAAAAGTTTTCTTTCATTTAATTTTGTCGTTTTGTTTTGTTGAGATGGGGTTTTGCTATGTGGCCCAGGGTGAATTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTCAGCTTCTTGAGTAGCTGGGATTACAGGCACATACCACCACACCCAGCTTCTTGACATTTTATTTTAACCTTAGCCCCTAGCTCATGAGAAGTACCTTGGCTATTACTGGTGGGTCATACACTGCTATCCAATTGTCAGGAGAGTGAGGGAACACAAAACATGTATATTTAGTCTCTGGCAGCTGTGAACCATGCATGTAATTATAGCATCATTTTTTAATTTAGGAGTATAATAAGCAAGGGAAACCAGTTTTATTGTGTCAAAATGTGTTCATATTTCCCAAAGTATATTGACCGTTCTTTCAAAATGGGAATAAAGTCGTGCACAACCAGAAAATCCCAAGCTTATATAATTGTTTTGTACATTGGGGCAGTGGGTGGGGTGGGGGGTGGGCTGCACTGACAGTAAAATAAGATTATAATATTAGTATCTGAAAAAGAGCTATGTGACATTTTTAAGCAATTAATGGGGCAGTCTGAGCCTTGGCTGTCACAGTTATGAGTAGACTTCAATAATAACTTCATTGACATGTTTATTATGAGGATCTCTGAAAATATATGTATAATCTGTATATATATAATGAATGTATATTTTTATATATACAATGAATATATATTTTCATATATATTCAGATTACATATATGATTAAGATTTATATAGTAGGAAATATTTGTTTCTTAGTTAGAAAACCAAGTATGTTTTCATATAAAGTTCTGTATATCCAGTGAGCAAAATTCTTTTATTTTTCATTTGGGATTCATTAAAAGATATTTTATTGTTAAGAATTAAAATATTCACTTGTAAATATTTAGTAACATAAATAAGCATGGTATAATGACTAGAAAATAATTGTCATTTTTGTTAGTAATGTATTTCCACATATACTTACAACTTTAATTTTAAAAGCCATCTCTACATATGAGATTTAAGATAACTCGACAGAACTTTTCCTCTCTCTGGTCCATTCATGTGAGCTATAAAAGCACATTTTCTAACTTTCTCGCCTGCAGTTTCCAATAATGTTACCAGGGAAGAAGTCTTTGTAAGGCTTTCACTGTTAGCACTTGGCAAAATTAGTAAGTTCATTTGTCCATTTAGGCTCCTTTTAATTATGTTTTTCAGCAGAGGGGATTGTTTCAATAGGAGAAATTTGGATTTGAATTATACTTGAATTTTACTATCACTATAATTTTATTAGTTTTTTTTAAAATCTCTATCACCATAGACTGAATTAAACAGTGAGGCTGTAGTTCTCCAAACCGATCAATATCTTAAACCCTTTAGACCTACTTGAGAGAACATATTTATGTATTGATTTTCAGTTCCTGAACATGGCCCTCTAAAATTCCTGCCATTATTGATCTATTATGTGTTAAATAGTACTTGAAAACTTGATATTGCAAAATACATAAATCAAGCTCCTGTTCAGCCTACATTTTACATCTTCCTCCAAGGCTGAGAGAGGATTGCCCTAGCAACACTTCGAGTGCTCAGTAGCCATATGCGGTATAGTATATACAGTAACCACATATGGCTGCTGAGCACATACGGGTACTATATTGTAGCTCTGCATGGAACGGTCAATTCCCTAGAAAATGTAAACATCCTTTGGTCTTCAAGGTTTTTTTTTTTTAATAATGTTTAATACTTTCTATTATTAAACATTTTAAACAAATACAGAAGAGAGAGTAGTAAAATGAGTCTGCATATTTCAAGGTTTTAAGATTTAGAAACATTCCACCTTTTTCTCTTTTTTCTTGCTAAAACACATTTCAGACATCATTTTATTTTACCCCTCTATGGTTCTGAATGTGTTTCTTTAAAAATATTTTTTTTCTTAAATATAATGTATTATCACAAATATCAAAATTAAAATTCCTTGGAATCATTTAATATTCAGTCCAAAACAATATTGACCAGTCTTCAAAAGAACTCTTTCCAGTGGTTTGTTTGAATCAGTGTCAAAATAATGAAATGAGATGCTAACATGGCATTTGGTGATGTGCCTTAAGTCTTTTTATATCTAAATCAGGTTCCACCTTTCATTTATTACCACTGTTACAGGAGTGGGGTCATTTCTCCTATAGAATGATGTACATTCTGTATTCATCTGCTTGCTTCCTTATGTTAGTAAACTTTTGTTCCTCTGTCTCTCATTCCTTATAAATATAAATTAATTCCAAAGATCTAATTACATTGATTTTTTTTTGTGTGGAGGGGCAACAAAAATACTTCATAAGTGGCACTGTGTTCTTCATTTTACATTGTATCATAAGGCACACACGTGTTGTTTTCTTGTTTTTAGTCATGCTAACATTGATTCATGTGTACAGGCAGTGACAGCCTCATTCCTCATGTAAAGTTTCTCATCAGTATTTCATCTAATAGATCATTGCTTGGATAACTACGGTTGCACACTGATTTTTCTAATTTTGTTATTCCTTCCACATTTATTAGCTAAAATTCTTCTGCAAAGAGGCTTCAATTAGGTCTATTTAGTTACCTGGATATTATGAAATACATTTTTTGTTGAAAATAAAGAATACCTAATTTTTTCATTTAAACTGGGAATATTCAAAAGATGCTGTTGATAGTTTCCAGCAGTGTCCAGTGACATTTTCTCTTTAAGTATCATTGTGAGCTTCTTGTATATCTAATGTTTCAGTAAATTGCATTTATTTTATTTTTCATGTGCAGTTGTCTCTGGTCTTTGGCATATATGTGACGCCTCTTAATGTTGACCTGTATATCTTTCTTTTTGCTTTTATGAGGAGGGGGTAAACCTTAATAGTGAAGTGTAGCGTCATACACAAAAATGTACAAATTTCAGAGTACAGCTTTATGAATTTTCAGTAAGTGAATAAACCTATGAAACAATCATGCAGATCAGTATAATATTTTATGGTGATTCGTTCTCAAAAATTATGTTTGCAGTTAAATGGACCTAACACATATAGTACAAACCTTATTTTTCTTTCAATATATTGTAAACAACTGAGAACCGCTGAAGATGGCCCAGGGAGATTGTGATTCATCCACTCTTATCTAAATATATACTAATGATTGGTAAAATATAAAAAAAGGAAATCACAAACCTTAGCTGGCTTGAAATACAAGATAAGTATTACATTGTGTCAGAAACAGGACAGAAAATAAAATTATAAGTAGGGCCGGAAATACAGATAGATTGAGCTATAAGTCCAGAATTAGGAAGCAATGAAGCATGGCTTTTTTAAAGTAAAAGGAATTAGTAGTGCTAAATGTTACATAGGACTATAACCAGGCTTGTTGCTGGTCGAATCCAGTTCTGAGGTTAGGCTCTCCATCTCCCCAATAAAAAGAGACTGAATAAAGCTGTTGCAGGCCTGGAGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAAGCAGATCGCTTGAGCCCAGGTGTTTAAGACCAGCCTGAGCAACATGGAAGAACCCTGTTTCTACTACAAATACAAAAAATTAGCCAGGCCTGGTGGTGCATGCCTGTCATCCCAGCTACTCAAGAGGCTGAGGTGGGAGAATCACCTGAGTCCAGGAGATCAAGGCTGCAGTGAGTCATGATCATGCCACTGTATTCCAGCCTGGGCAATGGGAGTGAGACCCTGCCGCAAATAACCAAACAAACAAAATAAAGCTGTTGCAGAATCACTGATTGAGTTTATGGCATTATAGAAATCTGTAGGCTTAAGAAAGCTGAAAGACAAAGAAATAGCCTGACTCCTTAGATGCTGAATCTCACTACCTATCCACGAGATCTGCAGTATCCCAACATTGCCAGAACAGAACCCCCAAACTGGCATTATAAATATCGTATGTATGTAGATATGGAAGGGACAGTACAGAGGTCTATGGAGGGAAAATACTGCTCAAGATGAACCTAGAATCCAAAATCCAAAGTAAATGGGAAAAAAAATCTAATCCAAAAAGGAAAACTAACAAAATCATTCAGATGAAACAGCTAGTCAATTAGTTGTTAATTTTATAGAAAAATCTGACAAAAAAGTTAACTATTTTAGTTTCCTTGAACAGATACATGAAGGAATAACTTGCAGTACAAAATAACAAGAACTTCTGGAGAGAAACAGGGAAAGATAATACAGTTATAGTTGAAAGTAATGTCAGAAATGAAAAATGTAGTCTTTAAATGAAAAAATTGATAGACAAACTATACATTAGATATGATTGAAGAAGACATGATAAATTGGTTATGTTATGAGACAAAAACAATAGTTTCAGATACTCCAACCTATTTCTAAAAGGATTTCTAGAAGTATAAAACAGAGAGAATGACAGAGAAGAGAAATTTGAAAAACTAATTCAGGAATTTTCCAGAATTGGAGAATGATGAGTTCTTGGATGAAAAGCATCTGCAAAGTACCAAAAATAATAAACAAAAGTAAATTAAAGAGGAAAATCTTCAAAGTTACCAGATAAAACATCAGATTTTCTTCCAAAGTAATCACCATGTTGACAGCGGACTTCTCATTCACAACACTAGATGTCAGAAGACAGTAAAATAATATATTCAAATTGATGAAGAAAAATAATTGTTAAACTTTATTGCCATCTAAAATAATTCAATAATGAAAGCAATAAGAGACTTTAGGAACCCAAAGACCACAAGAATTCACCACTCACATACAGCCTCAATGAAAGCAATATTGAAACATGTACTTCTGCAAAAAGTAAAGCCAGAGAGAAAGTAATGAACACCTAAAACAACAGTGAACCCCAAATTAACAAAATAATTTTAGTGTGTAATTTAACTTAAATTTAAGTAGCTTAAATATTGACTGTAAAATATGTTATGCTTAAGCTGAAAATCTAAACAGCAATAATTCAATTAGATATAATGTGTTAAAATTCATACTATGTTCAGTACTGAATACTTTAAGAATTTATTAGAAAGTTTTACACTTAATTACGCATTTAAAAGTAGATGGTAAAACACTAAAATGGATATACAATCCATAGCAGAAAAGGAGAAAAAGCAAAAAAAGGTAAAGAGAAAAAAATATAAAATGGGAATAATACCAAATATATGACTATTGTAAACATATTAATCCTACCAATTAAGAGAGATTATCAGACTGGGGAAAAAATAAAATCCAGTTAAATGTTACTTAAAGATATACATTTCAGTCGTGATCACGCAGATAATTTGAGAAGTGGAAAAATACAAGAAAGAAGAACTTAATGGTGAAAATGTCCTGTTTACATATCACAAGAGTAAATACTTAAAAAATGTCAGACTTTCCAAAATCAAATTTTAAAATTTAATGCAATTTCAACCAGTATCCCAAAGTGTGTTTTGTTTTTTTTTTTAATCTGTGGCACATGAGTTTGAGTTAGCATTTGCTCAAACTAGCTCAAAACTTAGTGGCTTAGAATACCAATTTATTATTTTCTCACAATTCTGTGGGTTGCCTAGTAGATCCTTTGCTGATTTACTCAGACCCACTCTGCATCTGCATTCGGCTAGATCAGTTAGAAGGGAAGGTCCATGCTGGCCTCATTCATATATATGGCAACTGGTGCTAGCTCAGTCCTTCACATGCCCTCTCATACTGTAGGTACCTCATACTGAGGTACCTCAGTCCTTCACATGCCCTCTCATACTGTAGTAGACTAGGAGAGCTTCCTTATATGGTGGTTTCAGTGCAGCATTTCTAGAAGGCAGAGCCTTTTAAAGCCTAGCTTCAGAAGTTGCTTAAAGTCCTACCACATTCTATTGGTCAAAGCAATTTAAAAGACCAGCCCAAGTTCAAGGGGTAGAAAAGAAACTCCACGTCCTGAAGGAAGCAGCAGCCAAGCTTACTTGGCAAAGGGGTGCATATTAGGAGGAGAGGAATGTTTGACCATATTTTTCACTGTGTCACACTATTATTATTGTTATCATTATTAAGCAATGGCAGTTGAGACAGTATGGTGCTGGTTTAGGGAACGACAGACTAATGTAACACAAAAAAAACAGTCCAGAAACAAACTTATGCCAGTATGGAAACTTGACACATGACAAAAGTGGAGTTGGTTACAAATTAGGGGCTTGGAAGGACTATTTGATAAATAATTCTGAAACAATTGCTCACTCATTTAGAAAATGATAAAATTTGATCCATACTTTATATTACAAATAAAAATTGACTCTGAAGGTTTAAAAAGTTACAGAAATAAAACTGAAAGAGAAGACTTTTAGAAACAAAACACAGGAAAATATCTACTCAGGATTTCTTTAGACACAAAAGAAGTAAAAGTCTTAAAGGAAAAAGCTGATAAATTTGCTACCCTGAAATTAAAGATACCATAGAAAGTGAAAACACAGGCCACAGACTAGGAAAAGATACTAGTATCTTGTATAACTGACAAAGGATTAGTACTTAAAACAGATAAAGGATGTTTATAGATCAATCTTTTAAAGAAAATGTCCATAGTAAGGAAAAGGTGGAGGTGGGCAAAAGATTTTAATAGGCAACTTAGATGAAGAGGAAACCTGAATGGCTAATAAACATAAGGAAAAGTACTTGTTCTTACTAGTAACTAGGAAATGAAATTAAGACCAAAATTTGATTCCATTTCATGCTCATCAGATTGACAGAATTTTTAAGTCTCAACAGACCAAGTATTGGCAAGATTGTAGCATAATGTAAATTCTTATATATGACAAGTAAGAGTATAGATTGATAGAGTTACTTTGGGGAATAATTTGTCAATATTAGGTAAAATTGAGATTGACCACACCTTCAACCTACCTAGAGAAATTCATGCAAATGTGTATAAGGAAGTACACAGCATGGTTATTGAGGTGTTTTTTTAATAATGGTAAACAGTTGGAAATATTCACCAGCAGAAAAATGGATAAATTGTTGTATATTAACAAAATGAAATGTGCAGCTGTTGGAAATGAAAGAACAAAATGGATGCACCTTAAAACCAATAATGAAGGAAAAGAGTAGGTTGCATGTTACCCTTTATATAGAGATTGGAAACATGAAAAACAATACTATTTATTGTTTATAGATACAGATAAAACTAAATTCAGGCCAGAATATTTTCAAAACTCTTCAAGTGACCTGTATATCCCATTAGTCATATAGTAGAAAGAATATTTAAGTATTAAATAATTATATTATCATCCCAGCTCTTTTACTAACAACAAAGTTACTTATCTTTTCCTTGCAACAGCAACCTTACTGTAAAATTCAAGTAATGAAATCATTCAAAACAATTGGTTAAGGGATTCTCTCCTAGCACCTAAACCATTCCCTGACTGTATGTTGCTGAAAATTATCTTCACTCTTCCAATTTAGTGTTCCCTTCATTCTGAATTCTATAGTTCTTTCATTTAGTATGTTAAAATTTGAAGGCACTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGAGGCGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGTGGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGATTCACTCCATTCTCCTGCCTCCGCCTCCAGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTAATTTTTTGCATTTTTAGTACAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCAGCCGGCACTGTACACTTTAAGTTTGTTTATATTTTGTACCAAGTTCAAATTATGATAATATAGATGTGGCTCTTAGGGCAAAGTGCCAGAAGAGCTATAAATGCCAAATACTGACTCTACATTTGTTACCTTTAGGATAGTCAGGCTAGATTAACTGCAGAAACTAAAAGAATGAAGAGTTTCAAAGAAGAAATATGAAGATAATAATACCAAAAGAACCGTGTTTTCATTTTCAGGATTTCTTATATCTACACCAAGGTTACCTTAAAGACATGAATTCTTTCTTCTCTTTAATTCTTCTTTCATATTCATATCACATGTCGTTTTTTTCATTACACTTTCTGAACTTTATTCTATTCCTTAAAAGGTGTCAGAATTCCAGGTTGGGAATACAATGTTTGCTCTCTAATTATGCTTTTCTCCCTTCCCTCATGGAGAAAGAATAACTTTTTGGCTTTTGCCACTGTAATTCTATTACACTAATGTCAAGACACCCGCAGTTGTATAACAGATGAGATTTATATGTAATTTCAAAAATATATTTGCTAAAAATGAGAAATCAGTCTCAAAGAAGTTGACAGTGAACACTAGTCCAGGCCTTACTGACTTTATTCTCAAAGTACCATAATCTTTGTTTTCATATATTTGGAATCGGTGAACACAATGGAAAGCATAGCTCTTAAGGTAGAATAGAGTAACCTCTGACATTTGCGACTTTAATGCATATTTTCATGACATATTTGTTTCCATGGCAGATCAGTGGCTTGTTACTAGAAGGATGTAGTTTTGATGGAAATCAACTTTCTGAAAATCAGCTTGATTCTCCCAGCGTGTCATCAGTGCTCCCTTGTTTTATGGGCTGGATTCCACAGGTAATACATTTTTAACAAGCACAAGTTTTAATTATATCAGTTCTCTCTTAGATTTTATCTTTTCAAGAAGACATTCTTGGCCTGTGTATTTTTGTTTGCTTTCTAATCTCACCTGCATTTGAACAAATTTGCAGTCAAAAGTACTTTATCCTTTATCATGTTTAAGATGCACAAGACATTTGAAAACCTTGATTTTGTTATAGAAAGAATAACATAGTATTAATTTCTGGAGAGTTTATAGCCTGGTAATAAAAAAGCCTTTAATGATAATAAGAACTACCATGTGTTGCATTCCTCTTATTTTCAGCAATGTGTGCTAGGTACTTTATATGCTTTACCTAAAATCCTCCTCAGAGCAGCCATGCAAGGCAGATATTATTATTCCCACTTTCAAATGAGGAAACGTGCTCACGCAGGTTAAATGACTTCTCGTAGTTAGCTACACAGAAAGTGATAGAATTAAGGTGTTAATAGATGTATGGCTTTGTATCACACAATGTCATTATGCAGCTGATAGGTGGATGAAGAAAACAATCTTAAAGACTTATTTAGTTAACTTTTTTCCTTTCAAAACCATTATTGAAAAAACTTTCAACAGTAGAACTTGGGGTATACATGTCTTTCAAATAGGACATAGTTGTAAAGAAGCACATAACTTTTTCTTAATAAAGTTTAAGAATGCACATATGACTACATGTGAATAAACTTTAAAGTTCTGATTGTGTATCTAATGAGCAACAAAACTATTTCATATATTGCTCACTACAAGAAAAATGAGCTTTCTCATTGGGAAATAATGCATTGAATTTTCCAGTTATTGTCATTCTCCTTATAAAATAAAAATCAAATGCACCAGAGTATTTATTTAAGGAAAATCTTAAAAAGCGATAGCAGTTAGCAACATTGCCAAGACAGCTATAAGAGTATCCTCTGACCTAAAAGAGCATATGTTTCTGTCAAAATTCCCTATTTTTCCCCCATATCAGCTTCATTTTCTCCAAAATTAGAGTGACTATAAGATAAAGGAGAGAGAAGAGACTGAAAGAATCAATGTTTACTTCAATCTTGCTGTTAATTCCTATAAGAATTTTCTACAAAAATTTGGTAAATTATGAATGACACATTTTTGTCTTAGCTGTGTAAATCAAATTGAAACTTATATACAAAAGTTAAGGTTGGAATTTGTCAAGTGTTGTGAATATAACATACAAAATTGTTTAGGATGGCAGAGATAAATTCCAACGAATTTAAATTATATAAACTGCTAATTCTCTGGAAAATAAAATCCATATAATGATCATGAGGAGGAAAAAAAAAAGTAGGGCAAGTATAAACAGGTTCACTTGAGGAAAAACCCAAACAATAAAAATAGAGCTTGAAGAGCAACTAAGAATAAATATAGGAGACAATGACCTGGAGCCATACCCACGTACTGAACGCAAATCAGGAATGCAGTGCTGTCATGGACAAAGCCAATCTGTTACTGGGTTGTATGAAAAGCAATGTGACTTTACAAGACTAGGAATTGATAGCTTGGCAATATTTTACTTTGTGTATTATTTCTATCCAGTTTTATTTGTCATACTTCTAAAAAGTCAGGATTGGAATAAAAAGCTAATTTAATTTGAAAAATAGCTCATATAAAGAGAGGTAAAATGAATAGAGCATTTATCCTATAGAAGAGATGACTAAAAGGTAATATGAACTTTTTACTCTTTTTCTTTTTATTATTATTCTTTAAGTTTTAGGGTACATGTGCACAACGTGCAGGTTTGTTACGTATGTATACATGTGCCATGTTGGTGTGCTGCACTCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCACCACCCCACAACAGTCCCTAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGGTGTTTGGTTTTATGTCCTTGCGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGACCCTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGCATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTAGGTTGATTCCAAGTCTTTGCTATTGTCAATAGTGCCGCTATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATATTTTTCTGTAAGATTTTCTCCTGGGCTTTTACACTTGTACATGACATGTAATGGAAGAATTTGTTAGTGCTTCCCCACCTCCTTTTTCCCCTTCTTTCTTTACAGTGAGCCTCCTCCTTGTCCTGTAATCATACTACTTTCAGAATGTCTGTCCCATATCAGCTAAGAAGGAAAGAACATGAGATCTACTGCTAAGTGTTTCAGAACACAAAATTCTCTAGTTCAGCAGACCTAAATTGTAATCCAAGTTTCCAAGCTTATGAATTAGGTGATTTAGATAAGGTACCTAACTTCACTGAGCCAGTTTCCTCATTTGAAAATGGACATAATAATGTTTCTGTAGGATCATGTTGAGGATTAAATATGTTTGTGTGTGTGTAAAGTACCTAGCACAGTGCTTCATACATGGTAAGTCAAATTTATCCTGTTGTCAATAATTTAAACTTTTATAATGCTATAATGTTTTATCTTATTTCATATGGTACTTTTTAGTTTACCAGTACTTTCACTCATTATTAAGTTATTGTTGAGTTTTTATATACCAGATGTTATGCTGAACCCTGGGGTTACGAAGATAAACAGATTTCTCCTGCAGAGTCTTCCGCCAACTGGGGAAGCAAATAAGCAAAGAGAGTGCTACAGTTCGGAATCATTAGTGCAATTAGAGAGGTTTATATAAAGTGCTTTGATAGATGAGGGAGGCTTCAACTCTACCATGTGTGAACAATGAGGGAAAGTCAGATGACCTCGCTGAGAGAGGTGGCAGCTTCTCTTGAACTGTTACTTGAACTTTAGTAATAACAGTTTAAGGACAAATTCAAAAAAGATAGGGTAACAAGGCATTCCAGACAGAAGTAGCAGCATATGTAAATATATGCAGATAGAAAAGAGCTTAGGATATTCTGGGAACAGCAAGTATTGTACATCTGGAGGGTATAGTTCATATGGAAGAATGGTGGGGGATGCGGCCAGAAAGGAAGGCCAAGACCAAGTATGAGAAGCTGAGTAGCCATGCCAGAGTTTAGACCACCTTATGATCAGTAGGAAGCCATCAAGAATTTAGAACAGGGCCAGGCACGGTGGCTCACACCTGTAATCCCATCACTTTGGGAGGCCAAGGCAGGAGAATCACTTGAGCCCAGGAGTTAGAGCCTGGCTTGGGCAACATAGCAAGACCCCATCTTTATTAAATAAAAAAAGAATTAAAAAAATTTTTTTTAAAGAATTGAGAACAGGAGTATGGTAAGATCAGATTTGTAGTTTTAGAAAATCGGTCTAGCAGTGAGTGGTTGGATAATAGATTGGCACACTGTGAGATACAATTATACTGGCGTCTCATAACAATCCTATGAGTTTGGTACAGCAAATTTTCTATTTTTCTGATGAAAGGACTGAGAATCAGGTAAGTTAAATGACTTATGAGTTCCACATTGGTAGCATTAGTGTCCAGACAATCATAGTGAACATTTATTTGCACTGATTACATACCAAGCACTATGCAAGGTGTTTCAAATACAAGATATTAAGCTTTAAAAAAAATTTTGAAATAGGAATTGTAATCTCCATTTTAAAGTAGAAAATGGAGGTTTAAAAGATTATGTATTATTATATGATAATAATAAAATTCAGAACTTTGGTAACTAAACTTTTTTTTTACACCAGAAGGAGGTTATTTCACAAATTATTTTCACAATATTATCTGACACCCAGTATCCCTGAGGAGCTTCGTTTCAACAGAAACTTGCCCACTAACCCAGTCATTTGCACAACATTGCTTTGAGTTAGGCTGCAGCTCCATTTTTCAGAGAACATTTTAGGTTGCAAAAGATTGAAGAACTTCAACATTGTTTCAGTATGTGGTGATACTTAAAAAAGGGTATCATCAACAAATTCTAAGACTTCTATTGGGGCATGAAGAGGAAGCTCTATCATTGCCTCTATTTGAAATGCAGTGTACTTTGTGAATTAACAAGATTGGAATGATGAATTCAAGGAAAAATGAAAATAAATAAAATGCTGATGAAATATTTTTCTAGTATTTCTGTTTACCATTATCTATGTACTAAGATAATATAACTGACATTCACACTATTTATTCATTCATGAAACAGATTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGCTCCATGATACAGATTCTTAAAGTTACTCCAGTTCCAGTTCGGTGCAGTATTTTTGGTTAAATTAATATTGGTTCAAATTAAGATATAGCTAGAGGATTTTACCCAGAAAGCATTAGCTTTTTCCAGTGCATTTCTTAACATGTTTCTATATATCATAATAATTCTCTATGAAAAATGATTCAGTAAACAAACTTAATAAACACAATATTCCCTCCCTTGGAAAGTCTTATATTAACATCTCTGAGAAGTCCCAAAGATTACTTACCACACAACCTTCTCATGCCCCTACACCCTATGCTCCATCAGGATCTAATATTCCACATAGTATGATTTGGTCAACACTGCTTTATGATGAAGACCAGTCTCAGTGATGCCCTTCTGGCATTCCACAGGAAGTCAGTTTGCCTTTGCTCTATCTTCCTGGAAATAATGCTCCTGAGAGTTTATCAGCCCCACAGTAACACAGTAGTCCTGAGCCAGCCTGAACCCATGAGGCTGGATCTTCTGATAGGCACAATTGACAATTCAGCTTCAGAAAAAAATTTATTCTCAGAGAAAATAGAACTATAAAATATTTACACAAGCTACTCAGGAAAACAATCATTACTTTATATTTTGTATAGATGTTAAAATATCACATATATCAGAAGATATGTGTTGAAAGTTCTGCCTTCTATACACTCTGGTTTAAAAATACCAAATATTTCACTAACATATTTTGTATGTTATTTTTTTTCTTCAAGGACTTATTATGAAAGTAATGATGTTATCACTATATTGTTGAAAAATCAGGGAAGTATATCTTTACCAATATACATTTTGAAACCTAGCTAGACATTCTTAACAGAACAAAGTCAGAGTATTCATTGGTGGCAAGCTGTTTTGTTTCCTATTTTGAGATTTTTTTCCCCCAGAATTGCATCACTGAATTGTGCTACTTGTACATACATTAGAACTCCGATTTCCTATCATTTCCTCTTCTAAAAAAGAACTGTTCATTGACTTGATTATAAACATTCAGAAAGCATGTGTTAAAATAAGTTGGACTGTGCATAGACTGATGAATATATTTTGTTTTGTCTTCATATGTGTTTTGTTATGAAATTTAATTGAAATTGGCCAAATAGCTAATATGAGTAACGTAATAATTTTGTTTTCATTGTTTGGTTTTGCTTTTCCTTGCTTTCTTTGGTTTGCAAACTAAGTGATATCTAATATGGTAGTCCCTCTGTATCTGCAATTTCAGTTACCCACAGTCAGCAAATAAATGAATATAGTACAATAGGTATTTTGAGAGAGAGAGACCATATTTGCATAACTTTATTATTGTGGTATTGTTACAATTATTCTATTTTATTATTATTTATGTTAATATCTTACTATACCTAATGTATAAATTAAACCTTATCCTAGATATGTATGTTTAGGAAGAAACATAGTATATATAGGGTTTGGCACCATCCGCAGTCTCAGGCATCCATTGGGGCCTTGGAATGTATTCCCCATGAATAAGAGGGGACTACTGAGTCACCATTTTGCCTTTGAAAATTGCATTGTCTTCTTTCAAATAGTAGTGTATTGCTTGCTATTTGTAGAATGTATGTTTTTAAGTCATTTTGCCCAAGGCATGGGCAAATTTTGTTGTGAGACATTCAGGCTTTTCTTGGACACTTTAGGAAAGCAGAAAAATTATGCAAGATGTTTATTCACATAAAACAATTTTTATTTATGAAAAGCTAATTGATTCAAATGAGTGTAAAATTTCAAATTTTAGCCTCATTATTGAACAGAACTGGACCAGTTTGTTTTAATAAAGATATGGTTTATGAACACATCAACCATTTTAGAGTAATCAATCACAATTTATAGATTTTGAATTACTGTAATTGCACAAAACTTTGGAGGAAATATAATGTGAATTATTTGAAGTCTTCCTAATATATCTCCTTTTCTGCATTAATTGAACACAGGGTGTTTGTTCATAGTTATTAATAAAATTTTAGTTTCATCCAAATACTTCAGCCCAACAGTGTCTTATGTTTTGCCTGTTAAAGATATTAAAGAGGGAATTGGGTCATAATAATTTAATTCAGTTAAGGAGTATTCAAAGAACTTCTATATACACAAAACATTGTGCTAATATAATAGTGAGAATGCCAAAAATACTTGTCCCTGCTTCTACTGTGAGCATTTATTTATTGGAGACTTAAGAGCAAGTGTATTTAACTTTTTTACAGAAGTAACATTTACCACTGAAGAGATTTTGAGAAGTGACAAAATATCAAGAAGCCACTGTATTGCTTTGCTTTAAAACACTGTAGGTTTTGAAAGAAAGATTTGTACCCTGGCTGTAAGACAAACAAAGCCTACAACTAAAAGATTTGGAAGAATTTGGAAATATATACAAAAACTAGTAAACTGTTAGTGAATATGCAAAAAATCAGCTTTAAGTTGATAATAATCAGCATTATTAAGTTCCTAATTTAAAGAGAAATAGTCTTTACATCGATATAGAGAAAATCTCCTGACTAGAAAGGAATAACATCGTAAAACATTTCATTGTGGTGTTTCTATTTCAGTTTTGATCATAGAAGTAATGGAAAACAAAGCAAATATCAGGTGTTGGAAAAAGATAATTTAAGACCTTTCCCAGGATTAAAAATAGGCAATCATAGATTCAGATCACTTCAGTCTAACAAATATGTGATCTTTGTCTGCTCTTTGCCAAAGAATGTAAAGGAATGCTTGCACTAGGCTTTACCTTTTAAGATCGGCTAAGGAGTCATGACAATTACAGGTTTTTATTCCTAAAGCTTTGCCATCTAAGCAGAATTGAACAAGAGGGAAGAGATTAGTCAGTGACTGATAAAAGTTGAAAATTCTCTTTATCCCAAATCCCACATTTTTTTTTCTGAAGTTCAACTAAGGATTTACTCTCTCCATGAATCACTGTTAGGTTAACATATCCCAGAGTAGCATTTTCTTTATTTTGATTTTCTGAAGTATATATTTTCCCAAAACTTATATTCTAGATATTTGATATGTGTGTATTTTGTTTCCTAAAGTAAAAATTCAAAGGAGATTATTTTCTCTATTTCTCTATGTACTGAAATGCTTAGCCTTTACAATTCTAGGCACAATATTAGCATATAAAGTGCTGTTAAATGAATAGCTGAATAACTGACAAGCTCATCAGTGCAAACAGATAATTAGAAAAATTTAGGACAGATGGTGTTTTTATCTATTTGGGAATCATTTTACCTAGAGAATATGTCTTGTTATATGTAAATCAGGTTAAGTTTTAAGAATGTTAGGAATGAATAATTTTTTGGGGGACATACTGATTTATATCAAGGGCCAGAAGAGTCAGAGCAGTTGTTGGTGTGTGGGTATGTGTGTGGGCGGCGGAGGGAGAGAGACAGAGAGAGGAGCAGGATTGGAAAAGATAATGTAAAGTTCATATAATGCCCACTTAGGCTTAAAAGTAGAATGTCTTAATTTTCTGTGAAAGAAAATTATTTTACTGCTATCATAACACCATTTAAGAGATGTAGTAGCTGCCAAAAAGCTGATTTTTTCTAGTCGATTTGAGAATTAGCAGGGAATAAGGAAAAGGCAGTCCAAAGAATCAGAGACATGTGGATAAATAATACTTATATCTGGAGCTCTTTAATATGACATCTGATTCTTTCCACATCCTGTGAGGTGGGTAAGTGTCATTTGTCTTTCTATAATAGTGAAACTGATGTTCGGAGAGTAACCTCTACAGGGTCAGGAGCTCCTAGACAAGTACTCCAGAGCCTGAAAATAATTTATTTCCATAAATGTTATTGTGTTCTATTTTGCAAAGTAACAGAATAAGAGACATTAGTTGCTAACATTCATATACTAGAGTGTTTTGTCAACTGTAGTATCTGTGACAACTTTGCCACTTCCTAACTAGGCTACCATGGGTAAATTCTCTGTGGGCTTCTGAAGTGTCACTTTTGTAATATTTTAAAATGGGTCTAGCTTGCCTCTTAAGTTCCATTCCAACTCTGCAAAGTAATAATTAATTGAATAAAATCATATAAATTCAGTAAAAATGCTAATCCTATATTTGAATTGGAAATACAATTATGAACTCATGATGTTTTTCTTTTAAAAATACATGATTTCTAAGCTCCAGTCACTAAAACATCCTAGAATTAAAATTATCAATTGGCCGGATGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCACACGTATCACGAGGTCAGGAGATGGAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAAGTGCCCAGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAGTGGAATGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAAATTACGCCACTGCACTCCAGCCGGGGCGACAGAGCAAGACTCCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGATCAATTATTCCTAGCACCCAAATTATGGTCTCTAATACCATTTCTCTTGAAAGAAACTAGGAATCATCAGATTAATGACTAATTTCCAGGGCAGGAAATATAAAAGATGAACTTGTATAATAATACCTGTCATACTAGAAAGGCAGTGAAACTACTGAAGAGACAACTGGGGACGTATCAAAACTCAGGAGCCAACTTAAAAAGTTCCCCTGAGCGAAGACTGACAATTTGAACACCAATGCAGTAGCGATTGCATTGCATTAAAGCACATCATATATGTTTAAACCCACCAGTTCATAATACCATTTTTTAAAAAGAAGGGGTGGTCATTGATCACCTTTGGAGTGTGCTAGGAAACATTCACTGTTTTGAAAACACATAAAGGGAAATAGGCATTTATCTAGTTTTTCTTATATGAACTGCACCTCATGGTAATAAAAAAATTGATAAGTGGAAGTTTCTCTTTATAGATATATTCCTGCTTGGAATAAGGAATGATAGATTACCCCTTGTGTAACCTTGAATGAAAAGTGATTATCAGTGGCCTCTAATAGCCAAAAAAGAGAGACAACCAGACATATGCTGCTTGATGGAAACATCTAGTACCACCTATGCGGTATTTTCCAAACATTGAGTCTGAGCTCACCTCTAGATCCAGTTTATAGGAATACAAGGAACAGACAGAGCAACGTGATACCATGGGAACGTAACCCAAAAAAGAATATGGGAAACTATTTGGTATAGTTTCTTCTGCAAACAAATTGCTAGGAAAAGAGGAGGAAAAGCTTACAGATTTAGGAGACTTAAGAGACATTTCAACAAACTGCAAAGCATAGGCTTCATTTAAATTATGATTCTAACAGAAAAACTCTTTAAAACAGGAGATGAGATAATGGATGTGTGATGATATTAAGGAATTATTGGTAGTTTTCTACTGTGTGATAATACATGGTTCTATTTTATTTATAGAGATATATATGTAAATATTTATAGGTGAAATTTTGTAATTGTAAGGTGCTGTTCAAAATACTCCAATGTTTGGGGCTAGGGAGAGGTTGTAAATAAAACACGATAGGCCATGTGTTTCATTTTGTTGCAGGGGGATGATAGGGGTTCATCATATTAATTTGAAACATTTCATAATATAATATTAATATGTTTGTTTCCTTGGTTATCTAATAATCTGTTTCCAAATAGTGTATTGCTTTATTTTAAAACAAGTTATTTTTTAAACAGGATGCATGTGGTCCATATTCTCCGGATGAGTGCATCTCTTTGCCTGTTTACACAAGTGCTGAAAGGGATCGTGTGGTTACCAATATTGATGTTCCATGTGGGGGCAACCAAGACCAGTGGATTCAGTGTGGAGCAGCTCTATTCCTAAAAAATCAGTAGAATCTAATGACAACAAAAGCCATCTTCACAAAAGGGAACATTGATTCTTTAAGCTTTAAATCAAACATGTGGTCAGTCTACATTTGAAATGTTAGTTCAAAATATTAACATATAGTTATGTTGTTGATGTCACTGAAATTTTAATGTGTAAAAGCAGCACTGTGCATCTTTTAAAGTAATAAATTAATGGAGTTATTGTTAAAACAGAGTATTCTTTTGACAACATTAAATATTTCTGTGAGAAAGTTCACTTTTCCAGTGGCTCAAAAATTTGTTTTAGGTCAGAGATTTTAAGTGGTATATTAACCAATAATAAATATTTTGGCTGTCATTTGTGTCATAATTATTTAATAAAAGAGCATTCATAATTTTTGCAGTCTTCCCATGACTCTTTTTACATACTGAAGAATGTATTATAAAGTTATAATGAATGTATAAAAGTATCAACATGAATATAATTATACTATGCTAATTATAATATACAAATATATAATTATTGTCATAATTATATACTTATAACTAATATCTTAAGGTAATTCAAATAGGAATAATTCAGGTGACATAATAATGGAGGATAAATTCTGGTTATTAAACATTCAGCTTTTTTGTGTTTTTGTTGTTGTTTTTTGAGACAGGGTCTCACTCTGTTGCCCAGGATAGAGTGCCGTGATGCAATCACGGCTCACTGCAGCCTCAACCTCATAGACTCAATCTATCCTCCTATCTCAGCCTCCTCGTAGCTGGGACTACAGGATACACCACACTGCCTGGCTAATTTCTTTATTTTTTTTGTAGAGATGGGGTTTCGCCATGTTTCCCAGGCTGGTCTCAAACTCCTGCACTCAAGTGATCCACCTGCCTTAGCCTCCCAGAGTGCTAAGATTATAAGCGTGAACCACCACACCTGGCCTGTATTTTTTATAAGAGCTATTACTTTAGCTCTGCAAGATTCACCAAAATCTAAGGAACCAAAAATACTGTTCAGTTGAGTGACAGACATTTTAGTATCCTATGAAGTTTTTTGCAGCTCTATTCTTGCAGCAAACAAATTCTAAGAGCTGAGGCTTATATTTTTGATAGTTATTTAAAAAGTCATATCAATGAAAAGTTATATATTTAGAGGAGAAACAAGATAAAATGGAAAACATTTTTAGAAAAATATATTTAAATATGTACTTTAAAGGAATATATTTAAATGTATATATTTAAATATATTCTTTTAAAAATATGTTTATAGGGCTTGCTGTTGACATTACAAGATCAGCTAGGAAGGGAAAAGCATGGACGAATACACATGGAACGTTTTTGTGGGCCGTGTCTGGAAATGTCACGCATCATTATGTTTACATTCCATTAGAGAGAACTTAATTACATGGGTATACATAATGTCTAGGGTGGCTGGGAAATGTAGTCAGCTGGGTGCTCAAAAACAGAAGAGGATGGAGGGCTAGCTAGCTCTTTCTACCACATCCCCATCCAGTGAAAAATTTTAATTCATTACAGAAATGTATTCAGTACAATGACATAAAATTACTTAATAAAGCAGCATAGGTCTTTAATATGATGCAAACCTCATGTTTATGAATTTTTGCATTAATATTCAGCAAAATAAGCCAGATACTGGCCAGATTCCAGAAATATGAAGATAGATAATACAGTCCCTGCTCTTCAGAGATTTAAAAGCTGATCGGACAGTGAAATATGTAAAAACAGTCTCCACACTGTAAATGTTTTAATCTGATATTAATATTGCTATACCACCAGCTTTTTTGGTTAAATTTGGGAAACAATACATTAAAAATGCCCACATAGAGACAAATCATAGCACAATGAAATAAGAGTTACGTGGCACGGTAGCAAAGGGCCGTGGGATTCCAGGGGAAGGAGTAACTAATCAAAAATTATTAGTAACAGTAGGCTTCTTTTTCTCTTTTTAAAAAAACTTACTTTGAAAATATTTTACAAAGAATAAATTAATTGCCTTCCTCAAATGAACAAATATTAGATGTTACGGTGTTTGCTTTAGATTTTTTTTTAAATATCAAATTTTAAAAATTGTTTCAAAATCAGAGTCCTTCACATTCCCTTCAGCAGAACTTACATTTCTTCCTCCAAAGAGACACCCACTAACCTGTATTTGTTACCTACACAGTACATGTTTTTAATATATAACCAAAAATAAGGGGAATTTTTTTTAATTAATGGGAGCTGCAAGGAGCCTCTCTAAAGCTTCAGAAGGACACAGTATGTGAGGTTCTTAATCCATTAGAAGCAACGAACGATAGTTTTCAGTCCTCAGAGACCACAGATGTTGGAATGGCCCCAAACAAAATACATCATAGCCATGTATTTGGTAAATTCAATATGACAATTTGCAAAATAAAAATCTTGGCTAGCCAGGAATTGAAGGGACTTTTCACAAATAATGGATATCTATGAAAAACCTATAGTAAAGATCATTTTTAATGAGGAAACAGGGTATTCACTTTAAAATGAACAAGACAAAGCTCATCACTTCTATTCTACACTGTTTGGAGGTCCTAGACAGCACAGAATGACAAGAAAAAGGCAGAATTGAAAAGGCAAAGACAAATACAAAAAAATACGTTCAAGGAGAAGAAAATATCAGCATTCACATACTTCTTCCCATCAGCCCTTTGCGCAGCTTTCGATTTTGGCAAGCTCACACATGTATACATCAAAATAAAAATTTTAAAGGGAAGGAGCTGAAATTTAACTCCCTGTGTTAAATATTCCTAACCAATAATTATTTGGGGGTTTTATTCGTTATGCTGAGACCTTCTGCTATAATTTCTGAAAAAGATATGAAGACTAAAGAAAATAAAATTCACTCCAGTTACTTGGGGGCATCTTCTTCCATGTTATTTCTATGTATTTACTTCCATTGTGTCAAAGTCTGGATGAGTTATCATTTCCCACCTATCTTAGGAAGCTGTGAGCACAAAAGAGCTCTGTCAGGAAGGCGGCTACAGAGCACGCAAAGTGCGAGACTGCATTTGACCTTTGGGAGACACACAAAAAGAAAACAGTACTATAATACGAAGAATATTTAATTCAAGAAAAATCAGTCATTTCACCTCAATTTTGACCCTCTTACACACTAAGCATCTTAAGAGCAGGAAGTATACATTTCATGTTTTTGTTTATGGCACTTGCTTTTACTGGAGCTCAACACACATTTATTGAGTCAGTGACTAAAAATTGTTTCCAGACAACTTAATCATCAGATTTGTCTCCCAATGATTTTAGATTGCTCCCAGAATCAAACCCATCCTTAAAGAATGAGTACATTTCCATCATTGAGGATAGTTGGAGAAGGCTTTCTTCAAAGGTTCTCATGGAAACTTGTAAAAGAAATTTCAAACATCTCAGCAAGGTTGACATCATTGGACTGCGCCTCCATGTGATCACTTTGAAGAAAACAAATCCTTTGGTTGTATAGTCCTTCAATCAAAAAATCTTTGGGGGCCGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCGAGACCGTACTAGCTAACACGGTGAAACCCAGTCTCTACTAAAAATACAAAAACATTAGCCGGGTGTGGTGGCTGGCGCCTATAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAACCTGGGCGACAGGGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTTTGGAAATGAAAAGGATCTTAGAGATTGGCTGGGTTTCTGTTTTATTTTTACTTTACAGCCACACCTTCCTAAATGCTCACAAGTCATGCCTTGTAAACTTAACATTTTAACTAGGAGAAAAATCAATTATCAGAGAAAGTTTCATGGAAGAGGTGGACTTCATGCTGGACCATCAGGGAATCTATAAGGAGTGGACGTGTACCTACCAGGGTCCAAAAGCTCAAACCAGTCCACCTCAGTACATCTGCTACCATATATTAAGACTGCAAATTTCACACTGAAAAATAAATGTGCTCCAATAGTTAAGTTATCAATGGAAGGACAGGAAAAATAAACCCAATCTAAGCGGAGAGAAAAAGTAAGCTTACTGAGAACAACTGTATACCTACAGTGATATTTTCCATGTATGTAAACATGGCTATCAGCTATTTGTTTTTCAAAAATAAAGAGAAAAACAAGTATCAACCAAAATATTATGCATAACCATTATAAATTCTGATTATACTGTGCCTAAATTTTCCTTCCCCTTTTTTAGTTCCTGAACACCGTTTCCGAAGGGATTAAGGCAATAGAAACCTAATAAGATAAAAGCAGAGACAAGAAGGTGGAATGTGTTAAGAATCAACACAATAGATAGAAAGATGGTCTTCAATTTCTCCCTGTTTTCGAAAGTGTATTATTTATTGTTTAGCAAAGTAAGAATAAAGAATAAAACCATGTTTAAGTTTTATGGGAAAATTACAAAGTAATGAACACACCAACTTAAACCACATAGAAAAAAATAATGGAATCAAATTACAGCCTAAATGCAAAATTTGATTATTAAAGTCAGTGACACCTGACTTTTAGAAGTTAGCTTCGTTTCCATTTGAAATTAATCACTATTAAAATAGGAATTTATGCGAATGTAACTGATTCTACTAGCAATGGCGATATGCTTAACAATGGGGTGGCTGCTCACTGATTTTTAATTTAAAGATGCTTCCCTGCATGTAAAGCACAACTCTATGTTAGTTACTGCTGCTTGTCTCCCAGTGCCCATTCTCCCCTACCACCACAGTCAGAAAACTTATAATGTTTAACTGAACAAATGCATACTCAGAATAAAAACTGAAATTCCTTATCTCCCTTACATTCAAGTGTGGCCATGTGACTCATTCTGTCAAAGAATGTGAGCACAAATATCCTATGGCAGCTTCCAGGGTCATTCTTTATAGGATGTGGCCCATATACCATTTTCTTTCATCTTCATCTCCTCTACTCTGCTGCCTGCAACACTACCATCTTGGACCTCAGTCTCTGAGGACTTTGTCAAACAGATACCACCCTGGACTATTTAACTCTGAATTTCATTTATACAAGAGAGATTTTTCAACCTTAGATGGGGTGGATAAATGCCAGCTGGCTGGTGGTGTGGACAGACAAGATCTACAGCCCTCAGACAGTCCCTCCAAAGCCAAGGACGAGACCCAAATATTCCAACTGAACTAGGAACCCTAAGTTAGAGGCACTTTCAACCTGTGCTCTCTAATACAAGTCCCACTTGGCAAGGGAAAGCAATAATTGTAAACAAAACGGTCTCTCCAGGAACACCGTGTGCACCTTTGGGATGGTACTTTTTACATGGAAGCCAGTCATTAACCTGCCTCCCTCCCAAAACACTTCCACCTTATAGATGGTCACAGGAGAGCTGCAAGTGTTTAAAGTACCACCAGGAGGTCATTTCTCCCTTAGACCATTTCAGAGATCTCTCCAAAATGAATCTACCATTGGTTACTTGGTAGAGGTTCGCAAAATAACTGCTTCATTATTTATGTGCCCCTTGTGAGCAGCTTTCCCTGTAACTAAGTCATCCAATTCAAATAGATGGTATGAAATTTGTTCTTGATTTCAGCTGAAGTGATCAATGACACCACCTCAGCCCTGGAAGGCACTCAGTTCAGCTCCAACTCACTGTCTGTGGTTGTTTTGCTATATTTGTGATTCTGGGATAAGCATCTCTGAGATAAATTCTATTTGGTCTTAATATGATAATTTAGGCCGGGCGTGGTGGCTCACACCTGTAATCCTAGCACTTTGGAAGGCCAAGGCAGGCGGATCATGAGATCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCAGTGGTGGGCGCCCGTGGTCCGAACTACTCGGGAGGCCGAGGAAGGAGAATGGTGTGAACCCAGGAGACAGAGCTTGCAGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAGAAGATAATTTAAAAAGAAAATGTTTATAACAAAATGTTAGAAAAAATATTTTGTACTATGTAATACAATATTACTATGTATTACTATGTAATACAAATATTATATTTGTGAATATATGTATGTATGTAGTATGTATCTCAAATTAGAAAGTGGTACTTTAAAATATTAAATGTTCATTATTTCTGAATAGAGAGATGATAGGTAATTTTTTATTTTGGGCAAATTTTTACATTTTTCAAATGCTGTAATGAGGATGTATTGCTTTTATAACCCAAACAAAACACTAGTTTTTAAAAATTAAAGTAAATATAAGCTTAAAAAGAGCCCATCAAAGTTAGCTTTTCACGTTTCAAGACACTTCCCTTCAGAGTTTCTTTATTTGCAAACTTTTCAACGTATTTGTAGCTTGAATTGCTATTGAAGATGTTAATATACCTCAGCTCTTTGTAACTTCCAGTAAGGGTTTATTGGCATTTATACATAAGAGACATTTGATACAATTATCTTAGACCCAAAAGCAAACATGGCACTTCTAACTTGGCACATAGCTGCAATCAGAAATGTCTGCAATTTCACAGTTTAATATCTATAATAATGAGGAAACTGGTGAGTCAGCTCTTATATTGAGGCAAGAACCCTAGACTTGGAGTTAGGTCAGCAGCCTGCCAGTCTTAAGCTAGGCCCATCACTTTTGTTGTTCCTTCTGCATTTAGTTTTGTTTATGTATAAAATGTGGATTATAATTCTCATTTCCAAGTGCGATTTGAAGATCAAATGAAATTTAAGGTAGTGTTATATCTTCTTCATGGGACTGATGCAAATGTAAAAGCTAAGATTTAAAAAAATTATAAATCACAATTTTGTATAAAATACTATTTAGAAATAAAAATTTAAGTTGAGAACTTTTAAATTACCATGTTCTCAAGCCTTACATTATCTAGTTTATGATTATGTTTCTAGTGTTAAAGATCCACTTTGTTTTCATAAGATGAACTACAGTTTATTCAAATAGCTGCCATTTGTAGAATTTTGTTCAAAATCAATACTCTGTATATGACCAATAATAATGATGATGGCTTATATAGTTCTTATTGCATGCTGACATTGGCATTGCTGCAAGCAACTGATAGGTAGATACATACATGTTTATCACCACTCACCTCGTTATGTCCATTCCATTGATGAGAAAACTAAGACAGATTACATAGCTAATAAATTGGCAAAGTGGCAAGAAAGAAAACTCTCTTTCAGCGCCCCCCCCCCCCACCCAGGAAAGAGCAAAGCGAGCAAAACGGAATTCTCTAACATATATCATTTGGAAGTTAGTATGCTAAAAGGAATGAGCAGGATTATTCCAGAACCACAAGTTGATCAATTCTTCATCTTGACAAATATTTAGTACAGCAGTGCTTCTGGCAAGAAGATAAAATGAATTGACAGTGCTAGTCAAAATACTTGTTACATTACATATTTTCATTGAAGAGTCACCTCTATAAAACTTAGGAAGATAATATGGGGGAGGAATGCTTTGAATTGTGAACTTAGCTCTCAGAACTATCAACTTAGCTTCCTTCACTGCAAACACGCAGCGCTCTCTGCATGCACAGGACTATCCCAGGGGCCTTGAGGGCTCTCAGATACCCTCATTCTTCACTGTATTATTTATAAAGAACACTGTAAAATATTTCAAACAGACAGATATGTGTAGTGGATATATATACTATAAAGAGTAATATAATGAACACTTGTACCTAGCATGCCGCTGAAGAGAGCTTTACCAACAAATACCGTTTAAACTGCCTGATGTATTTTCAGTATCTCATTTCCCATTCTCCACCCAGAGGCAACAATTACGCTGAATTTGGTTTGCTTAATTCCCATGGTTTGATGGTTATTTTTATGTGTCAACTCAACTGGGCTAACGGCTACCCAGATAGCTGGTAAAACATCATTTCTGGGTTTGTCTGTGAGGGTGCATCTGGAAGAGATTTACATTTGAATCAGTAAACTGAATAAAGATCTGCCTCTACCAGCATGAGTGGGCCTCATTTAATTTGTTAAGGGCCCAAGCAGTACAGGAAGGCAGAGGGAGGGTGAATTTTCTTTCTTTGCTGGAGCTGGGCCATTCATCTTTTCCTGCCCTTGAACACTGGAGCTTCCTTGGTTTTCAGGCCTTCACACTCCAGGACTTAAACTAGTCTGTTCCTCTTCCCCTAGTTTCTGGCCTTGGACTGAATTATACCACTGGCTTTCCTGGTTCTCCAACTTGCAGATGGCATATTGTGGGACTTCTTGGGGTCCATAATGTCATGAGCCAATTCCCATAATCCTCTCTTACATCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATATCCTATTGGTTCTGTTTCTCTAGAGAACCCTAATACACCTGGGGAGTGGGTTCTTTCTAGTTTTTCTGAATATGAATGAATCCCTAGACCATATTCTTCTACTTGACAAATATTTGCTTTTAATCTTAGACAGGCCCCATTAAGACAAGAATAATACAGGGTGTTTGTGCCTAGAATATTCTAGACAGCAGTTTCACATAACTAGCAAAACGGAAACTGTTGAAATAGCTGCATAAGATAGGAACTAATAAGACCCTGAAAAACAGGATGTGGGTCAAGCTGGCTAAGACCAACTGGGCCCAACATGGCACTGGATTTGAGCTAGGTTTCACCTAGGACCTCATTATACACAAATTAACATACTCAACCACACACCCATCAGCACCATGACAGTTTCAGGAACACCCATATTTGGTGTAAAAATGTGTGACACCACAGCTCTGAGAAATCTTTACCTTCTTCCAGAAATCTTCATGAATATTCCATTCCTTGGTTAAAGCAACCCATAGACAGAAACCTCAAACCCTATTGTGCATGACTCACTCTCCTGAGTACACCTACAATCCCCTTTCTTGAGTGTGTACTTTAACTTGGCAATAAATCTCCATACTTTCACCATTTTCTGACTAGTCCTTAAATTCCTTCTTGAGACAGTGTCAAGATCCTGGACACTGGCCAGGGTTGAGGTCCTACCAGCATCTGGGTACCTTGTCTAGCCCACTGGTATCACTATCATGTTTGTATGGTTTTTATTTTTATGTAAATTATGTCTTGCTGTACATATTTTATGACTCTTTTTTTCTGTATGAACATATGAATTGACCACAATTTATCCAGTTTTCTCTTGATGAATATTTGAATTGTTCTAGTTTCTTACTACTACAAACTATGTGGCTGTAAACAGTAAGTTTCCTGACATGCATTTACAAGACTTCCTGCAGGGGTCCCCAACTCGCAGACCATGGACACATACAGGTCTATTAGGAGCCGAGCTACACAGAAAGAGGTGAGCAGCAGGTGAGTGAGCATTACCAGCTGAGCTCTGCCTCCTGTCAGATCAGCTGCAACATTAGGTTCTCATAGGAGCATGAACCCTACTGTGAACTGCACCTCTGAGGGGTCTAGGTTGTGTGTTCCTTATGAGAATCTAATTCCTGATGATCTGAGGTGGAACAGTTTCATCTGAAAACCACCAATCCGTCCCCCACCCCTTAGCCCCAATCCATGGAAAAATTATCTTCCACGAAACTGGTTCCTGGTGCCAAAAAGTTTGGGGACCACTGCTCTAGGGTATATACCTAGTAGTGGAATCATGGAATCTCCTGTAGGAAAACTGTCAATTTAATTAGATTACAGTAAAAATTTTCCATGTGGTTAAATGAGTTAACATATATAAAGTACTTGAAAGAGTACCTAGCACTGGTAAGCACTGTAATCATAACAAGATTTGAGTATGAACCAATTCATAGTCCCACCAACAGTTTATATGAGTTCTTATCATTCTGCATCCTCATCAATACTTATATTTCTGCAAATCTGGGGCATAAAATGGCATCACATTTACTTTGCATTTTCCCAATTAAAGATAAGCAATTTTTAATGTTTATTGTCCATTTGTGACTTTGTAACCACCCAGTGGGTTCTTCCTGTCCACTGCACAGATGAAACCAATTCACTGTGACCATGGCATTGCAATAAAGAAAGAGTTAATTGACATGAGGCTGGACATGCCACATGGAAGATGGTATTATTAATCAAATTAGTCTTCCCCAAAATTCAAAGGCTAGGGTTTTTCAAGAATAGTTTGATAGGCCAGGGAGTCCACTTCTGGGTGGGGCCACAGGACTGATTTGGGGGTCCGGGTGGAGCCATTGTTCACTGGAAGTGTAAAATCCTGAAAAGACATCTCAAAAGGCCAATCTTAGGTCCCACAGTAACAATGTCATCTGTAGGAGTAATTGGGGAAGATACATATCTTGTGACCTCCAAAATAATGACTAGTGATTATTTATGTCTACAGCTTAGCAGAATTCAAGCTCCTCCTCTCTCTAAACTTGTCATCTTTCATTAGCTTTACAAAGGCAGTTTAGTTTTGGGAAACGTCTATTATTTAAACTATAAACTAAATGTATCTTAAAGTTAGCTTGGCCTAAGCCCAGTGATGATTAAAGAAAGTTTGAAGGTTAAAGGCAAGATTGGGGTTGATTAGATCAGATCTCTTTCACTGTCATAATTTTCTCACTGTCATGATTTTTGCAAAGGTGGTTTTAATTTTTGTCTGTGAAGTGCTATTACCTTTTGCCCTATTTTTTCTGTTATCTTTTTCTGATTTTTAGGAATTAATCATCCTTATATATTTGTAGAGTAGTGCACTGTCAATTATATGTTTTATAAAATACACATTCCCAGTTTAGGGCTTGTCTTTTTTTATGTTGTCTTGTGATGAATAAAAGCTTTAAACTCAAATGCAGAATGTGCCAACCTTTCCTTTTTGGCTTGTGTTTTCCCAACAAAAGTTCATTACGATATACATGTTTTTTCTTACAGATTTAAAGTTTTAGAATGATTCTAAAAAGTAACCTTAAGTCAGATAAAGCCACATGTAAATCTAAAATTCAGTTGCGTGTCATTTTTGATATCTGTAAAAGTTACACAGTCCAAGAAAATGAAAGAATGGACACAGGATTATTTGGTGCTGCTTCACTAGCTGGAGACCTCCACAACTGGCAATGTCCTTGCCCGGGCCTTGTTTGGCCCTGGGGTTGCCACTGGAAATACCCCACCCACTGAGCCCAAAAGGCTGCCCTTGGCTTGCACTCCATCCCAGATCCTGCTCTCACCATGGGGTTTGCACTCAGCCTCCAGCTAGGTTGGGTGTGCTGTGACCTGCTTCTGCTTTGGGTACCAACATCTGGATGAGGGGAACATGGTGGCTATCAAAAAACTTGGAGACACCAGCAACTCTGAAGCCCCAAAGGGGGTGTTACAGTGTGTTAACAGCTCTTTCAGTCCCACTGTCTGCAGCCTGATGAATGGGGGCATGTGGCACCCAGTGGCTCCCTCTCCCATTGCTTGGCAAGTGGGAGAGACGTGCTACAGGGTTACAGCTCTGTTCACACTCGCCATTCTGTGGGTCTCGAGTTCTTGTCCCATTTCTAAGAAGAATGAGGTTATCTGGCAGCTGGCGGGTGAGCAAGGCAAATAATTTTGAGTGATGAAACAGCTCTCAGTAGAAAGGGGGACCCAAGTTTGGCAGTTCCCTACCCGAAGTTGGGTATTCTCCTCTTCCCAAAGGTGAGCAGTCCCAAAGTGTGGCTGAGTTTGGGGCTTTTATGGGCTCAGAATGCGGGAGTGCATGCTGACTGGTTTGTGAGTAAGCCAAAAAGGCTAAAAAAAAAAAAGGCACCACTGAAAGATGGGCACAACAGTATTGAAAACCAATTAGGGAAGGGTAGGTCTATGTAAAATAGGTGAAGGGTGGGGATCAATCAGAGGAAAGCATGCCAAATGGGAAGAGAACTTCTCAATCTGGTCTGTGGATTTATCCGAGACTTGTGGCTTGGTTTTCAGGCTTTAAACTGTCTTTGGCTTGAAGGTCAGGTTTCACTGGGGACCTTCATCAGAATGAAGAGTCCATTTTTGAGGGAAAACAAGTTTTTTCTTCCTACTCTCACATTCAGCACAGGACTCTTCTTTGGCCAGATGTGTCGGGGGGTTTTCTTCCCACACCAAGTAATTCTTTGTGGACATCAAATAGTTGTGCCCTATACTTTATTTCAATTCAATTTGATTCTGATACTGTCTACCTAGAGATAGTTACAGGTTGTAACCTGTGCATCTGACTAACCTGCTATAAATTGGGGTTTCCATGACCCCCTCCTGCCCCTTGACCTTAATAATGTGCTAGGGTGGCTCCCAGAACTTGGGAACACTTTACTTATAATCACCAGTTTATTATAAAGGATACAGATGAACAGCCAGATGAAACGATGGATAAGTCAAGGTGTGGGGGGAGGGTGCAGAGCTTCCCTGCCCTCTTTCTGTGCCACCCTCCCAGCACCTCCACGTGCTCAGCAACCTAAAGGCTTGCCAAATCATGTTGAAGAGTTTTTATAGAGCTTGTTTTTCAGTGCTGACCAACCCCCACTGGGTGGTGCTGAAAGTTTCAAGCCTCTAATCCTCCAATCACTGTCTTTCTAGTGACTGGATTCTTCCTGAGGCTATCTAGGAATGCCACACTAAGTCATGTCATTAACATCAACTCCAGTGTGATCTGAAAGAAGCTCATTCTGAATAACAAAAGACATTCCTATCACTCAGGAAATTCTAAGGGTTTTAGGTACTTTGTGACAGGAACCTCAGACAAAGACCAAATATATTTCATATTATACTACACCATTAATTTCTATTAAAGTAGAAAAACTCTAATGAGCTCCAAGCAGAATTTTAAATGCCAAGCAGGAAAATTCATACTGAAGGGGAGAAAATATAATTTCTTTTTCAACCCTCATAAATTCTTAGTTGAGACACTCTCCTGAAAATTCAGATTAACAAAAGAAAAACCAGCAGAGGTTTACTGATGTGTGCTGTACACACGACATGGGAGAGGCCTCAGTTCAAAAGCATCTCTCAAGGTTTAAGAGACTTGCTTAAATAGTATTTTAACAAAGAACCATAAATCCTATAAAAACAAAACAAAGGAGAATGCAGTTCCAGACTTGTAAAAGGTGGGAAAATGTGGGAAGGTAGTAGAATCTGTCCCAGTGTTAAAAAGTTTAGCCTAAAGCCTCCTCTTTATGAAACTGCCATCGCAAAACTGTAACTGAGATAGTCAAAGAGATCTGACCTACCAGCTCCATCTTACTTCTAACTTTCAAGCTGTCCTTGTTCATTCCTGGGTGTAGGCTGAACTAACTTTGGGAGAAACTTAGTTTATAGTTTAAAATGTAACCTCCCAATGGGCTCACCTTGCCTGCTGCCTAGACAGAATTGATTTATCAAGACAGGGGAATTGCAATAAAGAAAGAGTAATTCATGCAGAGCTGGCTGTGCGGGAGACCGGAGTTTTATCATTACTCAAATCAGTCTTTCCGAGCATTCGGGGATCAGAGTTTTTAAAGATAATTTGGTGGGTAGGGGCTTGGTAAGTGAGGAGTGCTGTTTGATCAGGTTGAAGATGGAATCACAGGGGGTCAAAGTTAGGTTCTCTTAATGTCTCCTGTTCCTGGGCATGACGGTGGAACTGGTTGGGCCAGATTACCGGTCTGGGTATCAGCTGATCCATCAAGCACAGGGTCTGCAAAATATCTGAAGCGCTGATCTTAGGTTTTACAAAGGTGATGTTATCCTCAGGAGCAATCGAGGTGGTTCAGACTCTTGGAGCTAGAGGCTGCATGACCCCTAAACCGTAATTTCCAAACTTGTCGCTAATTTGTTAGTCCTGCAAAGGCAGACTGGACCCCAGGTAAGAAGGGGGTCTTTTCGGGACTAAATTTGTTTCAGAGTCAAACGATGAACTGAATTCCTTCCCAAAGTTAGTTCGGCCTATGCCCAGGAATAAACAAGGACAGCTTAAGGGTTAGAAGATAGAGTCGGTTAGGTCTGATTTCTTTCATTATCATAATTTCCTGAGTTACAATTTTGCAAAGTCGGTTTCAAAAATAAAGAGGACAACGGCCCTTTCCCATAACAAACCCCCTCTTGCCTGGGGACTAGACTGCCTTTGTGGAACAAAGTAGCCAAAAGATTAGAAATTATGCTTTAGAAGTCATGAAGCTGGAGGCTACAAGATTCTGATTGCACCACTCCCCACCCCTTCCTACCCCCCCAGATTGCTCCTGGGGATAAAAGCACTGTTGTAAAACCAAAGATCAGTGCTTGAAATATTTTGCAGACCCTGCACTTCATGGATCAGCTGGCACCACCTAGATCATAAACTGGCTTATCTGATCCTGTGGCCCCCACCCAGGAATTGACTCAGCACAAGAAGACAACTTTAACTTCCTATGATTTCATCTCTGACCCAACCAATCAGCACTCTCGACTCACTGGTCTTCCTTCACCCACCAAATTATCCTTAAAAACTGATCCCCAAATGCTCAGGGAGACTGATTTGAGTAATAGTAAAACTGGTCTCCTGTACAGCCAGCTCTGTATGAATTACGCTTTCTCTATTGCAATTCTCCTGTCTTGATAAATCGGCTGTCTAGGTAGTGAGCGAGGTAAACCCACTGGGTAGTTATACTTACAAATTTTAGGTTTGGCCTAAAGGTTTCTCCCTACGTAATAAACTGTTACCTAACTGGGTGAGGAAACAGATTGTAACCTACTGTTGGGCCAGTCACTAAGTTTTGTCCCATCAAAGGTGGCCAACTGTTCAAACCATTTTCAAATAAGGCAAACATCTAGCTGTAACCAATCTGGCGATTTCTATATCTTACTTTTGAGGCAGGGTTTTACTGTGTCACTCAGGCTGGCGTGCAATGGCACATATTCGGCTCACTGCAGCCTCAATTTTCTGGGCTCAAGTGATCCTCCCACCTCAGCCTGCCGAGTAGCTGGGACTGCTCAGTGTGAGCCACCATGCCTGGCCTTACTTTTGTTTTCCGTACATTCTTTTTCTGCTCATAAATCTTCCACTATGTGGATGCGCTGGAACCTCTCTGACCCTATTCTGGTTTGGGGGGATACCCAATTTGCAAATTTTTCATTGCTCAATTAAACTTTGCTGAATTTAATACGTCTAAGGTTTTTCTCTTATCACTAGATTCTTCTGGTGCCTGCTCATGCCTTCTCTGGGCCAATAAGCAAGTGCCATTTTCCAGTAAGGAAGGATTATATCCTGCTATTGCTACAGAAGGGCTGGGCTCCCTGCTAAACTCCACCCTCAAGCCAGGAAACTTGGCCCTAAGTGAAAACAGCTGACCCTGATACAGAAGGGCTGGGCTCCTGCCTAAACTCCACCCTTCAGCCTGGAACCTTGGCCCTAACTGAAAACAACTGATCCCAGTTTTCCACCCAAATTATTGCCTTTTTGGCCTGCCATGCCCCTATCCTGTGCCCATAAAAAGACTTCAGCTAGCAGCTGATGCAAATGATTGGGGTTACCAGCTGCTGAGTGTCGGGGCTGCGTGCTGCTGAGCAGCTAGCAGAGAAGCAGCATTGAGTGTCAGAGAACACAGACATGGCTAACTTCACATCATGTGGCTTCAAGGAAAGATCACCTTCTTCCTGCACACCATCCCCTTTCCAACTCCCATCCCACTGAGAATCGTCACCCAATAAAATCCTCTGCATATACTACCCTTCAATCCGTTTGTGTGACCTAATTCTTCCTGGACGCCAGACAAGAACCTGAGTGACGAGAGGGCAGGGGCTTGGATGCTGTGGGGCCTGCACAGAGCCTGCTCCCACCAGAGAAGAGTGACTGGCCAGTTCCAGCATTCATTCCCTCTTGTTCCCACACTCACTTGTATGCACACACCCTCTTGAGAGGAGTGGCCAGTGGCAGGCTGAGTGAAACGAGCCACTCCAGTTCCTGCCCATGAAGGGGGTCAAGGGAACAATCCCATCTCACTATCAGGCATATTGAGGCAGAGCGTTCTCCTGTGTTTTCAGTGTCATTGACATAACAATCCTCAATATTTTGGGGAGAAATATTTTGGTTTTCTTTAATACAAACACACTTGGGATGTTCCTATGTGGGTAGGCTTTGGGGGAAGATCACCAGGGCATGGCTTGCAAAGCAAAAATCACAAATGCATTTAAGCTCAAATTAGGCTTAGAATAAAGGACTATGTGTAGAAGGTATAGTGAAGTCACAGGCTTTGCATAACCATAAATGTACTAACTTTGTTTTGCTACTAGTCACTCCTCTATGAAATGATTGATTTCTGACTGCTAGCAATCTTGACAAATCTCATATGTTACCTGTCTGTAGATGCTTTTTCTTTTTGTTAAACACAAGATTTGTCAGTCAGTAACCGAGTACTCCACTTCTAAATTTTTCTTTCTACCTTCCTTTTCCCTCCTTACTTAGTAACAAAATTATAACCTCTTCCCACTAGGCACCTCACCCCCTGCAGAATGTTTCCCTTATCTAATTATATGCTTGCTTAGAAGTTCCAGGAACTGAAACTTCAAACAATCTGGCACCAACAGAATTCTCATCCACCAGGAGATTACCTCAAGGCTGCAGTTAATTAACCTGATTGTGCCTGGGATGGCATCAGCTCATTCATCAAATGAGACAATAATGCGTAAGTCGTTGGAACAAGTCACATAGACCAGCACCTCCTTGGCCCTCCTGCATGCCCCACATTCCAAGCTCCCCTTTTTAAGCCTTTGTGTTTTTTTGTCCAAAATTTAAAATGATTTAAGATAGGAGCCTGGACCATTTCCCCATTGCTAGCTTTCAAAAATGAAGTTACTTTCCTTCCACTGTTCCTCCTTGTTATTTAGTTCTGCAAGCAGTGATCGGTTGGACCTGCATTCAGTTACAAGTTAAAAGGTCATTGTTTAGCAAAGATATGAAATCAACCTAAATGCCTGTCAATGGTAGACTGGATAAAGAAAACGTGGTACATATACCTCATGGAATACTACACAGCCATAAGAAAGCACAAGATTATGTCCTCTGCAGGAACACTGATAGAGCTGGAGGCCATCATCTTTAGCAAACTAACGCAGAAACAGGAAATCAAATACTCCCATAAGTGGGAGCTACATGATGAGTACACTTGGACACAAAGAAGGGAACAGCAGACACTGGGGCCTACGTGAGAGTGGAGGGTGAGAGGAGGGAGAGGATCAGAAAAAAATAACTATTAGACCCCAGGCTTAGTAGCTGGGTGATGAAATAATCTTTTCAACAAACCCCCATGACATGAGTTTACCTATGTAACAAACCTGCACATGTACCCCCAAACCTCAAATAAAAGTTTTTTAAAAGACAAAAATGATTAGTTGGAGAAGAAAATGGAGGGGAAAGGTCATTGTTGTTATTCATAGAAAAGTATTTGCATTTTTTTAGGAATTCACCAATTTCAACTGACATTTGTTTTTAATAAAAAATGTACATGTCCTGAGAGACTGAGCAAGATGGCAGAATAGAAGCCTATACCATTTGTCCCCTCTGCTGGAACATCAAATTTTAACAACTATCTGCACACAGAAAAGCACCATCATAAGAACCAAAAATCAGGTGAGTAATCACACTACCTGGTTTTAACTTCATATCACTGAAAAAGGCATTGAGGAAGGCAGGAGAGACCGTTTTGAATCTCCAAAGTCACGCACACCCCCGATTCCCCTATAGCAGCTGTGTGGCACAGAGAGAATCTGTGCACTTTGGAGAGTGAGAGCTCAGTAACAGCATCAGTTGAACTCATTGCTGCCCGTCACAGTGGAGAATAAAGCCGTGCTGGGCTCAACCAGTACCCACGCATGGAGGGAGCATTTGGACCAGCCTTAGCCAGAGGAAAATTGCCCATCCCAGTGGTCAGAGCTTGAGTTCCTTGGGAAGCCTCCCTACCATTTGTCGAAGTGCTCTGGGGTGCAAGGGAAACTTGAAAGACAGTATAGGACACAGGACTGCAATTCCTAGGCAACTCCTAGTGCTAGGCTGGGCTTAGAGACAGTGAACTAAAGTGACATGTGACTTAGAGAAACACCAGCTGGCATAGCTAAGGGAGTGTTTGCACCACCCCTTCCCAAACTCCAGGCAGTGCAGCTTGCAGCAATGAAAATGACTCCTTCTTTCTGCTTAAGGAGAGGAGAACAAAGAGTAAAGAGGATTTTGTCTTGCATCTTGGATACCAGGTCAGCCACAGTAGGATGGCAAACCAGTCAGAGTCATGAGGCCTCCATTTCAGCCCCTAGCTCCTAAATTACATTTCTACACACCCCCTGTGCCAAAAGGAAACCTACTTACTTGAAGGGAAGGACTCACTCCTGGCAAGATTCATCACCTGCTAACTACAGGAACCTTGGGCCCTTAATAACCAGCAGTAATACCTAGGGAGTACACCATGGACCTTGGGCTCTGAGATGTGCTGGCTTCAGGGGTGATCCAGCACAATCCCAGCTGTGGTAGCTATTGTGAAAGACTCCTGTTTGGGAAAAGCAGAGGGAAAAGTAAAGGGGACTTTGTCTTGTATCTTAGGTACCAGCTCAGCCACAGTGGAGCAGAGAAACAAGCAGATTCTTGTGGTCCCTGAGTCCAGGCCTAGGCTCCTGGAAAGAACTTCTGGAAATTCCCTGGGTGAGAGGGGAGTGCACTGCCCTGAAGGGTGAGTCCGAGGCCTGGCAGCATTTACCATCAGCTGATGGAAGAGACCTTGGGCTTTAAGTGAACATTGGTGGTAGAGTGACAGAACCCTCCACAGACCAGTAGTGGCGGTGGCCACAGGGTGAGGCTCCTCTGCTTGTGGAAAGGTGAGGGAAGAATGGGAAGGACTTTGTATTGTGGCTTGAGTTCCAGCTTAGCCACAGTAGACTAGAACATTAGGAAAATTGCTAAGGTTTTTTATTCCAGTTCCTGGCTCCCAGACAGCATCCTGGACATACCTGGCTTCTGGGGGAACTTGCTGCCCTGAAGCAAAGAGTCTTGGGTAAGGTATAGTACTGTGCTGGCTTCAGGTCTGACCCAGTGCAGTCCCAGTGTTGGTGGCCACAGGGGTGTGTATATCACCACACCCCCAGTTCCTGGTGGCTCAACACAGACAGACTTTGTTTGAGAGAAAGTAAAGGGAAAGAACAAAATTTCTGCCTTGTAATCCAGAGAAATTTGTCAGATCTTATCCAAGACCACCATGGTGTATCTCTATAAGCATACAAAAACACAGCATTATTGGGCTTGGGGCCCAAGTTTTTTTGAATACCTGGAAAGCTTCTCAAGAAGGACAGGGACAAATAAGCTCAGACTATGAAGACTACAATAAATACCTAGTTCTTCGATGCTCAGATACCAGCAATTATCTACAAACATCAACACCATCCAGGAAAGCATGACCCTACCAAATGAACTAAACAAGGCACCAGGAATCAATCTTTCAAAAACAGAGATGTAAGACCTATCAGATAGAGAATTTTAAATAGTTTTTTTTTTTTAGATAGCTCAAAGAAATTTGAGATAACACAGAAGGAATTCTGAATTCTATCAAATTCAATAAGGAGATTGAAATAATCAAAAATAATCAAGCAGGAATTTTGGAGCTAAAAATGCAACTGGCATAATGAATAATACAGCAGAGACTCTTAATAGCAGAACTGATCAAACAGAAGGATTAGTGAGCTTGAAGACAGGCTATTTGAAAATACACAGTCAGAGGAGACAAAAGAAAACAGGTGAAAAAACAATGAAGCAGGCCTACCAGGTATAGAAAATAGCCTCAAAAGGGCAAATCTAAGAGTTACTAGCCTTAAAGAGGTGATAGAGAACAAGATAGGGTAGAAAGTTTATTCAAAGGTTAGTAACAGAGAAATTCCCAAACCTAAAGAAAAAGGTCAGTATCCAAGTACAAGGTTGTAGAACACCAAACAGATTTAACCCAAAGAAGATTACCTCAAGACATTTAATAATCAAACTCCCAAAGGTCAAGGATAAAGTATCCTAAAAGCAGGAAGAGAAAAGGGACAAATAACAAACAATGGTGCTCCAATACATCTGGCAGCAGGCTATTCAGTGGAAACCTTAAAGGCTAGGAGAGAGTGGCATGACATATTTAAAGTGCTGAAGGAAAAAAATACCTTTTACCTAGAATAGTATATCCGGTGAAAATATCCTTCAAACATGAAGTAGAAATAAAGACTTTCCCAGACAAAGAAAAGAGGAGAGCTTTCATTAATACCAGACCTGTTCTACAAGAAATGCTAAAGTCAAGTTTTGAATTTGAAAGAAAAAGATGTTAATGAGCAAGAATAAATCATCTGAAGGTACAAAACTCACTGGTATTAGTAAGCACACAGAAAAACACAGAATAGGATAACACTGTAATTGAGGCGTGTAAACTACTCTTGTCTTAAGTAGAAAGACTGAATGATAAGCCAATCAAATATAATAACTACCACAACTATTTGAGGCATAGACAGTACAATAAAACATAAAGAAGCCAGGTGTGGTGGCTCATCCCTGTAATCCCAGCACTCTGAGAGGCCAAGGTGGGTAGATTGTTTGAGCCCAGGAGTTCAAGAACACCCTGAGCAACAGAAATCCTGTCTCTTTAAGAAATACAATAATAATAAATTAACCAGGTGTGATATTGTGTGCCTAGAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGTGTCACTTGAGCCCTGGAGGGTGAGGCTGCAGTGAGCTGTGATCATGCTGCTGCTCTCCAGCCTGGATGACAAAGCAAGACCTTGTCATTAAATAAATAAATAAATACATCAGACATAAAGAGAAAGTTAAAAAGCAGGAGGATGAAGTTTAAGTGTAAAGTTTTATTAGTTTTCTTTTTGCACATTTTTGTGTGTTTATGTAATTGGCGATGTCATCTGTCGAAAATAATGGATTATAATATTTGCAAGCCTCTTGATAACCTCAAATCAAAAAACAAATACACAAAAAATAAAAAGGAAGAAATTAAATCATATCACCAGAGAAAATCACCTTCACTAAAAGAAAGACAGGAAGGAAGGAAAGAAGAAAGAGAAGACCACAAAGCAATCAGAAACAAATTTTTAAAATGGCAGGAGATAGTCTCTACTTATCAATAATAACATTGCATGTAAATGTACTAAACTTTCCAATAATATGACATAGAATAGCTGAATGGATGAAAAAAACAAGACCCAGTGATCTTTTGCCTATAAGAAACACACTTCACCTATAAAGACACATATACACTGAAAATAGACAGAAAAAGATATTCCATGACAATGGAACCAAAAAGAGCAAGAGTAGCTACACTTATATTAGACAAAATAGATTTCAAGAAAAATATTGTAAGAAGAGACAAAGAAGCCATTATATTAACGATATAGGAGTCAATTCAGTAAGAAAATAATAACAATTGTAAATATATATGCACCCAACACTGAAGCACCCAGATATATAAAGCAAATATTGGAGCTAAAGACAGTGACAGACCCCAATATAGTAATAGCCACACTACTTCAAAGCACTACTTTGAGCATTGGACTAACCTCTCAGACAGATAAATCAACAAAGAAACATCAGACTTAATCTTCACTGTACAAATGGACCTAATAAATATTTATAGAACATTTCATTCAATAGCTGCAGAATACACATTCTTCTCCTTAGTATATGGATCATTCTCAAGGAAAGACCTATGTTAGGTCACAAGTCTTAAAACATTCTAAAAAACTGGAATAATATTAAGCACTTTCTCTGACCACAATGGAATAAAACTAGGAATCAATAACGAGAAATTTTGGAAACTACAAATACACAGAAATTAAATATGCTCCTAAATGACTAGTGAGTGAATAAGGAAATTAAGAAGGAAATTGAAAAACCTTTTGCAACAAATAATAACGGAAACACAACATTCTAAAACCTATGGAATATAGTGAAAGTAGTAATAAGAGGAAAATTTATAGCTATAAGTGCTTACGTCAGAAAAGAAGAAAAACTTCAAGTAACAGAAATGAGTAGTATCAACATGAACAAAAAAGATGTCTACCCAGAGACCCCATCTGAAGGTCACCAACTCCAAAGACCAAAGGTAGGTAAATCCACAAAAATGAGGAGAAACTAGCGCAAAAAGATGGAAAATTCCAAAAACCAGAATGCTGCTTCTCCTACAAAGGATCACAACTCCTTGCCAGTAAGGAAACAAAACTGGACGGAGAATGAGTTTAACAAATTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCTGAGATAAAGGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTACATGAATTGCTAACTAGAGTAACCAGTTTAGAGAAGAACATAAATGACCTGAGGGAGCTGAAAAAAAATCATGAGAACTTCATGAAGCATACACAAGTATCAATAGCTGATGGATCATGTGGAAGAAAAGATATCAGAGATTGAAAATCAACTCAATGAAATAAAGCAAGAAGACAACGTTAGAGAAAAAAGAGTGAAAAGAAATGAACAAAGCCTCCGAGAAATATGGGACTACATGTAAAGACCAAATCTACTTTTCATTGGTGTACCTGAAAGTGATGGGGAGAATGGACCAAGTTGGAAAACACTCTTCAGGATATTATCCAGGAGGACTTCCCCAACCTAGCAAGACAGGCCAACATTCAAATTCAGAAAATACGGAGACCACCACAAAGATACTCCTTGAGAAGAGCAACCCAAAGACACATAATAATCAGATTCACCAGGGGTGAAATGAAAGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCAGGTTACCCACAAAGGGAAGCCCATCAGAGTAACAGCAGATCTCTTGGCAGAAACCCTACAAGCCAGAAGACAGTGGGGGCCAATATTCCACATTCTTAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTGAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAGACAAGCAAATGCTGAGAGATTTTATCACCACCAGGCCTGCCTTATAAGAGCTCCTAAGGGAAGCACTAAACATGGAAAGGAACAACTGGAACCAGCCACTGCAAAAACATACCAAATTGTTCCATGGATGCTATGAGGCAAACGCATCAACTAATGGGCAAAATAACCAGCTAGCATCATAATGGCAGGATCGAATTTGCACATAACAATATTAACCTTAAATGTAAATGGGCTAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGATCCATCAGTGTGCTGTATTCATGAGACCCATTTCATGTGCAAAGACATACATAGGCTCAAAATAAAGGGATGGAGGAATATTTACCAAGCAAATGGAAAGCAAAAAAAAAAGCAGGGTTTGCAATCCTAGACTTTAAACCAACAAAGATCAAAAGAGGCAAAGAAGGGCATTGCATAATGATAAAAGGATCAATGCAACAAGAAGAGCTAACTATCCTAAATGTATATGCACCCAATACAGGAGTACCCAGATTCATAAAACAAGTTCTTAGAGATCTACAAAGAGATTTAGACTCCCACACAATAATAGTGGGAGACTTTAACACCCCACTGTCAATATTAGACAGATCAGTGAGACAGAAAATTAACAAGGATATGCAGGACTTGAACTTAGCTCTGGACCAAGTGGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAACATACATTCTTCTTACCACCACATTGCACTTATTCTAAAATTGACCACATAATTGGAAGTAAAACACTCCTCAGCAAGTGCAAGAGAACGGAAATCATAACAGTCTCTCAGACCACAGTGCAATCAAACCACAACTCAGGATTAAGAAACTCACTCTAAAGCACACAACTACATGGAAACTGAACAACTTGCTCCTGAATGACTACTGGGTATATAACAAAATTAAGGCAGAAATAAAGATGTTCTTCGAAACCAATGAGAACAAAGACACAATGTACCAGAATCTCTGGGACACATTTAAAGCCGTATGTAGAGGGAAATTTATAGCTCTAAATGCCCACAAGTGAAAGCAGGAAAGATCTAAAATCAACACCCTAACATCACAATTAGAAGAACTAGAGAAGCAAGAGAAAATAAATTCAAAAGCTAGCAGAAGACAAGAAATAACTAAGATCAGATCAGAAATTAAGGAGATAGAGACATAAAAAACCCTTAAAATAAATCAATGAATCCAGAAGCTGGTTTTTTTGAAAAGATCAACAAAATAGATAGACCACTAGCTAGACTAATAAAGATGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAGATGATAAAGGGGATATCACCACCGGTCCCACACAAACAGAAACTACCATCAGAGAATACTATAAACACCCCTACACAAATAAACTAGAAAACTTAGAAGAAATGGATAAATTCCTGGACACATACACCCTCCTAAAACTAAACCAGGAAGAAATCAAATCCCTGAATAGACCAATAACAAGTTCTTAAATTAATGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCACACAGATTCACAGCTGAATTCTACCAGAGGTACAAAAAGGAGCTGGCATCATTCCTTCTGAAACTATTCCAAACAATAGAAAAAGAAGGAATCCTCCCTAACTCATTTTATGAGGCCAGTATCATCCTGATACCAAAACCTGGCAGAGACACAACAAAAAAAGCCAATATCCCTGATGAACATCAATGCGAAAATCCTCAATGAAATACTCGCAATCCAAATCCAGCAGCACATCAAAAAGCTTACCCAACATGATCAAGTTGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAACGTAAACCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTCGATAAAATTCAACAGCCCTTCATGCTAAAAACTCTCAATAAACTAGGCACTGATAAAATGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATGTACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAACATAGTATTGGAAGTTCTGGCCAGGGCAATCAGGTGAGAGAAAGAAATGAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCTCTGTTTGCAGATGACATGATTGTATATTAAGAAAACCCCATCGTCTCAGCCCAAAAATTCCTTAAGCTGATAAGCAACCTCAGCAAAGTCTCTGGATACAAAATAAACGTGCAAAAATCACAAGCATTCCTATACACCATATAACAGAGAGCCAAATCATGAGTGAACTCTCACTCACGATTGCCAAAAAGAGAATAAAATACGTAGGAATGCAACTAACGAGGGATGTGAAGGACCTCTTCAAGGACAACTACAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGCAGACATTCCATGCTCATGAATAGGAAGAGTCAATATCATGAAAATGGCCATACTGCCCAAAGTAATTTATAGATTCAATACTATTCCCATCAAGCTACCAGTGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAATTTCATATGGAACCAAAAAGGAGCCCACATAGCCAAGACAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAACCTATACTACAAGGCTACAGTAACAAAAACAGCATGGTAGTGGTAGAAAAACAAATACATAGACCAATGGAACAGAACACAGGCTCAGAAATAACACCACACATCTACAACCATTTGATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAACTGGGTAGCCGTATGCGGAAAGCCTAAACTGGATCTCTTCCTTAGACCTTATACAAAAATTAACTCAAGATGGATTAAAGACTTAAATGTAAGACCTAAAACCATAAAACCCTAGAAGAAAACCTAGCCAATACCATTCAGGACATAGGCATTGGCAAAGATTTCATGACTAAAACACCAAAAGCAACAGCAACAAAATCCAAAATAGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCCAAAGAAACTATCATCAGAGTGAACAGGCAACCTACAGAACGAGAGAAAAATTTTGAAATCTATCCACCTGACAAGGGCTAATGTCCAGAATCTACAAAGAACTTAAACAAACTTACAAGAAAAAAACCACCCCATCAAAAAGTGGGTGAAGGATATGAACAGACACTTCTTAAAAGAAGACACTTACGCAGCCAACAAACATATGAAAAAATGCTCATCATCACTGGTCATTAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGACAATCATTAAAAAGTCAGGAAACGACAGATACTGAAGAGGATGTGGAGAAATGGGAATGCTTTTACACTGGTGGTGGGAGTATAAATTAGTTCAACCATTGTGGAAGACAGTGTGGCAATTCCTCAAGGATCTAGAACTAGAAATACCATTTGACCCAGTGATCCCATTACTGGGTATATACCCAAAGGATTATAAATAATTCTACTATAAAGACACATGCACATGTATTTTTATTGTGGCACTGTTCACAATAGCAAAGACTTGGAACCAATCCAAATGTCCATCAATGATAGACTGGATAAAGAAAATGTGGCACATATACACCAGGGAATACTATGCAGTCATAAAAAAGGATGAGTTCATGTCCTTTGCAGGGACATGGATAATGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACACCACATGTTCTCATTCACAAGTGGGAGTTGAACAATGAGAACACATGGACACAGGGAGGGGAACATCACACACCAGAGCCTGTCATGGGGTTGGGGGGCCAGGGGAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGGGTGCAGCAAACCACCATGGTACTTGTATACCTATGTAACAAACCTGCACGTTCTGCACATGCACCCCAGAACTTAAAGTATAATAAAAATAAATAATATAATGATGCATCTTAAAAACTAGATAAGCAAGAACAACTGAACCCAAAATTAGTAGAAGAAATAATAAAGATCAGGGCAGAAATAAATAAATTTGAACTTAATACAAAAAAACCAATTAAACAAAAATTTAGTTTCTTGAAAAGATAAACAAAACTGTGACTAACAAAGAAAAAAAAGAAGAGGACCCAAGTAAATAAAATTAGAGATGAAAAAGGAGACATTACAACTGATACTACCCAAATTCAAAGGATCATTAGTGGATACTGTGAGCAACTATATGACAATAAATTGGAAAGTCTAGTAGAAATGGATAAATTCCTAGACCCATACATCCTACTAAGATTGAACCATGAAGAAATCAAAACCCCAACAGACCAATGACAAGTAATTACATCAAAGCTGTTATGTTTCCCAGTAAAGAAAAACCCAAGACTTGATGGCTTCACTGCTGAATTCTACCAAACATTTATAGAACTACTACCGACTCTACTCAAACTCTTCCAACAAATATAGGAGAAGAGAATACTTCTAAACTAATTCTATGAGGCCAATATTACCCTGATACCAAACCCATACCAAGTCACATCAAAAAAACAAAACAAAATAAAAAATACAGGCCAATGTATCGGATGAATGCTAATTTAACAATCCTCAACAAAATAATAGCAAATAGAATTTAAGAATACATTAAAAAGATTGTTCATCCTGACCAAGTGGGATTTATCCCGGGGAAGCAAAGATGGTTCAACATATGCAAATCAATGTGATATATTATATTAACAGAACGAAGGACAAAAACTATATGATCATTTCAAATGATACTGAAAAAGCATTTGATAAAATTCAACATCCCTTTATATAAAAGCCCTCAGAAAACATCATAAAAGCCATATATGACAGACCCACAGCTCATCTCATACTGAATGGGGTAAACCTGAAAGCCTTTCCCCTTAGATCTGGAGATTTAAGGATATCTGCTTTTGCCACTATTATTCAACATAGTACTGGAAGTTCTAGCTAGAGCAATCCGACAAGAGAAAGAAATAAAGGACATCCAAATTGGAAAGAAAGAAGTCAAATTATCCTTGTTTGCAGATGATATGATCTTATATTTGTATAAACCTAATGACTCCACCAAAAACTATTAGAACTGGTAAACAAATTTAGTAAAGTTACAGGATACTAAATCGACACTAAAAAAATAAAATCAGTAGCGTTACTAAATGCCAGTAGTGAACAATCTGAAAAAATTCAAAAAAGTAATCTCATTTACAATATCCACATATAAAATTAAATACCTAGGATTAACTTAACCGAAGAAGTGAAAGATTTCTATATGGCAACTATGAAACACTGAGGAAAGAAGTTGAAGACACAAAAAAAGAAAAGTTACTCCACGCTCAAGGATTGGGAGAATCAATATTGTTAAAATGTGCATATTATGCAAAGCAATCAATAGATTCAATGCAATCCAAATCAAAATACAAAAGACATTCTTTAAATAGAAAAAAAATCCTAAAATTTCTATGAAACCACAGAAGGCCCAGAATAGCCAAACTTACCCTAAGCAAAAGTAAAAGAATCACATCACCTGATTTCAGTTACACTATAAAGCCATAGTAACAAAATCAGCATGGTATTGGCATGTAAACACATACATAGACCAATAGAACAGAACGGATAACCCAGAAATAAATCCACACACCTACTGTGAACTCGTTTTTGACAAAGGTGCCAAGAACATATACTGGGGAAAAGACAATCCGTTCAATAAATGGTGCTGGGAAAACTGGATATCCATATGCAGAAAAACGAAACTTGACCCCTATCTCTTACCTTGAAAATCAAATAAGAATGGATTAAATACTTAAGTAAGGTCTCAATCTATGAAAGTACTGTAAGAAAAACATTACAGAAACTCTAGGGCACTGGACCAGGGAAAAATTTCTTGAGTAATACCCAAAAAGTACAAGCAAACAAACCGAAAATGGGCAAATGGAATCACATCGAGTTAAAAAGCTTCTGCACAGCAAAGGACACAGTCAACAAAGTGAAGAGATAACCCACAGAATGGGGAAAAAATTGCAATCTACCCATCTGACAAGGGATGAATAACCAGAATATATAAAGAGCTCAAACACTGTAGAAAAAAATCTAATAAGTTAATTTAAAAATGGGCAAAAGCTTTGAATAGAAATTTTTCAAAAGAAGACATTAGGGTGGTAAACAGGCATATGAAAAAGTGCTCAACATCACTGATCAGAGAAATGCAAATCAAAACTACAGTGAGATATCTGCTCAGCCCAGTTAATATGGCTTATATTCAAAAGACAGACAATAACAAATGCTGGTGAGGATGTGGAGAAAAGGGAACACTCATACACTGTTGGTAGGAATGTAAATTAGTACAACCACTATGGAGAAGAGTTTGGAGGTTCCTCAAAAAACTAAAAATACATCTACCATATGATCCCGCAATCCCACTGTTGGGTATATGGCCAGAAGAATCTGCACTCCCAAATTTGTTGCAGTACTGTTCACAATAGCCAAGATTTGGAAGCAATCTAAGTATCTATCACCAGAGAAATGGATAAAGAAAACATGGTATATTACACAATGGAAGACTATTCAGCCATTTAAAAAAGGAGGAGATCCTATCATTTTCAACAACATAGATGAAATTGGAAATCATTATGTTAAGTGAAATAAGCTTGGCACAATCGCATGTCCTCACTTATTTGTGGGATCTAAAAATCAAAACAATTGAACTCATGGACATAGAGGATGGAAGGATGGTTTCCAGAAGCTGGGAAGGATAGTGGAGGTGTGACAGGGAAGGTGGGGATGGTTAATGGGTACAGAAAAAAGTAGTTAGAATGAATAAGATCTAGTATTTGATAGCACAATAGGGTGACAACAGTCAATCGTAATTTAATTATGCATTTAAACATAACTAAAAGAGCATAACTTGTTTGTAACACAAAGGATAAATGCTCAAGGGGGTGCATATCCAATTTTTATTATGTAATTATACAATGCATGCCTGTACCAAAATATCTCATATAGCCCATAAACATACCTGTTACATACCCACACAAATTTTAAAAATAATTTTAAAAAAGAAAATTTATATATTTTGTGATATCTAATTCAAATGTCTTTAGAGTTATACTGAAAAATACATATAGCTTTCTATCTCAGAGCCAAAGTAATAAAAAATCAAATTAAGTTGAAGAGGTGAATTGGAGACTATTTTGAGTAGGTAATAAAGCAGATAATATGTATAACCTACACTCCTGAACAAGGGCTCTTTATTTAAAAGTTTTGAAGCTCATGATACAGTGACATTAAAAAAGGGCTTGGTATGACAGAAAAGTCAGGGAGAGGGACCTTCTGATATCTACAGTCTACGCTATCTGTAGCCCAAATCTACTGTCATCCAAAACTTCAAGGAGCTAGATGTGACTATTTTCCCTGGCATAAACATATTTAACTCTGGGAAGATTTGAGGTTATGCATAGAAAGTTTAAGTTTTATATTTAACTTGGTATTTTATGTATTTATAATTTTAAGTACAATTAGGCTTATCAGAGCATATAGTTCGAATTTAAAATGTAAAATAGAATAACTGGATTCAAATTTATGATCTTAAAGTAAAATCTAAGTTTATAAACAATTTTGAAACACCTAAGATAACTTCCACTCAACATATTCCTGACTTTGATATTAGCTTGTGAGAGTTAACTTCAGGTCTAGGAAAATTTTGGTTGAACTCAGATAACTAATTTAGGAAGAAAATTAAAAATGATAGATGTATAAATGTAAATGCTTAAAATATTTGAAGGTGTTTACTTAGCTAAGCTTTTAACAGACCAAACATTTTCTAATGACAACTTAAAAACATTTCTAACATTGGCTAGATTTAAACATTGAATAATAAGATTTTTAGGTTTAAGGAATACATGGAGTTTTAATTCATTATTTTAATAATTTGAATATCAATTTTTAACTCCAAATGAATCTCAGAAGAAATCTTTCCTGGATTTAAAAGCCAATGTTAAAAGGCTATTCTACCAAAAACTATTCGCAGTTAAACCTTGAATCTACATGATATTTATCCCTCTGTATTGTGTAAGATAGAGATCCAAGTTCATTTTTCGTGTATGAATAAACAATTGTCTCAAAACTATTAAGTAGTAGTCTATCCTTTCTTCAATGTCTGCTTCCCCATTTGGCCAGTGTTGAAACAATGCCTGGCTGACATAATTACTTCAGTGTCATATAAAGTTTATATATACGATGCAGCAAATTCTACACTTTTAAGTTTTGTCATTTTGCTATTCCTCATCAAATTTAGAATCAACTTGTTAGGCTCTAAGGAAAATCCTATTGTAATTGCATTGAATTATAAAATATGGGGTAAGATTGACATCTCTACAACATTAATAGCACATTATATGTCTTTATTTAGGTCTTCTTAAATGCCTCTCAGAATGTTTCTATAATTTTCTTCATTAAAGACGGAAACTTGTTTGTTAGATTTGGTCCCAGGGGCTATTTTGTTATTGTTGTTGGTGCTGCTATAATAGTTTATGGAAATTAGTTTCTAACTATCTGATATGTGTAAATCAAAACAAATGATTTTTTTTTACTGATTTCTTTTATTATTTCAGTTCTTTTATTTTTTTAATTTTATTATTATGATACTTTAAGTTTTAGGGTACATGTGCACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCAAATGCTATCCCTCCCCCCTCCCCCCAACCCCACAACAGTCCCCAGAGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAATGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGTTTCATCCATGTCCCTACAAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGCTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCTCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTGTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGCGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTTTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAGACGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCGTTTATCAGATTTTCATATATTAATATTATGTTTGAAAATTTTGCAACTCTTCTTAAAAGTTTTTATTTTAAAATAAACTTTATTAAGGAATAATTTATACATGATAAAAGGCATCTATTTCAGTATAGAGTTCTATGAGTTTGGAAAAATGTATATAGTCTTGTTACCACCATCATAATCAAGATATAGAACATTTCTATCATCCCAAACAATTTTTCACCTCTTTATCAGTCAGCATCACCCCACTCTTTGGCCCAGAAAACCACAAATCTGCTTTCTGTAATTAAAGATTATGCTGTGTGTTCTAGAATTTCTCAAACATGAAATCATCCATGTTGTTCCAATAATATCGTTAACCTTTGTGTCCCCGCCAAATCTCAGCTTGAATTGTAAGCCCCATTATCCCCATAAGTACTACATAGACTGGAGAGCCTCAGCAGGGTAAGCGCCAAATCCTAAAGATGACCTGTTCTCAAGAGGCTGTTGTATGGGGAGCCAAAGAAAGAGTGAGAAGCCACCAGTGGAGTAGGCAGAAGACTAATAAAGCTTGTTTCTCAAAGGTGTCTGCAGGTTCAGATGTACTTGAGATGAGATGCTTGCTGGATTCCTGGGCTCCAGCCCAGACCTTAAGAATCAACCTTTGGAAGTGAGACCTGAGAATCTAATTTTTTGAAAAAGTTGTCAGGTTATTCTTATGACTATCCCTACAGTACAGGTTTGAGTATCCCTTATCTGAAATGCTTGGAACCAGAAGTGTTTCAGATTTCAGATTTTGGAATATTTGCATATATATGCAATTATGTATATATAATATGTGGTTATATATATTAATATATATTAAAATATATTTATATATTATATGAAATATATAAAAATATATGTAAAATGAGATATCTTGGGGACAGGACCCAAGTCGAAACACAAAATTCATTAATGTTTGATATACACTTTATACACATAGTCTGAAGGTCATTTTATACAATTTTAAACAATTTTTTTATGTAAAAAAAGTTTTAACTGTGTTTTGACTTCGACCCTTCACATGAGGTCAGGTGTGGAATGTTCCACTTTTGGTATCATATCCGCACTTAAAAATGTTCAGATCTTGGGGATTAAAGACTTAAATGTAAAACCTGAAACTATGAAACTACGAGATGAAAACATCAGGGAAATGCTTCAGAACATTGGTCTGGGCAAAGATTTTATAGGCAAAAATCAGAAGCAACAAAAGCAAAAACAAATAGGGTTACATCAAGCTAAAAATCTTCTGCACAGGAAGGAAACAATCAGAGTGAAAAGACAACTTACAGAATGAGAGTAATATTTGCAAACTATCCATCTGACAATGGATTACTAACCGGGATATATAAGGGACTCAAACGACTCAATAGCAAAATAACAATCTGACTTTTAAAATGGGCAAATGATCTGAATAGATGTTTCTCAAAGAAGACATACAGAGGGCCAACAGGTATATGAAAAAAACTTCAACATAATTAACTATCAGAGAAATGCACATCAAGACCACAGTGATATATCATCTCACCTCAGTTAATATGGCTATTATCAAATAGACAAAAAATAACAAATGCTGGTGAGAATGTGGAGCAAATGGAACTCTCATACGCTGTTGGTGGGAATGCAAATTAGCATAGCTATCATGGAAAACATTATGGAGATTCCTTAAAAAACTAAACATAGAGCTACCATATGATCCAGCAATTCCCACTGCTGGGTATATAGCCAAAAAAAGAAAAAAGAAAGAAAAGAAAAGGTATCAGTATGTCAAAGAGATGTCTGCATTCCCATGTTCATTGCAGAACTATTCTCAATAGCCAAGGTATGAAATAAACCTAAGTGTACATCAACAAGTGAATGAATAAAGAAAATGTGCCATATATACACAATGGAATACTATTCAGCCATTAAAAAACCAAAATCCTGTTATTTGCAGTAACATGGATGAGCCTGGAAGACATTATGTTAACTGAAATAAACCAGGCACAGAGAGACAAATATTGCATGTTCTCACTCATGTGTGGGAACTAAAACAGTTGACCTTATAGAGGTAGAGAGTAGAATGCTAGTTACCATTCTGGTATGTACCAGAGGCTGGGGAGGGTAAAGGGGATGGGAGGATGAAGGAAGGTTAGTTAATGGGTACAAAAATACAGTTAGATGGAAGGAAAAAGTTCTAGTAGCACAGTAGGTGACTGTAGTTAACCATAATTTATTGTATATTTCAAAATAGCTCAAAGAAAAGATTTGGAATCTTGCAACCCAAAGAAATGATAAATGTTTGAGTTTCTGGATATCCCAATTGCCCTGATTTGATGATTATATATTATATGCATGTATTGAAATATCACATGTATCCCATAAATATGTACAATTATTATGTATGAATTAAAAAATTCAAATTTTGGAGCATTTCAGATTTTTAATTTTCAAGTTAGAGTTGCTCAACCCATAGAGGGAAATGATGCCGAAACCAAGGCAGAAAATGTTTTCAATGGAGAAGTGGGTAATATTTTTATTTCTATAGAAAGTTCAAAGTCCACAGCATAGTCAAATAACATCTGTAGTGAAAACTGACCACTGGACTTTGCAACTAGATTATGTGTAGTCCCTAGTGAGAACAAACATTATAAAGCAGTGGAGGGCAATGCAGGTAAACCAGAGATTTCTTTCTAGATTGCAACCTCCCTTTTTCTGCAAAAAGAGAAATTGATGGTAAAAATTTGAGACTTTACAAATGTAGGTCTTTCTGCCAATTTTCAATATGATCCATGATTTTTATTTCTATAGAACTATGTGTCCTTCTCTCCCCTAAGAAATCAGTAATGCCAAACCTGGTTCTTCTAACCATTTATATATCTTAAGGTACCCTTTAAAAAAAATTACTTTCGCAAACATGTCTTTTTTTTTCTTTCTAGTTCAAATATAAGGATGTTTTTTCTCTTGATGATTAAATGTCACTAGAATGTATTCTGATGCTGAAGTCTGCTTATTATTTTTCTTCTGGAAGCTAAGTATCAATTTTTTGTTTTTAGCCTTTAAGTTCTGGAAAGTTTTCTTCAATTACACTCTTGATAAATTTCTACCTTTTGTTTCATACCCTCCTTTTGGAAATCTGATTAATCTTGGGTTGCTTCTTCATGTTCTGTCTTCTATAATTTTGCTATCCTCTCTTGAATTGTCATTTTTTATTATTTTCTTTTGCAGCTTGTATATGTATAGAGTCTGTTTTCTGTTTCATTAATCTGTTTTTGAAGCATTAATTCTACTACTCAAGATTCCAATGAGTATTTGTCACAGAATTTGTCCTGATCTCGTTTCACAATTGCTGCTATTGTCTATCTCCCTGAAAATAGATTACAGCTATTTCCAGAAGATTTGATGTTTCATTCTTCCTTTCTATGAGGAAAACCAAGCTCATGGATTAGAACTGGTGAAATAGAATTGCTCTTCCCTTTTCTGTTTCTTTTGCATTGACAGTTCCTTATGGAAGTCAGATTGTTTTCCTTTCTTGCCCACACTTTCTTTAGCTTACTTTGATAATTCTTAGTGATGTGGTAGGGCCATTGCCAATAAATACTCGAAATCTCACAGTCCTACCAGTTGCTCTGGTTGGCCATATGAAAAACTGCTTTAAAATCTCATTCTAGTAATTTGCTTTCAGTGGAAAACTCTACACACCTGAGGTTGGGCTTACTTGTAAGCACTGTAGAAGATCAATGACTGTGAATGACAGCAGAGAGCCTTGTTCACTTCCAACCACTTGATCTACTCAACTGTCAATCAAGTGCTTCCTTGCAGACTTCAAATTACAGGCTACTTTGAGGCCTCCTTTGTTTTTCACTGTGATCATCCATTTTAAGAAATTTGAAGGCATTAAAAGAAAACATTGGCTGCTTCGTTAAATCTCCTTGAGATCAGCCTTGAAGATGGACAGTAATGACGCAGCTGTGAGTTATATGGTTGTGATCACTCCTGTTCCATCTGTTGCCAGGACTGATTTGAGGAATCTGACCATCTAAGCAGGTTATTCTTTCTCTTATTTCTCTTGTCTGGCTCCATGTGTTCCATAGACTCAGCATAATTACTTGAGGGATGACTTAAATTATTAAGGAGAAAAATATAATACTGATTTTGTAAAAGGGAGTTTGGGTTAGATTATTTTAATAATATCCCTTAACATATTTGCTTCTTGGTGTCCAAGCCCTTTTGCAACATGACTGATGCCCCTTCCAACAGGAGGTGAAATCTATTTTCTCAGACCTTGAATCTGGCCTGGCCTCATGACTTGTTTTGACCAATAGAATGCAACAGAAGCAATGTCATGCGTCCTCAAGGCTAAGCCTTCAGAGAACTTGCCTTGACTTTCACTCTTTTAGGTCACCGCTGGCTTCTAAACAAACCTGGCTAGTTGCTTTTCTCTGCAGAGAGGAAAAGAAATCACAGGGAGAGAAAGACCCGGTAGAGAGAGTATCAGCTGTTTCAGTGCAACTACGGCCATGTGTCACTTAACGACAATACATTCTGAGATGGGACCTGGCCGGGGCTCTGGTGGAGGCATGAGGAGGGAGAATATCAGGAAGAATAGCTAATGGATGCTGGGCTTAATACCAAGGTGATGGGCTGACCTGTGCAGCAAACCACCGTGGCACACATTTACCTATGTAACAAAACTGCACATCCCTCACATGTACCCCAGAACTTAGAATAAAAGTTGAAGGAAAAAAAATACATTCTGAGAAAGGTGTCATTAGTTAATTTCATCATTGTGCAAACCTAGATGATACAGCCTACCATACACCTAGGCTGTATGGTAGCCCATTATCCTAGGCCATAAACATGTATATATGTTACTGTACTGAATACCATAAGCAATTGGAACACAGTGATAAGTATTCGTAAGTCTAACCATATCTAAACATAGATAAGGTGCCATAAAATACAATATAATAATCTTATGGGACAACCACTGTATAAATGGTTCATACTCGACCAAAACATTGTTATACAGCACATGTCTTAGTTGGATCCAGTTTATCAGCTGAACATAACCTCATGGCTGGACCACCCAGCCAACCAGCAGAATCCTGAGATGTAATTGTTGTTTTAGGGATGGTTTCTGACAAAAACACAGGAAACTAGAAATGGATTTAGCCTGGAGTTTCCCAGAAAGCAGAGCCTGAGGCAAAAGCTTATTCATACCTACTTTTCCAGGGAAAGCAGGGAAGGAGAGAAAGAGACAATACAGGGGTGTGTTACTAAGAAAGTGATCGATTGGTTACCTCATTTTGGGAAAGCATCTTCTAAGAGGCCATTTGAATTGCTACATCACAGGATAGTCCACCCAGAGGAGAGGCAAAGGAGAAGGGTTTATCTGCTGGCTCCTGTCTTCCATTAATGAATTAATTTAAAATTTATACCTTATAAAACGTAAACTGCTTCATTCTCCTAGTTTCCCATTTGCAAGAACTGAGCGGGTCCTGGAGAGTTTCACCCTTGGGTCCAACAGAGATATCTCAATGTGAGGGGAATTGCTCACTGCAAACTGCTATACAGTTGTGCCATTTAAAATGAGTTGCAGCCTATTCAGAGTTGGTTCCTGCAGCAGAATCTGAGAGTGTGGGACAAGCAGCCAGAGCCCCAGGGTCAAGTAAGGCCAAATAGATCAGAGGTGGTGCATGTGTCTGACATAGGACGCAACAGGTATTTGGTAGATTAATGCTGATTGAACCCATAATCAATCAGCAGTTCCTACCTGTATTAGTTTGTTCTCACATTGCTATAAAGAAATACCTAAGACTGGGTAATTTATACAGAAAAGAGGTTCAATTGGCTCATGGTTCCGCAGGTTATACAGGAAGCATGGAGGCATCTACTCAGCTTCTGGGGAGGCCTCAGTGTGCTTTTACCCATGGCAGAAGGCAAAGCCAGAGCAGGCGTCTTACATGGCAGGAGCAGGACCAAGAAAAAGAGGGAGAAGGTGCTACACACTTTTACAACAACCAGATCTCATGATAACTCACTCACTATCACAAGAACAGCACTGAGGGAATGGTGTTGAATCATTCATGAGAACTCTGCCCCCATGATTCAATTACCTCCTATCAGGCTCCATCTCTAACAATGAGGATTACAATGTGACATGAGATTTAGGTGGGGACACAGATCCAAACCATATCACTACCTAATATAATCTAATATAAACCTATTGTATTATTCTCAACTTCTATAAAGACATACCTTAGACTGGGTAATTTATGAAGAAAAGAGTTTTAACCAGCTCATGTTTCTGCAGGCTGTACAGGCTTCTGCTTCTGGAGAGCCCTCAGGAAAGTTACAGTCATGGTGGAAGGTGAAGGGGAAGCAGCAACATCTTACATGGCCAGAGCAGGAGGAAGAGAGGGAGAGATGGGGAGAGGGAGAGAGAGACATAGAAAGGGAGAAACAGAGAAAGGGAGAGACAGAGAAAGGGAGAGGGAGAGAGAGACAGAGAAAGAGGGAGAGAGAGAAGGAGAGACAGAGCATGGAGGTACTACACACTTTCAATCAGAACTTGTGAGAACTCTATTATGAAAACAGCAAGGGGGAAGTCCATCCCCATGATTCAGTCACCTCCCACCAGGTCCCTTCTCCAATACTGAAGATTACAATTCAACATGAGATTTGGGTGGAGACACAGAGCCAAACCATATCACCTATCTGATATAAGACTGTAGAAGCCTATAACAAAACTACACACATGCATACCCTATACACAAAACTCTTAGATTACAATGATATGACTTTCATCAATCTGTATTTAGATAATTTTTAAAGATGTTTTTCTCCTTCAAAAAATATGAAGTTTCTATTTCATTGTAGAAGTGATGTCAGAAGACAAGATTACAACAAATGTAAAGATCAAATTGGCTTTTATTGTGGTTCTAGAATGAGGCAACACCTCATTCTATAAAATTGAATGTTCTGTTGAGTTGAGAAGAGGCTGGCTTTATAGGCAGGAAAAGGCTGAAAAAAGCAGAAACAAAACAAAAGGTGGATTGGTTATTTCAAAGTTACTTTTCTTACAAGGCTAAAATAGAACTTTCTTCTTATGCTGACGGATTAAGTAGAATTTTCTATTTTTGTTTTGTTTTTAAACCAGCTTGTTTCAAAGTTTGATATGCTCATTGTGCCCTTAGCACAAGACTTCTGGTTTGGTCTGGTCTGCTGGGGCCTGGCGCAGAAGGCTAATTCAAAACAATGGCCTTCCATGTACTTTATTTAATAGTAATATATGCCCATTGTAACAATTCAAACCAGAGATATGTCACATCTCTTGATATAATTAATATTAACAGTATGGTCAAATAACTTATGCTTTCCCAAGCTTTGTATACATGTAGATTGATAGATACATGCATAAACCCACATGCACATGTGGTTTTAAAAATTTTTAAACAGGCCGGGCATGGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCGAGCGGATCACAACGTCAGGAGATCGAGACCATCCTGGCAAGCACAGTGAAACCCTGTCTCTACTAAAAAAATACAAAAAAAATTAGCCAGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCTTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAATTTTTAAACAAAAATAGGGTTTGACTACTTATACAGTAACTTGCTTAATTCCATTAAAAAATGTATCAAGATGAAGCCACTTTGGAAATCAGTGTGACAGTGATATGACTCAGTTACTCTACTCCTAATATATACCCAAGAGAAATGAAAACAAATGTTCACATAAAAATTTGTACACAAATGTTCATGGCAGCATTATTCATAATTGCCAAAAAGTATTAACAACTTAATTTCCCATCAGCTATGAATGGATTTTTTTAAATGCGGAGTATTCATACAATGAAATATTATTTGTCAATATAAAGGAACCAAGTACTGAAACATGCTACACTGGTGAACCTTGAAGACATTATATGAACTAAAAGAAGCCAGTCACAAAAGACCACATATAATTCCATTTATATAACATGTCCAGAACTAGCAAACTCACATGTTATAGACTGGATGTTTGCATTCCCCAGAATTCAGATGTTGAAATCTAACCCCCAGTTTAAGGTGGGAATTTGGAGAGGTGATTAGGTCATGACGGCAGAGCCCTCATGAATGGGATTAGAGCCCCAGTAACAGAGGCCCCAGAGAGCTCCCTTGCCTCTTCTACAATGAGAGGATGCAAGGCAAAGACCATTATGAACCAGGAAGTGGACCCTCACCAGACACCAAATCTGCCAATATCTTGATCTCAGACTTCCAGTCCTAAAAAGCCATGAGAAATACATTTCTGCCGTTTATAAGCCACCAATCCAAGGTATTTTTTTTTTTATAGCAGAATGGACTAAGACACCATGAAAGACAGAAAGCAGACTCATGCTTGCCTGGGGCTTGGTGGTGTTGGGAGAGTGAGAAAATGAAGAGTTTCTGCTAATGAATACAGGGCTTTTTCTTGAGGTGATGAAAATATTCTGAGAGTAGTACACAGGTCTGCGAATATACTAAAAACCACTGAACTGTATATCTTAAAGGAATGGATTTTATGATATGTGAATTATATATCAATTAAGCTGTTAAAGATGTATCATGGACATTTCACAGCTCATTACATGCAAAACGAGTGCATTCTTTTACGTAGTTGCAAAACAATACTCTGTATTCTGCATCTGGTGCAATTTATTTTAGCATTTTTATGTTAATTGCATTCAATTTTGTTTTTCCAGTTTTTTGCTATTAACAATGCTCCAATAAAATACTACTGTAGGTAAATGTTTTTGCCTAAGTTAGATAAGTACAACTAAAATTGTTGAATTAAATTGTATGTACCTATTTAATTTTAATAGATGCTGCTAGATTGATTTACAAAATGAAAAGAGCAATTCACCCTGATACCAACAGTAAATGAGACAGTCCATTTTCTTATACCCTAACCAACACTGAATGTAATCAATCTTTTTAACTGTTGCAAATAGGCCAATAACAGTGAGTCTTTGTTGTTTTAATTTGCATTAAAAGAACTTTAGTAAGATTAGACATGTTTTAATATATTAGATATTTGCATTTTTTCTTTCATACATTTTCTTTTATAATATTTAGTCAGGTTTTACTAGATTTTCTTTGGTACCTTTACTAATATGAAGGGTTTTCTAGTGTAGTCATGCTATGAACCCTTTGCCTGCGATGTTTTCCAAATGCTTTTTCCCCAATCTATCTTTTGGTTTTGGCTTTGCTCAGTATCTTTTGCCATATGAAAAGTTTTATTTTTTATTTATTTATTTTTGAGACGGAGTTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCACAGCCTCCTGAGTAGCTGGGATTAGAGGCATGTGCCAACATGCCCGGCTAAAAAAGTTTTATTTTTTATGAGGTAAGGCTATCATTCTTAAAATGCCTTTTGTGTTACCTTTCTTACTTAAAAATTACTCTCCCTCTCCACCTCAAACCTTGCTAGGCTTTAAATGTGTCCCCGAAATTTTCATTTGCTGGAAAGATAATTATCAAATTCATATGTTGGTCAGAAGTGGGACCTTTGGGTGGTAATTAGGGTAAGATAAGGATGTCAGCGTAGAGTCCCTGTGAAGAGACTGGTGGCTTTATAAGAAGAGAGAGAAGTCTGAGTTGATATGCATGCTTTTGCCCTCTTGCCACTTGATACCTTCTGATATGTTCTGAAGCAGCAGGAAGGCCCTCACTGAAAGCTGAGCAGATGTCAGCACATTGCTCTTGGGCTTCGCAGTCTCAAGAACCATAAGCAAAATAAACTGATTTTCTTTATAAACTAACCAGTCTCTGCTATTCTGGTATAGCAAAAGAAAATGAACTAATACAACCCCCAAGGTTATATTAATAAAAAAAAAAGTATATGGTATTTTAGTTTCATTTTGAACAATCATATCTTTAAATCAATTTTTTAATAAGATGTAGAATAGATGTCATTTTGAAATTTTCCAGTGAAGAGACAATTGTGCCCAGAAAATCTATTGAATAGTCTATTCCTAAACTTTAACTGTGTCTTAATCCCATTCCTTCTTGCCTACTCAAGGAATTTTTTCTTGTAATTTTTTGTTTTGTCATTGGTCATTTTTTCTTCCCTAATGGATTATTTCCACTAGCTGATGAATATGCTATAATATCTCCCATATTAAAACAAAACGATCCACTTGGACTGCAAATCTTCCTCTATCATTTTGTTAGAGCAAAACTCCTAGAAATAATTGTCTGTTTTCATAGCCAACACTTCTTTACCCCATTCTCTCTAGAATCCACTCCAATTGGTTTCCTGCCCACCACTCCACTGAAACTCCTCTCATCAATGTCATTTACTTTACATTGCTGAGAGCCAACCTAGCCTCAACATGTATCTTGAACACTGAAAACCAAAACCATCCATCCCCCACAGCTTACTGTCTATGTTAACATGACTTTACTGTGCTATTGTCTTAATTAACATAGTTTTATCAGGTGACAGTTGCCCAGCAAATAACTTCATTAATTACAAGAATTTCCCCCAAAGACCCATCAACTCTTCAACAGTAAACATTAACCTGACTCTTCACACTTCTTACCTCAAAATCCTCATCTTGCTATTTCCACAAATCCTAAACTGTTATCTCATGATCCTTACTCACACCTAATCTGGCAGTTCCTGCATTGAAAGAACTGCCCTAAATCAAACTTCAAACTCTTAATAAAATTTGATACTGCTTTCCCTATTTTACCAGTCCCCCTCGTCCAATGCCTAAGATGTGGTGGTGGAAGACAGGAATATCGATCATCCTTGTCCCATGTAGTCCTAGGCTAATATGTATGTTTATGTCTTAGTTTTTAAACAAAAAAGTATAAAAAGTAAATAATTTTTTTAAAAAAGATAAAGGCTTATAGAGTAAGAATATAAAAACATTTTCAAATTCTTAATAAAATTTGATCCTGCTTTCCCTGTTTTACCAGTCCCCCTCTTCGAATGCATAAGATGTTGAGGTGGAAGACAGCAATATTGATAATCCTTGTCCCATGTAGTCCTAGGCTAACATGTATGGTTATGTCTTAGTTTTAAACAAAAGAGTAAAAAAATTTTTTTAAAAAGATAAAGGCTTATAGAATAAGAATATAAAAACATTTTTGTATAGTTGTACAATGTGTTTTAAGCTAAGTGTTATTACAAGAGCCAAAAAGTCAAAAACATTAAAAAGTAGAAAGTAGAAAATTACAGTAAGCTAATTATTGAAGAATTTCCAAAAATAAATTTAGTGTAGCTGAAACATTCAATGTTTATAAAGCTTATAGTAGTGTAATGTTCCAGGCCTTCACATTTACTCACCATTCTCACTGACTTACCCAGAGCAACTTCTAGGACTACAAACTTTATTCACATTAAGTGCTGCCCTATACAGATACAACATTTTTTTTCAATCTTTCATAGCATGTTTTTACTGTGTTTTTTCTACGTTTAGATATGTTTAGATATACAAATACTTATCATTGTGTTATAATCGCCTACAGTATTGAGTAGTCACAAACCATACAGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGTCTAGGTGTGCAGTAGGCTATACCATTTAGGTTTGTGTAAGTACACTATGATGTTCACACAATAAAATCACCTAATGACACATTTCTCAGAACATATCCCCACAGATAAGCAACTTGTGACTGTCTTCGTATATTGTCTTTCTCATCTACTAAAATGAGCATTCCCTGAGGAAAGACTTAGCTTGTCTTGTTCTCTATTGTATTCTAGTACCTGGCACTTAGTGTGCACTCTACAAATATTTTTTGAATTGACTCATTAATTAGTCAATTTTTGGATTGACTAATTAGCTATTTAACTGAAATTTCATCTTTTTCATCCAATAAGTTACTTAGATCTGTTTTTAGACATTCTGATCTGTTCTACTGATCTATTTTTATCTATTTCTGGGTCATTTTTTTCATTACTGGAAGTTACAGGTTTTAATATTTTCAAAACTGTCAATTCTTCCATATGGCTTATCAACTCTAATCTTTATTATCATTTTGTATAGTTATATAAGATACACTTTTGAAATTAAATTTATATGTTAATTGGAGAGGCTTAATCATTTTTTTACTAAATCTTACTCAGGAACATGCCATGATACCTCATTCAGGTCTTTCCAGTTTTAGAGGTTTCATAATTTTTATTGGATATTTTGTAGTTCTTATCACTATTATGTATTCTTTTGATTTTTATTTTATTGCTAATATTAATAAAAACTCTAGGTTTTTATATGTTCTACTTACCTGTGTATCCAGCAGCCTTAGCAGAGTTTTTAAAAAACATTTCAAATAGCTTTGCTAAAAATAAAGTTCATTTTGGAATAATTTTAGATTTATAGAAAATATACCCCACACCCAGTTTCTCCTTTTGTGAATCGCACATATTTGTTGTAACTCAGAAACTAACACTGGTACATTACTATTAACCAAAGTACAGACTTTTTGTAGCATTCACTAGTTTTTCCACTTATGTCTTTTTCTGTTCCAGAACAGAATCCAAGAAAATACATTTAGTGTCCATGTTTTCTTAATCTTCTCTGGTCTATGACAGTTTCTCAATCTTTCATTGTTTTGAGGAGTCTATGATTAGATATTTTATAGAATATTCTTCAGTTTCTATTTGTCCAGTGTTTTCCCCATAAGGTTGTGGTTAGTGTTCTTTTTAGTGCCTTATATCAGGAAGTGCATGCCATTAACATGATTTATTACTGATGTTAACCTCAATCATCTGGCCAAGGTAGTGTTTGCGGGGCTTCTCCATTGTACAGTGACTTTTTTCTTTCTTTCTATACTCTATTACTCAGAAGGGGGTCACTAAGTTCAGCCCCCACTCAAAGTGGGGGAAGAGAATAAGCTCCAACTCTTAACAGAGAGAATATCTACGAGTCACTTTTGGAATTGTTCTATAAGGAATACTGCCCTCTTCTATTTGATTGTAGTTATTCAATTAATCATTTCCTTATATAAGTACTCATGGATATTTAAGACTTGGTTGTAATACAATGCTATGCTACTTATTTTGTTGCTTGAATTGTTCTGTTTTAGCCATTGGGAGCTCTTTCAAGTTGGCTCCTGTCTCCCTTTGATATATCGTCTCTAAGAGGTTTTTAGATGAACTGCTTGAATTTTGTTACACATACAGTCACATAAACAAGTAAAACTTGCCTTTTCTGGTTCTGATTTTAATGACTACTTCTGTCCTCGGCTGTCTAAAGTCTACATGTTCAATGCACTGTAGTTTCCTGTGTTGTAGAAGAGAATTTTGATGCTACTTGAATCCTCTTACCTTTGTAAGTAGTCAGTTCTCTTTGATTGGAAATTGTAAAATATGCCTTTTATCTTTGGAGTTCGGGAATTTCACTAGCATATCTAGGTATGTGTCTTCTTTCATTAATTTTGCCTACGATTTAGGAGTCTGAAATCTCACATTTTTTCAGGTCCAGAAGTTTCCCTTGAAACAGGGTCTCGCTCTGTTGCCCAGTCTGGAATACAGTGGTGTGTGATCATAGTTCCCTGCAGCCGCAAACTCCTGAGCTCAGGTGATCTCCTTGCCTTAGCCTTCTGAGTAGCTGGGACAACAGGCACACACCACCACATTTGGCTTTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGAAACAGTCCCATTAGGTTGCCCAGGCTGGTCTCAAACTCCAGGGTTCAAGTGATCCTCCTGCCTTGGCCTCCCAAAGTGCGGGGACTGTAGGTGTGAGCCACTGTGCCTGAAGTTTTCTTGTATTTATTCTTCAAATATAACTTACATATGGTGTGTTTTTGTACCTTAAAACTTAGTTTTTCATATTGACTTTCTGAATCTATCTTTTACAGCCCTTATCTTTTTACTCATGCTTTCTATGATTTTATATTTATGCTCTCTTATGGTATATTTCTTCTGTTTTCCAGAACAATAAGGCAGTTTTCAGTTGTGACCGTTCCCCTATCTCTTGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCTGGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTCATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCCTCTTGATTTTTTATATCCAAAAATATGTTGAAACTTCAGAGAAACGATTTTATGTACTCTATTTGTATCACATTAAAGGTTTTTTTTTTTTTTAACATTTTTGTTATATTTATTCTTTTAATTCTGATATCACAGGAACCACTTACCCTCACTGGCTTAGTGTCCCTTGTGTTCATATTTAAGCTATTGTCTCCAGACTGTCTTAGTTCATTTGTACTGCTATAAGAGAAATACCATAGGCTGGATGGCTTATAAATAATGAGTTTCTTACTGTTCTGGAGGCTGAAAAGTAAAAGACGAAGATGCCTACAGAATTGGTGTATAACAAGCACCCATCTCCTGATTCGTAGAGCACCATCTTCTTGCTGTGTCCTCAACATGGCGGAAAGGGTAAGGAAGCTCTCTAGGGTCTCTTTTATAAGAGAGTTGAAGTAAAAAAAAAAATCCACTAGATCCATTTATGAGGGCTCCACCCCAATAACCTACTCACCTGCCAAAGGCCCCACCTCTTAATACCATCATCTTGGGTGGTAGGATTTTAAAAACAAATTTTGTGAGTGGAGGGACATGAACATTCAGTCTATAGCAGGCTTCAGGCCCACCCTTCTATTTTCTGCTTATTGAAGCTGGACCTGAGCTTCTGCAAAGCTTTTTCTGCTTTTCCAGGAGGGTCTCTACTCAGTTTTACAAATGAAAGGACACAGAGGGAGACATAAGAGACACACATGTTCCTGTTTGCTTCCTGTTGTGTCAACTCGTCAGTGCTTCTGTTTTCTGGCAGCGACAGTTGACTTCGGATCTCCCTTTTATATTCATACTCCTGGAATCATTCTCAGGGACCCCACGGCACTAGCTAGCCAGCACCCTTCTCCTAGCATTTTGAGCTTCAGTTCCACACAACCCCTCTATAAGCTTTTATTATTTACCATATAACATTGCTGGTAGTTGAACATCTTGATCTAAAAACAGAGACATTTCATATGATTCAAACCAGGACCAGTTCCATAACGGTGTGAAATGAAAAATGAGGGTCCCTTGTTCAAAAATTGTTCATCAGACAGTGAAAGCAGAACATAAGCCAGACCCTTCTGTGCACAGGGTGCCATGTGACTGCATAGGTTGCGCAGCCGTGAAGCTGGCCCTGGCTCAAACTAATAGGTGTAGGTTCAAATAAGGCCAACCTCTTCCCTTAGTTCCCCTGGCTCTATGGAATGGTAGCTGCCTTTGGTAGTCACTGTTTCTGTTCTGTCTTTTTTTTTCTTTTTTTAACTGTTTCAGTTCTCCAATACCTGTTTAATCCATTTTTTATTGTTATTTTTATTACAATAACTAATGTGACTTCTTTTTTTCCTGAGTGATCCCTCCTAGATGCTTATGATATTTATTTGACTTCTCACGTCAGCCATTGTGCAACAGGGACCCTTTATGTTGAAATGGGGTGGTGTCGGTTTTCAGGAGTATCAGGAAAGTCCAGTTTTTCAGTAAGAGGGTGTCAAAACATTTAAGCCAGACACTTAAATATGGAGACATGTTCAAAACAGAACAAAACAAAACACAAAACAGGTTAAACGTATTTCTTTGCTCTTAACCTAAGTTCAGATTTTGGTATTCTGTTACCATGTCTTTCCTACAGAAATTGTTCTACCCAGATGAAGATCTGATGTTAAGTGGTACCGACATTAAATTCCAGCGTATGTAAAGGACTAGCAACACTGCACACTTTTTAAAGACCTTGCTGAAAATCCAGACTCCCCTAACCAAAAGTCTTTGTATACTAAACCAGCACAGTTATTCTAGAGGACAACAGTAGTACCTGCGGACTGTTAGATGCCTGTGGTCTGCAGAGCCAGAATACAATATTTGATTTGGCTCTTAAAGAGAGTGCTAATTTCCAGAGCATTAAATGGGGGCCTATGTTTGTTGCTAAACAATTAGACACACGTTGGCTTGCATTCTCATGCAAGCCCTGCATTAATCAAAGCCTGTTGTAATCTAACTGCTGATTGTTTTGAAAGATGAGGAGAGTGCATCTGTGTTCCAGTGAATCCCATGCATTCAAATTGCCCTTAAAACAATGAAAGTCAAGTCATGGCAGCTGAAATGAAGCAGCTTTGTACCTGGGAACACTAATATGCATAAGCATACCCCTCATATGGATGTGCTTGGTGGGGAAATGTTTTTGTCTTGTTAGGGAACATGCATTAATGCAAATTTGAGAATAAGAAGTTATAATCATTAAAGGCAATTCCATTTCTGAGCTACTTACAGAGACAGAAAATATTGCATAGCTTTTATAAAACTGCAAATTACATCTGATTTGAACTTCATTTAAAACTCCAGAGTGAGAGAACTGTGAGTTTCCCGTTAAATACAAAAGCTTAAATGAGAATTCAGCACTCAGGAGACAGCTGACTGACAATAACCAATCTCACTGACGCTTGAGTGGGTACACACCAGTACAGTTAATCAAAACTCCACTCAGCTGCCAGCTCTTTTGGCATTCTTCTGAGCCCAGCAGAGAGTATCCAGGACAGGAGATTCACCCATCAAAGCTTCAGCTCTGCTTTCCTTGACATTCCAAGCAGATTAGTAAATGACAGATTTCTGCAGCCTAGTAATGGGGCTAGCATGACTCAATGGCAGAGATGACAAGCAAATCTGTAGGATCAAGTGTTCACGGCCTCTTGTTCCATCAGAACTGGCAAAGCTGCCACCAAGGTTATTGGAGTCATATGTTTGGGGGAGAAACATTTTGTTTCAAACAATGTGACAGGAAAGGAGAATGAGTCTACTCCTCACTGACACGTATAGCAGAAAATCTATCAAGCCTTCACCACCCAGCACCATCTATCCCTCCCCTGACACGTCATACAAAGATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATTTTGGGAAAACAGCAAAAATCATGGTCTGATTAAAGTTTACCCTAGGTAAAACTTTACTTACAAAAATGGTACACATAGACATTCCTGATAATCTTGTCTAATATTTGCAAATATTTCATCTTCCTCATAAAGTAAATGCATATTACCCTGTAAACATAGTCCCCACAACGCTTTTTCAATTGCTTAAACATAATCTAACCAAAATTTAAAGTTATGATTGAATATAGAAGGACTCAGATGAGGTGTACGTGGATTCACCAGTAGAGTTTTACTCAGAAACTTTTGCTTTGCTTTGTAACCCACTTATGAACAAGTCCTGAGTGTCTTGACTGATGATAAACTTACCAAGGCTTTGTTTGTTTCAGATTCTCTGTCCTGCCAATGCCTTCCTGGGCTTTAAAGAATTGCCTTCTTAGCCTCATTCCAAATTGATTTTCTGAGCACCTATTGTAGAAAAGGAGCCTGAAAACTACTGAAGAACACATCAGTGAAAGTGCTCATGCTCTTTCTACTTGGATAGCAGATATTAAATAGCAGCTTTAAAGTACTATTTCCACAGCAGGAAAACTATTTGAGAAAAGAGCCTAGGAGGCAAATACTAAGGTACCTGAGATTGCTTTTGCCAAAGATGGCTTTATACAAGGAAAGTCCTCTCGAAATGTCTCCACTTCTCTTATCTACTAGGAAATGTGAAAATGTGTGTAGCGTCTCCTCAGGATGTGAGCGTGTCATCATATGCCAATGTGAGCTTGTGCTAGTTAGTTCTTACTCAGTCCTTTAACATCCATCCACTCTTCTGCATCCCAGTTTGTGGAAACAATGATGCCTGATTTGAATAGCATTTTACAGGTTTCAGTGGTAGACCCACTCTCCAGGTAAGCAATCTGGATTCAAGTCCCGGCTCTGTCCCTTATCAGCTTGTCACTTTGTACAAGTTACCGATCCTCTATGTACCTCAGTTTTCTTATCTACAAAATGGGGATAATAATAGTACCTATATGATAGGATTGTTTAAGGATCCAATTATTTGTATATAAAGCACTTAGAACAGAGCCTGGCACAGAATAAGTTTTATATACATGTTCTATTGGTATTATTTTCTTAATAAACCTATGATGCGTGATCAATTACCCCCTTTAAAACCAGGAGACTGAGGTTTGAAGATGTTAAATAAATGATTCCAAGCCAATTTCTAGAAAGCATCAGGATGAGGACCAGAATCTAGGCCCTCTCCCAGTCAAATGCTCATTTTACTTTTCCACTAGCATAGGACTTTTATAAGCTTTTCAAAGGCAGAGCCTGTGTGGTCCCTGTCAATGCTTTCCTCCAAAAGCATTGAGGTGGAGCCTCAATGCTAAGAATCCAGTCCCTGTGGTTGGGAGCTTGCCTCAGGTATGGGGGAGGCATAATCTCTGAGGTAGGGGATCTGGTCATCAGAACCAGAAGAAAACAGGAGAGGATGTGGGGTGAGAAGCTAAATGCAGCAAGGGCCATGTTTTCAGCACATCATTCCATATCTCCTTCTCTCCTTCTCTGTCTATAACCAAGTCATTTTTGGTGCAAAAAACTGAGGTCCCTTTTATGGAAAAGTGTAGGTACTGCACTGGATACCTGAGCTACAAGGCACAAGCCCAAAATTTTAGAAAGAGGTTTAAGTGTCAAATCCGTGGGACTTCAGTTTCACATCAGCATCATCCTCAGATCACTCACAGTCACCCAAGAGTGGGTAAGAATCTTTCCTGTCCTAGGGCTCAGGAACCTTCTGGTGTCTCCCTCCTGCTCTAAGCCAGCTCTCCATCCCTCCACACTTCGTACTTTCATCTCCTATCATGGCTGTAGCAGTCTTGGATCATCACTTTTGTCTTCCCAGGAAATCGTGTCTGCAGGTTTGTGAGAACATAGCTATTCATTCTGGTTGCCAGCCCCCTTCTTCTCTGCTGAGCCCTCCTGGGCTCACCCAGGGCATCAGGATCAGGACCAGAAAGAGGTCCTGGATTATTATCAGGACCAGAAAGAGGTCCTAGATTATTCTTGGGAAGAATAATCTAGTTGTCTCTCTGCTCCTGGTGATTTTCTTTTGAGGGGAAGTTATTCTCAGCAAATCTGTCCTCTTTGACCCTGCAATTCTAGGAATAAAATATTCTTAATATTACATCAAAACTACAATACCCCTATAAATCTCTTTGAGCCTCACATCCTCTTTCTATTTAAAAGAGATTAGACTCAGGAAAATGGACTCTACGGTAACCACAGGAGGGATAACTGTAGGGTGCTTTTAGGATTTTTAAATTTTTATATTTTGTTTTGTTTTAGTTATTAAAGTCTTGTACTAAAGCAATTGTAAGACATTCTCTTGCCCCATGTTACACTATATTCAGAGGGGTGGGAGAGTGTGGTGATACAATAGAATGGCAGCAAAACTAAAGGTCTACCTATCTTAGGGGATAAAGTTTATAAGAAAAATAATCATCAGAGCCATTAAGCATTTTTACTTACTATAAAGCTTTTTAAAATGTAGAATGGGAAGATAACAGCACCTAACCTAGGATCATGAGTCAGCATATGGACAACACAGAACAAGGCCTGGTGTGGGGAACGATATTGTAAGTCTTGGTCATCTCACTTGTTTCCCTTACAGCATCATTCTATTCTGTTCTCACAACAACTCTGCAAGGCAGGGGTTATTTCCATTTTATAGAGGAGGAAAATAAGTGATTTATTCATGCTTGCAAAACTACAAAAGTATAGAATTGAAGTTCTAGGTCTTCCTTTTTTATAATTCTGCAATCTGAGTGGCACTGGCTGGTAAATTCCATAGGAAAAATAATTCCTTTTTCTCTGAAGGTTTGGTCTTGGAATTGGGACAGGAAATAAAATTGGTGAATGTTGCATTCCAAGATTAGGAGTAAGTGGCTCTGACATCATCTTTGAAAAATGCAGTAGATGTCAATGCAGAGTTTATAGGGATGATTTCGGAGTCACCATTTACAAGATTTCATTCGCTAGTTATTACAAACCAATTTCTGCATTCAGTGCACTTGTGTGCACACACAGAAACACACACATTTTAAACATGGATCGATGCAAGAAATTGCATGAACATTTTCTTCCCTAGCATGTAGGAAAACTTCCACCCTAATTTTGAATTGTCCCATGTAACAGTTCACCACACATCTTACTACTTCTAGATATTATTTTTTCATTTTTTTCCCCTCTTTTCCTCTTTTCTTCATTCAACAAACATTTGTTAAATACCTACTATTTCCCCAGCCATCGACACATTCAGACAAATTGGCAGGATCCTTGCCCTCAGGCAGCCCTGGTTCCACTCATTCCTCCAGAGCTTTATTCCCCTTCTCTATCCCCACATTTCTCACTTTGGTTCAGACCTCTTTTCTATTTTTCTAGATTCTTGCAATAACCTCCTAAATGGTCACTGGACTCAACTTTCCGATCATGGCTTTTATCATGTTCTTTTCCCACTTAGAAACTATTCATGACTTCCTACTGTCTAATGAGTTAAGTACAGACCTCTTTTTGTGGCATTCAAAGCCCTCCTCATTCTGGCTTCTGACTTTTCTTATGTATCAACTTCTATAACTGCCCTCTTTCATCCCTTTGCTGATTTCCAATAGAAATACTATCCCACCAAGCACATTTCCTTCCTCCCCTCTATGTGTGGTTGCATCTCAAGTATTACTTTTTTGTTTTTTTGTGGTTTTTTTGAGATAGAGTGAGACTCTGTCACCCAAGCTGGAGAGCAGTGGTGTGATCTTGGCTGACTGCAACCTCTGCATCCCGGGTTCAAGCCTTTCTCATGCCTCAGCCTTCCAAGTAGTTGGGATTACAGGCATGCACCACCATGCCTGGCTAGTTTTTGTATTTTACATAGAGACAGGTTATCACCATGTTGGCCAGGCTGGTCTCGAACTCTTAGCCTCAAGTGATCCACCTGCCTCAGCCTCCCACAGTGCACAAGCATGAGCCACTGTACCTGGCCAAATGTTACATTTTATCTCAGTCACATATCCATACCCACCTTTCTAGCCTTATTATATATGTATCAACCAACAGAACAAAAAGAGAGAGCCCAGAAATGAACCTACATATGTATGCATGGTCCACAGATTTTCAACAAGGGTGCCAAGAATACACACTGAGAAACTAATAGTCTCTCCAGTAAATAGTGCTTGGAAAACTGGATATTCATGTGCAGAATCAAACTGGATCCTTATCTCACTCCCTATACAAAAAATCAACTCAAAATTTATTAAAGAGTTAAACATATGACCTGAAACTGTCAAACTATATGAAAAAAAAATCAGAGGGAAAAATGCATACATTAGTTAACGAATTTTTAGATTTGACACCAAAAGCACAGGCAATAAAAGCAAAAATAGGCAAATGAGATTACATCAAAATAAAAAGCTTCTGCACAAAGGAAACAACCTAACAGATTGGGGGGAAATATTTTTAAGCCATAGCTCTGATAAGGAATTATTATCCAAAACATATAAGGAACTCAAGTTTTTTCTATAGAAAAATAATTTGATTAAAACATTGGCAAAGGACTGAATACACATTTCTCAAAAGAAGACATCTAAATGACCAAAAGATATATTTTAAAAATGCTCAACATCACTAGTCATTAGGGAAATGTGAATTAAAGCCATAAGATATCATCTCACACCTGTCAGATGGTTATTATCAAAAAGAGGAAGATAACAAGTGTTAGTGAGGATGTGAATAAAAGGGAGCCCTTGTACACTGCTGCTGGAAATGTCAATTAGTACAGCTATAATGGAAAACTGTATAGAGGTTCCTCAAAAAAAAAAAAAACCTAAAAAACAAAAGTGCCTTAGGATCCAGCAATCCCACCAAATTCTACTCAACAACTAAAAAGAAATTGTCATTTGTGAAAACATGGATGAAATTGGAGAACATGATGCTAAGTGAAATAAGCCACATGTAGAAAGATAAATGCATGTTCCCACTCATATGTGGAATCTAAATCAAACTCAAAGCAGCACAGAGTAGAATGGTGGTTACAGAGGCTGAGGGGTGGAGGTAATGGGGAAATGATGGTCAAAGGGTACAAAGCCTCAGACTGGAGGAGTAGGTTTTTCTTTGAGCTATATTTTACAGCATGGTAAAGATAGTAAATAATAATGTCCTGAACATTTCAAAATCACTAAAATTGTAAATTTCCAACGTTCTCATCACAAAAAAATGGTAAGTATTTGAGGTGATGGATATGTTCATTAGCTTGATTTAATTATGCTACGTTGTACTTATAAATCATAACACCATACATATATGCAACTATAATACATATATACAATTATCCTTTGTCAACTTACAATTAGAAAATAAAAATTTAAAAATAACGAATGGATAAACAAATTGTGGTATACCTACACAATGGAATTATACTCAGCAGTAAACAGGAATGAACTACTGATACATGCAGCAACCTGGATGATTCTTAAAATAATTATACTGATTGAAAAAAGCTGGACTAAAGAAGGATACATATTTAGCTAGTATGATTCTATTTATGTAACATTCTAGAAAATGCAAAGGAATCTACAGTTACATAAAGCAGACACACTGGTTGCCCTTCAGTGGAGGTGGATGTACCACATCTGTTCTTTACTTTGATTGTTGATGGTTCCATCAAGTATACCTACGTCAAAACTTATCAGGTTATAAACTTTAAACATGTGAAATTTATTGAAGCTCAATTGTTCCTAAATACAGCTTTAAATTTTTTTAAAAAAATCAGGAAAATTTATTATAATCATATATCTTAGATGTAACCATGATGCTTGGGTGAACATTTGGCTTATACATATTTTCTGAGCCTTTTAAAAACCAAATTTGCATTTACATAATATATTAGCATATTTTTCATTTGTCTCTAACACTATAAGACACTCCTAGTATTATTAGAAGTTCTTTATAAACATTTACATTGAAAGATTCATACTGTGATAAACTGTATCAGTCATGTGCCATCACTGATACCAGTCTTGACAATGTAGCTTGGTCTGGCTAATGAAATATGACTTCGCATATTTCAAAATTGCTAGAAGAGTAGCTTTTAAATGTTTTTACCACAAAAAGAAATAAGTATGTGAGGTGATAAACTTTTAATTAGCCTGAATTATTCCATATTGTGAACATATATCATATTATACCCCTCTAAGTATGTTATTTGTCAATTAAGAATAGAAAAGAAATATGACTGGAAGGGATATGTTATTTCCAACAGGATTTAAAAGCATGGTGTATACTTTGTCATCCTGATGTCTGTCTATAACATTCTTTAAATTATGGTTACTTAATAATATGTTTAATATCTGGTAGTGTTTGTCCCAATCAAGCACTTTATGCTACTGTCATGAAATAAAGATGGGAACTGGGGTGAGGTTCAACATAGAGCATGCTTCTCACAATAATCTCTGTAGCTGTCTGTTGTAATTTTATTGTTAAGCTCTCTTTCTAATTTAGTCTTGAGGCCTCTCTGTTGGGAGTTGCCATAAGACAAGGTAACCACTCTCTAGCAGAGTCCTGGCCAGGAAAAAAATTAGCTTTGGGTATGACGGTCAAGTGAGGTGCACCGAGGAGGTGAAGCCAAGATGCACGAAACAAAAAAAGAAGTTTGGATCACTTACAGATCCCAGAGAGGCTAGGGGTGCTGACGGGAAGCTGGGAAGTCCGGAATCAGCAGGCGTCTCAGCCAGCAGGGTGGGAGCCAGAGAGAGCCAGAGGACCTGTGGGACTATGCTTTATTAAGACCCAAGGGCATTATCCCTTAGGCTTTGCTGGGGAAGGACGAGGCGGGGTAGTTGTGGATTGGCTAGTTTAACAAAAACACAAAAATCTGTGTTGTGGCTCTGGTGTTAACCATCAGATTTGATCCTGGCCAGCAGCTATTGGGCGTGCTGGGTTTGGGTCGGTGGGATAAGAAACAAATGAGCTTATATTGAAAATAGCTGGCTAGGTGGGGTGGCTCAAGCCTGTAATCTCAGCTACTCCGGAGGTTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCAGGGCGACAGAGTGACTCCGTATCAAAACAAAAACAAAAAAACAACTTCTTAGGGAGAGGAAGTTTTAACTAGGCCAAAGGTGACGAGGTACTACTCGGTTTCAAATAACTTATGTCAAGCCTAAAAATGGATGCCGAGACAGCAACTATATTACGTAAATTATTGACACTGCCCATTTTTGTTTCACTCTATCTCCTCTCAGACTCCAGCTCCTTCCACACAGGAAGAGGCCAAATATTCCTGCGCCCCTCACAAGACTCTGGGCTGAAGCCCTGCTGTTTGCCTCTCTGTCTCAGCCCGGGTGAGCTGGCCCATCTTAGACTGGCAACTCTGTTCTGTGAACAGGTTGTTAGAGCCCAAGTGCAACAGGAAATGTACAGAAGGTTTCAAATCATTATGTATACCTACAGGGAGGGAGAAGCAGATGCCATTTGAAAGGGGCCTGATTAGAGAACGTGCTTGCCGACAGTGTATCTGATTGGCATCTGTGGCTTTGCAGCCAGACCATCTGTTTTTGCTAATGCAGCTTCAAGTGCGGTGCATAATGAGGTTAGGGTCAGGACTGTATTGTTCGTCTATGGCTTATGTGTGCCTCCTCCAGCTATGTGAAAATTAAAGGGGCACTGCCAGGACCATGCAAGTGGAGAACACTTCTCTGCCAAAATGTGACCAGAAAAAAAAAAGGGATAATGGACTCCCTTTGTGTCTCTCCAGGGAGATCTTAAGTATGGAGGAACACAGAGCTAGAGTGCTATGTTAATAGAGAGAAAGGACAATGGGTGTAAGATGTAGTGGTTAAAAATGGATGGTATCACAAGTAGGAAAAGAACTTTAAAAATAAGACAAAAATCAAGAGGGACTGGCAGGTAAAGAGAAAGAGACATAAACATTTATGTCCCTGGGTTAATGTTTCAGCATTTACAAAATAGAGTCTCCCCAACTCTCAACCCACTCCCAGCTCATGCGCACTTTGTTGAGAGTGCACCACAACTGTACACCATTAGTCTAAAAATAATCAAAGCACCTATCAATTTGATAATGATTTCTTCTCATCTTTGTGCCTTCTGAAATTCTGTCCTCATTCCAAAGCCCAGGGAGGATTCCTGGTACATTTAAAAATCTCTCTACTTAAGCTTGGGGACAGACAGCTTTAAAGTAGATTATTTGACAAATTACATGTTATACTTGCTTTTATGCAGTGTATTGTATAAAATTTGCCTACACCATTTTTAGGGAACTCAGTAGCACCCCCTAGGGATCACTGTTTGACAACAGAGATTTACATGGGAGTAGTGCAGTGTCTCTCTCAACAGTTCTTAATTTATGATTTCTTTTGACAAACATAAATAAAATAGACTATGGTGTTACTTGAAGTTCATAAATCAATCTAAATCAATTAGATATTGTGACTAAAAACAGCAAAGTAAAGCAAACTTTAGAATTTACATTCTCAAATCACATCCTTGTGTTTTTGGAATGTTTCACTGAGTGGGTACCCTTGATACCCACTTAGTGGGCCCAAAGCTCCTGACCTGAGAATCTATAGATTAACAAGTAAGTCATCAAATAACAGGTGCTTTAAAAAAATTATTTGTTAGGATTCCATACTATGTCAAGCCTTTCTATTCTCTGTTTTAATAAATACAGTTTTGATAACTATATTATATGTACAGCTTTGAGCTTATGCTTAAAGTCTGTGCTTGTCATTCAGAATAATGACTGGGGGAGGTTTTCACTATTGAAATGAAAATACCCAAAGTCCTCTGAATACTCCCCCAACAGCAGAGATAAATACCTTATAGACTGATCTGTTGAAGTAAGAATGTGATGGTGGAGTGGTTCTCTCGTTCCTCCCTGTATTAGGCTATTCCTGCACTGCTATAAAGAAATACCTGAGACTGGGAAGCTTATAAAGAAAAGAGGTTTAATTGGTTCATAGTTCTGCAGGCTGTACAGGAATCATGGCAGCATCTGCTTCTGGAGAAGTCTCTGGAAGCTTACAATCCTGGCAGAAGGCGAAGCGGGAGCTTTCATGTCACATGGCAAGAGAAAGACCAAGACAGAGAAGGTGCCACAAGCTTTTAAACAGCTAGGTCTCCTGAGAACTCACTCACTATGATGAGAACAGTACCAAGGGGATGATGATAAACCATTCATGAGAAATGTGTCTTTACCCATGATCCAGTCACCTTCCACCAGGCTGTACCTCCAACATCGGGGATTACATTTCAACATGAGATTTGGGCAGGGTACAAATCCAAACTGTATCACTCCCTAATATAGACTTTTGAACACCTGCCCTTTCACACACTGTATATTGATACTCTACTGCCTTTTGTCAAAATTCAAACTTTGGTCCTCAGCTGATAAGCATTTTGAGCTATCACATGGCTGGGTATATTTATTTAGCAGTGTTTGTATAATTATCTGGATATTTCAATGACTTTTGCTCTTAAAATTTTAGAAAAATAAGTAGATTGTATAATAGGAGCTATAAAAGTGCTAGCCTCAGCACTTAACAGCACATTTGTTATAAACTCAACTTAATTGAGATCATCATTAGATGAGCTGAAGCAGTGACTTTTTAGCCTCAATTAGATGCTTAATGAATTAAACTGGCTGACTATATTAATTATGAAGAAAAGGAACAAAATTAAAATTTAGGAAGAAGTCAAATTCTGGAAATATGCATTGAAGATTATTTTCAAAAGGCAAACTTTTATTAAGACTTTATAATGTTTTTGTTTCATGGGAATACCTCCCCATACACACGTGTCTGCACACAGTGACACATAAAGTTAGTTCTTTGACTTTCAAAAAGTCACTTCTTATATACATTTTAAAGACACATAATATAACAAAAATGAGAATCATTGCATACCTTCCTCTTTAAAAGGGAGTATAAAAGTCACAACCTCTCGGTGTGGTTGGTATGGGGCATTATTTGCATGACACATTATAAATGAATAGATAATGTCCCCACTAGTGTTTTTCCACATGCCAAACATGATATTCAGATCATTTAACAACTGATATAGGCATACCAGTGCTATTGGTCCTGTTGAATTGGAGAAAAGAAATTCCTTGAGAAATAAAATGATGGTGTGTGAGTAACTTACAAATCTCCTTAAAGCAACAATATAATTTTTACATTAAGCAAATGCTCAATGAAGGCTGTAAGAGGATGCCAAGTTTCTTGTGTTTGGATCTTCACCAGTATATTTCTATACTACAGCAATTTGTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTGTAATTCTTAATCTTGTCTCTGTCAATGTAATTGTGGCTATAGAACTTGAAAAGATTATCTTCCCTTTGTGTAATTTGGCTTGTTTGAGGGGTTGATGATACTGCAATAATTTCCTCTTTTTCTGGGGTCCTGGACTCCCTCTTCTGCTTGTCTCTCCATTGCCATAGACTTTTGCATGTCTCTAAGTCCTGGGCTCTTAGCTCTTCCTAATTACAATATTGATGCTGACAGTTTGCTACACCAATTCTAATCACAAATCAGATTTACAGAGGGCTTGCAATGGAAGAATTGCAGCCATGGCATTGACTAGACTGAAGAGCTTAGTTACCAGAAGTCACTTATCAAATGGGAAGGCTAGCTGGGATGGTTAATTTTATGTGTCAATTTGACAGAGCTGTGGGGTGTCTAGATAGCTGGTCAAACATTATTCTAGGTATGTCTGTGAGGGTGTTTGTGGATGAGTTTAACATTGAATAGACTGAGTAAGGCAGATTGTCATCTCTAATGTGAATGGGCTTCATCCAATCAGTTGAAGGCCTGCATAGAACAAAAAGGCAGATCCTCCCCTGAATAAGAGGGAATTTCCTCCTGAGTGACTTTCATTAGCTGGAAGTTATTGGTTTTTTTCCTTCCTTCAGACTGCAACTGAAATACCAGCTCTCTTGGGATTCCAGCTTACCCACTGCAGATCTTTGGACTTGGCAACATTCATAATCATGTGAGCCAATTCCTTATAATGCATCTTTCACATCAAGTGTCAGGTTCTAGCCCAAGCTGAGGTCCACGGGGAGTGGGTGGCAGATAGCTGGAAAAACACTAGAGGAATCATAGGCAGTTTTGACATGGCTTTATTCTCTCTCTGGTAGCAAGCCTGGGCATGAGCTGTATGTACAGTGTTAGCAGTGTAATTATACCTTTCACAGACAATAGTGGTTCCGAGCCAAGCACGAGCTCACATGAGTAGTTACCTAATGTGCCTCATATAATGTGTGGGGTTGTGCACCTGAGCTCCAAACCTGCTGAGTCATGCTGTGCTGGAAGGCCACCTCTGCCTACTCCTGACTGAAGTGCAGCTATTTCCCTTACACTCCAACCCCTAGGCTGAGGGCATCTTCTGGGTAGGGACATGTGCCCATAGGGCAGAGCCCTGAATCCATAACCCACAACAACAATACAGAGAGCAATACCTCACTACTAGGATCTCAGCTATGCTACTTATGACTATTAGGGCCCAGCATAGACCAGGGCCCAGGGATGCCCACTATCTCTGCAGGGGGTTGTCAGTAATGCTCTCGACTACCTTAATCTCCCATGAGACCCCTTGCAGGGCTGCTGTTGTGTTCTGCTGATTGTCAGGGATAAAGGTACAACATTGTGTTCCTTAAAGGGCATAGATGCCTCCTTGGGCAGCAGTTACTATGTCTATGGCCATCCAGTTTTGCAACACCACCTTTCTGATCTGATCAGCCTCATCTGTTAACAAGAGAAGGGCCACTTGGGTGTAATTCAGAGCCCGAGTGGTGTGCTCTGCTCGAGCAGTAACCTGTGCTTCTACAATTATGACACCCACTCCAGGGATAGTCACTGCCAAAGGGTAGAACTGCTGGGGGCTCATTGCACTCACACAAACTAAGAGTGTAGCATCTCCCAGTTATGCGGGCATCAGGGCAACATGGGGAGAACAGTGGCAGGCACATAAGGCCACCCCCAGGTACAATGTCCAGTGCAGTTCGCGGGTAGGTAAATCTACTCTGTGTCCCCACAGACCCATAGACTCCCAGGGGGCACAAAGTCAATCAGGGCCTGACCTTGGTAGTGACATGTGTTATGTTTGCAAAGGCTGTGACAGGTACCCATCCCACAGTGGTGTTACCCCAATGTTGCTCTATGCACTGTGGCACTTGGGCTGGGAGTACTACATGTTCCCCACTAGCCAGCCCCATCATAAACGCTATGGGCCAGCCAGGGGTTGGGCACACCATGTGTCTTGCAGCATCCTTTGTCCAAAGCTGCCATGTTGCATTCCAGGCATCAGCCATGGGACCCCCAAGTCTCCAACCATGTCCAGTTCTCTGCAGACACAAGATGTATGTGCCAAGGCAAGCCATCCGCAGCCCTGCTGGAAGGGCAGTGCATATCCAATAGTTGGAAACATTGGTCACCTAGTGTAGGTGTGGGCCCAGTCCACAATGCAATTGGAGTATGTTAACCTCTGGTCAAAATGACAGAGCAGGCATAGGTACTAACAGGAGTAAATCACACCCCTCAGGCAAAATACAAGCTAACCTTTTATCCCTAGATAACAATGCAGCTGCCAAGGGCTTCTGCCCTCAGTGATGGTACCATAACTTCTCAGCTCCCCATGGTTCCTTTGGGTCCTGTATCCATGCCAAAGTCATGGGGGAGCTCATAATAGGCCACATAGACAGTACATATGTTCCCTAAAGGAGGATTCCTTCCCTGGTCATTCCCCTACAAACAGTCAACTGCAGGGGCCATGTATTGAACACCCAAGAAGTTACATGCAAGTCATACTGTAGGCCCTCCCTCCAGGGAGCTATGATGGCCAACCACCGGCAGTCAGGGGCCTGGAAGGTCCATGGCCACAGCCAGGTTTTCTGTTCCCCTGCCTTCAGGGGCACTGGGGCAGGCAACAACATGTTACCATTTGTCCTCATACCTGGTCAAAGGAGGTCATCCTTGTTGTGTATCTGCAACTGAATAGGGGTGGTGGCCCACTGTAACAAAGCCTTCACTGGGGCCAGGCTGCCTTTCCATGGCCATTCATTCAAGGTTTGGAGCACCAGGTCGAGACTTGAACTCCAGCCCCGCAAAGATGGGGGTGTGACATGCAAGTGTAACCCATTCTTCAGTAGCCTGTTATATCGCTCAATTATACCTGCAGCTTGCAGGTTGTATAGCACATGGAATCCCCACTTTATGTCCATTTGTTGTGCCCATTATTGTACCTGTTATCCAGTGAAATGTGTTTCCCTATCACTCTCAACGACCAGAGGGCAACCATCCAGGGTACATAAGTGTTGCAAGGTCCAGATGGTGTGCTATTGTTTGGCCACTCTGCAAGCGTAGGTGAACAACAGGCCTGTGGCCATGTCCACAGCTGTTAGCACACGTATATTCCCTTGCAACTTTGGCAGTGGCCTGATGTAGTCTACTTGCCACCTGGTCAAGGGGACTCGCCGTATCATCACTTGTTGTGTAACACTGGGCAGCTGCCTCCATTTGGGGTATGCCTGAGCACGTGCTGGGCATTTCTGACCAGCCTTGCAAATATCTTCTGTGGGCAGGGACAGACCCAAATGCATCTGCCTCATCATTACCAGGGGTAGCCAAAGACATATGGCCTCACACATGATAAATAGTTACATCTTTCTGATGACCCATTTCTTAGAGGTCTTGCCACATGGCTTGGCCCCAAATGGGTTGGTGGCCAACTAGCCAATTCTGTATTTTCCAAGTAGTTAACCAAGAGGTTAAGCCTTGATAGACCGTCCAGCTATCGGTACAGATTACCATAGGTGTCACTTCCTTTGTGATCGCCATCCATACTGCTTTAAGTTCAGCCCATTGGCTGCTTTGCCCACACCCAGTATCAAACCATATGGTGTCAGTACCAACCAACAACAGTCCAGGCAGCAGTAGTACCTCAGCTACAGCCATCTGTGTACCAGGCCTCTCTGGGAATGAGGGGACCCCATTCCTTAAACAGTGATGGTTTGGAGTCTAGGGGTGCATCAGACCCCGTGGCCTTCTCTTGCATTAGGACTACAGGTCCCAAAACCTCTTTCAGCTCTGCTAAGGGGCTTGTACTCAGATTACTCCACTGGTCTAAGTAGGCACCCCACTTTGCTAAAGTAGATGTCTGTGCCATCCCAGTCCAGGGGTCAATACCCATGAATACACCCATCCCGCTATTGGGTAAGTCATTTGCATGACGACTATAGCCCATCCTGTCACACTCTCACAAGGCTGAAAGGCAGCATTTACAGCTGCTAGCTGTTTTTCTGTCAAGGAATACCAAAACTCAGCTCCCTTCCATATTCAGGACCAAAAGCCTCCTGGCATTCTCAAGTGCTCTGTGCACTTCCACAGGCCCCAGCTGAAACCATCTGTGGTCAGATGCATATCCTGCTCAAACGGGCACCCCTGGTCAACTACCCATAGGGCTTGTGTCTGCTGAATAGCCCGCTTTGCTGCCTGGAAGGTGGTCTCAGCTGCATCATCCCAATCCCAGGTAGCTCCCTTCTTTGTTAACCGATATAATGGTTTTATCATTTGCGCTAAATGGGGGCACAAATGCCCACCGATATCCCAAGAGGCCCACAAAAGTTTGCAGCTCCTTCACCATGGTGGGCTGGGGATATGCCTGAATTTTGTCAATGATCTATCAAATCCATGATTGACAGTGCAGCTGCATACAAAGGGAGTGTTACTTTATTCAGTTCCTGATAGTCAACCATCAACCACCAAGTTCCATCAGGCTTTCTAACTGTCCACATTGGAGAATTGTAGGGGCTGTGGGTGCCATGCACTATCTGCACTTCATGCAGCTTTTTAATTGTCTCGGTTATCTCCACATGCCCAGCCGGCAAATGGTCAGGGTTGTGCGGGACCTGAGGCTGGTGATGCATATGTCCAAGCAGCGCCAGCTTCACCACAGGCACTCAGAGTCTGAATTCCCCAGCTGCGGTTTGTAACGGCAGGCCATGTAAAATGTCCACCCCCAGAATGTATTCCAGGATGGCAGAGACATACACAGTATATAAGCAGGGAGCCAAGCGGACCTCCTGACTGAATTGCAGTCATTTCCCTTACGACATCTTTCTTTCTCTCTCTCTCTTCTCTCCCTCTTTTCTCTCTCCTCTCCCTCTTTTCTCTCTCTCTCTTCTCTCCCTCTTTTCTCTGTCTCTCTCTCCTCCCCCTCACCTCTCTTTTTCTTATCTGTATTGGTTCTATTTCTCTAGAGAATCCTAATACTCTAACATTGACATTTTTGTGTGTGTGTCAGAAACTGTCCACAAATCCACAGGGCGGACAACTTGAAAACAATGAAAATTATTTTATTTGCATTAAAGGTTCTTTTTAAAGGGTTGATTGCACCTATTATGCCAGCTACTCAGGAGGCCAAGGAGGGGATGATCACTTGAGGCCAGGATTTCAAGACCAGTCTGGGCAACATCTCTAAAAATAAATATATATTTTTAAAAGGTGTGTTTAGTTCCCCAGCCATTGCAGCCACCACTCTGGGTATGGCTACATGCCCAATCTTTTATGCCACAAAAATAACTATGAGCCTTCTACATGTGCAGAAGTTCCATACTTGTTTTATCATGATGTCACAGAGGTCAATGCAATACAGAAGTGTAGCTAAATTTAGTTGCTCTCATCTTTAAATCAGAAAGCCACATTCCTTGTCCTGATGGTGAGTCTGCTGGGTTCCAGGCTGGAGCTATCCTGGGAGCAATGGTGAAATCCATCATGAATTTCTTTCCCTACACTTGGTAACCCTCAGCTGGTTGTCATGACATTAATGCTACCGTTTTAGTAGAAAAGGAAGTTGGAACCGTGTGAGAAAGAGACAAAGGTAGACAGCTGGAATTTTCAATGGGGAAGGATTGAATACATCAAATTTTAAGGTTCTAAGATGAAGTTCATATTCTTCAAATGTGTTGACCCTCCTATTTATATTTCCAGCTGCCCAACTTATACATTTTGTGTAACTATTGTGAGAGAATATGTTACAGATTCATAATACTCATGAACTATATTCTTCCCTAGCTTTTTAGGTCACACTTATAAATACATGTCACAGTGTTTAAGCTCAGCTTGAAAACTTCAGCTTCATCCTTCATTCATCCTTTTCTTAATCCCTCAGATTATCAGTTCAATTAATTTGTGTTTTCTTCTAAAGAACTCATGCAGGTATCCCTTGCTCTATTTGACTAATGAGTAATGATGGTGAAGTGGCTTAAAAACATATCTGGACCAGCAGATCCTGAGGTTAGAATGGCGAGGCAAAACAAAAACCACGATGTGCTGTGTGTATGTGTGCATGTGTTTCCCTGGTATCTCTCATTCCACATTGATGATTAATCATGCAATAAATACTGTTTAAATATTATTTTAGGGACTTATTGAAATAGCCAATAGACTCCCAATTATCTTAATGCTTTATGTAAGCATTAAGCTCAGACCTAATGAATCTGAAGTGAGGCCAGACTGATTCTGAAGCAGGTGGCCTAAAAACCACGTGGAGAAACACCTGGTACACCCTCTAATTTGTACAGATTAGGCTCAATCAAGCTAACTATTTTACATCTATAAGTTAATGATAATAAGTAATGGTCACTTTAAGATCACAAAGCACCTCTTAAGTAATTAAAAATGGATAAATTGTATTTAATAGAGTTTTAGATTTAATTTCATGTTTTATGAATTATAATTCTTATGAAATTAGAAACTGACAGTTAGCTTGCATGGAATCGCTCTGAAAAAGGAATATTCATGAGTACCCCATTCTTAAAACTCTGAATACAATGAGGTTTATTGCAATTGGTAAGTTTTTATGCTTATCTGCATCCTCTAGATTCTTATTAGTAAATAAGAACAAAGCTTAAAAATGGTAAGTTCTGTTTTGCCTGCACCATCAAGGACAGGTGTTGTGTCTCAGAACTCGGTGGCTCATGGATGATCCCAGAGAGGTGAGACGGTCAGGCAGAGGAATTCACCTTCTTGTATGAGGGTGATGGGTGCTGGTGAAGCTGTCCCAGCATCACAGGCTGCCAGTAGAGGCAGCAGGTGACATTAACAAGTTGTCAGGCAGATAACATGAGAATCATATCCAAAAGGCAGAGACTGCCAAAAAAGGGTAGGCCCTGGGTCTTATCAAGGAGTTGGAGAACCAAGCATATACTTGAAGAGGAAAAATAACTTGAGATTGGAAGTAGAAACCCAGTTATAGAACCAAGGCCCATTGATTGGGGGCCAGTGACAAGCCTCAACTAAGGCTCAGGTATGATTAGAGAGCTGCTAATAACAGTTACCATCTGTTGTGCAGTTACCATGTGCTAGGTACAGTGCTAAGCATTTTATGCATATTAACCTCTCTAGCCCTTGCAAAAAGTCCATTATGGAGATGAGTAAACTGAGCTTCTGTGTGCTTAGCTTACCTGCCTAACTGAGGTCATATTAAGTAGATGACTTGAAGTTGGATCAAGAAGCTTATGCTTCCAGAGCCCTGCAGGAGGGTGGGATGTGAGCACACACATGTGTTTGCGGGTATGTGTGAGTGCATGTGTGTGAACTGGGTGAGCATGCATGCATGAGTATGTGTGTTTGAGGGACAGTGTGTGCAAATATGTGTACAGGGCAGAATGGGAAAGGAGCCCAGTATTTCCGTTCTGGTCACTGTGGCACTGAAATTCTGGAACAGAGTGGGGACCCATTGGCCACTTCGTCTCAGGTTAGACTAAGGGCAAGAGTGGCCCAGTGCCCAGTGGGTTGGGGTGATGAGGGGGAGCAGAGGACACAACTATGTTTTACATCCTGTTTTAAGTCAGATGGACGTGGGAGGTGAAGGATAGTGGGCCTAGCTGGCAATAGCTACATCCAGTCGCCTAGGCAGTTTCTCATTCTAGAATAATATAAATAGGAAAACTAAAAGATTAGAGCTTTTAGACTAATAATAAACACTGATTTTGTGTTTTCCCAAGTCACCTTCATCTCTCAGGGCTTCCTGAAATCCTAAAAATAGAAATCTAAAAATGAAATGAAATCAAACATAAAAGTGCCATAATCTTATTTAAACCTAAAGATTTCCAGGGACTGAAATCACATATGTCCAGTACAACGTCAAGCACAGGGTGGGACACACTTAAGACTCACTGTAAACTCTTTGTGTGTGCAGTTTTATATTCACCCTGTTTTCATTTTAGAGTGATGTAGGTCTGAGATTTTGTGCTCATGATTTTACAGAACCCACTTCCAGGACTGATTTGTATTTTTTATGGAATTAAACTAAAAATATGAATATTCAACTGATTTTAAAAAGAGACAGCTCACAAACAGCTCTTTGATGTAAATTAGAAATTTATTCTTAAACCATGAAAATGTCACTTGAGCTCTATATATGATTGCAATGAAGTCCAAAGCTCTATCAGGCACCCAAAGTTAACTTATTAATATCTGAAACTGATAATGTGCCAAATATGCAGATTAGCCTAATTTTGCAAGCCAGGCTTGGACTATGAGTGATTCTCTTTGACAATCTCTGTAAAGATTGCAAAAGGAAGCCTAGCTTTGTGACCTACCCTGTGTCAGAAGAGGTCCAGGTGAAACCCATTTTAATTGTGGTAGTGTGCACTGTCCCCCATCCCACTGAATTCTTCAAATTGACTCAGACAGAAATGGAATTTAGAAATGTTCAGGATCTATACATTCTTTATTCTTATTCTTTCTCCTCTTGTTTGTACTTCAGAAAATTCAAAACACTGAATTTAATTAAAAGTTTGACACAGGTTTGGTCATCGCTAGACAATGCAAATATCAATCATATGGAAATGGAATTTTCTCTGATGAATAAATAAGGCTAATACTTAAGCATTTGATGACTTTGCAAATTACAGGGCTGGAGTTTTGCAGTGATCCATTCCCAAGTGGTACAAATTCAATATCTTCAATTAAATACTAAGATAATGTGTATTAAAACAAGCAGAAGAGCTAGAGATGGCTGATGGAATCATTTCTTTTGTCACCTATGTACTTTGAGAGAATTGTGGAAACTTCAGAAACCAGAGTGCTTTCTAAGCTGGATGGAAGGAATTGCATACTTCATCTTAGCATATAATCTGGCTATATTCCTAGAGTCTGGAGGTGGAAGCATTACTGTAATTAAAATATGGGATTTTACTTAGGTGATATTGTTTCAAAAAGCAATTACATTAGCATTTTTCCTACCACTGCTCTCAATGGGACTCTGTTCATCAGTAATTACACCAGCATTATCAACTGCTCCATGAGCCCTGGGTTCCAGTGTATCTCTCTCTGAGAAGTTATATTAAACAACACTTGTTTCTCCATACATAGCTACATATAAGCCCATACTGGGAAGCATTAAGCCCCCTGTTCTTCAGTATCTCTCTGATGTGAATTTTATATTCTGCATCTTTACTTACACTAAGAATGTGTGGGCTTTTCAAGTTATCCAGAAAATTTACATAAACCATTCACTCTTCTTTGCCTTCTTTATTTCCCAAAGATAAGAGGAAGACTCTGATTGCAAAATCCAAGGCAATGAATATTAGGTGAAGTATTCTTTTATGTTTTGCTGCAAAAGAAACTGGGAAGAAGATGTCAGGGGAAGCAGGAAACAGAATAGCAGAAAATAGTTTGGGGAAGGATGGTGGTGGTGGTTGGGTAGTTGTTAGAAACATGGCTTCCCTTAGGAATATAGAATTGTCCTTTAGGGAAAATAAGACATTTGCTAGCACTGGTCCATGTCATCACAGATAGATGACTTGTCCTTTCTCTGAGTCATTGTTTTTACCAGGAGACTTGAGAGGTGAGGGTGAAAGGAGGAGGGAATAGGTGAATGCTCCTCACTGGTAGCAAAGTTTGATGGTGGATGCAAGAATCCTTCTCCTCCTCTGTGTGACCTGGGGATGCAGGAGACTGACAGTTGGACTCATGGAAAGGAGGTGACTCCTGTGATTTTTTTTTTTTTTCTAGAAAAGGGTCATGGATTAGAAAGAAAATAAGCCAGGTTAATTATTGAGGTATAAACTCCCTGTCTGGTTCATGGTGACTTAGGATAAACAGAAAAAGGGTTCTTTTCTCTCTGAGGACTATTTGGTGTCTGTTTCTGCCCTAGGAAAGCTACCATCAGCCACCTGCATTGTTGTTGATCCCACCTACCCACTCTGATGATGGGGAGAATGGGGTCCTCCTAAGCCCATTAATTTTTAAAGTTTGCTTTATAGTCATGTTATGGGATAACATAAAAGTCACTCCCCAAATCAGATTTTCAAAAGAGAACATAATTAAATCACTTGCCTCTCCGCATTCTGTGCATCAAAGGAGGCAGGGTTTGGGGGAGGGCTGGCTGTGGCCAAGAATAACAAATGACATTAGAAAATTGGTACCACATACTAATGACCAAGAGGCAATATGCAAGTGGAGAGCAAAGCTGTGGGGTGTTCAAGGATTTTTATCTGTGCACTGTCCTATGAAAATATCCGGGAGTTCAAAAATGAGAAAAAGATGTTTTCTCTAGTCTGCTAATTTCAAAATAAGAACTTAGGAAAAGAAAAGAAGGAAGGAAGGAAGGAAGGAAGAAAGGAGAGGGAGAAAGAAAGAAAGGGAAAGATAAACAAAAGTAAATAAACAAAAGCTGTTCTTTCCTTAGCTGGTCTATATCATAGTCTCTAACCTTACATCTTTAGACAAAACCCCAAAGAGAAGTTAGAAACCACAGCTCCTCTGATTATAATCATTTCTCCATCTAAAATAAGTAGTATTTCTCTATTTCCTACCACACTCAACAATAATTGTACCATGCTGCTAGTGAGGCTTACTCCTGCAGCCCCAGCATCACACAGCAGGACCCATAATTCTGACATGATGAGTAAGACCAGCTCACAGGAAGACTTTCTGGGGGAGATTTTTTATATGCAAAAAAATCTTTCATAGTCGGGGCATGGGGCTTCAGGCCCAGGCAGCTATTTATTTAACAATCTTCATTCAATCAACATTTATTTTGAGCCAGCATGACAAATTTAGGAGAAAACAATATTTTTGTGTGGTTGACCTTCATGGAGGAGGAAGGTAGAGAAGAGATGAGATTGTCAAAGGAGATGAGGCAGGCTCTTATATGCTATGGTAAGGAGTTTGGATATAATCTATAATCTTTCTTTCCACCTACCCATCCACGCTTACTTCCATAAATTGCTTTCTGATACCCCATTACTGTGCCACCAAGATAACATGGCTCACAGGTGGAGCTACTAAAGGATTAAACCATGGAGTTGACAGGATCCTGTAGTGATTTACAAAATAATATTCTGGAAACAGTGTGGTGATAAATAAGAGGAGGTAAGGATAGAATCAGCAAAACTAGAAAATCAGTGGTGACAACGGCCGGATGGTCAAGAAGGGCCTGAAGGCAGTTGATAAAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTCGTGTGCACGCATGTGTGTGTGAGAGAGAGAGTTGGACACTTAGATTGAAGGGAAGAAAAAAGTCAATAACAATTCTGAAGTTTCTAATCTAAGAGTGTTCTCTCAGACTCTACCATTTTCACTAAACATCTTCCTCATTATCACCCATTCACTGGCCAATAAAAGCAAATTTAAGGGCCATTTAAGACACCTATGGACTCTCCTCACTCTTCCCCAACCTGCTCTGGAACGAACCCCCTTCTTTCCAAACAGGAGGTCCTCTTGAGTGTATGCCTTCATTCGGATGCTCTCTCCAGCCATATGGACTAGGCCTTAAGACCTGCCTGACTGAGAAGTGTTTCTCAGTCCTCCCTAAGGGCTGCAACTTAGGTGTGCTTCCCACCCCACCTTACTTTAGGTGGATTCTCTGCTCCAGCTGGATCTTCTTGGAACCCAATAACACTCCAAGAGGGAGTCTGGTGCCCTCTCCCTAAAAGGGAGTTTGGGTAGAGAAAAGAGAAAGAACACTTGAAGGAAAGGCGACCACGAGTTTCTTTTAGGTACATTGGGTTTGACATGCTTTCTGGGCTACCCCGCAGGAGAGAGTTGAATTGGGGACACTGGTTTGGGAATAGTTGACACCGTGGGAGTAGATGATGTCAGCTTGGGAGTGTGTGTGGCGTGAGAGGGGAAGCAGGCCCAGGAGGAAAGCTGGGAATGCTGACAGAAGAGGAAATAGTAAAGAATAGACAGAAGCAGCAGCTGGAAAGAGAAAGGAAGCCAAAGGAGAAGAAAACTGTGAGAAGAGAGTGATTTGTGAACTAACAATAAAATCCTAAGCCCCCACTGACTGAATGTGCCCTGTCTTGACCAAGGGGACCCCAGAAAAACCTTAAAAATGGAATTCCCAGCTATGACAGGAAGGGGGCTTGGACACACCTTATTACACTCCCTCTCTTTTGGAGTTTAGGCACAACTGACCAGTATTAACGTTAAAATAGAGATCATAAGACTAACAACACGGAATTTATCTCAATAAAATACCAAATTATAAATAATACCTAAGGCCATGTCTGACAAGGGTTAAGTAACACACCCCTGCAGGTCACTCTGACCCAGTGTGTTGGTTAATAGACTTCCTTATGGTAAAACCTTTCCTTCTGCTGACTCCAAATTTTTAGACAGAGCTTTACTTCTTTAACTAATTGCAGACTAAAGAATCTCTGAATCCACCTGTAACCTGTAAGTCCCTGCTTCATGATATCCCATCTTTTTGGGCCAAACCAAGGTAAACCTTTGATGTATTGATTTATGTCTTTGCCTGTAACTCTTGTCTCCCTGAAATGTATAAAACTAAACTTTAGTCAGACTGCTGCGGGCACATTTTCTCAGGATCTCTTGAGACCACTCCCCAGGACATGGGCACTCATATTGGCCCAGCATAAACCTCTTTAGAATATTTTACTGAGTCTGGTTTTTCCATTAACAGATCATTTGTGTTAAGTATCAAAGAGGTTTTTGTGGGAAAAGACCAGATAAAGTCTTGTATTGGGTGTTGAACTCTAAAGCAGACAAGCAGTGGTCCCTGGAGGAAATTTTAATATCCCTCCTTCTAAATCCAAATACTGAATTGTCTCACCTTTCACAGCAAGCTCAAGCCAAAGATCAAATTAAATTGAAACAGAGGGATTGTGCTGATGAGCATGGCTTAGAGAAGCTGCCAAACGATGCTTAAACAAGACCACGTGGCCCTCTCAGCTTTCAGCACACGGTTAAGGGCCAAAGAGAATTTTACTAAATAGGCAGTATGATTGCAATTAAGCCAAGATCCAGCTATCAATTAGTATACCTACAGTCAAATTTCAGGTATTAATTTACTTTTAAATTTCCCATTTATTAGAAATAATTATAAACCCCAACTACGAAGAAGTAGTTTTCAGTAATCCATTGATTTGCATTCTTTTTGTTAGCATAACCAATCATCATTCCGAGGCTCATTCTATAACTGAATACAAGCTCAGCTGCTCACAGCTTGCAAAATCAAATGAACAAAGATGAGACGCAGTGAAAGGACCGTGACTTTAATTGCAAAAGCTAGCAATTGAGGAAATGGCCAGGCTCATACCTTGAATAAACCGTTTCAAATTTTGGGCTGAGTATAGAGGATTAGAAAGGAAAACTTGGCTTGAGGGGCATGCAGGAGTGGCAAGGAGGTGCTGGTCTATGTGACTTGTTCTGATGACCATCTTGAGTTTTTGTTCCATCTGGTGAATGGGCTGGCAAAGTCTTGGTTACGGCTGGGTTGTAAATTAACTCTAGCCTTGAGGTAATTTCCAGGTAGGGGAGAAATCCACAATCAACTGGTTTGTTTCAAGATTTAGTCGCTGGAACTTCTAAGCAATCACATAATTAGATAAAAAAGAAACAGTGTGCAAGGGAGTGACTGGTGGAAAGACAGGAGCAAAGGTTATTACATTATTAAGAACAAAACAGGAAGGAAAAGAAAAGGATTTTAAATGGGCTACTCAGTTACAATTCTATCTAGTAGCCTTTATTAGTTTGAGTGTTTATTGTTTCACTATCATATGTTCAGATATAGGTTAATTTTTTTCTGCTCAAGTCTTTGCATGTTCCTTTAAGTATTCATGTTTTCCCATTAATTTTAGAAGTTTTTATGAACTTATGTCTTAGAATATCACCCTTGTTTCATTGTCTCTATTTTTTTTTAACTTCTACTTTAAGTTCAAGGGTATATGTGCAGGTTTGTTACATAGGTAAACTTGTGTCATGGGGGTTTGTTGTGTAGATTATTTCATCACCCATTAGTTATTTTTCCTGAACCTCTCTCTCATCCCACCCTCTACATCCGATAGGTCTCAGTGTGTGTTGTTTCCCTCTAAGTTTCCTTGTGTTCTCATCATTTAGCTCCTACTTATAAGTGAGAATATGCGGTATTTGGTTTTCTGGTCCTGTGTTAGTTTGCTAAGGATAATGGCCTCTAGCTCCATCTATGTTTCTGCAAAAGACATGATCTCAGGTTTTTTTTATGGCTGCATAGTCTTCCGTGGTGTATGTACCACATTTTCTTTATCCAGTCTACCACTGATGGGCACTTAGGTTGATTCCATGTTTTTGCTATTGTGAATAGTGCTGCAATGAACATATGGGTGTGTGTGCCTTTATAGTAGAATGACTTCTATTCCTTTGGGTATATACCCAGTAATGGAATTGCTTGGTTGAATGGTATTTCTGTCTTTAGGTCTTTGAGGAATCATCACACTGTCTTCCACAATGGGCGGGCTAATTTACACTCCTACCAACAGTGTATAAGTGTTCCTTTTTCTCTGCAACCTCACCAGCAACTGTTATTTTTTGACTTTTTAATAACAGCTATTCTGACTAGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTAATCATCAGTGATCTTGAACTTATTTTCATGTGATTGTTGGCTGCATGTCATGTATGTTTTCTTTTGAAAAGTGTTCATGTCTGTTGCCCCCTTTTAAAATGGTTTTTCTTTTAAATTTAAGTTCTTTGTATTAGGTTGGTGCAAAACTGTGTTTTTTGAAAAAAGTAATTACTTCTAATGGCAAAAACTGCAATCATTTCTGCACCAACCTAATAGATGCTAGATATTAGTCCTTTATTAGATGCATTGTTTGCAAACATTTTCTCTCATTCTATAGGTGGTCTGTTTACTCTGTTGATAGTTTCTTCTGCTGTGCAGAAGCTCTTTAGTTTAATCGGGTCTCATTTGTCAATTTTTGCTTTTGTTGCAATTGCTTTTGACATCTTTGTCATGAAATCTTTGCCCATGCCTATGTCCTGAATGGTATCAGCTAGGTCTCATTTTCTCTATTTTCTTCTTCAGTTACTCCAATATATACATGTATGTGCTTTTGTGTGTTGGAGGGGGGAGTGGGTGTGTGTATGTGTGCATATGAATATAAGTACAGCTACACATACCTTTTCCTTACATTTTCTCAATTTTTTAACTCTTCTTTCATCTTTTCCATCTTTATCTTATGCTGGACTCATATTCTTCTTTAATTCTCTTGAATGGTATCACTGTAATTACTACTTGAGGGTTGTTATTTTTGATTTATAAAACTTCTCTTTTGTTATTTTTTTAATACTGCCTTCTCCTATTTTTTTATTTCTCCCTTTGTCTGTTAGGACATTTCAAGTATTTATATTTTAGTCTCTTTCACATAGTTTTACTATCTTCAAGTCTTGTTGTGATATTGCAATGTAATAAGAAATATATACTTAGTCTTCATCTCCAGTTCCTGGCACAGAGCTCCTAAAACTCTTGGAATTTCCTGAGTGATTGGGGTGACAGAAGCATTTTTTGTTATTTATAATAAGCCCCTTTCAACCACACTGGGGTTTATGCTATCTTGGAGGATAGGAACTGAGGTACCAACGATGTGATTAGAGGGTTGGAAATTTAAGCCCCATTCCCTGACCTTCCGGGAAGGGAGAGGTGATAAAGATTGACCTAATTAGCAAGGGCGGTGATGTAATCAATCATGACTACATAATAAAACCTCCATAAAAATTCTAAACAACAGTATTAGGAGAGCCTTTGAGTTGATGAACGTATCAAGGTGCTGGGAGGGTAGCATGCCCACAGAGGGCATGGAGGATCCACCCCCTTATACCTTGACCTACTCTTCTCTTCCACGTGGCTTTTCCTGAGTTGTATCCTGGATAATAAACTGGTAAATATGTGATTTTCTGAGTTCTGTGAGCTGTTCTAGCAAATTATTAAACCTGAGAAGGGGTTGAGGGAACCCCTGAATTACAGGCAGTCATTCAAAGTACAGGTGGAATCCTGGGAGTTGGGATTGCCATCTGAAGTGAGGGAAGCCTTATGGGACTGAGTCTTTAACCCCAAGGGACTCCCCTAACTCTGGGCAGTGTCTGAATTGAGTTCAGCTGTGGGACACCCGGTTGGCATCTAGAGAGTTGGATAATTGCTTAATGTGAGGGAAAAACCCACATATTTGGTTTCAGAAATGTTCTGTTGAGAGTGTAGAGAAATAGTGTTTTTGCTTTCCTATGAGGTACAAATTCCTGTATCATAATAGTTCATTTATTTTTGTTTCATAACTTTTTATTTTAATCTTTGATCTTCTGTTTAGACTGATCATCTTCTCTGGAGTTGTGGCTTTGTAGGCGTGTGCTCACAAAATGTTTTGGGTTTGCCTCAAACCCAGAGTCTATAGACTATACCTGGCCTGGATCATGCTTTGATCTTGTATCATAACAGGCTTGTTAATTCAGACTTCCTATTCATGTATACTGATGCTGGGAAAGTCAGGCCTAAGCAGAATGCCTAAATTCATAAGCTCACCTTTCCAAAGATATATTTTACAATATCTCAGGGGTAATTATTTTCTCTAGCAGGGCCCTGATTTGATAGCAAGTGTCTGAGCTCCTTTCTAGGCTGGCAAATAGCAGTCTTCTAAAATCCATTTCACATATGGACCAGCCCTATAGAATTGCTGGACACAGATATTTCAGTTCCATGGCTCTACTTGGGTAGGCATTAGAGCTGTTTAGGCCAAAACCCTTTGTTAGTGTCTCAGATTTTATGCTACTTCTCTGGCTCTGAGTTTCTTCTTCACTTCTGGTACCTGCAAATTCTCATTTTTTTGGTTGTGACCTCAGTACTATATTTAGGGAGTGGGTTATATTTTATTAAGAATTATATGTTTTCATATTACGTCAGCCTCCCAAATTGACCTCTAATGATAGAATCCTTAGATACTAAAATATTGAAAATAAAATTGATGGCTGCTTTTATTTACCTCAGAGGCCCATGCACAATGTAAATAGACTAGCTAAGCATCTGAACCCTCACAGACACTTCCCTCAATAATATGCTTCCACTTGTCATCAGGGAAAAAAAATAACCGAAAGTACCTGCATATGAATGAAGAATCTGTGTTCCTTACATGATAGTCCATAAATTGCTTTACTTAATTTGAGTCACTTTCAAAACCATTATTTCTTTGATTCTTAGAACAATCCGATCATGGAGATTGGGTGGGTAGTTCTACTCCCATCTGAATGGAAATGAAAATGGGACAGGGGCTGGGGGGCAGTGTGCAGAGTGAGAAAACGTGGATGGTGGAAATTGGGTACTGTCAACATCTACAGGATAAGAGAAGGACATCATCAGGATATTGAAGAAAGGCATTTCAGGAGGCAGGAGCAGAACTGTCAGAGAGCGGCTGCTTAGAATACAGGGAGGAGTGGTCAATGAGGCCAATGGCTGAAAGGGCGAAAAAGGATGAAATATTAATTTTTATCCACTCTAAAGCCATTGGTGACTTTGGAAGAACAATTGTAGCAGAATATTGGGGTCTTTTCAAACAAAGTACGTTTAAGGATGAATGAAAAGTAAGAATGTGTATCTAGTGAACACAAAGACTAGTGTTAGGGATCATTGCGATAGTTTATTACTGCACAGTGGCTCATGTCTATAATCCCAGCACTTTGGGAGGCTGAGGAAAGAGAATCGCTTGAGGCCAGGAGTTTGGGACCAGTCTGGGCAACATAGTGAGACTCCTTTCCACAAACACAAAAAATTACCTGGGTGTGGTGGTGCACACCTGTAGTCCCAGCTACTCAGGAGGCATGAGGATTGCTTGAACAAGACCCTGTCTCAAATAAATGAAAGAAAAAAATAAAGAAGATAGAAGAGACCTTGGTGTCAGTATTTGTGGATAAAACAAAATTGTTCTCTTTACTCCTTATTAGAGTTTTGAATTAATACTTGTGAATTGGACAAATGGAGGTCAAATTTTAGCTTTAGCACTGAGAGTGCTATTGTGGAATGTGCCTTCAATGAGTGACAATCACAGGTTTCACATGACTGAACACCTGATAAAACGACCTTACCACCATTTGCTGGGCAAGCCCTGTGTGTGCCCCAGGGGCAGTTGCTTCCCAAATAAACAAAGCAGAGCAGAATGTCCCATTATTTTGTAATTTCCAAAATTAATTTGGTTGGAGAAAATAACCATACCATATTCAAAGCATATGCAATATCTTACACTTAAAATATAATTGAAATATTTAGTTACTTTGTATTTCAGTACATTAATATTTCTGAAAACATATTTGATTATTAAAACCTCCACTTCTAAGCAGAGTAAACACATTCAAAATCACTTCTGCATATCCTCAGTTTGAGTGCCAACAACAAGCAGATTAAATTTGGAGAGGCTCTCTTTCTTTGCTTTAATTGAATCTTTTTTTTGTCCTGTTCACAGAATTGAAAGTGAAGACTGATGAATCATGCCTTCTGATCAAGACCCATGTTGGAGATTGTTGCCCTGACCTTGGGAAAGTCTGTGTCCATGTAAATTCAGATCTTAATGAAACAAAAATAAATGTAAAGCATTTTCTGGGAAACAGAAAAGTTTTGCTGAATGAAATCTAGGATACCAGCCATCAAAAAGACAACTTTCAAATGCTTGATTTACAAACTTTTCTGCAAATAATTTTAAATATGTTTTTCTTGTGGTAAGTAAAGAACATTAAAAATTCCCAGATTTTTCTGGTGACACTAAGTGTATAGAAAGCATATAAAGTTTCCTGATAAATGCTGATGTGAATACGCTTTGAGACCATCTGCATCTCTCCCATGGAACCTGATGACATTAGAGCTTATGGCTTGAGAGTAAACAGAAAGGTTAATTTTCTTTTTTATAAAGCTCTTAGCTTCAGATACATGGGATAGAGATTGATGGTAGGACTTGGCACCAGAATACCAATTGAACAGTGCTCACGGCTCATTTGGGAATCAGGTCTCCCCAAGAAAAGCTGGGTTCTGACCTCACTTCTGACACCTTAAGAAAAAGCCATTTCGTTCAGTCCAAGCCCCAAATTCCCATTGCCAGCCTGAGTTAACAATTTAACATATAGGGAAGATCCTATAATTAAAAAGTGGTAACGTTAATAATAAACATGTACTGAGTGATTATCATGTGCAAGCCACTGTTCTAGTGCTTTCCATTTATGAACTCAATTACTTCTCACAATGACCAAAGCCATGATTTAAAAACTACACACCCACCAGAAAGACCTTAACATCCTAATACTTGTAGTATGTTGAGTGCCTACCATGTGCTTAGTTTACACTTTAGGTAACATGCTTTATACACTATATGCCATTTAATCCTCACTGTATCAATCTAGTGTTTAGATGCAAACTAAAGCATGTTAGTTGCTAACTCTAGTTGACTTATCAGAAAAGAAGCTAAGTAAAAATAGGTCTGTCTCTTTAGATAGACCACAGAGACATTTGGAGGGCTGGAGAATCAGGCCCAAGACTGTGCTACCTAGAGCAATACCTATACCACACAAACTGGTCTAATGAGAAAAATGAACACTGCTGCCCCCATACTAGGTTTTAGTATATCACTGGCAACTTCTATGTTAAAAAATAAACTTTAAAGCAGCCATTTGCATCATTAATGTGACCGCCATTTCTTCTCGAAGAAATTTCATCCACTGCTACTACTGCTGCATCACTAGGTCCGGAGAGAATGGCAAGGCGTTGGAGAGCTGATGTCTTTTGGCTCTACCCTCAGATGTTTAGAGAAATAACTAGCATTTTCAGTTCTGACCTGGGGAGACCATTTTTTTTCCCTACTGATTTCTTAAATCTGGAAAGGAGTTCAGAGGAATGACAAATTTCTCCTCAGTGATTTTGTAAGAAAGGGTTTATTATCTCAATTTTAATGTATCATGGGACTAAGATCCAGAGAAGCTAGATTGGGTTCTTGCAAACAAACTGTAAGATGGAAAATATTGTGCAGGTTTATTAAAGAGTGCTCTCAGGACATACATCGCTAGGAAATGAAGAGAAAAGAATTGGGCAGAGGGACAAACTAACCTTCACTGCTATCACAAATGAGGCCTCAGACAATCCTATAGGACAACAGAATTGTCCCAAATTAAAGCTAGGGGACTAAGCCTTGTATCTCTGCAAAAAGCCAGTTTTTGATCACAAGATGCCCTTTGGATGGGGCAAAACCTTGAATGAGGCAGTTTTCTGTAGTTGAAAGAGAACGAGTTCCTGTTGTTTTGGTAATGGCAATGAATTCATCAATTTAATATAGATGAATTCCCGAAGAAATATTGATGGAATAGCAGTGGCATCCATCTCTCTTCCTATGATAGAATCTACATGAACCATATTTAAGTATTGTAAAAATATGACATTCAAAACTAAAGATGGACAACATCAAGTGTTACTAAAGATTTAGTGAAATTGGAACCCTCATACTTTGCTGGTGGGAATGTGCAATGATGCAGTAGCTTTGGAAAACAGTGTGCTCATTTCTCCAATATGAATCCCAGTGGTGTCTCTGTCACCCATTCCTTATCATCTGTAATGTTTTTGTATTATGTAAGTCCTTTCTATCTAAAATATCTAGGGTGATTTTAGTTTTACAATATTTAGTATTATACACTGATACCTGACTGGTGTAACCTGTAATAACTAGAAGAAAGGTGGTATTATTCCTTCTTCACCTAGATCACTTCATTTAGTCCTGGGTTGAGGACTAAATTCCCACCAGCAATGTATGATGATTCCAATTTCACCAAATCCTTAGCAACACTTAATGTTGTTCATCTTTAGTTTTAATGTCATATTTTTAAAATATTTAAAAATGGTTCATATAGATTCTACTATGGGAAGAGAGACGGATGCCACTGCTATTCTACCAACATTTCTGTGGGAATTAGTCTATATTAAATTGATGAATTCATTGCCATTACCAAAACAGAACTAAATGAAGTTATACACTGAGGAAAACAGATTACTGAATCCATCCTGATAAGAGTGTAATCAAGAAGGTGAGAAACTTGAAACAAAGAGAGTTGTGCAAAGATCAAAGGTACCAGACAAAACTTATGAGGAACATAATGGCTGCTTTTAAATATCTTAAGCACCCTATGTGAAAGAATTCAAGTACATAGGAAGAAGTAGGACAAGTTTTAGGGACAAGTATGTGAAGAAAAGTCTCAGTGGTCAACTTGCCTTGTCAGGCATTAAGATTCCCATCACAGGAGGAGTTAAAGCAGAAGATGGGTGGCCACTTAGTGAAAAAGTCACAGGGGCGATCCAAGGATTCTGAAGCGGGAAGTATGCAAGAGTCGAGGCAGATGATCTTAAAGTGGAGGTAGCAAACCAGCAGTTCGTGGCCAAATACAGTCTACGAGATGCCATAACACAGGTGGATTTAGTTATCAACATTTATGAATCAATAGATTCCCATAAACATCTGAAATTTCTTTTTTCTCAGGGAAAAATATGAAAATATGGTAGCACTGCATTCCCTTTTGGCAACAATTGGTGATGCTAAAAATAGATTGTTTCTTTTAAACAGATCAAGTAGCCTATAGTTTACCACAGTCCCAATATTCCCACCCATTTAGGCTCTAGCTCACAGCTTTTATCCTATGCTACCTGTCTGGGATCTCAGTTTGCTACCACTGGATCCCCAAACCTAAGATTCTCTGATTCTTTGATGCCATGACTCAAAGTCCAGTTCAAATGTTATCTCTGCTGGGAAGCTTTTCCTATTCATTCCAGCTAAATGTTCTTATTCTCCTCCCTGAATACCTCTGGCGCATAAAATATTTACCACAACTTATTTGAGTTTATTCTTGCAACTTTCCAATAAGGTAGATGTTTGAGGTCAGGGATCTCACATATAGGAGATATCCTTCGATATTTTAGCAACAAATATCCCACATTGACTTTTAATGATGCTCTTTAACAAGCTGATTAATTTCACTGTAACTTAGAAATAGCTTTTTCTACACAAGGGAAAGGCTTACCTGATTTCCTTTTGACTGTAAAGTTTATTTTTGAAATTGAGTTCTATTTCCCCCTTGGAATTCAGGAATCTTAAAACAAATATGAAGGAATAATTTAACTTTTAGACTATGCAACTTCCTAGTTTTTAGTCATTGTACTAGGCACCAGTCAGAATGTACCTTTGCCATGTAAACTTATAAATTTCCTTCTTTCCTTCACTGAGAAATTAAGATGTAAGACTAATGCATTCCATGATGCCTAGAGTTTACATTTGAGTTTATAATTGCAAATTAGTTTCATTGTTATTGTTCTAGACATTATTTTTTCAAACCACAATAATTTTTTTTTTGAGACAGTCTGGCTCTGTTGCCCAGGCTGGAGTATAGTGGCACCTTCTCAGCTCACTGCAACCTCTGCCTCCTAGGTTTAAGTGATTCTCATGCCTCAGCCTCTGGAGCAGCTGGGATTACAGGCGCATTTCACCATGCCTAGCTAATTTTTGTATTTTTAGTTGAGATGGGCTTTTACCATGTTGGCCAGGCTAGTCTCGAACTCCTGGCATCGAGTGATTTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGGCATCATGCCTGGCCTGAAATCACAATCATTTTTGTTGGGAGGGAGTAGGTGAACAGTTTGCTACATTTGATCTAATCTGGACTACTGAGAATAACAGTATAATTTAATGCTTGGTAATTGTTTTTATATATAATTAATAATTACATATTACATATATCAGCTTTTTCTAAAATATATTCTATATAATACTGTTCAAAATGCTTCCCCAAATGCCCCATTTAATAAATAGGTTGCAAACTTATTAGATATCATACCCAACATAGACTGAATCACGATATTTTTTGAAGATACAGATAGTTCCAAAAAAAGTTACCAGAATTTTGCTTCCAATATAGACTATCCCATTTATTCTGGAAAAAATAAAAGAATAAATCATACCAGTGCTTTCACAAACTCTTCTCAAAATAGAAGAAAAATTTCCCAACTCATTCTCCAAGGCCAGTGTTACCCTGATAACAAAGCCAAACAGGACATCACAAGAGACCAATATCACTGATAAATATAGGTTAAAAATATTTAACAAAATATTAGTAAGTTGAATCCAGAAACATAGTGAAAACATTGTACTCAGGACGGGCAAGGTGGCTTATGCCTGCAATCCCAGCACTTTGGGACACTGAGGCAGGCATATTGCTTGAGCCCAGGAGCTCCAAATGAGCCTGGGTAACATGGCGAAACCCTATCTCTACTAAAAATACAAAAGTTAGCTGGGCATTGTGGTGCATGCCTGTAGTCCCAGCTACTCAGGAGGCTTAGGTGGGAGGATTGCTTGAGCCTGGGAGGCAAAGGTTGCGATGAGCCAAGATCACATCACTGCACTCCAACCTGGGCAACAGAATGAGACCCTGTTTCAAAAAAAAAAAAAAAAAAAGAGAGAGAGAGATTATACTCCATGATTAAGTATGATTTATTTCAAGAAGGTAAGATTGGTTTTCAGATATCTAATACTGTGTAATAATATTAACATTATTTACAAATTCAGCAACTTAAAACAATATGCAGTTATCCCACAGATTTTGTAGGTCAGGAATCAATGCATAGCTTAATTGGGTCTTCAAGTTAGTATTATACAAGGTTGCAATCAAGATGTCATTTGGGGCTGCAGTTTCATCTGAGGCTCAACTGAGGCTGGATAGTCCTGTAAACTCACTCAGGTTTTTTGGTAGTTTCTTATGATTATAGGGCTGAGAGCTTCACTTACTGGTTGTTGGCTAGAGGCCACCTTCAGCTCCTGGATGTTGCCTGTATTTCCTTGCCACTTGAAATTCCTCAACATGGGCAGTTGTTTCTTCAAAGGCAATGGAGAGAGAGATTCCAGCAAAATATCCCCCCGCCCTTTTTTTTTTTTGGAGATGGAGTTTTGCTCTGTTGCCCAGGCTGGAGTACCATGGTATGATCTCAGTTCACTGTAAACTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTAGGATTACAGGTGCCCACCACGATGTACCATGCCTGGCAAATTTTTGTATTTTTAGTACAGATGAGGTTTTACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCTGCCTCGACCTCCCAAAGCAGGTGTGAGCCACTGTGCCCGGTCCAAAACACCTCTTTCAATCTTCTATAATGTATATAATGTAATCATGTAATCTTAGACATTGAGTCATATTTGCTGTGTTTGTTTTATTAGAGCAAGTCCCAGGTTCTGACCATACTCAAGAGAAGGGAATCACACAGCCCACTTAAATGGGCTTACTCTTTAAGTAGGTTTCCCAGAAGTCTTGTCCAGTGACTACCACTTATTTCCCTTGGACAAACCTGGGCTACATGGTTATTCTAGCAACAAAGGGAGCTGGGAAATGTAGTTTCTAGATGGGCATATTGTCCACTAGAGTGTAATTGGGTTCTGTAAGAAAAGTGGAGAATAACTATTGGGTGGGCAAATAGCAATATTTCATTCAGGTGGAACCATATCACTGAGCCAGGAATATCAACTAGTGAGTCATACTGCGAATATCGAAAGCCAAAATGATTCTTTTTAGGACAAAATGAATCCATTGGCATTTCATTAATGGAACATGAAAATTATTGTTCTATTTGTTTCTACTTGTTTAAATGAAATACTTGTCTTCAATTCCAGTTTTAGAATGTGGGCCTTGAAATGCTTCAAATTAGCCAATTTAAAATTAATTCTGCTTTAGTAACATTTCATAAAAATGATTATAAATCAGAACAAAAACCTGTAGGGTATAGCAAGTTTCACAATTTCTTTACAAAAACAGCAATGCACCAGTAACCACAGAACAATAAAGAAAAATTAGAGGGGTATATCACAAGGGAAGAAATAATGGAAACCATTAGAGACTCAAAGAGCGGAAAGCCACCAAGAGAAGATGGATGGCTCCATAAACTTTATCACAGTTTTTCAAAAAAAAATACAACAATCTACCAGGTAGTGAAACCATTAAGTGAAATTATTGGTATAGACCAATTATGTCCCCCAAGAAATGAGATAATCATTTCCCTCTTACTGGATAAAAAAAAAAAGAGCAGTAGGAACAGAGACACATCCTGCCAATGAAAACTTTAAGTGGTGATTATAAAATATTCTCCAGAATGGAGTAATGAGTATAATGAAGGTTGTACACAACAAAGTAAAACTGTACTGAGATTGCAGCTTTAGAAAATCACTACAGTCACTGTGACTGTGGACATTCTCTGTGCTTCGATTCAGTAAAACCAGTTGATGGAGTGATGAATTGCTTCTTCAGCTTCTCATGGGTAGATTTAGGGAGAGAAAATGACAATTAGTGCCAATATTATAGAGATATTATTGGACAAATTCATAGGCTATCATCAGAAGCCCTCATGGTAAGGAGGGGAAGGTAGACTGGGTGATATTATTTCTGTGTTTATAGACAAATATCCCAAACAAAACCCTAATCAGCATATCCAATTGTGGGGTGAGGAGTATCATCAGTGACCTTAAAGAGGTGCCTGTGAAGGGTAAGGGGCCGGACTCTCCAGTTGCAAGATAGAGGATGTATTGCTGCTTCTCCATCAGACCAACTCATTTTCCTACTAGTGTTTCCTCTGCGTGGAACACATCTCCTCAACTCATACATAACTAATGTGAAGTGTGGGCAGATGTGGTATGTGTTGATGTATTGCTTCTAGGTGGAAGTATTTACTTGCCAGAACTTCGACACTCTTTCTTCTTGGCAAGGTAATTGTGGAGTTTGGAGATAGCGTCTCTCCCAGCCTGTTGCTGGGTGACCACATGAGCAGAGCTCCCAAGCTAACCCACAATGTCCAAGTAACATGAGAAATAAACCTCTTTCTTTTGGGTAGGGGGAGGGGGTTGTTTGTTACTGTAATATAATCTCCTAGCCTGTTCTGATACTTCATATCAAATCATCTTAATTACTTATTTATAGCACTGTTCATGATCCATACACTCTTAATGTGTTTCTTTATTCTTTTTGTCTGGCCTTGAAATGTAAACTGTATGTGGGCAGGGACCTTATCTGTCTTGTTCACTGATACATTCCCCAGAAAATGCATAATATGGAAAATAATAAATGTTCAGTAATATATATTCAATAAATAGTCTTTAAATAAGAAGTACAATTCTCTTTAGCCAAAGAATAAAGCAACATTTCTTAAATGCCTTTCCTAGGCATTTAAGGAAGTAAGAACCCTACATCCAAATTTCTAGCATTTATCAGCTGTGAGACCTTAGGGACATTACTTTATCTTTTTGTGTCTGATGCCTAAGTGTCTTCATCTGCAAAAACAGAAATAATCATATAAGGTTGTTGTGAGCATTAAATGAGTAATACAAATAACATAATAAACCATAATAATATATATTTATTACTAAAAGTGATACAAAGCAGATATCCAGGGCAATGTGCCTGAATGGCAAGCTATATTTTCCATCTTTCCTTGCGGCTAATTAGGGATATTATATTCTAGCTAATGAGATGTAAATTGAAATGTTGAGTGGGATATTTGGGAAGATGCCTTTCAAAGAAGGAAGCAAAACCCTCTTCTTCCTGCTGGTTGGAATGTGGATATAATGGATGATGTTCTAGCCCCTATCACATGAGATGAAGTGGAGGCTAGAAAACCATACACAGTAGAACAAAAAATAGAAAAAGCCTAGGTCACTGATGACTTGGTAGAACTGCTACATTAGCCATAAACAGTCTGTCTTCAAACTGCATTTTTTTGGAAGAATAAACTTTTACTTGTTTATGCCACAAAGTACTCATAGCTAGCACAAATTAAGTCTCTAACTGATATGCTCCCATCATATGTTGATCATCTATTTGATTTGTTTTTCCCAATTAAGAGTCTATTTATAGGGGTGTGTGTGTGTGTGCATGCATGTGCACCTGTGAAAATGTGTATATATATATATGTCTACCTTCATGGTGAAACTTTTACAACAACATCCTTTTTTCACTATTGTGCCAAGTTCTCTGGTGAGTGAAATGGCAATAGATCAGATGGCAATGAGTAATGTAAACCTGGATGTCTTCTTAATGCATTTTAAAAATTTTTTTATTTCAATAGGTTTTTGGGGAACAGGTGGTGTTTGCTTACATGAGTAAGTTCTTTAATGGTGATTTCTGAGATTTTAGCGCACCCATCACCCGAGCAGTGTACACTGTATGCAGTGTGTAGTCTTTTATCCCTCACCACCCCCTACCCTTTCCCTGAGTCCCCAAAGTCCAATGTATTATCCTTATGCCTCTGTGTCCTCATAGCTTAGCTCCCACATTTGAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAATTACTTCACTTAGAATAATAGTCTTCAATTCCATCCAGGTTGCTGCAAATGTCATTATTTCATTCCTTTTTATGGCTGAGTAGTATTCGATGGTGTGTGTGTATGTGTGTGTGTGTATATATATATATATAAATGTGATATATATATATATATATATATATATATATATATCACATTTTTTATCCACTTGCTGATTGATGGGCATTTGGGCTTGTTCCATATTTCTGCAACCGCAAATTTTGCTGCTATAAACATGCCTGTGCACGTATCTTTTTCATATAATGACTTATTTTCCTCTGGGTAAATACCTAGTAGTGGGTTTGCTGGATCAAACGGTGAATCTACTTTTAGTCCTTTAAGGAATATCTACATGGTTTTCCATAGTGGTTGACTAGTTTACATTTCAACCAAGAGTGTAAAAGTGTTCCCTTTTGATTGTATCTGCGCCAACATCTATTTTTTTATTTTTTGATTATGGCCATTGTTGCAGGTGGTATCACATTGTGATTTTGATTTGCATTTCCCTCATCATTAATGATGTTGAGCATTTTTCCATGTGCTTGTCGGCCATTTGTATATCTTCTTTTGAGAATTGTCTATTCATGTCCTTAGCCCACTTTTTTGATGGGATTGTTTGTTTTGTTCTTGCTGATTTGTTTGAGTTCTTTGTAGATTCTGGGTATTAGTCCTTTGTAGATTCTGGGTATTAGTCCTTTGTCAGATGTATAGATTGTGAAGATTTTCTCCCACTCTGTGGAATGTCTGTTAACTCTGCTAATTATTTCTTTTGCTGTGCAGAAGCTTTTTAGTTCAATTAGGTACCATCTATTTATCTTTGGTTTTTTTTGCATTTGCTTTTGGCTTCTTGGTCATGAAGTCTTTACCTAAGCCAATGTCTAGAAGGGTTTTCTCAGTGTTATCTTATAGAATCGTCATGGTTTCAGGTGGCATTGCTATAAAAATAGGCTCATAGACAGAATAGAAAACCCAAAAATAAAACCAAATACTTACAAACTAATCTTCAACAAAGCAAACAAAAACAAAGTGGGGAAAGGATGCCCTATTCAACAAATGGTGCTGGGATAATTGGCAAGCCACATGTAGAGGAATAAAACTGCATCCTCATATCTCACTTTATTAAAAAATCAACTCAAGATGGATCAAAGTCTTCAATCTACGACCTCAAACATCCCTATTTATCATTCTTAATGTTTGGATTAATGATTTAATCCAAAAACTCAGGCAAAGTCCAGGGATAGGTTAATATCTGCTAGAGGGAACCATAATAAACATATTCATGAACCAACTGTTATGTACAAGTCAAACAAACAAGTTAATTGTTTGTTAGCAGAAGAGATTATGAGTTTATTTTAGGCCATTAGTGTATATTACTCAGTTAAATTGTGTTTATATTCTGTAAATCTTTAATATTTCACCACAGGAAAGAAATTCAGCCCATATTTCTACTGGAAACTCCCAAAGAAGACTTAGAGCATGACTTAAACAAATTAAAAATTAAAATTAAGCATAAGCAGTGGATCAAGTAATGAATTATTTGACGTTTAAAGCTTTGGTTATTAGTCAGAATTAAGTCTTTAGTGATATAATGGGCTGGTTGGTTTGGTGGACTTTACAATTGTTTTTAAATAAAGAAGGTTTCATTCAAAAGTTGCCAACCTCATCTTTTGGGTACTGTTTCTAGAGTCATAAGCAGGGTCCTCTTCGTTATGCAAATATAAGATAAATAGGCTCTTCTTTCTAATACTCTTACTAAATTCTTGGGTAGGGAATAGGCAAACTGATATAGGTCCTTGAAACTTCCTGGAAGTTTTCTGAGAAATGCATTTAAGATCCCAAACTTCTTTTACTTTAAAAATATTTGAAATTTAATGTTAAAAGAAACTCTCTGTAAAGTGTAGACGCTGCTGATGAGATTCAACAGCAGAAAAACGAGTCCTACAAGAAAATTCTTCAGGGCACTAGGGCTAAATTTGGCCTTGGCATCTTGGCTGATACTGCGATCACAGGAGACTTGGTTTTGACATTTGGTGACTGTACCTAAGAGCACTTTGGGCCTAGCCATTCTAGTACAGTGGCTGCCTTTGAGAAATGGATCTGAACATGTAAATGTAAACTAAATAGCTAAAGTGGAGAGAGCCAGCAAGAGCCTAGCTGTGGACAGGTATGGAATTACTAAAATTTCATGACTGAGTTTTACCAGCAACAACATGTGAAAGTGGTAGAAGTAAAAACAACTGGAAATAGTAGACCAGTTAGATTCTTTATTTCCCTGAAGAATTTGGAAGGTGACACAAAGATTAAGAAACTGTATTATTCAGGATTCTCTAGAGGAATAGAACAGGATATGTATACTGGAGGCCAAGAAGTCCCACTGCATGCCATTTGCAATCTGGAGAACTAGAAAAGCTGGTGGTGTAATTCAGTCTGTAGTTGAAAGGACTGAGAAATGGAAGAGCCTATGGTATAACTCCCGCTCAGAGGCCCAAAGGCCTGAGAACCTGGAGTGAGGGCTGGTGTAAGTCCTGGAGTCTAAAGGACTGAGAAACAGGAGCTCTAATATTTGAGTGCAAGGAGAAGACGAATGTTTCAGCTCAAGAAGAGAATTTGCCCTTCTTCTGCCTTTTTGTTCTTTCTAGGCCCTCAAAAGATTGAATGATGCCCACACCTCCATTGGTGAGGGCAGATCTTTTTTACTTAGTTTACTGATTTAAATGCTAATCTCTTCCAGGAACAAATGTTTTACCAGCTGTCTGGACATCCCTTAGTCCTGTCAAGTTGACACATAAAATTAACCATCACAGAGACCAAAGATTAAGCACTGAATAGAAAGGTATTTATTGTCCTAGTGGGAGTCCAATCCTGCATAGAATCTAAGTGAATAGAAGATGAAGTTAGGGGAGAAACAATTGGGTAGATCTTTTAAAGTCAAAAGATCATCAATCATCTTCCATATGGTTGGGTTCCCCAGAAAACAGACTCCGAGATGAAGATTTGTTTTCTAGTGGGTTACTGGGGAGTGTACTCAGGAATAACACCCATTAGGGAGTAAGGCTAACAGGAAGAGAGTGACCACGATAACTCTACCACCTTTGGATCCATGGCTCCATTGGTCAGATAACCCACACATTTGACGTATCTCTTTCCTACCATTTGGGAATGCTAGGAGACGTGCTGTCACACAGTGTCAAGATGATTCAGAAAGACTCATGGAATTGAGGAGATGCCTGTAAATTAGCTTCTGAGTCTTAAAAAATAGCCTTAAGCACATCATATAATTAATGTATAATATTTGATGTGACTCCATTAATTTCCCAAGATATTTACTCTTTCCTTGTCAGTTCCATTATCTTGCCAGGCACTGAAGTCTAATTACATGTTAGTAGTTTTATCTAATCAGTATCTCATAGCAACTTTTAAATATGTGTTCTGGGTTCCAATTTCCTGACACTTTTGGGGTTTGCCCAGATATCCCTACCCTCCTATGTTTCTCAGACTAAACACTTCACAGTTGACAACGTGCTTTTATAAATTTCTCAGATTGTAAATTTACCTACCACTTTCAGATATGCAAAGAAAGCACAGCTTATGTATTTTTCATAATTTACCTAATCATCTTAAGAAGTCCCCTCTTTATTGGGTAGCATGGGAAGAGGACACTACAATTAGTCCAATTCAGTAAACTCAGTTGAATCCTATAATTTAAAGACCATCTGATGTATAGTTTAGTCTCTTGGATAAGTCTTTGTTTTTATGCTTCGTGCATTTCTGATTCTCTCCAATATCAATCCAAGAATATAGGGAAGAGGCTTATGTGACCTCATGGCAGCAGGGAAGAGGAACAGCCCCTCAGCTATGTGTCCATGTTTTTTGAGCATCTTCTTGTATCTTCTAGACCCAGGCAATGCCACTTTTCCTCTGGTCAGTGGGTTTCCTGTTGGTACCTAATGGCTCAGTCTGTTGTTTATGACATTGGGAGATTTTCTTTCTTGGTTCCATTAAATCCTGGTGGAGTCAGAGCCTTAGGATTCAGTCCTTGACCTTGACCCTTGCTTTTAAGGGAGGAGACCACCCCTTATATTGTCTTATGCCCAATTTCTGCCTCCAAAGAAAGAAGAAGTAAAAACTAAAAGGCAGAAATGAAATCCACAGGCAGACAGCCTGGCTCCATGCCTGGGCCTGGTAGTTAAAGATCGACCCCTGACCTAACCGGTTATGTTATCTATAGATTCCAGACATTGTATGGAAAAACATTGTGAAAATCCCTGTCCTGTTTTGCTCCATTCTGATTACCCGTGCATGCAGCCCCCAGTCACATATCCCCTGCTTGCTCAGTCAATCATGACCCTCTCATGCAGACCCCCTTAGAGTCGTAAGCCCTTAAAAAGGACAGGAATTGCTCACTCAGGGAGCTTGGCTTTTGAGATGCAAGTCTGCCAAAGTTCCTGGCCAAATAAAGCTCCTTCCTTCTTTAACCTAGTGTCTGAGGAGTTTTGTCTGTGGCTCATCCTGCTACATTTCTTGGTTCCCTGGTTCCCTGACTTGGAAGTGAGGTGATTGGCAGACAGTCGAGGCAGCCCCTTAGGTGACTTAGGCCTGCCCCATGGAGCATCCTTGCAGGGGACTCCAACCAGCCTGAGTGACATGGATCCTGACAGCACTCCCAGGTAGGCAATTGCCCTGTGGGATGCCTCGCCAAAGCAGCATGTGGCAGGCCCCCATGGAGGATCAGTGCAGTGGCTGAATGCTGGGAAGGAACTAGCTCTTGGAGTCTGGATATCTGAAACTTGGTAAGACTGGTCTTTGGAACTTGCCCACTCCATTTGAGTGGAAAGGCGTGCCTGCACCGGCATTTTGGTTTTTGTTTTTGACTTGATTTGGATTGCTTGATACTTTGGTTTTGGTTTTGACCTGGCTTGGATATCTTGATACTCTGATTTTGGTTTTGATTCTGGTTTGGTATAAACTGTAAAAGTGTGTGTATGCCCTTTTTACCCATTCTTTGTTTTGTGGTGTGCGTGTGCTGTGAGCGTGGTGTTTTGTCTCAAGGAAGCGTGGGTCAGGCACAAAGTAAGCCCACCCCACTAGGAACTATGTTGAAAAATTTCAAGAAAGGATTTAAGGGAAATTACGGTGTTACTATGACACCAGGAAACTTAGAACTTTGTGTGAAATAGACTGGCCAGCATTTGAGGTGGGTTGGCCCATCAGAAGGAAGCCTGGAAAGGTCCCTTGTTTCAAAGGTATGGCACAAGGTAACCTGTAAGCCAGGCACCCAGACCAGTTCCCATACATAGACACTTGGTTACAGCTGGTTTTAGACACCCCACCTCTGGCCCCCGCCACAGTGGTTAAGAGAACAGCAGCATAAGCTGCTGACAGAGGCAAGGAAAGACCAGCCAAAGGAGAGAGAGGAAAGAGATAGAGAAAAAGAGGGAAAGCGAGAGGAAGAGACAGAGAGACAAAGAGAGAGTCAAGGAGAGAGAGAGAGAAAGAGAGAGGCAGAGAGACAGGAAGAGATAGAGGCAAAAGGAAAGTCAAAGACAGAGAGAAAGAGAAAGAGATATATACAAGTAGTTAAGAAAATAAAAACACAGTGTACCCTATTCCTTTAAAAGCCAAGGTAAATTTAAAACCTATAATAGATAATTAAAGGTATTCTCTGTAACACTCCAATACCACTTTGTTGTCATTTAAACAAGGGCATATCCCGAAAGCACCGAGGACTTCCTATCAAAAATCCTTAACCCAGTAACCTGCGGATGGCCCAAATGCATTCAATCTGTAGCAGCAACTGCTTTGCTAACAGAAGAAAGTAGAAAAATAACTTTTAGAGGAAACGTCATTGTGAGCACACCTCACCAGTTCAGAAGTATCCTAAGAAAAAAAAAAGATGATTTAACATTAACCACTGAAAATTCCCTTAACCCGGCAGGTTTCCTAATAGGGGATCTAAGTCTTAATTACCATACAAAGGTCCAACCAGACCTAGGAGGAACTCCCTTCAGGACAGGACGATAGATGGTTCCTCTCACATAATTGAAGGAAAAAAAAAAAGCCATCTATACCAATTCTAAGTTAATTTGGACTAAACAACATCTATTAATAGCAACAGATAATTAAAATCTCAAACTTAAAAGGTTTTCAACAAAAGTAAAGTTTGCTAAAAGTTAACAGTGTAACATGTATTATAGTAACTTCTAATCTTGTGGCCTTAGACAGTCTAGTTCACCGATATAAAGGAAGTTCGCTTTGGAAAAAAATGGTTATCACCTTCAAAAAAAAGGGAGAAAAAAAGGGAAAAAAAATTGGGGGGCAGAATTTATGTAAAAAGAATGTTATATGGTAAATTCTTGTTCTGAAATAAATTAACTGGTTGTTTAAAGAAAGAAATGTTTGCAATAGAAAATTGAGGCATAGTGTAGAATTGTCTGCGAAAGTCATGAAAGAGAAAAAAAGTTATAAAAAAAGAATTTATGCAAGAAATGCTGTATAATTTAAAAGTAATTAGGCCTCCTGAATGTAAAACAATTGAAACAGTTTATGTGCAAGGTGTATAAGGAAAGTAAAATATACCTCTGGTAAAAAGATTATAGGGAGGCATAAGAAAGTGGATTTTTATCTATATTAAAAGGTTAAAAAATTGTTTTAAAGGTTTAAGCAAGTTTTAAAACAATAATTGTAAAGGAAATTCTGTGTGTAAACATATTGGCTAAAGTTAAAGGAGTATCATCCAGTTTTTCTGTGAACTGGACATTAAAATAAAAGCACAACAGGTTTTTCTTAAAGCACTAACCTGCTCTTTAACAAAAATTATAAAAAAGGTTAAAAAGAGTCTACAAAAATCTTACCTTATGTCAGACATTAAAAATTGGATAAACATGTCTACAAGGTTTTATTAAAATTAAGTTTAACATTAATAACACACTAATATAAAGGTAAAATTTAGCCTATCTGGTGTAAAAATCATACAAGAAGCATTATTAAATATAAAATGGTGTTTGGCTTTCTTTGGTCTAAAAACTAATAAAAATAAGTGCTAAAGGAAATTTCTCAGTAAGAAGGCACCAAAGACTATAAAGTCCACTGTTGATGCTCCCACATTTAAAACCAAAGGTCGTTTTCTTAGAAATTATATACTTGGTTTATCTTCCTCTTTCCTTCCCCTCAAAACTAAAAGTCTTTTAGCACAGGTACCACCCCTAGAATTTTCAGTAAACTAACACCAGCCTAAAGATCACCTTCCCATCAAAGGGTGGAAAGAAGGAAAACTTGAGCCAGCCTAGAAGGACCCTACCTTGTGCTGCTAACCACCAAGACTGCTGTTCGTACAGCGAAAAAGGGATGCACTCATCACACCTGAGTCAAAGTGCCACCCCCTCCAGAGTTGTGGGCCACAGTCCCAGGGGAAAACCCTACCAAACTAAAGCTAAGAAAAGTTTAACTCTTTCATCTATTCTATTACTCTTTCTTCTTTCCTCGCTCTATTGCTGACCATCTAGTTATTAACATAACCAAGTCAATTTCATCTCAAACTATTGCATTTAATGCTTGCCTTGTTATACCCTGTGGGGACTTGCCAAGTCAAGACAGCTCTCTACTTCAGAAAAGTACCTGTGTCCCTCCTGACTCTCCTCAGACTGGGCATTAGTAAATTGGGATCATTAATCCAGGGAGATTTCAATAAAGACCCCAGTGACAACCAGGAGTCTTGCCCCCCGATGTAGAGCTTTTATGCCATAGTCAGTCCAACGTTCTGTGGACCACTAAAGAGCAAGGATGGACTGCCCCAACTGGTTTTTGTAATTTCCTAAAATCATACATTCATTTTACTAGAGGATTATAGAAGTTAAAGACTTAGGGGAAACTTTGGCCATTAAGACAGGATACCAAGGTGCAAATGCCTGGTTGGAATGGATCAAATATTCTGTCCACATGTTAAACAAAAGCAATTGTTATGCTTGTGCACATGGCAGGCAAGAGGTCCAGATTGTCCCCCTTTCCACTAAGGTGGTCCTCCAGTTGACCAGGCGTGGGCTGCATGGTAGCTTTTTTCCAGGATTCTACAGCCTGGAGTAATAAGTCATGCCAAGCTCTCTCTGCTATATCCCAAAGTCCGGCACCCTGAGGGTCAGACCCCGAGGGCCATCTAGCTTCCGTCTTCCAACACTAAGTTCACTTCGTGTCTCTCATGACAGGGAGGAAACTTAGTGTTCCTTGGAGATCTGAAGGGATGCAGTGAGCTTAAGAATTCTCAAGAGCTTATCAATCAGTCAGCCCTTGTTCATCCCCGAGTGGATGTGTGGTGGTATTGTGGTGGACCTTTACTGGGCACTCTGCCAAATAACTGGAGTGGCACTTCTGCTTTAGTCTGATTGGCTATCCCTTTCACCCTGGCATTTCATCAACCAGAGGGAGGAAAAATAAGACATCATAAAGCAAGTGAAGCCCCTTATGGGTCTTTGGACTCTCATGTCTATTTAGACACAATTGAAGTCCCATGGGGAAAACCAGATCAATTTGAAGCCTGAAATCAAATAGCTGCAAGATTTGAGTCAATATTTTGGTAGGTGACAGTTAATAAAAATGTAGATTGGATAAACTACATCTATTACAACCAACAGCAACGAGCTTTTCATGAGATAAAAGAAAAACTCAGGTTGGCCCCAGCCCTGGGGCTACCTGACCTGACAAAACCTTTTACACTATATGTATCAGAGAGAGAGAGAGAAAAAAAAAATGGCAGTTAGAGTTTTGACCCAGACCATGGGGCCCTGGCCAAGGCTGATGGCCTACCTCTGTAAACAACAAGACAGGGTTTCTAAGAGTTGGCCCCAATGTTTGAGGGCCTTGGCAGCAACAGCCCTGCCAGCACAAGAAGCGGATAAGCTAACTCTTGGGCAAAACCTAAACATAAAGGCCCTCCATGTTGTGCTGACTTTAATAAATACCAAAGGACATCATTGGCTAACGAATGCTAGACTAACTAAATACCAAAGCTTGCTCTGTGAAAACTCCCGCATAACTATTGAAGTTTGCAACACCCTGAATCCCACAACCTTGCTCCCGGTATCAGAGAGCCCAGTTGAACATAACTGTGTAGAGGTGTTAGACTCAATTTATTCTAGCAGGCCCACCCTCTGAGACCATCCTTGAACATCAGTAGACTGGGAGCTGTACTTGGACGGGAGCAGCTTCGCCAACCCTTGCAAAGTGACTCTGAAGACGACGACAAGCCCTGCTTCAGTCACACCGGAAGCTGACTGGTCCATGCACAGCCAAAGCATGAGGAACTCATTGCGGGACTCATTTTCCTTAAAATTTGGACTTGTACAGTAAGGACTTCAACTGACCTTCCGCACACTGAGGATTGTTCCCAGTATATACATCAAGTTACTGAGGCAGGACAAAAGGTTGCTACAGTCCTATTATTTTATGGTTATTATAAGTGTACCAGGACTCTAAAAGGAACTTATTTGTATAATGCCATATAAGGTATGTAGCCCAGGAAGTGACCAGCCTGATGTGTGCTATAACCCACCTGAGCCCCCTATGACTCCCGTTTTTAAAATAAGATTAAAGACTGGCAACTTCTGCGTTCTGAAAAACCTCAGTTATTAGACAATATTGTATAGCAAGGGTGAGGAAGGACTTCACCCTTCCTGTGGGAAGACTCAGCTGCATTGGGCAAAAACTGTATAATAGTACTACAAAAACAGCCACCTGGTGGAGTTCAAACCACACTGAAAGAAATCTGTTTAGTAAATTTCCAAAGTTGCAAACCGTGTGGACCCACCTGGAGTCCCATGGGGACTAGACAGCCCCCACTGGATTATACAGGATAAGTGGGCATAGAGCCTATGCCAAGTTACCTGACCAATGGGCAGGTAGTTCTGTTACTGGCACCATTAAACCATCCTTTTTTCTACTGCCCATAAAAACAGGCGAGCTCCTAGGCTTCCCTGTCTATGCTTCCCAAGAAAAGAGAAGCATAGCTATAGGCGACTGGGAAGATGACGAGTGGTGCCCTGAAAGAATCATACATTACTATGGGCCTGCCACTTGGGCACAGGATGGCTCATAGGGATACCGAACCCCTATTTATATACTCAACCGAATCATATGGTTACAAGCTTAGAAATAATCACTAATAAAACTGTCAGAGCTTTAACTGTTTTAGCCCGGCAAGAAACCCAGATGAGAAATGCTATCTATAAAATAGACTAGACCTAGACTACTTGCTAGCAGCTGAAGGAGAGGTCTGTGGAAAGTTTAACCTGACCAATTGCTGTCTGCACATAGATGACCAAGGGCAAGTAGTTGAAGATATAAAGATATAACAAAGCTGGCACATGTGCCCTTGCAGGTGTGGCATGGGTTTAATCCTAGGTCCATGTTTGAAAAATGGTTTCCAGCACTAGGAGGATTTAAAACTCCTATAATAAGAATTATAATAGTAATAGGAACCTGCTTGTTGCTTCCCTGTGTGCTGCCTTTGCTCCTTCAAGTAATGAGAAGTTTTGTTACTACCTTAGTCCATCAAAATACTTCAGCAAAAGTGTACTATATGAATCACTATCAATCTGTCTTGCAAGAAGACACGGGTAGTGAGGATGAAAGTGAGAACTCCCTCTAATGGGTGAGGTTCTCAAAGAGGGGGAATAAGGGAGACCACCCCTCATATTGTCTTATGCCCAATTTCTGCCTCCAAATAAAGTAGAAGTAAAAACTAAAAGGCAGAAGTGAAATCCACAGGCAGACAGCCCAGTACCATGTCCTGGGCCTGGTAGTTAAAGATCGATCCCTGACCTAACCAGTTATGTTGTCTGTATGAATCTGTAGATTCCAGACACTATGGAAAAGCACTGTGAAAATCCCTGTCCTGTTCTCTTCCGTTCTGATTACCAGTGCATGCAGTGATTACCAGTCACATACCCCCTGCTTGCTCAGTCAATCACGACCCTCTCACATGGACCCCTGTAGAGTTGTAAGCCCTTAAAAGGGACAGGAATTGCTCACTCAGGGAGCTTGGCTTTTGAGATGCAAGTCCACTGAAGTTCCTGGCTGAATAAAGCTCCTTCCTTCTTTAACCAGGTGTCTGAGGAGTTTTGTCTGTGGCTCATCCTGCTACACTTTGACTGGCTATCTCCTTGGTACCTGGTCATAGCTCTTAACTGGGGACCACATTGTTCCCAATGCAGTTACCTCCCCTTACAGAATCACCAGTCAGCATCATCAACTACTCTCCATGTCTGCCCCACAGGATGCAGAAATTCTGGAACCGTTTCCACACCACATAGGATTTAGGGAGGTTTTAATTATATTATACTTTTTTTTTTTTTTATTTTGCTTTGGCTGCTTAACAAAGTTTGAGTCCTCGAACTTCTCTTGCTATTCTCCATTCACTCCTTAGGTTATCTTATTCAGTACTACAGCTTTAAATATCATCTATAAATGAATGACTCCCAAACCTAGATTCATATCGCAGACCTTTCTGCTAAACGCTAGACTCAGATACCAACTGCCTACTCAACAGCCCTGCTTAGGTGTCTAACAGGCCTCTCAAACATAAATGTCTAAAATGGAATGCCTTATCTTCTCCACAAATCTACTTCTTTTCCAGTCTTCTACAACTCGGTAAGTGGTGCCTGTGCTTTTTTAGATACAGGAGCCCTAATACCTGATCATTATCCATGACTTTCTCACACCCACATTCAATCCATTAGAAAATCCTTGTGGCTTTCTGACACGATTTTGCTGTGTCCCCAACCAAATCTCATCTTGAATTGTATCTCCTTTAATTCCCATGTATTGTGAGAGGGACCTGGTGGGAGATAACTGAGCCATGGGGGCGGTTTTCCCCATGCTGCTCTTGTGGTAGAGAATAAGTCTCATGAGATCTGATGGTTTTATAAGGGGTTTCCCATTTGCTTGGCTTTCATTTTCTCTCTTGCCTGCTGCCATATAAAATGTGCCTTTTACCTTCCACCATGATTGTGAGTCCTCCCCAGCCACATGGAACTATGAGTCCATGAAACCTCTTTTCCTTTATAAATTACCCAGTCTTGGGTATGGCTTTATCAGTAGCGTGAAAACGGACTAACACACTCTCTTTCAAAATTCATCCAGATTCTGTATTTCTTACCACCTTTCTCACCCTGGGCCACGACACCATCCCCTCTCTTCTGGATTAGCTTCCTTATCTCAACCCTTGACATAAAATCTACCTTCAACATAGCCTCCAAAGGGATTTTTAAAAATGCACGATTATCTTCTGTTAAACATTTTCCAAAGGCATTTGCTATTTCCTATGCCTGATACCCTCTTCCCTCAGATATCCACATGGCTCATCCCTCATTCCTTTAGCTCTCTACTCAAGTATCGCCTTCCAGTGGGGCTTTCCCTGATCTTTTAACAGTCATCTTAAAAGGCAATACCTGGGCAGGGCAGTGGTGGCTCATGCCTGTAATCCCAGGACTTTTGGAAGCCAAGGCGGGCGGATCACAAGGTCAGGAGATTGAGACCATCCTGGCTAACACGGTGAAAACCCGTCTCTATTAAAAATGCAAAAAATTAGCCGGGCGTGGTGGCGGGTACCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTTCAGCCTGAGCTACAGAGTGAGACTTCATCTCAAACAAACAAACAAAAATATGCAACACCCACCCCCAACAATGGAAACTCCCTGCCCCATTTTCCTGCTTTACTTCTCTGTAGTACTTATATTCCCACATGTATGCATTTATATATTTGTTATCCCATTTTCTCAATTGGAAAGAAAAGCTTATAAGTTTAGTAACTTGATTCTGCTAATTACTTTATCCCCCGTGTCTAGAAAGGTTCCTGGCATGTAGTGGGTACTCCATTAATTTGGGATATAATGTCTATTATATAGCTTACATCAGAATATAAGAAAAGTTCAAGAACCTTTTCAGCATAGCTTTGCTTCAGTTCCCTAATCTGGTTTCTCTGTTTGACGGCACCAGCAAAATTATTTTATGTCTCCCAGTGATCTGTTGGGGGATTCTGTCCTTCTGTCTTCTACCTTATGGTCTATGGGTTTATCTGTTTACCATCTAATTTGTGAGGGAAGTAGGATGGTACCTTAATGTTGAAAATCCAGCATTATGAAATTTGGTATTATTATAAAGATTTGACTAAAATTTATGTTTCGGACAATTCTCAATTTTTTTTTACAAAGATACTCAGCTATAACTGAGGTGTAAGAGGACATAGTTTGTTACATGTAGGCACAGATTTTGGGGAAAGAAATGGGAGGTAATTATACTACCAATAATGTTAAAAGCCACTATTTATTTAGTGTCAAACTTGTGCCAAAAACTATGTGTACTACCTTCACAACAGCCCTAGAAAATAGATATTGCTACTTCTGGTTTACAAATGAGAAAACCAGAGCCTGTCATTAATAACTTGATCCAAAGTCATGAGTTTAATGAGGGGCTGAGCTAGGGTTGTTGACTCTAAATTCTTTCCACTATACTGTGCTGTATTCACAGTAGTCTCCAAAAAGATACTGGCAGCCTACTTGTTTTTGAAAACTCTTTGAAATGCTGTTTTAAAATGATCTTAGGCGCCTTTTAAAGAAACATAGCAGGATAGCTTCTTATATTGTAAACTAACCGAGCCCACAATTTTTGTGACTATGCATGTCATCAAGCTTATTTGTTTAAGATTACATGCTGGCTAATGATTATATTGCTTTGCCAGTTTCCATGATTATAGAGAGATTTTTCATCTGGAACAGTGGAGGTGGCCTTTGACAGTGCAGAGGAGTGAGAGTGGACAACACAGTACATCACAATGGTAAGTATGTGACCTGCCTCCACCCTGAGCTTCTGCAGAAGCAGCAGGACAATGAAAGGAGAAGAAAGGTAATTACCTACATATGAGTGATGACTGCTGAAAACCATCTTCCCCACAGTGGTTAGACCCTGGGTTTTATGGTCTTAACATTAGCACAGCAGGACCTAATGCTGATAGCCTGGAGCGGGGAAAGCTACATCTTTCACTTTGGTGCTCTGCCTCTATGGTGTTTCTCATCGCCCTGCTGTGTTTCTTAAAGGTCTCAGGGCAGTCGTCCATCAGGGGTGACATCGATCATGCCCACTCATAACTTAGGCTTGTTACCTCAAGTCACATTGCATTGCTTCTCTGAAAGCACATAAATCCTTTATCCCTTTTTCAGGAATTCTGTTCGCCTACTTCTGTGATTTCATACACGGCAACACTTTGGTAAAGGTAGGCTGCTCTTTCCTAAGGCTGCAGGTTCATGCCTGTCAAACCTGGGCTAGAAAGAAAATATGCCCTGTAAATCGCTCTGTGCAGTGATTTGAAAATAATGATGTGACTCATTAGTATTCACAGGTAGAAAATGGAACCTGCTGTTTGTGTTCAGTTATTAAACAGTGTAGATGTCTTCCTGTAAAAAAGGTGGAAGTGGCCTCTACAATCATTTTCAGGTGTAAAATTCCTGCACACTACATCCTTTCCTAATTAATGTCAGTTGTACATTCTGCATTATATTCCCCTAGCACTTCTGGGCTGTGGATGTATTTATTATCATATCGTTTGAGAAGGAGGGCAGTGATTGACAACGATTCTCTTTACAAATCCCAAGTGGTGTGTAATTTGGTTTTCTAACTGTGCATGTTTGCACAATCTGCTTCCTACTCCAGCTAGATTACTATGAGTTGAAAATGCTCATCAGTGTGGAATTATATTTCTCAATATCTTGAGTCTGTTGTATGACTCGAGTGAGGACAAAATTTGAACATTCTAAGTATTAGGGGGCTCCCAAGTGTATCAACAGGTGATCAGAATGCACTATCATAGCTGCTACAGTAGATATACCAAGGAGGGCAGTGGAAGCACAGGTGCAAGCCAATAGAAGCTTCACTGAGAAAAATAGCACTTGAGTTGGGTCCTGAAGGATGGACAGGAGTTTGACAAGCAACAGGGAGAAGGACATTTTAGACTTCATAAATATGGAAAATCTTGGAACAGCAAGGCCTACTTGAAAAATGGCAGTTATAGCAATTACGTTATCTTTCTTATGTTATTCCCTCCCTAGTTGAAGCCTTTTGTTCCTTGAGTTATATGGAATTTAATATGTCTACTTAAATCCTAATGATAGGTTCACGGTCTTATGGTAGGGTGAGTACTAGGACAGAGGGAGCCATGAGGCTTACAAAGTGCAAGAGGTTTGAGTTTTAGGAAGGCTTCTCTCCTTGCTCTGTGACTCAGTTTCCTCATTTACAAAACAAAGACATCAACTGCCCCTGGTCTAAAGGTAACTGAGTGAAATATGACAGGCATCCACAGTCAGTAGATGAATTCTCCTCCTTGGGGGCTCATGAATGTTTCTGGTGGAGGCAGACAGAGGTGATGTGGAGCCCCTCTGAGATGTACAAGTCCAACATCACCAATGTGCACTTTGGAGTTATACTCACATGGGTACCTCAAGGCGTTGGGAAACTAAAACGTACCTCTCACAAAAATGTTGGGCACCCCCACATATGGAAAATGCTTGAAGTCTCTTGTTAGTCTAGGATATGCATATTATTCCTTACATATACTATCAGAGGATTTGGGGTGACTAATTTTAGGAAAAAAACTACCAGGAAAATACACTCATAAGTCTTCAGAGCATCTTTCAAACTAATAATCTGTGAGCTGTTATTAGCAAATTTTATATTCAAGAATAAGAACAATTCTCTAGAGGGGAAGAACAAGCCCTCACTGCAGTGGCAGAAGAGGAAGCTGAGCAGAAAGAACAAAACTGTGAAGGCTTCTTTCCTGGGATCCAGTTGTGAGTTTAGCTTTTCCCTGGATTTTCTACGACACTGGTATAGAGACTGACATTTTCCATGCCATAAGTAATTAAAGTATTCCAAAAGCTCTAAAAAGGTAACTCATAGAGACCCATGGGTCCTCAACAATGCTCCTGAACACAGACTCTAAGGAAACAAGGAGCCTGAAACCCCTTCATTAAACCAGGAAGATAGGACAGAAAAGAATCCTTCCTTCTTCCCTTCTCCTTAAACATTTCAAAGTGCTGAGCTTTGCATGTCACACAAGAAGACAGCCTAAGGCTCACTCTCGAAGGAAAGACTCATTTCTTTTCTGGCTCCCGTGGTGCTGTGGATAGTTCTCAACCTGGACAAAGGAAGGTGTTAAGTGGGCTGAGCTCTCTGCCTTCCTTTTCTCTGCAAAGAGAAGGCAAGGCCTTACTTTCTTCCTTGGATGAGAGGCAACATAAATTGATCACACAACTATTGAAGAAGAAAAAATAGTAAGAAAAAAATAACTAATTTACCTGATTTATGAAGGTCATTAACAACCTACTAGGATGTTCTGATTCAGTTGAGACAGTAAATTTTATGTGACAAAGATGACAATTGAGAAAAAGTGACTGAGAGAATGCAAATGAAGAAACATTTTGTTTTTCCCTTGCCCTCACATTACATCTTCCTTACTTCTTACTATGAAAATTCCTACCCTTTTCTATCACATATACCTGGACTCTTTTCCAGATTGAACCTAAGTCATGCTATCTTGTCCTTCATTTGGACTGATGGGCCTAACTCAGTGCTCTTGGCAGTCTTGTGGTTTGGATTTTCAATTTTCTCACTGTAGCTAATAGTCTCTTTTATAGGCTGGCCAAAGCATTCACTTTGAGATTCGATAGAATCTTCCAAATTGGAAGATAACAATATGCTTGGTGTTGGCTCCTTTAACTGAAAATGAGAAAAATCATGCAGACATTGCAAGGCTAAAGGTTGTTTATCTCCATATTATAATTTCATTCTTTCTTTTTTTTTCAGATACAGCATGACTAAGCCTGCAAATTGTAAGGGATCTCAGTGATCACCTATTCTAATGTTTCACAGAGTACACAGTATGATTCTAGACTGTACATGAAATAATTATTTTTTAACTTTAAAAATTATAAATAGGCAAACATTTATTTTTGTATGCATTACAAAAAATGTTGAATAGTACAAGAAAAGCATGATTTCAAGGATATTATTATATAGGGTGAATATACACATGGATATGGCAATAGTTGTAAGGGTTTTATGGGTGGCTAAAGCTTGGAAAGCACTGACCTACCTACATTTTTCTTTCAACAGCTGGGACAACTGAGACCCAGGAGACAAATGATTAGGTCAAGGTCATTCAGTGAATCTCTTGTAAATCTGGGGCTTAAGCCAGGATTTGGGACTCTTAATTCATTCATCGTATTCTCTTTTTTCACAAATGTGTAACATTGTTCTTTGCATACTCACATATCAACAGTTTTTTTATATTGCTAAATCATGCATTTAATTTCTATGTATTAGATATAAAATTTTAATTTGGGAAAAAACATTTAACAGGATAGTTAATGAATACAGAAAAGTGGTTTTAAAGGTAGTGCCTGTTGGGCTTGGCTGTAAAATCTGAGATTGTATATCAGCTGTCAGCCTTTCATGTCTTCAGCATGCAAAGCATGCCTGCCATTCTCTTTGGATTGTATTCCATAGTTAAGCAAGAGCAGGAAACTTTAAAGACCTAATTGAGATACCACAATGGGATCTGTTTTCGATGAAATCATATCTGTCATCCACTTATTCTGACTATTCAGTCTTTTTCTTCCATAATTTTGAAACTTATGTCCCTGCTACAATGGACCACCGTATTAGTTCATTCTCACACAGCTATAAAAAACTACCTGAGAATGGGTATTAAGAAAAGAGGTTGAATTGACTCACAGTTCCACAGGCTATATGGGAAGCATGGTTGGAAGGACTCAGGAAACTTACAGTCATGGCAGAAGGGTGAAGGGGAAGCAAGCACCTTCTCCACGTGTCGGAGTAGGAGGAAGACAGACCGCGAAGGGGGAGGTGCTACATACTTTTTAACAACCAGATCTCATGAGAACTTACTCACTATCATGAGACCAGCAAGGGGGAAATTTGCCCCATGATCCAATCACCTCCCATCAGGTCCCTCCCCCAACACTGGGGATTAAAGTTCAACATGAGATTTGGGTGGGCACACAGTGCCAAACCACATTAACCACTAACAACAGTAATCATAGCTACCGCTCATTAAGTTCTTTTTGCCAAGTGCTATTCTAAGTACTTTTTACTTATCTAAGCCTCATAAGAACCCCATAAGATAGGTCCTATTATTATATCCAATTTAAAAATCAGAAAACTGAGGCACACAGAGGTTAATCAACTTGTACAATGTTAGAGAACTAGTCAGAGAGTTTTATCCCAGGGAGTCTGCTCCAAGGTTGTTGCAGTAACCTTGTCTCAAGTCTTTTTAAGATTTCTCTATAAATTTTTATTAGCTTGTATACTGCGATAGCACTGAAAACTCATTGTAGTATGTGTATAATTGGATGATAAAACTTGTTTAAAAACAGCTTTGTTTTTCTAATCTTCATGTTGTGTATAAAAATACTGTCACACATAATTTGACAAAATCCCTTAAAGAGGATTATAGAGGGCTGGAAATTGGCAGGATAATTAAAATGAATTTTAGGCAAATTAATTTGAAAACTAGAGAAAGTAGAAAAGATGAGGTAAGGAAGTGCAATGAGAATGGTGATTCAGAATGAAGATAACAATAATAGCATTTAACAATGGTAATAATAATTGTATCAGCTACAATGAGTTGAGAACTTAATATATGCCTAACACTGTGTTACATACTTATTTGTATATTGTCTAAATTCTTAGAACAACCCTTTGAGGTATTTATCATCACTCTAATTTTACAGGTGAAGAAACAGACTCAAAGAGGTTACATTATGTGTTGCTGTGATCTAGCAAGTGATAGCAGAGTTGCGGTTTAAACTCAGGCCCAGCTGTGACATTCTATACTTTTCCATTCCTGGGAGCTCATAGAACTCAGACACCTGATATGTAATGCAATGTTTTTTGTTCTATTTTTAGCTTGAGTTATGAGTCAAGAACACACTGAATATTTTTCCTGCTTGGATGAGCCTCCATTCTCCAAGTTAGTTAGCAGGGTTAAAGAGAAGTTTGGGGGCATCTCAGCAAGAATTGCTTTCAAAAACCTCTTAAGCGGCTCCATCTCAACATTTATAGTAACACTTTAATTTTGATTTTGACTTTCTGATCCCTCAAAAGTATTCATCTACCTCTATTAATCACATTATTTATGAGAGAGATATAGGTCTGGGTATCCGTTGACCTATTCAAGAATCTAGTATTGTGGATTTGCCATTACAGAGGCATCCCAGGAGAAAATGGTCCATAGGCTACAAAGGCTCTTCTCAAAAGGGTGTTCTAAAACTGTCAAGGGCAGCCTTTATGGAATGAGTTTATAACCTTCTAGGGTGACAATTTTGAAAGCAACATACTAATTTGGATATCTGACTCATTTGGTCAAAAAAAGTCCACAAATTTAATGTACAAAACTTCATACACACACACACACACACACACACACACACACACACACACAGTCCAACTTTCCAAAAAAGCAACCCCCTTGGTTAAAAAAATTCTACCTTAGATTGGGTTGAGATCTGTCTCTGTAATTCTGAAATTCCAGCCCACATCTTCCAACATGTCCTTTCAGAACAATAAAGATCAAGTGTGTTCCCTCTTCCAGATGAAAGCCCCACACATATTTGAAGACAGTTTTCTGGTTTTCCTTGAATTGTCTCTTCATGAAGTTAATCAAATTATCCTTGAAACTTCCCTCCTCCATGAAAGACTAATAAGAGGATACTTCCTCTAGAGAGTTTTAGTGCCAGAGATAAGCACAGCCTAGTTCATTTCTACTTTAAAAAATGGGATATGTGCAATGATAAAATGCCACTCGGCCTGTTTTCTCTTTGCAAGGCAGGCTTTAGGATGATGATAAATATTTGTCTAGATTGTGCAGCTGAGCCATATGTAAATTTGCATAATGGGACTCCAGGTGATGTGCTGCATGGTAATTACTTGTTACTTGTAACTTGATAAAGCTGGAATTTAGCAACACACTTATGACTGAATGCACTGTCAACAAACCAAGAGCCCTCAGCTTGTCTCCTTGTCACCTTAAATGGTGTTAAGGAAGAGGGAAGAGGTGGTAAGAGTCAGTGGAAGACTGATTTGTTAGACTTCTCCAAGGTCACAAACAATTTCTAAGAATAGCACAAGATGTTTGTTAACAGTGCAAATGTTCTGATTTGATTGGTCCACAATTTCAGTCTTTGTCAAGACCAATTCGGCCAGACGGATGAGTGAATTAGAGGAACAATGGGTATTAAACACACATTATGTTTCATATCCTGCAGTGGTTGCATGAAAGAGGAATCCAGGCTGCAGTATTCATACTTCTTGCTCTTCTCAAGAGCATTTGTCTCCCTGGATAAACACTTCCTCTTAGGCAAAGATCCTGCACTGTCCTATAAAGATCTAAGGAAGTCAAATCAAATCAACAGATTTAACAATTCAAGTAAAAAACATTGGGTTAGGTGCTCGGAAAAAGGAAATGAGTAACACATTCCTTGCTTTTGCTTTTTTTGATAACTTTTTTTATTTTGAAATGATTGCATTGCCTTGATATAAATAATAATTACTTAAATCTAGGTGATATGGCAATTGTTGATGATGCAGTGTCAAATATAAAAATAACAGATTACAAAGATTGGTTTGTGAAGATGTGTAGTGCAGTGAGTAATAAAGCACAACTTTAGAATCTGAATTCCTACCCCCACTTGACATATTATATAACCTACCTGATCCCAGGTCTCTTATCTTGGACATAGAAATGATGATGCATAGCTCTTACACCTCATTACTAATGAGATAATGACTGTAAAATGCTTTGGAGAATGCCTGGCCCCTAGCTGAAGTTCAATAAATATCAGCTATTAATGTGATATCTGCACTGTGCTAGAACATTGTGAAATTATGAAAACAGAGTGAACTTAGAAAGGCCAGTGGAAAATACACAGTGGATTAATCAATATGAGAGGATTTGAGGGACATATCTTTTGATTTATCTTGAAAGAATGTTTGAATGACAAGAACAGATTCTAAAATAAAAACTAAAATTATTAAATGGAAATAATTTTAAGCAGAAATTGAAGACTCAGTCTCTCCTATCAGAGACCTCATAGTCTAGTGGGGGAGACACAATTGTGGGGACACACTTTAAGTATAATTATTAAATGCTAGAACAAAGCAGGGGAAGATGAACCCTGTGAGAGCAGAAAGCAAACGTTTAGAAATACTTCTTGGAGTCAGTAATGTCTGAGATGTAGATGGAGGGAGCAACAATGGTGGCATGGTCAGTAGGACAGGAAAAGAGGGCAACTATTTTGTGCAAATCCTCATGGCAGGTTCCAAAAGGTACAGATATGGATTAGTGTGATACATGTTGGTGATAAATCATGGAGGGTCTTAAACATCAAGTCAAGAAGTTAGGGCTTGGCTATTTATTCTGAGTTCATTGCCTAAATACTTTTTATATGGCATGAGAATGCATTAGATCCTGCCTTTTTCTTCCAGTGATTAGCTTTTCAGCATATTAAAAAATGGAGAGTGATAATGATATGGACAGGAGACAGGAGGGTGGGGTCCCTGGAAAGGGCTCCACCCTCAAGCCTGGACCCACAGTTCTAAATGAGAACAGGCATTCCTGTTTTTTCACCTAAATGTTGACTTTTGGCCCACTATGCCCCTCTAGCCTGTGCCCATATAACCCCTAAACCCCAGGCTCCATAAGCAGAAGAGTAGCAGAGTGGCAGAGCAGCATGGCAGAGAAGAAGAAGAGAGAAGTGTCTGAATGTTGAGAGGAGTTTGGCTGGGGGAGGTTGTGGTGGAGATCAGCCATGGGATGGCCAAATCCCAGGGGAAGATTATCTTCCTACTCCATCCCCTCTCCAGCTCCTCATCCCACTGAGAACCAGCTCCATCACTCAATAAAATCCCCGCATTCACCATCCTTCAAGTCTGTGTGACCTGATTCTTCCTGGATGCTGGACAAGAATTTGGGACACACTGGGTGTGGTAACCGAAAAAGGCTGTCACACTGACTCTTCACAGAGCTGTTTAACACTCAAGCCATCCCTGGACAGCAGGGCTAAAGGAGCACTGTAAGACCCCTAGACAGTGCTGTGGGGCTGGAGCCCAAAAGTGCTCATCCCAGCTCCTGCACCTGCTCACCTGCATACTTCCCTTCCTGTAAGGGATTTGAGCACATGGTGGCCGAATAAATGAGCCACACCATCCCATAAGGGGATCAGGGAATTCTCCCATTTCAATAATGTTTTAATTGAGATGATTTGGGCATAAAAAGACAACCAAAAATATGCCACCCAGGAATGGTAGTGTCTGAGCCACTAAAAGACATGCATTTTACCCATTTTATAGGGATTCTGGGAGTGAAAACAAGAAGCCATGATCTTCTTCAGCATCCCTTTCTACAGCATCCTCATGTGAAAATTGGCATAACTAGACAACTTTCAAACTTCTGGATAAATTTGAGAATAAATATATGGCATTTGAAAACAGAGTTAAGTTTCTACCTCCAAAACAAATCAATCTGCTTGTACTTTTTGATGTAAAAATGGATCCAGGAGCCAAGTAGAAGAAACCCTTCCTTTTGGAATGATTGACCTGGCTATGAATCCTGGCTCTGCCATCACAGTTCTGTGTTACATTAGGTGGAGTCACGGGACTCTCTGAGCCTCAGCTTCACAGACATAAAAGAGGATTGAAATAAGGCCTCCTCAACAAGGAAATTCTAGGAGACTGATGGAGAATTCCCCTGCTCCATGCTTTTAGAGATTAAGCTGGGGTCATTTACTGGGCCTGGACCCAATCTGCCTCTTTCAGGATCATGAATATTGTTTATGCAGTGAACATCACACAGGAAGATTTTTCAGTTTTCCAAAGTAATATGCTTTCTTCTCCATGAAACACACACAGGGTTCTCTTGGTTCATCTTTTATTTTTTCATTAGAAGTGCATGATACTCCATGCCTGATATTGCTTCAAACACTTTATATATATATTAACTCATTTGATAAATCACAATTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGCAACTTCTGCCTACCAGGTTCAAGGCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGTGCCCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTACCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGGATCCACCCGCCTCGGCCTCCTAAAGTGCTGGGATTGCAGCGTAAGCCACCGAGCCCAGCCAATCATAAAAAATTTTGAGTGGATTTTATCGTTACTCCCATTTTAAATATGGGGTAACTAAGGCATAGAGAGATAAAGTATCTTCTCATGATCATACAACTAGTAAATGTTTGATTTGGAGTTTAAATTTAAGCAGTCACCTCCTGAATCAATGGGCATAACCACTGTATTATATTGACTCTCTTAGATAGAGATGTGGGTTCTTTCATTTACCATAGTCAAAGCAATAGCATAAGCTCTTAGTCTAAGTGTTGGAAAGTAATAGAGAGTAAGGGAAACTGACAAACAAAAGAACGCATGACTCATCTGAAGGTGATGGCTCTACTCACATCCAGTGTCGGTTGCCATGGATGTCCTTGGACTAGTACTGCCAGCATAAATATTCTGATTTTTCAATAAAGGCCAGAGTTCAGAATTTTAAAATGTATTCTACTGATTGTTAGTTGTTTCAGACTAATTACAAAATTTTAAGAACTCAACACAAGCCATCCGTGGTTCACAGGACAATAGTTTGTGTTGTCAGTTGAGCACATTAATAGCTTCATGGTTATAAGAAAGTCTCTGAAGCCAGATTTCTAGTTCAAATGCCCACCCCATTAACAATGAGAAAGTCATTAACCTTGTTTGCCTTAGTCACCTTGTCTCTAAAATAGGCCTCATGACATAAGTGAGGATGCATCCTTCAAATTATTGGCATAAGGATTAAATGAGTTAATATTAAGATTCCCGCACAGTGTCTAGCACATGATAAGCATTATGTTAGTACTTATTATTATATCTTCTTATAATTCTGCTCCATGACATGAAATCAATCATTCACAATGAATGTAGAACTTGCATAGCTCTGGGTGGTAAGTAAAGTAGCTTTTCTTGGAAAAGAATGTTCTGTGCAGACATCAAATAACTGACATCGAAAAACTATTGATTTTATAATATTTTCCCTATTTTAACCTCAGTCTATATTCTACCTAAATTTCCATCAAGGGGGGCCCAGAAAAAATTATGAAAAAATTATTTCCTCATAAAAATAAGAACTGATTTCTCACTTTTATCTTCCCATCTTATTTGTTGTTGCTGTTTTTAATAATATTTCCTCTTGCCCCTTTTTCTGGGAATAATATGAGCAGAAGAGGAAATAACACAACCCTATAACAGCATTTACAGGGTTCCCACAGTGCACAAAGAGAAGTGCTTAATCCTATAGGGAGTAATAAGAAACTAGATGACTTTTGCTGAAAAGAAAAATTAAGGAAAAGAGAAAAAAATTGATCAGTTTTTTAATATAACAGTAATTAAACAACTCCATTAAACATCTGCCCAAGAACAATATTCTCTATAGATGGCATGAGGATGTGAATTTGAATCAGATGAGGTCCCAAGGACTTCTGCAATGTGCTAAAGGATCACTTGGGGAGATTGTTAAAATGCAAGTTCCTGAACATTACTGTAGGGGGTCTGTTAATTTAGGTCTGAGTAGGGTCCAGGTATATGTTTATGTTCATCAGAATACTAGCACTATACATGGACCACACTTTAAGAAACACTGTTCAAAAATAAGGGTTTGGGGGATTAGAAAATGGGATTACCGACTCAATAACCTCCTCTCCCCAACTGACTTTTTAACTAAAAGATTCTTGAATATTATGTATTATGAGCCCACCCCAGTTCACGGGGATGAATGTTGATTTGATTAAATCATTAGCTGTAATGCCAATCACTTGACAGGCATTGGCATGAGAAGTTACACAGGCCAGTAAGAGAACATGATGGGTGTTTAGGGAAACTTTCTCACTCTGATTGGAAACGGCAATGGACCAAACCACTGCTAATTTTTTTTCTTTGCCCCTCGATGAAGCTGTGTGGGAAGACAGTGTCTGGAGTTGGCAAAGCCATATCCTAGCATAGGCAGAGTAGCCAGTATACTAAGGATGATGGAGAGGAAAGAGGGAAGAAATGTAGGTTCTTGATGACATTGCTAATGATTAAAAATAACCTTTGAAATACCTTGCCACTGGACTTAAATACGAAAATAAGCCCTACATAATTTGAACTACTTTAAGTTAGATATCCTGCTATTTGAAACTTATAGCATCTTATGATAGTTTTATTCCAGAATGCTCTAAGGAACAGACCATAACATGTTGAACTTGTAAGTGCAGCAGATAGAATGGAAGACAGTGGCAACTGGACCACTCCAGGCTGGGAAGTTGGAGATACCCATTATGCAGGTATTTGATCCAACTGCCACTTGTTTCTTGTGATGCCGATTATATTCTGATTTGGCTCTGAGTTAGAGGAAATGAGAGGAAAAATTCAGTATATGAGGGATTTGTGACTGTTTATAGATTCCTTCATAAGATTCTGCAAGAGACACATCTCCTGAATGTGGCCCATGTGAGAACAAAGTTAAAGAAAACAAACTGCTAAGAGAGGTATTTTATACCCAGAAGCTGAAAACTGTGTTGACTGAGAATCTTTTAATTTGAAGTCTTGCAGTGTTGAAAAAGCCTTGCAGTGTTAACTGCCCCCCAAGCTAAAGCTAGTTTATGAAGCAGCAGGGAAACAGAGACTTATCAGAAGATAAAATTAAGCAGTTTGGTGCTTCGGGCCTCTTGCAAATACCCCATTATTAATTACTTCTAAATGAAAGAGAGGCAAGTCTGTCTGTGAAGACTGAATAAAGATGGGAACTTTCTCAACAAAGGCCACACCTTTCAAAGGTCTTAAGGAAGGGGCCATTAAACCAGTGGAGAGGGAGAAGGTCAGGTTTCCAAGATCAAGGGACAGACAGTGGGTAGGAAACAAGAATTTTGGAATTAGTGACCACGTCCAGTCAAAAATTTTAGCTGTGTTTAGTAACCCATGAAATTGGAAGTAAATAGACTGCATGTATGCCAAGTTTGTATGATTACTGTGTTGAAAAGAAACACTGATCCTGGCCCAGAACAGCTTATGAATTATAACCCCTGAGGCAAATTGCAGGCCTCTACACCTGAACAAATATGCAGGGGGTAGCTACTGCTGTGCCTCCTACAGGAATGCAGTCTCACATTGCTCATCTCAGATGTAGCCAGGGAGGATCAGCCAATCTGAGAGCAGAACCAGGTTTGTGGAGGAGAGGACACAAAGGGAGATCTTCCTAGAGTGCAGAACCAGGTATTCAGAGGACTGTGGACAAAAGCTATCTCCACCAGATGGCAGAACCAGGTCTACTGAGGACAGGGGACAAGGGCCATCTTCTTAAACGGCAGAACCTAGGCTTCCAGACTGGCTGTCCTGAGAGGTGACTGCACTGCCTGGGCTTAGAATCCTCATGATTCCTGTCCAGCTGGGTAGGGATGGGTATACACCAGGGCCTCTGCATTGTTTCTTATTCTATTGCTGTTCAAACGTAAGTTTTCATGGCAGTGAAAACTGCCTTGCAGTGTTAACTCCCCCACCCCGCCTCCCCCAAGCTAAAGCTAGTTTATGAAGCAGCAGGGAAACAAACTTATAAGATAAAATTAAGCAGTTTGGTGCCTTGGGCCTCTTGCAAATACCCCATTACTACTTACTTCTAAACGAAAGAGAGGCAAGTCTGTCTGTGAAGATTGAATAAAGATGGGCACTTTCTCAACAAAGGCCACACCTTTCAAAGGTCTTAAGGAAGAGGCCATTAAACCAATGGAGAGGGAGAAGGTCAGGATTCCAAGGACAAGGTACAGACAGTGGGTAGCAAACAAGAATTTTGGAATTAGCTGCTTCTGTTTCTCAGTGTATATTTGTGTGTAATTAGTAAATTATTTGTCTTATATCCATAGGGTTGTACATAGGGGATAAATGAAGAAAACACTGCATCACCCAGATGTCCAGAACTTGGAGCCAGGTGCTCCATTTAGAAAGGAAAAAAATGAGTGTCATTTAGATATAGACATGAATGGTATCTCTGAGTATCATGCAGCCAAAGAAGTAGAAGGTGATAAACCATTTCTGAATACCCAAAGTCTCTTTCCGCCTCCTACCACTGTGGACTGCCATGTTAAAAGGCTTGAATTTTCTTCTGGTATTAGGAAACCACGTGCTTCATGGAGCCTCTCCCCAGCCTGGGGGTGAGAAAATTTGATAAGTCTAAGGCAATCATGGCAAAGTCATGATCAGCAACAGTCATTGGTTTAAGTATGGGCTGTGACTACACCCTGGCCATTTAGCAAAAGAACTTTCTTAGAGATTTCTGGAACAGGTGTGCCTTCCTGTAAAAAAGGGGTGTGTGGGAAAACCCTCCCCATACCTCTGTTAGATGCTGTGAAAGAAAAGCCTCAGCTGCAGCAGTCATCTGGCGACTCCCTTGGAGTATGACATAATGACAGAGCAGAAACATGGATGAAACCTGGGTCCCAGTTGACATGGTGCAGCCTCTGAATGAGCTTGGATCTGCTTGGCACCTGACTTCTTGTGAAGTGAGATAATGAAGGCCTGGTGTTGAAACAGTTAATTGGATCCTGTTACTTGCAGCATTAAACATCCTAAATGATTGATATAGACAAGTCTTCCTTAAATACTACGTACAGGGTCTGTATAACATTCATTTAGCACTTAGGTTTTTGAGTCGAATGAGCATCTGAATTTGAGGCCAGACTCTGCCACTTAGTAGCTTAAACAAGTTGCTTCACCTCCTTACCTAAGTTTCTTGGTCTATAAAAATAAAGATAATAGAAACCTATTTGATAAGATTACCGTGAGGCATGAGATAATGTACAAGCAGTAAGCATTTAATAAATGTTAACTGCTTGTCATGATTACGGTATTGATAAACAATATTTTAGTTTTACCCTGCAGTAGAAGCTATTGTTAGTGTAGCATAACAGCACTCTGATTTGAAGCGTATTCTCCTTCATTTTAAGTAAAACAAAAATGCCACTTATTCCTGGCTTCACTGCATCAGAATTAGGCTGCTAAAGAAAAACAGAAGCAAGTTTATTTTGCTGCAGTGGAACATTTCAGCCCTTTCCTTCTTAGTAGATTCGCTGGATTAAACAAGCATAGATGCGTTCCACAATTATCCAGGTGGCTCAGTTGGAATGTGTGATTCATGCTGATCGGGTAATTGATGGTAAGCAGGAGATGTCTGAATAGGGATGCTAAATTACTTTCACCATGGGAATAGATTGTGTTGGCACTACTGTTGCTATATTTATTTAAACCACACAATCATTGTTGCCATTCTCTCTGCTCCTGGAAATTGGATGTGGCTATTTATCCAGGATGGTAATTCATACATTCATGGACCACACTGGAAATTCGAGTCCAATCAAGGACCAGTGATGAAATGAACGTACAGAATGGCCCAAGCTGAGATAGAAGGAAAGGGTAACATTCTCATAGTATACAATTTCTCAAAAATTAGATTATAAAATCACACAGTATATTTTTATGAGGAAGATTCCCATGAATTCAGTAGAAGTTAATTTGTTCAACACAGTTCTCTGACGCTGCCCTGTACCAGATGATGATGATGACATTTTATTTCAACTAGTACTTCCAGTCATGTTGCAAAAGTCAGCCTTCAACTAGCTTAGAATTGCCAGCTTCTTATCATAGACCTATATCTAATCCTGGAAATGACAAACCCAATTTCTGCTTCAATTTCTATTTCAACTATGACCCTAAGCTTAGGGGATGCATTGGAGGGTACTGTTGGTGGGAGTGGGGGAAGAAAACTGATTTTATTCACAAAAATCCCAGGGCATTACTTTGGACAAGTTGTTTAATCTTGCTGAACTATTGTTTCCTCCTTGGTAAAATGGGGATATCGGTGCCTTTACCATGGGCTTGTTGTTAGAATCAAAACGACATGAAGAAAATGAAGCTCGTGTCAGTTGATCTGTTACCACATCATGTAAAACCAGTTAGGGAGATTGTATTCAAAGATGGAGGGTATGTTCAGAAAATGTGTCCTCAATGTATAAACCATATGGAATGTGCAAAATTCACATTGACAGATCCAAGGAATTGACTTTGAAGATACAGTTTTCTTTCAAAGTAGCTAAAACAGGTACACTGAGAGGCATATGTATATAATAAATTAGCAGCCTAATCACCTGTTTCCTTCTGTCTACTCTGCTTAAACATATATATTTAAAGAAGTAAAACAGGTGACAGAAGGAAACAGGTGATTTCAAATAGGAGCCCACATTGCAAATCTCAGGGACAGATGTTCTATTTCTGAGGTTCTATTTCTGGGACACATATTCGCTTTAAAAAAACCTACGGTGAAACTTTCAAACATACACTAAAGAAGAATATAATGAAACACCATATATACATAATCCAAATTCAACAATGATAAAGATAAAAATTGTGCCATATTTGCTTCATCTTTCCTCTTCTGTAGTTTTTTGTAAAGCCCAAATCTCATTTTTTTTTACACTTAAATATTTAGAATACATCTCTAAAAACAGGGCCATATTCTTGTTTAACCATGATGCCCTTATCACATTTAACAAAACATAATCAACAAAAATTTTTTGTGTAATTATTGCCTAGTCAGGATCCAGATTTACCTGATTTTGTCAACTGTGAGCTTTTATGATTGATTATTCCAATTAGGGGAAAAATAACCCACATATCATTTGGTTGTTATGGTTTAAATTTCCTCCCATCACCTCTTTTGTTTCATGCTGTTGTCTTATTGAAGAACCAGATTTATTTTCCTGGATATTGTCCCATAACTTGGATTTGTCTGTTTCTTTGGAGTGTCATTTAATTTGTTCCTTTAGCCCCATATTTCCTAGAAATTGAAAGTTAGCTCTAATAAGGTTCAGATTCAACTATGTTTGGCAAGAATATTTCACAGGTGGTTCTGTGTACTTCATGTTATATCATATCAGGAAGCACACCATGTTTGAATGTCCCATAGCAGCATTTTGTGCAGATACCATGCTTATTCAACTAGTCCTCTATCGGTAGATGTTTATGGGTTTTTTCCAATTGTTTATCACAAATAATGCCACAATGAATAGCCTTGTGCATAAGATGTATTTTGCTCACAGTGCATCTTTTATACGATTTCTGAGGAAAGAGATTGTTACTTCTTTGATGCTCATTTATATTTTTTTTCCATGGCTGCTTAGAAGTTTTTTCTATTTTTGTTTCAGCAATTTTACCATGATATGCCTTGATGTGTTTAATTTGCTTGTGTTCATACTGCTCGGGGATAGAAATGCTTCTTGAATTTGTGATTTGATGGCATTTGTTGGTTTGGAAAATTGTCCATATCACATATTCAAGTATTACTATGCTCATTCTATCCTATCTGGATCTCTAATTACCTTTATGTTTGACCTCACTGTATCCCCTATATCTCTTATGCTCTTTTTTTTGCGTTTTCATTCATCGATTTCTCTGTGCTTCATTCAGGATACTTACATCTGACCCACATTCTAGTTCATTAAATCTCTATTCAACCATGTCTAATATACTTTTAAATCCACCCACTGTGTTTTTAATTTGTTATTGCATTTTTTTAGTTTAAAAATTTCCAATGAATATTTTTTAATAATCTCTGGTTTGCTGTCCCAATTCTTAATTTTTCTCTCATTTCCTTGAATAGATTAAGGATAGTTGTTTTAAAATGATGCTCAATAACTCTAAAATTTGGAGTTCCTGATGTGTTTCTGCTACTTATTATCCTGGATTTTATTTACAATATCTTTTCTCTGTGTGATTTGTTATTTGATAGAGTGCTATTCATTTTCCATGGAAAAATAGAGACATATTTTGAGATTCTGGGTGACAACATTGTATTAGTCCATTTTCACACTGCTATGAAGATACTACCTGAGACTGGGCAATTTATAAACAATAGAGGTTTAATTGACTCATAATTCCACATGTCTGGGGAGGCCTCAGGAAACTTACAATCTTGGCAGGAGGGGAAGTGGAAGCAGGCGTCTCCTTCACACGGCTGTGGGGGAAGAGAGAGCGAGCGAGAGCGAGAGAGAGTGAGCGAGCATGCGAGTGAGCGTGCAAGCAAAGGAAGAACTGCCAAACACTTAAAGCCACCAGCTCTCATGAGAACTGACTCAATGTCACAAGAACAGCATGGCGGAAACTGTCCCTGTGATCCAGTCACCTCCCACCAAGTCCCTCCTTTGACACGTGAGGATTACAATTTGAGATGAGATTTGGGTGGGAATACAGAGCCAAACCATATCAACCATCTTTCTCTATGTGGGATGTACATTTCCTTTGGTCAGGTAACTAGGGGTAGGTGTAAACTTGGATCACCTTAATATAACCTCAGGGCTCTGAGATGATTCAAAACCAGGTTTCAGTCACAACAGAGATTTATGTTTTTTTCTTACTCTGAGGTAAAGCCCTTCTGGTCTAAACCTAAATCCTGAAGAGTTTACCAGAATCCTTTCTACCTGGTGGACTGGGACTCCAAATTTACCACATGCCCCCTTGGGCCATTGTAAGTACTACTATGTTTTTCAGTCTCTCAGCTACTTCCCATGGAACTGACAGCACCCTCAATTGTAGGGCTTCCTTCTCCACATTTCCTTCTCTTCCCTAACCTTGCTACTGTCATTTTTGTCTGCTTTGCTATTCTCACTGTGCCAAAAATTTAAAAACATTTTCTCCATATATTTCAGTTGTTCTTGGTGGCAGGATTGGTCTAGCCTGCCATTAAGGAAAGCAGATGTGCTCTGACTTTTAAAAAAGAAAATACTCTAATTTGTGAAATTCTAACTGTAGTTTTGATATTCATTTCTTAAAGTTTTGATTTTTTATATCTGCCATCCCTACAGTGAAATTGCCCACTTCTCAAAGAAGTCTCCTGGAAGACTTTCTCATCAGTTCTAAGTGGCTGTGTGAGTTAAAAGCATTGCTGTTTCGCTGAGGAGAAGTTGGTTGGAAGTCCTTTGTAGGTCTGTATTTGAAGACACATTTTAAGAATCTAGTGCCAAGCTACACACGTAAAATTTTTCTACCACTGTAAATGAAGCGTCTCATAATTAACTTATTGAAATTTTCTTCTATTTTAAATAAACGCAGATGAACCTGTCACTGTGACATACTTGATTAGTAGCTTTGTGAAGCTTTAAAAATTCTCATACATACCAAAGTTCCTCCAAAGAACATACCCATTACATTACCTGTACATCTGTGAATGGAACCATGCCCTACCTTACTTTATTAGGTATTCTGTAATTGCGGAGGTAGCCAATTTTTCTACTTCTGTGTTATGTCTAAGCTAATTATTGTTTTTATGCTTGAGAAATATTGTCTGGGGCCATGCATTCATTCAACACAAGAGAATGAAATTGCTCAAGGCAAAGAGTAGAGAAATGCTAAGCCCATCAGACTGTATCCTGGCAAGGCTGTGGCTGGAGTTGGCTTCCAAGGTTGGATTGTTAACCTAAGCATTCCCACTGTCTCCCTTCTGTGCTCTGCATTCTTGATCTCTCTCTTTCTTTTAACGTCCATTAATGTCTAGTGAAGATTTTATGTCTTAGAATAAGAATGGCATAAACTCCCAACTCTACTTCCAGCCAATTGAAGATGGCATTGACTGAATCAATTGTGAAGACTATGATGCCCCAAAGAGCAGAGCATGATATCTCATCAATGGTTCATCTGCTTATACAGAGCTCTGTTGATATGCACCCTGTTTCCCTTTGAACAGAGGAAAAAAGACTTGGAGAAAGTAGGCAGGCTGGGAGAAAAGGCATCAGTGGGGCAATCTGCTCACCCTCTTACCATTTTGTGTGTAATAGGGTACCTGGAGAAGCAGCTTTTTGCCAATAGCCCATCCAAGAGATCTGACCTCGGGGCAAGAAGACTCCAAGAGCCAAAAGCTGATGATTGCGCTCTAGTGGTATTAAGAGGGAATTAGGAGGTTTGGAAGAGGTTATGTTGAAATCAACTCTTCCACTTCTCTCTATATAGCAGGGAGGTCAGCTGAAGGGACTCTTCTTCCATATATATGCCTTCTCCAGTCATGCCATTGGGTTGCCTGCCACCTAGAGGACATCAATGGCCAGTGCAGGAGAGAAAAGATTCCTTTCTCACTTATCACTAGATTCATGGCAAGAGAAACAAGATAAAAGCATAAAAAATTCATTTCATATAAATTTTATGTGACATGGAAGCCTTCAGAATTGAAGACCCCCCAAAACAAGGAAGCCTATGTATTTGTGATAGTCATCCAGAAGTATGATTGGAAAACAGAAGATTATGACTTAATGATAATAAACTGGGAAGAACTTAGTAATGCATGATTTCTTTTTCAGACGCTTTTTGGCATTTCTGTATATTAATTCATTTCCTCCAGGTATAGGGAAGATCACTCTGGAATGGGAGTTTTATGATATACTTTAGAGGAAGGTCAGATAATTATTTTATGGTCTAGAACAGGGGAGAACAGCAGGAAAAAGTCAGCAAGACCTTCCTGTTTCTGCTGTTTTCTCAAATATCAAGGTGCCAAATTGTAAGGTAGTGTGTCCTAAACCCTATCACCAGTCAGTGTGAACATAGAGGACAATATCAGTATCTTGTGAAATAATGAACACATGCTCTTTTTTTCCTCATCTTTAAAATTTTGTATGAGACCAGAAAGGAGCCAAGTAAGGATGTTTTTTTAAAAGTCTTTGCTCGTGCTAATGAGCGGCTAGGGTTGAGAACTTCCAAAATTCTATAAAAAGGGGTAAAAGAAGTATTCCAGAAGCAGACTAAAATCTTTCCTGTACTTCAAGGTAGAGGTGAACAGGGAGAAATAAAGAACCATGCCATGTCCCTTCACCAAATCAGGTCCCTCAAACCACAGGTCTGGCCAAGTCAGGGAATGTTTTAATCAGTCATATTTTAAATTGAACCTAAAATAACTTGGAAGTCAATGTTTTCCGCACAAGGTATTATTGGGAGATCTACCACCAAGTCAGGAAGAGGGATTCGACACAGTACTAGTGGGGACACTGATTAGAGAAAAACGTAATAGCTTTATGTTTGAATACCTCTGAGAGCAAACCAGATATGGTAACCTAACCTCTAGCACAGAGGAAAATTCCATAATGAAATGCTGACAAATTTTAATAGCTCAACTTGGGGAGCTTTATATGTTGTTTCCTCTGGAGTACCTTTCTCTCATCCCTGAAATATAAACTAATGAGTAACAGGAAAAAAAAATTCAGGGACCTTCATACATTTTGCTTTGGGCATAATCTCTATAATGGGATTTAGTAAGATCTAATGATGTCAGATACCTTCTAAGAATGGGGTTCATTAACTTTGCTGGAAGCCTTCCTTCATTTCCCAATGCCTCCTTTTACATTTGTAAAATAATTTGTACATCATCTGCCTTCCCTGTTCCACTACCATTTTTCTTTGGTTTTTGCATTCAGGTGAGGTACTTACAGTTCACAAATGTCTTTCTCAAGACAGGATAAGAACAAAACATTAGCTCCCAGAGATTCCTTTATCAGCAGAAAACTTGGCACCCTTTGTCTAAAGAAAGCCTATCTTCTAGATGAGAGATATGTAATTATTCTTGCTCTAAATCCTTCACTCTTCTAAGATTACTTCTTAAACCTCAACTGTCTCAGCATGGTTATGCATATTCACAATGGACTTTATAACCACTTGGGAATTTAAATTTCCTTTGCTAAGCCTCAATTTTTGTAAGCAGATCCTCAGCTTTTACATCATTGCCAGGTTCTGTCTAAGGGTAATACTTCATTTTAATAAATTTTAATTGCTACATTAATCCAGTTCATTATCCATGTGAATTGCCATTTACTGCTCTTTTAAAAATCTTTCCATCGGACTTTGTGTACACAGCCTGTACACAAAGGCAGCTGCTGAATTTGTTCAGATTATTACCATTTGGGATGTGCCATCCACCTTTTGTTCCCAAATTAATTAGGGAAGATGAAACTGCTACTTCACAATTGACAGAACTGGCGTCTATGCAGGAGATGCCTTTACAGAAAGTAGATCATTTACTCCCAGAATCGCCAATCTAACGCAACGTCCTGTGTTTTCCAGGTCTGGTAGCGATCAATTATTCAAAGCCAATTGTTTATAGGGGATTATAGATCAACTCTTGATGATATTGCTCACACTATAAATTCTCTTTCTCCTCTGTATAGTAACTTTACAGACACTGGAGATGGGGAATGTCAGGCAATTCTACCTGATTTGAAACATCCAAACTAAAAGCAGCTACACATCTGCCTACTGAAGGGGATGGCAAATTTGTCCACTGAAAGTCATTAAGGACAACCAGATCTCTGAATGGGATTGTAAATTGCATTTTGGACAGCAATCCTTATGAGAATGAGAATATTCTGTTTAATGAAATTGATTAAAAATAAAGGTATCCAGAAATAAAATAATGGAGAATAATAAAAGCTCCAGAGTAACAATTTTTTTCTTGAGTCATGTTTAAGGGATAGCCTTAATCAGAAACAATCAGAATCAGTGTTCAGAGAGCATTTTTCTCTTTAAAGACCAATAACCTCCTTAACCATCACAGTACTCTATTATCACTCAGGGTTTTAATAAGATGTCAGAGGATTCTAACCATGGTTCCTTAAGTTACTATGGCTAGCTCTTAAAATGTGTATGAAAATGTCATTTTATTGGCTCATAGCTTAGTTATAGAGATGAAATGCTAATCTCCTTTTCTCTTTCCTTCTCCTATTAAAAAAAAAATCAGATCCAACCATGGGGGCTTGATGGATTATAATAGAAGGAGGACTGTAAGCCTGTGGAGGACAAGAAACAATACAAAAAGCAGGATAAGGCTATTGAAAAGAAAACAACTATTTTCCCATTTTTATTACATTGACTGTATCCTTCTAAAATCGAAAGCTTTCTTGATGGAGAAGCACTAATACATGATGATTCTAAAACTTTCACCCAGCCCCTGAGGAGGCAGCCTAAAGCTCAGCTGGTAATGTATGATCCTCTTTCATTTTTTCTTTACATTTTTTATCACGATTGACTTTCTTTCTCCTTTTCTCTTTCTGGTTGTAATATATTGTGCAATATCATCACCTAGCAATAAAGAACACCAAAGAAATCTAAGTGTTATGTAACTGGCTGGTTGGTTGGCATTATGTTGCCAGAGCTCAGCTCATTGTTACATATGGTAGAAGTTACATACATTTTATCTGCAAAAGACATGAAAGGGGGACACTCAGTTTTTAATAAGTGCCGGGAACCCTGGGAAATGCATCAGCACTTGAAAACTGGGTAATAGCAAGAAAAGGCTTTGGACCAAAAAAGCAAAAACTCTTCACGGTGGTCTCATTCCAGGAGAAATGACTAATAGCTTGTTATTTACTATCTATTTGGAATGACAAAAAGTTTTTCCCTCTTTTCTCTGTCCAGGCAGTTGGTCATGGCTGTCTGAGTGCTGCTTTAAGAAAGGTGTTTGGGGAGGCCAGGGCTTAGCAAGGAATACTATCATAATTGGTTAGTGATGTTTGTGATTGGCATCTGAAGAGAAGGAAGAAGTGTGTGTCAAGTGACTGCTACTAATAGATATCATGGCCTTAGCTTTCTTTCGTTTACCCATTCATCAACTTTATAATTCTTAGTCCTAGCCCCTCCTGAGAGCAAAATGAATCCCTTATGTGTCTTAAGTCTCCCTGAAGCTCTACAAAGCATAAACATCCCAGATACTGCAAAGGGAATATTCTAGAACATTGATAAGACTTGGAAGGCAGACCTAGGTTGAAAATCTTTTGGACATATGTAAACAGCTCATGGGAACAGTACAACTGTAAAACTTGGGAGATGCACTAAAATGTAAAGAACAGAACCAAAAAGGATAGGGTATAGAAAAATGAGTATAGATGTTGGAAAGAAGTGAAGAATTTTGCTTAGGGTTGATGCTAATAAACATGGAAAGGAGGAGAAAAAAAATAAGGAAAAAATTCCATGTTAAGTCTATTCTTTTTATGAGAACAAGAATAACAAATGTCCAGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCATGAGGTCAGGAGATTGAGACTATCCTGGCTAACACGGTGAAATGCCATCTCTACTAAAAATACAAAAAAAAAAATTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCAGAGGCAGGAGAATGGAGTGAATCTGGGAGGCGGAGCTTGCAGTGAGTGGAGATGGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGATTAACAAATAAGTGGACATATGTGAAAAAGGGTTGGTTTATTAAAAATTCACAGTGCAGTGTCAGAAAATGAAATTACATTAGGTTAGAGGCAAAGCACATTTCTAATTGGATTCTGTCCACATCAAATGTCATCTAAACCTTAAGGGTTATTTATTAAATTCCTGACAGCTTGCATGTATCACATTGTTCTATTATTACTCTAGAAGATGATAAAACTCTGGAAGTTTCTAATATTAAAACAAATCAATTTTCATAGTTTTTAAATCCTAGAAATCTCAGAATTTGTTTTCCTCTCATATAGTATTAGTTTATACTTTTTATATCTATATCTATTTGATTATCTATACGAAGAGTAAGACCACTGTAGAAGAAAATAATGTGTTTAATAACAACCATTATTTGTCCAAACTGTACTCAATTGGTTTTGAATAAAAAATAAGCTCTAATGCCTTAAGGTGACCATTATATGTAGTACAATGCACCTTGAATGACACTCTTTCTGCTTATCTTTGCTAACAACAAACCACTTGAAAACTTAGTAGCTTAAGACAGGAACATGTATTTCATCCATGAGTTTGCATTTGGCTAGTGCTCAGTAGAAACAACTTGTTCCTGCTCTACTCAGTCAGCTAGGGTGGCTCCAAGGGTGGAGGATAGAATAATCTTAAAGCCTCACTAGCTACTGGCGCTATGGCCAGATACATACACATGATTTTTTCATGGCTCCCTCACAGCATGGTGATTGAGTTCTAAGGGCAAACTTCCATGAGGCCCAGGAAGTGAACTGGAGAATGTTGAAGAATTTTTTAACGACTTAGCCTTGGGAGATCACATAGCATCACTTCTGCTGTAGACACAGAGCCGCCCAGATTCAAATGGAGGGAATGTAATCCCCATCTCTCAGTGGAGGAATGACAATGTCACATTGAAAGAAAAGCTAGTTGTGTGGGATATATAGGTACCTCTATCTTTAGAAAATAAAATATGCTATAGTACTAATTATGTACCACCTTTGGGAAGATGGATAAAATAATCACTCAATTTTTTATTTTATTTTATTTTATGGCTCATACGAGGAATCCAAACTGAGAAAGGCTAAACCAAGTGATTTGGATATTGGCTAAAAGTGATAACACAATGCCTAACACTTAGCAGGGACTCAATAAATTCTTCTCCTCCCAGTTAATAAAGTCCTATCATTTCTATGGTCTTACCAAGGATTTTGTGAAACCAAAGAACTGAAATTAAATTTTAGTTATGTTTTAGACCTACATTAATTTCCTCAAAAATCTTTTTTAATGTGCTAACGTTATTATGTCTGGGAAATAGTTCATTTATCATAGAATCTGACCTTATGGAATATGAAGTAGCATGGAGACATTGGCTTGTGTTTTACAACTGAAAAATCGAATTGTCTCTTGGTGGATTAAGGCATAAGGCATTAGTTGGGAGATAATAGGGGAGAAACAGCTGCATAGTAATTTTAAAAAACCTAACATTTCCAAGTTCTCATAGTTTATCAAGATGATATAACTGAATCTATATGGTGTTTATAGTCAAAATTGCCTGGATTCAAAACTTGACTGGCATTTTGTAGTTATGACATTAAAAATAATCACAATAATAGTAATAATAGTTAACATTTATAGAGTGTTCATTCCTAGCTAGATATTTTGCTAAGAACCTTGCATGTAAAATCTAATTTATTTCTTTTAGTAATTCTAAGGTAGAAACTATGGTTATTCTCACTTATAGATGTTACATAGTAATGGAATTGGTATTTGAACCTATTCTGTTTCATACAAACTTACCTGCCATGCAAGTTCCTCAAATTTCTTGAGTGTCCTTATCTATACAATAAGGATATCATTATTAAAGAAATATAAATGAGATCATGTATATGAAAATTATAGTACATAGTAAACACTTTATTGTTAATTTTATTTTCTCTTTAGGGACAAAGGAGTCAGTCATAGCCTGGGTGGCCTAGGTACTAACTCTAGCTACTTAATTTATGTTTGTGTCTTTTATAGTTATAGATAGCCAGGGTTGAGAGAGGACTTAGATATCACTTTTTACCACCTGTTTTGAAGCTGAAGAAACCTGAGGTTTGGATGGTCAAATGAATTAACCAGAGTCATAGAGCTAGCACATGGCAGAGCTGAGATCTAACTCTAACACTAGTGCTCTGGTAGTATATAATGCTGCCCTCTCATTTCTTTGACAAGTAATTATATTGTAAGAACACAAAAAAAAGCTAATAAAACATGAAACTTGCCAATACTTTGTTTTATATTGATGTTTTTATAATTAAATTTAGTGTTTTATTAAATGCTTATTAGTAATGCATATTTATAAATATTTCCAAATGCCTAAAACTGAAATTTCATGCCATCCTCAATGATTGTCAAGTTACTAGGCAGTAACTCACCCCGCTAGGGTTAATTATTACACCTAGTAACATTCATGCTGAAAACTCCTGCTTAGACTAATTACTCTCATAAATCTCTTTAGAGAAGTGTAAAATTCTCATTACTTAAATGATAAAACAACTAATCTACTAATCTTTGCTCCTTGTCCCTTCGAGATAATAAGATTGCCAAGACTGCTAGAGTTGAAGGATGTTTTAAGGTAATTAAAAATGTTGAAAGAACCGAGGGCCTAAAGAGCTCACAATGATGTCTGGAAACTGAGGGAGAGCAGAAATTGTAGAATAAAAAGGAATGTGGAAAGTTCACCCTTAAATTTATAAAGGGATTCTTTTCCATTTTAACCTGATTTTTAAACTTTTATTGCGGAAGGAGGTCCTTGAATATGTGGTTAAATTTGCTATCATCTAAAACTACATTAAATGCTTAAATTTTTCATTCATTTATTTACTTATTCAACAAGTACACATTGAAACTGAAGATAAAACTATCAACAGGACATCATCATTCACCTCATAGAGCTTGCAGTCCAGTAGTTACGGGTAAGTAAACAATTCAAATATTGTATGACTTGAAAGGCTTTTTTAAGGTGGTGTGACTCCATTTCACTGTAGCATTTTTTAGCCACTGCCACTGCTGGTGACTCACAAGTACCACATGGCTTAGCAGAATCACCCAGCTCCAAAAAATCAGTTATTAACGTTTGGTACATCCCAAGTATCTATTTGTTCATTGAAACGACCATTTCAGAGGTACATCAGTCTGGGTCCAAGCAGGAGAGAGAAACCACACTTGTTATTAGAACAAAGAATGGATCTGGGCAACATAGTAAGACCCCGTCTCTACAAAAAGTTAAAAAAAATTTAGCTGCACATGGTGGCATGCACTTGTAGTGCTAGCTACTCCAGAGGCTGAGATGGGAGGATCTCTTGAGCTCAGGAGTTCCATGTGGCAGTGAACTATGATTGTACCACTGTACTCTCTCAGCCTGGTTTGGCAGAGAGAGAGAGAGAGAGAGAGACCCTGTCTCAAAGAAAAAAAAAGAAAAAGAAAAAGAAAAAAAGAAAAGGAATGCCCTAAGTAGGTTGTAAGTAAGTTGTCAATACGTAACTAAAGTGGTGAAAAGTTAGGTGCTATAGAGTTGGCTACTGCAGGAAGCAGCTATGCTACCACCCCTGGGGCTGAAAGAACACAGGTAACAGGTTAGAACTATGAACACTTTCAAACTTGAAGGAGGGACCCTGTGGGGTCCCAGATCTCCAAAGAGAGGGTATGGCTTTGTTGGTACTGGAGGTTTTGTGGGGAGGCATGATGAAGCTGGTTCTGTAAGTGTTGGAAAAAGGAAACACCAATTCAGTTATTACTAGGAACTGTTGCTGCTGAGATGAAGAACATTCCTGAGGTGTTACTCACAGTAATGGGAAGACCACAGGAAACCAGGAGCACACAGAAAAGAACATGTTCTCTTTCCTTCTCCAGCCTTGCAGTCCTCCCCAGTCCCCCTACTGGCAGAGTCTAACAGGACTAGCTGGCAAAACAGAAATGTGGTTTTCTGAGTCCCAGCCCTCATTGTGAAGCAAAGTAGTAGTCTTGAATGAGTTTGGAACCAAAAGGTGATGATTTAATAACTAAGGCAAATGGGAAGCCAACAGAGTGGGCCCTGGACTCTGCTATCCTCAAAACCTCTTATCCAATGCCTGAGAAATACACCTTAAACTCCCTTCTGTGTAGTTCTGTGAGGATGAGTTCCCCTCCTACGTGGGGAAAAAGGCCACTAACAGGGAATCTATGTGAACATGTTTATCCTCTAGCCTTCATTATTCCCTCTCTGTTATGCAATAATACACACAATTATCTTAATATCTACAGATGCATTTAAGATATCCTTCCTTTCTGGCCTCTTGGCCAATATCTCTTCATGGAAAAATTGTATAATATTTGGAGATGTTTCCAGACTCTACTGACTCCTTTGGTTTTGCCAACAGCATGGTAAGAGTTATTGTAGGTGATATGGTTTGAATCTGTGTCCCTGCCCAAATCTAAAGTTTAACTGTCATCCCCAATGTTGGAGGTGGAGCCTGATGGGAAGTGATTGGATCATGGGGGCAGAGTTCTCACGAATGGTGTAGCACTATCCCCTTGGTGCTGTTCTTATGATAGTGAGTGAGTTATCATAAGATCTCATTGTTTTAAAAGTGTGTAGCATCTCCCCTCGCCTTTCTCTTGCTCCAGCCATGTGAAGTGCTTGCTCCCTCTTCACCTTCTGCCATGATTGAAAGTTCCCTGAGGCCTCACCAGATGCTGATACTGCCAGGCTTCCTGTACAGCCTGTGGAACCATAATCCAATTAAACATCTTTACTTTATAAATTACCCAGTCTCAGGTATTTATTTATAGGAATGTGAGAATGGACTAATACAGTAGGGATACATAGTACCTTTCCTTTCTACTAAGGGAGCCTCCAAAATGACTTTTTGCACAGTATTGAGTAAGAAATTGGTCAGCTGCTGGCTGTTTTCTTTGGGAGAGATACAGTTCTGGGAATTAACTGGGATAGCTAAGAATGTAATTTTTAGAAGGAAGGATGAAAATAATGAATTAGGCTCAGAGAATGGCATAGAATGGTTCTTTAGGGGAAAATACAGACATTGTAGAGCAATGGTTTGCATTCATCTTTTTAAACTTTTATTTTTAATACTAAAATGTTGGTGGGTACACTCAAGAGATCAAAATATTAAAGTACTCCAATACCACACATCAATAATCACAACTCTACAACTTCATAGCAGTGTTTCAAAATGTTTACAAAAGCATTTATAGTAAACCCGCTAGTTATGAATTGGCCCTTCAGCATCATGTAACTATTTAGGTAAAATTATTTACTGCCTTGAGCACACTCTATTATATTTTCCTGTATACTTCAGATAACTCGCCGCCTTCCCTTGGTGCCAGCTGGCTGCTATGCCACACTTCTAATCTAGTCATGTTAGGTTGTACCTTGCTTTACCTGCATTGCAGGTGGCATTCAGGCTAATGCTCCAGCTCACAGGCATCACCATTAGAGTTGTTTCCAAACATAAGACAGAGTCCAAGATGGCCGAATGGGAACAGCTCTGGTCCGCAGCTCCTAGCGAGATTGACACAGAAGACGGGTGATTTCTGCATTTCCAACTGAGGTACCTGGTTTATCTCATTGGGACTGGTTGGACAGTGGGTGAAACTCACAGAGGCCAAGCCAAAGCAGGGCAGGGTGTAGTCTCACCCAGGAAGTGCAAGGGGTCAGGGTATTTCCTGTTCCTAGACAAGGGAAGCCATGACAAAATATACGTGGAGGAATGGTACACCTCTGCCCAAATACTGCCAAATACTGCACTTTTCCCACAGTCTTAGCAACTGGCTAAGTGCTGTGGTTTTCAGCTCCATCAGTTCATTTAACAACCTCTCTACACTGTTTATTCTAGTTAGCCATTCGTCTAACCTTTTTTCAAGGTTTTCAAGGTTTTCAAGGTTTTTTGCCACGTGCCTGGCTCAGTGAGTCCCATGCCCACAGAGCCTTGCTCACTGCTAGCGCAGCAGTCTGAGACTGACCTGTGAGGCTGCAGCCTGGTGCAGGGAGGGGTATCCTCCACTGCTGAGGCTTGAGTAGGTAAACAAAGTGGCCAGGAAGCTCGAACTGGGTGGAGCCCACTACAGCTCAGCAAGGCCTACTGCCTGTATAGACTCCACCTCTGAGGGCAGGGCATCACTGAACAAAAGCAGCAGACAACTTCTGCAGACTTAAATGTTGCTGTCTGACAGCTCTGAAGAGAACAGTGGTTCTCCCAGCATGGTGTTCAAGCTCTGAGAATGGACAGACTGCCTCCTCAAGTAGGTCCCTGACCCCTGTGTGGCCTGACTGGGAGACACCTCCCAGTAGGGGGCGATAGACACCTCATACAGTCGGGTGCCCCTCTGGGATGAAGCTTCTAGAGGAAGGGTCAGGCAGCAATATTTGCTATTCTGTAATATTTGCTGTTCTGCAGCCTCCGCTGGTGATACCCAGGCAAACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAACAGAACTGCAGCTGAGGGGCCTGACTGTTAGAAGGAAAACTAACAAACAGAAAGGAATAGCATCAACAGCAACCAAAAAGGACATCCACACCAAACCCCCATCTGTAGGTCACCAAAATCAAAGACCAAAGGTAGATAAAACCACAAAGATGGGGAGAAACCAGAGCAGAAAAGCTGAAAATTCCAAAAAACCAGAATGCCTCTTCTCCTCCAAAAGATCGCAGTTCCTCGCTGGCAATGGAACAAAACTGGACAGAGAATGAGTTTGACGAGTTGACAAAAGTAGGCTTCAGAAGATCAGTAATAACAAACGTCTCCGAGCTAAAGGAGCATGTTCTAACCCATTGCAAGGAAGCAAAAAACCTTGAAAAAAGGTTAGACGAATGGCTAACTAGAATAAACAGTGTAGAGAGGTTGTTAAATGAACTGATGGAGCGGAAAACCATAGCACGAGAACTACATGATGCATGTACAAGCTTCAGTAGCCAATTCGATCAAGTGGAAGAAAGGATATCAGCAACTGAAGATCAAATTAATGAAATAAAGCAAGAAGACGAGATTAGAGAAAAAAAGGGTGAAAAGAAATGAACAAAGCCTCTAAAAAATATGGGACTATGAAAAGACCAAATCTACATTTGATTGGTGTACCTAAAAGTGGCAGGGAGAATGGAACCAAGTTAGAAAACACTATTCAGGATATTATCCAGGAGAACTTCCCCAACCTAACAAAGCAGGCCAACATTCAAATTCAGGAAATACATAGAACACCACAAAGATACTCCTCGAGAAGAGCAACCCCAAGACACATAATCATCAGATTCACCAAGGTTGAAATGAAGGAAAAAATGTTAAGGGTAGCCAGAGAGAAAGGTCTGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCTGATTTCTCAGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGTCAATATTCAACATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATTCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAGACAAGCAAATGCTGAGAGATTTTATCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACTAAACATGGAAAGGAACAACCAGTACTAGCCACTGTAAAAACATACCAAATTGTAAAGACCATTGATGCTATGAAGAAACTGCATCAACTAACTGGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACCTTAAATGTAAATGGTCTAAATGCCCCAATTAAAAGACAGACTGGCGAATTGGATAGAGTCACAACCCATCAGTTTGCTGTATTCAGGAGACCTATCTCATGTGCAGAGACACACACGGGCTCAAAATAAATGGATGGAGGAAGATCTATCAAGCAAATGGAAAGCAAAAAAAAGCAGGGGTTGCAATCCTAGACTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACCAAGAAGGGCATTACATAATGGTAAAGGGATCAACTCAACAAGAACAACTAACTATCCTAAATCCATATGCACCCAATACAGGAGCACCCAGATTTATAAAGCAAGTCCTTAGAGACCTATAAAGAGACTTAGACTCCCACACAATAATGGGAGACTTTAACACACCACTGTCAATATTAGACAGATCAATGAGACAGAAGGATAACAAGGATATCCAGGACTTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTCTCCACCCAAAATCAACAGAATACACATTCTTCTCAGAACCACATCATGCTTATTCTAAAATTGACCACGTAATTAAAAGTAAAACACTCCTCAACAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAATTTAGAACTCAAGATTAAGAAACTCACTCAAAACTGCTCAACTACATGAACACTGAACAACCTGCTTCTGAATGACTACTGGGTAAATAACAAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATAAGAACAAAGACACAACGTACCAGAATCTCTGGGACACATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAGAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAACAGAAGGCAAGAAATAACTAAGATCAGAGAATAACTGAAGGAGATAGAGACACAAAATACCCTTCAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAGAGATCAACAAAATAGATAAACCGCTGGCCAGACTAATAAAGAAGAAAAGAGAGAATAATCAAACAGACACAGTAAAAAATGATAAAGGGGATATCACCACCAATCCCACAGAAACACAGACTACCATCAGAGAATATTATAAATGCCTCTATGGAAATAAACTACAAAATCTAGAAGAAGTGGATAAATTCCTGGACACATATACCTTCCCAAGACTAAACCAGGAAGAAGTTGAATTGCTGAATAGACCAATAACAGGCTCTGAAATTGAGGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCAGATGGATTCACTGCCACATTCTACCAGAGGTACAAAGAGGAGCTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAATTCATTTTATGAGGTATCCTGATACCAAAGCGTGGCAGAGACACAACAAAAAAAGAGGATTTTAGACAATATCCGTGATGAACATTGATGCAAAATCCTCAATTAAATACTGGCAAACCAAATTCAGCAGCACATCAAAAAGCTTATCCACCACGATCAAATCGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCATCACATAAACAGAGCCAGTGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTGGTCAAAATTCAGCAGTGCTTCATGCTAAAAACTCTCAGTAAACTAGGTATTGATAGAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAGTATCATACTGAATGGGCAAAAACTGGAAGCACTCCCTTTGAAAACTGGCACAAGAAAAGGATGCCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGACGTTCTGGCCAGGGAAATCAGGCAAGAGAAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATTACTGTATATTTAGAAAACCCCATTGTCTCAGCCCAAAATCCCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAGAAATCAGAAGAATTCCTGTACACAAAAAACAGACAGAGAACCAAATCATGAGTGAACTCCCATTCACAATTGTTACAAAGAGAATAAAATACCTAGGAATCCAGCTTACAAGGGATGTGAAGGACCTCTTCAAGGGGAACTACAAACCACTGCTCAATGAAATAAAAGAGAACACAAACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTTAATGCCATCCCCATCAAGCTACCAATGCCTTTCTTCACAGAACTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAACGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATAAATGGTGTTGGGAAAACTGGCTAGTCATATGTAGAAAGCTGAAACTGGATCCTTTCTTTACACCTTATACAAAAATTAACTCAAGATGGATTAAAGACTTAAATTATAAGACCTAAAACCATAAAAACCCTGGCAATACCATTCAGGACATAGACATTGGCAAGGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAATAGGATCAATGAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCATAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCCATCTGACAAATGGCTAATATCCAGAATCCACAAAGAACTTCAATTTACGAGAAAAAAAAAACCCCATCAAAAAGTGGGCAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGTCAAAAGACACATGAAAAAATGGTCATCATCACTGGTGATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCATGCCAGTTAGAATGGCGATCATTAAAAAAGGAAACAACAGATGCTGGAGAGGATGTGGAGAAATAGGAATGCTTTTACAATGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCCAGAATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATACATCTAAAGGATAATAAATCATACTACTATAAAGACACATGCACACATATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTACATCAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCGTGGAATACTATGCCACCATAAAAAAGGATGAGTCCATGTCCTTTGCAGGGACATGGATGACGCTGGAAACCATCATTCTGAGCAAATTATCATAAGGACAGAAAACCAAACACCACATGTTCTCACTCATAGGTGGGAGTTGAACAATGAGAACACATGGACACAGGGTGGGGAACATCACACACTGGGGCCTATCAGGGGGTGGGGGGCTGGGGGAGGGATAGCATTAGGAGAAATATCTAATGTAAATGAGTTGATGGGTACAGCAAACCAACATGTCACATGTATACCTATGTAACAAACCTGCTTGTTGTGCACATGTACCCTATAACTTAAAGTGTGTGTGTGTGTATATATATATATATATATAGATATATAGATATATATGAGTTGTTTCCTCAGTCATAGCAAAAATACACTTTTACATATCAGTAAAAATTTCAGTGTATTCTTGTGTGCTCTCTCTTCCAACATGAATATGGGTAGACAAGGCATTTGTTTTAGAATAGTGTCTTATCTTATAAGTACTATATATGTGTTAGCTTAATAAAATATTGAGATAGTGAGTTATGGTTTAAGAAAAGACAATGGTAGTTGCAGTGTGTCAGGAAATGGAAGAAGAGTAAGAATATATAACCCTCTTTCCAATTCAGTTCCTTAGGCTCAGTGGTCTAAATATTAGTTGCTCCTATCAGCTAACATTTCCATTTGGAAGTGACTATACTGAAATGATTCTAATAAGTTTGGCTTTGAAATATTCATGACAAATATAACAAAAATGGCACAATGATATGATCCTATTGGGATATCGATTATTAGAAATATGGCAATTGTACTAAATAACTATATTTTATAAACCCTTGAGGGCCAGCTACTTGGGAGACCATTTAATAAGTAAAAGTAGAAGCAATATATGGATTCTCTCTCAGTGTCATCTGTATTTCCTTCAGGTTTTCAATCATATATATGAAAATAAACCCAATCTACAGCCCTAACCTAAACTGTCCAACACAGTAGACGTCAGCCACACATGGCTATGTAAATTAAAAAAAAATTTAGTTCTTAATTGCACTTGCCACATTTCACATGTCAACAGTCACATGTGGTGGCTACCATATTGGGCAGCACAGGTATTAGAACATTCCAACATTGCAGAAAAATCTATTGGATAGTGAGACTGTACCTACAGTTAGGAACTCTATTAGGGCTCAGTTTGGGATTAATTATATCTAAACTTCTTCTAACAAGGGCGCATAAATGCTAAACCAAAGAAGATAGGAAACAGAGGCAGTAATTATTTTCTCTATTGCCACATTTAAAAGAGATAAATTCTGCCATGAGGTGTTATTGTTCTCCATTATCATTAGTTTGGTGGGGTGAGATGAGAAGCTCATCCCAAATGCCTTTTGAATATGTAAGACCCTTAGAGTAGGACGGATTCCAAGAGATCCACCCAGAGTCATCTTATCTGAAGTTTATATAACTTTAAAAAGGGGTATTGAGAGTGAGTTACAAAGATTTTGCAGGATTCATGACTCATTTATGTGTAGCATCTACTTGGGTAACCTTCATTTTGCAGGAGTTAAACACTCAGCAGGAATGTGCTTGTTAGAGACAATAACCACTGCTGCATCTTCAGGCAATGTGGAAACAGTTAACCTTATCTGCGGATAACAGAACTGGCAGTCGCTTCTTTTGCCATGTCCACCACAGATGGTTCTCAGGAGCTGGTTATTTGGTACTGATGATGCAGTTTGTGAGAGGAAGGCAACAGTTATCTAATGAACACCTCAAATGTCACAACAACATTTAAGACACAATAAGAAAAGTAAGTAATCTTTTTCCTATTTTACAGGTGGGAAACTGAGGCTCACAGATTTTCAGTAACACGGCCAGGCTCTCATAAGTAGAAAGTGATTGCAAAATTTGGGAAAAAAAAAAAAGAGGCAGGGGTATGTTGCAGTGCCTCATGCCTGTAATCCCAGTGCTTTGAGAGGCTGAGGCAGGAGGATTCTTTGAGGCCAAGGGTTTAAGACTAGCCCGGGCAACATAGTGAGACCCCCCTGTCTACAAAAAATTTAAAAACTAGCCAGGCATAATGATGCATGCCTGTATTCCCAGACACAAACTGAGGCAGGAGGATTGCTTGAACCCAGGAGGTCAAGGCTGCAGTGAGCTATAATTGCACCACTGCACTCCAGCCTGGATGACAGAGCTAGATTCAGACACACACACACACACACACACACACACACACACACACACACACACACACACACACACCAAAAAAAAAAAGGAAAAAAGGGAGGAGTAGGGGAGGCTTTTTTTTTCCCTCCATATCACACTATCTCCCAGAGGGAGAGAAGGGGCAGATCCTGATCCTGGGGAATTTTTCCTTAAGGATTCAGACCTCCTCGTTCTGCCATCAGTTACGCTATTTTGGAGCATCCTGTGTCAATAGAGTGAGGATAAGCACCTTTCGAAAGCTGAAGAGATAATACACATAAAAATGTTTTTCTGCACCATCCTATCCCCTGTCAACACTTGGCTCTAAACGGCAGAGGGTGCCAAACTGAAGCAGCTGTGTCAGTGTTGTTTGGCTTGTTCACAGACACCTGTGTAAAAAAAAACCAACTTGGAGAAACATTACTTCTCATTCCATCTGCCTTTCCTAACCTACCTTTGTTGTATTCATTATTTTATGATTTTTTAAATGTTTAATTGACAAAGAATAATTGTATATGTTTATGGGGTGCAACGTGATGTTTCAATACACGAAAAGATAAAATCAGGCTAATTAGCATATTCATCACCTTTTCTTCTCTAAATTACAAATGAGTGTCCAAGGTCAATGCTCAGAGGCTTTCTGCTCTTCCTCGGAGGGCAAGCATCACATCTGTGGCTGAGTTAGAGAAACGGCTAACTAGGGTGGCACAAAATCACAGAGATACAAGAAACAGAGGTGAACACAGTGACCTCATTTATGATGCTCACAAGCTTCACAAATGCTCACATAGAGCAACCACTATAGACATCACAGGAACAGAGGCTGCCAACTCTTTGAAGCTTATTTTTTGAATCTCCTGTGGCAAGGATAATTTGGCAAGCCTAACAGCAAGCACCAGCTCCTTTGTGTACTGTTCTATGCCTTTGTAACACACATTCTACCTCCAGATACTGAAGTCATTTTTATTTGAACCAGAATAAGACACCAAACAGTTAGGCACAAGGCTGTCATAAATGTCAAAATTCGATAAAGATTCTTAGAAATTTTTTTATAAGCTTAATTTTTGTCTCCTAGAGTCTGAGCCCAGAACTCTAGATATATATTTCATAAAACATGATTTTCCTTTCTGATTTGCTTTTGAAAGTTTGCTTTTAATGAACTCCTGTACAATTGCACGGTTCAGTATTACCCATGCGGCATGTGTTTGAAAAATTTCTGCTGAGCTGTAGCATGAGAAGATGTTGTATTATTCAGCAGCCAGTTGTTGTAACTCAGGCAGCTTTGTATAGTGAAAAATAGGAAGAGAAGTAATGAAATGCATAAGTAAAACAATAAATTATAATCTGTGCAAAAGCTAATTTGCTAATTTGCTATACAGTAAACATAATATGTCTGGATCCTATTGAAGCATATTATGCAGTGTCTTGTGAAATCTTATTTGCAAAATTAATTTAAATGGTCTTGGAACAGAGATGAAGGACTGTAAACAAGGGTAGCAATAAATGGCAAAACTGTAAGAAGCAGCATTCAGCCAGTTGAGAGGGAAGACTCTCAGTCCTGGCAGAGTGGAGAAGGTAGTGGGTGGGGAAATAGGTGGGAAGGGAGGGTTTGAGAGTTAACTGGAGGTCACCAAGAAGCCAACAGTGAGGTAGATTCTCAGCATTTCATTCTTTCCTATTCCCAAACACAACTGCCATCACTTTTTTGTTTCTTTTTAGAACAGGGAGAATGAAAACCCTTTCTCTCTTTGCCTTTCTCAAGCATACTCTATATAGGCTTCCTCTGGCTGTCCTTCAGTCACTGGATCTCAGCCTTACCCAGAACCCAGTGTAGGGGTTTGGTACACAATTCCTTTGGTAATCACACAGCCCTGCTAAGGATTTTTTTTTTTTCTTAGGATTGGGATTGTGATGGTTGTGATGGTTAATACTGAGTATCAACTGGATTGGATTGAGGGATACAAAGTATTAATCCTGGGTGTGTCTCTGTGGGTGTTGCCAAAAGAGATTAACATTTGAGTCAGTGAGCTGGGGAAGGCAGATCCACGCTTAATCTGATGGGCACAATCCAATCAGCTTCCAGCTAATATGAAGCAGGCAGAAAAATGTGAAAAGGAGAGATGGGCCTAGCCTCCCAACCTGCATCTTTCTCCCATGCTGGATGCTTCCTGCCCTCGAACATTGGACTCCAAGTTCTTCAGTTTGGGGACACAGATTGGCTCTCCTTGCTGCTCAGCTTGCAGACAGCCTATTGTGGGACCTTGTGGTCGTGTAAGTTAATACTTAATAAACTCATATATATCTATCCTATTAGTTCTGTCCCTCTAAGAGAACCCTAATATAGGTGTTAACTGGGACACTGGTTTTGTGCTTTGGTTTGACAAATATTTATGAGTATTTATAAATTTATACAAAACTTTTATTAAAAAATGTATACAAAACTGTATATGTGTTAGGCACTGTCTAGAGTCTAGGTTTACAACTGTCAACACAACACTGTCCCTATTCCCCAGTGTAGGGGGAATACAGGTGTTTACAATATACTCTAGGTTCCCTAGCCAAAGACAATCACTCTGTCCAGTCAGTCATCTTGCAAATTCATGCTTTCAGAATGAAAGGTGAAACACAGAGTTTCAAGAGTCTTTTATTGTGTGTGTGATTATGCCTCTGAGGGCAACAGGTAACCCAAGGGTGATACCTGGGGCCACTGCCATCCCGAGTTAGGCAAACCCAACATCACAGAATTAAGTAGATAGAGTCTCTCTATTTGATAAGTGGAGACTTAGAAAACTGAGACATCTTCAAGCCATGAAAATTAATAAAAATATTTATTTTGTATCCCAAGAGGTCTAGACCCCAAATGTCCTCTATCTGTCCTGAAATGGTGGTCACACATGTGACCATCTTCCTCTACCGGATCTGCTAAAGGGTGGCTGTGGTGCATTCTAGAGCTCCAGGAAGGGGGACACACCAGAAATTCCAGACATCTAAGCAGCATGCAAATTGAGAGCACACTGGCATTAACAATTATCAAGCTTCATTACAGAACTCTTGTTTTAAGCTCACTCTACTCCAGTCATTTTGTAGCCAGAGCAGGGCCTCATGCCTTGTAAAAACATAACCCAAGAGACACAATCACCTCAGGCAATATTTTGAATTAAATTACTGGAGATCACACAGCTCTAATTTACCATAAACCATATGCCCTCTGTGCAGGAATTTTATGTGGTAAGGATTACGCCTATCATTTACAAAGACAGTTTATGGATTTTTTTAACCTAATTGACATATAGTTCAGCCACGCTGTAATCTACATTTTAAGTTTTTGTAGTCAAAGCTAGTGAACAGCTAAAATAGCCAAGGTCCATTCACGAGCAATTGTTAAATAAATAAATCCATCACTTTCTCAGCAAATGCTTAAATGAGCACAAGCTAAGTAGTGTATACACATGCTTTTAGCATCAGGTAGAGATCCCTTGAAAGATCTATCTAAGCAGTAGGACTGCATTTTCTTTTTTTCGTGGTGTCTTGGAAGGTAGAAGGCTTTCATTAAGGGTTCATGTAACAAGTTTATTCTCCAGTCTTCATCAGAGAACTTCTCAGCAGCTACTAATGCTTCAGCACTTATGACTAGGTTCTCCTGAATGGAGAAGGTTGAGGTGGGCACAGGCGGAAGCAGAATCTTCATCATTGTCCCCCTTACTTTGGTATCATCTCCTAAATAACCTTTACCTGGGATGACAGCCCCAGAGAAAGCCGCACAAGCTGGACAACAGGCCACTGGATGGCTAATGTGGTGGGCTGCTCTGCTCCTGGACTAGGGAAATGGGCAAGGAGGCGAGCTTGAAATTCTTCCATTCCTCACCTAATCTCTGAGGGAATGCTTCAGGTCGATGTATAAGAATTGTGGAGATAAGGGAAACATTGTACATGGTTGGTGGGAATGTAAATTCATACAGCCACCATGGAAAACACTATGGCAGTGACTCAAAAATTAAAAACAGAACTACTATATGATCTAGCAACCCTGCTTCTGGGTGTTTATACAAAATACTTTAAATTGATATGTCAAAAAATATCTGTGCTCCCATGTTCATTGCAGCACTATTCATAATATCCAAGTTGGAATATTGAAACTTGGAACATTGGAACAATATATGGAACCAACCTAAGTGTCTGTCAACAGATAGAGAAAATGTGGTATATACACACAAGGAAATACTATTCAGCTTTAAAAGTGAAGGAAAATCTGTCATTCGTGACAACATAAATGGAATTGGAGAACATTATGCTGACTAAAATAAGCCAAGGCATAGAAAGACAAATACACTTTCTCATATATGGAATGTAAAACAATCAAACTCAAAGAAGCAGAGAGTAGAATGGTGGTTATAGAAGCTGAGGGGATGAGGGCAATGGGGAGGTGATGGTCAGAAGGTAAAAAGCCTCAGAAAGGAGAAATAAGTTTTTTTCTTTGTGACATATTACACAGTATGGTGAATGTAGTAAATAATATACATTTCAAAATTGCTAAGAAAAAATTGCAAGTGTTCTCACCACAGGAAATACTTGAGGTGATAGATATGTTAATTAGCTTGATTTAATTATTTTACATTCTATTCATAAATTGTAACCTCACTTTGTATCCCATAAATATATACAACTATAATTTGTCAATTTACAACTAAGAATGAAAATTTTTAAAATAATTTAAAACTCCTGTTACTTTTTACAAAGTTTCAGTTACACAAGATGAGTAAGTTCTAGAGAGCTAATGCACAGCATGGTGACTATGGTTAACACTGTATTTTATAACTGAAATATGCTAAGAGGGTAGAGCTTAAGAGTTCTGATCCTCCACCTCCCCACACAGAGAGAAAGAAAAGATGATAACTATGTGAGTTGATTGATACTGTAATTAGCTTGACTGTGGTTTTAATTTCACAATGTATACATATACAAAACATCGAGTTGTATACCTTAAATACAATTTCTATTTGTCAATTATACCTCAATAAAACTGAAAAAATATTACTCTTGTTCATGCAGTAAGTAAAAAGACTCAGTGACACATCACTTTCATATCCATGTTCTCCATCTCTAAATTTGTTGTTGTCATTATAAAATAGAAGACTAAAAGAAGGGGCCAGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTCAGGCAGGTGGATCACTTAAGGTCAGGGGTTCGTGACCAGCCTGGCCAGCATGGCGAAACCCCACCTCTACTACAAATACAAAAATTAGCCAGGCCTGTGCCTATAGTCCTGCTACTCAGAAAGTTGAGGCAGGAGAATCACTTGACCCTGGGAGGCGGAGTTTGCAGTTAGCCAAAATCATGCTACTGCACTCCAACCTGTGCAAAACAGAGTGAGACTCCACCTCAAAAAAAAAAAAAAAAAGAAGATGATTATTAAAAGAAGGGGAAATCAGAACGGAATTTCCACCTGATTAAATACTATTTTTTCTGGTCAAAAACATTTCCTGCATAGGAAATACAGTTTCTCTATTATGTCAATCTTACCCAATCTATGATCAATCTTAGTGCTGGAAACCCCCTACACATGCGGAATAACTTCTAAAGACTTTTCACACAGAAAATACAATACTGAACTATTAATAGAAAGGAATTACAGTTTTAGCTGTAATATGTAAAAAACTTGGAAGTTGTATTAAAGAAAAAATTATTCAGTGATATTTGCTAAAGCATATTAAAGAAGACCTTATTTAAGACCATTGAGATAGGCACGGGGCCACTGCAACAGGGTCTTGCAGTGGAGGAAAGAGATTGGACTCAACTGTGAACACAGCATGGGCAAAGCGGAAATTTATAGGCGGGGAGCAGGGTAGGGGCTAGTGGATGGAAATTACTAATAGGAAACATCTGTGATAAGGGGGACTCTGGCCAAATCAACTGAAAGTATCCTTACAGGGTTAACAAGAATTACACACCAGGGTCTGGACAGAAATATAGTTATAATTAAGCATTAATCAGGCTGCACTTTGGCTCACTTCCTTGTAACTGAATCATGTAGCACTAGATACTGACCACTTACATCCCCATTGTTCCTACAGATAGGAATTCTGATGTTAGAGTCATAGGCTTTTGTTTAAGAATTGCTTAAGATGTTCTTTAGATCTGGAATTCCAATGGAATGACTGATGTCAACCAGTTTGAGGACCTCCACAGAGAAACTGAATCAGCATGACAATGTAGTTTTTTCATCTCTCAACCCATGACTTCACCCTGCACTCTGCAAACTGTACCACTCTGCCACACTTTGGCCCACCTAAAATTCCTGTCCCAAATTTTTTTTAGGGCGGCAGTTTTGAGGTTTCCTACTGTTTCTTCATTTGGCTGCCCTATGATTATTAAACTCTCTCTGCTGCAGTCCCCAGTGTCTCAGTATATTCACTTGCTGTGCATCAGGCAAATGAACCTATTATATGACCTAATAGGATTCTTGCTGAAGATATCCAGGATGATCAGATATTGGAGATAGGGGATTCTTGTTAAATTGACTTAGCAAGGATGGCTAAAACTGGATTTTACCAGGAAGTGCACAGATGGGCAAAGGTTCAGATGGCCAAGTAAATTTGGCCATCTAGGATTAAAGAGTCATTGCTAGTTGTCAACTTATCCTTACTACAAGAAAAAGCTGGACAAATTAAAAACAAATGACTTACCTTGGACACATCAGAGAACTGAATTTGCAGAGAAGACGGCCACCCTGAAATCTGTTGAGACAGGCATATCCAGAACATCACAGGAGAGGTCTGCTTACCTGGGGTAGAAGCGGCTAGAGGTGAAAACAGGTAGATGCACTTTAAATGGTAATTTTGGTAAATTGCTAAAGGCTGAGCGTGGATTACCTTGAGAGTAAGAAACACTTGGACGCTTCAGTCTCACATTTATAGGCTTGCCCTTCAGGAAACCCACCAGGTTCTCCTAATAATGATTTGAGAAAATTCCCCTGCAGACCCGGCAAGGGGAGGGGAAGAGTAACCCTTGTGAAACAAGCCCAGAGTGTTCTTATAACGAAGCCCTACTCTCCCGGAGAAAGGACTTCAGTCAGATCTCTTTCTCTGTGATGACTCTCCCAGTTCTGCTCTTCTCAGTATATTGGCTTCATTATCAAGCCAGCTCTTTCATAATGGCAAAGTAACCGCTGCAGTTCCAGCATTCACATCTACATCCTATGCAGACCAGAGGAAGAGTGTCTTCTCCACTAGCTCTCAAAGAGCAACAGAGTCTCTCCCTAATTAGCCCCCTGAAACTCTCCCTTATGTTTTATCGCAACAAATTGGGTCATAGTCCCATTTGGAACCAATCCTTCTGCCTGAGGGAATGTCATGCGTTGAGTTTCTTAGTTTGGGCTTTTGGGAGTTAGGCTAGAGTTGGGGAATTACTTTTAAGGTGAGGGAAATATCTGAGCAAGTGTTCAGAAGCTTGCTCAAACTATTTCCCTCACCTTGAAAGTAACTCCCCAACTCTGGATGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTAAGTATGTCAAGACCAGCCAGGCCAACATGGTGAAACCCCATCTCTACTGATAATACAAAAAATTAGCCAGGCATGATGGCAGGCACCTATAATCTCAGCTACTGGGGAGGATGAGGCAGGAGAATCACTTGAGCCCAGGAGGTGAAGCTTGCAGTGAGCTGAGATCACACTACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCAGTGTCAAAAAAAAAAAAAAAAAAAAAAAAGTAATTCCCCAACTCATTCACTCACCTCTTCTCTCCATCACCACATTCTCTCACTCTCTCTTTTTTTTTTTAGGTTTTTCCAAGAATATGTAAAATGAGACTTGGAGTTTAATTAAAATCAGAACAGGGATACATTAAACAAACAAACAAAAAATACTTTTCTGATTATCAATTCTTGAGACTCAAAGCATCCCCCAAAACATTGGATATCCAGCTTATTCCCGAGAGACATCAACCATCACAAAATGTTTTCACTCTGAACTATTCACATTTTTGTAGCAGAAAACAGAACAAAGTTCTGCAGACATCCTTTCTCTCTTCTTTCTAAAATGTATTCACAGACAGGGTCTTTTCATAGTTCAAAAGAAAAACAGGTTTCTTTCTTGGCCAAATGGCCTTCTACTCTCACCCTGGGATCTGATTTCTTAATAAGAAAGTTCAGGGCACCAAATCCAGCCAGAAATTCCCAGGACACCATTGGCTACTTAACTATGAGGGGATGGATGCTTTAGTCTTTCTATGAGGGGAGTCATTCTCCCGGGATTATTATGTCAGTCGATAGTCCCTGGAGAGGTAGGTGGGAAGGAGGGTGAATGCAAAAGCTAAAGGGTCAGAGAAAAGAATGAGGCTTTTATGAACAACTCATAGCAAGGCAGAATGGTCCAGTTTTACAAACCACCCACTGCAGACTCCAAGCATGCACACCCAAAAACTAGAGGGGAAACGAAAGAGTTCCTGGGGGACAAGGGGATACAAAACATGGTGACATAGAACAGCAGGCTCGCCTATGAACATTTCTCACCTTGCTAACACTGGAAGATGTTTAACTAAAAGGTTGCTGTTCAAAATTGTACTGAAAACATATCTAAAAATAGGTCTGTCATCATCTTAAAAATAAACGGTCACTTCTCAGATAAGAGGAGTGACAGATGTTCTCATATACCAACACTTGAGGTATATTTGATGTAAATTTGAAAAATGGCCTGGTAGAGAGAAAGGAAAGAAAGGAAAGAGGAAGACAGTGAGGGAGGTAGGGAGGGAAATTCAGAGTACAATAGGAAAGGCAAGAAAACTGGTAGGAACACATTTTTTAAGCCCGTGCTTATCTATCCCAGCAGCCAAACAAAGCAGATCCAGAAAGGAAAAAAATGCAGTTTTTTTTCTAAGAACATTCTGAAAATCAGCTTCAAACTCAAAACATAAGAAACTGCAATCTGAGAACAACTATCACAAGGCTCACTGGACTTAAACATGACGACTGAGACTGGGCACTCAAATGGGTCAACGCTCTTCAGAGGTCATTCTTAGGCGTTATCTGACACAATACTATGATCAGGCCTTACCCACCAAGTAAAGGCTAAAGTGACTCTATTACTTGGTACGGACCTGCTCTAGAAGCAGACAAAATCACCTCGCTTTCTTGAAGTACAAGAGGACTCTGCCAGCAACAAGATGCAAGCAAGAAGGAGTGGCAGAAGAAGAACAAAACTGGTTACCAAAGGCTCTTTTCTGATGCACAGTGTTAAACATACCTGCACAAATGCTCTAAGTAAAAGAACGGGAAGATGAACTATAATACCAAAGACAGAAGACATTCCTCCTCGAGGAAAGAAGGGAAGGGGACCTCAAAACAGTGTCACAGGGTAATGCTACCAGAGTTGGCCAAACTGTGCTCTGTTCCAAGGGACAAATACCTCAAGGTGAAAGGGAAAGCAGCTCTCTTTTTATCATTTCCCCTTGCTGGCTTTAAAGACCCCAAGCCCAGACTCTTGCAACACTGAACCATAGGTGGGATGCAGGGAGGAGAGACAGAGGGTAAGGAACATGAATGGTGTTAGGCCCACAAAGCTTCTGTATCCCTTTCCCAGACTTCCCAGCCAGGCAGTTGTTGGTCGTTGATATTTGATTTGGGACAAAATTGCAAGGTATGAGGCTGGCTCTCAAAAAAACAACTAGGAAAGCCAGAGTTTAACTGTTTTCCTCTAAACTGAGCTCTACAGAAATACACCAAGAGCCTTCAATCTAACCTGTTTAAGTGGGAAGGGGAACAGGAGACATTTAAAGGCTTAGCTCTAGAATCACCTCCTTCAGGATCATTTCCCCTACACACAGATTGCTTCAGGTGCTCTTCTCCTTCCTGTTCCTCCATTGTGGCACTTGACAGTGTTACATGGTTGGTGGTTTGTGTGTTTCTTTTTCTCCTAGCTGTTTATGCTACTGAATTAGCAGCATGTAGTGCAGCCACACTTAGTAAATGCTCCACATTTATGTGTTGAAGATAATTGGTGAAATGAAATAACTTTAGCTTTAATGGTGGAAGCCTTGCTTGAGGCTTACTGGAATTATTGCATCTGATCAGAAGTAGCCATTGACTCAGAATTGTTTTATATAAATCCTTCCCATTCCTCTCTTTCTCTTGTCTTCCACCTCCCCTTCCTCCTCTATTACACGCAATGTATATCGGAAAATTCTAAGCACATCTGACTACTGATATTCAAGAGATTTGACCATAGAATTTTGGAATAAGTTGCTTCATTTTGGAGTCACATTGAATGTGAAAACCTGAGAATGCATATTTTTGGGCTGGCATCTAATCATTAATAGCTGTGCCTTTTCTCAAGCACTTCAAATTTCTGAATTAATACATGATTTATATATATCTGAATTGTAAATAGTATAAAAGAGCCTCATCTGCTTTGGTTCAAACTGCAGCCCTAACTCTCATCAGTTGTATGAATTTGAGCAATTTACTTAACTTCTTAATGCTGTTTCTTCATCTGTAACAGAGCTGTTGTGAAGATTTAATGAGATAATAAAAATAGAGCATTGGGAATGATGCTATGTGTAATAAGTGCTCAATAAACCTGAACTTTTAATTCTATTATTCTAAAGTAAAACAATGAATTCCACCATAGACTCAAGGTGTCATTATTTTTAAGTGATGTTTGTATATTAATTTGTTATGTATCCTAAAGCTTGAATCATTTATGCCTTCATGCTTTTTAAAATTCATACCATTTTCATCTTGGTCTTTTCTCCATACATTCACCTATTAGATATTTTTAAATTTTATTTTTTCATTCATTTATTCATCCATGGCAAGGCTACATACCAAAGTCTTCACTCTTAAATTTTCTGTAAGTCTCTCTCCCTCTCTGCTATCTCACTGGTATCCTGAGTGCTGTTGGTCACTACCACCTTCCCAGCTCCCACAAAACAGAAAAAAAAAAAAATAGATTCAAAGAAGCCCTGGTTCAAAGAATAAGACAGAAAAACTTGGAGGTTTGCCAGCAAAGTTGGATACATAGAAGCTCATTTGATCCATTCAATAATCCTATGAATTAGACACTATTATTACCCCGACTTTACATATAAGGAAACTGAGTCAAAGAGCAGTTAGGTAGCTTGACCAAAGCCAAACAGAAAGTGGAAGAGAGAGAAATGAAATCCAGGTTGTCTAGCTCCTCAGTTGGACAAAAATCATCTCATCCTTATTCTGGAATGACTCATTATTCAGTTCAAGGGAGAGGCAGAAAAATAGATATAACATAGGTAAGTATTAAAAATATGGATTAATGAAAAATGCTCAGAAAGCAGAGAGGAGGGAATGGCCAACTATCAGGGACATCCAGTCCTATCCTGAAGGATAAATGGATTTTCCAGGTGGAAAGGGGTGTGCAAACACTGTGGGCTACAGGAACAATGTGTGCAAAGACCAGGGAGGTAGAAGAGCCTGATTCAGTTTAAGGAATGCCAGAGGGCTGTTTGGATGTCTACACAGAAGGAGACATTGGAGACATGACAGTGGACACATACCCCAAAATATGGCACATTGGCATTTAAGAAAACAGCAGAATTAGGAAGGTCATCCCCACTTTACCCTCACCCTTCTTTTCTGAAGTAGGTCAGAAGTCCATTATTGAGGTGCCCTCCTTAAACTCAGAATAAAGAAACATTCTTATCTCTGAAGACACAAGGACACAGAGAAGCTGAACAAACAAGTCTTCCTAATGTTGGGACTCAGAAAATAATACCCCAAAAGTTTGGTGCTTTGACATGCTGAATACTTTACTTATTTATGTATTTATTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGAGCAGTGGCATGATCCCAGCTCACCACAACCTCCGCCTCCTGGGTTCAAGCAGTTCTCATGCCTCAGCCTCCCAAATAGCTAGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTCTTGTATTTTTAGGAGAGATGGGGTTTTTAGGAGAGATAGGGCCTGTTATCTGTCATGTGATGTTATACCAGAGTTAGGCTGGACTTGGTATCTTATTGCTACAAAGAGTTTATTCTGTGAGTCTAAGGATCTCTACTTTAATGTTAATGCTGCCTCAAAAAAAAAAAAAAAGACATTTACTATCTACTCTTTCTGAAGCCTGCTTACCTGGAGACTTCATCTATATAACAAGAACTTTGGCTTCCATAAGCCCTCTATTTTAACCCTAAGCATTTCTTTTTGCTGATTTTAACTCTCTAGGCAAAGCTTAACTCATTCAAGCAATTGCAAATCAGGAAATCTTTAAATCCACCTAAGACCTGGAAGCTCCTGCTTTGAGATGTTCCAGCTTTCTGGGCCAAACCAATGTATTACTTACATTTATTGATGTATGTCTTTGCCTGTAACTTGTGTTTGCCTAAAATGTATAAAATCAAGCCATAACACATACACTTTGGGCCCATGTTCTCAGGGCCCCCTGAGGCTGTGTCACAGGTCATGGCCCTTACATTTGGCTCAGGATAAACCTTTTCAAATATTTTACAGAGTTTGGCTTTTTTCATCAACATGGGGCAAAGGCTAAATATACTTTATATTGTACCACGAGGGCTATAAATCCTGATGAGTAATCTATTGTCTGAAGAGGGAGCTGGTTGTGCAGTCTGTTGTTCAGATAAATGTATTTTTAGGAAGTTTCTTTGTCAACCAATAACATTATTTGTAACTTAACCTCACTGGGTGAGAATTTCCCAAAATAGTAAAGTGCTGTTACTATAGACATTTCTAATTCTTAATCCTATTAAGCTGTGTGGTTGATACAGGTTAATATAGGAAGGGTCCCTCCTACCGCCGGATTTTTTTTTTTAACTAAGAAAATATATTTAAAGCATTAGCAAAAAGTAAAAATTCTAACACTTAGCAATGTAAACCTATGTAAGTTTAAAATAGGTAAAGGTAAAAATTAAGAAACAATTGCTTCAGTCCAGGTAAAATTTAGTACATTCAAGAACAAGGTTCATGGCAATGGGAATGGATAGGAAAGATATAGTCAAGTATTGTTCAGAATATGAAACTTAGAGGACATTATAGATTGAATGGGGAGGGTGAGGAGAGGGAAAGTGTGACCACCACAGCCATTTGGATGAATGATAAAGCTGCTTACTAAGATACAGAATGGAGAAGATGAAGCAGATTTTGAGGAATGAACTTAATTTTGGATACACTGCTGTTATTTGAAGGGACAGAAATGAAAAGGCACTCTCTCTCACTTTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCTACATATATATATATATATACTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCTGGGTGGAGTGCAATGGTGTGCAATCTTGGCTCACCGCAAGCTCCACCTCCCTGATTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGGAATACAGGCATGTGCCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCGGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTACTGGGATTATAGGCCTGAGCCACTGTGCTCAGCCTATATTTTTTACATTAATAAAAAATTAAGTGTAGTCTTTGCTGGGACACATTTAATTGAGGAGGCAGTTGGGAACACATGTCTGGAGCTCAGGATAGTAGTAAAGCCTGGTGGTCAAAGCAGAATAAAGATCAATGCTATGGCTCAGTGGATGGTAGCATCTGTCCTTGCCCTGCCCTTGCGGGATTGTAATGTATTGTGTGTGTATTAAAGTTGCTAAAGCATTGAGACTTGTTCATTTTATTAATTCAATGAAACTAATCAGGCATCACCATGGTTAATAACCCTCCTTGTAAACCACAGCAGGAAATTTTCTGATTCTAGGCAGAACACAATGGCCATAAATTTTGCACTATGAATTATAGAAGAATGCAGAAATCCTATGCCAGTCCTTAACTGAGCAACCACAGGAGGGCTAATTGTCTGCAATCCTCTCTCTTCCTCATGCTCAAGGTCTGGGAACTAATTTCAATTGCTGATTAAAATGGTCATTTCCTCCCTTGTATTTCAGTGTTCATAACTACATCCTTAGAATTCCACAAATTCCATCAAGTGTTAGGAGTGATGGAGCTGTATAGTAAGGATAAGTCTTTCACCCAGTACTGAGGACACAGAGCTAATAATGAATAGGAAAGGATGCAAGGGGCATGCTGAAAAGTTAGAGGCTACAGTGGCTAGGCCAGTTTCACCATGATGTAGTAACTGTTGGAGTTCAGAAAGTAATACCCCGAAGGATGACGCTATGGCATGCTGAACACTTTGAACTACAGTGAATTATAAGAACTTAGAAGCAGCCCCAGAACCAAGGACTTTTCAACATTCTCCTGTGTTTCCCCCTAAGTACAGGGTGGAAATCTCTCTCTCTGAAGTTCCAGTATCTGAAGTTTGGAATACAATTGCCTTCAGTCCCCTCCCTGAAATTGTATTAACCAGAGAATATTAGATTCATATCTCGGAAAGGAAGACTGAGGAATGTCACCACACCTAGACACTTTGACACAGGCTATTGTTTTCCAGTCCCATTCAATTTCCAAAGAGAGTTACTTACAAACTATCATTTATTCTTTGGGCTCAAACAACTCTCCTGAAAATAATTTACTGCCATTCAAAATTGCTTATATTCCCCCATTTCCCTATCTCCTGTAAAGAGAGTATTTAAGCATCAACCATTTGGCCCTTCTTTGAGTATCGTACCTTGCTTGGCTCTTGTGCACACTTGCACATTAATACATTTATGTGTCCTTTCTCCTGTTAATCTATTGCCAGTCTATTGCAGCAGACTTGAAACTTCAGATAAAGGAAAAAGTTTCCTTTGCCTCTAACATAACCAATATTCTAGCCAAGGGAAAAAATTTCTTCATTCTTCTTCAATGTTTACTCTAAGATATAAGCCAGGAAGCTCCTAACACTTTTATGAACCTTAGAATCAAGTAAAAGAAGATCTTAAATTAAAGACTTCTGAAAAACTGAGGTTAAGTCCAGACGACTTATTCAACTCAGAGTCTTGAATAAAGCAACTAGCGGCAACCTCCAAAATTCAGACTCTTTCTGAGTACTCTTACACATCCAAGGTCAAAGGAAAGGGCTTTAGTATGGATTTTCATTTCTTTCTCTCTATGAAACTGGATTTGTTACCTGTGATCAAAGTTAAAGAGGTATTTACACTTGAAGGCCTACAAGCCTTCTAAAAATATTGTCTGCAAAATTTTTATTTAACTCATTTTTAAACTTATTCATTATTGTTAAAATAGTAGAAAACGGATTAGAGTTGAAGGCAGATAAACTGAATTCTAATTTTAGCATTTCTTCATTCATCTAAGCAACATGTTTGCAAATCTATGTAACACTGGGCAAGTGATGGAACTTCCAATATGCCTCGACTCTTTCTTCACAAAATGAGTGAGTGAGATTAGATGATGTCTAAGTTCATTCTAGCACCAATATTCTTTTATAAAATTAAAGATGAGTTCTATTGGGAAAAGAATAATCCTACTGAATTGTATTTATCTCTTAAAAAAACCAAATGTCACATAAATAAATAAAAAATGGTGTAATGGTGAAACATTAATAAAGATACCAAGTCAGAAAGAACTGAGCTTGTCAATAAAACCTAAAAAGTGGCAGATGCCATGTCTGTAATCCCAGCACTTTAAGAAGCTGAGGTGGGTGGATCATTTGAAGTGAGGAGTTTGAGACCAGCCTGGCCAACATGATGAAACCCTATCTCTACTAAAAATACAAAAAATTAGCCCGGCGTTGCGGCGCACATCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCATTGCACTTTAGCTTGGGTAACAGAGTGAGACTTGGTCTCAAAAAATAATAATAAATAAATAAATAAATGGCAGACTCAAGGTAGTGCCATGAGAATTCCAAAGCTTTTAGTCTGAAAGATGCTTAATTTATATGTCTTACAGTTGGAATTCTATTAGGAAAATAGTGGGGATTTTTGTATAGATTTTCTAACCCTACCAAATTCTTAATTCTTAATAATAAAACAGAGGAGAAAATTAAAACAGAGCCAGAGCTGAAACAAGCATCAGAAATACTGTTTTGCTTAACCATGTATTTTCTTTTCTCAACCATATTTCTATTCCACTGCAAGGTGTATAGTCGTCTAGGTTATAACAATAACAAGTCACAAACACTGTTAAGCACAGCTATGTGCCGAAGAGTCTGTTAAACGCTGTACACAGTTTCACACTGGATTTTCACAGAAATTCTATAAAATAACCATTACAATTACCCCCCACTTAACAGTGCAAGAAATGGAGATTTTGAAGTCCCTTTTTGTTTTTTTCGTTTTTTTAGATGGAGTCTGGCTCCATCACCCAGTCTGGAGTGCAGTGGCGCGATCTCGGCTCACCACAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATTTTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCAGCCTCCTAAAGTGCTGGGATTACAAGTGTGAGCCACCGCGCCCAGCCTGAAGTCCTTTTAAGTAACTTGCTTAGGGACACACTACATAGCTAGGAAGCATCAGAGTTATAATTCAAATCCAAGCCTCTCTGTGCTTAAAGTCAGAGTTCTTGTTTCTATTCATATTTCACACTTTCTTTTCCTCGTCTCTATAGAACAGTGGATGCCATAATGATCAGTGCTGACTCAAAGGGAAAAGAGAGCTGTTCTAGGTATGAATTATAGGCACATGGTGTCCTTAAGAGAACCTGGTGGCAGGGCACAGTGGCTCACGCCTGTAATTCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGACTATCCTGGCTAACACAGTGAAACCCAATCTATACTGAAAATATAAAGAGTTAGCCTAGAGAAGTGGTGGGCTCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGAAGGTGGAGCTTGCAGTGAGCCGAGATGGTGCAAGTGCACTCCACCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAGAGAGAACGTCGTAAATAGTTGTTGGCTTGTCTGTGTAAGTTGACTTCACCACAGAACAATTCTGGAGATAAATTTACTGACTAGAATTTTACCAGTTATTTAATCCAATATAAAATATAACATCATTTCACATAATGAACAACACATGGGTAATGAGGTTCAGAACATACCACCCCAATACATGACTATAGGAGACAAGAATATGCCACTGTAAAAATATGCCTCTTTGGCGTATTGATTGTTTTGAGCTGGTTTGAGAAACTACAGACAGATAAGCTCTGAAAGGCTATCCTTTTGTAAAGAAATGTACATTCATAGAGGAAATTTTCATTAGTAAAGTTATCTGTATCAGGAAGAGAGCTACTCTGAGACAACTTTTGTCACCTGAGAGATTTTTATCTGAATAACAAGGCAACTTTTATTCATTGTATATTTCCCTCCTTTACCCTCCCGGAATTTGTCTCTATCAGCCCCTAGAGGCCACAAAATCCTATTCGTTTTTGCAGCTCAAAATGATATATAAAACTCAATCATCTGGGTGCTTCTTTGAACCTCATATTTTTGTGAAACTCCTGTGTGTACGTTTGCAATTAAAATTGTTTTTCTCCTGTTAATCTGTCTTTTGTCAACTTTATTTGTAGACCAGCCAAAGAACCTCAAGGTCTCATGGTGAGTCATTTGCAGAAACAAGGCAGAAATCTGGTCCATCATTTGGCCATATGGTCTTTTAGACCTATCATTGTTCTGGGAAAGTAAAAGGTGATTCATTTCTCACTATTATTTTTTTCTGTGTGATCCAGCCTTTCATGTGTAAATTAGGGGCTCCTTCTGCATGTGAATAGGAGTGGCGGGAAACAGACTGTTAGCTGTGTCTCCTGATCTGTAAGATTTGGATAATTTTTCCATAAACCACCATTTGAGAATATAATTCCATGCTTACTACTATAAAAATCTGAAAAGTCTTGAGGTACTCACAGCCTTATGGTCACTCATAGCTCTGAACCTCAGCGTCCAGGGACTTAGGGGTGTTCATGGGTTTATCTTAATATCATGCTTCTCCTGGCTTTGTTTTATACCTTATTAGCCAAAAACATCAACTTCAGACCTTTCTTCACATTCAACTTTAAAAAAGATCTTCTCTCAAGGGCTTTATGTAAAGCTGATTATGCTAAAAATTTGGACTGGTGCTGATGACAGAGGAAGGATTTACATCTCAGCAACATAAGCAACCAAAAGTTAAACATTAGATATTTGTGTTCATAAAATTTCATCAGCCACTTTGCTGCAGGGGATGTGAATTCACTGTTTTAAAATGCATAGTTCCTGCTTGGGTGGTTTCTCCATTTCTCCATTCCAGTTTTTTATCCTTCTCTCCTCTGATCCTGAAATCCCTATTCTTTTCTCATATACATACCATATTAGTGCATGCAGTCCTGAACTCAACCATAGCACCTGTGTCTCTTTGCCTGAGTGTTTTGTCTGGTCATCTCAGTCAGCCCCATGCATATGATTATGCATGTCTTAGGCCAAAATTACTGGACAATATCCCCTCCTCAGATAATTCTTAACCGATAATTGATGGATACCCATGCGTAGATAACCCAGGTCCCTTACCCTTGGTTTAGGTGACTCTGAGCCTGTGTTCTAAAGGGAGTCTTAGAATCCTTCAGCATGTTTAAGCTCTCGTTGCTAATACATGTTTGACTGGTTTATTTCTCTTCTCAGTCTCTCACTCCCCTACCAGTGTTTTACGAGTTCGCCTCCCATATAAGCCAACTGTTCTCAGATCTTTGTTTCAGGGTCTGCTTCTGGGGGAATCAAAAATAAGAAATGCCCACTTGAAAGATTTGTGAGTTAATTCCCTAAACATGGTTTTCTCCCTAAAAGGAATTAGGATGCAAATTGTTAAGATAAAATATTTATTTTTCCCTTCTGCTCTAAGTATACTTGTCAGAAAGGTTTCCTAATATAATCAACATGCTATTTGGGGGGTTAAAACAGCAGTGACTCTGAAAGTGTGAGGTAACCAAGGCATGCTGATTTATCCTGATCTTCCCATAAAAATGGCATTTTATTTAGAGCATCAGTACTCTTATGCTGAAGAATCACATGTCAAGAGATATCAAGGCTTAAGTTGAAAATGCCAGTAAGAGTATACCTCATATGTGCTTCTCAAGGAAATCCATTTTAATTCCAAGGTGAAGTTTGAGAATCATGATTCTTCTCAGCTTTATGATAATTTAGGAAATAGTAATTCAGCATTTACTATGTGTTCAGAACCATGCGAGACCTAGAAAATATAGAGATAAAAGTAACATATTAGGTGCCCTGCAGGTGTTCATATTCTAATGGAGCAGACAGGCTTTAATCAGCTATGTTAATTCAATGTGGTAAGGGCTCTACTGGAAGGATGCATAAACACCATTTTAGCAGGGTGTTTAGTCTTTGCATGAAACACATACTTAACAATGGCTTACTGGATAAATGGAAGAACAAAATGAAGCCTTTCTAGGTGAGGAATGGAGTTTCCGTACTCTCTTAGATACTTCTGAAATTGTCCTGGGAAACTTGTGTCAATAATCTTTGTGCACAGACATAAAAATTCAGGTTTCAACTTTAATCAAGGATGTTTTAGAGTGTCAGAACCAGGAATGACTTAGAGATTATCTAATTCATTTAGTGAAAAAAATATAAAAGCTAATGGAATATTCCAAGGTCAAATAGAAAAATCATCCAGTTCTATCCTATCATCTTTTACATAAAGCCTTTTCCATATCACACACACACACACACACACACACACACACACACACACACAGAGAGACACGCCCACACAGAGAGTCATACTCCTCTACTCAAACAAGTAAAAATTTGAATTAGAAAAAATAAAGCACCACATTTAGCTAAAGTTTTCTCCAATGTTTTCCAGGGAAAGAGGAAATTAGTACAATTGAACCATTTCAAATATTACAAGACCAGTGTATGACACAATGCAATTGGATTTAGAATAATAGCCTAGGTTGCTTACAAAAGTCCACAGATTACTGTTTTGGGGACAACCTCAAGATTGCCTTTATGTTGAAGAAGATCCTGGTTTATATCTTCAGTTTTTCAGGAAATGTACTGTTTATCTCTCTATTTTTCAGGGAATTTCCCATCATTAAATCTCTAAAAGAGAAAACAAACCCTTCTGGAATTTTATTTTGCTGTTAATTTAAAAGGGAGAGAAAGAGAATGCAGTAAAAATTTTAATTAAAACTGTAGCATTTGGAAGTGCATGGGTTAAGGTTACACTGCATTTATAGGAAAGCTCTTTCCAGCTTTGAAAAAGGAGAAATAATTGCATTGCCAGATTGTGAAGATATGTATTGACGGTAGTGTGAGATGCTCTTGATATAGATTGCCATTGACTTGAATAACTGGCATTTTGCTTAAAAAATGTGATGGAGCATTGACCAGACAAATGCAGGAAGAAAAATGGGGCTAGAGAAATGGTTTAATCATGTTTTAAAAACATGATTAGCAGGTTGAAGAAGAAGCAAAAGTTTTTCTTCATTTATGCAGCAAGAAGACAAGAGTTAGAGTTTCTTAAGATGGCCCAAAAGTTTCTGTATTAAATCATTTGAATGATATACATAGATCTAGAAAAGAATGCTCTTTTCAGAAGTTTTACAAATGGAATGGAAGTGACTGGCCTGACGAGAATTAGGTGAAAGATGAATGTGTGAGTCTGACAGTAGAGAAGCCAGAGGGTTCATATACTAATGAAGTATCTGATTTTAGTGGAGAGGAAGAAGCATTTTTTTTCTTTTTTGTCCAGAAGTAGTTGTGAATGATGGCTTAAAAGGCTTCGCTTGCTAATTTGAAGTGATAGCAGTTTAATAAATCACATCTCCCCAAATCAGAATTATATTGAGCAATCAAATAGCAAATCTTGAGTTTGAAAGTTCCATGCAACCAAGTAGATGTCAATACATAGATACAGAATACAAATACCCAGAAAGTCAGAATCAGACCTTAACTATCCTTTTATTTTCACTAAGCTGGGCCTGTATAAGTAGGCAATAGCCATTTTGCTAAAACCATATTGAGTGCCAACCATGTTCTAGACTCTGTGCTGGGCTGAGGATACAAGAGAGTTTATATTCTGGTAAAGGAAGACATTTAAGATGAACTAATACATTAGATGCAGTGAAAAAGTGCAATATCGAGGTACTATGACTGGTGCAACTAGAAGAATATTAGTAAAAGAATGATCTGAACAGGTGGATCAGAGAAGCCTTCACAGAAAAGAAAATGGTGGATTAGTTTCTTAAAGAAACAGTAGGAGATCACTAGGTGAATGAGTAGTGTCAGGGCCAGCCAGGCAGGAAGAGCAGGCTTTGTAAAGCCACAGTGGCATGATGTAGTATCTTATATTCGGAGAATTACAAGAAATTCTATATTGCCGAAGAGAAGGATGCAAGGGCAGGAGAGTGGGTAGGGGAGTAATTTTGACAAGAGATATGGCTGGAAAGTTAGGTAGGAGCTAGATCACTGAATTTCCTTGCTAGACAAAGTTTGTTGCTAAACTTTAACAAACTAACTTGCTTTGCTGCACTGAGAAAGTCTCAATACAATTTATATGGCTGGCTGTGTTTTGATGGGTCATTTTAAGAATGTGGAGCTATCAGGTTGTCTAGAAAACAATTCCGATGGTGGAAATAAAGGAGTGATGAGCTCTGGGCTACAGAGCTCTTGAAGGAGACCTTCACACATAATGAACTTATTTGAAGTCAAAAAAATTGACAGTGGGAACCGTGCTTGACATTATGAAATATAGGGAAGTGATGTTAGGCCAGTAAGTATGTTTTGGTATGACACAATGTATATTTGTTTCTCTGGGTTACATGGGAGCTTTATCTTCAGGAGAAAGCTCAAGGTGGTTGTAAAGGATTGAACGGTGTTCCCCCAAAATTCATGTCCACCTGGAAGCTCAGAATGTGACATCTGGAAATAGTTTTTGCTGATATATTTAGTTAAGTTAAAATGAAGTCATTTTTTGCTAGATAAATAGAGAAAACAAGATGAGATCACACTGGATTAGGGTAGACTTTAAATCTAATAATTGGTTTCTTTATAAGAAGAGGAAAGGACACACAGAGACAGACAGAACTATATAAAGACAAAGGCAAAGATTGGAGTGAAGTAACACCAAGCAACACGAAAGATTGTCAGGGGTCACCATAAGCTAGAGGAGAGATGGGACTAATTTTTCCCTTGGCGTTTCTAGAAGGAACCAACCCTGCTCATGGCTTGATTTTGAACTTCTAGCCTCCTGAACTATCAGGGTATAAATTTCTGTTGTTTTAAGCTAAGTTCATGATGACGTATTATTAAAACCCTAGGAAACTAATAAGATAGCAAAATATTTTGCTAAGTTGAGAAGTTAATAATTAGTCATCAGGGACTCCAGCAGATTTGGCATTTCATGAATTCTGCCTGAGATTTTGTCATGAAATCTAGATTATAATTCAAATTCCAGATAATGGTTTTGGGAAACAAAAGGGCTTAGAAAAATATTTAAAGTTTGAACCAGTCATATTTAGGTTTCCTTGCTGTCTGTTTCTAGTGTATCACAGTCTGATATGCTAAACAACATAGTCACTGATAACAACTAAAAATGGGTAACATATTAAAACTATGCATTAGTGAGCTAACAACATGGTAAGGCATCCTGAGAGTCCAATGATGTGAACATGGAGCTCCAGAAAGATGAGCCAGTTCTGATGTCAGCTTTTGCCCATCTACTGGGCCTTCATGACCTTCACTTCCTAGTTTGAAGGCTATCCGGGGAACAGGTGAGCAGGAGAAAACATATAGAGCCCAACCAAGGTAATGAGTCTAAATATGACCCCTTCTTGACACTGGGACTGAAGGGCACAATTACAGTGCAAGGGTGAAAAATAAATTACTCCCAGAAGGAAATATTAAGAAAACTTCTCTGTTACCATCTTGGTTTTGAGTAGAAGTGGGAAAAAAATATCTCTAGTGAAATGTCTTAGCTATGAGCCTATTTTCTGGCCACTTTGTAGCCTAAGTTTATATTACTTGTGCAGGTTCAAAAAACTTCAAGTCAAGGTTTAGTTTTAAAGTGACTCCAGGTTGAGACAAAGGCAAGTCCCCTCTAAATCACCTTCAAGCAGGCTTTGAAAAATTTGGACTGATAAAGTTCATCAGCATAACAAAGCTGGACAAATACACATGATGCCAGAGAGTAGGAGCAGATGTGAAGTATCTGCAGATACTGGAATGACCAAGTGAAGAATATAAACTTTGTATGTTTAACTTGTTACAATAAATAAAATATAAGATTAACATAAGTTTAGATGACAATAAAATATGATAAAAATGCCTGAAAATAAATCAAACAGATCTTTGAGATATAAATAAGTAAATTGAATTTAAAACCATAATAAATGGCTAAAGAGCAAATAGTATACAGATGAAAAAAGTTAATGAACTGAAAAATAGATATGAAAAAATTACCCAAAAGCTACACAAGCAGATACAGAGGTAGACAATTTCAAAGAGGAGAGTTTTAACATGTTAGAATGAGAAGGTCTAACATGCATCTAATTGGAATTATTAGGAATTATTTAGAATTCCAAAATAAAATAATGGAATGTGTGAGAGGCAAAATTAGAAGTAATTATGCCTGAGTGTTAAAAAAATAATAATTTGAGATAAATAATTTAAAAATATAAAAAATCTTAAAGACTTAATGAATTCTTAATTTCAGAAACCCAAAAACGTTTCCAAGCAGCTTAAATAAAAATAAATATACCTCTAGACATTTGTTAGTGGAATTGCAGAAAACCAAAGAAAAAGAGATGATCATAAATGCAGTCAGAGAGAAAAGACAGATTATCTGAAAAAGAATAACAAGTAGACTAACAGCAAACTTCTCAACAGCAGAGAAAGAAGGGAGAAGCCAGTGAAATATGTTTTAAAGTAACTGAGAGAAAATAGCTGCTAACCTAGAATTTTAAATCCAAATAAACCTATATTTCAAGGATAAATGTAAAACTATTTTTCAGGTAAAAGCAGAAGCACTTTGCCAAAAACAGATCTTTACCAACGGAACTATTTCAAGTAGAAAGAAAAAAAATCCCAGATGAAAGGTCTTAAGTGAAAGATGTGTTGATGAGCAGAGGAAGAGTTTAATATGATGCTACATCTGGACAAACACTATATAAAAAAATCACAGTGTCTTGTAGGCTTAAAAGAAGATAGAATTAAAATACATAGAAATATGAATGTATATTTTGGGAGGCGGTGACTAGAGTCAACTTTGATTAATTTTTTTAATTATGTCTATTAAAATTGCTGGCATAACCACTAAAAGACTAGAAAATCACTTATATAAGCTGCATGTTATTTGAGGGCAAAAGAGAATGATTCAAATAAAAAAATTCAATTAATAGAAGTCAAAGTAAAGAAAAGAAGTTAGCAAAAAACAGCACACATAGCATAAGATACAGTGGTGACAACAGCTTTAAATATATTACAAATCACAATAAATGCAAAGGGCTAAACTCTTTGAGACAAAGATAGTGAATGCAATGTGGTATCCTGAATTAGATGCCGGAACAGAAAAGGAACATTAGTGAAAAGGCTAATGAAATACAAAAAGTCTGTAGTTTACTTAGTTGCACTCTATTAATGTTGATTTTTCAGTTTTGACAAATGTATTGTTACCGGAGGGTCTTTGTTCTTAGAACTCCCAAGGTAGTGGCAGGCTGCTCCCAAGATGGCAGCAAGCCTTTGTTCTCTGACCTGGGGTTCTTGGCCTCACGGATTCCAAGGAATGGAGCCTTGGGCCCTGAGGTGAGTGTTATAGCACTATTAGAAGCCGTGGGTCATGGAAGAGAACCGTGGAACCCAGCGACTAGCATTCAGCTCGATTAGGACCAACCTGAGCACTTAGTCGCGCTAGGAACAATGGTGAGCCTCTAACCCTATCGGAGCGGCAATGGGTGCCTCGCTGGATCAGAAGCTAAACAGACACCCTGCCGGATCTGGAGGGGTGGAAGTCAATGGCGGGTCTGCGACGGCGGCGTTCAGCAGTGGTGGACGGTGAACAAAAGCTCAGCCTGAGCCGGAACAAACGCGGCCCAGAAGAGTGTGCAGTTGCAAGATTTAATAGAGTGAAAACAGAGCTTCCATACGATGGGAGGGGACCCAAAGGGGGTTGCCACTGCTGGCTCAAATGCCCTGGGTTTATATCCCTATAATTGTCCCTCCTCCTGTGCTCTCAGGCAATAGATCATTTGATTATTTCTTTACCTCCTGCTTTTAGCCTAATTTGTATTTTAGTGAGCCCTCTTATTACCTGATCGGTCGGGTGTGAGCTGAGTTACAAGCCCTGTATTTAAAGGTGAGTGAGGTCACCTTCCCCAGCTAGCCTTAGGAATTCTTAGTCGGCCTAGGAAGTCCAGCTAGTCCTGTCTCTCAGTATCAAGGTTATATAATATGTTAATATGAGAGGAAGCTAGGTAAAGGGCATATAGAAACTATTATACTTGCAACTTTTCTGTAAATATAAAATTATTTCAAAAAAGTTTATTTAAAAAGTCAAAGGTAGTTCTAATGGACTTTTTAAAAAATATAACTCATTTATGAGAGATATAATTAAAATGAAGAATCAGACTAGTTGAAAGTGAGAGAATAAAAATTATATGTCATCAAATCCCAATAAACAGAAATATGGGTGCTGGGCATGGTGGCTCACATCTGTAATCCCAGCACTTTGGAAGGCCAAGGTGTGAAGACCACTTGAGGCCAGGAGAGCAAGACTAGTCTAGGCAACACAGTGAGACCCTGCCTCTACCAAAAATAATGAAAAAAATTAGCCAGTTGTGATGGTGGCGAACACCTATAGTCCAAGCTACTTGGGAGGCTGAGACGGGAGGATTGCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTATAATCATGCCACTGCACTCCAGCCTGGATGACAGAGCAAGACCCTGTCTCAGGAAAATGGAACAAAACATACATATGGTATTGCTGTTATAACACATCAGACAAAATATGTTTAAAGAGGAAAGGTGGATACACATAAACATAGAGATGGAAAAAAGTCTGGGTCTAGTGGCTCATGCCTGTAATCCCACACTTTGGGAGGCTGAGACAGGTGGATCAATTGAGGCCAGGAGTTTGAGACCACCCTGGACAACATGGCAAAACCCTGTCTCTATCAAAAATACAAAAATTAGCCAGGTGTGGTGGCACACATCTGTAATCTCAGCTATTCGGGAGGCTGAGGCAAGGGAATTGCTGGAACTGGGGAGGTGGAGGTTGCAGTGAGTCGAAATCATGCCACTGCACTCCAGCCTGGGTGACAAAGCAAGTCTCCATCTCAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAATGATAGACAATGGGGACTGCAAAAGAGGGGAAGGTGGGAAGGGAACAGGAGTTGAAAAATTGCCTATCAGGTACAATGTTCACTGTTTGGGTGATGAGTACACTAAAAACTCAATCCCCACCAGTAAGTGATATATCCATGTAATAAATAAGCACAGGTACCCCTTGAGTCTAAAATTTAAAAAAATGATACTTCAGCAGCTTTCTGTGGGGGGGGGGGGGGGAAGAGTAGTGGTAAGCATGTCATGGCTTGTGTGACCTAATGTTTAGCTTCTGGGAAGGCTTCTTACCCCATCCCTACCTCACAATCCAAAGGATCACATTATATACTCCCATCAACTTAAAATACCATGTTTGATGTAGAAAAAAAGTACTTGCTCATCTTAGACGAATGAGTTTTCTTTATTAAAAGCAATATTTGATAGGTGAAGAGAGAGCAATTTCTGTATAACATCGCTGGCTACCTGAGGGGGCTATGAAGGTACTGAATAAAGAGACAGGGAACTCCTAAACCAAAGTTTACTTGGCATAAGACAACATTTTTTTCAGAGTATATATTTGGAAAACATTTGGTCTTAGACACGTTTATCAAAATGAAAAAGGTTTATAATCAATTGAGTTTAGAAAATAAACTCAGGGAGCATTACTAGAAATAAAGAGGGTTACTTCATATTTATAAGACAATCAACTCTCAATGTTGATAAAACAATTAAAAATATAGGTATGTCGTATTAGTCTGTTCTTACATTGCTGTAAAGAACTACCTGAGACTGGGCAATTTATAAAGAAAATAGGTTTAATTGATTCACAGTTCTGCAGGCTGTACAGGAAGCATGGCAAGGGAACCTCAGGAAACTTACAATCATGGTGGAAAGGTGAAGGAGAAGCAAGCACATCTTACCATGGTGGAGCAATAGAGAGAGAGTGAAGCGGGAAGTGCTATACACTTTTAAATAACCAGATCTCGTGATAACTCACTCACTATCACAAGAACAGCAAGGGGAAATCCACCTTCATGATCCAGTCACTTCCTGCCAGGTCCCTCCCCCAACATTGGGAATTACAATTTGACATGAGATTTGGGTGGGAACACAGAGCCAAACCATATCATCTGTAGTAACATAGCCTCAAAATATATCAATAAAAGATTGACAAAACTATTAGGGGAAAAAAGAACATACCCATCCTCACAGTTGGAAATTTTAATATTTCCCTCTCAGTACTTGATGGATAAAGCAGACAACAGTCAGAACAAATATTGATTATTTGGTCAATTCAATAGCAACCTTGATCTAATGATCTGCTCTATATAGGACGTTATGTTTAGCAACTGGAGAATACACATGAGTATTTTAGAAATTTTGAAATATTAGAGGTTGTTCTAATGACCTATTATTGATTTCTACCTTAATTGTATAATGGTTAAAAATGAAGTCTTTCTACTAAACTATGGTGAATTTCAAACTTGGTGATTTTCAAAGTCAATTTTCATGTCCTGCGTAAGCTTGAAAAGAAGGTCAGTATAGAATATTTATAGCCAGCTTTGAGAGAAATGTATAGTTAGAAACTTTTATATTAGAAGCAAAGGATGAATGTTACCATGCTAACATCCATTTCAAGGGGCTAGAAAAAGAAGAGTAGAATAAACTTAGGCATCTTTCTTTCCCTTAGTGTCAGTGATTAGAGAATCACTGTAATTCTTTGTTGAAATGTCACAAGACGAAAGACCCTGAAAATATGATGTGATAATATGACCCACTCCAAAAAAAGTCCCCCAGTGAGCTATGGTGGTTTCAATAATACTGCTTATTCTTTCAGAAGGCTGTGGGAATGTAAGGGTGGGCAGGACTAAGCTAGGCTAGAGGCTGGGGAAAAGAGCTCTCTGAAGAAAAAGGATTTAAACTGAACTCTCAAGGGCAAGCAGGATTCATCTAGCAAAGAACCCTTACTGTACAACTCTGAAGAAGACAATCTTTCTGCTGAGAAGTTTGGTTCCTCTTTTCTGGATTCAATAAAGTCTGACACAGAGCTCAGAGAGAACCTTGCCTGGCAGGGACATGGAAAAGCTGACCAGCACTAACCTCTCTTTCTCAGGAACAAGGTCTTTTCTGCCTCTTAACTGCTCAGAATTCATGAGCCAAAGATGTTTGTCTCATTAACCTCATGTTAGGGAGAAGAGGATGAAAATGAGTTGATCAATCAGGACTTTGTTTCCTAGTAGCTGATTATAATCATCCAGATACATATGCCTGATTGAAATTGTTCATGATTGAAGATTGGATAGTTGAAGCGGGCTGGTCTCATGGAAGTTTAATCAAATGTTTGATGCAGTGAAAAATGTACTGGACTGGGAGGCAGGGGACTCCAGTTCTTGTTTCTAGTTCATCTACAACCAGCTATGCGATTTGGAGAATTTCCTGTTATCTCTGTATTGCCAGTCTACTAATTTGAAATGAAGGGGTGGGGTTTCATAATCTATGAGACACTGTTGAGCTGACTAACATCTCTACTTATCTTCACTAGAGGGTGAACAAGACCTCCTGTGCTTTGGGTATTGGGTTTTGGGCAATCGAATGGCAGTGGTGATAATGATAATAGCACTAAAAATAGCTAACCACATTCTGAGGGCTACACATTTCACATGCCTGACTTCATTTAGTACTCACAATAACCCTATGAGGTAAAAAATACTCTTGGCCTCATCTTACAGTCAGGAACCTGAAACAAAAGGAAGTAAAGTAACTTGCCCAAGGTCATGTGCTCATAAAGCATGGAGTCAGGGGTGAACCAATCACACAGGCTGACTGCACATAGCAACCACATACACACTACCTTGCCATCTGAGAAGGTGCTTGGGGAGGGAGGAAGGGGGGACATGAGAGAGACCACCACCAAGTGAAAGAAGGAAATGGAGTAAAAGATAGGTTGGGGCTATGACACACTTCATCTGTTTCCCAATTTGGTTTAAGACAGGCCATGACAAGCCAGCCACATTGCACATCTCCAAGGGCATTAGCCACATCCACACAGAGTGTGTTCTTCAGTGGGCAGGTATGTGCAAACCTACCCCCAAAGTCCCAGGAAGCTGAGAGGCTGAAGAAAGAGGCTGGCATATTTAGTGTGGCATATTTCTCAAAAAGAAACATTTAATAGGGACTTACAAACAGAAGCCATGTTTGTGTCTCAGGTGTAGGTGAGACAAGATGGTGGATCCCATGCCGTTACTCTCCAGACCCAGGGCTTATATACCATAGAGAAAGGTGACTCAGAATGGATGTCTAGGATGACTGAAGTATAAAAGCATTAAGACTGTTTGACCTGAGGGCAGAATTTATGGTAAGTACCTGCTCTTACACAAGGAACAATAGATAAACTGGAAGTCTTAGAGGCCTTCCCAGAACAGGCTTAATTGAAGTCAGTGTGGTAGATCAGCATCCAAGATGGAGTTACTTTGGACTCCAAAGAGTGCAGTGTGAATGGCACACTCTGGAGTTGTCCAACATGCAGCCCTGGGCCAGGTAAAGTACAATAAGAGGGGCAGCATCTACTTCACCCTCTCAAAATCGCTTCCGTCCTTTCTTCTCACTGCTGGGGTGAGACTCAACCTACTCTAAATTTATGTGAGGTAGATGTAGGAGGTGGGAGGTGGAAATCAGCCTTCAAAAAGATAAAATTTTAATATGCTTAATATAAACCAGAAAGTTTTCTAAATTTAAAGCTCATTTATTCAAGAAAAGATATTCATATTAATACACAAAGACACATATGAATCTGATTGTTTCAGACCTACTAGCAGAGAGAATCTTCTTTCTGACCCTTTCTTCTTTTCTGTAGCTCAGGATATTTGGAAGATGTATACAAACTCTTGGCTTTATTTGGCTTCTTTCCCCAAGAAAATGTTGATCTTGCTTGCAAGGTAAACTCTTATAGGACCATAGACCTTTCCCTTTGTAGTTTAGGCAGTTTGCTGTCTGAGTAGATGATAGAAATGGACATAGAAATTCTAAATTAGTATATAAAGGGGATTTCAGTTTAAGGAGAGGTGATTAATAATGGGATCCTGGAGTTCTGAGATGATTGTTCTCTTGTCAAGAAGAGTATTTATTTCTTGCTTCTGCTCAAAAACAGGAGGGACCTATTACTAGAATCTTTGAGGCCCTTGAGAAACCAATGGGCTTTGACAAGCTATGCTGGTTTAATTGGAGTCAATATTCTTGTGGTTATGTTGATTTGATTATATTATCATGCCTGTTACATCATGATCCTGTTGAAGGAACAGCCTTATGCAGTTAACTTTGTAACAGGAAAAAATAAATGTAATTTACAAAATTAGACTTTCATAAGAATCATGTCATTAAAAAAAGAGAATCAATCATGTCAGAATTTTTCATTCGTTCTTTTACAAAATGGTGGATAGGAGGCAGGACTAACTTGTAGCTCCCACTTGGATGGACAGAGCAGTGTGTGGAGACTCACATAGTGAATTTTTGCTCCAAGAACTACTGCAGGAACATACTAGGAAAGCCGAGAGAATCCACAAACCCTTTGAAAGAAGCAGGTTGCTGTTGCAGGCCTCCGGAGACAGCTAAAAAACTGTCCAAAGTGTGAAAGTGTGAAAGGGGAATTGTCTGCCCTCAAACACACCCCCTCACTGGGGAACTTGAAGGTCCAGATCATGGGAGGATTTGATCTTACCTGGAGCTGAGACAAATTTAGTGAGCTGAGCAAAGTACAGGGGTAGAAGAAGCAGAGGGATGAGCCCTGTGGGGTCTTTATGTCCCAAGGGAAGCCGTTTCTGAGTTTGTCTCACAGAGGTCCTTGGGGAGGGCTGCCAGAGGAACTGAGAAAAGACCACAGGGAGAAGGAAACTTCTAGCTGAATTTGTAACAGTTTTCACCGAACACAAAGTTTCCTGGAGAGAATCTGAGGGTGTGTGGAGGGGTGTGAATTTGGAATGCAGACATAGCACAGAACCTGTAGCAGGTGGGGAGATGCTAAACTTGAAAACCCTGCGTGCTTTCTCAGCCGTGAGACTGGTAGCCCGGGGCAAGTTCTCAGCCCTGTTCACCTTCTGCCTGGAAATAAACTTGGTGCTGTTGGGGTGGGGGCACAATGGGAGTGAGATCAGCCTTTTGGGCTGCAAGGGAGCTGCGTGAATCCTGTAACTGCTGGCTTTCCCCTCTTCCCTGGTGACCTGGATGATGCAGCAGAGGCAGCCATAATCTTCCTGAGAACATAACTCCATTGGTGTGAGAACCACACCCATACCCCACAGTAGCTGCAGCAAGCCCCATCTAAGGAGAGTCTGAGCTCATGTGTTTATTTATTCTTTTGTTGATAGTTCTACCAGTAGAGTGCAGTGATTAAAGGTATTAAGTTTGGAATTTAACAGCTGGACTTAAATCCCAGCCTTCAACTTTCTAGCTGTGTGTTCTTGGGAAAATGATTTAATCTCTTGAGTTCAGATTTTCTTAATTGTAAATGGGATTAATAGTAGTACCTATCCGAACCCCCCTTTGCAAAGACATAACGGCAGGAGAAATCTAACGTGGCTGACTCCATCTTACCTCTAGCGTCACAGGCTAGCTGTCTTCACTCATTCCTGGGCATAGACCAAGCTATCCATGGGAGGAATTTAGTTTATAGTTTAACTTGGAAGAAGGGTGATAATAGTCCCTTTCTAAAACTCACCCCCTCCTTGCTCAGGGACCAAAAACTAATGAAAAGCCATGAGATTAGGATTAGGGGAGGAGCCTGAACTCTGCTAAAATGTAGGCATAGTTTCTATAATCCCTTACTGCTCAGGAGTCATGTGGTCAGAGTTTACAAGATTTATGACTTCCCCAGTTGCTTCTATAGATAACATCACTATTGTAGAACCTAAGGTTGGTCTTTTGAGATGTTTTTTAGATTTTTGCATTCTGGCAACAGGCCTGGACCTGTGACTCATGACTCATAACTTACCCAGTCCTGTGGCCCATACTCAGAGGTAGACGTAGTGTATGAGGATCATTTTTCACACCCCTATGATTTTATCCTCAACCAATCAGCAGTACTCATTCCCTAGCCCCTACTCACCAATTATCCATAAAAACCCTAGCCTCTGAATTCTTAGGGAGACTGATTTGAGTGATAACTTCCATCCTTCTGCTTGGCTGCCTTGTGTTAATTAAATTCTTTCTTTACTGCAGTATCATAGTTTCAGTGAATTTTTTTTTTTCTATGCAACAGGCAGGGAGAACCCATTGGGTGATTACTTATCTCCTAGATCCATTATGAGGATCAAATCAGATAATGATATAGTAAAAACTCAATAAGTGTAATCAATTCATATTAATAAAATAATACCTTTATCTAATGCAGAGAAAAAAGCTCAGTGAATAATATAGAATTTCAAAAATAAAATAAATATGTTTTATTTCTATCAAGGTTTATTTCTTACTTGTTTGGGATTCTGACAAGATTAGGGCTTTGAAGCTTAAAAGTAAACATAAACACACACACACACACACACACACACACACACATATATACACACATATGTATAATACACCACCCCTAAATAAAATTTACTTTTTCACCACAAATGAAATATTTTCCACTTCTGCCTAAAAGAATACTGAATGATCCATTTTGTTCTACAGAAGAGAGAATATATACTTCTCAACCACCTTCACTATTGAATATCCTTCTAGAAGAACTAAAAGCTTCTCTTTGTTATTGACCTAGGTATAGTGTGTCAAGAGGTCAGATGACAGTGTGTGTCTGGCCCCTTATTTGATTGTCTACTCATGCTGAAAAGATGTACAAAAAGCAGCATCTTCCAAAGTTGTAGAGATGGGAAGAGAGATTAAAGGAGACTCTCACTGATTCATACAGGGGCTTCCATATTGGTTTCAATTTTGAGTAGTGATTTTTTTCAGTTCATATTGAATCCTGCCTTAAACACAAGCACGTGCACCAATATTAACAATAAACACTAGCTTAGATAAATTGAGTTCTTATTGTGTTCTGTGCACTATTCCAATGTCTCTACAGGGATTTCCTTATTTAATCCTCATATAGAGACACCAGGAAAATACTATTATTATCCCTATTTAATGGATAAGAAACTGACTTAGTGGAGTTAATGACTTGTTTAAATCATACTGCTGATTGTCCTATTCATCAAATTTATTGAGCACCTAATCTGTGAAGGGCTCTGTGGAATATGAAGATAGGAGAGGTCCCCTTGGAGCTTGTAATCTAATGGCAAGAAGTGAGGCACTTTTTGTCCCCTTAGAGCTTGTAATCTAATGACAGGAAGTGAGGCACACAAAGTATACGCCCTATGTGACAGATGGATGCCATGGAAAGAAAGCTTATTCTTTGTTATTCTTTTTCTATAAGTTTTAAGTCTCCAAATAAAACATCATCTTTCATGTGCATGTACCTTTAAATATGTCATTGCCTCTACTTAGACTGTGTCTTCCACTAGTCCTCTTCTCCCTTCCCCCTGCTTTTTTCCTTTAGTAACCCCTACATGTGCTTTGAGACTCAGCTCGGAGGTTATGTCTTTCAGGGAGGCACTCTTCAATCTGGATTGGTTGCTCCTTTCTGCATTCTTATAATGGTTTTGGAAACCCTACAAAGTAAAAGTGCTGGGCGTTCACCCAGGGTGACACAAGTACCAAGACCTTTCAGGGTTAGACCATCTTGTACATAGGCTTTGAGTGGCCTTGAGGTATGATAGAGTGCCCTATTGGAAGAAGTGAGGGTTAAACACTAAGCCCAGTTTTACCACTAGAACCAACTTTGTAACCTTCAACTAATTTCGTTTAACTTCTTTGGACATTATAAAATGGGAACAAAAATGGTAACCTTTTCTTTAGCTATTTTAAAATACAGCTGTAATTTTTCAAACGAGGTAATATATACATGGCTTGTTAGTATAACTTTAAGAAAATTTTAAGATAATTGGGAGCCATTCCCAATTATCATGACTATTATTTTCAGATCTTGACTTTGAAGGGATGAATCTAAATTATAAAGTAGGCAGCTGCAGATGAACAAAAGAACAAATAGAATACTCTGCACATTCCACTCTACCTATCATGTCTTCCTTTATTATAAATTATTTCAGAAGTGCTCTGTGCAATCTTGTTTCAAATATCTCAGATAATAATTCCCCCATCACTTGTGTGTGAGGGTCATCTCAGAGGTATATTAACTGCATGGAGGAGGACATCACTTTTATATTTTTGTTTTGTGAACAAATCCAGTGAAGTTGACAAAATCATCCCCTTTTCCTTTTACATATTTGTGAAGGACAGTGCACAGGAGATGTGACAATTTTGGAGGCACAGAGTGAGGTTCCAAAATGAATAATCACCTCTTAGCCCTCTGTGAACACTGCTGCATCAGGAACCTGTGTAAACAGATACACTTGAGGAAACACTGCCTTTTCTCTGCCAGTTAATAGCATTGTTACTGACTTAACTGGCATCCAAGTTTTTTCTTCGTTGTTCATTGAACCATTTTTTTTCTGTAAGATTTTCTAAAGAAAATGAAATGGAAAATAATAAGGTAAGATTCCCAAGTGAAAATGACTTTAACTTTAATAATATTTTCATATCATAAATCAGTGCAGATGAAGAAATAAAATAGTCAGTCTTTTATATGAAAGTGCTTTCTATAATCATCACCTGAGATGCCAAAATTGTTAAACTCTCAAAGTGTGCAAATAGCCACTACAATGACCTATATTTGAAAATTTGGGGATCTTTGAACAATTCAACCAACATTCTCTGCTTGGCTATTACTATATCAATAAAAATAATGCATTGCATGGATTATAAGTTTGTGTTTAAAACCTTTGCCTTCATAGATTTCAGGAGGTGAATGAATTTGCCTAAAACGTTCTGTGTTTATCACAGAGAACATGCAGTGTGAATCCCACATTTTGTAAAAGAGAAAACGACAAACTCTTTCACAGCACAGAATAAAAATGAAGAAAATGATACAAAAGTGTGGCTGCAGGTAACCCCGTTTTCCTGGGAAACTACTGTGGTTCTCTCATATTTATAAGCCATCTCTTAGGAGGAGATATGCAGGATGAAATAGTTATTAATTCTTATGGTCTAACAAAGAGAGGAAAAATGTCTCATAGGGCTTGAAAGAAATATCCTAGTAACTTACTGTGGAATTGGATTTCAGATAAGGTGAGTATGTCTCAGATCCCATGCACAGGTATTATTATTATTTTTTCTGAACTACTAAAATAATTTTTTATAAGTTGGTCTTGAAGCACAGAGTCCAAAGAAAGCATTAGATTTAACCCCTGTGTATAAAGAAGGAGTTGTGCCAAAGACATTGTGATGACTTTGAAAATACACAAAATATCATGTTATCTCCCTTGTCTTTCACCAGACAAGGTTCTATTTCTCAATCTTGTCTGTCCACATCCAACTAGACAACTTACATGAAATGCTAATGAGATCCTGAAAGAAATAAACAGTGCAATTTCATATTCAGTGCCAAAAATTGGTGAATTTTAAATTCTCTCCTTATCATATTGAACAATGACCTTGGATAAATTGCTCACTGCATCTCACGGTTCATTTTTGAAACACAATATAATGTGAAGCCAAGATTTCAAAGGTGCACACCTCATTCTCCTCCATCGCATGGCTCTCTTCTCAGAGAGAGAAATGGAAACATTGCTTATCAACAAAATGGACTGGAGTTGGCACAGGCGTCAGGCCTTATTTTCTATTCATGATATACAGTAAAGAAAATGTGCTTTGAACCAAGACAGAGTCTTAGGTTCAAATTCCTACAGTTTACTGGCTGTTTACTCCAGGCAAGGTGCCCAACTTCTTTGAGTATCGGTTTCTGATTTAGGAAACAATAATTCCTGATCTGCAGAGTTATTTTAAGAATATGAAACAGTGTACATAAAATGTCAATGATTGGAGTCACTCAAAAAAATGACAGCCGTTCTTATTTCTATCTATGAAAGTGATTTTGTCTAACAAATATTCATTGTGTGCCTACTCTGTACAAGGCACTGGGGCAGGCACTGAAGCTAGTAACATTCGAATAGAACATAATCACCATCCATGGCCTAGGAAAGGAAAAGTTTCATAAGGCACATCTCCTCCTACCTTATGATATGTGCCATGGTGGTTAATATTATGTGTCAACTTGGCTATGCCACGGTACTAAGATATTTGGTCAAACATTCTTCTACATGTTTCTGTGAGGGTATTTTTAGATGAAATTAACATTTAAATCAGTAGGCTGTGTGTAAAGCAGATTATTCACCATAATGTGGGTGGGCCTTATCTAATCAGTTGAAGGTCTTAATAGACAGAAGACTGACTGTCCTTGGGCAAGAAGAAATTTTGCCGGAAGACTGCAACATCAACTCTTCCCCAAGTCTGTGGCCTATCCTGCAAATCTTGGACTTGCCAGCCTCTATAGTCACATGAGCCAGTTCCTTAAAATGAATCTCTATCTATCCATTTATCCAGAGATAGATACGTATTTCCATATATCCATATCTATGTGTGTGTGACTTATACATGTACTTTTATATTTTCTATTCTAATTTATTACATTAAATCTTTTCTTGAAAAATAATTGTTGATTGAGATCCACTAAATTTGGGTTTTATGATCCACTAATAGGTAGTGACTTGCAGTGTGGCAAAACACTTTGAAAAATGATGCCTTTCCATTTAAATATTGCACCTACTTCCCACCCCAATTTTGTTGCATTTTATTCTTAGTGCCATAAAAAACAGTTTTAATCTACTACTTTTGAATAAATTATTCTAGAAAAATGTGCAACTTATCCTCAGAAGTTTTATTATAACTTTGTCCAAATTTGAATAATTACCACAGATAAAATATCCAAGGGCTCATTTGACCCTGCTTATTAATTATGGAAACATAAAGCTAAAAAATAAATTACCCTGGTTTTATCTGTTGGTCATGATGACTCCATAAGTTGCATTTCCAATAAAGCAAAAATGTTCCATTTTTTTGTTACTCCTAAAAATGAAACATTGGGACTTTTCTAGCCCAATGTTGTTAACAAATGTAGTATTTGTTAACAGAAATGTACATTTGAAAAGTAAAGTGAGTACAGTTAGCTTTCTGTATGTATGGGTTCCACATCCATGGATTCAATAAACCATGGATCAAAAATTTTCAGAAAAAAAAAGGGACAGTTTCATCTGTACTGAACATGTATATAGAACTTTTTTTGGTCATTATTTCCTAAACAATGCAATATAACAACTACTTACATACCATTTACATTGTAGTAGGTATTATAAGTAATCTAAAGGTGGTTTAGATTATACGGGATAATGTGTGTAAGTTATATAGAAATACCACACCATTTTATATAAGGATTTGAGCATTCATGGATTTTGGTATCTGCGGTGGTCCTAGAACCAATTCCTTGTGGGTATTGAGGGATGCGTGTACTCCCAGTGGCCAAAGCTGGAATGATTTTAGCAACAAAGTAAGTATATTGGACTATAATTTAAAGCACAAAATAGATAGCCACAAGTCCATGATGCTATAAAAATGATTGGATAAATACATAAATGAGAGAGAAGAGATTAATCTTCTTTACAAATGAATTCTAAATAATTTATATATAATAATTTATCAGGAACTAGAGCTTAGTTCCTCTACACCTCTTCTTATCCCTCACTTCAGCCCCCATTGAGTGTGGGCTGCACCTACTAACTTGCTTTCAAAGAGTAGAATATGGGAAGAGCTAGGGCATAGGGTAAAATCACAGTAGGGAGACCTGGCAAATACTGTCTCATCAAGGCGATGGAAGTTATCATCAGCAATTAGTCATATTGATAGTGTGCATTCTTGACCTGCTGTACTTAGAATGACACTGCATTTCTGTGTTTTTTCTCCCAAAACTCATGACTCCAGGATAGCCATGAGAAAGATATTGATCAAACCCAAATTGAGTGACATTCTGCAAAAACTTTGATCAGTGCTCCTTAAAACTGTTAGGTCATCAATAACAAGGAAACTTGTTGTTTCTGAGAAACTGTCACAGATCAGAGGAGGCTAGGGAGATACTGACTCAATGTAACCTGGACCATAAAAAAATATCATTGAGGAAAAAAATTGATGACACCTGAATAAACTGTTAGGTTGATATTATGATGACATCTGAATAAACTGTTAAGTTAATAGTAACGTACCAATGTTGATTTCTTACTTGTGACAAAGGGGTCCTGGTGGCATAGAACAATAACAGTAGGGGAAACTGTGTAGGGCTATATATAAATACTTTGTACAAACGTTGCCACTTTTCTGTAAATTTAAAACACTTCTAAAATAAAAAAGTGTTCTTAAAATAAAATAAATACAGTTACATGAGTCACAGGGAAATGTACTAAATGCAAATAAAAGAATGTAATTTGAAAGTGTCAGAAAGTAGTGGTTGAATATATTTGAATTTCTCTTGTTCTCCTTGTGCTCCTAGGGGAGCAATTCTTTGAGGTTTAATTGCCTTTAAACACTTATGAATTGTATATTTAAAGACTATTGCATATCAGATTTTATGCCACAGAAACATTTTATTGAGTAAAATTGCTTATTCTATTAAAATTAAATCATTTTATGGATGATATTTTTCAAAATCTTTTTGGAGATAAAAGGAAAATTCAAAAAGCAATGATGATGTGTTATTCCAAAAAAAGTACCTGTGATTTTTGTTTCAAAATATCAGGTGCTAATTTTCATCATATTTTAAATTTCATTTGAATATTACTCTTCTATTGTAAACTTGTGCTGAATTCCTGTTGCATTTTTTTCTAGGAGAGGGAAAAGGAAGAGTTAGCTTTGGGATAGGAGATCAACACTGTCTTACATACTTAAAGACTCTGCTTAATGACATCCTGAGAGTCATCAAGAAGGCTTGATAGAGATAACCAAGATTTATATATTTGATTTAGTTACATTCAATGTAAAATTATCTTGCTCTTCTGAGGCATTGAGTCTAGACACTTCTCATAATAGAAAAATCCTTATTACTCTATTAGACATGAATTACTTCAGACAGTTTTTTCCAAAGTTCCATTATCAGTGTTGTTGCTAACTGACTGCATTAGTCTAAGGATGCTAATTGCTATAATGTAATCTCCAAGCTTTTATGGCTAAATATAATAATGATTTATATCTCATTCAGGTCACAGCCAGTGCAGGTCATTGGGGGCAGAAGGTTTGCTCCATGTATCATCAAGAGTGAGGCTTCTCCCACCTAGTGGTTCTGCCCACTATTACACTGGCAAAAATAGACACATGGGAGAGACCAGGAGTGTTTGTCCAGGCCTCCATTGCAGAGTCCAGGGGTATGCTGGTAAGTGTTTAATAATCAGCAGTCACGGAGGAAAAATTTTTAAAGCCTTGATTTGTAGCAATTGCAAATTTCCATGGTGCGTATATATCTCCCATGGTCTATCAGAAGCTATTCACAAAATATCAGGGAACATGAAACTGGGAAAAGAGGTGCATGTTCAGCACAAGCCACTTTGAGTTGGCTCCAATCCACCACCAAATAGTCCCTCCCTTCTGCAAATAGACACTGAGGAGAAATTTGGATTAAAGCTTCTCACATTACACATGTATTGTTGTTGTATGGGATGGTTGCCATAATCAGTTCTGAAGACAGTACTTTGCATAAGTTTAGACTAAGGTGCTGTTTATATCATATCTGTGTGACTCATGTCCCAATCTGCATAGCAGTCTGTGGCAGACCTACTATGGAATAATGCTGCTTGATCAAATACAAAAAGAGCAAAAAGAGGAAAAAAGAAAGAGAAAAAATGTTTTCTTTCCTCATGAAGTAATAACATCTAAAATGAAGAGGAATGCCACTCAAATTAGGTGCCATTTTTGCAAGTTTTGATGGCAGTTTATATGGCCACTAGAATGGCCATTAAAGCACATTGCAAATTATATCACTGTATATAATGCTCCATAAAATAAATTTCTATGGATTAAGTCCAAAATTTCAGTCATTTGCTTGCAAAAATGGTCACTCCATTTAAGATACCATACAAATTATGTTCAGGCATTAGGAGCAAGTGGTTATAGCAGCCGTGTCATTAAGCCCATCCATAACTTTATAACTCAGTTTACATGCTGCATAACACCTTGTTTATAAATTAGTTTCCTGGCAAGAATTTGTAGACTTCAGGATGACCTTAAAATTTATATACTGATTAGGAAATAATTACATACCATATGTTGCAGGGAACATGAAAATGAAAGAAATCACACATAAGCTTAGGTTAGGACAAGTTCTAGAATATTTGATACTGTTCTTTTTGTTCACATCAACATAGCTAAGGAGTTGATCCTTCACCTTAAAAGCAGGAATGACTCTTTTGATACCCTACATACCTCCTTTCCAATCCAGTCATTTAAGAATATCAGGAATAAGGGATTGGAATTGGTTGGCTCATGCTTGACAGAAAAGTTGAGAAAAATAATTGCTAGAAGCTAAATGTAATACTTTCTTCTCCAGAGCCCCTTGACTCTAAAAAGTTTGAATACCAATAAAGCAAATTAAAAGGTGTAAATTATTCCTATAGTTCAATGTTTATGTAACTAAATTTCTTAATATTATTCTTTATAGTATTTTGTATATATCTAAACTTAAAAGGCCTGAGAATACCAAGAAATAGAGGAATATTCATCTATATTAATTCTTTTGTGTTCTACTTTCCTTTTTACTTTCAAATCTTTAATTAACCTGGGATTCATGTTGAAAATTATGAAGGTTAATTTTATGTGTCAACCTGACTGACCATAAAGTGCCCAAATACTTGGTCAAAGATTATCTTAGGTATGTATGTGAGGGTGTTTTGGATGAGATTAACATTTGAATCTGTAGACTGAGTAAAACAGGCTGTCCTTCCTAATGTGAGTAGGTCTCATCCCATCAGTGGAGGGCCTGAATAGAACAAAAAGTCTGAACCTCCCTTACATGAGAGGGAATTTCCTCTTACTTGATTGCCTTATGGCTGGGACATTGGTTTATCCTGCCTTTGGACTCCAGCTGAAACATCAGCTTTTCCTGGGTCCACTGACCTTGGGACTGAAACTGCACCATTGGCTCTCATAGGTCTTCAGCTTGCCAACTGCAGATCTTGGGACTTGTTAGCCTCCACAATTGTGTGAGCCAATTCCTTATCATCTCTCTCTCTCATGCTGTGTGTGTGTGTATAATAATTAATAGATATCTAATTGTGCACCCTACCCCATGATTTAGTCAATTGTTTCAACATTATGAAAATCTATTTTTTTGAGACAGTGTCTCACTCTGCCACCCAGGCTAGAGTGCAGTAGCACGATCTTGGCTCACTGCAACCTCTGCCTCGCAGGTTCAAACAATTCTCGTGCTTCAGCCTCCTGAGTGGTTGGGATTACAGGTGCATGCCACCACTCCCAGCTAATTTTTGTAATTTTAGTAGAGATAGGGTTTCACCATGTTGGCCATGGTTAATCTCCAACTCCTGACCTCAGGTGATCTGCCTGCCTTAGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACCATACCCAGCCTAAAATCCTCTTTCAATATTGACTAAATACTCACATGTGTTTTGACTTGATTCACAGATTCATATTCTCTTCTATTAATATGTGACTATCTATAACTTTATCAGTAATACATTATTTAATTATGGTCATTTGATAGATGTTTAATATCTAGTAGTGCTTGTCCAAATCAATTTGAATATGTTTATGCTACTACAATGAAATAAAGATGGGGACTGGGCTGAAGTTAGACAAATAGTATGCTTTTCAACCTGAAAGGCAAAGACAAAGAGACAGCTTTTCGATCTTTTCCTTTCTTTTTTCTCTTCTTCCTGCCTACCTACTTGTTTGCCTTGACTACAACAACACTCCCCCAACTAACTGCTTAGACATTTATGCTCCTGGAAGCCCTGTTGGAAAACCATCTTCTTAGACTTTTATCTGCCATCCCAAGGTATGTTTTTATTCTTTGTGTTTTCACAAATCTTGGCAACAATTTAAATGGCATTGTTAATATCACAATTTACCTAATGCATTTTCAATGTCCTCTTTAATTCTCCCAAACCAGTGGAAAGGCAAGATGAAAAGAGATTCATAAAATTGCTGTGTATTATGTTACTTCCTAACTGAGTGGTTTATTTGCTTACTAAATGGTCCTACATTTATAGTCAATCGTCACCAACAGATAACACATCAAAAATAAACTTCAATTTCACATTACAGAGGAGGTGATTCCAATTTGAATGTTATTTATCATAGAGAATATGTTACTAAATCCAGTTTATGGAAAGATTATGCCATTTAATTTACTTTTAGAGAGAGGAATATGCTTTCACGAGAAACTGCATTAGCTATTAGAAAAGTAATGTAGCTGTTGGTCTGCACCACTTCCAGCAAGCATGGGTACATTGCGTTGACAAAAACAGCTGGATTTTTTTCTAGTGTGATCTGATAGAAAGAGCACTGGGCTGGTAGTCAGGGTTAGGTCAAGGCAAGGTTCTAACTAGCTGGGTGACTGTAAAGAGATAGTTACACAACCTCTCAGGGCCTCAAGTGTTTTATTTATAATATGAAGTGTCCAGATGAAATCTGGGATACTTATACGACCCTATGATCAAGAGGAGATGCTTTTATTGTCCCAGCTTCTCTAATATCACCAGGGAAAGTGAAAGTGGCTACAGTAAAGTCATTATATAAAGAACAGGAGGAAGTAGAGCTTCCCCCTCGGCCAACTGCAGAGATGTGAGTGTATGTGTGTGTGGTTGGGTGCAGGGAGGGAGACAGTGGTACCAGTTTGAAGACTTACCAGCTGAGACTTCATGATATTTAGAGTAGATGATAACATAGTTAAAGCTCAATTCAGTTTATAGGAATGTTACATTATTCAGTTTACTTTTAGAATGAGAATTATCCTGAAGCTGTAAATTCCTTGGGTGCAGGGACTGTGCTTTGACCACTCTTGAATAGTGACTGTGCATGGCTGAACTTGTGAATTTTGACTGACGACGGCTCACAGATTACCCTGAGCAGTCTCAATTTTAACCGTTTTATCCTATTAACAATTACACAAAATCATATTCGGTCTAAGTAAAAGAGACATGAAGGGAGGCTTTTGCTTTTATGTTTGAACCATTTCCACTGTTCATATCTCCTCAACTTGAATGTATAAACCTTTAATGTCTGGTTGGTGGGATTATGAGCCATTTTAGCTTTTCTCTTTCTGGGGCTCAGAAAATGATACTGCAAAGTATGACACTTTGGCATGCTGAGTACTTTGAACAAAAGGAGATTGGAAGGTCCAGAAGTAGCCTCAGAAACAAAGTCTCTCTCTGACCTTCTCTGGCCCTCCATTTTCCCGTCCCTCCATCTCCCCTAAAGTGAGTCATAGAAACCAGAATTCCTCTCCTCCAAGTTGGGTCACAGATACTAGAACCCCTCTCCCCTAAAGCAAGACATAAAACCTAGCAAGGTCATTCTCTCCCTTCTCCCTTGAAGACCCTCATTCCACAGGGGTTCTGCCCTATACCTAGGAGGGAGGAATGCTATGCAGAGAGACCGAGAAGAATCTGGACATACAAGCCTTGCTGGGTTTCTCAGTCTATTATCATTAGATCAGACCCTTTTGTCAATCACATTGCTACATGGTTGTCCATTCTTCGTTGAAACTAAGCATAAAAGCAGACGGTTTTCTCTAGGTCTTTGGATCTTCATTTCTGAAGGCTCCTGTATCGCACAAAACTTTGATTAAATAAATTTGTTATGTTTCTCTCTTGTTAACCTGTCTTTTATGATAGGAGTGCCAGCTGTGACCCTTATGATGGGCAAGAAAACGTACCACACTTTCTACCCATATACTCTATTTCTTTATATTCAAAATAATAACTATTAATATTATATTATAAAAATTTCATTCTGTTGTCAAATCATGGGTCAACATTAAGTCTTGATTTTAGTTCTGAGAACCTGATTGCCCTTTTAAGTTCGTTACTGAATATAAAGTTCTATGCATTTAAATAAAGGGCACCACTGGAAGCAGCAATTACTGCATACTACATTAAACAGGTTTTGGGAGATTTAGGAGGGACAATGCCGATTACATCTGATTAATTCTGGCCCAGAGGAAAGTTTATGTTTTTATCCAAGAATAATTCAAGACCTCCTTCACACTCATCAATCATGAGCCAAGTATTATATCAGGTGCCAGGTATATAGAAACTAAGATAAATGTAGTCAAGAACTTCATTCTCAGGAAAGTCTGATCCCATTAATTATTCTTTTTCCAAATTGTGGGGAGTCAAAATTTGTGCATCTTCATGTATCTGCCTGCCATTTCAAGCTGGATCAATTTGAAAGTGGGCTTTAAGGAGCTTGTCATACTTTGATTCCCTTTCCCCACCTACAGGCACCCCATTTGGGCCTGCTATCTGAAAAACGACCTATCTCTGAAGGTCTCTTCATTACCGTCTGATATGGTTTGGATCTGTGTCTCCACTCAGATCTCATGTTCAATTGTAATCCTCAATGTTGGAGGTGCAGCCTGGTGGGAGGAGATTGGATTGTGGGAGTGGTTTCTCATGAATGGGTTAGCAACATCTCCTTGATGCTGTCCTCAGGATGGTGAGTGAGTTCTTATGAGTTCTGGTAATTTAAAAGCAAATTTCTTCTGCTAGCTTTGGGGCTGGCTTGCCCTTTTTTTTTTTTTTTGTAGTTCCTGTAAGTGTGATGTTATAATAGTTCAGTAAGTTGAAATCTTTCTGACATTTTGATGCAAGCATTTAGTATTGTAAGCTTTTCTCTTACCACTGCTTCAGCCTTGTTCCAGAGATTCTGATATGTTGTATCTTTGTTTTCATTAGTTTCAAGTAATTTTTTGATTTCTGCCTTAATCTCATTGTTTACCAAAAAGTCGTTCAGAAGTAGATTTTTTTTTTTTTTTTTTTTGAGACAAAGTTCCGCTCTGTCACCCAGCCTGGAATGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCTCTACCACACCAGGTTAATTTTTGTATTTTTAGTAGAGGCGAGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTATGCCCGGCCAGGAGTAGGTTGTTTAATTTCCTTGTAATTGTATGGTTTTGAGCAATCTTCTTATCATTGGTTTCCATTTTTATTGTGCTGTAGTCCAAGACCGTGGTTGGTATGACTTCAGTTTTTATTTTTTTTATTTTTTATTTTTTTAAATTTGAATTTGCCGGGAAGTTCTTTATGGTCTAATGTGCAGTCAATGTTAGAGTATGTGTCATGTGCACATGAGAAGAATGTATATTGTTTTTGTTGGGTGGAGTGTCCTGTAGATGTCTCTTAGGTCCTTTTGGTCAAGTGTTAAGTTTAGGTACAGAATATATTTGTCAGTTTTCTGCCTTGATGATCTGTCTAATACTATCAGTGCGGTGTTAAGTCTCCCACTATTATTGTGGTTATCAATTTACTTCGTAAGTCTCTGAGAACTTGTTTTATGAATTTGGATGCTCTAACACTAGGTGCGTATATATTTAGGATAGCTAGATCTTCTTGTTGAATTGCACCCTTTATCATTATGTAATGTCTTTTTTTTTTTTTATCAGTAAGGAATTTAAGGACAAAAGGGAAACTAGTGGCTATGATCTATGGCAGTTCTGACTCCCTTTAAAAGATTCCTGGAGTGTCACAACTTGGAGATACCTTGGTCTATACCTTTCCTTTTACAGGTGCTAAATCCGAGTCTCATTGTAGTAAAATGACCTGCCCAAAGTTCTTTTTCTCAGGGGAGATCCCCTGCACACTCTGCCTCTCTTGCAGAATTATGCTTCTCTCCTTTGTGCTCCTGCAGCACCTTTTACGCCAAATGCTGGACCTGGGATCCCTCTGTGGCTTAACGTGACACTTAGGTATTTGTGTTACCCACCTAACTATAGACTGTCTGCTCACAGAAACCACATCTGAAAACCTGTGTTTGCCATAGCACATGAATCCCCATATTTCTATAGCCAAGAAAGTTTATTTTATGGTTATTTAGGAAGTCTTTGGAAAGCCTAAAATAATGCTATCTTAATTTAGAGAATTGCTTGGAAAAGTGGCATAGGCAGTTTCTAGGAAGAGAATTGCATGTAACCCTTTATGAGGCAGGTGACTCCAGAAGAAGACATCCGTTACCCTCTATCCTCTGTCCTTGTGCTGTTTTTTCTCAACTTGCAGATTTTCTCCCTCAAGGAACTATTCAGGTAATGATAATGTGAATAATACCTTATAATTGAACAGACATTTTTCATAAAGAGACAAAAAACTTGCAATGGTTATTGAGAATTGGATGAAATAAGTCACCCCATCATGTTTGCTGCTTTACAATTTCAATAGCTCCGAGCAAGCAAAGCTCTTTGTTGAAATATAATACAAATTGCAAACAAGCAGCAGCAGCAGCAGCAGCACAAAAATCCCCCCAATGTCAGAGAGACACTGGCACCGCCAGGAAAAAAAAAGCAGTTTCTCAAGCTATTAATCTAAATGACAACTACAATCTCCCTTGAAAATCCTTACCCAAATAAGGATTGTTTTAATGCTTAAAACATTAAGCAAAGCACTCTTCATATTTATATATGTTCTGAATCCTGTAGGTCTATTCTCAATGGAATTTCCATTAAAATAATAAAATCAGTTTTAAGATTATATATAGCATGTTTATACAATTAGCATTAGTAGTAATAATAATTAACCCTTATTGAGAAATTACCATGTGTCAGGCCCTAACTGACTTAACCATTACAACTCATTACATATGTACTGATGTTATGCCCCATTTCATAGACTTAAGAGATAGATGCAAAAAAAAAGGTAAAGCTTGCCATAACTTGCTAAGGCACATGACTTATATGTGGTAAAGTTAGGAGTTGAATCTAGGCCAGTATTAGACAATCATGTTGTTTTAAATTTTGCAGTATCCACATTAAATGAAAAAGAAATGGGAGGTGATATTAATTGTGATATTTTATTTAAGTCAATATAACCAAAATATTATTAATTTAACATATAAACAATAAAAATTATTAATAAGATATTTTACTTTCCTTTTTTTTTTTTGAGACAGAGTCTCCCTCTGTCACCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACTTCCGTCTCATGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCACGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGCTGGTCTCAAACTCTTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAAGCATGAGCCACTGTGCCCAGCCTTACTTTCCTTTTTTTGTAATGAGTCTTTGAAATCTGGTACATATTTTGCACTTATTGGATATCTCAATGTGGGCACTCAATTATCCTTTGAAATACTTGATATATTTTGATTTTGTAAAATTTATTATTGAAGATGTAGATTCACATACCCCAATTTTTTCAAACATACTTGAATGTTTCTAATAATTGAATTGAGTATCTTTAAAAATTTATGTGTAATTAAATTAAATAAAATTAAAAATTCAGCTCCCCAGTTACACTAGCTATAATTTAAGTCTTCAACAGTCCCATTTGGTAGTGGCTTCCATATTAGACAGCACAGACACAAGTTGTCTTCATCGAGAACCCCTGCTTCTCCAGCCTGGGCAACATAACAAGACTCCATCTCTTCCAAACAATTGAAAAAATTAATTGGGCATGATGGAACACACCTGTTGTCCTATTTACTCAGGAAACTGAGGGAGAAGGATCTCTTAAGCCAAGGAGATTGAGGCTGCAGTGACCTAGGATTGTGCCACTACACTTAGCCTGAGAAACAGAGTGAGAGCTTGTCTCAAAAAAAAGAACACTTGCTCTTATCTAATAAATAAACAGTTAATAAATAGCTATTGAATCAATATTGAACCACTATGCTATGCTGTCTCAAAGAAGACAATGAGAAGGCACCATTTAATTGCATTCAGTGTTCATTTGACATTTATTTGTCAGAACTAATATCAGCTGATATTAATGGTTAAAAGTATAGGTTCTAGAGTCAGACTGGGCTGGGTTCAAGTCTCGGTTTTATTACTTATTAGTTAAGGAGTCTTAGTCAAGATAAAGAAGAAGGCGTATATCTTGCTAACCAAAAGGAACAGTCCAGTGAGCCTCCCAGAAGAAGTTCTGATCCAGGTGACTATTGCACAAAATGTATGAATAAAACCAGAGGATGACTCCTTAAAAATACCATCTCTTTCCTCAAATCTCATGCCCTTAGCATTTGCTACCCTGATGTATATTTATCAGCAGGACTTGCAGGTTCAACACTATCATTGGCAGAATGGTCTTAGAGTAGGCATATAAAACAGAAAAGCAGGCGGACTCTGCTCCTTGCTTAGCTCTGCTATTGAGACATAAACCTGTACAACTTCTGAGTCCTTGACCTACTTTCTCCTTTCTGTCTCTTCCCTGTATGCAGATTGTGTGAGTATGCAAATGACTCTCAGTCCCAATTCTAGCCACAGCCCTTATCAACCCTTCTTATGTAGACTGCCCAGGTCTCAGAGAAAGCCACCATATCCTGTGAGCACCAATAATTTAGGATTGCTGAATTTCTCCTAAAACCTACAGATAGATGGATGGAATAGCAAAGCTCTCATGTGCGTGAATCATATATGGGCTGAACCTATGGGAGGAGACTCACTGGCATATAGACTATCCTAGCAAGTGTGTGCATCAAATACCTCTAAGGATACCAATCTAGAAAAGGAGTTTCCCCTACGGAGAACAAGAACCTGAATGTTCATAGCTCAATGGTATTGGCTTCCACTGATGTAGTGCATGCTGTTTCTTGGATCTCCTCATGTTTGAAGGTAGAATCTTTCGCTTGGTTGCTTGGATCTTGCTTTAATAAGATCCTTATACTAGATCTAGTCCACAGAGACTGCCTAGATAGCCTACAAGAAGAAAGAGAGAAGGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGAGAGAGATTGATTCTGTACCTACCGGATGATAAATGTAACATCATAGGTAGCCGCCTAGAGGTACATTAGTCCTTTATTCAAAGGAATGCATTTTGAGGTAGAGTGTGTGTATGTGTGTGACAAATGTGGCATATGGAAGGTATGATGTCATATTAATAGATAGGTTTAGTCTATATGAGCCTATATAATTGTTTCTCGTATATAATAATCCTATTAGCAATATAAGCAATTTGAAAGGGTACTTCTGATAGGTTTCAAGCCAGTGGAAATAATCTTAAGTGATACACTGTTAGTCTTTGACCCCTCCATACTTTTGGTTGCTTCTCATCAATGCCAAGTAACTTTTGGACTTGAATAAAATGCCATAGTGGGGTCACTGTACACTGACTCTGATATCCTGGGGGCCAGATGATGCAACTCAGAAGCTCTGGCAAGTTAACCCCTCCTGTGGGGAATCTTGATCAAAGGAAAAGAGGAGATGAGAGGAGCTCGGGCAGATAAACTCCCTTCCCTCCTCTCTTTCATGGACCAATACAATGTGTATTTCTTCTCTGCATATCCTGCATGCCAAGAATACATACCTGCAGAGTGGCTGGCTATGTCAGCAGCTTGTTGTAAAGCAGTAGCCAGTGTGGTCACGTGGCACATTGCATTGCTTTGCATCTTTGCTTCCCTCACTTCTGGTTTTCCCTCATCCTCACTGCCTGTGGCTTGGTTCTCCCACATAAAGAGTTATTGCCTTAACCATGCCTCAGGCTCTGTCTTCTAGAGGACCTGAGCTAAGACCTAATATAATGTTCTGCTCCCAGTAAAGGTGGCACTTGGAGTTTTCTCCTCTATACTATGAGCCATTCCAAACATGCCCTCATTTTCTTCACAAGCTTTTGGCAGAGCTTCGGTATACTGTGATCTTAGATCACATAAAAGGGTGGAGATGGGTAACAACCTAGGCTGTTTTGTGGGAACCTGCAGTGGCTATGGGGAGAGAGAGGACATTCTGATTTTTCTGTTCATTCATTCCATTTGGCTTCAATATAATCTGGCTGCAACGACATTAGGGAAAAGCAAGATGGAAAGGAACATCCATAACGAGGTACAAAGTATATGAGGCACACTGTGTCCCTAAGTAACCTCACACCACACTTCAGAGCTGCTAGGTCCAGCTTTTTCTAATAAAAGTGGAAAGAGAATACCCAAAGCCATATTTCTGTGCTCTGTTATGAAAGCTCCCCTAGAGGTGTCACAATCAGACTGTGATTGTCTTAACCACTGTGAGTGACCTTAATCACTATGAATGACCACTATGAGTGACCTATGATTGTCTTAACCACTACGAGTTTTCATGGTCCAGGCACTTTTAACATATATTGCCACATTTATTCTTCATAACAATACTACAAGGTAGACCCTAGCATTGTTCTATTTTCCAGAGAAGGTAATAAAGTCAGAGTGCGCTTAGGTAACTTACCTACATTTATTCAGCTAGCACAACTGATATAGCCAGGATTCGAACCTAGGTCTTCAGATTAACAGGGTGGGAGTGGATAACCACCAGGCTGTGTCCTCTATATTATATTGCTATGAAAGTGTTGTTCCCAAAATGGTGCAGCTGCTTTGTGTTTCTCTAACTTATGTAAACTGATGTTCTCTTTCTCTGAAACACTTCTTTTTGAAGACCTGGCACAGTCAACACCTGCTCTGGGAAGGCTGATGCACCTCCCAGTGTCTGGCCTTTGCCCCATTGTATGAACCCCCTCTCCCCACAATCCCCTGAGTATCACCAACTCCAGTCTGTGTGTAAAGAAATATTTATATAGATGGTTTGGGACCATAAAGGAATTTGTGCACTTGTAGAGGTGGCAAAAGGTATTGCAGCATAGCCAGAAACGAATATTAGCTACAACTGTCCTTAAAAGTGTCTTGGCCATTCCTGATCTTATGCTCCCTTTGCACACAGCTCAGGCAATACTCTATGGTATTTCTCAACTCCAGCAACCACCCAGTAAATAGTGTTTCTTTCTTCCACGTGGAAATGTCATATGGAAGCTCAAAATTTGTCCTTCTTCATTGTGCAAAGCATTGTGGTTCTTGTGGCTAACACGAGGCCCACATCAGGACTATTTTCCTTCAACCAAAATGGCCCAACATACTGTATTTTTCTAAATAAAGTTCATTTGCTTTTCCTTTAAAAGGAAATCTGTTTTTGGTTTTTAAAGCAACTTTTATTTTTCTCCATGCTACGGATGAATGAATGAAAGCATACGTGAATGATCAAATGTGTAACAAGGTAGATATTATTACTTATTGAAAATTCTCCACGAGGATTTCTGGTAGAAAAGTGGTCAGCTTGAGAGAACTAGACTGCTGAGGCTGTTCAGAGGTCTTCTGTCTGTGAGGAGTCAGTGGGGACCGGGCTTGGAGCTTCCAGAGGGACCCAGCATGGCTGGTGAGTAAGAGCAGAATTGCAAGGGGCCACTTCCAGTAGGAAAGTGGCTATAGACTAGGGAAGGTGGAAAAACGATACCTGCTGTGCAGAGTGTGAGAAATGAGGAAGAGGAAAGTTAGGGAGAAAACTGGAGTGTGAGAGAATTGGTTAGAAGGGGAAAGAGCTTTATATTTTAGTAGTGTCTCCATGAGTCATAAATTAGATTTCCTTTAATATTATTTAAGTGAACAGAGGCTGGAATTTTATTTAATTTCTTTATTTGCTAGAGTGTGTATGCATGTGTTTTAAGGAAACACAGGCTTGAAACTGAATCCTGTTGGGCTAAATGATTTATTTCATTTACAAAGGAAATGGTAGCCAGGAAAACTGGGTATATCATATATACATCTTATAATTTTGTGCAAATTGCATTACTTCTCATCACATCTGTAAAATGTGTCTGGTGCCTACTTTACAGAATTACATGAGGATTAAATGGACCACTCTGCAAAGTACAGATTATCAAAATAGTCCGACACTGGTATACTTGGGAAAAAACTCTCTCTCAGACTGTGCAGAAGTATTAGGCACTTTAATATGTGTGTATATATTTATATGTATGTATGTGTATATATGTATTTTTGTATGTGTTACAGGTATGTGTGTGTTTAGTGTGTGTGTTTTATGTGTGTATATACACACACACATATATAAACACACACAAAACACACATACACACACACATATATATACATACACTCACACATATATGTAAGGTCCTCTGAGCTGGCCGCACCACAATCAAGCCATCGTGACGTTCCTGCGCCCTTGTGAATGTACTGTGTAACATTCCTCCCCACCCTTGTGACAATACACCCTCCCTGCCCTTGTGAATGTAGTTTGTAACATCCTCCGTGCCCTTGAGAATGTACTTTGTAACATCCATCCCCTGCCCACAAAAAAAATTGCTTCTAACTCCACCGCCTATCCCAAACCTGTAAGAACCAATGATAATCCCACGACCCTTCGATGACTCCTTTCTCGGACTCAGCCCACTTGCACCCAAGTGAATAAACAGCCTTGTTGCTCACACTAAGCCTTCTCAGGTGGTCTCTTATACGTAACAACATATATATATATACACACACACATACATACATATATATGCGTAACAACATATATATATATACACACACGTAACAACATAAATATATACATGCATACACACATATATATATACACACACATATACATGCAGTATATTACTTTCCCAAGCCCAGAAGTTCTGTTCCTTGACCCTGAACTCCGTAAATGTAGCCAACTGATTATGTCAATGCTCTGGGGTGCAGTGTACCATCCCACAGGGCAAATCTCACTCTAATCCAGCTCATAGGGCATGGACATATAAATAAGAACGACAATTAGTTAATTCATAATGCCAGTGGTAGAAAATCCTATCTTACTCTGAGAACAGTATTGTCTTCTGCAGATAAATTAACATGAGAAGTTGATTTATGACGGGATTTATGATGTATTTATTGGGTACAGAGTGTGGCTCAAGTCTTTAATGATGTCAGGCTAAGATGGCTAAATGCTCAGCTCTACCTTAGGGATATACCAGCTGTCAGGACTGAATGGCTGGATTCCTTGGTCCCATTATGGAACAAACACTAACATTTACCCATTGACTTCCATGGTTCCATGCCCCAGAGACAGTAACCCTCTTTTTGATGATCACATACTTTTCTTTTTTTTTTTGAAAAAAAAAATGTATTTCATTTTTAAATGACCTCAATTACACGCTAATAGAATGTGTGTATCTGTTGGATACCGTGCACTTTCTCAAACCTCAGAATCAGATTGGACACTGCCACTCTCATTTTCTGTCCCACAGTGATTTTCACAAAGCAATTGTTTTTTATCAGAGCTACTGCATAAAAACCAAGTTTGCAAAGATATGACATCATCAAAAAGAATGTAGCAATGTTTATTGTTGAAAGTGTGGATCTCCAGGAACTAGCAGTTGACATTGTTTCTGACAAATTGCTGGTTTCCTCTAAAATTTAAAATACCCCTCTGCACCCATATGAGTTTGCTGTGCCTTCCCAGGGTTCCATGGCACACACTGTCTGGGAATTGTATCACATTCTTTTTTTGAAATAATGTTGAAATTACTAATTAGGTTTTAGCCAAGTTCTTTTCTCTTCTTCTGAAATTTTGCTTTAAATTGCTTTTATCATATCTCTCTTATCAATTCTGGCATTTCAGGATTTTCTTTACTTCCAAGTTGGGAATAGAGGCATCTACTCTATATTGTCACATAGGTGGAAATGAAAAGGTCATAGAATGGGCTGGACTTAGGAGACCCGAGACCTATAGCCTAGGAACCTACACAGGGATAACAGAGCCATATGCGGTGGTGGTGGTTTGGGCTTGGGGTTAGATATATGATGATTTGTTAAGAGGAGGCAGCTGTTAAAGGTGTGTGATCAATTATTGTTTCATTGATTTCTCATTAATGAGCCTTCACTTTGTTTTTGTTTTGAGACAAAATGAACAGGCACAGAAAAAATAGGTAAGATCTTACATATCCACTTAGTTCATACTGGGGGTCGAATAGGGCAAGGATATTGCAGACAGTTCAAACTTAGTTGATCAAGGAGGACTAATGGGCAGCCCTTTCTCAAGTTTGAGAGATGAAGAAGGAATTTGTGGGCTTCATTCCTTAACTTCCTTCCCCTATTCTATCGGCAGAGACTGACAACTCGGCATATACAAATAGTCTTCACTTAATGTCATTGATAGGTTCTTGGAAGCTACGATTGTAAGTGAAACGATGTAAAAGGAAATCAACTTAACATAGGCTAATTGAAATAAACTAGAGTTAATTTCCTACAGCATATTTCTGGTCACAAAATCATCACCCAACCTTCAAAATAAAGACCAAAACACTTCCAATATTAAACAATGAAATAAATGTGAGCTACACTTTTAAGAAAGATTAATACAAACAAGTCAGATAATTACTTGCCCAACTGTTCCAGTTCAAGATTGTAGGTGGTGACCTACTGTGGAGCCTGTCCTGGAGGTTCAGGTAAGAACCAGTCCCGAACAGGATGCCATCTCATCGCAGAGAACCCTCACACACACCCACACCACTCATACTGGGACAATTCAGACATGCCAATGGGATGCCAGTGGCACGGCTTTGGGATGTGGGAGGAAACCAATGCAGACATGAAGAGAACACGCAAACTTCACACAGAAAATGGCCATGGCTGGGGAATTGATTTTTTTTTCTCATCGAGGTTATAGCAAAACATCATTGAACAGAACAATCTTATATACCTGATGTATAAGTGCTTTTGTTTATCCACATTTTTTGCACTAATTTTCTCTATTGGATCACTCCCATCAGCAGGCAAACATTCCAGTTTTCTATTTTAAAATTAACTTCTCTTATGAGTCCACTTTTTCCTTTAGTTATGGAACCAACCCAAATGCCCATCAATGATAGACCGGATAAAGAAAATGTGGCACAGATACACCATGGAATACTATGCAGCCGTAAATAGGAATGAGTTCATGTCCTTTGCAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAGGAACAGAAAACCAAACACTGCATGTTCTCACTCATAAGTGGGAGTTGAACAGTGAGAACACATGGACACAGGGAGGGGAATATCACACACCGGGGCCTGTTGCAGGGTGAGGGACAAGGGGAGGGATAGCATCAGGATAAATAGCTAATAATGTGGGGCTTAAAACCTAGATGACGGGTTGATAGGTGCAGAAACCATCATGGCACCTGTATACCTATGTAACAAACCTGCACATTCTGCATATGTATCCCAGAACTTAAAGTAAAAAAAAATTCCCAAACTTTTCACAATAATCATCTTGACCTTTCCCTGAATAACCATCATACCACCAATCCAATGTGAATTACATCTTTTCTTAATCTCTCAGTGTCATTTGGTCCAGTTGATCACTCCATCCTTGAAATGCTTTCGTAACTTAGTTGCTCTTGGTCTACCTTGTCTACCTTCTCCCTCAGCAGCCACTTCTGGATCCAGATTCAGTCTGTTCCCAAGGAGACCATGGTTGGGGCAATAAAATCTAAGGACTTATGGAAATAAAGAAGAAAATTTAAAGAGCCAGGTTTCTCATGTGCTTTGTTTTCTTATTTCTCCAAATTAAATATAAGTTCCAGTCATGCAGGGACCTTGGTTTACTTGTTCTTCTCAAGTTACTCCACCCCCTAAGGACTGTGCTCAGCACACTCTAGGCATTTGAGAAATATGGTTGAGTTAATGAATGTGCAGCTCTCCCAAGAAATTACTTTCTGTCTTTGACTCAAAAGACCAGAAGAGTTTCTTCACCAAAAGTCCCTTGGAATCTTTTATCACTCTTCCTTTGGCATATTCATTTGCTGGTCTGGAGATGCTGCTGATCTTGGTTCCTTTTGTCTTTCCGTGACTGCTACTGGATTACAATGTAATGCTTTTGGCCAGATGTGCATTTTAAGCAGCCCCAGTAATACATATTTGATGTTGGATTAAGTTGTTCTGACTTGTAGTCATAGTGGCAGGAGCTTTTCTGCTGTTGCCTGCCTTCTGAATATGAATAAAGTGTCTGCACTTTTATTAACTTATAGCAGAGTTATGTTTAACCACAAGAGGAAAGGAACACACCAATTATTCTCTTGTGCAACATTAAGGAAGCATGAATAGAAAACAGCTTTGTGGCATGAGTGACCTGAATCCCTGAATCGGTCTCTGCACACAATGTTTGAAAGAAAGTCATAACTATGTATTCATTAGAGGGACTATAAAATAGCAGAGTGTTAAATTTGTGACCAAAAGTCTTTGTTACCAGTGATGTGGGGTTTATTATCTATCATAGCTAGTCTTATTAATTGGGAAGCTCTTTGCAGAAAAAGAAATGGATTCCATTTCTAAAACTTGCAATTATGAATTCCGTTAATGCTTTCAGCCATCCAGATATTTATTTATACATGTCACTCAATGGGGCAATTTGCAATTCTGGGTAGATTTTGTGACTTAAAGCAGAGTGCTTGTTCTCTACAGTTCAGTAATTCTCCACTTCTCAAAATGGGACAACCACAGGTTTATCCATCTGCTTTTTGTTAAATGAGTCCGAGATGAGGAGACAAATGCTGTATGCTTTTGATAAGACAGGCATGATTCCATTAAAAATAATCTTTTGAACTCCTATTGAGTGGAAGACACCTGAAATAGAGCTTTTAGGGGAAGGGGAGGAGGATGAGTAAGGTAATTCTTGCTATCAAAGTTTGGAGTGACCACAATGATGTAGATAGTAAGTTCTTTGGGGGAATTCTTGAACTGATTTCATGAAGTAAGATTTGTGAACCGATGGCATAGGTCTGGAGTAGACTCTAAGGCCTTCCCCGCCGTACCACTCTCTCAGGGTCTGGTTTTGTGGATGGCCCACTCACTGTGCAAAGCTGCATCTGCTGCAGCAGTTCTGGTGCCACATAACATAACCCAAGGACAACCCAAGGGATTGTGTCCTCAGCCCTTTCTGTTCTACTGACTAATCTTTAGCATATTGTAGACCTTTTAACAAAAATTGCTATTCATAACATATGTTTAGTTTATAAATTTCTTTAATAGAACATTTTAACATTGTTTGAATGGCCACAGGGTCTCATATTACATACTTTTGTTTCATTTCATTTTTCCTTTTATTTTCCCCCGAAAAGGAACAGAACATTGAAGTCTACTTAGAGCCAAAGATTTGGTCCTGGGCATTGTGGTTGCAGATACTACCTTTATCAAATGGCTCCCTGACATTGGCCTCCCACTTTTAGACTTGTATGAAATAACAAACTCTCCAAATTATTTGAAAATAGCCACAATTTCTTTTACAGACGTTTATTGGCAATTGGGCTCTCTCCGTGAAAAGGGAATATTGAGAAATGAACTTCAATGCTTCATTTTATTGTTTACTTCAAGGTAAATAACTCCATTTGGAAATTACAATGGTACAAATATAGTGAAGTTAAGCTATGGGTCTTACTCTGACCAGGGTTATGTTGACAAAAAATTATGCTTTTAAAAGCATTGCTGTTGAAAAGAAGGCCATAGTAGCAGAGGAGTCTGCTTTTATATAAAGAAGAGAACATTAGATTTGCAGTCAGATGACCTAACATCTTTGTTCGGGACCTTCAATTAGTAACTTATTTTTTCCAAGTTTCATTTTCCAGTGTACAGGATTGGTGCGAAATAAAATTTAAAAAGTATTTGAACATATTCTGTGAAGTTCTATGCCAGTATGGAGTTATACATGGGCTATCTTAATTGGTTTAAATATATCTCTCTAATATATGGCTTCAAAAACTTCAGCCAACTGAGATTGATTTCATATGATTTTTTAAACATATAATTTTATTGAGGTGTAGTTAACATACAGTAAACCATACATATTTGCTGTAAAGTATACAATTTGCTAACTTTTGAGACATAGACACATCCATTAAATCATTGCACCATCACTACACATCCGTTATCCCCAAAGTTTCCCATGCCCATTTATAGCAGGGATCTCCTTTTTAGCACCTCCCTCATATTCTTAGATTTGGAAAGTTTGTATTGTATGCTGGTTCCAGCACCTTTGATTTTCTAAATTATGTTACTTTGTCCTGTGTTTTTTAATTTGCCACAGATCAAATAATGACACTGTTATTCATAATGTCATAATAATTTGTCTCTCTCTGCCATAGAAGTTCCAGACAATGAGTTTTATCCTTTTCAGTGTTGACAGGGGTCCTATGGTAATTATGCAGGTGACTTCTCTCAAAGGACATTTAATAGAAAACGGGATGATGCTGAGCATGTGAAGATAGAATTGACAGAGACCTTAGTACATCCTCTCATGTTTTACTCTCTAGATGTAAAGATGCTTCTTTATGTTAGAAGCAAAGAATGATGGTTGATTATAATTTCTAAAATCACCCTGCTAATTTTAAGAGGGAATAATAACCACTAACTGGAAAAGCCTTATTTTTTTTTTTATTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCCACTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCCACCATGCCCGGCTAATTTTTGTATCTTTTTTAGTAGAGAAGGGGTTTCACCATATTGGCCAGGCTTGTCTAGAACTCCTGATCTCGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCTACCGTGCCCAGCCTTATCTTTAAAAAAATGTCAATTTGAGCATTATGAAGGGAAATACAAATTCAGCAATAAGATCATATTTATTAAGTTATGAACCCTAATGTTTTATGGGAGTTTCCTTAATTCATAGGCTACTTATGTTAGAGTAGTCAAAAACCTGGGCTTTGGAATCGCATAGATCTGAGTCTTACTAGTGCTAGTGCAAGCCTGGGCCAGTGACTTAATTTTTGTGAGCCTTGATCTGTTCACCTGTAAGATGAGGATACTAACAGCACCTATGTCATAGAACTGTTGCAAAAATTAAATTGGTTGATGTGTGCAGGCCTAGCTCAGGACGCAGAGCAATCATTTCATACATGTTATGAAGATGAAGATGATTATCTCACTGTAAAATGTATATCAGCATACAGCAAATATATACGAGATTTTAGTCTAAAGGACTTTCATTAATTAATCAAATATTTATTGGTACCTACTATGTCCCAGTTCCTTTCTAGTCATGGATGACTAAAAGCACTCAGATTCTTTCATCTCAGGGCTATGCTCTGGTGCTACAAAGGCCTCAGAATTTGTCCTCGTTCCCTATAAGACCATAAGTGGTTTCCCATGGGGAACTTTTTGGGCAGTGTATAGATAGCTCAGAGGAAACTGAGAGTCTTCATGCTTTAGCCTGAATTTGTTTTATCTATCATCCCTTTCCCTGTGTAGTCTATGTATTATTTATTCCAAATAGGAATTTCATCAATACCAATCACATTTAGAGGCAATTTTCACACCTAAGCTGGGCCATTCTGTATGAATGAAGGAATGCAATTAAAAGTCCAGAGCCAAAACTCACCTAAAATAGCTGTTGAAGTAGTGTAAAGTGTTGTAAATCTTTCAAGCCCCTGCTCCTGGATGGTTTGGGGGACACAGGGAGGAAGAACCAACTGAGCACTTGATCTGATCTTTGGAGAGAAGACAATTATTGCTTATGGTTAAAAGAGATGATATGAGTGTGAAAAGGGACCCCAAAAACCACACCCACACATTGGATGGACAATTTTAGTCTTATCCTACATCTTCAAGGTCAGGCTGCCCCAGAGCCTGGGTTTTTGGAGGACATTTGTGGCTCATGTGTACTGAACCCCAAGCAATTGAATAATAATGATCTCACAACCCCCAAGCAAGGCACTTAAAAATTATTATTTACTTATTTTTAGAGAAAAGGTTTTGTTCTGCTGTCCAGGCTGGAGTGCAATGGTGCGATCATAGCTCACTGATCAAACTCCTGGGCTCAAGTAGTACTCTTTGCTCAGCCTCCCAAGCAGCTGGGACTACAAGTGCATGCCACCATGCCCTGCTATAAGTTTTTAGTCCTGAGGTAGCAGCTCTTAAGCTTAGCTGCTGCAGATTAGAAAGCTGAAAATAACCAGAGAGGAAGAGTGTTTGAGTCTAGACTGTGTTTTCTTCTCAGCCTCTAGTTAGAGATGTCTTTCCTTCCCTTTCCTCATTCCCTGCTAAGCAGGAGACTTTCAGTGGGATTCAGAGATTCATTCAGCTAAAATAACTGACAAGTATTTACTGGCCACCTAACAGAGTTTGGGCTCCAGAGATACAGTCATAGGAAAAAACAGAGCTGGCAATGTAGAGTGAGGAGACATCTGTGAAACTACAGATCTAAGTTTCAGATTATATCAATGCTTTAAAAGAAAGGCAGACGTCTTCAAAGAACACACAATAAAGGAAGCTAAACTTAGCCAAGGATCAGAGGAGGCTTCCAGGAGGAAATGACATGTGAACTGATATATAAAGAATAAATAATAATAGCTGACATTTATTCAGGTTTACTATGTGTCCAATATCATTCTAAGTGGTTTATAGGTATTGCCATGTAATCCTCACACAGCATCTTGAGGTGATACACATATGTACATCATGTGTGCATGGGTATGTGTATGTATATACGTTTACATGTGTGTGTGTATAAATGAATAGATAGATGACCTCTCCAAACCCCCAGGTCTGGTCCTCGACTCTGAAGGTGTAGCCAATCAACTATGTCCATGCTCTCAGCTGGGTGGGTCCCATCCCTCAGGGAAAATCTGGTAGTTCTAGTTAGGAGTTCCACATTTTGTACTTTCTGTGCTGTGAGTCTTTGCGCAATTGGAATTAGAAACAGAGATGATAAGAGTAACAGTGGAAAACAGAAATTACCTTTTCAGCTCTGTTTATTTCAGGCTAGAAGCAACCAGAGACTCTTTACAATTTGAGTATTAAGAATCTCAGCAAACAGCCACATTAATGTAAGAAATAGACAAAAAAAACTTGAATCAAGACCTAAAACCAGTATGGCAAAGAGATTCTGGAATAATACCAGGATGAAGACATTACCAAGACATTCCTAGCTAAGGCAACTCCCAGTACTCAAGTGAGGGGAAACTGGTGGTTAAAACTAGGCCTAGACCCTGGTGCTAATTTTCTACCCAAACCTTTAACTTGACATATAGACAGATGTATGACCTAGTGACGTTTAGTAAATGGCCTCAAGTTTATTTTTTAGATGGGATTAATTCCTCTCAATCAATCTTTTCAGCAGCGTGAGTGAGGCCTGAGAGGCACACACAGTCATTAGGACTGTGACCACCCCACCAGATGCTCCAGCAGGCAGCCTGGAAGATACCACCCGTCATGCGCTCACATGTGTCCTTTTCAGCACGAGTAGCACAGTACTGAGCACTAAGCATTTGGTGGTTCTTTATATTTAGACCACCAAATCGTGGGAAATGACTGTAACACGGAAAGAGCCTTTCTAATGGCATTGCACCATACAAATGTTCAGTGTGATTATTATAATCTCCACCAACAGAGTTGCTGTGTAATGCTGAAATGATTGTAGAACATTCCTATAGAAAAACCCTCTTACCTCGGAGCCTCTTTTCACCCCTCCTCCATCCCTGGCAGGCTATTTATGTGGTAATGTTATCTTTTGAAACTCTAATGCGCAGCAGTCCAGGTCGATCAAGCCACCTTTTAGCTTTTGCCGATTTGCTTTGAAGTTGACACCAAGGTCAGATGTTATTGTTATTGCACAGACTCAACACCAGGGGGTGATCACAGCACATCACACTAATTACCACTGCCAGACAAAGCTGAGTGCTAATCTCAGGCAGTGCACCCAGAGCAAGAAGCACGGAAGGAGCTGGGCTCACAGAAACTCTGGTCAGTAGAAGGCACAACATGCAAAGAGGCTTTTTAGTGGCACCACATGGTACAAACGTTCACTACGATTATTATAACCTCAGTGGAGCTGCTGTTTAATGCAAAAGGAGAGAACATGCCATCTCATGACTAAACAATTGCATAGGAAGCAGAATGCAGACAGTTGTCCTGCCTGTTGCCCCACAGTGCTGGGTGATTTAAAGGTGCCATTGAAACCCGATGGATGTTCCTGTCTTGGTAGCATGCAGCCTCACACACCAACTCTGTGCTCAACTAATGTATAAATCCCTACAGCTCCTCAAGTGCCAAGAATTCTTCAGGCCAGTGGTATTTGTAACTATTGTGACTCTCCAATTCTTGGAAATACTCTCATGGCAAAGCACCTCTTAAAAGAAATGTGAGAGGAGGAAATTCAGTTCAATTCTCCAGAAACTGCTCAGTGGCTGCATGAAGCACTGTTTGTGATTGCTTTTTAATGTTCAAGATGCAAGTGGCTGCTCCTTTGGGGCTGTATTTTTCCATTAGAAAACACTAATCTCCCTCCTCCTACTCCTCTGAGAGTCTAAAACAAATGTGTTTTAGCTCGTTTTCTGTTTCTCCTTCATCTGCAAACCATTGAGAACGTCACATGTTCTAGGATCCTATGATAGTGTTAGAGGCAAAGATATATGGCTCAATATTTTCAGTGAAAGTTCATGAAAGTTGATTTCTTTTTATATTAGGTTAAAGAAGCCCTAAATAAAGCATACATATGTCTCGAAAAGCACTTCATTAAGGGGGCTACTGGGATGGAAATGAACCATACATTCCTTTTTTTTTCTTTTTTATTTAAACTTTTTGTTCAATTTTGATACATATTGAAATGTGTACAAATCATGAGTGTACATCTCTGAAATTTCATAAAGTGAACACACCCATATAACCACCACCTACATTAAGAAACAGACCAGCACCCCAGCAGTCTTGGGCTGCAGTGTAAATTTACAATTCACTTATTATTTATGGGAAAATGTTGCATTCTTCAGTCTATATCATACTATGATTTGAACACATTTCCTTAGTACAGTCATATGTTATTTCTAGAGGTGTGGGACTGTGAACAAGAGTATCAGCATCACTGGAGACTCCATCAAAACTGTGAATTCTCGGATCTCACCCCTAACCTACTGAATCACAAATTCTGGTGGCAGGGCTCAGCTATTGGTGTTTTCACAAGGCTTTCTGGTGACTCAGATATACACTAGAGCTTTAGAAACTTTTTTCTTAGTGTCCACTGTTTAGCCTCAAAATTGCAACTGTGTTCTATGTTTCCTGGGTTGTAACATGTTACATTAGAATAGCGGTGATAAGACCTAATTGCTTATTTCCTTTATCCCTAACCTTTAAAATATACGTATCAGCTGTATTGAGGTATGATTCACATACAACAAAAGACCATTTTTAACGTGAAATTCAATGGGTTGTGACAAATGTTTACCATTGCTTCCCTTTCTACCCATTTCCATCTCATAGTCTCCCCAAACTTTATCAAAATTGTTGGCCTACTTATGTCTCTTCTATAACCTGCGAGCAGAATTCTCGAGGACAAAACTGCTCTATTCATCATTGAGTTCCTATCCCTTGAATGGACACAAATAAGAGGCTTCACAAATATTTGCTGAACCAATGAGTGAATAAAACTATGTACATAAAAATAACCCATCAAGAAGACTAGCTGGGTTGTAGGATGTGGGAAATAGGTGAGTCTACAAATCCTGCATAAATTTGAGGTCTGAAGTGGAGATAATTAGACGAGTGGTGTAATAACATGCTGACAGCAGTGGATTTTCCTCTCGGACCACCTGCATGTGTGGCAGACACGTTCGCTGCCCTGTCTGCATTCCCTCAGTCCATCCTGGAGGTCACCTCTGGTCAGTTCCCTTTCAGGCTGAAATGTTTCCTGTGTCTTTCTGCTTCAGGGAATTTGATGGACATCTAGTGTCTTAGTCCACAAGTGGGACAGGTCAGAAGCGTGGAAAAGTTAAAACTACAGAAGGAATTCCTGACCAACGAGGGTCGTTTTTGGTGGATAACTGCCTCGCTTCCTCGTCCATGTGGGGGACAGTTCTGAGGTGTGCTCCACACACTTTCTCAGCAGTTCCTACTGGGTTGCAGCCCCAGTTACTTACACATTAAATCCCCTTCTTTGGCTTTCCTTCCTTCCCAGCCTCTCCTCTCTGCTTCTTCATAGTACTGCCTGGGTTCTCCTCCTCAAAAACCTGCTTGTACTCAAATCTTTGATGCAGGGTCTGCTTTTGAGAGAACCTAAACTAAGGATCTGCTTTTGAGAGAATCTAAACCCAAACCCTTAAATTTGCCTCTTTCTCACTTTGTGACCTTGAGTAATTTAGTTCCATTTCTGGCATTGTCTATTTGTTCATTTATAAGATAGGGATAATATTACTTATGTTTTAGGATTGTTGTATAAAATCCTATTCAGTACCTGTAATGTTATAGGTATTTAGGAGTTAACAACTATTTTAGCTATCATACACATCTGACTTCCCTAACTAAGATTTTCCAAAAGAGATGACCCCACGGAGTTAACCCTATAACAGTGCAATTCTTAAAGCATTAGAGGGTTACATGGATGAAAGAACGTCTGAGAGCCAGCTCCTCCACTTTCTCTGATAGTACTCTGGGCTCTGCATGCTCTGAAATTCCTGTTTCCCTTCTGGGAAAATCTGGAATTTCACAGAGACAGAGAAAGTCTTTCACTGTCTTACATGGGCTCTCAGGGAATTAGTTCAACAAATACTTACTGAATGCCATTATAGGGGAAGTGCTGTTTTAAGTAGTAAGAAACAGCAGTGCATAAATCAAGTCCCTGCTTTCAAGGAGCTTATATTCCAGGGGTGAGAATTTGGATCATTAAGAAATAATGAAACAAATATATGATAACGAGAAAAAACCCAGGAAATGCAGAATAAAGAGGATAGTTATGAAGCAAGTATCATTCTAATACCCAAACTAGGAAAGGACATAACCAAAAGAGAAAACTACAGACCAAAATCCCTGATGAGCATAGATGCAAAAATCCTCAACAAAATACTAGCTAACTGAATCCAACGGCATCTCAAAAAGATAATCCACCATGATCAAGTGGGTTTCATGCCAGGCATGCAGGGATGGTTTAACATATGCAAGTCAATAAATGTGATACACCACATAAACAGATTTGAAAACAAAAATCACACAATCATCTCAATAGATGCAGAAAAAGAATTGGCAAAATCCAAATCTCTTTATGAGTAAAACCCTCAGTAAAATCAACATAGAAGGGACACACCTTAAGATAATAAAAGCCATCTATGACAAACTCACATTATACTGAATGGGGAAAAGTTGAAAGCATTCCCCCTGAGAACTGGAACAATATAAGGAGGCCCACTTTTACCACTTCTGTTCAACATAGTACTGGAAGTCCTAGCCAGAGCAATCACACAAGAGAAAGAGGGCATCCAAATCGGTAAAGAGGAAGTCAAACTGTCACTCTTTGCTGATCACATTATCTTATACCTAGAGAACCCTAAAGACTTATCCAAAAAGCTCCTAGAACTGATAAATGAATACAGCAATAAGTTTCAGGATATAAAATCAATGTACACAAATCAGTAGCACTGCCATACGCCAACCCATTTTACAATAGTTGCAAAAAAAATAATAAAATACTTAGGATTATACCTAACCAAAGAGGTGAAAGACCCCTAGAAGGAAAACTACAGAACACTGCTGTAGAAATTATAGATGACACAAACAGATGGAAACACATCCCATGCTCATGGATGGGTAGAATCAATATTGTGAAAATGATCACACTGCCAAAGTCAATCTACAAATTCAATACAATTCCCATCAAAATACTACCATAATTAGTCACAGAACTAGAAAAAACAATTCTAAAATTCATATGAAGCCAAAAAAACACCTGCATAGCAAAAGCAAGACTAAGCAAAAAGAACAAATCTGGAGGGATCACATTACCTGATTTCAAACTATACTATAAGGACATAGTCACCAAAACAGCATGGTACTGACAAAAAAATAGGGACATAGACCAGTGGAATGGCATAGAGAATCTAGAAATAAAGCCAAATAATTACAGCCAACTGATATTCAACAAAGCAAACAAAAAATATGTAGTCGGGAAAGGACACCCTATTGGACAAATGGTGCTGAGATAATTGGCAAGCAACATGTAGGAGAATGAAACTGGATCTTCATCTCTCACCTGATACAAAAATCAACTCAAGATGGTTCAAGGACTTAAATCCCAGACCTGAAACCATAAAAGACATAGAAGATAACATCAGAAAAAACCTCCTAGACATTGGCTTAGGCAAAGAATTCATGATGAAGAACCCAAAAACAAACACAACAAAAACGAAGATAAAAAAATGAGACAATTAAACTAAAAGGCTTCTGCACAGCAAAAGAAACAATTAGCAGAGTGAATGGATAACCCATGGAGTGGGAGAAAATCTATACATCTGACAAAGGACTAATATCTAGAATCTACAAGGAGCTCAAACAAATTAGCAAGAGAAAAACAATCACATCAAAAGAGTGGGCTAAGGACATGAATAGACAATTCTCAAAAGAAGATACACAAATGGCCAACAAACATACAAAAAAATGCACAATGTCACTAATTATCAGGGAAATGCAAATCAAAACCACAATGCGATACCACCTTACTCCTGCAAGATTGGCCATAATAAAAAAGTCAAAAGATAATAGATGTTGGCATGGATGCAGTGAAAAGGGAACACTTTTACACTGCTGGTGGAAATTTAAATGAATACAATCACTATGGAAAACAGTATGGAGATACTTACAGAACTAAAAGTAAAACTACCATTCAATCCAGCAATCCTACTACTGAGTATCTACCAAGAAGAAAAGAAGTCATTATATGAAAAAGACACTTGCACACATGTGTTCATAGCAGCACAATTCACGATTGCAAAAATATGGAACCATCTCAAATGCCCATTAATTAGTGAGTGGAAATAGAAAATATGTGTGTGTGTATGTGTGTAAATATATATATATGGAATACTACCCAGTCATAAAAAGGAACAAAATAATGGCATATGCAGCAACCTGGATGGAACAGGAGACCATTATTCTAAGTGAAGTAACTAGGGAATGGAAAACCAAACATCATATGTACTCGCTTATAAGTGGGAGCTAAGCTATGAGGATGCAAAGGCATAAGAATGATACAATGGACTCTTGGGAGAGGAGTGATAAAAGACTAAACATTGGGTACAGTGTGCACTGCTCAGGTGACAGTAGCACCAAAATCTCAGATATCACCACTAAACAACTTATCCATGTAACCAAAAATCATCTGTTTCCGCAAAACCTATTGAAATAAAAGTAAAATAAAATAAGCAATAATGATAACAATAAAAATAGGGCATGAAGAAATTAATTTACATAGGATATCAGAAAGTGTTCTCTGAAAAGAGTATTTCTGATTGAAGACACAAAGTTAGAAAGGGAACCAGTCATAGGATAGCTTCAGGAAGAGCCAGACAGGCAAGAAGAAAAAGGCAGGGGCACATTTCATGTGTTCCAGGAATATCAAGGAAGTCAGTGAGGGCAGAAGGGAGTAAGCAAAAGAAGAATGGAGTGAGAGGCTTTTCCCATCTCTTAAGGCAGCAAGGACAAGATGGCCTGGGGCTGTGTAGATCACAGGATGGGCTTTGGATTTGATGTAGAGATGGAGAGTCTTGAGCAGAGGAGTAACATGATCTGAATTAGGTTTGAAAAGGATCATTCTGGCTGCTATATGGCGAACAGGCTGAGGAGGCAAGAGCATAAGTTTATAGGCCAGGTGGGAGATCAGAGGAGAGATGACCATGACTTGGCCCAAGTAGCAACAGAGGTGGTTAGAAAATGTTGCATTCTCCCAGAAGGATGTGCTGATGGGTTGGATGTGGGTTACAAGAGAAAGAGAAGACTCAAGGATTATCTAATGCTTTTGGAATACATAACTGAAAGCCTGAAGATGTCCCTTAATGATATGGCAAAGATTAAGAAAGAAAGAGGTTTTAGGGATAATGCCGGTGTTGAGTTTTGGATATGTTAAGTTTGTAATGTCTATTCTTCATCTCAGCAGGCAATCACATAGTGTATTTATTCATTAAGAACATGGATTGTAAAGCCCAAGTGCCTGTTTCAAATCCCAGTTTTATCACTAACTTGTATGACCTTGGGATACTTACTTTACCTGTTTGTTCTCAGTGTAGAATAGGGATAATGGGGTCTGTAGAATAGGGATAATAATCAATCGCAATGAGGATTAAATAAGTTAATGCATGTAAAGTGCTTGGGACTGTGCACTGCACAAAGTAAGCACTACACTAAAACATGTTAAAATATTGAATAGATAGATATACGAGTTCAGAATTCAGAACAGAGGACTGGGCTGTATGTAGCAAGCTGCAGTCATCAGAGCATAGATGCTATTTCAGCCATGGGACTGGATGAGGTCATCTAGGGAGTGAGTGCAGATGGAGAAGGTAAAATCACCAGATATGGAGTCCTGGAGCATTCCAAGGTTTAGAGGTGAAAAAAAGATGAAGGAATTCAAATGTACAAGTTGTTAATTCATTTTTAGAACTTTACATTTCTTGTGAGCTTTCATATTACTACTTGAAAATTCAGCCGAATGATTCACAAAGAGCAGCATTCACTTGAAAATGTGTCTGCAGTGGGGCCTGCAGCAGAACCTATTTTGAAATAACACTTGTCATTCTAGGAAGGCGGCTGGAGTGTCAGAAATGGCCAGCCATGCATTACGCATTTTATTCCCATGAAAAGGAGGGGTAAAGTGGGGAGATGTGATAATTTTTTCAAGGAGAACAGGGTGGCTAAGAAGTGTTAGCCTTCAAAGTATCCTGCTTATGAGACAACATAGGTACTTACATACTTACCACTGATTTCGGTATGTTGCTTTTTCATATATGATTTTATTAACAGTTATTAGAATAACTACAATTAGAAGACCAGTTTCTGTCTTTTATGGGTGACACCTGTTTTTTATTGTGGTAAAAATATATCTATAAAACATAAGATTTGTTATTTTACCATTTTAAAATGTACGATTCAATGGCATTAATTACATCCATGGAGTTGTTCAACTATCACCACTATCTAGCTCCAAAACATTTTCATCACCCCAAACAGAAACTCTGTAATGCATTAAACAATAGCTCACCATTCCCCTCTTACCCTATCCCTTGGTAACTTCTAACCTACTTTCTTTCTTTATGCATTTGCCTGTTCCAGATATTTTATATAAGTGGCAAATACAGTATTTGTCCTTTTTTATCTGGTTTATTTCACTTAGCAAAGTATACTTTCAACGTTCATCCATGTTGTAGCATGTAGTAGAACTATATTCCTTTTTATACCTGAATAATATTCCATTGTATGTACACACACACCACCCAGATTTTGTTTAACTATTCATCTGTTTTCTTTAAATGTTTGGTAGAATTCACTAGTGAAGTTATCAGGGCCTGGAATTTTCTTTGTTGAGAGGTTTTTGATTATTGATATGGAATTTTTCTTCTTTTTTATTGTAGGAATTTGTAGCTATAAATTTCCTCTGAACACTTCTTTTGCTGCATCCCATAAGTTTTGGTATGTTGTGATTTCATTTTCATTCATCTCAAAATATTTTCTAAATTTACTTGTGATTTCTTCTTTGACCCATTGGTTGTTTCTATGTTGTTTAATTTCCACAAGATTGTGAATTTTCCAGCTTTCCTTCTGTTACTGATTTCTAGTTCCATTCCACTGTGGTCAGAGAAGATATTTTGCATAATTTTAATCTTTATAAATTTATTGAGACTTGTTTTGTGGCTTAACATATGGTCTAGTTTGATGACTGTTCCATGTGCACTTGAGAATAATGTGTGTTATGCTATTGTCAGTAGAGTGTTCCATATACAGTCAATCTTCATTATTCATAGATTGCATAATTCCCAATTAGCCCACCCACTAAAAATTGTTTGTAATTCTGAAATCACATAGCTTTTACATTCATTTGAGGACATGTTCGGAGCAGTGAAAAATATGAGTTGTCTGAGACACACATTCTCAACTCAGACTGAACAAGGCGTTGCTCTGCCTTCTTTTTTAAGTTCCCATGCTATGAGCAAGTGTCCTTTTGGTTATCTATGCAGTGCTATGCTTTTCATATTTTTGTTTATTATTAATGTTTTTTCTGTTTAACATGGTTCCTAAGCACACTATTGCAGTGCTGTCTGGTGTTTCTAAGTGCAAGAAGGTTGCGGCATGCCTTACAGATAAAATGTATGTTAGATAGTCGTTATTAAGGAACAAGTTATAGTGCTATTGATTATGAGTTCAATGTTAATAAATAAATAATATATATTGAATAAAGTGTCTTTAAACAGAAATACATATAAAACAAACTTACGTATTGATCAGTTGATGGAAACGTTACCAGAGTAACTCTGCATTTTGCCTAAGAGTAACAATTTAATATTTGCCCTAAAGTTCATGGTGACTTTATAGAACATTACTACCGCAAATAGCATAAATCAATTGTATTTCTATTAGGTTTAGTTTGTGTATATTGTTCAACTCTTTTATTCCCTTATTAATCTCTGTCTACATATTCTATCCATTATTGAAAATGGTATTAAAAACTCCAAATATTATTGTAGAACTGTTTCTCTCTTCAATTCTGCCAATGTTTGCTGCATATATTTTGGGGTTCTGTTGTTTAGTGTATACATGTTTATAATTGTTATATCTTCTTGATGAACTCACCCTTTATCACCATATAATATCTGTCTTTGTCTCTTGTAACAGTTTTTGGCTTAGAATCTATTTTGTTGGATATTACCATAGCCACTCCAATTTTTTTGGTTGTAATTTGCATAAAATATCTTTTTCCATCCTGTACTTTCAAGCTATTTGTCTTTTTGAATCTAACATGAATCTCTTGTAGACAGCATGTAATTTAATCATGGTTTTGGTTTATTTTCTGATCCATTTTCCAATCTCTGCCTTTTTATTTGAAAGTTGAATCTATTTATATTTGAAGTAATTACTGATAAGGAAGGAACTGCTTCTATCATTTTGCTGTTTGTTTTTGTATGCCTCATAGTTTCTGTGGTTGGCATAAATATATTTATCAGCTCAAAAAAAAAAAAAAGAAAAGAAAGGAATAAAAGAGAAACAAAATGAGGCAAAGGCTTACAATTGTTCCAAATAAAAATTGTTATTTTTTTTATCTAACTATCTTTTCTCTAATGAGAAAACCATCTTTAACCTTTAAGTAAAACTAATTTAGTAGGATGCATATTCTGAGTTGAAGACTCATAGGGTTTCAGCACTGTGGCTCACGGCTCCTTAACTTATTGGTCCTAGAAGAAAAAGCTGAGAATGAAAGAGTAATTTTTACCACTGTAATTCAACAACATCCATCCAAGTAATTTTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTCACCCAGGCTAGAGTACAGTGCTGTGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCACCTCAGCCTTGCCAATAGTTGGGACTACAGGCCTGTGCCACCACATCCAGCTAGTTTTTGTATTTTTAGAAGACACACGGTTTCACCATGTTGGCATGTAATTTTCAAATTTCCTATCTTTTAAGAAGAATAAAAAAATTCCTGACGTTTGTGGAGCTTCTAGCAGGCTGTGTGCTAGACCCTTTTACTTTCTCATTTTGATGAGGACTTGAACTAATCAAATAATATCCATTAACTACTGGTCTTGAGGGGCCTTAATACATTTCATTTTCGAATGAAGCCTTCAACCATTGCTCTTCATTTACATCTATAAGCAATCCAGCTTTTTGAAGGTTCAAGGGAGCTTTAATATTTCTGAGCAAGCATCTATCTATATTCCATCTCCAAGATCCTTTTTTCTTAAATCACTCCGCAGTGCTTGAGGATAGGGCAGAAGAGTTCCACTCTCTCCAATGCCTCTTAGAATAAAATAAAGCCAGCACTCAACTTTTTAACTTTATATTCAATTTTCCTAATTATTAAGAATAAAACAAACAAAATAAGCTGAAATGCTTTTATTTTTGATCATAGGCATAAAACCATCCTGGAAAGGAAGAGTGAGTTATTAGCCTTCCTCAGTAGAACAGTGGTTTCCAAATTTTCTTTGAGGATTAAAAACAATAACCATTTTTCTTCAATAAAAAAGCTATAAACAGACTTCCAAAATATAAACACAGAGAGGCAGAACTGCTCAGTTTGAAACTACAGGAAAGGGGAAGATGCGGAGTCTGAAGCTGTGGCCCTGCTCCCAGTCTTCACCCCACAATTCTGTTTACCAAGAGTTCTCAACCTTGGCTATACTATATTAGAATTGCCAGAGGATTTAAAAAACCCTGATACCTGGTTTTCCCCAGACCAACTAAATAAGAATATCTGGGGGATAAAACAGAGGTATCACTATGTTTTGAAATTCTACAGGTGAATCCAAAATTTAAGTGAGGTTGGAACCATTGCAAGAAAGGGAGAGAAACGGTCTATTTTTTATTTGACAGCAGTCATAAGCTTTTCCCCCCATTATCCAAAATACCCAGAAGTGACAGAGCTATCTGGATAGCTGGATTAATATAATTTCTTTCGCTTTGCTGTTGTTTCACACATGACTGGGTTAGAATAGAAAGTGAGCTTTTTTAGGGTATAACAATGTCATCAGATCTTTTACTTTATTGTTTAAAATAAAATAGCCCATATGCTTACAACCAAACAACTTGCTCTTTTGTAATTTGACCCCTGAAGAGAATATTTTTCAGAAGGAATTATGCCAGAGTCAAAAGAAAGAGAAAAATTAAAATCATCCCTACTTTGAAAAGTTAAGTGATTAGAGAAAAATCTATGGAGAATATCTCATTCTTATCATTATGTCTTCTCTCTATTGTATCAGGAGACAATAAAGGGAATTAATTAAGAGGCTCTCTCTAGCATCATTAACAGAGAACTCCTCTTTGTCTGATTATGATTTCAGGAGATCAAAATGTTTCTACCTCTGAAGATTAGAACTATAAGGACCTTTTCCCCCCACTTCACCTCAGGAAGCTCTCTTTGTCCTTACTGAAGGTATTTAAACAGAAACAACTTAATGGATTTGGATATTAAAAAATCAATTGAAGAATCAAAACACTATAAAAATTGCCAATGAAAAAGCTAGTAATAAACATATTTTGGAAAGAAAATTTTAAAATTCATGCAATAAAGGTATGATGAGACCAGGGAGTGAATGAATAAACAATAAAAATAAAGATAGCAATTTCCAAAAGAAACAGGCTTGGGGTTTTCTAATTCTAAGGCTTCTTTCATTTTGCTTTAAATGAATTTAATTCCTACAAGGCAATCCTAGTAAGGAAATCTCTTCTTATCATTTTATGCATGTTGAGAACAAGTAGAGAATGAAGTATGGGCTGTGTGTGTGGATTTTTGTTCTTATTCAGTGAAATCAACTGGCTAATGAATATTTACTCTCAAGTTCCCTCTCATTTCAGGGAGATCCAGCCATGCCCATACTGCAGAGCACACCATAAACTGCAGTGTTGATGAAGGGGGAAGGGGCAGACTCTCCTAGCTGTAATCCCAACACTTTCATATGGAGACTGCCTATGAAAGTCCTTACATCTTCCTGGTTCCCTCATTTCTAGCTTTCAGATGTCACATTGTAAAAATTAAAATTGAATTGACATTATTTAAGCACATTGAAAGTTTTCTAGTATTTGAGATCTTTGCATGAGACTATTGCTTCCCAGAGAGATCTGGAACAACCACATTGGGCAAACGTCTGTCATATCCACAGATCTAGCTTGCACCATTAGGTTTCAGGCACAGAGAAGAAAGAGCATCTTTAACCAAAGCCAAAATTGCAAACTATATCATAAGGAAAGGAAAGGGGAACTAAGTAGAAATGGGAGGGGAAGAGGAAAAGAAATAACAATGGATTGAGCACTTTTTATATCCAAGGTATAATACAAGCCTCTTTATGTGATTATCATCAAATGAAGACAGAGAAGCTCAGATGGGTTAGTTGATTTGCTCAAACCTGCTTTGCTAGAAAGTGGGGAACCTGCAATTTTACCCTGCTTTCTTGGGTTCCAGATCACTTGTCACTCTGCCATTTCACAGAAAAAGTACAAAACAGATTAAACAAATAAGCAATACAAAAGGCAAAGTGCAAGACGTAATACCTATTTGTTCTAACCCTTAAATGTAGCTCTTCTCATTGTCCAGATGGGCTATGATGTAAGGACACTTGCCTCAAATGGTCAAAGCACATTGGCAGACATTTCCATGCATCCCTCCGGCTGCCACAGCCTGCCATGTGGGTGCAGACTCTCTGCCAGTGGAGCCTTCTGCTGTTGACGTTGCCTATGGGCCTCCTCATCTCCCTGAGCCTGGAAACCCAGCTCCATGATGTTGTAAGGGCTGCCCTCTTGCTGATAACTGCCAAATTTCCTTGATGTTCAAGGGCTTGGAAGAGCCCAACATTTGAGTAGCTCAGTGCACAGATGGATTCAGAATTTCAGGGTGCTGGAGCTGAAGATTCAGAAATGTGAGACATTCTAGGGAGATGTTGACTTAGCTCCAAGCATTAGGGCTCCTCAGATTAAAAACATCTAACCCATCTACAATACAAGAATTTTAAAGTGATCTGTGGATTTGAGTTGTTATAAGAACTATTTTGCTTACATTATAAGAACGTTATTCATGACCATTTATTAAAGACTTCTAGTGCTTTTGTATATATAGCTTATCTGTTGTCTTCGTAATGACTCTATCGTAAAATCTTAGCCCCATGTTTAGCTGAAGAAATGAATGCTCAGACAAGGTAGGCCATTTGCCCAAATTCACACAGCAACTAAATTATAGAATGGGAATTCTAACCCAAGTCTGATTCCAGAGTAAGTGTTGTACAATTGCCCCCCTAATAATGGGTAAAGTCAATGTGTGTGGGCTAAGCTGGTAACCTAATAATCACTTAACTTCTATTTTTTAATCTATATTTTTCTAATCACAAATTTAAATTGAGAATTCCAGTTATGTAATTATCTACTAATGAATAATAACTACTTATTACCAAGGCATACTACTAAATATGTTTACTCAAAAGTGCATTTCATTTTGAAAATTTTGTTTTTAATTGACACACAATATTATGCTTATTTATGAGGTACAGTGTGGTATTTTGATACATTCTGTAAAAAATCAAGTCAGGTTATTTAGCATATTCATCACCTCATACATTTGTCTTTCCTTTGTGGTGAGAACATTCAAAATCCTCTCTTTTATGTATTTTGAAACATACAATGCAATATTGTTAACAATAGTCACCCTACTGTTCAAGGGAACATCAGAATTTATTCCTGCTATCTAACTGTAACTTTGTACCTATTGATCAATCTCTCCCTATTCTCCCCTCCTCCCTCCCCTCCCCAGCTTCAGTGACAACTATTATACTATCTGCTTTAATGAGATCAACTTCTTTAGATTCCACATATGAGTGAGATCATGTGGTATTTATCTTTCTGTGCCTGGCTTATTTCACAGAGTGCTGCACACACTGGTTTTTCTCAACATAACATATCTTAAAGCCTTTCCCATATCAGCACATACAGTTCTAGCTCATGTCTTAATGACTATAATTTTTCATTATATGGTTGTATTTAACAGAGCCAATGCTAATGAATGTCTAAGTGGTTACCAGTTTTTTTGTAATTGCAAAAATGGTTTCAGTGAATCTTTTTTGAACATAATTTTGGCATACTATACCAGTACATCTACTGGCTAAATTTTTAGCAGAATTGTGGAGTCAGTGTACAGGCAAAACATTGATAAATGTTGCCTAATTGTGTTTCAAAGGAGTTGAATCTGTTTACCTTACCAGACACAGTGTATGAAGGGGCTCATTTCCCTTTAAACTTGTGAATACTGGGCATTCTCAAATTTTAATTTTTGTGCTAATCTGATAGATAAATTATGAAACCTTTATTTTTGAGATAAAATTCATATAACACAAAATTGACCCTTTAAAAGTATATAATTCTGTGGCTTTTAGTATATTCATGTTGTGCAACCATTACCACAATCTAATTGTAGAATATTTTCATAACACTAGAAAGAAACATCATACTTATTAGCAGTCACTCTCCATTCTCCCCTCCCTCAATCTAGTCCCTGGCTACCACTAATCCACTTTCTGCCTGTATAGATTTGCTTATTCTGAACATGTCACATAAATGGAATTATACAATATGTGAGCTTTTGTGTCTCAGTTCTTTCACTGAACATGTTTTTAAGATTTATCCATGATGTAGCCATGAATTAGTATTTTCTTTTTATGGCTGAATAACATTCTTTGTTTGGATATACTACAATTTGTTTAACTATTAATCAGTTGATGGACATTGAGATTGTTTACACTTTATGACTATTAACAATTTTGTTATGATAATTTATGTACAAATTTTTGCATGAACATAGGTTTCAGTTCTCATTGGATATATACCTAAGAGTGGAATTCCTGGGTCACATGGTATCTCTATGTTTAACATTTTGCAGAACTGCCAAACTGTTTTTCCAAAATGGCTGTATCACTTTACATTCCCCCCAAAATGCACAAGGGTTTTAATTTCTTTAATCCTCACCAATACTTATTATTGTCTATCTTTTTGATTGTAGCCATCTTCGTGGGTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCATCCTAAATTTTAATCCCCATAATCCCCACATGTCGAGGAAGAGACCTGGTGGGAGGTGATTGGATCTTGGGGGTGGTTACCCCCATGCTGTTCGTGTGATAGTGAGTGAGTTCTCATGAGCTCTGATGGTTTTATAAGGGACTTTTCTCCCTTTGCTCTCTCTCACCTGCCGCCATGTAAGATGTGCCTGCTTCCCCTTCTGCCATGATCGTAAGTTTCCTGAGGCCTTTCTAGCCACGTGGAACTGTGAGTCAATTAAATCTCTTTTCTTTATAGATTACCGAGTCTTGGGCAGTTCTTTATAGCAGTGTGAAAACAGACTACATATCTTGAAGGCTTTCCCATATCAGGACATACAGTTCTAGCTCACGTTTTAATGACTATATTTTTTCATTATATGATTGTGTCTAACAGAGTCCATGACGATGAATGACTAAGTGGCTCCCAGTTTTTTTTGTTATTGCAAACAATGGGCTATAAAGTTGTATCTCTAGATGGTTTTGATTTGCATTTCCTTAATAATTATCTTGAGCATCTTTTCATGTGCTTATTGGCCATTTGAACATTTTTTTGTAGAAATATCTATTTAAGTTCTTTGTTCACCTTTATTATTGAATTATTTGTGTTCCAATTGTTGAGTTCTAAGAGTTGTTTCTATATTCTGGATATCATATTCGTATCAGATAAATGATTCGTAAATATTTTCTTCCACTCTAGAGGGTTGTCTTTTTACTTTCCTGAGAGTATGTTTTGTAGCACAACAGTCTTTAATTTTGATGAAGTCCAACTTATCTATTATTTTTCTTTGGTTTCTTGTGCTTTAGGTGTCATATCTAAGAAACCATTGCCTAATATAAATATTTATACCGACATTTTCTTCTAGGAGTTGTATAGTTGTCGCTGTTACATTTAGATCTTTGATTCATTTTGAGTTAATTTTTGTATATGGTGAGAGTTAGGGTCCAAGTTCATTCTTTTGCATGGAGCTGTCCATTTTTCACAACACCACTTACTGAAAAAACTATTCTTTACCCATTGAATTGTCTTGGCACTATTTTTGAAAATTAATTGCTTCCACATTTATTGCTTAATTTCTAGACTTTCAATTATATTCCATTAGTCTATATGTCTATCCTTATACCAGTACCACACAGTCTTGATTATTATTGTTTTGTAGCCAGTTTTGAAATTGGGAAGTGTGGGCTATCCAACTTTGTTCTTTTTCAAGATTTTTGGCTATCTTATGTCACTTGCACTTTCATATGAACTTTAGAGTCAGCTTGTAAATTTCTGCAAAGAAGTCATCTGGGATTTTAATAAATATTACATTGAATTTGAATCTGTACATTGATTTGGGGACTATTGTCATCTTAACAATATTATCTTCTAATCTATGAGCAGGAGATACACTTACATTTATTTAAGTAGTCTTTAATCATTCATAGTTTAATCACTCTTCTACTTCTTTTGATGCATTTATTATTTTCGATGCTACTGTAAGTAGATTTTCTTGATATTTCATTTTCAGAATGATCATTGCTATTGTACAGAAATCCCTGTATCCTGCAACTTTGCTGAACTTGATTACCAGCTTTCCTAATTTTTTTGTGGATTCATTAAGATTTTCTACAAATAAGATTATGGCAAATACAGATAGCTTTGCTTCTTCCTTTCTAATCTGAGTGCTTTTTTGTTGTGGTAAAAAACACATAACATGAGATCTACTCTCTTAACAAATTTTTAAGTGTACAATATACATTGTTAACCATAAACACAATGTTGTACAGCAGATGTCTGAGTCCAGCTAAATAATTGGTATTCCAGAATCCACCAGCAGGTCGCATAATGAAAATTCTCACGAATGAGGCTTTGAAGGTGCTCCAACCTCATTCTGCCCTCTCCACTGACTGCCAGGCTGCCGGTTTTCATCATGATTGTAGGATGTTGGCTTTTAAGCTCCCATGGAGCTGAGAGGGAAAGGTGGAAATATGTTGAGTTTAAATGCCACAAAGCATGCTGTTCTTATTAGTATTCTGCTCTATTTTTTCAATGAAATCTCTCTGGCTTGCAGAAAGCCTTTTGTTAATTTCCAGTGTAGATTCTTAGAATTTTTGTCATGTTTTTCCATTGCTTTTATGGAGGAGAAAAGTTTCAGAGGACCTCACTCGGCCTTTCCCTCCTTCTTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTTTTTGGAGACAGAGTCTCCTTACGTTGCCCAGGCTGGCTTTGAACTGCTTGTGCTCCTGAGTAGCTGGGACTACAGGTATGTGCTATGGTACCCAGTTTTTCACTCTGCCATTTTTATTGATATCATCCCACTAGCTTAACTTCTTTGTAAATACTCATTCTGAGTTCCAAGTAACCATTTTACAAATGTACTTTTGGATATTTTTCTTTGTCTTTTGGAGAGGGCCTAAATTAATCTCTCTCTCACCACTTCCAATAATACAGAGCTAGGCCACAGTCACAGAAGTTACCCCCGCCCCACCCCACCCTATGCTATGTAATTTGAGAGATGTGACAGGTTCTGCCACCTTCAGATCTCTTTCATACCAGCTTACCTCCGTTGAACTTCCTCCCACTAGAATCACTAAATGGTGAAAGCACAAAGATCTGGGCACTATCTGGGCTCCAGTTAAACATTCATGATACCAAGAAGCATTGCTAAAAATACTCCTGCCTTATGAGATGATAGATGCAGGAGGGAATAACACATAGCATGTCCAAGCCTTGGGTAGCCCCAGTGGTGAGGAGACAGAATAGAGGTAGCAGGGTGAGATGGAAAAACAGTGTATTAGTCTTGCAATTAAAAAACCTAATCTCAAATCTACCCCACATGGCTTTGTAATCTTAATTAAATTGCATATCTAATTTAGTTTCAGTTTTTAATTGGTAAAATGAATAAAATAATTCTTACCATGTGGAGTTGTCATGAGGATGAAATACATAAAGTGTTGACTGGTATAATACCTGGCATAGAGGAGATGAATCTAGAGATGCAGATCTGATGAGTTAATAGGTGCATAGTGGGCAGACTGAGGACATGGACGCCTCTGTGACTAAGGAAAGACTGCAGTCCTGGAATGTGAGCTTTCTGTTGGCCAGAACTTTGCCTTCTAGTTCATGGCTGAATCACAGTGTCTAATGCAGGACTGTCACACACAGTAAATGCCTTATAAAATACTTGGCTATTCTTTTTGTTTCTTAAACCTCCAGAAAACAAGATTTCACAACCTCCATCAGTAATCATTTAGGCATTTAATAACCCTGCTGGGGAACATTTCTTGACAGCTTTCTAACTCCCTTTTGTTGCAGCTAGAAACCATTTCAGCTTAACTCAATTCTCAGTGCAGCATTTCAGCTCCTGTTGTACTTGAAAGTAGCACTTCTTCTGTCTTAGCTGTTGTTAATTTTGAGTCCCTTTAATAATTAATATCATATCTTACTCCAGCCAAGCTGAGAGACAGGCTCTTCTGCCTCTCCTCTGGCTTTTTAATTGGCACCTTGTGCACTGCAAACTACAGTGCAAATGAGTTAAATATCATTCTCTGGCTGACATTTTCTTGTTGTCAAAATTCAGCAAGCTCACCCTTAGGAATGTTCCAGTAAGAACTGCAGAAATGGCTCTGACTGAAGGGATGCAAATGTTTCCATGATTTTTTTTCCCCCAAATGTCTTTGCAATTGCACGTTCACATAGCTACCATGCAGACAAGGGTAGGAGACACTGATTTCCCAGTGAAAAGATTGAGGTTTATTATTTGATGTTGTAAATCGTTGAGATTGCACATTTACACATCAGGCCAAGTTCTTGGCTAGCCTTCTCAGAACTGTGGCAAATGATGATAAAAATTAAGTCTGCGAGGATCAGCAGAACATTTATTTAGTATTAACCTGAGTACCTGGTCCAGCCATGCCACCTCCTGGAAGCAGAGTTGGGTGAAGAATGAATGAATGCATTGAGGGAAATCGTAGCAATTGTATGTCAACAACGAAATGCCATAGATGTAACCAAGAAGAATGTAGAGTATTAGAAGTAGAGAAAAAAGGTTTGGAAGCAGAAACCTGAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACGTCTATCCATTACACAAAATTTCATCACCTGTATGCTGAGAGATCTAGGTGGCTGCTCAGAAGATGGTAAACGTTAAAGCTGAGTGCATACTTACATAAAATGTTTACAAATTTGTTTGAATGTAATCTCACCTTTAGTTTTAAAAAATCATAGTTTAGGTGATGGTCTTGATTAAACATGTGTTTTCAAAATAGAAAGATGTAGATTTTTTTCTTGTGGTCTGAGCTAAAAGTAAATAACAACTAGCCACTTAGGCTAATGATTCACATGTAACATAGGACCTGTCTTAAAGAAAGTATCTACAGAATACATATTTTTGATTAAACTGTATATTATGCAGCACATAAATTATTCCTGTGATGATTACCTATACAAAATTGAAAGGAATATGCTCCCACTGATGCCTCCTCCCCAAGAAAAGAACTGAATGAAATGTTTACCCTAAAATTGAAAGAAAAAATTAATTTTCCTATAGGTAAAATATTATAAGTAGAAAAACCTACAGACTTTGTGAGTTAAGGAAAACCTACTTTTACATTCATGTACTCACAGCATATATATTTTCTTAGAAGTCATTCTTGGCATCTGTATCAGTAATTTTGCTGTGAACAACACATGACTCCAAAACCTTTCAGTCCTAAGCATTCTTTTCTCTCATCATAAGTGCCACTGGTTGCAGGTCCATGTGCCTTTGTGTATTGAGGATTGAGACTGAAGGAGCAGTCCCTATTGGAGACATGCTATTTTGTGGCCGATAGCAACAGGGAGAGAGCTTCTAGTGCCTCTTGAACCTTCTGCTCAGAATTGGTGTATGTATGTTACATCCACTTCCATTCCTTTGTCCAAAGGGTGTCATATGTTTAAGTCCAAAGTCAATGAGGCAGCAACATATACCGCTCCCATGTCAGGAATAGTAAGTCTCAGGGCTGGGGGTATGGCTTAGGATTGCCAGATAAAATGCTGGACCTCCAGCTGAATTTGAATTTCAGTAACCAACAAATGAGTTTTTAGTATAAGTATGCCCCAAATATTGCATGGAGCACAAATGTTATTTGTTGTACATCAGAAATATAAGCATCCTGACTTTTTGTTTGCTAAATCTGGTGATCCTAGCAGGGGTGGGTAATCTTCCTAGAGAAAATAGGGTAGTGAATAATTGGGAGCAACAATATATTCTATCATTGCACATTTGCGTTGCTACATTTTTAAAATTACATACTTTGGGGAGTCTGATTGCTTGCTGCTGCTCTCTACACCATGAACTTTCCTCTGTTCTAAACTAATCTAATCTACTGCCACCTGGCTTCACATTTACGCAGAAATTATAATGCCCCCAGGCATCTACTGAAGAACTGAGCTCCCATAGAAGCATTTATACTTATTCCCACCTGAGTCCACAAACACATTAGTCACTGTGGACACCAGGCAGCCCTCATCATATTCTTTTCCTCTTTTCCTGCAACTCCCACTTGCTGATCTACACTGTCCCAGAGCCACCTGAAAACACCTCTCCCCTGCTACTCTGCCAGTGCCTGTCCTGAGAACACCAAGTGCTTGGGTGCTGGGTGGCAGTGCCTCTAATACCACAATGTCTCGGGGCACCAGGCTGGGGCTGGGCGCCAGAGAAAGATGGGAGAGCCATCTTCTCCTAGGGCTCTGTTATTGCCACCAGGCCCAGGGCCAGCTCTAATTATGCCCCCAGTTCCACACAGCCTTTCATGGGAACATATTTGCCAGCTTCTGACCTTCACCCTTCTAACTATATTGGCTCAAACTCAGTCCTAGAAACTTTATGCTTAAGCATCTGCAGTAGAACTGTTGGGAATAAAAAACAACTGGACATTTCATAGGGGCCATTGTCCACTCACATGTGATGCCCTTACTCTGCCTGTTTCCTGCACTGTGGAATGATAATATGCTAACTGCTTCCTCTTCCTTATACACCGTTTGCTTGTGTTTGTCTTTCTCATGCTCTCCTTTACCTCCAGGGGCTTGAAGATATCGATTCCTTTTCCTGGCATGTTTTATTTCACCTCCTACCTTGTGGTAGACTTTGTTGTGTTGGATTCTCCAATATAGATTCTATTTGTTCCTCAGTGAGAAGCAGCAGTGTGATGGGAGAACTGACCTAAGGGTAATTCAATCTATACTGCCTGTGGGTTGGTTTGTATGACACAATTCTGGGAAATGCAATACAGGGGAGGTTTGCCTGAAGCTTCTGGGAAAGGTCTTTCTTGCTGTTAAGAGAGAATGATGGGAAGCTATTATTTCTCTCTCTTCAATTTGAACAAAGAAGCACGTACTAGTAAATGCTCTGGCCACCATCCTACACCTATGAAGGAAGACGGAGATAGGAAGAAACCAATGCCATAGATAGTGAAGCAGAGAAGGCAAAGACCCACGTCTTCAATGACGTCACTTAACCTGCAGCTCATTCAACTCTGAGGCGCACCCTGCCTTCGGATTGACTTTGTGTCATCTAACAAATGTACTTGTTAGAGCCAGTTTGTGTTTTCTATTCCTTACAGCTGAAGGCATCTGACTGCTATATTCCCACCACTGTCTCCTCTTCTGATGACTCTTACTTCTGGATTGTGTTTAGGTGTAATTTTTTTGGGATTGCCTGAGTATGGGTTAGGTACCTTGTACTCTCCTCTCGTAGTCCTTAAGATACTTTGTCATTGCTTATGTAATAGTGTAATTGAACTGCTGGAATATAATTCCCAAAGGGCAGGAGCTATTTGATTCTTTCCACTAGTATATCACTGTCCCAGTGTCAGCCACAGAGTAGGTGCTTAATAAAGTTTTGCTGAGAGAGGCTCCAAGGCCTTGTTGGATGATGTACTGTATCCTCACATATATCCACACAAGCTCTGCTCACCTTCACTGCCTGGTTCCTTCCTCCAGTTGGTTATGACAATGTTTCTTGCCCTTTCAGTTTAATCTATTTTGGTTTCTGGCACCCTCCACTCCATCCATCCAGGTAGTCCTTCTAGGTTCCCAGGCTATGGAACTACTTTCCTTACCTTCTAATCTTCCCTGTAACAGCTGGTCAGCCTGCAGCGCATCCTGCTTTTGGTTCCTTTCCTTCCCTGGCCTGTTTCAGCCTTCAGTGGTTTTCATTTTCCAGCCCCCATATAAGGGCCAAGGCAATTGCTACATTTCATTCTTCTGAAATATTTGCAAAATATGAAATAAACAACAAAATATATGTGGGCGTTTTACTTCTTCCTTTAAACCTAATGGAAGGACAGTAAACTAATGAGGTCAGCAAGGCTCAGATTCCAGGGGCTGGGGAGTTCTTTGAATATTTTATCAAGGAACAGTGGTATTTTTTGTACATGTAGCCCAAATGGCAAAGTTGAAGACATATTTGAAAACACAAAAACAAAAACCGGAAGTTATTCTGGATCTTTCTCTTACATATAAGGAATTAAAAGGTGGCAGCACTGTGACAGACTGTCAGACAAATTTGGTGACACAATGTGAAGAACTGCTCTCCATTTTATATGAGTTCACTCTAGGAGAGGTGAAATAGAGTTATTGGAATGGTATTGTGAGAACAAAGACCCACTGGATTCCACTTCTGCATCTATCTTAGAAGAAAATCATATGTGATAAAAATATTTGTAATACCTGCAAAGTGCAGAGACTTAAGCAGTAAGCAATTTCCAGGGCTTGACTTTCAGGAGGAAAATGAAAGCCTTTTTTTTTAAATTACACATTCACTTAGGTCAATAATAATTCTTATCTTCTGTCCAATGCCTTCTATGTAACAGAGTTTAACCTACAGTATCATATATGTAATTTTTACAGTTTAACTTTATATTAGATAATTCAAATATGCACAAAAGTAGAGAGAGTCTCACAATGAACTTTCACACATCCATCACTTATCATCAACCACTAGCAAAATATGGTCAATCTTGTTTCATGAATATTGCTCTCTTATTTTCCCTTCACATTCTCTTATTTAATTCTCTGTGAGAGTTATTGTCAATGGCCCATTTAGAATGGGAAAATGAGAATCTGAGAGATTGAGTGATGATCCCCATTATAAGGTCAATAAATAGCAAAGCCAAGATACGAGCAAAAGCCTGAATTCCATCAGAGCCTTAGCCTATGCTGCTCATCAGCAGAAGCCCCTAAGATGCACATCAATTATGTGCTGATTTACCAATGTCTCAAATGAACTAAGAAATCAATCGACTAATATTTGTTGAGTCCTTATTTTATACCCACACTGTGCTAGCTACAAAAACATTCTTTTAAAACAGATTTCCAAGAAAGTGGACCCCATGATAGTAGTATTTTTTTAACAGCTTTATGGAAATATAATTTAAGTATCATAACATTCTCCATTGCCAGTATATGAATCAATAAATTTTAATGCATCTACAGGGCTGTACAACTGTCAAAGGCAGTTATTTGTGACTGTTTATATCTGCTTTGTCTCCAGTGCCAAGAAATCGTGCTTGGAATATTATGTGTTCAATAAGTATTTGCTGAATAAATGAATGAAAAATAAGATTTATGCCCTCAAGGAGCTTACTGTATAGTTGGTTAGAAGTGACATATACATATGAACAGTTAGAAAATAAGATAGTTTATAACAACACACTAAATTTATTTATTTACTTATTCATCAGAAGATATTTATTGAATGCCAGGTGTAACTGCTATTAAAAGGTTCATTCACAGATAGTTTATAACAACACACTAAATTTATTTATTTACTTATTCATCAGAAGATATTTATTGAATGCCAGGTGTAACTGCTATTAAAAGGTTCATTCACATCTTGGAATTATCCCAGTAAATTAAAAGTAGCAACTCGTAAGCTTTGTTATTATTGAATACACCTAGTCTTTTGATATCTACGTAAGGAATGCAAGTATTGTTTGACTTTATAAAAATTTCTTGCTTTTGACAGGATGCTACAGATGTGCTTTTGGATGCACATTTGTAGCATCTAGTCTGTAGTCCCCATTCTAAAGTGAAAAGCACTGAGACATTATCTGTATCTTTTCTCAGTGTTGGGCCATGTAGAACAATGCTTCTAGCAACAGGAGTCATTTGAAATGTAGGATCATGAGATAGGAATTCTCAGTCAGACTTAAAGCCAGAGTTGTCAAAATGTAACTTCAGCTTTAAAATAAAAAAGAATTCTTTCTTTTAGTAAATAGAATGTGTAGGCATTAGTTTTCAAACGTTATGATAATAATTTTAAGAAATCTAAGCCTATGTTAGAGTCACTGCTTTCCAAAAATATGAGTTAGTGATTGACAGTGGACTATTGCTTATGGTTTATTGAACTTTGGCATTTGGAAAAGTCTGATCAGTAACAAAACAGAGGTGTTCTAACTTTGTATTTTATCCCTATATTGTGGCATGAATGGCTGTGATACAAAATAGCTTCATCCAAAATAAGTAGAGAGAAAAAAACAGAAAGGAAACTATGTTTTCCTGATTTTATAAGCTTAACATTCATTTAGCCAAGACTTTGGGTGATGATTTGACTTTATGTTAATTGGAGAAAAACTAAGGTTGGCCACATTGTTTGTTCATCTATAAACAAAATGTCTCAGAATAGTCTCCTAATGATCAAAATGTACCTTTCTGTGACCTTTTAAGTGACTCTGTTTACTACAGAAACTATTAGGACTAGCATTTTTAGATCTTTCTGGGTTTCCAAAGAAGTATCAAATGTGTCTCTACGTTGTCTCTTTTCATCTGAGCCCATTAATTTGAATTTTGCAAGATCATATCCAAATCCTATTTGAGTTTTCGCAGTAGACAGAGCCCTGTTTTTAGCAAAGAGCAGAGAAATAAACTTTCACGGAGTTGAAGACTGCACTCTCTATTTGTGTGACAAAGCATGGTGACAGATGCTCTGAAAAGCCATGGTGATGGCAACAAGGAAGCTGTGCTGTGGGTGATTGATTATCTGGGTTCCTGGATTACTGGTCTTGGGAGTAATGCCTACAGCCAGGAAAGGTCAGGTGCCTAGGGAAGTTTTAGATGACACATATTGAAATTCCCAGGCTGTGAACATCCTTTTATTCCTAACTAATTCCCTACTAATTATGTGCACTTATTGAGTTGGTAGAACTTTGGGGACTAGCCATTTTCACCTGTAGCTTCTAACGTCTCACCAGCTAATTGAGAGTGACTGTAGAACATTATAGGACAGAACACTGACTTGGAGTCAGACAGATCTGAATTTGAAATCTAGCTCAGCTCCACAGCTTACCAGCTTGGGCTCTTATGGAAGTTTTTCAATCTGTGTTAAGTAGGGATGATAACAGTACCTACACCCTCCAGTTGTTAAAAATCATAAATGAGATAATACTAATGATGGTGCTGAATGCATGGTCTAGTATCTGCTAAGCATACAAAAATGAAGGTGGTTATATCATTATCGTATTAGTGTCTTTCTCACAAAGATGAGTGACGAAATGGGATCTTCAATGTCCTAGTCAGCATTCAGGTGATGCCAATCAATTCCGTTCAATTCATTTTTTTAAAACACAGGAAAAAAGTCTTGAAAAGTGAATAAGACATATTTCTGACCTGAAAAAAAAAGCCTAAAAGATTGTATGGAAGACCAACATACTTGTACTTAACTACATTGCTAATCAGGATACAACTAAGTGGTCTAATTCCTTGCTGGTTAAAGTATGCTCTGTGGATCAGTGGCATCAACATCATCTGGGAGCTGGAGAAAAATCAGACTCTCAAGTCCCATCTCAGCCTTCTGGGTGAGAATCTGTATTTTAACAACATACCTATTTGATTGATAGGCACATAGAAGTTTGAGAAGCAATAGTCTGAAATATTTCAAACAAAATTCTATGTTGGTAATTATTTCTGGTGGTGGGGGGTGGATTGAAGGACTTGCTGATGAAGTTTAGTTTATATTGGGTCTTTCAGGTTGATCGAGCTTTCAAAGAAGGATGGAAAGGACATTCTAGACTGAGGAAATAGTAAGAACAAAGGCAGGAGGTGTGAAATTTTGTTTCTCCATAAACATGTATGATGTTTAGAGAGAAAGCATTAGTAGCTCATAAACTGGATTATAGAGAATATGCGATAAAGTGATAGATGAGGCTCAAAAGTTTGGTTGGCAACAAATGGCGACATGGCATCAATGCCATGTTACAAAGGATGACTATCCTATTAACATATAAAATGAGACCTCAGATATTTTAGGGCAGAGGGATGTCGTCATGGTTTATTTAGATAGCACATGGGGAGATACATGGATGATTGATTTGAGCCTAAAGGACAAGTGGAAGAGGGGCTATCTAGGCAACTCTTGTAAGAAACTGTTGAATGAAGAGAGTTTACAATATAGGGACTAAAAAGAAAGAAAATGCGGCATCAAGAGACATTTCTGAGGTGAAAACTCTGGGAGTGTGTGAGTGGCACTAGCATTGAATCAAAGATGACTTATGTTTACAGCTGAGGTGACTGAGTGGAAGAGCAAGAGAGCAACTAAGACTGGATCACAGAGAAGGGGTTGGATTAAAAGGAAGATACCTAGTGAGTTCTTGAACAGATCTGGCTTGCGGTATCAGGGACATCCATATGGAGATGCACAAAAGGTAGTTTGGGCTGTGTATTAGTCTGATCTCACACTGCTATAAAGAACTACCTGAGACTGGGTAATTTATGAAGAAAATAGGTTTAATTGACTGACAGATCCACAGGCTTAACAGAAAACATGACTGGTAGGCCTCAGGAAACTTATAATCATGGCAGAAAGTGAAAGGGAAGCAAGCATGTCTTACTATGGCAGAGCAGGGGAGAGAGAGAGACAGAGAAAGGGGAAGTGCCATAGACATTTAAACCACCAGATACCGTGAGAACTCATTCACTATGATGAGAACAGCAAGAGGGAAGTCCGCTCCATGATTTAGTCACCTCCCACCCAGCCTCTGCTTCAACATGTGGGGATTACAGTTTGACATGAGATTTGGGTGGGGACACAGAGCCAAATCATATCAGGCTGAAAGGCAAGCTCAGGGCAGAGATGTGGATTTTGGAAGCATCTCTATGCAGATAGCAGTCAAAATTATGGCAATGCATGAAATAGACCAAATAGTAGGTACAGTGTGAAGAAGAAAAGAAACCAGGTATAAAAGACTGGTGATCATGTAAAACACGGGTGAAAAAGGAAATGATGGTAGGACATCTTTATGGACACTTAGGACACCCCTCCACCCCCACCTCCTGACCCTTGGCCATATTTCTTTTTCTCTTTAAAATTTCCTTTGCTATAAATGATGAGCTGCTTCAAAATCTCCAGGGATTGCCTAGGCCCTGGACCTTGCTAGGAATTGCTCTAAAACCCACCCAGCTCTGCCAGGAAGGGCACAAGGGTTGCATTACAGTCCAAATAGCCACAGTAGCCATCCAGAACTCCTGAGTGACTGGATACTACTTTTTGCAACAATAACAAACTGCCCAGAACCTCAGTACTTATGATTTGTTCATTATTTTCTGCTTGTGGTATAGATCTCACATCCCGTAACTGTCTCCTGAAAGCTTAAGTACATCAATAATTTGTATTTATATATAGTGATTTTTTGTTGTTCACATGATGATTTCTCATTAATTATCTCCTTTGTTTTTCAAAATCACCACCAAAGGGAAGCATTGTTTTTACTCTCATTTTACAGCTGAGGCAGCAGAGGCTCACAGTAATTTTTCCCAAGATCTCATAGTTAGAATATTGTCCAACCTAGGATTTTAGATATTAAACTCCAGGCTATTTTCCCTACTTTCAGTTCTTGTCCCTAAACTGTTAACAGGTCATCCATACGTGCAGGCTCAGTTAGATGTTTTTTTTCTTTCAGATCAGATATAATGGCCCACATGATCTCATTTATATGTGGAATCTAAAAACGTTGAACTCATAAAAGTAGAGGGTAGATTCCTGGTGGCTGCCAGGAGCTGGAGGCAGGGTGTGGGGCAAGGGCGATGGGAAAAGAAGATATTAGTCAAGGTTTCAAAGTTTCAATTAGGCAAAAGGAATAAGTTTTAAATATCTATTTCACAGCATGATGATTATAGTTAATAATATGTAACGTATATTTAAAATTACTATGATGATAGATTTTAAATATTTGCACCACAAAATAATGACATATTAGTCTGTTTTCTTACTGCTGATAAAGACATACCCAAGACTGGGCAATTTACAAAAGAAAGACATTTATTGAAATTATAGTTCCTTGTGGCCAGGGAGGCCTCACAATCATGGTGGAAGGTGAAAGGCAATGTCTCACATGGCGGCAGAAAAGAGAAGAGAGCTTGTGCAGGGAAACTCCCCTTTTTTAAAACTGTCATATCTCATGAGACTTATTCACTATCACGAGAACAGCACAGGAAAGACCTGCCCCCATGATTCAGTTACCTCCCACCAGGTCCTTCACACAACATGTGAGAATCCAAGATGAGATTTGGGTGGGGACACAGCCAAACCATGTCAAATGGTAAGCATGTGAGGTGATGGATCTGTTAATTAGCTTGATTTAATTATTCTATAACATATTTATATATCAAAACATCACACTGTACTGCATAAATATTATTATTTGCTAATTAAAAAACAAAAATATATAATAGTTCAGTCATCTCATCAGCTAGAAACTTCCTAATACATATGTTAATTTCTCCCCTGGTTAGGGAGAAGATTGGCACCCTTTCGTTTAGATGCTACCACTGCTGTTAACTGTACTTTTGTCCTTGAGGCTATATCAAGGGCATCTTCTATTGATTAACATATGGTAACCACATAAGGTAAATTGCTAATTGGAATCAGCAGTGCATATAAAGTTATTTTTTTTTACCCTGAAACAATATTGTAGTAAGAAACAAACAAATAAAACCTTTGCTTAGTCAGGATGCTAGGGTGTGGCTTGCCCCTCATTAGAAGCCACACAGTTGTTGACTAAAAAACCACTGCAGCCTTGGGGTTGTCTGAAGAAGAAGAGTTGCATGATGTTCAAATATCTTTGGTGACAATGAAAGTCTTCATGCCAATGGTAAACTGGCCAAAAAATGTTTATTAAGAGAAAGAAAGTAATATCTTAACAGATGATTTTGAAGCACACTGTGAGGTGTAACTTTTTTATATTATCTTTTTAAAATCAAAACCTTTTTTCTACATCTTACTTTTTGATGATAGTATCACAATAAATTACTGTGTACAAAGCTGTATCTGTTTATATATTTCAGAAATGTAATACACACACAGATACACACATACATGTGGAATAAATTTTATAGGGTGGTATACAGTTTTATGTAAAATTACCATGGACTTTTTATACAAAGTATTCCATAAGACTGATCCAGTGGTTGAGGTGAAATGGAACTGAACATACAGATTTTAAATACTTACTATGGTTCAAGAGTTAATTTTAATATTTTATTAAAAAATGCTTCCTTTGAGTGTTCACAATATCATTATAATATCCTATTACTACCTGGAATTATCACAGTAATGTTGTAGGGTAAGTATTATTATCCTTTCTTTGAAGAAAGGCTCAGAGATACTGAGTAACTCACCTAAGATCACAAAACTAGGAAATGGTCAAACCAGAATTAAAACTACAATTTGTCAGGCTCCTAAGTTCTCCCTCATGATCACTATTCCTGCCTTGCTCAAGATTACATTGCACCAGCCAGAAGAAGTATGGGAATTCAGGTGTGCTAACTTCCTTCCTAGAGTTCTTTTCTTTGTTTTGTTCTGTTTTCAAATAGGTAAACTGACATGAGGCTCATGTTAGTTTAGATTCCAGATACCTAAAGAAATGGTTTCAAAGCTTCTTCTCACAAGCCACAGATTGGGACTCCTGAAAATTTTCTTCATGTGTTTCTTGGCATCATGGAGTTCTTCTCTTCCCATAATTCCAAATAGCACTGGACTTCCAGGATCAATGTCATGACAAGGTCAAGGTCAAGTTCACCCCAATAGACGCATGACAAAGTTGCTAAAGGGCAGCTGGACATAGTTCAGTGAGTGACAGAAAAACGCCCTTATGAGGGGAGATCTGGCGAGAGGACTAATGAAGCTGGTTAATGTCTCTCAATGTGCTTGCATTATTCAGTTTCAAAGAGCTGAACAAAGATACAGGGAAAACAACACTTGCCTCAAATGGCCAACAATTAAATTCGCCCCCACAGACAAGCCAGACTCAGTTCAGCCATCTGCTAGTCATCCAAAGGAAGGAAGAGACATGACTGGAGAGTCACAGGAAATGGTTTTGTGACCTAGATAGCAGCTGTAGAATTAGGACCTTTGTTCTTAGTTTGGCCACATAGTAAATTGTAAATCCTAAAGGATGTGTATGTGATAAATTTTACATATGCATCATATATGAATATATGATACAAATATACACATATTTAAGCATGTATTTTTATTACAGACACTTTTCTGTTTTTGTTGAGACAGAGTCTCGCTCTGCCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCCCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCCAGACACTTTTCTGTTTTATACTTGTTTCATTTATGTAGGAATATGTATTGTAAATAAATGCACATACATGCATAAATATAGACACAAACACACATATGGATACAGACACATACACACACTCATCATATAGTCAGAGTAGCAGAAATCTTAGAAATCAGCCTGCTTCTGTTGTTTCATTCATGAAGAAACAAGAACTCAAAAAAATATTTAATTCACCAAAGACACACAGTTAGATGTAGATGTTGCTAGAAGTTTATAGAGTTCTTATAAGTTCCTACCTAAATCTCTATCTATCTGATTCTAGGCTGTGGAATCAGGCAGAACCTAGGATAGAATGCCGTATCCATCAATTACCAATTATTCTGAGATACCACTTTTTGATTTGTAAAATGAATACAATAATCTCTATTTTAAATGGGGTGACATAAAGGCTAAGTGAGGCCAACTGTGTGAGGCCTCCATCACTATACCTGTACATAGAGGCTGCTCAATAAACAGTCCTTTTCTCCCAATTTTCATTGTCTACAGCTATGCAATATGCATTATCCTATAAATTTACTATTGAGTTAATATGCTTGATTTAACCTTCATGTCCACTTAATTTTCAAAATTATTTTTAGCCACTGGTTGGTTGAATAGATAGAGATGGATTTAAAGTAATAGAAAAGCAGCAGTTGTAACTTAGAACAAACCATGACTTGGGTATGTCTATATCACTTTCGGTCTCACACACTCCACACAGGGCTGCATTCTGTGGAAGGGTCTTGTATTATCTATGAATATGCACTGTTTTTCCTAGTTCAGGCATACAAAGATCAGTACTGTAATGTGGAAAAAAAAAAAAACCCTTGAAGAATGCAATTCTCATTTGTTTCTTTGAAACTTTGTTTTTGAGAATTTCATTCCACTTAACTCAGGACTCTCAGCCTGCCCTGATAATTTATATCTACATTTCAAAGACTATGAATCATAAATGCATATTTCCATCTATTGTACAATCTCTCAACATTGCTTAAAGGAGAGTGAGTGGATTCTTTTTAAATCTAATCTTCCCAGTACTCATCCAGGAAATTTCAAATCCAACAACTTTTCATTCAGATGGGTGTATGTTGTTTCTTGTTCTTTTTTTCAGTACAAACTTCTGAAACCAGCAATAGCAAATATGTGTGCACATTGATTTACCCTAACATGAATAACTGTTTTCCCCAGGGTGAAATTGAAAAATAAAATGAGTGAATGATGGAGAAAATTGAGTAGCTAGGGATTCTAAATGGCCTTTGGTTTGAATTAAGTATTGTACTCCACTTCTGAGTAGTTGAAATCTGTTATTCTACCCCTTGAATTTTCCTTATTTCTTTTGTCCTGTCTTTCTGCCTTTCAGGCAACTGCCATGCTTTGAATGTATGTGTCTCTTCAAAATTCTTAACTGCCAATGTGATAGTATTAGGAGGTGAGGACTTTAGGGGGTAATTAAATCATGAGGGCAGAGCCATCCTGAATGGGATTAATGTTTTTAAAGAAAGGTGTAAGGGAGCTGTTCATCCCTTCTGCCATGTGGGAGCACACTAAGGGGGGCCATCTTGAAAACAGAGAGATGCCCTCACCAGACACCTAAGCTGCCAGCACATTTATCTTGAAATTCCTTGCCTCCAGAACTGTGAGACAATACATTTCTGTTCCTTTTAAATGACCCAGTCTTGGGTATTTTGTTATAGAAGCATGAACAAATTAAGACAGCAACATACTTAAAAAAAAGTTAGCACTGACTATCTATATGTTAGGCACTGTGCTAGTCAATGCAGATATTGACATAGATGTCCTATGTTTTAAAGTGTCTGCAGGCTAGCAAGGGAGAGAGAAACACATAACCATAAACCAAAGTGGCAAATCCACTCTTGTCCCAGAAAGTGAGCTGCTGATGTAAATTTAGTCTCTCAGATAGAATTTCTGTTGCAAAGAGACTATAATGACTAGCTGACAAAAATGTTCCTTTCGGTTTCCTTAGTATAATTATGTTTCTCATATAAATGAATAAATTGACATGTTGGCTTCTAAGTAAATTTTTTGGACTGTGGTGAGTTATTTCTCAAGATCCAGTTGCCACAGGGTGAAATGACAAAACCACAGGACTGACTCCATCTTGCTGAGAAAGTGCTCCGAACACTCAGTAGTTCCAACAAGATGCAGGCCCCCTCATGAGATTCAGCCTGAAGTGTCCACACCGAATATCCCATTACAGCAGCTAGTAAGGAATGGGATAAGTTGTATTTGGGGCTGTCAAAAATGCTTTGAGGTAAATCTCTAGTTGAAGTAACAATTGGGCAGAGACAAAAAGAGAGCAAATATTTGTTGAGTTTCTAGAACATTGTTTTATGTGCTTAGCTTAGAGCAGCTGTTAATTATCTTAAATCACACATTCAGTAAGTAGTAGGTCTTAAATTTGAATCTAAATACACATTCTGCCTATTTTGCTTTTTCAAGAATATTATTAGAGACTATATCAAGAACTGTAAGGTATTTTATGCTTTTTAGAATAGCATTTTCCTAAAAAAGTATTCCTAGGAAATAATAAGAGATGCACAGAAAGGATATCAAGAGTGATCACATTGTGTAATTTATACTAACAAATAAACTGGAAACAACCAAGAGAATCAGCAAGGTAAATGTGGATAAATGAATTACAATGTAGTCATATGATGGACCGTTATACACAAAATTAAAAGCAGCGTTTCATGACAGGAAACATTTTAAGATGTAATGTTAAATATCAAAACAAGAATGCAAAATTTTGAAGTGTATGATTTCACCACGATTTTAACATGCACAGAAAAAAATTGTAAAGGAAATTAAGTGCTTATCTCTAGATGATGAACATACAAGTTAATTTAATTTCTTTTTACTTTTCAGTAATTTTCAAATTTTCTAATATTAAACATATTATTGTAAAGCAATGAAATATTTTTATAGAATTATATTAATCAAGGTGCTTCATATAGTGATTGCAAGTTTTAGGCTGCTGCCACCTGTTTAGTGGGTACAGGGATGCCACCACCCCACTCCTGCTGGTGACCCCTCCCAGCTCATGTGCGTGCACCCTGTGGGGATGCTGTGGCTAGTCGTACATGCAAGTGAGCACAGATCCTGCTGCCACTGCCCTGAGTAAGTGCTTTGACTGCCTCCCCCACGTCAGAGTATTGTGGCCAGTGGGCCAAGAACACCTCAGTCCCTCAAGTACAACAGGTTCCTAATCTTGAGGGGCCAGAAAATGAAGCCCAGAGTAAGGACACACAGCCAAGGAGTGCTGAGTTGAGCCTTCCCCGCTTAAATCTTACAGAAACAAAGCCTGTCAACCTTATTCCACAATAAAATCCCCAAGGGCATCAAAGAAGATAAAAGCGAAAAGAAAAAAAAAATCCAAAGGACAGCAACTTTAAAGACTGAAGGAACATCAGCACACCTAGGTGAGAAAGAAACAGAGAAAGAACTCTGGCAACTTAAAAAGGCTTCCTACCTTCAAATGACTGCACTATTTCCCCAGCAATGGTTCTTAACCAGCCTGAAATGGCTAAAATGTCAGAAATAGAGTTCAGAATATGGATTAATGAAGATCACTGAGATTCAGGAGAAAGTCAAAACCCAATCCAAGGATACTAAGGAATACAATAAAATAATACAGGAACTGAAATTTGAAAAGGTTATTTTAAGAAAGAATCAGATTTGACAGAGCTGGAAAACTCACTTCAAGTATTTCATGATACAATCACAAGCATTAACAGCAGAATAGAGCAGCTGAGGAAAGAATCTCAGAGCTCGAAGATTCGTTCTGTAAAATTACTCAGTCAGACAATAAAGAAAAAAGAATAGAAAGGAAAGAACAAAACCTCTGAGGAATATGGAATTGTGAAGAGAGACCAAATTGATGACTTATTGGAATTCTTGAAAGAGAAGGAGAGAAAGCAAGCAACTTGAAAAACATATTTGAGGATATTGTCTATGAAAAATCCCCCAACCTTGCTAGAGAGGTCGAGATTCAATTTGAGGAAATGCAGTAACCCCTGTGAGATACTATCTGAAATGAACTACGCCAAGACACATAGTCATCAAATTTTCTAAGATCGAAATGAAAGAAAAAATGTTAAAGGCAATTAGAGAGAAGGGGCAGGTCACCTACAAAGGGAACCCAAGCAGGCTAACAGCAGATCTTTTAGAAGAAACCCTACAAGCCAGAAGAGATTGCGGGCCTATATTTAGCATTCATAAAGAAAAAAAATTCAACCAAGAATTTCATATCCAGCCAAACTAAGCTTTGTAAATAGAAGAGAAATATGATCCTTTTCCAAAGAGCAAATGCTAAAAGAATTTATTACCACCATACCTGCCTTACAAGAAGTCTTTAAGGGAGAGATATATATGGAAAAGGAAGATGGTTACTGGCCACCAGAAAAACACACTAAAGTACATAGACCATTGCCAATGTAAAGGAACTACACAATCAAGTCTGCATAACAACCACCTAACAAGATGATGACAGGATCCAATCCACACATATTAATATTAACCTTGAATGTAAATGGGCTAAAGCCCCTGTTAAGAGGCTCAGAGTGGCAAGTTGAATAAAGAAGCAAGGTCCAACTTCAAGAGACTCATCTCACATGCAATGACACTTGTAGGCTCAAAGTAAAGGGATGGAGAAAAATCTACCAAGCAAAGAGAAAACAGATTCACAACTGAATTCTATCAGACATCTGGTCCTGGGCTATTTCTGGTTGGTAGGTTTTTTATTACTGATTCCATTTCAGACGTCATTATTGGTCTACTCAGGATTTCAATGTTTTCCTGGTTCAATATTGGGAAGTTGTATGTTTCCAGGAATATATCCATTTGTTCTATGTGTTGCACTTTGTGTGCATAGAGGGGTTAAAAATAGTCCCCAAAGGGCTTTTGTATTTATGTAAGATTGGTTTTAATGTCACCTTTATTATTTCTGATTGTATTTACTTGGATCTTTTTGTTTTTTCTTTATTAGTCCAGCAAGGAGTCTATCAATCTTATTTATTCTATCAAAAAAAAATTCCTGGATCTGTTGATCTTTTATATGGTTTTTCACCTCTCAATTTCATTCTGTACTCCTCTGATTTTGGTTATTTCTTGTCTTGTATTAGCTTGGGGTTTGGTTTGCTCTTTTTTTGTTGTTGTTGTTGTTGTTTGTTCATTTAGTTCCTTTAGGTGTAATGCTAAGTTGTTAATTTGATATCTTTCTAACTTTTTGTTTTGGGTGTTTAGTGCTATAAACTTCCCTCTTAACATTGCTTTAGCTGTGTCTCAGAGATTCTAGTATGTTGTATCTGTGTTTTCATTACTTTTGAAGAATTTCTTGATTTCTGCCATAATTTCCTTGTTTACTCAAAAGTTATTCACAAGCAGGTTGTTTAATTTCCATATAATTCTATGGTTTTGAGAGATTTTCTCAGTATTGATTGCTATTTTTATTGTGCTGTGGTCCAAGAATGTGGTTGGTATGATTTAGGTTTTTTGAATGTGCTGAGGATTGTTTTACAGCCAATTTCATGGTCATTTTAGAGCATATGCCATATGCAGATAACAGAAATGTATATTCTGTTATTCTGGGGTAGAGCTTGCTGTAGATACCTACTAGGTCCATTTAGTTAACTGTGGAATTCAGTTCCAAAATATCTTTGTTAATTTTCTGCCTTGATGGTCTGCCTAATACTTTCAGTGGGGTGTTGATGTCTTCCACTGTTATTGTGTGGTTATTTAAGTCACTTTGTAGGTCTCTAATAACCTGTTTTATGAATCTTGGTGCTCCCGCATTGGGTACACACATATTCAGGCTTGATAGGTCTTGTTGAATTGAGCCCTTTACCATTATGTCATGCTACATTAAGGGAGAATCCTGTGGGGCAAAAGAATCTGAACAGCAGACCTTGAGTTCCAGGTCTTCCCTCTGATATAGTCTACTGAAAAGAGAAGGAACCAGAAAAATAATTCTGGTAATATGACAAAGGTTCTTTAACCCCCAAAAGATCACACTAGCTCACCAGCAATGGATCCAAACCAAGAACAAATCCCTGAATTGCCAGAAAAAGAATTCAGAAGGTCAATTTTTAAGCTAATCAAGGAGGCATCAGAGAAAGATGAAGTCCAAATTAATGAAATTTAAAAAAGGATGTTACAAGACATGAAGGGAAAAATCTTCAATGAAATAGACAGCATACATAAAATGCTACTTCTGGAAATCAAGGACACACTTAGAGAAACATGAAGTGCACTGGAAAGTCTTAGAAATGAAATCGAACAAGCAGAAAAAAAAAAACTTCAGAGCTCAAAGACAAGGTTTTGAAAGTAACCCAATCCAACAAAGAGTTTAAAGTAAACAGAATTTTATGAAATGGTCAAAGTCTCCCAGAAATTTGGGATTATGTTAAACAGCGAAACCTAGGAATAATTGGTGTTCCTGAGGAAGAAGAGAAATCGAAAAGTTTGGAAAACATATTTAAGGGAATAATTGAGGAAAACTTCCCCAGCCTTGCTAGAGATCTAGACATCCAAATACAAGAAGCTCAAAGAACACCTAGGAAATTTATCACAAAAAGATCATTGCTAGGCACATAGTCATCAGGTTATCTAAAGTCAAGACAAAGGAAAGAATCTTAAGGGCTGTGAGGCAAAAGCACCAGGTAACCTATAAAGAAAAACCTATCATATTAAGTGAAGGTTTCTCAGCAGAAACCCTACAAGCTAGAAGGGATTGGGGCTCTATCTTTGGCCTCCTTAAACAAAACAATGATCAGCTAAGAATTTTGTATCCAGTGAAACTAAGTTTCAGATATGAAGGAAAGATACAGTCTTTTTTCAGACACACAATTGCTGAGAGAATTCACCACTTCCAAGCCAGCACTGCAAGAACTGCTAAAAGGAGCTCTAAATCTCAAAACTATTCCTTGAAACACACCAAAATAGAACCCCTTTAAAGGATAAATCTCACAAAACCTAGAAAACAAAAACACAATAAATAATAATAATAAACCAAGGTATTCAGGCAACAACTACCACAATGAATACAATAGTACCTCACATCTCAATACTAACATTGAATGTAAATGGCCTAAATGTGCAACTTAAAAGATACGATGGCAGAATGGATAATAATTCACCAACCAAGTATATGCTGTCTTCAAGAAATTCGTCTAACACATTACGACACACATAAACTTAAGGTAAACTCATAGCAAAACAGTACTGTGGTGAACTGGGGACAGATTTGCTGCTACTGCTGCTGCTGCCACTGCCACCACCTCTACCTTCTGTTGCATGGATAAACTGAGGGATGTGGCACTGTTGTGAGAGTCTTACAAATTCCAGGCAGGTACTCCTAGCTGGGACCCGACAATTCAGTTTGCACCCCAAGGCTCTAAATCTCAGCTCCCCTAGGTCCTGGTACCATGTCTTTGGAAGACACACACAGAAAGGACTTAGATACCTTCTGAAAAGGATGGGACAAATAAAACTTATATTCCCTCCTCTCCTCTTGCTTGGAAGATCATTTAAGATTAGGAGATGAAGTGACTTTTCCCACTGAAGGGGACACAGAGGAAACTATGATTAGGAGTTTCCAGACACCTGTGTTCCAGCCATGGTTTCCCTATGTCCTCGCCTTGGGACCCAGCACTACTTACTAAACCTTTTTGAGTAACAGTTTCCTTATCTATAAACAGGAATAATAATAGGACCAACTGCACAGAGCTGTTGTGAAGGAAAAAAATAATCCATGCAAATGAACACCCAAAATGAGCAGGACTGGCTATTCTTATATCAGACAAAACAAACTTTAAAGTGACAGCAGTTAAAAAAGACAAAGAGTGACATTATATAATGATAAAAGGATCAGTCCAACAGGAAAATGTCACAATCCAAAATACATATGCACCTACCACTAGAGCTCCCAAATTTATAAAACAATTACTACTACACCTAAGAAATGAGATAGACAGCAACATAATAATAGTGAAGGACTTCAATGCTCTACTGACAGCACTAGACAGGTCATCAAGAAAGAAAGTCAACAAAGAAACAATGGATTTAAACTACACCCTAGAACAGATGGACTTAACAGATATTTACAGAATGTTCTGCCCAACAACAGCTGAATATACATTCTATTCATCAGCACACGAAACATTTTAGAAGATAGACCATATGATAGCTCACAAAACAAGTCTCAATAAGTTTAAGAAAATTGGAATTATATCAAGTACTCTGTCAGACCACAATGGAATAAAATTGAAAATTAACTTTAAAAGGACACTCAAAAGTGTGCAAATACATGAATATTAAATAACCTGCTCCTGAATGATTGTTGGGTCAACAACGAAATCAAGATAAACATTAAAAAATTCTTTGAGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGTGGGTGGACCCCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGTGTGGTAGCACATGCTCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGTAAAATCGCTTAAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGACTGTGCCACTGCACTCCAGCCTGGTTGACAGAGCAAGGATCTATCTCAAAAACATAAAATAAAATATAAAATAAATTCTTTGAACTGAACAGTAATAGTGACACTTATCTCTCCTCCTTTCCCAAACATTATAAAAACCCTGTTTCTCTAACTGTACAACTACAAAGTCACTAAAAAAAACCTCAAGATGTAAAACATGTTTTTCCTTAAAAAATAAAAAATAATACATGTCTCAATTAATTAAATAACTGTCTTTGTTTCTCACTTCTATAATATAGTTTCCCCTGCACAAATTTCCCCCCGCCTCATGAAATACTTAAAAAATAACTTAACTCTTGGTTCAAAACTCAGTCCTTTAAATATTAATCCAACTAGACCAGTAGACCTAAATAATAAATATCCTCCTAAACCCCATCAGTCTCTCTAGTTCCTTAAAAATCCTATCAAAACCTATCAAAGTCTCTGGAATACAGCAAAGGCACTGCTAAGAGAAAAGCTCAAAGCCTTAAATGTCTACATCAAAAAGTCTGAAAGAGCAAAAATAGACAATCTATGGACACACCTCAAGGAACTAGAGAAACAAGAACAAACCAGTCCCAAACCCAGCAGAAGAAAAGAAATAACAAAGATCAGAGAATAACTAAACTAAACTGATACAAACAAATAAAACACAAACAAACAAAAAACAATACAAAAGACAAATGAAAAAAGCTGGTTCTTTGAAAAGGTAAGCAAAATTGATAGGCCCTTTAGTGAGATTAACCAACAAAAGAAGAGAAAGATCCAAACAGGCTAAATTAGATATGAAACAGGAGATATTACAACCTATGCCACAGAAATACAAAAGATCATTTGAGGCTACTATGAATAACTTTATGCACATAAACTAGAAAACCTAAAGGAGATGGATAAACCCCTGGAAATATACAGTCTTTCTAGATTAAACCAGGAGGAAACAGATACTCTGAACAGAGCAATAGCAAACGGTGACATTGAAATAGTAATTAAAAAGTTACCAACAAAAAAAGTCCAGAACTAGATGGATTCATAGCTGAATTCTATCAGATAATCAAAGAAGAATTGGTATCAATCCTATCGACACTATTCCACAACAGAGAGAAAGAGGGAATCCTCCCTAAATCATTCAATGAAGCCAGTATCACTCTAATACCAAAACCAGGAAAGGACATAACATAAAAAGGAAACTACAGACCAATATCCCTGATGAATACAGATGCCAAAATCCTTAACAAAATACTAACTAACCAAATCCAACAGCATATCAAAAAGATAATGCATCATGATCAAGTGGGTTTCATATGAGGGATGCAGGGATGATTTAACACACACACGTTGTATTAGTCCATTCTCATGCTACTATGATGAAAGACCTAAGACTGGGTAATTTATAAAAGAAAAATAGGTTTAATTGACTCACAGTTCTGCATGGCTGGAGAGGCCTCAGGAAATTTACAATCAAGGCAGAAGGCACCTCTTCACAGGGTGGCAGGAGAGAGAATAAGTACTGAGTGAAGGGGGAAACCCCTTATAAAACCATTGGATCTTGTGAGAGCTCACTCGCTATCACAACATGGGGGAAACTGTCACGATGATTCAATTATCTCCATCTGGTCCTGCTCTTGATATGTGATGATTATTACAATTCATGGTGAGATTTGGGTGGGGACACAGAGCCAAACCATATCATTCTGCCCCTGGCCACTCGCAAATCTCATGTCCTCACAATTTGAAACAATCACAGCCTTTCAACAATCCCCCTAAGCCTTAACTCATTCCAGCATTAACCCAAAAGTCAAAGTCCAAAGTCTTATCTGATACAAGGCAAGGACCTTCTTCCTACGAACCTGTAAAATCACAAACAAGTTAGTCACTTCCTAGATACAACAGGGGTACAGGCATTGGATAAATACACCTGTTCCAAATGGGAGAAAATAGCTAAAACAAACGGGCCACAGGTCCCATGCAAGTTCAAAATTCAATAGGGCAGTCATTAAACCTTAAAGTTCCAAAATGATCTCCTCTGACTCCGTGTCTCACATCCAGGTTACACTGATGCAAGAGGTGGGCTCCTATGGCCTTGGGCCACTCCAGCCCTGTGGCTTTGCAGGGTACAGACCCCCACCATGGGTACTTTAGTGGGCTGGCATTGAGTGTCTGTGGCTTTTCCAGGTGCATGGTGCAAGCTGTCAATGGATCTACCATTTTGGGGTTTGGAGGACAGTGGCCCTCTTCTCACAGCTCCACTAGGCAGTGCCCTAATGGGGACTCTGTGTGGGGGTTTCAATCCCACATTTCCCTTCTGCACTGTCCTGGCAGAAGTTCTCCATGAGAGCCCTGCCCCTGCAGCAAACTTCTGCCTGGACATACAGGTGTTTCCATACATCCTCTGAAATCTAGGCGGAGGTTCCCAAACCAGAATTCTTGACTTCTGTGCATTCACGGACTCAACACCATGTGGAATCTGCCAAAGCTTGGGGCTTGCACCCTCTGAAGTAATGGCACAAGCTTTACCTTGACCCCTTTTAGCCATGGCTGGAGCTAAAGCAGCTGGAATGCAGGACCCCATATCCTGAGGCTGCACAGAGCAGGGGGGCCCTGGACCTGGCCCACTAAACCATTTTTTCCTTCTAGGCCTCTGGGCCTGTGATGGGAGGGACTGCCGGGAAGGTCTTGATATGCTCTGGAGATATTTTCCCCATTGTATTAGTGATTACCATTCAGTTCCTTATTATTTCTGCAAATTGCTGCAGCAGGCTTGAATTTCTCTACAGAAAATGGGTTTTTATTTTCTACTTCATCATCAGGCTGCAAATTTTCCAAACTTTTATGCTCTGTCATATCTTGAATGCTTTGCTGCTTAGAAATTTCTTCCACCAGATATCCTAAATCATCTCTCTCAAGTTCAAAGTTCCACAGATCTCTAGGGTAGGGGCAAAAAGCTGCCAGTCTCTTTGCTAAAGCATAGCAAGAGTCACCTTTACTCCAGTTCCCAACAAATTTCCCATCTCCATCTGAATTCACCTCAGCCAGGACTTCATTGTCCATATTACTATCAGCATTTTGATCAAAGCTATTCAACAAGTCTCTAGGAAGTTCCAAAGTTTCCCATATCTTCCTGTCTTCTGAGCTCTCCAAACTATTCCAAACTCTGCCTGTTATCCAGTTAGAAAGTTGCTTGCACATTTTCAGGTATCTTTACAGCAGAACCCTACTTCTGGTACCAATTTACTGGTACCAGAAGTATTCGTTGATTCTCATGCTGCTGTGAAGAAATACCTGAGACTGAATAATTTATTAAAAAAAGAGGTTTCATTGACTCACAGTTTCACATGGCTGGGGAGGCCTCAGGATACTTACAATCATGGCAGAAGGCACCTCTTCATATGGTGGCAAGAGAGAATGAGAGCCAAGTGAAAGGGAAAGCCCCTTATAAAACCCATGGTATAAAACCCAGATACCATGATAACTTACTCAATACCATGAGAATGACATGGGGGAAACTGACCCCATGATTCAATTATCTCCACCTCGTCCTGCCCTTGACACATGGGGATTATCACTTAAAACAGAGCTACCATTTGACCCAGCAATCCCCTTATTGGGTGTATACCCAAATAAATATAAATTGTTGTGCCATAAAGACACATGCATGCATATGTGTATCACAGCAGTATTCACAATAGTAGGGAATGGAATCAGTCCAAATGTCCATCAATGGTAGACTGGATAAAGAAAATGTAATTTAGTAGCAGGGAAACATTGAGTACACATGGACACAAAGAAGTGAACAACAGACACTGGGGCCTACTTAAGGGTGAAGGATGAGAGGAAGGTGAGGATAGAAAAGCTACCTATCATGTACTATGCTTATTACTGGAGTGATGAAATAATCTGTGCACCAAACCCCTGTGACATGCAGTTTGCCTATTTAACAAACCTGCACATATACTTTTAAGCCTAAAATAAAAGTTTAAGAAATGAAATTTTAAAAAGAAAGTTTTTAAAGGTCTGTCATACTTGTTATCTTTAACATCTGTATTAGTCTATTTTCATACTGCTGCTAATAGAGACATACCCGAGGCTGGGTAATTAACAAAGGAAAGGAGTTTTAATGGTCTCACAGTTGCACATTGCTGGTGAGGCCTCACAATCATGGTGGAAGGTGAAAGAGGAGCAAAGGCATGTCTTCCATGGTGGCAGGCAAGAAAGTATGTGCAGAACTGCCCTTTGTAAAACTATCAGATCTTGTGAGACGTATTCACTATTATGAGAATAGAATGGGAAAACCTGCCCCTATAATTCAATTACTTCCCACTGGGTCCCTCCCAGGACATGTGATATTATGGGAGCTACAATTTAAGATGAGATTTGGGTGGGGACACAGCCAAACCATATCATTTTGCCACAGTCCCTCTCAAATCTCATGTCCTCAAAACTCAAAATGCAAGCATGCTTTTCCAACAGTCCCCCAAAGTCTTAACTCATTTCAGCATAATTTAAGAGTCCAACTCCAAAGTTTCATCTGAGACAAAGCAAGTCCTTTCTGCCTATGAACCTGCAAAATCAAAAGCAAGTTAGTTACTTTCTAGATAAAATGAGGGTACATGCATTGGGTAAATACACCCATTCCAGACTGGAGACATTGGCCAAAACAAAGGGGCTACAGGCCCCATGTAAGTTCAAAATCCAGCAGAGCAGTCAAATCTTAAAGCTCCAAAATGATCTCCTTTGACTCCATGTCTCACATTCAGGTCACTCTGATGCAAGAGATGGGCTCCCACAGCCTTAGGACACTCTTCCTTGTGGCTTTGTGGGGTATAGCCCCCCCTCCCAGCTGCTTTCACAGGCTGGCATTGAGTGTCTGTGGCTTTCCAAGGCACATGGGTGCAAGCTGTTGGTGGATCTACCATTCTGGGGTCTGGAGGATGATAGCCCTCTTCTCATACCTCCACTAGGCTGTGCCCTAGTGGGGACTCTGTGTGGGGGCTCCAACCCCACATTTCCCTTCTGCACTGCCCTGGCAGAGGTTCTCCATGGGGGCCCTGACCTTGCAGCAAGCTTCTGCCTGGATATCCAGGCATTTCCATACATCCTTTGAAACCTAGGTGAGGGTTCCCAAACCTCGATTCTTGACTTCTGTGCACTGCACCTGCAGGCTCCACACCACGTGGAAGCTGCTAAGGCTTGGGGCTTCCACCCTCTGAAGCCATGGCCTGAGTTGTACCTTGACCCCTTTTAGCTATGGCTGGAGCAGCTCGGATGCAGGGCACCAAATTCCTAGGCTATGCACAGCAGGGAGGCCCTGGATCTGACCCAGAAAACCATTTTCTCCTCCTATGCCTCTGGACCTGTGATGGGAGTCCTACAGCAAAGGTCTCTGACACACCCTGGAGACATTTTCTCCATTATCTTGGTGATTAACATTCGGCTCTTTGTTACTTATGCAAATTTCTGCAGGAGACTTGAATTTCTCCCCAGAAAATGGGTTTTTGTTTTCTGTTGCATCATCAGGCTGCAAATTTTCCAAACTTTTATGCTCTGCTTCCTCTTGAATGTTTTGCCGCTTAGAAATTTCTGCTAGATACCCTAAACCATCTCTTTCAAGTTCAAAGTTTCATAAATCTCTAAGGCAGGTGCAAAATGCCACCAGTCTCTTTTCTAAATTATAACAAGAGTCACCTTTGCTCCATTTCCCAACAAGTTCCTCATCTCCCTCTGAGACCACGTCAGCACTTCATTGTCCATATTACTATCAGCATTTTGGTCGAAGCCATGCAACAAGTCTCTAGAAAGTTCCAAACTTTTTCACATCTTTCTGTCTTCTGAGCCCTCCAAGTCTCTAGGAAGTTCCAAACTTTCCCATATTTTTCTATCTCCTTCTGAGCCCTCCAAACTGTTCCAACCTCTGCCTGTTACCCAGTTCCAAAGTTACTTCTACATTTTCAGGTATATTTAAAGCAGTGCCCCACTCTACCAGTACCAATTTACTGTATTAGTCTGTCCTCATGCTGCTAATAATGACATACCTGGGTAATTCATAAAGGAAAGGAGGTTTAATGGACTCACAATTTCACATGGCTGGGGAGGCCTCACAATCATGGTGGAAGGTGAAGGAGGAGTAAACGCACATCTTAAATGGCAGCAGACAAGAGCGTATGTGCAGGGGAACTACCTTTTATAAAACCATCAGATCTCATGAGACTTATACACTAGCACATGAACAGCACAGAAAAACCCAATGCCATGATTCAATTGTTTCCCACTGGGTCCCTTCCATGACATGTGGGGATTATGGGAGTTACAATTCAAAATGAGATTTGGGTGGGGACACAGTCAAACCTTATGTCAATGTCATAAGGTAGATTAGAGAGTTACCCATTATTCACCTTTACAGATGAGGCAATGGAGGCTCCCAAATAAATGACAAAGCAATTTGGCTGAGCTCACATAGTGACATTTGAGACATGAATTCTGGTCTTTAATGTTGCTTCCTGACCATTGCTCCATCTTTCTTTTATAACTCTGTATGATTGATGATTAATTCAGAATCTCCTGAAATTTCTCCTGAAACCTCTCCTTTGCCTGCCTCTTCACTTTTTCTGTGAAGAAACTCGCAATGAATGATGAGAACTTGCTCCCCATGCCTATATGCACCCATTTATTTTCTCTACTGAAATATAATTTTCCAATATGTAGACCCATTTATGGACAAATAGTAAACGACTCTCCCTCTAGTTTTGGTAACTCAACCCTAAACTATTTGTAAGCTTCAGAGATAAGTGTCTGAAACTTCAAAGTAAGCTCTTTAGAGTGGAGGCCCATAAACATAACAGTCTTGTCTAATCTGAAAAGTCCAGAGAGCCCAGTTGATAGCTTGGATTGCTTTCTTTTTTAAATGATTATTTTATTATTTTGAAGTTAATCTATTTTAAAGAAGTATTTATATGAGCTAAGAGCCAAGACTTAATGTATCTAGATATCTTTCAATAAACTAGTTGAATATCTAGTCATTGTTCAATTGTTCAAAGGACCTAAGTGATTATTGGCCTGCAGGAAGGCTAGTAATTACTAGGAATTCTAGCTTACTCCTTTTCCCATCCAAGAGAAAGAAGTCCTAGAATTCCTTCAAATGATGGGAGATTAAACTAACCTAACTGATTAATGTCAATGGTAATAAAAATTTGATCTTTTATTACAGCATAGTATCTAAGTTGGCTTTACAATGATTAATTCAGCAACAGTATTTTTCTGGCTCCAAACTCTGCATTCACAGTAGAAAGCAAAACCCAGCAAAGAGGTGAATTTGGGGAAAATACTCTGCAATGCCTTTAATTTTTTTTAATCTCAATTCCTTGGGAGATTAAAACTTATGTGATGAAATAGACTATTACAAATGAAATCAGTATGCTCAGACATGTTGCTTTTGTGAAAAACATGGGAAAATATGAAATATGAACTAGTTAATGTGTAACTAAAAATATGAGCCTTCAGCTGAAAGAATCTGAATTTTGGAAAGGACTCATGTCTTAATCAGCTCAGGCTGCTATCACAAAATATCATAGGCTTAATATAAATTTATTGTTCAAAGTACTTGGGACTGAGAAGTCCAAGATCAAGGTTCTGACAGGGTTTAGTTCCTAGCAAGGGCTCTTTTTCTGGCTTGCAGATGGCTGCCTTCTTGCTGTATCCTCCCATGACCTTTCCTTTGTGCATAGATGTAGTGGAGGGGGAGAGAGACAGAGGGAGGAAGGGAGGGAGGGAGGGGGAGGTGGAGAGGAAGAAGGGGGGTGGGGGGAGAGAGAGAGAGAAGGAATGCCCTCTTACTTTTCTTATAAAACCACTAATACATTGAGGGACCTACCTTCATGACCTAATCTAATCCTAATTAAGTCCCAAAAGCTCCACCTCCAAATACCATCACATTGGGGGATAGGGTTTCATTATATGAATTATGGGGGGACATAAACATTCAGTTCATAACACTGGCATAGATTATAAAGAGCTAACCAGATTTCCAGGAAGCATGTTTCTCTCACTTGAATGGAGATGAGGGCAGCATCTGCTACTGCTCTCCTGCTGGCTAGAAGGAAATAGATTGTGCTCATTCTGCAAAGAAAGAGTTATGCTTGCTGCACCTCAGCTTTCCAGCTCAGAGATTTGCTTCCCGGAGCCAGATGAGCCCCATGGCCTTTAGTGCCTGTCAAAAGACAGTACCTAGATCCTGACAAAGGGGCAGGAAAGCAAGGGGGAAAAGGATACCACAAAGTGAATTGTCAAGAATAAATTAAGATCTGTTGTCAGTCCCAGAACTAATTCCTAGGCTTTCTTTATCCCTGAATAAATAATAAATGACATTGATTTGTATTCTATGTAGCAACAGTCATAGTTCTACAATTATAGCAACTTGGAAGAGCTCTCTAAAGTTTATTATTTTAACTTTTAAAAATTTTTAATCTTTTATTTTTCCAAAAGCAATTTAATACAATTGTAGTTAAACAGTTTTCCCATTTTCTACATGAAAAAAAGCCAACAATAGCATATATACTAACTAAATTTAATTTCAACTATTTTTTCAGTATATCTTATTTATGAAGAAAGGCATTGTGTATTATCTTTAGTTAGATGATTCATGCCTACGTCAGAGTAAGTCTGTTAAAGGATATTATATCCCCTTGCAGATGAATCTGCTTTGCTCTATTTTCCTCTAATGGAGCTGAGGATTCAGGTATGTTTTCCTCAGATAATACTAATTAGAAGGAAAGGTTGGAAAATAAGTATTAATCTCTCATGTTCCCAATATACTCCAGTAGATAATCTGCCTGTGATTACAAGGTAAAATCACAGTTTATTTCAAGTTCACAACTATATAAAGGATAAGGATGTAGCATAATTGCAGGGTAAAAATACTCAGCAGTGTTGGGAATCAGATCCATATAGAATGGTATAGAGCAAGCTATCTGCCTTATGAGAGAAGAAAAAGGTACAGAGTCTATAAGCAATGATATTATTATCCACAAAAACTCTTCCTGAATCAGGCATTCTCAACTCTTGGCTGCATGTTAGAATTATCTGGAAAAATCCTAATGCCCCATGCCACACCCTATCAATTAAATCTGAATATCTGGAATTTGGGCCCAAATATTTGAGGAGCTGATTCCAATGTGCAAGTAAAGCTGAGAAACACTCTGCAATAGCTCCTCACTACAAGTTGCTTTTGCACCAGTCTGGCCTATTGGCACTTTTATAAATGCAAACAATGGTGGACACACTGATGGTCAAACTAAAAAGTCCCTCTGGTAAGTTTTCCTCTCAAGCTTAATCTTATGGCACAGAAGGTGAAAACGTGTTGGCGATTATCAGGGTAAGTCCACCCAAATCCTGGGATAAAGCAATTAGTTACTTTAGGCACAAATCATAATTTCTAATAATCTGTCTGAAGTTAGAAGAATATGAAAATAACACTTAATTTTAATTCTATAACATAGCTATCAAATTTTCTGTAGGTACTATATGGTTATTAGATTGACATTTCTGAAAATTTGTTGGAATAGCACATTTTTCTTCCAAGGAGATTTTACAGGACTTATTTATTCAACAGACATTTCATTGCGTTGTTATTATAATGTCAGCTCTTGTTCTAGGCCTTGGAAATGACATAAGGAATAAGACTAAGTCTATGTATATGGAGCTGATATTCAAGTTGAGCAAGATAGCAAGTCATTAGCATCCCTTGGCTTCTGCTTGGCATCTTATTCAGCCTCTTGCACAATTATTCTCAAAGTTTACTGTGCACAACAGCCACCTGGGGTACTAATTAAAATGTGGTTCTCTAGGTTCTACCCCTGAGATTCAGGCTCAGAAAGTCTAGGAGGGCATTCTAACAAGCGCCTTTGGTAATTCTCATGCAGGTGGTCCATTTATCACTTTGAGGAATACTAGTCTAGCATACTTGTCTGTTTCATTGACTTAGAATGAACACTATGGAATGTCAGGAGGATTACTCAGGGCTTATCTAATAGTAGAAAGATGAAATCTTAAAAGGATAACGCTTGCCATGTAGGTGAATGGCAGCTGTTGGAAATTACTTTCTTGCTTTTAGAACAGAAAATGTAACCTCTACAAGTAGGCAATCTTAGGAGAAAGTTTGACTGGCTACAGATTTGCTTATATTTATCTCAAGAGAGTTATTTAATTTACCCAGATCACCTCAAAATGTGGCTCTTTTGAGTGCAAAGGAGTGTCCAGTAAAATGTAAATCCACAATATTTCCGTGGATTTATATTTTCTTCAATTAATATGAAAATGAAGAAATAACACTGCATGTAAATCCACAATATTTCTGTGGATTTATATTTTACTGGACACTCCTTTGCACTCAAAAGAGCCACATTTTGAGGTGATCTGGGTAATTTAAATAACTATCTTGAGATAAATAAAATATAAATAATGAATTTATATTTTACTGGACACTCCTTTGCACTCAAAAGAGCCAGATTTTGGTGCTTTTGGATTTAAGTTTAAGTTTGGATTTAGCCCCAAAGCACACAATATGAGAAGGGCAGGAGTTAGTATGGGCCTGGGAGGTTATACTTAAAAGCCTTTGTAATTTTAATGACAATTAGGTCAGTTCATCTTGCTAGACTTTACTCAATCAAAGTTTGATTAGATGATTTCCTAGGTTTCATATAAGTAAGAATGCCTTGTGAAGGGTCAACCCAAATCTGCAGATTATGTCTAGCTAAAAATTTTTTAAAAAATGTTTTTCTCAGAGTTCCAATCTTGCATGTTTATCCATGTTTTCCGTAGGCACACATATGGCAACAGAAGGAAGTTTGAAGTGACAACAGACATTACCAAAACAATCTACAGTCAATCATTAGTAGAACTTGTAAAATTGGTCACTTACTCAATTGAACAACCTATTCCCTACAAGGGTGGCCAACTGCCCTGGTTTGTCTGAAACTCAGGGATTATACGGAATGTGCTAAAACCAGGAAGAGCTGGTCACCCTGGTTATCCACCAGCAATTTAAGAGGTACCTGCTGTCTTAGTTTGTAGTGTAGTTTAGGAGATAAAAGTAGCAGACACACAAAAATAATTGAAAAAGAATTCTGTGCTAAACTGGGTGATATTGTCTCCAAGTACAATAGGAATTCCGAGAAAAAAAGGTCAGTGTGGGCTGTAGTTGCTGCAGTTTTATAAATTAGGTGGAACAGGATCCCAATTTTGTGGCTTGCAGTTCTGCTTCCTTCTTTACAAGAAATGTCATCATCCTTTTCATGCTCAAGAAACATGAAAATGACCTAGGATAAATCTTGCATATCTGTCAGTCAGGGACAAGGAATAAGATTAGTTTAAAACTAAATTGACTTTAAAGCTTTGTCTCTTATTTAAATAATTAACATTTATTTATTCATACAATGATGAATGCCAGGAATACAAAAAATAAAATAAAATACAATTTCTGCCCTTGATGTGTTTATTGTCTAGTGAGGCACATATACATTAGTGTGTAAAAAGGTAAGTTCAAGGATATGTGAGGAGACCTGCGATAGAAATATTTGGAGAGTTATGGATACCTTAAAGAGAGAAATATGTGAGAAAGAAATTGGAGTTTAGTAAATAACCCTATCTTTTTCTGTGTTTAATATCAACATCTATTTCAGGACATTCTTAGTTTTAGGTCAGCCAAATGAAATAGCTTGATTGTAGATACTTTGTAGTAAAATAGTCATTTAATATGAAAATGAAGAAATAACACTGCATATTCTAAAGTTCTAATTACTTGGGTTTAGTTGATCAGATGGGCTGACTTTGCTTACCTTGGGGTATACTTTAATAAAGTCAGACAAACTAATCAAAAAAACAACACAGAGGTGTGACTATAGTTAGTGCGTTAGCAAATGCACAGGATATACATTTGGCAAGACTCAGTGCTGTCCCAGGAACCTGAACTTTGGAATTTCCTGAATTTGTGGGGCTTATGGTATTTAAGTGGAAGTTAGGTAGATAGTAAGCTGGCTTTTATAGTTCATCAGTAAGTTAAAACACAGAAAGAAACTCTTAAAAGGAAGAGGGCTATGTCTTTATGAATTATAGTTGCAGTTGCTAAAAATTGCAGAGAGAGAGAGAGGGAAGAATTATTATGTATACACACTGTGCTAGGTGCTGAACCCTTATTAAAGGTGAATAAGATCTAAGATCTGGTTGAGTCAAACATTGCTTGGTGTGAATGCCAGATATGAAAAACAAATACGATATTATTGAGAATAAAGAGAGGTAAGAAAGGGGAAGAAAAAGGATTAAATTAACATTGAGCTTGGAATCAACTAGCCTCATAATTCTAAACATAGAGTGGGCAATTAAATTTGGGAAGCAGATCATACAGTGGATAGAAAGACCATAAACATTAAATCCCACCTCACTGACATGCACAATATTTGTAATAATAAATAGTTGTCATAGTGACATCTAGATAAATATCAAAACAAAACCAACAAAATACCAAACAAACAGAAAATCAGACCAGCCCAGGAAATACAAAAACATCCCAGAAGTAGCCAATAGACAATTCAAGGCAGCTGACTAGGAAGGGTGGAGGGAACTCAGCCCTCTCATCTTTGAGTGAGATTTACTTTCCTAGGGTGCTCACTGGATCCAAGATGGTGCCCTGATTCCATCTCCAGTGTAGAGTGCCCATTGGGCACTCAGGAATTTGTCTTACCCCTGTGAAGAGCCTGGACCATTGGCATTGTGGCAGAAGAACAAGGAGACAGACAGAAGGGATCACTTAACCCAGTTGCTCCAAAAGCCTGTGAAATAAGAATTTGCCTACCTCTCTTCAAGGAAATTTTAGGACATATGTCCTCCTGGTGTGAGTTGTGGGTTTCCTATCCAAAGGCCAAATGCATGGGCTGGCTTTTGTGCACCCAGCCACATGCATAAGATTAATAAGTGTTTGCAGTCTCCCAAGCCTGGTGTGAAAACCACAAAGTAGGACATTGTGCCTTAACAGGTTGTACATGTGAGTTTCAACTTTACATTGATCTTCTATGGATAACTTTAAAGCTTTTTTTTTTTTAATTTGTGTTTCCAGTAGTCAACTTTGAAAAATATCATGATCAAAGGTAAGATGCTATTGCATGAAACATTTAAATTACATTTCTTGGAAACTGACTTTGGAGATTTGTTCCTTGATTCCAGTGTTTTAATCATCTTGCTCGGTGACCTGCTGCATGACTCATCCTGATCCCTAGAGGCTTTCTCTCTTCTTTCTACCTAGATGTTCAACTCTCTTCTTTCTACCTGGAAGTAGTATTTTGTTCATTGCACTTGGTAAGTTCGGACAGGGTCAAATCCTGCCTCTGCCAGTTACCAGGTCTTTCACTCTGGACAAATTATTTAGCCTTTCTGTCTTCTTTTGGGGATGTTAACAAGAATACACATCACAGAGGACTAAAGTAAGGATTGAAGAAGATTGTGTATGCAAAGCACTTAGCACTGTGCCTGACTCACAGTAGTACTCAATACATGCTATTTTTACATGCTTCTGGCACAGGCAGCCCTGACTTACAAATACCTGATTTACTGTGCCCTGTACACGTGAAGAGGATGAAACATTACGAAGGCACTCCAAGAGCCTGCTGCCAACACCAGAAACCCGACTGTTCTAGCTAAACCCCTGATTGCTTCTAAACCAATTACTCAGAAGATGCACAATTCACAGTTTCAGAATCCATATACAGTTCACCAGTCCTCTGTCTGCCTAACTCAATCTCATACCATCACAGAACTAGAACACTTAGATTAGGGCGTCTGGGGTCTATGTTTTTGGCATTCTGCCTCAGAATGAGTGTCCTGATGTTGATACCAGGAGCCAAAAATGCAAATTAAGAAGGGTGATCATGGACCAGCTTGTGGCCTAATGGGGCAGAGGTAACTAACATGTGTGGTCCCAGACTATTATAAGGAACAATTCAATTAAGCCCCAATATGTGCTTTCCAAACCCAAAGGGCACTATACCAGGCAAAGTGTCTTGCCCTTAAATTTGAAGGGGAGCGAAAAATACCAAACTGTAAAATATCTTCATTGGGTTTGTTCCCCTAGCTCCCTGCATTTGCATGAACATGCTAGTCAGTTCAGAATCCTGTGTTTATACCTTTCATTTGGTCAGAAAGATAAAAGATATAAAGAAAGTTTCCCTATTTCTCTTCCCAACTGGCTCCCTGTGTCTGAGTTCCAAGCCACAGCATGTGACAATGGGAAATCTTATCTGTTCCAGTTATTTGCTCTTTGTAGATCTAAAACAGTTTAAGTTATAACAGCATTCCCTAGGCCTTCAGCACAAATAATTCACACTTGCAACCACACTCACAGTTACCGCAGTGTGGTATCATAAAGACTTCAGTTCTGCAAGAGACACTAAATTTAATACCAGCCTTCAGGAGCCAAAAGCCATTGCTCAGTCCTTTGCAGAGAAACCGATTTAATTAAGATGTTTTATGTCCACTTTTACACTTTTAAATGTAGAAATCTAAACATCTATAATATTAAATAATTCTGTCTTTAGAAGCATATTTTTCTCAAAAAAAAAAAAAAAAAAACCAGACTGGCAGGTTTTCATTTACACAAAATATTCCAGCATCAAGAGCCTTCTCAATTAGTTGCCAGGCTTCACTTTGTCTCAGTAAATTAGCAGAATGTAAATGAGCCAAGGTCCATGAAAAATCTCCTCATTGATTGCTTCTCTTGGTTTTGCCTCAAACCCTTCAGGGCTCGAATATTTGACAGTACGCTTTCAACTTACACACTATTTGCATGAAACTGACAGAGCTTTAAAATTTTTTTTTTTAGTCAGAGTGCCTAGAAATGCTCACAATGCATTTTAACAAGTGATAGGCCAGTCTTTCTTCAGGAATATTTGCTTTGAAAGGGTAAGAAATAATTAGACTAGCATGTGCTATCTTTGGTGAGGGTTGGCAACTTAGAACTTGGGAGCTGTTGGCAGGCCCTGGCAGTCATTGTTGGTGTTGTGGGAAGCCTTTCCAGAAGTGTGTCCAAAAATTGTAAGTGGACTCGTTCTGACCTTTTCTGGCCCTGGTCCCACCCTGTTAAAACAAGGTTTTCAGGGTAGGATTCCAAAAGGCAGAGTTGAGGTAGGAAAGCGGGACAGGATGTCATGGAGTGGAAAAAAAAATCACCAATAGTCTAGGGAATTGGGACCTCATTTGAGTCCCGGTTCTGACACTATGTGACCTTGGACAAGCTACTATTCCTGACAACAGCTTCCCCTGGGCTGTGGTACAGAGAGATTGCATGTTGGAGCAATTCCTAGCACCCACCAGTTATAGCACTGTTACTTCTACAAAAGAAAACATATAGAAATGCAAGTAAAAGCTAGGTTCTTACAGAGATAACATGGAACGCACATAAATTTCTTTTTAGAAAAAAATTACTGGCAAATTTTGGTAGTTTATTATTAGTTATCCAATTATACATAACACCCCTGTAGCCCTGTGGCTGAGAGCCAATGATGTTTCACTCTCCAAATGTAATATTTAATTATTGGAAGACTTTTCTGAGAGTTACCTTGATACAGAGGTTTAACTAAAAAAGCAAAAGTTGAACTCTCTCATCTGTAAGTGGGAATCAGCAACAATGACTGCTCCATCCTCTAGGGTTTGCTGTGAGGAGCTATAGAATGTTGCTGAATATAAAGGGCTTTGTGTAAGTGGAAAGGGGGTATCCGTGCATAGATGCCTGGAATGCTGTGTGCAGGATTGGAGGCACCACAGAGAGAGCATGAAGGTATGTGGATTAACATCACGAGGCAGGATGGGAGAGACTCTTGCGGAGAGGCCCAGGGCCCACAGTTGCTGGCAGAGCTCCCAGCAGAAACCTTGGCATGCAGTAAGAGATCTGTAGGTATCCACTGAATGGATGAATGAGTGAATGTTTCAATGAGTAAGTGAATGAATGGTGGAACAAAACTACACAATAGGTTCTGGATTATGAGTTCCAAAACAATGGATTACATTGAAACTCCTATTTCACCCTTGAGCTCTGGTGCATGTGCTAGGTCTGAGAGGGATGGTTCCAGTGACAGATGTTTATGACCAGTCTCAGTAATAGGAAGCAGAGTGTAGAGATTTAGGGCAGGGGCTTTTACATCAGATTGCCTGGGTCCAAATCCCAGATCTACCATGAGCTATTTGAGATGCTCATCATTATCTCTAACACTTCTGTGCCTTAGTTTCTGTAATATGGGGAAGAAGATGGTAATGAAGATGATGAAGATGATGGTGACTACCTCATAATATTCTCATAAGGATTAAATGAGTCAGTACACACAAAGTGTTTAGACAGTGCTTGAAGTTCTCAAAAAATTTTAGTTATTGCATTTGGACAATGAAGTATCATTGGGACCTAACTGTTTGCACTATACTTATAAATATATATATACTACTTCTAAGCAGTTTCACTTGAACTTGAGTGGGAGTTCATGCCCTGGGGAATAAAAAGGCTTAGTATTTGAAGTCAGGGAAACAAAGCCTGAAAACTTGCTCTGATTCTTACTGAGTAAACTTGGACAAATAAATCATTTTTCCTTTTTGAGGCCCAATTCCCAACATGCAAAACAGGGAAAGTAATGATGATACCTTATATGGCTGTCATGAGGAGTAAATTAAATAATACATATGAAAGGGATTTATAAACCTTAAAGACTACTTAACAATTATTGTGGGAAGCAGCCAAGATGGCCAAAGAGGAACAGCTCCAGTCTACAGCTCCCAGCGTGAGCGACACAAAAGATGGGTGATTTCTGCATTTCCATCCTAGGTACCAGGTTCATCTCACTAGGGAGTGCCAGACAGTGGGCACAGGACAGTGGGTGCAGCATACCGTACACGAGCTGAAGCAGGGCGAGGCATTGCCTCACTCGGGAAGCACAAGGGGTCAGGAAGTTCCCTTTCCTAGTCAAAGAAAGGGGTGACAGAGGGCACCTGGAAAATGGGGTCACTCCCACCCGAATACTGCGCATTTCCGACGGGCTTAAAAAACGGTGCACCACGAGATTATATCCCGCACATGGCTGGGAAGGTCCTGGCAGCGAGACGCCCACGGAGTCTCCTGATGGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCAGCAGCGAGGCTGGGGGAGGGGTGCCCGCCATTTCCCAGGCTTGCTTAGGTAAACAAAGCAGCCAGGAAACTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCCGCAGACTTAAATGTCCCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGTACACAGCTGGAGATCTGAGAACGGGCAGAATGCCTCTTCAAGTGGGTCCCTGACCCCCCACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGTAGGGGCAGACTGACACCTCACACGGCTAGGTAGTCCTCTGAGACAAAACTTCCAGAGGAAGGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGACTCAAGACCCATCAGTGTGCTCTATTCAGGAAACCCATCTCATGTGCAGAGACACATAGAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAAACGACAAAGTTCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAAGAGCACCCAGATTCATAAAGCAAGTCCTAAGAGACCCACAAAGAGTCTTAGACTGCCACACAATAATAATGGGAGACTTTAACACCCCACTGTCAATATTAGACGGATCAACGAGACAGAATGTTAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCCAGCGGACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAGGAAACTCACTCAAAACCACTCAACCACATGGAAACTGAACAACCTGCTCCTGAATGACTACTCGGTACATAATGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGATACAACATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGTAGAGGCAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATAGAGAAACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATGCTACAAACACCTCTACACAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACACACACCCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCCGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGCTTACCAACAAAAAAGAGTCCAGGACCAGATGGATTCACAGCTGAATTGTACCTGAGGTACAAGGAGGAATTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCAGGCAGAGACACAACCAAAAAAGAGAATTTTATACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGGAGCACATCAAAAAGCGTATACACCATGATCAAGTGGGCTTCAACCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAACCAAAGACAAAAACCACATGATTATCTCAATACATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGTTGGGATGTATCTCAAAATAATAAGAGCTATCTATGAAAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGCTCTGGCCAGGGCAATTAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATTGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCACTCTTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGACACGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCATGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATTACTTTCTTCACAGAACTGGAAAAAACTACTGTAAAGTTCATATGGAACCAAAAAAGAGCTCTCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCATGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACAGGTACCAAAACAGAGATATAGAGCAATGGAACAGAACAGAGCCCTCAGAAATAATGCAGCATATCTACAACTATCAGATCTTTGACAAACCTAAGAAAAATAAGCAATGGGAAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTATACCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAACGTTAGACCTAAAACCATAAAAACCCTAGAAGAATACCTAGGCATTACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAACTTGACAAATGGGATCTAATTAAACTAAATAGCTTCTGCACAGCAAAAGAAACTACCGTCAGAGTGAACAGGCAACCTACAAAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAATGTGGGCGAAGGACATGAGCAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCGCCATCACTCGCCATCACTGGTTTGATTTGATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGTCACATGCGCACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAGTGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCACATATACAACATGGAATACTATAAAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAATCATCATTCTCAGTAAACTATTGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACTCTGGGGACTGTTGTGGGGTGTGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAGTATGGCACACGTATACATATGTAACTAACCCGCACATTGTGCACGTGTACCCTAAAACTTAAAGTATAATAATAATAAAATAAAATAAAATAAAAACAAGGAAAAAAAACAATTATTGTACTATTTTTCCAAATTTGCTTAACATTTGTATAATGGTGAAAAATTTTTAAGTGTTTTTACATACATTGTTTCAGATAGATAACTCGTTACTTTAGTGTTGTCGTAATTACGTATTATGTAACACAAAGTAATAAATTACCCTAATATAATTATATTGTAGGTGGACAGGCTCAGTTAGGTGGTTCTTATTTAGAGTCTCAAATAGGTACAGTTAGAACTTGGCTGTGGCTTGAGGCATCTGAATATTCCACCAGGCAATATTACCAAGGTGGCTTCTTAGGACACATTTTTTTTTTGAATTCTTATTTTGGATTTACAGGGTACATGTGCAGGTTTGTCACATGAGTGTTTTGCATGATGCTGAGATTTAGGGTGTGGATGATCCTGTCACCAAGGTATTGAGCACAGTTCCCAGTGGATAATTTTTCAGCACACACCCCCTTCTCTTCCTACCCCTTATAGTAGTCCCGAGTTTCTATAGTTCCCATCTTTATGTCCATGTGTACTCAGTGTTTAGCTCCCACTTATAAGTGAGAACATGTAGTATTTGGTTTTCTATTTCTGAGTTAATTTGCTGAGGATGTTACTGCACAGGACATGATTTTATTCCTTTTATGCCTGCGTAGTATTTCATGGTGTATACATACCACATTTTCTTTATCCAGTCCACCATTGATGTACACCTAGGTTGATTCCATGTCTTTGATATTGTGAATAGCACTGTGATGAACACATGAGCGCATGTGTCTTTTTGGTGGAATGATTTATTTTCCTTTGGGTATATAGCTAGTAATGGGATTGCTGGGGTGAATGATGGTTCTGTTTTAAGTTTTTTGAGAAATTTCCAACTGCTTTCCACAGTGGCTGAACTAATTTGCATTACCACCCACAGTGTAAAAGCATTCCCTCTTCAGAACCTTGCTGGCATCTGTTCCTTTTTCACTTTTTAATAATTGCCATGCTGACTGGTGTGAGGTGGTATCTCATTGTGGTTTCGATTTGCATATCTTTGATGATTGGTGATGTGGAACGTTTTTCTATATGCTTGTTGACTTCTTTTAAGAAGTATCTGTTCATGTCCTTTGTCCATTTTTGATTACTTTTTTTTCTTGTGGATGTGTTTAAGTTTCTTGTAGATTCTGGATAATAGACTTTTGTCAGATACACAGTTTGTGAATATTTTCTTATACTCTGTGTTGTCTGTGTAGGTTGTCTGTGTAGGTTGTCTGTTTACTCTGTTGACAGTTTCTTTTGCTGTGCAGAAGCTCTTCAGTTTAAGTAGATCCTACTTGTTGATTTTCATTTTTGCTGCAATTGCTTTTGGGGACTTAGCCATAAATTCTTTGCTAAAACTCATGTTCAGGAAGGTATTTCCTAGGTTTTCTTTAGGATTTTTATACTTTAAGGTCTTACATTTCAATCTTCAGCCCATCTTGGGTTAATTTTTGTACATGGTGAAAGGTAAAGTTTCAGTTTCATTCTTCTGCATATGGCTAGCCAGTTATCCCAGCACCATTTATTGAATATGGAGTATTTTCCTCATTGCTTATTTTTTTCAACCTTGCTGAAGATCAGATGGTTGTAGATATGTGGCTTTATTTTTGGGTTTTCTATTCTGTTCCATTTGTCCATGTGTTTGTCTTTGTACAAGTGCTATGCTGTTTTGGTTATTGTAGCCTTATAGTATAGTTCAAAGTTGGTTAATGTGATGCCTCTGGCTTTGTTCTTTTTGCTTAGGATTGCTTTGGCTATTTGGGCTCTTTATTGACTCCATACACATTTTAGAATATTTTTTTCCAATTCTGTGAAAAATGACATTTGTATTTTGATAGGAATGGCAGTAAATCTGTAAATTGCTTTGGAAAGTATGGTTGTTTTAATGATGTCAATTCTTCCACTCCATGAGCATAAAATATTTTTTTATTTGTGTTGTCTCTGATTTCTTTCAGCAATGTTCTGTAGTTCTCTTTATAGATATTTTTCACCTCTTTTGTTGTATTCCTAGTTACTTTAATTTTTTGGTGGTTATTGTGAATGGAATTGTGTTTTTGATTTCGCTCTCAGCTAGGATGTTATTGGTGTATAGAAATGTTACTGATTTTTGTACATTGCTTTTGTATCCTGCACATTTACTGAAGTTGTTTATCAGTTCTAGGACCCTTTTTCACAGAATTTTTAGAATTTTTAAAGTATAGAATCATATTGCCAGCAAGAAGAGAGAGTTTGACTTTTTGTTTTCCTATTTGGATACCTTTTATTTCTTTATCTTGTCTGATTGCTCTGGCTAGGACTTTCAGTGATATGTTGAAGAGAAGTGGTGAGAACAGGCATCCTTGTCTCATTCTAGTTTTCAAGGGGAATTGTTCCAGGTTTTGGCCATTTAGTATGATGTTGGCTATGAGTTTTCATAGCTGGCTCTAATTATTCTGAAGTATGTTCTTTGATGCCTAGTCTGTTGAGGGCTTTATCCTGAAGGGATTTTGGATTTTATCAAAGGCTTTCTTTACATCTATTGAAATGATCATATAGTGTTTTTTTTGGTTCTGTTTATTTGAATCACAATTATTGATTTGTATAGGCTGAACTACCTTTGCCTACCAAGAATAAGAGCCTATTTGATCATGGTGAATTAACTTTTTGATGTGCTGCTGGATTTAGTTTGCTAGTATTTTGTTGAAGATTTTTGTGTCTATGATCATAAGGGATATTGGCCTGAAGTTTTCTTTTTTCTCTGTGTCTCTTCCAGATTTTGGTATTAGGCTGATGCTAACCTAATAGAATGAGTGAGGGAGGAGCAATTTCTTTTTTATTTTTTTGAAATAGTTTCAGTAGAATTGGTACTAGGTCTTTTATATCTGGAAAAATTTGTCTTTGAATCCATCTGGTCCAGGGCTTTTTTGGTTGGTAGGTTTTTAATTACTGACTCAATATCAGAACTTGTTATTGGTCTACTTACATTTTCACTTACAGATTGTGTTTCCAGGAATTATCTATTTCCTCCAGATTTTCTAATTTGTGTGCATAGAGGTATGCATAATGGTCTCTAAGAATATTTTGTATTTCTATAGCACCAGTTCTAACGTCATTTGCTGTTGTGTTTATTTGAATCTTCTTCTTTTTTTTCTTTGTTAATCTAGCCATTGGTCTATCAATCTTGTTTATTCTTTTGAAAAACCAACTCTTGGTTTTATTGATCTCTTATATGGATTTTTAAATCTCGATTTCATTCAGTTATTCTCTCATTTTAGGTATTAGTTATTTCTTTTTTTCTGCTAGGTTTGGGGTTGCTTTGTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTAGTTTATCTAGGTATGATCAATTGGATCTAATATACATCTCCAGGATACTCCACCCAACAAACACAGAATATACATTCTTCTCAACTGCATACAGAACATATTTTAAGATTGACCACATGCTCAGTCATAAAGCAAGTCTCGATACATTAAAAAATCAAAATCATACCATGCAAACTCTTGGACCACAGTGCAATAAAAATAGAGATCAATACTATGATCTCTTAAAACTACACAAAACAGGAAAATTAAACAATTTGGTCCTGAATAATTCTTGGGTGAAAAATGAAATTATGGCAGAAATAAAAAATTCTTTGATATTAATGAAATAGAGACACAACTTACTAAAATATTTGGGATGCAGATAATGCAGTGTAAGAGGAAAGTTCATAGCACCCGATGCCTTCATGAAGAAGTTAGAAAAATCTAAAATTATTAATGTGGGTTCTTAGTCAACCTATCTGGCACCTGGGCCAGGAGGGCAGGAGTAAGCAGGTGGCTGGCCAGGCCTCCTTCTCTATGCTCCCTCTCTACATAACTAGCTTGGATTTCCTATGAGCAGAAAGCTTCAAGGTAGTCAGGCTTCTTACACGGGGGGCTGGCTCTGTCCAAAATGATTGTTCTAAGATATCAAAGGAGAAATCATAAGGCTTTTTATGACCGTTCCTCAATATCATTTTTCTTGAATTCTATTGGTTACCAGCGAGTTGTAATCCACATTCACAAAAAGGAGACCTATAAACTCATGGCAGAAAGCATGGTTCATTAAGGAGCCATCTTTGGAGATTAGCTATTATTTATTATACAAGTAATAGTCGTTTATCATATGACTCCCAAACTCAGGAGCTCATTCTACACAAAGTGCATCTTTTCTTGAATTTTAATTTGTTGGTAAGACTTGACAGCCAGCTCACATATATAAATCTTCAAAAAATTATGGAAATGCTAAAAATTAAGTTCCTTTTAACAACTCTTAACTTTAAGAGACGTTACTGTGTACAAAACATAATACATAAGAAAAACAACCCAGTCAAACCTGATTTCTTTATGACGAAGAGAAACTCAGATAAGTTTCAGACATTGTGTTCCTAATGCTGCCCAATAGCCTCAATCAGTGCTCCAGACTCTGGAGTTGCCCTTCCTTTGATCCATAAGGTACTGTGAAGCATTGGGACGCAGCAACTGTTCAAGGAATTTCATTATATATAATGCCACCTGAAGAAACTGTTCTAGTGATTGCCACTGCATTGTCATCAATTATAAATATCATTCAACCATCCACTTATTCATTCCGTTTTTTAACATGTAAATTCTTTTTTAAAATTTAATTTTTAATTGACAAAAATTGTCTATATCTAAGGAGTACAATGGGATGTTATGACATCTTTATATATTGTAGAATGATTAAATCAGGCTATTTACCTCATGTATTTATTCTCTGTAGTGAGAATGTTTAAAATATCCTCTTTAAGTAATTTTGAAATATAGTACAAGGTTTTAATTAGACAGGAGAAATAGGTTAATCTTTATTTCTTCTTTTATTCAGATCAATAGCTTTCATATCTGAGACACTGGTTTGGCATCATGTACCATTAGCCTCTGTGTTTGTGCAAGCACAAAGGCACATACATGTTAAAGTAAATATCTTAAGAATGGTTTCCAGAAAGAAAATAAGCTTAATAGAAGGATTAATTTTTTTAACCTCCTAATGTTTGTACTGTGAAACTTTTTCTACTTACTGTTCACATAACAGTTTCTGCTCTCCAGCTTCTAAGTCACTGTGCATGTCATACTTCAAAAGTCTAGCTCACTTCTTTAGTGGATTGTTCCTGATTATTGTAATTTGCAGTGATCTCACTTACCTCTTACACTTGTAGTATCATTTGTCTGTTCTATTCCCTGACACTTGCATAGTGCTTCATGTCATACCTTGAGTTCCCACATTTACTAAACTATCTATTAATACCTAAAGAACCTCCTCTATCACTCTTTACTTTTTTATCTTGCTTTATTTTTATGTACTGGATTTATTGATGCCAAACATGTGTTATATAATTTATGTACTTATTTGGGTTTCATGTATTTTGTTCAATGGTATATAAATACCATCAAAGCAGGAATTTTGTCTGTTTTATTCATTGTTGTATCTTTAGCACCAGTGAAAGTGTCTGATACAGTAGATAATAAATGTTTTGGGAATGAATAATTGTGTGGTGACTGAGTCTTCTAGGCCTGTGCATGCCCTTGGCATATTCATACCCAGAATTTGCTGGTGGATAAACAGGCACGTTGCTCATGCTTCAGCCTTTCAGTGTGCCAAATGGACAGTATGTCACTTCTATCCTATCTTGTAGAGATGCTGTGAGTATGACACTTGGGCTAGGAGGGCTGGAGTAGCTGGGGCTGGCCAGGCCTCCTTCTCTATGCTAAAAAGTGATCTTGAGTGGTGTCCTAATTCATTGATTAATAATAGCACAAGTGTTCCTGGGGTATAGTCACAGTTTCAGCTTGTAAATTGTTCTGTGGTTACTTCAATTAAAAAGAAAATGCATTTAATCATAAGCTACTTCATTCGAATGTAACACTGTGAACTATGTCAGATTAATTATCCCCTGTAACAGACAGAACAAATTACCCTTCACTGTTATCATCCCCCAGTGATCCTATTCCTTCCTGCTTTATACTGCTGTATATAATCTTGTAAAAATCTGTGAGCCTGGACAACATGGGGTACCCCAAATTCAACCAAGGCCACAGGTGTTGATTTTCTTGTCATTCTGTTCCTGCAGTATGGCATTATCACTCAGCTTTGAACTTCAGGAAGGGCAAGAGCAGTGTGATGCTGAGCAGGTGCTACAGTGTGGGCCAGATGCACCATTTGCAGCATCTGTGGAGCCCTAGACCCCCTAGGCCGTGGATTTCTGCAGACATAACAGGCTGCCTACATTGAAATAATTTCATCCAGGTATTTTATGTAAATTCTAAGCAGCAGGGCTCACTTTCTAAGATGTAACACTGGACTTTTCCCATCAGCTTTATGGTGAACCTGGGAAGGAACATTAAAAAACTGGGAGGCAGAGGAAATTAATTTTTGGAGGACTACCTTACCCTTTATAGCCTCATGCTCCTTTTCACCCTTGGGGTTCCCTTCTGATACTTATCTACCTCTATTTTTCATATTTACCTAGTCCTCTTTTATTCATTCATTCATTCACTCATTCATTCCTTCACTCAGCATACATTGATCAGATGCCTAACATATGCCAGGCACCAGGTACATGAAAGCACATAAGGATCAACAACTAGGACACAGCTCATGCCCTCAAGAGTTCAAAGTACAAGAAGGAGGAAATCTGTAGTGCTTCACTTTTCAAGGGACAACTTTCAACCAGTACTAAGCCACTCAGCTCATTCAGCTTGCCGCATGTGAACATACATGGTCTGATCTGAGCACTAGGTCTGAGCAGAGTCAGGGTAAGATGGTGACATGGGTGTAGGGAGCAGGAACAAAACAGCATGTCTTGTTTCTCAAGAAACTCATGGTCTAGAGGAGAAAAAAAGGGCTGTTAACAAAAACGGGTATAATGGAAGGGAGAGCAAGGTTAAGGTCAGCAAGAGAAATTTTTAAAATGCTATGGACATTCAGAAGGAGAGTTTACATTCAGGGTCTGAGAGCAGAGAAGAAAGACCAGGGAATGCTGCATGAAGGAGGCGCTAGTTCATTTGGAGGTTGAAGGATGGCTGGAATTTCTTCAGGCTGTTGGGGAGGACTTCCAGACCTAGAAAAAAGTGTGGCAGAGAGACAGCATATAATTTTTTTTAGCAAAGATGGCTTTACATGCCCAAGTGAGAGACTAGTGTTTCACTAACTTACAGAGAGGAGTCCCTTGAGACTTTTGAACAATTGACTTATGACTGATTGCTCAGAGCTGTTCTTTAAGATGAGCAGTTTTCAGTCTCGGGTGGGATAGGCTTGAACCAGATGAGTCTGGGCACCAGTGAGCAGGCTACTCTGGGAGAGATAATGAGGTGATGGTAATGGGACCCCTGCAAAGAGACAGTACTCAAGTGATGCTTATGAAGCTAGCATTTTCAACTCAATGAATGTGGGGATAGAAGAGGTGAGGAGTTAAAGACAGAGCTGCAGAAAAGGTTTTCTGGTAACACCAAAGGGCTTTCCCTGCCCACCTTGATGACACTGCATCTTAAGGAAGTCCTCACTTCAGTCTGTTAACCTTAGTTAACTCCTCATTGTGACCTTTGGCATTTTTAGTAACAGTTCTGATATCAAAACATGTGAAACATTATTCAATGGCTTAGATTTATTCACTGCTTGGACTCTACCAAAGCCTCTTTGAGTGATTTTGTCGTTGTTGTTTTGGACCTTTCATACTACTGCTTGCACATTTGCAATGATCTTGTATGTCCAGGAGATGCAGCCTAATTGTGTGGTGCCATCACTCACGGACCCTGGGATTCATTTCCCTCAGCAATGCATATGAGAGCAATCACTATTTCCATGCCATTCTCCTGTATCCTACATCAGGAAAGTGCTGTCAAGTAGATTTCTAGCAGAAGTTAGATGCTTTCCCATTGGTCCCCCTGCTCCTTTTGTGTTGTCCTTCTTGTGATCACAAATGTGCATGTAGGTCTGGCGAAACAGGACCAGAGGCCCCATGAATCCACAGAATATGGAAATTACTCTGGATGGGCCACCACATGATCTGAAGGGCAATTATACATCTTTATATCCTAAAATATCTCCCCAATAAACTTTTTATATGAGAACAACTCCATTATTCATGTATTCATTCATTAATCCATTCATCCATTCAACAAATAAGTGTCTCCTTTCAGCCTGATACTGACCTAGCATACACAATGCCAACATCTTAGCTGTTAAAACATACAAATACACAAATTCTTCATTACTAGTTTGTAAACAGCCATAACTCAGATCCCTCTGAGTGCCCACTGTTTTCTTCAGACAGTTCCAGGAGCCCCAGCCCTTCCTTGGGAATTCCCTACACCAACACACACACATATTTCCACAGAATCCCACAGCTAAAAGCTCAACCCCTCCTACTTGGTGGCTGAGGTGAAAGAATCACACAAGCCCAGGAGTTTGAGGCTGCAGTGAGCTATGATTGCACAACTACATTTCAGCCTGGGTGACAGAATGAGACTCCATCTCTCTAAAACAAGGAATAATGAATGAATGAATGAATGAATGAAGTACTTTTTAAAAGTCTTAATCCCCGTACATCTTTGCAGCCAGCATCTTTTCTGATTGGTTGGTAAACACTCTGCACCTATTGTTATATACTAAAAATAACACTCCTGATTTTATCCACTACCAGATACCAGATGAAAGATGAAATCCTAGAACCTTTGGAAGAACTAGGCTATGATCTTGACTTCATGTAGCTTCCAGTCTCTGTGGTATATTTGAGCAAGTGCATAATCAATTGGAATATATGTAGGAAAGGTGTGGTAGGCTAAATAATGCACCCCAGAGATTGTTCATGACCTAATCCTTGGAATCTTGAATGTTATCTTAAATAGCAAAGACTTTGAATGTGCTTAATCTTGATATGGAGGGATTATCCTGAATTAATCAGGTCCACCCTAAATACAATCATGTTTAGAGAGTGGCAGCGGAAGCTACAAACAAACAGAAGAGATGAGGCTATGGACCACAGAGCAGAGATTGGCAGCTACAAGACAGGGAATGCTGGCAGCTGCCAGAAGCTGGGGGAGGCAAGAATGCCTTCTCCCATAGAGCCTCTGCAGTAAGTGTGGCCATGCTGACACCTCGATTTCAACTTAATGATACTCAGTTTGGACTTCTGGTCTCAAGAATTGTGAGATAATGAATCTCTGTTGTTTTATACCACATAGTTTGTGACAATTTGTAGCAGTAGCCACAGGAAACTCATATAGAAGAGTTAAGTGGACCTCAAATAGAAGCAGAAGGTTCTATGGGTGGTAGAGAAGGGAGAACTTAGTTCTCTTGGGGCCATCTAAAAAGGCTTCAGAGAGGTAATGGCAATGGATCTTGGCCTTGAAAAATGAGCAGGAATTGTGTGTGCAGAGGTGTCTGACAGAAGTAACAGTGTGAGGAACCAGCAGTCCTTCCATTTGTCTGGAGTGCAGCTTCTAAGGGGGACGAAAGAAAGCAGAACAGAGTAAAACAATAGGGAGTGGTGGGGCCATATTGAAAAGAAGAGCACATGTCCTACATCTAGGGGTTAAAATTCAGTATAAACACAGCCCTAACTCTGTACTAACCAGAGTTATTACGCCTGGATGGACAAAGGGGTTAGTTGGGGATGAAATTTACACACGGAGAACGCAGAACACAGAAGCCATGTAGGATAGGCTGAGCAATTTGGCTAGGTCATGCACAGTGGTGGAATTAATTATCCAGATAGTGAAATGAAAAGAACTAGTCTTCAGGCGAGTCACTTCTATCTAGAAAAATATGTAGATGTGTGATTTCTAGGTCACTTTTGAAGAGTGTGTATTGGCTAGAAAAGAAAGAAGACTTTAGGAAAGAGAGCTTTCCATATAAGCACAGATTGGCTTAATGATTGGCAAATAGTCACCTTGAAAGTCCCAAGGGCTAGGTTTAAGAGTGGGAGAGAGTTGACACGTGTCAATGAGGAAGAGGCAGGATCTTAGATACGATTTTCTGTGAAAAGGCCATATGATCACATGGGGAGGAAAGGTGACAATAATAAATCAAGGACGCTAAACTTTACCCATAACAGCTGGGGAGGGCTGCTGACCATGCAGAGCCTTGGTTTTGGCCTCATGAGCACCTTATTACACTCCCCTGAGTTAAGCCCTAGAGACTCCATCCTTGGTATTTCCCCTATGCTTGTCCAAGGTCAGTAGATGTTTATCACAGTCAGTTAGAAATTTGTGTAGATGTCTCTATTTTCCAAAACAATGAGAAGGAAAATGGGGCTGACCCTATATATCTAAGTAAATTTTTTATTTATTTTAGAGTCCTGTCTTAAAGATTACATCTTACCCAAACAATTAAAATTAGTATGCTTGCTTATCATTGCCTTTCTCACCCACTTCAGATTGCAATGATGATTTTTATTAGTTGAATTTGGATGCTCTTAGAACTCATAATTGACTTTTAATTAAGTGCCAAACTATTTCCAACAGTTTTACATACCCTAAGGATTTCTGTCCCAATTCTAATTTACTTCAGATGCCTCCCAGCGCATGAAGGGATGCAGAAATGCACTTGAATGCAGAGCTGCGAGAAGAAATCATGGTATGCTTTTAAAAAAATTGTTAAAGAAAACCAATGCCTTCTTTTTAAAAGAATTGCTATGTCTTGTGCTGATGTGCATTATGTTCACAGCTACCCAGTAATTACTTCGGAGTCCTAGCTAAAGGTTTGATTCAAAAGTCAGATCTTAAAACAAAAATTATGTGTAGACAAAATTACCCTTGGCGTTCCTTGATATTGTCTTGAACAACAAGTAATAGTGACATGTAAGCATATAATACATATTTAAATTAACAGCATATAATCAAATGTCATTAGGCAAAATCTAATTCTGTAGTAAGTTTATGGTTACAAGAAGAAAGGTTCACAACTAGCTGGACAAGACACCAAACCATGAGAACTAAGGCAACGGAAGGAGCACAGATTAGCATTGTTATGTCTTCGAGGACACTAAGCACACTCCTAACTTAAGGCCATTGTACTGGAAAGGCCCTACCTGGAGAGCTTTTGCCTCCTCTGTGGCATTCTCCTGTTTAATCTTTCACATTTCCAGACAAATGTCATCTTATCAGAGAGGTGTTCTCTGGCCACTCTATACAGAAAAAGCTGCTTTATTTTTCTTCATTAGTTGGGATGATTAATAACTGGAGTGAATATAGAATGAATAAGTGATCTTTTCTAAGAGCATAATTAAAATTAGCATGTATCAGTAAAGGTACTTGCTAAGTTCTGAGTACAGTGAACCCAAATTTACTATTCCTTTTACTCATTCACTTCCTTGTTCCTCCATTCACTCAACAAGTATTTATCAAATACCCACTCTGTCCCAAGTGCTGTTCTCAGCAAAGGGAATGCAATGAAATAAACAAACAAATAAACAAGGTTCTTGCCTCCTGAAAGTAACTTTCAGTGAGGAAGACAAAAAGCAAACAAGAAAGAAAACAAGTAAATTATATAATGTCAAGTAGGGGCATTGTTTAAAAAAAATAAAGCAGAGTAAGAGTGTAGAGATGGGATGCTTGTCTGTTGGATGCCAGTATCTGTTTGGGGGTACAGAGAGCATCTATCTGCCTGTCTTGGGTACACTGGAGCAGATACCTGAATGAAGAATCTAAGTGAAGGGCCCAGTCATGGACCTATCTGCAGGAAGAGTACTAGAGGCCAAAGGAGGAGAAAATGCAAAGCATGGTCAGTGTGACTAGAGCAGCATGATTTTATAGGGAAATGATAGATGAGGCTGAAGAGGGCCAAGTGGTGAGGGGTTTGTAGACCATAATGAGGACTCTGTACTTTTTTAAATGAGATGGGAAAACATTGGAAGGCTTGGTACAGAAGTAATGTGATCTTATTTACAATTGTGAAGAATCACGTAGTTTCAGTGTGAGGAATAGACTCTTCAATGAGGAGCCACCAATGAGGAGGTCAGCACTTCACAGGAGAGATAATTGTGGCTTTGACTAGACTGGGAGGAATGAAGATGGTGAAAGTGGTTGGGCTGGGGCTCTATCTTGAGGACAAATCTCATAGGACTTTCTGTAAGGGTTCGCTTATATGTGAGAGAAAAAAAGGGAAATTAAAAATGACCCCGAGATTTCAAGCCTAAGGACCTAAATGAATGGTATTGCAAATAATGAGTGGGAAAGGCCTAGGTAAGTGCGGCAGGGAGGGGAGAAGTTAGAAATCAATAGTTTCATTTTTGATTAGCTATATTTGACATGTCAATGAACATCCAAGTGAAAGTCTGAGTAGACAGTTGGAGAAACAATTTCCAAGCTTATATCAGTGAGATTTATCTTCCTCAAATCTAAGTATTCTTTAATTATGCTTCTCAATTGCATATATAATTCTATAGCTAGAATTATAAATACATTTGATGGATCACCAATGCCTATGAATAAAGAATAAAGTAACACTTGCGTCCAAAGAAAATATAGGGACATTTACATTTTCAGTCTTATCCCCTATTGGGCCCTGCTGTGGATCACATATTCTATGGTACCTATGTGCCTTTTCTGTACCTTTCAGCTTTTTTGAATTAAGTTGTTCCTTTAGAGGCTCTTCCCCTCAGTGGCATCTATCAAATCAGATGCTACTTTCAATCTTCTTTCTATGTATCTCAAATGCCATCTCTTTCATTAAGCATTTTTGATTATCTCAAATGTCTATGACCTCTCATTCTCTTAATTTCTAGTGAACATCATTTTTTTAATGTCCAGCGGCCCTTTTCTCCACATGGATTTTTATTATAGTTACTTGTGTTTGTAACATTCACCTCCCTTATCAAATGCCTCATCTTTGCAACTGCACCAAACAGTCCCACTGCAGTCTTGGCTGCCAACAGCTCCTATATCATATGTCACATATATGTATTTCAGATATAGAATACTAACCTGTTAGGAGACTCCTTTAGTCATCTGGAACCCTTAAAATGGCTTTTCCAATAGATGTCAATCAGTGTTTAAATAGTTCCTGTTTGTAGGGTGCTTACTGTTCATCAAACCTATGCTGAATCTTTTACTTGTATCATCTTCTTTAAACCTTGTGGTTCCACGTAACAAATATATTTGCATACCCCTGAGGATAACCTATAATAAAAGTGCTTTAATGGTATAACAAAACTGAATTCTCTTTCACAATGATCCTATGAGCAAATGTATAATCTGGGGGCTGCCAAATGGCAAACTGTTTTTATTCAAATTTCTGAAAATATTTACTTATTAGAAAATTGTTATTTATAATTACTACAGTTATTAGGAAAGAAAGGAGGAGAAACTATCAGTTTTATGAATCTTTCATAGACTGCCTTTGTCACATTTGGCACTCTTGCTATGGGAAGCATGGTGAGGTTAACAATATTTGTGGAGTTTTAGCTTGTAACAATTTTAAAATTAGGAAAGTTTGGCTGTATTTCTCTGCATTTTTCTGCTTTTAGTCTACTCTAGACAGAACAACAACAGTTTGGCCAGGTGAATGTTACAAAGCTTGTTTGTGCTTTACAATGTACATTTAAACTTTAACCTGCACTTATGCTTTTAAAGTGCTGTAGAATTCGCCAAGTGTTTTTAAAGTACCGTTAATTACTTCAAATCATCTCATTTTTCCTGAGATTTGAACATTATTTTTATACTTTTACTTATGAAGAACTGTCAGAGAGATTAAATGTACTCATCCACAGCGCCATGGCTTGCAAATGAGGACTGGATCAATGTTCTCTTATTCCAAGCCCAGTACTGTTTCTACTGCAACATACCTGTCAATGTACCTACCAGGTGCATGAGAAGTGATGTATTTATCTAGGATTTCTTTTTAGTTTACGTTTTAAATTTCTCCTATATTTACATTTTACAGTAATTTTTAAAAGGCAATTCATGAACCTGGTTAAAGAAAATCCTGTTACAAATGATATACAGTGAAAAAGAAGTCTCTGAATTTGAGAATGCCACAAAGATAATCCTCCAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTTACCCACAAAGGGAAGCCCATCAGACTAACAGCTGATCTCTCAGCAGAAACTCTACAAGCCAGAAGAGAGTGGGGGCCGATATTCCACATTCTCAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCAGAAGTGAAGGAGAAATAAAATCCTTTACACAGAAGCAAATGCTGAGAGTTTTTGTCACCACCAGACCTGCCCTACAAGAGCTCCTGAAGGAAGCACTCAACATGGAAAGGAATAACCGGTACCAGCCACTGCAAAAACATGCCAAATTGTAAAGACCATCGATGCTAGGAAGCAACAGCATCAACTAACAAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCAAACATAACAATATTAACCTTAAATGTAAATGGGCTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCGGTGTGCTGTATTCAGAAAACCCATCTCACATGCAGAGACACACATAGGCTCAAAATAAAGGGATGGAGGAAGATCTGCCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACGGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTGCATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTGAGTGACCTACAAAGAGACTTAGACTCCCACACAATAATAGTGGGAGACTTTAACACCCCACTGTCAACATTAAACAGATCAATGAGACAAAAAGTTAACAAGGATATCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACATAACAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACACTCTTCTCAGCACCACACCACACTTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTGTCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGAATTAAGAAACTCACTCAAAACCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTCGGCACATAATGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGATACAACATACCAGAATCTCTGGGACACATTTAAAGCAGTGTGCAGAGGAAAATTTATAGCACTAAATGCTCACAAGAGAAAGCAGGAAAGATCGAAAATTGACACCCTAACTTCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAAGCAATGAATCCAGGAGCTGGTTTCTTGAAAAGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGTGGATGTCACCACCGATCCCACAGAAATACAAACTACCATCGGAGAATACTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTTGACACATACACCCTCCCAAGACTAAATCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGAGGTAATAATTAATAGCTTACCATCCAAAAAAAGTCCAGGACCAGACGGATTCACAGCTGAATTCTACCAGAGGTACAAGGAGGAGCTGCTGCCATTCCTTCTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCGGCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCGCCTGTGGTCCCAAGTACTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGGGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAGAGAAAAAGAGAAAAAGAGGGAATCCTCCCTAACTCATTTTCTGAGGACAGCATCACCCTGATGCCAAAGCCTGGCAGAGACACAACAAAAAAAGAGAATTTTAGACTAATATCCTTGATGAACCATCAACGCAAAAATCCTCAATAAAATACTGGCAAACAGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAACATATGCAAATCAATAAATGTAATCCAGCATATAAACACAACCAAAGACAAAAACCACATGATTATCTCAATACATGCAGAAAAGGCCTTTTACAAAATTCAACAGCTCCTCATGCTAAAAACTCTAAATAAATTAGGTATTGATGGCACGTATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACGAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATAGTGTTGGAAGTTCTGGTCAGGGCAATCAGGCAGGAGGAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTCCAAAAATCACAAGCATTCTCATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGAACTACAAACCACTGCTCAACAAAATAAAAGAGGATACAAACAAATGGAAGAATACTCCATGCTCATGGATAGGAAGAATCAATATCGTGAAAATGGCTATACTGCCCAAGATAATTTATAGATTCAATGCCATCCCCATCAAGCTACTGATGATTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCTGCATTGCCAAGTAAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTATCAAAACAGAGATATAGACCAATGGAACAGGACAGAGCCCTTAGAAATAATACCACACATCTACAACCATCTGATCTTTGACAAACCTGACAAAAATAAGAAATAGGTAAACTATTCCCTATTTAACAAATGGTGCTGGGAAAATTGGGTAGTCATATGTAGAAGGCTGAAACTGGATCCCTTCCTTATACCTTATACAAAAATTAATTCAAGATGGATTAAAGACTTAAATCTTAGACCTAAAACCATAAAAACCCTAGAAGATAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAGAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTCCAATCTAGTCATCCGACAAAGGGCTAATATCCAGAATCTACAAAGAACTCAAACAAATTTACAAGAAAAAAAAAACAAACAACTCCATCAAAAATTGGGGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCCCACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGATCCAGCCATCCCATTACTGGGTATATACCCAAAGGACTATAAATCATGCTGCTATAAAGTCATATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAGGCAGCCATAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGAGAAAAAACCAAACACCGCATGTTCTCACTCACAGGTGGGAATTGAACAATGAGAACACTTGGACACAGGAAGGGGAACATCACACATTGGGGCCTGTTGTGGGGTTGGGGTAGAGGGGAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGGGTTAATGGGTGCAGCACACCAACGTGGTACATGTGTACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACTTAGAGTATAATAAAAAATATATATATATAAAATAAATAAATGAAAAGAAAAAAAAAGAAAAAGAAGTCTCTTCCTTCCCAGGCCCTATCCTCTTAATTCCTCTTCCTGGGAAAGACTACTTTGGTACCAGATTTTTGGGTATTTTTAATAAATATTTTATATATTTATAAATATGTGAAAATGTTTTATTATTTTTCATATCAAAGTGATTTTTTAAAATATTAAGCGTGCATACTTTAAGACACTTGTTATAATTCAAATACTATATAAGTTATCATTGGAAGTCCCAATAACTTTCATAAATATCCCTTGCTGAAATGGGGGAACCTTTAGTTACCAGATAGGAAAGTACCAGCAAGGACAGCTCAGAATGTGACACCACAAGTATACCTGGAACTTTCCTTGTCTACTCTGGGACTGGGCTTCTTATTGAAATATATAGTATATTTTGGTTTAAGTTTAAAATTTTTTATTATATAGGCACATAAAGTGTCAATTCACTCTACAAGATTGTTTAAAAAAAGAAAATAGCACAACTGTCTTTCCCCTACTTACCTCTTCCCAGGAGCAACCACTTTCTTCTCTTTTAGTTGATTAGGTCTCTTAAAAAGATGTTTGCATTGCTACTTCGCTAACACCTTTAATCTTCCCTTTAGTTAACAATTTTTTGCCCGTTTTGTTTATTTTTGCTTATTTTCCCACAGACAAGTTACTTATCCACTCCCCTACTCCTTGCTAAGCTCCTCTGAAAATATTTAGAGATGTTGATTAAATTTTACTTCCCAGAACAGTTTCTCCCGACCTGCTCCATCCTGGCTTTGTCTTTGGGCTTGAGGCTGAGCTGCCATTCTGGGAATTCTCATGATAATCCAGAAGATTCTCTGCCTTCTTGCCTATGTTGTATTTTTTCTTTTCTATATCCTATGTCTCCCACTTATTGTCTTTCCACTTAATTTCCTGGGATGGAACACATTCTCTATTAACTTTCTGAGAAAGGATTCAGGAAGGCAATTTTGTTGGAGACTTTGCATTCCTCAAAAATTATGTATTCTACTCATCAACCTGATTAAAAATTTGGCTGGCTATAGAATTCTAGTTTAAAAATAATTTTCTTTCAGAATTTGAAGGCATTTACCTACTGCCTTCTAATATTTGAGTGTGCTATTAAGAAGTCTGAAGTCATTTTAATTCCTGATCATTTGCCTGGGGCCTATTTTTTGCTCTTTGAAGGAGTTTTCTTCTTTTCCCTGTTGTTTGGAAACTTCATGATGATGTGGCTCAGTATGGGTTTATGTTTATTCACTGAGTTGAGCAAACAATGGGTTCCTTAAATCTGGAAATTCTTGTCCTGTAATTTGGGAAAATATTCCCTTTAAATTTTTATTTTACATAGTATAAAATATTTATTTTATGATTTCTTATCCTCTGACATTATTTTTTCTTTTATAGTCATTTTAGTGAGATTTTAGAGGGCAAAGTTAACGCTATAGTCAAACTGTCTTCTTTATCCAGAAGTTGCAATTCTACTTTTATGAATTTTTTCTCTTTAGTAATAATTTTTTACTAAAATGTATTAGTTATAAAATTTTTGTAGTAATAATTTAGTAATAATTTTTTCTCTTTAGTAATAATTTTTGTATGAATAAATAATTCCAAAATATCTTGGCCAATGTTATACCTACTTACAGTATTGTTTATGTTATAGAGTTTCCAGTAAAGACATAAAATTTGAGGTAAAATTGTAAACGTGATACTAAAAGATGGTATCTTGACATGGCATTAACACAGTGATAGAAAGAAGACTCAGGAATACCCAAGTCTTGCCTTGTTTTAATCTTCCTTCCTGTATAAGAGGTTCCTGAAGGAGATTCGTGCCCAGGGGAGAAAAAGAAAGTAAAGGTGATATTTTGTTATTAATTAGAGATTTGGTCCCAGATCTTTAAGTTGAACTTTAATAAGAGAGGCTAGAATACAGGAAAGACACATTCTTCCTTATCTAACTAGGGTTAACTACCTAGAACCAAAGAAGGCCATGGTTTCCAACTTGATTAATTATAAGATCACACAGGAATCTTAAATTTCACTATTGATGTATGGAAAAAAAGACAAATCCAGAACACTCCCAGAATAGCACAGAAAAGGCCAAAACAGATAAATGTTGAGAGAAAAAGTTTGTCCAGGACCTACAGCATAGCTAGTTATGGGAATAGTCCCAGAAGAGGTGCATTGTGAAAGTACAACAAAGAATGAAATGGAAAGGTGAAGAAGTTGCTTCCAGTGTCCCTGGCTACCATTTGCACCATTTTGCTTTACTGGGAGGGAAGAGACAGAGAATGGAAAAGATAATTTTTAAAATATCTTGTTTTGTCAAGTAAGAGTGAATCCCTGAGAGAGAGGCAGATGCCATCACTGGCACTGTCACCTAATCATTGCCCTTCAACTTCCCAAATCCTTACTTCTGATAGAGATCCATGCTTGCAGGACTTAGGATGGTGGCTAGGAGCACAGGCCTTTGGTTTTGTCCCTAGTTGCCAATATTTTAAGCACAGTTATGATTTAGTAAGAAGCAGTTTTCAACCTAATTATTTCTCTTTTCTCTATTTCTTCCTCCAGATCTAAATATGGCTTCACCTCTCTCTGGTCAGGGGCAATTAACATTAGGTTAATTCTACTTTTATGAATTTTTTCTCTTTAGTAATAATTTTTTACTAAAATGTATTAGTTATAACATTTTTGTAGTAATAATTTAGTAATAATTTTTTCTCTTTAGTAATAATTTTTGTATGAATAAATAATTCCAAAATATCTTGGCCAATGTTATACCTACTTACAGTATTGCTTAACTGTAAGTTAACAATGACAAATGACAAATGAACTTATTGTGTATAGCAATCATGATAATATTTATATTTTAGAAATGACCTCAAATGCGAGGGAGAAAGAAACAAGGTAGAAGAAAGGAAGGAAAGAAGAGAGGAAGGAAGGAAGGAAGACAGGCATGCCAGTAAACATGTATTGGGCACTTGCTATACACCAGGCACTGTGCATCTTGGTTTCACAAATCTCTCAATTAATCCTGACAACATTAATGAAAAAATAATAGCCATATATATATATTTATATATATAAATATATAAATAAATATATATAAATATATTGTCACCCAGGTACTAAGCAAAGTACCTGACAGTTATTTTTCCTGATCCTCTCCCTCCTGCCATCCTCCTCCCTCAAGTAGGCTCCAGTGTCTGTTGTTCTCTTCTTTGTGCCCATTGGTTCTCATTATTTAGCTCCTGCTTATAAATGAGAGCATGTGATATTTGGTTTTTCTGTTCCTACACTAGTTTGCTAAGGATAATGGCCTCTAGCTTCATCCATATTCCTGCAGGGGACATGATCTTGTTCTTTTTTTATGGCTGCATAATATTTCATAATGTATATGTACTGCATTTCTTTATCCAGTCTACTGTTGATGGGCATTTAGGTTGATTCTGTGTCTTTGCTCTTGTGAATAGTGCTCCAGTGAACATACGTGTGCATGTATCTTAATGGTAGAATGATTTATATTTCTTTGGGTATGTAACCAGTAATGGGATTTCTGGGCCAAGTGATAGTTCTGTTTTTAGTTCTTTAAGGAATCACTACACTGCTTTCCAAAATGGTGGAACTAATTTACATTCCCATCAGCAGTGTATAAACGTTCCCTTTTCTCTGCAATGTCACCATCATCTGTTATTTTTTGACTTTTTAAAAATAGCCATTCTGACAGGCGTGAGATGGTATTTCATTGCAGTTTTGATTTGCATTTCTCTAGTGATATTGAGAGATTTTCATATGTTTGTTGGCTGCATGTATGTCTTCTTTTGAAAAGTCTCTGTTCATGTCCTTTGTCTACTTTTTAATGGGGTTGTTTGATTTTTGCTTGTAAATGTGTTTAAGTTCCTTACAGATTCTGGATATCAGACCTTTGTCAGACGTATAGTTTGCCAATATCTTCTCCCATTCTGTAGGTTGTCTGTTTACTCTGTTGATAGTTTCTTTTGCTCTGCAGAAGCTTTTTATAATTAGATCTCATTTGTCAATTTTTGCTTTTGCTATAATTGCTCTTGGAAAAATAATAGCCATTTTTATGAGTGAGGCAATTTACCATCTGGTGAGGATCAAGGGATTTGCTTAAGGCCTCATGGTGAATCTTGATACCAAAAGGGGAAACTGAAGCAGGTGTTCTTATATGTGAACAAGATCAAAATAGTAAAGGCTATTATTGGAAATTTTGCTTTACTAGAGATTGTGTCTGCCATGACTCTGTAATAGAACCCTCCAAGTCACAGACCTGTCTCCAGGCACTCAGAATCTTGGGTCTAGAGCAAAACAACTCATTCCATTCATAGGTGGAATGAAGGCTCCTAGTCACAGGTCAGGATTAGACCAGGAATGGGTGGGTCTGAACCAACTCAATTTAAAAGTCTCAAAGATGACTGCTAAGTGAAACTAGAGAGTCAAGTCTAGTAAGTGAAATTTTTTCAGTTGAAGAATTTAAAGATGGTGTATTTCCAAGGAATGAAAAGATACAGGCTATGGTCATGTTACTAGATTTCTAAACTGAAGAGGGCAAAATGAAAAATAAAATCAATGGATTGTGAGCTTAGGGTTCTTCTGGTTATATCATTCATTTCCCCAACTCAGTTGAGTTCAACACACATTTAGTGAGTCCCTGCCATGCAATAGAATTGTGTCCTGTCCTAAATAGCCATTTCTGGCTATTATTATTACATCTGAAGATACAAAGGTAAAGTAGCGTTCCTGCCCTTTATGGGTTTGGCCTAGTCTATTGGTTTCCAAGCCTGCCTGTGGGGCAGAATTATCTAGAGAGCATCTTTTAAATCTCCATCCCAAAAGATTCTTTCAGAATGTTTGGGGTGAATCAAGGGATTTTGAATTTTTAACAACTTTCATGGGTGAGCCTTATGTACCTTGTGCATTTCTAGCCCATAGCAAGAATTTGGGCATAAGTGATCTCATTCAGTTGAACACTGACATAATATAGGATGATGGAGAAGAAGACTGACTTCTTCAAACATGTAATTCTTGAATATATAGAGAGAGTGAGCAGTAGGTTAGAAGGGGGCTTGGAACAAAAATGGGTAGGGGGATCATTGGTTGATCTCACAATGAGGGTGAAGGTGAAGGAGTGTGGAAAGCAATGGTCTGGAAGTCACAGTGAGATTCCAGTAGGACAGACACCCCCAACACAGAGGGAGTATGGAAACTGAAGCCATAGCCATTGAAAAGGCTGTAAGGAAAGCACCATCGTTGGAGATGCCAGCTTCCTGGTGAGGCATGGAAGTTGTGGGGGGAAGTAGCAATGTGGGGAATAACTTTGGAAAAGCAGTCAAGAAGGGCAGCAAGAGGAAAGTGTGAGGAGTGCAAATTAACAGGCACAAGATAGGCCAGAGAAGGTGATAGCCTGATTAGCCAGGAAATGAGTTTGGGAGAGAATGGGTGTACACTTTGTGTCATGACTGTGGAGGACTGAGCTAAGGGAGGACAGGGTCTACAGGTAGACAACATAATTTGCCTGTACTCTGTGTACTGCCACCCTTCCTCATTAAGCACATAGTTTACAGGCCACCTTATTTTTTATGAATCCCTAAGAAGTGAAATGCTTTTCCCAGATGTCCCAGCAAATTTATTCCAAGATACTGAAGAAACAAGACAATTCTCCTTTATAGAACCAAGCCTATGTCCTCCTCGAGTCCTTTTATTATTATTTTTTGAGATGGAGCCTTATTCTGTCACCCAGGCTGCATGAACTCGGCTCACTCAACCTCCACCTCTCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATGGGCATGCGCCACCAGGCCCAGCTAATTTTTGTATGTTTAGTAGAGACAGGGTTTCAACATGTTGGCCAGGCTGGTCTTGAACTCCTGGCCTCGAGTCATCTGCCCATTTAGGCCTCCCAAAATGCTGGGATTGCAGGTGTGAGCCACCATGACCTGCCTCTCTCTCCAGGCTTCTAAGGGGTTTGATAACTTGACATTAAGAGAAATAATAAAGCTGTCTAACGCCTTGATATGCTGTGCTTTTCTTGGTAAAAATTAAAGGGAGGCTGGAAAACCTTTACTAAAAGAAGACAACTTTGCCTAAGGTTTTTTGGCTGGCAACAACCCCAGGACTTACATAGAAAGGACAGACTGTCAGCAGGCTCATGGAGAATTCATTGTAATTAGTTCTTAAGCAGCCTGATCCCTTGGTAAATTCTGGAGTGAACTCAGTTCAGGAGAAACTGCAACAGCAAATTAGGAGTTAATTGAATGTCATTCATTTCCTCTTTCTCAGCTGCTCCAGGGCTATTTATGCAAACTTTTCCTGGGGGAGCCTACCTCTATTCTCTGTAAAGTGTTAATGACAACTTTCTTTGAAGAGCTCTTGCTATTTGCTTGTTCATTCCATGCTTTATTATTCTTTCCATAGGGTGATTAGCAGATAAGTGGCATTTCTGTTCCCTCCCCAGGCAGTAGCAATAAAATCTCCTATCCCACATTAACATCATGATTTATCATTGATATTCATATCACAGACATGAATTGGGAGTCAGAGACACGAGCTTGTATTTGAGGTCTGCCACTTCTAGCTATGTTACTAGATTAAGTTACATAACCACTCTGAGCTTTATATTTGTTCAGTGGTTATATGGAAGCATAATCGGACCTACTGTTTGGTTGTTGTGTGGATTGAGTGACATGATGCATGCAAAATGCTTAGCAAAATGCATTAGTCTCATTAGTGTCCTAAAAGTGGTAGCATACTTTAGCTTTACAATCATTATCTTACATAACTATTATTTAATTATTATCTAAATCAGCCTTATAATAATCTCATGAGGTAGTCAGGATAGTTCTCATTCTGGCATCATTCGTAGCAAAGGCAGGGGATCTATAGGAAAAAGAAAGCACATGAATAGATAAATGTATAACATCTTATTTCCTACCTTATTTCAATCAGAGGAGGTGTAGAACTAAGGAACCCAAGTAAGGTCTCCGACAACTGTTTCACCCTGCCAAATCTCTGTATGCCTAAACCCTGACATTCTTCTTCTGTCCCCTAAGCCAGGACCCACCTACACCCTCTACCACTGGCTTGGAAATTTAGTCTCCTGCCTACTTTTTGCCAGGATCGTTTTTTGGAAATAGATTCTACTCTGTACTAGCAGCACACAGGGTCCCCATTCTAGCTGTTGCTGGATTAGGAATATTAGTGTTACACACCTGGTTATTGCATGTAGAAGTTTAAGACTGGATGCATAATTTGTGGGGCCCAGTGCCCAAGGAAAACATGGGACTCCTTCTTCAAAAAGTATTAAACATTTCAAGACAGGGACAGCAGAGCATTAAACCATGCACGAGGCCCTTCTGACTGCAGGGCCCTCTGTGACTGCCCAGGTTGCTCACCCAGGAAGCTGATCTTCAATTTAGCTGAAGATCTGCAATTTCACTTGTAAAGTGTTCCTTTGAAATTGCTTACTTCATTCATTAATCAATTTATTCTTTTAACAAATATGTTTCTGAGCTGCTGCTATATATATGTCACACATCAGTCTAAGTCTGAAGATATACCATTAAAAAAATAAGCAAGGTTCCAACTTTCGTGATATTTACTATTATAGGTCACAAGTTGGAAAACTATAACTCATGGGCCAAATCTGGCTTGCCACCTGTTTTTGTACCTCCCACAAACTAGGATTTTTTTTTTTTCATTTTTAAGTACTTAAAGGAATTTTTAAGCTAGGCTTGATGGCTCATGCCTGTAATCCCAGCAGTTTTGGAGGCTGAGACAGGCAGGTTACTTGAGGTCAGGAATTCAAAATCAGCCTGGCCAACATAGCAAAACCCCATCTCTGGTAAAATACAAAAATTAGCTGGATGTGGTGCTGTGCACCTGTAATCCTAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGTGCCCAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCTTCTCAAAATAAATAAATAAATAAATTTTTTAAAATAATACTTTGTGATGTGAAATTTACATGAAATTCAAGTTTTATAAAATTTGATCAAATTTTATAAAAATTGTTCATAAAGTTTTATTGGAACACAGCTACACCCATTTGTTTAAATATTGTCTATGGCTGCCTTTGCAAAACAGTGGCAGAATTTAGCAGTTCTGACAGAGACTGTTTGGCCTGCAAAGTCTAAAATATTTACCATCTGGTCTTTACAAAAAAAAATGTTTGCCAGTTACTATTGTAGGGGTGCGAGAGACTATAGACAAGTGATAAATTAAACAAGATAATTATGAATTCTGATGAGGACTCTGAAGGAAATATATGGGTGATGAAATCTCATTCCTACCTTTGAACAGGGCAGGAAGACCCTTTGGAGGAGCCGATAATTGAATTGAGTCCTGAAGGACAAAAATGTGCCAGCCATTCAGAGTGCCAGAAAAAAAAGCCTTCCAGGTAGAGGCAACAGTGAGATCGATGGCCTAGGGGTGGGAAAACTCCTGGTTTATCCTATGGATAGAATGAGGTCAACATGGCTGCAGCATCTTGAGAAGGTGGGGAGGATACAAAGTGAGACAGAGAGGTAGGCAGGATGTATGGCTCAGGATCTGAGGCCTTGGTAAGGAGTTAGGGCTTTACTCTGAGAGCAAATAAAAGCTATTAAAGGATTTTAAATAGGGAAGTGGTTCAATCTGATATAAATATTTTTTTGGAAGTCTTCTCTGGCTGTTGTGTGGAGAATGTGTTTTAGGGAGGACAAGAATGAAAGAAAAGAGACAAAATTGGACACTATTAGAGTCCAGGAAAGAGATGAAAGTGGTTTGGATTCAGGTGGCACTGGATTTGGAGAAATGTAGAAGACTTTGGGATATATTTTGAAGGTGGCACCTACCCAGCTTGGTGATAAACTGGCCTAGGAACTGAAGAAAAGGGAGGTTTAAAGACTGTTTCCTAAGCTTCTAACTTGATCAACCGAAGGCTTATGGTGGCACCATTAACTAAGATTAATTGATTCAGTAAATATTTATTGACTGCCTACTACATTATAGTCACTCATCTAGGATATAGTAAATAGCAGTGAACATAACAAAAGAGGCCAATAATCAAATATACACATAACTATATAAAATTTGAAAGGATGACAAATGCAATGGAGAAAACTGAAGGAGAGATAGAGGGAGGCGAAGGCCATGGGAGATTTTAGAGGTAAGAGAAGGTGCCTGAGTATAAAGCAACTCCAAATAGAACTCGACTCCAAGTAAAAGATGATGTTTCTATTTTCCCAGTTAGAATAACCACTCCCTTCAAAAGTTGTCTTTGGCTAATTCATACTATTTAATTTAGTTTAACACATATCTTTAAAATCACATATTACATAAACTAATATAAATATAAAAGTATACCTTTAAAATAAATTACATTAAATTTACCATTTTCTTCACTATGTCCATGTCTGTTTTTTAAATTTTACAGAATCAAAAAATTTAATGTATAGTAGCAATATTAATCATCATTACAGATTTGGCTTGAGAAGTATTTCTCAAAATCTGTAAAGACCTGAATGTAAAGTGAATTTTTTTATTTTTCTAAAATATGATTTGGGATAATAGCTAACTAAATGAACGAATGAATGAACCAATCAACCAATCAATCAATCAGTCCTTACCATGTTCAGACTCATGCAATGCTCATCCAGGAGAGTGGAAAAGCACTTACTGGCAGAGCAGAGGAGGAGGCCAGGTAGCAGAGAGCGCAAGCATTCCCCTTCAGATGTCAGAATACATAAAGGAGATAGAATGTTATCATTTCTATTCTATCTATTCATTTTCTTTACTTAAAAGATCAAGAAGCAGAGAGAGAGAAATGGGAGGTAGGGAGAGAATTTAAAAATACATTGGAAAGCCCAGGCGTGGTAACTCACGCCTGTAATCCCAGCACTTTCGGGAAGTCGAGGTGGATGGATCGCTTGAGTCCAGGAGTTTGAGACCTGCCGGGACAACATGATGAAACCCCATCTCTACAAAAAATACAAAAATTAGACAGGCACAGTGGCATGCGTCTGCAGTCCCAGCTACCTGGGAGGGTGTGGTGGGAGGATTGCTTGAGCCTGGGAGGTCACGGCTGCAGTAAGCCATATTCGTGCCACTGCACACCAGCCTGGGTGAAAAAGTGAGACCCTGTCTCAAAAAAAAAAATGCATTGGAAAACTTAAAAATGTACAAGGAAGTTGACATATATTTCCTTTAACTCTTTTCCCGTTTAGAAAAAAAGTGCAGCTCACTGCCGGCGCACACTTAATTTTACATGAACACGCTCGTTGAGGCTGAAGCAAATCTGACTGATTTTCAATGTGAAAATAAAATATTGTTCTTGGAGTTACTTTTAAACAGAACTAACATAAGAATCATCTGAATCATCAGAATCATCTATTTCAGAAAAATTGGATTCATCACATGAATCTTCAGCCAACAACTGTTCGAGAACAATGTTGACATCACATGTAGGAATGCTATGTTCTCCAGGATTTGACATTTTTAGTGATAGAGAACCACTATGTTTTGTAAGAGGAAGCACCCACTACTAAAAACAGAATGCTATAAATAGAAGGATGTCTTTTGTTTCCAAAGTCAATATACTAGAGGGATGAGAAAATAGTAACAAAAGCAAGATATTTTGTGGCAAAGTTATCTGGAAGCAAATGATGAAGCCTCAAGCACTGCCAGTGAGTATTCGCAGGGCAAGTGGGAAAGGGGTTTTAAGCCATTTTTCTATTTTTTCTCTTTTTTCCCTAAATCAACTTTGAATGCTACTTTTTAACTTAACATTTAAAAAATATGTTATTTTTAGTGGCTGCATAGTTTTTCATCTTATCATTTATTTATTTATTTATTTATTTATTAAAACAGAGTCTCATTCTGTCACCCAGGTTGGAGTGCAGCCGCCATCTCCGGTCACTGCAACCTCTGCCTCCCCGGTTCAAGTGGTTGGCCTGCCTCAGCCTCCGCAGTAGCTGGGATTCCAGGCACCGGCCACCACGCTCGACTGATTTTTTTATTTGTTTGTTTGTTTTTTGAGACAGAGTCTCGCTCTGTGACCCAGGCTGGAGAGCAGTGACGCGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAGTTCTCCTGTCTCAGCCTGCGGAGTAGCTGGGACTACAGGGACCTGCCGCCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCACATTGGTCAGGCTGGCCTTGAACTCCTGACCTCAGGTTATCCACCCACCTCGGCTTCCCAAAGTGCTGGGGTTACAGGCGTGAGCCACCTCTCACTGACATTCGATAACATTCTATATCTTGTATGTATTCTGACATCTGAAAGGGAAAGGAAAGCTGTGAATAATGCTTCCAAGGACCGCTACTGTGTGGGACCCGTATATTTCCTTTACAGAGGTGCTGTGACAATGAAGAAATGTACATATATGCCTTTATGGTGTGATATGGTCCAGCTGTGTCTCCACTCAAATCTCATCTTGAATTGTAGCTCCCATAATTCCCACATGTGGGAGGGACCTGGTGGGAGATAATTGAATCATGGGGGTGGTTTTCCCCACACTGTTCTCCTGAATAAGTCTCATGAGATACAATGGTTTTATAAGGGGTTTCCCCTCTTGCTTGGCTCTTGTTCTGTCTTGCCTGCTGCCATGTAAGACATGCTTTTTGCCTTCTGCCATTATTGTGAGGCTTCCCCAGCCATGTGGAACTGTGAGCTCATTAAACCACTTTTTCTTTATAAATTACCCAGTCTGGGTCATGTCTTTATTAGCAGCGTGAGAACAAACTAATACATGGTGTCTGGCTCACAGTTGGTTCTCCATACTTGGTAGCTAGGATCACAGGAGGTTGTGTGGCAGACAGAAAAGAGTAGGCCCTTAAGGGGCCACCAGAGCTTGGCTCAAACCCAACGCTACTTCTGCTTGTCACATGATCTTGGTCAATTTAGTTAACTTCTCTGCTTTTTGTGAAAATTACATGGCACCTATGTAGAGTGGGCACTTAGTCAATGATAGCTATTATTATTGTCATTATTTTAAAAAATGATGACTATACTGATAATTATTTTAAAGTACAAACACCAAACATGGTTTCTGTTCTTGGGCAGAGTATGTGGGGGGGGACATGGGGAGGAAGAGGTACCAGGAGGAGATTGGTGAATAAACTTCAAATGCCCAGTTGTACCTTGTGTAGAAATAGGCCACAGAGGGAGAGAAGAAAACAAATACTTTCACTCCGCCATTTTTATCTGAGAAGATTGCAGTTATTCTTCAGAGAAGATAAAGAGCTGGGAGAATTTGAGTTGGGGGATAGGGCCCAAGATAGGGATGGAATAGGCCAGGAAACCAGAGTAACAGGCATGGAGGGTTAGAAGAGGGGAAGCAGAAATGTGCCCATTTTCCCTCTCTGTTCACCCAAGACCTGTGGTCTGTGGTCTCCTTCCTGATGAAACAATTGCCTTATTAATTTCCAGGTTCTGTTTGGTGGAGGCGGCAGCCAGCAATATTGGTTTGTTTTATATTTATAGACGTCATCAATCCTTTGATGCCTTTAATCTTTGCTGGGCAATGCAATTCTTTCTGTTATTTCTCATGAAAGGCTAAAAAAAAAGCTAACTAAATTATGCCAACCCCTATGTAGGAAAGAGGCTGACATTTTACAAGCAGCAATAATTTTACCACATTACTACTGGGCAATAATCCTTTTTAGGAGCGGATATTTATATTTGTCTAATCAGGGAGATGGTGTTACACTCCATTGACTGATATGTTAAAATTACCTACAATTTCTCCCTTTTCTACACAGAAATATAAGTACTAGATTAAGCCAGGTTTAGTGACAGTTTTACCAAATGAGTTATGTTTTACAATAAGAAGAAACAGACAAAACACACACACACACACACACACACACACACACACACACGCTTTAGCATTAGAAAAACCACTCTACACTGCTACATCATTTGCTAACTTTGCAGACTTGTGCGATCTGTGACTCACTCAGTTTCTTATCTTTAAAATGGAATGATATTTATAGTCTCCATTAATCTATTGTGAAGATTAAAATAGATCATTATTTATAAAGCACTTAGCATAGTACCTGACACACTAATTGCTCAGTCAATGTTAACTTCCTGTTTCTCTCCTTCTTCCCTTCCTTTCTTGCAACAGTCTCTGTGCTCAAGGCCATTTGGCTACCAGACGGAATTGAGGAGAAACAAACTCAAAGTCAGGAGACACAGCTTTTCCATGTATTACTGGAGTCGGTTTAGGTAAATTAGTTCTCTTAACTCTCCTGTCTGTAAATAATGCGGGTAATACTTGTAGTGTCCAGCAACCTAGTTGGTGAGGCATCAGTGGCTCAAAAGAAGAAATGAATGAGAAAGTGGCTTTTAAATAAATAATAAGGCCAGATTCCTGTGACATTTTGAGTAATCATCCAGGGACTAGGAAAGTAACTGGTCTTTACTGTAACTGCCTTTTAAGTTGCCGGTCATTGTAGGTAGAAATTATTTTGAAGGAGGTTCCCAATGGTGAAAAGTCTCCTAGATGCACCCTTTTACATTCCCACCAGCAGTACAAGATTCCAGTTTCTTCACATCCTCACCAACATATAATCTTTTTTTTTTTTGATAATTGTTATCCTAACAGGTGTAAGTAAATATTTCATTGTGGTTTTGATTTCCATTTCCCTGATGTCTGGTGATATTGAACATCTTTCCACATACCTGTTGGCCATTTGTGTCTGCTTTGGATAAATGTCTGTTCAAGTCTTTTTCTCATCTGCTAATTGGGCTTTTGTCTTTTTGTTATTGAGTTGAAGAAGTTCCTTATATATTTTGCATATTACCTATTATAAGATGCATGGTTTTGAAACATTTTCTCCCACTTCTTGGGTTTCTTTTTTTTTTTCACTGTGTTGATTGTTTCCTTGCTGTGTAGACTTTTTTTTTTAGTTTGATGTGGTCTCCCACTTGTCTGTTTTTGCTTTTCTTGCCTTTGCTTTTGGTGTCATATTAAGAAGTCATTGCCAAGACCAGTGTTATGAAACTTTTTCCCTATGTTTTTCTCTAGGAGTTTTACAGTTTAAACCTTAAGTTTTAGCCTGTAATCATTTTGACTTGATTTTTTTTGTGTGTAATATAACATAAGGTACGATAAAATGTTACAGCTACAATGGAAAACATTATGGATGTTCCTAAAAAAATTAAACATAGAAATACCTCTTGGTCCAGCAATCCTATTTATGGGTATATCTCTGAAAGATTGGCCGGGCGCAGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCTGATCATGAGGTCAGGAGTTTGAGACTAGCCTGGCCAACAGAATGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAGTCCCAGTTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATTGCCCTGCAGTCCAGGCGACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAATCTGAAATCAGAATATTGAAGAGATATTTGCACTCCCATGTTCATTGCAGCATTAGTCACAATAAACAAGATTTGGAAACAAACTCAATGTCCATCACGGTATATATATACAGTAGAATATAATTCTGCCTCGAAAAAATAGGGAATCCTGTCATATACAACAATATAAATGAAGCTTGAGGACATGATGCCAAGTGAAATAAGCCAGTCACAGAGGAACAGGTACTGTATGATACCACTTATATGAGGTATATAGAATAGGCAAGCTCATAGAAACAGAGAGTAGAATGGTGGTTATGAGGAGCTGAGGGAGGGAGAAGTAAGAAGTTGCTATTCATCAAGTATAACGTTTCAGTTATGCCAGATGATTAAGTATACATATCAGCTGGACAACATTACACCTATAATTACCAATACAGTGTTGCACACTGAAATTATTTTTTAACAGGGTAAATTTCATGTTAAGTGTTCTTACCCTAATAATATGCATATAAATTATCTTGGTAAAATTCTGATTCTGATTATGAAATGTTTGCAGTGGAGCCAAAGAGTCGAAATTTCTAGTAGGCTACCAGGTGATGCCAATGCTGCTGGTCTGTGGACCATACTTTGAGTCACAAGTGTTTAGTAGGGGTTGACAAATTATGGCCCATGGGCCAAATCCATCCTGCCACCTGTTTTTGGATGACTCAAGAACTAAGAATGATTTTCACATTTTAAGATTATTTTTAAAAATCAAATGAAGAATAATATTTTCTACCACATAAGAAATATATGCAACTCAAACTTCAGCATCCATAAATAAAATTTCATTGGAACGTAGCAACACGCATTCCTTACAGTTTTGTGAATGGCTGCTTTTGTGCTACAACAGTAGACTTAAGTAGTTGCAACGGGGGCTATATGATTTGCAAAATCTGACATATTTACTATCTGGCCTTTTACAGGAAAAATTTGCCAACTTCTGGAGTAGAGGGTAACTTGGATTGTCAAAGAAGTAAATATTATCCTCCAGGGTTTCATTTTATTTTTTTCATTGCTATCAGCTTCTCACAGCAGCAGCCTTCTGCCTACTGGCATTTCTCACCAGACTCAAAGAGTTTGACCCTCTCTTTTTTTTAAGGCACGATGCTGGGCACATCAAGTTTGAAATGTTATGTAAGTCAGAGTTTACAATGTTATGTAAGTTAGAGTTGCAACATTATATAAGTCAAAGGCTCCTCTTGTGGGAATTACTGACTGGACTGTGTCATTTTCCCTTGCTCTTGTTCAGCCTCACTCCATCATACTACCAGATGTGCTCATACACATGGATGTTGTCTAATGTGCAGAGGAAAACTTTGCTTTAAAGTTTAGAAAACAAAAACAAGTAATTCTATTTATTAACATTATTTGAAAATGGACATTGAGATCTATGTATTTCTACCAAAAAACAGATTAATGTAACCTGTTTTAAATGAAATAATGAAATGGGTCTGTAGAACTTGCATCAGCATGAGAGCTTGCTATCCTCAGATAAGACCCTTAAATCCAATTCTTTATTCATCATGGAGTCCCAGTTTTACCCCTACCATAAGGGAAAATGACTTAAGGTTTCTGCCCACCTCTTTCACCAAAGTTTGCAAGTCTGAAGTGGTGAAAAACAAATTACAGCCACTAAATAAAATTTAAAACTGAAAAATGTGAGAAAAATTACTGCAAACCAGGCCCTGTAAGTCTGTTCTTCTGAGGTTACACAGGGCTGCCTGCAGGTACACTAAGATTCTTCTTCCTTGTTCAAGGGGATGACAAAAGCTCTGTCATACATAGTGGTTATTTTGAAAATATGTCAAAAATTTAACTTATGAAAAGTCCTGAATCATATCTAAGTACATAAGCCTGGTTTAGTTATTCTTCCTAATGGCTCCAGGTTAAGACTAGTCAACATAATTTTCTCTGGTTTGGGGGATAGTCAGGAAACCATGGCTGCTGCCTTCAGTGGTGCGTTCTTTATTATTTTTGGCTCCTAACAACCATAACTGGTTCAGACATGTTGACCTAATCTAGCCATAATAGGGCAGCTTCCTACCAGCTCAGTCCTTATAGAAATTAAGGTGTTAAGAAAGATTGAGTAACCCACATTTCTCTGTGAGCTCTTGTTTTCATAAGTATACACTGATTTTTGTTTCAGGTACTTTCATGGTTAATAAAATTGTCATTTAAAAATAAATAGAGTAAAAATAAATAAAAATTTAAAATTATTTATTAAGTAATTCAGGTACTCATTTGGTACAATAGCCCTATGAAATAAGTTGATTTTTCCATAATGGTTCAATACATTACTCAAAGTCATGCAATTATTTCATGGAAGAGACAAAATTCAAACCCCAGGCTCAATGACTCTGGAACTGATACCCTTTAATTTGAATGTATGTTTTTTCCTGACAGAGTAACTCTCAAATCCCATTGTTAGAGTCTGCTGTCACATAGACCTGGAAAATTCTACAGGCTGTCTCCCCTTCTTAAAGAGTCATAATGTATACCAGCTTATTAACAGCTCCAGGCTTATTAATGGCTTCCCTATATAAATCTATGTATATTTGTTTACTCCCACATTTCTCAAATTTATTTTCCCACTGACCCCATCCTCCTACCACTACCTTTCTTAACACTACGACTAGCAACAATCTGCAAAACACATTTTGGGAAATATTGCACTAAGTCATTCAGGTCCTGTTGTTGATACTGTAGGGATGTGAAATCAATTGAGAGAAAATATTCCAGGACAAAGAGAGAGGGAGGAGAGGGAGAAGAAGAAAGAAGAAGAAGAATAAGAAGGAGAAGAAGGAAGAGTAGGAGGAGGAAGAGGAAGAGGAGGAAGAGGAGGAGAAAGAAAATAAAGGAGAGAAAACAAGAAGAGAAAAAGAAAAAAAGAAAATGCTATATCGTGACTGAATTGAAACATGGAAAGAGGGAGGAAGGAAGGACATTCTTCTGGCAAATCACTCATTTATATTCACTAATATAAATGGAATTTTTAATACTTCAATATTTTGTAGCAATTAATAAAAAAGGTTTGGCAAGCAGCCAGAACATCTTTCAGCTTGTTTTAAGTTCCTGATGGAGGGACACCAAGATTCAGAAGACACAGCCTTTTTCCTCTATGGGATCATAATATATTATAACATAAAACACAAGGATACAGATAGTATCAATAGCACAGACTGCATGACAAGTGCCCCTGGAAATGTACAGGGTTCAAACTTGGGCTCTATAAATTCCTAGCTTGTGTCCTTAGGCAACCTACTTAAACTATCTGTGCCTCAGTTTCCTCATATGTAAAATGATAATAATAGAATAACCTACTTCATAGGGTTGTTGTGAAGATTAAAGTACTCAGAACATTCCTGACATACAGTATGCTTTATAAGTGTCGATTATTATTATTATTATTATTTTTTTTTTTGAGACAGAGTCTGGCCCTGTCGCCCAGGCTGGGGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTCCGCCTCCCGAGTTCACGCCATTCTCCTGCCTCAGCCTCTCGAGTAACTGGGACTACAGGCGCCCGCGACCACGCCCTAGCTGGGACTACAGGCGCCCGCGACCACGCCCGGCTGATTTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGAATTATTAAGTTTTATATCACTATTTTGAAACAAATTCGTAAAAAAATCAGAAATCTGAGAAACAGAGAAAATCCCTAGGAATGCCATGAAAGAGTAAGATGGATGAAAGCAGAAGTGCATGACCTCTGAGTAACCAGTCTCACAGGTTTGTCCCAAACTGTGTGTGAAAAGAAGGAAGGCTGGGCAGAATTCAGCATTTGAATGGCTGGAAGGAGCTGCCATTCTAGAATTGGTATTTGGCAGCATATAGAAAGTAACCAGGAAGACCAAATATCCCAAGGATTGTGGCTAGAGCTGTGAGCAGACTGAGCTGGAAGTGGAATGGAGGGAGATAGACCATGAAGAAACAGCATGCTTACAATGATCCAAGATATTGAACTCACCTACCCTTTACTGTCAATTCAGTAGTTTTGCACTGAATTGACATATCTGTATTGCTGCATATCTGTAAGGAGAGGAGGAGGAATGCAAAGCCAGAAGACCACTGTGCAGTACAAATGTGGAAGAGAATTCTGTAAGAATTAGAGGTTGGTCTTCTTTTCATCTGACAAAAACAAGAAATACATGCAGTCATACTGAAATTCTGTTTGTGTCTCTTATTGGCAGCGGGTGGCTTATCATTGTTTGTCCCGCAGTTGTGTCTGGAAATTGCCAACCAATTAAAACGCACAAAGTTAGCAAAATTGGTTACTCATTTTCCCAAAAATGTATACTGAATGTGCTGTAAATGAACTTGCTTTAGAAAGTTCAGTGAAGTATACAGATTCCAGTTACTGGTAATGACTTAAAATAAGGCAATAAAAATGTCACAGCTGAGTATGGTTTTTACCCTTTAATTTTAGTTCTTGATGTGGCTCACTGAAAACTATAATTGAAATGACTGGTGGAGTTATGACTGCCAAACTCTGTCTTTGTTAATGTCGAAGTAAAAGAAGGTATGAAGCTAGGGGTTGGGGAATGAGAGGAAGCTAGGGGAGGGAATGGCATGGGAGAGTCTGTTGTGGATCTGGATTTATTTTTTTTCTTTTTTTTTTTTTTTGATACAGAGTCTCACTCCGTTGCCTAGGCTGGAGTGCAGTGGAGCCATCCCGGCTCACTGCAACCTCCACCTCCCGGGTTCATGCAATTCTCCTGCCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCCAGCTAATTTTGTATATTTAGTAGAGACAGGGTTTCACCATGTTAGCTAGGCTGATCTTGAACTGCCGACCTCAGGTGATCCTCCTGCCTGGGTCTCCCAAAGTGCTGGGATTACAGTCGTGAGCCACCGCGCCCTGCCTGGATCTGGACTTCTTATCAGAATTAGTGGTGGGTAAATCCCTGAGGTTTCTTTATAATCTGCCTGGGATTAGATTCTCTGTAAAATCAGCTGATTCACAATATAACTGCTTTCTATTTTAAAATATCTTAACACTTAAACAATGTTACCACACTTTGCAACATAAAATGTACAATAATTGTAAGAGAAATTTCACTGCTTCTCTACATTCACATGCGTTCATATATCAAGAGAATAAATTAAAGAGAAATTTATCCCGGGGGATTTTATAATAAATTACCAGAGAAAACTGAAACAGAATGCTAAAAGTAAAGCAATAGAAAACTCCAAAAAAGAAAAATAATACTTCATGAAAACAACTCTAAAAAATATGTAACCAGAGCACAAAAAGCAACGTCTCCAAAGGTCAATTCCTTTATCTTAGTGGTTCTTAACTGGGCTGATGTTAAACATACTGCAGTGTATAGGACAGCCCCTGACAACAAAGACTTATTCAGCCCCAAATGTCAGTTGTGACAACTTTGAGAATTCCTGCTTTATATTAAGCAGAATTTCTCCAAAATGTTTTTCTAGCTGGAGAAAATGATGCTGATATACTGTCTGGGCTCTTCACAAACTTAAAAACAAATTTTTAAACAGTATTGGTGGCATATTATTATAAAGAAATTGCATTAAAAATGAATGTACAGATTAATGAATTACTATATAGGGCATATTTACATAACCACCATCCAAGCAAGAAATAGAGCATTGTCAACCTAGACCCTCACCCTTTTCCCCCAGCACTTCTTGGGAATTGTGACTCCTTTTCTTCCCCTCATTCTCTTTACTTGGCTCATAGGTTTTCTTTGTAAATTACCATGCAATTATTCACCCCCATACACTTTAGTTTTACCTATTTTGGAACTTTATATAAATGGAATCATACAGTATGTATTCTTCTGTGTGTTTCTTCATTCATCATTTTGGTGAGTTCCATCCATGCAGGTAACAGTAATACATTCACTATCATTGCTCTGTGATATTCTGTTGTATTATCACAATTCATTAATTCTATTATATACGGGCATTTGCATTGTTTTCAGTTTGGGGCTATTCCAACTAATGTTGCTGTACACATTCTTGTATATACACTCTGATGCATACAAACTGTTCTATTGGGATTATATCTAGGAGTGGAACTACTAGGCCATAGGGTATGAGGATATTCAACATTAGTAGATAACATCAAATTATTTTCATGAGCAGTTGTAAAAACTTATGCTTCCACATTAAGTACTGGAGAGTACTAGTTGTTCCACATTTTTTCCAGCTCTTGGTATTGTCAGTCTTTTTCATTTTAGCCATTCTGATGTTATGCAGTAATACCGTGTTATGGCTTTAATATGCATTGTTTTCTGATTACTACAAGGGTTCAGTACCTTTTCATATGGTTATTGGCCATTTAGATATCTTCTTTTGTGAAGTGCCTCTTCAGTTCTCTTGCCCACTTTTTCATAGGGATGTCTGTTTCTGAATGGTTTGTTTTTCTTTATATATTCTCGGCATGAGCCCTTTGTTGTTCATTAAGATGCACATGTTTTCTGCCAATCTGTAGCTTGCTCTTACTCTCATAATCACATTTTTTAAACAAATAGAAGTTCCTAATCATAATATGGTCAGTGCAATGTATACATCTTTTTATAACCCATTTAAGATGAGCTGATTTTGATGGATTGTGTGGGACAGGAGTCTGCCTATATACCAATTTATCTATTTACTTGCACAGTCTCAATAATATTTATTGAAATAACTGTCCTATGTGAACTTCAGTGACATGGTTATCATAAATTAAGTGTCTATAATTATGTAGAGGCTTTTTTGTCCTTCAATTCTGTTTCAGTGGTGTGTCAATTTTTGAGGGAATACCACTCTGCCTTAATGACTAAAGCCTTATAGTAATCTTAGCATCTGTACAGCAAGAATTGACATCTTCCACAAGAATGTCTCAGTTCTTCTTGGCCCTTTTATTTTCATGTGTATTTTTAAAATTAGCTTTTCAATTTTTATATACATACATAAACTAACACAAATGCACATTTTAGAAACAATAGATTCCATTGTATTGAATCTATCACTTTTTAGTATTAAGTTTTCCAATCTATAAAATGATATATATCTTTCCATTTGGAAAGGTTTCATTTAATTTATCTCAACAATATTCTATAGTTTGCTGTATAGAGTTCTGAGATAACACATAGGGTAGAGCTGTCAACTCAAACTCACATGAATCAGATCTTATTTAATGGCAAACATTCCTAATAATTCCAAGGATACAAGACTCAGGCAAAGCATTCTTCCTTTGGAGAAATCCAAAACCATCAGCACAGCTCCCCAAAGATTCTTCCTCTTTTGTTTCAGGACATGGTCTGGTTCAGATTTAACATTTGATGTTACAATTGCAGCAATTCAGTCCCGTCTTCAGGCTGCACAGGTAATTCTTGTTCTTTTGCTATTTGTGGTGACTTCCTCTATTGGAGTCTTGAATTCCACAAAGTCGTCCACTGAGGGTTGGAATCCACTTTTTCCAAAATCCAGCTAATGTTGATATTTTGACCTCCTCCCATGAATTAAATATTCTTAATGGCATCTAGAATGATAAAATATTTTTAGAGGTTTTTAATTTACTTTGCTTAGGTCCATCAGAAGAATCATTATCTGTGGCAGCTATAGTTTAACAAAATGTATTCCTTAAATAATAAAACTTGAAAGTCAATATTACTGCTTGATCCACAAGCTACAGAATGGATATTATGTTAGCAGGCATACAGATAATATTCATATCTTTGTACATCTTCATTGGAGCTCTTTGTATGACTAGATGCATTGTAGATGAGCAGAAATATTTTTAAAGGAATCTTTTTTTTTTCTGAGCAGTGGGTCTCAACAGTGGGCTTAAAATATTCAGTTAACCATACTGTAAACAGATATGCCATCATTCAGCCTTTGTTTTTCTATTTCTAGAACACAGGTAGAGTAGATATAGCATAATTTTTAGGGATTTTAGGATTTTTTAAATCCCCTTTAAGTGATCTTAGGAATTTTAAAGGTATCTTTTTTTTCTGAGTGGTGGGTCTCAACAGTGGGTTTAAAATATTCAGTTAACCATACTGTAAACAGATGTGCCATCATTCAGTCTTTCTTGTTCTATTTCTAGAACACAGGCAGAGTAGATATAGCATAATTTTTATGCATCTTGGGATTTTTAAATCCCCTTTTAGGGATCTTAGAATTTTTAAATCCCCTTTAAGTTGAGCATTGGTGTCAACTTAAAATCAACAGCTACATTAACCCCTAACAAAAGAGTCAGTTTGTCCTTTGAAGCTTTGAAGCCAGGAATTAATTTCTCTCTAGCTATGAAAATACTAGATGGCATCTTCTTTCAATAGAAGGCCATTTTAGCTACATTGAAAATCTGTTTTTTAGCGTATCCACCTTCATCAATGATCTTAGCTAGATCTTCTGGATAACTTGCTGCAGCTTCTACATCAGCACATGTTGCTTCATCTTGTACTCTTACGTCATGGAGATGACTTCTTTCTTGAACCTCATGACCTACCTCTGCTAGTTTCAAGCTTTTCTTCTGTAGCTTCCTCATCTCTCTAAGGCTTCACAGAATTGAAGAGAGTTAGGGCCTTGATGTAGATTAGGTTTTGACTTAAGAGAATATTGTGGTTTGTTTGAACTTCCATCCAGAACGCTCAAACTTTCTCCATATCAGCAATAAGGCTGTTTTGCTTTCTTATTATTCATGTGTTTACTGGAGTAACACTTCTAATTTTCTTCAAGAACTTTTCCTTTGAATTCATAACTTGGCTGTTTGGTACAAAAAGTCTTGATTTTGGCCTGTTTAGCTCTCAACATGCCTTCCTCACTGAGCTTAATTATTTCTAGCTTTTGACTTAAAGGTGAGACATGTGAGTCTCCCCCTTTCACTTGAACACTTAGAGGCCATCATAGGGTTATTAATTGGTCTATTTTAATGATGTTGTGTCTCACGGAATAGGAAAGCCAGAGGAGAGGGAGAGAGATGGGAGAGTGACCAGTTGGTGGAACAGTCAGCACATACACATTTATCAATTAAGTTTGCTGTCTTACATGGGCATGGTTTATGGTGCCCCAAATAATTTCAATAGTGACTTCAAAGACCACCAGTTACAGGTCTCCATAACATATATAATAATAATGAAACAGTTCGAAATATTGTGAGAATTACCAAAATGTGATACTGAGACACAAAGTGAGCACAGGCTGTTGGAAAAATGGCACCAATAGACTTGCTCTACATGGGGTTGCCAGAAACCTTCAATTTGTGAAAAAGCACAATAAAGCAGGTGCAATAAAATGAATTATGCTTGTATTTGACTCATAATTATTTCCTGATCATTTATCTTTTTCTCTAAGCCTTTTTCTTATCATGAGCCTTTTATTTCAAAATATTCTCACTGAATATAAATTCTCACAATTGTGACTTTAAGTTGCACATAAGCTACAGATTCAGCTCAAATTTTTATTTCTTCATGAAACTTTTATAGATTGTCAGCTCCATGATCTCTTCTGTCTATACTATCCTTACTAGCCACAATAGCGGCCATATTATTCAATATTCTTCATATTTATGAGACTGCCAACACCAAACAGCAAGTATATGGTGGACATGGTTACAGCCCAAATTGTTCGACTCAGCCCAGCAGTCCTCCCAATAGAATCCTAGTGCTTCAGTGATATCCTTCACATTCATTAGATACAGGCCATCAACTGGCCCAATAGGAAGCTGATACTGACCTGAAGTTCAAGGGAAGCATGCACAGTAAGGAATGAGGAGAGAGGAATTCTTGCGTTTGTGTATAAAAATTAAGCTTTATCTTCTAAGGCACAAACAAAAAGCCTGAGAATGAAGCAACTTTTCTTCTTCCAAACCTGAGGAATGCACTTTTCCACCTGGTCTGGGAAGAAAAGGGTTTATGATTTCCTCACTAGCGAGAAGAAAAGCCAGTCACTTATCAGAATTGAAGATAATCCTTTTCATTTTGATAAGCACCTGGTCTTTAGCTGCAGAATTCTGTCCTTTACTCTCCTATTAAACAATTTTTTAAATAAAATCACATTATCCTAATATGTGGGATTGTTTGGCTCTCCACCTTAAGCTCAGTTCTGCAGCTTCCTTTTTAACAATCATGTCAGTGATTGACTGGAAAAGGAAGCAGGATACAGAAGCAGCTTATAGGCATGCTGATACAGCTCTCATAAATGGTGGAGTTATCAAGATTTAATCACAAAACATCTATAATGAGGGTTTTAGAAAGCCTATTCATAGGTATGAATCTTTCTTCACTAGACTGTCTTATCAAATGCTGCAGGAGCACTGAGGAGACTATATTTATGGCTCATTAATAAAGATTGTTTCTAAAATGCATGTATTTTACATAGTCATGAAGATGAGGGGATTTTTAAAGGAACTATATCATTGAAAACGATTGATGTGTCTGAATAGCAATGATTCCATTCTTAACTCAACTGAGATCTTATATTTGAATAATTCCTGCAAGTATATCTTCTCTGCAAATATATTTTTGATTGGTAATAAATAATACTAGATATTTAGTTTTTGGCTTACAGAATAATCTGATATGATCCTCTGTCCTTTATATATGGTCTTGATTGGCATTCCAAATATTCATCTTGAGAAATTACAAAAGAAATTGTCTGACATGCCACCTGAGGGGATAATGTGAAGAAACTGCAGACAGTGGATACAACAGCCACTCTAGCAGACAGGGAATGTGAGAAAAGTACACTTTTTCTCTGTGTTTGGGAGCAGTGACAGGAATTTCTTTTCTATTTTCTACATCCTTTATCAAAAACGGATCCAAAAACCCCTCAAAAATTTCTGTTTAACAGTTTGTAGAATGGTACTATTAAAAATTCTTTAACCAGCCAGGCGTGGTGACTTCCCCTATAATCCCAGCACTTCGGGAGGCTGAGGTAGGCAGATCACTTCACCCCAGGAGTTCAAGACCAGCTTGGGCAACATAGCAAGACCCCCATCTATTAAAAATAAAAAAAATCTTTACAAACATTTTCCAAAGCTGTGTGAATTCTGAAGAAGAATATTTCCAAGTTAAAAAAAAAATCATTGATCTTGCTATTTGACTATCAGGCTATCAGGCTATTAATAATCCCTGTTACATTTTTTTACCATTCCTGCGATTACTACTGCTGTCATACTACCTATACGACAACTGCCAGCCGTCATCATTGGGGATTCAGCATGTTACCAATGTGCTTTACATGCATTATCTCATTTAATCCTTGTAATACAGGGAGTAGGCATATTATGGCCCATTGATATGTAAGAAATCAGAGATTTAGGTAATTTAACTAACTTACGTAATGTAAGCTAGGTAAAAAATGGCAGTGCCAGGGTTTGAACTAATGCATTCTAATTCAAAACCCTTACTCACTCATATATTCTGCTTCTAATCTGCTATGGGGTTGAAAGCCAAGTGGTCAAGCTTATTAGAATCGTGTCTAAATGTGAAGTATCTAAGTGCTGCATTAGGTTTAAGAGAGTCTCCTGAAAGGAACATTTCTAATCTTTAGAGAACTGGTTTTCAGCCACTGTTGGGGAAGGCAGAATTATTAGAGCTATGAAACTATACACATTATATACATATATATATATTTTCCAATACATAGATTACTATAAATGTGTGTATTTAAAGATACCAACTGATTTAAATGTGTGAAAGAATTTGTAATCTGTTTTATTTATTGTGGAAGAAAACACAGTTTAGCAATGTGGTTAAGTACAGAGACTCTGGAGCCCAGGACTGCCTGGGTTCAAACCCTGGCTCTGTCACTTTCTAGCTGGGTGGTCTTGCTTAAGTTACCCAATCTCTCTGCCTCTCAGTTTTCTCATATGTAAGATGAATTCAACAATAGTAAAGATAAACTTATTTTATCTTCACTAACCTCTTGGAGCATTGGTGAAGTTAACATAAATTAAGATTTGTGTAACACTTAGAATACTTTGCAGTTTCCATAGTAAGCACTTTGTGGTTTCTTGGAAGCCAAATGCTAACTACAAACCATCTCTAGGAGGTCTGCAACTAATTTTTGGATTAGCTTGAAAATGGTGAGCACCACTGCTCTAGAACAGATGCACTGAGACATCTTGTTGGTTGTTTCAGAGACCCATTTGGCATCCTTCTAGATTATTACTTGTGCTTTTCATAAGTTCTCAGTGCTGGGCATATATCCTATATAAAAGTGAGATGCTATTCAACAGTGTGTTAGAAATTCAGAGGCATATAATTTGTACTTGGATGCTGAGTCAAAGTCAATAAAAATGATACCATCTCTGGAGATTAACATTTAATGTAAAGGCAACATTATAGACATAGTTTAAACACCATGGACAAAGAGAAAATTTAAGGAAATATATTTTTCTGTTTTTACTGTTTTATTTTCATGTTTGGAGAAGCAGACTATTATTCTCATTTTCTTTTGTTTCATGAAAAAAATGAAAAACCCAGCTTATATAATGTAGTTATCCCCTGCTTATACATACATATAAAAATAATTCTCTCATCAAGTGAATTTTGAACTCAGACTCTCCATTAATTGCTATTTTTCTTCTCAAATGGAAACTGGTCTATGACTTGAATGCTTTTTGATAAGTCCTTGAATTTATTTGTATTCAGAGATTCTGTTGCAGTCTGCTAAAAGCCATTTCTTGGCAGGCTTGGGTAATTGCAGATGAAAAGGCTCCAAGAATAATTTTTTCCCTACAGGAAAGTGAGAAGGGATACTGCTGACACTGGGTAGAAAGAGCCCAACCCAGGCAAATAAGAGAATAATTAAAGGCCCAAGAAACTATTTGACAATATCACATCTCATGCAAATTAGAGGAACCTAGGATTTTTTTTTTTTTAAAAACCCTCACTTCTACACACACACACACACACACACCAGTGCAAATTTGGAGCAGGAAAAAAAACTCAAGGCTGCACGTCACTCAGACATTAGCATCCCAAAGCCTGAGTACTGAGGCATCATTTTGTGCAAACTTCATTTGGGTGAATTGAGTGTCCGATGGGATTCGTTCACGGAGCCTGAACAATAAGTGGGAACTCGGGGAGGTGAGACAAAGAAAATGCTAAACACTTTCTACTTTCATTTTTTCTCACATGAAAGAACAACACACTCGTCTTTGATACAGGAAAGGAAAACAAAAAATTGTGCATTTGATGTACATTATAAAAAGATGTCTCCTTGTGTGGGTGGGGGAACACCAAAAGGGATAGTCCCAACACCACCATTGTGTCTTCTGTTATTCTTTACATTATATTTTGTGGCTATAAGGATACCATCCTCAGTGTCAAAAACAATGGTGAAATACTTCCAAACAATTTCTTCAAGACATCACCAAAAAGCTTCCTTTCTATATTCTACACAATCTCTTTTACAAAACATAAAAGGAAGGAACACTTCTCAATTCATTTTATGAAACTATCTTTACTCTGATAGCAAAACCAGATAAAAACACCAAAAAGAAGCCAGATAAAAATGAAAGAAAACCAGGGATGAATATTTTGCATGTATATGGATGTGTTGAAATCCTTGACAAAATATTAGCAAACAGAATTCAGCAATATACAAAAACAATTATATACCATGACCAAATGGGGTTGATTCCAAGGATGAAAGGCTGGTTCAACATTTGAAAAAATCAACCTATGTAATCCACTATATTAGCAGGCTAAAGAAAAAAACTCACATAATTATATAAATGGATTCAGAAAAACATTTCAACAAAATTCAACACCCATTTATGATAAAAACTCTTAGAAAAATAGAAATAAAGGAAAACTTACTCAGCTTGATAATGAGCAAATATAAAACTCCTCAGTTAACATTATACATAATGGTGCAAAACTGAATGCCTTCCTCCTAAGATCAGGAACAAAGCAAGGATGTAGCTCTTACCACTCTTATTCAACATAATGCTAGAAGTTCTAGCCAATGCAATAAGGCAAGACAAGGAAATTAAAGGCATGCAAATCAAAGGGGAAGAAATAAACTGCTTCTATTTGTAGATGATACTATCATCTATATAAAAAAATCTCAAAGAGTGTATTAAAAAAAACTCAAGAACTAGTTAGTGAATAAAGCAAGGTTGCACTATAGATCAATATACAGAATCAAATGTAATTCTATATACTAGAAATTAACACATGGACACCAAAATGTTAAAAAAGTAACATTTACAATTGTTCAAAAAATGAAATACTTTAGTGTGTATTTGGAGAAAACATGCACAGGACATTTACACTGAAAACTGGAAAGTACTGATGAAAAAAATTACAGAAGACCTATAAAGTAGGCAAACATACAATGCTGCTGGATTGAAAGACCCAACATAATAAAAATGTTGACTTTTCCTGACTTGGTTTACAGATTTAACATAGTTCCCCTCAAATTCCCTGCAAGACTTTTTATAGGTATAAACAAGATTATTTTAAAACTTATGCAAAAAACCAAAAGAGCTGGAATAGTTTAAAAAAAATGATTAAGAAGAAAGTGGGATGAATTAGTCTACCTGATTTTAAGACGTTTCTTATAGCTACAGTAATCAAAACTGCACGATATTGGCAGAAAGATAAACATAGATCAATGGATCAGAGCAAGGAATCCAGAAATAAACCTACTCAATCTTTCCAACTATTTTTTTGACAAAAGTGGTAAAGCAATTGACTGGAGGAAAGATAGCCTTATCAATAAATGGTACTTGAGCAATTAAACTTCCATAGGCAAAAAACAAAAACACACGCACACACAAAACAAACAAACAAACGAAAAACCCAACAAACCCTCAAACCTCAAAAAAACCACCTCAACTTAAGTGCATAAAAAAATTACTCAAAATTGAGCATGAAATTAACTGTAAAATATAAAACTATAAAATTTTTAGAAGAAAATATAGGAGAAAATCTTTGGAATCTAGGGCTAGTCAAATAATTAGACTTGACACCAAAAGCATGACCCATAAAAGAAAAAAATGAATAAATTATACTTTTATCAAAGTTAAAAACTCTTGCCCTGTGAGACACTGCTAAGAGTATAAGAAGGCAAGCTACAGAGAAATATTTGAAAACTTCGTATCCAACAAGGACTCACGTCTCAAATATAAGGAACTCTTTGAACTCAACCACTGAAGGAACAAACAATACAATTTGAAAACAGATGAAAGCAATGAAGAGACGCTTCACCAGAATGCATATACAGATGGCAAATAAGCACATGAAAAGATGTAGAATATCATTAGTCATCAGAGGGTTGAAACTAAAATAACAATGAGATATCAATTCACATCTATCAGGAGGGCTAACATAAAAAAAATTAAAAATCTAGTGACAACACTAAATGCTGGTGAGGATACAGAGACACTGGACCACTCATACATTGATAGTGTGGATGTCAAATGGCACAAGCACTCTGGAAGAGTTTGGCATTTCTTAACAAACGAAATCTGCAAATACCATATAACCCAACAAGTTCACTTCTGGGCATTTATCTCCAAGAAATGAAGAATTACGTTCACACAAAAACTTGTGCATGAATGTTTATAGAAGCATTACTCATAGTAGTCCCATACTGGAAACAACCTCACATGTCTTTCAGTGGGTAAATGGTTAAACAAAGTGTGGTATGTCCATATGATAGAATATTACTTAATAATAAAAAGCAGTGAATCATTGGTACACATAACAACCTCTAGAGAATTGTGTGGAGTGAAAAAAAAGTCAAACTCAAAAGGTTACATATTGTGTAATTCTGTTTATATAACAGTCTGGAAATGACAAAATTATAGATATGGAGAAGAGTTTAGTGGTTAGGGTTTAGGAGATAGTGAAAGTGGGGAGGAGGGAGTGGGTGTGGCTATGAAAAGGAAAAATGAGTCCAAAATGATGAAAATGCTCTGCACCTTGACCTTTTCAGGGTTGAAACCCTGGTTGTGCTATTGTACTCTACTTTTGCAATAAGTTACCACTGGGCAACACCAGGTCAAGAGCACATGGAATTTTTCCATATTACTGTATTACTTCTTACAATTGCATGTGAATCTACAATGATCTCAAAATAAAAGGTTTAATTTAAAAAGGTTTTCTTTTTTTTTTTTTTCTTTTTGACACAGAGTCTTGCTCTATCGCCCAGGCTAGAGTGCAGGGGCACGATCTCAGCTCACTGCAGCCTCCACCTCCAGGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAATAGCTGGGACTACAGGCGCCTGCCACCATGGCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTGGGAAGGCTGGTCTTGAACTCCTGACCTCAAGTAATTTGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGAATGAGCCACTATGCCCAGCCAAAAAAAAAAAAAAAGTTTTCATCCTTATAATAACATAGATGTTGTTGGCAAGCCCTCTGTATGGCCCAATGATTACATAGTAAGTAGTCTACTACATTTTCTTCCCTCCAGCAAAAATAAACCCTGGGAATTTCAAGTGACTTTGAGATGTTTCTCCATTGTGTTTCCTACCCAACTATCCATTGTCTTAAATTTAAGGGGCCATGCCAGATATCATAAGATGAAATTGTCCAGGGTAGCGTTGTGATTATATTTGGACATAACTTTACCTAACACCGAGGAAAAAGCAACCAGTCATTTTATTTAGGAATCCTTTACCTCATTTTTTTTGGCTTTTTATTTTCAATGTTGTATTGTGATATAATTATCAGATATTCTGAAGAAATTATAAGTAATAATGATATAATATTTAAACTTAAGAAAAATTATTTGAGCCAGAAAAGAGGTTGTGTTTTTAGAGAAAAGGAGTACAGTGGTTGTTTTGCTGATAGTTGTGGTTTTGGAAAGATTGTGGGTTGTCCAGATGACAGTGCTAGAACAGTGTTCTTAAGTCGAGTGTGAGAACTGGAAATTCATTCTGGGTCATTCAAAGTCACTGGAGAATTGTTATCAGACATTTTAAAATTGCTTCCAGACTAATCACCATTGCCATCATTTTTATTATCACATACTTAGGGAAAATTTCACAATCTGCGTGGCTTTCACAGCAGTGCAAGAAATATTTACAAGGCCAAGTGATCCTATTCACATGAGAAATTGTTAAATGAATTGTCTTCATTGATGAAGTATCTGTTTAATCCATTAAAGGTACATAATCATAAATAGAAGATCATGTTAAAAGTGCCAGCAAGGCACCTCTACTACAACACAGGTTTTTTTTTTGTTAAAGCCTATAAGAAAGGTTCATGGCCAAGAGACTTTCATAGTTTGTATATAGAAAAGTATTTTTAAAGTTATAATAATTAACATGGTAATTAAATTTAAATTAATGAAAGGCAGATCAATTTCTAGGGGTAAGTAAAGCAACATCTTGTTGGTAGTTAAAGGAAATATATGATACACATATCTTATACAATGATGGTGAAAAGCAACATAAAGATCTGAATAACACTGAATATAGCCACGATTCTGCTCTGGTTTATGAAAGGATGTTAACCTTGAGACTTTTAGAATTGGAAAAAATAAAAAATACCCGGAAGAGCAGAGGACAAATAATAGGAATAAAAGTCTTTTTCTTGAGTTTCTTTAGTTTGTAAGATGTTCTTTATCATTTCTCACCTGGGTATTAAGTCTTATGTCAAGCTGAAGAGCTACTAGAAAGAAGAAAACGAAAAAAAAAAAACCAGCTTTTCAAAAGAGCAAGTTTATTGTGTACATCTGAACACTATTTTGTAGGTGTCAAATTACAACGACGATAGCATATGAAAGTAAACCTTCAGAAAATATGAACTTTTCCCAATCCTCAGAATTGAAGGAAAATTGATATGCTTTCACCTTGAGTACTGAAAACAAATTCCCATTCCCTCTTTTTCTGTCTCCCTCGCTCTCACGCACACACAGGTGCATACACACCACTGTGGATAATTCCTTCTCTTTTTAGCTTGCATTGTATCCTGTAGGCTACTGTTTCCTACTTGCTCATGATCAGAACACAGCTATAATTTTCACTTTACATTTTGCATTTACAGAGCATTTAATATATTTTAAAGCCTTCATAAGTGTATTTCCTTTAATGCCCATAATACATATCTTATAGGGCTGAAAATGTTGACCTAGTTCACAGTCAACAAAAGAGAAATAACTTGTGCCTCCCACAAGATGCAGGGTCCTCCAACAGATCATATAAGTGAAAGGAAAATCTGTACTTTGGGATTCATGTTTATGAGATGATTCTCAGATTTCTATTCGAAACCTCCTTCCTGGGCTCCCGGAGAGGCCCATCCTTAGAAATGTGTTCCATGTGTATGTTTCATTTGCACTTGACTCGTGTACCTAAACCTCAATGATTCTCTCTTCACCTCTGGTTTCCATGCTGTTTAATTTGTGGCACCTTTCTCCCTAGAATCCAGATAGAAACCTCAGATTCTTCTTGGTTCTTACTCTTCGTTCTTTTTCACATTTTATCCAATCAGTTGCCAAATCCTGCAGATGACATGTTTTCTTTACAAAACACCTTGACTTGATTTCCTCATTATCATTCCCACCACTCCCTCCTACCATCTAGGTGCTTGTTGCCTCTCCCAAAGGTTGCAGTAAGCAGTATCTTCAACATCTTTTCTCCTATTTCAGGACATCCACATGCTGCTGAACACTCTCCTAATCAATACCTTCAGCATCTCTCCATCAGTGACAGAGTTAAGCACATGGTCCTCATCCTCCTGATCAATACTCTAGCTTATCTTTTCTTCAGGCTGAACTATACGTACCCTAGCCATCTGTCAGACTGCAATCCTGGCTTTCCTAAAAACATACTCTCCTGTGTCTTTCTTGTCCTCTTTGCCCCTGCTCTGTGTGTGAATTAACCTGCCGAACTCCACTGCCCAACTTCTCCTGTGGAAATCGATTCCAGCCTCAGAAACCAGTTTTAAAGGCCAGGCCCTCCATGAAACCTCTGCCTATCCTCCACTGGACCCCTGCCACACTCTCTCAATTCCTCTCCAATTGTAAATTCCATCTTATTACACTTATTTGTGTGGATGTCTTCTCCTTCATTCTAGATTGCAAGCTTCTTATAAATTTGCCATTATATTTTCCCAGGCATCCAGGACTGAGAGTTCTATATAATGGAGATTGCATACTGATGTAATTAAAGTAAGTTGAATTAAAATAGAGGTAGCATTGAACATTTTATTTTTATTTTACTGAATGGAGTCACTTTTCTCTTTGCTTCCAAAAAGCGCTTCAGAAAGGGCTGCTTCACTGGTACTAATACACATCTTTTAGTTTCCACAGAAGATTATTATGTTTGAGTATATATAGAGAGTTGGGTGAAGCTGGGCTATCAGTTATGTCAACAAAGGGCAGGAAAACATTACAAATGTACATACCAGTTTCTATCATCAGCAGATATTCATTTGTTAACACTATTAATCCAAACATACTATGTAATGTAAACCATTAATTAGTTTTGAACTAGAACCAAATAGAAATAAAAGTAAAGCAATCATCAAATAGAAAATCTACAAATAGAAATAGAATTAAAGCAATCATCAAGGTATTTTTTCTGTTACTATGGCTAAAAGTTTAGTTTTTACCTATGGTAACAATTTGCTACTTTTAATGCTAGAGAGCAATTTTACAATAGTTTACATACCATTCATTTATTCATTCTTCTTATTATTTCAGATTTCTATATAATATTGGGCAGGGGAGGAGTTGGGCAGTAGAGTTTGGCAGGTAAACTCACCAACAGAGCAGGAGCAGAGAGGCAAGAAAGACACTTCAGAGTATATTAACTCTGTCATTGATGGAAATATTTATTGGGTAACTGGCTATAGGAGATGAAAAATGATCTCTATTTTTGCTTTCAAGTCTACTATAGCTTCATGGAAAGACATACTTCAAGGCCACAATAAGACATGTTAAATTCTCTGTGGATGCATAAGTACTCAAGGAACTGTGGTTTTATGGGAGAAGGAACATGTATGTTTCCCCAGGAAAGACAGAAAACCTTTCAGAAATGCTGAAACATTTGAGTGAAGAACTAAAAAATTTCTAGTCTACCACATGGGCAAGGGAGGTAACAGAATTCTGAGGAGAGGGAATGCATTTGAAAAGGCATAGGGTGGTGAGGTGCCATGTATACTTGGAAGTGATGGCCCTACATATCTGTTACCTGAGCGAGGAAGAAAGGCAGGACATGAATGTCAGCAGATAAACTGAGCCAGCTCGCAGAAAGCCTAGTACTCTCTGCTAAGACCTTTGGGTTTTATTCAGGCCTCAAGGTATGGAAAGATTCCAGCAAGAGGATGCTTTCAATTTTATTGTAGAATCAGCACTGTATGATATTCGGGCAACAGGGCAAAAAGATGTGAATGAATGAGCTCACATCTTAGCAGTACATCAATGAACAGTTCATTACCATTACTGGTGGGTCAGTAGCATCAACAGATAACTCTTTACTCAGGATATAGAAAAGGATTTCCAGCAAAATCAAAGCTTTAAGGCAGAATGGAATAAGTTATATCAAAGTGACATTCAGTCATTTTTAAAAGTCTGAGAAGATTCAAGGATTTATCACAGCTGGACTATGTAGAATTCATCCAGATGGGTAAATATCTGTCTGTCCCAGTTGAGGTCAGAGGAGGAAATGCCACAACCACGGGTTTGCAACATTACACAGACCTCAGTCTGGCAGTCCCTTTGGTCTAGCCTAAATTTATTTTCTTAAAGTTTAAGCTCATTTCCTCCTTTCCATCCTTGGGGAAAGTAAAGAACAGATGGTCATAAACCACCAGATAGTGACCCTTTATAGACTGGAGAAACATATTAAATCATCTCTCAGCCATCACTTTCCTGGGCAGAACAATAGAAACTCCCTATCAGTTCTAGTCTTAGATTTGTTGTTCTAAATCTGTATCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCGACTGGACAGCTCTTTCTCACTTTGCTTAGATGCTCATCCACAAACAGAATGCGAGCCTTCAATAAATATATAATTATTTCTAAGTGCATTGGAAGCATTTCTTCTGGGGTCACTGATCCTGTAAATATAGGTGAGTGTCATATTACATTTAAAAAAACAGCAGCAGCAGCATGTTACTGACTGCCATCTTGAGATGACTAAGAATTCTACATCCTTTTAGAATTCGTGTTGGACCAATCTTTCCATCTCATGACTGTCAATTCTAAACTCTTCTTCTGTGTAAATTGCAGTATTTTGCATCACTTCTTTGAATGCCTCTGGCCCTTGCATGTGAACCTTATTTTTCTCCATTTCTGGCCATTTTTCTACTTCGTTGACATTGCATGACAATTGTTATTTTACCTTATATTACAGCCAGAAGTAATTCAGATTTTCTGCAGCTCTGCACATCTAAAGATTTTACAACTCTTTGCCCTTTTGAAAGTATCTTGGATTTCTCTCTATATTAGGCTTCTCTGGAGCAGGCAGAGACATCTGGGAAAGGCTATCCCTGCCCCATCCAACATACTCACTTCCAAGCTCCGCAAAAGAAGCAGGGATGATTGAATAATGGCATTTATTGAACACTTGCTTTGGGCTGGACATTGGGATGGGCAGAGCCATAACCTGAACAATCTCATGGCTGCTCTTCGGGAACTCACAGTACTGGGCTGGAGGGACTTTACAGGGACTGGACACAGCTGGATATCTCTGCAATTTGAAAATTAGATGATTATGTAAGATGGGGTATTATTCTCAAAGTTAATTGGGGAGCAATAAAATGTTAGATTTTTACCTATATTACCTCCCAATAGGTTTAAGTGCATGCCTCCTTACTGGGTTTGTTAAGAACCATAATTTAAAAATAATTTAAACTTTCTAAGTATTCTCTTCCCATAAAATCAGTGCTTAATAACGTATTTTAACTAGAGGCTAGTTCTGGGTGGAAATAGTTGAAATATGCTAAGAAATCTGAGAGCCCCTATTTGACTATTAACTAAGTGTTGAAAAAAAAACCTAAACAAAAACAAAATGCATCCTTTTCTTTTAGTCCCTCATCCCTTAAAATCTCTCAGGATCCTTGTAGGTTCAAACATCTGAAAAGATGATTGGTCTGTGGGAAGAGAGCATTCACCCTGGTCTTTCATTCACATGACCATCATTTCCAAGTGGACAGTGAGATCTACTTTTCCTTTTCCTGAGAGCTTAGTATGAAATAGGCAGGCACTGTTCAACAAACTTGCACCTATAGCCAAAATTTGTGTCCAACAGAAACCCATTTACATGAGAGGCTGAGAAGTTTCTTAGCCAAGAACTCCTTCTAAGGAAAGATGAGTCGGACACCAGAGTTTTGATCTGATAATCAAGTATCGGGGCTGAAGGGAAGTGATAATTCTAACTACAGAGGAGTTGTCTTTGACCTGGAGCTGTTTCTAGTCTTATCTGATGAGGCCGTGTCTGGATTCTAGGAAAGGAGGGAAGAGTAAATAAAATTCTAAAGCGTTAAGTCATTAGAAAAATCTCCAAAAATTTAAGTGTAAGCAGACTTGAGTATTCTCCTAACAAAGCCTAACAGGAAGGGGAAAAAGACAACAAAACTATTACTGCAATCTCAATTAGACGAGAAGTTAGTGGGCCCCGGAGAAACTGGGTAATCCATAATCATGTCATTGACCTGTACTACAGAATCTGAGGCAGGTATGATTAACCTCATTTTATGGATGAGGTTTAGGAAGTGACCCTTAGCATGTATGCCACCCCAGGGGGACACCTTTCTTTGTATTCTATGAGAATTGTACCCCCTACATCACAACTGGGAGTGCTAGACTTGGCATCTAGGTCTGGACACTTCTGAGTTTATCCTGTTAAGCAGCCACCTGGATTTAAGCCACCCCATTCTTCAGGAGCGAACAGACCCAGAGAGCTGACCAGGACTTCACAATCGATGGCTCTGTAGGATATTTGTCAAGTTGATTCTACCAAGGAAGTTCTCTATTTCCTGTGGTCCTGGTGAGATTTTTATCCTCCCCTAGGTGCTGGGCTTTTGTTCCAGGACATCTCAGCCTTGAGCTTTGTTTGCTTGTTTACTTCCTCTCCTGCATCCTTGTTGAGGTTCCCAGCCACATTTTTCCCCTCTGCTTATTTATTCCAGAGCAACTGCCTGTGTCATTTCCTTTATCTCTGGCATGTCCCTTGGTTAGTGCTGGTGTTTCTTTTCTTTTCTTTTTTTCCCCATTGCCCAGGGCACTGTGAACAGTTGGCTGTGGTGTAGGATTTACAGACCTGTGCTATGAGATGTACAGACCTGTGCTCTGTACAGACCCAGGAAACGTTGGAGTACAGTGGGCTGACAACAGGGGGGCGCCAGCTGGGGAAGGCAACAGGCCTTAGTTCTTGAACAAAAATAGGCCAGAGATTCTGCTACAACTGGCCAAGATTCCGCCCATCTCAATGAAAGGAAACAGACATTCCCACATGCCCACGAGCTTTGAATGTGTATTTGGCTCCCTCAATAACTCCAGTGCACATTCCCACCCGGTCACTTTTCGCCCACGTTGTTATTGCTGCTGCTGGTTTTTTTTTTTCTTTTTAATAAAGGTCACATTTTATTAGAGATAAGAATAACTTAACAATGAAACTCTTGGTTCATCTGTTCTTCCAGTGCTTTTGTGTTCAGCTTAACATCTTCTAAACAGACATTTAAAAATGATTATTTTCTTCTAGTAAAAATTATAACATGTTCATTTTAGAAATTTTGAAAAAAAGCCATAGAAAAGTATAATAAAAATTCTAATTCCACCATCAAACATAATAACCACCATTTGTATTTATATTTACATATGTCCAGTATTTTTTTAAAAGCACAGGCACATATAGTTGTAAAAAATGGAAGGAATAGTGTTCACCTCATTTTGTTTCAGTAGTTTACTTGTTTTAGCAGCTTAGAATTTAGGTATTTATACAAAAAAATTTTCTAGATATTCATTTTTACATAGTTGAAAGAAAATATATTTTTAATTGAAGAATAATTTTCAGACCATACAATGTACCCACTTTAAGTTTTCAAATTATATGCCCATGTAACCACCATCAGGACCAAAATAAAAAGCATTCCCATCACTTCGAAAAGTTGCCTTGTGTCCAGTTCTAATGTCTACTTTGTTTCAGGCAACCACTGTTCTTTTTTCCACTATAGATTGGATTTGTCATTTTTAGAGTTTTACATAAGTGGAGTCACACCATGTATACTCTTTTGTGTCTAGCATCTTTCATTCAGCATAAATTTTCACACACTTATAACCATATACAACCACACTTGCATATATTTTTTAATTTGCTTTTATTTTACAAATATATTATGAACATTTTCCATATCATTAATTAGTCTCTTAAAATTAAATTTTCATTGACTAATTGTAACTTGTTTTAGGGATATACCACAATTTATCTCATAAATAAGATCTTATTGTTAATTGTTGGTGTTGTCTCAATGGTTTGCTTTCATAATCAAGAATAATTATTCTGGACTACACATGTTTGTGTGCATTACCTAATTTCTTTGGGATAAATTTCTATTTAAAAAAAGTTAAAAGTCTCACAAATTTTAATATGTACTGTGCCTATTTAATCTTCCACAAACATTATATACAAATTTATGAGGAACAATAGCATTTCAAAGGTGAAAGGGAACCTGGAGAAAAATATGGTTCAGTGGTCCTTAACCAGTGGGGTGGACATGCCTATGGAGCTCTTTTGAAATTCACCTGCAGTTATTCTAACTTGGTATTTATGAAGCTCAAGTAGCTGCTCTTTTTGTTTTTAGTTCTGCAGATGATTCTGTTGCACACTACACTGTAAGAATCACCTCAGTTTCACAGATGAAGAAGCTGAGCCACGAAAGGCTAATTAACACCTCCTGATTCCTTATACTCTTGTCACTTTGCCAGGGAGAGCCTTTGTCTACATTGATTACCCATCATCTGGAAAATGACAATAATGACCACCACCACTCCCCTCAGAAATCACAACTAACCATCTAGGTCCTCCGTTGGTGGACCTGTAAGCTAGAACAGCACTTTAAGTGATGGAGTTAGGACCACTTCAGAAAAGTCTTCATGTGAAAGGGACCCCAGACAATTGAAGAGAGGCCTAATTCAGAAATCTACTTAGAAGGTCCTCCCAAAAACTGAAGCAGACCTTTGTTGTTGTTGTTTAACCAGGCCAGATCTTAGGGGTAAACAATAGATTTACAGTGACAATAAACAGACATGCAAACACACACACACACACACACACACACACACACACACACACACAGAAGTTCCTTGACTTTGTCCCCACTCACTCTATAGCCACTCCAGCCTATTCTCAACCCCCAACTCTATCTCTTCAAATTCCTCTCAGAGGAGACTGAGAAGGAAAGAACTGTTTCTCCTGAGTGAAGGAGGGCATCCTTTACCTACCCTATTGGGTCTGTTGTTTCTTTTTCTCTTCTGTGGTCCACCTCCCAGAAGTGATGCTGGCTGTTTCTGCCATCTCCCACCATGGCTGTGGAGAAGCTACTGAAGGAAAATATCTTCTACAGCTTCTTCTCCTTCCAGACCCAGACTGCCACAGCTTGCAGTTCAGTCTATTACATTCATTTCTTAACTTCTCCAGGTTCCCACGGTCACCCTGGGGTGGGGCAAATGCTTTCATATGATTACCATTACAGGGGCTGCAAAGCAATGCTCCATTGAGCTGTCAATGTCTGACGGAAGCTTTAGTGAGTCAATTCTTCAAGATTTTTTCCACTCTTGATTGCAGTCCCTAATCTTGTGACTCAGACGTGAGTCCAGAGAGACATCTTGTTAATCTGTATTCTTTTCCTTTAGGATAAGTTCTTTCTCAGGAGTGTTGATGTAGATAATTCCCCATGGAAACAGACAGTTGGTCCACCCTTCTCAAGAGTTCCCAGGTATGCCTACCTCCTGGAGAGAACCCAGTGTGACTATCCAGATAGGATTCCTATTTAAGCCTACCTGGGCATCCTAAATATATTATTCAGAACACCATTAATTCCCCAAATCACGGTGTTTCACAGGGCAAGGAATCAAGATTCAGATGCAAATTATTACAAAGCCAAAGAAAAATAACTCTGGTGAGGGCCTTTAAGCTTTAGCAAATAAGAATTTATAGAAAGAAAAGTTCAAGTCAAATCATACAGGGCTCCTAAAGCACTTTTTAACACCTATAATGCAGTAATTTTTTTCACACACAAATCCCCAGAAGTTAGTTTAAAAGGAAATATCTTTATAAATTATGAAAGTAGGTTTGGGGGAGGCAACTTTCCCAACTCACAAATTCTTGTGCGCAAAAATGTTGCTCTCTCTGTTTTTCTAAAATTGGACTTAATTTCTACCTTGAATTCTATTTCTGCAGACTTCTCTAGGGTGATACACTACTCAGTGTTTTCTCAGTCATTTAAAATTTAAACTCAGCCAGATTAAATAACTCCTCCCTATCCCAGCAGCAGACTCAAACTAAAACATTATAGCATTGGTAGGAAGAGGAAGTAACCAGCTTCTGTAATATTTTATTCCAAATCCTTATAACTCCCACTTAGATCAAAGCTTTTGAACTTACAATTAAGAATATACAGTTTTGGAGTTTGGAGTATCCTCGCCACTCCACCATGGGACAAAGTCATCCTTATGTCTCTTAGCTAAGTGCAGAGACTGTTGTAGGATTAAAGCAAACAGAGGATACATTTCATGTTTTTTGTGGTATTTCTGTCACGTATCACCCCACTAGATAGGCCAGATCAAGGCCATATGAAGGCAAAATGAGGAAGAGTAAGCAAGGCTATAAGCATTGGCCATGGCCTTTCCTGTAGCCACTCGTCCTGTGACCCCTTGGGGAAAAGATTGAGGTTTCTGCTGGCTCTCCCAGAGGTTCATATGGGTGGGAGACTCTGTGTTCTGCTGTCACTGGCTTCTTTCAGGAGCGGAGGCCTGCTTTGTCTAGTACACTTTCTCCCCACTACACTTTCTCCTCCACAACTACACTACACTTTCTCCTCCACAACTCTCCCTGCTTCTCTCATTGGCCACATCATGTTCCCTCATTATCTCTAACCTCAGTCCAACTCTTTGCTTCCCCTCCTTCTGCAACAAGATTCCCATATATCCAATTCTGTATTTTCTAAATGTTATTATTATTTAATAGGTTTTAATTCTATAACCCTCCTTCTGTCTGACTTTTGAGTATATTTCCATGTTTCCCACATTATTTCTTCCGTGTGTGGTCTCTCTGAGAAAGAATGATATTGGGATGCATCCTGCAGTTGGCAGTCGATATATCTCTCTCTTCCATTAGATGATGAGTTCCTTAAAGGTAGGGACCATATATGACTCATCTCAGCACTCTCTACAGAGCTGAACACATAGTAGGTGTTCAATACACGTTTAGTGAATACTTAATGAATGCATCCTGTCTGCTAATAAAGAACTCCAAACATCCTCTGAAAACAATCACCTGGGCCGGGCACGGTGGCTCAGGCTCATGCCTCTAATCTCAGCACTTTGGGAGGCCGAGGCGGGAAGATCACGAGGTCAGGAATTTGAAATCAGCCTGGCCAATATGGTGAAACCCCGTCTCTAGTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAGGGTGGGGCAAGAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAGAAACAACAACAACAACAACAACAAAAACCCAGTCATCTGCTTGTAGTGCATATACTCAAGGTGAAAACCACAGGCAATTTGCAGTCATCTAAATAATTTATCATTAATTCCTGATTTGCTAGTACAAGAATATATTGTTTATTTTTTTTTCCTAAGCAATGATTTAAAGCCTGTAGATCAAGAGACTTTGGAGTCCTACACTAACAGTCAGCTTCCTTGCTCGAGTGTGTGAAAGGCTACTGATTTCCTAATATCACAACAGAGCCTCAACAATAATACTGTTTCCTAAGAGCCTCAACAACAATACTATTTCCTAAGCTACACTCCAGTTTTTTCCCTCTATTTTCTGGGATTGAACTACATAACAGGTATTATGAATTAAATTCACTGCTTGCTGTGCACCTATTACCATATACACAGAAGTCAAAATACAGAAAATAGTAGCATATGACAGTCTCTCAGTCCTTTACCCAATGTTTACAATGTGATTTGATTGAAAGAATTCTAAGCACTTTGTGGGTTTATAGATCCCTTTAAAATTCTTTGAGTTATGCATTAACCTTGACTTAAAGCTGAATACACTAACATTTGTTTTCTGAGCAATTTATCCAGTGTTGGATATGGTAGGTAGCACAGAAAGAAACAGTATCTAAATTCTTTTATTTGCAACCTATAACATTCTGTTTGTCTGATTATGTTGTGTTTTGAAAGGCACTTGTACTGATAAAGCTTGTAGTAGTACTTACCAAAATGAATTAAAAATAGGCTTAAGCCAAAGTTCCAAATACAGTTTATTTTAGAAGACAGAAGGACAACTAGACTCTCACCATCTCCAAAATTATAAAAAAAAACTATGAGTTATTGCAAATACTTAGAAGTCATGTTTTTCACTGTGTTTTGCTTTTCACATTTTAATATTCACTGAAACACTACTAGTTCACTTATTCTTACTCCTTGAAATAACAAAGAGCTGTGACTCAGTGCCAAACCGAAACTAACGTCAACATTAACTGATGCAGTCTTGTTAAGTAAGCTTAGCAAAATATCTGTATTCCAAATGTTAATAAATACCAACTGGCCTTTACTAGGGTAAAGTTAGAGATAATAATGTTACATATTAATGACTTTCTTCCACTAATGAATAGAAGCTATTCTCACTAACTAAATAGCATCACTTGGAACTGGAATTTTAGTTGAATGTTTAATAATTTTGAGATTAAGTCAAGAAAACGAACAGAAACAATTGATATTTGTGGGGCCATTGATAATTCTGAAGTTTTCCCAATAGTCAGCCCTCAAAAATGCAGTCTCATAATTCACAATATCTGACTTGACTGTCAGGACTTGTCTAATTTGGCCATGCCAGCTGGCAAGGATATTAGCCTCTTCTCCCGGAACATCACAAGCCACTTGGATGTAGTAGAATTCAGTGGTTTGAAGCCCCGGCTTTAATTCTAGCTCATCATTTTATTATCTATGTGGTCCTCAGCAAGTTGCTTAATTTCTCTGAGCATCATTTTTCTAACTTGTAAAATGGGGTTCAGAATATTTGTCCTTATATAAGAATTAATATAAATGAAGTGCTTAGTGTGGAAATAATTACTGCTCAATAAATAATATCTAGTAAGCAGATTTTTATTGAGGATAAATACTCAGGATGTGATTCTCATTCTGTATTATTTAGAGTCAAATGTGACAATGTTTGGTGTCAGCATGAAAAACCAAGAGTAATGTAAATATTCGGTGAATGATTTGACAATAGTCATGGTTGAGAAGACAAGATTAGTAGCAGAAGAGGGACAACAGACGTGGAAAGCTATAAAGAAAAAGTGTTTTTTTTTATATCTAAGAAGATTTTAATCTAGAAATCTTTATGAGGGGACAATCTTATTGTGCCAGAAGAACAAGTATTTATTGGGAATGTTTATATGCAAACCCAGATGCCATAAGAGACATAGTGAAATTTATTCAGTAAGTATTTATTGTGTGTCTACTATGTCTGGGACTGTTCTACATACTGAAGTAGGAGCAGTGAATAACCAAGTCAAATTCTCAGCCCCTGTGGAGTTTACATTCTGGTGTAGGAAATACAAAGATAGTATTCCTTTTTTCAAGGCATTTACTATTTCTGTAAGGAGACATGAGCCTTTGCATTAAAAGAGTATAAAATAACAATAATAACAATAATTGCAACAAATGACACGAAAATATCCCTAGGAGACTGAGTGGAGTAGTGGAAGGAATTCAGGTTTCAGCAACCAAGAAATCTGAGCTCTAATCTAAGTCCTGACGGCGCCTTTGGACCTTGGGACAGTATAGCATTTTATTCAAGTACCATACTCTCTTCTGTAAAATGAGCACAATAATAGTTACTTTATAAAGCTGTTCTAATGACTAAATGTGATTACATGTGTAAATCCCTTTATAGAGTAGCACAGATACATGAATATCCTTACTGAGAAGGACAGTTGATTGATGCCTCAAAAGACGGCAGGATTTGGCTAGACAGAGAAGAGAAAGAGCATTCTAGGCCAAGAAAAGAGCTTGATGAAGGACACAAATTTGGAGTTGCATACAGAGTATTTGGAAGAAAGTGAGTGGGATAATTTGGCTACAGTAGAGAGTTCACATAGATAAGTAGGTAGAGAAACAACTCAAATAATAGGTGGTTCTTAGATGACTCACAAAGGAATTTCTGAGAGTTAGAATAGCTCTCATGCATATGTAGACACTGAAACACAGTGTAATTAAGTGAATTACCCAAGGTTATATCATTAACAGTGAAAGTAGAATCCCAATATCCATCTGGCTCTTTGTCTCCTTGATGGCCTGGCCAGTGGTTAAGACCATGTATTATCAATCTCCTTGTCAATTCATATTTGAACACTCATAGTCTGTTAGGCAGTTTTTATAATATACAGCAAATATTCTAACCAGCCCTCTAGTTTAAGTATTGCATTTATGGCAAGAAAAAGCAATTCTGAAACAACCAAGGGGAATGAAAAACAAGCGGCTATTTCTCAAAAATGAGATGGTGCTTTGCAAAAATGAACTAACTTTATGATGCCATCTGGAAAATGCTTTTGTATTCCCGATACAGTGCACTGAGCATAACTTAAAGTTGACTAACTAGCTCTGAAATGCTCTCTTCTGTTTCCTCACATATGGATGTAGCCTACAGGAATAAGCGTTATTAGTCCTTGGACAGGACATCTGGTGTGACTTCTCAGCAATAAGGTGTACAATTCTTGGGTGAATTTCAACAGAGCACATCAGCCTAACTTTGGAAACTTTTCAGGGTTGAGCCAGTCCATGGTGATTGACCTTTTTCAGAAAGAAACTAGGCTTCCAAACCAAACTCTAATCATGGAGATTCTGTCTTCCTTCTATCCCTCCTTTCCTCCTTCTCTTCCTTCCTTCTAACATTTAAAGTCTTAATTCTGACATTACACACAGTGTAATGCACAGTGGTATACTTAGACAGAATTAAGACTTTCAAATGAAATTGAACCCTAAGATGTTATATCATAGTCAGACCTCTTGGCGCTTAGGGTGGCAGATGTTCCTCACAGTTTCTTCCAAAGTAGCAACAGTCTTTTTGCATAATTTATTGTAATTGGATATTGGAATTATGAACAGAGAAATTCTTCTCTTCTTTAAAAATTAGTAATAGAACCTAATTGTAACACCAGTAGCTTTAGAATCTCTTAAAGGAAAAAACCTTCATTAATTTGCTAAGAGATTAAGCTGAAGCTAACTTTGCTTTATAAAAAAGTTGCCAATAAAATAGCCTAATACTTGCATAGAGGAACATTTAATTTACTGAAAAGAACAAATTGCCTTCAAACAATTTAAAACACCAATTAATGGATAAACAACCAATATGTTAAATACAAATCATTCTTCTCTATTTATTGAAGTAGCTTCCCAACTCCTTTGCTTGACAACACTTAATTAGCCTAACTTGAGTTGCTTTATTTAATTGAAATTAATAGAACTAGGTTTCCTTTAAAAATATTACTTTGTTAAGACTGATTCCCTCATTTAGTCTAAATAGTGATTATTAATAAAATCTGCTTTTAAAAATATTTTTGACATTTACAATAATAATCAACATGTTATATATTTACATGAGGACTGATTATTTGGTTGTTAGTTATGTGGACATTTTTGCCTCAGTTTAACTCTGACTACCCTTTTAGGGGGTGGAAAAGTTTCCTTAGCCACTCTACAGACAAGACAGAAAGTAAATCTAGGGACTTTGGCTAACAGTCAGTATCTCTTATAAAAATATTTCCTTGGAGAGAATGAAGGTTGAAATGCATATCTGAAATGATATATTGGTTTTCTATGCTGTGATACTATGGCCGGCAAAAATGATGGCTTGGTCATAAGTCAATTTATTCTTATTGTAAAGGGTCTAAATACAGGGAAAGTAGAAATACTACATCCTTTGGGATCAAACAAAGTTGTTTCAACCCTAGCTCTACCATGCGCTATACCTGAAAATAAACTTCTCCAAGCCCCATCTGAGTATAAGATTCAGATAATAATAGCTATTTAGCAACTGCTAGATCACATTTATTGGTGTGCTCACTACGTGCCAGAGACTGTTCTGGGGACTTTATGTATGTTAGTTCATTTAATCCAACCCTCAAGCTTATGAGGTAGATATTTATAACCCCATTTTATAGATGAGGAAACTGAGTCACAGGGAGGTTAATGAACGTGCTCACAGTCATACACTAGCAAGTGGGGATGCTTGGGTTCTAGCAGAGACAGCCCAATGCCAGACTTCACTTTCTAAAGAGTTCTGGAATTTGAAGTGAAGATTAAAGTGGTTAACCTGTATAGAAGGCTGGCGTATGACCTCACACAGGGTAAAGTCTTATTAAGTGGATTTCTCTTAAAATTTCTGGCTACTTCTCAGCCTCCTTTCTGGCTCCTTTTCCTATTCTAGGCTTGAAGATATTGGACTTCTTCAGGGAGTCTCTCCTGGCGCCTTCCCGTCTCTATCCACACTCTCCTCTGTGACCTCCTCCACTACCAAGCCTGTAAATACCATTGCTATGCTGATGGCTCCCAGTTCTCCATCTCCAACCCTAGCGCTTCAGATTCATACTCTCTATAGCTTACCTGTCATTTACATTATATCTAACAGGCAACTCAAACTTTCACAGCCCTGAACATCATGTTCAACTTTTCTCCTTCAAATCTGCTTTTCCCTTCAGTCTTCCTCATACTCAGAATATGGCACCACCATCAGCTCTTTTGCTCATATCAAATCGAAGACTCATTCTCCCACATCAAATTCTTCTGCACGTCCTGCAGATTCTACCTCTACTTTTCTCCATTTGCACTTACATAGCCCACTCCAAACCACGACTCCTCTTGTTTAACTACTCTGAGAGCCTCCTAACAAGTCTCCCAGCTGCCTCTCTGGCCTTCCACATAAATCCACTATCTGCCCAGAAGCACTGTGTTCATTTTTCAAATATAACTCAGATCAGGTTACTCCTCTCCTTAAAACCCACAGATATTCTCCCACTGTATTTAAATTAAACTCAAACTACTTATTATGGTTCACAAAGCCACGTAAGATCTGGCTTCGCCAACGTTGCTAGCTTCATTCCAATCAATTCTTTTCTGCCCATTATCTCCAGCCACACTGAGCATCTGCCTGGGTCTCAGATATTCAGGCTTATTTCTGGTTTTGGGCCTTTGCCCAGCTTTTCCCCCTTCTGGAAACATGTTCTGTCTGATCATACAGTGGTTGGCTCTTTTATCTCTGTTTCCAATTCAAATGTCACCTCCACAGAGGCTTCCCAATGGCCCAATTTAAACTAGTTCTATCATTTCACTCCTTTAAATTCTCTACACCGAGCTGTTTATAACCTGATACTGGTTTTTATTGTCTGCCCGCTATTTCTGACAGCAGCAACAACACATACACATGCATGTATGCACACATGAATGCCTAAAAAAGGAAAATTCCATGATAATGAGAATATTGTCTCTTTTTTGTTGTTGTTCTTGCTCTGACTCCAACACTTAGTTTGCAGTGGCCAATGAAAGATATTCATTGAATTAATGATTATATTAAATTGAAGTGGCTGTTATTAATGGTCCTTCTTAAAGCCAAGGATCAGTTTGTATCTTTTACAGCTCTTACCATATTTTATGATAGGACTAGGTTTGGCCCAGTTAACTACATCAGTTTTGGGAAGACAGAAGGGTGCAAAAGGAGAAACAATCTATTTTCAGAAGCTGAGCAGCCATCTAGATTGCTACACAGAATTCAGCATCTGGTGAGAACAGCCCTAAAATGCAAGTGATACGAGGTAAGCAATTAGCATCTGTATTCCAACTTGAAGCAACAGTAGTCCTCAAACCAGTGACAAGAACTTAGTGATGGAAAATTCACATAGGAGACATTTAGAAGTGCATGTAGGGAGACATACATGATAGTCTTTGAGCAGAAACCCAGATGGCTGACTGGAGTTCAGAAGTCAGGTTTCAAAGCCCAGGCCGGAAATAGGAATAACAGACACTAAGGGTAGAGCCTCATTTCTACAAGAAATGGGAATTAAATTTGCTGACAAACTTGAGAAACTCAAGCTCAAAGAACAAAGCAGGTGCTACATATCAGCATAAAGCACAAAGTAGGAGGGTGGCCTTGAGGCAAGCTGAAACCCACCCTGCAGGTTGGACTGGCTGCAGGTGACTGCATGCTGAGCATCAGACTAAAGTGCAGGGAAGGAAGTCATAATGCCAGGCCATGTTCCCATAAACGGGCAGTCCAGTCAGATGGGAGGTCTCTATTGATCGCCCTTTACTGCATCATAACAGTGTCAGACATGAGACCTGAAAGCCCATCTTTCTGCCTGCTGCACTCGATCAATATGATAGATCTTTCCCTTAGAGGCCTGTCTGAATCCTATTTTCTGCCTACACACATGTGGAGCTAAATTGATGATGATGACTCATGGGCTTCAGAGCATCTGTAAACTGTTATTATCACCATCCACACCAGCACTTTATTGATCTCCTCTATTAGGCATTGACTCATTTTATGACCACCCTTTTTTAGGAAGCCAATAGGTTAACCTCTTTCCTCTCTACCAATACTCAGGGTAAATGTAGACCCAGTCAAAGGTGGTCCGTTTCTGGTTACGCATGAGAGTCATAACAGTTATTATTAGAGCCACGTGCATTTAAATATTTGTATTAAAACCAAAACCCTCATGATATTCTTTCCTTAAGGTTTAGGACAAAAAAGAGTTATCTTGGAGATAACTTCATCACACTGGTATATGAACTGAATTTACCAAACAGTTAAATAAACATTACAACTAATTATGAATATACAAGAACAAACTTGGGTTTGACCACGGATTGCTCTTCATGCACAGATTGCTCAACATTCTCTAATCAAGGATGATTAGAAAAGTATTTTAGTCCTGCTATTTTAATCTGCTGTAACTTTTAGTTTGATGTTTTCTTATGGGGTCAGCAGGGGGCTGACTCCCTCTGTGGTGACTCAGTGCCTAGTTATTATAATTTCAATCAGGCTGCTGGTGTCCTCTCTGCAGACTTGCATATCTTCTTCATGTTGGCCTATTCAGCGTCTCCATTAATATCTGGCACACAGTGAGCACTCAAGAAATAAACATGAAAAGAGGGAATGAGTGCTCTCTCCTTGGGAGTATTAACTCTTTACTACTCATACACGTGAATTCTATAATCATAGTCCTGGCCTAGAGTTTTTTAAGCAATGTAGAATGGAAAAGGTCTGATTGCTGCAGCACCAGGAAACTTTGACAAGCAAATATTTAATAACCATTGAATAAAACCTGAGGTTATCAGTTCTGTGAGACCCATATGACACATGCATATATGTATACGCACAGATAGACATATAAGCATGGGTATTTAGCAAATGTTTGCCTATGTGTACAGTGTATGTACTACAGGGTTCATCCAATTAGAGGGGTGATGTTCATTCCTACTGTTTTTATGTCTTCTCTTCTACACAGCAAATAATTATTTGTTGTAATCCAGTTCATATGCAATGCTTTAGGGAAGGCAAAATAACTTTAACCTTGCTGCTCTTTTTACCTACATCTCACATTTTCACTTTTACAAACACCAGAACTCTGATGTATTCTGAAACATTCAACATTTGTGCAAACTTTTTTGGAAGAGAACAAGCTACAAGGATTAAAGCATATTTGAATAAGAGAGAAAAATCTAGTGTTTCCCTATTAGGGTCAATAAAGCACTTGAAAAGCATGAACACCATTCTGGGGAGAGTAGCTGGGTTGAAGGCAATGCCATCAGCAAATAAAGGAATCCAAGCAGAGGAAGATCCAAAAATGGATTTTAACATAGACCTGTTGGATGGTCTTCATCTAGCCAATGTCCTACTTCATTAAAACATTATCTCTCTGTTTAACAGCTCATTTAAACATTTTCCACTTTCTTTAAAGAAAAACTCCTATGTATATGATGGACATAGAGATCACAACATTCAAAAAAGTGATTTTTCTCTGGAGACTTTTTTATGTTGTTAGATTTCAGTTGTGAATGATAAGTAGAGAACTTCAGATGTTACCTCTATTTAAACATCTGTTCAGCCAATATGTGATTTCATATTATAATCTGCTTCAGCTACATTTGCTTACCCGTTAATCAAAAACCATAAATTCTGCGTTGCACAATAGCTTTTTGGTTGTTGTTTGCATAGTTTCAATATAAGAATGCATATTTAAATGATTATCAGATGATAAGCCTTTATGAAAGTTTCTGCAATGGAATGCCTATTTTATGAATTTTTATGATTAAAAGGTATTATTACAAAAGTAATCTGAGAAGCTAGGAAACTAATAGTAAATTACATAATTATTTACCTCCTATTCAATATATTAAAAATGAAATTCCATTTTATGAGAGAAGGATGACCAGATAAAAAGAAACAGAAAACATTAAATCCTTTCTCTCTTTTCTTTCTGATTTTTCTTATAGTATATTGGATTGAAAGTATTTTCCTTAAATTTATGCACTTTTATAGTTTATCTTTCTATCCTGTGTTGTTTTGAAGAAAGTAAATCAGCAGTATCTAAATCTGTAGGATTTGCTTCCCTGGCTTACTAGTCATTATTGACATCAATAGGGTCTTGCAGATAAACCTAAATGAAAGTGTTCTACATCAAGATCTATCAGCTCTTTATCAGTTATCCATTTTGAGACATAGAAAGACATTTTTATTTCTGTCACTTGGGCTTGGTTCTTTGGTCAATTTCTGCAGAATTAATTAGAACTTTTCTTGTTACTCTGTAAATAGATTTTTCTAGGGTCTTCTTGCAGAAGAAAATTATTTTATGTTGGAATTCTCTGAGCAGTCACAGAAAGTCTGACAGTGAAATGGAGGTGACAGGAGTCTGTTTCAGGGAGAGGTACCTTTATGCTGATAGGTGAATTTTTTTTTTTTTTTTTTTTACTTTAAGTTCTAGGGTACATGTGCACAACGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTACATTAGGTATATCTCCTAATGATATCCCTCCTCCCTCCCTCCACCCCACGACAGGCCCTGGTGTGTGATGTTCCCCTTCCTGTGTCCAGGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGTGATGTTTGGTTTTTTGTCCTTGCAATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCACGTCCCTACAAAGGACATGAACTCATCCTTTCTTATGGCTGCATAGTATTCCATGGTGTGTATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATATGTGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATTGCCACACTGTCTTCTACAATGGTTGAACTAGTTTACAGTCCCATCAACGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGCTGTTTCCTGACTTTTTAATGATCACCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTTTTCATGTGTCTGTGAGCTGCATAAATGTCCTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTCTTGTAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCTTTTGTCAGATGAGTAGATTGCAAACATTTTCTCCCATTCTGTCGGTTGCCTGTTTACTCTGATGTTAGTATCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGTGTTTGGTGTTTTAGACGTGAAGTCCCTGCCCATGCCTATGTCCTGAATGATATTGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTACAATTTAAATCTTTAATCCATCTCGAATTAATTTTTGTACAAGATGTAAGAAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGTTGGTTGTAGATGTGTGGTATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTTGATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGCGTGATGCCTCCAGATTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCAGGCTCTTTTTCAGTTCCACATGAACTTTAAAGCAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGACATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTAATTCTTCCTATCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTCTTTTATTTCGTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTTAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAACGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGCACGTTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACAATGGGGTTTTTTAAATATACATTCATGTCACTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTGATTTCTTTCTTCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGAGGGCATCCCTGCCTCCTGCCAGTTTTCTAAGGGAATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTAATAAATAGCTCTTATTATTTTGAGATACATCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGAGCTGTTGAATTTTGTCAAAGGCCTTTTCTGCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGTTGTGTTTATATGCTGGATTACATTTATTGATTTTCATATGTTGAACCAGCCTTGCATCCCAGGGATGAAGCAGATTTAACAGTGGTGGATAAGCTTTTTATGTGCTGCTGGATTCGATTTGCCACTATTTTATTGAGGATTTTTGCATTGATGCTTATCAGGGATATTGGTCTAACATTCTCTTTTTTTTGTTGTGCCTCTGCCAGGCTTTGGTATCTGGATGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTGTTGATTGGAATAGTTTCAGAAGGAATGGTACCAGCTCCTCCTTGTACCTCTGGTAGAATTCAGCTGTGAATCCGTCTGGTCCTGGACTTTTTTTGGATGGTAAGCTATTAATTATTACCTCAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGGGTGTATGTGTCAAGGAATTTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCATAGAGGTGTTTATAGTATTCTCTGATGGTAGTTTGCATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTTTATTGCGTCTATTTGATTCTTCTCTCTTTTCTTCTTTATTAGTCTTGCTAGTGGTCTATCTATTTTGTTGATCTTTTCAAAAAACCGGCTCCTGGATTCATTGATTTTTTTGAAGGGTTTTTTGTGTCTCTATCTCCTTCAGTTCTGCTCTGATCTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTTGCTTCTCTAGTTCTTTTAATTGTGAAGTTAGAGTTTCAATTTTAGATCTTCCCTGCTTTCTCTTGTGGGCATTTAGTGCTATAAATTTCCCTCTGCACATGGCTTTAAATGTGTCCCAGAGATTCTGGTATGTTGTGTCTTTGTTCTCATTGGTTTCAAAGAACATCTTCATTTCTGCCTTCATTTCATTATTTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGTGGTTTTGAGTGAGTTTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGAGACAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGTGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGTAAAGAATGTATATTCTGTTGATTTGGGGTGGAGAATTCTGTAGATGTCTATTATGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGATATCCTTGTTAACTTTCTGTCTTGTTGGTCTGTCTAATGTTGACAGTGGGGTGTAAAAGTCTCCCATTATTATTGTGTGGGAGTCTATGTCTCTTTGTAGGTCTCTCAGAACTTGCTTTATTAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGTTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGATAGATCTTCCTCCATCCCTTTATTTTGAGCCAATGTGTGTCTCTGCACGTGAGGTGGGTCTCCTGAATACAGCACACTGATGGGTCTTGAGTCTTTATCCAATTTGCCAGTCTGTGTCTTTTAACTGGAGCATTTAGCCCACTTACATTTAAGGTTAATATTGTTATGTGTGAATTTGATCTTGTCATTATGATGTTAGCTGGTTATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGCATTGATAGGGTTTACAATTTGGCATGTTTTTGCAGTGGCTGGTACTGGTTGTTCCTTTCCATGTTGAGTGCTTCCTTCAGAAGCTCTAGTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTTGCTCGTCTGTAAAGAATTTTATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGATTAAAAATTCTTTTCTTTAAGAATGTGGAAGATCGGCCCCCACTCTCTTGTGGCTTGTAGAGTTTCTGCTGAGAGATCCCCTGTTAGTCTGATTGGCTTTCCTTTGTGGGTAACTCGACCTTTCTCTCTGGCTGCCTTTAACATTTTTCCTTCATTTCAACTTTGGTGAATCTGACAATTCTTGTCTTGGAGTTGCTCTTCTCGAGGAATATCTTTGTGCCATTCTCTGTATTTCCTGAATGTGAATGTTGGCCTGCTTTGCTAGGTTGAGGAAGTTCTCCTGGATAACATCCTGCAGTGTGTTTTCCAACTTGGTTGCATTCTCCCTGTCACTTTCAGGTACACCAATCAGACGGAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGATGCTTTGTTCATTTCTTTTTACTCTTTTTTCTCTAAACTTCTCTTCTCACTTCATTCATTTGATATTCAATCACTGATACACTTTCTTCCAGTTGATCAAATTGGCTACTGAAGCTTGTGCATTCATCACGTAGTTCTCATGCCATGCTTTTCAGCTCCATCAGGTCATTTAAGGACTTCTCTACACTGGTTATTCTAGTGAGCCATTCACCTAATCTTTTTTCAAGGTTTTTAGCTTCTTTGTGATGGGTTAGAACTTCCTCCTTTACCTTGGAGAAGTCTGATCATCTGAAGCCTACTTCTCTCAACTCATCAAAGTCATTCTCTGTCCAGCTTTGTTCTGTTGCTGGCGAGGAGCTGCATTCCTTTGGAGGGGCAGAGGTGCTCTGATTTTTAGAATTTTCAGCTTTTCTGCTCTGTTTTTTCCCCATCTTTGTGATTTTATCTACCTTTGGTCTTTGATGATTGTGACGTACAGATGGGGTTTTGGTGTGGATGTCCTTTCTGTTTGTTAGTTTTCCTTCTAACAGTAAAGACCCTCAGCTGCACATCTTTTGGAGTTTGCTGGAGGTACACTCCAGACCCTGGTTGCTTGGGTATCAGCAGCGGAGGCTGCGGAAGAGCGAATATTGCTAAACAGCAAATGTTGCTGCCTGATCCTTCCTCTGGAAGCTTTGTCTCACAGGGGTACCTGGCCGTGTGAGGTGTCACTCTGCCCCTACTGGGGGCTGCCTCCCAGTTAGGCTACTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGTCCATTCTCAGATCTCCAGCTGCATGCTGGGAGAACCACTACTCTCTTCAAAACTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTTCTGCTGCCTTTTGTTTGGCTATGCTCTGCCCCCAGAAGTGGAGTCTACAGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCGGCTTTGTTTACCTACTCAAGCCTCAGCAATGGCAGGCACCCCACCCCCAGTCTCGCTGCCACCTTGCAGTTCAATCTCAGACTGCTGTGCTAGCAATGAGCGAGGCTCCGTTGGAGTGGGACCCTCTGAGCCATGCAGGGGATATAATCTCCTGGTGTGCCGTTTGCTAAGACCATTGGAAAAGTGCAGCATTAGGATGGCAGTGACCTAATTTTCCAGGTGCCGTCTGTCACAGCTTCCCTTGGCTAGGAAAGGGAATTCCCTGACCCCTGCACTTCCTGGGTGAGGCGATGCCTTGCCCTGCTTTGGCACATGCTCAGTGGGCTACATCCACTGTCCTGCACCCACTGTCCGACAAGTCCCAGTGAGATGAACCTGGTACCTCAGTTGGAAATGCAGAAATCCCCTGTCTTCTGCATCGCTCATGCTGGGAGCTGTAAACTGGAGCTGTTCCTATTTGGCCATCTTGGAACCCAGCCCGATAGTTGAATCTTATGGGATAAGGGAATCTAAGCTCTTCAAAAAACAAAGAAACCCAACAACTTACAAATATAAACATGAACATTTTAATCAAGCTTGCATGAAATGAAAGTATTTGTAGATCTGTTTGAAGCACATTTTTATGGTTAAAAAAAAAACATGGATTTTATTTCCATTGAAGATTATTGAGGATTTCGGGTAAATCATCTTCAGCCTGAATCCCTTCTGCTCTTCCTTACCCATAATGCTCCTGTGTCATGAAGGGTCTTAATGCTTATTGAGCTCTGTTAAGTTTTCCACAATTAAAACTCAAATTATCCAGCATTTACTTTTAATCAATGCTCACTTTATTTTCTCATTTAAGGAATCATTTTCTCATAAGTGGAAAATAAATTACAGTGTTCCTCTCCCAAGCTCCTTCTTGTCTTTGGACTATATAGTTTCTCATGCATGATGTGGATTATTGATTAATTCCCACTAACACCAAGTGGAGAGAATAAGGACATTTATATCCTCACACAGATGTATACACAGTTACACACACATGCACACACACATACCTTGAATATACATACTAGTGAAGCAGTGATATTTGGGTGTGCATGTCTAACACATTTATTATTTGATAATCTAAACTTCCTTCAGATGCAAGCAGAGAACATGTATATTATTTTTCACAGCTTTTGATTTGAATCACTCAGTAGGCTCCTCTTTTCTCTGAATAAAATATAAGAATGTCCCCATAGCACTTCGAGCCATATTTAGATACCAACAAATTTTGTTTAAAACCAGATCATTTTAATATAGAGGGAGTATAGCTCCCTCTTTCTATATCCTCTGCTCCCTCTATGTGAACTCTAGAAGTCCTCTTATTTTTAGACATGTTTTAGCATGAGCAACATATCCTTCTATCTTTAAACTCCAGGGAACGCATGTACACTAAGTGATTCTTTGGAGTTCCATTCTCTTGACTTGTGAGAAAAGGAAAGCATCTCTCTTCCTCATGGAGAGGGGTAAAAATATAATAATCCAACCTCTCTCTCTTTCTTCCCTGCTACCACCCAATCTTCTGCAACAGCCACAATGATGCTTAACTTCCTGTTCTATATGCTGGAGGTAGGTGATGGGTGATGTACTGGTGCTAGCAGAACCTGTCTTTGGCCACCTAGATTTGGAAGTCCTATATGTGGTGGGAAGAAGATGTTTAAGAATCAGGCTTCCAATTTTTTCTCTCCCTTTATGGTGGGTTTGGGGAGATGTTTTTGGGAAAAAAAAAAGGTTCCCCAGTGGATAGACTTCTTAGAAAACAATGATATCTGCTTTCAGGGGACTCATCATTAATAGAAAGCTTTCAGCAAGATATATCTGATCTTTCTAGGATTATTTACAGAAAACAAACAAACAAAGCTGGAATCCATGGATTTATGAGGCATAGTTCTCCAGAAAATATCGTGTAAGCCAAATAATGATTTAAACATTAAATGGAGATTTTTCATGACCAAAACAATACCTTTCCATGTAAGTAATATGTCTCCATATACAAGATAAAGTAACCTGAACCAAAGTGCATCTGTCTGTAGTAAGAGAGGCCCTGGGAAGCTGCATGGGCAGTCCTGAACTTCTCTCTGCTTTGGCTCTGCCTCATGATTATTTGTGTCCTTCAAATTATTATGAAAGCTTGAATTTGCAGAACGCCTCTGATTCTTAAGCATCTGAACAAACAGACCAATTTTCTGTGTTATCTCAGATGGTCTAACCCTTTGCTTTAGAAGGTAGACTTACATTTCATTTTTTTTTTAATGTTTGGCATCAAAAAAGGATGTTTCTCTCTGAGATATCCTTACTTCATATGTAATAATAAAGGAACTTCTTAATTTTGTTTGGTTTTGTTTAGGGATCAAATCTAAAAAGTGCTCTTTGAATGTTAGGTTTTTCCTGATTCCAGTATACAGGATGCCACACCTTGAAGGTGGCCTCTGTAACTGATCTCCACTAGACGATGAACTTCTTAAGGGCAGGGACCACATAGGAGTCACCTTAGGATCACTGGCATCTAGCACAGAACGGATGTTCAAAAAAATGAGTAGTGGTGATTTTAGTTGGTGTTCAGGACCTGTTGTTTGCTGGAGTTTATGAATGAGGAATGGGCCTGAAATAATATTTAATTGTGTCTCAAGGGCTTTATTTTTGGCTGTAGAATAGGTTGTGGCACAAGCCTGGGAGTAGAGAAGGTAGAAGGCACCAGAACATAACTGATATATACTCCCCTGCTGTATTACTCCATTCTCACACTGCTAATAAATACATACCCAAGACTGGGTAATTTATAAAGGAAAGGGGTTTAATTGACTCAGAGTTCCACATGGCTGGGGAGGCCTCACAATCATGGTGGTAGGCAAAGGAAGAGCAAAGAGAGAGAGATGTGCAAGGGAACTCCCTTTATAAAACTATCAGATCTCATGAGACGTATTCATTATCATGAGAACAGCACAGGACAGACCCGCCTTCATGATTCAGTTACCTCCCACCGGGTACTTCCCATGACACATAGGAATTATGGGAGCTACAATGTGAGATTTGGGTGGGGAAACAGACAAACCGTATCACCCGCTAAACATCATGCATAAATTTCAGCCTTATACAGTGAAGGGAGCCGTTTTCTGATTATACTGAGATTTGGGCATAAGTCATTTCGCTTTGGTTGCAAATCATGTGATAGATTATGGAAGAAGGGTATTAATATAGTTTGGCTCTGTGTCCCTACCCAAATCTCACCTTGAATTATACTCCCCATGATCCTCACGTGTCAAGGGTGGGACCAGGTGGAGGTAACTGTATCATGGGGTGGTTTCCCCCATGCTGTTCTTGTGATAATGAGTGAGTCTCAAGAAATCTGATGGTTTTATAACTGGCATTTCCCCTGCTACACTCACTCTGTCCTGCCACCCTGTGAAGAAAGTGCCTGCTTCTCTTTTGCCTTCTTTCATTATTGCAAGTCTCCTGCAGCCCTCACAGCACAGTGGAATTGTGAGTTAATGAAATCTCTTGTCTTTATAAATTCCCCAGCCTTGGGTATTTCTTCATTGCAGCATGAGAACGAACTAATACATGTATTCTTCCTTTTATTCTTGGAGCAGTATTGTTCAGACAGTGTGATAACCAAGGGATCATACAGCATTGTACAGTCAGTTGAACTTTTGGCTGTGGAAGTGCATGAAACCCCTGCCTTGTCAGGAATCAGTATTCTCATGTAGAAAGCAGTAGTCATATGATAGATGTTATTCTCAAGTAGCATGGAAGACAGAGGCTATCAGTAAAAACTGCATACTAGAAAAACACAAAAAAATTGTTTATGACCAGGTAGAGGAAACATCTGTGGATTTACAATACAGACAAAGAAACTAGAGAAAGTTTCGATTTGGATGGCAGGGGGAGGAGGTTCAAAGTTCTACATCAAGCAGGTTGGAATAGTGAAATAATGAAATACATGTATTCATGTCAAGGTGTTATTTGTTGTACCAAGAGTCTATTGGACTCTGGAGAAATATTGATTACAAAAATTGGCTGAGTGAATGGAAATATCCAAGTGTTTATTTTTCTAAGTCCAATACAATAAAAAAGTTCCAGATAATATTACACAAGAAAAATTTTAAATTGGGATTAAATAATAAAAGGAGATCAAAGAGGTCATAAACTTTGATGTGTCTGCTAGAGCAGAGTTAGGCTGAAGACAACAGTTTATTTCCAAATAGAGATATTATCATGTGTTGAGTGACTTACAAAATCACTGGAAAGGTTGTGGAAGAAAGCTCTACCCTGAGAGTCCAGGAATTTCTACCAGTGGTAGGGAAGCTTCCACCTGAGCTTTCAGCAAGCCATCACATTAGGAAATCACTAACCAGTTTGCACTGTTTCTCACAATTTACAACAGAATGAATGCCTTATGCTCTGCTCCTCTCCCCACTCAATTCAGTTTCAAATCCAAATCTCATACAAGTGCATCAAGTTGGTAGAACCTTAACCAGATCTAGAACACCAGCAGCAGGGAAATCTGAGATATGCAGCTTTCAGCTTTCCAGCCTCTACAATTTGGAAAGACGCCACAGAATGTTGTTGGAATGGATGCGAAACTAGCCATTGCGCAGAACCCATCATGGTCAGGGTTTAGAAAATTTACTTCATCCCATACCTTACACTGTTTATTTATTCATATAATAAATATTTATTGAATGTCTGTTAGGTTTTAGATCCCATTTCTTGGTTTTATCAATAAACATGATAGAAAGGTAGAGAAAAATAAGCTTGGGTTCTTTTTCTCTTTATTTTTATTTTATTTTATTCTACTTTGAAAGTAAAATTTGAGGTAGTATGATTTGAAGCTGGGTGTGCCTTCTGTAAGAGATGTCTTTGTCTCTGCAGAAGGAGAACAGGTCAGGGAGTGGTTGAGGGGAACAGGAGGCAGACTGCTGGCTAGTTAGAATTGGCTGTGTTCTCAGCCTTGAAGAGGAAGGATGATAGGAATTATAAGGTTTTAGAATTTCCTAGCTATATGCACCAGGGTAAAGAGTAGAAAGGTCAGGATAGAATTTATTTGGCTAGAATGTCCCTTTCATTTGATCTCAGAAACTAAGCCTGACCATAACAGCTGAAGGGAATAGGTTGGAGCACTCAACTGAGAGGAAATGCAAACACAAAACCTTAGATAGCAGGGCACATACCTGCAGCAAAAGGATAGCAATTGTACAGAGGGACATGGACTTCAGCCTAAGCCCTTCAGAACTGCTGCGAGCAGAAGCGAGGAAAAGCATGGAGTGCAGGTAATTCCCTGATACAGTCAAATACAGAGTCTCAAAATGTAAAAGATGCCAATTATTTCATAAGATTCTTCCCTTAGGTGTTTCATTTTTCCAGTTATGGACTTGGACTGAAAATGCTGTGAGGAGAGCTAGATACCATATATGTCAAAATATGAGGAAAAATTATCAAAGAAATAGTCAAATTTGGTAGTATTTTAAAGTTTGAGTGAAATAAATTATTATTTAAAAATAACCACTCATCTATTAGTAACGAACTTGAATTTTCATGTTTTTGTCTGGATTCTTAAAGAACTCTGTTAAAAGGAATTGTCTGAAATTTCACCAAAGTGCTCAAGCTCATTTATACATCTACAATTACCTTTACAGCCCATTTATGAGGTGAGTGGAGGAAGTAAAAAACAATTTTTATAAATCTGAAAATTATGAAGCAATAGTTATTAATGGGATGAGTGTTACATAATGACAATTGCTACCTTTTACTGAGAAGTTGCCATAGAGTAGGGGTTGAAAGTCCTTTGCTTTCATTATAGCTAATCCTCACAAGTCTGCATGGTAGATATGTTTGTTCCCCACTGACAAATTGGGAAGCCGAGGCTGAGAGAGGCTAAAGCAATCACTAGCATTTGCAAAGCCAAGAAGTATTAGAACCAGCATTTGAACCTAGGCTAATGTGATTCCAAAATCTATAGTTTTTTTTCGGCACACCTCATGACTAATACCAAGACACTGTACAATCATCACCAGAACACCACAAAGCTGCCCCCTGTCCACTACTCTGCTATCATCAGAAGTGCTAATAGAATCAAGATCTTCATACTCAGGTAAGTACTTTAGTGGCTTGAGCATAAACAAATAAATACATAAAAATCTTTGGGACTCCCAAAGATTTCTTGTACAATACAATATCTTGTGTTTGCTTCTTGAAGCTTCCTCCCATGTTCTTTATCCTGTTTGTCTCAGTTATAAGGTTAGGTGCAAGGCTGTTCTTGCTTTGGAAAAATATTCTGTAGCCATTTGGTGCATGTGAGTGTTCTCTTAGGATACTGAACTTCCCTGTTTTCCATTAATGTTTATATAGTATCTTTTTGCATGTAGCTTCTGCTGATCAAGATTTAGGCATGGGCCATGAACTCCAACATTCTAGCAAGACACAGGACAGCTTGAATAATCTAATAAGCAAAAAACAAGAGGCTGCTTATAGCTAGAGGCTGCCTCCCTAGTCCTACAAGTTTGTATCCACAAGATCATGTTTAAGTTGTATAACTGAAACTCAGAAATCATTAACTTTGTTTCAAACTGATATTCAAGTGCTGCCAATGGCCAAGGGCAGGAATGGGAAAGAACAGCTCCTGGCAGTGCAGAGGAATCATTTAGGACTTATCCTGCCCTGTGGTCGTGTCCAATGTTCTGTTGGTGGGTCTTCCCAGACAGAAAATCTCCTTTGGAGGGGCCAGTGCTGTGGAGCAACAATTTGATCCACCCACTGAATTTTTCATTGGCCATTTCTACAGACGACAGCTTTGTGGACAAAAAAGTCTATCCTTTATATGTAAGATGCCAAAAATCATGATATTAAAGATAGTTTTAGTTAGGTCAGGAGCTCTTAATGTGTGACCTACATATGGGCTTTCAAAGGGTTCAACAGTCCACTGAATTTTAAAGGAAGATAGTAGTGTTATTTGTGCAGATGTGAACGTTTGTGTGGGTGGGAAAGTCCACAAGCAAGGTCTGAGATTTTTAAAAAAGGAGGAGGGAGTATAAAAAGGCAAGTATGTGCTAAATCAAAACAAACGTGAACTGTGCAAAAATAATAGTAATAACGTTTGCTTTGCAGAGATAAAACTAAAACATAACTAAAATATTAGATAACAATAATATTCAAGGTAGAAGGAGAATAATAGAAGTTAAAGCAATCTAAGGTCGTTTTTGTGTACAGGAGGAGCATAAAAGTATTGATTAACTTTAGAGCTTGTAAAATTAAATGTGCATTTAAAGACCAGGTACAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGATGGATCACTTGAGTCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAGATTCTGTCTCTATAAAAAAAAAAAAAAAAAAAAAAAAGTACGAAAAGTTAGCCAGGCATGGTAACACATGCCTGTAGTCTCAGCTGCTCGGGAGGCTGATATGAGTGGATCGCTTGAGCCCAGGAGGCAGAGTGACCTGAAATCGCACCACTGCATTCCACCCTGGGCAATAGAGCAAGATCCTGTCTCAAAAAAAAAAAATTTGTCTAAATATTTTAGCATAAACATTAAGACAGAGAAATAGAGTAATACTCAAACTATACATAATTAAGGAGGTAAAGCAAACAAACAGCTCAATAATACCAAAAGAACAAGAAAGGAAAAATTCCTGAAAATATTTTTAAAAGGTTAATAAGCACAAATATAAGGACATCTATGAATTTTTTAAAAATCTGTATTTATAAATAAAATGTAATAAATTCTCCAGGTGAACGATAAAACTTGGTTAGGCTGGACAAAAGAAACTACGTCTTACCATGTGCTCTTTCTAAAAAGCACATCTAAATCAGAAGAGCACAGAAAAGGTGAAAAAAACACACACAAGGGTAAGAGGTTGGATGTGTCTCCTAAAGTTCATGTGTTGGAAACTTAATCCCCAATGCAATAGTGTAGAGAGGTGAGGCCTTTAAGAGGTAGTTAGGACATAAGGGCTTTGCTCTAATTAATAGATTAATGCTATTATTCAGGAGTGGATCAGTTATCACGGGAGTGGGTTCCCGATAAAAGGATGAGTTTGCCCTGCTTCCTCTCCCTATCTGCAGCTCTTTTCTCCTTCCTCCTTTCACCATGTGATGACACAGCACAAAGGCCCTCACCAAATGCAGCCCCTTAAAGTTAGAACCATGTGTCAAATAAATTTCTGTTCATTATAAGTTATCCAGTCTCAAATATTCTGTTATAGCAGCACAAAACACACTAAAAAAATTAGTGTTGAGAAGTGAGGCTATTGCTGGAACAAACACTTGAAAATGTGCAAGTGGCTTTGGAACTGGGTGATAGGTAGAAGCTGGAAAATTCTGTACACTCAGGAAAGAAAAAGCTTATATTGCCACGGAACATTAAGAGCAATTCTAGTGAGGGCCCAGAAGGAGAAAAGAGCTGTAGCGAGAGCCTAAACCTTTGTAGGGATTACTTAAGTGGTTGTGATCAAAATGTTGGTAGAAATATGGAAACTGAAAGCTATTTTGATAAGTTCTCAGACGGAACTGAGGAACAAGGGAGTGAAATCTGGAATAAAGGCCATCTTTATTATACAGTTGCAAAAAACTTGGCAGAATTGTGTCCAGGTTCCAGGACTTTGTGGATGGCAGAACTTAAGAGGAATGAACTAAGATATCTGGCAGAATAAGTATCAAAGCAGCAAAGCATTCAAGGTGCTACATGGCTTCTTTTGGCCACTACAGTAACATAAGAGAAAAGAGAAATTATTTAACAGAGAAATTTATAATTAAAAGCAAAGCAGAACAGAAAGATTTGGAAAGCTTTCAGCTTGGTCATGTACAGAATAAAAAAGTATGTTAAGGGGCAAATACAAAGGGTGTGCCCAAGTGACCATTTGGTAAAGAGATTAATATGGATAGAATAAATCCAGGCTGTATTAATCAAGACAATGGAGAAAATTACCCCAAAGACATTTCAGTGATCAAGGCAAGCTAGGTCCTTGAGAGCAAGGTTTTCAGAGAAGTACACATGGGACCTCAGTATTTGCTGCCTGGGGCCACCTCAAGACTCTGCTTTCTGCATCCCAGTGCAGTGCTCCTTGGCTGTCCCAGCCATAGCTCAAGCATGCCAGGTGCATCTCATGCCACAGCTCCAAAGGGTGCAAACAGTAAGCTTTGGCGGCATCCACATGATGCTCCAGTGCACGTCAAGTCTGCAGACAGAGTGCACGAGCTGTGAGGCCATGGTGACCTCCACTGGATTTCAAAGGATGTATTGAACAGCCAGGGGCCCAGGCAGAAACTTGTCACAGGAACAGAGCCACCACAGTAAGCTGCTACTAGGGCAGTGCCCAGCAAGGCCACAGGAGAGAAGCCCCTGCAGAGAGTGCCTATAGGTAATGTCTAGCAGGGCCATGGGAGTGGGGCAGCCCCCGCAAGACCTCAGAACTGTTGAGCCACCTGCATGCAATTCCAGTCTGGGAAAGCTGTAGGCATGAGACCTGTGAGAGCTGCTGGGTGAACTGAGCCCAGCAAAGCCAAAGGAGCAGGGCTCCCTGAGGCACTGGGTATCTAGTCCCTGCCCCAGTGTGCCTAGGAGGTGAGACATGGAGTCAAAAGAGATTATACTGGAATCTTAACATTTATTACTGTTTTCACTCTTGGATTTTGGACTTACTTGCGACCAGCTACTTCTTTCTTTTTGCCTGTTTCATCCTTTTGGAATGGGAATGTCTATCTTTTGTCTATCTCACTGTATTTTGGAAGCATGTACTTGTTTTGGTTTCATGTGCTCATAGCTGGAGGGGAATTTGCCTCAGCATAGATCATGCCTTGAGTCTCACTCAATCTGATTTTGATGAGAATCTGGACTTTGGACTTTACAGTTGATGTTGGAACAACTTATGACTTTATTGGGGCTATTGGGATGGAATTAATATATTTCACATATGAGAAGAACATACATTTGAGGGGCAAAGGGTGAAATGCTATGATTTGAATGTGTTCCTGAAAGTTTATGGGCTGGGAATTTAGCCTCCAATGCAACAGTGTTGAGAGATGGGAGCTTTTAGGTTGTGAGGGTTCTGCCCTCATTAATGGATTAATGCCATTAACATGTAAGTAGGTTAGTTATTGCAGGAGTGAGTTCTTGATAAAAGAAGGAGTTTGACTCCATTTCTGTCTCTCTCTTGCATGCTCTTCTACCCTTCCACCTTCTGCCTTCTGCTGTGACATGATACAGTAAGAAGGCCCTCACTAGATGCTGAGAAGATGCCAATGCCACTGCCATGCCCTTGGACTTCCCAGCCTCCAGAATCATGAGCCAAATAAATTTCTGTTCATTGTAAGTTATCCACATTGAAAATGAATGGAGGAAGGATGAAGATGTGAGCTGAAGGGAGAGGAAGCTGACAACCCTGCACCAGGCTACCTACCATCAGGACTTTTTCTTGGTTCCCAGGAACTCCTGGGGAAAAGGTGAGGTGGACAGGTGAGGAGTAGCCTGATCTCACCATGTACCTCTGGGCAACAGAAAACTCCACAACACCTATGGACACTTAAGTTGGCAGGAAGAGCTGCTTAGAGAAGTAGGAGGAGCAGGACCCAAGACTGCATGGGTTTGGTGCAGGAATATCTCTAGTGGGGCACAGCCAGGGATACCCTTCACCCAAGGCCTGCCAGATTCCTCTAGGAGACTTTAGATATTGGGGGACTGCTGAACCTGGAGAGAGTAGGGTGGTCTTGGCTTTGAGACGGGACCAGTCCAATCTGAGCACACCCCTGTCCACTGGCCTCTCCTAGGGCCCCAGACCTGGCCATGCCCACTGGCGGGACAGCCTTAGATGCCCAACCAGGGTGCTTCACAGGGGCCCTCATCATAGCTTCTTTACCTGCAGACCACAACTGACCATCTAAGAGCTCCAGCAGATTGGTCCCAGCTGACATGCAGTGACTCACTCACACCCTCTCCCAATCTTTCCTATGCTGCTTTGCTGGCATGTACTCACCCATGGCCAACCCCCTACTGCTTTGCTGGCATGCCTGCACGTGGGTGAGCCTCACCTTTGTCCTATGCCAGGGAGTATGTGCATGATTACCCTGCTGTGCCACTTCTGCTGGTGTGAGTTCAACCTGTTGCCACCCCAAACACCTATTCTGGCACGCGGGCACCCAGCCACACTGCCAATGCCAGCATGAACACACAGACAGATGCCATCAATCTTGCCCCCATCCCCTGAAGCCATTGCCACCAGAGTGAATAAGTGCATAGATGCCAGTGGCTCTGCTCCCCCCATGATGACACCACCACCATTGTAAACACACACATGAACACCAGTAACCTTGCCCAACCCCGTGCTGTGACCACCATGAATGTGCACATGGAGGCCAGTAATCCCCATGCCCACCAGTACCCCCACTGCACTGCTGCTGCCAGTGTGAGTGCAAATACAGACACCAGCAAACCTGCCCCTGACTGTGCCCCAGTGCTGGCATGAGAATGTGCAGGAATGCCACAGCCCTGTTTCCACTGGTTTACCCCACCCCAGCCAATGTATGTGCACCCTGCCACACTGCCATGGTTGCTGGCATGCAAAAGTGAGCAAGGATCCTGATGCCACCACCCCAGTGAAGCACTCTGGCCAGTAGCACCCATCAGAGTGCTGTGGCCAGTGGACCAGGAATATCTCAGCCCATCCAGCACAGCTGGTTCCAAACCTCAAGGGACAAGAGAACAAAACCAGGGTCCTGGTACCAGGCCCTGTGTTAAAGAATGCAGACCAGGAGTGCTGAGCTGAGCTTTGGTCTCCTAAAATCTTTCAGACATCAACTCAGTTGACCAAGCCCACCTTCTACGACAATCAAACTTCCAAGGGTATCAAAGAAGACAAAAGCAAGGAACCTCATCCAAAGGACAGTAACTTCAAAGATTGAAGGAACATCTGCACACACAGGTAAGAAAGACCTAGGGCAAGCACTCTGGCAACTTGAAAAGCCAGAATGTCTTCTTACCTCCAAACACCGCAATAGTTCCCCAGCAATGGTTCTTAACCAGGCTAAAATGGCTGAAATGACAGAAATATAATTCAGAAGATGAATAGAAATAAAGATCATTGACATAAAGGAGAAAGCTGAAACCCAGTCTAAGGGATACAATGAAATGATATAGGAGATAAAAGATAAAATGGCTGTTTTAAGAAAGAATGAAACTGATCTGGTAGAGCTAAAACTCTCATTTCAAGAATTTTATAATATAATTGCAAGTACCAATAGCAGAATTGACCAAGTTGAGGAAAGAATCTCAGAGCTCAAACACTAGTTTTGCAAAGTAATTCAGTATGACAAAAAAAGAAAGAAAAGAAAGAAGAATAAACAAAACCTCTAAGCAATATGGGATTATGTAAAGAGACCAAATCTATGACTCATCAGCATCCCTGAAAGAGAGGGACAGAAACCAAGCAACGTGGAAAACATATTTGAGGATCTTGTCCACAAAAATTTCCCCAACCTCGCTAGTGAGACCAAGATTCAAGTTCAGAAAATGCAGAGAACTTCTGCAAGATACTATACAATACGAACATCCCCAAGAGACATAGTCATCAGACTCTCCAAGGTCAAAATAAAAGAAAAAAATATTAAAGCCATCTAGACAGAAGAGGCACATCACTTAAAAAGGGAATCCTATCAGCTAACAGCAAACTTTTCAGCAGAAATCCTACAAGCCAGAAGAAATCAAGGACCCATATTCAGCATTCTATAAGAAAAAAAAAATTTCAACCAAGAATTTTATATCCATCTAAACTAAGCTTTATAAGCAAAGGAGAAATAAGATTCTTTCCAGATAAACAAATGCTAAGGGAATTTGTTACCACCAGACCTGCCTTACAAAAGGGAATGCTAAATATGGAAAGTAAAGACCATTACCAGCCACCACATAAACACACTTAAGTATATAGACCATTGCCACTGTAAAGCAATCACACAATTAAGCCTGCTAAATAACCAGCTAACAACATGGTGACAGGATCAAATTTGCACATATCAACATTAACCTTGAAGACAAATGGGCTAAATGCTGCAGTTAAAAGGCACAGAGTGGCAAGTTGGATAAAGAGGCAAGACTCAACTGCACGCTGTCTTCAAGAGAATCATCTCTCATACAATGACACCCATATGCTCAAAGTAAAGGGATAGAAAAATCCTACCAAAGAAATAGAAAACAGAAAAAAGCAGGAGTTGCTATTCTAATTTCAAACAAAACAGACTTTAAACCAACAGCAATAAAAAAAAGAACAGCGTTTCATAATGGTAAAGGGCTCAATTCAACAAGAAGACCTAACTATCCTTAATATATATGCACCCAAAACAGAAGCACCCAGATTCATAAATCAAATTTTCAAGGACTTACACAGAGACTTAGATGGCCACACAATAACAGTGGGAGACTTAACATCCTACTGAATGTATTAGAAAGATCGTCAAAGTAGAAAACTGACAAAGATATTCAGGACCTGACCTCAACACTTGACCAAATGAGCCTAAAGGATATCTACAGCACTCTCCACCTCAAAACAACAGAATATACATTCTTCTCATCTGCACATGGCACACACTCTAAAATTAGCCACACAGTTGGTTATAATACAATTGTCAGCATGTTCACAAAGTCCATAATTATACCAACTACACTCCTGGACCACAGCCCCCCCCAGAAATCGAAATCAATACTAAGAAGATTGCTCAAAACCATAAAGTGATATGAAAATTAAACGACCAGCTTCTGAATGACATTTGGGTAAATGATGACATTAAGGCAAAAGTCAAGAAGTTTTTGAAACAAATTAGAACAAAGCTAAAACATACCAGATTCTCTCAGACACAGCTAAAGCAATGTTAAGAGGAAAGTTTATAGGACTAAAAGCCTACATCAAAAATTTAGAAAAATATTAAATTAACAACCTAACATTACACCTAGAGTAACTAAAGAAAAATAAACAAGAGCAAACCAACCCCAAAGCCAGCAGAAGACAAGAAATAACCCAAATCAGAGCTGAACTGAATGAAGTTGAGATAAAAAAAAAAAAAAAACATACAAAACATCAACAAATTCAGGAGCTTGTTCTTTGAAAGCATAGGTAACAATGATAAACCACTGTCAAGACTAATAAAGAAAAAAAGAGGGAATGTCCAAATAAACACAATCAGAAATGACAAATGGGACATGACCACTAACCCCACAGAAATACAAAAAAAAAAAAAAAAACCCATAGACTACTATGAACACCTCTGTGCACACAAACTAGAAATCCTAAAAGAAATGGATAAATTCCTGGAAACATACAACCTCTCAATATTAAATCAGGAAAAAATGGAAACTAAACAGACCAACAATGAGTTTTAAAATTTAATTAGATATTAAAAAAACCCCTACCAACCAGAAAAAGCCCAGGATCAGATGTATTCATAGCCAAATTCTACCCCATGTACAAAGAAGAGCTGGTACCATTCCTACAGAAGCTATTCCAAAAAATTGAGGAGGGACTGGTCCTGAGCTCATTCTATGAGGTCAGCATCATCCTGATACCCAAACCTGGCAGAAATACAAAAAATAAAAATAAAACTTCAGGCCAATATTTCTGATGAAGATAATGGCAAAAATCCACAATAAAATACTAGCATTCTGAATCCAGCAGCTAATGTACTATGATCAACAAGTAGGCTTTATCCCTGGGATGCAAGTTTGGTTCAACATAAATAAATTGATAAATGTGATTCATCATCTAAACAGAACTAAAGCAAAACACACTGGATCATCTCAATAGATGCATAAAAGGCTTTTGATAATATTCAAAATTCCTTCATGTTAAAAATCCCTCAACAAAGTAGCCATCCTAGGAACACACCTCAAAATAATAAGATCCATCTATGACATACCTACAGACAACATGATGATACTGAATAAACAAAAGCTGGAAGCATTTCCCTTGAGAACCTGAACAAGACAAGATGGCTTTCTCACCACTCCTATTCAATATAGTACTACAAGTCCTGGCAATCAGGCAAGAGAAGAAATTTAAAAAGGCATCCAAATAGAAAGAGAGGAAGTCAAAATATCCCCGTTTGCAGACAGTATGAGTCGCATAGAAAACCCTGTGGTCTCTGCCCAAAAGTTCCTTGACCTGATAAACAACTTCAGGCAAGAGAAGAAATAAAAAAGGCATCCAAATAGGACGAGAGGAAGTGAAACTATTTCTGTTTGCAGAAAATATGATTTTATACCTAAAAAACCCCATGGTCTCTGCCAAAAAGCTCCGTAATCTGATAAACAACTTCAGCAAAGTTTCAGGATACAAAATCAATGCACAAAAATCAGTAGCATTTCAATACACCAACAATATCCAAGCTGAGAGCCAAATCAAGAACACAATCCCATTCACAATAGCCACAAATAAAATAAAATACCTAGGAATACAGCTAAGTAGGAGGCAAAAGGATCTGTATAACAAGAATTGCAAATCACTTCTCAAAGAAATCAGAGAAGACACCAACAAATGGAAAAACATTCCATGCTCATAAGGATAGGAAGAATCAATATTGTTAAAATGGCCATACTGAACAAAGAAATTCATAGCTTTGATGCTCTTCCTGTCAAACTACCAATGACACTCTTCACAGAAATAGAAAAAACTCTTTTACTTTGGGAGGCTGAGGCGGGCAGATCACGAAATCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCTTGTCTCTACTAAAAAAAATAAATCAGCCGGGCGTGATGGTGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGCAGAATGGCGTGAATCCATGAGGCGGAGCTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAAACAAAAAAGAAAAGAAAAAACTCTTTTAAAATTCATATGGAACCAAAAAAGAGCCTGAATATCAAAGGCAATCCTAACCAAAAAGAACAAAGCAGGAGGCATCACATTACCTGACTTCAATCTGTACCACAGGAGTACAGAAGGTATTACTGTACCACAGGAGTACAGTAATAGAAATAGCATGGTACTGGTACAAAAGCAAATACACAGACCAATGAAATAGAATACAGAGTCCACAAATAATGCCACACCCCTCATCTTCACAGATCCACAAATAATGTCACAACTATCTGATGTTCGACAAAGTTGACAAAACAAGTAATGGAGAAAAGACTCTGTATTAGTTCATTTTCACACTGCTATAAAGACATACCCAAGACTGCATAATTTATTTAAAAAGTAGGTTTAACTGACTCACAGTTCCTCATCGCTGGGGAGGTATCAGGAAATTTACAATCATGGTGGAAAGGGAAGAGGCACATCTTACATGGCAGCAGGCAAGAGAGCGAGTGTGTGAAGGAGGAACTGTCAGACACTTATAAAACCATCAGATCTCATGAGAACTCACTTGCTATCATGAGAACAGCATGGGGGACACCACCCCCATAATCTAATCACTTCCCACCAGGTCTCTCCCTTGACATGTGGGGATTATGAGGATTACAATTCAAAATGAGATTTGGGTGGGGACACAAAGCCTAACCATATTAGACTATTCAATAGATGGTGCTGGGATAACTGGCTAACCATATGCAGAGACTAAAACTGGACCTCTTTGTTACACCATATATAAAAATCAACTCAAGATGGATTAAAGACTTAAATGTAAAACTCAAAACTATATAAACCCTGGAAGATAATCCAGGAGATACCATTCTGGATAGAGGTCCTGGCAAAGATTTCATGACAAAGATGACAAAACAAATTGCAACAAAACCAAAAATTGACAAATAGGACCTAATTAAACTAAAAAGCTTCTGCAAGCAAAGGAAACTATTAACAGAGTAAACAGACAACCTACAGAATGGAAGAAAATATTTGCAAACCATATATTCTACAAAGGTCTAATATCCAGCATCTATAAGGAACTTAAACAAATGAAGAAGCAAAAACAAAAAATCCCACTGAAAAGTGGGCAAAGGAGATATACCTAATGCTAGATGACGAGTTAGTGGGTGCAGTGCACCAGCATGGCACACGTATACATATGTAACTAACCTGCACATTGTGCACATGTACCCTAAAACTTAAATAATAAAAAAAAAGTGGGCAAAGGACATGAACAAACATTTTCAAAAGAAGATATATACATGGCCAATAAGCATAAAAAAATGTTCAACATCATTTATCACAGAAATGGAAATCAAAACCAAAATGAGATACAATCTCACACCAGCCAGAATGGTTATTATTAAAAAGTCAAAAAAAAAAAAACCCAGATGCTGGCAAGATTGTGTAGAAAAAGGCATGCTTATACACTGATAGTGGGAATATAAACTAGTTCAGCCACTGTGGAAAGTAGGGTAGCAGTTTTCCAGAGAGCTTAAAACAGAATTACTCTTCCACCCGGAAATCCCATTATTGGGTATATACCCAAAGGAATATAAATCATTCTGTTAATACCATAAGGACACACATATGTATATGTTCATCATAGCACTACTCATAAGAGCAAAGACATGGAATCAACCTAAATGCCCGTCAATGGTAGACTGGATACAGAAAATGTGGTACATATACACCATGGAATACTACACAGGCAGAGAAAAAGAATGAGATCATGTCCTTTGCGGCTGCATGGATGGATCTGGAGGCCATTATTCTATGTGAACTAACAGAGGAAGAGACAATAAAGTACTTCATGTTCTGAGTTATAAGTGGGAGTTAAACATTGAGCACACATGGACACAAACAGGGGAACAACAGACACCTGGGCCTGCTTGAGGATGTATGGTGGGAAGAGAGAGGAGGTAAAGAAACTAGTTATCAGGTACTATGCTTATTAAATGGGTGATGAAATAATGTATTTAGCAAACCCCTGTGTCACACAATTTACCTATATAACATACCTGCACATATACCACTGAATCTAAAATAATTGTTTAAAAAATTATACATTCTGTGCTATCCTGTTATAGCAGCACAAAATAAATGAAGACAACTGGAAACCCTAAGCTAAGGAAAGCTTCTCTTGCTGGTCATAGACTTCAAGGTCAAAATAGTTACCAGATAAAAAGGGGGTGAGCACATATTGATGAAAATTACAATTTTCCAGGAAGATAAAGTAATTATAATGTTTAAGCTTATATGGGCACATATTAACATTTATTCAGCATATATAAAGCAAAAATGTACAGGCTACAATGAAATTGTAACAAATCTACCATTATAGTAAGAAATTTAAACAGACCTATCTCAGGTATTGACATGAAAAGCAGATCAAAACTAGCAATGTTATAGAAATTGTAAACACAATGAACATGAATGTCCTAATAAACATATTAAGAACATTTATCCAATTATTGGATAATTCTGGATAATTCTTTTTGACATGCAAGGAACATTTTCACAAATTTATCACATACTAGGCCAAAAAGTCTTTAAATATTTCCAAAAGTACCACAGACTACCTTCTCTCACAAGAAGGAAAATAATGTAGCTATTAGTAATAAAAGGAAAATTAAGACAATTTCATACATTTGACAGTTTAAAAGCAAACTTCTAAATACCTCCTAGGTCAAAGAATACTTTATAATAGAAAGTAAAAAAATACTTAGAACTAAATGATAATGAGAATATAAGATAAGTTACGTGGGCTGCAGTTAGAGTACCAGAAAACTTCAGTGCCCTACAACTACTAAAGAAGTCAAATCAATATTTTAAAAGCCTCCTCATAAATAGAACACCAAATACAAATAGTTCTATAAGAAAATATAACAAATGTTATCATCAAATTTTAATTGTATATAAACTTTTTCATAGGTATAACAAAGAGGAAACTTTCCTTAACTCTTTTAAAGCAGTCATTTTTAGCCTTGATAGCTAATGCAGATATGAGTATAAAAAAGGGGGAACTTTCCAAACAATTAGATGCAAAAATCTTAAACTATTTAGAAACCTGATTACAACTTTGTATTTTAAAAAAGACATTATGACCAAGGCACATCAATTCCAGGAATAGAATATATCCTTATGATCTTTATATCTTCCAGCTTCCATCATTTGTGTAGAAAATTCAGTTATTAGTCTTTTATTGCTATTATGAAAGCAATGTTGTTTTTTTTTGGGTGCTTTAAGTAATTGGTCCTTGTCCTTGGCTTTCAGGAGTTCACTATGAGCCAAAATGGGATTTATTTTGCATGTATCTTTTCTAGTTTCTTCAGAATTTCTTGATTTTGTGGGTTAGTTTTAGAAAGTTTTTGGTTATTATCTCTTCAAATATTCCTTCTTCCCCTATTCCTTGTCTCCATTCTTTCTGATACTTCAATTACATGCATGTTACACATTTTTAAAACTATGTCATATATATTTTATGCTCTTTTTTGCATTTATCTTTTCTTTTTTTGTGTGCTTCAGTTAGCATATTTACTCCTGGGAGGGGAATACCTGAAGGCTTGTGCCTTATTTCTCCTGAACTTCACCCCATGTGCCTTTTCTCTTTGTTTATTGTTATCTGTGTCTTTTTGTTATAATAAACTGTGACCATCAATATAACCACTTCTAAGTCCTGAGAGTCCTTCTAGTGGGTCATCAAGCTTGAGGAGGTTCTCAGAGACTCCCAACATGACAACACTTACAAAAGCAACAAAACTAAAAAGTATCCTAGAATATATCTAAAAAAAGATGTGTGATACCTCTAGATAAAAAATCATGAACTTTTCATAAAAACATTAAACAATAATAAAGATATTTCTTTATCTTTATTTTGCAGATAAAATAACACAGATATTTCACATTCATGGATAAGAAAACTCAGTCCTAACAATGTCAAACTGAAAAGTTTTTTATGGAAATTTTTATCAAAATCCTAGCAGAATTTTAAATAAACTTCATGATTCTGAGTTTCATATGGAAAAATAAAGGGCTGAGAATAGAATATCCGAAAGGATTAATATGTTGGGGGAATTTGGCACACCAAATATCAAGAGTTATTATAATCCAATAGCAATTAAGGTGGGAAGATACTGATGCGAGGAAGGATAAATTGTTTAATGGAGCAAGAATTGAGGACTCACATGTATATGGAAGATAATTCTAATTTGATTAATAATTTAAATGTAAAAGTCAAAACTTCAAAACTTTTAAAAGAAAATATTAGAATGTTTGTAGAGAAGGGTTTCTAAATAAACATCTAAAACATAAGAAAATGTTGATAAGTCTACTTCATGAAAATGAAAAACTTCTGTTCATCACAGTATAGCAAGAGAGTAACAATGTGAACCATAATGCCACACCTATGATTAATAAAGAACCGGTTTCCAGAATGCATAAACAACCACTAGAACTATGTAAAATCGGTTAGAAGATAGCCATCCCAATAGATGAAATGGGCAACAAAAGAATAGACATTTCACAATGAACATATGAATTTATGACCAATCTCATTATTAACCAGAGAAATGCATAAGACAGTGAGATACCATTTCATAACAATGAAAAAATTAAATTACCTAAAATAAGATGTTCTAGAGAAGATGTAGATCAATAGGAACACATTTTTGGTGGAAGAGTAAATTGGAAAGCCACTCTGGAGAACAGTTTCATGATAATGTGTCAAGTTGAACATTTGAATACTCTGAGACTCAACAATTCCACGATTAGGTATATAGCCTATAGAATCCTTGTACCCATGTACCAGGAGTCATATATGAGTCTTCCTTGCCAGACTGTGCATAATAATGAAAATTTGGATCAATGTAAATATTCATTGATTGGAAAATAGATATATAACTAGAGTTATAACTTGCAGTATCACATGATGGAATATCACAGAGCTATATCCACCAACATGGATGATTCTTAGAAAGCTAATTTTGCGTGGAAAAAGGTTACATCCATGGTGACTACAAACAAATATAATAAAGCTCAAAACAAGCGAAATGAAACCATCTATTGTTTAGGCATAAATACACAAATGGATAAGCATTTCTAAAGGAAAGAATTGATAAACACAAAATATGCAATGATTGTTACCCCAGGTAAAGGGAGAAAAACGCATCTGGACACAAATACACAAGATCACCATTAAGGTTCTTTTCCTTTTGCTGGTTGGAAAATACGTAAGTGTTTGTTTTAACGTTATGTTCTAAATTGTACATGTGTTTTTATATATACTCTTTTTTTAGTAGGATATATTTAAAATAAATGAAGCAAAGTATTTTCATAACAACAATTAAAACGATTAAATGTAGCTAGTTTTTACAATAATGAACAAATCTCCAGAACAAATAACTACATTATGAATTAGGGAAATGTCTATGTTTCTATTGTCTCATTTATTTTGTACCATTATGATATTCTGACTTATTTTTTTAAGTTTTATTTTTAATTTCTGTTTCTCCAATTCACCAATCCTTTCATGTTCTGACACTTATAATTATGGCCTAAGATGTATTTCGTTTACAAACTATTATTCTTCCAGATAGAAATATATGTGCAAATTGCCTTCCAAATTACTATTCAGACATTTTTCATAATCTGTTCACTAACTTTGAAGCTTGCATTATTTAAATGCCTTAAGCCAAAGACTTTTTTTTGGCAAAGTCTTTTATAACAAAAGATAGCTTTATCAAGCAAAACAATTACAAGGATCCAAGGCTCAAAGACATAACCAGATAAGTCTGTTGATGTCATTGCCTGGCGCCCCCCGCAAGTGGCAACGGACTTCACAAATGAGATAGTGGGTGGTTCCTAAGCACTATTTCCAAACTCCCTCCCACATGACAGGATTTAGTTATTTGCCGAGGAAGATATGCAGTAAAATATTAAAGTCACATGGGGCCAGGTGCGGTGGCTCATTCCTGTAATCCCAGCTCTTTGGGAGGCCAAGGTAGGCAGATCACTGAAGGTTAGAAATTTGAGACGAGCCTGGCTAACATGGTGAAAACCCATTTCTACTAAAAATACAAAATTAACCACGTGTGGTGGCAGGCTACTCGGGAAGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAGAAAAAAAAGTCACATGGATACATTCATTTTTTTTAGAACACATACACATATCTAAGCTGACTCAGTGACTTCCCTCTTTGCTACATAAGACAGGAAAAAATTTTAGGTAATACTCACAATAAGATCTCTTTGTGATTTGATGTTTCGCAAAAGATTCAGGGAAGGAAGCTATTATAAGAAGTTTTGTCTGAAGAGTGGTCACTGGGAGGCTCTGCAATTCACCAAGAACACCTGCTTCAGTGACCCTGATTCAATTTACTCACTGGCTCTCTAACTAGAAACAGATGCTGAGATTGCAGGAGTCACGCAGCAGATGCACTCACTACTACTCTTAAGCTTTCTGAAAGAACAAGAGTTCAGACACTTGTCCTTCTTTGAATTACTGTCTTGTTTGGCATAATAATTATTTAGCAAAATCATCAGGGTAGTATAATATCCTAATATTTGGCTATTCGGCAAGATACATGGCAGTGTGCCAGGGATATAAAAACCCACAGAATAAACATAGCACATTATCCAGGAGTTTTAACTTCATGCCAAAATTTGGAGGTAAATATTTTCATAATTTAATCTGAAAGACATTTAAATTATTTTTGCAGTAAAACAAATACATTGTGGAAGGGTAGTCACAATTTGCATGCTTTTTAAAAGTGAACATTTCAGGTTTTAAACAAATTTCACATTTTTATCCAATCCCCTTGGTGATGTGTTTCTAGAACCCTTAAGACATCTTTTATGGTTACTTCTTGGGCTTTGATGGAAGAAGTTCAAGACTTGCTTCCCTAAATTATTCCAGGATTAGAAGAGACTAGAATTTTCTCAGGGATGTATCTGTCTCAGAACATAAAGGGAAGGGCCAGAGCACCCCAGAGGGTTGACCCTAATGGAGATCAACTTGCTACTTACTGTAAAATAAGTGTTAGGTTCTTTCTTTTTCTTCACTAGTAATCATTTCACTTCCAAAAGGCTGTGCACCTTTGCTGATGAAAAATTAGCAGGAGTTCAGAGAGAAGCCTTTTACTTGAGTGGGCATGGAGAAAAGGAAGTCTTTTTTATTCATTGAGGTCATGACATTAACAGCTCTTCTTAGCAACTGCATCATTCCACAGAGAAGTGGGCCTTTGAGAAGCGGGCAAGGCAATCAGTGAAATATTCTGTGTGGAGAGAGGGGTGGTTGGTTTCAATAGAGTAGAGATAAGGAAAGAGTTTATTTGGGAGAACCAAAGGTTATCACATGGCAGAGAATAGGGAGATATGGTCAGTAATTGGTCAGTGTCAGGAACAGGTGACAAAGACGAATTGCAACCAACTATAGACCAATGGATAGAGAAGACTGGCATACTGAAAGAGGAGAACTAGCAAATTACTCAGGGCAAATAAAAATGGTTTGGGGCCAATGTTGAAGTAGTGTTGCCTGTGTCTCAGTTTCCTCATCTATAAAAATGAATAATACCACCTTTCAGGACCAGGGCCATGTGGGTTTAAAGAGTTAATTCAAGTTATCTGAGACAGTGTCTGGTATCAAGGAGACACTCCATTAATGGCAGTGACTCTTATCATTATTGCTATTTACTTGTATCAAACCAATGTAGACCTCTATGTGGCAAAATAAACCCAAGTATTTACTGATTCATGCAGTCAAAAGTGTGGAAATTCAACATTCAATAAGACACTACCTGTGAGCCACTAGCGTGCTCTGTATAAAATCCTCTGCGGTAGGGACCAGTTTACCAAGTCTTGCACGGCATAGTCTGCAGCCACAAACACAAAAACCAGAAGAAGGTTTCTTCTCCTTTCTTCTTCTTACCTGCTCAGTCTGTAAGAGACTTCCAGCAATCACCCCTACTCACCCCTAGGGCATTATATATATTATTCCTCATAATTTCCAAATACCTAACAATGATTTTATCTACAACAAAGTCTCCTATTTACTAAGTTACCTACCCATTAACTATACAGCCTTGTAATCTCCTTGCCGAGCTGAAGGGCTGCTGCATTTCTAATGGCTCACACCTGCTTTGCATTTGTTTCCAGTTTCAGATCATGTCACTCTTTCGATATTTTCCTCCAGTCACAAGGATGGCTTTCTAAGCCCAGATTTGTGAGCAAAATGTTCTTAGGCCAGTACTTCTTGAACTATAATGTGCATAATAATTACATGGAGATCTAGTTAAAATGCAAATTGTGATGCAATAGATCTAGAGTAGGGCCTGCAAGTCTGCAGTTCTAACAAGCTCTGTGGGGATGTTGATACTGCTGGTCCTCAGATGACAGTTTGAAGGGCGAGGCCCTATACTATAAGGAAGCAGGGTGCACTGTGACTGCTTACTCACTTTTTGCATTTTACAACATCAGGGAGCAGCTCAGCAAAGCGCCTCCATTGGTCCCCCAAAAGAGTCCTAGCTAGTTGTAATGTTTAATGAGTATTTAAAGACCCCAAAGTCCCCGCAAACTCATGCTGCAGTGGTTTCTGGATGCACACTGGGTCGGTTAAATCAGTGTGTATGAGGATTTTGCTAATTGCTGAGGTCAGCTCTCATACCTGTTTACAGGGAAAATGGCATGTATATTTTATAAAAGCACATTGAATTATGTATCTGCAATTACAAAAGATTAAAGAGAAAGTCAACTCCAAAGAAAATTGTTTGTTAGCTGCTAAGAATTTAGTTGACTCCTATCCTCATTCTTCATCTCTTTTATCTTTCTGGAAAACTTGCCCAGCCAACCACAAAATGACCCTGTGATAATCAGCTCTCAACAGGGCAGGGAGACAAGCATTCCCCTCTGTACAAAATACCTTTGTTGCAAAGGTATTTATTTGAAATCTGTCTTTGCTGTTTTCACGTCAACCCTGAAGTTATCTTCCAGAAGAGTGTATGTACATTTTAATCAGCATTATCTCAAGAGGAAATGCTGTACTCTAATTAATGGTTCAAGCAATTGTGCTAAGCATAACAATTGCTTGACAGTCATAGCTTGTGTTAACTGTATAATTGCTGTTTGTGCCTTGCTTATTCAAAAGTCATATTATTATTATCTCCAGATAGTCAGCATTTACTTCCAGCATTCAGAGCATAAGCAAAGTGGTGCCATACAAGTCAGCACTATTTTTTAATATGCTGCATTGCAGCATCTCAACTACCAGTGTAGGGAGGGCGTGGTCATGCCTGCTTGGTGTTTGCTCTGTGTAACAGAGATTAAGATGATGACAGGTTTCATTTTGTGATGCTTTAGAGAATTGTAACATATTAAAGGAAAAACATGGAGTGGCCAATATATTCTGTAAGACACAAGATTTGCCCTATCTCCATTCTTATTCTCTTTATATTTCAGCCTCACCTGAGATAAACTACCTATAGCGTCTACTGAATATACATGCAGAAAGAATATTGAAACATAAAACATCAGAAGGAAATATCACTTTCCAGTGTTGTACTCAGCCCTATTGGAACTTGAGGCAAAAGGTTATTCAGTAACACTGACACTGTCTTTAAAATTGTGACTCCTTCCTCCCTTCCTTCCTTCCGCCCTCCCTCCCTTCCTCCCTTCCTTCCTCCCTCCCTCCTTCCCTCCTTCCCTCCCTCTCTCTCTTTCTTTCCTTCTTTCTTTTTTCTTTCTCTTTCTTTCTTTTTCTTTCTCTTTCTTTCTTCTTTCTTCCTTTTTCTTTCTCTTTCTTTCTTCTTTCTTTCTCTTTCCCTTTCTTTCTTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTGACACACTTTCACTCTGTTGCCCAGGCTGGAGTGCAGTGACCTGATTTCAGCTCACTGCAAGCTCCGCCTCTCAGGTTCAAGCCATTCTACTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCATGCCACCACACCCAGCTAATTTTTGTATATTTATTAAATATGGGGGTTTTGCCGTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTAAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCAGGAGCAAGCACGCCTAGCCTGTGATATTCTTCTATGGATTTTGGTTTTTTAAAAATCACATTAAAATATTGTCTTGATCATTGAGTTTTTCCCCCTTAAATTTTGTGCTCAAGATGAGTGCCTCACCTGATTCTTGGCCTTGTCATGAGAGAGGTGATAATCTATTTAACAGCCAAGAAAAGAAGACTTCTGAAGAAAAGGCTGAGTTAATGTCACTATGTATTGGGAAAAAAGAGAAAAACCGACAGGTTGGGTTTCCATGAGTTGGAAATCAAAGCTAATAGGATGTGGATGTTTGTGCTGATTCTTGCAGCTGCAGTGAGCAGAGGAAATGTTCTGAGCACTTTCTCAAAAGGTTCTTCAGTATTTTAACTTAAAATCATCTTACAAAAGAAAAGCCTTTGTTGTGTTTATTTGGGGTCTATTTCATTTAATAGGTCTTCTGTATAGTGATTTGTAACTTTTATCAAAGTTGAACTTTTAATGCACATGTTACTTTCAGACCAAAGTCTTTATCCTGGAAGATGTAGCCTCTTTTTTCATTTTTATCTTGAAATGCCCCTTGGCACAAGCTTAGTTAGGAAGTTGAGTTCAGTGGAGAAAGGACGTATAGTTGATATTATACTGGTAAGCCAAGCTCTAAGTTCACCAAGTCTGTTTTTTTCATGTTAAATTGCAGGAGTAGTATTTGCCACATATACCTTATTGGATTGTTTTCAAAGTAATGCACAGGAAGTTGCTTTGTAAAAAATGACCACCATATTCATTATTATGAGTTGACTATGAATTTACTAAAGAGTACCTAGAAAGCGCTCATCTAGATTAGTCTATATGTAGTAAATTGTAATTAAGGAATACATACAGTTGCAATAAATGTGTATGATTTTATGTACCATCTCTCACTATCTTCTAGTATAGCTAATTCATATCTGGCATCAGTTTAGTGACCAAGACACCCTCTCCCTTTGCTTGGATTATTGCAATGCCTTCCTGCCTGGTCTGCCTGGATCCACCCTTGATATAAACAGCCCCAGCCACTCACCCCCAACCCCACTCCTGCTTACATATATTCTCAACCTAGCCACCAAATTATTTTTTTAATATAAGTCAAGTCATATTACTCTTCTGCCCAACCACCCCCAATGGTTTTCCTTCTCACTAACCATAAAAACCAAACGTCTTATAATGGGCTCTAAGACCCTTCAGAATTTTGCCTTCATCACGTCTCCATATTTATCTTCCATCATTGACTTGTTTCCTACATTCCTGCCACATCGGACTCTTCATTATTTCTTGTCCTGGCCTCCCCTTGAGCAAATTAAATTCTCAAAGCTTCAGCTTCCTTATCTGTAAAATAGGCATAAAAATAGTAATAACTATAGAGGACTTTTTTTTTCAGGATTAAATTAGTTAAAATGCTTAGAACAATATTTATACCTAGTGTTAAAATGTCAATATTATATTATCATAAGTTTTATTACCCTCATCTGATTTTTTGTAAAGTCTCTAATGATTTGACTCCTGAATTGACAATAATCTCTGAAAACTGTCAGAGGCGTTTGAACCAGAGCAACTCCATCTTGAATAGAAGCTGGTTAAATATGGTTGAAACCTACTGGGTTGCATTCCCAGATGGTTAAGGCATTCTAAGTCACAGGATGAGATAGGAGGTCGGCACAAGATAAAGGTCATAAAGACCTTGCTGATAAAACAGATTGCAGTAAAGGAGATGGCTAAAACCCACCAAAACCAAGATGGCAATGAAAGTGTCCTCTGGTCGTCCTCACTGCTACACTCCCACCAGCGTCATGACAGTTTACAAATGCCATGGCAAGTTACCCTATATGGCCTAAAAAGGGAGGGCATCAATAATCCATCCCTTGTTTAGCATATCATCAAGAAATAACCATAAAAATGGGCAACCAGCAGCCGTCGTGGATGCAGTCTATGGAGTAGCCATTCTTTTATTTCTTTACTTTCTTAAGAAACTTGCTTTCACTTTACTCTATGGACTCGCCCTGAACTCTTTCTTGTGAGAGATCCAAGAACCTTCTCTTGGGGTCTGGATCCTGGATTGGGACCCCTTTCCTGTAGCTGAACGGTCACATTACTTTGTTGCTTATTCATATGTTTAAGCATCTTTAAGATCCTCACTGCAGCGAAATAAAGCTCAGAACTTCAAACACTATAAGTATTCCCAGGCCCTTGCTGCTATGTCTTAGATATTTACAGCTTCCCCTGAATTCTTTTTTCTTTATCCTTTGTTTTGGGGAAGGTTGTTTTATGTTTTTCTATTCTCACTTATATTATTTCTCTCCATTTCAGTTTAATATTATTTTTCATTTTTCCTTAATATTCATAATTCAGTTTTCCCCCACACTTGGCACCCTACCCTCTACCCTCTGTCTTCAATTCTTTCCACAATTTTCGCTCCTTCCCTTTTTGCTGTCTCAAGTGAGAACATAGGCACATTTATTTAACCCCACTGGAAATCCTGTGTTTTTGTAGGAAAAGACTTGCTTTCTTGGCAGTGCTAAAAATAAAGTAATTACTGAAGGAATGCATGATGGGGCCAGTTAGTAACCTGATAAATGGAACTTGGATACAAAGCAGAGATGAATAAAAAGACTCACCTGGTCCAGGATACTGGCTTAAAATGAGCCCTGCAGCAAGGCTGACTTGATTATGAGCTCCAAACCAGGAGGCTTTTCTTTCCTCAGTCTAGGAGGCAGGAGTAAGCCTGACAGTGGCAAGAAAGTATCCTCAAGAGTGGGCTAGGGAGGGATGGGGTAAGTTGTGCTGGTAAGGACACCGTGGGAGCAGTGAGCCAGTACATTCCATTCTTACATTTTTTGGCTTTAAAAAACGGAAGGACAGAGCTATATTACTCCATTTCTATTTTGTGAAAAAGTGTAAGCTTAATAATTTTAAAACTCAAGGCTACGTTTGATTTTTCCAAAGCACAATTAAATAAAAAATAGCTCCCTCAGTGGCTCATACCTATAAGAAGCCAAATGGTTTGGATAAAAATACTATTCCCAAGTCACCAGCATCAGCCTGTATAAATAAAATTATTAGGACAGGCAAAGCAATTCAGAGGAAAGAGCATCGCTTGGGGGTAAAATGTTTAAAGAATACTGTGAATTTCACTGTCACAAATTCAAATAAAGTGAGAGTGGAATTCACAGTATTTAAGGAATCAATCCTTGCTGCTTCTGTTTATGAAGCCGAGCTTCAGTTTTCTTGCTCTGACAATGGACACAGTGATTACCTCAAGGGTTGCTGTAGGAGTTAGATGAGATATCTATAATGTAGGAAAGGTGTTTACTACAATGTAACTCATGGATAGGGGCCTATATTGGTTTTCCATTGCTGTGTAACAAATTTCCATAAACTTAGTGGCTTAAAACAACAGACATTTATTATCTTTCATTTCTGTCAGAGGTCCAGGCAACTGAGTGGTTGATATCTCTGTTCAGGGTCTCACGAGGCTGAAATCAAGGTGTCAGTTAGCTGCATTCCCCTCTAGAGACTTGACTAGGGAAGGATTCTTTTCCAAATTCCTTCAAGTTGTTGGTAGAAGTGTTTCTTGCTAGCTTCAATTAGGGATGGATCTCAGCAACTAGTGACCACTCTCAAGTCTTTATTATATGGCCCCTTTTATACTCAAAACCAGCAACAGAGAATTCCCCCTCACATCAAATCCCTCTCACACTTTCAATCTCTATGACTCAGAAACGGGCTCACCTGGCTAGGTCAGACCCACCAGAATATTCTCCATTTTGGCTAGCTCACAGTCGCCTGATGAGCAATGTAATCATAGCAGTGGTATCATACACACAGGTCTGCCTGCACTCAAAGGAGAGTGATTATCAAGGAATGCACACCAGGGGCGGCAGGAATCTGGCAGCTATCTTAGAATTCTGCCTGCCACCATTTCCATTAAGTGATTGTTGTTGTTTGTTACTGAGGCATAGATGAAGTAGCACTTATGCAGGAAAAAAACCACTAGTCAATCAGAATTTCAAGTTGTATGATGAGGTATTCCATAGAAATTAAACATGCGTATAACAGATTCTCATAGGTCAGGACACATGAAAAATTTAAGGAAAGGATGAGGACTCCTTAATTTAGAGGGACTTCTGAAAGGTGACTTAATGATGACCCAACACTATATGTGAAATCATGTTTGGCTTCAAAAGCACTGTGGGCAGAAAAGGAGAAAACGTTTAATCTAGAGTACACAGTTATGGCATTATCTGGAGGGAAGGATAAAGCTACAAAGATTGTTAAAACTAAAATTTGTTGCCAAGGGAGCCATTCGAGCTCTGTCTGGAGATCTTCTAAATGAGAGTAAATTATTCTGTACTTGAGGTGGTTTGGGCACTGTCCTCCCTGAAGCCAATGTAGAGATAAAGTGTTGTTTTCACTCCTTCTAGTCCTGTGATTCTGCGTCTAAGGAGGCAAACCACCTATTGAATCAGTGCTCACCACAGGCTCCATTGCAGCATTGAACTGTGTCTGTGAGAAAGAATAAGGTTAAGTCAGGATTCCTTGATTAAGACGAGTTAATATAAACACTGAAAATCCAGTGTGCTGCCAGCATAGCTTTTGGCAGCATCAACACAGAGAAGAAAGAGCTGTAACAGAATAACAGCAAAATAACTTCGGGTCCTTCCTTCTCCTCCACCCACAAAATCCCATTTGGTGATATGAGAATCTAAATTGCTCAGTGCTTGGATGTTTGGCTGTCACATGTCATTGTTGTGTTGAACCTTCCCAGGCATGTACAGAGCTCACTGCTCAGGAGATTAATGTTCAAAAGCCAAAATGCTTGACCAAACTTGAAATCTATTTGTGGAATTTACTGTTTCATCATTGAACCATGAAAAAATAAATTCAGCAAATATAGTCCTAATACTCCAGCTCATCATGAAATGTCTCTTAATTTCTTGACGTGTCCATGAGTTAGAGACAGCTGAGAAAGGTTTCATTATCTTTGTCTACTTACATACATTCTTTCTCATTTCTTTTTCTTTTTAAAATCTAAGGCTTTTTTTACTTGAGAAAGGAGTTGTTCCGATTACTGTCAGTTTCTCTGGCTGATGTGATTTTCTCATCAGAAGCCTTGAACCCTTCTCCTTTTAACTTGATAGCAAAGAGAAATCATGATAGCTTCTTTTGACATCACTTTACACAAAAACAAACAAAACAAAACAAAATTATCATAAACTGGTAGAACAAGAAGACAGCATGTAGGGAACAAAACAACCATGTTCTTGATTCTAATGAGGTACATGATTTACTCCTACCATGGAAAATTCAAATATCTACCCTTGAACTTCAACAAGCATTTATGACTTGTTGATCTACTTATAGAACTAAATGATTATTTTGCAAAACATCATCTCTGTCTTTAAGTACTCCCTACAGAAGAAAGAAATGGAACATTAGTGTAAACATGATGGTCACTAAGAACTTGTGGACACTGAAGAAAGGCTATGGATAAATGATCCAACAATAAGAGAAAGCTTCTGAGTATGCCTCAGACCAGTGACTGACTGGGTTTTCTGGGAATATATTTTTTGGACAATGGGTCCAGGAAGACAATAATAAATATTGGAAAAACTTCCTACAGTCTATAAAATCCCTTTTATTTAGATAATCTCACTGGGAGGAAGGTAAGGAGAGGGATATTTATTGAGAGTCCGTGACAGAGAGATACACTGTGAGGTACCTTTCAGGTTCCATCTCATTAATTTCTTAAATTGACTCTAAAGAGGAATGTTACCTCAATTTTATAGATGATCTCCAAAATCCTCAAAGCTTTTAAGTAACTTGTCACTCTGCATAAGAATTTGCCTCCAAACTTAGGGATTTTAAAGAACTTTGTTTTTCTTTTTTCTATGTCACCCAGAGTATTTGGTCAGGAAAAGAACTTGCAGTTCTCACTCATAGTCAATTTGTTGGTAGTAGCCACTGGGTCTTCAGTCCTTGGAAGTCTAGACTGGGCTGGACTTTCAAGATGGTTCACTTAATGACTGGCAGATGTGACTGGCTGTCAACTGGGACCTCTCAGGGGACTGTTGACCAGAATACCTACATGTAGCCTCTATAGCATGGTGGTCTTAAGATAGCCCTACTTCTTATATGATGGACAGCCTCTCCAGATAAAGTGTTGCACAAGATCAAGTAGAAATGACCTGACCCTTCTGAGCAGCATCAGGAATTACACAGCATCGCTTCCTCCATACTCTATCGGTTGAAGTAATTAGAAGCCCACCAAGACTTCAGGGAAAGGGACATAAAAGCTATCTTTTGATGAAAGGAATGTCAAAATATTTTGGGGCCATGTTTTAAAATTACCATACTTGCTCAAAATACAACAGCAAGTAAGTGTCCACTAAAATAAAATACAACTCATAATGTGTGATGGACTTTTTTAAAATTTGTAAATGGTGGAAATTGACATCAGTGAGATTAAGGCTAGAAGAACGTATACGTTTGTAAATCAAATCACAGGAAAGGGAAGATGAATATGGCTTTAGTCACGTGTGGTTCTAGGCACCACTGCAGAAGCTTTTTCCATCAACTGCATTTGATTCGCTCTGTATGTTGGCTGCATTTTATCTATTGTAGACCACTATTTTCATAATGCTCCAGCAACAGCAAATGTCATCTAAAGGAAGGAACTCCTGCTCCTTGGTTCAAATTTGACATACTGCAGAGAACAATTTTGATACCTAGTTTTTGTCACATACAATCACCTGTTCAGTCCTTATAGCAGATCCTATTTGAGTCACGTGGTTAGAACAATCCTCGGTATTATAGAAGATTCCAAGGTGAAAGGAATAGAAGGAAAAATGGGTAAAATATGGCCACTCTATAGAAATCAAGAGAATTTACAGTGAATAGTGAACTAACTACCATCTCTTTTTGCTAAGAAACGCTTTGGGACAATTTTGTAAATTTTACAAAGGAAGGAATTAGTCTTTATCTCTCAGCAAACCTTTTGTTGACCAGAGGATCCTTGGAAAACCAAATGAGGGGCTATGTGATTTATCTGATAATGAGCTAGAAATCAGAGCATATACACACATCTTCATTTATGTACCACTTTTCAAGTATATTCACATGATTATTTCATTTACACACAATAGCTAAGTGTTATAGGACAAGTTTTATCTTCATTTTATAGCTAAGAAATCTGAGACCCAGAAAGTTTAAGTGACTTAATCCCAGTTACATAGGGAATAAATAGCAGAGCTAGGACTTCAACTCAGATTCCTCCTCTTAGACCAGTATACTTTTCACCGCGCCACAGGTTCGCCTAATGTAAAACTTAAGTTTCATTGATGACATGATACATGGGTAAAGGTTTTCTCTACTGGAGGTTCCAACCACTTGACTATCTCATCTTAGAGTAGCTGCCTGACAAAGCATTTTGGCTTCTATAGAGTAAATTAAACATGCCCTTTTATGAATGAAATTCATAAAAGTAAATTTCCTTTGCCAAGATTATCCTTCTTAAACATGACATCCCCTTCCGTAGACACCACTTATGGTCTCCCATTACACACAAGCTATTTTTCCTGATGCTCTCCCTCCCCCAACCCCCTTCAACAGGCCCCAGTGTGTATTGTTCCCCTCCCTGTGTCCATGTGTTCTTATTGTTCAGCTCCCACTTATAAGCAAGAACATGTGGTGTTTGGTTTTCTGTTCCTGAATTAGTTTGCTGAGGATAATGATTTCCAGCTCCATCCATATCCCTGCAAAGGACATAATCTTTTTCCTTTTTATGGCTGCATAGTATCACATGGTGTATATGTAACACATTTTCTTTATCAAGTCTATCATTGATGGGAATTTGGGTTGATTCCATGTCTTTTCTATTGTGAATAGTGCTGCAATGAACATATACATGCATGTATCTTTATAATAGAATGACTTATATTTCTTTGGGTATATACCCAGTAATGGTATTCTTGGGTCAAATGATATTTCTGGTTCTAGGTCTTTGAGGTGTCACCACACTGTCTTACACAGTGGTTGAACTAATTTACATTCCCACCAATGGTGTAAAAGCATACCTATCTCTCTGCAGCTTTGTCAGCATCTGTTTTTTCTTGACTTTTTAATAATTGCCATTATGACTGGCATGAGATGGTATCTCACTGTGGCTTTAATTTGCATTTATCTAATGATAAGTGATGTTGAGCTTTCTTTCATATGTGTGTTGGCCATATAAATGTCTTCTTTTGAGAAGTGTCTGTGCAGGTCTTTTGCCCCAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACTACAGGCGTCTGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGCTAGCCAGGATGGTCTCGATCTCGTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTGCCCCACTTTTTAATGGGGCAACATACCAGAATCTCTGGGATGCAGCTAAAGCAGTATTAATAGGGAAATTTAGAGCATTAAATGCCCACATCAAAAAGCTAGAAAGATCTCAAATTAACATCTTAACGTCACAACTAAAATGACTAGAGAACCAAGAGCAAACAAACCCCAAAGCTAGCAGAAGACAGGAAATAACCAAGATCTGAGCTGAACTAAAGGAGATATTGATTAAAAATTCCTTCAAAAAATCTATGAATCCAGGAGCTGTTTTTTTTGAAAAAAATTAATAAAATAGACTTCTAGCTAGACTAATAAAGAAGAAAATAGTGAGAAATCACAGAGACACAATAAAAAAAGATAAAGGGGATATAACCACTGACCCCACAGAAATATAGACAACCATTTGAGAATACTATAAACAGCTCTACACAAATATACTAGAAAATCTAAAAGAAATGGGTAAATTCCTGAACACATACGCCCTCCCAAGACTGAACCGGGAAGAAGCTGAATCCTTGAATAGACCAATAATGAGTTCTGAAGTCAAGGTAGTAATGAATAGCCTACCACCCAAAAATGTTCAGGACCAGAGGGATTTACAGGTAAATTCCACCAGAAGTACAAAGAGGAGCTGGTAACAGTTCTTCTGAAACTATTCCCAACTGTAGAAAAGGAGGGACAATTCCCTAACTCATTTTATGAGGCCAGCATCATCCTAATACCAAAACCTGACAGTGATACAACAAAAAAAGAAAACCCCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAACACCGGGAAATCGCATCCAGCAGCACATCAAAAAGCTTATCCACCACAATCAAGTCGGTTTCATCCTCAGGATGCAAGATTGGTTCAACATATGCAAATCAATAAATGTAATTTATTACATAAACAGAACTAAAGACAAAAACCACATGTTTATCTCAATAGATGCAGAAAAGGCCTTCAATAAAATTCAACATCCTCTCATGTTAAAAACTCTCAATAAACTAGGTATTGAAGGAACATACCTCAAAATTTATTATTTTGCCATTTATGACAAACCCAAAGCCAATATTATAGTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAAACGGCACAGGACAAAGATGCCCTCTCTCACCACTCCTACTCAACATAGTATTGGAAGTTCTGGCCAGGGCAATCAGGCACGAGAAAAAAATAAAGGGTATTCAAATAGGAAGTAAGGAAGTCAAATTGCCTTTGTTTGCAGATGACATGATCCTATATCTAGAAAACTCTATCATCTCAGCCCAAAACCTTCTTAAGCTAATAAGCAACTTCAGCAAAGTCTCAGAAAATAAAATCAAAGTGCAAAAATCTCAAGCATTTCTATACACTAACAACAGACAAGCAAAGAGCTAAATCATAAATGAACTCCCATTCGCAATTGCTATAAAGAGAATAAAATACCTAGGAATACAGCTAACAAGGGAAGCGAAGGACCTCATCAAGGAGAATTGCAAACCACTGCTCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAATATTCCATGCTCATGGATAGGAAGAATCAATACCATGAAAATGGCCATACTGCCCAAAGTAATTTACAGATTCAATGCTATTCCCATCAAACTACCATTGACATTCTTCACAGAAGTAGAAAAAACTATTTTAAAGTTCGTATGGTTTTTTTTTTAAAGTTCATAGGGAATAAAAAAGAGTCTGTATAGCCAAAACAATCCTAAGCAAAAAGAACAAATCTGGAGGTATCACGCTACCTGACTTCAAACTATGCTACAAAGCTACAGTAACCAAAACAGCATGGTACTAGTACAAAAACAGACACATAAACCAATGGAACAGAATAGAGACCTCAGACATAAGACCTCACATCTACAACTATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCTATTTAATATATTGTGCTGGGAGAACCAGCTAGCCATATGCAGAAAATCGGAACTGGACCCCTTTTTTACATCTTATACAAAAATTAACTAAAGATGGATTAAAGATCTAAATGTAAAACCTAAAACTATAAAAACCCCAGAAGAAAATCTAGACAACACCATTCAGGACATAGGCATGGGCAAAAATTTCATGACAAAAACATCAAAAGCAATTACAACAAAAGCAAAAATTGACAAATGGGATCTAATTAAATGAAACAACTTCTGCATAGCAAAAGAAACTATCATCAGAGTAAACAGACAACCTACAGAATGGGAGAAATTTTTTGCAAGCTATCCTTCTGACAGAGGTCTCATATCCAGAGTCTATAAGGAAATTAAATAAATTTACAAGTTTTCTTTTTTTTAATTTTTGCTTTTCTTTTTGTTTTTGTTTAATCCATGGGTGCTTATGAGAGTTTTGATTTGGTTAACATAAGCCAGACCGATTATCTTATAAACTAGGAAGTATGAAATGTTTCTCTTTTGGTATTCCAAATCTCCCTTCCTGTACTTACTTTCCTTCTCCTGTTACTGCAAGTTTATCCCTCCACTGAGAAGAAATTGCTTCAATAAAATTTGTGGTAGAAAAAGAGGATGATGATGATAGTACCTACTATTTAATCAGTGCTTACCATTTACATGTTATTTACTCAGTGCTTATTATGGGGCTAAGTTTGGCTTTAATGCATTATTTTGTTTAATCCTATCTACCCTATGAAATTGATACTGCTATTTTCCCCATTTTTTCAAATGGTAAACCTGGCACTCCCAGATTGAAAAAACCTGCAAAAAGTCCCACAGCTGGTTAGTGGTAGAACTGAAATTCAGTCCCTTATTTATTGGATTCCTAAATCTATTTCCTTTGTTATTCCAATAAACATAATAATGGACTACCAAATTAATTTATTACCTGCTTTTGCAATGCTTTCTTCTTAAAAGAGGAACATCTGTAGAAGCAGTGCTTAATAGAATATTAAGAATTAGAATTGGTGTGGTTCCTAGCGTAATAGGCTAGTACAGAAAATATTTTCAAGTTGCTGAGAAAAGGCTTCCCAGAATCTCCCAAATCACAAATCACACCACGTAGAGAAATATTCTCTGCTTTCTGTGACTGAAATGGGAATTAGGAGACCCAAATAATAGGACCAGTTATGCTATTACCTCTCTAGGCTTTAAGTCTGTAATCTGTAAAATGAGGAAGGAGGAAAAGATCATCTACAGGAATTGATCCAGGTTCAAACCCCCAATCTGTGAAAGATTGATTATATGTTGAAATGAGTATAATGAATGGATCTTAAGGTTATTTGGTAAACCTAAAATCTTAGCTTCTTCTCCTTTCTAAACTCCAGTTTCTTGGGCCTCATATAAGTCTTCTTTGAGGTGAAAGATATCCTGTAAAACACAGTGTAGTCAATTTTTCAGTGAATGTCATTACAACATTACAGCCTTGATGCTAATTCATCTCCTAACCTACTTTCCCAGGACTTGGTAGTAAAGACTTAATGCTGTTTTCAGCCCTTTTCATCTTCAAAGCTCTTACTAAAATGTCTAATTAATCTTCCAAATGTCACTAAGGTAGGCACAATCCAGTGCTGCCACTCCTCTCGGATTCTCTTCATCTTTTCTTGTCAATTGTGGAATTATGGCATTAGAGGAGACCTGGAAGGCTGTTTGGTTGAAAATCATATCTGATGCTTGATTTCCACATTCTTGCCAAGTGTTTATTCAGTGTAAGGGATAATTTGGGGGTGTTCTTTCAGCCCAAGGGCTGAGAATTGCTCACTTTATCTAGAAATCATCCCACCTAAGCAGAACTCCCAGGCAGCTAGGTGAATACAACATGACTCCCCATCCAACTGCTGTTGATTGAACACCTGCAGCAAACTGAGCCAATCAGAGTGCACTCCTCCATAACAGAGAATTGGAATGAAGCTACCACAGTCTCAGTCTAGACTATTTCTTGTGACACAATTAATAACCTTGGAAGTGCTGGTACATCAACCTTCTTTTATGTAAGCTGATCAGCAAATATAGAAGTATTAAGCAGATGTCCAACAAAGAACAGAGATCCAATATGGAGAAAAGAGGTCCCTCTGAATTTCCAATCACTTTCAGCTTACTGGTTACAATCTCTGGCTGAACCTCTGCATTTATGTCAAATTAGCATCCTCACTAATACTTCCAGCCTATTGTGGAACAAGTCCAGTAATAAACAATTAGCTAAACATATATCCATTTATATATACACATATGTACATATATACATATGTATATACAAAATATATATGTATATGTGTGTATATAGTTTAAAATCATATATAATGTCATATCTTAAAATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATAAAATCTTACAACTCCCTATTCTTTTCTTTCCTTCTGGGACTCTTCAGGCCGAAAGAACAACATAGAATCATAGGAGTCATGATTTTTCTCCTTCCTAGAAATGAGAGGTTTGAAGAAGAGATAAGGGGGAAATAGCTGAGTATTTTTCTCTACTATTGCTGGCTTCCTTTGAATCTATTTCTTTCTGATAGCGTGCTTTTTTTTGCTTTATTTTCAGGATGACTACATTATAGTCATCCCCTGCGTTATTGTAATGGGAATGGTAACTACATAAACCCACAGCCTAGTTGATTTGCAAGTATCCATATAAGTAGGAAGAATAAAAATTTTAGAATAGCAATGAATGCTAATATTTTCTCATGTTTCCAGATTTATGATTTGACCTTTCTACGCAACTGAAACAATTATTTAGATTTTTAAATTGCAACAAACCATGTCTTAAAATCATGGACTGTCAGCCTAAATCAAAAGAACGTTACTTAAACTGTATGTCACTGTAAATAACCCCTTTCCGAGTCCCCTGCCTGATGTGATTCAAAAAAGACTGTCAATAAAGTGTAAAGAGTGAGTTTTCAATTAGTAGCAATGACACCTTCATAGAGCCTGGAAATTGAGTACTTAACCCATGGTTAGGTTTTGAAATGTCCTTTTTCCTGACATGAAGTGAATTGTTGTCTCCTCTATATCTGCTCTGCCATCTCTACCCCAATCTTTTCTCTGAGTGTAGCCTAAGAGGCCACTTCCCTGAGTGTAGCCAGGTCTGGGTGGTAGCCAGTTCTGAGTGGTGTCAGTGTAGGAAAGGACTGAAGAGCACGTGGGTAAAAGATGTCACGAAAGGCAGGGATGAGTGGAAGGGAGCTCTAAAGAATAAAGGCCTCTGGCATCAAACTGCAATTCAAACCTCTGTCATGGTTCTGCCTTACCCTAGAGCACCAGGGTAGGGATCAGAGTTCTCTCTGCCTACCCCTGTTCTTCCAAGGCTGTCTAAAATATGTCACCTTGTACTGCATTGGGCAGTAGAGAGATGAGCCCATTCAGTGTGAATAAGAAAGTTCTTCTTAAGAAGACGAGGGATCAGAAATTCACTTTCGATGTCCCACTCAGAATAAATACACTTCCTAGCTGATCTTGGCATTATGCATTTCATTTACTCACTCAGCTTATCAGAAACTGTTTTTCTTTTGTTTTTTGTTTTGTTTTGTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGGCGATCTCTGCTCACTGCAAGTTCTGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCTTCCTGAGTAGCTGGGACTACAGGTGTACACCACCATGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTATCCAGGGTGGTCTCAATCTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCTACCGCGCCCGGCCATATTTTTTTTTTTAATTGAGCTCCTACTTTGGGATTTACTGGCTAACTATTTATACAGCTGTCTCTACAGTGGTTCTTAAGTTGTGGCTCCTGCATGTCTTAGTCTGTTTGGGCTGCTATAACAAAATACCTTAGACTGGGTCATTTATAAAAAATAGAAACTTAATTTCTCACAGTTCTGGAAGCTGGAAAGTTCAAGATCAGGATACCAACAGATTCAGTGTCTGGTGGAGGCTCACTCTCTGCTTCACAGATGGTACTTCGTTCTGAGTCTTCACACATCAGAAGGGGCAAGGCAGCTTCCTTCAACTTCTTTTATAAGAGCACCAATCCCATTCACGAGGTCTCTGCCCTACTGACTTAAGCACCTCCTAAAGGCCCCATGTCTTAAAACTATTGTTGGGGGTTAGGTTTCAACATATGAATGTGGAGGGGCACCAACATTCAGACCATAGCACTGCATCAGCAACAGCCTTATTGCCTAGAACTTGTTAGCAATGCAAATTCTTAGGCCCCATCTCATTTTCAATAAATCAAAATTCTAGATTTGGGGTTGAGCTCTTGTCTTTTCACAAGCTTTCCAGGTGACTCTGGTGTACACTAAAGTTGTAGAACCATTGCCCTAGAGGCCATAACTTAAGATAGAAAGTCCATTTAAGCCAATACCTTGAAATTATACTCTTCCCCTTCAGCAGTGCAGTAATGAACTAGGTTGGAACTTAAGGCAAAAGTTAAAATCAATAAATTGATTTTGTCTTTATTTAAAGTTTAGATATCTTGTTCATCATATCTTTTTTTTTGCCTTACTTTTGACTTTCAAAAATATTTGTCAGGATTCCTGAGTGTTTTGGTGACCACTTAAATTTAGCACCAGAGATGAGTGCTTCACTCACTGCACCCCCGCCCTGTAGGGAGCCATTCACATCAGGAAGAGAGAACAGACATTCAGAGCAGTCAGCTTCGTATCACCTTGGATTCTGCAGACCAGCAGGACAGTCATTCTGAATGTGGGTTGGGAGGACTCACGCCTCAGCTGTAAACAAACTTCAGCTTGCCCTCTGCTGTGGATGGTCAGGGTAGAATTGCAGGGTCAAAAGATATTTTTTCTGTTTCAGGGATGTAAGCAATAATTTCCAGAGTGGCTGTAGCATCCCTCAGCCCTCCTTTCTTTTGAACGCAATTTAAACCAGAGATGACTACTAATTTATTTATTTCCGAGGGAAGCCATGTTAATCAGGATGAACTAACTTGATTTAATGTGAGTGTCATGTTTACCCGTAGTTACTTTCCATTTTATTCTGCAGTCACGGCTGATTAATCACCAAATTGTGACAAGAGGGAAGTAATTCACACTGCAAGCCTGGTGCTTGTCTCCACCTTCAGTTTCATCTGCAAAAGGGCAGAGTTGCCAAGGGTTAAGGCCTGACACCCGAGTGCTCAATAAACCAACGAACTTCCCTCCTTCTTTTCATTCCTCTTTCATTCCAAACTGCAGGAACAAAGGGAAGAATATAAAAGCCATGCCCATAAAAATGGTAATTTAATTAAATGAACTAAAATGACTCCTTTTCAATAAGTTTTTATTTTGGAATAGAGGCAAGTGGTCAGTCCCTTCTATACCCAGCTAATCTCCTTTGCAGGCACTGAAGACGTTAAACCTACTGGCCTGTTCTGGAATGAATTCTGATCCAGGCTAGGCGCATGTTAGTAGGATCTGGCTCACCAGCTGGTGGCGTAGTAAATACTGTGGTGCTCCCCCAAGATCTCCTCTTTAGATCTCATTCACCCAGTCCCTGACTTCTGGGACTATCAGCTATTGATGGCTCACAGCTGCATTCCTCATTGGATTCACCCTCAGTCTCTGGGATTGGCCTTGCCCAAAGTTACACCCCCTGGCAAAGGTGGCTCACAGCCAGTATGCTGAGGTAGGGAGAAAAAGGCCCAGCCTCCTTGGGACTCAATTTGAGACACAGCGAAGGACATTTCAGCTCCAAAATTCTCCATAGGATTAGCTGAGGCCTCAGTTATAAATCAGTTTCTCTTTTACCCAATCCTGCCCTCCTCTCTTCCTTTAAATTATATCTCTGAGAGCCCACTCCTTCACCCCAACACTATTCATTTGGTATCTCTCGCCAGAGAACCAATGTAACTATCAGAAGTGGTTCTAGTAAGCAGCCTCTAAATGGGCTTCTGGAGACAGATCATTCATTGGCTGGCTGGCAATGAGGATCTCATCACTAGTGGGGATGGGATGGAGAACAAATGGCCCCAGGGATGCTGTGGCAGTGTAGTTAAAACTCTCACTGGTGGCGAACTTGAACAAAATTTTGGTGGAAGAAAATGAACTGGCTGATGCAATTTTTATAGTGCTAGAGACATGTGAAGGAAATGACACCCATAAGAACCATGGGATTGGGTGGTTGATGCTGAGTACCAATGACTCATTGAAGAGATATAATAACAGGCTCTGGGTGGTAAGTCATCAATTCATGACGAAATGTGCAGGCATGAGATAACTCTTTGGCGGTACTTAAGGTATCTCCTGTGGCTGGAAGATCAGACTCAAGATCAGGCTCAGGCTTTAGATCCACTTAGTAGTGGAACTTAAGAGAAGATTAAATTCTCTAACACAGCCGGCTTTCTAGGCCCAAGTTCTACTAGGGAAAGAGTGAGACACTGCAAAATGGGATAGGGATAGGTATAGGTAGATGCATTTGAGAACCTTGAACTCTCAGATTCTCCTGAGTGCACTGGACATATAGAAATGACCCACTCACACTTGTTAGAAGATAGTGGCCCCTTCTTTATTTAAAGATAATGCAGAGGCCTCCAATTAGGTAGATGCTATACAAGATAAGCTTCAGTTATGCTTTCCTGGAAACCAGACCAATAAAAAGGAAGGGTCAAATCCCAGCAAAGTCCATTGGGCCATGTGTTGGGCCTGCTAGGGGAAGATAAGACTATACGTTGAAGGGGCTGTAGAATTTGACCAGTACTTCCTGGCAGGAACTGGAAATATTGTAGAGAACTAGATCTTGAGGGTTGTAGGTCAAGCGAGATGGAATATAGGGTTGGATAAGAGAGAGTTTATTGATATGAGTGTACTCTCCTATAGTATTAAAGGACTTAACACCCTAGAAAGGCCCTTAGAGGTGGTGCTAACAGTGGTTAGAGTGGCTCTTGAAAGCTTAGAAAGAGTGATGGCACACACTAAGTGAAGTGAAAATGCCAGAATCGATATGGCCATATGACTATAGAATAAGTGAACAAAAGGCTCAGAAAAAAGAACATTCTAGAGTGGATTTATTAGTAAAGCTGGAAAACTCTCCAGTCAGATCAATTTCTCAGAAGGTCCCAGAAGATACTCTAAGCAGTGTGCATTAGAATACTGAATTAGGGTACTGAGAGATCACTTCCTAGCAGGGTGCTGTAAAACATAGAGCATGTGGTGACTGTGGAGAGGGCCACAGTGAGGTGGCCACTAGGCTAGGGTAAGGAATGTGGGCTTGCAAGGACCTACAAGCTCTGGACAAGCAGCTGCAGTGGAGCACCACTGGATTTTTTCCATGTCTACTTCTGGAAGCGCTGTGGTAGGAGCAGGAAGACTACAACACAGCAGCACCCCAGAAGCAATATCCCTCCACACCCTCTACTGATAAAGCTTATATCATAATGCTCACTGTGAAGGAGAAATATCTGGAGGACTGGCTCCATTATTACACAGGAGATAATGCATAATCGATTATGAGATAAGCAATAAATTAATGTCATTGTTTATTCTTTTGACAACTCAGATTCCATACACCCTTTTACACACATTTCAACTTTCATACAACAAGTAAATAACTCTGTATTTCCACCCTTATAAGATACAACTATCCTTCTTGCTGGTGAGGAATTCTCACTTTTCCCAACAGTAAGGAGATGTATATAGTTCCAACAGTCATTGTATCCATTGCTGGCTATGTCAATGACTCCCAAATTTCACTGTAGTCCCATTGAATGTTCTGTTACCTAAAGAGTAAAATTTAAAGTTAACCCACAACAGCTTGCAAGTAAAATGAAAACAAATGGGTAAAGAAGAGAGAATAAAATGATTAGCATACAAATGAATGCATATAACAAGTAAAGATAAAACACAAAATTACTACAGTTCTTATTACTTTAATTGGTTACAGGATTTGGTTGATATTTAATTAGTCCTTCTTTCAATACCACTTTTATATTTCCCCATCTCAGCCAGAATCTCAGCTAGTTGGAGTTATTTACCTGGTGGAGTGACCGAAATGTTAATTTCCAAGGGATCTAAGTTGTCAATTAACCTGCCCTTTTTTTTTGTTGCTGTAGTTTTCATTAACTTTTTTTTAAATTGAATATGGAAGTATAAAGAGGCACTCCGAAGAGTCCACTGTGTTCCAAACAAAATCTCCTTTGTCCTTGCTGTGCAGCAGTAACTCAATTTCCTCTTGGTATTCTGGATCAGTAACTCCAACAAGTAGAGTAATTTCTTTTTTCCTTGTTTGTTCAAGTGGCATAAGGAGCCCAAAATGGCCGTGTGAAAGTCTCATCTTCCAATTCAGTAGAAATACCATTGTGTCTCCCAGTGGAAATCTTACCTCCTTGGATACAAAGACCTCTAAACTCATAGAGCAAAAATTCTGTGAGTGAGTTATTAAGCAATCATAGTGAGAAGAGGCACCCTTACACCTTGAATCCTGGAGCCATGCATTGTGGCTATGGGGGAAACAGTATCATACACTGGTCTGTGATTTGAAGAACATACTGCATCCTATACACAAAATATTATAATTTTAGGGTGTTGTTTCTCAACCTGTTTAGTAATTGAGTTGTACATAAGCAATTCAACATTTCAGTGAGCCCAGTTGCTTCCAGGTGATGTGATATGTAGGAAAATCAGTTATGCCATAGATGTAAGTCCATTGCTGCACTTACTTTGCTGCGAAATGAGTTCCTTCATCAGACTCAGTGCTACGCAGAATTCCTTGACAGTAGATAAAGCTTTCTCTAAGCCTATGGGTGATGATACTAACAGAAGCATTACGTGTAGAGAAATCAATTACAGACCATATGTAATTTTGTGCCGTTTATGATATAAAAGATCAAATGTAATCAACCTGCCATCAGTTTGCTGGATGGTTACCCTGGGGAATGGTGCCGTATTAGGAGCTCAATTTTGGTCTTTGCTATTGGCAAATTAGTCAGTAGCATTAAGCAGGTTAGTCTTAGTAAGGAGAAATCTATGTTGTTTAGTCCCTCTGGCCTTGCCACTATGGCTATTTTATTGTCCCATTGAACAAGAGCTAGTATGACTAGAAAGAGGTTAATGAATATCATTAGAGCATGCCATTTTATCCACATCATTCTTAAGAGCTTCTACAGTGGATGCCCTTTGTTTGGTTTCACACAAAACACAAATATCTCCTGTCTGTGCCATTATGAGAGGTCCATTGACATAGTTCTTTCCTAGACCTCTTGTCACCAACTTTCCAATCCTGTTTCTTTTTAAATCCCTGACCATCTAGCCAAACTTAGCAACTGCCCAAGAGTTAGTGTGCATTTACAATTTGGCCCGTCTTTCACTCCAAGCATAGCAGGCAACCAAATGTACTACTCAAAGTACTGCCCATTGTGACAAGGAGATTCTCCTTCAGCACCACCCTTCTGAGCCATGCCTAGGTGAGGCTATAGTGATGCAGCTGTCCTCTTTTTGTTAGTACCATCATATCTTACAGACCCATCTGGCTTGACATTCTTCTTCCTCAGTAAATTGGATAATAAAAAATATTTCCAGAGGCCATAGGCATTGATCGAAATACAGAAGGCAATGCAACAAGAGTTGGTGTTAAATTAGTGTGACCAGTTTGCTTACTCTTACTTTTAAGACCTGCCTGAGCTCAGTCTTTTGTACGCCATTTTAGTTTCATGATAGATTGTTGCTGATGACATCTACTCTTATGAATACATATGGCAAACAATACCCAGTTTATAAGGATAAGCTTGGATTCCATGGTCAATTAATATCTCATGTTTAGGCATTCAGTTTCTACCAAGGCCCAACAACAAGTCAGAAGCTGTTTTTGTTTGTTTGTTTGTTTGTTTTTTGAAAGGAGAAAAGTTATTTGAAGGAGAGAGCAGAGATGTGCTCTCAAGTCTTAGAAATATCTGTTGTTTTTCTCCTACTAGAAGCTCCAAACAGCATCCCCATTTGTCACGGTCACTTCAAGTATCATTGGACTTGTTGGATCATAAGGACCAAGTAGTAGCTTGCCTTGTACTGCAGCCTAAACTTGCTTCTCTTGCTATGGTCCCTACTTGAAAGTGGCAACCTTACAGGTGACTCTGAGTATGAGTTGAAGTAGCACACTGAAATGTGGTATAACTTGCCTTCCAAATACCAGAAGGCTTACTAAACAAAGTGCTTCTTTTTCATCGTAGGTGACGTGGAGTGAATCAGCTCTTCTTTCATCTTGGAAGTAATATCTTGACATGCTGCAAACCAATGAACCATCAGAAACTTCACCGAGGTTTCAAACACTTGTATGTTGTGGAGTTTATCTCCTACCCTTTATTTTGCATATGTCATACTAAAGTATCTAGAGTACTTGCTAATCAGATCTAATGAGCATAATGTCATTGATATAGTGGACAAGTATGATATTTTATGGAATAAGATAGCCATGGTCTCTGCAGGCTACAATAACCCTTAGAGAAGAACTGATGGAACCCCGATGCAGGATTGTAAGAGAATACTGATTGTCCTCCCAGGTAAAAGCAAAGGTCATCGAGTGTTCCTTACAAATTGGTTGCATAAAAAAGCATTATTCAGATCAATAGCTGCATACCAAGTGCCAGAATTAATGTTGATTTGTTCTAGAAAAGATAATATATCTAGAATAGCAGCAGCAATTACAGCCACCATCTGATTAAGTTAACAATAGTCTCTGGTCATTCTCCAAGATCGACCTGACTTTATTAGAGGCTTAATTGGTGAGATAAATGGGGATGTGATAGGTATCACCACCTCTGCTATATTTAAATCTTTGATAGTAGCATTAATCTTGGCAATTTTTCTAGGGATGAGATATTGCTTGTAGTTTACTATCTTGATAGTGAAGAAATGTTCCAGGGGCTTTCATTTAGTCCTGACATAATCACCCTCACCCTATGGTCAGAGAGCCAATGTGGGTACAAACTGAGCCAGTTGTGATACTATTTATTATTTGATCACTGTAAGCCCCACTTTGACTATCAGGCCATACTGGCATTTTGGGTCCCCAGGAATTGTCATTAATTCAGATGACTATCCAATAATTTCCCCCAAAGGTTTGAGTATTTCCTTCTCTCCAGCACATTCTCACTCTAATTAGTGGCCACAGGATTCTGTTTACACCCCTTCAATTAAGGGCTGCTGAGTCTGTGAATTGACTAAGGTCTGGAAACTCAGGGAGAGGCCATGACTCTTCAATGTGGGGACTCAAGTTTTTTGCTCTAGATTTAGAGTTTATTTGATCAGTCAAGAAACACTTTAGTAGGCTATGTATCTATTTAATTCCCTGGAAACCATGATCAGTTAACCTACTGACAGATATTCTTGTGTGTCCAAGCATTTTGATTATTGGTACCTCTCTGATATCTATTATGATAAATATTACCACCTTCCCTTTCAGGCTAAGTGCTGCCACTTGGTCTAACACCTTTAGAATTCACTCCTGAGCATGTTCCCTGAGTTTCTTTACATATGCAGTAGCAAAGTCTTGCAATTCTTTTGGTTTGTAAGCTACAATGTCATGAGTTATAGTGTGTCCCGGCCCCTTGGAGCATGGTGAAATTTCACCCTAGTTATGGGTCTAGTGGCGACAAAGTGTGGTTATGGTAAGTCTTGAGAGAAATGAGCATCCATTTTCAAGGCTCTTGCCCCAGGTGAGGTTATCACAGGATTTCCAAGCAAGGTAGGCAACAAAGAGGAACCTAATTCTCTAGATAAGGAAGACTCAAAATCACATGGGAATTCCCAATTTTCAGCTTTCTCTGGATCCAACCAGATGCCGACATTCTAAGTTTAAGGATTTCATCATTTTCTAATCAATGTCTTCAACTTCACATTGGGAAACTTGACAAGACTGTGGATTTAACTTTTGGAATTCAGCAGTCCATGCAACTAAATGGTTGCTTTTTATTTTCAGCAATATTAGCACTGTGGCTACAAGAAAAAGGAAATCCTTTCAAAGCTGTCACGGAAGTTCTCTAGTTCTCAGATAGTCACTTAAGCTAAAAGTTGAAGAATCTGAGCATGTCATTTTCTTTTTTGTAAGTACTCAAGTGCATTTAAAAAATCAATCTCAAATCATAGTCCTTGTAGTCATCATTAGCCATAAAAGTAAAGTGCAGCAACCACTTTGGATCCTATGGTGCTTGTTTCAGTTGGCTCTTCGTCACAGTAAACCACAAGTTACAGCTTGATTAGTTACTATATCACTTTATACCATGGATTCCTAGTATCCTATTCCCCATAGTCAAGGAGCTCAGCCCTGCACTTCAACCCATGTGCATGATCTAAACAATACAAGAAGGCCTACCAAACAAAATGCCTCTTTTTTATGGTAGGTGACATGGAGTGAATCAACTCTTCTTTCATCTTGGAAGTAATATCTTGACAATTTCTGAATCCCATCTTTGTGAAACTAGTTCCACTACCAATTCTTTATCAGTTGACTTTCAGTTAGGAGACAGTAATCATACAGGAAAAGTTTAATATAGAGGATTATTCACTATAACAGAGGAGTAACTATGAGACGCTATAAATACATAAAAAGAACTCTAAAGAATACCCTAGGTCTGAGGGAGAGTACCTGAAGAAGACAAAATTTGGAAGGGAAGCCCCCTCCCTAAGCTGAGATTTAGACCTCTTTTGAGGTACAGTTTCAATTCATTTGTTGGAGAAGATCTCTGAGCCACTCCAGTATAGCAGTCACCCCATGTCTACAGGGCATACTTTCCAAGACACCCAGTGGATACCCGAAACAGAAGGTAGTACCAGACCTGACTGCTGTCAATCCAAACATGTTTCTGTTCATGTTTTCCACTCACAGATTTAATGCCTTTTCCTTGGTAATTTAGTACTTAACATGCACTGTAGCTATAACTTTTGCAGTTTGAGGTGGGATAGCAACTAGCATGAGTTTCTTTTTCCTTCTTCCCAATTTCATGAATAGAAGATTTGTTCTTACCATACATCTTAGCAACCTCAACCTATAATTTTTTCTCATCTCTTATCAAGTTGAGAACTTTCACTTTTTCATACAAAGGAAGCATTTTACTGCTTCTCTTTGGCACATCTGAATTGCTAGTAACACTACTTTTGTACCCTGGGGCCATTGTAACACTACAACCTATAATTTTTTTATTTCTTATCAAGTTGAGAACTTTCACTTTTTCAAAAAAAGGAAGCATTTTACTGCTTCCCTTTGGCATATCTGAATTGCTAGTAACATGACATTTGTGCTCTGGGCCCATCTAAGTAAAATAAGGGTGGCTAGAACACAAGCACTGCAATACTGAGACAGTTGATCTAATAACTGAGATGGCTCCTAAGCAACGAAAGGCGGGTGGCGTGTACAGCGTGGACATGCTGGAAAAAGGAGTGATTCATGTCCCGGGTGGGACAGAGCAGGACAGCACAAGATTTCATCACACTTCTCAGAACAGCATGTGATTTAAAATTTATGAATTATTTCTGGAACTTTCCATTTAATGTTTTCAGAACACAGTTGAGCACTGAATTCCTGGAAAGTGGAAACACAGATGAAGCCAAGGGTGGGGACTACTGTACTAGGCAAGCAGAAGACAGCCTCTGGGGTGGGTCTGGCTAAGGCTGTTGGTGGGGCTGGGCAGACAGGAGTTGAGTGCAAGCTCACTCACGGGCAAGGCAACCTGAGGCCTGGGATGCATGTTGCCTACATTGAAAGGGCCATGGCAAGGGGGTCGACTGGTCAGGGTCAGGGCTGCAAACTGGCCGAAGGACTGAAAGCTCCAAGAAAGTGTATGTGCTAAAGATGCTCTGGAAGTTGGCAGCAGACAGTTCAAGAAAGACAATGTAGGACACACAGGGTGTTGCACTGCTACTGACCTCTACCAGTGGTGAGACCCTCATGCCATTCACAGTTGTAGGAGAGTGAGTCAGATTGGTTGAACTTAAGATTCCTTTTCTTGGTGAGAAGATTACTTGTTCACTCAAAGGCTGCACATAACATGGGATTACTGAGATATCAGGTGCTAATAGGACTGAGGGATTAGATGGTAGACTGTCAAAAATTGACAGAGGTTCCTCAAACAGTTCCTGTTCATGATACCCCTTTTTGGGTGACTGAGAGATAAAGATTCCAGGTCTTGTTCCTTTAAGTTAAGGTATGCTATATGTGTGAAAGATCAGTTGAGTTTAAACAATTTCTAATCCTTCATTCAGCCAATCAATCAGTCATCTATTCACCAAACATGCATCAAATGTACATAAAGTGCAAAATCCCATTCTGGATCAATTAAATGCCCCTGCCACGCATTCATGCCTTCTCCTTTCATCCCTCTCATTCCTGCTCTTAGACTTTTAAGAATTTATATAATGGAGCCCCCAAATCCTCAGTTATTCAATCCCTCATGTATGTCATTAAAGTTTTTTCCACCAACATCTTCCCCTCAGCCTTCCCTCCTGTTTCCCAGCCTTGGTCATTTGAGCATTGGTTTGAGTCTCCATCCCAGGAAGGACAGGGAAGGAAAATGAGGTCAACCTGGACACATCTCATCTCCAAGACTATGTTTAACAGCTCTGGCAGGAGATTTTAACACAGGAAATTGCATAAAATATGTTTCAGGGATTATTTTTGGATTTCAGTGACCCATGTTCTTCCTGGCACTGATCATCAGAGCTAACTGAAAACTAGTGTTGATTAAAAAAAAAAAAAAAAAAAAAAAAGCCTGTGGGTTAAAACGGTAGCCACAAGCACTCCAGAAGGCAGCCACGGTGTGAAGAAGAGTACAAAGTCTTAATTCAACTTCTGGCTTTCCTTCTTAGTAACTGCGTGAGCTGTTTTATTGCTTTTTGAAACACAGAAACATGCAATGTGCACATACAAATATTCACGTGCATGTACACACGAATACTTTGTAGGTACAAAAGCCATAGAGGGTAGCAGCTAAGGCTGTGGGCTCTGGATGCAGATGGAGCTGGTGTTAAAATCTCGCCCTATCATTTTACTAGTTGTATAACTTTCAGCCACTTACCTTCTTTTAGCATTAATTTCTGCAGGTGCAAAATGGGACTAATTATAGTACTTATTTCATGAGGTTGTTGCAATAATTAAAAGAAATAATGCATGTAAGACTGTTAGTAAATGTTTGGCATGTAAAGAGCACCTAATAATAAGCAGTGGCTACTATTATATACACACACATATACATTATACATACATGCATAAGGCCATTTCAGTCAATGATAAACTGCATATACAATGATGATTCCGTATAATTATAATAGACCTGAAAAATTCCTATAGCCTAGTGACTACATAATATCCATCATAATGCTATTGCACAATGCATCACTCATGTGTTTGTGGTGATGTTGGTGTAAACAAACCTACTGCGCTGCCAGTCACATAAAAGTATAGGCTGGGCATGGTGGTGTAATCTTAGCACTTTGGGAGGTGGAATCAGGAGGATCACATGAGTCAGGAGTTTGACACCAGCTTGGTCAACATACCGAGACTCTATCTCTATCCCCCACAAAAAGAAAAAAGAAAATATAGCACATACAATTATGTACAGTACATGTACTTGATAATGATAATATATGACTATATTACTGGTTTATGTATTTACTATCTTATGCTTTTTCTTGCCGTTTTAGAGTGTGTTCCTTCCATTTATTAAAAACAAAGTTAACTGTAAAGCAGTCTTAGCCATGTCTTTCAAAAGATATTACAGAAGAAAGTATTCTAGTCACAGGAGATGACAGCTCCATGCATGTTACTGCCCCCTGAAGACCTTCCAGTGTGACAAAATGTGGAGATGGAAAATAGTGATATTGATGATCCTGACCCTGTGTATGCCTAGGCTCATGTGTGTGTTTGTATCTTAGTTTACAACAAAAAAATTTAAAAAAGAAAAAGAAAAAAAAACATAAAAGCTTATATAATAAGGATATAGAGAAAGAAAATATTTTGTACAGCTGTAAAATGTATTTGTGTTTAAAGCTATTATTACAAAAGAGTAAAAAAATTATAAAATTAAAAACTTGAAACAGTAAAATGTTACAGTAAGCTAAGGTTAATTTATTATTAAAGAAAGACATTTTTAATAAATTTAATGCCATGTAAGCATATAGCATTTATATGCACATAACTTATTCAATTTCTTTATTTAATTGCATATAATTCTCAAAAGACATTTCCCCCTATGGGACATGAGCTCTAAACAGAAAAAGTCTGCCACTCTAACTTCTAAAATATTGTTTGACTAAGTTATTTTCTAAATTTCTAAAAGAAAAAATCAGAAAATTCACATCAATGCTAGTACCCTCAGCAATACAGAAACAAAGCTAGTGTTTTTTTTTTTTTTTCCCTCGAAAGAAGCTCTCATTTTTCTAATGTTTTCCCTTAGGTACTATGTGCACTACAACTATGGACAGAGTGACTACTGGCAGAAATGAACCCATGTGAGAATTCTGGGATCGAAGAGAACAAGGAGCTAAAGGAAGTCAGTTGGATGATGTAGGAGGGAGGCTCCTGTTTTTCTGACATCACTGCCAGATGAAGCACCAAATAATTAGAAAGCTTTCACTCCATTTGCCTTGGATAGATTTAAAGGCTAGGCACAGTCATTTGTGTTAGTTAAAATCTCTGAAACCTTAAAAATAAATAAATAAATAAATAAAATCAAGTCTGTGGTAGTATACAGCAATGTCCTCGGCCTTCACATTCCCTCACCAGTCACTCACTCACTCACCTAGAGCAACTTCTAGTCCTGACAGCACTGTACATGCCCTGTATAGGTATACCATTTTTATCATTTATACTATATTTTTATTGTATCTTTTAAGTGTTTAGGTTTACAAATACTACTGTGCTACAATTGCCTACAGGATTCAGTACAGTAGCAATCTGCACAGGTTTGTAGCCTAGGAGCCATAGGCTATGCCATATAGCCCAGACGTGCCATAGGCAATATCCTCCAGGCTCTGTAAGTGCATGCTATGATGTTTGCACCACAACAAAATCACCTAACTATGCATTTATCAGAAGGTACTCCTGTCACTAAGCAAAGCATGACTATACCTATAACCTTGAATTACTAGCTGTGTGACCTTTATATACCCCTTAACCTCTCTGAGCTGCCTTTGCAATTTGACATCAATAACCAACTCCAGGTTTGCTGTCAGGATTAAAGAAGAAGAGTAGCTAACATTTACTGAGCTCTTACTACTGTATATAAAAGGTCCTCATACAATATACAGTACTATCAGGTATAAGATATTATTGTGCACAGCAGCTGGTTAAAGGATTCTCAACAGAAGAATGAAATTCACATTCACTTCACAATCACCCTCTGATTAAAATGCCACTTGGGAAGTACAGACCTTTCATTCTGAAATGATCCACATTCCAAACAAAAGGTTAAATAGAAAGTTACCACTTTGACTTCGCAATCAAAGGTAAGTTCAATCTGTCAGCCTGTATTTATGAGGCAGAGAGGGAGCAATGACAATACTCTGAAATGAAGTTCACCTTGTTCAAGAGATGCTTTTCTGTGGAACACTGAAAACCAATACTCTGAAGCCTCTGGCACAGTTGAACTCTCCTTCCAGGTGAAAGAGAGGGCACAGAACCAGTAGGATATATATGTACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGATTTTAAGGAATCAGCCCCTGGTTTTGGGGCTAGTAAATCTGAAACTTGTAGGGCGGACTAGCAGACTGGTAACTCAGGCAGGATTTCTATGCTGCAGTCTTGAGGCAGAATACCTTCTTTTTCAGGAAACCTCAGTCTTTGCTTCTCCCCACCCCCCCTGCTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAATGAAATGGCACGATCTCGGCTCACTGCAACCTCCGCCCCTGGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGACATGCATCACCATGCCTGGCTAATTTTGCATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTGGAACTCCCGACCTCAGGTGATCCGCCCGCCTTGGCCTCCCCAGTCTTTGCTCTTAAGGCCTTCAACTGATTGTAGGAGGACCGCTCACACTAAGGAGAGTAATCTGCTTTACTTAAATATTGTAAATGTTAATTACATTCACAAATACCTTCACAGCAACATCTAGACTAGTATTTGACCAAACACCTAGGTACCTTAGCCTCACCAAGTTGACATATAAAGTTAATCATAACAATGAGGGAAAATAATGACTAATTTTGCTTGGGTGGTTAAGAAAACCCATAGAGAGGCAATATATGAGTTTTAGTCTTTAAGAAGTAGGAGGAAGTGGGGCAAGGCTTTTCTCTAAGGAAACAAAATATGCACAAAAACTTCTGTCAGAAGCAGCCACCAACCCACCAAGGCCTGACCAAGAGCGTGTGCTCCAGGAAGAGGCACTTTCTCAGTGCAGCTGAGCAGAGCAGCCCACAGGCCTGGGGAAAAGGAGGCCCGAAAGGCTGCCTGGCACACCTGTTTATGAGCTACCTAGAAGGCTGTTTTCACCAGTTAGAATTTGTTTTACAGACAACTGAAACCCATTTAAAGTATTTAAGCATTAAAATGACATGGTGGAAAAACTAAGTTCTAAAATAATGGTTCTCAAACTTGAGAACACACAAGAATAGTTTATGAAAATGCCAATTCTCAGGATGTTCACCTAAATTTTACTATTCTACAGGGCCCATTGAGGTCCATTGAACAGATTTTTTTACCAGCACCTAATGAGTCTTATGCAGATGTTTTGGAGACCATACTTTGAGAAGCAGTGTTCTAGAAAGGTAACTCTGGCAGCAGAGCATGAAATGAATGAAGGAAAGTAAGAAGGCAGGCTGGGCTCACCATCAATTGGCTTTGTCCATGGGCAGAACTTTTGCTCATATACCACGGTCGGTCATGTGGGGTGCAAGTGAGTGGCAGTATTCTCTAGAGACAGAAGGCATCATAGGCTCATAGATTTTCCTCTCCATATTTGCATGTTCTTCCATTAAAATGATAAAAACCAGTGTTTCATTTGCTTCAATGTCTTACAAAAAGCCTTGCTTTGACATTTTTACTCAGAACCTGTCCCCTCAGTCATAAGTCCTAAGAATGACAGGATGGGAAGCAAATCTGAGCAAATATTCCTATTTTCTGTATTTCTCTTTCTTTTTTTTTTTTTTTGTTTGTTCGTTTGTTGAGACAGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGCCTCAATGTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGATCTTGAACTCCTGAGCTCAAGTGATCCTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTTTGAGCCACTGTACCTGGCCCTGATTTTCTTTTGATAGAATGAGTTTGCTCTCAGGTTTGTTGGCTCCTGATGCAAATACATTTCTGATGGTCTTTTTTCACCATTTCTTCCAAAATGACCAGATGTTTTTGAATTCCATTGGGGAACACAGCTTAGGCTCTAATGGGAACCCCCAGCCCACATACATACCAGTAATTGTGTACAATGCATGATGAACAGATCTGTTTTCCTGTCTTCACCTATAGAGTTCCAGAGCTCATCTGGTCTAAGTACAAATCTGAAGCCTTGGACTCACCACTGGAGTTGGTCTTGCTGCCAGTGTCCCTAGGTGGAGCCCTCAGTGCATGTTTACTGACCAAGTTGAGTTTTCCCTCATCCCTATCTACCACAGTCACCCAGTTGTTGCTTGGGCCTTAGTTTGCTGATGGACACTCCAGATTTTTTTCCTTGGGACTGGAGCTCTTCCCTAAGCCACATCCTCTTACTCTGGGCCTTAATTCATGACCTAACTCTCTCTAGGTCCCTCCCCACCAGGCTGAATTCTGCTCTAAGCCAAGGGGGGTCATGAGAGTCTCCATGTTGCAACCTGCCTCACTGTATGCCTGGTACCTGGCCTGGAACTATGCCAGATTAGAACTCTTGATGTTGATGTTGGCTTGATTAAACTATTTTTGTTTATTTCATTCCTTAGGGCACTATAGTTTTTCTTTCTGATCACCCTACTCCATAGTCATATTAGTTCCCAGGCCAAGCTCTGCCTTTTCCCAGCTCCATCCCTTACAAGGCTATGAAGAAGGAGCTAATGGATCATATTTCTAAGCCCAAAGAGATGTGCCATTACACGAAGTCAAAATGCTGTTGCAGTTCACAGAAATTAAAGTTTGTTATATTTTAAGTCGACTCATGATGCAAATTCACATAAAATTTTGTTAAATGCCATAAAGAAAATCCAAACTTGTCTATTACTTTTCTGGGAGGACCCAAGTAGAGCTATCTCCACTCTCACTTCTCGTCTCTAAAACTGGACAGGATATGCTCTTCAAACGTGACTATCTTAAATTCAGGGGAGGAGAAATGAGAATTTCTCCTCAGACATCCTGAGATCATGTGCTCCAGCACAGATTTTATTAATGTTATTTTGCTTTCCATTTGGCAATTGTTTCTTGTGTGGCCAGCTCTACAGGTTAGGATGGAGACACCATCCTCTGTCCCAGAGACAGATGGAGTCAGTAATAGAATTTGGGTACCAAACCCCAACTCTTAACTCTAAGACGATATATGTGAATGTAATCTGTGAACTTCAGGACACTCTTCAAACTGTGATATCATAGTTATTTCAGACTTAACATAAACGAATTAAGAATGGTCAATATGTTGTTGACAATACAACCTACTCATTGCCTCTCTGCAAGGTTTTTGGATGTGCCTCTTAATCCTCAAAGGACAGAGAGGATCATTACTTTTGTCAGAGTCTTAGAGAGGGTTTGGACCAAGAGGACACTGTTAATAAATGCTATGAACCCTTTGTCAGGAAGCTACTATATGAATACTAAAATTCATTATTACCTTACAATGTGCACAAAAGAACACCTTCTCATTGTCACCTTAGGGGCAGGAGAAAAGTAACAATTTTATCAGCACCTGTGATTCTCTGACACAGAACTCTCTCCAGGAAAGCTGTTGCATTTTGATAGACCATCAATCTCAGCTCTTGGGCAATTGGCTTCCACCTAGCTGATGTGGAAATCAATCTTGGTTCCCAGAGGGCAGAGCAACTGTTACCAAAGGTTACAAAACAATTGCAGTTCCTTTTCTTCAGAAGCTAGTATAAAAGGACTTCTACCAGTCTTGGATAAATTTATCTCTCTGCTCTGCTCTCAGCTCCTCTCCTGGCCAATTTAGGAGAAAGAATGATGGAATCCAAAACACTGATGGTAGGAAAGTCAAACGAAAGGGCTGTCATTTTTAAAAAATATGATAACAGAGGTTAAACTGAACTTAGAAATATGGAAAATTATGCTATTTCAAGTTTCTCACATATCTGCCATGAATTCAGCCTAAGGCTAAATTCAACATATTCCCACTGTGTTACACATGCTGAATTCTGACAATAGACAATAGCATCCCAACAGGACACTTATAATCAGCTGGGTCTCCATCTCCGTATTTCCTTTATTTAGTCTAATAGATTGCCAATTTCTGTCATTTTCTTTCCTTTTCTGTCTCATCTATCTCTATTTTTCCTTTCTCCCTGGGAGAAATAAAACACAGAATTTCACCTAGATTATTGAGATAACTTTCTTAAAGAATCCCTACTTCAAGACTTTTCCTCCAATTCATTCATCAACTGATCATTGCAGGCCTGCTTTGTGCCAGGCATTTTTTTCCCACATCCTGAGAGGTGCATATTATATGTCCATTTAATGGATAATGTTGCTAAGGCCCAGAAAGGTGAATTGCATAGGACACTCAAAGTTACATACTTAACACTTGGCAGGTCAGAATTTGAATTTGGGTCTGTAGATGCCACATTTTACTGTTTGCCATTCCATTACATCATGTTCCTTCCACCTGACTTCCTTGTGGGCCTTCTCCAACAAAACGTTCACTATTTCACACCCCTCTCAAGTCTCCAATGGGTCGCCCATTACCAAATTCCTATGTCTGCCATTAATATAACCTGATGCCAAAGTCTATGTAAGTCTGATTGGGCTGCTATAACAAAATATCACATACTGGGTGGCTTAAACAACATACATTTATTTTCTCACTTTTCTGGATGCTGAGAAGTCCAAAATCAAGTTGGCAGCAGGGTTAGTGCCTGGTAAGGGTTCTCCCCTTGGGTTACAGTTACCTTTTTACTGTGTACTCACATGGCCCTCTCTCAGTGCTTACATGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGTGCATGAAAGAGAGCTCTCTGGTGTCTCTTCTTATAAAGACATTAAACCTATGGGATCACAGAACTGCCTTTATGACCTCATTTAAACTGAATTACTTTCTTAGTGGCCCAATCTCCAAATATAGCCACAATGGTTTTAATGCTTCAATATATAAATTTTGGGGTACATAAACATTCAGTACATAACACAAAGTATCCAAGTAACCCCGTATTTCTCTCCTCCTTCTTAGAAACTTTTCACCTGAAAAGCTGGTCTGTTATACAACTTTGCCAATCATCATGGACAGTTCATGTCTTTTGCCACTTCTGGACCATTGTTCTTATAATTTCTCCTATAATTTGGAAATGTTTTTCCAACTCCTTTCTACCTATTAAAATTATACTCATTTTTAAGCCAAACCTTATCCCACATCTTTCTAGAACTTTTAAAAATGATTTTCCTGACCCCAATGACATTTTCTTACTCTGAACTCTGGAAGCACTTACTATCTGCACAGAAGGCTGTATACAGATTACTTGGTGTCACTGTTGATTTTTCCCAAGGTGCTTCTTGCTAACAGATTCTCACTGTACATGGACACCTTGACGTTACTTGAGATAATGTGGACCAATGATCAGCTAGGCCCCACTTCCTGCATTCCTACAACCTGCTCCTTTTCTCATGACATAGATTTCACTGTGTTGCATGAGGCTCACTCATACTGAGTCTTTTAAAATTTTCTTTCTCCTTTTTCCCATGTCCAATTTTTCTTTAAATAATTATACTTTATATCCTATGTTTCAGTCTACTTGCTCCTTTTCTTCTTTTCTAAAAAGCACCATCTTAAGTTCTTTTTACCTCACTTGCATAGAGCATCTGGCATTCACTCTCTCCCTATCTTAATTTACTTCCATATACCAGCCAGTCAGTCTCCCTCCATAATTACCTATTCTATTATGCTCCTTACTGCATTGTTCAGCTCTTTTTTCAGATCCTCTGGTTTACAAGTTTGGATGTAGTATGGAAGCCTCATTCGATACCACTAGATTATAAATTCTACATGACCTTTTGCTGCTGCTGTTATCACTTGGTTCATGCTTCATAGAAACTTGTTGCTTGGTTGAACACCATTCTCATTTCACTCCTCATCTCAAAGTCTTACGGTAAACCCATTGCCCATTTTGGCATCACATTTCTACTTGCTCAGATGCATTGTTAAAACCTAAAATCAATTCTCTGTCTTCACGTCACTCAGTCATGCTTTGCTGATTGCCTTCCACATTTTCCTCTACCATAGTCTCACTGCTCCAAAAACGTGAATCTGACTAGACTCACTTACCCTTGCCTTACTTCTGACCTGAAGGATCCCACACTGTCTTCTAACCTGGGTGTTGGAATCTCTTATGTTCCAGGCAGTTGTGTGCTTGTTGTCTCCAACACAAAGACAGAAATGATTGCAAACCATAGCAAAACATGACAATGCAACATAAGCCCACAAGAGCAAAAAAGAAAAAAGAAGACAGAATTTTAATTTCTATGTATGATTCCTGATAGCTCAATTAGGAAATGTCTGAATTGAGATTTGGCTTATGAATCCAATCCTTAAACCAGGCAGAGTCACATTTGAAACAGGAGTTAGGGTTTAAAGACAACATGTAAGGTGGAAACTATGCAGAACATTTCTTAGAAAATGTTGGACTGACACATAATCCCTCCCTCAACAAGTTTGACATGGAAGTTTCTCCTGTTTTTTTTTTTAATTGGAAACTAGATGAAATAGTTGGCATGAGTTGAGGACACATGTTGTACCAAAAAAAAATGTGACTTTAAATAACAAGCATCATTCAGCTCAGGAAAATGTTCACATTATGAAAGTCACATAAGATACGACACAGGCCTTGAGAAGAGCAGATTCACATTCATTTTAAAGTATAAATTCATTGTCAGAAATGGCAAGCTCTTTCTACTTTTCATACTGCACAGAGACTTGGCTGCTACTTTTTCCAGTGCACAGAATAGCTTACGTAGCAGGTACTCAATAAGCACATGATTAAGTTTAATAGTGTCGCCCTTGCAGTTCAGAAATCAGACCCTCACAGGTGTCTCCCTCTTTTCCCCATTTCTCCACCTTTGCTCCATCAGGCACTTGAGTGCATCAGGGACCTCCCATTGCCACCGCTTGTACAGCATGGCAGAGCACTCAGGGCCAAGCCCACAGGAGTATTTCCTGTGTGGTCTGGCGTGATAGGAATATTTGCACAAATTTTCTTCATTTACAGCTAGAAAAAAGAACTGAAGGCTCCCCCAATTAGCCTCCATAAAAAAGTGCTAGTTAAGGAGACAGTAGTTTATGGAAATGTTGCCTGTAATAAAACTCTTTAATAATTTCACTATTTTGTAGGTCTTAGAGAAAGCACATTACCCTCACATGAGCAATGAAAGCCCATGAAATCTTTCAATTTCCTAACTCTGAAATCTTTTCAATTTCCTAATTCATGTAGTGATCATCCCCTTAAATTTTCATTAAGGTAGAAAGAAATGTATAGTCTTGTCATATCTATATAAGTTGTCTTGAATTTATAAATGGGGATTTCCCAAAAATTTACCTGTAAGTCCCTTCTTTGGAATTTGGAACTATTTCCCCATAGAAACGATGTAAACCATGGTATTCAAGTCTCGGGCCAGCCCACAACGGCCTTTCCAACCTGTGGTGTAGGTGAATTGGACAGATAAAATCCCTAAGCCTTGAATAGCACAAGACCTAGCCTCAGCTCTATGGGACAAAGACATGGGACCCAGGCCCTGAACTTCTGCTCCTATTCCATGAATCTTGAGAAGGATAAGATCAGAGACTGGAGGGTCCCTCAGTTAGAGCTCAAGGCAGAAGAGAAAAAGGCTCAAAAAGAAGCTGGAGACTCAAGAAGCATCTGGGGAGGATCTGGTATAATGTAAATGAAGTCTGTCGCATCAGGTGCTTAGAATTGCACAAAATCTCCCATCTTTGCTCTCTTCCTATCTTTCTATGTTGTTTTCTTCTCTTGAAAGAATAGGGGCTTTGAAACATTCCCTTTCCTACTGGGTGAACTTAGCTCCTTTTTGGATGCTTATGCTCTTTCATATATCATATGGAGATAATATCCAACTTGCAAGTGGTAGATATTAAATACAATTTAGTTGGTACATAGTAATATTGTAATACATAGTAATATTGTAGTACATAATAACTAATGTTATTATTACAATGCTGCTTTACCTAATAAATTGTAGAAGAATTTGAAGACCAGGCAGTTTTTACAGGCAGGCAGCCTCACTATTGTAATATTTTTCAATGTTTAATGTATTAGGTACTAAACCAAAGTACAGGCAGCCCCAGAGAGGAAAGAACAAAAATAATCACTTGGAATGCAAATATGCATGTTGCAGCACCCTAGCTGAAGACAACTCTGCTGATTTTGCTAATGTTGGGCAGTCTCTTCAAATGAAATATACTGCCCTAGTCAAAGGATAGGCTTGAGCTGCTCCTCCGTTAGGTTCCTGGGTTGACCAGAATTCTTCATCCTCATGAAGTGGGCCCTGTCTCTAAGATCATATGTGAGATGAAGGTAGTGAACCCGTAACCTTGTCTCATTCATCCTTAACATGATCTCACCTTCTCCCATTGGCTGCTGGAGATGCTGACCAGGCCAGTCTTCTACATGGTAAATCTAGCCTCATGGAATTTTCAACTTAGCCTCTTTGTTTTATAGGCTTACAAAAACTCTCATATAAATAAAATCCTTTGTTTCTTATTGTCCTATGCCAGTAAGTCCTTGAAGCTACAACTATTTATTGTCTTGCACTATGCCTGCTGTTCAGAGTTCTTTTTCAGTCTGGATTCCCTAGTTCTCTGTCAACCTGGCCATTTCCACTAACCTCAGAGGTGAGGGCCATTGCAAAAACAGTAAGAGGCTTAGGAATTTAATCAGTAAAACTGAAGCAGCTGCTGGTGAATATCTTTCTAAGCTTTTACTGTTGATGACTGAAAACGCCATGTAGCACATGGATGACAGAGAGATGACAGGTCCAAGTCATAAGGTAGTGTATAGAAGCAGACAGCCTACTGCCCAGGGGGAAGGGCTTTGGGTTTCTCATTAGGAAAACTAAGGTCTAACTTAGCCACTACTTAAGATGTGACCTCTAGCAAGTACTTAATCTCATTGTACTTCAATTTCATTACCTGAAATAGATATCATAATACCTGCTCCAACTATCTGTATTGTTTTCTAGATCAAATTAGATAATAGGTAACATATTTTGAAAACATACAGTATATTACACTAAGCATATGCAAGGAATTATATTGTCAATCATGACCATTATTATAAAACTATTCCATAGCCTGTTAGCTTGCTCTGAAGACAAATGCCATGTTGACCTCTTCAGTATGCCAGCTATATTCCCAAAGGATACACTGACCTTTTTGATACAGTTTTCTGTTTTTTGGTCTATTGCATTCTCTGTTTATTGGCCTGTGTCCTGCCTTGCCAGCAGTAATCAGCTTTCAGCTTTGTTTATAAACTCCTAATTGCAGTTATTTTTCTTTTACTAGATATTGGCATCAATTAATAAATGTTCATTGAGCATCTGCTATATGAATTAGACAGTTTACTGGTTCCTAAAAATGCAAAGATGACTAAGGCACAGTCCCTAAACATAAGGAATTTATAACTGATCTCAGGATTTCACAGTAAGGGAAGAAAGAATAGGAGATACACAGGGATATTCTCAAGGGCTATGTTTGGGGATAGCTTTCATCCCTTCCATTTACACTCTATTGGACAGAAGACAGTACACAACCCTAACATAGCAATAAAGGAAGGTAGAAACTATACTCTTCTTGTGTGTCCAGAAAAAAAAAATGATAAAACAGAATGTGCTGACCATTTAGCATCGCTTCTGTCATATGATCCAATACAAGATTGATTTTGGTATATACATGGCATTAAGGGAGCAGAGACAATGCAGTCATTACATTGCTGAAAGGTTGGGGAAATTGATGTTACAGCGGAGACTTGGAAGATGATTGTGCTTTGCCAACGACTGAAGTAGAAGAAGGGCACTTCAGAAGAAGAGTGTGGAACAATTGCTGAGGCATCAAGAAGCTCATGCTGTTTGCAAGAACTGATTTATTAAGTTGAATTCTATAGCTTCATGGAATATGATAAAATACAAAACTGAAAAGCTAGATTGGGAGTACATTTCTAAGGTCCTTGAATGCCAGGTTAGAATTTAAATTTATTTTGCCATGTGGTAGGAAGCTATTAAAGATTTTAAACACGGAACTTTGGTGTGATTTGAAGAGAAAAATCCTCTGATGGCAGAGTACGGAGGAAATTGTAGAGTGAGAGACTAATTAGGAGATGAACTATGTCAATGGTTTTCAAACAGAGCTGCATGCCAGAATTTCCTGAGGAACTTCACAAATACAGATATATAGGCCCTTCACTGAACTAATTCAATCAGAATTTCTGGGACAAATACTGTGTTTTTCAAAATGACTTAGGTGATTCTCATGTAGAACCAGTGTTGAGAGTCACTGATCTATACCAACAAAATTATAAAGGCTTCAAGAGCAGTTCTGTGTACTCGACATATTAACTTCTGTATTTGGCAAATAGTAAGAGACCACGATACTTTAATTCATTGACTGATGCATACTCCTGGTCACGAGTAAGGTTTTCCCAGTGCAGGTCTGTGTTAAACCTTGTTCGGGCTTTGTTCATAGGAATAAATTACTTTGGGTAGCAGTTTACACTGGTTGGGGGAAGCAAATGACTATGTCCAGACCTCGTGCTTGTCATTGTCAAATAATGTTTGTGTGTGTATGATTAGATGAGAGCAAGCATAGGATTCATCAACAATTATTGAAACACCTTCTAAAGTCTCATCTGTTTTAAAATATCTACTTCAACAACATAAAAAGGACTCATTAGTCTACCTCCAAATCTTTCTGATATTCATCAACTTCTTCAACCCCTCCCCCTCGATGAATTTCATGGGGCTGTTATTCACATCCCTTACCACTTCCTAAAGTTCTTGGATCTCCAGCCCTCCTGGTCACTATCTTCCTTTTTCTGGTAGCAGAACTGCTCCCCTCCTCCAGAGTGCTCCTGATCAAGAAGAGTGGGTATGCATCTTCCCTTTAAGAATGGGATCCTCTTGGCGTGGAGCTCTCTCTGGAAATCCCTTAGGCAGATGGGGTCTGGATGTTCTGGAAGTGTTCTTTATCACCTTGGATACCCACTAATATCTTAAACTTGTCTCCTTGAATGGCTCTTGCTACCCTCTCCTACTGGCTGTTCCATCACAGCCCCAGGGCTCACTTACATTTCAAAATAGTTCCCAATATTCACATTTACCATCTGGTCCTAGAAGGTCTCTCCTCAACAAATAGACCCATTTGCAATTAGACTGCAGTCTTATGCTCTCAAAAGCAGTGTCTCCAAGGAGTTCTCAGGGAGAGCTGCAGTACCATACAGCTTTAAAATAATGAAATTCTCCTAAGCCTCCATAATTTCTTTAGAAAATCAAGCCTACATTATGCCACATGTTATAACACTCTAGACTGGCCCCTCATCACCAGGATGCTGTGCCCTGGTATGGTAGTAGAGAGTCCTTCACCTCTTTAGCATCTGTGGTCAGATGCAGCAAAGTACCACATTCCTTTTCACCTGCTCCCCACAGGTTGCAAGAAATATGTACACATTGGCTGCCTGGAACACAAATAGGCATCTCAAAGCTTCCTACAGTTAATACACAAATTAAAATTTTATAATGACCCTGGCTACAGTTATATTTCTCTATTATCACTTGAACCTGCCTTTTTTCCAAAGCAGTTGTATATTTTAGGTTTTGTACTATATTTACAAAGTATGGGGACTTAAGGAAATATGCCCTAAATAAAGCACTATCCGAAAATTTCTTACCTACATTTCTATCCATGATGCTCAGAGAACAGTATTCAGTTTATGAAAACAACAATCTCCTTATGAAAGATAGCACCAGATGCTGCTTAGGCTGCAGAATTTGCAGCTGTGTGTTAGTGTTCACTAGCTCGTGACTGGTTTGTCACTTCTCTATGGCTTTCCCCTCTCCTGGGAGTGTGAGAAGTGGGAGAGCATTGCAGCTGTTTTATCTCCAGCGCTCTGTGGAAGGAACTCAATGACTGCTGCTGCATTCAGAGGTTGCATATCAGCTGCACCGCTGAGCAGCTGGAAATGAAGCTGATGAAAATTTTGGCTATGGTTATTCTACACGTTACGGGTCTTCAAGACCTGAGTCTTTTCAGAAAACATGAGTGGAATACAAATAGTTGACATCACACATACACCTCTTGCAATCTTTCAACACTGCTTTCAAAGCAAAAAAATTCCACTTCACAGGAATATGAAGCTGCCAAGTGTGAAGCCTGGTGTTCTCATTTGCATATCAATCCCAGAATGCTTTTCCAGCCTCAGCCTTTCTGAGCTTGAAGTTTTAGGCAGAATAAAAGAAAAGGCTCAGGTGTCCCTGTACTTTTCGAGTTTTGTGTAAATTGTATCTATGATAGACAAACAAGAGAAGTAGGGATTTTTCCCTTTGTCCCAAGCTTAGAGTGACTTCAAATGAAAAATGAGAGTTTGGAACAAGTAGAAATAGCATCATATTCACTCATCACCATTTGAAGTAACATTTCAGTGGTTGGATTCTAGTTACCTCCAATCTGTTTTTATCTCTCATTTCAGTTGCATACATTATAGATTCAGAGATATTGAGAACTGGAAAGGTCTCTACAGATAATCTAATTTAAAGTGTTCCCCTGTCAATGGGTCACCATCATCTGTGTAATCCTAAGCCAGTTACTGCCACCAGCTCTGCTCTCCAATGAGTATACTGTTAATATTTACCTCCAAAGACAGCTGGAGTGACAGTACAATCAGCAGGGGCTACATCTCACTGACAATGGTCATTGCTCAGTGACCAGGGAGTATTTTTGACCATTCCACCACAACCACCTGCTTCATGAATGTATAGCTTTAGAGCCATGCAATGTCTACATCTTCAAAAAAAATGAAAAGTACAATTTTCTTGATCTTGACTGTTACTTTGAAGGGAAGAAAACTGAGGCCAGAATGAGTAAGGTTTTCTCAAGGTTTTGTGGAAAGTTGGAAGCAGGGTCAAGATGTAAACCTAGGTCTCTGACTCTTAGTTAAGAGTTATTCTGCACTCCACACAAGGTGTGCCAGTCACTGCCTCAGGCCTTGAGACACAGCATTGACCAAGAAAAAATTGAGACTTCTACCTTCAGAGAGCTTATACTCCAGCAGCAAATAAAGACATTAGTTACAAGCAGTCACGATCAGTGGTGAATCACATTATCATAGTTGAAATAAGTTGTGCCTTTTTGTCCTCCAACTTCCAGGTAGGAAAGAAAAAATTCCCCTGCGTTTATTCTTCTTATGGACATCTAGATAAAGTGTCCAGTTAGTGAAATACAATCCTAGTGACTCAAGTGCCAAGACAGACAAGGATTTTTAGGGCATTTAATTGATTGCTTAATTAATGCAGTTGCTTAGGAACCTATTATTTGTCACACACTGTATTAGGCATCAGGAATTCAAAGATAAGAAAGATAAGATCTCTACCTTAGAAGGAACAGAGCACAGTGAGTCACATAAGTGAATGGATACTAAGGATGCCATGTCATGAATGCTGTAGGAAGTAAAGGTTTTTAGAGAATGCTATGACAGCACAAATGAAAGATCAATCCAGAAGGTGAGGGCAGAGAGGACAAAGAAGACTTTGTGAGTTAGTGACATTCAGCTGGACATTGGAAGACATGAAATGGAGTATTGTGTGTGAGCCAGACTACACATCAGAACAAGAGCACAAACTGTGGCTGCATGAACATCATTCATGACTCTCAGTTTTGGTCTGCATTCTACTGTATTAAATCTAATTCTACATATTCCCCAAGCAAGCAACAGATACCAGAGGAATGACCTCTTCTCAAAGACCTACGCCATAGTCTAGCACAGTAGTTAGAGGAGTACACCCTGAAACCAGACATCCTGGGTTTCTAGCTTTGAGTTTTTTTAGTTTTGTGACTTAAAATTTTTGTTTCCTATTTTCCTCATCTTTAAAATGGGCACAGTAAAATAATAAGGTTTGTATTAAGGTTAAATGAATTGATGATATGAAGTACTTAGCTCCTAGCACATACTCAATACATGTTAGCTTTTATTGCTTGGAACCATGGTGAGAATTACTAGTCTTGAATGCTTTTGGCTCCTGTTCACAGAGGTATGTACTGCAATGTCTTCTTTCAGGTGCCTTAAACGAAAAAGCACTATTGTGGAGATCTTGGGGCTGTCAATCTATACTGTTGGGGAAATGGGATAAATTTTCCTTGTTTCTTAAAAACTGCATGCCTCTAGTTCCCTGGGATGGGGCCAGCAGGGATAGGAATGTGTTTTTCCTTTTCCACATTTCTAGTTGTGTTCACTGTTTTTACCAACATCTATTTACTCTGACTAAGATTTGTGGGCAGGTTGGAAAAGTCATCAGAGGGAAATCTGGTAAATGACAGGTGTCATATAGTACTTGTTAGCCCTGCTCAGTTTAAAGGCAGCATTGAGGCTCTCCTACATCCTTTCTTCCATCCCAACCCCTCCAAAATAAGTTTTTGTTTTGTTTAGTCTGTAGTATTCTTCTCACACATTTTACCATCTTCAGTCTATAGAAAGTAAGATGATTTCTTTCAGTCTATGAGAGCCCTGGATTCCTATTTGGCCACATAAACAGAAGTGTTGCTGTCCAAAGCCTGACTTGGGGCATGTCTTAGTCAGTTTTGGCTACTATAACAGAATACCATCAATTGGGTGACTTAAACAGGAAACATTTATTTCTCATGGTTCTGGAGACTGGGAAGTCCATGATGAATGTGCTAGTTGATTTGGTGTCTAGTGAGGGCTCTTGTCCTAGTTGGTAGAAGGATGCTTCTTTGCTGTGTCCTCACATGGCAGAGGGGGAGAGATCATCTTTCTCATGTCTCTTATAAGGTGTCATGGACTGAATGACTGTGTCTCCCCCAAATTCATATGTTGAAGCCCAATACTCAATGTGATGGTATTAGGAGGTGGGGCCTTTTGGAGGTAATTAGGTCACGAGGGTGGGGCTCTCATAAATGGGATTAGTGCCCTTATAAGGAGAGACAAGGAAGAGATAATCTCTATTTTTGCCATGTGAGGAAACAGCAAGAAGGCATTTATCTGTAAATCAGAAAGAAGCCTCCTACCAGGAACTAAATTGGTACCTTAATCTTGGACTTTCCAGCTTCCAGAACTAGAATTGTGAGAAATAAATTTCTTTTAAGTCACCCAGTCTATGGTACTATTATTATAGCAAATCAAAATGACTAAGACATAAGGGCATGTATCCCATTCATGAGGGCTCCATAATCATGACCTAATCACCTCTCAAAGGGCCCACTTTCAAATATGATCACACTGGGGATTAGAACTTTAACATGTGAAATTTGGAGGAACACAAACAGTCATCACAGGGCAGTTTTCCCGGACTGGCCTCTTCTACCTGGGAACCATACTCCTCACTCAGTTCCCTGTTTCATTCCCTTTCCTCAGAGCTCCTACTATTCTCCCTTCCATACTGTCCTCAATATTACCATCCAATATATACACCCAAGATTTCAACTGACCAAAAACATACATGTTATTAAATTATATTGACAATACCTACCTTACATAACATAATTTACATTCAATGAAGCTACATTTTACTTAATCATCAATTTTTGTTTCTCGTAAGCCCATTTTTAACAGAAGTAATACAAACACACTTTTTACCAACAATAGTTTCCAGACATGACAACTAGACCCCTGACAATACAACCTTGATAAGTTGCCAACTCCCCCACACCCTTGGTCTCTAGCCATTGTCTCTTCTCAGACAAACTTTAACACAACCATTAGCCTTGCTACAAATTAAATGCTTGGTCCTGGTCATTTGTGGAATTATTCCAAATAAATATATAATGTCAACGATTGAATTTTTACTCTTTCATAAGCATTTTAAGCTATCTTCATTAAAGAAAGATTGGTTGACTATGAAAATACTGACAGCTTAACACATCTGCATTTCATCAGTAATACAGAGACACAATATTCCTAAGAATATATTCTATCTGGAGAGATAACCTTGCTTTGTGCTTTAGCAAAAGGTGACTTGCTTCTTTTCCTTGAAATGGTGAGTGCTATCTCACAGAAAAATTGCAACTGTTCATACAAGATGAGTTTTGAAGAGGGAGCTTCTTTGAAATGGTGATGAATCACATAGCAGGTAGGAAAAATGATTAAAGGACTCAAAATAATTTTGAAACTCCTTAAACCTAGTAGTTCTCATAAGATGTTTGACACCACGTTTTGTTGGACAAATAAACAACTTCAGCATTCAATGTTGTTCTTCCATTTTTTAAAGATGACTTCGAACCTTTACCTTACTAACTTTTCCAAGTAGAGGATGAGACCCACTGTTGGCCTGTGAAGCCAGAGATCACACACACATGCAGACACACACACACACACACACACACATGCAAAGGGATATGGATACGTTTAAAAGAAAACCAGATGATGAACTCTAGCACATAAGCCACTGGATTCCTGAGGCTTGATTTCTCCTACTCATCTTATTCTTATGTCTTGAGAGTTCCATTTTCTGACTTTCAGATCTATTGCTTCATGAAGTCCCTGGCACAGGATTTTTCAGAAGCTCTCTGACTTTTGTGCCTCCCAGTTCTGACATAAAATTACAATCAAGGTACATGTTTAGGCAATGGATTCACCTTATGAATTTTAAGACACGTCTGGAGAACAAAGATGTACAATAGCCACATGTCGAGGGTATGTACTGAGGAAGGGAACTGCACACAGGACCAGAACATGCACCCCCTGTGCCTCTGGGCCCACTCTGGGTTTTACTTCTTGTCTAACATTAGACTAGTTGATTCATGCCTTCATTGTAGGTGATTTTGTTCAATAAGAGGAAAACATTCAGTGTCCTTCACTTCCAAGACCAGTTCCACCACAAAACAACTAGTGAGAACTTAACTTCTGAAAGTTGTTAAATATTGCAATGGGGTTGTCATTTATTGAGATGTGGTTAATTACATATACTTAGGTAGAGTCAGGAATTTTTTGATGAGTTTATAAACTTCATAAAGTATGGTTAGTTAACAGTTTGTTTTTATTTAATTCTCCCAATAAAAGTCCTTGCAACATGAAAAGGAAAAAAAAAGGCAGGAATTGTGTCACAAAATTTATGGATTTAGTCAAATTGAATCCTGAAGGCAATATATCTATATTAATATTTGACAGCACATTACTGAGAATTTCCAAAGTCTAAGGATATGAGCTGGGTTTATCCACCCCTCTTTAATTTTTACGACTCCTATGTCATTACTAGCTCACTGAAATATTAATTAATCAGAGACCAATATATTGTTATGGTTCATTGAATTTTCCAGTTAATTGCGGGTTAACTAGAAAATGGTTTGTGTTTCAAACTTTATTGAAATTCTTACTACAATGCCCGATTTTATGACATAATACAGAACCCTTTATTCATTATTCAACAAATAGTGGTTGAGGGCTTGCTGTCCTGTGAATCAGTACTGAACACTAGAGACACAGACCCAAGAGACTTGGCCACCCAGGAGTCAGGAAGGATGACTCACCATTGCAATGAGTGGGCCACAGAGTCTGGGCTATGTGACCTGCAGTTTATGCAAGGGCATCCCAGAGGAGAGGCGTCCACACGGCCCGAAAACTAAGGGAGGGTGAGACCCGCAGGAATGAAGGACCTTCCAGAGATAGGAAAATGCCATGTGTGAGGCATAATTGTATTCAGGGACCTATGAATAATTCAGCATGCATGGAGTATGGTAAGAATGGGAAATAGTGAAAGGTGAGAGTGGAAGGTTATGCTAAAGACCATGGACAAGGATCCTTGTCTTGTAAGCAAGGAAATAATATAATACATTGTGTATCTCAGAAAGGTCTCTTAGGCAGGCTTGTAGGGGGCTGATTAGGAAGGGAGAGGGGAAAAGCTAAAAGCAGGGAGATGAATTGGAAGAATGTGGTGGCAATTTGGGTAAATGTTATGAGGCTCTGTACTGGCTAGTGATAGAAAGGAAAGGTAAGATAGGAAAATACCTCTTTTAGATCAGTGATTTTCAGTGTGATCCCATGAACAGTAACATTAGCATCACCTGTGAACTTGTGAGACCTGCAAATTGGAGACCTACTGAATCAGATCTCCAGGGCTGGAGCCAAACACACTGATTTAACAAGCCTTCCAGGTGATTCTTATTCTAAAGTTTGTGAGCCACTGCAATACATTGATTTATAAGATTTTCTAACTCATTTGATGTTAGGAGAAGAACAGGATGAAGGACGCCACGTAGATGTCTTTAGTATCTGGTTAAATGTTTAGCAAATTGTACCATGGATGACTCAGGGTCTCAGAGTCATTGTTTGACACATTACTTAGGATTTTTATGGGAACAGGGATAATTTACAGATATATATATACATCCTACTATTGCTTCTCAAATGAACCCCAACAGCTTTTGTCTGCAGTATTGTACTAATGACCTCTCCATGCTGAATCCAACAGTTATTTCTAAATGGCCAAATGTGCTTTTTAAAAATGTCTATTTATTTTCAGGACTTCTATATCAGTGACACAGATAGCTCAGTCAAATTAAGATAGTTCAAGGAGAGTCTATTTACAAAGAGACAACTTACCAAGGCGCAAGTGTGGCGTAGAGGAAGAACAGGTGATAGGGCAGGAATTTGGGGCCATCAGGAATAGAACTTTCACCACCTTTGAAAAGATGAGGGCAGGAAAAAAATTCCTCTGAAATTCCAGAGGAAACAGAGTCATACACTGCAGGACAACTGGGGAGGAGCAGTGGCTTTCTGGTCACAACCAGGCTGAGGCAATTGTACAGGGAAGGAATCGTGAATACATTCCCTAACCTAATAGTTCTCAAAATGTTGCCTCCAGACCAGCAACATCACCTGAGACCTTGTTAGAAATGCAAATCCACAAGTCTTATCCAATAATTAGATAAGAATCAGAAACTGGGGGTGGGGCTTAGTACTTTAACAACCCTTGCAGGTGATTTTAAAGAGCCACTGATTTAATCTCATTCCTTTCTTTCTAATCTTCTATTGGGGCTCCTTCCCACTGGCCAAACCCAAGCAGACAATGGACGGAATGGAAATCAGTTTCATTAAGATCAGCCTTCTTGGAGACAGCCAGGTGGAAAACGCTGAAGAAAGCACCTGGCCAGGCAAATGCATGACACTTTAGCACAACCTCACATAAATCAGTTTTCTGCAACCTCACTGGCTGCTCCTGCTGGTTTCTTGCTATTCTCCGACCTTCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCTGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAGCCTCCGCCTCCTAGGTTCAAGGTCTCTGACCTCTTAATGAAAGATGCCCCAGGGCTCAATCTTTGAGCCTCTTTTCTGTCTACTCTCACTCCCTTTGTGATTTCCTCCAATCGCTTGGCTTTAAATGCAATCTCTTATATACCAACAAACTTTCAAATCACATCTCCATACCCTGGACTGGTAAATCCAACTGTTGACTTGACTTTTCTACACACATGGTTAATAGGCACCTCTAACTTACCACGTCCAAAATTAAGCTCCAGATCTCCCCCTATAGCCAAACCTTGTCCTGCCACAATAGTCTCCATTTTAATTAAAGGCAACTCTATCAAACTTCTCTCAACCCCAAAACCTTAGAGTCATCTTTGATTCCATCCTGTCTCTCCCATCCTGCCTATCCGTAAACAAAATTTGGCAGTTCTATTTTTAAAAATATGTCTAGGATTTGGTCACTTGTTACCTTCCCTGCTGCTACTACAGTGTTCCCAGCCACTATCATCTCTTGACAGCATTACTGTTGCAATAACCACCTTCCAGTTTGTCTCCTAGCCTCTGCCCCTACCCACTTCAGTCTATTCTCAACATAGCCAAAGTCGTTTACATATGAGACAAATCATGTCATTCCTTACCTCAAAATCATATGGAGATTTCATGTATCAGTCAAACAACATTATGCTGCAGTATCAAAAATAGAAACAACGTTAGCTAACACCACAGATTTTTTCTTTCTTTCTCAGGCAATATGTTTAGTGTGGGTAATGAAGGGCTCTGCTAAACACAGTCACTCAGCGAACTAGGGTAGTAGAGGCTCTGCCTTGACATGTACTTCCATCCTCTCTGTAATAGGGAGAAGGGGACTAGGCAATATGCAGTGACTCTTAAAGATTTTACTCCCACCCAGACTTGACACATCTCACTTCCACTCTCATTTTAATGGCTAAAGTGAGGTACCGTGCTGTGCAACAAACCACCACAAAATATCAGTGCATGCAACAATAAGCATTTGTTTGTCATGCCTCTCCAGGCTGGCTGGGGGTCAAGTGATTTAGACTGGGCTAGACTAGGTGGTCTGCTTGAAGCTGCATGTCCTCTGGGGCAGCTCTGCTCACCATGTTTCTCATCTTTCTCCTAGATTCAACAAGCTAGCCAAGACATGTTTTTTTGGGGGTGGTGGCAGAAATTCAAGAGAGAAAGCCCCACTGGGCAAGCATATCTCAAACCCTTGCATGCATCATGTGTACTTATATCCTGTTGTCCAAAGCAAGCCCCATGGCCAAAACTACAACCAAGAGTCAGAGAACTATATTCTGTCTATAGTGAGGCCAGGCAAGGGTGTGAAAGCAAAGAAAGGGTGGAAGAATTGGAGCACTAACCCAGTCTCTCACACATAGTCACACCTAACTTTAAGGGTGCAGGAAAATATAATCCTCTATATGCATGGAAGGACAACTGAAAATATTTGTTGACCACCCCTTGAAATCTTTTGTGGTGAAAAATCAAAGTCCTTACAATGGCCTAAAAGTTTCAATAAAATATGTCTCCCATTAACTGCCTAACTTTATCTCCTACCATTCAATCTAGCTCACATCATTCCAGCCCTTTACCAAGCAAGCTTCTACCTCAGGGCTTTTGCACTTACTGCTCCCTCTGCTTGGAACACTCTCTCTTTTTTTAAATAAAGATATTTGCATGACTTTCACCTTATGTCTTTTGGGGCTTTTATTTTAGATGACCACCTTACAAAAATTGAATTATCCTCCTCTACTGATCCCCTTTCCCTGCTTTTATTTATCCATATCCTAAAAATATTTCCTTCTCACATACTATAGACATTTTACTTACTTGTATGCCTTCTGTCACTATAAGCTACACAAAGACTGGAATTCTGTTGTGTTTTGTTCACTATCCACAGCACCTATAATTGTGCCTGGCACATAGAGGAGTAGGCATTTAGTAACATTTTCGTTGAATAAATGAATACCCTGAAAATTGGTATTTTTCTCATCGGAAACAGTTATTGCCTTTATATTTTGAAAGTTGATTCTGATGCCTTCTAAATCCAATTCAGCCTATTCGGACTGGCTGGTCCCTCCACATTAACCTAGAACTTCTCATTTGGCAAAGGCACCTTTCTGGAATGAATGAGGAGATCTCAGAAAAAGACAGAATTTTATTGCTTTCACCATCCTCTAAAGTCAGTGGTTCTCACATAGGTACGAATTTTTCTCCCCAGGGGATATTTGGCAATGTAGGGAGACATTTTTTGATTGTCACTAATGAGGGGGAAAGAGTGCTACTGGCATCTAGTAAGTGAAGGCCAAGGATGCTGCTAAACATCCTGTAATGCACAGGACAGCCCCACAACAAAGACTTTTCCAGTCCAAAATGTCAACAGCTCTGAGCTTGAGAAATCTGTTCTAAGGGGAGTGCAGAGGTTCTGGTCTTGGCGGCTCTGAAAGTTGTTTCAGATAAATGTTTTATTACTATCAGTGTTACACTATAAGTACTACACAGGCAAGAAGTGAGATGGGTTTATTCATTGGTGTGTGCTGAGCACCTTGTACAGTGCCTGAAACATAATGGGGTCTCAAAAATAATTGTTGAATGCATTAATGAACAGAGATGTCCTATTAAAACACTAAATATTATGTTGCATTATGCTGATTATTAAGCCTTGCTTCACTTCCTTTACTCTATTTTAAGATCTGATTTAGACCTATAATAGTCACGGCCCTGTGGCTTTCAGTCTGTTTTTAATTTCTACGAGAACAGAGAGGAAAATCATATGAGTCTCAGTCTTGTGCAAAGGCTCATATATTCCACTAAAATGTCTGCAGGAGAAAAAAATGTTTCCTCCTATGGATAAAACAGGAAATGAGTTTGGTTCTTGTAGAAACTAATGTGGTGAACTTGAGGTATTGGAATTTAGAGAATTATTTTTAGTTTGTTTTTGAATCCATTTTGGGGTAAATAGTTGACCAAAATATTTCCTTTTTTTGTTTGTTTCTTCTTCTTTTTTTTTTTTAACTAATATACTTGCTGATTTCGTCTGGACTTTTTTTCATTGCAGGCTTTGGATGAGTGCAAGCTGTATTTCTCAGCAAAGCTAATTTGTTTACCGTTCCTTGTCAGGGTTTTCTGTAACTGTCAAGTGTCTTCATTTAGCCATGTTTGTACATGTGTGTATATAGGGACAGGCAAATTGTAACATAAGCCTTCAGTTTTTATTTATGTAATGAACAAGATTATATTTAGTGTTCAGATAAGGTTTAAATGGGGGTTTCAGTTAATACCCAAAGTTATTTATTCCTATGTGTCAAGGGCAATCTTTCCCAGGAGACCCAGAAATTAACTCTTTTTTTTTTTCTTTAAGAAAAAACCCAACCCTAGAACCTAGGATTTAGTAAAACACAGTGAAAGTCTGAAGAAAACTATGGATTCTCCTGTTCCTCAACTCTTTTCCTATCACTGTCTTCCCAATTAGCAAAAGACTCCAACAATCAATCACCTAGGAGTCTGGCCCAGATCCATGGAGACGTTCCTGATTCCTCTCTTTCCCTCACACTCCACATTTAAAGCTTTGCTTTTCAAATATGTTCTGAAACTACCTGCTTCTCACTTCCTCCACTGCTGACTCTCAGATGAACCCTGCTCTCCCTCCTGAGCCTATAAATGGTGTCTCAGCTTTTACTCTTGCTCTCCTGCAGGCCATTCTCTACACCAGGGATCTTGTACCAACTTGTCATATGACTTATTTTCCCTGCTCAAAACTCTCTAAGGACTTACTGACACATTTAGAATCCAAACTCCTTACCATGACTGCTAAGATCCCATATGAACTGGCACTGCCTAATTCTTTCACTTTTTGTCTTTCACTGAGTTCCTTGCCCCTTCCACCCTAGCCGTCTTGCTGTTCCTCACACTATCCGAAGCTTGTTTCGAATTCGGGGCCTTTGCACTTGCTGTTCCTTTTGCCTGGAGTGCTCTTCTTCAAGATATTTCTGCCTATAGTTTCCTCACTTCCTTTAGGTCTCAGCAAAAATGTTGCCTCCTCAGAGAGGCCTTCTGTCACCTATTACCATAGCATGGTCTAGATGCTCTCAGGAGACCCCAAAACCTGTGAAACTAACTTGTGCTTGCAGCTGTGCTTGCTTACAGATAAGAAAGCAGAATGCCAGAAACTGCGAGTTAGCCACAAGACCAACTAAGTGCAGAAGTGCTGCCTTGACTTGAACTCTTGCATAGGTGCACTGAACTCATTTCTTGCTTCATTACCATACTAAAATCTCCACCCAGCAGGGAGAAATGTACCTTGTTAGGCACAAAAGGTGCTGGGTGCAAACAAAAAGACATGACTGCACACACTCTTTTCCCTCCTGGAAGAGCCCACGTTTTTCCAGGAATCCCTGCCCCAGTCTCCACCTACCTGTCCTGGGAGCCCTTTAAATCTCCCTCTACTTGACTTCCAGGGAGATGGTGCTTTGAGCACGAGCTCCCCTCCCCTTCATCATTCTTTGATCACGAGTAAAGTTTCTGTTCTGCTTTACTTAACCTGGTCTGGTTCTATTGGCACAAATGACACTGGGCAGGGAAAGAACCCATTAGGATCCAATAACCTCCTGGGAGGGTCAGTAACACTTCCTTTGCTCTTCTAACTTGCTTTGTTTCTCTTACCGCCCTTATCATTATATGAAATTATATATGTGTTTATTTCCTGTGTCTATCTTGATGCAAATTTTATGAAGGCAAAAACATCGTGCTGTTCATTATCTTGTTCTTTGTCCCTAGTGCCTAGAATTATGCTTACAACGTAGTAGATGCCCAATTTCTGTCAATTAAATGAATAAAGCTTGACCAGAATGTTCAATGATGACCTCAGGGTCCATGCTTGGAACTGCCCTGTAGATGAGAAGGCTTCTTAGAGCAAATTCTTTAGTTCTGCCTCCTATGCAATGGCTTACACAGATGGTATTATAATATGATTAAGGATGTGGGTTACAGAGGAGTTATCTGGAGTTTACTACCTATTGACTTACTTTGGAGAAATCTCTGTCTTCATTTTTTTATACTTATGAAGCACAATAAATATCATTACATTGTTTCTAATAAAAAGCTTTACTATCCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCTTCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCATGGTGGCCTGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGCAAGGTGGAGCTTGCAGTGAGCCAAGATCGCACAACTGAACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGCTTTAGTATATATTAATGTATTTCATTTTCATAAAAGTCATGTATTAGAGGGTTATTATGAAAATTAAATATATGTGAGCTTCAGAAAAATTCCTGGCACATTGTAAAATGGGCACTACTATTACAGTCCATTTCCATTATTCACACCTTCTGTATTTGCATATTTACCTACTCAAAATTTATGTGTATCCCCCAAATCCATGTGCGTGGTTTCTCGTAGTCATTTGAAGACATGAGCTGATATGGTTTGGCTCTGTGTCCCCACCAAAACCTCATCTTGTAGCTCCCATAATTCCCACGTGTTGAGGGAGGGACCTGGTGGGAGATGACTGATTCATGGGGCAGGTCCTTCCTGTGCTGTTCTAGTGATAGTTAATGGGTCTCATGAGATATGATGGTTTTAAAATCGGGAGTTTCCCTGCACAAACTCTCTTTGCCTGCTGCCATCCACATAAGATGTGACTTGCTCCTCCATGCCTTCCTCCATGATTGTGAGGCCTCCCCAGCCACGTGGAATTGTAAATCCAATACACCTCTTTCTTTTGTAAATTGCCCAGTCTCAGGTATGTCTTTATCAGCAGCATGAGTAAAATTGAGTTACTCATGTTCCCAGCTGAGGAAGGACAAGGTGACACTGCCTTCTTGTTTCAGCTCTCATACTGTAAACGAGTGTCCTTTTCACAGTTGATTTACTGCCATGTTTTTAACACTTTTGTGCTTTTTGTTGAAGATTTTGCCATTTAAAATGGCTCCCAAGCATAGTTCTGAAGTGCTCTTTGGTGTTCCTAAATGCAATAAGGCTGTGAAGTACCTTATGGAAAAAAATATGTGTTAGGTAAGCTTGGTTCAGGCATGGGTTATAATGCTGTTGGCCATGAGTTCAATTTTAATGAATCAACAATATATATTAAATAAAGAATTCTTAACCAGAAGCACACAATAACCAAGTAGACTGGTGGACCGTCTGAAAGTTGATGAAAATGTGACCAGAGGCTTGCACAACCCTAAGCCAGGATTTCTCTGAGCAGCAGTGAAAACAGTATTTGCTAATTCAGTGAATCTGGCAACTTCATAGAACACAAGTGCCACAGACAACAATAATTTAATGTACAGTTGTCCCTTGATATCCACAGGGGATTCGTTTCAGGACCCCTGAGGATACCAAAATCTGGGGATGCTCAAGTCCCTTATCTAAAATGGCGCAGTGTTTACTATAACCTATGCACATCCTCCCATACGATTTAAATCATCTCTGGATTACTTATAACACCTAGCACAATATAAATACCATGTAAATAGTTGTTATACTGTGCTGTTTTAATTATTATTTAATTAAATTAATTAATTATTTTATTTATTTTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGTAGTGCAGTGGAGCAATCTTGCTCACTGCAGCCTCTGCTTCCTGGTTCAAGAGATTCTCGTGCCTCGCCCTCCTGAGTAGCAGGGGCTACAGGAGTGCACCACCATGCCTAATTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAAGTGATCCGCCTGCCTTGGCCTCCCAAATTGTTGGGATTACAGGTGTGAGCCACTGAACTTGGCCAGTTTTTATTATTTTTATAGTTGTATTATATTTTTCATGTTTCCAAATATCTTTCATCTGCTGTTGGTTGAATCTATAGATGTGGAACCTGTGGATATAAAGGGCTAACTGCAGTTCTCTTTTCACTCACCTATCAACTCCTTGAGATAGTGGTTTTCACTCAGCATTTTCATGTAATCACAATTCCTCCCTCCAAATATCTTATCATCTGACTCACATTTCCACCATATGACATTCTCAGAGAACCAGAGACGGGTTTGGCCAGACATCAGAACTAATGAGAAGGAGGGACTCCCTCAGGACTTTCTGTGTGTTTGTGTCTTTCTTCCTTCTTTTCCTTTATAGTTTAACTTTCTCTAGATATTTAGTCTACATGGCAGAGAGTATGGCTGCCAATAGCCATTGATTTTCACATCCTACCATCCAAATAACCAAGGAGACTGTCTGAATCTCTCCTCAGGCCCATACATCCTGAGAAAGCTTGAGTCAGGTGCCCCTGGCTGTGACTAGAACGTGTGTGTGGTACTGTGAAGTGTGTAGTATTCTGGCTACAACTCTGGGTGATAATTAAATCTACAACTGCATAGCCTAATACAGTAGCCACTTGTCACATGTGGCAATTTATATTTAAATATTAAGTAAAATTAAATAAAATTTAAAAATCTTCAGCCACACTGGTCATGCTTCCAGTGCTCAGCAGCCAAGTGTGGCTATTAGCTGCTCTCTTAGAACAGATATAGAACATCTCCATCATCGCAAGAAGTTCTATTGGACAATACTGCTATAGATGAAGAGGAATCTCTCAGAAAAGAGATTAGGGTTAGAAAGGAGTATTTCTTACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAAGATTATAAATCATGCTGCTATAAAGACACATCCACATGTATGTCTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCTGAATGTCCAACAATGATGGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTATCGCAAGGACAAAACATCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAGTGAGAACACATGGACACAGGAAGGGGAACATCACACACTGGGGCCTGTTGTGGGGTGGGGGAAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACGTATGTAACAAACCTGCACGTTGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAATAAAAATAAAAGAAAGGAGTATTTCTGAGCAGATAAATCTGTAGGTGTTTCTCATACCTTCTCTGCCATAGTCGATAAAACTGACCCAGACTCTTTGCAACAATTTCTTCCTCTGGCACTTAGAACATTTTTATATTCTCACAATTGCCCTGTGATTCTTCCCCTTTCAGTTTTCACCCTCCCCTAAGTATCTGGACTGTTCCTGTGTTTTGTAATACCACTGTATATTGCTGACTTCTAAATTTACATCTGTCTCAGACCCTTCTTCTTAGCTCCAGACCCACAGACCTAACTGCCTACTTAATATCTCCAATTGGATATATCAAATGTCACTTGGAATTAATACCTCACACTGAATTCTTAATCTATCCTAAATCTCCTTCTCTTTGCATGTCCCCCATCTCAATAAATGGCACCTCTATCTGCACAGTTTGTTATGCCAGAAGCCTTGGAAAAATCCTTGCTATCTTCTATCTTCTTTTGCCTCAGTCTAATATATCCCCAACTCTGATAAATTAAAGATTCAAACTATTTCTTTAATATAGCTAGATTTTTTTTCATTTTTATTGCTACCATTTAATGTCACACTCTCCTTTCACTTTGCTTCTAACATTTATTCAACTTTCTGTTCCTGCTCTAATGTCATCTTCTCACAGAACCCTTCCTTGTCCTCTGATCTGGATTCCACCTTTTACTGTCATCACACATTATGCTTTTGCTTTTCACAAATGTATTGGGTTACATATGTAATTATTTGTTTAGTGTCTAGTCTTCTCTAGCCTCATGTAATGTCTTCTCTAGCTTGATAAAGGCAGGAAATACGTTTGTTTTATTTTCCTGTGAATCTGCTGTATTTAGCACAGGGCTGGACCTTTAGCCCTCAGTCAGTACTTAATACCTTTTCAGAACACATTTTTATGAGCTTTAGAAACTAGTCTTCTTCCCTCTTAATGGTTATGGAGGTCTTTCAGGTTCTGTGTATCTTCTTATGGTTTCAGCTTTGACCCTGAGAATGACTCCCTTTCAATGTTACAAGACCTGGCTCCTCTTCTTGGAGACATGCTTGCAAAATTCACCCCTCCTTCCTGCCTCCCTGGTTTTCCCACAAGAATTCTCTTGAACTCACATGACTTCTTCCTACAGGAGATCTCCAAGCCTGCACCTCCAGCCCATCCAACCACAAAGAACTTTGAAACCTCTTAACCTGTCTTGTCATCTTAGTTCATGCAAATAGCAACCCCTAGAGATTTGTAGTGCACAGCCTGAACAACCACAGGGGCAAACTTCCCTTCCTGTCTCTGAAGTCTCGCTTTATCCTTATTGTCTCACCCCTAGAACTTCAAGGAGCCTCATAACTCATAGCCCAATCCCTACTCTTTCTGTAGACCCATTTTCGAAAATGCAGAATTGCAGAATTGTTCTGCCGGAAGACACCTCCAGAACATCTTACATATCTGAGTGTGTAAATGAGGAAACATAGGTTTAGAAAGTGGCAGGCTAGTCACTACAACCAAGACCTTCTAACTTTCTGTCTGGTGCTCTATGACACATACAGCCCCCACTGTGCTCAGAGGTCCTCATGGAGCTTCCTTTACTAAATGTAAAAGACTAAATTCATTTGCCTACAGTTTCCTTTTCTTTCCTTTCGATCACTTTATATTTTCTGAACTGCCCACACTTACCTTATGCATTTTTGCTGGGAGACCTTTGTTCTTCCTGTTGATCTTACCTAGAATATCTTTCTCTAGTTTTATCCTCTGTTGTGAATCTTGTGTTTCAAGCCTCAAAGCATGTCTGATACATAGCGGGCTTTAATGTATTTGCTGTTGAATGAATGAATGAAACATGTAATTTAGTCAATTTTCCCCATATTGACTGTGGCTAAATTTCTATTGACAGAAGTCAACAAATATCTACCACCATATCCTGAAGTTTGCACCAAAGTGGACAGTACTGAAAAATATGCACCTGATGTGTTTGACTCTCAAAAAGCAGTGATTTCTTAAAGCAGTTGGGAATTTTACCCTATTAATTGCTCACTTGGGTAACCATGCAGTTGATCTCCTCGACTGATCTATCTCCTGTCTTTCCCAAAGCAGATATTGATCCTGATTTTCTCTGATTTGAAGACTGACAAGTAGAGGCAGGTGAGAAAGGAAGCCTGTGGGAGACACAGGGAGAAAGGAAAGTCTAGAAAGACACTAGAAGGCCTGAAGAGGAGAAATTTATACTATGACCTCAACCAGAAACAGGTTAGAGACCTTAGTTCTTAAAAGGGAACTTGTATTGTAGGTATTATTTAAAATGTAAATTGAATCCAAGAATGATTTTAACATTTGGTTTCTGGTCACTAAACCTGGCAATAAGTATAAACAGTTTAAAATAATCACAAAGTCAAATGATTTTGCTAGAAAATGAAGATTTCTTGGTCCACAGCTTGTTGCACTGAGTATATTAACCTATGTTAAGAAGTTAGCTCCACTCTCTTTTAATGTAGTCTGCTAAATAATTTTTAGACATCTCTATAGAAATGAAATTTATTCAAAAAAAGGACACAAATTAGTTTGCAAAATTCAGAAATATAACTGGAAAAGCAAGCATAAAGTCTTACATTAAGTGGTTAGTTGCTTATCCCTTGTTGATGCCTATTTTATTTGAGAGATATCCCAGTTGTGCTATGCTAAGTTTTGAAGGTCTGTGTAGTCTTTAACTTGATCTTTAAAAACAACAGAATTTGAGTGAATGTCAATAAAACCAGTGAATTATAAATATTCTGTCTTCTAGCATGTTTGACTAGGGCTGCCAATAAACAAAATTATATTTCCTAGGACTTCAGGCATGAATACTAATCTATTGAATTTTAATTTAATATTCTATGAGGAACCTAGGAGAGTATCAACAATTTAGACATCTGTTGAGTTATTCTCAGAATAAAACTGGACATGTGAACATTTCAGGAAATGAAATAAAATTCTTAATGTCTTTGTATTAAAATGCAACATATATACATACATATATACACATATATTCACATATATATACATATATATATTACTATTATGACTTTTTACCTAAAAACCCCAGTTACTTGAATTAGCTATTAGGCACAGAATTATTCGACCCTGTCCCCATCCCTCTCCCATGCTCACACACTAGCTAGTATTTCTGATGGTAAAATTAATTCTTGCCACAGAATACAGGTCTTTACTCCCATTCCCCAAATGACCTAAAACCACTAAAATGGCAGAGTTTCATTCAACACTGCAGCTGCTATTTTGTCTCCAGCAGGATGATATAAAGATTAGGCTATAATCAAAAGCAAAAATTCTTGCATGTGCATTGCAGCTAGAAGAGCTCTCTTTATGCTATGTGCCTCTTCACAAATTACAAAGCAAATGATATAGGAGTGTAGCTCCTAAACTGGTCTGTCTGAACTGATAACACTGAATCACTAGTTGGCTGGGGTGTCCACCCAGATGGGAAAAGGAGGTGGATAAAAGGGAAATGAGGTTGTAATGTTGTTGACTTCAGGCCTCAAGGAAGAGACAGCTGTGGATTTTCTTAGGTGAGGAACAATGTCAGAGGAGAACATAATTCATTATAAGACTCATGGGGAAACAGTCAAATGAAGAAGCAACAAAGCAGCAACAAAACCAAACCCAAGTCTTGCCCCACTGTGCAGCTGCAGGACAAAGACAGAACAGAAGCCTGTAATTGGGGAACAAAGTGTTGTTCTTTCGGGCATTATAAAATGAAGCCTTCAGAAATCACTCAATCTTGTCATTCCAAACAGTTTGATGCATTTGTGAAAAAAAGTTTTCCTTTTTTTTTTTTTTGAAAGGAGTCTTGTTCTGCAGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTTACTGCAACCTCTGCCTCCCGGTTCAAGTGATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTAAAGGCGCCCACCACCACACCTGGCTCATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGACCAGGATGGTCTCGATCTCCGTGTGATCCACCCCCTCGGCCTCCCCAAGTGCTAGGATTACAGGCTTGAGCCCCCGCGTCCAGCTGGAAGTTTTCTTTTCTTTTTTTTTTTCTTTTTTAGCAGTGTACACCTTTTAAAACTGCAATTGAGTACTAAATAATGGAGTAGTTTTGTTCAAAAGCAATATTTATTTTTCATGAAGATAAGAGGCATATTACATTCGCTATAGAAAATGCTATGAGAGGAAAAAGCTGCATGTTACCGATATGACAAAAAACATAAAAAACTCTACTTATGAAAGTGTTTTGCCCTATAAGAACATATTCAATAAAAGGCATTATTCCAGGTGAATGAGCCATGCGGAAATGTGGATTTATTAGGGTTTGTTTTGAAATGTAATTTGTACGGCCAGCTTTTTATTCCTTTGATGGCTATCAAATAGATTTATTGGCTACATGTTAGAAGTGCAAAAGATAACAGGTAACCAAGGGAGAAGTTTTAATAAAACTCTCAGGAAAGGCAAAGAAAAGTGAGTGAATATGCCTGCTTACATTTCAGCTAATAAATAAAAAGTGCAGATAGGGCTTTAACTGAAAACCTTGCTGGTTATTGCAGCCTGGAAGGTTTATTGAAAACTGGGTAGAACACTCTCATTTTTTATATTTACAGCTACATTGTGAGCTGTTCAGGTTAGAGTGATGTAACGTTCATTTTGACTTTGGTACAGGAAACTGATGTTTTCACAGGAAACTTGCAAAGCAGTTATGAAGAGGAAGAGCGTTCTTAATTATTAGTGTCTGCCTGAGCTATTTCTGATTGTGTTCTGGGATTTTAGAGAATTGAACAATAGAGTATTTAATTTTACCACTCCCCTCTTGAGTAAAAACATCAGACACTTTTAGGAAAGTTTTAGAAGGTACATCTTCAATAAGCAGAGATCTTTCATCTCAAATAACTGGGAAGAATTGCACTGCTTAAGAATAGTTGAACTTGGACCTGAGAGCACCATACTTAGAAATCTAAGTATATTTAGGTCACTCATCTAACACTGGGACTTTACCAGCCCTGTCACCCAAACTGGTTGTAGTTAGTAGGACCACAAAGTCACTGAAGAAATCTGCTTTCCTTTTAACTTTCAAGGCAATAAGAAAAATGTAGTTCTCTGTTAGCAGTCCCTGAGCTATCTGAATTTCGGTGTTTCTCTCTTAAGCCTCTTGCTTTGGAGGATGATGAATCATTTCCTACTCCTGGAGTTAGTCTCCTTTAAAACAGACACAAAGGAGGCAGAGAGAAAAAATTACTCTAAATACCATTAACCAATGTAAAACAGTTTTCTATTAAACAGTAGGACAGCAGGGCCAAACTTGTGTTACCACAATTGACAACTGGCTTCTTAAAGCAAGCTCCATAGATTAAGAACCATAGCCTCTAGGACTGATTTTACTTGGTTCAGAAACAGGAAATCAGAACAGTGAGCAAGTATACGATTAGAAATTTACATTAATAAAATGTGATTTTTTTGATACACAAAAGCTTTTAGGTTGTAAATAATCTATGATGGCCTGCCAAATATAAAATGCCATTATAAATCCATGTCTATATTTCAAAAAGACGGGAACACAAAAGCAAGATACATTAAATTAATTGGTGTAGTTTGGAGAGTTCGAATCCATTATTAGATATGGATCCTATCAAATATCCCACCTAATTTCCAGTTACGTCGATGTTTCAATGTTCACTTTTTAAGTTCTCAACTACCCACATCTTTCACTGAACACCATCTGGAAAGGTTCATACAGAATGCCCATGCCATTCTTGAAAGGATTTGCTTTTGTGGAGGGGTTTTGCAAAGAAAAACAATTCAAAATTCTGTTACAGCTTATACATTGTCTTTTGTAGGACTATAATAAAAAACCTTCTAAGTAAGTTTTTGAGATAGGTGTTAAATGAATAAGCATGCCTCAGCAAAATGCATAAAAAACACAATGATTTAATTTCTAAAGCACTTATATTATTATGGCATGGTTTTGGAGACAGGTTATTATAGTCCACATAGGTAAGTATGCAGTGCTTCTCATGGAAAAAATGCTTAGGTATTGGCCTTTTCTCTGGAAACCATATTTTTCCTTTTTTAATAATCAACTAAGATGTATATGTAAGAAAGCCTCATCTTTTGATTTTTAATATACAAGATGCTTTCTTTAAGAGAGCAAGATTCAAAATTGTTTTGTGTTTCAAAATTTAAAAATAAATTTATCTCCTAAATTTTCTAAAGACATGTTTCATATATTTGACCATCCCTTATTTTGGCAAAGGATTTTAAGAGTCTAACTCAAACATATGTAAGCTCTGGTGTACCTGGTTATATATACCAAAAAAAACATTTGATCTATATACACATAGACATGAATATATTTCTGTGTGTGTTTGTGCATATATAACCTCAAACACTATTATTAAATGCAATCCTATATTCTTAGGTATAGAAGTTGATGATATACCTTTCTACTTGCCATGGCATTAACAAAGCAAGGCTGAGACTCAGCAACCACTTGTGTTCATTGCATTGCAGGCTAGTAGTAAGTTTGGTTGCTGGTAGGAAAAGGGTCTCTTATCTCACCCTCCTTAAACTAAAGGTTCTTTCAGGCTTAATGTAAGGATGTGCACATTCTCTTATCGAGGTGGTCTTGAGCTGCAGATACAATCACATCGTTCATGGTGATCCAACTGGATGTCAACTAGAGCCATGGTCTTAGCTCTACCCCTCCTCTTGATGTGGCCAGGCTCAAACTGTAATACCTAGGACAAGAAGCACATCTCCTGTTAGAAAGCCTTTGGAGTTCAACTCAGTCAGATGCCACCTACTTATTACCTTTTTGACAACTAGTTCTTAGCCCTTTGAGAACCCAACAGAAGCTATGGGCTTGCTATTAGAATGCACACGTTGCTATTAGAATGTACACATTTTTCAAATAATTGACTCCCTGAAGTGGAGGAATCAATTGATCCCAGAGTAATGCCCAGCATAACTTACCTGAAGTACCCAGATGATTTCATGTGTCTTAGCAGGTATTTATTAATAGCTTTCTAAGGGCCTGCTTTGGGCCAAGTACTGTTCCAAATATTATCGTAAAGATCCTTCTGACCAAGGCATGTGTTATAGATGAATACAATACTTGAGCATATTATTAGCATGGAGAGGAAAATGAATACAACCATGAATAAAATATGCTGGTATATCTAAATCTTTGGTTGAAGTAAAACATGTTGCCCTGGAGTTGCTGGCAAGATGGCCGAACAGGAACAGCTCTGGTCTGCAGTTCCCAGCGAGATCAATGCAGAAGGCGGGTGATTTCTCCATTCCCAACTGAGGTACCCAGTTCATCTCACTGGGACTGGTTAGACATTGGGTGCAGCCCACGGAAGGTGAGCTGAAGCAGGGTGGGGTGTCCCCTCAGCCGCGAAGTGCAAGGGGGTGGGGGATCTCCTTCCCCCAGCCAAGGGAAGCCATGAGAGACTGTACCAGGAGGAATGGTGCACTCTAGTCCAGATACTGCACTTTTCCCATAGTCTTTGCAACTGGCAGACCAGGAGATTTCCCCCAGTGCCTATGCCACCAGGGCCCTGGGTTTCAAGCACAAAACTGGGCGGCCATTTGGACAGACACCGAGCTAGCCGCAGCAGTTTATTTTTCATACCCCAGTGGCGCCTGGAATGCCAGCAAGACAGAACCATTCACTCCAGGGATCCAAGTGGTCTGGCTCAGTGGGTCCCACCCCCATGGAGCCCAGCTAGCTAAGATCCACTGGCTTGAAATTCTCCTGCCAGCACAGCAGTCTGAGATTGACCTGGGATGCTTGAGCTTGGTGAGGGGAGGGGCGTCTGCCATTGCTGAGGCTTGAGTAGGCGAGGCGGTTTTACCCTCAAAGTGTAAACAAAGCTACTGGGAAGTTTGAATGGGGCGGAGCCCACCGCAGCTCAGCAAGGCCGCTGTGGCCAAACTGCCTCTCTAGATTCCTCCTTTTTGGGCAGGTCATCTCTGAAAGAAAGGCAGCAGCCCCAGTCAGGGACTTATAGATAAAACCCCCATCTCCCTGGGACAGAGAACCTGGGGGAAGGGGTGGCTGTGGGTGCAGCTTCTCAGACTTAAACATTCCTGCCTGGAGGCTCTGAAGAGAGCAGCGGATCTCCCAGCACAGCATTTGAGCTCTGATAAGGGACAGGCTGCCTCCTCAAGTGGGTCCCTGACCCCCATGTATCCTGACTGGGAGACATCTCCCATTAGGGGCCAATAGACATTTCATACAGGAGACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGCAGCAGAGCGGCCTGACTGTTAGAAGGAAAAGTAACAAACAGAAAGGAATAGTATCAACATTAACAAAAAGGACATCCACTCAGAGACCCCATCTGAAGGTCAACAACATCAAAGACCAAAGGTAAATAAAACCAAAAAGATGGGGAAAAACCAGTGCAGAAACACTGAAAATTCCAAAAACCAGAACTCCTCTTCTCAACCAAAGGATCACAACTCCTCGCCAGCAAGGGAACAAAACCAGATGGAGAATGAGTTTGAGGAATTGACAGAAGTAGGCTTCAGAAGGTGGGTAATAACAAACTCCTCCGAGCTAAAGGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTTGAAAAAAGGTTAGATGAATTGCTAACTAGAATAATCAGTGTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAACGCAAGACAAGAACTTCATGAAGCATACACAAGCTTCAATAGCCAAATCGATCAAGCAGAAGAAAGGATATCAGTGATTGAAGATCAAATTAATAAAAGAAAGTGAGAAGACAAGATTACAGAAAAAAGAGTGAAAAGAAACAAACAAAGCCTCCAAGAATTATGGGACTATGTGAAAAGACCAAATCTACATTTGATTGGTGTCCCCCAAAGTGATGGGGAGAATGGAATCAAGTTGGAAAACACTCTTCAGGGTATTATCCAGGAGAATTTCCCCATCTATCAGGGCAGGCCAACATTCAAATTCAGGAAATATGGAGAACACCATAAAGATACTCCTCGAGAAGAACAATCCCAAGACACATAATCTTCAGATTCACCAAGGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTTGGGTTACCCACAAAGGGAAGCCAATCAGACTAACAGCGGATCTCCCGGCAGAAACCCTACAAGCCAGAAGAGAGTGAGGGCCAATATTCCACATTCTTAAAGAAAATAATTTTCAACCCAGAATTTCATATCCAGCCAAACCAAGCTTCCTAAGTGAAGGAGAAATAAAATCCTCTACAGAGAAGCAAATGCTGACAGATTTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACCAACATGGAAAGGAACAACTGGTACCAGCCACTGCAAAAACATCCCAAATTGTAAAGACCATTGATGCTATGAAGAAAGTGCATCAACTAACGGGCAAAATAACCAGCTAGTGTCATAATGGCAGGATCAAATTCACACATAATAATATTAACCTTAAATGTAAATGGGCTAAATTCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAGGCCCATCTCACATGAAAAGACACACATAGGCTCAAAATAAAGGGATGGAGGAAGATTTACCAAGTAAATGGAAAACAAAAAAAAAAAGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGCATCAATGGAACAAGAAGAGCTAACTATCCTAAATATACATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTTCTTAGAGACCTACAAAGAGACTTTGACTCCCACACAATAATAGTGGGAGTCTAAATAATAAATAGACACTTTAACACCCCACTGCCAATATTAGGCAGATCAATGAGACAGAAAATTAACAAGGATATCCAGGAGTTGAACTGAGCTCTGGACCAAGCGGACCTAATAGATATCTACAGAACTCCCCACCCCAAATCAACAGAATATACACTCTTCTCAGCATCACATTACACCTATTTTAAAATTGACCATGTAATTTTAAGTAAAACACTCCTCAGCAAATGCAAAAGAACAGAAATCCTAACAAACAGTCTCTCAGACTACAGTGCAATCTATTTAGAACTCAGAATTAAGAAACTCACTCAAAATCACACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTAAATAACAAAATGAAGGCAAAAATAAAGATGTTCTTTGAAACCAATGAGAACAAAGACACAATGTACCAGAATCTCTGGGGCATATTTAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAGATGCCTACAAGAGAAAGCAGGAAATATCTAAAATAGACACCTTAACATCACAATTAAAAGAACTAGAGAAGAAAGAGCAAACAAATTCAAAAGCTAGCAGAAGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACAAAAAGCCCTTCAAATAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAGCAAAATAGACCACTAGACAGACTAATAAAGAAGAAAAGAGAGAAGAATCAAAGAGATGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTATTATCAGAGAATATTATAAACACCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACACATATGTAGCCTGTATGGACCTTGGGGGACAGAACAAAAGGGGGTGAATGCAGAAATAAAAGACAAAGACAAAAGAGTATGTTTGGAAGTAGGGGTCAGGGGGCAACTTGCCTCTAATGGACAAGGGCCCTGAGCTTTACACCACCCTCTGTATTTATTAGGCAAAAGAGATAGCGAGAGGGTGAGTTGGAAGAAGAGGTCAGCTGTTAGGTCCAGAGTAGGCCTGCAAGACTGCATTCCTCAAACAATAGGCTCTAGATGTCCCAGTAGATAACCTCAAGGAGCCAGTGCCAGGGAGTGATGGCCCTCAGCAAACCTTCTAGGGCAGGCACAGAAGTAAGTTTGCCCACATTCTGTATTCACGATAAACAGTTTGCTGTTTGATCAAGTAGCCTCCAGTGGAATGCTGAGTTGGTCATGATCCCTTTGGCCTTTTTGGCTCCCAAAACACATACACCCTCTCAAGACTAAACCAGGAAGAAGTCAAATCCCTGAATATACCAGTAACAAGTTCTAAAATTGAAGCAGTAATTGATAGCCTACCAACCAAAAAAAGTCCAGGACCAGACGGATTCACAGCCAAATTCTACCAGAGGTACAAAGAGAAGCTGGTACTATTCCTTCTGAAACTATTCCAAAAAATAGAAAATGGGAATCCTCCCTAACTCATTTTACGAGGCCAGCATCATCCTGATACCAAAACCTAGCAGTGACACAACAAAAAGAGGAAATTTCAGGCCCATATCCCTGATGAACATTGATGTGAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGCACATCAAAAAGCTTATCTACCATGATCAAGTTGGCGTCATCCCTGGGATGCAAGGCTGGTTCAAAATATGCAAATCAATAAATGTAGGCCATCACATAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAGGCCTTTGTCAAAATTCAACAGCCCTTCATGCTAAAAATTCTCAGTAAACTAGGTATCGATGGAATGTATCTCAAAATAATAAGAGCTATTTATACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAGAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAGATACTATTGGAAGTTCTGGCCAGGGCAATCAGGCAATAGAAAGAAATAAAGGGTATTCAAATAGAAAGAGAGGAAGTCATATTGTCTCTGTTTGCAGATGACATGTTTGTATATTTAGAAAACCCCATCGTCTCAGGCCAAAAACTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGACACAAAATCAATGTGCAAAAATCACAAGCATTCTTATACGCCAATAATAGACAAACAGAGAGCCAAATCATGAGTGAACTCTCATTCACAATTGCTACAAAGAGAATAAAATACCTAGGAATACAACTTACAAGGGACACGTAGGAACTCTTCAAGGAGAACTACAAACCACTGATCAAGGAAATAAGAGAGGACACAAACAAATGGAAAAACATTCCATGCTCACAGATAGTAAGAATCATGAAAATGGCCATACTGCCCAAAGTAAATTATAGATTCAGTGCTACCCCCATCAAGCTACCATTGACTTTCTTCACAGAATTGGAAAAAACAACTTTAAATTTCATATGGAACCAAAAAAAGAGCCCACAGAGCCAAGACAATCTTAAGCAAAAAGAACAAAGCTGGAGGTATCATGCTACCTGACTTAAAACTATACTATAAGGCTACAGTAACCAAAACTGCATGGTACTGGTACCAAAACAGATATATAGACCAATGGAACAGAACAGAGACCTCAGAAATTACACTGCAATCTACATCCATCTGATCTTTGACAAACCTGACAAAAACAAGCAATGGAAAAAGGATTCCCTATTTAATAAATGGTGTTGGAAAAACTGGCTAGCCATATGCAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAGTTAACTCAAGATGAATTAAAGACTTAAATATAAGACATAAAACCATAAAAACCCAGAAGAAAACCTAGGCAATACCATTCAGGATATGGACATGGGCAAAGACTTCATGACTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATAGACAAGTGGGATCTGATTAAACTATAGAGCTTCTGCACAGCAAAAAAAAACTGTCATCAGAGTGAACAAGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTATCGATCTGACAAAGGCTAATATCCAGAATCTACGAAGAACTTAAACAAATTTACAAGAAAAAAACAACCCCGTCAAAATATGGGCAAAGGATATGAGCAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAAACATATGAAAAAAACCTCATCATCATTGGTCGTTAGAGAAATGCAAAACAAAACCACAGTGACATACCATCTCATGCTAGTTAGAATGGTGATCACTAAAAAGTCAGGAAACAACAAATGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTCCACTGTTGGTGGGAATGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGAGATTCCTTAAGGATCTAGAACCAGAAATATCATTTGACCCAGCAATCCCATTACTGAGTATATACCCAAAGGAATATAAATCATTCTATTATAAAGACACATGCACACATATGTTTATTGCAGCACTGATCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCATCAGTGATAGACTGGATAAAGAAAACATGGCACATATACACCATGAAATACTATGCAGCCATAAAAAGGATGAGTTCATGTCCTTTGCAGAGATATGGATGAAGCTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCCAACACCACATGTTCTCACTTGTAAGTGGGAGTTGAACAATGAGAAGACATGGACACAGGGAGGGGAACATCACACACCAGGTCCTGTTTGTGGGTGCGGGACTAGGGAAGGGATAGCATTAGGAGAAATACCTAATGTAGATGACGGGTTGATGGGTGCAGCAAGCCACCATGGCACATGTATACCTATGTAACAAACCTGCACATTCTGCACATGTACCCCACAACTTAAAGTATTAAAAAAAAAACACACAACATGTTGCCCTGATGAAGGTCATTAGTGGCCATAAATAAGTAAAATGTGTTTTATGTTTTTATATATTTGTTAACATATAATATCCTTTACCATTTAAAACAAATCAGGTTCCACTAAAATCTTTGTATATTAATACCTGTGTATCAATACAGCATTTCTTAAATCAATAAGTATATCATTAATTTTTAAATTCATAAGTTTAAACATAATTTCTTAAATTAGTAGTTAAATAGAAGCCAACCCTTCTTCCCTGCAGTGGCCTTCATTTAGTGAAATATTAGCTATTACATAGACATATACTTGGTAAAATTCCATTCTTGTTTTCTAATATACATAGTCAGATTAATATATTATTTACTTTATGTTCTTAGATCCCGGTTAGCCTTTATTTTTGATTTTGTCCCATTTTCCTTTTAGATTCTAAACTTGGTCATGGCACCATTAAACAATTCTATAGCATTTTACAGTTTTTGAATAATTTGCACAGGCACTATTTTTTTTTTTCTTTTTACCCTCAGACAAATCTTTCACATGGTGGAAAAGGTATCATTATGCCCACTTTATACTGAGATTCTAAAGGAGGATAAGTACCTTGTCCAGGGTCTTCCCCTGACTTGGACCTGGGACCAGGACCTGGGATCAGGACATTTAAGCTCCTAGCATATTCTGACTTGAGGCCTCTCTAACATGCCTTCAATTTCCTTTTATGTCTCAAGGGTGTGTCTGGCTCCCCATGTGAACCGGCAGGGAGACCTGTGATGCTTTGCTTGAACTTTTGTCCTAGGTGAAAGTTAGATGCCTGGAGTCCCCTGCACTCATGCATCACGGTCTGCACATTCCTTTCATTTAGAATTTTGCCATGCTGTTCCATAGACGGTCCAGTGAGGCAGGGAATAAATCACTGCATTTGTTTAATGTTCAATCAAGTTAGGGCACTCTGCTGATGCAGAATGGAAGATGGAGATCTGTTTGTAGAAAAACTTCAAAAGACTTGTCAGTACAAAGTTGGCAGGGGGTGGAGGAAGGAATACCCTAAGAAAGTTCTTTAGGGAGACAAAGTGTCAGAAATTTTGATATTGGTAAAGCTAGTCCAAAGGCCAGTTTTGATAGTTGATTCTATTATCATCTCCTGCAATTCTATTGCACTTACAATAGGTACCTTGGAAGGGGTTGGGGTTTGGACTCCCATAGCTTTGCCAAGAATTTCTCCAAGATGAATTAATTGCTATTTTCCAAGACTATCTGGCCTGTAAAAGAGATTTGAGAACTAGGGGATGCAGGAGAGGGAAATTATTTCTAAGAAGCTGAGCATATGATAAATATTCCTTGTTTAAAGAAGACTGTTATCAAGGCCTAATAATTTGTGATGACTGGCACCTGTAAAATCAGAGCTTTGTCGATTTGCTTTCTCATTTGACGGCAAACAAAAGTGTGTGCTTTGGGATAAGAGCAAGAGCCTGGGCAGTTTTTCTAACTGGTCTTCTGATTGTTCAGGGATTTTCTCTGTGTTTTATATTAAGCAACGTGAGCACGGTATATATGTGTTTTGCTGATAAGAAGAGAAAAATGAATTGGCAGACACCTTTTCCCAGACAAGACAGGAGAGCACTATTTGAACAAAGTGGAAATTGGACTGCCTTACTGGATGATCACAGCACTGATGTTCAAAGCTTTCAGATCATGTAATAGTCTTAGGTTCAGGTACACAGCATTGAAAGAAGGAAGAAAGCAAGGCTGATTTGAGGGCATGTAGAAAAATGAAAAGCCTTTATCTGAGAAAGCAAACTGGCGGTTATAGGTTATCTGGTCACCTTTAAAGGGAAGGAACACTGAATTAATTATAGGAGCTGAAGGGCACTTGTTAATAGGTACCCTCACACAACACTTTCTTATTTTCTGAGCTATGATTCACAGCTGGAAGCACACAACCAGAAATAACAAATCCACTGGCGGGCAACCAGCATTTCTTAACACCTATGGGTGCAAATGGGGATCTTGACTCCTCTCCACTCTGGAAAACCACACAAAGCCAGGGAAACTTGACGTCTACTAAATGGAGTGTGACTGAGCCAATTGGTGGGTTTCATACCACCATACAAAATCAAAGATGCTCAGTTTTGCAAATTACCTCATCACAAAAGATATTTAACTACAGTTACTCACCTTGTTGCCAATAAACGTCTGAATAAATCTTCACCATAAAGCTATTTACACTAATAAAACAATACCAGGCAGAAAAGCTATCTGCTGAGTCTGGTTCTTGTTTATTGAGAATATAAAAAAAGGCTGTTAAGGCCTTGTAACAGTTCTCAAATTAATGGCTGACTTAGGAACACAAGTACGTATTTCAGGACAAATGCATTATATAAACCCAAATCATTAAGAGTTTAAGATTCTTCCTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTTTCAGTCTTCTTGCCCAGGCTAGAGTGCAATGGTGTGATCCCGGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCCCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAGCCACTGCGCCCGGTCTCTTCCTAACTTCTAAACCAGGCTGTTTTCAGCACACACAGTTTCTCAAGGAAAAAAAAAAGCTTCTCTTTTGATCTCTTTCATGCTTATAGCCTTTATAAAAAATGTACACAGAGTCAATATTTTTAAGGGATGCTAGTGAATTATTCTGAAACCTAAGTGACTACAAGCAAAAATATCTTGAGAAGGGATAACATATTATTTCCTCCCTGAGTAATTACTCAACCTGCAGGCAATAATCACAGCAGTGGCTGGCATTGTAACAGAAGGACTGATATCAAGTCCCAAGACACAGTACTCAGTTAAAAAGACATAAATGACAAACAGCTCAACAGTGTTATATTAAGAAGTTAAGCTTGAAGGTGACAAAAAGCTGGGTTATAGTGGGAGTTTATAACATGCTCATGAATTTTGAAAATGCAATCATGATATCTGTGCATATTTACTTCAAATAGATGCGTTCTGTGAGACTCTAGGGTTACTATGAGGTGTACTCAGTTGCAGTTTTAACTTTACAGAACTAAATAGTTAAATGATTTTGACAGCACCTTAGAGGATTATTGACTACATGTTCAGCCTACCAATTGCAGAAAACATAATGGAAAGCCTGGGTGGGCACTACATTTCAGAGCATGGCATTAGCATTGGGTATCACTCATGACACAGATGGGCCTTGTCTGCTTGGGGAGTACCTTGCCCCATGTGGCAAGTTTGCCGCTTTGGCAGGAAGGCCTGATGTGAAGCTAGATTGAGAAGGGAGAAGGTGTGCAGTTTGTAATACTTAAACAAGGAGTTCACTAACTTGTAAGTGAGTCATCAGGGAAGAAATGTAATCAGAACTGAGAAAGCCAGACCAGGCTCTCATCTAATTCCACCCACATCTGTCTTGTACTTTATAGTCTTCAGATGCCTTCATTCACCCAGTATCCCCAGGTGGTAAGAAGCACATGTGTTATCATTGCCATTGTCAAGATGAGTGAATTAACTTTTTTATAAGCAGTCTATAAACATTTACTGTTCTGGATCATATCTTTATTCTTTTTGCATTTACCTAGCATTTCAACCACCAATTTGTTTTTATTCCTTACACAATTTCATTAAGATTTTGGGGGCAGGATAAAGTGTAACAACAGATAATGAATATGATGTAATTTCAGGTTTGCCTGGGAACTCAAAATTGTAGGTTATTATGGGGATTAAGTGAGGAAACCTGAGGCCCTGGGAAGTTTTAAGTGGCTGGTCCTCAGTTGCCCCTCCATGTGGCAAAGCTGGAACCAGAACCCACATCTTTTCTAGTCCTGCAAGTTTTCTGCTCTATTGCCCTCTCTTGGTAGGAAAACATCACAGACCATGAGGCTTCACTTAAAGGTGGAGAAAGGACAAGAGGCAGAGAGACTCCACAAGTTCTAGCTATGAGGTTTCCAAAAAAATAACAGAAAAGAGATTTTCTTGACTTTTATTATGGTTAGGTATAATCATGACCCAAAAACTCCCTCCCTATTGCTAGAGAAGGAAAACTCCTTGCGCGAAATTTATTTTCTGTTTCTTTGGTCTCAATTTGAAAATTTAGGTACTTTTTTTTCAATAACAGACGTTTCAAACATGTAAAAACAAAGTACTATTCTTTTACCTCAAATCTGAAGGTCAACAGTGTATTACTCTAACCTCATATTTCATGTATAAATACAGATGCTCGTTGACTTATGATGGGGCTATATCCTGATAAACCCATTGGAGGTTAAAAATATTTTAAGTTGAAAATGCATTAATACCCCCCCATAAACCCACTGAAAAGTAAAAAAAAAAAAAATCTAAATCTAACCATCATTGAGGATAATCTGTACCAATTTATTAATACATCTCCTAACTCTTAAACTGTGATAAAATGCAAATGTTTAATACAAAATTCTACCTTAGAACAAGAAGAAGTCATTTTTTTTTCATTTTGTCTAGATGTCTAAGTGATTCTAGATGCTATAAATGTGCCAGAATCAGAGATAGGTATAGGCTTGTGCCATTCAACAAGGTAGTCACGGCCTTGTGTGGTAATTTAAATTTCAATTAGTTAAAACTAAATAAAATTAAAAATTTAGTTTCTATTTGTGCTACACACATTTCAAGTGCCCAACAGCCACATGTTGCTAGTGACTACCATATGGAACATTGCAAATATAGGTTATTCCTATCACTACAGGAAGATCTATTAGACAGTGCAGGTGGTTAGGTCAAGCATCCTGAGAAAATTATGAGAGGAAGAACAGAGGAAATTAACATCTATCTTTATCTCTTTGATGCTTCCTATGTTTTTGGCTGTTGACTAAATGGATACAGCCAGGGCACCAAATCATGAAAAACAGTTGAGTAATAATTTAATAGGTCACTATACTTTTAGGAAATATCCTCTTCCTTCATTATACACTATCAAGAGAAGAGAACTGAAATAATAGTTTCTTCTAATTGTCTACACAATACGTTTTTCTGGAATCCTCCCTTTAACAAAAATCACTACCCAAATTATCTTTTATATTCTATGATGGGGTTCAGGACACTGTACTCCCAAATGTTTTAAGCTGAAGGAATTTGAGAAAACAAGAAAAGCAGAAAGATCACTCTGACCTTCCCCTCACCCTCCATCCTGAAGGAAGTCATAAAACCTAGGATTTTCTGACCTTCCCATGTAGCAAGTCATAAGACCCTCATGCGAGAGGTGCCCCTGTTATACCCAGAAGAAAGAAGAATTCCCCCCCGCCTTTTTGTTTGAGATGTGGTCTTACTCTGTCACCCAGGCTAGAGTGCAGTTGCATGATCATGTTCTGCTGCAACCTTGAACTCCTGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTCAGACCACAGACACATCCTCCACACTTGGCTACTTAAAAATAATTCCTTTTTTTTATTATTTATTTATTTTTTTTTTAGAGATGGGGGGGTCTCGCTATGTTGACCCGGTTGATCTTGAACTCATAGCCTCAAGGGATCATCCCACCTTGGCCTCTCAAAGTGCTGAGATTACAGGCATGAGCCACTGCTCCTGGCCTAAGAATCCTTATCTCCAAAGACAAAGGTAGAACAAATAAGAATCTGAACAAACAGGCCTTGCTAATTTTCCCCAGTTTATTACCATTAGATCATACTCTGCCCTATCATATTTCTCCACAACTATCCACACTTTATCAAACTTACTGTAAAAAATTATCAGGTTGAACCACTTTTTTGGGTCTTCCTTACCAAGGCCTCTGTGTCACGTAAAACATATTCAATAAATGAGTACACTTTTCCTTTGTTATTCTGTCTTTTGTTATAGTGGCCTCAGCCATGAACCTAGGAAGGGTGGAAGAAAAGGTATTTTTCCTACTCTATATCTAGTATATTCCAAGAAGCATAGAATGATTGTTTAGAAAGAGGAAAAATACTTCAACAGGGTACCTACAAACTTTTGAGAGCAAGAAATAATAAAGACAGTCACATTTTACTGCACAGTGAAAACCGCTCAAAACCCTACAGGACAACTAATATGACCTGTGAAAAAAGCAATATTAGCTTCGTTAGAAGCTTTCCAGTTTCCCAGATTTAAATTCCTTAAGGTTGAGCACTGAAATATTTGTGGAGAATCACACAAGCCTGTTATGTGACAAGGTCTCATTACCCCCTTAAGGGTGCTCATCTTTCACAGAAACTCATTTCACATCTCATCAGTTGCAACCATGAGCTGGGGAAACTGGTTTCTCATTTCTCAGAGGTAAGAATACAGACACAGAATTCAGAATAAAGGACTAGAATTTTTCCCTAATGAGACTAGGCTCAAGCAACCCCCACTTCTGGAAATGGAATAAGCCTTTTGCTGTTTCCCACAGGGCACTTGACAGTGATAATTGTGACACATCTCAAAGGTATTTCAGGAGTCTCAGGGGCATATGACAGGAGTGTTTGTTCCAGGTAAGCAGTTACTGGCTGGTGATGGATGTTTATTTTTCCTTTCATCCAGCACTTGACAGAGTGATTTTATAGAGCTTTGCAGAGTTCTAGAAGTAAAAATATTAGGACACATGTCTTAAAGAGATGCTTTAGATACAGTTTCAAAGGATGCCAATGTTTCAAATCCACTCATGCGACTGAACAAAGAGATCAAGAGTTTTCCCCTCTACACATTAACTGAGAACAGAAATTTGCAAGTAATGGTTATTGTGTAGAGAGATAAGAAAGGAACTAAGAGGAGGAGGGTAGCCAGGCCTTCAGTGTTCTTCAAAACTAACTGGCTGGGAGGCAAGGGTCTTTGGGGGTCTATGGTTCACTCTGCTCTTCCCACAATAAGTAATTTTTTAAATCAAGCTAAAAATTCTATCTGAGCATAGAGTCAAGATAAAAATAAAGCACTCCACAAATACATCAAAGTCCTGACCTTGAATGTTCTTCCTCACAGTTACTACTAGGTAGAGACCTTGTCACTTCCTAGATTATTTTAACTATAACCTGATTACTGCATTCTGCATTTATCCTTGGGGTATGATTAAAGGTTATAAAATTCAGGTTCTTAGAAGTGAAGGACAACATCCAATCTAGAGTTCATCAGTTCATACAAAAATAAAACACAATGAACATAGATGATAGCATTCTCTAGATATGAGAACATTTTTTTTCCTTTGAAAACAGTGGGGTGGATCAAGCAATTCTTATGACTTAAGAAAATATGTTCCATGTAGGGCTAAAATAGTGTTTCCCTGTCTGAAGTAAGTATGGTCATGGTGGAACAATTTCCTACATTTTCCAAGTTGAAAATATCAATTATTACATACTCATTTTTGCTTAATCCAGAAGTTACCTCCTAACTTACTACGATTTTTGTGTTGTTTTCAGAATAGAAATCAAAACCAAAACACCACCACCACCACAAAAGCCTCCAAAAAACAGTTTTACAAAGCTGGAGATTTTGTTTAGAGAGAACTACCTATTCCTTTGTTGTGGTGGACACTTTTTAAAAATTATTATTATACTTTAAGTTGTGGGATACTTGTGCAGAACGTGCAGGTTTGTTACGTAGGTATACACGTGCCATGGTGGTTTGCTGCACCCTTTAACCCATCACCTACATTAGGTATTTCTCCTAATGCTATCCCTCCCCCAACCCCCAACCCACCGACAGCCCCCAGTGTGTGATGTTCCCTTCCCTGTGTCCCTGTGTTCAACTCTCACTTATGAGTGAGAACATGTGGTGGTTGGTTTTCTGTTCCTGTGTTAGTTTGCTGAGAATGATGGTTTCTAGCTTCATCCGTGTCTCTGCAAAGGACGTGAACTCATCCTTTTTTAAGGCTGCAAAGTATTCCATGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCACTGATGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATATGTGTGCATGTGTCTTTATAGCAGAATGATCTATAATCATTTGGGTATATACCCAGTAATGGGATTGCTGTGGACACTGATGGAGAGCAACTCAAACAGTAATTCCTAACAATGATGTTTGCTTCATATTTTAGTTTATATTTTAAAACATATTTCTGCATGATGTTTAACATCTTGCAAAATATATTTCATATGCATTATTTTATTTGACCCTCAGAGCAACTCTGGAAGGGGTTATCTGATATATTAATTTTTCAGTCCTATTTAAATATGTGAAAACTGAGTCAAAACTTTAGTGACTTGCATGTGTTTCCACAATAATAAAGTAATTAGAGCTGCTGCCTATGTCACGGAAGAGCTCTAACTCCTCTTCAGTCTACTCTCTCTCTCTCTCTCTATGTGTGTGTGTCTGTGTATATATATATATATATATACACAGACACACACACACATATATATATATATATATATGTAATTTTTTTTTTGAGATGGAGTTTCTTTTACCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCATCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGTTGGCCACGCTGTTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGCGCCCGGCCTATCTTTTATGCTCAATAAAGTGCTATATATTACTAGTGATAAGAAAAACCATAGACCCTGGAACCAGTGGATTGGAGTTGGAGTCCTGGCTCTGTGATTTACTGACCAGGCCATGCTGGCCAACTTACTGATCCTCTTAGGGCTCAGTTTACTCACCTATAAAAAAAGAATAAAAATAGTGACATTTTTACAATATTGTTGATGGGGTGCTAAATGAGCTAATGATTACTTACAATAGTTTTTGTCAAGCAATAAATGCCATTGTTACTATTATTAAGGTTATTGTGCTCTTTAAGTTTTTGTTCCTCCTATATTCTTTTACTTTTGTCTATTTTTGCATAATCCAAGAGCTGATTCCCTGAGTAGCACTTAATAATAGTTAAAATAAACTGAGCATTTCCGGTTGAAACATACTTCATATTTAGAAAATAAAAAGATCTTTGACAATTTATATTTTGCTATCTTTATTGTGCCAAATTTATTAAATGATATAATTGAATTAAGGTTTTGCTTATGAGATTGTGCCGTCATATCCTGTAAATGAATAACATCATATTTCTCTTTTTTTCTGTCTTTCTGCAAGTAGGTCAAGCTCTGAAATTACTGTATCACATATTTGATTATATATTCTAACAATGTTGATGTTGATCCACATGGTGTATTGTTCAAATTAGAAAAAACAGTGCCTTCGTCAGGATAGGATTAACCTGTCATCAGGACACTTGGCTTGGCAAACCTAGTGTGGGTAGAATTTCTGCTCCTAATCAAACCCTGGCTGGGTGCCCTTGTGCAGTGAACAACCTGAACAACTGTATGCAATGGCCCTGTCTTCCTGAATCCTATAGATTAAGCATTGCAACAAGAAATCTAAGAATGACATACCTCATGATACTTTTTCACGGTTTTCCCTGAATTGCATGTGCAGGACCTCCAGTTGACAGTTCCACAGCCACAATTTCCTCCACAGCGCTGCACGAGGAGGCAACGTGGAAAGAAGACCACATTGGCCAACTTCAGCTCTTCTCTTATATTGACCGAGTAATTCCTGGGAGTGCAACTGTAACGCTTGGCATCATCATTGAGCCTATCCAGGTCAACTGTAAGCAAATACATGCACTGTGTAAGCAAACACAACAGTAAGCACAATTGCTCAGCATGTGTTTTGGGGAATAGAGTGGGAAGATTCTGTGAGGACAACTTTAATCCTGGGATTAAATCCATCCTCAGGCTCTCAATTACTGGGAACCTAAAGTAAAAGACCTAATTTCTCTCTTGATCCCATCTACCCTTTGAAAATAACAACAAAAACAAAACAAAACAAAAACCTTGGCTAAAATTCATGTCTTGGTTCAAATTTCCTTGCATCTTTTTTATGCAAAAAAAGTTCAGAGGAAAGAAAATGAAACATTTGGCAAATTAAAATAATTGCCTTTATCTTCAAAAAGACAAAATAAACTGCTTCTTCATTCTAAATAAATCCTGACTCTAAGCCATCACTTAAATATAATTTAAATTATATCTAGGACACATTAGAGACAACCACTGTATTATATTTACCTGGCAGTGAAATTTCACACATAAATGTAATAAAGAAAAGGGTTTTAGTTTTATTTTTAACTTCAAAGTTAATCAACATGTTAGAGAAAATGATTTTTTTGTGTGTGAATATGGTGCATATTTGTGCACTGGGTCCTAGATGGCAGTATAGCATAGTGGTTAAGTGCTTTGGAGCCGCAGTAAAGTTACAACTGCCTTCAATCACATCATGGCTATGTTTCCTTTTAGTTGGAAAGTTATTTAATGGCTCTGAACTTCTGCTTCCTCATCTATAACATGTAATCATTTGAAGAATTGAATGTAACGTGCCTGGCACTCAATGCCAGCTATTCTTACTAATCTTGATTCATCTGAATCTCCCCCTCTCACATTCTTTTCCTTTAAAGTCAAATGGACAAAATTTAAAAATATACTACGTCTTTCTCCCTCTTTATGTTTTCTTCTTTGGACATTATATAAATGATTATCAAGGGATATGGTCAGTGGGACTTCTATGAACTAAAAGCACCACAATATTTTCAAAGCTAAGTCATAAATATTTACTTGAATTCAATTCGCATTATTGTGTTACATAAATTAGATTTGATTTCGTGTTCTCCAAGTCCATCCAATTATCCATCCATTTGGCAGCCAAATCCTCTTATTGGTGCATACATACATGAGTATCTTCTCACAAGAACACAGTTAGAAGCAAGTCCTTTTGTCTGCACAGAACCCACCACCCTTTCCCAATGCACGCCCTTGTGTGCACCAGGCCACCACAGAAGGAATCCCATGAATGTTAGGCAGTTATCACCATGTTCATTCTAAACTCTAGCCCTGGTAAATGTCTTAGGCTTAAACTGAAACTGCTTAAGGAGAAGGAAGAAAAAAAGCCTTTGGGAGCAGAGGTCAAAAGTCAAGGACAGTGTCAGTAGAATGCATCTAAGGAAAATTGCAGGAACAAGTGTGGACCATGAGTCCACTAACCGCATCCCTGTTTGTCTTTTTATATCTACAACTGTGCTTTGATTCTCAAGGGCAGGGATTTATCCCCAATTGTCATACGCTGAGCCCAGGATACTGTGGGAACTAAATAAATGCCAAATAATCACTGTGCATAATTTATTGCTGTTTTTTTCTTCCTTTGTAAAGACATGTCATAACTTTAGCTATAATCAATCCAGATTTAAATTGAATGAACTCTGTCTTGGGAAAGGAACCATTTTATTGCTGCTAAAGCCCTGAAAATAACTGCAAGCAAAGCAGAAAGGATTACATAAATGGATTAAGAAGTGCAGCAATCATCCATTACAAGTGTCACCTTGAGATAAATACTGATGCTGGCCTGTGCATTCCTGGGCTTGTGAACAGGGCTGATGCAGAGGGCCAAATCTGCTGCTTGTGATAATGGGAAGATATTTGTCTAACACGGAGGACTAAAGAGGTACAATTAGCAGGAAGGGATCGTGATGTGTGAGAAGGCAGAGAGGGACAGGACGCAAGCGGCAACACTGAGTCTCTGCTTTCGTTCAGCCCTCTGCTGAACTATGTCATAACCTTACAGATATGACTACATTTAGTTGTTCCCCACCCATTTCAAGTGAGTATTATTTGCTAAGAGTTAACAGTAAATGGTAAAACTGGAATTGAAGCCTTTCCCCCTTTTGCTCCATAGTCTCTGTCACTTTAAGCAGAATAGAGGGATGGTCAGTAAGCCATTAGTTGAAGGAAGAAGACCAGTGTTATGAGGGCTGTACTGGACTTTCCTGTCTGATGTTGAACCAGGGTTGGGTGGTGAATGGCCACATCCTTATCTTCAGAAGACACCCAAGCCAAAGTACAGCATGCCTTCCCTATAGGAATTCCAATAAACTCCAAAGTGCCCTCCACAAACCAGGAGAAGGCATGTAAGCCTCATTCTATTTGAAACCAAACTCCTCACATTGTATAACTCTTTGACTAGCATTGGTTACTTTCATTTCTTACTCACCATGAGGAGATTCACAATTCTGTCAGTTTTATGCATCAATTCACTAATGTCACTAAGAACTGTGACCCAGTGTGACTGCTGTAGAATCCACCTGCCCTACATATCAGGCGATTGAAATCACCGAGGCACTCAATTTAGAATTAGAACTGAAAGGTTGTTCTGACTGGATGCAAATAACTTCAAAGCGTGATTGCAGACTTTCTGCAGGGGATATTGAGTTTCCAGTCAAAGAAGACTGATAAGCCAGTGCAGCAGAGCAGGGAGCCAGACAGAGGCTGAGCAGCAATTAAGGTTTCTGGTGCTTGGGTTAGAAGGAGAATTCTAGAGTGAGACTTCTGGGAGGGAGACAGGCCAAGTGGTGTCAACCGAGAGAGAGGGGCTGCCCTTTCTGTTCCTGCATCAGTCTCCATAGCTGAACATTCAGAGCATCAAGGGTGTTCCAAATTTAATTCAAGGGCCCGCTAATTTCAACTAACGTCCCTTATTTCATCCCAGTCTACATCATGGAATAATCCCTCTTTTTCTGTCATTCTGAATTTTAGTTTTGCTTTATCAAAGCTCTTTGACATCAATTAAGTTTTTTGGGCCTCATACAGGCAGTTTTCTGGAAAGGCTGGGAAGGCTCCCCTGTCCTCAAAAACTTCCTTTGGACATACTGGTAAAGTGTGGGGTGCTGCACAGTGCACAGGGGCGCACTTTTCCTTCTGCAGCCCTGCCTCTAGGTGCAGCCTAATCACAGAGGTGCTTTGAGATGTAATAAGAATGCTGGGATCTGAGCTCTAGAATGGGGATGTGAATGCACACCCTTTTATAGTTTCTAATATTAGGTGTGGGAGGAAGGAGAGTCAACCTGTTCTTTTTGATCCTGGCCATCTAGACTACTAAGTGCTGTGTTCATCATGAGTGCATGAAATACTCATAAATGCTATGAATTACATACAATCATTACTCTTACTTTTGCAGTTGAGGAAACTGAGCCTTTCAAAAGTTAAGAAAAAAAAAAAAAAAACTTGTCCACAGCCATACAACCAGTCAGTGGTAGAGCCAGAGTTTGAATCCAGGCCTCTTCATGCCTTTTGTACATTATGAGCCCAGTGTAAAGATTTGAAGGAGGGTTCAGAGAGCAGCTTCCACAAGCGATGCTGAAGTCTTCCCACCAGAGGACCACTTGCTGTGCAAATGACCTGGCTTCCTAGGTGCACCCATAGGCACTAACCTGTCATTTTCACAATGTCATTAATACACATACCCAAGCACGAGCAGCTGTGTATCCTCATCCACCTATTCAGTTCTGACTAATAAACCAGGCAGCTATTCAGAGTCTACTTTTGTCTTTGGTATTGTGATAAAACATTTCGTCCTTTTATCTGAACCGAGTGGACTTTGGCCAATGCACACTCTTCCTTTTGTCCTCATTTCTCCTTGAACCCTTTCTTGCCTCATCTAGGAGCTGAATGGATTGATAGCAATGATTTGTCCTCAGTGGGAACAAATGCCAGGATCCTAAAGATTCTAGTTTCTGTAGGACAGATAAAACCAATATAATATTTCACATACTTGGCAAGCACAACATGGGTGGTGATCAGCTTAAGATAAAAATTTAAAAATCTATTCCTTATTAAAGTGAAACATATTTATTATTTTATACAAGTTACCTGTTCTGGTGGACAGAAGTCCAAAATGTGCCTTACTGGGTCAAAATCAAGGTATGTAAAGGTAAGTCTGTTTTTGTGAATACAAAAATTCATTATGAAACAAAATAATCTCCTCACTTTGAACATGGGAAAGCACCTTTGTTCTCCACATGCACAATAATTTACTGCTTGTTTTGGTCAACAAGAGGATGGTTTCCTTGAGTCAGTCTCTAAACATTAAGTTATCAGTTGGCTTTCACTGTGCTGGCCATTCATCAATCTTTATTCTGATAGTAGAATCACATGCTTTTTTCTCTTGATCATCCACAGACTGTCAGAGAATCCAATTAAACTGCTGCATGTCCTTGAAGACAGTCAGTAATCTTTTTCTTTTCTTTTCTTTTCTTTTTTTGAGACAGAGTCTTGCTCTGCTGCCCAGGCTGGAGTGCAGTGGCATGATTTCAGCTCACCATAACTTCCGCCTCCCAGGTTTAAGCAATTCTCCCGCCTCAGCCTTCTGAGTAGCTGGGACTACAGGTGTGTGCCACATGCCCAGCTAATTTTTGTATTTTCATTAGAGATAGAGTTTCACCATGTTGGCACCAGTAATCATTTTATTGTTGTTACAAGGTCTAGCCTTTATAATGCTAAAGTTCTTTATAAACTCTTAGCAGGCATGCAGCAGCAGCCTACATACTAGTGCATATTTACCACATGGTGATGGCATGTGGAGAATGAGCACTCAAAGTAGGGCCATGATGTTTTTGAAAACCATGCTCTTGTTCTTCTGTTTTGCTTTCTCTGGCATCTCAGCTTGCTATATTATTTTAATCTTCTAGAGCTCAAGTCAAAAGGCATATTCACTCTACATCTCCTATGACTCCTTCTCTATGTACTCACCACACTTTTTCTGCCCTCTATTATAGCATTTACTTCATAGACCTTGTTTTGTTTTCTTTGCAGATAGTCCAACTTACAATGGTTCAACATGAGTTTTTTTTTTTTTACTTTTTGATGGTGCTTTCAGCTGTGTATGTTAATGGTGAGCACCCATAAAACCATTCTGTTTTTCACTTTCAGTAAAGTATTCAATAAATTATATGAGCTATTAAACCTCTATTATAAAATAGGCTTTGTGGTAGATAATACTGACCAACTATAGGCTGATATATGCGTTCTGAACATGTTTAAGGTAGGCTAGGCTTAGCTACGAAGTTCAGTAGGCTATGTGTATTGAATGTGGTTTGACTTAACTATATTTTCCAATTACAATGTGTTTATTGGGATGTAAACCCATCAAAAGTTAAGAAGCATCCATATTCAGGTGCTTCTCTTCTATTGAACTAAAAAAGTTGTTGGAGGTAGAGAGCTAATCATCTTTTTATCCCTTCTCTTCTAGTACTTTGTCCCTAATGTAAGGACCAAATGCAGCTCATTCAAGCTCACTTCTAAAACCATTTGACTTCAACGATTAGGAGCAAGGTGCTGCTGAAGGAAGCACAACATCGTCTTTGTGCCAGATTCCCTTTGCAAGAAATAGACACTCAATAATTACTACCTGAATGAATCAGATAAACCATGGATTTTTTCAGTTTAATTTTTTATCACAAAGGTGAAACAATTCCAACTATCTTTCAGGAATGCATAGAGTATTATTAATACTTTATATGTTGAATGTTTGGATCTTATCTCAAGACTAGTCTAGGATGTGGTGTAGTGCGAAAGTGTTAGGTTAGAATTAAGAAACTAGGATTTAGAACCATCTCTGCCAAGGATGAACCAAGATGCATGAGATGACTGGCACCAAGATCTGTGAAATATAGGAGTGGCACACATGGTAGAGCATGGTCTTGAGAAGACTGGTTCTCAGATGCAAACATCAAGGTGCTAAGGAACATTGCCTTTGTCAAATGGGAGACAGTGCCATAATCTGTTATGAAAAGTGCTAAACATTTCCCTTTAATGTTGCAGCACCAGGTTTATGATGCTTTGGGGTGGGGTGGGAGGTGAGGGGACTATAGGAATAATTGTATTATTTTTGTTAAACAACCAGGGGCTCTCAGCCTTTCTCAAGGTTCATAAGTTCACCAGGAGTCTTCATCCTTATGAATATTACAACCTCACTGTGATTTTCAGAATCCCTCTTCTATAAATCAGCACATAATTATGAAAACTGTTTTCACATTTCAATCCCAATGCAGAAGTGCAAATAAATCTGGAAAGGACAATTATTTTATAAGTTTTAATGAGGGACTATCAGGATACTTTAACTTAAAATTATGAAAGACACTGAATTTTGTGACTCCACATGTGGGTTTAACATCTAAAGAATAAAAACATTTACCACTTGTTTTTACACAAATTAACCTAAATCACAGCAAAAGATTCTTAATCAGACAATTCCTGATTTTCAAGGTTTAGAAGCATTGTGAAGCAACGAGTGAATGCAAACTTACTGAGCAACTACTATGTATCCAGCACTTTGTGAGATGCTTTCACAAAATCAAATTTCATTTAATTCTCACAGCAAACCCTCATCTTAGATATTACAATTCCCATTGGATGGATGTAGAAACTGAGTTGCAGAGGACTTAAGTGACTTGCCTAAAGCCACTGGACGTAAGTAGATATTCAGCACATATGTACTGGAAAATCAATGGATGACTGAATGAATATCTGGAAGGCACTGAATTAGCCATGAAAGCAGTAACACCATCATAAAGCCATTCTCTGAACCCTGGGAATTCATGACCTGGGGTGATGTATAAAGCATATCTATGAAATGAAAAATTTTTTAAAAAACAAGTTAGGAGATGAAGGTCTTAAAATTTCTTGTTCTCATTTACTAGACTATGAATCCCTGAGCTTTAAACACCATTGAGTTGCTCACAGCATGAGCTTTGCAGCCAACAAGGCCAAGTTCATGTCATGATTCTCTATTTTCTAGCTCTCACAGAAACTTTCTGAATTTTTTTCTTTTACTATGCAAAATGGGAATCACAGTAGCTCCTGCCAAGGAACTTGTTAAGATTAAATGAGTTTTGAGTGTTTGAAGCACAGGTCTAAATCCTACCTCTCAGTAGGTATGCCCACATTATTACTGAAGTGAGTAACACAGATCAAAGAAGGAAGTTTAAATCAGAAGCACCTAAAACTAGAAGGAGCTGAGATTCTGTAATTGGTGATTACTAAGGAATAGAAGGCCATGCCCACCTTGAACTAAATACAAAAAGCCAATGATCAGGTGTCTTCAGTTTGATTACATCAGACGTAACACTATCCTTTGCAAGTGTATTAGTCCATTCTCATACTGAGATAAAGAAACACCCAAGACTGGGTAGTTTATAAAGAAAAGAGGTTTAATGGCCTCACAGTTATGCATTGCCTGGGAGGCCTAAGGAAACTTACAATCATGGCAGAAGGCGAAGGAGAAGCAAAGGCACGTCTTACATGGTGGCAGGAGGGAGAGCATGTGTGCAAGTGTAGGGGAACTGCCCTTTATAAAATCATCAGATCTTGTGCCACTCACTCACTATCACAAGAATAGCATGGGGAAAACCATCCCCATGATTCAATTATCTCCATCTTGTTTCTCCCTTGACATGTGGGGATTATGGGGATTATGGGGATTGCAATTCAAGATGAGATTTGGGTGGGGACACAATGCATAACTATATTAGCAAGTAAAGACACTCAGTGAGTTGGATCTCTCAGCACCAGCAGGGCCTACAAGCATATATGCTCTAGGAGCAGTGTAGTGTCTCCTTAAGTCTAGTGGGGCATAAAGGAAAACAATCCCATAATAATTTTCCAATGCTTCACAGAAAAAAATTAGCACAGCAAACACAAGGAACACACATTTCTCTTTAACAAGAGTAATTGCAGTGGAAAATGCACATTTGTTCATCCGACGCTAAAAGTTACCTATGGCTTTCCACTGTCAACTGGATTTTTCCTATTGATTTGCATTTGAATGACATGCCTAGATGAGGGGAATAACTTTGATAATGAGGGTGGGGTTAGGATATCCACAAAGACGGACAACTGCGTCTAGGATGAAAGCAGAGGTGGCACAGGCACCAGGAGGAAAAACAACTGAAAGTTGTCCCACTGCTGAGATTTTCTTAAAATATTTCATGTGTGTGCCCTCATAGACACACACAATATGATAAACAACAATATGGTTTTTATGAATGCTTGCTGGCAAACAGAGTAAGTGAGGCAGCTAGATACTTACAAATCATATGAGTCATAAACAGTGGCAAAAGTCTCTAAAAGAAAAGCTTAGCAGAAAAAACATCCAATAAGCAAAATAGTGTCAGAAAATTTCTGGATAAATAGTATCAGAAAAGTTTAGTACTTGGAGATAATTTTGAAAACTTTTAATGAGTACACTGATTATACAGATAATTAAATAAGACAATATTTGCCAAATACTATCTGTGAGGCTCTCCAGATTACTGATGGTTATCTTAGAGCCTTATAGGGAAGACAGCAGAGCAATTAATAGAAATATCTTGGTTCTGTGCAGAGTTTTGCAAGCAATTCAAATAATAACAGTAGCTATCATTTATTGAGGGTGTTAGATACTCTTTCATTACCTAATCCTAACACAAATTTGCAAAGTGCTTATAATTAGAGCCATTTTACAAAGAGAAGAAAATAGAGAATCAGGGGTCTGTAAGTGACTTCTCCAAGGCCACTGCTACTGATTTTAGGATTTGAGTTAGAATTTTATTACAAGTTAGTTTGACTCTCAAGTCCATGCTCTTTCCATTGCAACGTCCTTCTTTCTTTTGCTCTATTTCTATTAAATTTATGCCAAACAATTTTAATATTGATAAATAAAACTTTCACTTGGTAAAGGTACCAAATATACCACATGGTTCAGGAAACTCAATGAAGCTAACCATCTTTCAATAATAGAAACTATTATTAACAATAATGTAATATTAATAAGCAACACAAGTTATTATTAATGTCTATTATCTACTGATGTCACCAGTACCTCCTTAATTTACAGAGATGTAGTTACAGATATCTGAAGACTGACTGATCTGACTCATCACTGGTGTCGGCCAACAGCTTTTGGCAAATTCTTAACCCAAGTATCAAATAGGCAGACAGAGAAAATTGCAAGCACTCAGTTTCTAAAATATGTTCATATGTTAATGCTCTCTGAATAATTTCCTACATTTGAAATCATTTTTGAAAAATCAAAACTTGTGTCCTCCTGTTTAGCATGCAGTGGCATGACAAAGAAACAGCAATAAATGATAAAATTTTTTTAAAGAACCTATTCTGACTTAAGAGAACTCAGAACGAATGAAAACATACTGATATAAAACATTTATTTCATTTATTTCTCAGTTTCTTATGCTAGTTATTTACCTGTAAATAATTTGCAAATTAGAGTCAAATGTTTTAGATTTTAGAGGAAAATGTCATGGAGAAAATAATAGAATTGGTATTAGATCCTTGGAAATGGGTTGGTAACTGTTCCACAGTTGTAACATCTAACCATTTAGAGTCTGTAAAAATCACATATTTCAAACGTCATCATTTGGAACTAATTTAGTATCAAGATGTTTACTGCACTCAATATTAAAATACTGTTTTTTTGTTTGTTTGTTTTTTGTTTTTTTTTTTTAAAGCAGGGTCTTCACTCTGTTGACCAGGCTGGAGTGCAGTGGTGCAGTCACAGCCCATGGTAGCCTTGAACTACCCGGGCTCAAGTGATCCTCCCACCTCAGCCTCCTGAGTAGCTGGAACTACAGGTATATGCTTCACGCGTGGCTAACTTTTGTATTTTTTGTAGAGACAGGTTCTCACCATGTTGCCCAGGCTGGTCTCTCACTCCTGGGCTCAAGCGATCTGCCTACCTCGGCCTCCCAAAGTGTTGGGATCACAGCAGTGAGCCACTGTGTCGAGTCTAAAACACTTTTTAAAAGAGGAGTGGATTTGAATTTTAGCATGTGTATCTAAAAATGATTACTTTTTGGAGAACAATATATTTTAATTATTAATTTAAAACTATTAATTTGGAACACCCCAATAATTTTGTTCATATTTTAATCAAAACACAAGCTTTGAAAACAGGTTTCCCTCCTTGCCATTATGTCCTGGATTTTTCTTTGGTGAACACACTATCATTCTAGAAAGTCAAGTTCTCCTGGAATAAGAAAAAGAACAGATCTTACTTATATTGTTTATCTCCATAAATCACCTCTCCGTTAATGTCCAGTCAGGGCTGATCATTTCTTAATTTAGAAATGTTGAATTTTATGCTATGAACTTGAATAAATATACATTGTCCTTAAATTCATAGGTATATGTTTTTTCTGTTTTGTTTTGTTTTTTTAATTTTATGATTATTATACTTTAAGTTTTAGAGTACATATGCACAATGTGCAGGTTTGTTACATATGTATACATGTGCCATGTTGGTGTGCTGCACCCATTAACTCGTCATTTAACATTAGGTATATCTCCTAATGCTATCCCTCCCCCCTCCCCCCACCCCACAACAGTCCTCAGTGTGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCACCTATGAGTGAGAACATGCGGTGTTTGGTTTTTTGTCCTTGTGATAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTCCCTACAAAGGACACGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCGTTGTTGGACATTTAGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCTATAAACATACATGTGCTTGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCACCACACTGACTTCCACAATGGTTGAACTAGTTCACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGTATTTTTTCATGTGTTTTTTGGCTGCATAAATGCCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTCTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAAATGAGTAGGTTGCAAAAATTTTCTCCCATTCTGTAAGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTATTGCCTGGGTTTTCTTCTAGGGATTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAATCCATCTTGAATTAATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACATAGGGCTAGCCAGTTTTCTCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGGTTGATATCTCTGTTTTGGTACCAGTACCATGTTGTTTTGGTTACTGTAGCCTTGTAGTGTAGTTTGAAGTCAGGTAGCATGATGCCTCCAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCGATGTGGGCTCTTTTTTGGTTCCACATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTAATTGGTAGCTTGATGGGGATGGCATTGAATCTATAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTGATTATTCCTACCCATGAGCATGGAATGTTCTTCCATTTCTTTGTATCCTCTTTTATTTCATTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCATGTCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACTCGTGATTTGGCTCTCTGTTTGTCTGTTATTGGTGTATAGGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTTTGCTGAAATTGCTTATCAGCTTGAGGAGATTTTGGGCTGAGATGATGGGGTTTTCTAGATATACAATCATGTCATCTGCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCCTGGAGGCATATGTTTTCAATGAATTGTAGTTTAGTTTTAGTTAAACTGCAGTGGTAATGCAGCAATTTAAGGAGTATTTATGTAGCTTACAGAAAGAACACCCATATAATTTCACTTAATTTTATGCACACTTCCGATACTCATTATTAGTATATCTACCATAAAAAGTAAATGCAATTTGAACTTAAAATACTGATTTTTAAAAAATTAACTTCTGGGCAGCTTTGAGGTTAAAAGCATGAGGCTGAAACTACTGGCAAAAATTAGGTTTGAAACTACAGTTATCTACAGATTTCAATTATATACGCTACCCTTTTCTCCATTACCCCCTAGGAAACTGAAAGTTGAATATATTAACTTGTTATATTATCTTCACTCCAGAAGCTTTTACAGACAAGTTTGAGCTTATCTATTACTTGTGAATTTTAAAAATGTAGACATTATTGCGTTGACATCCTGGTTTCAATACTTGGTAATTTTATCTGTTTCCTCTCTCTCTCTTTCCTCACCAAAACTTTACTGTTCTTTTGCATTCGCCATTTTCAACTCTTCTTGAAGAGAACAAAAAGCTCACTTACCACCTCACCTCCCTTCTACTAAATAAAAAGAAGCAAAACACATCATTTAATTGTAAAATATGAACCTTCATATTTTAAATATTCCTGATTCATTATAAGTTCTTTACTCAGTGTGTCTGCATTCTATTTCAGAGTTCATAAAACTCTGTGTTTTGTATATTCACATTCAAATGTCATCTTAGAATCCTGCTCTTTGCAATCATGAAAAATACCACTTTCCATCTGTCTGGACAAATCAGAAGAATGGATGCTCAAAAGATATTCATAAATGATGAGCTTGCTTCTGCACAACATCATTAAGAAATTATTATACTGATAGAAGGAGACTTTTTGGAGATCCTGAAAAGGCAAAGTTTTATTTGACACCTAATGGACTTCCATTATCCATCGCTATTTTCCTGTTTTCACTGTTTATTCACTGCTCCCCTCCTCATACATTGGCATACAAGCCATGAATTTGTATTTTTAAGTTCTCAAAGCAGAAAATACCAGCTGAAATATTAAACCTGACTTCCCTTGTTTTTGTGATACATGCAGGTGATTCAGCATCAATGGAATGATAAATAATTAAATCAGCACATTTATACAAGAGCAGAGACAGTGGTGACTTGCCAGGGTTAAATTAAATGGTACAAAAATGCCTTAGGGCCATTTTAAACAAGAGATTAAGAAATGCAACCTAAGCCAGCAGGGGAGAGAGACGATGTTTACTTTGTCACAAACATCAAGTAGTATGTCACCTTGAATGCTCTTGCAAGGTTATTTCGGTAACCAAAGACATTTTTAATAAAGCTACCCTCTCCAGTCTATGGGGTGGTTTCTATAAACTTTAGAAATAGGCTAACACTGGATTAGTAATATATTCCATCCCACAAACATTAATTGAGCATCTAAAATATGTCAGAGACTGTTCCAAGTACTGCAGATACAGGATGAACAATCTCTAAAGTAGTGTTTCTTGACACTGGCTGTCTCTAAGGATCACTCTCCTAGGAACCATAAATAATATCAATATATATCCCAGTCTCACCCCATTGAGATTCTGAGTCAATGTATCTGGGGTGGGACTAGGCATCTGAAGTTTTTCAAAGCTCCCTCAGGTATTAAATATTCAGCCAGAGTGGAGAACCATAGGAGGTGCTGGGATCCCAGATCCTCTTAGAGGAAACACAACAGTACAATAACAGTGCAGCAGTAGGACATACAAAATGAGGTGGTGTCTTAAGTGCTCCTAACTTTACCAGGTTAGGGGGTGGGTAGACATCACAGGGACTACATCACAGAATAAGGGACAAGGTAGGCTTCACCAAGGAAGTAATGCAAACATATTTCAGAATTCTAAGTCATTATAGCTAGCTAACAATTTTTGAACACGTATCAAGTGTCAGGTGCTCTTGATGGCACCAGAAGCAGTCCCCAGAAGTAGGTGTTATTGCACACACATTGCCAATAAGAAAACTGAGATCAGGGTGCCTGCTAAAAAAAAAATCACAAAACTTGTAAGTGGCAGGGTTAGAATTTGAATCCAGGCCTCCTGCCTCCAACTCAACACAATTTCTAGGGGGAAAAAAAGTAATGGATTTAGGTGATTTCAAAATTTTAATATTTCCAGAAAAAAAGATGCCAAGAAGGGCTGTCCCTTGAATTGCTGAAGACAGAGTCAGCTTTTATTGCTCGTTTGTCCAATACTATTTTTATATAAAATTTCCTCTGGGGTTTTCAAAATATGTGCATATTTTACTTTCTTTTAAGTTGACCTAGTAGAGATCCAAACACAGCAATGTCTTACAGAAAAGCAATTTTTTCTTTAAATTGAATCCAATCTGTGCCCTGGAGAGATTCAGGGCTATAGTGATCTGCACATGGCATATCTCCATAACACCAGGGCCACCAGTGACTTTCTTGTCCCCCTCTTAGCTAAGCCATAAGCAGAAGGCCCAGGCAGGAGTTAACTAATTAGTCATTTTGTCCCAAATGTTATAAATGGTTGTGCTAAAGCAGCCCAGGTTCACAGTTCTTAAAAGTATTCTTAATATTTCAAAGTGCAGGAAACAAGCTGTATCTTGGTGAAATACCTTTATATCTACAATGCAAACCAGCCTTTCGAGACCTTTTAGGGAACATTTCAATTATAACAAACCTTATCAAATAAGGAAAGGACATAACAGACTAGAAGTAACTGTTTTATTCAATAAGAGGCAACTATATTTCATATCTTTATTAATTGGAGTTTTACATGCCAATAAACATTCTCATCCTAAGATCATATCACTCAGATGTAAGACCTGGATATTTATTTTTTTAGTTTAAGCATTGTTTTAACTCATGATGTTCTCTCTGCCTTAATGTTCCTCTCGGTTCTCCCCTTATTGTACTTTCCTGAAGTTTCTAATTGAATATGTGCTCTCACACATCTCCAAACTATTCCAGACCTTCTTTTCCTCTGCCTTGAGACATTTATATCTCGAGCACATAAACCACCCAGGCACCAAGCAGATATCAGATCTAGAAGGTAGAATTGAAATTTTCCAACAAAGTTTTGGCTGTTGCTTTAACAGGGTTCTCTCCTGCCAACACTGACATCCCTGGACTAAACCAATCTTCACACCTATCAGAGAGGCAAAACTATCAATTACACAAGCACTGTTCTTGTAGGCAAGAGACCAGGATCCTCATTCTTCTTCATTGCTAACTAACCACACAGACATTGGCAAATTACTTACTTCCTCTGACTTGTCTGTCTCCACTGTAAAATTGGGGCTAATAATGCCTTGCTTGCCAAAAAATAAGAAGCTGGTTCAGATAATTTTTATAAGATCTCATCCAGCTCCAAACTATGACCTATATATCTTTCACGGGACCAAACCCTTCTTAGTCTGATGCAAAAAAAACACAGTTTGGGCAAAATGCAGAACTTCATTTGAAAGTGCTGTGAAACATGACAATGGACTGATAGTAACCACCTGATCTAAGTGAGTTAAATATATTGTACTGCTAATCCTTACTCATTATTACAGGTTATGTCCCTAGTCCAAAAATCTAAACTCTGAAATGATCCAAAATCCAAAACTTTTTGAGCACCAACATGATTCTCAAAGGGAATGCTCACTGGAACATTTTGGAGTTCAGATTTTTGGATTAGGGATACTGAGCCAGCAAGTATAAATGTAAATGTTCCAAAATCCAAAAAGCATCCAAAATCCAAAAGACTTCTGGTTTCAAATACTTTGGATAAGGGATACTCAGCTTGTACTGTTAAGATTTCTATGTGCTTATGAAGAATGTACAAGTGTCTGTCTCTTACCTTTTGACTTCCGGTCATGGTATGACCTGCCTCGATACCGAGGGGTGTCCAGATACATATTCTCAAGATCTTCTTGCCATGACTCTGGATTGAAGTACTTGAGCAGATCTTCCACTGTATCAAATTCTGCAATTTTTTTGTCCAGAGCATCCGCAATCAGAGTGGGATCCGTTACTGATGGAGAGTTATAGGATACCCCCTAAGAGTGACATACAGCTCAGTGTACTCAGAATAAGTCCATTGCTGTGAAATACAACAGTCATTCAACTATACGGAAGGAACATAAACAGGCTTCTGAGTATAAGACATCATACGTTTGAATGCTATGTAAAAACAACATGGTATTGTCTTGCCATATTCTTGGATAAAAATCAATTAATTACTAAAAAGATAACATTCGCTTTTTTGTAAATCAAATCCAAGTAGATCAGAAAACTTCCAGTTTATCTTAAGTGTAATCATCTAAAAATATAGAACGAGATAGAAATATATAAAATTAAGTTATCCAGTTTCTTGGTTCATGGTCCCAAATCATCCACATAACAACAAATAATAGTGGGAATCAAAATTTCAAACTCCTTCCACATTAGTTTTGATAATTAATTCCACTCTCCCACTGTTAAGTTCCACATTCCCCCTTTACAGGTCACCTGGCATTGCAGATGATGTGTGAGCAATGTACGAATCTACTCTGGAGACATTTTCATAAAATTTAGCACTTTCACCAACTTATTTACTGTCAACAAAGATAATTAGCCATGAAATTGGCTCTCTTGACTTAAAAGGAGAGGATTCACATGGGGAACATATTTTTTTAAAGTGCTATAGTTTGCTAGTGATCCCAGTTGCCATTAAAACTTCTCAGGAAGACTCTTTAAATGAGAAACACAACATCATTGAAAGCCTGGAAAGGATTATGTATTTTGCCATGGAATACATGGCACATGAGGTTTCCAAGCACTTACTTCACTAACCCTTGTACAATCTAGAGGTAAATGAGCCATGATTCAAACATCTCTGTTAAAATTCATGACCCATTAACAAGGAAATAGAGAGCATACAGCCTCAAATGATTTTTAAATGTCTTTAAAGAAACTACCAAACAAATAAGATTCCCCAAAGGCAAATATCTCCTATCACTAAGGGAAAATAGGAATTAATGAAAACTTGCTTTCCTAAGATTTGACTGTAGTATCTAATCAAGAAAAATTATGTGCTATTGAGTCCCAGACAGCCAAGCCCACAATTTATAACCTTACTCTCAGGCAATGTTGTCTCTCTTTAACCAATCAAGGTCCAAAGGTTGCTAAGTGATTTGATGATCATCTGCTCTCAGAGTAACAGTCCCTCTTCACACAAGTAAGAGGCTTTAAAGCATTAATCTACCATTGGTATAACTCAGGAGCAGTTTTCAAATATTCCCTGTAGGGAAAAGGGAGTCAAGGGAGTTGGGTGAGAGGGTGAAATAGACCGATGAATGTGTCAGGCCAGCTCCATTTTTTTTTTCTTTTACAAGAAACCATACATCTAATTTTCAGTCATCCTTGTTAAAATAAGTTCTGAACAAACCTTTCCTGCCATGCTACATTCATTACCTTATGAGTCCACTCTGTATTCTGTTCAGGTGTATCCAGGTAATAATGATCATTTATCTGGAGGCACGGTCTTTGTCATACATTACGGAAGAATCCAGAGATTTAATCACAGTTCAAGCCATGTTAAAGATGTCCTCTACAGTCATATTGTTGATATTATATAGCTCTCATCTGGGTGCAGCCATATTTGTTCCTTCTGTTTCTGATAGGTTGTCCCTTTAATCTACGTGACTGTGTGTGGGTGTCTGTGTCTGTGTGTGTCTGCTTGATACGAGCTGAACCCTGACTGACACACATCATTTCTGTCTTTCACATCTCTCTTGAGGTCACATGCTAGAGGTGGAAGACTTATAATTCAGGACTATAATTCCAAATCGCCATTAACTTGTATTGTCGGATAATCTACAGTCTATCTGGCTAACATGCACCAGATGGTTTACAAGCAGCCTTGTGTCACAATAGTGTGGTTCTAAGAACCACAAAACTCAAAATGAGCTGACGAAATTAGAAGCATGGCAGCACATAAAAAATCTTTGAAATTAAAATGCTTCCCTCATTTTTGAAATAAAAACAGGGACACCGATCAAGTCATTCCCACGCCAGTGAAAGCTTCTTGTGACAGCTCTGGGGAAAGTGGCTGCATGGAGTTCTCCAGGGTGGCTCCCAGCAGTGCCTAGAATGTAGTGTGTACACAGACATCTCTCTCAGAGAAAGCTGTGGGGAACTCTCAGTCCCTTAGAAGGGAGGGGGAAATTTAATCTCTTCTAACATGAGGCTGAAGAGTCAATCCAAACCATAGGTAAAATGCAAACATGTCCCTATGTATGAGCTTTACTGCTGTTTTCAAGTTTTGATTTAGGGCAGTTGACAGAAACAACAACGACAGCTGAGGAAATATTTATGAATGATGAGGTGACCTAATAAGACTACAAGAACATTTTGGTTTCTGAGGTAAATATTTTAAAACTATTTTTGAGAAAAAGAACTAATTTAATGTGTCTCCTTCAGCTGAACAGTAAATATGATTTCATTCAGCTTTTGTCACGTATTTATAAAAATCAATTCTGAAGTTAACTGCATTAATTTAAAATGATAACAATTTGTAAAAAAGAAATGCTCTGGAAATGCAAAACCACTTTCAACAAAAACAAAGTATGGTTTAAACAGAAGTCAATGGTAGGTCCAATGACCCCTGCTCCTGCTCCAGAAAGTTCTTGAACAATGGAGTGCTGAGTAAAGAAACTAGCTTGGTCTTACAAGAGAGTTAAGCAGCACCTAGACTTGAAACTCAAACGAGAAGCTTTTGCAGTGGATTTGGACCCAGGGAACTTCCCCAGATACTCCAAAAGGATGAGACAATGCCTCTCTTTTAAAGGACCTGGGTTATTCTTAATTTGTTGAAGGTCCTTTAAGGCTTGTAATTCTGTGGTTGGAGCAAGAATCATTAGACAACCCTGAGCTATCATGTCGAAGGTGCCTGAGAAGCTGCAGCATCCCATGACCCTCAGTCAAGGTTGCAAAAACTGCTGGTGTCTGCCTTGAGTTATCAGCCTCTACTGTGACCCTCCTGCTTAGCCTGAGCACCTCTTCAGCATATCTGCCTTGTGTTGACTTTCATCTAATTGATAATGATTGCCTACACCAAGTTAGGTTCAGAGCATGTATTCTGGACTGTTGAAAGCACACAAAACACTTATTATCACTGTCAAAGATCTCTCCAATCTTTTGATCAGATGAGGTTCTAGTCCAGCATCCATACCAGGTGAATTAAATAGCCACATAATTCATAGTGGAGGGAATCCTGCCATATGAAAGAGTTTTTAAAAAATCCTCCAGAGAGCAAAAGATAACATACCAATTTTAGGAAAAAAAACAACAACTCTGACTCAGCCACACGGACCTACTCAGAACCATGGGCAAGCTTTCTCTATGTTCTTGACCTTTTAGTAAACAACTGCATTTATTATCTTGTATTTTATTGCTACATAAGTGCCACACATAGGATTGGTGAAAACAAGGTCTGTTCTTTCTGTGCAAAGTAGATAAGGAGACTGAATACTGAGAAATGACTAAGTTTAGAGAAAAACTGGAGCATGAACCATTTTACAGCTTCAGGGTGAGTTATGTTTTATATCCAAGTAAAATAGAATACATGCCTGATTTGCACTTATTATCTTACTGTAAACATTGGGATTTTTCAAGTCTGAAAAGACCCTTGAAAATGCAAAGGTTAACGTCTTCCCCAGGAATATTCGAAAGCTATTTTGAAATTCCCCACTTGAGTGTGGGCCATGAACTAGTTTGATATGTTTGATATGTTTGGACAGACCTTTAATTGGAATGCTCTGCTCTGAAAATGAAAAATATTTAAGTTATTACCTAGTGTGAGTTCCTACCATGCTATACTGGCAGTTCCTGGAAACATTTCTGACAGACAGGGAAAAGGGTTTCTGACATAATCCATTGTAACCTGAATGAAATGGAGAAACACATCCTGTTTGAGATCTAGCTTTTGATCAAGCCACAGGTCCTTAATGCAGGTGAAGTCCTTTTGGGGTTGACCTTAGCTGTTCCATCCGTTTCTTTTGCTGGCAACAGAGTAATAAATTACTTACTGAAATAGAGCTTGTGACAGATTCCCAGTTGGTCTCTGAAGCTGCTGCGGGTTGGAAATCTTCCTGGAAGGCAAAGAAACATCTGTGAGTCAGTCAAACCTCTGTTCAATTCATTATGTGCACAGTTTCAACATCTCAGCCTTCTGAATCTTTTTCCAACTAAGTGACAACAGACATAGGGCTATATTCCTGCTGAACAGGTCACCATTTGTCTTAAGCACATCTCCTCAAGAACCCTTCTCATTTAAGACATGGACATTTTCTTGTAAGTACTGGTGAAATGGAAAAGGCACAGGAAGGAATGCAAATTTTAACTTGGCCATCTACTGGCTGTGTGACCACAGACAACTGACAACCCCTCCAGTCCTTCCTTTCCTCAGCTAGTATGGAATCCTTACATTATAGGGCTGTTTTAAGAATTAAATGCATTAATTATGTAATTACCAATGGCACTGAATAAAGTGTTTGATAAAGAATAATAATAATTATCATTATTGACATATAGTTGGTTTAAACTAGGTTACGCATTATGTTCAATCTTGCCTGCTGACCTGGTCCAAAATATTGGTGATCTTTTCAACGATACACTAACTTCCAAGGGGTTGTTCCTGACTATATCAACAAATATAAGGAAGGATGGCAGGGGAAGAAAATGACTGGTAGTGACTAAGTACTGCCCATTTGGGGAAGGAAGGTCAAGGGCAGACTTGAAAACATTAGTTATCTCAGATAAGCCTTAGTGGATGTGTGATAGCAATAGATCACACAGAAAAAACTTCTCTTAAAAGGCAAACTTGTCTCCCATTTGTATGTGACCTCCATGTTAATTACTACAGCACCAGGAAGTTTAAAAAACATTAAGGGAAGGAAAACTAATTCTGTCATTTTTACAATCCACAGATGGCTTTCTGACCTTGCTAAAATAAATCACTTTAGCAAATATTTTCCAGCCTTACCGAGGAGTGGGAGGTGTTTTGAGAGGATGCTGAGAAATGTTCAGCCACTCTAGTCTGACAGCTTATTTATCCAAGTATACCTACTGAATGAGAGCTTAGTATCAGGTGTAAATTTCATTAACATTTTGAGGAGCTGGAAGTACATTTGTTAATTGGTTATGATGAGGCTGGTTTATATATAAATTTCCTGTGTTTAATAAAATTTCAGCTGATTACTGAGAGAGAACCGAGTCAAATGCGGGGTTCAAAAAATGAACAAATATTAGAAACTGACTAGATGATGGGTTGATAGGTGCAACAAACCACCATGTATCCCAGAACTTAAAGTAAAAAAAGAAAGAAAGAAAGAAACCGACTAGACATCATTATTTTAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTGAGACCGAGTCTCACTCTGTCACCCAGGCTGGTGTGCAGTGGCGTGATCTTGGCTTACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCTAGTAGCTGAGATTACAGGTGTGCACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGACTGGTCTTGAACTATTGACCTCAGGTGATCTACCCACCTCGGCCCCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGGGCCCGGCCTCGTTATTCTAATCTTAATCCTAGGGAAGATAGAAAAGAAGCAGGAAATGTGGTATCTGCACTCTGCAAAACAGAATAGACACTAAAAGGACACTGAATTCCCACAGCGGGAAGATGTGTATAATCAAATGAAGGCTGGCATTTATATGAGTCTTCATAAGTCGGTGAGCACATAAGACTAGGCAAGAAGCCAGAGAGCCAGTGGCTTCTCCATTCCTTGATGAGACTATTGGTGGAGGACATATGCCAGGTATGGTAATGACAGGAGCAATCCTCACATTACAGAATTTTCATTTTCCCTTGTTCATTCAATATTTGTTAATCACCTGCTATTAATACTTTCTGAGCTGTGGGTAGGATCATGAGGAAATAAAAACTATCCCTACCCTCAAGGAATTCGAAACGTAAACACACAAATAAACACGTGCAGTAAACGCATGTGGGTGCTCTGATACCAGTCTACTCAGCATGCCATGGAAGGTAGTAATAGGTGGTTGTACCTGGGGAGAAAGTGGGCTTGAAAAAATTTCACATAGGAAGCTGATTTGTTAGTAGAGTCTTGGAAGATAAATAGTTGCTTCTTGCAGAAAACGCGGGTAGAAGACTCAAAGGGAAAGCAATGCTTAGACAAGGTGAGGAAAGTATACAGAAAAATAAACAACTTACTGGGGAAACTATGAGTCATGTTGGGCATAGTGCGTTTGAGAAGCCTACACTATGTACAGATGGAGATGTTCGGGGGGAAGTTTGCTACATGAGAATGGACCGCATGAGAGAGAATGGACCACATGTGACCTTGAGATATAGATTTGGGAAGTATCAACACAAAAATGCAATTCAACAAAGTAAAGGGTTATGTTGACCATGTGTTAAAATCAGAAGAGGGACAGTTTTAAAATCTTGGAACTGGAAATAGTTTTAGAATTATCTAGTCCAATCTCCTTATTTAAACAATAAGGAAACTGGCCAGGAGTGGTGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAAACTCATCTCTACTAATAATACAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGCATGTACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTTTTAAACCTGGGAGGCGGAGGTTGCAGTGGGCCAAGATTGCACCATTGCACTCCAGCCTTGGCAACAAGAGCGAAACTCTGTCTCAAAAGAAAAAATAAATAAATAAATAAATAAATAAGAAAATGAATGCTTAGAGAGATAGATGATGTGTTCTGTATCATGTACCCATTTTCTGGCAAAGCTAAGGCCACCAAAGCTCATTTCTAAGTAGAAACTGTGTGGTTGGTGACCTTCCACAGTGTTACAGCTGCCTTGGATAATGTGTGTATGGGGAGAAAAACGATGAAACAGTTTCCAAAAGGGGAATCAACAGAGCAGGAAACGCATATAGTTGAAGCTGAGTGCTGGTGGGTGGTTCTATGAGGACACCCTTTGAAGTAGCCTTAGTTATTTAGATTTCATATCTATCCTTAGTAAATTCTGTGATTTCAGTTCATTTCCTTGCATAGACACATGGTAAAAATATTTTGCTAAGATTTTTTTAAGCAGAAAGGGACTTTGGTGCACAAGCCCCTAAACAAATGTTACACAAGAACTTTTAGCTTCTTCACTGTCTGGGCTACAGGATTCCAGTTTGAAATTTTAATAAGAGCAAATGATAAAAGATTTCATTAAGTCCCAGATAAAACATAACTTTATCTTCTCTTAGCAATACAAATGTTAGACACTGAAAAGAAACCAACTTTTGTGTTACTTCAGAAGTTTACCATTACTTATAGATGACATATTTAAATTAAGCTTATAAAAAGGAATGACATCCCTTATAAAAATAAAACACCGAACCTCCAAGGTTTTAGCCCTGAAAGGAGAATCTTGGCAATAGGGAGGATTCACCTGCTAAATCCACAATATGATTATTTCTCATCTCTTCCGCCATAACCTCCTAAGTCCACTTAGAAACCAGCAAGTTTCCCAACTGCCTGTTAGCTCTTCCCCTAGGGTCAGAATTATCTCTTTTAATGGTAAATCAAATCACTTCTGTCGTCTGCTTAAAACCTTCCAATAGCTTTCCATTGCTCTTAGAATTTGGCAAAATAAGATCTGACTACCATTTGCCTCTATGAACTTCTTTCCTCTGGTGTCCTCTGATTTGATAACCTACCTTTCCCACTACCTCCACTCCTGCTACACTGGCCTTCTTTCAGTCCTGCAAATAACACGACAAGCCTCTTCTCCCCTCAGGTTTAATTCACTGCTGTTCCCTGCCTGGATGCACTTTCCCCAAACGCTCCAATGGCTGGCTCCTCATCATTTAGTTCTCTGCTCAAATATCTAACATCTTTGAGCATTCTATTTAAAATACTCCCACTCTTGGTCACTCTATCTACTTAACCTGCTTAATTTTCTTTAAAGCATTTATGGTTATCTGAAATAATTTTATGTTTGTTTTATTGTTGATTGTCTCTTTCCTCAAGTGAAATCACACTCCGGAATGGCAAAGATGCTGTTTATTTGTTCTTTACTCTATTCCAAGTTTCTAGCTGAGTTTTTAGTATATATTCCAATTTCTCTGGCTCCCAGTGTATACATAAGGATAATGATCAGCTGCTACTTGCTAGTAGCAAGCCAGTAGTTTACAGCCAGTGTCCATTCTGACTGGTTGGTCCCTATGCCATACTATTTGTTATATACCCTTAATATTATCCTGAGCAGACTGCTTGATTTTCAACCTCCAGACAAATGCAAAACAAACTCCTTTTTGTGGGTGCTCTCAGCAGAACAGTGCCCTTACCGTTACTTTAAGAAATGCTAAAATAGAACAAACAGTGAATAATCATTTAAAATTATATTAACAGTTTAGTTTACAAAGAAAACATTTCTGTTCTTTGGTATAGAAAACTTACATAAGTGCTTTTCAAGCAATGTCTTATTATTCTAAGAGGAGATAACTCTCTACTAGCTCCTAGAGGCTGGTACACAGCTTTTGACTTCCTCACCTCCTGCTCCTGAACTGTAGTATCTTCCATCCTAAAATAAAGGAGCTGATGTTTTAGTTACTTTGGTCCTATAGTCCATGTAGGGAATCTAGCACTGTGATGCTGTGTGTACCTTACTGTACCTTATAGAGACCATCTGGGGGTCTGATATGAGCAAACTGAAGTTCAGAGAGCCAAATGAGTTGTCCAGCATCTCCCAACTAATTATGACTACAGTTAGGACTAGGACCCAATTAGCTATTGTGCATCTCTTAGTTACATGCTCTTTCCAACCCACCAAATAATGTTATATATCATTGTATAATTATAAACATCTCAATCTGCATTGCCTTAATTAATAAAATTAATTTATACCATTAAAATAATTTATCCTCAGCTTAACTCCTCACATTAAAATAGTTCATAATTATATTTTGGCAGTGAAACTAATCATTTGGCATTTTGAAACAAAGCTCCCTCATTCTCTGCATTTTACTATTAAGCTTTGGAACATAGATATGATTCTCAAATCTTCACTTTCTAAATAGTTTAGGATGCACAGTTTGGTTTCTATGAGAAAAGTGTTACAGACTCGAAAGTTAGGGAGATGTGTACAAATAAAATCTTAAAGTGCTACATGAAAACACAGATAAATATTTATGTAAGTGTAGTGTGGAAGAGATATTTCTAAGCATAAATGCTAAAGTCAGAAAGCATAAAAATCGATACACCTTATATAACATTTTGTATATATACAAGATGTGTACATACAAGATGTATATATACAAAATGTATACATACAAAATGTATATATACAAAATGTTATATAAATCTAAAAGAGATCAAAAACAAAAGTAAAACCATAAGGACAAGCTAGTAAACACACTTGTAACAGATATAACAGGTAAACAGTTAACATCCTTAAAATAAAATGAACTCATAAATCAAAAGCTTATACAAGAGTATGTTCCATATCATACAATATTGCTAGAAAAAAATGTACAGATATATGAATGAAGCAGGACTGAAAAAGTATTCACAAAATGTTGATATTGGTTAGCACTGACATATTCTTATTTTCTTCTTTTTGTACACATGTTTTAAAATGTCATAGTAAACATCTAGTTTTAGTAAAACAGTAAATTTCTAAAACTACAATGGAAAAGAAAAAATGGACTGGATGTGTGTACACATATTACATATTAATATGACAGACAAGACTTTAGGGGTAAATGATCACAAATCATTTATCTGTACTTAGCACAAATCAAGAAGGTTTATTTATCTCATAAAGAGGATTCTTTATAAATGAAAAGAGGAATTATTCAACATTTATGATATCATTTATTGAATGGTGTCACCCATGTATTCCCTGGTAGGAAATAAAAGTGTTCTTGTAGATACGTTTCTCACCAATTGCTAAAAGAGAATTGTTCAAAGACTGGACTACAAAGCGTTCTAGCATGGTCACATTTGGCTCTACTAAAACATGGCTAACACAACACAAACTTTTAATGTCTTTAAAAGCAGCTATGAAAACATGCAATGAACCATCAGCTCAGGGTCAGTCAGGCATTTGTCAGGCTCAATTTGAGAACAATTTACCCACTGAATTGTGCTATATGGCTGAAAGCAAATATAGCTGGGGCTATAATAACATTACAGGTAATAAATGTTGTCAACAACAATCCTTGCTATTAAAGAATAAGATATGAGTGGGAATTTCCATTTTCAGAAAGGGTTTCTCCAGAGAAACTTTCTTTTCAGATTCCTTACCATTGGATATCTTGGGCCCATGCCAGAGAGGACAGTTGATATATTACAAGCTAACAAACAATCCACTCATTCATTCAGCAGAGCAAGCCTGCACATATTCAACCACGTACTGAGCACCAGCAATGGATGTCCAAAGAAATCCCTCTCCTGTCCCTTGATACCACGTGGAGCTAGAGACTCTTGTCCTTTAAGTCTTTGCAGACAGCTGTTCACAGACCAATACTTCAAACATTTGGGATGATTAGTTGTACCACCTGTTCCTGGATCTCACGGAGGGTGGCTGTTCATTTTTATCCTAGGTGATTATGCTTTATTTGAGTAGATAAGCCATAAACTATTCATGGCTAGAGGGATGTGTTTCACCAGCACTTAAAACATATGCAGTTACTTGGGAGTTTTTAAAAAGCTTTCAAATAAAACAATCTTTAACTTACTAAGGATGACTTATTTGGGGAAAGTTTTAAAAGACATTTGTCAGTGTATTTTCTGTCATTCTGAAAAATTTTATTCTATTTGCTGCTTTATATTCACTTCTCAGAGGCAGAAAATAAAGAAATCCCTCTCCTAATTGTATCTGTGCTTCTTGATTGAGTTAATGCTTAGAGCTTTTGAATTTCTAAATGCTTAATGCTTTTGAATTTCAAAAGAAACACCTCTAAGCATTCAAAAGAAAGACAAAGGGGTTTGTTAAGATTCATAAAACAGTAATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAGTAATGAACAAACACATGATCAACATCCATTCTTTCAACAAATTCTAAGTTTGTTCATGACACTCTGCTCTGTTCATGACCCACTGAGGGAAATCCAAATAAAGCCAAACTTGGAGGCCTGTGTCCTGGGATTACTCTACAGGGAGATCCTTTTGAATAAAGGCTTTTGATGCTTCAGTACCTGATTTTCTGGCATGCAGACCCAACAATGTTTGTGGAAATGATATTACACTAATGTCTTAACGTCTACAGGAATAGAATAAAGCAAAAATTAAAAACCCTTAGAATCAATAAAACTCTGTAGCCCAACCAAAACTTAACAAGTATACTTTCTTTACAGACTCATCATCAAACTAGCTCTTCTACACATAATATGGTAAAGGTCTTGGCAGGAGGCCAGATTTTATTGGCAAGAATATTTAATACAAGGATATCAAGAGTCTAAGAATCAATAATTAACAAGAATCAAAGAATATCTCTCAAAGTTAGAGAATTTGCCTGTGAAATTTAATAATATATGTTTCTTAGAGTTACAAGAAGCCCTGGATAGGAGCTTTCTGTTATAGTAAAAATATCTTTAATTAAATAAATAAATTTTAATAAGAAATATAGATAAGACACACAGATTTTCACTGATTTAAGAGTTAATTTTATAACATTTTCATTTATCATTATTGACAATCAAGTACAATGTTTTAATTTAGAACTGCTAGGATTCATTAATCAATCATCCACGTAATCTTGGTGCTAGTGTCAAGATATTTTTAAAAGTTCATTTTTCTTCCTACATTATGAGAAAAGGAAATTTTTATACTTGTTAGTTTCTGATTTCTTCAGACTGAACTTAGTTTGGGAATTTTTTTTTTTTTTTTTAAGTTTTAAGGTACATGTGGACAATGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGTGCTGCACCCATTAACTCGTCATTTAGCATTAGGTATATCTCCTAATGCTATCCCTCCCCTCTCCCCCCACCCCACAACAGTCCCCAGAGCGTGATGTTCCCCTTCCTGTGTCCATGTGTTCTCATTGTTCAATTCCCATCTATGAGTGAGAACAGGCGGTGTTTGGTTTTTTGTCTTTGCGATAGATTACTGAGAATGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCATTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCACATAAGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTACCACAATAAACATACGTGTGCATGTGTCTTTATAGCAGCACGATTTATAGTCCTTTGGGTATATATCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACATTCCCACCAACAGTGTAAAAGTATTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGGTGAACATTTTTTCATGTGTCTTTTGGCTGCATAGATGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCACCCACTTTTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTATCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATTTTATAGTTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACGTTTAAGTCTTTAATCTATCTTGAATTAATTTCTGTATAAGGTGTAAGGAAGGGATCCAGTTGAATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATGTGGAATCAAAAAAGAGCCCGCATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAGCAGCATGGTACAGGTACCAAAACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGTGAAAGGATTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGTTTGGGAATTTGTTCTCGATATAGTAAGTAAAGATTAGAGCAAATCCCAGTCCAGCAAGCTGAGAAGAGAAGGGGGTCATTGATTTAAAAGGGGTCATGAGAATGATATTCAAGAACTAGAGAGGATCAGCGTGTTTGCAGATAGAGAGAGGGGTGCCGCATACCAAGGGGCTGCACAGAAAGTTGCAAATTGCAAAATACTACTTTGTTAATAGCTTCCATGGTGTTTGGTCATACCATGGTGTTTGGTGTATGGTGTTGGTTCACCAACCTCCATGGTGTTTGGTAAGTGAACATTTAATTTACACCTAGAGAAATACTACAGTATTTCTACAATCTGTTGCCGAAGAGCTAGGTTCAGATTTAAATTTTGTGACTAGTTGTTTAGCATTAAAAAAAAAAACTCTGTGATTAATTATTTTGCAGTAACGCCTGCCACTTATGGAGCACAGATTTTATGCCGGTGACTATATGAAATACTTTCCATAAATTATCTCATTCATCATTTCTACAGTAGCTTTAAAAGATGAGGAAGCAGAAAGACAGGATGCAAGCCCTATTATTAAGGAAGTGCCACAGATACCTGAAACCGTGGCTGAGTCTCTGTACTCTTTCATCTTTGTTGAATAATTCCTCTTTTCTTTTATAAATAATCCTTTTTATAAAATAAACGAATCTTCTTGATTTGTGCTAAGTTCAGGTTTTCATAAATTCCTTAAATGCATTTCAAAGAGAACATCTGATTCAATTCACCAGTGGTCTGAAATTTATTAAAGATTGTACTTTTGATATTGCTAAGCTAATCTTAAAGATTGTTTATACCAAGCTAAAATGAATGACTTAGGAAATTATTCCTGCACCTTAGGAAAATTACAAGTTTGAAATGAAGAAATACTGACCTGATTCATATTTTCATTTTCTTGCAAGCACAGTGCCTGGTACATAGTAAGCACTCTTTTTTGTTTGTTTGGTTTGTTTTTATTATTGTGGTTAAGAGAGGAAATACTGTTTCATGCTCAGAATTCAACAAACCATTTCACGCCTCTGTGCTGAAATTCACACTCCCAATAACTGCTAAATTTCTCTGTACTTGACTGACGTTATATAAATAGATTTTCTTCATGGTGGCCAAAAGCTAGTTACATTATTAAAACCAGTAATTAGAGAAAATGGGAATTACAAACAGTATGAAGATTAAGGCCATGTCACCAAAATCCCTTAGCTAAAATCATTATCTCTAAAAACTCAAATTATTCCATTACTAATTAAAACTCCTAAGATCTGACTTTAGGGAGAAAATACCATTTGAAGTCTAAAAGCCAAAGCCACAGTCAACACAGCTGGTACGGTTCCATGAAAAAGAGCACTCATGAAATGTTACTCAGCAAGTGATGGGATTATAATGTAAACGGGAACATTTTCTAAGAGAATCAGGAGTGTCAGTTGTAAAGTATTAAAAAAGCTGTCCATTCTTTTTAAAAATATGGGTATTTCCTAGTGAGGTGACTTTGCGTTGTGACACCTTTTCCCTCTACACATTCATCCTTATCCTTACACTGGACCAGTGTTCATTCATCAGAGCTGCCACCCATCATAATTATCATTTGGCACTATGGGCCATACTGAATATAAAATATTTAAGAGTCATGTTACTACTATACAGCTATGTAAATGAAAACAAGTAATTCAAAGTACCTTTTTCTTGACCTGACTTCTTTCTAAGGGGATTTCCAGAGTCATTTATGTGGTTAAACTAGAGAGATGGTTAATGTAAAGTCTGAAACAAAAGCATAGGACTCATACCCTTGCAAATTACTCTTCTCACAAAAGGGGAGATTCGTATATTCTTGACTTTGTACTTCCTCTTTCCACTCCCCACTCAACTAGCAACTAACTAAGGCAGCTGGCACATTTTGGATCTCCAAAGCAGGCTTGCTATCTGGGCCCATTAGGTGAACTTGTTGGAACTGAGTGCCAAGCACACAGGTCGTGAGTTTCAGACTGTGCTAAGTACAGGTTTTCATAAATTCCTAAGAATTTATGACAGAGCTGATAAAACTTTACAAAGAGAAAAAATACTGTTGCCAAACACCATGGTTAACATCAGTGAAAGAGACCTCCTGGGGGCAACTGCCTGACTCAGTCCATAGGACTTCATCCCTCCAAGTAAACAACTTGAAGTCTTCTCCTCCAGGCTGGGAGGATCATTTTGGAATAGGATAAATGGTAATTAAATGAGAGATCCTGCAATTTAATTTCTATTAGTTCATGCGTATGGGCATTAAAAATTCCTTTTTACTTTTGGTTATCATCAGTTAACAGGAACATCTTTTACTTTGACCAGTTATTACACTAGCAATATTCATCAGCAGTTTTATGAGTGAAAACACTAGGCTTTGCACAGCAAAATTTTAATCCCAGATTGGTTCTTCTTTGCATCTTGCTATAATTTTTTGTACCGTTACATCTGTGTACTTAGAGAATGCAAATTTACTGCCATATTCATCCAAACCAAATACAATTACAAAGGTATTTTTGGTGCCAAAAAAAGGATAAACTGCATTCCAGAGTGAAAGGAAAAATAGGGATTGGGTGAACTATTGCTTCTCCTCTACTGGACTGGGAAAATTCAGAGCTGACTAGGTTATTGCCCACGCCCAAGGATTAGCTGAGATATTCTTTGGACATGGATTTTTTTTGGCAGGCCTCATGCCTCACACTTACACTTTAAACTGTTATTTACTTATGTATTTATTTTTTATTCTTACCAGTTTGGAAGTTGCAAGGGATCTCATAGACTACTGAGTTCAAAGTTTTATTCACTATTTGACTGAGATTTTTGAATGACCAAAGTATGTAAGTCATTGAGCAAGGTGTTGGCTAATGCATGGATGCACAGGAAGCAAAATTGACCTTAAGAAATGTGTTGTCTAGATTAATTCTAATGTCCTACTCTTGTCATTCCTTTTTGTATCAGCAACTTTAAGTTTTTTAATGGCTTACCATTATCTCGAATTATCTTGTGTCTTAGTCAGTTGGAGCAGCTAGAACAAATTCCCATAGGATATGTAACTTGTAAAGAACAGAACTTTATTTCTGACAGTTCTAGAGGATGGGAAGTCCAAGACCGGAGTGCTGACATGGTTGGGCTCAGGTTTGCAAATGGATGTCTTCTTGCTGTGCCCACACATGGTAGAGAGAGAGAGAGATCTTTTCTCTCATGTCTCTTCTTACAAGGGCACTAATCACATCAAGATGGCTCCACCTTCATGTCTTATTTACCTCCCAAAGGCCCCACTTGTCAATACCAACAGAGTGGAGATTAGGATTTCAACAGATGAGTTTAGGGAAAACCCTCACATTCAATCCATAGCATCTTATTCACTTATTTCTGTACTTGTTTCCAGGTTTGTGTCTCTCCATTAGGGTGTAAGCTCCTTAAGGGTGGAAATGTTTTCTAACTTTCTCATTGCTCTCCCACCAAGTACCTACAACAGGGCCTGTTAACCTTTTACATTCAATAAATAGTGTTGCAATGGAAGAATGACTAGTCATTGAATTGCTGTGAGATTCAAATGAGATGAGTAATGTAAAGTCATAGCATATTGGCTGTTACATAGCAGATGTTAATAAATATTTGTAGAATGAATAAATGAATAATCCAATCTATAGAAATAAATGCTCTACTGGGGCCATAAGCAAAGCCCCATAGTTCTACAGGAGAAAGAATGATTTAAGTACATTTAGGAAGGCTGGAGGAAGGTCTCAGAAGAAGTGGCCTTGGAATTGACTTTTGTATGATAATTAAGGATTTTGATAGGGAAGCAGGCAGGTGAAGGAGAAAGCATGCACTAAGGCAGAGACTGGCATCATCTGGGATCTGTGAGTATGTCATGTGCCCAAAGTAACAGACAGGAAATTAGACTGACAAAGAAGGTACAAGACAAATCAGAGGATCCTGAAGACCACACTTGGGATTTTTTCTTAATCATCTATTCAGCGATTCATTTAATCATTTGTTCAACAGGTATTTATGGCTTCCACTACTACTGACTACACAGTTCAAGGTACTGGAGAAAAAGAAACAAAAAGAACTTCAACGTCACTGCTCTCACAGAGCTGTCATCCTGATCACCCTTTTCCTACATACAGGAAACAGCCCCAAAGGGTTAAGTGTCAGCGTCACTTGCCAATTAGTGCCTGCAGCCCAGGTCTCTTGACATACTGTACTGCATTACACTAAGTTGTAGGAAACTGGTTGTTAATATAGCCACATCTTCACCTCCTCTGCTCACATGTCTCCTTTTCAGTGCATATGAAAAATACAAAGAACATTTTTTTATAATCTGGAATTCAGTGAACTTAAGTAACATAATGGGGTTCCTAGGAAACCAACAAGAAACAACAGATAGCTATTCAGGGAAATGAGGGTGGTGGAAAAAAATTGAAGACAAGGAATTCGGTGCCGTTGGTTTGGAAAAACTTTTTGAAATGTCCATAATACTTTAAGGCAATCTTAGAATTAGGAGTCATTCCTTATTTTGGTAATCAAACCCCTCAAATGATAATAACATTTTCCACTCAAATACAATTTAGTCCTATCTTATCCCTCAGCAGGGTACAAAATTACCTTTCTTTTTCAAAGAAGAGTTAGAATGTTTTCCTGATCAGAGGATTCAATAGATGAGAATCCCTTAAGTACTTTATGATGACCCTTGAGGTTGGTCAGCAGGAATTGATTTGGAGGAATTACTAAAAGCTATGTCTAAACCCAGCAGGGATCATAAAGATGCTTGAATACAAATGGCCCTGGATGGCTTTCATCAAAGGATCTCTGAGTACAAACAAAATAAAAGCAAACTCCATGCCTGTAAATGAAGAGGAGGCAAGTTGAGAAACTCTTTTGCTACTTATCTTGCTAATATGAAATATCCTGCACTGTTTTGGATGGTAGAAAAGATTTGATAATCACCATGTGAAAACATTTTTAAAAACTGATGTTGGAGACAGAGCACTCAATTGAATTACATATGGAACACCGACTGTGTGACCTTAGGCAAGGTAAAGCCTCTATGCTTTAGATTCCTGATTGTAAACTGGGAAAAATATCTTCTTTCCTCCATAGGGTTAGTTTGAGGAGTAAATTAGATAATTCACATGAAACTATCTGGCTCAGGTAGACATTCATTACATTCTTTCCAAAATGAGTACAATCTTTCTAACATATTATTTTTTTTATTTGAAAGATGGCTATATTAATACCTCCACAGAGATGGAAATCACCTGTTACAAATTCTAGAGTCAGACTCTGCATGCAAATTCCAACTTCTCCACTTACCAGCTAGAGATCTTGTACCAATTACTTAATTTCTCTGTACCTCAATATTCTTATCTGAAAATTGAAATAATTCCTACATCAGGGGGCTGTTTTGAAGATTAAACACTTCGTGCTACCTGTAAAGCTATTAGAAAAGTGCCTGTCACATAGAAAGTCCTTAGCCTTCACACATTTTCACATTTTTTCCTTGGAAAAAATGTTGGTTGGTGCATCAAACTTACAATGGCCTAATGTACTATCACCTAGAATGTGCACTAAGATTTTGAAATTTTCTGAAAGCTTTAACACCTCCTATCTCATTTCACTCTCCCTATCACTATATGAGCTGGGTATAGGCACAGATACATTAGATAAAATAGTTTGGGTCTTCTCAAAGAGGAGATTTTTCAGGTTTCCTGGCTGGTCATTTCTATCATCATTAGATAAAAGAATGTGTAATTTCTTCTCGAGTTTTTTTCCCTGGGGAAAAAGGAAATGGCAAACAGTCCTTCACCACCCCATAATTATCTACGATATCGTTCGTACAAAAGTAGTTCCTCATCATCCCCAGCAAAGTATTGAGTGCCTACCCATTGCTAGTACTGTTTTAGGCATTGGGCATACATGGGAAACAAACCAAACAGCCGATTTGGCATGTGAAATGGGAACAGGCATATATAACAGTACTTTACTGGCTGTAAATTACCATCTATATATCTAAAGTACTGTTTTATTTAATATAGTCTTCAAAATGTCAAATAAAACATCTTAAGAGGACAAGACCTTTCTTTAGAAATAAAGAAATTTAAAGATAAAAACAATCTATGCATATGCTAGCTAATTTATGCAGGAATTTAGCTTGTTCTTGGACTGAGTCATCTTTTATCCAGCCTCCTATCTCTCGGTAAAATATTTCTACATCCCAATTAATTACTGCTGTTTCTAACTCATGAATTAAAATTTGTAATTTGGGGGCTATAAGACACTTTACAAATCATTTACCAATGCTTTCAACTTAGAGGTACTGTGTCGCCCATCTCTATGACATTTAGCCTTCTAGAGCTTCTCCCTAGTGCCCTCCCTCTGGGAGGGGTTTACTTCTTGCTCCCATGATGGCAGGCTTGGTCATGTGATTTGCTTTGACCAACACAATGTAAGTAGAAGTGATCAATGTCACATTTGACCAGAAGCTTTAAAACATATTGTATGTACTATCATTGCTCTTTTTTTTCTCTGTTATAATAATAGCTTGTCCCAGAAGGGAACTGATTCTTCAGCCTGGATTTCCAACTGAAGAAGCTACATGCGGCTCAGCTACAGGTGATTAGCAGCTGATATGTAACATGAATGAGAAACAGACCTTTGTTTCTATAAGTCACTGACATTTCAGGGTTGTTAATGCAGCATAACCTAGCAAACTATTGCTATTTCAGAAATCAGTGTCCAGAGCCATTTTCCAATGAGGCTGCTTCTAACTCATGAGAGAGCCAGGACTAGATCCCATGTCTCCTGCCTTAGTCCAGATTTTGTGCACTCTAACATATGCTTTAAGAAAAGCAGGTCCTTTTCTTGGTCACACATTTTCTTTTCCTTCCCATATCCCCTAGTGGCAAAATGTGAACACTGCCCTACCTACCCTGTGGCACCCTTCTAATCTCTATCCAACCCTAATAAAAGGAAAACCACTTTGGTTCCAGAGACAATGGATCATTTGGGAGGGCTGAGGTGCTGTCCTCTGTGAGGTGCACAGGGAGCAGGTGAGGTCCACACAGAAGACAGAATAAACAGTAGTACTACTGGTCCAGGTAGGAGTAAGGTACTCATTTACTTTGAATCCAAGTGCTACTTCAAAAGGCATCAAAATATTTGTGCTCTGAGCTATTAGATAGTTGAAGTACAGGTTAAACTTTTCATAATATTCCAGTCAGTATCATTTCAGGTGATATTTATATTTTAAAAAGATGGAAGTAGTCCACAAGGTAGTGGAGTGGGGAAAGGGTAATCACATACTAGATGTATTTGATAAACAGTAATTCTTCTTTCAACATAAGATCAATAGCATGAGTATAGGTTCCCTCAAGAAACACTCTTGACATTTAAAATAAATCCTCTGAAAAGGAAAACTTTTTATTTTATGTGAAATGATATGTAGACCTTGATATACAGCCACTGAACAACATTCACTCTGCTCTCTCTGCATTTGACGTGAGAAGCCAGGGGAAACTTATCAGTTAAGACGGCTCTTCAATAGCCATCTTTTCAAGTACTATTTTGAAGCTACAGTAAACATATACTACCTAACCATAGGATCTTTCCTTTTACATAATGGATTCATTTAGAGAAGATGTTAAGGGACTTAAGTGAGAGAAGACGTTAGAGGTCATCTCGTTAATAGTTGTACAAAATGCAACAATTGTTTATCATCATCAAAAGTGGTCAGCCAGGTGCTGTATCTTTATTTTCAGCTGCCAAAGCTCTATTTTAAAGTAAATCCAGCAGCTGTAAAAATTCCCCCTTGACATTTGAATTAGATGCAAAGTTCTGCACAATATCGTGTGCACTGCTATGTTAACAGGATATGTATGGGTAGAAAGAATACAATTGATATTCAAAGCTCTTGTTTACATGTAGAAAAGAGCACAGTACTCAAGGCAAGGGCAGCAGAGGGTTGGGGTTGGGTAGAGTTCATGGTCCAGCTCACAACGTCTATCACATTCACATACTGACCATGGTAGACTTGATCTGAATGTGCAATTCATTGCCCTTGAGAGGTCCTATCATTCTGACTGACAGGTTTAGAGGAGGCCTCCTCAACAACAGGAACACCTGCACTGAGCAAAATGGAAAACCCTGACACTTCGACAGCCTCTTGATATCCAGGTTGTGGGAAAGAAAAGCCTCTTCCATGAAGCAGATGAGCGAGGAAGCAGTGGTGGCACATGTCCCTGGTCTAGGGCTTTCTCTTCCAGGCCCAGATTCAGCAAGTTGACGGCACTGGGGGCCCCTGCCTTTGCCATTTACCTATTTCCAAATAGGACAAGGAAAAGGAGACTTATTTCATAACTCCTTATGTTGTGGGGAGAGAACTGTGTAATAACATTTAATATATAAAAGCCAAAAACTATTTGGGTCAGGCAAAAAACATCTAATTAGAGTCACTCTATTCCCAGTATGTTTCAGATGTTTCCTGATTAGTTATGGAGGACAGAATGTGGGTGGAGGAAGAGGGAAGAAGGACTGTTCAAAACACAAGAATACTGCATTTAATCACAGTGTCAGATAATGCTGGGTTAAGAAAGCTAGCTATTTGCTTTACTGATACTTTCTGTGGCTCCATTCATATTTTCTCATTTCTCCTCAAAAATGACAGTCAATTTCTACAGTTGTTATTCAGCCAATGCATATATTAGATTTCATCAAGATAAATAAAAGAAAAACATCCCCAATAGTCCTGTGTGGAGAGAGGAAGATACTATCTTTTTAAGAGCAACAACAACAAAAAGCACCATAAACTTTTATAGAAGATAAGAATATAAGGTAACAAGAATCTCTGCTCTCAAGAGAGCGCTGCATTATCCTCTGCCAACTTCTTAGTTTACTGATGGGATCGAAAGCTGATGATTTATTGTAAACGGTAAAGAATATTGCTTTTGGGAGCTGTTTTAGCCTGGACTCCATATTCTCTTCAAAAATAAAAAGGAAACTTTAAATTGGATTTCTGACATTGGTTGTTTTCAGCCCAAAATCTATTAAGTAGATTAATTTTAAAATGGGGCACCATGGGCACAATATCACTTCCAAGAGGCTATTGCTTTGTGATGCCTTCTAGACAGACCCCTGAATCGCTGCAGGCACAATCCTGATAACCCTTGATGCTTTCACTGACCACTCACTCTTCTCTCCTGTAACCAAAGCTTTATTCTCCCCAGAAAACAGTGCTTCCCCTGAGGCCTACCAAATGAGAGCTCACACTCTGAAAACCCGGCTAGGCTGAGGAAAAGTGAGGGCGGGGTGCCTCTCTTCTGGCTTCATTCAAGCACTTTCAAACCATTGATATTTTTAGTCTAATACTTTCATATAACCCCAAATATAAAAGCTATGAAAGGGATGCCACTCAGAGGCAATCAACATTATTGGTTCCTTACATGTTCGTTAAAAGATATTGTAGGCATATAAAGGTAAACTCATACACAGATACTTCCTCTCAAACTCAGGCCACTCAACTATTATTCCCTGTTTTCACTCTGTATATTGCTTCCTTTCCTGAAGTCCTGGTCATTTCCCCACATTCACTAAGGACCATGTCAACTGGGTTCCTATATTTGTCTCCACCCCTTGTTACCATCATTCTGGATAATGTCAGTGTCCTTGGTTTGCAGCCCTTTGAATCTTTGAACTCAAATAACCCTTCTTATGTACCCCAACTTCTGCAACTCCCTCTTAATCTGAAGTCTTAGATGCAAAATGCATTCTGTGACTCTGCTCTCCATATCGTTGTGTATCTCTCTTGCTAATATCTCTCTCTTCGATCTCACTGAGCCCTCCAGACTTCACCCCTCTATATTCCCACAAGTTATCAGCCTTCTATTGATCTTAGAGGCCCCCAAATTCATCACTTTGGCTTCTCTTATTAATACTCCCTTGCCACCTGGCTGTTCAGTGGCATTCACCCTTCAAAACCCCTTCTCTAGAACAATCAAGTCATCAACATCTGGACTCCTCCATCTGGATTTCTGCAGGAGAAAAATTACAAACCCAATAAACTGTGTTGCCTTTCTTCCACCCATATCTTTATTCTCTTCTTGTTTGTCCCTTGCAATCTCTTTAAAACTGTTTGTCTCTACCATCTTAAAATATTTCCTTGATTCTAACCTTCTCTCTAGGTATCAATTATTTAAATCCTTGACCCTTTACACTCAAGCTTCTTGAAACAGTTTGTAATTGTTGCTTACTGCAATTTTGATTACTCTTCATCCCATGGCAGCCTGGTTCTTGCTCCACCACTGTGATGTAAAGACTCTTACTAATATTTGTAATAGCCTCTGAATTGCCAAAGCCAACGCAACTTCTAGCCTCTGTTTTACGTGACGTCTTTCTTGCGTTAACATTGTTGATGACTCCCTCCTTAATGCCCCTCTCCCTTGGCTTCTGTAATATTATGCTCTGGTGTTCTCCTTTTATCTCTCTATGTCTTCTCTTGAGTGCCTTCTTTTAATGTCTTCTCGAATTGTCAGCATTTCCCAGCACTCTGTTACTCAATACTTGGCACCTGAGTAAACTCACTGACTTTTCTGGCTTCAGCAATAATTTATACATGAATGATGTCTGTCTCCATATCCCAGGTCAAGAAATCTTTACTGAGATCAGATCGTTTTCCCAAATTCCCTCTGGCCATCTCCTACGGGACGTCTGATAAGCTCCTTAAACTCAACAGGTCCAAAGTATTATTATCAAATTTTCCATAAAACCTACTCATCGTCGTCCTGTGTTCCCTTTCACAGAAAAATACCTTACTCTCTTCACCGAATTGTGCATATCCTACACCTGAATATCAAAGTAAAATATTCCCAAATTAATCTCTAAATCCTTCAGGTTATAATTTCTTAATCCTTCAAAGCCATATCTTCTAGTCTATGCTTCAATTCAAGGGTTCGTCATGTCTCTTTTGGATTGCTATGACAGCCTCCTAAATAAACAGTCTTTCTCAATTCTTGCAGAGCTGTAGTCGCCTTCCATTGGCCTGCCATATTGGTCTTCAAAAGCAAAATCGAAACATACAGCATTATACTACCCATGTAACTTCCAAGCCCCACATCTTTCAGAGTTTTGCAACCCTTTGATAAGCACGTAAAACCCTCATGATCTGGCTCCTGTATTCCTCTCCAACATCATTTCCAGCCAGTGGCTCATGTTTCTCCAGGCTTTCAGAATTACTTTATGCTTTGTCAGCTCTCTTAAATTTGCATAGGCTATTCTCTTTGCATGGAAAGTTCTCCCAACTCTTTCCCATTTATCTAATTCCACTTCATCATTTAGAACACAAATGAAACCACATCCTTTGAGAAATATCTTTAGGTCTGATGTAGATGCTCCCTTCTCTGTGTCTCCACAGTATACAGAGACTTTCACAGTATACTTTTTCATCAACTTTCATGCTTACGCAGCTGCCAGTATAGTGCCTGGTAAATATTGGGCTCTTGATAAAGAATGAATGAGCTCCTAGGGCATGTTGTGACACATTCTCAAATTCTTAATGAAGATCTATTATTAGCTAGAAATTTAATTACTATATTCAAATACCATATTTTCAGGTGGTGAACTCACCTCTTTTTAAAACCATCTTTATTCATATAGGTGGCTTAAAGTGAAATGTTGGCTTAAGGGTTACTATTATTTCTATTCTTATACATTTCTAAGTGTGTGACAACTCAAGGTTCTATAAAACTACTTCCTTGGCAGAAAGAGAGAAGTTACTATTTAGTTTTACACCAAGCCTGGTTTTTTTTTTTTTTTTTTTTTTTTCCTGGAAGTGGTTGAGGTATCACCCTTAACATGAATGTTAAAAAGTCCTGGGTATCAGGCAACTTATTTATTTTAGGGCTGTGTGAAAATAATATCTTCTCTATATTTTTGTCCTGTGATATGTTAGAGCTACTCCTTCAGGGGCTTTTAATATTAAAATTCAAGATATTGCAATGATTTTCATGCATTTGACTCTGCTAACAGAGTTCTTGTCTTTTAAAATTTATTCACTACCCATATTTGGCTTAATTTAGGGATGAAAAATACAGATTCTAGTAGCAATAAAATACCCAGACAATGAAAACAAAATAAAAACAGTGGTTTTTATAATAACATTAATTCTGGACCTGGAGAATACTAAAATTTTTGTGAGAAAACAAAAGGTCATCTTAGAAGACAGAAAATACTCATATTTAAAAATAAAGACTTAGAAATTTAAAACAATACAGAGTTTCCCTACCATAGATCTCCATGCCTAATCAACTTGAAAGACACAGAGATGTCTGTGCTAATTATACACACTATACATTTAAGAGAGGGGTTAAATTATTTACCTGGCAAAGGTCCTTCAGTAACTTTAATAACTTGTGCAATGTACAAGTATAGGGCCCTGGTTAGGGCAGATTTAGTGGAGTATTTTAGACATCCTTTCTATGGAAATGATGGTATTACATTAGATATACATCCTCTTTGAGTTGAGAGAACATATAAATTAGTGAAAAAAATTCTCTAAATATCAATAATTGATGCAAGGTGGCTATTACAGCATATCACATACAATAGGGAGTAAATAAGTTTTAATAAAAAGTTGCCATGACTTCTTTGTTATCACTGAATCTAGAAATGTAACTGCTTTACCTGAAATTTCGAACGAGAAAGTTCTTCTATGAAATATAGCAAGTGATAAAAAACTATGAGGCAACTGTTAAGATACTTCAAAGGTGCCAATAAGAGTGCTACAGCCTAGGAATCAATCGTGGATCTGTCCAGTGCATTGATAAGACAGAAATCAGATTACCAAATCATTTTGCAAGTACTTTAATATAAGATGTTGACAAACTTGAGGGAGCTTAGAGAAAAGCTGATTGATTAAGAGGCTGGGAAAATGACTTAAGAGGCAAGATTATAAAAACTAAATATATTGTTCATTGACTAAGGAATTAAGTACTTGATGTACAGTACATATAACATTTTTCAGAGAGTGACTTAGGGGTATATGACACAAATTTCCAAGAATTCAAAATGCATCGCCATGAAGGGAAAGAATTGTTTATGATGCTCCCTGGGGGCATAACTAGAAGTCAGGGCATGAAATTGAATAAGAGAAGAGAATATGTAGGCTCTGTATCTACAAAGTTTTCCCAATAGTAATATCTATTAAATTGTAGAATGGCCTCACAATGGAAGCAGTGGAAAAGCCATCCTGTAAGTTATTTCACACAAGAGTGGACAAAGTATTCAAAGATATACCTCTGGAAAGAAATCTACCCCATTGCTGTGACAGAGAGTATAATGAATGATTCACTTGAGCTTTCCACTTCTGCTTTTAGGAGAGTCATGTGTTTTAAATGAGTATCTGTCTTCCACTGTGAATATATGTGTCATAACTTTGACTTTATGTTTATTCTTTCAATCATGTTTTGCTTTTATTTTTCTAAAAGTCATTTAGTTTTTTTATCTTTCTATTTGCCTGGAATATATTTTATGAAAATCACATTTGTAGTTAATGTTCTGGGCTTGCTATAGGTAATGGCTCTAAGAAAAAGCAATAAAAGCAGTTAGTATTTTAATGCATTTTACAATGTATTTTGAAATGTATACATCCAATCCTAAACTATCAGCCCTTGAAAGCTGATGAGTGAACAGAAACTTTCATATTTATTGCTATAAATCTCATATTAGAAGTCTTCTCTTTTAACCACTCATAAATATGTAATTTCTCCATATTTTATTGAAAACCACTTTTTTTGCTTACGGACATTTATTAATACTAAATTTTCTCTTACATGATAATTTGTGAGAAATGGATTAACAGCAATGTGTATACAGAGAAGAACTATCTGAGATTTTCTGTACATTGAAAAGAGCTACTAATTATTTAGTCTATGTGGTATATATACTTACATCTCATAAAATAAAACACTTAGCAAATTTATTATAGATTTCAAACGATTGCCACAAAACAAGAACCTAGGACATTATGTTGTTTATTCCATCTCACGTATAAGATCCATTTGAACTTAATAAGTTCTCCCACTGTAAAGCCGTTTCTTATTTCACAATTATTATATCAGCGAAGAACACTTCAGTTGTAACATTGACTACATCCTCAGGTACTTTGTTAATTATATCAATTTCAAATTGCCCACTTCGGGAATACTCACCACATGATTACACAGCATAAAGCATCCTTACAGTGAATCCTGAGGGAGGATTATAGAAGAAAATGGTGAAGGGAGGTTTTGGTTTGTGCAAATTTCCCTTAACTTTCTCTTACATTACATAATCCTGACCCTTCCCTCCTTGTTGTTTAAGTCCTAATAGGTCCTGTTGCTCCTAATTCTCTTCAAACCTCTGTCTCTTAAAATGTTCCAGAAAATCACCAGGGTAACTCTGAATGGTAAAATGTGTACAAATCGCTTAGAGGAGGTTTTCTCAAACTCAGCATTATTTACACTTCGGGTTGAATAAGTATTTGCTAGAGTTGGGGATGGGTGGCCTGTGTATTGTAGAATATTCACCAGCATTCCTGTCCTCCGCCCACCAGATGCCAGTAGCACATCCATCCTTACCCCCACATTGTGACAACCAAAACTGTTTCCAGATATTGCCCAATATCTTGGGGGTTGCGGGGTATGCCAAACCACCCCTGGCTGAGAACCACTGCTAGAGCAAGGTGGCACAGGGTAAGAAGAGCTACCTGTCTCATTCTCCTTTTTATTCTTCCTCTTTTTCATCTCCAGCATTCTATGGAGAAGGCAGCTGCAAGAAAGTTGGGCTGGTGTTGGTTGCTGGAAACGTTAGCCAGTCACTATCCTGGCTTCGTGACATTACAGAGTAAGATTTTGAAGCTCAGTTTTGTGAGCTTCAACAAGAAACATAGAGAGGCTGATGCATAGTGTCCCCCAGATGAGACACACTGTTCCTCCTATTGAGAATATATTAATGATAGGTTCACACTTACTTCTCTGAGCTAATGATGGGAGGTGCAAATGTCCATACTGCTAATACTAATAAGAAAAACATTTACCTGGAATTTCACTTTCTAGCAGCACAAACGTGAGTAGAACTCATTTTACAGGCTACAACGTTCTCAACTGCAACATGGGAATATTGTATGGAGAATTCTATAGGTTATTTCCAGTTTTTGTCTGTCTAGTTTCAATGAACTGGCCAATAGCATAAGAAACTTCTCAGAAAGTCCAGTAAAACAGTAATTCATTCATTTCATCAATACATATACTGTGAGTGTCAACTATGTGCAAGGAACTTCACCAGGGTCTAACAATACAGAAATGAGTAATACAGGAACCTTGCTCTTGTGGAATTTTAGGGGTAGACTAACATGTAAACAAGTGAGTGTCAAAAGATGCATAGTATAAGAAGGCATTAATGATATAACGAAGAAGAAAGTGGTCACTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGCAGTGCAGTGGCACGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCACAACATTTTCCTGCCTCAGCCTCCCAAGTAACTGGGACCACAGGCGCCTGCCACCATGCCCGGCCAATTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCGGGATGGTCTCGATCTCCCGACCTCAAGATCTGCCCGTCTTGGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGAAAAGTGGTCACTTTTAATTGAAGGATTAGAAGAAGCCCCAACTTAAGAGGTAATGCTTGGAGTTTGGAAGGATCAGAAGTAGTTGATAATCCTGCACACCTATGATGTACCAGCCTTTGTGCTAGGATACGTTATTTCCAGTCCTGATAAGGTCTCTGCAATTCATTCTTTATTGAGGTTTAACTATGAGAAAACTCAGGCTTGGATAGCTGAAGGGCCTGGCTGATGGCTCTACGCTGAGTAAGCAGCAGAGGCTGAATTTAAATTCCAGAACCATCATGGAGACTCCTCTAAGCAAAGGAAGTGACATTAATTTGCAGAGCCTATGAACATGCCCCACATAATATTAGAAATATGTTATGCTCAGGGTGTCTGGAGACAGAGTAAAACATGGGCTGGGGTAAGAGAGAGAGCGCTAAGGAGCAGAGAGGAACAAACCACAAAATATCCTGGTGCCATGCTAGTTTTGGGGTTTTATCATAGGGAATAGAGAGTTACTGAAGGGTTTTAAGCAGAAGAATGGCAGCAGTTTGGATGGAGCCTTAGAAATATCTCTTAGGCTGCTGTGGGGAAGAGGAGCTGAATTACAATCCTGCAGGCAGAGAGACAAAGGAGAAGGAGATTCTTGTTTACTGTGTAGAAAAGAAATTATGGTGGTCATATCCAGACCACTAGAAGAAGAAAGAGGAAAAAGGGCTCATAGGGGAAGATATTAAGGAGTTAGAGAGGCAACAAAGGAGTTGCTCATTAATGAAGAAAAAAATCTCAGTACTTCTTCCAATGGGAAGAGAAGAGACAATGCCTATACCTTCATTCCCAAGTTTTCTTCTACTGCCCAAACTTCATCAAGATGGGATGGGGACTAACATTGGTGGAGCATCAAACTCCTGTGAAGCAGCTCTCCCTTCTCCCCATGTGCAGTCACCTCCTATGAAGCAAATTCTGTCCAACCCTAAGAGCTACTCTATAGCACCTTCCTGTACTTCAATCATAGCCCTTGTCCCATCCTTAGCTGTTCACACTTTTATTTATTTATTTATAATTATATTTTAAGTTCTAGGATACATGTGCAGAATGTGCAGGTTTGTTTCATAGGTATACACGTGCCATGGTGGTTTGTTGCACCCATCAACTCATCATCTAGGTTTTAAGCCCCGCGTGCATTAGGTATTTGTCCTAATGCTCTCCCTCCCCTTGCCCCCCACCTCCTCACAGGCCCTGGTGTGTGATGTTCCTCTCCCTATGTCCATGTGTTCTCACTGTTCTCCAACTTATGAATGAGAACTCCCACTTATGAGTGAGAACATGCGGTGTTTGGTTTTCTGTTCTTGTGTTAGTTTGCTGAGAATGATGGTTTCCAGCTTCATCCATGTTGCTGCAAAAGACATGAACACATTAATTTTTATGGCTGCATAGTACTCCATGGTGTATATTTGCCACATTATCTTTATCCAGTCTATCATTGATGGGCATTTGGGTTGGTTCCATGTCTTTTCTATTGTCCATAGTGCTGAAATACACATACATGTGCATGTGTCTTTATAGTAAAATGATTTATAATTCTTTGGGTATATACCCAGTAATGGGATTCCTAGGTCAAGTGGCATTTCTGGTTCTAGACCCTTGAGGAATCGCCACACTGTCTTCCACATTGGTTGAACTAATTTACACTCCCACCAACAGTGGAAAAGCATTCCTATTTCTCCACATCCTCTCCAGCATGTTTCCTGACTTTTTAGCAATCACCATTCTAACTAGCATGAGGTGGTATGTCACTGTGGTTTTGCTTTGCATTTCTCTAATAACCAATGATGATGAGCTTTTTTTCATATGTTTGTTGGCCACATAAATGTCTTCATTTGAGAAGTGTCTGTTCATATCATTGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCCTTGTAAATTTGTTTAAGTTCCTTGTAGATTCTGGACATTAGACCTTTGTTAGATGGATAAATTGCAAAATTTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCTGATGATAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGTCATGAAGTCTTTGCCCATGCCCATGTCCTGAATGGTATTGCCTAGGTTTTCTTCTAGGTTTTAGGTTTTAGGTTTTAGGTTTATGTTTAAGTCTTTAACCCATCTTGAGTTAATTTTGTATAAGGTATATGGAAGGGGTCCAGTTTCTTTTTTTCTGCATATGACTAGCCACTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCGAAGATCAGATTGTTGTAGAGGTGTGGTGTTTTTTCTGGGGCCTCTGTTCTGTTCCGTTGGTCTATATATCTGTTTTAATACCAGTATCATGCTGTTTTGGTTACTCTAGCCTTGTAGTATAGTTTGAAGCCAGGTAGCATGATGCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCTTGGCTATATGGGCTCTTTTTTGGTTCCATATGAAATTTAAAGTAGTTTTTTTCTAGTTCTGTGAAGAAAGTCAATGATAGCTTGATGGGAATAGCATTGAAGTTATAAATTGCTTTGGGCATTATGGCCATTTTCATGATATTGACTCTTCCTATCCATGAATATGGAATGTTTTTCCATCTGTTTGTGTCTTCTCTTATTTCCTTAAGCAGTGGTTTGTAGTTGTCCTGGAAGAGGTCCTTCACATCCGTTGTAAGTTGCTATTGTCAATAGTGGCTATTGTCAATAGTAAGTTGTATTCCTAGGTATTTTTTTCTCTTTGTAGCGATTGTGAATGGGAGTTCACTCATGATTTGGCTCTTTGTTTATTATTGGTGTATAGGAATGTTTGTGATTTTTGCACATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTCAGGAGTTTTTGGGCTGAGACGATGGGGTTTTCTAAATATACAATCATGTCATCTGCAAACAGAGACAATTTGACTTTCTCTCTTCCTATCTGAATACCCTTTATTTCTTTCTCTTGCCTGATTGCCCTGGCCAGAACTTCCAATAGTATGTTGAACAGGAGTGGTAAGAGAGGGCATCCTTGTCTTGTGCCAGTTTTCAAATGGAATGCTTCCAGCTTTTGCCAGTTCAGTACGATATTGGCTATGGGTTTCTCATAAATAGCTCTTATTATTGAGATACGTTCTACTGAATAGTTTATCTCAATAAACTATTAAGATAGTTTATTGAGAGTTTTTAGCATGATGGGCTGAATTTTATCAAAGGCCTTTTCGGCATCTATTGAGAAAATCATGTGGTTTTTTGTCATTGGTTCTGTTTATGTCATGGATTATGTTTATTGATTTGAGTAAGTTGAACCAGCCTTGCATCCCAGGGATGAAGCCAGGAGCTGTATTTTTGAAAAGATTAACAAAATAGATAGACCACTAGTCAGAATAATAAAGAAGAAAAGAGAGAAGAATCAAATAAACAGAATAGAAAATGATAAATGGGATATCACCACTGATCCCACAGAAATACAAACTACCATCAGAGAACACTAAAAACACCTCTACGCAAATAAACTAGAAAAATTTAGAAGAAATGGATAGATTTCTAGACATACACCCTCCTGAGACTAAACCAGGAAGAAGTCAAATCCCTGAATAGACCAATAACAAGTTCTGAAATTGAGGCAGTAATTAATAGCCTACCAACCAAGAAAAAGCCCAGGACCAGATGGATTCACAGTAAAATTCTACCAGAGGTACAAAGAGGAGCTGGTACCATTCCTTCTGAAACTATCCCAAACAATTGAAAAAGAGGGACTCCTCCCTAACTCATTTTATGAGACCAGCATCATCCTGATACCAAAACCTGGCAGAGACACAATAAAAAAAGAAAATTTCAGGCCAATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATACTGGCAAACCAAATCCAGCAGTACGTCAAAAAGCTTGTCCACCATGATCAACTGTTCATGCATTTAGTATTGGTTTAACTCTTCTTTAAAAACTGAGCTAGATTCCTTGAATCCCCCCAGTACCAAGCATAAAATAGGTCCCCGTAATTATTTGTTGAATCAGCCACTCGAAATCCCTCTTGACAGTGATAATATATTAGTATAAAAAGATAGATGAAGTAATGCATATGTTTCTTTGTTTTGATTATATTTTGATTAAAACATACCATGTGTGTCTAGGATGACCATTTTTCACCCATAAAAGGAGTGGGGATGGGGGACACTTGCCACTTATTATGTATTTGAGGGTAATGGGATCTAATATGTACAGAGATGCTTTTTCTTTAGAAATATGGTTGCTAAGGCCAGCAGTCCAAATGATAAGATGAGGTTGTTGTCATACAAACTGAAATGTGGTGAGGAACCAGTAAAGTAGAGATTATAGAATTGTTAGAAAAGGGTTAAAGAAGGCTGATATACTGTGTAATAAGTGCTCAGAAAACAAACTTGCACAACCACACAGCACAGGAGAGATTAGGATATGAGATTGCTGCAGCTTCATCATCCGGCTCCATCATCATAAAGAGTATCATTTCCATTGCTAACAGCTGGGAAAACAGGCACCAGTAGTGTCGTTGTTGGTTTCTTTTCTGTGTAAACAAACATTTTTCAATAGCAAAATTGAAGGGATTTTCTCTTAATTTATAATAGGAACAATGATATCTTCAGAATGAAACCCAGTTTGCTGAGGGAAGAAAATGGACAATCGATAGGGATGGTGTTCTTAAGGTTGCAGGGCTGTTTTCTTTTTTTATGAACATTTCAAAACATGAACATTGTCTTTCAAAATGGCCACCTGGGTACTCTTTCTCTCCTAATGTCCCCACACAGAAAATTAACTAACGAAACATGTAAGCTAGAATGCTGTTTGTTTGAAGGGTAGTATGGAATTATGAAAACAAATTAATTAAGATGTCTCTTTTTATGGGACTTAAATATGTTTATATTGATATGCAAGTGTGAATTGAGAGAAACACTCCAGCCTACTGAGTTTTTTTTAATGGAATTAAGAAGCTCCCAGTAGTTTGTTACAATACCTCAAGACCATGTGAGTCACTTACATTTTAGAAAGTGCTTTCCCATATGTGATCTCATTTAATCCTATGGCATGCTTGTAACATACAAAGTGTTTTAGAAATGTTTGTAGATTTGGCAAAATATAGCTGAACTGAAAATTTAATTCTTTTAGAAAGATATACTAACTGTCTTGTACCCCTGTACTAAGTGACGTCATTGTCTTTGAAGTGTTTCCAGTCTAGTGAAAAAACATAAATCCTGTAAAACAGGTACAGTGAGCTCAATGCTATTAAAATGGTAAAATGAGTAGCAAACGTGAACTTGGGGATGGTATTGTCAGAGAAGGGGATGAATCCTGGGGCTCTGCTTCATACATTAAGGATTCATATTAAGAGAAATAATTCTTAACAAGGCAGCACATCAGAATCAGCTCAGGAGCTTTATAAATGGAGCTTTGCAGATGCTTTCCCCATGAGATACTGATTCACTGAGTCAGGCATCAGTTCTGGACATGTATGTTTAAAAGAAAATTCTAATGCAAACCATTGGTCATTTTCCTGGAATTGTGGTACTTTCTTTCTGCAGTCTAAATTATACTCTATAGCTAAAGCCTGAAGTCTTTGGCCAAATTTCTTTCTTTCCTTTAGCTTTAGGTTCTGTTGCTTTTAAAAGCAAATAATTTGGGAAGGATAAGGCTTTAAACTGTTACCAGTCGGTAACTCACTTTGTTCCCTCTACTTAGATTAATGATTCCCCACTCCTTCCTTGGGTCAGCTTTCTTCCTATGTGAATCATTTCCAGATCAGCTTCTCTTTCCCTTGGACAGAATTTATTTTCTCTCTTCTCCCATCCTACAAACCCTCAGTTGTATTTCAGCTATCACTGATCTTACCACAATTGACTCAGGCAACTATCTGGCAGGGAGGTTTCACATTTTATTTGTATCCCTAGGTCTTTCGTTGGGACCTGCCATGGCGATTGAGAGGCAAAGAAATGTTTGTAGAAAGAATGAGTTACATAATTCATTAGAAAATTAGCTTTCAGCCTGGTCTACAAGAAAGATTTGCTAGTTGTTGTGATTTGTGAGGAAATAACTTTTGGGCATTTGGTAAGGATGGAACACAGAGATGGGGTGAGTCAGGTTTGTAGATAATTCTAAGAGAAAACAGGCCACAAAACATAAGATCTGCTTTGCCATTCTGCCTATAGCTGGCTGAGAAATAACCATTCTATTTTTATATTGAAAATAGCATATATACATTTTTTTGTTACACAAGGGATGCTCTTACAAAAGGTTCAGAAGAAAATGGAATCATTTGCAATTGTTTATTCTAACTAATTGTAACTTCAAATCAAAATTAGGCACTGGCCCGCAATCTTAAATTAGAGCTCTGCCTTTATAACACTGATTTTCCTTCATAAATGCTTTCTTAGTTAAGACTTTGTATGCGTATTTATATATTTTTTAACTAATTAAAATCCACTTCCCTATCTAGGTTATCTCCTATGGCTAAATGAAATAATTTTGTATTAGTTATTCATATTTCTTTTTTATCTGTTACAGAGATAGTACAGAGATTAAAATAGTAGGGGTTTTATTGTCTTTTTCTTTAAAAAATCTGTTTTTAGCATTTCAGGAAAAAAGAAAATGCCAGAAAATCATACGGAGTGCTTCTGGCCTTGAATAGCTATGCATTTTAGACACTTGGCTTGTGTTTGAGCCAAAGGAATACATTATGTTTTGCAGAATTCTATGAGAAATGAAGGCCTTTCTGTAGTAGTGACATCAAGAAACTTCAAGTCCAAATTTACTATTAAGGTTGGAATTTTAATGTCAAAGGTATATTTCAGCTATTTTCATGAGTAATTCAAAAGGGACTGACCAAGAAAGGTACATCTAATGTGTCATTGCTGAATACAGCTAGTTACAGTTTTTGGCTTCTTGTCCTGCCAACACTGCCAGGGTTGTGGGTGTCGAACTGGGAAGTGGAATCTCACTGCACTAGGTATTCTCTTACTTTATGGGATTCTCTAGTGTTTTTCTTGTGCCAAGGCCTCTTAAAGGACCTTGAATACTGTTGTGGACTGAATATTTGTGTCCCCCCCAAAATTGATACCTTGAAATTTAAATGCCCAATATCACAGTATGTAGAGGTAGGGCCTTAGGATGTAGGAATGGGATTAGCAACCTTATGAAAGCAACCCCAGAGAGCTTTCATCCTCTTTCCATCATATGTCACGTGAAGCTACAAGAAGAATTTGGCAATCTACAACCCACAAGAGAGCCCTCACCAAAACCCTACCATGCTGGCACCTTGATCTCAGACTCTCAGCCTCCAGTACCATGAGAAATAAATTTCTGTTGCCTATAAGCCACGAAGTCTAAGGTACTTTGTTATAATAGCCTGAATTGACTAAGGAAAATGCTTATTTTGATTCTAACCCTCTGCTATGTTTCGAATGACTGTCCTCTCCAAAACTCATGTTGGAACGTAATCCCCAATGTAACAATATTGAGAGGTGGGGCCTATAAGTGATTAATTCATTTACTGGTTAATGGATTAATGGGTTAATGGATTAATGGGTTAGCATGGGAGTGGGTTAGTTATCATAGAAGTGTGCCTGTTACAAAAAGTCAGGTTGGCTCTTTCTTGCAAACTCCCTTACCGTGTAATGCTCTATGCCATCTTGGGACTCTGCAGAGAATCCATACCAGCAAGAAGGCCTAGAAGACCCTCACCATATACTGCCCCTAGACCTTGGAGTTTCCTGGCCTCCAAAACTGTAAGAAATAAATTTCTTTTTTAAAAAAATTACCCAGTCTCAAGTACTCATTTATAGCAATAGAAAAGGGACTAAGACACCCTCCGAAGACATTTAATGGTAATAGTAATAATAACAGCTGTATCTGTTGTACACAGACTGTGTACCAAACCCGTATATTTTAAAGATAATCTTCAAGCAGCTTTATAATGCAGATGAATCCTTCCCATTTTACAAATGATGAAACAGCAGCTTAGACAGTTTAATTGACACTCTAGATCTCATAGATAATACACAGATTTGAATTTGAGTGTTTCTGATTCATATATCCTGTACTCTTTACATAAAAGCTAAAAAACAAAAAAATCAAATGAATGGTTTTGGAGTGTTTGAAAACCTGGAAAGCTCTTGAGGCCTTAGTTAATATCTGCTAGAATGAGACTATCTGGATTCCAGAGACCTGTGACAATTATTAAGAAGCCCTAAGTCTTTTAAGGCTGCTGCTGCTGTCCATGAGGAAGGCCAGCTCAGCAGTCTCATCAACAGAAGACCCAAATCTTGCCTGCTATGGTGTTACAGTTACACAGTCTCATGTAAGGTCAGGCTAGTATTGGTGCAACTATATGCCTCTTAGAGTTTAAAATGTTGCAGAGACTGACTTCAGAATCAGAATACCTGGTTATATGCTTCATTTCTATTCCACAGTTTCCCTAACATTTGACCCTTACAATTCCCCTCCAACCTTGATCCTACTCTGAACCCAATCCTCACCCCCATTCCTCCAATGCCCAGTAGGCCCTGGAACAAAGCAGCTAAGGGCCCTTGGTATGCTGGTATGATTGCAACATCGGAGTAGGAGACAGCAAGTCTTTCAGATTACTATAGACATAAATGATGGTCTCTTTATATACTGTCACTTAATATGTCATTGGGGATAGATTTTTTTGCTTTTACTCCAAAATATCAGACACATCTTAGGTATTCAATGAATGCTTGTTGGTTCAGCCCAGTTAAATATTTTGAGGCCTGCTGAGCGCAATGCACAGTAATAGACGCTGCAGGTGTGAGCCACTCCCTACCTACAAGGAGCTTTTGCTCTAGTAGAGATAGTGAGGCATGTATGTGGGTTTTTATGGATTAAAAAGACTGGAAAGAAATGTACTTTGAAAAGCAGCACAAGACAAGGATGCCCTCTCTCATCACTCCGATTCAATATAGTATTGAAATTCTGGCCAGGGCAATCAGGAAAGAGAAAGAAATAAAGGGCATCCGAATAGGAAGAGAGAAAGTCAGATTATCCCTGTTTGCAGATAACATGATCCTATATCTAGAAAACCCCATCATCTCAGCCCAAAAGCTTTTTACATTGATAAACACCTTCAAGAAAGTCTCAAGACACAAAATCAATGTGCAAAAATCACTAGCATTCTTAGACACCAACAACAGGCAAGCTGAGAGCCAAATCAGGAACAAATTCCCATTCACAATTGCCACAAAAAGAATAAAACATACTTAGCAATACAACTAAGTGGGAAGGTGAAAGATCCCTACAAGGAGAACTACAAACTCTGCTCAAAGAAATTAGAGATGACACAAACAAATGGAAAAACATTCCATGCTCATGGATAGAGAGAAGCAGTATCATGAAAATGGCCATACTGCCCAAAGAAATTTATAGATTCAATGCTATTCCCATTAAATTACCACTGACATTCTTCACAGAATTAGAAAAAAACTATTTTAAAATTCACGTGGAATCAAAAAAGACCCCAAACAGCCAAGACAATCCTAAGCAAAAATGACAAAGCTGGAGGCATCACACAACCTGACTTCAAACTATACTTACAGGGTTACAGTAACCAAAACAGTGTGGCACTGGTACAAAAACAGATACCTAGACCAATGGAATAGAATAGAGAACCACAAAATAAGACCACTCACCTACAACTATCTGATCTTTGACAAACCTGACAAAAATAGGCAATGGGGAAAGGATTCTCTATTCAGTAAATGGTGCTGTGAGAACTGGCTAGCCATATGCAGAAGATTGAAACTGGACCTCTTTCTTACACCATATACAAAAATTAACTCACGATGGATTAATGACTAAAATATAAAACTTAAAACTAAAAAAATCCTGAAGACAACTTAGGCAATACCATTCAGGACATGGGCATGGGCAAAGATTTCATGATAAATATGCCAAAAACAACTGCAACAAATGCAAACATTGGCAAATGGGATTTAATAAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTATCAGCAGAGTAAACAGACAACCTACAGAATGGGAGAAAATTTTTGCAAACTATGCATCTGACAAAAGTCTAATATCCAGACTCTATAAGGAACTTAGATAAATTTACAAGAAAAAAATAACCCCATAAAAAAGTGGGCAAAGGACGTGAACAGACACTTTTCAAAAGAAGACATACATGTGGCCGACAATCACATGAAAAAACCGATCATTAGAGAGATGCAAATTAAAGCCACAATGAGATACCATCTTACACCAGTCAGAATGGTTATTAGTAAAAAGTAAAAAAATAACAGATGCTGGCAAGGTCGTGGAGAAAAACGAATGCTTATACACTGTCGGTGGAAGTGTAAATCAGTTCAGCCATGGCAGAAGACAGTGTGGTGACTCCTCAATGGCCTAAAGACAGAAATATTAATCCCACTCAACTCAGCAATCCATTATTGGGTATATACCCAAAGGAATATAAATCATTCTATTATAAAGACATATGCATGCATATGTTCATTGCAGCACTATTTACAATAGCAAATACACGGAATCAAGACATATGGTCATCAATGTTAGATTGGATAAACAAAATGTGGTATATATACACTATGGAATACAATGCAGCCATAAAAAAGAATGACACCACATCCTTTGCAGGGACATGGATGGACCTGGAGGCCATTATCCTCAGCAAACTAATGCAGGATCAGAAAACCAAATACAGCATGTTCTCACTTGAAAGTGGGAACTAAATGATGAGAATACATGGACACATACAGGGGAACAAGACACACTGGGGCCTTTCAAAGGGTGGAGTGGTGGAGAAGGGAGAGGATAAGGAAAAATAACTAATGGGTACTAGGCTTAATACCTGGGTGATTAAATAATCTGTACAACAAACCCCCATGACACAATTTTGCCTATGTAACAAACCTGCACATGTGCCCCTGAACATAAAAGTTAAAAAAAAGAAATGTGCCAAAATATTCATAGTAGTTGTGTTTAAGTGATGGGACCTATGGGTGTTTACTTTTTGTTTACATTTCTACATAAATCAAATACATGTTGTATAGATGTACTTTATTCCTTGAATAGCCATAATGTTGATTTAAAAAAACAGTAACTTGAGTACTTGATGGAGAGGAAGTTCATGTGGCTGAGGTGCTAAAAACTAGTTAAATATATTAAATAATTATATTTAATATATTTATATTTATTTAATATATAATATATTAATTTATTTAATATATAATACATTAATTTATCTAATATAGTTATATTTATTTACTATATAATATATTAATTTATTTAATATATTTATATTTATTTAATATATAACATATTAATTTATTTAATATAGTTATATTTATTTAATATATAACATATTAATTTAATATGTTATATTTATGTAATATATATTAATTTATTTGATATAGTTATATTTGTTTAATATATATTAATTTATTTAATAGTTATATTTATTTAATATATTATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATTAATTTATTTAATATATAATATATATTAATACACACACATATTTTTTGAGACAAGGTCTTGCCTTATCACCAAGGCTGCAGTCCAGTGGTGAAATCATAGCTCATTGTAACCTCAAACTTGGGCTCAAGTGATCCTCTTACCTCAGCTGCCCAAGTAGCTGGGACTACAGGCGTGCACCACCATGCCTAAATTATTGTCAAGTTTTTTGAAGAGATGGGGGTCTCACTATATATGACTAGTTGGTCTTGAACTCCTGGCCTCAAGTAATCCTCCTGCATCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACTGTGCCTGCCCAAGGGCTAGTGATATTTTTGACACGAATATGACTTTGACAGGGAGAAGAGGGCTTGAATTCTTAAGGAAATATACATGAGAAATGTAACAGCCAGGAATGAGAGATGAGGAATCCTGAGGTGACTAGGTTATCAGGGAATAGTTCTGTTTGTCTGGACTAAAGAATATGTGTAAGGAAAAGGGAGAATTGAAACTAGAATGTTAGGCTGTGGTCAGAACATGGAAGACTCTCAGTATCAGAGTGAAGTATCTGGACATATTTCCGTAGAAAACTGGGGGTCAGTCACAATTTTTCAACTGGAAAATATGATCACAGCTCTACATTAGCAGGTAGCCAGGTGCAGCACAGATTGGAGATGGGGGAGACAGGAGGGAGGGAGACCAATCAGGAAGTGATTAGCCGGGCCCAGCCAAGAAGCAATGATTACTTGATTATTTATTCATGTATCTCTCTTTCACAGAGGTGGCTCCATGACTTTTCAATTTTTCTTTTTAATGTTTTGCCTGTCTGGCTCCAATTTTCAATTGCAAAATAAGAAAAGATTCACTTTGAATCCGTAGCTCAATTTGCTCTCAGGTGAAAGGCACAATCTTGAGTGGAGGTTAGCCTTAATCTGTCACATTTCCACTGATAAAGGGAACATTTAGGACAGTTGTTTTCAAGGCTGGATGAGTCCTGTCTCTTTGATTGATTTCTAATTCCTTCATTCACCTAGGAGAGGAGACGGGTCTCTGAAGTTCATGGGATCTTTAACTTCCCAGTTAGAATGGCTGAATCTTACAGCAAATAGAGCAGGTCAGCTAGGTCTCCTTAGAGCCAGAGTGAGTACAAGAGTAGAACAGAGTTCCAAAGGACCGTTACCAAAGATACCTGATTGAAAAACTTAAAACATAAAACTCACTGTGGGCTCCCACCCTTTATGGGCACACAGCCCCTTGCTCTTTTGTAGGGGGGAACTCTTCTTTCCATATTACTGCCCCAGCCCACAGATATGGAGACATCAACAAGTATTTTTCCTTTCATCACTTGGAAAGCGCCTTTGCAAAGATTATAACTGAGAAAATTATGATGGTGAAAGAGATCTGACCTAACCGACTCCATCTTGCTTTTAACCTCCAAGCTGTCCTGATTCATTCCTGAGTGTAGGCCAAACTAACTTTGGGAGGAGCTTAGTTTTTAGTTTAACTAGGAAACAAAGACGGTAACAGCTCTTTCTCAAAACAAACCCCCTTCCTGACTGGGGACTAAACTGTCTTTACAGGACTAAGAAATTAGCCACAAGATTAGAAATTATGGTTTAGGAGTCATGCAGCTGGAGGCTGCAAGATTCTCAACCTCCCAAATTGCTCCTCGGGATAACATCACTATTCTAAAATCTAAGATCAGTGCTTAAGATATTTTGCAGAACCTGCACTGGATGGATCAGCTGGCACCACTCAGATCAATAAACTGGTTCATCTGGCCTCGTGGTCCGCAACCAGGAACTGACTGAGCACAAGAGGAGAGCTTCAACTCCCTATAATTTCATCTCCATCCTGACCAATCAGCACTCCCCACTTTCCAACCCCCCCCCACCCCAAACAAATTATCCTTAAAAACTCCAATCCTTGAGTTTTTGCAGAGACTGATTTGAGTAATAATAAATCTCTGGTCTTCCATACAGCTGGCTCTGTGTGAATTAAGCTCTTTCTCTATTACAATTCCCCTGTCTTAATAAATTGGCTCTGTCAAAGCAGCGGGTAAGGTGAACCCGTCAGCTGGTTAAAACTTCTTCCATCCTCCTTCCTTTCCCACCCCATTTCTCTTTTGGGTTGCTGCTTCTAGGATCAATCACCGGGAAAGGTCTAGGCTCTCCTCTTCTTCCTGAGTCCACCTGCTAAGCACAATGTACCTCCTTGCTGGCTATCCCACCTAATTGTGACTGTTTATGACCATTTGTAACCAGACTTGTGATCTTCCATGCAGTAGGAAGACTGTGTAAGTGTACCCATGTTTGTTTATCAACCTTGAGCCCTCCCAAGCATCCTTGAGTCTGAATTTGCATCATAGTTGTTGTACACTTACCCTGTGGCTTTTCATTCCACCCAAGTTCTCCATTCTAGTTTTACTAGAAAGACTTAAGCTTTAGTATTTCTTGGACTCACATTAATGAAACTGCTACTTTTGAGTCCTTTTGGCTTCTTGTATCTTTTGCCTAGTAGCTAAAATAAAGAAAGGCTAGTAAGTGATTAGCACCATTAACCTGCAACACTCTGAATTAACTCATCAGGATACTCTGAAATGCCTGCTTTTTCAGGCCTTTATGCAGGCAACGCCCTCTTCCCGGGATGCTGTTGCCTCCCTGACACAGCCCAGCAATTCGCTCCTTTGTGAGGTTAAATGCCTGTCTTTCTTGTGTGCCCCAAATACTCCATGCACATTTTATCACTGCAATTCTCCCTGCCTTATAATTGTGTACCTTTCTCTCCCTCAGGACTATCATTTTCTTATTATCCACAGTAAGTCTTCAGACATATTTGTTGAATTTATAAGTGAACGATAGGTGGAGACATTTTTTTAATACCAAGGTTTCACTTCATCACTAAGTAACACTGCTTTGTTTTTGACATATCTTAAATATGCAAGCCATTTTCTAAAATAGCTTGAATAGCTTTTTCCTACTTCGTTTTCCTCATTTTCTTAATCTATCAAAATATTAGTACACCAAAGACCACAGATATACAGGAAAGGTTATATGCATATAAAGAGGCACATTTATCTAAAAATCACTACATTTTTTCTGGTTTTCAAGGATAAAAGTTTACTTGTTGCATGCCCATATAATTAGATACTAGATAAACAGGATACTGAACTTTCCAAGTGTCATTACACAGCATCCCTCTCAAGCTGGAAATGTGTTTACTCAGCACATCGGGGAGTCATCTGCTCATATGATCAGCAACCAGGGTTTATGAAGAAAATTACAGCAGTAAAGTATTATTTCAAACACTGCTTGTGTCAGGACTAGTCAACATGCAAAACATTCTCAAAGTCAGATAACACACAAAGGCAGCAAGTGTGGGGTACTTAACCGCGCCCGTGGATACAGAGGATGTTATGGATGAGATTCAGGGGCCTCCCTGCAACTTTACGCACAACTTCGGATATATTTACTTTTCTGTGGAGTGGGTCCACAGCTTTCATATCTCAGGGATAGCAGCACATATGTATGAGCTCTGTGACCACAGGCATGCTCCTAACCTCTGTGTTTTCACTGACTCATTTGTAAAGTTACCTAACCTGTGTTTATTGAATCACTTGTAAAATAACAGGATTAGCATAAGCATTAGATCTCTAAGATAATGCAGCTTTAAATTCTATATTTTCCCTAATCCATGCTTCATGGAGATGCATTCATGCAAGACTTAGTAGTAACGGAATATTTACGACATGTCAGGCATTGTATTAAATACTTCACATACAATGCCTCATATGTGAAATCCTCAAAGTAATCAAAAAAGGTTAGATACTATTATTCATCTTATTATTATTATTTTAGTATATTTAACATATTATTATCATCATCAGGACTGTCCCACCAAATTATAATTTCTATAAGGGCAGGAACCTTGTCTGTTTTATCATATTCTTCCCTGTCCTATGAACTCTATCAAAGTTCTCATATGTACTGTATTTAGGTTTTAGGAATACAATTTGATTAACATAACCTTCCCAAAGAGAACACTAGTTCATCAAAATGATCTCTGTAATTGGTGAAATTTTAGAATATTTGTGAAATAGTGAATAAGAACACCTATATAACCCTGCCTATAATATCCTGCAACAGCAAGAATCTGTTCTTAAAGAATGTGTGCTTCAACCAGTATCCATGGAAGTGCCTTCATTTTCTCTGCGGCCTAGGCTTTCCAGCCCAGGACAGCAGCATTCACCCAGGGGTTCTGGTACATACATTTGTCCCTCTTGCTCTGCTATCCTCCTGACCACATCCCTGGCTTGCTTTGTGTCCAGACAGACAGATCCTAATTGCAGTACATAATGAAAACTTTAATAGAGTTCATGGGACAGTGAAGAATGAAATTTAATATAATCCTGAAGCAAAGGAAAATTTGACAAAGGATATGGCTGGGTCCATAAGCAAATGGTAATGGGTGAGGGGAATAAAGGGAAAATTGGGCTCTTCAGGGTTGGGAAGCAGAAGAGGAACAGGTAGGCAAGAAGGAATGGGAGGACACAGAAAGTGAGGTGAAATGAAGTCCCATTATAATATTGTTTGGCTCTTTCTAGTCATGCATGTGTTTCAATGCATTTTTGAACAGACTTTTTATTGAGCACCTTTTATGTGCCATGCACTATGATAAAACATACAAGTTTCCTTCCCCATAGAAATTATAATTTGGTAGGACAGTTCTGATGATGATAATAATGATTAATATACTATAGAATAATAATAATAAAAAGATAAATAATAGTATCTAACCCTTTGGATTATCTTTGTTTAGTGTCTTATTGATACTTTTGTAGCATCTCACCTTAGCTAACCCTCTGGTTTTAGCTACCTTATCCCATCTAAGTGCTGAAAGACTTGAGAGATATCCTCAGTAGGATGGTCTGAGATAAAGATAAGAAACCTTCCTCATCTTTGACTGAGAGAGGAGTGACCTACTGGGTTGCTTCCCTCTCTTGTCTTTGCTTCCTTTCAGCAGCCTGAATGCTAAGGCACCAAGAAAATCATCACTCCAAGGGAAAGGTGCCTTCTCTTTTCTATTTTAGGGTCTTAGCAATTGCTCTCCTTTTGCTTAGTGCACTCTTCTTCCATAGCTTTGCGTCATTGCTTCCTAATATTTCAGGTCTCCATTGAAATTTTACATCCACAGATCATCCTTGACTCCCTAGCTGGAATGGGCTCCATACTAGTCACTCTCCAACACACTATTTTCTTTTATCTGCCTTTATTGAGGTTTGAATGTTTCTATGTATGCATGTACTTCGCTGCTTACATGCTTATGATCTATTTCCTCCCACTGCTATGAGTATTCCTGACAGCAGAGGTTCTGCCTGTCTTCCTCACTGCTGTATCTCCAGGGCACTGGACATGCCTTGTCTGGCTTACAGTAGGCATTTATGAAACTATATTGCAGCTCTTGCAGCTCTGAAATCTCCAGTGGGATATATTTGAGGGAAAGAAACTGAGGTAAACAGAATCTGCTGTAGGGATTACTGTCCTCACTCTGACAGTCCTTGGCTATATATATATAGTCCTGGCTGAAGTGCCTAAAATACCATGGGTGTTCCGAATAGTCAATTCCGAAGGTCAATGGTCCTTTACTCTCTAGCTTTGTTTAAGAATTCAGCTTAGGGCCAGGCGCGGTGGTTCACACCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCAAGAGGTCAGGAGGTCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCAGGAACCCAGGAGACGGAGCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTAGGCGACAGAAAGAGACTCCAACTCAAAAAAGAAAAAAAAAAAAATTCAGCTTAGGAGGATGATGCTCACCTTTATTTTGCTGTTGATAATATTGCTTTTGTTTTACCAACTGGTAAATTTTAGGTGAGCATAATTAGAGTCTGCAAAAGTTATTATAATTGATAATCTTATCTTTTTCAACCCCTGGGCTGTTCTCCTCCTCTCTTCCTTCTCCTCCTCCCTTCTCCATCTTCTTCCTTTTCTTCTTTTTCTATTTTAAATAATCATTTTTATGTAAAACCATTCTTCATTTGAGTTTTATTCCCAATGGAAATAACGGCATCACTTTAATTAACTACAGAGATATACACAGCTAAGCAACTGATATGACAAAATAGGTTTTTTATTTTAGAAAGTGTTATAATGGGTATTAGCAAATTTCAATGTATAAAATAAAGTAGATTTTATTAATAAAAGAAGAAAGTTTTTGAGTAGCTTTCCAAGCTTTCAAATGACTTGACTTTTTATTTTTGAATTTTAAAAAATGTACCTCACATTAACACAGACACACACGCAAGTGGGCTATTTATACAGGATTGTCTGTTACCTGATATATTAATAATATGGCCAGTGATAATAATAACAATAATAGCCTCAGACAGTTGAGTAATTAATAAGTTCCAGGCAAAGTGGTTTATAAAAGTTATCTAATTTAATCCTCAAAACAACCTAATGTCATGCAGTATTATCACCATTTTACAGACGATGAAACTGAGCCATTAGTCAGTATGCAGCAGAGCTGAAATTCATACCCTTGTTTGTTCAGTTCTCTGTACACCATCTACCGGGGGGAGCCTTGTAATTGAATACCTTTCCAATAATCTACTCAGTAGTCTTCTCAGAAAGATTCCTAACCATCCAACCATTCATTTGTTCTCCAGCAAAGTAGATTTGTGGCAGGAGATCCTAATTTATTTAGATAATCATATCTCGCTACCAAATATTTGACAACATTATCCATTCTGCTTAATTATGCTTTCTGAAGGTATCTGTTATCTTTAATGGGGTAGAATCAGAAAAGAAGGCTGAACAGGAGAGCAATAAAATGAAATGAGGCAAATTTTATGAATCATATTTTCCCAAGAAAGGGTCATTTCAACAAACACACGGTCTAGCCATGTATAAGGCACTGTATAGAATTATGCATAGGAATGAGATACACATCCCAACTTCAACAAGCAGATAAGCGTGTATCTGGAGGAGACAGATATATACATAATTTGTGATGGTAAAAGGTAGAATTATTGTCATCATTTATTGAACACTTAATACATCCTATGCATTGTGCTAAGTAATTATCATTTTAAAATTTTATACCAATTCCAATTATTACTCCCATTTAAAAGATGTAAAAGCAAAGGATAAGAAAGCTGTTTAATATTGCACCATTCCTAATGGGTGAATCCTGCCTTCAATCTAAGGTATGCTTTATGGTAAGGCACTGGTCCCATATGGCTATGCTGCCATGCCCTGGGTGGGCACTGTGACAGGTGCTAAAAGAAGGTAGAAGGTTGAATTCCACACATCAAAAACTGTGATATAAGCATCAATCCCAACCAAAAATAAGTTATCTTGATGTTATCCATTAGTCTCCACAGTTTGCTAGAGTAAAAAACCGACTAAAAATGTACATTGCACTTTTCCAAAAACATTATGAGCATGAACCATGTAGATGTGATTCCAGTGTAATAGGCTCTTGCAGTCCTGGATACCTACTACTTGTAGCTTTAGGAAATGTCCAGGTACACCTGGAGAGTCACTGAGGCAGGAAGAGCAGAGATGTTCCATGGGAGGTATGCAGGTAGAGAGGTAGATATGAGAAGGGAGGTGAACTTGACCTATGATCTATCCTAACAGCTACTCTTCATTTTCCAAGAGCACCTTGACTTCTCGTGTGCTGTTTTTGTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAGACAGGGTCTCACTCTGACACAGGCAGGAGTGCAGTGGTGGCATCACTGCTCACTGCAGCCTTGACCTTCTGGGCTCACACAGTCCTCCAGCTTCAGCCTCTGGAGTAGGTGAGGTTACAGGCATGTGCCATCATGCCTGTTTTGTTTTGTTTTGTTTTTCACTTTTTGTAGAGACAGGGTCCCACTATGTTGCCCAGGCTGGACTTAAACTTCTGGGCTCAAGGGGTCCTCCTGCCTCGGCCTCCCAAAATGCTGGGATTATAGGCCTTAGCCACCACACTCGGCCACGAACTAATCTTAAGGCTCATATTTTTCTTGCATCTAGTATTCCTTAAAGTAGGGGTTGCAAAACAGCTGACTCTAGCTCCTAAATGTGTTTAGCATTCTAAAATTTATTATTTAAACACACTTGAAGAGGGATTGCCATTTTTAATCCCACTATCTCCCTATTAATTTACACCTGGCCTACTTCCAGTTTCAAGCCTGGTCTCTTAAGTTTATAAACCCTGCTTTAAAGCCTCTCCAAGTAAAATTTAAACATGAATAAAGTGATCTTCCCAGTACAGTGGTCAAACCATATGTGATCTATCCCTGCTGAGCCAAGAATCAAACAGAAGAGTTTTGTCAAAAAGCCACATGATCTAGAGTCTCTACATACCTGGAGGTTAAGCTCATTCTATCTCTTAAAATTTGTTTGTCAAAATACTTTGGCTTTAGTGGGCCATATTTAAGGCCAGAAGCCTATTAGGAGGCAAAAGAGTCTGTAGCTATTCTCAATGGACACAGACCAACAGACCAGTAGAAAAATACACAAGAATGTTGTAATATCATCATTTCAAAAAAAAAACACAAAATTGAATATACTGGTGGAGGTAAATAAGCCAGGAGAGTGATGCCAAACAGTTTACATCCAAACTATAGAGGCAGCCCAATATTCCACTTAAAATTGACCAAGAAATGAGTTATGAGACTGCACCATAACCCAAAACACATCAAACAAAAGTATCCATTCTCCCTTAAAACTGTATTCCTACTGCTTTTTACAAAAGTGGTTATTTTGCCTTAAAGACATTATGTTGTAGTTATGGTGTTTCCAACTGACTTATGGAACATTCAGCTTACTCATAACAAAACATTAGCACTAATAGTGCTTGGTATTTTAAGGCAAAAAATAATTCTTCTCTAAGCCTATCCATCACCATTCTCACATGCCAAGCCTGCTCCATCCATGAATAATTGAGAACAGATGCATCACTGAACACATTAAAAGGCAAATAAATGTAGAAACCAAAGGTTCACACTTCAATTTTAATACTTAGCAGAACTGCATGAGTTTGCAATAATGTAAATCATGCTTGATGGATTATTTTCACATTAAAACTGGAACCAGTGTTACCGCATGTTATTTTTTCATTTACAATGTTCTGATGTAGAATTCACTTAGTGTTTAATAATTCACCATAATGCAAAGAAAACCAATTAGATTTTTTAAAAAGCAAGTTTTTTTTTCTTTTCTGAAACTTTAATTCTTAAGATAAAAAATAAAAAAATAAATTGATGCCATTTATAGTACTGTGTTCTATTTTGGCATTCACACTTGGTAAAGGGACAGAGACAAACCGAAAGAAAGTGAAAATTGATCCTAAAAGGCAATATGCTACAAACAACTGAAGGATTCTGGGATATTTATGTTAATGTATAGACAAAATTATCCAAATGTCTCTGTGGGCCTAACGTACAGCACTCAGTTATTGTGTCTTGTTATGCATCATTCTCAGTTGTTGCTATTCCTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTTTGTTACCCAGGCTAGACTGCAGTAGTGTAGTCATGGTTCACTGTAGCTTCAAACTCCTGGGCTCAACAATTCTCCTGCCTCAGCTTCCCCAGTAGCTGGGACTGTAAGCACACACCACTAAACCAAGCAAATTTTTAAATTTTTTTTGTAGAGATAGGGTCTTGCTTTGTTGCCCAGGCTGGTCTCGAGTTCCTGGCTTCAAGAGATCCTCCCAACTCAGCTTCCCAAAGTGTTGGGATTACAGGCATGAGCCACCACACCTGGCCTGTTGCTGCTTTTTAGTTTTTGGCATCTCTACCCGACTTTAAGCTCCAGACGGTTCAAGGACCCTGTCTGTTCTGCTTACCTTTGTATCTACTACATCTACCAGAGTGCCTGACAAAGAACAGGAACTTACTATTGTTTTATTAATGTATGAATGAGTAAAGATTGTGTGTGACCCATGACTGTGTGTGACCCAACGACTAAAATTAACTACAATGTAGATTTTGGCTCATTATAAGGTTGAACATTTTCTATCAGTCAGAACCATTTACAGTTGAGAATGGCTGCTGAGGTGTTTAAGTAGAGAAAAGGCTACAAATAAGCATGAGTGTAGCAAACAGGATTCATACTCTTGGGTCCTCTATTGGACCTTTTGATTTTGCAGATGCTTATGAGCCCTGAGGCTCTATGATTATAACACAGACCCTTCCCAAATCTGGGTCATAATTGAAATTATAATCATCAGGACTTTCTTCTGTGATAGAACTTATACACAAATTTTCAAACTAAAAGAGGAAATTATTTTCTTTAGCTTTAATTCTGAAAACCTGTTTAACTCTCACATACCTTCTATTTGGCTGTATGTTTACCTTGCATCAGTTGAATCAAAAGGCAATTTAGTATCAGCTTTACCTTAAAGATTTCCCTTTTTCTATGTACTATGATCTCTTTCAAAATGCATGGCACAAAGGTTGACTTAATAGATCCAAAATGGTATTTCTTACTAAGAAGGATTTTAACATTTTGACCATAAGGTAGGAACAAACCATGTTATAAGGAACTAATAAAGTTCACTCACCCTCACTGAATTTGATCATAGAAAATTGATCTCTACACTTCATGAAACCAGTGTCTGCTTTTAATCATAAAGTGGTTAAGTACTCACCAGCAAAGAATAATAAATCTTGAATCCAGGTTTAGCCACAAAGTAGTCATCGGACTTGAATGTGATTTTAATTTGGTTCGTTCTTGATTTTATCCTTGGAGGAACTTCCTTGTGTCCACACCATCGTCCTCTAATAATGGTACTGGTTTCGGATATATCTTCAACTTCCACAAAATCATACCTAGAATCAATTGGACATAATGAACAAGTTTTGATTAAAGTAGATTTTGAAATTCATACTTTCACTGAGAAATTAAAACTAGCATATATGATTTGTCATGACCACAATCTGAAATGAAAATTATAATGTACAGAAATGTTAAAAGGAAAACTGGTTTTTGGATTAGGTTTGCAAATTCAAGCTTCAGTAATCTATTCTGAGAAAACCTTTACATACATTTAGTCATGACTGTTCCTAAATCTTCAATAATCAAAATGGGTCACTTTCTGAGCATCTGGTTTTAGAAAGTTTTCTTGGAAAAACTAATATCTGTAATTGCTGGCATATTTTAGGAGATGTAACTCTAGTTATAGGCCCAAATATTAACTATATAAAGTTTTTAAAACAAATACCCACTCTGAATTAATTTACTGCATTCGGTGCTTTCTTGAGAAAGTAAATGACCTATATCTATATAGCTTACAAAATCAGTAATGCCATTACAGAAAATAAATGAATACACACGACTTGCTATATTCTCTTTTTGGAAACGATCTTTTGGAATGATCACGTCATAAAATATGAAACTTATCATGAAGGAAAGCATGTAACTTTAAGGAGAGATGTGTGCTAACCAATATTGGAAAAATCTGAGCTGGTTAAACCAGGGTGTGAATGAGCTTAAGACCATAAGTTCACCTCTGGCATTGGTCGGAGAAACTAGAATCCTGGGATTCAAGAAGACAGCAAAAGCTGCTTTAGTTATCCTTGTGGGCATTTGGTCTTCAAAGCACCTCCAGAGTGTTCCATCATTCTATCACATAGTAGGAGATCCTCAGTAACATAGTTTACATCTTCTAGGGAGCACTTATTCTATTTTCAGCTCCCTAAGATGTTGGAACCTTCTACTTGATAAGCTGAACTATTTCTTTCAGTTTTGGTCATCAGTATCTCGCTCCTACAATCTACTTTTCCACAGTGACTTCAGATGCTGAGGTCACAGGCAAATGATGGGCATTCAGGGTGAACAGTGGCAGAAATCTCACATCCATATTACAGTTTTCTGTTACAATCATCAGAAGGAATCATCATAAGAAACATTATTTCTGAATACATAGAGAAACCAATATGGCCTTCCTGGTCTTACTCATGCACCTCAGAGCTCTACTGGATTGGGCAAGGTAATGTAAAAAGAAAGTAAAAAATAATGATATTGTGACTAAATTTCTCTAACAGTGATTTACAAGGCCCTTATGTCCGTTGCCTCAGTTTCCTTATGGATAAAATAAGAAGGCTTATATAATTTTACCAGCTCCATATCTCTTGGGTGCTGTGTAAATTAATCACTTAATGTTTATATGGTGCTTGGAAGGTAAAAAGCACTAACAAAGTATCATTATGCAAGCAACAAAATATTACAATGTAAACATCAAGGAGGCTTTGGAACAGATGGTAGGAAATCAATTCCATTTCATTTTGTATACAATACATGTAAATCATATTTACTGCACAAAGCATGACTATAATTGAAACTTTTAATAACACCATAGGTCACTTTTGTTTAAAGAACACATCATTGTAACTTTAACTCTGAACCTGAAGTCAAGAGAGGGCTGTTTTATCTCTTAGGGAGGGTTCTGAGACAAGTCTCTGGTCTGTCTCTTTCCCGTCTTTCTCTCCTCTTTTCTACCTGCTATACTTCTACTTCCTTCCATAAATTTTGAGGAGCAACTAGATTTGATTAATGGTTCAGAAAGGAAACCATCCTCACTGTTCCTCCCTTAATTTCAAGGCCAGGATGTCAAAAGGACTCACTGCTAGGATCAAAACTCCAGCTCAGTAGTGGAGACCTGGCTTCCCTTCTGTGATATTGTAATAATAAGAAATATATATATTTGGTCTTTGTTCCTGGCACAGGCTCCTAAAACTCTTGGAATTTCTGAGTGCTGGGGTTAGAGGAGCATCTTTTTTTATTCATAATAAGCCCCCTTCCAACCATACCAGAATTTATCCTAATGAATAAATTCATTGCCTTTTGGAAGTACCTGTTGGGAGGCCCCGAGGTAGCTTCAGAATGGAGGCTCATCACCAGAAAGAACAAGACATGATTAGAGAGTTGTAAATTTTGGCTCCACCCCTAGACCTCTGGGGAGGGAGAGGGCCTGGAGATGGAGTTCAATCACCAATGATTTAATTAATCGTGCCTTCACAATGAGACTTCCATCAATACTCTTCTAGGCTGGTGAATACATCCAGGTGTTTCGAAGGTTGCAAACCCAGAGAAAGCACTCTTTCCATACATCTTGCCTATGTATCTCTTTCACTTGGCTGTTCCTCAGTTGCATCCTCTATAATAAACTGGTAATAGCAAGGAAACTGTTTCCTTGAGTTTTGTGAGCTGTTCTGGCAAATTATTCAACCCAAGAAGAGGGTTATGGAACCCCTATTTACAGCTGGTTGATCAGAAGTAGGAGAGGCTTGGAAGCTGCAACTGACATAGAACATGGAGGCAGTCTTGTGGGACTGAGCCTTAACTTGTGGGATCTGACACTGATTCCAGGTAGTGTCTGAATTGAATTGAATAGGACAAAACAAGCTGGTGTTGGAGGATTAACTGCTGTGGGAAAAAACCCTCACCTCACAGATTTGGTATTGGAAGTGTTCTATGGGCAGAAACAGATCATGGTACCCTCCACATCATCACCTTTAATAATCTTTTAATAGCGTCTTTTTCCCATGATTTTTTAGGCACAGAATATTAGTTCTTTTTTTTTGAGATGGAAAAGACGCAAGATCAGCATTAGTTTATTCTCTTTGTAAATATTAACTGGCTCTTCCTTAATGTATTCATCTCTGCTTTCTGGCATACATTACCCTCTATGGTCCTAGAAAGTAATAGTCAGTGCTGTTATTCTCAGCAAAATAGCAACATAATAAAAGCTGTCAGCATAATAAACATGCAACAGAGGACAACCAAATTTGAGGCCCCTCTTTTTATTATTCAAAGGAAAATAAACCCGCTGAAAGGATTTAGCAGTTCAGTAGTTCATTGGCAATGCAGAACAAGTGTGTGCAGTAAAGTACAAAAAAGAAAAAAAAAATCTTCCTCAAGTCTTATACATGCTAATTAAGCGAGTAAAATGCTGTGAGCGGACATTCAAAGAACAACAGTCCAGGCTTTCTTTGATAAATATGCTAAGAAGAGAGAAGATTATCAGACACAGCTTTCATCTTCTACTTGTGACCCAGAAACTGCAAGAAACAGACCCTTCTGAGGAGCACAGGGAATCTGGGGTGAGCTTTCTCTTCCTTCCCACCCGTATCTGAGGCCTTAACACTATGAATTCGGGGTCAGGCCCTGATAGCTTCCCCAACCATCATCTCCCAGTGCTGGCGTAATTCATTATGGGTAGGAAGGCCTGGGTCAGCGGGAGCCGGGCAGGGGTTTATGCTCCCTAAGCCCATGGCAGGCTTTGACCACACATGATGCAGCTGCCCGTAACCTGGGATGCTGGATACCTGTGCATAAATGCTGCTCTGTGCCTGGAAAAGGAGAGGACCTCCAGATTTCACCCTTCTTTGGAGGTCACACAGTCCTGACAGTTGCACAAGTGAGTTTCTGTGAGTACTGCCAGGTTATTCGGCTCTCTGCCTCAGCAGTCTACGCTATCTTGTCTGTTAGGGTCTTTAGGCTTTTTGAAAAAGAAGCGACACATGTTGGGTCCATTTAAAAGGCTCAAAAGGAATGTTTGATACGATGCTTTAAATTCATCTTTTTCTTTTTTCACCTTGAAATAGTACCGTAAAAATTTTTTTCCCAACTTACCTACAGATATCATTTTCTGCTTCCTCTAATCCAAACTGATTGTCAAACACTAGCTGTATCCGTGTATTCTCCTGAGAGTGAAGCCGCCATGTCAGGAGCAGGTTCCTGGGGTAGCTGTTCGGGAATCTAGGACTCTGCACGTAGCCGTTTCCTTTCACCTGGATGGTCTCATCTCTTCGGTACAAGTCTGTGAGGTGATTGCTCTCTGTTAGTAGTCACAACTTGTAGAAATTAGTATGTTGCTCCAATTACAGGAAAGTCAAAAAAAGAGAACAGTTTACAACACATCATACTTCAAAACACTTCTTTATTTTGCCTAAAAACATTAAGTCTAAATGCAAATAAACAAACTTTTTTTCTCACACTGATGGCGTAGCAATCTATGTCCAGTGACTAGCATCTGAGATACTCAATAAAGACTGCTGAGTGAATGAATGAGTGAAAAACAAAAGAAAAGACTCTAGTGATGTTTAATGACCCTTTATTTTGTATTCAATTGATATTCTCCGATGGGTAACCTTCTGCCTTCTATTAAACAAACAACACATCTTTCTTCTAGTATCCCCCACCTCCCTAAATTCTTCACAAATCCACCCTTGATGTCTGTCTAACTTTGTACTTTGGGAGTTCTCTTAATATCATTCTTGACAAGCAAAGACTAACAACAATCTCAGAACTTCAGTTCATTTAGTATGGATTAGAATCAGCAAATAATTTCATCCATCCTTCCACCACGAAAAATCATAATTTTGTGTCTTGGGTTTTCTATGAGTTAAAATAGGTCCAATTCTTACTGTATTTTCTCTATGCTGTTAGCCAGATAAAAAGAATTTATCTGGTTTTTGTACTGGGTTCTTGGAAGAGAGTTTCCAAACCCTTGGAATTTCTCACGTCATAGAAATATTTTTGTTATTCATGATATGGCCCCCGGGACCACGTCTGAATTTATGCTAATGAAGTGACTCACTGTGGGCCCACAGATAACTTTAGGATGGGGGTCGGCCATGCCAGATAGACCAACCATGTGATTAAGGGTTAGGGTTTGGAGCCATTATGACATTCAACCTGATCTCTCTCCCAACCTCTGGGGATGAAAGACGGATTGAAGATTGAGTCCACTCATGTTGATAATGATTCCATCAATCATGACTGCATAATGAAACTCCAGTGAAAACTCTAGACACCAAGACTTGGGTGAGTTTCCCAGGTGGGGATACACATTGATGTACTAGCAGGCTGATGTGTCCCGAGGACACAGAAGCTTCATGCTTGAGACCCTCTCAGACCTTACCCTATGTGCTTCTTTATTTAGCTGGTCCTAATTTATATCCTTTATAGGAGGACTTTAATTTTAAGTACAGTGCTTTTCTGATTTCTGTGAGTTGTTCTAGCAAATATCAAACCTGGGGGTTTATAGGGACTCCCAAATTTATAACCAATTGGTCAGAAGTGCAAGTGAGCTGGGGTCCCCCAAACTTGCAGCTGATGTCTGAAGTGAGTACCATATTGTGGTGCTTGTAATTTTAACCTGTGGAATTTGGCCTAACTCCCGGTAGTTTTCATCAGAATTGCATCATACAGTGGATCCCCTTTTCATCTCTCTCAATATTCAGAGTTCATTGCATTTTGGATTTTGGCTTTTTAGGCCCCACCATAAACAGACCTCCAGCCACAGTCTATTTATGTTATCCTGCAGAGAGTTTACTTTGAGGACTATAATTCAGTGAGCCTGGTCAGGGAAGCTATGCTTGCTGGTGGAAACCACTGTAAGGTAGGGTTTCTGAGGGTGGCTGTTAGAGCTTCCAAAAATAAGACAAAGAGGATAAGAATTGGCATGTGAAGTACAAAAGTCTCTTTTGCAAGTGATTTTGCATATGGGAATTTAAACTTTTTTTGGACTCATTTAATGTTAATGTGTTGCAGCTTGTTCAGCTAGACTTTGTGTGGGAGACAGAGTCGTAGGAAAAGCAACGGGTAGTTGAGGGATGTCCCCACTCCCTGCCTCCAGATGAAGGCAGTGGCCTGCAGTCATGGCAGCACTTCCAACAAGGACAGCAAGCAGACAACTTCCTAGGAGACGAAAATCATTTCTGCTCGTTGAGTCTTTTCCCTTCCCTTGATCTTATGCTTAAAGATCAGCTGCGAAAACTGGTGTCTGCTCATTTTGTCATAAGGGGCTTTTAGGCAATGGGTCTTGATATGGTTTGGCTCTGTGTCCCCACCCAAATCTCATCTCTAATTGTAATCCTCACATGTCAGGGGAGGGACCTGGTGGGAGATGACTAGATCATGGGGTGGTTCCCCCATGCTGTTCTCGTGATAATGAGTGAGTTCTCATGAAATCTGATGGCTTAAAAGTGTGGCGGTCCCCTGCAACCCCTGCCTCCTGCTGCCATGTAAAAGGTGCCTTGCTTCCCCTTCACCTTCTGCTATGATTGTAAGTTTCCCAAGGGCTCCTATGCCATATGGAACTGTGAGCCAATTAAACCTCTGTTCTTAATAAATTACCCAGTCTCAGGTAGTTCTTTATAACAGTGTGAAAAATGACTAACACAGGTCTGAACACTGTTTTCTAGGTTGACTGATTTGAGCTATTAGTCAGTCAACAATTATGTATTAAGCATAGATTAACCATATTGTATTATAGTATTTTCAAGACTTCTATCACTTGAGTATTACCCTTACAATTTTTGCCACATTTTTGTGCCTCTAGTGCTATTAATTATTTATTAGTTTCTCTCTAAATTAATATTTTAATCAAAAGCAAATTTATTCTAAAATAAAACTTTATGCCAATAATGTAAATGGCAAGCAGCCATCATTTGCCATGAATAGAAGGTAACCATGAGTCTAAATATATTACTATTAAATTTTAAAATATCTATCTCAGGTATTCAGATTCCTCATTTGTATAAGTGAATTGAGCATCACATTTTCTCTTTGGTCTTTTTCATGGGTATTATATATTCTTTCTTTACAGTTTCAGATGCTATGTTAGATCTGGATAGAATTTAAAAATGTTTAAAGAATGGTTCTTGTCTTCGTACACTTGGAAAAAAAAGTTGATGCATACTGCACAAATGTAAACAGGCAAAAGGGAATATTAAGTGCTGAGTGTAAATGCTGTGGTTGCTCAAAGGCCAGGTGAGCAGCAAGGGCTAATGTGGAGAATGTGTACATATGATCCTTGCAAGAGGCCTGCCCAGAACAGAGCCCAAGTGAGACATAAGAGGCTAGAAGCTTTAAAGGAACTATGGAAATATTTGAAAGCCAGGCAGAAATATCTCCACTTGATATGGGTACAAACAGATCAGCCCTGGTGTGGGTGAATAGTTTGTTAAAAGGAAGATTAGCCTGTTGGTGATACAGTAGACAAACTGGAGGGAAAATGCCTGGAGCATCAAGGTCTCCTAGGAACTAGAGGTGAGGGTAACAAGGTCCTATTCTGGAAGGGCAGGTGGCAGTGATGCCACTTTGGGGGAAAAATAGAAAGGAATGTAAAAGTATTGGTTAGAGGTAGCAGCAGCATGCTAAGCCTAGAGCCTGGGCTCAGTGTGGTATTATTGATACTCAAGGATGCTGCCAGGGGAAACATTTTTAGAGGAATGTAAGTTTGGTTTTGAAGTGGTGATGAGTAATTCAAGTGGAAACTTAGCAGGCTTTGGGGTTACAGAGCTAGCTGAGAGAACAGATTAGACACAAGGCCTCAGCTTAGAGAGGGGAGAGGAGGCCTTGGGAATCAGTGATCCCTCTCAAGAAGTGTCCTGAGAAGGGAAGGTGAAGCTTGGTGCTGGCAGACATGCCCTGGGAGTGGCAGATGACAGAAGGAGTGCCCACCTGGAGCAATGGCTGGGAAGGAAGCTGTGTGTAAGTCAGGCTGCCCAGAAAAGGGACAATTTCAAGGACAGAGTGGTCAATAAAGTCACATGCAAAACAAGACCAGGGGACAATAGACGGAGAAAAGACCACAGAACTTGGTAATAACAAAGTCAATGATATCCTTTCAAAGTACACTTTTAGAACTTTTCTAAGTATAAAAGGGGACTCTTTTTTCTAAAACATCATTAAAGTCTACACTGTCTTAAAGGTATTAACTCTGGTTATAAATGAATGCCAATTACATTTTTATGAACCTGTAGAAGGGGTGGGGAGAGGGGCTTTCCTTCTTATGTAGTTTGATTAAGACAGTACAGTCAGCCCTCCATATCCATGGGTTCCACATTCATGGATTCATCAACATCAAATTGAAAATATTTATTAAAAACAGGATGCTTGTGTCTGTGCTGAACACATACAGACTTTTTTTCTTGGCATTATTCCCTAAACAATACAGTATAACAACTGTTTACATAGCATTTATACTGTTTCTAGAGGTGATTTCAAAATATAGAAGAGGATGTGCATAGATTATATGCAAACAGTACATCATTTTATATAATGGGTTTTGGTATCCTTGTGGTATGTGGAGCGGGAAGGGGTTCTGGAATCAATACCTCATTAATACTGAGGGATGACTATATTCGTTTTCAATTTCACAAATTTGTCAGAGACCTATGCTGCAGTATTTTGAACTACAGGGGAAAAATAACAATATTTCAGATTTATTTTTCCTTAAAAAATTCTGCCAAAAAATACACCTGAACAAACAAAATATGCACAACAGCAAACACTGCTAATTATGCTTATTTTGTGCCTGGCATTGTTCTAAGCAATTTGCATACTTCATTTGTAGGGTCTAATCACTTTATACAGATGATCTCTTGTGTGTGTATGCATGTCCATATATATTTATAACGACTTTGAGATAGGTATTATTACCACCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTGTCTCATTATGTCACCCAGGCTGGAGTGCAGTGGTATGATCTTGGCACACTGCAACCTCCGCCTCCCGGGTTCAAGCAAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTATAGGCACGCACCACCATGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGGCTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAAGTCATTACCACCATTTGACAGATGAAAATTCTGGGGAAGAGAGAGGTCTAGTATCTTGCTCAAGGTCACAGAGCTAGTGAAAGGTAGAGTTAGAATACAAACCAGGCTATCTGGTTCCAGAGTAGATGCTTCTAACCACTGTACTATAGAAAGTGTTCTTCCTTCTTAGTCTGAAATCTGCTTGAGGCAATTTTAGATTCTTTGCTACGGGTAATTGTGTAATCCACTTCTAAGTCACACTGTTTACATATAATTTAACTTAATGCCAACTCAGGGCTATTCTTAGCAGAAGAGTTGTAATGAATTATAGATACAAAGAACAACCTCTCAGGTTAAACCCGAGATAAGTACCAAAGTATTATACACAAAGTCACATTCCTAAACAAAGGTATTTACTTTGGTGTTCCAATAACAGCTAACATTTCTGGAGCAACTATTGCCAGGTACTCCAATAAGTGGTTTAAAGCCATTACTTCATTTAATCCTCACAACAACCCCATGCCATTGGTATTATCCCCACTTTACAAAGGAAGTTCTGAAAATTTAAGAAACTTGTGACCTCAGGCACAAAGCTTGTGGTGGAATCAAGATATGACCTTAGGCAGTCTACTACTTTCAGAGCACACATGCTTAACCAGAGCACTGTACTAGCTGTTAAACTACAAAAATAGGAAAACAATCACTTTTCACAGAGAGGAAATAATTTTTATGTATGTTTATATAACAATGACATAGTTTTATTTTGCATTTTAACACAGAAAGATGTTCACATCCTCATAAACTCTGAGGTACGCATTTGACTTAAAAAAGGCAATTAAAATTTTTAAAAAGCCAAAATGTTATATAATTGTCTATTTTATTCCCAATTGTTCAGCAAACTCAGCTCACCCAACCAAGTACCCCAGGAGCTCATGAAAGTCACTGTAGGCACTATTACTTATCCCTGAAATCCATCTAGACCAATGGTTTGCTATATGTGGTCCCCAGAGCATCATTATTAACATCACCTAGGAGTCTGTTAGGAATGTAAATTCTCAGGTCCTACTCCAGACCTACAGAAGCAGAAATGCTGGGCACGGAACCAAGCACTATACATATTAATAAGTCTCCAAGGTGATTCTGATGCACCCTAAGGTTTGAGAACCACTGACCATATCATGATTTCTATTTTGCTTCTTATTCCTACTTTCCTGCCACCTCTTTGCTTTGACTCTGTAACTCAAGTCTGGTTTTTCATTTTGTGTCCTTGACTGACAACCTGTTGATATGGACAGGAGTCAGAGAAATACTGGGTAGAAGAGGGTAGTTCCCCGGCAAAGGCCCCACTCTCAAGCCTGGAAATCCACAGCCCTAAATGGGAACAGGCATTCCTGTTTTTGTTCCCAAAAGTTGCCTTTGGGTCTGCCATGCCACCCTATCCTGTACCCATAATAACTCCAGACCCCAGGCTCCAGAAGCAGATGAGGAGGAGACGAACAGAAGTGCAGAAGAATGGACGAACAGCGTGGCAGAGAGAAGAGAAGGAGCATCTGAATATCAAGAGGAGTTCAGCTGGGGGCGGCTAGAGAGGAGACCTGCTGCTGGACAGCCAAACTCCAGGGAAGAGTATATTCCCACTCCATCCCCCTTCCAGCTCCCTATCCATCCTGGTGAGAGCCGCCTCCACCATTCAATAAAACCCCCACATTCATCCTTCAAGTCCATGTGGAACCTGATTCTTCCTGGATGCCAGACAAGGACCTGGGTACCAAGAGGGCATGGAGCTGGTTAATACTTAAGCTGTCTGTGGACAGCAAGGCTAAAAGTGCACACTGTATCACGTGCCCATTTGGGCTTTGGGAGTTGCAGATACCCACTCCTGGATGTTGCTATGGGAGTGGACCCCAGGGGTCTCATCTGCGTGCTCCCCCTCCTGTAAGGGGTTTGAGTGTGCATGACAGCTAAACAAGAGGAGCCACATGCCTGTCGCAAGTCCTATGCGGGGGATCAGGGAAGTATCCCGTTTTACTGTCTTGGGCTCACTTTTCTATTTCCGACCTTGGAACCTCCTCTAGGATGTCATTTCCAGTATACAATGACTAGAGCAAGAGGCTACACACCTTGGTGTCTTTGACTGCCTTTGACAGTCTCACCCCTTATCCAGCTTTCCCCATTCATGAAGAAGTCACCCCTGGCCCCAATAAATGTATGTGATAATCCATCATCATATATAATAATGCTTAAGGAGAAATGAAACTATGAATAATGGTAATGTTTTTCTTCTCATATCATAATATTATACATGACAACATAAGATGCAAAAGGAAAATAGTTGTTGAAGTAAAAATTAAAATATTTGATCAAACAGTGATATAGTTGCAGGCTGTGCCATCTCACACAAACTCAGTGGAACACTACAGACATGCCCTTTTTCTCTTGTCCCCATAAGACAGCCAGGAACCAATAGCATGACTGATAGTGACAAACCCTTTTCAGCTACAAGCCAAAAGCAATCAAGAATCAGGAAATTCCAAACTTACAAAAAGATCTTTTTAACAAAATATCATTAATAAAAGTGCTGTTTCATGATCCTATAATATGTCATAGCAGTAATGTTTGCCCAGAATGTAGTTGAATGATATGTAAACTATATAGTCCCACTTCTGTTGCTAAACAACCACAGTAACCTAAATTTGTGTGGGATGCAGTATAGTTTATAAACACCCATTTTGCAAGTCCATCATAGAAATAAGTTGACAAAATAGGAAGCAAATATTATACTTTCATTCTGTTTTTTATAATAATTGTTTTGTTGTTACTTTAACAGGTAACAAAAGCAACAGAGAGAAGTGATTTGTTGCAAGCCCAAAGAATGGAAGCTTTCCATATTTAAGAGCTGAGTCTTAAAGTCAGCTCTACCTCTTTCAAGTCCTAGTAACTCTTCCCCTATATTACAAACAGCAGCATTATTCACACCATGTCATCCCTCTGGCTTCTGTTTCTCAACCTGATACATTAGGGGGCTGAATAATGTGGCAGATTCCTTTCAGGTACAAAATGACATGACACCTCAATAGTTTTCTTCCAAGGGGACAGAAATACCAGTGGTTGGACTATGGGTAATAGATAAGATTAAACAATGCTCGGAAAATAAAATCTCAAATCTCAAATCTTCAATGGGTAAGTGGTCAAACACTTTTGCTAACTATATGTAACATTTTATTATATTAGCATTAGATATAATAGATATTATATATAGTTGTATGCCATCATCTGAAATAAGAATACAAGTTGTTCAAACACATATTGTTTGGAAAAATCTCTATTTCTTTTCAACTAGAAAAGTGTCCCAGGCACATAATTATCCACTTAGCACACTAATTTGTGTTGAAAACATTACGAAGGAATTAAAATAAATGTTTTAATGTAGAAACAATGTATTCTATCTTTTGCTCCCTTTAAAACTAAGTAAAGACTTCTTTCTGAGTCTATCTAGGTAGAAGAGATAAAAACTGAAGATACTCAAAAGTGCTGTATAATTTCTTTAAAGTTTCAAAGGAAAGTAAAAAATAAATCATATTGGAGAAAATTAAACTCCTGAGGCAAAGGACTATGTCTTGTTAATCAATGTAACCCCAGTATATTGCCAGTCTGGGCATATGAGGCACTCAAAATATATTTTTAAAAAACATACATGGATGAATGGTTAACTACAAATAGTACATATTATATATGCATATTATAATAATAATGCAAATTATTAATACAAACCTGAAAGACATTTAAAGATAACAAATAAAAGGCAATTTTATCAGAAATAAAATTGTAAAATGCCCCAAATATTTCACTTCTAAGAAATTCATATTAATGTAGCCAAGGGCCCTATATTTGTGAGAACACATTTAGCATGAACATTAAGGGATTATTTTTGGAAGAGATGCATTTAAATGATCCTGCTTAACATCTGGTTTATATATTAATTCTGAAATGACTACTTACTCTGTCCTATTTCCATTTCACAACCTACCAGTAGCACCAGAGCCAGGCCCTACCATACTTTAAGAAGTTGTGACTCTGAAAGAAAAGAAGAAAAATGCTGTAACAAAAGTAAAATAGTTTGCTGTTATATATGGGGGCTGCTCTTGGATTTATTAAGCAATATACAAAATCGGTGACTGACTAGATTCCATAGGTTCTCATCCTATGCAACCATTTAATTTAGAGTGGCAAGCTCAGCAAAATGAATCAAAATCAGTCCTGTGTCTTGCAAATGCATTATTATTATTATTATTATTATTATCATTACTACTCAATGACCTCAAGTAATTTCTGCACTCTTCCTCAAAGAATCAAAACACAGTAAAGTGTCCTAAGATGCAAAACAGTACCTTAATTGATGAGACAATGTGCGGTGTTTTGTTGAAGCAGCAAAAAAGAAATGAAAGAGATGGAAGATAGAAAAGAGACTAGGGCAGGAAGTCCTAACTTAAAAATGAATAGGTCAATTTGTACAACAGACCCTAAAATATGCAACTTGGATTAAATTGAATTTAATTAGATAATTTTCCATAAATTATCTCCTAACTTAAAAAGTACAGGGTTGGAGTCTCACCATGTGAACTGATAAAGGTGAAAATTAGACTCTAACAATGTTAGTTTAAAAATCAGCACGGAAGCTTTTTCAGCTTTTTCCCCCTAGTGTTTGCTAACGCACTGAAGCTTGCAATCAATGAGCTGAAGTCCTCCTGGGACTATTAATAGGACGGTCTTCACTAAGGAATTTTTGGTTAACACATGTTCCTAGTGAGAATTAGTCTTCCAATAGCTCACATTAGCTTTCCAAAAACAACATCCACCTGTGCTCAGTCTATGGCCTGCCATTAAGAAACTCAAGAGCAAAGCTGATTAAACATCAGACATTTATTTAGAATTCTCCAGCAGAGATTTTTCTAAGATCTCAGTAGTAATACAAAACTTTTCTGTTTATAAAGATTTGGGGAAGGAGATGGTTGTTTGCCAGTTACATATCTTTTTTTTTTTTTAAACATTAGAGCTCTTTTTGGCACAAACAAAGATGTTAATGTTACATAAACAGCCATGCTCACAGTAACAATTTGGAGACAATGTTTTTTTGTAATCACTTGATTATTCCCTGAACTCAAAATTATTCTTCTTCAAGAATCTGAGTCCACCAAAAAAGAATAAATGAAAAAGTACCATAAAGTCCTCTTGAATACTTGCCAGAAACACTCACAGGAGTGTAATAATGCCCAAAGTATTATATTCATAATTATTATTCTTCACCTCACTAGAACTTTTAATGTACAAAAATTTGTTTTGTTATTGTACATTAGTGAGCGATCATATTCTTTCCTTCAAAATAGCTTGTATTTTATAGGTAATTACAGAAATGATGGTAAAATATTAAAATGGAAATAATTTAACTTTCTGAAATGACTTTTGGTCTAATTTTTAGAATATTTGAATCTGGATAAAGATTGACCCAAAATAACCATGGTAGATTTTATCACATTCATATTAATTAATTCTCTGATAATTCTCTTTTCTTCTATGGTAGTCTGTTTGTGTTGCGATATTGCCACTTACATGTAAAGAATGTGAAAAAAATGAAATAATAAAATTCAGAACTGTGAGGGTGAAGGGAAATGTTGAATGGCATGGTAGAAAGTATTACAGTATCTAAGGCTCCTGAATAGAGAGATCCTTTCCATAATACTAACTTAACACCCAGAAAATAATAAGACAACCACAATGACAAAAATATCTGCTTTAACCACTGCCAACATAGCTCAGAAACACAGAAAGATAAGAGGGAAAATAGAAAAGTCATACCCAGGAGTAACAAGATTTAGCATTTTTTCTAGAGAACATTTGTTATAGAAAAACCAATATTTTTATAAATATTGTCAATAATGAGGATTTTCTCAGAGTAACTTTAAGAAGTAACCAACCCAATAAAGTTGATGTGGAATTGAACAGTGTGGATCAGAGGCAATGATCGTAAAATATCCTAATGCTTAAAGTGCTAGTCTGTACAGACAAAGATGAAAGCATTTTCTTAGTCACTTCTGACTAAAGGGCTCACAAATTCCCAGGAGAAAGCTGAGAGTTAGTTTGGTTTATCACTTGTGATGTATATAAACTTATGACTATATTTAATATGTACATTAGTTACATATCACATAATGAACACATTATGTATATTTATAATTATACTTAAAATAAATTTTTATTAAATTGTATGGCTTCAGTGCTATTTACGGATTAAATCACTTTTCAATACCAAAGTCATTGCATTCCAAAGTAATTTCTTCGCATGTTAACATTTTAAAATAGGGAACTATCTTATGATTACTGTTAAATGTAACTGTCCAGCTGTCAGGAAGAGGAGCAAGTTGGGACAGAGTTTTCATAGATTTTGTAAGCATAAATTTAGTCATGAGTAGGAGATAACTGTTCATCTGATTTCAACTTCAAATATTATCTTTGGTAGCATAATATATGGATGAATTATAATGTATTTGGATAGCTGTCACTTGTAAAACATTTATAAAGGTTGTACTATGATGCAGTATCAAAATTTTAAAAGTGTTTGTGAAGATAAATGAGTATGGAAAAAGAAATGAAAATGTAAATATACTAAAAAAATGAAGAAATAATATCACATCCATATTCTCTGGTAAAAAAAAATATTCAAGTGCTTTATGGGACCAAAGCTGGGAAGATGTATTAAAGTAAAAATTGTATTTTGATTTGTCACTGATGCTCAAGGAAATAAATTTCCTGCCTCTCTCAGAAAATGCAATTAAAAGCAGTAGAAATTATGAAATGTCTCAGAATAGGCCAAATAATTAGTAAACCTATGAAAGATTAATGCAAATGATTCCCGCATTATGATGATGATAAATAGCTACCTATCAAAAGTTGGAGGCTTTCAAGAGAATTACTTAACATCTAGTGATACCTAACCCACATAAGCAGAAAATGATACAATTAATGAAAATTCAGATGAATTCCTAGCATTCTTTGATATTTCTCGGAATTATCTGGAGTCCTAAAAGTGCACTGTTGATCAAATCATAATAACACACACTGGTTCTGAAAAAGGTCATGTTACTTTGAAGCTATGTATGAATACTGAATTACCGAAGTGATTTAAAAGACTTCTGTGATTCAATGTAAAAAAGGCTTGGATTTGGACTTTGAGATAATAAAAGACATTATACTTTTCTGGATAAATGCATGCTATTATCATTTTATTAAAAAGAATACTGTGTGCTTTTAATGCAGACCTTTTATTCTCCCCCAAAGCTATTACTAAGTCAATGCTAGGTCATACAACGGATGGTGTTTTAGAATGAAACAAGCTTTTTGTTTTCTTGTTAAAGCTCATGCTAACAAATCTCTTCAAATATCTTTGTGTAGACTACTGTGTCTCCTCCATGGACTCTTCCCTAACGTGACTCCAGTGGAGTAGCATTAGTTAGGAAAGGACAGATTATACTAGCCTAAATCTTAGTGGTTTTAAAGTTTATTTTTTGTTCATGCTACATGTCCACTTTGGGTTGGTGGGGCTCCACTTCATGTTTTCTCACTCCGAAATCTGGGAAAATGAACTTTTAGTACTGTAATATTTAGAGCTATGCAGGGGAAACCAGGAGATGAAGAATGGCCTAAGAAAACCACATGGCCATGTTATGGACAAGAGGCAGGGAAATACTGGGTAGAAGAGCACGTTTCCCCTGCAAAGGCCTCACCCTCAAGCCTGGGCCTGCGGCCCTAAATGAGAACTTCACAACCCTGTTTTCATACCCAAATGTTGCTCTTTCTGAAACCACCCTGGCCCACTATGTCCCCCACCCTGTACCCATAAAAACCCCAAACTCCGCTGGCAGAGGAGCAGAGCAGTATGGCAGAGAAGGAGAAAAAACAAGTGTCTGAATGTTGAAGTGTCTGAATGTGGAGAGGAGCTTGGCCTGGGACAGCAGAACTCCAGGGGAAGATTATCTTCCCAATCCATCTCTTTTCCTGCTCCCCATCCTGCTGAGAGCCAGCTCCATCACTCAATAAAACCTCCACATTCACCATCCTTCAAGTCTGTGTGACCTGATTCCTCCTGCATACCAGACAAGAACCCAGGTACCAAGAGGGCAGGGTATAAAAGGCTGTCATCCTGACTCTCCACTGAGCTGGTTAACGCTTAGCCATCCGTGGATGGCAACTACTAAAAGAGCATTAATTGTAACACACCCCTAGATGCTACTGTGTGGCTGGAGCCCAAAAGCACTCAACCCAGCCTGGCACCCGCTCGCCTGCATGCTCCCTGTCCTGCAAGGGGTTTGAGTGCAGCAGCCAGTCAGTGAGCCATACAGGACTGTTGCAAGTCCTGTGAAGGGGTCCAGGGAACTCTTCTGTCTTAGCCAGACCTAACTTCCAATAGAGTGGATGCCTGGAAAAGTAAAGAAGAACTGCAAACTGATGAACAGTTTAGTAGTGACTACTTCAATGGCATACTTACTTCCCATATATAAAAGCATCAGGCTTGACTTGTCTTTTTGTTTTTCAATAGGTAGCATGATCTAACCATACACTGAATAACATCTCATTGTTATTATTATAAATCATTGCAATTGTGGCAAAATAGATGGTCAGGATAGAAATGTATCTCCAAGCAGAAGATTCATAAAGATTTGATGACTACAGAGGAAGAAAAATGGTGCTGAGCTACCAAAAAATACATTTGAGTAAGTGGTCTTGATCTTTGTCAGAATTCATTATCTTTCTAGAGATAGCAACTAGGTTTTATTCAGTAGATAAATTAGGATAGTGACAGTAACCTCCAGTATTCATCTTAAGAAGGATTCTGAGCCTGTGTCTATGTTAAATAGAAAAAATGGAAATGACAAATTAACAATGTCTCGCATGGGCCCAGAAACATAGAGACAGAAACATTTTTGCCATCCCTTTATATAGCTACTGAATAATATTCTATGTCTGTTTCTCTACATTTTTGCTTCCTTCATGCCTATTCCACAAGACCTGTACTGGTCTGCTTATGCCTGCAATCCCAGCATATTTGGGAGGCCAAGGCAGGAGGATAGCTTAGGCTAGGAGTTCGAGACTAGCCTGGGCAACACAGAGAGACCCCATGTCTACTAAAAATAAAAAGATTAGCTGGGTGTGGTGGCATGCACCTGCAGTACCAGTGACTTGGGGAGCTGAGGCTGGAGGACTGCTTAAGCTCAGGAGTTTGAGGCTATAGTGAGCTATGACTACACCACTGCACTCTAGCTTGAATGACAGAGTGAGATCCTCTCTCCAAACAGACAAACAAACAAACAAACAAAAGATAAACATGCTTTCTTGTGGGACCTCCTACGGTAATCTAGAATCTTTTTTTCAGATGAGTTAGAAGTAGCCTTTAATAAAGAATAATACATACTAGCATTTAATACATCCTGAGAAAGATGGGATTGTGTGTGCCTACATTGCTAAAAGCAACCAATTTGTGAAGCCAAATAGGCATCTTCGAGGTCTACTGTGGTTTATGCTACAAAATTGGTGAGCTTTATGGAAAAAATGACTAACAATATACTGGCATCTGTCTGGCTTCCCTGGGAGCCCATATATTAATAATAATCAAATAGTCTCTCACATGATCAGCAGAAAAGAAATTTGAAGTTATATTCTGGGACAAGACCCAAAGTAATTCCTCACTCTATCAGCATTTATTGAGATTTTACAGAGTGCCTGTTGGGAATTAGGAGCTGCATTTAGATGGTGAATAAATTCATGCTTTCATCCTAAGTATGATCCCACTAGGCAGAATGGTCAAGTTCTCAATTCCTCTGTTGCTGTTATTTTTGCAAAGGAAAAGATAGAACTTACTATTCCCGTCATTTGAAGGCTTCAAAGATATTGCTGGTGAATCGCTTCCTCCAAACTCTTAATGTGCTACTTAAAAAAATTAATTCATAAACCAAGAATACTTGCTTTTAAATCTTACTAGATTTTATTCTGAAGCACACTCAATAAAAATCTAAGTTTCAAATTTAGCTAGAGTTAGTAATCTTCTGTGAGATTGCTACAAATGACATGCTATGAGAAGCCAGCAATTGAAACAAGATTCTCTTTTCTTCTTAGATTGACAGGGTACTGCTTGAAAAAGAAATGCAGATTTTGTTTATTCTCAAGGGGTCTCAGGTGTGAACGAAGCTACATTTTAAATTAATCTGAGAAAAAAGACCAATTTTAGAGGCAAGAAGAACTACAGGTCATCTTTCTTGGTATTTCAGAAGAAAAAAGAAAAATAAACACAGCATTACCTTTGCATCTGGAATACAAAAAATGATTTTAAAGCAAATGTGCACATAGGAAAATCATCTATTTAACTTTATCCTTAAAGAAAACAGTACATTCAAAAGCATGATTTTCTAGCCTACATATGTCTTTACATTAGATCTAGTAACTATGTACTGAATGAAATGGGTTTTAATAAGTTGAAAACTGAATAAATTAAAAAGCACTAGAGTATTAGTATGCACTGAACTCCAGAATGGCATATTTCACAAAGTTACAATATCATGTGAGAGTTTTGCATGGTTGTCCAATTTAGCCATTCACCCATTTTCCATTTCTATTTTCATTTTTGGTTAAAAACAGAGACACAGACAGTCCCTTCATGCATATAAAGAGCTCACGTGGAAACAACATTGAATGACAGCTGGTTTTTACTATCAATTTCATGTTTGTGCTACAGAGTCCAAAACCCCAACAGAAACACATTCTCACAATTAATAAATTTTAAATAGTAGTAAGCTCTCAAAATCTACTTGTTGAATGAATCCCTCTGAAATTTTACACATAGGCAGAGGTCTTTTTATTTGCACAGTATCACATGCTTAATGAATCTGCTGGTCTTATAAAAGCTAATTTTGGCTGCAAATTTTACAGATGACCAAACTAAAATTGACTGAGACAATAAGGAAAAGGTGTCATCTCTCACAGGAAGTCAGGAGGTAGATACTTTCAGGTTTGATTAATTCATGGCTTTGCATGGTAGTCATGGGTTTTTCCACCTTTCTGTTCTGCCATCCTGAATGTGTTGGCTGCTCTCCTTAAAATGTGACAGCAGTTTCAGCTATCTCTCCCTCGCAGGGTTGGATTCAAGGCCAAAGAAAAGGCCTTTCTTGACATATTTCTAAATATCTTTTTAAGAAAGCGGAGCCTTTCTCAAATCCCCAAGCAAGCTTTCCCTCTGTCTCACTGGGCAGAATCTGGGCATATTCTCAGGCCTATGCCAGTCATGGCAAGGGGAACAGACTTACCAAGACTGGCTTGGACCCACACAAAGTTCTCCCCGAGCTGAGGCCCATGTCCACCCATCAGGGTAAAAGTAAGAAATAAGGGGCAAGAGAGAAGTTGGAGTGGCAAACAATGAGCAGTAATTAGCAACTACTGGGTATGTCTGTGTTTATATCAAGCTTTAAAAGGCCCTTGAAATATGCATTCAACCGATATTTCCTGAGTGTACGAATGCTACTTTAACACGGAAAGGGCACCATGGCCACTGTTCGAATGAAAACATTAATACTACACGGTTGTTGCTCTGAACAAGGTGGTTATAATCTGTTTGGTGTAAAGGTGGGATTGGCAGAAAAATCTTTTTTTCCACAATTTGCCATGTAGCACTATTTAAGAAATGTTGGTCACCTTGAAGCAGGTTTTGGGAAGAAATCTCTGACTTTTTCAGCCATGAAATATTTCTCTGCTATAGTCTGAATGTTTGTGTCCCCTCCAAATTCACATGTTGAAATTCTAACCCTCGAGGTGATGGTATTAGGAGGTGAGGCCTTTTGGGAGTGATTAGATCACAAGGCAGAGCCCTCATGAATGAGATTACGGATTTATAAAACAGGCTCCAGAGAGATTCCTAAACTGTCTACCATGTGAGGACATAGAGAGAAGGTGCCATCTATACATCAGGTAACAGGCTTTACCAGACACCCAATGTGCTGGTGTCCTGATTTTGAACTTCCCAGCCTGTAGAAATGTGAGAAATAAATTTCTGTTGCTTAAGCCACCTGGTGTGCGGTATTTTATTATGGCAGCTTGAGCGGACTAAGGTACCCTCTTTACTTAGATCTATTAACATTCCTTGGGTGTTTTTCCGTTTTTTTTGTTTTTTTTTAAATTATCCAGTATATGCAAACAAACACCAGGACATCAGATAGGAAGATTAAACCTCTATCCATTGCAGAATGAGTCACAGCCCATGTTTTAGTCTCTATCTACTTTCTCCAGTTCAAATTTCCAGTCTAACACTCAACATATTCTTCATCACTGTTCTGCCCGATCCAACATCCATCTCCATTACAGAAAATATGGTATTTCCAATTAGTAATCCTCATAAATTCCAATGCCTAAACACGAAACCGTTCAACAAATAATAACAGAGATGTAGGAGTCTTGATCTTTTCCTCTACCTGTGGGATTATTTGTGGGTGTGTGACATATGCCTTAAAAGACTCAGTCAAGGGACATTGCTTATGTCTTTATCTTACTACATATGCTAGGGTGCTAACTTTTGTGAGGGAGACCTAAAGCCTTGTATATGTATACACATTAGAGACTTGGAGAAAGTAAGTACGCGATGTTTAATTTTTAAGAGCACCATCGATAAGATCCTTGGCATCTGCTAGAGTGGCTGTTTTGTAAAGTACCATAACTGCCATTTATATCTCCAGAAAGATTTGAAAATCTACTACAGTGACTACTGTGGTTCTCACAAGACAGAGATTTTCAGATTAAAAAAATACAGTACCTTATGCTATGATAAATGGGAATGGAGGAAGGGAAAGAACATTCTTTGGGTCAAGCATTGTAACAGAAAATTTAACATGTGCCATTTTATTGATTCCACCTGTAAAACTCACCCTTTACATTGTCCCCCAATTGCACCCCACCCCCCTCCACACACACCCCATTTCCCAGACTAAAAGCTTCTGGAAAATAAAGACTGGGACTCATTCAGTGTTGTATCTGAATCTAATGAGAAGTAATAGGAGGATTTCAATTAATATTTATTGAACAAATGAATGAAACTCAATATTCTTGAGGCAAGATGCTTCTGTGCACTTACATATCAGTAAACAGAACTGAAGAAGTTAACATTTTTGGACTTGGAGTTCAGAATTAAATATGTTTGATTTTCCATCTGTATATCTCACTTCGTTAGATTTATGTCTTCTGTCTCCCTGGCCCTATCATGTCTGCCATTGTCCATTCGTTAACTGAGTGGGTTCATCTGCAGTTTCGAAGTCAGAATTCACAAACCCTGCAGTCGAACCCATGACATGTGATCTTGTTAGATTGCTTCTGTATAGGAAGATGTCTTTTGGGGAATCTGCCCAACTCATATATCCCCTTCTCTGTTAGTTGCAATCCAGGTGGTCCCCAGATGGCCCTTTTCTTCAGGGAGGAGCCCTGGCCAGCAAGGTTTGCACCAGTCACTGTGCTCCTGGCACTCATACATGTCCTTTTCTGCCTCCCTCTCATGCCCCAAGTGTGGTTTACCACTTCTTCATCTGTTAAGCATTTCTAACCCTGCCTCTCTTTCACAAACTGTTTTGATTCTTTTTCTCATTTAACATATTGTGTAGTATTAATGCTGTTGCGGATTTGTGCCTCTTTCCTTACTGGACTTTTTAGTTCTTTAGGGAAAGAGCTATGGCTCTGCTCCTTGATCCTTGTCTTCAGCCACAATGGCCTGGCATGTCCTCCTCGGCTCCAAGCACTTCCCTGCCTTGGGACCTCCTTAGAATGCAGAGGGTGTCCTCTGCAAAGAATGCTCACCCTCTATCTCCTCACCAGGAAAACTCTTCTTTTATTGGGCATCATTTCTATCATTGCAGACAACTCTTTTCCTTAAAAACACACACTCCACTTTGTATTATATGTGTGGATTTTATTGTTTCATATCTGGTTCTTCTAGCAAACAATGAGCTTTGAAAGGCTAAGGATTATATTTATCTTGTTCAATACTGTATGTCCAGCACCTAGCACAGAGTTGGCATAGAGTAAAGGCTCAATAAATGTTCGCTGAATAAATTCATCCTTGAATCTCAAATGTATAAAATGCATTCTTTGGGTCAAGCATTGTGACAGAAAATTTAATATGTGCCATTTTATTGGCACAAATGAGGCCCATTAATGTCTGAGAAATAAATTATTCAAGGATAATAAAAGAAAAAAACTATTCCTCTAGTCAACTAAATTCTGCCACATTATTACTTTTACACATTTAACCAAAAACTATTAACATATTTATTTAGCATGTATTATTTTGTGCAAAGTACAATGGCAGACACGATACGGCCAGGGAGACAAAAGACATAAATCTAACAAAGTGAGATATATAGCTGGAAAATCAAACATTTAATTCTGAGCGCCAACTCCAAAAATGTTAAGATTCTTTCTGAAATATTGTGTTGAAAAGTTCTCTGAGGCTGTAGATATGATCTGGGGGAAAGATTATCATGTATAATTATTAGTTTCTGTCCTGAGCATGGAAGGGAGATAAATGGCTGCACAAACGTTATATTTTCTGTGTCTATTATAGAAGGGCTGACATAAATGAACTTTTAAAAATAAAAATGTGTTTGGAGTGTTCCCTACTACTTTCTAGTTGTGTGTCTTCGGGAAAAAAATCACCTAATCTACATGTCACTTCCTTCATCTACAAAATAGTGATAACATTAACATCTCCATGGGGCTGCGATAAGCACCAAAAATAAAAAAATATGGAAATGTTTTACTAAATGTAAAACAGTCTACAAATGTCATTAAGCTAAACAGATGCACAGAAAAAATAACACCAATGAGTAAATAAACACCAAACAAATTTCTAGGCAGCAAACATTTTAGGAGTTCAAAAGATGGAGAGGCAGTTTCCTAGGCCGATTTATTGCTTCAGAGAGTAGAAGCAACATATGTAATAAAATGTAGAGATGGAGACATATACTTAATGCTGTATTTTAAATTTGGACTTCCTTGACACTATTTCTAGAAATGTTAGGCCCTGCAGCTATTTCATTAATTTTTTTTTCTAATAAGTTTGAGATGACTGTGACTGTGGACGTAATACTGAAAATATAAACTCCACAAAGTATGACCTGATTCTATCCATTTAATCTTTCCCAAAGCTATTACAAATGATTTATTGATAGGTTCTAAATGTAAGTAAAAAATGGAAGATATGTTTCAATCCCATAAGAATGAGATAATATGTATGACAAACCATATAAATATCAATAATAGCAATATATTTTTATTACATCACATATGCATTTTAAATAGGTAACTTGTACACATTAAGGGACATAATAAATGTTTTTAGAATATGATAGAAGAGGCAGTGGAAAACATACTTTTCTATTTAAGGCAATGACTATATTTTGGGAGTACTGGGCTTAGAAAACAGACATTTTATACTTCATTTTTCTTATGCATTTACATAATTGCCAAATTTCATATCTATCCTAATATTACATTATTCCCTGCATAGACCTATGCTACTGGTCAAGAATTCTGTTTGAATAGTTTCAAACAGAAAGGAACTATAATGCTAATATAAAAGTATCAAATTCATTATGTTTTAACTTCAGTTCTGAAAATGTGTATAATCTATAGTTAGTGAAAGAAACAAAATCTTGGATTAAGGAATACATTTTTCTAGACAAGCTCTTAGATAATGCTACTCAAAGTGCCTGTCTGCTGTATGAAGAATACCTTGGGCCAAGTTGAAAATCAAAACATACTGCTTCCTTCATTGACAATTTCTTGCTCCATAAAAACAATTTCAGCAAACTGAGTAATGTACCTGGGGTCATAATTAATCTACATTTGGTATAAGTGCTTTATCTTTTTGTGGATCAAAAGCAAAGGGTTCATGCAATGGTAGCTAGTCCATGGATCCCATCTGAGCTGCAGTGGTCTACGGAAAACTAGGAATGGATTGATTATCTTCAGAATGACCTACTGAATAACTAGTCTTATTAGTCAGAGAATTATTCTAGAGCTGCCTTACACAGCATTGTTTTGAGAGAGAAAAGAGGCCAATTTTAAGTGTATGATATGATAGATTGCATTATTGTTCGAGTTCTTCATCTTTCTATAGTTTCCACATTCTTTGTCATGTGACTTTGTAGTACTCCCTCTAATGTCAACCACTTTATTTTCCTGCCCCATTGATACTGAGGCTGGGAATGTGAATTGACTGAGACAACAGAATGCAGGCAGAAAGAAGTGTTGGGTACTAATTGTGATTCTAAGCCTTAGGAGTCATCCACTGTTTCTACTAGACCCGCTTATGCTTCTGCTGCTGCCATGAGAAGCACATGTATTGGGTAGCTTGTTATGCCAAAGATAAAAAACAAATAGAGCAGATCGATATCCAACCTGACTCTGGGAGCCAGCACCATCCAATCCTAGTGTAGGCCTGTCAAACTCGACTTGATCTCAAACACAAGAGAGAATAAATGATTTCTGTTTTAAGCCACTGAGTTTTGGGATGGTGGTTATACAGCTTATTATGCTGATAGCTAACCAATTCACATTAGAACAGCACCTTCCAAAGCTTGGGTGGAAGAGGGCTGCTGAGATGGATAGCATTGGTGGGGGAATACTAACACCTTGGGTACAGGCATAGAGGAAGGAGTATTAATGGCCAAGTTTATGAGTAGCACATTCAGGCAGGTGGTAAAAACCCATTAATTTCACAAGTACTAAGAATCCCATCAGGACTCTGATACAAGGAAACAACCATTCTTCCTTATTTTCTACCCCAGTTAATGTAGCAAAGGACAAAAAGAGAACATAAGCACAAAGACCAGTACTTCGTTAATGAAAGAAGAATGTTTCAAACTGGAATAGAGTAGAAATTTTAATTATTCACGAAAGAGTAGGGATTTTAACCTAATAATAGAATGCCAGCAGGCTAAAATATATTGGGATCTACTCTTCAGTTTGCTTTCTTAAAATAGTTATGATAAAGTAAAAGTAGAGTTTGTATTTCACACTGTGGACTCAATTGATCTACAATCCTTCGTGTTCTTCCTTCAAGTTCTAACATAATGCATTCCACTGGGATACTGTTCAAGATTAATAGTTGGACTCAACAGCCTTAAAGAGACAACTGCATTAATTTACGTAGACTCTGTGCATTGACTGGACAAATAGGACTTCTTATAGGATAATGCTTTTGTAATTATTGTTTGGAAGTATGACATTACAGTAACATATAAAACCTGCAGCACAAATAAAGAATAGATTTTACCCCCCTCCAATTTCCTAAGGTCAATTTCCAAAATACCTGACTGCAACCTATAGGGGAAAGGAAAAAAACTGACCTTACAATTTACAAAAATAAAAGTGATACAGTATTTTGTCTCAGTTTGTTTTTACTATGCTAAGCCAAAATTTAGTATATATATTTGAACCTTAACAAATATTTAGAAAATATTATATATGTATATCTCAATATATATACACACACTATAAACATATAATGTGTGTGTACATATATATGTGTATATTCATACAAAATTTAGTGTGTGTGTGTACATAGATATATATGTATATACACACACATAGACACACACACTCTAAGTTTATAGGCTATTTTTGCTGGTAAAGTTTCCTGAACACTATGTAGGTAGTAACTATAAAAAATATAAAATTTGTTTTTTTTCCTGAAAGGTTTATTGTTTGCACTTCTAGATAGTGAAAAATGAAAACTATGGAAACAATGACTGCCCAAGGAACAAAACATATACACAAACCTTTGATTTAGTAACCATAGCCAAACTCTGTGGTAGCTCACTTAATAAAGTGGTTACAGTCATTTTGGGGGGCTCCCCAGGGTGAAATGTTCCACTTTTTATAGCTTTGTATATAATTAAAAATCTGCTATAACTATGACCTTGAGTATCTCCTCAAAAAACATATAATTAAATAACCAGAATATCTAATAAATAACAGCTGCAAGGTAAGCAACAGAAAACGCCGTCTGAACAGTATTTTACTTACATCTTTCTGAACTACAAACTTCTTTGCTCTAATGCATTTCTAATAGAATGTCAGCCATCCTGGCTTTACAGGAGCTCTTGATATCACAAGCTTTAATGGCCCTTTTGCAATTAAGGTGAGGTATCTGCCATTTCACTCAATCCACCAAAGACAGGTTTATATAATCATTCCAGAAATGTTCCTTCCTACTGGGTAAGATTTAAGAAGTGCTGATTTTGAGTAGAAGAGAAAAAAAAAGATGTTTATTATTTATATCCATGGTTCTGGCTTTAGTATATAAAAGCGCACTATCGATCCATTCTTAGTAAATTGTACAATTTTTCATACTGTCCAGTGTTACTATCATGTAAACACAATCTACTGTTAAGAAATGTCACATAACTTTTTCATGAAACACATTATGTAGCCATAGAATAAAGATTAAGTAAACATGATCTGGAGATTTGCTCAGCATTTTTCTTCCAATGATGAACTATTATAGCTACCAACTATCAGATGGAATTTTACAGGTTGGCAAGAAGTCTATCACAGCTTATGCATTTACTGAAGAACTTCTTCTAGGACCAATTTCCCTGTTATACCTAAAAGTCTAATTCAGAGCAAAATGACCACAACATGTACTTGTATCATTCATTAGCCATATTTTAATATGCAAACATTGCTAATATAAGAAAAAAAGGTGGACAAACTTGGAACATACTGACTTGCATTAATATGATGCCAAGCATTTCCCCAACAGCTTTTCTTTAGGCAGCCTCTTATAAACTTAAACATATGCCATACATGTAACATTAACGAAAGCTCTCAGGAAAAAATGTCACATGACTGAAGAGGTGCTTTCCTTTGGGACTCTGGTAAATGAAAAGGTCTCATAAAATGTATAACTTGGCATTGAGTATCGAAAATAAGTTTTTATCTCGGGTTATAAATTAAGATAAAATAGGTAAATCAAAAGGATTAATATCTCCAAGTATAGGCTTTAAGGATACATTTGAATATGAAGGTACCATGCAAAAAAAAAGAGATCAGCTTTATTCATCAGTAATCATGCTGCTGTAGACATTCCACATGTAAAATAAATGGTCAGAGTACATGAATTTTCTTCAAGGAACCACAGTGAGTTGACTGAACTGCATATAAATAACTGATACTTAAGCTGGTGTATCTCTAATGTTTGCTAATACAATCACATAACACATAATGTTTCCCTCAATGACAAATTGTATGTAAGACAGTAGTCCCATAAGATCATAACATTGTATTTTTACTGTACTTAGGTTTAGATACACAATACAATTGTGTTTCAGTTACCTACAGTATTCAGTACAGTAACACGTTGTACAGGTTTGAAGCCTAGAAGCCAAGGGCTATACCATACAGCGTTGTAGGTTATGTAGGTTTGGCTAAGTCCACTCTATGATGTTCACACAATGATGAAATCACCTAAAGATGCATTTCTCAAAAGTATCCCTGTCATTAAGTGGTGCATGACTGTACTGTCAAAGCAATGAGATAGATACATAGGTCTCTGTCAAAAATGTGCATACAAATGACCTATTTGCACATGTAAGTGTCAAATCTGTATAATCTCTATTGAAGAATGGATCTCAAGAAGTTGTGGGAAGAATATGAAGCATGTCCTCCCAAGCTATATTGCTCAATTTAACTGAATATCATAAGTGATTGATACTTTAGAATAACCCCCAACTCAATGCTATGTGTATTTTTCAGGAGTCAACAGGATACCAACATTGAGATCCTTCTCTTAAATGTAAAGAAACTTTTGCACAGAACTAAAAGTGTCAAAGTGGAGACTCAAACCTTGGCACATCCAAAGCCCATGCCCTTAGGGCTTATGCCAAGCTGTCAGCCTATTACATTTTATTACATATTGTAATTACCAACTGCATAAAAGTTTGAGATCTATTGACAGGCACTTTGAAATCTGAATCAGCCAATTTAGAGCAACAGTTGAGAACACTGTTATAGGACATGCAGAATTAATAAAAGCTACACACCAAAATGGAACCTTGACCCAGGCATCAAGATTTTGACCAGATGGTATGGGGTGCAAATCCACTGTGTCTAGCTTTCCGTCAAATCTACATGAATTGTTTGACACTCTAGAAAAAATTACTTGAGAAAAACAAACACAACACAATGGATACAATGGATAAAATATAAAACCCTCCCACGCCTGCCAAATACAGTTCTGGTTTGTTTCTCCCCAGAAGGTGACATTGAGACAAGGATGTAGATACAGGCAGTCTTTATTTGAGAGGTCATCCCAGGAAGTACATGTGAGAAAGTGGATAAACTGAGACCAGAATAAGACCCCAGAGTTTCCCCTAGGGGTATGAAAGCCTCAGCATTTCCTCACTGAGGTGGCCTAAGCAAATCTCCCAAGGGCAGAGAAACTAAGACCCAAGGGCACTGGAAAGCGGAAGGTGTCAGCATTTGTAGGAACACAAACATGAGCACAGGGAGATGAGGCAGGGCAGCAACAGTGTCTGCTTCAAAAGAACAAGCATCACAGAACCACAGTGCTGTTTGCTCACTCACCTGCCTGTCTAAAGAACTGATGAGCTTCCAGCCTCTAGGAAGCAAAGGTAGCATCTTTCTAAACCTGCTGTCCTTATTTTGACCTTTTCTCTTGTGCACCCACATATCTGTTAGGCACCACATGGGCTCTCTACAAAGGCCCTCAGATGGTCTTTGTGTTTCTGCACTCTGTACTGGGACAGGAAGGGTGGAAGCTAGGGTAGGAAGGGCTGTGTTCCTGCCGCTCCTGCCATTGCTGCTGTTGATCCCAACTCTGCAGCCATGGCTGTAACACTATCTTCTCCTGACCTCCACCTGATGAATACTGTATCAGGAGAGGCTAGTCTCTGCCCATGAAAGTGCCCATATGTGTGTTTTCTCTTCATTCTTCTCAGACTATGCTTTCCTTGCCTTCCTATTTTGATCCTAATCCATGCCTTCTGGAAAGAAAGCCTGACCCTTGGCCATTCACTCAAAGCAACAGGGAATTAATTGTCTACTAATAGTTTCAGAAGTGAGGTTTTTGCACCTTAAGATCTATTGGTGAGTAGAAGAAAATACTGGACATTTAATTTGTATATTTATCAACTAACCCATTTATAATTTCCATCCATTTTATATCTTATGTTATACAATATGACATATAGTTTATAAATATACAAATATTGAGTGTGACCAAAAAACATTTTTTAAACCATGATGCACACCACTAAAAAAGTTTGAAGCACCTGCTTTGAGATAATTCACCTGTTATCCCATGACACAGATCAATGACCTCTGTCAAAATCCCATTTTAAAAAATTCCAGTTTTTAAAGGAACATTTGGATGCCTGCTATCATTTGTCTAGAGCAGTCCCCTAGGTTTGAAAACCTTATGGCCTCATGGTTACAATGTCCAGTCCAAATGACTCTGGGCATTCACTGTGAAATGTTTGATCTCCTTAACTCTGTAATTTGTTTTGGGGATTTGGTTTTTTAAAAAAACCTTTGAAGGAAGTGTCCTGTGGACTGAGACTCTTTCATTGTTCCATCCAACAAATAAACTTACCCAACAGTAATTCCAAATACTAACTTATTGGAAAGACCATACTTATATTCTTGATGTCAAGTTCAACAGTTTTGTTGCACACAAGGTAAGCCATATTAACCTGACTTAATATGCTACACTTTTTCACTATTAATTAGATGAACAGATTGTCTTTTCATTGTGTTGTGTCTGCTTAACAATTCTATAAGCACCTTATGAACAAAGACCTTGTCATCTACTTTCTTTAACCTCCAAGAACACTTTGCAGACTGCTATGGTTAAAAATGACATTCAAGAACATGATACAATCATATGCAATGAAAGGATGTATTTATTCAACCTTTGAAAGTTACTCCCTGGTGTTGAAACAGATTTGGTGATCAAGATTGTTATGAACATTCTGCGGCATCCTGGAATGAATGCAAGGTTGAAGGCAGCTGTGACAGTTCTGACAGCACCTGGTTCTAGTCAATAAGGAGTTAAAAATTAATCTACATGTGTTATTTAGCATTTATAAATTCCATCCTCTTGTCTGACTTTTCCAGGTTATTAATTATTGTTTTCACTCCTACGAGGAAAAAATGACATACTTTGGTAGAGTGCTTTTCTATTTACAAGACAAATTCAAATTATCCGTTAAGTCCACACCAAAATCCTATGGAAAAGAGATTATTGTCATCATCCCCATTTTACATAAGAGGATAATGAGGCTCGGATAAATTAATGCTTTGTCCAAGGACATTCAGATAAAAAGTGACAAATCCAGGGCACTTAAGCTCTACTTTTGTTACTTCAAAGCCACAACAGGCTTTCTACGTCACTGACCTGCATCTTATCCAGTTCTTGTGTGTGTTTATGTGACTATTTTTCCAGAACTGCAGATATAGAATACTGTCCTTTTATAAAAAAATAGAATAACATACATTGATTAAATTTTGATAGTTTTTTGCAGATGCCTGTATTTTGTTGACTCTTTTTGGTCACAAGGGCAGATTGAATTGATATTTTCAAAGAACAGATCTCCTGGCCTTCTTGGTAAGAAGTTATAGCTTAGAGCCTATTAGATTAAAAAGCATAGGCCGGGCGCGGTGGCTCACGCTTGTAATCTCAGCACTTTGGGAGAACGAGGCAGGAGGATCAAGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGACAGGCGCCTGTAGTCCCAGCTACTCTGGAGACTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGTAGTGAGCCGAGACCGTACCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCAAAGAAAAAAAAAAAAAAAAAAAGCATAGCATGGATTCCTTTTTCTTAGGAAGGCAACTTGTATTTAGGATAATCCTAGTTATTTTAGTTTAAAAAATCCAATATCATAAAGGGGTGATCTTACCTAACACTAATACAGAGAAGGTACAGACCTGAGGCTAACTGCTAGATAAATTTGCTATATCCATCCCTACGAACACAAATTATGGCTCTTAGTTGAATTTGTCCTCTTTTCTGTTTTTGTTTTTGCTTTTTTTTTTTTCAGGCTGGCTTGCTGCATATTGAGGAGCTGATGATCCTGTTTGCTTTAAATTTTCTATGAAGAAATGGTCTCAGAGCCCAATTTTAATATCAGAAACGTCAACTACAGTGGGGCTTCATTTTTTTATGTCAGTTGAATGCCAGTATATTTCATTTGTGTAAACAGTAATTTACAAGTTATCCTTGGAACACTGGGTTTCTTGTCTCTTAACCACTGGCATGAAGGGGCCACCACAACCCTGCATTCTAGATAAAAAAACACTGCAGTAAGAACATGAAATAAAACCAAGTCTTTGTTCACAGTTAATAGTGTTTTAAGTTGTTTTGAAGTAAAAAAAAAATGCAGAAAAATAAAAGACAAAAACAGTTTTTTTAGAGTTGCCTGAGAGATTTCAGTTCTATTTCATTTAAAGTTTGTAAAGGAAAAAAAAATCAATGATACTATCTTCTTTCTCTTCAGCATCATAAATTGGTTCCCTGATTTTGAAAGTTAGAGTACGTAGTTACTCTGATTAGTTCCTGTCCTCTGGAGGCCTCCAACGACTTCTGTGAATAAGCAGCACTGAAATATTTTATCAATACATAAGTAAACAAGAGCATATCAGCAGTTAAGCACATTTTATGAGCTGAGTGAGATAGAATATTCATAAGTGTAATGGAACAGAGCATGAGCATGGGAGTGCCACATCTTTCAGAATAGAGAGACAACCTGCAGAGACATTAATGTTCCCAAACCATTTAAAAAATAAAATAGAATATGCTATGGACTAGATACCATTGGGATGGTGTAAGAAGGAATTCTTCTATACAGGCTGCTAAATTTAATTTTTCTGAGAAAAATAGGTGAGTTGATTTATCTTTTATTTGTTATTTTTAAAAGTGAAGCTTTTGTTGATCAGTCTTTGTTTTTCATTTTCATGGCTGGAATACAATTAAATTCTATAGACAGATGGGCTTTAGCCATGCTAATTACTATGGTAATCAATTAACTCAGCTGCTGTTTAGAATAGAGAAAGCTACATAAACAACAATCTGAAGTTTTGTCTTTTATAAGACAGTTGTGGAAACATTACCTATCATGTACATAATTCATAAAATATCTAAATGACCATGTTGTTATGGTACATTTTTTAAAATTTCTTTGGAATCTCTCAATATACTCTGTCCTATTTGGAAGCTAACAAATTTCATTCTACAAAGACTGACCCAAAATGTCACCATAAATGAAGTGATGTGCCATATAAATACCTGTTGAGGTGTCTTGGCCAGTGGCTAGATCTTTCCTGTTTGGGTGGACTGCATGCTATTACTCTGTACACTAAGGTTAAGAGTCTCATGTCACAGAGGTGAGTGTATGTGGATAACATGAAAAGTGGTCATTTTGAGAATTTTTATTGTATGATAGATAAGTGTTTAGTACCATCAACAAATTCATAAACTATGATATCCACTAATTACAGGCCGAACATCCCTAAACCATAAATCTGACGTCCAAAAAGCTCAAAAATCTTAAACGTTTTGAGCTCCAACATGATGACACAAGTGGAAAATTCCACACCTGACCTCACGAGACGGGTCTTAGTCAAAATGTAAGTTAAAACTTTGTTTTATGCACAAAATTATCGTATAAAATTACCTTCAGTCTATGTGAATAAGGTGCATTTGTAACATACATACATTTCGTGTTTATACTTAGGTCCCATTTTAAAGACATCTCATTATGTATAAGCGAATATTCCAAAACTTCAAAAAACTCTGAAATTTCAAACATTTCTGGTCTCATGCATTTCAGATAAGGGAAACTCAACCTGTATATACATTCACATTAAACCACCCATAAATAATTTTGGAGATCCCTGACGCAGACAACATCCACCTAGTTTCCAATAAAATATCTTAATAGGCTGGAGAATAATAAAGGCCAGGCTGAAGGGCAATGAAATGCCAAAGTCTTGAAGAAATCTTCACGAACTCTAAAGCAGATGAAGGTGAATTGAGAAGAAGGCCACTCAGATTTCAACTCAGGGCACTGCACAGGCTTGTCCTCATGAAATAAAGACTACCTCTTCACTACCAAAAAGAAACACAGCATTCGTTATTTTTTGTCAGTGTGAAGAAATGTTAGGATGGGACAACCACTTTTTGAGAAGCTCAGACTACTATTCCTTTCCTATACCAATCCTACCATCTTAATGCATCCATTTGGTTATAGATCCACCAGGAAAAAATATGAACAGAAAAATGTACATTCATGTGAAGAGAAAGAGGTCAAGCAAGTGGTATGATACATCAAGGAAAGGATAGCTCTTTGGAACCCAGACAGGTACACTATAATCATGGTTAAATTTACCAAATCATTCTTCCAGGCCCACTTCAGTGACACTTCCTCTAGTGAGTATTCTGGACAGTCCCATTCACTCCCTGCACCCCACCTTATCCCAAACAAATAACCTCTACCTCCTCCTCTAAGCAACCACAACATTTTATTTACACATTTCTCATAACTCATTAATTTATATTACATCTTATATGAAAATTAACTCATGATGGATTAAAGCCTTAAATGTAATACGCAAAACGATCAAAACCCTAGAAGAAAATCTAGGCAATACTATTTGGGACATGGGCATGGACAAATATTTTATGATGAAATCTCCAAAAGCAATTGCAACAAAAGCAAAAATTGGCAAATGGGATCTAATTAAGCTAAAGAGCTTCTGCACAGAAAAATAAACTATCAACAGAGTGAATAGACAACCTATAGAATGGGAGAGAAATTGTGCAGTCTAAACATCTGACAAAGGTCTAATATCCAGGATCTAAAAGGAACTTAAACACCTTTACAAGAAAAAACAAACAACCCCATTAAAAAGTGGGCAAAGGACATGAACAGACACTTCTCAAAAGAAGATATGCATGCGACCAAAAAACATATTTAAAAAAGCTCAAGCATCACTGATCATTAAAGAAATGCAACACAAAACCATAATGAGATACAATCTAATACCAGTCAGAATGGTGATTTTTGAAAAGTCAAGGAAACAACAGATGCTGGTGAGGTTGTTGAGAAATAGGAATGCTTTTACACTGTTGGTGGGACTTTAAATTAGTTCAACCATTGTGGAAGGCAATGTGGCGATTCCTCAAGGATCCAGAACCAGAAATACCATTTGACCCAGAAATCTCATTACTAAGTATATGCCCCAAGAAATGTAAATCATTCTATTATAAAGATATATGCACATGTATGTTCATTGCAGCACTATTCACAATAACAAAGACATGGAGTCAACCCAAATGCCCAACAATGATAGACTGGATAAAGGAAATGTGGTACATATACATCATGAAATACTATGCAGCCATAAAAAAGAATGAGATCATGTCCTTTGCAGGGACATGGATGAATATGGAAGCCATTATCCTCAGCAAACTCATACAGGAACAGAAAGCCAAACGTCTCATGTTCTCATTTATAAGTGGGAGCTGAACAATGAGAACACATGGACACAGGGAGGGAAACAACACTCACTGGGGTCTGTCGGGAGAGGGCAAGGGCAGGGGAGAGCATGAGGAAAAATAGTTAATGCATGCTGGGCTTAATACCTAGGTGATGTGTTGATAGGTGATGCAAACCACCATGGCACATGTTTACCCATGAAACAAACCTGCACATCCTGCACATGTACCCTAGAACTTAAAATAAATTAAAAAGAAATAAACACAGATATATACAACAACAACAACAAAAATAATGAATAAATAAATAAATAAATAACTATCCAAAGAAATACATGTTATTTGCTCATGACTGTTCTGGCACAATTTATTGTATTACTGTAAAGCAAATAAAAGAATTATGAAAACATTAGTTATTTAACCTAAGGGTACAGCTTTTAAAATTCTGCATCTTTTCTAAATTGCACTGAAAATCTCAAGTTATGATTTAACTCTCTTAATAAGTCTTGATTACACGTTAAAGGTAATACAAGCACATACTTAAAGGAAGAAATCCCAATGTAGCAAGCAAATGTATTTATTTAACATAGTTTAATTACTGTATATGTTACATAGTGACATTTATGTAGGTATTCTATTTTTTTTCACTAAAAAGACAATTATTTTGCTTAGTACAGCAAGAGATAGTAGTTTAAACATCAACTGACTATCATAACTGAAACCATCAGTTATGTGGATTTTTTTCTTTTTTTTTTTTGCTACATTTTTAGAAAGAGGCAAATTACAAAAGGTATTGTGGATTTATTAAAAAAATAACTTTGGGGTTATTTACTTGGTTAGTATGAAATCAGTACCATCTCTTCTGTTTTCTGGGCATTTAGGCCATACAATTAGAATTGATTTCTGAGTGATAGCCTGGAGACTCTGCAGGAATCTCACTTATCAAAAAAAATTTAATTATATTCTTATATTGTACTTACTAAGGGAGAAAAGTAAGGGAGTATACTTCACAAAGAATTCCTCAAGAAAAGTTTTGATAACCTCAGTTACTTAGATTTACATACCTCAATAATTCAGATAACCCATTTCTCAACAGACTACATGATAGGGATTTACGGTATAACAACAGTTTATGTTTAGGGGTGTGTGTGTGTGTGTGTGTGTGTGTAATATATTTTATATATATATATATTTCCAATTACCTCCAAGTTCATTATACAGTCAGAAGAGGTTTTCATTTAAAATTCTGAGTTGGGACAATTATACATATGGTATTTGAATCACAAATCATGCTGGGTAAAATGAAAGAATCAAATGATGTATACACAGAAGTACTAAACACAGGAGGCTGTGTTTACCTTTACAGATTCCAGGCTGTTTTGCAACAGATATAAGGGGTGGATGGGTGGCTGGACTATGGAATCCAAGGGATCCCTGCCAACCCTGACATCCTGTGACCAATGAAATGATGACAGCTCATTGGCCAGACCTTGAGGCTTTTTGCTTTCCAGTGTCTGTTCTCAGTAAAAGGTAAAATGCTGAAAAACAAATAAATGTAAAGTGCCACCCAAAGTAAAAAAATTACAGTGAGATAATAAAACACATCACATAGAATTTAAATATGTTCAGTATGAAGGCAATGGTATAGAAAAAAAGATGTTAGTTTCTTTTCATGTGAACTCACAATTTTTGCTTTATGAAAAACAAAAGGAAGCTTATTCTACAAAAATAATTTCATTTGCTATTAAAAAAAACAAAAGCCCCAGTATAATCCTCCTCGCTATGGTTTTAAGAACAAATTGTACAAAGCTATTTGGGGAAAAAAGATAAAGGAAAACTGAATTAAAGTCTTACTGGTTTCTCAATCTGTTCTTTAGCAGAGTAGTTTGCATGTGACATCTCACATGATAATTGTTTCCAAACTCAGGGGAAAGCACTAGTAATCTCTGATAAACTTGTCAGGGTGCAAAGAACCATAACATAATATTATTGAGTCAAAGGGTCATTCATTCATCTGTAAAAATGGTGAAAATTACAATGCTAGATTTTTTTTCTTAAAATTAAAAAATAATCCTTATATGATGAAACACTGTCTTTCCAGTTGAAAGCTCTAAGTCAGGTCATCTTCCTTCTCACCTTTGTGTCTCCACTCTGGCGCACCCTGCATGGCTGACTCCTTGTCATCTTTCTAAACCCAGTTCTTTCAGGATGTCTTCTCTCCCCAACATCCCTCACCATCTTCTTCATCTCTTCTTCAGATATTATTAATTTCTCCTGAATACCACTACTGTGGTATTTTTTACCCTTCAATTTGTGTGTGTGCATGTGCTCTAATTTAGACTGTGAGCTCCTTTAAGAATACAGCCTATATTTAACATTATTCACGTCTGTTTCCCTAGAACTTAGCACATGCTTCACATACACTGGGCGTTCAGTCAACATTTCTAATATAAGCAAATATGAGTATAGAAACATTATGATAATTAGAGCAGTGAGCGAGACATAGTCTTCCATCTGAGACAAATACATGAGAAACAGGAGCCAAAAAATAATTATTTAGGCTGATGTGACTTCCTTCTCTCCATAATGGAATAATGGTGTAACAGTGCAGGCCTTCTAACAACCCTTCAAAGAAGGGGGTGAAACTAGGCAGAGGATATCGACTATCTTGGTTCATAAGTAGGTACACCTGGGAGTACCAAGCCAGGGAAACATGAGCTCTGCACAGTGCAAAACACTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCACTGGCGCAATCTCGGCTTACTGCAAGCTCCACCTCCAAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACAACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCTTGATCCGCCCACCCTGGCCTCCCAAACTGCTGGGATTACAGGCATGAGCCACCGCGCCAGGCAGCAAAACACTTTATTAAACATAGAGAAAAATAACTGGCATGCAAGGATTTCTACCCAATCATCATTTGCCTTGAAGGACTTTTCACCATGACAGCCTTGTATGTGTGTGTGTGTAAGTGGGGGTGGGGGAGAGTAGGGAGAAGGTGGCTGTGCCCAAATGTCAGAGAGAGGCATATTGGCCTCTAGGGTGGCATCCTTAATGAATTTTCCTACAGAACTGATGTCAAATGGGTCACCTCAAAGGTTCATCTCACTCATTCATTCATTCCCCTTCAAGGCAATGGCCCATCTACCCTATATCCCATTTTAGAGACCCTCTGTGTTATCCACACATTCCACTTTTTTACACTCCCCACCTCCAAGGGGTATGCACACTCTGTCCATTTTACTCAAGAAACATGTTTATTCTCTACTGCTTTGGCTTTGGGCCTCCTGACTTTCCACACTCTAGCAACAGCTCCCTCTTTGAACCACTGGAAAAGCCTCCTGACTGGCCCTCCTGCCACATTATGTCCTCCATGTGTTGCAAGAAGCCTCTTCCTTAAGTCAATTTAAAAAAAAAAATCACAAACACCTGCTTCAAATCTTTTCCCTTTCCTTTCCTTCCTTACTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGGAGGAGGAATTCTTGCTAATTGATAATATTTAATATTTAAACTCCGTAGATTCACATATGACTTCATCAATTGGCTCAACTAATTTTTTTCCAGCTTCATATCCTGGTATTCAAAGTCATGTACAATTTTTTTATTGCACAAAATGTCTCATCTTTCTCTAGAAATAACAGCCCTTGCCATAAATTCCTGCTTTTGTAACATGAAACTGCTTTCCTTTGGAGTGAGACCACTTTGCACCTGGAAGATGCTCATCCTTCAACATCCAGCTTGTCTCCTCCTTAGGAAAATATCCTCTGTTCTGTTGGTGATACTAAAGGCAGTACCCTGAACATGTCTTTGTAAAAGATTTTGCCTTTAGTATTGTGATTACCCATTCACCTGTCTATCCCTTTCCAGAAATGTGAGCTCCTCAAGGGCAGGCTCCAAATCTGACTTTCCTACTATGCACATAGAATGGTACTTGCCATGTAAGAAACAAATCCTTACTGTTTGGGGAAAAAACAAAAGTACAAAGAATACAACTCTAAAATGAACAAAACAAATGATAATATGCTGTTTAGAAAGTGTTGAAAAACTAGGCATGGTGGCTCACACCTGTAATTCCAGCACTTTGGGAGGCCGAAGTGTGGGGGATTGCTTGAGCCCAGGAGTTGGAGGCCAGCCCGGACAACACAGTGAGACCCCAAATCTATTAAAAAAAAATACAACAATTAGCCGGGCATGGTAGACTGTGCCTGTAGTTCCAGCTTTTCAGGAGGCTGAGAGAGGAGGACTGCTTGAGCCTACGAGGTCGAGGCTACAGTGAGCTGTGATTATGCCACTGTACTCCAGCCTGGGTGACAGGATAAGATCCTGTCTCAAAAAAAAATGTGTTGAAATCATTTCTTTCATATCATGTGTTAAATAGGCTTTGAAGGGCTGGCCTTGAAACCTGACAGCTTTGAGCCATCGTGTATCCATGGGAGTAGGCATTCTAGGTTCCAAACAGCACACTTAGAAATGGACTTTGGAACACAACGTGCTACCTCAAGGCTCCACCTGGCCACACAGCAGGCACTGAGGCTGGGAGACAGCCCCCAGACAGATGAGTGTCCGCGCCTCTCTGAGAGGTGAATGAGCCCGGACGGTCCCTACCTACCAAGTCCTGAGGAGCAGCGGCACCAACGACGCAGGCCCGCCCCAGCCCGCCAGTGAGCCGCCCATGCCCTCTGCTAGCCCGGCCCGCCCGGGCCCCCGCCATGCTGATCACCGTGTACTGCGTGCGGAGGGACCTCTCCGAGGTCACCTTCTCTCTCCAGGTCAGCCCCGACTTTGAGCTCCGAAACTTCAAGGTCCTCTGCGAAGCGGAGTCCAGAGTCCCCGTCGAAGAGATCCAGATCATCCACATGGAGCGACTCCTCATCGAGGACCACTGTTCCCTGGGCTCCTACGGCCTCAAAGATGGCGATATCGTGGTTTTACTGCAGAAGGACAATGTGGGACCTCGGGCTCCAGGGCGTGCCCCGAACCAGCCTCGTGTAGACTTCAGTGGCATTGCGGTGCCTGGGACGTCCAGCTCCCGTCCACAGCACCCTGGACAGCAGCAGCAGCGCACACCCGCTGCCCAGCGGTCACAGGGCTTGGCGTCAGGAGAGAAGGTGGCCGGCCTGCAAGGTCTGGGCAGCCCCGCCCTGATCCGCAGCATGCTGCTCTCCAACCCCCACGATCTGTCCCTGCTCAAGGAACGCAACCCTCCCTTGGCGGAAGCCCTGCTCAGCGGAAGCCTTGAGACCTTTTCTCAGGTGCTGATGGAGCAGCAAAGGGAAAAGGCCTTGAGAGAGCAAGAGAGGCTTCGTCTCTACACAGCCGACCCACTGGATCGGGAAGCTCAGGCCAAAATAGAAGAGGAAATCCGGCAGCAAAACATTGAAGAAAACATGAATATAGCGATAGAAGAGGCCCCCGAGAGTTTTGGACAAGTGACGATGCTCTACATTAACTGCAAAGTGAATGGGCATCCTTTGAAGGCTTTTGTTGACTCGGGCGCCCAGATGACCATTATGAGCCAGGCTTGTGCCGAGCGATGTAACATCATGAGGCTGGTGGACCGACGGTGGGCTGGGGTTGCTAAAGGAGTGGGCACACAGAGAATTATTGGCCGTGTTCATCTAGCTCAGATTCAAATTGAAGGTGATTTCTTACAGTGCTCTTTCTCCATACTTGAGGATCAACCCATGGATATGCTTCTAGGCCTAGATATGCTCCGGAGACATCAATGTTCCATCGATTTGAAGAAAAATGTGCTGGTCATCGGCACCACTGGCACGCAGACTTATTTTCTTCCTGAGGGAGAGTTGCCCTTATGCTCTAGGATGGTAAGTGGGCAAGATGAGTCTTCGGACAAGGAAATTACACATTCAGTCATGGATTCAGGACGAAAAGAGCATTAAAGCACGTTATAAATATGTTACCACCTTGAGGGAGCCTCAGGTCCCCGGCAATTATAAGTTAAGAGCTTACTGGCAATGTAATCATTAAAAAACATCAGTAACAACTAAACCTGGCCTTGGGACTACGTTCTCAGATGGGTAACTAACGTCAATCCTGATTCCTTGGTCTTGGTCCCTCTTCCATTTCCCTTGTCCAGAGATCACTGAAAGGCATCCTGGGAAGGCTCTGGAGGCTCCAGCTGATTTCCAGATAATCCATGAAAAAGAAAACCAGCTTCTTCCTTTAGAGACACTATCCTATCAGATTACAGGTGGCTTATCCAAATCATTGCTATTTTGCAGAATTCCCTGGAAAAATGCTATGGCTGCAGACCTTACAAGGCATCCACATAAAACTATTTCACATCAGCACTAATAATTCTTTCTACTGAGAGAAATATGCCCATTTTCACAGGTTTTGTTTTCTTTGGGAAGGGTATTAGAAATGGTAGGTCAGTTACACTATGATGTTAACTAATACTTATACATGTCTGTTTGGGGCAGCATAAAGACCAATTTCCTCATATTTACACCTTCCCTTCCCCTGGATCCCCTGCAGTCACCCTGCAATCCACAGCTAAAGACTATTTTTGCCATATTTGAGAAAGTGGATTTATCTCCAAGGATGCTACATTAATTTTCTATTTCTCCTGCATTCAAAGAAACTCTGGCTATAAAACAAAGGCAATAAATTAGATTTTTTAAAAAAGAAATTATGGTACTTCTTGGGAGTCAAGTTGTACAGTGGTGGGAATGAGAGGTGGGGACAGGCAGTGGTCCAGGTTCTCTAATAGTCATTGCAACTAGATCATCTCTCTCTCTTTTTCAAAGTAAAAATCTGCTTTATACATTAAGCTGCTGCTACATCAGTATTGTTTGAACAAAGGTTTTCACTGTTAAAATAACATTTGAAAACTTTTGAATGAGAAGATCTCTAAGGCCTCATTCAGAATTATCCATTCTGACAATGTTAGTGTTTATTACAACTGACAGTGGGTAATGGAAGATCCTAGACTTAATTACAACCCATGGCTAAAGCACCTGAGAGAAAAGTTTCAGCTTCCTGAGGCCATCAGATGCAGGGGAAATGTTTCAGGACAATAATTTATCAAAACTAGTATTAAAACAGCGGATTCAAAATCAAGATGTGTATGTTTTGATTACACTTAATTACTTAGACAAATTAGTTCACCTACTTTACAACTGAGATTCCTCACCTAATAATTTTTTTTTTCCTGGGAGGGGTCACTTTTCAAGCACTAAAACCTCATTATCTTAAAGGATCTGGGATATCCTTTAAGTTATTCTATTTTCCCGACAAGATATAAAGCCACATAAAGCATTCCCAAAGGATACAGAAAAAAATAACTCTCCCTTATAATCTCCATATACTTTTTGTTTTGCTTCTTGGTAATACTAATCAACCTTTCTAAAGAGAGTCACCTCTTCCTTTCTAGCCACCATCAGTTCACCTCCCATTTTTCTTCTCTATAGGTGTTCCCATGCTCACATTTCCCAGTCTGGTCTACATTTGCACAAAGTTTTATACCCAGTAGAACTACTAAAAATGATCAAATGAACAGATTTCTTTCCTACTTTTGTTTGTAATTAAGAACTCAAAACAAATGCAATTAACAAAAAAAGACATTCAGAGTAAAGTCAGGGATAAGCAAAATGCTTATGAATAAATTTAAATTGCCCTGATAAATTCATGGATTATCTCACTGACAAAAATATGCAAAGTCCTCAGCATCTTCTGAATTCAATTTTAAGGTTCATTTATGAAAAAAAGGTCTTATTTGCATATATCACATGGGACTCCTCAGGGTGTCTGACCCTTTAAAGTTAGCCACAGAATTTTTAAGATAAAAGACAGTTCACATGATACCAAATCTGACCATACCCACCCTACCTTCTCAGAGGAACACCCCTTCTGAGGTAGCTATAATGTTTTGAGACAAATCTCAGGTATAATTATTTGTTTCTTATTTTGAGCTGAAATCTACTGTCCCATAACTTCCAGTAAGTTGGTCTTCATTCTTCCTTCTGCCAAGACCACATTTAATCTTTCTGGCATGAGATAAACTTTTTAATATATGAAATGAGTATCAGCCCACATATTCATTTTTAGACTTCAGTAGGTTTTCACCAGATTCTTTAACTGTTCCTCATAGGACAAATTTGGATTCTCCTAAAAATTTCACGTTTCTTTGGCCATATTCCAAATCCTAAAAACATGATTTGAGTGAATGAATGAATAAATTAAAATCATCTATACTGAATTGAAAAGCAATGACTTCAAAGAAAAATCATTAAACAAAATGAATTAATTAAGCAATGCCTTTATTGATTAACTTTTAAAAATCGTCTTTCAAATTGAAAAGTGTTTGAAAAGTTAGTTTCATTAATGTCTTCATGTAATTCTGTGTATACTTAAAAAGGTCCTAATCAATTAAATTTTAAATGGATTAGTTTTGGTAAAAGGCTACATCTTTTGCTTGTCTTCTACATCAATCAGGCACTATGCAAGGTACTTTGCATATTACTGCCCTTAATCCTCAGGATAAACTTAAAAATAATTATTTTTAAGCCCATTTTGCAGATGGAAAATTTGAGGCTCAGAATTATTAGAAACATTCAAATATTCAAAGTTCAGTGATTTTAAATTTTTTTTGACAACAAACTACATTTTACATTGTGACCCAATTTTACACACTATACACACACAAACACAGATATGTATTTCTATCTCTCTATACATCATTATATAACTGAAACAAAAAGGATTCTTGAAATGAAATAATAGGATATGTTTTATCATTTCTTAGTCTTACTTTTTAAAATTATATTTTATGTATCCCACCAAGATATTCTGAAACACAATTTACAAAACATGGACTGACCAGATTGCTCTATTCAGAGCTTTTTGATTTCAAATGCCAAGTTCCTTTGCAACTTCTTTATCTGACATATTTTAATGCTAGGTCAAAAACTGCAAAATTCTTACAAAATTTTATTATGTGGAAACTACCAAAATTATGCCAGTAGAAATGACAACAGAGTAGGCAGGACTCAGAATATATACAACAATTATTTATTGAATGCACATTAAATAAGCTCCCAGACAGATTTTTATACATAGAGAAATGAGTAGGTTATAGTTTCAGACCTCAAGGTGATTAGTACCTTGTGGGGGTAGAAGACAGACTTGTAACCAACTAAGAGCAAAAGGAATGGACATGAAATTAATAATATGTTGGTACAAAAGAATACATTTTGTAATGGGGATTATTTTTAAAATAAGAAGCAAGCCAGTAAATGTACTTTTAATGTGTCTAAAATGTTCATCACTGATGCTGCAACAAAAATCCTCCTCTTAAATTTCAGGTTACTAATATACAACTTATAAATATCTACTTTTGGAAATTTACTACGTGAAAATGGATAAACAAATTATCATTTTCTGTTTTTTTTTCCTACTAAAAATGAGGATAAAGTAGGCCACATGATGAAATAGACCTTTCCTGTCTCAGGCCATTTAAAAAATCCTTGGCTTCACTTAATGCTCACTTAAATAACCATCTTACCTACAAGAAAATCACTAGTGTGATAGCCATGTATTTCAAGATTACCAGCAACAGATTCTGCTGCAGTTAAACCAGAAGATGGATGTTGTTTGAGATAAGCAGAACATATAATCTTAACCTCTTTCTTAAAATATTGGGTCATAAAAATTTTCTTGTTTCTAGGGGGAAATCTGTTCTGCAAAAAGAAAAAGATAAATCGATGTTTGCAGGTATAAATTCATCTTCACTGCAGGTATTAACTGTTGTAATTTTAGTTAAGAGAACATTGTGCTTCTTTCAGAATGCCAGTTATAAAAGGGCCATTTTCTGACATCCAAGATTCCATAAGCACTTAAGTGATGAGAGTGATCTGGGATTCTCACTAGGAAATTGTATGCAATTATATTAATCAGTGCCAACATTCCTAGTTATTCTTTGAACTTGCAAAAGCCTGGAAAACAAAGAAGAGGAGCAAACATAAAGATGGGTAGAGAAAGAAGGAAAACAAACAAAACAATGCAAGTCTGGGTTGATTTTAACTGATTCTGTCTTAGGTACCGATTTATATGGTGGGAACTGGGCTATGATTATAGACTAGCTACCATTCCACAATTTTTATCACTGGCAAATTATCTAAAAATAAAAATATTTTCAAGGTAAAGCCACAATTAAACTTGCTTTTGAATCCCAGCTTCTTTCCACACCTGGGTCCATCTGTTAGAATCTTTGAATTTCTAAGGATCTGTTATCAGAAAAAAATGGAGCTTGCAGTCTTGCTGTGCTTTCTGTGCCTTCCTCAGAGTGCCCAGTTAACAGGCTGTTGAGATGGGTGTACCTGGAGTGGCTTTGTCTCTTACTACAGCAATGAATGTTTTCTGATTGCTTTTTCTTATTGAGAAAGACTTTTATAAATCCAGTTTTTCTATATTTCAAATAAGTAAGGATCATTTTTAGAGCATCACTATACAAATTACCAGATAATTTCCTCTTATGTTAAAGTCCCTAGGAGGCAATGTGGGCTATGCTTCACGCAGGGGTATTTTTTATGGGTATATTTTTCTACCGTTAATCAATGTATTGATGCCTTGTCCAAATAAAGCAGACAATTACCAAATAAGCATATTCCAGGTAAGCAACTACTTAAATCCATTAAATTCTTACCCTACACCATCAATCACCATTTTGAAACCTTACTTTATCAGGGCTTTACTATAAAGATCCGTTAAGATGCAGAGGAAAATTAATTTAAAATTACATTAATTCACATATTCTGCCTTTCAAACTTCTGTCATGTCTAAGGATTCAATTAGTCTATCAGTCAAAAAGTATTAGTGTTTTGCATTCATACATGTCACTAAAAATTTAATGTATTTTTTCAAAAGTTATGTCATTGGCCAATATCATGCAGAGAGATGAAGAAATTTAAATTATAGCATTAACCTTTAAAGAACTTAAAAGTTCAGTTAGAGGAACTAGAAAAAAAGCAGAGTAAAATATTTAAAAATAATGTTTAACTCAGTACTGAATCACAAAATATAGAATATGGAGTAGAGGGAATGGTTCCTGCTCCCCATTTGAGACACTAAATACAACAAGGAAGGATCTATTCACCAGAATTTTATTGACCACCTGCTGCATGTCAGGACCATTTTAGGTGATGGATTTCTTCACGCAGCCACCAACTTCTGGTGCTAAACTGGTGTTGAGAGCTGCAGCTCCCAGGCATATCTGAGGATTTATCACCGCCTAGAAGATAAGTCTTCCAAAGTCCCTTTCTGATGACTCAGCTTATCAACCTAGAGTAAGCATATGGCCGATTCTTAGGCTAAACTTCAAGGTGAAGCTTGTGGTCTGTTTCTGCCTTGACCCACAGTGGCACTGTGTTCAACTCGCTACTATTAGGGGCTTAATCCTGGAGTACAGTTTGACAATTGTACTAGTTCATATTGTGTGGCTATAAAGGAATACCTGTGGCTGGGTAATTTTTAAAGTAAAGAAGTTTATTTGGCTCATGGTTCTGCTTACTGTACAAGAAGCATGACACCAGCATCTGCTTCTGGTGAGAGCCTCGGGAAGCTTTCACTTATGGTGGAAGACAAAGAGGGAGCAGACATGTCATATGGTGAGAGAGGCAGCAAGAGAGCCATGGGGGAGGTCATAGATTCTTTTTAACAAGCAGATCTTGCATAGGGGACTCAGTACTGCGGGGAGCACACTGAGCCATTCACAAGGCATCTGCCCCCATGACCCAAACACCTCCCACTAGGCCCCATCTCCAACATTGTGAATCACATTTCAACATGAGATTTGGAGAGGAAAAATATCTAAACCTTATCAGCAATTGTAAACAAATACTTCTCTTATAAAGTTAATGAAAAGGATTTGGGGCTTACACAATAGGCGAACAACCAGCGAAATAGTCACAAGGAATTGACTACCAACAATGAGTCGATTGGATGAAGCATTTGTCACATACTTTAATTCCAGGGAATAACAGAACAGGAATTCTCAAAGACAATGAGATACCAACCAGAGAGCAGTTATAGAAATGCTTGGGCATTTATAAAACCGAGAATGGAACCTAAAATTACTACCAAAAATCCAGTAAGTGCTAAGATTTTCTGAAGTAGTCATAATCTTATTAATAATTGTACCTTTAGTCTAACGATCATAAGTTTAGTGCTAGTATCTTTAGAGCTAGTAAAATAAAGGAATATGGTTGCCTTAGTGCTTTATGTGAAGGACAGCATCTGATTAATAAATATAGATAACATACATGAATAAATGGACAAAGTATCACATGTTATTAATAAGCCAACGTAGAAAAAAAGTGGCATTTTTTAACCTTGACTTAGCTATATAAAAAAAGGTAAAAGTAAATCATATATGGACAGTAAGAATATTTTAAATATTTAGAATATTTTCAATAATTAGAATAAATATGCTATGGGTTGACAATTTAATCAATATTTGCATGTATAAATGTACATGTAAGCTATCTACAAATAAACCATTAAAATGCTTTTAATCTGGCAAAGTTGCCAGTGGTTCCACTCCAAGGGCAATATACCAAGTGTCTGCAGTGCCATCTCATCCCAGTTTGCCTGGGACTGTCCTGGTTTTAAAACTGATATTCTTGGCCGGGCGTGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGAACGGATCACGAGGTCAGAAGATGGAGACCATCCTGGCTAAAATGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGGTAGTCCGGAGGCTGAGGCAGGAGAATGGCTCGAACCCGGGGGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTCGGCGACAGAGGGAGACTCTGTCTAAAAACAAACAAACAAACAAACAAACACCTGATATTCTTGTATCCCAGTATCCCTACATTCCTGGGGCAAACCAGAATGGCTGGTCACCATACTAGTGTTAGAAGCGGATTTTTAATTTTGTGCTCATGAGCATGTTGTGCACTTCTAAACAAGCTGAAAATAGGCCTGAATGATCAATGATCAGTATATGTCTAAGTGTTGAAAGTAGAATGTCCTATTCTCTTTATATAGGAGATATTACCTTATTTAAACTCATTTATAAGATATTTCTGGACTGGAAAGTTAAGTATCTTAAAAATGATAAGAAACTCACATTAAAAATACTAAAATGATTTAATTAAATAATCCTACAAATTTTTTCAAGAAGATTCATACTACAGCTGAAATTGATCAAACTGCTTTAATTTTCAAGTCTCCTTAGAAATGGTACATGTTTATGCAACAAAAAAAAGTGAGTACAAACTGACATCAGAAAATGAGAGCATGGGATACTCAAAATAAATATTTAAGTTATCTATGAACTTGGGTTATCCTGGAAAAGCATAGATGAAACAACATTTTACCATTTTTATACTAATAGGTAAGGATAGTGATAGACTGAATTTAAGTCTGAAAGCAAATCCTAGGTTTTGAGTTTTTTAAGAGAATATTTGAACAAAGGAATAGAAACTTCAGAAGAAACACAAATAATGATGTTAGTTTCACATTTATTTCAAGTTTTCATGGAGCTATTGAAGGTCAAGACGCAATGAACAGAATGTAAGGTAGGACTGCAAAAAGGGGTGAGGTAAAAGACAAGCAGGTTTTTGATAAAGAAATGTGCTTACGAACAGGACAAGATGCCTAGAAAAAGGTTTGCTGAGTGACTGGTTGAGGAGGGGAAGAAACATGGAGGGCTAGTGATTCTATGATAGGAACTGTAAAGAGTCCAGAAACTGGGGGGCAAGCAGAGGAAGATATTACCAGATTGTTATGTTGCCATGGAAGCAGAAGCCTGAGCAGGCACTAAAGAAAAAGATCCGCCACTAACATCCAGTGTACAAAATAATGTGAAGGAAAGTAAAATGGCAAAGTGAGAACTTTACAATTGCCTCTGAAAGGTAAATAAAACAAGGGTATATCTGACAGAATTAAGGGAAAGGAGCACAAAGAAGTTGATGACATCAATTGGACATCAGAAGCAGATACAAGGCATCTTTTGTTACCTGTTGAACCAACCAGTTCTTCAATTCACTCTTTAATAACTTTACTTCTGGTGCATCTCATCAAGAGTTCAGAATTAAATGATATTAAGAAAAATTATATATGTAAGAGCCAATGCTACAGGCCTCATTCTATCAGAAATGACTGCATAACGTTAAAGCAACAGATGGGTAGTTAGAATAAAACAGAAACAATGATATTCTCTGTTCACACATTGCTAACTGCCATCACTTGTACTCCAAAACAATAATTGACAGAAAACAATTTCATTGATATTCCATAGCCATATGAGTTTATGTCTCCATATGGCAAGGCCTCCACTGTCAAAGCCTCACTGCATAATGACTCCGAAGTATCTGGTTTGCAAATGTCTTCATTAATACAGGAAACAGTGCTTGCTCTTTTTCAGTAAGTATTCAATAACAAATCTGTTTAAGTTGTATAAAAAATACAAAAATCTTCCCACAGTATCTACTCTCAGTGATTCAGGTTAAATTATTATTATTTTTTTATTATTATACTTTAAGTTCTGGGATACATGTTTAGAACGTGAAGGTTTGTTACACAGGTATACGCATGCTATGGTGGTTTGCTGCACCCATCAACCTGTCATCTACATTAGGTATTTATCCTAATGCTATCCCTCCCCTAGCCCTCCACCCCCGACAGGCTCCAGTGTATGATGTTCCCCTCCCTGTGTCTACATGTTCTCATTGTTCATCTCCCACTTATGAGTGAGAACATGAGGTGCTTGGTTTTCTGTTCCTGTGATAGTTTGCTAAGAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAGAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGGTATATGTTTGCCACATTTTCTTCGTCCAGTCTATCATTGATGGGCATTTGGGTTGGTTCCAAGTTTTTGCCATTGTGAACAGTGCTGCAATAAACATACGTGTGCATGTATCTTTATACTAGAATAATTTATAATTCTTTGGGTATATACCCAGTAATGGGATTACTAGGTCAAATGGTATTTCTGGTTCTAGATCCTTGAAGAATCGCCACACTGTCTTCCACAATAGTTGAACTAACTTACACTCCCACCAACAGTGTAAATGCATTCCTATTTCTCCACATCCTCTCCAGCATCTGTGGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGCATGAGATGGTAACTCATTGTGGTTTTGATTTGCATTTCTCTAATGACCAGTGATGATGCGCTTTTTTTCATGTTTGTTGGCTGCATAAACACCTTCTTTTAATAAGCGTCTGTTCATATCCTTTGCCCACTTTTTGATGGGGTTGTTTGCAGGTTACATTATTTTTTAAAAAAATAAGGAAAAACTCCAAAGTAAGACTACTGAGAATATGCTTTTAAATTCTTTCTACTTTTGAAAAAATTATAAACATATTTTAGGTTGTGGCAATTGTGGAAGTTTCAAATTTCCACTCCACTATAACTTTCCATGGTTTTATGAAGGTCTAAAACATGTGGCAGCCAACAAAATAGATGTGTTAACATCTTACATCAAGTTCTGAGAATAAGTTCTTGATTCAGCATCCTTTAGTCGAGCCACCATGGAGAATGGGAGAAGGTGACTGGTCATATTAAATGCATTACATTCATTCATAGTTGGCCAAATGATTATAGTACATAGCTAATGTAAATCTGCTATATCTTTGATAGTGATGAAAAAGCCACTGACTATTTCAGTCTCCCAAAATACAAATGAATAATCTAGTGCACACTTTTGAGAGAACTATAGAGATTCCTGGATGCCATATTTAACATCTCATCAATGACAAGCTTTATTTCTCTCATAGAAGCATTTTTCTATATTATATTTGACTGCATTTTATTAACTTTTCTTATACTCTAAAAAGCACAGGCATTCAAAAGCTCTCAACGAGGAGACCATGTCTTCATTTTGAGGGTGACATACTGACCCAGACAAATCCAGCCAGCTAAGTAGAAATGAAAATTCAATTCCAAATAGAAAATACTGAGAAATAATTTTTGCAACAATACTTAAATGATTATAGAAGCAACTAGATAGAGCGAAACATTCAAGCCCCAGTTCTGATTCTGCCATTCATTTATTTTTCTACTCTCTTCTTTCTTGAATGAACAAAGCTACTTCTTTTAACTTATTAGTGTTGTGTCTCCTAGTTCACCTCAAACATTCTGTATCTTCTTATTCTCTCTCCATGTGAATGAAAATGTCTTAACAGAAACCAACCTAATTGAAAGATTACCAAAACCCTATGGACAGCTAGAGCAGATGGGGTTGTTTTATTTTACAAATATTCTAAGTCACCTCTTTTTCCTGACAGACTAACCTTTGCTACTGATACAGGCCATTCCCAAAGCTATCTTGTTTTTAAGTCACAAGTACAAATTGAGAGTATGCTGAGACATAAGTCCAATTCGTGGTATGCCATTCATTTTCTCATTCAAAAAATAGACACTGAGAGTTATACAATGCATCTGGCACTGCTTCCGGAATTAGAAAAATAGTGGTACACAAGAATGACACACTAGTCATCTTCTTGAAGCTTATTTCCAATGAAAGTTTCAAACAACATTTAAAATAATATAATGTGCTATCACTTGCCAAGTGAGTCATTTATTCTAAGCATGTTATATATGTTAATTCACTTTACAACAAAAAACCTGTAAGAATTAAACAACATCTCCACTGTAAAGATTAGGACACTGAGGAACACAGAGGTTGTGTCTTGTCAAGGTCACAGAGCTAGTCAGTGGCTGCATCCAGGACTCACGGAACTAGAATCTATGTGTTAAATCACTCTATCATATTACCTCTCATTAACAGCAAATAAATAAATATATCATTTCAGGGACAGATATCTTCTATGAATAAGGATAAAGCACTGTTCAGGAACATGGGGCAATGGAACGGGGATATAGTAGTTTAGACAACAGGGTCAGGGAAGGTTTCTGTGAGGAAGAGATATTTGAGGAAGAACCTGGATGATGAAAAAGGAGAACTTTTGAGAAAATCTGGGTAAAGCACATTTCAGGAAGAAAGAGCAAAGACTTAAAGCAGGAAGAAACTAAGAGTGTTCAAGGACGAACGACAAAGAGAATGGTTAGGGTGGCTGAAAGAGTAATCTAGAAGGGCTAGATTACGTAAGGCTTTGTAGTTCTAAATAAGGGGTTTGAATTTCATTCTAAGTGTTATGGCTTTTAGGGGTTTTTAAGCAAAGGAAAGACATTTGATTTTTTTTTAAGCTTTTTTTTGTTTTGTTTTGTTTTGTTTTCTGGTTGTATTGTTAAAAATAGAAGGGCTAAGAATTAGGCTCCTGAGAGGTTCATATCTCAGGCTCAGCAGAGGAGGAGGAGCCTACAAAGAAGCCCAAGAAAGATAAACCAATGAGGTGAGAGGGAAATAAAGAAAATCATGCCTGGAAGGCCAAATTAATAAAATGTTTCATGAAGAACAGGGGGGTCACCCTGTCAAATCTGGCTGGGAGTTTAGGATGAGGTCTGAGAATTGATGGATTTGGCAAGGAGGAGGTTGTTGGTAACTTCGACAAGAGTGACTCTGTGAGGATGGTGAAGAAAGAAAACCTGGTTAGAAGGGGGTTGAGGAGCCAATTGGATTGGAGGAGGTGGGAGAGCAACTAACAACTCTCTCAGGAGAGAATTCTTTCAGGGAAGCAGAGAAACATCATAACAATAGAGGTAGGGGCCATGAGAGAACACCTTTTACTATGAAGGTAGTTCGGTATGGTTATATGTTGATAGGACATATATGGGTAGTTCAGTATGGGTTATACGTTATATGTCCAGTGGGAGGGAGAGTCTGAAAAAGCAAGAGAGAACAAAGAGTAATTCATACAGCACAGTTCTTGTCTATGAGGGAGGAACTGGGCTCTCGGCAGGAGCAGGAAGAGTTCATTACTTGTAATAGGAAGGAAGACAGCGCACGTGGGTGTAAATGCAGGTACACTGCAAGACTGACGGTGTGAAGACCAGACTGTTCTGCTCTATTTTCTCAGTGAAATAAGAATAAAAGAAGTGAAGGGAAGTAGGGAGTGATAGAGGATTGAGGAGGAAGGAGAAAGTATGAAACAAACAAGTAAATCAAGTAGGAAAAGGTAGTTGAATTTCAGGCCAGTCCCGAGGGCCCGCTTGAGATTCTACTCTAAAACATTTAAATGAAAAGAGCTTTGCTGATAGAAGCAGCACTGGACCAGATAAGATAATTTTGGTTCTAATACCAGTTTTGCCACTTCCTGGACATACACCCTTGGGCAAGGCACCAAACCTTTCTGGACCTCAGTTTGCTCATCAAGTAAAGTGATAACGTGTGGGTCTGCTCCACTCGGAAACACCCAGAAATGTGTGGGGCACTTTGGGATGTCCTGGCAAATATCAGCATTCAGTACTGCAGGTCTGGGGTACTCAATGTCCTTTAGTGTACGGAAGGGTCTTGCAAGACAAATAACTGTCCCTCCCCCATCTCCAGCAGCACATACTCCTGTTGAGAAACACAGAGGCAGAGGATCACTCCAAGAGTCCTCTCAACTCCAAGACTGATTGTAATCTTAATTGTCCATATCATGGAAGCTAGCTCTTACACTGATGGATAAACCATACATCCATTTAACTCAATACTATCAATCCTCACTCTTGCCTCCTAGACTGATTACAGGCTGCTAGCCAGGCAAAATGAACAGAAGTTGAGTTTGCCCTTGTTATTTCCTCAGGCCTTAGAGGTACTAATGAGCAGCAAAACAGTTTATAGATTATAGCCAAGAAAAGAAACAGGCAGCACAAGGTGATACAGGAAAAAAAAATGCCCTCCATTATGATGAAAACCATTGTCATTAACTATCATAGCAATTAAACATAAATGCTGTCAGCGATAACACTCAATAGTAGCAAAGAAAGTTTGGTACCTAGGTTTCGCCTGCATGGAATTAGGTAGCATCTCACTACCATAAAACGAGAAAAATTAATTTTAATGGTATTGACCACAAGGACCCCAACATGAACTGAAAATTAGTTGACAAGGACAGGGCAATTATCAAAGGCAATATATCAAATTCCACTCAGATGATCAGTGGGGTGCTGTAGGCATTGCTGCTAGTGACCTTTCTAGTTGACACCTTCATTAATGATGTGTAAGATGAAGACCAGCATGTAAACATATTCCAGAATGATTCCACTACGGGGGTCATACCAACTGCAAGCTTCCAACATCCCAGAATTACTTAAATATAAATGAATACAGAGGTCCCTGGGAAGATTTAAAATTTAAGGTAGGTGATTGTATAGTGAGATAATACAGACAGATGGGTAAAAGCCTAGGTGAAAATCTCTAATAGCATGGTGATTCCTGAATGAAAAAAAAAAAATCAGTAATTACACAGATCTCAAATAGTTTTTTCACTGACATTTATTGAATAAAATGCTGGCCAGATATTATAAACACTACTGTTTCATCTATAAAATGTAAACAAATACAGAAAACATATACAATTAACCACTGTGCTTTTTTTGACTTAAAAAATAAAAAAAAATTATGGTACAATTTTTTTAATTGAGGTTAAATTTATATAACATAAAATCAACCATTTAAAAGTGAATGATTCAGCGGCAGTTAACACATTCACAACGTTTTGCAACCACTATTTCCATCTAGTTCCAAAACATTTTCATCACTCCAAAGGGAAACCCTATACACCTTATGCAATTGCTCCACATTCCCCGTTCCTCCTTGCCCCTGGCAACCAACAGTCTGTGTTTTGTCTCTGTAGATTTAGGTACTCTGGGTATTTTATTTAAGCCGAGCCATACAACACATGACCTTCTGTGTTTGGCTTCTTCAATTAATATAATGTCTTCAAGACTTATCCATATTGTAGCATGTATCAGTACTTTACTCCTTTTGATGGCTGAAGCCAACATGCTTTTAAACTGCAATGTTAACTTTAAAGTATGACAAGGACATTCATGCCAGTTCTGAGTGAAAACAATAAGTAAAACCCAGTAGAAATCCAGCAAAACCTCAACTATCCTGATTAATAAAACTCTTTAAAAAAGAAGAGCAGTAAAAAGCTTATTTTATTAATTTTACTACTGGGAAGGCTTTATGAAATGAAAAATGTTACTGTTAGCCTTTTCTTTACTTTTAAGTGACATTTAGATATTCACTAATGAGATATAGTAAATATTTATTAATTATTGATGAGCTGGAAGGTTTGGGGTTCCCTGGCATGCTAGCTACCAGGGAAGGTGCTCAGTAAGTGTTTAATGAATTGCGATAAGCATAAAGAAGACTGTAGGGGTATTTTTTGGCGTGTGTTTGCTTCTCTCCAATTGGGGCTAATGTTGTATGGCTGACATGAGCAGAGGTAGTTGTTTCTGTTCTAGTGTTAATTTCATTGATTCCCAGAGTTATCACCAACCTGTTTCTAAACTGATACCCTCATCCACCCCAGGGCTTGTGGAACTGGTTGCTTTTGCATAACATTTCCTGAGTAGGCTATAGAAAAAAGTCAGAGAAGATTTTCCTTCTTCCTTTTAAAATTTGTATCTCCAATGTAACTTCTTTCCCTCTCTCATGGTTCATTATCAGAAAGACTCTGTAGGATTTTTATTCTGTCTAGTACAGAATTTCTACATTTTTATTCACTGTCCGAGACACAGTAAAGTAGTTTTTTCAGTAGAATATTGGTGGTAACAGTGACTTTTCATCCTGTAATTTTAACCCAAAGTTTTCTAATTATTCAGTTTATATGCTCATGATTTAATTGAACAAATACTTTCTTATTATGAAAATTGGAATGGTGAACTCCTCTGAAGAACCTCAGTCTATTCAACTGAAGTGGGTTAGTGATCTAACTTGATTTCCTAATGATACCTTGGGGGAGGGGAAAAAAGGTCCTTTTTATATCACAAGAGTTTTTAGAGAGAATACTAAGAAGCTGAGAGTCCTTTTACAATGTATAAATTTTTCTCCAAGGAGATATTATTTTGTTCTTTCTTGTGTTTTAGATAGTTGGGCAAAAGGCACCATGCAAAATAACTGAAATTTAACCCTTTGCATGTGTGTATCTTTTCATAAATGTGTATTTTTAAAACTGCAGTTATATTACTTACTCAGTTCAAGTGAGATGGCAATTAATTCCTGCAGAAATTAATAGTTTCACAAACAGCTTCTAGAATATATTTAGCTTCTTACTAAAATGCTTCAGATTGGGTTATTGCTTCTATGAAAATGTGTTAATTAGCTGTAATAACTATAAATTGCAGATAAACTATTTATATTCTTTAATGTAATTGCAGTCATATATAAAACCAAATTGCATTCACATAAAAATAAATTGGGAGGGGGCAAATCAACTATTTGGAACATAGTTTGTTACAGAGGGTTCAGAACAAGAAGCGCATATATTCAACTGGGCAGGATATTACAAACACAGAGAAATCAAACCAGATACAGTGCTGAGACACAAAATAACACATGCTCTCTGTAAAATTTGATGAATCTATAAAATTGGATGGAACAATGACCCAAACTACTGAGTCTTCCGAATTTCAGGCCAGTGTTGGTTATGATGGTACTTTGCCACAAAACAGAGATAAGAGACATTTATAGTGTAGCAAGTGGAAGAACAGAGACATTTATGAAGGTAGAAGATTCATGACATATAGAAAGAACAAAAGAGGCCAGCAAACAAAGAGGCATGTCATTTTTTCCCAAGATAAACTTGCTGGAAGCCCACAGCGTCCACCATTCCAGCACAACACCATGAGGCACACAAGTCAGTCTCCAGAGACTTTTATACCAAATACTGCAGCAACAAACACTGGCATAACTGGATTACATGTTTATTTCATAACTGGATTTTGACTACTGGGAAGCGATTTCTGCAAAGGAAGCGAAAAGCTCCACATTGCTGGGAAATAAAGCTTTGGTAAAATGACAATTGCATATTTGCACAATATCCTTCATAGTTTGGCTACTCAATGTCCTCATCCAGACACACCCTGCTGACCTTTATCAGTGATTGTGTATTAACTTCTTAATTCTGATCTATGTTGCTCAAAGAGTGATGAAATAGTCTATTTCCTCCCTAAATATACGACAATGTAAAAGAAATAAGGCAACCTCAATAAGAAAATAGGCAAAATACTGGAACAAGCAACAAAAACACATATGTGGGAAATGGGTAAGAAATGTGAAATAATGTTCAATCATATCAGAAATAAAAATCATCACATGGGTGATGAGATACCATTTTTAGCATCACGTCGGCAAAGCCTTTGGAAAGTGCAATTTGAGTAGAAGGGGAGAAAACAAATGAAGATGGTGGGGAATAGATAGGAGAGGAGAAAGTAATGACAGCAAACGTAGAAAATGCTTTCAAATTGTTTTGCTTCAGAGCTGAAGGGGAATAGAAGGGTAAAGGGAAAACGTTGGCTAGTTTTTAGATGAGAGATACTTAAGCAAGTTGAAATGCCAAAAAGAAGCCACTTGTAAAAGGAAACAGGCTAGAGATAGGGGAGACAGTAATGGTGCCAGGGTAATCAGCCTCGGAGAGGAGGAGATACAAACCAAGCACAGGTGGAGGGAACCAGCCTCAGGCGGAGCAATTACCTTAACCTTTCCAAGCCTAATGTCTTACCTTTAAGCTAAGAAAAACAATACTGATCACTTAGAACACATTATGCAAGTAGCATCTGGCATACAGAAGTTTATTTATTTTAATGTTAATGTTTTAAAACAAAATGTCCTTGGTTCCTACCAATGGCTTTTACACAAATGTCATGTATGTTCAAAAGCAAATTCCTTGGCAGGGACAAGGTCATGCTGCTCCACTGTACTACAAAACGCCAGTTCATGTCAAATAAAGTATTTATAAGGAATTAATAGTTTGGCAAACAGTCAGCAAGTATTTATTGGAAGGAGCGCAGATGTGTTCCTTATTTGGGGTCACACGGATGTGAGTTTGAATCTCTGGCCCTACCAGTTTCTCACTCAGTGTTTTTCATTGTTGTATGTTTGATACTTAGAAAAGTGGCTGGCTTAATAAATATTTGTTGAAGGGGTAAATGATTAAAGCGCTCTTAACTTCTTGGTAACTTTGGCTCCAGGATCTGAAAATAAAACTAATAGTAATGATAACCCAGGTGTGTTACAGGAATGGAAAGAATACATTGAAGCAGTAAATCAGTGTCTGGCACTTAGTTGGATCAGTAAGGTAATTATCATTCTTTAGCAGTCATAGTAAAAAGAAGTAATTGTTTGAAGATTAAGAAAAAGTTTAAATAAATCATAACTCTATTATTTTAAAAACCTAAAACACACTATTAAGGTGACCAGTTTAAAATATTTTTTACTTGGAGATACCTTCCCAGAATTTGTGCTGAAGTGACATAATAGATATTGATGTGTTATTTCCCCAGTTTGAGTGCTTTGAAGGTGCCAACTATAGTGATCTAATGTGCTATAGAAATTACTACTGAAGTACAAGCATAATGGAACCGTTGCCATAGAAATGGTATTTTGCTACCCCACTCTCCTCATTTAGATGTGCTTCCTTCATATAAGGAGAAAAACAAAAAACAAGAACAGAAATAAAACACTGAGGGTACTTTCTATTTCTGATTTAAGTATTTTTTTCCTTTTAAAATAACAGGCCTAATAAAAAACAAAAATCAATAATCAGAGCCAGAATATTCACCCCTACCTCAAAGTTAAGTTTCTAATATGATATAAAATTGCTAAAAATCCTCTTACCCCAAAACCTATAGCTGTTTTAAGTTATATAAAATTTAACAAACAGTAAAGTTTTCTAAAAATGTAGAAACGGAAAAGAGGGACAGAATAATCCCTATGTATGTCAGATTATCTATAAACACAAATACATCACATGTCCAAGTTGTGTCTTTTTTATATTCTTTACATTGAACAATGATATAATACTTAATATGGAGCAATGTCTTTATTTTCACAGTTAATTTCTATCTAGACATTTGTAGTGGATTGAATAGTGTCCCTTCCAAAACAAAAATACGGTCAAGTCTTAACCCCGATAACTGTGGATGGGACCCTATTTGGAAATGGGGTTTCTGCAAATGTAATTAAATTTTAAATCTTAGGATGAGATAATTCTGGATTTAGGGTGGGCCCTAAATCTGGGGACTGGTGCTATTATAAGAGAAAGGAGACAGTGATTTGGGACACAGAGACACAACGGAGAAGGCCATGTGAGGATAGAAGCAGAGATTAGAGCAATGGAGCCCCAAGTCAAGGAACACCAAGGATTCCTGAGAGTTAGAAGCTGGGAGAGAGGCAAGGAACAGATTCTGCCTCAGAGCCTCCAAAACAACACAACCCTACCAACAGTTGCTTCTAAGATAGCTTGTTATCAAAAATTACATTTTAAGACAATTATTTTCATATTTATATTTTAATAAAACATTTAAAGCAATTATTTCATACAAAAATAAACTGCATTTTTTTATATACTAGCAGTGAACCCTTGGAAATTAAATGTAAACATTTCCAATATCATAAAAAAACCGGCTGGGCATGGTGGCTCACACCTGTAGTCCCAGCACTTTGGGAGGCCGAGGCAGGAGTATCAGGAGGTTAGGAGCTCGAGACCATCCTGGTCAACATGGTGAAACCCCGTGTCTACTAAAATACAAAAAATTAGCCAGGCATAGTGGTGCATGCCTGCAGTCCCAGCTACTCGGGAGGCTGAGGCAGGGGAATCGCTTGAACCTAGGAGGCGGAGATTGCAGTGAGCCCAGATCGAGCCACTGCATGCCAGCCTGGCGACACAGCAAGACTTCGTCCCCTCCCCCTACAAAAAATAAACACCCCACAAGGTTCTTAAGAATGAGTTTGACAAAATATGTGGGAGACCTGAAGGTAGAAAACTACACAACATTGATAAGAAAAATTAAAGAATATTAAACTGAAAAACCCAATATTGCTATAATGTCAATCTCCCATAATTTGATGTATAGAATTAAAATAATCTCAATGAAAACCCAGCAGGACTTTTTGGTTTTGAAAAAATCCACAGTCTGATATCATAATTTATACAAAAAACAAAGGGCCAGACCATTCGTCTAAGCAAATTAACACAGGAACAGAAAAACAAATACCACATGCCCTCACTTAGAAGTGGGAGCTAAACACTGGATACTCATGGACACAAAGAAGCCAAAGACAGAAAATGAGGACTACTAGAGAGGAGAGAGGGAGGAGAGAAAGGGTTGAAAAACTGACCACCCGGCACTAGGCTCAGTACCTGGGCAATGGGATCATTCATAACCCAAACCTCAGCATCATGCAGTACACCCAGGTAATATACCTGCACATGTACCCCCTGAATCTAAAATAAAAGTTGAAATTTTAAAAAAGTCCAGAAATAGCTAAAACAATTTAGAAAAAGTAAAACAAAATGGAAGTCTCATAATACCTGATTTCAAGACTTATTACAAAGCTACAGTAATAAAGATAATTTGATATTATCATAAAGATAGCCATATACATCCATAGAACACAATAGAGTCCGGAAAGAGACCCATACATATAGGGTCAATTGATTTGCAATAAAGATGTCAAAATAATTTAATGCGGAAAGATTAGTTTTCAATAAATTGTGCTAGAACAACAGAGAATCCATAAGCAAAAAACAAAAGAACTTGGGCTGTTACCTTGCACCATCCAAAATAATTAACTCAAAACAGATCATAGACCTAAATGT	(Likely) benign	1 lab	a27a0d2441
12:80191114 PPP1R12A C>A	12	80191114	80191114	C	A	PPP1R12A	c.2153G>T	NM_001244990.2	NP_001231919.1:p.(Arg718Leu)	NC_000012.11:g.80191114C>A	VUS	1 lab	a27c6c5dce
3:193372737 OPA1 A>G	3	193372737	193372737	A	G	OPA1	c.1934A>G	NM_015560.3	NP_056375.2:p.(Asn645Ser)	NC_000003.11:g.193372737A>G	VUS	1 lab	a281f5c80f
10:50678608 ERCC6 GA>G	10	50678608	50678610	GA	G	ERCC6	c.3397del	NM_000124.4	NP_000115.1:p.(Ser1133GlnfsTer19)	NC_000010.10:g.50678610del	(Likely) pathogenic	1 lab	a283a7e1bc
13:52515330 ATP7B A>G	13	52515330	52515330	A	G	ATP7B	c.3443T>C	NM_000053.4	NP_000044.2:p.(Ile1148Thr)	NC_000013.10:g.52515330A>G	(Likely) pathogenic	1 lab	a28914dc6a
6:88228524 RARS2 G>A	6	88228524	88228524	G	A	RARS2	c.1305+18C>T	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88228524G>A	(Likely) benign	1 lab	a28e3dd1c8
3:9488744 SETD5 A>T	3	9488744	9488744	A	T	SETD5	c.1535A>T	NM_001080517.3	NP_001073986.1:p.(Asp512Val)	NC_000003.11:g.9488744A>T	VUS	1 lab	a29073e52c
17:41244268 BRCA1 AG>A	17	41244268	41244269	AG	A	BRCA1	c.3279del	NM_007294.4	NP_009225.1:p.(Tyr1094IlefsTer15)	NC_000017.10:g.41244269del	(Likely) pathogenic	1 lab	a2916004ea
15:44905678 SPG11 G>A	15	44905678	44905678	G	A	SPG11	c.3095C>T	NM_025137.4	NP_079413.3:p.(Pro1032Leu)	NC_000015.9:g.44905678G>A	VUS	1 lab	a292b26c1f
1:209807875 LAMB3 G>A	1	209807875	209807875	G	A	LAMB3	c.481C>T	NM_000228.3	NP_000219.2:p.(Arg161Cys)	NC_000001.10:g.209807875G>A	VUS	1 lab	a293562bf1
19:13318224 CACNA1A C>A	19	13318224	13318224	C	A	CACNA1A	c.7442G>T	NM_023035.3	NP_075461.2:p.(Gly2481Val)	NC_000019.9:g.13318224C>A	VUS	1 lab	a2954dc23c
10:43612198 RET C>T	10	43612198	43612198	C	T	RET	c.2284+19C>T	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43612198C>T	(Likely) pathogenic	1 lab	a2a29ee1a0
X:14876028 FANCB CTT>C	X	14876028	14876030	CTT	C	FANCB	c.1151_1152del	NM_001018113.3	NP_001018123.1:p.(Gln384ArgfsTer31)	NC_000023.10:g.14876029_14876030del	(Likely) pathogenic	1 lab	a2a487687f
2:179447158 TTN T>A	2	179447158	179447158	T	A	TTN	c.66025A>T	NM_001267550.2	NP_001254479.2:p.(Thr22009Ser)	NC_000002.11:g.179447158T>A	VUS	1 lab	a2adb63ae7
3:48627704 COL7A1 A>T	3	48627704	48627704	A	T	COL7A1	c.1992T>A	NM_000094.4	NP_000085.1:p.(Ala664=)	NC_000003.11:g.48627704A>T	(Likely) benign	1 lab	a2b4d7054d
2:179439559 TTN C>T	2	179439559	179439559	C	T	TTN	c.71300G>A	NM_001267550.2	NP_001254479.2:p.(Arg23767Gln)	NC_000002.11:g.179439559C>T	VUS	1 lab	a2b59db059
9:135772653 TSC1 A>T	9	135772653	135772653	A	T	TSC1	c.2893T>A	NM_000368.5	NP_000359.1:p.(Leu965Ile)	NC_000009.11:g.135772653A>T	VUS	1 lab	a2b6085e8b
17:41243868 BRCA1 TGGAA>T	17	41243868	41243873	TGGAA	T	BRCA1	c.3676_3679del	NM_007294.4	NP_009225.1:p.(Phe1226AsnfsTer8)	NC_000017.10:g.41243870_41243873del	(Likely) pathogenic	1 lab	a2bc0209c0
12:52913723 KRT5 C>T	12	52913723	52913723	C	T	KRT5	c.358G>A	NM_000424.4	NP_000415.2:p.(Gly120Arg)	NC_000012.11:g.52913723C>T	VUS	1 lab	a2c3f1cd68
6:111695653 REV3L C>G	6	111695653	111695653	C	G	REV3L	c.3905G>C	NM_002912.5	NP_002903.3:p.(Ser1302Thr)	NC_000006.11:g.111695653C>G	(Likely) benign	1 lab	a2c7879f20
18:77246368 NFATC1 C>A	18	77246368	77246368	C	A	NFATC1	c.2213C>A	NM_001278669.2	NP_001265598.1:p.(Pro738His)	NC_000018.9:g.77246368C>A	VUS	1 lab	a2c7ddb401
12:4409117 CCND2 C>A	12	4409117	4409117	C	A	CCND2	c.812C>A	NM_001759.4	NP_001750.1:p.(Ser271Ter)	NC_000012.11:g.4409117C>A	(Likely) pathogenic	1 lab	a2c875e492
16:23641792 PALB2 T>C	16	23641792	23641792	T	C	PALB2	c.1685-2A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23641792T>C	VUS	1 lab	a2cd42ebdf
2:203329655 BMPR2 A>G	2	203329655	203329655	A	G	BMPR2	c.200A>G	NM_001204.7	NP_001195.2:p.(Tyr67Cys)	NC_000002.11:g.203329655A>G	(Likely) pathogenic	1 lab	a2cda58c6b
11:121429359 SORL1 A>G	11	121429359	121429359	A	G	SORL1	c.2723A>G	NM_003105.6	NP_003096.2:p.(Asp908Gly)	NC_000011.9:g.121429359A>G	VUS	1 lab	a2ced15b28
15:73635841 HCN4 G>A	15	73635841	73635841	G	A	HCN4	c.1094C>T	NM_005477.3	NP_005468.1:p.(Ser365Leu)	NC_000015.9:g.73635841G>A	VUS	1 lab	a2d05b1cb3
X:99657663 PCDH19 G>GCAGCC	X	99657663	99657671	G	GCAGCC	PCDH19	c.2470_2474dup	NM_001184880.2	NP_001171809.1:p.(Cys825TrpfsTer11)	NC_000023.10:g.99657667_99657671dup	(Likely) pathogenic	1 lab	a2d0903db9
17:41222997 BRCA1 C>G	17	41222997	41222997	C	G	BRCA1	c.4934G>C	NM_007294.4	NP_009225.1:p.(Arg1645Thr)	NC_000017.10:g.41222997C>G	(Likely) benign	1 lab	a2d8bd2a04
6:32800412 TAP2 C>T	6	32800412	32800412	C	T	TAP2	c.1135G>A	NM_001290043.2	NP_001276972.1:p.(Val379Ile)	NC_000006.11:g.32800412C>T	(Likely) benign	1 lab	a2e01bd996
2:179467255 TTN C>G	2	179467255	179467255	C	G	TTN	c.54874G>C	NM_001267550.2	NP_001254479.2:p.(Gly18292Arg)	NC_000002.11:g.179467255C>G	VUS	1 lab	a2e0928d41
16:16302640 ABCC6 C>A	16	16302640	16302640	C	A	ABCC6	c.739G>T	NM_001171.6	NP_001162.5:p.(Glu247Ter)	NC_000016.9:g.16302640C>A	(Likely) pathogenic	1 lab	a2e4db2886
14:35585947 PPP2R3C G>C	14	35585947	35585947	G	C	PPP2R3C	c.59-4C>G	NM_017917.4	NP_060387.2:p.?	NC_000014.8:g.35585947G>C	VUS	1 lab	a2e7821bf2
2:179667089 TTN A>G	2	179667089	179667089	A	G	TTN	c.92-21T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179667089A>G	(Likely) benign	1 lab	a2e9a3206c
9:2181567 SMARCA2 A>G	9	2181567	2181567	A	G	SMARCA2	c.4254-4A>G	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2181567A>G	VUS	1 lab	a2eb58bbb1
9:35792423 NPR2 T>C	9	35792423	35792423	T	C	NPR2	c.18T>C	NM_003995.4	NP_003986.2:p.(Leu6=)	NC_000009.11:g.35792423T>C	(Likely) benign	1 lab	a2efc6b4e9
20:3893185 PANK2 CT>C	20	3893185	3893186	CT	C	PANK2	c.444del	NM_001324191.2	NP_001311120.1:p.(Arg149ValfsTer10)	NC_000020.10:g.3893186del	(Likely) pathogenic	1 lab	a2f0051e2e
1:237791147 RYR2 G>A	1	237791147	237791147	G	A	RYR2	c.6207G>A	NM_001035.3	NP_001026.2:p.(Trp2069Ter)	NC_000001.10:g.237791147G>A	VUS	1 lab	a2f377a3ad
6:152688522 SYNE1 A>G	6	152688522	152688522	A	G	SYNE1	c.9829-5T>C	NM_033071.4	NP_149062.2:p.?	NC_000006.11:g.152688522A>G	(Likely) benign	1 lab	a2f66132da
2:26700099 OTOF G>A	2	26700099	26700099	G	A	OTOF	c.2464C>T	NM_194248.3	NP_919224.1:p.(Arg822Trp)	NC_000002.11:g.26700099G>A	(Likely) benign	1 lab	a2f6ab9e93
17:56284567 MKS1 A>T	17	56284567	56284567	A	T	MKS1	c.1286T>A	NM_017777.4	NP_060247.2:p.(Leu429Gln)	NC_000017.10:g.56284567A>T	VUS	1 lab	a2f907dbc6
1:22160419 HSPG2 C>CT	1	22160419	22160420	C	CT	HSPG2	c.10721-2dup	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22160420dup	(Likely) pathogenic	1 lab	a2ffc90a7d
15:93470538 CHD2 C>T	15	93470538	93470538	C	T	CHD2	c.359C>T	NM_001271.4	NP_001262.3:p.(Ser120Leu)	NC_000015.9:g.93470538C>T	VUS	1 lab	a300005028
7:73482982 ELN T>A	7	73482982	73482982	T	A	ELN	c.2318-5T>A	NM_001278939.2	NP_001265868.1:p.?	NC_000007.13:g.73482982T>A	(Likely) benign	1 lab	a306f6ee6e
8:121383048 COL14A1 T>C	8	121383048	121383048	T	C	COL14A1	c.5312-343T>C	NM_021110.4	NP_066933.1:p.?	NC_000008.10:g.121383048T>C	(Likely) benign	1 lab	a30a362770
12:49436554 KMT2D G>A	12	49436554	49436554	G	A	KMT2D	c.5752C>T	NM_003482.4	NP_003473.3:p.(Arg1918Cys)	NC_000012.11:g.49436554G>A	(Likely) benign	1 lab	a30c1a1b00
14:103336611 TRAF3 C>A	14	103336611	103336611	C	A	TRAF3	c.73C>A	NM_003300.4	NP_003291.2:p.(Arg25Ser)	NC_000014.8:g.103336611C>A	VUS	1 lab	a30e05e878
10:79779023 POLR3A C>A	10	79779023	79779023	C	A	POLR3A	c.1186G>T	NM_007055.4	NP_008986.2:p.(Val396Leu)	NC_000010.10:g.79779023C>A	VUS	1 lab	a310b91068
19:59012027 SLC27A5 C>T	19	59012027	59012027	C	T	SLC27A5	c.1229G>A	NM_012254.3	NP_036386.1:p.(Gly410Glu)	NC_000019.9:g.59012027C>T	VUS	1 lab	a313e80d41
1:214825152 CENPF G>A	1	214825152	214825152	G	A	CENPF	c.8083G>A	NM_016343.4	NP_057427.3:p.(Glu2695Lys)	NC_000001.10:g.214825152G>A	VUS	1 lab	a31c73aeea
1:78408348 NEXN T>C	1	78408348	78408348	T	C	NEXN	c.1862T>C	NM_144573.4	NP_653174.3:p.(Ile621Thr)	NC_000001.10:g.78408348T>C	VUS	1 lab	a31e0421b9
17:27055862 NEK8 G>A	17	27055862	27055862	G	A	NEK8	c.31G>A	NM_178170.3	NP_835464.1:p.(Gly11Arg)	NC_000017.10:g.27055862G>A	VUS	1 lab	a31e96ef3e
11:17417450 ABCC8 C>T	11	17417450	17417450	C	T	ABCC8	c.4147G>A	NM_000352.6	NP_000343.2:p.(Gly1383Arg)	NC_000011.9:g.17417450C>T	(Likely) pathogenic	1 lab	a31fd98daf
6:143095254 HIVEP2 T>A	6	143095254	143095254	T	A	HIVEP2	c.622A>T	NM_006734.4	NP_006725.3:p.(Ile208Phe)	NC_000006.11:g.143095254T>A	VUS	1 lab	a32696fa6f
12:6711144 CHD4 A>ATCC	12	6711144	6711166	A	ATCC	CHD4	c.417_419dup	NM_001273.5	NP_001264.2:p.(Glu139dup)	NC_000012.11:g.6711164_6711166dup	(Likely) benign	1 lab	a3322c8538
19:45525332 RELB C>T	19	45525332	45525332	C	T	RELB	c.526C>T	NM_006509.4	NP_006500.2:p.(Arg176Trp)	NC_000019.9:g.45525332C>T	VUS	1 lab	a3332acc2b
9:133352344 ASS1 AAAAGGTAT>A	9	133352344	133352352	AAAAGGTAT	A	ASS1	c.685_688+4del	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133352345_133352352del	(Likely) pathogenic	1 lab	a337c27629
11:125766022 PUS3 C>T	11	125766022	125766022	C	T	PUS3	c.158G>A	NM_031307.4	NP_112597.4:p.(Arg53His)	NC_000011.9:g.125766022C>T	(Likely) benign	1 lab	a339392b9e
19:50412858 NUP62 TGTGGCCGGAGTCTGG>T	19	50412858	50412878	TGTGGCCGGAGTCTGG	T	NUP62	c.192_206del	NM_016553.5	NP_057637.2:p.(Pro67_Thr71del)	NC_000019.9:g.50412864_50412878del	VUS	1 lab	a33d9f15a7
16:89383411 ANKRD11 C>T	16	89383411	89383411	C	T	ANKRD11	c.17G>A	NM_013275.6	NP_037407.4:p.(Cys6Tyr)	NC_000016.9:g.89383411C>T	VUS	1 lab	a341e29d65
X:43591104 MAOA G>A	X	43591104	43591104	G	A	MAOA	c.556+4G>A	NM_001270458.2	NP_001257387.1:p.?	NC_000023.10:g.43591104G>A	(Likely) benign	1 lab	a349ff60a0
13:32911397 BRCA2 C>T	13	32911397	32911397	C	T	BRCA2	c.2905C>T	NM_000059.4	NP_000050.3:p.(Gln969Ter)	NC_000013.10:g.32911397C>T	(Likely) pathogenic	1 lab	a34a1292cd
X:48542736 WAS A>G	X	48542736	48542736	A	G	WAS	c.197A>G	NM_000377.3	NP_000368.1:p.(Lys66Arg)	NC_000023.10:g.48542736A>G	VUS	1 lab	a34a26d990
11:17483374 ABCC8 T>C	11	17483374	17483374	T	C	ABCC8	c.580-2A>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17483374T>C	(Likely) pathogenic	1 lab	a34c47dca6
14:100820184 WARS1 C>T	14	100820184	100820184	C	T	WARS1	c.565G>A	NM_004184.4	NP_004175.2:p.(Val189Met)	NC_000014.8:g.100820184C>T	VUS	1 lab	a34c68225c
16:31012269 STX1B T>G	16	31012269	31012269	T	G	STX1B	c.260A>C	NM_052874.5	NP_443106.1:p.(Lys87Thr)	NC_000016.9:g.31012269T>G	VUS	1 lab	a3587cffc8
11:67378883 NDUFV1 C>A	11	67378883	67378883	C	A	NDUFV1	c.923C>A	NM_007103.4	NP_009034.2:p.(Thr308Lys)	NC_000011.9:g.67378883C>A	VUS	1 lab	a358ec9b4f
18:10474130 APCDD1 A>G	18	10474130	10474130	A	G	APCDD1	c.774+2072A>G	NM_153000.5	NP_694545.1:p.?	NC_000018.9:g.10474130A>G	(Likely) benign	1 lab	a35a0dc828
14:24718667 TGM1 C>A	14	24718667	24718667	C	A	TGM1	c.2306G>T	NM_000359.3	NP_000350.1:p.(Ser769Ile)	NC_000014.8:g.24718667C>A	(Likely) pathogenic	1 lab	a35ad678d6
14:103523506 CDC42BPB G>A	14	103523506	103523506	G	A	CDC42BPB	c.5C>T	NM_006035.4	NP_006026.3:p.(Ser2Leu)	NC_000014.8:g.103523506G>A	VUS	1 lab	a35c72fb26
17:1782686 RPA1 A>G	17	1782686	1782686	A	G	RPA1	c.937A>G	NM_002945.5	NP_002936.1:p.(Lys313Glu)	NC_000017.10:g.1782686A>G	VUS	1 lab	a366b998e7
5:125919644 ALDH7A1 T>C	5	125919644	125919644	T	C	ALDH7A1	c.373A>G	NM_001182.5	NP_001173.2:p.(Ile125Val)	NC_000005.9:g.125919644T>C	(Likely) benign	1 lab	a3679a62ef
10:112570156 RBM20 G>A	10	112570156	112570156	G	A	RBM20	c.1816G>A	NM_001134363.3	NP_001127835.2:p.(Val606Met)	NC_000010.10:g.112570156G>A	VUS	1 lab	a37233c830
17:7752007 KDM6B G>A	17	7752007	7752007	G	A	KDM6B	c.2401G>A	NM_001080424.2	NP_001073893.1:p.(Ala801Thr)	NC_000017.10:g.7752007G>A	(Likely) benign	1 lab	a37635a2b6
19:50364928 PNKP C>A	19	50364928	50364928	C	A	PNKP	c.1323G>T	NM_007254.4	NP_009185.2:p.(Ala441=)	NC_000019.9:g.50364928C>A	(Likely) benign	1 lab	a377b3239b
14:31581753 HECTD1 C>T	14	31581753	31581753	C	T	HECTD1	c.6151-4G>A	NM_015382.4	NP_056197.3:p.?	NC_000014.8:g.31581753C>T	(Likely) benign	1 lab	a37ff9599c
1:210857483 KCNH1 GGA>G	1	210857483	210857501	GGA	G	KCNH1	c.2113-5_2113-4del	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210857500_210857501del	(Likely) benign	1 lab	a3831d8f61
X:112022621 AMOT G>GAGC	X	112022621	112022637	G	GAGC	AMOT	c.2758_2760dup	NM_001113490.2	NP_001106962.1:p.(Ala920dup)	NC_000023.10:g.112022635_112022637dup	VUS	1 lab	a3833f9e35
13:111294805 CARS2 G>A	13	111294805	111294805	G	A	CARS2	c.1480C>T	NM_024537.4	NP_078813.1:p.(Arg494Trp)	NC_000013.10:g.111294805G>A	(Likely) pathogenic	1 lab	a383ff87ec
12:48371135 COL2A1 G>A	12	48371135	48371135	G	A	COL2A1	c.3241C>T	NM_001844.5	NP_001835.3:p.(Pro1081Ser)	NC_000012.11:g.48371135G>A	VUS	1 lab	a3874350bf
13:32905087 BRCA2 A>AAAG	13	32905087	32905090	A	AAAG	BRCA2	c.714_716dup	NM_000059.4	NP_000050.3:p.(Glu238_Ser239insArg)	NC_000013.10:g.32905088_32905090dup	VUS	1 lab	a388ae466c
X:153296072 MECP2 G>A	X	153296072	153296072	G	A	MECP2	c.1207C>T	NM_004992.4	NP_004983.1:p.(Pro403Ser)	NC_000023.10:g.153296072G>A	VUS	1 lab	a391461b69
2:179634868 TTN G>A	2	179634868	179634868	G	A	TTN	c.8560C>T	NM_001267550.2	NP_001254479.2:p.(Gln2854Ter)	NC_000002.11:g.179634868G>A	(Likely) pathogenic	1 lab	a395826c28
6:31085269 CDSN A>G	6	31085269	31085269	A	G	CDSN	c.123T>C	NM_001264.5	NP_001255.4:p.(Pro41=)	NC_000006.11:g.31085269A>G	(Likely) benign	1 lab	a396f1bb0c
3:113503664 ATP6V1A G>C	3	113503664	113503664	G	C	ATP6V1A	c.548G>C	NM_001690.4	NP_001681.2:p.(Gly183Ala)	NC_000003.11:g.113503664G>C	VUS	1 lab	a39b996d5e
17:8790484 PIK3R5 C>T	17	8790484	8790484	C	T	PIK3R5	c.676G>A	NM_001251851.2	NP_001238780.1:p.(Gly226Ser)	NC_000017.10:g.8790484C>T	VUS	1 lab	a39ebfbf67
19:7706729 STXBP2 C>T	19	7706729	7706729	C	T	STXBP2	c.568C>T	NM_006949.4	NP_008880.2:p.(Arg190Cys)	NC_000019.9:g.7706729C>T	VUS	1 lab	a3a0c864d9
20:61981655 CHRNA4 G>A	20	61981655	61981655	G	A	CHRNA4	c.1108C>T	NM_000744.7	NP_000735.1:p.(Arg370Trp)	NC_000020.10:g.61981655G>A	(Likely) benign	1 lab	a3a29d1078
13:49039144 RB1 G>GT	13	49039144	49039145	G	GT	RB1	c.2223dup	NM_000321.3	NP_000312.2:p.(Val742CysfsTer9)	NC_000013.10:g.49039145dup	(Likely) pathogenic	1 lab	a3a490f8af
1:20982631 DDOST G>A	1	20982631	20982631	G	A	DDOST	c.315C>T	NM_005216.5	NP_005207.3:p.(Gly105=)	NC_000001.10:g.20982631G>A	(Likely) benign	1 lab	a3a4f85547
17:18069710 MYO15A A>G	17	18069710	18069710	A	G	MYO15A	c.9823A>G	NM_016239.4	NP_057323.3:p.(Ile3275Val)	NC_000017.10:g.18069710A>G	VUS	1 lab	a3a6128c2d
6:15512494 JARID2 A>G	6	15512494	15512494	A	G	JARID2	c.3008A>G	NM_004973.4	NP_004964.2:p.(Gln1003Arg)	NC_000006.11:g.15512494A>G	VUS	1 lab	a3ac473610
12:111786082 CUX2 G>C	12	111786082	111786082	G	C	CUX2	c.4414G>C	NM_015267.4	NP_056082.2:p.(Val1472Leu)	NC_000012.11:g.111786082G>C	(Likely) benign	1 lab	a3ad4d1212
17:41215880 BRCA1 ATTATAC>A	17	41215880	41215889	ATTATAC	A	BRCA1	c.5152+5_5152+10del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215884_41215889del	(Likely) pathogenic	1 lab	a3adb7f553
9:133967240 LAMC3 T>C	9	133967240	133967240	T	C	LAMC3	c.*66T>C	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133967240T>C	(Likely) benign	1 lab	a3b160fc92
16:24580304 RBBP6 C>T	16	24580304	24580304	C	T	RBBP6	c.2293C>T	NM_006910.5	NP_008841.2:p.(Arg765Cys)	NC_000016.9:g.24580304C>T	VUS	1 lab	a3b1e85175
16:50733729 NOD2 A>G	16	50733729	50733729	A	G	NOD2	c.404A>G	NM_022162.3	NP_071445.1:p.(Gln135Arg)	NC_000016.9:g.50733729A>G	VUS	1 lab	a3b287cafb
15:77325238 PSTPIP1 G>A	15	77325238	77325238	G	A	PSTPIP1	c.874G>A	NM_003978.5	NP_003969.2:p.(Val292Ile)	NC_000015.9:g.77325238G>A	VUS	1 lab	a3b3435e65
9:101983914 ALG2 A>ACGG	9	101983914	101983922	A	ACGG	ALG2	c.260_262dup	NM_033087.4	NP_149078.1:p.(Ala87dup)	NC_000009.11:g.101983920_101983922dup	VUS	1 lab	a3cbf947c4
13:32913662 BRCA2 A>G	13	32913662	32913662	A	G	BRCA2	c.5170A>G	NM_000059.4	NP_000050.3:p.(Ile1724Val)	NC_000013.10:g.32913662A>G	(Likely) benign	1 lab	a3b4b30710
16:773367 CCDC78 G>T	16	773367	773367	G	T	CCDC78	c.1134-206C>A	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.773367G>T	(Likely) benign	1 lab	a3b60db8ff
1:78407895 NEXN T>C	1	78407895	78407895	T	C	NEXN	c.1659+2T>C	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78407895T>C	(Likely) pathogenic	1 lab	a3bcaca736
2:179477284 TTN G>A	2	179477284	179477284	G	A	TTN	c.49968C>T	NM_001267550.2	NP_001254479.2:p.(Arg16656=)	NC_000002.11:g.179477284G>A	(Likely) benign	1 lab	a3be669afa
6:157099402 ARID1B C>CCAGCAGCAGCAGCAGCAG	6	157099402	157099425	C	CCAGCAGCAGCAGCAGCAG	ARID1B	c.594_611dup	NM_001371656.1	NP_001358585.1:p.(Gln209_Gln214dup)	NC_000006.11:g.157099408_157099425dup	(Likely) benign	1 lab	a3bfefb5aa
17:39925809 JUP G>A	17	39925809	39925809	G	A	JUP	c.329C>T	NM_002230.4	NP_002221.1:p.(Ala110Val)	NC_000017.10:g.39925809G>A	VUS	1 lab	a3c4055448
17:7604141 WRAP53 C>T	17	7604141	7604141	C	T	WRAP53	c.725C>T	NM_018081.2	NP_060551.2:p.(Thr242Ile)	NC_000017.10:g.7604141C>T	VUS	1 lab	a3c7cd3e25
17:65936670 BPTF G>A	17	65936670	65936670	G	A	BPTF	c.6753G>A	NM_004459.7	NP_004450.3:p.(Thr2251=)	NC_000017.10:g.65936670G>A	(Likely) benign	1 lab	a3c87fe51f
7:107002806 COG5 A>G	7	107002806	107002806	A	G	COG5	c.895T>C	NM_001161520.2	NP_001154992.2:p.(Phe299Leu)	NC_000007.13:g.107002806A>G	(Likely) benign	1 lab	a3c8c54352
X:41200808 DDX3X CGTA>C	X	41200808	41200813	CGTA	C	DDX3X	c.226_228del	NM_001193416.3	NP_001180345.1:p.(Ser76del)	NC_000023.10:g.41200811_41200813del	VUS	1 lab	a3d1710c41
7:44282173 CAMK2B C>A	7	44282173	44282173	C	A	CAMK2B	c.682G>T	NM_001220.5	NP_001211.3:p.(Ala228Ser)	NC_000007.13:g.44282173C>A	VUS	1 lab	a3d447e0c5
3:11070533 SLC6A1 G>A	3	11070533	11070533	G	A	SLC6A1	c.1191G>A	NM_003042.4	NP_003033.3:p.(Gln397=)	NC_000003.11:g.11070533G>A	(Likely) benign	1 lab	a3d4a86276
11:108235917 ATM G>T	11	108235917	108235917	G	T	ATM	c.8959G>T	NM_000051.4	NP_000042.3:p.(Asp2987Tyr)	NC_000011.9:g.108235917G>T	VUS	1 lab	a3d4a9bb09
7:124475422 POT1 A>C	7	124475422	124475422	A	C	POT1	c.1416T>G	NM_015450.3	NP_056265.2:p.(Ser472Arg)	NC_000007.13:g.124475422A>C	VUS	1 lab	a3d6a1b6c3
10:89692915 PTEN AATGAT>A	10	89692915	89692923	AATGAT	A	PTEN	c.403_407del	NM_000314.8	NP_000305.3:p.(Ile135CysfsTer43)	NC_000010.10:g.89692919_89692923del	(Likely) pathogenic	1 lab	a3daed719e
9:141013123 CACNA1B A>G	9	141013123	141013123	A	G	CACNA1B	c.5933A>G	NM_000718.4	NP_000709.1:p.(Gln1978Arg)	NC_000009.11:g.141013123A>G	VUS	1 lab	a3e02b5eee
X:69253298 EDA A>T	X	69253298	69253298	A	T	EDA	c.844A>T	NM_001399.5	NP_001390.1:p.(Lys282Ter)	NC_000023.10:g.69253298A>T	(Likely) pathogenic	1 lab	a3e12530c8
19:11666071 ELOF1 CAAA>C	19	11666071	11666092	CAAA	C	ELOF1	c.-11-30_-11-28del	NM_001363675.2	NP_001350604.1:p.?	NC_000019.9:g.11666090_11666092del	(Likely) benign	1 lab	a3e18336db
12:56088773 ITGA7 C>T	12	56088773	56088773	C	T	ITGA7	c.2016-19G>A	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56088773C>T	(Likely) benign	1 lab	a3e210cd82
2:48033758 MSH6 T>G	2	48033758	48033758	T	G	MSH6	c.3969T>G	NM_000179.3	NP_000170.1:p.(Phe1323Leu)	NC_000002.11:g.48033758T>G	VUS	1 lab	a3ec6fc742
2:5834148 SOX11 C>A	2	5834148	5834148	C	A	SOX11	c.1295C>A	NM_003108.4	NP_003099.1:p.(Ala432Glu)	NC_000002.11:g.5834148C>A	VUS	1 lab	a3ed7a43a7
11:46917842 LRP4 G>A	11	46917842	46917842	G	A	LRP4	c.967C>T	NM_002334.4	NP_002325.2:p.(Arg323Cys)	NC_000011.9:g.46917842G>A	VUS	1 lab	a3f519e163
2:71817349 DYSF C>T	2	71817349	71817349	C	T	DYSF	c.3451C>T	NM_003494.4	NP_003485.1:p.(Arg1151Cys)	NC_000002.11:g.71817349C>T	VUS	1 lab	a3f9783016
2:179435891 TTN C>T	2	179435891	179435891	C	T	TTN	c.67264G>A	NM_133378.4	NP_596869.4:p.(Gly22422Ser)	NC_000002.11:g.179435891C>T	VUS	1 lab	a3f9e76b32
2:48026257 MSH6 AGAGAT>A	2	48026257	48026265	AGAGAT	A	MSH6	c.1139_1143del	NM_000179.3	NP_000170.1:p.(Asp380AlafsTer6)	NC_000002.11:g.48026261_48026265del	(Likely) pathogenic	1 lab	a3fa6b6e73
18:55317676 ATP8B1 C>T	18	55317676	55317676	C	T	ATP8B1	c.3454G>A	NM_001374385.1	NP_001361314.1:p.(Ala1152Thr)	NC_000018.9:g.55317676C>T	(Likely) benign	1 lab	a3ff125174
1:228473905 OBSCN C>A	1	228473905	228473905	C	A	OBSCN	c.9131C>A	NM_052843.4	NP_443075.3:p.(Pro3044His)	NC_000001.10:g.228473905C>A	VUS	1 lab	a400ec07d4
4:126371304 FAT4 T>G	4	126371304	126371304	T	G	FAT4	c.9133T>G	NM_024582.6	NP_078858.4:p.(Ser3045Ala)	NC_000004.11:g.126371304T>G	VUS	1 lab	a4023c1b6a
22:19752506 TBX1 A>G	22	19752506	19752506	A	G	TBX1	c.710A>G	NM_080647.1	NP_542378.1:p.(Tyr237Cys)	NC_000022.10:g.19752506A>G	VUS	1 lab	a40261488d
1:207646898 CR2 T>C	1	207646898	207646898	T	C	CR2	c.1987T>C	NM_001006658.3	NP_001006659.1:p.(Ser663Pro)	NC_000001.10:g.207646898T>C	(Likely) benign	1 lab	a40a1656be
X:135291567 FHL1 G>GA	X	135291567	135291573	G	GA	FHL1	c.860dup	NM_001159702.3	NP_001153174.1:p.(Asn287LysfsTer62)	NC_000023.10:g.135291573dup	VUS	1 lab	a40d52f0b9
12:6978545 TPI1 G>T	12	6978545	6978545	G	T	TPI1	c.448G>T	NM_000365.6	NP_000356.1:p.(Val150Phe)	NC_000012.11:g.6978545G>T	VUS	1 lab	a40fb9976c
3:48629995 COL7A1 T>C	3	48629995	48629995	T	C	COL7A1	c.976+8A>G	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48629995T>C	VUS	1 lab	a412e1a12c
1:19208362 ALDH4A1 T>C	1	19208362	19208362	T	C	ALDH4A1	c.698A>G	NM_003748.4	NP_003739.2:p.(Lys233Arg)	NC_000001.10:g.19208362T>C	VUS	1 lab	a415a1ff09
22:30090806 NF2 A>C	22	30090806	30090806	A	C	NF2	c.*90A>C	NM_181832.3	NP_861970.1:p.?	NC_000022.10:g.30090806A>C	(Likely) benign	1 lab	a418d7b97d
11:62458824 BSCL2 G>A	11	62458824	62458824	G	A	BSCL2	c.933C>T	NM_001122955.4	NP_001116427.1:p.(Ser311=)	NC_000011.9:g.62458824G>A	(Likely) benign	1 lab	a4250b9cef
12:88452707 CEP290 T>C	12	88452707	88452707	T	C	CEP290	c.6736A>G	NM_025114.4	NP_079390.3:p.(Lys2246Glu)	NC_000012.11:g.88452707T>C	VUS	1 lab	a426b1e036
18:29044242 DSG3 T>G	18	29044242	29044242	T	G	DSG3	c.1168T>G	NM_001944.3	NP_001935.2:p.(Phe390Val)	NC_000018.9:g.29044242T>G	VUS	1 lab	a432cf8e7e
2:54849514 SPTBN1 T>A	2	54849514	54849514	T	A	SPTBN1	c.954T>A	NM_003128.3	NP_003119.2:p.(Ile318=)	NC_000002.11:g.54849514T>A	(Likely) benign	1 lab	a4361f4fd3
10:12148244 DHTKD1 G>A	10	12148244	12148244	G	A	DHTKD1	c.1897-1G>A	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12148244G>A	(Likely) pathogenic	1 lab	a4373400f0
3:46009864 FYCO1 C>G	3	46009864	46009864	C	G	FYCO1	c.962G>C	NM_024513.4	NP_078789.2:p.(Gly321Ala)	NC_000003.11:g.46009864C>G	(Likely) benign	1 lab	a439cbaac9
9:131340457 SPTAN1 A>G	9	131340457	131340457	A	G	SPTAN1	c.1154A>G	NM_001130438.3	NP_001123910.1:p.(Asn385Ser)	NC_000009.11:g.131340457A>G	(Likely) benign	1 lab	a43a498953
22:21342388 LZTR1 G>A	22	21342388	21342388	G	A	LZTR1	c.490G>A	NM_006767.4	NP_006758.2:p.(Glu164Lys)	NC_000022.10:g.21342388G>A	VUS	1 lab	a43b6a3123
2:234668879 UGT1A C>CAT	2	234668879	234668894	C	CAT	UGT1A				NC_000002.11:g.234668893_234668894dup	(Likely) pathogenic	1 lab	a43e894ec9
8:141310644 TRAPPC9 G>A	8	141310644	141310644	G	A	TRAPPC9	c.1692C>T	NM_031466.8	NP_113654.5:p.(Asn564=)	NC_000008.10:g.141310644G>A	(Likely) benign	1 lab	a4421edfff
5:78340286 DMGDH A>G	5	78340286	78340286	A	G	DMGDH	c.835T>C	NM_013391.3	NP_037523.2:p.(Ser279Pro)	NC_000005.9:g.78340286A>G	(Likely) benign	1 lab	a44548aacd
6:152652748 SYNE1 C>G	6	152652748	152652748	C	G	SYNE1	c.12859G>C	NM_033071.4	NP_149062.2:p.(Glu4287Gln)	NC_000006.11:g.152652748C>G	VUS	1 lab	a445a4fa96
13:32889607 BRCA2 GCGCGGGCTTGT>G	13	32889607	32889618	GCGCGGGCTTGT	G	BRCA2				NC_000013.10:g.32889608_32889618del	(Likely) pathogenic	1 lab	a44839fbc1
11:6653932 DCHS1 AC>A	11	6653932	6653937	AC	A	DCHS1	c.2810del	NM_003737.4	NP_003728.1:p.(Gly937ValfsTer17)	NC_000011.9:g.6653937del	(Likely) pathogenic	1 lab	a4557e8b8a
2:26438044 HADHA C>T	2	26438044	26438044	C	T	HADHA	c.677G>A	NM_000182.5	NP_000173.2:p.(Gly226Glu)	NC_000002.11:g.26438044C>T	VUS	1 lab	a45cef06ed
18:10677805 PIEZO2 T>TA	18	10677805	10677807	T	TA	PIEZO2	c.7680dup	NM_022068.4	NP_071351.2:p.(Thr2561TyrfsTer7)	NC_000018.9:g.10677807dup	(Likely) pathogenic	1 lab	a45d25f2e3
14:23895022 MYH7 C>T	14	23895022	23895022	C	T	MYH7	c.2168G>A	NM_000257.4	NP_000248.2:p.(Arg723His)	NC_000014.8:g.23895022C>T	(Likely) pathogenic	1 lab	a460fa96ea
12:53039200 KRT2 A>G	12	53039200	53039200	A	G	KRT2	c.1523T>C	NM_000423.3	NP_000414.2:p.(Ile508Thr)	NC_000012.11:g.53039200A>G	VUS	1 lab	a465eeecf8
4:56877703 CEP135 T>G	4	56877703	56877703	T	G	CEP135	c.2616+15T>G	NM_025009.5	NP_079285.2:p.?	NC_000004.11:g.56877703T>G	VUS	1 lab	a46cc1fc79
15:77176200 SCAPER A>T	15	77176200	77176200	A	T	SCAPER	c.-42T>A	NM_020843.4	NP_065894.2:p.?	NC_000015.9:g.77176200A>T	(Likely) benign	1 lab	a46f5cd11b
1:74797171 TNNI3K A>G	1	74797171	74797171	A	G	TNNI3K	c.482A>G	NM_015978.3	NP_057062.1:p.(Asn161Ser)	NC_000001.10:g.74797171A>G	VUS	1 lab	a47e2e6511
1:16451767 EPHA2 G>A	1	16451767	16451767	G	A	EPHA2	c.2874C>T	NM_004431.5	NP_004422.2:p.(Ile958=)	NC_000001.10:g.16451767G>A	(Likely) benign	1 lab	a47f4774ae
13:101881803 NALCN T>C	13	101881803	101881803	T	C	NALCN	c.1567A>G	NM_052867.4	NP_443099.1:p.(Ile523Val)	NC_000013.10:g.101881803T>C	VUS	1 lab	a483e302cb
2:179449471 TTN G>A	2	179449471	179449471	G	A	TTN	c.64897C>T	NM_001267550.2	NP_001254479.2:p.(Arg21633Trp)	NC_000002.11:g.179449471G>A	VUS	1 lab	a48449c2b5
5:150723806 SLC36A2 G>A	5	150723806	150723806	G	A	SLC36A2	c.187C>T	NM_181776.3	NP_861441.2:p.(Leu63=)	NC_000005.9:g.150723806G>A	(Likely) benign	1 lab	a485ba6135
8:61714084 CHD7 T>A	8	61714084	61714084	T	A	CHD7	c.2377-3T>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61714084T>A	(Likely) benign	1 lab	a4869e1224
11:129817139 PRDM10 C>T	11	129817139	129817139	C	T	PRDM10	c.421G>A	NM_020228.3	NP_064613.2:p.(Asp141Asn)	NC_000011.9:g.129817139C>T	VUS	1 lab	a48d2b11e8
5:180056044 FLT4 G>A	5	180056044	180056044	G	A	FLT4	c.986-45C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180056044G>A	(Likely) benign	1 lab	a495e17e3a
14:51095130 ATL1 CGA>C	14	51095130	51095135	CGA	C	ATL1	c.1505_1506del	NM_015915.5	NP_056999.2:p.(Glu502AlafsTer20)	NC_000014.8:g.51095134_51095135del	(Likely) pathogenic	1 lab	a49ce13a89
17:42428728 GRN C>T	17	42428728	42428728	C	T	GRN	c.836-3C>T	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42428728C>T	(Likely) benign	1 lab	a49ef7d1c7
9:98241314 PTCH1 T>C	9	98241314	98241314	T	C	PTCH1	c.1183A>G	NM_000264.5	NP_000255.2:p.(Ile395Val)	NC_000009.11:g.98241314T>C	(Likely) benign	1 lab	a4a0887a7a
13:96242051 DZIP1 A>C	13	96242051	96242051	A	C	DZIP1	c.1973+6T>G	NM_198968.4	NP_945319.1:p.?	NC_000013.10:g.96242051A>C	VUS	1 lab	a4a4d8c45b
11:18317663 HPS5 A>G	11	18317663	18317663	A	G	HPS5	c.1517T>C	NM_181507.2	NP_852608.1:p.(Val506Ala)	NC_000011.9:g.18317663A>G	VUS	1 lab	a4a847c799
5:1394875 SLC6A3 T>TGGAAA	5	1394875	1394881	T	TGGAAA	SLC6A3	c.1840-7_1840-3dup	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1394877_1394881dup	(Likely) benign	1 lab	a4a8cc64e3
19:11170556 SMARCA4 C>T	19	11170556	11170556	C	T	SMARCA4	c.4859C>T	NM_001128849.3	NP_001122321.1:p.(Ser1620Phe)	NC_000019.9:g.11170556C>T	VUS	1 lab	a4ac5c1d39
1:17312850 ATP13A2 C>T	1	17312850	17312850	C	T	ATP13A2	c.3394G>A	NM_001141973.3	NP_001135445.1:p.(Val1132Met)	NC_000001.10:g.17312850C>T	VUS	1 lab	a4b50ad221
1:183099602 LAMC1 G>A	1	183099602	183099602	G	A	LAMC1	c.3404G>A	NM_002293.4	NP_002284.3:p.(Arg1135His)	NC_000001.10:g.183099602G>A	VUS	1 lab	a4b588ab72
X:22051137 PHEX CAG>C	X	22051137	22051139	CAG	C	PHEX	c.15_16del	NM_000444.6	NP_000435.3:p.(Gly6GlufsTer44)	NC_000023.10:g.22051138_22051139del	(Likely) pathogenic	1 lab	a4b641a513
4:174450462 HAND2 C>T	4	174450462	174450462	C	T	HAND2	c.-22G>A	NM_021973.3	NP_068808.1:p.?	NC_000004.11:g.174450462C>T	VUS	1 lab	a4b641b82c
20:57415543 GNAS G>A	20	57415543	57415543	G	A	GNAS	c.382G>A	NM_016592.5	NP_057676.1:p.(Glu128Lys)	NC_000020.10:g.57415543G>A	(Likely) benign	1 lab	a4b666bf73
3:9512345 SETD5 C>G	3	9512345	9512345	C	G	SETD5	c.2927C>G	NM_001080517.3	NP_001073986.1:p.(Ala976Gly)	NC_000003.11:g.9512345C>G	(Likely) benign	1 lab	a4b7470457
1:161326498 SDHC A>G	1	161326498	161326498	A	G	SDHC	c.273A>G	NM_003001.5	NP_002992.1:p.(Leu91=)	NC_000001.10:g.161326498A>G	(Likely) benign	1 lab	a4bb3252a3
12:57883112 MARS1 A>T	12	57883112	57883112	A	T	MARS1	c.263A>T	NM_004990.4	NP_004981.2:p.(Glu88Val)	NC_000012.11:g.57883112A>T	VUS	1 lab	a4d8713de8
X:76891470 ATRX G>T	X	76891470	76891470	G	T	ATRX	c.4635C>A	NM_000489.6	NP_000480.3:p.(Thr1545=)	NC_000023.10:g.76891470G>T	(Likely) benign	1 lab	a4bb9fd76a
6:32818774 TAP1 T>C	6	32818774	32818774	T	C	TAP1	c.997A>G	NM_000593.6	NP_000584.3:p.(Ile333Val)	NC_000006.11:g.32818774T>C	(Likely) benign	1 lab	a4bc46e24c
9:104133628 BAAT C>T	9	104133628	104133628	C	T	BAAT	c.59G>A	NM_001701.4	NP_001692.1:p.(Arg20Gln)	NC_000009.11:g.104133628C>T	(Likely) benign	1 lab	a4beaac4ac
11:6662844 DCHS1 T>A	11	6662844	6662844	T	A	DCHS1	c.1A>T	NM_003737.4	NP_003728.1:p.(Met1?)	NC_000011.9:g.6662844T>A	VUS	1 lab	a4c4245f41
12:52309258 ACVRL1 A>G	12	52309258	52309258	A	G	ACVRL1	c.1022A>G	NM_000020.3	NP_000011.2:p.(Asn341Ser)	NC_000012.11:g.52309258A>G	VUS	1 lab	a4c4a093e1
5:1294244 TERT G>A	5	1294244	1294244	G	A	TERT	c.757C>T	NM_198253.3	NP_937983.2:p.(Gln253Ter)	NC_000005.9:g.1294244G>A	(Likely) pathogenic	1 lab	a4c7d35447
16:1823027 MRPS34 G>A	16	1823027	1823027	G	A	MRPS34	c.94C>T	NM_001300900.2	NP_001287829.1:p.(Gln32Ter)	NC_000016.9:g.1823027G>A	(Likely) pathogenic	1 lab	a4c9ed7c56
5:1255527 TERT C>G	5	1255527	1255527	C	G	TERT	c.3033-1G>C	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1255527C>G	(Likely) pathogenic	1 lab	a4ca024e32
5:224548 SDHA G>A	5	224548	224548	G	A	SDHA	c.224G>A	NM_004168.4	NP_004159.2:p.(Arg75Gln)	NC_000005.9:g.224548G>A	VUS	1 lab	a4cebef8bb
10:43608412 RET G>A	10	43608412	43608412	G	A	RET	c.1759+1G>A	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43608412G>A	(Likely) pathogenic	1 lab	a4cf5172a1
8:42044897 PLAT C>T	8	42044897	42044897	C	T	PLAT	c.539+19G>A	NM_000930.5	NP_000921.1:p.?	NC_000008.10:g.42044897C>T	(Likely) benign	1 lab	a4cfa08930
3:142180817 ATR A>C	3	142180817	142180817	A	C	ATR	c.7157T>G	NM_001184.4	NP_001175.2:p.(Leu2386Trp)	NC_000003.11:g.142180817A>C	VUS	1 lab	a4d33e5232
11:108122561 ATM T>C	11	108122561	108122561	T	C	ATM	c.1608-3T>C	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108122561T>C	(Likely) benign	1 lab	a4d92f6712
18:3079263 MYOM1 G>C	18	3079263	3079263	G	C	MYOM1	c.4562C>G	NM_003803.4	NP_003794.3:p.(Pro1521Arg)	NC_000018.9:g.3079263G>C	VUS	1 lab	a4dd8327cb
17:61497953 TANC2 G>A	17	61497953	61497953	G	A	TANC2	c.4610G>A	NM_025185.4	NP_079461.2:p.(Arg1537Gln)	NC_000017.10:g.61497953G>A	VUS	1 lab	a4e02cdeaa
2:26424067 HADHA A>G	2	26424067	26424067	A	G	HADHA	c.1343T>C	NM_000182.5	NP_000173.2:p.(Val448Ala)	NC_000002.11:g.26424067A>G	VUS	1 lab	a4e430608f
1:181706720 CACNA1E T>C	1	181706720	181706720	T	C	CACNA1E	c.3482T>C	NM_000721.4	NP_000712.2:p.(Leu1161Pro)	NC_000001.10:g.181706720T>C	VUS	1 lab	a4ea03a295
21:47423358 COL6A1 G>A	21	47423358	47423358	G	A	COL6A1	c.2518G>A	NM_001848.3	NP_001839.2:p.(Val840Met)	NC_000021.8:g.47423358G>A	VUS	1 lab	a4ea3abcc8
2:160289519 BAZ2B G>A	2	160289519	160289519	G	A	BAZ2B	c.1643C>T	NM_001289975.1	NP_001276904.1:p.(Pro548Leu)	NC_000002.11:g.160289519G>A	VUS	1 lab	a4ee9dfd48
13:32900691 BRCA2 A>G	13	32900691	32900691	A	G	BRCA2	c.572A>G	NM_000059.4	NP_000050.3:p.(Asp191Gly)	NC_000013.10:g.32900691A>G	VUS	1 lab	a4f4d545d9
19:42777457 CIC C>T	19	42777457	42777457	C	T	CIC	c.1522C>T	NM_001386298.1	NP_001373227.1:p.(Arg508Ter)	NC_000019.9:g.42777457C>T	(Likely) pathogenic	1 lab	a4f7b4a431
15:50838722 USP50 T>A	15	50838722	50838722	T	A	USP50	c.1A>T	NM_203494.5	NP_987090.2:p.(Met1?)	NC_000015.9:g.50838722T>A	VUS	1 lab	a5f3f6c5da
10:73583649 PSAP T>C	10	73583649	73583649	T	C	PSAP	c.782A>G	NM_001042465.3	NP_001035930.1:p.(Asp261Gly)	NC_000010.10:g.73583649T>C	VUS	1 lab	a4fdb5225f
14:91779740 CCDC88C C>T	14	91779740	91779740	C	T	CCDC88C	c.2420G>A	NM_001080414.4	NP_001073883.2:p.(Arg807Gln)	NC_000014.8:g.91779740C>T	(Likely) benign	1 lab	a4fe645310
13:32914084 BRCA2 CAT>C	13	32914084	32914088	CAT	C	BRCA2	c.5595_5596del	NM_000059.4	NP_000050.3:p.(Phe1866TyrfsTer6)	NC_000013.10:g.32914087_32914088del	(Likely) pathogenic	1 lab	a4fe9634e4
1:11172933 MTOR AATCCGT>A	1	11172933	11172939	AATCCGT	A	MTOR	c.7336_7341del	NM_004958.4	NP_004949.1:p.(Thr2446_Asp2447del)	NC_000001.10:g.11172934_11172939del	VUS	1 lab	a5047dfd51
X:135761794 ARHGEF6 C>T	X	135761794	135761794	C	T	ARHGEF6	c.1730G>A	NM_004840.3	NP_004831.1:p.(Arg577Gln)	NC_000023.10:g.135761794C>T	VUS	1 lab	a507a01ff6
10:75620618 CAMK2G T>A	10	75620618	75620618	T	A	CAMK2G	c.190A>T	NM_172171.3	NP_751911.1:p.(Ile64Leu)	NC_000010.10:g.75620618T>A	VUS	1 lab	a5120f8e9d
1:231406725 GNPAT A>AT	1	231406725	231406726	A	AT	GNPAT	c.1502dup	NM_014236.4	NP_055051.1:p.(Met501IlefsTer19)	NC_000001.10:g.231406726dup	(Likely) pathogenic	1 lab	a51292b3f9
19:55525894 GP6 G>A	19	55525894	55525894	G	A	GP6	c.1419C>T	NM_001083899.2	NP_001077368.2:p.(Pro473=)	NC_000019.9:g.55525894G>A	(Likely) benign	1 lab	a517c2c2ea
15:72864578 ARIH1 ATT>A	15	72864578	72864596	ATT	A	ARIH1	c.1215+89_1215+90del	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72864595_72864596del	(Likely) benign	1 lab	a51bbce6c0
11:118625446 DDX6 T>C	11	118625446	118625446	T	C	DDX6	c.1427A>G	NM_004397.6	NP_004388.2:p.(Glu476Gly)	NC_000011.9:g.118625446T>C	(Likely) benign	1 lab	a51c0401e7
1:183209311 LAMC2 C>T	1	183209311	183209311	C	T	LAMC2	c.3206C>T	NM_005562.3	NP_005553.2:p.(Thr1069Met)	NC_000001.10:g.183209311C>T	(Likely) benign	1 lab	a522104ee6
19:18979681 GDF1 G>A	19	18979681	18979681	G	A	GDF1	c.844C>T	NM_001492.6	NP_001483.3:p.(His282Tyr)	NC_000019.9:g.18979681G>A	VUS	1 lab	a52688c385
2:32341268 SPAST C>T	2	32341268	32341268	C	T	SPAST	c.1085C>T	NM_014946.4	NP_055761.2:p.(Ser362Phe)	NC_000002.11:g.32341268C>T	(Likely) pathogenic	1 lab	a52ec59172
14:21785790 RPGRIP1 G>A	14	21785790	21785790	G	A	RPGRIP1	c.1152-65G>A	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21785790G>A	(Likely) benign	1 lab	a53581802f
11:118896012 SLC37A4 A>G	11	118896012	118896012	A	G	SLC37A4	c.1012T>C	NM_001164277.2	NP_001157749.1:p.(Phe338Leu)	NC_000011.9:g.118896012A>G	VUS	1 lab	a53836c82e
X:153296827 MECP2 T>A	X	153296827	153296827	T	A	MECP2	c.452A>T	NM_004992.4	NP_004983.1:p.(Asp151Val)	NC_000023.10:g.153296827T>A	(Likely) pathogenic	1 lab	a5416f424e
9:109691447 ZNF462 G>A	9	109691447	109691447	G	A	ZNF462	c.5254G>A	NM_021224.6	NP_067047.4:p.(Asp1752Asn)	NC_000009.11:g.109691447G>A	VUS	1 lab	a54575c6ce
8:41839376 KAT6A C>T	8	41839376	41839376	C	T	KAT6A	c.806G>A	NM_006766.5	NP_006757.2:p.(Arg269Gln)	NC_000008.10:g.41839376C>T	(Likely) benign	1 lab	a545add7ba
2:39250275 SOS1 A>G	2	39250275	39250275	A	G	SOS1	c.1294T>C	NM_005633.4	NP_005624.2:p.(Trp432Arg)	NC_000002.11:g.39250275A>G	(Likely) pathogenic	1 lab	a546f17b81
19:4839316 PLIN3 C>A	19	4839316	4839316	C	A	PLIN3	c.1193G>T	NM_005817.5	NP_005808.3:p.(Arg398Leu)	NC_000019.9:g.4839316C>A	VUS	1 lab	a5563c436c
10:120934055 PRDX3 C>T	10	120934055	120934055	C	T	PRDX3	c.219G>A	NM_006793.5	NP_006784.1:p.(Lys73=)	NC_000010.10:g.120934055C>T	(Likely) benign	1 lab	a5570681a6
19:50099292 PRR12 C>T	19	50099292	50099292	C	T	PRR12	c.1700C>T	NM_020719.3	NP_065770.1:p.(Pro567Leu)	NC_000019.9:g.50099292C>T	VUS	1 lab	a5583f743b
13:32906541 BRCA2 C>G	13	32906541	32906541	C	G	BRCA2	c.926C>G	NM_000059.4	NP_000050.3:p.(Ser309Ter)	NC_000013.10:g.32906541C>G	(Likely) pathogenic	1 lab	a55ae52899
6:15487553 JARID2 G>A	6	15487553	15487553	G	A	JARID2	c.686G>A	NM_004973.4	NP_004964.2:p.(Ser229Asn)	NC_000006.11:g.15487553G>A	(Likely) benign	1 lab	a55f745f3f
11:58979126 MPEG1 G>T	11	58979126	58979126	G	T	MPEG1	c.1213C>A	NM_001039396.2	NP_001034485.1:p.(Pro405Thr)	NC_000011.9:g.58979126G>T	(Likely) benign	1 lab	a5612d49aa
17:79954550 ASPSCR1 G>A	17	79954550	79954550	G	A	ASPSCR1	c.761G>A	NM_001251888.2	NP_001238817.1:p.(Gly254Asp)	NC_000017.10:g.79954550G>A	VUS	1 lab	a56780d35f
15:62182599 VPS13C C>T	15	62182599	62182599	C	T	VPS13C	c.9106G>A	NM_001018088.3	NP_001018098.1:p.(Asp3036Asn)	NC_000015.9:g.62182599C>T	VUS	1 lab	a569a5abf7
12:2690806 CACNA1C G>A	12	2690806	2690806	G	A	CACNA1C	c.1946G>A	NM_000719.7	NP_000710.5:p.(Arg649His)	NC_000012.11:g.2690806G>A	VUS	1 lab	a56b445b52
11:108203546 ATM A>G	11	108203546	108203546	A	G	ATM	c.7846A>G	NM_000051.4	NP_000042.3:p.(Met2616Val)	NC_000011.9:g.108203546A>G	VUS	1 lab	a56c13df02
9:79910550 VPS13A C>T	9	79910550	79910550	C	T	VPS13A	c.3600C>T	NM_033305.3	NP_150648.2:p.(Leu1200=)	NC_000009.11:g.79910550C>T	(Likely) benign	1 lab	a5729e6379
7:2577941 BRAT1 G>T	7	2577941	2577941	G	T	BRAT1	c.2228C>A	NM_152743.4	NP_689956.2:p.(Pro743His)	NC_000007.13:g.2577941G>T	VUS	1 lab	a57510d662
22:36661940 APOL1 T>A	22	36661940	36661940	T	A	APOL1	c.1058T>A	NM_003661.4	NP_003652.2:p.(Val353Glu)	NC_000022.10:g.36661940T>A	(Likely) benign	1 lab	a5767a9327
17:8022065 ALOXE3 G>A	17	8022065	8022065	G	A	ALOXE3	c.32C>T	NM_001165960.1	NP_001159432.1:p.(Pro11Leu)	NC_000017.10:g.8022065G>A	(Likely) benign	1 lab	a578086f84
18:19102705 GREB1L C>T	18	19102705	19102705	C	T	GREB1L	c.5695C>T	NM_001142966.3	NP_001136438.1:p.(Arg1899Cys)	NC_000018.9:g.19102705C>T	VUS	1 lab	a57810694d
5:36984849 NIPBL C>A	5	36984849	36984849	C	A	NIPBL	c.1567C>A	NM_133433.4	NP_597677.2:p.(Pro523Thr)	NC_000005.9:g.36984849C>A	VUS	1 lab	a578d26509
1:237890478 RYR2 C>T	1	237890478	237890478	C	T	RYR2	c.10817C>T	NM_001035.3	NP_001026.2:p.(Ala3606Val)	NC_000001.10:g.237890478C>T	VUS	1 lab	a57be4d35a
19:11665184 ELOF1 TG>T	19	11665184	11665188	TG	T	ELOF1	c.-18-5del	NM_032377.4	NP_115753.1:p.?	NC_000019.9:g.11665188del	(Likely) benign	1 lab	a5802b9a60
2:39239474 SOS1 T>A	2	39239474	39239474	T	A	SOS1	c.2183A>T	NM_005633.4	NP_005624.2:p.(Lys728Ile)	NC_000002.11:g.39239474T>A	(Likely) pathogenic	1 lab	a583e3b1c8
1:228473992 OBSCN C>T	1	228473992	228473992	C	T	OBSCN	c.9218C>T	NM_052843.4	NP_443075.3:p.(Ser3073Leu)	NC_000001.10:g.228473992C>T	VUS	1 lab	a58759ad6a
13:100634644 ZIC2 C>T	13	100634644	100634644	C	T	ZIC2	c.326C>T	NM_007129.5	NP_009060.2:p.(Ser109Phe)	NC_000013.10:g.100634644C>T	VUS	1 lab	a58f98ac9b
3:38663937 SCN5A C>T	3	38663937	38663937	C	T	SCN5A	c.436G>A	NM_198056.3	NP_932173.1:p.(Val146Met)	NC_000003.11:g.38663937C>T	VUS	1 lab	a59329d4e2
5:177032050 B4GALT7 C>G	5	177032050	177032050	C	G	B4GALT7	c.413+508C>G	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177032050C>G	(Likely) benign	1 lab	a596a18d7e
12:12317440 LRP6 G>GT	12	12317440	12317441	G	GT	LRP6	c.1818dup	NM_002336.3	NP_002327.2:p.(Pro607ThrfsTer13)	NC_000012.11:g.12317441dup	(Likely) pathogenic	1 lab	a596b3b87e
19:12774217 MAN2B1 C>T	19	12774217	12774217	C	T	MAN2B1	c.823G>A	NM_000528.4	NP_000519.2:p.(Asp275Asn)	NC_000019.9:g.12774217C>T	VUS	1 lab	a596f93b8f
12:49426678 KMT2D TGCTGTTGCTGCTGTTGAA>T	12	49426678	49426709	TGCTGTTGCTGCTGTTGAA	T	KMT2D	c.11792_11809del	NM_003482.4	NP_003473.3:p.(Leu3931_Gln3936del)	NC_000012.11:g.49426692_49426709del	VUS	1 lab	a597e3441a
19:50027953 FCGRT C>G	19	50027953	50027953	C	G	FCGRT	c.791C>G	NM_001136019.3	NP_001129491.1:p.(Thr264Arg)	NC_000019.9:g.50027953C>G	(Likely) benign	1 lab	a5a15d78aa
1:27701232 FCN3 G>GTGTT	1	27701232	27701236	G	GTGTT	FCN3	c.74_77dup	NM_003665.4	NP_003656.2:p.(His26GlnfsTer52)	NC_000001.10:g.27701233_27701236dup	(Likely) pathogenic	1 lab	a5a1628d2a
2:179416659 TTN C>G	2	179416659	179416659	C	G	TTN	c.90968G>C	NM_001267550.2	NP_001254479.2:p.(Arg30323Thr)	NC_000002.11:g.179416659C>G	VUS	1 lab	a5a1a9f3ea
1:27106520 ARID1A A>G	1	27106520	27106520	A	G	ARID1A	c.6131A>G	NM_006015.6	NP_006006.3:p.(Asn2044Ser)	NC_000001.10:g.27106520A>G	VUS	1 lab	a5a450b901
18:21441785 LAMA3 G>A	18	21441785	21441785	G	A	LAMA3	c.4584+14G>A	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21441785G>A	(Likely) benign	1 lab	a5aba62cee
10:115405664 NRAP C>T	10	115405664	115405664	C	T	NRAP	c.1030G>A	NM_001261463.2	NP_001248392.1:p.(Ala344Thr)	NC_000010.10:g.115405664C>T	(Likely) benign	1 lab	a5aef9137d
10:33471637 NRP1 A>G	10	33471637	33471637	A	G	NRP1	c.2471T>C	NM_003873.7	NP_003864.5:p.(Ile824Thr)	NC_000010.10:g.33471637A>G	VUS	1 lab	a5b2ed1296
12:116675398 MED13L C>T	12	116675398	116675398	C	T	MED13L	c.185G>A	NM_015335.5	NP_056150.1:p.(Arg62His)	NC_000012.11:g.116675398C>T	VUS	1 lab	a5b36466f3
15:44914962 SPG11 G>A	15	44914962	44914962	G	A	SPG11	c.2280C>T	NM_025137.4	NP_079413.3:p.(Cys760=)	NC_000015.9:g.44914962G>A	(Likely) benign	1 lab	a5b7c57c9a
6:152657993 SYNE1 T>C	6	152657993	152657993	T	C	SYNE1	c.12298A>G	NM_033071.5	NP_149062.2:p.(Met4100Val)	NC_000006.11:g.152657993T>C	VUS	1 lab	a5bcb5d3ab
2:219513514 ZNF142 G>A	2	219513514	219513514	G	A	ZNF142	c.1117C>T	NM_001105537.4	NP_001099007.1:p.(Arg373Cys)	NC_000002.11:g.219513514G>A	VUS	1 lab	a5bd4b81aa
2:179554624 TTN C>CT	2	179554624	179554626	C	CT	TTN	c.31763-2dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554626dup	VUS	1 lab	a5d20db14e
1:234519452 COA6 C>CT	1	234519452	234519461	C	CT	COA6	c.283-8dup	NM_001012985.2	NP_001013003.1:p.?	NC_000001.10:g.234519461dup	(Likely) benign	1 lab	a5d2368f0c
13:111102685 COL4A2 C>G	13	111102685	111102685	C	G	COL4A2	c.1223C>G	NM_001846.4	NP_001837.2:p.(Pro408Arg)	NC_000013.10:g.111102685C>G	(Likely) benign	1 lab	a5d702cd85
5:1210586 SLC6A19 TGGTG>T	5	1210586	1210592	TGGTG	T	SLC6A19	c.374_377del	NM_001003841.3	NP_001003841.1:p.(Val125AspfsTer109)	NC_000005.9:g.1210589_1210592del	(Likely) pathogenic	1 lab	a5d7bfc559
17:17699170 RAI1 G>A	17	17699170	17699170	G	A	RAI1	c.2908G>A	NM_030665.4	NP_109590.3:p.(Ala970Thr)	NC_000017.10:g.17699170G>A	VUS	1 lab	a5d9e37336
9:101544820 ANKS6 C>T	9	101544820	101544820	C	T	ANKS6	c.1148G>A	NM_173551.5	NP_775822.3:p.(Gly383Glu)	NC_000009.11:g.101544820C>T	VUS	1 lab	a5db1e9c38
19:1389324 NDUFS7 ACT>A	19	1389324	1389327	ACT	A	NDUFS7	c.228+389_228+390del	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1389326_1389327del	(Likely) benign	1 lab	a5db1fe855
1:236924334 ACTN2 G>A	1	236924334	236924334	G	A	ACTN2	c.1763G>A	NM_001278344.2	NP_001265273.1:p.(Arg588His)	NC_000001.10:g.236924334G>A	VUS	1 lab	a5dd3c7c44
9:79820261 VPS13A C>A	9	79820261	79820261	C	A	VPS13A	c.220C>A	NM_033305.3	NP_150648.2:p.(Leu74Ile)	NC_000009.11:g.79820261C>A	VUS	1 lab	a5dfeae572
18:32398204 DTNA C>A	18	32398204	32398204	C	A	DTNA	c.786C>A	NM_001390.4	NP_001381.2:p.(His262Gln)	NC_000018.9:g.32398204C>A	VUS	1 lab	a5e460aefd
3:4669483 ITPR1 C>T	3	4669483	4669483	C	T	ITPR1	c.200C>T	NM_001168272.2	NP_001161744.1:p.(Ser67Phe)	NC_000003.11:g.4669483C>T	VUS	1 lab	a5ed4fac11
1:247597399 NLRP3 A>G	1	247597399	247597399	A	G	NLRP3	c.2328-6A>G	NM_004895.5	NP_004886.3:p.?	NC_000001.10:g.247597399A>G	(Likely) benign	1 lab	a5f036c510
17:72277879 DNAI2 A>G	17	72277879	72277879	A	G	DNAI2	c.-11-67A>G	NM_023036.6	NP_075462.3:p.?	NC_000017.10:g.72277879A>G	(Likely) benign	1 lab	a5f094245c
22:40082177 CACNA1I C>A	22	40082177	40082177	C	A	CACNA1I	c.6439C>A	NM_021096.4	NP_066919.2:p.(Leu2147Ile)	NC_000022.10:g.40082177C>A	VUS	1 lab	a5f14a728a
1:16353874 CLCNKA C>T	1	16353874	16353874	C	T	CLCNKA	c.725C>T	NM_004070.4	NP_004061.3:p.(Ala242Val)	NC_000001.10:g.16353874C>T	VUS	1 lab	a5f6767c1c
15:85383151 ALPK3 G>C	15	85383151	85383151	G	C	ALPK3	c.641G>C	NM_020778.5	NP_065829.4:p.(Arg214Pro)	NC_000015.9:g.85383151G>C	VUS	1 lab	a5f85d9363
1:154569393 ADAR C>A	1	154569393	154569393	C	A	ADAR	c.1273G>T	NM_001193495.2	NP_001180424.1:p.(Val425Leu)	NC_000001.10:g.154569393C>A	VUS	1 lab	a5faab8b66
7:56088908 PSPH C>T	7	56088908	56088908	C	T	PSPH	c.-3G>A	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56088908C>T	(Likely) benign	1 lab	a60257b295
1:182356399 GLUL A>G	1	182356399	182356399	A	G	GLUL	c.195T>C	NM_002065.7	NP_002056.2:p.(Ser65=)	NC_000001.10:g.182356399A>G	(Likely) benign	1 lab	a61234a75e
11:66466506 SPTBN2 C>T	11	66466506	66466506	C	T	SPTBN2	c.3824G>A	NM_006946.4	NP_008877.2:p.(Arg1275Gln)	NC_000011.9:g.66466506C>T	VUS	1 lab	a615d6b82d
13:35747688 NBEA C>T	13	35747688	35747688	C	T	NBEA	c.4511C>T	NM_015678.5	NP_056493.3:p.(Pro1504Leu)	NC_000013.10:g.35747688C>T	(Likely) benign	1 lab	a617cd93ba
9:32986015 APTX T>C	9	32986015	32986015	T	C	APTX	c.497A>G	NM_175073.3	NP_778243.1:p.(His166Arg)	NC_000009.11:g.32986015T>C	VUS	1 lab	a61d6250c2
2:74274752 TET3 C>T	2	74274752	74274752	C	T	TET3	c.1708C>T	NM_001287491.2	NP_001274420.1:p.(Leu570Phe)	NC_000002.11:g.74274752C>T	VUS	1 lab	a61fb06b78
11:74168313 KCNE3 C>T	11	74168313	74168313	C	T	KCNE3	c.296G>A	NM_005472.5	NP_005463.1:p.(Arg99His)	NC_000011.9:g.74168313C>T	VUS	1 lab	a62ca12983
6:51824680 PKHD1 G>GT	6	51824680	51824681	G	GT	PKHD1	c.5895dup	NM_138694.4	NP_619639.3:p.(Leu1966ThrfsTer4)	NC_000006.11:g.51824681dup	(Likely) pathogenic	1 lab	a63004b7d5
18:7038783 LAMA1 C>CCCG	18	7038783	7038790	C	CCCG	LAMA1	c.1563+23_1563+25dup	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7038788_7038790dup	(Likely) benign	1 lab	a631f98fa4
19:50918201 POLD1 G>A	19	50918201	50918201	G	A	POLD1	c.2518G>A	NM_001256849.1	NP_001243778.1:p.(Val840Met)	NC_000019.9:g.50918201G>A	VUS	1 lab	a6392789ed
18:12329773 AFG3L2 G>C	18	12329773	12329773	G	C	AFG3L2	c.2185C>G	NM_006796.3	NP_006787.2:p.(Leu729Val)	NC_000018.9:g.12329773G>C	VUS	1 lab	a63a885e69
19:49714297 TRPM4 G>T	19	49714297	49714297	G	T	TRPM4	c.3487G>T	NM_017636.4	NP_060106.2:p.(Gly1163Ter)	NC_000019.9:g.49714297G>T	VUS	1 lab	a63cc912a0
4:69682133 UGT2B10 T>G	4	69682133	69682133	T	G	UGT2B10	c.396T>G	NM_001075.6	NP_001066.1:p.(Asn132Lys)	NC_000004.11:g.69682133T>G	VUS	1 lab	a63ce5fac6
1:152281939 FLG T>G	1	152281939	152281939	T	G	FLG	c.5423A>C	NM_002016.2	NP_002007.1:p.(Glu1808Ala)	NC_000001.10:g.152281939T>G	VUS	1 lab	a63ceb81ab
2:179640142 TTN A>G	2	179640142	179640142	A	G	TTN	c.6449T>C	NM_001267550.2	NP_001254479.2:p.(Met2150Thr)	NC_000002.11:g.179640142A>G	VUS	1 lab	a63cfcab62
11:66469143 SPTBN2 C>A	11	66469143	66469143	C	A	SPTBN2	c.2728G>T	NM_006946.4	NP_008877.2:p.(Ala910Ser)	NC_000011.9:g.66469143C>A	VUS	1 lab	a641a36923
2:100199351 AFF3 C>T	2	100199351	100199351	C	T	AFF3	c.2702G>A	NM_002285.3	NP_002276.2:p.(Arg901Gln)	NC_000002.11:g.100199351C>T	(Likely) benign	1 lab	a645ecc498
X:1407412 CSF2RA C>G	X	1407412	1407412	C	G	CSF2RA	c.220C>G	NM_006140.6	NP_006131.2:p.(Leu74Val)	NC_000023.10:g.1407412C>G	VUS	1 lab	a648b27591
8:6357438 MCPH1 C>A	8	6357438	6357438	C	A	MCPH1	c.2202C>A	NM_024596.5	NP_078872.3:p.(Phe734Leu)	NC_000008.10:g.6357438C>A	VUS	1 lab	a64aabaac1
5:156022059 SGCD T>C	5	156022059	156022059	T	C	SGCD	c.500T>C	NM_000337.6	NP_000328.2:p.(Leu167Ser)	NC_000005.9:g.156022059T>C	VUS	1 lab	a64c502d10
15:48726806 FBN1 T>C	15	48726806	48726806	T	C	FBN1	c.6601A>G	NM_000138.5	NP_000129.3:p.(Met2201Val)	NC_000015.9:g.48726806T>C	VUS	1 lab	a6533bd536
11:134130962 ACAD8 C>T	11	134130962	134130962	C	T	ACAD8	c.730C>T	NM_014384.3	NP_055199.1:p.(Arg244Ter)	NC_000011.9:g.134130962C>T	(Likely) pathogenic	1 lab	a656b18361
19:10395683 ICAM1 A>G	19	10395683	10395683	A	G	ICAM1	c.1405A>G	NM_000201.3	NP_000192.2:p.(Lys469Glu)	NC_000019.9:g.10395683A>G	(Likely) benign	1 lab	a662a5850f
3:10115044 FANCD2 A>C	3	10115044	10115044	A	C	FANCD2	c.2713A>C	NM_033084.6	NP_149075.2:p.(Lys905Gln)	NC_000003.11:g.10115044A>C	VUS	1 lab	a663a3849e
2:206590806 NRP2 G>C	2	206590806	206590806	G	C	NRP2	c.990G>C	NM_201266.2	NP_957718.1:p.(Gln330His)	NC_000002.11:g.206590806G>C	VUS	1 lab	a6669d73c2
7:111846190 DOCK4 AC>A	7	111846190	111846191	AC	A	DOCK4	c.3del	NM_014705.4	NP_055520.3:p.(Met1?)	NC_000007.13:g.111846191del	VUS	1 lab	a668b3fb3d
13:48877852 RB1 G>A	13	48877852	48877852	G	A	RB1				NC_000013.10:g.48877852G>A	(Likely) pathogenic	1 lab	a6692bab11
1:17312473 ATP13A2 T>G	1	17312473	17312473	T	G	ATP13A2	c.*243A>C	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17312473T>G	(Likely) benign	1 lab	a66b28e573
16:88800935 PIEZO1 A>C	16	88800935	88800935	A	C	PIEZO1	c.2009T>G	NM_001142864.4	NP_001136336.2:p.(Leu670Arg)	NC_000016.9:g.88800935A>C	VUS	1 lab	a66b7517b4
22:29446427 ZNRF3 G>A	22	29446427	29446427	G	A	ZNRF3	c.2258G>A	NM_001206998.2	NP_001193927.1:p.(Gly753Glu)	NC_000022.10:g.29446427G>A	VUS	1 lab	a66ccfdc11
15:89876827 POLG T>TTGCTGCTGCTGCTGCTGCTGC	15	89876827	89876860	T	TTGCTGCTGCTGCTGCTGCTGC	POLG	c.138_158dup	NM_002693.3	NP_002684.1:p.(Gln49_Gln55dup)	NC_000015.9:g.89876840_89876860dup	(Likely) benign	1 lab	a66dc87303
6:32784620 HLA-DOB C>T	6	32784620	32784620	C	T	HLA-DOB	c.91+18G>A	NM_002120.4	NP_002111.1:p.?	NC_000006.11:g.32784620C>T	(Likely) benign	1 lab	a677a8235e
16:56377842 GNAO1 C>T	16	56377842	56377842	C	T	GNAO1	c.1045C>T	NM_138736.3	NP_620073.2:p.(Arg349Trp)	NC_000016.9:g.56377842C>T	(Likely) benign	1 lab	a67897d668
2:84881862 DNAH6 T>C	2	84881862	84881862	T	C	DNAH6	c.5713T>C	NM_001370.2	NP_001361.1:p.(Trp1905Arg)	NC_000002.11:g.84881862T>C	VUS	1 lab	a67dfed621
12:52200219 SCN8A C>T	12	52200219	52200219	C	T	SCN8A	c.4949C>T	NM_014191.4	NP_055006.1:p.(Ala1650Val)	NC_000012.11:g.52200219C>T	(Likely) pathogenic	1 lab	a67e32b9ad
11:2187718 TH A>C	11	2187718	2187718	A	C	TH	c.1132T>G	NM_199292.3	NP_954986.2:p.(Phe378Val)	NC_000011.9:g.2187718A>C	VUS	1 lab	a67fed3cca
10:112541544 RBM20 C>G	10	112541544	112541544	C	G	RBM20	c.1177C>G	NM_001134363.3	NP_001127835.2:p.(Pro393Ala)	NC_000010.10:g.112541544C>G	VUS	1 lab	a68141c1e0
2:179440353 TTN C>A	2	179440353	179440353	C	A	TTN	c.70506G>T	NM_001267550.2	NP_001254479.2:p.(Gly23502=)	NC_000002.11:g.179440353C>A	(Likely) benign	1 lab	a681865e71
X:12940257 TLR8 T>A	X	12940257	12940257	T	A	TLR8	c.3098T>A	NM_138636.5	NP_619542.1:p.(Met1033Lys)	NC_000023.10:g.12940257T>A	(Likely) benign	1 lab	a682c7ab8b
22:40037029 CACNA1I G>A	22	40037029	40037029	G	A	CACNA1I	c.898G>A	NM_021096.4	NP_066919.2:p.(Val300Ile)	NC_000022.10:g.40037029G>A	(Likely) benign	1 lab	a683b0e38d
1:39796862 MACF1 TTTTTTTTTTTA>T	1	39796862	39796873	TTTTTTTTTTTA	T	MACF1	c.4629+3838_4629+3848del	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39796863_39796873del	(Likely) benign	1 lab	a68e16a207
2:85598586 ELMOD3 G>A	2	85598586	85598586	G	A	ELMOD3	c.508G>A	NM_001135022.2	NP_001128494.1:p.(Val170Met)	NC_000002.11:g.85598586G>A	VUS	1 lab	a6909b5d29
19:7293898 INSR G>C	19	7293898	7293898	G	C	INSR	c.5C>G	NM_000208.4	NP_000199.2:p.(Ala2Gly)	NC_000019.9:g.7293898G>C	(Likely) benign	1 lab	a690ec788e
3:51308399 DOCK3 A>G	3	51308399	51308399	A	G	DOCK3	c.2509A>G	NM_004947.5	NP_004938.1:p.(Ile837Val)	NC_000003.11:g.51308399A>G	VUS	1 lab	a6917b1b71
8:100479660 VPS13B C>T	8	100479660	100479660	C	T	VPS13B	c.3464C>T	NM_017890.5	NP_060360.3:p.(Thr1155Met)	NC_000008.10:g.100479660C>T	VUS	1 lab	a692f6f3d8
14:99641913 BCL11B C>CG	14	99641913	99641918	C	CG	BCL11B	c.1259dup	NM_138576.4	NP_612808.1:p.(Gln421AlafsTer96)	NC_000014.8:g.99641918dup	(Likely) pathogenic	1 lab	a6978f0deb
1:100353675 AGL G>A	1	100353675	100353675	G	A	AGL	c.2812+11G>A	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100353675G>A	(Likely) benign	1 lab	a698c7e1c4
5:38933482 OSMR C>T	5	38933482	38933482	C	T	OSMR	c.2876C>T	NM_003999.3	NP_003990.1:p.(Pro959Leu)	NC_000005.9:g.38933482C>T	VUS	1 lab	a69b4627d9
15:85407695 ALPK3 T>C	15	85407695	85407695	T	C	ALPK3	c.4522T>C	NM_020778.5	NP_065829.4:p.(Tyr1508His)	NC_000015.9:g.85407695T>C	VUS	1 lab	a6a2f2a891
3:49139105 QARS1 G>A	3	49139105	49139105	G	A	QARS1	c.737C>T	NM_005051.3	NP_005042.1:p.(Thr246Ile)	NC_000003.11:g.49139105G>A	VUS	1 lab	a6a323c706
11:22301090 ANO5 C>G	11	22301090	22301090	C	G	ANO5	c.2521C>G	NM_213599.3	NP_998764.1:p.(His841Asp)	NC_000011.9:g.22301090C>G	VUS	1 lab	a6abb7ee15
14:99640978 BCL11B G>A	14	99640978	99640978	G	A	BCL11B	c.2195C>T	NM_138576.4	NP_612808.1:p.(Ala732Val)	NC_000014.8:g.99640978G>A	VUS	1 lab	a6aec7d03c
7:128484787 FLNC G>T	7	128484787	128484787	G	T	FLNC	c.3268G>T	NM_001458.5	NP_001449.3:p.(Ala1090Ser)	NC_000007.13:g.128484787G>T	VUS	1 lab	a6af4d9a57
22:19344558 HIRA C>T	22	19344558	19344558	C	T	HIRA	c.2251G>A	NM_003325.4	NP_003316.3:p.(Ala751Thr)	NC_000022.10:g.19344558C>T	VUS	1 lab	a6b679693d
19:11097188 SMARCA4 G>A	19	11097188	11097188	G	A	SMARCA4	c.679G>A	NM_001128844.3	NP_001122316.1:p.(Ala227Thr)	NC_000019.9:g.11097188G>A	VUS	1 lab	a6b71f6331
8:6312686 MCPH1 G>T	8	6312686	6312686	G	T	MCPH1	c.1848G>T	NM_024596.5	NP_078872.3:p.(Arg616Ser)	NC_000008.10:g.6312686G>T	VUS	1 lab	a6b8f1f2ad
2:25457243 DNMT3A GGCTC>G	2	25457243	25457247	GGCTC	G	DNMT3A	c.2640_2643del	NM_175629.2	NP_783328.1:p.(Met880IlefsTer25)	NC_000002.11:g.25457244_25457247del	(Likely) pathogenic	1 lab	a6bf7b8893
10:75519846 SEC24C G>GGGCCAGGCTCCTCCCCTT	10	75519846	75519864	G	GGGCCAGGCTCCTCCCCTT	SEC24C	c.553_570dup	NM_004922.4	NP_004913.2:p.(Gly185_Leu190dup)	NC_000010.10:g.75519847_75519864dup	VUS	1 lab	a6c00b7914
17:41246703 BRCA1 G>T	17	41246703	41246703	G	T	BRCA1	c.845C>A	NM_007294.4	NP_009225.1:p.(Ser282Ter)	NC_000017.10:g.41246703G>T	(Likely) pathogenic	1 lab	a6c153dddd
5:153855367 HAND1 C>T	5	153855367	153855367	C	T	HAND1	c.647G>A	NM_004821.3	NP_004812.1:p.(Ter216=)	NC_000005.9:g.153855367C>T	(Likely) benign	1 lab	a6c7dbaaff
7:27135186 HOXA1 C>T	7	27135186	27135186	C	T	HOXA1	c.346G>A	NM_005522.5	NP_005513.2:p.(Glu116Lys)	NC_000007.13:g.27135186C>T	VUS	1 lab	a6c98aa1f8
X:132795880 GPC3 TGTAA>T	X	132795880	132795884	TGTAA	T	GPC3	c.1293-6_1293-3del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132795881_132795884del	(Likely) pathogenic	1 lab	a6c9d1dc7d
3:38049301 PLCD1 G>A	3	38049301	38049301	G	A	PLCD1	c.2297C>T	NM_001130964.2	NP_001124436.1:p.(Ser766Leu)	NC_000003.11:g.38049301G>A	VUS	1 lab	a6cc252d0d
11:108200961 ATM G>A	11	108200961	108200961	G	A	ATM	c.7328G>A	NM_000051.4	NP_000042.3:p.(Arg2443Gln)	NC_000011.9:g.108200961G>A	VUS	1 lab	a6d6fcfc04
17:61498019 TANC2 G>A	17	61498019	61498019	G	A	TANC2	c.4676G>A	NM_025185.4	NP_079461.2:p.(Gly1559Asp)	NC_000017.10:g.61498019G>A	VUS	1 lab	a6d811f90a
X:69595981 KIF4A G>A	X	69595981	69595981	G	A	KIF4A	c.1955G>A	NM_012310.5	NP_036442.3:p.(Arg652His)	NC_000023.10:g.69595981G>A	VUS	1 lab	a6dd8c4318
16:1962141 HS3ST6 G>A	16	1962141	1962141	G	A	HS3ST6	c.479C>T	NM_001009606.4	NP_001009606.3:p.(Thr160Met)	NC_000016.9:g.1962141G>A	(Likely) benign	1 lab	a6ddbed027
17:42964076 EFTUD2 C>T	17	42964076	42964076	C	T	EFTUD2	c.148G>A	NM_004247.4	NP_004238.3:p.(Asp50Asn)	NC_000017.10:g.42964076C>T	(Likely) benign	1 lab	a6defa06d2
2:47641559 MSH2 TAAAAAAAAAAAAAA>T	2	47641559	47641586	TAAAAAAAAAAAAAA	T	MSH2	c.942+16_942+29del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641573_47641586del	(Likely) benign	1 lab	a6e1a23287
1:39908572 MACF1 A>G	1	39908572	39908572	A	G	MACF1	c.13114A>G	NM_012090.5	NP_036222.3:p.(Thr4372Ala)	NC_000001.10:g.39908572A>G	VUS	1 lab	a6e269faca
12:12317229 LRP6 T>TA	12	12317229	12317232	T	TA	LRP6	c.2029dup	NM_002336.3	NP_002327.2:p.(Tyr677LeufsTer4)	NC_000012.11:g.12317232dup	(Likely) pathogenic	1 lab	a6e2cc0575
10:89692890 PTEN A>C	10	89692890	89692890	A	C	PTEN	c.374A>C	NM_000314.8	NP_000305.3:p.(Lys125Thr)	NC_000010.10:g.89692890A>C	(Likely) pathogenic	1 lab	a6e5c1a5cf
6:33409029 SYNGAP1 T>C	6	33409029	33409029	T	C	SYNGAP1	c.1993T>C	NM_006772.3	NP_006763.2:p.(Tyr665His)	NC_000006.11:g.33409029T>C	VUS	1 lab	a6e8fdbfde
12:57590869 LRP1 T>C	12	57590869	57590869	T	C	LRP1	c.8997T>C	NM_002332.3	NP_002323.2:p.(Thr2999=)	NC_000012.11:g.57590869T>C	(Likely) benign	1 lab	a6ed7a5533
18:28605715 DSC3 A>T	18	28605715	28605715	A	T	DSC3	c.630+11T>A	NM_024423.4	NP_077741.2:p.?	NC_000018.9:g.28605715A>T	(Likely) benign	1 lab	a6f0146b97
16:1779569 MAPK8IP3 CCGGGGCGGAGGTACGCGGGGCGCGGCGGGGTGGAGGTACGCGGGGCGCGG>C	16	1779569	1779635	CCGGGGCGGAGGTACGCGGGGCGCGGCGGGGTGGAGGTACGCGGGGCGCGG	C	MAPK8IP3	c.602+7_602+56del	NM_001040439.2	NP_001035529.1:p.?	NC_000016.9:g.1779586_1779635del	(Likely) benign	1 lab	a6f31bd157
9:94495533 ROR2 T>C	9	94495533	94495533	T	C	ROR2	c.808A>G	NM_004560.4	NP_004551.2:p.(Ile270Val)	NC_000009.11:g.94495533T>C	VUS	1 lab	a6f3cca872
1:161192845 APOA2 C>CCACACA	1	161192845	161192884	C	CCACACA	APOA2	c.53-11_53-6dup	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192879_161192884dup	(Likely) benign	1 lab	a6f48a35ae
15:93489450 CHD2 T>C	15	93489450	93489450	T	C	CHD2	c.1377+4T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93489450T>C	(Likely) benign	1 lab	a6f7c8392b
9:118032 FOXD4 G>A	9	118032	118032	G	A	FOXD4	c.88C>T	NM_207305.5	NP_997188.2:p.(Leu30=)	NC_000009.11:g.118032G>A	(Likely) benign	1 lab	a6fa709db6
X:129148372 BCORL1 G>A	X	129148372	129148372	G	A	BCORL1	c.1624G>A	NM_021946.5	NP_068765.3:p.(Asp542Asn)	NC_000023.10:g.129148372G>A	VUS	1 lab	a6fe79e2b4
1:208212185 PLXNA2 C>T	1	208212185	208212185	C	T	PLXNA2	c.4645G>A	NM_025179.4	NP_079455.3:p.(Val1549Met)	NC_000001.10:g.208212185C>T	VUS	1 lab	a711f3a9ee
10:91294401 SLC16A12 CA>C	10	91294401	91294428	CA	C	SLC16A12	c.-186-5del	NM_213606.4	NP_998771.3:p.?	NC_000010.10:g.91294428del	(Likely) benign	1 lab	a713ccd761
17:78319795 RNF213 G>A	17	78319795	78319795	G	A	RNF213	c.7660G>A	NM_001256071.3	NP_001243000.2:p.(Asp2554Asn)	NC_000017.10:g.78319795G>A	VUS	1 lab	a71c4ccb57
17:4927215 KIF1C C>A	17	4927215	4927215	C	A	KIF1C	c.3081C>A	NM_006612.6	NP_006603.2:p.(His1027Gln)	NC_000017.10:g.4927215C>A	VUS	1 lab	a71d211617
3:138665100 FOXL2 C>A	3	138665100	138665100	C	A	FOXL2	c.465G>T	NM_023067.4	NP_075555.1:p.(Pro155=)	NC_000003.11:g.138665100C>A	VUS	1 lab	a71f256b32
19:16601332 CALR3 G>A	19	16601332	16601332	G	A	CALR3	c.243C>T	NM_145046.5	NP_659483.2:p.(Phe81=)	NC_000019.9:g.16601332G>A	(Likely) benign	1 lab	a722a61667
2:74300674 TET3 A>G	2	74300674	74300674	A	G	TET3	c.2495-2A>G	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74300674A>G	(Likely) pathogenic	1 lab	a724d68bf5
1:152086555 TCHH AT>A	1	152086555	152086564	AT	A	TCHH	c.1del	NM_007113.4	NP_009044.2:p.(Met1?)	NC_000001.10:g.152086564del	(Likely) benign	1 lab	a726486053
2:227661663 IRS1 GC>G	2	227661663	227661671	GC	G	IRS1	c.1791del	NM_005544.3	NP_005535.1:p.(His598ThrfsTer38)	NC_000002.11:g.227661671del	VUS	1 lab	a727909930
7:56087283 PSPH T>C	7	56087283	56087283	T	C	PSPH	c.275+10A>G	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56087283T>C	(Likely) benign	1 lab	a7315df4ea
16:28855727 TUFM A>G	16	28855727	28855727	A	G	TUFM	c.817+13T>C	NM_003321.5	NP_003312.3:p.?	NC_000016.9:g.28855727A>G	(Likely) benign	1 lab	a7345ecc65
5:147480027 SPINK5 G>A	5	147480027	147480027	G	A	SPINK5	c.1103G>A	NM_001127698.2	NP_001121170.1:p.(Ser368Asn)	NC_000005.9:g.147480027G>A	(Likely) benign	1 lab	a73485b726
9:95013009 IARS1 C>G	9	95013009	95013009	C	G	IARS1	c.2415G>C	NM_002161.6	NP_002152.2:p.(Met805Ile)	NC_000009.11:g.95013009C>G	VUS	1 lab	a73b42aa82
1:74905291 TNNI3K G>A	1	74905291	74905291	G	A	TNNI3K	c.1996G>A	NM_015978.3	NP_057062.1:p.(Ala666Thr)	NC_000001.10:g.74905291G>A	(Likely) benign	1 lab	a73b6be2f0
12:122826153 CLIP1 A>G	12	122826153	122826153	A	G	CLIP1	c.1565T>C	NM_002956.3	NP_002947.1:p.(Leu522Pro)	NC_000012.11:g.122826153A>G	VUS	1 lab	a73ea70518
7:56088812 PSPH C>T	7	56088812	56088812	C	T	PSPH	c.94G>A	NM_004577.4	NP_004568.2:p.(Asp32Asn)	NC_000007.13:g.56088812C>T	(Likely) pathogenic	1 lab	a73f923e64
13:96237095 DZIP1 A>G	13	96237095	96237095	A	G	DZIP1	c.2419T>C	NM_198968.4	NP_945319.1:p.(Ser807Pro)	NC_000013.10:g.96237095A>G	VUS	1 lab	a7425227e7
1:226019507 EPHX1 C>T	1	226019507	226019507	C	T	EPHX1	c.211C>T	NM_000120.4	NP_000111.1:p.(Arg71Cys)	NC_000001.10:g.226019507C>T	VUS	1 lab	a749469d63
2:179528582 TTN C>G	2	179528582	179528582	C	G	TTN	c.36412G>C	NM_001267550.2	NP_001254479.2:p.(Ala12138Pro)	NC_000002.11:g.179528582C>G	(Likely) benign	1 lab	a74c5f93b6
10:50678519 ERCC6 C>G	10	50678519	50678519	C	G	ERCC6	c.3487G>C	NM_000124.4	NP_000115.1:p.(Ala1163Pro)	NC_000010.10:g.50678519C>G	VUS	1 lab	a752afb81c
19:36213294 KMT2B G>A	19	36213294	36213294	G	A	KMT2B	c.2491G>A	NM_014727.3	NP_055542.1:p.(Gly831Arg)	NC_000019.9:g.36213294G>A	VUS	1 lab	a7545236c6
14:67589045 GPHN A>G	14	67589045	67589045	A	G	GPHN	c.1699A>G	NM_020806.5	NP_065857.1:p.(Ile567Val)	NC_000014.8:g.67589045A>G	VUS	1 lab	a75ac1342d
8:144998179 PLEC C>T	8	144998179	144998179	C	T	PLEC	c.5999G>A	NM_000445.5	NP_000436.2:p.(Arg2000Gln)	NC_000008.10:g.144998179C>T	VUS	1 lab	a75acb8220
12:53045600 KRT2 A>T	12	53045600	53045600	A	T	KRT2	c.327T>A	NM_000423.3	NP_000414.2:p.(Ser109Arg)	NC_000012.11:g.53045600A>T	VUS	1 lab	a75bf6c410
X:70617122 TAF1 C>T	X	70617122	70617122	C	T	TAF1	c.3426C>T	NM_004606.5	NP_004597.3:p.(Ser1142=)	NC_000023.10:g.70617122C>T	(Likely) benign	1 lab	a75da8e63d
5:1201882 SLC6A19 G>A	5	1201882	1201882	G	A	SLC6A19	c.117G>A	NM_001003841.3	NP_001003841.1:p.(Ala39=)	NC_000005.9:g.1201882G>A	(Likely) benign	1 lab	a75fb3fb14
10:112583316 RBM20 T>G	10	112583316	112583316	T	G	RBM20	c.3395T>G	NM_001134363.3	NP_001127835.2:p.(Leu1132Arg)	NC_000010.10:g.112583316T>G	VUS	1 lab	a761c5c7ad
7:103138517 RELN C>G	7	103138517	103138517	C	G	RELN	c.8843+7G>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103138517C>G	(Likely) benign	1 lab	a763636e6d
19:42796862 CIC C>T	19	42796862	42796862	C	T	CIC	c.3320C>T	NM_015125.5	NP_055940.3:p.(Pro1107Leu)	NC_000019.9:g.42796862C>T	(Likely) benign	1 lab	a764fe8d3c
13:110850918 COL4A1 C>T	13	110850918	110850918	C	T	COL4A1	c.1181G>A	NM_001845.6	NP_001836.3:p.(Gly394Asp)	NC_000013.10:g.110850918C>T	VUS	1 lab	a7695fb104
15:56393647 RFX7 C>T	15	56393647	56393647	C	T	RFX7	c.721G>A	NM_022841.7	NP_073752.6:p.(Val241Ile)	NC_000015.9:g.56393647C>T	(Likely) benign	1 lab	a76d24f394
11:70666541 SHANK2 C>T	11	70666541	70666541	C	T	SHANK2	c.1421G>A	NM_012309.5	NP_036441.2:p.(Arg474Gln)	NC_000011.9:g.70666541C>T	VUS	1 lab	a76ee25f1d
13:26974644 CDK8 A>G	13	26974644	26974644	A	G	CDK8	c.988A>G	NM_001260.3	NP_001251.1:p.(Met330Val)	NC_000013.10:g.26974644A>G	VUS	1 lab	a76f81c766
5:178413933 GRM6 C>T	5	178413933	178413933	C	T	GRM6	c.1406G>A	NM_000843.4	NP_000834.2:p.(Arg469Gln)	NC_000005.9:g.178413933C>T	VUS	1 lab	a772b84796
Y:2655331 SRY TC>T	Y	2655331	2655332	TC	T	SRY	c.313del	NM_003140.3	NP_003131.1:p.(Glu105LysfsTer76)	NC_000024.9:g.2655332del	(Likely) pathogenic	1 lab	a77b0bd9a4
9:131019405 GOLGA2 A>G	9	131019405	131019405	A	G	GOLGA2	c.2914T>C	NM_004486.5	NP_004477.4:p.(Cys972Arg)	NC_000009.11:g.131019405A>G	VUS	1 lab	a7833674d3
16:69364443 PDF A>G	16	69364443	69364443	A	G	PDF	c.31T>C	NM_022341.2	NP_071736.1:p.(Trp11Arg)	NC_000016.9:g.69364443A>G	(Likely) benign	1 lab	a784514ff2
X:153135749 L1CAM A>C	X	153135749	153135749	A	C	L1CAM	c.807-54T>G	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153135749A>C	(Likely) benign	1 lab	a7852ddb74
14:50611892 SOS2 A>G	14	50611892	50611892	A	G	SOS2	c.2663T>C	NM_006939.4	NP_008870.2:p.(Phe888Ser)	NC_000014.8:g.50611892A>G	VUS	1 lab	a7866f2cb9
13:32914137 BRCA2 C>CA	13	32914137	32914142	C	CA	BRCA2	c.5650dup	NM_000059.4	NP_000050.3:p.(Ile1884AsnfsTer16)	NC_000013.10:g.32914142dup	(Likely) pathogenic	1 lab	a786dfd77b
19:12924010 RNASEH2A G>A	19	12924010	12924010	G	A	RNASEH2A	c.751G>A	NM_006397.3	NP_006388.2:p.(Asp251Asn)	NC_000019.9:g.12924010G>A	VUS	1 lab	a7f50e4128
1:45293088 PTCH2 C>G	1	45293088	45293088	C	G	PTCH2	c.2357G>C	NM_003738.5	NP_003729.3:p.(Arg786Pro)	NC_000001.10:g.45293088C>G	VUS	1 lab	a788f4166d
17:7752112 KDM6B C>T	17	7752112	7752112	C	T	KDM6B	c.2506C>T	NM_001080424.2	NP_001073893.1:p.(Gln836Ter)	NC_000017.10:g.7752112C>T	(Likely) pathogenic	1 lab	a78d73f678
6:49408010 MMUT A>G	6	49408010	49408010	A	G	MMUT	c.1865T>C	NM_000255.4	NP_000246.2:p.(Met622Thr)	NC_000006.11:g.49408010A>G	VUS	1 lab	a794c97d2e
2:203417496 BMPR2 C>T	2	203417496	203417496	C	T	BMPR2	c.1471C>T	NM_001204.7	NP_001195.2:p.(Arg491Trp)	NC_000002.11:g.203417496C>T	(Likely) pathogenic	1 lab	a7962d20db
22:21344685 LZTR1 G>A	22	21344685	21344685	G	A	LZTR1	c.662G>A	NM_006767.4	NP_006758.2:p.(Ser221Asn)	NC_000022.10:g.21344685G>A	VUS	1 lab	a7969cf81a
6:152708334 SYNE1 G>A	6	152708334	152708334	G	A	SYNE1	c.8360C>T	NM_182961.4	NP_892006.3:p.(Thr2787Met)	NC_000006.11:g.152708334G>A	(Likely) benign	1 lab	a79a6259c3
7:103180705 RELN C>T	7	103180705	103180705	C	T	RELN	c.6869G>A	NM_005045.4	NP_005036.2:p.(Arg2290His)	NC_000007.13:g.103180705C>T	VUS	1 lab	a79fe7fd07
17:73956440 ACOX1 G>A	17	73956440	73956440	G	A	ACOX1	c.286C>T	NM_004035.7	NP_004026.2:p.(Arg96Trp)	NC_000017.10:g.73956440G>A	VUS	1 lab	a7a20e5ef1
17:43362217 MAP3K14 C>T	17	43362217	43362217	C	T	MAP3K14	c.1252G>A	NM_003954.5	NP_003945.2:p.(Glu418Lys)	NC_000017.10:g.43362217C>T	VUS	1 lab	a7aa16c72a
14:50154857 POLE2 C>T	14	50154857	50154857	C	T	POLE2	c.65G>A	NM_002692.4	NP_002683.2:p.(Arg22His)	NC_000014.8:g.50154857C>T	VUS	1 lab	a7aa8b5932
11:118359443 KMT2A C>T	11	118359443	118359443	C	T	KMT2A	c.4447C>T	NM_001197104.2	NP_001184033.1:p.(His1483Tyr)	NC_000011.9:g.118359443C>T	VUS	1 lab	a7aba8ecd6
17:17701711 RAI1 G>A	17	17701711	17701711	G	A	RAI1	c.5449G>A	NM_030665.4	NP_109590.3:p.(Gly1817Arg)	NC_000017.10:g.17701711G>A	(Likely) benign	1 lab	a7b8ad691b
19:36342510 NPHS1 CAG>C	19	36342510	36342512	CAG	C	NPHS1	c.121_122del	NM_004646.3	NP_004637.1:p.(Leu41AspfsTer50)	NC_000019.9:g.36342511_36342512del	(Likely) pathogenic	1 lab	a7baf4a767
9:135974100 RALGDS G>A	9	135974100	135974100	G	A	RALGDS	c.2619C>T	NM_006266.4	NP_006257.1:p.(Thr873=)	NC_000009.11:g.135974100G>A	(Likely) benign	1 lab	a7bcf75258
7:128477511 FLNC C>A	7	128477511	128477511	C	A	FLNC	c.759C>A	NM_001458.5	NP_001449.3:p.(Tyr253Ter)	NC_000007.13:g.128477511C>A	(Likely) pathogenic	1 lab	a7c36ecd9b
1:2340175 PEX10 G>A	1	2340175	2340175	G	A	PEX10	c.316C>T	NM_153818.2	NP_722540.1:p.(Leu106=)	NC_000001.10:g.2340175G>A	(Likely) benign	1 lab	a7c8850f20
22:21346109 LZTR1 C>T	22	21346109	21346109	C	T	LZTR1	c.984C>T	NM_006767.4	NP_006758.2:p.(Ser328=)	NC_000022.10:g.21346109C>T	(Likely) benign	1 lab	a7c987be35
3:121981216 CASR C>A	3	121981216	121981216	C	A	CASR	c.1334C>A	NM_000388.4	NP_000379.3:p.(Thr445Asn)	NC_000003.11:g.121981216C>A	VUS	1 lab	a7cae37265
3:9490267 SETD5 C>T	3	9490267	9490267	C	T	SETD5	c.2299C>T	NM_001080517.3	NP_001073986.1:p.(Arg767Cys)	NC_000003.11:g.9490267C>T	VUS	1 lab	a7cbc376ef
9:106882426 SMC2 TAAA>T	9	106882426	106882431	TAAA	T	SMC2	c.2118_2120del	NM_001042550.2	NP_001036015.1:p.(Lys706del)	NC_000009.11:g.106882429_106882431del	VUS	1 lab	a7cc290dff
20:35563433 SAMHD1 C>T	20	35563433	35563433	C	T	SAMHD1	c.508G>A	NM_015474.4	NP_056289.2:p.(Gly170Arg)	NC_000020.10:g.35563433C>T	VUS	1 lab	a7cce0deab
6:129704300 LAMA2 G>A	6	129704300	129704300	G	A	LAMA2	c.4993G>A	NM_000426.4	NP_000417.3:p.(Gly1665Arg)	NC_000006.11:g.129704300G>A	(Likely) benign	1 lab	a7d35570b6
X:70524857 ITGB1BP2 C>T	X	70524857	70524857	C	T	ITGB1BP2	c.859C>T	NM_012278.4	NP_036410.1:p.(Arg287Trp)	NC_000023.10:g.70524857C>T	VUS	1 lab	a7dbb8783a
17:39740124 KRT14 A>G	17	39740124	39740124	A	G	KRT14	c.815T>C	NM_000526.5	NP_000517.3:p.(Met272Thr)	NC_000017.10:g.39740124A>G	(Likely) pathogenic	1 lab	a7dd33478c
12:13761568 GRIN2B A>G	12	13761568	13761568	A	G	GRIN2B	c.1979T>C	NM_000834.5	NP_000825.2:p.(Val660Ala)	NC_000012.11:g.13761568A>G	VUS	1 lab	a7dd6bd313
9:131115808 SLC27A4 C>G	9	131115808	131115808	C	G	SLC27A4	c.1312C>G	NM_005094.4	NP_005085.2:p.(Pro438Ala)	NC_000009.11:g.131115808C>G	VUS	1 lab	a7df621a06
3:12650790 RAF1 A>G	3	12650790	12650790	A	G	RAF1	c.365T>C	NM_002880.4	NP_002871.1:p.(Ile122Thr)	NC_000003.11:g.12650790A>G	VUS	1 lab	a7e420508d
8:68131676 ARFGEF1 T>C	8	68131676	68131676	T	C	ARFGEF1	c.4328A>G	NM_006421.5	NP_006412.2:p.(Gln1443Arg)	NC_000008.10:g.68131676T>C	VUS	1 lab	a7e7de2690
X:16168467 GRPR T>C	X	16168467	16168467	T	C	GRPR	c.453T>C	NM_005314.3	NP_005305.1:p.(Ser151=)	NC_000023.10:g.16168467T>C	(Likely) benign	1 lab	a7eb5804ce
2:27688278 IFT172 C>T	2	27688278	27688278	C	T	IFT172	c.1937G>A	NM_015662.3	NP_056477.1:p.(Arg646Lys)	NC_000002.11:g.27688278C>T	VUS	1 lab	a7ebd49919
17:73512985 TSEN54 A>C	17	73512985	73512985	A	C	TSEN54	c.215A>C	NM_207346.3	NP_997229.2:p.(Glu72Ala)	NC_000017.10:g.73512985A>C	VUS	1 lab	a7ec2cc0aa
1:223176321 DISP1 A>G	1	223176321	223176321	A	G	DISP1	c.1582A>G	NM_032890.5	NP_116279.2:p.(Thr528Ala)	NC_000001.10:g.223176321A>G	VUS	1 lab	a7f2e5b6df
19:39219799 ACTN4 G>A	19	39219799	39219799	G	A	ACTN4	c.2577+5G>A	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39219799G>A	VUS	1 lab	a7f66929d2
1:241663853 FH TC>T	1	241663853	241663858	TC	T	FH	c.1273del	NM_000143.4	NP_000134.2:p.(Asp425MetfsTer24)	NC_000001.10:g.241663858del	(Likely) pathogenic	1 lab	a7f70f6c70
13:32930612 BRCA2 AT>A	13	32930612	32930614	AT	A	BRCA2	c.7485del	NM_000059.4	NP_000050.3:p.(Lys2496ArgfsTer28)	NC_000013.10:g.32930614del	(Likely) pathogenic	1 lab	a7f79f1113
20:62045443 KCNQ2 C>T	20	62045443	62045443	C	T	KCNQ2	c.1629G>A	NM_172107.4	NP_742105.1:p.(Val543=)	NC_000020.10:g.62045443C>T	(Likely) benign	1 lab	a7fc58804d
15:62212445 VPS13C G>A	15	62212445	62212445	G	A	VPS13C	c.7298C>T	NM_001018088.3	NP_001018098.1:p.(Pro2433Leu)	NC_000015.9:g.62212445G>A	VUS	1 lab	a7fc6b2a71
8:143822587 SLURP1 G>A	8	143822587	143822587	G	A	SLURP1	c.286C>T	NM_020427.3	NP_065160.1:p.(Arg96Ter)	NC_000008.10:g.143822587G>A	(Likely) pathogenic	1 lab	a7ff83269e
17:61565998 ACE A>C	17	61565998	61565998	A	C	ACE	c.2306-11A>C	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61565998A>C	(Likely) benign	1 lab	a8045ec9bb
11:108183199 ATM AAAG>A	11	108183199	108183207	AAAG	A	ATM	c.5986_5988del	NM_000051.4	NP_000042.3:p.(Glu1996del)	NC_000011.9:g.108183205_108183207del	VUS	1 lab	a8061b76c5
3:167540775 SERPINI1 T>A	3	167540775	167540775	T	A	SERPINI1	c.981T>A	NM_005025.5	NP_005016.1:p.(Asp327Glu)	NC_000003.11:g.167540775T>A	VUS	1 lab	a80b26f144
6:143784031 PEX3 AT>A	6	143784031	143784039	AT	A	PEX3	c.206-14del	NM_003630.3	NP_003621.1:p.?	NC_000006.11:g.143784039del	(Likely) benign	1 lab	a80b45027c
13:32776603 FRY T>C	13	32776603	32776603	T	C	FRY	c.3957T>C	NM_023037.3	NP_075463.2:p.(Leu1319=)	NC_000013.10:g.32776603T>C	(Likely) benign	1 lab	a80c5c8a5e
9:135772588 TSC1 AGCTGCTTCT>A	9	135772588	135772600	AGCTGCTTCT	A	TSC1	c.2949_2957del	NM_000368.5	NP_000359.1:p.(Ala988_Glu990del)	NC_000009.11:g.135772592_135772600del	VUS	1 lab	a816ecee0c
3:78717390 ROBO1 A>T	3	78717390	78717390	A	T	ROBO1	c.1693T>A	NM_002941.4	NP_002932.1:p.(Ser565Thr)	NC_000003.11:g.78717390A>T	VUS	1 lab	a819d3dea3
20:61981165 CHRNA4 C>G	20	61981165	61981165	C	G	CHRNA4	c.1598G>C	NM_000744.7	NP_000735.1:p.(Cys533Ser)	NC_000020.10:g.61981165C>G	VUS	1 lab	a81e6e8055
7:128486830 FLNC A>C	7	128486830	128486830	A	C	FLNC	c.4159A>C	NM_001458.5	NP_001449.3:p.(Ile1387Leu)	NC_000007.13:g.128486830A>C	VUS	1 lab	a827456005
9:35805542 NPR2 C>T	9	35805542	35805542	C	T	NPR2	c.1922C>T	NM_003995.4	NP_003986.2:p.(Ser641Leu)	NC_000009.11:g.35805542C>T	VUS	1 lab	a82c76fe65
X:135290691 FHL1 GA>G	X	135290691	135290693	GA	G	FHL1	c.581del	NM_001159704.1	NP_001153176.1:p.(Lys194SerfsTer64)	NC_000023.10:g.135290693del	(Likely) pathogenic	1 lab	a82cf0647a
18:28914111 DSG1 G>A	18	28914111	28914111	G	A	DSG1	c.951G>A	NM_001942.4	NP_001933.2:p.(Trp317Ter)	NC_000018.9:g.28914111G>A	(Likely) pathogenic	1 lab	a830f84daf
7:103202103 RELN G>A	7	103202103	103202103	G	A	RELN	c.5405C>T	NM_005045.4	NP_005036.2:p.(Ser1802Leu)	NC_000007.13:g.103202103G>A	VUS	1 lab	a83107b0d4
2:179467105 TTN GC>G	2	179467105	179467106	GC	G	TTN	c.55023del	NM_001267550.2	NP_001254479.2:p.(Glu18341AspfsTer9)	NC_000002.11:g.179467106del	(Likely) pathogenic	1 lab	a831176fb6
12:12317442 LRP6 C>A	12	12317442	12317442	C	A	LRP6	c.1817G>T	NM_002336.3	NP_002327.2:p.(Arg606Ile)	NC_000012.11:g.12317442C>A	(Likely) pathogenic	1 lab	a832102612
8:55372212 SOX17 G>A	8	55372212	55372212	G	A	SOX17	c.902G>A	NM_022454.4	NP_071899.1:p.(Gly301Asp)	NC_000008.10:g.55372212G>A	VUS	1 lab	a83399f73b
7:42088249 GLI3 T>C	7	42088249	42088249	T	C	GLI3	c.520A>G	NM_000168.6	NP_000159.3:p.(Ile174Val)	NC_000007.13:g.42088249T>C	VUS	1 lab	a83d562235
2:25053652 ADCY3 G>A	2	25053652	25053652	G	A	ADCY3	c.2098C>T	NM_004036.5	NP_004027.2:p.(Arg700Trp)	NC_000002.11:g.25053652G>A	VUS	1 lab	a83e82f8cc
6:29911064 HLA-A A>G	6	29911064	29911064	A	G	HLA-A	c.363A>G	NM_002116.8	NP_002107.3:p.(Ile121Met)	NC_000006.11:g.29911064A>G	(Likely) benign	1 lab	a843c97fec
4:187004807 TLR3 G>T	4	187004807	187004807	G	T	TLR3	c.1967G>T	NM_003265.3	NP_003256.1:p.(Trp656Leu)	NC_000004.11:g.187004807G>T	VUS	1 lab	a8441f1ff3
17:40500559 STAT3 T>A	17	40500559	40500559	T	A	STAT3	c.-23-2A>T	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40500559T>A	VUS	1 lab	a8490f1378
12:122817561 CLIP1 A>C	12	122817561	122817561	A	C	CLIP1	c.2807T>G	NM_002956.3	NP_002947.1:p.(Met936Arg)	NC_000012.11:g.122817561A>C	(Likely) benign	1 lab	a84b0a7eb3
10:64949097 JMJD1C T>C	10	64949097	64949097	T	C	JMJD1C	c.6401A>G	NM_032776.3	NP_116165.1:p.(Glu2134Gly)	NC_000010.10:g.64949097T>C	VUS	1 lab	a84cae3eaf
11:65426062 RELA C>T	11	65426062	65426062	C	T	RELA	c.665-92G>A	NM_021975.4	NP_068810.3:p.?	NC_000011.9:g.65426062C>T	VUS	1 lab	a84ce307ce
2:164467779 FIGN C>T	2	164467779	164467779	C	T	FIGN	c.563G>A	NM_018086.4	NP_060556.2:p.(Gly188Glu)	NC_000002.11:g.164467779C>T	VUS	1 lab	a854bbc586
7:83014671 SEMA3E C>A	7	83014671	83014671	C	A	SEMA3E	c.1814G>T	NM_012431.3	NP_036563.1:p.(Arg605Leu)	NC_000007.13:g.83014671C>A	VUS	1 lab	a855e5a3c5
7:97482667 ASNS G>A	7	97482667	97482667	G	A	ASNS	c.1270C>T	NM_001352496.2	NP_001339425.1:p.(Arg424Ter)	NC_000007.13:g.97482667G>A	VUS	1 lab	a856bab09a
4:190874285 FRG1 G>A	4	190874285	190874285	G	A	FRG1	c.317+5G>A	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190874285G>A	(Likely) benign	1 lab	a85d6febcd
6:88226566 RARS2 T>C	6	88226566	88226566	T	C	RARS2	c.1544A>G	NM_020320.5	NP_064716.2:p.(Asp515Gly)	NC_000006.11:g.88226566T>C	(Likely) pathogenic	1 lab	a85e12d0a8
5:156742074 CYFIP2 C>T	5	156742074	156742074	C	T	CYFIP2	c.1328C>T	NM_001037333.3	NP_001032410.1:p.(Thr443Ile)	NC_000005.9:g.156742074C>T	VUS	1 lab	a86107780b
11:118374654 KMT2A T>C	11	118374654	118374654	T	C	KMT2A	c.8047T>C	NM_001197104.2	NP_001184033.1:p.(Tyr2683His)	NC_000011.9:g.118374654T>C	VUS	1 lab	a8618a897e
2:179593808 TTN A>G	2	179593808	179593808	A	G	TTN	c.18957T>C	NM_001267550.2	NP_001254479.2:p.(Pro6319=)	NC_000002.11:g.179593808A>G	(Likely) benign	1 lab	a875121723
16:23619330 PALB2 GC>G	16	23619330	23619334	GC	G	PALB2	c.3204del	NM_024675.4	NP_078951.2:p.(Leu1069PhefsTer6)	NC_000016.9:g.23619334del	(Likely) pathogenic	1 lab	a864d51e24
17:11535956 DNAH9 G>A	17	11535956	11535956	G	A	DNAH9	c.1571G>A	NM_001372.4	NP_001363.2:p.(Arg524Gln)	NC_000017.10:g.11535956G>A	VUS	1 lab	a866889443
12:6711155 CHD4 C>T	12	6711155	6711155	C	T	CHD4	c.409G>A	NM_001273.5	NP_001264.2:p.(Glu137Lys)	NC_000012.11:g.6711155C>T	VUS	1 lab	a866cc3b6c
7:117232118 CFTR C>A	7	117232118	117232118	C	A	CFTR	c.1897C>A	NM_000492.4	NP_000483.3:p.(Leu633Ile)	NC_000007.13:g.117232118C>A	VUS	1 lab	a8670bdd2f
9:80912115 PSAT1 G>C	9	80912115	80912115	G	C	PSAT1	c.-12G>C	NM_058179.4	NP_478059.1:p.?	NC_000009.11:g.80912115G>C	(Likely) benign	1 lab	a8674cd450
3:38595836 SCN5A G>A	3	38595836	38595836	G	A	SCN5A	c.4747C>T	NM_001099404.2	NP_001092874.1:p.(Arg1583Cys)	NC_000003.11:g.38595836G>A	VUS	1 lab	a86c5e4744
1:228285553 ARF1 G>T	1	228285553	228285553	G	T	ARF1	c.385G>T	NM_001024226.2	NP_001019397.1:p.(Asp129Tyr)	NC_000001.10:g.228285553G>T	VUS	1 lab	a86dfd51a6
18:43438000 EPG5 C>T	18	43438000	43438000	C	T	EPG5	c.7260G>A	NM_020964.3	NP_066015.2:p.(Trp2420Ter)	NC_000018.9:g.43438000C>T	(Likely) pathogenic	1 lab	a87537d605
17:7097731 DLG4 A>T	17	7097731	7097731	A	T	DLG4	c.1514T>A	NM_001365.4	NP_001356.1:p.(Val505Asp)	NC_000017.10:g.7097731A>T	VUS	1 lab	a8779aa389
22:51065136 ARSA C>T	22	51065136	51065136	C	T	ARSA	c.737G>A	NM_000487.6	NP_000478.3:p.(Arg246His)	NC_000022.10:g.51065136C>T	(Likely) pathogenic	1 lab	a8805607e6
18:72343567 ZNF407 T>G	18	72343567	72343567	T	G	ZNF407	c.592T>G	NM_017757.3	NP_060227.2:p.(Cys198Gly)	NC_000018.9:g.72343567T>G	VUS	1 lab	a88c4cb1ac
9:133914340 LAMC3 C>T	9	133914340	133914340	C	T	LAMC3	c.1066C>T	NM_006059.4	NP_006050.3:p.(Arg356Cys)	NC_000009.11:g.133914340C>T	VUS	1 lab	a892f33a56
5:251216 SDHA G>A	5	251216	251216	G	A	SDHA	c.1661G>A	NM_004168.4	NP_004159.2:p.(Arg554Gln)	NC_000005.9:g.251216G>A	VUS	1 lab	a89d812aff
3:58416538 PDHB T>C	3	58416538	58416538	T	C	PDHB	c.435A>G	NM_000925.4	NP_000916.2:p.(Arg145=)	NC_000003.11:g.58416538T>C	(Likely) benign	1 lab	a9763cf4d8
15:27185073 GABRA5 C>T	15	27185073	27185073	C	T	GABRA5	c.726C>T	NM_000810.4	NP_000801.1:p.(Gly242=)	NC_000015.9:g.27185073C>T	(Likely) benign	1 lab	a89ddf579c
17:7752650 KDM6B G>A	17	7752650	7752650	G	A	KDM6B	c.3044G>A	NM_001080424.2	NP_001073893.1:p.(Arg1015His)	NC_000017.10:g.7752650G>A	VUS	1 lab	a89e65ceb4
12:39713729 KIF21A G>A	12	39713729	39713729	G	A	KIF21A	c.3719C>T	NM_017641.4	NP_060111.2:p.(Ser1240Leu)	NC_000012.11:g.39713729G>A	VUS	1 lab	a89e9c2883
8:15508200 TUSC3 T>C	8	15508200	15508200	T	C	TUSC3	c.309-6T>C	NM_006765.4	NP_006756.2:p.?	NC_000008.10:g.15508200T>C	(Likely) benign	1 lab	a8af0ee8cb
2:233407741 CHRNG T>C	2	233407741	233407741	T	C	CHRNG	c.754T>C	NM_005199.5	NP_005190.4:p.(Cys252Arg)	NC_000002.11:g.233407741T>C	VUS	1 lab	a8b4b1e937
18:21413869 LAMA3 T>C	18	21413869	21413869	T	C	LAMA3	c.2901T>C	NM_198129.4	NP_937762.2:p.(Ala967=)	NC_000018.9:g.21413869T>C	(Likely) benign	1 lab	a8b62a8fa5
X:10176412 CLCN4 C>T	X	10176412	10176412	C	T	CLCN4	c.1171C>T	NM_001830.4	NP_001821.2:p.(Arg391Cys)	NC_000023.10:g.10176412C>T	VUS	1 lab	a8b765cff1
21:45716325 AIRE C>A	21	45716325	45716325	C	A	AIRE	c.1563C>A	NM_000383.4	NP_000374.1:p.(Ser521Arg)	NC_000021.8:g.45716325C>A	VUS	1 lab	a8be7235c1
22:50964255 SCO2 C>T	22	50964255	50964255	C	T	SCO2	c.-14+420G>A	NM_001169109.2	NP_001162580.1:p.?	NC_000022.10:g.50964255C>T	(Likely) benign	1 lab	a8c0c785cb
16:89354941 ANKRD11 A>T	16	89354941	89354941	A	T	ANKRD11	c.739T>A	NM_013275.6	NP_037407.4:p.(Tyr247Asn)	NC_000016.9:g.89354941A>T	VUS	1 lab	a8c169a165
4:114251632 ANK2 G>A	4	114251632	114251632	G	A	ANK2	c.3125+6G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114251632G>A	(Likely) benign	1 lab	a8c3824f88
19:13566015 CACNA1A T>A	19	13566015	13566015	T	A	CACNA1A	c.305A>T	NM_001127221.2	NP_001120693.1:p.(Tyr102Phe)	NC_000019.9:g.13566015T>A	VUS	1 lab	a8c798a45d
18:7017322 LAMA1 A>G	18	7017322	7017322	A	G	LAMA1	c.2763T>C	NM_005559.4	NP_005550.2:p.(Cys921=)	NC_000018.9:g.7017322A>G	(Likely) benign	1 lab	a8cb5899c9
17:44159875 KANSL1 C>G	17	44159875	44159875	C	G	KANSL1	c.1465G>C	NM_001193466.2	NP_001180395.1:p.(Glu489Gln)	NC_000017.10:g.44159875C>G	VUS	1 lab	a8ce15f767
X:79938009 BRWD3 C>T	X	79938009	79938009	C	T	BRWD3	c.4352G>A	NM_153252.5	NP_694984.5:p.(Arg1451His)	NC_000023.10:g.79938009C>T	VUS	1 lab	a8cf6d81d3
8:145737636 RECQL4 A>G	8	145737636	145737636	A	G	RECQL4	c.3127T>C	NM_004260.4	NP_004251.4:p.(Leu1043=)	NC_000008.10:g.145737636A>G	(Likely) benign	1 lab	a8d1c4202f
16:56519579 BBS2 C>T	16	56519579	56519579	C	T	BBS2	c.1982G>A	NM_031885.5	NP_114091.4:p.(Arg661His)	NC_000016.9:g.56519579C>T	VUS	1 lab	a8d312bbb1
8:11414237 BLK T>C	8	11414237	11414237	T	C	BLK	c.843T>C	NM_001715.3	NP_001706.2:p.(Phe281=)	NC_000008.10:g.11414237T>C	(Likely) benign	1 lab	a8d4c6bd55
1:245005373 COX20 A>G	1	245005373	245005373	A	G	COX20	c.157+13A>G	NM_198076.6	NP_932342.1:p.?	NC_000001.10:g.245005373A>G	(Likely) benign	1 lab	a8dbea55dd
2:179614617 TTN A>G	2	179614617	179614617	A	G	TTN	c.12510T>C	NM_133379.5	NP_596870.2:p.(Cys4170=)	NC_000002.11:g.179614617A>G	(Likely) benign	1 lab	a8dde8e00e
19:629605 POLRMT G>A	19	629605	629605	G	A	POLRMT	c.757C>T	NM_005035.4	NP_005026.3:p.(Arg253Trp)	NC_000019.9:g.629605G>A	(Likely) benign	1 lab	a8df712d72
X:11133044 HCCS G>A	X	11133044	11133044	G	A	HCCS	c.190G>A	NM_005333.5	NP_005324.3:p.(Val64Met)	NC_000023.10:g.11133044G>A	(Likely) benign	1 lab	a8e307731e
X:48545233 WAS C>T	X	48545233	48545233	C	T	WAS	c.623C>T	NM_000377.3	NP_000368.1:p.(Thr208Met)	NC_000023.10:g.48545233C>T	VUS	1 lab	a8e7286a32
8:38269991 FGFR1 T>A	8	38269991	38269991	T	A	FGFR1	c.2409A>T	NM_001354367.2	NP_001341296.1:p.(Arg803Ser)	NC_000008.10:g.38269991T>A	VUS	1 lab	a8f147cfd2
1:155735012 GON4L T>C	1	155735012	155735012	T	C	GON4L	c.4252A>G	NM_001282860.2	NP_001269789.1:p.(Met1418Val)	NC_000001.10:g.155735012T>C	(Likely) benign	1 lab	a8f170a239
1:63119815 DOCK7 C>T	1	63119815	63119815	C	T	DOCK7	c.160G>A	NM_001271999.2	NP_001258928.1:p.(Ala54Thr)	NC_000001.10:g.63119815C>T	VUS	1 lab	a8f99f9dba
3:55504577 WNT5A G>A	3	55504577	55504577	G	A	WNT5A	c.686C>T	NM_003392.7	NP_003383.4:p.(Thr229Met)	NC_000003.11:g.55504577G>A	(Likely) benign	1 lab	a8fad3bc95
X:102192946 RAB40AL A>G	X	102192946	102192946	A	G	RAB40AL	c.700A>G	NM_001031834.1	NP_001027004.1:p.(Arg234Gly)	NC_000023.10:g.102192946A>G	(Likely) benign	1 lab	a8fdd9d233
22:29085141 CHEK2 T>TAG	22	29085141	29085145	T	TAG	CHEK2	c.1522_1523dup	NM_007194.4	NP_009125.1:p.(Pro509TyrfsTer5)	NC_000022.10:g.29085144_29085145dup	VUS	1 lab	a902003d68
17:29527593 NF1 T>C	17	29527593	29527593	T	C	NF1	c.1042T>C	NM_000267.3	NP_000258.1:p.(Ser348Pro)	NC_000017.10:g.29527593T>C	VUS	1 lab	a90cec531d
9:79867169 VPS13A C>T	9	79867169	79867169	C	T	VPS13A	c.2189C>T	NM_033305.3	NP_150648.2:p.(Ala730Val)	NC_000009.11:g.79867169C>T	VUS	1 lab	a90d080cc4
2:163124671 IFIH1 A>T	2	163124671	163124671	A	T	IFIH1	c.2733T>A	NM_022168.4	NP_071451.2:p.(Ser911Arg)	NC_000002.11:g.163124671A>T	VUS	1 lab	a90e16f461
5:176831177 F12 TC>T	5	176831177	176831186	TC	T	F12	c.1018+19del	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176831186del	(Likely) benign	1 lab	a90f0f07fb
7:146741144 CNTNAP2 AC>A	7	146741144	146741145	AC	A	CNTNAP2	c.549del	NM_014141.6	NP_054860.1:p.(Trp184GlyfsTer22)	NC_000007.13:g.146741145del	(Likely) pathogenic	1 lab	a910572250
14:30194856 PRKD1 T>C	14	30194856	30194856	T	C	PRKD1	c.289A>G	NM_002742.3	NP_002733.2:p.(Met97Val)	NC_000014.8:g.30194856T>C	VUS	1 lab	a91ab8f51a
1:181752921 CACNA1E G>T	1	181752921	181752921	G	T	CACNA1E	c.5470+1G>T	NM_000721.4	NP_000712.2:p.?	NC_000001.10:g.181752921G>T	VUS	1 lab	a91cffea76
10:6063520 IL2RA G>T	10	6063520	6063520	G	T	IL2RA	c.504C>A	NM_000417.3	NP_000408.1:p.(Cys168Ter)	NC_000010.10:g.6063520G>T	(Likely) pathogenic	1 lab	a9221c4967
11:57367351 SERPING1 G>A	11	57367351	57367351	G	A	SERPING1	c.52-1G>A	NM_000062.3	NP_000053.2:p.?	NC_000011.9:g.57367351G>A	(Likely) pathogenic	1 lab	a926837582
6:102337497 GRIK2 G>T	6	102337497	102337497	G	T	GRIK2	c.1525-18G>T	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102337497G>T	(Likely) benign	1 lab	a9277d7548
5:36629529 SLC1A3 CT>C	5	36629529	36629544	CT	C	SLC1A3	c.182-8del	NM_004172.5	NP_004163.3:p.?	NC_000005.9:g.36629544del	(Likely) benign	1 lab	a929a593ba
8:144997571 PLEC G>A	8	144997571	144997571	G	A	PLEC	c.6937C>T	NM_201380.4	NP_958782.1:p.(Gln2313Ter)	NC_000008.10:g.144997571G>A	(Likely) pathogenic	1 lab	a931064bd8
17:73839130 UNC13D G>GCTC	17	73839130	73839136	G	GCTC	UNC13D	c.283_285dup	NM_199242.3	NP_954712.1:p.(Glu95dup)	NC_000017.10:g.73839134_73839136dup	VUS	1 lab	a9340643e7
2:112754943 MERTK C>T	2	112754943	112754943	C	T	MERTK	c.1494C>T	NM_006343.3	NP_006334.2:p.(Asn498=)	NC_000002.11:g.112754943C>T	(Likely) benign	1 lab	a93b659936
12:21015760 SLCO1B3 G>A	12	21015760	21015760	G	A	SLCO1B3	c.699G>A	NM_019844.4	NP_062818.1:p.(Met233Ile)	NC_000012.11:g.21015760G>A	(Likely) benign	1 lab	a93b95bc5d
10:90530632 LIPN G>T	10	90530632	90530632	G	T	LIPN	c.703G>T	NM_001102469.2	NP_001095939.1:p.(Glu235Ter)	NC_000010.10:g.90530632G>T	(Likely) pathogenic	1 lab	a93bbc0c26
3:170136937 CLDN11 A>G	3	170136937	170136937	A	G	CLDN11	c.83A>G	NM_005602.6	NP_005593.2:p.(Asn28Ser)	NC_000003.11:g.170136937A>G	VUS	1 lab	a93e2312b1
11:102666316 MMP1 T>C	11	102666316	102666316	T	C	MMP1	c.648A>G	NM_002421.4	NP_002412.1:p.(Ala216=)	NC_000011.9:g.102666316T>C	(Likely) benign	1 lab	a940655ff3
6:79787746 PHIP C>A	6	79787746	79787746	C	A	PHIP	c.40G>T	NM_017934.7	NP_060404.4:p.(Glu14Ter)	NC_000006.11:g.79787746C>A	(Likely) pathogenic	1 lab	a94ca93a6d
1:208255852 PLXNA2 T>C	1	208255852	208255852	T	C	PLXNA2	c.2300A>G	NM_025179.4	NP_079455.3:p.(Tyr767Cys)	NC_000001.10:g.208255852T>C	VUS	1 lab	a953338ebe
12:2791136 CACNA1C G>A	12	2791136	2791136	G	A	CACNA1C	c.5465G>A	NM_001129830.3	NP_001123302.2:p.(Cys1822Tyr)	NC_000012.11:g.2791136G>A	VUS	1 lab	a9538f7d98
11:2189321 TH C>T	11	2189321	2189321	C	T	TH	c.669G>A	NM_199292.3	NP_954986.2:p.(Pro223=)	NC_000011.9:g.2189321C>T	(Likely) benign	1 lab	a9549850d1
3:12660248 RAF1 TG>T	3	12660248	12660250	TG	T	RAF1	c.-26-3del	NM_001354689.3	NP_001341618.1:p.?	NC_000003.11:g.12660250del	(Likely) benign	1 lab	a955c5fe53
7:100240883 ACTL6B G>A	7	100240883	100240883	G	A	ACTL6B	c.1267C>T	NM_016188.5	NP_057272.1:p.(Arg423Ter)	NC_000007.13:g.100240883G>A	(Likely) pathogenic	1 lab	a956737a86
13:21205192 IFT88 G>A	13	21205192	21205192	G	A	IFT88	c.1364G>A	NM_175605.5	NP_783195.2:p.(Ser455Asn)	NC_000013.10:g.21205192G>A	(Likely) benign	1 lab	a958af0865
3:71026827 FOXP1 T>TCTAA	3	71026827	71026833	T	TCTAA	FOXP1	c.1391_1394dup	NM_032682.6	NP_116071.2:p.(Arg465SerfsTer2)	NC_000003.11:g.71026830_71026833dup	(Likely) pathogenic	1 lab	a95cfb1cf5
20:62294231 RTEL1 A>G	20	62294231	62294231	A	G	RTEL1	c.527A>G	NM_001283009.2	NP_001269938.1:p.(Asn176Ser)	NC_000020.10:g.62294231A>G	VUS	1 lab	a95d5bac92
5:95761592 PCSK1 G>A	5	95761592	95761592	G	A	PCSK1	c.328C>T	NM_000439.5	NP_000430.3:p.(Arg110Cys)	NC_000005.9:g.95761592G>A	VUS	1 lab	a95e203e56
8:106810990 ZFPM2 C>T	8	106810990	106810990	C	T	ZFPM2	c.778C>T	NM_012082.4	NP_036214.2:p.(Arg260Trp)	NC_000008.10:g.106810990C>T	VUS	1 lab	a96007d896
16:2129658 TSC2 C>T	16	2129658	2129658	C	T	TSC2	c.3385C>T	NM_000548.5	NP_000539.2:p.(Arg1129Cys)	NC_000016.9:g.2129658C>T	VUS	1 lab	a961e087be
X:40982948 USP9X C>A	X	40982948	40982948	C	A	USP9X	c.67C>A	NM_001039590.3	NP_001034679.2:p.(Gln23Lys)	NC_000023.10:g.40982948C>A	VUS	1 lab	a968d1be72
6:7586110 DSP A>G	6	7586110	7586110	A	G	DSP	c.8615A>G	NM_004415.4	NP_004406.2:p.(Ter2872TrpextTer1)	NC_000006.11:g.7586110A>G	(Likely) benign	1 lab	a96d87ab1b
9:129377830 LMX1B G>A	9	129377830	129377830	G	A	LMX1B	c.308G>A	NM_002316.4	NP_002307.2:p.(Cys103Tyr)	NC_000009.11:g.129377830G>A	(Likely) pathogenic	1 lab	a970a60141
2:96949456 SNRNP200 C>T	2	96949456	96949456	C	T	SNRNP200	c.4585-5G>A	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96949456C>T	(Likely) benign	1 lab	a9754fdb3c
18:32455297 DTNA C>T	18	32455297	32455297	C	T	DTNA	c.1598C>T	NM_001198939.2	NP_001185868.1:p.(Pro533Leu)	NC_000018.9:g.32455297C>T	VUS	1 lab	a97d318b39
X:31196077 DMD G>C	X	31196077	31196077	G	C	DMD	c.10234C>G	NM_004006.3	NP_003997.2:p.(Leu3412Val)	NC_000023.10:g.31196077G>C	VUS	1 lab	a97e51a941
10:115389356 NRAP G>A	10	115389356	115389356	G	A	NRAP	c.2031C>T	NM_001261463.2	NP_001248392.1:p.(Leu677=)	NC_000010.10:g.115389356G>A	(Likely) benign	1 lab	a97e6024ea
14:23894593 MYH7 T>TCCAGCAGCC	14	23894593	23894612	T	TCCAGCAGCC	MYH7	c.2312_2320dup	NM_000257.4	NP_000248.2:p.(Gly771_Leu773dup)	NC_000014.8:g.23894604_23894612dup	VUS	1 lab	a97e6e298f
12:121437221 HNF1A T>C	12	121437221	121437221	T	C	HNF1A	c.1623+29T>C	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121437221T>C	(Likely) benign	1 lab	a9835fe954
7:113558909 PPP1R3A G>T	7	113558909	113558909	G	T	PPP1R3A	c.143C>A	NM_002711.4	NP_002702.2:p.(Ser48Tyr)	NC_000007.13:g.113558909G>T	VUS	1 lab	a988cb4f8a
5:71495048 MAP1B T>C	5	71495048	71495048	T	C	MAP1B	c.5866T>C	NM_005909.5	NP_005900.2:p.(Ser1956Pro)	NC_000005.9:g.71495048T>C	VUS	1 lab	a989f286d4
15:35085495 ACTC1 G>A	15	35085495	35085495	G	A	ACTC1	c.405C>T	NM_005159.5	NP_005150.1:p.(Tyr135=)	NC_000015.9:g.35085495G>A	(Likely) benign	1 lab	a98ecaa18d
3:123419539 MYLK G>A	3	123419539	123419539	G	A	MYLK	c.2776C>T	NM_053025.4	NP_444253.3:p.(Arg926Cys)	NC_000003.11:g.123419539G>A	VUS	1 lab	a99014d044
17:42932050 EFTUD2 C>T	17	42932050	42932050	C	T	EFTUD2	c.2133G>A	NM_004247.4	NP_004238.3:p.(Arg711=)	NC_000017.10:g.42932050C>T	(Likely) benign	1 lab	a99388311b
4:68619905 GNRHR G>A	4	68619905	68619905	G	A	GNRHR	c.149C>T	NM_000406.3	NP_000397.1:p.(Ala50Val)	NC_000004.11:g.68619905G>A	VUS	1 lab	a99709f905
2:179449930 TTN G>A	2	179449930	179449930	G	A	TTN	c.64541C>T	NM_001267550.2	NP_001254479.2:p.(Ala21514Val)	NC_000002.11:g.179449930G>A	VUS	1 lab	a99aa3cdda
3:4558166 ITPR1 CA>C	3	4558166	4558168	CA	C	ITPR1	c.-8del	NM_001168272.2	NP_001161744.1:p.?	NC_000003.11:g.4558168del	VUS	1 lab	a99d8f986e
12:968401 WNK1 T>C	12	968401	968401	T	C	WNK1	c.1401-10T>C	NM_018979.4	NP_061852.3:p.?	NC_000012.11:g.968401T>C	(Likely) benign	1 lab	a9a3c7d235
15:66996336 SMAD6 G>C	15	66996336	66996336	G	C	SMAD6	c.740G>C	NM_005585.5	NP_005576.3:p.(Cys247Ser)	NC_000015.9:g.66996336G>C	VUS	1 lab	a9a946218c
9:117166246 WHRN A>G	9	117166246	117166246	A	G	WHRN	c.2348T>C	NM_015404.4	NP_056219.3:p.(Val783Ala)	NC_000009.11:g.117166246A>G	(Likely) benign	1 lab	a9b18c3802
12:52200903 SCN8A C>T	12	52200903	52200903	C	T	SCN8A	c.5633C>T	NM_001330260.2	NP_001317189.1:p.(Pro1878Leu)	NC_000012.11:g.52200903C>T	VUS	1 lab	a9b1ef732a
6:31978501 TNXA C>T	6	31978501	31978501	C	T	TNXA	n.1483G>A	NR_001284.2		NC_000006.11:g.31978501C>T	(Likely) benign	1 lab	a9b4ee4e0b
3:10076842 FANCD2 CTT>C	3	10076842	10076852	CTT	C	FANCD2	c.378-6_378-5del	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10076851_10076852del	(Likely) benign	1 lab	a9bbac4891
11:57573387 CTNND1 TTATCA>T	11	57573387	57573397	TTATCA	T	CTNND1	c.1762_1766del	NM_001085458.2	NP_001078927.1:p.(Tyr588SerfsTer38)	NC_000011.9:g.57573393_57573397del	(Likely) pathogenic	1 lab	a9c4bac796
X:148584862 IDS A>G	X	148584862	148584862	A	G	IDS	c.398T>C	NM_000202.8	NP_000193.1:p.(Val133Ala)	NC_000023.10:g.148584862A>G	VUS	1 lab	a9c9ee6b49
19:36212432 KMT2B G>A	19	36212432	36212432	G	A	KMT2B	c.2183G>A	NM_014727.3	NP_055542.1:p.(Ser728Asn)	NC_000019.9:g.36212432G>A	(Likely) benign	1 lab	a9cf6ce91d
12:52758951 KRT85 G>A	12	52758951	52758951	G	A	KRT85	c.424C>T	NM_002283.4	NP_002274.1:p.(Arg142Cys)	NC_000012.11:g.52758951G>A	VUS	1 lab	a9d1549d29
X:18631283 CDKL5 C>T	X	18631283	18631283	C	T	CDKL5	c.2164C>T	NM_003159.3	NP_003150.1:p.(Arg722Cys)	NC_000023.10:g.18631283C>T	VUS	1 lab	a9d23921b6
19:51411636 KLK4 G>T	19	51411636	51411636	G	T	KLK4	c.591=	NM_004917.4	NP_004908.4:p.(Gln197=)	NC_000019.9:g.51411636G>T	(Likely) benign	1 lab	a9d3ade198
10:101604207 ABCC2 C>T	10	101604207	101604207	C	T	ABCC2	c.3972C>T	NM_000392.5	NP_000383.2:p.(Ile1324=)	NC_000010.10:g.101604207C>T	(Likely) benign	1 lab	a9d508fc25
7:137782593 AKR1D1 CTT>C	7	137782593	137782608	CTT	C	AKR1D1	c.379-5_379-4del	NM_005989.4	NP_005980.1:p.?	NC_000007.13:g.137782607_137782608del	(Likely) benign	1 lab	a9d7cb968d
13:51530493 RNASEH2B G>GA	13	51530493	51530498	G	GA	RNASEH2B	c.827dup	NM_024570.4	NP_078846.2:p.(Asn276LysfsTer2)	NC_000013.10:g.51530498dup	VUS	1 lab	a9df7ce55f
10:43622165 RET T>C	10	43622165	43622165	T	C	RET	c.3182T>C	NM_020975.6	NP_066124.1:p.(Leu1061Pro)	NC_000010.10:g.43622165T>C	(Likely) pathogenic	1 lab	a9e0606ed8
13:32954153 BRCA2 G>T	13	32954153	32954153	G	T	BRCA2	c.9127G>T	NM_000059.4	NP_000050.3:p.(Glu3043Ter)	NC_000013.10:g.32954153G>T	(Likely) pathogenic	1 lab	a9e4196e33
3:14170931 TMEM43 G>A	3	14170931	14170931	G	A	TMEM43	c.32G>A	NM_024334.3	NP_077310.1:p.(Arg11Gln)	NC_000003.11:g.14170931G>A	VUS	1 lab	a9e7f56619
7:82997321 SEMA3E G>C	7	82997321	82997321	G	C	SEMA3E	c.1909C>G	NM_012431.3	NP_036563.1:p.(Leu637Val)	NC_000007.13:g.82997321G>C	(Likely) benign	1 lab	a9e9f95675
2:179432515 TTN T>G	2	179432515	179432515	T	G	TTN	c.78344A>C	NM_001267550.2	NP_001254479.2:p.(Asp26115Ala)	NC_000002.11:g.179432515T>G	(Likely) benign	1 lab	a9f46c208a
3:197402332 RUBCN T>C	3	197402332	197402332	T	C	RUBCN	c.2566A>G	NM_001145642.4	NP_001139114.1:p.(Ile856Val)	NC_000003.11:g.197402332T>C	VUS	1 lab	a9f616565f
9:140123299 RNF224 C>T	9	140123299	140123299	C	T	RNF224	c.232C>T	NM_001190228.2	NP_001177157.1:p.(Arg78Cys)	NC_000009.11:g.140123299C>T	VUS	1 lab	a9f68514cb
15:28359886 HERC2 C>A	15	28359886	28359886	C	A	HERC2	c.13785G>T	NM_004667.6	NP_004658.3:p.(Glu4595Asp)	NC_000015.9:g.28359886C>A	VUS	1 lab	aa0307f54e
16:90001644 TUBB3 G>A	16	90001644	90001644	G	A	TUBB3	c.785G>A	NM_006086.4	NP_006077.2:p.(Arg262His)	NC_000016.9:g.90001644G>A	(Likely) pathogenic	1 lab	aa0a03f8b8
22:28194183 MN1 A>C	22	28194183	28194183	A	C	MN1	c.2349T>G	NM_002430.3	NP_002421.3:p.(Gly783=)	NC_000022.10:g.28194183A>C	(Likely) benign	1 lab	aa0b71855e
7:130027743 CPA1 C>T	7	130027743	130027743	C	T	CPA1	c.1151C>T	NM_001868.4	NP_001859.1:p.(Thr384Ile)	NC_000007.13:g.130027743C>T	VUS	1 lab	aa107e3ce8
15:29561120 ENTREP2 G>A	15	29561120	29561120	G	A	ENTREP2	c.277-16438C>T	NM_015307.2	NP_056122.1:p.?	NC_000015.9:g.29561120G>A	(Likely) pathogenic	1 lab	cee7584d3a
3:52020668 ACY1 A>AG	3	52020668	52020669	A	AG	ACY1	c.575dup	NM_000666.3	NP_000657.1:p.(Ser192ArgfsTer64)	NC_000003.11:g.52020669dup	VUS	1 lab	aa15d5a95a
3:47050633 NBEAL2 T>G	3	47050633	47050633	T	G	NBEAL2	c.8163+19T>G	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47050633T>G	(Likely) benign	1 lab	aa16dee66a
16:31196384 FUS CGGCAGGGGT>C	16	31196384	31196398	CGGCAGGGGT	C	FUS	c.654_662del	NM_004960.4	NP_004951.1:p.(Arg218_Gly220del)	NC_000016.9:g.31196390_31196398del	(Likely) benign	1 lab	aa178f4b90
16:29825054 PRRT2 C>T	16	29825054	29825054	C	T	PRRT2	c.679C>T	NM_001256443.2	NP_001243372.1:p.(Arg227Ter)	NC_000016.9:g.29825054C>T	(Likely) pathogenic	1 lab	aa1acacc41
18:7012123 LAMA1 A>G	18	7012123	7012123	A	G	LAMA1	c.3378T>C	NM_005559.4	NP_005550.2:p.(Gly1126=)	NC_000018.9:g.7012123A>G	(Likely) benign	1 lab	aa2be30b64
1:186277627 PRG4 AC>A	1	186277627	186277628	AC	A	PRG4	c.2777del	NM_005807.6	NP_005798.3:p.(Thr926IlefsTer12)	NC_000001.10:g.186277628del	(Likely) pathogenic	1 lab	aa2e4933a5
9:141016381 CACNA1B C>T	9	141016381	141016381	C	T	CACNA1B	c.6950C>T	NM_000718.4	NP_000709.1:p.(Thr2317Ile)	NC_000009.11:g.141016381C>T	VUS	1 lab	aa2f594bcf
18:52899739 TCF4 C>T	18	52899739	52899739	C	T	TCF4	c.1649+1G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52899739C>T	VUS	1 lab	aa2fb5c21d
1:233275593 PCNX2 G>A	1	233275593	233275593	G	A	PCNX2	c.3526C>T	NM_014801.4	NP_055616.3:p.(His1176Tyr)	NC_000001.10:g.233275593G>A	VUS	1 lab	aa3003549d
13:32911113 BRCA2 C>CT	13	32911113	32911114	C	CT	BRCA2	c.2622dup	NM_000059.4	NP_000050.3:p.(Val875CysfsTer6)	NC_000013.10:g.32911114dup	(Likely) pathogenic	1 lab	aa30eb527d
1:109808789 CELSR2 G>A	1	109808789	109808789	G	A	CELSR2	c.5974G>A	NM_001408.3	NP_001399.1:p.(Gly1992Arg)	NC_000001.10:g.109808789G>A	VUS	1 lab	aa481b3508
2:232156064 ARMC9 A>G	2	232156064	232156064	A	G	ARMC9	c.1627-2A>G	NM_025139.6	NP_079415.4:p.?	NC_000002.11:g.232156064A>G	(Likely) pathogenic	1 lab	aa484b0fd9
1:154558239 ADAR T>C	1	154558239	154558239	T	C	ADAR	c.2420A>G	NM_001193495.2	NP_001180424.1:p.(Asn807Ser)	NC_000001.10:g.154558239T>C	VUS	1 lab	aa4c14aabb
12:133250238 POLE C>T	12	133250238	133250238	C	T	POLE	c.1282G>A	NM_006231.4	NP_006222.2:p.(Ala428Thr)	NC_000012.11:g.133250238C>T	VUS	1 lab	aa50a7f687
11:66003412 PACS1 G>T	11	66003412	66003412	G	T	PACS1	c.2250+1G>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.66003412G>T	VUS	1 lab	aa52fe2f07
5:122435582 PRDM6 C>G	5	122435582	122435582	C	G	PRDM6	c.826C>G	NM_001136239.4	NP_001129711.1:p.(Pro276Ala)	NC_000005.9:g.122435582C>G	VUS	1 lab	aa538fd546
8:104394744 CTHRC1 T>C	8	104394744	104394744	T	C	CTHRC1	c.648T>C	NM_138455.4	NP_612464.1:p.(Gly216=)	NC_000008.10:g.104394744T>C	(Likely) benign	1 lab	aa5535f147
7:98573773 TRRAP C>G	7	98573773	98573773	C	G	TRRAP	c.7766C>G	NM_003496.4	NP_003487.1:p.(Thr2589Ser)	NC_000007.13:g.98573773C>G	VUS	1 lab	aa564d2abd
17:78063964 CCDC40 A>G	17	78063964	78063964	A	G	CCDC40	c.2859A>G	NM_001243342.2	NP_001230271.1:p.(Ala953=)	NC_000017.10:g.78063964A>G	(Likely) benign	1 lab	aa5d452051
20:42816012 JPH2 C>T	20	42816012	42816012	C	T	JPH2				NC_000020.10:g.42816012C>T	VUS	1 lab	aa656766c8
22:29095867 CHEK2 T>G	22	29095867	29095867	T	G	CHEK2	c.967A>C	NM_007194.4	NP_009125.1:p.(Thr323Pro)	NC_000022.10:g.29095867T>G	VUS	1 lab	aa66b5ed83
6:85457739 TBX18 C>T	6	85457739	85457739	C	T	TBX18	c.838G>A	NM_001080508.3	NP_001073977.1:p.(Asp280Asn)	NC_000006.11:g.85457739C>T	(Likely) benign	1 lab	aa6d5e541c
8:143956808 CYP11B1 A>C	8	143956808	143956808	A	C	CYP11B1	c.1122-80T>G	NM_000497.4	NP_000488.3:p.?	NC_000008.10:g.143956808A>C	(Likely) benign	1 lab	aa716535a9
13:48936995 RB1 C>T	13	48936995	48936995	C	T	RB1	c.763C>T	NM_000321.3	NP_000312.2:p.(Arg255Ter)	NC_000013.10:g.48936995C>T	(Likely) pathogenic	1 lab	aa73f4046d
2:220494924 SLC4A3 C>T	2	220494924	220494924	C	T	SLC4A3	c.742C>T	NM_201574.3	NP_963868.3:p.(Arg248Trp)	NC_000002.11:g.220494924C>T	(Likely) benign	1 lab	aa755896d4
17:73723481 ITGB4 C>G	17	73723481	73723481	C	G	ITGB4	c.163-4C>G	NM_001005731.3	NP_001005731.1:p.?	NC_000017.10:g.73723481C>G	(Likely) benign	1 lab	aa7af69226
7:151845438 KMT2C A>C	7	151845438	151845438	A	C	KMT2C	c.13574T>G	NM_170606.3	NP_733751.2:p.(Val4525Gly)	NC_000007.13:g.151845438A>C	VUS	1 lab	aa7ba62287
20:2380266 TGM6 C>T	20	2380266	2380266	C	T	TGM6	c.732C>T	NM_198994.3	NP_945345.2:p.(Gly244=)	NC_000020.10:g.2380266C>T	(Likely) benign	1 lab	aa82317863
16:28878730 SH2B1 C>A	16	28878730	28878730	C	A	SH2B1	c.1018C>A	NM_001145795.2	NP_001139267.1:p.(Arg340=)	NC_000016.9:g.28878730C>A	(Likely) benign	1 lab	aa8c5f413c
3:119128634 ARHGAP31 T>C	3	119128634	119128634	T	C	ARHGAP31	c.1926+11T>C	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119128634T>C	(Likely) benign	1 lab	aa946f6b64
19:41356281 CYP2A6 T>C	19	41356281	41356281	T	C	CYP2A6	c.51A>G	NM_000762.6	NP_000753.3:p.(Val17=)	NC_000019.9:g.41356281T>C	(Likely) benign	1 lab	aa9a5e8114
8:22864465 RHOBTB2 C>G	8	22864465	22864465	C	G	RHOBTB2	c.773C>G	NM_001160036.2	NP_001153508.1:p.(Pro258Arg)	NC_000008.10:g.22864465C>G	VUS	1 lab	aa9c3f7578
8:103226390 RRM2B A>C	8	103226390	103226390	A	C	RRM2B	c.685-4T>G	NM_015713.5	NP_056528.2:p.?	NC_000008.10:g.103226390A>C	(Likely) benign	1 lab	aa9d5d6c41
10:1126393 WDR37 A>G	10	1126393	1126393	A	G	WDR37	c.373A>G	NM_014023.4	NP_054742.2:p.(Thr125Ala)	NC_000010.10:g.1126393A>G	VUS	1 lab	aaa4ced60a
14:92583866 NDUFB1 C>G	14	92583866	92583866	C	G	NDUFB1	c.116G>C	NM_004545.4	NP_004536.3:p.(Arg39Pro)	NC_000014.8:g.92583866C>G	VUS	1 lab	aaa5ad5eff
11:2182210 INS G>A	11	2182210	2182210	G	A	INS	c.-9C>T	NM_000207.3	NP_000198.1:p.?	NC_000011.9:g.2182210G>A	(Likely) benign	1 lab	aa97a4b263
1:236912576 ACTN2 G>T	1	236912576	236912576	G	T	ACTN2	c.1032+12G>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236912576G>T	(Likely) benign	1 lab	aaaa8f2369
2:32477628 NLRC4 A>G	2	32477628	32477628	A	G	NLRC4	c.122T>C	NM_021209.4	NP_067032.3:p.(Ile41Thr)	NC_000002.11:g.32477628A>G	VUS	1 lab	aaad31862c
X:7193970 STS CT>C	X	7193970	7193987	CT	C	STS	c.807-5del	NM_000351.7	NP_000342.3:p.?	NC_000023.10:g.7193987del	(Likely) benign	1 lab	aaae9292ea
17:41246269 BRCA1 C>T	17	41246269	41246269	C	T	BRCA1	c.1279G>A	NM_007294.4	NP_009225.1:p.(Glu427Lys)	NC_000017.10:g.41246269C>T	VUS	1 lab	aab237e0a1
8:22926313 TNFRSF10B G>A	8	22926313	22926313	G	A	TNFRSF10B	c.95C>T	NM_003842.5	NP_003833.4:p.(Pro32Leu)	NC_000008.10:g.22926313G>A	(Likely) benign	1 lab	aab78a5766
6:143091179 HIVEP2 G>A	6	143091179	143091179	G	A	HIVEP2	c.4697C>T	NM_006734.4	NP_006725.3:p.(Ser1566Leu)	NC_000006.11:g.143091179G>A	VUS	1 lab	aab7e9093d
X:109931856 CHRDL1 T>C	X	109931856	109931856	T	C	CHRDL1	c.954A>G	NM_001143981.2	NP_001137453.1:p.(Lys318=)	NC_000023.10:g.109931856T>C	(Likely) benign	1 lab	aabae12f67
14:23871705 MYH6 C>G	14	23871705	23871705	C	G	MYH6	c.1109G>C	NM_002471.4	NP_002462.2:p.(Arg370Pro)	NC_000014.8:g.23871705C>G	VUS	1 lab	aabfbd0a67
19:7172340 INSR C>T	19	7172340	7172340	C	T	INSR	c.1229G>A	NM_000208.4	NP_000199.2:p.(Arg410Gln)	NC_000019.9:g.7172340C>T	VUS	1 lab	aac23cc597
11:47359005 MYBPC3 AGACGCGC>A	11	47359005	47359012	AGACGCGC	A	MYBPC3	c.2532_2538del	NM_000256.3	NP_000247.2:p.(Met844IlefsTer33)	NC_000011.9:g.47359006_47359012del	(Likely) pathogenic	1 lab	aac6110e18
7:42088126 GLI3 TG>T	7	42088126	42088128	TG	T	GLI3	c.642del	NM_000168.6	NP_000159.3:p.(Met215Ter)	NC_000007.13:g.42088128del	(Likely) pathogenic	1 lab	aac8ae5314
11:48161126 PTPRJ T>G	11	48161126	48161126	T	G	PTPRJ	c.2241T>G	NM_002843.4	NP_002834.3:p.(Asn747Lys)	NC_000011.9:g.48161126T>G	VUS	1 lab	aace0ec606
11:47360891 MYBPC3 C>A	11	47360891	47360891	C	A	MYBPC3	c.2132G>T	NM_000256.3	NP_000247.2:p.(Trp711Leu)	NC_000011.9:g.47360891C>A	VUS	1 lab	aacfbf45fb
2:179498247 TTN T>C	2	179498247	179498247	T	C	TTN	c.42839A>G	NM_001267550.2	NP_001254479.2:p.(Asp14280Gly)	NC_000002.11:g.179498247T>C	VUS	1 lab	aad07e517b
17:48667949 CACNA1G TACA>T	17	48667949	48667955	TACA	T	CACNA1G	c.2423_2425del	NM_018896.5	NP_061496.2:p.(Asn808del)	NC_000017.10:g.48667953_48667955del	VUS	1 lab	aad31db8b5
11:118371841 KMT2A C>T	11	118371841	118371841	C	T	KMT2A	c.6298C>T	NM_001197104.2	NP_001184033.1:p.(His2100Tyr)	NC_000011.9:g.118371841C>T	VUS	1 lab	aad6e22185
10:94405284 KIF11 TATCTC>T	10	94405284	94405290	TATCTC	T	KIF11	c.2434_2438del	NM_004523.4	NP_004514.2:p.(Ser812ArgfsTer3)	NC_000010.10:g.94405286_94405290del	(Likely) pathogenic	1 lab	aad938910e
19:17932138 INSL3 T>C	19	17932138	17932138	T	C	INSL3	c.178A>G	NM_001265587.2	NP_001252516.1:p.(Thr60Ala)	NC_000019.9:g.17932138T>C	(Likely) benign	1 lab	aade11c44c
13:32953974 BRCA2 C>A	13	32953974	32953974	C	A	BRCA2	c.9041C>A	NM_000059.4	NP_000050.3:p.(Ser3014Ter)	NC_000013.10:g.32953974C>A	(Likely) pathogenic	1 lab	aade5f4206
1:160326416 NCSTN G>A	1	160326416	160326416	G	A	NCSTN	c.1666G>A	NM_015331.3	NP_056146.1:p.(Ala556Thr)	NC_000001.10:g.160326416G>A	(Likely) benign	1 lab	aae3ec7672
X:69510335 KIF4A C>T	X	69510335	69510335	C	T	KIF4A	c.27C>T	NM_012310.5	NP_036442.3:p.(Pro9=)	NC_000023.10:g.69510335C>T	(Likely) benign	1 lab	aae5321349
12:6700852 CHD4 CAT>C	12	6700852	6700854	CAT	C	CHD4	c.3222+6_3222+7del	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6700853_6700854del	(Likely) benign	1 lab	aae6bfce3f
3:49759332 GMPPB G>GGCCTT	3	49759332	49759338	G	GGCCTT	GMPPB	c.1012_1016dup	NM_013334.4	NP_037466.3:p.(Tyr340ArgfsTer13)	NC_000003.11:g.49759334_49759338dup	VUS	1 lab	aaedf42ab3
6:24495214 ALDH5A1 T>C	6	24495214	24495214	T	C	ALDH5A1	c.-11T>C	NM_170740.1	NP_733936.1:p.?	NC_000006.11:g.24495214T>C	VUS	1 lab	aaf00aa3c2
13:32930610 BRCA2 G>A	13	32930610	32930610	G	A	BRCA2	c.7481G>A	NM_000059.4	NP_000050.3:p.(Arg2494Gln)	NC_000013.10:g.32930610G>A	(Likely) benign	1 lab	aaf25fedd3
X:84502595 ZNF711 G>A	X	84502595	84502595	G	A	ZNF711	c.17G>A	NM_021998.5	NP_068838.3:p.(Gly6Glu)	NC_000023.10:g.84502595G>A	VUS	1 lab	aaf3684dc6
16:89882826 FANCA C>T	16	89882826	89882826	C	T	FANCA	c.79+119G>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89882826C>T	(Likely) benign	1 lab	ab859322d8
2:215632314 BARD1 A>G	2	215632314	215632314	A	G	BARD1	c.1460T>C	NM_000465.4	NP_000456.2:p.(Val487Ala)	NC_000002.11:g.215632314A>G	VUS	1 lab	aafac5c7c8
10:127464230 MMP21 T>C	10	127464230	127464230	T	C	MMP21	c.161A>G	NM_147191.1	NP_671724.1:p.(Gln54Arg)	NC_000010.10:g.127464230T>C	VUS	1 lab	aafed371dd
5:76708987 PDE8B A>G	5	76708987	76708987	A	G	PDE8B	c.1764A>G	NM_003719.5	NP_003710.1:p.(Glu588=)	NC_000005.9:g.76708987A>G	(Likely) benign	1 lab	ab03b81ac7
2:179611675 TTN G>C	2	179611675	179611675	G	C	TTN	c.15452C>G	NM_133379.5	NP_596870.2:p.(Pro5151Arg)	NC_000002.11:g.179611675G>C	VUS	1 lab	ab05f3e992
5:156766093 CYFIP2 G>A	5	156766093	156766093	G	A	CYFIP2	c.2414G>A	NM_001037333.3	NP_001032410.1:p.(Arg805Gln)	NC_000005.9:g.156766093G>A	(Likely) benign	1 lab	ab05f457da
2:47705544 MSH2 AC>A	2	47705544	47705547	AC	A	MSH2	c.2347del	NM_000251.3	NP_000242.1:p.(His783IlefsTer29)	NC_000002.11:g.47705547del	(Likely) pathogenic	1 lab	ab0b169d23
6:32827281 PSMB9 A>G	6	32827281	32827281	A	G	PSMB9	c.632A>G	NM_002800.5	NP_002791.1:p.(Asn211Ser)	NC_000006.11:g.32827281A>G	VUS	1 lab	ab0be23cc2
1:211192482 KCNH1 C>A	1	211192482	211192482	C	A	KCNH1	c.675G>T	NM_172362.3	NP_758872.1:p.(Leu225Phe)	NC_000001.10:g.211192482C>A	VUS	1 lab	ab0e76a508
12:52308279 ACVRL1 G>A	12	52308279	52308279	G	A	ACVRL1	c.682G>A	NM_000020.3	NP_000011.2:p.(Val228Ile)	NC_000012.11:g.52308279G>A	VUS	1 lab	ab0f794812
11:103022842 DYNC2H1 G>GT	11	103022842	103022855	G	GT	DYNC2H1	c.2947-10dup	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103022855dup	(Likely) benign	1 lab	ab17c712d4
17:80051183 FASN A>G	17	80051183	80051183	A	G	FASN	c.567T>C	NM_004104.5	NP_004095.4:p.(Asn189=)	NC_000017.10:g.80051183A>G	(Likely) benign	1 lab	ab196779d6
4:114081490 ANK2 A>G	4	114081490	114081490	A	G	ANK2	c.85-14082A>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114081490A>G	(Likely) benign	1 lab	ab1a2557c0
2:175432754 WIPF1 G>A	2	175432754	175432754	G	A	WIPF1	c.1177C>T	NM_001077269.1	NP_001070737.1:p.(Arg393Trp)	NC_000002.11:g.175432754G>A	VUS	1 lab	ab1aa6c547
6:112510295 LAMA4 T>C	6	112510295	112510295	T	C	LAMA4	c.814+17A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112510295T>C	VUS	1 lab	ab1acd4a72
14:67635754 GPHN G>A	14	67635754	67635754	G	A	GPHN	c.2079+1G>A	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67635754G>A	(Likely) pathogenic	1 lab	ab1ade8bec
X:99662356 PCDH19 C>T	X	99662356	99662356	C	T	PCDH19	c.1240G>A	NM_001184880.2	NP_001171809.1:p.(Glu414Lys)	NC_000023.10:g.99662356C>T	VUS	1 lab	ab1bf39ea6
10:30629364 MTPAP C>T	10	30629364	30629364	C	T	MTPAP	c.346G>A	NM_018109.4	NP_060579.3:p.(Val116Ile)	NC_000010.10:g.30629364C>T	VUS	1 lab	ab1cb1f890
17:29546094 NF1 C>T	17	29546094	29546094	C	T	NF1	c.1599C>T	NM_000267.3	NP_000258.1:p.(Val533=)	NC_000017.10:g.29546094C>T	(Likely) benign	1 lab	ab1fc45bdd
1:27879441 AHDC1 C>T	1	27879441	27879441	C	T	AHDC1	c.-112-1G>A	NM_001029882.3	NP_001025053.1:p.?	NC_000001.10:g.27879441C>T	VUS	1 lab	ab874d3753
12:49433365 KMT2D C>G	12	49433365	49433365	C	G	KMT2D	c.8082G>C	NM_003482.4	NP_003473.3:p.(Gln2694His)	NC_000012.11:g.49433365C>G	VUS	1 lab	ab26cc8ef3
6:157502140 ARID1B C>T	6	157502140	157502140	C	T	ARID1B	c.3422C>T	NM_001371656.1	NP_001358585.1:p.(Thr1141Met)	NC_000006.11:g.157502140C>T	VUS	1 lab	ab28c70409
X:18911604 PHKA2 T>C	X	18911604	18911604	T	C	PHKA2				NC_000023.10:g.18911604T>C	(Likely) pathogenic	1 lab	ab2935e44c
16:85682354 GSE1 G>A	16	85682354	85682354	G	A	GSE1	c.423G>A	NM_014615.5	NP_055430.1:p.(Arg141=)	NC_000016.9:g.85682354G>A	(Likely) benign	1 lab	ab2dc1223f
11:27679662 BDNF T>C	11	27679662	27679662	T	C	BDNF	c.450=	NM_170735.6	NP_733931.1:p.(Ala150=)	NC_000011.9:g.27679662T>C	(Likely) benign	1 lab	ab335e63df
5:256549 SDHA G>A	5	256549	256549	G	A	SDHA	c.*14G>A	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.256549G>A	(Likely) benign	1 lab	ab3937fd71
9:104133297 BAAT C>A	9	104133297	104133297	C	A	BAAT	c.390G>T	NM_001701.4	NP_001692.1:p.(Arg130Ser)	NC_000009.11:g.104133297C>A	(Likely) pathogenic	1 lab	ab3c900bf0
2:179454238 TTN A>C	2	179454238	179454238	A	C	TTN	c.57291T>G	NM_001256850.1	NP_001243779.1:p.(Ile19097Met)	NC_000002.11:g.179454238A>C	VUS	1 lab	ab3e5dd5b8
11:111965608 SDHD T>G	11	111965608	111965608	T	G	SDHD	c.394T>G	NM_003002.4	NP_002993.1:p.(Ser132Ala)	NC_000011.9:g.111965608T>G	VUS	1 lab	ab4a398d21
8:145013584 PLEC G>A	8	145013584	145013584	G	A	PLEC	c.194-724C>T	NM_000445.5	NP_000436.2:p.?	NC_000008.10:g.145013584G>A	(Likely) pathogenic	1 lab	ab4e9fa68b
11:14316397 RRAS2 C>T	11	14316397	14316397	C	T	RRAS2	c.208G>A	NM_012250.6	NP_036382.2:p.(Ala70Thr)	NC_000011.9:g.14316397C>T	(Likely) pathogenic	1 lab	ab50124f4d
2:48026789 MSH6 A>T	2	48026789	48026789	A	T	MSH6	c.1667A>T	NM_000179.3	NP_000170.1:p.(Tyr556Phe)	NC_000002.11:g.48026789A>T	VUS	1 lab	ab50ae5804
11:71148915 DHCR7 G>C	11	71148915	71148915	G	C	DHCR7	c.906C>G	NM_001360.3	NP_001351.2:p.(Phe302Leu)	NC_000011.9:g.71148915G>C	(Likely) pathogenic	1 lab	ab5126b136
6:33272813 TAPBP T>G	6	33272813	33272813	T	G	TAPBP	c.821A>C	NM_003190.5	NP_003181.3:p.(His274Pro)	NC_000006.11:g.33272813T>G	(Likely) benign	1 lab	ab52cdf733
3:25659929 TOP2B A>T	3	25659929	25659929	A	T	TOP2B	c.3316T>A	NM_001068.3	NP_001059.2:p.(Trp1106Arg)	NC_000003.11:g.25659929A>T	VUS	1 lab	ab543a004e
18:21134704 NPC1 T>C	18	21134704	21134704	T	C	NPC1	c.1553+18A>G	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21134704T>C	(Likely) benign	1 lab	ab5482a086
6:51586772 PKHD1 C>T	6	51586772	51586772	C	T	PKHD1	c.*12G>A	NM_170724.3	NP_733842.2:p.?	NC_000006.11:g.51586772C>T	(Likely) benign	1 lab	ab55a6d7f5
5:52355854 ITGA2 T>C	5	52355854	52355854	T	C	ITGA2	c.1312+12T>C	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52355854T>C	(Likely) benign	1 lab	ab58fbbf9f
4:126355435 FAT4 G>A	4	126355435	126355435	G	A	FAT4	c.7054G>A	NM_024582.6	NP_078858.4:p.(Val2352Ile)	NC_000004.11:g.126355435G>A	VUS	1 lab	ab5d5a43e8
14:77492283 IRF2BPL TG>T	14	77492283	77492289	TG	T	IRF2BPL	c.1852del	NM_024496.4	NP_078772.1:p.(Gln618ArgfsTer62)	NC_000014.8:g.77492289del	(Likely) pathogenic	1 lab	ab5e473460
4:77662092 SHROOM3 C>T	4	77662092	77662092	C	T	SHROOM3	c.2766C>T	NM_020859.4	NP_065910.3:p.(Arg922=)	NC_000004.11:g.77662092C>T	(Likely) benign	1 lab	ab5ea5acd8
9:140772477 CACNA1B G>A	9	140772477	140772477	G	A	CACNA1B	c.92G>A	NM_000718.4	NP_000709.1:p.(Gly31Asp)	NC_000009.11:g.140772477G>A	VUS	1 lab	ab60379da2
13:32900287 BRCA2 G>A	13	32900287	32900287	G	A	BRCA2	c.475G>A	NM_000059.4	NP_000050.3:p.(Val159Met)	NC_000013.10:g.32900287G>A	(Likely) pathogenic	1 lab	ab60b104f9
3:130711836 ATP2C1 AATT>A	3	130711836	130711843	AATT	A	ATP2C1	c.1886_1888del	NM_001199179.3	NP_001186108.1:p.(Ile629del)	NC_000003.11:g.130711841_130711843del	VUS	1 lab	ab620bbe48
5:154287369 GEMIN5 C>T	5	154287369	154287369	C	T	GEMIN5	c.2177G>A	NM_015465.5	NP_056280.2:p.(Ser726Asn)	NC_000005.9:g.154287369C>T	VUS	1 lab	ab63d95d81
15:43821545 MAP1A G>A	15	43821545	43821545	G	A	MAP1A	c.7874G>A	NM_002373.6	NP_002364.5:p.(Arg2625Gln)	NC_000015.9:g.43821545G>A	VUS	1 lab	ab63f3c710
2:25457248 DNMT3A ATGTT>A	2	25457248	25457252	ATGTT	A	DNMT3A	c.2635_2638del	NM_175629.2	NP_783328.1:p.(Asn879Ter)	NC_000002.11:g.25457249_25457252del	(Likely) pathogenic	1 lab	ab652656c1
18:34232803 FHOD3 C>T	18	34232803	34232803	C	T	FHOD3	c.1197-5235C>T	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34232803C>T	(Likely) benign	1 lab	ab6947a56e
3:57232244 HESX1 T>C	3	57232244	57232244	T	C	HESX1	c.539A>G	NM_003865.3	NP_003856.1:p.(Asn180Ser)	NC_000003.11:g.57232244T>C	(Likely) benign	1 lab	ab6aea6053
2:179448967 TTN A>AAAC	2	179448967	179448981	A	AAAC	TTN	c.65275+33_65275+35dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448979_179448981dup	(Likely) benign	1 lab	ab6d38243e
6:29912852 HLA-A T>C	6	29912852	29912852	T	C	HLA-A	c.1029T>C	NM_002116.8	NP_002107.3:p.(Ser343=)	NC_000006.11:g.29912852T>C	(Likely) benign	1 lab	ab6ebaab1a
10:102750730 TWNK A>G	10	102750730	102750730	A	G	TWNK	c.1697A>G	NM_021830.5	NP_068602.2:p.(Lys566Arg)	NC_000010.10:g.102750730A>G	VUS	1 lab	ab717933bd
10:92675935 ANKRD1 CG>C	10	92675935	92675938	CG	C	ANKRD1	c.643del	NM_014391.3	NP_055206.2:p.(Arg215GlufsTer13)	NC_000010.10:g.92675938del	VUS	1 lab	ab874eee9f
1:74819697 TNNI3K G>A	1	74819697	74819697	G	A	TNNI3K	c.1061G>A	NM_015978.3	NP_057062.1:p.(Arg354His)	NC_000001.10:g.74819697G>A	VUS	1 lab	ab8a0a4ada
6:7584433 DSP A>AG	6	7584433	7584435	A	AG	DSP	c.6940dup	NM_004415.4	NP_004406.2:p.(Glu2314GlyfsTer11)	NC_000006.11:g.7584435dup	(Likely) pathogenic	1 lab	ab91cc7c35
10:72360265 PRF1 C>T	10	72360265	72360265	C	T	PRF1	c.394G>A	NM_001083116.3	NP_001076585.1:p.(Gly132Arg)	NC_000010.10:g.72360265C>T	(Likely) pathogenic	1 lab	ab92662f55
18:55273866 NARS1 T>C	18	55273866	55273866	T	C	NARS1	c.1119A>G	NM_004539.4	NP_004530.1:p.(Ile373Met)	NC_000018.9:g.55273866T>C	VUS	1 lab	ab96628be7
2:179413095 TTN G>T	2	179413095	179413095	G	T	TTN	c.93258C>A	NM_001267550.2	NP_001254479.2:p.(Tyr31086Ter)	NC_000002.11:g.179413095G>T	(Likely) pathogenic	1 lab	ab992accdf
3:24270440 THRB T>C	3	24270440	24270440	T	C	THRB	c.11A>G	NM_000461.5	NP_000452.2:p.(Asn4Ser)	NC_000003.11:g.24270440T>C	VUS	1 lab	ab9af49368
15:93487646 CHD2 T>G	15	93487646	93487646	T	G	CHD2	c.1054T>G	NM_001271.4	NP_001262.3:p.(Leu352Val)	NC_000015.9:g.93487646T>G	VUS	1 lab	ab9f2c910e
2:179436870 TTN C>T	2	179436870	179436870	C	T	TTN	c.73989G>A	NM_001267550.2	NP_001254479.2:p.(Trp24663Ter)	NC_000002.11:g.179436870C>T	(Likely) pathogenic	1 lab	aba62211d0
2:152422087 NEB A>G	2	152422087	152422087	A	G	NEB	c.18294T>C	NM_001271208.2	NP_001258137.2:p.(Tyr6098=)	NC_000002.11:g.152422087A>G	(Likely) benign	1 lab	aba705a028
X:31792115 DMD C>T	X	31792115	31792115	C	T	DMD	c.7504G>A	NM_004006.3	NP_003997.2:p.(Asp2502Asn)	NC_000023.10:g.31792115C>T	VUS	1 lab	aba7a82529
19:4554435 SEMA6B GGAA>G	19	4554435	4554445	GGAA	G	SEMA6B	c.733_735del	NM_032108.4	NP_115484.2:p.(Phe245del)	NC_000019.9:g.4554443_4554445del	VUS	1 lab	aba8290e41
12:133219841 POLE T>C	12	133219841	133219841	T	C	POLE	c.4520A>G	NM_006231.4	NP_006222.2:p.(Gln1507Arg)	NC_000012.11:g.133219841T>C	VUS	1 lab	abaa711bde
8:41798419 KAT6A GCTC>G	8	41798419	41798434	GCTC	G	KAT6A	c.2977_2979del	NM_006766.5	NP_006757.2:p.(Glu993del)	NC_000008.10:g.41798432_41798434del	VUS	1 lab	abb3b96080
7:151879077 KMT2C GGAA>G	7	151879077	151879086	GGAA	G	KMT2C	c.5865_5867del	NM_170606.3	NP_733751.2:p.(Ser1956del)	NC_000007.13:g.151879084_151879086del	VUS	1 lab	abb90318da
2:179588581 TTN A>AC	2	179588581	179588583	A	AC	TTN	c.21403+1dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179588583dup	VUS	1 lab	abbe4f80cc
3:9876512 TTLL3 T>C	3	9876512	9876512	T	C	TTLL3	c.2273T>C	NM_001025930.5	NP_001021100.3:p.(Leu758Pro)	NC_000003.11:g.9876512T>C	VUS	1 lab	abc54a2201
6:16145436 MYLIP G>A	6	16145436	16145436	G	A	MYLIP	c.1136G>A	NM_013262.4	NP_037394.2:p.(Arg379His)	NC_000006.11:g.16145436G>A	(Likely) benign	1 lab	abc691a9d8
11:32456361 WT1 G>T	11	32456361	32456361	G	T	WT1	c.546C>A	NM_024426.6	NP_077744.4:p.(Tyr182Ter)	NC_000011.9:g.32456361G>T	(Likely) pathogenic	1 lab	abc818d3f8
16:78148935 WWOX C>T	16	78148935	78148935	C	T	WWOX	c.293C>T	NM_016373.4	NP_057457.1:p.(Pro98Leu)	NC_000016.9:g.78148935C>T	(Likely) benign	1 lab	abcd85580f
12:6128632 VWF C>T	12	6128632	6128632	C	T	VWF	c.3952G>A	NM_000552.5	NP_000543.3:p.(Val1318Met)	NC_000012.11:g.6128632C>T	VUS	1 lab	abd35e08ff
9:138587076 SOHLH1 C>T	9	138587076	138587076	C	T	SOHLH1	c.695G>A	NM_001101677.2	NP_001095147.2:p.(Arg232Gln)	NC_000009.11:g.138587076C>T	VUS	1 lab	abddd9e48c
X:99662986 PCDH19 A>C	X	99662986	99662986	A	C	PCDH19	c.610T>G	NM_001184880.2	NP_001171809.1:p.(Tyr204Asp)	NC_000023.10:g.99662986A>C	(Likely) pathogenic	1 lab	abee265d69
6:1611203 FOXC1 A>G	6	1611203	1611203	A	G	FOXC1	c.523A>G	NM_001453.3	NP_001444.2:p.(Lys175Glu)	NC_000006.11:g.1611203A>G	VUS	1 lab	abf536dd56
X:31165541 DMD G>A	X	31165541	31165541	G	A	DMD	c.10648C>T	NM_004006.3	NP_003997.2:p.(Pro3550Ser)	NC_000023.10:g.31165541G>A	VUS	1 lab	abfd71f6ae
X:133527632 PHF6 A>C	X	133527632	133527632	A	C	PHF6	c.342A>C	NM_032458.3	NP_115834.1:p.(Gln114His)	NC_000023.10:g.133527632A>C	VUS	1 lab	abff95d5ca
6:162206825 PRKN C>G	6	162206825	162206825	C	G	PRKN	c.850G>C	NM_004562.3	NP_004553.2:p.(Gly284Arg)	NC_000006.11:g.162206825C>G	(Likely) pathogenic	1 lab	ac03472102
15:23059394 NIPA1 C>T	15	23059394	23059394	C	T	NIPA1	c.317+1421G>A	NM_144599.5	NP_653200.2:p.?	NC_000015.9:g.23059394C>T	(Likely) benign	1 lab	ac0494fe42
18:31323413 ASXL3 C>A	18	31323413	31323413	C	A	ASXL3	c.3601C>A	NM_030632.3	NP_085135.1:p.(His1201Asn)	NC_000018.9:g.31323413C>A	VUS	1 lab	ac068c84b0
19:10116548 COL5A3 C>T	19	10116548	10116548	C	T	COL5A3	c.361G>A	NM_015719.4	NP_056534.2:p.(Ala121Thr)	NC_000019.9:g.10116548C>T	VUS	1 lab	ac08618d13
X:119589340 LAMP2 A>T	X	119589340	119589340	A	T	LAMP2	c.269T>A	NM_002294.3	NP_002285.1:p.(Val90Glu)	NC_000023.10:g.119589340A>T	VUS	1 lab	ac08af518d
18:25573585 CDH2 G>A	18	25573585	25573585	G	A	CDH2	c.1037C>T	NM_001792.5	NP_001783.2:p.(Thr346Met)	NC_000018.9:g.25573585G>A	VUS	1 lab	ac08d0b813
17:78092040 GAA G>T	17	78092040	78092040	G	T	GAA	c.2530G>T	NM_000152.5	NP_000143.2:p.(Ala844Ser)	NC_000017.10:g.78092040G>T	VUS	1 lab	ac0c5df15a
15:40265870 EIF2AK4 C>CA	15	40265870	40265871	C	CA	EIF2AK4	c.1739dup	NM_001013703.4	NP_001013725.2:p.(Arg581GlufsTer9)	NC_000015.9:g.40265871dup	(Likely) pathogenic	1 lab	ac129697cb
14:74968163 LTBP2 C>T	14	74968163	74968163	C	T	LTBP2	c.5301G>A	NM_000428.3	NP_000419.1:p.(Ala1767=)	NC_000014.8:g.74968163C>T	(Likely) benign	1 lab	ac15b38052
8:61761133 CHD7 C>T	8	61761133	61761133	C	T	CHD7	c.5270C>T	NM_017780.4	NP_060250.2:p.(Ala1757Val)	NC_000008.10:g.61761133C>T	(Likely) benign	1 lab	ac1e6383d2
X:107406175 COL4A6 C>T	X	107406175	107406175	C	T	COL4A6	c.4166G>A	NM_001847.4	NP_001838.2:p.(Gly1389Asp)	NC_000023.10:g.107406175C>T	VUS	1 lab	ac1fa64e10
19:11242010 LDLR C>T	19	11242010	11242010	C	T	LDLR	c.*18C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242010C>T	(Likely) benign	1 lab	acf957fecc
2:71012604 FIGLA G>A	2	71012604	71012604	G	A	FIGLA	c.552C>T	NM_001004311.3	NP_001004311.2:p.(His184=)	NC_000002.11:g.71012604G>A	(Likely) benign	1 lab	ac26a6c59d
3:78711180 ROBO1 G>T	3	78711180	78711180	G	T	ROBO1	c.2051C>A	NM_002941.4	NP_002932.1:p.(Thr684Asn)	NC_000003.11:g.78711180G>T	VUS	1 lab	ac26bdd060
2:145147275 ZEB2 T>A	2	145147275	145147275	T	A	ZEB2	c.3388A>T	NM_014795.4	NP_055610.1:p.(Met1130Leu)	NC_000002.11:g.145147275T>A	VUS	1 lab	ac274baba9
17:57288787 SMG8 G>A	17	57288787	57288787	G	A	SMG8	c.1375G>A	NM_018149.7	NP_060619.4:p.(Ala459Thr)	NC_000017.10:g.57288787G>A	VUS	1 lab	ac296ecce3
17:38245743 THRA TG>T	17	38245743	38245747	TG	T	THRA	c.*38del	NM_199334.5	NP_955366.1:p.?	NC_000017.10:g.38245747del	VUS	1 lab	ac309aa60a
22:51159409 SHANK3 T>TC	22	51159409	51159412	T	TC	SHANK3	c.3376dup	NM_001372044.2	NP_001358973.1:p.(Arg1126ProfsTer245)	NC_000022.10:g.51159412dup	(Likely) pathogenic	1 lab	ac356171bf
20:62659937 PRPF6 C>T	20	62659937	62659937	C	T	PRPF6	c.2431+15C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62659937C>T	(Likely) benign	1 lab	ac35b85c56
17:41234556 BRCA1 G>A	17	41234556	41234556	G	A	BRCA1	c.4222C>T	NM_007294.4	NP_009225.1:p.(Gln1408Ter)	NC_000017.10:g.41234556G>A	(Likely) pathogenic	1 lab	ac36718083
10:75632760 CAMK2G C>T	10	75632760	75632760	C	T	CAMK2G	c.147G>A	NM_172171.3	NP_751911.1:p.(Lys49=)	NC_000010.10:g.75632760C>T	(Likely) benign	1 lab	ac39c53402
3:38660585 SCN5A T>G	3	38660585	38660585	T	G	SCN5A	c.611+1749A>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38660585T>G	VUS	1 lab	ac3a8183c8
X:50658966 BMP15 G>A	X	50658966	50658966	G	A	BMP15	c.538G>A	NM_005448.2	NP_005439.2:p.(Ala180Thr)	NC_000023.10:g.50658966G>A	(Likely) benign	1 lab	ac458f93a1
2:179436630 TTN AG>A	2	179436630	179436633	AG	A	TTN	c.74228del	NM_001267550.2	NP_001254479.2:p.(Pro24743LeufsTer5)	NC_000002.11:g.179436633del	(Likely) pathogenic	1 lab	ac48deac6e
7:87072708 ABCB4 A>T	7	87072708	87072708	A	T	ABCB4	c.1283T>A	NM_000443.4	NP_000434.1:p.(Val428Asp)	NC_000007.13:g.87072708A>T	(Likely) pathogenic	1 lab	ac495c1839
17:65955758 BPTF T>TCCTCCAGCCCCTCCAGCCCCTCCAGCC	17	65955758	65955783	T	TCCTCCAGCCCCTCCAGCCCCTCCAGCC	BPTF	c.8001_8002insGCCCCTCCAGCCCCTCCAGCCCCTCCA	NM_004459.7	NP_004450.3:p.(Ala2659_Pro2667dup)	NC_000017.10:g.65955782_65955783insGCCCCTCCAGCCCCTCCAGCCCCTCCA	(Likely) benign	1 lab	ac4a7d5349
5:60825930 ZSWIM6 G>T	5	60825930	60825930	G	T	ZSWIM6	c.1889G>T	NM_020928.2	NP_065979.1:p.(Gly630Val)	NC_000005.9:g.60825930G>T	VUS	1 lab	ac4ac59bab
1:16260606 SPEN G>A	1	16260606	16260606	G	A	SPEN	c.7871G>A	NM_015001.3	NP_055816.2:p.(Arg2624Gln)	NC_000001.10:g.16260606G>A	(Likely) benign	1 lab	ac563495f2
17:62492759 POLG2 G>C	17	62492759	62492759	G	C	POLG2	c.328C>G	NM_007215.4	NP_009146.2:p.(Leu110Val)	NC_000017.10:g.62492759G>C	(Likely) benign	1 lab	ac585cc317
3:38597127 SCN5A A>G	3	38597127	38597127	A	G	SCN5A	c.4542+20T>C	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38597127A>G	(Likely) benign	1 lab	ac5d3902a4
13:103527849 ERCC5 G>C	13	103527849	103527849	G	C	ERCC5	c.3157G>C	NM_000123.4	NP_000114.3:p.(Gly1053Arg)	NC_000013.10:g.103527849G>C	(Likely) benign	1 lab	ac5e906ae1
X:48933387 WDR45 G>T	X	48933387	48933387	G	T	WDR45	c.545C>A	NM_007075.4	NP_009006.2:p.(Thr182Asn)	NC_000023.10:g.48933387G>T	VUS	1 lab	ac60297a5c
3:52415806 DNAH1 G>A	3	52415806	52415806	G	A	DNAH1	c.7759G>A	NM_015512.5	NP_056327.4:p.(Val2587Met)	NC_000003.11:g.52415806G>A	VUS	1 lab	ac60c70099
11:66009061 PACS1 G>C	11	66009061	66009061	G	C	PACS1	c.2593G>C	NM_018026.4	NP_060496.2:p.(Gly865Arg)	NC_000011.9:g.66009061G>C	(Likely) benign	1 lab	ac61cc595c
2:179398917 TTN A>G	2	179398917	179398917	A	G	TTN	c.102425T>C	NM_001267550.2	NP_001254479.2:p.(Ile34142Thr)	NC_000002.11:g.179398917A>G	VUS	1 lab	ac68f6e3f1
3:150910331 MED12L T>G	3	150910331	150910331	T	G	MED12L	c.1969-946T>G	NM_053002.5	NP_443728.3:p.?	NC_000003.11:g.150910331T>G	(Likely) benign	1 lab	ac72c8001d
9:711250 KANK1 C>T	9	711250	711250	C	T	KANK1	c.484C>T	NM_001256877.3	NP_001243806.1:p.(Arg162Trp)	NC_000009.11:g.711250C>T	VUS	1 lab	ac734fefeb
1:27276590 KDF1 C>T	1	27276590	27276590	C	T	KDF1	c.1167G>A	NM_152365.3	NP_689578.2:p.(Ser389=)	NC_000001.10:g.27276590C>T	(Likely) benign	1 lab	ac8151abfb
22:21346654 LZTR1 C>T	22	21346654	21346654	C	T	LZTR1	c.1145C>T	NM_006767.4	NP_006758.2:p.(Ser382Leu)	NC_000022.10:g.21346654C>T	VUS	1 lab	ac8b516479
16:28877672 SH2B1 C>A	16	28877672	28877672	C	A	SH2B1	c.257C>A	NM_001145795.2	NP_001139267.1:p.(Ser86Tyr)	NC_000016.9:g.28877672C>A	VUS	1 lab	ac92bd7925
1:234743317 IRF2BP2 C>T	1	234743317	234743317	C	T	IRF2BP2	c.1330G>A	NM_182972.3	NP_892017.2:p.(Ala444Thr)	NC_000001.10:g.234743317C>T	(Likely) benign	1 lab	ac9305920c
2:234669112 UGT1A1 T>C	2	234669112	234669112	T	C	UGT1A1	c.179T>C	NM_000463.3	NP_000454.1:p.(Leu60Pro)	NC_000002.11:g.234669112T>C	VUS	1 lab	ac96dc594c
2:26101079 ASXL2 C>T	2	26101079	26101079	C	T	ASXL2	c.13G>A	NM_018263.6	NP_060733.4:p.(Gly5Arg)	NC_000002.11:g.26101079C>T	(Likely) benign	1 lab	ac98dd8dd6
19:42855414 MEGF8 C>T	19	42855414	42855414	C	T	MEGF8	c.2582C>T	NM_001410.3	NP_001401.2:p.(Ala861Val)	NC_000019.9:g.42855414C>T	VUS	1 lab	aca00425ee
16:731251 STUB1 C>G	16	731251	731251	C	G	STUB1	c.259C>G	NM_005861.4	NP_005852.2:p.(Leu87Val)	NC_000016.9:g.731251C>G	VUS	1 lab	acae0e0e00
7:150644474 KCNH2 G>A	7	150644474	150644474	G	A	KCNH2	c.3094C>T	NM_000238.4	NP_000229.1:p.(Arg1032Trp)	NC_000007.13:g.150644474G>A	VUS	1 lab	acb3f2bd14
8:105441845 DPYS G>A	8	105441845	105441845	G	A	DPYS	c.878C>T	NM_001385.3	NP_001376.1:p.(Ala293Val)	NC_000008.10:g.105441845G>A	VUS	1 lab	acb4c51994
12:13906509 GRIN2B C>T	12	13906509	13906509	C	T	GRIN2B	c.752G>A	NM_000834.5	NP_000825.2:p.(Gly251Asp)	NC_000012.11:g.13906509C>T	VUS	1 lab	acb56bc344
1:17312811 ATP13A2 G>A	1	17312811	17312811	G	A	ATP13A2	c.3433C>T	NM_001141973.3	NP_001135445.1:p.(Arg1145Trp)	NC_000001.10:g.17312811G>A	VUS	1 lab	acb810d342
3:48625790 COL7A1 C>CGCG	3	48625790	48625793	C	CGCG	COL7A1	c.2632_2634dup	NM_000094.4	NP_000085.1:p.(Arg878dup)	NC_000003.11:g.48625791_48625793dup	VUS	1 lab	acc08798cb
X:153220476 HCFC1 G>A	X	153220476	153220476	G	A	HCFC1	c.3374C>T	NM_005334.3	NP_005325.2:p.(Ser1125Leu)	NC_000023.10:g.153220476G>A	VUS	1 lab	acc8ad3297
7:150439553 GIMAP5 C>T	7	150439553	150439553	C	T	GIMAP5	c.326C>T	NM_018384.5	NP_060854.2:p.(Pro109Leu)	NC_000007.13:g.150439553C>T	VUS	1 lab	acc9656abf
16:23646214 PALB2 A>T	16	23646214	23646214	A	T	PALB2	c.1653T>A	NM_024675.4	NP_078951.2:p.(Tyr551Ter)	NC_000016.9:g.23646214A>T	(Likely) pathogenic	1 lab	acc98fcb1a
19:6712580 C3 T>C	19	6712580	6712580	T	C	C3	c.1058A>G	NM_000064.4	NP_000055.2:p.(Tyr353Cys)	NC_000019.9:g.6712580T>C	VUS	1 lab	accbc07c0e
1:3328239 PRDM16 C>T	1	3328239	3328239	C	T	PRDM16	c.1478C>T	NM_022114.4	NP_071397.3:p.(Pro493Leu)	NC_000001.10:g.3328239C>T	VUS	1 lab	acd30ca66f
3:37053561 MLH1 TC>T	3	37053561	37053562	TC	T	MLH1	c.649del	NM_000249.4	NP_000240.1:p.(Arg217AlafsTer12)	NC_000003.11:g.37053562del	(Likely) pathogenic	1 lab	acd65c4af2
19:13084309 DAND5 T>C	19	13084309	13084309	T	C	DAND5	c.431T>C	NM_152654.3	NP_689867.1:p.(Leu144Pro)	NC_000019.9:g.13084309T>C	VUS	1 lab	ad7c59f94e
5:14290805 TRIO G>A	5	14290805	14290805	G	A	TRIO	c.541-20G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14290805G>A	(Likely) benign	1 lab	acde380b57
7:107198405 COG5 A>T	7	107198405	107198405	A	T	COG5	c.234+16T>A	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.107198405A>T	(Likely) benign	1 lab	ace418b665
21:45432394 TRAPPC10 C>T	21	45432394	45432394	C	T	TRAPPC10	c.20C>T	NM_003274.5	NP_003265.3:p.(Pro7Leu)	NC_000021.8:g.45432394C>T	(Likely) benign	1 lab	ace9d8ac26
3:33118631 GLB1 G>A	3	33118631	33118631	G	A	GLB1	c.76-4426C>T	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33118631G>A	(Likely) benign	1 lab	acec6e7bed
9:139405192 NOTCH1 G>A	9	139405192	139405192	G	A	NOTCH1	c.2653C>T	NM_017617.5	NP_060087.3:p.(Gln885Ter)	NC_000009.11:g.139405192G>A	(Likely) pathogenic	1 lab	acec949efe
21:47532280 COL6A2 G>T	21	47532280	47532280	G	T	COL6A2	c.503G>T	NM_001849.4	NP_001840.3:p.(Ser168Ile)	NC_000021.8:g.47532280G>T	VUS	1 lab	acee5c0566
8:23185909 LOXL2 G>A	8	23185909	23185909	G	A	LOXL2	c.1136C>T	NM_002318.3	NP_002309.1:p.(Ser379Phe)	NC_000008.10:g.23185909G>A	VUS	1 lab	acee93f4ae
2:179426366 TTN G>C	2	179426366	179426366	G	C	TTN	c.84493C>G	NM_001267550.2	NP_001254479.2:p.(His28165Asp)	NC_000002.11:g.179426366G>C	VUS	1 lab	acef863785
10:79745718 POLR3A C>T	10	79745718	79745718	C	T	POLR3A	c.3014G>A	NM_007055.4	NP_008986.2:p.(Arg1005His)	NC_000010.10:g.79745718C>T	(Likely) pathogenic	1 lab	acf40f311a
10:79163700 KCNMA1 C>A	10	79163700	79163700	C	A	KCNMA1	c.460G>T	NM_002247.4	NP_002238.2:p.(Ala154Ser)	NC_000010.10:g.79163700C>A	VUS	1 lab	acf938a01d
7:33397518 BBS9 G>C	7	33397518	33397518	G	C	BBS9	c.1604G>C	NM_198428.3	NP_940820.1:p.(Cys535Ser)	NC_000007.13:g.33397518G>C	VUS	1 lab	acfab7babe
1:244218354 ZBTB18 G>C	1	244218354	244218354	G	C	ZBTB18	c.1251G>C	NM_006352.4	NP_006343.2:p.(Lys417Asn)	NC_000001.10:g.244218354G>C	VUS	1 lab	ad0426260f
18:50994336 DCC G>A	18	50994336	50994336	G	A	DCC	c.3692G>A	NM_005215.4	NP_005206.2:p.(Arg1231Gln)	NC_000018.9:g.50994336G>A	VUS	1 lab	ad05bbfacb
18:28662347 DSC2 A>C	18	28662347	28662347	A	C	DSC2	c.1120T>G	NM_024422.6	NP_077740.1:p.(Leu374Val)	NC_000018.9:g.28662347A>C	VUS	1 lab	ad0b1ccaca
12:33031180 PKP2 G>T	12	33031180	33031180	G	T	PKP2	c.634C>A	NM_004572.4	NP_004563.2:p.(Arg212Ser)	NC_000012.11:g.33031180G>T	VUS	1 lab	ad0c5e798f
22:42607914 TCF20 C>T	22	42607914	42607914	C	T	TCF20	c.3398G>A	NM_005650.4	NP_005641.1:p.(Arg1133Gln)	NC_000022.10:g.42607914C>T	(Likely) benign	1 lab	ad11d0e85a
15:65597138 MISSING G>A	15	65597138	65597138	G	A	MISSING				NC_000015.9:g.65597138G>A	(Likely) benign	1 lab	ad188dcaf5
5:90449154 ADGRV1 G>A	5	90449154	90449154	G	A	ADGRV1	c.18741G>A	NM_032119.4	NP_115495.3:p.(Gly6247=)	NC_000005.9:g.90449154G>A	(Likely) benign	1 lab	ad1afbf7f7
3:33099712 GLB1 C>T	3	33099712	33099712	C	T	GLB1	c.602G>A	NM_000404.4	NP_000395.3:p.(Arg201His)	NC_000003.11:g.33099712C>T	(Likely) pathogenic	1 lab	ad1bd24b9f
1:25629820 RHD T>G	1	25629820	25629820	T	G	RHD	c.809T>G	NM_016124.4	NP_057208.2:p.(Val270Gly)	NC_000001.10:g.25629820T>G	(Likely) benign	1 lab	ad1c897814
8:133584700 DNAAF11 C>G	8	133584700	133584700	C	G	DNAAF11	c.895G>C	NM_001321965.2	NP_001308894.1:p.(Asp299His)	NC_000008.10:g.133584700C>G	VUS	1 lab	ad1f6fc892
X:32716100 DMD C>G	X	32716100	32716100	C	G	DMD	c.847G>C	NM_004006.3	NP_003997.2:p.(Ala283Pro)	NC_000023.10:g.32716100C>G	VUS	1 lab	ad20db6c99
6:144262684 PLAGL1 T>TTGC	6	144262684	144262696	T	TTGC	PLAGL1	c.1266_1268dup	NM_001080951.3	NP_001074420.1:p.(Gln423dup)	NC_000006.11:g.144262694_144262696dup	VUS	1 lab	ad2651daef
13:25458349 CPAP G>A	13	25458349	25458349	G	A	CPAP	c.3653C>T	NM_018451.5	NP_060921.3:p.(Thr1218Met)	NC_000013.10:g.25458349G>A	VUS	1 lab	ad2cbe1129
2:44161953 LRPPRC T>C	2	44161953	44161953	T	C	LRPPRC	c.2569A>G	NM_133259.4	NP_573566.2:p.(Arg857Gly)	NC_000002.11:g.44161953T>C	(Likely) benign	1 lab	ad2e1f723a
5:52942083 NDUFS4 A>C	5	52942083	52942083	A	C	NDUFS4	c.198A>C	NM_002495.4	NP_002486.1:p.(Gly66=)	NC_000005.9:g.52942083A>C	(Likely) benign	1 lab	ad2f56f4bc
18:13885460 MC2R C>T	18	13885460	13885460	C	T	MC2R	c.58G>A	NM_000529.2	NP_000520.1:p.(Asp20Asn)	NC_000018.9:g.13885460C>T	VUS	1 lab	ad30f951b2
X:10417676 MID1 C>T	X	10417676	10417676	C	T	MID1	c.1736G>A	NM_000381.4	NP_000372.1:p.(Arg579His)	NC_000023.10:g.10417676C>T	VUS	1 lab	ad311a42f1
17:41245342 BRCA1 C>A	17	41245342	41245342	C	A	BRCA1	c.2206G>T	NM_007294.4	NP_009225.1:p.(Glu736Ter)	NC_000017.10:g.41245342C>A	(Likely) pathogenic	1 lab	ad3322da0c
1:210857457 KCNH1 A>G	1	210857457	210857457	A	G	KCNH1	c.2136T>C	NM_172362.3	NP_758872.1:p.(Asp712=)	NC_000001.10:g.210857457A>G	(Likely) benign	1 lab	ad339f2a69
17:3920954 ZZEF1 G>C	17	3920954	3920954	G	C	ZZEF1	c.7712C>G	NM_015113.4	NP_055928.3:p.(Thr2571Arg)	NC_000017.10:g.3920954G>C	VUS	1 lab	ad367ed6c7
X:48932581 WDR45 G>T	X	48932581	48932581	G	T	WDR45	c.977-10C>A	NM_007075.4	NP_009006.2:p.?	NC_000023.10:g.48932581G>T	(Likely) benign	1 lab	ad37594215
11:6644517 DCHS1 A>G	11	6644517	6644517	A	G	DCHS1	c.8390T>C	NM_003737.4	NP_003728.1:p.(Val2797Ala)	NC_000011.9:g.6644517A>G	VUS	1 lab	ad3b811553
X:110406187 PAK3 TGAA>T	X	110406187	110406198	TGAA	T	PAK3	c.522_524del	NM_002578.5	NP_002569.1:p.(Glu174del)	NC_000023.10:g.110406196_110406198del	VUS	1 lab	ad3e60c816
3:37067120 MLH1 T>TTTTTTTA	3	37067120	37067121	T	TTTTTTTA	MLH1	c.1039-8_1039-7insTTTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTTTA	(Likely) benign	1 lab	d365753142
19:36558235 WDR62 G>A	19	36558235	36558235	G	A	WDR62	c.589G>A	NM_001083961.2	NP_001077430.1:p.(Val197Ile)	NC_000019.9:g.36558235G>A	VUS	1 lab	ad409006ed
15:32988712 SCG5 C>T	15	32988712	32988712	C	T	SCG5	c.544-3C>T	NM_001144757.3	NP_001138229.1:p.?	NC_000015.9:g.32988712C>T	(Likely) benign	1 lab	ad41778763
15:25601173 UBE3A C>T	15	25601173	25601173	C	T	UBE3A	c.1930G>A	NM_130838.4	NP_570853.1:p.(Glu644Lys)	NC_000015.9:g.25601173C>T	VUS	1 lab	ad5461aa30
19:55451438 NLRP7 A>C	19	55451438	55451438	A	C	NLRP7	c.749T>G	NM_001127255.1	NP_001120727.1:p.(Phe250Cys)	NC_000019.9:g.55451438A>C	VUS	1 lab	ad597c4f6a
11:108385051 EXPH5 T>C	11	108385051	108385051	T	C	EXPH5	c.1183A>G	NM_015065.3	NP_055880.2:p.(Met395Val)	NC_000011.9:g.108385051T>C	VUS	1 lab	ad59b2b6e5
X:47433754 SYN1 A>G	X	47433754	47433754	A	G	SYN1	c.1629T>C	NM_006950.3	NP_008881.2:p.(Pro543=)	NC_000023.10:g.47433754A>G	(Likely) benign	1 lab	ad62cab0b7
14:95599737 DICER1 G>A	14	95599737	95599737	G	A	DICER1	c.59C>T	NM_177438.3	NP_803187.1:p.(Ala20Val)	NC_000014.8:g.95599737G>A	(Likely) benign	1 lab	ad6829b6cd
18:21529722 LAMA3 G>A	18	21529722	21529722	G	A	LAMA3	c.9352-7G>A	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21529722G>A	(Likely) benign	1 lab	ad69992498
1:1956362 GABRD G>A	1	1956362	1956362	G	A	GABRD	c.69-19G>A	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1956362G>A	(Likely) benign	1 lab	ad70412363
X:53246351 KDM5C G>A	X	53246351	53246351	G	A	KDM5C	c.631C>T	NM_004187.5	NP_004178.2:p.(Arg211Trp)	NC_000023.10:g.53246351G>A	VUS	1 lab	ad7093eb52
9:130587621 ENG C>G	9	130587621	130587621	C	G	ENG	c.705G>C	NM_000118.3	NP_000109.1:p.(Thr235=)	NC_000009.11:g.130587621C>G	(Likely) benign	1 lab	ad766d116a
15:44921005 SPG11 C>G	15	44921005	44921005	C	G	SPG11	c.1929G>C	NM_025137.4	NP_079413.3:p.(Leu643Phe)	NC_000015.9:g.44921005C>G	VUS	1 lab	ad790ff90c
12:80890325 PTPRQ T>TG	12	80890325	80890326	T	TG	PTPRQ	c.2272+15_2272+16insG	NM_001145026.2	NP_001138498.1:p.?	NC_000012.11:g.80890325_80890326insG	(Likely) benign	1 lab	ad7ef00211
2:179486343 TTN TCTC>T	2	179486343	179486349	TCTC	T	TTN	c.40282_40284del	NM_001256850.1	NP_001243779.1:p.(Glu13428del)	NC_000002.11:g.179486347_179486349del	VUS	1 lab	ad80618aca
19:18899028 COMP T>C	19	18899028	18899028	T	C	COMP	c.968A>G	NM_000095.3	NP_000086.2:p.(Asn323Ser)	NC_000019.9:g.18899028T>C	VUS	1 lab	ad83b2659b
19:33417136 CEP89 T>A	19	33417136	33417136	T	A	CEP89	c.1124A>T	NM_032816.5	NP_116205.3:p.(Asp375Val)	NC_000019.9:g.33417136T>A	VUS	1 lab	ad85a4aa3f
14:39556185 SEC23A G>C	14	39556185	39556185	G	C	SEC23A	c.631C>G	NM_006364.4	NP_006355.2:p.(Leu211Val)	NC_000014.8:g.39556185G>C	(Likely) benign	1 lab	ad86f1c246
19:39068617 RYR1 G>C	19	39068617	39068617	G	C	RYR1	c.14232G>C	NM_000540.3	NP_000531.2:p.(Met4744Ile)	NC_000019.9:g.39068617G>C	VUS	1 lab	ad8a733a73
6:79727197 PHIP T>C	6	79727197	79727197	T	C	PHIP	c.1095+3A>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79727197T>C	(Likely) benign	1 lab	ad8b599ac2
20:31369209 DNMT3B A>G	20	31369209	31369209	A	G	DNMT3B	c.193A>G	NM_006892.4	NP_008823.1:p.(Ser65Gly)	NC_000020.10:g.31369209A>G	VUS	1 lab	ad8f184833
19:48205303 BICRA G>T	19	48205303	48205303	G	T	BICRA	c.4314G>T	NM_015711.3	NP_056526.3:p.(Glu1438Asp)	NC_000019.9:g.48205303G>T	VUS	1 lab	ad913a6267
2:27305818 EMILIN1 T>TG	2	27305818	27305825	T	TG	EMILIN1	c.1386dup	NM_007046.4	NP_008977.1:p.(Arg463AlafsTer46)	NC_000002.11:g.27305825dup	(Likely) pathogenic	1 lab	ad9d65d457
11:32456326 WT1 G>A	11	32456326	32456326	G	A	WT1	c.581C>T	NM_024426.6	NP_077744.4:p.(Ser194Leu)	NC_000011.9:g.32456326G>A	(Likely) benign	1 lab	ad9f119509
2:166905480 SCN1A G>A	2	166905480	166905480	G	A	SCN1A	c.965-21C>T	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166905480G>A	(Likely) benign	1 lab	ada329de36
9:131380277 SPTAN1 C>A	9	131380277	131380277	C	A	SPTAN1	c.5490C>A	NM_001130438.3	NP_001123910.1:p.(Asp1830Glu)	NC_000009.11:g.131380277C>A	VUS	1 lab	ada6f7502c
5:161322889 GABRA1 G>A	5	161322889	161322889	G	A	GABRA1	c.1059+15G>A	NM_001127644.2	NP_001121116.1:p.?	NC_000005.9:g.161322889G>A	(Likely) benign	1 lab	adadd847eb
15:77329507 PSTPIP1 A>T	15	77329507	77329507	A	T	PSTPIP1	c.1241A>T	NM_003978.5	NP_003969.2:p.(Glu414Val)	NC_000015.9:g.77329507A>T	VUS	1 lab	adae6db678
1:45798293 MUTYH C>A	1	45798293	45798293	C	A	MUTYH	c.643G>T	NM_001128425.2	NP_001121897.1:p.(Val215Leu)	NC_000001.10:g.45798293C>A	VUS	1 lab	adb1225348
20:60585189 TAF4 C>T	20	60585189	60585189	C	T	TAF4	c.1674G>A	NM_003185.4	NP_003176.2:p.(Thr558=)	NC_000020.10:g.60585189C>T	(Likely) benign	1 lab	adb4957775
11:6653892 DCHS1 G>A	11	6653892	6653892	G	A	DCHS1	c.2851C>T	NM_003737.4	NP_003728.1:p.(Arg951Trp)	NC_000011.9:g.6653892G>A	VUS	1 lab	adb84b0bca
19:11312733 DOCK6 G>T	19	11312733	11312733	G	T	DOCK6	c.5520C>A	NM_020812.4	NP_065863.2:p.(Tyr1840Ter)	NC_000019.9:g.11312733G>T	(Likely) pathogenic	1 lab	adbfbaabba
17:60045479 MED13 C>T	17	60045479	60045479	C	T	MED13	c.4108G>A	NM_005121.3	NP_005112.2:p.(Ala1370Thr)	NC_000017.10:g.60045479C>T	(Likely) benign	1 lab	adc09a0549
10:112724124 SHOC2 G>C	10	112724124	112724124	G	C	SHOC2	c.8G>C	NM_007373.4	NP_031399.2:p.(Ser3Thr)	NC_000010.10:g.112724124G>C	VUS	1 lab	adc1bb84d2
13:32913844 BRCA2 CA>C	13	32913844	32913845	CA	C	BRCA2	c.5353del	NM_000059.4	NP_000050.3:p.(Thr1785LeufsTer6)	NC_000013.10:g.32913845del	(Likely) pathogenic	1 lab	adc37b6a6f
15:58254277 ALDH1A2 T>A	15	58254277	58254277	T	A	ALDH1A2	c.1121A>T	NM_001206897.2	NP_001193826.1:p.(Lys374Met)	NC_000015.9:g.58254277T>A	VUS	1 lab	adc3ccfa1a
13:32906840 BRCA2 GA>G	13	32906840	32906841	GA	G	BRCA2	c.1226del	NM_000059.4	NP_000050.3:p.(Glu409GlyfsTer21)	NC_000013.10:g.32906841del	(Likely) pathogenic	1 lab	adcb509273
16:2135282 TSC2 G>A	16	2135282	2135282	G	A	TSC2	c.4621G>A	NM_000548.5	NP_000539.2:p.(Asp1541Asn)	NC_000016.9:g.2135282G>A	VUS	1 lab	adce151291
3:7620452 GRM7 T>C	3	7620452	7620452	T	C	GRM7	c.1859T>C	NM_181874.3	NP_870989.1:p.(Ile620Thr)	NC_000003.11:g.7620452T>C	VUS	1 lab	add5aeace9
2:179404873 TTN G>A	2	179404873	179404873	G	A	TTN	c.98020C>T	NM_001267550.2	NP_001254479.2:p.(Arg32674Cys)	NC_000002.11:g.179404873G>A	VUS	1 lab	add7c764f7
2:179458369 TTN C>T	2	179458369	179458369	C	T	TTN	c.58658G>A	NM_001267550.2	NP_001254479.2:p.(Arg19553Gln)	NC_000002.11:g.179458369C>T	VUS	1 lab	add90e2371
2:219142370 PNKD C>T	2	219142370	219142370	C	T	PNKD	c.236+6098C>T	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219142370C>T	(Likely) benign	1 lab	addcc9a6cd
4:74318138 AFP C>G	4	74318138	74318138	C	G	AFP	c.1449C>G	NM_001134.3	NP_001125.1:p.(His483Gln)	NC_000004.11:g.74318138C>G	(Likely) benign	1 lab	addda86b4d
11:62299887 AHNAK C>T	11	62299887	62299887	C	T	AHNAK	c.2002G>A	NM_001620.3	NP_001611.1:p.(Ala668Thr)	NC_000011.9:g.62299887C>T	VUS	1 lab	ade0beb3db
17:78176038 CARD14 T>C	17	78176038	78176038	T	C	CARD14	c.2038T>C	NM_024110.4	NP_077015.2:p.(Tyr680His)	NC_000017.10:g.78176038T>C	(Likely) benign	1 lab	ade38005d2
11:65780305 CST6 C>T	11	65780305	65780305	C	T	CST6	c.249C>T	NM_001323.4	NP_001314.1:p.(Ala83=)	NC_000011.9:g.65780305C>T	(Likely) benign	1 lab	ade9cb1ab1
11:124793682 HEPACAM T>C	11	124793682	124793682	T	C	HEPACAM	c.652A>G	NM_152722.5	NP_689935.2:p.(Met218Val)	NC_000011.9:g.124793682T>C	(Likely) benign	1 lab	adee9d27b1
16:5125454 ALG1 C>G	16	5125454	5125454	C	G	ALG1	c.456C>G	NM_019109.5	NP_061982.3:p.(Leu152=)	NC_000016.9:g.5125454C>G	(Likely) benign	1 lab	adf26923f4
12:52844400 KRT6B C>T	12	52844400	52844400	C	T	KRT6B	c.545G>A	NM_005555.4	NP_005546.2:p.(Arg182Gln)	NC_000012.11:g.52844400C>T	(Likely) benign	1 lab	adf382380a
1:20987873 DDOST G>C	1	20987873	20987873	G	C	DDOST				NC_000001.10:g.20987873G>C	(Likely) benign	1 lab	adf4352ab7
2:219204523 PNKD G>A	2	219204523	219204523	G	A	PNKD	c.254G>A	NM_015488.5	NP_056303.3:p.(Arg85His)	NC_000002.11:g.219204523G>A	(Likely) benign	1 lab	adf5793457
13:32907224 BRCA2 G>T	13	32907224	32907224	G	T	BRCA2	c.1609G>T	NM_000059.4	NP_000050.3:p.(Glu537Ter)	NC_000013.10:g.32907224G>T	(Likely) pathogenic	1 lab	adfe3c937b
15:94927293 MCTP2 G>A	15	94927293	94927293	G	A	MCTP2	c.1625G>A	NM_018349.4	NP_060819.3:p.(Arg542Gln)	NC_000015.9:g.94927293G>A	VUS	1 lab	adfe3f1624
11:78413265 TENM4 C>T	11	78413265	78413265	C	T	TENM4	c.4393G>A	NM_001098816.3	NP_001092286.2:p.(Ala1465Thr)	NC_000011.9:g.78413265C>T	(Likely) benign	1 lab	ae007f7b16
12:112915779 PTPN11 G>A	12	112915779	112915779	G	A	PTPN11	c.1052G>A	NM_002834.5	NP_002825.3:p.(Arg351Gln)	NC_000012.11:g.112915779G>A	VUS	1 lab	ae0a7117d3
18:2923776 LPIN2 T>C	18	2923776	2923776	T	C	LPIN2	c.2171A>G	NM_014646.2	NP_055461.1:p.(Asn724Ser)	NC_000018.9:g.2923776T>C	VUS	1 lab	ae24022caa
11:35333918 SLC1A2 T>C	11	35333918	35333918	T	C	SLC1A2	c.388A>G	NM_004171.4	NP_004162.2:p.(Ile130Val)	NC_000011.9:g.35333918T>C	VUS	1 lab	ae107fa2cf
1:23417829 LUZP1 G>C	1	23417829	23417829	G	C	LUZP1	c.2926C>G	NM_033631.4	NP_361013.3:p.(Arg976Gly)	NC_000001.10:g.23417829G>C	VUS	1 lab	ae12835209
6:170871055 TBP G>A	6	170871055	170871055	G	A	TBP	c.231G>A	NM_003194.5	NP_003185.1:p.(Gln77=)	NC_000006.11:g.170871055G>A	(Likely) benign	1 lab	ae16e3aa93
1:78383405 NEXN A>G	1	78383405	78383405	A	G	NEXN	c.182A>G	NM_144573.4	NP_653174.3:p.(Tyr61Cys)	NC_000001.10:g.78383405A>G	VUS	1 lab	ae18623db2
1:1469390 ATAD3A CAGA>C	1	1469390	1469396	CAGA	C	ATAD3A	c.1703_1705del	NM_001170535.3	NP_001164006.1:p.(Lys568del)	NC_000001.10:g.1469394_1469396del	VUS	1 lab	ae197c84aa
5:96139428 ERAP1 G>A	5	96139428	96139428	G	A	ERAP1	c.202C>T	NM_016442.5	NP_057526.3:p.(His68Tyr)	NC_000005.9:g.96139428G>A	VUS	1 lab	ae1d71158a
7:151791491 GALNT11 C>T	7	151791491	151791491	C	T	GALNT11	c.179C>T	NM_022087.4	NP_071370.2:p.(Thr60Ile)	NC_000007.13:g.151791491C>T	VUS	1 lab	ae2007b660
14:92506058 TRIP11 C>T	14	92506058	92506058	C	T	TRIP11	c.-29G>A	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92506058C>T	VUS	1 lab	ae2279d16b
19:55329935 KIR3DL1 G>T	19	55329935	55329935	G	T	KIR3DL1	c.236G>T	NM_013289.3	NP_037421.2:p.(Ser79Ile)	NC_000019.9:g.55329935G>T	VUS	1 lab	ae239d202d
8:144899252 PUF60 ATGGGG>A	8	144899252	144899258	ATGGGG	A	PUF60	c.1203_1207del	NM_078480.3	NP_510965.1:p.(Ile403GlyfsTer42)	NC_000008.10:g.144899254_144899258del	(Likely) pathogenic	1 lab	ae2e647aea
17:73753503 ITGB4 T>C	17	73753503	73753503	T	C	ITGB4	c.5336T>C	NM_000213.5	NP_000204.3:p.(Leu1779Pro)	NC_000017.10:g.73753503T>C	(Likely) benign	1 lab	ae3203599c
6:157527622 ARID1B A>G	6	157527622	157527622	A	G	ARID1B	c.5596A>G	NM_001371656.1	NP_001358585.1:p.(Lys1866Glu)	NC_000006.11:g.157527622A>G	VUS	1 lab	ae352e573b
7:155596378 SHH G>A	7	155596378	155596378	G	A	SHH	c.605C>T	NM_000193.4	NP_000184.1:p.(Ser202Leu)	NC_000007.13:g.155596378G>A	VUS	1 lab	ae3ae9f102
5:66400332 MAST4 T>A	5	66400332	66400332	T	A	MAST4	c.718T>A	NM_015183.3	NP_055998.1:p.(Ser240Thr)	NC_000005.9:g.66400332T>A	VUS	1 lab	ae3cc0c8d1
2:169788967 ABCB11 T>A	2	169788967	169788967	T	A	ABCB11	c.3133A>T	NM_003742.4	NP_003733.2:p.(Lys1045Ter)	NC_000002.11:g.169788967T>A	(Likely) pathogenic	1 lab	ae3dae3997
14:64463795 SYNE2 A>G	14	64463795	64463795	A	G	SYNE2	c.3071A>G	NM_182914.3	NP_878918.2:p.(Gln1024Arg)	NC_000014.8:g.64463795A>G	VUS	1 lab	ae3e857d02
11:47353660 MYBPC3 C>T	11	47353660	47353660	C	T	MYBPC3	c.3777G>A	NM_000256.3	NP_000247.2:p.(Gln1259=)	NC_000011.9:g.47353660C>T	(Likely) benign	1 lab	ae3f28bd65
21:47744170 PCNT A>G	21	47744170	47744170	A	G	PCNT	c.28A>G	NM_006031.6	NP_006022.3:p.(Arg10Gly)	NC_000021.8:g.47744170A>G	VUS	1 lab	aea2ad3f63
7:103159870 RELN T>G	7	103159870	103159870	T	G	RELN	c.7762A>C	NM_005045.4	NP_005036.2:p.(Asn2588His)	NC_000007.13:g.103159870T>G	VUS	1 lab	ae477f5501
10:115371994 NRAP T>G	10	115371994	115371994	T	G	NRAP	c.3497A>C	NM_001261463.2	NP_001248392.1:p.(Glu1166Ala)	NC_000010.10:g.115371994T>G	VUS	1 lab	ae49bc3ec5
X:53970674 PHF8 G>A	X	53970674	53970674	G	A	PHF8	c.2542C>T	NM_015107.3	NP_055922.1:p.(Arg848Cys)	NC_000023.10:g.53970674G>A	VUS	1 lab	ae4aa002b2
X:44929154 KDM6A C>T	X	44929154	44929154	C	T	KDM6A	c.2254C>T	NM_021140.4	NP_066963.2:p.(His752Tyr)	NC_000023.10:g.44929154C>T	VUS	1 lab	ae4b8bf173
3:119187941 POGLUT1 C>T	3	119187941	119187941	C	T	POGLUT1	c.73C>T	NM_152305.3	NP_689518.1:p.(Gln25Ter)	NC_000003.11:g.119187941C>T	(Likely) pathogenic	1 lab	ae4c43d678
7:117365178 CTTNBP2 C>T	7	117365178	117365178	C	T	CTTNBP2	c.4189G>A	NM_033427.3	NP_219499.1:p.(Ala1397Thr)	NC_000007.13:g.117365178C>T	VUS	1 lab	ae4c793ad6
4:4861769 MSX1 A>AG	4	4861769	4861774	A	AG	MSX1	c.148dup	NM_002448.3	NP_002439.2:p.(Ala50GlyfsTer125)	NC_000004.11:g.4861774dup	(Likely) pathogenic	1 lab	ae4d08a499
X:153629296 RPL10 C>T	X	153629296	153629296	C	T	RPL10	c.583C>T	NM_001256577.2	NP_001243506.2:p.(Pro195Ser)	NC_000023.10:g.153629296C>T	VUS	1 lab	ae4f3cdbe5
6:7583814 DSP G>C	6	7583814	7583814	G	C	DSP	c.6319G>C	NM_004415.4	NP_004406.2:p.(Val2107Leu)	NC_000006.11:g.7583814G>C	VUS	1 lab	ae4f82b54e
17:48265426 COL1A1 A>G	17	48265426	48265426	A	G	COL1A1	c.3261+31T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265426A>G	(Likely) benign	1 lab	ae4fe2abf1
2:109368101 RANBP2 A>G	2	109368101	109368101	A	G	RANBP2	c.1573A>G	NM_006267.5	NP_006258.3:p.(Thr525Ala)	NC_000002.11:g.109368101A>G	VUS	1 lab	ae517258bf
17:27869691 TAOK1 GT>G	17	27869691	27869695	GT	G	TAOK1	c.2661del	NM_020791.4	NP_065842.1:p.(Phe887LeufsTer83)	NC_000017.10:g.27869695del	VUS	1 lab	ae51e61928
9:135974079 RALGDS G>C	9	135974079	135974079	G	C	RALGDS	c.2640C>G	NM_006266.4	NP_006257.1:p.(Leu880=)	NC_000009.11:g.135974079G>C	(Likely) benign	1 lab	ae55df730f
3:38662331 SCN5A T>C	3	38662331	38662331	T	C	SCN5A	c.611+3A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38662331T>C	(Likely) benign	1 lab	ae62429389
15:41272464 INO80 A>AC	15	41272464	41272466	A	AC	INO80	c.4627dup	NM_017553.3	NP_060023.1:p.(Val1543GlyfsTer32)	NC_000015.9:g.41272466dup	VUS	1 lab	ae63dfe77a
19:17941294 JAK3 T>C	19	17941294	17941294	T	C	JAK3	c.3096+18A>G	NM_000215.4	NP_000206.2:p.?	NC_000019.9:g.17941294T>C	(Likely) benign	1 lab	ae67cb67a0
13:48916733 RB1 A>G	13	48916733	48916733	A	G	RB1	c.265-2A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48916733A>G	(Likely) pathogenic	1 lab	ae6aac737a
12:91502687 LUM C>T	12	91502687	91502687	C	T	LUM	c.70G>A	NM_002345.4	NP_002336.1:p.(Asp24Asn)	NC_000012.11:g.91502687C>T	VUS	1 lab	ae6d362a2c
4:6612871 MAN2B2 C>T	4	6612871	6612871	C	T	MAN2B2	c.2429C>T	NM_015274.3	NP_056089.1:p.(Thr810Met)	NC_000004.11:g.6612871C>T	VUS	1 lab	ae6f945aec
2:179647775 TTN G>C	2	179647775	179647775	G	C	TTN	c.2858C>G	NM_001267550.2	NP_001254479.2:p.(Thr953Ser)	NC_000002.11:g.179647775G>C	VUS	1 lab	ae7251e383
X:153761021 G6PD C>T	X	153761021	153761021	C	T	G6PD	c.1052-4G>A	NM_001042351.3	NP_001035810.1:p.?	NC_000023.10:g.153761021C>T	(Likely) benign	1 lab	ae7365445e
9:130578071 ENG G>A	9	130578071	130578071	G	A	ENG	c.*125C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130578071G>A	VUS	1 lab	ae75f3cc92
17:41256988 BRCA1 T>C	17	41256988	41256988	T	C	BRCA1	c.213-15A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256988T>C	(Likely) pathogenic	1 lab	ae7a8b8444
3:49395673 GPX1 GGCCGCC>G	3	49395673	49395693	GGCCGCC	G	GPX1	c.33_38del	NM_201397.3	NP_958799.1:p.?	NC_000003.11:g.49395688_49395693del	(Likely) benign	1 lab	ae7b9380c3
11:6654075 DCHS1 T>C	11	6654075	6654075	T	C	DCHS1	c.2668A>G	NM_003737.4	NP_003728.1:p.(Asn890Asp)	NC_000011.9:g.6654075T>C	VUS	1 lab	ae802dc308
16:88789334 PIEZO1 G>A	16	88789334	88789334	G	A	PIEZO1	c.4579C>T	NM_001142864.4	NP_001136336.2:p.(Arg1527Cys)	NC_000016.9:g.88789334G>A	VUS	1 lab	ae837abcb2
16:24816030 TNRC6A G>A	16	24816030	24816030	G	A	TNRC6A	c.3842G>A	NM_014494.4	NP_055309.2:p.(Gly1281Asp)	NC_000016.9:g.24816030G>A	VUS	1 lab	ae8bc538df
6:7569486 DSP C>T	6	7569486	7569486	C	T	DSP	c.1487C>T	NM_004415.4	NP_004406.2:p.(Thr496Met)	NC_000006.11:g.7569486C>T	VUS	1 lab	ae8fbb2678
17:76433932 DNAH17 G>A	17	76433932	76433932	G	A	DNAH17	c.11824C>T	NM_173628.4	NP_775899.3:p.(Arg3942Trp)	NC_000017.10:g.76433932G>A	VUS	1 lab	ae94bf75a6
2:179569670 TTN T>C	2	179569670	179569670	T	C	TTN	c.29628A>G	NM_001267550.2	NP_001254479.2:p.(Ser9876=)	NC_000002.11:g.179569670T>C	(Likely) benign	1 lab	ae9529339b
9:131456213 SET A>AGAT	9	131456213	131456230	A	AGAT	SET	c.756_758dup	NM_001122821.2	NP_001116293.1:p.(Asp252dup)	NC_000009.11:g.131456228_131456230dup	VUS	1 lab	aea3b024bb
20:31386347 DNMT3B T>C	20	31386347	31386347	T	C	DNMT3B	c.1572T>C	NM_006892.4	NP_008823.1:p.(Cys524=)	NC_000020.10:g.31386347T>C	(Likely) benign	1 lab	aea57f33d2
1:22160111 HSPG2 C>T	1	22160111	22160111	C	T	HSPG2	c.10831-4G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22160111C>T	(Likely) benign	1 lab	aeaebc2de4
4:149002016 NR3C2 AT>A	4	149002016	149002023	AT	A	NR3C2	c.*478del	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149002023del	(Likely) benign	1 lab	aeb4654195
X:122336604 GRIA3 C>CG	X	122336604	122336605	C	CG	GRIA3	c.385_386delinsCG	NM_001256743.2	NP_001243672.1:p.(Ala129Arg)	NC_000023.10:g.122336604_122336605insG	(Likely) benign	1 lab	aeb638b521
6:146755535 GRM1 G>C	6	146755535	146755535	G	C	GRM1	c.3188G>C	NM_001278064.2	NP_001264993.1:p.(Arg1063Pro)	NC_000006.11:g.146755535G>C	(Likely) benign	1 lab	aec251259b
20:49510406 ADNP C>G	20	49510406	49510406	C	G	ADNP	c.845G>C	NM_015339.5	NP_056154.1:p.(Gly282Ala)	NC_000020.10:g.49510406C>G	(Likely) benign	1 lab	aec445631e
8:106431461 ZFPM2 G>A	8	106431461	106431461	G	A	ZFPM2	c.130G>A	NM_012082.4	NP_036214.2:p.(Glu44Lys)	NC_000008.10:g.106431461G>A	(Likely) benign	1 lab	aecabfe0b4
3:150661680 CLRN1 G>A	3	150661680	150661680	G	A	CLRN1	c.352C>T	NM_001256819.2	NP_001243748.1:p.(Arg118Ter)	NC_000003.11:g.150661680G>A	(Likely) pathogenic	1 lab	aecd90da75
X:69637759 KIF4A G>A	X	69637759	69637759	G	A	KIF4A	c.3277G>A	NM_012310.5	NP_036442.3:p.(Gly1093Arg)	NC_000023.10:g.69637759G>A	VUS	1 lab	aecd99c9a8
5:98235374 CHD1 C>T	5	98235374	98235374	C	T	CHD1	c.895G>A	NM_001270.4	NP_001261.2:p.(Ala299Thr)	NC_000005.9:g.98235374C>T	(Likely) benign	1 lab	aedadf8be4
X:41205842 DDX3X C>T	X	41205842	41205842	C	T	DDX3X	c.1582C>T	NM_001356.5	NP_001347.3:p.(Arg528Cys)	NC_000023.10:g.41205842C>T	(Likely) pathogenic	1 lab	aedb49eda5
2:179528014 TTN G>A	2	179528014	179528014	G	A	TTN	c.36679C>T	NM_001267550.2	NP_001254479.2:p.(Pro12227Ser)	NC_000002.11:g.179528014G>A	VUS	1 lab	aedc4632cf
2:179414794 TTN G>A	2	179414794	179414794	G	A	TTN	c.91771C>T	NM_001267550.2	NP_001254479.2:p.(Arg30591Trp)	NC_000002.11:g.179414794G>A	VUS	1 lab	aedc7d297f
3:48619156 COL7A1 C>T	3	48619156	48619156	C	T	COL7A1	c.4705G>A	NM_000094.4	NP_000085.1:p.(Gly1569Arg)	NC_000003.11:g.48619156C>T	(Likely) pathogenic	1 lab	aeded00aff
19:16952576 SIN3B CAGG>C	19	16952576	16952581	CAGG	C	SIN3B	c.382_384del	NM_015260.4	NP_056075.1:p.(Glu128del)	NC_000019.9:g.16952579_16952581del	VUS	1 lab	aee043b695
3:15686469 BTD C>T	3	15686469	15686469	C	T	BTD	c.1046C>T	NM_001370658.1	NP_001357587.1:p.(Pro349Leu)	NC_000003.11:g.15686469C>T	VUS	1 lab	aee25f314e
14:23894988 MYH7 C>CT	14	23894988	23894989	C	CT	MYH7	c.2201dup	NM_000257.4	NP_000248.2:p.(Phe735ValfsTer3)	NC_000014.8:g.23894989dup	VUS	1 lab	aee347d840
X:46531989 SLC9A7 A>G	X	46531989	46531989	A	G	SLC9A7	c.677T>C	NM_032591.3	NP_115980.1:p.(Ile226Thr)	NC_000023.10:g.46531989A>G	VUS	1 lab	aee4a4a83f
12:106853106 POLR3B A>G	12	106853106	106853106	A	G	POLR3B	c.2530A>G	NM_018082.6	NP_060552.4:p.(Asn844Asp)	NC_000012.11:g.106853106A>G	VUS	1 lab	aee8e9ee12
15:48782128 FBN1 G>A	15	48782128	48782128	G	A	FBN1	c.3002C>T	NM_000138.5	NP_000129.3:p.(Thr1001Ile)	NC_000015.9:g.48782128G>A	VUS	1 lab	aee9d44f91
20:35545145 SAMHD1 G>A	20	35545145	35545145	G	A	SAMHD1	c.1042C>T	NM_015474.4	NP_056289.2:p.(Arg348Cys)	NC_000020.10:g.35545145G>A	VUS	1 lab	aef079f267
X:153297759 MECP2 T>C	X	153297759	153297759	T	C	MECP2	c.276A>G	NM_004992.4	NP_004983.1:p.(Gly92=)	NC_000023.10:g.153297759T>C	(Likely) benign	1 lab	aef1310eda
9:97321398 FBP2 T>C	9	97321398	97321398	T	C	FBP2	c.842A>G	NM_003837.4	NP_003828.2:p.(Glu281Gly)	NC_000009.11:g.97321398T>C	VUS	1 lab	aef600a594
18:28956904 DSG4 C>T	18	28956904	28956904	C	T	DSG4	c.30C>T	NM_001134453.3	NP_001127925.1:p.(Cys10=)	NC_000018.9:g.28956904C>T	(Likely) benign	1 lab	aefa2ca1b1
1:78383467 NEXN G>A	1	78383467	78383467	G	A	NEXN	c.219+25G>A	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78383467G>A	(Likely) benign	1 lab	aefcd5b969
19:1912297 ADAT3 C>G	19	1912297	1912297	C	G	ADAT3	c.251C>G	NM_138422.4	NP_612431.2:p.(Pro84Arg)	NC_000019.9:g.1912297C>G	VUS	1 lab	aefd956c63
2:166898900 SCN1A CT>C	2	166898900	166898902	CT	C	SCN1A	c.2077del	NM_001165963.4	NP_001159435.1:p.(Arg693GlyfsTer12)	NC_000002.11:g.166898902del	(Likely) pathogenic	1 lab	aefe061803
17:3421973 TRPV3 T>C	17	3421973	3421973	T	C	TRPV3	c.1982A>G	NM_145068.4	NP_659505.1:p.(Tyr661Cys)	NC_000017.10:g.3421973T>C	VUS	1 lab	af006d93d4
2:74328945 TET3 C>T	2	74328945	74328945	C	T	TET3	c.5030C>T	NM_001287491.2	NP_001274420.1:p.(Pro1677Leu)	NC_000002.11:g.74328945C>T	(Likely) pathogenic	1 lab	af029201d9
16:7726800 RBFOX1 G>A	16	7726800	7726800	G	A	RBFOX1	c.1018G>A	NM_145891.3	NP_665898.1:p.(Ala340Thr)	NC_000016.9:g.7726800G>A	VUS	1 lab	af046b6171
14:77493644 IRF2BPL CGCAGCG>C	14	77493644	77493652	CGCAGCG	C	IRF2BPL	c.486_491del	NM_024496.4	NP_078772.1:p.(Ala163_Ala164del)	NC_000014.8:g.77493647_77493652del	VUS	1 lab	af0b1df19e
2:160284451 BAZ2B C>T	2	160284451	160284451	C	T	BAZ2B	c.2358+371G>A	NM_001289975.1	NP_001276904.1:p.?	NC_000002.11:g.160284451C>T	VUS	1 lab	af0fa4e9a0
X:40448358 ATP6AP2 C>T	X	40448358	40448358	C	T	ATP6AP2	c.158C>T	NM_005765.3	NP_005756.2:p.(Ser53Phe)	NC_000023.10:g.40448358C>T	VUS	1 lab	af135c489a
22:42606376 TCF20 C>T	22	42606376	42606376	C	T	TCF20	c.4936G>A	NM_005650.4	NP_005641.1:p.(Val1646Ile)	NC_000022.10:g.42606376C>T	(Likely) benign	1 lab	af1c3954ed
6:30569380 PPP1R10 A>C	6	30569380	30569380	A	C	PPP1R10	c.2769T>G	NM_002714.4	NP_002705.2:p.(Tyr923Ter)	NC_000006.11:g.30569380A>C	VUS	1 lab	af22c0fe03
20:31024623 ASXL1 GAGA>G	20	31024623	31024629	GAGA	G	ASXL1	c.4112_4114del	NM_015338.6	NP_056153.2:p.(Lys1371del)	NC_000020.10:g.31024627_31024629del	(Likely) benign	1 lab	af2d7a1326
2:179414757 TTN T>C	2	179414757	179414757	T	C	TTN	c.91808A>G	NM_001267550.2	NP_001254479.2:p.(Asn30603Ser)	NC_000002.11:g.179414757T>C	VUS	1 lab	af2ee46978
3:9517695 SETD5 C>T	3	9517695	9517695	C	T	SETD5	c.3955C>T	NM_001349451.2	NP_001336380.1:p.(Arg1319Cys)	NC_000003.11:g.9517695C>T	VUS	1 lab	af2f4f24b0
19:40880431 PLD3 T>C	19	40880431	40880431	T	C	PLD3	c.923T>C	NM_012268.4	NP_036400.2:p.(Leu308Pro)	NC_000019.9:g.40880431T>C	(Likely) pathogenic	1 lab	af32354693
16:1779195 MAPK8IP3 C>T	16	1779195	1779195	C	T	MAPK8IP3	c.496C>T	NM_001040439.2	NP_001035529.1:p.(Gln166Ter)	NC_000016.9:g.1779195C>T	VUS	1 lab	af3b836fd8
16:30977588 SETD1A G>T	16	30977588	30977588	G	T	SETD1A	c.2386G>T	NM_014712.3	NP_055527.1:p.(Ala796Ser)	NC_000016.9:g.30977588G>T	VUS	1 lab	af424a9314
19:4543626 SEMA6B G>A	19	4543626	4543626	G	A	SEMA6B	c.2654C>T	NM_032108.4	NP_115484.2:p.(Pro885Leu)	NC_000019.9:g.4543626G>A	VUS	1 lab	af42c6c27f
19:49481379 GYS1 CT>C	19	49481379	49481380	CT	C	GYS1	c.1204del	NM_002103.5	NP_002094.2:p.(Arg402GlyfsTer15)	NC_000019.9:g.49481380del	(Likely) pathogenic	1 lab	af462c315f
X:154250697 F8 G>A	X	154250697	154250697	G	A	F8	c.131C>T	NM_000132.4	NP_000123.1:p.(Pro44Leu)	NC_000023.10:g.154250697G>A	VUS	1 lab	af4753042c
2:215632281 BARD1 A>G	2	215632281	215632281	A	G	BARD1	c.1493T>C	NM_000465.4	NP_000456.2:p.(Leu498Pro)	NC_000002.11:g.215632281A>G	VUS	1 lab	af495a3abe
2:54839474 SPTBN1 A>G	2	54839474	54839474	A	G	SPTBN1	c.474+3A>G	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54839474A>G	(Likely) benign	1 lab	af4fae0c59
3:196778438 DLG1 C>T	3	196778438	196778438	C	T	DLG1	c.2674+10G>A	NM_004087.2	NP_004078.2:p.?	NC_000003.11:g.196778438C>T	(Likely) benign	1 lab	af5788dfdb
10:135094872 TUBGCP2 G>C	10	135094872	135094872	G	C	TUBGCP2	c.2562C>G	NM_001256617.2	NP_001243546.1:p.(Asp854Glu)	NC_000010.10:g.135094872G>C	VUS	1 lab	af59f1d729
18:28968371 DSG4 G>A	18	28968371	28968371	G	A	DSG4	c.258G>A	NM_001134453.3	NP_001127925.1:p.(Arg86=)	NC_000018.9:g.28968371G>A	(Likely) benign	1 lab	af5b0e609a
5:92921025 NR2F1 G>A	5	92921025	92921025	G	A	NR2F1	c.296G>A	NM_005654.6	NP_005645.1:p.(Gly99Asp)	NC_000005.9:g.92921025G>A	VUS	1 lab	af5e4837c5
17:60060147 MED13 C>T	17	60060147	60060147	C	T	MED13	c.3217G>A	NM_005121.3	NP_005112.2:p.(Val1073Ile)	NC_000017.10:g.60060147C>T	VUS	1 lab	af612d84b0
19:42794661 CIC C>T	19	42794661	42794661	C	T	CIC	c.1741C>T	NM_015125.5	NP_055940.3:p.(Pro581Ser)	NC_000019.9:g.42794661C>T	(Likely) benign	1 lab	af66354b46
10:75860754 VCL G>A	10	75860754	75860754	G	A	VCL	c.1921G>A	NM_014000.3	NP_054706.1:p.(Gly641Ser)	NC_000010.10:g.75860754G>A	VUS	1 lab	af7087a2e2
7:21677293 DNAH11 A>C	7	21677293	21677293	A	C	DNAH11	c.4790A>C	NM_001277115.2	NP_001264044.1:p.(Tyr1597Ser)	NC_000007.13:g.21677293A>C	VUS	1 lab	af71467c7c
X:48339840 FTSJ1 C>T	X	48339840	48339840	C	T	FTSJ1	c.495C>T	NM_177439.3	NP_803188.1:p.(Leu165=)	NC_000023.10:g.48339840C>T	(Likely) benign	1 lab	af7240e4b4
17:39739599 KRT14 G>A	17	39739599	39739599	G	A	KRT14	c.1162C>T	NM_000526.5	NP_000517.3:p.(Arg388Cys)	NC_000017.10:g.39739599G>A	(Likely) pathogenic	1 lab	af756ed6d5
12:7045885 ATN1 ACAGCAACAGCAGCAGCAGCAGCAGCAG>A	12	7045885	7045917	ACAGCAACAGCAGCAGCAGCAGCAGCAG	A	ATN1	c.1461_1487del	NM_001007026.2	NP_001007027.1:p.(Gln494_Gln502del)	NC_000012.11:g.7045891_7045917del	(Likely) benign	1 lab	af781f093a
6:33399778 SYNGAP1 C>T	6	33399778	33399778	C	T	SYNGAP1	c.296-160C>T	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33399778C>T	(Likely) benign	1 lab	af7f35bf17
12:52867158 KRT6C A>G	12	52867158	52867158	A	G	KRT6C	c.364T>C	NM_173086.5	NP_775109.2:p.(Phe122Leu)	NC_000012.11:g.52867158A>G	(Likely) benign	1 lab	af84da2de8
16:2168217 PKD1 C>T	16	2168217	2168217	C	T	PKD1	c.776G>A	NM_001009944.3	NP_001009944.3:p.(Cys259Tyr)	NC_000016.9:g.2168217C>T	(Likely) benign	1 lab	af895d0986
2:29444095 ALK C>T	2	29444095	29444095	C	T	ALK	c.3516-394G>A	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29444095C>T	(Likely) benign	1 lab	af9096f0e5
2:179464514 TTN A>G	2	179464514	179464514	A	G	TTN	c.56114T>C	NM_001267550.2	NP_001254479.2:p.(Val18705Ala)	NC_000002.11:g.179464514A>G	VUS	1 lab	af946a89ce
15:80464580 FAH C>T	15	80464580	80464580	C	T	FAH	c.696C>T	NM_000137.4	NP_000128.1:p.(Asn232=)	NC_000015.9:g.80464580C>T	(Likely) pathogenic	1 lab	af96599887
22:51117311 SHANK3 A>G	22	51117311	51117311	A	G	SHANK3	c.788A>G	NM_001372044.2	NP_001358973.1:p.(His263Arg)	NC_000022.10:g.51117311A>G	VUS	1 lab	af9f0104db
19:590301 HCN2 G>C	19	590301	590301	G	C	HCN2	c.356G>C	NM_001194.4	NP_001185.3:p.(Arg119Pro)	NC_000019.9:g.590301G>C	VUS	1 lab	afa744bf97
13:26975740 CDK8 TATC>T	13	26975740	26975745	TATC	T	CDK8	c.1251_1253del	NM_001260.3	NP_001251.1:p.(Ile417del)	NC_000013.10:g.26975743_26975745del	VUS	1 lab	afa79a0eaf
12:42854188 PRICKLE1 T>A	12	42854188	42854188	T	A	PRICKLE1	c.1919A>T	NM_153026.3	NP_694571.2:p.(Asn640Ile)	NC_000012.11:g.42854188T>A	VUS	1 lab	afa8b0972c
8:2021501 MYOM2 G>T	8	2021501	2021501	G	T	MYOM2	c.1041G>T	NM_003970.4	NP_003961.3:p.(Lys347Asn)	NC_000008.10:g.2021501G>T	VUS	1 lab	afa963d668
20:40247067 CHD6 T>C	20	40247067	40247067	T	C	CHD6				NC_000020.10:g.40247067T>C	VUS	1 lab	afa9a93c06
9:140919617 CACNA1B C>G	9	140919617	140919617	C	G	CACNA1B	c.3279C>G	NM_000718.4	NP_000709.1:p.(Val1093=)	NC_000009.11:g.140919617C>G	(Likely) benign	1 lab	afa9b078e9
3:49699216 BSN G>A	3	49699216	49699216	G	A	BSN	c.9938G>A	NM_003458.4	NP_003449.2:p.(Arg3313Gln)	NC_000003.11:g.49699216G>A	VUS	1 lab	afb67210f9
1:185269440 IVNS1ABP G>C	1	185269440	185269440	G	C	IVNS1ABP	c.1278C>G	NM_006469.5	NP_006460.2:p.(His426Gln)	NC_000001.10:g.185269440G>C	(Likely) benign	1 lab	afbe5d9310
9:138594151 KCNT1 A>T	9	138594151	138594151	A	T	KCNT1	c.47A>T	NM_020822.3	NP_065873.2:p.(Glu16Val)	NC_000009.11:g.138594151A>T	(Likely) benign	1 lab	afc2199d14
22:38370089 SOX10 C>T	22	38370089	38370089	C	T	SOX10	c.814G>A	NM_006941.4	NP_008872.1:p.(Asp272Asn)	NC_000022.10:g.38370089C>T	VUS	1 lab	afce1457bb
6:29911114 HLA-A G>A	6	29911114	29911114	G	A	HLA-A	c.413G>A	NM_002116.8	NP_002107.3:p.(Arg138Gln)	NC_000006.11:g.29911114G>A	(Likely) benign	1 lab	afcfe39e96
14:100808881 WARS1 C>T	14	100808881	100808881	C	T	WARS1	c.967G>A	NM_004184.4	NP_004175.2:p.(Val323Ile)	NC_000014.8:g.100808881C>T	VUS	1 lab	afd07ecbd2
5:1411433 SLC6A3 G>A	5	1411433	1411433	G	A	SLC6A3	c.1194C>T	NM_001044.5	NP_001035.1:p.(Ile398=)	NC_000005.9:g.1411433G>A	(Likely) benign	1 lab	afd1e29f49
3:124053130 KALRN G>A	3	124053130	124053130	G	A	KALRN	c.1429G>A	NM_001024660.5	NP_001019831.2:p.(Ala477Thr)	NC_000003.11:g.124053130G>A	VUS	1 lab	afd70f0c4c
9:2039510 SMARCA2 G>A	9	2039510	2039510	G	A	SMARCA2	c.400G>A	NM_003070.5	NP_003061.3:p.(Val134Ile)	NC_000009.11:g.2039510G>A	(Likely) benign	1 lab	afdd71bbc4
10:73567763 CDH23 G>C	10	73567763	73567763	G	C	CDH23	c.8721G>C	NM_022124.6	NP_071407.4:p.(Met2907Ile)	NC_000010.10:g.73567763G>C	VUS	1 lab	afe3b72ae1
10:95549836 LGI1 C>CT	10	95549836	95549851	C	CT	LGI1	c.432-5dup	NM_005097.4	NP_005088.1:p.?	NC_000010.10:g.95549851dup	(Likely) benign	1 lab	afe8b3527d
13:32906594 BRCA2 A>T	13	32906594	32906594	A	T	BRCA2	c.979A>T	NM_000059.4	NP_000050.3:p.(Lys327Ter)	NC_000013.10:g.32906594A>T	(Likely) pathogenic	1 lab	afe9f41fa1
2:60679735 BCL11A C>G	2	60679735	60679735	C	G	BCL11A	c.2297G>C	NM_018014.4	NP_060484.2:p.(Gly766Ala)	NC_000002.11:g.60679735C>G	VUS	1 lab	afebd23018
4:140262063 NAA15 T>TAGGTTGGCACGTTTATGGCCTTCTTC	4	140262063	140262091	T	TAGGTTGGCACGTTTATGGCCTTCTTC	NAA15	c.245_270dup	NM_057175.5	NP_476516.1:p.(Arg91ValfsTer26)	NC_000004.11:g.140262066_140262091dup	(Likely) pathogenic	1 lab	aff122d36c
2:48026754 MSH6 AAAAG>A	2	48026754	48026759	AAAAG	A	MSH6	c.1634_1637del	NM_000179.3	NP_000170.1:p.(Lys545ArgfsTer25)	NC_000002.11:g.48026756_48026759del	(Likely) pathogenic	1 lab	aff96269cd
1:202724510 KDM5B G>GT	1	202724510	202724511	G	GT	KDM5B	c.1534dup	NM_001314042.1	NP_001300971.1:p.(Thr512AsnfsTer3)	NC_000001.10:g.202724511dup	(Likely) pathogenic	1 lab	affb5af81c
2:26702462 OTOF C>G	2	26702462	26702462	C	G	OTOF	c.1972G>C	NM_194248.3	NP_919224.1:p.(Glu658Gln)	NC_000002.11:g.26702462C>G	VUS	1 lab	b009b56af2
12:14018981 GRIN2B G>C	12	14018981	14018981	G	C	GRIN2B	c.162C>G	NM_000834.5	NP_000825.2:p.(His54Gln)	NC_000012.11:g.14018981G>C	VUS	1 lab	b00b4e37ba
10:75863700 VCL T>C	10	75863700	75863700	T	C	VCL	c.2131+14T>C	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75863700T>C	(Likely) benign	1 lab	b012d242cf
15:99454627 IGF1R G>T	15	99454627	99454627	G	T	IGF1R	c.1546G>T	NM_000875.5	NP_000866.1:p.(Asp516Tyr)	NC_000015.9:g.99454627G>T	VUS	1 lab	b01746d1c3
6:36653549 CDKN1A G>A	6	36653549	36653549	G	A	CDKN1A	c.467G>A	NM_078467.3	NP_510867.1:p.(Arg156Gln)	NC_000006.11:g.36653549G>A	VUS	1 lab	b0185c2b73
6:7555976 DSP C>T	6	7555976	7555976	C	T	DSP	c.196C>T	NM_004415.4	NP_004406.2:p.(Gln66Ter)	NC_000006.11:g.7555976C>T	(Likely) pathogenic	1 lab	b0189275c1
1:181726207 CACNA1E C>A	1	181726207	181726207	C	A	CACNA1E	c.4274C>A	NM_000721.4	NP_000712.2:p.(Thr1425Asn)	NC_000001.10:g.181726207C>A	(Likely) pathogenic	1 lab	b018cd597c
X:100505543 DRP2 C>G	X	100505543	100505543	C	G	DRP2	c.1672C>G	NM_001939.3	NP_001930.2:p.(Pro558Ala)	NC_000023.10:g.100505543C>G	VUS	1 lab	b01c8d488c
12:65563402 LEMD3 C>T	12	65563402	65563402	C	T	LEMD3	c.26C>T	NM_014319.5	NP_055134.2:p.(Pro9Leu)	NC_000012.11:g.65563402C>T	VUS	1 lab	b01f89473b
9:712292 KANK1 C>T	9	712292	712292	C	T	KANK1	c.1526C>T	NM_015158.5	NP_055973.2:p.(Pro509Leu)	NC_000009.11:g.712292C>T	VUS	1 lab	b029c964d7
8:145154440 SHARPIN G>GT	8	145154440	145154441	G	GT	SHARPIN	c.740dup	NM_030974.4	NP_112236.3:p.(His247GlnfsTer34)	NC_000008.10:g.145154441dup	(Likely) pathogenic	1 lab	b02d32b3f1
11:64571970 MEN1 TCTCA>T	11	64571970	64571977	TCTCA	T	MEN1	c.1665_1668del	NM_130799.2	NP_570711.1:p.(Ser555ArgfsTer3)	NC_000011.9:g.64571974_64571977del	(Likely) pathogenic	1 lab	b035ccdab5
1:173915625 RC3H1 G>A	1	173915625	173915625	G	A	RC3H1	c.2950C>T	NM_172071.4	NP_742068.1:p.(Arg984Cys)	NC_000001.10:g.173915625G>A	VUS	1 lab	b0393cf6b4
13:49027160 RB1 C>G	13	49027160	49027160	C	G	RB1	c.1727C>G	NM_000321.3	NP_000312.2:p.(Ser576Ter)	NC_000013.10:g.49027160C>G	(Likely) pathogenic	1 lab	b03a678efe
8:38285897 FGFR1 T>C	8	38285897	38285897	T	C	FGFR1	c.415A>G	NM_023110.3	NP_075598.2:p.(Lys139Glu)	NC_000008.10:g.38285897T>C	(Likely) benign	1 lab	b03c18dd9a
2:105472575 POU3F3 G>C	2	105472575	105472575	G	C	POU3F3	c.607G>C	NM_006236.3	NP_006227.1:p.(Ala203Pro)	NC_000002.11:g.105472575G>C	VUS	1 lab	b03fd34d4d
X:32361280 DMD G>A	X	32361280	32361280	G	A	DMD	c.5710C>T	NM_004006.3	NP_003997.2:p.(Pro1904Ser)	NC_000023.10:g.32361280G>A	VUS	1 lab	b0407adfa0
12:122268110 SETD1B T>C	12	122268110	122268110	T	C	SETD1B	c.5866T>C	NM_001353345.2	NP_001340274.1:p.(Cys1956Arg)	NC_000012.11:g.122268110T>C	(Likely) pathogenic	1 lab	b042e7e7bd
16:1841784 IGFALS G>A	16	1841784	1841784	G	A	IGFALS	c.635C>T	NM_004970.3	NP_004961.1:p.(Ala212Val)	NC_000016.9:g.1841784G>A	VUS	1 lab	b0489ea85a
6:152782766 SYNE1 G>T	6	152782766	152782766	G	T	SYNE1	c.2381C>A	NM_033071.4	NP_149062.2:p.(Ala794Glu)	NC_000006.11:g.152782766G>T	VUS	1 lab	b04a62b360
17:1630584 WDR81 A>G	17	1630584	1630584	A	G	WDR81	c.2331A>G	NM_001163809.2	NP_001157281.1:p.(Leu777=)	NC_000017.10:g.1630584A>G	(Likely) benign	1 lab	b05263bfdc
9:139265021 CARD9 TCTC>T	9	139265021	139265026	TCTC	T	CARD9	c.757_759del	NM_052813.5	NP_434700.2:p.(Glu253del)	NC_000009.11:g.139265024_139265026del	VUS	1 lab	b05699209f
X:153762312 G6PD G>A	X	153762312	153762312	G	A	G6PD	c.708C>T	NM_001042351.3	NP_001035810.1:p.(Thr236=)	NC_000023.10:g.153762312G>A	(Likely) benign	1 lab	b056d2bb95
9:135801084 TSC1 T>C	9	135801084	135801084	T	C	TSC1	c.253A>G	NM_000368.5	NP_000359.1:p.(Thr85Ala)	NC_000009.11:g.135801084T>C	VUS	1 lab	b057845900
6:29910730 HLA-A T>A	6	29910730	29910730	T	A	HLA-A	c.270T>A	NM_002116.8	NP_002107.3:p.(Asn90Lys)	NC_000006.11:g.29910730T>A	(Likely) benign	1 lab	b05ab03b0b
18:28722069 DSC1 T>A	18	28722069	28722069	T	A	DSC1	c.1153A>T	NM_024421.2	NP_077739.1:p.(Thr385Ser)	NC_000018.9:g.28722069T>A	VUS	1 lab	b05b7c906c
4:85731172 WDFY3 G>T	4	85731172	85731172	G	T	WDFY3	c.2213C>A	NM_014991.6	NP_055806.2:p.(Pro738His)	NC_000004.11:g.85731172G>T	VUS	1 lab	b05bbc518e
21:45717550 AIRE T>C	21	45717550	45717550	T	C	AIRE	c.1578T>C	NM_000383.4	NP_000374.1:p.(Asp526=)	NC_000021.8:g.45717550T>C	(Likely) benign	1 lab	b05fdf1da8
11:61726986 BEST1 T>C	11	61726986	61726986	T	C	BEST1	c.884T>C	NM_004183.4	NP_004174.1:p.(Ile295Thr)	NC_000011.9:g.61726986T>C	(Likely) pathogenic	1 lab	b064a25e13
3:124132484 KALRN C>G	3	124132484	124132484	C	G	KALRN	c.2508C>G	NM_001024660.5	NP_001019831.2:p.(His836Gln)	NC_000003.11:g.124132484C>G	VUS	1 lab	b066bd8a45
13:103281884 TPP2 G>A	13	103281884	103281884	G	A	TPP2	c.1069G>A	NM_001330588.2	NP_001317517.1:p.(Val357Ile)	NC_000013.10:g.103281884G>A	VUS	1 lab	b06e5f30b4
6:56335051 DST C>A	6	56335051	56335051	C	A	DST	c.15994G>T	NM_001144769.5	NP_001138241.1:p.(Ala5332Ser)	NC_000006.11:g.56335051C>A	VUS	1 lab	b07019ad5d
1:164761841 PBX1 T>TCGGCGGCAG	1	164761841	164761866	T	TCGGCGGCAG	PBX1	c.393_401dup	NM_002585.4	NP_002576.1:p.(Ala133_Ala135dup)	NC_000001.10:g.164761858_164761866dup	VUS	1 lab	b070abafbf
1:19201955 ALDH4A1 C>T	1	19201955	19201955	C	T	ALDH4A1	c.1381G>A	NM_003748.4	NP_003739.2:p.(Asp461Asn)	NC_000001.10:g.19201955C>T	(Likely) benign	1 lab	b072eee598
10:17113425 CUBN C>A	10	17113425	17113425	C	A	CUBN	c.2625G>T	NM_001081.4	NP_001072.2:p.(Glu875Asp)	NC_000010.10:g.17113425C>A	VUS	1 lab	b0780c691d
X:19369476 PDHA1 T>A	X	19369476	19369476	T	A	PDHA1	c.369T>A	NM_000284.4	NP_000275.1:p.(Phe123Leu)	NC_000023.10:g.19369476T>A	VUS	1 lab	b078b287ab
9:131367311 SPTAN1 A>G	9	131367311	131367311	A	G	SPTAN1	c.3720-2A>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131367311A>G	VUS	1 lab	b0790a9113
1:230805190 COG2 G>A	1	230805190	230805190	G	A	COG2	c.683G>A	NM_007357.3	NP_031383.1:p.(Arg228Gln)	NC_000001.10:g.230805190G>A	VUS	1 lab	b079716694
9:131022879 GOLGA2 C>G	9	131022879	131022879	C	G	GOLGA2	c.1506G>C	NM_004486.5	NP_004477.4:p.(Trp502Cys)	NC_000009.11:g.131022879C>G	VUS	1 lab	b07ba4f48c
9:108377599 FKTN G>A	9	108377599	108377599	G	A	FKTN	c.821G>A	NM_001079802.2	NP_001073270.1:p.(Arg274Gln)	NC_000009.11:g.108377599G>A	VUS	1 lab	b07c2fe9a2
10:43609043 RET G>A	10	43609043	43609043	G	A	RET	c.1799G>A	NM_020975.6	NP_066124.1:p.(Arg600Gln)	NC_000010.10:g.43609043G>A	VUS	1 lab	b1da4e5257
13:32911811 BRCA2 CA>C	13	32911811	32911815	CA	C	BRCA2	c.3323del	NM_000059.4	NP_000050.3:p.(Lys1108ArgfsTer11)	NC_000013.10:g.32911815del	(Likely) pathogenic	1 lab	b07eb45e6a
6:129835537 LAMA2 A>G	6	129835537	129835537	A	G	LAMA2	c.9008A>G	NM_000426.4	NP_000417.3:p.(Asn3003Ser)	NC_000006.11:g.129835537A>G	VUS	1 lab	b082563346
5:3599534 IRX1 G>A	5	3599534	3599534	G	A	IRX1	c.472G>A	NM_024337.4	NP_077313.3:p.(Gly158Ser)	NC_000005.9:g.3599534G>A	VUS	1 lab	b084161089
17:61498904 TANC2 G>A	17	61498904	61498904	G	A	TANC2	c.5561G>A	NM_025185.4	NP_079461.2:p.(Arg1854Gln)	NC_000017.10:g.61498904G>A	VUS	1 lab	b08e39ad46
8:32505475 NRG1 C>A	8	32505475	32505475	C	A	NRG1	c.239C>A	NM_001322205.2	NP_001309134.1:p.(Pro80His)	NC_000008.10:g.32505475C>A	VUS	1 lab	b08f88d486
9:109686644 ZNF462 AATATC>A	9	109686644	109686651	AATATC	A	ZNF462	c.454_458del	NM_021224.6	NP_067047.4:p.(Ile152AspfsTer26)	NC_000009.11:g.109686647_109686651del	(Likely) pathogenic	1 lab	b08feb8308
11:108151702 ATM TTTTTTAATTTC>T	11	108151702	108151720	TTTTTTAATTTC	T	ATM	c.3403-12_3403-2del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151710_108151720del	VUS	1 lab	b090ab7e30
10:89653795 PTEN CATT>C	10	89653795	89653801	CATT	C	PTEN	c.97_99del	NM_000314.8	NP_000305.3:p.(Ile33del)	NC_000010.10:g.89653799_89653801del	(Likely) pathogenic	1 lab	b09182f1b6
11:2189124 TH T>G	11	2189124	2189124	T	G	TH	c.709A>C	NM_199292.3	NP_954986.2:p.(Ile237Leu)	NC_000011.9:g.2189124T>G	VUS	1 lab	b098ea8154
17:26861500 FOXN1 T>C	17	26861500	26861500	T	C	FOXN1	c.1079T>C	NM_003593.3	NP_003584.2:p.(Leu360Pro)	NC_000017.10:g.26861500T>C	VUS	1 lab	b0a60a238a
15:37390310 MEIS2 G>A	15	37390310	37390310	G	A	MEIS2	c.103C>T	NM_170674.5	NP_733774.1:p.(Pro35Ser)	NC_000015.9:g.37390310G>A	VUS	1 lab	b0a6a02efd
10:135106539 TUBGCP2 G>A	10	135106539	135106539	G	A	TUBGCP2	c.1108+4C>T	NM_001256617.2	NP_001243546.1:p.?	NC_000010.10:g.135106539G>A	(Likely) benign	1 lab	b0a96e8acc
4:152609920 GATB TA>T	4	152609920	152609933	TA	T	GATB	c.1198-6del	NM_004564.3	NP_004555.1:p.?	NC_000004.11:g.152609933del	(Likely) benign	1 lab	b0a998038e
7:79082653 MAGI2 G>A	7	79082653	79082653	G	A	MAGI2	c.-17C>T	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.79082653G>A	VUS	1 lab	b0b15dd30c
9:2644969 VLDLR G>A	9	2644969	2644969	G	A	VLDLR	c.1199G>A	NM_003383.5	NP_003374.3:p.(Cys400Tyr)	NC_000009.11:g.2644969G>A	(Likely) pathogenic	1 lab	b0b19de0f3
19:10265074 DNMT1 C>A	19	10265074	10265074	C	A	DNMT1	c.1914G>T	NM_001130823.3	NP_001124295.1:p.(Lys638Asn)	NC_000019.9:g.10265074C>A	VUS	1 lab	b0b69f3aeb
X:14622463 GLRA2 T>C	X	14622463	14622463	T	C	GLRA2	c.521T>C	NM_002063.4	NP_002054.1:p.(Met174Thr)	NC_000023.10:g.14622463T>C	(Likely) pathogenic	1 lab	b0bc797212
8:145008242 PLEC C>T	8	145008242	145008242	C	T	PLEC	c.1268G>A	NM_000445.5	NP_000436.2:p.(Arg423His)	NC_000008.10:g.145008242C>T	VUS	1 lab	b0bf5a5063
1:226127637 LEFTY2 G>A	1	226127637	226127637	G	A	LEFTY2	c.316C>T	NM_003240.5	NP_003231.2:p.(Arg106Trp)	NC_000001.10:g.226127637G>A	VUS	1 lab	b0c0763ba8
16:2034458 GFER G>A	16	2034458	2034458	G	A	GFER	c.239G>A	NM_005262.3	NP_005253.3:p.(Trp80Ter)	NC_000016.9:g.2034458G>A	VUS	1 lab	b0c1001317
8:68214696 ARFGEF1 T>A	8	68214696	68214696	T	A	ARFGEF1	c.130A>T	NM_006421.5	NP_006412.2:p.(Ile44Leu)	NC_000008.10:g.68214696T>A	VUS	1 lab	b0c2320439
X:39934417 BCOR G>A	X	39934417	39934417	G	A	BCOR	c.182C>T	NM_017745.6	NP_060215.4:p.(Ala61Val)	NC_000023.10:g.39934417G>A	VUS	1 lab	b0c2c17cd3
3:48619942 COL7A1 G>A	3	48619942	48619942	G	A	COL7A1	c.4568C>T	NM_000094.4	NP_000085.1:p.(Pro1523Leu)	NC_000003.11:g.48619942G>A	VUS	1 lab	b0c6ff644a
17:7412393 POLR2A T>G	17	7412393	7412393	T	G	POLR2A	c.3596T>G	NM_000937.5	NP_000928.1:p.(Met1199Arg)	NC_000017.10:g.7412393T>G	VUS	1 lab	b0c76182a9
16:1204007 CACNA1H C>G	16	1204007	1204007	C	G	CACNA1H	c.270C>G	NM_021098.3	NP_066921.2:p.(Arg90=)	NC_000016.9:g.1204007C>G	(Likely) benign	1 lab	b0d0a79d32
X:68836227 EDA CG>C	X	68836227	68836230	CG	C	EDA	c.78del	NM_001399.5	NP_001390.1:p.(Cys27ValfsTer30)	NC_000023.10:g.68836230del	(Likely) pathogenic	1 lab	b0d55aae9b
X:153792576 IKBKG GC>G	X	153792576	153792583	GC	G	IKBKG	c.1167del	NM_001099857.5	NP_001093327.1:p.(Glu390ArgfsTer61)	NC_000023.10:g.153792583del	(Likely) pathogenic	1 lab	b0d5a957f2
19:39227388 CAPN12 C>A	19	39227388	39227388	C	A	CAPN12	c.1363-185G>T	NM_144691.4	NP_653292.2:p.?	NC_000019.9:g.39227388C>A	VUS	1 lab	b0d917d5c0
7:151573589 PRKAG2 C>T	7	151573589	151573589	C	T	PRKAG2	c.114+3G>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151573589C>T	(Likely) benign	1 lab	b0de630e93
5:14769103 ANKH G>A	5	14769103	14769103	G	A	ANKH	c.294C>T	NM_054027.6	NP_473368.1:p.(Ala98=)	NC_000005.9:g.14769103G>A	(Likely) benign	1 lab	b0e171e246
8:17819572 PCM1 C>T	8	17819572	17819572	C	T	PCM1	c.2352C>T	NM_006197.4	NP_006188.4:p.(Pro784=)	NC_000008.10:g.17819572C>T	(Likely) benign	1 lab	b0e365469d
9:2039776 SMARCA2 ACAGCAGCAGCAGCAGCAG>A	9	2039776	2039817	ACAGCAGCAGCAGCAGCAG	A	SMARCA2	c.690_707del	NM_003070.5	NP_003061.3:p.(Gln233_Gln238del)	NC_000009.11:g.2039800_2039817del	VUS	1 lab	b0e76efcd3
8:144999529 PLEC G>A	8	144999529	144999529	G	A	PLEC	c.4649C>T	NM_000445.5	NP_000436.2:p.(Ala1550Val)	NC_000008.10:g.144999529G>A	VUS	1 lab	b0e9014693
X:47060709 UBA1 C>T	X	47060709	47060709	C	T	UBA1	c.622C>T	NM_003334.4	NP_003325.2:p.(Leu208Phe)	NC_000023.10:g.47060709C>T	VUS	1 lab	b0ec6b55ac
2:163134786 IFIH1 C>A	2	163134786	163134786	C	A	IFIH1	c.1694G>T	NM_022168.4	NP_071451.2:p.(Cys565Phe)	NC_000002.11:g.163134786C>A	VUS	1 lab	b0f054ad12
16:2106706 TSC2 C>T	16	2106706	2106706	C	T	TSC2	c.710C>T	NM_000548.5	NP_000539.2:p.(Pro237Leu)	NC_000016.9:g.2106706C>T	VUS	1 lab	b0f20fedc0
15:71698701 THSD4 C>G	15	71698701	71698701	C	G	THSD4	c.1016-5325C>G	NM_001394532.1	NP_001381461.1:p.?	NC_000015.9:g.71698701C>G	VUS	1 lab	b0f452795e
X:49103246 CCDC22 C>T	X	49103246	49103246	C	T	CCDC22	c.769C>T	NM_014008.5	NP_054727.1:p.(Arg257Cys)	NC_000023.10:g.49103246C>T	VUS	1 lab	b0f668f0d6
13:32910401 BRCA2 G>T	13	32910401	32910401	G	T	BRCA2	c.1910-1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32910401G>T	(Likely) pathogenic	1 lab	b0fa3ea833
2:179468993 TTN C>T	2	179468993	179468993	C	T	TTN	c.46717G>A	NM_133378.4	NP_596869.4:p.(Val15573Ile)	NC_000002.11:g.179468993C>T	VUS	1 lab	b0fd76d687
X:70517682 NONO G>C	X	70517682	70517682	G	C	NONO	c.1029-4G>C	NM_001145408.2	NP_001138880.1:p.?	NC_000023.10:g.70517682G>C	(Likely) benign	1 lab	b0feac2699
3:37059011 MLH1 T>A	3	37059011	37059011	T	A	MLH1	c.805T>A	NM_000249.4	NP_000240.1:p.(Ser269Thr)	NC_000003.11:g.37059011T>A	VUS	1 lab	b1018b6a29
2:100175381 AFF3 C>G	2	100175381	100175381	C	G	AFF3	c.3241G>C	NM_002285.3	NP_002276.2:p.(Asp1081His)	NC_000002.11:g.100175381C>G	VUS	1 lab	b106e5d86b
20:2443403 SNRPB C>T	20	2443403	2443403	C	T	SNRPB	c.564G>A	NM_003091.4	NP_003082.1:p.(Met188Ile)	NC_000020.10:g.2443403C>T	VUS	1 lab	b10783a71d
15:28231793 OCA2 T>C	15	28231793	28231793	T	C	OCA2	c.1183-4A>G	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28231793T>C	(Likely) benign	1 lab	b1079100bc
2:179402529 TTN G>A	2	179402529	179402529	G	A	TTN	c.99405C>T	NM_001267550.2	NP_001254479.2:p.(Tyr33135=)	NC_000002.11:g.179402529G>A	(Likely) benign	1 lab	b10ac7ab33
X:21675849 KLHL34 G>T	X	21675849	21675849	G	T	KLHL34	c.58C>A	NM_153270.3	NP_695002.1:p.(Gln20Lys)	NC_000023.10:g.21675849G>T	VUS	1 lab	b119e9cbb8
2:179421832 TTN T>C	2	179421832	179421832	T	C	TTN	c.88049A>G	NM_001267550.2	NP_001254479.2:p.(Asn29350Ser)	NC_000002.11:g.179421832T>C	VUS	1 lab	b11d3132de
3:9781465 BRPF1 A>G	3	9781465	9781465	A	G	BRPF1	c.1382A>G	NM_001003694.2	NP_001003694.1:p.(His461Arg)	NC_000003.11:g.9781465A>G	(Likely) benign	1 lab	b120f43c34
19:45997985 RTN2 C>G	19	45997985	45997985	C	G	RTN2	c.358G>C	NM_005619.5	NP_005610.1:p.(Glu120Gln)	NC_000019.9:g.45997985C>G	VUS	1 lab	b121a1a395
6:31085200 CDSN A>G	6	31085200	31085200	A	G	CDSN	c.192T>C	NM_001264.5	NP_001255.4:p.(Gly64=)	NC_000006.11:g.31085200A>G	(Likely) benign	1 lab	b128117743
10:28900770 WAC T>TC	10	28900770	28900772	T	TC	WAC	c.1223dup	NM_100264.3	NP_567822.1:p.(Arg409LysfsTer8)	NC_000010.10:g.28900772dup	(Likely) pathogenic	1 lab	b12b57bb2f
7:87031484 ABCB4 A>T	7	87031484	87031484	A	T	ABCB4	c.3789T>A	NM_018849.3	NP_061337.1:p.(His1263Gln)	NC_000007.13:g.87031484A>T	VUS	1 lab	b12d2455cc
11:17434284 ABCC8 G>A	11	17434284	17434284	G	A	ABCC8	c.2485C>T	NM_000352.6	NP_000343.2:p.(Leu829=)	NC_000011.9:g.17434284G>A	(Likely) benign	1 lab	b1320edc23
7:23164526 KLHL7 C>G	7	23164526	23164526	C	G	KLHL7	c.173+126C>G	NM_018846.5	NP_061334.4:p.?	NC_000007.13:g.23164526C>G	(Likely) benign	1 lab	b1328aca54
3:50386189 NPRL2 G>A	3	50386189	50386189	G	A	NPRL2	c.610C>T	NM_006545.5	NP_006536.3:p.(Arg204Cys)	NC_000003.11:g.50386189G>A	(Likely) benign	1 lab	b138477bf8
1:241665870 FH C>T	1	241665870	241665870	C	T	FH	c.1109G>A	NM_000143.4	NP_000134.2:p.(Gly370Asp)	NC_000001.10:g.241665870C>T	(Likely) pathogenic	1 lab	b1398e2953
2:179466097 TTN G>C	2	179466097	179466097	G	C	TTN	c.55627C>G	NM_001267550.2	NP_001254479.2:p.(Leu18543Val)	NC_000002.11:g.179466097G>C	VUS	1 lab	b139c3e6f6
9:90317959 DAPK1 A>G	9	90317959	90317959	A	G	DAPK1	c.2887A>G	NM_004938.4	NP_004929.2:p.(Thr963Ala)	NC_000009.11:g.90317959A>G	VUS	1 lab	b13fdc5078
X:123159734 STAG2 T>C	X	123159734	123159734	T	C	STAG2	c.89T>C	NM_001042749.2	NP_001036214.1:p.(Ile30Thr)	NC_000023.10:g.123159734T>C	VUS	1 lab	b146aaca2d
1:237791131 RYR2 A>G	1	237791131	237791131	A	G	RYR2	c.6191A>G	NM_001035.3	NP_001026.2:p.(Glu2064Gly)	NC_000001.10:g.237791131A>G	VUS	1 lab	b14ac1c6a3
12:95365253 NDUFA12 ATCT>A	12	95365253	95365260	ATCT	A	NDUFA12	c.398_400del	NM_018838.5	NP_061326.1:p.(Lys133del)	NC_000012.11:g.95365258_95365260del	VUS	1 lab	b151558b95
11:77850539 ALG8 C>T	11	77850539	77850539	C	T	ALG8	c.95+1G>A	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77850539C>T	(Likely) pathogenic	1 lab	b153fecb0a
13:111329354 CARS2 G>A	13	111329354	111329354	G	A	CARS2	c.752C>T	NM_024537.4	NP_078813.1:p.(Pro251Leu)	NC_000013.10:g.111329354G>A	(Likely) pathogenic	1 lab	b1542f7093
8:55632762 RP1 C>T	8	55632762	55632762	C	T	RP1	c.2285C>T	NM_001375654.1	NP_001362583.1:p.(Thr762Met)	NC_000008.10:g.55632762C>T	(Likely) benign	1 lab	b154cdc6a5
1:11317012 MTOR T>C	1	11317012	11317012	T	C	MTOR	c.482A>G	NM_004958.4	NP_004949.1:p.(Asn161Ser)	NC_000001.10:g.11317012T>C	(Likely) benign	1 lab	b157f10c5c
7:107531730 DLD C>T	7	107531730	107531730	C	T	DLD	c.35C>T	NM_000108.5	NP_000099.2:p.(Ala12Val)	NC_000007.13:g.107531730C>T	VUS	1 lab	b15a7fc7c3
18:29172983 TTR C>G	18	29172983	29172983	C	G	TTR	c.194C>G	NM_000371.4	NP_000362.1:p.(Ala65Gly)	NC_000018.9:g.29172983C>G	(Likely) pathogenic	1 lab	b1615c3916
9:109686473 ZNF462 G>T	9	109686473	109686473	G	T	ZNF462	c.280G>T	NM_021224.6	NP_067047.4:p.(Gly94Cys)	NC_000009.11:g.109686473G>T	VUS	1 lab	b16260cdfe
8:145009179 PLEC G>A	8	145009179	145009179	G	A	PLEC	c.1236C>T	NM_201380.4	NP_958782.1:p.(Asn412=)	NC_000008.10:g.145009179G>A	(Likely) benign	1 lab	b1654b5785
9:6588629 GLDC T>G	9	6588629	6588629	T	G	GLDC	c.1654A>C	NM_000170.3	NP_000161.2:p.(Met552Leu)	NC_000009.11:g.6588629T>G	VUS	1 lab	b165c69748
17:7752083 KDM6B C>G	17	7752083	7752083	C	G	KDM6B	c.2477C>G	NM_001080424.2	NP_001073893.1:p.(Ser826Cys)	NC_000017.10:g.7752083C>G	(Likely) benign	1 lab	b16758b876
12:49431465 KMT2D C>A	12	49431465	49431465	C	A	KMT2D	c.9674G>T	NM_003482.4	NP_003473.3:p.(Gly3225Val)	NC_000012.11:g.49431465C>A	VUS	1 lab	b16993993e
11:73849774 C2CD3 G>C	11	73849774	73849774	G	C	C2CD3	c.946C>G	NM_015531.6	NP_056346.3:p.(Leu316Val)	NC_000011.9:g.73849774G>C	(Likely) benign	1 lab	b16e10e944
2:241526447 CAPN10 A>C	2	241526447	241526447	A	C	CAPN10	c.119A>C	NM_023083.4	NP_075571.2:p.(Asp40Ala)	NC_000002.11:g.241526447A>C	VUS	1 lab	b16fc8ac50
12:115114249 TBX3 C>T	12	115114249	115114249	C	T	TBX3	c.908G>A	NM_005996.4	NP_005987.3:p.(Arg303Lys)	NC_000012.11:g.115114249C>T	VUS	1 lab	b1789fb4a9
10:50686507 ERCC6 C>T	10	50686507	50686507	C	T	ERCC6	c.2179G>A	NM_000124.4	NP_000115.1:p.(Ala727Thr)	NC_000010.10:g.50686507C>T	VUS	1 lab	b17972cbd0
16:3647426 SLX4 T>C	16	3647426	3647426	T	C	SLX4	c.1637A>G	NM_032444.4	NP_115820.2:p.(Tyr546Cys)	NC_000016.9:g.3647426T>C	(Likely) benign	1 lab	b18139358d
22:36716363 MYH9 T>C	22	36716363	36716363	T	C	MYH9	c.914A>G	NM_002473.6	NP_002464.1:p.(Asn305Ser)	NC_000022.10:g.36716363T>C	VUS	1 lab	b1823411d7
11:134131650 ACAD8 G>A	11	134131650	134131650	G	A	ACAD8	c.958G>A	NM_014384.3	NP_055199.1:p.(Ala320Thr)	NC_000011.9:g.134131650G>A	VUS	1 lab	b1829310c4
15:28508232 HERC2 C>T	15	28508232	28508232	C	T	HERC2	c.1954G>A	NM_004667.6	NP_004658.3:p.(Glu652Lys)	NC_000015.9:g.28508232C>T	VUS	1 lab	b18bf220b9
14:60921783 C14orf39 G>A	14	60921783	60921783	G	A	C14orf39	c.1439C>T	NM_174978.3	NP_777638.3:p.(Ser480Phe)	NC_000014.8:g.60921783G>A	VUS	1 lab	b190aa504a
14:105168070 INF2 G>A	14	105168070	105168070	G	A	INF2	c.368G>A	NM_022489.4	NP_071934.3:p.(Gly123Asp)	NC_000014.8:g.105168070G>A	VUS	1 lab	b192050943
17:33434138 RAD51D A>T	17	33434138	33434138	A	T	RAD51D	c.409T>A	NM_001142571.2	NP_001136043.1:p.(Cys137Ser)	NC_000017.10:g.33434138A>T	VUS	1 lab	b192b54c6b
21:32638679 TIAM1 C>T	21	32638679	32638679	C	T	TIAM1	c.610G>A	NM_003253.3	NP_003244.2:p.(Glu204Lys)	NC_000021.8:g.32638679C>T	VUS	1 lab	b1954407bc
18:21123536 NPC1 TAAA>T	18	21123536	21123554	TAAA	T	NPC1	c.2131-6_2131-4del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21123552_21123554del	(Likely) benign	1 lab	d97142895f
X:109459832 AMMECR1 T>C	X	109459832	109459832	T	C	AMMECR1	c.613A>G	NM_015365.3	NP_056180.1:p.(Met205Val)	NC_000023.10:g.109459832T>C	(Likely) benign	1 lab	b19f3c412f
2:241660418 KIF1A G>A	2	241660418	241660418	G	A	KIF1A	c.4478C>T	NM_004321.8	NP_004312.2:p.(Ser1493Leu)	NC_000002.11:g.241660418G>A	VUS	1 lab	b1a02455aa
17:57738909 CLTC GGACAGCTCAACAAA>G	17	57738909	57738923	GGACAGCTCAACAAA	G	CLTC	c.1286_1299del	NM_001288653.2	NP_001275582.1:p.(Gly429ValfsTer8)	NC_000017.10:g.57738910_57738923del	(Likely) pathogenic	1 lab	b1a144abb1
19:19465215 MAU2 G>A	19	19465215	19465215	G	A	MAU2	c.1600G>A	NM_015329.4	NP_056144.3:p.(Asp534Asn)	NC_000019.9:g.19465215G>A	VUS	1 lab	b1a4afdc05
2:109513413 EDAR C>A	2	109513413	109513413	C	A	EDAR	c.1297G>T	NM_022336.4	NP_071731.1:p.(Glu433Ter)	NC_000002.11:g.109513413C>A	VUS	1 lab	b1a78516bc
7:128484267 FLNC G>C	7	128484267	128484267	G	C	FLNC	c.3139G>C	NM_001458.5	NP_001449.3:p.(Val1047Leu)	NC_000007.13:g.128484267G>C	VUS	1 lab	b1a7a5fb7a
6:32557483 HLA-DRB1 T>C	6	32557483	32557483	T	C	HLA-DRB1	c.37A>G	NM_002124.4	NP_002115.2:p.(Thr13Ala)	NC_000006.11:g.32557483T>C	(Likely) benign	1 lab	b1a7c20c1e
10:72195152 NODAL A>G	10	72195152	72195152	A	G	NODAL	c.781T>C	NM_018055.5	NP_060525.3:p.(Trp261Arg)	NC_000010.10:g.72195152A>G	VUS	1 lab	b1ad79fc52
5:36976198 NIPBL C>G	5	36976198	36976198	C	G	NIPBL	c.1189C>G	NM_133433.4	NP_597677.2:p.(Pro397Ala)	NC_000005.9:g.36976198C>G	VUS	1 lab	b1b136d5c4
2:179425977 TTN T>C	2	179425977	179425977	T	C	TTN	c.84882A>G	NM_001267550.2	NP_001254479.2:p.(Leu28294=)	NC_000002.11:g.179425977T>C	(Likely) benign	1 lab	b1b19eeb65
2:179632571 TTN A>T	2	179632571	179632571	A	T	TTN	c.9386T>A	NM_001267550.2	NP_001254479.2:p.(Val3129Glu)	NC_000002.11:g.179632571A>T	VUS	1 lab	b1b1fdd552
3:37067193 MLH1 G>A	3	37067193	37067193	G	A	MLH1	c.381G>A	NM_001258274.3	NP_001245203.1:p.(Ser127=)	NC_000003.11:g.37067193G>A	(Likely) benign	1 lab	b1b340bbc8
8:145024709 PLEC G>A	8	145024709	145024709	G	A	PLEC	c.166C>T	NM_201380.4	NP_958782.1:p.(Arg56Trp)	NC_000008.10:g.145024709G>A	(Likely) benign	1 lab	b1b5359ec0
22:38525584 PLA2G6 G>C	22	38525584	38525584	G	C	PLA2G6	c.1078-15C>G	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38525584G>C	(Likely) benign	1 lab	b1bb4a984c
7:1976457 MAD1L1 C>T	7	1976457	1976457	C	T	MAD1L1	c.1673G>A	NM_003550.3	NP_003541.2:p.(Arg558His)	NC_000007.13:g.1976457C>T	(Likely) benign	1 lab	b1bd3e4966
1:2340173 PEX10 C>T	1	2340173	2340173	C	T	PEX10	c.318G>A	NM_153818.2	NP_722540.1:p.(Leu106=)	NC_000001.10:g.2340173C>T	(Likely) benign	1 lab	b1bf6b5421
6:45480010 RUNX2 C>T	6	45480010	45480010	C	T	RUNX2	c.887C>T	NM_001024630.4	NP_001019801.3:p.(Pro296Leu)	NC_000006.11:g.45480010C>T	(Likely) benign	1 lab	b1bf6d8660
2:109513566 EDAR C>T	2	109513566	109513566	C	T	EDAR	c.1144G>A	NM_022336.4	NP_071731.1:p.(Gly382Ser)	NC_000002.11:g.109513566C>T	(Likely) pathogenic	1 lab	b1c31a1fa7
12:57496252 STAT6 G>A	12	57496252	57496252	G	A	STAT6	c.1333C>T	NM_001178078.2	NP_001171549.1:p.(Arg445Trp)	NC_000012.11:g.57496252G>A	VUS	1 lab	b1cba2b1dc
10:79764556 POLR3A T>C	10	79764556	79764556	T	C	POLR3A	c.2165A>G	NM_007055.4	NP_008986.2:p.(Lys722Arg)	NC_000010.10:g.79764556T>C	VUS	1 lab	b1cbafc21f
18:28916522 DSG1 TG>T	18	28916522	28916525	TG	T	DSG1	c.1214del	NM_001942.4	NP_001933.2:p.(Gly405GlufsTer4)	NC_000018.9:g.28916525del	(Likely) pathogenic	1 lab	b1ccfa47d0
3:184041214 EIF4G1 C>T	3	184041214	184041214	C	T	EIF4G1	c.2107C>T	NM_198241.3	NP_937884.2:p.(Arg703Cys)	NC_000003.11:g.184041214C>T	VUS	1 lab	b1ceae21f6
2:220286162 DES G>A	2	220286162	220286162	G	A	DES	c.1124G>A	NM_001927.4	NP_001918.3:p.(Arg375Gln)	NC_000002.11:g.220286162G>A	VUS	1 lab	b1d39eeb21
1:209795917 LAMB3 G>A	1	209795917	209795917	G	A	LAMB3	c.2665C>T	NM_000228.3	NP_000219.2:p.(Arg889Trp)	NC_000001.10:g.209795917G>A	VUS	1 lab	b1d8224e1f
17:78263514 RNF213 G>A	17	78263514	78263514	G	A	RNF213	c.990G>A	NM_001256071.3	NP_001243000.2:p.(Lys330=)	NC_000017.10:g.78263514G>A	(Likely) benign	1 lab	b1dde0fea0
17:41256173 BRCA1 CT>C	17	41256173	41256177	CT	C	BRCA1	c.406del	NM_007294.4	NP_009225.1:p.(Arg136AspfsTer27)	NC_000017.10:g.41256177del	(Likely) pathogenic	1 lab	b1df65dedd
17:7320631 NLGN2 C>T	17	7320631	7320631	C	T	NLGN2	c.2021C>T	NM_020795.4	NP_065846.1:p.(Thr674Met)	NC_000017.10:g.7320631C>T	VUS	1 lab	b1e48773e3
1:2160231 SKI G>A	1	2160231	2160231	G	A	SKI	c.26G>A	NM_003036.4	NP_003027.1:p.(Gly9Asp)	NC_000001.10:g.2160231G>A	VUS	1 lab	b1e768ad55
16:67671646 CTCF A>G	16	67671646	67671646	A	G	CTCF	c.2055A>G	NM_006565.4	NP_006556.1:p.(Ile685Met)	NC_000016.9:g.67671646A>G	VUS	1 lab	b1e884ee7d
17:57739009 CLTC G>A	17	57739009	57739009	G	A	CLTC	c.1380+5G>A	NM_001288653.2	NP_001275582.1:p.?	NC_000017.10:g.57739009G>A	(Likely) benign	1 lab	b1f0c0498a
X:153135568 L1CAM A>G	X	153135568	153135568	A	G	L1CAM	c.934T>C	NM_000425.5	NP_000416.1:p.(Cys312Arg)	NC_000023.10:g.153135568A>G	(Likely) pathogenic	1 lab	b1f6d51554
X:9733845 GPR143 G>A	X	9733845	9733845	G	A	GPR143	c.13C>T	NM_000273.3	NP_000264.2:p.(Arg5Cys)	NC_000023.10:g.9733845G>A	(Likely) pathogenic	1 lab	b1f87925c1
6:7584181 DSP GA>G	6	7584181	7584182	GA	G	DSP	c.6687del	NM_004415.4	NP_004406.2:p.(Arg2229SerfsTer32)	NC_000006.11:g.7584182del	(Likely) pathogenic	1 lab	b1f9c65c5e
1:108681790 SLC25A24 G>C	1	108681790	108681790	G	C	SLC25A24	c.1139C>G	NM_013386.5	NP_037518.3:p.(Ser380Cys)	NC_000001.10:g.108681790G>C	(Likely) benign	1 lab	b1fc176d9b
10:115389448 NRAP C>T	10	115389448	115389448	C	T	NRAP	c.1939G>A	NM_001261463.2	NP_001248392.1:p.(Ala647Thr)	NC_000010.10:g.115389448C>T	VUS	1 lab	b1ff0302b3
X:70360588 MED12 G>GAGCAGCAGCAGC	X	70360588	70360607	G	GAGCAGCAGCAGC	MED12	c.6156_6167dup	NM_005120.3	NP_005111.2:p.(Gln2073_Gln2076dup)	NC_000023.10:g.70360596_70360607dup	VUS	1 lab	b207e11aad
2:37229444 HEATR5B C>T	2	37229444	37229444	C	T	HEATR5B	c.5317+5G>A	NM_019024.3	NP_061897.1:p.?	NC_000002.11:g.37229444C>T	VUS	1 lab	b20b21df82
1:3328655 PRDM16 G>A	1	3328655	3328655	G	A	PRDM16	c.1894G>A	NM_022114.4	NP_071397.3:p.(Asp632Asn)	NC_000001.10:g.3328655G>A	VUS	1 lab	b210a647c3
5:54579038 DHX29 C>G	5	54579038	54579038	C	G	DHX29	c.1958G>C	NM_019030.4	NP_061903.2:p.(Gly653Ala)	NC_000005.9:g.54579038C>G	VUS	1 lab	b21162b0af
7:24756951 GSDME C>T	7	24756951	24756951	C	T	GSDME	c.619G>A	NM_004403.3	NP_004394.1:p.(Val207Met)	NC_000007.13:g.24756951C>T	(Likely) benign	1 lab	b214c11272
2:39250037 SOS1 T>C	2	39250037	39250037	T	C	SOS1	c.1532A>G	NM_005633.4	NP_005624.2:p.(Lys511Arg)	NC_000002.11:g.39250037T>C	VUS	1 lab	b2160676ba
X:123019480 XIAP G>T	X	123019480	123019480	G	T	XIAP	c.-32-1G>T	NM_001167.4	NP_001158.2:p.?	NC_000023.10:g.123019480G>T	VUS	1 lab	b62d9a92af
6:42156443 GUCA1B G>C	6	42156443	42156443	G	C	GUCA1B	c.234C>G	NM_002098.6	NP_002089.4:p.(Tyr78Ter)	NC_000006.11:g.42156443G>C	VUS	1 lab	b216b83422
15:44877800 SPG11 TAA>T	15	44877800	44877821	TAA	T	SPG11	c.5121+32_5121+33del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44877820_44877821del	(Likely) benign	1 lab	b216c4ec62
7:135300727 NUP205 G>A	7	135300727	135300727	G	A	NUP205	c.3374G>A	NM_015135.3	NP_055950.2:p.(Arg1125Lys)	NC_000007.13:g.135300727G>A	VUS	1 lab	b21be45d6f
6:126073015 HEY2 AAAG>A	6	126073015	126073018	AAAG	A	HEY2	c.153_155del	NM_012259.3	NP_036391.1:p.(Arg53del)	NC_000006.11:g.126073016_126073018del	VUS	1 lab	b222964282
20:57480483 GNAS C>T	20	57480483	57480483	C	T	GNAS	c.2407C>T	NM_080425.4	NP_536350.2:p.(Arg803Cys)	NC_000020.10:g.57480483C>T	VUS	1 lab	b226533ff6
4:100540245 MTTP G>A	4	100540245	100540245	G	A	MTTP	c.2332G>A	NM_000253.4	NP_000244.2:p.(Val778Met)	NC_000004.11:g.100540245G>A	VUS	1 lab	b2288f501b
10:75843172 VCL A>T	10	75843172	75843172	A	T	VCL	c.923A>T	NM_014000.3	NP_054706.1:p.(Lys308Ile)	NC_000010.10:g.75843172A>T	VUS	1 lab	b22b2b0539
14:36987111 NKX2-1 T>A	14	36987111	36987111	T	A	NKX2-1	c.578A>T	NM_001079668.3	NP_001073136.1:p.(Lys193Met)	NC_000014.8:g.36987111T>A	VUS	1 lab	b239db529a
22:23627369 BCR A>G	22	23627369	23627369	A	G	BCR	c.2387A>G	NM_004327.4	NP_004318.3:p.(Asn796Ser)	NC_000022.10:g.23627369A>G	(Likely) benign	1 lab	b23abb70f4
X:22094581 PHEX G>C	X	22094581	22094581	G	C	PHEX	c.425G>C	NM_000444.6	NP_000435.3:p.(Cys142Ser)	NC_000023.10:g.22094581G>C	(Likely) pathogenic	1 lab	b23b4f0703
7:23015831 HYCC1 T>C	7	23015831	23015831	T	C	HYCC1	c.624A>G	NM_032581.4	NP_115970.2:p.(Ser208=)	NC_000007.13:g.23015831T>C	(Likely) benign	1 lab	b23b8bc596
1:237798186 RYR2 T>C	1	237798186	237798186	T	C	RYR2	c.6689-3T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237798186T>C	(Likely) benign	1 lab	b242a23ba6
15:77328272 PSTPIP1 C>T	15	77328272	77328272	C	T	PSTPIP1	c.1115C>T	NM_003978.5	NP_003969.2:p.(Ala372Val)	NC_000015.9:g.77328272C>T	(Likely) benign	1 lab	b2443cd381
9:35092136 PIGO A>G	9	35092136	35092136	A	G	PIGO	c.1748T>C	NM_032634.4	NP_116023.2:p.(Leu583Pro)	NC_000009.11:g.35092136A>G	(Likely) pathogenic	1 lab	b24757037e
9:443437 DOCK8 G>A	9	443437	443437	G	A	DOCK8	c.5501G>A	NM_203447.4	NP_982272.2:p.(Gly1834Asp)	NC_000009.11:g.443437G>A	VUS	1 lab	b24880b471
22:29095857 CHEK2 A>G	22	29095857	29095857	A	G	CHEK2	c.977T>C	NM_007194.4	NP_009125.1:p.(Leu326Pro)	NC_000022.10:g.29095857A>G	VUS	1 lab	b24bb6aa00
17:44115935 KANSL1 C>A	17	44115935	44115935	C	A	KANSL1	c.2510G>T	NM_001193466.2	NP_001180395.1:p.(Ser837Ile)	NC_000017.10:g.44115935C>A	VUS	1 lab	b24da490b2
17:65132279 HELZ G>A	17	65132279	65132279	G	A	HELZ	c.2989C>T	NM_014877.4	NP_055692.3:p.(Arg997Cys)	NC_000017.10:g.65132279G>A	VUS	1 lab	b24ee0632a
X:79938041 BRWD3 ACT>A	X	79938041	79938045	ACT	A	BRWD3	c.4318_4319del	NM_153252.5	NP_694984.5:p.(Gln1441GlufsTer20)	NC_000023.10:g.79938044_79938045del	(Likely) pathogenic	1 lab	b2522eead3
20:35563541 SAMHD1 G>A	20	35563541	35563541	G	A	SAMHD1	c.400C>T	NM_015474.4	NP_056289.2:p.(Arg134Ter)	NC_000020.10:g.35563541G>A	(Likely) pathogenic	1 lab	b25cd73c2b
7:55268930 EGFR G>A	7	55268930	55268930	G	A	EGFR	c.2996G>A	NM_005228.5	NP_005219.2:p.(Arg999His)	NC_000007.13:g.55268930G>A	VUS	1 lab	b25f1e6dc8
11:108124704 ATM G>A	11	108124704	108124704	G	A	ATM	c.2062G>A	NM_001351834.2	NP_001338763.1:p.(Glu688Lys)	NC_000011.9:g.108124704G>A	VUS	1 lab	b26144af8a
3:71037235 FOXP1 A>C	3	71037235	71037235	A	C	FOXP1	c.1063-7T>G	NM_001244808.3	NP_001231737.1:p.?	NC_000003.11:g.71037235A>C	(Likely) benign	1 lab	b264e71132
18:29175102 TTR G>T	18	29175102	29175102	G	T	TTR	c.220G>T	NM_000371.4	NP_000362.1:p.(Glu74Ter)	NC_000018.9:g.29175102G>T	(Likely) pathogenic	1 lab	b269d5e54d
10:104309710 SUFU C>A	10	104309710	104309710	C	A	SUFU	c.318-17C>A	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104309710C>A	(Likely) benign	1 lab	b26a84fda6
2:179605879 TTN AAGCAGC>A	2	179605879	179605885	AAGCAGC	A	TTN	c.12075_12080del	NM_001267550.2	NP_001254479.2:p.(Glu4025_Leu4027delinsAsp)	NC_000002.11:g.179605880_179605885del	VUS	1 lab	b26b876c58
5:147491324 SPINK5 T>C	5	147491324	147491324	T	C	SPINK5	c.1693-7T>C	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147491324T>C	(Likely) benign	1 lab	b26bf53dbd
17:48704044 CACNA1G C>T	17	48704044	48704044	C	T	CACNA1G	c.7066C>T	NM_018896.5	NP_061496.2:p.(Pro2356Ser)	NC_000017.10:g.48704044C>T	(Likely) benign	1 lab	b26ce8b2e1
3:128614133 ACAD9 C>T	3	128614133	128614133	C	T	ACAD9	c.347-20C>T	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128614133C>T	(Likely) benign	1 lab	b26d8b9207
4:95186055 SMARCAD1 A>G	4	95186055	95186055	A	G	SMARCAD1	c.1479A>G	NM_001128429.3	NP_001121901.1:p.(Gln493=)	NC_000004.11:g.95186055A>G	(Likely) benign	1 lab	b27148b28c
X:53432756 SMC1A T>C	X	53432756	53432756	T	C	SMC1A	c.1678A>G	NM_006306.4	NP_006297.2:p.(Ile560Val)	NC_000023.10:g.53432756T>C	VUS	1 lab	b271ac9081
18:32455193 DTNA G>A	18	32455193	32455193	G	A	DTNA	c.1663-10G>A	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32455193G>A	(Likely) benign	1 lab	b27ed497df
1:153234153 LORICRIN G>C	1	153234153	153234153	G	C	LORICRIN	c.728G>C	NM_000427.3	NP_000418.2:p.(Ser243Thr)	NC_000001.10:g.153234153G>C	(Likely) benign	1 lab	b2942df4bb
12:7241475 C1R C>T	12	7241475	7241475	C	T	C1R	c.876G>A	NM_001733.7	NP_001724.4:p.(Ser292=)	NC_000012.11:g.7241475C>T	VUS	1 lab	b29726f1ec
15:51693940 GLDN G>A	15	51693940	51693940	G	A	GLDN	c.1178G>A	NM_181789.4	NP_861454.2:p.(Arg393Lys)	NC_000015.9:g.51693940G>A	(Likely) pathogenic	1 lab	b29d6c2f67
1:32827042 FAM229A C>T	1	32827042	32827042	C	T	FAM229A	c.376G>A	NM_001167676.1	NP_001161148.1:p.(Ala126Thr)	NC_000001.10:g.32827042C>T	VUS	1 lab	b29e42c028
6:6321128 F13A1 T>C	6	6321128	6321128	T	C	F13A1				NC_000006.11:g.6321128T>C	(Likely) benign	1 lab	b2a1cc0264
13:48953787 RB1 G>T	13	48953787	48953787	G	T	RB1	c.1389+1G>T	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48953787G>T	(Likely) pathogenic	1 lab	b2a2549f43
18:31319409 ASXL3 T>TA	18	31319409	31319410	T	TA	ASXL3	c.2041_2042insA	NM_030632.3	NP_085135.1:p.(Ser681TyrfsTer8)	NC_000018.9:g.31319409_31319410insA	(Likely) pathogenic	1 lab	b2a57b5a89
9:101552632 ANKS6 C>T	9	101552632	101552632	C	T	ANKS6	c.616G>A	NM_173551.5	NP_775822.3:p.(Val206Met)	NC_000009.11:g.101552632C>T	VUS	1 lab	b2a84c7a96
1:173878832 SERPINC1 T>C	1	173878832	173878832	T	C	SERPINC1	c.1011A>G	NM_000488.4	NP_000479.1:p.(Gln337=)	NC_000001.10:g.173878832T>C	(Likely) benign	1 lab	b2ab8f569c
10:97951797 BLNK C>T	10	97951797	97951797	C	T	BLNK	c.1303G>A	NM_013314.4	NP_037446.1:p.(Val435Ile)	NC_000010.10:g.97951797C>T	VUS	1 lab	b2ae9dd74d
3:48616837 COL7A1 C>T	3	48616837	48616837	C	T	COL7A1	c.5272G>A	NM_000094.4	NP_000085.1:p.(Gly1758Arg)	NC_000003.11:g.48616837C>T	(Likely) pathogenic	1 lab	b2af30cf25
X:73815657 RLIM C>A	X	73815657	73815657	C	A	RLIM	c.156G>T	NM_183353.3	NP_899196.1:p.(Leu52Phe)	NC_000023.10:g.73815657C>A	VUS	1 lab	b2af448eb5
6:129748957 LAMA2 A>T	6	129748957	129748957	A	T	LAMA2	c.5926A>T	NM_000426.4	NP_000417.3:p.(Arg1976Trp)	NC_000006.11:g.129748957A>T	VUS	1 lab	b2afc9ab09
X:53561649 HUWE1 C>T	X	53561649	53561649	C	T	HUWE1	c.12659G>A	NM_031407.7	NP_113584.3:p.(Arg4220His)	NC_000023.10:g.53561649C>T	VUS	1 lab	b2b0e88bb4
11:22249037 ANO5 G>C	11	22249037	22249037	G	C	ANO5	c.553G>C	NM_213599.3	NP_998764.1:p.(Glu185Gln)	NC_000011.9:g.22249037G>C	(Likely) benign	1 lab	b2b626a638
14:45665507 FANCM C>A	14	45665507	45665507	C	A	FANCM	c.5473C>A	NM_020937.4	NP_065988.1:p.(His1825Asn)	NC_000014.8:g.45665507C>A	VUS	1 lab	b2babbd0b9
7:87035688 ABCB4 G>A	7	87035688	87035688	G	A	ABCB4	c.3423C>T	NM_018849.3	NP_061337.1:p.(Asp1141=)	NC_000007.13:g.87035688G>A	(Likely) benign	1 lab	b2c200c3e7
19:13423523 CACNA1A C>T	19	13423523	13423523	C	T	CACNA1A	c.1628G>A	NM_001127222.2	NP_001120694.1:p.(Arg543Gln)	NC_000019.9:g.13423523C>T	VUS	1 lab	b2c259d832
1:45293985 PTCH2 C>T	1	45293985	45293985	C	T	PTCH2	c.1692G>A	NM_001166292.2	NP_001159764.1:p.(Val564=)	NC_000001.10:g.45293985C>T	(Likely) benign	1 lab	b2c8c092fb
12:103246598 PAH G>A	12	103246598	103246598	G	A	PAH	c.837C>T	NM_000277.3	NP_000268.1:p.(Pro279=)	NC_000012.11:g.103246598G>A	(Likely) benign	1 lab	b2d0c077e6
X:11783689 MSL3 C>T	X	11783689	11783689	C	T	MSL3	c.565C>T	NM_001282174.1	NP_001269103.1:p.(Arg189Cys)	NC_000023.10:g.11783689C>T	(Likely) benign	1 lab	b2d2194ad8
5:1219217 SLC6A19 T>C	5	1219217	1219217	T	C	SLC6A19	c.1373T>C	NM_001003841.3	NP_001003841.1:p.(Leu458Pro)	NC_000005.9:g.1219217T>C	VUS	1 lab	b2d8294d8a
2:203384909 BMPR2 G>T	2	203384909	203384909	G	T	BMPR2	c.952G>T	NM_001204.7	NP_001195.2:p.(Glu318Ter)	NC_000002.11:g.203384909G>T	(Likely) pathogenic	1 lab	b2ddb84294
16:66788947 TERB1 G>A	16	66788947	66788947	G	A	TERB1	c.2116C>T	NM_001136505.2	NP_001129977.1:p.(Arg706Trp)	NC_000016.9:g.66788947G>A	VUS	1 lab	b2de647999
7:92733407 SAMD9 G>C	7	92733407	92733407	G	C	SAMD9	c.2004C>G	NM_017654.4	NP_060124.2:p.(Asp668Glu)	NC_000007.13:g.92733407G>C	VUS	1 lab	b2e01e9dba
7:42188023 GLI3 C>T	7	42188023	42188023	C	T	GLI3	c.169G>A	NM_000168.6	NP_000159.3:p.(Ala57Thr)	NC_000007.13:g.42188023C>T	VUS	1 lab	b2e043be05
9:140772650 CACNA1B A>G	9	140772650	140772650	A	G	CACNA1B	c.265A>G	NM_000718.4	NP_000709.1:p.(Lys89Glu)	NC_000009.11:g.140772650A>G	(Likely) benign	1 lab	b2e0a8001b
5:55168153 IL31RA C>T	5	55168153	55168153	C	T	IL31RA	c.271C>T	NM_001242638.2	NP_001229567.1:p.(Arg91Cys)	NC_000005.9:g.55168153C>T	(Likely) benign	1 lab	b2e691db5d
15:89401615 ACAN T>G	15	89401615	89401615	T	G	ACAN	c.5799T>G	NM_013227.4	NP_037359.3:p.(Thr1933=)	NC_000015.9:g.89401615T>G	(Likely) benign	1 lab	b2e8b57049
19:42854496 MEGF8 C>T	19	42854496	42854496	C	T	MEGF8	c.2495C>T	NM_001410.3	NP_001401.2:p.(Pro832Leu)	NC_000019.9:g.42854496C>T	VUS	1 lab	b2e8bd670e
X:153629155 RPL10 A>G	X	153629155	153629155	A	G	RPL10	c.605=	NM_006013.5	NP_006004.3:p.(Ser202=)	NC_000023.10:g.153629155A>G	(Likely) benign	1 lab	b2ea6ed557
X:31645873 DMD C>T	X	31645873	31645873	C	T	DMD	c.8134G>A	NM_004006.3	NP_003997.2:p.(Ala2712Thr)	NC_000023.10:g.31645873C>T	VUS	1 lab	b2ed712914
12:52681868 KRT86 C>T	12	52681868	52681868	C	T	KRT86	c.-5+12138C>T	NM_001320198.2	NP_001307127.1:p.?	NC_000012.11:g.52681868C>T	(Likely) benign	1 lab	b2f08634b8
18:52921759 TCF4 C>G	18	52921759	52921759	C	G	TCF4	c.1319G>C	NM_001083962.2	NP_001077431.1:p.(Gly440Ala)	NC_000018.9:g.52921759C>G	VUS	1 lab	b2f09c9d20
2:84848342 DNAH6 C>T	2	84848342	84848342	C	T	DNAH6	c.3820C>T	NM_001370.2	NP_001361.1:p.(Arg1274Ter)	NC_000002.11:g.84848342C>T	VUS	1 lab	b2f2b3534f
2:179534945 TTN C>G	2	179534945	179534945	C	G	TTN	c.35386G>C	NM_001267550.2	NP_001254479.2:p.(Ala11796Pro)	NC_000002.11:g.179534945C>G	VUS	1 lab	b2fb030838
20:6075585 FERMT1 C>A	20	6075585	6075585	C	A	FERMT1	c.1139+1G>T	NM_017671.5	NP_060141.3:p.?	NC_000020.10:g.6075585C>A	(Likely) pathogenic	1 lab	b2fbee9e59
19:7764363 FCER2 GTTTT>G	19	7764363	7764378	GTTTT	G	FCER2				NC_000019.9:g.7764375_7764378del	(Likely) benign	1 lab	b2fcb3380e
3:141295907 RASA2 G>T	3	141295907	141295907	G	T	RASA2	c.1549G>T	NM_006506.5	NP_006497.2:p.(Val517Leu)	NC_000003.11:g.141295907G>T	(Likely) benign	1 lab	b30906a627
7:156802956 MNX1 A>G	7	156802956	156802956	A	G	MNX1	c.89T>C	NM_005515.4	NP_005506.3:p.(Leu30Ser)	NC_000007.13:g.156802956A>G	VUS	1 lab	b30b9512cf
1:235634255 B3GALNT2 ACGATTGTACCTTCAAAGCTCTTTTGTAGAAAGATGAATAGTGAGT>A	1	235634255	235634301	ACGATTGTACCTTCAAAGCTCTTTTGTAGAAAGATGAATAGTGAGT	A	B3GALNT2	c.652-26_670del	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235634257_235634301del	(Likely) pathogenic	1 lab	b30eab41bf
13:23904988 SACS C>T	13	23904988	23904988	C	T	SACS	c.13027G>A	NM_014363.6	NP_055178.3:p.(Glu4343Lys)	NC_000013.10:g.23904988C>T	VUS	1 lab	b30f0a0079
12:33003790 PKP2 T>C	12	33003790	33003790	T	C	PKP2	c.1288A>G	NM_004572.4	NP_004563.2:p.(Lys430Glu)	NC_000012.11:g.33003790T>C	VUS	1 lab	b3103a8060
6:32810015 PSMB8 G>A	6	32810015	32810015	G	A	PSMB8	c.433C>T	NM_148919.4	NP_683720.2:p.(Arg145Cys)	NC_000006.11:g.32810015G>A	VUS	1 lab	b311670b72
7:128486205 FLNC G>A	7	128486205	128486205	G	A	FLNC	c.3952G>A	NM_001458.5	NP_001449.3:p.(Ala1318Thr)	NC_000007.13:g.128486205G>A	VUS	1 lab	b314232730
22:38543453 PLA2G6 T>C	22	38543453	38543453	T	C	PLA2G6	c.210-1793A>G	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38543453T>C	(Likely) benign	1 lab	b31876f25c
3:189712091 P3H2 G>GA	3	189712091	189712097	G	GA	P3H2	c.634-20dup	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189712097dup	(Likely) benign	1 lab	b31cc47b87
9:134050955 NUP214 C>T	9	134050955	134050955	C	T	NUP214	c.3266C>T	NM_005085.4	NP_005076.3:p.(Pro1089Leu)	NC_000009.11:g.134050955C>T	VUS	1 lab	b327cb7ec9
20:40052186 CHD6 T>C	20	40052186	40052186	T	C	CHD6	c.4501A>G	NM_032221.5	NP_115597.3:p.(Ser1501Gly)	NC_000020.10:g.40052186T>C	VUS	1 lab	b330805975
8:19810932 LPL G>A	8	19810932	19810932	G	A	LPL	c.541G>A	NM_000237.3	NP_000228.1:p.(Gly181Ser)	NC_000008.10:g.19810932G>A	VUS	1 lab	b3315ca57b
1:12557597 VPS13D C>T	1	12557597	12557597	C	T	VPS13D	c.12706C>T	NM_015378.4	NP_056193.2:p.(Pro4236Ser)	NC_000001.10:g.12557597C>T	VUS	1 lab	b3349eb1e1
10:21102890 NEBL TC>T	10	21102890	21102891	TC	T	NEBL	c.2323del	NM_006393.3	NP_006384.1:p.(Glu775LysfsTer9)	NC_000010.10:g.21102891del	VUS	1 lab	b3367a81ff
2:25013426 PTRHD1 C>T	2	25013426	25013426	C	T	PTRHD1	c.277G>A	NM_001013663.2	NP_001013685.1:p.(Glu93Lys)	NC_000002.11:g.25013426C>T	VUS	1 lab	b33a5e321c
16:3790554 CREBBP G>A	16	3790554	3790554	G	A	CREBBP	c.3983-4C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3790554G>A	(Likely) benign	1 lab	b33b265420
20:62294226 RTEL1 C>A	20	62294226	62294226	C	A	RTEL1	c.594C>A	NM_032957.5	NP_116575.3:p.(Phe198Leu)	NC_000020.10:g.62294226C>A	VUS	1 lab	b33b87df58
16:2331430 ABCA3 A>G	16	2331430	2331430	A	G	ABCA3	c.4116T>C	NM_001089.3	NP_001080.2:p.(Ser1372=)	NC_000016.9:g.2331430A>G	(Likely) benign	1 lab	b33c409aef
11:18424487 LDHA A>G	11	18424487	18424487	A	G	LDHA	c.606A>G	NM_001165414.2	NP_001158886.1:p.(Leu202=)	NC_000011.9:g.18424487A>G	(Likely) benign	1 lab	b33cb8a819
16:89345759 ANKRD11 C>A	16	89345759	89345759	C	A	ANKRD11	c.7191G>T	NM_013275.6	NP_037407.4:p.(Gln2397His)	NC_000016.9:g.89345759C>A	VUS	1 lab	b33e600937
21:45655195 ICOSLG G>A	21	45655195	45655195	G	A	ICOSLG	c.657C>T	NM_015259.6	NP_056074.1:p.(Asn219=)	NC_000021.8:g.45655195G>A	(Likely) benign	1 lab	b341549e91
3:182788854 MCCC1 G>A	3	182788854	182788854	G	A	MCCC1	c.694C>T	NM_020166.5	NP_064551.3:p.(Arg232Trp)	NC_000003.11:g.182788854G>A	(Likely) pathogenic	1 lab	b34481cae4
5:126732353 MEGF10 G>A	5	126732353	126732353	G	A	MEGF10	c.542G>A	NM_032446.3	NP_115822.1:p.(Arg181His)	NC_000005.9:g.126732353G>A	VUS	1 lab	b347f7c925
8:120795607 TAF2 G>A	8	120795607	120795607	G	A	TAF2	c.2112+14C>T	NM_003184.4	NP_003175.2:p.?	NC_000008.10:g.120795607G>A	(Likely) benign	1 lab	b34b16bc64
1:36563158 COL8A2 C>A	1	36563158	36563158	C	A	COL8A2	c.*12G>T	NM_005202.4	NP_005193.1:p.?	NC_000001.10:g.36563158C>A	(Likely) benign	1 lab	b34b1e037f
2:179443839 TTN C>T	2	179443839	179443839	C	T	TTN	c.67918G>A	NM_001267550.2	NP_001254479.2:p.(Val22640Ile)	NC_000002.11:g.179443839C>T	VUS	1 lab	b34c46ede3
10:81371729 SFTPA1 C>G	10	81371729	81371729	C	G	SFTPA1	c.148C>G	NM_005411.5	NP_005402.3:p.(Leu50Val)	NC_000010.10:g.81371729C>G	(Likely) benign	1 lab	b35bb8946e
11:130064039 ST14 C>T	11	130064039	130064039	C	T	ST14	c.876-5C>T	NM_021978.4	NP_068813.1:p.?	NC_000011.9:g.130064039C>T	(Likely) benign	1 lab	b35e07b4a5
X:22129584 PHEX G>A	X	22129584	22129584	G	A	PHEX	c.1080-1G>A	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22129584G>A	(Likely) pathogenic	1 lab	b36022a277
4:3240526 HTT A>G	4	3240526	3240526	A	G	HTT	c.9061-19A>G	NM_002111.8	NP_002102.4:p.?	NC_000004.11:g.3240526A>G	(Likely) benign	1 lab	b365b3d7f0
10:114903733 TCF7L2 C>A	10	114903733	114903733	C	A	TCF7L2	c.668C>A	NM_030756.5	NP_110383.2:p.(Ser223Ter)	NC_000010.10:g.114903733C>A	VUS	1 lab	b365ba0244
13:48937094 RB1 G>A	13	48937094	48937094	G	A	RB1	c.861+1G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48937094G>A	(Likely) pathogenic	1 lab	b38be8027e
7:69064914 AUTS2 C>G	7	69064914	69064914	C	G	AUTS2	c.275C>G	NM_015570.4	NP_056385.1:p.(Ala92Gly)	NC_000007.13:g.69064914C>G	VUS	1 lab	b368471c2e
3:164735465 SI T>TA	3	164735465	164735473	T	TA	SI	c.3634-5dup	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164735473dup	(Likely) benign	1 lab	b36aeedb5b
2:8925975 KIDINS220 G>A	2	8925975	8925975	G	A	KIDINS220	c.2125C>T	NM_020738.4	NP_065789.1:p.(Arg709Cys)	NC_000002.11:g.8925975G>A	VUS	1 lab	b36b479c5c
16:56947214 SLC12A3 C>T	16	56947214	56947214	C	T	SLC12A3	c.2990C>T	NM_000339.3	NP_000330.3:p.(Ser997Leu)	NC_000016.9:g.56947214C>T	VUS	1 lab	b36d552038
11:64359286 SLC22A12 C>T	11	64359286	64359286	C	T	SLC22A12	c.258C>T	NM_144585.4	NP_653186.2:p.(His86=)	NC_000011.9:g.64359286C>T	(Likely) benign	1 lab	b3719c21f1
2:162280028 TBR1 C>CCGGGCG	2	162280028	162280045	C	CCGGGCG	TBR1	c.1351_1356dup	NM_006593.4	NP_006584.1:p.(Ala451_Gly452dup)	NC_000002.11:g.162280040_162280045dup	VUS	1 lab	b37abcad97
3:189712090 P3H2 G>A	3	189712090	189712090	G	A	P3H2	c.634-18C>T	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189712090G>A	(Likely) benign	1 lab	b37b47aefb
17:17699358 RAI1 G>GC	17	17699358	17699365	G	GC	RAI1	c.3103dup	NM_030665.4	NP_109590.3:p.(Gln1035ProfsTer31)	NC_000017.10:g.17699365dup	(Likely) pathogenic	1 lab	b383d54d3c
16:3820946 CREBBP C>A	16	3820946	3820946	C	A	CREBBP	c.2505G>T	NM_004380.3	NP_004371.2:p.(Met835Ile)	NC_000016.9:g.3820946C>A	VUS	1 lab	b3897296c3
10:76735658 KAT6B T>G	10	76735658	76735658	T	G	KAT6B	c.1563T>G	NM_012330.4	NP_036462.2:p.(Ser521Arg)	NC_000010.10:g.76735658T>G	VUS	1 lab	b38acb8cc8
10:112572178 RBM20 T>A	10	112572178	112572178	T	A	RBM20	c.2023T>A	NM_001134363.3	NP_001127835.2:p.(Ser675Thr)	NC_000010.10:g.112572178T>A	VUS	1 lab	b38c7c5fe8
2:179408063 TTN C>T	2	179408063	179408063	C	T	TTN	c.96637G>A	NM_001267550.2	NP_001254479.2:p.(Asp32213Asn)	NC_000002.11:g.179408063C>T	VUS	1 lab	b38cc3b000
5:52351413 ITGA2 G>A	5	52351413	52351413	G	A	ITGA2	c.825G>A	NM_002203.4	NP_002194.2:p.(Thr275=)	NC_000005.9:g.52351413G>A	(Likely) benign	1 lab	b38f71457d
6:117997216 NUS1 G>A	6	117997216	117997216	G	A	NUS1	c.383G>A	NM_138459.5	NP_612468.1:p.(Gly128Asp)	NC_000006.11:g.117997216G>A	VUS	1 lab	b38fcdd506
19:1388877 NDUFS7 C>T	19	1388877	1388877	C	T	NDUFS7	c.168C>T	NM_024407.5	NP_077718.3:p.(Pro56=)	NC_000019.9:g.1388877C>T	(Likely) benign	1 lab	b394aaf34b
18:12725526 PSMG2 T>C	18	12725526	12725526	T	C	PSMG2	c.791T>C	NM_020232.5	NP_064617.2:p.(Phe264Ser)	NC_000018.9:g.12725526T>C	VUS	1 lab	b3a443b6ec
3:9476133 SETD5 C>G	3	9476133	9476133	C	G	SETD5	c.293C>G	NM_001080517.3	NP_001073986.1:p.(Ser98Cys)	NC_000003.11:g.9476133C>G	VUS	1 lab	b3aa412914
2:74274173 TET3 A>AC	2	74274173	74274179	A	AC	TET3	c.1135dup	NM_001287491.2	NP_001274420.1:p.(Gln379ProfsTer8)	NC_000002.11:g.74274179dup	(Likely) pathogenic	1 lab	b3afc18fab
3:48508055 TREX1 A>G	3	48508055	48508055	A	G	TREX1	c.1A>G	NM_033629.6	NP_338599.1:p.(Met1?)	NC_000003.11:g.48508055A>G	VUS	1 lab	b3b4c69339
8:133186486 KCNQ3 C>T	8	133186486	133186486	C	T	KCNQ3	c.1044G>A	NM_004519.4	NP_004510.1:p.(Ala348=)	NC_000008.10:g.133186486C>T	VUS	1 lab	b3b527941f
9:133710740 ABL1 G>GC	9	133710740	133710742	G	GC	ABL1	c.137-18709dup	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133710742dup	(Likely) benign	1 lab	b3b6c52390
10:135369309 SYCE1 G>A	10	135369309	135369309	G	A	SYCE1	c.586C>T	NM_130784.4	NP_570140.1:p.(Arg196Cys)	NC_000010.10:g.135369309G>A	VUS	1 lab	b3bab6dad7
17:41244217 BRCA1 GC>G	17	41244217	41244218	GC	G	BRCA1	c.3330del	NM_007294.4	NP_009225.1:p.(Lys1110AsnfsTer7)	NC_000017.10:g.41244218del	(Likely) pathogenic	1 lab	b3c3561dba
9:124086837 GSN G>T	9	124086837	124086837	G	T	GSN	c.1484G>T	NM_000177.5	NP_000168.1:p.(Gly495Val)	NC_000009.11:g.124086837G>T	VUS	1 lab	b3c6f1c94f
X:153221775 HCFC1 G>A	X	153221775	153221775	G	A	HCFC1	c.2723C>T	NM_005334.3	NP_005325.2:p.(Thr908Met)	NC_000023.10:g.153221775G>A	VUS	1 lab	b3c705d009
12:7053014 RNU7-1 C>T	12	7053014	7053014	C	T	RNU7-1	n.36C>T	NR_023317.1		NC_000012.11:g.7053014C>T	(Likely) benign	1 lab	b3c788097a
7:155596016 SHH C>A	7	155596016	155596016	C	A	SHH	c.967G>T	NM_000193.4	NP_000184.1:p.(Gly323Trp)	NC_000007.13:g.155596016C>A	VUS	1 lab	b3c7eb700b
21:34927546 SON TG>T	21	34927546	34927547	TG	T	SON	c.6010del	NM_138927.4	NP_620305.3:p.(Val2004TrpfsTer2)	NC_000021.8:g.34927547del	(Likely) pathogenic	1 lab	b3c949543d
5:37059003 NIPBL A>C	5	37059003	37059003	A	C	NIPBL	c.7421A>C	NM_133433.4	NP_597677.2:p.(Lys2474Thr)	NC_000005.9:g.37059003A>C	VUS	1 lab	b3cc64bfe5
X:19373494 PDHA1 G>A	X	19373494	19373494	G	A	PDHA1	c.631G>A	NM_000284.4	NP_000275.1:p.(Ala211Thr)	NC_000023.10:g.19373494G>A	VUS	1 lab	b3cd6195a4
17:63533035 AXIN2 C>G	17	63533035	63533035	C	G	AXIN2	c.1859G>C	NM_004655.4	NP_004646.3:p.(Trp620Ser)	NC_000017.10:g.63533035C>G	VUS	1 lab	b3d0e9024b
17:3553526 CTNS A>G	17	3553526	3553526	A	G	CTNS	c.225+1301A>G	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3553526A>G	(Likely) benign	1 lab	b3d4198958
14:105858997 PACS2 A>G	14	105858997	105858997	A	G	PACS2	c.2297A>G	NM_001100913.3	NP_001094383.2:p.(Tyr766Cys)	NC_000014.8:g.105858997A>G	VUS	1 lab	b3dd91e5cd
19:13135887 NFIX C>T	19	13135887	13135887	C	T	NFIX	c.104C>T	NM_001271043.2	NP_001257972.1:p.(Ser35Phe)	NC_000019.9:g.13135887C>T	VUS	1 lab	b3ddfefa37
10:105823571 COL17A1 C>T	10	105823571	105823571	C	T	COL17A1	c.772G>A	NM_000494.4	NP_000485.3:p.(Gly258Arg)	NC_000010.10:g.105823571C>T	VUS	1 lab	b3dedc97d8
3:14180762 TMEM43 GCCTCAA>G	3	14180762	14180771	GCCTCAA	G	TMEM43	c.969_974del	NM_024334.3	NP_077310.1:p.(Asn324_Leu325del)	NC_000003.11:g.14180766_14180771del	VUS	1 lab	b3df0f62ec
18:57000303 LMAN1 G>A	18	57000303	57000303	G	A	LMAN1	c.1374+20C>T	NM_005570.4	NP_005561.1:p.?	NC_000018.9:g.57000303G>A	(Likely) benign	1 lab	b3e09d17d9
9:124072969 GSN G>T	9	124072969	124072969	G	T	GSN	c.512G>T	NM_000177.5	NP_000168.1:p.(Gly171Val)	NC_000009.11:g.124072969G>T	VUS	1 lab	b3e16638a6
X:153296765 MECP2 G>C	X	153296765	153296765	G	C	MECP2	c.514C>G	NM_004992.4	NP_004983.1:p.(Pro172Ala)	NC_000023.10:g.153296765G>C	VUS	1 lab	b3e5fa3280
10:97402802 ALDH18A1 G>A	10	97402802	97402802	G	A	ALDH18A1	c.250C>T	NM_002860.4	NP_002851.2:p.(Arg84Ter)	NC_000010.10:g.97402802G>A	(Likely) pathogenic	1 lab	b3e68fdf8e
X:48117989 SSX1 C>T	X	48117989	48117989	C	T	SSX1	c.203C>T	NM_005635.4	NP_005626.1:p.(Pro68Leu)	NC_000023.10:g.48117989C>T	VUS	1 lab	b3ee5fed69
16:58612662 CNOT1 T>C	16	58612662	58612662	T	C	CNOT1	c.1525A>G	NM_001265612.2	NP_001252541.1:p.(Ile509Val)	NC_000016.9:g.58612662T>C	VUS	1 lab	b40034263c
7:44575449 NPC1L1 C>T	7	44575449	44575449	C	T	NPC1L1	c.1973G>A	NM_013389.3	NP_037521.2:p.(Ser658Asn)	NC_000007.13:g.44575449C>T	VUS	1 lab	b4007d161f
19:10262064 DNMT1 C>CAA	19	10262064	10262066	C	CAA	DNMT1	c.2265+8_2265+9dup	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10262065_10262066dup	(Likely) benign	1 lab	b400ba0fbf
8:145113523 OPLAH G>A	8	145113523	145113523	G	A	OPLAH	c.659C>T	NM_017570.5	NP_060040.1:p.(Ser220Leu)	NC_000008.10:g.145113523G>A	(Likely) pathogenic	1 lab	b406a03416
17:4923376 KIF1C TAGA>T	17	4923376	4923382	TAGA	T	KIF1C	c.1750+6_1750+8del	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4923380_4923382del	(Likely) benign	1 lab	b40a4577ba
14:77493187 IRF2BPL A>AGGTCGC	14	77493187	77493193	A	AGGTCGC	IRF2BPL	c.948_949insGCGACC	NM_024496.4	NP_078772.1:p.(Thr316_Ser317insAlaThr)	NC_000014.8:g.77493192_77493193insCGGTCG	VUS	1 lab	b40b00757a
2:152424933 NEB T>TAA	2	152424933	152424946	T	TAA	NEB	c.17635-4_17635-3dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152424945_152424946dup	(Likely) benign	1 lab	dce019fab4
6:31084787 CDSN A>G	6	31084787	31084787	A	G	CDSN	c.605T>C	NM_001264.5	NP_001255.4:p.(Phe202Ser)	NC_000006.11:g.31084787A>G	(Likely) benign	1 lab	b40f6fc274
1:39893267 MACF1 A>G	1	39893267	39893267	A	G	MACF1	c.10271A>G	NM_012090.5	NP_036222.3:p.(Gln3424Arg)	NC_000001.10:g.39893267A>G	VUS	1 lab	b411096472
22:29090099 CHEK2 T>C	22	29090099	29090099	T	C	CHEK2	c.1382A>G	NM_007194.4	NP_009125.1:p.(Asp461Gly)	NC_000022.10:g.29090099T>C	VUS	1 lab	b4189a8ca1
9:137021623 WDR5 C>T	9	137021623	137021623	C	T	WDR5	c.817-5C>T	NM_052821.4	NP_438172.1:p.?	NC_000009.11:g.137021623C>T	(Likely) benign	1 lab	b418dc87ce
19:13370520 CACNA1A C>T	19	13370520	13370520	C	T	CACNA1A	c.4251-5G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13370520C>T	VUS	1 lab	b41b4bbc23
9:141015209 CACNA1B C>T	9	141015209	141015209	C	T	CACNA1B	c.6365C>T	NM_000718.4	NP_000709.1:p.(Ser2122Leu)	NC_000009.11:g.141015209C>T	VUS	1 lab	b41d9c6bf3
11:108175445 ATM A>G	11	108175445	108175445	A	G	ATM	c.5540A>G	NM_000051.4	NP_000042.3:p.(His1847Arg)	NC_000011.9:g.108175445A>G	VUS	1 lab	b41e9ff583
5:176831388 F12 C>T	5	176831388	176831388	C	T	F12	c.827G>A	NM_000505.4	NP_000496.2:p.(Trp276Ter)	NC_000005.9:g.176831388C>T	(Likely) pathogenic	1 lab	b4213fc55b
2:166850725 SCN1A G>T	2	166850725	166850725	G	T	SCN1A	c.4783C>A	NM_001165963.4	NP_001159435.1:p.(Leu1595Ile)	NC_000002.11:g.166850725G>T	VUS	1 lab	b421ef1eb4
12:52188213 SCN8A T>C	12	52188213	52188213	T	C	SCN8A	c.4583T>C	NM_014191.4	NP_055006.1:p.(Ile1528Thr)	NC_000012.11:g.52188213T>C	VUS	1 lab	b42478abba
20:25295602 ABHD12 A>T	20	25295602	25295602	A	T	ABHD12	c.578T>A	NM_001042472.3	NP_001035937.1:p.(Leu193Gln)	NC_000020.10:g.25295602A>T	VUS	1 lab	b42ba471dc
2:169828508 ABCB11 T>A	2	169828508	169828508	T	A	ABCB11	c.1487A>T	NM_003742.4	NP_003733.2:p.(Asp496Val)	NC_000002.11:g.169828508T>A	(Likely) pathogenic	1 lab	b42c0072ed
21:34721474 IFNAR1 C>T	21	34721474	34721474	C	T	IFNAR1	c.866C>T	NM_000629.3	NP_000620.2:p.(Thr289Ile)	NC_000021.8:g.34721474C>T	VUS	1 lab	b43280a851
8:68204278 ARFGEF1 C>A	8	68204278	68204278	C	A	ARFGEF1	c.720G>T	NM_006421.5	NP_006412.2:p.(Glu240Asp)	NC_000008.10:g.68204278C>A	VUS	1 lab	b43627d39e
11:111779627 CRYAB G>C	11	111779627	111779627	G	C	CRYAB	c.389C>G	NM_001885.3	NP_001876.1:p.(Pro130Arg)	NC_000011.9:g.111779627G>C	VUS	1 lab	b4384fc6e4
X:79988980 BRWD3 C>G	X	79988980	79988980	C	G	BRWD3	c.1102G>C	NM_153252.5	NP_694984.5:p.(Val368Leu)	NC_000023.10:g.79988980C>G	VUS	1 lab	b439c28b9e
3:124951604 ZNF148 T>C	3	124951604	124951604	T	C	ZNF148	c.1966A>G	NM_021964.3	NP_068799.2:p.(Ile656Val)	NC_000003.11:g.124951604T>C	VUS	1 lab	b43f8127f7
X:49070298 CACNA1F A>G	X	49070298	49070298	A	G	CACNA1F	c.3806T>C	NM_005183.4	NP_005174.2:p.(Ile1269Thr)	NC_000023.10:g.49070298A>G	VUS	1 lab	b443581312
3:48604151 COL7A1 C>A	3	48604151	48604151	C	A	COL7A1	c.8246G>T	NM_000094.4	NP_000085.1:p.(Gly2749Val)	NC_000003.11:g.48604151C>A	(Likely) pathogenic	1 lab	b443e240f3
22:38519194 PLA2G6 A>G	22	38519194	38519194	A	G	PLA2G6	c.1499T>C	NM_003560.4	NP_003551.2:p.(Ile500Thr)	NC_000022.10:g.38519194A>G	(Likely) pathogenic	1 lab	b448851dda
10:79397214 KCNMA1 C>A	10	79397214	79397214	C	A	KCNMA1	c.187G>T	NM_001322830.2	NP_001309759.1:p.(Glu63Ter)	NC_000010.10:g.79397214C>A	VUS	1 lab	b44f8a0624
10:80968205 ZMIZ1 C>T	10	80968205	80968205	C	T	ZMIZ1	c.173C>T	NM_020338.4	NP_065071.1:p.(Thr58Met)	NC_000010.10:g.80968205C>T	(Likely) benign	1 lab	b453ba04f3
X:153296743 MECP2 G>C	X	153296743	153296743	G	C	MECP2	c.536C>G	NM_004992.4	NP_004983.1:p.(Pro179Arg)	NC_000023.10:g.153296743G>C	VUS	1 lab	b45ab31a09
6:138413301 PERP C>T	6	138413301	138413301	C	T	PERP	c.460G>A	NM_022121.5	NP_071404.2:p.(Gly154Ser)	NC_000006.11:g.138413301C>T	VUS	1 lab	b46012a2f5
3:142281381 ATR A>G	3	142281381	142281381	A	G	ATR	c.863T>C	NM_001184.4	NP_001175.2:p.(Leu288Ser)	NC_000003.11:g.142281381A>G	VUS	1 lab	b461c8967c
19:18707819 CRLF1 G>A	19	18707819	18707819	G	A	CRLF1	c.738C>T	NM_004750.5	NP_004741.1:p.(Val246=)	NC_000019.9:g.18707819G>A	(Likely) benign	1 lab	b46f5e5804
9:120475487 TLR4 A>G	9	120475487	120475487	A	G	TLR4	c.1081A>G	NM_138554.5	NP_612564.1:p.(Asn361Asp)	NC_000009.11:g.120475487A>G	VUS	1 lab	b478735d1c
7:21920494 DNAH11 T>G	7	21920494	21920494	T	G	DNAH11	c.12370T>G	NM_001277115.2	NP_001264044.1:p.(Leu4124Val)	NC_000007.13:g.21920494T>G	VUS	1 lab	b47acbfa5f
12:14794062 GUCY2C G>A	12	14794062	14794062	G	A	GUCY2C	c.2022C>T	NM_004963.4	NP_004954.2:p.(Ile674=)	NC_000012.11:g.14794062G>A	(Likely) benign	1 lab	b4832dc776
6:117996860 NUS1 G>A	6	117996860	117996860	G	A	NUS1	c.27G>A	NM_138459.5	NP_612468.1:p.(Trp9Ter)	NC_000006.11:g.117996860G>A	(Likely) pathogenic	1 lab	b489a66cbd
17:48270098 COL1A1 G>A	17	48270098	48270098	G	A	COL1A1	c.1876-44C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270098G>A	(Likely) benign	1 lab	b48bb06133
19:55665513 TNNI3 C>T	19	55665513	55665513	C	T	TNNI3	c.434G>A	NM_000363.5	NP_000354.4:p.(Arg145Gln)	NC_000019.9:g.55665513C>T	(Likely) pathogenic	1 lab	b48c7d838a
X:32398692 DMD A>T	X	32398692	32398692	A	T	DMD	c.4780T>A	NM_004006.3	NP_003997.2:p.(Leu1594Met)	NC_000023.10:g.32398692A>T	VUS	1 lab	b49b92fc6d
21:43187095 RIPK4 A>G	21	43187095	43187095	A	G	RIPK4	c.107T>C	NM_020639.3	NP_065690.2:p.(Val36Ala)	NC_000021.8:g.43187095A>G	VUS	1 lab	b49f25edec
9:27205061 TEK G>T	9	27205061	27205061	G	T	TEK	c.2362G>T	NM_000459.5	NP_000450.3:p.(Val788Leu)	NC_000009.11:g.27205061G>T	VUS	1 lab	b4a44556c4
4:123175471 BLTP1 A>G	4	123175471	123175471	A	G	BLTP1	c.6044A>G	NM_015312.4	NP_056127.2:p.(Asn2015Ser)	NC_000004.11:g.123175471A>G	VUS	1 lab	b4aa9b6882
9:140712522 EHMT1 G>A	9	140712522	140712522	G	A	EHMT1	c.3472G>A	NM_024757.5	NP_079033.4:p.(Glu1158Lys)	NC_000009.11:g.140712522G>A	VUS	1 lab	b4aee4efab
X:153006072 ABCD1 CG>C	X	153006072	153006074	CG	C	ABCD1	c.1681del	NM_000033.4	NP_000024.2:p.(Asp561ThrfsTer75)	NC_000023.10:g.153006074del	(Likely) pathogenic	1 lab	b4b7f52f6b
17:61784653 STRADA T>C	17	61784653	61784653	T	C	STRADA	c.707A>G	NM_001003787.4	NP_001003787.1:p.(Tyr236Cys)	NC_000017.10:g.61784653T>C	VUS	1 lab	b4bc04de9a
16:30740770 SRCAP C>T	16	30740770	30740770	C	T	SRCAP	c.6004C>T	NM_006662.3	NP_006653.2:p.(Arg2002Cys)	NC_000016.9:g.30740770C>T	VUS	1 lab	b4c127bdaf
1:226829706 ITPKB C>T	1	226829706	226829706	C	T	ITPKB	c.2367G>A	NM_002221.4	NP_002212.3:p.(Arg789=)	NC_000001.10:g.226829706C>T	(Likely) benign	1 lab	b4d1c00abc
19:13247078 NACC1 G>C	19	13247078	13247078	G	C	NACC1	c.979G>C	NM_052876.4	NP_443108.1:p.(Ala327Pro)	NC_000019.9:g.13247078G>C	VUS	1 lab	b4d8959cd3
X:99662746 PCDH19 G>A	X	99662746	99662746	G	A	PCDH19	c.850C>T	NM_001184880.2	NP_001171809.1:p.(Arg284Cys)	NC_000023.10:g.99662746G>A	VUS	1 lab	b4da423a40
13:101756768 NALCN A>T	13	101756768	101756768	A	T	NALCN	c.2767T>A	NM_052867.4	NP_443099.1:p.(Tyr923Asn)	NC_000013.10:g.101756768A>T	VUS	1 lab	b4e1f4ec48
1:209823425 LAMB3 G>A	1	209823425	209823425	G	A	LAMB3	c.67C>T	NM_001017402.2	NP_001017402.1:p.(Arg23Cys)	NC_000001.10:g.209823425G>A	VUS	1 lab	b4e49285aa
5:11781506 CTNND2 11908684>DUP	5	11781506	11908684	11908684	DUP	CTNND2				NC_000005.9:g.11781506_11908684dup	VUS	1 lab	b4e7762249
10:55782732 PCDH15 T>C	10	55782732	55782732	T	C	PCDH15	c.2446A>G	NM_001354429.2	NP_001341358.1:p.(Ser816Gly)	NC_000010.10:g.55782732T>C	VUS	1 lab	b4ed2a58c9
22:41573444 EP300 C>T	22	41573444	41573444	C	T	EP300	c.5729C>T	NM_001429.4	NP_001420.2:p.(Pro1910Leu)	NC_000022.10:g.41573444C>T	VUS	1 lab	b4f3bf7bef
7:35293218 TBX20 G>A	7	35293218	35293218	G	A	TBX20	c.14C>T	NM_001077653.2	NP_001071121.1:p.(Ala5Val)	NC_000007.13:g.35293218G>A	VUS	1 lab	b5026c796f
2:169783792 ABCB11 CA>C	2	169783792	169783793	CA	C	ABCB11	c.3491del	NM_003742.4	NP_003733.2:p.(Val1164GlyfsTer7)	NC_000002.11:g.169783793del	(Likely) pathogenic	1 lab	b5098fa45a
11:22291914 ANO5 A>G	11	22291914	22291914	A	G	ANO5	c.1955A>G	NM_213599.3	NP_998764.1:p.(Tyr652Cys)	NC_000011.9:g.22291914A>G	VUS	1 lab	b5149322b8
2:152382454 NEB C>G	2	152382454	152382454	C	G	NEB	c.22266+18G>C	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152382454C>G	(Likely) benign	1 lab	b516bcb353
2:179395761 TTN G>A	2	179395761	179395761	G	A	TTN	c.105581C>T	NM_001267550.2	NP_001254479.2:p.(Ser35194Phe)	NC_000002.11:g.179395761G>A	(Likely) benign	1 lab	b51c276dd8
1:62994944 DOCK7 G>C	1	62994944	62994944	G	C	DOCK7	c.3781+4C>G	NM_001271999.2	NP_001258928.1:p.?	NC_000001.10:g.62994944G>C	(Likely) benign	1 lab	b51da1f5a6
7:299850 FAM20C G>T	7	299850	299850	G	T	FAM20C	c.1659G>T	NM_020223.4	NP_064608.2:p.(Val553=)	NC_000007.13:g.299850G>T	(Likely) benign	1 lab	b523272e63
12:122018732 KDM2B CTG>C	12	122018732	122018735	CTG	C	KDM2B	c.83_84del	NM_032590.5	NP_115979.3:p.(Thr28SerfsTer8)	NC_000012.11:g.122018734_122018735del	(Likely) benign	1 lab	b52341a52c
22:29083964 CHEK2 CTAG>C	22	29083964	29083970	CTAG	C	CHEK2	c.1550_1552del	NM_007194.4	NP_009125.1:p.(Thr517del)	NC_000022.10:g.29083968_29083970del	VUS	1 lab	b524085013
22:29107956 CHEK2 T>A	22	29107956	29107956	T	A	CHEK2	c.733A>T	NM_007194.4	NP_009125.1:p.(Lys245Ter)	NC_000022.10:g.29107956T>A	(Likely) pathogenic	1 lab	b524a96eff
10:10961925 CELF2 A>G	10	10961925	10961925	A	G	CELF2	c.-55-2A>G	NM_001326317.2	NP_001313246.1:p.?	NC_000010.10:g.10961925A>G	(Likely) benign	1 lab	b524de028c
10:105793024 COL17A1 C>CAA	10	105793024	105793026	C	CAA	COL17A1	c.4265_4266insTT	NM_000494.4	NP_000485.3:p.(Thr1423Ter)	NC_000010.10:g.105793025_105793026insAA	(Likely) pathogenic	1 lab	b52850c56b
6:33408600 SYNGAP1 G>A	6	33408600	33408600	G	A	SYNGAP1	c.1771G>A	NM_006772.3	NP_006763.2:p.(Ala591Thr)	NC_000006.11:g.33408600G>A	VUS	1 lab	b52868c469
1:100327026 AGL C>T	1	100327026	100327026	C	T	AGL	c.83-33C>T	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100327026C>T	(Likely) benign	1 lab	b52908bf92
7:91711791 AKAP9 A>G	7	91711791	91711791	A	G	AKAP9	c.8020-45A>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91711791A>G	(Likely) benign	1 lab	b52a1905b2
10:64974656 JMJD1C TCTC>T	10	64974656	64974661	TCTC	T	JMJD1C	c.1268_1270del	NM_032776.3	NP_116165.1:p.(Gly423del)	NC_000010.10:g.64974659_64974661del	VUS	1 lab	b52b47b09a
2:216190862 ATIC G>A	2	216190862	216190862	G	A	ATIC	c.531+1G>A	NM_004044.7	NP_004035.2:p.?	NC_000002.11:g.216190862G>A	(Likely) pathogenic	1 lab	b52b863a78
11:64577440 MEN1 GA>G	11	64577440	64577444	GA	G	MEN1	c.141del	NM_000244.3	NP_000235.2:p.(Leu48TrpfsTer71)	NC_000011.9:g.64577444del	(Likely) pathogenic	1 lab	b5302ee5cb
7:117234976 CFTR T>C	7	117234976	117234976	T	C	CFTR	c.2491-8T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117234976T>C	(Likely) benign	1 lab	b53a1012cf
13:48955415 RB1 G>GA	13	48955415	48955416	G	GA	RB1	c.1532dup	NM_000321.3	NP_000312.2:p.(Asp511GlufsTer12)	NC_000013.10:g.48955416dup	(Likely) pathogenic	1 lab	b54013fc9a
4:3176688 HTT C>T	4	3176688	3176688	C	T	HTT	c.4267C>T	NM_002111.8	NP_002102.4:p.(His1423Tyr)	NC_000004.11:g.3176688C>T	VUS	1 lab	b54333d530
10:28878682 WAC TGACTG>T	10	28878682	28878688	TGACTG	T	WAC	c.401_405del	NM_016628.5	NP_057712.2:p.(Asp134ValfsTer2)	NC_000010.10:g.28878684_28878688del	(Likely) pathogenic	1 lab	b5442fdbb9
X:76937626 ATRX T>A	X	76937626	76937626	T	A	ATRX	c.3122A>T	NM_000489.6	NP_000480.3:p.(Asp1041Val)	NC_000023.10:g.76937626T>A	VUS	1 lab	b5495a2e1d
X:53965676 PHF8 T>C	X	53965676	53965676	T	C	PHF8	c.2990A>G	NM_015107.3	NP_055922.1:p.(Lys997Arg)	NC_000023.10:g.53965676T>C	VUS	1 lab	b549f0d22c
12:116457705 MED13L C>T	12	116457705	116457705	C	T	MED13L	c.698G>A	NM_015335.5	NP_056150.1:p.(Arg233His)	NC_000012.11:g.116457705C>T	VUS	1 lab	b54ad38652
12:48380120 COL2A1 C>G	12	48380120	48380120	C	G	COL2A1	c.1526G>C	NM_001844.5	NP_001835.3:p.(Arg509Thr)	NC_000012.11:g.48380120C>G	VUS	1 lab	b54b5a5940
3:48608332 COL7A1 G>A	3	48608332	48608332	G	A	COL7A1	c.7234C>T	NM_000094.4	NP_000085.1:p.(Arg2412Ter)	NC_000003.11:g.48608332G>A	(Likely) pathogenic	1 lab	b54d32a655
13:49033965 RB1 A>T	13	49033965	49033965	A	T	RB1	c.2102A>T	NM_000321.3	NP_000312.2:p.(Asp701Val)	NC_000013.10:g.49033965A>T	(Likely) pathogenic	1 lab	b54ff2606e
14:91739477 CCDC88C C>T	14	91739477	91739477	C	T	CCDC88C	c.5579G>A	NM_001080414.4	NP_001073883.2:p.(Arg1860Gln)	NC_000014.8:g.91739477C>T	VUS	1 lab	b5548436ed
10:88677032 BMPR1A C>T	10	88677032	88677032	C	T	BMPR1A	c.817C>T	NM_004329.3	NP_004320.2:p.(Arg273Ter)	NC_000010.10:g.88677032C>T	(Likely) pathogenic	1 lab	b555ecace8
18:29175103 TTR A>T	18	29175103	29175103	A	T	TTR	c.221A>T	NM_000371.4	NP_000362.1:p.(Glu74Val)	NC_000018.9:g.29175103A>T	(Likely) pathogenic	1 lab	b558274185
3:78719400 ROBO1 G>A	3	78719400	78719400	G	A	ROBO1	c.1394C>T	NM_002941.4	NP_002932.1:p.(Thr465Ile)	NC_000003.11:g.78719400G>A	VUS	1 lab	b55d866e27
3:52439898 BAP1 G>A	3	52439898	52439898	G	A	BAP1	c.814C>T	NM_004656.4	NP_004647.1:p.(Gln272Ter)	NC_000003.11:g.52439898G>A	(Likely) pathogenic	1 lab	b560da59e8
7:55273131 EGFR G>C	7	55273131	55273131	G	C	EGFR	c.3454G>C	NM_005228.5	NP_005219.2:p.(Asp1152His)	NC_000007.13:g.55273131G>C	VUS	1 lab	b560e6511d
19:36587969 WDR62 G>A	19	36587969	36587969	G	A	WDR62	c.2508G>A	NM_001083961.2	NP_001077430.1:p.(Trp836Ter)	NC_000019.9:g.36587969G>A	(Likely) pathogenic	1 lab	b561725e87
4:123164168 BLTP1 C>G	4	123164168	123164168	C	G	BLTP1	c.4687C>G	NM_015312.4	NP_056127.2:p.(Leu1563Val)	NC_000004.11:g.123164168C>G	VUS	1 lab	b564551192
6:160113703 SOD2 C>T	6	160113703	160113703	C	T	SOD2	c.216G>A	NM_000636.4	NP_000627.2:p.(Ala72=)	NC_000006.11:g.160113703C>T	(Likely) benign	1 lab	b5665018a4
9:138594154 KCNT1 C>T	9	138594154	138594154	C	T	KCNT1	c.50C>T	NM_020822.3	NP_065873.2:p.(Ala17Val)	NC_000009.11:g.138594154C>T	VUS	1 lab	b5675165ea
11:108380695 EXPH5 G>C	11	108380695	108380695	G	C	EXPH5	c.5539C>G	NM_015065.3	NP_055880.2:p.(Arg1847Gly)	NC_000011.9:g.108380695G>C	VUS	1 lab	b5720b5715
1:152281947 FLG C>T	1	152281947	152281947	C	T	FLG	c.5415G>A	NM_002016.2	NP_002007.1:p.(Ala1805=)	NC_000001.10:g.152281947C>T	(Likely) benign	1 lab	b57e347bee
1:237777429 RYR2 T>C	1	237777429	237777429	T	C	RYR2	c.5001T>C	NM_001035.3	NP_001026.2:p.(Leu1667=)	NC_000001.10:g.237777429T>C	(Likely) benign	1 lab	b57f0dbb59
2:179430543 TTN AAC>A	2	179430543	179430546	AAC	A	TTN	c.80314_80315del	NM_001267550.2	NP_001254479.2:p.(Val26772Ter)	NC_000002.11:g.179430545_179430546del	(Likely) pathogenic	1 lab	b580522b1b
3:15643270 BTD C>T	3	15643270	15643270	C	T	BTD	c.-148C>T	NM_001370658.1	NP_001357587.1:p.?	NC_000003.11:g.15643270C>T	VUS	1 lab	b584747603
17:61396347 TANC2 A>T	17	61396347	61396347	A	T	TANC2	c.1249A>T	NM_025185.4	NP_079461.2:p.(Thr417Ser)	NC_000017.10:g.61396347A>T	VUS	1 lab	b584f21d7b
3:41266061 CTNNB1 G>A	3	41266061	41266061	G	A	CTNNB1	c.58G>A	NM_001904.4	NP_001895.1:p.(Ala20Thr)	NC_000003.11:g.41266061G>A	VUS	1 lab	b5897f0e22
20:34783252 EPB41L1 C>T	20	34783252	34783252	C	T	EPB41L1	c.1451C>T	NM_001258329.1	NP_001245258.1:p.(Pro484Leu)	NC_000020.10:g.34783252C>T	(Likely) benign	1 lab	b5899d1e68
19:7119460 INSR A>G	19	7119460	7119460	A	G	INSR	c.3794T>C	NM_000208.4	NP_000199.2:p.(Val1265Ala)	NC_000019.9:g.7119460A>G	VUS	1 lab	b58b8d17ba
11:73785559 C2CD3 G>A	11	73785559	73785559	G	A	C2CD3	c.4690C>T	NM_001286577.2	NP_001273506.1:p.(His1564Tyr)	NC_000011.9:g.73785559G>A	VUS	1 lab	b58c514889
11:93911591 PANX1 C>G	11	93911591	93911591	C	G	PANX1	c.378C>G	NM_015368.4	NP_056183.2:p.(Phe126Leu)	NC_000011.9:g.93911591C>G	VUS	1 lab	b58fb95a23
2:179424077 TTN C>T	2	179424077	179424077	C	T	TTN	c.86782G>A	NM_001267550.2	NP_001254479.2:p.(Gly28928Ser)	NC_000002.11:g.179424077C>T	VUS	1 lab	b594aaf057
17:27869627 TAOK1 C>T	17	27869627	27869627	C	T	TAOK1	c.2593C>T	NM_020791.4	NP_065842.1:p.(Arg865Ter)	NC_000017.10:g.27869627C>T	VUS	1 lab	b5969be3bb
7:82544841 PCLO C>T	7	82544841	82544841	C	T	PCLO	c.12461G>A	NM_033026.6	NP_149015.2:p.(Ser4154Asn)	NC_000007.13:g.82544841C>T	VUS	1 lab	b59707d6fc
6:132203470 ENPP1 AT>A	6	132203470	132203474	AT	A	ENPP1	c.2101-11del	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132203474del	(Likely) benign	1 lab	b59722c925
18:50976954 DCC C>T	18	50976954	50976954	C	T	DCC	c.3314C>T	NM_005215.4	NP_005206.2:p.(Thr1105Ile)	NC_000018.9:g.50976954C>T	VUS	1 lab	b5993c9ed4
3:37053589 MLH1 CG>C	3	37053589	37053591	CG	C	MLH1	c.677+1del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053591del	(Likely) pathogenic	1 lab	b59aeba5ea
15:51000061 SPPL2A T>C	15	51000061	51000061	T	C	SPPL2A	c.1499A>G	NM_032802.4	NP_116191.2:p.(His500Arg)	NC_000015.9:g.51000061T>C	VUS	1 lab	b59df9adb9
1:225305427 DNAH14 CT>C	1	225305427	225305430	CT	C	DNAH14	c.3912del	NM_001367479.1	NP_001354408.1:p.(Ser1306AlafsTer9)	NC_000001.10:g.225305430del	(Likely) pathogenic	1 lab	b5a4962a99
12:7047179 ATN1 A>ACGCGAGAAAGAGCGCGAG	12	7047179	7047205	A	ACGCGAGAAAGAGCGCGAG	ATN1	c.2475_2492dup	NM_001007026.2	NP_001007027.1:p.(Arg829_Glu834dup)	NC_000012.11:g.7047188_7047205dup	(Likely) benign	1 lab	b5add20745
3:119132956 ARHGAP31 C>T	3	119132956	119132956	C	T	ARHGAP31	c.2180C>T	NM_020754.4	NP_065805.2:p.(Thr727Ile)	NC_000003.11:g.119132956C>T	(Likely) benign	1 lab	b5ae9810d9
11:118350932 KMT2A T>C	11	118350932	118350932	T	C	KMT2A	c.3613T>C	NM_001197104.2	NP_001184033.1:p.(Tyr1205His)	NC_000011.9:g.118350932T>C	VUS	1 lab	b5af9790a0
2:179426792 TTN TAATA>T	2	179426792	179426796	TAATA	T	TTN	c.84063_84066del	NM_001267550.2	NP_001254479.2:p.(Ile28022ArgfsTer22)	NC_000002.11:g.179426793_179426796del	(Likely) pathogenic	1 lab	b5afc90f19
12:80900348 PTPRQ T>G	12	80900348	80900348	T	G	PTPRQ	c.2456T>G	NM_001145026.2	NP_001138498.1:p.(Val819Gly)	NC_000012.11:g.80900348T>G	(Likely) benign	1 lab	b5b546f0c9
1:53676313 CPT2 TTC>T	1	53676313	53676316	TTC	T	CPT2	c.969_970del	NM_000098.3	NP_000089.1:p.(Phe323LeufsTer6)	NC_000001.10:g.53676315_53676316del	(Likely) pathogenic	1 lab	b5bb14d511
7:100411344 EPHB4 G>T	7	100411344	100411344	G	T	EPHB4	c.1692-6C>A	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100411344G>T	(Likely) benign	1 lab	b5beb21228
X:53584360 HUWE1 G>C	X	53584360	53584360	G	C	HUWE1	c.8189C>G	NM_031407.7	NP_113584.3:p.(Thr2730Ser)	NC_000023.10:g.53584360G>C	VUS	1 lab	b5bf660974
14:89077291 ZC3H14 ATTCAAATTCGTTTTTCTCATGTCAG>A	14	89077291	89077325	ATTCAAATTCGTTTTTCTCATGTCAG	A	ZC3H14	c.2204+17_2204+41del	NM_024824.5	NP_079100.2:p.?	NC_000014.8:g.89077301_89077325del	(Likely) benign	1 lab	b5c286655d
16:89337281 ANKRD11 C>T	16	89337281	89337281	C	T	ANKRD11	c.7750G>A	NM_013275.6	NP_037407.4:p.(Ala2584Thr)	NC_000016.9:g.89337281C>T	VUS	1 lab	b5c9753921
X:22231018 PHEX T>G	X	22231018	22231018	T	G	PHEX	c.1646-3T>G	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22231018T>G	(Likely) pathogenic	1 lab	b5cb91d8ee
9:131380262 SPTAN1 T>G	9	131380262	131380262	T	G	SPTAN1	c.5479-4T>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131380262T>G	(Likely) benign	1 lab	b5cbf0298b
15:51829875 DMXL2 G>C	15	51829875	51829875	G	C	DMXL2	c.1427C>G	NM_001174116.3	NP_001167587.1:p.(Thr476Ser)	NC_000015.9:g.51829875G>C	VUS	1 lab	b5ce4e6d4f
22:40075376 CACNA1I C>T	22	40075376	40075376	C	T	CACNA1I	c.5320C>T	NM_021096.4	NP_066919.2:p.(Arg1774Ter)	NC_000022.10:g.40075376C>T	VUS	1 lab	b5cf93bad2
12:133147097 FBRSL1 G>A	12	133147097	133147097	G	A	FBRSL1	c.1184G>A	NM_001142641.2	NP_001136113.1:p.(Ser395Asn)	NC_000012.11:g.133147097G>A	VUS	1 lab	b62b28a97d
X:31198539 DMD C>G	X	31198539	31198539	C	G	DMD	c.10034G>C	NM_004006.3	NP_003997.2:p.(Arg3345Pro)	NC_000023.10:g.31198539C>G	VUS	1 lab	b5d1eb41f4
X:153008434 ABCD1 C>T	X	153008434	153008434	C	T	ABCD1	c.1781-7C>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153008434C>T	(Likely) benign	1 lab	b5d74caa96
3:129156081 MBD4 G>A	3	129156081	129156081	G	A	MBD4	c.406C>T	NM_003925.3	NP_003916.1:p.(Leu136Phe)	NC_000003.11:g.129156081G>A	VUS	1 lab	b5d7518b17
11:65988663 PACS1 C>T	11	65988663	65988663	C	T	PACS1	c.1238C>T	NM_018026.4	NP_060496.2:p.(Thr413Met)	NC_000011.9:g.65988663C>T	VUS	1 lab	b5d82c6957
10:78839278 KCNMA1 C>A	10	78839278	78839278	C	A	KCNMA1	c.1554G>T	NM_002247.4	NP_002238.2:p.(Lys518Asn)	NC_000010.10:g.78839278C>A	VUS	1 lab	b5df11cd53
22:40657876 TNRC6B C>T	22	40657876	40657876	C	T	TNRC6B	c.156C>T	NM_001162501.2	NP_001155973.1:p.(Ala52=)	NC_000022.10:g.40657876C>T	(Likely) benign	1 lab	b5f41b0205
8:20069244 ATP6V1B2 A>G	8	20069244	20069244	A	G	ATP6V1B2	c.685A>G	NM_001693.4	NP_001684.2:p.(Ile229Val)	NC_000008.10:g.20069244A>G	VUS	1 lab	b5f86cfb81
15:65597098 RNU5B-1 G>A	15	65597098	65597098	G	A	RNU5B-1	n.84G>A	NR_002757.3		NC_000015.9:g.65597098G>A	VUS	1 lab	b5f9f0f96e
19:54650373 CNOT3 A>G	19	54650373	54650373	A	G	CNOT3	c.874A>G	NM_014516.4	NP_055331.1:p.(Thr292Ala)	NC_000019.9:g.54650373A>G	VUS	1 lab	b5fc36cb7c
3:191093175 CCDC50 T>A	3	191093175	191093175	T	A	CCDC50	c.773T>A	NM_178335.3	NP_848018.1:p.(Ile258Asn)	NC_000003.11:g.191093175T>A	(Likely) benign	1 lab	b604e53a74
X:69672462 DLG3 G>C	X	69672462	69672462	G	C	DLG3	c.-10G>C	NM_020730.3	NP_065781.1:p.?	NC_000023.10:g.69672462G>C	(Likely) benign	1 lab	b60a4ce4b6
7:73472040 ELN A>C	7	73472040	73472040	A	C	ELN	c.1501+14A>C	NM_001278939.2	NP_001265868.1:p.?	NC_000007.13:g.73472040A>C	(Likely) benign	1 lab	b618e08d1d
5:176829461 F12 C>T	5	176829461	176829461	C	T	F12	c.1681-1G>A	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176829461C>T	(Likely) pathogenic	1 lab	b61e308fb6
17:76993546 CANT1 A>G	17	76993546	76993546	A	G	CANT1	c.159T>C	NM_138793.4	NP_620148.1:p.(Ala53=)	NC_000017.10:g.76993546A>G	(Likely) benign	1 lab	b62199a164
12:57593101 LRP1 G>A	12	57593101	57593101	G	A	LRP1	c.9783G>A	NM_002332.3	NP_002323.2:p.(Thr3261=)	NC_000012.11:g.57593101G>A	(Likely) benign	1 lab	b62db5cb54
15:89398407 ACAN C>T	15	89398407	89398407	C	T	ACAN	c.2591C>T	NM_013227.4	NP_037359.3:p.(Pro864Leu)	NC_000015.9:g.89398407C>T	(Likely) benign	1 lab	b62e887cae
11:67804070 NDUFS8 G>A	11	67804070	67804070	G	A	NDUFS8	c.*10G>A	NM_002496.4	NP_002487.1:p.?	NC_000011.9:g.67804070G>A	(Likely) benign	1 lab	b6360c49ad
X:70346924 MED12 C>T	X	70346924	70346924	C	T	MED12	c.2791C>T	NM_005120.3	NP_005111.2:p.(Arg931Trp)	NC_000023.10:g.70346924C>T	(Likely) benign	1 lab	b63b5024dd
1:39797460 MACF1 G>T	1	39797460	39797460	G	T	MACF1	c.5200G>T	NM_001394062.1	NP_001380991.1:p.(Ala1734Ser)	NC_000001.10:g.39797460G>T	VUS	1 lab	b63bb1218d
15:52652227 MYO5A CGTT>C	15	52652227	52652231	CGTT	C	MYO5A	c.3358_3360del	NM_000259.3	NP_000250.3:p.(Asn1120del)	NC_000015.9:g.52652229_52652231del	VUS	1 lab	b642dbd914
12:51089734 DIP2B T>A	12	51089734	51089734	T	A	DIP2B	c.1917T>A	NM_173602.3	NP_775873.2:p.(Thr639=)	NC_000012.11:g.51089734T>A	(Likely) benign	1 lab	b6488b1499
8:133153384 KCNQ3 C>T	8	133153384	133153384	C	T	KCNQ3	c.1457G>A	NM_004519.4	NP_004510.1:p.(Ser486Asn)	NC_000008.10:g.133153384C>T	VUS	1 lab	b64b1164be
1:78399207 NEXN C>G	1	78399207	78399207	C	G	NEXN	c.1251+43C>G	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78399207C>G	(Likely) benign	1 lab	b64b98b2ee
21:43161357 RIPK4 T>C	21	43161357	43161357	T	C	RIPK4	c.1996A>G	NM_020639.3	NP_065690.2:p.(Met666Val)	NC_000021.8:g.43161357T>C	(Likely) benign	1 lab	b651dab277
8:2033487 MYOM2 C>T	8	2033487	2033487	C	T	MYOM2	c.1609C>T	NM_003970.4	NP_003961.3:p.(Arg537Cys)	NC_000008.10:g.2033487C>T	VUS	1 lab	b65a289419
X:41200791 DDX3X A>T	X	41200791	41200791	A	T	DDX3X	c.206A>T	NM_001193416.3	NP_001180345.1:p.(Tyr69Phe)	NC_000023.10:g.41200791A>T	VUS	1 lab	b663665b3c
13:33634983 KL C>T	13	33634983	33634983	C	T	KL	c.1767C>T	NM_004795.4	NP_004786.2:p.(His589=)	NC_000013.10:g.33634983C>T	(Likely) benign	1 lab	b66669fbb8
5:10262656 CCT5 G>A	5	10262656	10262656	G	A	CCT5	c.1243G>A	NM_012073.5	NP_036205.1:p.(Asp415Asn)	NC_000005.9:g.10262656G>A	VUS	1 lab	b6699d769d
6:73331991 KCNQ5 CGGCGGCGGGCGGG>C	6	73331991	73332006	CGGCGGCGGGCGGG	C	KCNQ5	c.77_89del	NM_001160133.2	NP_001153605.1:p.(Ala26GlyfsTer7)	NC_000006.11:g.73331994_73332006del	VUS	1 lab	b66c7bfa45
7:2949802 CARD11 G>A	7	2949802	2949802	G	A	CARD11	c.3145-3C>T	NM_032415.7	NP_115791.3:p.?	NC_000007.13:g.2949802G>A	VUS	1 lab	b66f49cc17
11:59603336 CBLIF C>A	11	59603336	59603336	C	A	CBLIF	c.1018G>T	NM_005142.3	NP_005133.2:p.(Gly340Trp)	NC_000011.9:g.59603336C>A	VUS	1 lab	b67071d593
6:118880110 CEP85L G>A	6	118880110	118880110	G	A	CEP85L	c.1020+6582C>T	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118880110G>A	(Likely) pathogenic	1 lab	e05354aeb4
15:75706601 SIN3A G>C	15	75706601	75706601	G	C	SIN3A	c.418C>G	NM_001145358.2	NP_001138830.1:p.(Gln140Glu)	NC_000015.9:g.75706601G>C	VUS	1 lab	b672974daa
14:31578761 HECTD1 G>A	14	31578761	31578761	G	A	HECTD1	c.6322C>T	NM_015382.4	NP_056197.3:p.(Arg2108Ter)	NC_000014.8:g.31578761G>A	VUS	1 lab	b674928682
22:32218738 DEPDC5 A>C	22	32218738	32218738	A	C	DEPDC5	c.2066A>C	NM_001242896.3	NP_001229825.1:p.(Glu689Ala)	NC_000022.10:g.32218738A>C	VUS	1 lab	b6793f1449
17:78176233 CARD14 T>A	17	78176233	78176233	T	A	CARD14	c.*10T>A	NM_001257970.1	NP_001244899.1:p.?	NC_000017.10:g.78176233T>A	(Likely) benign	1 lab	b67ec796ec
17:73736077 ITGB4 C>T	17	73736077	73736077	C	T	ITGB4	c.2371C>T	NM_001005731.3	NP_001005731.1:p.(Arg791Cys)	NC_000017.10:g.73736077C>T	VUS	1 lab	b67f02dc69
5:180053307 FLT4 A>G	5	180053307	180053307	A	G	FLT4	c.1104-42T>C	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180053307A>G	(Likely) benign	1 lab	b680ec8fb8
7:157162068 DNAJB6 T>C	7	157162068	157162068	T	C	DNAJB6	c.346+1891T>C	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157162068T>C	(Likely) benign	1 lab	b6824df705
1:11227537 MTOR C>T	1	11227537	11227537	C	T	MTOR	c.4291G>A	NM_004958.4	NP_004949.1:p.(Gly1431Arg)	NC_000001.10:g.11227537C>T	VUS	1 lab	b682faf37c
15:43552360 TGM5 G>A	15	43552360	43552360	G	A	TGM5	c.326C>T	NM_201631.4	NP_963925.2:p.(Thr109Met)	NC_000015.9:g.43552360G>A	(Likely) pathogenic	1 lab	b684cfdea0
7:144096925 NOBOX C>T	7	144096925	144096925	C	T	NOBOX	c.1079G>A	NM_001080413.3	NP_001073882.3:p.(Arg360Gln)	NC_000007.13:g.144096925C>T	VUS	1 lab	b6851338d6
2:197297943 HECW2 T>C	2	197297943	197297943	T	C	HECW2	c.205A>G	NM_020760.4	NP_065811.1:p.(Thr69Ala)	NC_000002.11:g.197297943T>C	VUS	1 lab	b688b668ee
17:7127021 ACADVL A>C	17	7127021	7127021	A	C	ACADVL	c.1241A>C	NM_000018.4	NP_000009.1:p.(Glu414Ala)	NC_000017.10:g.7127021A>C	VUS	1 lab	b6925e1a4d
2:48718253 PPP1R21 G>A	2	48718253	48718253	G	A	PPP1R21	c.1543G>A	NM_001135629.3	NP_001129101.1:p.(Glu515Lys)	NC_000002.11:g.48718253G>A	VUS	1 lab	b69719e661
5:1420713 SLC6A3 C>T	5	1420713	1420713	C	T	SLC6A3	c.898G>A	NM_001044.5	NP_001035.1:p.(Val300Ile)	NC_000005.9:g.1420713C>T	VUS	1 lab	b6a2f7cdd2
16:85690195 GSE1 C>T	16	85690195	85690195	C	T	GSE1	c.1236C>T	NM_014615.5	NP_055430.1:p.(Ala412=)	NC_000016.9:g.85690195C>T	(Likely) benign	1 lab	b6a939bd45
11:102822733 MMP13 C>T	11	102822733	102822733	C	T	MMP13	c.799+8G>A	NM_002427.4	NP_002418.1:p.?	NC_000011.9:g.102822733C>T	(Likely) benign	1 lab	b6ab0f7b92
5:71495412 MAP1B G>A	5	71495412	71495412	G	A	MAP1B	c.6230G>A	NM_005909.5	NP_005900.2:p.(Arg2077His)	NC_000005.9:g.71495412G>A	(Likely) benign	1 lab	b6ab5225ce
2:219855701 CRYBA2 G>A	2	219855701	219855701	G	A	CRYBA2	c.319C>T	NM_057093.2	NP_476434.1:p.(Arg107Cys)	NC_000002.11:g.219855701G>A	VUS	1 lab	b6aba2dd77
21:47552283 COL6A2 G>C	21	47552283	47552283	G	C	COL6A2	c.2877G>C	NM_001849.4	NP_001840.3:p.(Glu959Asp)	NC_000021.8:g.47552283G>C	VUS	1 lab	b6b2f238a8
7:128493077 FLNC G>A	7	128493077	128493077	G	A	FLNC	c.6200G>A	NM_001458.5	NP_001449.3:p.(Arg2067His)	NC_000007.13:g.128493077G>A	VUS	1 lab	b6be0bed34
4:6580193 MAN2B2 C>T	4	6580193	6580193	C	T	MAN2B2	c.359C>T	NM_015274.3	NP_056089.1:p.(Thr120Met)	NC_000004.11:g.6580193C>T	VUS	1 lab	b6be265343
10:75849046 VCL G>A	10	75849046	75849046	G	A	VCL	c.1115G>A	NM_014000.3	NP_054706.1:p.(Arg372His)	NC_000010.10:g.75849046G>A	VUS	1 lab	b6c1c97310
1:231401024 GNPAT TC>T	1	231401024	231401028	TC	T	GNPAT	c.569-11del	NM_014236.4	NP_055051.1:p.?	NC_000001.10:g.231401028del	(Likely) benign	1 lab	b6c226537b
19:48901651 MISSING T>G	19	48901651	48901651	T	G	MISSING				NC_000019.9:g.48901651T>G	VUS	1 lab	b6c39d859d
17:38978765 KRT10 A>ATCC	17	38978765	38978789	A	ATCC	KRT10	c.70_72dup	NM_000421.5	NP_000412.4:p.(Gly24dup)	NC_000017.10:g.38978787_38978789dup	VUS	1 lab	b6c9899701
16:89805026 FANCA C>G	16	89805026	89805026	C	G	FANCA	c.4351G>C	NM_000135.4	NP_000126.2:p.(Glu1451Gln)	NC_000016.9:g.89805026C>G	VUS	1 lab	b6c99e2790
9:117844044 TNC TACTC>T	9	117844044	117844050	TACTC	T	TNC	c.2404+3_2404+6del	NM_002160.4	NP_002151.2:p.?	NC_000009.11:g.117844047_117844050del	VUS	1 lab	b6cc0e79e9
4:114294528 ANK2 G>C	4	114294528	114294528	G	C	ANK2	c.11782G>C	NM_001148.6	NP_001139.3:p.(Val3928Leu)	NC_000004.11:g.114294528G>C	VUS	1 lab	b6d1801ac1
8:22873203 RHOBTB2 A>G	8	22873203	22873203	A	G	RHOBTB2	c.1979A>G	NM_001160036.2	NP_001153508.1:p.(Asn660Ser)	NC_000008.10:g.22873203A>G	VUS	1 lab	b6d2c89d7c
17:34171367 TAF15 G>A	17	34171367	34171367	G	A	TAF15	c.1172G>A	NM_139215.3	NP_631961.1:p.(Gly391Glu)	NC_000017.10:g.34171367G>A	VUS	1 lab	b6d30f931b
11:108385294 EXPH5 TC>T	11	108385294	108385295	TC	T	EXPH5	c.939del	NM_015065.3	NP_055880.2:p.(Asn314IlefsTer76)	NC_000011.9:g.108385295del	(Likely) pathogenic	1 lab	b6d639aec4
10:89624301 PTEN GA>G	10	89624301	89624302	GA	G	PTEN	c.76del	NM_000314.8	NP_000305.3:p.(Thr26ProfsTer28)	NC_000010.10:g.89624302del	(Likely) pathogenic	1 lab	b6d6eb4e45
15:40494810 BUB1B G>A	15	40494810	40494810	G	A	BUB1B	c.1649G>A	NM_001211.6	NP_001202.5:p.(Arg550Gln)	NC_000015.9:g.40494810G>A	(Likely) benign	1 lab	b6dadb1ad1
8:100711875 VPS13B A>G	8	100711875	100711875	A	G	VPS13B	c.6244A>G	NM_017890.5	NP_060360.3:p.(Thr2082Ala)	NC_000008.10:g.100711875A>G	VUS	1 lab	b6db216e62
7:87082333 ABCB4 G>GA	7	87082333	87082339	G	GA	ABCB4	c.462dup	NM_000443.4	NP_000434.1:p.(His155SerfsTer12)	NC_000007.13:g.87082339dup	(Likely) pathogenic	1 lab	b6e412edba
10:131671761 EBF3 G>A	10	131671761	131671761	G	A	EBF3	c.736C>T	NM_001005463.3	NP_001005463.1:p.(Arg246Cys)	NC_000010.10:g.131671761G>A	VUS	1 lab	b6fa15d631
5:1279456 TERT C>T	5	1279456	1279456	C	T	TERT	c.2080G>A	NM_198253.3	NP_937983.2:p.(Val694Met)	NC_000005.9:g.1279456C>T	(Likely) pathogenic	1 lab	b6fccc704b
10:43609990 RET G>A	10	43609990	43609990	G	A	RET	c.1942G>A	NM_020975.6	NP_066124.1:p.(Val648Ile)	NC_000010.10:g.43609990G>A	(Likely) benign	1 lab	b70063caa9
15:56387687 RFX7 G>A	15	56387687	56387687	G	A	RFX7	c.2239C>T	NM_022841.7	NP_073752.6:p.(Gln747Ter)	NC_000015.9:g.56387687G>A	(Likely) pathogenic	1 lab	b700b5df4b
2:179614097 TTN T>A	2	179614097	179614097	T	A	TTN	c.13030A>T	NM_133379.5	NP_596870.2:p.(Ile4344Leu)	NC_000002.11:g.179614097T>A	VUS	1 lab	b70aeee109
11:96075056 MAML2 C>T	11	96075056	96075056	C	T	MAML2	c.4G>A	NM_032427.4	NP_115803.1:p.(Gly2Arg)	NC_000011.9:g.96075056C>T	VUS	1 lab	b717996322
11:6635871 TPP1 C>T	11	6635871	6635871	C	T	TPP1	c.1598G>A	NM_000391.4	NP_000382.3:p.(Gly533Asp)	NC_000011.9:g.6635871C>T	VUS	1 lab	b71bb40839
2:219896216 CFAP65 A>AT	2	219896216	219896218	A	AT	CFAP65	c.809dup	NM_194302.4	NP_919278.2:p.(Asn270LysfsTer126)	NC_000002.11:g.219896218dup	(Likely) pathogenic	1 lab	b71bf3ec28
5:150639409 GM2A A>G	5	150639409	150639409	A	G	GM2A	c.175A>G	NM_000405.5	NP_000396.2:p.(Ile59Val)	NC_000005.9:g.150639409A>G	(Likely) benign	1 lab	b72091fec6
X:47308509 ZNF41 A>C	X	47308509	47308509	A	C	ZNF41	c.660T>G	NM_001324144.2	NP_001311073.1:p.(Asn220Lys)	NC_000023.10:g.47308509A>C	(Likely) benign	1 lab	b7192475ca
6:79727285 PHIP G>A	6	79727285	79727285	G	A	PHIP	c.1010C>T	NM_017934.7	NP_060404.4:p.(Ala337Val)	NC_000006.11:g.79727285G>A	(Likely) benign	1 lab	b724c1b759
9:21971135 CDKN2A G>A	9	21971135	21971135	G	A	CDKN2A	c.223C>T	NM_001195132.2	NP_001182061.1:p.(Pro75Ser)	NC_000009.11:g.21971135G>A	VUS	1 lab	b73123c4b8
1:152325697 FLG2 TG>T	1	152325697	152325698	TG	T	FLG2	c.4564del	NM_001014342.3	NP_001014364.1:p.(His1522ThrfsTer14)	NC_000001.10:g.152325698del	VUS	1 lab	b734c39c52
20:40162203 CHD6 T>C	20	40162203	40162203	T	C	CHD6	c.40A>G	NM_032221.5	NP_115597.3:p.(Asn14Asp)	NC_000020.10:g.40162203T>C	VUS	1 lab	b73de5d5b6
20:62290784 RTEL1 C>T	20	62290784	62290784	C	T	RTEL1	c.29C>T	NM_032957.5	NP_116575.3:p.(Thr10Ile)	NC_000020.10:g.62290784C>T	VUS	1 lab	b7415a37e4
12:6441166 TNFRSF1A C>CAAA	12	6441166	6441190	C	CAAA	TNFRSF1A	c.551+1066_551+1068dup	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6441188_6441190dup	(Likely) benign	1 lab	b742193555
8:144900432 PUF60 C>CT	8	144900432	144900433	C	CT	PUF60	c.533dup	NM_078480.3	NP_510965.1:p.(Val179GlyfsTer42)	NC_000008.10:g.144900433dup	(Likely) pathogenic	1 lab	b743de54e6
1:3347611 PRDM16 G>A	1	3347611	3347611	G	A	PRDM16	c.3460G>A	NM_022114.4	NP_071397.3:p.(Glu1154Lys)	NC_000001.10:g.3347611G>A	VUS	1 lab	b749bc9f46
1:7723485 CAMTA1 G>A	1	7723485	7723485	G	A	CAMTA1	c.878G>A	NM_015215.4	NP_056030.1:p.(Arg293Gln)	NC_000001.10:g.7723485G>A	(Likely) benign	1 lab	b74b485090
18:77170954 NFATC1 G>T	18	77170954	77170954	G	T	NFATC1	c.679G>T	NM_006162.5	NP_006153.2:p.(Ala227Ser)	NC_000018.9:g.77170954G>T	VUS	1 lab	b74d441f6e
20:6759416 BMP2 C>T	20	6759416	6759416	C	T	BMP2	c.871C>T	NM_001200.4	NP_001191.1:p.(Arg291Cys)	NC_000020.10:g.6759416C>T	VUS	1 lab	b74d8df8f9
17:62476451 POLG2 C>G	17	62476451	62476451	C	G	POLG2	c.1247G>C	NM_007215.4	NP_009146.2:p.(Gly416Ala)	NC_000017.10:g.62476451C>G	(Likely) benign	1 lab	d9e83f2e33
11:6651670 DCHS1 C>T	11	6651670	6651670	C	T	DCHS1	c.4355G>A	NM_003737.4	NP_003728.1:p.(Gly1452Asp)	NC_000011.9:g.6651670C>T	VUS	1 lab	b755fb61be
X:154736715 TMLHE T>C	X	154736715	154736715	T	C	TMLHE	c.839A>G	NM_018196.4	NP_060666.1:p.(Gln280Arg)	NC_000023.10:g.154736715T>C	VUS	1 lab	b757256348
1:7807838 CAMTA1 A>AC	1	7807838	7807839	A	AC	CAMTA1	c.4687dup	NM_015215.4	NP_056030.1:p.(Gln1563ProfsTer6)	NC_000001.10:g.7807839dup	(Likely) pathogenic	1 lab	b75ce418d7
1:226032229 EPHX1 C>T	1	226032229	226032229	C	T	EPHX1	c.1071C>T	NM_000120.4	NP_000111.1:p.(Asn357=)	NC_000001.10:g.226032229C>T	(Likely) benign	1 lab	b75cfd9fb3
2:211507258 CPS1 C>T	2	211507258	211507258	C	T	CPS1	c.3010C>T	NM_001875.5	NP_001866.2:p.(Arg1004Cys)	NC_000002.11:g.211507258C>T	VUS	1 lab	b75f1bc787
2:179454045 TTN A>G	2	179454045	179454045	A	G	TTN	c.62407T>C	NM_001267550.2	NP_001254479.2:p.(Trp20803Arg)	NC_000002.11:g.179454045A>G	VUS	1 lab	b7641f832a
17:7809937 CHD3 C>T	17	7809937	7809937	C	T	CHD3	c.4602C>T	NM_001005271.3	NP_001005271.2:p.(Ala1534=)	NC_000017.10:g.7809937C>T	(Likely) benign	1 lab	b764f16662
11:5274452 HBG2 G>GT	11	5274452	5274453	G	GT	HBG2	c.*54_*55insA	NM_000184.3	NP_000175.1:p.?	NC_000011.9:g.5274452_5274453insT	(Likely) benign	1 lab	b765537188
8:38277238 FGFR1 G>A	8	38277238	38277238	G	A	FGFR1	c.1097C>T	NM_023110.3	NP_075598.2:p.(Pro366Leu)	NC_000008.10:g.38277238G>A	VUS	1 lab	b76556454a
11:64563820 MAP4K2 A>T	11	64563820	64563820	A	T	MAP4K2	c.1676T>A	NM_004579.5	NP_004570.2:p.(Phe559Tyr)	NC_000011.9:g.64563820A>T	VUS	1 lab	b76aa04d2c
17:41234592 BRCA1 G>A	17	41234592	41234592	G	A	BRCA1	c.4186C>T	NM_007294.4	NP_009225.1:p.(Gln1396Ter)	NC_000017.10:g.41234592G>A	(Likely) pathogenic	1 lab	b771b98ebb
16:89592797 SPG7 C>CG	16	89592797	89592798	C	CG	SPG7	c.680dup	NM_003119.4	NP_003110.1:p.(Ala228SerfsTer3)	NC_000016.9:g.89592798dup	(Likely) pathogenic	1 lab	b77463791a
7:21940829 DNAH11 C>T	7	21940829	21940829	C	T	DNAH11	c.13508C>T	NM_001277115.2	NP_001264044.1:p.(Ala4503Val)	NC_000007.13:g.21940829C>T	VUS	1 lab	b781fe40ba
10:88451707 LDB3 T>A	10	88451707	88451707	T	A	LDB3	c.948T>A	NM_001171610.2	NP_001165081.1:p.(Ala316=)	NC_000010.10:g.88451707T>A	(Likely) benign	1 lab	b785a3671f
14:21833262 SUPT16H T>C	14	21833262	21833262	T	C	SUPT16H	c.1087A>G	NM_007192.4	NP_009123.1:p.(Ile363Val)	NC_000014.8:g.21833262T>C	(Likely) benign	1 lab	b78d5b663f
20:57415559 GNAS-AS1 C>T	20	57415559	57415559	C	T	GNAS-AS1	n.672+1433G>A	NR_185847.1		NC_000020.10:g.57415559C>T	VUS	1 lab	e191e4361e
6:49411477 MMUT G>C	6	49411477	49411477	G	C	MMUT	c.1676+875C>G	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49411477G>C	(Likely) benign	1 lab	b78de2972e
X:154159765 F8 T>C	X	154159765	154159765	T	C	F8	c.2300A>G	NM_000132.4	NP_000123.1:p.(His767Arg)	NC_000023.10:g.154159765T>C	VUS	1 lab	b78fa36ef2
X:46713481 RP2 C>T	X	46713481	46713481	C	T	RP2	c.673C>T	NM_006915.3	NP_008846.2:p.(Arg225Trp)	NC_000023.10:g.46713481C>T	VUS	1 lab	b78fe5fcf4
6:85473848 TBX18 G>A	6	85473848	85473848	G	A	TBX18	c.52C>T	NM_001080508.3	NP_001073977.1:p.(His18Tyr)	NC_000006.11:g.85473848G>A	VUS	1 lab	b79474c576
11:119148970 CBL G>A	11	119148970	119148970	G	A	CBL	c.1190G>A	NM_005188.4	NP_005179.2:p.(Gly397Glu)	NC_000011.9:g.119148970G>A	VUS	1 lab	b79e2dd943
2:167133481 SCN9A CT>C	2	167133481	167133482	CT	C	SCN9A	c.2841+11del	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133482del	(Likely) benign	1 lab	b79f1e4b0d
6:138192539 TNFAIP3 C>T	6	138192539	138192539	C	T	TNFAIP3	c.175C>T	NM_006290.4	NP_006281.1:p.(Gln59Ter)	NC_000006.11:g.138192539C>T	(Likely) pathogenic	1 lab	b7a0b0a5d1
15:85402498 ALPK3 G>A	15	85402498	85402498	G	A	ALPK3	c.3842G>A	NM_020778.5	NP_065829.4:p.(Arg1281Gln)	NC_000015.9:g.85402498G>A	VUS	1 lab	b7a2e810b4
10:14976727 DCLRE1C G>C	10	14976727	14976727	G	C	DCLRE1C	c.152C>G	NM_001033858.3	NP_001029030.1:p.(Pro51Arg)	NC_000010.10:g.14976727G>C	(Likely) benign	1 lab	b7a5169fc7
14:55510147 SOCS4 G>C	14	55510147	55510147	G	C	SOCS4	c.388G>C	NM_199421.2	NP_955453.1:p.(Asp130His)	NC_000014.8:g.55510147G>C	VUS	1 lab	b7aadb7ab4
5:112043224 APC T>C	5	112043224	112043224	T	C	APC	c.-191T>C	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043224T>C	(Likely) pathogenic	1 lab	b7acd4885e
3:4712413 ITPR1 G>A	3	4712413	4712413	G	A	ITPR1	c.1962G>A	NM_001168272.2	NP_001161744.1:p.(Lys654=)	NC_000003.11:g.4712413G>A	(Likely) benign	1 lab	b7b3b47d6d
7:45039967 CCM2 G>T	7	45039967	45039967	G	T	CCM2	c.30+5G>T	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45039967G>T	(Likely) pathogenic	1 lab	b7b7b6e4a5
12:112892440 PTPN11 A>T	12	112892440	112892440	A	T	PTPN11	c.598A>T	NM_002834.5	NP_002825.3:p.(Asn200Tyr)	NC_000012.11:g.112892440A>T	(Likely) pathogenic	1 lab	b7bb7c0b00
8:61748646 CHD7 AT>A	8	61748646	61748650	AT	A	CHD7	c.3797del	NM_017780.4	NP_060250.2:p.(Leu1266TrpfsTer20)	NC_000008.10:g.61748650del	(Likely) pathogenic	1 lab	b7bd5c8419
11:78775836 TENM4 C>T	11	78775836	78775836	C	T	TENM4	c.440G>A	NM_001098816.3	NP_001092286.2:p.(Arg147Gln)	NC_000011.9:g.78775836C>T	(Likely) benign	1 lab	b7bef0a3f0
2:179391984 TTN CT>C	2	179391984	179391986	CT	C	TTN	c.107730del	NM_001267550.2	NP_001254479.2:p.(Gly35911AlafsTer4)	NC_000002.11:g.179391986del	VUS	1 lab	b7c1d32c7a
16:2121839 TSC2 A>G	16	2121839	2121839	A	G	TSC2	c.2001A>G	NM_000548.5	NP_000539.2:p.(Thr667=)	NC_000016.9:g.2121839A>G	(Likely) benign	1 lab	b7c2c8d5fb
10:79397251 KCNMA1 AGAAGAAGAG>A	10	79397251	79397265	AGAAGAAGAG	A	KCNMA1	c.141_149del	NM_002247.4	NP_002238.2:p.(Ser58_Ser60del)	NC_000010.10:g.79397257_79397265del	VUS	1 lab	b7c2e3f78a
8:97157344 GDF6 G>A	8	97157344	97157344	G	A	GDF6	c.815C>T	NM_001001557.4	NP_001001557.1:p.(Pro272Leu)	NC_000008.10:g.97157344G>A	VUS	1 lab	b7c30cdfff
3:130717185 ATP2C1 A>G	3	130717185	130717185	A	G	ATP2C1	c.2439A>G	NM_001199179.3	NP_001186108.1:p.(Thr813=)	NC_000003.11:g.130717185A>G	(Likely) benign	1 lab	b7c3feb4eb
3:48508517 TREX1 A>G	3	48508517	48508517	A	G	TREX1	c.463A>G	NM_033629.6	NP_338599.1:p.(Ser155Gly)	NC_000003.11:g.48508517A>G	VUS	1 lab	b7c85a2cba
17:41744124 MISSING 41796097>DEL	17	41744124	41796097	41796097	DEL	MISSING				NC_000017.10:g.41744124_41796097del	(Likely) pathogenic	1 lab	b7c8899939
5:112179728 APC A>T	5	112179728	112179728	A	T	APC	c.8437A>T	NM_000038.6	NP_000029.2:p.(Thr2813Ser)	NC_000005.9:g.112179728A>T	VUS	1 lab	b7c8c40b83
8:126071664 WASHC5 T>C	8	126071664	126071664	T	C	WASHC5	c.1642A>G	NM_014846.4	NP_055661.3:p.(Met548Val)	NC_000008.10:g.126071664T>C	VUS	1 lab	b7c91a5d0c
12:6575137 VAMP1 GT>G	12	6575137	6575138	GT	G	VAMP1	c.158del	NM_014231.5	NP_055046.1:p.(Asp53AlafsTer34)	NC_000012.11:g.6575138del	(Likely) pathogenic	1 lab	b7d15192b3
6:152771884 SYNE1 G>A	6	152771884	152771884	G	A	SYNE1	c.3271C>T	NM_182961.4	NP_892006.3:p.(Arg1091Trp)	NC_000006.11:g.152771884G>A	(Likely) benign	1 lab	b7d544e209
19:1004998 GRIN3B G>A	19	1004998	1004998	G	A	GRIN3B	c.1498G>A	NM_138690.3	NP_619635.1:p.(Val500Met)	NC_000019.9:g.1004998G>A	VUS	1 lab	b7d5f5b6a9
7:100247680 ACTL6B T>C	7	100247680	100247680	T	C	ACTL6B	c.448A>G	NM_016188.5	NP_057272.1:p.(Lys150Glu)	NC_000007.13:g.100247680T>C	VUS	1 lab	b7d85c6dd1
14:103436565 CDC42BPB C>T	14	103436565	103436565	C	T	CDC42BPB	c.1918G>A	NM_006035.4	NP_006026.3:p.(Ala640Thr)	NC_000014.8:g.103436565C>T	VUS	1 lab	b7dd47e18d
22:50962208 SCO2 T>G	22	50962208	50962208	T	G	SCO2	c.633A>C	NM_001169109.2	NP_001162580.1:p.(Ala211=)	NC_000022.10:g.50962208T>G	(Likely) benign	1 lab	b7e567c73b
3:129151450 MBD4 C>A	3	129151450	129151450	C	A	MBD4	c.1562-1G>T	NM_003925.3	NP_003916.1:p.?	NC_000003.11:g.129151450C>A	(Likely) pathogenic	1 lab	b7e5909fdc
1:8716321 RERE C>CTCTTTG	1	8716321	8716347	C	CTCTTTG	RERE	c.30_35dup	NM_012102.4	NP_036234.3:p.(Asp10_Lys11dup)	NC_000001.10:g.8716342_8716347dup	(Likely) benign	1 lab	b7e734bb49
2:179486301 TTN T>C	2	179486301	179486301	T	C	TTN	c.45250A>G	NM_001267550.2	NP_001254479.2:p.(Lys15084Glu)	NC_000002.11:g.179486301T>C	VUS	1 lab	b7e78cf867
5:80021274 MSH3 T>A	5	80021274	80021274	T	A	MSH3	c.1343T>A	NM_002439.5	NP_002430.3:p.(Val448Glu)	NC_000005.9:g.80021274T>A	VUS	1 lab	b7f020c6e7
5:74677007 CERT1 C>T	5	74677007	74677007	C	T	CERT1	c.2021G>A	NM_001130105.1	NP_001123577.1:p.(Arg674His)	NC_000005.9:g.74677007C>T	VUS	1 lab	b7f3bcc197
13:32932067 BRCA2 G>T	13	32932067	32932067	G	T	BRCA2	c.7805+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32932067G>T	(Likely) pathogenic	1 lab	b7ff395b12
5:178310882 ZNF354B C>CA	5	178310882	178310883	C	CA	ZNF354B	c.1430dup	NM_058230.3	NP_478137.1:p.(Ser478GlufsTer18)	NC_000005.9:g.178310883dup	VUS	1 lab	b7ffbe1557
19:12981902 MAST1 G>A	19	12981902	12981902	G	A	MAST1	c.3179G>A	NM_014975.3	NP_055790.1:p.(Arg1060His)	NC_000019.9:g.12981902G>A	VUS	1 lab	b800066cac
6:87970351 ZNF292 G>A	6	87970351	87970351	G	A	ZNF292	c.7004G>A	NM_015021.3	NP_055836.1:p.(Arg2335Gln)	NC_000006.11:g.87970351G>A	(Likely) benign	1 lab	b809f9c228
2:233406177 CHRNG C>T	2	233406177	233406177	C	T	CHRNG	c.444C>T	NM_005199.5	NP_005190.4:p.(Ser148=)	NC_000002.11:g.233406177C>T	(Likely) benign	1 lab	b80b3c96f6
2:197143277 HECW2 C>T	2	197143277	197143277	C	T	HECW2	c.3110G>A	NM_020760.4	NP_065811.1:p.(Arg1037Lys)	NC_000002.11:g.197143277C>T	VUS	1 lab	b80bd71ab9
10:17171265 CUBN G>C	10	17171265	17171265	G	C	CUBN	c.123-16C>G	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17171265G>C	(Likely) benign	1 lab	b8144b49c5
6:56400095 DST A>T	6	56400095	56400095	A	T	DST	c.10414-5T>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56400095A>T	VUS	1 lab	b815709d1b
1:155448612 ASH1L CT>C	1	155448612	155448616	CT	C	ASH1L	c.4048del	NM_018489.3	NP_060959.2:p.(Arg1350GlufsTer7)	NC_000001.10:g.155448616del	(Likely) pathogenic	1 lab	b816362525
2:228758555 DAW1 C>T	2	228758555	228758555	C	T	DAW1	c.362C>T	NM_178821.3	NP_849143.1:p.(Thr121Ile)	NC_000002.11:g.228758555C>T	(Likely) benign	1 lab	b819ce4561
1:209963903 IRF6 C>T	1	209963903	209963903	C	T	IRF6	c.997G>A	NM_006147.4	NP_006138.1:p.(Ala333Thr)	NC_000001.10:g.209963903C>T	(Likely) benign	1 lab	b81cb6c990
9:130942732 CIZ1 A>G	9	130942732	130942732	A	G	CIZ1	c.843T>C	NM_001257975.2	NP_001244904.1:p.(Pro281=)	NC_000009.11:g.130942732A>G	(Likely) benign	1 lab	b81e47a087
3:57857395 SLMAP A>G	3	57857395	57857395	A	G	SLMAP	c.1219A>G	NM_001304420.3	NP_001291349.1:p.(Thr407Ala)	NC_000003.11:g.57857395A>G	VUS	1 lab	b81f415611
11:70666754 SHANK2 C>T	11	70666754	70666754	C	T	SHANK2	c.1208G>A	NM_012309.5	NP_036441.2:p.(Arg403His)	NC_000011.9:g.70666754C>T	VUS	1 lab	b81fc93106
8:97343324 PTDSS1 G>T	8	97343324	97343324	G	T	PTDSS1	c.1312+1G>T	NM_014754.3	NP_055569.1:p.?	NC_000008.10:g.97343324G>T	VUS	1 lab	b81fe0d640
2:179460478 TTN G>T	2	179460478	179460478	G	T	TTN	c.57603C>A	NM_001267550.2	NP_001254479.2:p.(Cys19201Ter)	NC_000002.11:g.179460478G>T	(Likely) pathogenic	1 lab	b8218d06b7
10:21169820 NEBL T>C	10	21169820	21169820	T	C	NEBL	c.383A>G	NM_006393.3	NP_006384.1:p.(Gln128Arg)	NC_000010.10:g.21169820T>C	VUS	1 lab	b8309d50ee
19:10252867 DNMT1 G>A	19	10252867	10252867	G	A	DNMT1	c.3098C>T	NM_001379.4	NP_001370.1:p.(Ala1033Val)	NC_000019.9:g.10252867G>A	VUS	1 lab	b83452720c
5:14508502 TRIO C>G	5	14508502	14508502	C	G	TRIO	c.9265C>G	NM_007118.4	NP_009049.2:p.(Leu3089Val)	NC_000005.9:g.14508502C>G	VUS	1 lab	b835d66425
6:32805307 TAP2 C>T	6	32805307	32805307	C	T	TAP2				NC_000006.11:g.32805307C>T	(Likely) benign	1 lab	b836e9abb1
19:47983600 KPTN G>A	19	47983600	47983600	G	A	KPTN	c.664C>T	NM_007059.4	NP_008990.2:p.(Gln222Ter)	NC_000019.9:g.47983600G>A	(Likely) pathogenic	1 lab	b83cb2bb26
12:14829893 GUCY2C A>C	12	14829893	14829893	A	C	GUCY2C	c.843T>G	NM_004963.4	NP_004954.2:p.(Phe281Leu)	NC_000012.11:g.14829893A>C	(Likely) benign	1 lab	b83d24b2cd
15:44903108 SPG11 C>G	15	44903108	44903108	C	G	SPG11	c.3221G>C	NM_025137.4	NP_079413.3:p.(Ser1074Thr)	NC_000015.9:g.44903108C>G	VUS	1 lab	b83d6c904e
10:64968121 JMJD1C T>C	10	64968121	64968121	T	C	JMJD1C	c.3308A>G	NM_032776.3	NP_116165.1:p.(Asn1103Ser)	NC_000010.10:g.64968121T>C	VUS	1 lab	b844b1c820
12:52965722 KRT74 T>C	12	52965722	52965722	T	C	KRT74	c.747+6A>G	NM_175053.4	NP_778223.2:p.?	NC_000012.11:g.52965722T>C	(Likely) benign	1 lab	b8490335fa
3:128890350 CNBP G>A	3	128890350	128890350	G	A	CNBP	c.156C>T	NM_001127192.2	NP_001120664.1:p.(Asp52=)	NC_000003.11:g.128890350G>A	(Likely) benign	1 lab	b8523983f6
2:166901611 SCN1A C>G	2	166901611	166901611	C	G	SCN1A	c.1604G>C	NM_001165963.4	NP_001159435.1:p.(Arg535Pro)	NC_000002.11:g.166901611C>G	VUS	1 lab	b853ad0489
2:48032849 MSH6 A>G	2	48032849	48032849	A	G	MSH6	c.3646+3A>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032849A>G	(Likely) benign	1 lab	b8574d5118
13:32911876 BRCA2 TCA>T	13	32911876	32911878	TCA	T	BRCA2	c.3385_3386del	NM_000059.4	NP_000050.3:p.(Gln1129ValfsTer2)	NC_000013.10:g.32911877_32911878del	(Likely) pathogenic	1 lab	b857a99cca
14:102500674 DYNC1H1 A>G	14	102500674	102500674	A	G	DYNC1H1	c.10639A>G	NM_001376.5	NP_001367.2:p.(Ile3547Val)	NC_000014.8:g.102500674A>G	VUS	1 lab	b8585d07f2
X:19363863 PDHA1 TC>T	X	19363863	19363875	TC	T	PDHA1	c.57+1663del	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19363875del	(Likely) benign	1 lab	b85dde0f80
9:4583120 SLC1A1 G>A	9	4583120	4583120	G	A	SLC1A1	c.1276G>A	NM_004170.6	NP_004161.4:p.(Val426Met)	NC_000009.11:g.4583120G>A	VUS	1 lab	b8617a62bf
4:72215750 SLC4A4 A>G	4	72215750	72215750	A	G	SLC4A4	c.511A>G	NM_001098484.3	NP_001091954.1:p.(Met171Val)	NC_000004.11:g.72215750A>G	(Likely) benign	1 lab	b86432d399
19:51220160 SHANK1 G>T	19	51220160	51220160	G	T	SHANK1	c.17C>A	NM_016148.5	NP_057232.2:p.(Ala6Glu)	NC_000019.9:g.51220160G>T	VUS	1 lab	b8661ccc91
14:105833616 PACS2 G>T	14	105833616	105833616	G	T	PACS2	c.490G>T	NM_001100913.3	NP_001094383.2:p.(Val164Phe)	NC_000014.8:g.105833616G>T	VUS	1 lab	b866bf09e8
X:24826649 POLA1 G>A	X	24826649	24826649	G	A	POLA1	c.2947-1366G>A	NM_016937.4	NP_058633.2:p.?	NC_000023.10:g.24826649G>A	(Likely) benign	1 lab	b86790df28
X:128582347 SMARCA1 C>T	X	128582347	128582347	C	T	SMARCA1	c.3104G>A	NM_003069.5	NP_003060.2:p.(Arg1035Lys)	NC_000023.10:g.128582347C>T	VUS	1 lab	b867e1cfce
7:5754755 RNF216 C>T	7	5754755	5754755	C	T	RNF216	c.1762G>A	NM_207111.4	NP_996994.1:p.(Ala588Thr)	NC_000007.13:g.5754755C>T	VUS	1 lab	b86a48bfcf
10:6063605 IL2RA T>C	10	6063605	6063605	T	C	IL2RA	c.419A>G	NM_000417.3	NP_000408.1:p.(Tyr140Cys)	NC_000010.10:g.6063605T>C	(Likely) pathogenic	1 lab	b86c199d6e
14:23885506 MYH7 C>T	14	23885506	23885506	C	T	MYH7	c.4660G>A	NM_000257.4	NP_000248.2:p.(Glu1554Lys)	NC_000014.8:g.23885506C>T	VUS	1 lab	b87a128bac
6:33410664 SYNGAP1 A>C	6	33410664	33410664	A	C	SYNGAP1	c.2337-2A>C	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33410664A>C	(Likely) pathogenic	1 lab	b8810d26de
19:19456123 MAU2 G>C	19	19456123	19456123	G	C	MAU2	c.1166G>C	NM_015329.4	NP_056144.3:p.(Cys389Ser)	NC_000019.9:g.19456123G>C	VUS	1 lab	b8827ea996
10:82039991 MAT1A G>A	10	82039991	82039991	G	A	MAT1A	c.487C>T	NM_000429.3	NP_000420.1:p.(Arg163Trp)	NC_000010.10:g.82039991G>A	VUS	1 lab	b8852d375c
4:126384840 FAT4 G>C	4	126384840	126384840	G	C	FAT4				NC_000004.11:g.126384840G>C	(Likely) benign	1 lab	96f811488a
9:130425633 STXBP1 G>A	9	130425633	130425633	G	A	STXBP1	c.578+1G>A	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130425633G>A	(Likely) pathogenic	1 lab	b8883a1769
3:78710311 ROBO1 G>A	3	78710311	78710311	G	A	ROBO1	c.2189C>T	NM_002941.4	NP_002932.1:p.(Thr730Met)	NC_000003.11:g.78710311G>A	VUS	1 lab	b88cad2bde
16:88793190 PIEZO1 C>T	16	88793190	88793190	C	T	PIEZO1	c.3632G>A	NM_001142864.4	NP_001136336.2:p.(Arg1211His)	NC_000016.9:g.88793190C>T	VUS	1 lab	b88f625d4c
7:73470732 ELN G>A	7	73470732	73470732	G	A	ELN	c.1282G>A	NM_001278939.2	NP_001265868.1:p.(Gly428Arg)	NC_000007.13:g.73470732G>A	VUS	1 lab	b891a843d7
10:82034808 MAT1A C>G	10	82034808	82034808	C	G	MAT1A	c.916G>C	NM_000429.3	NP_000420.1:p.(Val306Leu)	NC_000010.10:g.82034808C>G	VUS	1 lab	b891f4462b
22:41572453 EP300 A>G	22	41572453	41572453	A	G	EP300	c.4982A>G	NM_001429.4	NP_001420.2:p.(Gln1661Arg)	NC_000022.10:g.41572453A>G	VUS	1 lab	b8928fb93b
10:64937515 JMJD1C C>A	10	64937515	64937515	C	A	JMJD1C	c.7186G>T	NM_032776.3	NP_116165.1:p.(Gly2396Trp)	NC_000010.10:g.64937515C>A	VUS	1 lab	b8a18508e6
9:19050394 RRAGA C>G	9	19050394	19050394	C	G	RRAGA	c.737C>G	NM_006570.5	NP_006561.1:p.(Ala246Gly)	NC_000009.11:g.19050394C>G	VUS	1 lab	b8a63acc45
1:154437719 IL6R C>T	1	154437719	154437719	C	T	IL6R	c.1270C>T	NM_000565.4	NP_000556.1:p.(Leu424Phe)	NC_000001.10:g.154437719C>T	VUS	1 lab	b8a81be061
2:200213840 SATB2 T>C	2	200213840	200213840	T	C	SATB2	c.757A>G	NM_015265.4	NP_056080.1:p.(Met253Val)	NC_000002.11:g.200213840T>C	VUS	1 lab	b8ace589bf
13:32906861 BRCA2 AT>A	13	32906861	32906864	AT	A	BRCA2	c.1249del	NM_000059.4	NP_000050.3:p.(Ser417LeufsTer13)	NC_000013.10:g.32906864del	(Likely) pathogenic	1 lab	b8ad836ec9
2:122288445 CLASP1 C>T	2	122288445	122288445	C	T	CLASP1	c.196-544G>A	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288445C>T	(Likely) benign	1 lab	b8ae5c0757
X:153008476 ABCD1 T>C	X	153008476	153008476	T	C	ABCD1	c.1816T>C	NM_000033.4	NP_000024.2:p.(Ser606Pro)	NC_000023.10:g.153008476T>C	VUS	1 lab	b8b00ff98c
3:122003353 CASR G>C	3	122003353	122003353	G	C	CASR	c.2552G>C	NM_000388.4	NP_000379.3:p.(Cys851Ser)	NC_000003.11:g.122003353G>C	VUS	1 lab	b8b1200838
6:31084714 CDSN G>A	6	31084714	31084714	G	A	CDSN	c.678C>T	NM_001264.5	NP_001255.4:p.(Pro226=)	NC_000006.11:g.31084714G>A	(Likely) benign	1 lab	b8b15c39c9
3:48624876 COL7A1 C>T	3	48624876	48624876	C	T	COL7A1	c.2969G>A	NM_000094.4	NP_000085.1:p.(Arg990Gln)	NC_000003.11:g.48624876C>T	(Likely) benign	1 lab	b8b352e381
6:91257078 MAP3K7 G>T	6	91257078	91257078	G	T	MAP3K7	c.1109C>A	NM_145331.3	NP_663304.1:p.(Ala370Asp)	NC_000006.11:g.91257078G>T	VUS	1 lab	b8ba13767d
2:233389918 PRSS56 A>G	2	233389918	233389918	A	G	PRSS56	c.1522-8A>G	NM_001195129.2	NP_001182058.1:p.?	NC_000002.11:g.233389918A>G	(Likely) benign	1 lab	b8bab1a336
18:12353018 AFG3L2 A>AG	18	12353018	12353019	A	AG	AFG3L2	c.1303dup	NM_006796.3	NP_006787.2:p.(Leu435ProfsTer8)	NC_000018.9:g.12353019dup	(Likely) pathogenic	1 lab	b8bb8fd550
X:114883790 PLS3 A>G	X	114883790	114883790	A	G	PLS3	c.1763A>G	NM_001282337.2	NP_001269266.1:p.(Tyr588Cys)	NC_000023.10:g.114883790A>G	VUS	1 lab	b8bc08a09c
14:105408009 AHNAK2 G>C	14	105408009	105408009	G	C	AHNAK2	c.13779C>G	NM_138420.4	NP_612429.2:p.(Ser4593Arg)	NC_000014.8:g.105408009G>C	VUS	1 lab	b8be9dfb09
10:95557186 LGI1 G>A	10	95557186	95557186	G	A	LGI1	c.1300G>A	NM_005097.4	NP_005088.1:p.(Ala434Thr)	NC_000010.10:g.95557186G>A	VUS	1 lab	b8c03f7b2c
19:5150448 KDM4B T>C	19	5150448	5150448	T	C	KDM4B	c.3101T>C	NM_015015.3	NP_055830.1:p.(Val1034Ala)	NC_000019.9:g.5150448T>C	VUS	1 lab	b8c452b6e5
13:32910827 BRCA2 CT>C	13	32910827	32910828	CT	C	BRCA2	c.2336del	NM_000059.4	NP_000050.3:p.(Leu779ArgfsTer4)	NC_000013.10:g.32910828del	(Likely) pathogenic	1 lab	b8c809a188
2:149226888 MBD5 G>A	2	149226888	149226888	G	A	MBD5	c.1376G>A	NM_018328.5	NP_060798.2:p.(Arg459Lys)	NC_000002.11:g.149226888G>A	VUS	1 lab	b8caf3aeed
10:112771523 SHOC2 T>C	10	112771523	112771523	T	C	SHOC2	c.1696T>C	NM_007373.4	NP_031399.2:p.(Ser566Pro)	NC_000010.10:g.112771523T>C	VUS	1 lab	b8caffe7d2
16:89167507 ACSF3 G>C	16	89167507	89167507	G	C	ACSF3	c.418G>C	NM_174917.5	NP_777577.2:p.(Asp140His)	NC_000016.9:g.89167507G>C	VUS	1 lab	b8cc5e5948
3:193372747 OPA1 T>C	3	193372747	193372747	T	C	OPA1	c.2109T>C	NM_130837.3	NP_570850.2:p.(Thr703=)	NC_000003.11:g.193372747T>C	(Likely) benign	1 lab	b8d13fee26
2:160269020 BAZ2B T>A	2	160269020	160269020	T	A	BAZ2B	c.2395A>T	NM_001289975.1	NP_001276904.1:p.(Ile799Phe)	NC_000002.11:g.160269020T>A	VUS	1 lab	b8d9fc2a99
11:66454940 SPTBN2 C>T	11	66454940	66454940	C	T	SPTBN2	c.6680G>A	NM_006946.4	NP_008877.2:p.(Arg2227His)	NC_000011.9:g.66454940C>T	VUS	1 lab	b8e0a06181
X:63425447 AMER1 TAC>T	X	63425447	63425449	TAC	T	AMER1	c.-99+1_-99+2del	NM_152424.4	NP_689637.3:p.?	NC_000023.10:g.63425448_63425449del	VUS	1 lab	b8e2696291
1:197404466 CRB1 A>G	1	197404466	197404466	A	G	CRB1	c.3473A>G	NM_201253.3	NP_957705.1:p.(Tyr1158Cys)	NC_000001.10:g.197404466A>G	VUS	1 lab	b8e44fb569
17:78293189 RNF213 A>T	17	78293189	78293189	A	T	RNF213	c.3101A>T	NM_020954.4	NP_066005.2:p.(Lys1034Met)	NC_000017.10:g.78293189A>T	(Likely) benign	1 lab	b8e4a6eb45
1:155207185 GBA1 G>A	1	155207185	155207185	G	A	GBA1	c.946C>T	NM_001005741.3	NP_001005741.1:p.(Arg316Cys)	NC_000001.10:g.155207185G>A	VUS	1 lab	b8e5173130
10:95132767 MYOF C>T	10	95132767	95132767	C	T	MYOF	c.2377G>A	NM_013451.4	NP_038479.1:p.(Ala793Thr)	NC_000010.10:g.95132767C>T	VUS	1 lab	b8e55d981b
5:40972111 C7 C>T	5	40972111	40972111	C	T	C7	c.1883-394C>T	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40972111C>T	(Likely) benign	1 lab	b8e61add70
11:108115613 ATM TAGG>T	11	108115613	108115618	TAGG	T	ATM	c.764_766del	NM_000051.4	NP_000042.3:p.(Gly255del)	NC_000011.9:g.108115616_108115618del	VUS	1 lab	b8e85fe5de
22:40069049 CACNA1I C>T	22	40069049	40069049	C	T	CACNA1I	c.4745C>T	NM_021096.4	NP_066919.2:p.(Thr1582Ile)	NC_000022.10:g.40069049C>T	VUS	1 lab	b8eaa3aa25
22:40661940 TNRC6B T>C	22	40661940	40661940	T	C	TNRC6B	c.1706T>C	NM_001162501.2	NP_001155973.1:p.(Val569Ala)	NC_000022.10:g.40661940T>C	VUS	1 lab	b8ebfebd4c
3:124414995 KALRN T>A	3	124414995	124414995	T	A	KALRN	c.7592T>A	NM_001024660.5	NP_001019831.2:p.(Ile2531Asn)	NC_000003.11:g.124414995T>A	VUS	1 lab	b8eeab7d0f
2:179642005 TTN A>G	2	179642005	179642005	A	G	TTN	c.4685T>C	NM_133378.4	NP_596869.4:p.(Leu1562Pro)	NC_000002.11:g.179642005A>G	VUS	1 lab	b8ef9e8700
22:28195685 MN1 C>A	22	28195685	28195685	C	A	MN1	c.847G>T	NM_002430.3	NP_002421.3:p.(Val283Leu)	NC_000022.10:g.28195685C>A	VUS	1 lab	b8effef265
8:38103330 DDHD2 GTCT>G	8	38103330	38103339	GTCT	G	DDHD2	c.926_928del	NM_001362912.2	NP_001349841.1:p.(Phe309del)	NC_000008.10:g.38103337_38103339del	(Likely) pathogenic	1 lab	b8f3f2a9f4
13:20797366 GJB6 G>A	13	20797366	20797366	G	A	GJB6	c.254C>T	NM_006783.5	NP_006774.2:p.(Ser85Phe)	NC_000013.10:g.20797366G>A	VUS	1 lab	b8f4eef061
X:22056649 PHEX G>T	X	22056649	22056649	G	T	PHEX	c.181G>T	NM_000444.6	NP_000435.3:p.(Glu61Ter)	NC_000023.10:g.22056649G>T	(Likely) pathogenic	1 lab	b8f6ee2c39
7:151478348 PRKAG2 C>T	7	151478348	151478348	C	T	PRKAG2	c.356G>A	NM_016203.4	NP_057287.2:p.(Arg119Gln)	NC_000007.13:g.151478348C>T	(Likely) benign	1 lab	b8fdc569a9
7:100281193 GIGYF1 G>A	7	100281193	100281193	G	A	GIGYF1	c.2032C>T	NM_001375765.1	NP_001362694.1:p.(Gln678Ter)	NC_000007.13:g.100281193G>A	VUS	1 lab	b900890116
19:13419266 CACNA1A C>T	19	13419266	13419266	C	T	CACNA1A	c.1748G>A	NM_023035.3	NP_075461.2:p.(Arg583Gln)	NC_000019.9:g.13419266C>T	(Likely) pathogenic	1 lab	b900bf876e
5:156186403 SGCD A>C	5	156186403	156186403	A	C	SGCD	c.*2A>C	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.156186403A>C	(Likely) benign	1 lab	b900efdf7c
16:87788825 KLHDC4 G>C	16	87788825	87788825	G	C	KLHDC4	c.344C>G	NM_017566.4	NP_060036.2:p.(Pro115Arg)	NC_000016.9:g.87788825G>C	VUS	1 lab	b90212789e
15:43545728 TGM5 G>A	15	43545728	43545728	G	A	TGM5	c.660C>T	NM_201631.4	NP_963925.2:p.(Tyr220=)	NC_000015.9:g.43545728G>A	(Likely) benign	1 lab	b90385a7ab
2:179417788 TTN G>A	2	179417788	179417788	G	A	TTN	c.89839C>T	NM_001267550.2	NP_001254479.2:p.(Arg29947Ter)	NC_000002.11:g.179417788G>A	(Likely) pathogenic	1 lab	b9047f559c
7:124499002 POT1 A>C	7	124499002	124499002	A	C	POT1	c.702+9T>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124499002A>C	(Likely) benign	1 lab	b913e0d36b
21:33065689 SCAF4 T>TC	21	33065689	33065690	T	TC	SCAF4	c.1430dup	NM_020706.2	NP_065757.1:p.(Ser478IlefsTer58)	NC_000021.8:g.33065690dup	(Likely) pathogenic	1 lab	b919efea81
11:108188241 ATM TC>T	11	108188241	108188243	TC	T	ATM	c.6342del	NM_000051.4	NP_000042.3:p.(Val2115SerfsTer5)	NC_000011.9:g.108188243del	(Likely) pathogenic	1 lab	b91ce74dbc
8:61763180 CHD7 G>A	8	61763180	61763180	G	A	CHD7				NC_000008.10:g.61763180G>A	VUS	1 lab	9abda989a2
2:179398638 TTN T>C	2	179398638	179398638	T	C	TTN	c.102704A>G	NM_001267550.2	NP_001254479.2:p.(Tyr34235Cys)	NC_000002.11:g.179398638T>C	VUS	1 lab	b920754cc7
2:29917777 ALK C>T	2	29917777	29917777	C	T	ALK	c.891G>A	NM_004304.5	NP_004295.2:p.(Glu297=)	NC_000002.11:g.29917777C>T	(Likely) benign	1 lab	b921e13c3d
1:236908008 ACTN2 G>A	1	236908008	236908008	G	A	ACTN2	c.1338G>A	NM_001103.4	NP_001094.1:p.(Ala446=)	NC_000001.10:g.236908008G>A	(Likely) benign	1 lab	b923f9f942
20:47634067 ARFGEF2 GA>G	20	47634067	47634068	GA	G	ARFGEF2	c.4490del	NM_006420.3	NP_006411.2:p.(Asp1497ValfsTer16)	NC_000020.10:g.47634068del	(Likely) pathogenic	1 lab	b9251fc354
17:44109071 KANSL1 T>A	17	44109071	44109071	T	A	KANSL1	c.3091-2A>T	NM_001193466.2	NP_001180395.1:p.?	NC_000017.10:g.44109071T>A	VUS	1 lab	b92721d7d2
6:83880202 PGM3 G>A	6	83880202	83880202	G	A	PGM3	c.1450-5C>T	NM_001199917.2	NP_001186846.1:p.?	NC_000006.11:g.83880202G>A	(Likely) benign	1 lab	b927582c28
2:209184980 PIKFYVE G>A	2	209184980	209184980	G	A	PIKFYVE	c.2087G>A	NM_015040.4	NP_055855.2:p.(Ser696Asn)	NC_000002.11:g.209184980G>A	(Likely) benign	1 lab	b92bf722ce
6:38897350 DNAH8 C>T	6	38897350	38897350	C	T	DNAH8	c.11182C>T	NM_001206927.2	NP_001193856.1:p.(Pro3728Ser)	NC_000006.11:g.38897350C>T	VUS	1 lab	b92e797e4f
21:45919670 TSPEAR C>T	21	45919670	45919670	C	T	TSPEAR	c.2006G>A	NM_144991.3	NP_659428.2:p.(Arg669His)	NC_000021.8:g.45919670C>T	VUS	1 lab	b932c55569
X:39933575 BCOR G>C	X	39933575	39933575	G	C	BCOR	c.1024C>G	NM_017745.6	NP_060215.4:p.(Arg342Gly)	NC_000023.10:g.39933575G>C	VUS	1 lab	b93a5494ad
3:155571735 SLC33A1 T>C	3	155571735	155571735	T	C	SLC33A1	c.52A>G	NM_004733.4	NP_004724.1:p.(Asn18Asp)	NC_000003.11:g.155571735T>C	VUS	1 lab	b93d27196f
2:179571622 TTN CAA>C	2	179571622	179571628	CAA	C	TTN	c.29099_29100del	NM_001267550.2	NP_001254479.2:p.(Phe9700CysfsTer24)	NC_000002.11:g.179571627_179571628del	VUS	1 lab	b9444102b9
2:179611943 TTN A>G	2	179611943	179611943	A	G	TTN	c.15184T>C	NM_133379.5	NP_596870.2:p.(Tyr5062His)	NC_000002.11:g.179611943A>G	VUS	1 lab	b94818597e
1:17371278 SDHB T>C	1	17371278	17371278	T	C	SDHB	c.178A>G	NM_003000.3	NP_002991.2:p.(Thr60Ala)	NC_000001.10:g.17371278T>C	VUS	1 lab	b94b356632
8:96047685 NDUFAF6 A>G	8	96047685	96047685	A	G	NDUFAF6	c.301A>G	NM_152416.4	NP_689629.2:p.(Lys101Glu)	NC_000008.10:g.96047685A>G	VUS	1 lab	b94c8cf1ff
7:127251188 PAX4 T>G	7	127251188	127251188	T	G	PAX4	c.986A>C	NM_001366110.1	NP_001353039.1:p.(His329Pro)	NC_000007.13:g.127251188T>G	(Likely) benign	1 lab	b9502cf2c1
5:70305649 NAIP Ref too long to show for this DEL>G	5	70305649	70310423	Ref too long to show for this DEL	G	NAIP	c.-3-1678_668+1452del	NM_004536.3	NP_004527.2:p.?	NC_000005.9:g.70305650_70310423del	(Likely) benign	1 lab	b95240d238
X:21896250 MBTPS2 G>A	X	21896250	21896250	G	A	MBTPS2	c.1061G>A	NM_015884.4	NP_056968.1:p.(Arg354His)	NC_000023.10:g.21896250G>A	(Likely) benign	1 lab	b953340b04
2:209212707 PIKFYVE G>A	2	209212707	209212707	G	A	PIKFYVE	c.5334G>A	NM_015040.4	NP_055855.2:p.(Thr1778=)	NC_000002.11:g.209212707G>A	(Likely) benign	1 lab	b95c1dc437
6:152631565 SYNE1 C>G	6	152631565	152631565	C	G	SYNE1	c.16772G>C	NM_033071.4	NP_149062.2:p.(Arg5591Pro)	NC_000006.11:g.152631565C>G	VUS	1 lab	b95df9fabb
22:42609589 TCF20 G>A	22	42609589	42609589	G	A	TCF20	c.1723C>T	NM_005650.4	NP_005641.1:p.(Pro575Ser)	NC_000022.10:g.42609589G>A	VUS	1 lab	b95e4e3273
12:66620538 IRAK3 A>G	12	66620538	66620538	A	G	IRAK3	c.689A>G	NM_007199.3	NP_009130.2:p.(Tyr230Cys)	NC_000012.11:g.66620538A>G	VUS	1 lab	b960a4ad04
16:50744892 NOD2 A>C	16	50744892	50744892	A	C	NOD2	c.1070A>C	NM_022162.3	NP_071445.1:p.(Asp357Ala)	NC_000016.9:g.50744892A>C	(Likely) benign	1 lab	b9645c0ba9
15:53994493 WDR72 A>G	15	53994493	53994493	A	G	WDR72	c.1407T>C	NM_182758.4	NP_877435.3:p.(Tyr469=)	NC_000015.9:g.53994493A>G	(Likely) benign	1 lab	b971138667
16:23614968 PALB2 C>G	16	23614968	23614968	C	G	PALB2	c.3373G>C	NM_024675.4	NP_078951.2:p.(Asp1125His)	NC_000016.9:g.23614968C>G	VUS	1 lab	b9723db8a1
11:26681856 ANO3 C>T	11	26681856	26681856	C	T	ANO3	c.2811C>T	NM_031418.4	NP_113606.2:p.(Asp937=)	NC_000011.9:g.26681856C>T	(Likely) benign	1 lab	b975fa5c21
14:23891477 MYH7 G>A	14	23891477	23891477	G	A	MYH7	c.3157C>T	NM_000257.4	NP_000248.2:p.(Arg1053Trp)	NC_000014.8:g.23891477G>A	(Likely) pathogenic	1 lab	b97b5e0a50
2:54858215 SPTBN1 A>T	2	54858215	54858215	A	T	SPTBN1	c.3031A>T	NM_003128.3	NP_003119.2:p.(Lys1011Ter)	NC_000002.11:g.54858215A>T	(Likely) pathogenic	1 lab	b97c4b5a17
1:9324670 H6PD A>G	1	9324670	9324670	A	G	H6PD	c.2118A>G	NM_004285.4	NP_004276.2:p.(Ser706=)	NC_000001.10:g.9324670A>G	(Likely) benign	1 lab	b97ca69a36
2:113887207 IL1RN T>C	2	113887207	113887207	T	C	IL1RN	c.69T>C	NM_173843.3	NP_776215.1:p.(Ala23=)	NC_000002.11:g.113887207T>C	(Likely) benign	1 lab	b97d05b9b5
16:30735985 SRCAP C>G	16	30735985	30735985	C	G	SRCAP	c.5240C>G	NM_006662.3	NP_006653.2:p.(Ser1747Cys)	NC_000016.9:g.30735985C>G	VUS	1 lab	b97d42b5f5
19:42777590 CIC G>A	19	42777590	42777590	G	A	CIC	c.1655G>A	NM_001304815.2	NP_001291744.1:p.(Arg552His)	NC_000019.9:g.42777590G>A	VUS	1 lab	b97ebd36c3
2:163174504 IFIH1 G>A	2	163174504	163174504	G	A	IFIH1	c.314C>T	NM_022168.4	NP_071451.2:p.(Pro105Leu)	NC_000002.11:g.163174504G>A	VUS	1 lab	b98066f95d
5:41794855 OXCT1 AAC>A	5	41794855	41794870	AAC	A	OXCT1	c.1100-6_1100-5del	NM_000436.4	NP_000427.1:p.?	NC_000005.9:g.41794869_41794870del	(Likely) benign	1 lab	b982501196
17:58734154 PPM1D A>C	17	58734154	58734154	A	C	PPM1D	c.1212A>C	NM_003620.4	NP_003611.1:p.(Gln404His)	NC_000017.10:g.58734154A>C	VUS	1 lab	b98663f952
14:23889230 MYH7 G>A	14	23889230	23889230	G	A	MYH7	c.3550C>T	NM_000257.4	NP_000248.2:p.(Gln1184Ter)	NC_000014.8:g.23889230G>A	VUS	1 lab	b98ba81511
22:19506390 CDC45 C>T	22	19506390	19506390	C	T	CDC45	c.1756C>T	NM_001178010.2	NP_001171481.1:p.(Arg586Trp)	NC_000022.10:g.19506390C>T	(Likely) pathogenic	1 lab	b98dca6058
5:55247783 IL6ST T>C	5	55247783	55247783	T	C	IL6ST	c.1673A>G	NM_002184.4	NP_002175.2:p.(Tyr558Cys)	NC_000005.9:g.55247783T>C	VUS	1 lab	b98f63661b
17:73745114 ITGB4 A>C	17	73745114	73745114	A	C	ITGB4	c.3304A>C	NM_001005731.3	NP_001005731.1:p.(Ile1102Leu)	NC_000017.10:g.73745114A>C	VUS	1 lab	b9975845dc
12:32974415 PKP2 C>T	12	32974415	32974415	C	T	PKP2	c.2020G>A	NM_004572.4	NP_004563.2:p.(Val674Met)	NC_000012.11:g.32974415C>T	(Likely) benign	1 lab	b999baffd5
15:25200203 SNRPN G>A	15	25200203	25200203	G	A	SNRPN	c.-397G>A	NM_003097.6	NP_003088.1:p.?	NC_000015.9:g.25200203G>A	VUS	1 lab	b99a522b90
18:32374083 DTNA C>T	18	32374083	32374083	C	T	DTNA	c.231C>T	NM_001198939.2	NP_001185868.1:p.(Asn77=)	NC_000018.9:g.32374083C>T	(Likely) benign	1 lab	b9a729ba52
9:6553379 GLDC C>T	9	6553379	6553379	C	T	GLDC	c.2446G>A	NM_000170.3	NP_000161.2:p.(Ala816Thr)	NC_000009.11:g.6553379C>T	VUS	1 lab	b9a8d5a0d8
2:113819721 IL36RN C>T	2	113819721	113819721	C	T	IL36RN	c.136C>T	NM_012275.3	NP_036407.1:p.(Pro46Ser)	NC_000002.11:g.113819721C>T	VUS	1 lab	b9abf76145
10:95076472 MYOF C>G	10	95076472	95076472	C	G	MYOF	c.5697G>C	NM_013451.4	NP_038479.1:p.(Leu1899Phe)	NC_000010.10:g.95076472C>G	(Likely) benign	1 lab	b9aed45575
18:21437931 LAMA3 G>C	18	21437931	21437931	G	C	LAMA3	c.4260G>C	NM_198129.4	NP_937762.2:p.(Gly1420=)	NC_000018.9:g.21437931G>C	(Likely) benign	1 lab	b9b6140bec
17:35696820 ACACA AAAAG>A	17	35696820	35696825	AAAAG	A	ACACA	c.-73-14_-73-11del	NM_198839.3	NP_942136.1:p.?	NC_000017.10:g.35696822_35696825del	(Likely) benign	1 lab	b9b6da66bf
19:18900027 COMP C>A	19	18900027	18900027	C	A	COMP	c.470G>T	NM_000095.3	NP_000086.2:p.(Gly157Val)	NC_000019.9:g.18900027C>A	VUS	1 lab	b9b9958bf9
17:39919510 JUP G>A	17	39919510	39919510	G	A	JUP	c.1222C>T	NM_002230.4	NP_002221.1:p.(Leu408Phe)	NC_000017.10:g.39919510G>A	VUS	1 lab	b9c0c5d32c
14:88390366 MISSING 88423039>DEL	14	88390366	88423039	88423039	DEL	MISSING				NC_000014.8:g.88390366_88423039del	(Likely) pathogenic	1 lab	b9c1dc58cb
2:69408927 ANTXR1 G>T	2	69408927	69408927	G	T	ANTXR1	c.1099G>T	NM_032208.3	NP_115584.1:p.(Asp367Tyr)	NC_000002.11:g.69408927G>T	VUS	1 lab	b9c29d0958
2:9633031 ADAM17 C>T	2	9633031	9633031	C	T	ADAM17	c.2078G>A	NM_003183.6	NP_003174.3:p.(Cys693Tyr)	NC_000002.11:g.9633031C>T	VUS	1 lab	b9c369b941
17:61562309 ACE C>T	17	61562309	61562309	C	T	ACE	c.81C>T	NM_152830.3	NP_690043.1:p.(Pro27=)	NC_000017.10:g.61562309C>T	(Likely) benign	1 lab	b9c8886490
6:79679577 PHIP A>G	6	79679577	79679577	A	G	PHIP	c.3180T>C	NM_017934.7	NP_060404.4:p.(Asp1060=)	NC_000006.11:g.79679577A>G	(Likely) benign	1 lab	b9c9c567b6
X:47307298 ZNF41 G>A	X	47307298	47307298	G	A	ZNF41	c.1871C>T	NM_153380.3	NP_700359.1:p.(Ala624Val)	NC_000023.10:g.47307298G>A	VUS	1 lab	b9ce6dd2a0
16:30749045 SRCAP G>T	16	30749045	30749045	G	T	SRCAP	c.7684G>T	NM_006662.3	NP_006653.2:p.(Glu2562Ter)	NC_000016.9:g.30749045G>T	(Likely) pathogenic	1 lab	b9cf98624a
10:69407233 CTNNA3 AG>A	10	69407233	69407235	AG	A	CTNNA3	c.38del	NM_013266.4	NP_037398.2:p.(Pro13LeufsTer19)	NC_000010.10:g.69407235del	VUS	1 lab	b9d27337c1
X:138729057 MCF2 G>A	X	138729057	138729057	G	A	MCF2	c.31C>T	NM_001171876.2	NP_001165347.1:p.(Arg11Trp)	NC_000023.10:g.138729057G>A	(Likely) pathogenic	1 lab	b9d8067ac6
8:61765241 CHD7 C>G	8	61765241	61765241	C	G	CHD7				NC_000008.10:g.61765241C>G	(Likely) benign	1 lab	028c6ac5fd
13:52585445 ATP7B G>A	13	52585445	52585445	G	A	ATP7B	c.29C>T	NM_000053.4	NP_000044.2:p.(Ala10Val)	NC_000013.10:g.52585445G>A	(Likely) benign	1 lab	b9e32fcff8
2:179463455 TTN G>GA	2	179463455	179463456	G	GA	TTN	c.56962+19_56962+20insT	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463455_179463456insA	(Likely) benign	1 lab	b9e4fab0d1
X:49050679 SYP C>T	X	49050679	49050679	C	T	SYP	c.367G>A	NM_003179.3	NP_003170.1:p.(Ala123Thr)	NC_000023.10:g.49050679C>T	VUS	1 lab	b9e64b21f4
4:114278997 ANK2 T>A	4	114278997	114278997	T	A	ANK2	c.9223T>A	NM_001148.6	NP_001139.3:p.(Ser3075Thr)	NC_000004.11:g.114278997T>A	VUS	1 lab	ba004ef136
12:110765676 ATP2A2 A>G	12	110765676	110765676	A	G	ATP2A2	c.949A>G	NM_001681.4	NP_001672.1:p.(Thr317Ala)	NC_000012.11:g.110765676A>G	VUS	1 lab	ba0082bdcf
6:70410694 LMBRD1 C>A	6	70410694	70410694	C	A	LMBRD1	c.1151G>T	NM_018368.4	NP_060838.3:p.(Gly384Val)	NC_000006.11:g.70410694C>A	VUS	1 lab	ba02381b00
16:50750502 NOD2 C>T	16	50750502	50750502	C	T	NOD2	c.2467C>T	NM_022162.3	NP_071445.1:p.(Arg823Cys)	NC_000016.9:g.50750502C>T	VUS	1 lab	ba03e7abab
19:42777469 CIC A>G	19	42777469	42777469	A	G	CIC	c.1534A>G	NM_001304815.2	NP_001291744.1:p.(Met512Val)	NC_000019.9:g.42777469A>G	VUS	1 lab	ba09769c63
5:65370936 ERBIN G>A	5	65370936	65370936	G	A	ERBIN	c.3841G>A	NM_001253697.2	NP_001240626.1:p.(Val1281Met)	NC_000005.9:g.65370936G>A	(Likely) benign	1 lab	ba0bdc7b76
17:39659272 KRT13 G>A	17	39659272	39659272	G	A	KRT13	c.814C>T	NM_002274.4	NP_002265.3:p.(Arg272Cys)	NC_000017.10:g.39659272G>A	VUS	1 lab	ba0da39b6e
2:179440180 TTN C>T	2	179440180	179440180	C	T	TTN	c.70679G>A	NM_001267550.2	NP_001254479.2:p.(Gly23560Asp)	NC_000002.11:g.179440180C>T	VUS	1 lab	ba0f41b77a
4:113303560 ALPK1 T>C	4	113303560	113303560	T	C	ALPK1	c.128T>C	NM_025144.4	NP_079420.3:p.(Leu43Pro)	NC_000004.11:g.113303560T>C	VUS	1 lab	ba12f1bf60
12:10271055 CLEC7A T>C	12	10271055	10271055	T	C	CLEC7A	c.*2A>G	NM_197947.3	NP_922938.1:p.?	NC_000012.11:g.10271055T>C	(Likely) benign	1 lab	ba135542c1
7:151864256 KMT2C C>T	7	151864256	151864256	C	T	KMT2C	c.9725G>A	NM_170606.3	NP_733751.2:p.(Ser3242Asn)	NC_000007.13:g.151864256C>T	VUS	1 lab	ba176930c4
21:44837529 SIK1 C>T	21	44837529	44837529	C	T	SIK1	c.1870G>A	NM_173354.5	NP_775490.2:p.(Gly624Ser)	NC_000021.8:g.44837529C>T	(Likely) benign	1 lab	ba183fe4da
12:6703726 CHD4 G>A	12	6703726	6703726	G	A	CHD4	c.2212C>T	NM_001273.5	NP_001264.2:p.(Arg738Cys)	NC_000012.11:g.6703726G>A	VUS	1 lab	ba18fa814d
13:20600893 ZMYM2 A>G	13	20600893	20600893	A	G	ZMYM2	c.1726A>G	NM_003453.6	NP_003444.1:p.(Lys576Glu)	NC_000013.10:g.20600893A>G	(Likely) benign	1 lab	ba1ba57807
3:41266080 CTNNB1 A>G	3	41266080	41266080	A	G	CTNNB1	c.77A>G	NM_001904.4	NP_001895.1:p.(Gln26Arg)	NC_000003.11:g.41266080A>G	VUS	1 lab	ba1caca235
16:89805977 FANCA G>A	16	89805977	89805977	G	A	FANCA	c.3935-16C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805977G>A	(Likely) benign	1 lab	ba2928f498
1:160011231 KCNJ10 T>C	1	160011231	160011231	T	C	KCNJ10	c.1092A>G	NM_002241.5	NP_002232.2:p.(Gln364=)	NC_000001.10:g.160011231T>C	(Likely) benign	1 lab	ba29968e44
12:88457886 CEP290 C>G	12	88457886	88457886	C	G	CEP290	c.6142G>C	NM_025114.4	NP_079390.3:p.(Gly2048Arg)	NC_000012.11:g.88457886C>G	VUS	1 lab	ba29f720db
16:70972595 HYDIN T>C	16	70972595	70972595	T	C	HYDIN	c.6917A>G	NM_001270974.2	NP_001257903.1:p.(Glu2306Gly)	NC_000016.9:g.70972595T>C	(Likely) benign	1 lab	ba2ed4e676
3:48629592 COL7A1 C>T	3	48629592	48629592	C	T	COL7A1	c.1183G>A	NM_000094.4	NP_000085.1:p.(Val395Met)	NC_000003.11:g.48629592C>T	(Likely) benign	1 lab	ba30aeeee4
9:139089488 LHX3 A>T	9	139089488	139089488	A	T	LHX3	c.892T>A	NM_014564.5	NP_055379.1:p.(Phe298Ile)	NC_000009.11:g.139089488A>T	VUS	1 lab	ba39cfa9b7
3:133119415 BFSP2 AG>A	3	133119415	133119417	AG	A	BFSP2	c.489+1del	NM_003571.4	NP_003562.1:p.?	NC_000003.11:g.133119417del	(Likely) pathogenic	1 lab	ba43db285d
2:230656684 TRIP12 A>ACTGC	2	230656684	230656691	A	ACTGC	TRIP12	c.4228_4231dup	NM_001284214.2	NP_001271143.1:p.(Val1411GlyfsTer6)	NC_000002.11:g.230656688_230656691dup	(Likely) pathogenic	1 lab	ba48b8ac25
2:179501287 TTN C>T	2	179501287	179501287	C	T	TTN	c.41167G>A	NM_001267550.2	NP_001254479.2:p.(Gly13723Ser)	NC_000002.11:g.179501287C>T	VUS	1 lab	ba48bacf08
13:32910488 BRCA2 A>ACAT	13	32910488	32910489	A	ACAT	BRCA2	c.1996_1997insCAT	NM_000059.4	NP_000050.3:p.(Ile666delinsThrPhe)	NC_000013.10:g.32910488_32910489insCAT	VUS	1 lab	ba4eb0120e
2:176046078 ATP5MC3 C>T	2	176046078	176046078	C	T	ATP5MC3	c.39+5G>A	NM_001689.5	NP_001680.1:p.?	NC_000002.11:g.176046078C>T	VUS	1 lab	ba53be4e36
16:89350753 ANKRD11 G>A	16	89350753	89350753	G	A	ANKRD11	c.2197C>T	NM_001256182.2	NP_001243111.1:p.(Arg733Ter)	NC_000016.9:g.89350753G>A	(Likely) pathogenic	1 lab	ba54ad1a87
2:179463893 TTN T>C	2	179463893	179463893	T	C	TTN	c.56627A>G	NM_001267550.2	NP_001254479.2:p.(Glu18876Gly)	NC_000002.11:g.179463893T>C	VUS	1 lab	ba55f70a58
14:23855685 MYH6 G>A	14	23855685	23855685	G	A	MYH6	c.4798C>T	NM_002471.4	NP_002462.2:p.(Gln1600Ter)	NC_000014.8:g.23855685G>A	VUS	1 lab	ba574315c5
13:111082748 COL4A2 G>A	13	111082748	111082748	G	A	COL4A2	c.550G>A	NM_001846.4	NP_001837.2:p.(Gly184Ser)	NC_000013.10:g.111082748G>A	VUS	1 lab	ba589c1f2b
6:7579907 DSP AAAGCCATC>A	6	7579907	7579918	AAAGCCATC	A	DSP	c.3488_3495del	NM_004415.4	NP_004406.2:p.(Ala1163GlyfsTer7)	NC_000006.11:g.7579911_7579918del	(Likely) pathogenic	1 lab	ba5df01c25
12:46246146 ARID2 A>G	12	46246146	46246146	A	G	ARID2	c.4240A>G	NM_152641.4	NP_689854.2:p.(Arg1414Gly)	NC_000012.11:g.46246146A>G	VUS	1 lab	ba6250dda7
13:32900703 BRCA2 C>G	13	32900703	32900703	C	G	BRCA2	c.584C>G	NM_000059.4	NP_000050.3:p.(Ser195Ter)	NC_000013.10:g.32900703C>G	(Likely) pathogenic	1 lab	ba6313658e
16:29825242 PRRT2 T>A	16	29825242	29825242	T	A	PRRT2	c.867T>A	NM_001256443.2	NP_001243372.1:p.(Ala289=)	NC_000016.9:g.29825242T>A	(Likely) benign	1 lab	ba63a2aba9
12:4794470 NDUFA9 A>G	12	4794470	4794470	A	G	NDUFA9	c.942A>G	NM_005002.5	NP_004993.1:p.(Ile314Met)	NC_000012.11:g.4794470A>G	(Likely) benign	1 lab	d9ed4e9f74
16:1823027 EME2 G>A	16	1823027	1823027	G	A	EME2	c.-202G>A	NM_001257370.2	NP_001244299.1:p.?	NC_000016.9:g.1823027G>A	(Likely) pathogenic	1 lab	e594282715
22:19929250 TXNRD2 A>ACCCCGCC	22	19929250	19929258	A	ACCCCGCC	TXNRD2	c.70_76dup	NM_006440.5	NP_006431.2:p.(Val26_Lys158delinsGlyArgGlyAlaGlyArgGlyAlaGlyArgSerSerArgSerAlaGlyLeuTerSerProGlyGlyArgArgGlyIleTrpTrpProGlyLeuCysGlnGlyGlyArgProAlaGlyLysGluGlyGlyArgGlyGlyLeuArgGlyThrPheSerProArgHisProValGlyProArgArgHisLeuArgGlnArgGlyLeuHisProGlnGluAlaAspAlaProGlyGlyThrAlaGlyArgProAspProArgCysProGlnLeuTrpLeuGlyGlyGlyProAlaArgAlaAlaTerLeuGluGluAspGlyArgSerCysSerLysSerArgGluIleLeuGluLeuGlyProProCysProAlaSerGlyGlnLysSerGlnValLeuTer)	NC_000022.10:g.19929252_19929258dup	VUS	1 lab	ba63ee3e32
19:42776246 CIC CCTCA>C	19	42776246	42776254	CCTCA	C	CIC	c.316_319del	NM_001304815.2	NP_001291744.1:p.(Leu106AlafsTer134)	NC_000019.9:g.42776251_42776254del	(Likely) pathogenic	1 lab	ba65be65b1
X:123195627 STAG2 CAGAT>C	X	123195627	123195633	CAGAT	C	STAG2	c.1544_1547del	NM_001042749.2	NP_001036214.1:p.(Asp515GlyfsTer6)	NC_000023.10:g.123195630_123195633del	(Likely) pathogenic	1 lab	ba6b43a75d
12:122079441 ORAI1 T>C	12	122079441	122079441	T	C	ORAI1	c.798T>C	NM_032790.3	NP_116179.2:p.(Thr266=)	NC_000012.11:g.122079441T>C	(Likely) benign	1 lab	ba6e9f84f8
15:43527100 TGM5 T>C	15	43527100	43527100	T	C	TGM5	c.1742A>G	NM_201631.4	NP_963925.2:p.(Tyr581Cys)	NC_000015.9:g.43527100T>C	VUS	1 lab	ba755e383c
17:44248875 KANSL1 T>C	17	44248875	44248875	T	C	KANSL1	c.635A>G	NM_001193466.2	NP_001180395.1:p.(His212Arg)	NC_000017.10:g.44248875T>C	(Likely) benign	1 lab	ba80d7b277
17:41246594 BRCA1 A>C	17	41246594	41246594	A	C	BRCA1	c.954T>G	NM_007294.4	NP_009225.1:p.(His318Gln)	NC_000017.10:g.41246594A>C	VUS	1 lab	ba88ac7316
22:21346027 LZTR1 G>T	22	21346027	21346027	G	T	LZTR1	c.902G>T	NM_006767.4	NP_006758.2:p.(Gly301Val)	NC_000022.10:g.21346027G>T	(Likely) pathogenic	1 lab	ba8b64abf7
15:28517432 HERC2 A>C	15	28517432	28517432	A	C	HERC2	c.1012T>G	NM_004667.6	NP_004658.3:p.(Leu338Val)	NC_000015.9:g.28517432A>C	(Likely) benign	1 lab	ba8dd94e4b
19:17768910 UNC13A A>T	19	17768910	17768910	A	T	UNC13A	c.728T>A	NM_001080421.3	NP_001073890.2:p.(Met243Lys)	NC_000019.9:g.17768910A>T	VUS	1 lab	ba9fce012d
18:21114473 NPC1 C>T	18	21114473	21114473	C	T	NPC1	c.3528G>A	NM_000271.5	NP_000262.2:p.(Thr1176=)	NC_000018.9:g.21114473C>T	(Likely) benign	1 lab	baa404731a
X:41055958 USP9X C>A	X	41055958	41055958	C	A	USP9X	c.4200C>A	NM_001039590.3	NP_001034679.2:p.(Leu1400=)	NC_000023.10:g.41055958C>A	(Likely) benign	1 lab	baa493ad4b
10:64960339 JMJD1C C>T	10	64960339	64960339	C	T	JMJD1C	c.5173G>A	NM_032776.3	NP_116165.1:p.(Gly1725Arg)	NC_000010.10:g.64960339C>T	VUS	1 lab	bac46e54cc
16:75589886 TMEM231 G>A	16	75589886	75589886	G	A	TMEM231	c.284C>T	NM_001077416.2	NP_001070884.2:p.(Ala95Val)	NC_000016.9:g.75589886G>A	VUS	1 lab	bac4d0e21d
17:39742624 KRT14 G>A	17	39742624	39742624	G	A	KRT14	c.463C>T	NM_000526.5	NP_000517.3:p.(Arg155Trp)	NC_000017.10:g.39742624G>A	(Likely) benign	1 lab	bac5cad19a
2:9661394 ADAM17 T>G	2	9661394	9661394	T	G	ADAM17	c.895A>C	NM_003183.6	NP_003174.3:p.(Asn299His)	NC_000002.11:g.9661394T>G	VUS	1 lab	bac7657751
2:166187980 SCN2A GC>G	2	166187980	166187982	GC	G	SCN2A	c.2292del	NM_021007.3	NP_066287.2:p.(Ile765SerfsTer7)	NC_000002.11:g.166187982del	(Likely) pathogenic	1 lab	bac8b63476
6:112430746 LAMA4 AAGGGT>A	6	112430746	112430751	AAGGGT	A	LAMA4	c.5361_5365del	NM_001105206.3	NP_001098676.2:p.(Lys1787AsnfsTer11)	NC_000006.11:g.112430747_112430751del	VUS	1 lab	baceae6dd1
1:12353626 VPS13D C>T	1	12353626	12353626	C	T	VPS13D	c.5898C>T	NM_015378.4	NP_056193.2:p.(Arg1966=)	NC_000001.10:g.12353626C>T	(Likely) benign	1 lab	bacfaf58ac
6:32782387 HLA-DOB G>A	6	32782387	32782387	G	A	HLA-DOB	c.362-9C>T	NM_002120.4	NP_002111.1:p.?	NC_000006.11:g.32782387G>A	(Likely) benign	1 lab	bad4ea8d9b
10:78734251 KCNMA1 C>T	10	78734251	78734251	C	T	KCNMA1	c.1633G>A	NM_001322838.2	NP_001309767.1:p.(Glu545Lys)	NC_000010.10:g.78734251C>T	VUS	1 lab	bad593a9a9
7:55238874 EGFR T>A	7	55238874	55238874	T	A	EGFR	c.1887T>A	NM_005228.5	NP_005219.2:p.(Thr629=)	NC_000007.13:g.55238874T>A	(Likely) benign	1 lab	bad6746140
4:85664903 WDFY3 TA>T	4	85664903	85664905	TA	T	WDFY3	c.6022del	NM_014991.6	NP_055806.2:p.(Tyr2008ThrfsTer6)	NC_000004.11:g.85664905del	VUS	1 lab	bad780fb27
7:128494165 FLNC G>A	7	128494165	128494165	G	A	FLNC	c.6622G>A	NM_001458.5	NP_001449.3:p.(Glu2208Lys)	NC_000007.13:g.128494165G>A	VUS	1 lab	badd862cb4
7:87092080 ABCB4 A>G	7	87092080	87092080	A	G	ABCB4	c.280T>C	NM_000443.4	NP_000434.1:p.(Phe94Leu)	NC_000007.13:g.87092080A>G	VUS	1 lab	badfd2f185
5:176673689 NSD1 G>C	5	176673689	176673689	G	C	NSD1	c.4389G>C	NM_022455.5	NP_071900.2:p.(Lys1463Asn)	NC_000005.9:g.176673689G>C	VUS	1 lab	bae68c3a23
16:4882030 GLYR1 C>T	16	4882030	4882030	C	T	GLYR1	c.487G>A	NM_032569.4	NP_115958.2:p.(Ala163Thr)	NC_000016.9:g.4882030C>T	VUS	1 lab	bae7f8c516
1:236902621 ACTN2 G>A	1	236902621	236902621	G	A	ACTN2	c.896G>A	NM_001103.4	NP_001094.1:p.(Arg299His)	NC_000001.10:g.236902621G>A	VUS	1 lab	bae914259d
22:36691665 MYH9 C>T	22	36691665	36691665	C	T	MYH9	c.3371G>A	NM_002473.6	NP_002464.1:p.(Arg1124His)	NC_000022.10:g.36691665C>T	VUS	1 lab	baed44f1d7
1:153789846 GATAD2B AC>A	1	153789846	153789848	AC	A	GATAD2B	c.900+1del	NM_020699.4	NP_065750.1:p.?	NC_000001.10:g.153789848del	(Likely) pathogenic	1 lab	baef873938
11:112100954 PTS G>GT	11	112100954	112100955	G	GT	PTS	c.186+2dup	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112100955dup	(Likely) pathogenic	1 lab	baefa2eba9
12:49433404 KMT2D T>C	12	49433404	49433404	T	C	KMT2D	c.8047-4A>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49433404T>C	(Likely) benign	1 lab	baf194b00e
X:49105176 CCDC22 A>G	X	49105176	49105176	A	G	CCDC22	c.1412A>G	NM_014008.5	NP_054727.1:p.(Glu471Gly)	NC_000023.10:g.49105176A>G	(Likely) benign	1 lab	baf1d5fc68
6:72889472 RIMS1 A>G	6	72889472	72889472	A	G	RIMS1	c.666A>G	NM_014989.6	NP_055804.2:p.(Leu222=)	NC_000006.11:g.72889472A>G	(Likely) benign	1 lab	baf4776822
2:179481761 TTN T>G	2	179481761	179481761	T	G	TTN	c.47876-21A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481761T>G	(Likely) benign	1 lab	baf685efdf
1:154558759 ADAR T>C	1	154558759	154558759	T	C	ADAR	c.3100A>G	NM_001111.5	NP_001102.3:p.(Met1034Val)	NC_000001.10:g.154558759T>C	VUS	1 lab	baf7ec266f
16:14645907 PARN G>A	16	14645907	14645907	G	A	PARN	c.1451C>T	NM_002582.4	NP_002573.1:p.(Ser484Phe)	NC_000016.9:g.14645907G>A	VUS	1 lab	bafd7a61e9
19:16606607 CALR3 T>TA	19	16606607	16606611	T	TA	CALR3	c.147dup	NM_145046.5	NP_659483.2:p.(Arg50Ter)	NC_000019.9:g.16606611dup	VUS	1 lab	bb0d5ad215
2:21228963 APOB G>A	2	21228963	21228963	G	A	APOB	c.10777C>T	NM_000384.3	NP_000375.3:p.(Pro3593Ser)	NC_000002.11:g.21228963G>A	VUS	1 lab	bb153840ab
2:228762983 DAW1 C>A	2	228762983	228762983	C	A	DAW1	c.526C>A	NM_178821.3	NP_849143.1:p.(His176Asn)	NC_000002.11:g.228762983C>A	VUS	1 lab	bb15ce2a2f
9:80932574 PSAT1 T>A	9	80932574	80932574	T	A	PSAT1	c.741-18T>A	NM_058179.4	NP_478059.1:p.?	NC_000009.11:g.80932574T>A	(Likely) benign	1 lab	bb173bd590
1:210856848 KCNH1 G>T	1	210856848	210856848	G	T	KCNH1	c.2745C>A	NM_172362.3	NP_758872.1:p.(Tyr915Ter)	NC_000001.10:g.210856848G>T	VUS	1 lab	bb1a0f1ff1
7:73100975 BUD23 G>A	7	73100975	73100975	G	A	BUD23	c.96G>A	NM_001202560.3	NP_001189489.1:p.(Met32Ile)	NC_000007.13:g.73100975G>A	(Likely) benign	1 lab	bb1d0044b4
10:89653858 PTEN TGTA>T	10	89653858	89653864	TGTA	T	PTEN	c.160_162del	NM_000314.8	NP_000305.3:p.(Val54del)	NC_000010.10:g.89653862_89653864del	(Likely) pathogenic	1 lab	bb218e04f6
5:150696540 SLC36A2 C>T	5	150696540	150696540	C	T	SLC36A2	c.1290G>A	NM_181776.3	NP_861441.2:p.(Thr430=)	NC_000005.9:g.150696540C>T	(Likely) benign	1 lab	bb25085c00
9:98229389 PTCH1 C>G	9	98229389	98229389	C	G	PTCH1	c.2362+9G>C	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98229389C>G	(Likely) benign	1 lab	bb2b8e737e
3:41266667 CTNNB1 A>G	3	41266667	41266667	A	G	CTNNB1	c.464A>G	NM_001904.4	NP_001895.1:p.(Glu155Gly)	NC_000003.11:g.41266667A>G	VUS	1 lab	bb2db42f73
X:46521460 SLC9A7 C>G	X	46521460	46521460	C	G	SLC9A7	c.1029+3G>C	NM_032591.3	NP_115980.1:p.?	NC_000023.10:g.46521460C>G	(Likely) benign	1 lab	bb32929e40
7:72987240 TBL2 T>C	7	72987240	72987240	T	C	TBL2	c.560A>G	NM_001362660.2	NP_001349589.1:p.(Gln187Arg)	NC_000007.13:g.72987240T>C	VUS	1 lab	bb329d7882
19:4517608 PLIN4 T>TG	19	4517608	4517612	T	TG	PLIN4	c.153dup	NM_001367868.2	NP_001354797.1:p.(Thr52HisfsTer67)	NC_000019.9:g.4517612dup	VUS	1 lab	bb36d5fe03
14:64467305 SYNE2 G>A	14	64467305	64467305	G	A	SYNE2	c.3506G>A	NM_182914.3	NP_878918.2:p.(Arg1169His)	NC_000014.8:g.64467305G>A	(Likely) benign	1 lab	bb36df4f12
7:94259027 SGCE A>G	7	94259027	94259027	A	G	SGCE	c.232+4T>C	NM_001099401.2	NP_001092871.1:p.?	NC_000007.13:g.94259027A>G	(Likely) benign	1 lab	bb382c6f6c
17:26107923 NOS2 C>T	17	26107923	26107923	C	T	NOS2	c.874G>A	NM_000625.4	NP_000616.3:p.(Asp292Asn)	NC_000017.10:g.26107923C>T	VUS	1 lab	bb3a0ec9e3
15:95019993 MCTP2 C>T	15	95019993	95019993	C	T	MCTP2	c.2539C>T	NM_018349.4	NP_060819.3:p.(Leu847Phe)	NC_000015.9:g.95019993C>T	VUS	1 lab	bb3bcaacf5
2:63631515 WDPCP C>T	2	63631515	63631515	C	T	WDPCP	c.1103G>A	NM_015910.7	NP_056994.3:p.(Arg368His)	NC_000002.11:g.63631515C>T	VUS	1 lab	bb3e3dcb54
X:107819174 COL4A5 T>C	X	107819174	107819174	T	C	COL4A5	c.581T>C	NM_000495.5	NP_000486.1:p.(Ile194Thr)	NC_000023.10:g.107819174T>C	VUS	1 lab	bb40619e07
4:169846359 PALLD GCT>G	4	169846359	169846371	GCT	G	PALLD	c.3359-14_3359-13del	NM_001166108.2	NP_001159580.1:p.?	NC_000004.11:g.169846370_169846371del	(Likely) benign	1 lab	bb41819a75
1:3347521 PRDM16 G>T	1	3347521	3347521	G	T	PRDM16	c.3370G>T	NM_022114.4	NP_071397.3:p.(Asp1124Tyr)	NC_000001.10:g.3347521G>T	VUS	1 lab	bb458c342b
2:203421083 BMPR2 C>T	2	203421083	203421083	C	T	BMPR2	c.2695C>T	NM_001204.7	NP_001195.2:p.(Arg899Ter)	NC_000002.11:g.203421083C>T	(Likely) pathogenic	1 lab	bb4c19132b
1:65325902 JAK1 G>A	1	65325902	65325902	G	A	JAK1	c.1220C>T	NM_001321853.2	NP_001308782.1:p.(Ser407Phe)	NC_000001.10:g.65325902G>A	VUS	1 lab	bb521e26f4
15:44944397 SPG11 C>T	15	44944397	44944397	C	T	SPG11	c.937G>A	NM_025137.4	NP_079413.3:p.(Val313Ile)	NC_000015.9:g.44944397C>T	VUS	1 lab	bb5c03c968
4:88928946 PKD2 C>T	4	88928946	88928946	C	T	PKD2	c.61C>T	NM_000297.4	NP_000288.1:p.(Pro21Ser)	NC_000004.11:g.88928946C>T	VUS	1 lab	bb5e6ff2f8
22:51063871 ARSA G>A	22	51063871	51063871	G	A	ARSA	c.1232C>T	NM_000487.6	NP_000478.3:p.(Thr411Ile)	NC_000022.10:g.51063871G>A	(Likely) pathogenic	1 lab	bb5e954754
2:238443226 MLPH A>G	2	238443226	238443226	A	G	MLPH	c.1040A>G	NM_024101.7	NP_077006.1:p.(His347Arg)	NC_000002.11:g.238443226A>G	(Likely) benign	1 lab	bb62b84c85
20:2447977 SNRPB G>A	20	2447977	2447977	G	A	SNRPB	c.155+276C>T	NM_003091.4	NP_003082.1:p.?	NC_000020.10:g.2447977G>A	(Likely) benign	1 lab	bb63393beb
X:153580023 FLNA G>A	X	153580023	153580023	G	A	FLNA	c.6925C>T	NM_001456.4	NP_001447.2:p.(Pro2309Ser)	NC_000023.10:g.153580023G>A	VUS	1 lab	bb63e56ea3
11:118182886 CD3E G>A	11	118182886	118182886	G	A	CD3E	c.103+1G>A	NM_000733.4	NP_000724.1:p.?	NC_000011.9:g.118182886G>A	VUS	1 lab	bb6c97c8c4
1:181689970 MISSING A>G	1	181689970	181689970	A	G	MISSING				NC_000001.10:g.181689970A>G	(Likely) benign	1 lab	09aa0e2215
19:54310810 NLRP12 G>A	19	54310810	54310810	G	A	NLRP12	c.2182C>T	NM_144687.4	NP_653288.1:p.(Arg728Trp)	NC_000019.9:g.54310810G>A	VUS	1 lab	bb788a658d
19:54392941 PRKCG CCTT>C	19	54392941	54392946	CCTT	C	PRKCG	c.338_340del	NM_002739.5	NP_002730.1:p.(Phe113del)	NC_000019.9:g.54392944_54392946del	VUS	1 lab	bb7bb67751
1:21900274 ALPL T>C	1	21900274	21900274	T	C	ALPL	c.979T>C	NM_000478.6	NP_000469.3:p.(Phe327Leu)	NC_000001.10:g.21900274T>C	(Likely) pathogenic	1 lab	bb81329826
19:8468419 RAB11B C>A	19	8468419	8468419	C	A	RAB11B	c.634C>A	NM_004218.4	NP_004209.2:p.(Leu212Met)	NC_000019.9:g.8468419C>A	VUS	1 lab	bb81b5f156
17:61574492 ACE G>A	17	61574492	61574492	G	A	ACE	c.3692-6G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61574492G>A	(Likely) benign	1 lab	bb83bda120
11:35338990 SLC1A2 G>A	11	35338990	35338990	G	A	SLC1A2	c.91C>T	NM_004171.4	NP_004162.2:p.(Arg31Trp)	NC_000011.9:g.35338990G>A	VUS	1 lab	bb8d4ef61f
1:152281550 FLG C>T	1	152281550	152281550	C	T	FLG	c.5812G>A	NM_002016.2	NP_002007.1:p.(Ala1938Thr)	NC_000001.10:g.152281550C>T	VUS	1 lab	bb8e51bee4
12:24048725 SOX5 AC>A	12	24048725	24048727	AC	A	SOX5	c.231+1del	NM_152989.5	NP_694534.1:p.?	NC_000012.11:g.24048727del	(Likely) pathogenic	1 lab	bb8f92be53
12:56236136 MMP19 C>T	12	56236136	56236136	C	T	MMP19	c.173+1G>A	NM_002429.6	NP_002420.1:p.?	NC_000012.11:g.56236136C>T	VUS	1 lab	bb9a3dd513
3:123452599 MYLK T>C	3	123452599	123452599	T	C	MYLK	c.1244A>G	NM_053025.4	NP_444253.3:p.(Lys415Arg)	NC_000003.11:g.123452599T>C	VUS	1 lab	bba04a0476
2:138771456 HNMT G>A	2	138771456	138771456	G	A	HNMT	c.635G>A	NM_006895.3	NP_008826.1:p.(Gly212Glu)	NC_000002.11:g.138771456G>A	VUS	1 lab	bba47570f1
16:23641239 PALB2 CT>C	16	23641239	23641244	CT	C	PALB2	c.2235del	NM_024675.4	NP_078951.2:p.(Ala746HisfsTer18)	NC_000016.9:g.23641244del	(Likely) pathogenic	1 lab	bba4d57362
10:112541293 RBM20 G>A	10	112541293	112541293	G	A	RBM20	c.926G>A	NM_001134363.3	NP_001127835.2:p.(Gly309Glu)	NC_000010.10:g.112541293G>A	(Likely) benign	1 lab	bbaa7f86b0
14:99642435 BCL11B G>C	14	99642435	99642435	G	C	BCL11B	c.738C>G	NM_138576.4	NP_612808.1:p.(Phe246Leu)	NC_000014.8:g.99642435G>C	VUS	1 lab	bbabff3500
6:29910604 HLA-A C>A	6	29910604	29910604	C	A	HLA-A	c.144C>A	NM_002116.8	NP_002107.3:p.(Ala48=)	NC_000006.11:g.29910604C>A	(Likely) benign	1 lab	bbb6242d11
2:160289346 BAZ2B T>C	2	160289346	160289346	T	C	BAZ2B	c.1816A>G	NM_001289975.1	NP_001276904.1:p.(Asn606Asp)	NC_000002.11:g.160289346T>C	VUS	1 lab	bbb63995d2
7:92134147 PEX1 G>A	7	92134147	92134147	G	A	PEX1	c.1346C>T	NM_001282678.2	NP_001269607.1:p.(Ser449Phe)	NC_000007.13:g.92134147G>A	(Likely) pathogenic	1 lab	bbb6c2c2d6
2:179468797 TTN C>G	2	179468797	179468797	C	G	TTN	c.54617G>C	NM_001267550.2	NP_001254479.2:p.(Arg18206Thr)	NC_000002.11:g.179468797C>G	VUS	1 lab	bbb721c3bb
12:12303825 LRP6 T>C	12	12303825	12303825	T	C	LRP6	c.2939A>G	NM_002336.3	NP_002327.2:p.(Tyr980Cys)	NC_000012.11:g.12303825T>C	VUS	1 lab	bbb7f96638
12:111886029 SH2B3 C>T	12	111886029	111886029	C	T	SH2B3	c.1651C>T	NM_005475.3	NP_005466.1:p.(Arg551Trp)	NC_000012.11:g.111886029C>T	VUS	1 lab	bbc0eb9be3
2:63821667 MDH1 G>A	2	63821667	63821667	G	A	MDH1	c.49G>A	NM_005917.4	NP_005908.1:p.(Ala17Thr)	NC_000002.11:g.63821667G>A	VUS	1 lab	bbc1db904a
1:228412227 OBSCN T>C	1	228412227	228412227	T	C	OBSCN	c.2721T>C	NM_052843.4	NP_443075.3:p.(Ser907=)	NC_000001.10:g.228412227T>C	(Likely) benign	1 lab	bbc2ad53d3
14:24629498 RNF31 A>C	14	24629498	24629498	A	C	RNF31	c.3047A>C	NM_017999.5	NP_060469.4:p.(Asp1016Ala)	NC_000014.8:g.24629498A>C	VUS	1 lab	bbccb05102
11:62289818 AHNAK G>C	11	62289818	62289818	G	C	AHNAK	c.12071C>G	NM_001620.3	NP_001611.1:p.(Pro4024Arg)	NC_000011.9:g.62289818G>C	VUS	1 lab	bbd4555ce2
22:46795804 CELSR1 A>G	22	46795804	46795804	A	G	CELSR1	c.5227-5T>C	NM_014246.4	NP_055061.1:p.?	NC_000022.10:g.46795804A>G	(Likely) benign	1 lab	bbde674cea
4:46258330 GABRA2 T>G	4	46258330	46258330	T	G	GABRA2	c.956A>C	NM_001286827.3	NP_001273756.1:p.(Gln319Pro)	NC_000004.11:g.46258330T>G	VUS	1 lab	bbdef08eb7
16:9857058 GRIN2A C>T	16	9857058	9857058	C	T	GRIN2A	c.4343G>A	NM_000833.5	NP_000824.1:p.(Cys1448Tyr)	NC_000016.9:g.9857058C>T	VUS	1 lab	bbe8a9aa75
4:46388201 GABRA2 A>G	4	46388201	46388201	A	G	GABRA2	c.77T>C	NM_001114175.3	NP_001107647.1:p.(Val26Ala)	NC_000004.11:g.46388201A>G	VUS	1 lab	bbea7483d4
6:123581786 TRDN T>TTA	6	123581786	123581788	T	TTA	TRDN	c.1805-5_1805-4dup	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581787_123581788dup	(Likely) benign	1 lab	bbf384f79b
X:12734859 FRMPD4 G>T	X	12734859	12734859	G	T	FRMPD4	c.2281G>T	NM_014728.3	NP_055543.2:p.(Val761Leu)	NC_000023.10:g.12734859G>T	VUS	1 lab	bbf49f9bdd
2:179471777 TTN A>G	2	179471777	179471777	A	G	TTN	c.53552T>C	NM_001267550.2	NP_001254479.2:p.(Ile17851Thr)	NC_000002.11:g.179471777A>G	VUS	1 lab	bbf4c802ca
9:33442060 AQP3 T>A	9	33442060	33442060	T	A	AQP3	c.860A>T	NM_004925.5	NP_004916.1:p.(Lys287Met)	NC_000009.11:g.33442060T>A	VUS	1 lab	bbf782f682
17:33444010 RAD51D GGCA>G	17	33444010	33444015	GGCA	G	RAD51D	c.188_190del	NM_001142571.2	NP_001136043.1:p.(Leu63del)	NC_000017.10:g.33444013_33444015del	VUS	1 lab	bbf80d1639
20:10620558 JAG1 A>G	20	10620558	10620558	A	G	JAG1	c.3245T>C	NM_000214.3	NP_000205.1:p.(Ile1082Thr)	NC_000020.10:g.10620558A>G	VUS	1 lab	bbfdf8476e
10:64968480 JMJD1C C>T	10	64968480	64968480	C	T	JMJD1C	c.2949G>A	NM_032776.3	NP_116165.1:p.(Arg983=)	NC_000010.10:g.64968480C>T	(Likely) benign	1 lab	bbfe0e3d3b
X:129273804 AIFM1 G>A	X	129273804	129273804	G	A	AIFM1	c.824C>T	NM_001130847.4	NP_001124319.1:p.(Ala275Val)	NC_000023.10:g.129273804G>A	VUS	1 lab	bc0158e156
7:117232074 CFTR T>C	7	117232074	117232074	T	C	CFTR	c.1853T>C	NM_000492.4	NP_000483.3:p.(Ile618Thr)	NC_000007.13:g.117232074T>C	(Likely) pathogenic	1 lab	bc0abc83e8
8:144996803 PLEC G>A	8	144996803	144996803	G	A	PLEC	c.7375C>T	NM_000445.5	NP_000436.2:p.(Gln2459Ter)	NC_000008.10:g.144996803G>A	(Likely) pathogenic	1 lab	bc0ae12f3a
11:118374590 KMT2A G>C	11	118374590	118374590	G	C	KMT2A	c.7983G>C	NM_001197104.2	NP_001184033.1:p.(Lys2661Asn)	NC_000011.9:g.118374590G>C	(Likely) benign	1 lab	bc0b83f63f
14:23887446 MYH7 T>G	14	23887446	23887446	T	G	MYH7	c.4142A>C	NM_000257.4	NP_000248.2:p.(Gln1381Pro)	NC_000014.8:g.23887446T>G	VUS	1 lab	bc0c7e7c2d
6:32797297 TAP2 T>C	6	32797297	32797297	T	C	TAP2	c.1812A>G	NM_001290043.2	NP_001276972.1:p.(Gly604=)	NC_000006.11:g.32797297T>C	(Likely) benign	1 lab	bc0ee0fea9
2:179615111 TTN CA>C	2	179615111	179615112	CA	C	TTN	c.12015del	NM_133379.5	NP_596870.2:p.(Val4006PhefsTer20)	NC_000002.11:g.179615112del	VUS	1 lab	bc1556f477
6:7584346 DSP G>A	6	7584346	7584346	G	A	DSP	c.6851G>A	NM_004415.4	NP_004406.2:p.(Arg2284Gln)	NC_000006.11:g.7584346G>A	VUS	1 lab	bc19727829
6:7574316 DSP CAG>C	6	7574316	7574320	CAG	C	DSP	c.2131_2132del	NM_004415.4	NP_004406.2:p.(Ser711CysfsTer4)	NC_000006.11:g.7574319_7574320del	(Likely) pathogenic	1 lab	bc1ddab7c7
16:58036516 USB1 C>T	16	58036516	58036516	C	T	USB1	c.232C>T	NM_001204911.2	NP_001191840.1:p.(Arg78Ter)	NC_000016.9:g.58036516C>T	(Likely) pathogenic	1 lab	bc205dab9c
1:74835162 TNNI3K C>A	1	74835162	74835162	C	A	TNNI3K	c.1560C>A	NM_015978.3	NP_057062.1:p.(Cys520Ter)	NC_000001.10:g.74835162C>A	VUS	1 lab	bc2163e78a
17:41244840 BRCA1 C>CAT	17	41244840	41244842	C	CAT	BRCA1	c.2706_2707dup	NM_007294.4	NP_009225.1:p.(Cys903TyrfsTer98)	NC_000017.10:g.41244841_41244842dup	(Likely) pathogenic	1 lab	bc258d92f2
11:17662601 OTOG A>ACAC	11	17662601	17662608	A	ACAC	OTOG	c.8194_8196dup	NM_001277269.2	NP_001264198.1:p.(Thr2732dup)	NC_000011.9:g.17662606_17662608dup	VUS	1 lab	bc277192ae
2:158636983 ACVR1 T>C	2	158636983	158636983	T	C	ACVR1	c.197A>G	NM_001105.5	NP_001096.1:p.(Tyr66Cys)	NC_000002.11:g.158636983T>C	VUS	1 lab	bc3ab3089d
X:79278685 TBX22 T>A	X	79278685	79278685	T	A	TBX22	c.302T>A	NM_001109878.2	NP_001103348.1:p.(Leu101Gln)	NC_000023.10:g.79278685T>A	(Likely) benign	1 lab	bc3ec80c88
X:110435405 PAK3 T>C	X	110435405	110435405	T	C	PAK3	c.879+2T>C	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110435405T>C	VUS	1 lab	bc40158855
3:55514932 WNT5A T>C	3	55514932	55514932	T	C	WNT5A	c.21A>G	NM_003392.7	NP_003383.4:p.(Ile7Met)	NC_000003.11:g.55514932T>C	VUS	1 lab	bc406188b6
2:241656825 KIF1A T>C	2	241656825	241656825	T	C	KIF1A	c.5031-2A>G	NM_004321.8	NP_004312.2:p.?	NC_000002.11:g.241656825T>C	VUS	1 lab	bc41a305b3
8:133186517 KCNQ3 A>G	8	133186517	133186517	A	G	KCNQ3	c.1013T>C	NM_004519.4	NP_004510.1:p.(Leu338Ser)	NC_000008.10:g.133186517A>G	VUS	1 lab	bc45ed0270
14:29237353 FOXG1 G>A	14	29237353	29237353	G	A	FOXG1	c.868G>A	NM_005249.5	NP_005240.3:p.(Ala290Thr)	NC_000014.8:g.29237353G>A	VUS	1 lab	bc4606a310
8:143823316 SLURP1 CA>C	8	143823316	143823317	CA	C	SLURP1	c.82del	NM_020427.3	NP_065160.1:p.(Cys28AlafsTer5)	NC_000008.10:g.143823317del	(Likely) pathogenic	1 lab	bc50ca288b
2:179432981 TTN C>T	2	179432981	179432981	C	T	TTN	c.77878G>A	NM_001267550.2	NP_001254479.2:p.(Glu25960Lys)	NC_000002.11:g.179432981C>T	VUS	1 lab	bc58289bfb
16:88901743 GALNS C>T	16	88901743	88901743	C	T	GALNS	c.794G>A	NM_001323544.2	NP_001310473.1:p.(Arg265Gln)	NC_000016.9:g.88901743C>T	VUS	1 lab	bc62548a03
3:24231829 THRB A>G	3	24231829	24231829	A	G	THRB	c.23-4T>C	NM_000461.5	NP_000452.2:p.?	NC_000003.11:g.24231829A>G	(Likely) benign	1 lab	bc682f2b01
17:8017802 ALOXE3 G>A	17	8017802	8017802	G	A	ALOXE3	c.680C>T	NM_021628.3	NP_067641.2:p.(Ala227Val)	NC_000017.10:g.8017802G>A	VUS	1 lab	bc75432c7c
21:34932085 SON A>C	21	34932085	34932085	A	C	SON	c.6657+4A>C	NM_032195.3	NP_115571.3:p.?	NC_000021.8:g.34932085A>C	(Likely) benign	1 lab	bc76435927
12:52306868 ACVRL1 C>T	12	52306868	52306868	C	T	ACVRL1	c.62-15C>T	NM_000020.3	NP_000011.2:p.?	NC_000012.11:g.52306868C>T	(Likely) benign	1 lab	bc7954c694
2:84990029 DNAH6 G>A	2	84990029	84990029	G	A	DNAH6	c.10663G>A	NM_001370.2	NP_001361.1:p.(Ala3555Thr)	NC_000002.11:g.84990029G>A	VUS	1 lab	bc7a2d5e90
15:94888377 MCTP2 G>A	15	94888377	94888377	G	A	MCTP2	c.989G>A	NM_018349.4	NP_060819.3:p.(Arg330Gln)	NC_000015.9:g.94888377G>A	VUS	1 lab	bc7c30c63f
11:47365097 MYBPC3 TGGTCAGCCAGTTCCAC>T	11	47365097	47365121	TGGTCAGCCAGTTCCAC	T	MYBPC3	c.1153_1168del	NM_000256.3	NP_000247.2:p.(Val385MetfsTer16)	NC_000011.9:g.47365106_47365121del	(Likely) pathogenic	1 lab	bc7db3140b
2:166848123 SCN1A G>C	2	166848123	166848123	G	C	SCN1A	c.5662C>G	NM_001165963.4	NP_001159435.1:p.(Gln1888Glu)	NC_000002.11:g.166848123G>C	VUS	1 lab	bc7e226c92
15:64039182 HERC1 C>A	15	64039182	64039182	C	A	HERC1	c.2455G>T	NM_003922.4	NP_003913.3:p.(Ala819Ser)	NC_000015.9:g.64039182C>A	VUS	1 lab	bc82b81544
11:62302543 AHNAK G>A	11	62302543	62302543	G	A	AHNAK	c.274C>T	NM_001620.3	NP_001611.1:p.(Arg92Cys)	NC_000011.9:g.62302543G>A	VUS	1 lab	bc84f32af9
X:68836154 EDA T>A	X	68836154	68836154	T	A	EDA	c.2T>A	NM_001399.5	NP_001390.1:p.(Met1?)	NC_000023.10:g.68836154T>A	(Likely) pathogenic	1 lab	bc879f7592
1:8526019 RERE T>C	1	8526019	8526019	T	C	RERE	c.1169A>G	NM_012102.4	NP_036234.3:p.(Lys390Arg)	NC_000001.10:g.8526019T>C	(Likely) benign	1 lab	bc9123447a
16:2134536 TSC2 G>A	16	2134536	2134536	G	A	TSC2	c.4313G>A	NM_000548.5	NP_000539.2:p.(Arg1438Gln)	NC_000016.9:g.2134536G>A	VUS	1 lab	bc961dff7c
10:102749148 TWNK G>A	10	102749148	102749148	G	A	TWNK	c.1181G>A	NM_021830.5	NP_068602.2:p.(Arg394His)	NC_000010.10:g.102749148G>A	VUS	1 lab	bc98bd5567
7:42088204 GLI3 G>A	7	42088204	42088204	G	A	GLI3	c.565C>T	NM_000168.6	NP_000159.3:p.(Pro189Ser)	NC_000007.13:g.42088204G>A	(Likely) benign	1 lab	bc9a347549
17:7751778 KDM6B G>A	17	7751778	7751778	G	A	KDM6B	c.2172G>A	NM_001080424.2	NP_001073893.1:p.(Pro724=)	NC_000017.10:g.7751778G>A	(Likely) benign	1 lab	bc9a6f3f8f
18:44171979 LOXHD1 C>T	18	44171979	44171979	C	T	LOXHD1	c.1571G>A	NM_144612.7	NP_653213.6:p.(Arg524His)	NC_000018.9:g.44171979C>T	VUS	1 lab	bc9c83c754
5:14487609 TRIO G>A	5	14487609	14487609	G	A	TRIO	c.6872G>A	NM_007118.4	NP_009049.2:p.(Ser2291Asn)	NC_000005.9:g.14487609G>A	VUS	1 lab	bca1cac576
2:110927466 NPHP1 C>T	2	110927466	110927466	C	T	NPHP1	c.439G>A	NM_000272.5	NP_000263.2:p.(Glu147Lys)	NC_000002.11:g.110927466C>T	VUS	1 lab	bcb2a7b8f5
10:92680782 ANKRD1 C>T	10	92680782	92680782	C	T	ANKRD1	c.3G>A	NM_014391.3	NP_055206.2:p.(Met1?)	NC_000010.10:g.92680782C>T	VUS	1 lab	bcb4edf8a7
12:110765364 ATP2A2 A>G	12	110765364	110765364	A	G	ATP2A2	c.637A>G	NM_170665.4	NP_733765.1:p.(Asn213Asp)	NC_000012.11:g.110765364A>G	VUS	1 lab	bcbbdffffa
22:37271802 NCF4 C>T	22	37271802	37271802	C	T	NCF4	c.735C>T	NM_013416.4	NP_038202.2:p.(Tyr245=)	NC_000022.10:g.37271802C>T	(Likely) benign	1 lab	bcc2131dd5
X:11130263 HCCS A>G	X	11130263	11130263	A	G	HCCS	c.83A>G	NM_005333.5	NP_005324.3:p.(His28Arg)	NC_000023.10:g.11130263A>G	VUS	1 lab	bcd00f83ca
19:55672117 DNAAF3 G>T	19	55672117	55672117	G	T	DNAAF3	c.1143C>A	NM_001256714.1	NP_001243643.1:p.(Asn381Lys)	NC_000019.9:g.55672117G>T	VUS	1 lab	bcd2289ed2
15:51226861 AP4E1 C>T	15	51226861	51226861	C	T	AP4E1	c.685C>T	NM_001252127.2	NP_001239056.1:p.(Arg229Ter)	NC_000015.9:g.51226861C>T	(Likely) pathogenic	1 lab	bcdd934ad3
1:158596654 SPTA1 C>T	1	158596654	158596654	C	T	SPTA1	c.5808G>A	NM_003126.4	NP_003117.2:p.(Lys1936=)	NC_000001.10:g.158596654C>T	(Likely) benign	1 lab	bce07dff23
16:85688491 GSE1 C>T	16	85688491	85688491	C	T	GSE1	c.691C>T	NM_014615.5	NP_055430.1:p.(Leu231Phe)	NC_000016.9:g.85688491C>T	VUS	1 lab	bce1512d0e
6:152831331 SYNE1 C>T	6	152831331	152831331	C	T	SYNE1	c.599G>A	NM_033071.5	NP_149062.2:p.(Gly200Asp)	NC_000006.11:g.152831331C>T	VUS	1 lab	bce8306a4f
6:112382313 CCN6 G>T	6	112382313	112382313	G	T	CCN6	c.168G>T	NM_198239.2	NP_937882.2:p.(Gln56His)	NC_000006.11:g.112382313G>T	(Likely) benign	1 lab	bce86fa7c9
8:106573578 ZFPM2 C>T	8	106573578	106573578	C	T	ZFPM2	c.302-13C>T	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106573578C>T	(Likely) benign	1 lab	bcea151557
22:37267767 NCF4 A>G	22	37267767	37267767	A	G	NCF4	c.528+16A>G	NM_013416.4	NP_038202.2:p.?	NC_000022.10:g.37267767A>G	(Likely) benign	1 lab	bcec0bc4c2
3:142281847 ATR G>T	3	142281847	142281847	G	T	ATR	c.397C>A	NM_001184.4	NP_001175.2:p.(Leu133Ile)	NC_000003.11:g.142281847G>T	VUS	1 lab	bceeceb35d
2:220022176 NHEJ1 C>T	2	220022176	220022176	C	T	NHEJ1	c.390+18G>A	NM_024782.3	NP_079058.1:p.?	NC_000002.11:g.220022176C>T	(Likely) benign	1 lab	bceffae794
2:26417950 HADHA C>G	2	26417950	26417950	C	G	HADHA	c.1620+11G>C	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26417950C>G	(Likely) benign	1 lab	bcf21e81f3
18:32374005 DTNA C>G	18	32374005	32374005	C	G	DTNA	c.153C>G	NM_001198939.2	NP_001185868.1:p.(His51Gln)	NC_000018.9:g.32374005C>G	VUS	1 lab	bcf4fc04ce
20:2841439 VPS16 G>A	20	2841439	2841439	G	A	VPS16	c.560G>A	NM_022575.4	NP_072097.2:p.(Arg187Gln)	NC_000020.10:g.2841439G>A	VUS	1 lab	bcf6b7c546
X:69253320 EDA G>A	X	69253320	69253320	G	A	EDA	c.866G>A	NM_001399.5	NP_001390.1:p.(Arg289His)	NC_000023.10:g.69253320G>A	(Likely) pathogenic	1 lab	bcf946f275
17:29645651 NF1 C>T	17	29645651	29645651	C	T	NF1	c.4773-7187C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29645651C>T	(Likely) benign	1 lab	bcffef06f4
12:7044762 ATN1 G>A	12	7044762	7044762	G	A	ATN1	c.332G>A	NM_001007026.2	NP_001007027.1:p.(Arg111Gln)	NC_000012.11:g.7044762G>A	VUS	1 lab	bd0a442a76
12:57605973 LRP1 A>T	12	57605973	57605973	A	T	LRP1	c.13423A>T	NM_002332.3	NP_002323.2:p.(Met4475Leu)	NC_000012.11:g.57605973A>T	VUS	1 lab	bd0aa0b3c7
2:86255167 POLR1A C>T	2	86255167	86255167	C	T	POLR1A	c.4903G>A	NM_015425.6	NP_056240.2:p.(Ala1635Thr)	NC_000002.11:g.86255167C>T	(Likely) benign	1 lab	bd0c909e5c
14:75376357 RPS6KL1 C>T	14	75376357	75376357	C	T	RPS6KL1	c.1159G>A	NM_031464.5	NP_113652.2:p.(Glu387Lys)	NC_000014.8:g.75376357C>T	VUS	1 lab	bd101371b5
5:150946049 FAT2 T>C	5	150946049	150946049	T	C	FAT2	c.2444A>G	NM_001447.3	NP_001438.1:p.(Asp815Gly)	NC_000005.9:g.150946049T>C	VUS	1 lab	bd10a7c7c7
17:66511679 PRKAR1A A>G	17	66511679	66511679	A	G	PRKAR1A	c.139A>G	NM_002734.5	NP_002725.1:p.(Met47Val)	NC_000017.10:g.66511679A>G	VUS	1 lab	bd1348e282
8:102582615 GRHL2 A>T	8	102582615	102582615	A	T	GRHL2	c.727A>T	NM_024915.4	NP_079191.2:p.(Thr243Ser)	NC_000008.10:g.102582615A>T	VUS	1 lab	bd14d634fd
14:23868221 MYH6 T>C	14	23868221	23868221	T	C	MYH6	c.1607A>G	NM_002471.4	NP_002462.2:p.(Glu536Gly)	NC_000014.8:g.23868221T>C	VUS	1 lab	bd1830ebad
12:54913118 NCKAP1L T>G	12	54913118	54913118	T	G	NCKAP1L	c.1625+2T>G	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54913118T>G	(Likely) pathogenic	1 lab	bd1a98859f
4:110661937 CFI G>A	4	110661937	110661937	G	A	CFI	c.*112C>T	NM_000204.5	NP_000195.3:p.?	NC_000004.11:g.110661937G>A	(Likely) benign	1 lab	bd1bbdbd11
19:36224078 KMT2B C>T	19	36224078	36224078	C	T	KMT2B	c.6628C>T	NM_014727.3	NP_055542.1:p.(Pro2210Ser)	NC_000019.9:g.36224078C>T	(Likely) benign	1 lab	bd1bfbe615
1:1957154 GABRD C>T	1	1957154	1957154	C	T	GABRD	c.447C>T	NM_000815.5	NP_000806.2:p.(Asp149=)	NC_000001.10:g.1957154C>T	(Likely) benign	1 lab	bd1c2f3a1c
9:35657845 RMRP C>T	9	35657845	35657845	C	T	RMRP	n.171G>A	NR_003051.3		NC_000009.11:g.35657845C>T	VUS	1 lab	bd1c58788f
11:6648071 DCHS1 G>A	11	6648071	6648071	G	A	DCHS1	c.6199C>T	NM_003737.4	NP_003728.1:p.(Arg2067Cys)	NC_000011.9:g.6648071G>A	VUS	1 lab	bd1fba4504
16:89345844 ANKRD11 G>A	16	89345844	89345844	G	A	ANKRD11	c.7106C>T	NM_001256182.2	NP_001243111.1:p.(Ala2369Val)	NC_000016.9:g.89345844G>A	(Likely) benign	1 lab	bd2616ee74
5:70754685 BDP1 A>C	5	70754685	70754685	A	C	BDP1	c.489+3A>C	NM_018429.3	NP_060899.2:p.?	NC_000005.9:g.70754685A>C	VUS	1 lab	bd2b11907d
1:214802390 CENPF A>G	1	214802390	214802390	A	G	CENPF	c.1070A>G	NM_016343.4	NP_057427.3:p.(Tyr357Cys)	NC_000001.10:g.214802390A>G	VUS	1 lab	bd2d7eebce
19:48183158 BICRA C>G	19	48183158	48183158	C	G	BICRA	c.731C>G	NM_015711.3	NP_056526.3:p.(Ala244Gly)	NC_000019.9:g.48183158C>G	VUS	1 lab	bd2da9860b
16:175075 NPRL3 C>CA	16	175075	175096	C	CA	NPRL3	c.188+5445dup	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.175096dup	(Likely) benign	1 lab	bd304b592a
2:230678950 TRIP12 G>A	2	230678950	230678950	G	A	TRIP12	c.1679C>T	NM_004238.3	NP_004229.1:p.(Ala560Val)	NC_000002.11:g.230678950G>A	(Likely) benign	1 lab	bd306150ab
6:73904946 KCNQ5 T>C	6	73904946	73904946	T	C	KCNQ5	c.2665T>C	NM_001160133.2	NP_001153605.1:p.(Phe889Leu)	NC_000006.11:g.73904946T>C	(Likely) benign	1 lab	bd30b9783f
3:57343839 DNAH12 T>G	3	57343839	57343839	T	G	DNAH12	c.10940A>C	NM_001366028.2	NP_001352957.1:p.(Glu3647Ala)	NC_000003.11:g.57343839T>G	VUS	1 lab	bd353fc9f7
5:125929000 ALDH7A1 AACAC>A	5	125929000	125929036	AACAC	A	ALDH7A1	c.246+39_246+42del	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929033_125929036del	(Likely) benign	1 lab	bd38e587b3
1:17318617 ATP13A2 G>A	1	17318617	17318617	G	A	ATP13A2	c.2013C>T	NM_022089.4	NP_071372.1:p.(Thr671=)	NC_000001.10:g.17318617G>A	(Likely) benign	1 lab	bd3a3c7320
19:11143977 SMARCA4 G>A	19	11143977	11143977	G	A	SMARCA4	c.3558G>A	NM_001128844.3	NP_001122316.1:p.(Ala1186=)	NC_000019.9:g.11143977G>A	(Likely) benign	1 lab	bd3e5daba5
12:52886478 KRT6A T>C	12	52886478	52886478	T	C	KRT6A	c.495A>G	NM_005554.4	NP_005545.1:p.(Glu165=)	NC_000012.11:g.52886478T>C	(Likely) benign	1 lab	bd41b513ab
9:135978153 RALGDS G>C	9	135978153	135978153	G	C	RALGDS	c.1913+13C>G	NM_006266.4	NP_006257.1:p.?	NC_000009.11:g.135978153G>C	(Likely) benign	1 lab	bd427b45c5
16:72042682 DHODH A>C	16	72042682	72042682	A	C	DHODH	c.19A>C	NM_001361.5	NP_001352.2:p.(Lys7Gln)	NC_000016.9:g.72042682A>C	(Likely) benign	1 lab	bd45c0d5aa
6:7580217 DSP A>G	6	7580217	7580217	A	G	DSP	c.3794A>G	NM_004415.4	NP_004406.2:p.(Glu1265Gly)	NC_000006.11:g.7580217A>G	VUS	1 lab	bd46ab4ee5
14:102477281 DYNC1H1 G>T	14	102477281	102477281	G	T	DYNC1H1	c.6610G>T	NM_001376.5	NP_001367.2:p.(Val2204Phe)	NC_000014.8:g.102477281G>T	VUS	1 lab	bd4c4c922c
9:140706028 EHMT1 T>C	9	140706028	140706028	T	C	EHMT1	c.2828T>C	NM_024757.5	NP_079033.4:p.(Leu943Pro)	NC_000009.11:g.140706028T>C	(Likely) pathogenic	1 lab	bd4c8e6c31
12:125437027 DHX37 C>T	12	125437027	125437027	C	T	DHX37	c.2785G>A	NM_032656.4	NP_116045.2:p.(Val929Met)	NC_000012.11:g.125437027C>T	VUS	1 lab	bd4e91e903
14:64657684 SYNE2 C>A	14	64657684	64657684	C	A	SYNE2	c.18038+729C>A	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64657684C>A	(Likely) benign	1 lab	bd4f03f1d4
4:190862155 FRG1 T>G	4	190862155	190862155	T	G	FRG1	c.-10T>G	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190862155T>G	(Likely) benign	1 lab	bd4f36a5a3
15:57953705 MYZAP G>A	15	57953705	57953705	G	A	MYZAP	c.1177G>A	NM_001018100.5	NP_001018110.1:p.(Glu393Lys)	NC_000015.9:g.57953705G>A	VUS	1 lab	bd4fd76119
12:7053266 C12orf57 C>T	12	7053266	7053266	C	T	C12orf57	c.-19C>T	NM_138425.4	NP_612434.1:p.?	NC_000012.11:g.7053266C>T	VUS	1 lab	bd554fe306
17:39766601 KRT16 A>G	17	39766601	39766601	A	G	KRT16	c.1262T>C	NM_005557.4	NP_005548.2:p.(Leu421Pro)	NC_000017.10:g.39766601A>G	(Likely) pathogenic	1 lab	bd5e976e32
11:36597376 RAG1 G>A	11	36597376	36597376	G	A	RAG1	c.2522G>A	NM_000448.3	NP_000439.2:p.(Arg841Gln)	NC_000011.9:g.36597376G>A	(Likely) pathogenic	1 lab	bd63b087c5
19:36247851 HSPB6 G>A	19	36247851	36247851	G	A	HSPB6	c.59C>T	NM_144617.3	NP_653218.1:p.(Pro20Leu)	NC_000019.9:g.36247851G>A	VUS	1 lab	bd64ce195b
19:18180413 IL12RB1 C>G	19	18180413	18180413	C	G	IL12RB1	c.1132G>C	NM_005535.3	NP_005526.1:p.(Gly378Arg)	NC_000019.9:g.18180413C>G	(Likely) benign	1 lab	bd65052bc4
3:48603993 COL7A1 G>T	3	48603993	48603993	G	T	COL7A1	c.8308C>A	NM_000094.4	NP_000085.1:p.(Arg2770=)	NC_000003.11:g.48603993G>T	(Likely) benign	1 lab	bd671ea236
17:74473316 RHBDF2 C>T	17	74473316	74473316	C	T	RHBDF2	c.953G>A	NM_024599.5	NP_078875.4:p.(Arg318Gln)	NC_000017.10:g.74473316C>T	VUS	1 lab	bd6723f88b
10:101578577 ABCC2 C>T	10	101578577	101578577	C	T	ABCC2	c.2302C>T	NM_000392.5	NP_000383.2:p.(Arg768Trp)	NC_000010.10:g.101578577C>T	(Likely) pathogenic	1 lab	bd68a84256
11:67925429 KMT5B A>T	11	67925429	67925429	A	T	KMT5B	c.2384T>A	NM_017635.5	NP_060105.3:p.(Leu795His)	NC_000011.9:g.67925429A>T	VUS	1 lab	bd6941c8c5
1:45805566 MUTYH G>C	1	45805566	45805566	G	C	MUTYH	c.36+325C>G	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45805566G>C	(Likely) benign	1 lab	bd6ac730b7
19:36595474 WDR62 C>T	19	36595474	36595474	C	T	WDR62	c.4208C>T	NM_001083961.2	NP_001077430.1:p.(Pro1403Leu)	NC_000019.9:g.36595474C>T	VUS	1 lab	bd6da198bc
3:138664890 FOXL2 CGCT>C	3	138664890	138664895	CGCT	C	FOXL2	c.672_674del	NM_023067.4	NP_075555.1:p.(Ala234del)	NC_000003.11:g.138664893_138664895del	VUS	1 lab	bd72c59c52
11:134131080 ACAD8 T>C	11	134131080	134131080	T	C	ACAD8	c.841+7T>C	NM_014384.3	NP_055199.1:p.?	NC_000011.9:g.134131080T>C	(Likely) benign	1 lab	bd7b6f2614
10:105798225 COL17A1 AGGCCCAGGG>A	10	105798225	105798248	AGGCCCAGGG	A	COL17A1	c.3000_3008del	NM_000494.4	NP_000485.3:p.(Pro1003_Gly1005del)	NC_000010.10:g.105798240_105798248del	(Likely) pathogenic	1 lab	bd8129b18a
18:59713102 PIGN C>T	18	59713102	59713102	C	T	PIGN	c.2783G>A	NM_176787.5	NP_789744.1:p.(Ser928Asn)	NC_000018.9:g.59713102C>T	(Likely) benign	1 lab	bd8272e123
3:123456224 MYLK C>T	3	123456224	123456224	C	T	MYLK	c.754+1G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123456224C>T	VUS	1 lab	bd8527cde6
11:694947 DEAF1 CCTGCCGCGGCCGCGGCCGCCGCCGCCACAG>C	11	694947	694978	CCTGCCGCGGCCGCGGCCGCCGCCGCCACAG	C	DEAF1	c.71_100del	NM_021008.4	NP_066288.2:p.(Ala24_Ala33del)	NC_000011.9:g.694949_694978del	(Likely) benign	1 lab	bd8b4288f7
18:28725734 DSC1 G>A	18	28725734	28725734	G	A	DSC1	c.779C>T	NM_024421.2	NP_077739.1:p.(Ser260Leu)	NC_000018.9:g.28725734G>A	VUS	1 lab	d9f0bb313d
4:39474755 LIAS C>A	4	39474755	39474755	C	A	LIAS	c.990C>A	NM_006859.4	NP_006850.2:p.(Tyr330Ter)	NC_000004.11:g.39474755C>A	(Likely) pathogenic	1 lab	bd8ffe458f
15:93524145 CHD2 A>G	15	93524145	93524145	A	G	CHD2	c.2973+4A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93524145A>G	(Likely) benign	1 lab	bd921f1d59
3:134280395 CEP63 T>A	3	134280395	134280395	T	A	CEP63	c.*18T>A	NM_025180.5	NP_079456.2:p.?	NC_000003.11:g.134280395T>A	(Likely) benign	1 lab	bd94acb18e
5:140720516 PCDHGA1 C>G	5	140720516	140720516	C	G	PCDHGA1	c.2421+7844C>G	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140720516C>G	(Likely) benign	1 lab	bd9513264d
X:100658852 GLA G>A	X	100658852	100658852	G	A	GLA	c.316C>T	NM_000169.3	NP_000160.1:p.(Leu106Phe)	NC_000023.10:g.100658852G>A	(Likely) pathogenic	1 lab	bd98a806cb
18:32455306 DTNA C>T	18	32455306	32455306	C	T	DTNA	c.1766C>T	NM_001390.4	NP_001381.2:p.(Thr589Met)	NC_000018.9:g.32455306C>T	VUS	1 lab	bd9a728a5c
3:10088422 FANCD2 C>T	3	10088422	10088422	C	T	FANCD2	c.1278+15C>T	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10088422C>T	(Likely) benign	1 lab	bd9ce1632e
3:48620050 COL7A1 CCTTGG>C	3	48620050	48620057	CCTTGG	C	COL7A1	c.4550_4554del	NM_000094.4	NP_000085.1:p.(Ala1517GlyfsTer3)	NC_000003.11:g.48620053_48620057del	(Likely) pathogenic	1 lab	bd9efad0da
14:23863350 MYH6 C>T	14	23863350	23863350	C	T	MYH6	c.2612G>A	NM_002471.4	NP_002462.2:p.(Arg871His)	NC_000014.8:g.23863350C>T	VUS	1 lab	bda244488c
19:7707162 STXBP2 A>T	19	7707162	7707162	A	T	STXBP2	c.737A>T	NM_006949.4	NP_008880.2:p.(Glu246Val)	NC_000019.9:g.7707162A>T	VUS	1 lab	bda7da6223
12:41330611 CNTN1 T>C	12	41330611	41330611	T	C	CNTN1	c.1014T>C	NM_001843.4	NP_001834.2:p.(Asn338=)	NC_000012.11:g.41330611T>C	(Likely) benign	1 lab	bda9e99a84
6:90322069 ANKRD6 C>T	6	90322069	90322069	C	T	ANKRD6	c.496C>T	NM_001242809.2	NP_001229738.1:p.(Arg166Cys)	NC_000006.11:g.90322069C>T	VUS	1 lab	bdab70c47b
9:126136037 CRB2 A>C	9	126136037	126136037	A	C	CRB2	c.3227A>C	NM_173689.7	NP_775960.4:p.(Asp1076Ala)	NC_000009.11:g.126136037A>C	(Likely) pathogenic	1 lab	bdb00c89b7
6:110424657 WASF1 C>A	6	110424657	110424657	C	A	WASF1	c.817G>T	NM_003931.3	NP_003922.1:p.(Val273Phe)	NC_000006.11:g.110424657C>A	VUS	1 lab	bdb01baa65
21:34925765 SON G>A	21	34925765	34925765	G	A	SON	c.4228G>A	NM_032195.3	NP_115571.3:p.(Val1410Ile)	NC_000021.8:g.34925765G>A	(Likely) benign	1 lab	bdb0dac8b5
11:47459586 RAPSN GTT>G	11	47459586	47459588	GTT	G	RAPSN	c.1177_1178del	NM_005055.5	NP_005046.2:p.(Asn393GlnfsTer83)	NC_000011.9:g.47459587_47459588del	(Likely) pathogenic	1 lab	bdb1333764
1:245530583 KIF26B A>C	1	245530583	245530583	A	C	KIF26B	c.913A>C	NM_018012.4	NP_060482.2:p.(Asn305His)	NC_000001.10:g.245530583A>C	(Likely) benign	1 lab	bdb206034c
15:65369598 KBTBD13 G>A	15	65369598	65369598	G	A	KBTBD13	c.445G>A	NM_001101362.3	NP_001094832.1:p.(Val149Met)	NC_000015.9:g.65369598G>A	VUS	1 lab	bdb3765dbe
14:23874418 MYH6 G>T	14	23874418	23874418	G	T	MYH6	c.502+14C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23874418G>T	(Likely) benign	1 lab	bdb720c297
8:11607623 GATA4 G>T	8	11607623	11607623	G	T	GATA4	c.787G>T	NM_002052.5	NP_002043.2:p.(Ala263Ser)	NC_000008.10:g.11607623G>T	VUS	1 lab	bdbe2fa868
1:1469289 ATAD3A G>C	1	1469289	1469289	G	C	ATAD3A	c.1615-17G>C	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1469289G>C	(Likely) benign	1 lab	bdbe32d355
17:5291126 NUP88 T>C	17	5291126	5291126	T	C	NUP88	c.1742A>G	NM_002532.6	NP_002523.2:p.(Asp581Gly)	NC_000017.10:g.5291126T>C	VUS	1 lab	bdbe9d4f25
2:179658255 TTN G>A	2	179658255	179658255	G	A	TTN	c.1412C>T	NM_001267550.2	NP_001254479.2:p.(Ala471Val)	NC_000002.11:g.179658255G>A	VUS	1 lab	bdbf7c9cde
1:155408635 ASH1L T>C	1	155408635	155408635	T	C	ASH1L	c.5311A>G	NM_018489.3	NP_060959.2:p.(Thr1771Ala)	NC_000001.10:g.155408635T>C	(Likely) benign	1 lab	bdc09066b7
1:75006027 TNNI3K A>G	1	75006027	75006027	A	G	TNNI3K	c.2431+30A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.75006027A>G	(Likely) benign	1 lab	bdc53d962d
7:70228175 AUTS2 G>A	7	70228175	70228175	G	A	AUTS2	c.1062G>A	NM_015570.4	NP_056385.1:p.(Pro354=)	NC_000007.13:g.70228175G>A	(Likely) benign	1 lab	bdc5f52a50
12:49431307 KMT2D G>A	12	49431307	49431307	G	A	KMT2D	c.9832C>T	NM_003482.4	NP_003473.3:p.(Gln3278Ter)	NC_000012.11:g.49431307G>A	(Likely) pathogenic	1 lab	bdc6821d90
2:209209827 PIKFYVE G>A	2	209209827	209209827	G	A	PIKFYVE	c.5028-8G>A	NM_015040.4	NP_055855.2:p.?	NC_000002.11:g.209209827G>A	(Likely) benign	1 lab	bdce2bd634
X:154563706 CLIC2 C>T	X	154563706	154563706	C	T	CLIC2	c.31G>A	NM_001289.6	NP_001280.3:p.(Asp11Asn)	NC_000023.10:g.154563706C>T	VUS	1 lab	bdd36f5d88
2:48028146 MSH6 C>T	2	48028146	48028146	C	T	MSH6	c.3024C>T	NM_000179.3	NP_000170.1:p.(Thr1008=)	NC_000002.11:g.48028146C>T	(Likely) benign	1 lab	bdfe2fb8e7
16:1497574 CLCN7 G>A	16	1497574	1497574	G	A	CLCN7	c.2074-5C>T	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1497574G>A	(Likely) benign	1 lab	bdd642b55e
12:49443793 KMT2D G>C	12	49443793	49443793	G	C	KMT2D	c.3578C>G	NM_003482.4	NP_003473.3:p.(Ala1193Gly)	NC_000012.11:g.49443793G>C	VUS	1 lab	bdd8fbe3bb
11:47355573 MYBPC3 G>C	11	47355573	47355573	G	C	MYBPC3	c.2906-12C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355573G>C	(Likely) benign	1 lab	bddbf040dd
7:73462520 ELN C>A	7	73462520	73462520	C	A	ELN	c.734C>A	NM_001278939.2	NP_001265868.1:p.(Pro245Gln)	NC_000007.13:g.73462520C>A	VUS	1 lab	bde09a652e
2:179477644 TTN C>T	2	179477644	179477644	C	T	TTN	c.49804G>A	NM_001267550.2	NP_001254479.2:p.(Ala16602Thr)	NC_000002.11:g.179477644C>T	VUS	1 lab	bde5e31e51
3:52432933 DNAH1 G>A	3	52432933	52432933	G	A	DNAH1	c.12157G>A	NM_015512.5	NP_056327.4:p.(Val4053Ile)	NC_000003.11:g.52432933G>A	VUS	1 lab	bde7ad55c6
7:5569201 ACTB C>T	7	5569201	5569201	C	T	ACTB	c.88G>A	NM_001101.5	NP_001092.1:p.(Val30Ile)	NC_000007.13:g.5569201C>T	VUS	1 lab	bdf1fd2329
1:39824450 MACF1 T>C	1	39824450	39824450	T	C	MACF1	c.5839T>C	NM_012090.5	NP_036222.3:p.(Trp1947Arg)	NC_000001.10:g.39824450T>C	VUS	1 lab	bdf23f1daa
6:56397145 DST G>A	6	56397145	56397145	G	A	DST	c.10748C>T	NM_001144769.5	NP_001138241.1:p.(Thr3583Ile)	NC_000006.11:g.56397145G>A	VUS	1 lab	be06dc4a11
3:9486905 SETD5 A>G	3	9486905	9486905	A	G	SETD5	c.1361A>G	NM_001080517.3	NP_001073986.1:p.(Gln454Arg)	NC_000003.11:g.9486905A>G	VUS	1 lab	be10535dcb
17:41244099 BRCA1 G>C	17	41244099	41244099	G	C	BRCA1	c.3449C>G	NM_007294.4	NP_009225.1:p.(Pro1150Arg)	NC_000017.10:g.41244099G>C	VUS	1 lab	be1078c0a2
16:1816343 MAPK8IP3 G>A	16	1816343	1816343	G	A	MAPK8IP3	c.2752G>A	NM_001318852.2	NP_001305781.1:p.(Gly918Arg)	NC_000016.9:g.1816343G>A	VUS	1 lab	be10ceb6a2
15:89864129 POLG T>C	15	89864129	89864129	T	C	POLG	c.2849A>G	NM_002693.3	NP_002684.1:p.(Asn950Ser)	NC_000015.9:g.89864129T>C	VUS	1 lab	be11d432c8
15:57896559 MYZAP G>C	15	57896559	57896559	G	C	MYZAP	c.162+6G>C	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57896559G>C	(Likely) benign	1 lab	be15e53e6d
20:36640975 TTI1 A>G	20	36640975	36640975	A	G	TTI1	c.1244T>C	NM_014657.3	NP_055472.1:p.(Ile415Thr)	NC_000020.10:g.36640975A>G	VUS	1 lab	be172a62dc
10:79777373 POLR3A C>G	10	79777373	79777373	C	G	POLR3A	c.1391G>C	NM_007055.4	NP_008986.2:p.(Arg464Pro)	NC_000010.10:g.79777373C>G	VUS	1 lab	be19a263a4
11:31825227 PAX6 G>T	11	31825227	31825227	G	T	PAX6	c.158C>A	NM_001368910.2	NP_001355839.1:p.(Ala53Glu)	NC_000011.9:g.31825227G>T	(Likely) benign	1 lab	be1b534ba1
2:74328420 TET3 C>T	2	74328420	74328420	C	T	TET3	c.4505C>T	NM_001287491.2	NP_001274420.1:p.(Ser1502Phe)	NC_000002.11:g.74328420C>T	VUS	1 lab	be201aec38
20:6078218 FERMT1 C>A	20	6078218	6078218	C	A	FERMT1	c.910G>T	NM_017671.5	NP_060141.3:p.(Glu304Ter)	NC_000020.10:g.6078218C>A	(Likely) pathogenic	1 lab	be26a9bb1e
3:48610654 COL7A1 TA>T	3	48610654	48610655	TA	T	COL7A1	c.6666del	NM_000094.4	NP_000085.1:p.(Thr2223LeufsTer165)	NC_000003.11:g.48610655del	(Likely) pathogenic	1 lab	be2d870db4
2:179473515 TTN T>G	2	179473515	179473515	T	G	TTN	c.52223A>C	NM_001267550.2	NP_001254479.2:p.(Lys17408Thr)	NC_000002.11:g.179473515T>G	VUS	1 lab	be30656a90
13:32911439 BRCA2 C>T	13	32911439	32911439	C	T	BRCA2	c.2947C>T	NM_000059.4	NP_000050.3:p.(Pro983Ser)	NC_000013.10:g.32911439C>T	(Likely) benign	1 lab	be32b1bf46
14:23865978 MYH6 A>G	14	23865978	23865978	A	G	MYH6	c.2217T>C	NM_002471.4	NP_002462.2:p.(Asp739=)	NC_000014.8:g.23865978A>G	(Likely) benign	1 lab	be33cbe721
2:179455501 TTN C>T	2	179455501	179455501	C	T	TTN	c.60951G>A	NM_001267550.2	NP_001254479.2:p.(Trp20317Ter)	NC_000002.11:g.179455501C>T	(Likely) pathogenic	1 lab	be36d0e803
13:48936983 RB1 C>T	13	48936983	48936983	C	T	RB1	c.751C>T	NM_000321.3	NP_000312.2:p.(Arg251Ter)	NC_000013.10:g.48936983C>T	(Likely) pathogenic	1 lab	be3849943d
14:24736916 RABGGTA C>T	14	24736916	24736916	C	T	RABGGTA	c.1303G>A	NM_182836.3	NP_878256.1:p.(Val435Met)	NC_000014.8:g.24736916C>T	VUS	1 lab	be3b544387
3:37083800 MLH1 A>G	3	37083800	37083800	A	G	MLH1	c.1709A>G	NM_000249.4	NP_000240.1:p.(Asn570Ser)	NC_000003.11:g.37083800A>G	VUS	1 lab	be416809d1
15:48782203 FBN1 C>T	15	48782203	48782203	C	T	FBN1	c.2927G>A	NM_000138.5	NP_000129.3:p.(Arg976His)	NC_000015.9:g.48782203C>T	VUS	1 lab	be43a68350
16:16272670 ABCC6 T>C	16	16272670	16272670	T	C	ABCC6	c.2400A>G	NM_001171.6	NP_001162.5:p.(Gly800=)	NC_000016.9:g.16272670T>C	(Likely) benign	1 lab	be44e85f89
17:41244810 BRCA1 T>C	17	41244810	41244810	T	C	BRCA1	c.2738A>G	NM_007294.4	NP_009225.1:p.(Asn913Ser)	NC_000017.10:g.41244810T>C	VUS	1 lab	be488ca5c3
22:42458928 NAGA C>T	22	42458928	42458928	C	T	NAGA	c.860G>A	NM_000262.3	NP_000253.1:p.(Arg287His)	NC_000022.10:g.42458928C>T	VUS	1 lab	be4c46e86c
20:22563088 FOXA2 C>A	20	22563088	22563088	C	A	FOXA2	c.792G>T	NM_021784.5	NP_068556.2:p.(Glu264Asp)	NC_000020.10:g.22563088C>A	VUS	1 lab	be4cb4e3b6
15:48757863 FBN1 C>T	15	48757863	48757863	C	T	FBN1	c.4844G>A	NM_000138.5	NP_000129.3:p.(Gly1615Glu)	NC_000015.9:g.48757863C>T	VUS	1 lab	be4da82a06
1:103488386 COL11A1 T>C	1	103488386	103488386	T	C	COL11A1	c.1157A>G	NM_001854.4	NP_001845.3:p.(Tyr386Cys)	NC_000001.10:g.103488386T>C	VUS	1 lab	be4eeb8895
7:151478497 PRKAG2 C>A	7	151478497	151478497	C	A	PRKAG2	c.207G>T	NM_016203.4	NP_057287.2:p.(Pro69=)	NC_000007.13:g.151478497C>A	(Likely) benign	1 lab	be4f88253a
6:32634302 HLA-DQB1 A>G	6	32634302	32634302	A	G	HLA-DQB1	c.83T>C	NM_001243961.2	NP_001230890.1:p.(Leu28Pro)	NC_000006.11:g.32634302A>G	(Likely) benign	1 lab	be514b90c7
1:17601181 PADI3 G>C	1	17601181	17601181	G	C	PADI3	c.1207G>C	NM_016233.2	NP_057317.2:p.(Gly403Arg)	NC_000001.10:g.17601181G>C	VUS	1 lab	be548fe407
X:31196901 DMD G>A	X	31196901	31196901	G	A	DMD	c.10108C>T	NM_004006.3	NP_003997.2:p.(Arg3370Ter)	NC_000023.10:g.31196901G>A	(Likely) pathogenic	1 lab	be57d2f9b3
12:52911493 KRT5 G>A	12	52911493	52911493	G	A	KRT5	c.973C>T	NM_000424.4	NP_000415.2:p.(Leu325Phe)	NC_000012.11:g.52911493G>A	(Likely) pathogenic	1 lab	be5d48e68c
X:48887875 TFE3 C>T	X	48887875	48887875	C	T	TFE3	c.1522G>A	NM_006521.6	NP_006512.2:p.(Asp508Asn)	NC_000023.10:g.48887875C>T	VUS	1 lab	be5dda008d
16:31470787 ARMC5 A>G	16	31470787	31470787	A	G	ARMC5	c.-59A>G	NM_024742.2	NP_079018.1:p.?	NC_000016.9:g.31470787A>G	VUS	1 lab	be65c385ab
11:108137897 ATM G>T	11	108137897	108137897	G	T	ATM	c.2467-1G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108137897G>T	VUS	1 lab	be6b254ab0
6:7568013 DSP G>GT	6	7568013	7568019	G	GT	DSP	c.1146dup	NM_004415.4	NP_004406.2:p.(Glu383Ter)	NC_000006.11:g.7568019dup	(Likely) pathogenic	1 lab	be6d153366
10:120931937 PRDX3 G>C	10	120931937	120931937	G	C	PRDX3	c.508C>G	NM_006793.5	NP_006784.1:p.(Arg170Gly)	NC_000010.10:g.120931937G>C	VUS	1 lab	be6e04f82f
19:13319691 CACNA1A G>A	19	13319691	13319691	G	A	CACNA1A	c.6662C>T	NM_001127221.2	NP_001120693.1:p.(Pro2221Leu)	NC_000019.9:g.13319691G>A	VUS	1 lab	be6fefb301
11:17793573 KCNC1 G>A	11	17793573	17793573	G	A	KCNC1	c.932G>A	NM_001112741.2	NP_001106212.1:p.(Arg311His)	NC_000011.9:g.17793573G>A	VUS	1 lab	be72422059
3:47890245 DHX30 G>A	3	47890245	47890245	G	A	DHX30	c.2707G>A	NM_138615.3	NP_619520.1:p.(Val903Ile)	NC_000003.11:g.47890245G>A	VUS	1 lab	be759bc25e
15:52667502 MYO5A T>C	15	52667502	52667502	T	C	MYO5A	c.2576A>G	NM_000259.3	NP_000250.3:p.(Lys859Arg)	NC_000015.9:g.52667502T>C	VUS	1 lab	be7ad1169e
2:228564063 SLC19A3 T>C	2	228564063	228564063	T	C	SLC19A3	c.368A>G	NM_025243.4	NP_079519.1:p.(Tyr123Cys)	NC_000002.11:g.228564063T>C	VUS	1 lab	be7d827e69
6:157100525 ARID1B C>T	6	157100525	157100525	C	T	ARID1B	c.1711C>T	NM_001371656.1	NP_001358585.1:p.(Pro571Ser)	NC_000006.11:g.157100525C>T	VUS	1 lab	be7f69fc36
X:152827678 ATP2B3 T>C	X	152827678	152827678	T	C	ATP2B3	c.3137T>C	NM_001001344.2	NP_001001344.1:p.(Val1046Ala)	NC_000023.10:g.152827678T>C	VUS	1 lab	be817d2e49
1:10678488 PEX14 A>T	1	10678488	10678488	A	T	PEX14	c.384+14A>T	NM_004565.3	NP_004556.1:p.?	NC_000001.10:g.10678488A>T	(Likely) benign	1 lab	be824ab25e
14:100706084 YY1 G>GA	14	100706084	100706085	G	GA	YY1	c.504dup	NM_003403.5	NP_003394.1:p.(Gly169ArgfsTer60)	NC_000014.8:g.100706085dup	(Likely) pathogenic	1 lab	be829637e4
2:166848146 SCN1A C>T	2	166848146	166848146	C	T	SCN1A	c.5639G>A	NM_001165963.4	NP_001159435.1:p.(Gly1880Glu)	NC_000002.11:g.166848146C>T	VUS	1 lab	be87f0f960
2:179615958 TTN C>T	2	179615958	179615958	C	T	TTN	c.11169G>A	NM_133379.5	NP_596870.2:p.(Thr3723=)	NC_000002.11:g.179615958C>T	(Likely) benign	1 lab	be8b31073b
16:30715608 SRCAP A>G	16	30715608	30715608	A	G	SRCAP	c.278A>G	NM_006662.3	NP_006653.2:p.(His93Arg)	NC_000016.9:g.30715608A>G	(Likely) benign	1 lab	be8d57a83c
18:21487540 LAMA3 C>T	18	21487540	21487540	C	T	LAMA3	c.6745C>T	NM_198129.4	NP_937762.2:p.(Gln2249Ter)	NC_000018.9:g.21487540C>T	(Likely) pathogenic	1 lab	be8dc6e50a
12:116434991 MED13L C>T	12	116434991	116434991	C	T	MED13L	c.2614G>A	NM_015335.5	NP_056150.1:p.(Glu872Lys)	NC_000012.11:g.116434991C>T	(Likely) pathogenic	1 lab	be8fd178be
2:179424266 TTN A>G	2	179424266	179424266	A	G	TTN	c.86593T>C	NM_001267550.2	NP_001254479.2:p.(Ser28865Pro)	NC_000002.11:g.179424266A>G	VUS	1 lab	be94b0ca04
X:48660353 HDAC6 T>C	X	48660353	48660353	T	C	HDAC6	c.12+2T>C	NM_001321225.2	NP_001308154.1:p.?	NC_000023.10:g.48660353T>C	VUS	1 lab	be96e6f729
12:46243502 ARID2 A>C	12	46243502	46243502	A	C	ARID2	c.1855A>C	NM_152641.4	NP_689854.2:p.(Thr619Pro)	NC_000012.11:g.46243502A>C	VUS	1 lab	bea109242b
6:26157172 H1-4 C>T	6	26157172	26157172	C	T	H1-4	c.554C>T	NM_005321.3	NP_005312.1:p.(Pro185Leu)	NC_000006.11:g.26157172C>T	VUS	1 lab	bea319e10e
3:71037173 FOXP1 GA>G	3	71037173	71037174	GA	G	FOXP1	c.1117del	NM_001244808.3	NP_001231737.1:p.(Ser373LeufsTer11)	NC_000003.11:g.71037174del	(Likely) pathogenic	1 lab	bea3430641
4:85676433 WDFY3 T>C	4	85676433	85676433	T	C	WDFY3	c.5545A>G	NM_014991.6	NP_055806.2:p.(Ser1849Gly)	NC_000004.11:g.85676433T>C	(Likely) benign	1 lab	bea3f7377d
16:773341 CCDC78 G>A	16	773341	773341	G	A	CCDC78	c.1134-180C>T	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.773341G>A	(Likely) benign	1 lab	bea92fb9a5
2:166859020 SCN1A C>T	2	166859020	166859020	C	T	SCN1A	c.4246G>A	NM_001165963.4	NP_001159435.1:p.(Asp1416Asn)	NC_000002.11:g.166859020C>T	VUS	1 lab	beae391423
1:244218078 ZBTB18 G>C	1	244218078	244218078	G	C	ZBTB18	c.1002G>C	NM_205768.3	NP_991331.1:p.(Glu334Asp)	NC_000001.10:g.244218078G>C	VUS	1 lab	beb23bcef0
22:19885600 TXNRD2 T>G	22	19885600	19885600	T	G	TXNRD2	c.736A>C	NM_006440.5	NP_006431.2:p.(Ile246Leu)	NC_000022.10:g.19885600T>G	VUS	1 lab	beb2f9baec
12:108954823 SART3 C>T	12	108954823	108954823	C	T	SART3	c.108G>A	NM_014706.4	NP_055521.1:p.(Arg36=)	NC_000012.11:g.108954823C>T	(Likely) benign	1 lab	beb470ee40
5:37017111 NIPBL T>G	5	37017111	37017111	T	G	NIPBL	c.4777-10T>G	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37017111T>G	(Likely) benign	1 lab	beba78c955
2:179604719 TTN A>C	2	179604719	179604719	A	C	TTN	c.13241T>G	NM_001267550.2	NP_001254479.2:p.(Leu4414Arg)	NC_000002.11:g.179604719A>C	VUS	1 lab	bebf571a96
4:170601293 CLCN3 TATG>T	4	170601293	170601301	TATG	T	CLCN3	c.259_261del	NM_173872.4	NP_776297.2:p.(Asp87del)	NC_000004.11:g.170601299_170601301del	VUS	1 lab	bebf6211ab
9:134467578 RAPGEF1 GA>G	9	134467578	134467584	GA	G	RAPGEF1	c.2186-9del	NM_198679.2	NP_941372.1:p.?	NC_000009.11:g.134467584del	(Likely) benign	1 lab	bebfcebcee
13:32911442 BRCA2 G>GA	13	32911442	32911449	G	GA	BRCA2	c.2957dup	NM_000059.4	NP_000050.3:p.(Asn986LysfsTer2)	NC_000013.10:g.32911449dup	(Likely) pathogenic	1 lab	bec5a183ca
6:157522005 ARID1B C>A	6	157522005	157522005	C	A	ARID1B	c.4526C>A	NM_001371656.1	NP_001358585.1:p.(Pro1509His)	NC_000006.11:g.157522005C>A	VUS	1 lab	bec71db229
2:189864075 COL3A1 G>A	2	189864075	189864075	G	A	COL3A1	c.2087G>A	NM_000090.4	NP_000081.2:p.(Gly696Asp)	NC_000002.11:g.189864075G>A	(Likely) pathogenic	1 lab	bec728e410
5:256508 SDHA C>T	5	256508	256508	C	T	SDHA	c.1968C>T	NM_004168.4	NP_004159.2:p.(Thr656=)	NC_000005.9:g.256508C>T	(Likely) benign	1 lab	bed06e1d30
13:33635835 KL T>C	13	33635835	33635835	T	C	KL	c.2619T>C	NM_004795.4	NP_004786.2:p.(Asn873=)	NC_000013.10:g.33635835T>C	(Likely) benign	1 lab	bed27598f0
15:28491957 HERC2 C>T	15	28491957	28491957	C	T	HERC2	c.3322G>A	NM_004667.6	NP_004658.3:p.(Ala1108Thr)	NC_000015.9:g.28491957C>T	VUS	1 lab	bed3a825e5
13:49033825 RB1 G>GT	13	49033825	49033826	G	GT	RB1	c.1963dup	NM_000321.3	NP_000312.2:p.(Tyr655LeufsTer13)	NC_000013.10:g.49033826dup	(Likely) pathogenic	1 lab	bed4e18638
10:50740930 ERCC6 T>A	10	50740930	50740930	T	A	ERCC6	c.81A>T	NM_001277058.2	NP_001263987.1:p.(Glu27Asp)	NC_000010.10:g.50740930T>A	VUS	1 lab	bed5ea7edc
1:98205947 DPYD C>T	1	98205947	98205947	C	T	DPYD	c.321+1G>A	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.98205947C>T	(Likely) pathogenic	1 lab	bed99cdfe8
9:138649052 KCNT1 C>G	9	138649052	138649052	C	G	KCNT1	c.651C>G	NM_020822.3	NP_065873.2:p.(Ile217Met)	NC_000009.11:g.138649052C>G	VUS	1 lab	bedc21f27a
5:122522846 PRDM6 A>T	5	122522846	122522846	A	T	PRDM6	c.1739A>T	NM_001136239.4	NP_001129711.1:p.(Asn580Ile)	NC_000005.9:g.122522846A>T	VUS	1 lab	bedd0489d6
19:13409580 CACNA1A C>A	19	13409580	13409580	C	A	CACNA1A	c.2867G>T	NM_001127222.2	NP_001120694.1:p.(Arg956Leu)	NC_000019.9:g.13409580C>A	(Likely) benign	1 lab	bedea388e5
19:1226498 STK11 G>C	19	1226498	1226498	G	C	STK11	c.1154G>C	NM_000455.5	NP_000446.1:p.(Gly385Ala)	NC_000019.9:g.1226498G>C	(Likely) benign	1 lab	bee63079ec
22:29121274 CHEK2 T>C	22	29121274	29121274	T	C	CHEK2	c.401A>G	NM_007194.4	NP_009125.1:p.(Asp134Gly)	NC_000022.10:g.29121274T>C	VUS	1 lab	bee7fb04ca
16:89347224 ANKRD11 G>C	16	89347224	89347224	G	C	ANKRD11	c.5726C>G	NM_013275.6	NP_037407.4:p.(Pro1909Arg)	NC_000016.9:g.89347224G>C	VUS	1 lab	bef0e6b9da
19:13394202 CACNA1A C>T	19	13394202	13394202	C	T	CACNA1A	c.3704G>A	NM_001127221.2	NP_001120693.1:p.(Arg1235His)	NC_000019.9:g.13394202C>T	(Likely) benign	1 lab	bef10574f3
11:108205709 ATM G>A	11	108205709	108205709	G	A	ATM	c.8024G>A	NM_000051.4	NP_000042.3:p.(Gly2675Glu)	NC_000011.9:g.108205709G>A	VUS	1 lab	bef2e1c11f
7:91667692 AKAP9 T>G	7	91667692	91667692	T	G	AKAP9	c.4339-41T>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91667692T>G	(Likely) benign	1 lab	bef8778e5c
1:237711878 RYR2 T>C	1	237711878	237711878	T	C	RYR2	c.3054T>C	NM_001035.3	NP_001026.2:p.(Tyr1018=)	NC_000001.10:g.237711878T>C	(Likely) benign	1 lab	bef879d2ee
X:71708782 HDAC8 C>T	X	71708782	71708782	C	T	HDAC8	c.737+1G>A	NM_001166419.2	NP_001159891.1:p.?	NC_000023.10:g.71708782C>T	(Likely) pathogenic	1 lab	bef94c831a
22:23524386 BCR C>G	22	23524386	23524386	C	G	BCR	c.1239C>G	NM_004327.4	NP_004318.3:p.(Ile413Met)	NC_000022.10:g.23524386C>G	VUS	1 lab	bf003240e8
5:6633042 NSUN2 C>T	5	6633042	6633042	C	T	NSUN2	c.51G>A	NM_017755.6	NP_060225.4:p.(Glu17=)	NC_000005.9:g.6633042C>T	(Likely) benign	1 lab	bf041615ff
5:137523041 KIF20A G>A	5	137523041	137523041	G	A	KIF20A	c.2612G>A	NM_005733.3	NP_005724.1:p.(Arg871Gln)	NC_000005.9:g.137523041G>A	VUS	1 lab	bf050c4f86
3:126218167 UROC1 G>A	3	126218167	126218167	G	A	UROC1	c.1496+13C>T	NM_001165974.2	NP_001159446.1:p.?	NC_000003.11:g.126218167G>A	(Likely) benign	1 lab	bf0b0f5451
15:54008889 WDR72 GA>G	15	54008889	54008891	GA	G	WDR72	c.261-8del	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.54008891del	(Likely) benign	1 lab	bf0c069c5c
7:140494106 BRAF A>T	7	140494106	140494106	A	T	BRAF	c.1140+2T>A	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140494106A>T	VUS	1 lab	bf0c5fe4e6
6:38893916 DNAH8 C>T	6	38893916	38893916	C	T	DNAH8	c.11048C>T	NM_001206927.2	NP_001193856.1:p.(Pro3683Leu)	NC_000006.11:g.38893916C>T	VUS	1 lab	bf0c680a48
2:20205504 MATN3 C>A	2	20205504	20205504	C	A	MATN3	c.790+1G>T	NM_002381.5	NP_002372.1:p.?	NC_000002.11:g.20205504C>A	VUS	1 lab	bf2b965c69
13:60737818 DIAPH3 C>T	13	60737818	60737818	C	T	DIAPH3	c.83G>A	NM_001042517.2	NP_001035982.1:p.(Arg28His)	NC_000013.10:g.60737818C>T	(Likely) benign	1 lab	bf103e98c5
14:37132243 PAX9 C>T	14	37132243	37132243	C	T	PAX9	c.146C>T	NM_006194.4	NP_006185.1:p.(Ser49Leu)	NC_000014.8:g.37132243C>T	(Likely) pathogenic	1 lab	bf106b72da
12:80222155 PPP1R12A T>G	12	80222155	80222155	T	G	PPP1R12A	c.737A>C	NM_002480.3	NP_002471.1:p.(Glu246Ala)	NC_000012.11:g.80222155T>G	(Likely) pathogenic	1 lab	bf119d3d3c
3:130660487 ATP2C1 G>T	3	130660487	130660487	G	T	ATP2C1	c.475G>T	NM_014382.5	NP_055197.2:p.(Asp159Tyr)	NC_000003.11:g.130660487G>T	(Likely) pathogenic	1 lab	bf120cc534
20:42815053 JPH2 T>C	20	42815053	42815053	T	C	JPH2	c.293A>G	NM_020433.5	NP_065166.2:p.(Gln98Arg)	NC_000020.10:g.42815053T>C	VUS	1 lab	bf14190886
22:21346042 LZTR1 C>T	22	21346042	21346042	C	T	LZTR1	c.917C>T	NM_006767.4	NP_006758.2:p.(Thr306Met)	NC_000022.10:g.21346042C>T	VUS	1 lab	bf1a736b47
7:94248181 SGCE A>G	7	94248181	94248181	A	G	SGCE	c.551T>C	NM_001099401.2	NP_001092871.1:p.(Leu184Pro)	NC_000007.13:g.94248181A>G	(Likely) pathogenic	1 lab	bf1c819000
20:57429934 GNAS C>T	20	57429934	57429934	C	T	GNAS	c.1427C>T	NM_001077490.3	NP_001070958.1:p.(Pro476Leu)	NC_000020.10:g.57429934C>T	VUS	1 lab	bf249a64a2
X:110966066 ALG13 A>G	X	110966066	110966066	A	G	ALG13	c.1481A>G	NM_001099922.3	NP_001093392.1:p.(Tyr494Cys)	NC_000023.10:g.110966066A>G	VUS	1 lab	bf253db38b
11:46751078 F2 C>T	11	46751078	46751078	C	T	F2	c.1621C>T	NM_000506.5	NP_000497.1:p.(Arg541Trp)	NC_000011.9:g.46751078C>T	(Likely) pathogenic	1 lab	bf2648c145
X:153130631 L1CAM G>T	X	153130631	153130631	G	T	L1CAM	c.2784C>A	NM_000425.5	NP_000416.1:p.(Cys928Ter)	NC_000023.10:g.153130631G>T	(Likely) pathogenic	1 lab	bf2803bdb5
2:152955518 CACNB4 G>A	2	152955518	152955518	G	A	CACNB4	c.8C>T	NM_000726.5	NP_000717.2:p.(Ser3Phe)	NC_000002.11:g.152955518G>A	(Likely) benign	1 lab	bf2e0ab30b
1:36564171 COL8A2 T>A	1	36564171	36564171	T	A	COL8A2	c.1111A>T	NM_005202.4	NP_005193.1:p.(Arg371Ter)	NC_000001.10:g.36564171T>A	VUS	1 lab	bf2edd2e22
16:31008054 STX1B CTT>C	16	31008054	31008056	CTT	C	STX1B	c.485_486del	NM_052874.5	NP_443106.1:p.(Glu162GlyfsTer17)	NC_000016.9:g.31008055_31008056del	(Likely) pathogenic	1 lab	bf2eef3090
2:56145384 EFEMP1 CAT>C	2	56145384	56145388	CAT	C	EFEMP1	c.98_99del	NM_001039348.3	NP_001034437.1:p.(Tyr33Ter)	NC_000002.11:g.56145387_56145388del	(Likely) pathogenic	1 lab	bf2f3aa839
7:94027054 COL1A2 C>A	7	94027054	94027054	C	A	COL1A2	c.71-6C>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027054C>A	(Likely) benign	1 lab	bf347b92f5
X:48759204 PQBP1 C>T	X	48759204	48759204	C	T	PQBP1	c.180-3C>T	NM_005710.2	NP_005701.1:p.?	NC_000023.10:g.48759204C>T	(Likely) benign	1 lab	bf35ee508b
9:32526163 RIGI A>C	9	32526163	32526163	A	C	RIGI	c.2T>G	NM_014314.4	NP_055129.2:p.(Met1?)	NC_000009.11:g.32526163A>C	VUS	1 lab	bf3c1e8b18
5:33998883 AMACR A>G	5	33998883	33998883	A	G	AMACR	c.602T>C	NM_014324.6	NP_055139.4:p.(Leu201Ser)	NC_000005.9:g.33998883A>G	(Likely) benign	1 lab	bf40efacf2
2:179431523 TTN G>A	2	179431523	179431523	G	A	TTN	c.79336C>T	NM_001267550.2	NP_001254479.2:p.(Leu26446=)	NC_000002.11:g.179431523G>A	(Likely) pathogenic	1 lab	bf411c3e75
10:1149761 WDR37 G>A	10	1149761	1149761	G	A	WDR37	c.946G>A	NM_014023.4	NP_054742.2:p.(Val316Ile)	NC_000010.10:g.1149761G>A	(Likely) benign	1 lab	bf45ee7ac3
15:96880793 NR2F2 T>A	15	96880793	96880793	T	A	NR2F2	c.1187T>A	NM_021005.4	NP_066285.1:p.(Ile396Asn)	NC_000015.9:g.96880793T>A	(Likely) pathogenic	1 lab	bf47a0b650
11:2191979 TH T>G	11	2191979	2191979	T	G	TH	c.124A>C	NM_199292.3	NP_954986.2:p.(Thr42Pro)	NC_000011.9:g.2191979T>G	VUS	1 lab	bf486ac734
3:130653572 ATP2C1 A>G	3	130653572	130653572	A	G	ATP2C1	c.324+17A>G	NM_001199179.3	NP_001186108.1:p.?	NC_000003.11:g.130653572A>G	(Likely) benign	1 lab	bf4a101985
20:10623210 JAG1 G>A	20	10623210	10623210	G	A	JAG1	c.2498C>T	NM_000214.3	NP_000205.1:p.(Ala833Val)	NC_000020.10:g.10623210G>A	VUS	1 lab	bf50117a14
5:98232997 CHD1 C>A	5	98232997	98232997	C	A	CHD1	c.1393G>T	NM_001270.4	NP_001261.2:p.(Ala465Ser)	NC_000005.9:g.98232997C>A	VUS	1 lab	bf507d8de6
3:50513593 CACNA2D2 C>T	3	50513593	50513593	C	T	CACNA2D2	c.244G>A	NM_006030.4	NP_006021.2:p.(Asp82Asn)	NC_000003.11:g.50513593C>T	VUS	1 lab	bf52cf910d
6:56458700 DST C>T	6	56458700	56458700	C	T	DST	c.6130G>A	NM_001144769.5	NP_001138241.1:p.(Gly2044Ser)	NC_000006.11:g.56458700C>T	VUS	1 lab	bf5552bbba
13:32937354 BRCA2 T>TA	13	32937354	32937360	T	TA	BRCA2	c.8021dup	NM_000059.4	NP_000050.3:p.(Ile2675AspfsTer6)	NC_000013.10:g.32937360dup	(Likely) pathogenic	1 lab	bf58d7bc95
2:179419243 TTN C>T	2	179419243	179419243	C	T	TTN	c.88831G>A	NM_001267550.2	NP_001254479.2:p.(Val29611Met)	NC_000002.11:g.179419243C>T	VUS	1 lab	bf593a89a4
7:128481391 FLNC G>A	7	128481391	128481391	G	A	FLNC	c.1981G>A	NM_001458.5	NP_001449.3:p.(Ala661Thr)	NC_000007.13:g.128481391G>A	VUS	1 lab	bf5a07c6f2
6:51948051 PKHD1 G>A	6	51948051	51948051	G	A	PKHD1	c.55C>T	NM_138694.4	NP_619639.3:p.(Arg19Cys)	NC_000006.11:g.51948051G>A	VUS	1 lab	bf5a3ea286
1:33487300 AK2 C>A	1	33487300	33487300	C	A	AK2	c.224G>T	NM_001625.4	NP_001616.1:p.(Ser75Ile)	NC_000001.10:g.33487300C>A	VUS	1 lab	bf5c5bdb4a
19:8615155 MYO1F C>G	19	8615155	8615155	C	G	MYO1F	c.990G>C	NM_012335.4	NP_036467.2:p.(Trp330Cys)	NC_000019.9:g.8615155C>G	VUS	1 lab	bf5f5e1d51
19:13323033 CACNA1A G>A	19	13323033	13323033	G	A	CACNA1A	c.6190-3C>T	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13323033G>A	(Likely) benign	1 lab	bf614d0b60
1:8022901 PARK7 C>T	1	8022901	8022901	C	T	PARK7	c.56C>T	NM_007262.5	NP_009193.2:p.(Thr19Met)	NC_000001.10:g.8022901C>T	VUS	1 lab	bf62226193
2:179610538 TTN G>A	2	179610538	179610538	G	A	TTN	c.16589C>T	NM_133379.5	NP_596870.2:p.(Ala5530Val)	NC_000002.11:g.179610538G>A	VUS	1 lab	bf683b1728
16:89351590 ANKRD11 C>T	16	89351590	89351590	C	T	ANKRD11	c.1360G>A	NM_013275.6	NP_037407.4:p.(Val454Met)	NC_000016.9:g.89351590C>T	(Likely) benign	1 lab	bf6b7af032
9:71855043 TJP2 C>T	9	71855043	71855043	C	T	TJP2	c.2546C>T	NM_004817.4	NP_004808.2:p.(Thr849Met)	NC_000009.11:g.71855043C>T	VUS	1 lab	bf6c086b41
17:58740500 PPM1D A>G	17	58740500	58740500	A	G	PPM1D	c.1405A>G	NM_003620.4	NP_003611.1:p.(Lys469Glu)	NC_000017.10:g.58740500A>G	(Likely) benign	1 lab	bf6fe9dc50
2:166901591 SCN1A G>A	2	166901591	166901591	G	A	SCN1A	c.1624C>T	NM_001165963.4	NP_001159435.1:p.(Arg542Ter)	NC_000002.11:g.166901591G>A	(Likely) pathogenic	1 lab	bf705eff12
1:236906332 ACTN2 C>G	1	236906332	236906332	C	G	ACTN2	c.620C>G	NM_001278344.2	NP_001265273.1:p.(Thr207Ser)	NC_000001.10:g.236906332C>G	VUS	1 lab	bf72894308
2:201950166 NDUFB3 C>CT	2	201950166	201950177	C	CT	NDUFB3	c.141-5dup	NM_001257102.2	NP_001244031.1:p.?	NC_000002.11:g.201950177dup	(Likely) benign	1 lab	bf73895790
2:179481289 TTN C>A	2	179481289	179481289	C	A	TTN	c.48229G>T	NM_001267550.2	NP_001254479.2:p.(Glu16077Ter)	NC_000002.11:g.179481289C>A	(Likely) pathogenic	1 lab	bf75dbcc82
1:209803115 LAMB3 G>T	1	209803115	209803115	G	T	LAMB3	c.1099C>A	NM_000228.3	NP_000219.2:p.(Arg367Ser)	NC_000001.10:g.209803115G>T	VUS	1 lab	bf77bb4ce5
1:120458866 NOTCH2 T>C	1	120458866	120458866	T	C	NOTCH2	c.6479A>G	NM_024408.4	NP_077719.2:p.(Tyr2160Cys)	NC_000001.10:g.120458866T>C	(Likely) benign	1 lab	bf78cdeb56
9:140611162 EHMT1 C>G	9	140611162	140611162	C	G	EHMT1	c.170C>G	NM_024757.5	NP_079033.4:p.(Ser57Cys)	NC_000009.11:g.140611162C>G	VUS	1 lab	bf85bee272
16:8995013 USP7 A>G	16	8995013	8995013	A	G	USP7	c.1829T>C	NM_001286458.2	NP_001273387.1:p.(Ile610Thr)	NC_000016.9:g.8995013A>G	VUS	1 lab	bf86d363cb
1:45288983 PTCH2 G>A	1	45288983	45288983	G	A	PTCH2	c.3189C>T	NM_001166292.2	NP_001159764.1:p.(Thr1063=)	NC_000001.10:g.45288983G>A	(Likely) benign	1 lab	bf88447bf8
2:84846931 DNAH6 T>G	2	84846931	84846931	T	G	DNAH6	c.3695T>G	NM_001370.2	NP_001361.1:p.(Met1232Arg)	NC_000002.11:g.84846931T>G	VUS	1 lab	bf8c26062d
9:135772999 TSC1 TG>T	9	135772999	135773000	TG	T	TSC1	c.2626-3del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773000del	(Likely) benign	1 lab	bf931f42e9
2:179411990 TTN GACAC>G	2	179411990	179411995	GACAC	G	TTN	c.94258_94261del	NM_001267550.2	NP_001254479.2:p.(Val31420LeufsTer36)	NC_000002.11:g.179411992_179411995del	(Likely) pathogenic	1 lab	bf9afdcf2b
1:17313157 ATP13A2 G>A	1	17313157	17313157	G	A	ATP13A2	c.3236-30C>T	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17313157G>A	(Likely) benign	1 lab	bfa9221f7f
2:179542499 TTN TTCAGGTAGAACTTCCTCTTCC>T	2	179542499	179542561	TTCAGGTAGAACTTCCTCTTCC	T	TTN	c.34119_34139del	NM_001267550.2	NP_001254479.2:p.(Val11384_Glu11390del)	NC_000002.11:g.179542541_179542561del	(Likely) benign	1 lab	bfaa8f5c32
19:11200127 LDLR C>T	19	11200127	11200127	C	T	LDLR				NC_000019.9:g.11200127C>T	VUS	1 lab	bfabb22b16
2:178936373 PDE11A T>G	2	178936373	178936373	T	G	PDE11A	c.792A>C	NM_016953.4	NP_058649.3:p.(Thr264=)	NC_000002.11:g.178936373T>G	(Likely) benign	1 lab	bfae80fa68
12:52714801 KRT83 C>T	12	52714801	52714801	C	T	KRT83	c.319G>A	NM_002282.3	NP_002273.3:p.(Val107Met)	NC_000012.11:g.52714801C>T	VUS	1 lab	bfaf2634cd
6:111136257 CDK19 C>T	6	111136257	111136257	C	T	CDK19	c.83G>A	NM_001300960.2	NP_001287889.1:p.(Gly28Glu)	NC_000006.11:g.111136257C>T	(Likely) pathogenic	1 lab	bfb2e98f8d
12:57957931 KIF5A G>C	12	57957931	57957931	G	C	KIF5A	c.332G>C	NM_004984.4	NP_004975.2:p.(Arg111Pro)	NC_000012.11:g.57957931G>C	VUS	1 lab	bfb8a2b76b
9:2161752 SMARCA2 A>G	9	2161752	2161752	A	G	SMARCA2	c.4048A>G	NM_003070.5	NP_003061.3:p.(Arg1350Gly)	NC_000009.11:g.2161752A>G	VUS	1 lab	bfbc03535f
16:89245941 CDH15 G>A	16	89245941	89245941	G	A	CDH15	c.160G>A	NM_004933.3	NP_004924.1:p.(Val54Ile)	NC_000016.9:g.89245941G>A	(Likely) benign	1 lab	bfbde3631e
18:55238702 FECH C>T	18	55238702	55238702	C	T	FECH	c.403G>A	NM_001012515.4	NP_001012533.1:p.(Gly135Arg)	NC_000018.9:g.55238702C>T	VUS	1 lab	bfbe7bb934
6:118028138 NUS1 T>G	6	118028138	118028138	T	G	NUS1	c.842T>G	NM_138459.5	NP_612468.1:p.(Leu281Arg)	NC_000006.11:g.118028138T>G	VUS	1 lab	bfc38d0bae
21:32617947 TIAM1 C>T	21	32617947	32617947	C	T	TIAM1	c.1441G>A	NM_003253.3	NP_003244.2:p.(Gly481Ser)	NC_000021.8:g.32617947C>T	VUS	1 lab	bfc94251e3
3:128204612 GATA2 T>C	3	128204612	128204612	T	C	GATA2	c.829A>G	NM_001145661.2	NP_001139133.1:p.(Ser277Gly)	NC_000003.11:g.128204612T>C	(Likely) benign	1 lab	bfc9c365b3
12:122064770 ORAI1 GG>GG	12	122064770	122064771	GG	GG	ORAI1	c.123_124=	NM_032790.3	NP_116179.2:p.(Gly41_Ala42=)	NC_000012.11:g.122064770_122064771=	(Likely) benign	1 lab	bfcf8d6ada
11:62299449 AHNAK T>C	11	62299449	62299449	T	C	AHNAK	c.2440A>G	NM_001620.3	NP_001611.1:p.(Lys814Glu)	NC_000011.9:g.62299449T>C	VUS	1 lab	bff428ef7c
9:73458045 TRPM3 T>TAA	9	73458045	73458055	T	TAA	TRPM3	c.218-4_218-3dup	NM_020952.6	NP_066003.3:p.?	NC_000009.11:g.73458054_73458055dup	(Likely) benign	1 lab	bfd4df4142
10:12129655 DHTKD1 CT>C	10	12129655	12129656	CT	C	DHTKD1	c.645del	NM_018706.7	NP_061176.4:p.(Asp216MetfsTer12)	NC_000010.10:g.12129656del	(Likely) pathogenic	1 lab	bfd5e91cda
9:134020092 NUP214 C>T	9	134020092	134020092	C	T	NUP214	c.1720C>T	NM_005085.4	NP_005076.3:p.(Pro574Ser)	NC_000009.11:g.134020092C>T	(Likely) benign	1 lab	bfdfc45061
2:179454135 TTN G>C	2	179454135	179454135	G	C	TTN	c.62317C>G	NM_001267550.2	NP_001254479.2:p.(Leu20773Val)	NC_000002.11:g.179454135G>C	VUS	1 lab	bfe095c685
3:48508623 TREX1 C>T	3	48508623	48508623	C	T	TREX1	c.569C>T	NM_033629.6	NP_338599.1:p.(Ser190Phe)	NC_000003.11:g.48508623C>T	VUS	1 lab	bfe4712c9e
19:55671090 DNAAF3 TG>T	19	55671090	55671094	TG	T	DNAAF3	c.1002-116del	NM_001256716.2	NP_001243645.1:p.?	NC_000019.9:g.55671094del	(Likely) benign	1 lab	bfe58b3993
16:89613073 SPG7 G>T	16	89613073	89613073	G	T	SPG7	c.1457G>T	NM_003119.4	NP_003110.1:p.(Arg486Leu)	NC_000016.9:g.89613073G>T	VUS	1 lab	bfec6caa1b
16:78420802 WWOX C>A	16	78420802	78420802	C	A	WWOX	c.562C>A	NM_016373.4	NP_057457.1:p.(Arg188Ser)	NC_000016.9:g.78420802C>A	VUS	1 lab	bfeca696d4
11:118898435 SLC37A4 AC>A	11	118898435	118898437	AC	A	SLC37A4	c.527_528=	NM_001164277.2	NP_001157749.1:p.(Cys176=)	NC_000011.9:g.118898437del	(Likely) benign	1 lab	bfedc77916
X:122993609 XIAP C>T	X	122993609	122993609	C	T	XIAP	c.-33+21C>T	NM_001378592.1	NP_001365521.1:p.?	NC_000023.10:g.122993609C>T	(Likely) benign	1 lab	bff0f884a0
17:3433458 TRPV3 G>A	17	3433458	3433458	G	A	TRPV3	c.1105C>T	NM_145068.4	NP_659505.1:p.(Arg369Trp)	NC_000017.10:g.3433458G>A	(Likely) benign	1 lab	bff6575429
5:151202325 GLRA1 C>T	5	151202325	151202325	C	T	GLRA1	c.1259G>A	NM_000171.4	NP_000162.2:p.(Arg420His)	NC_000005.9:g.151202325C>T	(Likely) pathogenic	1 lab	bffaa591f2
17:38975242 KRT10 G>T	17	38975242	38975242	G	T	KRT10	c.1545C>A	NM_000421.5	NP_000412.4:p.(Gly515=)	NC_000017.10:g.38975242G>T	(Likely) benign	1 lab	bffd27615e
17:78082611 GAA G>A	17	78082611	78082611	G	A	GAA	c.1310G>A	NM_000152.5	NP_000143.2:p.(Arg437His)	NC_000017.10:g.78082611G>A	VUS	1 lab	c0010b5a34
11:64572600 MEN1 C>T	11	64572600	64572600	C	T	MEN1	c.1256G>A	NM_130799.2	NP_570711.1:p.(Gly419Asp)	NC_000011.9:g.64572600C>T	VUS	1 lab	c0068e0f86
1:229745867 TAF5L C>T	1	229745867	229745867	C	T	TAF5L	c.233G>A	NM_001025247.2	NP_001020418.1:p.(Arg78Gln)	NC_000001.10:g.229745867C>T	VUS	1 lab	c00c5666b6
14:77493794 IRF2BPL TTGCTGC>T	14	77493794	77493814	TTGCTGC	T	IRF2BPL	c.336_341del	NM_024496.4	NP_078772.1:p.(Gln126_Gln127del)	NC_000014.8:g.77493809_77493814del	(Likely) benign	1 lab	c00c96b628
8:100396528 VPS13B A>G	8	100396528	100396528	A	G	VPS13B	c.2917A>G	NM_017890.5	NP_060360.3:p.(Ser973Gly)	NC_000008.10:g.100396528A>G	VUS	1 lab	c00f7f7aed
2:45169742 SIX3 G>T	2	45169742	45169742	G	T	SIX3	c.499G>T	NM_005413.4	NP_005404.1:p.(Ala167Ser)	NC_000002.11:g.45169742G>T	VUS	1 lab	c011911e3b
21:47408290 COL6A1 G>GA	21	47408290	47408291	G	GA	COL6A1	c.805-708_805-707insA	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47408290_47408291insA	VUS	1 lab	c012d03a1c
6:33415702 SYNGAP1 G>A	6	33415702	33415702	G	A	SYNGAP1	c.3877G>A	NM_006772.3	NP_006763.2:p.(Asp1293Asn)	NC_000006.11:g.33415702G>A	VUS	1 lab	c0178fe65f
14:23858272 MYH6 G>GA	14	23858272	23858273	G	GA	MYH6	c.3979-9_3979-8insT	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858272_23858273insA	(Likely) benign	1 lab	c017e100a9
18:28914021 DSG1 G>T	18	28914021	28914021	G	T	DSG1	c.861G>T	NM_001942.4	NP_001933.2:p.(Leu287Phe)	NC_000018.9:g.28914021G>T	VUS	1 lab	c01a6d6bac
18:34298062 FHOD3 G>A	18	34298062	34298062	G	A	FHOD3	c.2276G>A	NM_025135.5	NP_079411.2:p.(Arg759Gln)	NC_000018.9:g.34298062G>A	VUS	1 lab	c01aee324d
3:48602270 COL7A1 G>A	3	48602270	48602270	G	A	COL7A1	c.8764C>T	NM_000094.4	NP_000085.1:p.(Arg2922Cys)	NC_000003.11:g.48602270G>A	VUS	1 lab	c01f8ce22a
1:39888482 MACF1 C>G	1	39888482	39888482	C	G	MACF1	c.9873C>G	NM_012090.5	NP_036222.3:p.(Ser3291Arg)	NC_000001.10:g.39888482C>G	VUS	1 lab	c0209441df
8:144991316 PLEC C>T	8	144991316	144991316	C	T	PLEC	c.12754G>A	NM_000445.5	NP_000436.2:p.(Gly4252Ser)	NC_000008.10:g.144991316C>T	VUS	1 lab	c026b3e497
17:41244052 BRCA1 CAA>C	17	41244052	41244056	CAA	C	BRCA1	c.3494_3495del	NM_007294.4	NP_009225.1:p.(Phe1165CysfsTer2)	NC_000017.10:g.41244055_41244056del	(Likely) pathogenic	1 lab	c02d0ca1a6
1:109444423 GPSM2 T>G	1	109444423	109444423	T	G	GPSM2	c.809T>G	NM_013296.5	NP_037428.3:p.(Leu270Arg)	NC_000001.10:g.109444423T>G	VUS	1 lab	c0327dacdf
16:2546558 TBC1D24 G>A	16	2546558	2546558	G	A	TBC1D24	c.409G>A	NM_001199107.2	NP_001186036.1:p.(Val137Met)	NC_000016.9:g.2546558G>A	VUS	1 lab	c033a4c3c2
2:58392914 FANCL C>T	2	58392914	58392914	C	T	FANCL	c.651G>A	NM_001114636.1	NP_001108108.1:p.(Trp217Ter)	NC_000002.11:g.58392914C>T	(Likely) pathogenic	1 lab	c033f303b4
12:48371854 COL2A1 C>T	12	48371854	48371854	C	T	COL2A1	c.3050G>A	NM_001844.5	NP_001835.3:p.(Gly1017Asp)	NC_000012.11:g.48371854C>T	(Likely) pathogenic	1 lab	c03673c47c
13:25460428 CPAP A>G	13	25460428	25460428	A	G	CPAP	n.3564T>C	NR_047594.2		NC_000013.10:g.25460428A>G	(Likely) benign	1 lab	c03dae05a9
3:142189021 ATR G>C	3	142189021	142189021	G	C	ATR	c.6226C>G	NM_001184.4	NP_001175.2:p.(Leu2076Val)	NC_000003.11:g.142189021G>C	(Likely) benign	1 lab	c03ec573d7
14:102349640 PPP2R5C A>G	14	102349640	102349640	A	G	PPP2R5C	c.545A>G	NM_001161725.2	NP_001155197.1:p.(Gln182Arg)	NC_000014.8:g.102349640A>G	VUS	1 lab	c04121e6d6
8:11352759 BLK G>A	8	11352759	11352759	G	A	BLK	c.-2+659G>A	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11352759G>A	VUS	1 lab	c0460be7ef
1:33478871 AK2 C>T	1	33478871	33478871	C	T	AK2	c.631G>A	NM_001625.4	NP_001616.1:p.(Asp211Asn)	NC_000001.10:g.33478871C>T	VUS	1 lab	c04625a468
10:95455879 FRA10AC1 95466669>DEL	10	95455879	95466669	95466669	DEL	FRA10AC1				NC_000010.10:g.95455879_95466669del	(Likely) pathogenic	1 lab	c0505e10ae
3:123008720 ADCY5 C>T	3	123008720	123008720	C	T	ADCY5	c.3409G>A	NM_183357.3	NP_899200.1:p.(Asp1137Asn)	NC_000003.11:g.123008720C>T	VUS	1 lab	c0549f12c4
8:141542668 AGO2 C>T	8	141542668	141542668	C	T	AGO2	c.2318G>A	NM_012154.5	NP_036286.2:p.(Arg773His)	NC_000008.10:g.141542668C>T	(Likely) benign	1 lab	c05daa9b5f
19:13445311 CACNA1A G>C	19	13445311	13445311	G	C	CACNA1A	c.1083-4C>G	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13445311G>C	(Likely) benign	1 lab	c060823c18
22:19865895 TXNRD2 A>C	22	19865895	19865895	A	C	TXNRD2	c.1341T>G	NM_006440.5	NP_006431.2:p.(Tyr447Ter)	NC_000022.10:g.19865895A>C	VUS	1 lab	c06111015f
X:153664160 ATP6AP1 A>G	X	153664160	153664160	A	G	ATP6AP1	c.1336A>G	NM_001183.6	NP_001174.2:p.(Met446Val)	NC_000023.10:g.153664160A>G	VUS	1 lab	c063fe4c26
14:73659448 PSEN1 G>A	14	73659448	73659448	G	A	PSEN1	c.645G>A	NM_000021.4	NP_000012.1:p.(Trp215Ter)	NC_000014.8:g.73659448G>A	(Likely) pathogenic	1 lab	c067149b1c
12:52708565 KRT83 A>G	12	52708565	52708565	A	G	KRT83	c.1332T>C	NM_002282.3	NP_002273.3:p.(Asp444=)	NC_000012.11:g.52708565A>G	(Likely) benign	1 lab	c069f7f693
1:183201853 LAMC2 G>A	1	183201853	183201853	G	A	LAMC2	c.2081G>A	NM_005562.3	NP_005553.2:p.(Arg694His)	NC_000001.10:g.183201853G>A	VUS	1 lab	c06d350435
19:42729448 ZNF526 C>T	19	42729448	42729448	C	T	ZNF526	c.893C>T	NM_133444.3	NP_597701.1:p.(Pro298Leu)	NC_000019.9:g.42729448C>T	VUS	1 lab	c06d955282
2:48025913 MSH6 A>G	2	48025913	48025913	A	G	MSH6	c.791A>G	NM_000179.3	NP_000170.1:p.(Glu264Gly)	NC_000002.11:g.48025913A>G	VUS	1 lab	c073c0cc49
17:73751796 ITGB4 GCT>G	17	73751796	73751798	GCT	G	ITGB4	c.4574_4575del	NM_000213.5	NP_000204.3:p.(Ala1525GlyfsTer46)	NC_000017.10:g.73751797_73751798del	(Likely) pathogenic	1 lab	c07895a631
3:9490270 SETD5 C>T	3	9490270	9490270	C	T	SETD5	c.2008C>T	NM_001349451.2	NP_001336380.1:p.(Arg670Ter)	NC_000003.11:g.9490270C>T	(Likely) pathogenic	1 lab	c079f86e9d
17:39726276 KRT9 C>A	17	39726276	39726276	C	A	KRT9	c.726-9G>T	NM_000226.4	NP_000217.2:p.?	NC_000017.10:g.39726276C>A	(Likely) benign	1 lab	c07a40b004
1:8421116 RERE CGGGGGATGCGGT>C	1	8421116	8421129	CGGGGGATGCGGT	C	RERE	c.2439_2450del	NM_012102.4	NP_036234.3:p.(Pro817_Pro820del)	NC_000001.10:g.8421118_8421129del	VUS	1 lab	c07c26b7bf
10:56345303 PCDH15 T>C	10	56345303	56345303	T	C	PCDH15	c.92-57141A>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.56345303T>C	(Likely) benign	1 lab	c07d35e4eb
2:179473578 TTN AG>A	2	179473578	179473580	AG	A	TTN	c.52159del	NM_001267550.2	NP_001254479.2:p.(Leu17387PhefsTer16)	NC_000002.11:g.179473580del	(Likely) pathogenic	1 lab	c0803b24c2
17:73512642 TSEN54 A>T	17	73512642	73512642	A	T	TSEN54	c.1A>T	NM_207346.3	NP_997229.2:p.(Met1?)	NC_000017.10:g.73512642A>T	(Likely) pathogenic	1 lab	c096c8124a
15:43527865 TGM5 G>A	15	43527865	43527865	G	A	TGM5	c.1516C>T	NM_201631.4	NP_963925.2:p.(Gln506Ter)	NC_000015.9:g.43527865G>A	(Likely) pathogenic	1 lab	c09b0194b4
19:50919051 POLD1 G>A	19	50919051	50919051	G	A	POLD1	c.2788G>A	NM_002691.4	NP_002682.2:p.(Ala930Thr)	NC_000019.9:g.50919051G>A	VUS	1 lab	c0a25a1d67
1:27089503 ARID1A A>G	1	27089503	27089503	A	G	ARID1A	c.2459A>G	NM_006015.6	NP_006006.3:p.(Asn820Ser)	NC_000001.10:g.27089503A>G	VUS	1 lab	c0a3657a17
7:128490451 FLNC C>G	7	128490451	128490451	C	G	FLNC	c.5312C>G	NM_001458.5	NP_001449.3:p.(Pro1771Arg)	NC_000007.13:g.128490451C>G	VUS	1 lab	c0a3a93a25
16:9857994 GRIN2A A>C	16	9857994	9857994	A	C	GRIN2A	c.3407T>G	NM_000833.5	NP_000824.1:p.(Val1136Gly)	NC_000016.9:g.9857994A>C	VUS	1 lab	c0a5838feb
14:23862976 MYH6 G>A	14	23862976	23862976	G	A	MYH6	c.2827C>T	NM_002471.4	NP_002462.2:p.(Arg943Cys)	NC_000014.8:g.23862976G>A	VUS	1 lab	c0a884b63d
18:47364071 MYO5B A>T	18	47364071	47364071	A	T	MYO5B	c.4954T>A	NM_001080467.3	NP_001073936.1:p.(Tyr1652Asn)	NC_000018.9:g.47364071A>T	VUS	1 lab	c0ae4ef27e
1:11087642 MASP2 C>T	1	11087642	11087642	C	T	MASP2	c.1361G>A	NM_006610.4	NP_006601.2:p.(Gly454Asp)	NC_000001.10:g.11087642C>T	VUS	1 lab	c0b3b618ca
7:107569517 LAMB1 A>G	7	107569517	107569517	A	G	LAMB1	c.4879T>C	NM_002291.3	NP_002282.2:p.(Leu1627=)	NC_000007.13:g.107569517A>G	(Likely) benign	1 lab	c0b55a01d8
10:101478184 COX15 C>T	10	101478184	101478184	C	T	COX15	c.906G>A	NM_078470.6	NP_510870.1:p.(Pro302=)	NC_000010.10:g.101478184C>T	(Likely) benign	1 lab	c0c0c0a2c1
7:148080813 CNTNAP2 A>G	7	148080813	148080813	A	G	CNTNAP2	c.3548A>G	NM_014141.6	NP_054860.1:p.(Gln1183Arg)	NC_000007.13:g.148080813A>G	VUS	1 lab	c0c664069a
10:12136162 DHTKD1 G>A	10	12136162	12136162	G	A	DHTKD1	c.1250G>A	NM_018706.7	NP_061176.4:p.(Arg417His)	NC_000010.10:g.12136162G>A	VUS	1 lab	c0c6ca0725
15:44878005 SPG11 C>G	15	44878005	44878005	C	G	SPG11	c.4950G>C	NM_025137.4	NP_079413.3:p.(Lys1650Asn)	NC_000015.9:g.44878005C>G	VUS	1 lab	c0c8e79681
5:52347369 ITGA2 C>T	5	52347369	52347369	C	T	ITGA2	c.759C>T	NM_002203.4	NP_002194.2:p.(Phe253=)	NC_000005.9:g.52347369C>T	(Likely) benign	1 lab	c0ca18e437
8:61654973 CHD7 A>T	8	61654973	61654973	A	T	CHD7	c.982A>T	NM_017780.4	NP_060250.2:p.(Met328Leu)	NC_000008.10:g.61654973A>T	VUS	1 lab	c0cd94325d
4:2826895 SH3BP2 G>A	4	2826895	2826895	G	A	SH3BP2	c.400G>A	NM_003023.4	NP_003014.3:p.(Glu134Lys)	NC_000004.11:g.2826895G>A	VUS	1 lab	c0d3ba995a
10:75394307 MYOZ1 C>T	10	75394307	75394307	C	T	MYOZ1	c.437G>A	NM_021245.4	NP_067068.1:p.(Gly146Asp)	NC_000010.10:g.75394307C>T	VUS	1 lab	c0d3f78723
2:1891324 MYT1L C>A	2	1891324	1891324	C	A	MYT1L	c.2572G>T	NM_015025.4	NP_055840.2:p.(Val858Leu)	NC_000002.11:g.1891324C>A	VUS	1 lab	c0d6fe99d1
16:67644967 CTCF A>G	16	67644967	67644967	A	G	CTCF	c.232A>G	NM_006565.4	NP_006556.1:p.(Met78Val)	NC_000016.9:g.67644967A>G	VUS	1 lab	c0d92dd8a8
3:10413518 ATP2B2 TTGA>T	3	10413518	10413523	TTGA	T	ATP2B2	c.1496_1498del	NM_001683.5	NP_001674.2:p.(Ile499del)	NC_000003.11:g.10413521_10413523del	VUS	1 lab	c0db52d6e9
X:30326334 NR0B1 C>T	X	30326334	30326334	C	T	NR0B1	c.1147G>A	NM_000475.5	NP_000466.2:p.(Gly383Arg)	NC_000023.10:g.30326334C>T	VUS	1 lab	c0e4edff2f
1:7724961 CAMTA1 G>C	1	7724961	7724961	G	C	CAMTA1	c.2354G>C	NM_015215.4	NP_056030.1:p.(Gly785Ala)	NC_000001.10:g.7724961G>C	VUS	1 lab	c0e583aa83
11:103059294 DYNC2H1 G>A	11	103059294	103059294	G	A	DYNC2H1	c.7209G>A	NM_001080463.2	NP_001073932.1:p.(Val2403=)	NC_000011.9:g.103059294G>A	(Likely) benign	1 lab	c0e6b3ae50
2:179398194 TTN T>G	2	179398194	179398194	T	G	TTN	c.103148A>C	NM_001267550.2	NP_001254479.2:p.(Glu34383Ala)	NC_000002.11:g.179398194T>G	VUS	1 lab	c0e77e33da
12:21036411 SLCO1B3 A>G	12	21036411	21036411	A	G	SLCO1B3	c.1557A>G	NM_019844.4	NP_062818.1:p.(Ala519=)	NC_000012.11:g.21036411A>G	(Likely) benign	1 lab	c0f51d74bd
10:12136070 DHTKD1 A>C	10	12136070	12136070	A	C	DHTKD1	c.1160-2A>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12136070A>C	(Likely) pathogenic	1 lab	c1216ed581
7:27135313 HOXA1 GC>G	7	27135313	27135314	GC	G	HOXA1	c.218del	NM_005522.5	NP_005513.2:p.(Arg73ProfsTer41)	NC_000007.13:g.27135314del	(Likely) pathogenic	1 lab	c105f639ac
12:52864998 KRT6C C>T	12	52864998	52864998	C	T	KRT6C	c.995G>A	NM_173086.5	NP_775109.2:p.(Ser332Asn)	NC_000012.11:g.52864998C>T	VUS	1 lab	c10e440b8b
17:56787220 RAD51C G>T	17	56787220	56787220	G	T	RAD51C	c.706G>T	NM_058216.3	NP_478123.1:p.(Val236Phe)	NC_000017.10:g.56787220G>T	VUS	1 lab	c10e4c4893
17:7811005 CHD3 G>A	17	7811005	7811005	G	A	CHD3	c.5188G>A	NM_001005271.3	NP_001005271.2:p.(Asp1730Asn)	NC_000017.10:g.7811005G>A	VUS	1 lab	c115dfcd21
5:147481018 SPINK5 G>A	5	147481018	147481018	G	A	SPINK5	c.1302+19G>A	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147481018G>A	(Likely) benign	1 lab	c1190bee79
15:45974746 SQOR C>T	15	45974746	45974746	C	T	SQOR	c.935C>T	NM_021199.4	NP_067022.1:p.(Ala312Val)	NC_000015.9:g.45974746C>T	VUS	1 lab	c11c047ee7
6:32632745 HLA-DQB1 G>A	6	32632745	32632745	G	A	HLA-DQB1	c.209C>T	NM_001243961.2	NP_001230890.1:p.(Ala70Val)	NC_000006.11:g.32632745G>A	(Likely) benign	1 lab	c11c1c3ecb
13:26828902 CDK8 G>C	13	26828902	26828902	G	C	CDK8	c.124G>C	NM_001260.3	NP_001251.1:p.(Asp42His)	NC_000013.10:g.26828902G>C	VUS	1 lab	c1217f5a0f
7:91830704 KRIT1 T>G	7	91830704	91830704	T	G	KRIT1	c.2059A>C	NM_004912.4	NP_004903.2:p.(Met687Leu)	NC_000007.13:g.91830704T>G	VUS	1 lab	c12346ce63
3:123049815 ADCY5 C>T	3	123049815	123049815	C	T	ADCY5	c.1567G>A	NM_183357.3	NP_899200.1:p.(Val523Ile)	NC_000003.11:g.123049815C>T	VUS	1 lab	c126c82104
12:41374697 CNTN1 C>A	12	41374697	41374697	C	A	CNTN1	c.1805-14C>A	NM_001843.4	NP_001834.2:p.?	NC_000012.11:g.41374697C>A	(Likely) benign	1 lab	c128947fcf
4:74310844 AFP A>G	4	74310844	74310844	A	G	AFP	c.843+5A>G	NM_001134.3	NP_001125.1:p.?	NC_000004.11:g.74310844A>G	(Likely) benign	1 lab	c12cefd162
16:89357054 ANKRD11 C>T	16	89357054	89357054	C	T	ANKRD11	c.580G>A	NM_013275.6	NP_037407.4:p.(Val194Ile)	NC_000016.9:g.89357054C>T	VUS	1 lab	c1302bbf63
6:7584228 DSP G>A	6	7584228	7584228	G	A	DSP	c.6733G>A	NM_004415.4	NP_004406.2:p.(Glu2245Lys)	NC_000006.11:g.7584228G>A	VUS	1 lab	c130d380c7
2:73678796 ALMS1 T>G	2	73678796	73678796	T	G	ALMS1	c.5145T>G	NM_015120.4	NP_055935.4:p.(Tyr1715Ter)	NC_000002.11:g.73678796T>G	(Likely) pathogenic	1 lab	c131d8e4fc
16:89611140 SPG7 G>A	16	89611140	89611140	G	A	SPG7	c.1409G>A	NM_003119.4	NP_003110.1:p.(Arg470Gln)	NC_000016.9:g.89611140G>A	(Likely) pathogenic	1 lab	c13da26e8a
16:23403510 COG7 G>A	16	23403510	23403510	G	A	COG7	c.2146+191C>T	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23403510G>A	(Likely) benign	1 lab	c142aa837d
22:40081856 CACNA1I G>T	22	40081856	40081856	G	T	CACNA1I	c.6118G>T	NM_021096.4	NP_066919.2:p.(Asp2040Tyr)	NC_000022.10:g.40081856G>T	VUS	1 lab	c145b1aa36
5:14871467 ANKH C>T	5	14871467	14871467	C	T	ANKH	c.90G>A	NM_054027.6	NP_473368.1:p.(Gly30=)	NC_000005.9:g.14871467C>T	(Likely) benign	1 lab	c14d2237cc
3:12458578 PPARG G>T	3	12458578	12458578	G	T	PPARG	c.1195G>T	NM_015869.5	NP_056953.2:p.(Ala399Ser)	NC_000003.11:g.12458578G>T	VUS	1 lab	c14ece99a1
X:39923826 BCOR G>A	X	39923826	39923826	G	A	BCOR	c.3265C>T	NM_001123385.2	NP_001116857.1:p.(Arg1089Cys)	NC_000023.10:g.39923826G>A	(Likely) benign	1 lab	c15875f84f
21:28315743 ADAMTS5 T>C	21	28315743	28315743	T	C	ADAMTS5	c.1361A>G	NM_007038.5	NP_008969.2:p.(Lys454Arg)	NC_000021.8:g.28315743T>C	VUS	1 lab	c15b179e04
1:38184328 EPHA10 C>T	1	38184328	38184328	C	T	EPHA10	c.2912+5G>A	NM_001099439.2	NP_001092909.1:p.?	NC_000001.10:g.38184328C>T	VUS	1 lab	c15c23088f
15:55742479 DNAAF4 A>C	15	55742479	55742479	A	C	DNAAF4	c.724T>G	NM_130810.4	NP_570722.2:p.(Phe242Val)	NC_000015.9:g.55742479A>C	VUS	1 lab	c15e6d31fc
19:42860606 MEGF8 G>A	19	42860606	42860606	G	A	MEGF8	c.4421+1G>A	NM_001410.3	NP_001401.2:p.?	NC_000019.9:g.42860606G>A	(Likely) pathogenic	1 lab	c1614a7306
14:91779758 CCDC88C C>T	14	91779758	91779758	C	T	CCDC88C	c.2402G>A	NM_001080414.4	NP_001073883.2:p.(Arg801Gln)	NC_000014.8:g.91779758C>T	VUS	1 lab	c162de8380
2:44132845 LRPPRC C>T	2	44132845	44132845	C	T	LRPPRC	c.3350G>A	NM_133259.4	NP_573566.2:p.(Arg1117Gln)	NC_000002.11:g.44132845C>T	VUS	1 lab	c1632ad21b
15:48780678 FBN1 C>T	15	48780678	48780678	C	T	FBN1	c.3095G>A	NM_000138.5	NP_000129.3:p.(Cys1032Tyr)	NC_000015.9:g.48780678C>T	(Likely) pathogenic	1 lab	c1663b43f9
1:8418643 RERE CCCGCTCTCGG>C	1	8418643	8418653	CCCGCTCTCGG	C	RERE	c.3942_3951del	NM_012102.4	NP_036234.3:p.(Ile1314MetfsTer7)	NC_000001.10:g.8418644_8418653del	VUS	1 lab	c16844ab95
2:241538074 CAPN10 A>G	2	241538074	241538074	A	G	CAPN10	c.1996A>G	NM_023083.4	NP_075571.2:p.(Ile666Val)	NC_000002.11:g.241538074A>G	(Likely) benign	1 lab	c16e8400e1
17:41222994 BRCA1 AC>A	17	41222994	41222997	AC	A	BRCA1	c.4936del	NM_007294.4	NP_009225.1:p.(Val1646SerfsTer12)	NC_000017.10:g.41222997del	(Likely) pathogenic	1 lab	c17090686c
11:65480876 KAT5 C>T	11	65480876	65480876	C	T	KAT5	c.343C>T	NM_006388.4	NP_006379.2:p.(Arg115Cys)	NC_000011.9:g.65480876C>T	VUS	1 lab	c1720f7644
2:164467654 FIGN G>T	2	164467654	164467654	G	T	FIGN	c.688C>A	NM_018086.4	NP_060556.2:p.(Pro230Thr)	NC_000002.11:g.164467654G>T	VUS	1 lab	c174ad8cb8
16:1261222 CACNA1H A>G	16	1261222	1261222	A	G	CACNA1H	c.4278A>G	NM_021098.3	NP_066921.2:p.(Ser1426=)	NC_000016.9:g.1261222A>G	(Likely) benign	1 lab	c1752fe2d1
2:166020158 SCN3A G>A	2	166020158	166020158	G	A	SCN3A	c.664C>T	NM_006922.4	NP_008853.3:p.(Arg222Ter)	NC_000002.11:g.166020158G>A	VUS	1 lab	c175d07d21
3:151056598 P2RY12 A>C	3	151056598	151056598	A	C	P2RY12	c.36T>G	NM_022788.5	NP_073625.1:p.(Gly12=)	NC_000003.11:g.151056598A>C	(Likely) benign	1 lab	c175d3cbc4
19:54327349 NLRP12 T>A	19	54327349	54327349	T	A	NLRP12	c.80A>T	NM_144687.4	NP_653288.1:p.(Lys27Met)	NC_000019.9:g.54327349T>A	VUS	1 lab	c17cde255b
3:123166504 ADCY5 G>A	3	123166504	123166504	G	A	ADCY5	c.889C>T	NM_183357.3	NP_899200.1:p.(His297Tyr)	NC_000003.11:g.123166504G>A	VUS	1 lab	c17d8d3f9b
16:75579762 TMEM231 C>T	16	75579762	75579762	C	T	TMEM231	c.559G>A	NM_001077416.2	NP_001070884.2:p.(Gly187Ser)	NC_000016.9:g.75579762C>T	VUS	1 lab	c18358ab69
17:5418312 NLRP1 G>A	17	5418312	5418312	G	A	NLRP1	c.4184C>T	NM_033004.4	NP_127497.1:p.(Ser1395Leu)	NC_000017.10:g.5418312G>A	VUS	1 lab	c188c994b4
20:5283094 PROKR2 C>G	20	5283094	5283094	C	G	PROKR2	c.747G>C	NM_144773.4	NP_658986.1:p.(Glu249Asp)	NC_000020.10:g.5283094C>G	VUS	1 lab	c18c069385
15:89866679 POLG C>T	15	89866679	89866679	C	T	POLG	c.2221G>A	NM_002693.3	NP_002684.1:p.(Asp741Asn)	NC_000015.9:g.89866679C>T	VUS	1 lab	c18d4c92ee
X:44942770 KDM6A ATCT>A	X	44942770	44942776	ATCT	A	KDM6A	c.3354_3356del	NM_021140.4	NP_066963.2:p.(Leu1119del)	NC_000023.10:g.44942774_44942776del	(Likely) pathogenic	1 lab	c192505775
18:19348671 MIB1 G>A	18	19348671	19348671	G	A	MIB1	c.489G>A	NM_020774.4	NP_065825.1:p.(Trp163Ter)	NC_000018.9:g.19348671G>A	(Likely) pathogenic	1 lab	c197e2708c
X:152969541 BCAP31 C>T	X	152969541	152969541	C	T	BCAP31	c.350G>A	NM_001139441.1	NP_001132913.1:p.(Arg117Lys)	NC_000023.10:g.152969541C>T	VUS	1 lab	c19c73c1fd
17:78063957 CCDC40 A>G	17	78063957	78063957	A	G	CCDC40	c.2852A>G	NM_001243342.2	NP_001230271.1:p.(Gln951Arg)	NC_000017.10:g.78063957A>G	(Likely) benign	1 lab	c1a6232b45
8:22020609 SFTPC T>C	8	22020609	22020609	T	C	SFTPC	c.218T>C	NM_003018.4	NP_003009.2:p.(Ile73Thr)	NC_000008.10:g.22020609T>C	(Likely) pathogenic	1 lab	c1a668db51
2:121708819 GLI2 G>GC	2	121708819	121708824	G	GC	GLI2	c.260dup	NM_005270.5	NP_005261.2:p.(Ala88CysfsTer10)	NC_000002.11:g.121708824dup	(Likely) pathogenic	1 lab	c1a94cd8cb
17:48676817 CACNA1G C>G	17	48676817	48676817	C	G	CACNA1G	c.3287C>G	NM_018896.5	NP_061496.2:p.(Pro1096Arg)	NC_000017.10:g.48676817C>G	VUS	1 lab	c1a9d5f267
18:31323194 ASXL3 C>T	18	31323194	31323194	C	T	ASXL3	c.3382C>T	NM_030632.3	NP_085135.1:p.(Arg1128Trp)	NC_000018.9:g.31323194C>T	VUS	1 lab	c1a9dc7be7
22:40059850 CACNA1I A>G	22	40059850	40059850	A	G	CACNA1I	c.3597+4A>G	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40059850A>G	VUS	1 lab	c1aa9e8bbb
17:5437265 NLRP1 C>A	17	5437265	5437265	C	A	NLRP1	c.3004G>T	NM_033004.4	NP_127497.1:p.(Glu1002Ter)	NC_000017.10:g.5437265C>A	VUS	1 lab	c1b271852a
10:81070684 ZMIZ1 C>T	10	81070684	81070684	C	T	ZMIZ1	c.2839C>T	NM_020338.4	NP_065071.1:p.(Pro947Ser)	NC_000010.10:g.81070684C>T	VUS	1 lab	c1b3ecb43d
19:17303684 MYO9B C>T	19	17303684	17303684	C	T	MYO9B	c.2941C>T	NM_004145.4	NP_004136.2:p.(Arg981Trp)	NC_000019.9:g.17303684C>T	VUS	1 lab	c1b798bcc6
6:105198267 HACE1 A>G	6	105198267	105198267	A	G	HACE1	c.2292T>C	NM_020771.4	NP_065822.2:p.(Phe764=)	NC_000006.11:g.105198267A>G	(Likely) benign	1 lab	c1b833f57a
2:179460348 TTN C>G	2	179460348	179460348	C	G	TTN	c.57733G>C	NM_001267550.2	NP_001254479.2:p.(Val19245Leu)	NC_000002.11:g.179460348C>G	VUS	1 lab	c1bb80f9a2
18:72601955 ZNF407 C>G	18	72601955	72601955	C	G	ZNF407	c.5210C>G	NM_017757.3	NP_060227.2:p.(Thr1737Ser)	NC_000018.9:g.72601955C>G	VUS	1 lab	c1bbfac159
14:23896479 MYH7 C>T	14	23896479	23896479	C	T	MYH7	c.1926G>A	NM_000257.4	NP_000248.2:p.(Ser642=)	NC_000014.8:g.23896479C>T	(Likely) benign	1 lab	c1bdb104e1
5:90024712 ADGRV1 A>G	5	90024712	90024712	A	G	ADGRV1	c.10388A>G	NM_032119.4	NP_115495.3:p.(Asn3463Ser)	NC_000005.9:g.90024712A>G	VUS	1 lab	c1bfc6b29e
5:137892159 HSPA9 G>A	5	137892159	137892159	G	A	HSPA9	c.1944C>T	NM_004134.7	NP_004125.3:p.(Phe648=)	NC_000005.9:g.137892159G>A	(Likely) benign	1 lab	c1c21a51a2
22:21349278 LZTR1 GC>G	22	21349278	21349283	GC	G	LZTR1	c.1910del	NM_006767.4	NP_006758.2:p.(Pro637LeufsTer15)	NC_000022.10:g.21349283del	(Likely) pathogenic	1 lab	c1c47fa389
18:21394384 LAMA3 G>A	18	21394384	21394384	G	A	LAMA3	c.1806G>A	NM_198129.4	NP_937762.2:p.(Lys602=)	NC_000018.9:g.21394384G>A	(Likely) benign	1 lab	c1c555fdfb
3:8787347 CAV3 C>G	3	8787347	8787347	C	G	CAV3	c.250C>G	NM_033337.3	NP_203123.1:p.(Leu84Val)	NC_000003.11:g.8787347C>G	(Likely) benign	1 lab	c1c7ba1348
12:52908849 KRT5 GC>G	12	52908849	52908855	GC	G	KRT5	c.1649del	NM_000424.4	NP_000415.2:p.(Gly550AlafsTer77)	NC_000012.11:g.52908855del	(Likely) pathogenic	1 lab	c1ca297b5e
10:30615482 MTPAP AAC>A	10	30615482	30615487	AAC	A	MTPAP	c.861_862del	NM_018109.4	NP_060579.3:p.(Leu288ArgfsTer5)	NC_000010.10:g.30615486_30615487del	VUS	1 lab	c1cec1cc25
5:1216768 SLC6A19 G>A	5	1216768	1216768	G	A	SLC6A19	c.983G>A	NM_001003841.3	NP_001003841.1:p.(Arg328His)	NC_000005.9:g.1216768G>A	VUS	1 lab	c1d14b9c3b
5:39331845 C9 C>T	5	39331845	39331845	C	T	C9	c.548G>A	NM_001737.5	NP_001728.1:p.(Arg183Gln)	NC_000005.9:g.39331845C>T	VUS	1 lab	c1d1b73d63
6:110424608 WASF1 T>A	6	110424608	110424608	T	A	WASF1	c.866A>T	NM_003931.3	NP_003922.1:p.(Asp289Val)	NC_000006.11:g.110424608T>A	VUS	1 lab	c1d5acaa9d
17:73746267 ITGB4 A>G	17	73746267	73746267	A	G	ITGB4	c.3392A>G	NM_001005731.3	NP_001005731.1:p.(Gln1131Arg)	NC_000017.10:g.73746267A>G	VUS	1 lab	c1d7626aa7
1:33956838 ZSCAN20 G>C	1	33956838	33956838	G	C	ZSCAN20	c.980G>C	NM_001377376.1	NP_001364305.1:p.(Gly327Ala)	NC_000001.10:g.33956838G>C	VUS	1 lab	c1db636761
17:73096467 SLC16A5 GGC>G	17	73096467	73096469	GGC	G	SLC16A5	c.710_711del	NM_001271765.2	NP_001258694.1:p.(Gly237ValfsTer65)	NC_000017.10:g.73096468_73096469del	VUS	1 lab	c1dba0095b
1:161192256 APOA2 G>A	1	161192256	161192256	G	A	APOA2	c.242C>T	NM_001643.2	NP_001634.1:p.(Thr81Met)	NC_000001.10:g.161192256G>A	VUS	1 lab	c1dc3c3789
X:49084492 CACNA1F C>T	X	49084492	49084492	C	T	CACNA1F	c.1118+6G>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49084492C>T	(Likely) benign	1 lab	c1decbf520
17:41215364 BRCA1 T>A	17	41215364	41215364	T	A	BRCA1	c.5179A>T	NM_007294.4	NP_009225.1:p.(Lys1727Ter)	NC_000017.10:g.41215364T>A	(Likely) pathogenic	1 lab	c1e0091cd3
9:98268837 PTCH1 CTT>C	9	98268837	98268839	CTT	C	PTCH1	c.46_47del	NM_001083602.3	NP_001077071.1:p.(Lys16ValfsTer7)	NC_000009.11:g.98268838_98268839del	(Likely) pathogenic	1 lab	c1e565ec78
12:52965173 KRT74 T>G	12	52965173	52965173	T	G	KRT74	c.813A>C	NM_175053.4	NP_778223.2:p.(Glu271Asp)	NC_000012.11:g.52965173T>G	(Likely) benign	1 lab	c1e66df0e5
1:236912421 ACTN2 T>C	1	236912421	236912421	T	C	ACTN2	c.1516-3T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912421T>C	(Likely) benign	1 lab	c1e8368c2e
X:153222118 HCFC1 C>T	X	153222118	153222118	C	T	HCFC1	c.2593G>A	NM_005334.3	NP_005325.2:p.(Val865Ile)	NC_000023.10:g.153222118C>T	VUS	1 lab	c1e9e5826c
7:56087280 PSPH G>C	7	56087280	56087280	G	C	PSPH	c.275+13C>G	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56087280G>C	(Likely) benign	1 lab	c1ea28be94
15:66996288 SMAD6 G>T	15	66996288	66996288	G	T	SMAD6	c.692G>T	NM_005585.5	NP_005576.3:p.(Arg231Leu)	NC_000015.9:g.66996288G>T	VUS	1 lab	c1f4b8892d
19:6686257 C3 C>T	19	6686257	6686257	C	T	C3	c.3688G>A	NM_000064.4	NP_000055.2:p.(Val1230Met)	NC_000019.9:g.6686257C>T	VUS	1 lab	d9f1b1468b
11:126213242 DCPS G>A	11	126213242	126213242	G	A	DCPS	c.677G>A	NM_014026.6	NP_054745.1:p.(Gly226Asp)	NC_000011.9:g.126213242G>A	(Likely) benign	1 lab	c1f81aa3a8
10:115364565 NRAP G>T	10	115364565	115364565	G	T	NRAP	c.4030C>A	NM_001261463.2	NP_001248392.1:p.(Leu1344Ile)	NC_000010.10:g.115364565G>T	VUS	1 lab	c201a05580
4:122742217 CCNA2 T>C	4	122742217	122742217	T	C	CCNA2	c.487A>G	NM_001237.5	NP_001228.2:p.(Ile163Val)	NC_000004.11:g.122742217T>C	(Likely) benign	1 lab	c2025a6c96
3:197427748 RUBCN G>A	3	197427748	197427748	G	A	RUBCN	c.817C>T	NM_001145642.4	NP_001139114.1:p.(Arg273Ter)	NC_000003.11:g.197427748G>A	(Likely) pathogenic	1 lab	c2083a7f77
19:13136027 NFIX C>T	19	13136027	13136027	C	T	NFIX	c.244C>T	NM_001271043.2	NP_001257972.1:p.(Arg82Trp)	NC_000019.9:g.13136027C>T	VUS	1 lab	c20849ed23
16:87376546 FBXO31 C>A	16	87376546	87376546	C	A	FBXO31	c.669G>T	NM_024735.5	NP_079011.3:p.(Lys223Asn)	NC_000016.9:g.87376546C>A	VUS	1 lab	c2126afcfa
20:47648588 ARFGEF2 T>G	20	47648588	47648588	T	G	ARFGEF2	c.5066T>G	NM_006420.3	NP_006411.2:p.(Val1689Gly)	NC_000020.10:g.47648588T>G	VUS	1 lab	c212757804
17:79478580 ACTG1 CAGAGGCGT>C	17	79478580	79478593	CAGAGGCGT	C	ACTG1	c.428_435del	NM_001614.5	NP_001605.1:p.(Tyr143TrpfsTer50)	NC_000017.10:g.79478586_79478593del	VUS	1 lab	c214c4c7cd
18:32431844 DTNA C>T	18	32431844	32431844	C	T	DTNA	c.1403C>T	NM_001390.4	NP_001381.2:p.(Ala468Val)	NC_000018.9:g.32431844C>T	VUS	1 lab	c21bbbd82b
11:2186495 TH G>C	11	2186495	2186495	G	C	TH	c.1394C>G	NM_199292.3	NP_954986.2:p.(Ser465Cys)	NC_000011.9:g.2186495G>C	VUS	1 lab	c21e2722ad
11:77825390 ALG8 T>C	11	77825390	77825390	T	C	ALG8	c.595A>G	NM_024079.5	NP_076984.2:p.(Lys199Glu)	NC_000011.9:g.77825390T>C	VUS	1 lab	c21fd3c0f3
X:152959879 SLC6A8 C>T	X	152959879	152959879	C	T	SLC6A8	c.1473C>T	NM_005629.4	NP_005620.1:p.(Cys491=)	NC_000023.10:g.152959879C>T	(Likely) benign	1 lab	c223ac16e8
6:7229837 RREB1 A>G	6	7229837	7229837	A	G	RREB1	c.1505A>G	NM_001003699.4	NP_001003699.1:p.(Lys502Arg)	NC_000006.11:g.7229837A>G	VUS	1 lab	c224ba2c1f
2:179478589 TTN G>A	2	179478589	179478589	G	A	TTN	c.49421C>T	NM_001267550.2	NP_001254479.2:p.(Pro16474Leu)	NC_000002.11:g.179478589G>A	VUS	1 lab	c22be3c497
19:54304536 NLRP12 C>G	19	54304536	54304536	C	G	NLRP12	c.2704G>C	NM_001277126.2	NP_001264055.1:p.(Val902Leu)	NC_000019.9:g.54304536C>G	(Likely) benign	1 lab	c22d1b2cc6
2:163133303 IFIH1 G>A	2	163133303	163133303	G	A	IFIH1	c.2198C>T	NM_022168.4	NP_071451.2:p.(Ala733Val)	NC_000002.11:g.163133303G>A	VUS	1 lab	c231abd0ae
3:119134372 ARHGAP31 C>T	3	119134372	119134372	C	T	ARHGAP31	c.3596C>T	NM_020754.4	NP_065805.2:p.(Ala1199Val)	NC_000003.11:g.119134372C>T	VUS	1 lab	c23ddec4a4
2:37259916 HEATR5B C>T	2	37259916	37259916	C	T	HEATR5B	c.3217G>A	NM_019024.3	NP_061897.1:p.(Val1073Ile)	NC_000002.11:g.37259916C>T	VUS	1 lab	c23ea14656
12:110765646 ATP2A2 A>G	12	110765646	110765646	A	G	ATP2A2	c.919A>G	NM_170665.4	NP_733765.1:p.(Ile307Val)	NC_000012.11:g.110765646A>G	VUS	1 lab	c23faa3fa8
7:117250625 CFTR A>G	7	117250625	117250625	A	G	CFTR	c.3041A>G	NM_000492.4	NP_000483.3:p.(Tyr1014Cys)	NC_000007.13:g.117250625A>G	VUS	1 lab	c243e4b029
10:89267957 MINPP1 C>T	10	89267957	89267957	C	T	MINPP1	c.-5C>T	NM_001178118.2	NP_001171589.1:p.?	NC_000010.10:g.89267957C>T	(Likely) benign	1 lab	c2469ff95c
17:29685917 NF1 A>T	17	29685917	29685917	A	T	NF1	c.8051-70A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685917A>T	(Likely) benign	1 lab	c248eff17f
1:223176150 DISP1 A>G	1	223176150	223176150	A	G	DISP1	c.1411A>G	NM_032890.5	NP_116279.2:p.(Asn471Asp)	NC_000001.10:g.223176150A>G	VUS	1 lab	c24c7b41f3
3:43121559 POMGNT2 C>T	3	43121559	43121559	C	T	POMGNT2	c.1365G>A	NM_032806.6	NP_116195.2:p.(Pro455=)	NC_000003.11:g.43121559C>T	(Likely) benign	1 lab	c25371a88a
6:24205310 DCDC2 CA>C	6	24205310	24205311	CA	C	DCDC2	c.942del	NM_016356.5	NP_057440.2:p.(Gly315GlufsTer32)	NC_000006.11:g.24205311del	(Likely) pathogenic	1 lab	c254daf1e7
22:19164632 SLC25A1 CCTTGTTCCCG>C	22	19164632	19164643	CCTTGTTCCCG	C	SLC25A1	c.517_526del	NM_005984.5	NP_005975.1:p.(Arg173GlyfsTer2)	NC_000022.10:g.19164634_19164643del	(Likely) pathogenic	1 lab	c255df5f23
X:153583286 FLNA G>C	X	153583286	153583286	G	C	FLNA	c.5100C>G	NM_001456.4	NP_001447.2:p.(Phe1700Leu)	NC_000023.10:g.153583286G>C	VUS	1 lab	c259b1cbac
15:60795862 RORA C>A	15	60795862	60795862	C	A	RORA	c.1046G>T	NM_134260.3	NP_599022.1:p.(Arg349Leu)	NC_000015.9:g.60795862C>A	VUS	1 lab	c259d6a14f
10:97392764 ALDH18A1 C>G	10	97392764	97392764	C	G	ALDH18A1	c.760G>C	NM_002860.4	NP_002851.2:p.(Ala254Pro)	NC_000010.10:g.97392764C>G	VUS	1 lab	c25ac002ba
11:78369281 TENM4 C>T	11	78369281	78369281	C	T	TENM4	c.8132G>A	NM_001098816.3	NP_001092286.2:p.(Arg2711Gln)	NC_000011.9:g.78369281C>T	(Likely) benign	1 lab	c25bca7aeb
16:30017956 DOC2A C>CT	16	30017956	30017957	C	CT	DOC2A	c.920_921insA	NM_003586.3	NP_003577.2:p.(Cys308ValfsTer12)	NC_000016.9:g.30017956_30017957insT	VUS	1 lab	c25c0cb282
10:61552692 CCDC6 G>T	10	61552692	61552692	G	T	CCDC6	c.1408C>A	NM_005436.5	NP_005427.2:p.(Pro470Thr)	NC_000010.10:g.61552692G>T	(Likely) benign	1 lab	c25e46c649
X:9683001 TBL1X C>T	X	9683001	9683001	C	T	TBL1X	c.1665C>T	NM_005647.4	NP_005638.1:p.(Asn555=)	NC_000023.10:g.9683001C>T	(Likely) benign	1 lab	c25f5a8c7a
12:110784205 ATP2A2 T>G	12	110784205	110784205	T	G	ATP2A2	c.2980+79T>G	NM_001681.4	NP_001672.1:p.?	NC_000012.11:g.110784205T>G	(Likely) benign	1 lab	c2604c188d
9:123787697 C5 T>TACACACAC	9	123787697	123787727	T	TACACACAC	C5	c.1000+27_1000+34dup	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123787720_123787727dup	(Likely) benign	1 lab	c262b6bcc4
1:16258281 SPEN G>A	1	16258281	16258281	G	A	SPEN	c.5546G>A	NM_015001.3	NP_055816.2:p.(Arg1849Gln)	NC_000001.10:g.16258281G>A	VUS	1 lab	c265912dc5
10:43607621 RET G>A	10	43607621	43607621	G	A	RET	c.1597G>A	NM_020975.6	NP_066124.1:p.(Gly533Ser)	NC_000010.10:g.43607621G>A	VUS	1 lab	c26d777c05
17:62481972 POLG2 C>T	17	62481972	62481972	C	T	POLG2	c.983G>A	NM_007215.4	NP_009146.2:p.(Arg328Gln)	NC_000017.10:g.62481972C>T	VUS	1 lab	c26ee2b522
1:63902522 ALG6 T>G	1	63902522	63902522	T	G	ALG6	c.1355T>G	NM_013339.4	NP_037471.2:p.(Leu452Arg)	NC_000001.10:g.63902522T>G	(Likely) pathogenic	1 lab	c276c751b1
1:151374091 PSMB4 T>C	1	151374091	151374091	T	C	PSMB4	c.767T>C	NM_002796.3	NP_002787.2:p.(Ile256Thr)	NC_000001.10:g.151374091T>C	VUS	1 lab	c2770cfb1f
7:128497242 FLNC C>T	7	128497242	128497242	C	T	FLNC	c.7632C>T	NM_001458.5	NP_001449.3:p.(Gly2544=)	NC_000007.13:g.128497242C>T	(Likely) benign	1 lab	c27b94a2b2
17:57760484 CLTC C>T	17	57760484	57760484	C	T	CLTC	c.3914C>T	NM_001288653.2	NP_001275582.1:p.(Thr1305Ile)	NC_000017.10:g.57760484C>T	(Likely) benign	1 lab	c27ebcb4a2
2:179417370 TTN CAT>C	2	179417370	179417372	CAT	C	TTN	c.85332_85333del	NM_001256850.1	NP_001243779.1:p.(Cys28445Ter)	NC_000002.11:g.179417371_179417372del	(Likely) pathogenic	1 lab	c27f60adec
7:35242338 TBX20 C>T	7	35242338	35242338	C	T	TBX20	c.1048G>A	NM_001077653.2	NP_001071121.1:p.(Val350Ile)	NC_000007.13:g.35242338C>T	VUS	1 lab	c284884149
2:166243433 SCN2A G>A	2	166243433	166243433	G	A	SCN2A	c.4729G>A	NM_021007.3	NP_066287.2:p.(Glu1577Lys)	NC_000002.11:g.166243433G>A	(Likely) pathogenic	1 lab	c2987004a9
16:29814234 KIF22 G>A	16	29814234	29814234	G	A	KIF22	c.1221G>A	NM_001256270.1	NP_001243199.1:p.(Val407=)	NC_000016.9:g.29814234G>A	(Likely) benign	1 lab	c2992a64f2
11:17432140 ABCC8 G>A	11	17432140	17432140	G	A	ABCC8	c.2617C>T	NM_000352.6	NP_000343.2:p.(Leu873Phe)	NC_000011.9:g.17432140G>A	VUS	1 lab	c29c8188c4
1:183187613 LAMC2 C>T	1	183187613	183187613	C	T	LAMC2	c.493C>T	NM_005562.3	NP_005553.2:p.(Arg165Cys)	NC_000001.10:g.183187613C>T	VUS	1 lab	c2ae786f60
2:21251356 APOB G>A	2	21251356	21251356	G	A	APOB	c.1672C>T	NM_000384.3	NP_000375.3:p.(Arg558Ter)	NC_000002.11:g.21251356G>A	(Likely) pathogenic	1 lab	c2aef20f5c
2:129075961 HS6ST1 T>C	2	129075961	129075961	T	C	HS6ST1	c.177A>G	NM_004807.3	NP_004798.3:p.(Thr59=)	NC_000002.11:g.129075961T>C	(Likely) benign	1 lab	c2b28b757f
11:103047162 DYNC2H1 A>G	11	103047162	103047162	A	G	DYNC2H1	c.5873A>G	NM_001080463.2	NP_001073932.1:p.(Gln1958Arg)	NC_000011.9:g.103047162A>G	(Likely) pathogenic	1 lab	c2b7208a37
6:29913067 HLA-A T>C	6	29913067	29913067	T	C	HLA-A	c.1093+9T>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29913067T>C	(Likely) benign	1 lab	c2b8365376
11:108198486 ATM GT>G	11	108198486	108198487	GT	G	ATM	c.7089+2del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108198487del	(Likely) pathogenic	1 lab	c2b9541ba9
6:7580873 DSP G>C	6	7580873	7580873	G	C	DSP	c.4450G>C	NM_004415.4	NP_004406.2:p.(Glu1484Gln)	NC_000006.11:g.7580873G>C	VUS	1 lab	c2bbecf70d
4:84205683 COQ2 G>C	4	84205683	84205683	G	C	COQ2	c.385C>G	NM_015697.9	NP_056512.5:p.(Arg129Gly)	NC_000004.11:g.84205683G>C	VUS	1 lab	c2bca97e2a
7:113558402 PPP1R3A G>T	7	113558402	113558402	G	T	PPP1R3A	c.650C>A	NM_002711.4	NP_002702.2:p.(Thr217Lys)	NC_000007.13:g.113558402G>T	VUS	1 lab	c2bf213190
18:21427606 LAMA3 G>A	18	21427606	21427606	G	A	LAMA3	c.4110G>A	NM_198129.4	NP_937762.2:p.(Glu1370=)	NC_000018.9:g.21427606G>A	(Likely) benign	1 lab	c2c33f1f8d
5:138860740 STING1 A>G	5	138860740	138860740	A	G	STING1	c.411+4T>C	NM_198282.4	NP_938023.1:p.?	NC_000005.9:g.138860740A>G	(Likely) benign	1 lab	c2c83b7b4b
22:46860228 CELSR1 C>T	22	46860228	46860228	C	T	CELSR1	c.3559G>A	NM_014246.4	NP_055061.1:p.(Val1187Ile)	NC_000022.10:g.46860228C>T	(Likely) benign	1 lab	c2ca889323
X:138820101 ATP11C T>C	X	138820101	138820101	T	C	ATP11C	c.3271A>G	NM_001010986.3	NP_001010986.2:p.(Lys1091Glu)	NC_000023.10:g.138820101T>C	VUS	1 lab	c2cad266f1
3:189582010 TP63 A>T	3	189582010	189582010	A	T	TP63	c.580-11A>T	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189582010A>T	(Likely) benign	1 lab	c2cd2d140a
1:161293463 SDHC A>G	1	161293463	161293463	A	G	SDHC	c.77+3A>G	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161293463A>G	(Likely) benign	1 lab	c2ce0ec7d3
20:57897448 EDN3 AACAG>A	20	57897448	57897455	AACAG	A	EDN3	c.568_571del	NM_207034.3	NP_996917.1:p.(Asp190LysfsTer18)	NC_000020.10:g.57897452_57897455del	VUS	1 lab	c2d2aa4c5e
1:66064426 LEPR GA>G	1	66064426	66064427	GA	G	LEPR	c.934del	NM_002303.6	NP_002294.2:p.(Arg312AspfsTer30)	NC_000001.10:g.66064427del	(Likely) pathogenic	1 lab	c2d565b927
X:153297683 MECP2 C>T	X	153297683	153297683	C	T	MECP2	c.352G>A	NM_004992.4	NP_004983.1:p.(Gly118Arg)	NC_000023.10:g.153297683C>T	(Likely) pathogenic	1 lab	c2d6cfce0d
18:32409008 DTNA G>C	18	32409008	32409008	G	C	DTNA	c.1098G>C	NM_001392.5	NP_001383.2:p.(Ser366=)	NC_000018.9:g.32409008G>C	(Likely) benign	1 lab	c2d88724d2
4:6578326 MAN2B2 G>A	4	6578326	6578326	G	A	MAN2B2	c.160G>A	NM_015274.3	NP_056089.1:p.(Ala54Thr)	NC_000004.11:g.6578326G>A	VUS	1 lab	c2d9018929
15:56435017 RFX7 C>T	15	56435017	56435017	C	T	RFX7	c.360G>A	NM_022841.7	NP_073752.6:p.(Pro120=)	NC_000015.9:g.56435017C>T	VUS	1 lab	c2dab61c15
2:197634728 GTF3C3 C>T	2	197634728	197634728	C	T	GTF3C3	c.2296G>A	NM_012086.5	NP_036218.1:p.(Glu766Lys)	NC_000002.11:g.197634728C>T	VUS	1 lab	c2deb2a06d
4:26430390 RBPJ C>T	4	26430390	26430390	C	T	RBPJ	c.835C>T	NM_005349.4	NP_005340.2:p.(Pro279Ser)	NC_000004.11:g.26430390C>T	VUS	1 lab	c2e04736b9
X:53575009 HUWE1 T>A	X	53575009	53575009	T	A	HUWE1	c.10261A>T	NM_031407.7	NP_113584.3:p.(Thr3421Ser)	NC_000023.10:g.53575009T>A	(Likely) benign	1 lab	c2e5c21655
16:89805261 FANCA A>G	16	89805261	89805261	A	G	FANCA	c.4260+29T>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805261A>G	(Likely) benign	1 lab	c2eb8e8505
2:179447774 TTN C>T	2	179447774	179447774	C	T	TTN	c.65756G>A	NM_001267550.2	NP_001254479.2:p.(Cys21919Tyr)	NC_000002.11:g.179447774C>T	VUS	1 lab	c2eef3e808
1:218580732 TGFB2 A>G	1	218580732	218580732	A	G	TGFB2	c.510+2058A>G	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218580732A>G	VUS	1 lab	c2f3aa639e
21:34924129 SON G>C	21	34924129	34924129	G	C	SON	c.2592G>C	NM_032195.3	NP_115571.3:p.(Gln864His)	NC_000021.8:g.34924129G>C	VUS	1 lab	c2f4e46b2b
3:158402378 GFM1 C>T	3	158402378	158402378	C	T	GFM1	c.1830C>T	NM_024996.7	NP_079272.4:p.(Val610=)	NC_000003.11:g.158402378C>T	(Likely) benign	1 lab	c2f8a60ec4
7:794471 DNAAF5 A>G	7	794471	794471	A	G	DNAAF5	c.1257+13A>G	NM_017802.4	NP_060272.3:p.?	NC_000007.13:g.794471A>G	(Likely) benign	1 lab	c2f9561e4f
19:13135964 NFIX G>A	19	13135964	13135964	G	A	NFIX	c.181G>A	NM_001271043.2	NP_001257972.1:p.(Glu61Lys)	NC_000019.9:g.13135964G>A	(Likely) pathogenic	1 lab	c2febd0ec2
12:120660770 PXN G>A	12	120660770	120660770	G	A	PXN	c.389C>T	NM_001080855.3	NP_001074324.1:p.(Ser130Leu)	NC_000012.11:g.120660770G>A	VUS	1 lab	c3017b97fa
11:47605974 NDUFS3 C>T	11	47605974	47605974	C	T	NDUFS3	c.736C>T	NM_004551.3	NP_004542.1:p.(Arg246Cys)	NC_000011.9:g.47605974C>T	VUS	1 lab	c304a7cf0c
1:245865849 KIF26B T>C	1	245865849	245865849	T	C	KIF26B	c.6268T>C	NM_018012.4	NP_060482.2:p.(Phe2090Leu)	NC_000001.10:g.245865849T>C	VUS	1 lab	c304bdefb1
9:131348219 SPTAN1 A>G	9	131348219	131348219	A	G	SPTAN1	c.2753A>G	NM_001130438.3	NP_001123910.1:p.(Tyr918Cys)	NC_000009.11:g.131348219A>G	(Likely) benign	1 lab	c306a7fc76
11:6646870 DCHS1 G>A	11	6646870	6646870	G	A	DCHS1	c.6820C>T	NM_003737.4	NP_003728.1:p.(Arg2274Cys)	NC_000011.9:g.6646870G>A	VUS	1 lab	c3070974da
1:11272509 MTOR G>A	1	11272509	11272509	G	A	MTOR	c.3421C>T	NM_004958.4	NP_004949.1:p.(Arg1141Cys)	NC_000001.10:g.11272509G>A	VUS	1 lab	c30c104272
12:22048252 ABCC9 G>C	12	22048252	22048252	G	C	ABCC9	c.1619-3C>G	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.22048252G>C	VUS	1 lab	c315292eea
15:71535112 THSD4 C>T	15	71535112	71535112	C	T	THSD4	c.589C>T	NM_024817.2	NP_079093.2:p.(Arg197Cys)	NC_000015.9:g.71535112C>T	(Likely) benign	1 lab	c317e8bfd9
19:622347 POLRMT C>G	19	622347	622347	C	G	POLRMT	c.1653G>C	NM_005035.4	NP_005026.3:p.(Gln551His)	NC_000019.9:g.622347C>G	VUS	1 lab	c31981425c
17:43364416 MAP3K14 G>A	17	43364416	43364416	G	A	MAP3K14	c.538-5C>T	NM_003954.5	NP_003945.2:p.?	NC_000017.10:g.43364416G>A	(Likely) benign	1 lab	c328bc16c4
4:1808665 FGFR3 A>C	4	1808665	1808665	A	C	FGFR3	c.2274+4A>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1808665A>C	(Likely) benign	1 lab	c328ec34cd
2:179605109 TTN T>A	2	179605109	179605109	T	A	TTN	c.12851A>T	NM_001267550.2	NP_001254479.2:p.(Gln4284Leu)	NC_000002.11:g.179605109T>A	VUS	1 lab	c3317380da
3:48613971 COL7A1 C>T	3	48613971	48613971	C	T	COL7A1	c.5720G>A	NM_000094.4	NP_000085.1:p.(Gly1907Glu)	NC_000003.11:g.48613971C>T	(Likely) pathogenic	1 lab	c331f018bf
5:149439327 CSF1R C>CG	5	149439327	149439331	C	CG	CSF1R	c.2067dup	NM_005211.4	NP_005202.2:p.(Gly690ArgfsTer11)	NC_000005.9:g.149439331dup	(Likely) pathogenic	1 lab	c3334cd7be
8:61654293 CHD7 C>T	8	61654293	61654293	C	T	CHD7	c.302C>T	NM_017780.4	NP_060250.2:p.(Pro101Leu)	NC_000008.10:g.61654293C>T	VUS	1 lab	c3380de9d2
1:55529118 PCSK9 C>T	1	55529118	55529118	C	T	PCSK9	c.1940C>T	NM_174936.4	NP_777596.2:p.(Ala647Val)	NC_000001.10:g.55529118C>T	VUS	1 lab	c3382b7245
6:56507523 DST G>A	6	56507523	56507523	G	A	DST	c.64C>T	NM_001723.7	NP_001714.1:p.(Arg22Ter)	NC_000006.11:g.56507523G>A	(Likely) pathogenic	1 lab	c3397b3df5
6:152545681 SYNE1 C>T	6	152545681	152545681	C	T	SYNE1	c.21257G>A	NM_033071.5	NP_149062.2:p.(Arg7086His)	NC_000006.11:g.152545681C>T	VUS	1 lab	c34088647b
14:50647402 SOS2 T>C	14	50647402	50647402	T	C	SOS2	c.859-2A>G	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50647402T>C	VUS	1 lab	c341efc5a4
13:32936732 BRCA2 G>T	13	32936732	32936732	G	T	BRCA2	c.7878G>T	NM_000059.4	NP_000050.3:p.(Trp2626Cys)	NC_000013.10:g.32936732G>T	(Likely) pathogenic	1 lab	c343c6b178
6:79711819 PHIP T>C	6	79711819	79711819	T	C	PHIP	c.1676A>G	NM_017934.7	NP_060404.4:p.(His559Arg)	NC_000006.11:g.79711819T>C	(Likely) pathogenic	1 lab	c3496f1c39
14:23885254 MYH7 C>T	14	23885254	23885254	C	T	MYH7	c.4912G>A	NM_000257.4	NP_000248.2:p.(Glu1638Lys)	NC_000014.8:g.23885254C>T	VUS	1 lab	c34d2e62d0
22:37329999 CSF2RB C>T	22	37329999	37329999	C	T	CSF2RB	c.1278C>T	NM_000395.3	NP_000386.1:p.(Ser426=)	NC_000022.10:g.37329999C>T	(Likely) benign	1 lab	c35150c997
6:30653522 PPP1R18 G>A	6	30653522	30653522	G	A	PPP1R18	c.274C>T	NM_133471.4	NP_597728.1:p.(Arg92Trp)	NC_000006.11:g.30653522G>A	VUS	1 lab	c354e72146
6:31996586 C4B C>T	6	31996586	31996586	C	T	C4B	c.3347C>T	NM_001002029.4	NP_001002029.3:p.(Ser1116Leu)	NC_000006.11:g.31996586C>T	VUS	1 lab	c3552dd271
11:125488441 STT3A G>A	11	125488441	125488441	G	A	STT3A	c.1948G>A	NM_001278503.2	NP_001265432.1:p.(Val650Ile)	NC_000011.9:g.125488441G>A	VUS	1 lab	c355596998
17:41243921 BRCA1 TA>T	17	41243921	41243923	TA	T	BRCA1	c.3626del	NM_007294.4	NP_009225.1:p.(Leu1209Ter)	NC_000017.10:g.41243923del	(Likely) pathogenic	1 lab	c3556b54dc
22:18918627 PRODH C>A	22	18918627	18918627	C	A	PRODH	c.358G>T	NM_016335.6	NP_057419.5:p.(Gly120Trp)	NC_000022.10:g.18918627C>A	VUS	1 lab	c358bbcbe6
5:122426109 PRDM6 C>A	5	122426109	122426109	C	A	PRDM6	c.400C>A	NM_001136239.4	NP_001129711.1:p.(Pro134Thr)	NC_000005.9:g.122426109C>A	VUS	1 lab	c35ded6bd1
15:73617360 HCN4 G>A	15	73617360	73617360	G	A	HCN4	c.1914C>T	NM_005477.3	NP_005468.1:p.(Gly638=)	NC_000015.9:g.73617360G>A	(Likely) benign	1 lab	c35e79f8e6
17:11672550 DNAH9 G>T	17	11672550	11672550	G	T	DNAH9	c.7456G>T	NM_001372.4	NP_001363.2:p.(Val2486Leu)	NC_000017.10:g.11672550G>T	VUS	1 lab	c3635cf3aa
2:122288548 RNU4ATAC G>A	2	122288548	122288548	G	A	RNU4ATAC	n.93G>A	NR_023343.1		NC_000002.11:g.122288548G>A	(Likely) benign	1 lab	c366e4c8eb
2:152352843 NEB C>G	2	152352843	152352843	C	G	NEB	c.24538G>C	NM_001271208.2	NP_001258137.2:p.(Ala8180Pro)	NC_000002.11:g.152352843C>G	(Likely) benign	1 lab	c3672eb6c3
15:43552388 TGM5 T>G	15	43552388	43552388	T	G	TGM5	c.298A>C	NM_201631.4	NP_963925.2:p.(Thr100Pro)	NC_000015.9:g.43552388T>G	VUS	1 lab	c3878d2928
19:47979845 KPTN C>T	19	47979845	47979845	C	T	KPTN	c.1126G>A	NM_007059.4	NP_008990.2:p.(Gly376Arg)	NC_000019.9:g.47979845C>T	VUS	1 lab	c36e8efc13
X:68382900 PJA1 G>A	X	68382900	68382900	G	A	PJA1	c.182C>T	NM_145119.4	NP_660095.1:p.(Pro61Leu)	NC_000023.10:g.68382900G>A	VUS	1 lab	c36f1a32dc
12:133257774 POLE G>A	12	133257774	133257774	G	A	POLE	c.154C>T	NM_006231.4	NP_006222.2:p.(Arg52Trp)	NC_000012.11:g.133257774G>A	VUS	1 lab	c37227e5cf
1:982994 AGRN T>C	1	982994	982994	T	C	AGRN	c.3558T>C	NM_198576.4	NP_940978.2:p.(Phe1186=)	NC_000001.10:g.982994T>C	(Likely) benign	1 lab	c37deb3fb1
19:35523473 SCN1B A>G	19	35523473	35523473	A	G	SCN1B	c.82A>G	NM_199037.5	NP_950238.1:p.(Thr28Ala)	NC_000019.9:g.35523473A>G	VUS	1 lab	c37fc8fc57
12:13724864 GRIN2B C>T	12	13724864	13724864	C	T	GRIN2B	c.2045G>A	NM_000834.5	NP_000825.2:p.(Arg682His)	NC_000012.11:g.13724864C>T	(Likely) pathogenic	1 lab	c3834a9a87
17:48653487 CACNA1G C>T	17	48653487	48653487	C	T	CACNA1G	c.1724C>T	NM_018896.5	NP_061496.2:p.(Ser575Phe)	NC_000017.10:g.48653487C>T	VUS	1 lab	c3860f5620
7:117171095 CFTR A>C	7	117171095	117171095	A	C	CFTR	c.416A>C	NM_000492.4	NP_000483.3:p.(His139Pro)	NC_000007.13:g.117171095A>C	VUS	1 lab	c386bcf3e9
16:88782988 PIEZO1 C>T	16	88782988	88782988	C	T	PIEZO1	c.6905G>A	NM_001142864.4	NP_001136336.2:p.(Arg2302His)	NC_000016.9:g.88782988C>T	VUS	1 lab	c38e5f8b72
1:152324866 FLG2 C>T	1	152324866	152324866	C	T	FLG2	c.5396G>A	NM_001014342.3	NP_001014364.1:p.(Arg1799Lys)	NC_000001.10:g.152324866C>T	VUS	1 lab	c394dc6ef8
14:76211899 TTLL5 A>G	14	76211899	76211899	A	G	TTLL5	c.1462A>G	NM_015072.5	NP_055887.3:p.(Thr488Ala)	NC_000014.8:g.76211899A>G	VUS	1 lab	c394efb693
3:151112518 MED12L C>T	3	151112518	151112518	C	T	MED12L	c.5578C>T	NM_053002.6	NP_443728.3:p.(Arg1860Trp)	NC_000003.11:g.151112518C>T	VUS	1 lab	c39796d235
14:23884362 MYH7 C>T	14	23884362	23884362	C	T	MYH7	c.5401G>A	NM_000257.4	NP_000248.2:p.(Glu1801Lys)	NC_000014.8:g.23884362C>T	(Likely) pathogenic	1 lab	c39c8ffeb5
17:67092472 ABCA6 G>T	17	67092472	67092472	G	T	ABCA6	c.3317C>A	NM_080284.3	NP_525023.2:p.(Ala1106Glu)	NC_000017.10:g.67092472G>T	VUS	1 lab	c39d7a3fdf
X:147800737 AFF2 G>A	X	147800737	147800737	G	A	AFF2	c.33G>A	NM_001170628.1	NP_001164099.1:p.(Pro11=)	NC_000023.10:g.147800737G>A	(Likely) benign	1 lab	c39ff2b9f4
6:7566609 DSP G>C	6	7566609	7566609	G	C	DSP	c.940-1G>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566609G>C	(Likely) pathogenic	1 lab	c3a12893c6
2:219746981 WNT10A A>T	2	219746981	219746981	A	T	WNT10A	c.212A>T	NM_025216.3	NP_079492.2:p.(Gln71Leu)	NC_000002.11:g.219746981A>T	VUS	1 lab	c3a50deb79
1:16475126 EPHA2 C>T	1	16475126	16475126	C	T	EPHA2	c.570G>A	NM_004431.5	NP_004422.2:p.(Ala190=)	NC_000001.10:g.16475126C>T	(Likely) benign	1 lab	c3ac43b263
13:49037972 RB1 G>A	13	49037972	49037972	G	A	RB1	c.2211+1G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49037972G>A	(Likely) pathogenic	1 lab	c3b40fac27
8:121228679 COL14A1 A>C	8	121228679	121228679	A	C	COL14A1	c.1687A>C	NM_021110.4	NP_066933.1:p.(Asn563His)	NC_000008.10:g.121228679A>C	(Likely) benign	1 lab	c3b685022f
1:237519242 RYR2 A>G	1	237519242	237519242	A	G	RYR2	c.274-23A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237519242A>G	(Likely) benign	1 lab	c3b9cefd4b
7:56087364 PSPH G>T	7	56087364	56087364	G	T	PSPH	c.204C>A	NM_004577.4	NP_004568.2:p.(Leu68=)	NC_000007.13:g.56087364G>T	(Likely) benign	1 lab	c3c2811e94
21:46929333 COL18A1 C>T	21	46929333	46929333	C	T	COL18A1	c.3313C>T	NM_001379500.1	NP_001366429.1:p.(Arg1105Trp)	NC_000021.8:g.46929333C>T	VUS	1 lab	c3c39a9197
2:241662964 KIF1A G>A	2	241662964	241662964	G	A	KIF1A	c.4027C>T	NM_004321.8	NP_004312.2:p.(Arg1343Trp)	NC_000002.11:g.241662964G>A	VUS	1 lab	c3c6d533d4
8:2077111 MYOM2 G>A	8	2077111	2077111	G	A	MYOM2	c.3695-4G>A	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2077111G>A	(Likely) benign	1 lab	c3c7b1258d
6:31977391 TNXA C>T	6	31977391	31977391	C	T	TNXA	n.2078G>A	NR_001284.2		NC_000006.11:g.31977391C>T	(Likely) benign	1 lab	c3cff4ca80
10:76741692 KAT6B C>A	10	76741692	76741692	C	A	KAT6B	c.2373+6C>A	NM_012330.4	NP_036462.2:p.?	NC_000010.10:g.76741692C>A	(Likely) benign	1 lab	c3d07a033e
22:24808628 SPECC1L A>T	22	24808628	24808628	A	T	SPECC1L	c.3217A>T	NM_015330.6	NP_056145.5:p.(Met1073Leu)	NC_000022.10:g.24808628A>T	(Likely) benign	1 lab	c3d08648dd
X:25031776 ARX T>TGCCGCCGCC	X	25031776	25031808	T	TGCCGCCGCC	ARX	c.327_335dup	NM_139058.3	NP_620689.1:p.(Ala113_Ala115dup)	NC_000023.10:g.25031800_25031808dup	VUS	1 lab	c3d0f12f71
2:69330051 ANTXR1 A>G	2	69330051	69330051	A	G	ANTXR1	c.781A>G	NM_032208.3	NP_115584.1:p.(Ile261Val)	NC_000002.11:g.69330051A>G	VUS	1 lab	c3d2a0d887
6:133783625 EYA4 ATCT>A	6	133783625	133783631	ATCT	A	EYA4	c.580+14_580+16del	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133783629_133783631del	(Likely) benign	1 lab	c3d779d361
17:56770008 RAD51C C>T	17	56770008	56770008	C	T	RAD51C	c.4C>T	NM_058216.3	NP_478123.1:p.(Arg2Cys)	NC_000017.10:g.56770008C>T	VUS	1 lab	c3df87f2de
19:38956847 RYR1 C>T	19	38956847	38956847	C	T	RYR1	c.2987C>T	NM_000540.3	NP_000531.2:p.(Ala996Val)	NC_000019.9:g.38956847C>T	VUS	1 lab	c3e0d27f1f
7:117250608 CFTR C>T	7	117250608	117250608	C	T	CFTR	c.3024C>T	NM_000492.4	NP_000483.3:p.(Val1008=)	NC_000007.13:g.117250608C>T	(Likely) benign	1 lab	c3e48be9ab
9:131670692 LRRC8A C>T	9	131670692	131670692	C	T	LRRC8A	c.1249C>T	NM_019594.4	NP_062540.2:p.(Arg417Trp)	NC_000009.11:g.131670692C>T	VUS	1 lab	c3ed03bd70
17:73748271 ITGB4 G>A	17	73748271	73748271	G	A	ITGB4	c.3810G>A	NM_000213.5	NP_000204.3:p.(Met1270Ile)	NC_000017.10:g.73748271G>A	VUS	1 lab	c3f00848fa
7:117246782 CFTR C>T	7	117246782	117246782	C	T	CFTR	c.2963C>T	NM_000492.4	NP_000483.3:p.(Pro988Leu)	NC_000007.13:g.117246782C>T	VUS	1 lab	c3f3f24bbe
X:99662756 PCDH19 G>C	X	99662756	99662756	G	C	PCDH19	c.840C>G	NM_001184880.2	NP_001171809.1:p.(Tyr280Ter)	NC_000023.10:g.99662756G>C	(Likely) pathogenic	1 lab	c3fd6b0b9f
13:101726861 NALCN C>G	13	101726861	101726861	C	G	NALCN	c.4103+4G>C	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101726861C>G	(Likely) benign	1 lab	c3fd74b1b4
7:101870916 CUX1 C>A	7	101870916	101870916	C	A	CUX1	c.3433C>A	NM_001202543.2	NP_001189472.1:p.(Arg1145=)	NC_000007.13:g.101870916C>A	(Likely) benign	1 lab	c3ffad07e5
3:38627529 SCN5A G>A	3	38627529	38627529	G	A	SCN5A	c.2440C>T	NM_198056.3	NP_932173.1:p.(Arg814Trp)	NC_000003.11:g.38627529G>A	(Likely) pathogenic	1 lab	c40664100b
X:32841450 DMD T>C	X	32841450	32841450	T	C	DMD	c.319A>G	NM_004006.3	NP_003997.2:p.(Thr107Ala)	NC_000023.10:g.32841450T>C	VUS	1 lab	c409362b28
12:121174899 ACADS T>C	12	121174899	121174899	T	C	ACADS	c.321T>C	NM_000017.4	NP_000008.1:p.(Arg107=)	NC_000012.11:g.121174899T>C	(Likely) benign	1 lab	c40a28f9e8
11:67803828 NDUFS8 C>G	11	67803828	67803828	C	G	NDUFS8	c.481C>G	NM_002496.4	NP_002487.1:p.(Pro161Ala)	NC_000011.9:g.67803828C>G	VUS	1 lab	c41093bbba
15:91548601 VPS33B G>A	15	91548601	91548601	G	A	VPS33B	c.1105+9C>T	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91548601G>A	(Likely) benign	1 lab	c41356a00a
2:127821223 BIN1 C>G	2	127821223	127821223	C	G	BIN1	c.699-1G>C	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127821223C>G	VUS	1 lab	c41481aee3
3:41266573 CTNNB1 C>T	3	41266573	41266573	C	T	CTNNB1	c.370C>T	NM_001904.4	NP_001895.1:p.(Arg124Cys)	NC_000003.11:g.41266573C>T	VUS	1 lab	c4162207cf
3:48623684 COL7A1 G>A	3	48623684	48623684	G	A	COL7A1	c.3551-5C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48623684G>A	(Likely) benign	1 lab	c419af9173
6:3078173 RIPK1 G>A	6	3078173	3078173	G	A	RIPK1	c.321+4G>A	NM_003804.6	NP_003795.2:p.?	NC_000006.11:g.3078173G>A	(Likely) benign	1 lab	c41c002cc3
8:2044177 MYOM2 G>A	8	2044177	2044177	G	A	MYOM2	c.2216G>A	NM_003970.4	NP_003961.3:p.(Gly739Asp)	NC_000008.10:g.2044177G>A	VUS	1 lab	c421977388
14:64692222 SYNE2 C>A	14	64692222	64692222	C	A	SYNE2	c.20702C>A	NM_182914.3	NP_878918.2:p.(Thr6901Asn)	NC_000014.8:g.64692222C>A	(Likely) benign	1 lab	c42279068c
12:33030895 PKP2 TGG>T	12	33030895	33030898	TGG	T	PKP2	c.917_918del	NM_004572.4	NP_004563.2:p.(Pro306GlnfsTer29)	NC_000012.11:g.33030897_33030898del	(Likely) pathogenic	1 lab	c4240709af
11:71146952 DHCR7 G>A	11	71146952	71146952	G	A	DHCR7	c.964-67C>T	NM_001360.3	NP_001351.2:p.?	NC_000011.9:g.71146952G>A	(Likely) benign	1 lab	c4242cfe21
2:26477125 HADHB G>GACT	2	26477125	26477129	G	GACT	HADHB	c.5_7dup	NM_000183.3	NP_000174.1:p.(Thr2dup)	NC_000002.11:g.26477127_26477129dup	(Likely) benign	1 lab	c428c3eab6
22:42910279 RRP7A A>G	22	42910279	42910279	A	G	RRP7A	c.590T>C	NM_015703.5	NP_056518.2:p.(Val197Ala)	NC_000022.10:g.42910279A>G	VUS	1 lab	c42ab6e373
9:94495547 ROR2 C>T	9	94495547	94495547	C	T	ROR2	c.794G>A	NM_004560.4	NP_004551.2:p.(Arg265His)	NC_000009.11:g.94495547C>T	VUS	1 lab	c42ddbf4e3
17:39659183 KRT13 G>A	17	39659183	39659183	G	A	KRT13	c.897+6C>T	NM_153490.3	NP_705694.3:p.?	NC_000017.10:g.39659183G>A	(Likely) benign	1 lab	c431d5812b
16:89857964 FANCA T>C	16	89857964	89857964	T	C	FANCA	c.1226-20A>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89857964T>C	(Likely) benign	1 lab	c435dcb08d
2:47702411 MSH2 T>TA	2	47702411	47702417	T	TA	MSH2	c.2005+8dup	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702417dup	(Likely) benign	1 lab	c43782b655
15:57921982 MYZAP T>C	15	57921982	57921982	T	C	MYZAP	c.608T>C	NM_001018100.5	NP_001018110.1:p.(Met203Thr)	NC_000015.9:g.57921982T>C	VUS	1 lab	c43b0c1c63
2:241536279 CAPN10 C>T	2	241536279	241536279	C	T	CAPN10	c.1663C>T	NM_023083.4	NP_075571.2:p.(Arg555Cys)	NC_000002.11:g.241536279C>T	(Likely) benign	1 lab	c43e2848e4
6:137146351 PEX7 G>A	6	137146351	137146351	G	A	PEX7	c.131-1G>A	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137146351G>A	(Likely) pathogenic	1 lab	c43f2203ae
5:112178756 APC C>A	5	112178756	112178756	C	A	APC	c.7465C>A	NM_000038.6	NP_000029.2:p.(Pro2489Thr)	NC_000005.9:g.112178756C>A	VUS	1 lab	c43f368d57
14:102510249 DYNC1H1 C>G	14	102510249	102510249	C	G	DYNC1H1	c.12551C>G	NM_001376.5	NP_001367.2:p.(Ala4184Gly)	NC_000014.8:g.102510249C>G	VUS	1 lab	c446309a9a
2:121742146 GLI2 G>A	2	121742146	121742146	G	A	GLI2	c.1783G>A	NM_005270.5	NP_005261.2:p.(Val595Ile)	NC_000002.11:g.121742146G>A	(Likely) benign	1 lab	c44635d2d0
11:67254605 AIP C>T	11	67254605	67254605	C	T	AIP	c.228C>T	NM_003977.4	NP_003968.3:p.(Ile76=)	NC_000011.9:g.67254605C>T	(Likely) benign	1 lab	c44694d4f1
15:99454583 IGF1R C>G	15	99454583	99454583	C	G	IGF1R	c.1502C>G	NM_000875.5	NP_000866.1:p.(Ser501Trp)	NC_000015.9:g.99454583C>G	VUS	1 lab	c448093854
17:78081307 GAA C>T	17	78081307	78081307	C	T	GAA	c.693-49C>T	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78081307C>T	(Likely) benign	1 lab	c448155512
10:112572053 RBM20 C>T	10	112572053	112572053	C	T	RBM20	c.1898C>T	NM_001134363.3	NP_001127835.2:p.(Pro633Leu)	NC_000010.10:g.112572053C>T	VUS	1 lab	c44b106d3e
2:179444320 TTN C>T	2	179444320	179444320	C	T	TTN	c.67604G>A	NM_001267550.2	NP_001254479.2:p.(Ser22535Asn)	NC_000002.11:g.179444320C>T	VUS	1 lab	c44d570515
22:26853905 HPS4 C>A	22	26853905	26853905	C	A	HPS4	c.1875G>T	NM_022081.6	NP_071364.4:p.(Gln625His)	NC_000022.10:g.26853905C>A	(Likely) benign	1 lab	c4547d6835
5:110456704 WDR36 A>T	5	110456704	110456704	A	T	WDR36	c.2013A>T	NM_139281.3	NP_644810.2:p.(Val671=)	NC_000005.9:g.110456704A>T	(Likely) benign	1 lab	c457417dd8
3:130672718 ATP2C1 T>C	3	130672718	130672718	T	C	ATP2C1	c.585T>C	NM_001199179.3	NP_001186108.1:p.(Cys195=)	NC_000003.11:g.130672718T>C	(Likely) benign	1 lab	c45a594e35
12:22068823 ABCC9 G>T	12	22068823	22068823	G	T	ABCC9	c.595C>A	NM_005691.4	NP_005682.2:p.(Pro199Thr)	NC_000012.11:g.22068823G>T	VUS	1 lab	c45da57ae6
5:86672849 RASA1 G>A	5	86672849	86672849	G	A	RASA1	c.2336G>A	NM_002890.3	NP_002881.1:p.(Ser779Asn)	NC_000005.9:g.86672849G>A	VUS	1 lab	c45e7f16cf
1:23640100 HNRNPR C>T	1	23640100	23640100	C	T	HNRNPR	c.1122G>A	NM_001102398.3	NP_001095868.1:p.(Lys374=)	NC_000001.10:g.23640100C>T	(Likely) benign	1 lab	c46bd1d956
16:70977769 HYDIN C>T	16	70977769	70977769	C	T	HYDIN	c.6615G>A	NM_001270974.2	NP_001257903.1:p.(Met2205Ile)	NC_000016.9:g.70977769C>T	VUS	1 lab	c4705e29ea
2:179598070 TTN T>A	2	179598070	179598070	T	A	TTN	c.15950A>T	NM_001267550.2	NP_001254479.2:p.(Gln5317Leu)	NC_000002.11:g.179598070T>A	(Likely) benign	1 lab	c471499ec8
X:99657676 PCDH19 A>G	X	99657676	99657676	A	G	PCDH19	c.2462T>C	NM_001184880.2	NP_001171809.1:p.(Leu821Pro)	NC_000023.10:g.99657676A>G	VUS	1 lab	c4730f047b
17:56770011 RAD51C G>A	17	56770011	56770011	G	A	RAD51C	c.7G>A	NM_058216.3	NP_478123.1:p.(Gly3Arg)	NC_000017.10:g.56770011G>A	VUS	1 lab	c473bef301
13:32969038 BRCA2 GA>G	13	32969038	32969039	GA	G	BRCA2	c.9470del	NM_000059.4	NP_000050.3:p.(Glu3157GlyfsTer6)	NC_000013.10:g.32969039del	(Likely) pathogenic	1 lab	c475f810a3
22:36960780 CACNG2 G>A	22	36960780	36960780	G	A	CACNG2	c.590C>T	NM_006078.5	NP_006069.1:p.(Ala197Val)	NC_000022.10:g.36960780G>A	VUS	1 lab	c4781dcba8
16:88782116 PIEZO1 C>G	16	88782116	88782116	C	G	PIEZO1	c.7463G>C	NM_001142864.4	NP_001136336.2:p.(Arg2488Pro)	NC_000016.9:g.88782116C>G	VUS	1 lab	c478d01e78
4:46307593 GABRA2 G>C	4	46307593	46307593	G	C	GABRA2	c.695C>G	NM_001114175.3	NP_001107647.1:p.(Ser232Cys)	NC_000004.11:g.46307593G>C	VUS	1 lab	c47cd86710
10:51568378 NCOA4 T>G	10	51568378	51568378	T	G	NCOA4	c.22T>G	NM_001145260.2	NP_001138732.1:p.(Phe8Val)	NC_000010.10:g.51568378T>G	(Likely) benign	1 lab	c47e630c50
3:185635511 TRA2B G>A	3	185635511	185635511	G	A	TRA2B	c.859C>T	NM_004593.3	NP_004584.1:p.(Arg287Cys)	NC_000003.11:g.185635511G>A	VUS	1 lab	c48047a304
1:237995959 RYR2 A>G	1	237995959	237995959	A	G	RYR2	c.*12A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237995959A>G	VUS	1 lab	c4807292bf
14:77686399 TMEM63C A>C	14	77686399	77686399	A	C	TMEM63C	c.281A>C	NM_020431.4	NP_065164.2:p.(Glu94Ala)	NC_000014.8:g.77686399A>C	VUS	1 lab	c482223228
12:57501020 STAT6 C>T	12	57501020	57501020	C	T	STAT6	c.333G>A	NM_003153.5	NP_003144.3:p.(Met111Ile)	NC_000012.11:g.57501020C>T	VUS	1 lab	c489fa8cde
7:100421469 EPHB4 C>T	7	100421469	100421469	C	T	EPHB4	c.208G>A	NM_004444.5	NP_004435.3:p.(Ala70Thr)	NC_000007.13:g.100421469C>T	VUS	1 lab	c48af7890f
1:209803992 LAMB3 G>A	1	209803992	209803992	G	A	LAMB3	c.911C>T	NM_000228.3	NP_000219.2:p.(Pro304Leu)	NC_000001.10:g.209803992G>A	VUS	1 lab	c4ab309552
2:160189095 BAZ2B T>C	2	160189095	160189095	T	C	BAZ2B	c.5791A>G	NM_001289975.1	NP_001276904.1:p.(Thr1931Ala)	NC_000002.11:g.160189095T>C	VUS	1 lab	c4956ada2c
10:95108973 MYOF C>T	10	95108973	95108973	C	T	MYOF	c.4083+592G>A	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95108973C>T	(Likely) benign	1 lab	c499597c97
3:189586410 TP63 G>T	3	189586410	189586410	G	T	TP63	c.1034G>T	NM_003722.5	NP_003713.3:p.(Cys345Phe)	NC_000003.11:g.189586410G>T	(Likely) pathogenic	1 lab	c49c729443
1:22149935 LDLRAD2 T>C	1	22149935	22149935	T	C	LDLRAD2	c.*1227T>C	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149935T>C	(Likely) benign	1 lab	c4a14d46a6
9:712156 KANK1 T>G	9	712156	712156	T	G	KANK1	c.1390T>G	NM_001256877.3	NP_001243806.1:p.(Ser464Ala)	NC_000009.11:g.712156T>G	(Likely) benign	1 lab	c4a6263a7a
18:7026101 LAMA1 C>G	18	7026101	7026101	C	G	LAMA1	c.2279G>C	NM_005559.4	NP_005550.2:p.(Cys760Ser)	NC_000018.9:g.7026101C>G	VUS	1 lab	c4a65f684c
7:35288347 TBX20 C>A	7	35288347	35288347	C	A	TBX20	c.487G>T	NM_001077653.2	NP_001071121.1:p.(Ala163Ser)	NC_000007.13:g.35288347C>A	VUS	1 lab	c4a70d43fd
14:91763637 CCDC88C C>T	14	91763637	91763637	C	T	CCDC88C	c.3966+12G>A	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91763637C>T	(Likely) benign	1 lab	c4a916c7e1
11:20648270 SLC6A5 C>G	11	20648270	20648270	C	G	SLC6A5	c.1277C>G	NM_004211.5	NP_004202.4:p.(Ala426Gly)	NC_000011.9:g.20648270C>G	VUS	1 lab	c4ad74c1b1
1:76342664 MSH4 A>C	1	76342664	76342664	A	C	MSH4	c.1349A>C	NM_002440.4	NP_002431.2:p.(Tyr450Ser)	NC_000001.10:g.76342664A>C	VUS	1 lab	d9f6ebac6b
2:207636605 FASTKD2 G>A	2	207636605	207636605	G	A	FASTKD2	c.991-13G>A	NM_014929.4	NP_055744.2:p.?	NC_000002.11:g.207636605G>A	(Likely) benign	1 lab	c4ae89e833
7:114066636 FOXP2 A>G	7	114066636	114066636	A	G	FOXP2	c.70A>G	NM_014491.4	NP_055306.1:p.(Ser24Gly)	NC_000007.13:g.114066636A>G	(Likely) benign	1 lab	c4aef5d198
8:61765652 CHD7 C>T	8	61765652	61765652	C	T	CHD7	c.6368C>T	NM_017780.4	NP_060250.2:p.(Ser2123Phe)	NC_000008.10:g.61765652C>T	VUS	1 lab	c4bb844cc9
X:32841428 DMD A>G	X	32841428	32841428	A	G	DMD	c.341T>C	NM_004006.3	NP_003997.2:p.(Ile114Thr)	NC_000023.10:g.32841428A>G	VUS	1 lab	c4bbbf8159
X:32466746 DMD C>T	X	32466746	32466746	C	T	DMD	c.3613G>A	NM_004006.3	NP_003997.2:p.(Glu1205Lys)	NC_000023.10:g.32466746C>T	VUS	1 lab	c4bc4a7d98
8:133440072 KCNQ3 C>A	8	133440072	133440072	C	A	KCNQ3	c.386+52322G>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133440072C>A	(Likely) benign	1 lab	c4bc6e45f3
9:21974684 CDKN2A G>A	9	21974684	21974684	G	A	CDKN2A	c.143C>T	NM_000077.5	NP_000068.1:p.(Pro48Leu)	NC_000009.11:g.21974684G>A	(Likely) pathogenic	1 lab	c4bdb46c0c
3:9785444 BRPF1 C>T	3	9785444	9785444	C	T	BRPF1	c.2494C>T	NM_001003694.2	NP_001003694.1:p.(Gln832Ter)	NC_000003.11:g.9785444C>T	(Likely) pathogenic	1 lab	c4c57c43c4
X:70361097 MED12 ACAGCAG>A	X	70361097	70361120	ACAGCAG	A	MED12	c.6303_6308del	NM_005120.3	NP_005111.2:p.(Gln2114_Gln2115del)	NC_000023.10:g.70361115_70361120del	VUS	1 lab	c4c6bf0bc6
1:193219827 CDC73 G>A	1	193219827	193219827	G	A	CDC73	c.1581G>A	NM_024529.5	NP_078805.3:p.(Ser527=)	NC_000001.10:g.193219827G>A	(Likely) benign	1 lab	c4c83dac1c
5:79961183 MSH3 G>A	5	79961183	79961183	G	A	MSH3	c.579+1G>A	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79961183G>A	(Likely) pathogenic	1 lab	c4cb6754f3
2:209184999 PIKFYVE C>T	2	209184999	209184999	C	T	PIKFYVE	c.2106C>T	NM_015040.4	NP_055855.2:p.(Pro702=)	NC_000002.11:g.209184999C>T	(Likely) benign	1 lab	c4cd4c612e
11:640089 DRD4 CG>C	11	640089	640090	CG	C	DRD4	c.841del	NM_000797.4	NP_000788.2:p.(Ala281ProfsTer65)	NC_000011.9:g.640090del	(Likely) benign	1 lab	c4cf5540f7
16:2811692 SRRM2 A>G	16	2811692	2811692	A	G	SRRM2	c.1163A>G	NM_016333.4	NP_057417.3:p.(Gln388Arg)	NC_000016.9:g.2811692A>G	VUS	1 lab	c4d027ac07
20:49509994 ADNP T>G	20	49509994	49509994	T	G	ADNP	c.1257A>C	NM_015339.5	NP_056154.1:p.(Arg419Ser)	NC_000020.10:g.49509994T>G	VUS	1 lab	c4d8016a98
1:207646322 CR2 G>A	1	207646322	207646322	G	A	CR2	c.1776G>A	NM_001006658.3	NP_001006659.1:p.(Leu592=)	NC_000001.10:g.207646322G>A	(Likely) benign	1 lab	c4dac9a98c
12:46211514 ARID2 ATTG>A	12	46211514	46211517	ATTG	A	ARID2	c.481_483del	NM_152641.4	NP_689854.2:p.(Leu161del)	NC_000012.11:g.46211515_46211517del	(Likely) pathogenic	1 lab	c4e1e9c7bf
11:47353800 MYBPC3 A>G	11	47353800	47353800	A	G	MYBPC3	c.3637T>C	NM_000256.3	NP_000247.2:p.(Ser1213Pro)	NC_000011.9:g.47353800A>G	VUS	1 lab	c4e342941a
18:48591777 SMAD4 C>T	18	48591777	48591777	C	T	SMAD4	c.956-16C>T	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48591777C>T	(Likely) benign	1 lab	c4e503b7e0
20:62325806 RTEL1 G>T	20	62325806	62325806	G	T	RTEL1	c.3146G>T	NM_032957.5	NP_116575.3:p.(Gly1049Val)	NC_000020.10:g.62325806G>T	VUS	1 lab	c4e5925b18
2:85893772 SFTPB G>C	2	85893772	85893772	G	C	SFTPB	c.361C>G	NM_198843.3	NP_942140.3:p.(Pro121Ala)	NC_000002.11:g.85893772G>C	(Likely) pathogenic	1 lab	c4e963877f
16:23226064 SCNN1G A>G	16	23226064	23226064	A	G	SCNN1G	c.1525A>G	NM_001039.4	NP_001030.2:p.(Lys509Glu)	NC_000016.9:g.23226064A>G	VUS	1 lab	c4ef3995e7
15:28465618 HERC2 G>A	15	28465618	28465618	G	A	HERC2	c.5825C>T	NM_004667.6	NP_004658.3:p.(Ser1942Leu)	NC_000015.9:g.28465618G>A	VUS	1 lab	c4efe3bc9a
10:103454402 FBXW4 A>T	10	103454402	103454402	A	T	FBXW4	c.461T>A	NM_022039.4	NP_071322.2:p.(Val154Glu)	NC_000010.10:g.103454402A>T	(Likely) benign	1 lab	c4f01effae
15:85406143 ALPK3 C>G	15	85406143	85406143	C	G	ALPK3	c.4407C>G	NM_020778.5	NP_065829.4:p.(Ile1469Met)	NC_000015.9:g.85406143C>G	VUS	1 lab	c4f0f6ed49
15:56388088 RFX7 G>A	15	56388088	56388088	G	A	RFX7	c.1838C>T	NM_022841.7	NP_073752.6:p.(Thr613Met)	NC_000015.9:g.56388088G>A	VUS	1 lab	c4f295cd76
X:153220004 HCFC1 C>T	X	153220004	153220004	C	T	HCFC1	c.3846G>A	NM_005334.3	NP_005325.2:p.(Ser1282=)	NC_000023.10:g.153220004C>T	(Likely) benign	1 lab	c508ce5dd1
18:34174819 FHOD3 C>T	18	34174819	34174819	C	T	FHOD3	c.676C>T	NM_025135.5	NP_079411.2:p.(Pro226Ser)	NC_000018.9:g.34174819C>T	VUS	1 lab	c50a26a6e8
11:66512290 TOP6BL G>GGGCGGCGGCGGC	11	66512290	66512316	G	GGGCGGCGGCGGC	TOP6BL	c.92_103dup	NM_024650.3	NP_078926.3:p.(Ala31_Ala34dup)	NC_000011.9:g.66512305_66512316dup	VUS	1 lab	c50d71d334
22:24891452 UPB1 C>T	22	24891452	24891452	C	T	UPB1	c.81C>T	NM_016327.3	NP_057411.1:p.(Arg27=)	NC_000022.10:g.24891452C>T	(Likely) benign	1 lab	c50f6e24f8
6:87967728 ZNF292 C>T	6	87967728	87967728	C	T	ZNF292	c.4381C>T	NM_015021.3	NP_055836.1:p.(Arg1461Cys)	NC_000006.11:g.87967728C>T	(Likely) benign	1 lab	c5113860c9
10:1132249 WDR37 A>G	10	1132249	1132249	A	G	WDR37	c.556A>G	NM_014023.4	NP_054742.2:p.(Ile186Val)	NC_000010.10:g.1132249A>G	VUS	1 lab	c52321b1d0
2:179412133 TTN C>A	2	179412133	179412133	C	A	TTN	c.94219+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179412133C>A	(Likely) pathogenic	1 lab	c523c0aaec
X:122528803 GRIA3 T>C	X	122528803	122528803	T	C	GRIA3	c.751-16T>C	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122528803T>C	(Likely) benign	1 lab	c524755ae8
1:197070594 ASPM ACTTT>A	1	197070594	197070600	ACTTT	A	ASPM	c.7783_7786del	NM_018136.5	NP_060606.3:p.(Lys2595TyrfsTer20)	NC_000001.10:g.197070597_197070600del	(Likely) pathogenic	1 lab	f50b2dd67f
3:171321041 PLD1 C>T	3	171321041	171321041	C	T	PLD1	c.3052G>A	NM_002662.5	NP_002653.1:p.(Asp1018Asn)	NC_000003.11:g.171321041C>T	VUS	1 lab	c52c6d2a1b
20:30797891 POFUT1 G>A	20	30797891	30797891	G	A	POFUT1	c.142G>A	NM_015352.2	NP_056167.1:p.(Ala48Thr)	NC_000020.10:g.30797891G>A	VUS	1 lab	c52dccadc5
13:48563036 SUCLA2 C>T	13	48563036	48563036	C	T	SUCLA2	c.352G>A	NM_003850.3	NP_003841.1:p.(Gly118Arg)	NC_000013.10:g.48563036C>T	(Likely) pathogenic	1 lab	c5319f38b4
11:27414071 LGR4 G>T	11	27414071	27414071	G	T	LGR4	c.258-6C>A	NM_018490.5	NP_060960.2:p.?	NC_000011.9:g.27414071G>T	(Likely) benign	1 lab	c533830a47
18:21121090 NPC1 C>A	18	21121090	21121090	C	A	NPC1	c.2456G>T	NM_000271.5	NP_000262.2:p.(Arg819Leu)	NC_000018.9:g.21121090C>A	VUS	1 lab	c533d677a8
2:179435467 TTN AC>A	2	179435467	179435469	AC	A	TTN	c.75391del	NM_001267550.2	NP_001254479.2:p.(Val25131LeufsTer16)	NC_000002.11:g.179435469del	(Likely) pathogenic	1 lab	c536e5289e
1:23208843 EPHB2 C>G	1	23208843	23208843	C	G	EPHB2	c.1304-9C>G	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23208843C>G	(Likely) benign	1 lab	c5376e21c5
19:11097211 SMARCA4 T>TGGCCCTGGCCCC	19	11097211	11097228	T	TGGCCCTGGCCCC	SMARCA4	c.708_719dup	NM_001128844.3	NP_001122316.1:p.(Gly241_Pro244dup)	NC_000019.9:g.11097217_11097228dup	(Likely) benign	1 lab	c53892976d
17:65882304 BPTF C>T	17	65882304	65882304	C	T	BPTF	c.2114C>T	NM_004459.7	NP_004450.3:p.(Pro705Leu)	NC_000017.10:g.65882304C>T	VUS	1 lab	c5399660d7
7:107533708 DLD T>TA	7	107533708	107533709	T	TA	DLD	c.104dup	NM_000108.5	NP_000099.2:p.(Tyr35Ter)	NC_000007.13:g.107533709dup	(Likely) pathogenic	1 lab	c540457c28
1:115260842 CSDE1 G>T	1	115260842	115260842	G	T	CSDE1	c.2395-5C>A	NM_001130523.3	NP_001123995.1:p.?	NC_000001.10:g.115260842G>T	(Likely) benign	1 lab	c54dc33854
3:9490265 SETD5 G>C	3	9490265	9490265	G	C	SETD5	c.2297G>C	NM_001080517.3	NP_001073986.1:p.(Arg766Thr)	NC_000003.11:g.9490265G>C	VUS	1 lab	c555009a2e
8:133141858 KCNQ3 C>T	8	133141858	133141858	C	T	KCNQ3	c.2270G>A	NM_004519.4	NP_004510.1:p.(Arg757Gln)	NC_000008.10:g.133141858C>T	(Likely) benign	1 lab	c555abd206
5:171337816 FBXW11 C>CA	5	171337816	171337826	C	CA	FBXW11	c.148-16dup	NM_012300.3	NP_036432.2:p.?	NC_000005.9:g.171337826dup	(Likely) benign	1 lab	c55c2f1c06
14:36988207 NKX2-1 T>G	14	36988207	36988207	T	G	NKX2-1	c.356A>C	NM_003317.4	NP_003308.1:p.(Asp119Ala)	NC_000014.8:g.36988207T>G	VUS	1 lab	c56171e4f0
6:56483853 DST AC>A	6	56483853	56483855	AC	A	DST	c.4978del	NM_001723.7	NP_001714.1:p.(Val1660Ter)	NC_000006.11:g.56483855del	(Likely) pathogenic	1 lab	c56ebfd1c3
4:74302071 AFP T>A	4	74302071	74302071	T	A	AFP	c.85+7T>A	NM_001134.3	NP_001125.1:p.?	NC_000004.11:g.74302071T>A	(Likely) benign	1 lab	c571e2e0bd
7:100417422 EPHB4 G>A	7	100417422	100417422	G	A	EPHB4	c.1054C>T	NM_004444.5	NP_004435.3:p.(Arg352Ter)	NC_000007.13:g.100417422G>A	(Likely) pathogenic	1 lab	c578590317
1:22216574 HSPG2 C>A	1	22216574	22216574	C	A	HSPG2	c.474G>T	NM_005529.7	NP_005520.4:p.(Gly158=)	NC_000001.10:g.22216574C>A	(Likely) benign	1 lab	c57a94dd95
6:41874977 MED20 G>A	6	41874977	41874977	G	A	MED20	c.472C>T	NM_004275.5	NP_004266.2:p.(Leu158Phe)	NC_000006.11:g.41874977G>A	VUS	1 lab	c57e93ecaf
16:111423 RHBDF1 T>C	16	111423	111423	T	C	RHBDF1	c.1355A>G	NM_022450.5	NP_071895.3:p.(Lys452Arg)	NC_000016.9:g.111423T>C	VUS	1 lab	c582d682eb
22:24133981 SMARCB1 C>A	22	24133981	24133981	C	A	SMARCB1	c.132C>A	NM_003073.5	NP_003064.2:p.(Tyr44Ter)	NC_000022.10:g.24133981C>A	(Likely) pathogenic	1 lab	c5874855bb
11:108382899 EXPH5 T>TAGA	11	108382899	108382900	T	TAGA	EXPH5	c.3334_3335insTCT	NM_015065.3	NP_055880.2:p.(Lys1112delinsIleTer)	NC_000011.9:g.108382899_108382900insAGA	(Likely) pathogenic	1 lab	c58847c0e4
13:48547445 SUCLA2 T>C	13	48547445	48547445	T	C	SUCLA2	c.617A>G	NM_003850.3	NP_003841.1:p.(Glu206Gly)	NC_000013.10:g.48547445T>C	VUS	1 lab	c588965f3f
4:8418164 ACOX3 A>T	4	8418164	8418164	A	T	ACOX3	c.85T>A	NM_003501.3	NP_003492.2:p.(Ser29Thr)	NC_000004.11:g.8418164A>T	VUS	1 lab	c588c6b1fb
18:52901778 TCF4 C>A	18	52901778	52901778	C	A	TCF4	c.1486+1G>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52901778C>A	(Likely) pathogenic	1 lab	c589b86fb3
1:12353624 VPS13D C>T	1	12353624	12353624	C	T	VPS13D	c.5896C>T	NM_015378.4	NP_056193.2:p.(Arg1966Cys)	NC_000001.10:g.12353624C>T	VUS	1 lab	c58cd37863
2:207656535 FASTKD2 T>C	2	207656535	207656535	T	C	FASTKD2	c.*9T>C	NM_014929.4	NP_055744.2:p.?	NC_000002.11:g.207656535T>C	(Likely) benign	1 lab	c58f921ea3
1:22413226 CDC42 A>G	1	22413226	22413226	A	G	CDC42	c.353A>G	NM_001039802.2	NP_001034891.1:p.(Asp118Gly)	NC_000001.10:g.22413226A>G	VUS	1 lab	c595e489ba
19:12812612 TNPO2 C>T	19	12812612	12812612	C	T	TNPO2	c.2465G>A	NM_001136196.2	NP_001129668.1:p.(Arg822His)	NC_000019.9:g.12812612C>T	VUS	1 lab	c5965761f8
14:74766352 ABCD4 A>G	14	74766352	74766352	A	G	ABCD4	c.184T>C	NM_005050.4	NP_005041.1:p.(Leu62=)	NC_000014.8:g.74766352A>G	(Likely) benign	1 lab	c596aeb14b
2:210752814 UNC80 T>C	2	210752814	210752814	T	C	UNC80	c.4117-5T>C	NM_032504.2	NP_115893.1:p.?	NC_000002.11:g.210752814T>C	(Likely) benign	1 lab	c59eb9952a
12:49428619 KMT2D A>ATGC	12	49428619	49428625	A	ATGC	KMT2D	c.10328_10330dup	NM_003482.4	NP_003473.3:p.(Ser3443dup)	NC_000012.11:g.49428623_49428625dup	VUS	1 lab	c5a04d330b
12:122294508 HPD C>A	12	122294508	122294508	C	A	HPD	c.222G>T	NM_002150.3	NP_002141.2:p.(Ala74=)	NC_000012.11:g.122294508C>A	(Likely) benign	1 lab	c5a1e05997
16:23647244 PALB2 T>A	16	23647244	23647244	T	A	PALB2	c.623A>T	NM_024675.4	NP_078951.2:p.(Asp208Val)	NC_000016.9:g.23647244T>A	VUS	1 lab	c5a811664e
7:84629047 SEMA3D C>G	7	84629047	84629047	C	G	SEMA3D	c.2043G>C	NM_152754.3	NP_689967.2:p.(Leu681Phe)	NC_000007.13:g.84629047C>G	VUS	1 lab	c5adc0cf40
13:32914148 BRCA2 C>T	13	32914148	32914148	C	T	BRCA2	c.5656C>T	NM_000059.4	NP_000050.3:p.(Gln1886Ter)	NC_000013.10:g.32914148C>T	(Likely) pathogenic	1 lab	c5af77eb97
3:58108980 FLNB C>T	3	58108980	58108980	C	T	FLNB	c.3287C>T	NM_001457.4	NP_001448.2:p.(Ser1096Phe)	NC_000003.11:g.58108980C>T	VUS	1 lab	c5b051ce0c
12:52712975 KRT83 G>A	12	52712975	52712975	G	A	KRT83	c.558C>T	NM_002282.3	NP_002273.3:p.(Asn186=)	NC_000012.11:g.52712975G>A	(Likely) benign	1 lab	c5b68aa253
7:55266417 EGFR T>C	7	55266417	55266417	T	C	EGFR	c.2709T>C	NM_005228.5	NP_005219.2:p.(Thr903=)	NC_000007.13:g.55266417T>C	(Likely) benign	1 lab	c5b8b638a8
12:49448773 KMT2D G>C	12	49448773	49448773	G	C	KMT2D	c.86C>G	NM_003482.4	NP_003473.3:p.(Thr29Ser)	NC_000012.11:g.49448773G>C	VUS	1 lab	c5bedc81d4
10:135099000 TUBGCP2 C>T	10	135099000	135099000	C	T	TUBGCP2	c.1939G>A	NM_001256617.2	NP_001243546.1:p.(Asp647Asn)	NC_000010.10:g.135099000C>T	VUS	1 lab	c5c5b6cea2
14:88852279 SPATA7 TG>T	14	88852279	88852283	TG	T	SPATA7	c.19+102del	NM_018418.5	NP_060888.2:p.?	NC_000014.8:g.88852283del	(Likely) benign	1 lab	c5c619903d
3:4718447 ITPR1 G>A	3	4718447	4718447	G	A	ITPR1	c.2857G>A	NM_002222.7	NP_002213.5:p.(Val953Ile)	NC_000003.11:g.4718447G>A	VUS	1 lab	c5c66a582f
3:183899838 AP2M1 G>A	3	183899838	183899838	G	A	AP2M1	c.963+3G>A	NM_004068.4	NP_004059.2:p.?	NC_000003.11:g.183899838G>A	(Likely) benign	1 lab	c5c6ac293a
17:39728194 KRT9 A>C	17	39728194	39728194	A	C	KRT9	c.51T>G	NM_000226.4	NP_000217.2:p.(Gly17=)	NC_000017.10:g.39728194A>C	(Likely) benign	1 lab	c5c927b1d0
17:33428231 RAD51D A>G	17	33428231	33428231	A	G	RAD51D	c.892T>C	NM_002878.4	NP_002869.3:p.(Ser298Pro)	NC_000017.10:g.33428231A>G	VUS	1 lab	c5cc89a83c
5:112154868 APC G>A	5	112154868	112154868	G	A	APC	c.1139G>A	NM_000038.6	NP_000029.2:p.(Arg380Gln)	NC_000005.9:g.112154868G>A	VUS	1 lab	c5ce2232f5
16:88801402 PIEZO1 C>T	16	88801402	88801402	C	T	PIEZO1	c.1729G>A	NM_001142864.4	NP_001136336.2:p.(Ala577Thr)	NC_000016.9:g.88801402C>T	VUS	1 lab	c5d5043c65
18:29126636 DSG2 C>A	18	29126636	29126636	C	A	DSG2	c.3287C>A	NM_001943.5	NP_001934.2:p.(Ser1096Tyr)	NC_000018.9:g.29126636C>A	VUS	1 lab	c5d56ef109
5:147503528 SPINK5 G>A	5	147503528	147503528	G	A	SPINK5	c.2666+5G>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147503528G>A	(Likely) benign	1 lab	c5d5a491e3
3:9517375 SETD5 C>T	3	9517375	9517375	C	T	SETD5	c.3929C>T	NM_001080517.3	NP_001073986.1:p.(Ser1310Leu)	NC_000003.11:g.9517375C>T	(Likely) benign	1 lab	c5d8173cff
11:126294817 KIRREL3 G>A	11	126294817	126294817	G	A	KIRREL3	c.1995C>T	NM_032531.4	NP_115920.1:p.(Gly665=)	NC_000011.9:g.126294817G>A	(Likely) benign	1 lab	c5d8d7edea
17:27065189 NEK8 G>A	17	27065189	27065189	G	A	NEK8	c.1148G>A	NM_178170.3	NP_835464.1:p.(Arg383His)	NC_000017.10:g.27065189G>A	VUS	1 lab	c5e38d0d12
10:118957001 KCNK18 TG>T	10	118957001	118957003	TG	T	KCNK18	c.4del	NM_181840.1	NP_862823.1:p.(Glu2ArgfsTer30)	NC_000010.10:g.118957003del	VUS	1 lab	c5e79fd70b
1:193094336 CDC73 C>T	1	193094336	193094336	C	T	CDC73	c.226C>T	NM_024529.5	NP_078805.3:p.(Arg76Ter)	NC_000001.10:g.193094336C>T	(Likely) pathogenic	1 lab	c5fdcdd70a
19:42776705 CIC C>T	19	42776705	42776705	C	T	CIC	c.770C>T	NM_001304815.2	NP_001291744.1:p.(Ala257Val)	NC_000019.9:g.42776705C>T	(Likely) benign	1 lab	c5fe950d74
8:145001132 PLEC G>A	8	145001132	145001132	G	A	PLEC	c.4356+13C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145001132G>A	(Likely) benign	1 lab	c602dd88a0
4:985727 IDUA A>G	4	985727	985727	A	G	IDUA	c.299+3990A>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.985727A>G	(Likely) benign	1 lab	c607737efa
10:16932508 CUBN C>T	10	16932508	16932508	C	T	CUBN	c.8617G>A	NM_001081.4	NP_001072.2:p.(Glu2873Lys)	NC_000010.10:g.16932508C>T	VUS	1 lab	c609a4a07a
10:102749506 TWNK G>A	10	102749506	102749506	G	A	TWNK	c.1349G>A	NM_001163812.2	NP_001157284.1:p.(Arg450Lys)	NC_000010.10:g.102749506G>A	VUS	1 lab	c60b1bddb8
10:105816731 COL17A1 A>G	10	105816731	105816731	A	G	COL17A1	c.1465+2T>C	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105816731A>G	(Likely) pathogenic	1 lab	c60d7fef79
11:19209762 CSRP3 G>C	11	19209762	19209762	G	C	CSRP3	c.202C>G	NM_003476.5	NP_003467.1:p.(Pro68Ala)	NC_000011.9:g.19209762G>C	VUS	1 lab	c60f498b28
12:80900397 PTPRQ C>G	12	80900397	80900397	C	G	PTPRQ	c.2505C>G	NM_001145026.2	NP_001138498.1:p.(Leu835=)	NC_000012.11:g.80900397C>G	(Likely) benign	1 lab	c60f987a5c
1:3201901 PRDM16 C>A	1	3201901	3201901	C	A	PRDM16	c.438+41200C>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3201901C>A	VUS	1 lab	c610515e2b
10:43622217 RET T>C	10	43622217	43622217	T	C	RET	c.*15T>C	NM_020630.6	NP_065681.1:p.?	NC_000010.10:g.43622217T>C	(Likely) benign	1 lab	c6106db3cf
1:3342282 PRDM16 A>C	1	3342282	3342282	A	C	PRDM16	c.3077A>C	NM_022114.4	NP_071397.3:p.(His1026Pro)	NC_000001.10:g.3342282A>C	VUS	1 lab	c611b9fa36
22:19750816 TBX1 G>C	22	19750816	19750816	G	C	TBX1	c.463G>C	NM_080647.1	NP_542378.1:p.(Asp155His)	NC_000022.10:g.19750816G>C	VUS	1 lab	c611fb83c7
3:123033173 ADCY5 G>A	3	123033173	123033173	G	A	ADCY5	c.2355-4C>T	NM_183357.3	NP_899200.1:p.?	NC_000003.11:g.123033173G>A	(Likely) benign	1 lab	c61561a91c
17:16836425 TBC1D27P G>A	17	16836425	16836425	G	A	TBC1D27P	n.66C>T	NR_147084.1		NC_000017.10:g.16836425G>A	(Likely) benign	1 lab	c62562fc1a
17:60088008 MED13 T>C	17	60088008	60088008	T	C	MED13	c.1870A>G	NM_005121.3	NP_005112.2:p.(Lys624Glu)	NC_000017.10:g.60088008T>C	(Likely) benign	1 lab	c62952c92c
3:48610359 COL7A1 G>A	3	48610359	48610359	G	A	COL7A1	c.6767C>T	NM_000094.4	NP_000085.1:p.(Pro2256Leu)	NC_000003.11:g.48610359G>A	(Likely) pathogenic	1 lab	c6327661a0
4:151504638 LRBA G>A	4	151504638	151504638	G	A	LRBA	c.6330+4562C>T	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151504638G>A	VUS	1 lab	f60e720499
X:49083534 CACNA1F G>C	X	49083534	49083534	G	C	CACNA1F	c.1174C>G	NM_005183.4	NP_005174.2:p.(Arg392Gly)	NC_000023.10:g.49083534G>C	VUS	1 lab	c633f26d0f
1:120458435 NOTCH2 T>TG	1	120458435	120458441	T	TG	NOTCH2	c.6909dup	NM_024408.4	NP_077719.2:p.(Ile2304HisfsTer9)	NC_000001.10:g.120458441dup	(Likely) pathogenic	1 lab	c6379b0545
21:19755956 TMPRSS15 C>T	21	19755956	19755956	C	T	TMPRSS15	c.484G>A	NM_002772.3	NP_002763.3:p.(Val162Ile)	NC_000021.8:g.19755956C>T	(Likely) benign	1 lab	c6457318db
14:77493856 IRF2BPL C>T	14	77493856	77493856	C	T	IRF2BPL	c.280G>A	NM_024496.4	NP_078772.1:p.(Ala94Thr)	NC_000014.8:g.77493856C>T	VUS	1 lab	c648bf2e67
6:132211534 ENPP1 A>G	6	132211534	132211534	A	G	ENPP1	c.2661A>G	NM_006208.3	NP_006199.2:p.(Ala887=)	NC_000006.11:g.132211534A>G	(Likely) benign	1 lab	c64a3275b5
4:170428217 NEK1 C>T	4	170428217	170428217	C	T	NEK1	c.1894G>A	NM_012224.4	NP_036356.1:p.(Glu632Lys)	NC_000004.11:g.170428217C>T	VUS	1 lab	c6505aa961
7:114269914 FOXP2 TTGCAGCAGCAGCAGCAAC>T	7	114269914	114269932	TTGCAGCAGCAGCAGCAAC	T	FOXP2	c.452_469del	NM_014491.4	NP_055306.1:p.(Leu151Ter)	NC_000007.13:g.114269915_114269932del	(Likely) pathogenic	1 lab	c65164ff35
18:53128354 TCF4 T>C	18	53128354	53128354	T	C	TCF4	c.208-8A>G	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53128354T>C	(Likely) benign	1 lab	c6518a60d8
19:36211223 KMT2B CAGGTCA>C	19	36211223	36211242	CAGGTCA	C	KMT2B	c.988_993del	NM_014727.3	NP_055542.1:p.(Gly330_Gln331del)	NC_000019.9:g.36211237_36211242del	VUS	1 lab	c6526462aa
3:71015021 FOXP1 G>T	3	71015021	71015021	G	T	FOXP1	c.1886+20C>A	NM_001244808.3	NP_001231737.1:p.?	NC_000003.11:g.71015021G>T	(Likely) benign	1 lab	c654d3ce38
14:23898447 MYH7 A>ATTC	14	23898447	23898451	A	ATTC	MYH7	c.1245_1247dup	NM_000257.4	NP_000248.2:p.(Gln415_Asn416insLys)	NC_000014.8:g.23898449_23898451dup	VUS	1 lab	c65929c666
11:111908162 DLAT T>C	11	111908162	111908162	T	C	DLAT	c.953T>C	NM_001931.5	NP_001922.2:p.(Val318Ala)	NC_000011.9:g.111908162T>C	(Likely) benign	1 lab	c65a49ad1b
15:74483415 STRA6 T>C	15	74483415	74483415	T	C	STRA6	c.982+93A>G	NM_001199042.2	NP_001185971.1:p.?	NC_000015.9:g.74483415T>C	(Likely) benign	1 lab	c65aea6bcf
22:51169687 SHANK3 G>A	22	51169687	51169687	G	A	SHANK3	c.5368G>A	NM_001372044.2	NP_001358973.1:p.(Val1790Met)	NC_000022.10:g.51169687G>A	VUS	1 lab	c65cc7523a
18:12329634 AFG3L2 C>G	18	12329634	12329634	C	G	AFG3L2	c.2324G>C	NM_006796.3	NP_006787.2:p.(Gly775Ala)	NC_000018.9:g.12329634C>G	VUS	1 lab	c660bcc7b8
12:49438060 KMT2D C>T	12	49438060	49438060	C	T	KMT2D	c.5111G>A	NM_003482.4	NP_003473.3:p.(Arg1704Gln)	NC_000012.11:g.49438060C>T	VUS	1 lab	c66175c63c
3:111312849 CD96 C>T	3	111312849	111312849	C	T	CD96	c.856-4118C>T	NM_198196.3	NP_937839.1:p.?	NC_000003.11:g.111312849C>T	(Likely) benign	1 lab	c6627d59da
1:160321967 NCSTN C>T	1	160321967	160321967	C	T	NCSTN	c.967C>T	NM_015331.3	NP_056146.1:p.(Arg323Cys)	NC_000001.10:g.160321967C>T	VUS	1 lab	c6636bdb28
X:49104149 CCDC22 C>T	X	49104149	49104149	C	T	CCDC22	c.1012C>T	NM_014008.5	NP_054727.1:p.(Arg338Trp)	NC_000023.10:g.49104149C>T	VUS	1 lab	c6642cb8bc
X:70523738 ITGB1BP2 G>A	X	70523738	70523738	G	A	ITGB1BP2	c.616G>A	NM_012278.4	NP_036410.1:p.(Gly206Ser)	NC_000023.10:g.70523738G>A	VUS	1 lab	c667cf1ab1
12:122268119 SETD1B G>T	12	122268119	122268119	G	T	SETD1B	c.5875G>T	NM_001353345.2	NP_001340274.1:p.(Glu1959Ter)	NC_000012.11:g.122268119G>T	VUS	1 lab	c667d988c9
16:86602339 FOXC2 C>CG	16	86602339	86602343	C	CG	FOXC2	c.1402dup	NM_005251.3	NP_005242.1:p.(Glu468GlyfsTer122)	NC_000016.9:g.86602343dup	VUS	1 lab	c66b92a68f
5:38918964 OSMR A>G	5	38918964	38918964	A	G	OSMR	c.1385A>G	NM_003999.3	NP_003990.1:p.(Asn462Ser)	NC_000005.9:g.38918964A>G	(Likely) pathogenic	1 lab	c66cb1f853
20:61982306 CHRNA4 G>A	20	61982306	61982306	G	A	CHRNA4	c.457C>T	NM_000744.7	NP_000735.1:p.(Pro153Ser)	NC_000020.10:g.61982306G>A	VUS	1 lab	c66e6fe432
16:89345617 ANKRD11 T>C	16	89345617	89345617	T	C	ANKRD11	c.7333A>G	NM_001256182.2	NP_001243111.1:p.(Arg2445Gly)	NC_000016.9:g.89345617T>C	VUS	1 lab	c670b1ec4b
14:77493574 IRF2BPL G>C	14	77493574	77493574	G	C	IRF2BPL	c.562C>G	NM_024496.4	NP_078772.1:p.(Arg188Gly)	NC_000014.8:g.77493574G>C	VUS	1 lab	c672d1c8ec
6:24302256 DCDC2 T>C	6	24302256	24302256	T	C	DCDC2	c.365A>G	NM_016356.5	NP_057440.2:p.(His122Arg)	NC_000006.11:g.24302256T>C	VUS	1 lab	c676ae2c7f
16:27356359 IL4R C>T	16	27356359	27356359	C	T	IL4R	c.316+18C>T	NM_001257407.2	NP_001244336.1:p.?	NC_000016.9:g.27356359C>T	(Likely) benign	1 lab	c676b0decb
5:138463463 SIL1 C>T	5	138463463	138463463	C	T	SIL1	c.70G>A	NM_001037633.2	NP_001032722.1:p.(Ala24Thr)	NC_000005.9:g.138463463C>T	(Likely) benign	1 lab	c676eff6d8
7:98557060 TRRAP T>G	7	98557060	98557060	T	G	TRRAP	c.6361T>G	NM_003496.4	NP_003487.1:p.(Trp2121Gly)	NC_000007.13:g.98557060T>G	VUS	1 lab	c676f6c880
15:49097732 CEP152 C>CT	15	49097732	49097749	C	CT	CEP152	c.87+27dup	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49097749dup	(Likely) benign	1 lab	c67ec0b237
14:50736053 L2HGDH T>C	14	50736053	50736053	T	C	L2HGDH	c.739-5A>G	NM_024884.3	NP_079160.1:p.?	NC_000014.8:g.50736053T>C	(Likely) benign	1 lab	c68269e6ae
4:10079555 WDR1 G>A	4	10079555	10079555	G	A	WDR1	c.1396-5C>T	NM_017491.5	NP_059830.1:p.?	NC_000004.11:g.10079555G>A	(Likely) benign	1 lab	c6883b2f87
17:56774063 RAD51C G>C	17	56774063	56774063	G	C	RAD51C	c.414G>C	NM_058216.3	NP_478123.1:p.(Leu138Phe)	NC_000017.10:g.56774063G>C	(Likely) pathogenic	1 lab	c68b90ba42
11:108201149 ATM G>A	11	108201149	108201149	G	A	ATM	c.7515+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108201149G>A	(Likely) pathogenic	1 lab	c68e11a71e
17:39743095 KRT14 G>C	17	39743095	39743095	G	C	KRT14	c.-9C>G	NM_000526.5	NP_000517.3:p.?	NC_000017.10:g.39743095G>C	(Likely) benign	1 lab	c68eb219c9
10:69934020 MYPN A>T	10	69934020	69934020	A	T	MYPN	c.1289A>T	NM_001256268.2	NP_001243197.1:p.(Lys430Met)	NC_000010.10:g.69934020A>T	VUS	1 lab	c69005aef7
10:70641860 STOX1 T>C	10	70641860	70641860	T	C	STOX1	c.457T>C	NM_152709.5	NP_689922.3:p.(Tyr153His)	NC_000010.10:g.70641860T>C	(Likely) benign	1 lab	c69488cf36
7:100238335 TFR2 C>T	7	100238335	100238335	C	T	TFR2	c.447G>A	NM_003227.4	NP_003218.2:p.(Gly149=)	NC_000007.13:g.100238335C>T	(Likely) benign	1 lab	c69c2c3ae5
9:133748298 ABL1 A>G	9	133748298	133748298	A	G	ABL1	c.1016A>G	NM_007313.2	NP_009297.2:p.(Tyr339Cys)	NC_000009.11:g.133748298A>G	VUS	1 lab	c69d2e1af1
13:101733918 NALCN G>A	13	101733918	101733918	G	A	NALCN	c.3845C>T	NM_052867.4	NP_443099.1:p.(Ser1282Leu)	NC_000013.10:g.101733918G>A	VUS	1 lab	c69da011c6
2:86302220 POLR1A C>T	2	86302220	86302220	C	T	POLR1A	c.1544G>A	NM_015425.6	NP_056240.2:p.(Arg515Gln)	NC_000002.11:g.86302220C>T	VUS	1 lab	c6a1e3e493
11:67800685 NDUFS8 C>T	11	67800685	67800685	C	T	NDUFS8	c.307C>T	NM_002496.4	NP_002487.1:p.(Arg103Trp)	NC_000011.9:g.67800685C>T	VUS	1 lab	c6a3656fbe
9:104189836 ALDOB G>A	9	104189836	104189836	G	A	ALDOB	c.468C>T	NM_000035.4	NP_000026.2:p.(Asp156=)	NC_000009.11:g.104189836G>A	(Likely) benign	1 lab	c6a47b68b9
11:34969140 PDHX T>C	11	34969140	34969140	T	C	PDHX	c.329T>C	NM_003477.3	NP_003468.2:p.(Leu110Ser)	NC_000011.9:g.34969140T>C	VUS	1 lab	c6a84114a5
2:25470548 DNMT3A C>T	2	25470548	25470548	C	T	DNMT3A	c.926G>A	NM_175629.2	NP_783328.1:p.(Arg309His)	NC_000002.11:g.25470548C>T	VUS	1 lab	c6aa8df4df
4:26417136 RBPJ T>C	4	26417136	26417136	T	C	RBPJ	c.192T>C	NM_203284.3	NP_976029.1:p.(Ser64=)	NC_000004.11:g.26417136T>C	(Likely) benign	1 lab	c6acae7787
1:115828747 NGF G>A	1	115828747	115828747	G	A	NGF	c.670C>T	NM_002506.3	NP_002497.2:p.(Arg224Trp)	NC_000001.10:g.115828747G>A	VUS	1 lab	c6af04b4e6
1:55524339 PCSK9 C>CGT	1	55524339	55524391	C	CGT	PCSK9	c.1503+70_1503+71dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524390_55524391dup	(Likely) benign	1 lab	c6af7f4926
16:81303891 BCO1 T>C	16	81303891	81303891	T	C	BCO1	c.971T>C	NM_017429.3	NP_059125.2:p.(Ile324Thr)	NC_000016.9:g.81303891T>C	(Likely) benign	1 lab	c6afd0ddd3
8:144900211 PUF60 GGCTGGGCCTGCCCTATGTT>G	8	144900211	144900236	GGCTGGGCCTGCCCTATGTT	G	PUF60	c.490_508del	NM_001136033.3	NP_001129505.1:p.(Asn164ProfsTer3)	NC_000008.10:g.144900218_144900236del	(Likely) pathogenic	1 lab	c6bada23de
19:12963174 MAST1 G>T	19	12963174	12963174	G	T	MAST1	c.1042G>T	NM_014975.3	NP_055790.1:p.(Gly348Cys)	NC_000019.9:g.12963174G>T	VUS	1 lab	c6bb0b0300
14:58730439 PSMA3 C>T	14	58730439	58730439	C	T	PSMA3	c.494C>T	NM_002788.4	NP_002779.1:p.(Ala165Val)	NC_000014.8:g.58730439C>T	VUS	1 lab	c6bbc1f1a6
16:4949067 PPL T>C	16	4949067	4949067	T	C	PPL	c.823A>G	NM_002705.5	NP_002696.4:p.(Ser275Gly)	NC_000016.9:g.4949067T>C	VUS	1 lab	c6bbddff5a
12:53343273 KRT18 C>T	12	53343273	53343273	C	T	KRT18	c.316C>T	NM_000224.3	NP_000215.1:p.(Arg106Trp)	NC_000012.11:g.53343273C>T	(Likely) benign	1 lab	c6bc28c14b
3:47021423 NBEAL2 G>GCCCGCA	3	47021423	47021440	G	GCCCGCA	NBEAL2	c.51+33_51+38dup	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47021435_47021440dup	(Likely) benign	1 lab	c6ca2fb94c
12:57493095 STAT6 A>G	12	57493095	57493095	A	G	STAT6	c.1873T>C	NM_003153.5	NP_003144.3:p.(Phe625Leu)	NC_000012.11:g.57493095A>G	VUS	1 lab	c6cdefc01d
10:75599315 CAMK2G C>T	10	75599315	75599315	C	T	CAMK2G	c.947-2046G>A	NM_172171.3	NP_751911.1:p.?	NC_000010.10:g.75599315C>T	VUS	1 lab	c6cee9e7ec
2:152432886 NEB G>A	2	152432886	152432886	G	A	NEB	c.16705-18C>T	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152432886G>A	(Likely) benign	1 lab	c6d0177f6e
5:90074265 ADGRV1 G>A	5	90074265	90074265	G	A	ADGRV1	c.12688G>A	NM_032119.4	NP_115495.3:p.(Glu4230Lys)	NC_000005.9:g.90074265G>A	VUS	1 lab	c6d10222c8
3:53785809 CACNA1D C>A	3	53785809	53785809	C	A	CACNA1D	c.3610C>A	NM_000720.4	NP_000711.1:p.(Pro1204Thr)	NC_000003.11:g.53785809C>A	VUS	1 lab	c6d4590427
6:24495234 ALDH5A1 T>G	6	24495234	24495234	T	G	ALDH5A1	c.10T>G	NM_170740.1	NP_733936.1:p.(Cys4Gly)	NC_000006.11:g.24495234T>G	(Likely) benign	1 lab	c6da9a54b2
10:105810400 COL17A1 T>C	10	105810400	105810400	T	C	COL17A1	c.2107A>G	NM_000494.4	NP_000485.3:p.(Met703Val)	NC_000010.10:g.105810400T>C	(Likely) benign	1 lab	c6db025de5
X:2867679 ARSL G>C	X	2867679	2867679	G	C	ARSL	c.595C>G	NM_001282628.2	NP_001269557.1:p.(Pro199Ala)	NC_000023.10:g.2867679G>C	VUS	1 lab	c6deafbbb2
17:48271433 COL1A1 A>G	17	48271433	48271433	A	G	COL1A1	c.1669-31T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271433A>G	(Likely) benign	1 lab	c6dfc799dd
14:102483636 DYNC1H1 G>T	14	102483636	102483636	G	T	DYNC1H1	c.8055+5G>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102483636G>T	VUS	1 lab	c6e087e7de
16:18558589 NOMO2 A>C	16	18558589	18558589	A	C	NOMO2	c.543T>G	NM_173614.3	NP_775885.1:p.(Tyr181Ter)	NC_000016.9:g.18558589A>C	VUS	1 lab	c6e4ca4cb7
16:30998260 HSD3B7 C>T	16	30998260	30998260	C	T	HSD3B7	c.631C>T	NM_025193.4	NP_079469.2:p.(Arg211Cys)	NC_000016.9:g.30998260C>T	VUS	1 lab	c6e64d8da6
17:72889676 FADS6 G>C	17	72889676	72889676	G	C	FADS6	c.72C>G	NM_178128.6	NP_835229.3:p.(Pro24=)	NC_000017.10:g.72889676G>C	(Likely) benign	1 lab	c6e921bad9
22:40058804 CACNA1I G>C	22	40058804	40058804	G	C	CACNA1I	c.3396G>C	NM_021096.4	NP_066919.2:p.(Lys1132Asn)	NC_000022.10:g.40058804G>C	VUS	1 lab	c6eb4687d8
17:73096471 SLC16A5 AC>A	17	73096471	73096472	AC	A	SLC16A5	c.714del	NM_001271765.2	NP_001258694.1:p.(Cys239AlafsTer7)	NC_000017.10:g.73096472del	VUS	1 lab	c6eb7316d5
11:126162704 TIRAP T>C	11	126162704	126162704	T	C	TIRAP	c.400T>C	NM_148910.3	NP_683708.1:p.(Cys134Arg)	NC_000011.9:g.126162704T>C	VUS	1 lab	c6ee2b5445
6:170871039 TBP A>AGC	6	170871039	170871040	A	AGC	TBP	c.215_216insGC	NM_003194.5	NP_003185.1:p.(Gln73HisfsTer72)	NC_000006.11:g.170871039_170871040insGC	VUS	1 lab	c6f45b916a
1:11852387 MTHFR T>G	1	11852387	11852387	T	G	MTHFR	c.1580A>C	NM_005957.5	NP_005948.3:p.(Gln527Pro)	NC_000001.10:g.11852387T>G	VUS	1 lab	c6fd2fd399
15:43531430 TGM5 G>A	15	43531430	43531430	G	A	TGM5	c.1036C>T	NM_201631.4	NP_963925.2:p.(Arg346Trp)	NC_000015.9:g.43531430G>A	(Likely) pathogenic	1 lab	c6ff36a835
14:23858159 MYH6 C>T	14	23858159	23858159	C	T	MYH6	c.4084G>A	NM_002471.4	NP_002462.2:p.(Val1362Ile)	NC_000014.8:g.23858159C>T	VUS	1 lab	c704cd4564
3:154884807 MME A>G	3	154884807	154884807	A	G	MME	c.1777A>G	NM_007289.4	NP_009220.2:p.(Asn593Asp)	NC_000003.11:g.154884807A>G	VUS	1 lab	c708ccb970
4:146563509 MMAA C>T	4	146563509	146563509	C	T	MMAA	c.440-6C>T	NM_172250.3	NP_758454.1:p.?	NC_000004.11:g.146563509C>T	VUS	1 lab	c709923894
3:151158361 IGSF10 G>T	3	151158361	151158361	G	T	IGSF10	c.5964-1976C>A	NM_178822.5	NP_849144.2:p.?	NC_000003.11:g.151158361G>T	VUS	1 lab	c70f4091aa
19:35530586 SCN1B G>A	19	35530586	35530586	G	A	SCN1B	c.539G>A	NM_001321605.2	NP_001308534.1:p.(Gly180Asp)	NC_000019.9:g.35530586G>A	VUS	1 lab	c7119f489e
15:85343171 ZNF592 C>T	15	85343171	85343171	C	T	ZNF592	c.3236C>T	NM_014630.3	NP_055445.2:p.(Thr1079Met)	NC_000015.9:g.85343171C>T	(Likely) benign	1 lab	c71371cfe5
2:179594905 TTN G>A	2	179594905	179594905	G	A	TTN	c.18222C>T	NM_001267550.2	NP_001254479.2:p.(Ala6074=)	NC_000002.11:g.179594905G>A	(Likely) benign	1 lab	c714af65ff
X:76938056 ATRX C>G	X	76938056	76938056	C	G	ATRX	c.2692G>C	NM_000489.6	NP_000480.3:p.(Asp898His)	NC_000023.10:g.76938056C>G	VUS	1 lab	c71adfa87f
21:28338563 ADAMTS5 C>T	21	28338563	28338563	C	T	ADAMTS5	c.148G>A	NM_007038.5	NP_008969.2:p.(Glu50Lys)	NC_000021.8:g.28338563C>T	VUS	1 lab	c71e3573d2
16:29825657 PRRT2 CG>C	16	29825657	29825659	CG	C	PRRT2	c.885del	NM_001256442.2	NP_001243371.1:p.(Asn296ThrfsTer17)	NC_000016.9:g.29825659del	(Likely) pathogenic	1 lab	c71e7c4fed
2:183822293 NCKAP1 C>A	2	183822293	183822293	C	A	NCKAP1	c.1931G>T	NM_205842.3	NP_995314.1:p.(Ser644Ile)	NC_000002.11:g.183822293C>A	VUS	1 lab	c720a3b9e4
11:94225807 MRE11 C>T	11	94225807	94225807	C	T	MRE11	c.20+141G>A	NM_005590.4	NP_005581.2:p.?	NC_000011.9:g.94225807C>T	(Likely) benign	1 lab	c7216e1494
15:65496825 CILP C>T	15	65496825	65496825	C	T	CILP	c.700G>A	NM_003613.4	NP_003604.4:p.(Gly234Arg)	NC_000015.9:g.65496825C>T	VUS	1 lab	c721a0e4e3
3:183368891 KLHL24 C>T	3	183368891	183368891	C	T	KLHL24	c.747C>T	NM_017644.3	NP_060114.2:p.(His249=)	NC_000003.11:g.183368891C>T	(Likely) benign	1 lab	c72864e293
1:153785877 GATAD2B C>T	1	153785877	153785877	C	T	GATAD2B	c.1268G>A	NM_020699.4	NP_065750.1:p.(Cys423Tyr)	NC_000001.10:g.153785877C>T	(Likely) pathogenic	1 lab	c7288e76e4
3:58512366 ACOX2 C>A	3	58512366	58512366	C	A	ACOX2	c.1173G>T	NM_003500.4	NP_003491.1:p.(Thr391=)	NC_000003.11:g.58512366C>A	(Likely) benign	1 lab	c728ac4843
12:21699291 GYS2 C>T	12	21699291	21699291	C	T	GYS2	c.1536G>A	NM_021957.4	NP_068776.2:p.(Trp512Ter)	NC_000012.11:g.21699291C>T	(Likely) pathogenic	1 lab	c72a05fcae
1:35226922 GJB4 A>T	1	35226922	35226922	A	T	GJB4	c.67A>T	NM_153212.3	NP_694944.1:p.(Ile23Phe)	NC_000001.10:g.35226922A>T	(Likely) benign	1 lab	c72b0c87d3
17:41256287 BRCA1 T>C	17	41256287	41256287	T	C	BRCA1	c.302-9A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256287T>C	(Likely) benign	1 lab	c72fbf2a90
7:98563502 TRRAP C>G	7	98563502	98563502	C	G	TRRAP	c.7085C>G	NM_003496.4	NP_003487.1:p.(Pro2362Arg)	NC_000007.13:g.98563502C>G	VUS	1 lab	c737b790e9
4:167012506 TLL1 A>G	4	167012506	167012506	A	G	TLL1	c.2656+13A>G	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.167012506A>G	(Likely) benign	1 lab	c73d8197e4
1:22217108 HSPG2 G>A	1	22217108	22217108	G	A	HSPG2	c.324C>T	NM_005529.7	NP_005520.4:p.(Phe108=)	NC_000001.10:g.22217108G>A	(Likely) benign	1 lab	c73e1b789a
4:77691937 SHROOM3 G>A	4	77691937	77691937	G	A	SHROOM3	c.5508G>A	NM_020859.4	NP_065910.3:p.(Met1836Ile)	NC_000004.11:g.77691937G>A	VUS	1 lab	c73eeffd76
15:28090143 OCA2 T>G	15	28090143	28090143	T	G	OCA2	c.2394A>C	NM_000275.3	NP_000266.2:p.(Glu798Asp)	NC_000015.9:g.28090143T>G	VUS	1 lab	c7edd1ee9d
18:21474921 LAMA3 G>A	18	21474921	21474921	G	A	LAMA3	c.5512G>A	NM_198129.4	NP_937762.2:p.(Glu1838Lys)	NC_000018.9:g.21474921G>A	VUS	1 lab	c7427e8182
X:37663157 CYBB G>A	X	37663157	37663157	G	A	CYBB	c.925G>A	NM_000397.4	NP_000388.2:p.(Glu309Lys)	NC_000023.10:g.37663157G>A	(Likely) pathogenic	1 lab	c742e43d93
3:186954285 MASP1 A>G	3	186954285	186954285	A	G	MASP1	c.1374T>C	NM_139125.4	NP_624302.1:p.(Pro458=)	NC_000003.11:g.186954285A>G	(Likely) benign	1 lab	c745660627
13:48934151 RB1 A>C	13	48934151	48934151	A	C	RB1	c.608-2A>C	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48934151A>C	(Likely) pathogenic	1 lab	c745d5e2e7
14:103412999 CDC42BPB G>A	14	103412999	103412999	G	A	CDC42BPB	c.3554C>T	NM_006035.4	NP_006026.3:p.(Ala1185Val)	NC_000014.8:g.103412999G>A	VUS	1 lab	c74a410574
3:136196256 STAG1 TAG>T	3	136196256	136196265	TAG	T	STAG1	c.903-4_903-3del	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136196264_136196265del	VUS	1 lab	c74abc7a6a
4:103557077 MANBA G>A	4	103557077	103557077	G	A	MANBA	c.2102C>T	NM_005908.4	NP_005899.3:p.(Thr701Met)	NC_000004.11:g.103557077G>A	(Likely) benign	1 lab	c74e10fbf1
X:119760631 C1GALT1C1 C>T	X	119760631	119760631	C	T	C1GALT1C1	c.391G>A	NM_152692.5	NP_689905.1:p.(Asp131Asn)	NC_000023.10:g.119760631C>T	VUS	1 lab	c750ce04ba
5:179193668 MAML1 G>A	5	179193668	179193668	G	A	MAML1	c.1657G>A	NM_014757.5	NP_055572.1:p.(Glu553Lys)	NC_000005.9:g.179193668G>A	VUS	1 lab	c75407c9e6
2:179640732 TTN T>G	2	179640732	179640732	T	G	TTN	c.5859A>C	NM_001267550.2	NP_001254479.2:p.(Glu1953Asp)	NC_000002.11:g.179640732T>G	VUS	1 lab	c756daf1e3
17:39742668 KRT14 T>C	17	39742668	39742668	T	C	KRT14	c.419A>G	NM_000526.5	NP_000517.3:p.(Asn140Ser)	NC_000017.10:g.39742668T>C	(Likely) pathogenic	1 lab	c7582171e1
8:16012594 MSR1 G>A	8	16012594	16012594	G	A	MSR1	c.877C>T	NM_138715.3	NP_619729.1:p.(Arg293Ter)	NC_000008.10:g.16012594G>A	VUS	1 lab	c758907d06
1:92161307 TGFBR3 C>T	1	92161307	92161307	C	T	TGFBR3	c.2359G>A	NM_003243.5	NP_003234.2:p.(Val787Met)	NC_000001.10:g.92161307C>T	VUS	1 lab	c75d68c176
16:85682250 GSE1 C>G	16	85682250	85682250	C	G	GSE1	c.7C>G	NM_001134473.3	NP_001127945.1:p.(Pro3Ala)	NC_000016.9:g.85682250C>G	VUS	1 lab	c75ffa24b8
19:10657598 ATG4D C>T	19	10657598	10657598	C	T	ATG4D	c.577C>T	NM_032885.6	NP_116274.3:p.(Arg193Cys)	NC_000019.9:g.10657598C>T	VUS	1 lab	c7622e5538
19:11227652 LDLR C>G	19	11227652	11227652	C	G	LDLR	c.1823C>G	NM_000527.5	NP_000518.1:p.(Pro608Arg)	NC_000019.9:g.11227652C>G	(Likely) pathogenic	1 lab	c764e4429d
1:27697149 FCN3 C>T	1	27697149	27697149	C	T	FCN3	c.596G>A	NM_003665.4	NP_003656.2:p.(Arg199His)	NC_000001.10:g.27697149C>T	VUS	1 lab	c7662ca68f
19:18707472 CRLF1 A>AC	19	18707472	18707473	A	AC	CRLF1	c.983dup	NM_004750.5	NP_004741.1:p.(Ser328ArgfsTer2)	NC_000019.9:g.18707473dup	(Likely) pathogenic	1 lab	c772cdcca5
11:125488417 STT3A A>C	11	125488417	125488417	A	C	STT3A	c.1924A>C	NM_001278503.2	NP_001265432.1:p.(Met642Leu)	NC_000011.9:g.125488417A>C	VUS	1 lab	c77d8bb1dc
1:210857234 KCNH1 C>T	1	210857234	210857234	C	T	KCNH1	c.2359G>A	NM_172362.3	NP_758872.1:p.(Val787Met)	NC_000001.10:g.210857234C>T	(Likely) benign	1 lab	c7f2a889b8
5:110784905 CAMK4 T>G	5	110784905	110784905	T	G	CAMK4	c.625+4T>G	NM_001744.6	NP_001735.1:p.?	NC_000005.9:g.110784905T>G	(Likely) benign	1 lab	c78f5a9c51
2:179402121 TTN C>G	2	179402121	179402121	C	G	TTN	c.99813G>C	NM_001267550.2	NP_001254479.2:p.(Gln33271His)	NC_000002.11:g.179402121C>G	VUS	1 lab	c7906a8b1a
2:88890516 EIF2AK3 C>T	2	88890516	88890516	C	T	EIF2AK3	c.822G>A	NM_004836.7	NP_004827.4:p.(Thr274=)	NC_000002.11:g.88890516C>T	(Likely) benign	1 lab	c796d5955d
X:22245666 PHEX G>A	X	22245666	22245666	G	A	PHEX	c.2008G>A	NM_000444.6	NP_000435.3:p.(Glu670Lys)	NC_000023.10:g.22245666G>A	(Likely) pathogenic	1 lab	c7973ee3bf
6:15496432 JARID2 C>T	6	15496432	15496432	C	T	JARID2	c.976C>T	NM_004973.4	NP_004964.2:p.(Arg326Cys)	NC_000006.11:g.15496432C>T	VUS	1 lab	c79933db5e
10:16957907 CUBN G>A	10	16957907	16957907	G	A	CUBN	c.7123C>T	NM_001081.4	NP_001072.2:p.(Leu2375Phe)	NC_000010.10:g.16957907G>A	VUS	1 lab	c79a2cd6d3
13:60407378 DIAPH3 A>G	13	60407378	60407378	A	G	DIAPH3	c.2890T>C	NM_001042517.2	NP_001035982.1:p.(Tyr964His)	NC_000013.10:g.60407378A>G	(Likely) benign	1 lab	c79f27efa1
1:201293659 PKP1 C>G	1	201293659	201293659	C	G	PKP1	c.1847C>G	NM_000299.4	NP_000290.2:p.(Ala616Gly)	NC_000001.10:g.201293659C>G	VUS	1 lab	c7a254e646
4:85696067 WDFY3 G>A	4	85696067	85696067	G	A	WDFY3	c.4660C>T	NM_014991.6	NP_055806.2:p.(Arg1554Ter)	NC_000004.11:g.85696067G>A	(Likely) pathogenic	1 lab	c7a6854da3
6:29912087 HLA-A G>T	6	29912087	29912087	G	T	HLA-A	c.808G>T	NM_002116.8	NP_002107.3:p.(Ala270Ser)	NC_000006.11:g.29912087G>T	(Likely) benign	1 lab	c7a8190674
2:231072709 SP110 C>T	2	231072709	231072709	C	T	SP110	c.895G>A	NM_080424.4	NP_536349.3:p.(Gly299Arg)	NC_000002.11:g.231072709C>T	(Likely) benign	1 lab	c7a890a3f2
2:145157092 ZEB2 T>C	2	145157092	145157092	T	C	ZEB2	c.1662A>G	NM_014795.4	NP_055610.1:p.(Ile554Met)	NC_000002.11:g.145157092T>C	(Likely) benign	1 lab	c7a9d6bfd2
13:114322289 GRK1 A>G	13	114322289	114322289	A	G	GRK1	c.588A>G	NM_002929.3	NP_002920.1:p.(Leu196=)	NC_000013.10:g.114322289A>G	(Likely) benign	1 lab	c7ab590d00
2:109527373 EDAR A>G	2	109527373	109527373	A	G	EDAR	c.655+30T>C	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109527373A>G	(Likely) benign	1 lab	c7bef3ec16
9:135786931 TSC1 G>A	9	135786931	135786931	G	A	TSC1	c.938C>T	NM_000368.5	NP_000359.1:p.(Ser313Phe)	NC_000009.11:g.135786931G>A	VUS	1 lab	c7c3d22498
3:47098861 SETD2 T>C	3	47098861	47098861	T	C	SETD2	c.6413A>G	NM_014159.7	NP_054878.5:p.(Gln2138Arg)	NC_000003.11:g.47098861T>C	VUS	1 lab	c7c3f3419b
7:83037731 SEMA3E C>T	7	83037731	83037731	C	T	SEMA3E	c.623G>A	NM_012431.3	NP_036563.1:p.(Arg208Gln)	NC_000007.13:g.83037731C>T	VUS	1 lab	c7c7c80ab1
16:57689380 ADGRG1 C>T	16	57689380	57689380	C	T	ADGRG1	c.838C>T	NM_005682.7	NP_005673.3:p.(Arg280Trp)	NC_000016.9:g.57689380C>T	VUS	1 lab	c7d149805d
17:41052969 G6PC1 TC>T	17	41052969	41052972	TC	T	G6PC1	c.79del	NM_000151.4	NP_000142.2:p.(Gln27ArgfsTer9)	NC_000017.10:g.41052972del	(Likely) pathogenic	1 lab	c7d3b02f8d
16:3817766 CREBBP C>A	16	3817766	3817766	C	A	CREBBP	c.3205G>T	NM_004380.3	NP_004371.2:p.(Gly1069Cys)	NC_000016.9:g.3817766C>A	(Likely) benign	1 lab	c7d5ff62c2
11:47801900 NUP160 T>C	11	47801900	47801900	T	C	NUP160	c.4216A>G	NM_015231.2	NP_056046.1:p.(Ile1406Val)	NC_000011.9:g.47801900T>C	VUS	1 lab	c7d651a8e8
12:49418398 KMT2D C>A	12	49418398	49418398	C	A	KMT2D	c.16015G>T	NM_003482.4	NP_003473.3:p.(Ala5339Ser)	NC_000012.11:g.49418398C>A	VUS	1 lab	c7da7d739e
16:85667654 GSE1 A>C	16	85667654	85667654	A	C	GSE1	c.142A>C	NM_014615.5	NP_055430.1:p.(Ser48Arg)	NC_000016.9:g.85667654A>C	VUS	1 lab	c7ddce5fca
9:35657798 RMRP G>GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC	9	35657798	35657799	G	GTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC	RMRP	n.217_218insGCAGTGCGTGTCCGCGCACCAACCACACGGGGCTCATTCTCAGCGCGGCTGTTTTTTGTTCCCGAGACCA	NR_003051.3		NC_000009.11:g.35657798_35657799insTGGTCTCGGGAACAAAAAACAGCCGCGCTGAGAATGAGCCCCGTGTGGTTGGTGCGCGGACACGCACTGC	(Likely) benign	1 lab	c7df79616b
2:179449116 TTN C>G	2	179449116	179449116	C	G	TTN	c.65162G>C	NM_001267550.2	NP_001254479.2:p.(Cys21721Ser)	NC_000002.11:g.179449116C>G	VUS	1 lab	c7f56fa33f
1:155449437 ASH1L T>C	1	155449437	155449437	T	C	ASH1L	c.3224A>G	NM_018489.3	NP_060959.2:p.(Gln1075Arg)	NC_000001.10:g.155449437T>C	VUS	1 lab	c7f7140980
7:65439535 GUSB G>A	7	65439535	65439535	G	A	GUSB	c.1222C>T	NM_000181.4	NP_000172.2:p.(Pro408Ser)	NC_000007.13:g.65439535G>A	(Likely) pathogenic	1 lab	c7f715193d
5:74018610 GFM2 G>A	5	74018610	74018610	G	A	GFM2	c.2125-224C>T	NM_001281302.2	NP_001268231.1:p.?	NC_000005.9:g.74018610G>A	(Likely) pathogenic	1 lab	c7fc331db9
9:133342110 ASS1 A>G	9	133342110	133342110	A	G	ASS1	c.421-2A>G	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133342110A>G	(Likely) pathogenic	1 lab	c7ff7a901f
11:65481068 KAT5 G>A	11	65481068	65481068	G	A	KAT5	c.446G>A	NM_006388.4	NP_006379.2:p.(Arg149Gln)	NC_000011.9:g.65481068G>A	VUS	1 lab	c800756ba5
7:103276859 RELN A>G	7	103276859	103276859	A	G	RELN	c.2126T>C	NM_005045.4	NP_005036.2:p.(Met709Thr)	NC_000007.13:g.103276859A>G	VUS	1 lab	c803fca3ca
9:139393702 NOTCH1 G>A	9	139393702	139393702	G	A	NOTCH1	c.5944C>T	NM_017617.5	NP_060087.3:p.(Arg1982Trp)	NC_000009.11:g.139393702G>A	VUS	1 lab	c80557de64
16:50745768 NOD2 T>A	16	50745768	50745768	T	A	NOD2	c.1946T>A	NM_022162.3	NP_071445.1:p.(Ile649Asn)	NC_000016.9:g.50745768T>A	VUS	1 lab	c808b22a65
11:68549340 CPT1A A>G	11	68549340	68549340	A	G	CPT1A	c.1251T>C	NM_001876.4	NP_001867.2:p.(Phe417=)	NC_000011.9:g.68549340A>G	(Likely) benign	1 lab	c8090eba27
15:65597121 RNU5B-1 C>T	15	65597121	65597121	C	T	RNU5B-1	n.107C>T	NR_002757.3		NC_000015.9:g.65597121C>T	(Likely) benign	1 lab	c809b716df
10:73491777 CDH23 C>T	10	73491777	73491777	C	T	CDH23	c.3749C>T	NM_022124.6	NP_071407.4:p.(Ser1250Leu)	NC_000010.10:g.73491777C>T	VUS	1 lab	c80ac3fe27
22:50596539 MOV10L1 C>T	22	50596539	50596539	C	T	MOV10L1	c.3120C>T	NM_018995.3	NP_061868.1:p.(Ala1040=)	NC_000022.10:g.50596539C>T	(Likely) benign	1 lab	c80b078a4d
6:42942631 PEX6 CG>C	6	42942631	42942633	CG	C	PEX6	c.1027del	NM_000287.4	NP_000278.3:p.(Arg343GlyfsTer8)	NC_000006.11:g.42942633del	(Likely) pathogenic	1 lab	c80f4a50cd
2:160206650 BAZ2B T>C	2	160206650	160206650	T	C	BAZ2B	c.4324A>G	NM_001289975.1	NP_001276904.1:p.(Met1442Val)	NC_000002.11:g.160206650T>C	VUS	1 lab	c80f5f3acd
2:179415882 TTN A>G	2	179415882	179415882	A	G	TTN	c.86453T>C	NM_001256850.1	NP_001243779.1:p.(Ile28818Thr)	NC_000002.11:g.179415882A>G	VUS	1 lab	c813f6f085
1:208391063 PLXNA2 G>A	1	208391063	208391063	G	A	PLXNA2	c.205C>T	NM_025179.4	NP_079455.3:p.(Arg69Trp)	NC_000001.10:g.208391063G>A	VUS	1 lab	c816f4a794
4:57333822 SRP72 G>T	4	57333822	57333822	G	T	SRP72	c.21G>T	NM_006947.4	NP_008878.3:p.(Gly7=)	NC_000004.11:g.57333822G>T	(Likely) benign	1 lab	c81c926a2e
20:49509338 ADNP G>C	20	49509338	49509338	G	C	ADNP	c.1913C>G	NM_015339.5	NP_056154.1:p.(Ala638Gly)	NC_000020.10:g.49509338G>C	VUS	1 lab	c81c94b1f1
19:13356083 CACNA1A G>A	19	13356083	13356083	G	A	CACNA1A	c.4867-4C>T	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13356083G>A	(Likely) benign	1 lab	c81e10f231
5:233687 SDHA G>A	5	233687	233687	G	A	SDHA	c.991G>A	NM_004168.4	NP_004159.2:p.(Ala331Thr)	NC_000005.9:g.233687G>A	VUS	1 lab	c81eb0ab9c
12:49425644 KMT2D G>A	12	49425644	49425644	G	A	KMT2D	c.12844C>T	NM_003482.4	NP_003473.3:p.(Arg4282Ter)	NC_000012.11:g.49425644G>A	(Likely) pathogenic	1 lab	c8227e6484
20:31025052 ASXL1 A>T	20	31025052	31025052	A	T	ASXL1	c.4537A>T	NM_015338.6	NP_056153.2:p.(Met1513Leu)	NC_000020.10:g.31025052A>T	VUS	1 lab	c82448dce3
22:29446561 ZNRF3 T>A	22	29446561	29446561	T	A	ZNRF3	c.2392T>A	NM_001206998.2	NP_001193927.1:p.(Tyr798Asn)	NC_000022.10:g.29446561T>A	VUS	1 lab	c824ac7ba8
7:103251212 RELN C>G	7	103251212	103251212	C	G	RELN	c.2938G>C	NM_005045.4	NP_005036.2:p.(Ala980Pro)	NC_000007.13:g.103251212C>G	VUS	1 lab	c82de6b802
10:92677580 ANKRD1 C>T	10	92677580	92677580	C	T	ANKRD1	c.461G>A	NM_014391.3	NP_055206.2:p.(Arg154Gln)	NC_000010.10:g.92677580C>T	VUS	1 lab	c8332108ca
5:131289948 ACSL6 C>A	5	131289948	131289948	C	A	ACSL6	c.2148G>T	NM_015256.4	NP_056071.2:p.(Glu716Asp)	NC_000005.9:g.131289948C>A	VUS	1 lab	c838617175
X:154158427 F8 A>AT	X	154158427	154158436	A	AT	F8	c.3637dup	NM_000132.4	NP_000123.1:p.(Ile1213AsnfsTer28)	NC_000023.10:g.154158436dup	(Likely) pathogenic	1 lab	c838b8a32b
4:2822423 SH3BP2 G>A	4	2822423	2822423	G	A	SH3BP2	c.79G>A	NM_003023.4	NP_003014.3:p.(Val27Met)	NC_000004.11:g.2822423G>A	(Likely) benign	1 lab	c839c27d4e
22:19902805 TXNRD2 G>A	22	19902805	19902805	G	A	TXNRD2	c.529-6C>T	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19902805G>A	(Likely) benign	1 lab	c839d3612c
13:49030485 RB1 G>T	13	49030485	49030485	G	T	RB1	c.1960G>T	NM_000321.3	NP_000312.2:p.(Val654Leu)	NC_000013.10:g.49030485G>T	(Likely) pathogenic	1 lab	c8474b354a
2:179497955 TTN C>T	2	179497955	179497955	C	T	TTN	c.43045G>A	NM_001267550.2	NP_001254479.2:p.(Gly14349Ser)	NC_000002.11:g.179497955C>T	VUS	1 lab	c84a506b31
15:85400260 ALPK3 G>A	15	85400260	85400260	G	A	ALPK3	c.2291G>A	NM_020778.5	NP_065829.4:p.(Cys764Tyr)	NC_000015.9:g.85400260G>A	VUS	1 lab	c84a8cc522
14:23899810 MYH7 C>T	14	23899810	23899810	C	T	MYH7	c.958G>A	NM_000257.4	NP_000248.2:p.(Val320Met)	NC_000014.8:g.23899810C>T	(Likely) pathogenic	1 lab	c84d64b82d
7:94259115 SGCE C>T	7	94259115	94259115	C	T	SGCE	c.148G>A	NM_001099401.2	NP_001092871.1:p.(Val50Ile)	NC_000007.13:g.94259115C>T	VUS	1 lab	c84eae8d3a
3:4735258 ITPR1 C>T	3	4735258	4735258	C	T	ITPR1	c.4042C>T	NM_002222.7	NP_002213.5:p.(Arg1348Trp)	NC_000003.11:g.4735258C>T	VUS	1 lab	c85465d68a
8:107738473 OXR1 T>C	8	107738473	107738473	T	C	OXR1	c.2T>C	NM_001198534.1	NP_001185463.1:p.(Met1?)	NC_000008.10:g.107738473T>C	(Likely) pathogenic	1 lab	c8631c2381
5:1214072 SLC6A19 C>T	5	1214072	1214072	C	T	SLC6A19	c.779C>T	NM_001003841.3	NP_001003841.1:p.(Thr260Met)	NC_000005.9:g.1214072C>T	VUS	1 lab	c865b0bed4
20:31368253 DNMT3B C>T	20	31368253	31368253	C	T	DNMT3B	c.124C>T	NM_006892.4	NP_008823.1:p.(Arg42Cys)	NC_000020.10:g.31368253C>T	(Likely) benign	1 lab	c86650d302
2:73118536 SPR G>A	2	73118536	73118536	G	A	SPR	c.656G>A	NM_003124.5	NP_003115.1:p.(Arg219Gln)	NC_000002.11:g.73118536G>A	VUS	1 lab	c86a3f8335
X:69253347 EDA A>AC	X	69253347	69253348	A	AC	EDA	c.894dup	NM_001399.5	NP_001390.1:p.(Gly299ArgfsTer7)	NC_000023.10:g.69253348dup	(Likely) pathogenic	1 lab	c86a6f4055
2:179648514 TTN T>C	2	179648514	179648514	T	C	TTN	c.2776-2A>G	NM_001256850.1	NP_001243779.1:p.?	NC_000002.11:g.179648514T>C	(Likely) pathogenic	1 lab	c86d8e4540
6:31083797 CDSN ACTT>A	6	31083797	31083803	ACTT	A	CDSN	c.*2_*4del	NM_001264.5	NP_001255.4:p.?	NC_000006.11:g.31083801_31083803del	(Likely) benign	1 lab	c8704c4295
15:63353073 TPM1 C>T	15	63353073	63353073	C	T	TPM1	c.498C>T	NM_001018004.2	NP_001018004.1:p.(Ala166=)	NC_000015.9:g.63353073C>T	(Likely) benign	1 lab	c871fa7f23
11:62301092 AHNAK T>G	11	62301092	62301092	T	G	AHNAK	c.797A>C	NM_001620.3	NP_001611.1:p.(Asp266Ala)	NC_000011.9:g.62301092T>G	VUS	1 lab	c873373bb6
17:42429548 GRN AGCTGCCCGGTGGGGCAGACCT>A	17	42429548	42429577	AGCTGCCCGGTGGGGCAGACCT	A	GRN	c.1354_1374del	NM_002087.4	NP_002078.1:p.(Val452_Pro458del)	NC_000017.10:g.42429557_42429577del	VUS	1 lab	c87457f0b6
5:226154 SDHA T>C	5	226154	226154	T	C	SDHA	c.613T>C	NM_004168.4	NP_004159.2:p.(Tyr205His)	NC_000005.9:g.226154T>C	VUS	1 lab	c874a7c194
15:44876086 SPG11 A>T	15	44876086	44876086	A	T	SPG11	c.5792T>A	NM_025137.4	NP_079413.3:p.(Ile1931Asn)	NC_000015.9:g.44876086A>T	VUS	1 lab	c8763e5e29
19:6697752 C3 C>T	19	6697752	6697752	C	T	C3	c.2494G>A	NM_000064.4	NP_000055.2:p.(Asp832Asn)	NC_000019.9:g.6697752C>T	VUS	1 lab	c879c124b1
2:179452386 TTN A>C	2	179452386	179452386	A	C	TTN	c.63650T>G	NM_001267550.2	NP_001254479.2:p.(Val21217Gly)	NC_000002.11:g.179452386A>C	VUS	1 lab	c884375423
3:114069472 ZBTB20 T>C	3	114069472	114069472	T	C	ZBTB20	c.1453A>G	NM_001348803.3	NP_001335732.1:p.(Ser485Gly)	NC_000003.11:g.114069472T>C	VUS	1 lab	c8869d1d24
2:48033386 MSH6 AGTT>A	2	48033386	48033392	AGTT	A	MSH6	c.3694_3696del	NM_000179.3	NP_000170.1:p.(Val1232del)	NC_000002.11:g.48033390_48033392del	(Likely) pathogenic	1 lab	c88713cf2b
3:129177521 IFT122 G>A	3	129177521	129177521	G	A	IFT122	c.272+1G>A	NM_052985.4	NP_443711.2:p.?	NC_000003.11:g.129177521G>A	(Likely) pathogenic	1 lab	c887e34365
10:17024615 CUBN A>T	10	17024615	17024615	A	T	CUBN	c.4563T>A	NM_001081.4	NP_001072.2:p.(Ile1521=)	NC_000010.10:g.17024615A>T	(Likely) benign	1 lab	c88b12178e
16:89611101 SPG7 G>A	16	89611101	89611101	G	A	SPG7	c.1370G>A	NM_003119.4	NP_003110.1:p.(Arg457Gln)	NC_000016.9:g.89611101G>A	VUS	1 lab	c88e996111
20:62120490 EEF1A2 G>A	20	62120490	62120490	G	A	EEF1A2	c.1045C>T	NM_001958.5	NP_001949.1:p.(His349Tyr)	NC_000020.10:g.62120490G>A	VUS	1 lab	c893b74100
8:77765509 ZFHX4 G>A	8	77765509	77765509	G	A	ZFHX4	c.6352G>A	NM_024721.5	NP_078997.4:p.(Gly2118Arg)	NC_000008.10:g.77765509G>A	VUS	1 lab	c8950b8e44
11:71146710 DHCR7 C>T	11	71146710	71146710	C	T	DHCR7	c.1139G>A	NM_001360.3	NP_001351.2:p.(Cys380Tyr)	NC_000011.9:g.71146710C>T	(Likely) pathogenic	1 lab	c8a417d04b
22:25597368 CRYBB3 C>T	22	25597368	25597368	C	T	CRYBB3	c.5C>T	NM_004076.5	NP_004067.1:p.(Ala2Val)	NC_000022.10:g.25597368C>T	VUS	1 lab	c8a99d58d0
11:102477395 MMP20 A>G	11	102477395	102477395	A	G	MMP20	c.824T>C	NM_004771.4	NP_004762.2:p.(Val275Ala)	NC_000011.9:g.102477395A>G	(Likely) benign	1 lab	c8ac83975b
5:74043583 GFM2 C>T	5	74043583	74043583	C	T	GFM2	c.542G>A	NM_032380.5	NP_115756.2:p.(Arg181Lys)	NC_000005.9:g.74043583C>T	VUS	1 lab	c8b03b4b1c
X:50339705 SHROOM4 C>A	X	50339705	50339705	C	A	SHROOM4	c.4472G>T	NM_020717.4	NP_065768.2:p.(Ser1491Ile)	NC_000023.10:g.50339705C>A	VUS	1 lab	c8b24b62c1
10:50856652 CHAT G>A	10	50856652	50856652	G	A	CHAT	c.1135G>A	NM_001142933.2	NP_001136405.2:p.(Val379Met)	NC_000010.10:g.50856652G>A	(Likely) benign	1 lab	c8b2e9679a
12:52911474 KRT5 C>T	12	52911474	52911474	C	T	KRT5	c.992G>A	NM_000424.4	NP_000415.2:p.(Arg331His)	NC_000012.11:g.52911474C>T	(Likely) pathogenic	1 lab	c8b52a6fb4
11:1862704 TNNI2 G>A	11	1862704	1862704	G	A	TNNI2	c.472G>A	NM_003282.4	NP_003273.1:p.(Val158Met)	NC_000011.9:g.1862704G>A	VUS	1 lab	c8b5ccfaa3
18:6986259 LAMA1 G>A	18	6986259	6986259	G	A	LAMA1	c.5256C>T	NM_005559.4	NP_005550.2:p.(His1752=)	NC_000018.9:g.6986259G>A	(Likely) benign	1 lab	c8b5ecb626
1:1447756 ATAD3A G>C	1	1447756	1447756	G	C	ATAD3A	c.108G>C	NM_001170535.3	NP_001164006.1:p.(Gly36=)	NC_000001.10:g.1447756G>C	(Likely) benign	1 lab	c8b71ca40f
X:122993592 XIAP A>T	X	122993592	122993592	A	T	XIAP	c.-33+4A>T	NM_001378592.1	NP_001365521.1:p.?	NC_000023.10:g.122993592A>T	(Likely) benign	1 lab	c8b8fd63bf
2:50765790 NRXN1 G>A	2	50765790	50765790	G	A	NRXN1	c.1880-16C>T	NM_001135659.3	NP_001129131.1:p.?	NC_000002.11:g.50765790G>A	(Likely) benign	1 lab	c8cf2552a2
3:48508366 TREX1 G>C	3	48508366	48508366	G	C	TREX1	c.312G>C	NM_033629.6	NP_338599.1:p.(Leu104=)	NC_000003.11:g.48508366G>C	(Likely) benign	1 lab	c8d15e6b0d
7:116165158 CAV1 T>TG	7	116165158	116165165	T	TG	CAV1	c.30+19dup	NM_001753.5	NP_001744.2:p.?	NC_000007.13:g.116165165dup	(Likely) benign	1 lab	c8da401e1b
3:48607613 COL7A1 T>C	3	48607613	48607613	T	C	COL7A1	c.7441-2A>G	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48607613T>C	(Likely) pathogenic	1 lab	c8e3f3f242
2:100203710 AFF3 T>C	2	100203710	100203710	T	C	AFF3	c.2497A>G	NM_002285.3	NP_002276.2:p.(Lys833Glu)	NC_000002.11:g.100203710T>C	VUS	1 lab	c8e5581224
17:78298938 RNF213 A>G	17	78298938	78298938	A	G	RNF213	c.3133=	NM_001256071.3	NP_001243000.2:p.(Asp1045=)	NC_000017.10:g.78298938A>G	(Likely) benign	1 lab	c8e57ca40f
X:47062127 UBA1 A>T	X	47062127	47062127	A	T	UBA1	c.1147A>T	NM_003334.4	NP_003325.2:p.(Ile383Phe)	NC_000023.10:g.47062127A>T	VUS	1 lab	c8e6bf06b1
17:39913683 JUP G>A	17	39913683	39913683	G	A	JUP	c.2030C>T	NM_002230.4	NP_002221.1:p.(Pro677Leu)	NC_000017.10:g.39913683G>A	VUS	1 lab	c8ed2d5228
9:130941377 CIZ1 T>C	9	130941377	130941377	T	C	CIZ1	c.1199A>G	NM_001257975.2	NP_001244904.1:p.(Glu400Gly)	NC_000009.11:g.130941377T>C	(Likely) benign	1 lab	c8ee11ad25
10:112340678 SMC3 C>T	10	112340678	112340678	C	T	SMC3	c.446C>T	NM_005445.4	NP_005436.1:p.(Thr149Ile)	NC_000010.10:g.112340678C>T	VUS	1 lab	c8eeed2683
X:50377758 SHROOM4 C>T	X	50377758	50377758	C	T	SHROOM4	c.1315G>A	NM_020717.4	NP_065768.2:p.(Val439Ile)	NC_000023.10:g.50377758C>T	(Likely) benign	1 lab	c8f329d5e2
14:24709828 TINF2 C>G	14	24709828	24709828	C	G	TINF2	c.858G>C	NM_012461.3	NP_036593.2:p.(Met286Ile)	NC_000014.8:g.24709828C>G	VUS	1 lab	c8f61de008
16:1816008 MAPK8IP3 G>T	16	1816008	1816008	G	T	MAPK8IP3	c.2494G>T	NM_001318852.2	NP_001305781.1:p.(Asp832Tyr)	NC_000016.9:g.1816008G>T	VUS	1 lab	c8f621a7a1
13:32912354 BRCA2 AAT>A	13	32912354	32912357	AAT	A	BRCA2	c.3864_3865del	NM_000059.4	NP_000050.3:p.(Asn1288LysfsTer9)	NC_000013.10:g.32912356_32912357del	(Likely) pathogenic	1 lab	c8f8e63f4e
1:20972042 PINK1 C>T	1	20972042	20972042	C	T	PINK1	c.960-11C>T	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20972042C>T	(Likely) benign	1 lab	c8fc982bfe
4:158224719 GRIA2 C>T	4	158224719	158224719	C	T	GRIA2	c.245C>T	NM_001083619.3	NP_001077088.2:p.(Ser82Leu)	NC_000004.11:g.158224719C>T	VUS	1 lab	c8fe434316
X:32366571 DMD T>G	X	32366571	32366571	T	G	DMD	c.5400A>C	NM_004006.3	NP_003997.2:p.(Glu1800Asp)	NC_000023.10:g.32366571T>G	VUS	1 lab	c9d6514367
11:2905006 CDKN1C A>G	11	2905006	2905006	A	G	CDKN1C	c.526T>C	NM_001362475.2	NP_001349404.1:p.(Ter176ArgextTer13)	NC_000011.9:g.2905006A>G	VUS	1 lab	c9006e1dd5
5:176638434 NSD1 C>T	5	176638434	176638434	C	T	NSD1	c.3034C>T	NM_022455.5	NP_071900.2:p.(Arg1012Cys)	NC_000005.9:g.176638434C>T	VUS	1 lab	c902b9dc9d
17:41246292 BRCA1 AC>A	17	41246292	41246294	AC	A	BRCA1	c.1255del	NM_007294.4	NP_009225.1:p.(Val419Ter)	NC_000017.10:g.41246294del	(Likely) pathogenic	1 lab	c90d8dad7c
17:61685341 TACO1 C>T	17	61685341	61685341	C	T	TACO1	c.873C>T	NM_016360.4	NP_057444.2:p.(His291=)	NC_000017.10:g.61685341C>T	(Likely) benign	1 lab	c912cc57b7
12:103237462 PAH G>A	12	103237462	103237462	G	A	PAH	c.1161C>T	NM_000277.3	NP_000268.1:p.(Tyr387=)	NC_000012.11:g.103237462G>A	(Likely) benign	1 lab	c913acb139
9:2115966 SMARCA2 G>A	9	2115966	2115966	G	A	SMARCA2	c.3601G>A	NM_003070.5	NP_003061.3:p.(Ala1201Thr)	NC_000009.11:g.2115966G>A	VUS	1 lab	c91452792b
2:130914172 SMPD4 C>A	2	130914172	130914172	C	A	SMPD4	c.1174G>T	NM_017951.5	NP_060421.3:p.(Ala392Ser)	NC_000002.11:g.130914172C>A	VUS	1 lab	c91ea9aee1
1:45294824 PTCH2 C>T	1	45294824	45294824	C	T	PTCH2	c.1371+5G>A	NM_001166292.2	NP_001159764.1:p.?	NC_000001.10:g.45294824C>T	(Likely) benign	1 lab	c92269acc5
22:46761160 CELSR1 G>A	22	46761160	46761160	G	A	CELSR1	c.8522C>T	NM_014246.4	NP_055061.1:p.(Pro2841Leu)	NC_000022.10:g.46761160G>A	(Likely) benign	1 lab	c92499414e
1:7796446 CAMTA1 C>T	1	7796446	7796446	C	T	CAMTA1	c.3109C>T	NM_015215.4	NP_056030.1:p.(Arg1037Cys)	NC_000001.10:g.7796446C>T	VUS	1 lab	c929a74eee
1:154600429 ADAR C>T	1	154600429	154600429	C	T	ADAR	c.42+1G>A	NM_001365045.1	NP_001351974.1:p.?	NC_000001.10:g.154600429C>T	VUS	1 lab	c93053e218
2:179477238 TTN AT>A	2	179477238	179477242	AT	A	TTN	c.50013del	NM_001267550.2	NP_001254479.2:p.(Lys16671AsnfsTer45)	NC_000002.11:g.179477242del	(Likely) pathogenic	1 lab	c931b57324
1:46658069 POMGNT1 G>A	1	46658069	46658069	G	A	POMGNT1	c.1324C>T	NM_001243766.2	NP_001230695.2:p.(Arg442Cys)	NC_000001.10:g.46658069G>A	(Likely) pathogenic	1 lab	c93641fd5e
20:49508234 ADNP G>C	20	49508234	49508234	G	C	ADNP	c.3017C>G	NM_015339.5	NP_056154.1:p.(Ala1006Gly)	NC_000020.10:g.49508234G>C	(Likely) benign	1 lab	c93e3ddd07
22:21346110 LZTR1 G>A	22	21346110	21346110	G	A	LZTR1	c.985G>A	NM_006767.4	NP_006758.2:p.(Asp329Asn)	NC_000022.10:g.21346110G>A	VUS	1 lab	c93e8d9e98
1:3102888 PRDM16 G>T	1	3102888	3102888	G	T	PRDM16	c.237G>T	NM_022114.4	NP_071397.3:p.(Pro79=)	NC_000001.10:g.3102888G>T	(Likely) benign	1 lab	c93ffb0be7
8:126079925 WASHC5 T>C	8	126079925	126079925	T	C	WASHC5	c.1187A>G	NM_014846.4	NP_055661.3:p.(Lys396Arg)	NC_000008.10:g.126079925T>C	(Likely) benign	1 lab	c940c861e4
6:169008822 SMOC2 TC>T	6	169008822	169008828	TC	T	SMOC2	c.858-9del	NM_022138.3	NP_071421.1:p.?	NC_000006.11:g.169008828del	(Likely) benign	1 lab	c942bc1fc6
12:96387920 HAL C>T	12	96387920	96387920	C	T	HAL	c.359G>A	NM_002108.4	NP_002099.1:p.(Arg120His)	NC_000012.11:g.96387920C>T	VUS	1 lab	c94cbaef41
3:136068205 STAG1 A>C	3	136068205	136068205	A	C	STAG1	c.3066T>G	NM_005862.3	NP_005853.2:p.(Val1022=)	NC_000003.11:g.136068205A>C	(Likely) benign	1 lab	c94e1c1d4a
2:178098017 NFE2L2 C>G	2	178098017	178098017	C	G	NFE2L2	c.363G>C	NM_006164.5	NP_006155.2:p.(Gln121His)	NC_000002.11:g.178098017C>G	(Likely) benign	1 lab	c94f8e7e84
13:32914706 BRCA2 TC>T	13	32914706	32914708	TC	T	BRCA2	c.6216del	NM_000059.4	NP_000050.3:p.(Leu2073TyrfsTer8)	NC_000013.10:g.32914708del	(Likely) pathogenic	1 lab	c94ff329a8
1:186276661 PRG4 A>G	1	186276661	186276661	A	G	PRG4	c.1810A>G	NM_005807.6	NP_005798.3:p.(Thr604Ala)	NC_000001.10:g.186276661A>G	(Likely) benign	1 lab	c950f0d467
7:91669960 AKAP9 GT>G	7	91669960	91669977	GT	G	AKAP9	c.4693-11del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91669977del	(Likely) benign	1 lab	c952235a86
5:78135250 ARSB C>G	5	78135250	78135250	C	G	ARSB	c.1143-1G>C	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78135250C>G	(Likely) pathogenic	1 lab	c95253f27d
13:32914935 BRCA2 CTA>C	13	32914935	32914938	CTA	C	BRCA2	c.6445_6446del	NM_000059.4	NP_000050.3:p.(Ile2149Ter)	NC_000013.10:g.32914937_32914938del	(Likely) pathogenic	1 lab	c95346ae51
6:149721804 TAB2 G>A	6	149721804	149721804	G	A	TAB2	c.1939+1484G>A	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149721804G>A	(Likely) benign	1 lab	c954450da7
22:40075362 CACNA1I C>T	22	40075362	40075362	C	T	CACNA1I	c.5306C>T	NM_021096.4	NP_066919.2:p.(Pro1769Leu)	NC_000022.10:g.40075362C>T	VUS	1 lab	c95a27853d
15:90628064 IDH2 T>C	15	90628064	90628064	T	C	IDH2	c.1255A>G	NM_002168.4	NP_002159.2:p.(Ile419Val)	NC_000015.9:g.90628064T>C	VUS	1 lab	c95aacf5e0
1:109444456 GPSM2 A>G	1	109444456	109444456	A	G	GPSM2	c.842A>G	NM_013296.5	NP_037428.3:p.(Glu281Gly)	NC_000001.10:g.109444456A>G	VUS	1 lab	c95e7ae605
9:103340711 CAVIN4 G>C	9	103340711	103340711	G	C	CAVIN4	c.286G>C	NM_001018116.2	NP_001018126.1:p.(Val96Leu)	NC_000009.11:g.103340711G>C	VUS	1 lab	c95f3d25f3
22:26839137 HPS4 C>G	22	26839137	26839137	C	G	HPS4	c.*1511G>C	NM_001349904.2	NP_001336833.1:p.?	NC_000022.10:g.26839137C>G	(Likely) benign	1 lab	c964f0905f
2:11389842 ROCK2 A>C	2	11389842	11389842	A	C	ROCK2	c.407T>G	NM_004850.5	NP_004841.2:p.(Phe136Cys)	NC_000002.11:g.11389842A>C	(Likely) benign	1 lab	c966934e31
12:974361 WNK1 A>AC	12	974361	974365	A	AC	WNK1	c.2229dup	NM_213655.5	NP_998820.3:p.(Thr744HisfsTer27)	NC_000012.11:g.974365dup	(Likely) pathogenic	1 lab	c96aeb5a4a
19:41512841 CYP2B6 G>T	19	41512841	41512841	G	T	CYP2B6	c.516G>T	NM_000767.5	NP_000758.1:p.(Gln172His)	NC_000019.9:g.41512841G>T	(Likely) benign	1 lab	c96f8cd4f3
4:88964568 PKD2 C>T	4	88964568	88964568	C	T	PKD2	c.1278C>T	NM_000297.4	NP_000288.1:p.(Phe426=)	NC_000004.11:g.88964568C>T	(Likely) benign	1 lab	c97167dd4c
9:98224161 PTCH1 C>T	9	98224161	98224161	C	T	PTCH1	c.2680G>A	NM_000264.5	NP_000255.2:p.(Asp894Asn)	NC_000009.11:g.98224161C>T	(Likely) benign	1 lab	c97183f4a3
15:34040721 RYR3 G>A	15	34040721	34040721	G	A	RYR3	c.8189G>A	NM_001036.6	NP_001027.3:p.(Arg2730Lys)	NC_000015.9:g.34040721G>A	VUS	1 lab	c9744e4846
15:43548820 TGM5 G>T	15	43548820	43548820	G	T	TGM5	c.501C>A	NM_201631.4	NP_963925.2:p.(Phe167Leu)	NC_000015.9:g.43548820G>T	VUS	1 lab	c976decdeb
11:118461196 ARCN1 A>T	11	118461196	118461196	A	T	ARCN1	c.959A>T	NM_001655.5	NP_001646.2:p.(Glu320Val)	NC_000011.9:g.118461196A>T	VUS	1 lab	c977d237b5
2:179596019 TTN G>T	2	179596019	179596019	G	T	TTN	c.17461+13C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179596019G>T	(Likely) benign	1 lab	c97967d3b2
14:77493647 IRF2BPL A>AGCGGCGGCG	14	77493647	77493676	A	AGCGGCGGCG	IRF2BPL	c.480_488dup	NM_024496.4	NP_078772.1:p.(Ala162_Ala164dup)	NC_000014.8:g.77493668_77493676dup	(Likely) benign	1 lab	c97bcb0343
17:59885955 BRIP1 C>T	17	59885955	59885955	C	T	BRIP1	c.791G>A	NM_032043.3	NP_114432.2:p.(Arg264Gln)	NC_000017.10:g.59885955C>T	VUS	1 lab	c97bfafbcb
2:47702176 MSH2 C>T	2	47702176	47702176	C	T	MSH2	c.1772C>T	NM_000251.3	NP_000242.1:p.(Pro591Leu)	NC_000002.11:g.47702176C>T	VUS	1 lab	c97e5b086e
12:113546028 RASAL1 C>T	12	113546028	113546028	C	T	RASAL1	c.1375-1G>A	NM_001193521.3	NP_001180450.1:p.?	NC_000012.11:g.113546028C>T	VUS	1 lab	c97f2e0803
11:108150267 ATM C>G	11	108150267	108150267	C	G	ATM	c.3334C>G	NM_000051.4	NP_000042.3:p.(Pro1112Ala)	NC_000011.9:g.108150267C>G	VUS	1 lab	c981155525
1:183077449 LAMC1 T>G	1	183077449	183077449	T	G	LAMC1	c.762T>G	NM_002293.4	NP_002284.3:p.(Asn254Lys)	NC_000001.10:g.183077449T>G	VUS	1 lab	c98127784f
9:6536093 GLDC G>A	9	6536093	6536093	G	A	GLDC	c.2809C>T	NM_000170.3	NP_000161.2:p.(Arg937Cys)	NC_000009.11:g.6536093G>A	VUS	1 lab	c985e063ea
22:21347098 LZTR1 C>T	22	21347098	21347098	C	T	LZTR1	c.1165C>T	NM_006767.4	NP_006758.2:p.(Leu389Phe)	NC_000022.10:g.21347098C>T	VUS	1 lab	c986c7d707
16:55730124 SLC6A2 A>C	16	55730124	55730124	A	C	SLC6A2	c.1148-13A>C	NM_001172501.3	NP_001165972.1:p.?	NC_000016.9:g.55730124A>C	(Likely) benign	1 lab	c987dc9807
18:19371418 MIB1 C>T	18	19371418	19371418	C	T	MIB1	c.992C>T	NM_020774.4	NP_065825.1:p.(Ser331Leu)	NC_000018.9:g.19371418C>T	VUS	1 lab	c98cd24d3b
20:23028654 THBD C>G	20	23028654	23028654	C	G	THBD	c.1488G>C	NM_000361.3	NP_000352.1:p.(Pro496=)	NC_000020.10:g.23028654C>G	(Likely) benign	1 lab	c996e6beee
13:48916843 RB1 G>T	13	48916843	48916843	G	T	RB1	c.373G>T	NM_000321.3	NP_000312.2:p.(Glu125Ter)	NC_000013.10:g.48916843G>T	(Likely) pathogenic	1 lab	c997a49daa
2:150432256 MMADHC A>G	2	150432256	150432256	A	G	MMADHC	c.578T>C	NM_015702.3	NP_056517.1:p.(Val193Ala)	NC_000002.11:g.150432256A>G	VUS	1 lab	c99d71d26a
6:3105948 RIPK1 C>T	6	3105948	3105948	C	T	RIPK1	c.1239C>T	NM_003804.6	NP_003795.2:p.(Arg413=)	NC_000006.11:g.3105948C>T	(Likely) benign	1 lab	c9a1fa1336
2:179589233 TTN T>A	2	179589233	179589233	T	A	TTN	c.20869A>T	NM_001267550.2	NP_001254479.2:p.(Met6957Leu)	NC_000002.11:g.179589233T>A	VUS	1 lab	c9a4e9d153
16:3779382 CREBBP G>A	16	3779382	3779382	G	A	CREBBP	c.5666C>T	NM_004380.3	NP_004371.2:p.(Pro1889Leu)	NC_000016.9:g.3779382G>A	(Likely) benign	1 lab	c9ab88b458
14:64469843 SYNE2 T>C	14	64469843	64469843	T	C	SYNE2	c.4192T>C	NM_182914.3	NP_878918.2:p.(Ser1398Pro)	NC_000014.8:g.64469843T>C	VUS	1 lab	c9b360e68e
2:179613157 TTN G>A	2	179613157	179613157	G	A	TTN	c.13970C>T	NM_133379.5	NP_596870.2:p.(Pro4657Leu)	NC_000002.11:g.179613157G>A	VUS	1 lab	c9b3723901
22:42059806 XRCC6 AC>A	22	42059806	42059807	AC	A	XRCC6	c.1818del	NM_001469.5	NP_001460.1:p.(Phe607SerfsTer41)	NC_000022.10:g.42059807del	VUS	1 lab	c9b866c2d6
17:40688633 NAGLU C>T	17	40688633	40688633	C	T	NAGLU	c.343C>T	NM_000263.4	NP_000254.2:p.(Pro115Ser)	NC_000017.10:g.40688633C>T	(Likely) pathogenic	1 lab	c9ba0441ae
19:13201146 NFIX G>A	19	13201146	13201146	G	A	NFIX	c.1460G>A	NM_001271043.2	NP_001257972.1:p.(Arg487Gln)	NC_000019.9:g.13201146G>A	VUS	1 lab	c9c0519b6c
5:125929000 ALDH7A1 A>AACACAC	5	125929000	125929036	A	AACACAC	ALDH7A1	c.246+37_246+42dup	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929031_125929036dup	(Likely) benign	1 lab	c9c97d1aa9
8:61729019 CHD7 C>CT	8	61729019	61729020	C	CT	CHD7	c.2572_2573insT	NM_017780.4	NP_060250.2:p.(Arg858LeufsTer3)	NC_000008.10:g.61729019_61729020insT	(Likely) pathogenic	1 lab	c9ca6e1cce
12:48249485 VDR G>T	12	48249485	48249485	G	T	VDR	c.833C>A	NM_001017536.2	NP_001017536.1:p.(Pro278His)	NC_000012.11:g.48249485G>T	VUS	1 lab	c9ccc6b760
15:85401676 ALPK3 G>A	15	85401676	85401676	G	A	ALPK3	c.3707G>A	NM_020778.5	NP_065829.4:p.(Gly1236Glu)	NC_000015.9:g.85401676G>A	VUS	1 lab	c9d6036d77
1:78407710 NEXN AGAT>A	1	78407710	78407717	AGAT	A	NEXN	c.1481_1483del	NM_144573.4	NP_653174.3:p.(Asp494del)	NC_000001.10:g.78407715_78407717del	VUS	1 lab	c9e172a0a7
13:48953760 RB1 C>T	13	48953760	48953760	C	T	RB1	c.1363C>T	NM_000321.3	NP_000312.2:p.(Arg455Ter)	NC_000013.10:g.48953760C>T	(Likely) pathogenic	1 lab	c9e2334a3d
2:197183858 HECW2 C>T	2	197183858	197183858	C	T	HECW2	c.1756G>A	NM_020760.4	NP_065811.1:p.(Asp586Asn)	NC_000002.11:g.197183858C>T	(Likely) benign	1 lab	c9e2a1c68d
17:41832934 SOST G>C	17	41832934	41832934	G	C	SOST	c.418C>G	NM_025237.3	NP_079513.1:p.(Arg140Gly)	NC_000017.10:g.41832934G>C	VUS	1 lab	c9e2ee1d8c
2:32449789 NLRC4 T>A	2	32449789	32449789	T	A	NLRC4	c.2828A>T	NM_021209.4	NP_067032.3:p.(Asn943Ile)	NC_000002.11:g.32449789T>A	VUS	1 lab	c9e5a233cc
13:33590851 KL T>C	13	33590851	33590851	T	C	KL	c.273T>C	NM_004795.4	NP_004786.2:p.(Asp91=)	NC_000013.10:g.33590851T>C	(Likely) benign	1 lab	c9e944540d
2:96931089 TMEM127 CG>C	2	96931089	96931092	CG	C	TMEM127	c.30del	NM_017849.4	NP_060319.1:p.(Gly11AlafsTer70)	NC_000002.11:g.96931092del	(Likely) pathogenic	1 lab	c9eab0e6be
17:62479028 POLG2 T>TA	17	62479028	62479030	T	TA	POLG2	c.1191+7dup	NM_007215.4	NP_009146.2:p.?	NC_000017.10:g.62479030dup	(Likely) benign	1 lab	c9ec84d1f9
15:54003091 WDR72 G>A	15	54003091	54003091	G	A	WDR72	c.917C>T	NM_182758.4	NP_877435.3:p.(Pro306Leu)	NC_000015.9:g.54003091G>A	(Likely) benign	1 lab	c9f134b508
2:179632871 TTN C>T	2	179632871	179632871	C	T	TTN	c.9175G>A	NM_001267550.2	NP_001254479.2:p.(Glu3059Lys)	NC_000002.11:g.179632871C>T	VUS	1 lab	c9f2a1edca
1:85742012 BCL10 G>C	1	85742012	85742012	G	C	BCL10	c.24C>G	NM_003921.5	NP_003912.1:p.(Leu8=)	NC_000001.10:g.85742012G>C	(Likely) benign	1 lab	c9f38479e0
11:77820573 ALG8 C>T	11	77820573	77820573	C	T	ALG8	c.953G>A	NM_024079.5	NP_076984.2:p.(Ser318Asn)	NC_000011.9:g.77820573C>T	VUS	1 lab	c9f3e2774d
13:32936732 BRCA2 G>C	13	32936732	32936732	G	C	BRCA2	c.7878G>C	NM_000059.4	NP_000050.3:p.(Trp2626Cys)	NC_000013.10:g.32936732G>C	(Likely) pathogenic	1 lab	c9f4697a99
20:52786155 CYP24A1 C>T	20	52786155	52786155	C	T	CYP24A1	c.616G>A	NM_000782.5	NP_000773.2:p.(Glu206Lys)	NC_000020.10:g.52786155C>T	VUS	1 lab	c9fac2b997
2:145147214 ZEB2 T>C	2	145147214	145147214	T	C	ZEB2	c.3449A>G	NM_014795.4	NP_055610.1:p.(Lys1150Arg)	NC_000002.11:g.145147214T>C	VUS	1 lab	c9fb680a8b
19:11132523 SMARCA4 G>A	19	11132523	11132523	G	A	SMARCA4	c.2739G>A	NM_001128844.3	NP_001122316.1:p.(Pro913=)	NC_000019.9:g.11132523G>A	(Likely) benign	1 lab	c9fd27d3ae
1:10683091 PEX14 C>G	1	10683091	10683091	C	G	PEX14	c.400C>G	NM_004565.3	NP_004556.1:p.(Leu134Val)	NC_000001.10:g.10683091C>G	(Likely) benign	1 lab	c9fe3b2342
2:179424243 TTN A>G	2	179424243	179424243	A	G	TTN	c.86616T>C	NM_001267550.2	NP_001254479.2:p.(Asp28872=)	NC_000002.11:g.179424243A>G	(Likely) benign	1 lab	c9fe6df4e3
2:138722158 HNMT C>T	2	138722158	138722158	C	T	HNMT	c.97C>T	NM_006895.3	NP_008826.1:p.(Gln33Ter)	NC_000002.11:g.138722158C>T	VUS	1 lab	ca05c6648b
10:75526271 SEC24C G>A	10	75526271	75526271	G	A	SEC24C	c.1771G>A	NM_004922.4	NP_004913.2:p.(Val591Ile)	NC_000010.10:g.75526271G>A	VUS	1 lab	ca08b95b44
X:153594977 FLNA G>A	X	153594977	153594977	G	A	FLNA	c.1018C>T	NM_001456.4	NP_001447.2:p.(Arg340Cys)	NC_000023.10:g.153594977G>A	VUS	1 lab	ca09f2d076
6:7580540 DSP A>G	6	7580540	7580540	A	G	DSP	c.4117A>G	NM_004415.4	NP_004406.2:p.(Thr1373Ala)	NC_000006.11:g.7580540A>G	VUS	1 lab	ca0a83222b
9:5022218 JAK2 G>A	9	5022218	5022218	G	A	JAK2	c.226+5G>A	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5022218G>A	(Likely) benign	1 lab	ca0c0f869e
X:16168677 GRPR T>C	X	16168677	16168677	T	C	GRPR	c.663T>C	NM_005314.3	NP_005305.1:p.(Ile221=)	NC_000023.10:g.16168677T>C	(Likely) benign	1 lab	ca0ebd35f6
9:135204594 SETX CTTCT>C	9	135204594	135204600	CTTCT	C	SETX	c.2387_2390del	NM_015046.7	NP_055861.3:p.(Lys796SerfsTer15)	NC_000009.11:g.135204597_135204600del	(Likely) pathogenic	1 lab	ca0eda2c07
X:119054649 NKAP A>G	X	119054649	119054649	A	G	NKAP	c.*4534T>C	NM_024528.4	NP_078804.2:p.?	NC_000023.10:g.119054649A>G	VUS	1 lab	ca0fe3cf4b
X:32867871 DMD G>T	X	32867871	32867871	G	T	DMD	c.160C>A	NM_004006.3	NP_003997.2:p.(Leu54Ile)	NC_000023.10:g.32867871G>T	VUS	1 lab	ca112ba297
7:128493858 FLNC G>A	7	128493858	128493858	G	A	FLNC	c.6451G>A	NM_001458.5	NP_001449.3:p.(Gly2151Ser)	NC_000007.13:g.128493858G>A	VUS	1 lab	ca118cecbd
2:179530099 TTN C>T	2	179530099	179530099	C	T	TTN	c.36043+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179530099C>T	VUS	1 lab	ca1524001f
16:68847248 CDH1 C>G	16	68847248	68847248	C	G	CDH1	c.1170C>G	NM_004360.5	NP_004351.1:p.(Asn390Lys)	NC_000016.9:g.68847248C>G	VUS	1 lab	ca1c5da8de
6:7584061 DSP G>A	6	7584061	7584061	G	A	DSP	c.6566G>A	NM_004415.4	NP_004406.2:p.(Arg2189Gln)	NC_000006.11:g.7584061G>A	VUS	1 lab	ca1cfd4fc5
2:179448394 TTN C>T	2	179448394	179448394	C	T	TTN	c.65515G>A	NM_001267550.2	NP_001254479.2:p.(Ala21839Thr)	NC_000002.11:g.179448394C>T	VUS	1 lab	ca21c6d5c2
14:91739081 CCDC88C A>G	14	91739081	91739081	A	G	CCDC88C	c.5975T>C	NM_001080414.4	NP_001073883.2:p.(Leu1992Pro)	NC_000014.8:g.91739081A>G	(Likely) benign	1 lab	ca22d91d24
5:71494177 MAP1B G>T	5	71494177	71494177	G	T	MAP1B	c.4995G>T	NM_005909.5	NP_005900.2:p.(Gln1665His)	NC_000005.9:g.71494177G>T	VUS	1 lab	ca2a035057
20:30904554 KIF3B T>C	20	30904554	30904554	T	C	KIF3B	c.1630-5T>C	NM_004798.4	NP_004789.1:p.?	NC_000020.10:g.30904554T>C	(Likely) benign	1 lab	ca2e7c59e1
6:31083813 CDSN T>C	6	31083813	31083813	T	C	CDSN	c.1579A>G	NM_001264.5	NP_001255.4:p.(Asn527Asp)	NC_000006.11:g.31083813T>C	(Likely) benign	1 lab	ca338b3091
3:183368145 KLHL24 A>G	3	183368145	183368145	A	G	KLHL24	c.1A>G	NM_001349419.1	NP_001336348.1:p.(Met1?)	NC_000003.11:g.183368145A>G	(Likely) pathogenic	1 lab	ca358a6b94
9:94486923 ROR2 G>A	9	94486923	94486923	G	A	ROR2	c.1853C>T	NM_004560.4	NP_004551.2:p.(Thr618Ile)	NC_000009.11:g.94486923G>A	VUS	1 lab	ca36916b9e
3:128205139 GATA2 C>T	3	128205139	128205139	C	T	GATA2	c.302G>A	NM_032638.5	NP_116027.2:p.(Gly101Asp)	NC_000003.11:g.128205139C>T	VUS	1 lab	ca3a796451
11:67288594 CABP2 C>T	11	67288594	67288594	C	T	CABP2	c.281G>A	NM_016366.3	NP_057450.2:p.(Arg94Gln)	NC_000011.9:g.67288594C>T	(Likely) benign	1 lab	ca3b6534b4
11:20639400 SLC6A5 A>G	11	20639400	20639400	A	G	SLC6A5	c.1230A>G	NM_004211.5	NP_004202.4:p.(Ser410=)	NC_000011.9:g.20639400A>G	(Likely) benign	1 lab	ca3bf4bfb4
X:153791882 IKBKG A>C	X	153791882	153791882	A	C	IKBKG	c.1021A>C	NM_001099857.5	NP_001093327.1:p.(Ser341Arg)	NC_000023.10:g.153791882A>C	VUS	1 lab	ca3c69ea69
1:3321298 PRDM16 C>T	1	3321298	3321298	C	T	PRDM16	c.885-5C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3321298C>T	(Likely) benign	1 lab	ca3d459886
9:109691019 ZNF462 C>T	9	109691019	109691019	C	T	ZNF462	c.4826C>T	NM_021224.6	NP_067047.4:p.(Ser1609Phe)	NC_000009.11:g.109691019C>T	VUS	1 lab	ca44ac53bc
X:53239868 KDM5C A>C	X	53239868	53239868	A	C	KDM5C	c.1573T>G	NM_004187.5	NP_004178.2:p.(Tyr525Asp)	NC_000023.10:g.53239868A>C	(Likely) pathogenic	1 lab	ca4ff50bb9
11:837295 CD151 C>A	11	837295	837295	C	A	CD151	c.397C>A	NM_004357.5	NP_004348.2:p.(Arg133Ser)	NC_000011.9:g.837295C>A	VUS	1 lab	ca52462e50
16:67645143 CTCF G>A	16	67645143	67645143	G	A	CTCF	c.408G>A	NM_006565.4	NP_006556.1:p.(Gly136=)	NC_000016.9:g.67645143G>A	(Likely) benign	1 lab	ca537f86eb
2:200213852 SATB2 C>A	2	200213852	200213852	C	A	SATB2	c.745G>T	NM_015265.4	NP_056080.1:p.(Gly249Cys)	NC_000002.11:g.200213852C>A	VUS	1 lab	ca54b48311
3:195785211 TFRC C>T	3	195785211	195785211	C	T	TFRC	c.1621G>A	NM_003234.4	NP_003225.2:p.(Ala541Thr)	NC_000003.11:g.195785211C>T	VUS	1 lab	ca550487d2
2:179412910 TTN T>C	2	179412910	179412910	T	C	TTN	c.93443A>G	NM_001267550.2	NP_001254479.2:p.(Tyr31148Cys)	NC_000002.11:g.179412910T>C	VUS	1 lab	ca577d813b
6:149699904 TAB2 A>C	6	149699904	149699904	A	C	TAB2	c.853A>C	NM_015093.6	NP_055908.1:p.(Met285Leu)	NC_000006.11:g.149699904A>C	VUS	1 lab	ca5a75b82d
17:4802632 CHRNE G>GGGC	17	4802632	4802643	G	GGGC	CHRNE	c.1077_1079dup	NM_000080.4	NP_000071.1:p.(Pro360dup)	NC_000017.10:g.4802641_4802643dup	VUS	1 lab	ca5cb42143
15:44859657 SPG11 C>T	15	44859657	44859657	C	T	SPG11	c.6719G>A	NM_025137.4	NP_079413.3:p.(Arg2240His)	NC_000015.9:g.44859657C>T	VUS	1 lab	ca6bcb786c
14:24624888 RNF31 G>A	14	24624888	24624888	G	A	RNF31	c.2480G>A	NM_017999.5	NP_060469.4:p.(Arg827His)	NC_000014.8:g.24624888G>A	VUS	1 lab	ca6cc1a8cd
3:47139547 SETD2 G>C	3	47139547	47139547	G	C	SETD2	c.5040C>G	NM_014159.7	NP_054878.5:p.(Cys1680Trp)	NC_000003.11:g.47139547G>C	VUS	1 lab	ca6d3699c8
20:44052984 PIGT G>C	20	44052984	44052984	G	C	PIGT	c.1363G>C	NM_015937.6	NP_057021.2:p.(Glu455Gln)	NC_000020.10:g.44052984G>C	VUS	1 lab	ca6e63fe20
20:10639138 JAG1 C>G	20	10639138	10639138	C	G	JAG1	c.672G>C	NM_000214.3	NP_000205.1:p.(Trp224Cys)	NC_000020.10:g.10639138C>G	(Likely) pathogenic	1 lab	ca707fc605
8:126094630 WASHC5 G>A	8	126094630	126094630	G	A	WASHC5	c.412C>T	NM_014846.4	NP_055661.3:p.(Leu138Phe)	NC_000008.10:g.126094630G>A	VUS	1 lab	ca70acb74c
11:57571246 CTNND1 C>T	11	57571246	57571246	C	T	CTNND1	c.1574C>T	NM_001085458.2	NP_001078927.1:p.(Ser525Leu)	NC_000011.9:g.57571246C>T	VUS	1 lab	ca7176506c
17:59761029 BRIP1 T>G	17	59761029	59761029	T	G	BRIP1	c.3378A>C	NM_032043.3	NP_114432.2:p.(Glu1126Asp)	NC_000017.10:g.59761029T>G	(Likely) benign	1 lab	ca7c52fbc7
8:68334900 CPA6 A>G	8	68334900	68334900	A	G	CPA6	c.1153T>C	NM_020361.5	NP_065094.3:p.(Trp385Arg)	NC_000008.10:g.68334900A>G	VUS	1 lab	cc1f1a512a
X:73744608 SLC16A2 T>A	X	73744608	73744608	T	A	SLC16A2	c.990T>A	NM_006517.5	NP_006508.2:p.(Ala330=)	NC_000023.10:g.73744608T>A	(Likely) benign	1 lab	ca7d9c9bad
1:63063667 ANGPTL3 CAACT>C	1	63063667	63063679	CAACT	C	ANGPTL3	c.439_442del	NM_014495.4	NP_055310.1:p.(Asn147Ter)	NC_000001.10:g.63063676_63063679del	(Likely) pathogenic	1 lab	ca86db61bd
1:120611554 NOTCH2 T>C	1	120611554	120611554	T	C	NOTCH2	c.73+394A>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611554T>C	(Likely) benign	1 lab	ca878b9f33
8:42694510 THAP1 C>T	8	42694510	42694510	C	T	THAP1	c.86G>A	NM_018105.3	NP_060575.1:p.(Arg29Gln)	NC_000008.10:g.42694510C>T	(Likely) pathogenic	1 lab	ca8a1f67d5
1:43804954 MPL C>G	1	43804954	43804954	C	G	MPL	c.404C>G	NM_005373.3	NP_005364.1:p.(Pro135Arg)	NC_000001.10:g.43804954C>G	VUS	1 lab	ca95095b47
9:135771691 TSC1 G>T	9	135771691	135771691	G	T	TSC1	c.3426C>A	NM_000368.5	NP_000359.1:p.(Pro1142=)	NC_000009.11:g.135771691G>T	(Likely) benign	1 lab	ca998ccdaa
17:41246349 BRCA1 T>C	17	41246349	41246349	T	C	BRCA1	c.1199A>G	NM_007294.4	NP_009225.1:p.(Asp400Gly)	NC_000017.10:g.41246349T>C	VUS	1 lab	ca9a3b1e18
4:996204 IDUA A>C	4	996204	996204	A	C	IDUA	c.1120A>C	NM_000203.5	NP_000194.2:p.(Thr374Pro)	NC_000004.11:g.996204A>C	(Likely) benign	1 lab	ca9c58d35d
15:89862295 POLG C>T	15	89862295	89862295	C	T	POLG	c.3140G>A	NM_002693.3	NP_002684.1:p.(Arg1047Gln)	NC_000015.9:g.89862295C>T	VUS	1 lab	ca9ff6278e
11:66062092 TMEM151A C>T	11	66062092	66062092	C	T	TMEM151A	c.375C>T	NM_153266.4	NP_694998.1:p.(Cys125=)	NC_000011.9:g.66062092C>T	(Likely) benign	1 lab	caa3d1b9c9
17:39776817 KRT17 GA>G	17	39776817	39776828	GA	G	KRT17	c.1182-8del	NM_000422.3	NP_000413.1:p.?	NC_000017.10:g.39776828del	(Likely) benign	1 lab	caa44a1c15
2:152419157 NEB G>A	2	152419157	152419157	G	A	NEB	c.18859C>T	NM_001271208.2	NP_001258137.2:p.(Arg6287Cys)	NC_000002.11:g.152419157G>A	VUS	1 lab	caa64dec65
18:55989679 NEDD4L G>A	18	55989679	55989679	G	A	NEDD4L	c.371G>A	NM_015277.6	NP_056092.2:p.(Arg124Gln)	NC_000018.9:g.55989679G>A	VUS	1 lab	caa6d415bf
2:198265173 SF3B1 T>A	2	198265173	198265173	T	A	SF3B1	c.2719-15A>T	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198265173T>A	(Likely) benign	1 lab	caa758b9ac
2:86447237 REEP1 C>T	2	86447237	86447237	C	T	REEP1	c.639G>A	NM_001371279.1	NP_001358208.1:p.(Glu213=)	NC_000002.11:g.86447237C>T	(Likely) benign	1 lab	caa9f8991d
3:126202257 UROC1 G>A	3	126202257	126202257	G	A	UROC1	c.2025C>T	NM_001165974.2	NP_001159446.1:p.(Ala675=)	NC_000003.11:g.126202257G>A	(Likely) benign	1 lab	caaa8db6e7
1:173879081 SERPINC1 C>T	1	173879081	173879081	C	T	SERPINC1	c.763-1G>A	NM_000488.4	NP_000479.1:p.?	NC_000001.10:g.173879081C>T	(Likely) pathogenic	1 lab	caac769273
7:94931566 PON1 T>C	7	94931566	94931566	T	C	PON1	c.860A>G	NM_000446.7	NP_000437.3:p.(Asn287Ser)	NC_000007.13:g.94931566T>C	VUS	1 lab	cab6de4a0d
13:48955572 RB1 G>T	13	48955572	48955572	G	T	RB1	c.1688G>T	NM_000321.3	NP_000312.2:p.(Trp563Leu)	NC_000013.10:g.48955572G>T	(Likely) pathogenic	1 lab	cab73a8840
1:116228022 VANGL1 C>T	1	116228022	116228022	C	T	VANGL1	c.1188C>T	NM_138959.3	NP_620409.1:p.(Ala396=)	NC_000001.10:g.116228022C>T	(Likely) benign	1 lab	cab95fb3f7
X:152858134 CCNQ G>A	X	152858134	152858134	G	A	CCNQ	c.487C>T	NM_152274.5	NP_689487.2:p.(Arg163Trp)	NC_000023.10:g.152858134G>A	VUS	1 lab	d9fd270b6f
12:6442385 TNFRSF1A C>T	12	6442385	6442385	C	T	TNFRSF1A	c.473-72G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442385C>T	(Likely) benign	1 lab	35d4acdbba
5:36986050 NIPBL G>T	5	36986050	36986050	G	T	NIPBL	c.2768G>T	NM_133433.4	NP_597677.2:p.(Gly923Val)	NC_000005.9:g.36986050G>T	(Likely) benign	1 lab	cace7f885a
9:140638426 EHMT1 G>A	9	140638426	140638426	G	A	EHMT1	c.1054G>A	NM_024757.5	NP_079033.4:p.(Asp352Asn)	NC_000009.11:g.140638426G>A	VUS	1 lab	cad4df3233
1:245319872 KIF26B G>T	1	245319872	245319872	G	T	KIF26B	c.352G>T	NM_018012.4	NP_060482.2:p.(Gly118Cys)	NC_000001.10:g.245319872G>T	(Likely) benign	1 lab	cad5f2c8ff
17:4837783 GP1BA C>T	17	4837783	4837783	C	T	GP1BA	c.1884C>T	NM_000173.7	NP_000164.5:p.(Pro628=)	NC_000017.10:g.4837783C>T	(Likely) benign	1 lab	cada138afb
X:49081291 CACNA1F G>A	X	49081291	49081291	G	A	CACNA1F	c.1842=	NM_005183.4	NP_005174.2:p.(Gly614=)	NC_000023.10:g.49081291G>A	(Likely) benign	1 lab	cada7fe9bc
12:56559174 SMARCC2 G>T	12	56559174	56559174	G	T	SMARCC2	c.3067C>A	NM_003075.5	NP_003066.2:p.(Gln1023Lys)	NC_000012.11:g.56559174G>T	VUS	1 lab	cadb470976
4:152622557 GATB G>A	4	152622557	152622557	G	A	GATB	c.1121C>T	NM_004564.3	NP_004555.1:p.(Pro374Leu)	NC_000004.11:g.152622557G>A	VUS	1 lab	cade4b3b17
12:52841765 KRT6B G>A	12	52841765	52841765	G	A	KRT6B	c.1221C>T	NM_005555.4	NP_005546.2:p.(Ala407=)	NC_000012.11:g.52841765G>A	(Likely) benign	1 lab	cadfe2aefa
10:82045351 MAT1A C>T	10	82045351	82045351	C	T	MAT1A	c.92-6G>A	NM_000429.3	NP_000420.1:p.?	NC_000010.10:g.82045351C>T	(Likely) benign	1 lab	cae80aa54f
7:151864452 KMT2C G>A	7	151864452	151864452	G	A	KMT2C	c.9529C>T	NM_170606.3	NP_733751.2:p.(Arg3177Cys)	NC_000007.13:g.151864452G>A	(Likely) benign	1 lab	cae8f5c8de
8:144990415 PLEC G>A	8	144990415	144990415	G	A	PLEC	c.13655C>T	NM_000445.5	NP_000436.2:p.(Ser4552Leu)	NC_000008.10:g.144990415G>A	VUS	1 lab	caea1f7d5b
9:138606545 KCNT1 C>T	9	138606545	138606545	C	T	KCNT1	c.233C>T	NM_020822.3	NP_065873.2:p.(Pro78Leu)	NC_000009.11:g.138606545C>T	VUS	1 lab	caea62a2b5
17:7750137 KDM6B A>G	17	7750137	7750137	A	G	KDM6B	c.712A>G	NM_001080424.2	NP_001073893.1:p.(Thr238Ala)	NC_000017.10:g.7750137A>G	(Likely) benign	1 lab	caed835344
11:62472981 BSCL2 C>T	11	62472981	62472981	C	T	BSCL2	c.4G>A	NM_032667.6	NP_116056.3:p.(Val2Ile)	NC_000011.9:g.62472981C>T	VUS	1 lab	caee6a3864
3:23942433 NKIRAS1 C>T	3	23942433	23942433	C	T	NKIRAS1	c.106G>A	NM_001377372.1	NP_001364301.1:p.(Gly36Ser)	NC_000003.11:g.23942433C>T	VUS	1 lab	caeeb13849
1:27876273 AHDC1 C>A	1	27876273	27876273	C	A	AHDC1	c.2354G>T	NM_001029882.3	NP_001025053.1:p.(Gly785Val)	NC_000001.10:g.27876273C>A	VUS	1 lab	caf01c7fb6
6:143092874 HIVEP2 C>T	6	143092874	143092874	C	T	HIVEP2	c.3002G>A	NM_006734.4	NP_006725.3:p.(Gly1001Glu)	NC_000006.11:g.143092874C>T	VUS	1 lab	caf7dff018
2:179402067 TTN A>G	2	179402067	179402067	A	G	TTN	c.73045+2T>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179402067A>G	VUS	1 lab	370ff4a82b
16:56857624 NUP93 T>G	16	56857624	56857624	T	G	NUP93	c.660T>G	NM_014669.5	NP_055484.3:p.(Ile220Met)	NC_000016.9:g.56857624T>G	(Likely) benign	1 lab	caf86cc4a0
1:247582054 NLRP3 C>T	1	247582054	247582054	C	T	NLRP3	c.-43C>T	NM_004895.5	NP_004886.3:p.?	NC_000001.10:g.247582054C>T	VUS	1 lab	cafb463616
10:69909756 MYPN T>C	10	69909756	69909756	T	C	MYPN	c.1246-41T>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69909756T>C	(Likely) benign	1 lab	cafc50944d
11:26619992 ANO3 G>A	11	26619992	26619992	G	A	ANO3	c.1528G>A	NM_031418.4	NP_113606.2:p.(Glu510Lys)	NC_000011.9:g.26619992G>A	(Likely) pathogenic	1 lab	cafce8642a
17:41243895 BRCA1 CTAGAT>C	17	41243895	41243900	CTAGAT	C	BRCA1	c.3648_3652del	NM_007294.4	NP_009225.1:p.(Ser1217Ter)	NC_000017.10:g.41243896_41243900del	(Likely) pathogenic	1 lab	cb016966fd
2:179649038 TTN T>A	2	179649038	179649038	T	A	TTN	c.2534A>T	NM_001267550.2	NP_001254479.2:p.(Glu845Val)	NC_000002.11:g.179649038T>A	VUS	1 lab	cb023057f6
22:50964675 TYMP C>T	22	50964675	50964675	C	T	TYMP	c.1159G>A	NM_001953.5	NP_001944.1:p.(Gly387Ser)	NC_000022.10:g.50964675C>T	VUS	1 lab	cb02741a24
19:42798371 CIC G>GAGA	19	42798371	42798377	G	GAGA	CIC	c.4246_4248dup	NM_015125.5	NP_055940.3:p.(Arg1417dup)	NC_000019.9:g.42798375_42798377dup	VUS	1 lab	cb049a0ecb
13:20797357 GJB6 G>A	13	20797357	20797357	G	A	GJB6	c.263C>T	NM_001110219.3	NP_001103689.1:p.(Ala88Val)	NC_000013.10:g.20797357G>A	(Likely) pathogenic	1 lab	cb0516cd1b
17:78171944 CARD14 G>C	17	78171944	78171944	G	C	CARD14	c.1641G>C	NM_024110.4	NP_077015.2:p.(Arg547Ser)	NC_000017.10:g.78171944G>C	(Likely) benign	1 lab	cb0570594e
4:95197520 SMARCAD1 C>T	4	95197520	95197520	C	T	SMARCAD1	c.1839C>T	NM_001128429.3	NP_001121901.1:p.(Asp613=)	NC_000004.11:g.95197520C>T	(Likely) benign	1 lab	cb084ef2ed
11:78189693 NARS2 C>G	11	78189693	78189693	C	G	NARS2	c.859G>C	NM_024678.6	NP_078954.4:p.(Val287Leu)	NC_000011.9:g.78189693C>G	VUS	1 lab	cb0ab29ed9
7:128483367 FLNC C>T	7	128483367	128483367	C	T	FLNC	c.2635C>T	NM_001458.5	NP_001449.3:p.(Arg879Cys)	NC_000007.13:g.128483367C>T	VUS	1 lab	cb1b28156e
12:7053022 RNU7-1 C>T	12	7053022	7053022	C	T	RNU7-1	n.44C>T	NR_023317.1		NC_000012.11:g.7053022C>T	(Likely) benign	1 lab	cb207cd442
16:85695293 GSE1 G>A	16	85695293	85695293	G	A	GSE1	c.1870G>A	NM_001134473.3	NP_001127945.1:p.(Glu624Lys)	NC_000016.9:g.85695293G>A	VUS	1 lab	cb20d527ea
3:128622902 ACAD9 C>T	3	128622902	128622902	C	T	ACAD9	c.959-3C>T	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128622902C>T	(Likely) benign	1 lab	cb21c544d5
17:65343496 PSMD12 T>C	17	65343496	65343496	T	C	PSMD12	c.439A>G	NM_001316341.2	NP_001303270.1:p.(Ser147Gly)	NC_000017.10:g.65343496T>C	VUS	1 lab	cb238a460a
10:115370312 NRAP C>T	10	115370312	115370312	C	T	NRAP	c.3509G>A	NM_001261463.2	NP_001248392.1:p.(Arg1170Gln)	NC_000010.10:g.115370312C>T	VUS	1 lab	cb269008f0
1:152284497 FLG A>G	1	152284497	152284497	A	G	FLG	c.2865T>C	NM_002016.2	NP_002007.1:p.(His955=)	NC_000001.10:g.152284497A>G	(Likely) benign	1 lab	cb2801575d
6:112575101 LAMA4 C>T	6	112575101	112575101	C	T	LAMA4	c.252G>A	NM_001105209.3	NP_001098679.1:p.(Val84=)	NC_000006.11:g.112575101C>T	(Likely) benign	1 lab	cb2e8c9c9c
2:73675692 ALMS1 C>G	2	73675692	73675692	C	G	ALMS1	c.2041C>G	NM_015120.4	NP_055935.4:p.(Arg681Gly)	NC_000002.11:g.73675692C>G	VUS	1 lab	cb39f73fda
6:24523144 ALDH5A1 G>C	6	24523144	24523144	G	C	ALDH5A1	c.1203G>C	NM_170740.1	NP_733936.1:p.(Ala401=)	NC_000006.11:g.24523144G>C	(Likely) benign	1 lab	cb3ad6ad81
2:160289320 BAZ2B TTCA>T	2	160289320	160289328	TTCA	T	BAZ2B	c.1839_1841del	NM_001289975.1	NP_001276904.1:p.(Asp613del)	NC_000002.11:g.160289326_160289328del	VUS	1 lab	cb473df6af
22:19886594 TXNRD2 G>C	22	19886594	19886594	G	C	TXNRD2	c.660-3C>G	NM_001352300.2	NP_001339229.1:p.?	NC_000022.10:g.19886594G>C	VUS	1 lab	cb4782bf76
1:228401183 OBSCN G>C	1	228401183	228401183	G	C	OBSCN	c.1030G>C	NM_052843.4	NP_443075.3:p.(Val344Leu)	NC_000001.10:g.228401183G>C	VUS	1 lab	cb48d55125
16:2152380 PKD1 A>G	16	2152380	2152380	A	G	PKD1	c.9201+2T>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152380A>G	(Likely) pathogenic	1 lab	cb4e12ed91
5:66300915 MAST4 T>TA	5	66300915	66300920	T	TA	MAST4	c.108-49312dup	NM_015183.3	NP_055998.1:p.?	NC_000005.9:g.66300920dup	(Likely) benign	1 lab	cb4e3634b7
5:70944989 MCCC2 G>A	5	70944989	70944989	G	A	MCCC2	c.1282G>A	NM_022132.5	NP_071415.1:p.(Ala428Thr)	NC_000005.9:g.70944989G>A	VUS	1 lab	cb4fc833f6
X:99662717 PCDH19 CG>C	X	99662717	99662720	CG	C	PCDH19	c.878del	NM_001184880.2	NP_001171809.1:p.(Pro293ArgfsTer12)	NC_000023.10:g.99662720del	(Likely) pathogenic	1 lab	cb50bfbb88
10:76790452 KAT6B G>A	10	76790452	76790452	G	A	KAT6B	c.5870G>A	NM_012330.4	NP_036462.2:p.(Arg1957Gln)	NC_000010.10:g.76790452G>A	VUS	1 lab	cb51e7eaf6
7:103194144 RELN T>C	7	103194144	103194144	T	C	RELN	c.5932A>G	NM_005045.4	NP_005036.2:p.(Ile1978Val)	NC_000007.13:g.103194144T>C	VUS	1 lab	cb544b21de
13:32912414 BRCA2 G>T	13	32912414	32912414	G	T	BRCA2	c.3922G>T	NM_000059.4	NP_000050.3:p.(Glu1308Ter)	NC_000013.10:g.32912414G>T	(Likely) pathogenic	1 lab	cb5c4d678b
16:89619414 SPG7 G>A	16	89619414	89619414	G	A	SPG7	c.1807G>A	NM_003119.4	NP_003110.1:p.(Ala603Thr)	NC_000016.9:g.89619414G>A	VUS	1 lab	cb6a2b8e95
19:51410171 KLK4 G>A	19	51410171	51410171	G	A	KLK4	c.*19C>T	NM_004917.4	NP_004908.4:p.?	NC_000019.9:g.51410171G>A	(Likely) benign	1 lab	cb6b1eee1c
19:17740105 UNC13A C>T	19	17740105	17740105	C	T	UNC13A	c.3697G>A	NM_001080421.3	NP_001073890.2:p.(Ala1233Thr)	NC_000019.9:g.17740105C>T	VUS	1 lab	cb6d7f37cb
1:155785578 GON4L CAACT>C	1	155785578	155785585	CAACT	C	GON4L	c.1161+14_1161+17del	NM_001282860.2	NP_001269789.1:p.?	NC_000001.10:g.155785582_155785585del	(Likely) benign	1 lab	cb6d985533
20:44054363 PIGT A>G	20	44054363	44054363	A	G	PIGT	c.1634A>G	NM_015937.6	NP_057021.2:p.(Asn545Ser)	NC_000020.10:g.44054363A>G	VUS	1 lab	cb6f7a5bd2
19:55527081 GP6 C>T	19	55527081	55527081	C	T	GP6	c.745G>A	NM_001083899.2	NP_001077368.2:p.(Ala249Thr)	NC_000019.9:g.55527081C>T	(Likely) benign	1 lab	cb6fd31fa0
20:31386449 DNMT3B T>C	20	31386449	31386449	T	C	DNMT3B	c.1674T>C	NM_006892.4	NP_008823.1:p.(Tyr558=)	NC_000020.10:g.31386449T>C	(Likely) benign	1 lab	cb7033ac39
1:237811787 RYR2 A>G	1	237811787	237811787	A	G	RYR2	c.7386A>G	NM_001035.3	NP_001026.2:p.(Pro2462=)	NC_000001.10:g.237811787A>G	(Likely) benign	1 lab	cb72732a33
3:48612248 COL7A1 AG>A	3	48612248	48612253	AG	A	COL7A1	c.6329del	NM_000094.4	NP_000085.1:p.(Pro2110LeufsTer96)	NC_000003.11:g.48612253del	(Likely) pathogenic	1 lab	cb74cc464a
4:154709955 SFRP2 G>GAGC	4	154709955	154709967	G	GAGC	SFRP2	c.30_32dup	NM_003013.3	NP_003004.1:p.(Leu11dup)	NC_000004.11:g.154709965_154709967dup	VUS	1 lab	cb7afe9e6f
13:32930563 BRCA2 A>T	13	32930563	32930563	A	T	BRCA2	c.7436-2A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930563A>T	(Likely) pathogenic	1 lab	cb809b045d
2:219755054 WNT10A T>G	2	219755054	219755054	T	G	WNT10A	c.725T>G	NM_025216.3	NP_079492.2:p.(Met242Arg)	NC_000002.11:g.219755054T>G	VUS	1 lab	cb81274197
2:179397629 TTN A>AG	2	179397629	179397630	A	AG	TTN	c.103712_103713insC	NM_001267550.2	NP_001254479.2:p.(Lys34572Ter)	NC_000002.11:g.179397629_179397630insG	(Likely) pathogenic	1 lab	cb81f4c5c0
11:74057837 PGM2L1 C>T	11	74057837	74057837	C	T	PGM2L1	c.977G>A	NM_173582.6	NP_775853.2:p.(Arg326Gln)	NC_000011.9:g.74057837C>T	VUS	1 lab	cb83d8bd2b
1:6266369 RNF207 A>G	1	6266369	6266369	A	G	RNF207	c.-1+7A>G	NM_207396.3	NP_997279.2:p.?	NC_000001.10:g.6266369A>G	(Likely) benign	1 lab	39ee517a42
8:30705099 TEX15 CTCTA>C	8	30705099	30705106	CTCTA	C	TEX15	c.2580_2583del	NM_001350162.2	NP_001337091.1:p.(Asp860GlufsTer15)	NC_000008.10:g.30705103_30705106del	(Likely) pathogenic	1 lab	cb8514f41a
6:169623399 THBS2 C>T	6	169623399	169623399	C	T	THBS2	c.2945G>A	NM_003247.5	NP_003238.2:p.(Arg982His)	NC_000006.11:g.169623399C>T	VUS	1 lab	cb855e8729
X:70460945 ZMYM3 G>A	X	70460945	70460945	G	A	ZMYM3	c.3934C>T	NM_201599.3	NP_963893.1:p.(Arg1312Trp)	NC_000023.10:g.70460945G>A	VUS	1 lab	cb86e17f50
20:485757 CSNK2A1 C>T	20	485757	485757	C	T	CSNK2A1	c.213+5G>A	NM_001895.4	NP_001886.1:p.?	NC_000020.10:g.485757C>T	VUS	1 lab	da01fb90f2
X:132160970 USP26 T>C	X	132160970	132160970	T	C	USP26	c.1279A>G	NM_031907.2	NP_114113.1:p.(Thr427Ala)	NC_000023.10:g.132160970T>C	VUS	1 lab	cb92d1dd3b
1:78272714 MIGA1 G>T	1	78272714	78272714	G	T	MIGA1	c.565G>T	NM_001270384.1	NP_001257313.1:p.(Asp189Tyr)	NC_000001.10:g.78272714G>T	VUS	1 lab	cb96fd478f
14:36159069 RALGAPA1 C>T	14	36159069	36159069	C	T	RALGAPA1	c.2407G>A	NM_014990.3	NP_055805.1:p.(Glu803Lys)	NC_000014.8:g.36159069C>T	VUS	1 lab	cb9fa81491
15:85383079 ALPK3 C>A	15	85383079	85383079	C	A	ALPK3	c.569C>A	NM_020778.5	NP_065829.4:p.(Ala190Glu)	NC_000015.9:g.85383079C>A	VUS	1 lab	cba1dd79d9
12:52938474 KRT71 C>T	12	52938474	52938474	C	T	KRT71	c.1414G>A	NM_033448.3	NP_258259.1:p.(Val472Ile)	NC_000012.11:g.52938474C>T	VUS	1 lab	cbb3286681
16:23649448 PALB2 TA>T	16	23649448	23649450	TA	T	PALB2	c.50del	NM_024675.4	NP_078951.2:p.(Leu17Ter)	NC_000016.9:g.23649450del	(Likely) pathogenic	1 lab	cbb4436539
22:26875323 HPS4 T>A	22	26875323	26875323	T	A	HPS4	c.42-2A>T	NM_022081.6	NP_071364.4:p.?	NC_000022.10:g.26875323T>A	(Likely) pathogenic	1 lab	cbb7aad0c5
10:105792027 COL17A1 C>T	10	105792027	105792027	C	T	COL17A1	c.4460G>A	NM_000494.4	NP_000485.3:p.(Arg1487Gln)	NC_000010.10:g.105792027C>T	VUS	1 lab	cbbc6b1b5d
15:99451920 IGF1R C>A	15	99451920	99451920	C	A	IGF1R	c.1254C>A	NM_000875.5	NP_000866.1:p.(Tyr418Ter)	NC_000015.9:g.99451920C>A	(Likely) pathogenic	1 lab	cbc032eaad
2:179399743 TTN G>C	2	179399743	179399743	G	C	TTN	c.93895C>G	NM_133378.4	NP_596869.4:p.(Leu31299Val)	NC_000002.11:g.179399743G>C	VUS	1 lab	cbc2010d7b
18:31324536 ASXL3 C>G	18	31324536	31324536	C	G	ASXL3	c.4724C>G	NM_030632.3	NP_085135.1:p.(Pro1575Arg)	NC_000018.9:g.31324536C>G	VUS	1 lab	cbc59ade2a
9:2039788 SMARCA2 GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA>G	9	2039788	2039825	GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA	G	SMARCA2	c.686_715del	NM_003070.5	NP_003061.3:p.(Gln229_Gln238del)	NC_000009.11:g.2039796_2039825del	VUS	1 lab	cbc88402ee
17:76440791 DNAH17 G>A	17	76440791	76440791	G	A	DNAH17	c.11423C>T	NM_173628.4	NP_775899.3:p.(Ala3808Val)	NC_000017.10:g.76440791G>A	VUS	1 lab	cbd053ad1b
2:145157705 ZEB2 G>A	2	145157705	145157705	G	A	ZEB2	c.1049C>T	NM_014795.4	NP_055610.1:p.(Thr350Met)	NC_000002.11:g.145157705G>A	VUS	1 lab	cbd0e431ea
5:155771600 SGCD G>C	5	155771600	155771600	G	C	SGCD	c.105G>C	NM_000337.6	NP_000328.2:p.(Leu35=)	NC_000005.9:g.155771600G>C	(Likely) benign	1 lab	cbd4639e8a
9:98270646 PTCH1 TGCCGCCGCC>T	9	98270646	98270669	TGCCGCCGCC	T	PTCH1	c.-12_-4del	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98270661_98270669del	VUS	1 lab	cbe2a84fd3
22:42564718 TCF20 G>C	22	42564718	42564718	G	C	TCF20	c.5824C>G	NM_005650.4	NP_005641.1:p.(Pro1942Ala)	NC_000022.10:g.42564718G>C	VUS	1 lab	cbe5a72ba7
1:45797125 MUTYH GGGCCCAGCCC>G	1	45797125	45797135	GGGCCCAGCCC	G	MUTYH	c.1280_1289del	NM_001128425.2	NP_001121897.1:p.(Trp427SerfsTer22)	NC_000001.10:g.45797126_45797135del	(Likely) pathogenic	1 lab	cbecac174a
18:32455266 DTNA C>T	18	32455266	32455266	C	T	DTNA	c.1726C>T	NM_001390.4	NP_001381.2:p.(Pro576Ser)	NC_000018.9:g.32455266C>T	VUS	1 lab	cbee62a466
9:2073292 SMARCA2 A>G	9	2073292	2073292	A	G	SMARCA2	c.1827A>G	NM_003070.5	NP_003061.3:p.(Pro609=)	NC_000009.11:g.2073292A>G	(Likely) benign	1 lab	cbf02226f1
8:145024748 PLEC C>T	8	145024748	145024748	C	T	PLEC	c.194-11888G>A	NM_000445.5	NP_000436.2:p.?	NC_000008.10:g.145024748C>T	VUS	1 lab	cbf0844a3d
2:189858172 COL3A1 C>A	2	189858172	189858172	C	A	COL3A1	c.1136C>A	NM_000090.4	NP_000081.2:p.(Ala379Asp)	NC_000002.11:g.189858172C>A	VUS	1 lab	cbf0d8500f
19:4101224 MAP2K2 T>C	19	4101224	4101224	T	C	MAP2K2	c.580+3A>G	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4101224T>C	(Likely) benign	1 lab	cbfd6b58cd
2:179647086 TTN T>C	2	179647086	179647086	T	C	TTN	c.3233A>G	NM_001267550.2	NP_001254479.2:p.(Glu1078Gly)	NC_000002.11:g.179647086T>C	VUS	1 lab	cbfef0587e
15:28474686 HERC2 G>C	15	28474686	28474686	G	C	HERC2	c.5040C>G	NM_004667.6	NP_004658.3:p.(Ser1680Arg)	NC_000015.9:g.28474686G>C	(Likely) benign	1 lab	cc01f374bb
1:237619934 RYR2 G>A	1	237619934	237619934	G	A	RYR2	c.1511G>A	NM_001035.3	NP_001026.2:p.(Arg504His)	NC_000001.10:g.237619934G>A	VUS	1 lab	cc1305a6d5
3:189584585 TP63 A>G	3	189584585	189584585	A	G	TP63	c.881A>G	NM_003722.5	NP_003713.3:p.(Gln294Arg)	NC_000003.11:g.189584585A>G	VUS	1 lab	cc17db4cd4
2:48010544 MSH6 A>C	2	48010544	48010544	A	C	MSH6	c.172A>C	NM_000179.3	NP_000170.1:p.(Arg58=)	NC_000002.11:g.48010544A>C	(Likely) benign	1 lab	cc1bac6d26
17:39969496 FKBP10 C>G	17	39969496	39969496	C	G	FKBP10	c.210C>G	NM_021939.4	NP_068758.3:p.(Asn70Lys)	NC_000017.10:g.39969496C>G	VUS	1 lab	cc1be07fcd
3:48621510 COL7A1 C>T	3	48621510	48621510	C	T	COL7A1	c.4198-16G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48621510C>T	(Likely) benign	1 lab	cc1be9ef87
6:133789778 EYA4 T>C	6	133789778	133789778	T	C	EYA4	c.879T>C	NM_004100.5	NP_004091.3:p.(Tyr293=)	NC_000006.11:g.133789778T>C	(Likely) benign	1 lab	cc1c0707dd
17:8280890 RPL26 G>A	17	8280890	8280890	G	A	RPL26	c.430C>T	NM_000987.5	NP_000978.1:p.(Gln144Ter)	NC_000017.10:g.8280890G>A	VUS	1 lab	cc1e53795e
8:103250839 RRM2B C>CG	8	103250839	103250840	C	CG	RRM2B	c.211dup	NM_001172477.1	NP_001165948.1:p.(Arg71ProfsTer28)	NC_000008.10:g.103250840dup	(Likely) benign	1 lab	cc220d497e
1:237670013 RYR2 G>A	1	237670013	237670013	G	A	RYR2	c.2617G>A	NM_001035.3	NP_001026.2:p.(Val873Met)	NC_000001.10:g.237670013G>A	VUS	1 lab	cc238561a0
5:1219733 SLC6A19 G>A	5	1219733	1219733	G	A	SLC6A19	c.1492G>A	NM_001003841.3	NP_001003841.1:p.(Ala498Thr)	NC_000005.9:g.1219733G>A	VUS	1 lab	cc28cb0965
3:41275329 CTNNB1 C>A	3	41275329	41275329	C	A	CTNNB1	c.1495C>A	NM_001904.4	NP_001895.1:p.(His499Asn)	NC_000003.11:g.41275329C>A	(Likely) benign	1 lab	cc2db955d0
20:3897602 PANK2 CGAG>C	20	3897602	3897605	CGAG	C	PANK2	c.569_571del	NM_001324191.2	NP_001311120.1:p.(Arg190_Glu191delinsGln)	NC_000020.10:g.3897603_3897605del	(Likely) pathogenic	1 lab	cc35b603ad
12:32994135 PKP2 CA>C	12	32994135	32994138	CA	C	PKP2	c.1514del	NM_004572.4	NP_004563.2:p.(Leu505CysfsTer15)	NC_000012.11:g.32994138del	(Likely) pathogenic	1 lab	cc381f78f6
16:31342608 ITGAM T>C	16	31342608	31342608	T	C	ITGAM	c.3390+12T>C	NM_001145808.2	NP_001139280.1:p.?	NC_000016.9:g.31342608T>C	(Likely) benign	1 lab	cc39f9a027
6:7575607 DSP ACT>A	6	7575607	7575612	ACT	A	DSP	c.2520_2521del	NM_004415.4	NP_004406.2:p.(Gln841AspfsTer9)	NC_000006.11:g.7575611_7575612del	(Likely) pathogenic	1 lab	cc3bc7904d
1:201333455 TNNT2 G>A	1	201333455	201333455	G	A	TNNT2	c.430C>T	NM_001276347.2	NP_001263276.1:p.(Arg144Trp)	NC_000001.10:g.201333455G>A	(Likely) pathogenic	1 lab	cc3d9ffaf7
5:11098738 CTNND2 C>A	5	11098738	11098738	C	A	CTNND2	c.2586G>T	NM_001332.4	NP_001323.1:p.(Thr862=)	NC_000005.9:g.11098738C>A	(Likely) benign	1 lab	cc4034664a
9:94486564 ROR2 G>T	9	94486564	94486564	G	T	ROR2	c.2212C>A	NM_004560.4	NP_004551.2:p.(Arg738Ser)	NC_000009.11:g.94486564G>T	VUS	1 lab	cc452331e4
2:96952833 SNRNP200 A>G	2	96952833	96952833	A	G	SNRNP200	c.3550T>C	NM_014014.5	NP_054733.2:p.(Leu1184=)	NC_000002.11:g.96952833A>G	(Likely) benign	1 lab	cc48a72ead
17:39659529 KRT13 T>C	17	39659529	39659529	T	C	KRT13	c.735+10A>G	NM_153490.3	NP_705694.3:p.?	NC_000017.10:g.39659529T>C	(Likely) benign	1 lab	cc496860de
3:12626050 RAF1 C>T	3	12626050	12626050	C	T	RAF1	c.1910G>A	NM_002880.4	NP_002871.1:p.(Cys637Tyr)	NC_000003.11:g.12626050C>T	VUS	1 lab	cc4d4a84c8
17:48653472 CACNA1G C>T	17	48653472	48653472	C	T	CACNA1G	c.1709C>T	NM_018896.5	NP_061496.2:p.(Ala570Val)	NC_000017.10:g.48653472C>T	VUS	1 lab	cc4e614e61
1:27023220 ARID1A C>T	1	27023220	27023220	C	T	ARID1A	c.326C>T	NM_006015.6	NP_006006.3:p.(Pro109Leu)	NC_000001.10:g.27023220C>T	VUS	1 lab	cc58c6fa4b
22:19867771 TXNRD2 C>T	22	19867771	19867771	C	T	TXNRD2	c.1206G>A	NM_006440.5	NP_006431.2:p.(Pro402=)	NC_000022.10:g.19867771C>T	(Likely) benign	1 lab	cc59459ebf
6:100964147 ASCC3 G>C	6	100964147	100964147	G	C	ASCC3	c.5984C>G	NM_006828.4	NP_006819.2:p.(Ser1995Cys)	NC_000006.11:g.100964147G>C	(Likely) benign	1 lab	cc63be4cf5
2:179582004 TTN T>G	2	179582004	179582004	T	G	TTN	c.25457A>C	NM_001267550.2	NP_001254479.2:p.(Lys8486Thr)	NC_000002.11:g.179582004T>G	VUS	1 lab	cc67f04962
13:111160498 COL4A2 G>A	13	111160498	111160498	G	A	COL4A2	c.4811G>A	NM_001846.4	NP_001837.2:p.(Ser1604Asn)	NC_000013.10:g.111160498G>A	VUS	1 lab	cc682e40ac
7:141952110 PRSS58 G>A	7	141952110	141952110	G	A	PRSS58	c.657=	NM_001001317.5	NP_001001317.1:p.(Ala219=)	NC_000007.13:g.141952110G>A	(Likely) benign	1 lab	cc6bf2249a
7:37890267 NME8 G>A	7	37890267	37890267	G	A	NME8	c.128G>A	NM_016616.5	NP_057700.3:p.(Arg43Lys)	NC_000007.13:g.37890267G>A	(Likely) benign	1 lab	cc6d7083d1
10:73115942 SLC29A3 G>A	10	73115942	73115942	G	A	SLC29A3	c.715G>A	NM_001174098.2	NP_001167569.1:p.(Val239Ile)	NC_000010.10:g.73115942G>A	(Likely) benign	1 lab	cc6e09c263
13:32907118 BRCA2 CAA>C	13	32907118	32907123	CAA	C	BRCA2	c.1507_1508del	NM_000059.4	NP_000050.3:p.(Lys503ValfsTer10)	NC_000013.10:g.32907122_32907123del	(Likely) pathogenic	1 lab	cc7a12679f
X:41393958 CASK C>T	X	41393958	41393958	C	T	CASK	c.2302+1G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41393958C>T	(Likely) pathogenic	1 lab	cc7b779c3f
10:73492079 CDH23 A>G	10	73492079	73492079	A	G	CDH23	c.4051A>G	NM_022124.6	NP_071407.4:p.(Asn1351Asp)	NC_000010.10:g.73492079A>G	(Likely) benign	1 lab	fee039ee10
2:74691720 MOGS ATG>A	2	74691720	74691725	ATG	A	MOGS	c.480_481del	NM_006302.3	NP_006293.2:p.(Ile161ProfsTer10)	NC_000002.11:g.74691724_74691725del	(Likely) pathogenic	1 lab	cc8ab9bb36
6:56420346 DST G>A	6	56420346	56420346	G	A	DST	c.8576C>T	NM_001144769.5	NP_001138241.1:p.(Thr2859Met)	NC_000006.11:g.56420346G>A	VUS	1 lab	cc8d13b29c
16:10032411 GRIN2A G>A	16	10032411	10032411	G	A	GRIN2A	c.415-3C>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.10032411G>A	(Likely) benign	1 lab	cc8d956095
6:7231595 RREB1 A>G	6	7231595	7231595	A	G	RREB1	c.3263A>G	NM_001003699.4	NP_001003699.1:p.(Asp1088Gly)	NC_000006.11:g.7231595A>G	VUS	1 lab	cc8e0b9a22
1:236902765 ACTN2 C>T	1	236902765	236902765	C	T	ACTN2	c.1040C>T	NM_001103.4	NP_001094.1:p.(Thr347Met)	NC_000001.10:g.236902765C>T	VUS	1 lab	cc928b6fe1
14:102391506 PPP2R5C C>T	14	102391506	102391506	C	T	PPP2R5C	c.1565C>T	NM_001161725.2	NP_001155197.1:p.(Pro522Leu)	NC_000014.8:g.102391506C>T	VUS	1 lab	cc94cb8b85
X:70360588 MED12 GAGC>G	X	70360588	70360607	GAGC	G	MED12	c.6165_6167del	NM_005120.3	NP_005111.2:p.(Gln2076del)	NC_000023.10:g.70360605_70360607del	VUS	1 lab	cc96c495fe
1:154698441 KCNN3 G>A	1	154698441	154698441	G	A	KCNN3	c.1652C>T	NM_002249.6	NP_002240.3:p.(Ala551Val)	NC_000001.10:g.154698441G>A	VUS	1 lab	cc9d7ffc10
2:48059600 FBXO11 G>C	2	48059600	48059600	G	C	FBXO11	c.1286C>G	NM_001190274.2	NP_001177203.1:p.(Ser429Cys)	NC_000002.11:g.48059600G>C	VUS	1 lab	cc9fd7179f
19:38945851 RYR1 T>C	19	38945851	38945851	T	C	RYR1	c.1441-24T>C	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38945851T>C	(Likely) benign	1 lab	34b2f121ca
8:61749572 CHD7 G>GT	8	61749572	61749573	G	GT	CHD7	c.4185+2dup	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61749573dup	(Likely) pathogenic	1 lab	ccad0a9ab8
1:237947500 RYR2 C>A	1	237947500	237947500	C	A	RYR2	c.12488C>A	NM_001035.3	NP_001026.2:p.(Pro4163His)	NC_000001.10:g.237947500C>A	VUS	1 lab	ccaed06600
X:49113925 FOXP3 G>A	X	49113925	49113925	G	A	FOXP3	c.413C>T	NM_014009.4	NP_054728.2:p.(Thr138Ile)	NC_000023.10:g.49113925G>A	VUS	1 lab	ccb03a0103
18:21331010 LAMA3 C>G	18	21331010	21331010	C	G	LAMA3	c.813C>G	NM_198129.4	NP_937762.2:p.(His271Gln)	NC_000018.9:g.21331010C>G	VUS	1 lab	ccb07eeec0
22:50297435 ALG12 T>C	22	50297435	50297435	T	C	ALG12	c.*51A>G	NM_024105.4	NP_077010.1:p.?	NC_000022.10:g.50297435T>C	(Likely) benign	1 lab	ccb31a5f35
1:116311198 CASQ2 T>C	1	116311198	116311198	T	C	CASQ2	c.-36A>G	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116311198T>C	(Likely) benign	1 lab	ccb4c2cea7
11:108175510 ATM T>C	11	108175510	108175510	T	C	ATM	c.5605T>C	NM_000051.4	NP_000042.3:p.(Phe1869Leu)	NC_000011.9:g.108175510T>C	VUS	1 lab	ccbac47845
8:144991645 PLEC C>G	8	144991645	144991645	C	G	PLEC	c.12755G>C	NM_201380.4	NP_958782.1:p.(Gly4252Ala)	NC_000008.10:g.144991645C>G	VUS	1 lab	ccbcb26c3b
5:147480044 SPINK5 G>A	5	147480044	147480044	G	A	SPINK5	c.1120G>A	NM_006846.4	NP_006837.2:p.(Val374Met)	NC_000005.9:g.147480044G>A	VUS	1 lab	ccc53a1c09
19:11114030 SMARCA4 C>T	19	11114030	11114030	C	T	SMARCA4	c.1958C>T	NM_001128849.3	NP_001122321.1:p.(Pro653Leu)	NC_000019.9:g.11114030C>T	VUS	1 lab	cccdb661e8
19:51856505 ETFB C>T	19	51856505	51856505	C	T	ETFB	c.256G>A	NM_001985.3	NP_001976.1:p.(Gly86Ser)	NC_000019.9:g.51856505C>T	VUS	1 lab	ccce6b14fc
2:179632777 TTN C>T	2	179632777	179632777	C	T	TTN	c.9269G>A	NM_001267550.2	NP_001254479.2:p.(Trp3090Ter)	NC_000002.11:g.179632777C>T	(Likely) pathogenic	1 lab	ccd01fdec2
7:114299492 FOXP2 G>A	7	114299492	114299492	G	A	FOXP2	c.1545+5G>A	NM_014491.4	NP_055306.1:p.?	NC_000007.13:g.114299492G>A	VUS	1 lab	ccdea3f312
1:209811896 LAMB3 C>T	1	209811896	209811896	C	T	LAMB3	c.281G>A	NM_001017402.2	NP_001017402.1:p.(Trp94Ter)	NC_000001.10:g.209811896C>T	(Likely) pathogenic	1 lab	cce1103000
19:50827178 KCNC3 C>A	19	50827178	50827178	C	A	KCNC3	c.1032G>T	NM_004977.3	NP_004968.2:p.(Thr344=)	NC_000019.9:g.50827178C>A	(Likely) benign	1 lab	ccee4afb19
3:64142957 PRICKLE2 C>T	3	64142957	64142957	C	T	PRICKLE2	c.481G>A	NM_198859.4	NP_942559.1:p.(Val161Ile)	NC_000003.11:g.64142957C>T	VUS	1 lab	ccf4b64df6
5:171766227 SH3PXD2B C>A	5	171766227	171766227	C	A	SH3PXD2B	c.1882G>T	NM_001017995.3	NP_001017995.1:p.(Asp628Tyr)	NC_000005.9:g.171766227C>A	VUS	1 lab	cd01935218
18:67718784 RTTN T>C	18	67718784	67718784	T	C	RTTN	c.5186A>G	NM_173630.4	NP_775901.3:p.(Asp1729Gly)	NC_000018.9:g.67718784T>C	VUS	1 lab	cd01a8ff05
12:103246610 PAH G>A	12	103246610	103246610	G	A	PAH	c.825C>T	NM_000277.3	NP_000268.1:p.(Pro275=)	NC_000012.11:g.103246610G>A	(Likely) benign	1 lab	cd08dac0a1
4:169611851 PALLD G>A	4	169611851	169611851	G	A	PALLD	c.1433G>A	NM_016081.4	NP_057165.3:p.(Gly478Glu)	NC_000004.11:g.169611851G>A	(Likely) benign	1 lab	cd0bc1b7e3
7:103202365 RELN T>C	7	103202365	103202365	T	C	RELN	c.5246A>G	NM_005045.4	NP_005036.2:p.(Asn1749Ser)	NC_000007.13:g.103202365T>C	VUS	1 lab	cd149569b9
15:85370800 ALPK3 G>C	15	85370800	85370800	G	C	ALPK3	c.268G>C	NM_020778.5	NP_065829.4:p.(Glu90Gln)	NC_000015.9:g.85370800G>C	VUS	1 lab	cd1538e79b
14:102504876 DYNC1H1 C>T	14	102504876	102504876	C	T	DYNC1H1	c.10988C>T	NM_001376.5	NP_001367.2:p.(Thr3663Ile)	NC_000014.8:g.102504876C>T	VUS	1 lab	cd17116f4b
2:219526620 BCS1L G>A	2	219526620	219526620	G	A	BCS1L	c.599G>A	NM_004328.5	NP_004319.1:p.(Arg200Gln)	NC_000002.11:g.219526620G>A	VUS	1 lab	cd19376008
2:109369930 RANBP2 A>G	2	109369930	109369930	A	G	RANBP2	c.1966A>G	NM_006267.5	NP_006258.3:p.(Ile656Val)	NC_000002.11:g.109369930A>G	(Likely) pathogenic	1 lab	cd22f1f69c
9:138649211 KCNT1 C>T	9	138649211	138649211	C	T	KCNT1	c.743C>T	NM_020822.3	NP_065873.2:p.(Ala248Val)	NC_000009.11:g.138649211C>T	VUS	1 lab	cd237aab63
1:103548433 COL11A1 T>C	1	103548433	103548433	T	C	COL11A1	c.202A>G	NM_001854.4	NP_001845.3:p.(Lys68Glu)	NC_000001.10:g.103548433T>C	VUS	1 lab	cd252e9060
17:62479069 POLG2 A>C	17	62479069	62479069	A	C	POLG2	c.1158T>G	NM_007215.4	NP_009146.2:p.(Asp386Glu)	NC_000017.10:g.62479069A>C	(Likely) benign	1 lab	cd282c5ffb
12:100219150 ANKS1B T>C	12	100219150	100219150	T	C	ANKS1B	c.152A>G	NM_152788.4	NP_690001.3:p.(Asn51Ser)	NC_000012.11:g.100219150T>C	VUS	1 lab	cd35d66ef0
4:1348901 UVSSA G>A	4	1348901	1348901	G	A	UVSSA	c.1048-4G>A	NM_020894.4	NP_065945.2:p.?	NC_000004.11:g.1348901G>A	(Likely) benign	1 lab	cd3a2e4c6a
12:110029057 MVK C>A	12	110029057	110029057	C	A	MVK	c.780C>A	NM_000431.2	NP_000422.1:p.(Ile260=)	NC_000012.11:g.110029057C>A	(Likely) benign	1 lab	33909ab1f1
13:103288746 TPP2 A>G	13	103288746	103288746	A	G	TPP2	c.1678+4A>G	NM_001330588.2	NP_001317517.1:p.?	NC_000013.10:g.103288746A>G	(Likely) benign	1 lab	3392fbd93b
2:71795157 DYSF A>C	2	71795157	71795157	A	C	DYSF	c.2639A>C	NM_001130981.2	NP_001124453.1:p.(Asp880Ala)	NC_000002.11:g.71795157A>C	(Likely) benign	1 lab	33ab8b70bf
8:48813044 PRKDC A>G	8	48813044	48813044	A	G	PRKDC	c.3270-17T>C	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48813044A>G	(Likely) benign	1 lab	33b27f9395
9:138670717 KCNT1 C>A	9	138670717	138670717	C	A	KCNT1	c.2729+49C>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138670717C>A	(Likely) benign	1 lab	33b64ae729
12:32976991 PKP2 C>G	12	32976991	32976991	C	G	PKP2	c.1794G>C	NM_004572.3	NP_004563.2:p.(Gln598His)	NC_000012.11:g.32976991C>G	VUS	1 lab	33b734d69a
11:62472827 BSCL2 TAGA>T	11	62472827	62472832	TAGA	T	BSCL2	c.155_157del	NM_032667.6	NP_116056.3:p.(Phe52del)	NC_000011.9:g.62472830_62472832del	VUS	1 lab	cd4107a6d8
17:41215969 BRCA1 C>T	17	41215969	41215969	C	T	BRCA1	c.5075-1G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215969C>T	(Likely) pathogenic	1 lab	33bd4e3099
9:108397324 FKTN T>C	9	108397324	108397324	T	C	FKTN	c.777-8T>C	NM_001351502.2	NP_001338431.1:p.?	NC_000009.11:g.108397324T>C	(Likely) benign	1 lab	33bd7fa6c5
6:51612884 PKHD1 A>G	6	51612884	51612884	A	G	PKHD1	c.9530T>C	NM_138694.4	NP_619639.3:p.(Ile3177Thr)	NC_000006.11:g.51612884A>G	(Likely) pathogenic	1 lab	33c0f7a48b
20:8702977 PLCB1 T>C	20	8702977	8702977	T	C	PLCB1	c.1514-24T>C	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8702977T>C	(Likely) benign	1 lab	340a852867
1:150049795 VPS45 G>T	1	150049795	150049795	G	T	VPS45	c.625G>T	NM_007259.4	NP_009190.2:p.(Val209Phe)	NC_000001.10:g.150049795G>T	(Likely) benign	1 lab	340ad5c57c
11:64507518 RASGRP2 G>A	11	64507518	64507518	G	A	RASGRP2	c.489C>T	NM_153819.1	NP_722541.1:p.(Thr163=)	NC_000011.9:g.64507518G>A	(Likely) benign	1 lab	340beec081
16:85952133 IRF8 G>A	16	85952133	85952133	G	A	IRF8	c.712G>A	NM_002163.2	NP_002154.1:p.(Gly238Ser)	NC_000016.9:g.85952133G>A	(Likely) benign	1 lab	340e6ad7be
19:15640669 CYP4F22 G>A	19	15640669	15640669	G	A	CYP4F22	c.367+5G>A	NM_173483.4	NP_775754.2:p.?	NC_000019.9:g.15640669G>A	(Likely) benign	1 lab	340f806e1a
9:131395571 SPTAN1 G>C	9	131395571	131395571	G	C	SPTAN1	c.7392G>C	NM_001130438.2	NP_001123910.1:p.(Ala2464=)	NC_000009.11:g.131395571G>C	(Likely) benign	1 lab	34138e83f4
4:79447763 FRAS1 T>C	4	79447763	79447763	T	C	FRAS1	c.10877T>C	NM_025074.7	NP_079350.5:p.(Val3626Ala)	NC_000004.11:g.79447763T>C	(Likely) benign	1 lab	341938aab9
8:100708982 VPS13B C>T	8	100708982	100708982	C	T	VPS13B	c.6122-2771C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100708982C>T	(Likely) benign	1 lab	34317e6816
2:152737452 CACNB4 T>C	2	152737452	152737452	T	C	CACNB4	c.166-16A>G	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152737452T>C	(Likely) benign	1 lab	3431dc0652
14:65246011 SPTB A>G	14	65246011	65246011	A	G	SPTB	c.4474-47T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65246011A>G	(Likely) benign	1 lab	34387ae777
12:102142869 GNPTAB T>A	12	102142869	102142869	T	A	GNPTAB	c.3693+10A>T	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102142869T>A	(Likely) benign	1 lab	34478e6bcc
2:169792942 ABCB11 G>A	2	169792942	169792942	G	A	ABCB11	c.2612C>T	NM_003742.4	NP_003733.2:p.(Ala871Val)	NC_000002.11:g.169792942G>A	VUS	1 lab	3460506bc6
22:36714303 MYH9 C>T	22	36714303	36714303	C	T	MYH9	c.1176G>A	NM_002473.5	NP_002464.1:p.(Pro392=)	NC_000022.10:g.36714303C>T	(Likely) benign	1 lab	3460701a33
11:60229958 MS4A1 G>C	11	60229958	60229958	G	C	MS4A1	c.111G>C	NM_152866.2	NP_690605.1:p.(Leu37=)	NC_000011.9:g.60229958G>C	(Likely) benign	1 lab	34669bd036
3:3182352 TRNT1 C>A	3	3182352	3182352	C	A	TRNT1	c.481+20C>A	NM_182916.3	NP_886552.3:p.?	NC_000003.11:g.3182352C>A	(Likely) benign	1 lab	346975bf0d
13:23928989 SACS T>C	13	23928989	23928989	T	C	SACS	c.1762A>G	NM_014363.6	NP_055178.3:p.(Lys588Glu)	NC_000013.10:g.23928989T>C	VUS	1 lab	346ce4f60e
2:166234015 SCN2A T>C	2	166234015	166234015	T	C	SCN2A	c.4255-92T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166234015T>C	(Likely) benign	1 lab	346de50e02
1:214832176 CENPF A>AT	1	214832176	214832184	A	AT	CENPF	c.8963-9dup	NM_016343.4	NP_057427.3:p.?	NC_000001.10:g.214832184dup	(Likely) benign	1 lab	347107a170
16:3705383 DNASE1 C>T	16	3705383	3705383	C	T	DNASE1	c.9C>T	NM_005223.3	NP_005214.2:p.(Gly3=)	NC_000016.9:g.3705383C>T	(Likely) benign	1 lab	3471a26948
2:24432793 ITSN2 T>C	2	24432793	24432793	T	C	ITSN2	c.4325A>G	NM_001348181.2	NP_001335110.1:p.(Asn1442Ser)	NC_000002.11:g.24432793T>C	(Likely) benign	1 lab	3476e54cb8
6:33660654 ITPR3 G>A	6	33660654	33660654	G	A	ITPR3	c.7608G>A	NM_002224.3	NP_002215.2:p.(Thr2536=)	NC_000006.11:g.33660654G>A	(Likely) benign	1 lab	347802232c
X:119664114 CUL4B C>A	X	119664114	119664114	C	A	CUL4B	c.2494-5G>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119664114C>A	(Likely) benign	1 lab	348257c3a4
22:32160864 DEPDC5 A>G	22	32160864	32160864	A	G	DEPDC5	c.194-97A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32160864A>G	(Likely) benign	1 lab	348893e025
17:7606671 WRAP53 C>T	17	7606671	7606671	C	T	WRAP53	c.1514C>T	NM_018081.2	NP_060551.2:p.(Thr505Met)	NC_000017.10:g.7606671C>T	(Likely) benign	1 lab	348ca3605c
18:19378030 MIB1 A>AT	18	19378030	19378037	A	AT	MIB1	c.1093-8dup	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19378037dup	(Likely) benign	1 lab	34920363d7
X:70325963 CXorf65 G>A	X	70325963	70325963	G	A	CXorf65	c.137C>T	NM_001025265.3	NP_001020436.1:p.(Thr46Met)	NC_000023.10:g.70325963G>A	(Likely) benign	1 lab	34d78ef090
15:93492451 CHD2 A>G	15	93492451	93492451	A	G	CHD2	c.1502+145A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93492451A>G	(Likely) benign	1 lab	349473525c
12:6442921 TNFRSF1A A>G	12	6442921	6442921	A	G	TNFRSF1A	c.304T>C	NM_001065.3	NP_001056.1:p.(Cys102Arg)	NC_000012.11:g.6442921A>G	(Likely) pathogenic	1 lab	3495459191
11:118916364 HYOU1 G>A	11	118916364	118916364	G	A	HYOU1	c.2941C>T	NM_006389.5	NP_006380.1:p.(Pro981Ser)	NC_000011.9:g.118916364G>A	(Likely) benign	1 lab	3495fd5350
22:17669218 ADA2 C>T	22	17669218	17669218	C	T	ADA2	c.1081+11G>A	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17669218C>T	(Likely) benign	1 lab	349676a169
11:834522 CD151 C>T	11	834522	834522	C	T	CD151	c.-69-8C>T	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.834522C>T	(Likely) benign	1 lab	349b19c351
17:48244932 SGCA G>A	17	48244932	48244932	G	A	SGCA	c.158-11G>A	NM_000023.2	NP_000014.1:p.?	NC_000017.10:g.48244932G>A	(Likely) benign	1 lab	349e4fdb74
12:53447242 TNS2 G>A	12	53447242	53447242	G	A	TNS2	c.291+9G>A	NM_015319.2	NP_056134.2:p.?	NC_000012.11:g.53447242G>A	(Likely) benign	1 lab	34a10f0eda
12:110019232 MVK C>T	12	110019232	110019232	C	T	MVK	c.404C>T	NM_000431.2	NP_000422.1:p.(Ser135Leu)	NC_000012.11:g.110019232C>T	(Likely) pathogenic	1 lab	34a41db780
5:67589663 PIK3R1 G>A	5	67589663	67589663	G	A	PIK3R1	c.1425+1G>A	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67589663G>A	(Likely) pathogenic	1 lab	34a48946b2
2:179443847 TTN G>GAGAT	2	179443847	179443853	G	GAGAT	TTN	c.41086_41089dup	NM_133432.3	NP_597676.3:p.(Ser13697TyrfsTer19)	NC_000002.11:g.179443850_179443853dup	(Likely) pathogenic	1 lab	34a67ff40c
20:3063322 AVP G>GCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGT	20	3063322	3063372	G	GCCAGCTGCACCAGCCGCAGCAGCAAGGCCCCGGCCGGCCCGT	AVP	c.407_448dup	NM_000490.4	NP_000481.2:p.(Asp136_Leu149dup)	NC_000020.10:g.3063331_3063372dup	VUS	1 lab	34aa6ff25a
X:23754111 ACOT9 G>A	X	23754111	23754111	G	A	ACOT9	c.43C>T	NM_001037171.2	NP_001032248.1:p.(Gln15Ter)	NC_000023.10:g.23754111G>A	(Likely) benign	1 lab	34ab7064e8
13:36239339 NBEA T>G	13	36239339	36239339	T	G	NBEA	c.8401+16T>G	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.36239339T>G	(Likely) benign	1 lab	34ab9101d0
9:109687274 ZNF462 G>T	9	109687274	109687274	G	T	ZNF462	c.1081G>T	NM_021224.6	NP_067047.4:p.(Glu361Ter)	NC_000009.11:g.109687274G>T	(Likely) pathogenic	1 lab	cd4644edcc
5:169494558 DOCK2 G>A	5	169494558	169494558	G	A	DOCK2	c.4512G>A	NM_004946.3	NP_004937.1:p.(Thr1504=)	NC_000005.9:g.169494558G>A	(Likely) benign	1 lab	34af73e909
9:124088961 GSN G>A	9	124088961	124088961	G	A	GSN	c.1740+1G>A	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124088961G>A	VUS	1 lab	cd4d8305e5
17:61566444 ACE C>T	17	61566444	61566444	C	T	ACE	c.2592C>T	NM_000789.4	NP_000780.1:p.(Tyr864=)	NC_000017.10:g.61566444C>T	(Likely) benign	1 lab	34bf3b7540
17:43535751 PLEKHM1 G>T	17	43535751	43535751	G	T	PLEKHM1	c.1363C>A	NM_014798.3	NP_055613.1:p.(Pro455Thr)	NC_000017.10:g.43535751G>T	(Likely) benign	1 lab	34c82acd2f
11:47370081 MYBPC3 G>A	11	47370081	47370081	G	A	MYBPC3	c.666C>T	NM_000256.3	NP_000247.2:p.(Phe222=)	NC_000011.9:g.47370081G>A	(Likely) benign	1 lab	34c8520466
12:52307381 ACVRL1 C>T	12	52307381	52307381	C	T	ACVRL1	c.352C>T	NM_000020.2	NP_000011.2:p.(Gln118Ter)	NC_000012.11:g.52307381C>T	(Likely) pathogenic	1 lab	34cc5ea70a
16:53682874 RPGRIP1L A>G	16	53682874	53682874	A	G	RPGRIP1L	c.2304+2T>C	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53682874A>G	(Likely) pathogenic	1 lab	34d058fae2
7:30704677 CRHR2 A>G	7	30704677	30704677	A	G	CRHR2	c.501+9T>C	NM_001202481.1	NP_001189410.1:p.?	NC_000007.13:g.30704677A>G	(Likely) benign	1 lab	34d0b20ac9
1:158656369 SPTA1 T>G	1	158656369	158656369	T	G	SPTA1	c.-62A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656369T>G	(Likely) benign	1 lab	34d41606a2
8:102678859 GRHL2 G>C	8	102678859	102678859	G	C	GRHL2	c.1806G>C	NM_024915.4	NP_079191.2:p.(Ser602=)	NC_000008.10:g.102678859G>C	(Likely) benign	1 lab	34d6f47fd3
X:40460185 ATP6AP2 A>T	X	40460185	40460185	A	T	ATP6AP2	c.858+52A>T	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40460185A>T	(Likely) benign	1 lab	34e8338dac
7:91863783 KRIT1 TGC>T	7	91863783	91863785	TGC	T	KRIT1	c.967_968del	NM_194454.3	NP_919436.1:p.(Ala323ThrfsTer12)	NC_000007.13:g.91863784_91863785del	(Likely) pathogenic	1 lab	34ea5dced1
2:216259450 FN1 AAAAAG>A	2	216259450	216259460	AAAAAG	A	FN1	c.3605-13_3605-9del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216259456_216259460del	(Likely) benign	1 lab	34eb1d91ad
8:100396564 VPS13B A>T	8	100396564	100396564	A	T	VPS13B	c.2934+19A>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100396564A>T	(Likely) benign	1 lab	34f29aeed1
7:74193478 NCF1 G>A	7	74193478	74193478	G	A	NCF1	c.204G>A	NM_000265.6	NP_000256.4:p.(Glu68=)	NC_000007.13:g.74193478G>A	(Likely) benign	1 lab	34f5aaf5c4
16:3304479 MEFV C>G	16	3304479	3304479	C	G	MEFV	c.589G>C	NM_000243.2	NP_000234.1:p.(Gly197Arg)	NC_000016.9:g.3304479C>G	VUS	1 lab	34f6b61b82
17:46021853 PNPO C>T	17	46021853	46021853	C	T	PNPO	c.264-129C>T	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46021853C>T	(Likely) benign	1 lab	34f7a863dd
12:6442516 TNFRSF1A A>G	12	6442516	6442516	A	G	TNFRSF1A	c.472+17T>C	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442516A>G	(Likely) benign	1 lab	34f7b9c514
5:39311358 C9 T>C	5	39311358	39311358	T	C	C9	c.992A>G	NM_001737.3	NP_001728.1:p.(Glu331Gly)	NC_000005.9:g.39311358T>C	(Likely) benign	1 lab	350ee5495c
16:56914011 SLC12A3 C>T	16	56914011	56914011	C	T	SLC12A3	c.1444-31C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56914011C>T	(Likely) benign	1 lab	3514ed9454
16:81116576 GCSH C>G	16	81116576	81116576	C	G	GCSH	c.425-8G>C	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81116576C>G	(Likely) benign	1 lab	351542cf06
6:32021469 TNXB C>T	6	32021469	32021469	C	T	TNXB	c.8481G>A	NM_019105.8	NP_061978.6:p.(Glu2827=)	NC_000006.11:g.32021469C>T	(Likely) benign	1 lab	3516b2cfe0
1:6272078 RNF207 G>A	1	6272078	6272078	G	A	RNF207	c.1261G>A	NM_207396.3	NP_997279.2:p.(Ala421Thr)	NC_000001.10:g.6272078G>A	(Likely) benign	1 lab	35a2f98913
1:156838353 NTRK1 G>A	1	156838353	156838353	G	A	NTRK1	c.631G>A	NM_002529.3	NP_002520.2:p.(Val211Met)	NC_000001.10:g.156838353G>A	(Likely) benign	1 lab	351815a95a
X:154130398 F8 A>G	X	154130398	154130398	A	G	F8	c.6043T>C	NM_000132.3	NP_000123.1:p.(Trp2015Arg)	NC_000023.10:g.154130398A>G	VUS	1 lab	351bddc526
22:23915507 IGLL1 G>A	22	23915507	23915507	G	A	IGLL1				NC_000022.10:g.23915507G>A	(Likely) benign	1 lab	35202459bd
4:88583809 DMP1 T>C	4	88583809	88583809	T	C	DMP1	c.879T>C	NM_004407.4	NP_004398.1:p.(Ser293=)	NC_000004.11:g.88583809T>C	(Likely) benign	1 lab	35256ec8f7
8:75262841 GDAP1 G>A	8	75262841	75262841	G	A	GDAP1	c.117+28G>A	NM_018972.2	NP_061845.2:p.?	NC_000008.10:g.75262841G>A	(Likely) benign	1 lab	3527a6b06a
1:120266004 PHGDH C>G	1	120266004	120266004	C	G	PHGDH	c.296C>G	NM_006623.4	NP_006614.2:p.(Pro99Arg)	NC_000001.10:g.120266004C>G	(Likely) benign	1 lab	3552e49a7b
15:35084374 ACTC1 T>C	15	35084374	35084374	T	C	ACTC1	c.725A>G	NM_005159.4	NP_005150.1:p.(Tyr242Cys)	NC_000015.9:g.35084374T>C	(Likely) pathogenic	1 lab	35557f5584
X:114424633 RBMXL3 G>A	X	114424633	114424633	G	A	RBMXL3	c.629G>A	NM_001145346.2	NP_001138818.1:p.(Arg210Gln)	NC_000023.10:g.114424633G>A	(Likely) benign	1 lab	3555996b8f
2:189927881 COL5A2 T>C	2	189927881	189927881	T	C	COL5A2	c.1869+17A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189927881T>C	(Likely) benign	1 lab	3559c9cd16
1:158631203 SPTA1 C>G	1	158631203	158631203	C	G	SPTA1	c.2465-4G>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158631203C>G	(Likely) benign	1 lab	355bae76f0
5:76012066 F2R G>C	5	76012066	76012066	G	C	F2R	c.-67G>C	NM_001992.5	NP_001983.2:p.?	NC_000005.9:g.76012066G>C	VUS	1 lab	355dfdd52d
1:1956887 GABRD C>G	1	1956887	1956887	C	G	GABRD	c.249+47C>G	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1956887C>G	(Likely) benign	1 lab	3560860f2c
12:56750026 STAT2 G>A	12	56750026	56750026	G	A	STAT2	c.175C>T	NM_005419.4	NP_005410.1:p.(Leu59=)	NC_000012.11:g.56750026G>A	(Likely) benign	1 lab	3563357a9b
8:144997998 PLEC C>T	8	144997998	144997998	C	T	PLEC	c.6510G>A	NM_201380.4	NP_958782.1:p.(Ala2170=)	NC_000008.10:g.144997998C>T	(Likely) benign	1 lab	3568cb314d
1:235892970 LYST A>G	1	235892970	235892970	A	G	LYST	c.9045-13T>C	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235892970A>G	(Likely) benign	1 lab	357097315a
9:14775917 FREM1 T>A	9	14775917	14775917	T	A	FREM1	c.4727A>T	NM_144966.5	NP_659403.4:p.(Asn1576Ile)	NC_000009.11:g.14775917T>A	(Likely) benign	1 lab	357509e4e6
4:15516333 CC2D2A G>A	4	15516333	15516333	G	A	CC2D2A	c.721G>A	NM_001080522.2	NP_001073991.2:p.(Glu241Lys)	NC_000004.11:g.15516333G>A	(Likely) benign	1 lab	357a21fc8f
2:109524319 EDAR G>A	2	109524319	109524319	G	A	EDAR	c.960C>T	NM_022336.4	NP_071731.1:p.(Ala320=)	NC_000002.11:g.109524319G>A	(Likely) benign	1 lab	357b35a58d
2:227912248 COL4A4 C>T	2	227912248	227912248	C	T	COL4A4	c.3232G>A	NM_000092.4	NP_000083.3:p.(Ala1078Thr)	NC_000002.11:g.227912248C>T	(Likely) benign	1 lab	3586d4d53b
19:55449406 NLRP7 A>G	19	55449406	55449406	A	G	NLRP7	c.2129+6T>C	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55449406A>G	(Likely) benign	1 lab	3587914186
17:73727352 ITGB4 G>C	17	73727352	73727352	G	C	ITGB4	c.1118G>C	NM_000213.5	NP_000204.3:p.(Arg373Pro)	NC_000017.10:g.73727352G>C	VUS	1 lab	35966da94e
22:17662766 ADA2 A>G	22	17662766	17662766	A	G	ADA2	c.1386T>C	NM_001282225.2	NP_001269154.1:p.(Ile462=)	NC_000022.10:g.17662766A>G	(Likely) benign	1 lab	359ae94550
21:35140007 ITSN1 G>A	21	35140007	35140007	G	A	ITSN1	c.927-10G>A	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35140007G>A	(Likely) benign	1 lab	359b6f2388
12:12037526 ETV6 A>G	12	12037526	12037526	A	G	ETV6	c.1152+5A>G	NM_001987.4	NP_001978.1:p.?	NC_000012.11:g.12037526A>G	(Likely) benign	1 lab	359cde8ed8
1:247588781 NLRP3 T>C	1	247588781	247588781	T	C	NLRP3	c.2030T>C	NM_001243133.2	NP_001230062.1:p.(Leu677Pro)	NC_000001.10:g.247588781T>C	VUS	1 lab	359ee286db
1:100680485 DBT A>C	1	100680485	100680485	A	C	DBT	c.827T>G	NM_001918.3	NP_001909.3:p.(Phe276Cys)	NC_000001.10:g.100680485A>C	(Likely) pathogenic	1 lab	35a49fc562
12:987416 WNK1 A>C	12	987416	987416	A	C	WNK1	c.3501A>C	NM_001184985.1	NP_001171914.1:p.(Thr1167=)	NC_000012.11:g.987416A>C	(Likely) benign	1 lab	35a4ff9dca
2:166915162 SCN1A G>A	2	166915162	166915162	G	A	SCN1A	c.301C>T	NM_001165963.3	NP_001159435.1:p.(Arg101Trp)	NC_000002.11:g.166915162G>A	(Likely) pathogenic	1 lab	35af9deb43
4:79373520 FRAS1 A>G	4	79373520	79373520	A	G	FRAS1	c.6763+12A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79373520A>G	(Likely) benign	1 lab	35b0ca8045
19:16238279 RAB8A C>T	19	16238279	16238279	C	T	RAB8A	c.357C>T	NM_005370.5	NP_005361.2:p.(Leu119=)	NC_000019.9:g.16238279C>T	VUS	1 lab	35b6073e7b
1:247588116 NLRP3 C>T	1	247588116	247588116	C	T	NLRP3	c.1371C>T	NM_004895.4	NP_004886.3:p.(Ser457=)	NC_000001.10:g.247588116C>T	(Likely) benign	1 lab	35b9d58765
17:78075462 GAA G>C	17	78075462	78075462	G	C	GAA	c.-260G>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78075462G>C	(Likely) benign	1 lab	35c2e79f52
X:47435719 SYN1 C>T	X	47435719	47435719	C	T	SYN1	c.1055+12G>A	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47435719C>T	(Likely) benign	1 lab	35ccdba2ef
3:188426196 LPP G>A	3	188426196	188426196	G	A	LPP	c.1240+15G>A	NM_005578.5	NP_005569.1:p.?	NC_000003.11:g.188426196G>A	(Likely) benign	1 lab	35cf05e865
9:130616565 ENG T>C	9	130616565	130616565	T	C	ENG	c.67+3A>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130616565T>C	(Likely) pathogenic	1 lab	35dc78c63c
2:74690022 MOGS G>A	2	74690022	74690022	G	A	MOGS	c.894C>T	NM_006302.3	NP_006293.2:p.(Leu298=)	NC_000002.11:g.74690022G>A	(Likely) benign	1 lab	35ddb4afd8
15:93485878 CHD2 T>TG	15	93485878	93485880	T	TG	CHD2	c.827-193dup	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93485880dup	(Likely) benign	1 lab	35df3591dc
5:492197 SLC9A3 AGGGAGGGAGGTCAGGGCCGGGCTGTGAGGGAG>A	5	492197	492272	AGGGAGGGAGGTCAGGGCCGGGCTGTGAGGGAG	A	SLC9A3	c.212-43_212-12del	NM_004174.4	NP_004165.2:p.?	NC_000005.9:g.492241_492272del	(Likely) benign	1 lab	35e1de93f1
1:6530372 PLEKHG5 G>A	1	6530372	6530372	G	A	PLEKHG5	c.1955C>T	NM_198681.3	NP_941374.2:p.(Pro652Leu)	NC_000001.10:g.6530372G>A	(Likely) benign	1 lab	35f8a5d289
1:158597309 SPTA1 A>G	1	158597309	158597309	A	G	SPTA1	c.5664+106T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158597309A>G	(Likely) benign	1 lab	35fefa4f8f
16:3722816 TRAP1 C>T	16	3722816	3722816	C	T	TRAP1	c.1050G>A	NM_016292.3	NP_057376.2:p.(Pro350=)	NC_000016.9:g.3722816C>T	(Likely) benign	1 lab	36001c1d43
15:93524539 CHD2 T>C	15	93524539	93524539	T	C	CHD2	c.2974-56T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93524539T>C	(Likely) benign	1 lab	36021d8d9b
3:30713883 TGFBR2 G>A	3	30713883	30713883	G	A	TGFBR2	c.1283G>A	NM_001024847.2	NP_001020018.1:p.(Arg428His)	NC_000003.11:g.30713883G>A	(Likely) benign	1 lab	360c284500
19:39205121 ACTN4 G>A	19	39205121	39205121	G	A	ACTN4	c.832G>A	NM_004924.6	NP_004915.2:p.(Ala278Thr)	NC_000019.9:g.39205121G>A	VUS	1 lab	36111aedfd
8:1719770 CLN8 G>A	8	1719770	1719770	G	A	CLN8	c.543+7G>A	NM_018941.3	NP_061764.2:p.?	NC_000008.10:g.1719770G>A	(Likely) benign	1 lab	3616a082a3
10:100195383 HPS1 T>C	10	100195383	100195383	T	C	HPS1	c.255+9A>G	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100195383T>C	(Likely) benign	1 lab	361d1d5311
1:198717348 PTPRC A>AT	1	198717348	198717354	A	AT	PTPRC	c.2938+26dup	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198717354dup	(Likely) benign	1 lab	361e78985f
1:247593000 NLRP3 G>C	1	247593000	247593000	G	C	NLRP3	c.2264G>C	NM_001243133.2	NP_001230062.1:p.(Gly755Ala)	NC_000001.10:g.247593000G>C	(Likely) pathogenic	1 lab	361f92f772
4:178363520 AGA T>G	4	178363520	178363520	T	G	AGA	c.10A>C	NM_000027.4	NP_000018.2:p.(Lys4Gln)	NC_000004.11:g.178363520T>G	(Likely) benign	1 lab	362a208d02
5:89979485 ADGRV1 C>T	5	89979485	89979485	C	T	ADGRV1	c.5747C>T	NM_032119.4	NP_115495.3:p.(Thr1916Ile)	NC_000005.9:g.89979485C>T	(Likely) benign	1 lab	362f1d22d5
11:2407084 CD81 G>GT	11	2407084	2407085	G	GT	CD81	c.67-4557dup	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2407085dup	(Likely) benign	1 lab	36301e7ee6
16:75674253 KARS1 A>T	16	75674253	75674253	A	T	KARS1	c.307-6T>A	NM_001130089.1	NP_001123561.1:p.?	NC_000016.9:g.75674253A>T	(Likely) benign	1 lab	364599833d
15:40584661 PLCB2 G>A	15	40584661	40584661	G	A	PLCB2	c.2327-17C>T	NM_004573.3	NP_004564.2:p.?	NC_000015.9:g.40584661G>A	(Likely) benign	1 lab	3647fd22e3
9:130588837 ENG C>G	9	130588837	130588837	C	G	ENG	c.475G>C	NM_000118.3	NP_000109.1:p.(Ala159Pro)	NC_000009.11:g.130588837C>G	VUS	1 lab	364e9059c6
16:20344643 UMOD A>G	16	20344643	20344643	A	G	UMOD	c.1916T>C	NM_003361.3	NP_003352.2:p.(Phe639Ser)	NC_000016.9:g.20344643A>G	(Likely) benign	1 lab	364ee3d4a5
17:40842240 CNTNAP1 T>C	17	40842240	40842240	T	C	CNTNAP1	c.1855+15T>C	NM_003632.3	NP_003623.1:p.?	NC_000017.10:g.40842240T>C	(Likely) benign	1 lab	36516f585f
1:160085604 ATP1A2 C>G	1	160085604	160085604	C	G	ATP1A2				NC_000001.10:g.160085604C>G	(Likely) benign	1 lab	3652a10531
12:1005504 WNK1 A>G	12	1005504	1005504	A	G	WNK1	c.6631A>G	NM_001184985.1	NP_001171914.1:p.(Thr2211Ala)	NC_000012.11:g.1005504A>G	(Likely) benign	1 lab	3653f8274e
18:47455980 MYO5B G>GAA	18	47455980	47455996	G	GAA	MYO5B	c.2004-14_2004-13dup	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47455995_47455996dup	(Likely) benign	1 lab	3654639382
12:49424798 KMT2D G>C	12	49424798	49424798	G	C	KMT2D	c.13549C>G	NM_003482.4	NP_003473.3:p.(Pro4517Ala)	NC_000012.11:g.49424798G>C	(Likely) benign	1 lab	cd5492bce3
8:103226392 RRM2B A>G	8	103226392	103226392	A	G	RRM2B	c.685-6T>C	NM_015713.4	NP_056528.2:p.?	NC_000008.10:g.103226392A>G	(Likely) benign	1 lab	365a6e735d
15:35087692 ACTC1 C>A	15	35087692	35087692	C	A	ACTC1	c.-23+15G>T	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35087692C>A	(Likely) benign	1 lab	365af0c3de
14:105156092 INF2 C>A	14	105156092	105156092	C	A	INF2	c.-10+16C>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105156092C>A	(Likely) benign	1 lab	36b6e0e14c
19:7132314 INSR G>A	19	7132314	7132314	G	A	INSR	c.2697C>T	NM_000208.4	NP_000199.2:p.(Cys899=)	NC_000019.9:g.7132314G>A	(Likely) benign	1 lab	366208664b
X:32360270 DMD G>A	X	32360270	32360270	G	A	DMD	c.5500C>T	NM_004010.3	NP_004001.1:p.(Arg1834Trp)	NC_000023.10:g.32360270G>A	VUS	1 lab	3666c7f32b
9:14746846 FREM1 G>A	9	14746846	14746846	G	A	FREM1	c.6138+75C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14746846G>A	(Likely) benign	1 lab	36676fcab5
5:77524004 AP3B1 T>G	5	77524004	77524004	T	G	AP3B1	c.339A>C	NM_003664.4	NP_003655.3:p.(Ala113=)	NC_000005.9:g.77524004T>G	(Likely) benign	1 lab	3667cd55d1
1:95492814 ALG14 A>G	1	95492814	95492814	A	G	ALG14	c.291T>C	NM_144988.4	NP_659425.1:p.(Tyr97=)	NC_000001.10:g.95492814A>G	(Likely) benign	1 lab	36682bf0d5
7:74197388 NCF1 A>G	7	74197388	74197388	A	G	NCF1	c.558A>G	NM_000265.6	NP_000256.4:p.(Val186=)	NC_000007.13:g.74197388A>G	(Likely) benign	1 lab	36740cad38
4:95376504 PDLIM5 A>G	4	95376504	95376504	A	G	PDLIM5	c.65A>G	NM_001256426.1	NP_001243355.1:p.(Lys22Arg)	NC_000004.11:g.95376504A>G	(Likely) benign	1 lab	36752dc04e
1:78392497 NEXN C>T	1	78392497	78392497	C	T	NEXN	c.784C>T	NM_144573.3	NP_653174.3:p.(Arg262Ter)	NC_000001.10:g.78392497C>T	VUS	1 lab	367af7f9c6
22:32200255 DEPDC5 G>C	22	32200255	32200255	G	C	DEPDC5	c.1143+46G>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32200255G>C	(Likely) benign	1 lab	367c5aeb04
16:10788294 TEKT5 G>A	16	10788294	10788294	G	A	TEKT5	c.437C>T	NM_144674.2	NP_653275.1:p.(Ser146Leu)	NC_000016.9:g.10788294G>A	(Likely) benign	1 lab	367e1421d8
X:66941686 AR A>T	X	66941686	66941686	A	T	AR	c.2330A>T	NM_000044.6	NP_000035.2:p.(His777Leu)	NC_000023.10:g.66941686A>T	(Likely) pathogenic	1 lab	3686eb57bb
3:25656928 TOP2B A>G	3	25656928	25656928	A	G	TOP2B	c.3486T>C	NM_001068.3	NP_001059.2:p.(Asp1162=)	NC_000003.11:g.25656928A>G	(Likely) benign	1 lab	368c4f0dcc
X:154212988 F8 T>G	X	154212988	154212988	T	G	F8	c.761A>C	NM_000132.3	NP_000123.1:p.(Asn254Thr)	NC_000023.10:g.154212988T>G	(Likely) pathogenic	1 lab	368e104703
17:59760776 BRIP1 C>T	17	59760776	59760776	C	T	BRIP1	c.3631G>A	NM_032043.2	NP_114432.2:p.(Gly1211Ser)	NC_000017.10:g.59760776C>T	(Likely) benign	1 lab	3692d0204d
18:59757754 PIGN T>C	18	59757754	59757754	T	C	PIGN	c.2238A>G	NM_176787.4	NP_789744.1:p.(Ile746Met)	NC_000018.9:g.59757754T>C	(Likely) benign	1 lab	369423f8ae
20:8709832 PLCB1 G>A	20	8709832	8709832	G	A	PLCB1	c.1888+11G>A	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8709832G>A	(Likely) benign	1 lab	3696cb430f
6:18122535 NHLRC1 C>A	6	18122535	18122535	C	A	NHLRC1	c.303G>T	NM_198586.3	NP_940988.2:p.(Pro101=)	NC_000006.11:g.18122535C>A	(Likely) benign	1 lab	36a7417de1
17:39920998 JUP G>A	17	39920998	39920998	G	A	JUP	c.1125C>T	NM_002230.2	NP_002221.1:p.(Thr375=)	NC_000017.10:g.39920998G>A	(Likely) benign	1 lab	36aba6f2be
17:27068477 NEK8 A>C	17	27068477	27068477	A	C	NEK8	c.1938A>C	NM_178170.3	NP_835464.1:p.(Gly646=)	NC_000017.10:g.27068477A>C	(Likely) benign	1 lab	36af70678a
X:99924408 SRPX2 T>G	X	99924408	99924408	T	G	SRPX2	c.1217+42T>G	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99924408T>G	(Likely) benign	1 lab	36b310fc94
7:83037703 SEMA3E G>A	7	83037703	83037703	G	A	SEMA3E	c.651C>T	NM_012431.3	NP_036563.1:p.(Asp217=)	NC_000007.13:g.83037703G>A	(Likely) benign	1 lab	36b4448449
1:203054651 MYOG G>A	1	203054651	203054651	G	A	MYOG	c.439C>T	NM_002479.6	NP_002470.2:p.(Arg147Cys)	NC_000001.10:g.203054651G>A	(Likely) benign	1 lab	36dd6d742b
12:54928993 NCKAP1L GA>G	12	54928993	54928996	GA	G	NCKAP1L	c.2956+15del	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54928996del	(Likely) benign	1 lab	36e0033b7f
17:73826252 UNC13D T>A	17	73826252	73826252	T	A	UNC13D	c.2831-20A>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73826252T>A	(Likely) benign	1 lab	36e7a1be42
7:91726242 AKAP9 C>T	7	91726242	91726242	C	T	AKAP9	c.9969C>T	NM_005751.4	NP_005742.4:p.(His3323=)	NC_000007.13:g.91726242C>T	(Likely) benign	1 lab	36ef08a5fd
4:79294025 FRAS1 AGGCCCTGCTCTGTGCT>A	4	79294025	79294041	AGGCCCTGCTCTGTGCT	A	FRAS1	c.3010+14_3010+29del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79294026_79294041del	(Likely) benign	1 lab	36f097be4f
X:32328400 DMD T>A	X	32328400	32328400	T	A	DMD	c.5554-7A>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32328400T>A	(Likely) benign	1 lab	36f87b79cc
5:121405741 LOX CACTT>C	5	121405741	121405747	CACTT	C	LOX	c.1247+3_1247+6del	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121405744_121405747del	VUS	1 lab	36f99738c4
9:77367162 TRPM6 CT>C	9	77367162	77367172	CT	C	TRPM6	c.4998+30del	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77367172del	(Likely) benign	1 lab	36faf24be4
1:183532445 NCF2 G>C	1	183532445	183532445	G	C	NCF2	c.1179-4C>G	NM_001127651.3	NP_001121123.1:p.?	NC_000001.10:g.183532445G>C	(Likely) benign	1 lab	36fb80bcb0
12:49434914 KMT2D G>A	12	49434914	49434914	G	A	KMT2D	c.6639C>T	NM_003482.3	NP_003473.3:p.(Gly2213=)	NC_000012.11:g.49434914G>A	(Likely) benign	1 lab	36fcb2066e
16:3304487 MEFV A>G	16	3304487	3304487	A	G	MEFV	c.581T>C	NM_000243.2	NP_000234.1:p.(Leu194Pro)	NC_000016.9:g.3304487A>G	VUS	1 lab	36fe73d3b2
5:79029763 CMYA5 G>T	5	79029763	79029763	G	T	CMYA5	c.5175G>T	NM_153610.5	NP_705838.3:p.(Ser1725=)	NC_000005.9:g.79029763G>T	(Likely) benign	1 lab	370099ac26
1:247588853 NLRP3 T>C	1	247588853	247588853	T	C	NLRP3	c.2102T>C	NM_001243133.2	NP_001230062.1:p.(Met701Thr)	NC_000001.10:g.247588853T>C	VUS	1 lab	3703b518ef
6:3085629 RIPK1 G>C	6	3085629	3085629	G	C	RIPK1	c.825G>C	NM_003804.6	NP_003795.2:p.(Arg275=)	NC_000006.11:g.3085629G>C	(Likely) benign	1 lab	3704841983
X:100653950 RPL36A-HNRNPH2 T>C	X	100653950	100653950	T	C	RPL36A-HNRNPH2	c.300+3505T>C	NM_001199973.2	NP_001186902.2:p.?	NC_000023.10:g.100653950T>C	(Likely) benign	1 lab	370dbc1efe
4:187519116 FAT1 A>T	4	187519116	187519116	A	T	FAT1	c.12257+10T>A	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187519116A>T	(Likely) benign	1 lab	37101b0bb5
1:114377006 PTPN22 A>G	1	114377006	114377006	A	G	PTPN22	c.1950T>C	NM_015967.6	NP_057051.3:p.(Ile650=)	NC_000001.10:g.114377006A>G	(Likely) benign	1 lab	3712fb5372
5:79028327 CMYA5 G>A	5	79028327	79028327	G	A	CMYA5	c.3739G>A	NM_153610.5	NP_705838.3:p.(Val1247Ile)	NC_000005.9:g.79028327G>A	(Likely) benign	1 lab	37148c1714
15:57896498 GCOM1 C>T	15	57896498	57896498	C	T	GCOM1	c.107C>T	NM_001285900.3	NP_001272829.1:p.(Pro36Leu)	NC_000015.9:g.57896498C>T	VUS	1 lab	371693484b
5:161494852 GABRG2 C>T	5	161494852	161494852	C	T	GABRG2				NC_000005.9:g.161494852C>T	(Likely) benign	1 lab	37182eba64
22:32164790 DEPDC5 C>T	22	32164790	32164790	C	T	DEPDC5	c.364-10C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32164790C>T	(Likely) benign	1 lab	371ee65ab2
6:32053848 TNXB A>G	6	32053848	32053848	A	G	TNXB	c.2827T>C	NM_019105.8	NP_061978.6:p.(Ser943Pro)	NC_000006.11:g.32053848A>G	VUS	1 lab	371fd07918
11:14516004 COPB1 T>TAAA	11	14516004	14516012	T	TAAA	COPB1	c.92-22_92-20dup	NM_016451.4	NP_057535.1:p.?	NC_000011.9:g.14516010_14516012dup	(Likely) benign	1 lab	3725ee9b8e
2:166239057 SCN2A A>C	2	166239057	166239057	A	C	SCN2A	c.4551+1350A>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166239057A>C	(Likely) benign	1 lab	372ab73a68
12:110017764 MVK T>C	12	110017764	110017764	T	C	MVK	c.371+13T>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017764T>C	(Likely) benign	1 lab	372c92d011
4:103533631 NFKB1 G>C	4	103533631	103533631	G	C	NFKB1	c.2460G>C	NM_003998.4	NP_003989.2:p.(Leu820=)	NC_000004.11:g.103533631G>C	(Likely) benign	1 lab	372cfb35c7
2:228172553 COL4A3 T>C	2	228172553	228172553	T	C	COL4A3	c.4380T>C	NM_000091.4	NP_000082.2:p.(Cys1460=)	NC_000002.11:g.228172553T>C	(Likely) benign	1 lab	372d2f712b
X:18616436 CDKL5 CT>C	X	18616436	18616447	CT	C	CDKL5	c.826-135del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18616447del	(Likely) benign	1 lab	372f13e41c
12:56101081 ITGA7 G>C	12	56101081	56101081	G	C	ITGA7	c.206+180C>G	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56101081G>C	(Likely) benign	1 lab	37cfc9db55
20:30662449 HCK G>A	20	30662449	30662449	G	A	HCK	c.293G>A	NM_001172132.2	NP_001165603.1:p.(Arg98Gln)	NC_000020.10:g.30662449G>A	(Likely) benign	1 lab	3743e49faf
3:167413379 PDCD10 C>G	3	167413379	167413379	C	G	PDCD10	c.395+5G>C	NM_007217.4	NP_009148.2:p.?	NC_000003.11:g.167413379C>G	(Likely) pathogenic	1 lab	374ca0c327
5:168199772 SLIT3 C>T	5	168199772	168199772	C	T	SLIT3	c.1459+14G>A	NM_003062.3	NP_003053.1:p.?	NC_000005.9:g.168199772C>T	(Likely) benign	1 lab	374d17ccdb
8:68396226 CPA6 A>G	8	68396226	68396226	A	G	CPA6	c.748-133T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68396226A>G	(Likely) benign	1 lab	374dea873f
16:56226174 GNAO1 G>A	16	56226174	56226174	G	A	GNAO1	c.27G>A	NM_020988.3	NP_066268.1:p.(Glu9=)	NC_000016.9:g.56226174G>A	(Likely) benign	1 lab	374e904c65
11:118901448 SLC37A4 G>T	11	118901448	118901448	G	T	SLC37A4	c.-699-3C>A	NM_001164277.1	NP_001157749.1:p.?	NC_000011.9:g.118901448G>T	VUS	1 lab	3753c42529
9:138651688 KCNT1 G>A	9	138651688	138651688	G	A	KCNT1	c.1018G>A	NM_020822.2	NP_065873.2:p.(Val340Met)	NC_000009.11:g.138651688G>A	(Likely) benign	1 lab	375728de6c
2:167060988 SCN9A C>A	2	167060988	167060988	C	A	SCN9A	c.4366-14G>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060988C>A	(Likely) benign	1 lab	3757396d00
5:14678803 OTULIN C>T	5	14678803	14678803	C	T	OTULIN	c.243C>T	NM_138348.6	NP_612357.4:p.(Ser81=)	NC_000005.9:g.14678803C>T	(Likely) benign	1 lab	3759b15ba9
21:34635178 IFNAR2 C>A	21	34635178	34635178	C	A	IFNAR2	c.921C>A	NM_001289125.3	NP_001276054.1:p.(Ile307=)	NC_000021.8:g.34635178C>A	(Likely) benign	1 lab	3774714624
13:32899183 BRCA2 C>A	13	32899183	32899183	C	A	BRCA2	c.317-30C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899183C>A	(Likely) benign	1 lab	3774a0f0f8
1:161514759 FCGR3A C>A	1	161514759	161514759	C	A	FCGR3A	c.635-11G>T	NM_000569.7	NP_000560.6:p.?	NC_000001.10:g.161514759C>A	(Likely) benign	1 lab	377c065059
10:115412815 NRAP A>C	10	115412815	115412815	A	C	NRAP	c.466-17T>G	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115412815A>C	VUS	1 lab	377dc8fa96
16:9934670 GRIN2A CAA>C	16	9934670	9934690	CAA	C	GRIN2A	c.1498-15_1498-14del	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9934689_9934690del	(Likely) benign	1 lab	3783f7f7ad
20:30414621 MYLK2 C>T	20	30414621	30414621	C	T	MYLK2	c.1104C>T	NM_033118.3	NP_149109.1:p.(Phe368=)	NC_000020.10:g.30414621C>T	(Likely) benign	1 lab	3789c4281c
1:150053389 VPS45 T>C	1	150053389	150053389	T	C	VPS45	c.688-35T>C	NM_007259.4	NP_009190.2:p.?	NC_000001.10:g.150053389T>C	(Likely) benign	1 lab	378c3aace0
19:10478772 TYK2 G>A	19	10478772	10478772	G	A	TYK2	c.424C>T	NM_003331.4	NP_003322.3:p.(Gln142Ter)	NC_000019.9:g.10478772G>A	(Likely) pathogenic	1 lab	3792b7a82a
1:29438843 EPB41 T>G	1	29438843	29438843	T	G	EPB41	c.1588-37T>G	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29438843T>G	VUS	1 lab	379488b775
4:187628819 FAT1 C>T	4	187628819	187628819	C	T	FAT1	c.2163G>A	NM_005245.4	NP_005236.2:p.(Pro721=)	NC_000004.11:g.187628819C>T	(Likely) benign	1 lab	37b7c16441
12:111078220 TCTN1 G>A	12	111078220	111078220	G	A	TCTN1	c.876G>A	NM_001082538.3	NP_001076007.1:p.(Gln292=)	NC_000012.11:g.111078220G>A	(Likely) benign	1 lab	37bbb97c94
22:37318309 CSF2RB C>A	22	37318309	37318309	C	A	CSF2RB	c.60C>A	NM_000395.3	NP_000386.1:p.(Ser20Arg)	NC_000022.10:g.37318309C>A	(Likely) benign	1 lab	37bebbc6f1
4:151520169 LRBA G>A	4	151520169	151520169	G	A	LRBA	c.6036C>T	NM_001199282.2	NP_001186211.2:p.(Ala2012=)	NC_000004.11:g.151520169G>A	(Likely) benign	1 lab	37c43e6f73
18:28667786 DSC2 G>A	18	28667786	28667786	G	A	DSC2	c.631-10C>T	NM_004949.3	NP_004940.1:p.?	NC_000018.9:g.28667786G>A	(Likely) benign	1 lab	37c88ba4a2
4:6590835 MAN2B2 A>T	4	6590835	6590835	A	T	MAN2B2	c.628A>T	NM_015274.3	NP_056089.1:p.(Ile210Phe)	NC_000004.11:g.6590835A>T	(Likely) benign	1 lab	37cac3f16d
14:45433640 TOGARAM1 C>T	14	45433640	45433640	C	T	TOGARAM1	c.2016C>T	NM_001308120.2	NP_001295049.1:p.(Asn672=)	NC_000014.8:g.45433640C>T	(Likely) benign	1 lab	37cbaaec23
7:50468238 IKZF1 G>A	7	50468238	50468238	G	A	IKZF1	c.1347G>A	NM_001220765.3	NP_001207694.1:p.(Glu449=)	NC_000007.13:g.50468238G>A	(Likely) benign	1 lab	37ce513b17
6:32798026 TAP2 T>C	6	32798026	32798026	T	C	TAP2	c.1635+18A>G	NM_000544.3	NP_000535.3:p.?	NC_000006.11:g.32798026T>C	(Likely) benign	1 lab	37d27c7c1c
8:61757795 CHD7 G>T	8	61757795	61757795	G	T	CHD7				NC_000008.10:g.61757795G>T	(Likely) benign	1 lab	40e7098704
22:51117861 SHANK3 G>T	22	51117861	51117861	G	T	SHANK3	c.1110+5G>T	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51117861G>T	(Likely) benign	1 lab	37d67b8b51
12:22063211 ABCC9 C>T	12	22063211	22063211	C	T	ABCC9	c.1200G>A	NM_020297.2	NP_064693.2:p.(Thr400=)	NC_000012.11:g.22063211C>T	(Likely) benign	1 lab	37d72c0edc
16:1254478 CACNA1H C>T	16	1254478	1254478	C	T	CACNA1H	c.2451+20C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1254478C>T	(Likely) benign	1 lab	37de7587e0
11:77090939 PAK1 C>T	11	77090939	77090939	C	T	PAK1	c.291G>A	NM_001128620.1	NP_001122092.1:p.(Thr97=)	NC_000011.9:g.77090939C>T	(Likely) benign	1 lab	37e04da293
12:58193593 AVIL G>T	12	58193593	58193593	G	T	AVIL	c.2331C>A	NM_006576.3	NP_006567.3:p.(Asn777Lys)	NC_000012.11:g.58193593G>T	(Likely) benign	1 lab	37e0633eee
X:136651160 ZIC3 C>G	X	136651160	136651160	C	G	ZIC3	c.1160C>G	NM_003413.4	NP_003404.1:p.(Pro387Arg)	NC_000023.10:g.136651160C>G	VUS	1 lab	37eae4e37e
22:40816955 MRTFA G>A	22	40816955	40816955	G	A	MRTFA	c.1077C>T	NM_020831.6	NP_065882.2:p.(Tyr359=)	NC_000022.10:g.40816955G>A	(Likely) benign	1 lab	37ecdf3aae
7:151292523 PRKAG2 T>C	7	151292523	151292523	T	C	PRKAG2	c.772A>G	NM_016203.4	NP_057287.2:p.(Ser258Gly)	NC_000007.13:g.151292523T>C	VUS	1 lab	37efbb329d
10:96066164 PLCE1 T>A	10	96066164	96066164	T	A	PLCE1	c.5623-20T>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96066164T>A	(Likely) benign	1 lab	37f42ed635
15:76576103 ETFA G>C	15	76576103	76576103	G	C	ETFA	c.728C>G	NM_000126.4	NP_000117.1:p.(Ala243Gly)	NC_000015.9:g.76576103G>C	VUS	1 lab	37f7b023d0
2:165953815 SCN3A C>T	2	165953815	165953815	C	T	SCN3A	c.4186G>A	NM_006922.4	NP_008853.3:p.(Val1396Met)	NC_000002.11:g.165953815C>T	VUS	1 lab	37face61bb
11:64572548 MEN1 C>T	11	64572548	64572548	C	T	MEN1	c.1323G>A	NM_130803.2	NP_570715.1:p.(Trp441Ter)	NC_000011.9:g.64572548C>T	(Likely) pathogenic	1 lab	37fbff348b
5:39341812 C9 A>G	5	39341812	39341812	A	G	C9	c.184-10T>C	NM_001737.3	NP_001728.1:p.?	NC_000005.9:g.39341812A>G	(Likely) benign	1 lab	37fe0530ea
15:25657995 UBE3A T>C	15	25657995	25657995	T	C	UBE3A	c.-220-877A>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25657995T>C	(Likely) benign	1 lab	39bad7fb21
3:123356950 MYLK G>A	3	123356950	123356950	G	A	MYLK	c.4929C>T	NM_053025.3	NP_444253.3:p.(Asp1643=)	NC_000003.11:g.123356950G>A	(Likely) benign	1 lab	3813850f1d
16:50118575 HEATR3 C>G	16	50118575	50118575	C	G	HEATR3	c.1373+13C>G	NM_182922.4	NP_891552.1:p.?	NC_000016.9:g.50118575C>G	(Likely) benign	1 lab	381703cd29
5:112178309 APC A>C	5	112178309	112178309	A	C	APC				NC_000005.9:g.112178309A>C	VUS	1 lab	38171c65e5
1:11090820 MASP2 T>G	1	11090820	11090820	T	G	MASP2	c.1207A>C	NM_006610.4	NP_006601.2:p.(Met403Leu)	NC_000001.10:g.11090820T>G	(Likely) benign	1 lab	381a1a4fc3
15:42111543 MAPKBP1 G>T	15	42111543	42111543	G	T	MAPKBP1	c.2409G>T	NM_001128608.2	NP_001122080.1:p.(Leu803=)	NC_000015.9:g.42111543G>T	(Likely) benign	1 lab	381dcac273
16:53674989 RPGRIP1L C>T	16	53674989	53674989	C	T	RPGRIP1L	c.2914G>A	NM_015272.5	NP_056087.2:p.(Asp972Asn)	NC_000016.9:g.53674989C>T	(Likely) benign	1 lab	3829e75829
3:123419495 MYLK C>A	3	123419495	123419495	C	A	MYLK	c.2820G>T	NM_053025.3	NP_444253.3:p.(Glu940Asp)	NC_000003.11:g.123419495C>A	VUS	1 lab	382a6d1ec9
19:11556233 PRKCSH G>A	19	11556233	11556233	G	A	PRKCSH	c.628G>A	NM_001289103.1	NP_001276032.1:p.(Glu210Lys)	NC_000019.9:g.11556233G>A	(Likely) benign	1 lab	382b62e9a5
1:228461095 OBSCN G>A	1	228461095	228461095	G	A	OBSCN	c.6109G>A	NM_001271223.2	NP_001258152.2:p.(Asp2037Asn)	NC_000001.10:g.228461095G>A	(Likely) benign	1 lab	383327d2a8
7:83014658 SEMA3E C>T	7	83014658	83014658	C	T	SEMA3E	c.1827G>A	NM_012431.3	NP_036563.1:p.(Ala609=)	NC_000007.13:g.83014658C>T	(Likely) benign	1 lab	38389f0dd6
5:11565044 CTNND2 C>T	5	11565044	11565044	C	T	CTNND2	c.287+12G>A	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11565044C>T	(Likely) benign	1 lab	383ae97eef
12:54911443 NCKAP1L G>T	12	54911443	54911443	G	T	NCKAP1L	c.1205+17G>T	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54911443G>T	(Likely) benign	1 lab	38408ecee2
4:6611544 MAN2B2 T>C	4	6611544	6611544	T	C	MAN2B2	c.2026T>C	NM_015274.3	NP_056089.1:p.(Tyr676His)	NC_000004.11:g.6611544T>C	(Likely) benign	1 lab	38412afe2b
8:11407723 BLK A>G	8	11407723	11407723	A	G	BLK	c.424A>G	NM_001715.3	NP_001706.2:p.(Ile142Val)	NC_000008.10:g.11407723A>G	(Likely) benign	1 lab	384da17326
7:154002421 DPP6 A>AT	7	154002421	154002422	A	AT	DPP6	n.178_179insT	NR_157196.2		NC_000007.13:g.154002421_154002422insT	(Likely) benign	1 lab	3852e32021
14:102449610 DYNC1H1 T>C	14	102449610	102449610	T	C	DYNC1H1	c.1216T>C	NM_001376.4	NP_001367.2:p.(Tyr406His)	NC_000014.8:g.102449610T>C	VUS	1 lab	3858555e49
X:100911047 ARMCX2 T>A	X	100911047	100911047	T	A	ARMCX2	c.1528A>T	NM_177949.4	NP_808818.1:p.(Ile510Phe)	NC_000023.10:g.100911047T>A	(Likely) benign	1 lab	385a8f9c4d
5:90041510 ADGRV1 A>G	5	90041510	90041510	A	G	ADGRV1	c.10872A>G	NM_032119.4	NP_115495.3:p.(Gln3624=)	NC_000005.9:g.90041510A>G	(Likely) benign	1 lab	385f69c3ff
8:68395940 CPA6 T>G	8	68395940	68395940	T	G	CPA6	c.838+63A>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68395940T>G	(Likely) benign	1 lab	386275da50
X:24844689 POLA1 T>C	X	24844689	24844689	T	C	POLA1	c.3689T>C	NM_016937.4	NP_058633.2:p.(Ile1230Thr)	NC_000023.10:g.24844689T>C	(Likely) benign	1 lab	386ec7f4e3
22:51117219 SHANK3 C>T	22	51117219	51117219	C	T	SHANK3	c.696C>T	NM_001372044.1	NP_001358973.1:p.(Ala232=)	NC_000022.10:g.51117219C>T	(Likely) benign	1 lab	387427a850
2:47220576 TTC7A G>A	2	47220576	47220576	G	A	TTC7A	c.765-13G>A	NM_001288951.2	NP_001275880.1:p.?	NC_000002.11:g.47220576G>A	(Likely) benign	1 lab	387566ee5c
2:74129825 ACTG2 C>A	2	74129825	74129825	C	A	ACTG2	c.255+210C>A	NM_001615.4	NP_001606.1:p.?	NC_000002.11:g.74129825C>A	(Likely) benign	1 lab	3877ba4b2f
7:135272307 NUP205 C>G	7	135272307	135272307	C	G	NUP205	c.1219-16C>G	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135272307C>G	(Likely) benign	1 lab	38796c24cf
15:93514906 CHD2 A>T	15	93514906	93514906	A	T	CHD2	c.2190-89A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93514906A>T	(Likely) benign	1 lab	387af158a2
2:232099940 ARMC9 T>C	2	232099940	232099940	T	C	ARMC9	c.626T>C	NM_025139.6	NP_079415.4:p.(Ile209Thr)	NC_000002.11:g.232099940T>C	(Likely) benign	1 lab	388078e864
17:78081601 GAA C>T	17	78081601	78081601	C	T	GAA	c.861C>T	NM_000152.3	NP_000143.2:p.(Pro287=)	NC_000017.10:g.78081601C>T	VUS	1 lab	3880fa087b
16:67692172 ACD C>T	16	67692172	67692172	C	T	ACD	c.923G>A	NM_001082486.2	NP_001075955.2:p.(Gly308Glu)	NC_000016.9:g.67692172C>T	(Likely) benign	1 lab	38880f362e
6:45390430 RUNX2 ACAGCAGCAGCAGCAACAGCAG>A	6	45390430	45390484	ACAGCAGCAGCAGCAACAGCAG	A	RUNX2	c.193_213del	NM_001024630.4	NP_001019801.3:p.(Gln65_Gln71del)	NC_000006.11:g.45390464_45390484del	(Likely) benign	1 lab	cd5cb37c9b
9:98244464 PTCH1 CA>C	9	98244464	98244467	CA	C	PTCH1	c.605del	NM_000264.5	NP_000255.2:p.(Leu202CysfsTer18)	NC_000009.11:g.98244467del	(Likely) pathogenic	1 lab	cd5e4dcca7
12:6443025 TNFRSF1A T>C	12	6443025	6443025	T	C	TNFRSF1A	c.200A>G	NM_001065.3	NP_001056.1:p.(Tyr67Cys)	NC_000012.11:g.6443025T>C	(Likely) pathogenic	1 lab	38a1a58b27
X:136649457 ZIC3 G>A	X	136649457	136649457	G	A	ZIC3	c.607G>A	NM_003413.4	NP_003404.1:p.(Ala203Thr)	NC_000023.10:g.136649457G>A	(Likely) benign	1 lab	38a2e3d2e4
1:53668082 CPT2 A>G	1	53668082	53668082	A	G	CPT2	c.321A>G	NM_000098.3	NP_000089.1:p.(Lys107=)	NC_000001.10:g.53668082A>G	(Likely) benign	1 lab	38a3417b91
X:153219975 HCFC1 G>A	X	153219975	153219975	G	A	HCFC1	c.3875C>T	NM_005334.3	NP_005325.2:p.(Pro1292Leu)	NC_000023.10:g.153219975G>A	(Likely) benign	1 lab	38a48ddb25
14:65230317 SPTB C>T	14	65230317	65230317	C	T	SPTB	c.6345+3127G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65230317C>T	(Likely) benign	1 lab	38aa927954
2:109345672 RANBP2 A>G	2	109345672	109345672	A	G	RANBP2	c.140+17A>G	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109345672A>G	(Likely) benign	1 lab	38af7f2d0a
15:91548600 VPS33B C>T	15	91548600	91548600	C	T	VPS33B	c.1105+10G>A	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91548600C>T	(Likely) benign	1 lab	38b50a1bc9
20:30407398 MYLK2 T>G	20	30407398	30407398	T	G	MYLK2	c.15T>G	NM_033118.4	NP_149109.1:p.(Asn5Lys)	NC_000020.10:g.30407398T>G	VUS	1 lab	cd60c0b580
3:47041804 NBEAL2 C>T	3	47041804	47041804	C	T	NBEAL2	c.4215C>T	NM_015175.2	NP_055990.1:p.(His1405=)	NC_000003.11:g.47041804C>T	(Likely) benign	1 lab	38b832276a
14:20915565 OSGEP G>C	14	20915565	20915565	G	C	OSGEP	c.968+16C>G	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20915565G>C	(Likely) benign	1 lab	38b972632c
13:39266472 FREM2 C>T	13	39266472	39266472	C	T	FREM2	c.4991C>T	NM_207361.6	NP_997244.4:p.(Ala1664Val)	NC_000013.10:g.39266472C>T	(Likely) benign	1 lab	38bee0c2ce
19:55668438 TNNI3 C>T	19	55668438	55668438	C	T	TNNI3	c.88G>A	NM_000363.4	NP_000354.4:p.(Ala30Thr)	NC_000019.9:g.55668438C>T	(Likely) pathogenic	1 lab	38c6803de5
5:161524519 GABRG2 G>T	5	161524519	161524519	G	T	GABRG2				NC_000005.9:g.161524519G>T	(Likely) benign	1 lab	38c9e465cf
14:45658332 FANCM C>G	14	45658332	45658332	C	G	FANCM	c.5107C>G	NM_020937.2	NP_065988.1:p.(His1703Asp)	NC_000014.8:g.45658332C>G	(Likely) benign	1 lab	38caa82ba4
10:78737508 KCNMA1 C>A	10	78737508	78737508	C	A	KCNMA1	c.2105-7683G>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78737508C>A	(Likely) benign	1 lab	38cb11212f
20:62044756 KCNQ2 C>G	20	62044756	62044756	C	G	KCNQ2	c.1763+47G>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62044756C>G	(Likely) benign	1 lab	38cf8730a5
6:8064583 BLOC1S5 A>T	6	8064583	8064583	A	T	BLOC1S5	c.27T>A	NM_201280.3	NP_958437.1:p.(Pro9=)	NC_000006.11:g.8064583A>T	(Likely) benign	1 lab	38d1df3b82
7:116538822 CAPZA2 T>A	7	116538822	116538822	T	A	CAPZA2	c.156-4T>A	NM_006136.3	NP_006127.1:p.?	NC_000007.13:g.116538822T>A	(Likely) benign	1 lab	38d2dfcefa
3:186302391 DNAJB11 A>ATTGTGTGTGTGTGTGTGTGTGTGT	3	186302391	186302392	A	ATTGTGTGTGTGTGTGTGTGTGTGT	DNAJB11	c.1012+13_1012+14insTTGTGTGTGTGTGTGTGTGTGTGT	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391_186302392insTTGTGTGTGTGTGTGTGTGTGTGT	(Likely) benign	1 lab	38d3cd5569
10:13237117 MCM10 C>T	10	13237117	13237117	C	T	MCM10	c.1825C>T	NM_182751.3	NP_877428.1:p.(Arg609Trp)	NC_000010.10:g.13237117C>T	(Likely) benign	1 lab	38e38d17e0
5:112174630 APC T>G	5	112174630	112174630	T	G	APC				NC_000005.9:g.112174630T>G	VUS	1 lab	38e3ea2c41
16:15814922 MYH11 G>A	16	15814922	15814922	G	A	MYH11	c.4600-14C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15814922G>A	(Likely) benign	1 lab	38e75f6233
6:32943142 BRD2 C>G	6	32943142	32943142	C	G	BRD2	c.334-19C>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943142C>G	(Likely) benign	1 lab	38e9fccf12
16:1251809 CACNA1H T>C	16	1251809	1251809	T	C	CACNA1H	c.1359T>C	NM_021098.3	NP_066921.2:p.(Pro453=)	NC_000016.9:g.1251809T>C	(Likely) benign	1 lab	38ea016d8a
16:2158729 PKD1 G>A	16	2158729	2158729	G	A	PKD1	c.6439C>T	NM_001009944.2	NP_001009944.2:p.(Arg2147Trp)	NC_000016.9:g.2158729G>A	(Likely) benign	1 lab	38ea672e6b
2:227896985 COL4A4 A>AT	2	227896985	227896986	A	AT	COL4A4	c.3584dup	NM_000092.4	NP_000083.3:p.(His1195GlnfsTer2)	NC_000002.11:g.227896986dup	(Likely) pathogenic	1 lab	38eb38254c
12:98927287 TMPO C>G	12	98927287	98927287	C	G	TMPO	c.1252C>G	NM_003276.2	NP_003267.1:p.(Gln418Glu)	NC_000012.11:g.98927287C>G	(Likely) benign	1 lab	38eee1e343
11:117280517 CEP164 C>G	11	117280517	117280517	C	G	CEP164	c.3932C>G	NM_014956.5	NP_055771.4:p.(Thr1311Ser)	NC_000011.9:g.117280517C>G	(Likely) benign	1 lab	38fa2d9d3f
15:48720624 FBN1 G>A	15	48720624	48720624	G	A	FBN1	c.6916C>T	NM_000138.4	NP_000129.3:p.(Arg2306Cys)	NC_000015.9:g.48720624G>A	(Likely) pathogenic	1 lab	38fd92f464
2:166848467 SCN1A G>T	2	166848467	166848467	G	T	SCN1A	c.5318C>A	NM_001165963.3	NP_001159435.1:p.(Ser1773Tyr)	NC_000002.11:g.166848467G>T	(Likely) pathogenic	1 lab	38ff40f54d
1:155264261 PKLR C>T	1	155264261	155264261	C	T	PKLR	c.965+12G>A	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155264261C>T	(Likely) benign	1 lab	39027e0208
5:37206436 CPLANE1 A>G	5	37206436	37206436	A	G	CPLANE1	c.3012T>C	NM_023073.3	NP_075561.3:p.(Tyr1004=)	NC_000005.9:g.37206436A>G	(Likely) benign	1 lab	3902e71cd1
4:151271316 LRBA A>G	4	151271316	151271316	A	G	LRBA	c.7195-5T>C	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151271316A>G	(Likely) benign	1 lab	3908158f22
15:48789550 FBN1 T>C	15	48789550	48789550	T	C	FBN1	c.2206A>G	NM_000138.5	NP_000129.3:p.(Asn736Asp)	NC_000015.9:g.48789550T>C	(Likely) benign	1 lab	cd63c609fd
15:63358032 TPM1 CTT>C	15	63358032	63358046	CTT	C	TPM1	c.852-50_852-49del	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63358045_63358046del	(Likely) benign	1 lab	391019d119
1:172628488 FASLG G>A	1	172628488	172628488	G	A	FASLG	c.147G>A	NM_000639.1	NP_000630.1:p.(Pro49=)	NC_000001.10:g.172628488G>A	(Likely) benign	1 lab	3910ea6c6c
2:204571466 CD28 T>C	2	204571466	204571466	T	C	CD28	c.47T>C	NM_006139.4	NP_006130.1:p.(Val16Ala)	NC_000002.11:g.204571466T>C	(Likely) benign	1 lab	3916312253
1:150053521 VPS45 T>C	1	150053521	150053521	T	C	VPS45	c.785T>C	NM_007259.4	NP_009190.2:p.(Val262Ala)	NC_000001.10:g.150053521T>C	(Likely) benign	1 lab	391a2f66c3
X:153593100 FLNA A>G	X	153593100	153593100	A	G	FLNA	c.1829-13T>C	NM_001456.3	NP_001447.2:p.?	NC_000023.10:g.153593100A>G	(Likely) benign	1 lab	39200b8cef
2:179439665 TTN CA>C	2	179439665	179439666	CA	C	TTN	c.71193del	NM_001267550.2	NP_001254479.2:p.(Gly23732AspfsTer13)	NC_000002.11:g.179439666del	(Likely) pathogenic	1 lab	cd6b9a2477
1:237821287 RYR2 G>A	1	237821287	237821287	G	A	RYR2	c.8173G>A	NM_001035.3	NP_001026.2:p.(Ala2725Thr)	NC_000001.10:g.237821287G>A	VUS	1 lab	cd6e682b8d
18:21511089 LAMA3 A>G	18	21511089	21511089	A	G	LAMA3	c.8500=	NM_198129.4	NP_937762.2:p.(Gly2834=)	NC_000018.9:g.21511089A>G	(Likely) benign	1 lab	cd705c2004
14:105172462 INF2 C>T	14	105172462	105172462	C	T	INF2	c.792C>T	NM_022489.3	NP_071934.3:p.(Gly264=)	NC_000014.8:g.105172462C>T	(Likely) benign	1 lab	3957403503
12:66850160 GRIP1 A>G	12	66850160	66850160	A	G	GRIP1	c.1043-816T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66850160A>G	(Likely) benign	1 lab	3957d8bef6
15:48780291 FBN1 C>T	15	48780291	48780291	C	T	FBN1	c.3337+19G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48780291C>T	(Likely) benign	1 lab	395e1c27b1
16:1250520 CACNA1H C>T	16	1250520	1250520	C	T	CACNA1H	c.1068C>T	NM_021098.3	NP_066921.2:p.(Asn356=)	NC_000016.9:g.1250520C>T	(Likely) benign	1 lab	395f8fd66a
X:107821366 COL4A5 A>G	X	107821366	107821366	A	G	COL4A5	c.687+17A>G	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107821366A>G	(Likely) benign	1 lab	3960f62511
X:49054340 SYP G>T	X	49054340	49054340	G	T	SYP	c.103-42C>A	NM_003179.2	NP_003170.1:p.?	NC_000023.10:g.49054340G>T	(Likely) benign	1 lab	3b38a34fec
7:156798313 MNX1 G>A	7	156798313	156798313	G	A	MNX1	c.471C>T	NM_001165255.1	NP_001158727.1:p.(Pro157=)	NC_000007.13:g.156798313G>A	(Likely) benign	1 lab	3962e230a7
4:140811085 MAML3 TGCTGCTGCTGC>T	4	140811085	140811096	TGCTGCTGCTGC	T	MAML3	c.1494_1504del	NM_018717.5	NP_061187.3:p.(Gln499AlafsTer24)	NC_000004.11:g.140811086_140811096del	(Likely) benign	1 lab	396c1a70fe
17:26851559 FOXN1 C>T	17	26851559	26851559	C	T	FOXN1	c.162C>T	NM_003593.2	NP_003584.2:p.(Asp54=)	NC_000017.10:g.26851559C>T	(Likely) benign	1 lab	396cacb8be
3:134323012 KY C>T	3	134323012	134323012	C	T	KY	c.1395G>A	NM_178554.6	NP_848649.3:p.(Lys465=)	NC_000003.11:g.134323012C>T	(Likely) benign	1 lab	3972a11ecc
11:119149208 CBL C>CT	11	119149208	119149210	C	CT	CBL	c.1228-10dup	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119149210dup	(Likely) benign	1 lab	39735f39ef
17:56321451 LPO GACAC>G	17	56321451	56321493	GACAC	G	LPO	c.164+48_164+51del	NM_006151.3	NP_006142.1:p.?	NC_000017.10:g.56321490_56321493del	(Likely) benign	1 lab	3974168732
X:119668212 CUL4B TA>T	X	119668212	119668221	TA	T	CUL4B	c.2266+123del	NM_001079872.2	NP_001073341.1:p.?	NC_000023.10:g.119668221del	(Likely) benign	1 lab	397583dbbf
12:49449075 KMT2D T>A	12	49449075	49449075	T	A	KMT2D	c.33A>T	NM_003482.3	NP_003473.3:p.(Lys11Asn)	NC_000012.11:g.49449075T>A	(Likely) benign	1 lab	39785d40ce
15:48726831 FBN1 G>A	15	48726831	48726831	G	A	FBN1	c.6576C>T	NM_000138.4	NP_000129.3:p.(Cys2192=)	NC_000015.9:g.48726831G>A	(Likely) benign	1 lab	39831f4d8a
X:54841725 MAGED2 G>A	X	54841725	54841725	G	A	MAGED2	c.1431G>A	NM_177433.3	NP_803182.1:p.(Glu477=)	NC_000023.10:g.54841725G>A	(Likely) benign	1 lab	39876677a8
2:163124620 IFIH1 G>A	2	163124620	163124620	G	A	IFIH1	c.2784C>T	NM_022168.4	NP_071451.2:p.(His928=)	NC_000002.11:g.163124620G>A	(Likely) benign	1 lab	398c76117f
6:51890804 PKHD1 G>A	6	51890804	51890804	G	A	PKHD1	c.3804C>T	NM_138694.4	NP_619639.3:p.(Ala1268=)	NC_000006.11:g.51890804G>A	(Likely) benign	1 lab	3993d171db
8:41543675 ANK1 G>A	8	41543675	41543675	G	A	ANK1	c.4508C>T	NM_001142446.2	NP_001135918.1:p.(Ala1503Val)	NC_000008.10:g.41543675G>A	(Likely) benign	1 lab	3999c09774
5:89986778 ADGRV1 A>G	5	89986778	89986778	A	G	ADGRV1	c.6871A>G	NM_032119.4	NP_115495.3:p.(Asn2291Asp)	NC_000005.9:g.89986778A>G	(Likely) benign	1 lab	399acc781c
19:45997490 RTN2 G>T	19	45997490	45997490	G	T	RTN2	c.748C>A	NM_005619.5	NP_005610.1:p.(Pro250Thr)	NC_000019.9:g.45997490G>T	VUS	1 lab	cd717d1f00
5:89931242 ADGRV1 C>T	5	89931242	89931242	C	T	ADGRV1	c.2016+135C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89931242C>T	(Likely) benign	1 lab	39a20d1d45
6:32025949 TNXB G>C	6	32025949	32025949	G	C	TNXB	c.7711C>G	NM_019105.8	NP_061978.6:p.(Gln2571Glu)	NC_000006.11:g.32025949G>C	(Likely) benign	1 lab	39a3531fda
14:23885021 MYH7 G>A	14	23885021	23885021	G	A	MYH7	c.4974C>T	NM_000257.2	NP_000248.2:p.(Asp1658=)	NC_000014.8:g.23885021G>A	(Likely) benign	1 lab	39a61b0545
8:28575673 EXTL3 C>G	8	28575673	28575673	C	G	EXTL3	c.2097C>G	NM_001440.4	NP_001431.1:p.(Pro699=)	NC_000008.10:g.28575673C>G	(Likely) benign	1 lab	39b662a1fb
10:115348771 NRAP A>ATCTC	10	115348771	115348775	A	ATCTC	NRAP	c.5155_5158dup	NM_001261463.1	NP_001248392.1:p.(Ile1720ArgfsTer22)	NC_000010.10:g.115348772_115348775dup	VUS	1 lab	39b7f9d4ee
2:179451354 TTN CTCAGA>C	2	179451354	179451361	CTCAGA	C	TTN	c.64269_64273del	NM_001267550.2	NP_001254479.2:p.(Asp21423GlufsTer16)	NC_000002.11:g.179451357_179451361del	(Likely) pathogenic	1 lab	39bea221dc
1:120512120 NOTCH2 C>T	1	120512120	120512120	C	T	NOTCH2	c.1108+14G>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120512120C>T	(Likely) benign	1 lab	39c2e8e319
12:21997449 ABCC9 G>A	12	21997449	21997449	G	A	ABCC9	c.3283C>T	NM_020297.4	NP_064693.2:p.(Arg1095Cys)	NC_000012.11:g.21997449G>A	VUS	1 lab	cd7378ef05
19:36317544 NPHS1 G>A	19	36317544	36317544	G	A	NPHS1	c.3598C>T	NM_004646.3	NP_004637.1:p.(Pro1200Ser)	NC_000019.9:g.36317544G>A	(Likely) benign	1 lab	39c5500f5c
1:237551394 RYR2 C>T	1	237551394	237551394	C	T	RYR2	c.684C>T	NM_001035.3	NP_001026.2:p.(Leu228=)	NC_000001.10:g.237551394C>T	(Likely) benign	1 lab	39c669224d
12:6442942 TNFRSF1A G>A	12	6442942	6442942	G	A	TNFRSF1A	c.283C>T	NM_001065.3	NP_001056.1:p.(His95Tyr)	NC_000012.11:g.6442942G>A	(Likely) pathogenic	1 lab	39ca2b4041
15:82517531 EFL1 T>C	15	82517531	82517531	T	C	EFL1	c.1267A>G	NM_024580.6	NP_078856.4:p.(Lys423Glu)	NC_000015.9:g.82517531T>C	(Likely) benign	1 lab	39ccd980f6
6:49580247 RHAG C>T	6	49580247	49580247	C	T	RHAG	c.808G>A	NM_000324.2	NP_000315.2:p.(Val270Ile)	NC_000006.11:g.49580247C>T	(Likely) benign	1 lab	39d22d4ae5
16:81939092 PLCG2 A>G	16	81939092	81939092	A	G	PLCG2	c.1447A>G	NM_002661.3	NP_002652.2:p.(Met483Val)	NC_000016.9:g.81939092A>G	(Likely) benign	1 lab	39d38e4442
3:49454843 AMT C>A	3	49454843	49454843	C	A	AMT	c.*130G>T	NM_000481.3	NP_000472.2:p.?	NC_000003.11:g.49454843C>A	(Likely) benign	1 lab	39d7f65dd5
10:21169712 NEBL C>A	10	21169712	21169712	C	A	NEBL	c.480+11G>T	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21169712C>A	(Likely) benign	1 lab	39de299b39
19:46280717 DMPK G>A	19	46280717	46280717	G	A	DMPK	c.1044C>T	NM_001081563.2	NP_001075032.1:p.(Phe348=)	NC_000019.9:g.46280717G>A	(Likely) benign	1 lab	39e2bc96c8
5:90119470 ADGRV1 A>G	5	90119470	90119470	A	G	ADGRV1	c.16368+57A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90119470A>G	(Likely) benign	1 lab	39e2e14805
X:76912037 ATRX C>T	X	76912037	76912037	C	T	ATRX	c.4214+13G>A	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76912037C>T	(Likely) benign	1 lab	39eaf4a5db
2:152733083 CACNB4 A>C	2	152733083	152733083	A	C	CACNB4	c.391-13T>G	NM_000726.4	NP_000717.2:p.?	NC_000002.11:g.152733083A>C	(Likely) benign	1 lab	39ef19b9fc
5:131008112 FNIP1 G>A	5	131008112	131008112	G	A	FNIP1	c.2025C>T	NM_133372.3	NP_588613.3:p.(Asp675=)	NC_000005.9:g.131008112G>A	(Likely) benign	1 lab	39f34a7e6a
11:117857260 IL10RA G>A	11	117857260	117857260	G	A	IL10RA	c.67+11G>A	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117857260G>A	(Likely) benign	1 lab	3a008ee87c
1:36939140 CSF3R C>T	1	36939140	36939140	C	T	CSF3R	c.569G>A	NM_000760.4	NP_000751.1:p.(Arg190His)	NC_000001.10:g.36939140C>T	VUS	1 lab	3a01da46c9
3:128976663 COPG1 G>A	3	128976663	128976663	G	A	COPG1	c.831G>A	NM_016128.4	NP_057212.1:p.(Leu277=)	NC_000003.11:g.128976663G>A	(Likely) benign	1 lab	3a028ac33d
2:179407780 TTN G>C	2	179407780	179407780	G	C	TTN	c.70084+16C>G	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179407780G>C	(Likely) benign	1 lab	3a02c081c6
1:160326394 NCSTN C>T	1	160326394	160326394	C	T	NCSTN	c.1644C>T	NM_015331.3	NP_056146.1:p.(Asp548=)	NC_000001.10:g.160326394C>T	(Likely) benign	1 lab	3a082bc097
4:79434692 FRAS1 T>C	4	79434692	79434692	T	C	FRAS1	c.10160T>C	NM_025074.7	NP_079350.5:p.(Leu3387Pro)	NC_000004.11:g.79434692T>C	(Likely) benign	1 lab	3a0dda4679
2:98353925 ZAP70 C>T	2	98353925	98353925	C	T	ZAP70	c.1290-11C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98353925C>T	(Likely) benign	1 lab	3a0e42d9da
1:237798180 RYR2 A>C	1	237798180	237798180	A	C	RYR2	c.6689-9A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237798180A>C	(Likely) benign	1 lab	3a1255d89b
16:2156478 PKD1 CG>C	16	2156478	2156481	CG	C	PKD1	c.7409del	NM_001009944.3	NP_001009944.3:p.(Pro2470ArgfsTer150)	NC_000016.9:g.2156481del	(Likely) pathogenic	1 lab	3a1569c882
7:143036548 CLCN1 T>A	7	143036548	143036548	T	A	CLCN1	c.1472-56T>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143036548T>A	(Likely) benign	1 lab	3a17c9c6b4
5:154275682 GEMIN5 T>C	5	154275682	154275682	T	C	GEMIN5	c.3567A>G	NM_015465.5	NP_056280.2:p.(Pro1189=)	NC_000005.9:g.154275682T>C	(Likely) benign	1 lab	3a181c5912
11:9199920 DENND5A G>A	11	9199920	9199920	G	A	DENND5A	c.1672-7C>T	NM_015213.4	NP_056028.2:p.?	NC_000011.9:g.9199920G>A	(Likely) benign	1 lab	3a1a4a0dea
9:139401292 NOTCH1 G>A	9	139401292	139401292	G	A	NOTCH1	c.3777C>T	NM_017617.5	NP_060087.3:p.(Phe1259=)	NC_000009.11:g.139401292G>A	(Likely) benign	1 lab	3a1e2f432f
15:48802240 FBN1 C>T	15	48802240	48802240	C	T	FBN1	c.1714+1G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48802240C>T	(Likely) pathogenic	1 lab	3a2078587d
9:116153352 ALAD T>C	9	116153352	116153352	T	C	ALAD	c.262-139A>G	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116153352T>C	(Likely) benign	1 lab	3a23431e10
14:74422603 COQ6 T>C	14	74422603	74422603	T	C	COQ6	c.453T>C	NM_182476.3	NP_872282.1:p.(Ala151=)	NC_000014.8:g.74422603T>C	(Likely) benign	1 lab	3a234cce73
2:168103083 XIRP2 TA>T	2	168103083	168103087	TA	T	XIRP2	c.5185del	NM_152381.6	NP_689594.4:p.(Ile1729TyrfsTer22)	NC_000002.11:g.168103087del	VUS	1 lab	3a2411fc5f
5:60628273 ZSWIM6 G>C	5	60628273	60628273	G	C	ZSWIM6	c.174G>C	NM_020928.2	NP_065979.1:p.(Gly58=)	NC_000005.9:g.60628273G>C	(Likely) benign	1 lab	3a25dc3002
8:41574488 ANK1 C>T	8	41574488	41574488	C	T	ANK1	c.1387G>A	NM_000037.4	NP_000028.3:p.(Val463Ile)	NC_000008.10:g.41574488C>T	(Likely) benign	1 lab	3a2997620a
8:145737788 RECQL4 G>A	8	145737788	145737788	G	A	RECQL4	c.3042C>T	NM_004260.3	NP_004251.3:p.(His1014=)	NC_000008.10:g.145737788G>A	(Likely) benign	1 lab	3a2a872503
3:23960882 RPL15 C>T	3	23960882	23960882	C	T	RPL15	c.505C>T	NM_001253380.2	NP_001240309.1:p.(Arg169Ter)	NC_000003.11:g.23960882C>T	VUS	1 lab	cd7649e6de
14:65268510 SPTB C>T	14	65268510	65268510	C	T	SPTB	c.609G>A	NM_001024858.3	NP_001020029.1:p.(Lys203=)	NC_000014.8:g.65268510C>T	(Likely) benign	1 lab	3a378f7d33
12:52309094 ACVRL1 C>A	12	52309094	52309094	C	A	ACVRL1	c.858C>A	NM_000020.2	NP_000011.2:p.(Tyr286Ter)	NC_000012.11:g.52309094C>A	(Likely) pathogenic	1 lab	3a3f3afb1e
16:2150561 PKD1 G>A	16	2150561	2150561	G	A	PKD1	c.9404C>T	NM_001009944.2	NP_001009944.2:p.(Thr3135Met)	NC_000016.9:g.2150561G>A	(Likely) pathogenic	1 lab	3a4136d8cc
11:20676319 SLC6A5 G>A	11	20676319	20676319	G	A	SLC6A5	c.2299G>A	NM_004211.5	NP_004202.4:p.(Gly767Arg)	NC_000011.9:g.20676319G>A	(Likely) benign	1 lab	3a454a9820
1:205180591 DSTYK G>A	1	205180591	205180591	G	A	DSTYK	c.73C>T	NM_015375.3	NP_056190.1:p.(Arg25Cys)	NC_000001.10:g.205180591G>A	VUS	1 lab	3a4619cbac
12:88510750 CEP290 CA>C	12	88510750	88510771	CA	C	CEP290	c.1824+59del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88510771del	(Likely) benign	1 lab	3a461a8a66
5:169533195 FOXI1 C>T	5	169533195	169533195	C	T	FOXI1	c.234C>T	NM_012188.5	NP_036320.2:p.(Gly78=)	NC_000005.9:g.169533195C>T	(Likely) benign	1 lab	3a4c1ce8af
6:51613184 PKHD1 C>G	6	51613184	51613184	C	G	PKHD1	c.9230G>C	NM_138694.4	NP_619639.3:p.(Trp3077Ser)	NC_000006.11:g.51613184C>G	(Likely) pathogenic	1 lab	3a4cc9458a
3:135974825 PCCB T>A	3	135974825	135974825	T	A	PCCB	c.303+8T>A	NM_001178014.1	NP_001171485.1:p.?	NC_000003.11:g.135974825T>A	(Likely) benign	1 lab	3a51814de1
16:2165505 PKD1 G>A	16	2165505	2165505	G	A	PKD1	c.1971C>T	NM_001009944.2	NP_001009944.2:p.(Asp657=)	NC_000016.9:g.2165505G>A	(Likely) benign	1 lab	3a5a4c65cc
9:139412223 NOTCH1 G>T	9	139412223	139412223	G	T	NOTCH1	c.1422C>A	NM_017617.5	NP_060087.3:p.(Phe474Leu)	NC_000009.11:g.139412223G>T	VUS	1 lab	3a5d715e76
2:166221949 SCN2A G>GT	2	166221949	166221958	G	GT	SCN2A	c.3520+185dup	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166221958dup	(Likely) benign	1 lab	3a5f5775af
8:2089092 MYOM2 G>A	8	2089092	2089092	G	A	MYOM2	c.3993G>A	NM_003970.4	NP_003961.3:p.(Gln1331=)	NC_000008.10:g.2089092G>A	(Likely) benign	1 lab	3a6369fc9a
21:44839214 SIK1 A>T	21	44839214	44839214	A	T	SIK1	c.1245+19T>A	NM_173354.5	NP_775490.2:p.?	NC_000021.8:g.44839214A>T	(Likely) benign	1 lab	3a6b54a6b4
3:113517075 ATP6V1A G>GT	3	113517075	113517083	G	GT	ATP6V1A	c.1291-7dup	NM_001690.4	NP_001681.2:p.?	NC_000003.11:g.113517083dup	(Likely) benign	1 lab	3a6d96e282
1:236995270 MTR A>G	1	236995270	236995270	A	G	MTR	c.1080A>G	NM_000254.2	NP_000245.2:p.(Leu360=)	NC_000001.10:g.236995270A>G	(Likely) benign	1 lab	3a734f6d3c
15:91298158 BLM A>G	15	91298158	91298158	A	G	BLM	c.1077A>G	NM_000057.2	NP_000048.1:p.(Thr359=)	NC_000015.9:g.91298158A>G	(Likely) benign	1 lab	3a83c843ff
9:713310 KANK1 G>C	9	713310	713310	G	C	KANK1	c.2544G>C	NM_001256877.2	NP_001243806.1:p.(Leu848=)	NC_000009.11:g.713310G>C	(Likely) benign	1 lab	3a926da950
6:51930884 PKHD1 GT>G	6	51930884	51930886	GT	G	PKHD1	c.779-10del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51930886del	(Likely) benign	1 lab	3a99100995
X:76937247 ATRX CTTT>C	X	76937247	76937252	CTTT	C	ATRX	c.3498_3500del	NM_000489.6	NP_000480.3:p.(Lys1169del)	NC_000023.10:g.76937250_76937252del	VUS	1 lab	cd76d7acdd
17:39927762 JUP T>C	17	39927762	39927762	T	C	JUP	c.208+137A>G	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39927762T>C	(Likely) benign	1 lab	3a9c0a9ff3
9:123778599 C5 G>C	9	123778599	123778599	G	C	C5	c.1929C>G	NM_001735.2	NP_001726.2:p.(Ala643=)	NC_000009.11:g.123778599G>C	(Likely) benign	1 lab	3a9e6c3e60
16:3640394 SLX4 T>C	16	3640394	3640394	T	C	SLX4	c.3245A>G	NM_032444.2	NP_115820.2:p.(Gln1082Arg)	NC_000016.9:g.3640394T>C	(Likely) benign	1 lab	3a9ec21ba9
2:241696966 KIF1A G>C	2	241696966	241696966	G	C	KIF1A	c.2628C>G	NM_001244008.1	NP_001230937.1:p.(Cys876Trp)	NC_000002.11:g.241696966G>C	VUS	1 lab	3aa11aefff
12:103248989 PAH G>T	12	103248989	103248989	G	T	PAH	c.631C>A	NM_000277.3	NP_000268.1:p.(Pro211Thr)	NC_000012.11:g.103248989G>T	VUS	1 lab	3aa39cd8e7
5:137211688 MYOT A>G	5	137211688	137211688	A	G	MYOT	c.527A>G	NM_006790.2	NP_006781.1:p.(Asn176Ser)	NC_000005.9:g.137211688A>G	VUS	1 lab	3aa6077d3a
6:32948030 BRD2 C>T	6	32948030	32948030	C	T	BRD2	c.2252-89C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32948030C>T	(Likely) benign	1 lab	3aa83d9791
9:304717 DOCK8 A>G	9	304717	304717	A	G	DOCK8	c.528+13A>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.304717A>G	(Likely) benign	1 lab	3aa84079b2
19:48643347 LIG1 G>A	19	48643347	48643347	G	A	LIG1	c.968C>T	NM_000234.1	NP_000225.1:p.(Ser323Leu)	NC_000019.9:g.48643347G>A	(Likely) benign	1 lab	3aaec15696
9:131329218 SPTAN1 G>T	9	131329218	131329218	G	T	SPTAN1	c.199G>T	NM_001130438.2	NP_001123910.1:p.(Ala67Ser)	NC_000009.11:g.131329218G>T	(Likely) benign	1 lab	3ab180476c
22:32156608 DEPDC5 G>A	22	32156608	32156608	G	A	DEPDC5	c.147-34G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32156608G>A	(Likely) benign	1 lab	3ab8ab6bb0
2:179605488 TTN G>A	2	179605488	179605488	G	A	TTN	c.12472C>T	NM_001267550.1	NP_001254479.1:p.(Gln4158Ter)	NC_000002.11:g.179605488G>A	(Likely) pathogenic	1 lab	3abbf48d87
5:127873271 FBN2 A>G	5	127873271	127873271	A	G	FBN2	c.26T>C	NM_001999.4	NP_001990.2:p.(Leu9Pro)	NC_000005.9:g.127873271A>G	(Likely) benign	1 lab	cd77489c0b
9:14746261 FREM1 T>G	9	14746261	14746261	T	G	FREM1	c.6254+90A>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14746261T>G	(Likely) benign	1 lab	3ac42599a3
4:79240473 FRAS1 C>T	4	79240473	79240473	C	T	FRAS1	c.2137+333C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79240473C>T	(Likely) benign	1 lab	3ac4b7124a
18:33795608 MOCOS C>T	18	33795608	33795608	C	T	MOCOS	c.1465C>T	NM_017947.4	NP_060417.4:p.(Arg489Cys)	NC_000018.9:g.33795608C>T	(Likely) benign	1 lab	3ac53e838f
1:183212548 LAMC2 T>G	1	183212548	183212548	T	G	LAMC2	c.*13T>G	NM_005562.3	NP_005553.2:p.?	NC_000001.10:g.183212548T>G	(Likely) benign	1 lab	cd794da8a2
X:137715111 FGF13 G>A	X	137715111	137715111	G	A	FGF13	c.638C>T	NM_004114.5	NP_004105.1:p.(Thr213Met)	NC_000023.10:g.137715111G>A	VUS	1 lab	3acd55d6b2
16:3293821 MEFV C>T	16	3293821	3293821	C	T	MEFV	c.1792+39G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293821C>T	(Likely) benign	1 lab	3ad06c184d
12:110024559 MVK G>A	12	110024559	110024559	G	A	MVK	c.632G>A	NM_000431.2	NP_000422.1:p.(Gly211Glu)	NC_000012.11:g.110024559G>A	(Likely) pathogenic	1 lab	3ad3fe3e6e
20:31996352 SNTA1 G>A	20	31996352	31996352	G	A	SNTA1	c.1479C>T	NM_003098.2	NP_003089.1:p.(Phe493=)	NC_000020.10:g.31996352G>A	(Likely) benign	1 lab	3ad4066cfe
3:190347123 IL1RAP TTCTC>T	3	190347123	190347130	TTCTC	T	IL1RAP	c.903-12_903-9del	NM_002182.4	NP_002173.1:p.?	NC_000003.11:g.190347127_190347130del	(Likely) benign	1 lab	3ad65463f9
1:183556093 NCF2 T>C	1	183556093	183556093	T	C	NCF2	c.194A>G	NM_000433.3	NP_000424.2:p.(Asn65Ser)	NC_000001.10:g.183556093T>C	(Likely) benign	1 lab	3ad7981279
3:69168249 LMOD3 C>G	3	69168249	69168249	C	G	LMOD3	c.1257G>C	NM_198271.4	NP_938012.2:p.(Met419Ile)	NC_000003.11:g.69168249C>G	(Likely) benign	1 lab	3adc26743d
2:71788999 DYSF C>T	2	71788999	71788999	C	T	DYSF	c.2331C>T	NM_001130981.2	NP_001124453.1:p.(Leu777=)	NC_000002.11:g.71788999C>T	(Likely) benign	1 lab	3adda70a47
22:32174106 DEPDC5 G>A	22	32174106	32174106	G	A	DEPDC5	c.435G>A	NM_001242896.3	NP_001229825.1:p.(Trp145Ter)	NC_000022.10:g.32174106G>A	(Likely) pathogenic	1 lab	3addd98d0f
16:11001421 CIITA C>A	16	11001421	11001421	C	A	CIITA	c.2072C>A	NM_000246.3	NP_000237.2:p.(Ala691Asp)	NC_000016.9:g.11001421C>A	(Likely) benign	1 lab	3ade352201
4:79305177 FRAS1 T>G	4	79305177	79305177	T	G	FRAS1	c.3564-36T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79305177T>G	(Likely) benign	1 lab	3ae0453244
14:99724136 BCL11B G>A	14	99724136	99724136	G	A	BCL11B	c.99C>T	NM_138576.4	NP_612808.1:p.(Asp33=)	NC_000014.8:g.99724136G>A	(Likely) benign	1 lab	3ae213764f
20:34025965 GDF5 T>C	20	34025965	34025965	T	C	GDF5	c.-241-16A>G	NM_001319138.2	NP_001306067.1:p.?	NC_000020.10:g.34025965T>C	VUS	1 lab	cd7e7578a9
3:52485468 TNNC1 G>A	3	52485468	52485468	G	A	TNNC1	c.393C>T	NM_003280.2	NP_003271.1:p.(Asp131=)	NC_000003.11:g.52485468G>A	(Likely) benign	1 lab	3ae8ac0e44
7:91855996 KRIT1 C>T	7	91855996	91855996	C	T	KRIT1	c.990G>A	NM_194456.1	NP_919438.1:p.(Trp330Ter)	NC_000007.13:g.91855996C>T	(Likely) pathogenic	1 lab	3aea5052ad
18:34205532 FHOD3 G>A	18	34205532	34205532	G	A	FHOD3	c.1016G>A	NM_001281740.3	NP_001268669.1:p.(Arg339Gln)	NC_000018.9:g.34205532G>A	(Likely) benign	1 lab	3aec153f9c
16:9934691 GRIN2A G>A	16	9934691	9934691	G	A	GRIN2A	c.1498-34C>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9934691G>A	(Likely) benign	1 lab	3aeea71218
22:36718618 MYH9 G>A	22	36718618	36718618	G	A	MYH9	c.613-52C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36718618G>A	(Likely) benign	1 lab	3b66e01a9a
5:172661804 NKX2-5 G>A	5	172661804	172661804	G	A	NKX2-5	c.283C>T	NM_001166175.2	NP_001159647.1:p.(Arg95Cys)	NC_000005.9:g.172661804G>A	VUS	1 lab	3af6956595
7:100238650 TFR2 G>A	7	100238650	100238650	G	A	TFR2	c.235C>T	NM_003227.4	NP_003218.2:p.(Arg79Trp)	NC_000007.13:g.100238650G>A	VUS	1 lab	cd82bf0d2f
17:43535752 PLEKHM1 T>C	17	43535752	43535752	T	C	PLEKHM1	c.1362A>G	NM_014798.3	NP_055613.1:p.(Gln454=)	NC_000017.10:g.43535752T>C	(Likely) benign	1 lab	3afb3c981a
16:30750923 SRCAP C>T	16	30750923	30750923	C	T	SRCAP	c.9562C>T	NM_006662.3	NP_006653.2:p.(Arg3188Cys)	NC_000016.9:g.30750923C>T	(Likely) benign	1 lab	cd83f9800d
8:145007239 PLEC C>T	8	145007239	145007239	C	T	PLEC	c.1870G>A	NM_201380.4	NP_958782.1:p.(Glu624Lys)	NC_000008.10:g.145007239C>T	VUS	1 lab	3b0b755ee0
14:23894059 MYH7 G>A	14	23894059	23894059	G	A	MYH7	c.2598C>T	NM_000257.2	NP_000248.2:p.(Ser866=)	NC_000014.8:g.23894059G>A	VUS	1 lab	3b0b786c08
1:181701996 CACNA1E G>A	1	181701996	181701996	G	A	CACNA1E	c.2774G>A	NM_000721.4	NP_000712.2:p.(Arg925His)	NC_000001.10:g.181701996G>A	(Likely) benign	1 lab	3b155e3152
1:17350484 SDHB G>A	1	17350484	17350484	G	A	SDHB	c.626C>T	NM_003000.2	NP_002991.2:p.(Pro209Leu)	NC_000001.10:g.17350484G>A	(Likely) pathogenic	1 lab	3b15fd89c1
1:237619875 RYR2 AT>A	1	237619875	237619889	AT	A	RYR2	c.1477-11del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237619889del	(Likely) benign	1 lab	3b199845da
20:62073861 KCNQ2 G>A	20	62073861	62073861	G	A	KCNQ2	c.714C>T	NM_172107.4	NP_742105.1:p.(Ile238=)	NC_000020.10:g.62073861G>A	(Likely) benign	1 lab	3b1d940ff3
X:70347330 MED12 G>A	X	70347330	70347330	G	A	MED12	c.2981+13G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70347330G>A	(Likely) benign	1 lab	3b2270eda1
1:235945213 LYST C>T	1	235945213	235945213	C	T	LYST	c.5023+14G>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235945213C>T	(Likely) benign	1 lab	3b26ee19fe
17:39921303 JUP T>C	17	39921303	39921303	T	C	JUP	c.926A>G	NM_002230.2	NP_002221.1:p.(Asn309Ser)	NC_000017.10:g.39921303T>C	VUS	1 lab	3b2cf23952
19:1619350 TCF3 C>T	19	1619350	1619350	C	T	TCF3	c.1291G>A	NM_003200.5	NP_003191.1:p.(Gly431Ser)	NC_000019.9:g.1619350C>T	(Likely) benign	1 lab	3b311178d1
1:155264149 PKLR G>T	1	155264149	155264149	G	T	PKLR	c.993C>A	NM_000298.6	NP_000289.1:p.(Asp331Glu)	NC_000001.10:g.155264149G>T	(Likely) pathogenic	1 lab	3b32857a96
X:100611936 BTK C>T	X	100611936	100611936	C	T	BTK	c.1185G>A	NM_000061.2	NP_000052.1:p.(Trp395Ter)	NC_000023.10:g.100611936C>T	(Likely) pathogenic	1 lab	3b356c9625
4:186435955 PDLIM3 G>A	4	186435955	186435955	G	A	PDLIM3	c.420C>T	NM_001114107.5	NP_001107579.1:p.(Ser140=)	NC_000004.11:g.186435955G>A	VUS	1 lab	3b36f3d8d2
6:33411673 SYNGAP1 T>C	6	33411673	33411673	T	C	SYNGAP1	c.3344T>C	NM_006772.3	NP_006763.2:p.(Ile1115Thr)	NC_000006.11:g.33411673T>C	(Likely) benign	1 lab	3b39df6c87
11:118220621 CD3G T>C	11	118220621	118220621	T	C	CD3G	c.243T>C	NM_000073.2	NP_000064.1:p.(Pro81=)	NC_000011.9:g.118220621T>C	(Likely) benign	1 lab	3b3e1ce65c
12:69746950 LYZ G>A	12	69746950	69746950	G	A	LYZ	c.398G>A	NM_000239.2	NP_000230.1:p.(Arg133His)	NC_000012.11:g.69746950G>A	(Likely) benign	1 lab	3b3e92342f
4:187524744 FAT1 G>A	4	187524744	187524744	G	A	FAT1	c.10936C>T	NM_005245.4	NP_005236.2:p.(Arg3646Cys)	NC_000004.11:g.187524744G>A	(Likely) benign	1 lab	3b43e6364c
1:183187603 LAMC2 C>T	1	183187603	183187603	C	T	LAMC2	c.483C>T	NM_005562.3	NP_005553.2:p.(Val161=)	NC_000001.10:g.183187603C>T	(Likely) benign	1 lab	cd8b94ab0f
9:134394834 POMT1 C>G	9	134394834	134394834	C	G	POMT1	c.1449C>G	NM_001353198.2	NP_001340127.2:p.(Ser483Arg)	NC_000009.11:g.134394834C>G	(Likely) benign	1 lab	3b46fb4a50
19:2129304 AP3D1 G>A	19	2129304	2129304	G	A	AP3D1	c.732+13C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2129304G>A	(Likely) benign	1 lab	3b4b6d8140
6:7586015 DSP G>A	6	7586015	7586015	G	A	DSP	c.8520G>A	NM_004415.2	NP_004406.2:p.(Gly2840=)	NC_000006.11:g.7586015G>A	(Likely) benign	1 lab	3b4d4fee62
12:53453716 TNS2 G>A	12	53453716	53453716	G	A	TNS2	c.2321G>A	NM_015319.2	NP_056134.2:p.(Gly774Glu)	NC_000012.11:g.53453716G>A	(Likely) benign	1 lab	3b51067ecd
2:166897991 SCN1A A>G	2	166897991	166897991	A	G	SCN1A	c.2177-12T>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166897991A>G	(Likely) benign	1 lab	3b51596476
8:41558898 ANK1 T>G	8	41558898	41558898	T	G	ANK1	c.2461+170A>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41558898T>G	(Likely) benign	1 lab	3b67c83f6b
9:139410051 NOTCH1 G>A	9	139410051	139410051	G	A	NOTCH1	c.1787C>T	NM_017617.5	NP_060087.3:p.(Thr596Met)	NC_000009.11:g.139410051G>A	(Likely) benign	1 lab	3b554d6d60
12:48534651 PFKM G>A	12	48534651	48534651	G	A	PFKM	c.1338G>A	NM_000289.6	NP_000280.1:p.(Gly446=)	NC_000012.11:g.48534651G>A	(Likely) benign	1 lab	3b5776870e
22:17565974 IL17RA G>C	22	17565974	17565974	G	C	IL17RA	c.-8G>C	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17565974G>C	(Likely) benign	1 lab	3b58cfd8a9
16:86544379 FOXF1 C>G	16	86544379	86544379	C	G	FOXF1	c.204C>G	NM_001451.3	NP_001442.2:p.(Arg68=)	NC_000016.9:g.86544379C>G	(Likely) benign	1 lab	3b5d07519e
17:38975133 KRT10 T>TGCTGCCGCCGCCGGA	17	38975133	38975157	T	TGCTGCCGCCGCCGGA	KRT10	c.1639_1653dup	NM_000421.5	NP_000412.4:p.(Gly548_Ser552dup)	NC_000017.10:g.38975143_38975157dup	(Likely) benign	1 lab	cd8c127b10
12:6443010 TNFRSF1A C>G	12	6443010	6443010	C	G	TNFRSF1A	c.215G>C	NM_001065.3	NP_001056.1:p.(Cys72Ser)	NC_000012.11:g.6443010C>G	(Likely) pathogenic	1 lab	3b5fa88c85
1:247592999 NLRP3 G>A	1	247592999	247592999	G	A	NLRP3	c.2263G>A	NM_001243133.2	NP_001230062.1:p.(Gly755Arg)	NC_000001.10:g.247592999G>A	(Likely) pathogenic	1 lab	3b64d7cf93
22:35785936 HMOX1 G>A	22	35785936	35785936	G	A	HMOX1	c.716G>A	NM_002133.3	NP_002124.1:p.(Arg239Gln)	NC_000022.10:g.35785936G>A	(Likely) benign	1 lab	3b653659fc
9:32492555 RIGI G>C	9	32492555	32492555	G	C	RIGI	c.424-19C>G	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32492555G>C	(Likely) benign	1 lab	3b656702d2
18:19019473 GREB1L G>A	18	19019473	19019473	G	A	GREB1L	c.833-9G>A	NM_001142966.2	NP_001136438.1:p.?	NC_000018.9:g.19019473G>A	(Likely) benign	1 lab	3b69617af3
14:105849810 PACS2 C>T	14	105849810	105849810	C	T	PACS2	c.1740C>T	NM_001100913.3	NP_001094383.2:p.(Pro580=)	NC_000014.8:g.105849810C>T	(Likely) benign	1 lab	cd927f3bf4
4:187628027 FAT1 G>A	4	187628027	187628027	G	A	FAT1	c.2955C>T	NM_005245.4	NP_005236.2:p.(Ile985=)	NC_000004.11:g.187628027G>A	(Likely) benign	1 lab	3b6bd4acbe
9:138647028 KCNT1 C>T	9	138647028	138647028	C	T	KCNT1	c.540+13C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138647028C>T	(Likely) benign	1 lab	3b6c52b7ca
2:166187943 SCN2A T>C	2	166187943	166187943	T	C	SCN2A	c.2253T>C	NM_021007.3	NP_066287.2:p.(Leu751=)	NC_000002.11:g.166187943T>C	(Likely) benign	1 lab	3b6d03ec63
10:96066230 PLCE1 C>T	10	96066230	96066230	C	T	PLCE1	c.5669C>T	NM_016341.3	NP_057425.3:p.(Pro1890Leu)	NC_000010.10:g.96066230C>T	(Likely) benign	1 lab	3b723fd75d
11:118922603 HYOU1 C>T	11	118922603	118922603	C	T	HYOU1	c.1266G>A	NM_006389.5	NP_006380.1:p.(Gln422=)	NC_000011.9:g.118922603C>T	(Likely) benign	1 lab	3b744d3ee7
19:7712291 STXBP2 G>A	19	7712291	7712291	G	A	STXBP2	c.1590G>A	NM_006949.2	NP_008880.2:p.(Ala530=)	NC_000019.9:g.7712291G>A	(Likely) benign	1 lab	3b74b671d5
17:78172328 CARD14 C>T	17	78172328	78172328	C	T	CARD14	c.1789C>T	NM_024110.4	NP_077015.2:p.(Arg597Trp)	NC_000017.10:g.78172328C>T	(Likely) benign	1 lab	3b90ae0a0d
18:59774037 PIGN C>T	18	59774037	59774037	C	T	PIGN	c.1752G>A	NM_176787.4	NP_789744.1:p.(Leu584=)	NC_000018.9:g.59774037C>T	(Likely) benign	1 lab	3b92d640b1
6:151743658 RMND1 T>A	6	151743658	151743658	T	A	RMND1	c.1002+18A>T	NM_017909.4	NP_060379.2:p.?	NC_000006.11:g.151743658T>A	(Likely) benign	1 lab	3b965f1db2
2:166848723 SCN1A C>T	2	166848723	166848723	C	T	SCN1A	c.5062G>A	NM_001165963.3	NP_001159435.1:p.(Gly1688Arg)	NC_000002.11:g.166848723C>T	(Likely) pathogenic	1 lab	3b9cbca360
8:48767923 PRKDC T>C	8	48767923	48767923	T	C	PRKDC	c.6621A>G	NM_006904.6	NP_008835.5:p.(Lys2207=)	NC_000008.10:g.48767923T>C	(Likely) benign	1 lab	3ba321c672
2:26508421 HADHB G>A	2	26508421	26508421	G	A	HADHB	c.1371G>A	NM_000183.3	NP_000174.1:p.(Ala457=)	NC_000002.11:g.26508421G>A	(Likely) benign	1 lab	3ba4405581
7:94030856 COL1A2 A>ATT	7	94030856	94030868	A	ATT	COL1A2	c.226-12_226-11dup	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94030867_94030868dup	(Likely) benign	1 lab	3ba715f6b8
8:41547980 ANK1 G>A	8	41547980	41547980	G	A	ANK1	c.3984+12C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41547980G>A	(Likely) benign	1 lab	3ba748b8e4
6:32947602 BRD2 T>C	6	32947602	32947602	T	C	BRD2	c.1947-3T>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32947602T>C	(Likely) benign	1 lab	3ba78ce6fc
22:51018646 CHKB TCCA>T	22	51018646	51018652	TCCA	T	CHKB	c.788_790del	NM_005198.5	NP_005189.2:p.(Val263del)	NC_000022.10:g.51018650_51018652del	VUS	1 lab	cd98d9ab46
14:105167919 INF2 G>T	14	105167919	105167919	G	T	INF2	c.217G>T	NM_022489.3	NP_071934.3:p.(Gly73Cys)	NC_000014.8:g.105167919G>T	(Likely) pathogenic	1 lab	3ba8b8fe75
2:216240365 FN1 G>A	2	216240365	216240365	G	A	FN1	c.5964C>T	NM_212482.2	NP_997647.1:p.(Ile1988=)	NC_000002.11:g.216240365G>A	(Likely) benign	1 lab	3bae6fdf80
X:119676907 CUL4B A>G	X	119676907	119676907	A	G	CUL4B	c.1311-19T>C	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119676907A>G	(Likely) benign	1 lab	3bb42e2bc6
17:45811146 TBX21 C>G	17	45811146	45811146	C	G	TBX21	c.326C>G	NM_013351.2	NP_037483.1:p.(Ala109Gly)	NC_000017.10:g.45811146C>G	(Likely) benign	1 lab	3bb4533c0b
15:43531432 TGM5 G>A	15	43531432	43531432	G	A	TGM5	c.1034C>T	NM_201631.4	NP_963925.2:p.(Ala345Val)	NC_000015.9:g.43531432G>A	VUS	1 lab	cd99ab31d6
4:79239998 FRAS1 C>T	4	79239998	79239998	C	T	FRAS1	c.1995C>T	NM_025074.7	NP_079350.5:p.(Pro665=)	NC_000004.11:g.79239998C>T	(Likely) benign	1 lab	3bb815fad6
13:100920993 PCCA C>T	13	100920993	100920993	C	T	PCCA	c.870C>T	NM_000282.4	NP_000273.2:p.(Cys290=)	NC_000013.10:g.100920993C>T	(Likely) benign	1 lab	3bb9840407
20:44054436 PIGT C>T	20	44054436	44054436	C	T	PIGT	c.1707C>T	NM_015937.6	NP_057021.2:p.(Ile569=)	NC_000020.10:g.44054436C>T	(Likely) benign	1 lab	3bbb343756
9:94519745 ROR2 G>A	9	94519745	94519745	G	A	ROR2	c.272C>T	NM_004560.4	NP_004551.2:p.(Pro91Leu)	NC_000009.11:g.94519745G>A	VUS	1 lab	cdb4c82b21
13:23905116 SACS A>T	13	23905116	23905116	A	T	SACS	c.12899T>A	NM_014363.6	NP_055178.3:p.(Val4300Asp)	NC_000013.10:g.23905116A>T	(Likely) benign	1 lab	3bc4aedcea
17:7806600 CHD3 G>A	17	7806600	7806600	G	A	CHD3	c.3683G>A	NM_001005271.3	NP_001005271.2:p.(Arg1228Gln)	NC_000017.10:g.7806600G>A	(Likely) pathogenic	1 lab	3bc5d7bd37
8:96264450 CFAP418 T>G	8	96264450	96264450	T	G	CFAP418	c.436A>C	NM_177965.4	NP_808880.1:p.(Met146Leu)	NC_000008.10:g.96264450T>G	(Likely) benign	1 lab	3bc609c919
15:48808437 FBN1 G>T	15	48808437	48808437	G	T	FBN1	c.1270C>A	NM_000138.4	NP_000129.3:p.(Gln424Lys)	NC_000015.9:g.48808437G>T	VUS	1 lab	3bc974d142
10:117884714 GFRA1 C>G	10	117884714	117884714	C	G	GFRA1	c.770+18G>C	NM_005264.6	NP_005255.1:p.?	NC_000010.10:g.117884714C>G	(Likely) benign	1 lab	3bcaede6db
14:67567642 GPHN GC>G	14	67567642	67567644	GC	G	GPHN	c.1293+16del	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67567644del	(Likely) benign	1 lab	3bcda8eb1f
9:138642897 KCNT1 G>A	9	138642897	138642897	G	A	KCNT1	c.434+10G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138642897G>A	(Likely) benign	1 lab	3bd46aa0d6
11:6629376 ILK A>C	11	6629376	6629376	A	C	ILK	c.190A>C	NM_001014795.3	NP_001014795.1:p.(Asn64His)	NC_000011.9:g.6629376A>C	VUS	1 lab	3bd71e6332
10:90770295 FAS G>T	10	90770295	90770295	G	T	FAS	c.444-1G>T	NM_000043.4	NP_000034.1:p.?	NC_000010.10:g.90770295G>T	(Likely) pathogenic	1 lab	3bd97a809a
14:65259621 SPTB C>A	14	65259621	65259621	C	A	SPTB	c.2666+94G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65259621C>A	(Likely) benign	1 lab	3be62292bb
18:29126577 DSG2 G>A	18	29126577	29126577	G	A	DSG2	c.3228G>A	NM_001943.3	NP_001934.2:p.(Val1076=)	NC_000018.9:g.29126577G>A	(Likely) benign	1 lab	3be702fead
16:2160026 PKD1 G>A	16	2160026	2160026	G	A	PKD1	c.5142C>T	NM_001009944.2	NP_001009944.2:p.(Phe1714=)	NC_000016.9:g.2160026G>A	(Likely) benign	1 lab	3be8d13d0f
22:23915620 IGLL1 C>T	22	23915620	23915620	C	T	IGLL1				NC_000022.10:g.23915620C>T	(Likely) benign	1 lab	3d36db06a2
2:166020181 SCN3A G>A	2	166020181	166020181	G	A	SCN3A	c.641C>T	NM_006922.4	NP_008853.3:p.(Ala214Val)	NC_000002.11:g.166020181G>A	(Likely) benign	1 lab	3bee211beb
3:160003622 IFT80 C>T	3	160003622	160003622	C	T	IFT80	c.1350G>A	NM_020800.3	NP_065851.1:p.(Pro450=)	NC_000003.11:g.160003622C>T	(Likely) benign	1 lab	3bf1798b1a
1:55472856 BSND C>T	1	55472856	55472856	C	T	BSND	c.459C>T	NM_057176.3	NP_476517.1:p.(Asp153=)	NC_000001.10:g.55472856C>T	(Likely) benign	1 lab	3bf37c3428
22:44495953 PARVB A>G	22	44495953	44495953	A	G	PARVB	c.322A>G	NM_001003828.2	NP_001003828.1:p.(Met108Val)	NC_000022.10:g.44495953A>G	(Likely) benign	1 lab	3bf76c0e2e
9:396805 DOCK8 C>T	9	396805	396805	C	T	DOCK8	c.2991C>T	NM_203447.3	NP_982272.2:p.(His997=)	NC_000009.11:g.396805C>T	(Likely) benign	1 lab	3bf7ec7453
17:40843958 CNTNAP1 G>A	17	40843958	40843958	G	A	CNTNAP1	c.2479G>A	NM_003632.3	NP_003623.1:p.(Gly827Arg)	NC_000017.10:g.40843958G>A	VUS	1 lab	cd9c493364
1:160324095 NCSTN GCCCTGCA>G	1	160324095	160324106	GCCCTGCA	G	NCSTN	c.1352+20_1352+26del	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160324100_160324106del	(Likely) benign	1 lab	3c019c5c0e
5:137206534 MYOT C>T	5	137206534	137206534	C	T	MYOT	c.194C>T	NM_006790.2	NP_006781.1:p.(Ser65Phe)	NC_000005.9:g.137206534C>T	VUS	1 lab	3c049fb565
22:37163833 IFT27 G>A	22	37163833	37163833	G	A	IFT27	c.105C>T	NM_006860.5	NP_006851.1:p.(Tyr35=)	NC_000022.10:g.37163833G>A	(Likely) benign	1 lab	3c057b8563
X:153136435 L1CAM C>T	X	153136435	153136435	C	T	L1CAM	c.524-20G>A	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153136435C>T	(Likely) benign	1 lab	3c0bc12910
2:179418059 TTN A>G	2	179418059	179418059	A	G	TTN	c.62748T>C	NM_133432.3	NP_597676.3:p.(Asp20916=)	NC_000002.11:g.179418059A>G	(Likely) benign	1 lab	3c0d18ec17
22:50904705 SBF1 G>A	22	50904705	50904705	G	A	SBF1	c.789-18C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50904705G>A	(Likely) benign	1 lab	3c105ae53c
X:154091387 F8 C>A	X	154091387	154091387	C	A	F8	c.6545G>T	NM_000132.3	NP_000123.1:p.(Arg2182Leu)	NC_000023.10:g.154091387C>A	(Likely) pathogenic	1 lab	3c11fb86dd
19:48639304 LIG1 C>A	19	48639304	48639304	C	A	LIG1	c.1407G>T	NM_001320970.2	NP_001307899.1:p.(Thr469=)	NC_000019.9:g.48639304C>A	(Likely) benign	1 lab	3c14f550e6
9:14747157 FREM1 A>C	9	14747157	14747157	A	C	FREM1	c.6009+105T>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14747157A>C	(Likely) benign	1 lab	3c1517a515
X:128948788 ZDHHC9 G>A	X	128948788	128948788	G	A	ZDHHC9	c.488-17C>T	NM_001008222.3	NP_001008223.1:p.?	NC_000023.10:g.128948788G>A	(Likely) benign	1 lab	3c15402ce2
12:110024571 MVK G>A	12	110024571	110024571	G	A	MVK	c.644G>A	NM_000431.2	NP_000422.1:p.(Arg215Gln)	NC_000012.11:g.110024571G>A	(Likely) pathogenic	1 lab	3c1e08c3d3
1:183532590 NCF2 C>T	1	183532590	183532590	C	T	NCF2	c.1157G>A	NM_001127651.3	NP_001121123.1:p.(Arg386Gln)	NC_000001.10:g.183532590C>T	(Likely) benign	1 lab	3c1fe59487
22:17589246 IL17RA G>A	22	17589246	17589246	G	A	IL17RA	c.1137G>A	NM_014339.6	NP_055154.3:p.(Lys379=)	NC_000022.10:g.17589246G>A	(Likely) benign	1 lab	3c22f359f1
1:29442291 EPB41 C>T	1	29442291	29442291	C	T	EPB41	c.1908C>T	NM_203342.2	NP_976217.1:p.(Thr636=)	NC_000001.10:g.29442291C>T	(Likely) benign	1 lab	3c24fab403
12:6439910 TNFRSF1A G>A	12	6439910	6439910	G	A	TNFRSF1A	c.626-33C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6439910G>A	(Likely) benign	1 lab	3c2e791d0b
19:50917091 POLD1 G>GGT	19	50917091	50917095	G	GGT	POLD1	c.2346_2347dup	NM_002691.4	NP_002682.2:p.(Ser783CysfsTer106)	NC_000019.9:g.50917094_50917095dup	VUS	1 lab	cda3eafe22
2:179604216 TTN CA>C	2	179604216	179604217	CA	C	TTN	c.13743del	NM_001267550.2	NP_001254479.2:p.(Glu4582LysfsTer10)	NC_000002.11:g.179604217del	(Likely) pathogenic	1 lab	3c37eacc81
16:15809039 MYH11 G>A	16	15809039	15809039	G	A	MYH11	c.5616C>T	NM_001040113.2	NP_001035202.1:p.(Ala1872=)	NC_000016.9:g.15809039G>A	(Likely) benign	1 lab	3c390b090e
17:37821664 TCAP C>T	17	37821664	37821664	C	T	TCAP	c.52C>T	NM_003673.3	NP_003664.1:p.(Arg18Trp)	NC_000017.10:g.37821664C>T	VUS	1 lab	3c395d3026
16:70302279 AARS1 A>G	16	70302279	70302279	A	G	AARS1	c.966T>C	NM_001605.2	NP_001596.2:p.(Tyr322=)	NC_000016.9:g.70302279A>G	(Likely) benign	1 lab	3c3e2903c0
22:32218744 DEPDC5 T>C	22	32218744	32218744	T	C	DEPDC5	c.2072T>C	NM_001242896.3	NP_001229825.1:p.(Leu691Pro)	NC_000022.10:g.32218744T>C	(Likely) benign	1 lab	3c4616dff3
16:2569712 ATP6V0C G>T	16	2569712	2569712	G	T	ATP6V0C	c.434G>T	NM_001198569.2	NP_001185498.1:p.(Gly145Val)	NC_000016.9:g.2569712G>T	(Likely) pathogenic	1 lab	cda4e34d3c
2:47288090 TTC7A G>A	2	47288090	47288090	G	A	TTC7A	c.2335G>A	NM_020458.4	NP_065191.2:p.(Val779Met)	NC_000002.11:g.47288090G>A	(Likely) benign	1 lab	3c4a9fc588
16:89616790 SPG7 G>A	16	89616790	89616790	G	A	SPG7	c.1664-112G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89616790G>A	(Likely) benign	1 lab	3c4d8fb486
2:149221327 MBD5 G>A	2	149221327	149221327	G	A	MBD5	c.236G>A	NM_018328.4	NP_060798.2:p.(Gly79Glu)	NC_000002.11:g.149221327G>A	(Likely) benign	1 lab	3c4ef15139
9:131284999 GLE1 C>T	9	131284999	131284999	C	T	GLE1	c.485C>T	NM_001003722.1	NP_001003722.1:p.(Ser162Leu)	NC_000009.11:g.131284999C>T	VUS	1 lab	3c4f98b3e6
8:144998131 PLEC C>T	8	144998131	144998131	C	T	PLEC	c.6377G>A	NM_201380.4	NP_958782.1:p.(Arg2126His)	NC_000008.10:g.144998131C>T	VUS	1 lab	3c52ba1136
16:3297062 MEFV C>T	16	3297062	3297062	C	T	MEFV	c.1541G>A	NM_000243.2	NP_000234.1:p.(Gly514Glu)	NC_000016.9:g.3297062C>T	VUS	1 lab	3c57307133
4:3149893 HTT G>A	4	3149893	3149893	G	A	HTT	c.3463G>A	NM_002111.8	NP_002102.4:p.(Ala1155Thr)	NC_000004.11:g.3149893G>A	VUS	1 lab	cda84b6ec6
9:137721808 COL5A1 C>T	9	137721808	137721808	C	T	COL5A1	c.5068-14C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137721808C>T	(Likely) benign	1 lab	3c58ed8a16
2:166183301 SCN2A A>G	2	166183301	166183301	A	G	SCN2A	c.2017-61A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183301A>G	(Likely) benign	1 lab	3c5d1651b7
X:154159093 F8 A>T	X	154159093	154159093	A	T	F8	c.2972T>A	NM_000132.3	NP_000123.1:p.(Leu991Ter)	NC_000023.10:g.154159093A>T	(Likely) pathogenic	1 lab	3c5d1ccac2
13:52518297 ATP7B T>G	13	52518297	52518297	T	G	ATP7B	c.3191A>C	NM_000053.4	NP_000044.2:p.(Glu1064Ala)	NC_000013.10:g.52518297T>G	(Likely) pathogenic	1 lab	3c69e4fa8a
8:68536529 CPA6 T>C	8	68536529	68536529	T	C	CPA6	c.117-43A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68536529T>C	(Likely) benign	1 lab	3c73e8ab3d
3:164748665 SI C>CA	3	164748665	164748678	C	CA	SI	c.2737-11dup	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164748678dup	(Likely) benign	1 lab	3c7516e249
19:42931185 LIPE C>T	19	42931185	42931185	C	T	LIPE	c.117G>A	NM_005357.4	NP_005348.2:p.(Ser39=)	NC_000019.9:g.42931185C>T	(Likely) benign	1 lab	3c755a100c
2:233990592 INPP5D A>C	2	233990592	233990592	A	C	INPP5D	c.487A>C	NM_001017915.3	NP_001017915.1:p.(Thr163Pro)	NC_000002.11:g.233990592A>C	(Likely) benign	1 lab	3c755bf4a1
2:166905284 SCN1A G>T	2	166905284	166905284	G	T	SCN1A	c.1028+112C>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166905284G>T	(Likely) benign	1 lab	3c7895593d
16:2125816 TSC2 G>A	16	2125816	2125816	G	A	TSC2	c.2562G>A	NM_000548.3	NP_000539.2:p.(Pro854=)	NC_000016.9:g.2125816G>A	(Likely) benign	1 lab	3c7b10045e
1:59142629 MYSM1 G>A	1	59142629	59142629	G	A	MYSM1	c.1359C>T	NM_001085487.3	NP_001078956.1:p.(Leu453=)	NC_000001.10:g.59142629G>A	(Likely) benign	1 lab	3c7c2e2a02
2:227976584 COL4A4 G>A	2	227976584	227976584	G	A	COL4A4	c.559-155C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227976584G>A	(Likely) benign	1 lab	3c7c9a563e
1:200080463 NR5A2 CCA>C	1	200080463	200080465	CCA	C	NR5A2	c.1230+15_1230+16del	NM_205860.3	NP_995582.1:p.?	NC_000001.10:g.200080464_200080465del	(Likely) benign	1 lab	3c80621d0b
19:13366047 CACNA1A G>A	19	13366047	13366047	G	A	CACNA1A	c.4629C>T	NM_023035.3	NP_075461.2:p.(Ser1543=)	NC_000019.9:g.13366047G>A	(Likely) benign	1 lab	3c838aecb5
8:145542158 DGAT1 C>A	8	145542158	145542158	C	A	DGAT1	c.540G>T	NM_012079.6	NP_036211.2:p.(Ala180=)	NC_000008.10:g.145542158C>A	(Likely) benign	1 lab	3c863c0cf3
5:37045655 NIPBL C>T	5	37045655	37045655	C	T	NIPBL	c.6454C>T	NM_133433.4	NP_597677.2:p.(Arg2152Trp)	NC_000005.9:g.37045655C>T	VUS	1 lab	cdac391da8
2:179539083 TTN GTTC>G	2	179539083	179539090	GTTC	G	TTN	c.34663_34665del	NM_001267550.2	NP_001254479.2:p.(Glu11555del)	NC_000002.11:g.179539088_179539090del	(Likely) benign	1 lab	3c88019369
11:108205565 ATM T>C	11	108205565	108205565	T	C	ATM	c.8011-131T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205565T>C	(Likely) benign	1 lab	3c880b8f04
2:179528618 TTN A>C	2	179528618	179528618	A	C	TTN	c.36376T>G	NM_001267550.1	NP_001254479.1:p.(Ser12126Ala)	NC_000002.11:g.179528618A>C	VUS	1 lab	3c88b2a73f
2:29456502 ALK G>A	2	29456502	29456502	G	A	ALK	c.2416C>T	NM_004304.5	NP_004295.2:p.(Arg806Cys)	NC_000002.11:g.29456502G>A	VUS	1 lab	cdac60ad00
2:220285088 DES C>A	2	220285088	220285088	C	A	DES	c.735+20C>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220285088C>A	(Likely) benign	1 lab	3c9df10a86
12:6442635 TNFRSF1A C>T	12	6442635	6442635	C	T	TNFRSF1A	c.370G>A	NM_001065.3	NP_001056.1:p.(Val124Met)	NC_000012.11:g.6442635C>T	VUS	1 lab	3c9e947d35
X:107930850 COL4A5 G>T	X	107930850	107930850	G	T	COL4A5	c.4436G>T	NM_000495.5	NP_000486.1:p.(Gly1479Val)	NC_000023.10:g.107930850G>T	(Likely) pathogenic	1 lab	3c9f5ea241
X:153608648 EMD A>T	X	153608648	153608648	A	T	EMD	c.320A>T	NM_000117.2	NP_000108.1:p.(Glu107Val)	NC_000023.10:g.153608648A>T	VUS	1 lab	3ca0ee97b0
1:179526186 NPHS2 C>A	1	179526186	179526186	C	A	NPHS2	c.714G>T	NM_014625.3	NP_055440.1:p.(Arg238Ser)	NC_000001.10:g.179526186C>A	(Likely) pathogenic	1 lab	3ca5b31450
14:77493755 IRF2BPL CTGT>C	14	77493755	77493763	CTGT	C	IRF2BPL	c.378_380del	NM_024496.4	NP_078772.1:p.(Gln127del)	NC_000014.8:g.77493761_77493763del	(Likely) benign	1 lab	cdac94e1be
9:131671049 LRRC8A G>A	9	131671049	131671049	G	A	LRRC8A	c.1606G>A	NM_019594.3	NP_062540.2:p.(Val536Ile)	NC_000009.11:g.131671049G>A	(Likely) benign	1 lab	3cb052f291
9:135221579 SETX T>G	9	135221579	135221579	T	G	SETX	c.388+69A>C	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135221579T>G	(Likely) benign	1 lab	3cb1eb7c52
3:9969915 IL17RC C>A	3	9969915	9969915	C	A	IL17RC	c.1090+11C>A	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9969915C>A	(Likely) benign	1 lab	3cb647074c
X:48546687 WAS A>G	X	48546687	48546687	A	G	WAS	c.778-2A>G	NM_000377.2	NP_000368.1:p.?	NC_000023.10:g.48546687A>G	(Likely) pathogenic	1 lab	3cb9f7e65a
1:201332525 TNNT2 C>A	1	201332525	201332525	C	A	TNNT2	c.469G>T	NM_001276347.2	NP_001263276.1:p.(Ala157Ser)	NC_000001.10:g.201332525C>A	VUS	1 lab	3cbaffb9c5
1:1960645 GABRD G>A	1	1960645	1960645	G	A	GABRD	c.787G>A	NM_000815.5	NP_000806.2:p.(Ala263Thr)	NC_000001.10:g.1960645G>A	VUS	1 lab	3cbce3869e
1:196874192 CFHR4 A>G	1	196874192	196874192	A	G	CFHR4	c.257-46A>G	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196874192A>G	(Likely) benign	1 lab	3cbfbebce4
6:18122633 NHLRC1 G>C	6	18122633	18122633	G	C	NHLRC1	c.205C>G	NM_198586.3	NP_940988.2:p.(Pro69Ala)	NC_000006.11:g.18122633G>C	(Likely) pathogenic	1 lab	3ccd767ef3
2:189872295 COL3A1 C>T	2	189872295	189872295	C	T	COL3A1	c.3325C>T	NM_000090.3	NP_000081.1:p.(Arg1109Ter)	NC_000002.11:g.189872295C>T	(Likely) pathogenic	1 lab	3cd0dc2365
19:38935350 RYR1 T>TC	19	38935350	38935356	T	TC	RYR1	c.631+39dup	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38935356dup	(Likely) benign	1 lab	3cd0e86cf8
4:41748001 PHOX2B T>TGCCGCTGCCGCCGCC	4	41748001	41748027	T	TGCCGCTGCCGCCGCC	PHOX2B	c.753_767dup	NM_003924.4	NP_003915.2:p.(Ala256_Ala260dup)	NC_000004.11:g.41748013_41748027dup	(Likely) pathogenic	1 lab	cdb5be4c76
2:220299852 SPEG C>T	2	220299852	220299852	C	T	SPEG	c.153C>T	NM_005876.5	NP_005867.3:p.(Asn51=)	NC_000002.11:g.220299852C>T	(Likely) benign	1 lab	3cd7e33bce
13:48947629 RB1 G>A	13	48947629	48947629	G	A	RB1	c.1215+1G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48947629G>A	(Likely) pathogenic	1 lab	cdb711505c
6:149700243 TAB2 G>A	6	149700243	149700243	G	A	TAB2	c.1192G>A	NM_015093.5	NP_055908.1:p.(Glu398Lys)	NC_000006.11:g.149700243G>A	VUS	1 lab	3cda09e25b
1:228548116 OBSCN C>A	1	228548116	228548116	C	A	OBSCN	c.19523C>A	NM_052843.4	NP_443075.3:p.(Thr6508Lys)	NC_000001.10:g.228548116C>A	(Likely) benign	1 lab	3ce4f4f8ba
10:27333102 ANKRD26 G>A	10	27333102	27333102	G	A	ANKRD26	c.2003C>T	NM_014915.2	NP_055730.2:p.(Ser668Phe)	NC_000010.10:g.27333102G>A	(Likely) benign	1 lab	3ce85e9d68
2:179501311 TTN C>G	2	179501311	179501311	C	G	TTN	c.14323G>C	NM_133432.3	NP_597676.3:p.(Ala4775Pro)	NC_000002.11:g.179501311C>G	VUS	1 lab	3cefac9ea7
1:158626459 SPTA1 A>C	1	158626459	158626459	A	C	SPTA1	c.2806-13T>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158626459A>C	(Likely) pathogenic	1 lab	3cf7406dd4
2:166854544 SCN1A T>G	2	166854544	166854544	T	G	SCN1A	c.4476+4A>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166854544T>G	(Likely) benign	1 lab	3cfa892478
9:130588801 ENG G>A	9	130588801	130588801	G	A	ENG	c.511C>T	NM_000118.3	NP_000109.1:p.(Arg171Ter)	NC_000009.11:g.130588801G>A	(Likely) pathogenic	1 lab	3cfaf1b4b4
15:80445292 FAH G>C	15	80445292	80445292	G	C	FAH				NC_000015.9:g.80445292G>C	(Likely) benign	1 lab	3d07c4d30d
10:72628170 SGPL1 G>C	10	72628170	72628170	G	C	SGPL1	c.684G>C	NM_003901.4	NP_003892.2:p.(Lys228Asn)	NC_000010.10:g.72628170G>C	(Likely) benign	1 lab	3d08b6682e
2:152698520 CACNB4 C>T	2	152698520	152698520	C	T	CACNB4	c.1199G>A	NM_000726.4	NP_000717.2:p.(Arg400His)	NC_000002.11:g.152698520C>T	(Likely) benign	1 lab	3d091a4d06
X:154185335 F8 C>T	X	154185335	154185335	C	T	F8	c.1649G>A	NM_000132.3	NP_000123.1:p.(Arg550His)	NC_000023.10:g.154185335C>T	(Likely) pathogenic	1 lab	3d0d6bdbeb
22:17688118 ADA2 T>G	22	17688118	17688118	T	G	ADA2	c.385A>C	NM_001282225.2	NP_001269154.1:p.(Thr129Pro)	NC_000022.10:g.17688118T>G	(Likely) pathogenic	1 lab	3d0dadc471
5:60831405 ZSWIM6 C>T	5	60831405	60831405	C	T	ZSWIM6	c.2340C>T	NM_020928.2	NP_065979.1:p.(His780=)	NC_000005.9:g.60831405C>T	(Likely) benign	1 lab	3d0f00c9fe
9:6535975 GLDC G>T	9	6535975	6535975	G	T	GLDC	c.2838+89C>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6535975G>T	(Likely) benign	1 lab	3d0fce9b98
3:190374214 IL1RAP C>T	3	190374214	190374214	C	T	IL1RAP	c.1882C>T	NM_001167931.2	NP_001161403.1:p.(Arg628Trp)	NC_000003.11:g.190374214C>T	(Likely) benign	1 lab	3d103edf35
10:112572330 RBM20 G>A	10	112572330	112572330	G	A	RBM20	c.2175G>A	NM_001134363.1	NP_001127835.1:p.(Glu725=)	NC_000010.10:g.112572330G>A	(Likely) benign	1 lab	3d20b4a758
22:40814708 MRTFA C>T	22	40814708	40814708	C	T	MRTFA	c.2034G>A	NM_001282662.3	NP_001269591.2:p.(Glu678=)	NC_000022.10:g.40814708C>T	(Likely) benign	1 lab	3d2243ed8f
15:57924620 MYZAP GTC>G	15	57924620	57924624	GTC	G	MYZAP	c.679-9_679-8del	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57924623_57924624del	VUS	1 lab	3d2415a741
1:108160260 VAV3 GA>G	1	108160260	108160272	GA	G	VAV3	c.1915-7del	NM_006113.5	NP_006104.4:p.?	NC_000001.10:g.108160272del	(Likely) benign	1 lab	3d2697fe1b
X:53279486 IQSEC2 G>A	X	53279486	53279486	G	A	IQSEC2	c.2272C>T	NM_001111125.3	NP_001104595.1:p.(Arg758Ter)	NC_000023.10:g.53279486G>A	(Likely) pathogenic	1 lab	3d28136e87
1:247588189 NLRP3 A>T	1	247588189	247588189	A	T	NLRP3	c.1438A>T	NM_001243133.2	NP_001230062.1:p.(Ile480Phe)	NC_000001.10:g.247588189A>T	(Likely) pathogenic	1 lab	3d28cb8a11
5:40959599 C7 T>G	5	40959599	40959599	T	G	C7	c.1538T>G	NM_000587.2	NP_000578.2:p.(Val513Gly)	NC_000005.9:g.40959599T>G	(Likely) benign	1 lab	3d2d1caccc
2:220149451 DNAJB2 C>A	2	220149451	220149451	C	A	DNAJB2	c.717C>A	NM_006736.6	NP_006727.2:p.(Thr239=)	NC_000002.11:g.220149451C>A	(Likely) benign	1 lab	3d2f0da943
5:127800402 FBN2 A>C	5	127800402	127800402	A	C	FBN2	c.826+15T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800402A>C	(Likely) benign	1 lab	3d33bc4266
6:32939696 BRD2 T>G	6	32939696	32939696	T	G	BRD2	c.-980T>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32939696T>G	(Likely) benign	1 lab	3d345043d2
10:67726373 CTNNA3 T>C	10	67726373	67726373	T	C	CTNNA3	c.2397A>G	NM_013266.4	NP_037398.2:p.(Ser799=)	NC_000010.10:g.67726373T>C	(Likely) benign	1 lab	3d36ba1d8d
X:15339663 PIGA C>T	X	15339663	15339663	C	T	PIGA	c.1420G>A	NM_002641.3	NP_002632.1:p.(Gly474Arg)	NC_000023.10:g.15339663C>T	(Likely) benign	1 lab	3d385c972f
3:10280460 IRAK2 A>G	3	10280460	10280460	A	G	IRAK2	c.1502A>G	NM_001570.4	NP_001561.3:p.(Glu501Gly)	NC_000003.11:g.10280460A>G	(Likely) benign	1 lab	3d3e903db9
9:126129652 CRB2 G>C	9	126129652	126129652	G	C	CRB2	c.940+16G>C	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126129652G>C	(Likely) benign	1 lab	3d420b7fb0
11:32452032 WT1 G>C	11	32452032	32452032	G	C	WT1				NC_000011.9:g.32452032G>C	(Likely) benign	1 lab	438e1dd794
20:62069977 KCNQ2 C>A	20	62069977	62069977	C	A	KCNQ2	c.1023+1G>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62069977C>A	(Likely) pathogenic	1 lab	3d488e714d
19:11244187 LDLR TTA>T	19	11244187	11244203	TTA	T	LDLR	c.*2210_*2211del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11244202_11244203del	(Likely) benign	1 lab	3d4924b2ad
8:48882464 MCM4 A>G	8	48882464	48882464	A	G	MCM4	c.1281A>G	NM_005914.4	NP_005905.2:p.(Lys427=)	NC_000008.10:g.48882464A>G	(Likely) benign	1 lab	3d4d5329c3
2:74593710 DCTN1 G>A	2	74593710	74593710	G	A	DCTN1	c.2504C>T	NM_004082.5	NP_004073.2:p.(Thr835Met)	NC_000002.11:g.74593710G>A	VUS	1 lab	cdb9c7badc
13:110859059 COL4A1 T>C	13	110859059	110859059	T	C	COL4A1	c.811A>G	NM_001845.6	NP_001836.3:p.(Met271Val)	NC_000013.10:g.110859059T>C	(Likely) benign	1 lab	3d55b8c188
20:61982390 CHRNA4 A>C	20	61982390	61982390	A	C	CHRNA4	c.384-11T>G	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61982390A>C	(Likely) benign	1 lab	3d598d9378
5:916025 TRIP13 C>T	5	916025	916025	C	T	TRIP13	c.1140C>T	NM_004237.4	NP_004228.1:p.(Ser380=)	NC_000005.9:g.916025C>T	(Likely) benign	1 lab	3d61f15004
18:52899700 TCF4 T>A	18	52899700	52899700	T	A	TCF4	c.1649+40A>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52899700T>A	(Likely) benign	1 lab	3d635b9cb9
1:247588376 NLRP3 C>T	1	247588376	247588376	C	T	NLRP3	c.1625C>T	NM_001243133.2	NP_001230062.1:p.(Thr542Met)	NC_000001.10:g.247588376C>T	(Likely) pathogenic	1 lab	3d63c215da
11:117869660 IL10RA G>A	11	117869660	117869660	G	A	IL10RA	c.1041G>A	NM_001558.3	NP_001549.2:p.(Thr347=)	NC_000011.9:g.117869660G>A	(Likely) benign	1 lab	3d64cfc3be
16:31500501 SLC5A2 G>A	16	31500501	31500501	G	A	SLC5A2	c.1507G>A	NM_003041.4	NP_003032.1:p.(Glu503Lys)	NC_000016.9:g.31500501G>A	(Likely) pathogenic	1 lab	3d66d55400
1:29379639 EPB41 C>T	1	29379639	29379639	C	T	EPB41	c.1033C>T	NM_004437.4	NP_004428.1:p.(Arg345Ter)	NC_000001.10:g.29379639C>T	(Likely) pathogenic	1 lab	3d6763ed9a
2:65245352 SLC1A4 G>A	2	65245352	65245352	G	A	SLC1A4	c.1182G>A	NM_003038.5	NP_003029.2:p.(Ala394=)	NC_000002.11:g.65245352G>A	(Likely) benign	1 lab	3d686234c2
17:70119972 SOX9 C>T	17	70119972	70119972	C	T	SOX9	c.974C>T	NM_000346.4	NP_000337.1:p.(Ala325Val)	NC_000017.10:g.70119972C>T	VUS	1 lab	cdbaf18055
2:238449126 MLPH G>C	2	238449126	238449126	G	C	MLPH	c.1240G>C	NM_024101.5	NP_077006.1:p.(Glu414Gln)	NC_000002.11:g.238449126G>C	(Likely) benign	1 lab	3d6a20c71d
1:205768188 SLC41A1 G>A	1	205768188	205768188	G	A	SLC41A1	c.594C>T	NM_173854.6	NP_776253.3:p.(Ala198=)	NC_000001.10:g.205768188G>A	(Likely) benign	1 lab	3d6b1fd123
1:6012746 NPHP4 T>G	1	6012746	6012746	T	G	NPHP4	c.810+14A>C	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6012746T>G	(Likely) benign	1 lab	3d6cd3df07
20:61982434 CHRNA4 C>T	20	61982434	61982434	C	T	CHRNA4	c.384-55G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61982434C>T	(Likely) benign	1 lab	3d73390150
9:138662989 KCNT1 G>A	9	138662989	138662989	G	A	KCNT1	c.2008+48G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662989G>A	(Likely) benign	1 lab	3d7442785e
15:43493961 EPB42 A>T	15	43493961	43493961	A	T	EPB42	c.2003+81T>A	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43493961A>T	(Likely) benign	1 lab	3d77bcef35
18:53177742 TCF4 A>G	18	53177742	53177742	A	G	TCF4	c.146-46374T>C	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53177742A>G	(Likely) benign	1 lab	3d787458f3
18:19080000 GREB1L A>G	18	19080000	19080000	A	G	GREB1L	c.3702A>G	NM_001142966.2	NP_001136438.1:p.(Leu1234=)	NC_000018.9:g.19080000A>G	(Likely) benign	1 lab	3d82a39809
2:71191605 ATP6V1B1 G>A	2	71191605	71191605	G	A	ATP6V1B1	c.1181G>A	NM_001692.4	NP_001683.2:p.(Arg394Gln)	NC_000002.11:g.71191605G>A	(Likely) pathogenic	1 lab	3d830545b8
9:6553360 GLDC G>A	9	6553360	6553360	G	A	GLDC	c.2457+8C>T	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6553360G>A	(Likely) benign	1 lab	3d9a3b647f
6:33406392 SYNGAP1 C>T	6	33406392	33406392	C	T	SYNGAP1	c.1531+52C>T	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33406392C>T	(Likely) benign	1 lab	3d845099b4
1:183543653 NCF2 G>A	1	183543653	183543653	G	A	NCF2	c.470C>T	NM_001127651.3	NP_001121123.1:p.(Ser157Phe)	NC_000001.10:g.183543653G>A	(Likely) benign	1 lab	3d892bb400
5:74706870 CERT1 T>A	5	74706870	74706870	T	A	CERT1	c.1280A>T	NM_001130105.1	NP_001123577.1:p.(Lys427Met)	NC_000005.9:g.74706870T>A	VUS	1 lab	cdbba1257b
3:189582140 TP63 A>G	3	189582140	189582140	A	G	TP63	c.693A>G	NM_001329964.1	NP_001316893.1:p.(Lys231=)	NC_000003.11:g.189582140A>G	(Likely) benign	1 lab	3d8a7694be
7:92733649 SAMD9 C>A	7	92733649	92733649	C	A	SAMD9	c.1762G>T	NM_017654.4	NP_060124.2:p.(Asp588Tyr)	NC_000007.13:g.92733649C>A	VUS	1 lab	cdbed131ac
6:145948689 EPM2A A>G	6	145948689	145948689	A	G	EPM2A	c.859T>C	NM_001018041.2	NP_001018051.1:p.(Trp287Arg)	NC_000006.11:g.145948689A>G	(Likely) pathogenic	1 lab	3d8cc356cb
X:48545322 WAS A>G	X	48545322	48545322	A	G	WAS	c.712A>G	NM_000377.2	NP_000368.1:p.(Ile238Val)	NC_000023.10:g.48545322A>G	VUS	1 lab	3d9155f7aa
9:130413851 STXBP1 CCT>C	9	130413851	130413867	CCT	C	STXBP1	c.38-16_38-15del	NM_001032221.6	NP_001027392.1:p.?	NC_000009.11:g.130413866_130413867del	(Likely) benign	1 lab	3da7b80e65
16:89623990 SPG7 C>CCACA	16	89623990	89623993	C	CCACA	SPG7	c.*491_*492insCACA	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89623992_89623993insCACA	(Likely) benign	1 lab	3daaa9b0d3
2:241817472 AGXT G>A	2	241817472	241817472	G	A	AGXT	c.976G>A	NM_000030.3	NP_000021.1:p.(Val326Ile)	NC_000002.11:g.241817472G>A	(Likely) benign	1 lab	3dae33ed2d
1:201023671 CACNA1S C>T	1	201023671	201023671	C	T	CACNA1S	c.3628G>A	NM_000069.3	NP_000060.2:p.(Gly1210Arg)	NC_000001.10:g.201023671C>T	(Likely) benign	1 lab	3db25aaf68
12:52139682 SCN8A T>A	12	52139682	52139682	T	A	SCN8A	c.1999-5T>A	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52139682T>A	(Likely) benign	1 lab	3db32da728
8:17804719 PCM1 A>G	8	17804719	17804719	A	G	PCM1	c.808A>G	NM_006197.4	NP_006188.4:p.(Met270Val)	NC_000008.10:g.17804719A>G	(Likely) benign	1 lab	3db6802cce
2:71744187 DYSF A>G	2	71744187	71744187	A	G	DYSF	c.999+18A>G	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71744187A>G	(Likely) benign	1 lab	3dbd0b21d5
14:50628269 SOS2 G>C	14	50628269	50628269	G	C	SOS2	c.1127C>G	NM_006939.4	NP_008870.2:p.(Thr376Ser)	NC_000014.8:g.50628269G>C	(Likely) pathogenic	1 lab	3dbf1677ff
5:161522443 GABRG2 A>G	5	161522443	161522443	A	G	GABRG2				NC_000005.9:g.161522443A>G	(Likely) benign	1 lab	3dc14af2aa
4:151203671 LRBA G>A	4	151203671	151203671	G	A	LRBA	c.8244C>T	NM_001199282.2	NP_001186211.2:p.(Asn2748=)	NC_000004.11:g.151203671G>A	(Likely) benign	1 lab	3dc3ca3234
8:48697705 PRKDC C>T	8	48697705	48697705	C	T	PRKDC	c.11076G>A	NM_006904.6	NP_008835.5:p.(Val3692=)	NC_000008.10:g.48697705C>T	(Likely) benign	1 lab	3dc86a1489
20:57485860 GNAS C>T	20	57485860	57485860	C	T	GNAS	c.3090C>T	NM_080425.3	NP_536350.2:p.(His1030=)	NC_000020.10:g.57485860C>T	(Likely) benign	1 lab	3dca03fdd8
12:124179766 TCTN2 G>A	12	124179766	124179766	G	A	TCTN2	c.1235-1G>A	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124179766G>A	(Likely) pathogenic	1 lab	3dce3669ca
13:32890626 BRCA2 C>A	13	32890626	32890626	C	A	BRCA2	c.29C>A	NM_000059.3	NP_000050.2:p.(Thr10Lys)	NC_000013.10:g.32890626C>A	VUS	1 lab	3dce394bb6
2:216232579 FN1 T>C	2	216232579	216232579	T	C	FN1	c.7018+7A>G	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216232579T>C	(Likely) benign	1 lab	3dd08eed24
3:49141046 QARS1 G>A	3	49141046	49141046	G	A	QARS1	c.451+18C>T	NM_005051.3	NP_005042.1:p.?	NC_000003.11:g.49141046G>A	(Likely) benign	1 lab	3dd09b2f36
10:14950569 DCLRE1C A>G	10	14950569	14950569	A	G	DCLRE1C	c.1917T>C	NM_001033855.1	NP_001029027.1:p.(Leu639=)	NC_000010.10:g.14950569A>G	(Likely) benign	1 lab	3dd2eee6e4
5:39201920 FYB1 G>T	5	39201920	39201920	G	T	FYB1	c.1135+8C>A	NM_001465.6	NP_001456.3:p.?	NC_000005.9:g.39201920G>T	(Likely) benign	1 lab	3dd45276c5
17:42335197 SLC4A1 G>C	17	42335197	42335197	G	C	SLC4A1	c.1283-22C>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42335197G>C	(Likely) benign	1 lab	3dd6e4edf0
22:32230063 DEPDC5 G>A	22	32230063	32230063	G	A	DEPDC5	c.2170+97G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32230063G>A	(Likely) benign	1 lab	3dd721c940
11:61136107 TMEM138 G>A	11	61136107	61136107	G	A	TMEM138	c.415G>A	NM_016464.5	NP_057548.1:p.(Val139Ile)	NC_000011.9:g.61136107G>A	(Likely) benign	1 lab	3dd95d8f6a
12:11905427 ETV6 G>C	12	11905427	11905427	G	C	ETV6	c.77G>C	NM_001987.4	NP_001978.1:p.(Ser26Thr)	NC_000012.11:g.11905427G>C	(Likely) benign	1 lab	3dda0d7261
2:24431127 ITSN2 T>G	2	24431127	24431127	T	G	ITSN2	c.4615A>C	NM_001348181.2	NP_001335110.1:p.(Lys1539Gln)	NC_000002.11:g.24431127T>G	(Likely) benign	1 lab	3dde8ea094
X:25013986 POLA1 A>G	X	25013986	25013986	A	G	POLA1	c.4308A>G	NM_016937.4	NP_058633.2:p.(Thr1436=)	NC_000023.10:g.25013986A>G	(Likely) benign	1 lab	3de11cda01
20:44756823 CD40 C>T	20	44756823	44756823	C	T	CD40	c.544C>T	NM_152854.4	NP_690593.1:p.(Arg182Trp)	NC_000020.10:g.44756823C>T	(Likely) benign	1 lab	3de4d276bd
4:79443611 FRAS1 G>T	4	79443611	79443611	G	T	FRAS1	c.10649-192G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79443611G>T	(Likely) benign	1 lab	3de82997e4
20:10625799 JAG1 C>A	20	10625799	10625799	C	A	JAG1	c.2219G>T	NM_000214.3	NP_000205.1:p.(Cys740Phe)	NC_000020.10:g.10625799C>A	VUS	1 lab	3de8b5e380
1:120458829 NOTCH2 G>A	1	120458829	120458829	G	A	NOTCH2	c.6516C>T	NM_024408.4	NP_077719.2:p.(Ser2172=)	NC_000001.10:g.120458829G>A	(Likely) benign	1 lab	3deb6110ab
2:241723199 KIF1A C>T	2	241723199	241723199	C	T	KIF1A	c.755G>A	NM_001244008.1	NP_001230937.1:p.(Ser252Asn)	NC_000002.11:g.241723199C>T	(Likely) benign	1 lab	3ded69335d
17:48701284 CACNA1G C>T	17	48701284	48701284	C	T	CACNA1G	c.6077C>T	NM_018896.5	NP_061496.2:p.(Thr2026Met)	NC_000017.10:g.48701284C>T	(Likely) benign	1 lab	3df2049a87
10:102510716 PAX2 A>C	10	102510716	102510716	A	C	PAX2	c.410+68A>C	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102510716A>C	(Likely) benign	1 lab	3df333659b
1:167825688 ADCY10 T>TG	1	167825688	167825689	T	TG	ADCY10	c.1897-12dup	NM_018417.6	NP_060887.2:p.?	NC_000001.10:g.167825689dup	(Likely) benign	1 lab	3df3ce8c33
16:2152130 PKD1 GGGATGGCGCGGCCCC>G	16	2152130	2152147	GGGATGGCGCGGCCCC	G	PKD1	c.9314_9328del	NM_001009944.3	NP_001009944.3:p.(Arg3105_Ile3109del)	NC_000016.9:g.2152133_2152147del	VUS	1 lab	3df6c5cb31
4:88929305 PKD2 G>A	4	88929305	88929305	G	A	PKD2	c.420G>A	NM_000297.4	NP_000288.1:p.(Gly140=)	NC_000004.11:g.88929305G>A	(Likely) benign	1 lab	3dfa2e0c68
X:49853392 CLCN5 G>A	X	49853392	49853392	G	A	CLCN5	c.1385G>A	NM_000084.5	NP_000075.1:p.(Gly462Asp)	NC_000023.10:g.49853392G>A	(Likely) pathogenic	1 lab	3e076753c6
4:79229435 FRAS1 C>G	4	79229435	79229435	C	G	FRAS1	c.1678+72C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79229435C>G	(Likely) benign	1 lab	3e08bd02bf
X:123034324 XIAP T>G	X	123034324	123034324	T	G	XIAP	c.1100-19T>G	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123034324T>G	(Likely) benign	1 lab	3e08ca714d
4:128861116 MFSD8 C>T	4	128861116	128861116	C	T	MFSD8	c.590G>A	NM_152778.3	NP_689991.1:p.(Gly197Asp)	NC_000004.11:g.128861116C>T	(Likely) benign	1 lab	3e093ce18a
9:137727063 COL5A1 C>T	9	137727063	137727063	C	T	COL5A1	c.5370+13C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137727063C>T	(Likely) benign	1 lab	3e0bbe7a79
8:145008157 PLEC C>CTGCTG	8	145008157	145008158	C	CTGCTG	PLEC	c.1674+8_1674+9insCAGCA	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145008157_145008158insTGCTG	VUS	1 lab	3e0eaa064a
15:40916237 KNL1 A>G	15	40916237	40916237	A	G	KNL1	c.3853A>G	NM_170589.5	NP_733468.3:p.(Lys1285Glu)	NC_000015.9:g.40916237A>G	(Likely) benign	1 lab	cdc244dcc7
10:73912659 ASCC1 G>A	10	73912659	73912659	G	A	ASCC1	c.798C>T	NM_001198799.3	NP_001185728.1:p.(Tyr266=)	NC_000010.10:g.73912659G>A	(Likely) benign	1 lab	3e18e5d346
20:62070997 KCNQ2 G>A	20	62070997	62070997	G	A	KCNQ2	c.881C>T	NM_172107.4	NP_742105.1:p.(Ala294Val)	NC_000020.10:g.62070997G>A	(Likely) pathogenic	1 lab	3e19e725f3
8:28588847 EXTL3 C>T	8	28588847	28588847	C	T	EXTL3	c.2256C>T	NM_001440.4	NP_001431.1:p.(Asp752=)	NC_000008.10:g.28588847C>T	(Likely) benign	1 lab	3e1ab6b4b3
15:42110783 MAPKBP1 G>A	15	42110783	42110783	G	A	MAPKBP1	c.2174+3G>A	NM_001128608.2	NP_001122080.1:p.?	NC_000015.9:g.42110783G>A	(Likely) benign	1 lab	3e1d9a853c
20:8637981 PLCB1 C>T	20	8637981	8637981	C	T	PLCB1	c.695+50C>T	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8637981C>T	(Likely) benign	1 lab	3e212c488c
15:77322938 PSTPIP1 G>A	15	77322938	77322938	G	A	PSTPIP1	c.642+16G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77322938G>A	(Likely) benign	1 lab	3e219da32b
8:61765569 CHD7 G>T	8	61765569	61765569	G	T	CHD7				NC_000008.10:g.61765569G>T	(Likely) benign	1 lab	3e2322ff27
8:17924670 ASAH1 T>C	8	17924670	17924670	T	C	ASAH1	c.430+59A>G	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17924670T>C	(Likely) benign	1 lab	3e2422e31c
9:135152577 SETX G>A	9	135152577	135152577	G	A	SETX	c.6843-38C>T	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135152577G>A	(Likely) benign	1 lab	3e26d426fb
9:93629398 SYK C>T	9	93629398	93629398	C	T	SYK	c.847-15C>T	NM_003177.7	NP_003168.2:p.?	NC_000009.11:g.93629398C>T	(Likely) benign	1 lab	3e26de3d6b
15:59428863 MYO1E T>C	15	59428863	59428863	T	C	MYO1E	c.*716A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59428863T>C	(Likely) benign	1 lab	3e278e388d
X:154221256 F8 C>G	X	154221256	154221256	C	G	F8	c.556G>C	NM_000132.3	NP_000123.1:p.(Asp186His)	NC_000023.10:g.154221256C>G	(Likely) pathogenic	1 lab	3e325e8f47
1:247607349 NLRP3 G>C	1	247607349	247607349	G	C	NLRP3	c.2739G>C	NM_001243133.2	NP_001230062.1:p.(Thr913=)	NC_000001.10:g.247607349G>C	(Likely) benign	1 lab	3e32720ef0
2:8918837 KIDINS220 T>C	2	8918837	8918837	T	C	KIDINS220	c.2635A>G	NM_020738.4	NP_065789.1:p.(Arg879Gly)	NC_000002.11:g.8918837T>C	(Likely) benign	1 lab	3e35729f53
X:153296070 MECP2 A>AG	X	153296070	153296076	A	AG	MECP2	c.1208dup	NM_004992.4	NP_004983.1:p.(Glu404Ter)	NC_000023.10:g.153296076dup	(Likely) pathogenic	1 lab	cdc304aa57
9:6606545 GLDC T>C	9	6606545	6606545	T	C	GLDC	c.713+47A>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6606545T>C	(Likely) benign	1 lab	3ea5c5a0b5
11:88027252 CTSC G>A	11	88027252	88027252	G	A	CTSC	c.1314C>T	NM_001814.4	NP_001805.3:p.(Tyr438=)	NC_000011.9:g.88027252G>A	(Likely) benign	1 lab	3e38a1fdb0
12:6181569 VWF G>A	12	6181569	6181569	G	A	VWF	c.1037C>T	NM_000552.4	NP_000543.2:p.(Thr346Ile)	NC_000012.11:g.6181569G>A	(Likely) benign	1 lab	3e3c5a08b0
X:53279447 IQSEC2 C>T	X	53279447	53279447	C	T	IQSEC2	c.2297+14G>A	NM_001111125.3	NP_001104595.1:p.?	NC_000023.10:g.53279447C>T	(Likely) benign	1 lab	3e3d9bea9a
6:16327823 ATXN1 G>A	6	16327823	16327823	G	A	ATXN1	c.719C>T	NM_000332.3	NP_000323.2:p.(Pro240Leu)	NC_000006.11:g.16327823G>A	VUS	1 lab	3e3fecca3b
9:16419498 BNC2 T>C	9	16419498	16419498	T	C	BNC2	c.2789A>G	NM_017637.5	NP_060107.3:p.(Asp930Gly)	NC_000009.11:g.16419498T>C	(Likely) benign	1 lab	3e4084a5cc
10:27012682 PDSS1 A>G	10	27012682	27012682	A	G	PDSS1	c.610-53A>G	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27012682A>G	(Likely) benign	1 lab	3e44466446
3:149613256 RNF13 G>T	3	149613256	149613256	G	T	RNF13	c.322-4G>T	NM_007282.4	NP_009213.1:p.?	NC_000003.11:g.149613256G>T	(Likely) benign	1 lab	cdc3d52891
4:57337867 SRP72 T>G	4	57337867	57337867	T	G	SRP72	c.231-19T>G	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57337867T>G	(Likely) benign	1 lab	3e48c74ef9
4:186068078 SLC25A4 G>A	4	186068078	186068078	G	A	SLC25A4	c.850G>A	NM_001151.4	NP_001142.2:p.(Gly284Ser)	NC_000004.11:g.186068078G>A	VUS	1 lab	3e4dc2d50e
9:138676615 KCNT1 C>T	9	138676615	138676615	C	T	KCNT1	c.3036C>T	NM_020822.2	NP_065873.2:p.(Ile1012=)	NC_000009.11:g.138676615C>T	(Likely) benign	1 lab	3e4ee37313
12:6443010 TNFRSF1A C>T	12	6443010	6443010	C	T	TNFRSF1A	c.215G>A	NM_001065.3	NP_001056.1:p.(Cys72Tyr)	NC_000012.11:g.6443010C>T	(Likely) pathogenic	1 lab	3e51b83457
12:103271239 PAH C>T	12	103271239	103271239	C	T	PAH	c.441+1G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103271239C>T	(Likely) pathogenic	1 lab	3e5533be5f
1:234744457 IRF2BP2 G>A	1	234744457	234744457	G	A	IRF2BP2	c.784C>T	NM_182972.2	NP_892017.2:p.(Pro262Ser)	NC_000001.10:g.234744457G>A	(Likely) benign	1 lab	3e60cd6438
4:86863206 ARHGAP24 CT>C	4	86863206	86863215	CT	C	ARHGAP24	c.392-4del	NM_001025616.3	NP_001020787.2:p.?	NC_000004.11:g.86863215del	(Likely) benign	1 lab	3e62768a77
2:217300109 SMARCAL1 G>A	2	217300109	217300109	G	A	SMARCAL1	c.1534G>A	NM_014140.3	NP_054859.2:p.(Val512Met)	NC_000002.11:g.217300109G>A	(Likely) benign	1 lab	3e677978b2
X:153132857 L1CAM G>A	X	153132857	153132857	G	A	L1CAM	c.2091C>T	NM_000425.5	NP_000416.1:p.(Pro697=)	NC_000023.10:g.153132857G>A	(Likely) benign	1 lab	3e69827e4f
18:43432480 EPG5 G>A	18	43432480	43432480	G	A	EPG5	c.7692C>T	NM_020964.3	NP_066015.2:p.(Leu2564=)	NC_000018.9:g.43432480G>A	(Likely) benign	1 lab	3e69b31bac
21:47423133 COL6A1 C>G	21	47423133	47423133	C	G	COL6A1	c.2464+70C>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47423133C>G	(Likely) benign	1 lab	3e6ae7d086
15:55527172 RAB27A A>C	15	55527172	55527172	A	C	RAB27A	c.-22-18T>G	NM_004580.5	NP_004571.2:p.?	NC_000015.9:g.55527172A>C	(Likely) benign	1 lab	3e6e013fb5
2:44528119 SLC3A1 C>T	2	44528119	44528119	C	T	SLC3A1	c.1012-23C>T	NM_000341.4	NP_000332.2:p.?	NC_000002.11:g.44528119C>T	(Likely) benign	1 lab	3e751a205a
11:47834424 NUP160 T>G	11	47834424	47834424	T	G	NUP160	c.1952+10A>C	NM_015231.2	NP_056046.1:p.?	NC_000011.9:g.47834424T>G	(Likely) benign	1 lab	3e7b6ffc3b
2:179643656 TTN C>CA	2	179643656	179643657	C	CA	TTN	c.4152dup	NM_001267550.2	NP_001254479.2:p.(Ala1385CysfsTer58)	NC_000002.11:g.179643657dup	(Likely) pathogenic	1 lab	cdc3e90efb
14:65252069 SPTB GAA>G	14	65252069	65252081	GAA	G	SPTB	c.3855+184_3855+185del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65252080_65252081del	(Likely) benign	1 lab	3e7fbd8412
19:48205498 BICRA C>T	19	48205498	48205498	C	T	BICRA	c.4509C>T	NM_015711.3	NP_056526.3:p.(Ser1503=)	NC_000019.9:g.48205498C>T	(Likely) benign	1 lab	cdc5de55aa
17:73824966 UNC13D G>T	17	73824966	73824966	G	T	UNC13D	c.3053C>A	NM_199242.2	NP_954712.1:p.(Ala1018Asp)	NC_000017.10:g.73824966G>T	(Likely) pathogenic	1 lab	3e807be53e
8:41580607 ANK1 T>C	8	41580607	41580607	T	C	ANK1	c.1008+36A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41580607T>C	(Likely) benign	1 lab	3e820bb127
1:43908946 SZT2 A>C	1	43908946	43908946	A	C	SZT2	c.8328+8A>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43908946A>C	(Likely) benign	1 lab	3e83f77447
8:22021883 SFTPC G>A	8	22021883	22021883	G	A	SFTPC	c.*329G>A	NM_001172357.2	NP_001165828.1:p.?	NC_000008.10:g.22021883G>A	(Likely) benign	1 lab	cdc957c394
8:41550780 ANK1 T>C	8	41550780	41550780	T	C	ANK1	c.3533-61A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41550780T>C	(Likely) benign	1 lab	3e91bac3c0
2:71014888 FIGLA G>T	2	71014888	71014888	G	T	FIGLA	c.277C>A	NM_001004311.3	NP_001004311.2:p.(Pro93Thr)	NC_000002.11:g.71014888G>T	VUS	1 lab	cdcbbd8124
2:179408844 TTN T>C	2	179408844	179408844	T	C	TTN	c.96029-2A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179408844T>C	(Likely) pathogenic	1 lab	cdcc797b39
12:21965048 ABCC9 C>T	12	21965048	21965048	C	T	ABCC9	c.4146G>A	NM_020297.2	NP_064693.2:p.(Leu1382=)	NC_000012.11:g.21965048C>T	(Likely) benign	1 lab	3e9af540a5
18:55352287 ATP8B1 C>T	18	55352287	55352287	C	T	ATP8B1	c.1473+17G>A	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55352287C>T	VUS	1 lab	3e9c68b581
9:130588130 ENG G>C	9	130588130	130588130	G	C	ENG	c.533C>G	NM_000118.3	NP_000109.1:p.(Ser178Ter)	NC_000009.11:g.130588130G>C	(Likely) pathogenic	1 lab	3e9e4375ab
7:36447486 ANLN C>T	7	36447486	36447486	C	T	ANLN	c.1017C>T	NM_018685.5	NP_061155.2:p.(Ser339=)	NC_000007.13:g.36447486C>T	(Likely) benign	1 lab	3ea11beb8e
2:61108995 REL C>T	2	61108995	61108995	C	T	REL	c.10+10C>T	NM_002908.4	NP_002899.1:p.?	NC_000002.11:g.61108995C>T	(Likely) benign	1 lab	3ea13766f0
X:152859997 CCNQ G>A	X	152859997	152859997	G	A	CCNQ	c.429+8C>T	NM_152274.5	NP_689487.2:p.?	NC_000023.10:g.152859997G>A	(Likely) benign	1 lab	3ea5dbbaed
2:228145608 COL4A3 G>A	2	228145608	228145608	G	A	COL4A3	c.2375-1G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228145608G>A	(Likely) pathogenic	1 lab	3ea6659c8e
10:105677204 STN1 G>A	10	105677204	105677204	G	A	STN1	c.133+16C>T	NM_024928.5	NP_079204.2:p.?	NC_000010.10:g.105677204G>A	(Likely) benign	1 lab	3ea6d40225
2:152955134 CACNB4 G>A	2	152955134	152955134	G	A	CACNB4	c.64-207C>T	NM_000726.4	NP_000717.2:p.?	NC_000002.11:g.152955134G>A	(Likely) benign	1 lab	3ea7a4cd5c
8:68658238 CPA6 G>A	8	68658238	68658238	G	A	CPA6	c.116+11C>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658238G>A	(Likely) benign	1 lab	3ea846c417
17:76122599 TMC6 G>A	17	76122599	76122599	G	A	TMC6	c.181+6C>T	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76122599G>A	(Likely) benign	1 lab	3ea8b83aff
20:57234706 STX16 T>C	20	57234706	57234706	T	C	STX16	c.144+16T>C	NM_001001433.2	NP_001001433.1:p.?	NC_000020.10:g.57234706T>C	(Likely) benign	1 lab	3eae667cb8
2:128044286 ERCC3 G>A	2	128044286	128044286	G	A	ERCC3	c.1335C>T	NM_000122.1	NP_000113.1:p.(Thr445=)	NC_000002.11:g.128044286G>A	(Likely) benign	1 lab	3eaf849afb
12:125432382 DHX37 A>G	12	125432382	125432382	A	G	DHX37	c.3440T>C	NM_032656.4	NP_116045.2:p.(Ile1147Thr)	NC_000012.11:g.125432382A>G	VUS	1 lab	cdcee1eb52
16:56904650 SLC12A3 TGAG>T	16	56904650	56904657	TGAG	T	SLC12A3	c.852+7_852+9del	NM_001126108.2	NP_001119580.2:p.?	NC_000016.9:g.56904655_56904657del	(Likely) benign	1 lab	3eb3455c56
2:238287805 COL6A3 A>G	2	238287805	238287805	A	G	COL6A3	c.1971T>C	NM_004369.3	NP_004360.2:p.(Tyr657=)	NC_000002.11:g.238287805A>G	(Likely) benign	1 lab	3eb569acf8
2:9668103 ADAM17 C>T	2	9668103	9668103	C	T	ADAM17	c.451-20G>A	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9668103C>T	(Likely) benign	1 lab	3eb6ca4c8a
1:160321180 NCSTN C>G	1	160321180	160321180	C	G	NCSTN	c.733+18C>G	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160321180C>G	(Likely) benign	1 lab	3eb6faa27c
10:8111580 GATA3 G>A	10	8111580	8111580	G	A	GATA3	c.1050+19G>A	NM_001002295.2	NP_001002295.1:p.?	NC_000010.10:g.8111580G>A	(Likely) benign	1 lab	3eb744a3fe
1:45973239 MMACHC T>A	1	45973239	45973239	T	A	MMACHC	c.276+17T>A	NM_015506.2	NP_056321.2:p.?	NC_000001.10:g.45973239T>A	(Likely) benign	1 lab	3eb7e5379a
9:36846827 PAX5 C>T	9	36846827	36846827	C	T	PAX5	c.1099+13G>A	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36846827C>T	(Likely) benign	1 lab	3eb86fde84
2:167099279 SCN9A A>G	2	167099279	167099279	A	G	SCN9A	c.3440-113T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167099279A>G	(Likely) benign	1 lab	3ebb14914c
17:40695425 NAGLU A>G	17	40695425	40695425	A	G	NAGLU	c.1401A>G	NM_000263.4	NP_000254.2:p.(Pro467=)	NC_000017.10:g.40695425A>G	(Likely) benign	1 lab	3ebcc5a15f
4:78987284 FRAS1 A>C	4	78987284	78987284	A	C	FRAS1	c.108+114A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78987284A>C	(Likely) benign	1 lab	3ebf310dab
19:1399200 GAMT C>G	19	1399200	1399200	C	G	GAMT	c.392-6G>C	NM_000156.6	NP_000147.1:p.?	NC_000019.9:g.1399200C>G	(Likely) benign	1 lab	3ebfdb3ccb
12:6442984 TNFRSF1A A>G	12	6442984	6442984	A	G	TNFRSF1A	c.241T>C	NM_001065.3	NP_001056.1:p.(Cys81Arg)	NC_000012.11:g.6442984A>G	(Likely) pathogenic	1 lab	3ec61fa381
4:79258815 FRAS1 G>A	4	79258815	79258815	G	A	FRAS1	c.2279-13G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79258815G>A	(Likely) benign	1 lab	3ec726d77b
10:101989173 CHUK G>A	10	101989173	101989173	G	A	CHUK	c.105+12C>T	NM_001278.5	NP_001269.3:p.?	NC_000010.10:g.101989173G>A	(Likely) benign	1 lab	3ec82eb4e9
20:44048972 PIGT A>C	20	44048972	44048972	A	C	PIGT	c.770A>C	NM_015937.6	NP_057021.2:p.(Asp257Ala)	NC_000020.10:g.44048972A>C	(Likely) benign	1 lab	3ed1a195f5
18:29099756 DSG2 A>G	18	29099756	29099756	A	G	DSG2	c.82-10A>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29099756A>G	(Likely) benign	1 lab	3ed65aaa61
20:62324140 RTEL1 C>T	20	62324140	62324140	C	T	RTEL1	c.2653-18C>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62324140C>T	(Likely) benign	1 lab	3ed6940cd2
8:41550510 ANK1 C>T	8	41550510	41550510	C	T	ANK1	c.3629+113G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41550510C>T	(Likely) benign	1 lab	3ed77de0c7
22:17588614 IL17RA C>T	22	17588614	17588614	C	T	IL17RA	c.1046-3C>T	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17588614C>T	(Likely) benign	1 lab	3edbf0df71
2:228162380 COL4A3 T>C	2	228162380	228162380	T	C	COL4A3	c.3566-10T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228162380T>C	(Likely) benign	1 lab	3edc096678
7:156799181 MNX1 C>T	7	156799181	156799181	C	T	MNX1	c.208G>A	NM_001165255.1	NP_001158727.1:p.(Glu70Lys)	NC_000007.13:g.156799181C>T	(Likely) pathogenic	1 lab	3edc16b5b3
5:89977099 ADGRV1 T>C	5	89977099	89977099	T	C	ADGRV1	c.5525-33T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89977099T>C	(Likely) benign	1 lab	3eddec95c6
10:95791030 PLCE1 C>T	10	95791030	95791030	C	T	PLCE1	c.227C>T	NM_016341.3	NP_057425.3:p.(Ala76Val)	NC_000010.10:g.95791030C>T	(Likely) benign	1 lab	3edef2b0d9
11:1780061 CTSD C>T	11	1780061	1780061	C	T	CTSD	c.471+138G>A	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1780061C>T	(Likely) benign	1 lab	3ee086e414
2:109365365 RANBP2 T>C	2	109365365	109365365	T	C	RANBP2	c.1064-11T>C	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109365365T>C	(Likely) benign	1 lab	3ee1dc1632
14:23876213 MYH6 G>A	14	23876213	23876213	G	A	MYH6	c.201+19C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23876213G>A	(Likely) benign	1 lab	3eeed1d9a7
4:126411279 FAT4 G>A	4	126411279	126411279	G	A	FAT4				NC_000004.11:g.126411279G>A	(Likely) benign	1 lab	3ef1a6f110
7:156799298 MNX1 G>A	7	156799298	156799298	G	A	MNX1	c.91C>T	NM_001165255.1	NP_001158727.1:p.(Arg31Trp)	NC_000007.13:g.156799298G>A	(Likely) pathogenic	1 lab	3ef1ba67d8
21:33035995 SOD1 T>A	21	33035995	33035995	T	A	SOD1	c.73-108T>A	NM_000454.4	NP_000445.1:p.?	NC_000021.8:g.33035995T>A	(Likely) benign	1 lab	3ef3e24def
5:169410129 DOCK2 T>A	5	169410129	169410129	T	A	DOCK2	c.2857T>A	NM_004946.3	NP_004937.1:p.(Ser953Thr)	NC_000005.9:g.169410129T>A	(Likely) benign	1 lab	3ef56e06cc
2:216256465 FN1 G>C	2	216256465	216256465	G	C	FN1	c.4142C>G	NM_212482.2	NP_997647.1:p.(Pro1381Arg)	NC_000002.11:g.216256465G>C	(Likely) pathogenic	1 lab	3ef84790f2
12:13761829 GRIN2B CA>C	12	13761829	13761832	CA	C	GRIN2B	c.1781-64del	NM_000834.5	NP_000825.2:p.?	NC_000012.11:g.13761832del	(Likely) benign	1 lab	3efa73ef22
1:160319883 NCSTN C>G	1	160319883	160319883	C	G	NCSTN	c.437-12C>G	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160319883C>G	(Likely) benign	1 lab	3efb187459
2:9668050 ADAM17 T>C	2	9668050	9668050	T	C	ADAM17	c.484A>G	NM_003183.6	NP_003174.3:p.(Lys162Glu)	NC_000002.11:g.9668050T>C	(Likely) benign	1 lab	3efcc9fd75
5:169502980 DOCK2 C>T	5	169502980	169502980	C	T	DOCK2	c.4758C>T	NM_004946.3	NP_004937.1:p.(Ile1586=)	NC_000005.9:g.169502980C>T	(Likely) benign	1 lab	3f0660930b
7:50459521 IKZF1 C>T	7	50459521	50459521	C	T	IKZF1	c.684C>T	NM_001220765.3	NP_001207694.1:p.(Asn228=)	NC_000007.13:g.50459521C>T	(Likely) benign	1 lab	3f08049a32
2:227875134 COL4A4 G>T	2	227875134	227875134	G	T	COL4A4	c.4417C>A	NM_000092.4	NP_000083.3:p.(Gln1473Lys)	NC_000002.11:g.227875134G>T	VUS	1 lab	3f0daa1f63
19:6714321 C3 G>A	19	6714321	6714321	G	A	C3	c.599+42C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6714321G>A	(Likely) benign	1 lab	3f10caf16b
6:33646487 ITPR3 T>C	6	33646487	33646487	T	C	ITPR3	c.3843T>C	NM_002224.3	NP_002215.2:p.(Pro1281=)	NC_000006.11:g.33646487T>C	(Likely) benign	1 lab	3f12919ea1
9:135776197 TSC1 GCTGCTGGACCGACTCA>G	9	135776197	135776216	GCTGCTGGACCGACTCA	G	TSC1	c.2514_2529del	NM_000368.5	NP_000359.1:p.(Glu839ArgfsTer5)	NC_000009.11:g.135776201_135776216del	(Likely) pathogenic	1 lab	3f15d1d20c
9:138677958 KCNT1 C>G	9	138677958	138677958	C	G	KCNT1	c.3178-85C>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677958C>G	(Likely) benign	1 lab	3f16759dbc
1:160325768 NCSTN C>T	1	160325768	160325768	C	T	NCSTN	c.1551+20C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160325768C>T	(Likely) benign	1 lab	3f1b8ceee6
16:30100399 TBX6 G>A	16	30100399	30100399	G	A	TBX6	c.486C>T	NM_004608.3	NP_004599.2:p.(Gly162=)	NC_000016.9:g.30100399G>A	VUS	1 lab	3f1cdd0c09
1:39844144 MACF1 C>T	1	39844144	39844144	C	T	MACF1	c.7039C>T	NM_012090.5	NP_036222.3:p.(Pro2347Ser)	NC_000001.10:g.39844144C>T	VUS	1 lab	cdd6354f6a
1:247587969 NLRP3 G>C	1	247587969	247587969	G	C	NLRP3	c.1218G>C	NM_001243133.2	NP_001230062.1:p.(Met406Ile)	NC_000001.10:g.247587969G>C	(Likely) pathogenic	1 lab	3f2640e77f
5:35873605 IL7R G>A	5	35873605	35873605	G	A	IL7R				NC_000005.9:g.35873605G>A	(Likely) benign	1 lab	3f27fa775c
3:9483918 SETD5 C>T	3	9483918	9483918	C	T	SETD5	c.1066C>T	NM_001080517.3	NP_001073986.1:p.(Pro356Ser)	NC_000003.11:g.9483918C>T	VUS	1 lab	3f28bcb2f4
16:3293228 MEFV T>A	16	3293228	3293228	T	A	MEFV	c.2259A>T	NM_000243.2	NP_000234.1:p.(Gln753His)	NC_000016.9:g.3293228T>A	VUS	1 lab	3f2dd06e40
7:128485136 FLNC A>G	7	128485136	128485136	A	G	FLNC	c.3617A>G	NM_001458.5	NP_001449.3:p.(Asn1206Ser)	NC_000007.13:g.128485136A>G	VUS	1 lab	cddb4ba684
15:40241376 EIF2AK4 C>T	15	40241376	40241376	C	T	EIF2AK4	c.420C>T	NM_001013703.4	NP_001013725.2:p.(Pro140=)	NC_000015.9:g.40241376C>T	(Likely) benign	1 lab	3f368a8d7d
22:18644713 USP18 C>G	22	18644713	18644713	C	G	USP18	c.400+11C>G	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18644713C>G	(Likely) benign	1 lab	3f376b6ff2
12:49431895 KMT2D G>A	12	49431895	49431895	G	A	KMT2D	c.9244C>T	NM_003482.4	NP_003473.3:p.(Arg3082Trp)	NC_000012.11:g.49431895G>A	VUS	1 lab	cddb4dca66
16:20357591 UMOD A>G	16	20357591	20357591	A	G	UMOD	c.1039T>C	NM_001008389.3	NP_001008390.1:p.(Cys347Arg)	NC_000016.9:g.20357591A>G	(Likely) pathogenic	1 lab	3f3cb58c08
11:62396262 GANAB C>T	11	62396262	62396262	C	T	GANAB	c.2225G>A	NM_198335.4	NP_938149.2:p.(Arg742Gln)	NC_000011.9:g.62396262C>T	(Likely) benign	1 lab	3f3cc9b970
17:4098747 ANKFY1 T>C	17	4098747	4098747	T	C	ANKFY1	c.1249A>G	NM_001257999.2	NP_001244928.1:p.(Ile417Val)	NC_000017.10:g.4098747T>C	(Likely) benign	1 lab	3f40d4f44b
1:201013567 CACNA1S A>G	1	201013567	201013567	A	G	CACNA1S	c.4686T>C	NM_000069.3	NP_000060.2:p.(Ile1562=)	NC_000001.10:g.201013567A>G	(Likely) benign	1 lab	3f4dee7589
4:79176546 FRAS1 C>T	4	79176546	79176546	C	T	FRAS1	c.603+17C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79176546C>T	(Likely) benign	1 lab	3f56421fa6
2:217280030 SMARCAL1 G>C	2	217280030	217280030	G	C	SMARCAL1	c.603G>C	NM_014140.3	NP_054859.2:p.(Gly201=)	NC_000002.11:g.217280030G>C	(Likely) benign	1 lab	3f5d81c210
3:186293626 DNAJB11 C>T	3	186293626	186293626	C	T	DNAJB11	c.226-3C>T	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186293626C>T	(Likely) benign	1 lab	3f60063c64
6:160577085 SLC22A1 A>T	6	160577085	160577085	A	T	SLC22A1	c.1577A>T	NM_003057.3	NP_003048.1:p.(Lys526Met)	NC_000006.11:g.160577085A>T	(Likely) benign	1 lab	3f614a39bd
19:41018721 SPTBN4 G>GGCGGGCGCA	19	41018721	41018744	G	GGCGGGCGCA	SPTBN4	c.2040_2048dup	NM_020971.3	NP_066022.2:p.(Ala681_Gly683dup)	NC_000019.9:g.41018736_41018744dup	(Likely) benign	1 lab	3f626f25b7
4:79258862 FRAS1 G>T	4	79258862	79258862	G	T	FRAS1	c.2313G>T	NM_025074.7	NP_079350.5:p.(Pro771=)	NC_000004.11:g.79258862G>T	(Likely) benign	1 lab	3f63f40bda
17:600705 VPS53 G>A	17	600705	600705	G	A	VPS53	c.238C>T	NM_001128159.3	NP_001121631.1:p.(Arg80Ter)	NC_000017.10:g.600705G>A	(Likely) pathogenic	1 lab	3f66efeb02
17:43343962 MAP3K14 G>A	17	43343962	43343962	G	A	MAP3K14	c.2520C>T	NM_003954.5	NP_003945.2:p.(Ser840=)	NC_000017.10:g.43343962G>A	(Likely) benign	1 lab	3f71286111
16:28997075 LAT A>G	16	28997075	28997075	A	G	LAT	c.128+14A>G	NM_001014987.2	NP_001014987.1:p.?	NC_000016.9:g.28997075A>G	(Likely) benign	1 lab	3f71ed1abb
15:48736812 FBN1 G>A	15	48736812	48736812	G	A	FBN1	c.5963C>T	NM_000138.4	NP_000129.3:p.(Thr1988Ile)	NC_000015.9:g.48736812G>A	VUS	1 lab	3f71f5df0a
8:48691637 PRKDC G>A	8	48691637	48691637	G	A	PRKDC	c.11507C>T	NM_006904.6	NP_008835.5:p.(Pro3836Leu)	NC_000008.10:g.48691637G>A	(Likely) benign	1 lab	3f720f6a0f
13:39452543 FREM2 A>G	13	39452543	39452543	A	G	FREM2	c.8859+85A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452543A>G	(Likely) benign	1 lab	3f734d02e9
3:132436901 NPHP3 AT>A	3	132436901	132436909	AT	A	NPHP3	c.670+936del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132436909del	(Likely) benign	1 lab	3f744d0e15
X:153141256 L1CAM G>T	X	153141256	153141256	G	T	L1CAM	c.36C>A	NM_001278116.2	NP_001265045.1:p.(Leu12=)	NC_000023.10:g.153141256G>T	(Likely) benign	1 lab	3f74bfd74c
6:33405494 SYNGAP1 C>T	6	33405494	33405494	C	T	SYNGAP1	c.812C>T	NM_006772.3	NP_006763.2:p.(Ala271Val)	NC_000006.11:g.33405494C>T	VUS	1 lab	cde20921b1
11:32439298 WT1 C>T	11	32439298	32439298	C	T	WT1				NC_000011.9:g.32439298C>T	(Likely) benign	1 lab	3f77cda391
7:156802688 MNX1 C>A	7	156802688	156802688	C	A	MNX1	c.357G>T	NM_005515.4	NP_005506.3:p.(Pro119=)	NC_000007.13:g.156802688C>A	(Likely) benign	1 lab	3f79e37069
1:22987661 C1QB G>A	1	22987661	22987661	G	A	C1QB	c.544G>A	NM_000491.3	NP_000482.3:p.(Val182Met)	NC_000001.10:g.22987661G>A	(Likely) benign	1 lab	3f7a0132da
9:14756483 FREM1 A>G	9	14756483	14756483	A	G	FREM1	c.5335-39T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14756483A>G	(Likely) benign	1 lab	3f7d1bcca4
5:131066657 FNIP1 G>A	5	131066657	131066657	G	A	FNIP1	c.294C>T	NM_133372.3	NP_588613.3:p.(Ser98=)	NC_000005.9:g.131066657G>A	(Likely) benign	1 lab	3f8057a57b
15:93528805 CHD2 G>A	15	93528805	93528805	G	A	CHD2	c.3315G>A	NM_001271.4	NP_001262.3:p.(Thr1105=)	NC_000015.9:g.93528805G>A	(Likely) benign	1 lab	3f8134a30e
1:16059087 PLEKHM2 G>A	1	16059087	16059087	G	A	PLEKHM2	c.2806-20G>A	NM_015164.4	NP_055979.2:p.?	NC_000001.10:g.16059087G>A	VUS	1 lab	3f8157b2da
18:48465776 ME2 C>T	18	48465776	48465776	C	T	ME2	c.1418-164C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48465776C>T	(Likely) benign	1 lab	3f819f99b3
1:27429807 SLC9A1 G>C	1	27429807	27429807	G	C	SLC9A1	c.1486-4C>G	NM_003047.5	NP_003038.2:p.?	NC_000001.10:g.27429807G>C	(Likely) benign	1 lab	3f84e8391d
3:38622617 SCN5A C>G	3	38622617	38622617	C	G	SCN5A	c.3033G>C	NM_001099404.1	NP_001092874.1:p.(Pro1011=)	NC_000003.11:g.38622617C>G	(Likely) benign	1 lab	3f922a19bb
X:32472932 DMD C>T	X	32472932	32472932	C	T	DMD	c.3450G>A	NM_004006.2	NP_003997.1:p.(Glu1150=)	NC_000023.10:g.32472932C>T	(Likely) benign	1 lab	3f92677a6b
X:57936065 ZXDA C>A	X	57936065	57936065	C	A	ZXDA	c.790G>T	NM_007156.4	NP_009087.1:p.(Val264Leu)	NC_000023.10:g.57936065C>A	(Likely) benign	1 lab	3f92c44c7d
1:237433889 RYR2 T>G	1	237433889	237433889	T	G	RYR2	c.141T>G	NM_001035.3	NP_001026.2:p.(Cys47Trp)	NC_000001.10:g.237433889T>G	VUS	1 lab	3f93dfb329
13:39424878 FREM2 G>A	13	39424878	39424878	G	A	FREM2	c.6578-203G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39424878G>A	(Likely) benign	1 lab	3f94ff6adb
12:111885119 SH2B3 CATCTT>C	12	111885119	111885128	CATCTT	C	SH2B3	c.1022-10_1022-6del	NM_005475.3	NP_005466.1:p.?	NC_000012.11:g.111885124_111885128del	(Likely) benign	1 lab	3f952042be
20:62037993 KCNQ2 C>T	20	62037993	62037993	C	T	KCNQ2	c.*4G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62037993C>T	(Likely) benign	1 lab	3f970eaabc
4:128627927 INTU T>G	4	128627927	128627927	T	G	INTU	c.2074T>G	NM_015693.4	NP_056508.2:p.(Cys692Gly)	NC_000004.11:g.128627927T>G	(Likely) benign	1 lab	3f999c15ce
7:128484120 FLNC C>G	7	128484120	128484120	C	G	FLNC	c.2992C>G	NM_001458.4	NP_001449.3:p.(Gln998Glu)	NC_000007.13:g.128484120C>G	VUS	1 lab	3fa074eff0
22:36783834 MYH9 G>A	22	36783834	36783834	G	A	MYH9	c.-20+18C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36783834G>A	(Likely) benign	1 lab	3fa349c474
8:11612577 GATA4 G>A	8	11612577	11612577	G	A	GATA4	c.932G>A	NM_002052.5	NP_002043.2:p.(Arg311Gln)	NC_000008.10:g.11612577G>A	VUS	1 lab	3fa37591d1
12:110230048 TRPV4 CA>C	12	110230048	110230070	CA	C	TRPV4	c.1891+119del	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110230070del	(Likely) benign	1 lab	3fa3f1e381
4:79176245 FRAS1 G>A	4	79176245	79176245	G	A	FRAS1	c.470-151G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79176245G>A	(Likely) benign	1 lab	3fa5cbab58
19:10472876 TYK2 T>C	19	10472876	10472876	T	C	TYK2	c.1670-19A>G	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10472876T>C	(Likely) benign	1 lab	3fa943d9f1
12:21919062 KCNJ8 C>T	12	21919062	21919062	C	T	KCNJ8	c.870G>A	NM_004982.4	NP_004973.1:p.(Leu290=)	NC_000012.11:g.21919062C>T	(Likely) benign	1 lab	3fa9c59473
10:43609140 RET C>T	10	43609140	43609140	C	T	RET	c.1879+17C>T	NM_020975.4	NP_066124.1:p.?	NC_000010.10:g.43609140C>T	(Likely) benign	1 lab	3fab094161
1:43907172 SZT2 C>T	1	43907172	43907172	C	T	SZT2	c.7341-3C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43907172C>T	(Likely) benign	1 lab	3fabc0aada
12:6443060 TNFRSF1A C>T	12	6443060	6443060	C	T	TNFRSF1A	c.194-29G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6443060C>T	(Likely) benign	1 lab	3fb8843c1c
17:41251871 BRCA1 G>C	17	41251871	41251871	G	C	BRCA1	c.468C>G	NM_007294.3	NP_009225.1:p.(Leu156=)	NC_000017.10:g.41251871G>C	(Likely) benign	1 lab	3fbcf04e92
16:89349066 ANKRD11 T>C	16	89349066	89349066	T	C	ANKRD11	c.3884A>G	NM_001256182.2	NP_001243111.1:p.(Asp1295Gly)	NC_000016.9:g.89349066T>C	VUS	1 lab	cdeccf1b05
20:10622257 JAG1 C>T	20	10622257	10622257	C	T	JAG1	c.2767G>A	NM_000214.3	NP_000205.1:p.(Asp923Asn)	NC_000020.10:g.10622257C>T	VUS	1 lab	3fc0d95aba
14:58727738 PSMA3 C>T	14	58727738	58727738	C	T	PSMA3	c.477C>T	NM_002788.4	NP_002779.1:p.(Tyr159=)	NC_000014.8:g.58727738C>T	(Likely) benign	1 lab	3fc106f10f
7:2583352 BRAT1 G>A	7	2583352	2583352	G	A	BRAT1	c.675C>T	NM_001350626.2	NP_001337555.1:p.(Phe225=)	NC_000007.13:g.2583352G>A	(Likely) benign	1 lab	3fc21862ca
13:20637071 ZMYM2 A>G	13	20637071	20637071	A	G	ZMYM2	c.2997A>G	NM_003453.5	NP_003444.1:p.(Pro999=)	NC_000013.10:g.20637071A>G	(Likely) benign	1 lab	3fc43ecf76
14:23861872 MYH6 A>G	14	23861872	23861872	A	G	MYH6	c.3252-11T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23861872A>G	(Likely) benign	1 lab	3fc6002b98
X:18664272 RS1 CT>C	X	18664272	18664282	CT	C	RS1	c.326+1038del	NM_000330.4	NP_000321.1:p.?	NC_000023.10:g.18664282del	(Likely) benign	1 lab	3fc614e62c
13:39438400 FREM2 G>A	13	39438400	39438400	G	A	FREM2	c.7652-12G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39438400G>A	(Likely) benign	1 lab	3fc6a12eca
5:73989467 HEXB C>A	5	73989467	73989467	C	A	HEXB	c.449C>A	NM_000521.3	NP_000512.1:p.(Thr150Asn)	NC_000005.9:g.73989467C>A	(Likely) benign	1 lab	3fc7a760ac
22:36718460 MYH9 G>A	22	36718460	36718460	G	A	MYH9	c.705+14C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36718460G>A	(Likely) benign	1 lab	3fca3b322f
X:47435933 SYN1 C>T	X	47435933	47435933	C	T	SYN1	c.944G>A	NM_006950.3	NP_008881.2:p.(Arg315His)	NC_000023.10:g.47435933C>T	(Likely) benign	1 lab	3fcabbb49a
17:40946915 WNK4 G>A	17	40946915	40946915	G	A	WNK4	c.2476G>A	NM_032387.5	NP_115763.2:p.(Gly826Ser)	NC_000017.10:g.40946915G>A	(Likely) benign	1 lab	3fd005b658
2:216261851 FN1 C>T	2	216261851	216261851	C	T	FN1	c.3604+9G>A	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216261851C>T	(Likely) benign	1 lab	3fd38a4986
13:39420663 FREM2 T>C	13	39420663	39420663	T	C	FREM2	c.6020-47T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39420663T>C	(Likely) benign	1 lab	3fd51e2d6c
13:32929349 BRCA2 GA>G	13	32929349	32929350	GA	G	BRCA2	c.7360del	NM_000059.4	NP_000050.3:p.(Ile2454PhefsTer13)	NC_000013.10:g.32929350del	(Likely) pathogenic	1 lab	3fd668f5c2
2:166211259 SCN2A C>T	2	166211259	166211259	C	T	SCN2A	c.3399+78C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166211259C>T	(Likely) benign	1 lab	3fd7a8f19c
1:247587424 NLRP3 G>A	1	247587424	247587424	G	A	NLRP3	c.679G>A	NM_004895.4	NP_004886.3:p.(Ala227Thr)	NC_000001.10:g.247587424G>A	(Likely) benign	1 lab	3fde1a07aa
5:140896472 DIAPH1 C>T	5	140896472	140896472	C	T	DIAPH1	c.3765G>A	NM_005219.5	NP_005210.3:p.(Glu1255=)	NC_000005.9:g.140896472C>T	(Likely) benign	1 lab	3fde5381aa
7:128494026 FLNC A>T	7	128494026	128494026	A	T	FLNC	c.6485-2A>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128494026A>T	(Likely) pathogenic	1 lab	3fde69f797
9:6534845 GLDC T>C	9	6534845	6534845	T	C	GLDC	c.2839-57A>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6534845T>C	(Likely) benign	1 lab	3fe1cda6f0
6:161123348 PLG G>A	6	161123348	161123348	G	A	PLG	c.12G>A	NM_000301.3	NP_000292.1:p.(Lys4=)	NC_000006.11:g.161123348G>A	(Likely) benign	1 lab	3fe2141eed
6:135732531 AHI1 A>C	6	135732531	135732531	A	C	AHI1	c.2916T>G	NM_017651.4	NP_060121.3:p.(Ser972=)	NC_000006.11:g.135732531A>C	(Likely) benign	1 lab	3fe5b85633
8:133184937 KCNQ3 T>G	8	133184937	133184937	T	G	KCNQ3	c.1048A>C	NM_004519.4	NP_004510.1:p.(Ile350Leu)	NC_000008.10:g.133184937T>G	VUS	1 lab	3fe90b51d5
10:104828498 CNNM2 C>T	10	104828498	104828498	C	T	CNNM2	c.2167+19C>T	NM_017649.5	NP_060119.3:p.?	NC_000010.10:g.104828498C>T	(Likely) benign	1 lab	3fea1a096e
14:24627238 RNF31 GAGA>G	14	24627238	24627247	GAGA	G	RNF31	c.2841+25_2841+27del	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24627245_24627247del	(Likely) benign	1 lab	3febdf9a28
14:32047217 NUBPL T>C	14	32047217	32047217	T	C	NUBPL	c.-12T>C	NM_001201573.2	NP_001188502.1:p.?	NC_000014.8:g.32047217T>C	(Likely) benign	1 lab	cded123247
17:43522833 PLEKHM1 C>T	17	43522833	43522833	C	T	PLEKHM1	c.2837+3G>A	NM_014798.3	NP_055613.1:p.?	NC_000017.10:g.43522833C>T	(Likely) benign	1 lab	3fef109b44
16:81116776 GCSH AC>A	16	81116776	81116778	AC	A	GCSH	c.425-209del	NM_004483.5	NP_004474.2:p.?	NC_000016.9:g.81116778del	(Likely) benign	1 lab	3ff03fc71d
12:21958916 ABCC9 G>A	12	21958916	21958916	G	A	ABCC9	c.4512+16C>T	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.21958916G>A	(Likely) benign	1 lab	3ff9c53ff0
1:228461097 OBSCN C>G	1	228461097	228461097	C	G	OBSCN	c.6111C>G	NM_001271223.2	NP_001258152.2:p.(Asp2037Glu)	NC_000001.10:g.228461097C>G	(Likely) benign	1 lab	3ffa631314
19:55446003 NLRP7 C>T	19	55446003	55446003	C	T	NLRP7	c.2325G>A	NM_001127255.1	NP_001120727.1:p.(Pro775=)	NC_000019.9:g.55446003C>T	(Likely) benign	1 lab	3ffdeda9a4
18:43464657 EPG5 G>A	18	43464657	43464657	G	A	EPG5	c.5229C>T	NM_020964.3	NP_066015.2:p.(Phe1743=)	NC_000018.9:g.43464657G>A	(Likely) benign	1 lab	400136333e
14:97263929 VRK1 T>C	14	97263929	97263929	T	C	VRK1	c.-6+145T>C	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97263929T>C	(Likely) benign	1 lab	4004557a2b
18:56414970 MALT1 G>A	18	56414970	56414970	G	A	MALT1	c.2371G>A	NM_006785.4	NP_006776.1:p.(Ala791Thr)	NC_000018.9:g.56414970G>A	(Likely) benign	1 lab	4008c1ce60
17:73729649 ITGB4 G>A	17	73729649	73729649	G	A	ITGB4	c.1533G>A	NM_000213.5	NP_000204.3:p.(Pro511=)	NC_000017.10:g.73729649G>A	(Likely) benign	1 lab	400ef525ce
2:166747442 TTC21B C>A	2	166747442	166747442	C	A	TTC21B	c.3007G>T	NM_024753.5	NP_079029.3:p.(Glu1003Ter)	NC_000002.11:g.166747442C>A	(Likely) pathogenic	1 lab	4012470387
16:89592690 SPG7 G>A	16	89592690	89592690	G	A	SPG7	c.619-47G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89592690G>A	(Likely) benign	1 lab	4012586200
16:9863110 GRIN2A A>G	16	9863110	9863110	A	G	GRIN2A	c.2357-164T>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9863110A>G	(Likely) benign	1 lab	401c805030
14:67291114 GPHN A>G	14	67291114	67291114	A	G	GPHN	c.202-78A>G	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67291114A>G	(Likely) benign	1 lab	401d8ab859
1:6269021 RNF207 C>T	1	6269021	6269021	C	T	RNF207	c.405C>T	NM_207396.3	NP_997279.2:p.(Arg135=)	NC_000001.10:g.6269021C>T	(Likely) benign	1 lab	401e4a5fd3
5:90004681 ADGRV1 G>A	5	90004681	90004681	G	A	ADGRV1	c.8779G>A	NM_032119.4	NP_115495.3:p.(Val2927Ile)	NC_000005.9:g.90004681G>A	(Likely) benign	1 lab	4023350844
6:31964621 C4A G>GCT	6	31964621	31964624	G	GCT	C4A	c.3694_3695dup	NM_007293.3	NP_009224.2:p.(Val1233GlnfsTer75)	NC_000006.11:g.31964623_31964624dup	(Likely) pathogenic	1 lab	cdf5ad62c6
X:62864047 ARHGEF9 CAA>C	X	62864047	62864061	CAA	C	ARHGEF9	c.1322-121_1322-120del	NM_001353921.2	NP_001340850.1:p.?	NC_000023.10:g.62864060_62864061del	(Likely) benign	1 lab	402d7ea33c
1:154562213 ADAR T>G	1	154562213	154562213	T	G	ADAR	c.1783+20A>C	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154562213T>G	(Likely) benign	1 lab	403f29bf63
9:130592097 ENG G>A	9	130592097	130592097	G	A	ENG	c.229C>T	NM_000118.3	NP_000109.1:p.(Gln77Ter)	NC_000009.11:g.130592097G>A	(Likely) pathogenic	1 lab	404354025d
1:201331162 TNNT2 G>A	1	201331162	201331162	G	A	TNNT2	c.580-12C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331162G>A	(Likely) benign	1 lab	404d88c794
X:21581442 CNKSR2 A>T	X	21581442	21581442	A	T	CNKSR2	c.1480A>T	NM_014927.5	NP_055742.2:p.(Lys494Ter)	NC_000023.10:g.21581442A>T	(Likely) pathogenic	1 lab	404e6b3bd6
3:123345771 MYLK G>A	3	123345771	123345771	G	A	MYLK	c.5132C>T	NM_053025.3	NP_444253.3:p.(Thr1711Met)	NC_000003.11:g.123345771G>A	VUS	1 lab	40561030b2
4:151769952 LRBA C>T	4	151769952	151769952	C	T	LRBA	c.4339+18G>A	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151769952C>T	(Likely) benign	1 lab	405d137072
20:60888242 LAMA5 G>A	20	60888242	60888242	G	A	LAMA5	c.8857C>T	NM_005560.4	NP_005551.3:p.(Arg2953Cys)	NC_000020.10:g.60888242G>A	(Likely) benign	1 lab	4065be86de
16:86545065 FOXF1 C>T	16	86545065	86545065	C	T	FOXF1	c.890C>T	NM_001451.3	NP_001442.2:p.(Ala297Val)	NC_000016.9:g.86545065C>T	(Likely) benign	1 lab	4068c346e9
3:129218830 IFT122 A>C	3	129218830	129218830	A	C	IFT122	c.2447A>C	NM_052985.4	NP_443711.2:p.(Lys816Thr)	NC_000003.11:g.129218830A>C	(Likely) benign	1 lab	4069211ea3
1:181752923 CACNA1E AAGCTT>A	1	181752923	181752935	AAGCTT	A	CACNA1E	c.5470+11_5470+15del	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181752931_181752935del	(Likely) benign	1 lab	406c80311a
9:36923343 PAX5 T>C	9	36923343	36923343	T	C	PAX5	c.910+9A>G	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36923343T>C	(Likely) benign	1 lab	406e8a9fc4
12:110013831 MVK G>C	12	110013831	110013831	G	C	MVK	c.107G>C	NM_000431.2	NP_000422.1:p.(Arg36Thr)	NC_000012.11:g.110013831G>C	(Likely) pathogenic	1 lab	406fa39f5d
8:27321276 CHRNA2 G>A	8	27321276	27321276	G	A	CHRNA2	c.684C>T	NM_000742.4	NP_000733.2:p.(Ser228=)	NC_000008.10:g.27321276G>A	(Likely) benign	1 lab	40723f8827
19:852342 ELANE G>T	19	852342	852342	G	T	ELANE	c.14G>T	NM_001972.2	NP_001963.1:p.(Arg5Leu)	NC_000019.9:g.852342G>T	(Likely) benign	1 lab	40744ca447
17:41223360 BRCA1 A>G	17	41223360	41223360	A	G	BRCA1	c.4676-105T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41223360A>G	(Likely) benign	1 lab	4075bc2667
12:6443021 TNFRSF1A C>G	12	6443021	6443021	C	G	TNFRSF1A	c.204G>C	NM_001065.3	NP_001056.1:p.(Leu68Phe)	NC_000012.11:g.6443021C>G	(Likely) pathogenic	1 lab	40781034b1
11:108100038 ATM T>C	11	108100038	108100038	T	C	ATM	c.319T>C	NM_000051.4	NP_000042.3:p.(Cys107Arg)	NC_000011.9:g.108100038T>C	(Likely) benign	1 lab	cdfbf6d50d
17:41245529 BRCA1 T>C	17	41245529	41245529	T	C	BRCA1	c.2019A>G	NM_007294.3	NP_009225.1:p.(Glu673=)	NC_000017.10:g.41245529T>C	(Likely) benign	1 lab	407e7dadc1
1:247587682 NLRP3 G>A	1	247587682	247587682	G	A	NLRP3	c.931G>A	NM_001243133.2	NP_001230062.1:p.(Glu311Lys)	NC_000001.10:g.247587682G>A	(Likely) pathogenic	1 lab	408159e9e7
16:70296319 AARS1 A>C	16	70296319	70296319	A	C	AARS1	c.1601T>G	NM_001605.3	NP_001596.2:p.(Phe534Cys)	NC_000016.9:g.70296319A>C	VUS	1 lab	cdfcd2e5de
11:62609186 MISSING A>G	11	62609186	62609186	A	G	MISSING				NC_000011.9:g.62609186A>G	VUS	1 lab	cdfcd9a83e
3:186302391 DNAJB11 A>ATTGTGTGTGTGTGTGT	3	186302391	186302392	A	ATTGTGTGTGTGTGTGT	DNAJB11	c.1012+13_1012+14insTTGTGTGTGTGTGTGT	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391_186302392insTTGTGTGTGTGTGTGT	(Likely) benign	1 lab	408806abdc
16:9923266 GRIN2A C>G	16	9923266	9923266	C	G	GRIN2A	c.2007+14G>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9923266C>G	(Likely) benign	1 lab	4089b796aa
16:2150556 PKD1 G>A	16	2150556	2150556	G	A	PKD1	c.9409C>T	NM_001009944.2	NP_001009944.2:p.(His3137Tyr)	NC_000016.9:g.2150556G>A	(Likely) pathogenic	1 lab	4090080c95
16:88801177 PIEZO1 G>C	16	88801177	88801177	G	C	PIEZO1	c.1878C>G	NM_001142864.4	NP_001136336.2:p.(Leu626=)	NC_000016.9:g.88801177G>C	(Likely) benign	1 lab	40958c9eec
20:45338349 SLC2A10 C>T	20	45338349	45338349	C	T	SLC2A10	c.-27C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45338349C>T	(Likely) benign	1 lab	442b2718ca
17:72759575 NHERF1 G>A	17	72759575	72759575	G	A	NHERF1	c.673G>A	NM_004252.5	NP_004243.1:p.(Glu225Lys)	NC_000017.10:g.72759575G>A	(Likely) benign	1 lab	409e76699b
4:79305501 FRAS1 A>G	4	79305501	79305501	A	G	FRAS1	c.3648+204A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79305501A>G	(Likely) benign	1 lab	40a0af6294
3:52676065 PBRM1 C>T	3	52676065	52676065	C	T	PBRM1	c.1050-4G>A	NM_001350077.2	NP_001337006.1:p.?	NC_000003.11:g.52676065C>T	(Likely) benign	1 lab	40a2b4ab07
1:201342324 TNNT2 G>C	1	201342324	201342324	G	C	TNNT2	c.41+18C>G	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201342324G>C	(Likely) benign	1 lab	40a5da5ad6
2:73961676 TPRKB C>T	2	73961676	73961676	C	T	TPRKB	c.21G>A	NM_016058.5	NP_057142.1:p.(Leu7=)	NC_000002.11:g.73961676C>T	(Likely) benign	1 lab	40a90a0a06
17:7806654 CHD3 G>C	17	7806654	7806654	G	C	CHD3	c.3737G>C	NM_001005271.3	NP_001005271.2:p.(Arg1246Pro)	NC_000017.10:g.7806654G>C	(Likely) pathogenic	1 lab	40ba484d75
5:90083836 ADGRV1 G>A	5	90083836	90083836	G	A	ADGRV1	c.13654-52G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90083836G>A	(Likely) benign	1 lab	40c0868758
3:38938393 SCN11A T>C	3	38938393	38938393	T	C	SCN11A	c.2346A>G	NM_014139.3	NP_054858.2:p.(Ala782=)	NC_000003.11:g.38938393T>C	(Likely) benign	1 lab	40c0b00fd2
22:32487590 SLC5A1 C>T	22	32487590	32487590	C	T	SLC5A1	c.1130-9C>T	NM_000343.4	NP_000334.1:p.?	NC_000022.10:g.32487590C>T	(Likely) benign	1 lab	40cbd62ae1
2:179648452 TTN C>T	2	179648452	179648452	C	T	TTN	c.2698G>A	NM_133432.3	NP_597676.3:p.(Val900Ile)	NC_000002.11:g.179648452C>T	VUS	1 lab	40cd181cce
16:81124275 GCSH G>A	16	81124275	81124275	G	A	GCSH	c.159C>T	NM_004483.4	NP_004474.2:p.(Phe53=)	NC_000016.9:g.81124275G>A	(Likely) benign	1 lab	40d0a73cc8
7:92079996 GATAD1 G>GT	7	92079996	92080002	G	GT	GATAD1	c.376-13dup	NM_021167.5	NP_066990.3:p.?	NC_000007.13:g.92080002dup	(Likely) benign	1 lab	40d3cce2bc
20:44053152 PIGT G>A	20	44053152	44053152	G	A	PIGT	c.1417G>A	NM_015937.6	NP_057021.2:p.(Ala473Thr)	NC_000020.10:g.44053152G>A	(Likely) benign	1 lab	40d471fbe0
9:137622171 COL5A1 T>C	9	137622171	137622171	T	C	COL5A1	c.1014T>C	NM_000093.4	NP_000084.3:p.(Tyr338=)	NC_000009.11:g.137622171T>C	(Likely) benign	1 lab	40d78cfdfb
2:228128516 COL4A3 AGAG>A	2	228128516	228128522	AGAG	A	COL4A3	c.1175_1177del	NM_000091.5	NP_000082.2:p.(Gly392del)	NC_000002.11:g.228128520_228128522del	(Likely) pathogenic	1 lab	40dc049a90
16:20352614 UMOD C>T	16	20352614	20352614	C	T	UMOD	c.1376G>A	NM_003361.3	NP_003352.2:p.(Arg459Gln)	NC_000016.9:g.20352614C>T	(Likely) benign	1 lab	40df0f0fd3
10:97983654 BLNK G>T	10	97983654	97983654	G	T	BLNK	c.453C>A	NM_013314.3	NP_037446.1:p.(Ser151=)	NC_000010.10:g.97983654G>T	(Likely) benign	1 lab	40e84df254
12:57493602 STAT6 G>A	12	57493602	57493602	G	A	STAT6	c.1692C>T	NM_001178078.2	NP_001171549.1:p.(Ser564=)	NC_000012.11:g.57493602G>A	(Likely) benign	1 lab	40ea6be395
1:16372291 CLCNKB G>A	1	16372291	16372291	G	A	CLCNKB	c.229+110G>A	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16372291G>A	(Likely) benign	1 lab	40eba4b575
7:128483880 FLNC G>C	7	128483880	128483880	G	C	FLNC	c.2842G>C	NM_001458.5	NP_001449.3:p.(Gly948Arg)	NC_000007.13:g.128483880G>C	VUS	1 lab	ce046e7fd0
8:17813106 PCM1 A>C	8	17813106	17813106	A	C	PCM1	c.1416A>C	NM_006197.4	NP_006188.4:p.(Leu472=)	NC_000008.10:g.17813106A>C	(Likely) benign	1 lab	40ef859108
22:32217378 DEPDC5 A>G	22	32217378	32217378	A	G	DEPDC5	c.1871-110A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32217378A>G	(Likely) benign	1 lab	40f46ad255
11:64504329 RASGRP2 C>T	11	64504329	64504329	C	T	RASGRP2	c.991G>A	NM_153819.1	NP_722541.1:p.(Gly331Arg)	NC_000011.9:g.64504329C>T	(Likely) benign	1 lab	40f54fc2e5
1:179526362 NPHS2 C>T	1	179526362	179526362	C	T	NPHS2	c.538G>A	NM_014625.3	NP_055440.1:p.(Val180Met)	NC_000001.10:g.179526362C>T	(Likely) pathogenic	1 lab	40f55c2904
11:72013383 CLPB T>A	11	72013383	72013383	T	A	CLPB	c.1222A>T	NM_030813.6	NP_110440.1:p.(Arg408Trp)	NC_000011.9:g.72013383T>A	VUS	1 lab	ce07a0ca23
15:42703886 CAPN3 CG>C	15	42703886	42703900	CG	C	CAPN3	c.2440-45del	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42703900del	(Likely) benign	1 lab	40fa064004
1:155160813 MUC1 G>C	1	155160813	155160813	G	C	MUC1	c.741C>G	NM_001204286.1	NP_001191215.1:p.(His247Gln)	NC_000001.10:g.155160813G>C	(Likely) benign	1 lab	40fd145854
18:12703146 PSMG2 G>A	18	12703146	12703146	G	A	PSMG2	c.40G>A	NM_020232.5	NP_064617.2:p.(Gly14Ser)	NC_000018.9:g.12703146G>A	(Likely) benign	1 lab	41011ca404
7:33303901 BBS9 G>T	7	33303901	33303901	G	T	BBS9	c.618-1G>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33303901G>T	(Likely) pathogenic	1 lab	410516bcfa
17:61564080 ACE T>C	17	61564080	61564080	T	C	ACE	c.2217+4T>C	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61564080T>C	VUS	1 lab	4115ca95f6
5:34954668 DNAJC21 T>C	5	34954668	34954668	T	C	DNAJC21	c.1445T>C	NM_001012339.3	NP_001012339.2:p.(Ile482Thr)	NC_000005.9:g.34954668T>C	(Likely) benign	1 lab	41066e4ab5
14:23858868 MYH6 G>A	14	23858868	23858868	G	A	MYH6	c.3793C>T	NM_002471.3	NP_002462.2:p.(Leu1265=)	NC_000014.8:g.23858868G>A	(Likely) benign	1 lab	4107077a09
6:34212743 HMGA1 A>C	6	34212743	34212743	A	C	HMGA1	c.*82A>C	NM_145901.3	NP_665908.1:p.?	NC_000006.11:g.34212743A>C	(Likely) benign	1 lab	ce09561470
4:79300996 FRAS1 G>A	4	79300996	79300996	G	A	FRAS1	c.3409G>A	NM_025074.7	NP_079350.5:p.(Asp1137Asn)	NC_000004.11:g.79300996G>A	(Likely) benign	1 lab	410819c71f
8:17924645 ASAH1 G>T	8	17924645	17924645	G	T	ASAH1	c.430+84C>A	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17924645G>T	(Likely) benign	1 lab	41081c1e14
12:52163896 SCN8A AC>A	12	52163896	52163898	AC	A	SCN8A	c.3490+129del	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52163898del	(Likely) benign	1 lab	4108b56e57
6:152712715 SYNE1 G>GAAAAA	6	152712715	152712729	G	GAAAAA	SYNE1	c.7713-17_7713-13dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712725_152712729dup	(Likely) benign	1 lab	410a4bf4ba
15:59528994 MYO1E AT>A	15	59528994	59529005	AT	A	MYO1E	c.333-124del	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59529005del	(Likely) benign	1 lab	4110da290f
5:161300306 GABRA1 C>G	5	161300306	161300306	C	G	GABRA1	c.439C>G	NM_000806.5	NP_000797.2:p.(Arg147Gly)	NC_000005.9:g.161300306C>G	(Likely) pathogenic	1 lab	4111dbc3fe
16:81819540 PLCG2 C>T	16	81819540	81819540	C	T	PLCG2	c.-47-8C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81819540C>T	(Likely) benign	1 lab	411283783d
17:17698709 RAI1 G>T	17	17698709	17698709	G	T	RAI1	c.2447G>T	NM_030665.4	NP_109590.3:p.(Gly816Val)	NC_000017.10:g.17698709G>T	(Likely) benign	1 lab	4112d1e7e2
17:73723940 ITGB4 C>T	17	73723940	73723940	C	T	ITGB4	c.469+4C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73723940C>T	(Likely) benign	1 lab	411886c5bd
15:93558107 CHD2 A>G	15	93558107	93558107	A	G	CHD2	c.4874A>G	NM_001271.4	NP_001262.3:p.(Asn1625Ser)	NC_000015.9:g.93558107A>G	(Likely) benign	1 lab	41190c1765
9:14806644 FREM1 G>A	9	14806644	14806644	G	A	FREM1	c.3274+15C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14806644G>A	(Likely) benign	1 lab	411a25fa02
7:124491938 POT1 C>T	7	124491938	124491938	C	T	POT1	c.937G>A	NM_015450.3	NP_056265.2:p.(Asp313Asn)	NC_000007.13:g.124491938C>T	(Likely) benign	1 lab	411ba09a1f
9:123723754 C5 G>A	9	123723754	123723754	G	A	C5	c.4588+6C>T	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123723754G>A	(Likely) benign	1 lab	411d6d4197
7:4824020 AP5Z1 A>T	7	4824020	4824020	A	T	AP5Z1	c.790+18A>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4824020A>T	(Likely) benign	1 lab	47099a79ad
10:95557518 LGI1 TAC>T	10	95557518	95557523	TAC	T	LGI1	c.1636_1637del	NM_005097.4	NP_005088.1:p.(Gln546AspfsTer8)	NC_000010.10:g.95557522_95557523del	(Likely) pathogenic	1 lab	411e9250fe
5:38884114 OSMR A>T	5	38884114	38884114	A	T	OSMR	c.604A>T	NM_003999.3	NP_003990.1:p.(Ser202Cys)	NC_000005.9:g.38884114A>T	(Likely) benign	1 lab	411f550da1
1:183542366 NCF2 C>T	1	183542366	183542366	C	T	NCF2	c.563G>A	NM_000433.3	NP_000424.2:p.(Arg188Lys)	NC_000001.10:g.183542366C>T	(Likely) benign	1 lab	412430c446
5:38481859 LIFR A>G	5	38481859	38481859	A	G	LIFR	c.3132T>C	NM_002310.6	NP_002301.1:p.(Ser1044=)	NC_000005.9:g.38481859A>G	(Likely) benign	1 lab	4128002bd9
1:228487853 OBSCN A>G	1	228487853	228487853	A	G	OBSCN	c.13738+7A>G	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228487853A>G	(Likely) benign	1 lab	412b3a489b
2:145187372 ZEB2 T>C	2	145187372	145187372	T	C	ZEB2	c.295A>G	NM_014795.4	NP_055610.1:p.(Asn99Asp)	NC_000002.11:g.145187372T>C	(Likely) benign	1 lab	412b5a0096
12:110032889 MVK T>C	12	110032889	110032889	T	C	MVK	c.942T>C	NM_000431.2	NP_000422.1:p.(Ser314=)	NC_000012.11:g.110032889T>C	(Likely) benign	1 lab	412bad5a8d
18:59768245 PIGN A>C	18	59768245	59768245	A	C	PIGN	c.2077+63T>G	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59768245A>C	(Likely) benign	1 lab	41329fb07c
17:18152096 FLII C>G	17	18152096	18152096	C	G	FLII	c.1985+18G>C	NM_001256264.2	NP_001243193.1:p.?	NC_000017.10:g.18152096C>G	(Likely) benign	1 lab	4155c8abff
16:81892043 PLCG2 GAAAA>G	16	81892043	81892056	GAAAA	G	PLCG2	c.431+92_431+95del	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81892053_81892056del	(Likely) benign	1 lab	4132f512e8
18:77475335 CTDP1 C>T	18	77475335	77475335	C	T	CTDP1	c.1875C>T	NM_004715.4	NP_004706.3:p.(Ile625=)	NC_000018.9:g.77475335C>T	(Likely) benign	1 lab	413d5fd43b
2:228109731 COL4A3 C>T	2	228109731	228109731	C	T	COL4A3	c.324+20C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228109731C>T	(Likely) benign	1 lab	413f6a913d
2:220284717 DES G>C	2	220284717	220284717	G	C	DES	c.579-100G>C	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220284717G>C	(Likely) benign	1 lab	41426309ce
3:188592145 LPP G>A	3	188592145	188592145	G	A	LPP	c.1717G>A	NM_005578.5	NP_005569.1:p.(Gly573Ser)	NC_000003.11:g.188592145G>A	(Likely) benign	1 lab	414281a1b9
12:34179125 ALG10 A>C	12	34179125	34179125	A	C	ALG10	c.697A>C	NM_032834.4	NP_116223.3:p.(Ile233Leu)	NC_000012.11:g.34179125A>C	VUS	1 lab	ce1201047e
10:17113623 CUBN A>C	10	17113623	17113623	A	C	CUBN	c.2447-20T>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17113623A>C	(Likely) benign	1 lab	4147fdc835
2:166153475 SCN2A T>C	2	166153475	166153475	T	C	SCN2A	c.268-52T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166153475T>C	(Likely) benign	1 lab	4149381e7c
8:27321189 CHRNA2 G>A	8	27321189	27321189	G	A	CHRNA2	c.771C>T	NM_000742.4	NP_000733.2:p.(Tyr257=)	NC_000008.10:g.27321189G>A	(Likely) benign	1 lab	414ac83eca
12:6443001 TNFRSF1A G>A	12	6443001	6443001	G	A	TNFRSF1A	c.224C>T	NM_001065.3	NP_001056.1:p.(Pro75Leu)	NC_000012.11:g.6443001G>A	(Likely) benign	1 lab	414d00c9b1
13:52511706 ATP7B T>C	13	52511706	52511706	T	C	ATP7B	c.3809A>G	NM_000053.4	NP_000044.2:p.(Asn1270Ser)	NC_000013.10:g.52511706T>C	(Likely) pathogenic	1 lab	4151072698
4:187542427 FAT1 T>C	4	187542427	187542427	T	C	FAT1	c.5313A>G	NM_005245.4	NP_005236.2:p.(Thr1771=)	NC_000004.11:g.187542427T>C	(Likely) benign	1 lab	4151d2d4a9
2:227927236 COL4A4 T>C	2	227927236	227927236	T	C	COL4A4	c.2056+10A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227927236T>C	(Likely) benign	1 lab	41528c3a58
19:18173093 IL12RB1 G>A	19	18173093	18173093	G	A	IL12RB1	c.1739-6C>T	NM_001290024.1	NP_001276953.1:p.?	NC_000019.9:g.18173093G>A	(Likely) benign	1 lab	415295271b
1:120254506 PHGDH A>G	1	120254506	120254506	A	G	PHGDH				NC_000001.10:g.120254506A>G	(Likely) benign	1 lab	41532f8cff
14:24617640 RNF31 T>C	14	24617640	24617640	T	C	RNF31	c.495+18T>C	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24617640T>C	(Likely) benign	1 lab	41568e4dda
3:9960273 IL17RC G>C	3	9960273	9960273	G	C	IL17RC	c.658G>C	NM_153461.4	NP_703191.2:p.(Val220Leu)	NC_000003.11:g.9960273G>C	(Likely) benign	1 lab	415a600059
X:53440395 SMC1A G>A	X	53440395	53440395	G	A	SMC1A	c.412-10C>T	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53440395G>A	(Likely) benign	1 lab	415aa9bac0
15:77329721 PSTPIP1 G>A	15	77329721	77329721	G	A	PSTPIP1	n.1635G>A	NR_135552.2		NC_000015.9:g.77329721G>A	(Likely) benign	1 lab	415f3371a7
12:67197631 GRIP1 G>C	12	67197631	67197631	G	C	GRIP1	c.133+202C>G	NM_001366724.1	NP_001353653.1:p.?	NC_000012.11:g.67197631G>C	(Likely) benign	1 lab	416109dd7c
9:131388978 SPTAN1 G>A	9	131388978	131388978	G	A	SPTAN1	c.6576+12G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131388978G>A	(Likely) benign	1 lab	41652d305d
1:155263320 PKLR T>C	1	155263320	155263320	T	C	PKLR	c.1178A>G	NM_000298.6	NP_000289.1:p.(Asn393Ser)	NC_000001.10:g.155263320T>C	(Likely) pathogenic	1 lab	41654a0d54
15:86273756 AKAP13 A>G	15	86273756	86273756	A	G	AKAP13	c.7112A>G	NM_006738.6	NP_006729.4:p.(Gln2371Arg)	NC_000015.9:g.86273756A>G	(Likely) benign	1 lab	41682a07ad
19:14883170 ADGRE2 G>A	19	14883170	14883170	G	A	ADGRE2	c.339C>T	NM_013447.4	NP_038475.2:p.(Ser113=)	NC_000019.9:g.14883170G>A	(Likely) benign	1 lab	4168864a4d
14:105169710 INF2 A>T	14	105169710	105169710	A	T	INF2	c.586A>T	NM_022489.3	NP_071934.3:p.(Thr196Ser)	NC_000014.8:g.105169710A>T	VUS	1 lab	41730eb6cb
14:77493367 IRF2BPL G>A	14	77493367	77493367	G	A	IRF2BPL	c.769C>T	NM_024496.4	NP_078772.1:p.(Leu257=)	NC_000014.8:g.77493367G>A	(Likely) benign	1 lab	4179b41258
14:65246006 SPTB G>A	14	65246006	65246006	G	A	SPTB	c.4474-42C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65246006G>A	(Likely) benign	1 lab	417cc40b6d
12:109540693 UNG C>A	12	109540693	109540693	C	A	UNG				NC_000012.11:g.109540693C>A	(Likely) benign	1 lab	417e83dfb2
18:2921514 LPIN2 G>A	18	2921514	2921514	G	A	LPIN2	c.2442+17C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2921514G>A	(Likely) benign	1 lab	417f4633be
12:32975544 PKP2 T>G	12	32975544	32975544	T	G	PKP2	c.1828A>C	NM_004572.3	NP_004563.2:p.(Ile610Leu)	NC_000012.11:g.32975544T>G	VUS	1 lab	418701125d
13:73428310 PIBF1 T>C	13	73428310	73428310	T	C	PIBF1	c.1322+17T>C	NM_006346.3	NP_006337.2:p.?	NC_000013.10:g.73428310T>C	(Likely) benign	1 lab	4188be3c94
10:97154830 SORBS1 T>C	10	97154830	97154830	T	C	SORBS1				NC_000010.10:g.97154830T>C	(Likely) benign	1 lab	4189bcbb53
11:119077081 CBL T>TCGAGC	11	119077081	119077093	T	TCGAGC	CBL	c.-39_-35dup	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119077089_119077093dup	(Likely) benign	1 lab	418b7afdc5
16:81939132 PLCG2 C>T	16	81939132	81939132	C	T	PLCG2	c.1467+20C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81939132C>T	(Likely) benign	1 lab	418c6218a7
1:160012270 KCNJ10 C>T	1	160012270	160012270	C	T	KCNJ10	c.53G>A	NM_002241.5	NP_002232.2:p.(Arg18Gln)	NC_000001.10:g.160012270C>T	(Likely) benign	1 lab	418edf209c
X:128977654 ZDHHC9 G>GCC	X	128977654	128977659	G	GCC	ZDHHC9	c.-204+16_-204+17dup	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128977658_128977659dup	VUS	1 lab	419115596b
7:158705741 DYNC2I1 G>A	7	158705741	158705741	G	A	DYNC2I1	c.1656G>A	NM_018051.5	NP_060521.4:p.(Arg552=)	NC_000007.13:g.158705741G>A	(Likely) benign	1 lab	4194e8ff81
2:50758309 NRXN1 C>CA	2	50758309	50758312	C	CA	NRXN1	c.2347+55dup	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50758312dup	(Likely) benign	1 lab	476a6fc8a4
4:88986546 PKD2 C>T	4	88986546	88986546	C	T	PKD2	c.2139C>T	NM_000297.4	NP_000288.1:p.(Val713=)	NC_000004.11:g.88986546C>T	(Likely) benign	1 lab	41989004dd
10:96350249 HELLS A>T	10	96350249	96350249	A	T	HELLS	c.1568A>T	NM_018063.5	NP_060533.2:p.(Asp523Val)	NC_000010.10:g.96350249A>T	(Likely) benign	1 lab	419a4c51bb
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTTTTTTTGTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTGTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTTTGTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTTTTTTTGTT	(Likely) benign	1 lab	41a12441aa
11:64519146 PYGM G>T	11	64519146	64519146	G	T	PYGM	c.1769-19C>A	NM_005609.4	NP_005600.1:p.?	NC_000011.9:g.64519146G>T	(Likely) benign	1 lab	41a47e5143
2:189910510 COL5A2 T>C	2	189910510	189910510	T	C	COL5A2	c.3309+16A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189910510T>C	(Likely) benign	1 lab	41a614fb3d
2:224640674 AP1S3 A>C	2	224640674	224640674	A	C	AP1S3	c.235T>G	NM_001039569.2	NP_001034658.1:p.(Leu79Val)	NC_000002.11:g.224640674A>C	(Likely) benign	1 lab	41a6e49c2b
11:6654042 DCHS1 C>T	11	6654042	6654042	C	T	DCHS1	c.2701G>A	NM_003737.4	NP_003728.1:p.(Val901Ile)	NC_000011.9:g.6654042C>T	(Likely) benign	1 lab	41a6e9877d
13:39433606 FREM2 A>G	13	39433606	39433606	A	G	FREM2	c.7398A>G	NM_207361.6	NP_997244.4:p.(Thr2466=)	NC_000013.10:g.39433606A>G	(Likely) benign	1 lab	41af51b33f
1:43395724 SLC2A1 C>T	1	43395724	43395724	C	T	SLC2A1	c.517-18G>A	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43395724C>T	(Likely) benign	1 lab	41b67ae62b
X:103031830 PLP1 G>A	X	103031830	103031830	G	A	PLP1	c.-94G>A	NM_000533.5	NP_000524.3:p.?	NC_000023.10:g.103031830G>A	(Likely) benign	1 lab	41bd9db652
17:73830990 UNC13D A>G	17	73830990	73830990	A	G	UNC13D	c.1992+11T>C	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73830990A>G	(Likely) benign	1 lab	41c10781b4
17:42335984 SLC4A1 C>T	17	42335984	42335984	C	T	SLC4A1	c.884G>A	NM_000342.4	NP_000333.1:p.(Arg295His)	NC_000017.10:g.42335984C>T	(Likely) benign	1 lab	41c41b425a
X:128948638 ZDHHC9 G>A	X	128948638	128948638	G	A	ZDHHC9	c.621C>T	NM_016032.4	NP_057116.2:p.(Ala207=)	NC_000023.10:g.128948638G>A	(Likely) benign	1 lab	41c5432ce3
16:3297075 MEFV C>T	16	3297075	3297075	C	T	MEFV	c.1528G>A	NM_000243.2	NP_000234.1:p.(Asp510Asn)	NC_000016.9:g.3297075C>T	VUS	1 lab	41cef5b971
16:20352584 UMOD G>A	16	20352584	20352584	G	A	UMOD	c.1406C>T	NM_003361.3	NP_003352.2:p.(Thr469Met)	NC_000016.9:g.20352584G>A	(Likely) benign	1 lab	41cfe8c196
19:2112928 AP3D1 G>A	19	2112928	2112928	G	A	AP3D1	c.2718C>T	NM_001261826.3	NP_001248755.1:p.(Asp906=)	NC_000019.9:g.2112928G>A	(Likely) benign	1 lab	41d813c00e
12:124181748 TCTN2 G>C	12	124181748	124181748	G	C	TCTN2	c.1505+3G>C	NM_024809.5	NP_079085.2:p.?	NC_000012.11:g.124181748G>C	(Likely) benign	1 lab	41d8eea892
1:247587528 NLRP3 T>G	1	247587528	247587528	T	G	NLRP3	c.777T>G	NM_001243133.2	NP_001230062.1:p.(Cys259Trp)	NC_000001.10:g.247587528T>G	(Likely) pathogenic	1 lab	41dd6520b8
16:81124304 GCSH A>G	16	81124304	81124304	A	G	GCSH	c.149-19T>C	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81124304A>G	(Likely) benign	1 lab	41e0bbbd2b
2:179404290 TTN C>G	2	179404290	179404290	C	G	TTN	c.98502G>C	NM_001267550.1	NP_001254479.1:p.(Glu32834Asp)	NC_000002.11:g.179404290C>G	VUS	1 lab	41e2fc1299
9:35091616 PIGO C>T	9	35091616	35091616	C	T	PIGO	c.2268G>A	NM_032634.4	NP_116023.2:p.(Ala756=)	NC_000009.11:g.35091616C>T	(Likely) benign	1 lab	41e3f713ac
19:46269851 SIX5 G>A	19	46269851	46269851	G	A	SIX5	c.1366C>T	NM_175875.4	NP_787071.2:p.(Leu456Phe)	NC_000019.9:g.46269851G>A	(Likely) benign	1 lab	422c8295c1
6:7563957 DSP G>A	6	7563957	7563957	G	A	DSP	c.727-12G>A	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7563957G>A	(Likely) benign	1 lab	41e7ddc2a1
14:45501597 TOGARAM1 A>G	14	45501597	45501597	A	G	TOGARAM1	c.3812+18A>G	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45501597A>G	(Likely) benign	1 lab	41eb60aaca
20:14307019 FLRT3 T>G	20	14307019	14307019	T	G	FLRT3	c.1134A>C	NM_198391.3	NP_938205.1:p.(Gln378His)	NC_000020.10:g.14307019T>G	(Likely) benign	1 lab	41ecf5303d
19:18180407 IL12RB1 G>T	19	18180407	18180407	G	T	IL12RB1	c.1138C>A	NM_005535.1	NP_005526.1:p.(Leu380Ile)	NC_000019.9:g.18180407G>T	(Likely) benign	1 lab	41eda32061
15:51791130 DMXL2 G>A	15	51791130	51791130	G	A	DMXL2				NC_000015.9:g.51791130G>A	(Likely) benign	1 lab	41efbf39cb
5:131039955 FNIP1 T>C	5	131039955	131039955	T	C	FNIP1	c.919A>G	NM_133372.3	NP_588613.3:p.(Ile307Val)	NC_000005.9:g.131039955T>C	(Likely) benign	1 lab	41f1fcb9af
16:11001887 CIITA T>C	16	11001887	11001887	T	C	CIITA	c.2538T>C	NM_000246.3	NP_000237.2:p.(His846=)	NC_000016.9:g.11001887T>C	(Likely) benign	1 lab	41f601bdd4
6:112513006 LAMA4 A>C	6	112513006	112513006	A	C	LAMA4	c.550T>G	NM_001105206.3	NP_001098676.2:p.(Cys184Gly)	NC_000006.11:g.112513006A>C	VUS	1 lab	41f8074968
9:139402675 NOTCH1 G>T	9	139402675	139402675	G	T	NOTCH1	c.3325+9C>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139402675G>T	(Likely) benign	1 lab	41fc400f98
9:130442584 STXBP1 G>A	9	130442584	130442584	G	A	STXBP1	c.1547+63G>A	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130442584G>A	(Likely) benign	1 lab	41fc5d0970
19:39220016 ACTN4 G>A	19	39220016	39220016	G	A	ACTN4	c.2680G>A	NM_004924.6	NP_004915.2:p.(Gly894Ser)	NC_000019.9:g.39220016G>A	(Likely) benign	1 lab	4200f228e9
17:48072225 DLX3 G>A	17	48072225	48072225	G	A	DLX3	c.138C>T	NM_005220.2	NP_005211.1:p.(Pro46=)	NC_000017.10:g.48072225G>A	(Likely) benign	1 lab	420210099e
19:42776823 CIC C>G	19	42776823	42776823	C	G	CIC	c.888C>G	NM_001304815.1	NP_001291744.1:p.(Tyr296Ter)	NC_000019.9:g.42776823C>G	(Likely) pathogenic	1 lab	420623a09f
10:78729785 KCNMA1 CT>C	10	78729785	78729794	CT	C	KCNMA1	c.2306del	NM_001161352.2	NP_001154824.1:p.(Lys769SerfsTer17)	NC_000010.10:g.78729794del	(Likely) pathogenic	1 lab	42076c2978
2:228135504 COL4A3 G>C	2	228135504	228135504	G	C	COL4A3	c.1594G>C	NM_000091.4	NP_000082.2:p.(Gly532Arg)	NC_000002.11:g.228135504G>C	(Likely) pathogenic	1 lab	420889f939
17:78181958 CARD14 C>T	17	78181958	78181958	C	T	CARD14	c.2829C>T	NM_024110.4	NP_077015.2:p.(Gly943=)	NC_000017.10:g.78181958C>T	(Likely) benign	1 lab	420fe8f155
4:79294021 FRAS1 G>A	4	79294021	79294021	G	A	FRAS1	c.3010+9G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79294021G>A	(Likely) benign	1 lab	42135ee03a
14:65262425 SPTB C>A	14	65262425	65262425	C	A	SPTB	c.1342-68G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65262425C>A	(Likely) benign	1 lab	421a9a1076
15:48704963 FBN1 A>G	15	48704963	48704963	A	G	FBN1	c.8052-23T>C	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48704963A>G	(Likely) benign	1 lab	421ccb6ae7
X:99662473 PCDH19 C>A	X	99662473	99662473	C	A	PCDH19	c.1123G>T	NM_001184880.2	NP_001171809.1:p.(Asp375Tyr)	NC_000023.10:g.99662473C>A	(Likely) pathogenic	1 lab	421ce3e9a0
10:78944568 KCNMA1 T>C	10	78944568	78944568	T	C	KCNMA1	c.696+13A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78944568T>C	(Likely) benign	1 lab	421e9fe5da
4:88929453 PKD2 G>A	4	88929453	88929453	G	A	PKD2	c.568G>A	NM_000297.4	NP_000288.1:p.(Ala190Thr)	NC_000004.11:g.88929453G>A	(Likely) benign	1 lab	421fbed02e
1:43396030 SLC2A1 T>C	1	43396030	43396030	T	C	SLC2A1	c.516+267A>G	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43396030T>C	(Likely) benign	1 lab	42224923ca
20:2638730 NOP56 C>T	20	2638730	2638730	C	T	NOP56	c.1575C>T	NM_006392.4	NP_006383.2:p.(Thr525=)	NC_000020.10:g.2638730C>T	(Likely) benign	1 lab	42227a3478
13:52585881 ATP7B A>G	13	52585881	52585881	A	G	ATP7B				NC_000013.10:g.52585881A>G	(Likely) pathogenic	1 lab	4225ea3f08
12:88524252 CEP290 C>T	12	88524252	88524252	C	T	CEP290	c.517-55G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88524252C>T	(Likely) benign	1 lab	422ab8c604
16:1270254 CACNA1H G>A	16	1270254	1270254	G	A	CACNA1H	c.6322G>A	NM_021098.3	NP_066921.2:p.(Ala2108Thr)	NC_000016.9:g.1270254G>A	(Likely) benign	1 lab	422b27f2ba
X:154182236 F8 G>A	X	154182236	154182236	G	A	F8	c.1834C>T	NM_000132.3	NP_000123.1:p.(Arg612Cys)	NC_000023.10:g.154182236G>A	(Likely) pathogenic	1 lab	422df57fd3
X:21516135 CNKSR2 CT>C	X	21516135	21516144	CT	C	CNKSR2	c.741+180del	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21516144del	(Likely) benign	1 lab	422e564c23
12:41337420 CNTN1 T>C	12	41337420	41337420	T	C	CNTN1	c.1401T>C	NM_001843.4	NP_001834.2:p.(Gly467=)	NC_000012.11:g.41337420T>C	(Likely) benign	1 lab	4231c9e2ea
18:43505812 EPG5 A>C	18	43505812	43505812	A	C	EPG5	c.2610T>G	NM_020964.3	NP_066015.2:p.(Ser870=)	NC_000018.9:g.43505812A>C	(Likely) benign	1 lab	423334dce9
5:142780212 NR3C1 A>C	5	142780212	142780212	A	C	NR3C1	c.193T>G	NM_001018077.1	NP_001018087.1:p.(Phe65Val)	NC_000005.9:g.142780212A>C	(Likely) benign	1 lab	4234f6d496
2:217285104 SMARCAL1 C>G	2	217285104	217285104	C	G	SMARCAL1	c.945C>G	NM_014140.3	NP_054859.2:p.(Ser315Arg)	NC_000002.11:g.217285104C>G	(Likely) benign	1 lab	423e18c7fc
15:83328614 AP3B2 C>T	15	83328614	83328614	C	T	AP3B2	c.3138G>A	NM_001278512.2	NP_001265441.1:p.(Gly1046=)	NC_000015.9:g.83328614C>T	(Likely) benign	1 lab	423ebdafb9
15:77328176 PSTPIP1 G>A	15	77328176	77328176	G	A	PSTPIP1	c.1019G>A	NM_003978.3	NP_003969.2:p.(Arg340Gln)	NC_000015.9:g.77328176G>A	(Likely) benign	1 lab	4241164c2e
18:60025458 TNFRSF11A GTT>G	18	60025458	60025473	GTT	G	TNFRSF11A	c.428-9_428-8del	NM_003839.4	NP_003830.1:p.?	NC_000018.9:g.60025472_60025473del	(Likely) benign	1 lab	4244c27442
19:54407909 PRKCG CGAG>C	19	54407909	54407918	CGAG	C	PRKCG	c.1684_1686del	NM_002739.5	NP_002730.1:p.(Glu562del)	NC_000019.9:g.54407916_54407918del	VUS	1 lab	4244c768d5
1:228404818 OBSCN G>T	1	228404818	228404818	G	T	OBSCN	c.2482G>T	NM_001271223.2	NP_001258152.2:p.(Val828Leu)	NC_000001.10:g.228404818G>T	(Likely) benign	1 lab	424b8d9e99
20:61978229 CHRNA4 C>T	20	61978229	61978229	C	T	CHRNA4	c.1759-14G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61978229C>T	(Likely) benign	1 lab	42502fc4bc
1:155263377 PKLR A>G	1	155263377	155263377	A	G	PKLR	c.1121T>C	NM_000298.6	NP_000289.1:p.(Leu374Pro)	NC_000001.10:g.155263377A>G	VUS	1 lab	425686f2c9
12:52912909 KRT5 G>T	12	52912909	52912909	G	T	KRT5	c.591C>A	NM_000424.4	NP_000415.2:p.(Asp197Glu)	NC_000012.11:g.52912909G>T	(Likely) benign	1 lab	ce13a4a64c
11:61541429 MYRF G>GC	11	61541429	61541436	G	GC	MYRF	c.1116-3dup	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61541436dup	(Likely) benign	1 lab	425866d527
17:46024254 PNPO A>T	17	46024254	46024254	A	T	PNPO	c.*106A>T	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46024254A>T	(Likely) benign	1 lab	425a4d37c3
2:166164326 SCN2A A>G	2	166164326	166164326	A	G	SCN2A	c.387-32A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166164326A>G	VUS	1 lab	425bfa0db1
3:121295729 ARGFX C>T	3	121295729	121295729	C	T	ARGFX	c.202C>T	NM_001012659.2	NP_001012677.1:p.(Arg68Ter)	NC_000003.11:g.121295729C>T	(Likely) pathogenic	1 lab	425ee5331d
11:68566834 CPT1A TG>T	11	68566834	68566839	TG	T	CPT1A	c.556-12del	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68566839del	(Likely) benign	1 lab	426006933c
21:44841609 SIK1 G>A	21	44841609	44841609	G	A	SIK1	c.408C>T	NM_173354.5	NP_775490.2:p.(Ala136=)	NC_000021.8:g.44841609G>A	(Likely) benign	1 lab	4260e04ccb
5:89975202 ADGRV1 A>G	5	89975202	89975202	A	G	ADGRV1	c.5444-164A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975202A>G	(Likely) benign	1 lab	42634b40b4
16:30974811 SETD1A CTG>C	16	30974811	30974815	CTG	C	SETD1A	c.578_579del	NM_014712.3	NP_055527.1:p.(Val193AlafsTer9)	NC_000016.9:g.30974814_30974815del	(Likely) pathogenic	1 lab	4268e1a1c1
12:49420213 KMT2D C>T	12	49420213	49420213	C	T	KMT2D	c.15536G>A	NM_003482.3	NP_003473.3:p.(Arg5179His)	NC_000012.11:g.49420213C>T	(Likely) pathogenic	1 lab	42706135c1
1:43890538 SZT2 G>T	1	43890538	43890538	G	T	SZT2	c.2550+5G>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43890538G>T	(Likely) benign	1 lab	4358d284be
2:179452724 TTN T>C	2	179452724	179452724	T	C	TTN	c.63410A>G	NM_001267550.1	NP_001254479.1:p.(Glu21137Gly)	NC_000002.11:g.179452724T>C	(Likely) pathogenic	1 lab	42735444e5
8:48868509 PRKDC C>A	8	48868509	48868509	C	A	PRKDC	c.325-1G>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48868509C>A	VUS	1 lab	4277f1ef65
X:153357654 MECP2 A>T	X	153357654	153357654	A	T	MECP2	c.14T>A	NM_004992.4	NP_004983.1:p.(Met5Lys)	NC_000023.10:g.153357654A>T	VUS	1 lab	ce14c63b7c
4:151835497 LRBA TA>T	4	151835497	151835501	TA	T	LRBA	c.1015-5del	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151835501del	(Likely) benign	1 lab	427de356bb
5:228269 SDHA C>T	5	228269	228269	C	T	SDHA	c.622-31C>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228269C>T	(Likely) benign	1 lab	42847be89e
6:51875133 PKHD1 G>A	6	51875133	51875133	G	A	PKHD1	c.5725C>T	NM_138694.4	NP_619639.3:p.(Arg1909Trp)	NC_000006.11:g.51875133G>A	(Likely) benign	1 lab	4285110e9f
17:48152812 ITGA3 C>T	17	48152812	48152812	C	T	ITGA3	c.1470-11C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48152812C>T	(Likely) benign	1 lab	42854d0f19
5:140907266 DIAPH1 TA>T	5	140907266	140907289	TA	T	DIAPH1	c.3149-3del	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907289del	(Likely) benign	1 lab	42863ef7a3
15:43433932 TMEM62 G>C	15	43433932	43433932	G	C	TMEM62	c.476+3115G>C	NM_024956.4	NP_079232.3:p.?	NC_000015.9:g.43433932G>C	(Likely) benign	1 lab	4286761ebd
9:740769 KANK1 C>CT	9	740769	740787	C	CT	KANK1	c.3554-5dup	NM_015158.4	NP_055973.2:p.?	NC_000009.11:g.740787dup	(Likely) benign	1 lab	4289f0b203
9:5055681 JAK2 T>C	9	5055681	5055681	T	C	JAK2	c.949T>C	NM_001322194.1	NP_001309123.1:p.(Tyr317His)	NC_000009.11:g.5055681T>C	VUS	1 lab	428b69d80b
11:118373313 KMT2A G>A	11	118373313	118373313	G	A	KMT2A	c.6706G>A	NM_001197104.1	NP_001184033.1:p.(Ala2236Thr)	NC_000011.9:g.118373313G>A	(Likely) benign	1 lab	428bd8d7db
12:125432717 DHX37 G>A	12	125432717	125432717	G	A	DHX37	c.3301C>T	NM_032656.4	NP_116045.2:p.(Arg1101Cys)	NC_000012.11:g.125432717G>A	VUS	1 lab	ce165e2a7e
21:34948114 SON T>G	21	34948114	34948114	T	G	SON	c.7136T>G	NM_138927.4	NP_620305.3:p.(Ile2379Ser)	NC_000021.8:g.34948114T>G	VUS	1 lab	ce1d102c0c
11:64573803 MEN1 T>C	11	64573803	64573803	T	C	MEN1	c.965A>G	NM_130803.2	NP_570715.1:p.(His322Arg)	NC_000011.9:g.64573803T>C	(Likely) pathogenic	1 lab	429837777a
5:482786 SLC9A3 G>A	5	482786	482786	G	A	SLC9A3	c.1233C>T	NM_004174.4	NP_004165.2:p.(Tyr411=)	NC_000005.9:g.482786G>A	(Likely) benign	1 lab	429917a54b
1:167823663 ADCY10 G>A	1	167823663	167823663	G	A	ADCY10	c.2236C>T	NM_018417.6	NP_060887.2:p.(His746Tyr)	NC_000001.10:g.167823663G>A	(Likely) benign	1 lab	42a812a567
1:32716986 LCK G>A	1	32716986	32716986	G	A	LCK	c.-6+14G>A	NM_005356.5	NP_005347.3:p.?	NC_000001.10:g.32716986G>A	(Likely) benign	1 lab	42ad0b3b04
11:18316720 HPS5 G>C	11	18316720	18316720	G	C	HPS5	c.1635-4C>G	NM_181507.1	NP_852608.1:p.?	NC_000011.9:g.18316720G>C	(Likely) benign	1 lab	42b12d5bb0
22:17566045 IL17RA C>T	22	17566045	17566045	C	T	IL17RA	c.64C>T	NM_014339.6	NP_055154.3:p.(Leu22Phe)	NC_000022.10:g.17566045C>T	(Likely) benign	1 lab	42b2005ac7
10:97023640 PDLIM1 C>T	10	97023640	97023640	C	T	PDLIM1	c.514G>A	NM_020992.4	NP_066272.1:p.(Val172Met)	NC_000010.10:g.97023640C>T	(Likely) benign	1 lab	42b5d81372
15:77325311 PSTPIP1 G>A	15	77325311	77325311	G	A	PSTPIP1	c.929+18G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77325311G>A	(Likely) benign	1 lab	42b7e9e102
8:48691639 PRKDC C>T	8	48691639	48691639	C	T	PRKDC	c.11505G>A	NM_006904.6	NP_008835.5:p.(Pro3835=)	NC_000008.10:g.48691639C>T	(Likely) benign	1 lab	42c04b1c3c
2:179449547 TTN C>T	2	179449547	179449547	C	T	TTN	c.64821G>A	NM_001267550.2	NP_001254479.2:p.(Trp21607Ter)	NC_000002.11:g.179449547C>T	(Likely) pathogenic	1 lab	ce1eb18087
6:144507712 STX11 T>A	6	144507712	144507712	T	A	STX11	c.-5-48T>A	NM_003764.3	NP_003755.2:p.?	NC_000006.11:g.144507712T>A	(Likely) benign	1 lab	42c134d35d
14:102910058 TECPR2 C>T	14	102910058	102910058	C	T	TECPR2	c.2827C>T	NM_014844.5	NP_055659.2:p.(Arg943Trp)	NC_000014.8:g.102910058C>T	VUS	1 lab	ce206099f0
2:223436607 FARSB C>T	2	223436607	223436607	C	T	FARSB	c.1753G>A	NM_005687.5	NP_005678.3:p.(Val585Ile)	NC_000002.11:g.223436607C>T	(Likely) benign	1 lab	42c1ee0501
9:135776034 TSC1 C>T	9	135776034	135776034	C	T	TSC1	c.2625+68G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135776034C>T	(Likely) benign	1 lab	42c48582c7
X:1428477 CSF2RA A>T	X	1428477	1428477	A	T	CSF2RA	c.1129A>T	NM_172246.3	NP_758449.1:p.(Ile377Phe)	NC_000023.10:g.1428477A>T	(Likely) benign	1 lab	42c6dfc16f
1:11861203 MTHFR G>A	1	11861203	11861203	G	A	MTHFR	c.475+15C>T	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11861203G>A	(Likely) benign	1 lab	42c9213065
17:62028889 SCN4A G>C	17	62028889	62028889	G	C	SCN4A	c.2748C>G	NM_000334.4	NP_000325.4:p.(Asn916Lys)	NC_000017.10:g.62028889G>C	(Likely) benign	1 lab	42cef9d6af
1:16043308 PLEKHM2 C>T	1	16043308	16043308	C	T	PLEKHM2	c.274C>T	NM_015164.4	NP_055979.2:p.(Arg92Cys)	NC_000001.10:g.16043308C>T	VUS	1 lab	42d3353ef4
3:10188309 VHL T>C	3	10188309	10188309	T	C	VHL	c.452T>C	NM_000551.3	NP_000542.1:p.(Ile151Thr)	NC_000003.11:g.10188309T>C	VUS	1 lab	42d7f37b2a
11:118638952 DDX6 G>T	11	118638952	118638952	G	T	DDX6	c.478C>A	NM_004397.6	NP_004388.2:p.(Leu160Met)	NC_000011.9:g.118638952G>T	VUS	1 lab	ce206b1e51
21:47418728 COL6A1 C>CT	21	47418728	47418731	C	CT	COL6A1	c.1612-80dup	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47418731dup	(Likely) benign	1 lab	42e1ba3389
4:114262877 ANK2 A>G	4	114262877	114262877	A	G	ANK2	c.3927A>G	NM_001148.4	NP_001139.3:p.(Glu1309=)	NC_000004.11:g.114262877A>G	(Likely) benign	1 lab	42e577ff61
7:150648092 KCNH2 G>A	7	150648092	150648092	G	A	KCNH2	c.2062C>T	NM_000238.3	NP_000229.1:p.(Gln688Ter)	NC_000007.13:g.150648092G>A	(Likely) pathogenic	1 lab	42e788e321
22:36716253 MYH9 C>G	22	36716253	36716253	C	G	MYH9	c.1012+12G>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36716253C>G	(Likely) benign	1 lab	42edb066c6
8:17824641 PCM1 A>G	8	17824641	17824641	A	G	PCM1	c.3374A>G	NM_006197.4	NP_006188.4:p.(Asn1125Ser)	NC_000008.10:g.17824641A>G	(Likely) benign	1 lab	42f27a0666
4:79458303 FRAS1 G>A	4	79458303	79458303	G	A	FRAS1	c.11247G>A	NM_025074.7	NP_079350.5:p.(Gln3749=)	NC_000004.11:g.79458303G>A	(Likely) benign	1 lab	42f2c1f5d9
17:10432169 MYH2 T>C	17	10432169	10432169	T	C	MYH2	c.3582A>G	NM_017534.6	NP_060004.3:p.(Thr1194=)	NC_000017.10:g.10432169T>C	(Likely) benign	1 lab	42f5901073
1:247593142 NLRP3 A>G	1	247593142	247593142	A	G	NLRP3	c.2321+85A>G	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247593142A>G	(Likely) benign	1 lab	42f66afe05
3:15686975 BTD C>A	3	15686975	15686975	C	A	BTD	c.1552C>A	NM_001281723.3	NP_001268652.2:p.(Arg518Ser)	NC_000003.11:g.15686975C>A	(Likely) pathogenic	1 lab	42f6a28835
16:27689198 KATNIP G>A	16	27689198	27689198	G	A	KATNIP	c.689G>A	NM_015202.3	NP_056017.3:p.(Arg230His)	NC_000016.9:g.27689198G>A	(Likely) benign	1 lab	42f6dc9441
1:228456382 OBSCN A>C	1	228456382	228456382	A	C	OBSCN	c.5565A>C	NM_001271223.2	NP_001258152.2:p.(Lys1855Asn)	NC_000001.10:g.228456382A>C	(Likely) benign	1 lab	42f70c40db
13:23929592 SACS C>T	13	23929592	23929592	C	T	SACS	c.1159G>A	NM_014363.6	NP_055178.3:p.(Ala387Thr)	NC_000013.10:g.23929592C>T	VUS	1 lab	42f817c1c1
8:41530482 ANK1 C>G	8	41530482	41530482	C	G	ANK1	c.4661-52G>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41530482C>G	(Likely) benign	1 lab	42f9096f96
15:25602024 UBE3A T>C	15	25602024	25602024	T	C	UBE3A	c.1713A>G	NM_130838.1	NP_570853.1:p.(Glu571=)	NC_000015.9:g.25602024T>C	(Likely) benign	1 lab	42fba03b64
X:31582547 DMD T>C	X	31582547	31582547	T	C	DMD	c.8218-56977A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31582547T>C	VUS	1 lab	ce210b977f
14:65254006 SPTB GA>G	14	65254006	65254017	GA	G	SPTB	c.2805-129del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65254017del	(Likely) benign	1 lab	42fce79449
11:62397721 GANAB T>G	11	62397721	62397721	T	G	GANAB	c.1607A>C	NM_198335.4	NP_938149.2:p.(Asn536Thr)	NC_000011.9:g.62397721T>G	VUS	1 lab	42ff3e9052
11:47364218 MYBPC3 A>T	11	47364218	47364218	A	T	MYBPC3	c.1535T>A	NM_000256.3	NP_000247.2:p.(Leu512Gln)	NC_000011.9:g.47364218A>T	VUS	1 lab	42ff832a32
6:7580300 DSP A>G	6	7580300	7580300	A	G	DSP	c.3877A>G	NM_004415.2	NP_004406.2:p.(Ile1293Val)	NC_000006.11:g.7580300A>G	(Likely) benign	1 lab	42ffca1b0f
22:36715672 MYH9 G>A	22	36715672	36715672	G	A	MYH9	c.1021C>T	NM_002473.5	NP_002464.1:p.(Arg341Trp)	NC_000022.10:g.36715672G>A	(Likely) benign	1 lab	43042f163c
19:10886473 DNM2 C>T	19	10886473	10886473	C	T	DNM2	c.480C>T	NM_001005360.2	NP_001005360.1:p.(Ile160=)	NC_000019.9:g.10886473C>T	(Likely) benign	1 lab	430590b04e
2:227953367 COL4A4 A>C	2	227953367	227953367	A	C	COL4A4	c.1623+2T>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227953367A>C	(Likely) pathogenic	1 lab	430798bf50
21:47404043 COL6A1 G>C	21	47404043	47404043	G	C	COL6A1	c.228-140G>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47404043G>C	(Likely) benign	1 lab	430c0f41c0
19:50831761 KCNC3 G>A	19	50831761	50831761	G	A	KCNC3	c.579C>T	NM_004977.3	NP_004968.2:p.(Arg193=)	NC_000019.9:g.50831761G>A	VUS	1 lab	430cebc0ec
17:78166326 CARD14 G>A	17	78166326	78166326	G	A	CARD14	c.1264G>A	NM_024110.4	NP_077015.2:p.(Glu422Lys)	NC_000017.10:g.78166326G>A	(Likely) benign	1 lab	430d187b22
8:100287517 VPS13B CT>C	8	100287517	100287535	CT	C	VPS13B	c.2824+53del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100287535del	(Likely) benign	1 lab	43115c9d83
9:95484981 BICD2 T>G	9	95484981	95484981	T	G	BICD2	c.563A>C	NM_001003800.2	NP_001003800.1:p.(Asn188Thr)	NC_000009.11:g.95484981T>G	(Likely) pathogenic	1 lab	43119090e3
16:2143609 PKD1 C>T	16	2143609	2143609	C	T	PKD1	c.10952G>A	NM_001009944.2	NP_001009944.2:p.(Gly3651Asp)	NC_000016.9:g.2143609C>T	(Likely) pathogenic	1 lab	4313338911
12:6442583 TNFRSF1A A>G	12	6442583	6442583	A	G	TNFRSF1A	c.422T>C	NM_001065.3	NP_001056.1:p.(Phe141Ser)	NC_000012.11:g.6442583A>G	(Likely) pathogenic	1 lab	4314a4ba10
22:41282488 XPNPEP3 G>T	22	41282488	41282488	G	T	XPNPEP3	c.761G>T	NM_022098.4	NP_071381.1:p.(Arg254Leu)	NC_000022.10:g.41282488G>T	(Likely) benign	1 lab	43216d367a
14:23889113 MYH7 C>G	14	23889113	23889113	C	G	MYH7	c.3667G>C	NM_000257.2	NP_000248.2:p.(Glu1223Gln)	NC_000014.8:g.23889113C>G	VUS	1 lab	4326025071
1:155733153 GON4L A>G	1	155733153	155733153	A	G	GON4L	c.4676T>C	NM_001282860.2	NP_001269789.1:p.(Phe1559Ser)	NC_000001.10:g.155733153A>G	VUS	1 lab	4328b0e993
X:128696349 OCRL C>T	X	128696349	128696349	C	T	OCRL	c.940-12C>T	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128696349C>T	(Likely) benign	1 lab	43290d3dba
20:8703083 PLCB1 C>T	20	8703083	8703083	C	T	PLCB1	c.1581+15C>T	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8703083C>T	(Likely) benign	1 lab	432dfa8cb1
X:154221341 F8 C>A	X	154221341	154221341	C	A	F8	c.471G>T	NM_000132.3	NP_000123.1:p.(Trp157Cys)	NC_000023.10:g.154221341C>A	VUS	1 lab	432e470ae2
7:3083283 CARD11 C>T	7	3083283	3083283	C	T	CARD11	c.-187+18G>A	NM_001324281.2	NP_001311210.1:p.?	NC_000007.13:g.3083283C>T	(Likely) benign	1 lab	432edbea5a
17:4837131 GP1BA C>T	17	4837131	4837131	C	T	GP1BA	c.1232C>T	NM_000173.7	NP_000164.5:p.(Pro411Leu)	NC_000017.10:g.4837131C>T	(Likely) benign	1 lab	432f402cbc
8:48715855 PRKDC C>T	8	48715855	48715855	C	T	PRKDC	c.9922+12G>A	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48715855C>T	(Likely) benign	1 lab	433488be32
9:127262832 NR5A1 G>A	9	127262832	127262832	G	A	NR5A1	c.407C>T	NM_004959.5	NP_004950.2:p.(Pro136Leu)	NC_000009.11:g.127262832G>A	VUS	1 lab	433d2c6db0
16:50750599 NOD2 G>A	16	50750599	50750599	G	A	NOD2	c.2546+18G>A	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50750599G>A	(Likely) benign	1 lab	433e4a719f
2:166870221 SCN1A A>C	2	166870221	166870221	A	C	SCN1A	c.3705+33T>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166870221A>C	(Likely) benign	1 lab	433ed93ff6
6:39856489 DAAM2 A>G	6	39856489	39856489	A	G	DAAM2	c.2095A>G	NM_001201427.2	NP_001188356.1:p.(Ile699Val)	NC_000006.11:g.39856489A>G	(Likely) benign	1 lab	433fc041e2
2:179481222 TTN C>T	2	179481222	179481222	C	T	TTN	c.48296G>A	NM_001267550.1	NP_001254479.1:p.(Arg16099Gln)	NC_000002.11:g.179481222C>T	VUS	1 lab	4342234841
11:2416754 CD81 C>T	11	2416754	2416754	C	T	CD81	c.459+4C>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2416754C>T	(Likely) benign	1 lab	434a0af6f2
22:32173961 DEPDC5 T>C	22	32173961	32173961	T	C	DEPDC5	c.414-124T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32173961T>C	(Likely) benign	1 lab	434c657fdc
17:45822207 TBX21 C>T	17	45822207	45822207	C	T	TBX21	c.1083C>T	NM_013351.2	NP_037483.1:p.(Asn361=)	NC_000017.10:g.45822207C>T	(Likely) benign	1 lab	4357831c06
16:88783418 PIEZO1 C>A	16	88783418	88783418	C	A	PIEZO1	c.6660+13G>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88783418C>A	(Likely) benign	1 lab	435b688e49
19:10250852 DNMT1 G>A	19	10250852	10250852	G	A	DNMT1	c.3676C>T	NM_001130823.1	NP_001124295.1:p.(Arg1226Trp)	NC_000019.9:g.10250852G>A	VUS	1 lab	435d6223da
17:33884006 SLFN14 C>T	17	33884006	33884006	C	T	SLFN14	c.1060+16G>A	NM_001129820.2	NP_001123292.1:p.?	NC_000017.10:g.33884006C>T	(Likely) benign	1 lab	435daeda7c
17:41197774 BRCA1 A>C	17	41197774	41197774	A	C	BRCA1	c.5576T>G	NM_007300.4	NP_009231.2:p.(Val1859Gly)	NC_000017.10:g.41197774A>C	(Likely) pathogenic	1 lab	4361ba9320
X:73964056 NEXMIF C>T	X	73964056	73964056	C	T	NEXMIF	c.336G>A	NM_001008537.3	NP_001008537.1:p.(Trp112Ter)	NC_000023.10:g.73964056C>T	(Likely) pathogenic	1 lab	43631df265
X:107846266 COL4A5 G>A	X	107846266	107846266	G	A	COL4A5	c.2219G>A	NM_000495.5	NP_000486.1:p.(Gly740Glu)	NC_000023.10:g.107846266G>A	(Likely) pathogenic	1 lab	436ad1079f
X:154197692 F8 G>A	X	154197692	154197692	G	A	F8	c.923C>T	NM_000132.3	NP_000123.1:p.(Ser308Leu)	NC_000023.10:g.154197692G>A	(Likely) pathogenic	1 lab	436d45c302
9:125143973 PTGS1 C>A	9	125143973	125143973	C	A	PTGS1	c.709C>A	NM_000962.4	NP_000953.2:p.(Leu237Met)	NC_000009.11:g.125143973C>A	(Likely) benign	1 lab	436e45b7b5
7:79833155 GNAI1 A>G	7	79833155	79833155	A	G	GNAI1	c.590+7A>G	NM_002069.6	NP_002060.4:p.?	NC_000007.13:g.79833155A>G	(Likely) benign	1 lab	436f1058fb
12:51054095 DIP2B ACCT>A	12	51054095	51054101	ACCT	A	DIP2B	c.424_426del	NM_173602.3	NP_775873.2:p.(Pro142del)	NC_000012.11:g.51054099_51054101del	(Likely) benign	1 lab	ce2c7357be
17:3801862 P2RX1 G>A	17	3801862	3801862	G	A	P2RX1	c.967-19C>T	NM_002558.4	NP_002549.1:p.?	NC_000017.10:g.3801862G>A	(Likely) benign	1 lab	4374663379
1:160325667 NCSTN G>C	1	160325667	160325667	G	C	NCSTN	c.1470G>C	NM_015331.3	NP_056146.1:p.(Val490=)	NC_000001.10:g.160325667G>C	(Likely) benign	1 lab	4374b42f55
20:49508139 ADNP C>CTGAA	20	49508139	49508141	C	CTGAA	ADNP	c.3111_3112insTTCA	NM_015339.5	NP_056154.1:p.(Gly1038PhefsTer6)	NC_000020.10:g.49508140_49508141insGAAT	VUS	1 lab	ce30ea605d
16:2149944 PKD1 C>G	16	2149944	2149944	C	G	PKD1	c.9841G>C	NM_001009944.2	NP_001009944.2:p.(Ala3281Pro)	NC_000016.9:g.2149944C>G	VUS	1 lab	4381daf899
3:183899577 AP2M1 G>A	3	183899577	183899577	G	A	AP2M1	c.801G>A	NM_004068.4	NP_004059.2:p.(Pro267=)	NC_000003.11:g.183899577G>A	(Likely) benign	1 lab	43850fe0a5
14:74428247 COQ6 C>T	14	74428247	74428247	C	T	COQ6	c.1184C>T	NM_182476.3	NP_872282.1:p.(Thr395Met)	NC_000014.8:g.74428247C>T	(Likely) benign	1 lab	43855467ee
2:202496922 TMEM237 C>T	2	202496922	202496922	C	T	TMEM237	c.405G>A	NM_001044385.3	NP_001037850.1:p.(Gln135=)	NC_000002.11:g.202496922C>T	(Likely) benign	1 lab	43872a3a63
1:179520599 NPHS2 T>C	1	179520599	179520599	T	C	NPHS2	c.874-13A>G	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179520599T>C	(Likely) benign	1 lab	438f7129de
13:39266471 FREM2 G>A	13	39266471	39266471	G	A	FREM2	c.4990G>A	NM_207361.6	NP_997244.4:p.(Ala1664Thr)	NC_000013.10:g.39266471G>A	(Likely) benign	1 lab	4391655c46
7:91726481 AKAP9 A>G	7	91726481	91726481	A	G	AKAP9	c.10208A>G	NM_005751.4	NP_005742.4:p.(Lys3403Arg)	NC_000007.13:g.91726481A>G	(Likely) benign	1 lab	439284c195
16:2167870 PKD1 G>T	16	2167870	2167870	G	T	PKD1	c.1123C>A	NM_001009944.2	NP_001009944.2:p.(Leu375Ile)	NC_000016.9:g.2167870G>T	(Likely) benign	1 lab	43957c3788
4:77116889 SCARB2 C>G	4	77116889	77116889	C	G	SCARB2	c.246G>C	NM_005506.4	NP_005497.1:p.(Arg82=)	NC_000004.11:g.77116889C>G	(Likely) benign	1 lab	4396820720
12:7046325 ATN1 C>T	12	7046325	7046325	C	T	ATN1	c.1895C>T	NM_001007026.2	NP_001007027.1:p.(Ser632Phe)	NC_000012.11:g.7046325C>T	VUS	1 lab	ce33ce2fd9
17:27062401 NEK8 C>T	17	27062401	27062401	C	T	NEK8	c.618+12C>T	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27062401C>T	(Likely) benign	1 lab	439e0d72e6
1:185269425 IVNS1ABP A>G	1	185269425	185269425	A	G	IVNS1ABP	c.1293T>C	NM_006469.5	NP_006460.2:p.(Ser431=)	NC_000001.10:g.185269425A>G	(Likely) benign	1 lab	439ec6c867
15:93488854 CHD2 C>T	15	93488854	93488854	C	T	CHD2	c.1154-197C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93488854C>T	(Likely) benign	1 lab	43a0c669de
8:30585294 GSR G>A	8	30585294	30585294	G	A	GSR	c.59C>T	NM_000637.5	NP_000628.2:p.(Ala20Val)	NC_000008.10:g.30585294G>A	(Likely) benign	1 lab	43a27057ef
1:158612756 SPTA1 G>A	1	158612756	158612756	G	A	SPTA1	c.4453C>T	NM_003126.3	NP_003117.2:p.(Leu1485Phe)	NC_000001.10:g.158612756G>A	(Likely) benign	1 lab	43a7ac55d5
14:65249283 SPTB A>G	14	65249283	65249283	A	G	SPTB	c.4003-12T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65249283A>G	(Likely) benign	1 lab	43a8bb78b2
7:87053256 ABCB4 G>A	7	87053256	87053256	G	A	ABCB4	c.2177C>T	NM_018849.3	NP_061337.1:p.(Pro726Leu)	NC_000007.13:g.87053256G>A	(Likely) pathogenic	1 lab	43a8e69972
16:2140532 PKD1 G>A	16	2140532	2140532	G	A	PKD1	c.12198C>T	NM_001009944.2	NP_001009944.2:p.(Cys4066=)	NC_000016.9:g.2140532G>A	(Likely) benign	1 lab	43aad7f319
9:138678249 KCNT1 G>A	9	138678249	138678249	G	A	KCNT1	c.3384G>A	NM_020822.2	NP_065873.2:p.(Ala1128=)	NC_000009.11:g.138678249G>A	(Likely) benign	1 lab	43acf5f61d
5:161322726 GABRA1 T>C	5	161322726	161322726	T	C	GABRA1	c.911T>C	NM_000806.5	NP_000797.2:p.(Leu304Pro)	NC_000005.9:g.161322726T>C	(Likely) pathogenic	1 lab	43adbe8a28
5:79032632 CMYA5 T>C	5	79032632	79032632	T	C	CMYA5	c.8044T>C	NM_153610.5	NP_705838.3:p.(Ser2682Pro)	NC_000005.9:g.79032632T>C	(Likely) benign	1 lab	43ae2a5dfa
X:79946676 BRWD3 C>G	X	79946676	79946676	C	G	BRWD3	c.3482-4G>C	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79946676C>G	(Likely) benign	1 lab	43afaf0888
6:56481060 DST T>C	6	56481060	56481060	T	C	DST	c.7205A>G	NM_001723.6	NP_001714.1:p.(Asn2402Ser)	NC_000006.11:g.56481060T>C	(Likely) benign	1 lab	43b13c256f
X:135313837 MAP7D3 T>C	X	135313837	135313837	T	C	MAP7D3	c.1279A>G	NM_024597.4	NP_078873.2:p.(Lys427Glu)	NC_000023.10:g.135313837T>C	(Likely) benign	1 lab	43b1505c8a
11:71711410 IL18BP G>A	11	71711410	71711410	G	A	IL18BP	c.42G>A	NM_005699.3	NP_005690.2:p.(Leu14=)	NC_000011.9:g.71711410G>A	(Likely) benign	1 lab	43b32b0088
1:120460311 NOTCH2 T>C	1	120460311	120460311	T	C	NOTCH2	c.6004A>G	NM_024408.4	NP_077719.2:p.(Asn2002Asp)	NC_000001.10:g.120460311T>C	VUS	1 lab	43b398f95d
12:110012706 MVK GT>G	12	110012706	110012707	GT	G	MVK	c.78+2del	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110012707del	(Likely) pathogenic	1 lab	43b72a979c
12:52200880 SCN8A A>T	12	52200880	52200880	A	T	SCN8A	c.5610A>T	NM_014191.4	NP_055006.1:p.(Glu1870Asp)	NC_000012.11:g.52200880A>T	(Likely) pathogenic	1 lab	43b900170c
1:229641911 NUP133 G>GA	1	229641911	229641915	G	GA	NUP133	c.183-7dup	NM_018230.3	NP_060700.2:p.?	NC_000001.10:g.229641915dup	(Likely) benign	1 lab	43b91896fc
9:137733982 COL5A1 A>G	9	137733982	137733982	A	G	COL5A1	c.5371-21A>G	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137733982A>G	(Likely) benign	1 lab	43bd6e515d
13:39263646 FREM2 G>A	13	39263646	39263646	G	A	FREM2	c.2165G>A	NM_207361.6	NP_997244.4:p.(Arg722Lys)	NC_000013.10:g.39263646G>A	(Likely) benign	1 lab	43bef75588
9:130616644 ENG G>A	9	130616644	130616644	G	A	ENG	c.-10C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130616644G>A	(Likely) pathogenic	1 lab	43c91aa064
17:39023396 KRT12 G>A	17	39023396	39023396	G	A	KRT12	c.43C>T	NM_000223.4	NP_000214.1:p.(Pro15Ser)	NC_000017.10:g.39023396G>A	(Likely) benign	1 lab	ce353dfe21
1:158623081 SPTA1 C>T	1	158623081	158623081	C	T	SPTA1	c.3171G>A	NM_003126.3	NP_003117.2:p.(Gln1057=)	NC_000001.10:g.158623081C>T	(Likely) benign	1 lab	43d0e472a7
12:98927718 TMPO C>G	12	98927718	98927718	C	G	TMPO	c.1683C>G	NM_003276.2	NP_003267.1:p.(Cys561Trp)	NC_000012.11:g.98927718C>G	(Likely) benign	1 lab	43d793ed8f
2:216240345 FN1 T>C	2	216240345	216240345	T	C	FN1	c.5977+7A>G	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216240345T>C	(Likely) benign	1 lab	43d8b45e53
X:39914767 BCOR C>T	X	39914767	39914767	C	T	BCOR	c.4494-1G>A	NM_017745.6	NP_060215.4:p.?	NC_000023.10:g.39914767C>T	(Likely) pathogenic	1 lab	43db5fe32b
20:30408119 MYLK2 CAG>C	20	30408119	30408121	CAG	C	MYLK2	c.244_245del	NM_033118.4	NP_149109.1:p.(Arg82GlyfsTer23)	NC_000020.10:g.30408120_30408121del	VUS	1 lab	43db90ee9f
20:62316866 RTEL1 TG>T	20	62316866	62316867	TG	T	RTEL1	c.1192-9del	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62316867del	(Likely) benign	1 lab	43dcb98474
22:44495983 PARVB A>G	22	44495983	44495983	A	G	PARVB	c.352A>G	NM_001003828.2	NP_001003828.1:p.(Lys118Glu)	NC_000022.10:g.44495983A>G	(Likely) benign	1 lab	43e2e9818e
13:52542588 ATP7B C>A	13	52542588	52542588	C	A	ATP7B	c.1699G>T	NM_000053.4	NP_000044.2:p.(Glu567Ter)	NC_000013.10:g.52542588C>A	VUS	1 lab	43e4d21259
18:3188949 MYOM1 T>A	18	3188949	3188949	T	A	MYOM1	c.568A>T	NM_003803.3	NP_003794.3:p.(Thr190Ser)	NC_000018.9:g.3188949T>A	VUS	1 lab	43e8fbcac0
X:24844614 POLA1 C>A	X	24844614	24844614	C	A	POLA1	c.3632C>A	NM_001330360.2	NP_001317289.1:p.(Thr1211Asn)	NC_000023.10:g.24844614C>A	(Likely) benign	1 lab	43e9ca4d28
14:64518529 SYNE2 A>G	14	64518529	64518529	A	G	SYNE2	c.7898A>G	NM_182914.2	NP_878918.2:p.(Asn2633Ser)	NC_000014.8:g.64518529A>G	(Likely) benign	1 lab	43e9f3c881
7:156799259 MNX1 G>C	7	156799259	156799259	G	C	MNX1	c.766C>G	NM_005515.4	NP_005506.3:p.(Leu256Val)	NC_000007.13:g.156799259G>C	VUS	1 lab	43e9fa17af
4:79460647 FRAS1 GAA>G	4	79460647	79460663	GAA	G	FRAS1	c.11445+68_11445+69del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79460662_79460663del	(Likely) benign	1 lab	43ee3ab0b6
11:66278177 BBS1 G>C	11	66278177	66278177	G	C	BBS1	c.47G>C	NM_024649.5	NP_078925.3:p.(Ser16Thr)	NC_000011.9:g.66278177G>C	(Likely) pathogenic	1 lab	43ef686a0f
1:154543782 CHRNB2 C>T	1	154543782	154543782	C	T	CHRNB2	c.483C>T	NM_000748.3	NP_000739.1:p.(His161=)	NC_000001.10:g.154543782C>T	(Likely) benign	1 lab	43f56d47ce
2:152729182 CACNB4 A>C	2	152729182	152729182	A	C	CACNB4	c.420-175T>G	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152729182A>C	(Likely) benign	1 lab	43fcdbb6b9
17:39923638 JUP T>C	17	39923638	39923638	T	C	JUP	c.902A>G	NM_002230.2	NP_002221.1:p.(Glu301Gly)	NC_000017.10:g.39923638T>C	VUS	1 lab	43ff4121ac
17:42148520 G6PC3 A>G	17	42148520	42148520	A	G	G6PC3	c.187A>G	NM_138387.3	NP_612396.1:p.(Ile63Val)	NC_000017.10:g.42148520A>G	(Likely) benign	1 lab	440580399d
12:6442601 TNFRSF1A T>C	12	6442601	6442601	T	C	TNFRSF1A	c.404A>G	NM_001065.3	NP_001056.1:p.(Tyr135Cys)	NC_000012.11:g.6442601T>C	VUS	1 lab	4406591957
8:102649168 GRHL2 A>G	8	102649168	102649168	A	G	GRHL2	c.1469+12A>G	NM_001330593.2	NP_001317522.1:p.?	NC_000008.10:g.102649168A>G	(Likely) benign	1 lab	440668a634
1:160265635 COPA G>T	1	160265635	160265635	G	T	COPA	c.2367C>A	NM_004371.4	NP_004362.2:p.(Asp789Glu)	NC_000001.10:g.160265635G>T	(Likely) benign	1 lab	440a7330b7
14:23898268 MYH7 T>C	14	23898268	23898268	T	C	MYH7	c.1303A>G	NM_000257.2	NP_000248.2:p.(Met435Val)	NC_000014.8:g.23898268T>C	(Likely) pathogenic	1 lab	440f8a09c8
1:11106617 MASP2 G>A	1	11106617	11106617	G	A	MASP2	c.408C>T	NM_006610.4	NP_006601.2:p.(Ala136=)	NC_000001.10:g.11106617G>A	(Likely) benign	1 lab	4410475d65
1:237796915 RYR2 G>A	1	237796915	237796915	G	A	RYR2	c.6593G>A	NM_001035.3	NP_001026.2:p.(Arg2198His)	NC_000001.10:g.237796915G>A	VUS	1 lab	ce3dbf4376
1:15438825 KAZN ATGTGTGTGTGTGTG>A	1	15438825	15438870	ATGTGTGTGTGTGTG	A	KAZN	c.2049-66_2049-53del	NM_201628.3	NP_963922.2:p.?	NC_000001.10:g.15438857_15438870del	(Likely) benign	1 lab	4414018547
15:45361180 SORD A>T	15	45361180	45361180	A	T	SORD	c.716A>T	NM_003104.6	NP_003095.2:p.(Gln239Leu)	NC_000015.9:g.45361180A>T	(Likely) benign	1 lab	44183c7ad8
7:117149075 CFTR T>TA	7	117149075	117149076	T	TA	CFTR	c.165-12dup	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117149076dup	(Likely) benign	1 lab	441bd3a1e3
12:52309224 ACVRL1 G>A	12	52309224	52309224	G	A	ACVRL1	c.988G>A	NM_000020.2	NP_000011.2:p.(Asp330Asn)	NC_000012.11:g.52309224G>A	(Likely) pathogenic	1 lab	441ee98ff2
8:48848992 PRKDC G>C	8	48848992	48848992	G	C	PRKDC	c.1199C>G	NM_006904.6	NP_008835.5:p.(Thr400Arg)	NC_000008.10:g.48848992G>C	(Likely) benign	1 lab	441f70b890
16:67683941 CARMIL2 C>A	16	67683941	67683941	C	A	CARMIL2	c.2083-11C>A	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67683941C>A	(Likely) benign	1 lab	44236a0b97
20:30674560 HCK C>A	20	30674560	30674560	C	A	HCK	c.905C>A	NM_001172132.2	NP_001165603.1:p.(Ala302Glu)	NC_000020.10:g.30674560C>A	VUS	1 lab	442761b38e
20:35545237 SAMHD1 G>C	20	35545237	35545237	G	C	SAMHD1	c.954-4C>G	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35545237G>C	(Likely) benign	1 lab	4428db8c55
20:8717713 PLCB1 G>A	20	8717713	8717713	G	A	PLCB1	c.2082G>A	NM_182734.3	NP_877398.1:p.(Gly694=)	NC_000020.10:g.8717713G>A	(Likely) benign	1 lab	4428e4fe8a
20:10393341 MKKS G>A	20	10393341	10393341	G	A	MKKS	c.822C>T	NM_018848.3	NP_061336.1:p.(Asp274=)	NC_000020.10:g.10393341G>A	(Likely) benign	1 lab	442dc9ea63
8:41552765 ANK1 G>A	8	41552765	41552765	G	A	ANK1	c.3045C>T	NM_000037.4	NP_000028.3:p.(Ser1015=)	NC_000008.10:g.41552765G>A	(Likely) benign	1 lab	4432af491b
19:55452383 NLRP7 A>G	19	55452383	55452383	A	G	NLRP7	c.278-10T>C	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55452383A>G	(Likely) benign	1 lab	443e1ecaa2
1:200587680 KIF14 C>G	1	200587680	200587680	C	G	KIF14	c.172G>C	NM_014875.3	NP_055690.1:p.(Gly58Arg)	NC_000001.10:g.200587680C>G	(Likely) benign	1 lab	443f0a96ad
8:68658127 CPA6 C>T	8	68658127	68658127	C	T	CPA6	c.116+122G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658127C>T	(Likely) benign	1 lab	4443a6e8ac
4:40245501 RHOH C>T	4	40245501	40245501	C	T	RHOH	c.495C>T	NM_004310.5	NP_004301.1:p.(Cys165=)	NC_000004.11:g.40245501C>T	(Likely) benign	1 lab	44478367e0
1:229584911 NUP133 T>C	1	229584911	229584911	T	C	NUP133	c.3207A>G	NM_018230.3	NP_060700.2:p.(Leu1069=)	NC_000001.10:g.229584911T>C	(Likely) benign	1 lab	4449b84652
17:73838662 UNC13D C>A	17	73838662	73838662	C	A	UNC13D	c.421G>T	NM_199242.2	NP_954712.1:p.(Glu141Ter)	NC_000017.10:g.73838662C>A	VUS	1 lab	444a00ec9c
1:119584950 WARS2 T>C	1	119584950	119584950	T	C	WARS2	c.452A>G	NM_015836.4	NP_056651.1:p.(His151Arg)	NC_000001.10:g.119584950T>C	(Likely) benign	1 lab	ce435f9be4
1:1957025 GABRD C>T	1	1957025	1957025	C	T	GABRD	c.318C>T	NM_000815.5	NP_000806.2:p.(Asn106=)	NC_000001.10:g.1957025C>T	(Likely) benign	1 lab	445205828e
3:186300497 DNAJB11 C>G	3	186300497	186300497	C	G	DNAJB11	c.683-8C>G	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186300497C>G	(Likely) benign	1 lab	44577f1dbe
17:4836289 GP1BA G>A	17	4836289	4836289	G	A	GP1BA	c.390G>A	NM_000173.7	NP_000164.5:p.(Ser130=)	NC_000017.10:g.4836289G>A	(Likely) benign	1 lab	4457f983a5
12:66933149 GRIP1 C>T	12	66933149	66933149	C	T	GRIP1	c.273-146G>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66933149C>T	(Likely) benign	1 lab	445a2baaf5
7:82997081 SEMA3E T>C	7	82997081	82997081	T	C	SEMA3E	c.2149A>G	NM_012431.3	NP_036563.1:p.(Ile717Val)	NC_000007.13:g.82997081T>C	(Likely) benign	1 lab	4465ad9aaf
7:77755162 MAGI2 G>T	7	77755162	77755162	G	T	MAGI2	c.3424-8C>A	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77755162G>T	(Likely) benign	1 lab	4465df3033
20:36030945 SRC T>C	20	36030945	36030945	T	C	SRC	c.1224T>C	NM_005417.4	NP_005408.1:p.(Phe408=)	NC_000020.10:g.36030945T>C	(Likely) benign	1 lab	4465fe6bfb
4:39511530 UGDH TA>T	4	39511530	39511542	TA	T	UGDH	c.664-4del	NM_003359.4	NP_003350.1:p.?	NC_000004.11:g.39511542del	(Likely) benign	1 lab	4466021b1c
3:38524814 ACVR2B A>G	3	38524814	38524814	A	G	ACVR2B	c.1530A>G	NM_001106.4	NP_001097.2:p.(Ser510=)	NC_000003.11:g.38524814A>G	(Likely) benign	1 lab	44671342ef
6:7582964 DSP G>C	6	7582964	7582964	G	C	DSP	c.5469G>C	NM_004415.2	NP_004406.2:p.(Glu1823Asp)	NC_000006.11:g.7582964G>C	VUS	1 lab	446a6eeb6f
17:73832000 UNC13D C>T	17	73832000	73832000	C	T	UNC13D	c.1545-13G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73832000C>T	(Likely) benign	1 lab	446e187c84
6:39847153 DAAM2 C>A	6	39847153	39847153	C	A	DAAM2	c.1745C>A	NM_001201427.2	NP_001188356.1:p.(Pro582His)	NC_000006.11:g.39847153C>A	(Likely) benign	1 lab	446fb7cebe
16:3304265 MEFV G>A	16	3304265	3304265	G	A	MEFV	c.803C>T	NM_000243.2	NP_000234.1:p.(Ala268Val)	NC_000016.9:g.3304265G>A	VUS	1 lab	4471045caf
18:19418445 MIB1 T>C	18	19418445	19418445	T	C	MIB1	c.1949T>C	NM_020774.3	NP_065825.1:p.(Leu650Pro)	NC_000018.9:g.19418445T>C	VUS	1 lab	44da06e43e
17:61558565 ACE A>G	17	61558565	61558565	A	G	ACE	c.945+16A>G	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61558565A>G	(Likely) benign	1 lab	4474c47b87
9:14842532 FREM1 C>T	9	14842532	14842532	C	T	FREM1	c.1520G>A	NM_144966.5	NP_659403.4:p.(Arg507His)	NC_000009.11:g.14842532C>T	(Likely) benign	1 lab	4484313a32
3:49161515 LAMB2 C>T	3	49161515	49161515	C	T	LAMB2	c.3443G>A	NM_002292.4	NP_002283.3:p.(Arg1148His)	NC_000003.11:g.49161515C>T	(Likely) benign	1 lab	4484519932
19:10886548 DNM2 C>T	19	10886548	10886548	C	T	DNM2	c.555C>T	NM_001005360.2	NP_001005360.1:p.(Asp185=)	NC_000019.9:g.10886548C>T	(Likely) benign	1 lab	448a0b3b20
1:100346329 AGL A>G	1	100346329	100346329	A	G	AGL	c.1877A>G	NM_000642.3	NP_000633.2:p.(His626Arg)	NC_000001.10:g.100346329A>G	(Likely) pathogenic	1 lab	448c4ecbbc
2:241818229 AGXT G>A	2	241818229	241818229	G	A	AGXT	c.1170G>A	NM_000030.3	NP_000021.1:p.(Lys390=)	NC_000002.11:g.241818229G>A	(Likely) benign	1 lab	448e871517
22:32151142 DEPDC5 A>G	22	32151142	32151142	A	G	DEPDC5	c.58+177A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32151142A>G	(Likely) benign	1 lab	4492a1c96d
2:189864558 COL3A1 T>C	2	189864558	189864558	T	C	COL3A1	c.2230-10T>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189864558T>C	(Likely) benign	1 lab	4498b53642
X:99924401 SRPX2 G>C	X	99924401	99924401	G	C	SRPX2	c.1217+35G>C	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99924401G>C	(Likely) benign	1 lab	4498ee7041
16:1265152 CACNA1H C>T	16	1265152	1265152	C	T	CACNA1H	c.5039+71C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1265152C>T	(Likely) benign	1 lab	44a1e7f415
9:6255967 IL33 G>C	9	6255967	6255967	G	C	IL33	c.613-1G>C	NM_033439.4	NP_254274.1:p.?	NC_000009.11:g.6255967G>C	VUS	1 lab	44a56fea17
1:207644329 CR2 T>A	1	207644329	207644329	T	A	CR2	c.1403-13T>A	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207644329T>A	(Likely) benign	1 lab	44a5b06a6d
9:5081705 JAK2 A>G	9	5081705	5081705	A	G	JAK2	c.2435-20A>G	NM_004972.3	NP_004963.1:p.?	NC_000009.11:g.5081705A>G	(Likely) benign	1 lab	44aabe202f
17:78180894 CARD14 C>T	17	78180894	78180894	C	T	CARD14	c.2807+10C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78180894C>T	(Likely) benign	1 lab	44ac2b1d1a
10:50873022 CHAT C>T	10	50873022	50873022	C	T	CHAT	c.1931C>T	NM_001142933.1	NP_001136405.1:p.(Pro644Leu)	NC_000010.10:g.50873022C>T	(Likely) benign	1 lab	44b11d2f43
22:36697720 MYH9 G>A	22	36697720	36697720	G	A	MYH9	c.2500-9C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36697720G>A	(Likely) benign	1 lab	44b25b8a9a
17:42334907 SLC4A1 G>A	17	42334907	42334907	G	A	SLC4A1	c.1437C>T	NM_000342.4	NP_000333.1:p.(Cys479=)	NC_000017.10:g.42334907G>A	(Likely) benign	1 lab	44b310c119
18:48466215 ME2 G>A	18	48466215	48466215	G	A	ME2	c.1488+205G>A	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48466215G>A	(Likely) benign	1 lab	44b5fd6bfd
14:77915622 VIPAS39 A>G	14	77915622	77915622	A	G	VIPAS39	c.447+14T>C	NM_022067.4	NP_071350.2:p.?	NC_000014.8:g.77915622A>G	(Likely) benign	1 lab	44b7cab88b
12:103238134 PAH A>G	12	103238134	103238134	A	G	PAH	c.1045T>C	NM_000277.3	NP_000268.1:p.(Ser349Pro)	NC_000012.11:g.103238134A>G	(Likely) pathogenic	1 lab	44badf797e
2:179604855 TTN C>T	2	179604855	179604855	C	T	TTN	c.13105G>A	NM_001267550.1	NP_001254479.1:p.(Val4369Met)	NC_000002.11:g.179604855C>T	VUS	1 lab	44bcc0d29b
14:24629060 RNF31 C>T	14	24629060	24629060	C	T	RNF31	c.2900-13C>T	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24629060C>T	(Likely) benign	1 lab	44bd768a32
16:2546072 TBC1D24 G>A	16	2546072	2546072	G	A	TBC1D24	c.-78G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2546072G>A	(Likely) benign	1 lab	44bef1b4de
2:204735295 CTLA4 C>T	2	204735295	204735295	C	T	CTLA4	c.110-14C>T	NM_005214.5	NP_005205.2:p.?	NC_000002.11:g.204735295C>T	(Likely) benign	1 lab	44e021be14
7:73474334 ELN T>TGGCGTTGGCGTGGCTCCC	7	73474334	73474355	T	TGGCGTTGGCGTGGCTCCC	ELN	c.1624_1641dup	NM_001278939.1	NP_001265868.1:p.(Val542_Gly547dup)	NC_000007.13:g.73474338_73474355dup	(Likely) benign	1 lab	44c6e030eb
10:12160875 DHTKD1 G>T	10	12160875	12160875	G	T	DHTKD1	c.2530G>T	NM_018706.7	NP_061176.4:p.(Asp844Tyr)	NC_000010.10:g.12160875G>T	VUS	1 lab	44c8faa39a
6:52303361 EFHC1 G>A	6	52303361	52303361	G	A	EFHC1	c.545G>A	NM_018100.4	NP_060570.2:p.(Arg182His)	NC_000006.11:g.52303361G>A	(Likely) benign	1 lab	44c94b7831
5:39341372 C9 G>A	5	39341372	39341372	G	A	C9	c.352C>T	NM_001737.3	NP_001728.1:p.(Arg118Trp)	NC_000005.9:g.39341372G>A	(Likely) benign	1 lab	44cd55ad3e
7:83016354 SEMA3E T>C	7	83016354	83016354	T	C	SEMA3E	c.1680A>G	NM_012431.3	NP_036563.1:p.(Arg560=)	NC_000007.13:g.83016354T>C	(Likely) benign	1 lab	44d3c35671
11:108172385 ATM C>T	11	108172385	108172385	C	T	ATM	c.5188C>T	NM_000051.3	NP_000042.3:p.(Arg1730Ter)	NC_000011.9:g.108172385C>T	(Likely) pathogenic	1 lab	44d74c05f3
12:94761681 CEP83 A>G	12	94761681	94761681	A	G	CEP83	c.1232T>C	NM_016122.3	NP_057206.2:p.(Met411Thr)	NC_000012.11:g.94761681A>G	(Likely) benign	1 lab	44d950db0e
16:67682670 CARMIL2 C>T	16	67682670	67682670	C	T	CARMIL2	c.1509+13C>T	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67682670C>T	(Likely) benign	1 lab	44d97ba540
10:96018567 PLCE1 A>G	10	96018567	96018567	A	G	PLCE1	c.3565A>G	NM_016341.3	NP_057425.3:p.(Ser1189Gly)	NC_000010.10:g.96018567A>G	(Likely) benign	1 lab	44db13e211
X:56591879 UBQLN2 C>T	X	56591879	56591879	C	T	UBQLN2	c.1573C>T	NM_013444.3	NP_038472.2:p.(Pro525Ser)	NC_000023.10:g.56591879C>T	(Likely) benign	1 lab	44db19fcfa
6:33655888 ITPR3 CAGG>C	6	33655888	33655901	CAGG	C	ITPR3	c.6330_6332del	NM_002224.4	NP_002215.2:p.(Glu2111del)	NC_000006.11:g.33655899_33655901del	(Likely) benign	1 lab	44e3e0b350
13:33635809 KL G>C	13	33635809	33635809	G	C	KL	c.2593G>C	NM_004795.4	NP_004786.2:p.(Asp865His)	NC_000013.10:g.33635809G>C	VUS	1 lab	ce4c410274
20:60897744 LAMA5 G>A	20	60897744	60897744	G	A	LAMA5	c.6135C>T	NM_005560.4	NP_005551.3:p.(Gly2045=)	NC_000020.10:g.60897744G>A	(Likely) benign	1 lab	44ef419c39
19:55549590 GP6 C>T	19	55549590	55549590	C	T	GP6	c.15G>A	NM_001083899.2	NP_001077368.2:p.(Pro5=)	NC_000019.9:g.55549590C>T	(Likely) benign	1 lab	44ef51a952
1:11087272 MASP2 T>G	1	11087272	11087272	T	G	MASP2	c.1731A>C	NM_006610.4	NP_006601.2:p.(Gln577His)	NC_000001.10:g.11087272T>G	(Likely) benign	1 lab	44f01a8452
11:64573122 MEN1 C>T	11	64573122	64573122	C	T	MEN1	c.1185G>A	NM_130803.2	NP_570715.1:p.(Pro395=)	NC_000011.9:g.64573122C>T	VUS	1 lab	44f45e24de
X:154132571 F8 C>T	X	154132571	154132571	C	T	F8	c.5815G>A	NM_000132.3	NP_000123.1:p.(Ala1939Thr)	NC_000023.10:g.154132571C>T	(Likely) pathogenic	1 lab	44fb5f0a9c
5:147474000 SPINK5 C>T	5	147474000	147474000	C	T	SPINK5	c.750C>T	NM_006846.3	NP_006837.2:p.(Asp250=)	NC_000005.9:g.147474000C>T	(Likely) benign	1 lab	44fba57ca9
4:114277898 ANK2 A>G	4	114277898	114277898	A	G	ANK2	c.8124A>G	NM_001148.4	NP_001139.3:p.(Val2708=)	NC_000004.11:g.114277898A>G	(Likely) benign	1 lab	44fc870e4b
X:153586805 FLNA C>T	X	153586805	153586805	C	T	FLNA	c.4598+8G>A	NM_001456.3	NP_001447.2:p.?	NC_000023.10:g.153586805C>T	(Likely) benign	1 lab	44fec7a3e3
21:44485763 CBS C>T	21	44485763	44485763	C	T	CBS	c.494G>A	NM_000071.2	NP_000062.1:p.(Cys165Tyr)	NC_000021.8:g.44485763C>T	(Likely) pathogenic	1 lab	4501e5d6f9
5:125887806 ALDH7A1 A>G	5	125887806	125887806	A	G	ALDH7A1	c.1224T>C	NM_001182.5	NP_001173.2:p.(Tyr408=)	NC_000005.9:g.125887806A>G	(Likely) benign	1 lab	45028e84ee
17:7813890 CHD3 C>T	17	7813890	7813890	C	T	CHD3	c.5912C>T	NM_001005271.3	NP_001005271.2:p.(Thr1971Met)	NC_000017.10:g.7813890C>T	(Likely) benign	1 lab	ce4d82ddd8
3:10184255 VHL G>A	3	10184255	10184255	G	A	VHL	c.340+384G>A	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10184255G>A	(Likely) benign	1 lab	452ac7f049
1:154544427 CHRNB2 C>T	1	154544427	154544427	C	T	CHRNB2	c.1128C>T	NM_000748.3	NP_000739.1:p.(Leu376=)	NC_000001.10:g.154544427C>T	(Likely) benign	1 lab	450ef35c11
11:47354896 MYBPC3 AG>A	11	47354896	47354897	AG	A	MYBPC3	c.3191-13del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354897del	VUS	1 lab	45851c1bc3
3:123452850 MYLK C>T	3	123452850	123452850	C	T	MYLK	c.993G>A	NM_053025.3	NP_444253.3:p.(Thr331=)	NC_000003.11:g.123452850C>T	(Likely) benign	1 lab	450f357acb
22:39629515 PDGFB C>A	22	39629515	39629515	C	A	PDGFB	c.175G>T	NM_002608.4	NP_002599.1:p.(Glu59Ter)	NC_000022.10:g.39629515C>A	(Likely) pathogenic	1 lab	4511536ae5
4:79434820 FRAS1 T>C	4	79434820	79434820	T	C	FRAS1	c.10174+114T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79434820T>C	(Likely) benign	1 lab	45181c246d
8:134271398 NDRG1 C>G	8	134271398	134271398	C	G	NDRG1	c.389+13G>C	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134271398C>G	(Likely) benign	1 lab	451a95aebd
16:1262098 CACNA1H AGAG>A	16	1262098	1262104	AGAG	A	CACNA1H	c.4723_4725del	NM_021098.3	NP_066921.2:p.(Glu1575del)	NC_000016.9:g.1262102_1262104del	VUS	1 lab	451ce6df3a
18:19418410 MIB1 G>C	18	19418410	19418410	G	C	MIB1	c.1914G>C	NM_020774.3	NP_065825.1:p.(Leu638=)	NC_000018.9:g.19418410G>C	(Likely) benign	1 lab	451ec89b57
2:179440545 TTN TG>T	2	179440545	179440548	TG	T	TTN	c.70313del	NM_001267550.2	NP_001254479.2:p.(Pro23438GlnfsTer23)	NC_000002.11:g.179440548del	(Likely) pathogenic	1 lab	45257cf2d9
16:2550423 TBC1D24 G>A	16	2550423	2550423	G	A	TBC1D24	c.1457G>A	NM_001199107.2	NP_001186036.1:p.(Arg486His)	NC_000016.9:g.2550423G>A	VUS	1 lab	ce4ebb9bc6
20:5294626 PROKR2 G>A	20	5294626	5294626	G	A	PROKR2	c.390C>T	NM_144773.3	NP_658986.1:p.(Ser130=)	NC_000020.10:g.5294626G>A	(Likely) benign	1 lab	45288a2601
22:51065610 ARSA G>A	22	51065610	51065610	G	A	ARSA	c.449C>T	NM_000487.6	NP_000478.3:p.(Pro150Leu)	NC_000022.10:g.51065610G>A	VUS	1 lab	49f677164b
2:152499126 NEB T>C	2	152499126	152499126	T	C	NEB	c.8335A>G	NM_001271208.1	NP_001258137.1:p.(Ile2779Val)	NC_000002.11:g.152499126T>C	(Likely) benign	1 lab	452c4d53db
19:11687630 ACP5 C>T	19	11687630	11687630	C	T	ACP5	c.290G>A	NM_001111035.3	NP_001104505.1:p.(Arg97His)	NC_000019.9:g.11687630C>T	(Likely) benign	1 lab	452c9aa62a
4:110902058 EGF G>A	4	110902058	110902058	G	A	EGF	c.2298G>A	NM_001963.6	NP_001954.2:p.(Ser766=)	NC_000004.11:g.110902058G>A	(Likely) benign	1 lab	452fa8ee59
19:40978627 SPTBN4 G>T	19	40978627	40978627	G	T	SPTBN4	c.99G>T	NM_020971.3	NP_066022.2:p.(Glu33Asp)	NC_000019.9:g.40978627G>T	(Likely) benign	1 lab	4538d5d68d
7:128494207 FLNC T>A	7	128494207	128494207	T	A	FLNC	c.6664T>A	NM_001458.4	NP_001449.3:p.(Phe2222Ile)	NC_000007.13:g.128494207T>A	VUS	1 lab	453ae5799a
1:240071828 CHRM3 C>G	1	240071828	240071828	C	G	CHRM3	c.1077C>G	NM_000740.3	NP_000731.1:p.(Ser359=)	NC_000001.10:g.240071828C>G	(Likely) benign	1 lab	453dbd4778
12:88449289 CEP290 T>C	12	88449289	88449289	T	C	CEP290	c.6960+64A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88449289T>C	(Likely) benign	1 lab	4c82009534
17:62007501 CD79B G>A	17	62007501	62007501	G	A	CD79B	c.363C>T	NM_000626.4	NP_000617.1:p.(Phe121=)	NC_000017.10:g.62007501G>A	(Likely) benign	1 lab	454945ffe4
X:152612801 ZNF275 G>A	X	152612801	152612801	G	A	ZNF275	c.658G>A	NM_001080485.3	NP_001073954.3:p.(Val220Ile)	NC_000023.10:g.152612801G>A	(Likely) benign	1 lab	45494a8cd5
12:7241975 C1R G>A	12	7241975	7241975	G	A	C1R	c.724C>T	NM_001354346.2	NP_001341275.1:p.(Arg242Trp)	NC_000012.11:g.7241975G>A	(Likely) benign	1 lab	454b1bda46
16:20352637 UMOD G>C	16	20352637	20352637	G	C	UMOD	c.1353C>G	NM_003361.3	NP_003352.2:p.(Gly451=)	NC_000016.9:g.20352637G>C	(Likely) benign	1 lab	454c25fc90
1:39753160 MACF1 G>T	1	39753160	39753160	G	T	MACF1	c.1726G>T	NM_012090.5	NP_036222.3:p.(Ala576Ser)	NC_000001.10:g.39753160G>T	VUS	1 lab	ce529c1d56
2:227963496 COL4A4 C>G	2	227963496	227963496	C	G	COL4A4	c.1118G>C	NM_000092.4	NP_000083.3:p.(Gly373Ala)	NC_000002.11:g.227963496C>G	(Likely) pathogenic	1 lab	455e19323d
11:4112725 STIM1 G>A	11	4112725	4112725	G	A	STIM1	c.2073G>A	NM_001277961.1	NP_001264890.1:p.(Ala691=)	NC_000011.9:g.4112725G>A	(Likely) benign	1 lab	4566f74c99
2:166170075 SCN2A C>A	2	166170075	166170075	C	A	SCN2A	c.1035-55C>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166170075C>A	(Likely) benign	1 lab	456e5e0eb2
11:68696631 IGHMBP2 C>T	11	68696631	68696631	C	T	IGHMBP2	c.1061-20C>T	NM_002180.2	NP_002171.2:p.?	NC_000011.9:g.68696631C>T	(Likely) benign	1 lab	456fe1c572
4:79125785 FRAS1 C>T	4	79125785	79125785	C	T	FRAS1	c.109-32879C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79125785C>T	(Likely) benign	1 lab	457604ee69
11:6630349 ILK A>G	11	6630349	6630349	A	G	ILK	c.580A>G	NM_001014795.3	NP_001014795.1:p.(Asn194Asp)	NC_000011.9:g.6630349A>G	VUS	1 lab	4578fe39e0
17:72832650 SLC38A12 G>A	17	72832650	72832650	G	A	SLC38A12	c.1315G>A	NM_017728.4	NP_060198.3:p.(Ala439Thr)	NC_000017.10:g.72832650G>A	(Likely) benign	1 lab	4579cfc49d
2:20175437 WDR35 A>G	2	20175437	20175437	A	G	WDR35	c.437-13T>C	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20175437A>G	(Likely) benign	1 lab	457adb8d01
17:41228460 BRCA1 T>G	17	41228460	41228460	T	G	BRCA1	c.4484+45A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228460T>G	(Likely) benign	1 lab	45812595a5
12:110029148 MVK T>G	12	110029148	110029148	T	G	MVK	c.871T>G	NM_000431.2	NP_000422.1:p.(Tyr291Asp)	NC_000012.11:g.110029148T>G	VUS	1 lab	4581e12cb6
5:90012609 ADGRV1 C>G	5	90012609	90012609	C	G	ADGRV1	c.9447+63C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90012609C>G	(Likely) benign	1 lab	4582e08f38
21:38792786 DYRK1A TGGG>T	21	38792786	38792792	TGGG	T	DYRK1A	c.10+104_10+106del	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38792790_38792792del	(Likely) benign	1 lab	4586b17aa4
13:32914519 BRCA2 A>G	13	32914519	32914519	A	G	BRCA2	c.6027A>G	NM_000059.3	NP_000050.2:p.(Gln2009=)	NC_000013.10:g.32914519A>G	VUS	1 lab	4588357ad7
2:73959849 TPRKB C>A	2	73959849	73959849	C	A	TPRKB	c.-34-18G>T	NM_001330390.1	NP_001317319.1:p.?	NC_000002.11:g.73959849C>A	(Likely) benign	1 lab	458cbdbbe5
17:17125815 FLCN C>T	17	17125815	17125815	C	T	FLCN	c.779G>A	NM_144997.7	NP_659434.2:p.(Trp260Ter)	NC_000017.10:g.17125815C>T	(Likely) pathogenic	1 lab	ce560e45cb
19:13249022 NACC1 C>T	19	13249022	13249022	C	T	NACC1	c.1386C>T	NM_052876.4	NP_443108.1:p.(Asp462=)	NC_000019.9:g.13249022C>T	(Likely) benign	1 lab	45954830b5
1:247588320 NLRP3 C>A	1	247588320	247588320	C	A	NLRP3	c.1569C>A	NM_001243133.2	NP_001230062.1:p.(Phe523Leu)	NC_000001.10:g.247588320C>A	(Likely) pathogenic	1 lab	4597d9c1c4
14:23586700 CEBPE C>T	14	23586700	23586700	C	T	CEBPE				NC_000014.8:g.23586700C>T	(Likely) benign	1 lab	459914e713
2:189927926 COL5A2 A>T	2	189927926	189927926	A	T	COL5A2	c.1841T>A	NM_000393.5	NP_000384.2:p.(Met614Lys)	NC_000002.11:g.189927926A>T	(Likely) benign	1 lab	459bd57723
1:161476204 FCGR2A C>T	1	161476204	161476204	C	T	FCGR2A	c.187C>T	NM_001136219.3	NP_001129691.1:p.(Gln63Ter)	NC_000001.10:g.161476204C>T	(Likely) benign	1 lab	459d211a93
15:90172345 KIF7 C>T	15	90172345	90172345	C	T	KIF7	c.3526G>A	NM_198525.3	NP_940927.2:p.(Gly1176Ser)	NC_000015.9:g.90172345C>T	(Likely) benign	1 lab	459e041ed1
8:41574555 ANK1 C>T	8	41574555	41574555	C	T	ANK1	c.1320G>A	NM_000037.4	NP_000028.3:p.(Pro440=)	NC_000008.10:g.41574555C>T	(Likely) benign	1 lab	459f04099b
17:61561756 ACE A>G	17	61561756	61561756	A	G	ACE	c.1775A>G	NM_000789.4	NP_000780.1:p.(Asp592Gly)	NC_000017.10:g.61561756A>G	(Likely) benign	1 lab	459ff2f3da
9:130588027 ENG C>G	9	130588027	130588027	C	G	ENG	c.636G>C	NM_000118.3	NP_000109.1:p.(Val212=)	NC_000009.11:g.130588027C>G	(Likely) benign	1 lab	459ff38f4a
12:103237520 PAH T>C	12	103237520	103237520	T	C	PAH	c.1103A>G	NM_000277.3	NP_000268.1:p.(Glu368Gly)	NC_000012.11:g.103237520T>C	VUS	1 lab	45a5f67b64
3:64633691 ADAMTS9 G>A	3	64633691	64633691	G	A	ADAMTS9	c.1635C>T	NM_182920.2	NP_891550.1:p.(Asn545=)	NC_000003.11:g.64633691G>A	(Likely) benign	1 lab	45a8a9d190
1:7998869 TNFRSF9 G>A	1	7998869	7998869	G	A	TNFRSF9	c.120C>T	NM_001561.6	NP_001552.2:p.(Asn40=)	NC_000001.10:g.7998869G>A	(Likely) benign	1 lab	45b1888e1d
9:139418425 NOTCH1 G>A	9	139418425	139418425	G	A	NOTCH1	c.147C>T	NM_017617.5	NP_060087.3:p.(Gly49=)	NC_000009.11:g.139418425G>A	(Likely) benign	1 lab	45b3686486
14:23866754 MYH6 G>C	14	23866754	23866754	G	C	MYH6	c.1960C>G	NM_002471.3	NP_002462.2:p.(Arg654Gly)	NC_000014.8:g.23866754G>C	(Likely) benign	1 lab	45b4212b43
20:62059800 KCNQ2 G>A	20	62059800	62059800	G	A	KCNQ2	c.1149-12C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62059800G>A	VUS	1 lab	45bc9a3599
X:135313924 MAP7D3 G>C	X	135313924	135313924	G	C	MAP7D3	c.1192C>G	NM_024597.4	NP_078873.2:p.(Leu398Val)	NC_000023.10:g.135313924G>C	(Likely) benign	1 lab	45bcb415fd
10:49609751 MAPK8 A>G	10	49609751	49609751	A	G	MAPK8	c.48A>G	NM_139049.4	NP_620637.1:p.(Gly16=)	NC_000010.10:g.49609751A>G	(Likely) benign	1 lab	45edc9f6be
19:13446664 CACNA1A G>A	19	13446664	13446664	G	A	CACNA1A	c.1038C>T	NM_023035.3	NP_075461.2:p.(Ile346=)	NC_000019.9:g.13446664G>A	(Likely) benign	1 lab	45c8159341
11:62394376 GANAB G>T	11	62394376	62394376	G	T	GANAB	c.2419C>A	NM_198335.4	NP_938149.2:p.(His807Asn)	NC_000011.9:g.62394376G>T	(Likely) benign	1 lab	45c8e15899
14:65268513 SPTB C>T	14	65268513	65268513	C	T	SPTB	c.606G>A	NM_001024858.3	NP_001020029.1:p.(Trp202Ter)	NC_000014.8:g.65268513C>T	(Likely) pathogenic	1 lab	45ca0d6cb1
16:67680106 CARMIL2 G>A	16	67680106	67680106	G	A	CARMIL2	c.267G>A	NM_001013838.3	NP_001013860.1:p.(Glu89=)	NC_000016.9:g.67680106G>A	(Likely) benign	1 lab	45caa3d22e
15:43242562 UBR1 C>G	15	43242562	43242562	C	G	UBR1	c.5007-1G>C	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43242562C>G	(Likely) pathogenic	1 lab	45cb85f3a3
1:158656347 SPTA1 C>CAG	1	158656347	158656366	C	CAG	SPTA1	c.-42_-41dup	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656365_158656366dup	(Likely) benign	1 lab	45d98d526b
16:2141875 PKD1 TCATACACGGCACAGGAGCCCCAGGAC>T	16	2141875	2141904	TCATACACGGCACAGGAGCCCCAGGAC	T	PKD1	c.11418_11443del	NM_001009944.3	NP_001009944.3:p.(Trp3806Ter)	NC_000016.9:g.2141879_2141904del	(Likely) pathogenic	1 lab	45fa47ffdb
16:3304361 MEFV C>A	16	3304361	3304361	C	A	MEFV	c.707G>T	NM_000243.2	NP_000234.1:p.(Gly236Val)	NC_000016.9:g.3304361C>A	VUS	1 lab	45fc715562
X:53285244 IQSEC2 C>G	X	53285244	53285244	C	G	IQSEC2	c.738-1G>C	NM_001111125.3	NP_001104595.1:p.?	NC_000023.10:g.53285244C>G	(Likely) pathogenic	1 lab	45fec688ef
22:32233266 DEPDC5 AGAG>A	22	32233266	32233272	AGAG	A	DEPDC5	c.2354+129_2354+131del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32233270_32233272del	(Likely) benign	1 lab	460250244b
2:166611165 GALNT3 T>TA	2	166611165	166611166	T	TA	GALNT3	c.1597dup	NM_004482.4	NP_004473.2:p.(Tyr533LeufsTer13)	NC_000002.11:g.166611166dup	(Likely) pathogenic	1 lab	460345bdb7
1:245020022 HNRNPU C>A	1	245020022	245020022	C	A	HNRNPU	c.1743+8G>T	NM_031844.3	NP_114032.2:p.?	NC_000001.10:g.245020022C>A	(Likely) benign	1 lab	460598c17f
17:6606315 SLC13A5 G>A	17	6606315	6606315	G	A	SLC13A5	c.690C>T	NM_177550.4	NP_808218.1:p.(Asn230=)	NC_000017.10:g.6606315G>A	(Likely) benign	1 lab	460763dcd4
22:32193856 DEPDC5 G>A	22	32193856	32193856	G	A	DEPDC5	c.871+167G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32193856G>A	(Likely) benign	1 lab	460a963d59
1:22176959 HSPG2 C>T	1	22176959	22176959	C	T	HSPG2	c.7194G>A	NM_001291860.2	NP_001278789.1:p.(Ala2398=)	NC_000001.10:g.22176959C>T	(Likely) benign	1 lab	460b47e7c5
20:47874101 ZNFX1 C>G	20	47874101	47874101	C	G	ZNFX1	c.2517G>C	NM_021035.3	NP_066363.1:p.(Glu839Asp)	NC_000020.10:g.47874101C>G	(Likely) benign	1 lab	460bbdefe9
9:126136934 CRB2 G>A	9	126136934	126136934	G	A	CRB2	c.3466G>A	NM_173689.7	NP_775960.4:p.(Ala1156Thr)	NC_000009.11:g.126136934G>A	(Likely) benign	1 lab	460ebff78f
1:236924324 ACTN2 G>T	1	236924324	236924324	G	T	ACTN2	c.2377G>T	NM_001103.3	NP_001094.1:p.(Glu793Ter)	NC_000001.10:g.236924324G>T	VUS	1 lab	4619169154
16:2159803 PKD1 AG>A	16	2159803	2159804	AG	A	PKD1	c.5364del	NM_001009944.3	NP_001009944.3:p.(Ser1789GlnfsTer14)	NC_000016.9:g.2159804del	(Likely) pathogenic	1 lab	461aab6d04
13:113770030 F7 A>G	13	113770030	113770030	A	G	F7	c.487A>G	NM_000131.4	NP_000122.1:p.(Ser163Gly)	NC_000013.10:g.113770030A>G	(Likely) pathogenic	1 lab	461dc8b02e
6:51918875 PKHD1 G>A	6	51918875	51918875	G	A	PKHD1	c.1925C>T	NM_138694.4	NP_619639.3:p.(Thr642Ile)	NC_000006.11:g.51918875G>A	(Likely) benign	1 lab	4621873352
1:120483382 NOTCH2 A>G	1	120483382	120483382	A	G	NOTCH2	c.2982-3T>C	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120483382A>G	(Likely) benign	1 lab	4623336dca
1:247587382 NLRP3 G>A	1	247587382	247587382	G	A	NLRP3	c.631G>A	NM_001243133.2	NP_001230062.1:p.(Asp211Asn)	NC_000001.10:g.247587382G>A	VUS	1 lab	4623804ff3
19:11304452 KANK2 A>G	19	11304452	11304452	A	G	KANK2	c.304T>C	NM_001136191.2	NP_001129663.1:p.(Tyr102His)	NC_000019.9:g.11304452A>G	(Likely) benign	1 lab	46274ed623
13:32911427 BRCA2 A>G	13	32911427	32911427	A	G	BRCA2	c.2935A>G	NM_000059.3	NP_000050.2:p.(Ile979Val)	NC_000013.10:g.32911427A>G	(Likely) benign	1 lab	4629046219
2:179518632 TTN G>T	2	179518632	179518632	G	T	TTN	c.38465-8C>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179518632G>T	(Likely) benign	1 lab	46338b000f
22:32293664 DEPDC5 T>G	22	32293664	32293664	T	G	DEPDC5	c.4375+25T>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32293664T>G	(Likely) benign	1 lab	46357516bf
12:6442584 TNFRSF1A A>G	12	6442584	6442584	A	G	TNFRSF1A	c.421T>C	NM_001065.3	NP_001056.1:p.(Phe141Leu)	NC_000012.11:g.6442584A>G	(Likely) pathogenic	1 lab	463784713f
8:28575586 EXTL3 T>C	8	28575586	28575586	T	C	EXTL3	c.2010T>C	NM_001440.4	NP_001431.1:p.(Tyr670=)	NC_000008.10:g.28575586T>C	(Likely) benign	1 lab	46398c4e5d
8:41581180 ANK1 C>A	8	41581180	41581180	C	A	ANK1	c.712-29G>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41581180C>A	(Likely) benign	1 lab	463a78b1fa
X:153629248 RPL10 C>T	X	153629248	153629248	C	T	RPL10	c.535C>T	NM_001256577.2	NP_001243506.2:p.(Leu179=)	NC_000023.10:g.153629248C>T	(Likely) benign	1 lab	463a7ddf1b
8:100479917 VPS13B T>C	8	100479917	100479917	T	C	VPS13B	c.3666+55T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100479917T>C	(Likely) benign	1 lab	463c815fc4
17:73830391 UNC13D G>A	17	73830391	73830391	G	A	UNC13D	c.2298+15C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73830391G>A	(Likely) benign	1 lab	463c919d56
19:50905586 POLD1 G>A	19	50905586	50905586	G	A	POLD1	c.714G>A	NM_002691.4	NP_002682.2:p.(Thr238=)	NC_000019.9:g.50905586G>A	(Likely) benign	1 lab	463cf1be37
7:150674914 KCNH2 T>C	7	150674914	150674914	T	C	KCNH2	c.76+12A>G	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150674914T>C	(Likely) benign	1 lab	463f19f609
3:137882704 DBR1 G>A	3	137882704	137882704	G	A	DBR1	c.715-4C>T	NM_016216.4	NP_057300.2:p.?	NC_000003.11:g.137882704G>A	(Likely) benign	1 lab	4641e291e5
2:64331815 PELI1 C>CTTT	2	64331815	64331832	C	CTTT	PELI1	c.201+17_201+19dup	NM_020651.4	NP_065702.2:p.?	NC_000002.11:g.64331830_64331832dup	(Likely) benign	1 lab	46426da4fd
1:40751632 ZMPSTE24 C>T	1	40751632	40751632	C	T	ZMPSTE24				NC_000001.10:g.40751632C>T	(Likely) benign	1 lab	4649044a2f
X:53222043 KDM5C A>AC	X	53222043	53222049	A	AC	KDM5C	c.*105dup	NM_004187.4	NP_004178.2:p.?	NC_000023.10:g.53222049dup	(Likely) benign	1 lab	464a627134
9:35060746 VCP A>G	9	35060746	35060746	A	G	VCP	c.1482+52T>C	NM_007126.3	NP_009057.1:p.?	NC_000009.11:g.35060746A>G	(Likely) benign	1 lab	464daa557c
8:102678916 GRHL2 G>A	8	102678916	102678916	G	A	GRHL2	c.1863G>A	NM_024915.4	NP_079191.2:p.(Thr621=)	NC_000008.10:g.102678916G>A	(Likely) benign	1 lab	464e5013ca
5:89854666 ADGRV1 G>C	5	89854666	89854666	G	C	ADGRV1	c.-47G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89854666G>C	(Likely) benign	1 lab	4652f4007c
14:45645627 FANCM T>C	14	45645627	45645627	T	C	FANCM	c.3670T>C	NM_020937.4	NP_065988.1:p.(Ser1224Pro)	NC_000014.8:g.45645627T>C	VUS	1 lab	ce58c92f70
1:40542760 PPT1 G>A	1	40542760	40542760	G	A	PPT1	c.727-175C>T	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40542760G>A	(Likely) benign	1 lab	4654b5d47e
18:57147479 CCBE1 C>T	18	57147479	57147479	C	T	CCBE1	c.213-9G>A	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57147479C>T	(Likely) benign	1 lab	465d009087
16:3724514 TRAP1 G>A	16	3724514	3724514	G	A	TRAP1	c.889-19C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3724514G>A	(Likely) benign	1 lab	465e61c696
11:46898319 LRP4 G>A	11	46898319	46898319	G	A	LRP4	c.3340C>T	NM_002334.3	NP_002325.2:p.(Gln1114Ter)	NC_000011.9:g.46898319G>A	(Likely) pathogenic	1 lab	465f4ccb97
1:206943297 IL10 A>G	1	206943297	206943297	A	G	IL10	c.379-58T>C	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206943297A>G	(Likely) benign	1 lab	465f7d9022
22:37640138 RAC2 C>T	22	37640138	37640138	C	T	RAC2	c.35+16G>A	NM_002872.3	NP_002863.1:p.?	NC_000022.10:g.37640138C>T	(Likely) benign	1 lab	4694911e0e
17:37884037 ERBB2 C>G	17	37884037	37884037	C	G	ERBB2	c.3418C>G	NM_001005862.3	NP_001005862.1:p.(Pro1140Ala)	NC_000017.10:g.37884037C>G	(Likely) benign	1 lab	ce5d4113a0
2:166201224 SCN2A A>G	2	166201224	166201224	A	G	SCN2A	c.2722A>G	NM_021007.3	NP_066287.2:p.(Lys908Glu)	NC_000002.11:g.166201224A>G	(Likely) pathogenic	1 lab	4661967779
16:50759450 NOD2 G>A	16	50759450	50759450	G	A	NOD2	c.2933G>A	NM_022162.3	NP_071445.1:p.(Gly978Glu)	NC_000016.9:g.50759450G>A	(Likely) benign	1 lab	ce60252770
19:613241 HCN2 C>A	19	613241	613241	C	A	HCN2	c.1585-7C>A	NM_001194.4	NP_001185.3:p.?	NC_000019.9:g.613241C>A	(Likely) benign	1 lab	46661f253d
4:169842740 PALLD G>A	4	169842740	169842740	G	A	PALLD	c.2906G>A	NM_001166108.2	NP_001159580.1:p.(Arg969His)	NC_000004.11:g.169842740G>A	VUS	1 lab	ce626381e3
1:6270422 RNF207 TC>T	1	6270422	6270427	TC	T	RNF207	c.874-3del	NM_207396.3	NP_997279.2:p.?	NC_000001.10:g.6270427del	(Likely) benign	1 lab	466ed0ece5
15:42132441 JMJD7-PLA2G4B C>T	15	42132441	42132441	C	T	JMJD7-PLA2G4B	c.775+13C>T	NM_005090.3	NP_005081.1:p.?	NC_000015.9:g.42132441C>T	(Likely) benign	1 lab	46718aa8bc
20:61981887 CHRNA4 G>A	20	61981887	61981887	G	A	CHRNA4	c.876C>T	NM_000744.6	NP_000735.1:p.(Ile292=)	NC_000020.10:g.61981887G>A	(Likely) benign	1 lab	4671bc34b0
13:52524252 ATP7B G>A	13	52524252	52524252	G	A	ATP7B	c.2621C>T	NM_000053.4	NP_000044.2:p.(Ala874Val)	NC_000013.10:g.52524252G>A	(Likely) pathogenic	1 lab	4679af1813
12:52885366 KRT6A C>T	12	52885366	52885366	C	T	KRT6A	c.695G>A	NM_005554.4	NP_005545.1:p.(Arg232Gln)	NC_000012.11:g.52885366C>T	(Likely) benign	1 lab	ce64a07731
7:100421278 EPHB4 G>T	7	100421278	100421278	G	T	EPHB4	c.399C>A	NM_004444.5	NP_004435.3:p.(Asn133Lys)	NC_000007.13:g.100421278G>T	VUS	1 lab	ce670edaf8
X:21508564 CNKSR2 T>A	X	21508564	21508564	T	A	CNKSR2	c.562-13T>A	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21508564T>A	(Likely) benign	1 lab	4688303919
6:53365154 GCLC G>A	6	53365154	53365154	G	A	GCLC	c.1478-6C>T	NM_001498.4	NP_001489.1:p.?	NC_000006.11:g.53365154G>A	(Likely) benign	1 lab	4689d889ae
20:35540729 SAMHD1 T>A	20	35540729	35540729	T	A	SAMHD1	c.1154+135A>T	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35540729T>A	(Likely) benign	1 lab	468ba0564c
11:64573699 MEN1 C>T	11	64573699	64573699	C	T	MEN1	c.1064+5G>A	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64573699C>T	(Likely) pathogenic	1 lab	468ba4d448
X:110390947 PAK3 C>A	X	110390947	110390947	C	A	PAK3	c.277-18C>A	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110390947C>A	(Likely) benign	1 lab	468bc9961f
9:131345143 SPTAN1 G>T	9	131345143	131345143	G	T	SPTAN1	c.1806+15G>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131345143G>T	(Likely) benign	1 lab	468bd367be
X:76938475 ATRX T>C	X	76938475	76938475	T	C	ATRX	c.2273A>G	NM_000489.5	NP_000480.3:p.(His758Arg)	NC_000023.10:g.76938475T>C	(Likely) benign	1 lab	46930e64f3
5:89971253 ADGRV1 G>A	5	89971253	89971253	G	A	ADGRV1	c.5304G>A	NM_032119.4	NP_115495.3:p.(Glu1768=)	NC_000005.9:g.89971253G>A	(Likely) benign	1 lab	469770b732
1:243468018 SDCCAG8 A>T	1	243468018	243468018	A	T	SDCCAG8	c.679A>T	NM_006642.5	NP_006633.1:p.(Lys227Ter)	NC_000001.10:g.243468018A>T	(Likely) pathogenic	1 lab	469c780692
12:67197686 GRIP1 G>A	12	67197686	67197686	G	A	GRIP1	c.133+147C>T	NM_001366724.1	NP_001353653.1:p.?	NC_000012.11:g.67197686G>A	(Likely) benign	1 lab	469ea0a186
14:24617256 RNF31 C>T	14	24617256	24617256	C	T	RNF31	c.264C>T	NM_017999.5	NP_060469.4:p.(Ser88=)	NC_000014.8:g.24617256C>T	(Likely) benign	1 lab	46a4571c07
19:42406062 ARHGEF1 C>T	19	42406062	42406062	C	T	ARHGEF1	c.1338C>T	NM_199002.2	NP_945353.1:p.(His446=)	NC_000019.9:g.42406062C>T	(Likely) benign	1 lab	46a6f5a3e3
12:108930323 SART3 G>T	12	108930323	108930323	G	T	SART3	c.1413C>A	NM_014706.4	NP_055521.1:p.(Ser471Arg)	NC_000012.11:g.108930323G>T	VUS	1 lab	46a85c0d4f
16:56385287 GNAO1 C>T	16	56385287	56385287	C	T	GNAO1	c.724-9C>T	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56385287C>T	(Likely) benign	1 lab	46a9696aa0
9:123792654 C5 C>CA	9	123792654	123792661	C	CA	C5	c.758+20dup	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123792661dup	(Likely) benign	1 lab	46aa55ab37
12:54928920 NCKAP1L T>C	12	54928920	54928920	T	C	NCKAP1L	c.2895T>C	NM_005337.5	NP_005328.2:p.(Ala965=)	NC_000012.11:g.54928920T>C	(Likely) benign	1 lab	46b319412b
13:39448455 FREM2 A>G	13	39448455	39448455	A	G	FREM2	c.8177-164A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39448455A>G	(Likely) benign	1 lab	46b60969d3
16:2139989 PKD1 G>A	16	2139989	2139989	G	A	PKD1	c.12651C>T	NM_001009944.2	NP_001009944.2:p.(Ala4217=)	NC_000016.9:g.2139989G>A	(Likely) benign	1 lab	46b779cc53
11:64033961 PLCB3 G>A	11	64033961	64033961	G	A	PLCB3	c.3357-6G>A	NM_000932.3	NP_000923.1:p.?	NC_000011.9:g.64033961G>A	(Likely) benign	1 lab	46b89723e3
2:179404580 TTN A>C	2	179404580	179404580	A	C	TTN	c.71392T>G	NM_133432.3	NP_597676.3:p.(Trp23798Gly)	NC_000002.11:g.179404580A>C	VUS	1 lab	46b8a1bf8e
4:79457982 FRAS1 G>A	4	79457982	79457982	G	A	FRAS1	c.11093-167G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79457982G>A	(Likely) benign	1 lab	46b8addb75
1:1959699 GABRD G>A	1	1959699	1959699	G	A	GABRD	c.659G>A	NM_000815.5	NP_000806.2:p.(Arg220His)	NC_000001.10:g.1959699G>A	(Likely) benign	1 lab	46bcdb67f2
3:46899701 MYL3 A>G	3	46899701	46899701	A	G	MYL3	c.*13+20T>C	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899701A>G	(Likely) benign	1 lab	46bd744bef
2:179416879 TTN C>T	2	179416879	179416879	C	T	TTN	c.90748G>A	NM_001267550.2	NP_001254479.2:p.(Glu30250Lys)	NC_000002.11:g.179416879C>T	VUS	1 lab	ce679db5fa
11:77820580 ALG8 T>C	11	77820580	77820580	T	C	ALG8	c.946A>G	NM_024079.5	NP_076984.2:p.(Met316Val)	NC_000011.9:g.77820580T>C	VUS	1 lab	ce6927a866
16:1262544 CACNA1H C>T	16	1262544	1262544	C	T	CACNA1H	c.4777+16C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1262544C>T	(Likely) benign	1 lab	46c2b3f4d4
14:65233976 SPTB A>G	14	65233976	65233976	A	G	SPTB	c.6269+45T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65233976A>G	(Likely) benign	1 lab	46c3be8666
17:42328598 SLC4A1 C>T	17	42328598	42328598	C	T	SLC4A1	c.2584G>A	NM_000342.4	NP_000333.1:p.(Val862Ile)	NC_000017.10:g.42328598C>T	(Likely) benign	1 lab	46c4af903c
22:35783154 HMOX1 C>T	22	35783154	35783154	C	T	HMOX1	c.621C>T	NM_002133.3	NP_002124.1:p.(Phe207=)	NC_000022.10:g.35783154C>T	(Likely) benign	1 lab	46c55587dc
1:247586563 NLRP3 T>C	1	247586563	247586563	T	C	NLRP3	c.309T>C	NM_001243133.2	NP_001230062.1:p.(Thr103=)	NC_000001.10:g.247586563T>C	(Likely) benign	1 lab	46c5a5bfaf
14:65268404 SPTB G>T	14	65268404	65268404	G	T	SPTB	c.647+68C>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268404G>T	(Likely) benign	1 lab	46c74dff90
10:115417289 NRAP G>A	10	115417289	115417289	G	A	NRAP	c.300C>T	NM_001261463.2	NP_001248392.1:p.(His100=)	NC_000010.10:g.115417289G>A	(Likely) benign	1 lab	ce6965c2d8
13:39265234 FREM2 C>T	13	39265234	39265234	C	T	FREM2	c.3753C>T	NM_207361.6	NP_997244.4:p.(Ser1251=)	NC_000013.10:g.39265234C>T	(Likely) benign	1 lab	46ccaa7920
22:32162839 DEPDC5 T>A	22	32162839	32162839	T	A	DEPDC5	c.363+185T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32162839T>A	(Likely) benign	1 lab	46cdba02a4
7:47884583 PKD1L1 T>A	7	47884583	47884583	T	A	PKD1L1	c.5237+10A>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47884583T>A	(Likely) benign	1 lab	46d1eecd17
12:48240233 VDR G>A	12	48240233	48240233	G	A	VDR	c.909C>T	NM_001017535.1	NP_001017535.1:p.(Ala303=)	NC_000012.11:g.48240233G>A	(Likely) benign	1 lab	46d34b2b02
17:17127319 FLCN G>A	17	17127319	17127319	G	A	FLCN	c.535C>T	NM_001353230.2	NP_001340159.1:p.(Arg179Trp)	NC_000017.10:g.17127319G>A	VUS	1 lab	46dd8e80bc
11:47364116 MYBPC3 C>T	11	47364116	47364116	C	T	MYBPC3	c.1624+13G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364116C>T	(Likely) benign	1 lab	46ddf75778
7:36438672 ANLN A>G	7	36438672	36438672	A	G	ANLN	c.173-16A>G	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36438672A>G	(Likely) benign	1 lab	46e7573b5e
3:49160272 LAMB2 T>C	3	49160272	49160272	T	C	LAMB2	c.4438A>G	NM_002292.4	NP_002283.3:p.(Thr1480Ala)	NC_000003.11:g.49160272T>C	(Likely) benign	1 lab	46f38c3c42
2:24439115 ITSN2 A>C	2	24439115	24439115	A	C	ITSN2	c.3765-14T>G	NM_001348181.2	NP_001335110.1:p.?	NC_000002.11:g.24439115A>C	(Likely) benign	1 lab	46f49dbd40
11:36597001 RAG1 G>A	11	36597001	36597001	G	A	RAG1	c.2147G>A	NM_000448.2	NP_000439.1:p.(Arg716Gln)	NC_000011.9:g.36597001G>A	(Likely) pathogenic	1 lab	46f4ea2739
10:6060054 IL2RA G>A	10	6060054	6060054	G	A	IL2RA	c.756C>T	NM_000417.2	NP_000408.1:p.(Ser252=)	NC_000010.10:g.6060054G>A	(Likely) benign	1 lab	46f61d5c0a
16:11650542 LITAF T>C	16	11650542	11650542	T	C	LITAF	c.45A>G	NM_004862.3	NP_004853.2:p.(Ser15=)	NC_000016.9:g.11650542T>C	(Likely) benign	1 lab	46fa88b491
15:57924714 MYZAP A>C	15	57924714	57924714	A	C	MYZAP	c.761A>C	NM_001018100.5	NP_001018110.1:p.(Gln254Pro)	NC_000015.9:g.57924714A>C	(Likely) benign	1 lab	46fea9004f
13:39262999 FREM2 C>T	13	39262999	39262999	C	T	FREM2	c.1518C>T	NM_207361.6	NP_997244.4:p.(Ser506=)	NC_000013.10:g.39262999C>T	(Likely) benign	1 lab	47051d15e8
17:61176516 TANC2 G>T	17	61176516	61176516	G	T	TANC2	c.140-20G>T	NM_025185.4	NP_079461.2:p.?	NC_000017.10:g.61176516G>T	(Likely) benign	1 lab	470db32f2b
7:47968850 PKD1L1 G>C	7	47968850	47968850	G	C	PKD1L1	c.1011C>G	NM_138295.5	NP_612152.1:p.(His337Gln)	NC_000007.13:g.47968850G>C	(Likely) benign	1 lab	47105d60a4
20:60899167 LAMA5 AGCTGACACAGGGGGCGCTGGGGTCGTCCCTGCTGCTCACGAAGCCAGCCTGGCAGC>A	20	60899167	60899226	AGCTGACACAGGGGGCGCTGGGGTCGTCCCTGCTGCTCACGAAGCCAGCCTGGCAGC	A	LAMA5	c.5681_5736del	NM_005560.6	NP_005551.3:p.(Arg1894LeufsTer64)	NC_000020.10:g.60899171_60899226del	(Likely) pathogenic	1 lab	471302c33d
X:53423512 SMC1A A>T	X	53423512	53423512	A	T	SMC1A	c.2588T>A	NM_006306.3	NP_006297.2:p.(Ile863Lys)	NC_000023.10:g.53423512A>T	VUS	1 lab	47207e0287
19:54385513 PRKCG C>T	19	54385513	54385513	C	T	PRKCG	c.-236C>T	NM_002739.3	NP_002730.1:p.?	NC_000019.9:g.54385513C>T	VUS	1 lab	4720a13050
2:241810831 AGXT G>A	2	241810831	241810831	G	A	AGXT	c.489G>A	NM_000030.3	NP_000021.1:p.(Leu163=)	NC_000002.11:g.241810831G>A	(Likely) benign	1 lab	47243842bc
1:149763003 FCGR1A A>T	1	149763003	149763003	A	T	FCGR1A	c.1055A>T	NM_000566.3	NP_000557.1:p.(Lys352Ile)	NC_000001.10:g.149763003A>T	(Likely) benign	1 lab	472a6fcfd2
9:80943948 PSAT1 C>T	9	80943948	80943948	C	T	PSAT1	c.1059C>T	NM_058179.4	NP_478059.1:p.(Asp353=)	NC_000009.11:g.80943948C>T	(Likely) benign	1 lab	472e1106ea
16:81990455 PLCG2 C>A	16	81990455	81990455	C	A	PLCG2	c.3726C>A	NM_002661.3	NP_002652.2:p.(Leu1242=)	NC_000016.9:g.81990455C>A	(Likely) benign	1 lab	472e1556bb
2:228159983 COL4A3 A>G	2	228159983	228159983	A	G	COL4A3	c.3518-2A>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159983A>G	(Likely) pathogenic	1 lab	472f56735c
X:53279747 IQSEC2 C>T	X	53279747	53279747	C	T	IQSEC2	c.2011G>A	NM_001111125.3	NP_001104595.1:p.(Gly671Arg)	NC_000023.10:g.53279747C>T	VUS	1 lab	47338c30b2
22:32200161 DEPDC5 T>C	22	32200161	32200161	T	C	DEPDC5	c.1095T>C	NM_001242896.3	NP_001229825.1:p.(Asp365=)	NC_000022.10:g.32200161T>C	(Likely) benign	1 lab	4735fa178d
3:64627587 ADAMTS9 C>A	3	64627587	64627587	C	A	ADAMTS9	c.1793G>T	NM_182920.2	NP_891550.1:p.(Gly598Val)	NC_000003.11:g.64627587C>A	(Likely) benign	1 lab	473c104424
7:91867091 KRIT1 G>C	7	91867091	91867091	G	C	KRIT1	c.263-18C>G	NM_194456.1	NP_919438.1:p.?	NC_000007.13:g.91867091G>C	VUS	1 lab	47425e0d25
7:45109583 CCM2 G>T	7	45109583	45109583	G	T	CCM2	c.808+23G>T	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45109583G>T	(Likely) benign	1 lab	47457577ad
14:95582024 DICER1 C>T	14	95582024	95582024	C	T	DICER1	c.1887G>A	NM_177438.2	NP_803187.1:p.(Thr629=)	NC_000014.8:g.95582024C>T	(Likely) benign	1 lab	4749bd7b15
8:41563791 ANK1 T>G	8	41563791	41563791	T	G	ANK1	c.1999-32A>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41563791T>G	(Likely) benign	1 lab	4c85507bc3
2:220023045 NHEJ1 C>T	2	220023045	220023045	C	T	NHEJ1	c.40G>A	NM_024782.2	NP_079058.1:p.(Ala14Thr)	NC_000002.11:g.220023045C>T	(Likely) benign	1 lab	474ee084b4
10:96005710 PLCE1 A>G	10	96005710	96005710	A	G	PLCE1	c.2428A>G	NM_016341.3	NP_057425.3:p.(Ile810Val)	NC_000010.10:g.96005710A>G	(Likely) benign	1 lab	474f4f4c05
11:1254407 MUC5B G>A	11	1254407	1254407	G	A	MUC5B	c.2230G>A	NM_002458.3	NP_002449.2:p.(Gly744Ser)	NC_000011.9:g.1254407G>A	(Likely) benign	1 lab	ce6e35f5a8
11:36614270 RAG2 C>T	11	36614270	36614270	C	T	RAG2	c.1449G>A	NM_001243786.1	NP_001230715.1:p.(Glu483=)	NC_000011.9:g.36614270C>T	(Likely) benign	1 lab	4756b056b4
4:79460375 FRAS1 C>T	4	79460375	79460375	C	T	FRAS1	c.11299-73C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79460375C>T	(Likely) benign	1 lab	475730cd42
20:42788348 JPH2 T>C	20	42788348	42788348	T	C	JPH2	c.1079A>G	NM_020433.4	NP_065166.2:p.(Asn360Ser)	NC_000020.10:g.42788348T>C	(Likely) benign	1 lab	475f93c6f8
17:61571446 ACE G>A	17	61571446	61571446	G	A	ACE	c.3281+19G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61571446G>A	(Likely) benign	1 lab	4760183eec
2:189943266 COL5A2 C>G	2	189943266	189943266	C	G	COL5A2	c.1035G>C	NM_000393.5	NP_000384.2:p.(Gly345=)	NC_000002.11:g.189943266C>G	(Likely) benign	1 lab	4764468eea
1:235944327 LYST A>G	1	235944327	235944327	A	G	LYST	c.5052T>C	NM_000081.3	NP_000072.2:p.(Phe1684=)	NC_000001.10:g.235944327A>G	(Likely) benign	1 lab	4765696618
19:11303889 KANK2 G>A	19	11303889	11303889	G	A	KANK2	c.867C>T	NM_001136191.2	NP_001129663.1:p.(Val289=)	NC_000019.9:g.11303889G>A	(Likely) benign	1 lab	4767429979
2:166170312 SCN2A A>C	2	166170312	166170312	A	C	SCN2A	c.1176+41A>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166170312A>C	(Likely) benign	1 lab	47675fe643
11:2400707 CD81 C>T	11	2400707	2400707	C	T	CD81	c.66+1862C>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2400707C>T	(Likely) benign	1 lab	4768666718
X:22263457 PHEX G>A	X	22263457	22263457	G	A	PHEX	c.2078G>A	NM_000444.6	NP_000435.3:p.(Cys693Tyr)	NC_000023.10:g.22263457G>A	(Likely) pathogenic	1 lab	476c24cfdd
12:6439826 TNFRSF1A G>C	12	6439826	6439826	G	C	TNFRSF1A	c.677C>G	NM_001065.3	NP_001056.1:p.(Ser226Cys)	NC_000012.11:g.6439826G>C	VUS	1 lab	476c8e8762
11:74168314 KCNE3 G>A	11	74168314	74168314	G	A	KCNE3	c.295C>T	NM_005472.4	NP_005463.1:p.(Arg99Cys)	NC_000011.9:g.74168314G>A	(Likely) pathogenic	1 lab	4772a4c9d0
11:118372536 KMT2A C>T	11	118372536	118372536	C	T	KMT2A	c.6469C>T	NM_001197104.2	NP_001184033.1:p.(Gln2157Ter)	NC_000011.9:g.118372536C>T	(Likely) pathogenic	1 lab	ce6f7cdb2c
3:30691936 TGFBR2 C>T	3	30691936	30691936	C	T	TGFBR2	c.513C>T	NM_001024847.2	NP_001020018.1:p.(Asn171=)	NC_000003.11:g.30691936C>T	(Likely) benign	1 lab	4775b75022
19:45991975 RTN2 AG>A	19	45991975	45991977	AG	A	RTN2	c.1381-12del	NM_005619.5	NP_005610.1:p.?	NC_000019.9:g.45991977del	(Likely) benign	1 lab	477699e404
1:11288950 MTOR C>T	1	11288950	11288950	C	T	MTOR	c.2805G>A	NM_004958.3	NP_004949.1:p.(Leu935=)	NC_000001.10:g.11288950C>T	(Likely) benign	1 lab	4778ebe7ac
7:138418931 ATP6V0A4 C>T	7	138418931	138418931	C	T	ATP6V0A4	c.1641G>A	NM_020632.3	NP_065683.2:p.(Leu547=)	NC_000007.13:g.138418931C>T	(Likely) benign	1 lab	477ab89d78
1:237924239 RYR2 T>C	1	237924239	237924239	T	C	RYR2	c.11403-16T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237924239T>C	(Likely) benign	1 lab	477ae7f156
9:101498824 ANKS6 G>A	9	101498824	101498824	G	A	ANKS6	c.2593C>T	NM_173551.5	NP_775822.3:p.(Pro865Ser)	NC_000009.11:g.101498824G>A	(Likely) benign	1 lab	477b0f785d
3:64142859 PRICKLE2 C>T	3	64142859	64142859	C	T	PRICKLE2	c.579G>A	NM_198859.4	NP_942559.1:p.(Pro193=)	NC_000003.11:g.64142859C>T	(Likely) benign	1 lab	4781737bae
5:40959603 C7 A>G	5	40959603	40959603	A	G	C7	c.1542A>G	NM_000587.2	NP_000578.2:p.(Gln514=)	NC_000005.9:g.40959603A>G	(Likely) benign	1 lab	478334c832
5:90119550 ADGRV1 T>C	5	90119550	90119550	T	C	ADGRV1	c.16368+137T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90119550T>C	(Likely) benign	1 lab	47847ad620
1:155265549 PKLR T>G	1	155265549	155265549	T	G	PKLR	c.284-2A>C	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155265549T>G	(Likely) pathogenic	1 lab	478955abe1
3:78695291 ROBO1 T>G	3	78695291	78695291	T	G	ROBO1	c.2882+7A>C	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78695291T>G	(Likely) benign	1 lab	4789e89677
2:179400435 TTN A>AT	2	179400435	179400436	A	AT	TTN	c.74086dup	NM_133432.3	NP_597676.3:p.(Ile24696AsnfsTer2)	NC_000002.11:g.179400436dup	(Likely) pathogenic	1 lab	478ac773bb
15:63335110 TPM1 G>C	15	63335110	63335110	G	C	TPM1	c.82G>C	NM_001365776.1	NP_001352705.1:p.(Asp28His)	NC_000015.9:g.63335110G>C	VUS	1 lab	479105ea43
4:79285205 FRAS1 C>T	4	79285205	79285205	C	T	FRAS1	c.2719C>T	NM_025074.7	NP_079350.5:p.(Gln907Ter)	NC_000004.11:g.79285205C>T	VUS	1 lab	479a71b023
19:55447612 NLRP7 G>T	19	55447612	55447612	G	T	NLRP7	c.2300+17C>A	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55447612G>T	(Likely) benign	1 lab	479ceb7a2c
6:45480190 RUNX2 G>A	6	45480190	45480190	G	A	RUNX2	c.1021+46G>A	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45480190G>A	(Likely) benign	1 lab	47a11dc5a9
8:143996241 CYP11B2 G>A	8	143996241	143996241	G	A	CYP11B2	c.679C>T	NM_000498.3	NP_000489.3:p.(Leu227=)	NC_000008.10:g.143996241G>A	(Likely) benign	1 lab	47a40c9398
2:73675224 ALMS1 A>ACTC	2	73675224	73675225	A	ACTC	ALMS1	c.1570_1571insCTC	NM_015120.4	NP_055935.4:p.(Ser524delinsThrArg)	NC_000002.11:g.73675224_73675225insCTC	(Likely) benign	1 lab	47a56ef495
16:2157956 PKD1 C>T	16	2157956	2157956	C	T	PKD1	c.6993G>A	NM_001009944.2	NP_001009944.2:p.(Ala2331=)	NC_000016.9:g.2157956C>T	(Likely) benign	1 lab	47aaa89e0b
19:59060526 TRIM28 C>T	19	59060526	59060526	C	T	TRIM28	c.1581C>T	NM_005762.3	NP_005753.1:p.(Ala527=)	NC_000019.9:g.59060526C>T	(Likely) benign	1 lab	47ae361d15
1:235966223 LYST C>T	1	235966223	235966223	C	T	LYST	c.3697G>A	NM_000081.3	NP_000072.2:p.(Glu1233Lys)	NC_000001.10:g.235966223C>T	(Likely) benign	1 lab	47b102d559
2:191929526 STAT4 G>C	2	191929526	191929526	G	C	STAT4	c.782+7C>G	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191929526G>C	(Likely) benign	1 lab	47b6759e15
5:127744477 FBN2 C>T	5	127744477	127744477	C	T	FBN2	c.968G>A	NM_001999.4	NP_001990.2:p.(Ser323Asn)	NC_000005.9:g.127744477C>T	(Likely) benign	1 lab	47ba2d1ec2
1:6270956 RNF207 C>T	1	6270956	6270956	C	T	RNF207	c.969C>T	NM_207396.3	NP_997279.2:p.(Ile323=)	NC_000001.10:g.6270956C>T	(Likely) benign	1 lab	47bc9ab2f6
2:228142111 COL4A3 T>C	2	228142111	228142111	T	C	COL4A3	c.2021-54T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228142111T>C	(Likely) benign	1 lab	47c009a30a
22:19902718 TXNRD2 AT>A	22	19902718	19902719	AT	A	TXNRD2	c.591+18del	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19902719del	(Likely) benign	1 lab	ce733e63e4
6:32809887 PSMB8 A>G	6	32809887	32809887	A	G	PSMB8	c.537+24T>C	NM_148919.4	NP_683720.2:p.?	NC_000006.11:g.32809887A>G	(Likely) benign	1 lab	47c4c9d6ab
16:1500567 CLCN7 C>T	16	1500567	1500567	C	T	CLCN7	c.1548G>A	NM_001287.6	NP_001278.1:p.(Pro516=)	NC_000016.9:g.1500567C>T	(Likely) benign	1 lab	47d1eecd31
5:79027734 CMYA5 C>T	5	79027734	79027734	C	T	CMYA5	c.3146C>T	NM_153610.5	NP_705838.3:p.(Thr1049Ile)	NC_000005.9:g.79027734C>T	(Likely) benign	1 lab	47d2f48ad5
5:147491311 SPINK5 G>A	5	147491311	147491311	G	A	SPINK5	c.1693-20G>A	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147491311G>A	(Likely) benign	1 lab	47d7befde4
7:94248211 SGCE A>C	7	94248211	94248211	A	C	SGCE	c.521T>G	NM_003919.3	NP_003910.1:p.(Met174Arg)	NC_000007.13:g.94248211A>C	VUS	1 lab	ce785ddf5a
14:23874302 MYH6 C>T	14	23874302	23874302	C	T	MYH6	c.530+7G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23874302C>T	(Likely) benign	1 lab	47e99ba2f2
7:91652302 AKAP9 G>C	7	91652302	91652302	G	C	AKAP9	c.4127G>C	NM_005751.4	NP_005742.4:p.(Ser1376Thr)	NC_000007.13:g.91652302G>C	(Likely) benign	1 lab	47efb62080
15:77320875 PSTPIP1 A>G	15	77320875	77320875	A	G	PSTPIP1	c.418-20A>G	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77320875A>G	(Likely) benign	1 lab	47fb0aba4b
X:153581299 FLNA G>A	X	153581299	153581299	G	A	FLNA	c.6227-7C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153581299G>A	(Likely) benign	1 lab	480044077e
19:6718315 C3 G>A	19	6718315	6718315	G	A	C3	c.376C>T	NM_000064.2	NP_000055.2:p.(Gln126Ter)	NC_000019.9:g.6718315G>A	(Likely) pathogenic	1 lab	480182a4b7
12:110720506 ATP2A2 T>C	12	110720506	110720506	T	C	ATP2A2	c.137-12T>C	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110720506T>C	(Likely) benign	1 lab	4804d547b3
20:17950514 MGME1 G>C	20	17950514	17950514	G	C	MGME1	c.12G>C	NM_052865.4	NP_443097.1:p.(Lys4Asn)	NC_000020.10:g.17950514G>C	VUS	1 lab	ce7b79e796
16:23640962 PALB2 T>G	16	23640962	23640962	T	G	PALB2	c.2513A>C	NM_024675.4	NP_078951.2:p.(Gln838Pro)	NC_000016.9:g.23640962T>G	VUS	1 lab	ce7ea04ccd
11:101375435 TRPC6 T>TAAACATGTATGC	11	101375435	101375447	T	TAAACATGTATGC	TRPC6	c.253_264dup	NM_004621.6	NP_004612.2:p.(Ala85_Phe88dup)	NC_000011.9:g.101375436_101375447dup	(Likely) benign	1 lab	480e13b0d1
1:160090562 ATP1A2 C>T	1	160090562	160090562	C	T	ATP1A2				NC_000001.10:g.160090562C>T	(Likely) benign	1 lab	480fc33961
10:21157621 NEBL G>T	10	21157621	21157621	G	T	NEBL	c.656C>A	NM_006393.2	NP_006384.1:p.(Ala219Asp)	NC_000010.10:g.21157621G>T	(Likely) benign	1 lab	4810004174
9:139264339 CARD9 G>A	9	139264339	139264339	G	A	CARD9	c.952-12C>T	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139264339G>A	(Likely) benign	1 lab	481097d951
11:64577205 MEN1 C>T	11	64577205	64577205	C	T	MEN1	c.377G>A	NM_000244.3	NP_000235.2:p.(Trp126Ter)	NC_000011.9:g.64577205C>T	(Likely) pathogenic	1 lab	4811821503
10:95993763 PLCE1 C>T	10	95993763	95993763	C	T	PLCE1	c.1956-48C>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.95993763C>T	(Likely) benign	1 lab	481511f40b
3:195799002 TFRC A>G	3	195799002	195799002	A	G	TFRC	c.456T>C	NM_003234.4	NP_003225.2:p.(Tyr152=)	NC_000003.11:g.195799002A>G	(Likely) benign	1 lab	48177cc7ce
13:39450520 FREM2 G>T	13	39450520	39450520	G	T	FREM2	c.8544+1G>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39450520G>T	(Likely) pathogenic	1 lab	48232197d7
1:1147446 TNFRSF4 G>A	1	1147446	1147446	G	A	TNFRSF4	c.510C>T	NM_003327.4	NP_003318.1:p.(Asp170=)	NC_000001.10:g.1147446G>A	(Likely) benign	1 lab	482ee659b6
X:76920164 ATRX T>G	X	76920164	76920164	T	G	ATRX	c.3913A>C	NM_000489.5	NP_000480.3:p.(Lys1305Gln)	NC_000023.10:g.76920164T>G	(Likely) benign	1 lab	4833694cb3
10:21178818 NEBL G>T	10	21178818	21178818	G	T	NEBL	c.214C>A	NM_006393.2	NP_006384.1:p.(Pro72Thr)	NC_000010.10:g.21178818G>T	VUS	1 lab	48355a2c8a
17:14095639 COX10 A>G	17	14095639	14095639	A	G	COX10	c.928+101A>G	NM_001303.4	NP_001294.2:p.?	NC_000017.10:g.14095639A>G	(Likely) benign	1 lab	483917001d
17:45331267 ITGB3 G>A	17	45331267	45331267	G	A	ITGB3	c.40G>A	NM_000212.2	NP_000203.2:p.(Val14Met)	NC_000017.10:g.45331267G>A	(Likely) benign	1 lab	4839a6e2cc
11:93540724 MED17 C>T	11	93540724	93540724	C	T	MED17	c.1507C>T	NM_004268.5	NP_004259.3:p.(Arg503Ter)	NC_000011.9:g.93540724C>T	(Likely) pathogenic	1 lab	483cc50f19
12:66856778 GRIP1 T>C	12	66856778	66856778	T	C	GRIP1	c.968A>G	NM_021150.4	NP_066973.2:p.(Asn323Ser)	NC_000012.11:g.66856778T>C	VUS	1 lab	483fab3bf3
3:38663981 SCN5A G>C	3	38663981	38663981	G	C	SCN5A	c.393-1C>G	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38663981G>C	VUS	1 lab	4d6ed9c14a
15:89805046 FANCI T>G	15	89805046	89805046	T	G	FANCI	c.446-6T>G	NM_001113378.1	NP_001106849.1:p.?	NC_000015.9:g.89805046T>G	(Likely) benign	1 lab	484acb28ae
17:48271372 COL1A1 G>A	17	48271372	48271372	G	A	COL1A1	c.1699C>T	NM_000088.3	NP_000079.2:p.(Pro567Ser)	NC_000017.10:g.48271372G>A	VUS	1 lab	484b5aeb83
1:155735314 GON4L G>C	1	155735314	155735314	G	C	GON4L	c.3950C>G	NM_001282860.2	NP_001269789.1:p.(Thr1317Ser)	NC_000001.10:g.155735314G>C	VUS	1 lab	48516027f1
2:227887334 COL4A4 A>T	2	227887334	227887334	A	T	COL4A4	c.4091-445T>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227887334A>T	(Likely) benign	1 lab	4853c5e9b2
19:12768968 MAN2B1 G>A	19	12768968	12768968	G	A	MAN2B1	c.1231-13C>T	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12768968G>A	(Likely) benign	1 lab	4854199617
6:33661303 ITPR3 C>G	6	33661303	33661303	C	G	ITPR3	c.7625-19C>G	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33661303C>G	(Likely) benign	1 lab	4855470183
12:22040786 ABCC9 C>G	12	22040786	22040786	C	G	ABCC9	c.1885G>C	NM_020297.2	NP_064693.2:p.(Glu629Gln)	NC_000012.11:g.22040786C>G	VUS	1 lab	48559416b2
10:97200948 SORBS1 AC>A	10	97200948	97200949	AC	A	SORBS1	c.-45-12del	NM_001034954.3	NP_001030126.2:p.?	NC_000010.10:g.97200949del	(Likely) benign	1 lab	48569f4344
8:68423653 CPA6 A>AT	8	68423653	68423654	A	AT	CPA6	c.432+122dup	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68423654dup	(Likely) benign	1 lab	4856b55680
16:81929407 PLCG2 T>C	16	81929407	81929407	T	C	PLCG2	c.1073-5T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81929407T>C	(Likely) benign	1 lab	48592adf19
8:133146778 KCNQ3 A>T	8	133146778	133146778	A	T	KCNQ3	c.1701-143T>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146778A>T	(Likely) benign	1 lab	485b8de2f3
1:16372283 CLCNKB T>G	1	16372283	16372283	T	G	CLCNKB	c.229+102T>G	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16372283T>G	(Likely) benign	1 lab	4865bcad36
2:227964390 COL4A4 G>A	2	227964390	227964390	G	A	COL4A4	c.1045C>T	NM_000092.4	NP_000083.3:p.(Arg349Ter)	NC_000002.11:g.227964390G>A	(Likely) pathogenic	1 lab	48687f21b4
16:2156954 PKD1 C>T	16	2156954	2156954	C	T	PKD1	c.7066-5G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156954C>T	(Likely) benign	1 lab	48694f964b
X:135067809 SLC9A6 G>T	X	135067809	135067809	G	T	SLC9A6	c.148G>T	NM_001042537.1	NP_001036002.1:p.(Ala50Ser)	NC_000023.10:g.135067809G>T	(Likely) benign	1 lab	486bdcdb1e
8:100832520 VPS13B CT>C	8	100832520	100832530	CT	C	VPS13B	c.8994+180del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100832530del	(Likely) benign	1 lab	486d5a26cf
9:138649235 KCNT1 G>A	9	138649235	138649235	G	A	KCNT1	c.759+8G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138649235G>A	(Likely) benign	1 lab	486fb00ad2
16:89348559 ANKRD11 TTC>T	16	89348559	89348568	TTC	T	ANKRD11	c.4389_4390del	NM_001256182.2	NP_001243111.1:p.(Lys1464ThrfsTer89)	NC_000016.9:g.89348567_89348568del	(Likely) pathogenic	1 lab	ce86c723bf
1:116287487 CASQ2 A>G	1	116287487	116287487	A	G	CASQ2	c.281T>C	NM_001232.3	NP_001223.2:p.(Val94Ala)	NC_000001.10:g.116287487A>G	VUS	1 lab	487949ff23
16:20359619 UMOD C>T	16	20359619	20359619	C	T	UMOD	c.899G>A	NM_003361.3	NP_003352.2:p.(Cys300Tyr)	NC_000016.9:g.20359619C>T	(Likely) pathogenic	1 lab	487cf13b05
12:103237560 PAH G>A	12	103237560	103237560	G	A	PAH	c.1066-3C>T	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103237560G>A	(Likely) pathogenic	1 lab	487e160342
X:110988002 ALG13 T>A	X	110988002	110988002	T	A	ALG13	c.2802T>A	NM_001099922.3	NP_001093392.1:p.(Pro934=)	NC_000023.10:g.110988002T>A	(Likely) benign	1 lab	48857b065c
17:6526201 KIAA0753 C>T	17	6526201	6526201	C	T	KIAA0753	c.1104+1G>A	NM_014804.3	NP_055619.2:p.?	NC_000017.10:g.6526201C>T	VUS	1 lab	492868c90a
17:73752789 ITGB4 C>G	17	73752789	73752789	C	G	ITGB4	c.4902C>G	NM_000213.5	NP_000204.3:p.(Ser1634=)	NC_000017.10:g.73752789C>G	(Likely) benign	1 lab	488599b217
2:166773941 TTC21B T>C	2	166773941	166773941	T	C	TTC21B	c.1725A>G	NM_024753.5	NP_079029.3:p.(Lys575=)	NC_000002.11:g.166773941T>C	(Likely) benign	1 lab	489035fba9
1:36931973 CSF3R C>T	1	36931973	36931973	C	T	CSF3R	c.2496G>A	NM_000760.4	NP_000751.1:p.(Ala832=)	NC_000001.10:g.36931973C>T	(Likely) benign	1 lab	4893879de2
20:61978233 CHRNA4 G>A	20	61978233	61978233	G	A	CHRNA4	c.1759-18C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61978233G>A	(Likely) benign	1 lab	4894af2469
20:30409401 MYLK2 C>T	20	30409401	30409401	C	T	MYLK2	c.633C>T	NM_033118.3	NP_149109.1:p.(Thr211=)	NC_000020.10:g.30409401C>T	(Likely) benign	1 lab	4895741321
22:26849298 HPS4 T>C	22	26849298	26849298	T	C	HPS4	c.2028A>G	NM_022081.5	NP_071364.4:p.(Ala676=)	NC_000022.10:g.26849298T>C	(Likely) benign	1 lab	48993d6864
21:38858734 DYRK1A T>A	21	38858734	38858734	T	A	DYRK1A	c.517-35T>A	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38858734T>A	(Likely) benign	1 lab	489ba330ce
12:46240639 ARID2 C>G	12	46240639	46240639	C	G	ARID2	c.1499C>G	NM_152641.4	NP_689854.2:p.(Ala500Gly)	NC_000012.11:g.46240639C>G	(Likely) benign	1 lab	ce8b139828
1:235597606 TBCE C>T	1	235597606	235597606	C	T	TBCE	c.737+11C>T	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235597606C>T	(Likely) benign	1 lab	48a17b5d74
17:73728072 ITGB4 A>T	17	73728072	73728072	A	T	ITGB4	c.1377+18A>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73728072A>T	(Likely) benign	1 lab	48a4bf9b18
3:39228081 XIRP1 C>T	3	39228081	39228081	C	T	XIRP1	c.2856G>A	NM_194293.4	NP_919269.2:p.(Pro952=)	NC_000003.11:g.39228081C>T	(Likely) benign	1 lab	48a7b30a28
3:58088001 FLNB A>C	3	58088001	58088001	A	C	FLNB	c.1417A>C	NM_001457.4	NP_001448.2:p.(Thr473Pro)	NC_000003.11:g.58088001A>C	VUS	1 lab	ce8e296a77
9:136297633 ADAMTS13 G>A	9	136297633	136297633	G	A	ADAMTS13	c.988-76G>A	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136297633G>A	(Likely) benign	1 lab	48ac2ca2c1
5:35876524 IL7R C>G	5	35876524	35876524	C	G	IL7R				NC_000005.9:g.35876524C>G	(Likely) benign	1 lab	48b0fc734f
3:30732996 TGFBR2 C>T	3	30732996	30732996	C	T	TGFBR2	c.1684C>T	NM_001024847.2	NP_001020018.1:p.(Arg562Cys)	NC_000003.11:g.30732996C>T	(Likely) pathogenic	1 lab	48be8e898d
16:81991638 PLCG2 T>C	16	81991638	81991638	T	C	PLCG2	c.*35T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81991638T>C	(Likely) benign	1 lab	48bee5f115
1:154573960 ADAR G>A	1	154573960	154573960	G	A	ADAR	c.1158C>T	NM_001111.5	NP_001102.3:p.(Asn386=)	NC_000001.10:g.154573960G>A	(Likely) benign	1 lab	48beeddfc0
17:15142929 PMP22 C>T	17	15142929	15142929	C	T	PMP22	c.179-1G>A	NM_000304.2	NP_000295.1:p.?	NC_000017.10:g.15142929C>T	(Likely) pathogenic	1 lab	48bf169d0c
9:138677192 KCNT1 G>A	9	138677192	138677192	G	A	KCNT1	c.3177+16G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677192G>A	(Likely) benign	1 lab	48c1fb696a
12:58207946 AVIL C>T	12	58207946	58207946	C	T	AVIL	c.130G>A	NM_006576.3	NP_006567.3:p.(Val44Ile)	NC_000012.11:g.58207946C>T	(Likely) benign	1 lab	48ccb7af3a
4:149041303 NR3C2 A>G	4	149041303	149041303	A	G	NR3C2	c.2641+6T>C	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149041303A>G	(Likely) benign	1 lab	48ce90d1c5
21:47551833 COL6A2 C>T	21	47551833	47551833	C	T	COL6A2	c.2462-35C>T	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47551833C>T	(Likely) benign	1 lab	48ceb570da
13:73366703 PIBF1 T>A	13	73366703	73366703	T	A	PIBF1	c.353+18T>A	NM_006346.3	NP_006337.2:p.?	NC_000013.10:g.73366703T>A	(Likely) benign	1 lab	48ced5970e
3:10276185 IRAK2 C>G	3	10276185	10276185	C	G	IRAK2	c.1315C>G	NM_001570.4	NP_001561.3:p.(Leu439Val)	NC_000003.11:g.10276185C>G	(Likely) benign	1 lab	48d171f2fe
17:57119179 TRIM37 G>T	17	57119179	57119179	G	T	TRIM37	c.1748C>A	NM_015294.6	NP_056109.1:p.(Pro583His)	NC_000017.10:g.57119179G>T	(Likely) benign	1 lab	48d2c36e02
2:109365502 RANBP2 A>G	2	109365502	109365502	A	G	RANBP2	c.1190A>G	NM_006267.4	NP_006258.3:p.(Asp397Gly)	NC_000002.11:g.109365502A>G	(Likely) benign	1 lab	48d4025616
8:41585508 ANK1 A>G	8	41585508	41585508	A	G	ANK1	c.344T>C	NM_001142446.2	NP_001135918.1:p.(Leu115Pro)	NC_000008.10:g.41585508A>G	(Likely) pathogenic	1 lab	48d62ef8a1
4:79385632 FRAS1 C>T	4	79385632	79385632	C	T	FRAS1	c.6924C>T	NM_025074.7	NP_079350.5:p.(Val2308=)	NC_000004.11:g.79385632C>T	(Likely) benign	1 lab	48d84e1b51
16:3293382 MEFV G>C	16	3293382	3293382	G	C	MEFV	c.2105C>G	NM_000243.2	NP_000234.1:p.(Ser702Cys)	NC_000016.9:g.3293382G>C	VUS	1 lab	49e90617fe
9:131388977 SPTAN1 C>G	9	131388977	131388977	C	G	SPTAN1	c.6576+11C>G	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131388977C>G	(Likely) benign	1 lab	48d9934ee9
2:179664276 TTN C>T	2	179664276	179664276	C	T	TTN	c.852G>A	NM_001267550.1	NP_001254479.1:p.(Ser284=)	NC_000002.11:g.179664276C>T	(Likely) benign	1 lab	48e2c6e497
1:161479732 FCGR2A C>A	1	161479732	161479732	C	A	FCGR2A	c.484C>A	NM_021642.5	NP_067674.2:p.(Gln162Lys)	NC_000001.10:g.161479732C>A	(Likely) benign	1 lab	48e2d4beff
17:61557901 ACE G>A	17	61557901	61557901	G	A	ACE	c.847+12G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61557901G>A	(Likely) benign	1 lab	48e2e989dd
3:38628873 SCN5A G>C	3	38628873	38628873	G	C	SCN5A	c.2436+18C>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38628873G>C	(Likely) benign	1 lab	48e6f19e99
2:179475880 TTN GC>G	2	179475880	179475882	GC	G	TTN	c.50975del	NM_001267550.2	NP_001254479.2:p.(Gly16992AlafsTer10)	NC_000002.11:g.179475882del	(Likely) pathogenic	1 lab	ce8ea53e1b
13:32914663 BRCA2 A>G	13	32914663	32914663	A	G	BRCA2	c.6171A>G	NM_000059.3	NP_000050.2:p.(Gly2057=)	NC_000013.10:g.32914663A>G	(Likely) benign	1 lab	48ec2711a9
6:33650411 ITPR3 C>T	6	33650411	33650411	C	T	ITPR3	c.4587C>T	NM_002224.3	NP_002215.2:p.(Leu1529=)	NC_000006.11:g.33650411C>T	(Likely) benign	1 lab	48ed6aa44c
15:31212872 FAN1 C>G	15	31212872	31212872	C	G	FAN1	c.2052+16C>G	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31212872C>G	(Likely) benign	1 lab	48ef2055c0
12:76740353 BBS10 T>A	12	76740353	76740353	T	A	BBS10	c.1412A>T	NM_024685.4	NP_078961.3:p.(Asp471Val)	NC_000012.11:g.76740353T>A	(Likely) benign	1 lab	48f11fa8f1
9:131361228 SPTAN1 C>G	9	131361228	131361228	C	G	SPTAN1	c.3520-14C>G	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131361228C>G	(Likely) benign	1 lab	48f1e48f0d
6:51712781 PKHD1 G>A	6	51712781	51712781	G	A	PKHD1	c.7912-13C>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51712781G>A	(Likely) benign	1 lab	48f3aae215
4:186425689 PDLIM3 T>C	4	186425689	186425689	T	C	PDLIM3	c.845A>G	NM_014476.6	NP_055291.2:p.(His282Arg)	NC_000004.11:g.186425689T>C	(Likely) benign	1 lab	48f64e3905
14:65236536 SPTB C>A	14	65236536	65236536	C	A	SPTB	c.5799-90G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65236536C>A	(Likely) benign	1 lab	4900a547f0
14:91806245 CCDC88C G>A	14	91806245	91806245	G	A	CCDC88C	c.607C>T	NM_001080414.4	NP_001073883.2:p.(Arg203Trp)	NC_000014.8:g.91806245G>A	VUS	1 lab	49020a2464
15:93489283 CHD2 C>T	15	93489283	93489283	C	T	CHD2	c.1214C>T	NM_001271.4	NP_001262.3:p.(Pro405Leu)	NC_000015.9:g.93489283C>T	(Likely) benign	1 lab	ce91253008
6:7577207 DSP A>G	6	7577207	7577207	A	G	DSP	c.2809A>G	NM_004415.2	NP_004406.2:p.(Ile937Val)	NC_000006.11:g.7577207A>G	(Likely) benign	1 lab	4907c44fc2
22:32164720 DEPDC5 A>G	22	32164720	32164720	A	G	DEPDC5	c.364-80A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32164720A>G	(Likely) benign	1 lab	490d2a5433
16:1270205 CACNA1H C>T	16	1270205	1270205	C	T	CACNA1H	c.6273C>T	NM_021098.3	NP_066921.2:p.(Ala2091=)	NC_000016.9:g.1270205C>T	(Likely) benign	1 lab	491b480944
3:37067242 MLH1 C>T	3	37067242	37067242	C	T	MLH1	c.1153C>T	NM_000249.4	NP_000240.1:p.(Arg385Cys)	NC_000003.11:g.37067242C>T	VUS	1 lab	cea0829c72
22:18633004 USP18 C>T	22	18633004	18633004	C	T	USP18	c.-107+15C>T	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18633004C>T	(Likely) benign	1 lab	491c35bacc
1:235577756 TBCE C>A	1	235577756	235577756	C	A	TBCE	c.194C>A	NM_001079515.2	NP_001072983.1:p.(Thr65Lys)	NC_000001.10:g.235577756C>A	(Likely) benign	1 lab	491de12a16
4:86950594 MAPK10 G>A	4	86950594	86950594	G	A	MAPK10	c.1175-167C>T	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.86950594G>A	(Likely) benign	1 lab	491ed821ff
15:77321962 PSTPIP1 G>A	15	77321962	77321962	G	A	PSTPIP1	c.562+47G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77321962G>A	(Likely) benign	1 lab	491ee2ff13
16:31201082 FUS C>G	16	31201082	31201082	C	G	FUS	c.1033C>G	NM_004960.3	NP_004951.1:p.(Pro345Ala)	NC_000016.9:g.31201082C>G	VUS	1 lab	491f9ac247
1:62733957 KANK4 AC>A	1	62733957	62733959	AC	A	KANK4	c.2231+1del	NM_181712.5	NP_859063.3:p.?	NC_000001.10:g.62733959del	(Likely) benign	1 lab	492913d47a
13:43148617 TNFSF11 G>GT	13	43148617	43148619	G	GT	TNFSF11	c.180dup	NM_003701.4	NP_003692.1:p.(Val61CysfsTer17)	NC_000013.10:g.43148619dup	(Likely) pathogenic	1 lab	4929be51b0
X:154091400 F8 G>A	X	154091400	154091400	G	A	F8	c.6532C>T	NM_000132.3	NP_000123.1:p.(Arg2178Cys)	NC_000023.10:g.154091400G>A	(Likely) pathogenic	1 lab	492db84675
12:6443046 TNFRSF1A G>A	12	6443046	6443046	G	A	TNFRSF1A	c.194-15C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6443046G>A	(Likely) benign	1 lab	492f3e5b7b
4:151604878 LRBA GA>G	4	151604878	151604887	GA	G	LRBA	c.5755-10del	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151604887del	(Likely) benign	1 lab	4937cfda21
1:207653376 CR2 G>A	1	207653376	207653376	G	A	CR2	c.3166G>A	NM_001006658.2	NP_001006659.1:p.(Val1056Met)	NC_000001.10:g.207653376G>A	(Likely) benign	1 lab	49380f7f14
16:81939021 PLCG2 G>A	16	81939021	81939021	G	A	PLCG2	c.1376G>A	NM_002661.3	NP_002652.2:p.(Gly459Asp)	NC_000016.9:g.81939021G>A	(Likely) benign	1 lab	4939f2f243
5:177576825 NHP2 G>A	5	177576825	177576825	G	A	NHP2	c.351C>T	NM_017838.3	NP_060308.1:p.(Ala117=)	NC_000005.9:g.177576825G>A	(Likely) benign	1 lab	493df85922
2:228154757 COL4A3 C>A	2	228154757	228154757	C	A	COL4A3	c.3023C>A	NM_000091.4	NP_000082.2:p.(Pro1008Gln)	NC_000002.11:g.228154757C>A	VUS	1 lab	49465013f2
10:21178852 NEBL C>G	10	21178852	21178852	C	G	NEBL	c.180G>C	NM_006393.2	NP_006384.1:p.(Lys60Asn)	NC_000010.10:g.21178852C>G	(Likely) benign	1 lab	494907bb45
10:88441431 LDB3 C>T	10	88441431	88441431	C	T	LDB3	c.560C>T	NM_001171610.2	NP_001165081.1:p.(Pro187Leu)	NC_000010.10:g.88441431C>T	(Likely) benign	1 lab	49490d296e
20:30414482 MYLK2 C>T	20	30414482	30414482	C	T	MYLK2	c.1047C>T	NM_033118.3	NP_149109.1:p.(Ile349=)	NC_000020.10:g.30414482C>T	(Likely) benign	1 lab	494b9d16d1
4:10089905 WDR1 G>A	4	10089905	10089905	G	A	WDR1	c.717+12C>T	NM_017491.5	NP_059830.1:p.?	NC_000004.11:g.10089905G>A	(Likely) benign	1 lab	494bb0a7ce
9:14801892 FREM1 A>G	9	14801892	14801892	A	G	FREM1	c.3472-20T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14801892A>G	(Likely) benign	1 lab	4951708078
6:152652611 SYNE1 C>T	6	152652611	152652611	C	T	SYNE1	c.13209G>A	NM_182961.4	NP_892006.3:p.(Ser4403=)	NC_000006.11:g.152652611C>T	(Likely) benign	1 lab	495702a6cb
1:228467801 OBSCN G>A	1	228467801	228467801	G	A	OBSCN	c.8950+13G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228467801G>A	(Likely) benign	1 lab	495932af58
3:136002674 PCCB G>C	3	136002674	136002674	G	C	PCCB	c.544-5G>C	NM_000532.5	NP_000523.2:p.?	NC_000003.11:g.136002674G>C	(Likely) benign	1 lab	495c966151
5:1279437 TERT T>C	5	1279437	1279437	T	C	TERT	c.2099A>G	NM_198253.2	NP_937983.2:p.(Gln700Arg)	NC_000005.9:g.1279437T>C	(Likely) benign	1 lab	4961422579
10:97154424 SORBS1 T>C	10	97154424	97154424	T	C	SORBS1				NC_000010.10:g.97154424T>C	(Likely) benign	1 lab	4963f49dfe
X:122536807 GRIA3 G>A	X	122536807	122536807	G	A	GRIA3	c.1081-38G>A	NM_000828.4	NP_000819.3:p.?	NC_000023.10:g.122536807G>A	(Likely) benign	1 lab	49646ad4f7
11:1775386 CTSD G>A	11	1775386	1775386	G	A	CTSD	c.828-18C>T	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1775386G>A	(Likely) benign	1 lab	4964760cd3
7:83035289 SEMA3E A>G	7	83035289	83035289	A	G	SEMA3E	c.900T>C	NM_012431.3	NP_036563.1:p.(Asn300=)	NC_000007.13:g.83035289A>G	(Likely) benign	1 lab	496a9c8f94
4:20525814 SLIT2 G>A	4	20525814	20525814	G	A	SLIT2	c.1438+14G>A	NM_004787.4	NP_004778.1:p.?	NC_000004.11:g.20525814G>A	(Likely) benign	1 lab	496c5245c2
4:149363302 NR3C2 C>T	4	149363302	149363302	C	T	NR3C2	c.-3+10G>A	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149363302C>T	(Likely) benign	1 lab	496cd71adc
1:207532938 CD55 A>G	1	207532938	207532938	A	G	CD55	c.1129A>G	NM_000574.3	NP_000565.1:p.(Met377Val)	NC_000001.10:g.207532938A>G	(Likely) benign	1 lab	496ce1701b
17:27061843 NEK8 G>A	17	27061843	27061843	G	A	NEK8	c.307G>A	NM_178170.3	NP_835464.1:p.(Glu103Lys)	NC_000017.10:g.27061843G>A	(Likely) benign	1 lab	497232167c
16:1263775 CACNA1H C>T	16	1263775	1263775	C	T	CACNA1H	c.4778-5C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1263775C>T	(Likely) benign	1 lab	4a42e2927b
5:138861257 STING1 C>T	5	138861257	138861257	C	T	STING1	c.33G>A	NM_198282.4	NP_938023.1:p.(Pro11=)	NC_000005.9:g.138861257C>T	(Likely) benign	1 lab	497497d5fa
20:60906105 LAMA5 G>A	20	60906105	60906105	G	A	LAMA5	c.3633C>T	NM_005560.4	NP_005551.3:p.(Gly1211=)	NC_000020.10:g.60906105G>A	(Likely) benign	1 lab	497881838e
19:50826806 KCNC3 G>A	19	50826806	50826806	G	A	KCNC3	c.1404C>T	NM_004977.3	NP_004968.2:p.(Tyr468=)	NC_000019.9:g.50826806G>A	(Likely) benign	1 lab	497bf57094
16:89599241 SPG7 C>T	16	89599241	89599241	C	T	SPG7	c.1324+197C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89599241C>T	(Likely) benign	1 lab	497ed0012b
7:147674990 CNTNAP2 C>T	7	147674990	147674990	C	T	CNTNAP2	c.2292C>T	NM_014141.6	NP_054860.1:p.(His764=)	NC_000007.13:g.147674990C>T	(Likely) benign	1 lab	497f88d8ad
2:220494112 SLC4A3 C>G	2	220494112	220494112	C	G	SLC4A3	c.464C>G	NM_201574.2	NP_963868.2:p.(Pro155Arg)	NC_000002.11:g.220494112C>G	(Likely) benign	1 lab	49835a9c5b
8:17924613 ASAH1 C>CTTTG	8	17924613	17924614	C	CTTTG	ASAH1	c.430+115_430+116insCAAA	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17924613_17924614insTTTG	(Likely) benign	1 lab	498dc60db4
9:139264900 CARD9 C>A	9	139264900	139264900	C	A	CARD9	c.808-11G>T	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139264900C>A	(Likely) benign	1 lab	4992154143
8:68536551 CPA6 CT>C	8	68536551	68536553	CT	C	CPA6	c.117-66del	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68536553del	(Likely) benign	1 lab	4997c7861f
12:6443305 TNFRSF1A A>C	12	6443305	6443305	A	C	TNFRSF1A	c.145T>G	NM_001065.3	NP_001056.1:p.(Tyr49Asp)	NC_000012.11:g.6443305A>C	(Likely) pathogenic	1 lab	499d1fdff2
19:1627365 TCF3 A>G	19	1627365	1627365	A	G	TCF3	c.359T>C	NM_003200.5	NP_003191.1:p.(Leu120Pro)	NC_000019.9:g.1627365A>G	(Likely) benign	1 lab	499e0cab87
17:12656076 MYOCD G>A	17	12656076	12656076	G	A	MYOCD	c.1471G>A	NM_001146312.2	NP_001139784.1:p.(Val491Met)	NC_000017.10:g.12656076G>A	(Likely) benign	1 lab	499fab82c8
X:154194340 F8 A>T	X	154194340	154194340	A	T	F8	c.1348T>A	NM_000132.3	NP_000123.1:p.(Tyr450Asn)	NC_000023.10:g.154194340A>T	VUS	1 lab	499fcda66f
15:93496815 CHD2 A>G	15	93496815	93496815	A	G	CHD2	c.1719+12A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93496815A>G	(Likely) benign	1 lab	49a6258ee2
1:158647312 SPTA1 A>G	1	158647312	158647312	A	G	SPTA1	c.957+168T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158647312A>G	(Likely) benign	1 lab	49a65e14a9
16:2164697 PKD1 TCCGTGGCTGCAAGCAG>T	16	2164697	2164716	TCCGTGGCTGCAAGCAG	T	PKD1	c.2311_2326del	NM_001009944.3	NP_001009944.3:p.(Leu771AsnfsTer9)	NC_000016.9:g.2164701_2164716del	(Likely) pathogenic	1 lab	49a6c1b4ff
9:14801738 FREM1 G>C	9	14801738	14801738	G	C	FREM1	c.3606C>G	NM_144966.5	NP_659403.4:p.(Ser1202Arg)	NC_000009.11:g.14801738G>C	(Likely) benign	1 lab	49a765fd84
10:90768701 FAS A>G	10	90768701	90768701	A	G	FAS	c.390A>G	NM_000043.4	NP_000034.1:p.(Lys130=)	NC_000010.10:g.90768701A>G	(Likely) benign	1 lab	49a7de7d58
12:41316243 CNTN1 T>C	12	41316243	41316243	T	C	CNTN1	c.400+13T>C	NM_001843.4	NP_001834.2:p.?	NC_000012.11:g.41316243T>C	(Likely) benign	1 lab	49ad63640a
7:77824130 MAGI2 A>G	7	77824130	77824130	A	G	MAGI2	c.2269+61T>C	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77824130A>G	(Likely) benign	1 lab	49bfe519be
12:110019222 MVK GT>G	12	110019222	110019223	GT	G	MVK	c.395del	NM_000431.4	NP_000422.1:p.(Val132GlufsTer27)	NC_000012.11:g.110019223del	(Likely) pathogenic	1 lab	49c099dc77
8:133146776 KCNQ3 G>A	8	133146776	133146776	G	A	KCNQ3	c.1701-141C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146776G>A	(Likely) benign	1 lab	49dec19d9c
2:227920724 COL4A4 C>T	2	227920724	227920724	C	T	COL4A4	c.2653G>A	NM_000092.4	NP_000083.3:p.(Gly885Ser)	NC_000002.11:g.227920724C>T	(Likely) pathogenic	1 lab	49c5db00b7
2:228162480 COL4A3 G>C	2	228162480	228162480	G	C	COL4A3	c.3656G>C	NM_000091.4	NP_000082.2:p.(Gly1219Ala)	NC_000002.11:g.228162480G>C	(Likely) pathogenic	1 lab	49c61aac88
2:228173960 COL4A3 C>T	2	228173960	228173960	C	T	COL4A3	c.4681C>T	NM_000091.4	NP_000082.2:p.(His1561Tyr)	NC_000002.11:g.228173960C>T	VUS	1 lab	49c83f64e5
16:29824602 PRRT2 C>T	16	29824602	29824602	C	T	PRRT2	c.227C>T	NM_145239.2	NP_660282.2:p.(Ala76Val)	NC_000016.9:g.29824602C>T	(Likely) benign	1 lab	49d75699d1
16:67470505 HSD11B2 G>A	16	67470505	67470505	G	A	HSD11B2	c.817G>A	NM_000196.4	NP_000187.3:p.(Val273Met)	NC_000016.9:g.67470505G>A	(Likely) benign	1 lab	49d792abec
20:60909112 LAMA5 C>G	20	60909112	60909112	C	G	LAMA5	c.2740-17G>C	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60909112C>G	(Likely) benign	1 lab	49da98eb6d
20:52779338 CYP24A1 C>G	20	52779338	52779338	C	G	CYP24A1	c.908G>C	NM_000782.5	NP_000773.2:p.(Cys303Ser)	NC_000020.10:g.52779338C>G	(Likely) benign	1 lab	49de7ebca1
19:42396452 ARHGEF1 G>A	19	42396452	42396452	G	A	ARHGEF1	c.412+8G>A	NM_199002.2	NP_945353.1:p.?	NC_000019.9:g.42396452G>A	(Likely) benign	1 lab	49e089ce7f
8:108276593 ANGPT1 G>GA	8	108276593	108276601	G	GA	ANGPT1	c.1206-15dup	NM_001146.5	NP_001137.2:p.?	NC_000008.10:g.108276601dup	(Likely) benign	1 lab	49e1806d88
22:36650106 APOL1 T>C	22	36650106	36650106	T	C	APOL1	c.29+69T>C	NM_145343.2	NP_663318.1:p.?	NC_000022.10:g.36650106T>C	(Likely) benign	1 lab	49e70545fd
16:81121101 GCSH CA>C	16	81121101	81121113	CA	C	GCSH	c.292+104del	NM_004483.5	NP_004474.2:p.?	NC_000016.9:g.81121113del	(Likely) benign	1 lab	49ebb55275
22:23915529 IGLL1 C>T	22	23915529	23915529	C	T	IGLL1				NC_000022.10:g.23915529C>T	(Likely) benign	1 lab	4cc500a3ab
21:35257792 ITSN1 T>C	21	35257792	35257792	T	C	ITSN1	c.4809T>C	NM_003024.3	NP_003015.2:p.(Val1603=)	NC_000021.8:g.35257792T>C	(Likely) benign	1 lab	49efae70e1
5:90398074 ADGRV1 G>A	5	90398074	90398074	G	A	ADGRV1	c.18349G>A	NM_032119.4	NP_115495.3:p.(Val6117Met)	NC_000005.9:g.90398074G>A	(Likely) benign	1 lab	49efe79cd5
5:131007725 FNIP1 T>C	5	131007725	131007725	T	C	FNIP1	c.2412A>G	NM_133372.3	NP_588613.3:p.(Gln804=)	NC_000005.9:g.131007725T>C	(Likely) benign	1 lab	49f3cf60ca
12:21995374 ABCC9 C>T	12	21995374	21995374	C	T	ABCC9	c.3347G>A	NM_020297.2	NP_064693.2:p.(Arg1116His)	NC_000012.11:g.21995374C>T	(Likely) pathogenic	1 lab	49f51d728f
2:231042244 SP110 A>T	2	231042244	231042244	A	T	SP110	c.1590+10T>A	NM_004509.4	NP_004500.4:p.?	NC_000002.11:g.231042244A>T	(Likely) benign	1 lab	49f6d9fe8e
12:988824 WNK1 C>G	12	988824	988824	C	G	WNK1	c.2459C>G	NM_018979.4	NP_061852.3:p.(Ser820Cys)	NC_000012.11:g.988824C>G	(Likely) benign	1 lab	49f79a593d
2:109370309 RANBP2 A>C	2	109370309	109370309	A	C	RANBP2	c.2084A>C	NM_006267.4	NP_006258.3:p.(Glu695Ala)	NC_000002.11:g.109370309A>C	(Likely) benign	1 lab	49fa03d1c7
10:96039710 PLCE1 T>C	10	96039710	96039710	T	C	PLCE1	c.4795+42T>C	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96039710T>C	(Likely) benign	1 lab	49fc3baebc
3:53766059 CACNA1D A>T	3	53766059	53766059	A	T	CACNA1D	c.2483A>T	NM_000720.4	NP_000711.1:p.(Tyr828Phe)	NC_000003.11:g.53766059A>T	(Likely) benign	1 lab	4a003f22b1
19:36336258 NPHS1 C>T	19	36336258	36336258	C	T	NPHS1	c.1930+12G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36336258C>T	(Likely) benign	1 lab	4a02a9139b
10:54053619 PRKG1 C>A	10	54053619	54053619	C	A	PRKG1	c.1975C>A	NM_001098512.3	NP_001091982.1:p.(Pro659Thr)	NC_000010.10:g.54053619C>A	VUS	1 lab	4a05ef38da
19:13339749 CACNA1A C>A	19	13339749	13339749	C	A	CACNA1A	c.5546+1147G>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13339749C>A	(Likely) benign	1 lab	4a065107ac
X:100630236 BTK G>A	X	100630236	100630236	G	A	BTK	c.37C>T	NM_000061.2	NP_000052.1:p.(Arg13Ter)	NC_000023.10:g.100630236G>A	(Likely) pathogenic	1 lab	4a07257cd2
19:36237625 PSENEN T>G	19	36237625	36237625	T	G	PSENEN	c.183T>G	NM_172341.4	NP_758844.1:p.(Ala61=)	NC_000019.9:g.36237625T>G	(Likely) benign	1 lab	4a09acd8be
17:41246661 BRCA1 C>G	17	41246661	41246661	C	G	BRCA1	c.887G>C	NM_007294.3	NP_009225.1:p.(Arg296Thr)	NC_000017.10:g.41246661C>G	VUS	1 lab	4a0d162fe8
10:104159494 NFKB2 G>A	10	104159494	104159494	G	A	NFKB2	c.1469+19G>A	NM_001077494.3	NP_001070962.1:p.?	NC_000010.10:g.104159494G>A	(Likely) benign	1 lab	4a0dfcc2ed
1:154548341 CHRNB2 C>T	1	154548341	154548341	C	T	CHRNB2	c.1442C>T	NM_000748.3	NP_000739.1:p.(Pro481Leu)	NC_000001.10:g.154548341C>T	(Likely) pathogenic	1 lab	4a0ef82981
X:153763557 G6PD C>T	X	153763557	153763557	C	T	G6PD	c.311G>A	NM_001042351.2	NP_001035810.1:p.(Arg104His)	NC_000023.10:g.153763557C>T	(Likely) benign	1 lab	4a1137c507
1:228564958 OBSCN T>C	1	228564958	228564958	T	C	OBSCN	c.26116T>C	NM_001271223.2	NP_001258152.2:p.(Ser8706Pro)	NC_000001.10:g.228564958T>C	(Likely) benign	1 lab	4a1414b251
2:73957738 TPRKB C>T	2	73957738	73957738	C	T	TPRKB	c.390G>A	NM_016058.5	NP_057142.1:p.(Gln130=)	NC_000002.11:g.73957738C>T	(Likely) benign	1 lab	4a15828644
1:16383305 CLCNKB GC>G	1	16383305	16383311	GC	G	CLCNKB	c.2017-53del	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16383311del	(Likely) benign	1 lab	4a15bd41af
X:153296827 MECP2 T>C	X	153296827	153296827	T	C	MECP2	c.452A>G	NM_004992.3	NP_004983.1:p.(Asp151Gly)	NC_000023.10:g.153296827T>C	(Likely) pathogenic	1 lab	4a184a1857
2:179484507 TTN G>C	2	179484507	179484507	G	C	TTN	c.46537C>G	NM_001267550.1	NP_001254479.1:p.(Leu15513Val)	NC_000002.11:g.179484507G>C	VUS	1 lab	4a203c487d
5:147820727 FBXO38 C>T	5	147820727	147820727	C	T	FBXO38	c.3090C>T	NM_030793.5	NP_110420.3:p.(Phe1030=)	NC_000005.9:g.147820727C>T	(Likely) benign	1 lab	4a20c210d6
2:170366972 KLHL41 A>C	2	170366972	170366972	A	C	KLHL41	c.684A>C	NM_006063.3	NP_006054.2:p.(Thr228=)	NC_000002.11:g.170366972A>C	(Likely) benign	1 lab	4a20e68836
5:89975282 ADGRV1 G>T	5	89975282	89975282	G	T	ADGRV1	c.5444-84G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975282G>T	(Likely) benign	1 lab	4a2130cee0
11:64504306 RASGRP2 A>G	11	64504306	64504306	A	G	RASGRP2	c.1014T>C	NM_153819.1	NP_722541.1:p.(Phe338=)	NC_000011.9:g.64504306A>G	(Likely) benign	1 lab	4a2215596d
17:41246703 BRCA1 G>A	17	41246703	41246703	G	A	BRCA1	c.845C>T	NM_007294.4	NP_009225.1:p.(Ser282Leu)	NC_000017.10:g.41246703G>A	VUS	1 lab	cea11ee19c
15:77328187 PSTPIP1 G>A	15	77328187	77328187	G	A	PSTPIP1	c.1030G>A	NM_003978.3	NP_003969.2:p.(Val344Ile)	NC_000015.9:g.77328187G>A	VUS	1 lab	4a25b49864
16:1250826 CACNA1H T>C	16	1250826	1250826	T	C	CACNA1H	c.1212+18T>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1250826T>C	(Likely) benign	1 lab	4a3380e55a
5:79031873 CMYA5 C>T	5	79031873	79031873	C	T	CMYA5	c.7285C>T	NM_153610.5	NP_705838.3:p.(Leu2429Phe)	NC_000005.9:g.79031873C>T	(Likely) benign	1 lab	4a360adfde
8:20062034 ATP6V1B2 T>C	8	20062034	20062034	T	C	ATP6V1B2	c.176T>C	NM_001693.4	NP_001684.2:p.(Ile59Thr)	NC_000008.10:g.20062034T>C	VUS	1 lab	cea43eb0ee
6:32800103 TAP2 C>T	6	32800103	32800103	C	T	TAP2	c.1272+7G>A	NM_000544.3	NP_000535.3:p.?	NC_000006.11:g.32800103C>T	(Likely) benign	1 lab	4a379e51f8
9:137715315 COL5A1 G>A	9	137715315	137715315	G	A	COL5A1	c.4698G>A	NM_000093.4	NP_000084.3:p.(Pro1566=)	NC_000009.11:g.137715315G>A	(Likely) benign	1 lab	4a3942f292
3:124114157 KALRN C>T	3	124114157	124114157	C	T	KALRN	c.2132C>T	NM_001024660.5	NP_001019831.2:p.(Ala711Val)	NC_000003.11:g.124114157C>T	VUS	1 lab	cea474d3ba
13:52518367 ATP7B G>A	13	52518367	52518367	G	A	ATP7B	c.3121C>T	NM_000053.4	NP_000044.2:p.(Arg1041Trp)	NC_000013.10:g.52518367G>A	(Likely) pathogenic	1 lab	4a3c3e2e01
19:55536595 GP6 G>A	19	55536595	55536595	G	A	GP6	c.655C>T	NM_001083899.2	NP_001077368.2:p.(Pro219Ser)	NC_000019.9:g.55536595G>A	(Likely) benign	1 lab	cea54de09f
8:11990522 USP17L7 C>T	8	11990522	11990522	C	T	USP17L7	c.997G>A	NM_001256869.2	NP_001243798.1:p.(Gly333Arg)	NC_000008.10:g.11990522C>T	(Likely) benign	1 lab	4a3fd09f56
9:123751832 C5 CT>C	9	123751832	123751843	CT	C	C5	c.3154+13del	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123751843del	(Likely) benign	1 lab	4a459cb3f4
5:161580091 GABRG2 C>T	5	161580091	161580091	C	T	GABRG2				NC_000005.9:g.161580091C>T	(Likely) benign	1 lab	4a4d72d6e4
12:110017606 MVK G>A	12	110017606	110017606	G	A	MVK	c.227-1G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017606G>A	(Likely) pathogenic	1 lab	4a4d8dd29b
16:1269070 CACNA1H C>T	16	1269070	1269070	C	T	CACNA1H	c.5988C>T	NM_021098.3	NP_066921.2:p.(His1996=)	NC_000016.9:g.1269070C>T	(Likely) benign	1 lab	4d9dcfa173
17:42340108 SLC4A1 C>T	17	42340108	42340108	C	T	SLC4A1	c.16-14G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42340108C>T	(Likely) benign	1 lab	4a4f50ecdf
2:166868783 SCN1A C>A	2	166868783	166868783	C	A	SCN1A	c.3715G>T	NM_001165963.3	NP_001159435.1:p.(Asp1239Tyr)	NC_000002.11:g.166868783C>A	(Likely) pathogenic	1 lab	4a55540eda
12:53454762 TNS2 C>T	12	53454762	53454762	C	T	TNS2	c.3102C>T	NM_015319.2	NP_056134.2:p.(Pro1034=)	NC_000012.11:g.53454762C>T	(Likely) benign	1 lab	4a578c3fdc
16:3293408 MEFV CATT>C	16	3293408	3293413	CATT	C	MEFV	c.2076_2078del	NM_000243.3	NP_000234.1:p.(Ile692del)	NC_000016.9:g.3293411_3293413del	(Likely) pathogenic	1 lab	4a5b538732
1:76205669 ACADM AT>A	1	76205669	76205671	AT	A	ACADM	c.475del	NM_000016.6	NP_000007.1:p.(Cys159ValfsTer2)	NC_000001.10:g.76205671del	(Likely) pathogenic	1 lab	4a5de933dc
1:11300415 MTOR G>A	1	11300415	11300415	G	A	MTOR	c.1731C>T	NM_004958.3	NP_004949.1:p.(Ser577=)	NC_000001.10:g.11300415G>A	(Likely) benign	1 lab	4a620a1202
2:179413367 TTN G>C	2	179413367	179413367	G	C	TTN	c.66166C>G	NM_133432.3	NP_597676.3:p.(Leu22056Val)	NC_000002.11:g.179413367G>C	VUS	1 lab	4a674cf62e
16:50745968 NOD2 C>T	16	50745968	50745968	C	T	NOD2	c.2146C>T	NM_022162.1	NP_071445.1:p.(Arg716Cys)	NC_000016.9:g.50745968C>T	(Likely) benign	1 lab	4a6e303c69
6:32025940 TNXB T>C	6	32025940	32025940	T	C	TNXB	c.7720A>G	NM_019105.8	NP_061978.6:p.(Lys2574Glu)	NC_000006.11:g.32025940T>C	(Likely) benign	1 lab	4a72c19f3a
11:47353656 MYBPC3 C>T	11	47353656	47353656	C	T	MYBPC3	c.3781G>A	NM_000256.3	NP_000247.2:p.(Glu1261Lys)	NC_000011.9:g.47353656C>T	(Likely) pathogenic	1 lab	4a73c28ffe
8:48740822 PRKDC T>C	8	48740822	48740822	T	C	PRKDC	c.8484A>G	NM_006904.6	NP_008835.5:p.(Glu2828=)	NC_000008.10:g.48740822T>C	VUS	1 lab	4a75a8d8df
2:179456363 TTN A>G	2	179456363	179456363	A	G	TTN	c.60183T>C	NM_001267550.1	NP_001254479.1:p.(Pro20061=)	NC_000002.11:g.179456363A>G	(Likely) benign	1 lab	4a777563c0
X:129263933 AIFM1 A>G	X	129263933	129263933	A	G	AIFM1	c.1770+12T>C	NM_004208.4	NP_004199.1:p.?	NC_000023.10:g.129263933A>G	(Likely) benign	1 lab	4a780d8403
1:160263172 COPA T>C	1	160263172	160263172	T	C	COPA	c.2754+4A>G	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160263172T>C	(Likely) benign	1 lab	4a7cbde602
1:196748972 CFHR3 A>G	1	196748972	196748972	A	G	CFHR3	c.299A>G	NM_021023.5	NP_066303.2:p.(Tyr100Cys)	NC_000001.10:g.196748972A>G	(Likely) benign	1 lab	4a8205c36a
18:56377203 MALT1 T>C	18	56377203	56377203	T	C	MALT1	c.829-5T>C	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56377203T>C	(Likely) benign	1 lab	4a89a5c8bf
16:89613037 SPG7 G>A	16	89613037	89613037	G	A	SPG7	c.1450-29G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89613037G>A	(Likely) benign	1 lab	4a8a837c01
7:30693081 CRHR2 C>T	7	30693081	30693081	C	T	CRHR2	c.1189G>A	NM_001202481.1	NP_001189410.1:p.(Val397Met)	NC_000007.13:g.30693081C>T	(Likely) benign	1 lab	4a8d6566ee
12:110032890 MVK C>G	12	110032890	110032890	C	G	MVK	c.943C>G	NM_000431.2	NP_000422.1:p.(Leu315Val)	NC_000012.11:g.110032890C>G	VUS	1 lab	4a8dbeda78
5:89977104 ADGRV1 T>C	5	89977104	89977104	T	C	ADGRV1	c.5525-28T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89977104T>C	(Likely) benign	1 lab	4a9125f572
6:7585679 DSP G>C	6	7585679	7585679	G	C	DSP	c.8184G>C	NM_004415.2	NP_004406.2:p.(Glu2728Asp)	NC_000006.11:g.7585679G>C	VUS	1 lab	4a942463fb
2:224642526 AP1S3 T>C	2	224642526	224642526	T	C	AP1S3	c.64A>G	NM_001039569.2	NP_001034658.1:p.(Thr22Ala)	NC_000002.11:g.224642526T>C	(Likely) benign	1 lab	4a9425571a
12:8667866 CLEC4D G>A	12	8667866	8667866	G	A	CLEC4D	c.63G>A	NM_080387.5	NP_525126.2:p.(Ser21=)	NC_000012.11:g.8667866G>A	(Likely) benign	1 lab	4a96820b4b
6:51908423 PKHD1 C>T	6	51908423	51908423	C	T	PKHD1	c.2821G>A	NM_138694.4	NP_619639.3:p.(Asp941Asn)	NC_000006.11:g.51908423C>T	(Likely) pathogenic	1 lab	4a977613fc
5:89970122 ADGRV1 A>C	5	89970122	89970122	A	C	ADGRV1	c.5110+71A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89970122A>C	(Likely) benign	1 lab	4a9c06197a
17:78079481 GAA C>G	17	78079481	78079481	C	G	GAA	c.547-67C>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079481C>G	(Likely) benign	1 lab	4a9d47638a
1:1961144 GABRD C>T	1	1961144	1961144	C	T	GABRD	c.1002C>T	NM_000815.5	NP_000806.2:p.(Asn334=)	NC_000001.10:g.1961144C>T	(Likely) benign	1 lab	4aa0b6cbec
11:20676287 SLC6A5 C>T	11	20676287	20676287	C	T	SLC6A5	c.2267C>T	NM_004211.5	NP_004202.4:p.(Pro756Leu)	NC_000011.9:g.20676287C>T	VUS	1 lab	ceaa072e90
10:94822756 CYP26C1 C>T	10	94822756	94822756	C	T	CYP26C1	c.705+4C>T	NM_183374.3	NP_899230.2:p.?	NC_000010.10:g.94822756C>T	(Likely) benign	1 lab	4aac3c2654
5:176814834 SLC34A1 G>A	5	176814834	176814834	G	A	SLC34A1	c.604G>A	NM_003052.5	NP_003043.3:p.(Val202Met)	NC_000005.9:g.176814834G>A	VUS	1 lab	4ab30e9df9
1:11090236 MASP2 GCTCAC>G	1	11090236	11090241	GCTCAC	G	MASP2	c.1289_1293del	NM_006610.4	NP_006601.2:p.(Cys430SerfsTer24)	NC_000001.10:g.11090237_11090241del	(Likely) pathogenic	1 lab	4ab4d5663c
7:36466571 ANLN C>T	7	36466571	36466571	C	T	ANLN	c.2817C>T	NM_018685.5	NP_061155.2:p.(Phe939=)	NC_000007.13:g.36466571C>T	(Likely) benign	1 lab	4ab887b4c8
2:152483498 NEB T>C	2	152483498	152483498	T	C	NEB	c.10347+18A>G	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152483498T>C	(Likely) benign	1 lab	4abbfb0c09
13:96212393 CLDN10 A>C	13	96212393	96212393	A	C	CLDN10	c.228A>C	NM_006984.5	NP_008915.1:p.(Ile76=)	NC_000013.10:g.96212393A>C	(Likely) benign	1 lab	4ad82f0d6f
17:75398578 SEPTIN9 G>A	17	75398578	75398578	G	A	SEPTIN9	c.460G>A	NM_006640.4	NP_006631.2:p.(Val154Ile)	NC_000017.10:g.75398578G>A	(Likely) benign	1 lab	4ac2d8cdec
3:30713144 TGFBR2 A>T	3	30713144	30713144	A	T	TGFBR2	c.544A>T	NM_001024847.2	NP_001020018.1:p.(Asn182Tyr)	NC_000003.11:g.30713144A>T	VUS	1 lab	4ac3b708c2
2:227912217 COL4A4 C>T	2	227912217	227912217	C	T	COL4A4	c.3263G>A	NM_000092.4	NP_000083.3:p.(Gly1088Asp)	NC_000002.11:g.227912217C>T	(Likely) pathogenic	1 lab	4ac4e0a193
3:39229882 XIRP1 C>T	3	39229882	39229882	C	T	XIRP1	c.1055G>A	NM_194293.4	NP_919269.2:p.(Arg352Gln)	NC_000003.11:g.39229882C>T	(Likely) benign	1 lab	4ac76f7922
11:64573709 MEN1 G>A	11	64573709	64573709	G	A	MEN1	c.1059C>T	NM_130803.2	NP_570715.1:p.(Ile353=)	NC_000011.9:g.64573709G>A	VUS	1 lab	4acccdb673
19:55451232 NLRP7 C>T	19	55451232	55451232	C	T	NLRP7	c.955G>A	NM_001127255.1	NP_001120727.1:p.(Val319Ile)	NC_000019.9:g.55451232C>T	(Likely) benign	1 lab	4ad0bbbfd9
16:75670447 KARS1 T>G	16	75670447	75670447	T	G	KARS1	c.473-2A>C	NM_001130089.1	NP_001123561.1:p.?	NC_000016.9:g.75670447T>G	(Likely) pathogenic	1 lab	4ad160bb2d
7:156798568 MNX1 C>T	7	156798568	156798568	C	T	MNX1	c.217-1G>A	NM_001165255.1	NP_001158727.1:p.?	NC_000007.13:g.156798568C>T	(Likely) pathogenic	1 lab	4ad34e1698
1:160109466 ATP1A2 G>A	1	160109466	160109466	G	A	ATP1A2				NC_000001.10:g.160109466G>A	(Likely) benign	1 lab	4ae4bb2ac0
4:79409997 FRAS1 T>C	4	79409997	79409997	T	C	FRAS1	c.8753-32T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79409997T>C	(Likely) benign	1 lab	4af523671e
2:179523738 TTN G>C	2	179523738	179523738	G	C	TTN	c.37447C>G	NM_001267550.1	NP_001254479.1:p.(Pro12483Ala)	NC_000002.11:g.179523738G>C	VUS	1 lab	4af6e6b817
4:88928804 PKD2 G>C	4	88928804	88928804	G	C	PKD2	c.-82G>C	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88928804G>C	(Likely) benign	1 lab	4af7be1bd6
6:112441535 LAMA4 T>A	6	112441535	112441535	T	A	LAMA4	c.4616A>T	NM_001105206.3	NP_001098676.2:p.(Lys1539Ile)	NC_000006.11:g.112441535T>A	VUS	1 lab	4af8a9c0e1
17:78175964 CARD14 G>A	17	78175964	78175964	G	A	CARD14	c.1979-15G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78175964G>A	(Likely) benign	1 lab	4af8e36800
2:179495797 TTN C>T	2	179495797	179495797	C	T	TTN	c.43978G>A	NM_001267550.1	NP_001254479.1:p.(Gly14660Arg)	NC_000002.11:g.179495797C>T	VUS	1 lab	4af9de9c23
X:128962961 ZDHHC9 C>T	X	128962961	128962961	C	T	ZDHHC9	c.324G>A	NM_001008222.3	NP_001008223.1:p.(Glu108=)	NC_000023.10:g.128962961C>T	(Likely) benign	1 lab	4afbe0601a
22:36688286 MYH9 C>G	22	36688286	36688286	C	G	MYH9	c.4096-6G>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36688286C>G	(Likely) benign	1 lab	4aff3235ce
13:115086561 CHAMP1 CTT>C	13	115086561	115086580	CTT	C	CHAMP1	c.-178-6_-178-5del	NM_032436.4	NP_115812.1:p.?	NC_000013.10:g.115086579_115086580del	(Likely) benign	1 lab	4affa0dbcf
2:216264021 FN1 T>G	2	216264021	216264021	T	G	FN1	c.3307A>C	NM_212482.2	NP_997647.1:p.(Ile1103Leu)	NC_000002.11:g.216264021T>G	(Likely) benign	1 lab	4b0455d6ac
9:137646163 COL5A1 C>T	9	137646163	137646163	C	T	COL5A1	c.1818C>T	NM_000093.4	NP_000084.3:p.(Pro606=)	NC_000009.11:g.137646163C>T	(Likely) benign	1 lab	4b053778f3
10:21178841 NEBL T>C	10	21178841	21178841	T	C	NEBL	c.191A>G	NM_006393.2	NP_006384.1:p.(Lys64Arg)	NC_000010.10:g.21178841T>C	(Likely) benign	1 lab	4b06f78447
1:155264517 PKLR C>A	1	155264517	155264517	C	A	PKLR	c.721G>T	NM_000298.6	NP_000289.1:p.(Glu241Ter)	NC_000001.10:g.155264517C>A	(Likely) pathogenic	1 lab	4b0b5e8873
12:6442943 TNFRSF1A G>C	12	6442943	6442943	G	C	TNFRSF1A	c.282C>G	NM_001065.3	NP_001056.1:p.(Asn94Lys)	NC_000012.11:g.6442943G>C	(Likely) pathogenic	1 lab	4b0bc8ac67
18:47369758 MYO5B C>T	18	47369758	47369758	C	T	MYO5B	c.4464G>A	NM_001080467.3	NP_001073936.1:p.(Leu1488=)	NC_000018.9:g.47369758C>T	(Likely) benign	1 lab	4b13b1da39
11:47357467 MYBPC3 C>T	11	47357467	47357467	C	T	MYBPC3	c.2698G>A	NM_000256.3	NP_000247.2:p.(Gly900Ser)	NC_000011.9:g.47357467C>T	VUS	1 lab	4b180cd114
17:38978582 KRT10 G>C	17	38978582	38978582	G	C	KRT10	c.256C>G	NM_000421.3	NP_000412.3:p.(Arg86Gly)	NC_000017.10:g.38978582G>C	(Likely) benign	1 lab	4b1d23dded
19:6826630 VAV1 G>A	19	6826630	6826630	G	A	VAV1	c.835G>A	NM_005428.4	NP_005419.2:p.(Val279Ile)	NC_000019.9:g.6826630G>A	(Likely) benign	1 lab	4b202072e7
1:6268994 RNF207 C>T	1	6268994	6268994	C	T	RNF207	c.378C>T	NM_207396.3	NP_997279.2:p.(Arg126=)	NC_000001.10:g.6268994C>T	(Likely) benign	1 lab	4b21117c41
X:73962253 NEXMIF C>T	X	73962253	73962253	C	T	NEXMIF	c.2139G>A	NM_001008537.3	NP_001008537.1:p.(Glu713=)	NC_000023.10:g.73962253C>T	(Likely) benign	1 lab	4b22b58e62
7:36456770 ANLN C>T	7	36456770	36456770	C	T	ANLN	c.1604C>T	NM_018685.5	NP_061155.2:p.(Thr535Ile)	NC_000007.13:g.36456770C>T	(Likely) benign	1 lab	4b260a80cf
12:22065860 ABCC9 A>G	12	22065860	22065860	A	G	ABCC9	c.957T>C	NM_020297.2	NP_064693.2:p.(Ser319=)	NC_000012.11:g.22065860A>G	(Likely) benign	1 lab	4b28d56d9e
14:23866290 MYH6 C>T	14	23866290	23866290	C	T	MYH6	c.2051-1G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23866290C>T	VUS	1 lab	ceb50e811a
6:138201257 TNFAIP3 GA>G	6	138201257	138201259	GA	G	TNFAIP3	c.1958del	NM_001270508.2	NP_001257437.1:p.(Asn653ThrfsTer44)	NC_000006.11:g.138201259del	(Likely) pathogenic	1 lab	4b2c84990a
12:110013875 MVK C>T	12	110013875	110013875	C	T	MVK	c.151C>T	NM_000431.2	NP_000422.1:p.(Leu51Phe)	NC_000012.11:g.110013875C>T	(Likely) pathogenic	1 lab	4b32bb586a
13:52524469 ATP7B C>A	13	52524469	52524469	C	A	ATP7B	c.2514G>T	NM_000053.4	NP_000044.2:p.(Lys838Asn)	NC_000013.10:g.52524469C>A	VUS	1 lab	4b34995688
1:207648341 CR2 C>T	1	207648341	207648341	C	T	CR2	c.2496C>T	NM_001006658.2	NP_001006659.1:p.(Ser832=)	NC_000001.10:g.207648341C>T	(Likely) benign	1 lab	4b34b6850f
13:100955225 PCCA G>A	13	100955225	100955225	G	A	PCCA	c.1257G>A	NM_000282.4	NP_000273.2:p.(Gln419=)	NC_000013.10:g.100955225G>A	(Likely) benign	1 lab	4b393965da
12:52093391 SCN8A G>A	12	52093391	52093391	G	A	SCN8A	c.744G>A	NM_014191.4	NP_055006.1:p.(Val248=)	NC_000012.11:g.52093391G>A	(Likely) benign	1 lab	4b3a6cc91d
9:138650213 KCNT1 C>T	9	138650213	138650213	C	T	KCNT1	c.760-47C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138650213C>T	(Likely) benign	1 lab	4b414f43c3
14:65252069 SPTB GA>G	14	65252069	65252081	GA	G	SPTB	c.3855+185del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65252081del	(Likely) benign	1 lab	4b448a911f
16:50753917 NOD2 G>A	16	50753917	50753917	G	A	NOD2	c.2712G>A	NM_022162.1	NP_071445.1:p.(Leu904=)	NC_000016.9:g.50753917G>A	(Likely) benign	1 lab	4b46f6ac2c
11:1268923 MUC5B G>A	11	1268923	1268923	G	A	MUC5B	c.10813G>A	NM_002458.3	NP_002449.2:p.(Gly3605Arg)	NC_000011.9:g.1268923G>A	(Likely) benign	1 lab	ceb7c68e7c
1:3753892 CEP104 C>T	1	3753892	3753892	C	T	CEP104	c.1083G>A	NM_014704.3	NP_055519.1:p.(Pro361=)	NC_000001.10:g.3753892C>T	(Likely) benign	1 lab	4b4a68a423
4:2833719 SH3BP2 C>A	4	2833719	2833719	C	A	SH3BP2	c.1490+14C>A	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2833719C>A	(Likely) benign	1 lab	4b4f8125fc
2:191900945 STAT4 G>A	2	191900945	191900945	G	A	STAT4	c.1515C>T	NM_003151.4	NP_003142.1:p.(Tyr505=)	NC_000002.11:g.191900945G>A	(Likely) benign	1 lab	4b5067582c
14:23893328 MYH7 G>A	14	23893328	23893328	G	A	MYH7	c.2710C>T	NM_000257.4	NP_000248.2:p.(Arg904Cys)	NC_000014.8:g.23893328G>A	(Likely) pathogenic	1 lab	ceba121ff9
9:103348352 CAVIN4 AGAGAGGCTGAGACAGTCAGGG>A	9	103348352	103348400	AGAGAGGCTGAGACAGTCAGGG	A	CAVIN4	c.742_762del	NM_001018116.2	NP_001018126.1:p.(Leu248_Arg254del)	NC_000009.11:g.103348380_103348400del	VUS	1 lab	cebb6ea437
3:39227593 XIRP1 G>A	3	39227593	39227593	G	A	XIRP1	c.3344C>T	NM_194293.4	NP_919269.2:p.(Ala1115Val)	NC_000003.11:g.39227593G>A	(Likely) benign	1 lab	4b5e42cd62
16:81954868 PLCG2 G>A	16	81954868	81954868	G	A	PLCG2	c.2301G>A	NM_002661.3	NP_002652.2:p.(Pro767=)	NC_000016.9:g.81954868G>A	(Likely) benign	1 lab	4b5e8f5110
19:2137106 AP3D1 T>G	19	2137106	2137106	T	G	AP3D1	c.274-16A>C	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2137106T>G	(Likely) benign	1 lab	4b632dc308
16:27689313 KATNIP CA>C	16	27689313	27689317	CA	C	KATNIP	c.808del	NM_015202.5	NP_056017.4:p.(Ser270ValfsTer28)	NC_000016.9:g.27689317del	VUS	1 lab	4b645ebe6b
20:56140085 PCK1 T>C	20	56140085	56140085	T	C	PCK1	c.1319-11T>C	NM_002591.4	NP_002582.3:p.?	NC_000020.10:g.56140085T>C	(Likely) benign	1 lab	4b68b543be
2:179434581 TTN C>T	2	179434581	179434581	C	T	TTN	c.49458G>A	NM_133432.3	NP_597676.3:p.(Trp16486Ter)	NC_000002.11:g.179434581C>T	(Likely) pathogenic	1 lab	4b6b8411c5
2:166245080 SCN2A A>G	2	166245080	166245080	A	G	SCN2A	c.4823-59A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166245080A>G	VUS	1 lab	4b6e7a579e
15:93489597 CHD2 A>T	15	93489597	93489597	A	T	CHD2	c.1377+151A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93489597A>T	(Likely) benign	1 lab	4b706eaa68
16:81819812 PLCG2 T>C	16	81819812	81819812	T	C	PLCG2	c.193+25T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81819812T>C	(Likely) benign	1 lab	4b723cc0e6
8:143999146 CYP11B2 C>T	8	143999146	143999146	C	T	CYP11B2	c.111G>A	NM_000498.3	NP_000489.3:p.(Pro37=)	NC_000008.10:g.143999146C>T	(Likely) benign	1 lab	4b7253b252
4:5798857 EVC G>A	4	5798857	5798857	G	A	EVC	c.1995G>A	NM_153717.3	NP_714928.1:p.(Ser665=)	NC_000004.11:g.5798857G>A	(Likely) benign	1 lab	4b755cb2d6
12:13769603 GRIN2B T>C	12	13769603	13769603	T	C	GRIN2B	c.1126-12A>G	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13769603T>C	(Likely) benign	1 lab	4b77a79d50
4:78979141 FRAS1 C>T	4	78979141	78979141	C	T	FRAS1	c.-23C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979141C>T	(Likely) benign	1 lab	4b77f8a879
8:17796373 PCM1 C>T	8	17796373	17796373	C	T	PCM1	c.467C>T	NM_006197.4	NP_006188.4:p.(Ala156Val)	NC_000008.10:g.17796373C>T	(Likely) benign	1 lab	4b88144d85
11:3848826 RHOG C>T	11	3848826	3848826	C	T	RHOG	c.543G>A	NM_001665.4	NP_001656.2:p.(Pro181=)	NC_000011.9:g.3848826C>T	(Likely) benign	1 lab	4b89a41778
1:237831269 RYR2 C>T	1	237831269	237831269	C	T	RYR2	c.8590+11C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237831269C>T	(Likely) benign	1 lab	4b8d4b9281
5:161528028 GABRG2 G>C	5	161528028	161528028	G	C	GABRG2				NC_000005.9:g.161528028G>C	(Likely) benign	1 lab	4b8e1a4a93
16:3299564 MEFV T>C	16	3299564	3299564	T	C	MEFV	c.1127A>G	NM_000243.2	NP_000234.1:p.(Lys376Arg)	NC_000016.9:g.3299564T>C	VUS	1 lab	4b92f14038
16:27751639 KATNIP A>C	16	27751639	27751639	A	C	KATNIP	c.2021A>C	NM_015202.3	NP_056017.3:p.(Gln674Pro)	NC_000016.9:g.27751639A>C	(Likely) benign	1 lab	4b9451b739
19:33792423 CEBPA G>A	19	33792423	33792423	G	A	CEBPA	c.898C>T	NM_004364.3	NP_004355.2:p.(Arg300Cys)	NC_000019.9:g.33792423G>A	VUS	1 lab	4b9499f2fb
1:181480664 CACNA1E CTCTG>C	1	181480664	181480673	CTCTG	C	CACNA1E	c.512+24_512+27del	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181480670_181480673del	(Likely) benign	1 lab	4b9d8bfb97
12:110029067 MVK C>T	12	110029067	110029067	C	T	MVK	c.790C>T	NM_000431.2	NP_000422.1:p.(Leu264Phe)	NC_000012.11:g.110029067C>T	(Likely) pathogenic	1 lab	4ba2a96e75
4:88940707 PKD2 CAT>C	4	88940707	88940710	CAT	C	PKD2	c.695_696del	NM_000297.4	NP_000288.1:p.(Ile232SerfsTer37)	NC_000004.11:g.88940709_88940710del	(Likely) pathogenic	1 lab	4ba364b99c
7:154564611 DPP6 C>T	7	154564611	154564611	C	T	DPP6	c.1095C>T	NM_130797.4	NP_570629.2:p.(Thr365=)	NC_000007.13:g.154564611C>T	(Likely) benign	1 lab	4ba3e7306c
22:19898887 TXNRD2 G>A	22	19898887	19898887	G	A	TXNRD2	c.662+13C>T	NM_006440.3	NP_006431.2:p.?	NC_000022.10:g.19898887G>A	(Likely) benign	1 lab	4bad088261
16:67682840 CARMIL2 C>T	16	67682840	67682840	C	T	CARMIL2	c.1554C>T	NM_001013838.3	NP_001013860.1:p.(Asp518=)	NC_000016.9:g.67682840C>T	(Likely) benign	1 lab	4bb680b44e
18:32459599 DTNA A>G	18	32459599	32459599	A	G	DTNA	c.1838A>G	NM_001198939.2	NP_001185868.1:p.(Glu613Gly)	NC_000018.9:g.32459599A>G	VUS	1 lab	4bb864f5b8
15:44958657 PATL2 TG>T	15	44958657	44958658	TG	T	PATL2	c.1545del	NM_001145112.2	NP_001138584.1:p.(Ser515ArgfsTer42)	NC_000015.9:g.44958658del	(Likely) pathogenic	1 lab	cec77d1e42
1:196709754 CFH C>T	1	196709754	196709754	C	T	CFH	c.2788C>T	NM_000186.3	NP_000177.2:p.(Pro930Ser)	NC_000001.10:g.196709754C>T	(Likely) benign	1 lab	4bc843953f
12:110028497 MVK CT>C	12	110028497	110028499	CT	C	MVK	c.678-77del	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110028499del	(Likely) benign	1 lab	4bcc3513a6
2:166164215 SCN2A CA>C	2	166164215	166164223	CA	C	SCN2A	c.387-135del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166164223del	(Likely) benign	1 lab	4bcd9bd355
1:63099238 DOCK7 G>A	1	63099238	63099238	G	A	DOCK7	c.1047C>T	NM_001271999.1	NP_001258928.1:p.(Val349=)	NC_000001.10:g.63099238G>A	(Likely) benign	1 lab	4bce2b6917
1:247587872 NLRP3 C>A	1	247587872	247587872	C	A	NLRP3	c.1121C>A	NM_001243133.2	NP_001230062.1:p.(Ala374Asp)	NC_000001.10:g.247587872C>A	(Likely) pathogenic	1 lab	4bd015c49f
4:78989842 FRAS1 G>A	4	78989842	78989842	G	A	FRAS1	c.108+2672G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78989842G>A	(Likely) benign	1 lab	4bd3c8f740
4:79385635 FRAS1 T>C	4	79385635	79385635	T	C	FRAS1	c.6927T>C	NM_025074.7	NP_079350.5:p.(Asp2309=)	NC_000004.11:g.79385635T>C	(Likely) benign	1 lab	4bd9040c26
9:139390759 NOTCH1 C>T	9	139390759	139390759	C	T	NOTCH1	c.7432G>A	NM_017617.5	NP_060087.3:p.(Ala2478Thr)	NC_000009.11:g.139390759C>T	(Likely) benign	1 lab	4bdec0ddf8
16:23197927 SCNN1G G>C	16	23197927	23197927	G	C	SCNN1G	c.317+18G>C	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23197927G>C	(Likely) benign	1 lab	4bdf4e6e39
22:39064089 CBY1 G>A	22	39064089	39064089	G	A	CBY1	c.159G>A	NM_001002880.1	NP_001002880.2:p.(Pro53=)	NC_000022.10:g.39064089G>A	(Likely) benign	1 lab	4be0ff77cd
12:110013850 MVK ACC>A	12	110013850	110013854	ACC	A	MVK	c.129_130del	NM_000431.4	NP_000422.1:p.(His44GlnfsTer35)	NC_000012.11:g.110013853_110013854del	(Likely) pathogenic	1 lab	4be3ca0ebf
3:9969873 IL17RC C>T	3	9969873	9969873	C	T	IL17RC	c.1059C>T	NM_153461.4	NP_703191.2:p.(Ser353=)	NC_000003.11:g.9969873C>T	(Likely) benign	1 lab	4bef3bc30e
4:79285146 FRAS1 C>G	4	79285146	79285146	C	G	FRAS1	c.2660C>G	NM_025074.7	NP_079350.5:p.(Thr887Ser)	NC_000004.11:g.79285146C>G	(Likely) benign	1 lab	4bf01b3cc8
14:65268231 SPTB G>A	14	65268231	65268231	G	A	SPTB	c.648-113C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268231G>A	(Likely) benign	1 lab	4bf2400136
4:126239786 FAT4 T>C	4	126239786	126239786	T	C	FAT4	c.2220T>C	NM_001291303.1	NP_001278232.1:p.(Ala740=)	NC_000004.11:g.126239786T>C	(Likely) benign	1 lab	4bf6aa1b44
1:235909815 LYST A>T	1	235909815	235909815	A	T	LYST	c.7793T>A	NM_000081.3	NP_000072.2:p.(Phe2598Tyr)	NC_000001.10:g.235909815A>T	(Likely) benign	1 lab	4bfaed248c
2:179594064 TTN T>C	2	179594064	179594064	T	C	TTN	c.18819A>G	NM_001267550.1	NP_001254479.1:p.(Val6273=)	NC_000002.11:g.179594064T>C	(Likely) benign	1 lab	4bfb6d7705
12:110012689 MVK C>T	12	110012689	110012689	C	T	MVK	c.62C>T	NM_000431.2	NP_000422.1:p.(Ala21Val)	NC_000012.11:g.110012689C>T	(Likely) pathogenic	1 lab	4bfd5657ec
19:6684457 C3 A>G	19	6684457	6684457	A	G	C3	c.4121-7T>C	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6684457A>G	(Likely) benign	1 lab	4ca907bf65
10:78767972 KCNMA1 T>C	10	78767972	78767972	T	C	KCNMA1	c.2104+3753A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78767972T>C	(Likely) benign	1 lab	4bfdcb6d55
1:6530547 PLEKHG5 C>T	1	6530547	6530547	C	T	PLEKHG5	c.1911+19G>A	NM_198681.3	NP_941374.2:p.?	NC_000001.10:g.6530547C>T	(Likely) benign	1 lab	4c005b5818
8:17814815 PCM1 T>C	8	17814815	17814815	T	C	PCM1	c.1689T>C	NM_006197.4	NP_006188.4:p.(His563=)	NC_000008.10:g.17814815T>C	(Likely) benign	1 lab	4c010ae2bd
2:216257886 FN1 G>A	2	216257886	216257886	G	A	FN1	c.3837C>T	NM_212482.2	NP_997647.1:p.(Thr1279=)	NC_000002.11:g.216257886G>A	(Likely) benign	1 lab	4c01c09f50
X:47486698 CFP G>C	X	47486698	47486698	G	C	CFP	c.608C>G	NM_002621.2	NP_002612.1:p.(Thr203Ser)	NC_000023.10:g.47486698G>C	(Likely) benign	1 lab	4c0202665d
14:54418986 BMP4 T>C	14	54418986	54418986	T	C	BMP4	c.-7-39A>G	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54418986T>C	(Likely) benign	1 lab	4d133b0c53
3:9959221 IL17RC G>GTCTGGTCTT	3	9959221	9959228	G	GTCTGGTCTT	IL17RC	c.228_229insCTTTCTGGT	NM_153461.4	NP_703191.2:p.(Leu74_Gly76dup)	NC_000003.11:g.9959227_9959228insCTTTCTGGT	(Likely) benign	1 lab	4c022b1e37
X:153581779 FLNA G>A	X	153581779	153581779	G	A	FLNA	c.5883C>T	NM_001456.3	NP_001447.2:p.(Ala1961=)	NC_000023.10:g.153581779G>A	(Likely) benign	1 lab	4c0450a85b
2:169842811 ABCB11 C>T	2	169842811	169842811	C	T	ABCB11	c.909-17G>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169842811C>T	(Likely) benign	1 lab	4c04833fdc
19:39057560 RYR1 G>A	19	39057560	39057560	G	A	RYR1	c.13447G>A	NM_000540.2	NP_000531.2:p.(Val4483Met)	NC_000019.9:g.39057560G>A	(Likely) benign	1 lab	4c0563d83b
12:13725095 GRIN2B A>G	12	13725095	13725095	A	G	GRIN2B	c.2011-197T>C	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13725095A>G	(Likely) benign	1 lab	4c0a47e7c4
12:103248955 PAH T>C	12	103248955	103248955	T	C	PAH	c.665A>G	NM_000277.3	NP_000268.1:p.(Asp222Gly)	NC_000012.11:g.103248955T>C	(Likely) pathogenic	1 lab	4c0f22667c
2:241815380 AGXT C>T	2	241815380	241815380	C	T	AGXT	c.805C>T	NM_000030.3	NP_000021.1:p.(Leu269=)	NC_000002.11:g.241815380C>T	(Likely) benign	1 lab	4c11984abe
7:82997122 SEMA3E G>A	7	82997122	82997122	G	A	SEMA3E	c.2108C>T	NM_012431.3	NP_036563.1:p.(Ser703Leu)	NC_000007.13:g.82997122G>A	(Likely) benign	1 lab	4c126c3b6f
16:2160053 PKD1 G>A	16	2160053	2160053	G	A	PKD1	c.5115C>T	NM_001009944.2	NP_001009944.2:p.(Ser1705=)	NC_000016.9:g.2160053G>A	(Likely) benign	1 lab	4c14dce775
4:8608506 CPZ C>T	4	8608506	8608506	C	T	CPZ	c.538C>T	NM_001014448.2	NP_001014448.1:p.(Gln180Ter)	NC_000004.11:g.8608506C>T	(Likely) pathogenic	1 lab	4c1f8fd32a
14:105857981 PACS2 C>G	14	105857981	105857981	C	G	PACS2	c.2133C>G	NM_001100913.3	NP_001094383.2:p.(Asp711Glu)	NC_000014.8:g.105857981C>G	(Likely) benign	1 lab	4c2fc1d92c
20:62045527 KCNQ2 C>G	20	62045527	62045527	C	G	KCNQ2	c.1545G>C	NM_172107.4	NP_742105.1:p.(Glu515Asp)	NC_000020.10:g.62045527C>G	(Likely) benign	1 lab	4c3411a97a
12:57589865 LRP1 C>T	12	57589865	57589865	C	T	LRP1	c.8702-5C>T	NM_002332.3	NP_002323.2:p.?	NC_000012.11:g.57589865C>T	(Likely) benign	1 lab	ced27ab6db
2:47641561 MSH2 A>G	2	47641561	47641561	A	G	MSH2	c.942+4A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641561A>G	(Likely) benign	1 lab	ced361ccff
21:11021215 BAGE2 T>TA	21	11021215	11021220	T	TA	BAGE2	c.*1176-5dup	NM_182482.2	NP_872288.2:p.?	NC_000021.8:g.11021220dup	(Likely) benign	1 lab	4c3642d0bf
7:66105589 KCTD7 AT>A	7	66105589	66105600	AT	A	KCTD7	c.*1381del	NM_153033.5	NP_694578.1:p.?	NC_000007.13:g.66105600del	(Likely) benign	1 lab	4c3b2a3df8
15:48541534 SLC12A1 A>AG	15	48541534	48541535	A	AG	SLC12A1	c.1685-237dup	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48541535dup	(Likely) benign	1 lab	4c3ebe4254
2:9642409 ADAM17 GAGA>G	2	9642409	9642416	GAGA	G	ADAM17	c.1545-7_1545-5del	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9642414_9642416del	(Likely) benign	1 lab	4c42b907d7
14:58895199 KIAA0586 GT>G	14	58895199	58895204	GT	G	KIAA0586	c.199+23del	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.58895204del	(Likely) benign	1 lab	4c451a96b1
20:47991178 KCNB1 T>G	20	47991178	47991178	T	G	KCNB1	c.919A>C	NM_004975.4	NP_004966.1:p.(Ile307Leu)	NC_000020.10:g.47991178T>G	(Likely) pathogenic	1 lab	4c4565c8e2
2:20131058 WDR35 C>T	2	20131058	20131058	C	T	WDR35	c.2969G>A	NM_001006657.2	NP_001006658.1:p.(Arg990Gln)	NC_000002.11:g.20131058C>T	(Likely) benign	1 lab	4c47736c1b
11:6646887 DCHS1 A>G	11	6646887	6646887	A	G	DCHS1	c.6803T>C	NM_003737.4	NP_003728.1:p.(Ile2268Thr)	NC_000011.9:g.6646887A>G	(Likely) benign	1 lab	4c4ea53419
2:110886671 NPHP1 CA>C	2	110886671	110886680	CA	C	NPHP1	c.1716+91del	NM_001128178.3	NP_001121650.1:p.?	NC_000002.11:g.110886680del	(Likely) benign	1 lab	4c50cb451a
8:42977980 POMK T>G	8	42977980	42977980	T	G	POMK	c.1013T>G	NM_032237.5	NP_115613.1:p.(Leu338Arg)	NC_000008.10:g.42977980T>G	(Likely) benign	1 lab	4c5377b8a6
17:73839326 UNC13D C>T	17	73839326	73839326	C	T	UNC13D	c.175G>A	NM_199242.2	NP_954712.1:p.(Ala59Thr)	NC_000017.10:g.73839326C>T	(Likely) benign	1 lab	4c573b455b
12:53454608 TNS2 C>T	12	53454608	53454608	C	T	TNS2	c.2948C>T	NM_015319.2	NP_056134.2:p.(Pro983Leu)	NC_000012.11:g.53454608C>T	(Likely) benign	1 lab	4c57d853f4
15:48902961 FBN1 ATGGGCAAGTGCACATATT>A	15	48902961	48902982	ATGGGCAAGTGCACATATT	A	FBN1	c.292_309del	NM_000138.5	NP_000129.3:p.(Asn98_Pro103del)	NC_000015.9:g.48902965_48902982del	(Likely) pathogenic	1 lab	4c57db6b46
17:56348122 MPO G>A	17	56348122	56348122	G	A	MPO	c.2133C>T	NM_000250.1	NP_000241.1:p.(Thr711=)	NC_000017.10:g.56348122G>A	(Likely) benign	1 lab	4c5a1baa16
19:17949093 JAK3 G>A	19	17949093	17949093	G	A	JAK3	c.1548C>T	NM_000215.3	NP_000206.2:p.(Ile516=)	NC_000019.9:g.17949093G>A	(Likely) benign	1 lab	4c6207e9b3
22:32241215 DEPDC5 A>G	22	32241215	32241215	A	G	DEPDC5	c.3013A>G	NM_001242896.3	NP_001229825.1:p.(Met1005Val)	NC_000022.10:g.32241215A>G	(Likely) benign	1 lab	4c66fe253a
12:110230712 TRPV4 G>A	12	110230712	110230712	G	A	TRPV4	c.1659-90C>T	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110230712G>A	(Likely) benign	1 lab	4c68d93f56
12:69107547 NUP107 ACTT>A	12	69107547	69107553	ACTT	A	NUP107	c.932_934del	NM_020401.4	NP_065134.1:p.(Ser311del)	NC_000012.11:g.69107551_69107553del	(Likely) benign	1 lab	4c6bfe2ff0
9:126125254 CRB2 C>T	9	126125254	126125254	C	T	CRB2	c.205C>T	NM_173689.7	NP_775960.4:p.(Arg69Trp)	NC_000009.11:g.126125254C>T	(Likely) benign	1 lab	4c72343817
16:3299609 MEFV C>G	16	3299609	3299609	C	G	MEFV	c.1082G>C	NM_000243.2	NP_000234.1:p.(Arg361Thr)	NC_000016.9:g.3299609C>G	VUS	1 lab	4c74233f5a
14:77493788 IRF2BPL C>T	14	77493788	77493788	C	T	IRF2BPL	c.348G>A	NM_024496.4	NP_078772.1:p.(Gln116=)	NC_000014.8:g.77493788C>T	(Likely) benign	1 lab	4c749b4dc2
13:86368130 SLITRK6 C>G	13	86368130	86368130	C	G	SLITRK6	c.2514G>C	NM_032229.3	NP_115605.2:p.(Glu838Asp)	NC_000013.10:g.86368130C>G	VUS	1 lab	ced3704902
4:5803833 EVC C>G	4	5803833	5803833	C	G	EVC	c.2449+12C>G	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5803833C>G	(Likely) benign	1 lab	4c7b39b22e
3:69813096 MITF A>G	3	69813096	69813096	A	G	MITF	c.-77+24244A>G	NM_001354607.2	NP_001341536.1:p.?	NC_000003.11:g.69813096A>G	VUS	1 lab	ced395fbab
19:13446434 CACNA1A G>T	19	13446434	13446434	G	T	CACNA1A	c.1082+186C>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13446434G>T	(Likely) benign	1 lab	4c7e0673b8
3:24231684 THRB G>A	3	24231684	24231684	G	A	THRB	c.164C>T	NM_001252634.2	NP_001239563.1:p.(Ser55Leu)	NC_000003.11:g.24231684G>A	(Likely) benign	1 lab	4c811c19af
2:179399355 TTN G>A	2	179399355	179399355	G	A	TTN	c.75167C>T	NM_133432.3	NP_597676.3:p.(Thr25056Ile)	NC_000002.11:g.179399355G>A	VUS	1 lab	4c81bcd4ab
8:41584853 ANK1 G>A	8	41584853	41584853	G	A	ANK1	c.341C>T	NM_000037.4	NP_000028.3:p.(Pro114Leu)	NC_000008.10:g.41584853G>A	(Likely) pathogenic	1 lab	4c872dd272
16:31195569 FUS C>G	16	31195569	31195569	C	G	FUS	c.375C>G	NM_004960.3	NP_004951.1:p.(Pro125=)	NC_000016.9:g.31195569C>G	(Likely) benign	1 lab	4c8744ac19
9:32973709 APTX CAA>C	9	32973709	32973727	CAA	C	APTX	c.875-61_875-60del	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32973726_32973727del	(Likely) benign	1 lab	4c883268a9
6:32049429 TNXB G>T	6	32049429	32049429	G	T	TNXB	c.3758C>A	NM_019105.8	NP_061978.6:p.(Pro1253His)	NC_000006.11:g.32049429G>T	(Likely) benign	1 lab	4c88821f75
1:158604143 SPTA1 G>A	1	158604143	158604143	G	A	SPTA1	c.5565+190C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158604143G>A	(Likely) benign	1 lab	4c89575a9a
4:515636 PIGG C>T	4	515636	515636	C	T	PIGG	c.1520C>T	NM_001127178.3	NP_001120650.1:p.(Ala507Val)	NC_000004.11:g.515636C>T	(Likely) benign	1 lab	4c89c6ef38
1:35250560 GJB3 A>G	1	35250560	35250560	A	G	GJB3	c.197A>G	NM_024009.3	NP_076872.1:p.(Asp66Gly)	NC_000001.10:g.35250560A>G	VUS	1 lab	ced46d127c
X:147026383 FMR1 C>T	X	147026383	147026383	C	T	FMR1	c.1472-6C>T	NM_002024.6	NP_002015.1:p.?	NC_000023.10:g.147026383C>T	(Likely) benign	1 lab	ced515ba3f
17:66519972 PRKAR1A T>C	17	66519972	66519972	T	C	PRKAR1A	c.440+15T>C	NM_212471.2	NP_997636.1:p.?	NC_000017.10:g.66519972T>C	(Likely) benign	1 lab	4c8e0843bd
1:205132866 DSTYK A>G	1	205132866	205132866	A	G	DSTYK	c.1542T>C	NM_015375.3	NP_056190.1:p.(Ser514=)	NC_000001.10:g.205132866A>G	(Likely) benign	1 lab	4c8ef681e5
1:223962528 CAPN2 C>T	1	223962528	223962528	C	T	CAPN2	c.2080-8C>T	NM_001748.5	NP_001739.3:p.?	NC_000001.10:g.223962528C>T	(Likely) benign	1 lab	4c91538425
17:4098478 ANKFY1 A>G	17	4098478	4098478	A	G	ANKFY1	c.1299-6T>C	NM_001257999.2	NP_001244928.1:p.?	NC_000017.10:g.4098478A>G	(Likely) benign	1 lab	4c99381d2e
15:43498759 EPB42 C>T	15	43498759	43498759	C	T	EPB42	c.1477G>A	NM_000119.3	NP_000110.2:p.(Gly493Ser)	NC_000015.9:g.43498759C>T	(Likely) benign	1 lab	4c9e0dbd04
4:113299054 ALPK1 G>A	4	113299054	113299054	G	A	ALPK1	c.121G>A	NM_025144.4	NP_079420.3:p.(Ala41Thr)	NC_000004.11:g.113299054G>A	(Likely) benign	1 lab	4ca0166a25
12:103246723 PAH T>C	12	103246723	103246723	T	C	PAH	c.712A>G	NM_000277.3	NP_000268.1:p.(Thr238Ala)	NC_000012.11:g.103246723T>C	(Likely) pathogenic	1 lab	4ca42e900b
9:336819 DOCK8 G>T	9	336819	336819	G	T	DOCK8	c.1422+101G>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.336819G>T	(Likely) benign	1 lab	4ca4cc115e
6:151738410 RMND1 G>A	6	151738410	151738410	G	A	RMND1	c.1200+4C>T	NM_017909.4	NP_060379.2:p.?	NC_000006.11:g.151738410G>A	(Likely) benign	1 lab	4cb5ba290b
19:48636370 LIG1 A>G	19	48636370	48636370	A	G	LIG1	c.1607-16T>C	NM_001320970.2	NP_001307899.1:p.?	NC_000019.9:g.48636370A>G	(Likely) benign	1 lab	4cb65f2c98
3:14206398 XPC G>GA	3	14206398	14206401	G	GA	XPC	c.814dup	NM_004628.4	NP_004619.3:p.(Ser272PhefsTer4)	NC_000003.11:g.14206401dup	(Likely) pathogenic	1 lab	4cb916e8ce
20:62046309 KCNQ2 C>T	20	62046309	62046309	C	T	KCNQ2	c.1472G>A	NM_172107.4	NP_742105.1:p.(Arg491Gln)	NC_000020.10:g.62046309C>T	(Likely) pathogenic	1 lab	4cbc522739
X:21613433 CNKSR2 C>A	X	21613433	21613433	C	A	CNKSR2	c.1905-9C>A	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21613433C>A	(Likely) benign	1 lab	4cc1a3e058
X:32383121 DMD T>C	X	32383121	32383121	T	C	DMD	c.5025+16A>G	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32383121T>C	(Likely) benign	1 lab	4cc37005cb
1:116268196 CASQ2 A>G	1	116268196	116268196	A	G	CASQ2	c.738-22T>C	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116268196A>G	(Likely) benign	1 lab	4cc91a50d7
12:52159449 SCN8A C>A	12	52159449	52159449	C	A	SCN8A	c.2545-6C>A	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52159449C>A	(Likely) benign	1 lab	4ccc0d3c6c
6:36653610 CDKN1A G>A	6	36653610	36653610	G	A	CDKN1A	c.*33G>A	NM_001220778.2	NP_001207707.1:p.?	NC_000006.11:g.36653610G>A	(Likely) benign	1 lab	4ccfe7ddc4
16:1263939 CACNA1H C>T	16	1263939	1263939	C	T	CACNA1H	c.4929+8C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1263939C>T	(Likely) benign	1 lab	4cd1e420cc
16:9928100 GRIN2A A>G	16	9928100	9928100	A	G	GRIN2A	c.1652-13T>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9928100A>G	(Likely) benign	1 lab	4cd4c2b0bf
1:228529324 OBSCN C>T	1	228529324	228529324	C	T	OBSCN	c.20905+9C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228529324C>T	(Likely) benign	1 lab	4cd89fb0fc
2:168100519 XIRP2 C>T	2	168100519	168100519	C	T	XIRP2	c.2617C>T	NM_152381.6	NP_689594.4:p.(Gln873Ter)	NC_000002.11:g.168100519C>T	(Likely) pathogenic	1 lab	4cd947073a
8:41559126 ANK1 C>T	8	41559126	41559126	C	T	ANK1	c.2403G>A	NM_000037.4	NP_000028.3:p.(Lys801=)	NC_000008.10:g.41559126C>T	(Likely) benign	1 lab	4cdcd19209
10:97967643 BLNK C>T	10	97967643	97967643	C	T	BLNK	c.759G>A	NM_013314.3	NP_037446.1:p.(Thr253=)	NC_000010.10:g.97967643C>T	(Likely) benign	1 lab	4cde92f534
16:3306338 MEFV C>T	16	3306338	3306338	C	T	MEFV	c.250G>A	NM_000243.2	NP_000234.1:p.(Glu84Lys)	NC_000016.9:g.3306338C>T	VUS	1 lab	4cdfc343a5
17:76501500 DNAH17 C>G	17	76501500	76501500	C	G	DNAH17	c.4831G>C	NM_173628.4	NP_775899.3:p.(Asp1611His)	NC_000017.10:g.76501500C>G	VUS	1 lab	da0ac305fb
20:42744709 JPH2 C>T	20	42744709	42744709	C	T	JPH2	c.1606G>A	NM_020433.4	NP_065166.2:p.(Ala536Thr)	NC_000020.10:g.42744709C>T	(Likely) benign	1 lab	4ce503abb5
6:32942302 BRD2 G>A	6	32942302	32942302	G	A	BRD2	c.93G>A	NM_001199455.1	NP_001186384.1:p.(Lys31=)	NC_000006.11:g.32942302G>A	(Likely) benign	1 lab	4ce51c2483
20:61981912 CHRNA4 G>A	20	61981912	61981912	G	A	CHRNA4	c.851C>T	NM_000744.6	NP_000735.1:p.(Ser284Leu)	NC_000020.10:g.61981912G>A	VUS	1 lab	4ce5364c23
8:145641977 SLC39A4 G>T	8	145641977	145641977	G	T	SLC39A4	c.192+5C>A	NM_130849.4	NP_570901.3:p.?	NC_000008.10:g.145641977G>T	(Likely) benign	1 lab	4cef426b20
1:11194416 MTOR G>A	1	11194416	11194416	G	A	MTOR	c.5238C>T	NM_004958.3	NP_004949.1:p.(Leu1746=)	NC_000001.10:g.11194416G>A	(Likely) benign	1 lab	4cf66ddf4f
9:127244955 NR5A1 G>A	9	127244955	127244955	G	A	NR5A1	c.*82C>T	NM_004959.5	NP_004950.2:p.?	NC_000009.11:g.127244955G>A	(Likely) benign	1 lab	4cfda637c2
10:127461291 MMP21 G>A	10	127461291	127461291	G	A	MMP21	c.726C>T	NM_147191.1	NP_671724.1:p.(Phe242=)	NC_000010.10:g.127461291G>A	(Likely) benign	1 lab	4cff09bd86
10:100249964 HPSE2 T>C	10	100249964	100249964	T	C	HPSE2	c.1321-11A>G	NM_021828.4	NP_068600.4:p.?	NC_000010.10:g.100249964T>C	(Likely) benign	1 lab	4d114f4c4c
15:48704773 FBN1 T>C	15	48704773	48704773	T	C	FBN1	c.8219A>G	NM_000138.5	NP_000129.3:p.(Asn2740Ser)	NC_000015.9:g.48704773T>C	(Likely) benign	1 lab	cedca42dd9
6:83900699 PGM3 T>C	6	83900699	83900699	T	C	PGM3	c.117A>G	NM_001199917.2	NP_001186846.1:p.(Ala39=)	NC_000006.11:g.83900699T>C	(Likely) benign	1 lab	4d18613635
9:35737883 GBA2 G>A	9	35737883	35737883	G	A	GBA2	c.2367C>T	NM_020944.3	NP_065995.1:p.(Asn789=)	NC_000009.11:g.35737883G>A	(Likely) benign	1 lab	4d1c9da1de
2:166243208 SCN2A A>T	2	166243208	166243208	A	T	SCN2A	c.4552-48A>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243208A>T	(Likely) benign	1 lab	4d1e47b921
2:202503779 TMEM237 A>G	2	202503779	202503779	A	G	TMEM237	c.80-11T>C	NM_001044385.3	NP_001037850.1:p.?	NC_000002.11:g.202503779A>G	(Likely) benign	1 lab	4d2b4de997
15:45003830 B2M C>T	15	45003830	45003830	C	T	B2M	c.67+19C>T	NM_004048.3	NP_004039.1:p.?	NC_000015.9:g.45003830C>T	(Likely) benign	1 lab	4d2d943f5e
2:202073764 CASP10 CT>C	2	202073764	202073780	CT	C	CASP10	c.923-13del	NM_032977.4	NP_116759.2:p.?	NC_000002.11:g.202073780del	(Likely) benign	1 lab	cedda2a489
16:4848159 ROGDI G>A	16	4848159	4848159	G	A	ROGDI	c.558C>T	NM_024589.2	NP_078865.1:p.(Ser186=)	NC_000016.9:g.4848159G>A	(Likely) benign	1 lab	4d32f1dd70
4:1803633 FGFR3 G>A	4	1803633	1803633	G	A	FGFR3	c.811G>A	NM_000142.5	NP_000133.1:p.(Val271Met)	NC_000004.11:g.1803633G>A	VUS	1 lab	cedf57a375
13:39266862 FREM2 T>C	13	39266862	39266862	T	C	FREM2	c.5173+208T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39266862T>C	(Likely) benign	1 lab	4d3a60d65d
12:111082819 TCTN1 G>C	12	111082819	111082819	G	C	TCTN1	c.1379G>C	NM_001082538.3	NP_001076007.1:p.(Ser460Thr)	NC_000012.11:g.111082819G>C	(Likely) benign	1 lab	4d3a8ddad3
10:79588620 DLG5 GCTCCAGC>G	10	79588620	79588629	GCTCCAGC	G	DLG5	c.2289+13_2289+19del	NM_004747.4	NP_004738.3:p.?	NC_000010.10:g.79588623_79588629del	(Likely) benign	1 lab	4d3b4df183
1:2160845 SKI A>G	1	2160845	2160845	A	G	SKI	c.640A>G	NM_003036.4	NP_003027.1:p.(Ser214Gly)	NC_000001.10:g.2160845A>G	(Likely) benign	1 lab	4d3cc9644d
13:77570301 CLN5 C>A	13	77570301	77570301	C	A	CLN5	c.712+39C>A	NM_006493.2	NP_006484.1:p.?	NC_000013.10:g.77570301C>A	(Likely) benign	1 lab	4d43ac9f8e
8:61764757 CHD7 A>G	8	61764757	61764757	A	G	CHD7				NC_000008.10:g.61764757A>G	VUS	1 lab	4d471c9fde
2:145146503 ZEB2 GA>G	2	145146503	145146513	GA	G	ZEB2	c.*514del	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145146513del	(Likely) benign	1 lab	4d4f8cf28c
19:7710134 STXBP2 C>T	19	7710134	7710134	C	T	STXBP2	c.1289C>T	NM_001127396.3	NP_001120868.1:p.(Ala430Val)	NC_000019.9:g.7710134C>T	(Likely) benign	1 lab	4d5a7a44e9
9:139262205 CARD9 C>G	9	139262205	139262205	C	G	CARD9	c.1153G>C	NM_052814.4	NP_434701.1:p.(Val385Leu)	NC_000009.11:g.139262205C>G	(Likely) benign	1 lab	4d5e550e3f
17:39925368 JUP G>A	17	39925368	39925368	G	A	JUP	c.560C>T	NM_002230.4	NP_002221.1:p.(Ala187Val)	NC_000017.10:g.39925368G>A	VUS	1 lab	cee6e7683b
17:78162181 CARD14 T>G	17	78162181	78162181	T	G	CARD14	c.681T>G	NM_024110.4	NP_077015.2:p.(Tyr227Ter)	NC_000017.10:g.78162181T>G	(Likely) pathogenic	1 lab	4d5fdc2380
15:93540530 CHD2 G>T	15	93540530	93540530	G	T	CHD2	c.3782G>T	NM_001271.4	NP_001262.3:p.(Trp1261Leu)	NC_000015.9:g.93540530G>T	(Likely) pathogenic	1 lab	cee80b9601
X:153224915 HCFC1 C>A	X	153224915	153224915	C	A	HCFC1	c.1472G>T	NM_005334.3	NP_005325.2:p.(Gly491Val)	NC_000023.10:g.153224915C>A	VUS	1 lab	ceebf49113
X:76938346 ATRX G>T	X	76938346	76938346	G	T	ATRX	c.2402C>A	NM_000489.5	NP_000480.3:p.(Ser801Tyr)	NC_000023.10:g.76938346G>T	VUS	1 lab	4d652c89dd
20:61981098 CHRNA4 G>A	20	61981098	61981098	G	A	CHRNA4	c.1665C>T	NM_000744.6	NP_000735.1:p.(Pro555=)	NC_000020.10:g.61981098G>A	(Likely) benign	1 lab	4d666b36ca
12:56094948 ITGA7 G>A	12	56094948	56094948	G	A	ITGA7	c.415-10C>T	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56094948G>A	(Likely) benign	1 lab	4d681a4c27
16:2158578 PKD1 C>CGCTGGCA	16	2158578	2158591	C	CGCTGGCA	PKD1	c.6583_6589dup	NM_001009944.2	NP_001009944.2:p.(Arg2197LeufsTer67)	NC_000016.9:g.2158585_2158591dup	(Likely) pathogenic	1 lab	4d68fce760
15:43493882 EPB42 A>T	15	43493882	43493882	A	T	EPB42	c.2003+160T>A	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43493882A>T	(Likely) benign	1 lab	4d695eb7e1
15:93552494 CHD2 C>T	15	93552494	93552494	C	T	CHD2	c.4533C>T	NM_001271.4	NP_001262.3:p.(Asp1511=)	NC_000015.9:g.93552494C>T	(Likely) benign	1 lab	4d6c356cc5
8:17924612 ASAH1 AC>A	8	17924612	17924614	AC	A	ASAH1	c.382+116del	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17924614del	(Likely) benign	1 lab	4d702071c3
1:198676063 PTPRC A>C	1	198676063	198676063	A	C	PTPRC	c.886A>C	NM_002838.5	NP_002829.3:p.(Ile296Leu)	NC_000001.10:g.198676063A>C	(Likely) benign	1 lab	4d72747e7b
2:166898865 SCN1A C>A	2	166898865	166898865	C	A	SCN1A	c.2113G>T	NM_001165963.3	NP_001159435.1:p.(Glu705Ter)	NC_000002.11:g.166898865C>A	(Likely) pathogenic	1 lab	4d75a5e372
5:178419288 GRM6 C>T	5	178419288	178419288	C	T	GRM6	c.505-204G>A	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178419288C>T	(Likely) benign	1 lab	ceedeea03c
4:187005895 TLR3 C>T	4	187005895	187005895	C	T	TLR3	c.2583C>T	NM_003265.2	NP_003256.1:p.(Asn861=)	NC_000004.11:g.187005895C>T	(Likely) benign	1 lab	4d77a2f98d
20:8678457 PLCB1 A>G	20	8678457	8678457	A	G	PLCB1	c.1167+27A>G	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8678457A>G	(Likely) benign	1 lab	4d7ba88c3d
9:77473573 TRPM6 T>G	9	77473573	77473573	T	G	TRPM6	c.113+12A>C	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77473573T>G	(Likely) benign	1 lab	4d7c6ee4b5
19:1619854 TCF3 TGGAA>T	19	1619854	1619860	TGGAA	T	TCF3	c.1094-6_1094-3del	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619857_1619860del	VUS	1 lab	ceee59d31b
2:109371606 RANBP2 G>C	2	109371606	109371606	G	C	RANBP2	c.2383-26G>C	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109371606G>C	(Likely) benign	1 lab	4d8132cf4e
9:711390 KANK1 C>G	9	711390	711390	C	G	KANK1	c.624C>G	NM_015158.4	NP_055973.2:p.(Ala208=)	NC_000009.11:g.711390C>G	(Likely) benign	1 lab	4d82c91f06
7:128496685 FLNC C>T	7	128496685	128496685	C	T	FLNC	c.7365C>T	NM_001458.4	NP_001449.3:p.(Tyr2455=)	NC_000007.13:g.128496685C>T	(Likely) benign	1 lab	4d84810ddd
2:152711725 CACNB4 A>C	2	152711725	152711725	A	C	CACNB4	c.918+13T>G	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152711725A>C	(Likely) benign	1 lab	4d85a4c14e
2:87016883 CD8A C>G	2	87016883	87016883	C	G	CD8A	c.404-10G>C	NM_001768.6	NP_001759.3:p.?	NC_000002.11:g.87016883C>G	(Likely) benign	1 lab	4d86ade858
17:78166436 CARD14 G>A	17	78166436	78166436	G	A	CARD14	c.1356+18G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78166436G>A	(Likely) benign	1 lab	4d8e16f6f3
14:65270214 SPTB CT>C	14	65270214	65270216	CT	C	SPTB	c.474+110del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65270216del	(Likely) benign	1 lab	4d9101338d
5:169412945 DOCK2 C>G	5	169412945	169412945	C	G	DOCK2	c.2993+19C>G	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169412945C>G	(Likely) benign	1 lab	4d92d148fc
8:143994266 CYP11B2 A>G	8	143994266	143994266	A	G	CYP11B2	c.1157T>C	NM_000498.3	NP_000489.3:p.(Val386Ala)	NC_000008.10:g.143994266A>G	(Likely) benign	1 lab	4d933a32c5
2:217340183 SMARCAL1 C>T	2	217340183	217340183	C	T	SMARCAL1	c.2427+9C>T	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217340183C>T	(Likely) benign	1 lab	4d93ddd6ae
6:29911228 HLA-A A>T	6	29911228	29911228	A	T	HLA-A	c.527A>T	NM_002116.8	NP_002107.3:p.(Glu176Val)	NC_000006.11:g.29911228A>T	(Likely) benign	1 lab	cef2ea4242
7:128484053 FLNC C>G	7	128484053	128484053	C	G	FLNC	c.2930-5C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128484053C>G	VUS	1 lab	4da1052191
1:16261256 SPEN A>G	1	16261256	16261256	A	G	SPEN	c.8521A>G	NM_015001.3	NP_055816.2:p.(Ser2841Gly)	NC_000001.10:g.16261256A>G	VUS	1 lab	cef33b21ef
X:119678034 CUL4B G>A	X	119678034	119678034	G	A	CUL4B	c.1162C>T	NM_003588.4	NP_003579.3:p.(Arg388Ter)	NC_000023.10:g.119678034G>A	(Likely) pathogenic	1 lab	cef410ef88
10:16975302 CUBN C>T	10	16975302	16975302	C	T	CUBN	c.5927-19G>A	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16975302C>T	(Likely) benign	1 lab	4db48507ca
1:45797165 MUTYH C>T	1	45797165	45797165	C	T	MUTYH	c.1250G>A	NM_001128425.2	NP_001121897.1:p.(Arg417His)	NC_000001.10:g.45797165C>T	(Likely) benign	1 lab	cef720ff7b
1:47882425 FOXE3 G>A	1	47882425	47882425	G	A	FOXE3	c.438G>A	NM_012186.3	NP_036318.1:p.(Thr146=)	NC_000001.10:g.47882425G>A	(Likely) benign	1 lab	4db69c35cf
11:32449540 WT1 G>A	11	32449540	32449540	G	A	WT1				NC_000011.9:g.32449540G>A	(Likely) benign	1 lab	4db74315e6
21:38878450 DYRK1A C>T	21	38878450	38878450	C	T	DYRK1A	c.1595C>T	NM_001396.4	NP_001387.2:p.(Thr532Met)	NC_000021.8:g.38878450C>T	(Likely) benign	1 lab	4db8895f72
2:189931144 COL5A2 A>G	2	189931144	189931144	A	G	COL5A2	c.1535T>C	NM_000393.5	NP_000384.2:p.(Val512Ala)	NC_000002.11:g.189931144A>G	(Likely) benign	1 lab	4db8d0bc7c
19:18193060 IL12RB1 G>A	19	18193060	18193060	G	A	IL12RB1	c.139C>T	NM_005535.1	NP_005526.1:p.(Pro47Ser)	NC_000019.9:g.18193060G>A	(Likely) benign	1 lab	4db8fbc927
X:99596838 PCDH19 G>T	X	99596838	99596838	G	T	PCDH19	c.2848+63C>A	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99596838G>T	(Likely) benign	1 lab	4dc0b606e6
14:104026396 BAG5 A>T	14	104026396	104026396	A	T	BAG5	c.1229T>A	NM_001015049.3	NP_001015049.1:p.(Val410Asp)	NC_000014.8:g.104026396A>T	(Likely) pathogenic	1 lab	4dc7e29ca6
12:49424067 KMT2D C>T	12	49424067	49424067	C	T	KMT2D	c.13995G>A	NM_003482.3	NP_003473.3:p.(Leu4665=)	NC_000012.11:g.49424067C>T	(Likely) benign	1 lab	4dc8f12151
14:99737518 BCL11B G>T	14	99737518	99737518	G	T	BCL11B	c.38C>A	NM_138576.4	NP_612808.1:p.(Ser13Tyr)	NC_000014.8:g.99737518G>T	VUS	1 lab	cef8906d69
4:981743 SLC26A1 C>T	4	981743	981743	C	T	SLC26A1	c.*878G>A	NM_213613.4	NP_998778.1:p.?	NC_000004.11:g.981743C>T	(Likely) benign	1 lab	4dcce18029
2:44053598 ABCG5 C>T	2	44053598	44053598	C	T	ABCG5	c.697G>A	NM_022436.3	NP_071881.1:p.(Val233Ile)	NC_000002.11:g.44053598C>T	(Likely) benign	1 lab	4dcea70334
12:6443265 TNFRSF1A C>T	12	6443265	6443265	C	T	TNFRSF1A	c.185G>A	NM_001065.3	NP_001056.1:p.(Cys62Tyr)	NC_000012.11:g.6443265C>T	(Likely) pathogenic	1 lab	4dd2a3ea59
2:238269819 COL6A3 T>C	2	238269819	238269819	T	C	COL6A3	c.6157-2A>G	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238269819T>C	(Likely) pathogenic	1 lab	4dd3adde34
17:42334652 SLC4A1 A>G	17	42334652	42334652	A	G	SLC4A1	c.1626+66T>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42334652A>G	(Likely) benign	1 lab	4dd4323662
11:47367745 MYBPC3 A>G	11	47367745	47367745	A	G	MYBPC3	c.1090+13T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367745A>G	(Likely) benign	1 lab	4dd70a0579
5:65344532 ERBIN T>C	5	65344532	65344532	T	C	ERBIN	c.1826T>C	NM_001253697.2	NP_001240626.1:p.(Met609Thr)	NC_000005.9:g.65344532T>C	(Likely) benign	1 lab	4dda0eb025
20:6096537 FERMT1 C>T	20	6096537	6096537	C	T	FERMT1	c.306G>A	NM_017671.5	NP_060141.3:p.(Pro102=)	NC_000020.10:g.6096537C>T	(Likely) benign	1 lab	4de0c016dc
15:93470454 CHD2 G>A	15	93470454	93470454	G	A	CHD2	c.295-20G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93470454G>A	(Likely) benign	1 lab	4de24499e6
6:31915564 CFB T>C	6	31915564	31915564	T	C	CFB	c.704T>C	NM_001710.5	NP_001701.2:p.(Leu235Pro)	NC_000006.11:g.31915564T>C	VUS	1 lab	4de2f0c331
14:32142755 NUBPL C>T	14	32142755	32142755	C	T	NUBPL	c.488C>T	NM_025152.3	NP_079428.2:p.(Ser163Leu)	NC_000014.8:g.32142755C>T	VUS	1 lab	4de6c576f9
9:108363499 FKTN T>C	9	108363499	108363499	T	C	FKTN	c.170T>C	NM_001351497.2	NP_001338426.1:p.(Leu57Pro)	NC_000009.11:g.108363499T>C	VUS	1 lab	4de9f0d7a9
20:43629842 STK4 G>A	20	43629842	43629842	G	A	STK4	c.995G>A	NM_006282.5	NP_006273.1:p.(Arg332Gln)	NC_000020.10:g.43629842G>A	VUS	1 lab	cef8a16100
15:77329410 PSTPIP1 G>A	15	77329410	77329410	G	A	PSTPIP1	c.1144G>A	NM_003978.3	NP_003969.2:p.(Ala382Thr)	NC_000015.9:g.77329410G>A	(Likely) benign	1 lab	4df0fc9941
2:71190405 ATP6V1B1 C>T	2	71190405	71190405	C	T	ATP6V1B1	c.1023C>T	NM_001692.4	NP_001683.2:p.(Ser341=)	NC_000002.11:g.71190405C>T	(Likely) benign	1 lab	4df14be968
17:40946808 WNK4 C>A	17	40946808	40946808	C	A	WNK4	c.2369C>A	NM_032387.5	NP_115763.2:p.(Thr790Asn)	NC_000017.10:g.40946808C>A	(Likely) benign	1 lab	4df863b286
15:26828490 GABRB3 T>C	15	26828490	26828490	T	C	GABRB3	c.533A>G	NM_000814.6	NP_000805.1:p.(Glu178Gly)	NC_000015.9:g.26828490T>C	(Likely) pathogenic	1 lab	4dfa63ee76
7:128480901 FLNC C>T	7	128480901	128480901	C	T	FLNC	c.1690C>T	NM_001458.4	NP_001449.3:p.(Gln564Ter)	NC_000007.13:g.128480901C>T	(Likely) pathogenic	1 lab	4df6d3091d
19:38954107 RYR1 G>A	19	38954107	38954107	G	A	RYR1	c.2622G>A	NM_000540.2	NP_000531.2:p.(Ala874=)	NC_000019.9:g.38954107G>A	(Likely) benign	1 lab	4dfdeeaab3
16:9891996 GRIN2A T>C	16	9891996	9891996	T	C	GRIN2A	c.2356+138A>G	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9891996T>C	(Likely) benign	1 lab	4e01a7b36b
6:151766807 RMND1 C>T	6	151766807	151766807	C	T	RMND1	c.140G>A	NM_017909.4	NP_060379.2:p.(Arg47His)	NC_000006.11:g.151766807C>T	(Likely) benign	1 lab	4e0743ca9e
16:3306546 MEFV C>T	16	3306546	3306546	C	T	MEFV	c.42G>A	NM_000243.2	NP_000234.1:p.(Glu14=)	NC_000016.9:g.3306546C>T	(Likely) benign	1 lab	4e2669345b
4:79187983 FRAS1 T>G	4	79187983	79187983	T	G	FRAS1	c.688-5T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79187983T>G	VUS	1 lab	4e0b8378b5
14:105180601 INF2 C>T	14	105180601	105180601	C	T	INF2	c.3102C>T	NM_022489.3	NP_071934.3:p.(Pro1034=)	NC_000014.8:g.105180601C>T	(Likely) benign	1 lab	4e0bb0344f
20:8637875 PLCB1 A>T	20	8637875	8637875	A	T	PLCB1	c.639A>T	NM_015192.4	NP_056007.1:p.(Arg213Ser)	NC_000020.10:g.8637875A>T	(Likely) benign	1 lab	4e0bce429c
2:131350606 CFC1 G>A	2	131350606	131350606	G	A	CFC1	c.516C>T	NM_032545.3	NP_115934.1:p.(Ala172=)	NC_000002.11:g.131350606G>A	(Likely) benign	1 lab	4e10eca0ff
9:138660716 KCNT1 C>T	9	138660716	138660716	C	T	KCNT1	c.1443C>T	NM_020822.2	NP_065873.2:p.(Phe481=)	NC_000009.11:g.138660716C>T	(Likely) benign	1 lab	4e125fec9e
1:43903586 SZT2 G>GA	1	43903586	43903587	G	GA	SZT2	c.6337+14dup	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43903587dup	(Likely) benign	1 lab	4e14d61c9e
1:247587677 NLRP3 T>A	1	247587677	247587677	T	A	NLRP3	c.926T>A	NM_001243133.2	NP_001230062.1:p.(Phe309Tyr)	NC_000001.10:g.247587677T>A	(Likely) pathogenic	1 lab	4e160f7d00
9:116151501 ALAD T>C	9	116151501	116151501	T	C	ALAD	c.802-115A>G	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116151501T>C	(Likely) benign	1 lab	4e1cfe8470
14:24633804 IRF9 A>G	14	24633804	24633804	A	G	IRF9	c.650-19A>G	NM_006084.5	NP_006075.3:p.?	NC_000014.8:g.24633804A>G	(Likely) benign	1 lab	4e1eefbf7b
11:128781723 KCNJ5 C>A	11	128781723	128781723	C	A	KCNJ5	c.555C>A	NM_000890.3	NP_000881.3:p.(Cys185Ter)	NC_000011.9:g.128781723C>A	VUS	1 lab	4e282fdbee
21:38865318 DYRK1A G>A	21	38865318	38865318	G	A	DYRK1A	c.952-1G>A	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38865318G>A	(Likely) pathogenic	1 lab	4e2ca23eb4
16:53730187 RPGRIP1L T>C	16	53730187	53730187	T	C	RPGRIP1L	c.106A>G	NM_015272.5	NP_056087.2:p.(Met36Val)	NC_000016.9:g.53730187T>C	(Likely) benign	1 lab	4e316ca8c1
14:65268167 SPTB C>T	14	65268167	65268167	C	T	SPTB	c.648-49G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268167C>T	(Likely) benign	1 lab	4e3700efb9
16:2121933 TSC2 C>T	16	2121933	2121933	C	T	TSC2	c.2095C>T	NM_000548.3	NP_000539.2:p.(Gln699Ter)	NC_000016.9:g.2121933C>T	(Likely) pathogenic	1 lab	4e373f9a55
8:100568593 VPS13B C>T	8	100568593	100568593	C	T	VPS13B	c.4821-85C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100568593C>T	(Likely) benign	1 lab	4e3d29c336
15:80450512 FAH G>C	15	80450512	80450512	G	C	FAH	c.192G>C	NM_000137.4	NP_000128.1:p.(Gln64His)	NC_000015.9:g.80450512G>C	(Likely) pathogenic	1 lab	4e3ed6b4e6
2:202050726 CASP10 C>A	2	202050726	202050726	C	A	CASP10	c.226C>A	NM_032977.3	NP_116759.2:p.(Pro76Thr)	NC_000002.11:g.202050726C>A	(Likely) benign	1 lab	4e427af2fd
2:58453843 FANCL G>GA	2	58453843	58453855	G	GA	FANCL	c.273+19dup	NM_018062.3	NP_060532.2:p.?	NC_000002.11:g.58453855dup	(Likely) benign	1 lab	4e45556d52
2:216235029 FN1 C>T	2	216235029	216235029	C	T	FN1	c.6841G>A	NM_212482.2	NP_997647.1:p.(Val2281Met)	NC_000002.11:g.216235029C>T	(Likely) benign	1 lab	4e4e33f9b4
11:117859210 IL10RA C>G	11	117859210	117859210	C	G	IL10RA	c.181C>G	NM_001558.3	NP_001549.2:p.(Leu61Val)	NC_000011.9:g.117859210C>G	(Likely) benign	1 lab	4e4ff84155
12:133201369 POLE G>A	12	133201369	133201369	G	A	POLE	c.6775C>T	NM_006231.4	NP_006222.2:p.(Arg2259Trp)	NC_000012.11:g.133201369G>A	VUS	1 lab	cef9d0f202
11:47359095 MYBPC3 G>C	11	47359095	47359095	G	C	MYBPC3	c.2449C>G	NM_000256.3	NP_000247.2:p.(Arg817Gly)	NC_000011.9:g.47359095G>C	VUS	1 lab	4e512da2c4
7:135285617 NUP205 G>T	7	135285617	135285617	G	T	NUP205	c.2275-1G>T	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135285617G>T	(Likely) pathogenic	1 lab	4e5239b85f
8:48734235 PRKDC C>T	8	48734235	48734235	C	T	PRKDC	c.9041G>A	NM_006904.6	NP_008835.5:p.(Cys3014Tyr)	NC_000008.10:g.48734235C>T	(Likely) benign	1 lab	4e548b711b
17:5424924 NLRP1 C>G	17	5424924	5424924	C	G	NLRP1	c.3703G>C	NM_033004.4	NP_127497.1:p.(Val1235Leu)	NC_000017.10:g.5424924C>G	(Likely) benign	1 lab	4e54d9ae81
2:228564032 SLC19A3 G>C	2	228564032	228564032	G	C	SLC19A3	c.399C>G	NM_025243.4	NP_079519.1:p.(Pro133=)	NC_000002.11:g.228564032G>C	(Likely) benign	1 lab	4e5809c82c
15:63354431 TPM1 C>A	15	63354431	63354431	C	A	TPM1	c.549C>A	NM_001330351.2	NP_001317280.1:p.(Asp183Glu)	NC_000015.9:g.63354431C>A	VUS	1 lab	4e5af6a4ae
8:144992706 PLEC C>G	8	144992706	144992706	C	G	PLEC	c.11694G>C	NM_201380.4	NP_958782.1:p.(Leu3898=)	NC_000008.10:g.144992706C>G	(Likely) benign	1 lab	4e5c962404
2:166868710 SCN1A A>C	2	166868710	166868710	A	C	SCN1A	c.3788T>G	NM_001165963.3	NP_001159435.1:p.(Phe1263Cys)	NC_000002.11:g.166868710A>C	(Likely) pathogenic	1 lab	4e5e6ab6dd
X:22056656 PHEX G>GT	X	22056656	22056657	G	GT	PHEX	c.187+2dup	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22056657dup	(Likely) pathogenic	1 lab	4e61e37289
1:158615217 SPTA1 T>C	1	158615217	158615217	T	C	SPTA1	c.3997-42A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158615217T>C	(Likely) benign	1 lab	4e675fd3c9
21:46319066 ITGB2 C>T	21	46319066	46319066	C	T	ITGB2	c.909G>A	NM_000211.3	NP_000202.2:p.(Ser303=)	NC_000021.8:g.46319066C>T	(Likely) benign	1 lab	4e6c2d3a09
14:76425035 TGFB3 G>A	14	76425035	76425035	G	A	TGFB3	c.*495C>T	NM_003239.2	NP_003230.1:p.?	NC_000014.8:g.76425035G>A	VUS	1 lab	4e6e277ff2
15:59553703 MYO1E A>G	15	59553703	59553703	A	G	MYO1E	c.153T>C	NM_004998.3	NP_004989.2:p.(Tyr51=)	NC_000015.9:g.59553703A>G	(Likely) benign	1 lab	4e6f60f1d7
17:62026828 SCN4A G>A	17	62026828	62026828	G	A	SCN4A	c.2914C>T	NM_000334.4	NP_000325.4:p.(Pro972Ser)	NC_000017.10:g.62026828G>A	VUS	1 lab	cf03f99b1f
3:192053131 FGF12 C>T	3	192053131	192053131	C	T	FGF12	c.414+19G>A	NM_021032.4	NP_066360.1:p.?	NC_000003.11:g.192053131C>T	(Likely) benign	1 lab	4e717a5889
7:91843966 KRIT1 A>G	7	91843966	91843966	A	G	KRIT1	c.1689T>C	NM_194456.1	NP_919438.1:p.(Tyr563=)	NC_000007.13:g.91843966A>G	(Likely) benign	1 lab	4e7388527a
9:138662960 KCNT1 G>A	9	138662960	138662960	G	A	KCNT1	c.2008+19G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662960G>A	(Likely) benign	1 lab	4e75a20027
18:56383163 MALT1 A>G	18	56383163	56383163	A	G	MALT1	c.986-4A>G	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56383163A>G	(Likely) benign	1 lab	4e773fd799
1:154600378 ADAR A>C	1	154600378	154600378	A	C	ADAR	c.-918T>G	NM_001025107.3	NP_001020278.1:p.?	NC_000001.10:g.154600378A>C	(Likely) benign	1 lab	4e791ff420
3:9985162 CRELD1 G>A	3	9985162	9985162	G	A	CRELD1	c.1011G>A	NM_015513.6	NP_056328.3:p.(Lys337=)	NC_000003.11:g.9985162G>A	(Likely) benign	1 lab	4e7b870eca
4:79385803 FRAS1 G>A	4	79385803	79385803	G	A	FRAS1	c.7029+66G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79385803G>A	(Likely) benign	1 lab	4fea42cb1d
15:35083508 ACTC1 T>TCACACACACACA	15	35083508	35083554	T	TCACACACACACA	ACTC1	c.809-24_809-13dup	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083543_35083554dup	(Likely) benign	1 lab	4e7bcd56a9
8:61725221 CHD7 CA>C	8	61725221	61725238	CA	C	CHD7	c.2499-3708del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61725238del	(Likely) benign	1 lab	4e7fc7bf3a
6:32946852 BRD2 TTG>T	6	32946852	32946855	TTG	T	BRD2	c.1841+689_1841+690del	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32946854_32946855del	(Likely) benign	1 lab	4e839fa347
3:3189773 TRNT1 C>T	3	3189773	3189773	C	T	TRNT1	c.1240C>T	NM_182916.3	NP_886552.3:p.(Gln414Ter)	NC_000003.11:g.3189773C>T	(Likely) pathogenic	1 lab	4e872944eb
6:133846363 EYA4 G>T	6	133846363	133846363	G	T	EYA4	c.1810G>T	NM_004100.5	NP_004091.3:p.(Gly604Cys)	NC_000006.11:g.133846363G>T	VUS	1 lab	4e88c90f6c
2:166900072 SCN1A C>T	2	166900072	166900072	C	T	SCN1A	c.2043+107G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166900072C>T	(Likely) benign	1 lab	4e902166bc
11:45970941 MISSING G>A	11	45970941	45970941	G	A	MISSING				NC_000011.9:g.45970941G>A	(Likely) benign	1 lab	4e9cb42844
3:97508895 ARL6 T>TTG	3	97508895	97508935	T	TTG	ARL6	c.480-1681_480-1680dup	NM_177976.3	NP_816931.1:p.?	NC_000003.11:g.97508934_97508935dup	(Likely) benign	1 lab	4e9fa6626f
5:161322777 GABRA1 A>G	5	161322777	161322777	A	G	GABRA1	c.962A>G	NM_000806.5	NP_000797.2:p.(Tyr321Cys)	NC_000005.9:g.161322777A>G	(Likely) pathogenic	1 lab	4ea3311b01
12:111855905 SH2B3 C>A	12	111855905	111855905	C	A	SH2B3	c.-27-18C>A	NM_005475.2	NP_005466.1:p.?	NC_000012.11:g.111855905C>A	(Likely) benign	1 lab	4ea95feceb
14:20943124 PNP G>GT	14	20943124	20943132	G	GT	PNP	c.461+25dup	NM_000270.3	NP_000261.2:p.?	NC_000014.8:g.20943132dup	(Likely) benign	1 lab	4efcb0959b
10:15719604 ITGA8 A>G	10	15719604	15719604	A	G	ITGA8	c.663T>C	NM_003638.3	NP_003629.2:p.(Ser221=)	NC_000010.10:g.15719604A>G	(Likely) benign	1 lab	4eb1f9591f
12:49428267 KMT2D G>A	12	49428267	49428267	G	A	KMT2D	c.10441-8C>T	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49428267G>A	(Likely) benign	1 lab	4eb563637e
X:140993229 MAGEC1 T>G	X	140993229	140993229	T	G	MAGEC1	c.39T>G	NM_005462.5	NP_005453.2:p.(Ser13Arg)	NC_000023.10:g.140993229T>G	(Likely) benign	1 lab	4eb615637b
17:5463280 NLRP1 T>C	17	5463280	5463280	T	C	NLRP1	c.736A>G	NM_033004.4	NP_127497.1:p.(Thr246Ala)	NC_000017.10:g.5463280T>C	(Likely) benign	1 lab	4eba30acf0
X:100630157 BTK T>C	X	100630157	100630157	T	C	BTK	c.116A>G	NM_000061.2	NP_000052.1:p.(Tyr39Cys)	NC_000023.10:g.100630157T>C	VUS	1 lab	4ebbfba828
12:25368593 KRAS AT>A	12	25368593	25368606	AT	A	KRAS	c.451-5749del	NM_004985.5	NP_004976.2:p.?	NC_000012.11:g.25368606del	(Likely) benign	1 lab	4ec0d80bc8
12:6442919 TNFRSF1A G>C	12	6442919	6442919	G	C	TNFRSF1A	c.306C>G	NM_001065.3	NP_001056.1:p.(Cys102Trp)	NC_000012.11:g.6442919G>C	(Likely) pathogenic	1 lab	4ec100bd18
7:154593165 DPP6 C>G	7	154593165	154593165	C	G	DPP6	c.1400C>G	NM_130797.4	NP_570629.2:p.(Ser467Trp)	NC_000007.13:g.154593165C>G	VUS	1 lab	4ec6cca85b
2:169842746 ABCB11 T>C	2	169842746	169842746	T	C	ABCB11	c.957A>G	NM_003742.4	NP_003733.2:p.(Gly319=)	NC_000002.11:g.169842746T>C	(Likely) benign	1 lab	4eccce3e79
18:52988757 TCF4 T>C	18	52988757	52988757	T	C	TCF4	c.549+28833A>G	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52988757T>C	(Likely) benign	1 lab	4ed53d896d
16:2141870 PKD1 C>G	16	2141870	2141870	C	G	PKD1	c.11449G>C	NM_001009944.2	NP_001009944.2:p.(Gly3817Arg)	NC_000016.9:g.2141870C>G	VUS	1 lab	4ed66ac6fb
18:47432975 MYO5B C>T	18	47432975	47432975	C	T	MYO5B	c.2228G>A	NM_001080467.3	NP_001073936.1:p.(Arg743His)	NC_000018.9:g.47432975C>T	(Likely) benign	1 lab	4ed772beb8
15:71839832 THSD4 A>G	15	71839832	71839832	A	G	THSD4	c.72+12A>G	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.71839832A>G	(Likely) benign	1 lab	4ee598805f
12:110034291 MVK G>C	12	110034291	110034291	G	C	MVK	c.1100G>C	NM_000431.2	NP_000422.1:p.(Cys367Ser)	NC_000012.11:g.110034291G>C	VUS	1 lab	4eebe2d098
9:101552633 ANKS6 G>A	9	101552633	101552633	G	A	ANKS6	c.615C>T	NM_173551.5	NP_775822.3:p.(Ala205=)	NC_000009.11:g.101552633G>A	(Likely) benign	1 lab	4ef10a155d
7:158734623 DYNC2I1 G>GT	7	158734623	158734625	G	GT	DYNC2I1	c.2788dup	NM_018051.5	NP_060521.4:p.(Ser930PhefsTer81)	NC_000007.13:g.158734625dup	(Likely) pathogenic	1 lab	4ef523f18c
19:7708159 STXBP2 G>A	19	7708159	7708159	G	A	STXBP2	c.1140+28G>A	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7708159G>A	(Likely) benign	1 lab	4ef785f769
3:45870126 LZTFL1 T>C	3	45870126	45870126	T	C	LZTFL1	c.601-19A>G	NM_020347.4	NP_065080.1:p.?	NC_000003.11:g.45870126T>C	(Likely) benign	1 lab	4ef7c94246
16:3304483 MEFV C>T	16	3304483	3304483	C	T	MEFV	c.585G>A	NM_000243.2	NP_000234.1:p.(Glu195=)	NC_000016.9:g.3304483C>T	(Likely) benign	1 lab	4eff524236
1:158584103 SPTA1 G>GA	1	158584103	158584115	G	GA	SPTA1	c.6789-8dup	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158584115dup	(Likely) benign	1 lab	4f01b54af7
7:128488727 FLNC G>A	7	128488727	128488727	G	A	FLNC	c.4693G>A	NM_001458.4	NP_001449.3:p.(Asp1565Asn)	NC_000007.13:g.128488727G>A	VUS	1 lab	4f045795ad
2:228111420 COL4A3 G>T	2	228111420	228111420	G	T	COL4A3	c.407G>T	NM_000091.4	NP_000082.2:p.(Gly136Val)	NC_000002.11:g.228111420G>T	(Likely) pathogenic	1 lab	4f0c869d46
22:32253378 DEPDC5 C>A	22	32253378	32253378	C	A	DEPDC5	c.3156-53C>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32253378C>A	(Likely) benign	1 lab	4f0d11f5e1
X:9621715 TBL1X G>A	X	9621715	9621715	G	A	TBL1X	c.89G>A	NM_005647.4	NP_005638.1:p.(Arg30His)	NC_000023.10:g.9621715G>A	(Likely) benign	1 lab	4f0e142194
7:158677309 DYNC2I1 C>T	7	158677309	158677309	C	T	DYNC2I1	c.934C>T	NM_018051.5	NP_060521.4:p.(Gln312Ter)	NC_000007.13:g.158677309C>T	(Likely) pathogenic	1 lab	4f0f91c8c1
6:32945887 BRD2 GT>G	6	32945887	32945895	GT	G	BRD2	c.1579-8del	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32945895del	(Likely) benign	1 lab	4f16e77993
16:2168267 PKD1 AAAG>A	16	2168267	2168270	AAAG	A	PKD1	c.723_725del	NM_001009944.3	NP_001009944.3:p.(Phe242del)	NC_000016.9:g.2168268_2168270del	(Likely) benign	1 lab	4f22d31935
12:31255232 DDX11 C>CCAGGTGCATCCAGGTGCGGGCGTCATGCTGGGCTTGGGTCTGAGATCGTGTGGGGGTGGCAGCTGGAAACGTTGTGGGTGTCATCCAAGTTTTGGCTCAGCAACTCAGCGTCTGGGTTTCTCCTA	12	31255232	31255361	C	CCAGGTGCATCCAGGTGCGGGCGTCATGCTGGGCTTGGGTCTGAGATCGTGTGGGGGTGGCAGCTGGAAACGTTGTGGGTGTCATCCAAGTTTTGGCTCAGCAACTCAGCGTCTGGGTTTCTCCTA	DDX11	c.2263_2272dup	NM_030653.4	NP_085911.2:p.(Ala758ValfsTer27)	NC_000012.11:g.31255237_31255361dup	(Likely) pathogenic	1 lab	4f23940723
7:50450356 IKZF1 C>T	7	50450356	50450356	C	T	IKZF1	c.540C>T	NM_001220765.3	NP_001207694.1:p.(Tyr180=)	NC_000007.13:g.50450356C>T	(Likely) benign	1 lab	4f2cce9462
17:26116645 NOS2 G>A	17	26116645	26116645	G	A	NOS2	c.180C>T	NM_000625.4	NP_000616.3:p.(Leu60=)	NC_000017.10:g.26116645G>A	(Likely) benign	1 lab	4f3104e674
5:161510464 GABRG2 A>G	5	161510464	161510464	A	G	GABRG2				NC_000005.9:g.161510464A>G	(Likely) benign	1 lab	5054d11a11
14:65252733 SPTB C>A	14	65252733	65252733	C	A	SPTB	c.3562-64G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252733C>A	(Likely) benign	1 lab	4f3a038a15
10:72633135 SGPL1 T>C	10	72633135	72633135	T	C	SGPL1	c.1087T>C	NM_003901.4	NP_003892.2:p.(Leu363=)	NC_000010.10:g.72633135T>C	(Likely) benign	1 lab	4f3d80f5a1
2:9658388 ADAM17 CAAAAA>C	2	9658388	9658410	CAAAAA	C	ADAM17	c.958-17_958-13del	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658406_9658410del	(Likely) benign	1 lab	4f3f5a281d
17:10430389 MYH2 A>G	17	10430389	10430389	A	G	MYH2	c.3872-16T>C	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10430389A>G	(Likely) benign	1 lab	4f473e7373
5:79026168 CMYA5 TAGA>T	5	79026168	79026177	TAGA	T	CMYA5	c.1587_1589del	NM_153610.5	NP_705838.3:p.(Glu530del)	NC_000005.9:g.79026175_79026177del	VUS	1 lab	4f4d810304
15:93487549 CHD2 A>G	15	93487549	93487549	A	G	CHD2	c.1053-96A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93487549A>G	(Likely) benign	1 lab	4f5114a12e
6:7572153 DSP A>T	6	7572153	7572153	A	T	DSP	c.1982A>T	NM_004415.2	NP_004406.2:p.(Asn661Ile)	NC_000006.11:g.7572153A>T	VUS	1 lab	4f587240ef
2:166810161 TTC21B G>GCCCGCTCACCCGCTCA	2	166810161	166810195	G	GCCCGCTCACCCGCTCA	TTC21B	c.21+18_21+33dup	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166810180_166810195dup	(Likely) benign	1 lab	4f5b8812a2
14:103394753 AMN T>C	14	103394753	103394753	T	C	AMN	c.208-10T>C	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103394753T>C	(Likely) benign	1 lab	4f604c7086
11:108115637 ATM T>C	11	108115637	108115637	T	C	ATM	c.785T>C	NM_000051.3	NP_000042.3:p.(Leu262Ser)	NC_000011.9:g.108115637T>C	VUS	1 lab	4f62c09df3
2:189929308 COL5A2 C>T	2	189929308	189929308	C	T	COL5A2	c.1691G>A	NM_000393.5	NP_000384.2:p.(Gly564Glu)	NC_000002.11:g.189929308C>T	(Likely) pathogenic	1 lab	4f666e481d
19:13318061 CACNA1A G>A	19	13318061	13318061	G	A	CACNA1A	c.*66C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13318061G>A	(Likely) benign	1 lab	4f6c57ee39
8:41591643 ANK1 C>T	8	41591643	41591643	C	T	ANK1	c.229-56G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41591643C>T	(Likely) benign	1 lab	4f70916dbc
15:31197192 FAN1 T>C	15	31197192	31197192	T	C	FAN1	c.326T>C	NM_014967.5	NP_055782.3:p.(Leu109Ser)	NC_000015.9:g.31197192T>C	(Likely) benign	1 lab	4f81ab094d
8:41548003 ANK1 T>C	8	41548003	41548003	T	C	ANK1	c.3973A>G	NM_000037.4	NP_000028.3:p.(Met1325Val)	NC_000008.10:g.41548003T>C	(Likely) benign	1 lab	4f83024ff5
2:232127007 ARMC9 T>G	2	232127007	232127007	T	G	ARMC9	c.1027-12T>G	NM_025139.6	NP_079415.4:p.?	NC_000002.11:g.232127007T>G	(Likely) benign	1 lab	4f868b7be2
22:32162665 DEPDC5 AT>A	22	32162665	32162673	AT	A	DEPDC5	c.363+19del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32162673del	(Likely) benign	1 lab	4f878cf1c5
13:52532466 ATP7B C>T	13	52532466	52532466	C	T	ATP7B	c.2336G>A	NM_000053.4	NP_000044.2:p.(Trp779Ter)	NC_000013.10:g.52532466C>T	(Likely) pathogenic	1 lab	4f9b33e832
5:89938423 ADGRV1 G>A	5	89938423	89938423	G	A	ADGRV1	c.2241-30G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938423G>A	(Likely) benign	1 lab	4f9b3aed7d
X:154091421 F8 G>A	X	154091421	154091421	G	A	F8	c.6511C>T	NM_000132.3	NP_000123.1:p.(His2171Tyr)	NC_000023.10:g.154091421G>A	(Likely) pathogenic	1 lab	4f9def6677
6:52319056 EFHC1 G>A	6	52319056	52319056	G	A	EFHC1	c.887G>A	NM_018100.4	NP_060570.2:p.(Arg296His)	NC_000006.11:g.52319056G>A	(Likely) benign	1 lab	4f9f9cbabb
17:72791257 SLC38A12 A>G	17	72791257	72791257	A	G	SLC38A12	c.527+7A>G	NM_017728.4	NP_060198.3:p.?	NC_000017.10:g.72791257A>G	(Likely) benign	1 lab	4fa30e0065
X:153171451 AVPR2 G>T	X	153171451	153171451	G	T	AVPR2	c.491G>T	NM_000054.6	NP_000045.1:p.(Trp164Leu)	NC_000023.10:g.153171451G>T	(Likely) pathogenic	1 lab	4fa5a7690e
9:131367760 SPTAN1 C>T	9	131367760	131367760	C	T	SPTAN1	c.4046+4C>T	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131367760C>T	(Likely) benign	1 lab	cf120de81d
9:123342197 CDK5RAP2 C>A	9	123342197	123342197	C	A	CDK5RAP2	c.59+1G>T	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123342197C>A	(Likely) pathogenic	1 lab	4fa755d4e0
8:61757914 CHD7 A>G	8	61757914	61757914	A	G	CHD7				NC_000008.10:g.61757914A>G	(Likely) benign	1 lab	51bcfe69b8
X:152137975 ZNF185 C>T	X	152137975	152137975	C	T	ZNF185	c.2014C>T	NM_001178106.1	NP_001171577.1:p.(Pro672Ser)	NC_000023.10:g.152137975C>T	(Likely) benign	1 lab	4fa862aa3d
14:23858718 MYH6 C>CT	14	23858718	23858719	C	CT	MYH6	c.3861dup	NM_002471.3	NP_002462.2:p.(Glu1288ArgfsTer54)	NC_000014.8:g.23858719dup	VUS	1 lab	4fab319540
18:48584840 SMAD4 T>C	18	48584840	48584840	T	C	SMAD4	c.904+14T>C	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48584840T>C	VUS	1 lab	4fac3f15e4
16:81960671 PLCG2 C>T	16	81960671	81960671	C	T	PLCG2	c.2418-16C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81960671C>T	(Likely) benign	1 lab	4fad2bb841
10:16990556 CUBN G>A	10	16990556	16990556	G	A	CUBN	c.5130C>T	NM_001081.3	NP_001072.2:p.(Ser1710=)	NC_000010.10:g.16990556G>A	(Likely) benign	1 lab	4fae3fbe44
4:114277951 ANK2 C>T	4	114277951	114277951	C	T	ANK2	c.8177C>T	NM_001148.4	NP_001139.3:p.(Thr2726Ile)	NC_000004.11:g.114277951C>T	(Likely) benign	1 lab	4fae69e58d
16:81990505 PLCG2 G>T	16	81990505	81990505	G	T	PLCG2	c.3755+21G>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81990505G>T	(Likely) benign	1 lab	50897f29d9
16:28913912 ATP2A1 G>A	16	28913912	28913912	G	A	ATP2A1	c.2536G>A	NM_173201.4	NP_775293.1:p.(Ala846Thr)	NC_000016.9:g.28913912G>A	(Likely) benign	1 lab	4fafe1ca8a
5:89943772 ADGRV1 G>GC	5	89943772	89943773	G	GC	ADGRV1	c.3289+191_3289+192insC	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89943772_89943773insC	(Likely) benign	1 lab	4fb19df13e
1:156105901 LMNA C>T	1	156105901	156105901	C	T	LMNA				NC_000001.10:g.156105901C>T	(Likely) pathogenic	1 lab	4fb613bdf6
1:115252170 NRAS T>C	1	115252170	115252170	T	C	NRAS				NC_000001.10:g.115252170T>C	(Likely) benign	1 lab	51e1493150
5:147468112 SPINK5 G>A	5	147468112	147468112	G	A	SPINK5	c.418G>A	NM_001127698.2	NP_001121170.1:p.(Gly140Arg)	NC_000005.9:g.147468112G>A	(Likely) benign	1 lab	4fba3fe141
15:93484930 CHD2 C>G	15	93484930	93484930	C	G	CHD2	c.693-122C>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93484930C>G	(Likely) benign	1 lab	4fbeb0a883
2:32460605 NLRC4 C>T	2	32460605	32460605	C	T	NLRC4	c.2647G>A	NM_021209.4	NP_067032.3:p.(Ala883Thr)	NC_000002.11:g.32460605C>T	(Likely) benign	1 lab	4fc3faea64
9:131107792 SLC27A4 G>A	9	131107792	131107792	G	A	SLC27A4	c.520G>A	NM_005094.4	NP_005085.2:p.(Ala174Thr)	NC_000009.11:g.131107792G>A	VUS	1 lab	cf13e80eb5
8:100788929 VPS13B T>A	8	100788929	100788929	T	A	VPS13B	c.7323-74T>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100788929T>A	(Likely) benign	1 lab	4fceb1804b
2:166897809 SCN1A G>A	2	166897809	166897809	G	A	SCN1A	c.2347C>T	NM_001165963.4	NP_001159435.1:p.(Leu783Phe)	NC_000002.11:g.166897809G>A	VUS	1 lab	cf1e800561
1:29379679 EPB41 G>A	1	29379679	29379679	G	A	EPB41	c.1073G>A	NM_004437.4	NP_004428.1:p.(Gly358Asp)	NC_000001.10:g.29379679G>A	(Likely) benign	1 lab	4fd033d162
2:207631566 FASTKD2 A>G	2	207631566	207631566	A	G	FASTKD2	c.149A>G	NM_001136194.1	NP_001129666.1:p.(Lys50Arg)	NC_000002.11:g.207631566A>G	(Likely) benign	1 lab	4fd62cdac4
2:216257950 FN1 A>G	2	216257950	216257950	A	G	FN1	c.3797-24T>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216257950A>G	(Likely) benign	1 lab	4fd8830c30
16:9935042 GRIN2A T>A	16	9935042	9935042	T	A	GRIN2A	c.1329-81A>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9935042T>A	(Likely) benign	1 lab	4fe1b3d1c0
17:42327923 SLC4A1 G>C	17	42327923	42327923	G	C	SLC4A1	c.2656-17C>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42327923G>C	(Likely) benign	1 lab	4fe39dd5b1
5:137206519 MYOT C>G	5	137206519	137206519	C	G	MYOT	c.179C>G	NM_006790.2	NP_006781.1:p.(Ser60Cys)	NC_000005.9:g.137206519C>G	(Likely) pathogenic	1 lab	4fe54bd2be
20:2635385 NOP56 CTCT>C	20	2635385	2635392	CTCT	C	NOP56	c.371-5_371-3del	NM_006392.4	NP_006383.2:p.?	NC_000020.10:g.2635390_2635392del	(Likely) benign	1 lab	4fe5e66bf2
22:37268372 NCF4 C>T	22	37268372	37268372	C	T	NCF4	c.532C>T	NM_013416.3	NP_038202.2:p.(Leu178=)	NC_000022.10:g.37268372C>T	(Likely) benign	1 lab	4fe5fb640e
19:3118947 GNA11 T>C	19	3118947	3118947	T	C	GNA11	c.631T>C	NM_002067.5	NP_002058.2:p.(Ser211Pro)	NC_000019.9:g.3118947T>C	(Likely) pathogenic	1 lab	4fe62d0619
20:8741070 PLCB1 T>G	20	8741070	8741070	T	G	PLCB1	c.2673T>G	NM_015192.4	NP_056007.1:p.(Pro891=)	NC_000020.10:g.8741070T>G	(Likely) benign	1 lab	4fe6f78f33
2:217005892 XRCC5 C>T	2	217005892	217005892	C	T	XRCC5	c.1343-17C>T	NM_021141.4	NP_066964.1:p.?	NC_000002.11:g.217005892C>T	(Likely) benign	1 lab	4fe7371f02
1:155263347 PKLR G>A	1	155263347	155263347	G	A	PKLR	c.1151C>T	NM_000298.6	NP_000289.1:p.(Thr384Met)	NC_000001.10:g.155263347G>A	(Likely) pathogenic	1 lab	4fea099fb2
18:47511088 MYO5B C>T	18	47511088	47511088	C	T	MYO5B	c.946G>A	NM_001080467.3	NP_001073936.1:p.(Gly316Arg)	NC_000018.9:g.47511088C>T	(Likely) pathogenic	1 lab	4fece5c11d
12:124184330 TCTN2 C>G	12	124184330	124184330	C	G	TCTN2	c.1585C>G	NM_024809.5	NP_079085.2:p.(Leu529Val)	NC_000012.11:g.124184330C>G	(Likely) benign	1 lab	4fed576791
3:196199488 RNF168 G>A	3	196199488	196199488	G	A	RNF168	c.918C>T	NM_152617.3	NP_689830.2:p.(Ala306=)	NC_000003.11:g.196199488G>A	(Likely) benign	1 lab	4feef3a592
22:21347152 LZTR1 G>A	22	21347152	21347152	G	A	LZTR1	c.1219G>A	NM_006767.4	NP_006758.2:p.(Val407Met)	NC_000022.10:g.21347152G>A	VUS	1 lab	cf1f0ab5d8
12:6442671 TNFRSF1A C>A	12	6442671	6442671	C	A	TNFRSF1A	c.334G>T	NM_001065.3	NP_001056.1:p.(Val112Leu)	NC_000012.11:g.6442671C>A	VUS	1 lab	5289ac68ba
1:11105563 MASP2 G>A	1	11105563	11105563	G	A	MASP2	c.446C>T	NM_006610.4	NP_006601.2:p.(Ala149Val)	NC_000001.10:g.11105563G>A	(Likely) benign	1 lab	4ffc2732e4
5:89940513 ADGRV1 C>A	5	89940513	89940513	C	A	ADGRV1	c.2735-10C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89940513C>A	(Likely) benign	1 lab	5001f173a2
16:2108847 TSC2 G>A	16	2108847	2108847	G	A	TSC2	c.948G>A	NM_000548.3	NP_000539.2:p.(Pro316=)	NC_000016.9:g.2108847G>A	(Likely) benign	1 lab	5002c15f2d
11:2594069 KCNQ1 G>A	11	2594069	2594069	G	A	KCNQ1	c.781-7G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2594069G>A	(Likely) pathogenic	1 lab	500413baa6
6:2890404 SERPINB9 G>A	6	2890404	2890404	G	A	SERPINB9	c.1124C>T	NM_004155.6	NP_004146.1:p.(Ser375Leu)	NC_000006.11:g.2890404G>A	VUS	1 lab	500b8132d9
X:106083436 TBC1D8B G>A	X	106083436	106083436	G	A	TBC1D8B	c.1504+8G>A	NM_017752.3	NP_060222.2:p.?	NC_000023.10:g.106083436G>A	(Likely) benign	1 lab	500c8d0996
6:32014004 TNXB G>A	6	32014004	32014004	G	A	TNXB	c.10548C>T	NM_019105.8	NP_061978.6:p.(Tyr3516=)	NC_000006.11:g.32014004G>A	(Likely) benign	1 lab	500d751661
11:1862772 TNNI2 C>T	11	1862772	1862772	C	T	TNNI2	c.540C>T	NM_003282.4	NP_003273.1:p.(Ser180=)	NC_000011.9:g.1862772C>T	(Likely) benign	1 lab	500d8b9abe
5:70238332 SMN1 C>T	5	70238332	70238332	C	T	SMN1	c.421C>T	NM_000344.3	NP_000335.1:p.(Leu141=)	NC_000005.9:g.70238332C>T	VUS	1 lab	501303ad9b
2:70463301 TIA1 G>A	2	70463301	70463301	G	A	TIA1	c.33C>T	NM_022173.4	NP_071505.2:p.(Val11=)	NC_000002.11:g.70463301G>A	(Likely) benign	1 lab	50162af831
19:50367429 PNKP C>T	19	50367429	50367429	C	T	PNKP	c.636+7G>A	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50367429C>T	(Likely) benign	1 lab	50180f3684
14:65219095 SPTB CAGAG>C	14	65219095	65219104	CAGAG	C	SPTB	c.6602+1156_6602+1159del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65219101_65219104del	(Likely) benign	1 lab	5022e1a472
X:76940014 ATRX A>T	X	76940014	76940014	A	T	ATRX	c.734T>A	NM_000489.5	NP_000480.3:p.(Leu245Gln)	NC_000023.10:g.76940014A>T	(Likely) pathogenic	1 lab	5026fc103c
2:8919101 KIDINS220 G>A	2	8919101	8919101	G	A	KIDINS220	c.2539C>T	NM_020738.4	NP_065789.1:p.(Arg847Cys)	NC_000002.11:g.8919101G>A	(Likely) benign	1 lab	cf276eddb1
5:14665053 OTULIN A>G	5	14665053	14665053	A	G	OTULIN	c.119A>G	NM_138348.6	NP_612357.4:p.(Gln40Arg)	NC_000005.9:g.14665053A>G	(Likely) benign	1 lab	502a3030d0
10:33197311 ITGB1 A>G	10	33197311	33197311	A	G	ITGB1	c.2316T>C	NM_002211.4	NP_002202.2:p.(Asn772=)	NC_000010.10:g.33197311A>G	(Likely) benign	1 lab	502ad0ed94
X:153297758 MECP2 G>A	X	153297758	153297758	G	A	MECP2	c.277C>T	NM_004992.3	NP_004983.1:p.(Pro93Ser)	NC_000023.10:g.153297758G>A	(Likely) pathogenic	1 lab	502afedf2f
5:79027470 CMYA5 C>T	5	79027470	79027470	C	T	CMYA5	c.2882C>T	NM_153610.5	NP_705838.3:p.(Ala961Val)	NC_000005.9:g.79027470C>T	(Likely) benign	1 lab	502bccf44f
17:78176233 CARD14 T>G	17	78176233	78176233	T	G	CARD14	c.2219+14T>G	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78176233T>G	(Likely) benign	1 lab	502d9555fa
7:116381121 MET GT>G	7	116381121	116381137	GT	G	MET	c.1701+58del	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116381137del	(Likely) benign	1 lab	502ebe2c13
16:3293512 MEFV C>A	16	3293512	3293512	C	A	MEFV	c.1975G>T	NM_000243.2	NP_000234.1:p.(Val659Phe)	NC_000016.9:g.3293512C>A	VUS	1 lab	506e0b2d17
1:154246356 HAX1 T>C	1	154246356	154246356	T	C	HAX1	c.423T>C	NM_006118.3	NP_006109.2:p.(Phe141=)	NC_000001.10:g.154246356T>C	(Likely) benign	1 lab	50387db613
3:184073583 CLCN2 C>T	3	184073583	184073583	C	T	CLCN2	c.1086-17G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184073583C>T	(Likely) benign	1 lab	503b17db95
14:102510318 DYNC1H1 T>C	14	102510318	102510318	T	C	DYNC1H1	c.12620T>C	NM_001376.5	NP_001367.2:p.(Phe4207Ser)	NC_000014.8:g.102510318T>C	VUS	1 lab	cf29e596dc
16:1259029 CACNA1H C>T	16	1259029	1259029	C	T	CACNA1H	c.3364-3C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1259029C>T	(Likely) benign	1 lab	50429b6d4b
9:129453367 LMX1B G>A	9	129453367	129453367	G	A	LMX1B	c.559+20G>A	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129453367G>A	(Likely) benign	1 lab	5045c4eac1
6:52357010 EFHC1 T>C	6	52357010	52357010	T	C	EFHC1	c.1852-58T>C	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52357010T>C	(Likely) benign	1 lab	5045c709ad
20:60899195 LAMA5 C>T	20	60899195	60899195	C	T	LAMA5	c.5709G>A	NM_005560.4	NP_005551.3:p.(Arg1903=)	NC_000020.10:g.60899195C>T	(Likely) benign	1 lab	5048349dc7
5:156186376 SGCD A>G	5	156186376	156186376	A	G	SGCD	c.848A>G	NM_000337.6	NP_000328.2:p.(Gln283Arg)	NC_000005.9:g.156186376A>G	(Likely) benign	1 lab	cf2f730e5a
4:71498322 ENAM T>A	4	71498322	71498322	T	A	ENAM	c.169-46T>A	NM_031889.3	NP_114095.2:p.?	NC_000004.11:g.71498322T>A	(Likely) benign	1 lab	50595d1bd5
16:3706691 DNASE1 C>T	16	3706691	3706691	C	T	DNASE1	c.373C>T	NM_005223.3	NP_005214.2:p.(Pro125Ser)	NC_000016.9:g.3706691C>T	(Likely) benign	1 lab	5061f9ad6d
19:39076592 RYR1 G>A	19	39076592	39076592	G	A	RYR1	c.14818G>A	NM_000540.2	NP_000531.2:p.(Ala4940Thr)	NC_000019.9:g.39076592G>A	(Likely) pathogenic	1 lab	506867c433
8:12956836 DLC1 G>A	8	12956836	12956836	G	A	DLC1	c.2990+20C>T	NM_182643.3	NP_872584.2:p.?	NC_000008.10:g.12956836G>A	(Likely) benign	1 lab	5069e96d18
1:156084859 LMNA C>T	1	156084859	156084859	C	T	LMNA				NC_000001.10:g.156084859C>T	(Likely) benign	1 lab	506b16b196
7:131189208 PODXL C>T	7	131189208	131189208	C	T	PODXL	c.1443G>A	NM_005397.4	NP_005388.2:p.(Leu481=)	NC_000007.13:g.131189208C>T	(Likely) benign	1 lab	50753a145b
7:103130244 RELN G>A	7	103130244	103130244	G	A	RELN	c.9708C>T	NM_005045.4	NP_005036.2:p.(Ser3236=)	NC_000007.13:g.103130244G>A	(Likely) benign	1 lab	5076d66989
20:62078098 KCNQ2 A>G	20	62078098	62078098	A	G	KCNQ2	c.387+2T>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62078098A>G	(Likely) pathogenic	1 lab	507ca9889d
5:156671359 ITK C>T	5	156671359	156671359	C	T	ITK	c.1320C>T	NM_005546.3	NP_005537.3:p.(His440=)	NC_000005.9:g.156671359C>T	(Likely) benign	1 lab	50881e1f19
2:202490841 TMEM237 T>TG	2	202490841	202490843	T	TG	TMEM237	c.1042dup	NM_152388.4	NP_689601.2:p.(Gln348ProfsTer24)	NC_000002.11:g.202490843dup	(Likely) pathogenic	1 lab	50893dcee4
11:117869654 IL10RA C>T	11	117869654	117869654	C	T	IL10RA	c.1035C>T	NM_001558.3	NP_001549.2:p.(Asp345=)	NC_000011.9:g.117869654C>T	(Likely) benign	1 lab	508fcb2582
12:110032909 MVK T>C	12	110032909	110032909	T	C	MVK	c.962T>C	NM_000431.2	NP_000422.1:p.(Val321Ala)	NC_000012.11:g.110032909T>C	(Likely) pathogenic	1 lab	5090624690
2:102642558 IL1R2 G>GT	2	102642558	102642565	G	GT	IL1R2	c.888-8dup	NM_004633.4	NP_004624.1:p.?	NC_000002.11:g.102642565dup	(Likely) benign	1 lab	5090cacc90
22:32257179 DEPDC5 TA>T	22	32257179	32257181	TA	T	DEPDC5	c.3265-173del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32257181del	(Likely) benign	1 lab	5091655c35
11:64577204 MEN1 C>T	11	64577204	64577204	C	T	MEN1	c.378G>A	NM_000244.3	NP_000235.2:p.(Trp126Ter)	NC_000011.9:g.64577204C>T	(Likely) pathogenic	1 lab	5099aefbda
14:65261256 SPTB GCTTCCATCAA>G	14	65261256	65261269	GCTTCCATCAA	G	SPTB	c.1714_1723del	NM_001355436.2	NP_001342365.1:p.(Met573ThrfsTer9)	NC_000014.8:g.65261260_65261269del	(Likely) pathogenic	1 lab	509e4c5fba
6:161162418 PLG A>G	6	161162418	161162418	A	G	PLG	c.2094A>G	NM_000301.3	NP_000292.1:p.(Glu698=)	NC_000006.11:g.161162418A>G	(Likely) benign	1 lab	50a0a6e2bc
6:32945830 BRD2 C>T	6	32945830	32945830	C	T	BRD2	c.1578+48C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32945830C>T	(Likely) benign	1 lab	50a22cb518
2:166900385 SCN1A G>A	2	166900385	166900385	G	A	SCN1A	c.1837C>T	NM_001165963.3	NP_001159435.1:p.(Arg613Ter)	NC_000002.11:g.166900385G>A	(Likely) pathogenic	1 lab	50a6d6bff5
13:39435552 FREM2 C>CG	13	39435552	39435553	C	CG	FREM2	c.7520-16_7520-15insG	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435552_39435553insG	(Likely) benign	1 lab	50ab243458
X:47489155 CFP C>CT	X	47489155	47489156	C	CT	CFP	c.76+12dup	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47489156dup	(Likely) benign	1 lab	50ab262502
1:155265241 PKLR C>A	1	155265241	155265241	C	A	PKLR	c.494G>T	NM_000298.6	NP_000289.1:p.(Gly165Val)	NC_000001.10:g.155265241C>A	(Likely) pathogenic	1 lab	50abef5754
9:98279102 PTCH1 T>C	9	98279102	98279102	T	C	PTCH1	c.1A>G	NM_001083603.2	NP_001077072.1:p.(Met1?)	NC_000009.11:g.98279102T>C	VUS	1 lab	50b37bdd85
2:166915111 SCN1A T>C	2	166915111	166915111	T	C	SCN1A	c.352A>G	NM_001165963.3	NP_001159435.1:p.(Arg118Gly)	NC_000002.11:g.166915111T>C	(Likely) pathogenic	1 lab	50b630a042
10:112764358 SHOC2 T>A	10	112764358	112764358	T	A	SHOC2	c.973-6T>A	NM_007373.3	NP_031399.2:p.?	NC_000010.10:g.112764358T>A	(Likely) benign	1 lab	50b7018f8f
16:10637445 EMP2 T>C	16	10637445	10637445	T	C	EMP2	c.151A>G	NM_001424.6	NP_001415.1:p.(Ile51Val)	NC_000016.9:g.10637445T>C	(Likely) benign	1 lab	50b89420c0
1:36933526 CSF3R G>A	1	36933526	36933526	G	A	CSF3R	c.1761C>T	NM_000760.4	NP_000751.1:p.(Leu587=)	NC_000001.10:g.36933526G>A	(Likely) benign	1 lab	50bb2b1508
11:62397735 GANAB G>A	11	62397735	62397735	G	A	GANAB	c.1593C>T	NM_198335.4	NP_938149.2:p.(Tyr531=)	NC_000011.9:g.62397735G>A	(Likely) benign	1 lab	50bc07cde0
7:128487829 FLNC G>C	7	128487829	128487829	G	C	FLNC	c.4367G>C	NM_001458.4	NP_001449.3:p.(Gly1456Ala)	NC_000007.13:g.128487829G>C	VUS	1 lab	50c85a546a
15:42109163 MAPKBP1 C>T	15	42109163	42109163	C	T	MAPKBP1	c.1659C>T	NM_001128608.2	NP_001122080.1:p.(Ala553=)	NC_000015.9:g.42109163C>T	(Likely) benign	1 lab	50cb029eec
16:4747407 ANKS3 G>A	16	4747407	4747407	G	A	ANKS3	c.1821C>T	NM_133450.4	NP_597707.1:p.(Gly607=)	NC_000016.9:g.4747407G>A	(Likely) benign	1 lab	50cd23e08d
1:9778870 PIK3CD A>G	1	9778870	9778870	A	G	PIK3CD	c.1139A>G	NM_005026.3	NP_005017.3:p.(Asn380Ser)	NC_000001.10:g.9778870A>G	(Likely) benign	1 lab	50ce7de84f
14:102514713 DYNC1H1 G>A	14	102514713	102514713	G	A	DYNC1H1	c.13219-140G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102514713G>A	(Likely) benign	1 lab	50d0d77c45
1:183536061 NCF2 C>T	1	183536061	183536061	C	T	NCF2	c.918G>A	NM_000433.3	NP_000424.2:p.(Gln306=)	NC_000001.10:g.183536061C>T	(Likely) benign	1 lab	50d2c97c9a
12:6439825 TNFRSF1A G>C	12	6439825	6439825	G	C	TNFRSF1A	c.678C>G	NM_001065.3	NP_001056.1:p.(Ser226=)	NC_000012.11:g.6439825G>C	(Likely) benign	1 lab	50d85fc839
X:110366315 PAK3 A>T	X	110366315	110366315	A	T	PAK3	c.-17A>T	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110366315A>T	(Likely) benign	1 lab	50da7cc814
2:189974959 COL5A2 G>A	2	189974959	189974959	G	A	COL5A2	c.314C>T	NM_000393.5	NP_000384.2:p.(Thr105Ile)	NC_000002.11:g.189974959G>A	VUS	1 lab	50dcdf4c0f
11:9202434 DENND5A C>T	11	9202434	9202434	C	T	DENND5A	c.1335G>A	NM_015213.4	NP_056028.2:p.(Ser445=)	NC_000011.9:g.9202434C>T	(Likely) benign	1 lab	50e2187718
9:14868653 FREM1 A>T	9	14868653	14868653	A	T	FREM1	c.234+89T>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14868653A>T	(Likely) benign	1 lab	50f1b493df
1:179521740 NPHS2 G>A	1	179521740	179521740	G	A	NPHS2	c.871C>T	NM_014625.3	NP_055440.1:p.(Arg291Trp)	NC_000001.10:g.179521740G>A	(Likely) pathogenic	1 lab	50f5572a65
1:3160677 PRDM16 G>A	1	3160677	3160677	G	A	PRDM16	c.414G>A	NM_022114.4	NP_071397.3:p.(Ser138=)	NC_000001.10:g.3160677G>A	(Likely) benign	1 lab	50f5ff6e63
2:179565948 TTN C>T	2	179565948	179565948	C	T	TTN	c.30599-18G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179565948C>T	VUS	1 lab	50f68d3df9
8:2089096 MYOM2 T>C	8	2089096	2089096	T	C	MYOM2	c.3997T>C	NM_003970.4	NP_003961.3:p.(Phe1333Leu)	NC_000008.10:g.2089096T>C	(Likely) benign	1 lab	50ffa9e01c
10:75830533 VCL C>T	10	75830533	75830533	C	T	VCL	c.345C>T	NM_014000.2	NP_054706.1:p.(Ile115=)	NC_000010.10:g.75830533C>T	(Likely) benign	1 lab	51043ea873
22:35713931 TOM1 C>T	22	35713931	35713931	C	T	TOM1	c.114C>T	NM_001135732.1	NP_001129204.1:p.(Asp38=)	NC_000022.10:g.35713931C>T	(Likely) benign	1 lab	5104ec4e20
13:52515322 ATP7B G>A	13	52515322	52515322	G	A	ATP7B	c.3451C>T	NM_000053.4	NP_000044.2:p.(Arg1151Cys)	NC_000013.10:g.52515322G>A	(Likely) pathogenic	1 lab	510c4a1499
1:158617185 SPTA1 C>A	1	158617185	158617185	C	A	SPTA1	c.3896+144G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158617185C>A	(Likely) benign	1 lab	510c974982
X:133609227 HPRT1 C>T	X	133609227	133609227	C	T	HPRT1	c.151C>T	NM_000194.3	NP_000185.1:p.(Arg51Ter)	NC_000023.10:g.133609227C>T	(Likely) pathogenic	1 lab	511269663f
12:110032875 MVK G>T	12	110032875	110032875	G	T	MVK	c.928G>T	NM_000431.2	NP_000422.1:p.(Val310Leu)	NC_000012.11:g.110032875G>T	(Likely) pathogenic	1 lab	5116b8e826
19:54313944 NLRP12 A>C	19	54313944	54313944	A	C	NLRP12	c.969T>G	NM_144687.4	NP_653288.1:p.(Leu323=)	NC_000019.9:g.54313944A>C	(Likely) benign	1 lab	51187046a8
10:88469749 LDB3 T>G	10	88469749	88469749	T	G	LDB3	c.1188T>G	NM_001171610.2	NP_001165081.1:p.(Pro396=)	NC_000010.10:g.88469749T>G	(Likely) benign	1 lab	5118c11a6a
11:94212932 MRE11 A>T	11	94212932	94212932	A	T	MRE11	c.315-5T>A	NM_005590.4	NP_005581.2:p.?	NC_000011.9:g.94212932A>T	(Likely) benign	1 lab	511a8f0ec5
15:93521584 CHD2 C>T	15	93521584	93521584	C	T	CHD2	c.2698C>T	NM_001271.4	NP_001262.3:p.(Arg900Ter)	NC_000015.9:g.93521584C>T	(Likely) pathogenic	1 lab	511aa3b89b
19:39052058 RYR1 C>T	19	39052058	39052058	C	T	RYR1	c.12588C>T	NM_000540.2	NP_000531.2:p.(Ile4196=)	NC_000019.9:g.39052058C>T	(Likely) benign	1 lab	511c62e366
7:158457350 NCAPG2 A>G	7	158457350	158457350	A	G	NCAPG2	c.1572T>C	NM_017760.7	NP_060230.5:p.(Asn524=)	NC_000007.13:g.158457350A>G	(Likely) benign	1 lab	511e0ca01b
7:140476698 BRAF C>T	7	140476698	140476698	C	T	BRAF	c.1694+14G>A	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140476698C>T	(Likely) benign	1 lab	51239272bc
16:1256016 CACNA1H C>A	16	1256016	1256016	C	A	CACNA1H	c.2604-88C>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1256016C>A	(Likely) benign	1 lab	5123df0328
1:237946971 RYR2 C>T	1	237946971	237946971	C	T	RYR2	c.11963-4C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237946971C>T	(Likely) benign	1 lab	512982572b
2:179440184 TTN C>A	2	179440184	179440184	C	A	TTN	c.70675G>T	NM_001267550.1	NP_001254479.1:p.(Asp23559Tyr)	NC_000002.11:g.179440184C>A	VUS	1 lab	512d1e09e5
1:158646223 SPTA1 T>C	1	158646223	158646223	T	C	SPTA1	c.958-138A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158646223T>C	(Likely) benign	1 lab	512d2079fc
4:79202486 FRAS1 A>G	4	79202486	79202486	A	G	FRAS1	c.1072-66A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79202486A>G	(Likely) benign	1 lab	513340c234
2:179419354 TTN G>A	2	179419354	179419354	G	A	TTN	c.61900C>T	NM_133432.3	NP_597676.3:p.(Arg20634Cys)	NC_000002.11:g.179419354G>A	(Likely) benign	1 lab	513a825ad8
7:150655246 KCNH2 G>T	7	150655246	150655246	G	T	KCNH2	c.817C>A	NM_000238.3	NP_000229.1:p.(Arg273=)	NC_000007.13:g.150655246G>T	(Likely) benign	1 lab	513ad6b37a
11:4080523 STIM1 C>A	11	4080523	4080523	C	A	STIM1	c.510C>A	NM_001277961.1	NP_001264890.1:p.(Thr170=)	NC_000011.9:g.4080523C>A	(Likely) benign	1 lab	514198f20b
12:2558227 CACNA1C A>G	12	2558227	2558227	A	G	CACNA1C	c.563A>G	NM_199460.3	NP_955630.3:p.(Asn188Ser)	NC_000012.11:g.2558227A>G	VUS	1 lab	51438a47e8
3:190366441 IL1RAP C>T	3	190366441	190366441	C	T	IL1RAP	c.1660C>T	NM_001167928.2	NP_001161400.1:p.(Arg554Trp)	NC_000003.11:g.190366441C>T	(Likely) benign	1 lab	514786b18b
17:40940414 WNK4 C>T	17	40940414	40940414	C	T	WNK4	c.2029C>T	NM_032387.5	NP_115763.2:p.(Arg677Trp)	NC_000017.10:g.40940414C>T	(Likely) benign	1 lab	5148ded9fb
6:24302287 DCDC2 G>A	6	24302287	24302287	G	A	DCDC2	c.349-15C>T	NM_016356.5	NP_057440.2:p.?	NC_000006.11:g.24302287G>A	(Likely) benign	1 lab	514a08663c
9:130605438 ENG C>G	9	130605438	130605438	C	G	ENG	c.154G>C	NM_000118.3	NP_000109.1:p.(Gly52Arg)	NC_000009.11:g.130605438C>G	(Likely) pathogenic	1 lab	514e67109f
17:76134650 TMC8 G>T	17	76134650	76134650	G	T	TMC8	c.1665-5G>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76134650G>T	(Likely) benign	1 lab	5154501346
X:122536958 GRIA3 C>A	X	122536958	122536958	C	A	GRIA3	c.1185+9C>A	NM_000828.4	NP_000819.3:p.?	NC_000023.10:g.122536958C>A	(Likely) benign	1 lab	51557c03db
11:8148287 RIC3 C>A	11	8148287	8148287	C	A	RIC3	c.589G>T	NM_001206671.4	NP_001193600.1:p.(Val197Phe)	NC_000011.9:g.8148287C>A	(Likely) benign	1 lab	5156754fb7
15:89861999 POLG C>T	15	89861999	89861999	C	T	POLG	c.3274-19G>A	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89861999C>T	(Likely) benign	1 lab	515d4a7e0f
20:61978244 CHRNA4 A>C	20	61978244	61978244	A	C	CHRNA4	c.1759-29T>G	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61978244A>C	(Likely) benign	1 lab	515f8b8d66
17:16843026 TNFRSF13B C>T	17	16843026	16843026	C	T	TNFRSF13B	c.717G>A	NM_012452.2	NP_036584.1:p.(Ala239=)	NC_000017.10:g.16843026C>T	(Likely) benign	1 lab	51707f8d6f
11:64365984 SLC22A12 T>C	11	64365984	64365984	T	C	SLC22A12	c.831-4T>C	NM_144585.4	NP_653186.2:p.?	NC_000011.9:g.64365984T>C	(Likely) benign	1 lab	517acce306
15:25658104 UBE3A T>C	15	25658104	25658104	T	C	UBE3A	c.-220-986A>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25658104T>C	(Likely) benign	1 lab	517bf32564
4:170483050 NEK1 A>T	4	170483050	170483050	A	T	NEK1	c.1081-8T>A	NM_001374418.1	NP_001361347.1:p.?	NC_000004.11:g.170483050A>T	(Likely) benign	1 lab	517f8cb073
15:86123231 AKAP13 C>T	15	86123231	86123231	C	T	AKAP13	c.1932C>T	NM_006738.6	NP_006729.4:p.(Ser644=)	NC_000015.9:g.86123231C>T	(Likely) benign	1 lab	5183be105e
4:88986530 PKD2 AC>A	4	88986530	88986532	AC	A	PKD2	c.2125del	NM_000297.4	NP_000288.1:p.(His709IlefsTer7)	NC_000004.11:g.88986532del	(Likely) pathogenic	1 lab	518493ae23
15:63356259 TPM1 A>G	15	63356259	63356259	A	G	TPM1	c.772+1415A>G	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63356259A>G	VUS	1 lab	518a0d43da
14:65253900 SPTB C>T	14	65253900	65253900	C	T	SPTB	c.2805-22G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65253900C>T	(Likely) benign	1 lab	518c9ac184
12:2716205 CACNA1C C>T	12	2716205	2716205	C	T	CACNA1C	c.3265C>T	NM_000719.7	NP_000710.5:p.(Arg1089Cys)	NC_000012.11:g.2716205C>T	VUS	1 lab	cf3500e64a
8:61778170 CHD7 A>G	8	61778170	61778170	A	G	CHD7				NC_000008.10:g.61778170A>G	(Likely) benign	1 lab	518cad4328
10:95155977 MYOF G>A	10	95155977	95155977	G	A	MYOF	c.1339C>T	NM_013451.4	NP_038479.1:p.(Arg447Cys)	NC_000010.10:g.95155977G>A	(Likely) benign	1 lab	518ec93a75
13:103282450 TPP2 T>C	13	103282450	103282450	T	C	TPP2	c.1149T>C	NM_003291.4	NP_003282.2:p.(Val383=)	NC_000013.10:g.103282450T>C	(Likely) benign	1 lab	518ff89a1a
5:137206683 MYOT G>T	5	137206683	137206683	G	T	MYOT	c.343G>T	NM_006790.2	NP_006781.1:p.(Ala115Ser)	NC_000005.9:g.137206683G>T	(Likely) benign	1 lab	5193bff529
X:66766356 AR TGGCGGCGGCGGCGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGCGGCGGCGGCGGC	T	AR	c.1400_1420del	NM_000044.6	NP_000035.2:p.(Gly467_Gly473del)	NC_000023.10:g.66766388_66766408del	(Likely) benign	1 lab	519688f835
X:47435883 SYN1 G>A	X	47435883	47435883	G	A	SYN1	c.980+14C>T	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47435883G>A	(Likely) benign	1 lab	519789a7f7
8:41583294 ANK1 C>T	8	41583294	41583294	C	T	ANK1	c.597G>A	NM_000037.4	NP_000028.3:p.(Pro199=)	NC_000008.10:g.41583294C>T	(Likely) benign	1 lab	5198e65fba
8:17814914 PCM1 C>G	8	17814914	17814914	C	G	PCM1	c.1788C>G	NM_006197.4	NP_006188.4:p.(Asn596Lys)	NC_000008.10:g.17814914C>G	(Likely) benign	1 lab	519907afc7
20:62318978 RTEL1 C>T	20	62318978	62318978	C	T	RTEL1	c.680-13C>T	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62318978C>T	(Likely) benign	1 lab	519c151254
10:27326098 ANKRD26 A>G	10	27326098	27326098	A	G	ANKRD26	c.2697+17T>C	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27326098A>G	(Likely) benign	1 lab	519da95bb0
3:52486283 TNNC1 T>TG	3	52486283	52486289	T	TG	TNNC1	c.56-16dup	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52486289dup	(Likely) benign	1 lab	519fd913c1
X:153590781 FLNA C>A	X	153590781	153590781	C	A	FLNA	c.2565+5G>T	NM_001456.3	NP_001447.2:p.?	NC_000023.10:g.153590781C>A	VUS	1 lab	51a7a12ed7
12:111856205 SH2B3 G>A	12	111856205	111856205	G	A	SH2B3	c.256G>A	NM_005475.2	NP_005466.1:p.(Gly86Ser)	NC_000012.11:g.111856205G>A	VUS	1 lab	51a82298d6
11:108190661 ATM T>C	11	108190661	108190661	T	C	ATM	c.6348-20T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190661T>C	(Likely) benign	1 lab	51aa6c7f00
18:43460091 EPG5 G>T	18	43460091	43460091	G	T	EPG5	c.5616C>A	NM_020964.3	NP_066015.2:p.(Thr1872=)	NC_000018.9:g.43460091G>T	(Likely) benign	1 lab	51ab4f0442
5:89981611 ADGRV1 C>T	5	89981611	89981611	C	T	ADGRV1	c.6289C>T	NM_032119.4	NP_115495.3:p.(Arg2097Cys)	NC_000005.9:g.89981611C>T	(Likely) benign	1 lab	51ad3d7697
2:166900425 SCN1A C>T	2	166900425	166900425	C	T	SCN1A	c.1797G>A	NM_001165963.3	NP_001159435.1:p.(Glu599=)	NC_000002.11:g.166900425C>T	(Likely) benign	1 lab	51b2776999
17:41245343 BRCA1 T>G	17	41245343	41245343	T	G	BRCA1	c.2205A>C	NM_007294.3	NP_009225.1:p.(Leu735=)	NC_000017.10:g.41245343T>G	(Likely) benign	1 lab	51b351c47f
12:110029039 MVK T>C	12	110029039	110029039	T	C	MVK	c.769-7T>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029039T>C	(Likely) benign	1 lab	51b40e32a9
3:121981087 CASR G>A	3	121981087	121981087	G	A	CASR	c.1205G>A	NM_001178065.2	NP_001171536.2:p.(Ser402Asn)	NC_000003.11:g.121981087G>A	(Likely) benign	1 lab	51b4e8ee49
1:150771703 CTSK T>C	1	150771703	150771703	T	C	CTSK	c.831A>G	NM_000396.4	NP_000387.1:p.(Ala277=)	NC_000001.10:g.150771703T>C	(Likely) benign	1 lab	cf3689e881
14:64537441 SYNE2 A>G	14	64537441	64537441	A	G	SYNE2	c.10510A>G	NM_182914.2	NP_878918.2:p.(Thr3504Ala)	NC_000014.8:g.64537441A>G	(Likely) benign	1 lab	51bf52ffa1
4:79353746 FRAS1 C>T	4	79353746	79353746	C	T	FRAS1	c.5205C>T	NM_025074.7	NP_079350.5:p.(His1735=)	NC_000004.11:g.79353746C>T	(Likely) benign	1 lab	51c6543a2e
2:166911190 SCN1A C>G	2	166911190	166911190	C	G	SCN1A	c.560G>C	NM_001165963.3	NP_001159435.1:p.(Arg187Pro)	NC_000002.11:g.166911190C>G	(Likely) pathogenic	1 lab	51c90469f2
1:59139254 MYSM1 T>C	1	59139254	59139254	T	C	MYSM1	c.1563A>G	NM_001085487.3	NP_001078956.1:p.(Gln521=)	NC_000001.10:g.59139254T>C	(Likely) benign	1 lab	51ca8f5527
20:468109 CSNK2A1 C>T	20	468109	468109	C	T	CSNK2A1	c.935G>A	NM_001895.4	NP_001886.1:p.(Arg312Gln)	NC_000020.10:g.468109C>T	(Likely) pathogenic	1 lab	51cc0b771f
4:79444043 FRAS1 C>T	4	79444043	79444043	C	T	FRAS1	c.10808+81C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79444043C>T	(Likely) benign	1 lab	51cc96424a
X:48767284 SLC35A2 C>T	X	48767284	48767284	C	T	SLC35A2	c.176-11G>A	NM_001282651.2	NP_001269580.1:p.?	NC_000023.10:g.48767284C>T	(Likely) benign	1 lab	51cf799664
18:47506874 MYO5B G>T	18	47506874	47506874	G	T	MYO5B	c.996C>A	NM_001080467.3	NP_001073936.1:p.(Ile332=)	NC_000018.9:g.47506874G>T	(Likely) benign	1 lab	51d0e6c96c
1:237787053 RYR2 T>G	1	237787053	237787053	T	G	RYR2	c.5917-12T>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237787053T>G	(Likely) benign	1 lab	51d12b8389
5:158745777 IL12B G>A	5	158745777	158745777	G	A	IL12B	c.822C>T	NM_002187.2	NP_002178.2:p.(Cys274=)	NC_000005.9:g.158745777G>A	(Likely) benign	1 lab	51d2259358
12:110032903 MVK G>C	12	110032903	110032903	G	C	MVK	c.956G>C	NM_000431.2	NP_000422.1:p.(Cys319Ser)	NC_000012.11:g.110032903G>C	VUS	1 lab	51d387ccf1
9:90584198 CDK20 C>T	9	90584198	90584198	C	T	CDK20	c.754G>A	NM_001039803.2	NP_001034892.1:p.(Glu252Lys)	NC_000009.11:g.90584198C>T	(Likely) benign	1 lab	51d85984f3
9:138680066 KCNT1 C>T	9	138680066	138680066	C	T	KCNT1	c.3502+1699C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138680066C>T	(Likely) benign	1 lab	51d93cd7a9
16:31012530 STX1B G>C	16	31012530	31012530	G	C	STX1B	c.106-16C>G	NM_052874.4	NP_443106.1:p.?	NC_000016.9:g.31012530G>C	(Likely) benign	1 lab	51dedb4e17
1:247587661 NLRP3 G>A	1	247587661	247587661	G	A	NLRP3	c.910G>A	NM_001243133.2	NP_001230062.1:p.(Glu304Lys)	NC_000001.10:g.247587661G>A	(Likely) pathogenic	1 lab	51dfd3e97a
11:67800476 NDUFS8 C>T	11	67800476	67800476	C	T	NDUFS8	c.196C>T	NM_002496.4	NP_002487.1:p.(Arg66Ter)	NC_000011.9:g.67800476C>T	(Likely) pathogenic	1 lab	51e1aea147
9:130581920 ENG G>T	9	130581920	130581920	G	T	ENG	c.1292C>A	NM_000118.3	NP_000109.1:p.(Ser431Ter)	NC_000009.11:g.130581920G>T	(Likely) pathogenic	1 lab	51e62f9e18
5:94820542 SKIC3 G>A	5	94820542	94820542	G	A	SKIC3	c.3939C>T	NM_014639.3	NP_055454.1:p.(Asp1313=)	NC_000005.9:g.94820542G>A	(Likely) benign	1 lab	51ebc880ae
1:156109563 LMNA A>G	1	156109563	156109563	A	G	LMNA	c.1658A>G	NM_001257374.3	NP_001244303.1:p.(Gln553Arg)	NC_000001.10:g.156109563A>G	(Likely) benign	1 lab	51f007437e
7:131194136 PODXL A>G	7	131194136	131194136	A	G	PODXL	c.915T>C	NM_005397.4	NP_005388.2:p.(His305=)	NC_000007.13:g.131194136A>G	(Likely) benign	1 lab	51f28b7013
17:73829131 UNC13D G>A	17	73829131	73829131	G	A	UNC13D	c.2368-5C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73829131G>A	(Likely) benign	1 lab	51f3b9a02c
10:27444389 MASTL G>C	10	27444389	27444389	G	C	MASTL	c.34G>C	NM_032844.5	NP_116233.2:p.(Gly12Arg)	NC_000010.10:g.27444389G>C	(Likely) benign	1 lab	51f5cb403b
12:7053817 C12orf57 TGGGTCAGACGCGGGAAGGC>T	12	7053817	7053858	TGGGTCAGACGCGGGAAGGC	T	C12orf57	c.229+25_229+43del	NM_138425.4	NP_612434.1:p.?	NC_000012.11:g.7053840_7053858del	(Likely) benign	1 lab	51f84911f2
14:23896891 MYH7 G>T	14	23896891	23896891	G	T	MYH7	c.1791C>A	NM_000257.4	NP_000248.2:p.(Asn597Lys)	NC_000014.8:g.23896891G>T	VUS	1 lab	cf3c26d1e7
17:29557266 NF1 A>G	17	29557266	29557266	A	G	NF1	c.2991-12A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557266A>G	VUS	1 lab	cf3c4aa0c2
4:79259117 FRAS1 C>T	4	79259117	79259117	C	T	FRAS1	c.2422+146C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79259117C>T	(Likely) benign	1 lab	5201ebb38a
3:10183739 VHL G>A	3	10183739	10183739	G	A	VHL	c.208G>A	NM_000551.3	NP_000542.1:p.(Glu70Lys)	NC_000003.11:g.10183739G>A	(Likely) pathogenic	1 lab	520a47a044
14:103389046 AMN C>A	14	103389046	103389046	C	A	AMN	c.21C>A	NM_030943.3	NP_112205.2:p.(Val7=)	NC_000014.8:g.103389046C>A	(Likely) benign	1 lab	520c81c887
3:58191220 DNASE1L3 C>CT	3	58191220	58191223	C	CT	DNASE1L3	c.297dup	NM_004944.4	NP_004935.1:p.(Glu100ArgfsTer22)	NC_000003.11:g.58191223dup	(Likely) pathogenic	1 lab	520c90072d
17:42427037 GRN C>T	17	42427037	42427037	C	T	GRN	c.267C>T	NM_002087.2	NP_002078.1:p.(Ala89=)	NC_000017.10:g.42427037C>T	(Likely) benign	1 lab	52118ae043
2:73675387 ALMS1 G>C	2	73675387	73675387	G	C	ALMS1	c.1736G>C	NM_015120.4	NP_055935.4:p.(Arg579Thr)	NC_000002.11:g.73675387G>C	VUS	1 lab	5211dac4a7
17:61557822 ACE C>T	17	61557822	61557822	C	T	ACE	c.780C>T	NM_000789.4	NP_000780.1:p.(Arg260=)	NC_000017.10:g.61557822C>T	(Likely) benign	1 lab	5212a26add
2:87017778 CD8A C>G	2	87017778	87017778	C	G	CD8A	c.76G>C	NM_001768.6	NP_001759.3:p.(Val26Leu)	NC_000002.11:g.87017778C>G	(Likely) benign	1 lab	521f2902ff
7:140507763 BRAF G>A	7	140507763	140507763	G	A	BRAF	c.708C>T	NM_004333.4	NP_004324.2:p.(Asn236=)	NC_000007.13:g.140507763G>A	(Likely) benign	1 lab	52228f949f
5:127627350 FBN2 C>A	5	127627350	127627350	C	A	FBN2	c.6167-4G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127627350C>A	(Likely) benign	1 lab	5222ad831c
X:70597555 TAF1 G>C	X	70597555	70597555	G	C	TAF1	c.817G>C	NM_004606.5	NP_004597.3:p.(Glu273Gln)	NC_000023.10:g.70597555G>C	VUS	1 lab	cf4223493e
7:45078024 CCM2 A>AG	7	45078024	45078026	A	AG	CCM2	c.267+1dup	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45078026dup	(Likely) pathogenic	1 lab	522b3372a5
22:32270538 DEPDC5 T>A	22	32270538	32270538	T	A	DEPDC5	c.3696+147T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32270538T>A	(Likely) benign	1 lab	522bcca690
17:10543860 MYH3 T>C	17	10543860	10543860	T	C	MYH3	c.2289+20A>G	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543860T>C	(Likely) benign	1 lab	522ca59d60
16:2143636 PKD1 C>G	16	2143636	2143636	C	G	PKD1	c.10925G>C	NM_001009944.2	NP_001009944.2:p.(Arg3642Pro)	NC_000016.9:g.2143636C>G	VUS	1 lab	5231cb30d1
9:138649179 KCNT1 C>G	9	138649179	138649179	C	G	KCNT1	c.711C>G	NM_020822.2	NP_065873.2:p.(Pro237=)	NC_000009.11:g.138649179C>G	(Likely) benign	1 lab	5282953c15
1:167793766 ADCY10 G>A	1	167793766	167793766	G	A	ADCY10	c.4000C>T	NM_018417.6	NP_060887.2:p.(Arg1334Ter)	NC_000001.10:g.167793766G>A	(Likely) pathogenic	1 lab	5233caff6e
13:35730310 NBEA T>C	13	35730310	35730310	T	C	NBEA	c.2618T>C	NM_015678.4	NP_056493.3:p.(Ile873Thr)	NC_000013.10:g.35730310T>C	(Likely) benign	1 lab	523541fb50
2:31560521 XDH T>C	2	31560521	31560521	T	C	XDH	c.3937A>G	NM_000379.4	NP_000370.2:p.(Lys1313Glu)	NC_000002.11:g.31560521T>C	(Likely) benign	1 lab	5239447edf
5:125890067 ALDH7A1 G>A	5	125890067	125890067	G	A	ALDH7A1	c.1112C>T	NM_001182.5	NP_001173.2:p.(Pro371Leu)	NC_000005.9:g.125890067G>A	(Likely) pathogenic	1 lab	5239f6d595
22:50894993 SBF1 G>T	22	50894993	50894993	G	T	SBF1	c.4014C>A	NM_002972.4	NP_002963.2:p.(Gly1338=)	NC_000022.10:g.50894993G>T	(Likely) benign	1 lab	523d1a9edf
15:90176239 KIF7 T>TAGGG	15	90176239	90176256	T	TAGGG	KIF7	c.2719-16_2719-13dup	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176253_90176256dup	(Likely) benign	1 lab	523f156c81
3:25805804 NGLY1 T>C	3	25805804	25805804	T	C	NGLY1	c.247-2A>G	NM_018297.4	NP_060767.2:p.?	NC_000003.11:g.25805804T>C	(Likely) pathogenic	1 lab	524249131f
12:15699498 PTPRO C>A	12	15699498	15699498	C	A	PTPRO	c.2165-5C>A	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15699498C>A	(Likely) benign	1 lab	524404afb0
2:179452720 TTN GT>G	2	179452720	179452724	GT	G	TTN	c.63413del	NM_001267550.2	NP_001254479.2:p.(Asn21138ThrfsTer22)	NC_000002.11:g.179452724del	(Likely) pathogenic	1 lab	524f16ba87
17:37922622 IKZF3 G>A	17	37922622	37922622	G	A	IKZF3	c.951C>T	NM_012481.5	NP_036613.2:p.(Ala317=)	NC_000017.10:g.37922622G>A	(Likely) benign	1 lab	525113edcb
15:26812780 GABRB3 C>T	15	26812780	26812780	C	T	GABRB3	c.783G>A	NM_000814.6	NP_000805.1:p.(Ser261=)	NC_000015.9:g.26812780C>T	(Likely) benign	1 lab	52532ab790
3:77614279 ROBO2 C>G	3	77614279	77614279	C	G	ROBO2	c.1849+8C>G	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77614279C>G	(Likely) benign	1 lab	525455cff1
1:65306948 JAK1 T>G	1	65306948	65306948	T	G	JAK1	c.2629A>C	NM_001321853.2	NP_001308782.1:p.(Arg877=)	NC_000001.10:g.65306948T>G	(Likely) benign	1 lab	52567611e3
9:101552645 ANKS6 G>A	9	101552645	101552645	G	A	ANKS6	c.603C>T	NM_173551.5	NP_775822.3:p.(His201=)	NC_000009.11:g.101552645G>A	(Likely) benign	1 lab	525a7e199b
6:32939556 BRD2 T>C	6	32939556	32939556	T	C	BRD2	c.-1120T>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32939556T>C	(Likely) benign	1 lab	525c0671e8
7:128483264 FLNC G>C	7	128483264	128483264	G	C	FLNC	c.2551-19G>C	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128483264G>C	(Likely) benign	1 lab	525de85b9d
12:103246654 PAH G>A	12	103246654	103246654	G	A	PAH	c.781C>T	NM_000277.3	NP_000268.1:p.(Arg261Ter)	NC_000012.11:g.103246654G>A	(Likely) pathogenic	1 lab	52646b8f99
16:3656665 SLX4 A>C	16	3656665	3656665	A	C	SLX4	c.570T>G	NM_032444.2	NP_115820.2:p.(Pro190=)	NC_000016.9:g.3656665A>C	(Likely) benign	1 lab	5264c32643
5:236556 SDHA T>G	5	236556	236556	T	G	SDHA	c.1274T>G	NM_004168.4	NP_004159.2:p.(Val425Gly)	NC_000005.9:g.236556T>G	(Likely) benign	1 lab	cf471448ca
9:130582178 ENG C>T	9	130582178	130582178	C	T	ENG	c.1272+1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130582178C>T	(Likely) pathogenic	1 lab	52692f0999
2:202580328 ALS2 T>G	2	202580328	202580328	T	G	ALS2	c.4004+67A>C	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202580328T>G	(Likely) benign	1 lab	526c95efb3
2:20147985 WDR35 T>C	2	20147985	20147985	T	C	WDR35	c.1504-7A>G	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20147985T>C	(Likely) benign	1 lab	527567743b
5:88119539 MEF2C T>A	5	88119539	88119539	T	A	MEF2C	c.54+13A>T	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88119539T>A	(Likely) benign	1 lab	52756a0781
11:124766234 ROBO4 T>C	11	124766234	124766234	T	C	ROBO4	c.559-20A>G	NM_019055.6	NP_061928.4:p.?	NC_000011.9:g.124766234T>C	(Likely) benign	1 lab	527ab65679
19:49519942 LHB C>T	19	49519942	49519942	C	T	LHB	c.45G>A	NM_000894.2	NP_000885.1:p.(Met15Ile)	NC_000019.9:g.49519942C>T	(Likely) benign	1 lab	527cf02f2f
10:112581603 RBM20 G>T	10	112581603	112581603	G	T	RBM20	c.3226G>T	NM_001134363.1	NP_001127835.1:p.(Ala1076Ser)	NC_000010.10:g.112581603G>T	(Likely) benign	1 lab	5283365734
2:179483139 TTN T>TA	2	179483139	179483142	T	TA	TTN	c.47045dup	NM_001267550.1	NP_001254479.1:p.(Leu15682PhefsTer3)	NC_000002.11:g.179483142dup	(Likely) pathogenic	1 lab	5283c649ba
1:154573600 ADAR G>A	1	154573600	154573600	G	A	ADAR	c.633C>T	NM_001193495.2	NP_001180424.1:p.(Ser211=)	NC_000001.10:g.154573600G>A	(Likely) benign	1 lab	528776e568
16:3293361 MEFV A>C	16	3293361	3293361	A	C	MEFV	c.2126T>G	NM_000243.2	NP_000234.1:p.(Leu709Arg)	NC_000016.9:g.3293361A>C	VUS	1 lab	528881fa74
11:6415622 SMPD1 C>T	11	6415622	6415622	C	T	SMPD1	c.760C>T	NM_001318088.2	NP_001305017.1:p.(Arg254Cys)	NC_000011.9:g.6415622C>T	VUS	1 lab	5289aafb24
9:740769 KANK1 CT>C	9	740769	740787	CT	C	KANK1	c.3554-5del	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740787del	(Likely) benign	1 lab	528ef609a4
17:80403807 CYBC1 C>T	17	80403807	80403807	C	T	CYBC1	c.231G>A	NM_001033046.4	NP_001028218.1:p.(Lys77=)	NC_000017.10:g.80403807C>T	(Likely) benign	1 lab	5298ae2695
9:133755560 ABL1 C>T	9	133755560	133755560	C	T	ABL1	c.1570+16C>T	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133755560C>T	(Likely) benign	1 lab	52a2db5006
7:193205 FAM20C G>A	7	193205	193205	G	A	FAM20C	c.6G>A	NM_020223.4	NP_064608.2:p.(Lys2=)	NC_000007.13:g.193205G>A	(Likely) benign	1 lab	52a4ffbbc6
2:113875513 IL1RN G>A	2	113875513	113875513	G	A	IL1RN				NC_000002.11:g.113875513G>A	(Likely) benign	1 lab	57b455eef8
13:32930372 BRCA2 AT>A	13	32930372	32930382	AT	A	BRCA2	c.7436-183del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930382del	(Likely) benign	1 lab	52a6b0de2e
16:81117832 GCSH C>A	16	81117832	81117832	C	A	GCSH	c.424+236G>T	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81117832C>A	(Likely) benign	1 lab	52aed5c121
9:94486817 ROR2 C>T	9	94486817	94486817	C	T	ROR2	c.1959G>A	NM_004560.4	NP_004551.2:p.(Leu653=)	NC_000009.11:g.94486817C>T	(Likely) benign	1 lab	52b141c2ed
1:237711759 RYR2 G>T	1	237711759	237711759	G	T	RYR2	c.2935G>T	NM_001035.3	NP_001026.2:p.(Ala979Ser)	NC_000001.10:g.237711759G>T	(Likely) benign	1 lab	52b8fb6396
2:166852680 SCN1A T>C	2	166852680	166852680	T	C	SCN1A	c.4477-53A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166852680T>C	(Likely) benign	1 lab	52bea210fe
5:142662342 NR3C1 CT>C	5	142662342	142662358	CT	C	NR3C1	c.2024-53del	NM_000176.3	NP_000167.1:p.?	NC_000005.9:g.142662358del	(Likely) benign	1 lab	52bfafe0b7
X:47070468 UBA1 A>C	X	47070468	47070468	A	C	UBA1	c.2308A>C	NM_003334.4	NP_003325.2:p.(Asn770His)	NC_000023.10:g.47070468A>C	(Likely) benign	1 lab	52bfe48913
16:27709724 KATNIP A>T	16	27709724	27709724	A	T	KATNIP	c.1016A>T	NM_015202.3	NP_056017.3:p.(Asp339Val)	NC_000016.9:g.27709724A>T	(Likely) benign	1 lab	52c27e685d
16:2162394 PKD1 G>A	16	2162394	2162394	G	A	PKD1	c.3242C>T	NM_001009944.2	NP_001009944.2:p.(Ser1081Leu)	NC_000016.9:g.2162394G>A	(Likely) benign	1 lab	52c2b791d9
4:2814148 SH3BP2 A>G	4	2814148	2814148	A	G	SH3BP2	c.24A>G	NM_001145855.2	NP_001139327.1:p.(Thr8=)	NC_000004.11:g.2814148A>G	(Likely) benign	1 lab	52d14056fb
13:39450584 FREM2 A>T	13	39450584	39450584	A	T	FREM2	c.8544+65A>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39450584A>T	(Likely) benign	1 lab	54106e2dc0
X:67417121 OPHN1 A>T	X	67417121	67417121	A	T	OPHN1	c.1026-15T>A	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67417121A>T	(Likely) benign	1 lab	52d3f8cd8f
10:16893332 CUBN T>C	10	16893332	16893332	T	C	CUBN	c.9565A>G	NM_001081.3	NP_001072.2:p.(Ile3189Val)	NC_000010.10:g.16893332T>C	(Likely) benign	1 lab	52d59201c2
16:3722827 TRAP1 G>A	16	3722827	3722827	G	A	TRAP1	c.1045-6C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3722827G>A	(Likely) benign	1 lab	52d605a536
16:56947294 SLC12A3 G>A	16	56947294	56947294	G	A	SLC12A3	c.3070G>A	NM_000339.3	NP_000330.3:p.(Val1024Met)	NC_000016.9:g.56947294G>A	(Likely) pathogenic	1 lab	52dd77d282
1:160012104 KCNJ10 C>T	1	160012104	160012104	C	T	KCNJ10	c.219G>A	NM_002241.5	NP_002232.2:p.(Ala73=)	NC_000001.10:g.160012104C>T	(Likely) benign	1 lab	52e5567cb4
3:151055966 P2RY12 G>A	3	151055966	151055966	G	A	P2RY12	c.668C>T	NM_022788.4	NP_073625.1:p.(Thr223Met)	NC_000003.11:g.151055966G>A	(Likely) benign	1 lab	52e8b90088
14:76447058 TGFB3 G>A	14	76447058	76447058	G	A	TGFB3	c.179C>T	NM_003239.2	NP_003230.1:p.(Thr60Met)	NC_000014.8:g.76447058G>A	(Likely) benign	1 lab	52ec63cbfd
6:7584430 DSP T>C	6	7584430	7584430	T	C	DSP	c.6935T>C	NM_004415.2	NP_004406.2:p.(Val2312Ala)	NC_000006.11:g.7584430T>C	VUS	1 lab	52ee6dad69
X:154134729 F8 G>T	X	154134729	154134729	G	T	F8	c.5339C>A	NM_000132.3	NP_000123.1:p.(Pro1780Gln)	NC_000023.10:g.154134729G>T	VUS	1 lab	52eec69ca4
9:130580401 ENG G>A	9	130580401	130580401	G	A	ENG	c.1684C>T	NM_000118.3	NP_000109.1:p.(Gln562Ter)	NC_000009.11:g.130580401G>A	(Likely) pathogenic	1 lab	52f01e4a25
22:37903883 CARD10 C>T	22	37903883	37903883	C	T	CARD10	c.1144G>A	NM_014550.4	NP_055365.2:p.(Ala382Thr)	NC_000022.10:g.37903883C>T	(Likely) benign	1 lab	52f2064429
9:14776027 FREM1 C>T	9	14776027	14776027	C	T	FREM1	c.4617G>A	NM_144966.5	NP_659403.4:p.(Ala1539=)	NC_000009.11:g.14776027C>T	(Likely) benign	1 lab	52fd1a5fc6
2:179602822 TTN T>C	2	179602822	179602822	T	C	TTN	c.13644A>G	NM_133432.3	NP_597676.3:p.(Thr4548=)	NC_000002.11:g.179602822T>C	(Likely) benign	1 lab	530184c695
16:1265385 CACNA1H C>T	16	1265385	1265385	C	T	CACNA1H	c.5173+10C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1265385C>T	(Likely) benign	1 lab	5305f8fc28
13:43155281 TNFSF11 C>T	13	43155281	43155281	C	T	TNFSF11	c.239C>T	NM_003701.4	NP_003692.1:p.(Ser80Leu)	NC_000013.10:g.43155281C>T	(Likely) benign	1 lab	5307ce2692
2:168102391 XIRP2 C>T	2	168102391	168102391	C	T	XIRP2	c.4489C>T	NM_152381.6	NP_689594.4:p.(Arg1497Ter)	NC_000002.11:g.168102391C>T	(Likely) pathogenic	1 lab	530af82b92
4:106157967 TET2 C>G	4	106157967	106157967	C	G	TET2	c.2868C>G	NM_001127208.2	NP_001120680.1:p.(Leu956=)	NC_000004.11:g.106157967C>G	(Likely) benign	1 lab	530fe22884
4:79328729 FRAS1 T>TA	4	79328729	79328739	T	TA	FRAS1	c.4130-78dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79328739dup	(Likely) benign	1 lab	5310f09afb
X:12939657 TLR8 T>C	X	12939657	12939657	T	C	TLR8	c.2498T>C	NM_138636.5	NP_619542.1:p.(Phe833Ser)	NC_000023.10:g.12939657T>C	(Likely) benign	1 lab	531b21729d
16:67688351 CARMIL2 C>T	16	67688351	67688351	C	T	CARMIL2	c.3338C>T	NM_001013838.3	NP_001013860.1:p.(Pro1113Leu)	NC_000016.9:g.67688351C>T	VUS	1 lab	531b814ea1
11:108142137 ATM G>A	11	108142137	108142137	G	A	ATM	c.3077+4G>A	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108142137G>A	(Likely) benign	1 lab	53279ad2ce
13:39438223 FREM2 C>T	13	39438223	39438223	C	T	FREM2	c.7652-189C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39438223C>T	(Likely) benign	1 lab	5328878eac
13:115090509 CHAMP1 C>T	13	115090509	115090509	C	T	CHAMP1	c.1192C>T	NM_032436.4	NP_115812.1:p.(Arg398Ter)	NC_000013.10:g.115090509C>T	(Likely) pathogenic	1 lab	5328dc0a35
19:856047 ELANE C>T	19	856047	856047	C	T	ELANE	c.687C>T	NM_001972.2	NP_001963.1:p.(Pro229=)	NC_000019.9:g.856047C>T	(Likely) benign	1 lab	532a8de6c5
4:15602772 CC2D2A AC>A	4	15602772	15602773	AC	A	CC2D2A	c.4675-87del	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15602773del	(Likely) benign	1 lab	532c9598f7
20:61992347 CHRNA4 G>A	20	61992347	61992347	G	A	CHRNA4	c.76+95C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61992347G>A	(Likely) benign	1 lab	5330f118b6
9:95526667 BICD2 G>C	9	95526667	95526667	G	C	BICD2	c.240+120C>G	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95526667G>C	(Likely) benign	1 lab	5336088a38
19:55663225 TNNI3 G>A	19	55663225	55663225	G	A	TNNI3	c.610C>T	NM_000363.4	NP_000354.4:p.(Arg204Cys)	NC_000019.9:g.55663225G>A	VUS	1 lab	5339dca636
15:51868380 DMXL2 TA>T	15	51868380	51868400	TA	T	DMXL2	c.88-3del	NM_001378457.1	NP_001365386.1:p.?	NC_000015.9:g.51868400del	(Likely) benign	1 lab	533f9afe0e
1:120284440 PHGDH G>A	1	120284440	120284440	G	A	PHGDH	c.1129G>A	NM_006623.4	NP_006614.2:p.(Gly377Ser)	NC_000001.10:g.120284440G>A	(Likely) pathogenic	1 lab	533fce6ba1
14:65239645 SPTB CAA>C	14	65239645	65239648	CAA	C	SPTB	c.5204_5205del	NM_001355436.2	NP_001342365.1:p.(Phe1735CysfsTer52)	NC_000014.8:g.65239647_65239648del	(Likely) pathogenic	1 lab	53405b3b0e
16:2150418 PKD1 G>A	16	2150418	2150418	G	A	PKD1	c.9547C>T	NM_001009944.2	NP_001009944.2:p.(Arg3183Ter)	NC_000016.9:g.2150418G>A	(Likely) pathogenic	1 lab	5340c86b55
15:72039352 THSD4 G>A	15	72039352	72039352	G	A	THSD4	c.1132G>A	NM_001286429.2	NP_001273358.1:p.(Glu378Lys)	NC_000015.9:g.72039352G>A	VUS	1 lab	5340db7d9d
9:138676379 KCNT1 A>T	9	138676379	138676379	A	T	KCNT1	c.2944-2A>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676379A>T	(Likely) pathogenic	1 lab	5348a0b381
11:62400113 GANAB G>C	11	62400113	62400113	G	C	GANAB	c.986C>G	NM_198335.4	NP_938149.2:p.(Pro329Arg)	NC_000011.9:g.62400113G>C	(Likely) benign	1 lab	534f2b2efc
2:168110534 XIRP2 A>G	2	168110534	168110534	A	G	XIRP2	c.10556-8A>G	NM_152381.6	NP_689594.4:p.?	NC_000002.11:g.168110534A>G	(Likely) benign	1 lab	53549fc41d
8:74893452 TMEM70 A>G	8	74893452	74893452	A	G	TMEM70	c.379A>G	NM_017866.6	NP_060336.3:p.(Thr127Ala)	NC_000008.10:g.74893452A>G	(Likely) benign	1 lab	535a9f51a6
22:32205630 DEPDC5 A>G	22	32205630	32205630	A	G	DEPDC5	c.1321A>G	NM_001242896.3	NP_001229825.1:p.(Thr441Ala)	NC_000022.10:g.32205630A>G	(Likely) benign	1 lab	535e5139ed
5:150036622 SYNPO C>T	5	150036622	150036622	C	T	SYNPO	c.2685C>T	NM_007286.6	NP_009217.3:p.(Leu895=)	NC_000005.9:g.150036622C>T	(Likely) benign	1 lab	5360c3e40e
3:168845828 MECOM C>T	3	168845828	168845828	C	T	MECOM	c.70G>A	NM_001105078.4	NP_001098548.2:p.(Glu24Lys)	NC_000003.11:g.168845828C>T	(Likely) benign	1 lab	5362f07ca2
17:36047404 HNF1B A>T	17	36047404	36047404	A	T	HNF1B	c.1654-9T>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047404A>T	(Likely) benign	1 lab	536a74578e
10:97990582 BLNK C>T	10	97990582	97990582	C	T	BLNK	c.172G>A	NM_013314.3	NP_037446.1:p.(Ala58Thr)	NC_000010.10:g.97990582C>T	(Likely) benign	1 lab	536d09ccf8
7:77649085 MAGI2 C>T	7	77649085	77649085	C	T	MAGI2	c.3915G>A	NM_012301.4	NP_036433.2:p.(Gln1305=)	NC_000007.13:g.77649085C>T	(Likely) benign	1 lab	536e038642
19:10270748 DNMT1 A>G	19	10270748	10270748	A	G	DNMT1	c.1044-9T>C	NM_001130823.1	NP_001124295.1:p.?	NC_000019.9:g.10270748A>G	(Likely) benign	1 lab	536e6ebf98
7:66104167 KCTD7 A>T	7	66104167	66104167	A	T	KCTD7	c.818A>T	NM_153033.4	NP_694578.1:p.(Asn273Ile)	NC_000007.13:g.66104167A>T	(Likely) pathogenic	1 lab	536f18183f
9:77416755 TRPM6 G>C	9	77416755	77416755	G	C	TRPM6	c.2009+59C>G	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77416755G>C	(Likely) benign	1 lab	537b61866c
5:67593394 PIK3R1 C>T	5	67593394	67593394	C	T	PIK3R1	c.2140C>T	NM_181523.3	NP_852664.1:p.(Leu714=)	NC_000005.9:g.67593394C>T	(Likely) benign	1 lab	537eb2acc1
15:42681131 CAPN3 A>G	15	42681131	42681131	A	G	CAPN3	c.638A>G	NM_000070.3	NP_000061.1:p.(His213Arg)	NC_000015.9:g.42681131A>G	(Likely) pathogenic	1 lab	537f4d7b69
5:55202007 IL31RA T>C	5	55202007	55202007	T	C	IL31RA	c.1143T>C	NM_139017.6	NP_620586.3:p.(Ala381=)	NC_000005.9:g.55202007T>C	(Likely) benign	1 lab	5385a0b1ff
20:44658039 SLC12A5 A>C	20	44658039	44658039	A	C	SLC12A5	c.52+4A>C	NM_020708.5	NP_065759.1:p.?	NC_000020.10:g.44658039A>C	(Likely) benign	1 lab	53867409b8
1:237670025 RYR2 C>T	1	237670025	237670025	C	T	RYR2	c.2629C>T	NM_001035.3	NP_001026.2:p.(His877Tyr)	NC_000001.10:g.237670025C>T	VUS	1 lab	538c7f4e2d
19:10829020 DNM2 C>A	19	10829020	10829020	C	A	DNM2	c.102C>A	NM_001005360.2	NP_001005360.1:p.(Ile34=)	NC_000019.9:g.10829020C>A	(Likely) benign	1 lab	53904f59ba
7:157202657 DNAJB6 G>A	7	157202657	157202657	G	A	DNAJB6	c.860G>A	NM_058246.4	NP_490647.1:p.(Arg287Gln)	NC_000007.13:g.157202657G>A	(Likely) benign	1 lab	5393f32dbf
8:17486282 PDGFRL T>C	8	17486282	17486282	T	C	PDGFRL	c.792=	NM_006207.2	NP_006198.1:p.(Tyr264=)	NC_000008.10:g.17486282T>C	(Likely) benign	1 lab	cf522d7300
2:152728595 CACNB4 T>A	2	152728595	152728595	T	A	CACNB4	c.496+336A>T	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152728595T>A	(Likely) benign	1 lab	53974e5546
5:161520942 GABRG2 C>A	5	161520942	161520942	C	A	GABRG2				NC_000005.9:g.161520942C>A	(Likely) benign	1 lab	539916c38a
21:34805193 IFNGR2 ATC>A	21	34805193	34805198	ATC	A	IFNGR2	c.879+19_879+20del	NM_005534.4	NP_005525.2:p.?	NC_000021.8:g.34805197_34805198del	(Likely) benign	1 lab	539f0fbad8
16:3304329 MEFV T>C	16	3304329	3304329	T	C	MEFV	c.739A>G	NM_000243.2	NP_000234.1:p.(Ile247Val)	NC_000016.9:g.3304329T>C	VUS	1 lab	539fedab11
16:2161315 PKD1 G>A	16	2161315	2161315	G	A	PKD1	c.3853C>T	NM_001009944.2	NP_001009944.2:p.(Arg1285Trp)	NC_000016.9:g.2161315G>A	(Likely) benign	1 lab	53a0f7568f
9:740853 KANK1 C>T	9	740853	740853	C	T	KANK1	c.3615C>T	NM_015158.4	NP_055973.2:p.(Leu1205=)	NC_000009.11:g.740853C>T	(Likely) benign	1 lab	53a3400401
2:169801111 ABCB11 T>G	2	169801111	169801111	T	G	ABCB11	c.2610+4A>C	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169801111T>G	VUS	1 lab	53a3a61b02
16:3297089 MEFV T>C	16	3297089	3297089	T	C	MEFV	c.1514A>G	NM_000243.2	NP_000234.1:p.(Asp505Gly)	NC_000016.9:g.3297089T>C	VUS	1 lab	53a57e90eb
5:40950019 C7 C>T	5	40950019	40950019	C	T	C7	c.996C>T	NM_000587.2	NP_000578.2:p.(Val332=)	NC_000005.9:g.40950019C>T	(Likely) benign	1 lab	53a803f6b8
14:76488655 IFT43 T>C	14	76488655	76488655	T	C	IFT43	c.148-15T>C	NM_052873.3	NP_443105.2:p.?	NC_000014.8:g.76488655T>C	(Likely) benign	1 lab	53a8eb6bbc
1:237806619 RYR2 C>T	1	237806619	237806619	C	T	RYR2	c.7222-8C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237806619C>T	(Likely) benign	1 lab	53a9b18ea8
18:28986333 DSG4 A>C	18	28986333	28986333	A	C	DSG4	c.1930A>C	NM_001134453.3	NP_001127925.1:p.(Ile644Leu)	NC_000018.9:g.28986333A>C	(Likely) benign	1 lab	cf57a6a238
13:23908007 SACS T>C	13	23908007	23908007	T	C	SACS	c.10008A>G	NM_014363.6	NP_055178.3:p.(Lys3336=)	NC_000013.10:g.23908007T>C	(Likely) benign	1 lab	53abac725b
6:32937031 BRD2 C>T	6	32937031	32937031	C	T	BRD2	c.-1305+198C>T	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32937031C>T	(Likely) benign	1 lab	5523d5512d
6:129591876 LAMA2 A>C	6	129591876	129591876	A	C	LAMA2	c.2430A>C	NM_000426.3	NP_000417.2:p.(Pro810=)	NC_000006.11:g.129591876A>C	(Likely) benign	1 lab	53b2297ad1
4:79340265 FRAS1 G>A	4	79340265	79340265	G	A	FRAS1	c.4540+48G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79340265G>A	(Likely) benign	1 lab	53b35f7803
1:3322156 PRDM16 C>T	1	3322156	3322156	C	T	PRDM16	c.1130C>T	NM_022114.4	NP_071397.3:p.(Thr377Met)	NC_000001.10:g.3322156C>T	VUS	1 lab	53b51f057f
13:52511468 ATP7B C>G	13	52511468	52511468	C	G	ATP7B	c.3965G>C	NM_000053.4	NP_000044.2:p.(Arg1322Pro)	NC_000013.10:g.52511468C>G	(Likely) pathogenic	1 lab	53b776958a
19:38782485 SPINT2 G>C	19	38782485	38782485	G	C	SPINT2	c.598G>C	NM_021102.4	NP_066925.1:p.(Val200Leu)	NC_000019.9:g.38782485G>C	(Likely) benign	1 lab	53bd3e5e1a
2:15555826 NBAS A>G	2	15555826	15555826	A	G	NBAS	c.2781T>C	NM_015909.4	NP_056993.2:p.(Tyr927=)	NC_000002.11:g.15555826A>G	(Likely) benign	1 lab	53c0e275d7
X:128926729 SASH3 G>A	X	128926729	128926729	G	A	SASH3	c.718G>A	NM_018990.4	NP_061863.1:p.(Ala240Thr)	NC_000023.10:g.128926729G>A	(Likely) benign	1 lab	53c18b774d
10:97074865 SORBS1 T>C	10	97074865	97074865	T	C	SORBS1	c.3752A>G	NM_001290294.2	NP_001277223.2:p.(Lys1251Arg)	NC_000010.10:g.97074865T>C	(Likely) benign	1 lab	53c3ac1760
9:32986053 APTX C>A	9	32986053	32986053	C	A	APTX	c.484-25G>T	NM_001195249.1	NP_001182178.1:p.?	NC_000009.11:g.32986053C>A	(Likely) benign	1 lab	53c70f4b36
7:143039311 CLCN1 A>G	7	143039311	143039311	A	G	CLCN1	c.1796+76A>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143039311A>G	(Likely) benign	1 lab	53cada5541
8:77765865 ZFHX4 C>T	8	77765865	77765865	C	T	ZFHX4	c.6708C>T	NM_024721.5	NP_078997.4:p.(Tyr2236=)	NC_000008.10:g.77765865C>T	(Likely) benign	1 lab	cf5a391015
19:1005298 GRIN3B C>T	19	1005298	1005298	C	T	GRIN3B	c.1798C>T	NM_138690.3	NP_619635.1:p.(Pro600Ser)	NC_000019.9:g.1005298C>T	VUS	1 lab	cf600973e5
3:39228772 XIRP1 G>A	3	39228772	39228772	G	A	XIRP1	c.2165C>T	NM_194293.4	NP_919269.2:p.(Ala722Val)	NC_000003.11:g.39228772G>A	(Likely) benign	1 lab	53cdf79331
8:77896354 PEX2 C>T	8	77896354	77896354	C	T	PEX2	c.61G>A	NM_001172086.2	NP_001165557.2:p.(Asp21Asn)	NC_000008.10:g.77896354C>T	VUS	1 lab	cf68c0a658
1:206634526 MISSING T>A	1	206634526	206634526	T	A	MISSING				NC_000001.10:g.206634526T>A	(Likely) benign	1 lab	586ed63c38
1:3350294 PRDM16 C>T	1	3350294	3350294	C	T	PRDM16	c.3750C>T	NM_022114.4	NP_071397.3:p.(Ser1250=)	NC_000001.10:g.3350294C>T	(Likely) benign	1 lab	cf693da37f
18:52937203 TCF4 A>G	18	52937203	52937203	A	G	TCF4	c.790-9T>C	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52937203A>G	(Likely) benign	1 lab	53d602662b
5:94842619 SKIC3 G>C	5	94842619	94842619	G	C	SKIC3	c.3092+19C>G	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94842619G>C	(Likely) benign	1 lab	53dc2be195
2:27676836 IFT172 T>A	2	27676836	27676836	T	A	IFT172	c.3711+13A>T	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27676836T>A	(Likely) benign	1 lab	53de68bf61
16:15802693 MYH11 G>C	16	15802693	15802693	G	C	MYH11	c.5813C>G	NM_001040113.2	NP_001035202.1:p.(Pro1938Arg)	NC_000016.9:g.15802693G>C	VUS	1 lab	54102285af
2:168105327 XIRP2 G>A	2	168105327	168105327	G	A	XIRP2	c.7425G>A	NM_152381.6	NP_689594.4:p.(Thr2475=)	NC_000002.11:g.168105327G>A	(Likely) benign	1 lab	53df94606f
16:56919191 SLC12A3 T>C	16	56919191	56919191	T	C	SLC12A3	c.1840T>C	NM_000339.3	NP_000330.3:p.(Ser614Pro)	NC_000016.9:g.56919191T>C	(Likely) pathogenic	1 lab	53cc0e6033
12:111057747 TCTN1 A>G	12	111057747	111057747	A	G	TCTN1	c.327A>G	NM_001082538.3	NP_001076007.1:p.(Ser109=)	NC_000012.11:g.111057747A>G	(Likely) benign	1 lab	53e10b9cc8
6:35280183 DEF6 C>T	6	35280183	35280183	C	T	DEF6	c.528C>T	NM_022047.4	NP_071330.3:p.(Thr176=)	NC_000006.11:g.35280183C>T	(Likely) benign	1 lab	53e555ecf0
1:112319841 KCND3 T>C	1	112319841	112319841	T	C	KCND3	c.1573A>G	NM_004980.4	NP_004971.2:p.(Met525Val)	NC_000001.10:g.112319841T>C	(Likely) benign	1 lab	53edabb671
22:32217539 DEPDC5 C>T	22	32217539	32217539	C	T	DEPDC5	c.1922C>T	NM_001242896.3	NP_001229825.1:p.(Ala641Val)	NC_000022.10:g.32217539C>T	(Likely) benign	1 lab	53ee3567fa
12:110017668 MVK CT>C	12	110017668	110017670	CT	C	MVK	c.290del	NM_000431.4	NP_000422.1:p.(Leu97CysfsTer36)	NC_000012.11:g.110017670del	(Likely) pathogenic	1 lab	53f2d83c46
X:135115669 SLC9A6 GA>G	X	135115669	135115680	GA	G	SLC9A6	c.1661+28del	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135115680del	(Likely) benign	1 lab	53f6806175
7:128488749 FLNC G>A	7	128488749	128488749	G	A	FLNC	c.4715G>A	NM_001458.5	NP_001449.3:p.(Gly1572Glu)	NC_000007.13:g.128488749G>A	VUS	1 lab	cf6a28de91
6:35278254 DEF6 G>C	6	35278254	35278254	G	C	DEF6	c.256G>C	NM_022047.4	NP_071330.3:p.(Val86Leu)	NC_000006.11:g.35278254G>C	(Likely) benign	1 lab	540120005b
12:53825008 AMHR2 C>G	12	53825008	53825008	C	G	AMHR2	c.1473C>G	NM_020547.3	NP_065434.1:p.(Asp491Glu)	NC_000012.11:g.53825008C>G	(Likely) pathogenic	1 lab	540373fa1b
18:19085500 GREB1L T>C	18	19085500	19085500	T	C	GREB1L	c.4200T>C	NM_001142966.2	NP_001136438.1:p.(Tyr1400=)	NC_000018.9:g.19085500T>C	(Likely) benign	1 lab	54047d1829
15:80467375 FAH G>A	15	80467375	80467375	G	A	FAH	c.855G>A	NM_000137.4	NP_000128.1:p.(Pro285=)	NC_000015.9:g.80467375G>A	(Likely) benign	1 lab	54073eff9f
1:247608148 NLRP3 C>T	1	247608148	247608148	C	T	NLRP3	c.3005+25C>T	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247608148C>T	(Likely) benign	1 lab	5407767770
5:67575513 PIK3R1 C>T	5	67575513	67575513	C	T	PIK3R1	c.586C>T	NM_181523.3	NP_852664.1:p.(Pro196Ser)	NC_000005.9:g.67575513C>T	(Likely) benign	1 lab	542343dc17
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTTTTTGTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTTTTTGTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTGTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTTTTTGTT	(Likely) benign	1 lab	5407b3ff5a
1:198711169 PTPRC AC>A	1	198711169	198711170	AC	A	PTPRC	c.2561+15del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198711170del	(Likely) benign	1 lab	540a4d67fb
1:152282426 FLG A>G	1	152282426	152282426	A	G	FLG	c.4936T>C	NM_002016.2	NP_002007.1:p.(Ser1646Pro)	NC_000001.10:g.152282426A>G	VUS	1 lab	cf6bf82b81
1:16052022 PLEKHM2 C>G	1	16052022	16052022	C	G	PLEKHM2	c.923C>G	NM_015164.4	NP_055979.2:p.(Thr308Arg)	NC_000001.10:g.16052022C>G	VUS	1 lab	540c744c3b
X:18911606 PHKA2 T>C	X	18911606	18911606	T	C	PHKA2	c.3705A>G	NM_000292.3	NP_000283.1:p.(Gln1235=)	NC_000023.10:g.18911606T>C	(Likely) benign	1 lab	540e14ca6a
15:93563371 CHD2 G>A	15	93563371	93563371	G	A	CHD2	c.5036G>A	NM_001271.4	NP_001262.3:p.(Arg1679Gln)	NC_000015.9:g.93563371G>A	(Likely) benign	1 lab	540ebabe3e
1:198697591 PTPRC T>A	1	198697591	198697591	T	A	PTPRC	c.1829+14T>A	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198697591T>A	(Likely) benign	1 lab	540fb89906
20:1961102 PDYN A>C	20	1961102	1961102	A	C	PDYN	c.632T>G	NM_024411.5	NP_077722.1:p.(Leu211Trp)	NC_000020.10:g.1961102A>C	(Likely) pathogenic	1 lab	5412830e3c
7:140434586 BRAF G>GAAAAAAA	7	140434586	140434596	G	GAAAAAAA	BRAF	c.2128-23_2128-17dup	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140434590_140434596dup	(Likely) benign	1 lab	54158f79d2
5:169098197 DOCK2 C>T	5	169098197	169098197	C	T	DOCK2	c.321+19C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169098197C>T	(Likely) benign	1 lab	5417107d12
6:7542226 DSP G>T	6	7542226	7542226	G	T	DSP	c.78G>T	NM_004415.2	NP_004406.2:p.(Leu26=)	NC_000006.11:g.7542226G>T	(Likely) benign	1 lab	54195f56b0
19:55450909 NLRP7 C>T	19	55450909	55450909	C	T	NLRP7	c.1278G>A	NM_001127255.1	NP_001120727.1:p.(Gln426=)	NC_000019.9:g.55450909C>T	(Likely) benign	1 lab	541b4f1231
10:15559199 ITGA8 G>T	10	15559199	15559199	G	T	ITGA8	c.3150C>A	NM_003638.3	NP_003629.2:p.(Thr1050=)	NC_000010.10:g.15559199G>T	(Likely) benign	1 lab	541d9a16d0
6:31916985 CFB T>A	6	31916985	31916985	T	A	CFB	c.1169-35T>A	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31916985T>A	(Likely) benign	1 lab	5426c0248e
5:37212593 CPLANE1 A>AT	5	37212593	37212594	A	AT	CPLANE1	c.2920+1067_2920+1068insA	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37212593_37212594insT	(Likely) benign	1 lab	542dec1500
16:10992793 CIITA C>A	16	10992793	10992793	C	A	CIITA	c.370C>A	NM_000246.3	NP_000237.2:p.(Pro124Thr)	NC_000016.9:g.10992793C>A	(Likely) benign	1 lab	542f1b717d
18:28669424 DSC2 C>T	18	28669424	28669424	C	T	DSC2	c.608G>A	NM_004949.3	NP_004940.1:p.(Arg203His)	NC_000018.9:g.28669424C>T	(Likely) pathogenic	1 lab	5433d3c5c0
2:166210666 SCN2A A>G	2	166210666	166210666	A	G	SCN2A	c.2920-36A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166210666A>G	(Likely) benign	1 lab	5436c40f2b
7:139572132 TBXAS1 G>A	7	139572132	139572132	G	A	TBXAS1	c.183+5G>A	NM_001061.7	NP_001052.3:p.?	NC_000007.13:g.139572132G>A	(Likely) benign	1 lab	543c2964ce
17:78162146 CARD14 C>T	17	78162146	78162146	C	T	CARD14	c.676-30C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78162146C>T	(Likely) benign	1 lab	543d0ea7d1
18:2937974 LPIN2 T>C	18	2937974	2937974	T	C	LPIN2	c.884A>G	NM_014646.2	NP_055461.1:p.(Asn295Ser)	NC_000018.9:g.2937974T>C	VUS	1 lab	cf6cdca931
20:57019259 VAPB G>A	20	57019259	57019259	G	A	VAPB	c.700G>A	NM_004738.4	NP_004729.1:p.(Val234Ile)	NC_000020.10:g.57019259G>A	VUS	1 lab	543e7f3950
7:143029371 CLCN1 G>T	7	143029371	143029371	G	T	CLCN1	c.1167-141G>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143029371G>T	(Likely) benign	1 lab	544ecfb869
4:79353749 FRAS1 T>C	4	79353749	79353749	T	C	FRAS1	c.5208T>C	NM_025074.7	NP_079350.5:p.(Leu1736=)	NC_000004.11:g.79353749T>C	(Likely) benign	1 lab	54541d51f3
22:17583012 IL17RA G>A	22	17583012	17583012	G	A	IL17RA	c.599-17G>A	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17583012G>A	(Likely) benign	1 lab	58b6b33e79
3:9969996 IL17RC C>T	3	9969996	9969996	C	T	IL17RC	c.1098C>T	NM_153461.4	NP_703191.2:p.(Arg366=)	NC_000003.11:g.9969996C>T	(Likely) benign	1 lab	54565305c7
8:41834547 KAT6A T>C	8	41834547	41834547	T	C	KAT6A	c.1342A>G	NM_006766.5	NP_006757.2:p.(Ser448Gly)	NC_000008.10:g.41834547T>C	(Likely) benign	1 lab	545ac1c490
11:108143337 ATM G>A	11	108143337	108143337	G	A	ATM	c.3153+3G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108143337G>A	VUS	1 lab	5461983132
20:60893538 LAMA5 C>G	20	60893538	60893538	C	G	LAMA5	c.7211G>C	NM_005560.4	NP_005551.3:p.(Arg2404Pro)	NC_000020.10:g.60893538C>G	(Likely) benign	1 lab	54695b6b5a
17:73738802 ITGB4 C>T	17	73738802	73738802	C	T	ITGB4	c.2922C>T	NM_000213.5	NP_000204.3:p.(Leu974=)	NC_000017.10:g.73738802C>T	(Likely) benign	1 lab	546b59f6b2
X:31676230 DMD G>A	X	31676230	31676230	G	A	DMD	c.7535C>T	NM_004010.3	NP_004001.1:p.(Thr2512Ile)	NC_000023.10:g.31676230G>A	(Likely) benign	1 lab	54715afa60
4:146572222 MMAA C>T	4	146572222	146572222	C	T	MMAA	c.742C>T	NM_172250.3	NP_758454.1:p.(Gln248Ter)	NC_000004.11:g.146572222C>T	(Likely) pathogenic	1 lab	54728a475c
14:64691238 SYNE2 A>G	14	64691238	64691238	A	G	SYNE2	c.20442A>G	NM_182914.2	NP_878918.2:p.(Ala6814=)	NC_000014.8:g.64691238A>G	(Likely) benign	1 lab	5472c2e4d5
16:50745967 NOD2 C>T	16	50745967	50745967	C	T	NOD2	c.2145C>T	NM_022162.1	NP_071445.1:p.(Leu715=)	NC_000016.9:g.50745967C>T	(Likely) benign	1 lab	547604d2f7
18:2926704 LPIN2 G>A	18	2926704	2926704	G	A	LPIN2	c.1793+17C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2926704G>A	(Likely) benign	1 lab	5476c1c2d3
9:14747133 FREM1 T>C	9	14747133	14747133	T	C	FREM1	c.6010-84A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14747133T>C	(Likely) benign	1 lab	547755551c
2:39224570 SOS1 G>C	2	39224570	39224570	G	C	SOS1	c.2792-4C>G	NM_005633.3	NP_005624.2:p.?	NC_000002.11:g.39224570G>C	(Likely) benign	1 lab	5479fe7bc6
20:32005713 SNTA1 G>A	20	32005713	32005713	G	A	SNTA1	c.513C>T	NM_003098.2	NP_003089.1:p.(Asp171=)	NC_000020.10:g.32005713G>A	(Likely) benign	1 lab	547e459255
16:56899381 SLC12A3 G>GCC	16	56899381	56899385	G	GCC	SLC12A3	c.237_238dup	NM_000339.3	NP_000330.3:p.(Arg80ProfsTer35)	NC_000016.9:g.56899384_56899385dup	(Likely) pathogenic	1 lab	547f0e77ae
22:51123091 SHANK3 C>T	22	51123091	51123091	C	T	SHANK3	c.1255+12C>T	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51123091C>T	(Likely) benign	1 lab	54814bc2f6
1:43907236 SZT2 G>A	1	43907236	43907236	G	A	SZT2	c.7402G>A	NM_015284.4	NP_056099.3:p.(Val2468Ile)	NC_000001.10:g.43907236G>A	(Likely) benign	1 lab	548496f7b1
X:10182031 CLCN4 C>T	X	10182031	10182031	C	T	CLCN4	c.1887C>T	NM_001830.4	NP_001821.2:p.(Thr629=)	NC_000023.10:g.10182031C>T	(Likely) benign	1 lab	5487f910e8
1:11853987 MTHFR T>G	1	11853987	11853987	T	G	MTHFR	c.1507A>C	NM_005957.4	NP_005948.3:p.(Ser503Arg)	NC_000001.10:g.11853987T>G	(Likely) benign	1 lab	548f18039a
1:22447645 WNT4 C>CTG	1	22447645	22447647	C	CTG	WNT4	c.588+57_588+58dup	NM_030761.5	NP_110388.2:p.?	NC_000001.10:g.22447646_22447647dup	(Likely) benign	1 lab	549057c1e3
9:94821488 SPTLC1 T>C	9	94821488	94821488	T	C	SPTLC1	c.663A>G	NM_006415.2	NP_006406.1:p.(Leu221=)	NC_000009.11:g.94821488T>C	(Likely) benign	1 lab	5499027eb9
7:74197914 NCF1 G>A	7	74197914	74197914	G	A	NCF1	c.621G>A	NM_000265.6	NP_000256.4:p.(Ala207=)	NC_000007.13:g.74197914G>A	(Likely) benign	1 lab	549cae2625
2:216272860 FN1 C>T	2	216272860	216272860	C	T	FN1	c.2489G>A	NM_212482.2	NP_997647.1:p.(Arg830His)	NC_000002.11:g.216272860C>T	(Likely) benign	1 lab	54a12c86f4
16:56906327 SLC12A3 T>TC	16	56906327	56906333	T	TC	SLC12A3	c.923dup	NM_000339.3	NP_000330.3:p.(Ser309IlefsTer2)	NC_000016.9:g.56906333dup	(Likely) pathogenic	1 lab	54ae5154e4
1:201334311 TNNT2 A>G	1	201334311	201334311	A	G	TNNT2	c.381+8T>C	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201334311A>G	(Likely) benign	1 lab	54b78d5140
13:39424191 FREM2 C>T	13	39424191	39424191	C	T	FREM2	c.6396C>T	NM_207361.6	NP_997244.4:p.(Phe2132=)	NC_000013.10:g.39424191C>T	(Likely) benign	1 lab	54bbf45c6c
1:160090680 ATP1A2 TCC>T	1	160090680	160090683	TCC	T	ATP1A2	c.13-14_13-13del	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160090682_160090683del	(Likely) benign	1 lab	54c5150a06
X:100658899 GLA C>T	X	100658899	100658899	C	T	GLA	c.269G>A	NM_000169.2	NP_000160.1:p.(Cys90Tyr)	NC_000023.10:g.100658899C>T	(Likely) pathogenic	1 lab	54c5f738c3
17:41215919 BRCA1 C>T	17	41215919	41215919	C	T	BRCA1	c.5124G>A	NM_007294.3	NP_009225.1:p.(Ala1708=)	NC_000017.10:g.41215919C>T	(Likely) benign	1 lab	54c66ab3a0
8:68430332 CPA6 A>T	8	68430332	68430332	A	T	CPA6	c.193-50T>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68430332A>T	(Likely) benign	1 lab	54c8ce8c20
16:2159411 PKD1 G>GA	16	2159411	2159413	G	GA	PKD1	c.5756dup	NM_001009944.2	NP_001009944.2:p.(Arg1920ProfsTer70)	NC_000016.9:g.2159413dup	(Likely) pathogenic	1 lab	54c9e69a58
8:68423626 CPA6 C>T	8	68423626	68423626	C	T	CPA6	c.432+150G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68423626C>T	(Likely) benign	1 lab	54d91df049
X:53350134 IQSEC2 T>C	X	53350134	53350134	T	C	IQSEC2	c.188A>G	NM_001111125.3	NP_001104595.1:p.(Glu63Gly)	NC_000023.10:g.53350134T>C	(Likely) benign	1 lab	54db338ac9
19:41198270 COQ8B G>A	19	41198270	41198270	G	A	COQ8B	c.1305C>T	NM_024876.4	NP_079152.3:p.(Ser435=)	NC_000019.9:g.41198270G>A	(Likely) benign	1 lab	54df61f816
11:118922792 HYOU1 CCA>C	11	118922792	118922797	CCA	C	HYOU1	c.1205+8_1205+9del	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118922796_118922797del	(Likely) benign	1 lab	54e970be48
16:1255277 CACNA1H C>T	16	1255277	1255277	C	T	CACNA1H	c.2603+12C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1255277C>T	(Likely) benign	1 lab	54ea72b6ab
14:51062288 ATL1 T>C	14	51062288	51062288	T	C	ATL1	c.574-6T>C	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51062288T>C	(Likely) benign	1 lab	54ebcfcb23
16:81942017 PLCG2 C>A	16	81942017	81942017	C	A	PLCG2	c.1558-4C>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81942017C>A	(Likely) benign	1 lab	54ee7de769
11:108137943 ATM A>G	11	108137943	108137943	A	G	ATM	c.2512A>G	NM_000051.4	NP_000042.3:p.(Met838Val)	NC_000011.9:g.108137943A>G	VUS	1 lab	cf71fbf634
19:2112839 AP3D1 T>C	19	2112839	2112839	T	C	AP3D1	c.2787+20A>G	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2112839T>C	(Likely) benign	1 lab	54ff2ad868
10:102539262 PAX2 C>T	10	102539262	102539262	C	T	PAX2	c.418C>T	NM_003988.5	NP_003979.2:p.(Arg140Trp)	NC_000010.10:g.102539262C>T	(Likely) pathogenic	1 lab	54ff68c53d
11:8159843 RIC3 G>A	11	8159843	8159843	G	A	RIC3	c.403C>T	NM_001206671.4	NP_001193600.1:p.(Pro135Ser)	NC_000011.9:g.8159843G>A	(Likely) benign	1 lab	55064919a8
8:100569106 VPS13B T>TA	8	100569106	100569107	T	TA	VPS13B	c.5024+226dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100569107dup	(Likely) benign	1 lab	550c7f9eff
9:126129566 CRB2 C>T	9	126129566	126129566	C	T	CRB2	c.870C>T	NM_173689.7	NP_775960.4:p.(Ala290=)	NC_000009.11:g.126129566C>T	(Likely) benign	1 lab	550cc97784
3:196202202 RNF168 A>C	3	196202202	196202202	A	C	RNF168	c.681-19T>G	NM_152617.3	NP_689830.2:p.?	NC_000003.11:g.196202202A>C	(Likely) benign	1 lab	55105b70aa
4:79353759 FRAS1 G>A	4	79353759	79353759	G	A	FRAS1	c.5217+1G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79353759G>A	VUS	1 lab	5514c08f9c
12:95453762 NR2C1 TAAA>T	12	95453762	95453783	TAAA	T	NR2C1	c.286-5_286-3del	NM_003297.4	NP_003288.2:p.?	NC_000012.11:g.95453781_95453783del	(Likely) benign	1 lab	5514e26159
16:3293156 MEFV A>AC	16	3293156	3293158	A	AC	MEFV	c.2330dup	NM_000243.2	NP_000234.1:p.(Gln778SerfsTer4)	NC_000016.9:g.3293158dup	(Likely) benign	1 lab	55167e8700
16:56912996 SLC12A3 G>GTGCGTGA	16	56912996	56913006	G	GTGCGTGA	SLC12A3	c.1196_1202dup	NM_000339.3	NP_000330.3:p.(Ser402Ter)	NC_000016.9:g.56913000_56913006dup	(Likely) pathogenic	1 lab	5517a133a5
X:48547456 WAS G>A	X	48547456	48547456	G	A	WAS	c.1338+1G>A	NM_000377.2	NP_000368.1:p.?	NC_000023.10:g.48547456G>A	VUS	1 lab	55193c281e
9:123725916 C5 C>A	9	123725916	123725916	C	A	C5	c.4321G>T	NM_001735.2	NP_001726.2:p.(Ala1441Ser)	NC_000009.11:g.123725916C>A	(Likely) benign	1 lab	551944170c
4:86893210 ARHGAP24 G>A	4	86893210	86893210	G	A	ARHGAP24	c.621G>A	NM_001025616.3	NP_001020787.2:p.(Val207=)	NC_000004.11:g.86893210G>A	(Likely) benign	1 lab	5519c51b6c
17:42332803 SLC4A1 C>T	17	42332803	42332803	C	T	SLC4A1	c.1801-139G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42332803C>T	(Likely) benign	1 lab	551f9d1e6b
2:69565564 GFPT1 A>T	2	69565564	69565564	A	T	GFPT1	c.1324+13T>A	NM_001244710.1	NP_001231639.1:p.?	NC_000002.11:g.69565564A>T	(Likely) benign	1 lab	5523d6b82a
17:41053082 G6PC1 G>A	17	41053082	41053082	G	A	G6PC1	c.189G>A	NM_000151.4	NP_000142.2:p.(Trp63Ter)	NC_000017.10:g.41053082G>A	(Likely) pathogenic	1 lab	cf726e85e7
9:140127051 SLC34A3 G>A	9	140127051	140127051	G	A	SLC34A3	c.200G>A	NM_080877.2	NP_543153.1:p.(Arg67His)	NC_000009.11:g.140127051G>A	(Likely) benign	1 lab	5527f88e0e
7:75958921 YWHAG G>A	7	75958921	75958921	G	A	YWHAG	c.717C>T	NM_012479.4	NP_036611.2:p.(Asp239=)	NC_000007.13:g.75958921G>A	(Likely) benign	1 lab	55288a4d8f
6:2890798 SERPINB9 T>G	6	2890798	2890798	T	G	SERPINB9	c.730A>C	NM_004155.6	NP_004146.1:p.(Lys244Gln)	NC_000006.11:g.2890798T>G	VUS	1 lab	553289114b
5:1441531 SLC6A3 C>T	5	1441531	1441531	C	T	SLC6A3	c.361G>A	NM_001044.5	NP_001035.1:p.(Gly121Ser)	NC_000005.9:g.1441531C>T	VUS	1 lab	cf72c06c33
19:42398592 ARHGEF1 C>T	19	42398592	42398592	C	T	ARHGEF1	c.858C>T	NM_199002.2	NP_945353.1:p.(Ala286=)	NC_000019.9:g.42398592C>T	(Likely) benign	1 lab	553932a268
18:12377133 AFG3L2 C>T	18	12377133	12377133	C	T	AFG3L2	c.-52G>A	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12377133C>T	(Likely) benign	1 lab	553adf1835
9:14816829 FREM1 G>C	9	14816829	14816829	G	C	FREM1	c.2587C>G	NM_144966.5	NP_659403.4:p.(Leu863Val)	NC_000009.11:g.14816829G>C	(Likely) benign	1 lab	553b1fcc97
1:12337888 VPS13D G>A	1	12337888	12337888	G	A	VPS13D	c.4243G>A	NM_015378.4	NP_056193.2:p.(Asp1415Asn)	NC_000001.10:g.12337888G>A	(Likely) benign	1 lab	553f2fa21e
20:62311268 RTEL1 G>A	20	62311268	62311268	G	A	RTEL1	c.1104G>A	NM_001283009.2	NP_001269938.1:p.(Ser368=)	NC_000020.10:g.62311268G>A	(Likely) benign	1 lab	55405cda14
12:109537012 UNG GAAGA>G	12	109537012	109537023	GAAGA	G	UNG	c.366_369del	NM_080911.3	NP_550433.1:p.(Arg122SerfsTer21)	NC_000012.11:g.109537020_109537023del	(Likely) pathogenic	1 lab	5545954f36
10:102539253 PAX2 A>G	10	102539253	102539253	A	G	PAX2	c.411-2A>G	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102539253A>G	(Likely) pathogenic	1 lab	5546bc5123
18:29104426 DSG2 A>G	18	29104426	29104426	A	G	DSG2	c.706A>G	NM_001943.3	NP_001934.2:p.(Thr236Ala)	NC_000018.9:g.29104426A>G	(Likely) benign	1 lab	5547a2443c
11:2906120 CDKN1C T>C	11	2906120	2906120	T	C	CDKN1C	c.600A>G	NM_000076.2	NP_000067.1:p.(Pro200=)	NC_000011.9:g.2906120T>C	(Likely) benign	1 lab	554991e510
5:150715113 SLC36A2 G>A	5	150715113	150715113	G	A	SLC36A2	c.526-5C>T	NM_181776.3	NP_861441.2:p.?	NC_000005.9:g.150715113G>A	(Likely) benign	1 lab	55522d7d06
13:52531716 ATP7B G>A	13	52531716	52531716	G	A	ATP7B	c.2383C>T	NM_000053.4	NP_000044.2:p.(Leu795Phe)	NC_000013.10:g.52531716G>A	(Likely) pathogenic	1 lab	555f56612c
6:20402689 E2F3 A>G	6	20402689	20402689	A	G	E2F3	c.226A>G	NM_001949.5	NP_001940.1:p.(Ser76Gly)	NC_000006.11:g.20402689A>G	(Likely) benign	1 lab	556137d837
2:175440124 WIPF1 C>T	2	175440124	175440124	C	T	WIPF1	c.182-16G>A	NM_001077269.1	NP_001070737.1:p.?	NC_000002.11:g.175440124C>T	(Likely) benign	1 lab	5561ee80a4
14:65252732 SPTB C>A	14	65252732	65252732	C	A	SPTB	c.3562-63G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252732C>A	(Likely) benign	1 lab	556409029c
9:14747315 FREM1 G>A	9	14747315	14747315	G	A	FREM1	c.5956C>T	NM_144966.5	NP_659403.4:p.(Leu1986=)	NC_000009.11:g.14747315G>A	(Likely) benign	1 lab	5567a499b2
2:207631446 FASTKD2 G>C	2	207631446	207631446	G	C	FASTKD2	c.29G>C	NM_001136194.1	NP_001129666.1:p.(Ser10Thr)	NC_000002.11:g.207631446G>C	(Likely) benign	1 lab	5568fac7aa
1:215749246 KCTD3 A>C	1	215749246	215749246	A	C	KCTD3	c.186A>C	NM_016121.5	NP_057205.2:p.(Ile62=)	NC_000001.10:g.215749246A>C	(Likely) benign	1 lab	556be72b3b
12:2676973 CACNA1C C>T	12	2676973	2676973	C	T	CACNA1C	c.1895+13C>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2676973C>T	(Likely) benign	1 lab	556c0c49de
9:16437256 BNC2 G>A	9	16437256	16437256	G	A	BNC2	c.936C>T	NM_017637.5	NP_060107.3:p.(Phe312=)	NC_000009.11:g.16437256G>A	(Likely) benign	1 lab	556c2ad524
2:166221770 SCN2A G>A	2	166221770	166221770	G	A	SCN2A	c.3517G>A	NM_021007.3	NP_066287.2:p.(Glu1173Lys)	NC_000002.11:g.166221770G>A	VUS	1 lab	55777a95e0
12:68551724 IFNG C>T	12	68551724	68551724	C	T	IFNG	c.335G>A	NM_000619.3	NP_000610.2:p.(Arg112Gln)	NC_000012.11:g.68551724C>T	(Likely) benign	1 lab	55794b80c7
11:68675700 IGHMBP2 C>T	11	68675700	68675700	C	T	IGHMBP2	c.344C>T	NM_002180.2	NP_002171.2:p.(Thr115Met)	NC_000011.9:g.68675700C>T	(Likely) benign	1 lab	557a1f603c
X:110925428 ALG13 C>T	X	110925428	110925428	C	T	ALG13	c.150C>T	NM_001099922.3	NP_001093392.1:p.(Pro50=)	NC_000023.10:g.110925428C>T	(Likely) benign	1 lab	557aa5f130
19:41863833 B9D2 G>A	19	41863833	41863833	G	A	B9D2	c.183C>T	NM_030578.4	NP_085055.2:p.(Ile61=)	NC_000019.9:g.41863833G>A	(Likely) benign	1 lab	558013ec85
21:44837543 SIK1 C>T	21	44837543	44837543	C	T	SIK1	c.1856G>A	NM_173354.5	NP_775490.2:p.(Arg619Gln)	NC_000021.8:g.44837543C>T	(Likely) benign	1 lab	55840d5f71
8:143994807 CYP11B2 T>C	8	143994807	143994807	T	C	CYP11B2	c.1015A>G	NM_000498.3	NP_000489.3:p.(Ile339Val)	NC_000008.10:g.143994807T>C	(Likely) benign	1 lab	5584e62b87
5:148389828 SH3TC2 C>A	5	148389828	148389828	C	A	SH3TC2	c.3327+5G>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148389828C>A	VUS	1 lab	cfc8e7e9d7
1:109815549 CELSR2 A>AGAG	1	109815549	109815560	A	AGAG	CELSR2	c.8247_8249dup	NM_001408.3	NP_001399.1:p.(Glu2752dup)	NC_000001.10:g.109815558_109815560dup	(Likely) benign	1 lab	cf759ac2ef
7:83029518 SEMA3E G>A	7	83029518	83029518	G	A	SEMA3E	c.1192C>T	NM_012431.3	NP_036563.1:p.(Pro398Ser)	NC_000007.13:g.83029518G>A	VUS	1 lab	cf77495133
19:41916823 BCKDHA C>T	19	41916823	41916823	C	T	BCKDHA	c.289-5C>T	NM_000709.4	NP_000700.1:p.?	NC_000019.9:g.41916823C>T	(Likely) benign	1 lab	558da23241
16:89349366 ANKRD11 C>T	16	89349366	89349366	C	T	ANKRD11	c.3584G>A	NM_001256182.2	NP_001243111.1:p.(Arg1195Lys)	NC_000016.9:g.89349366C>T	(Likely) benign	1 lab	55908f8940
14:23858852 MYH6 C>T	14	23858852	23858852	C	T	MYH6	c.3809G>A	NM_002471.4	NP_002462.2:p.(Arg1270His)	NC_000014.8:g.23858852C>T	VUS	1 lab	cf7bea4adf
7:30951844 AQP1 T>G	7	30951844	30951844	T	G	AQP1	c.320T>G	NM_198098.3	NP_932766.1:p.(Val107Gly)	NC_000007.13:g.30951844T>G	(Likely) benign	1 lab	5596fc7ce6
22:51063819 ARSA C>T	22	51063819	51063819	C	T	ARSA	c.1284G>A	NM_000487.6	NP_000478.3:p.(Pro428=)	NC_000022.10:g.51063819C>T	VUS	1 lab	565a9bd10c
3:148459552 AGTR1 G>T	3	148459552	148459552	G	T	AGTR1	c.835G>T	NM_031850.3	NP_114038.4:p.(Ala279Ser)	NC_000003.11:g.148459552G>T	(Likely) benign	1 lab	5597c65f03
1:228526715 OBSCN G>A	1	228526715	228526715	G	A	OBSCN	c.20117G>A	NM_001271223.2	NP_001258152.2:p.(Arg6706His)	NC_000001.10:g.228526715G>A	(Likely) benign	1 lab	5599fbc8ae
6:51524750 PKHD1 G>A	6	51524750	51524750	G	A	PKHD1	c.10174C>T	NM_138694.4	NP_619639.3:p.(Gln3392Ter)	NC_000006.11:g.51524750G>A	(Likely) pathogenic	1 lab	559a73a5db
7:103294535 RELN T>C	7	103294535	103294535	T	C	RELN	c.1554+5A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103294535T>C	(Likely) benign	1 lab	559c15f81a
9:130586639 ENG G>A	9	130586639	130586639	G	A	ENG	c.1078C>T	NM_000118.3	NP_000109.1:p.(Gln360Ter)	NC_000009.11:g.130586639G>A	(Likely) pathogenic	1 lab	559d578371
4:84188586 COQ2 G>A	4	84188586	84188586	G	A	COQ2	c.1101+153C>T	NM_015697.8	NP_056512.5:p.?	NC_000004.11:g.84188586G>A	(Likely) benign	1 lab	559e37a39c
16:50745233 NOD2 C>T	16	50745233	50745233	C	T	NOD2	c.1411C>T	NM_022162.1	NP_071445.1:p.(Arg471Cys)	NC_000016.9:g.50745233C>T	(Likely) benign	1 lab	559fd6a80a
1:22155370 HSPG2 C>T	1	22155370	22155370	C	T	HSPG2	c.12195G>A	NM_005529.6	NP_005520.4:p.(Pro4065=)	NC_000001.10:g.22155370C>T	(Likely) benign	1 lab	55a23cbfae
14:104026393 BAG5 C>T	14	104026393	104026393	C	T	BAG5	c.1232G>A	NM_001015049.3	NP_001015049.1:p.(Trp411Ter)	NC_000014.8:g.104026393C>T	(Likely) pathogenic	1 lab	55a3ce2a63
1:155263342 PKLR C>T	1	155263342	155263342	C	T	PKLR	c.1156G>A	NM_000298.6	NP_000289.1:p.(Ala386Thr)	NC_000001.10:g.155263342C>T	(Likely) pathogenic	1 lab	55a6cb2b26
X:18613311 CDKL5 CA>C	X	18613311	18613320	CA	C	CDKL5	c.745-148del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18613320del	(Likely) benign	1 lab	55aa40e676
14:64588854 SYNE2 A>G	14	64588854	64588854	A	G	SYNE2	c.13280+3A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64588854A>G	(Likely) benign	1 lab	55ac085580
6:33403509 SYNGAP1 T>A	6	33403509	33403509	T	A	SYNGAP1	c.762+119T>A	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33403509T>A	(Likely) benign	1 lab	58ad237d76
6:112435415 LAMA4 A>G	6	112435415	112435415	A	G	LAMA4	c.5207-17T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112435415A>G	(Likely) benign	1 lab	cf7c8db2d4
19:6713407 C3 G>T	19	6713407	6713407	G	T	C3	c.876+11C>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6713407G>T	(Likely) benign	1 lab	576dcc59d6
2:169781263 ABCB11 C>G	2	169781263	169781263	C	G	ABCB11	c.3669G>C	NM_003742.4	NP_003733.2:p.(Glu1223Asp)	NC_000002.11:g.169781263C>G	(Likely) pathogenic	1 lab	55afefad98
4:79428447 FRAS1 G>A	4	79428447	79428447	G	A	FRAS1	c.9317-128G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79428447G>A	(Likely) benign	1 lab	55b3be1712
5:55212675 IL31RA C>T	5	55212675	55212675	C	T	IL31RA	c.2022C>T	NM_139017.6	NP_620586.3:p.(Cys674=)	NC_000005.9:g.55212675C>T	(Likely) benign	1 lab	55b56de6b7
13:39438383 FREM2 C>A	13	39438383	39438383	C	A	FREM2	c.7652-29C>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39438383C>A	(Likely) benign	1 lab	55b912e518
17:73746805 ITGB4 G>A	17	73746805	73746805	G	A	ITGB4	c.3519G>A	NM_000213.5	NP_000204.3:p.(Leu1173=)	NC_000017.10:g.73746805G>A	(Likely) benign	1 lab	55ba0572ba
9:136301999 ADAMTS13 C>T	9	136301999	136301999	C	T	ADAMTS13	c.1359C>T	NM_139025.4	NP_620594.1:p.(Thr453=)	NC_000009.11:g.136301999C>T	(Likely) benign	1 lab	55bd42073f
2:58392918 FANCL GTCTTC>G	2	58392918	58392925	GTCTTC	G	FANCL	c.627_631del	NM_018062.4	NP_060532.2:p.(Glu209AspfsTer5)	NC_000002.11:g.58392921_58392925del	(Likely) pathogenic	1 lab	cf7e6df23a
2:166236985 SCN2A G>A	2	166236985	166236985	G	A	SCN2A	c.4309-117G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166236985G>A	(Likely) benign	1 lab	55c3148a15
12:110012630 MVK G>C	12	110012630	110012630	G	C	MVK	c.3G>C	NM_000431.2	NP_000422.1:p.(Met1?)	NC_000012.11:g.110012630G>C	(Likely) pathogenic	1 lab	55c3ba8bc7
9:126118629 CRB2 G>A	9	126118629	126118629	G	A	CRB2	c.90G>A	NM_173689.7	NP_775960.4:p.(Leu30=)	NC_000009.11:g.126118629G>A	(Likely) benign	1 lab	55c7cb82f5
5:127599367 FBN2 A>T	5	127599367	127599367	A	T	FBN2	c.7961-19T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127599367A>T	(Likely) benign	1 lab	55ccb777c7
19:35524755 SCN1B G>T	19	35524755	35524755	G	T	SCN1B	c.560G>T	NM_199037.5	NP_950238.1:p.(Arg187Leu)	NC_000019.9:g.35524755G>T	(Likely) benign	1 lab	55cd320634
5:35876439 IL7R A>G	5	35876439	35876439	A	G	IL7R				NC_000005.9:g.35876439A>G	(Likely) benign	1 lab	55cf1ba87e
4:86921609 ARHGAP24 A>AC	4	86921609	86921617	A	AC	ARHGAP24	c.2004-15dup	NM_001025616.3	NP_001020787.2:p.?	NC_000004.11:g.86921617dup	(Likely) benign	1 lab	55cf59e0c3
16:50745103 NOD2 G>C	16	50745103	50745103	G	C	NOD2	c.1281G>C	NM_022162.1	NP_071445.1:p.(Pro427=)	NC_000016.9:g.50745103G>C	(Likely) benign	1 lab	55d2afb613
6:31933730 SKIC2 C>T	6	31933730	31933730	C	T	SKIC2	c.2142C>T	NM_006929.5	NP_008860.4:p.(Thr714=)	NC_000006.11:g.31933730C>T	(Likely) benign	1 lab	55d569ac06
1:201869519 LMOD1 T>G	1	201869519	201869519	T	G	LMOD1	c.622A>C	NM_012134.3	NP_036266.2:p.(Arg208=)	NC_000001.10:g.201869519T>G	(Likely) benign	1 lab	55d6948b9d
1:247597508 NLRP3 G>A	1	247597508	247597508	G	A	NLRP3	c.2425G>A	NM_001243133.2	NP_001230062.1:p.(Gly809Ser)	NC_000001.10:g.247597508G>A	VUS	1 lab	55da9e707f
10:43615013 RET C>T	10	43615013	43615013	C	T	RET	c.2427C>T	NM_020975.4	NP_066124.1:p.(Tyr809=)	NC_000010.10:g.43615013C>T	(Likely) benign	1 lab	55dd4d2349
13:37401827 RFXAP A>G	13	37401827	37401827	A	G	RFXAP	c.756A>G	NM_000538.3	NP_000529.1:p.(Gln252=)	NC_000013.10:g.37401827A>G	(Likely) benign	1 lab	55e091385e
10:61830284 ANK3 A>G	10	61830284	61830284	A	G	ANK3	c.10355T>C	NM_020987.5	NP_066267.2:p.(Leu3452Pro)	NC_000010.10:g.61830284A>G	VUS	1 lab	55e3725b38
X:99605527 PCDH19 G>C	X	99605527	99605527	G	C	PCDH19	c.2675+117C>G	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99605527G>C	(Likely) benign	1 lab	55e540e982
9:5044432 JAK2 G>A	9	5044432	5044432	G	A	JAK2	c.380G>A	NM_004972.3	NP_004963.1:p.(Gly127Asp)	NC_000009.11:g.5044432G>A	(Likely) benign	1 lab	55e729f6a1
12:6442655 TNFRSF1A C>T	12	6442655	6442655	C	T	TNFRSF1A	c.350G>A	NM_001065.3	NP_001056.1:p.(Cys117Tyr)	NC_000012.11:g.6442655C>T	(Likely) pathogenic	1 lab	55f0b64a86
12:110221631 TRPV4 G>C	12	110221631	110221631	G	C	TRPV4	c.2459-48C>G	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110221631G>C	(Likely) benign	1 lab	55f3916db6
8:37623101 PLPBP A>G	8	37623101	37623101	A	G	PLPBP	c.157A>G	NM_007198.4	NP_009129.1:p.(Met53Val)	NC_000008.10:g.37623101A>G	(Likely) benign	1 lab	55f3b64ec7
19:55450696 NLRP7 G>A	19	55450696	55450696	G	A	NLRP7	c.1491C>T	NM_001127255.1	NP_001120727.1:p.(Ile497=)	NC_000019.9:g.55450696G>A	(Likely) benign	1 lab	55f40653d5
2:200790450 C2orf69 T>C	2	200790450	200790450	T	C	C2orf69	c.999T>C	NM_153689.6	NP_710156.3:p.(Pro333=)	NC_000002.11:g.200790450T>C	(Likely) benign	1 lab	55f51bec39
1:113659070 LRIG2 G>A	1	113659070	113659070	G	A	LRIG2	c.2680+12G>A	NM_014813.2	NP_055628.1:p.?	NC_000001.10:g.113659070G>A	(Likely) benign	1 lab	55f8d70d0a
11:613337 IRF7 C>T	11	613337	613337	C	T	IRF7	c.1145G>A	NM_004031.4	NP_004022.2:p.(Arg382Gln)	NC_000011.9:g.613337C>T	(Likely) benign	1 lab	55f9a7f33c
1:62941725 DOCK7 G>A	1	62941725	62941725	G	A	DOCK7	c.5691+13C>T	NM_001271999.1	NP_001258928.1:p.?	NC_000001.10:g.62941725G>A	(Likely) benign	1 lab	55ff3f9277
10:89693009 PTEN G>C	10	89693009	89693009	G	C	PTEN	c.-259+1G>C	NM_001304718.2	NP_001291647.1:p.?	NC_000010.10:g.89693009G>C	(Likely) pathogenic	1 lab	5601876f7a
3:75986741 ROBO2 G>T	3	75986741	75986741	G	T	ROBO2	c.97G>T	NM_001128929.3	NP_001122401.1:p.(Gly33Ter)	NC_000003.11:g.75986741G>T	(Likely) benign	1 lab	560913f74b
3:30691872 TGFBR2 A>G	3	30691872	30691872	A	G	TGFBR2	c.449A>G	NM_001024847.2	NP_001020018.1:p.(Glu150Gly)	NC_000003.11:g.30691872A>G	(Likely) benign	1 lab	5609208574
19:40903527 PRX C>T	19	40903527	40903527	C	T	PRX	c.732G>A	NM_181882.2	NP_870998.2:p.(Ala244=)	NC_000019.9:g.40903527C>T	(Likely) benign	1 lab	560a1ebc7d
X:107930896 COL4A5 A>G	X	107930896	107930896	A	G	COL4A5	c.4482A>G	NM_000495.5	NP_000486.1:p.(Gly1494=)	NC_000023.10:g.107930896A>G	(Likely) benign	1 lab	560adcae85
X:107865017 COL4A5 T>C	X	107865017	107865017	T	C	COL4A5	c.2678-16T>C	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107865017T>C	(Likely) benign	1 lab	560b4c1629
1:43394488 SLC2A1 G>A	1	43394488	43394488	G	A	SLC2A1	c.1074+115C>T	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43394488G>A	(Likely) benign	1 lab	560c6ebeda
12:110023911 MVK C>A	12	110023911	110023911	C	A	MVK	c.612C>A	NM_000431.2	NP_000422.1:p.(Asp204Glu)	NC_000012.11:g.110023911C>A	VUS	1 lab	560df598eb
6:137525608 IFNGR1 T>C	6	137525608	137525608	T	C	IFNGR1	c.407A>G	NM_000416.2	NP_000407.1:p.(Lys136Arg)	NC_000006.11:g.137525608T>C	(Likely) benign	1 lab	565ad8926d
12:7053038 RNU7-1 C>T	12	7053038	7053038	C	T	RNU7-1	n.60C>T	NR_023317.1		NC_000012.11:g.7053038C>T	(Likely) benign	1 lab	cf83f11bcc
16:5125455 ALG1 G>A	16	5125455	5125455	G	A	ALG1	c.457G>A	NM_019109.4	NP_061982.3:p.(Val153Ile)	NC_000016.9:g.5125455G>A	(Likely) benign	1 lab	56186a4056
16:4385414 GLIS2 C>T	16	4385414	4385414	C	T	GLIS2	c.775+20C>T	NM_032575.2	NP_115964.2:p.?	NC_000016.9:g.4385414C>T	(Likely) benign	1 lab	561890e414
12:6443011 TNFRSF1A A>G	12	6443011	6443011	A	G	TNFRSF1A	c.214T>C	NM_001065.3	NP_001056.1:p.(Cys72Arg)	NC_000012.11:g.6443011A>G	(Likely) pathogenic	1 lab	561958e5bf
3:183888370 DVL3 C>A	3	183888370	183888370	C	A	DVL3	c.1978C>A	NM_004423.4	NP_004414.3:p.(Pro660Thr)	NC_000003.11:g.183888370C>A	VUS	1 lab	cf8a804fc3
2:152492771 NEB C>T	2	152492771	152492771	C	T	NEB	c.9072G>A	NM_001271208.1	NP_001258137.1:p.(Ala3024=)	NC_000002.11:g.152492771C>T	(Likely) benign	1 lab	561f5fc201
3:30729867 TGFBR2 T>C	3	30729867	30729867	T	C	TGFBR2	c.1472-9T>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30729867T>C	(Likely) benign	1 lab	56229923d2
15:85191137 WDR73 C>T	15	85191137	85191137	C	T	WDR73				NC_000015.9:g.85191137C>T	(Likely) benign	1 lab	59fa195fd3
17:41256208 BRCA1 G>T	17	41256208	41256208	G	T	BRCA1	c.372C>A	NM_007294.3	NP_009225.1:p.(Ile124=)	NC_000017.10:g.41256208G>T	(Likely) benign	1 lab	5623afe9dd
14:105169458 INF2 C>T	14	105169458	105169458	C	T	INF2	c.408C>T	NM_022489.3	NP_071934.3:p.(Asn136=)	NC_000014.8:g.105169458C>T	(Likely) benign	1 lab	562a667cc7
12:49444209 KMT2D C>T	12	49444209	49444209	C	T	KMT2D	c.3162G>A	NM_003482.3	NP_003473.3:p.(Pro1054=)	NC_000012.11:g.49444209C>T	(Likely) benign	1 lab	565af67c38
15:27018026 GABRB3 C>G	15	27018026	27018026	C	G	GABRB3	c.80+4G>C	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.27018026C>G	(Likely) benign	1 lab	56354e368f
1:153233488 LORICRIN C>CGGCGGT	1	153233488	153233505	C	CGGCGGT	LORICRIN	c.75_80dup	NM_000427.3	NP_000418.2:p.(Gly27_Gly28dup)	NC_000001.10:g.153233500_153233505dup	(Likely) benign	1 lab	563d348f9a
2:228153946 COL4A3 G>A	2	228153946	228153946	G	A	COL4A3	c.2962G>A	NM_000091.4	NP_000082.2:p.(Gly988Arg)	NC_000002.11:g.228153946G>A	(Likely) pathogenic	1 lab	563e4be592
2:220283537 DES G>C	2	220283537	220283537	G	C	DES	c.353G>C	NM_001927.3	NP_001918.3:p.(Arg118Pro)	NC_000002.11:g.220283537G>C	(Likely) pathogenic	1 lab	563eceb37f
22:51065046 ARSA G>A	22	51065046	51065046	G	A	ARSA	c.827C>T	NM_000487.6	NP_000478.3:p.(Thr276Met)	NC_000022.10:g.51065046G>A	(Likely) pathogenic	1 lab	5644ef3ef8
12:52093426 SCN8A T>C	12	52093426	52093426	T	C	SCN8A	c.779T>C	NM_014191.4	NP_055006.1:p.(Phe260Ser)	NC_000012.11:g.52093426T>C	(Likely) pathogenic	1 lab	5645d4f3dd
5:89981461 ADGRV1 T>TA	5	89981461	89981464	T	TA	ADGRV1	c.6275-133dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89981464dup	(Likely) benign	1 lab	564dea396d
1:223957545 CAPN2 G>A	1	223957545	223957545	G	A	CAPN2	c.1758G>A	NM_001748.5	NP_001739.3:p.(Ser586=)	NC_000001.10:g.223957545G>A	(Likely) benign	1 lab	56591538c0
9:138642007 KCNT1 C>A	9	138642007	138642007	C	A	KCNT1	c.318C>A	NM_020822.2	NP_065873.2:p.(Ile106=)	NC_000009.11:g.138642007C>A	(Likely) benign	1 lab	5659b905c8
15:57896482 GCOM1 C>A	15	57896482	57896482	C	A	GCOM1	c.91C>A	NM_001285900.3	NP_001272829.1:p.(Leu31Ile)	NC_000015.9:g.57896482C>A	VUS	1 lab	566167bb47
6:129712680 LAMA2 C>T	6	129712680	129712680	C	T	LAMA2	c.5116C>T	NM_000426.3	NP_000417.2:p.(Arg1706Ter)	NC_000006.11:g.129712680C>T	(Likely) pathogenic	1 lab	5661fe7d26
6:145956418 EPM2A G>A	6	145956418	145956418	G	A	EPM2A	c.681C>T	NM_001018041.2	NP_001018051.1:p.(Ala227=)	NC_000006.11:g.145956418G>A	(Likely) benign	1 lab	566379c03f
11:4080520 STIM1 C>T	11	4080520	4080520	C	T	STIM1	c.507C>T	NM_001277961.1	NP_001264890.1:p.(Val169=)	NC_000011.9:g.4080520C>T	(Likely) benign	1 lab	5696f31c96
14:23884402 MYH7 T>C	14	23884402	23884402	T	C	MYH7	c.5361A>G	NM_000257.2	NP_000248.2:p.(Glu1787=)	NC_000014.8:g.23884402T>C	(Likely) benign	1 lab	566a27fd28
8:61765076 CHD7 G>C	8	61765076	61765076	G	C	CHD7	c.5914G>C	NM_017780.4	NP_060250.2:p.(Ala1972Pro)	NC_000008.10:g.61765076G>C	(Likely) pathogenic	1 lab	cf8a85bbd1
1:6279309 RNF207 A>G	1	6279309	6279309	A	G	RNF207	c.1747A>G	NM_207396.3	NP_997279.2:p.(Ser583Gly)	NC_000001.10:g.6279309A>G	VUS	1 lab	566fad486f
13:52511731 ATP7B C>A	13	52511731	52511731	C	A	ATP7B	c.3784G>T	NM_000053.4	NP_000044.2:p.(Val1262Phe)	NC_000013.10:g.52511731C>A	(Likely) pathogenic	1 lab	566fee4a09
22:40815245 MRTFA G>A	22	40815245	40815245	G	A	MRTFA	c.1497C>T	NM_020831.6	NP_065882.2:p.(Ile499=)	NC_000022.10:g.40815245G>A	(Likely) benign	1 lab	5672cfb090
1:3328444 PRDM16 C>T	1	3328444	3328444	C	T	PRDM16	c.1683C>T	NM_022114.4	NP_071397.3:p.(Ala561=)	NC_000001.10:g.3328444C>T	(Likely) benign	1 lab	567ec9ceff
9:6536172 GLDC C>T	9	6536172	6536172	C	T	GLDC	c.2730G>A	NM_000170.2	NP_000161.2:p.(Ser910=)	NC_000009.11:g.6536172C>T	(Likely) benign	1 lab	5680d615ed
12:133237687 POLE G>A	12	133237687	133237687	G	A	POLE	c.2928C>T	NM_006231.3	NP_006222.2:p.(Arg976=)	NC_000012.11:g.133237687G>A	(Likely) benign	1 lab	56823f8069
10:54528195 MBL2 T>G	10	54528195	54528195	T	G	MBL2	c.449A>C	NM_000242.2	NP_000233.1:p.(Lys150Thr)	NC_000010.10:g.54528195T>G	(Likely) benign	1 lab	5684be8901
13:52520514 ATP7B A>C	13	52520514	52520514	A	C	ATP7B	c.2966T>G	NM_000053.4	NP_000044.2:p.(Leu989Arg)	NC_000013.10:g.52520514A>C	(Likely) pathogenic	1 lab	568656bd5d
1:146767092 CHD1L T>G	1	146767092	146767092	T	G	CHD1L	c.2616-20T>G	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146767092T>G	(Likely) benign	1 lab	56867f5e50
2:50848555 NRXN1 T>C	2	50848555	50848555	T	C	NRXN1	c.1135-168A>G	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50848555T>C	(Likely) benign	1 lab	568a3169cd
9:14842557 FREM1 T>C	9	14842557	14842557	T	C	FREM1	c.1495A>G	NM_144966.5	NP_659403.4:p.(Ile499Val)	NC_000009.11:g.14842557T>C	(Likely) benign	1 lab	568bcbd95e
17:41267756 BRCA1 G>A	17	41267756	41267756	G	A	BRCA1	c.121C>T	NM_007294.3	NP_009225.1:p.(His41Tyr)	NC_000017.10:g.41267756G>A	(Likely) pathogenic	1 lab	5690f8a19c
8:41584785 ANK1 G>A	8	41584785	41584785	G	A	ANK1	c.409C>T	NM_000037.4	NP_000028.3:p.(Gln137Ter)	NC_000008.10:g.41584785G>A	(Likely) pathogenic	1 lab	5692967a81
15:67473805 SMAD3 C>T	15	67473805	67473805	C	T	SMAD3	c.871+14C>T	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67473805C>T	(Likely) benign	1 lab	5692c546d8
19:7705682 STXBP2 C>T	19	7705682	7705682	C	T	STXBP2	c.345C>T	NM_001272034.2	NP_001258963.1:p.(Ile115=)	NC_000019.9:g.7705682C>T	(Likely) benign	1 lab	5695a1d2f2
10:121429425 BAG3 A>AG	10	121429425	121429427	A	AG	BAG3	c.245dup	NM_004281.3	NP_004272.2:p.(His83ProfsTer19)	NC_000010.10:g.121429427dup	(Likely) pathogenic	1 lab	5696ce2db2
5:77330273 AP3B1 G>A	5	77330273	77330273	G	A	AP3B1	c.2810-4C>T	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77330273G>A	(Likely) benign	1 lab	5698c5340e
17:5436320 NLRP1 A>G	17	5436320	5436320	A	G	NLRP1	c.3134-16T>C	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5436320A>G	(Likely) benign	1 lab	569be1f789
1:43394618 SLC2A1 G>A	1	43394618	43394618	G	A	SLC2A1	c.1059C>T	NM_006516.3	NP_006507.2:p.(Ile353=)	NC_000001.10:g.43394618G>A	(Likely) benign	1 lab	56a2c337ff
13:52542563 ATP7B G>A	13	52542563	52542563	G	A	ATP7B	c.1707+17C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542563G>A	VUS	1 lab	574e26ba6c
11:116708093 APOA1 G>A	11	116708093	116708093	G	A	APOA1	c.11C>T	NM_000039.1	NP_000030.1:p.(Ala4Val)	NC_000011.9:g.116708093G>A	(Likely) benign	1 lab	56ad270450
2:216295532 FN1 G>T	2	216295532	216295532	G	T	FN1	c.591C>A	NM_212482.2	NP_997647.1:p.(Val197=)	NC_000002.11:g.216295532G>T	(Likely) benign	1 lab	56ae13aa15
16:4848683 ROGDI G>A	16	4848683	4848683	G	A	ROGDI	c.433-15C>T	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4848683G>A	(Likely) benign	1 lab	56aeea4ec1
8:48695103 PRKDC G>A	8	48695103	48695103	G	A	PRKDC	c.11232C>T	NM_006904.6	NP_008835.5:p.(Asp3744=)	NC_000008.10:g.48695103G>A	(Likely) benign	1 lab	56b0ce7798
11:101375326 TRPC6 T>C	11	101375326	101375326	T	C	TRPC6	c.374A>G	NM_004621.6	NP_004612.2:p.(Asn125Ser)	NC_000011.9:g.101375326T>C	(Likely) benign	1 lab	56b6de1211
7:150696111 NOS3 T>G	7	150696111	150696111	T	G	NOS3	c.894T>G	NM_000603.5	NP_000594.2:p.(Asp298Glu)	NC_000007.13:g.150696111T>G	(Likely) benign	1 lab	56bb08cce5
17:45008460 GOSR2 T>C	17	45008460	45008460	T	C	GOSR2	c.95-5T>C	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45008460T>C	(Likely) benign	1 lab	56be8266c5
18:48466024 ME2 ATGT>A	18	48466024	48466031	ATGT	A	ME2	c.1488+19_1488+21del	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48466029_48466031del	(Likely) benign	1 lab	56bf6329d6
17:36099431 HNF1B G>A	17	36099431	36099431	G	A	HNF1B	c.544C>T	NM_000458.4	NP_000449.1:p.(Gln182Ter)	NC_000017.10:g.36099431G>A	(Likely) pathogenic	1 lab	56c061708b
21:34924148 SON A>G	21	34924148	34924148	A	G	SON	c.2611A>G	NM_138927.2	NP_620305.2:p.(Met871Val)	NC_000021.8:g.34924148A>G	(Likely) benign	1 lab	56c26396ba
4:187518127 FAT1 A>G	4	187518127	187518127	A	G	FAT1	c.12567T>C	NM_005245.4	NP_005236.2:p.(Val4189=)	NC_000004.11:g.187518127A>G	(Likely) benign	1 lab	56c762d8c9
X:48759277 PQBP1 G>A	X	48759277	48759277	G	A	PQBP1	c.250G>A	NM_005710.2	NP_005701.1:p.(Val84Met)	NC_000023.10:g.48759277G>A	(Likely) benign	1 lab	56c76d49bc
5:112111325 APC G>C	5	112111325	112111325	G	C	APC				NC_000005.9:g.112111325G>C	(Likely) pathogenic	1 lab	56ca287aad
5:137206683 MYOT G>A	5	137206683	137206683	G	A	MYOT	c.343G>A	NM_006790.2	NP_006781.1:p.(Ala115Thr)	NC_000005.9:g.137206683G>A	(Likely) benign	1 lab	56cbdecdd2
11:67764260 UNC93B1 G>A	11	67764260	67764260	G	A	UNC93B1	c.907-5C>T	NM_030930.2	NP_112192.2:p.?	NC_000011.9:g.67764260G>A	(Likely) benign	1 lab	56d06e88b8
14:103363583 TRAF3 G>T	14	103363583	103363583	G	T	TRAF3	c.820-15G>T	NM_145725.2	NP_663777.1:p.?	NC_000014.8:g.103363583G>T	(Likely) benign	1 lab	56d12c0b56
20:62039749 KCNQ2 C>T	20	62039749	62039749	C	T	KCNQ2	c.1887+17G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62039749C>T	(Likely) benign	1 lab	56d13c803b
17:76113654 TMC6 A>G	17	76113654	76113654	A	G	TMC6	c.2093T>C	NM_007267.6	NP_009198.4:p.(Val698Ala)	NC_000017.10:g.76113654A>G	(Likely) benign	1 lab	56d15da842
6:83901054 PGM3 A>AT	6	83901054	83901058	A	AT	PGM3	c.-55-13dup	NM_001199917.2	NP_001186846.1:p.?	NC_000006.11:g.83901058dup	(Likely) benign	1 lab	56d160aece
3:49167696 LAMB2 G>A	3	49167696	49167696	G	A	LAMB2	c.1193C>T	NM_002292.4	NP_002283.3:p.(Thr398Ile)	NC_000003.11:g.49167696G>A	(Likely) benign	1 lab	56d8016ca4
7:2582936 BRAT1 G>A	7	2582936	2582936	G	A	BRAT1	c.825C>T	NM_001350626.2	NP_001337555.1:p.(Ser275=)	NC_000007.13:g.2582936G>A	(Likely) benign	1 lab	56dedc988c
3:132435600 NPHP3 C>T	3	132435600	132435600	C	T	NPHP3	c.823+1G>A	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132435600C>T	VUS	1 lab	5709e2e301
8:145139049 GPAA1 C>T	8	145139049	145139049	C	T	GPAA1	c.629C>T	NM_003801.4	NP_003792.1:p.(Ser210Phe)	NC_000008.10:g.145139049C>T	(Likely) benign	1 lab	56ebeb76f4
12:75601389 KCNC2 G>A	12	75601389	75601389	G	A	KCNC2	c.375C>T	NM_001260497.2	NP_001247426.1:p.(Cys125=)	NC_000012.11:g.75601389G>A	(Likely) benign	1 lab	56f4be843d
19:13345966 CACNA1A C>T	19	13345966	13345966	C	T	CACNA1A	c.5151+57G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13345966C>T	(Likely) benign	1 lab	56ff3b1460
4:4861974 MSX1 C>T	4	4861974	4861974	C	T	MSX1	c.348C>T	NM_002448.3	NP_002439.2:p.(Gly116=)	NC_000004.11:g.4861974C>T	(Likely) benign	1 lab	5700cff2a8
6:56473733 DST T>G	6	56473733	56473733	T	G	DST	c.5693A>C	NM_001374736.1	NP_001361665.1:p.(Gln1898Pro)	NC_000006.11:g.56473733T>G	(Likely) benign	1 lab	5700fcadf4
5:156021923 SGCD A>G	5	156021923	156021923	A	G	SGCD	c.383-19A>G	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.156021923A>G	(Likely) benign	1 lab	5701e45b72
2:166152651 SCN2A G>A	2	166152651	166152651	G	A	SCN2A	c.267+51G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166152651G>A	(Likely) benign	1 lab	5706afc18f
2:98349454 ZAP70 C>T	2	98349454	98349454	C	T	ZAP70	c.672C>T	NM_001079.3	NP_001070.2:p.(Pro224=)	NC_000002.11:g.98349454C>T	(Likely) benign	1 lab	5708464366
10:97200877 SORBS1 A>T	10	97200877	97200877	A	T	SORBS1				NC_000010.10:g.97200877A>T	(Likely) benign	1 lab	5ab88cb844
4:151412053 LRBA T>C	4	151412053	151412053	T	C	LRBA	c.6448+17A>G	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151412053T>C	(Likely) benign	1 lab	571a87a8f6
12:6153555 VWF G>A	12	6153555	6153555	G	A	VWF	c.2344C>T	NM_000552.4	NP_000543.2:p.(Arg782Trp)	NC_000012.11:g.6153555G>A	(Likely) pathogenic	1 lab	571ddc99c4
7:2968328 CARD11 G>A	7	2968328	2968328	G	A	CARD11	c.1658C>T	NM_032415.6	NP_115791.3:p.(Pro553Leu)	NC_000007.13:g.2968328G>A	(Likely) benign	1 lab	571f158466
2:108609516 SLC5A7 C>T	2	108609516	108609516	C	T	SLC5A7	c.381C>T	NM_021815.5	NP_068587.1:p.(Gly127=)	NC_000002.11:g.108609516C>T	(Likely) benign	1 lab	571f80eeb2
19:50365689 PNKP G>A	19	50365689	50365689	G	A	PNKP	c.968C>T	NM_007254.4	NP_009185.2:p.(Thr323Met)	NC_000019.9:g.50365689G>A	(Likely) pathogenic	1 lab	5725be0d91
2:44547566 SLC3A1 G>A	2	44547566	44547566	G	A	SLC3A1	c.1846G>A	NM_000341.4	NP_000332.2:p.(Ala616Thr)	NC_000002.11:g.44547566G>A	(Likely) benign	1 lab	57263f95af
19:13324922 CACNA1A C>G	19	13324922	13324922	C	G	CACNA1A	c.5958+125G>C	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13324922C>G	(Likely) benign	1 lab	57279917f0
19:50166585 IRF3 C>A	19	50166585	50166585	C	A	IRF3	c.337+15G>T	NM_001571.6	NP_001562.1:p.?	NC_000019.9:g.50166585C>A	(Likely) benign	1 lab	572939308c
18:13884753 MC2R C>T	18	13884753	13884753	C	T	MC2R	c.765G>A	NM_000529.2	NP_000520.1:p.(Met255Ile)	NC_000018.9:g.13884753C>T	(Likely) benign	1 lab	572b4013cc
13:39435562 FREM2 T>C	13	39435562	39435562	T	C	FREM2	c.7520-6T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435562T>C	(Likely) benign	1 lab	572b58c71d
16:31471139 ARMC5 G>T	16	31471139	31471139	G	T	ARMC5	c.294G>T	NM_001105247.2	NP_001098717.1:p.(Ser98=)	NC_000016.9:g.31471139G>T	(Likely) benign	1 lab	573069a6d8
20:44047974 PIGT G>A	20	44047974	44047974	G	A	PIGT	c.533G>A	NM_015937.6	NP_057021.2:p.(Arg178Gln)	NC_000020.10:g.44047974G>A	(Likely) benign	1 lab	5731347a8c
20:400353 RBCK1 A>T	20	400353	400353	A	T	RBCK1	c.734A>T	NM_031229.4	NP_112506.2:p.(Glu245Val)	NC_000020.10:g.400353A>T	(Likely) benign	1 lab	5731b90dde
7:47886483 PKD1L1 T>C	7	47886483	47886483	T	C	PKD1L1	c.5147A>G	NM_138295.5	NP_612152.1:p.(Asn1716Ser)	NC_000007.13:g.47886483T>C	VUS	1 lab	57386d405d
5:37212595 CPLANE1 TCC>T	5	37212595	37212597	TCC	T	CPLANE1	c.2920+1064_2920+1065del	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37212596_37212597del	(Likely) benign	1 lab	57398f35cd
19:14875233 ADGRE2 C>T	19	14875233	14875233	C	T	ADGRE2	c.1084+12G>A	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14875233C>T	(Likely) benign	1 lab	573c022034
1:158639601 SPTA1 A>G	1	158639601	158639601	A	G	SPTA1	c.1600-25T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158639601A>G	(Likely) benign	1 lab	5746298d2e
15:73615237 HCN4 G>T	15	73615237	73615237	G	T	HCN4	c.3197C>A	NM_005477.3	NP_005468.1:p.(Pro1066His)	NC_000015.9:g.73615237G>T	VUS	1 lab	cf8bb6a40c
3:10188319 VHL A>C	3	10188319	10188319	A	C	VHL	c.462A>C	NM_000551.3	NP_000542.1:p.(Pro154=)	NC_000003.11:g.10188319A>C	(Likely) pathogenic	1 lab	5747a8ae2a
6:111887758 TRAF3IP2 G>A	6	111887758	111887758	G	A	TRAF3IP2	c.1365C>T	NM_147686.4	NP_679211.2:p.(Thr455=)	NC_000006.11:g.111887758G>A	(Likely) benign	1 lab	57491b449c
13:32930936 BRCA2 G>A	13	32930936	32930936	G	A	BRCA2	c.7617+190G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930936G>A	(Likely) benign	1 lab	576c12dd2f
15:89868438 POLG AGAGT>A	15	89868438	89868453	AGAGT	A	POLG	c.1949+239_1949+242del	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89868450_89868453del	(Likely) benign	1 lab	574bdafb12
14:67432206 GPHN A>G	14	67432206	67432206	A	G	GPHN	c.963+164A>G	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67432206A>G	(Likely) benign	1 lab	574be1cf08
10:16990588 CUBN C>T	10	16990588	16990588	C	T	CUBN	c.5098G>A	NM_001081.3	NP_001072.2:p.(Asp1700Asn)	NC_000010.10:g.16990588C>T	(Likely) benign	1 lab	57501389dc
21:34022576 SYNJ1 T>C	21	34022576	34022576	T	C	SYNJ1	c.3072A>G	NM_203446.2	NP_982271.2:p.(Lys1024=)	NC_000021.8:g.34022576T>C	(Likely) benign	1 lab	57571d1160
1:197069602 ASPM G>A	1	197069602	197069602	G	A	ASPM	c.8779C>T	NM_018136.5	NP_060606.3:p.(Arg2927Trp)	NC_000001.10:g.197069602G>A	VUS	1 lab	cf8d2dc959
8:48852267 PRKDC C>A	8	48852267	48852267	C	A	PRKDC	c.967-10G>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48852267C>A	(Likely) benign	1 lab	575c9a9c19
3:122002662 CASR G>A	3	122002662	122002662	G	A	CASR	c.1861G>A	NM_000388.4	NP_000379.3:p.(Val621Met)	NC_000003.11:g.122002662G>A	VUS	1 lab	cf8d60940e
15:59510219 MYO1E C>T	15	59510219	59510219	C	T	MYO1E	c.978G>A	NM_004998.3	NP_004989.2:p.(Arg326=)	NC_000015.9:g.59510219C>T	(Likely) benign	1 lab	57647f4714
2:179424062 TTN T>C	2	179424062	179424062	T	C	TTN	c.59977A>G	NM_133432.3	NP_597676.3:p.(Thr19993Ala)	NC_000002.11:g.179424062T>C	VUS	1 lab	5765e1bd74
2:216285445 FN1 G>A	2	216285445	216285445	G	A	FN1	c.1626C>T	NM_212482.2	NP_997647.1:p.(Asn542=)	NC_000002.11:g.216285445G>A	(Likely) benign	1 lab	576b91d527
11:836539 CD151 TG>T	11	836539	836549	TG	T	CD151	c.276+107del	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.836549del	(Likely) benign	1 lab	57ba43b59d
6:32808743 PSMB8 T>C	6	32808743	32808743	T	C	PSMB8	c.824A>G	NM_148919.4	NP_683720.2:p.(Asn275Ser)	NC_000006.11:g.32808743T>C	(Likely) benign	1 lab	576f73b7f2
1:196748277 CFHR3 G>GT	1	196748277	196748283	G	GT	CFHR3	c.59-9dup	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196748283dup	(Likely) benign	1 lab	57722ec7aa
3:47041774 NBEAL2 G>A	3	47041774	47041774	G	A	NBEAL2	c.4185G>A	NM_015175.2	NP_055990.1:p.(Pro1395=)	NC_000003.11:g.47041774G>A	(Likely) benign	1 lab	577313d89c
15:93488941 CHD2 T>C	15	93488941	93488941	T	C	CHD2	c.1154-110T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93488941T>C	(Likely) benign	1 lab	5777484817
13:29236637 POMP C>T	13	29236637	29236637	C	T	POMP	c.94C>T	NM_015932.6	NP_057016.1:p.(Arg32Trp)	NC_000013.10:g.29236637C>T	VUS	1 lab	577bbad4cf
17:73836146 UNC13D G>A	17	73836146	73836146	G	A	UNC13D	c.904C>T	NM_199242.2	NP_954712.1:p.(Leu302Phe)	NC_000017.10:g.73836146G>A	(Likely) benign	1 lab	578366ed05
16:3299631 MEFV G>A	16	3299631	3299631	G	A	MEFV	c.1060C>T	NM_000243.2	NP_000234.1:p.(Arg354Trp)	NC_000016.9:g.3299631G>A	(Likely) benign	1 lab	5784c91ec3
19:45451102 APOC2 G>A	19	45451102	45451102	G	A	APOC2	c.-13-621G>A	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451102G>A	(Likely) benign	1 lab	5786c6584f
7:92764864 SAMD9L C>T	7	92764864	92764864	C	T	SAMD9L	c.421G>A	NM_152703.5	NP_689916.2:p.(Val141Met)	NC_000007.13:g.92764864C>T	(Likely) benign	1 lab	578a9e968c
1:228505276 OBSCN G>A	1	228505276	228505276	G	A	OBSCN	c.16544G>A	NM_001271223.2	NP_001258152.2:p.(Arg5515His)	NC_000001.10:g.228505276G>A	(Likely) benign	1 lab	578c2d2973
15:42679977 CAPN3 C>T	15	42679977	42679977	C	T	CAPN3	c.525C>T	NM_000070.3	NP_000061.1:p.(Asp175=)	NC_000015.9:g.42679977C>T	(Likely) benign	1 lab	578c3f91b2
X:21985436 SMS T>G	X	21985436	21985436	T	G	SMS	c.170+2T>G	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21985436T>G	(Likely) benign	1 lab	578e195850
17:73826167 UNC13D G>A	17	73826167	73826167	G	A	UNC13D	c.2896C>T	NM_199242.2	NP_954712.1:p.(Arg966Trp)	NC_000017.10:g.73826167G>A	(Likely) benign	1 lab	579180c4f0
X:122318387 GRIA3 C>GCG	X	122318387	122318387	C	GCG	GRIA3	c.-1_1insG	NM_000828.4	NP_000819.3:p.(Met1?)	NC_000023.10:g.122318387delinsGCG	(Likely) benign	1 lab	5796f6c23c
13:52532492 ATP7B G>C	13	52532492	52532492	G	C	ATP7B	c.2310C>G	NM_000053.4	NP_000044.2:p.(Leu770=)	NC_000013.10:g.52532492G>C	VUS	1 lab	57a02d549c
15:40590824 PLCB2 G>C	15	40590824	40590824	G	C	PLCB2	c.936C>G	NM_004573.3	NP_004564.2:p.(His312Gln)	NC_000015.9:g.40590824G>C	(Likely) benign	1 lab	57a7c960b0
9:126128596 CRB2 C>T	9	126128596	126128596	C	T	CRB2	c.705C>T	NM_173689.7	NP_775960.4:p.(Asn235=)	NC_000009.11:g.126128596C>T	(Likely) benign	1 lab	57aa50356d
8:133492560 KCNQ3 G>A	8	133492560	133492560	G	A	KCNQ3	c.220C>T	NM_004519.4	NP_004510.1:p.(Arg74Cys)	NC_000008.10:g.133492560G>A	VUS	1 lab	57ac976b30
12:98927065 TMPO A>G	12	98927065	98927065	A	G	TMPO	c.1030A>G	NM_003276.2	NP_003267.1:p.(Arg344Gly)	NC_000012.11:g.98927065A>G	VUS	1 lab	57ae101313
17:76134237 TMC8 G>A	17	76134237	76134237	G	A	TMC8	c.1501G>A	NM_152468.4	NP_689681.2:p.(Val501Ile)	NC_000017.10:g.76134237G>A	(Likely) benign	1 lab	57b0d5a423
17:61566095 ACE A>G	17	61566095	61566095	A	G	ACE	c.2392A>G	NM_000789.4	NP_000780.1:p.(Ile798Val)	NC_000017.10:g.61566095A>G	(Likely) benign	1 lab	57b2c641cb
9:120476863 TLR4 A>G	9	120476863	120476863	A	G	TLR4	c.2337A>G	NM_003266.4	NP_003257.1:p.(Lys779=)	NC_000009.11:g.120476863A>G	(Likely) benign	1 lab	57b4d095ff
17:41063313 G6PC C>T	17	41063313	41063313	C	T	G6PC				NC_000017.10:g.41063313C>T	VUS	1 lab	57b570f58e
17:44073734 MAPT T>C	17	44073734	44073734	T	C	MAPT	c.1562-31T>C	NM_001123066.3	NP_001116538.2:p.?	NC_000017.10:g.44073734T>C	(Likely) benign	1 lab	57b85f6c08
2:15470846 NBAS C>T	2	15470846	15470846	C	T	NBAS	c.4223G>A	NM_015909.4	NP_056993.2:p.(Arg1408His)	NC_000002.11:g.15470846C>T	(Likely) benign	1 lab	57b903ea13
12:110024582 MVK G>T	12	110024582	110024582	G	T	MVK	c.655G>T	NM_000431.2	NP_000422.1:p.(Gly219Trp)	NC_000012.11:g.110024582G>T	(Likely) pathogenic	1 lab	57bb9c1229
12:103249012 PAH C>T	12	103249012	103249012	C	T	PAH	c.608G>A	NM_000277.3	NP_000268.1:p.(Cys203Tyr)	NC_000012.11:g.103249012C>T	(Likely) pathogenic	1 lab	57bc2da6e4
15:82444453 EFL1 G>A	15	82444453	82444453	G	A	EFL1	c.2342C>T	NM_024580.6	NP_078856.4:p.(Ser781Phe)	NC_000015.9:g.82444453G>A	(Likely) benign	1 lab	57bcad6a2f
15:100996083 CERS3 T>C	15	100996083	100996083	T	C	CERS3	c.1032+15A>G	NM_001290341.2	NP_001277270.1:p.?	NC_000015.9:g.100996083T>C	(Likely) benign	1 lab	57c06b8264
15:89865024 POLG G>A	15	89865024	89865024	G	A	POLG	c.2541C>T	NM_002693.2	NP_002684.1:p.(Ala847=)	NC_000015.9:g.89865024G>A	(Likely) benign	1 lab	57c505d8f5
2:73830445 ALMS1 AAC>A	2	73830445	73830448	AAC	A	ALMS1	c.12362+16_12362+17del	NM_001378454.1	NP_001365383.1:p.?	NC_000002.11:g.73830447_73830448del	(Likely) benign	1 lab	57ce940766
4:187539267 FAT1 C>T	4	187539267	187539267	C	T	FAT1	c.8473G>A	NM_005245.4	NP_005236.2:p.(Gly2825Arg)	NC_000004.11:g.187539267C>T	VUS	1 lab	57d1a9b95c
9:130586581 ENG A>G	9	130586581	130586581	A	G	ENG	c.1134+2T>C	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130586581A>G	(Likely) pathogenic	1 lab	57d6372329
16:2150092 PKD1 G>A	16	2150092	2150092	G	A	PKD1	c.9713-20C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2150092G>A	(Likely) benign	1 lab	57d68595be
1:158582552 SPTA1 G>A	1	158582552	158582552	G	A	SPTA1	c.7134+55C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158582552G>A	(Likely) benign	1 lab	57d6c966a3
6:152655372 SYNE1 C>T	6	152655372	152655372	C	T	SYNE1	c.12565G>A	NM_182961.4	NP_892006.3:p.(Val4189Met)	NC_000006.11:g.152655372C>T	(Likely) benign	1 lab	57d8690892
10:95111541 MYOF G>A	10	95111541	95111541	G	A	MYOF	c.3544C>T	NM_013451.4	NP_038479.1:p.(Leu1182=)	NC_000010.10:g.95111541G>A	(Likely) benign	1 lab	57d96e1b22
15:85186957 WDR73 G>A	15	85186957	85186957	G	A	WDR73	c.884-3C>T	NM_032856.5	NP_116245.2:p.?	NC_000015.9:g.85186957G>A	(Likely) benign	1 lab	cf972c8ebe
4:39187522 WDR19 G>T	4	39187522	39187522	G	T	WDR19	c.98+85G>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39187522G>T	(Likely) benign	1 lab	57dfc85606
16:9892362 GRIN2A G>A	16	9892362	9892362	G	A	GRIN2A	c.2169-41C>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9892362G>A	(Likely) benign	1 lab	57e33c8cb0
6:56500452 DST G>A	6	56500452	56500452	G	A	DST	c.1510C>T	NM_001723.7	NP_001714.1:p.(Arg504Trp)	NC_000006.11:g.56500452G>A	VUS	1 lab	cfa07fc23a
X:107858219 COL4A5 G>A	X	107858219	107858219	G	A	COL4A5	c.2474G>A	NM_000495.5	NP_000486.1:p.(Gly825Glu)	NC_000023.10:g.107858219G>A	(Likely) pathogenic	1 lab	57e7e919c2
2:228146991 COL4A3 A>AATAT	2	228146991	228147017	A	AATAT	COL4A3	c.2489-67_2489-64dup	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228147014_228147017dup	(Likely) benign	1 lab	57e9e26c0f
9:90585759 CDK20 C>T	9	90585759	90585759	C	T	CDK20	c.432G>A	NM_001039803.2	NP_001034892.1:p.(Ala144=)	NC_000009.11:g.90585759C>T	(Likely) benign	1 lab	57eeacd1a3
11:64509596 RASGRP2 G>A	11	64509596	64509596	G	A	RASGRP2	c.74-12C>T	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64509596G>A	(Likely) benign	1 lab	57f487bd4b
X:18599985 CDKL5 AT>A	X	18599985	18599995	AT	A	CDKL5	c.404-16del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18599995del	(Likely) benign	1 lab	57f64cb495
14:105180602 INF2 G>A	14	105180602	105180602	G	A	INF2	c.3103G>A	NM_022489.3	NP_071934.3:p.(Gly1035Ser)	NC_000014.8:g.105180602G>A	(Likely) benign	1 lab	57f74619e4
10:69948644 MYPN C>T	10	69948644	69948644	C	T	MYPN	c.2704-18C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69948644C>T	(Likely) benign	1 lab	57f96cf856
12:32893162 DNM1L C>T	12	32893162	32893162	C	T	DNM1L	c.1872C>T	NM_012062.5	NP_036192.2:p.(Asn624=)	NC_000012.11:g.32893162C>T	(Likely) benign	1 lab	57f98aec34
19:12921015 RNASEH2A G>A	19	12921015	12921015	G	A	RNASEH2A	c.542G>A	NM_006397.3	NP_006388.2:p.(Cys181Tyr)	NC_000019.9:g.12921015G>A	VUS	1 lab	cfa183a01a
6:39880653 MOCS1 C>T	6	39880653	39880653	C	T	MOCS1	c.853G>A	NM_005943.5	NP_005934.2:p.(Glu285Lys)	NC_000006.11:g.39880653C>T	(Likely) benign	1 lab	57fc002e52
10:43617401 RET T>C	10	43617401	43617401	T	C	RET	c.2738T>C	NM_020975.4	NP_066124.1:p.(Ile913Thr)	NC_000010.10:g.43617401T>C	VUS	1 lab	57fefeb25f
5:90055459 ADGRV1 T>C	5	90055459	90055459	T	C	ADGRV1	c.12120+54T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90055459T>C	(Likely) benign	1 lab	5803636cf9
15:86124461 AKAP13 C>T	15	86124461	86124461	C	T	AKAP13	c.3162C>T	NM_006738.6	NP_006729.4:p.(Ser1054=)	NC_000015.9:g.86124461C>T	(Likely) benign	1 lab	5807420c28
4:6616038 MAN2B2 G>A	4	6616038	6616038	G	A	MAN2B2	c.2657G>A	NM_015274.3	NP_056089.1:p.(Arg886His)	NC_000004.11:g.6616038G>A	(Likely) benign	1 lab	5808f83868
1:247592880 NLRP3 T>C	1	247592880	247592880	T	C	NLRP3	c.2151-7T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247592880T>C	(Likely) benign	1 lab	58109c1dd2
X:31462724 DMD C>T	X	31462724	31462724	C	T	DMD	c.8589G>A	NM_004010.3	NP_004001.1:p.(Ala2863=)	NC_000023.10:g.31462724C>T	(Likely) benign	1 lab	5813d7956a
2:166179953 SCN2A G>A	2	166179953	166179953	G	A	SCN2A	c.1959G>A	NM_001040142.2	NP_001035232.1:p.(Val653=)	NC_000002.11:g.166179953G>A	(Likely) benign	1 lab	5813e202c9
2:166003246 SCN3A T>C	2	166003246	166003246	T	C	SCN3A	c.1671+3A>G	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.166003246T>C	VUS	1 lab	cfa736b6ba
10:72360278 PRF1 G>A	10	72360278	72360278	G	A	PRF1	c.381C>T	NM_001083116.1	NP_001076585.1:p.(Asn127=)	NC_000010.10:g.72360278G>A	(Likely) benign	1 lab	581917ee49
X:13776437 OFD1 C>G	X	13776437	13776437	C	G	OFD1	c.1543-19C>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13776437C>G	(Likely) benign	1 lab	5821371e0c
14:65246623 SPTB T>C	14	65246623	65246623	T	C	SPTB	c.4293A>G	NM_001024858.3	NP_001020029.1:p.(Arg1431=)	NC_000014.8:g.65246623T>C	(Likely) benign	1 lab	582287405d
11:117869878 IL10RA C>T	11	117869878	117869878	C	T	IL10RA	c.1259C>T	NM_001558.3	NP_001549.2:p.(Ser420Leu)	NC_000011.9:g.117869878C>T	(Likely) benign	1 lab	58288f79c4
1:241676758 FH C>T	1	241676758	241676758	C	T	FH	c.378+145G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241676758C>T	(Likely) benign	1 lab	582eff578d
17:76120792 TMC6 T>C	17	76120792	76120792	T	C	TMC6	c.704A>G	NM_007267.6	NP_009198.4:p.(Lys235Arg)	NC_000017.10:g.76120792T>C	(Likely) benign	1 lab	5830667af3
17:73753575 ITGB4 G>A	17	73753575	73753575	G	A	ITGB4	c.5408G>A	NM_000213.5	NP_000204.3:p.(Arg1803Gln)	NC_000017.10:g.73753575G>A	(Likely) benign	1 lab	5832c7e2ce
10:78785190 KCNMA1 C>T	10	78785190	78785190	C	T	KCNMA1	c.1940+14G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78785190C>T	(Likely) benign	1 lab	5834e2e664
4:5803694 EVC G>C	4	5803694	5803694	G	C	EVC	c.2322G>C	NM_153717.3	NP_714928.1:p.(Ala774=)	NC_000004.11:g.5803694G>C	(Likely) benign	1 lab	5836d67198
2:24431123 ITSN2 C>T	2	24431123	24431123	C	T	ITSN2	c.4619G>A	NM_001348181.2	NP_001335110.1:p.(Arg1540His)	NC_000002.11:g.24431123C>T	(Likely) benign	1 lab	583a1c5e26
1:92443824 BRDT G>A	1	92443824	92443824	G	A	BRDT	c.1069G>A	NM_207189.4	NP_997072.2:p.(Glu357Lys)	NC_000001.10:g.92443824G>A	VUS	1 lab	cfa9186f25
10:78772500 KCNMA1 A>T	10	78772500	78772500	A	T	KCNMA1	c.2028-699T>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78772500A>T	(Likely) benign	1 lab	583a5c661e
X:53578359 HUWE1 C>T	X	53578359	53578359	C	T	HUWE1	c.8964G>A	NM_031407.7	NP_113584.3:p.(Gln2988=)	NC_000023.10:g.53578359C>T	(Likely) benign	1 lab	583d51d07b
3:195794545 TFRC G>A	3	195794545	195794545	G	A	TFRC	c.901-17C>T	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195794545G>A	(Likely) benign	1 lab	5844631022
7:2578128 BRAT1 C>T	7	2578128	2578128	C	T	BRAT1	c.2041G>A	NM_152743.4	NP_689956.2:p.(Glu681Lys)	NC_000007.13:g.2578128C>T	(Likely) benign	1 lab	58497541fb
12:6442974 TNFRSF1A C>T	12	6442974	6442974	C	T	TNFRSF1A	c.251G>A	NM_001065.3	NP_001056.1:p.(Cys84Tyr)	NC_000012.11:g.6442974C>T	(Likely) pathogenic	1 lab	584c920ce8
1:200574423 KIF14 C>T	1	200574423	200574423	C	T	KIF14	c.1734G>A	NM_014875.3	NP_055690.1:p.(Met578Ile)	NC_000001.10:g.200574423C>T	(Likely) benign	1 lab	584e86851a
2:109524191 EDAR T>C	2	109524191	109524191	T	C	EDAR	c.963+125A>G	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109524191T>C	(Likely) benign	1 lab	584f4b893f
1:198668761 PTPRC G>C	1	198668761	198668761	G	C	PTPRC	c.367G>C	NM_002838.5	NP_002829.3:p.(Asp123His)	NC_000001.10:g.198668761G>C	(Likely) benign	1 lab	58546cff9c
1:214507580 SMYD2 A>G	1	214507580	214507580	A	G	SMYD2	c.1150A>G	NM_020197.3	NP_064582.2:p.(Met384Val)	NC_000001.10:g.214507580A>G	(Likely) benign	1 lab	5856f21d71
1:237865340 RYR2 A>G	1	237865340	237865340	A	G	RYR2	c.9430A>G	NM_001035.3	NP_001026.2:p.(Lys3144Glu)	NC_000001.10:g.237865340A>G	VUS	1 lab	5861338acb
17:48155454 ITGA3 C>T	17	48155454	48155454	C	T	ITGA3	c.2184C>T	NM_002204.4	NP_002195.1:p.(His728=)	NC_000017.10:g.48155454C>T	(Likely) benign	1 lab	586662dd32
3:184091383 THPO T>TGGAA	3	184091383	184091388	T	TGGAA	THPO	c.229-17_229-14dup	NM_000460.4	NP_000451.1:p.?	NC_000003.11:g.184091385_184091388dup	(Likely) benign	1 lab	5868bfa085
X:21549969 CNKSR2 T>C	X	21549969	21549969	T	C	CNKSR2	c.1092-5T>C	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21549969T>C	(Likely) benign	1 lab	586b3922ae
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	586f0133da
16:4387300 GLIS2 G>A	16	4387300	4387300	G	A	GLIS2	c.1350G>A	NM_032575.2	NP_115964.2:p.(Ser450=)	NC_000016.9:g.4387300G>A	(Likely) benign	1 lab	5876835c1d
9:126132549 CRB2 C>T	9	126132549	126132549	C	T	CRB2	c.1217C>T	NM_173689.7	NP_775960.4:p.(Pro406Leu)	NC_000009.11:g.126132549C>T	(Likely) benign	1 lab	5876c043dc
9:130587568 ENG A>G	9	130587568	130587568	A	G	ENG	c.758T>C	NM_000118.3	NP_000109.1:p.(Leu253Pro)	NC_000009.11:g.130587568A>G	(Likely) pathogenic	1 lab	587a02336e
16:23387135 SCNN1B G>A	16	23387135	23387135	G	A	SCNN1B	c.1229G>A	NM_000336.3	NP_000327.2:p.(Arg410His)	NC_000016.9:g.23387135G>A	(Likely) benign	1 lab	587b8a3e31
3:4726798 ITPR1 G>A	3	4726798	4726798	G	A	ITPR1	c.3565G>A	NM_001168272.1	NP_001161744.1:p.(Val1189Met)	NC_000003.11:g.4726798G>A	(Likely) benign	1 lab	587f887f0e
16:2167057 PKD1 G>C	16	2167057	2167057	G	C	PKD1	c.1386-3C>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2167057G>C	(Likely) pathogenic	1 lab	588583b1b6
1:1147338 TNFRSF4 G>A	1	1147338	1147338	G	A	TNFRSF4	c.618C>T	NM_003327.4	NP_003318.1:p.(Pro206=)	NC_000001.10:g.1147338G>A	(Likely) benign	1 lab	588592fbfb
17:73751915 ITGB4 C>A	17	73751915	73751915	C	A	ITGB4	c.4692C>A	NM_000213.5	NP_000204.3:p.(Tyr1564Ter)	NC_000017.10:g.73751915C>A	(Likely) pathogenic	1 lab	588d375af8
11:17793307 KCNC1 G>A	11	17793307	17793307	G	A	KCNC1	c.666G>A	NM_001112741.1	NP_001106212.1:p.(Thr222=)	NC_000011.9:g.17793307G>A	(Likely) benign	1 lab	588ef1a333
14:105169535 INF2 T>C	14	105169535	105169535	T	C	INF2	c.485T>C	NM_022489.3	NP_071934.3:p.(Leu162Pro)	NC_000014.8:g.105169535T>C	(Likely) pathogenic	1 lab	58914c6db3
11:117864857 IL10RA C>T	11	117864857	117864857	C	T	IL10RA	c.681C>T	NM_001558.3	NP_001549.2:p.(Thr227=)	NC_000011.9:g.117864857C>T	(Likely) benign	1 lab	5894e1f68d
X:99924399 SRPX2 A>G	X	99924399	99924399	A	G	SRPX2	c.1217+33A>G	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99924399A>G	(Likely) benign	1 lab	589800b231
16:49670552 ZNF423 G>A	16	49670552	49670552	G	A	ZNF423	c.2511C>T	NM_015069.4	NP_055884.2:p.(Thr837=)	NC_000016.9:g.49670552G>A	(Likely) benign	1 lab	589b573b8e
12:125449151 DHX37 C>T	12	125449151	125449151	C	T	DHX37	c.1834G>A	NM_032656.4	NP_116045.2:p.(Gly612Arg)	NC_000012.11:g.125449151C>T	VUS	1 lab	cfaf566a84
22:32151028 DEPDC5 C>G	22	32151028	32151028	C	G	DEPDC5	c.58+63C>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32151028C>G	(Likely) benign	1 lab	58a71226eb
20:42815201 JPH2 C>T	20	42815201	42815201	C	T	JPH2	c.145G>A	NM_020433.5	NP_065166.2:p.(Ala49Thr)	NC_000020.10:g.42815201C>T	VUS	1 lab	cfaf65aa01
1:237965130 RYR2 C>T	1	237965130	237965130	C	T	RYR2	c.14091-26C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237965130C>T	(Likely) benign	1 lab	58b331a919
6:39851798 DAAM2 G>T	6	39851798	39851798	G	T	DAAM2	c.1906G>T	NM_001201427.2	NP_001188356.1:p.(Asp636Tyr)	NC_000006.11:g.39851798G>T	VUS	1 lab	58bbf8cb3c
8:68335001 CPA6 A>G	8	68335001	68335001	A	G	CPA6	c.1127-75T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68335001A>G	(Likely) benign	1 lab	58bd3e90e2
7:151573650 PRKAG2 C>T	7	151573650	151573650	C	T	PRKAG2	c.56G>A	NM_016203.4	NP_057287.2:p.(Gly19Glu)	NC_000007.13:g.151573650C>T	VUS	1 lab	cfb0a97bfc
9:131339569 SPTAN1 G>A	9	131339569	131339569	G	A	SPTAN1	c.930+17G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131339569G>A	(Likely) benign	1 lab	58c454c640
1:247599359 NLRP3 G>T	1	247599359	247599359	G	T	NLRP3	c.2580G>T	NM_001243133.2	NP_001230062.1:p.(Val860=)	NC_000001.10:g.247599359G>T	(Likely) benign	1 lab	58c7267efc
2:50780119 NRXN1 A>G	2	50780119	50780119	A	G	NRXN1	c.1485T>C	NM_001135659.2	NP_001129131.1:p.(Leu495=)	NC_000002.11:g.50780119A>G	(Likely) benign	1 lab	58c97bafcd
14:65270391 SPTB G>A	14	65270391	65270391	G	A	SPTB	c.408C>T	NM_001024858.3	NP_001020029.1:p.(His136=)	NC_000014.8:g.65270391G>A	(Likely) benign	1 lab	58ca163af6
10:21250605 NEBL C>T	10	21250605	21250605	C	T	NEBL	c.353G>A	NM_213569.2	NP_998734.1:p.(Ser118Asn)	NC_000010.10:g.21250605C>T	VUS	1 lab	58ced21bcc
6:135768390 AHI1 A>T	6	135768390	135768390	A	T	AHI1	c.1627-92T>A	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135768390A>T	(Likely) benign	1 lab	58d260faf0
1:229602487 NUP133 G>A	1	229602487	229602487	G	A	NUP133	c.2093C>T	NM_018230.3	NP_060700.2:p.(Thr698Ile)	NC_000001.10:g.229602487G>A	(Likely) benign	1 lab	58d3b63f83
12:110019330 MVK CTGAAGGACGG>C	12	110019330	110019340	CTGAAGGACGG	C	MVK	c.503_512del	NM_000431.4	NP_000422.1:p.(Leu168ArgfsTer14)	NC_000012.11:g.110019331_110019340del	(Likely) pathogenic	1 lab	58dbeb7bd4
9:14859279 FREM1 G>A	9	14859279	14859279	G	A	FREM1	c.533C>T	NM_144966.5	NP_659403.4:p.(Ala178Val)	NC_000009.11:g.14859279G>A	(Likely) benign	1 lab	58dcdf78f9
X:31198610 DMD C>T	X	31198610	31198610	C	T	DMD	c.9975-12G>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31198610C>T	(Likely) benign	1 lab	58dfdb8a46
X:2951226 ARSH C>G	X	2951226	2951226	C	G	ARSH	c.1489C>G	NM_001011719.2	NP_001011719.1:p.(Pro497Ala)	NC_000023.10:g.2951226C>G	(Likely) benign	1 lab	58e582ceef
6:152783949 SYNE1 G>A	6	152783949	152783949	G	A	SYNE1	c.2174C>T	NM_182961.4	NP_892006.3:p.(Thr725Met)	NC_000006.11:g.152783949G>A	(Likely) benign	1 lab	58e5e85886
4:79339950 FRAS1 G>C	4	79339950	79339950	G	C	FRAS1	c.4426-153G>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79339950G>C	(Likely) benign	1 lab	58e5fabaeb
14:76447066 TGFB3 A>C	14	76447066	76447066	A	C	TGFB3	c.171T>G	NM_003239.2	NP_003230.1:p.(Pro57=)	NC_000014.8:g.76447066A>C	(Likely) benign	1 lab	58e618c02e
1:38273851 YRDC A>C	1	38273851	38273851	A	C	YRDC	c.2T>G	NM_024640.4	NP_078916.3:p.(Met1?)	NC_000001.10:g.38273851A>C	VUS	1 lab	58edb398a9
7:6042119 PMS2 C>T	7	6042119	6042119	C	T	PMS2	c.502G>A	NM_000535.5	NP_000526.1:p.(Val168Met)	NC_000007.13:g.6042119C>T	VUS	1 lab	58efce71c4
12:98909893 TMPO C>T	12	98909893	98909893	C	T	TMPO	c.248C>T	NM_001032283.2	NP_001027454.1:p.(Ala83Val)	NC_000012.11:g.98909893C>T	(Likely) benign	1 lab	58f21f4436
16:84209498 DNAAF1 T>C	16	84209498	84209498	T	C	DNAAF1	c.1699-41T>C	NM_178452.6	NP_848547.4:p.?	NC_000016.9:g.84209498T>C	(Likely) benign	1 lab	cfb0ef6299
1:235920623 LYST G>A	1	235920623	235920623	G	A	LYST	c.7017C>T	NM_000081.3	NP_000072.2:p.(Leu2339=)	NC_000001.10:g.235920623G>A	(Likely) benign	1 lab	58f42efc7a
20:10630929 JAG1 G>GCA	20	10630929	10630938	G	GCA	JAG1	c.1198_1199dup	NM_000214.3	NP_000205.1:p.(Pro401AlafsTer12)	NC_000020.10:g.10630937_10630938dup	(Likely) pathogenic	1 lab	58f64b6113
18:59749993 PIGN A>G	18	59749993	59749993	A	G	PIGN	c.2503-14T>C	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59749993A>G	(Likely) benign	1 lab	58fc114176
16:3299339 MEFV C>T	16	3299339	3299339	C	T	MEFV	c.1260+92G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299339C>T	(Likely) benign	1 lab	590073e7d7
11:64573233 MEN1 G>C	11	64573233	64573233	G	C	MEN1	c.1074C>G	NM_000244.3	NP_000235.2:p.(Tyr358Ter)	NC_000011.9:g.64573233G>C	(Likely) pathogenic	1 lab	59036e35f1
16:1260973 CACNA1H T>TG	16	1260973	1260979	T	TG	CACNA1H	c.4223+8dup	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260979dup	(Likely) benign	1 lab	5904364615
14:74428069 COQ6 C>T	14	74428069	74428069	C	T	COQ6	c.1085C>T	NM_182476.3	NP_872282.1:p.(Ala362Val)	NC_000014.8:g.74428069C>T	(Likely) benign	1 lab	5905e276e8
2:27522384 TRIM54 C>A	2	27522384	27522384	C	A	TRIM54	c.514-14C>A	NM_032546.4	NP_115935.3:p.?	NC_000002.11:g.27522384C>A	(Likely) benign	1 lab	590607920d
11:64368943 SLC22A12 G>C	11	64368943	64368943	G	C	SLC22A12	c.1599-17G>C	NM_144585.4	NP_653186.2:p.?	NC_000011.9:g.64368943G>C	(Likely) benign	1 lab	590621799f
10:105657372 STN1 C>T	10	105657372	105657372	C	T	STN1	c.687G>A	NM_024928.5	NP_079204.2:p.(Leu229=)	NC_000010.10:g.105657372C>T	(Likely) benign	1 lab	590c3b7331
3:38616784 SCN5A G>A	3	38616784	38616784	G	A	SCN5A	c.3666+4C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38616784G>A	VUS	1 lab	590ff16854
19:42874995 MEGF8 CGGGGGG>C	19	42874995	42875024	CGGGGGG	C	MEGF8	c.7136+36_7136+41del	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42875019_42875024del	(Likely) benign	1 lab	59105b3057
1:74819767 TNNI3K T>G	1	74819767	74819767	T	G	TNNI3K	c.1131T>G	NM_015978.3	NP_057062.1:p.(Ser377Arg)	NC_000001.10:g.74819767T>G	VUS	1 lab	59276742bb
16:3708766 TRAP1 TGCAGTCATCCTAA>T	16	3708766	3708781	TGCAGTCATCCTAA	T	TRAP1	c.2013+15_2013+27del	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3708769_3708781del	(Likely) benign	1 lab	5910ca777d
14:45475329 TOGARAM1 C>A	14	45475329	45475329	C	A	TOGARAM1	c.2763C>A	NM_001308120.2	NP_001295049.1:p.(Ser921Arg)	NC_000014.8:g.45475329C>A	(Likely) benign	1 lab	591189b726
14:35871618 NFKBIA C>T	14	35871618	35871618	C	T	NFKBIA	c.888G>A	NM_020529.2	NP_065390.1:p.(Thr296=)	NC_000014.8:g.35871618C>T	(Likely) benign	1 lab	5913d50f62
1:32751108 LCK C>T	1	32751108	32751108	C	T	LCK	c.1328-7C>T	NM_005356.5	NP_005347.3:p.?	NC_000001.10:g.32751108C>T	(Likely) benign	1 lab	5914441809
2:179407554 TTN C>T	2	179407554	179407554	C	T	TTN	c.97027G>A	NM_001267550.2	NP_001254479.2:p.(Ala32343Thr)	NC_000002.11:g.179407554C>T	VUS	1 lab	cfb1785ad8
5:89931169 ADGRV1 T>A	5	89931169	89931169	T	A	ADGRV1	c.2016+62T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89931169T>A	(Likely) benign	1 lab	591d9f2c5a
16:88876813 APRT C>T	16	88876813	88876813	C	T	APRT	c.321+18G>A	NM_000485.3	NP_000476.1:p.?	NC_000016.9:g.88876813C>T	(Likely) benign	1 lab	5925171363
4:110662216 CFI AG>A	4	110662216	110662220	AG	A	CFI	c.1584del	NM_000204.5	NP_000195.3:p.(Leu529Ter)	NC_000004.11:g.110662220del	(Likely) pathogenic	1 lab	59302bffdd
8:41563685 ANK1 G>A	8	41563685	41563685	G	A	ANK1	c.2172C>T	NM_001142446.2	NP_001135918.1:p.(Gly724=)	NC_000008.10:g.41563685G>A	(Likely) benign	1 lab	5930e0bce9
14:67490316 GPHN A>G	14	67490316	67490316	A	G	GPHN	c.964-34A>G	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67490316A>G	(Likely) benign	1 lab	593a147854
19:48624522 LIG1 C>T	19	48624522	48624522	C	T	LIG1	c.2290G>A	NM_000234.1	NP_000225.1:p.(Ala764Thr)	NC_000019.9:g.48624522C>T	(Likely) benign	1 lab	593b430172
7:91726617 AKAP9 A>T	7	91726617	91726617	A	T	AKAP9	c.10344A>T	NM_005751.4	NP_005742.4:p.(Leu3448=)	NC_000007.13:g.91726617A>T	VUS	1 lab	593c542968
18:59821799 PIGN C>T	18	59821799	59821799	C	T	PIGN	c.528G>A	NM_176787.4	NP_789744.1:p.(Thr176=)	NC_000018.9:g.59821799C>T	(Likely) benign	1 lab	5940d17860
22:51121853 SHANK3 G>A	22	51121853	51121853	G	A	SHANK3	c.1188+8G>A	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51121853G>A	(Likely) benign	1 lab	594640a24b
14:23888444 MYH7 T>C	14	23888444	23888444	T	C	MYH7	c.3914A>G	NM_000257.2	NP_000248.2:p.(Lys1305Arg)	NC_000014.8:g.23888444T>C	(Likely) pathogenic	1 lab	594885bb74
16:1797130 MAPK8IP3 C>T	16	1797130	1797130	C	T	MAPK8IP3	c.845C>T	NM_001040439.2	NP_001035529.1:p.(Ser282Leu)	NC_000016.9:g.1797130C>T	VUS	1 lab	cfb7553543
4:72426133 SLC4A4 C>CTCTT	4	72426133	72426135	C	CTCTT	SLC4A4	c.3099+163_3099+164insCTTT	NM_001098484.2	NP_001091954.1:p.?	NC_000004.11:g.72426134_72426135insCTTT	(Likely) benign	1 lab	594a884471
3:38988272 SCN11A A>G	3	38988272	38988272	A	G	SCN11A	c.386+8T>C	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38988272A>G	(Likely) benign	1 lab	595394a462
17:42335883 SLC4A1 C>CGGAGGGGGCATCGGTG	17	42335883	42335904	C	CGGAGGGGGCATCGGTG	SLC4A1	c.969_984dup	NM_000342.4	NP_000333.1:p.(Glu329HisfsTer47)	NC_000017.10:g.42335889_42335904dup	(Likely) pathogenic	1 lab	5953f03572
19:13041054 FARSA C>T	19	13041054	13041054	C	T	FARSA	c.486G>A	NM_004461.3	NP_004452.1:p.(Arg162=)	NC_000019.9:g.13041054C>T	(Likely) benign	1 lab	59578af684
20:61981895 CHRNA4 G>T	20	61981895	61981895	G	T	CHRNA4	c.868C>A	NM_000744.6	NP_000735.1:p.(Leu290Met)	NC_000020.10:g.61981895G>T	(Likely) pathogenic	1 lab	595b8e645c
17:41247881 BRCA1 A>G	17	41247881	41247881	A	G	BRCA1	c.652T>C	NM_007294.3	NP_009225.1:p.(Leu218=)	NC_000017.10:g.41247881A>G	(Likely) benign	1 lab	595dc279f7
16:1251886 CACNA1H A>G	16	1251886	1251886	A	G	CACNA1H	c.1436A>G	NM_021098.3	NP_066921.2:p.(Tyr479Cys)	NC_000016.9:g.1251886A>G	(Likely) benign	1 lab	5967b4024e
5:90025380 ADGRV1 T>A	5	90025380	90025380	T	A	ADGRV1	c.10427-79T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90025380T>A	(Likely) benign	1 lab	59730c6d29
15:93472544 CHD2 T>G	15	93472544	93472544	T	G	CHD2	c.443+223T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93472544T>G	(Likely) benign	1 lab	59762e0c81
20:3899375 PANK2 C>T	20	3899375	3899375	C	T	PANK2	c.1594C>T	NM_153638.3	NP_705902.2:p.(Arg532Trp)	NC_000020.10:g.3899375C>T	(Likely) pathogenic	1 lab	59773c8d36
19:17875233 FCHO1 C>G	19	17875233	17875233	C	G	FCHO1	c.169C>G	NM_015122.3	NP_055937.1:p.(Leu57Val)	NC_000019.9:g.17875233C>G	(Likely) benign	1 lab	597afcb84f
18:2928572 LPIN2 AT>A	18	2928572	2928573	AT	A	LPIN2	c.1620+16del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2928573del	(Likely) benign	1 lab	5985d3202e
5:169230163 DOCK2 G>A	5	169230163	169230163	G	A	DOCK2	c.2656G>A	NM_004946.3	NP_004937.1:p.(Val886Ile)	NC_000005.9:g.169230163G>A	(Likely) benign	1 lab	59864c52b3
8:55372085 SOX17 T>A	8	55372085	55372085	T	A	SOX17	c.775T>A	NM_022454.4	NP_071899.1:p.(Tyr259Asn)	NC_000008.10:g.55372085T>A	(Likely) benign	1 lab	599a7c3695
6:129781422 LAMA2 G>T	6	129781422	129781422	G	T	LAMA2	c.6945G>T	NM_000426.3	NP_000417.2:p.(Leu2315Phe)	NC_000006.11:g.129781422G>T	(Likely) benign	1 lab	599b02a7da
15:93485212 CHD2 A>T	15	93485212	93485212	A	T	CHD2	c.826+27A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93485212A>T	(Likely) benign	1 lab	599b7e8ed0
3:37045961 MLH1 T>A	3	37045961	37045961	T	A	MLH1	c.376T>A	NM_000249.3	NP_000240.1:p.(Tyr126Asn)	NC_000003.11:g.37045961T>A	VUS	1 lab	5c45f3087b
1:218607439 TGFB2 G>A	1	218607439	218607439	G	A	TGFB2	c.610G>A	NM_001135599.3	NP_001129071.1:p.(Asp204Asn)	NC_000001.10:g.218607439G>A	VUS	1 lab	599daaf770
17:48155425 ITGA3 G>A	17	48155425	48155425	G	A	ITGA3	c.2155G>A	NM_002204.4	NP_002195.1:p.(Ala719Thr)	NC_000017.10:g.48155425G>A	(Likely) benign	1 lab	599e5ee646
9:140772477 CACNA1B G>T	9	140772477	140772477	G	T	CACNA1B	c.92G>T	NM_000718.4	NP_000709.1:p.(Gly31Val)	NC_000009.11:g.140772477G>T	(Likely) benign	1 lab	cfb9ff1fde
10:74953308 FAM149B1 G>T	10	74953308	74953308	G	T	FAM149B1	c.499G>T	NM_173348.2	NP_775483.1:p.(Ala167Ser)	NC_000010.10:g.74953308G>T	(Likely) benign	1 lab	59a2ea77f9
10:33200558 ITGB1 G>A	10	33200558	33200558	G	A	ITGB1	c.1749C>T	NM_002211.4	NP_002202.2:p.(Pro583=)	NC_000010.10:g.33200558G>A	(Likely) benign	1 lab	59a3b5ed41
8:41575749 ANK1 CA>C	8	41575749	41575751	CA	C	ANK1	c.1108-28del	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41575751del	(Likely) benign	1 lab	59a5a6f49d
19:16594722 CALR3 G>C	19	16594722	16594722	G	C	CALR3	c.678+19C>G	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16594722G>C	(Likely) benign	1 lab	5bd23cbc82
X:76919013 ATRX T>C	X	76919013	76919013	T	C	ATRX	c.3978A>G	NM_000489.5	NP_000480.3:p.(Ser1326=)	NC_000023.10:g.76919013T>C	(Likely) benign	1 lab	59ab6bc653
15:53994463 WDR72 T>G	15	53994463	53994463	T	G	WDR72	c.1437A>C	NM_182758.4	NP_877435.3:p.(Gln479His)	NC_000015.9:g.53994463T>G	(Likely) benign	1 lab	59ad2fcb13
17:41199682 BRCA1 C>T	17	41199682	41199682	C	T	BRCA1	c.5445G>A	NM_007294.3	NP_009225.1:p.(Trp1815Ter)	NC_000017.10:g.41199682C>T	(Likely) pathogenic	1 lab	59b021c656
17:4805494 CHRNE G>A	17	4805494	4805494	G	A	CHRNE	c.344+18C>T	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4805494G>A	(Likely) benign	1 lab	59c23531f9
8:145640740 SLC39A4 C>T	8	145640740	145640740	C	T	SLC39A4	c.538G>A	NM_130849.4	NP_570901.3:p.(Gly180Ser)	NC_000008.10:g.145640740C>T	VUS	1 lab	cfbac6b75e
17:73836412 UNC13D T>C	17	73836412	73836412	T	C	UNC13D	c.754-2A>G	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836412T>C	VUS	1 lab	59c7ee5951
X:49107869 FOXP3 C>T	X	49107869	49107869	C	T	FOXP3	c.1222G>A	NM_014009.3	NP_054728.2:p.(Val408Met)	NC_000023.10:g.49107869C>T	(Likely) pathogenic	1 lab	59cafa8e56
4:79229294 FRAS1 G>A	4	79229294	79229294	G	A	FRAS1	c.1609G>A	NM_025074.7	NP_079350.5:p.(Val537Met)	NC_000004.11:g.79229294G>A	(Likely) benign	1 lab	59d475b015
2:166226581 SCN2A A>C	2	166226581	166226581	A	C	SCN2A	c.3676-55A>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166226581A>C	(Likely) benign	1 lab	59d700f4b0
14:97327059 VRK1 AAAC>A	14	97327059	97327064	AAAC	A	VRK1	c.1058_1060del	NM_003384.3	NP_003375.1:p.(Thr353del)	NC_000014.8:g.97327062_97327064del	(Likely) benign	1 lab	59db15650a
15:41388412 INO80 G>A	15	41388412	41388412	G	A	INO80	c.97C>T	NM_017553.3	NP_060023.1:p.(His33Tyr)	NC_000015.9:g.41388412G>A	(Likely) benign	1 lab	59dc6df267
6:32814929 TAP1 C>T	6	32814929	32814929	C	T	TAP1	c.2136G>A	NM_000593.5	NP_000584.2:p.(Ala712=)	NC_000006.11:g.32814929C>T	(Likely) benign	1 lab	59e14d301f
2:70439890 TIA1 C>T	2	70439890	70439890	C	T	TIA1	c.699G>A	NM_001351517.2	NP_001338446.1:p.(Gln233=)	NC_000002.11:g.70439890C>T	(Likely) benign	1 lab	59e34fd700
15:93487908 CHD2 G>A	15	93487908	93487908	G	A	CHD2	c.1153+163G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93487908G>A	(Likely) benign	1 lab	59e3708a1b
9:711294 KANK1 G>A	9	711294	711294	G	A	KANK1	c.528G>A	NM_015158.4	NP_055973.2:p.(Pro176=)	NC_000009.11:g.711294G>A	(Likely) benign	1 lab	59e39f055e
6:33411299 SYNGAP1 C>T	6	33411299	33411299	C	T	SYNGAP1	c.2970C>T	NM_006772.3	NP_006763.2:p.(Ser990=)	NC_000006.11:g.33411299C>T	(Likely) benign	1 lab	59e60b9c86
14:23886897 MYH7 T>C	14	23886897	23886897	T	C	MYH7	c.4170-2A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886897T>C	VUS	1 lab	59e7b982c0
9:14740300 FREM1 A>G	9	14740300	14740300	A	G	FREM1	c.6255-68T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14740300A>G	(Likely) benign	1 lab	59ea7eb15a
2:167089713 SCN9A A>ATATG	2	167089713	167089719	A	ATATG	SCN9A	c.3891+133_3891+136dup	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089716_167089719dup	(Likely) benign	1 lab	59eba347d7
3:77666724 ROBO2 G>A	3	77666724	77666724	G	A	ROBO2	c.3354G>A	NM_002942.5	NP_002933.1:p.(Leu1118=)	NC_000003.11:g.77666724G>A	(Likely) benign	1 lab	59ec188f9a
10:101969562 CHUK A>C	10	101969562	101969562	A	C	CHUK	c.934-16T>G	NM_001278.5	NP_001269.3:p.?	NC_000010.10:g.101969562A>C	(Likely) benign	1 lab	59ed782d61
5:90059092 ADGRV1 G>T	5	90059092	90059092	G	T	ADGRV1	c.12121-30G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059092G>T	(Likely) benign	1 lab	59eda8593c
8:48852216 PRKDC A>T	8	48852216	48852216	A	T	PRKDC	c.1008T>A	NM_006904.6	NP_008835.5:p.(Asn336Lys)	NC_000008.10:g.48852216A>T	(Likely) benign	1 lab	59f185a58e
X:48761984 SLC35A2 C>G	X	48761984	48761984	C	G	SLC35A2	c.612G>C	NM_001032289.3	NP_001027460.1:p.(Gly204=)	NC_000023.10:g.48761984C>G	(Likely) benign	1 lab	59f2a5cecb
7:26412180 SNX10 G>A	7	26412180	26412180	G	A	SNX10	c.594G>A	NM_001199835.1	NP_001186764.1:p.(Pro198=)	NC_000007.13:g.26412180G>A	(Likely) benign	1 lab	59f70ea00d
22:18633003 USP18 T>A	22	18633003	18633003	T	A	USP18	c.-107+14T>A	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18633003T>A	(Likely) benign	1 lab	59fbd72f89
18:3135644 MYOM1 C>T	18	3135644	3135644	C	T	MYOM1	c.2110G>A	NM_003803.3	NP_003794.3:p.(Glu704Lys)	NC_000018.9:g.3135644C>T	(Likely) benign	1 lab	59fd643502
12:49421685 KMT2D CTTGCCTTCCAGACCCT>C	12	49421685	49421703	CTTGCCTTCCAGACCCT	C	KMT2D	c.14528_14543del	NM_003482.4	NP_003473.3:p.(Lys4843ArgfsTer10)	NC_000012.11:g.49421688_49421703del	(Likely) pathogenic	1 lab	5a01285c4b
11:64359151 SLC22A12 G>A	11	64359151	64359151	G	A	SLC22A12	c.123G>A	NM_144585.4	NP_653186.2:p.(Ser41=)	NC_000011.9:g.64359151G>A	(Likely) benign	1 lab	5a0439eb28
5:38886290 OSMR G>A	5	38886290	38886290	G	A	OSMR	c.989G>A	NM_003999.3	NP_003990.1:p.(Arg330Gln)	NC_000005.9:g.38886290G>A	(Likely) benign	1 lab	cfcdac932c
1:65334974 JAK1 C>T	1	65334974	65334974	C	T	JAK1	c.647+20G>A	NM_001321853.2	NP_001308782.1:p.?	NC_000001.10:g.65334974C>T	(Likely) benign	1 lab	5a0921cfb1
12:110019197 MVK C>T	12	110019197	110019197	C	T	MVK	c.372-3C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110019197C>T	VUS	1 lab	5a0aab70cf
14:65240260 SPTB G>A	14	65240260	65240260	G	A	SPTB	c.4974-118C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65240260G>A	(Likely) benign	1 lab	5a0ad153be
3:10183790 VHL G>GA	3	10183790	10183791	G	GA	VHL	c.259_260insA	NM_000551.3	NP_000542.1:p.(Val87AspfsTer45)	NC_000003.11:g.10183790_10183791insA	(Likely) pathogenic	1 lab	5a0cc67364
6:7581206 DSP G>C	6	7581206	7581206	G	C	DSP	c.4783G>C	NM_004415.2	NP_004406.2:p.(Glu1595Gln)	NC_000006.11:g.7581206G>C	VUS	1 lab	5a11f780e3
11:6636286 TPP1 T>C	11	6636286	6636286	T	C	TPP1	c.1426-64A>G	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6636286T>C	(Likely) benign	1 lab	5a1ccaef6a
16:27786255 KATNIP C>T	16	27786255	27786255	C	T	KATNIP	c.4310-11C>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27786255C>T	(Likely) benign	1 lab	5a1d291f7d
10:99502897 ZFYVE27 G>A	10	99502897	99502897	G	A	ZFYVE27	c.244G>A	NM_144588.7	NP_653189.3:p.(Val82Ile)	NC_000010.10:g.99502897G>A	(Likely) benign	1 lab	5a20daed4b
2:27522109 TRIM54 C>T	2	27522109	27522109	C	T	TRIM54	c.342-4C>T	NM_032546.4	NP_115935.3:p.?	NC_000002.11:g.27522109C>T	(Likely) benign	1 lab	5a247962f6
11:1269969 MUC5B G>A	11	1269969	1269969	G	A	MUC5B	c.11859G>A	NM_002458.3	NP_002449.2:p.(Thr3953=)	NC_000011.9:g.1269969G>A	(Likely) benign	1 lab	5a298aa35c
6:152497640 SYNE1 A>G	6	152497640	152497640	A	G	SYNE1	c.23516T>C	NM_182961.4	NP_892006.3:p.(Met7839Thr)	NC_000006.11:g.152497640A>G	VUS	1 lab	5a2c03b1cc
19:54392989 PRKCG G>T	19	54392989	54392989	G	T	PRKCG	c.383G>T	NM_002739.3	NP_002730.1:p.(Gly128Val)	NC_000019.9:g.54392989G>T	VUS	1 lab	5a31c20383
16:3725388 TRAP1 C>T	16	3725388	3725388	C	T	TRAP1	c.825G>A	NM_016292.3	NP_057376.2:p.(Thr275=)	NC_000016.9:g.3725388C>T	(Likely) benign	1 lab	5a3afd810f
16:2157864 PKD1 G>A	16	2157864	2157864	G	A	PKD1	c.7065+20C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2157864G>A	(Likely) benign	1 lab	5a3b5ad17b
6:49582288 RHAG C>T	6	49582288	49582288	C	T	RHAG	c.807+112G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49582288C>T	(Likely) benign	1 lab	5a3b951c60
9:123732438 C5 C>T	9	123732438	123732438	C	T	C5	c.4162+10G>A	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123732438C>T	(Likely) benign	1 lab	5a3e3a67d6
1:160099305 ATP1A2 C>T	1	160099305	160099305	C	T	ATP1A2				NC_000001.10:g.160099305C>T	(Likely) benign	1 lab	5a40ab9e63
18:28666698 DSC2 A>C	18	28666698	28666698	A	C	DSC2	c.783T>G	NM_004949.5	NP_004940.1:p.(Thr261=)	NC_000018.9:g.28666698A>C	(Likely) benign	1 lab	cfd2438697
1:1737984 GNB1 G>T	1	1737984	1737984	G	T	GNB1	c.204-7C>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1737984G>T	(Likely) benign	1 lab	5a446b960f
15:89872483 POLG C>T	15	89872483	89872483	C	T	POLG	c.856-142G>A	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89872483C>T	(Likely) benign	1 lab	5a47b23ba8
17:39919520 JUP G>A	17	39919520	39919520	G	A	JUP	c.1212C>T	NM_002230.2	NP_002221.1:p.(Asp404=)	NC_000017.10:g.39919520G>A	(Likely) benign	1 lab	5a49c60424
20:30408142 MYLK2 G>A	20	30408142	30408142	G	A	MYLK2	c.266G>A	NM_033118.3	NP_149109.1:p.(Gly89Asp)	NC_000020.10:g.30408142G>A	(Likely) benign	1 lab	5a50767413
11:101362567 TRPC6 C>T	11	101362567	101362567	C	T	TRPC6	c.946-98G>A	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101362567C>T	(Likely) benign	1 lab	5a51573ca0
12:53456438 TNS2 C>T	12	53456438	53456438	C	T	TNS2	c.3810C>T	NM_015319.2	NP_056134.2:p.(Pro1270=)	NC_000012.11:g.53456438C>T	(Likely) benign	1 lab	5a56e7147b
2:241810058 AGXT C>A	2	241810058	241810058	C	A	AGXT	c.359-3C>A	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241810058C>A	(Likely) benign	1 lab	5a5c91519c
2:47630442 MSH2 G>T	2	47630442	47630442	G	T	MSH2	c.112G>T	NM_000251.2	NP_000242.1:p.(Asp38Tyr)	NC_000002.11:g.47630442G>T	VUS	1 lab	5a6443745f
1:33478983 AK2 G>A	1	33478983	33478983	G	A	AK2				NC_000001.10:g.33478983G>A	(Likely) benign	1 lab	5a69c86489
11:6645635 DCHS1 G>A	11	6645635	6645635	G	A	DCHS1	c.7286-14C>T	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6645635G>A	(Likely) benign	1 lab	5a6a94c049
X:154182266 F8 G>A	X	154182266	154182266	G	A	F8	c.1804C>T	NM_000132.3	NP_000123.1:p.(Arg602Ter)	NC_000023.10:g.154182266G>A	(Likely) pathogenic	1 lab	5a6c410866
19:41220518 COQ8B C>T	19	41220518	41220518	C	T	COQ8B	c.20G>A	NM_024876.4	NP_079152.3:p.(Gly7Asp)	NC_000019.9:g.41220518C>T	(Likely) benign	1 lab	5a6c941786
9:135862165 GFI1B G>A	9	135862165	135862165	G	A	GFI1B	c.100G>A	NM_004188.5	NP_004179.3:p.(Val34Met)	NC_000009.11:g.135862165G>A	(Likely) benign	1 lab	5a6ca373ad
2:26462021 HADHA A>C	2	26462021	26462021	A	C	HADHA	c.68-10T>G	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26462021A>C	(Likely) benign	1 lab	5a6dab2132
1:235969077 LYST C>A	1	235969077	235969077	C	A	LYST	c.3359G>T	NM_000081.3	NP_000072.2:p.(Ser1120Ile)	NC_000001.10:g.235969077C>A	(Likely) benign	1 lab	5a6e205c6f
20:62318977 RTEL1 C>T	20	62318977	62318977	C	T	RTEL1	c.680-14C>T	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62318977C>T	(Likely) benign	1 lab	5a6fb3db62
17:73726443 ITGB4 G>A	17	73726443	73726443	G	A	ITGB4	c.860G>A	NM_000213.5	NP_000204.3:p.(Arg287Gln)	NC_000017.10:g.73726443G>A	(Likely) benign	1 lab	5a70d5638d
18:56400611 MALT1 T>C	18	56400611	56400611	T	C	MALT1	c.1223-18T>C	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56400611T>C	(Likely) benign	1 lab	5a71fdbd83
X:153760685 G6PD GGA>G	X	153760685	153760692	GGA	G	G6PD	c.1288-10_1288-9del	NM_001360016.2	NP_001346945.1:p.?	NC_000023.10:g.153760691_153760692del	(Likely) benign	1 lab	5a7493cd34
17:48148230 ITGA3 C>T	17	48148230	48148230	C	T	ITGA3	c.687C>T	NM_002204.4	NP_002195.1:p.(Arg229=)	NC_000017.10:g.48148230C>T	(Likely) benign	1 lab	5a75645226
10:96022497 PLCE1 C>T	10	96022497	96022497	C	T	PLCE1	c.4053+8C>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96022497C>T	(Likely) benign	1 lab	5a7bb78059
1:2338205 PEX10 G>A	1	2338205	2338205	G	A	PEX10	c.790C>T	NM_153818.1	NP_722540.1:p.(Arg264Ter)	NC_000001.10:g.2338205G>A	(Likely) pathogenic	1 lab	5a9aca1d7d
12:2693752 CACNA1C G>A	12	2693752	2693752	G	A	CACNA1C	c.2308G>A	NM_000719.7	NP_000710.5:p.(Glu770Lys)	NC_000012.11:g.2693752G>A	VUS	1 lab	cfd4fd09c4
5:140954717 DIAPH1 G>C	5	140954717	140954717	G	C	DIAPH1	c.1462-4C>G	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140954717G>C	(Likely) benign	1 lab	5a86987e1c
9:136294729 ADAMTS13 C>CT	9	136294729	136294730	C	CT	ADAMTS13	c.825-329dup	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136294730dup	(Likely) benign	1 lab	5a875be6ed
12:110029134 MVK C>T	12	110029134	110029134	C	T	MVK	c.857C>T	NM_000431.2	NP_000422.1:p.(Pro286Leu)	NC_000012.11:g.110029134C>T	VUS	1 lab	5a88d5ff31
1:92946468 GFI1 G>T	1	92946468	92946468	G	T	GFI1	c.476C>A	NM_005263.3	NP_005254.2:p.(Pro159Gln)	NC_000001.10:g.92946468G>T	(Likely) benign	1 lab	5a94746db9
7:116423431 MET A>C	7	116423431	116423431	A	C	MET	c.3760A>C	NM_001127500.1	NP_001120972.1:p.(Ser1254Arg)	NC_000007.13:g.116423431A>C	VUS	1 lab	5a971c1f6e
6:32412480 HLA-DRA G>A	6	32412480	32412480	G	A	HLA-DRA	c.*63G>A	NM_019111.5	NP_061984.2:p.?	NC_000006.11:g.32412480G>A	(Likely) benign	1 lab	cfd50ceb43
X:54476590 FGD1 G>C	X	54476590	54476590	G	C	FGD1	c.2046+114C>G	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54476590G>C	(Likely) benign	1 lab	5aa2f39d0f
1:158613207 SPTA1 C>A	1	158613207	158613207	C	A	SPTA1	c.4347G>T	NM_003126.3	NP_003117.2:p.(Lys1449Asn)	NC_000001.10:g.158613207C>A	VUS	1 lab	5aa8bf99d9
4:79360372 FRAS1 A>G	4	79360372	79360372	A	G	FRAS1	c.5529+154A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79360372A>G	(Likely) benign	1 lab	5aa9ebb289
19:36342723 NPHS1 G>A	19	36342723	36342723	G	A	NPHS1	c.17C>T	NM_004646.3	NP_004637.1:p.(Thr6Met)	NC_000019.9:g.36342723G>A	(Likely) benign	1 lab	5aae201e4e
2:46574131 EPAS1 C>A	2	46574131	46574131	C	A	EPAS1	c.146C>A	NM_001430.5	NP_001421.2:p.(Ser49Tyr)	NC_000002.11:g.46574131C>A	(Likely) benign	1 lab	5aae96a0be
12:110019322 MVK C>T	12	110019322	110019322	C	T	MVK	c.494C>T	NM_000431.2	NP_000422.1:p.(Pro165Leu)	NC_000012.11:g.110019322C>T	(Likely) pathogenic	1 lab	5ab474d664
20:32345029 ZNF341 C>T	20	32345029	32345029	C	T	ZNF341	c.817C>T	NM_032819.4	NP_116208.3:p.(Pro273Ser)	NC_000020.10:g.32345029C>T	(Likely) benign	1 lab	5ab7329fc5
12:15722557 PTPRO T>C	12	15722557	15722557	T	C	PTPRO	c.2829+125T>C	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15722557T>C	(Likely) benign	1 lab	5ab81f1ab8
2:227898174 COL4A4 TCAGGCCAGGTGATCCGGAGGGACCTGAAAAACACCA>T	2	227898174	227898216	TCAGGCCAGGTGATCCGGAGGGACCTGAAAAACACCA	T	COL4A4	c.3506-13_3528del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227898181_227898216del	(Likely) pathogenic	1 lab	5ab869b097
19:7707366 STXBP2 C>T	19	7707366	7707366	C	T	STXBP2	c.879C>T	NM_001272034.2	NP_001258963.1:p.(Asp293=)	NC_000019.9:g.7707366C>T	(Likely) benign	1 lab	5abb67e552
18:59814085 PIGN T>C	18	59814085	59814085	T	C	PIGN	c.805+119A>G	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59814085T>C	(Likely) benign	1 lab	5ac0f27766
21:34660480 IL10RB G>A	21	34660480	34660480	G	A	IL10RB				NC_000021.8:g.34660480G>A	(Likely) benign	1 lab	5ac347e7f0
4:151749759 LRBA C>T	4	151749759	151749759	C	T	LRBA	c.4744G>A	NM_001199282.2	NP_001186211.2:p.(Ala1582Thr)	NC_000004.11:g.151749759C>T	(Likely) benign	1 lab	5ac5f2bb69
22:35782824 HMOX1 C>T	22	35782824	35782824	C	T	HMOX1	c.291C>T	NM_002133.3	NP_002124.1:p.(Tyr97=)	NC_000022.10:g.35782824C>T	(Likely) benign	1 lab	5ac6109d81
10:73116013 SLC29A3 C>T	10	73116013	73116013	C	T	SLC29A3	c.773+13C>T	NM_018344.6	NP_060814.4:p.?	NC_000010.10:g.73116013C>T	(Likely) benign	1 lab	5acc0e55bb
10:98002553 BLNK A>T	10	98002553	98002553	A	T	BLNK	c.114-13T>A	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.98002553A>T	(Likely) benign	1 lab	5acc41d1a0
X:32509476 DMD G>C	X	32509476	32509476	G	C	DMD	c.2171C>G	NM_004010.3	NP_004001.1:p.(Thr724Ser)	NC_000023.10:g.32509476G>C	VUS	1 lab	5ad36496b7
13:101077892 PCCA A>T	13	101077892	101077892	A	T	PCCA	c.1752A>T	NM_000282.4	NP_000273.2:p.(Glu584Asp)	NC_000013.10:g.101077892A>T	(Likely) benign	1 lab	5adb946f65
1:228559441 OBSCN GC>G	1	228559441	228559446	GC	G	OBSCN	c.23838del	NM_001386125.1	NP_001373054.1:p.(Ser7947ProfsTer82)	NC_000001.10:g.228559446del	VUS	1 lab	5add405f28
X:154132580 F8 G>A	X	154132580	154132580	G	A	F8	c.5806C>T	NM_000132.3	NP_000123.1:p.(Arg1936Cys)	NC_000023.10:g.154132580G>A	(Likely) pathogenic	1 lab	5ade3b7cbb
16:2140154 PKD1 G>T	16	2140154	2140154	G	T	PKD1	c.12486C>A	NM_001009944.2	NP_001009944.2:p.(Pro4162=)	NC_000016.9:g.2140154G>T	(Likely) benign	1 lab	5ae335aa1b
1:6272342 RNF207 C>T	1	6272342	6272342	C	T	RNF207	c.1348C>T	NM_207396.3	NP_997279.2:p.(Arg450Ter)	NC_000001.10:g.6272342C>T	VUS	1 lab	5be541ec73
12:110019196 MVK TCAGGGCCCTGCCGAGCCTGGATATCGTAGTGTGGTCGGAGCTGCCCCCCGGGGCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAA>T	12	110019196	110019356	TCAGGGCCCTGCCGAGCCTGGATATCGTAGTGTGGTCGGAGCTGCCCCCCGGGGCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCTGGCAGCAGCCCTCCTGACTGTGTGCGAGGAGATCCCAAACCCGCTGAAGGACGGGGATTGCGTCAA	T	MVK	c.373_527+1del	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110019201_110019356del	(Likely) pathogenic	1 lab	5ae3f4d6cf
1:89735135 GBP5 G>A	1	89735135	89735135	G	A	GBP5	c.104C>T	NM_052942.4	NP_443174.1:p.(Thr35Met)	NC_000001.10:g.89735135G>A	(Likely) benign	1 lab	5ae4642a84
5:79048494 CMYA5 G>A	5	79048494	79048494	G	A	CMYA5	c.10992-5G>A	NM_153610.5	NP_705838.3:p.?	NC_000005.9:g.79048494G>A	(Likely) benign	1 lab	5ae692ff4b
11:71146579 DHCR7 C>T	11	71146579	71146579	C	T	DHCR7	c.1270G>A	NM_001360.3	NP_001351.2:p.(Gly424Ser)	NC_000011.9:g.71146579C>T	VUS	1 lab	cfd87943c4
1:100380934 AGL G>A	1	100380934	100380934	G	A	AGL	c.4162-11G>A	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100380934G>A	(Likely) benign	1 lab	5aee8b775f
15:82444527 EFL1 C>A	15	82444527	82444527	C	A	EFL1	c.2268G>T	NM_024580.6	NP_078856.4:p.(Met756Ile)	NC_000015.9:g.82444527C>A	(Likely) benign	1 lab	5af0145c99
6:32816443 TAP1 C>T	6	32816443	32816443	C	T	TAP1	c.1732G>A	NM_000593.5	NP_000584.2:p.(Val578Ile)	NC_000006.11:g.32816443C>T	(Likely) benign	1 lab	5af182cba4
11:65306785 LTBP3 G>C	11	65306785	65306785	G	C	LTBP3	c.3760+14C>G	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65306785G>C	(Likely) benign	1 lab	5af2e9b859
18:32409453 DTNA G>A	18	32409453	32409453	G	A	DTNA	c.221G>A	NM_001198942.1	NP_001185871.1:p.(Arg74His)	NC_000018.9:g.32409453G>A	(Likely) pathogenic	1 lab	5af9ca86ae
X:129041353 UTP14A T>G	X	129041353	129041353	T	G	UTP14A	c.37T>G	NM_006649.4	NP_006640.2:p.(Leu13Val)	NC_000023.10:g.129041353T>G	(Likely) benign	1 lab	5afb94109b
15:48805788 FBN1 G>A	15	48805788	48805788	G	A	FBN1	c.1546C>T	NM_000138.4	NP_000129.3:p.(Arg516Ter)	NC_000015.9:g.48805788G>A	(Likely) pathogenic	1 lab	5afc5e3daf
20:10620492 JAG1 T>C	20	10620492	10620492	T	C	JAG1	c.3311A>G	NM_000214.3	NP_000205.1:p.(His1104Arg)	NC_000020.10:g.10620492T>C	(Likely) benign	1 lab	5b070d236c
3:123457908 MYLK C>A	3	123457908	123457908	C	A	MYLK	c.424G>T	NM_053025.3	NP_444253.3:p.(Asp142Tyr)	NC_000003.11:g.123457908C>A	VUS	1 lab	5b072d1d67
12:110028943 MVK C>T	12	110028943	110028943	C	T	MVK	c.769-103C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110028943C>T	(Likely) benign	1 lab	5b0b14acea
1:6266793 RNF207 G>C	1	6266793	6266793	G	C	RNF207	c.191+7G>C	NM_207396.3	NP_997279.2:p.?	NC_000001.10:g.6266793G>C	(Likely) benign	1 lab	5b0ba3058f
12:50349336 AQP2 G>T	12	50349336	50349336	G	T	AQP2	c.761G>T	NM_000486.5	NP_000477.1:p.(Arg254Leu)	NC_000012.11:g.50349336G>T	(Likely) pathogenic	1 lab	5b0be2b42b
20:57599787 TUBB1 T>C	20	57599787	57599787	T	C	TUBB1	c.1305T>C	NM_030773.3	NP_110400.1:p.(Asp435=)	NC_000020.10:g.57599787T>C	(Likely) benign	1 lab	5b106e82e4
10:78734472 KCNMA1 T>C	10	78734472	78734472	T	C	KCNMA1	c.2105-4647A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78734472T>C	(Likely) benign	1 lab	5b10a7f3c9
9:6594942 GLDC C>T	9	6594942	6594942	C	T	GLDC	c.1261+72G>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6594942C>T	(Likely) benign	1 lab	5de564aed8
3:64590014 ADAMTS9 G>A	3	64590014	64590014	G	A	ADAMTS9	c.3475-7C>T	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64590014G>A	(Likely) benign	1 lab	5b26b6dda2
2:113888724 IL1RN T>C	2	113888724	113888724	T	C	IL1RN	c.206T>C	NM_173843.3	NP_776215.1:p.(Leu69Pro)	NC_000002.11:g.113888724T>C	VUS	1 lab	5b28529f4a
20:33045256 ITCH A>G	20	33045256	33045256	A	G	ITCH				NC_000020.10:g.33045256A>G	(Likely) benign	1 lab	5b2b1a27bd
18:34340696 FHOD3 G>C	18	34340696	34340696	G	C	FHOD3	c.4575G>C	NM_001281740.3	NP_001268669.1:p.(Glu1525Asp)	NC_000018.9:g.34340696G>C	VUS	1 lab	5b2cd0708b
X:64936771 MSN G>C	X	64936771	64936771	G	C	MSN	c.96+8G>C	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64936771G>C	(Likely) benign	1 lab	5b47a4acac
21:47420565 COL6A1 AGGAGGGCGGCCGGGGAG>A	21	47420565	47420583	AGGAGGGCGGCCGGGGAG	A	COL6A1	c.1814-106_1814-90del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47420567_47420583del	(Likely) benign	1 lab	5b2e74c950
18:59780424 PIGN A>G	18	59780424	59780424	A	G	PIGN	c.1377T>C	NM_176787.4	NP_789744.1:p.(Ser459=)	NC_000018.9:g.59780424A>G	(Likely) benign	1 lab	5b2f24b629
15:35084722 ACTC1 T>C	15	35084722	35084722	T	C	ACTC1	c.503A>G	NM_005159.4	NP_005150.1:p.(Tyr168Cys)	NC_000015.9:g.35084722T>C	(Likely) pathogenic	1 lab	5b319a342c
17:40467795 STAT3 A>G	17	40467795	40467795	A	G	STAT3	c.2281T>C	NM_139276.2	NP_644805.1:p.(Leu761=)	NC_000017.10:g.40467795A>G	(Likely) benign	1 lab	5b336fac69
12:7053021 RNU7-1 G>GT	12	7053021	7053022	G	GT	RNU7-1	n.43_44insT	NR_023317.1		NC_000012.11:g.7053021_7053022insT	(Likely) benign	1 lab	cfdf316904
2:166892444 SCN1A TAAAA>T	2	166892444	166892459	TAAAA	T	SCN1A	c.3429+110_3429+113del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166892456_166892459del	(Likely) benign	1 lab	5b37290605
21:35174759 ITSN1 CCTAA>C	21	35174759	35174765	CCTAA	C	ITSN1	c.2319+14_2319+17del	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35174762_35174765del	(Likely) benign	1 lab	5b37f52a00
12:132425830 PUS1 C>T	12	132425830	132425830	C	T	PUS1	c.545-7C>T	NM_025215.6	NP_079491.2:p.?	NC_000012.11:g.132425830C>T	(Likely) benign	1 lab	5b3d7debca
17:41059607 G6PC C>T	17	41059607	41059607	C	T	G6PC				NC_000017.10:g.41059607C>T	(Likely) benign	1 lab	5fe027bcd3
2:179616728 TTN C>T	2	179616728	179616728	C	T	TTN	c.10399G>A	NM_133379.4	NP_596870.2:p.(Asp3467Asn)	NC_000002.11:g.179616728C>T	VUS	1 lab	5b4cdb89fc
8:100589704 VPS13B C>T	8	100589704	100589704	C	T	VPS13B	c.5152-14C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100589704C>T	(Likely) benign	1 lab	5b4e11bd51
9:6589230 GLDC C>G	9	6589230	6589230	C	G	GLDC	c.1545G>C	NM_000170.2	NP_000161.2:p.(Arg515Ser)	NC_000009.11:g.6589230C>G	(Likely) pathogenic	1 lab	5b4fb94e6b
2:189974973 COL5A2 A>T	2	189974973	189974973	A	T	COL5A2	c.300T>A	NM_000393.5	NP_000384.2:p.(Pro100=)	NC_000002.11:g.189974973A>T	VUS	1 lab	5b5065d3d8
12:15731724 PTPRO T>TG	12	15731724	15731725	T	TG	PTPRO	c.2830-63_2830-62insG	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15731724_15731725insG	(Likely) benign	1 lab	5b53c7b4b8
7:128481259 FLNC G>A	7	128481259	128481259	G	A	FLNC	c.1849G>A	NM_001458.4	NP_001449.3:p.(Glu617Lys)	NC_000007.13:g.128481259G>A	VUS	1 lab	5b545d1382
X:41414858 CASK G>A	X	41414858	41414858	G	A	CASK	c.1837C>T	NM_003688.3	NP_003679.2:p.(Arg613Ter)	NC_000023.10:g.41414858G>A	(Likely) pathogenic	1 lab	5b59005d1e
1:234743081 IRF2BP2 C>T	1	234743081	234743081	C	T	IRF2BP2	c.1566G>A	NM_182972.2	NP_892017.2:p.(Pro522=)	NC_000001.10:g.234743081C>T	(Likely) benign	1 lab	5b5bbd9e1f
10:96361277 HELLS T>C	10	96361277	96361277	T	C	HELLS	c.2423-8T>C	NM_018063.5	NP_060533.2:p.?	NC_000010.10:g.96361277T>C	(Likely) benign	1 lab	5b5bebe7ec
18:28611139 DSC3 A>C	18	28611139	28611139	A	C	DSC3	c.155-1T>G	NM_024423.4	NP_077741.2:p.?	NC_000018.9:g.28611139A>C	(Likely) benign	1 lab	cfe1de64b2
1:116311141 CASQ2 T>A	1	116311141	116311141	T	A	CASQ2	c.22A>T	NM_001232.3	NP_001223.2:p.(Ile8Phe)	NC_000001.10:g.116311141T>A	(Likely) benign	1 lab	5b5e8e46c9
14:29237046 FOXG1 C>G	14	29237046	29237046	C	G	FOXG1	c.561C>G	NM_005249.5	NP_005240.3:p.(Asn187Lys)	NC_000014.8:g.29237046C>G	(Likely) pathogenic	1 lab	5b624acf1c
17:56787332 RAD51C CA>C	17	56787332	56787335	CA	C	RAD51C	c.821del	NM_058216.3	NP_478123.1:p.(Asn274IlefsTer5)	NC_000017.10:g.56787335del	(Likely) pathogenic	1 lab	5b6259801f
17:41228364 BRCA1 G>T	17	41228364	41228364	G	T	BRCA1	c.4484+141C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228364G>T	(Likely) benign	1 lab	5b65fcd499
6:70944600 COL9A1 C>G	6	70944600	70944600	C	G	COL9A1	c.2156G>C	NM_001851.5	NP_001842.3:p.(Ser719Thr)	NC_000006.11:g.70944600C>G	VUS	1 lab	5b6637150f
3:81627223 GBE1 C>T	3	81627223	81627223	C	T	GBE1	c.1471G>A	NM_000158.4	NP_000149.4:p.(Ala491Thr)	NC_000003.11:g.81627223C>T	VUS	1 lab	cfe3623fa9
5:89990634 ADGRV1 G>A	5	89990634	89990634	G	A	ADGRV1	c.7945+116G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89990634G>A	(Likely) benign	1 lab	5b6a8a9249
7:130042697 CEP41 C>T	7	130042697	130042697	C	T	CEP41	c.423-57G>A	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130042697C>T	(Likely) benign	1 lab	5b6bed8457
1:196658540 CFH T>A	1	196658540	196658540	T	A	CFH	c.965-10T>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196658540T>A	(Likely) benign	1 lab	5b70672f64
20:62560746 DNAJC5 G>A	20	62560746	62560746	G	A	DNAJC5	c.189G>A	NM_025219.3	NP_079495.1:p.(Ala63=)	NC_000020.10:g.62560746G>A	(Likely) benign	1 lab	5b789dff8f
10:16870912 CUBN G>A	10	16870912	16870912	G	A	CUBN	c.10656C>T	NM_001081.3	NP_001072.2:p.(Asn3552=)	NC_000010.10:g.16870912G>A	(Likely) benign	1 lab	5b79bc8757
7:73470642 ELN G>C	7	73470642	73470642	G	C	ELN	c.1192G>C	NM_001278939.1	NP_001265868.1:p.(Gly398Arg)	NC_000007.13:g.73470642G>C	VUS	1 lab	5b7a9cc8d5
11:112025712 IL18 G>A	11	112025712	112025712	G	A	IL18	c.65C>T	NM_001562.4	NP_001553.1:p.(Thr22Met)	NC_000011.9:g.112025712G>A	VUS	1 lab	5b830b4544
12:110028626 MVK C>T	12	110028626	110028626	C	T	MVK	c.728C>T	NM_000431.2	NP_000422.1:p.(Thr243Ile)	NC_000012.11:g.110028626C>T	(Likely) pathogenic	1 lab	5b88b55a68
16:1260666 CACNA1H G>T	16	1260666	1260666	G	T	CACNA1H	c.4038+15G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260666G>T	(Likely) benign	1 lab	5b8a3dedec
1:235600590 TBCE G>A	1	235600590	235600590	G	A	TBCE	c.964-47G>A	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235600590G>A	(Likely) benign	1 lab	5b8abc5724
14:23588124 CEBPE G>C	14	23588124	23588124	G	C	CEBPE				NC_000014.8:g.23588124G>C	(Likely) benign	1 lab	5b8ee3907c
17:73738664 ITGB4 C>T	17	73738664	73738664	C	T	ITGB4	c.2784C>T	NM_000213.5	NP_000204.3:p.(Asp928=)	NC_000017.10:g.73738664C>T	(Likely) benign	1 lab	5b90a05f8a
22:51150076 SHANK3 C>T	22	51150076	51150076	C	T	SHANK3	c.2359+10C>T	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51150076C>T	(Likely) benign	1 lab	5b925a8c6a
16:2547803 TBC1D24 T>G	16	2547803	2547803	T	G	TBC1D24	c.983+75T>G	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547803T>G	(Likely) benign	1 lab	5b9b21dab2
2:179419730 TTN GTGCA>G	2	179419730	179419735	GTGCA	G	TTN	c.88452_88455del	NM_001267550.2	NP_001254479.2:p.(Ala29485TrpfsTer28)	NC_000002.11:g.179419732_179419735del	(Likely) pathogenic	1 lab	5b9b7f6b67
14:65266521 SPTB G>A	14	65266521	65266521	G	A	SPTB	c.1008C>T	NM_001355436.2	NP_001342365.1:p.(Gly336=)	NC_000014.8:g.65266521G>A	(Likely) benign	1 lab	5b9dede136
16:3652147 SLX4 C>T	16	3652147	3652147	C	T	SLX4	c.922G>A	NM_032444.2	NP_115820.2:p.(Val308Met)	NC_000016.9:g.3652147C>T	(Likely) benign	1 lab	5b9fb75823
15:41346225 INO80 G>A	15	41346225	41346225	G	A	INO80	c.2189-13C>T	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41346225G>A	(Likely) benign	1 lab	5b9fbb3cd6
12:6443111 TNFRSF1A G>A	12	6443111	6443111	G	A	TNFRSF1A	c.194-80C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6443111G>A	(Likely) benign	1 lab	5ba54a64b3
1:158637865 SPTA1 GAAA>G	1	158637865	158637881	GAAA	G	SPTA1	c.1834-16_1834-14del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158637879_158637881del	(Likely) benign	1 lab	5ba79bc1be
5:14665097 OTULIN GGGGGCGC>G	5	14665097	14665114	GGGGGCGC	G	OTULIN	c.152+22_152+28del	NM_138348.6	NP_612357.4:p.?	NC_000005.9:g.14665108_14665114del	(Likely) benign	1 lab	5ba936a9ed
10:27454111 MASTL A>T	10	27454111	27454111	A	T	MASTL	c.660+12A>T	NM_001172303.3	NP_001165774.1:p.?	NC_000010.10:g.27454111A>T	(Likely) benign	1 lab	cfe77c0d66
9:14747362 FREM1 T>C	9	14747362	14747362	T	C	FREM1	c.5909A>G	NM_144966.5	NP_659403.4:p.(Lys1970Arg)	NC_000009.11:g.14747362T>C	(Likely) benign	1 lab	5bad1b4788
17:78086471 GAA G>A	17	78086471	78086471	G	A	GAA	c.1849G>A	NM_000152.3	NP_000143.2:p.(Val617Met)	NC_000017.10:g.78086471G>A	VUS	1 lab	5bb17666ff
22:41305124 XPNPEP3 A>G	22	41305124	41305124	A	G	XPNPEP3	c.856-2A>G	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41305124A>G	VUS	1 lab	5bb56aab95
7:150648073 KCNH2 C>T	7	150648073	150648073	C	T	KCNH2	c.2081G>A	NM_000238.3	NP_000229.1:p.(Arg694His)	NC_000007.13:g.150648073C>T	(Likely) pathogenic	1 lab	5bb897b292
20:21687470 PAX1 C>T	20	21687470	21687470	C	T	PAX1	c.681C>T	NM_006192.5	NP_006183.2:p.(Ser227=)	NC_000020.10:g.21687470C>T	(Likely) benign	1 lab	5bb917482f
13:49033844 RB1 C>T	13	49033844	49033844	C	T	RB1	c.1981C>T	NM_000321.3	NP_000312.2:p.(Arg661Trp)	NC_000013.10:g.49033844C>T	(Likely) pathogenic	1 lab	cfe87b099f
12:52308263 ACVRL1 C>T	12	52308263	52308263	C	T	ACVRL1	c.666C>T	NM_000020.2	NP_000011.2:p.(His222=)	NC_000012.11:g.52308263C>T	VUS	1 lab	5bbd24841d
5:90086702 ADGRV1 T>A	5	90086702	90086702	T	A	ADGRV1	c.14056T>A	NM_032119.4	NP_115495.3:p.(Leu4686Ile)	NC_000005.9:g.90086702T>A	(Likely) benign	1 lab	5bbd7b8f32
17:33504148 UNC45B G>A	17	33504148	33504148	G	A	UNC45B	c.2138G>A	NM_001033576.2	NP_001028748.1:p.(Arg713Gln)	NC_000017.10:g.33504148G>A	(Likely) benign	1 lab	5bc19e1e97
2:145153944 ZEB2 G>C	2	145153944	145153944	G	C	ZEB2	c.3067+35C>G	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145153944G>C	(Likely) benign	1 lab	5bc30c1cca
16:86601629 FOXC2 A>G	16	86601629	86601629	A	G	FOXC2	c.688A>G	NM_005251.3	NP_005242.1:p.(Thr230Ala)	NC_000016.9:g.86601629A>G	(Likely) benign	1 lab	5bc3261a58
1:241675119 FH G>C	1	241675119	241675119	G	C	FH	c.555+148C>G	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241675119G>C	(Likely) benign	1 lab	5bc3a2d646
17:41256098 BRCA1 G>GA	17	41256098	41256102	G	GA	BRCA1	c.441+40dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256102dup	(Likely) benign	1 lab	5bc4e9196a
2:73650055 ALMS1 G>A	2	73650055	73650055	G	A	ALMS1	c.720G>A	NM_015120.4	NP_055935.4:p.(Ala240=)	NC_000002.11:g.73650055G>A	(Likely) benign	1 lab	5bc79935b7
9:124088817 GSN G>A	9	124088817	124088817	G	A	GSN	c.1597G>A	NM_000177.5	NP_000168.1:p.(Ala533Thr)	NC_000009.11:g.124088817G>A	(Likely) benign	1 lab	cfea1c24d4
16:27761545 KATNIP C>T	16	27761545	27761545	C	T	KATNIP	c.3264C>T	NM_015202.3	NP_056017.3:p.(Gly1088=)	NC_000016.9:g.27761545C>T	(Likely) benign	1 lab	5bcbd9a991
21:34660625 IL10RB T>C	21	34660625	34660625	T	C	IL10RB				NC_000021.8:g.34660625T>C	(Likely) benign	1 lab	5bcca47c01
16:81914518 PLCG2 C>A	16	81914518	81914518	C	A	PLCG2	c.652C>A	NM_002661.3	NP_002652.2:p.(Leu218Ile)	NC_000016.9:g.81914518C>A	(Likely) benign	1 lab	5bcea7d6e6
10:68535286 CTNNA3 C>A	10	68535286	68535286	C	A	CTNNA3	c.1048-4G>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535286C>A	(Likely) benign	1 lab	5bcfe048a3
8:133196686 KCNQ3 C>A	8	133196686	133196686	C	A	KCNQ3	c.478-72G>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133196686C>A	(Likely) benign	1 lab	5bd44e3b07
6:31928238 SKIC2 T>C	6	31928238	31928238	T	C	SKIC2	c.384T>C	NM_006929.5	NP_008860.4:p.(Ala128=)	NC_000006.11:g.31928238T>C	(Likely) benign	1 lab	5bd664e04d
13:32950799 BRCA2 T>C	13	32950799	32950799	T	C	BRCA2	c.8633-8T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950799T>C	(Likely) benign	1 lab	5bd72e6b53
2:204821425 ICOS A>T	2	204821425	204821425	A	T	ICOS	c.438A>T	NM_012092.3	NP_036224.1:p.(Gly146=)	NC_000002.11:g.204821425A>T	(Likely) benign	1 lab	5bd994c153
19:3979372 EEF2 G>T	19	3979372	3979372	G	T	EEF2	c.1668C>A	NM_001961.4	NP_001952.1:p.(Ile556=)	NC_000019.9:g.3979372G>T	(Likely) benign	1 lab	5bdbdb9335
15:89876827 POLG TTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGC	T	POLG	c.147_158del	NM_002693.3	NP_002684.1:p.(Gln52_Gln55del)	NC_000015.9:g.89876849_89876860del	(Likely) benign	1 lab	cfebdd84fd
11:36596041 RAG1 G>A	11	36596041	36596041	G	A	RAG1	c.1187G>A	NM_000448.2	NP_000439.1:p.(Arg396His)	NC_000011.9:g.36596041G>A	(Likely) pathogenic	1 lab	5bf07cf0fb
6:31962904 C4A A>C	6	31962904	31962904	A	C	C4A	c.2877A>C	NM_007293.2	NP_009224.2:p.(Glu959Asp)	NC_000006.11:g.31962904A>C	(Likely) benign	1 lab	5bf3d2d0b5
1:228524756 OBSCN T>C	1	228524756	228524756	T	C	OBSCN	c.19460T>C	NM_001271223.2	NP_001258152.2:p.(Val6487Ala)	NC_000001.10:g.228524756T>C	(Likely) benign	1 lab	5bf7b14cc8
9:14784389 FREM1 G>A	9	14784389	14784389	G	A	FREM1	c.4421C>T	NM_144966.5	NP_659403.4:p.(Thr1474Ile)	NC_000009.11:g.14784389G>A	(Likely) benign	1 lab	5bf9ef06b5
3:53531402 CACNA1D G>T	3	53531402	53531402	G	T	CACNA1D	c.291G>T	NM_000720.4	NP_000711.1:p.(Ser97=)	NC_000003.11:g.53531402G>T	(Likely) benign	1 lab	5c0663a07d
5:176943914 DDX41 T>TCCTA	5	176943914	176943921	T	TCCTA	DDX41	c.27+2_27+5dup	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176943918_176943921dup	(Likely) benign	1 lab	5c070f335b
21:34805197 IFNGR2 C>T	21	34805197	34805197	C	T	IFNGR2	c.879+19C>T	NM_005534.3	NP_005525.2:p.?	NC_000021.8:g.34805197C>T	(Likely) benign	1 lab	5c08702f50
2:128046255 ERCC3 C>T	2	128046255	128046255	C	T	ERCC3	c.816G>A	NM_001303418.2	NP_001290347.1:p.(Gly272=)	NC_000002.11:g.128046255C>T	(Likely) benign	1 lab	5c08a01353
10:95994012 PLCE1 C>T	10	95994012	95994012	C	T	PLCE1	c.2157C>T	NM_016341.3	NP_057425.3:p.(Gly719=)	NC_000010.10:g.95994012C>T	(Likely) benign	1 lab	5c10b1ddd6
5:36952120 NIPBL C>CTGTG	5	36952120	36952156	C	CTGTG	NIPBL	c.-79-1567_-79-1564dup	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.36952153_36952156dup	(Likely) benign	1 lab	5c128f82af
3:121516299 IQCB1 TAA>T	3	121516299	121516312	TAA	T	IQCB1	c.767-227_767-226del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121516311_121516312del	(Likely) benign	1 lab	5c22355464
12:80192362 PPP1R12A G>T	12	80192362	80192362	G	T	PPP1R12A	c.2003C>A	NM_001244990.2	NP_001231919.1:p.(Ser668Ter)	NC_000012.11:g.80192362G>T	(Likely) pathogenic	1 lab	cff0226a5f
4:123541982 IL21 G>C	4	123541982	123541982	G	C	IL21	c.168+17C>G	NM_021803.4	NP_068575.1:p.?	NC_000004.11:g.123541982G>C	(Likely) benign	1 lab	5c28ddca69
20:62038077 KCNQ2 T>G	20	62038077	62038077	T	G	KCNQ2	c.2539A>C	NM_172107.4	NP_742105.1:p.(Thr847Pro)	NC_000020.10:g.62038077T>G	(Likely) benign	1 lab	cff8c4b039
10:21158728 NEBL C>T	10	21158728	21158728	C	T	NEBL	c.523G>A	NM_006393.2	NP_006384.1:p.(Ala175Thr)	NC_000010.10:g.21158728C>T	(Likely) benign	1 lab	5c2c6ef2f3
6:102483202 GRIK2 T>C	6	102483202	102483202	T	C	GRIK2	c.2086-14T>C	NM_021956.4	NP_068775.1:p.?	NC_000006.11:g.102483202T>C	(Likely) benign	1 lab	5c2f644c88
22:32151033 DEPDC5 A>G	22	32151033	32151033	A	G	DEPDC5	c.58+68A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32151033A>G	(Likely) benign	1 lab	5c2f721fa3
9:138677136 KCNT1 T>G	9	138677136	138677136	T	G	KCNT1	c.3157-20T>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677136T>G	(Likely) benign	1 lab	5c2f9f53d7
1:154540468 CHRNB2 C>T	1	154540468	154540468	C	T	CHRNB2	c.-53C>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154540468C>T	(Likely) benign	1 lab	5c30dbd877
6:32946119 BRD2 G>C	6	32946119	32946119	G	C	BRD2	c.1795G>C	NM_001199455.1	NP_001186384.1:p.(Ala599Pro)	NC_000006.11:g.32946119G>C	(Likely) benign	1 lab	5c32e13c6c
19:17756616 UNC13A G>A	19	17756616	17756616	G	A	UNC13A	c.2223C>T	NM_001080421.3	NP_001073890.2:p.(Arg741=)	NC_000019.9:g.17756616G>A	(Likely) benign	1 lab	cff904dd4f
2:149227766 MBD5 A>G	2	149227766	149227766	A	G	MBD5	c.2254A>G	NM_018328.4	NP_060798.2:p.(Ile752Val)	NC_000002.11:g.149227766A>G	(Likely) benign	1 lab	5c3dd94423
19:39219686 ACTN4 C>T	19	39219686	39219686	C	T	ACTN4	c.2469C>T	NM_004924.6	NP_004915.2:p.(Ser823=)	NC_000019.9:g.39219686C>T	(Likely) benign	1 lab	5c422f72d6
1:16045087 PLEKHM2 C>T	1	16045087	16045087	C	T	PLEKHM2	c.432C>T	NM_015164.4	NP_055979.2:p.(Ser144=)	NC_000001.10:g.16045087C>T	(Likely) benign	1 lab	5c43d9f7bb
14:64519228 SYNE2 C>T	14	64519228	64519228	C	T	SYNE2	c.8597C>T	NM_182914.2	NP_878918.2:p.(Thr2866Met)	NC_000014.8:g.64519228C>T	(Likely) benign	1 lab	5c447a103f
22:51063648 ARSA G>T	22	51063648	51063648	G	T	ARSA	c.1455C>A	NM_000487.6	NP_000478.3:p.(Pro485=)	NC_000022.10:g.51063648G>T	(Likely) benign	1 lab	5c4d2bf666
21:46311846 ITGB2 C>T	21	46311846	46311846	C	T	ITGB2	c.1290G>A	NM_000211.3	NP_000202.2:p.(Ala430=)	NC_000021.8:g.46311846C>T	(Likely) benign	1 lab	5c4db81105
14:23898303 MYH7 G>A	14	23898303	23898303	G	A	MYH7	c.1268C>T	NM_000257.2	NP_000248.2:p.(Ala423Val)	NC_000014.8:g.23898303G>A	VUS	1 lab	5c4e72bab0
16:3306323 MEFV C>T	16	3306323	3306323	C	T	MEFV	c.265G>A	NM_000243.2	NP_000234.1:p.(Ala89Thr)	NC_000016.9:g.3306323C>T	VUS	1 lab	5c4ed6905a
14:89343669 TTC8 C>T	14	89343669	89343669	C	T	TTC8	c.1463C>T	NM_144596.3	NP_653197.2:p.(Ala488Val)	NC_000014.8:g.89343669C>T	(Likely) benign	1 lab	5c4f0d8807
19:11280919 KANK2 TC>T	19	11280919	11280921	TC	T	KANK2	c.2216del	NM_001136191.3	NP_001129663.1:p.(Gly739AspfsTer5)	NC_000019.9:g.11280921del	(Likely) pathogenic	1 lab	5c5a1460cc
11:118221349 CD3G T>C	11	118221349	118221349	T	C	CD3G	c.390T>C	NM_000073.2	NP_000064.1:p.(Ala130=)	NC_000011.9:g.118221349T>C	(Likely) benign	1 lab	5c5d203a6a
1:46661468 POMGNT1 G>A	1	46661468	46661468	G	A	POMGNT1	c.534+15C>T	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46661468G>A	(Likely) benign	1 lab	5c5e7222d5
3:58186769 DNASE1L3 C>T	3	58186769	58186769	C	T	DNASE1L3	c.501G>A	NM_004944.4	NP_004935.1:p.(Glu167=)	NC_000003.11:g.58186769C>T	(Likely) benign	1 lab	5c60c6cbba
1:204125093 REN C>T	1	204125093	204125093	C	T	REN	c.961-47G>A	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204125093C>T	(Likely) benign	1 lab	5c65671d7a
16:89351692 ANKRD11 C>T	16	89351692	89351692	C	T	ANKRD11	c.1258G>A	NM_001256182.2	NP_001243111.1:p.(Val420Met)	NC_000016.9:g.89351692C>T	(Likely) benign	1 lab	5c6d6d8065
5:90078821 ADGRV1 A>G	5	90078821	90078821	A	G	ADGRV1	c.13232-120A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90078821A>G	(Likely) benign	1 lab	5c6fe800c5
17:45008286 GOSR2 A>G	17	45008286	45008286	A	G	GOSR2	c.95-179A>G	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45008286A>G	(Likely) benign	1 lab	5c72d49444
4:57356558 SRP72 T>C	4	57356558	57356558	T	C	SRP72	c.1380T>C	NM_006947.4	NP_008878.3:p.(Tyr460=)	NC_000004.11:g.57356558T>C	(Likely) benign	1 lab	5c7452a471
7:138447812 ATP6V0A4 T>C	7	138447812	138447812	T	C	ATP6V0A4	c.292-42A>G	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138447812T>C	(Likely) benign	1 lab	5c7698f180
20:8113405 PLCB1 T>C	20	8113405	8113405	T	C	PLCB1	c.99+8T>C	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8113405T>C	(Likely) benign	1 lab	5c7c630a87
11:108203484 ATM A>T	11	108203484	108203484	A	T	ATM	c.7789-5A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108203484A>T	(Likely) benign	1 lab	5c87e8c27e
16:3304305 MEFV C>CGGCG	16	3304305	3304308	C	CGGCG	MEFV	c.762_763insCGCC	NM_000243.2	NP_000234.1:p.(Ala255ArgfsTer71)	NC_000016.9:g.3304307_3304308insCGGG	(Likely) pathogenic	1 lab	5c88868b27
6:135606755 AHI1 C>G	6	135606755	135606755	C	G	AHI1	c.*28G>C	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135606755C>G	(Likely) benign	1 lab	5c88c983ed
16:3304563 MEFV G>C	16	3304563	3304563	G	C	MEFV	c.505C>G	NM_000243.2	NP_000234.1:p.(Leu169Val)	NC_000016.9:g.3304563G>C	VUS	1 lab	5d018a1cc2
4:151850226 LRBA G>GAA	4	151850226	151850238	G	GAA	LRBA	c.217-11_217-10dup	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151850237_151850238dup	(Likely) benign	1 lab	5c8db3d04c
16:29000867 LAT C>T	16	29000867	29000867	C	T	LAT	c.513C>T	NM_001014987.2	NP_001014987.1:p.(Tyr171=)	NC_000016.9:g.29000867C>T	(Likely) benign	1 lab	5c91c1960d
1:154378156 IL6R A>G	1	154378156	154378156	A	G	IL6R	c.51A>G	NM_000565.4	NP_000556.1:p.(Gly17=)	NC_000001.10:g.154378156A>G	(Likely) benign	1 lab	5c95a87495
2:216253020 FN1 G>A	2	216253020	216253020	G	A	FN1	c.4257C>T	NM_212482.2	NP_997647.1:p.(Leu1419=)	NC_000002.11:g.216253020G>A	(Likely) benign	1 lab	5c95e2e9fd
2:217293383 SMARCAL1 G>A	2	217293383	217293383	G	A	SMARCAL1	c.1212G>A	NM_014140.3	NP_054859.2:p.(Ala404=)	NC_000002.11:g.217293383G>A	(Likely) benign	1 lab	5c9a9316d1
5:90059099 ADGRV1 CT>C	5	90059099	90059101	CT	C	ADGRV1	c.12121-21del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059101del	(Likely) benign	1 lab	5c9b6307ae
X:22094504 PHEX A>G	X	22094504	22094504	A	G	PHEX	c.350-2A>G	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22094504A>G	(Likely) pathogenic	1 lab	cffb507a1d
4:39267745 WDR19 C>T	4	39267745	39267745	C	T	WDR19	c.3246C>T	NM_025132.4	NP_079408.3:p.(Asn1082=)	NC_000004.11:g.39267745C>T	(Likely) benign	1 lab	5ca45653b0
X:135741472 CD40LG A>G	X	135741472	135741472	A	G	CD40LG	c.684A>G	NM_000074.2	NP_000065.1:p.(Val228=)	NC_000023.10:g.135741472A>G	(Likely) benign	1 lab	5ca73a88de
16:3299525 MEFV T>A	16	3299525	3299525	T	A	MEFV	c.1166A>T	NM_000243.2	NP_000234.1:p.(Asp389Val)	NC_000016.9:g.3299525T>A	VUS	1 lab	5ca80f0edc
2:31591494 XDH C>T	2	31591494	31591494	C	T	XDH	c.2013G>A	NM_000379.4	NP_000370.2:p.(Val671=)	NC_000002.11:g.31591494C>T	(Likely) benign	1 lab	5caa1fbbec
8:86386051 CA2 C>CT	8	86386051	86386061	C	CT	CA2	c.351+21dup	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86386061dup	(Likely) benign	1 lab	5cabc6d029
16:69727480 NFAT5 A>G	16	69727480	69727480	A	G	NFAT5	c.3470A>G	NM_138714.4	NP_619728.2:p.(Gln1157Arg)	NC_000016.9:g.69727480A>G	(Likely) benign	1 lab	5cadc7fcc5
9:93636569 SYK C>G	9	93636569	93636569	C	G	SYK	c.999C>G	NM_003177.7	NP_003168.2:p.(Asp333Glu)	NC_000009.11:g.93636569C>G	(Likely) benign	1 lab	5cb6d798d6
17:41223201 BRCA1 GA>G	17	41223201	41223202	GA	G	BRCA1	c.4729del	NM_007294.4	NP_009225.1:p.(Ser1577LeufsTer24)	NC_000017.10:g.41223202del	(Likely) pathogenic	1 lab	cffd86b82d
5:125904304 ALDH7A1 G>C	5	125904304	125904304	G	C	ALDH7A1	c.774-256C>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125904304G>C	(Likely) benign	1 lab	5cc079b955
3:64606840 ADAMTS9 C>G	3	64606840	64606840	C	G	ADAMTS9	c.2763G>C	NM_182920.2	NP_891550.1:p.(Leu921=)	NC_000003.11:g.64606840C>G	(Likely) benign	1 lab	5cc17fff6e
2:109365537 RANBP2 A>G	2	109365537	109365537	A	G	RANBP2	c.1225A>G	NM_006267.4	NP_006258.3:p.(Ile409Val)	NC_000002.11:g.109365537A>G	(Likely) benign	1 lab	5cc24dd127
16:23392069 SCNN1B C>T	16	23392069	23392069	C	T	SCNN1B	c.1870C>T	NM_000336.3	NP_000327.2:p.(Arg624Cys)	NC_000016.9:g.23392069C>T	VUS	1 lab	5cc6112201
14:23588067 CEBPE G>A	14	23588067	23588067	G	A	CEBPE				NC_000014.8:g.23588067G>A	(Likely) benign	1 lab	5cc64a1505
12:56568534 SMARCC2 C>G	12	56568534	56568534	C	G	SMARCC2	c.1397G>C	NM_001330288.2	NP_001317217.1:p.(Arg466Pro)	NC_000012.11:g.56568534C>G	(Likely) pathogenic	1 lab	5cca2fcc80
19:7706754 STXBP2 CAG>C	19	7706754	7706756	CAG	C	STXBP2	c.578+16_578+17del	NM_006949.4	NP_008880.2:p.?	NC_000019.9:g.7706755_7706756del	(Likely) benign	1 lab	5cde20afe6
7:156798554 MNX1 A>G	7	156798554	156798554	A	G	MNX1	c.866T>C	NM_005515.4	NP_005506.3:p.(Phe289Ser)	NC_000007.13:g.156798554A>G	(Likely) pathogenic	1 lab	5cde38e3e7
6:33653220 ITPR3 C>G	6	33653220	33653220	C	G	ITPR3	c.5392C>G	NM_002224.4	NP_002215.2:p.(Gln1798Glu)	NC_000006.11:g.33653220C>G	VUS	1 lab	d00301e5ba
10:50724016 ERCC6 C>T	10	50724016	50724016	C	T	ERCC6	c.1397+8063G>A	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50724016C>T	(Likely) benign	1 lab	d007ad6457
9:32493888 RIGI T>C	9	32493888	32493888	T	C	RIGI	c.294A>G	NM_014314.4	NP_055129.2:p.(Glu98=)	NC_000009.11:g.32493888T>C	(Likely) benign	1 lab	5ce3c7d4bb
X:154227751 F8 T>C	X	154227751	154227751	T	C	F8	c.265+3A>G	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154227751T>C	VUS	1 lab	5ceed04644
6:110081431 FIG4 A>G	6	110081431	110081431	A	G	FIG4	c.1138-22A>G	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110081431A>G	(Likely) benign	1 lab	5cf247629f
1:235940405 LYST G>A	1	235940405	235940405	G	A	LYST	c.5418C>T	NM_000081.3	NP_000072.2:p.(His1806=)	NC_000001.10:g.235940405G>A	(Likely) benign	1 lab	5cf3b454f9
22:50886853 SBF1 A>C	22	50886853	50886853	A	C	SBF1	c.5172T>G	NM_002972.4	NP_002963.2:p.(Leu1724=)	NC_000022.10:g.50886853A>C	(Likely) benign	1 lab	5cf772fd30
1:16059087 PLEKHM2 G>C	1	16059087	16059087	G	C	PLEKHM2	c.2806-20G>C	NM_015164.4	NP_055979.2:p.?	NC_000001.10:g.16059087G>C	(Likely) benign	1 lab	5cf7dbbde1
4:5570188 EVC2 G>A	4	5570188	5570188	G	A	EVC2	c.3540C>T	NM_147127.5	NP_667338.3:p.(Ala1180=)	NC_000004.11:g.5570188G>A	(Likely) benign	1 lab	5cf847e0d2
1:247588054 NLRP3 A>G	1	247588054	247588054	A	G	NLRP3	c.1303A>G	NM_001243133.2	NP_001230062.1:p.(Lys435Glu)	NC_000001.10:g.247588054A>G	(Likely) pathogenic	1 lab	5cfa2096b4
12:49434516 KMT2D C>T	12	49434516	49434516	C	T	KMT2D	c.7037G>A	NM_003482.3	NP_003473.3:p.(Gly2346Asp)	NC_000012.11:g.49434516C>T	VUS	1 lab	5cfaa853ca
4:9892172 SLC2A9 G>A	4	9892172	9892172	G	A	SLC2A9	c.1215+62C>T	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9892172G>A	(Likely) benign	1 lab	5dc48848b4
1:207959122 CD46 CTTT>C	1	207959122	207959136	CTTT	C	CD46	c.1082+107_1082+109del	NM_172351.3	NP_758861.1:p.?	NC_000001.10:g.207959134_207959136del	(Likely) benign	1 lab	5cfcaefdad
18:19399522 MIB1 CT>C	18	19399522	19399526	CT	C	MIB1	c.1748del	NM_020774.4	NP_065825.1:p.(Leu583TrpfsTer23)	NC_000018.9:g.19399526del	(Likely) pathogenic	1 lab	d00cbd90dd
7:80300354 CD36 G>C	7	80300354	80300354	G	C	CD36	c.880G>C	NM_001001547.3	NP_001001547.1:p.(Val294Leu)	NC_000007.13:g.80300354G>C	(Likely) benign	1 lab	5d0446a53a
11:128709831 KCNJ1 A>T	11	128709831	128709831	A	T	KCNJ1	c.365T>A	NM_000220.6	NP_000211.1:p.(Val122Glu)	NC_000011.9:g.128709831A>T	(Likely) pathogenic	1 lab	5d09d00cfa
4:84185479 COQ2 C>T	4	84185479	84185479	C	T	COQ2	c.1139G>A	NM_015697.8	NP_056512.5:p.(Trp380Ter)	NC_000004.11:g.84185479C>T	(Likely) pathogenic	1 lab	5d10ae5bbb
15:59510290 MYO1E T>C	15	59510290	59510290	T	C	MYO1E	c.911-4A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59510290T>C	(Likely) benign	1 lab	5d1b93d64c
8:133144415 KCNQ3 G>A	8	133144415	133144415	G	A	KCNQ3	c.1884+12C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133144415G>A	(Likely) benign	1 lab	5d1d3a6853
4:501373 PIGG G>A	4	501373	501373	G	A	PIGG	c.750G>A	NM_001127178.3	NP_001120650.1:p.(Leu250=)	NC_000004.11:g.501373G>A	(Likely) benign	1 lab	5d26735dee
17:40556708 CAVIN1 G>A	17	40556708	40556708	G	A	CAVIN1	c.1170C>T	NM_012232.6	NP_036364.2:p.(Asp390=)	NC_000017.10:g.40556708G>A	(Likely) benign	1 lab	5d2eaefc9b
16:3304771 MEFV G>A	16	3304771	3304771	G	A	MEFV	c.297C>T	NM_000243.2	NP_000234.1:p.(Asn99=)	NC_000016.9:g.3304771G>A	(Likely) benign	1 lab	5d2fb90ed3
3:64526823 ADAMTS9 C>T	3	64526823	64526823	C	T	ADAMTS9	c.5469G>A	NM_182920.2	NP_891550.1:p.(Gly1823=)	NC_000003.11:g.64526823C>T	(Likely) benign	1 lab	5d303ee579
11:47370063 MYBPC3 A>G	11	47370063	47370063	A	G	MYBPC3	c.684T>C	NM_000256.3	NP_000247.2:p.(Asp228=)	NC_000011.9:g.47370063A>G	(Likely) benign	1 lab	5d33bda9c5
21:45750090 CFAP410 G>A	21	45750090	45750090	G	A	CFAP410	c.762C>T	NM_004928.3	NP_004919.1:p.(His254=)	NC_000021.8:g.45750090G>A	(Likely) benign	1 lab	5d3430ed44
17:37822016 TCAP A>G	17	37822016	37822016	A	G	TCAP	c.158A>G	NM_003673.3	NP_003664.1:p.(Gln53Arg)	NC_000017.10:g.37822016A>G	(Likely) benign	1 lab	5d34b9dd12
13:39263630 FREM2 C>T	13	39263630	39263630	C	T	FREM2	c.2149C>T	NM_207361.6	NP_997244.4:p.(Gln717Ter)	NC_000013.10:g.39263630C>T	(Likely) pathogenic	1 lab	5d3658ab5a
8:102644485 GRHL2 A>G	8	102644485	102644485	A	G	GRHL2	c.1377A>G	NM_024915.4	NP_079191.2:p.(Leu459=)	NC_000008.10:g.102644485A>G	(Likely) benign	1 lab	5d381dd91e
X:154130443 F8 C>A	X	154130443	154130443	C	A	F8	c.5999-1G>T	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154130443C>A	(Likely) pathogenic	1 lab	5d3b54e117
16:15850215 MYH11 T>C	16	15850215	15850215	T	C	MYH11	c.1753A>G	NM_001040113.2	NP_001035202.1:p.(Ile585Val)	NC_000016.9:g.15850215T>C	(Likely) benign	1 lab	5d3e04c5cf
4:79188161 FRAS1 G>A	4	79188161	79188161	G	A	FRAS1	c.789+72G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79188161G>A	(Likely) benign	1 lab	5d3eaab49e
16:2152830 PKD1 A>C	16	2152830	2152830	A	C	PKD1	c.8933T>G	NM_001009944.2	NP_001009944.2:p.(Phe2978Cys)	NC_000016.9:g.2152830A>C	(Likely) pathogenic	1 lab	5d4071405f
16:3293150 MEFV C>G	16	3293150	3293150	C	G	MEFV	c.2337G>C	NM_000243.2	NP_000234.1:p.(Gly779=)	NC_000016.9:g.3293150C>G	(Likely) benign	1 lab	5d479bc0d8
2:166909135 SCN1A A>C	2	166909135	166909135	A	C	SCN1A	c.694+227T>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909135A>C	(Likely) benign	1 lab	5d48da05d1
X:119676896 CUL4B GA>G	X	119676896	119676907	GA	G	CUL4B	c.1257-9del	NM_001079872.2	NP_001073341.1:p.?	NC_000023.10:g.119676907del	(Likely) benign	1 lab	5d4e65609b
12:15652479 PTPRO C>T	12	15652479	15652479	C	T	PTPRO	c.612C>T	NM_030667.3	NP_109592.1:p.(Thr204=)	NC_000012.11:g.15652479C>T	(Likely) benign	1 lab	5d55330558
12:103234255 PAH C>G	12	103234255	103234255	C	G	PAH	c.1238G>C	NM_000277.3	NP_000268.1:p.(Arg413Pro)	NC_000012.11:g.103234255C>G	VUS	1 lab	5d55b534c0
19:48715196 CARD8 T>C	19	48715196	48715196	T	C	CARD8	c.1235A>G	NM_014959.5	NP_055774.2:p.(Gln412Arg)	NC_000019.9:g.48715196T>C	(Likely) benign	1 lab	5d5b016a4e
13:32893361 BRCA2 A>G	13	32893361	32893361	A	G	BRCA2	c.215A>G	NM_000059.3	NP_000050.2:p.(Asn72Ser)	NC_000013.10:g.32893361A>G	(Likely) benign	1 lab	5d5df99dcb
X:107913414 COL4A5 T>A	X	107913414	107913414	T	A	COL4A5	c.3790+1680T>A	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107913414T>A	(Likely) benign	1 lab	5d627aa814
11:117869729 IL10RA C>T	11	117869729	117869729	C	T	IL10RA	c.1110C>T	NM_001558.3	NP_001549.2:p.(Ser370=)	NC_000011.9:g.117869729C>T	(Likely) benign	1 lab	5d66b9255d
2:73613086 ALMS1 A>AGCG	2	73613086	73613101	A	AGCG	ALMS1	c.106_108dup	NM_015120.4	NP_055935.4:p.(Ala36dup)	NC_000002.11:g.73613099_73613101dup	(Likely) benign	1 lab	5d674098d9
9:137688238 COL5A1 G>A	9	137688238	137688238	G	A	COL5A1	c.2818G>A	NM_000093.4	NP_000084.3:p.(Gly940Ser)	NC_000009.11:g.137688238G>A	VUS	1 lab	5d676df860
16:56852644 NUP93 G>A	16	56852644	56852644	G	A	NUP93	c.558G>A	NM_014669.5	NP_055484.3:p.(Ala186=)	NC_000016.9:g.56852644G>A	(Likely) benign	1 lab	5d68deb54b
13:32912150 BRCA2 T>C	13	32912150	32912150	T	C	BRCA2	c.3658T>C	NM_000059.3	NP_000050.2:p.(Tyr1220His)	NC_000013.10:g.32912150T>C	VUS	1 lab	5d70ef11a9
6:47563608 CD2AP A>G	6	47563608	47563608	A	G	CD2AP	c.1120A>G	NM_012120.3	NP_036252.1:p.(Thr374Ala)	NC_000006.11:g.47563608A>G	(Likely) benign	1 lab	5d7143b439
1:196953264 CFHR5 A>C	1	196953264	196953264	A	C	CFHR5	c.427A>C	NM_030787.3	NP_110414.1:p.(Thr143Pro)	NC_000001.10:g.196953264A>C	(Likely) benign	1 lab	5d798ad897
21:34948130 SON G>A	21	34948130	34948130	G	A	SON	c.7152G>A	NM_138927.2	NP_620305.2:p.(Arg2384=)	NC_000021.8:g.34948130G>A	(Likely) benign	1 lab	5dabcf9b16
7:131191400 PODXL CCG>C	7	131191400	131191403	CCG	C	PODXL	c.1185_1186del	NM_001018111.3	NP_001018121.1:p.(Cys395TrpfsTer23)	NC_000007.13:g.131191402_131191403del	(Likely) pathogenic	1 lab	5d83880868
10:17024556 CUBN C>T	10	17024556	17024556	C	T	CUBN	c.4622G>A	NM_001081.3	NP_001072.2:p.(Arg1541Gln)	NC_000010.10:g.17024556C>T	(Likely) benign	1 lab	5d83a75173
18:29175120 TTR A>G	18	29175120	29175120	A	G	TTR	c.238A>G	NM_000371.4	NP_000362.1:p.(Thr80Ala)	NC_000018.9:g.29175120A>G	(Likely) pathogenic	1 lab	d00e5b85ec
5:169461398 DOCK2 C>T	5	169461398	169461398	C	T	DOCK2	c.3468-5C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169461398C>T	(Likely) benign	1 lab	5d8bca0285
18:10691246 PIEZO2 G>A	18	10691246	10691246	G	A	PIEZO2	c.6987C>T	NM_022068.3	NP_071351.2:p.(Tyr2329=)	NC_000018.9:g.10691246G>A	(Likely) benign	1 lab	5d92ef33d1
1:158626590 SPTA1 A>G	1	158626590	158626590	A	G	SPTA1	c.2806-144T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158626590A>G	(Likely) benign	1 lab	5d9d87eec9
17:5456820 NLRP1 T>C	17	5456820	5456820	T	C	NLRP1	c.2414A>G	NM_033004.4	NP_127497.1:p.(Lys805Arg)	NC_000017.10:g.5456820T>C	(Likely) benign	1 lab	5d9dc0a4b5
3:87303064 CHMP2B CA>C	3	87303064	87303078	CA	C	CHMP2B	c.*106del	NM_014043.4	NP_054762.2:p.?	NC_000003.11:g.87303078del	(Likely) benign	1 lab	5dac3f56f8
14:64457682 SYNE2 C>T	14	64457682	64457682	C	T	SYNE2	c.2495C>T	NM_182914.2	NP_878918.2:p.(Ala832Val)	NC_000014.8:g.64457682C>T	VUS	1 lab	5dacd0794a
15:83346938 AP3B2 A>C	15	83346938	83346938	A	C	AP3B2	c.1183-19T>G	NM_001278512.2	NP_001265441.1:p.?	NC_000015.9:g.83346938A>C	(Likely) benign	1 lab	5db0356287
20:61990948 CHRNA4 G>C	20	61990948	61990948	G	C	CHRNA4	c.180C>G	NM_000744.7	NP_000735.1:p.(Asp60Glu)	NC_000020.10:g.61990948G>C	VUS	1 lab	d00fb9664e
1:158648210 SPTA1 T>C	1	158648210	158648210	T	C	SPTA1	c.793A>G	NM_003126.3	NP_003117.2:p.(Asn265Asp)	NC_000001.10:g.158648210T>C	(Likely) benign	1 lab	5db8f6c275
12:111923455 ATXN2 G>A	12	111923455	111923455	G	A	ATXN2	c.2457+62C>T	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.111923455G>A	(Likely) benign	1 lab	5db957b3bf
5:161524941 GABRG2 A>T	5	161524941	161524941	A	T	GABRG2				NC_000005.9:g.161524941A>T	(Likely) benign	1 lab	5dbc55a0da
10:33215047 ITGB1 A>G	10	33215047	33215047	A	G	ITGB1	c.548-10T>C	NM_002211.4	NP_002202.2:p.?	NC_000010.10:g.33215047A>G	(Likely) benign	1 lab	5dbe697364
6:33652362 ITPR3 C>T	6	33652362	33652362	C	T	ITPR3	c.5047-13C>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33652362C>T	(Likely) benign	1 lab	5df33306da
14:65251229 SPTB AAG>A	14	65251229	65251234	AAG	A	SPTB	c.3856-120_3856-119del	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65251233_65251234del	(Likely) benign	1 lab	5dc306feaf
4:79442558 FRAS1 G>A	4	79442558	79442558	G	A	FRAS1	c.10541-119G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79442558G>A	(Likely) benign	1 lab	5dc8b949e4
22:32242699 DEPDC5 TC>T	22	32242699	32242701	TC	T	DEPDC5	c.3022-119del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32242701del	(Likely) benign	1 lab	5dc9a512db
20:31023138 ASXL1 A>G	20	31023138	31023138	A	G	ASXL1	c.2623A>G	NM_015338.5	NP_056153.2:p.(Met875Val)	NC_000020.10:g.31023138A>G	(Likely) benign	1 lab	5dca209c2a
20:61981362 CHRNA4 G>A	20	61981362	61981362	G	A	CHRNA4	c.1401C>T	NM_000744.6	NP_000735.1:p.(Ser467=)	NC_000020.10:g.61981362G>A	(Likely) benign	1 lab	5dccb0d53f
15:48902943 FBN1 A>G	15	48902943	48902943	A	G	FBN1	c.328T>C	NM_000138.4	NP_000129.3:p.(Ser110Pro)	NC_000015.9:g.48902943A>G	VUS	1 lab	5dd0244a57
7:143039483 CLCN1 T>C	7	143039483	143039483	T	C	CLCN1	c.1815T>C	NM_000083.3	NP_000074.3:p.(Val605=)	NC_000007.13:g.143039483T>C	(Likely) benign	1 lab	5de25164bf
16:56832376 NUP93 C>A	16	56832376	56832376	C	A	NUP93	c.298-12C>A	NM_014669.5	NP_055484.3:p.?	NC_000016.9:g.56832376C>A	(Likely) benign	1 lab	5de8552134
2:166764256 TTC21B G>A	2	166764256	166764256	G	A	TTC21B	c.2500C>T	NM_024753.5	NP_079029.3:p.(Gln834Ter)	NC_000002.11:g.166764256G>A	(Likely) pathogenic	1 lab	5dec3fb6ac
1:57409459 C8B C>A	1	57409459	57409459	C	A	C8B	c.1144G>T	NM_000066.2	NP_000057.1:p.(Asp382Tyr)	NC_000001.10:g.57409459C>A	(Likely) benign	1 lab	5df1644265
19:39207923 ACTN4 C>T	19	39207923	39207923	C	T	ACTN4	c.1110C>T	NM_004924.6	NP_004915.2:p.(Pro370=)	NC_000019.9:g.39207923C>T	(Likely) benign	1 lab	5df5b89332
11:108224697 ATM G>A	11	108224697	108224697	G	A	ATM	c.8786+90G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108224697G>A	(Likely) benign	1 lab	5df8b485d5
13:52520473 ATP7B C>T	13	52520473	52520473	C	T	ATP7B	c.3007G>A	NM_000053.4	NP_000044.2:p.(Ala1003Thr)	NC_000013.10:g.52520473C>T	(Likely) pathogenic	1 lab	5df8ea1721
7:69583230 AUTS2 G>A	7	69583230	69583230	G	A	AUTS2	c.624+11G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69583230G>A	(Likely) benign	1 lab	5dfb5f9192
14:23890231 MYH7 T>C	14	23890231	23890231	T	C	MYH7	c.3272A>G	NM_000257.2	NP_000248.2:p.(Asn1091Ser)	NC_000014.8:g.23890231T>C	VUS	1 lab	5e02305389
6:135754263 AHI1 C>T	6	135754263	135754263	C	T	AHI1	c.2168G>A	NM_017651.4	NP_060121.3:p.(Arg723Gln)	NC_000006.11:g.135754263C>T	(Likely) pathogenic	1 lab	5e09711f78
8:22021517 SFTPC G>A	8	22021517	22021517	G	A	SFTPC	c.539G>A	NM_001172357.2	NP_001165828.1:p.(Ser180Asn)	NC_000008.10:g.22021517G>A	(Likely) benign	1 lab	d01e28e415
16:2169396 PKD1 C>T	16	2169396	2169396	C	T	PKD1	c.216-17G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2169396C>T	(Likely) benign	1 lab	5e0c55fce5
X:49851485 CLCN5 C>CA	X	49851485	49851486	C	CA	CLCN5	c.1306dup	NM_000084.5	NP_000075.1:p.(Ile436AsnfsTer23)	NC_000023.10:g.49851486dup	(Likely) pathogenic	1 lab	5e0f7bd536
2:227927189 COL4A4 GTT>G	2	227927189	227927202	GTT	G	COL4A4	c.2056+55_2056+56del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227927201_227927202del	(Likely) benign	1 lab	5e1629a291
12:6442583 TNFRSF1A A>C	12	6442583	6442583	A	C	TNFRSF1A	c.422T>G	NM_001065.3	NP_001056.1:p.(Phe141Cys)	NC_000012.11:g.6442583A>C	(Likely) pathogenic	1 lab	5e163f49b4
15:65370516 KBTBD13 A>G	15	65370516	65370516	A	G	KBTBD13	c.1363A>G	NM_001101362.2	NP_001094832.1:p.(Thr455Ala)	NC_000015.9:g.65370516A>G	(Likely) benign	1 lab	5e16490459
18:28662249 DSC2 A>C	18	28662249	28662249	A	C	DSC2				NC_000018.9:g.28662249A>C	VUS	1 lab	5e181df071
20:30676460 HCK C>T	20	30676460	30676460	C	T	HCK	c.1032+13C>T	NM_001172132.2	NP_001165603.1:p.?	NC_000020.10:g.30676460C>T	(Likely) benign	1 lab	5e97b90459
10:75856980 VCL C>CTTAA	10	75856980	75856981	C	CTTAA	VCL	c.1762_1763insTTAA	NM_014000.2	NP_054706.1:p.(Gln588LeufsTer32)	NC_000010.10:g.75856980_75856981insTTAA	VUS	1 lab	5e19cba4f0
16:50745929 NOD2 C>T	16	50745929	50745929	C	T	NOD2	c.2107C>T	NM_022162.1	NP_071445.1:p.(Arg703Cys)	NC_000016.9:g.50745929C>T	(Likely) benign	1 lab	5e20f1bccd
12:49445898 KMT2D G>A	12	49445898	49445898	G	A	KMT2D	c.1568C>T	NM_003482.3	NP_003473.3:p.(Pro523Leu)	NC_000012.11:g.49445898G>A	(Likely) benign	1 lab	5e26ee31b3
9:130587518 ENG G>A	9	130587518	130587518	G	A	ENG	c.808C>T	NM_000118.3	NP_000109.1:p.(Gln270Ter)	NC_000009.11:g.130587518G>A	(Likely) pathogenic	1 lab	5e2732a6db
X:133632434 HPRT1 G>C	X	133632434	133632434	G	C	HPRT1	c.500G>C	NM_000194.3	NP_000185.1:p.(Arg167Thr)	NC_000023.10:g.133632434G>C	(Likely) pathogenic	1 lab	5e27d79305
16:2150509 PKD1 C>T	16	2150509	2150509	C	T	PKD1	c.9456G>A	NM_001009944.2	NP_001009944.2:p.(Arg3152=)	NC_000016.9:g.2150509C>T	(Likely) benign	1 lab	5e28b4ef7a
5:88018316 MEF2C T>C	5	88018316	88018316	T	C	MEF2C	c.*105A>G	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88018316T>C	(Likely) benign	1 lab	5e2936f8ce
7:117431524 CTTNBP2 C>T	7	117431524	117431524	C	T	CTTNBP2	c.1726G>A	NM_033427.3	NP_219499.1:p.(Gly576Arg)	NC_000007.13:g.117431524C>T	VUS	1 lab	d0208152ba
1:154548177 CHRNB2 T>A	1	154548177	154548177	T	A	CHRNB2	c.1339-61T>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154548177T>A	(Likely) benign	1 lab	5e2fc6d064
9:104187825 ALDOB C>A	9	104187825	104187825	C	A	ALDOB	c.709G>T	NM_000035.4	NP_000026.2:p.(Gly237Ter)	NC_000009.11:g.104187825C>A	(Likely) pathogenic	1 lab	5e32953329
19:10477132 TYK2 C>T	19	10477132	10477132	C	T	TYK2	c.590G>A	NM_003331.4	NP_003322.3:p.(Arg197His)	NC_000019.9:g.10477132C>T	(Likely) benign	1 lab	5e33529cee
9:129455393 LMX1B A>C	9	129455393	129455393	A	C	LMX1B	c.560-28A>C	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129455393A>C	(Likely) benign	1 lab	5e35ec128c
4:113353049 ALPK1 C>A	4	113353049	113353049	C	A	ALPK1	c.2346C>A	NM_025144.4	NP_079420.3:p.(Pro782=)	NC_000004.11:g.113353049C>A	(Likely) benign	1 lab	5e36b0d8db
13:32944563 BRCA2 G>C	13	32944563	32944563	G	C	BRCA2	c.8356G>C	NM_000059.3	NP_000050.2:p.(Ala2786Pro)	NC_000013.10:g.32944563G>C	(Likely) pathogenic	1 lab	5e3af8ffa7
X:153297010 MECP2 T>C	X	153297010	153297010	T	C	MECP2	c.378-109A>G	NM_004992.3	NP_004983.1:p.?	NC_000023.10:g.153297010T>C	(Likely) benign	1 lab	5e43890b0b
15:42137201 JMJD7-PLA2G4B G>A	15	42137201	42137201	G	A	JMJD7-PLA2G4B	c.1865G>A	NM_005090.3	NP_005081.1:p.(Arg622His)	NC_000015.9:g.42137201G>A	(Likely) benign	1 lab	5e4c53bf31
22:32150982 DEPDC5 CT>C	22	32150982	32150985	CT	C	DEPDC5	c.58+20del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32150985del	(Likely) benign	1 lab	5e4d5b28c0
17:61568704 ACE C>T	17	61568704	61568704	C	T	ACE	c.2874C>T	NM_000789.4	NP_000780.1:p.(His958=)	NC_000017.10:g.61568704C>T	(Likely) benign	1 lab	5e54356a9b
12:12006458 ETV6 A>C	12	12006458	12006458	A	C	ETV6	c.426A>C	NM_001987.4	NP_001978.1:p.(Thr142=)	NC_000012.11:g.12006458A>C	(Likely) benign	1 lab	5e5903af42
16:3781175 CREBBP G>A	16	3781175	3781175	G	A	CREBBP	c.5172+18C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3781175G>A	(Likely) benign	1 lab	5e5c3fb2c4
20:52774612 CYP24A1 A>G	20	52774612	52774612	A	G	CYP24A1	c.1236+13T>C	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52774612A>G	(Likely) benign	1 lab	5e611df7d8
17:79826935 ARHGDIA G>A	17	79826935	79826935	G	A	ARHGDIA	c.432C>T	NM_001185077.3	NP_001172006.1:p.(Tyr144=)	NC_000017.10:g.79826935G>A	(Likely) benign	1 lab	5e6c3ab6be
4:151789351 LRBA G>A	4	151789351	151789351	G	A	LRBA	c.2556C>T	NM_001199282.2	NP_001186211.2:p.(Asn852=)	NC_000004.11:g.151789351G>A	(Likely) benign	1 lab	5e6d0b0e59
19:13411131 CACNA1A AT>A	19	13411131	13411141	AT	A	CACNA1A	c.2279+232del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13411141del	(Likely) benign	1 lab	5e737d9840
16:20360240 UMOD T>C	16	20360240	20360240	T	C	UMOD	c.482A>G	NM_001278614.2	NP_001265543.1:p.(Asn161Ser)	NC_000016.9:g.20360240T>C	(Likely) pathogenic	1 lab	5e78203e12
5:90021499 ADGRV1 G>T	5	90021499	90021499	G	T	ADGRV1	c.10161+26G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021499G>T	(Likely) benign	1 lab	5eba9e4b34
20:18491545 SEC23B C>T	20	18491545	18491545	C	T	SEC23B	c.66C>T	NM_006363.6	NP_006354.2:p.(Asn22=)	NC_000020.10:g.18491545C>T	(Likely) benign	1 lab	5e8210d839
6:33655357 ITPR3 G>A	6	33655357	33655357	G	A	ITPR3	c.6264+16G>A	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33655357G>A	(Likely) benign	1 lab	5e869f68bc
8:41566635 ANK1 T>TAAAC	8	41566635	41566654	T	TAAAC	ANK1	c.1801-146_1801-143dup	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41566651_41566654dup	(Likely) benign	1 lab	5e877525d7
13:39424332 FREM2 A>C	13	39424332	39424332	A	C	FREM2	c.6537A>C	NM_207361.6	NP_997244.4:p.(Glu2179Asp)	NC_000013.10:g.39424332A>C	(Likely) pathogenic	1 lab	5e89217726
X:21488879 CNKSR2 T>C	X	21488879	21488879	T	C	CNKSR2	c.520-5T>C	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21488879T>C	(Likely) benign	1 lab	5e8a699235
22:45691594 UPK3A A>G	22	45691594	45691594	A	G	UPK3A	c.858A>G	NM_006953.4	NP_008884.1:p.(Gln286=)	NC_000022.10:g.45691594A>G	(Likely) benign	1 lab	5e8c7589e3
7:123303768 LMOD2 T>C	7	123303768	123303768	T	C	LMOD2	c.1618-5T>C	NM_207163.3	NP_997046.1:p.?	NC_000007.13:g.123303768T>C	(Likely) benign	1 lab	5e8d4b8832
1:154544647 CHRNB2 G>A	1	154544647	154544647	G	A	CHRNB2	c.1338+10G>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154544647G>A	(Likely) benign	1 lab	5e9a4cbf7c
5:90008416 ADGRV1 C>T	5	90008416	90008416	C	T	ADGRV1	c.9184+171C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90008416C>T	(Likely) benign	1 lab	5e9cfe0f70
6:36651889 CDKN1A C>T	6	36651889	36651889	C	T	CDKN1A	c.11C>T	NM_001220778.2	NP_001207707.1:p.(Pro4Leu)	NC_000006.11:g.36651889C>T	(Likely) benign	1 lab	5e9d4e5ba1
X:153279745 IRAK1 T>C	X	153279745	153279745	T	C	IRAK1	c.1303-16A>G	NM_001569.4	NP_001560.2:p.?	NC_000023.10:g.153279745T>C	(Likely) benign	1 lab	5e9dd1638e
19:50826210 KCNC3 G>C	19	50826210	50826210	G	C	KCNC3	c.1978+22C>G	NM_004977.3	NP_004968.2:p.?	NC_000019.9:g.50826210G>C	VUS	1 lab	5e9f5d9eda
2:204571459 CD28 A>G	2	204571459	204571459	A	G	CD28	c.40A>G	NM_006139.4	NP_006130.1:p.(Ile14Val)	NC_000002.11:g.204571459A>G	(Likely) benign	1 lab	5e9f690be5
3:48508483 TREX1 C>T	3	48508483	48508483	C	T	TREX1	c.429C>T	NM_033629.6	NP_338599.1:p.(Leu143=)	NC_000003.11:g.48508483C>T	(Likely) benign	1 lab	5eabba691e
5:89981563 ADGRV1 T>A	5	89981563	89981563	T	A	ADGRV1	c.6275-34T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89981563T>A	(Likely) benign	1 lab	5eb25c043e
10:16967222 CUBN C>A	10	16967222	16967222	C	A	CUBN	c.6646+18G>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16967222C>A	(Likely) benign	1 lab	5ebbcf05d1
12:116675518 MED13L A>AAG	12	116675518	116675521	A	AAG	MED13L	c.73-10_73-9dup	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116675520_116675521dup	(Likely) benign	1 lab	5ec71ef2f4
6:133777803 EYA4 G>C	6	133777803	133777803	G	C	EYA4	c.370+17G>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133777803G>C	(Likely) benign	1 lab	5ecb70eeb4
9:6533116 GLDC C>T	9	6533116	6533116	C	T	GLDC	c.2964G>A	NM_000170.2	NP_000161.2:p.(Arg988=)	NC_000009.11:g.6533116C>T	(Likely) benign	1 lab	5ecb9d592d
X:154157271 F8 C>A	X	154157271	154157271	C	A	F8	c.4794G>T	NM_000132.3	NP_000123.1:p.(Glu1598Asp)	NC_000023.10:g.154157271C>A	(Likely) benign	1 lab	5ecdc41917
3:122000871 CASR C>T	3	122000871	122000871	C	T	CASR	c.1609-59C>T	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.122000871C>T	(Likely) benign	1 lab	5ece7e96f0
6:31901371 C2 C>T	6	31901371	31901371	C	T	C2	c.443-16C>T	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31901371C>T	(Likely) benign	1 lab	5ecf0ca2e7
1:63836727 ALG6 TCAGGTAATA>T	1	63836727	63836738	TCAGGTAATA	T	ALG6	c.82_82+8del	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63836730_63836738del	(Likely) pathogenic	1 lab	5ed056b5fc
1:146757108 CHD1L A>G	1	146757108	146757108	A	G	CHD1L	c.1962A>G	NM_004284.6	NP_004275.4:p.(Arg654=)	NC_000001.10:g.146757108A>G	(Likely) benign	1 lab	5ed392221f
10:121432110 BAG3 G>T	10	121432110	121432110	G	T	BAG3	c.851G>T	NM_004281.3	NP_004272.2:p.(Ser284Ile)	NC_000010.10:g.121432110G>T	(Likely) benign	1 lab	5ed78f0765
5:169494549 DOCK2 C>A	5	169494549	169494549	C	A	DOCK2	c.4503C>A	NM_004946.3	NP_004937.1:p.(Thr1501=)	NC_000005.9:g.169494549C>A	(Likely) benign	1 lab	5ed90238ba
12:8672846 CLEC4D A>G	12	8672846	8672846	A	G	CLEC4D	c.409A>G	NM_080387.5	NP_525126.2:p.(Arg137Gly)	NC_000012.11:g.8672846A>G	(Likely) benign	1 lab	5ed9fcecc7
2:109524466 EDAR A>G	2	109524466	109524466	A	G	EDAR	c.813T>C	NM_022336.4	NP_071731.1:p.(Asp271=)	NC_000002.11:g.109524466A>G	(Likely) benign	1 lab	5ee0b5e7da
21:34655655 IL10RB G>A	21	34655655	34655655	G	A	IL10RB				NC_000021.8:g.34655655G>A	(Likely) benign	1 lab	6114d6804d
1:237850666 RYR2 C>T	1	237850666	237850666	C	T	RYR2	c.9018-89C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850666C>T	(Likely) benign	1 lab	5ee4a073a9
11:36597305 RAG1 A>G	11	36597305	36597305	A	G	RAG1	c.2451A>G	NM_000448.2	NP_000439.1:p.(Glu817=)	NC_000011.9:g.36597305A>G	(Likely) benign	1 lab	5ee8cfdfdf
3:10188233 VHL G>A	3	10188233	10188233	G	A	VHL	c.376G>A	NM_000551.3	NP_000542.1:p.(Asp126Asn)	NC_000003.11:g.10188233G>A	(Likely) pathogenic	1 lab	5eec8ece68
16:15843983 MYH11 G>A	16	15843983	15843983	G	A	MYH11	c.2079+12C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15843983G>A	(Likely) benign	1 lab	5eef40dec3
X:32716074 DMD G>A	X	32716074	32716074	G	A	DMD	c.504C>T	NM_004010.3	NP_004001.1:p.(Ser168=)	NC_000023.10:g.32716074G>A	(Likely) benign	1 lab	5ef5d6972f
2:179406990 TTN C>T	2	179406990	179406990	C	T	TTN	c.70672+1G>A	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179406990C>T	(Likely) pathogenic	1 lab	5ef879a02e
1:43395298 SLC2A1 A>G	1	43395298	43395298	A	G	SLC2A1	c.833T>C	NM_006516.3	NP_006507.2:p.(Leu278Pro)	NC_000001.10:g.43395298A>G	(Likely) pathogenic	1 lab	5efad618db
7:27239275 HOXA13 G>GGGCCCGCCT	7	27239275	27239280	G	GGGCCCGCCT	HOXA13	c.421_422insAGGCGGGCC	NM_000522.5	NP_000513.2:p.(Gly140_Pro141insGlnAlaGly)	NC_000007.13:g.27239279_27239280insCGCCTGGCC	(Likely) benign	1 lab	5efbd9805d
17:78169455 CARD14 A>G	17	78169455	78169455	A	G	CARD14	c.1594+4A>G	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78169455A>G	(Likely) benign	1 lab	5efbf64030
X:153993821 DKC1 C>T	X	153993821	153993821	C	T	DKC1	c.171+16C>T	NM_001363.3	NP_001354.1:p.?	NC_000023.10:g.153993821C>T	(Likely) benign	1 lab	5eff9cda9c
X:7811974 VCX A>G	X	7811974	7811974	A	G	VCX	c.538A>G	NM_013452.2	NP_038480.2:p.(Met180Val)	NC_000023.10:g.7811974A>G	(Likely) benign	1 lab	5effc2e9c2
17:48244753 SGCA C>T	17	48244753	48244753	C	T	SGCA	c.62C>T	NM_000023.2	NP_000014.1:p.(Thr21Ile)	NC_000017.10:g.48244753C>T	(Likely) benign	1 lab	5f04abdf33
7:103185752 RELN G>A	7	103185752	103185752	G	A	RELN	c.6342C>T	NM_005045.4	NP_005036.2:p.(Ala2114=)	NC_000007.13:g.103185752G>A	(Likely) benign	1 lab	5f07ad8827
11:108121471 ATM T>G	11	108121471	108121471	T	G	ATM	c.1279T>G	NM_000051.3	NP_000042.3:p.(Leu427Val)	NC_000011.9:g.108121471T>G	VUS	1 lab	5f0d3c6ee5
9:14824988 FREM1 C>T	9	14824988	14824988	C	T	FREM1	c.1884G>A	NM_144966.5	NP_659403.4:p.(Val628=)	NC_000009.11:g.14824988C>T	(Likely) benign	1 lab	5f12219dda
18:34205655 FHOD3 C>T	18	34205655	34205655	C	T	FHOD3	c.1139C>T	NM_001281740.3	NP_001268669.1:p.(Pro380Leu)	NC_000018.9:g.34205655C>T	(Likely) benign	1 lab	5f181f8fd1
19:38995394 RYR1 G>T	19	38995394	38995394	G	T	RYR1	c.8074G>T	NM_000540.2	NP_000531.2:p.(Asp2692Tyr)	NC_000019.9:g.38995394G>T	(Likely) pathogenic	1 lab	5f1a6fa699
2:166210789 SCN2A C>A	2	166210789	166210789	C	A	SCN2A	c.3007C>A	NM_021007.3	NP_066287.2:p.(Leu1003Ile)	NC_000002.11:g.166210789C>A	(Likely) pathogenic	1 lab	5f1c3b0028
1:200587590 KIF14 A>G	1	200587590	200587590	A	G	KIF14	c.262T>C	NM_014875.3	NP_055690.1:p.(Leu88=)	NC_000001.10:g.200587590A>G	(Likely) benign	1 lab	5f1cdf9bbc
1:247587686 NLRP3 A>C	1	247587686	247587686	A	C	NLRP3	c.935A>C	NM_001243133.2	NP_001230062.1:p.(His312Pro)	NC_000001.10:g.247587686A>C	(Likely) pathogenic	1 lab	5f1e598d99
X:153706746 LAGE3 G>T	X	153706746	153706746	G	T	LAGE3	c.193C>A	NM_006014.4	NP_006005.2:p.(Leu65Ile)	NC_000023.10:g.153706746G>T	(Likely) benign	1 lab	5f22274a51
1:237670099 RYR2 C>A	1	237670099	237670099	C	A	RYR2	c.2703C>A	NM_001035.3	NP_001026.2:p.(Gly901=)	NC_000001.10:g.237670099C>A	(Likely) benign	1 lab	5f225318f0
11:20658709 SLC6A5 CGG>C	11	20658709	20658711	CGG	C	SLC6A5	c.1738-8_1738-7del	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20658710_20658711del	(Likely) benign	1 lab	5f23aa882a
16:3293008 MEFV C>T	16	3293008	3293008	C	T	MEFV	c.*133G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293008C>T	(Likely) benign	1 lab	5f24bd88f6
9:14756183 FREM1 TA>T	9	14756183	14756192	TA	T	FREM1	c.5407+188del	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14756192del	(Likely) benign	1 lab	5f29c58265
1:196706029 CFH G>A	1	196706029	196706029	G	A	CFH	c.2489G>A	NM_000186.3	NP_000177.2:p.(Arg830Gln)	NC_000001.10:g.196706029G>A	(Likely) benign	1 lab	5f2a2fc809
8:96070181 NDUFAF6 T>C	8	96070181	96070181	T	C	NDUFAF6	c.*16T>C	NM_152416.4	NP_689629.2:p.?	NC_000008.10:g.96070181T>C	(Likely) benign	1 lab	d02642f256
15:42105888 MAPKBP1 C>T	15	42105888	42105888	C	T	MAPKBP1	c.907C>T	NM_001128608.2	NP_001122080.1:p.(Arg303Cys)	NC_000015.9:g.42105888C>T	VUS	1 lab	5f2efc2c39
8:133186580 KCNQ3 A>G	8	133186580	133186580	A	G	KCNQ3	c.950T>C	NM_004519.4	NP_004510.1:p.(Ile317Thr)	NC_000008.10:g.133186580A>G	VUS	1 lab	5f33241ade
14:23895022 MYH7 C>G	14	23895022	23895022	C	G	MYH7	c.2168G>C	NM_000257.2	NP_000248.2:p.(Arg723Pro)	NC_000014.8:g.23895022C>G	(Likely) pathogenic	1 lab	5f34a3b2fd
22:41533785 EP300 T>C	22	41533785	41533785	T	C	EP300	c.1751T>C	NM_001429.4	NP_001420.2:p.(Val584Ala)	NC_000022.10:g.41533785T>C	VUS	1 lab	5f36294c63
19:42408465 ARHGEF1 G>A	19	42408465	42408465	G	A	ARHGEF1	c.2136G>A	NM_199002.2	NP_945353.1:p.(Thr712=)	NC_000019.9:g.42408465G>A	(Likely) benign	1 lab	5f3bcbd4cd
2:238274828 COL6A3 C>A	2	238274828	238274828	C	A	COL6A3	c.5501-150G>T	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238274828C>A	(Likely) benign	1 lab	5f4166c6a5
6:152685966 SYNE1 C>T	6	152685966	152685966	C	T	SYNE1	c.10145+16G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152685966C>T	(Likely) benign	1 lab	5f43fda295
1:230846187 AGT G>A	1	230846187	230846187	G	A	AGT	c.410C>T	NM_000029.4	NP_000020.1:p.(Thr137Met)	NC_000001.10:g.230846187G>A	(Likely) benign	1 lab	5f49762f6a
12:53823185 AMHR2 AAAAG>A	12	53823185	53823190	AAAAG	A	AMHR2	c.968-50_968-47del	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53823187_53823190del	(Likely) benign	1 lab	5f4a1c2ea7
1:198725097 PTPRC A>G	1	198725097	198725097	A	G	PTPRC	c.3708A>G	NM_002838.5	NP_002829.3:p.(Val1236=)	NC_000001.10:g.198725097A>G	(Likely) benign	1 lab	5f4b32bb41
11:125761378 HYLS1 G>GA	11	125761378	125761395	G	GA	HYLS1	c.-81+28dup	NM_145014.2	NP_659451.1:p.?	NC_000011.9:g.125761395dup	(Likely) benign	1 lab	5f4d480454
12:52145089 SCN8A T>G	12	52145089	52145089	T	G	SCN8A	c.2132-50T>G	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52145089T>G	(Likely) benign	1 lab	5f4e28f1e5
16:1545526 TELO2 A>T	16	1545526	1545526	A	T	TELO2	c.515A>T	NM_016111.4	NP_057195.2:p.(Gln172Leu)	NC_000016.9:g.1545526A>T	VUS	1 lab	d026a72e87
10:16992007 CUBN G>C	10	16992007	16992007	G	C	CUBN	c.5073C>G	NM_001081.3	NP_001072.2:p.(Pro1691=)	NC_000010.10:g.16992007G>C	(Likely) benign	1 lab	5f531f0059
11:2604708 KCNQ1 C>T	11	2604708	2604708	C	T	KCNQ1	c.965C>T	NM_000218.2	NP_000209.2:p.(Thr322Met)	NC_000011.9:g.2604708C>T	(Likely) pathogenic	1 lab	5f569b14fa
4:144468559 SMARCA5 A>G	4	144468559	144468559	A	G	SMARCA5	c.2675A>G	NM_003601.4	NP_003592.3:p.(Asn892Ser)	NC_000004.11:g.144468559A>G	VUS	1 lab	d027adc650
X:153586003 FLNA AG>A	X	153586003	153586005	AG	A	FLNA	c.4756-13del	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153586005del	(Likely) benign	1 lab	5f5c30b3e6
1:155160749 MUC1 C>T	1	155160749	155160749	C	T	MUC1	c.805G>A	NM_001204286.1	NP_001191215.1:p.(Val269Ile)	NC_000001.10:g.155160749C>T	(Likely) benign	1 lab	5f5d6e805c
6:31637142 CSNK2B CA>C	6	31637142	31637144	CA	C	CSNK2B	c.416del	NM_001320.7	NP_001311.3:p.(Lys139SerfsTer88)	NC_000006.11:g.31637144del	(Likely) pathogenic	1 lab	5f615238ae
16:1261110 CACNA1H C>T	16	1261110	1261110	C	T	CACNA1H	c.4224-58C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1261110C>T	(Likely) benign	1 lab	5f6619f4b9
7:44579062 NPC1L1 C>G	7	44579062	44579062	C	G	NPC1L1	c.934G>C	NM_013389.3	NP_037521.2:p.(Asp312His)	NC_000007.13:g.44579062C>G	(Likely) benign	1 lab	5f66985461
12:110024579 MVK C>T	12	110024579	110024579	C	T	MVK	c.652C>T	NM_000431.2	NP_000422.1:p.(Gln218Ter)	NC_000012.11:g.110024579C>T	(Likely) pathogenic	1 lab	5f67e15b4e
X:10155551 CLCN4 C>A	X	10155551	10155551	C	A	CLCN4	c.145-4C>A	NM_001830.4	NP_001821.2:p.?	NC_000023.10:g.10155551C>A	(Likely) benign	1 lab	5f68a3f67a
18:33780236 MOCOS C>T	18	33780236	33780236	C	T	MOCOS	c.890C>T	NM_017947.4	NP_060417.4:p.(Ala297Val)	NC_000018.9:g.33780236C>T	(Likely) benign	1 lab	5f6bdec0d7
6:33631668 ITPR3 G>T	6	33631668	33631668	G	T	ITPR3	c.1148+11G>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33631668G>T	(Likely) benign	1 lab	5f6d26f997
14:50120853 POLE2 A>G	14	50120853	50120853	A	G	POLE2	c.1133+20T>C	NM_002692.4	NP_002683.2:p.?	NC_000014.8:g.50120853A>G	(Likely) benign	1 lab	5f79f143eb
10:72360548 PRF1 G>A	10	72360548	72360548	G	A	PRF1	c.111C>T	NM_001083116.1	NP_001076585.1:p.(Phe37=)	NC_000010.10:g.72360548G>A	(Likely) benign	1 lab	5f966c71b5
20:409292 RBCK1 C>T	20	409292	409292	C	T	RBCK1	c.1308+59C>T	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.409292C>T	(Likely) benign	1 lab	5f82db111e
1:173916513 RC3H1 T>C	1	173916513	173916513	T	C	RC3H1	c.2731A>G	NM_172071.4	NP_742068.1:p.(Ile911Val)	NC_000001.10:g.173916513T>C	(Likely) benign	1 lab	5f838338ba
3:49159761 LAMB2 C>T	3	49159761	49159761	C	T	LAMB2	c.4616G>A	NM_002292.4	NP_002283.3:p.(Arg1539Gln)	NC_000003.11:g.49159761C>T	(Likely) pathogenic	1 lab	5f8495801d
2:179430435 TTN G>A	2	179430435	179430435	G	A	TTN	c.80424C>T	NM_001267550.1	NP_001254479.1:p.(Gly26808=)	NC_000002.11:g.179430435G>A	(Likely) benign	1 lab	5f8978f23e
5:90103709 ADGRV1 G>T	5	90103709	90103709	G	T	ADGRV1	c.14972+155G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90103709G>T	(Likely) benign	1 lab	5f8b1d5d81
3:64592622 ADAMTS9 C>T	3	64592622	64592622	C	T	ADAMTS9	c.3474+14G>A	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64592622C>T	(Likely) benign	1 lab	5f8bb8a61e
10:124924484 BUB3 CTT>C	10	124924484	124924495	CTT	C	BUB3	c.*1143_*1144del	NM_004725.4	NP_004716.1:p.?	NC_000010.10:g.124924494_124924495del	(Likely) benign	1 lab	5f8e101b50
2:231077541 SP110 G>A	2	231077541	231077541	G	A	SP110	c.518C>T	NM_004509.4	NP_004500.4:p.(Ser173Leu)	NC_000002.11:g.231077541G>A	(Likely) benign	1 lab	5f905642c0
2:166210905 SCN2A G>A	2	166210905	166210905	G	A	SCN2A	c.3123G>A	NM_021007.3	NP_066287.2:p.(Pro1041=)	NC_000002.11:g.166210905G>A	(Likely) benign	1 lab	5f9522950e
X:76936949 ATRX AAC>A	X	76936949	76936952	AAC	A	ATRX	c.3736+61_3736+62del	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76936951_76936952del	(Likely) benign	1 lab	5f983ff064
7:128578301 IRF5 G>T	7	128578301	128578301	G	T	IRF5	c.-12+198G>T	NM_001098629.3	NP_001092099.1:p.?	NC_000007.13:g.128578301G>T	(Likely) benign	1 lab	5f9c50d825
10:13213114 MCM10 CAA>C	10	13213114	13213116	CAA	C	MCM10	c.201_202del	NM_018518.5	NP_060988.3:p.(Asp69ArgfsTer18)	NC_000010.10:g.13213115_13213116del	VUS	1 lab	5f9cc9b1ad
19:55444906 NLRP7 GCA>G	19	55444906	55444921	GCA	G	NLRP7	c.2642+29_2642+30del	NM_001127255.2	NP_001120727.1:p.?	NC_000019.9:g.55444920_55444921del	(Likely) benign	1 lab	5f9d21bedc
1:167794079 ADCY10 G>A	1	167794079	167794079	G	A	ADCY10	c.3765C>T	NM_018417.6	NP_060887.2:p.(Tyr1255=)	NC_000001.10:g.167794079G>A	(Likely) benign	1 lab	5f9e3fa24e
21:33038823 SOD1 TGAA>T	21	33038823	33038828	TGAA	T	SOD1	c.234_236del	NM_000454.5	NP_000445.1:p.(Glu79del)	NC_000021.8:g.33038826_33038828del	VUS	1 lab	5fa1244dcb
6:85472423 TBX18 C>A	6	85472423	85472423	C	A	TBX18	c.336G>T	NM_001080508.3	NP_001073977.1:p.(Ala112=)	NC_000006.11:g.85472423C>A	(Likely) benign	1 lab	5fa20376b7
7:36445877 ANLN C>G	7	36445877	36445877	C	G	ANLN	c.575C>G	NM_018685.5	NP_061155.2:p.(Ser192Trp)	NC_000007.13:g.36445877C>G	(Likely) benign	1 lab	5fa449d4fd
22:32218747 DEPDC5 C>T	22	32218747	32218747	C	T	DEPDC5	c.2075C>T	NM_001242896.3	NP_001229825.1:p.(Ser692Phe)	NC_000022.10:g.32218747C>T	(Likely) benign	1 lab	5fa57c12b9
1:247588647 NLRP3 G>T	1	247588647	247588647	G	T	NLRP3	c.1896G>T	NM_001243133.2	NP_001230062.1:p.(Leu632Phe)	NC_000001.10:g.247588647G>T	(Likely) pathogenic	1 lab	5faa99818b
19:55447773 NLRP7 G>A	19	55447773	55447773	G	A	NLRP7	c.2156C>T	NM_001127255.1	NP_001120727.1:p.(Ala719Val)	NC_000019.9:g.55447773G>A	(Likely) benign	1 lab	5fad56fcb1
19:13342775 CACNA1A G>A	19	13342775	13342775	G	A	CACNA1A	c.5268-101C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13342775G>A	(Likely) benign	1 lab	5fafc7df34
19:4552639 SEMA6B G>A	19	4552639	4552639	G	A	SEMA6B	c.784C>T	NM_032108.4	NP_115484.2:p.(Arg262Cys)	NC_000019.9:g.4552639G>A	(Likely) benign	1 lab	d028702969
17:17118689 FLCN G>A	17	17118689	17118689	G	A	FLCN	c.1301-59C>T	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17118689G>A	(Likely) benign	1 lab	5fb61fdb80
14:103342058 TRAF3 A>G	14	103342058	103342058	A	G	TRAF3	c.395A>G	NM_145725.2	NP_663777.1:p.(His132Arg)	NC_000014.8:g.103342058A>G	(Likely) benign	1 lab	5fb6f86fd4
14:100801373 WARS1 C>T	14	100801373	100801373	C	T	WARS1	c.1255G>A	NM_004184.4	NP_004175.2:p.(Asp419Asn)	NC_000014.8:g.100801373C>T	(Likely) benign	1 lab	5fb7b78986
1:22150130 HSPG2 C>T	1	22150130	22150130	C	T	HSPG2	c.12982G>A	NM_005529.6	NP_005520.4:p.(Ala4328Thr)	NC_000001.10:g.22150130C>T	(Likely) benign	1 lab	5fbf37d164
2:24494632 ITSN2 T>G	2	24494632	24494632	T	G	ITSN2	c.2257+3A>C	NM_147152.3	NP_671494.2:p.?	NC_000002.11:g.24494632T>G	VUS	1 lab	5fc18848a6
11:117869495 IL10RA C>T	11	117869495	117869495	C	T	IL10RA	c.876C>T	NM_001558.3	NP_001549.2:p.(Thr292=)	NC_000011.9:g.117869495C>T	(Likely) benign	1 lab	5fc37d8a9b
21:46924433 COL18A1 CAGG>C	21	46924433	46924436	CAGG	C	COL18A1	c.2832_2834del	NM_001379500.1	NP_001366429.1:p.(Gly945del)	NC_000021.8:g.46924434_46924436del	(Likely) benign	1 lab	d02c8e5f9f
2:179433274 TTN T>C	2	179433274	179433274	T	C	TTN	c.50765A>G	NM_133432.3	NP_597676.3:p.(Lys16922Arg)	NC_000002.11:g.179433274T>C	VUS	1 lab	5fcc421d72
2:216274853 FN1 A>AAC	2	216274853	216274875	A	AAC	FN1	c.1942-18_1942-17dup	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216274874_216274875dup	(Likely) benign	1 lab	5fcdf8bdcf
11:72535805 ATG16L2 T>C	11	72535805	72535805	T	C	ATG16L2	c.914T>C	NM_033388.2	NP_203746.1:p.(Ile305Thr)	NC_000011.9:g.72535805T>C	(Likely) benign	1 lab	5fce5ce1ca
2:74143874 ACTG2 C>T	2	74143874	74143874	C	T	ACTG2	c.969C>T	NM_001615.4	NP_001606.1:p.(Pro323=)	NC_000002.11:g.74143874C>T	(Likely) benign	1 lab	5fd0ed0dc2
1:168066163 GPR161 C>T	1	168066163	168066163	C	T	GPR161	c.742G>A	NM_001267609.1	NP_001254538.1:p.(Val248Ile)	NC_000001.10:g.168066163C>T	(Likely) benign	1 lab	5fd34b63ce
3:142274834 ATR A>G	3	142274834	142274834	A	G	ATR	c.2226T>C	NM_001184.4	NP_001175.2:p.(Cys742=)	NC_000003.11:g.142274834A>G	(Likely) benign	1 lab	5fd3cbdcc1
7:45222989 RAMP3 A>C	7	45222989	45222989	A	C	RAMP3	c.425A>C	NM_005856.3	NP_005847.1:p.(Lys142Thr)	NC_000007.13:g.45222989A>C	VUS	1 lab	5fd96c2b35
1:43395537 SLC2A1 C>A	1	43395537	43395537	C	A	SLC2A1	c.679+7G>T	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43395537C>A	(Likely) benign	1 lab	5fdd1eae59
5:89954114 ADGRV1 G>T	5	89954114	89954114	G	T	ADGRV1	c.4752+19G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89954114G>T	(Likely) benign	1 lab	5fe175b146
1:78395085 NEXN A>C	1	78395085	78395085	A	C	NEXN	c.949A>C	NM_144573.3	NP_653174.3:p.(Met317Leu)	NC_000001.10:g.78395085A>C	(Likely) benign	1 lab	5fe66f3a3a
16:2348528 ABCA3 G>C	16	2348528	2348528	G	C	ABCA3	c.1755C>G	NM_001089.2	NP_001080.2:p.(Pro585=)	NC_000016.9:g.2348528G>C	(Likely) benign	1 lab	60bb1223d1
17:48272430 COL1A1 T>A	17	48272430	48272430	T	A	COL1A1	c.1331A>T	NM_000088.3	NP_000079.2:p.(Asp444Val)	NC_000017.10:g.48272430T>A	VUS	1 lab	5fea0eaa23
18:47500867 MYO5B A>G	18	47500867	47500867	A	G	MYO5B	c.1175T>C	NM_001080467.3	NP_001073936.1:p.(Met392Thr)	NC_000018.9:g.47500867A>G	(Likely) pathogenic	1 lab	5feaeba953
11:694886 DEAF1 C>G	11	694886	694886	C	G	DEAF1	c.162G>C	NM_021008.3	NP_066288.2:p.(Ser54=)	NC_000011.9:g.694886C>G	(Likely) benign	1 lab	5fee73bd9c
3:190345098 IL1RAP GT>G	3	190345098	190345108	GT	G	IL1RAP	c.776-4del	NM_002182.4	NP_002173.1:p.?	NC_000003.11:g.190345108del	(Likely) benign	1 lab	5fef64138c
2:69586381 GFPT1 T>C	2	69586381	69586381	T	C	GFPT1	c.408+19A>G	NM_001244710.1	NP_001231639.1:p.?	NC_000002.11:g.69586381T>C	(Likely) benign	1 lab	5ff387efb6
2:1481355 TPO G>A	2	1481355	1481355	G	A	TPO	c.1317G>A	NM_000547.5	NP_000538.3:p.(Lys439=)	NC_000002.11:g.1481355G>A	(Likely) benign	1 lab	5ff9691623
16:3293475 MEFV T>A	16	3293475	3293475	T	A	MEFV	c.2012A>T	NM_000243.2	NP_000234.1:p.(Lys671Met)	NC_000016.9:g.3293475T>A	VUS	1 lab	5ff9ece81c
15:25605726 UBE3A A>G	15	25605726	25605726	A	G	UBE3A	c.1618-52T>C	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25605726A>G	(Likely) benign	1 lab	5ffa0bb606
5:90079171 ADGRV1 A>G	5	90079171	90079171	A	G	ADGRV1	c.13433+29A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90079171A>G	(Likely) benign	1 lab	5ffdd3f807
17:73832407 UNC13D G>A	17	73832407	73832407	G	A	UNC13D	c.1389+13C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73832407G>A	(Likely) benign	1 lab	5fff69a325
16:3293427 MEFV C>T	16	3293427	3293427	C	T	MEFV	c.2060G>A	NM_000243.2	NP_000234.1:p.(Gly687Asp)	NC_000016.9:g.3293427C>T	VUS	1 lab	5fffbf9733
11:73744494 C2CD3 T>A	11	73744494	73744494	T	A	C2CD3	c.6711A>T	NM_001286577.1	NP_001273506.1:p.(Arg2237Ser)	NC_000011.9:g.73744494T>A	(Likely) benign	1 lab	60015a33a7
16:3299520 MEFV C>T	16	3299520	3299520	C	T	MEFV	c.1171G>A	NM_000243.2	NP_000234.1:p.(Asp391Asn)	NC_000016.9:g.3299520C>T	VUS	1 lab	6008683a85
9:135772630 TSC1 AT>A	9	135772630	135772631	AT	A	TSC1	c.2915del	NM_000368.5	NP_000359.1:p.(Asp972ValfsTer4)	NC_000009.11:g.135772631del	VUS	1 lab	600a8a6f85
11:2416744 CD81 C>T	11	2416744	2416744	C	T	CD81	c.453C>T	NM_004356.3	NP_004347.1:p.(His151=)	NC_000011.9:g.2416744C>T	(Likely) benign	1 lab	600e0c9d35
11:18428649 LDHA T>TTC	11	18428649	18428650	T	TTC	LDHA	c.922-15_922-14insTC	NM_001165414.1	NP_001158886.1:p.?	NC_000011.9:g.18428649_18428650insTC	(Likely) benign	1 lab	6010145c65
10:75397596 MYOZ1 G>C	10	75397596	75397596	G	C	MYOZ1	c.158C>G	NM_021245.4	NP_067068.1:p.(Thr53Ser)	NC_000010.10:g.75397596G>C	VUS	1 lab	6011929516
1:160322003 NCSTN G>A	1	160322003	160322003	G	A	NCSTN	c.996+7G>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160322003G>A	(Likely) benign	1 lab	d02cdd1e02
16:5125374 ALG1 C>G	16	5125374	5125374	C	G	ALG1	c.391-15C>G	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5125374C>G	(Likely) benign	1 lab	601886c9d2
11:47354392 MYBPC3 T>C	11	47354392	47354392	T	C	MYBPC3	c.3463A>G	NM_000256.3	NP_000247.2:p.(Lys1155Glu)	NC_000011.9:g.47354392T>C	VUS	1 lab	6020039153
6:33638091 ITPR3 C>G	6	33638091	33638091	C	G	ITPR3	c.2190-11C>G	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33638091C>G	(Likely) benign	1 lab	60242b08f3
18:32392036 DTNA G>A	18	32392036	32392036	G	A	DTNA	c.562G>A	NM_001198939.2	NP_001185868.1:p.(Gly188Ser)	NC_000018.9:g.32392036G>A	VUS	1 lab	60253ce15c
15:86124712 AKAP13 A>G	15	86124712	86124712	A	G	AKAP13	c.3413A>G	NM_006738.6	NP_006729.4:p.(Asp1138Gly)	NC_000015.9:g.86124712A>G	(Likely) benign	1 lab	602985b7a8
17:48703556 CACNA1G C>T	17	48703556	48703556	C	T	CACNA1G	c.6578C>T	NM_018896.5	NP_061496.2:p.(Pro2193Leu)	NC_000017.10:g.48703556C>T	VUS	1 lab	d0302f068c
12:44177511 IRAK4 G>A	12	44177511	44177511	G	A	IRAK4	c.1172G>A	NM_016123.3	NP_057207.2:p.(Arg391His)	NC_000012.11:g.44177511G>A	(Likely) benign	1 lab	602d2b5a3e
10:60562867 BICC1 A>T	10	60562867	60562867	A	T	BICC1	c.2046A>T	NM_001080512.3	NP_001073981.1:p.(Glu682Asp)	NC_000010.10:g.60562867A>T	(Likely) benign	1 lab	602d8aa85e
19:39055701 RYR1 G>A	19	39055701	39055701	G	A	RYR1	c.12727G>A	NM_000540.2	NP_000531.2:p.(Glu4243Lys)	NC_000019.9:g.39055701G>A	(Likely) pathogenic	1 lab	602da4a096
2:179563579 TTN G>T	2	179563579	179563579	G	T	TTN	c.30745C>A	NM_001267550.1	NP_001254479.1:p.(Pro10249Thr)	NC_000002.11:g.179563579G>T	(Likely) benign	1 lab	6037836087
1:247587658 NLRP3 G>C	1	247587658	247587658	G	C	NLRP3	c.907G>C	NM_001243133.2	NP_001230062.1:p.(Asp303His)	NC_000001.10:g.247587658G>C	(Likely) pathogenic	1 lab	6037ca9b75
12:69115712 NUP107 C>G	12	69115712	69115712	C	G	NUP107	c.1403C>G	NM_020401.4	NP_065134.1:p.(Ser468Ter)	NC_000012.11:g.69115712C>G	(Likely) pathogenic	1 lab	603c2de04c
10:45430328 TMEM72 G>A	10	45430328	45430328	G	A	TMEM72	c.574G>A	NM_001123376.3	NP_001116848.1:p.(Gly192Arg)	NC_000010.10:g.45430328G>A	(Likely) benign	1 lab	603de46fe2
14:65242044 SPTB C>T	14	65242044	65242044	C	T	SPTB	c.4641G>A	NM_001024858.3	NP_001020029.1:p.(Ala1547=)	NC_000014.8:g.65242044C>T	(Likely) benign	1 lab	603e12ef20
16:15814113 MYH11 A>G	16	15814113	15814113	A	G	MYH11	c.4869T>C	NM_001040113.2	NP_001035202.1:p.(Ala1623=)	NC_000016.9:g.15814113A>G	(Likely) benign	1 lab	603ea842aa
15:72190008 MYO9A G>A	15	72190008	72190008	G	A	MYO9A	c.4836C>T	NM_006901.4	NP_008832.2:p.(Cys1612=)	NC_000015.9:g.72190008G>A	(Likely) benign	1 lab	603ff7bec9
10:95549724 LGI1 GA>G	10	95549724	95549733	GA	G	LGI1	c.432-123del	NM_005097.4	NP_005088.1:p.?	NC_000010.10:g.95549733del	(Likely) benign	1 lab	60403349b8
16:89249992 CDH15 C>G	16	89249992	89249992	C	G	CDH15	c.394C>G	NM_004933.3	NP_004924.1:p.(Leu132Val)	NC_000016.9:g.89249992C>G	VUS	1 lab	60452d8a95
7:116409675 MET C>CT	7	116409675	116409690	C	CT	MET	c.2638-9dup	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116409690dup	(Likely) benign	1 lab	6045395781
2:24483959 ITSN2 A>T	2	24483959	24483959	A	T	ITSN2	c.2682+16T>A	NM_147152.3	NP_671494.2:p.?	NC_000002.11:g.24483959A>T	(Likely) benign	1 lab	60457b0230
12:110029122 MVK TG>T	12	110029122	110029127	TG	T	MVK	c.850del	NM_000431.4	NP_000422.1:p.(Glu284LysfsTer17)	NC_000012.11:g.110029127del	(Likely) pathogenic	1 lab	60493ac278
12:66839295 GRIP1 GAAC>G	12	66839295	66839300	GAAC	G	GRIP1	c.1355-10_1355-8del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66839298_66839300del	(Likely) benign	1 lab	604e36e94c
19:55501424 NLRP2 G>A	19	55501424	55501424	G	A	NLRP2	c.2401G>A	NM_017852.5	NP_060322.1:p.(Ala801Thr)	NC_000019.9:g.55501424G>A	(Likely) benign	1 lab	6050bd83af
20:62071072 KCNQ2 G>A	20	62071072	62071072	G	A	KCNQ2	c.817-11C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62071072G>A	(Likely) benign	1 lab	60541bc961
10:60588560 BICC1 A>G	10	60588560	60588560	A	G	BICC1	c.2834A>G	NM_001080512.3	NP_001073981.1:p.(Asn945Ser)	NC_000010.10:g.60588560A>G	(Likely) benign	1 lab	60541e58aa
1:36932272 CSF3R G>T	1	36932272	36932272	G	T	CSF3R	c.2197C>A	NM_000760.4	NP_000751.1:p.(Pro733Thr)	NC_000001.10:g.36932272G>T	(Likely) benign	1 lab	605ab65730
20:62316944 RTEL1 C>T	20	62316944	62316944	C	T	RTEL1	c.1260C>T	NM_001283009.2	NP_001269938.1:p.(Ser420=)	NC_000020.10:g.62316944C>T	(Likely) benign	1 lab	605b90e4d6
2:27528980 TRIM54 C>T	2	27528980	27528980	C	T	TRIM54	c.992+10C>T	NM_032546.4	NP_115935.3:p.?	NC_000002.11:g.27528980C>T	(Likely) benign	1 lab	605b931244
4:77100813 SCARB2 C>T	4	77100813	77100813	C	T	SCARB2	c.469G>A	NM_005506.4	NP_005497.1:p.(Glu157Lys)	NC_000004.11:g.77100813C>T	VUS	1 lab	60624cdee5
3:47043472 NBEAL2 C>T	3	47043472	47043472	C	T	NBEAL2	c.4845C>T	NM_015175.2	NP_055990.1:p.(Arg1615=)	NC_000003.11:g.47043472C>T	(Likely) benign	1 lab	606556379e
10:16916365 CUBN T>C	10	16916365	16916365	T	C	CUBN	c.9236+8A>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16916365T>C	(Likely) benign	1 lab	6066f842a9
1:161599693 FCGR3B T>C	1	161599693	161599693	T	C	FCGR3B	c.194A>G	NM_001244753.2	NP_001231682.2:p.(Asn65Ser)	NC_000001.10:g.161599693T>C	(Likely) benign	1 lab	6067f6dcc3
14:29236694 FOXG1 A>C	14	29236694	29236694	A	C	FOXG1	c.209A>C	NM_005249.5	NP_005240.3:p.(Gln70Pro)	NC_000014.8:g.29236694A>C	(Likely) benign	1 lab	60683dce90
7:100320381 EPO C>T	7	100320381	100320381	C	T	EPO	c.341C>T	NM_000799.4	NP_000790.2:p.(Pro114Leu)	NC_000007.13:g.100320381C>T	(Likely) benign	1 lab	606927ea1f
2:179402266 TTN C>T	2	179402266	179402266	C	T	TTN	c.72848G>A	NM_133432.3	NP_597676.3:p.(Arg24283His)	NC_000002.11:g.179402266C>T	(Likely) benign	1 lab	6070909e59
5:77471591 AP3B1 G>A	5	77471591	77471591	G	A	AP3B1	c.1095+17C>T	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77471591G>A	(Likely) benign	1 lab	6070f6eee8
20:61981465 CHRNA4 T>C	20	61981465	61981465	T	C	CHRNA4	c.1298A>G	NM_000744.6	NP_000735.1:p.(Gln433Arg)	NC_000020.10:g.61981465T>C	(Likely) benign	1 lab	6073ae4774
5:36684018 SLC1A3 C>T	5	36684018	36684018	C	T	SLC1A3	c.1342C>T	NM_004172.5	NP_004163.3:p.(Leu448=)	NC_000005.9:g.36684018C>T	(Likely) benign	1 lab	60749ea6cd
11:124763860 ROBO4 C>T	11	124763860	124763860	C	T	ROBO4	c.1400G>A	NM_019055.6	NP_061928.4:p.(Arg467Gln)	NC_000011.9:g.124763860C>T	VUS	1 lab	607642e449
4:187540146 FAT1 C>CAATATGGTAAGTAA	4	187540146	187540160	C	CAATATGGTAAGTAA	FAT1	c.7580_7593dup	NM_005245.4	NP_005236.2:p.(Val2532LeufsTer6)	NC_000004.11:g.187540147_187540160dup	(Likely) pathogenic	1 lab	60767c3216
11:108196019 ATM C>CT	11	108196019	108196020	C	CT	ATM	c.6573-17dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108196020dup	(Likely) benign	1 lab	6079bb1b2c
1:40734207 ZMPSTE24 G>C	1	40734207	40734207	G	C	ZMPSTE24				NC_000001.10:g.40734207G>C	VUS	1 lab	60e0104f27
16:78466469 WWOX T>C	16	78466469	78466469	T	C	WWOX	c.876T>C	NM_016373.4	NP_057457.1:p.(Ala292=)	NC_000016.9:g.78466469T>C	(Likely) benign	1 lab	6081cde860
19:13318816 CACNA1A T>C	19	13318816	13318816	T	C	CACNA1A	c.6850A>G	NM_023035.3	NP_075461.2:p.(Thr2284Ala)	NC_000019.9:g.13318816T>C	(Likely) benign	1 lab	6086ff12cb
20:47886503 ZNFX1 T>C	20	47886503	47886503	T	C	ZNFX1	c.1846A>G	NM_021035.3	NP_066363.1:p.(Ile616Val)	NC_000020.10:g.47886503T>C	(Likely) benign	1 lab	6089c5e15f
9:108402316 FKTN T>A	9	108402316	108402316	T	A	FKTN	c.*4771T>A	NM_001079802.1	NP_001073270.1:p.?	NC_000009.11:g.108402316T>A	(Likely) benign	1 lab	6091b977d6
2:149240765 MBD5 G>A	2	149240765	149240765	G	A	MBD5	c.2605G>A	NM_018328.4	NP_060798.2:p.(Val869Ile)	NC_000002.11:g.149240765G>A	(Likely) benign	1 lab	60942177b0
15:93555371 CHD2 C>G	15	93555371	93555371	C	G	CHD2	c.4593-204C>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93555371C>G	(Likely) benign	1 lab	6094b36d13
10:16967564 CUBN G>C	10	16967564	16967564	G	C	CUBN	c.6462+19C>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16967564G>C	(Likely) benign	1 lab	60953c9c29
11:117869618 IL10RA C>T	11	117869618	117869618	C	T	IL10RA	c.999C>T	NM_001558.3	NP_001549.2:p.(Pro333=)	NC_000011.9:g.117869618C>T	(Likely) benign	1 lab	609bf1ce07
19:38993565 RYR1 G>A	19	38993565	38993565	G	A	RYR1	c.7881G>A	NM_000540.2	NP_000531.2:p.(Val2627=)	NC_000019.9:g.38993565G>A	(Likely) benign	1 lab	609fdde55a
7:131189284 PODXL G>A	7	131189284	131189284	G	A	PODXL	c.1384-17C>T	NM_005397.4	NP_005388.2:p.?	NC_000007.13:g.131189284G>A	(Likely) benign	1 lab	60a13e1daa
5:55237014 IL6ST C>T	5	55237014	55237014	C	T	IL6ST	c.2653G>A	NM_002184.4	NP_002175.2:p.(Val885Ile)	NC_000005.9:g.55237014C>T	(Likely) benign	1 lab	60a23ab52e
1:237957160 RYR2 T>C	1	237957160	237957160	T	C	RYR2	c.13783-7T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237957160T>C	(Likely) benign	1 lab	60a4bd22e6
11:613966 IRF7 CGGGCTGGGGCCCG>C	11	613966	613988	CGGGCTGGGGCCCG	C	IRF7	c.738_750del	NM_001572.5	NP_001563.2:p.(Gly247ArgfsTer3)	NC_000011.9:g.613976_613988del	(Likely) pathogenic	1 lab	60a5a24227
15:91548307 VPS33B A>G	15	91548307	91548307	A	G	VPS33B	c.1148T>C	NM_018668.4	NP_061138.3:p.(Ile383Thr)	NC_000015.9:g.91548307A>G	(Likely) benign	1 lab	60a5fa8c08
8:41552046 ANK1 T>C	8	41552046	41552046	T	C	ANK1	c.3327+64A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41552046T>C	(Likely) benign	1 lab	60ac307e53
15:93528945 CHD2 C>T	15	93528945	93528945	C	T	CHD2	c.3413+42C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93528945C>T	(Likely) benign	1 lab	60acd3c422
12:6444391 TNFRSF1A G>A	12	6444391	6444391	G	A	TNFRSF1A	c.40-981C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6444391G>A	(Likely) benign	1 lab	60acfa137d
6:33399930 SYNGAP1 C>T	6	33399930	33399930	C	T	SYNGAP1	c.296-8C>T	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33399930C>T	(Likely) benign	1 lab	60ad2c004d
X:110555863 DCX A>G	X	110555863	110555863	A	G	DCX	c.1269+7T>C	NM_000555.3	NP_000546.2:p.?	NC_000023.10:g.110555863A>G	(Likely) benign	1 lab	60ae885797
1:228461757 OBSCN G>A	1	228461757	228461757	G	A	OBSCN	c.6541+8G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228461757G>A	(Likely) benign	1 lab	60b4d1ab14
3:15686118 BTD A>G	3	15686118	15686118	A	G	BTD	c.695A>G	NM_001281723.3	NP_001268652.2:p.(Asp232Gly)	NC_000003.11:g.15686118A>G	VUS	1 lab	60b5f9ac32
17:26731959 MISSING G>C	17	26731959	26731959	G	C	MISSING				NC_000017.10:g.26731959G>C	(Likely) benign	1 lab	60b64e3016
15:93543907 CHD2 A>G	15	93543907	93543907	A	G	CHD2	c.4137+37A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93543907A>G	(Likely) benign	1 lab	60b86aea07
1:16256162 SPEN C>T	1	16256162	16256162	C	T	SPEN	c.3427C>T	NM_015001.3	NP_055816.2:p.(Arg1143Cys)	NC_000001.10:g.16256162C>T	(Likely) benign	1 lab	d03e2f06e0
5:156649955 ITK G>A	5	156649955	156649955	G	A	ITK	c.578G>A	NM_005546.3	NP_005537.3:p.(Arg193Gln)	NC_000005.9:g.156649955G>A	(Likely) benign	1 lab	60bf4d0cf6
11:111680441 ALG9 G>A	11	111680441	111680441	G	A	ALG9	c.1659C>T	NM_024740.2	NP_079016.2:p.(Pro553=)	NC_000011.9:g.111680441G>A	(Likely) benign	1 lab	60c2fcd169
11:101342125 TRPC6 A>G	11	101342125	101342125	A	G	TRPC6	c.2206-8T>C	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101342125A>G	(Likely) benign	1 lab	60d22b41f7
17:63533199 AXIN2 C>G	17	63533199	63533199	C	G	AXIN2	c.1713-18G>C	NM_004655.3	NP_004646.3:p.?	NC_000017.10:g.63533199C>G	(Likely) benign	1 lab	60d245221e
1:237838026 RYR2 T>C	1	237838026	237838026	T	C	RYR2	c.8715-5T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237838026T>C	(Likely) benign	1 lab	60d7a73ec2
1:223940635 CAPN2 C>T	1	223940635	223940635	C	T	CAPN2	c.1112C>T	NM_001748.5	NP_001739.3:p.(Ala371Val)	NC_000001.10:g.223940635C>T	(Likely) benign	1 lab	60d8ebcd87
2:109381525 RANBP2 A>G	2	109381525	109381525	A	G	RANBP2	c.4530A>G	NM_006267.4	NP_006258.3:p.(Leu1510=)	NC_000002.11:g.109381525A>G	(Likely) benign	1 lab	60daa9ff6a
9:135171367 SETX G>C	9	135171367	135171367	G	C	SETX	c.5998C>G	NM_001351527.1	NP_001338456.1:p.(Gln2000Glu)	NC_000009.11:g.135171367G>C	VUS	1 lab	60dfcc9876
2:143715192 KYNU A>G	2	143715192	143715192	A	G	KYNU	c.508-18A>G	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143715192A>G	(Likely) benign	1 lab	60e2f5270e
1:235878496 LYST C>A	1	235878496	235878496	C	A	LYST	c.9784+5G>T	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235878496C>A	(Likely) benign	1 lab	60e4b7aef2
8:68397203 CPA6 C>T	8	68397203	68397203	C	T	CPA6	c.637-179G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68397203C>T	(Likely) benign	1 lab	60e552e0cd
9:139262285 CARD9 C>T	9	139262285	139262285	C	T	CARD9	c.1078-5G>A	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139262285C>T	(Likely) benign	1 lab	60e7d8811a
2:47251422 TTC7A A>G	2	47251422	47251422	A	G	TTC7A	c.1569-4A>G	NM_001288951.2	NP_001275880.1:p.?	NC_000002.11:g.47251422A>G	(Likely) benign	1 lab	60e8e6605e
10:97959906 BLNK G>A	10	97959906	97959906	G	A	BLNK	c.1020C>T	NM_013314.3	NP_037446.1:p.(Gly340=)	NC_000010.10:g.97959906G>A	(Likely) benign	1 lab	60e9888b44
20:61981239 CHRNA4 G>A	20	61981239	61981239	G	A	CHRNA4	c.1524C>T	NM_000744.6	NP_000735.1:p.(Gly508=)	NC_000020.10:g.61981239G>A	(Likely) benign	1 lab	60ed56cac9
1:154543508 CHRNB2 T>C	1	154543508	154543508	T	C	CHRNB2	c.366-157T>C	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154543508T>C	(Likely) benign	1 lab	60ef43534d
8:68430322 CPA6 A>AG	8	68430322	68430329	A	AG	CPA6	c.193-41dup	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68430329dup	(Likely) benign	1 lab	60efc90294
1:43812255 MPL A>G	1	43812255	43812255	A	G	MPL	c.1120A>G	NM_005373.2	NP_005364.1:p.(Thr374Ala)	NC_000001.10:g.43812255A>G	(Likely) benign	1 lab	60f217cd30
13:39358840 FREM2 G>A	13	39358840	39358840	G	A	FREM2	c.5914G>A	NM_207361.6	NP_997244.4:p.(Glu1972Lys)	NC_000013.10:g.39358840G>A	(Likely) pathogenic	1 lab	60f2d66ca4
8:42166552 IKBKB G>GC	8	42166552	42166555	G	GC	IKBKB	c.692+12dup	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42166555dup	(Likely) benign	1 lab	61133e6805
2:179479354 TTN TCAGC>T	2	179479354	179479359	TCAGC	T	TTN	c.48883_48886del	NM_001267550.2	NP_001254479.2:p.(Ala16295IlefsTer2)	NC_000002.11:g.179479356_179479359del	(Likely) pathogenic	1 lab	60f794a760
19:7707441 STXBP2 C>T	19	7707441	7707441	C	T	STXBP2	c.935+19C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7707441C>T	(Likely) benign	1 lab	60f8e630bf
19:36336260 NPHS1 G>A	19	36336260	36336260	G	A	NPHS1	c.1930+10C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36336260G>A	(Likely) benign	1 lab	60fb6f4ed1
7:94051267 COL1A2 A>G	7	94051267	94051267	A	G	COL1A2	c.2403+3A>G	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94051267A>G	VUS	1 lab	60fe790f99
19:1621971 TCF3 T>TG	19	1621971	1621977	T	TG	TCF3	c.823-3dup	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1621977dup	(Likely) benign	1 lab	6103e751df
17:41243787 BRCA1 T>C	17	41243787	41243787	T	C	BRCA1	c.3761A>G	NM_007300.4	NP_009231.2:p.(Lys1254Arg)	NC_000017.10:g.41243787T>C	VUS	1 lab	6106a04ba2
X:66765155 AR TGCTGCAGCA>T	X	66765155	66765166	TGCTGCAGCA	T	AR	c.170_178del	NM_000044.6	NP_000035.2:p.(Leu57_Gln59del)	NC_000023.10:g.66765158_66765166del	(Likely) benign	1 lab	610ca921aa
X:53607776 HUWE1 G>A	X	53607776	53607776	G	A	HUWE1	c.5716+15C>T	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53607776G>A	(Likely) benign	1 lab	612d59c71a
3:128199958 GATA2 G>A	3	128199958	128199958	G	A	GATA2	c.1347C>T	NM_032638.4	NP_116027.2:p.(Ser449=)	NC_000003.11:g.128199958G>A	(Likely) benign	1 lab	610f7e0687
13:39424294 FREM2 C>T	13	39424294	39424294	C	T	FREM2	c.6499C>T	NM_207361.6	NP_997244.4:p.(Arg2167Trp)	NC_000013.10:g.39424294C>T	(Likely) pathogenic	1 lab	6110278bba
10:21104626 NEBL C>T	10	21104626	21104626	C	T	NEBL	c.2169G>A	NM_006393.2	NP_006384.1:p.(Leu723=)	NC_000010.10:g.21104626C>T	(Likely) benign	1 lab	6111cbbede
7:107432362 SLC26A3 C>T	7	107432362	107432362	C	T	SLC26A3	c.295G>A	NM_000111.2	NP_000102.1:p.(Asp99Asn)	NC_000007.13:g.107432362C>T	(Likely) benign	1 lab	61133f53c7
2:25384388 POMC C>G	2	25384388	25384388	C	G	POMC	c.366G>C	NM_001035256.2	NP_001030333.1:p.(Glu122Asp)	NC_000002.11:g.25384388C>G	(Likely) benign	1 lab	61182a26fe
16:2156544 PKD1 G>C	16	2156544	2156544	G	C	PKD1	c.7344C>G	NM_001009944.2	NP_001009944.2:p.(Leu2448=)	NC_000016.9:g.2156544G>C	VUS	1 lab	61185f5fcb
14:23898487 MYH7 C>G	14	23898487	23898487	C	G	MYH7	c.1208G>C	NM_000257.2	NP_000248.2:p.(Arg403Pro)	NC_000014.8:g.23898487C>G	(Likely) pathogenic	1 lab	611966bb01
16:69728024 NFAT5 G>A	16	69728024	69728024	G	A	NFAT5	c.4014G>A	NM_138714.4	NP_619728.2:p.(Ser1338=)	NC_000016.9:g.69728024G>A	(Likely) benign	1 lab	611e1fc5c9
8:116632409 TRPS1 GAA>G	8	116632409	116632422	GAA	G	TRPS1	c.38-124_38-123del	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116632421_116632422del	(Likely) benign	1 lab	61218ac2ad
2:179577628 TTN C>T	2	179577628	179577628	C	T	TTN	c.27124G>A	NM_001267550.1	NP_001254479.1:p.(Val9042Ile)	NC_000002.11:g.179577628C>T	(Likely) benign	1 lab	6128b9dd0a
15:59510221 MYO1E G>A	15	59510221	59510221	G	A	MYO1E	c.976C>T	NM_004998.3	NP_004989.2:p.(Arg326Trp)	NC_000015.9:g.59510221G>A	(Likely) benign	1 lab	61343a9132
16:4751035 ANKS3 T>C	16	4751035	4751035	T	C	ANKS3	c.1220A>G	NM_133450.4	NP_597707.1:p.(Asp407Gly)	NC_000016.9:g.4751035T>C	(Likely) benign	1 lab	61357e6d9f
9:2622146 VLDLR A>ACGG	9	2622146	2622171	A	ACGG	VLDLR	c.-21_-19dup	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2622169_2622171dup	(Likely) benign	1 lab	613dbd8c0e
13:51522081 RNASEH2B AT>A	13	51522081	51522093	AT	A	RNASEH2B	c.617-30del	NM_024570.4	NP_078846.2:p.?	NC_000013.10:g.51522093del	(Likely) benign	1 lab	613f9d6527
11:71906467 FOLR1 C>T	11	71906467	71906467	C	T	FOLR1	c.321C>T	NM_016725.3	NP_057937.1:p.(Tyr107=)	NC_000011.9:g.71906467C>T	(Likely) benign	1 lab	6143bf721a
16:3293258 MEFV G>A	16	3293258	3293258	G	A	MEFV	c.2229C>T	NM_000243.2	NP_000234.1:p.(Phe743=)	NC_000016.9:g.3293258G>A	(Likely) benign	1 lab	6156e6685f
17:43367980 MAP3K14 G>A	17	43367980	43367980	G	A	MAP3K14	c.132C>T	NM_003954.5	NP_003945.2:p.(Ala44=)	NC_000017.10:g.43367980G>A	(Likely) benign	1 lab	6157eaa517
3:14175327 TMEM43 C>G	3	14175327	14175327	C	G	TMEM43	c.583+18C>G	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14175327C>G	(Likely) benign	1 lab	6159b29336
15:59500961 MYO1E C>T	15	59500961	59500961	C	T	MYO1E	c.1449G>A	NM_004998.3	NP_004989.2:p.(Gln483=)	NC_000015.9:g.59500961C>T	(Likely) benign	1 lab	615a3526e8
11:6655021 DCHS1 T>C	11	6655021	6655021	T	C	DCHS1	c.2217A>G	NM_003737.4	NP_003728.1:p.(Ser739=)	NC_000011.9:g.6655021T>C	(Likely) benign	1 lab	615ad8b7a2
19:14854511 ADGRE2 G>A	19	14854511	14854511	G	A	ADGRE2	c.2269C>T	NM_013447.4	NP_038475.2:p.(Arg757Trp)	NC_000019.9:g.14854511G>A	(Likely) benign	1 lab	61609db3b4
3:168810877 MECOM C>T	3	168810877	168810877	C	T	MECOM	c.2469G>A	NM_001105078.4	NP_001098548.2:p.(Ser823=)	NC_000003.11:g.168810877C>T	(Likely) benign	1 lab	6160fefddd
2:179430958 TTN G>A	2	179430958	179430958	G	A	TTN	c.79901C>T	NM_001267550.2	NP_001254479.2:p.(Thr26634Ile)	NC_000002.11:g.179430958G>A	VUS	1 lab	d0497896d0
18:12377177 AFG3L2 C>G	18	12377177	12377177	C	G	AFG3L2	c.-96G>C	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12377177C>G	(Likely) benign	1 lab	6169c635c3
1:11861363 MTHFR C>G	1	11861363	11861363	C	G	MTHFR	c.330G>C	NM_005957.5	NP_005948.3:p.(Met110Ile)	NC_000001.10:g.11861363C>G	VUS	1 lab	d04beb2ba3
17:57126732 TRIM37 C>T	17	57126732	57126732	C	T	TRIM37	c.1337G>A	NM_015294.6	NP_056109.1:p.(Arg446Gln)	NC_000017.10:g.57126732C>T	VUS	1 lab	616a56b071
9:138649239 KCNT1 C>G	9	138649239	138649239	C	G	KCNT1	c.759+12C>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138649239C>G	(Likely) benign	1 lab	61782277c3
4:674336 MYL5 A>C	4	674336	674336	A	C	MYL5	c.331A>C	NM_002477.1	NP_002468.1:p.(Met111Leu)	NC_000004.11:g.674336A>C	(Likely) benign	1 lab	617ad8fa4a
17:39741296 KRT14 G>T	17	39741296	39741296	G	T	KRT14	c.539C>A	NM_000526.5	NP_000517.3:p.(Thr180Lys)	NC_000017.10:g.39741296G>T	VUS	1 lab	d04cce806b
2:211471671 CPS1 A>T	2	211471671	211471671	A	T	CPS1	c.2192+6A>T	NM_001122633.3	NP_001116105.2:p.?	NC_000002.11:g.211471671A>T	(Likely) benign	1 lab	617fafb8fa
20:30419954 MYLK2 A>T	20	30419954	30419954	A	T	MYLK2	c.1710+15A>T	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30419954A>T	(Likely) benign	1 lab	6181d3dbae
2:109367844 RANBP2 T>G	2	109367844	109367844	T	G	RANBP2	c.1398T>G	NM_006267.4	NP_006258.3:p.(His466Gln)	NC_000002.11:g.109367844T>G	(Likely) benign	1 lab	61832dfc4a
13:32969224 BRCA2 T>TG	13	32969224	32969229	T	TG	BRCA2	c.9501+159dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32969229dup	(Likely) benign	1 lab	61832e7f3c
3:132400834 NPHP3 G>A	3	132400834	132400834	G	A	NPHP3	c.3913C>T	NM_153240.5	NP_694972.3:p.(Arg1305Cys)	NC_000003.11:g.132400834G>A	(Likely) benign	1 lab	618940b1ba
15:51039784 SPPL2A C>T	15	51039784	51039784	C	T	SPPL2A	c.492G>A	NM_032802.4	NP_116191.2:p.(Ser164=)	NC_000015.9:g.51039784C>T	(Likely) benign	1 lab	618c8f0b82
16:1204046 CACNA1H CCGGCCGG>C	16	1204046	1204056	CCGGCCGG	C	CACNA1H	c.299+14_299+20del	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1204050_1204056del	(Likely) benign	1 lab	618f1e3742
12:110024559 MVK G>C	12	110024559	110024559	G	C	MVK	c.632G>C	NM_000431.2	NP_000422.1:p.(Gly211Ala)	NC_000012.11:g.110024559G>C	(Likely) pathogenic	1 lab	619326e8e5
1:228464255 OBSCN T>C	1	228464255	228464255	T	C	OBSCN	c.7450T>C	NM_001271223.2	NP_001258152.2:p.(Trp2484Arg)	NC_000001.10:g.228464255T>C	(Likely) benign	1 lab	6194fcd82b
16:3293592 MEFV C>G	16	3293592	3293592	C	G	MEFV	c.1895G>C	NM_000243.2	NP_000234.1:p.(Gly632Ala)	NC_000016.9:g.3293592C>G	VUS	1 lab	6196a8840a
12:110236729 TRPV4 G>A	12	110236729	110236729	G	A	TRPV4	c.854-12C>T	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110236729G>A	(Likely) benign	1 lab	6196edadaf
3:190106071 CLDN16 AG>A	3	190106071	190106074	AG	A	CLDN16	c.-45del	NM_006580.4	NP_006571.2:p.?	NC_000003.11:g.190106074del	(Likely) benign	1 lab	6197ac4a8e
1:24020279 RPL11 G>C	1	24020279	24020279	G	C	RPL11	c.158-18G>C	NM_000975.5	NP_000966.2:p.?	NC_000001.10:g.24020279G>C	(Likely) benign	1 lab	6198d558b6
1:66075969 LEPR T>C	1	66075969	66075969	T	C	LEPR	c.1985T>C	NM_002303.5	NP_002294.2:p.(Leu662Ser)	NC_000001.10:g.66075969T>C	(Likely) pathogenic	1 lab	61a05e2e4c
X:154176029 F8 G>T	X	154176029	154176029	G	T	F8	c.2057C>A	NM_000132.3	NP_000123.1:p.(Thr686Lys)	NC_000023.10:g.154176029G>T	VUS	1 lab	61a0629064
10:13217560 MCM10 C>G	10	13217560	13217560	C	G	MCM10	c.646C>G	NM_182751.3	NP_877428.1:p.(Gln216Glu)	NC_000010.10:g.13217560C>G	(Likely) benign	1 lab	61a17ea50e
2:166848363 SCN1A A>G	2	166848363	166848363	A	G	SCN1A	c.5422T>C	NM_001165963.3	NP_001159435.1:p.(Phe1808Leu)	NC_000002.11:g.166848363A>G	(Likely) pathogenic	1 lab	61a1cf5cc5
16:3304235 MEFV C>G	16	3304235	3304235	C	G	MEFV	c.833G>C	NM_000243.2	NP_000234.1:p.(Arg278Pro)	NC_000016.9:g.3304235C>G	VUS	1 lab	61a62be770
11:118925739 HYOU1 G>A	11	118925739	118925739	G	A	HYOU1	c.453C>T	NM_006389.5	NP_006380.1:p.(Gly151=)	NC_000011.9:g.118925739G>A	(Likely) benign	1 lab	61a9bc039a
14:55429902 WDHD1 AG>A	14	55429902	55429916	AG	A	WDHD1	c.2311-13del	NM_007086.4	NP_009017.1:p.?	NC_000014.8:g.55429916del	(Likely) benign	1 lab	61ab659ab9
2:220116890 TUBA4A C>T	2	220116890	220116890	C	T	TUBA4A	c.66G>A	NM_006000.3	NP_005991.1:p.(Glu22=)	NC_000002.11:g.220116890C>T	(Likely) benign	1 lab	61af1f9a6a
17:48155640 ITGA3 G>T	17	48155640	48155640	G	T	ITGA3	c.2289G>T	NM_002204.4	NP_002195.1:p.(Ser763=)	NC_000017.10:g.48155640G>T	(Likely) benign	1 lab	61b18d3048
11:2608845 KCNQ1 T>C	11	2608845	2608845	T	C	KCNQ1	c.1174T>C	NM_000218.2	NP_000209.2:p.(Trp392Arg)	NC_000011.9:g.2608845T>C	(Likely) pathogenic	1 lab	61b35ba673
19:13318895 CACNA1A CA>C	19	13318895	13318904	CA	C	CACNA1A	c.6781-29del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13318904del	(Likely) benign	1 lab	61b3ab6612
1:1959757 GABRD G>A	1	1959757	1959757	G	A	GABRD	c.691+26G>A	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1959757G>A	(Likely) benign	1 lab	61c465c736
12:110013890 MVK A>G	12	110013890	110013890	A	G	MVK	c.166A>G	NM_000431.2	NP_000422.1:p.(Ile56Val)	NC_000012.11:g.110013890A>G	(Likely) benign	1 lab	61c8cc84ec
6:152621818 SYNE1 G>A	6	152621818	152621818	G	A	SYNE1	c.17640C>T	NM_182961.4	NP_892006.3:p.(Arg5880=)	NC_000006.11:g.152621818G>A	(Likely) benign	1 lab	61c95d3154
3:53839116 CACNA1D G>A	3	53839116	53839116	G	A	CACNA1D	c.5752G>A	NM_000720.4	NP_000711.1:p.(Val1918Ile)	NC_000003.11:g.53839116G>A	(Likely) benign	1 lab	61cf2196cc
3:184071884 CLCN2 C>T	3	184071884	184071884	C	T	CLCN2	c.1721+5G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184071884C>T	(Likely) benign	1 lab	61d0e333ae
X:32361411 DMD T>G	X	32361411	32361411	T	G	DMD	c.5218-8A>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32361411T>G	(Likely) benign	1 lab	61d2b03556
12:120150146 CIT G>T	12	120150146	120150146	G	T	CIT	c.4691C>A	NM_001206999.2	NP_001193928.1:p.(Pro1564Gln)	NC_000012.11:g.120150146G>T	VUS	1 lab	d051ee0098
20:31998067 SNTA1 C>G	20	31998067	31998067	C	G	SNTA1	c.1111G>C	NM_003098.2	NP_003089.1:p.(Gly371Arg)	NC_000020.10:g.31998067C>G	VUS	1 lab	61e31b0c2b
9:130587972 ENG A>G	9	130587972	130587972	A	G	ENG	c.689+2T>C	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130587972A>G	(Likely) pathogenic	1 lab	61e699bd20
12:111652019 CUX2 G>T	12	111652019	111652019	G	T	CUX2	c.79G>T	NM_015267.4	NP_056082.2:p.(Val27Phe)	NC_000012.11:g.111652019G>T	(Likely) benign	1 lab	d054a0b430
5:37162449 CPLANE1 A>G	5	37162449	37162449	A	G	CPLANE1	c.7690+118T>C	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37162449A>G	(Likely) benign	1 lab	61eb46c07e
18:56348581 MALT1 C>T	18	56348581	56348581	C	T	MALT1	c.376+13C>T	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56348581C>T	(Likely) benign	1 lab	61ebb5d70e
22:32150743 DEPDC5 A>G	22	32150743	32150743	A	G	DEPDC5	c.-60-105A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32150743A>G	(Likely) benign	1 lab	61edb0d0b4
8:41583215 ANK1 C>T	8	41583215	41583215	C	T	ANK1	c.612+64G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41583215C>T	(Likely) benign	1 lab	61f191fb8f
1:206944418 IL10 C>A	1	206944418	206944418	C	A	IL10	c.226-14G>T	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944418C>A	(Likely) benign	1 lab	61fa44ac72
17:42463006 ITGA2B A>G	17	42463006	42463006	A	G	ITGA2B	c.487T>C	NM_000419.3	NP_000410.2:p.(Leu163=)	NC_000017.10:g.42463006A>G	(Likely) benign	1 lab	6202cefe2a
16:2161437 PKD1 G>A	16	2161437	2161437	G	A	PKD1	c.3731C>T	NM_001009944.2	NP_001009944.2:p.(Thr1244Ile)	NC_000016.9:g.2161437G>A	(Likely) benign	1 lab	620379c543
6:151726371 RMND1 C>G	6	151726371	151726371	C	G	RMND1	c.1349G>C	NM_017909.4	NP_060379.2:p.(Ter450SerextTer31)	NC_000006.11:g.151726371C>G	(Likely) pathogenic	1 lab	62072c5cf4
X:152845747 ATP2B3 G>GC	X	152845747	152845748	G	GC	ATP2B3	c.3654_3655insC	NM_001001344.2	NP_001001344.1:p.(Ser1219LeufsTer74)	NC_000023.10:g.152845747_152845748insC	VUS	1 lab	d056f6f155
4:187629583 FAT1 C>A	4	187629583	187629583	C	A	FAT1	c.1399G>T	NM_005245.4	NP_005236.2:p.(Ala467Ser)	NC_000004.11:g.187629583C>A	(Likely) benign	1 lab	620d27d9ee
2:25990560 ASXL2 C>T	2	25990560	25990560	C	T	ASXL2	c.667G>A	NM_018263.6	NP_060733.4:p.(Gly223Ser)	NC_000002.11:g.25990560C>T	(Likely) benign	1 lab	d05ade52b6
1:158988224 IFI16 A>G	1	158988224	158988224	A	G	IFI16	c.587A>G	NM_001206567.2	NP_001193496.1:p.(Lys196Arg)	NC_000001.10:g.158988224A>G	VUS	1 lab	6218be22de
2:189918668 COL5A2 G>C	2	189918668	189918668	G	C	COL5A2	c.2452C>G	NM_000393.5	NP_000384.2:p.(Pro818Ala)	NC_000002.11:g.189918668G>C	VUS	1 lab	6219c2e724
11:6630943 ILK G>A	11	6630943	6630943	G	A	ILK	c.857-12G>A	NM_001014795.3	NP_001014795.1:p.?	NC_000011.9:g.6630943G>A	(Likely) benign	1 lab	621a001cae
13:32912306 BRCA2 A>G	13	32912306	32912306	A	G	BRCA2	c.3814A>G	NM_000059.3	NP_000050.2:p.(Met1272Val)	NC_000013.10:g.32912306A>G	(Likely) benign	1 lab	62212c87f3
5:161318123 GABRA1 A>G	5	161318123	161318123	A	G	GABRA1	c.856+67A>G	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161318123A>G	(Likely) benign	1 lab	6221ee1978
9:138676338 KCNT1 T>C	9	138676338	138676338	T	C	KCNT1	c.2944-43T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676338T>C	(Likely) benign	1 lab	622ee781c6
1:9782284 PIK3CD C>T	1	9782284	9782284	C	T	PIK3CD	c.2235-18C>T	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9782284C>T	(Likely) benign	1 lab	6231eb9c4f
3:4732920 ITPR1 C>T	3	4732920	4732920	C	T	ITPR1	c.3876C>T	NM_001168272.1	NP_001161744.1:p.(His1292=)	NC_000003.11:g.4732920C>T	(Likely) benign	1 lab	6231f62ca5
11:124757299 ROBO4 G>A	11	124757299	124757299	G	A	ROBO4	c.2153C>T	NM_019055.6	NP_061928.4:p.(Pro718Leu)	NC_000011.9:g.124757299G>A	(Likely) benign	1 lab	623ac815d2
2:179631299 TTN T>C	2	179631299	179631299	T	C	TTN	c.9374A>G	NM_133432.3	NP_597676.3:p.(Asn3125Ser)	NC_000002.11:g.179631299T>C	(Likely) benign	1 lab	6244ffbafc
11:47861587 NUP160 T>C	11	47861587	47861587	T	C	NUP160	c.556A>G	NM_015231.2	NP_056046.1:p.(Ile186Val)	NC_000011.9:g.47861587T>C	(Likely) benign	1 lab	6248b95147
21:17199370 USP25 C>T	21	17199370	17199370	C	T	USP25	c.1541C>T	NM_001283041.2	NP_001269970.1:p.(Ser514Leu)	NC_000021.8:g.17199370C>T	(Likely) benign	1 lab	6249989584
2:227924114 COL4A4 C>T	2	227924114	227924114	C	T	COL4A4	c.2383+7G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924114C>T	(Likely) benign	1 lab	624c0f0857
1:206941864 IL10 A>G	1	206941864	206941864	A	G	IL10	c.*117T>C	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206941864A>G	(Likely) benign	1 lab	6309d439cf
5:169081398 DOCK2 G>A	5	169081398	169081398	G	A	DOCK2	c.44-9G>A	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169081398G>A	(Likely) benign	1 lab	6254c3de82
16:2159357 PKD1 G>C	16	2159357	2159357	G	C	PKD1	c.5811C>G	NM_001009944.2	NP_001009944.2:p.(Ser1937=)	NC_000016.9:g.2159357G>C	(Likely) benign	1 lab	625eb57034
12:110029066 MVK C>A	12	110029066	110029066	C	A	MVK	c.789C>A	NM_000431.2	NP_000422.1:p.(Pro263=)	NC_000012.11:g.110029066C>A	(Likely) benign	1 lab	625ed9c859
7:143043607 CLCN1 G>C	7	143043607	143043607	G	C	CLCN1	c.2285-65G>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043607G>C	(Likely) benign	1 lab	625f25772f
10:17110587 CUBN AGGGAACAG>A	10	17110587	17110595	AGGGAACAG	A	CUBN	c.2791+9_2791+16del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17110588_17110595del	(Likely) benign	1 lab	6267ccf2b6
14:65249066 SPTB C>T	14	65249066	65249066	C	T	SPTB	c.4208G>A	NM_001024858.3	NP_001020029.1:p.(Arg1403Gln)	NC_000014.8:g.65249066C>T	(Likely) benign	1 lab	6267ef63d3
17:48165096 ITGA3 T>C	17	48165096	48165096	T	C	ITGA3	c.2920-12T>C	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48165096T>C	(Likely) benign	1 lab	62691cbd88
1:115226988 AMPD1 GC>G	1	115226988	115226990	GC	G	AMPD1	c.382-4del	NM_000036.3	NP_000027.3:p.?	NC_000001.10:g.115226990del	(Likely) benign	1 lab	626ad0ca81
15:93558309 CHD2 T>A	15	93558309	93558309	T	A	CHD2	c.4906+170T>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93558309T>A	(Likely) benign	1 lab	626c4dec69
15:73614974 HCN4 G>A	15	73614974	73614974	G	A	HCN4	c.3460C>T	NM_005477.3	NP_005468.1:p.(Arg1154Trp)	NC_000015.9:g.73614974G>A	VUS	1 lab	627439023c
15:67073593 SMAD6 A>G	15	67073593	67073593	A	G	SMAD6	c.1211A>G	NM_005585.5	NP_005576.3:p.(Asn404Ser)	NC_000015.9:g.67073593A>G	VUS	1 lab	627440b3b0
16:3632559 SLX4 C>T	16	3632559	3632559	C	T	SLX4	c.5289G>A	NM_032444.2	NP_115820.2:p.(Lys1763=)	NC_000016.9:g.3632559C>T	(Likely) benign	1 lab	6274e23804
8:61773527 CHD7 C>T	8	61773527	61773527	C	T	CHD7				NC_000008.10:g.61773527C>T	VUS	1 lab	62777d8be4
19:1399955 GAMT G>A	19	1399955	1399955	G	A	GAMT	c.182-18C>T	NM_000156.6	NP_000147.1:p.?	NC_000019.9:g.1399955G>A	(Likely) benign	1 lab	631ad93382
2:128431254 LIMS2 C>CCA	2	128431254	128431257	C	CCA	LIMS2	c.73_74dup	NM_001136037.3	NP_001129509.2:p.(Trp25CysfsTer90)	NC_000002.11:g.128431256_128431257dup	VUS	1 lab	6279863e99
20:62073783 KCNQ2 G>T	20	62073783	62073783	G	T	KCNQ2	c.792C>A	NM_172107.4	NP_742105.1:p.(Tyr264Ter)	NC_000020.10:g.62073783G>T	(Likely) pathogenic	1 lab	627e654478
13:23907724 SACS C>G	13	23907724	23907724	C	G	SACS	c.10291G>C	NM_014363.6	NP_055178.3:p.(Val3431Leu)	NC_000013.10:g.23907724C>G	(Likely) benign	1 lab	62832d3d84
7:117230471 CFTR A>T	7	117230471	117230471	A	T	CFTR	c.1744A>T	NM_000492.4	NP_000483.3:p.(Thr582Ser)	NC_000007.13:g.117230471A>T	VUS	1 lab	d05f17325d
12:49434717 KMT2D C>T	12	49434717	49434717	C	T	KMT2D	c.6836G>A	NM_003482.3	NP_003473.3:p.(Gly2279Glu)	NC_000012.11:g.49434717C>T	(Likely) benign	1 lab	62866c1723
6:33608242 ITPR3 G>A	6	33608242	33608242	G	A	ITPR3	c.90-19G>A	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33608242G>A	(Likely) benign	1 lab	628e5dfc3a
19:41206031 COQ8B G>A	19	41206031	41206031	G	A	COQ8B	c.1084C>T	NM_024876.4	NP_079152.3:p.(Arg362Ter)	NC_000019.9:g.41206031G>A	(Likely) pathogenic	1 lab	628fe498eb
1:228496066 OBSCN G>T	1	228496066	228496066	G	T	OBSCN	c.12721G>T	NM_001098623.2	NP_001092093.2:p.(Ala4241Ser)	NC_000001.10:g.228496066G>T	(Likely) benign	1 lab	6291b8f96b
10:124810704 ACADSB T>TA	10	124810704	124810728	T	TA	ACADSB	c.1128+26dup	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124810728dup	(Likely) benign	1 lab	629288c379
10:89721094 PTEN C>T	10	89721094	89721094	C	T	PTEN	c.1026+219C>T	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89721094C>T	(Likely) benign	1 lab	6294163c07
2:25384587 POMC G>T	2	25384587	25384587	G	T	POMC	c.167C>A	NM_001035256.2	NP_001030333.1:p.(Ala56Asp)	NC_000002.11:g.25384587G>T	(Likely) benign	1 lab	62971ebdca
10:71658478 COL13A1 G>A	10	71658478	71658478	G	A	COL13A1	c.740G>A	NM_001130103.2	NP_001123575.1:p.(Arg247Gln)	NC_000010.10:g.71658478G>A	(Likely) benign	1 lab	629ef9ee4d
5:161300135 GABRA1 G>C	5	161300135	161300135	G	C	GABRA1	c.268G>C	NM_000806.5	NP_000797.2:p.(Asp90His)	NC_000005.9:g.161300135G>C	(Likely) pathogenic	1 lab	62a149e9ff
2:202619288 ALS2 T>C	2	202619288	202619288	T	C	ALS2	c.1578A>G	NM_020919.4	NP_065970.2:p.(Thr526=)	NC_000002.11:g.202619288T>C	(Likely) benign	1 lab	62a2c88c7b
6:152489328 SYNE1 C>T	6	152489328	152489328	C	T	SYNE1	c.12G>A	NM_001347702.1	NP_001334631.1:p.(Ala4=)	NC_000006.11:g.152489328C>T	(Likely) benign	1 lab	62a2c946ed
1:235967794 LYST T>C	1	235967794	235967794	T	C	LYST	c.3555+10A>G	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235967794T>C	(Likely) benign	1 lab	62a5e73b58
2:149215764 MBD5 T>C	2	149215764	149215764	T	C	MBD5	c.-556-8T>C	NM_018328.4	NP_060798.2:p.?	NC_000002.11:g.149215764T>C	(Likely) benign	1 lab	62a7595a9f
4:6602396 MAN2B2 C>A	4	6602396	6602396	C	A	MAN2B2	c.1452C>A	NM_015274.3	NP_056089.1:p.(Ala484=)	NC_000004.11:g.6602396C>A	(Likely) benign	1 lab	62aa74d07e
3:186302391 DNAJB11 A>ATTGTGT	3	186302391	186302392	A	ATTGTGT	DNAJB11	c.1012+13_1012+14insTTGTGT	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391_186302392insTTGTGT	(Likely) benign	1 lab	62aaa19352
16:81960658 PLCG2 G>C	16	81960658	81960658	G	C	PLCG2	c.2418-29G>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81960658G>C	(Likely) benign	1 lab	62aee6917d
15:93515485 CHD2 A>G	15	93515485	93515485	A	G	CHD2	c.2353-10A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93515485A>G	(Likely) benign	1 lab	62b73543f4
9:138594252 KCNT1 C>T	9	138594252	138594252	C	T	KCNT1	c.110+38C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138594252C>T	(Likely) benign	1 lab	62c13c2e7f
3:190030679 CLDN1 C>T	3	190030679	190030679	C	T	CLDN1	c.370G>A	NM_021101.5	NP_066924.1:p.(Ala124Thr)	NC_000003.11:g.190030679C>T	(Likely) benign	1 lab	62c7052f8e
17:40489799 STAT3 C>T	17	40489799	40489799	C	T	STAT3	c.627G>A	NM_139276.2	NP_644805.1:p.(Ala209=)	NC_000017.10:g.40489799C>T	(Likely) benign	1 lab	62c89fe873
13:32910922 BRCA2 CA>C	13	32910922	32910927	CA	C	BRCA2	c.2435del	NM_000059.4	NP_000050.3:p.(Asn812IlefsTer13)	NC_000013.10:g.32910927del	(Likely) pathogenic	1 lab	62c9ab3d64
17:19559770 ALDH3A2 C>T	17	19559770	19559770	C	T	ALDH3A2	c.563C>T	NM_000382.3	NP_000373.1:p.(Ala188Val)	NC_000017.10:g.19559770C>T	(Likely) benign	1 lab	62cb9ec649
3:81643104 GBE1 G>A	3	81643104	81643104	G	A	GBE1	c.1063C>T	NM_000158.3	NP_000149.3:p.(Arg355Cys)	NC_000003.11:g.81643104G>A	(Likely) pathogenic	1 lab	62d439d135
12:863309 WNK1 C>A	12	863309	863309	C	A	WNK1	c.578C>A	NM_001184985.1	NP_001171914.1:p.(Pro193Gln)	NC_000012.11:g.863309C>A	(Likely) benign	1 lab	62d84e0b83
1:247600301 NLRP3 A>C	1	247600301	247600301	A	C	NLRP3	c.2663+859A>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247600301A>C	(Likely) benign	1 lab	62d8e86757
14:102511064 DYNC1H1 AGGGTGGGTGGCGAGGGTCCCCTCACGCG>A	14	102511064	102511113	AGGGTGGGTGGCGAGGGTCCCCTCACGCG	A	DYNC1H1	c.13006+51_13006+78del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102511086_102511113del	(Likely) benign	1 lab	62db2aa211
1:206944419 IL10 C>A	1	206944419	206944419	C	A	IL10	c.226-15G>T	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944419C>A	(Likely) benign	1 lab	62de99d688
20:60902962 LAMA5 G>A	20	60902962	60902962	G	A	LAMA5	c.4757C>T	NM_005560.4	NP_005551.3:p.(Pro1586Leu)	NC_000020.10:g.60902962G>A	(Likely) benign	1 lab	62e2c9b60a
12:6442960 TNFRSF1A A>C	12	6442960	6442960	A	C	TNFRSF1A	c.265T>G	NM_001065.3	NP_001056.1:p.(Phe89Val)	NC_000012.11:g.6442960A>C	(Likely) pathogenic	1 lab	62e48175ef
2:200137318 SATB2 C>A	2	200137318	200137318	C	A	SATB2	c.1818G>T	NM_001172509.2	NP_001165980.1:p.(Pro606=)	NC_000002.11:g.200137318C>A	(Likely) benign	1 lab	62eafa54fc
X:153297770 MECP2 G>A	X	153297770	153297770	G	A	MECP2	c.265C>T	NM_004992.3	NP_004983.1:p.(Arg89Cys)	NC_000023.10:g.153297770G>A	(Likely) pathogenic	1 lab	62eccfe387
15:51828636 DMXL2 A>C	15	51828636	51828636	A	C	DMXL2				NC_000015.9:g.51828636A>C	(Likely) benign	1 lab	62ee58aaf1
X:154091427 F8 G>A	X	154091427	154091427	G	A	F8	c.6505C>T	NM_000132.3	NP_000123.1:p.(Arg2169Cys)	NC_000023.10:g.154091427G>A	(Likely) pathogenic	1 lab	62f087b435
1:11105539 MASP2 T>C	1	11105539	11105539	T	C	MASP2	c.470A>G	NM_006610.4	NP_006601.2:p.(His157Arg)	NC_000001.10:g.11105539T>C	(Likely) benign	1 lab	62f0ebee53
11:32439038 WT1 T>C	11	32439038	32439038	T	C	WT1				NC_000011.9:g.32439038T>C	(Likely) benign	1 lab	62f480713e
9:6587057 GLDC G>C	9	6587057	6587057	G	C	GLDC	c.1850+84C>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6587057G>C	(Likely) benign	1 lab	62f615e616
16:79245651 WWOX C>T	16	79245651	79245651	C	T	WWOX	c.1203C>T	NM_016373.4	NP_057457.1:p.(Ser401=)	NC_000016.9:g.79245651C>T	(Likely) benign	1 lab	62f73d2b30
10:17130364 CUBN T>C	10	17130364	17130364	T	C	CUBN	c.1766-20A>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17130364T>C	(Likely) benign	1 lab	62f800748c
17:61557689 ACE C>T	17	61557689	61557689	C	T	ACE	c.656-9C>T	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61557689C>T	(Likely) benign	1 lab	62fa2a7ea1
2:179412184 TTN C>T	2	179412184	179412184	C	T	TTN	c.67349G>A	NM_133432.3	NP_597676.3:p.(Gly22450Asp)	NC_000002.11:g.179412184C>T	VUS	1 lab	6300cae362
20:10412326 MKKS A>C	20	10412326	10412326	A	C	MKKS	c.-649+6T>G	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10412326A>C	(Likely) benign	1 lab	63028958bf
1:22150828 HSPG2 G>A	1	22150828	22150828	G	A	HSPG2	c.12786C>T	NM_005529.6	NP_005520.4:p.(Leu4262=)	NC_000001.10:g.22150828G>A	(Likely) benign	1 lab	6302d32fb9
14:74761914 ABCD4 A>C	14	74761914	74761914	A	C	ABCD4	c.669-13T>G	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74761914A>C	(Likely) benign	1 lab	63055c5538
8:61777853 CHD7 C>T	8	61777853	61777853	C	T	CHD7				NC_000008.10:g.61777853C>T	(Likely) benign	1 lab	6307efc9ba
4:5755601 EVC G>A	4	5755601	5755601	G	A	EVC	c.1405G>A	NM_153717.3	NP_714928.1:p.(Glu469Lys)	NC_000004.11:g.5755601G>A	(Likely) benign	1 lab	63154e6153
X:18915320 PHKA2 G>A	X	18915320	18915320	G	A	PHKA2	c.3243C>T	NM_000292.3	NP_000283.1:p.(Pro1081=)	NC_000023.10:g.18915320G>A	(Likely) benign	1 lab	63164ec56c
19:1619308 TCF3 C>A	19	1619308	1619308	C	A	TCF3	c.1326+7G>T	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619308C>A	(Likely) benign	1 lab	631c9c51be
11:118175509 CD3E A>G	11	118175509	118175509	A	G	CD3E	c.-60+18A>G	NM_000733.3	NP_000724.1:p.?	NC_000011.9:g.118175509A>G	(Likely) benign	1 lab	6321222631
12:110023863 MVK G>A	12	110023863	110023863	G	A	MVK	c.564G>A	NM_000431.2	NP_000422.1:p.(Trp188Ter)	NC_000012.11:g.110023863G>A	(Likely) pathogenic	1 lab	6327992928
X:123041043 XIAP A>G	X	123041043	123041043	A	G	XIAP	c.*12A>G	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123041043A>G	(Likely) benign	1 lab	632acbba3d
16:3299468 MEFV C>A	16	3299468	3299468	C	A	MEFV	c.1223G>T	NM_000243.2	NP_000234.1:p.(Arg408Leu)	NC_000016.9:g.3299468C>A	(Likely) benign	1 lab	632ae8fdc9
4:79199938 FRAS1 A>T	4	79199938	79199938	A	T	FRAS1	c.1071+40A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79199938A>T	(Likely) benign	1 lab	633348cd61
17:72832136 SLC38A12 G>A	17	72832136	72832136	G	A	SLC38A12	c.801G>A	NM_017728.4	NP_060198.3:p.(Leu267=)	NC_000017.10:g.72832136G>A	(Likely) benign	1 lab	6333d56c8d
3:184935908 EHHADH A>C	3	184935908	184935908	A	C	EHHADH	c.280+16T>G	NM_001166415.2	NP_001159887.1:p.?	NC_000003.11:g.184935908A>C	(Likely) benign	1 lab	6334475af1
3:195785143 TFRC G>A	3	195785143	195785143	G	A	TFRC	c.1677+12C>T	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195785143G>A	(Likely) benign	1 lab	6335009cae
3:53223210 PRKCD C>T	3	53223210	53223210	C	T	PRKCD	c.1691C>T	NM_006254.4	NP_006245.2:p.(Thr564Met)	NC_000003.11:g.53223210C>T	(Likely) benign	1 lab	63360b18ad
10:95537193 LGI1 A>G	10	95537193	95537193	A	G	LGI1	c.345A>G	NM_005097.3	NP_005088.1:p.(Pro115=)	NC_000010.10:g.95537193A>G	(Likely) benign	1 lab	633e797381
2:179566038 TTN C>T	2	179566038	179566038	C	T	TTN	c.13657+36771G>A	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179566038C>T	(Likely) benign	1 lab	6343d50aa2
17:76113447 TMC6 CGGGCAGGGCCCA>C	17	76113447	76113463	CGGGCAGGGCCCA	C	TMC6	c.2199-31_2199-20del	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76113452_76113463del	(Likely) benign	1 lab	634750d48d
21:34805195 IFNGR2 C>CT	21	34805195	34805196	C	CT	IFNGR2	c.879+18dup	NM_005534.3	NP_005525.2:p.?	NC_000021.8:g.34805196dup	(Likely) benign	1 lab	634baf40ee
8:100479794 VPS13B C>T	8	100479794	100479794	C	T	VPS13B	c.3598C>T	NM_017890.4	NP_060360.3:p.(Arg1200Ter)	NC_000008.10:g.100479794C>T	(Likely) pathogenic	1 lab	63549b8610
6:32944333 BRD2 C>T	6	32944333	32944333	C	T	BRD2	c.826-6C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32944333C>T	(Likely) benign	1 lab	6359b83f6c
2:109368071 RANBP2 C>T	2	109368071	109368071	C	T	RANBP2	c.1543C>T	NM_006267.4	NP_006258.3:p.(Leu515=)	NC_000002.11:g.109368071C>T	(Likely) benign	1 lab	6359d28a41
X:133594369 HPRT1 G>A	X	133594369	133594369	G	A	HPRT1	c.27+1G>A	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133594369G>A	(Likely) pathogenic	1 lab	635c6a3c27
22:37334211 CSF2RB T>C	22	37334211	37334211	T	C	CSF2RB	c.2361T>C	NM_000395.3	NP_000386.1:p.(Pro787=)	NC_000022.10:g.37334211T>C	(Likely) benign	1 lab	635cbdf01f
9:14776140 FREM1 C>T	9	14776140	14776140	C	T	FREM1	c.4504G>A	NM_144966.5	NP_659403.4:p.(Val1502Met)	NC_000009.11:g.14776140C>T	(Likely) benign	1 lab	635da881f0
2:27303754 EMILIN1 C>A	2	27303754	27303754	C	A	EMILIN1	c.445C>A	NM_007046.4	NP_008977.1:p.(Arg149=)	NC_000002.11:g.27303754C>A	(Likely) benign	1 lab	6361ee207f
2:179476821 TTN C>T	2	179476821	179476821	C	T	TTN	c.50317G>A	NM_001267550.1	NP_001254479.1:p.(Glu16773Lys)	NC_000002.11:g.179476821C>T	VUS	1 lab	636562284d
X:123505165 SH2D1A GTTTAT>G	X	123505165	123505173	GTTTAT	G	SH2D1A	c.347-32_347-28del	NM_002351.5	NP_002342.1:p.?	NC_000023.10:g.123505169_123505173del	(Likely) benign	1 lab	63669df7a7
X:154065961 F8 G>C	X	154065961	154065961	G	C	F8	c.6967C>G	NM_000132.3	NP_000123.1:p.(Arg2323Gly)	NC_000023.10:g.154065961G>C	(Likely) pathogenic	1 lab	6367703814
11:68560780 CPT1A C>T	11	68560780	68560780	C	T	CPT1A	c.967+3G>A	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68560780C>T	(Likely) benign	1 lab	636be80970
9:137703360 COL5A1 C>T	9	137703360	137703360	C	T	COL5A1	c.3605C>T	NM_000093.4	NP_000084.3:p.(Pro1202Leu)	NC_000009.11:g.137703360C>T	VUS	1 lab	636c1b3e21
4:103505826 NFKB1 T>A	4	103505826	103505826	T	A	NFKB1	c.928-13T>A	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103505826T>A	(Likely) benign	1 lab	63709fbbb5
1:33478920 AK2 G>A	1	33478920	33478920	G	A	AK2				NC_000001.10:g.33478920G>A	(Likely) benign	1 lab	6370b095ad
20:45358141 SLC2A10 A>T	20	45358141	45358141	A	T	SLC2A10	c.1547+14A>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45358141A>T	(Likely) benign	1 lab	6371239cab
6:32012897 TNXB C>T	6	32012897	32012897	C	T	TNXB	c.10807G>A	NM_019105.8	NP_061978.6:p.(Asp3603Asn)	NC_000006.11:g.32012897C>T	(Likely) benign	1 lab	6372c0fe4c
11:6648242 DCHS1 C>T	11	6648242	6648242	C	T	DCHS1	c.6028G>A	NM_003737.4	NP_003728.1:p.(Gly2010Ser)	NC_000011.9:g.6648242C>T	VUS	1 lab	d061e355b0
1:235972610 LYST C>T	1	235972610	235972610	C	T	LYST	c.1508G>A	NM_000081.3	NP_000072.2:p.(Arg503Gln)	NC_000001.10:g.235972610C>T	(Likely) benign	1 lab	637db717ce
2:179636073 TTN G>A	2	179636073	179636073	G	A	TTN	c.7981C>T	NM_001267550.1	NP_001254479.1:p.(Leu2661=)	NC_000002.11:g.179636073G>A	(Likely) benign	1 lab	637f43b456
3:64587656 ADAMTS9 G>A	3	64587656	64587656	G	A	ADAMTS9	c.3981C>T	NM_182920.2	NP_891550.1:p.(Leu1327=)	NC_000003.11:g.64587656G>A	(Likely) benign	1 lab	6384eb8578
20:60908497 LAMA5 G>A	20	60908497	60908497	G	A	LAMA5	c.3062C>T	NM_005560.4	NP_005551.3:p.(Ala1021Val)	NC_000020.10:g.60908497G>A	(Likely) benign	1 lab	63853b0666
2:227976331 COL4A4 A>G	2	227976331	227976331	A	G	COL4A4	c.594+63T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227976331A>G	(Likely) benign	1 lab	63880a1c49
14:105167966 INF2 C>T	14	105167966	105167966	C	T	INF2	c.264C>T	NM_022489.3	NP_071934.3:p.(Gly88=)	NC_000014.8:g.105167966C>T	(Likely) benign	1 lab	6389b2c2e2
5:1280258 TERT C>T	5	1280258	1280258	C	T	TERT	c.1950+15G>A	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1280258C>T	(Likely) benign	1 lab	63bae3ce8e
15:35083385 ACTC1 A>G	15	35083385	35083385	A	G	ACTC1	c.920T>C	NM_005159.4	NP_005150.1:p.(Met307Thr)	NC_000015.9:g.35083385A>G	(Likely) pathogenic	1 lab	638a961673
3:49159360 LAMB2 T>C	3	49159360	49159360	T	C	LAMB2	c.4923+17A>G	NM_002292.4	NP_002283.3:p.?	NC_000003.11:g.49159360T>C	(Likely) benign	1 lab	638b594c74
2:44547333 SLC3A1 A>T	2	44547333	44547333	A	T	SLC3A1	c.1618-5A>T	NM_000341.4	NP_000332.2:p.?	NC_000002.11:g.44547333A>T	(Likely) benign	1 lab	638dd8aaea
3:81810725 GBE1 C>T	3	81810725	81810725	C	T	GBE1	c.-58G>A	NM_000158.3	NP_000149.3:p.?	NC_000003.11:g.81810725C>T	(Likely) benign	1 lab	6390101502
5:76028566 F2R T>G	5	76028566	76028566	T	G	F2R	c.516T>G	NM_001992.5	NP_001983.2:p.(Ser172=)	NC_000005.9:g.76028566T>G	(Likely) benign	1 lab	6394a58a95
6:83861440 PGM3 A>G	6	83861440	83861440	A	G	PGM3	n.2177T>C	NR_159812.2		NC_000006.11:g.83861440A>G	(Likely) benign	1 lab	6395ab8168
1:228432061 OBSCN C>T	1	228432061	228432061	C	T	OBSCN	c.3546C>T	NM_001271223.2	NP_001258152.2:p.(Ala1182=)	NC_000001.10:g.228432061C>T	(Likely) benign	1 lab	639cfd4bb3
11:5719756 TRIM22 C>T	11	5719756	5719756	C	T	TRIM22	c.731C>T	NM_006074.5	NP_006065.2:p.(Ser244Leu)	NC_000011.9:g.5719756C>T	(Likely) benign	1 lab	65507f6135
2:179395389 TTN G>C	2	179395389	179395389	G	C	TTN	c.105953C>G	NM_001267550.1	NP_001254479.1:p.(Thr35318Ser)	NC_000002.11:g.179395389G>C	VUS	1 lab	63a085ba00
16:11010330 CIITA G>A	16	11010330	11010330	G	A	CIITA	c.3062+14G>A	NM_000246.3	NP_000237.2:p.?	NC_000016.9:g.11010330G>A	(Likely) benign	1 lab	63a3f9fc8f
17:73732484 ITGB4 C>T	17	73732484	73732484	C	T	ITGB4	c.1860+17C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73732484C>T	(Likely) benign	1 lab	63b40c0c6c
8:41583465 ANK1 C>A	8	41583465	41583465	C	A	ANK1	c.427-1G>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41583465C>A	(Likely) pathogenic	1 lab	63b4556435
16:3304250 MEFV G>A	16	3304250	3304250	G	A	MEFV	c.818C>T	NM_000243.2	NP_000234.1:p.(Ser273Leu)	NC_000016.9:g.3304250G>A	VUS	1 lab	63b67f03da
20:62326733 RTEL1 C>T	20	62326733	62326733	C	T	RTEL1	c.3552C>T	NM_001283009.2	NP_001269938.1:p.(Phe1184=)	NC_000020.10:g.62326733C>T	(Likely) benign	1 lab	63b9dfe715
19:3983262 EEF2 C>T	19	3983262	3983262	C	T	EEF2	c.246G>A	NM_001961.4	NP_001952.1:p.(Ser82=)	NC_000019.9:g.3983262C>T	(Likely) benign	1 lab	63bb9dbfa5
12:66849475 GRIP1 T>C	12	66849475	66849475	T	C	GRIP1	c.1043-131A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849475T>C	(Likely) benign	1 lab	63bbe0dcde
2:179611529 TTN GTGT>G	2	179611529	179611535	GTGT	G	TTN	c.11312-4884_11312-4882del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611533_179611535del	VUS	1 lab	63bcd5818e
10:60556225 BICC1 C>T	10	60556225	60556225	C	T	BICC1	c.1305C>T	NM_001080512.3	NP_001073981.1:p.(Ala435=)	NC_000010.10:g.60556225C>T	(Likely) benign	1 lab	63c0e8da2a
11:63978727 FERMT3 A>T	11	63978727	63978727	A	T	FERMT3	c.515-20A>T	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63978727A>T	(Likely) benign	1 lab	63c300704f
2:32368478 SPAST T>C	2	32368478	32368478	T	C	SPAST	c.1610T>C	NM_014946.3	NP_055761.2:p.(Leu537Pro)	NC_000002.11:g.32368478T>C	(Likely) pathogenic	1 lab	63c3260080
6:133783605 EYA4 G>T	6	133783605	133783605	G	T	EYA4	c.570G>T	NM_004100.5	NP_004091.3:p.(Leu190Phe)	NC_000006.11:g.133783605G>T	VUS	1 lab	63c59fe8a0
12:98931316 TMPO T>A	12	98931316	98931316	T	A	TMPO	c.629T>A	NM_001032283.2	NP_001027454.1:p.(Val210Glu)	NC_000012.11:g.98931316T>A	VUS	1 lab	63cceaf2fd
16:3293491 MEFV T>C	16	3293491	3293491	T	C	MEFV	c.1996A>G	NM_000243.2	NP_000234.1:p.(Ile666Val)	NC_000016.9:g.3293491T>C	(Likely) pathogenic	1 lab	63d7b05a29
10:16967769 CUBN G>A	10	16967769	16967769	G	A	CUBN	c.6276C>T	NM_001081.3	NP_001072.2:p.(Cys2092=)	NC_000010.10:g.16967769G>A	(Likely) benign	1 lab	63d83b0e5d
16:31477658 ARMC5 C>T	16	31477658	31477658	C	T	ARMC5	c.2256C>T	NM_001105247.2	NP_001098717.1:p.(Phe752=)	NC_000016.9:g.31477658C>T	(Likely) benign	1 lab	63da02382a
X:154185396 F8 A>G	X	154185396	154185396	A	G	F8	c.1588T>C	NM_000132.3	NP_000123.1:p.(Tyr530His)	NC_000023.10:g.154185396A>G	(Likely) pathogenic	1 lab	63da7c84aa
22:51159846 SHANK3 C>T	22	51159846	51159846	C	T	SHANK3	c.3810C>T	NM_001372044.1	NP_001358973.1:p.(Ile1270=)	NC_000022.10:g.51159846C>T	(Likely) benign	1 lab	63db81ac42
12:88512318 CEP290 A>C	12	88512318	88512318	A	C	CEP290	c.1653T>G	NM_025114.4	NP_079390.3:p.(Asp551Glu)	NC_000012.11:g.88512318A>C	(Likely) benign	1 lab	63dcf018cd
2:31572482 XDH T>TG	2	31572482	31572486	T	TG	XDH	c.2969+69dup	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31572486dup	(Likely) benign	1 lab	63dd78bcd0
15:73617644 HCN4 G>A	15	73617644	73617644	G	A	HCN4	c.1732C>T	NM_005477.3	NP_005468.1:p.(Arg578Trp)	NC_000015.9:g.73617644G>A	VUS	1 lab	63deac7f71
9:135203080 SETX C>T	9	135203080	135203080	C	T	SETX	c.3905G>A	NM_001351527.1	NP_001338456.1:p.(Arg1302Gln)	NC_000009.11:g.135203080C>T	VUS	1 lab	63e00894e0
15:86122875 AKAP13 A>C	15	86122875	86122875	A	C	AKAP13	c.1576A>C	NM_006738.6	NP_006729.4:p.(Lys526Gln)	NC_000015.9:g.86122875A>C	(Likely) benign	1 lab	63e377d6a4
1:198721786 PTPRC G>C	1	198721786	198721786	G	C	PTPRC	c.3394G>C	NM_002838.5	NP_002829.3:p.(Ala1132Pro)	NC_000001.10:g.198721786G>C	(Likely) benign	1 lab	63e3bc7362
13:32890588 BRCA2 G>C	13	32890588	32890588	G	C	BRCA2	c.-10G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890588G>C	VUS	1 lab	63ef503c35
5:90073920 ADGRV1 G>A	5	90073920	90073920	G	A	ADGRV1	c.12666+60G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90073920G>A	(Likely) benign	1 lab	63ef5f9048
9:130440709 STXBP1 G>T	9	130440709	130440709	G	T	STXBP1	c.1360-1G>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130440709G>T	(Likely) pathogenic	1 lab	63fac49351
11:108009736 ACAT1 G>A	11	108009736	108009736	G	A	ACAT1	c.547G>A	NM_000019.4	NP_000010.1:p.(Gly183Arg)	NC_000011.9:g.108009736G>A	(Likely) pathogenic	1 lab	63fc97f1f9
8:41550466 ANK1 GC>G	8	41550466	41550469	GC	G	ANK1	c.3630-73del	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41550469del	(Likely) benign	1 lab	6400672041
18:55342072 ATP8B1 T>C	18	55342072	55342072	T	C	ATP8B1	c.1813A>G	NM_005603.6	NP_005594.2:p.(Ile605Val)	NC_000018.9:g.55342072T>C	(Likely) benign	1 lab	640265025c
19:36317522 NPHS1 TC>T	19	36317522	36317523	TC	T	NPHS1	c.3619del	NM_004646.4	NP_004637.1:p.(Glu1207LysfsTer30)	NC_000019.9:g.36317523del	(Likely) pathogenic	1 lab	6406f2ade3
14:77493407 IRF2BPL C>A	14	77493407	77493407	C	A	IRF2BPL	c.729G>T	NM_024496.4	NP_078772.1:p.(Gly243=)	NC_000014.8:g.77493407C>A	(Likely) benign	1 lab	64071c2173
2:168105758 XIRP2 G>A	2	168105758	168105758	G	A	XIRP2	c.7856G>A	NM_152381.6	NP_689594.4:p.(Arg2619Gln)	NC_000002.11:g.168105758G>A	(Likely) benign	1 lab	6407363094
12:110012682 MVK G>A	12	110012682	110012682	G	A	MVK	c.55G>A	NM_000431.2	NP_000422.1:p.(Glu19Lys)	NC_000012.11:g.110012682G>A	VUS	1 lab	640862a70c
20:60909393 LAMA5 G>A	20	60909393	60909393	G	A	LAMA5	c.2588C>T	NM_005560.4	NP_005551.3:p.(Ala863Val)	NC_000020.10:g.60909393G>A	(Likely) benign	1 lab	640dc7bf5b
3:38592405 SCN5A C>T	3	38592405	38592405	C	T	SCN5A	c.5458G>A	NM_198056.2	NP_932173.1:p.(Ala1820Thr)	NC_000003.11:g.38592405C>T	VUS	1 lab	6417887229
2:216226780 FN1 C>T	2	216226780	216226780	C	T	FN1	c.7274G>A	NM_212482.2	NP_997647.1:p.(Arg2425His)	NC_000002.11:g.216226780C>T	(Likely) benign	1 lab	641a17cef7
1:160318820 NCSTN C>T	1	160318820	160318820	C	T	NCSTN	c.222C>T	NM_015331.3	NP_056146.1:p.(His74=)	NC_000001.10:g.160318820C>T	(Likely) benign	1 lab	641b6bf810
12:6442578 TNFRSF1A A>G	12	6442578	6442578	A	G	TNFRSF1A	c.427T>C	NM_001065.3	NP_001056.1:p.(Cys143Arg)	NC_000012.11:g.6442578A>G	(Likely) pathogenic	1 lab	641e115850
11:118186186 CD3E C>G	11	118186186	118186186	C	G	CD3E	c.568-15C>G	NM_000733.3	NP_000724.1:p.?	NC_000011.9:g.118186186C>G	(Likely) benign	1 lab	6428d11fab
7:131191418 PODXL G>A	7	131191418	131191418	G	A	PODXL	c.1073C>T	NM_005397.4	NP_005388.2:p.(Pro358Leu)	NC_000007.13:g.131191418G>A	(Likely) benign	1 lab	642e27d5b8
2:202050562 CASP10 G>A	2	202050562	202050562	G	A	CASP10	c.62G>A	NM_032977.3	NP_116759.2:p.(Arg21His)	NC_000002.11:g.202050562G>A	(Likely) benign	1 lab	642f7af983
16:81129822 GCSH G>A	16	81129822	81129822	G	A	GCSH	c.62C>T	NM_004483.4	NP_004474.2:p.(Ser21Leu)	NC_000016.9:g.81129822G>A	(Likely) benign	1 lab	643064afd9
14:21862552 CHD8 C>T	14	21862552	21862552	C	T	CHD8	c.5483G>A	NM_001170629.2	NP_001164100.1:p.(Arg1828His)	NC_000014.8:g.21862552C>T	(Likely) benign	1 lab	d063001c93
3:78708829 ROBO1 C>T	3	78708829	78708829	C	T	ROBO1	c.2442+7G>A	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78708829C>T	(Likely) benign	1 lab	6435d9f03a
12:56487323 ERBB3 G>A	12	56487323	56487323	G	A	ERBB3	c.1469G>A	NM_001982.3	NP_001973.2:p.(Arg490His)	NC_000012.11:g.56487323G>A	(Likely) benign	1 lab	6436956833
9:131013100 DNM1 T>G	9	131013100	131013100	T	G	DNM1	c.2415T>G	NM_001288738.2	NP_001275667.1:p.(Ala805=)	NC_000009.11:g.131013100T>G	VUS	1 lab	6437af25c9
18:24081031 KCTD1 A>G	18	24081031	24081031	A	G	KCTD1	c.164+5T>C	NM_001258221.1	NP_001245150.1:p.?	NC_000018.9:g.24081031A>G	(Likely) benign	1 lab	643a60ca9e
1:22157464 HSPG2 G>A	1	22157464	22157464	G	A	HSPG2	c.11671+11C>T	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22157464G>A	(Likely) benign	1 lab	643be473a0
2:121746432 GLI2 T>C	2	121746432	121746432	T	C	GLI2	c.2942T>C	NM_005270.5	NP_005261.2:p.(Leu981Pro)	NC_000002.11:g.121746432T>C	VUS	1 lab	d06665cae3
X:10180692 CLCN4 C>T	X	10180692	10180692	C	T	CLCN4	c.1575C>T	NM_001830.4	NP_001821.2:p.(Leu525=)	NC_000023.10:g.10180692C>T	(Likely) benign	1 lab	6446ab8a5b
12:116446715 MED13L T>C	12	116446715	116446715	T	C	MED13L	c.1503A>G	NM_015335.4	NP_056150.1:p.(Gln501=)	NC_000012.11:g.116446715T>C	(Likely) benign	1 lab	6448fa5c79
19:6710985 C3 G>C	19	6710985	6710985	G	C	C3	c.1479+13C>G	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6710985G>C	(Likely) benign	1 lab	644a2db00c
7:98983316 ARPC1B C>T	7	98983316	98983316	C	T	ARPC1B	c.-13-9C>T	NM_005720.4	NP_005711.1:p.?	NC_000007.13:g.98983316C>T	(Likely) benign	1 lab	644ac72b60
20:61991024 CHRNA4 T>C	20	61991024	61991024	T	C	CHRNA4	c.104A>G	NM_000744.6	NP_000735.1:p.(His35Arg)	NC_000020.10:g.61991024T>C	VUS	1 lab	644e48f50e
6:39824129 DAAM2 C>T	6	39824129	39824129	C	T	DAAM2	c.51C>T	NM_001201427.2	NP_001188356.1:p.(Phe17=)	NC_000006.11:g.39824129C>T	(Likely) benign	1 lab	6454463e5d
5:112174116 APC AT>A	5	112174116	112174118	AT	A	APC	c.2827del	NM_000038.6	NP_000029.2:p.(Ser943GlnfsTer12)	NC_000005.9:g.112174118del	(Likely) pathogenic	1 lab	6456377edf
16:9934622 GRIN2A C>T	16	9934622	9934622	C	T	GRIN2A	c.1533G>A	NM_000833.5	NP_000824.1:p.(Ser511=)	NC_000016.9:g.9934622C>T	(Likely) benign	1 lab	645aab9516
22:41303615 XPNPEP3 A>G	22	41303615	41303615	A	G	XPNPEP3	c.817A>G	NM_022098.4	NP_071381.1:p.(Ser273Gly)	NC_000022.10:g.41303615A>G	(Likely) benign	1 lab	6461086833
2:179486368 TTN C>T	2	179486368	179486368	C	T	TTN	c.18363G>A	NM_133432.3	NP_597676.3:p.(Val6121=)	NC_000002.11:g.179486368C>T	(Likely) benign	1 lab	6461efd6c8
1:196757479 CFHR3 A>T	1	196757479	196757479	A	T	CFHR3	c.564A>T	NM_021023.5	NP_066303.2:p.(Gly188=)	NC_000001.10:g.196757479A>T	(Likely) benign	1 lab	6467c5cae1
11:118919260 HYOU1 T>A	11	118919260	118919260	T	A	HYOU1	c.2181A>T	NM_006389.5	NP_006380.1:p.(Thr727=)	NC_000011.9:g.118919260T>A	(Likely) benign	1 lab	6468123ebf
11:65788072 CATSPER1 C>T	11	65788072	65788072	C	T	CATSPER1	c.1954G>A	NM_053054.4	NP_444282.3:p.(Val652Ile)	NC_000011.9:g.65788072C>T	(Likely) benign	1 lab	d068210d90
19:56320911 NLRP11 C>G	19	56320911	56320911	C	G	NLRP11	c.1065G>C	NM_145007.3	NP_659444.2:p.(Lys355Asn)	NC_000019.9:g.56320911C>G	(Likely) benign	1 lab	6474f6a417
16:89613233 SPG7 A>C	16	89613233	89613233	A	C	SPG7	c.1552+65A>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89613233A>C	(Likely) benign	1 lab	6478cdca18
2:227895199 COL4A4 G>C	2	227895199	227895199	G	C	COL4A4	c.3933C>G	NM_000092.4	NP_000083.3:p.(Tyr1311Ter)	NC_000002.11:g.227895199G>C	(Likely) pathogenic	1 lab	64838f6898
16:81819758 PLCG2 G>C	16	81819758	81819758	G	C	PLCG2	c.164G>C	NM_002661.3	NP_002652.2:p.(Ser55Thr)	NC_000016.9:g.81819758G>C	(Likely) benign	1 lab	64852a61f9
19:8651766 ADAMTS10 C>T	19	8651766	8651766	C	T	ADAMTS10	c.2173G>A	NM_030957.4	NP_112219.3:p.(Val725Ile)	NC_000019.9:g.8651766C>T	VUS	1 lab	d07c5903bb
12:52306927 ACVRL1 T>C	12	52306927	52306927	T	C	ACVRL1	c.106T>C	NM_000020.2	NP_000011.2:p.(Cys36Arg)	NC_000012.11:g.52306927T>C	(Likely) pathogenic	1 lab	6487da3d10
12:6442960 TNFRSF1A A>G	12	6442960	6442960	A	G	TNFRSF1A	c.265T>C	NM_001065.3	NP_001056.1:p.(Phe89Leu)	NC_000012.11:g.6442960A>G	(Likely) pathogenic	1 lab	648c844342
11:82644051 DDIAS G>C	11	82644051	82644051	G	C	DDIAS	c.1671G>C	NM_145018.4	NP_659455.3:p.(Lys557Asn)	NC_000011.9:g.82644051G>C	(Likely) benign	1 lab	648cb591c5
7:117264724 CFTR Ref too long to show for this DEL>T	7	117264724	117269729	Ref too long to show for this DEL	T	CFTR	c.3469-2851_3717+1905del	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117264725_117269729del	(Likely) pathogenic	1 lab	d07c7994e5
6:33648214 ITPR3 A>C	6	33648214	33648214	A	C	ITPR3	c.4333A>C	NM_002224.3	NP_002215.2:p.(Thr1445Pro)	NC_000006.11:g.33648214A>C	(Likely) benign	1 lab	648e49ef58
15:89826352 FANCI C>G	15	89826352	89826352	C	G	FANCI	c.1584-15C>G	NM_001113378.1	NP_001106849.1:p.?	NC_000015.9:g.89826352C>G	(Likely) benign	1 lab	6493168c71
12:2602578 CACNA1C A>C	12	2602578	2602578	A	C	CACNA1C	c.1113+26A>C	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2602578A>C	(Likely) benign	1 lab	64975b1b5d
16:69725892 NFAT5 C>T	16	69725892	69725892	C	T	NFAT5	c.1882C>T	NM_138714.4	NP_619728.2:p.(Leu628=)	NC_000016.9:g.69725892C>T	(Likely) benign	1 lab	6497b4f767
4:4861745 MSX1 C>G	4	4861745	4861745	C	G	MSX1	c.119C>G	NM_002448.3	NP_002439.2:p.(Ala40Gly)	NC_000004.11:g.4861745C>G	(Likely) benign	1 lab	649ad797a9
11:72145468 CLPB G>T	11	72145468	72145468	G	T	CLPB	c.51C>A	NM_030813.6	NP_110440.1:p.(Leu17=)	NC_000011.9:g.72145468G>T	(Likely) benign	1 lab	64aa23ca30
1:161518233 FCGR3A C>A	1	161518233	161518233	C	A	FCGR3A	c.612G>T	NM_000569.7	NP_000560.6:p.(Pro204=)	NC_000001.10:g.161518233C>A	(Likely) benign	1 lab	64b29de38c
3:38655281 SCN5A C>T	3	38655281	38655281	C	T	SCN5A	c.656G>A	NM_198056.2	NP_932173.1:p.(Arg219His)	NC_000003.11:g.38655281C>T	(Likely) pathogenic	1 lab	64b2ac2b04
X:76939716 ATRX G>A	X	76939716	76939716	G	A	ATRX	c.1032C>T	NM_000489.5	NP_000480.3:p.(Ser344=)	NC_000023.10:g.76939716G>A	(Likely) benign	1 lab	64b35cc7f1
19:13339876 CACNA1A TG>T	19	13339876	13339885	TG	T	CACNA1A	c.5528+1019del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13339885del	(Likely) benign	1 lab	64b80111b0
1:228346508 GJC2 T>A	1	228346508	228346508	T	A	GJC2	c.1049T>A	NM_020435.4	NP_065168.2:p.(Leu350Gln)	NC_000001.10:g.228346508T>A	VUS	1 lab	64b918a62e
1:92948565 GFI1 G>A	1	92948565	92948565	G	A	GFI1	c.154C>T	NM_005263.3	NP_005254.2:p.(Arg52Trp)	NC_000001.10:g.92948565G>A	(Likely) benign	1 lab	64bd318992
10:95185817 MYOF G>A	10	95185817	95185817	G	A	MYOF	c.433+11C>T	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95185817G>A	(Likely) benign	1 lab	64c09dd547
19:35524266 SCN1B CT>C	19	35524266	35524267	CT	C	SCN1B	c.208-136del	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35524267del	(Likely) benign	1 lab	64c6b02407
12:52314573 ACVRL1 G>T	12	52314573	52314573	G	T	ACVRL1	c.1408G>T	NM_000020.2	NP_000011.2:p.(Glu470Ter)	NC_000012.11:g.52314573G>T	(Likely) pathogenic	1 lab	64c70b7796
15:93499903 CHD2 A>G	15	93499903	93499903	A	G	CHD2	c.2000+24A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93499903A>G	(Likely) benign	1 lab	64ca04bd7e
19:13370476 CACNA1A C>T	19	13370476	13370476	C	T	CACNA1A	c.4302G>A	NM_023035.3	NP_075461.2:p.(Ala1434=)	NC_000019.9:g.13370476C>T	(Likely) benign	1 lab	64ca39ee1a
8:27328788 CHRNA2 C>A	8	27328788	27328788	C	A	CHRNA2	c.-136-77G>T	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27328788C>A	(Likely) benign	1 lab	64ca561b31
11:118895635 SLC37A4 G>A	11	118895635	118895635	G	A	SLC37A4	c.1275C>T	NM_001164277.1	NP_001157749.1:p.(Ser425=)	NC_000011.9:g.118895635G>A	(Likely) benign	1 lab	64cb37d6b9
17:41234492 BRCA1 T>G	17	41234492	41234492	T	G	BRCA1	c.4286A>C	NM_007300.4	NP_009231.2:p.(Tyr1429Ser)	NC_000017.10:g.41234492T>G	VUS	1 lab	64cee7fe67
18:2960692 LPIN2 G>A	18	2960692	2960692	G	A	LPIN2	c.147C>T	NM_014646.2	NP_055461.1:p.(His49=)	NC_000018.9:g.2960692G>A	(Likely) benign	1 lab	64cf0543d6
12:3782778 CRACR2A C>T	12	3782778	3782778	C	T	CRACR2A	c.525-20G>A	NM_001144958.2	NP_001138430.1:p.?	NC_000012.11:g.3782778C>T	(Likely) benign	1 lab	64ec6798ab
X:70329235 IL2RG T>G	X	70329235	70329235	T	G	IL2RG	c.600A>C	NM_000206.2	NP_000197.1:p.(Gln200His)	NC_000023.10:g.70329235T>G	(Likely) benign	1 lab	64d232d691
9:377046 DOCK8 G>A	9	377046	377046	G	A	DOCK8	c.2275G>A	NM_203447.3	NP_982272.2:p.(Val759Met)	NC_000009.11:g.377046G>A	(Likely) benign	1 lab	64d33123ab
16:70548297 COG4 G>A	16	70548297	70548297	G	A	COG4	c.485C>T	NM_015386.3	NP_056201.2:p.(Thr162Ile)	NC_000016.9:g.70548297G>A	(Likely) benign	1 lab	d0864cae8c
X:154158059 F8 G>A	X	154158059	154158059	G	A	F8	c.4006C>T	NM_000132.3	NP_000123.1:p.(Gln1336Ter)	NC_000023.10:g.154158059G>A	(Likely) pathogenic	1 lab	64d7bb44e3
16:2547125 TBC1D24 G>A	16	2547125	2547125	G	A	TBC1D24	c.965+11G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547125G>A	(Likely) benign	1 lab	64df2d0f7d
16:139865 NPRL3 C>T	16	139865	139865	C	T	NPRL3	c.1122G>A	NM_001243249.1	NP_001230178.1:p.(Gln374=)	NC_000016.9:g.139865C>T	(Likely) benign	1 lab	64dfba1fcb
15:45661601 GATM G>A	15	45661601	45661601	G	A	GATM	c.407C>T	NM_001482.3	NP_001473.1:p.(Thr136Met)	NC_000015.9:g.45661601G>A	(Likely) benign	1 lab	64e24b136d
12:103238187 PAH A>C	12	103238187	103238187	A	C	PAH	c.992T>G	NM_000277.3	NP_000268.1:p.(Phe331Cys)	NC_000012.11:g.103238187A>C	(Likely) pathogenic	1 lab	64e42e6425
X:153760917 G6PD C>G	X	153760917	153760917	C	G	G6PD	c.1152G>C	NM_001042351.3	NP_001035810.1:p.(Gln384His)	NC_000023.10:g.153760917C>G	(Likely) benign	1 lab	d0887e3e46
19:36334594 NPHS1 G>A	19	36334594	36334594	G	A	NPHS1	c.2213-99C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36334594G>A	(Likely) benign	1 lab	64e57c7f0c
11:47353735 MYBPC3 TC>T	11	47353735	47353738	TC	T	MYBPC3	c.3701del	NM_000256.3	NP_000247.2:p.(Gly1234GlufsTer3)	NC_000011.9:g.47353738del	(Likely) pathogenic	1 lab	64ea1dd370
3:39229590 XIRP1 G>A	3	39229590	39229590	G	A	XIRP1	c.1347C>T	NM_194293.4	NP_919269.2:p.(Pro449=)	NC_000003.11:g.39229590G>A	(Likely) benign	1 lab	64ec2ff7c9
17:61566085 ACE G>A	17	61566085	61566085	G	A	ACE	c.2382G>A	NM_000789.4	NP_000780.1:p.(Ala794=)	NC_000017.10:g.61566085G>A	(Likely) benign	1 lab	64f0a8b6bb
X:118985711 UPF3B C>CTTTTTTTTTTTTTTTT	X	118985711	118985727	C	CTTTTTTTTTTTTTTTT	UPF3B	c.263+3_263+18dup	NM_080632.2	NP_542199.1:p.?	NC_000023.10:g.118985712_118985727dup	(Likely) benign	1 lab	64f6dde995
19:54304637 NLRP12 C>T	19	54304637	54304637	C	T	NLRP12	c.2600G>A	NM_144687.4	NP_653288.1:p.(Arg867His)	NC_000019.9:g.54304637C>T	(Likely) benign	1 lab	64f77f8cac
19:42910455 LIPE G>A	19	42910455	42910455	G	A	LIPE	c.2223C>T	NM_005357.4	NP_005348.2:p.(Tyr741=)	NC_000019.9:g.42910455G>A	(Likely) benign	1 lab	64f97cff55
6:32805789 TAP2 G>T	6	32805789	32805789	G	T	TAP2	c.222C>A	NM_000544.3	NP_000535.3:p.(Pro74=)	NC_000006.11:g.32805789G>T	(Likely) benign	1 lab	64f9b51184
1:237872144 RYR2 C>T	1	237872144	237872144	C	T	RYR2	c.9902-14C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237872144C>T	(Likely) benign	1 lab	64fcb3a720
17:77751983 CBX2 C>G	17	77751983	77751983	C	G	CBX2	c.-52C>G	NM_005189.3	NP_005180.1:p.?	NC_000017.10:g.77751983C>G	(Likely) benign	1 lab	64fd9c9b78
7:111368492 DOCK4 G>A	7	111368492	111368492	G	A	DOCK4	c.5739C>T	NM_014705.4	NP_055520.3:p.(Pro1913=)	NC_000007.13:g.111368492G>A	(Likely) benign	1 lab	64fe5b816e
2:220283127 DES C>T	2	220283127	220283127	C	T	DES	c.-58C>T	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220283127C>T	(Likely) benign	1 lab	64ff5af332
6:133836453 EYA4 T>C	6	133836453	133836453	T	C	EYA4	c.1502-6T>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133836453T>C	(Likely) benign	1 lab	65035f137f
5:88018388 MEF2C GA>G	5	88018388	88018401	GA	G	MEF2C	c.*32del	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88018401del	(Likely) benign	1 lab	650da4f371
17:41245830 BRCA1 G>T	17	41245830	41245830	G	T	BRCA1	c.1718C>A	NM_007294.3	NP_009225.1:p.(Ser573Ter)	NC_000017.10:g.41245830G>T	(Likely) pathogenic	1 lab	650eecaabb
5:55237655 IL6ST A>G	5	55237655	55237655	A	G	IL6ST	c.2020-8T>C	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55237655A>G	(Likely) benign	1 lab	65117444a2
5:90074651 ADGRV1 C>T	5	90074651	90074651	C	T	ADGRV1	c.12850-31C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90074651C>T	(Likely) benign	1 lab	6550d9c411
1:57417781 C8B C>T	1	57417781	57417781	C	T	C8B	c.606G>A	NM_000066.2	NP_000057.1:p.(Pro202=)	NC_000001.10:g.57417781C>T	(Likely) benign	1 lab	6519f04487
3:10183733 VHL T>C	3	10183733	10183733	T	C	VHL	c.202T>C	NM_000551.3	NP_000542.1:p.(Ser68Pro)	NC_000003.11:g.10183733T>C	(Likely) pathogenic	1 lab	651d77c577
7:131193758 PODXL T>C	7	131193758	131193758	T	C	PODXL	c.957A>G	NM_005397.4	NP_005388.2:p.(Thr319=)	NC_000007.13:g.131193758T>C	(Likely) benign	1 lab	651ef6fd93
10:115372156 NRAP G>A	10	115372156	115372156	G	A	NRAP	c.3335C>T	NM_001261463.1	NP_001248392.1:p.(Ala1112Val)	NC_000010.10:g.115372156G>A	(Likely) benign	1 lab	651f10369f
17:73750755 ITGB4 C>T	17	73750755	73750755	C	T	ITGB4	c.4417C>T	NM_000213.5	NP_000204.3:p.(Leu1473=)	NC_000017.10:g.73750755C>T	(Likely) benign	1 lab	652003a547
X:153008984 ABCD1 G>A	X	153008984	153008984	G	A	ABCD1	c.2033G>A	NM_000033.4	NP_000024.2:p.(Gly678Asp)	NC_000023.10:g.153008984G>A	(Likely) benign	1 lab	65231dd956
5:141980372 FGF1 TG>T	5	141980372	141980374	TG	T	FGF1	c.170-3del	NM_001354955.2	NP_001341884.1:p.?	NC_000005.9:g.141980374del	(Likely) benign	1 lab	d08be30525
2:191841652 STAT1 T>C	2	191841652	191841652	T	C	STAT1	c.1973A>G	NM_139266.2	NP_644671.1:p.(Asn658Ser)	NC_000002.11:g.191841652T>C	(Likely) pathogenic	1 lab	652b965f5f
11:2608813 KCNQ1 G>A	11	2608813	2608813	G	A	KCNQ1	c.1142G>A	NM_000218.2	NP_000209.2:p.(Cys381Tyr)	NC_000011.9:g.2608813G>A	VUS	1 lab	6532ae4af6
11:8132633 RIC3 C>T	11	8132633	8132633	C	T	RIC3	c.722G>A	NM_001206671.4	NP_001193600.1:p.(Arg241His)	NC_000011.9:g.8132633C>T	(Likely) benign	1 lab	653befcd4b
6:30994540 MUC22 A>T	6	30994540	30994540	A	T	MUC22	c.1332A>T	NM_001198815.1	NP_001185744.1:p.(Ser444=)	NC_000006.11:g.30994540A>T	(Likely) benign	1 lab	653f5e6ccc
19:4818379 TICAM1 G>A	19	4818379	4818379	G	A	TICAM1	c.11C>T	NM_182919.3	NP_891549.1:p.(Thr4Ile)	NC_000019.9:g.4818379G>A	(Likely) benign	1 lab	654ae97577
X:13779409 OFD1 AT>A	X	13779409	13779421	AT	A	OFD1	c.2387+91del	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13779421del	(Likely) benign	1 lab	654bb0c314
2:165971984 SCN3A C>T	2	165971984	165971984	C	T	SCN3A	c.3495G>A	NM_006922.4	NP_008853.3:p.(Pro1165=)	NC_000002.11:g.165971984C>T	(Likely) benign	1 lab	654c569169
16:75270885 BCAR1 T>G	16	75270885	75270885	T	G	BCAR1	c.945A>C	NM_001170714.3	NP_001164185.1:p.(Thr315=)	NC_000016.9:g.75270885T>G	(Likely) benign	1 lab	654df9ba89
7:139655339 TBXAS1 T>A	7	139655339	139655339	T	A	TBXAS1	c.621T>A	NM_001061.7	NP_001052.3:p.(Asp207Glu)	NC_000007.13:g.139655339T>A	(Likely) benign	1 lab	65550e9e41
3:10183795 VHL G>T	3	10183795	10183795	G	T	VHL	c.264G>T	NM_000551.3	NP_000542.1:p.(Trp88Cys)	NC_000003.11:g.10183795G>T	(Likely) pathogenic	1 lab	655780fb93
5:161524944 GABRG2 GAA>G	5	161524944	161524956	GAA	G	GABRG2	c.548+91_548+92del	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161524955_161524956del	(Likely) benign	1 lab	6559c78172
19:46832460 HIF3A G>T	19	46832460	46832460	G	T	HIF3A	c.1435-4G>T	NM_152794.4	NP_690007.1:p.?	NC_000019.9:g.46832460G>T	(Likely) benign	1 lab	655a819f19
20:45354256 SLC2A10 C>T	20	45354256	45354256	C	T	SLC2A10	c.581C>T	NM_030777.4	NP_110404.1:p.(Thr194Ile)	NC_000020.10:g.45354256C>T	(Likely) benign	1 lab	65605544c9
7:74193511 NCF1 C>T	7	74193511	74193511	C	T	NCF1	c.229+8C>T	NM_000265.6	NP_000256.4:p.?	NC_000007.13:g.74193511C>T	(Likely) benign	1 lab	656203d717
1:179886769 TOR1AIP1 G>A	1	179886769	179886769	G	A	TOR1AIP1	c.1150G>A	NM_001267578.1	NP_001254507.1:p.(Asp384Asn)	NC_000001.10:g.179886769G>A	(Likely) benign	1 lab	656405d4f1
12:110029082 MVK G>C	12	110029082	110029082	G	C	MVK	c.805G>C	NM_000431.2	NP_000422.1:p.(Asp269His)	NC_000012.11:g.110029082G>C	VUS	1 lab	656e0c72b5
4:155507677 FGA G>C	4	155507677	155507677	G	C	FGA	c.904C>G	NM_000508.3	NP_000499.1:p.(Pro302Ala)	NC_000004.11:g.155507677G>C	(Likely) benign	1 lab	656e81b3ff
11:2906804 CDKN1C C>T	11	2906804	2906804	C	T	CDKN1C	c.-85G>A	NM_000076.2	NP_000067.1:p.?	NC_000011.9:g.2906804C>T	(Likely) benign	1 lab	656fcc8e60
2:60687959 BCL11A A>G	2	60687959	60687959	A	G	BCL11A	c.2088T>C	NM_022893.4	NP_075044.2:p.(Ser696=)	NC_000002.11:g.60687959A>G	(Likely) benign	1 lab	d08f8b10c1
17:41246621 BRCA1 T>C	17	41246621	41246621	T	C	BRCA1	c.927A>G	NM_007294.3	NP_009225.1:p.(Lys309=)	NC_000017.10:g.41246621T>C	(Likely) benign	1 lab	657ab2e902
5:35875690 IL7R G>A	5	35875690	35875690	G	A	IL7R				NC_000005.9:g.35875690G>A	(Likely) pathogenic	1 lab	657cf8af99
X:154221352 F8 T>G	X	154221352	154221352	T	G	F8	c.460A>C	NM_000132.3	NP_000123.1:p.(Thr154Pro)	NC_000023.10:g.154221352T>G	(Likely) pathogenic	1 lab	657db51392
13:32969248 BRCA2 A>G	13	32969248	32969248	A	G	BRCA2	c.9501+178A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32969248A>G	(Likely) benign	1 lab	657e81b37e
5:168135089 SLIT3 G>A	5	168135089	168135089	G	A	SLIT3	c.2736C>T	NM_003062.3	NP_003053.1:p.(Asn912=)	NC_000005.9:g.168135089G>A	(Likely) benign	1 lab	65807ba4b6
9:14784445 FREM1 G>A	9	14784445	14784445	G	A	FREM1	c.4365C>T	NM_144966.5	NP_659403.4:p.(Phe1455=)	NC_000009.11:g.14784445G>A	(Likely) benign	1 lab	6584c91b72
2:216284284 FN1 TA>T	2	216284284	216284294	TA	T	FN1	c.1676-177del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216284294del	(Likely) benign	1 lab	6586391764
3:113377899 USF3 G>C	3	113377899	113377899	G	C	USF3	c.2630C>G	NM_001009899.4	NP_001009899.3:p.(Pro877Arg)	NC_000003.11:g.113377899G>C	VUS	1 lab	d09019c204
1:165712555 TMCO1 G>GA	1	165712555	165712570	G	GA	TMCO1	c.288-8dup	NM_001256165.1	NP_001243094.1:p.?	NC_000001.10:g.165712570dup	(Likely) benign	1 lab	6588a45c37
7:135304527 NUP205 A>C	7	135304527	135304527	A	C	NUP205	c.4232-11A>C	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135304527A>C	(Likely) benign	1 lab	6589c79ed1
9:712280 KANK1 C>T	9	712280	712280	C	T	KANK1	c.1514C>T	NM_015158.4	NP_055973.2:p.(Thr505Met)	NC_000009.11:g.712280C>T	(Likely) benign	1 lab	658b20b8dc
9:95527083 BICD2 A>AGCC	9	95527083	95527094	A	AGCC	BICD2	c.-60_-58dup	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95527092_95527094dup	(Likely) benign	1 lab	658c36f84e
11:118347554 KMT2A G>C	11	118347554	118347554	G	C	KMT2A	c.3191G>C	NM_001197104.2	NP_001184033.1:p.(Arg1064Pro)	NC_000011.9:g.118347554G>C	VUS	1 lab	d097bc75bd
6:32946240 BRD2 G>T	6	32946240	32946240	G	T	BRD2	c.1841+75G>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946240G>T	(Likely) benign	1 lab	659526b082
13:32905265 BRCA2 G>A	13	32905265	32905265	G	A	BRCA2	c.793+98G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905265G>A	(Likely) benign	1 lab	6596589440
5:79029836 CMYA5 G>A	5	79029836	79029836	G	A	CMYA5	c.5248G>A	NM_153610.5	NP_705838.3:p.(Gly1750Arg)	NC_000005.9:g.79029836G>A	(Likely) benign	1 lab	659acdb56e
20:36024560 SRC C>T	20	36024560	36024560	C	T	SRC	c.554-5C>T	NM_005417.4	NP_005408.1:p.?	NC_000020.10:g.36024560C>T	(Likely) benign	1 lab	659b361abe
3:67546279 SUCLG2 AC>A	3	67546279	67546281	AC	A	SUCLG2	c.1004del	NM_003848.4	NP_003839.2:p.(Gly335ValfsTer3)	NC_000003.11:g.67546281del	VUS	1 lab	659bb2a54f
17:61570983 ACE C>T	17	61570983	61570983	C	T	ACE	c.3099C>T	NM_000789.4	NP_000780.1:p.(His1033=)	NC_000017.10:g.61570983C>T	(Likely) benign	1 lab	659d6e1a35
22:36718564 MYH9 G>A	22	36718564	36718564	G	A	MYH9	c.615C>T	NM_002473.5	NP_002464.1:p.(Gly205=)	NC_000022.10:g.36718564G>A	(Likely) benign	1 lab	659dd1040d
20:31384673 DNMT3B C>T	20	31384673	31384673	C	T	DNMT3B	c.1375C>T	NM_006892.3	NP_008823.1:p.(Arg459Trp)	NC_000020.10:g.31384673C>T	VUS	1 lab	65a83ffadd
16:50741763 NOD2 T>C	16	50741763	50741763	T	C	NOD2	c.541-3T>C	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50741763T>C	(Likely) benign	1 lab	66e824b395
10:112581639 RBM20 C>A	10	112581639	112581639	C	A	RBM20	c.3262C>A	NM_001134363.1	NP_001127835.1:p.(Pro1088Thr)	NC_000010.10:g.112581639C>A	VUS	1 lab	65b37f8394
3:64536649 ADAMTS9 G>A	3	64536649	64536649	G	A	ADAMTS9	c.4788C>T	NM_182920.2	NP_891550.1:p.(Asp1596=)	NC_000003.11:g.64536649G>A	(Likely) benign	1 lab	65b4e13d9e
14:92530750 ATXN3 T>C	14	92530750	92530750	T	C	ATXN3	c.1000A>G	NM_004993.6	NP_004984.2:p.(Met334Val)	NC_000014.8:g.92530750T>C	(Likely) benign	1 lab	65ba03bc5a
2:227967830 COL4A4 GA>G	2	227967830	227967841	GA	G	COL4A4	c.870+29del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227967841del	(Likely) benign	1 lab	65bf57b174
18:55364849 ATP8B1 C>A	18	55364849	55364849	C	A	ATP8B1	c.698+1G>T	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55364849C>A	VUS	1 lab	65c214354d
10:96025409 PLCE1 C>T	10	96025409	96025409	C	T	PLCE1	c.4059C>T	NM_016341.3	NP_057425.3:p.(Phe1353=)	NC_000010.10:g.96025409C>T	(Likely) benign	1 lab	65c493c8ae
6:47576899 CD2AP C>T	6	47576899	47576899	C	T	CD2AP	c.1673C>T	NM_012120.3	NP_036252.1:p.(Ala558Val)	NC_000006.11:g.47576899C>T	(Likely) benign	1 lab	65c651810e
9:6553510 GLDC C>T	9	6553510	6553510	C	T	GLDC	c.2316-1G>A	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6553510C>T	(Likely) pathogenic	1 lab	d0995d3b63
15:93480744 CHD2 A>C	15	93480744	93480744	A	C	CHD2	c.444-4A>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93480744A>C	(Likely) benign	1 lab	65c8deb0a0
7:77975301 MAGI2 T>C	7	77975301	77975301	T	C	MAGI2	c.1163A>G	NM_012301.4	NP_036433.2:p.(Gln388Arg)	NC_000007.13:g.77975301T>C	VUS	1 lab	d09afc72ed
X:32361305 DMD G>A	X	32361305	32361305	G	A	DMD	c.5316C>T	NM_004010.3	NP_004001.1:p.(Asp1772=)	NC_000023.10:g.32361305G>A	(Likely) benign	1 lab	65cbad40ec
14:103336518 TRAF3 A>G	14	103336518	103336518	A	G	TRAF3	c.-17-4A>G	NM_145725.2	NP_663777.1:p.?	NC_000014.8:g.103336518A>G	(Likely) benign	1 lab	65d0b5474b
17:48275299 COL1A1 A>G	17	48275299	48275299	A	G	COL1A1	c.642+11T>C	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48275299A>G	(Likely) benign	1 lab	65d304d134
9:137676824 COL5A1 C>T	9	137676824	137676824	C	T	COL5A1	c.2485-11C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137676824C>T	(Likely) benign	1 lab	65dad5a553
14:95574310 DICER1 T>C	14	95574310	95574310	T	C	DICER1	c.2557A>G	NM_177438.2	NP_803187.1:p.(Ile853Val)	NC_000014.8:g.95574310T>C	(Likely) benign	1 lab	65dbb1f571
7:158707017 DYNC2I1 A>G	7	158707017	158707017	A	G	DYNC2I1	c.1791+5A>G	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158707017A>G	(Likely) benign	1 lab	65dd9806c2
18:3164407 MYOM1 T>C	18	3164407	3164407	T	C	MYOM1	c.1370A>G	NM_003803.3	NP_003794.3:p.(Gln457Arg)	NC_000018.9:g.3164407T>C	VUS	1 lab	65dec71c2a
2:179451406 TTN C>A	2	179451406	179451406	C	A	TTN	c.37402G>T	NM_133432.3	NP_597676.3:p.(Glu12468Ter)	NC_000002.11:g.179451406C>A	(Likely) pathogenic	1 lab	65e33fb0fc
17:73751263 ITGB4 T>C	17	73751263	73751263	T	C	ITGB4	c.4476T>C	NM_001005619.1	NP_001005619.1:p.(Ala1492=)	NC_000017.10:g.73751263T>C	(Likely) benign	1 lab	65e568f57a
X:100615078 BTK A>T	X	100615078	100615078	A	T	BTK	c.837T>A	NM_000061.2	NP_000052.1:p.(Tyr279Ter)	NC_000023.10:g.100615078A>T	(Likely) pathogenic	1 lab	65e769493c
7:128477495 FLNC A>T	7	128477495	128477495	A	T	FLNC	c.743A>T	NM_001458.4	NP_001449.3:p.(His248Leu)	NC_000007.13:g.128477495A>T	VUS	1 lab	65ea841cbd
7:98991635 ARPC1B C>T	7	98991635	98991635	C	T	ARPC1B	c.990-17C>T	NM_005720.4	NP_005711.1:p.?	NC_000007.13:g.98991635C>T	(Likely) benign	1 lab	65eb5b78bb
14:74753166 ABCD4 A>T	14	74753166	74753166	A	T	ABCD4	c.1819T>A	NM_005050.4	NP_005041.1:p.(Ter607ArgextTer53)	NC_000014.8:g.74753166A>T	VUS	1 lab	65eba40a77
2:24427250 ITSN2 G>A	2	24427250	24427250	G	A	ITSN2	c.4758C>T	NM_001348181.2	NP_001335110.1:p.(Ser1586=)	NC_000002.11:g.24427250G>A	(Likely) benign	1 lab	65f2cf1035
17:41262604 BRCA1 CAAA>C	17	41262604	41262621	CAAA	C	BRCA1	c.135-4057_135-4055del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41262619_41262621del	(Likely) benign	1 lab	65f7a2703f
2:166909129 SCN1A A>T	2	166909129	166909129	A	T	SCN1A	c.694+233T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909129A>T	(Likely) benign	1 lab	65f8a498ba
5:177034533 B4GALT7 G>A	5	177034533	177034533	G	A	B4GALT7	c.639+5G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177034533G>A	(Likely) pathogenic	1 lab	65f9a001dd
18:33783115 MOCOS G>A	18	33783115	33783115	G	A	MOCOS	c.981G>A	NM_017947.4	NP_060417.4:p.(Ala327=)	NC_000018.9:g.33783115G>A	(Likely) benign	1 lab	660062ab75
1:161518336 FCGR3A C>T	1	161518336	161518336	C	T	FCGR3A	c.509G>A	NM_000569.7	NP_000560.6:p.(Ser170Asn)	NC_000001.10:g.161518336C>T	(Likely) benign	1 lab	6601a54d11
1:160098688 ATP1A2 G>A	1	160098688	160098688	G	A	ATP1A2				NC_000001.10:g.160098688G>A	(Likely) benign	1 lab	6601b6c333
12:110029061 MVK GC>G	12	110029061	110029067	GC	G	MVK	c.790del	NM_000431.4	NP_000422.1:p.(Leu264SerfsTer2)	NC_000012.11:g.110029067del	(Likely) pathogenic	1 lab	66042afcd4
18:43502447 EPG5 C>T	18	43502447	43502447	C	T	EPG5	c.2958G>A	NM_020964.3	NP_066015.2:p.(Pro986=)	NC_000018.9:g.43502447C>T	(Likely) benign	1 lab	6605cafe39
6:51640694 PKHD1 C>T	6	51640694	51640694	C	T	PKHD1	c.8466G>A	NM_138694.4	NP_619639.3:p.(Lys2822=)	NC_000006.11:g.51640694C>T	(Likely) benign	1 lab	66063dc259
14:65268100 SPTB A>G	14	65268100	65268100	A	G	SPTB	c.666T>C	NM_001024858.3	NP_001020029.1:p.(Phe222=)	NC_000014.8:g.65268100A>G	(Likely) benign	1 lab	660e64b147
9:842230 DMRT1 GTT>G	9	842230	842253	GTT	G	DMRT1	c.354+60_354+61del	NM_021951.3	NP_068770.2:p.?	NC_000009.11:g.842252_842253del	(Likely) benign	1 lab	660e9c4658
10:99338262 ANKRD2 C>T	10	99338262	99338262	C	T	ANKRD2	c.695C>T	NM_001291218.1	NP_001278147.1:p.(Pro232Leu)	NC_000010.10:g.99338262C>T	(Likely) benign	1 lab	66195c1d8c
13:35733549 NBEA T>A	13	35733549	35733549	T	A	NBEA	c.3241T>A	NM_015678.4	NP_056493.3:p.(Leu1081Ile)	NC_000013.10:g.35733549T>A	(Likely) benign	1 lab	661b62b7c2
16:56924209 SLC12A3 G>A	16	56924209	56924209	G	A	SLC12A3	c.2309G>A	NM_000339.3	NP_000330.3:p.(Gly770Asp)	NC_000016.9:g.56924209G>A	(Likely) pathogenic	1 lab	661c1ae826
5:37138953 CPLANE1 T>A	5	37138953	37138953	T	A	CPLANE1	c.8502-3A>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37138953T>A	(Likely) benign	1 lab	661d43a8c3
16:85948140 IRF8 C>G	16	85948140	85948140	C	G	IRF8	c.601+14C>G	NM_002163.2	NP_002154.1:p.?	NC_000016.9:g.85948140C>G	(Likely) benign	1 lab	66214d6aca
7:148080865 CNTNAP2 G>A	7	148080865	148080865	G	A	CNTNAP2	c.3600G>A	NM_014141.6	NP_054860.1:p.(Ser1200=)	NC_000007.13:g.148080865G>A	(Likely) benign	1 lab	6622a34ab5
10:27031548 PDSS1 C>T	10	27031548	27031548	C	T	PDSS1	c.1107+42C>T	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27031548C>T	(Likely) benign	1 lab	6625d9cb15
2:24531519 ITSN2 T>C	2	24531519	24531519	T	C	ITSN2	c.760A>G	NM_147152.3	NP_671494.2:p.(Thr254Ala)	NC_000002.11:g.24531519T>C	(Likely) benign	1 lab	662aaad5e1
10:21129699 NEBL C>T	10	21129699	21129699	C	T	NEBL	c.1307G>A	NM_006393.2	NP_006384.1:p.(Arg436Lys)	NC_000010.10:g.21129699C>T	VUS	1 lab	66335596b4
12:53823887 AMHR2 C>A	12	53823887	53823887	C	A	AMHR2	c.1289-43C>A	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53823887C>A	VUS	1 lab	67ba2d08f3
21:47544541 COL6A2 C>G	21	47544541	47544541	C	G	COL6A2	c.1672-24C>G	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47544541C>G	(Likely) benign	1 lab	6643b4f161
1:45973222 MMACHC G>T	1	45973222	45973222	G	T	MMACHC	c.276G>T	NM_015506.2	NP_056321.2:p.(Glu92Asp)	NC_000001.10:g.45973222G>T	(Likely) pathogenic	1 lab	6646febd3f
X:53321204 IQSEC2 A>T	X	53321204	53321204	A	T	IQSEC2	c.708-98T>A	NM_001111125.3	NP_001104595.1:p.?	NC_000023.10:g.53321204A>T	(Likely) benign	1 lab	66485a26a9
18:60036665 TNFRSF11A G>A	18	60036665	60036665	G	A	TNFRSF11A				NC_000018.9:g.60036665G>A	(Likely) benign	1 lab	664a714c17
15:42127420 JMJD7-PLA2G4B G>T	15	42127420	42127420	G	T	JMJD7-PLA2G4B	c.471G>T	NM_005090.3	NP_005081.1:p.(Leu157=)	NC_000015.9:g.42127420G>T	(Likely) benign	1 lab	664ccd86ae
19:50826335 KCNC3 CCT>C	19	50826335	50826337	CCT	C	KCNC3	c.1873_1874del	NM_004977.3	NP_004968.2:p.(Arg625GlyfsTer30)	NC_000019.9:g.50826336_50826337del	VUS	1 lab	664d5903de
1:154548384 CHRNB2 C>T	1	154548384	154548384	C	T	CHRNB2	c.1485C>T	NM_000748.3	NP_000739.1:p.(Asp495=)	NC_000001.10:g.154548384C>T	(Likely) benign	1 lab	6652910058
2:202050520 CASP10 A>G	2	202050520	202050520	A	G	CASP10	c.20A>G	NM_032977.3	NP_116759.2:p.(His7Arg)	NC_000002.11:g.202050520A>G	VUS	1 lab	6656bd8f77
13:39266167 FREM2 T>C	13	39266167	39266167	T	C	FREM2	c.4686T>C	NM_207361.6	NP_997244.4:p.(Asp1562=)	NC_000013.10:g.39266167T>C	(Likely) benign	1 lab	66581f5262
11:36597313 RAG1 A>G	11	36597313	36597313	A	G	RAG1	c.2459A>G	NM_000448.2	NP_000439.1:p.(Lys820Arg)	NC_000011.9:g.36597313A>G	(Likely) benign	1 lab	666650837f
10:26998656 PDSS1 G>A	10	26998656	26998656	G	A	PDSS1	c.426G>A	NM_014317.5	NP_055132.2:p.(Ala142=)	NC_000010.10:g.26998656G>A	(Likely) benign	1 lab	666e438238
9:108360429 FKTN G>A	9	108360429	108360429	G	A	FKTN	c.61G>A	NM_001351497.2	NP_001338426.1:p.(Ala21Thr)	NC_000009.11:g.108360429G>A	(Likely) benign	1 lab	667064d54b
19:17954586 JAK3 C>T	19	17954586	17954586	C	T	JAK3	c.308G>A	NM_000215.3	NP_000206.2:p.(Arg103His)	NC_000019.9:g.17954586C>T	(Likely) pathogenic	1 lab	6673c8cf31
4:187538983 FAT1 C>T	4	187538983	187538983	C	T	FAT1	c.8757G>A	NM_005245.4	NP_005236.2:p.(Thr2919=)	NC_000004.11:g.187538983C>T	(Likely) benign	1 lab	667b1f1cd5
1:26127020 SELENON G>A	1	26127020	26127020	G	A	SELENON	c.183+116G>A	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26127020G>A	(Likely) benign	1 lab	6683da3dae
8:41753843 ANK1 C>G	8	41753843	41753843	C	G	ANK1	c.126+30G>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41753843C>G	(Likely) benign	1 lab	66852f670e
1:5937162 NPHP4 C>T	1	5937162	5937162	C	T	NPHP4	c.2808G>A	NM_015102.5	NP_055917.1:p.(Thr936=)	NC_000001.10:g.5937162C>T	(Likely) benign	1 lab	66862840dd
1:236924422 ACTN2 C>T	1	236924422	236924422	C	T	ACTN2	c.2475C>T	NM_001103.3	NP_001094.1:p.(Thr825=)	NC_000001.10:g.236924422C>T	(Likely) benign	1 lab	668646b4e6
12:32949244 PKP2 A>G	12	32949244	32949244	A	G	PKP2	c.2300-12T>C	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949244A>G	(Likely) benign	1 lab	668f1a195d
6:32809582 PSMB8 G>T	6	32809582	32809582	G	T	PSMB8	c.538-70C>A	NM_148919.4	NP_683720.2:p.?	NC_000006.11:g.32809582G>T	(Likely) benign	1 lab	6698e60acd
15:43503710 EPB42 A>G	15	43503710	43503710	A	G	EPB42	c.543T>C	NM_000119.3	NP_000110.2:p.(Asn181=)	NC_000015.9:g.43503710A>G	(Likely) benign	1 lab	6699960313
10:79396252 KCNMA1 C>G	10	79396252	79396252	C	G	KCNMA1	c.378+771G>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.79396252C>G	(Likely) benign	1 lab	669fcff763
22:51159899 SHANK3 A>AG	22	51159899	51159900	A	AG	SHANK3	c.3863_3864insG	NM_001372044.1	NP_001358973.1:p.(His1288GlnfsTer83)	NC_000022.10:g.51159899_51159900insG	(Likely) pathogenic	1 lab	66a0046aab
20:33033083 ITCH C>A	20	33033083	33033083	C	A	ITCH	c.1089-9C>A	NM_001257137.3	NP_001244066.1:p.?	NC_000020.10:g.33033083C>A	(Likely) benign	1 lab	66a1d15b03
22:32200301 DEPDC5 C>T	22	32200301	32200301	C	T	DEPDC5	c.1143+92C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32200301C>T	(Likely) benign	1 lab	66a20a49d8
20:62076124 KCNQ2 G>A	20	62076124	62076124	G	A	KCNQ2	c.578C>T	NM_172107.4	NP_742105.1:p.(Ala193Val)	NC_000020.10:g.62076124G>A	(Likely) pathogenic	1 lab	66a86b4cad
15:31214513 FAN1 C>T	15	31214513	31214513	C	T	FAN1	c.2128C>T	NM_014967.5	NP_055782.3:p.(Arg710Ter)	NC_000015.9:g.31214513C>T	(Likely) pathogenic	1 lab	66a8a6a222
5:161322769 GABRA1 C>T	5	161322769	161322769	C	T	GABRA1	c.954C>T	NM_000806.5	NP_000797.2:p.(Ala318=)	NC_000005.9:g.161322769C>T	(Likely) benign	1 lab	66af4fff5d
3:168819860 MECOM C>T	3	168819860	168819860	C	T	MECOM	c.2195G>A	NM_001105078.4	NP_001098548.2:p.(Arg732His)	NC_000003.11:g.168819860C>T	VUS	1 lab	66b15fba2a
7:151573635 PRKAG2 T>C	7	151573635	151573635	T	C	PRKAG2	c.71A>G	NM_016203.4	NP_057287.2:p.(Lys24Arg)	NC_000007.13:g.151573635T>C	(Likely) benign	1 lab	66b19c2023
12:6443025 TNFRSF1A T>G	12	6443025	6443025	T	G	TNFRSF1A	c.200A>C	NM_001065.3	NP_001056.1:p.(Tyr67Ser)	NC_000012.11:g.6443025T>G	(Likely) pathogenic	1 lab	66b49a4970
12:88447355 CEP290 CA>C	12	88447355	88447371	CA	C	CEP290	c.7129+73del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88447371del	(Likely) benign	1 lab	66b5f02b5d
8:48866888 PRKDC T>C	8	48866888	48866888	T	C	PRKDC	c.508+10A>G	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48866888T>C	(Likely) benign	1 lab	66b903da25
20:57245596 STX16 G>A	20	57245596	57245596	G	A	STX16	c.585G>A	NM_001001433.2	NP_001001433.1:p.(Gln195=)	NC_000020.10:g.57245596G>A	(Likely) benign	1 lab	66bf9bcab8
1:5935102 NPHP4 C>T	1	5935102	5935102	C	T	NPHP4	c.2876G>A	NM_015102.5	NP_055917.1:p.(Arg959Gln)	NC_000001.10:g.5935102C>T	(Likely) benign	1 lab	66c03ee91c
7:100244678 ACTL6B G>A	7	100244678	100244678	G	A	ACTL6B	c.852C>T	NM_016188.5	NP_057272.1:p.(Tyr284=)	NC_000007.13:g.100244678G>A	(Likely) benign	1 lab	66c0db646f
6:31911430 C2 A>G	6	31911430	31911430	A	G	C2	c.1577A>G	NM_000063.4	NP_000054.2:p.(Lys526Arg)	NC_000006.11:g.31911430A>G	(Likely) benign	1 lab	66c390f937
2:32461493 NLRC4 T>TC	2	32461493	32461494	T	TC	NLRC4	c.2522-86_2522-85insG	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32461493_32461494insC	(Likely) benign	1 lab	66c6d7c348
9:35064135 VCP A>C	9	35064135	35064135	A	C	VCP	c.708+16T>G	NM_007126.3	NP_009057.1:p.?	NC_000009.11:g.35064135A>C	(Likely) benign	1 lab	66c96bde08
2:232156062 ARMC9 C>T	2	232156062	232156062	C	T	ARMC9	c.1627-4C>T	NM_025139.6	NP_079415.4:p.?	NC_000002.11:g.232156062C>T	(Likely) benign	1 lab	66cab65a1d
2:179517950 TTN G>A	2	179517950	179517950	G	A	TTN	c.38791+15C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517950G>A	(Likely) benign	1 lab	66d16edb3f
16:27751798 KATNIP A>T	16	27751798	27751798	A	T	KATNIP	c.2180A>T	NM_015202.3	NP_056017.3:p.(His727Leu)	NC_000016.9:g.27751798A>T	(Likely) benign	1 lab	66d232bdef
13:96212655 CLDN10 A>C	13	96212655	96212655	A	C	CLDN10	c.402A>C	NM_006984.5	NP_008915.1:p.(Gly134=)	NC_000013.10:g.96212655A>C	(Likely) benign	1 lab	66d2701fab
1:196874329 CFHR4 T>A	1	196874329	196874329	T	A	CFHR4	c.348T>A	NM_001201550.3	NP_001188479.1:p.(Asn116Lys)	NC_000001.10:g.196874329T>A	(Likely) benign	1 lab	66d34f79a5
1:32745599 LCK C>T	1	32745599	32745599	C	T	LCK	c.1195+4C>T	NM_001042771.2	NP_001036236.1:p.?	NC_000001.10:g.32745599C>T	(Likely) benign	1 lab	66d4ce62bd
2:152955482 CACNB4 G>C	2	152955482	152955482	G	C	CACNB4	c.44C>G	NM_000726.4	NP_000717.2:p.(Pro15Arg)	NC_000002.11:g.152955482G>C	(Likely) benign	1 lab	66dffaf98e
17:56289780 MKS1 T>C	17	56289780	56289780	T	C	MKS1	c.874A>G	NM_017777.3	NP_060247.2:p.(Lys292Glu)	NC_000017.10:g.56289780T>C	(Likely) benign	1 lab	66e77e838c
13:52509166 ATP7B C>A	13	52509166	52509166	C	A	ATP7B	c.4125-1G>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52509166C>A	(Likely) pathogenic	1 lab	66e8e25e46
14:91780042 CCDC88C G>A	14	91780042	91780042	G	A	CCDC88C	c.2118C>T	NM_001080414.4	NP_001073883.2:p.(Asn706=)	NC_000014.8:g.91780042G>A	(Likely) benign	1 lab	66ecd24448
10:75871796 VCL A>C	10	75871796	75871796	A	C	VCL	c.2875A>C	NM_014000.2	NP_054706.1:p.(Asn959His)	NC_000010.10:g.75871796A>C	VUS	1 lab	6700d7eb89
22:32301887 DEPDC5 G>A	22	32301887	32301887	G	A	DEPDC5	c.4437-83G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32301887G>A	(Likely) benign	1 lab	67034ebf66
9:103008904 INVS G>A	9	103008904	103008904	G	A	INVS	c.913G>A	NM_014425.5	NP_055240.2:p.(Val305Ile)	NC_000009.11:g.103008904G>A	(Likely) benign	1 lab	670d679fef
17:63532517 AXIN2 G>A	17	63532517	63532517	G	A	AXIN2	c.2062C>T	NM_004655.3	NP_004646.3:p.(Leu688=)	NC_000017.10:g.63532517G>A	(Likely) benign	1 lab	673fdf1816
2:73961561 TPRKB T>C	2	73961561	73961561	T	C	TPRKB	c.136A>G	NM_016058.5	NP_057142.1:p.(Thr46Ala)	NC_000002.11:g.73961561T>C	(Likely) benign	1 lab	6712f0d5bc
6:112510315 LAMA4 T>C	6	112510315	112510315	T	C	LAMA4	c.811A>G	NM_001105206.3	NP_001098676.2:p.(Ile271Val)	NC_000006.11:g.112510315T>C	VUS	1 lab	6713c65070
11:58978608 MPEG1 G>A	11	58978608	58978608	G	A	MPEG1	c.1731C>T	NM_001039396.2	NP_001034485.1:p.(Cys577=)	NC_000011.9:g.58978608G>A	(Likely) benign	1 lab	6718d7ce44
5:55192169 IL31RA T>C	5	55192169	55192169	T	C	IL31RA	c.773-9T>C	NM_139017.6	NP_620586.3:p.?	NC_000005.9:g.55192169T>C	(Likely) benign	1 lab	671e8e551a
4:106196702 TET2 T>C	4	106196702	106196702	T	C	TET2	c.5035T>C	NM_001127208.2	NP_001120680.1:p.(Tyr1679His)	NC_000004.11:g.106196702T>C	(Likely) benign	1 lab	672026fd5a
18:28648017 DSC2 T>A	18	28648017	28648017	T	A	DSC2				NC_000018.9:g.28648017T>A	(Likely) pathogenic	1 lab	6733f88f25
9:93626937 SYK A>C	9	93626937	93626937	A	C	SYK	c.784A>C	NM_003177.7	NP_003168.2:p.(Ile262Leu)	NC_000009.11:g.93626937A>C	(Likely) benign	1 lab	673621c670
15:86123770 AKAP13 A>T	15	86123770	86123770	A	T	AKAP13	c.2471A>T	NM_006738.6	NP_006729.4:p.(Tyr824Phe)	NC_000015.9:g.86123770A>T	(Likely) benign	1 lab	673d32006e
X:19613137 SH3KBP1 T>C	X	19613137	19613137	T	C	SH3KBP1	c.1081-19A>G	NM_001353891.2	NP_001340820.1:p.?	NC_000023.10:g.19613137T>C	(Likely) benign	1 lab	673eccecf6
4:79437155 FRAS1 C>T	4	79437155	79437155	C	T	FRAS1	c.10377C>T	NM_025074.7	NP_079350.5:p.(Thr3459=)	NC_000004.11:g.79437155C>T	(Likely) benign	1 lab	674444bea5
15:72040794 THSD4 G>A	15	72040794	72040794	G	A	THSD4	c.2276G>A	NM_024817.2	NP_079093.2:p.(Arg759His)	NC_000015.9:g.72040794G>A	VUS	1 lab	6746506e70
22:40815074 MRTFA G>A	22	40815074	40815074	G	A	MRTFA	c.1668C>T	NM_020831.6	NP_065882.2:p.(Thr556=)	NC_000022.10:g.40815074G>A	(Likely) benign	1 lab	674812666e
16:2168237 PKD1 CG>C	16	2168237	2168243	CG	C	PKD1	c.755del	NM_001009944.3	NP_001009944.3:p.(Pro252ArgfsTer38)	NC_000016.9:g.2168243del	(Likely) pathogenic	1 lab	6748e7039c
5:125929012 ALDH7A1 C>A	5	125929012	125929012	C	A	ALDH7A1	c.246+31G>T	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929012C>A	(Likely) benign	1 lab	674a811285
7:150655197 KCNH2 TCGATGTCGTCGGCCGA>T	7	150655197	150655216	TCGATGTCGTCGGCCGA	T	KCNH2	c.850_865del	NM_000238.4	NP_000229.1:p.(Ser284ArgfsTer71)	NC_000007.13:g.150655201_150655216del	(Likely) pathogenic	1 lab	674aa89405
12:110032832 MVK G>A	12	110032832	110032832	G	A	MVK	c.886-1G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110032832G>A	(Likely) pathogenic	1 lab	674da15a13
2:228128606 COL4A3 G>A	2	228128606	228128606	G	A	COL4A3	c.1261G>A	NM_000091.4	NP_000082.2:p.(Gly421Ser)	NC_000002.11:g.228128606G>A	(Likely) pathogenic	1 lab	674dd3221b
8:133152307 KCNQ3 A>G	8	133152307	133152307	A	G	KCNQ3	c.1568+16T>C	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133152307A>G	VUS	1 lab	675173c0c8
16:1262093 CACNA1H C>T	16	1262093	1262093	C	T	CACNA1H	c.4714C>T	NM_021098.3	NP_066921.2:p.(Arg1572Trp)	NC_000016.9:g.1262093C>T	(Likely) benign	1 lab	6756d7fb4c
12:66839047 GRIP1 A>C	12	66839047	66839047	A	C	GRIP1	c.1385+55T>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66839047A>C	(Likely) benign	1 lab	6757813076
1:154569762 ADAR C>T	1	154569762	154569762	C	T	ADAR	c.1935-19G>A	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154569762C>T	(Likely) benign	1 lab	675b986c45
14:53345398 FERMT2 T>C	14	53345398	53345398	T	C	FERMT2	c.865A>G	NM_001134999.1	NP_001128471.1:p.(Ile289Val)	NC_000014.8:g.53345398T>C	(Likely) benign	1 lab	67606fa956
1:160110965 ATP1A2 A>G	1	160110965	160110965	A	G	ATP1A2				NC_000001.10:g.160110965A>G	(Likely) benign	1 lab	6760762883
6:32946511 BRD2 G>A	6	32946511	32946511	G	A	BRD2	c.1841+346G>A	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946511G>A	(Likely) benign	1 lab	67610dd7c7
16:15932126 MYH11 C>G	16	15932126	15932126	C	G	MYH11	c.-17G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15932126C>G	(Likely) benign	1 lab	676113337b
1:43395267 SLC2A1 G>A	1	43395267	43395267	G	A	SLC2A1	c.864C>T	NM_006516.3	NP_006507.2:p.(Asn288=)	NC_000001.10:g.43395267G>A	(Likely) benign	1 lab	676627a002
14:102466253 DYNC1H1 C>T	14	102466253	102466253	C	T	DYNC1H1	c.3805-73C>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102466253C>T	(Likely) benign	1 lab	6769d873ff
2:15555722 NBAS G>C	2	15555722	15555722	G	C	NBAS	c.2885C>G	NM_015909.4	NP_056993.2:p.(Ala962Gly)	NC_000002.11:g.15555722G>C	(Likely) benign	1 lab	676ec73a84
2:179401780 TTN T>C	2	179401780	179401780	T	C	TTN	c.73236A>G	NM_133432.3	NP_597676.3:p.(Arg24412=)	NC_000002.11:g.179401780T>C	(Likely) benign	1 lab	6770c259bb
6:123594136 TRDN C>T	6	123594136	123594136	C	T	TRDN	c.1645G>A	NM_006073.4	NP_006064.2:p.(Glu549Lys)	NC_000006.11:g.123594136C>T	VUS	1 lab	677260990f
16:1245034 CACNA1H G>A	16	1245034	1245034	G	A	CACNA1H	c.362G>A	NM_021098.3	NP_066921.2:p.(Arg121Gln)	NC_000016.9:g.1245034G>A	(Likely) benign	1 lab	6772a508ec
17:73736549 ITGB4 A>T	17	73736549	73736549	A	T	ITGB4	c.2550+7A>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73736549A>T	(Likely) benign	1 lab	6772afc535
16:2122351 TSC2 C>T	16	2122351	2122351	C	T	TSC2	c.2207C>T	NM_000548.3	NP_000539.2:p.(Ala736Val)	NC_000016.9:g.2122351C>T	(Likely) benign	1 lab	6779ef3a06
7:2956920 CARD11 T>C	7	2956920	2956920	T	C	CARD11	c.2703+4A>G	NM_032415.6	NP_115791.3:p.?	NC_000007.13:g.2956920T>C	(Likely) benign	1 lab	677ae20eb1
2:166892444 SCN1A TAAA>T	2	166892444	166892459	TAAA	T	SCN1A	c.3429+111_3429+113del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166892457_166892459del	(Likely) benign	1 lab	677b0b7f49
17:41222723 BRCA1 T>C	17	41222723	41222723	T	C	BRCA1	c.4986+222A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41222723T>C	(Likely) benign	1 lab	67ae5d2183
22:29130403 CHEK2 A>G	22	29130403	29130403	A	G	CHEK2	c.307T>C	NM_007194.4	NP_009125.1:p.(Phe103Leu)	NC_000022.10:g.29130403A>G	VUS	1 lab	d0c03a16cf
1:154407652 IL6R C>T	1	154407652	154407652	C	T	IL6R	c.807+20C>T	NM_000565.4	NP_000556.1:p.?	NC_000001.10:g.154407652C>T	(Likely) benign	1 lab	6781361072
2:179454880 TTN G>A	2	179454880	179454880	G	A	TTN	c.61572C>T	NM_001267550.1	NP_001254479.1:p.(Asp20524=)	NC_000002.11:g.179454880G>A	(Likely) benign	1 lab	6782b00216
3:9495540 SETD5 A>G	3	9495540	9495540	A	G	SETD5	c.2464A>G	NM_001080517.3	NP_001073986.1:p.(Lys822Glu)	NC_000003.11:g.9495540A>G	VUS	1 lab	d0c2797378
2:167162340 SCN9A G>T	2	167162340	167162340	G	T	SCN9A	c.558C>A	NM_002977.3	NP_002968.1:p.(Asp186Glu)	NC_000002.11:g.167162340G>T	VUS	1 lab	d0c388c489
7:147964249 CNTNAP2 G>A	7	147964249	147964249	G	A	CNTNAP2	c.3475+31G>A	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147964249G>A	(Likely) benign	1 lab	678f5d8c13
10:43619222 RET C>T	10	43619222	43619222	C	T	RET	c.2905C>T	NM_020975.4	NP_066124.1:p.(Arg969Trp)	NC_000010.10:g.43619222C>T	(Likely) pathogenic	1 lab	67901fccc5
11:6630007 ILK A>C	11	6630007	6630007	A	C	ILK	c.435A>C	NM_001014795.3	NP_001014795.1:p.(Arg145Ser)	NC_000011.9:g.6630007A>C	(Likely) benign	1 lab	67909e15fc
9:6556086 GLDC AT>A	9	6556086	6556099	AT	A	GLDC	c.2202+66del	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6556099del	(Likely) benign	1 lab	6793e46385
1:57411525 C8B G>A	1	57411525	57411525	G	A	C8B	c.1074C>T	NM_000066.2	NP_000057.1:p.(Leu358=)	NC_000001.10:g.57411525G>A	(Likely) benign	1 lab	679eb6d99c
X:153762771 G6PD G>C	X	153762771	153762771	G	C	G6PD	c.486-60C>G	NM_001042351.2	NP_001035810.1:p.?	NC_000023.10:g.153762771G>C	(Likely) benign	1 lab	67a2bce362
6:51914970 PKHD1 G>A	6	51914970	51914970	G	A	PKHD1	c.2264C>T	NM_138694.4	NP_619639.3:p.(Pro755Leu)	NC_000006.11:g.51914970G>A	(Likely) pathogenic	1 lab	67b3e1aad1
19:55667644 TNNI3 G>C	19	55667644	55667644	G	C	TNNI3	c.207C>G	NM_000363.4	NP_000354.4:p.(Arg69=)	NC_000019.9:g.55667644G>C	(Likely) benign	1 lab	67c03ebc22
2:202074295 CASP10 CT>C	2	202074295	202074303	CT	C	CASP10	c.1415+18del	NM_032977.4	NP_116759.2:p.?	NC_000002.11:g.202074303del	(Likely) benign	1 lab	67c0999f04
5:169098136 DOCK2 G>T	5	169098136	169098136	G	T	DOCK2	c.279G>T	NM_004946.3	NP_004937.1:p.(Thr93=)	NC_000005.9:g.169098136G>T	(Likely) benign	1 lab	67c5aa874b
12:103271326 PAH G>A	12	103271326	103271326	G	A	PAH	c.355C>T	NM_000277.3	NP_000268.1:p.(Pro119Ser)	NC_000012.11:g.103271326G>A	(Likely) pathogenic	1 lab	67c771941a
2:203241529 BMPR2 G>A	2	203241529	203241529	G	A	BMPR2	c.-669G>A	NM_001204.6	NP_001195.2:p.?	NC_000002.11:g.203241529G>A	(Likely) benign	1 lab	67c7cb2f8f
1:183532580 NCF2 G>T	1	183532580	183532580	G	T	NCF2	c.1167C>A	NM_000433.3	NP_000424.2:p.(His389Gln)	NC_000001.10:g.183532580G>T	(Likely) benign	1 lab	67ce07265d
17:41262549 BRCA1 G>A	17	41262549	41262549	G	A	BRCA1	c.135-3999C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41262549G>A	(Likely) benign	1 lab	67ce402a71
1:247599139 NLRP3 G>C	1	247599139	247599139	G	C	NLRP3	c.2493-133G>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247599139G>C	(Likely) benign	1 lab	67d013c83c
13:39262769 FREM2 G>A	13	39262769	39262769	G	A	FREM2	c.1288G>A	NM_207361.6	NP_997244.4:p.(Val430Met)	NC_000013.10:g.39262769G>A	(Likely) benign	1 lab	67d4adb106
6:32065863 TNXB C>T	6	32065863	32065863	C	T	TNXB	c.113G>A	NM_019105.8	NP_061978.6:p.(Arg38Gln)	NC_000006.11:g.32065863C>T	(Likely) benign	1 lab	67dc0dd3a9
6:51732923 PKHD1 CAG>C	6	51732923	51732926	CAG	C	PKHD1	c.7487-18_7487-17del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51732925_51732926del	(Likely) benign	1 lab	67dc1e20e9
8:68396028 CPA6 A>G	8	68396028	68396028	A	G	CPA6	c.813T>C	NM_020361.5	NP_065094.3:p.(Asn271=)	NC_000008.10:g.68396028A>G	(Likely) benign	1 lab	67de5d981f
10:79163746 KCNMA1 C>T	10	79163746	79163746	C	T	KCNMA1	c.414G>A	NM_001322830.2	NP_001309759.1:p.(Ala138=)	NC_000010.10:g.79163746C>T	(Likely) benign	1 lab	67e074493d
16:88877983 APRT G>A	16	88877983	88877983	G	A	APRT	c.162C>T	NM_000485.3	NP_000476.1:p.(His54=)	NC_000016.9:g.88877983G>A	(Likely) benign	1 lab	67e0d70da3
19:10476495 TYK2 C>T	19	10476495	10476495	C	T	TYK2	c.709G>A	NM_003331.4	NP_003322.3:p.(Val237Ile)	NC_000019.9:g.10476495C>T	(Likely) benign	1 lab	67e2202caf
1:152279798 FLG G>A	1	152279798	152279798	G	A	FLG	c.7564C>T	NM_002016.2	NP_002007.1:p.(Gln2522Ter)	NC_000001.10:g.152279798G>A	(Likely) pathogenic	1 lab	d0c550d717
10:27355403 ANKRD26 CCA>C	10	27355403	27355405	CCA	C	ANKRD26	c.1269+11_1269+12del	NM_014915.3	NP_055730.2:p.?	NC_000010.10:g.27355404_27355405del	(Likely) benign	1 lab	67e3e794a6
6:33411583 SYNGAP1 G>A	6	33411583	33411583	G	A	SYNGAP1	c.3254G>A	NM_006772.3	NP_006763.2:p.(Arg1085Gln)	NC_000006.11:g.33411583G>A	(Likely) benign	1 lab	67e6e5f12c
5:89933462 ADGRV1 A>G	5	89933462	89933462	A	G	ADGRV1	c.2017-80A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89933462A>G	(Likely) benign	1 lab	67eb3ecb54
1:158655315 SPTA1 T>A	1	158655315	158655315	T	A	SPTA1	c.25-178A>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158655315T>A	(Likely) benign	1 lab	67efd12c18
16:27761090 KATNIP G>T	16	27761090	27761090	G	T	KATNIP	c.2809G>T	NM_015202.3	NP_056017.3:p.(Asp937Tyr)	NC_000016.9:g.27761090G>T	(Likely) benign	1 lab	67f15b77b9
15:93528950 CHD2 T>C	15	93528950	93528950	T	C	CHD2	c.3413+47T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93528950T>C	(Likely) benign	1 lab	67f4836279
13:39435425 FREM2 G>A	13	39435425	39435425	G	A	FREM2	c.7520-143G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435425G>A	(Likely) benign	1 lab	67f571cf9c
18:55362816 ATP8B1 G>A	18	55362816	55362816	G	A	ATP8B1	c.699-52C>T	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55362816G>A	(Likely) benign	1 lab	68da75fbf9
10:69934039 MYPN G>A	10	69934039	69934039	G	A	MYPN	c.2190G>A	NM_032578.3	NP_115967.2:p.(Thr730=)	NC_000010.10:g.69934039G>A	(Likely) benign	1 lab	67f5f923d4
X:47445021 SYN1 C>G	X	47445021	47445021	C	G	SYN1	c.775-8121G>C	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47445021C>G	(Likely) benign	1 lab	67f6a72de4
7:128494599 FLNC C>A	7	128494599	128494599	C	A	FLNC	c.6860C>A	NM_001458.4	NP_001449.3:p.(Thr2287Lys)	NC_000007.13:g.128494599C>A	VUS	1 lab	67fa974413
15:77325272 PSTPIP1 C>T	15	77325272	77325272	C	T	PSTPIP1	c.908C>T	NM_003978.3	NP_003969.2:p.(Pro303Leu)	NC_000015.9:g.77325272C>T	(Likely) benign	1 lab	67fdeabf88
10:104416011 TRIM8 C>T	10	104416011	104416011	C	T	TRIM8	c.933-16C>T	NM_030912.2	NP_112174.2:p.?	NC_000010.10:g.104416011C>T	(Likely) benign	1 lab	67fe3b41ee
16:56904156 SLC12A3 G>A	16	56904156	56904156	G	A	SLC12A3	c.741+9G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56904156G>A	(Likely) benign	1 lab	67ff384cb2
2:152348295 NEB A>G	2	152348295	152348295	A	G	NEB	c.25163-6T>C	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152348295A>G	(Likely) benign	1 lab	68017736a0
20:57415396 GNAS TC>T	20	57415396	57415401	TC	T	GNAS	c.240del	NM_016592.5	NP_057676.1:p.(Glu81AsnfsTer21)	NC_000020.10:g.57415401del	VUS	1 lab	d0c787ee72
1:160275210 COPA A>G	1	160275210	160275210	A	G	COPA	c.1667+13T>C	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160275210A>G	(Likely) benign	1 lab	680d8166e5
5:89988699 ADGRV1 G>GT	5	89988699	89988705	G	GT	ADGRV1	c.7133+102dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89988705dup	(Likely) benign	1 lab	680e98025d
2:129075877 HS6ST1 G>T	2	129075877	129075877	G	T	HS6ST1	c.261C>A	NM_004807.3	NP_004798.3:p.(Asp87Glu)	NC_000002.11:g.129075877G>T	(Likely) benign	1 lab	680f582e46
15:43512847 EPB42 AC>A	15	43512847	43512857	AC	A	EPB42	c.10+166del	NM_001114134.2	NP_001107606.1:p.?	NC_000015.9:g.43512857del	(Likely) benign	1 lab	6813d8bc57
19:54301477 NLRP12 C>T	19	54301477	54301477	C	T	NLRP12	c.2927+20G>A	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54301477C>T	(Likely) benign	1 lab	6814b1324f
10:79396401 KCNMA1 AC>A	10	79396401	79396406	AC	A	KCNMA1	c.378+621del	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396406del	(Likely) benign	1 lab	681509a6f7
3:123337506 MYLK C>G	3	123337506	123337506	C	G	MYLK	c.5480G>C	NM_053025.3	NP_444253.3:p.(Arg1827Thr)	NC_000003.11:g.123337506C>G	VUS	1 lab	6816579561
1:11087386 MASP2 A>G	1	11087386	11087386	A	G	MASP2	c.1617T>C	NM_006610.4	NP_006601.2:p.(Asn539=)	NC_000001.10:g.11087386A>G	(Likely) benign	1 lab	6818d9dc4d
16:81887921 PLCG2 G>C	16	81887921	81887921	G	C	PLCG2	c.194-128G>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81887921G>C	(Likely) benign	1 lab	681ae9cdd0
X:48542824 WAS A>C	X	48542824	48542824	A	C	WAS	c.273+12A>C	NM_000377.2	NP_000368.1:p.?	NC_000023.10:g.48542824A>C	VUS	1 lab	682662fefa
1:185286071 IVNS1ABP C>T	1	185286071	185286071	C	T	IVNS1ABP	c.-247+14G>A	NM_006469.5	NP_006460.2:p.?	NC_000001.10:g.185286071C>T	(Likely) benign	1 lab	6827585757
6:90660322 BACH2 C>T	6	90660322	90660322	C	T	BACH2	c.1503G>A	NM_021813.4	NP_068585.1:p.(Pro501=)	NC_000006.11:g.90660322C>T	(Likely) benign	1 lab	682c6145cd
1:235883969 LYST C>A	1	235883969	235883969	C	A	LYST	c.9552G>T	NM_000081.3	NP_000072.2:p.(Leu3184Phe)	NC_000001.10:g.235883969C>A	(Likely) benign	1 lab	682caef188
1:120548094 NOTCH2 T>C	1	120548094	120548094	T	C	NOTCH2	c.273A>G	NM_024408.4	NP_077719.2:p.(Arg91=)	NC_000001.10:g.120548094T>C	(Likely) benign	1 lab	6831ac9586
1:151787128 RORC G>A	1	151787128	151787128	G	A	RORC	c.855C>T	NM_005060.4	NP_005051.2:p.(Cys285=)	NC_000001.10:g.151787128G>A	(Likely) benign	1 lab	683c09a810
2:202575958 ALS2 A>G	2	202575958	202575958	A	G	ALS2	c.4005-127T>C	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202575958A>G	(Likely) benign	1 lab	6840b1d077
17:6329982 AIPL1 T>G	17	6329982	6329982	T	G	AIPL1	c.737A>C	NM_014336.5	NP_055151.3:p.(Tyr246Ser)	NC_000017.10:g.6329982T>G	VUS	1 lab	d0c87d2276
9:135158547 SETX CA>C	9	135158547	135158559	CA	C	SETX	c.6546+103del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135158559del	(Likely) benign	1 lab	6851d40a36
1:200569583 KIF14 C>T	1	200569583	200569583	C	T	KIF14	c.2201G>A	NM_014875.3	NP_055690.1:p.(Arg734Gln)	NC_000001.10:g.200569583C>T	(Likely) benign	1 lab	68536cf0a8
10:112541229 RBM20 C>T	10	112541229	112541229	C	T	RBM20	c.862C>T	NM_001134363.1	NP_001127835.1:p.(Gln288Ter)	NC_000010.10:g.112541229C>T	(Likely) pathogenic	1 lab	6853b27aa0
7:143018474 CLCN1 C>A	7	143018474	143018474	C	A	CLCN1	c.450C>A	NM_000083.3	NP_000074.3:p.(Tyr150Ter)	NC_000007.13:g.143018474C>A	(Likely) pathogenic	1 lab	6859571854
8:116631628 TRPS1 G>A	8	116631628	116631628	G	A	TRPS1	c.697C>T	NM_014112.5	NP_054831.2:p.(Gln233Ter)	NC_000008.10:g.116631628G>A	(Likely) pathogenic	1 lab	685a296337
2:166848635 SCN1A A>G	2	166848635	166848635	A	G	SCN1A	c.5150T>C	NM_001165963.3	NP_001159435.1:p.(Leu1717Pro)	NC_000002.11:g.166848635A>G	(Likely) pathogenic	1 lab	685f50b22d
12:54910783 NCKAP1L G>A	12	54910783	54910783	G	A	NCKAP1L	c.1095+7G>A	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54910783G>A	(Likely) benign	1 lab	68655d32b5
X:128723046 OCRL G>A	X	128723046	128723046	G	A	OCRL	c.2469+56G>A	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128723046G>A	(Likely) benign	1 lab	68656ec95a
8:145641347 SLC39A4 G>A	8	145641347	145641347	G	A	SLC39A4	c.321C>T	NM_130849.4	NP_570901.3:p.(Pro107=)	NC_000008.10:g.145641347G>A	(Likely) benign	1 lab	68669c541e
1:161519476 FCGR3A C>T	1	161519476	161519476	C	T	FCGR3A	c.355+11G>A	NM_000569.7	NP_000560.6:p.?	NC_000001.10:g.161519476C>T	(Likely) benign	1 lab	6869b81c6c
X:13776581 OFD1 T>A	X	13776581	13776581	T	A	OFD1	c.1654+14T>A	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13776581T>A	(Likely) benign	1 lab	686d0b0f2d
9:5065005 JAK2 T>G	9	5065005	5065005	T	G	JAK2	c.1179T>G	NM_004972.3	NP_004963.1:p.(Leu393=)	NC_000009.11:g.5065005T>G	(Likely) benign	1 lab	6874ee2283
13:32954415 BRCA2 T>C	13	32954415	32954415	T	C	BRCA2	c.9256+133T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954415T>C	(Likely) benign	1 lab	6875e96bd5
22:31010321 TCN2 T>C	22	31010321	31010321	T	C	TCN2				NC_000022.10:g.31010321T>C	(Likely) benign	1 lab	687732f7bf
5:168112707 SLIT3 G>A	5	168112707	168112707	G	A	SLIT3	c.3540C>T	NM_003062.3	NP_003053.1:p.(Ala1180=)	NC_000005.9:g.168112707G>A	(Likely) benign	1 lab	687b7ab2de
2:113890284 IL1RN G>A	2	113890284	113890284	G	A	IL1RN	c.268G>A	NM_173843.3	NP_776215.1:p.(Ala90Thr)	NC_000002.11:g.113890284G>A	(Likely) benign	1 lab	687ca837a4
1:3765282 CEP104 C>A	1	3765282	3765282	C	A	CEP104	c.177G>T	NM_014704.3	NP_055519.1:p.(Leu59=)	NC_000001.10:g.3765282C>A	(Likely) benign	1 lab	687db1d3c0
7:36478819 ANLN T>C	7	36478819	36478819	T	C	ANLN	c.2890T>C	NM_018685.5	NP_061155.2:p.(Phe964Leu)	NC_000007.13:g.36478819T>C	(Likely) benign	1 lab	687ed397ae
12:30784810 IPO8 G>C	12	30784810	30784810	G	C	IPO8	c.3016+19C>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30784810G>C	(Likely) benign	1 lab	68807ea3cd
7:128498093 FLNC C>T	7	128498093	128498093	C	T	FLNC	c.7812C>T	NM_001458.4	NP_001449.3:p.(His2604=)	NC_000007.13:g.128498093C>T	(Likely) benign	1 lab	6883fbc9d0
2:168100443 XIRP2 C>A	2	168100443	168100443	C	A	XIRP2	c.2541C>A	NM_152381.6	NP_689594.4:p.(Thr847=)	NC_000002.11:g.168100443C>A	(Likely) benign	1 lab	688649e803
7:151949698 KMT2C G>T	7	151949698	151949698	G	T	KMT2C	c.1402C>A	NM_170606.3	NP_733751.2:p.(Pro468Thr)	NC_000007.13:g.151949698G>T	(Likely) benign	1 lab	d0c953b1f6
10:121435992 BAG3 G>A	10	121435992	121435992	G	A	BAG3	c.926G>A	NM_004281.3	NP_004272.2:p.(Arg309Gln)	NC_000010.10:g.121435992G>A	(Likely) benign	1 lab	688b93839d
15:42126939 JMJD7-PLA2G4B G>T	15	42126939	42126939	G	T	JMJD7-PLA2G4B	c.66G>T	NM_005090.3	NP_005081.1:p.(Glu22Asp)	NC_000015.9:g.42126939G>T	(Likely) benign	1 lab	688c3fb32f
12:6450845 TNFRSF1A C>T	12	6450845	6450845	C	T	TNFRSF1A	c.39+97G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6450845C>T	(Likely) benign	1 lab	68958de505
18:60025458 TNFRSF11A G>GT	18	60025458	60025473	G	GT	TNFRSF11A	c.428-8dup	NM_003839.2	NP_003830.1:p.?	NC_000018.9:g.60025473dup	(Likely) benign	1 lab	6899d3ce92
16:51172713 SALL1 G>T	16	51172713	51172713	G	T	SALL1	c.3420C>A	NM_002968.2	NP_002959.2:p.(Gly1140=)	NC_000016.9:g.51172713G>T	(Likely) benign	1 lab	68a36241ae
3:184072593 CLCN2 G>T	3	184072593	184072593	G	T	CLCN2	c.1396+99C>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184072593G>T	(Likely) benign	1 lab	68a3e0612e
4:20525461 SLIT2 A>G	4	20525461	20525461	A	G	SLIT2	c.1209A>G	NM_004787.4	NP_004778.1:p.(Leu403=)	NC_000004.11:g.20525461A>G	(Likely) benign	1 lab	68a490cd00
16:2150429 PKD1 A>G	16	2150429	2150429	A	G	PKD1	c.9536T>C	NM_001009944.2	NP_001009944.2:p.(Val3179Ala)	NC_000016.9:g.2150429A>G	VUS	1 lab	68a53c7a81
17:78179401 CARD14 G>A	17	78179401	78179401	G	A	CARD14	c.2641G>A	NM_024110.4	NP_077015.2:p.(Gly881Arg)	NC_000017.10:g.78179401G>A	(Likely) benign	1 lab	68a6797886
X:106845063 FRMPD3 C>T	X	106845063	106845063	C	T	FRMPD3	c.3893C>T	NM_032428.2	NP_115804.1:p.(Thr1298Ile)	NC_000023.10:g.106845063C>T	(Likely) benign	1 lab	68a7a23286
X:18627043 CDKL5 AT>A	X	18627043	18627044	AT	A	CDKL5	c.2046+12del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18627044del	(Likely) benign	1 lab	68a7bf4311
14:23886893 MYH7 T>G	14	23886893	23886893	T	G	MYH7	c.4172A>C	NM_000257.2	NP_000248.2:p.(Lys1391Thr)	NC_000014.8:g.23886893T>G	VUS	1 lab	68ac1a4f2d
17:61912052 SMARCD2 G>A	17	61912052	61912052	G	A	SMARCD2	c.819+13C>T	NM_001098426.2	NP_001091896.1:p.?	NC_000017.10:g.61912052G>A	(Likely) benign	1 lab	68ac517c58
2:166210609 SCN2A T>A	2	166210609	166210609	T	A	SCN2A	c.2920-93T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166210609T>A	(Likely) benign	1 lab	68ad028229
X:153996720 DKC1 G>A	X	153996720	153996720	G	A	DKC1	c.771+13G>A	NM_001363.3	NP_001354.1:p.?	NC_000023.10:g.153996720G>A	(Likely) benign	1 lab	68b0fafec4
10:14950592 DCLRE1C C>T	10	14950592	14950592	C	T	DCLRE1C	c.1894G>A	NM_001033855.1	NP_001029027.1:p.(Glu632Lys)	NC_000010.10:g.14950592C>T	(Likely) benign	1 lab	68b41e41e8
2:166179836 SCN2A G>T	2	166179836	166179836	G	T	SCN2A	c.1842G>T	NM_021007.3	NP_066287.2:p.(Pro614=)	NC_000002.11:g.166179836G>T	(Likely) benign	1 lab	68b5a1fcf5
1:11294230 MTOR G>A	1	11294230	11294230	G	A	MTOR	c.2301C>T	NM_004958.3	NP_004949.1:p.(Leu767=)	NC_000001.10:g.11294230G>A	(Likely) benign	1 lab	68b6e1ffa5
14:65270454 SPTB A>G	14	65270454	65270454	A	G	SPTB	c.345T>C	NM_001024858.3	NP_001020029.1:p.(Asn115=)	NC_000014.8:g.65270454A>G	(Likely) benign	1 lab	68c2f1e4a7
8:116635942 TRPS1 C>T	8	116635942	116635942	C	T	TRPS1	c.-78G>A	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116635942C>T	(Likely) benign	1 lab	68c3037c83
X:99551304 PCDH19 C>A	X	99551304	99551304	C	A	PCDH19	c.3418G>T	NM_001184880.2	NP_001171809.1:p.(Val1140Leu)	NC_000023.10:g.99551304C>A	(Likely) benign	1 lab	68c351acdb
16:3298988 MEFV T>C	16	3298988	3298988	T	C	MEFV	c.1277A>G	NM_000243.2	NP_000234.1:p.(Gln426Arg)	NC_000016.9:g.3298988T>C	VUS	1 lab	68c585d890
7:156802349 MNX1 C>G	7	156802349	156802349	C	G	MNX1	c.691+5G>C	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156802349C>G	(Likely) pathogenic	1 lab	68c7775b8f
16:2547823 TBC1D24 G>A	16	2547823	2547823	G	A	TBC1D24	c.983+95G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547823G>A	(Likely) benign	1 lab	68cc51f9eb
14:92555167 ATXN3 A>G	14	92555167	92555167	A	G	ATXN3	c.388-6T>C	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92555167A>G	(Likely) benign	1 lab	68ce86e2b1
16:75589899 TMEM231 G>C	16	75589899	75589899	G	C	TMEM231	c.271C>G	NM_001077416.2	NP_001070884.2:p.(Arg91Gly)	NC_000016.9:g.75589899G>C	(Likely) benign	1 lab	68ceff82ca
X:110644274 DCX C>T	X	110644274	110644274	C	T	DCX	c.649G>A	NM_178153.3	NP_835366.1:p.(Ala217Thr)	NC_000023.10:g.110644274C>T	VUS	1 lab	d0ca519b79
5:7883859 MTRR T>C	5	7883859	7883859	T	C	MTRR	c.903+469T>C	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7883859T>C	(Likely) pathogenic	1 lab	68d5c4fe6e
8:133459227 KCNQ3 G>A	8	133459227	133459227	G	A	KCNQ3	c.386+33167C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133459227G>A	(Likely) benign	1 lab	68d74162e7
15:57929969 GCOM1 A>G	15	57929969	57929969	A	G	GCOM1	c.1010A>G	NM_001285900.3	NP_001272829.1:p.(Glu337Gly)	NC_000015.9:g.57929969A>G	(Likely) benign	1 lab	68deb07dc0
17:40933223 WNK4 C>A	17	40933223	40933223	C	A	WNK4	c.507C>A	NM_032387.5	NP_115763.2:p.(Pro169=)	NC_000017.10:g.40933223C>A	(Likely) benign	1 lab	68dec672a8
2:202122908 CASP8 T>C	2	202122908	202122908	T	C	CASP8	c.-26-8276T>C	NM_001228.4	NP_001219.2:p.?	NC_000002.11:g.202122908T>C	(Likely) benign	1 lab	68e16b04ed
2:31560583 XDH T>C	2	31560583	31560583	T	C	XDH	c.3875A>G	NM_000379.4	NP_000370.2:p.(Lys1292Arg)	NC_000002.11:g.31560583T>C	(Likely) benign	1 lab	68e23a0305
13:108862010 LIG4 C>T	13	108862010	108862010	C	T	LIG4	c.1607G>A	NM_002312.3	NP_002303.2:p.(Ser536Asn)	NC_000013.10:g.108862010C>T	(Likely) benign	1 lab	68e2e290f8
2:179518584 TTN G>T	2	179518584	179518584	G	T	TTN	c.38505C>A	NM_001267550.1	NP_001254479.1:p.(Pro12835=)	NC_000002.11:g.179518584G>T	(Likely) benign	1 lab	68e2e34b19
X:128944884 ZDHHC9 G>A	X	128944884	128944884	G	A	ZDHHC9	c.975C>T	NM_001008222.3	NP_001008223.1:p.(Ser325=)	NC_000023.10:g.128944884G>A	(Likely) benign	1 lab	68e5d857d1
19:36340259 NPHS1 G>A	19	36340259	36340259	G	A	NPHS1	c.719C>T	NM_004646.3	NP_004637.1:p.(Pro240Leu)	NC_000019.9:g.36340259G>A	VUS	1 lab	6b4d817778
X:123480147 SH2D1A C>T	X	123480147	123480147	C	T	SH2D1A	c.-346C>T	NM_002351.4	NP_002342.1:p.?	NC_000023.10:g.123480147C>T	(Likely) benign	1 lab	68e6f3c866
16:2150581 PKD1 G>T	16	2150581	2150581	G	T	PKD1	c.9398-14C>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2150581G>T	(Likely) benign	1 lab	68e8b81fc9
21:47545865 COL6A2 C>T	21	47545865	47545865	C	T	COL6A2	c.2136C>T	NM_058175.2	NP_478055.2:p.(Asp712=)	NC_000021.8:g.47545865C>T	(Likely) benign	1 lab	68ec21ec09
10:95552925 LGI1 T>C	10	95552925	95552925	T	C	LGI1	c.674-18T>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95552925T>C	(Likely) benign	1 lab	6908803fc1
2:216284009 FN1 C>T	2	216284009	216284009	C	T	FN1	c.1775G>A	NM_212482.2	NP_997647.1:p.(Arg592His)	NC_000002.11:g.216284009C>T	(Likely) benign	1 lab	68ee0ccb29
16:2143104 PKD1 G>T	16	2143104	2143104	G	T	PKD1	c.11017-10C>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2143104G>T	(Likely) pathogenic	1 lab	68f1803447
3:10078042 FANCD2 G>A	3	10078042	10078042	G	A	FANCD2	c.491+19G>A	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10078042G>A	(Likely) benign	1 lab	68f189048d
16:2140946 PKD1 G>A	16	2140946	2140946	G	A	PKD1	c.11942C>T	NM_001009944.2	NP_001009944.2:p.(Ala3981Val)	NC_000016.9:g.2140946G>A	VUS	1 lab	68f1ec430f
10:3197902 PITRM1 G>A	10	3197902	3197902	G	A	PITRM1	c.1406C>T	NM_001242309.1	NP_001229238.1:p.(Thr469Ile)	NC_000010.10:g.3197902G>A	VUS	1 lab	d0cd138c96
4:78979275 FRAS1 C>T	4	78979275	78979275	C	T	FRAS1	c.76+36C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979275C>T	(Likely) benign	1 lab	68fdee6488
11:124757118 ROBO4 C>T	11	124757118	124757118	C	T	ROBO4	c.2199-9G>A	NM_019055.6	NP_061928.4:p.?	NC_000011.9:g.124757118C>T	(Likely) benign	1 lab	68ffa1a546
1:5934942 NPHP4 G>A	1	5934942	5934942	G	A	NPHP4	c.3036C>T	NM_015102.5	NP_055917.1:p.(Pro1012=)	NC_000001.10:g.5934942G>A	(Likely) benign	1 lab	69002a93e3
2:225343040 CUL3 G>A	2	225343040	225343040	G	A	CUL3	c.2052C>T	NM_003590.5	NP_003581.1:p.(Ser684=)	NC_000002.11:g.225343040G>A	(Likely) benign	1 lab	69027243c8
2:98351928 ZAP70 C>T	2	98351928	98351928	C	T	ZAP70	c.1289+9C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98351928C>T	(Likely) benign	1 lab	69067f70f3
11:20649626 SLC6A5 A>T	11	20649626	20649626	A	T	SLC6A5	c.1496A>T	NM_004211.5	NP_004202.4:p.(Tyr499Phe)	NC_000011.9:g.20649626A>T	(Likely) benign	1 lab	690aa4229e
1:977028 AGRN G>T	1	977028	977028	G	T	AGRN				NC_000001.10:g.977028G>T	(Likely) benign	1 lab	690b3db1cf
X:99661952 PCDH19 C>T	X	99661952	99661952	C	T	PCDH19	c.1644G>A	NM_001184880.2	NP_001171809.1:p.(Thr548=)	NC_000023.10:g.99661952C>T	(Likely) benign	1 lab	690c2713f2
16:8988386 USP7 C>CGG	16	8988386	8988395	C	CGG	USP7	c.2905+19_2905+20dup	NM_001286458.2	NP_001273387.1:p.?	NC_000016.9:g.8988394_8988395dup	(Likely) benign	1 lab	690de8d77c
X:117718720 DOCK11 G>A	X	117718720	117718720	G	A	DOCK11	c.1618G>A	NM_144658.4	NP_653259.3:p.(Gly540Ser)	NC_000023.10:g.117718720G>A	VUS	1 lab	d0d12b6531
16:3306514 MEFV T>C	16	3306514	3306514	T	C	MEFV	c.74A>G	NM_000243.2	NP_000234.1:p.(Lys25Arg)	NC_000016.9:g.3306514T>C	VUS	1 lab	6912838b30
19:3600435 TBXA2R G>C	19	3600435	3600435	G	C	TBXA2R	c.198C>G	NM_001060.5	NP_001051.1:p.(Phe66Leu)	NC_000019.9:g.3600435G>C	(Likely) benign	1 lab	691d68d17d
6:108243125 SEC63 C>CGGG	6	108243125	108243126	C	CGGG	SEC63	c.340-13_340-12insCCC	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243126insGGG	(Likely) benign	1 lab	691e61f84d
13:32912402 BRCA2 A>G	13	32912402	32912402	A	G	BRCA2	c.3910A>G	NM_000059.3	NP_000050.2:p.(Thr1304Ala)	NC_000013.10:g.32912402A>G	VUS	1 lab	69218ae875
12:103248928 PAH G>A	12	103248928	103248928	G	A	PAH	c.692C>T	NM_000277.3	NP_000268.1:p.(Ser231Phe)	NC_000012.11:g.103248928G>A	(Likely) pathogenic	1 lab	6928eb5fb5
10:21097599 NEBL G>A	10	21097599	21097599	G	A	NEBL	c.2612-11C>T	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21097599G>A	(Likely) benign	1 lab	692a56f88a
9:37015160 PAX5 C>T	9	37015160	37015160	C	T	PAX5	c.244G>A	NM_016734.3	NP_057953.1:p.(Val82Ile)	NC_000009.11:g.37015160C>T	(Likely) benign	1 lab	692cb67c4f
15:42691839 CAPN3 G>A	15	42691839	42691839	G	A	CAPN3	c.1343G>A	NM_000070.3	NP_000061.1:p.(Arg448His)	NC_000015.9:g.42691839G>A	(Likely) pathogenic	1 lab	692e67a6e9
15:43507393 EPB42 C>T	15	43507393	43507393	C	T	EPB42	c.420G>A	NM_000119.3	NP_000110.2:p.(Ala140=)	NC_000015.9:g.43507393C>T	(Likely) benign	1 lab	692efc8b61
17:78086895 GAA A>G	17	78086895	78086895	A	G	GAA	c.2040+69A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78086895A>G	(Likely) benign	1 lab	693004a755
3:128973911 COPG1 G>T	3	128973911	128973911	G	T	COPG1	c.483G>T	NM_016128.4	NP_057212.1:p.(Val161=)	NC_000003.11:g.128973911G>T	(Likely) benign	1 lab	69307f6598
6:32942354 BRD2 G>T	6	32942354	32942354	G	T	BRD2	c.145G>T	NM_001199455.1	NP_001186384.1:p.(Ala49Ser)	NC_000006.11:g.32942354G>T	(Likely) benign	1 lab	6934b51422
1:158588916 SPTA1 C>G	1	158588916	158588916	C	G	SPTA1	c.6530+96G>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158588916C>G	(Likely) benign	1 lab	6939782627
13:35733310 NBEA G>A	13	35733310	35733310	G	A	NBEA	c.3002G>A	NM_015678.4	NP_056493.3:p.(Arg1001Gln)	NC_000013.10:g.35733310G>A	(Likely) benign	1 lab	693e976c5f
6:42975030 PPP2R5D T>A	6	42975030	42975030	T	A	PPP2R5D	c.166T>A	NM_001270476.2	NP_001257405.1:p.(Trp56Arg)	NC_000006.11:g.42975030T>A	(Likely) pathogenic	1 lab	6942d77e2b
5:90111355 ADGRV1 T>A	5	90111355	90111355	T	A	ADGRV1	c.16079-81T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111355T>A	(Likely) benign	1 lab	694381ecb0
7:87032525 ABCB4 G>A	7	87032525	87032525	G	A	ABCB4	c.3559C>T	NM_000443.4	NP_000434.1:p.(Arg1187Ter)	NC_000007.13:g.87032525G>A	(Likely) pathogenic	1 lab	6947b40607
X:18662742 CDKL5 A>G	X	18662742	18662742	A	G	CDKL5	c.2714-1385A>G	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18662742A>G	(Likely) benign	1 lab	69484ceb4e
17:33885049 SLFN14 C>T	17	33885049	33885049	C	T	SLFN14	c.33G>A	NM_001129820.2	NP_001123292.1:p.(Pro11=)	NC_000017.10:g.33885049C>T	(Likely) benign	1 lab	694a87933b
16:1266803 CACNA1H C>CT	16	1266803	1266804	C	CT	CACNA1H	c.5245-129_5245-128insT	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1266803_1266804insT	(Likely) benign	1 lab	6954f3b2df
1:207925587 CD46 C>G	1	207925587	207925587	C	G	CD46	c.30C>G	NM_002389.4	NP_002380.3:p.(Pro10=)	NC_000001.10:g.207925587C>G	(Likely) benign	1 lab	6956a0cb8c
2:167056418 SCN9A T>C	2	167056418	167056418	T	C	SCN9A	c.4742-44A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167056418T>C	(Likely) benign	1 lab	695cb65ea2
14:64557734 SYNE2 A>G	14	64557734	64557734	A	G	SYNE2	c.11944A>G	NM_182914.2	NP_878918.2:p.(Asn3982Asp)	NC_000014.8:g.64557734A>G	(Likely) benign	1 lab	69626ebbaf
9:126133551 CRB2 G>A	9	126133551	126133551	G	A	CRB2	c.2130G>A	NM_173689.7	NP_775960.4:p.(Pro710=)	NC_000009.11:g.126133551G>A	(Likely) benign	1 lab	69629d5737
22:23915471 IGLL1 G>A	22	23915471	23915471	G	A	IGLL1				NC_000022.10:g.23915471G>A	(Likely) benign	1 lab	6962e4f71e
14:54418543 BMP4 C>T	14	54418543	54418543	C	T	BMP4	c.370+28G>A	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54418543C>T	(Likely) benign	1 lab	6965089343
1:57349149 C8A T>C	1	57349149	57349149	T	C	C8A	c.655-5T>C	NM_000562.2	NP_000553.1:p.?	NC_000001.10:g.57349149T>C	(Likely) benign	1 lab	6966a0754c
13:32907453 BRCA2 T>C	13	32907453	32907453	T	C	BRCA2	c.1838T>C	NM_000059.3	NP_000050.2:p.(Leu613Pro)	NC_000013.10:g.32907453T>C	VUS	1 lab	696cc5052a
6:161127424 PLG A>T	6	161127424	161127424	A	T	PLG	c.50-15A>T	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161127424A>T	(Likely) benign	1 lab	696e4a9abc
15:48812976 FBN1 C>T	15	48812976	48812976	C	T	FBN1	c.1027G>A	NM_000138.4	NP_000129.3:p.(Gly343Arg)	NC_000015.9:g.48812976C>T	VUS	1 lab	6985f3a3d0
18:47463727 MYO5B G>A	18	47463727	47463727	G	A	MYO5B	c.1793C>T	NM_001080467.3	NP_001073936.1:p.(Pro598Leu)	NC_000018.9:g.47463727G>A	(Likely) benign	1 lab	696f8c11e0
16:86544523 FOXF1 C>T	16	86544523	86544523	C	T	FOXF1	c.348C>T	NM_001451.3	NP_001442.2:p.(Pro116=)	NC_000016.9:g.86544523C>T	(Likely) benign	1 lab	69757bf2b2
12:12939888 APOLD1 C>T	12	12939888	12939888	C	T	APOLD1	c.142C>T	NM_001130415.2	NP_001123887.1:p.(Leu48=)	NC_000012.11:g.12939888C>T	(Likely) benign	1 lab	69758bba7c
14:94245529 PRIMA1 G>A	14	94245529	94245529	G	A	PRIMA1	c.222C>T	NM_178013.4	NP_821092.1:p.(Ser74=)	NC_000014.8:g.94245529G>A	(Likely) benign	1 lab	697756576d
16:89603064 SPG7 A>G	16	89603064	89603064	A	G	SPG7	c.1324+4020A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89603064A>G	(Likely) benign	1 lab	697aaa5646
16:20348595 UMOD G>A	16	20348595	20348595	G	A	UMOD	c.1740+18C>T	NM_003361.3	NP_003352.2:p.?	NC_000016.9:g.20348595G>A	(Likely) benign	1 lab	69840be6b5
22:41322392 XPNPEP3 C>G	22	41322392	41322392	C	G	XPNPEP3	c.1477C>G	NM_022098.4	NP_071381.1:p.(Pro493Ala)	NC_000022.10:g.41322392C>G	(Likely) benign	1 lab	69878663a6
17:78081636 GAA T>A	17	78081636	78081636	T	A	GAA	c.896T>A	NM_000152.3	NP_000143.2:p.(Leu299Gln)	NC_000017.10:g.78081636T>A	(Likely) pathogenic	1 lab	698a6673b1
11:128709968 KCNJ1 C>T	11	128709968	128709968	C	T	KCNJ1	c.228G>A	NM_000220.6	NP_000211.1:p.(Lys76=)	NC_000011.9:g.128709968C>T	(Likely) benign	1 lab	698ec13b30
19:1212795 STK11 G>A	19	1212795	1212795	G	A	STK11	c.290+5593G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1212795G>A	(Likely) benign	1 lab	698fb4ddff
10:112360315 SMC3 GT>G	10	112360315	112360332	GT	G	SMC3	c.2535+28del	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112360332del	(Likely) benign	1 lab	6993f8c0b1
2:168105695 XIRP2 T>G	2	168105695	168105695	T	G	XIRP2	c.7793T>G	NM_152381.6	NP_689594.4:p.(Leu2598Arg)	NC_000002.11:g.168105695T>G	(Likely) benign	1 lab	69945f28e6
2:127810987 BIN1 G>A	2	127810987	127810987	G	A	BIN1	c.1263+11C>T	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127810987G>A	(Likely) benign	1 lab	699bd8297f
7:151262915 PRKAG2 T>C	7	151262915	151262915	T	C	PRKAG2	c.1290A>G	NM_016203.4	NP_057287.2:p.(Ile430Met)	NC_000007.13:g.151262915T>C	VUS	1 lab	699c7c00d9
10:68526128 CTNNA3 G>A	10	68526128	68526128	G	A	CTNNA3	c.1175C>T	NM_013266.4	NP_037398.2:p.(Thr392Met)	NC_000010.10:g.68526128G>A	VUS	1 lab	69a7eae569
10:95537109 LGI1 T>C	10	95537109	95537109	T	C	LGI1	c.288-27T>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95537109T>C	(Likely) benign	1 lab	69ad48c48d
17:41256101 BRCA1 AAG>A	17	41256101	41256104	AAG	A	BRCA1	c.441+36_441+37del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256103_41256104del	(Likely) benign	1 lab	69add40782
16:3293406 MEFV A>T	16	3293406	3293406	A	T	MEFV	c.2081T>A	NM_000243.2	NP_000234.1:p.(Met694Lys)	NC_000016.9:g.3293406A>T	(Likely) pathogenic	1 lab	69ae295bf3
2:166848769 SCN1A G>T	2	166848769	166848769	G	T	SCN1A	c.5016C>A	NM_001165963.3	NP_001159435.1:p.(Asn1672Lys)	NC_000002.11:g.166848769G>T	(Likely) pathogenic	1 lab	69b3cf4550
17:76115478 TMC6 CT>C	17	76115478	76115479	CT	C	TMC6	c.1716-6del	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76115479del	(Likely) benign	1 lab	69b8cc8cab
9:32488901 RIGI G>GA	9	32488901	32488907	G	GA	RIGI	c.800-17dup	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32488907dup	(Likely) benign	1 lab	69bbc53a51
5:67589664 PIK3R1 T>A	5	67589664	67589664	T	A	PIK3R1	c.1425+2T>A	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67589664T>A	(Likely) pathogenic	1 lab	69c2050334
8:2071168 MYOM2 A>G	8	2071168	2071168	A	G	MYOM2	c.3497A>G	NM_003970.4	NP_003961.3:p.(Asp1166Gly)	NC_000008.10:g.2071168A>G	VUS	1 lab	d0da5c9014
4:72425813 SLC4A4 T>C	4	72425813	72425813	T	C	SLC4A4	c.2809T>C	NM_003759.3	NP_003750.1:p.(Leu937=)	NC_000004.11:g.72425813T>C	(Likely) benign	1 lab	69c5e4accc
9:137710678 COL5A1 C>T	9	137710678	137710678	C	T	COL5A1	c.4339-16C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137710678C>T	(Likely) benign	1 lab	69c9e14717
12:66849869 GRIP1 G>GA	12	66849869	66849875	G	GA	GRIP1	c.1043-526dup	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849875dup	(Likely) benign	1 lab	69d0f68ccf
9:126136135 CRB2 C>G	9	126136135	126136135	C	G	CRB2	c.3325C>G	NM_173689.7	NP_775960.4:p.(His1109Asp)	NC_000009.11:g.126136135C>G	(Likely) benign	1 lab	69d3f6505d
7:27213228 HOXA10 G>A	7	27213228	27213228	G	A	HOXA10	c.698C>T	NM_018951.4	NP_061824.3:p.(Ala233Val)	NC_000007.13:g.27213228G>A	(Likely) benign	1 lab	69d4faa3eb
8:11400853 BLK C>A	8	11400853	11400853	C	A	BLK	c.120C>A	NM_001715.3	NP_001706.2:p.(Pro40=)	NC_000008.10:g.11400853C>A	(Likely) benign	1 lab	69e0b019a1
4:79436875 FRAS1 G>A	4	79436875	79436875	G	A	FRAS1	c.10175-78G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79436875G>A	(Likely) benign	1 lab	69e639617e
19:54301486 NLRP12 C>T	19	54301486	54301486	C	T	NLRP12	c.2927+11G>A	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54301486C>T	(Likely) benign	1 lab	6a09821b9c
22:30061042 NF2 GT>G	22	30061042	30061044	GT	G	NF2	c.876del	NM_000268.4	NP_000259.1:p.(Asn293IlefsTer3)	NC_000022.10:g.30061044del	(Likely) pathogenic	1 lab	d0db65a9ea
3:77614236 ROBO2 A>G	3	77614236	77614236	A	G	ROBO2	c.1814A>G	NM_002942.5	NP_002933.1:p.(Asp605Gly)	NC_000003.11:g.77614236A>G	(Likely) benign	1 lab	69ebe6ca16
1:247587802 NLRP3 G>A	1	247587802	247587802	G	A	NLRP3	c.1051G>A	NM_001243133.2	NP_001230062.1:p.(Val351Met)	NC_000001.10:g.247587802G>A	VUS	1 lab	69ec25f4bc
6:39902020 MOCS1 C>T	6	39902020	39902020	C	T	MOCS1	c.123+14G>A	NM_001075098.4	NP_001068566.1:p.?	NC_000006.11:g.39902020C>T	(Likely) benign	1 lab	69ec28b85f
1:33478848 AK2 G>A	1	33478848	33478848	G	A	AK2				NC_000001.10:g.33478848G>A	(Likely) benign	1 lab	69f1e4b439
18:55992249 NEDD4L T>A	18	55992249	55992249	T	A	NEDD4L	c.535T>A	NM_015277.6	NP_056092.2:p.(Ser179Thr)	NC_000018.9:g.55992249T>A	(Likely) benign	1 lab	d0dbc3a2e0
19:13370470 CACNA1A G>A	19	13370470	13370470	G	A	CACNA1A	c.4299C>T	NM_001127221.1	NP_001120693.1:p.(Asp1433=)	NC_000019.9:g.13370470G>A	(Likely) benign	1 lab	69f7848a5f
22:31006931 TCN2 C>T	22	31006931	31006931	C	T	TCN2	c.138C>T	NM_001184726.1	NP_001171655.1:p.(Ser46=)	NC_000022.10:g.31006931C>T	(Likely) benign	1 lab	69f88f1703
7:91724406 AKAP9 A>G	7	91724406	91724406	A	G	AKAP9	c.9648A>G	NM_005751.4	NP_005742.4:p.(Lys3216=)	NC_000007.13:g.91724406A>G	(Likely) benign	1 lab	69fbde4914
3:39226114 XIRP1 G>A	3	39226114	39226114	G	A	XIRP1	c.4823C>T	NM_194293.4	NP_919269.2:p.(Ala1608Val)	NC_000003.11:g.39226114G>A	(Likely) benign	1 lab	69fc43811b
4:1918745 NSD2 C>T	4	1918745	1918745	C	T	NSD2	c.908C>T	NM_133330.3	NP_579877.1:p.(Thr303Met)	NC_000004.11:g.1918745C>T	VUS	1 lab	d0dce5ad62
X:53612168 HUWE1 G>C	X	53612168	53612168	G	C	HUWE1	c.4825-20C>G	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53612168G>C	(Likely) benign	1 lab	6a0d909ba3
14:67452473 GPHN A>AT	14	67452473	67452479	A	AT	GPHN	c.963+20437dup	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67452479dup	(Likely) benign	1 lab	6a1270b3b6
2:238283536 COL6A3 G>A	2	238283536	238283536	G	A	COL6A3	c.3198C>T	NM_004369.3	NP_004360.2:p.(Arg1066=)	NC_000002.11:g.238283536G>A	(Likely) benign	1 lab	6a1422a1ff
16:1256215 CACNA1H C>T	16	1256215	1256215	C	T	CACNA1H	c.2715C>T	NM_021098.3	NP_066921.2:p.(Leu905=)	NC_000016.9:g.1256215C>T	(Likely) benign	1 lab	6a17ced3e1
9:32457174 RIGI C>A	9	32457174	32457174	C	A	RIGI	c.2724G>T	NM_014314.4	NP_055129.2:p.(Trp908Cys)	NC_000009.11:g.32457174C>A	VUS	1 lab	d0df621330
7:36458905 ANLN G>A	7	36458905	36458905	G	A	ANLN	c.1686G>A	NM_018685.5	NP_061155.2:p.(Ser562=)	NC_000007.13:g.36458905G>A	(Likely) benign	1 lab	6a1ecf4177
5:167946076 RARS1 A>G	5	167946076	167946076	A	G	RARS1	c.1874-10A>G	NM_002887.4	NP_002878.2:p.?	NC_000005.9:g.167946076A>G	(Likely) benign	1 lab	6a1f58ce94
7:69583231 AUTS2 TA>T	7	69583231	69583253	TA	T	AUTS2	c.624+34del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69583253del	(Likely) benign	1 lab	6a272cc90e
14:24724158 TGM1 G>A	14	24724158	24724158	G	A	TGM1	c.1927+20C>T	NM_000359.3	NP_000350.1:p.?	NC_000014.8:g.24724158G>A	(Likely) benign	1 lab	6a29341c5f
9:32493945 RIGI A>G	9	32493945	32493945	A	G	RIGI	c.242-5T>C	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32493945A>G	(Likely) benign	1 lab	6a2a13ceed
12:81101850 MYF6 C>A	12	81101850	81101850	C	A	MYF6	c.352C>A	NM_002469.3	NP_002460.1:p.(Arg118=)	NC_000012.11:g.81101850C>A	(Likely) benign	1 lab	6a2d150c52
2:227967506 COL4A4 C>T	2	227967506	227967506	C	T	COL4A4	c.929G>A	NM_000092.4	NP_000083.3:p.(Arg310Gln)	NC_000002.11:g.227967506C>T	(Likely) benign	1 lab	6a32279791
2:179408002 TTN C>T	2	179408002	179408002	C	T	TTN	c.69878G>A	NM_133432.3	NP_597676.3:p.(Arg23293Gln)	NC_000002.11:g.179408002C>T	VUS	1 lab	6a32de4b1d
X:107869710 COL4A5 C>G	X	107869710	107869710	C	G	COL4A5	c.3246+131C>G	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107869710C>G	(Likely) benign	1 lab	6a3497fc70
5:149437096 CSF1R G>T	5	149437096	149437096	G	T	CSF1R	c.2192C>A	NM_005211.4	NP_005202.2:p.(Thr731Asn)	NC_000005.9:g.149437096G>T	VUS	1 lab	d0df8c294d
7:56087383 PSPH A>G	7	56087383	56087383	A	G	PSPH	c.185T>C	NM_004577.4	NP_004568.2:p.(Leu62Pro)	NC_000007.13:g.56087383A>G	(Likely) pathogenic	1 lab	6a37cf7aeb
5:161524624 GABRG2 T>G	5	161524624	161524624	T	G	GABRG2				NC_000005.9:g.161524624T>G	(Likely) benign	1 lab	6a3e1e880c
12:110034247 MVK AG>A	12	110034247	110034248	AG	A	MVK	c.1057del	NM_000431.4	NP_000422.1:p.(Val353TrpfsTer8)	NC_000012.11:g.110034248del	VUS	1 lab	6a3ecb4017
5:37177716 CPLANE1 C>A	5	37177716	37177716	C	A	CPLANE1	c.5900+7G>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37177716C>A	(Likely) benign	1 lab	6a3f80d643
9:740769 KANK1 CTT>C	9	740769	740787	CTT	C	KANK1	c.3554-6_3554-5del	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740786_740787del	(Likely) benign	1 lab	6a403827b0
6:32798539 TAP2 A>G	6	32798539	32798539	A	G	TAP2	c.1317T>C	NM_001290043.2	NP_001276972.1:p.(Ala439=)	NC_000006.11:g.32798539A>G	(Likely) benign	1 lab	6a4350b36d
2:179514067 TTN A>G	2	179514067	179514067	A	G	TTN	c.39974-9T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179514067A>G	VUS	1 lab	6a4356eca2
2:32460393 NLRC4 G>A	2	32460393	32460393	G	A	NLRC4	c.2782+77C>T	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32460393G>A	(Likely) benign	1 lab	6a4833e941
2:109397711 RANBP2 G>T	2	109397711	109397711	G	T	RANBP2	c.8600-14G>T	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109397711G>T	(Likely) benign	1 lab	6a81cf6701
10:28872324 WAC T>G	10	28872324	28872324	T	G	WAC	c.275-4T>G	NM_016628.5	NP_057712.2:p.?	NC_000010.10:g.28872324T>G	(Likely) benign	1 lab	d0e99e9973
3:77530342 ROBO2 C>G	3	77530342	77530342	C	G	ROBO2	c.639C>G	NM_001290040.2	NP_001276969.1:p.(Asp213Glu)	NC_000003.11:g.77530342C>G	(Likely) benign	1 lab	6a4c5ca50f
8:27328336 CHRNA2 G>A	8	27328336	27328336	G	A	CHRNA2	c.73+167C>T	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27328336G>A	(Likely) benign	1 lab	6a4d6c2504
19:41895701 EXOSC5 A>C	19	41895701	41895701	A	C	EXOSC5	c.494T>G	NM_020158.4	NP_064543.3:p.(Leu165Arg)	NC_000019.9:g.41895701A>C	VUS	1 lab	d0ea07f59d
16:3293438 MEFV C>T	16	3293438	3293438	C	T	MEFV	c.2049G>A	NM_000243.2	NP_000234.1:p.(Ser683=)	NC_000016.9:g.3293438C>T	(Likely) benign	1 lab	6a55143c14
4:79430318 FRAS1 AG>A	4	79430318	79430320	AG	A	FRAS1	c.9780+160del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79430320del	(Likely) benign	1 lab	6a55f51049
2:166758447 TTC21B TA>T	2	166758447	166758459	TA	T	TTC21B	c.2569-28del	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166758459del	(Likely) benign	1 lab	6a56c70675
6:32790099 TAP2 G>GA	6	32790099	32790109	G	GA	TAP2	c.1933-5dup	NM_018833.2	NP_061313.2:p.?	NC_000006.11:g.32790109dup	(Likely) benign	1 lab	6a58a68b25
1:227165191 COQ8A G>A	1	227165191	227165191	G	A	COQ8A	c.697G>A	NM_020247.5	NP_064632.2:p.(Ala233Thr)	NC_000001.10:g.227165191G>A	(Likely) benign	1 lab	6a5bc30d56
1:247587982 NLRP3 C>T	1	247587982	247587982	C	T	NLRP3	c.1231C>T	NM_001243133.2	NP_001230062.1:p.(Leu411=)	NC_000001.10:g.247587982C>T	(Likely) benign	1 lab	6a5f1da4d0
1:196697517 CFH A>T	1	196697517	196697517	A	T	CFH	c.2278A>T	NM_000186.3	NP_000177.2:p.(Ile760Leu)	NC_000001.10:g.196697517A>T	(Likely) benign	1 lab	6a62bea1bd
16:23226248 SCNN1G G>A	16	23226248	23226248	G	A	SCNN1G	c.1569+140G>A	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23226248G>A	(Likely) benign	1 lab	6b7945f4b1
8:61725221 CHD7 CAA>C	8	61725221	61725238	CAA	C	CHD7	c.2499-3709_2499-3708del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61725237_61725238del	(Likely) benign	1 lab	6a6402f79b
10:16941095 CUBN CA>C	10	16941095	16941096	CA	C	CUBN	c.8497del	NM_001081.4	NP_001072.2:p.(Trp2833GlyfsTer20)	NC_000010.10:g.16941096del	(Likely) pathogenic	1 lab	6a6555ab12
1:185270335 IVNS1ABP G>A	1	185270335	185270335	G	A	IVNS1ABP	c.896-7C>T	NM_006469.5	NP_006460.2:p.?	NC_000001.10:g.185270335G>A	(Likely) benign	1 lab	6a6a695712
18:2925293 LPIN2 G>A	18	2925293	2925293	G	A	LPIN2	c.1867C>T	NM_014646.2	NP_055461.1:p.(Pro623Ser)	NC_000018.9:g.2925293G>A	(Likely) benign	1 lab	6a6be1724e
14:103396085 AMN C>T	14	103396085	103396085	C	T	AMN	c.843+11C>T	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103396085C>T	(Likely) benign	1 lab	6a6c8afb57
1:181706750 CACNA1E C>T	1	181706750	181706750	C	T	CACNA1E	c.3512C>T	NM_000721.4	NP_000712.2:p.(Ala1171Val)	NC_000001.10:g.181706750C>T	VUS	1 lab	6a6d9c4634
1:206944112 IL10 T>A	1	206944112	206944112	T	A	IL10	c.378+140A>T	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944112T>A	(Likely) benign	1 lab	6a71921ec2
11:4080583 STIM1 G>T	11	4080583	4080583	G	T	STIM1	c.570G>T	NM_003156.3	NP_003147.2:p.(Leu190=)	NC_000011.9:g.4080583G>T	(Likely) benign	1 lab	6a7956a218
8:86376375 CA2 GCCCCGAT>G	8	86376375	86376409	GCCCCGAT	G	CA2	c.34+59_34+65del	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86376403_86376409del	(Likely) benign	1 lab	6a7c566b36
17:4167248 ANKFY1 C>G	17	4167248	4167248	C	G	ANKFY1	n.27G>C	NR_047571.3		NC_000017.10:g.4167248C>G	(Likely) benign	1 lab	6a7d77a2cb
14:102473340 DYNC1H1 A>C	14	102473340	102473340	A	C	DYNC1H1	c.5717-5A>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102473340A>C	(Likely) benign	1 lab	6a7e0767ee
9:131380339 SPTAN1 C>T	9	131380339	131380339	C	T	SPTAN1	c.5552C>T	NM_001130438.2	NP_001123910.1:p.(Ala1851Val)	NC_000009.11:g.131380339C>T	(Likely) benign	1 lab	6a8061ace8
5:138860810 STING1 C>T	5	138860810	138860810	C	T	STING1	c.345G>A	NM_198282.4	NP_938023.1:p.(Pro115=)	NC_000005.9:g.138860810C>T	(Likely) benign	1 lab	6a843abb4b
6:7585966 DSP GGTCCCGCTCCGGC>G	6	7585966	7585979	GGTCCCGCTCCGGC	G	DSP	c.8472_8484del	NM_004415.4	NP_004406.2:p.(Ser2825ProfsTer54)	NC_000006.11:g.7585967_7585979del	(Likely) benign	1 lab	6a85239374
2:44204296 LRPPRC G>A	2	44204296	44204296	G	A	LRPPRC	c.589C>T	NM_133259.4	NP_573566.2:p.(Arg197Ter)	NC_000002.11:g.44204296G>A	(Likely) pathogenic	1 lab	6a87904c39
1:196797287 CFHR1 G>A	1	196797287	196797287	G	A	CFHR1	c.518G>A	NM_002113.2	NP_002104.2:p.(Arg173His)	NC_000001.10:g.196797287G>A	(Likely) benign	1 lab	6a879d8415
2:109388273 RANBP2 A>G	2	109388273	109388273	A	G	RANBP2	c.7966A>G	NM_006267.5	NP_006258.3:p.(Thr2656Ala)	NC_000002.11:g.109388273A>G	VUS	1 lab	d0eb8acaa9
13:32951115 BRCA2 C>T	13	32951115	32951115	C	T	BRCA2	c.8754+187C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951115C>T	(Likely) benign	1 lab	6a8a756637
17:8077581 TMEM107 T>C	17	8077581	8077581	T	C	TMEM107	c.381A>G	NM_032354.5	NP_115730.2:p.(Pro127=)	NC_000017.10:g.8077581T>C	(Likely) benign	1 lab	6a8ac5de77
10:102510501 PAX2 C>T	10	102510501	102510501	C	T	PAX2	c.263C>T	NM_003988.5	NP_003979.2:p.(Pro88Leu)	NC_000010.10:g.102510501C>T	(Likely) pathogenic	1 lab	6a8b8c8502
5:161277900 GABRA1 CT>C	5	161277900	161277906	CT	C	GABRA1	c.74+16del	NM_001127644.2	NP_001121116.1:p.?	NC_000005.9:g.161277906del	(Likely) benign	1 lab	6a8d2c7289
9:34241785 UBAP1 C>T	9	34241785	34241785	C	T	UBAP1	c.954C>T	NM_001171201.1	NP_001164672.1:p.(Leu318=)	NC_000009.11:g.34241785C>T	(Likely) benign	1 lab	6a9142b68b
17:8076761 TMEM107 C>A	17	8076761	8076761	C	A	TMEM107	c.*760G>T	NM_032354.5	NP_115730.2:p.?	NC_000017.10:g.8076761C>A	(Likely) benign	1 lab	6a91d94046
6:47547081 CD2AP A>AAAAG	6	47547081	47547085	A	AAAAG	CD2AP	c.904-39_904-36dup	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47547082_47547085dup	(Likely) benign	1 lab	6a93d030b7
2:109383658 RANBP2 A>G	2	109383658	109383658	A	G	RANBP2	c.6663A>G	NM_006267.4	NP_006258.3:p.(Thr2221=)	NC_000002.11:g.109383658A>G	(Likely) benign	1 lab	6a952aea8f
4:113353226 ALPK1 G>A	4	113353226	113353226	G	A	ALPK1	c.2523G>A	NM_025144.4	NP_079420.3:p.(Glu841=)	NC_000004.11:g.113353226G>A	(Likely) benign	1 lab	6a9c93fac4
8:42178258 IKBKB C>T	8	42178258	42178258	C	T	IKBKB	c.1584C>T	NM_001556.3	NP_001547.1:p.(Asn528=)	NC_000008.10:g.42178258C>T	(Likely) benign	1 lab	6aa56839e0
1:228404777 OBSCN C>T	1	228404777	228404777	C	T	OBSCN	c.2441C>T	NM_001271223.2	NP_001258152.2:p.(Pro814Leu)	NC_000001.10:g.228404777C>T	(Likely) benign	1 lab	6aa9c07228
5:156184733 SGCD C>G	5	156184733	156184733	C	G	SGCD	c.717C>G	NM_172244.3	NP_758447.1:p.(Asp239Glu)	NC_000005.9:g.156184733C>G	(Likely) benign	1 lab	6aac820ae7
19:41206202 COQ8B C>G	19	41206202	41206202	C	G	COQ8B	c.1035+13G>C	NM_024876.4	NP_079152.3:p.?	NC_000019.9:g.41206202C>G	(Likely) benign	1 lab	6aad5b1a12
9:14848873 FREM1 C>T	9	14848873	14848873	C	T	FREM1	c.1153-102G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14848873C>T	(Likely) benign	1 lab	6aae88b87d
9:104190824 ALDOB A>C	9	104190824	104190824	A	C	ALDOB	c.325-19T>G	NM_000035.4	NP_000026.2:p.?	NC_000009.11:g.104190824A>C	(Likely) benign	1 lab	6ab0d6689e
17:39928023 JUP C>T	17	39928023	39928023	C	T	JUP	c.84G>A	NM_002230.2	NP_002221.1:p.(Ser28=)	NC_000017.10:g.39928023C>T	(Likely) benign	1 lab	6ab1ff4965
1:1960463 GABRD G>T	1	1960463	1960463	G	T	GABRD	c.692-87G>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1960463G>T	(Likely) benign	1 lab	6ab28a38d7
4:95494496 PDLIM5 C>T	4	95494496	95494496	C	T	PDLIM5	c.249-6C>T	NM_001256426.1	NP_001243355.1:p.?	NC_000004.11:g.95494496C>T	(Likely) benign	1 lab	6ab56a5f21
17:41258520 BRCA1 C>T	17	41258520	41258520	C	T	BRCA1	c.165G>A	NM_007294.3	NP_009225.1:p.(Lys55=)	NC_000017.10:g.41258520C>T	(Likely) benign	1 lab	6ab73258d0
16:3736085 TRAP1 C>T	16	3736085	3736085	C	T	TRAP1	c.383G>A	NM_016292.3	NP_057376.2:p.(Arg128His)	NC_000016.9:g.3736085C>T	(Likely) benign	1 lab	6aba889cc8
14:105177566 INF2 C>A	14	105177566	105177566	C	A	INF2	c.2418+43C>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105177566C>A	(Likely) benign	1 lab	6ac8989ca5
10:14941186 DCLRE1C G>A	10	14941186	14941186	G	A	DCLRE1C	n.2275C>T	NR_146960.1		NC_000010.10:g.14941186G>A	(Likely) benign	1 lab	6be2032767
1:247608167 NLRP3 C>A	1	247608167	247608167	C	A	NLRP3	c.3005+44C>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247608167C>A	(Likely) benign	1 lab	6acd563eda
16:11017111 CIITA G>A	16	11017111	11017111	G	A	CIITA	c.3344G>A	NM_000246.3	NP_000237.2:p.(Ser1115Asn)	NC_000016.9:g.11017111G>A	(Likely) benign	1 lab	6ad1833559
9:390495 DOCK8 C>T	9	390495	390495	C	T	DOCK8	c.2899C>T	NM_203447.3	NP_982272.2:p.(Gln967Ter)	NC_000009.11:g.390495C>T	(Likely) pathogenic	1 lab	6ad54f8ae5
5:37125432 CPLANE1 G>A	5	37125432	37125432	G	A	CPLANE1	c.8710C>T	NM_023073.3	NP_075561.3:p.(Arg2904Ter)	NC_000005.9:g.37125432G>A	(Likely) pathogenic	1 lab	6ad6a250f8
14:105169674 INF2 G>A	14	105169674	105169674	G	A	INF2	c.550G>A	NM_022489.3	NP_071934.3:p.(Glu184Lys)	NC_000014.8:g.105169674G>A	(Likely) pathogenic	1 lab	6adea10b3e
16:3304482 MEFV C>T	16	3304482	3304482	C	T	MEFV	c.586G>A	NM_000243.2	NP_000234.1:p.(Gly196Arg)	NC_000016.9:g.3304482C>T	(Likely) benign	1 lab	6ae18ce065
21:47410321 COL6A1 GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA>G	21	47410321	47410424	GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA	G	COL6A1	c.1002+6_1002+88del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410342_47410424del	(Likely) benign	1 lab	6ae2b4020d
X:76938051 ATRX C>T	X	76938051	76938051	C	T	ATRX	c.2697G>A	NM_000489.5	NP_000480.3:p.(Thr899=)	NC_000023.10:g.76938051C>T	VUS	1 lab	6ae923225a
4:108866627 CYP2U1 A>G	4	108866627	108866627	A	G	CYP2U1	c.992A>G	NM_183075.3	NP_898898.1:p.(Asn331Ser)	NC_000004.11:g.108866627A>G	(Likely) benign	1 lab	6aebbcb18b
20:8862395 PLCB1 C>T	20	8862395	8862395	C	T	PLCB1	c.3550C>T	NM_015192.4	NP_056007.1:p.(Leu1184Phe)	NC_000020.10:g.8862395C>T	(Likely) benign	1 lab	6af49ca232
1:201333434 TNNT2 G>A	1	201333434	201333434	G	A	TNNT2	c.451C>T	NM_001276347.2	NP_001263276.1:p.(Arg151Cys)	NC_000001.10:g.201333434G>A	VUS	1 lab	6af7e1ce31
22:32200723 DEPDC5 G>GC	22	32200723	32200726	G	GC	DEPDC5	c.1144-102dup	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32200726dup	(Likely) benign	1 lab	6aff85a018
2:73830449 ALMS1 A>T	2	73830449	73830449	A	T	ALMS1	c.12365+18A>T	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73830449A>T	(Likely) benign	1 lab	6b004ed935
6:133789712 EYA4 A>G	6	133789712	133789712	A	G	EYA4	c.813A>G	NM_004100.5	NP_004091.3:p.(Pro271=)	NC_000006.11:g.133789712A>G	(Likely) benign	1 lab	6b06e5dc8f
17:78165214 CARD14 C>T	17	78165214	78165214	C	T	CARD14	c.1182C>T	NM_024110.4	NP_077015.2:p.(Asp394=)	NC_000017.10:g.78165214C>T	(Likely) benign	1 lab	6b070a4c04
5:7878399 MTRR A>G	5	7878399	7878399	A	G	MTRR	c.744A>G	NM_002454.3	NP_002445.2:p.(Glu248=)	NC_000005.9:g.7878399A>G	(Likely) benign	1 lab	6b14fdf0c5
5:90103603 ADGRV1 G>A	5	90103603	90103603	G	A	ADGRV1	c.14972+49G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90103603G>A	(Likely) benign	1 lab	6b17d4aca6
4:2826400 SH3BP2 T>C	4	2826400	2826400	T	C	SH3BP2	c.384T>C	NM_001145855.2	NP_001139327.1:p.(His128=)	NC_000004.11:g.2826400T>C	(Likely) benign	1 lab	d0ed9efd54
17:61574642 ACE G>A	17	61574642	61574642	G	A	ACE	c.3836G>A	NM_000789.4	NP_000780.1:p.(Arg1279Gln)	NC_000017.10:g.61574642G>A	(Likely) benign	1 lab	6b1c13ee3f
16:88878055 APRT C>A	16	88878055	88878055	C	A	APRT	c.90G>T	NM_000485.3	NP_000476.1:p.(Ser30=)	NC_000016.9:g.88878055C>A	(Likely) benign	1 lab	6b1d19fe63
4:79238448 FRAS1 T>C	4	79238448	79238448	T	C	FRAS1	c.1820-74T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79238448T>C	(Likely) benign	1 lab	6b224b8dcd
7:91709075 AKAP9 T>C	7	91709075	91709075	T	C	AKAP9	c.7628T>C	NM_005751.4	NP_005742.4:p.(Leu2543Pro)	NC_000007.13:g.91709075T>C	VUS	1 lab	6b2607b8f0
6:32943062 BRD2 G>T	6	32943062	32943062	G	T	BRD2	c.334-99G>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943062G>T	(Likely) benign	1 lab	6b307eba99
5:79027469 CMYA5 G>A	5	79027469	79027469	G	A	CMYA5	c.2881G>A	NM_153610.5	NP_705838.3:p.(Ala961Thr)	NC_000005.9:g.79027469G>A	(Likely) benign	1 lab	6b31cd8d96
8:145638739 SLC39A4 G>A	8	145638739	145638739	G	A	SLC39A4	c.1434C>T	NM_017767.3	NP_060237.3:p.(Gly478=)	NC_000008.10:g.145638739G>A	VUS	1 lab	d0f09179d7
4:106158215 TET2 C>T	4	106158215	106158215	C	T	TET2	c.3116C>T	NM_001127208.2	NP_001120680.1:p.(Ser1039Leu)	NC_000004.11:g.106158215C>T	(Likely) benign	1 lab	6b371b7dfa
1:247587670 NLRP3 G>A	1	247587670	247587670	G	A	NLRP3	c.919G>A	NM_001243133.2	NP_001230062.1:p.(Gly307Ser)	NC_000001.10:g.247587670G>A	(Likely) pathogenic	1 lab	6b393bfc3b
14:68191306 RDH12 G>T	14	68191306	68191306	G	T	RDH12	c.185G>T	NM_152443.3	NP_689656.2:p.(Arg62Leu)	NC_000014.8:g.68191306G>T	VUS	1 lab	d0f4d5f6af
13:39424254 FREM2 T>C	13	39424254	39424254	T	C	FREM2	c.6459T>C	NM_207361.6	NP_997244.4:p.(Thr2153=)	NC_000013.10:g.39424254T>C	(Likely) benign	1 lab	6b49bfa157
17:3561347 CTNS G>A	17	3561347	3561347	G	A	CTNS	c.730G>A	NM_004937.3	NP_004928.2:p.(Ala244Thr)	NC_000017.10:g.3561347G>A	(Likely) benign	1 lab	6b4b26b694
12:53454220 TNS2 C>T	12	53454220	53454220	C	T	TNS2	c.2679C>T	NM_015319.2	NP_056134.2:p.(Gly893=)	NC_000012.11:g.53454220C>T	(Likely) benign	1 lab	6b4e6e5b15
9:6592285 GLDC C>A	9	6592285	6592285	C	A	GLDC	c.1402-62G>T	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6592285C>A	(Likely) benign	1 lab	6b50e1da16
2:241710439 KIF1A G>A	2	241710439	241710439	G	A	KIF1A	c.1290C>T	NM_001244008.1	NP_001230937.1:p.(His430=)	NC_000002.11:g.241710439G>A	(Likely) benign	1 lab	6b51b4da8d
18:12370938 AFG3L2 G>A	18	12370938	12370938	G	A	AFG3L2	c.215-13C>T	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12370938G>A	(Likely) benign	1 lab	6b55ea84db
16:71767053 AP1G1 G>A	16	71767053	71767053	G	A	AP1G1	c.2386C>T	NM_001030007.2	NP_001025178.1:p.(Arg796Ter)	NC_000016.9:g.71767053G>A	(Likely) pathogenic	1 lab	6b57276aba
17:78079666 GAA T>G	17	78079666	78079666	T	G	GAA	c.665T>G	NM_000152.3	NP_000143.2:p.(Val222Gly)	NC_000017.10:g.78079666T>G	VUS	1 lab	6b57a198cb
15:93527809 CHD2 G>A	15	93527809	93527809	G	A	CHD2	c.3237+79G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93527809G>A	(Likely) benign	1 lab	6b58d43154
6:143095874 HIVEP2 A>G	6	143095874	143095874	A	G	HIVEP2	c.2T>C	NM_006734.3	NP_006725.3:p.(Met1?)	NC_000006.11:g.143095874A>G	(Likely) benign	1 lab	6b5c494042
1:161633049 FCGR2B C>T	1	161633049	161633049	C	T	FCGR2B	c.18C>T	NM_004001.4	NP_003992.3:p.(Phe6=)	NC_000001.10:g.161633049C>T	(Likely) benign	1 lab	6b6b43c188
11:32413560 WT1 C>T	11	32413560	32413560	C	T	WT1				NC_000011.9:g.32413560C>T	(Likely) pathogenic	1 lab	6b6b7a2ff7
16:31201063 FUS G>A	16	31201063	31201063	G	A	FUS	c.1014G>A	NM_004960.3	NP_004951.1:p.(Thr338=)	NC_000016.9:g.31201063G>A	(Likely) benign	1 lab	6b6d39eb67
16:1268596 CACNA1H C>T	16	1268596	1268596	C	T	CACNA1H	c.5832C>T	NM_021098.3	NP_066921.2:p.(His1944=)	NC_000016.9:g.1268596C>T	(Likely) benign	1 lab	6b70dfa438
16:15808809 MYH11 C>T	16	15808809	15808809	C	T	MYH11	c.5764G>A	NM_001040113.2	NP_001035202.1:p.(Glu1922Lys)	NC_000016.9:g.15808809C>T	VUS	1 lab	6b7766f998
20:60913009 LAMA5 T>C	20	60913009	60913009	T	C	LAMA5	c.1892-15A>G	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60913009T>C	(Likely) benign	1 lab	6b778a1944
21:47546061 COL6A2 G>A	21	47546061	47546061	G	A	COL6A2	c.2332G>A	NM_058175.2	NP_478055.2:p.(Asp778Asn)	NC_000021.8:g.47546061G>A	(Likely) benign	1 lab	6b7a95f887
X:48542332 WAS C>T	X	48542332	48542332	C	T	WAS	c.90C>T	NM_000377.2	NP_000368.1:p.(His30=)	NC_000023.10:g.48542332C>T	(Likely) benign	1 lab	6b7f3df564
1:196249970 KCNT2 A>C	1	196249970	196249970	A	C	KCNT2	c.2910+20T>G	NM_198503.5	NP_940905.2:p.?	NC_000001.10:g.196249970A>C	(Likely) benign	1 lab	6b84313607
11:64367331 SLC22A12 C>T	11	64367331	64367331	C	T	SLC22A12	c.1254C>T	NM_144585.4	NP_653186.2:p.(Leu418=)	NC_000011.9:g.64367331C>T	(Likely) benign	1 lab	6b899e54cd
11:36595760 RAG1 C>A	11	36595760	36595760	C	A	RAG1	c.906C>A	NM_000448.2	NP_000439.1:p.(Asp302Glu)	NC_000011.9:g.36595760C>A	(Likely) benign	1 lab	6b8b9bb9fb
4:2829416 SH3BP2 T>G	4	2829416	2829416	T	G	SH3BP2	c.670+15T>G	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2829416T>G	(Likely) benign	1 lab	6b91bdf4fe
1:150049791 VPS45 A>C	1	150049791	150049791	A	C	VPS45	c.621A>C	NM_007259.4	NP_009190.2:p.(Thr207=)	NC_000001.10:g.150049791A>C	(Likely) benign	1 lab	6b992372ea
14:58979241 KIAA0586 A>G	14	58979241	58979241	A	G	KIAA0586	c.4484A>G	NM_001244189.2	NP_001231118.1:p.(Tyr1495Cys)	NC_000014.8:g.58979241A>G	(Likely) benign	1 lab	6b9f0981c4
X:21670517 CNKSR2 G>A	X	21670517	21670517	G	A	CNKSR2	c.2983G>A	NM_014927.5	NP_055742.2:p.(Asp995Asn)	NC_000023.10:g.21670517G>A	(Likely) benign	1 lab	6b9f249322
7:95906527 SLC25A13 C>T	7	95906527	95906527	C	T	SLC25A13	c.193G>A	NM_001160210.2	NP_001153682.1:p.(Val65Met)	NC_000007.13:g.95906527C>T	VUS	1 lab	d0fcc2062d
6:32945625 BRD2 C>T	6	32945625	32945625	C	T	BRD2	c.1421C>T	NM_001199455.1	NP_001186384.1:p.(Ala474Val)	NC_000006.11:g.32945625C>T	(Likely) benign	1 lab	6baa08a21b
17:8139215 CTC1 C>A	17	8139215	8139215	C	A	CTC1	c.1140G>T	NM_025099.6	NP_079375.3:p.(Gly380=)	NC_000017.10:g.8139215C>A	(Likely) benign	1 lab	6bb3bdc746
4:6612965 MAN2B2 G>A	4	6612965	6612965	G	A	MAN2B2	c.2523G>A	NM_015274.3	NP_056089.1:p.(Ala841=)	NC_000004.11:g.6612965G>A	(Likely) benign	1 lab	6bb5c691c7
5:90103687 ADGRV1 C>T	5	90103687	90103687	C	T	ADGRV1	c.14972+133C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90103687C>T	(Likely) benign	1 lab	6bb87676de
16:27761296 KATNIP G>A	16	27761296	27761296	G	A	KATNIP	c.3015G>A	NM_015202.3	NP_056017.3:p.(Pro1005=)	NC_000016.9:g.27761296G>A	(Likely) benign	1 lab	6bb8ed1a3f
16:15917284 MYH11 C>G	16	15917284	15917284	C	G	MYH11	c.346-16G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15917284C>G	(Likely) benign	1 lab	6bb94a14be
2:149226746 MBD5 G>A	2	149226746	149226746	G	A	MBD5	c.1234G>A	NM_018328.5	NP_060798.2:p.(Val412Ile)	NC_000002.11:g.149226746G>A	(Likely) benign	1 lab	d0fe830107
5:92923740 NR2F1 G>T	5	92923740	92923740	G	T	NR2F1	c.581G>T	NM_005654.6	NP_005645.1:p.(Arg194Leu)	NC_000005.9:g.92923740G>T	VUS	1 lab	d101ce5e92
5:38876450 OSMR T>C	5	38876450	38876450	T	C	OSMR	c.221T>C	NM_003999.3	NP_003990.1:p.(Ile74Thr)	NC_000005.9:g.38876450T>C	VUS	1 lab	6bbf6769df
17:61574607 ACE C>T	17	61574607	61574607	C	T	ACE	c.3801C>T	NM_000789.4	NP_000780.1:p.(Ile1267=)	NC_000017.10:g.61574607C>T	(Likely) benign	1 lab	6bc2ed67ca
10:112572536 RBM20 G>A	10	112572536	112572536	G	A	RBM20	c.2381G>A	NM_001134363.1	NP_001127835.1:p.(Arg794Lys)	NC_000010.10:g.112572536G>A	VUS	1 lab	6bcc24527d
6:7579394 DSP A>G	6	7579394	7579394	A	G	DSP	c.3085-114A>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7579394A>G	(Likely) benign	1 lab	6bccc3cf17
1:247586920 NLRP3 T>G	1	247586920	247586920	T	G	NLRP3	c.398-229T>G	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247586920T>G	(Likely) benign	1 lab	6bcd76f4eb
18:47518652 MYO5B A>G	18	47518652	47518652	A	G	MYO5B	c.756+6T>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47518652A>G	(Likely) benign	1 lab	6bd323eb9f
1:156104245 LMNA C>T	1	156104245	156104245	C	T	LMNA				NC_000001.10:g.156104245C>T	(Likely) pathogenic	1 lab	6bd3d55300
16:75589689 TMEM231 G>T	16	75589689	75589689	G	T	TMEM231	c.468+13C>A	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75589689G>T	(Likely) benign	1 lab	6bd6df424a
X:154090034 F8 G>C	X	154090034	154090034	G	C	F8	c.6682C>G	NM_000132.3	NP_000123.1:p.(Arg2228Gly)	NC_000023.10:g.154090034G>C	(Likely) pathogenic	1 lab	6bd7c6c885
3:10183763 VHL A>G	3	10183763	10183763	A	G	VHL	c.232A>G	NM_000551.3	NP_000542.1:p.(Asn78Asp)	NC_000003.11:g.10183763A>G	VUS	1 lab	6bde6a21a3
9:35092126 PIGO G>A	9	35092126	35092126	G	A	PIGO	c.1758C>T	NM_032634.4	NP_116023.2:p.(Val586=)	NC_000009.11:g.35092126G>A	(Likely) benign	1 lab	6be21b9725
5:160757991 GABRB2 C>G	5	160757991	160757991	C	G	GABRB2	c.976G>C	NM_021911.3	NP_068711.1:p.(Val326Leu)	NC_000005.9:g.160757991C>G	VUS	1 lab	d104c7d7e5
11:47360959 MYBPC3 G>A	11	47360959	47360959	G	A	MYBPC3	c.2068-4C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360959G>A	(Likely) benign	1 lab	6be78fb53a
8:41791589 KAT6A G>A	8	41791589	41791589	G	A	KAT6A	c.4149C>T	NM_006766.5	NP_006757.2:p.(Ser1383=)	NC_000008.10:g.41791589G>A	(Likely) benign	1 lab	6bebd19278
3:64184450 PRICKLE2 A>G	3	64184450	64184450	A	G	PRICKLE2	c.144+10T>C	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64184450A>G	(Likely) benign	1 lab	6bec1726b3
11:67814997 TCIRG1 C>T	11	67814997	67814997	C	T	TCIRG1				NC_000011.9:g.67814997C>T	(Likely) benign	1 lab	6bf2f53ab1
17:40947111 WNK4 C>T	17	40947111	40947111	C	T	WNK4	c.2672C>T	NM_032387.5	NP_115763.2:p.(Thr891Met)	NC_000017.10:g.40947111C>T	(Likely) benign	1 lab	6bf9193aa7
9:434767 DOCK8 C>T	9	434767	434767	C	T	DOCK8	c.4887-16C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.434767C>T	(Likely) benign	1 lab	6bfab4981e
2:227973305 COL4A4 C>G	2	227973305	227973305	C	G	COL4A4	c.727G>C	NM_000092.4	NP_000083.3:p.(Gly243Arg)	NC_000002.11:g.227973305C>G	(Likely) pathogenic	1 lab	6bffc0aaab
16:28996234 LAT G>T	16	28996234	28996234	G	T	LAT	c.52G>T	NM_001014989.2	NP_001014989.2:p.(Ala18Ser)	NC_000016.9:g.28996234G>T	(Likely) benign	1 lab	6c041318a2
16:2143732 PKD1 A>C	16	2143732	2143732	A	C	PKD1	c.10829T>G	NM_001009944.2	NP_001009944.2:p.(Leu3610Arg)	NC_000016.9:g.2143732A>C	(Likely) pathogenic	1 lab	6c0eff75c8
19:13616886 CACNA1A T>C	19	13616886	13616886	T	C	CACNA1A	c.153A>G	NM_023035.3	NP_075461.2:p.(Ser51=)	NC_000019.9:g.13616886T>C	(Likely) benign	1 lab	6c0fedf5c5
10:54041935 PRKG1 A>G	10	54041935	54041935	A	G	PRKG1	c.1523A>G	NM_001098512.3	NP_001091982.1:p.(Lys508Arg)	NC_000010.10:g.54041935A>G	VUS	1 lab	6c1c3f5366
15:26812636 GABRB3 A>C	15	26812636	26812636	A	C	GABRB3	c.835+92T>G	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26812636A>C	(Likely) benign	1 lab	6c21cab091
8:133186330 KCNQ3 T>C	8	133186330	133186330	T	C	KCNQ3	c.1044+156A>G	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133186330T>C	(Likely) benign	1 lab	6c26402d43
9:130591961 ENG C>T	9	130591961	130591961	C	T	ENG	c.360+5G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130591961C>T	(Likely) pathogenic	1 lab	6c2cb8d280
6:114277866 HDAC2 G>T	6	114277866	114277866	G	T	HDAC2	c.284-9C>A	NM_001527.4	NP_001518.3:p.?	NC_000006.11:g.114277866G>T	(Likely) benign	1 lab	6c2cc1a539
5:77409850 AP3B1 T>C	5	77409850	77409850	T	C	AP3B1	c.2078-103A>G	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77409850T>C	(Likely) benign	1 lab	6c2daac17f
16:2166656 PKD1 G>A	16	2166656	2166656	G	A	PKD1	c.1607-11C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2166656G>A	(Likely) benign	1 lab	6c352d5a51
1:237947690 RYR2 G>A	1	237947690	237947690	G	A	RYR2	c.12678G>A	NM_001035.3	NP_001026.2:p.(Pro4226=)	NC_000001.10:g.237947690G>A	(Likely) benign	1 lab	6c36d61740
10:121436699 BAG3 C>G	10	121436699	121436699	C	G	BAG3	c.1633C>G	NM_004281.3	NP_004272.2:p.(Pro545Ala)	NC_000010.10:g.121436699C>G	(Likely) benign	1 lab	6c396f14b5
16:81960755 PLCG2 C>T	16	81960755	81960755	C	T	PLCG2	c.2486C>T	NM_002661.3	NP_002652.2:p.(Thr829Ile)	NC_000016.9:g.81960755C>T	(Likely) benign	1 lab	6c3b5fce9c
8:145137723 GPAA1 G>T	8	145137723	145137723	G	T	GPAA1	c.74+16G>T	NM_003801.4	NP_003792.1:p.?	NC_000008.10:g.145137723G>T	(Likely) benign	1 lab	6c3c5a08f6
11:47359045 MYBPC3 C>G	11	47359045	47359045	C	G	MYBPC3	c.2499G>C	NM_000256.3	NP_000247.2:p.(Ala833=)	NC_000011.9:g.47359045C>G	(Likely) benign	1 lab	6c43f4fac7
17:73836024 UNC13D C>T	17	73836024	73836024	C	T	UNC13D	c.952-1G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836024C>T	VUS	1 lab	6c4f8513d4
X:153133931 L1CAM G>A	X	153133931	153133931	G	A	L1CAM	c.1547-18C>T	NM_001278116.2	NP_001265045.1:p.?	NC_000023.10:g.153133931G>A	(Likely) benign	1 lab	6c557a6c33
X:132458578 GPC4 CAA>C	X	132458578	132458597	CAA	C	GPC4	c.320-16_320-15del	NM_001448.3	NP_001439.2:p.?	NC_000023.10:g.132458596_132458597del	(Likely) benign	1 lab	6c59aae097
22:36661891 APOL1 G>A	22	36661891	36661891	G	A	APOL1	c.1057G>A	NM_145343.2	NP_663318.1:p.(Asp353Asn)	NC_000022.10:g.36661891G>A	(Likely) benign	1 lab	6c5ad51334
9:6554703 GLDC C>T	9	6554703	6554703	C	T	GLDC	c.2281G>A	NM_000170.2	NP_000161.2:p.(Gly761Arg)	NC_000009.11:g.6554703C>T	(Likely) pathogenic	1 lab	6c5f347f2f
22:37332664 CSF2RB C>T	22	37332664	37332664	C	T	CSF2RB	c.1538C>T	NM_000395.3	NP_000386.1:p.(Pro513Leu)	NC_000022.10:g.37332664C>T	(Likely) benign	1 lab	6c609aced2
X:153133591 L1CAM G>A	X	153133591	153133591	G	A	L1CAM	c.1704-14C>T	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153133591G>A	(Likely) benign	1 lab	6c64a0dce2
16:50744754 NOD2 G>A	16	50744754	50744754	G	A	NOD2	c.932G>A	NM_022162.1	NP_071445.1:p.(Arg311Gln)	NC_000016.9:g.50744754G>A	(Likely) benign	1 lab	6c6e58b62d
5:126758373 MEGF10 C>T	5	126758373	126758373	C	T	MEGF10	c.1602C>T	NM_032446.3	NP_115822.1:p.(Tyr534=)	NC_000005.9:g.126758373C>T	(Likely) benign	1 lab	6c6e658319
4:154216821 TRIM2 C>T	4	154216821	154216821	C	T	TRIM2	c.1062C>T	NM_001130067.2	NP_001123539.1:p.(Asp354=)	NC_000004.11:g.154216821C>T	(Likely) benign	1 lab	6c6ff9fc76
20:62044936 KCNQ2 T>C	20	62044936	62044936	T	C	KCNQ2	c.1632-2A>G	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62044936T>C	(Likely) pathogenic	1 lab	6c78e9cb3f
16:9892340 GRIN2A A>G	16	9892340	9892340	A	G	GRIN2A	c.2169-19T>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9892340A>G	(Likely) benign	1 lab	6c79e7d2c1
10:81318736 SFTPA2 T>C	10	81318736	81318736	T	C	SFTPA2	c.198A>G	NM_001098668.4	NP_001092138.1:p.(Thr66=)	NC_000010.10:g.81318736T>C	(Likely) benign	1 lab	6c7a3e7e7b
1:247588457 NLRP3 G>C	1	247588457	247588457	G	C	NLRP3	c.1706G>C	NM_001243133.2	NP_001230062.1:p.(Gly569Ala)	NC_000001.10:g.247588457G>C	(Likely) pathogenic	1 lab	6c7c3d2303
18:2923865 LPIN2 A>G	18	2923865	2923865	A	G	LPIN2	c.2088-6T>C	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2923865A>G	(Likely) benign	1 lab	6c7f5f1c8a
1:226026510 EPHX1 G>A	1	226026510	226026510	G	A	EPHX1	c.520G>A	NM_001291163.2	NP_001278092.1:p.(Asp174Asn)	NC_000001.10:g.226026510G>A	VUS	1 lab	d1094e7e51
1:36940987 CSF3R G>A	1	36940987	36940987	G	A	CSF3R	c.352C>T	NM_000760.4	NP_000751.1:p.(Arg118Cys)	NC_000001.10:g.36940987G>A	(Likely) benign	1 lab	6c94dc88b5
16:2147362 PKD1 G>A	16	2147362	2147362	G	A	PKD1	c.10363C>T	NM_001009944.2	NP_001009944.2:p.(Leu3455=)	NC_000016.9:g.2147362G>A	(Likely) benign	1 lab	6c9a81a5ec
9:126135609 CRB2 G>A	9	126135609	126135609	G	A	CRB2	c.2799G>A	NM_173689.7	NP_775960.4:p.(Val933=)	NC_000009.11:g.126135609G>A	(Likely) benign	1 lab	6c9d8fc1f4
2:189899879 COL5A2 G>A	2	189899879	189899879	G	A	COL5A2	c.4116C>T	NM_000393.5	NP_000384.2:p.(Phe1372=)	NC_000002.11:g.189899879G>A	(Likely) benign	1 lab	6ca1a53580
11:63978800 FERMT3 C>G	11	63978800	63978800	C	G	FERMT3	c.568C>G	NM_031471.6	NP_113659.3:p.(Gln190Glu)	NC_000011.9:g.63978800C>G	(Likely) benign	1 lab	6ca2b10429
1:226127617 LEFTY2 C>T	1	226127617	226127617	C	T	LEFTY2	c.336G>A	NM_003240.5	NP_003231.2:p.(Glu112=)	NC_000001.10:g.226127617C>T	(Likely) benign	1 lab	6cacbbcc83
3:123367886 MYLK G>A	3	123367886	123367886	G	A	MYLK	c.4347C>T	NM_053025.3	NP_444253.3:p.(Tyr1449=)	NC_000003.11:g.123367886G>A	(Likely) benign	1 lab	6cb1eb55c5
2:228009259 COL4A4 AATGAGT>A	2	228009259	228009267	AATGAGT	A	COL4A4	c.81_86del	NM_000092.5	NP_000083.3:p.(Ile29_Leu30del)	NC_000002.11:g.228009262_228009267del	(Likely) pathogenic	1 lab	6cb5d4b8ad
5:176831085 F12 G>A	5	176831085	176831085	G	A	F12	c.1025C>T	NM_000505.3	NP_000496.2:p.(Pro342Leu)	NC_000005.9:g.176831085G>A	(Likely) benign	1 lab	6cb622fc95
2:45233411 SIX2 C>G	2	45233411	45233411	C	G	SIX2	c.774G>C	NM_016932.5	NP_058628.3:p.(Pro258=)	NC_000002.11:g.45233411C>G	(Likely) benign	1 lab	6cbf7c7a30
14:97342256 VRK1 C>T	14	97342256	97342256	C	T	VRK1	c.1069-111C>T	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97342256C>T	(Likely) benign	1 lab	6cc4b60919
5:36686231 SLC1A3 T>C	5	36686231	36686231	T	C	SLC1A3	c.1489T>C	NM_004172.5	NP_004163.3:p.(Leu497=)	NC_000005.9:g.36686231T>C	(Likely) benign	1 lab	6cc500d2cc
4:108944732 HADH G>A	4	108944732	108944732	G	A	HADH	c.636+13G>A	NM_005327.7	NP_005318.6:p.?	NC_000004.11:g.108944732G>A	(Likely) benign	1 lab	d10bf807c4
1:237057789 MTR G>A	1	237057789	237057789	G	A	MTR	c.3337G>A	NM_000254.2	NP_000245.2:p.(Ala1113Thr)	NC_000001.10:g.237057789G>A	(Likely) benign	1 lab	6ccc2d5839
16:2169132 PKD1 T>C	16	2169132	2169132	T	C	PKD1	c.342A>G	NM_001009944.2	NP_001009944.2:p.(Leu114=)	NC_000016.9:g.2169132T>C	(Likely) benign	1 lab	6ccd74f59d
4:155507876 FGA T>C	4	155507876	155507876	T	C	FGA	c.705A>G	NM_000508.3	NP_000499.1:p.(Gly235=)	NC_000004.11:g.155507876T>C	(Likely) benign	1 lab	6cce4625a5
1:151787180 RORC G>A	1	151787180	151787180	G	A	RORC	c.812-9C>T	NM_005060.4	NP_005051.2:p.?	NC_000001.10:g.151787180G>A	(Likely) benign	1 lab	6cced7125c
X:135106541 SLC9A6 T>C	X	135106541	135106541	T	C	SLC9A6	c.1515T>C	NM_001042537.1	NP_001036002.1:p.(Tyr505=)	NC_000023.10:g.135106541T>C	(Likely) benign	1 lab	6cd011ae88
2:217288440 SMARCAL1 C>A	2	217288440	217288440	C	A	SMARCAL1	c.1147+34C>A	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217288440C>A	(Likely) benign	1 lab	6cd9ef10b0
X:107844758 COL4A5 CT>C	X	107844758	107844776	CT	C	COL4A5	c.2041+61del	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107844776del	(Likely) benign	1 lab	6cdd806c80
1:223284833 TLR5 A>G	1	223284833	223284833	A	G	TLR5	c.1541T>C	NM_003268.6	NP_003259.2:p.(Leu514Pro)	NC_000001.10:g.223284833A>G	VUS	1 lab	6ce1c3adf5
11:63979112 FERMT3 C>G	11	63979112	63979112	C	G	FERMT3	c.684-5C>G	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63979112C>G	(Likely) benign	1 lab	6cea207cac
9:139326258 INPP5E G>A	9	139326258	139326258	G	A	INPP5E	c.1549+18C>T	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139326258G>A	(Likely) benign	1 lab	6ceb5f4926
1:214815298 CENPF A>G	1	214815298	214815298	A	G	CENPF	c.3617A>G	NM_016343.4	NP_057427.3:p.(Tyr1206Cys)	NC_000001.10:g.214815298A>G	(Likely) benign	1 lab	6d1cbe27c8
16:31501715 SLC5A2 G>C	16	31501715	31501715	G	C	SLC5A2	c.1878G>C	NM_003041.4	NP_003032.1:p.(Pro626=)	NC_000016.9:g.31501715G>C	(Likely) benign	1 lab	6cef8c5349
8:48815186 PRKDC T>C	8	48815186	48815186	T	C	PRKDC	c.3212A>G	NM_006904.6	NP_008835.5:p.(Asn1071Ser)	NC_000008.10:g.48815186T>C	(Likely) benign	1 lab	6cefb4a4d6
16:51174251 SALL1 C>CACG	16	51174251	51174254	C	CACG	SALL1	c.1881_1882insCGT	NM_002968.3	NP_002959.2:p.(Ser627_Gly628insArg)	NC_000016.9:g.51174253_51174254insGAC	VUS	1 lab	d10ef6ab00
16:9934970 GRIN2A A>C	16	9934970	9934970	A	C	GRIN2A	c.1329-9T>G	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9934970A>C	(Likely) benign	1 lab	6cf9398406
22:36697694 MYH9 C>T	22	36697694	36697694	C	T	MYH9	c.2517G>A	NM_002473.5	NP_002464.1:p.(Gln839=)	NC_000022.10:g.36697694C>T	(Likely) benign	1 lab	6d072dab73
17:44061317 MAPT C>T	17	44061317	44061317	C	T	MAPT	c.1126+21C>T	NM_001123066.3	NP_001116538.2:p.?	NC_000017.10:g.44061317C>T	(Likely) benign	1 lab	6d083a12bd
2:179425894 TTN C>T	2	179425894	179425894	C	T	TTN	c.58145G>A	NM_133432.3	NP_597676.3:p.(Arg19382His)	NC_000002.11:g.179425894C>T	VUS	1 lab	6d0a6fb6dc
5:90069887 ADGRV1 C>CA	5	90069887	90069893	C	CA	ADGRV1	c.12286-110dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90069893dup	(Likely) benign	1 lab	6d0b90aef0
5:176830413 F12 G>C	5	176830413	176830413	G	C	F12	c.1388-15C>G	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176830413G>C	(Likely) benign	1 lab	6d0f3e9a60
15:67073566 SMAD6 A>G	15	67073566	67073566	A	G	SMAD6	c.1184A>G	NM_005585.5	NP_005576.3:p.(Lys395Arg)	NC_000015.9:g.67073566A>G	(Likely) benign	1 lab	6d10b69e28
9:139401039 NOTCH1 A>T	9	139401039	139401039	A	T	NOTCH1	c.3954T>A	NM_017617.5	NP_060087.3:p.(Asn1318Lys)	NC_000009.11:g.139401039A>T	VUS	1 lab	6d11b3331f
11:117869556 IL10RA C>T	11	117869556	117869556	C	T	IL10RA	c.937C>T	NM_001558.3	NP_001549.2:p.(Leu313=)	NC_000011.9:g.117869556C>T	(Likely) benign	1 lab	6d18c4c699
9:137709647 COL5A1 C>T	9	137709647	137709647	C	T	COL5A1	c.4200C>T	NM_000093.4	NP_000084.3:p.(Pro1400=)	NC_000009.11:g.137709647C>T	(Likely) benign	1 lab	6d2309183a
14:65259818 SPTB C>CGTGTACAG	14	65259818	65259820	C	CGTGTACAG	SPTB	c.2562_2563insCTGTACAC	NM_001355436.2	NP_001342365.1:p.(Gly855LeufsTer46)	NC_000014.8:g.65259819_65259820insTGTACAGG	(Likely) pathogenic	1 lab	6d23b33f66
1:7980972 TNFRSF9 GT>G	1	7980972	7980973	GT	G	TNFRSF9	c.690del	NM_001561.6	NP_001552.2:p.(Arg230SerfsTer45)	NC_000001.10:g.7980973del	(Likely) pathogenic	1 lab	6d291dac25
9:14775729 FREM1 A>G	9	14775729	14775729	A	G	FREM1	c.4857+58T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14775729A>G	(Likely) benign	1 lab	6d2f77f5ab
1:949422 ISG15 G>A	1	949422	949422	G	A	ISG15	c.62G>A	NM_005101.4	NP_005092.1:p.(Ser21Asn)	NC_000001.10:g.949422G>A	(Likely) benign	1 lab	6d315644ea
16:81904471 PLCG2 C>G	16	81904471	81904471	C	G	PLCG2	c.579C>G	NM_002661.3	NP_002652.2:p.(His193Gln)	NC_000016.9:g.81904471C>G	(Likely) benign	1 lab	6d35ab24ea
1:247588074 NLRP3 C>T	1	247588074	247588074	C	T	NLRP3	c.1323C>T	NM_001243133.2	NP_001230062.1:p.(Tyr441=)	NC_000001.10:g.247588074C>T	(Likely) benign	1 lab	6d379b43d6
1:74797124 TNNI3K T>C	1	74797124	74797124	T	C	TNNI3K	c.445-10T>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74797124T>C	(Likely) benign	1 lab	6d38c1783c
19:52249615 FPR1 G>A	19	52249615	52249615	G	A	FPR1	c.633C>T	NM_002029.3	NP_002020.1:p.(Ser211=)	NC_000019.9:g.52249615G>A	(Likely) benign	1 lab	6d3aa8a50b
5:35874603 IL7R C>T	5	35874603	35874603	C	T	IL7R				NC_000005.9:g.35874603C>T	(Likely) benign	1 lab	6d3d4a19b6
14:74425926 COQ6 C>T	14	74425926	74425926	C	T	COQ6	c.782C>T	NM_182476.3	NP_872282.1:p.(Pro261Leu)	NC_000014.8:g.74425926C>T	(Likely) pathogenic	1 lab	6d3d6e1a59
18:32374081 DTNA A>G	18	32374081	32374081	A	G	DTNA	c.229A>G	NM_001198939.2	NP_001185868.1:p.(Asn77Asp)	NC_000018.9:g.32374081A>G	(Likely) benign	1 lab	6d425e1ac6
6:112438925 LAMA4 A>C	6	112438925	112438925	A	C	LAMA4	c.4981+17T>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112438925A>C	(Likely) benign	1 lab	6d45728a96
17:61557773 ACE A>G	17	61557773	61557773	A	G	ACE	c.731A>G	NM_000789.4	NP_000780.1:p.(Tyr244Cys)	NC_000017.10:g.61557773A>G	(Likely) benign	1 lab	6d45c66610
13:48916760 RB1 A>T	13	48916760	48916760	A	T	RB1	c.290A>T	NM_000321.3	NP_000312.2:p.(Glu97Val)	NC_000013.10:g.48916760A>T	VUS	1 lab	d10f2b43f7
3:123376205 MYLK C>A	3	123376205	123376205	C	A	MYLK	c.4056G>T	NM_053025.3	NP_444253.3:p.(Trp1352Cys)	NC_000003.11:g.123376205C>A	VUS	1 lab	6d480ab954
4:9943542 SLC2A9 A>G	4	9943542	9943542	A	G	SLC2A9	c.809T>C	NM_020041.3	NP_064425.2:p.(Val270Ala)	NC_000004.11:g.9943542A>G	(Likely) benign	1 lab	6d4def1feb
17:36047276 HNF1B G>T	17	36047276	36047276	G	T	HNF1B	c.*99C>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047276G>T	(Likely) benign	1 lab	d111321d96
5:41181566 C6 CT>C	5	41181566	41181567	CT	C	C6	c.821del	NM_000065.5	NP_000056.2:p.(Gln274ArgfsTer46)	NC_000005.9:g.41181567del	(Likely) pathogenic	1 lab	6d5228e75d
5:90159453 ADGRV1 G>T	5	90159453	90159453	G	T	ADGRV1	c.17756-121G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90159453G>T	(Likely) benign	1 lab	6d55ac342d
1:237872297 RYR2 C>T	1	237872297	237872297	C	T	RYR2	c.10041C>T	NM_001035.3	NP_001026.2:p.(Asp3347=)	NC_000001.10:g.237872297C>T	(Likely) benign	1 lab	6d58e461a3
2:32449734 NLRC4 A>G	2	32449734	32449734	A	G	NLRC4	c.2883T>C	NM_021209.4	NP_067032.3:p.(Phe961=)	NC_000002.11:g.32449734A>G	(Likely) benign	1 lab	6d5a60d15a
12:88586571 TMTC3 G>A	12	88586571	88586571	G	A	TMTC3	c.1897G>A	NM_181783.4	NP_861448.2:p.(Ala633Thr)	NC_000012.11:g.88586571G>A	VUS	1 lab	d11524caaa
X:100629524 BTK C>A	X	100629524	100629524	C	A	BTK	c.240G>T	NM_000061.2	NP_000052.1:p.(Pro80=)	NC_000023.10:g.100629524C>A	(Likely) pathogenic	1 lab	6d5d85a4a3
7:91863892 KRIT1 AC>A	7	91863892	91863895	AC	A	KRIT1	c.859del	NM_194454.3	NP_919436.1:p.(Val287Ter)	NC_000007.13:g.91863895del	(Likely) pathogenic	1 lab	6d5e9c775a
9:131339615 SPTAN1 C>T	9	131339615	131339615	C	T	SPTAN1	c.931-16C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131339615C>T	(Likely) benign	1 lab	6d60d05a3b
16:69724823 NFAT5 T>G	16	69724823	69724823	T	G	NFAT5	c.1493-20T>G	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69724823T>G	(Likely) benign	1 lab	6d658b2cf4
19:38948770 RYR1 G>A	19	38948770	38948770	G	A	RYR1	c.2005G>A	NM_000540.2	NP_000531.2:p.(Glu669Lys)	NC_000019.9:g.38948770G>A	VUS	1 lab	6d6817ffde
8:145540979 DGAT1 AC>A	8	145540979	145540983	AC	A	DGAT1	c.1094+16del	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145540983del	(Likely) benign	1 lab	6d69b58d5c
6:7570669 DSP G>T	6	7570669	7570669	G	T	DSP	c.1575-1G>T	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7570669G>T	(Likely) pathogenic	1 lab	6d6a259a14
14:65216961 SPTB C>A	14	65216961	65216961	C	A	SPTB	c.6603-89G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65216961C>A	(Likely) benign	1 lab	6d6d701189
10:96013927 PLCE1 C>T	10	96013927	96013927	C	T	PLCE1	c.3280-20C>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96013927C>T	(Likely) benign	1 lab	6d7177fae7
4:79436778 FRAS1 G>A	4	79436778	79436778	G	A	FRAS1	c.10175-175G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79436778G>A	(Likely) benign	1 lab	6d726f8a55
5:176072210 EIF4E1B G>A	5	176072210	176072210	G	A	EIF4E1B	c.440G>A	NM_001099408.2	NP_001092878.1:p.(Arg147His)	NC_000005.9:g.176072210G>A	(Likely) benign	1 lab	6d73f45b07
10:78704737 KCNMA1 G>A	10	78704737	78704737	G	A	KCNMA1	c.2548-14C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78704737G>A	(Likely) benign	1 lab	6d7bb4cc31
9:14770825 FREM1 T>C	9	14770825	14770825	T	C	FREM1	c.4858-21A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14770825T>C	(Likely) benign	1 lab	6d801a1d86
9:399361 DOCK8 T>A	9	399361	399361	T	A	DOCK8	c.3234+102T>A	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.399361T>A	(Likely) benign	1 lab	6d81547535
13:32912618 BRCA2 G>C	13	32912618	32912618	G	C	BRCA2	c.4126G>C	NM_000059.3	NP_000050.2:p.(Gly1376Arg)	NC_000013.10:g.32912618G>C	(Likely) benign	1 lab	6d87453968
1:220330704 RAB3GAP2 C>T	1	220330704	220330704	C	T	RAB3GAP2	c.3463G>A	NM_012414.4	NP_036546.2:p.(Val1155Met)	NC_000001.10:g.220330704C>T	VUS	1 lab	d1186d2f08
5:157182032 LSM11 C>G	5	157182032	157182032	C	G	LSM11	c.843C>G	NM_173491.4	NP_775762.1:p.(Val281=)	NC_000005.9:g.157182032C>G	(Likely) benign	1 lab	6d958647c1
4:78989672 FRAS1 G>C	4	78989672	78989672	G	C	FRAS1	c.108+2502G>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78989672G>C	(Likely) benign	1 lab	6d9c4d1968
15:93558180 CHD2 A>G	15	93558180	93558180	A	G	CHD2	c.4906+41A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93558180A>G	(Likely) benign	1 lab	6d9dc0fa67
1:155261673 PKLR G>A	1	155261673	155261673	G	A	PKLR	c.1492C>T	NM_000298.6	NP_000289.1:p.(Arg498Cys)	NC_000001.10:g.155261673G>A	(Likely) pathogenic	1 lab	6d9faf2396
16:20352393 UMOD T>A	16	20352393	20352393	T	A	UMOD	c.1577+20A>T	NM_003361.3	NP_003352.2:p.?	NC_000016.9:g.20352393T>A	(Likely) benign	1 lab	6da54a1936
2:166153483 SCN2A A>G	2	166153483	166153483	A	G	SCN2A	c.268-44A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166153483A>G	(Likely) benign	1 lab	6da93814bc
11:58979599 MPEG1 G>T	11	58979599	58979599	G	T	MPEG1	c.740C>A	NM_001039396.2	NP_001034485.1:p.(Thr247Asn)	NC_000011.9:g.58979599G>T	(Likely) benign	1 lab	6daa12b9fb
17:10432319 MYH2 G>A	17	10432319	10432319	G	A	MYH2	c.3432C>T	NM_017534.6	NP_060004.3:p.(Asp1144=)	NC_000017.10:g.10432319G>A	(Likely) benign	1 lab	6dabc56479
16:81892043 PLCG2 G>A	16	81892043	81892043	G	A	PLCG2	c.431+82G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81892043G>A	(Likely) benign	1 lab	6dae987c0b
8:30560775 GSR A>C	8	30560775	30560775	A	C	GSR	c.493-18T>G	NM_000637.5	NP_000628.2:p.?	NC_000008.10:g.30560775A>C	(Likely) benign	1 lab	6daf9cee88
18:47383243 MYO5B C>T	18	47383243	47383243	C	T	MYO5B	c.3962G>A	NM_001080467.3	NP_001073936.1:p.(Gly1321Glu)	NC_000018.9:g.47383243C>T	(Likely) benign	1 lab	6db7018fc3
2:217280151 SMARCAL1 G>A	2	217280151	217280151	G	A	SMARCAL1	c.724G>A	NM_014140.3	NP_054859.2:p.(Val242Ile)	NC_000002.11:g.217280151G>A	(Likely) benign	1 lab	6db88966b6
9:6645251 GLDC C>T	9	6645251	6645251	C	T	GLDC	c.249G>A	NM_000170.2	NP_000161.2:p.(Gly83=)	NC_000009.11:g.6645251C>T	(Likely) benign	1 lab	6db8c66c1d
4:6615954 MAN2B2 C>A	4	6615954	6615954	C	A	MAN2B2	c.2573C>A	NM_015274.3	NP_056089.1:p.(Pro858Gln)	NC_000004.11:g.6615954C>A	(Likely) benign	1 lab	6dc183ec9f
16:75301838 BCAR1 G>C	16	75301838	75301838	G	C	BCAR1	c.41C>G	NM_001170715.3	NP_001164186.1:p.(Pro14Arg)	NC_000016.9:g.75301838G>C	(Likely) benign	1 lab	6dc19a2fe2
15:90173735 KIF7 G>A	15	90173735	90173735	G	A	KIF7	c.3112-11C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90173735G>A	(Likely) benign	1 lab	6dc919e4fd
16:81819740 PLCG2 C>T	16	81819740	81819740	C	T	PLCG2	c.146C>T	NM_002661.3	NP_002652.2:p.(Thr49Met)	NC_000016.9:g.81819740C>T	VUS	1 lab	6dce30f118
7:146805228 CNTNAP2 T>G	7	146805228	146805228	T	G	CNTNAP2	c.551-11T>G	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146805228T>G	(Likely) benign	1 lab	6dd29ee0d6
16:2547867 TBC1D24 C>T	16	2547867	2547867	C	T	TBC1D24	c.983+139C>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547867C>T	(Likely) benign	1 lab	6ddb6eeb1b
12:14018783 GRIN2B G>A	12	14018783	14018783	G	A	GRIN2B	c.360C>T	NM_000834.4	NP_000825.2:p.(Leu120=)	NC_000012.11:g.14018783G>A	(Likely) benign	1 lab	6ddf40ce29
13:35736069 NBEA A>G	13	35736069	35736069	A	G	NBEA	c.4044A>G	NM_015678.4	NP_056493.3:p.(Leu1348=)	NC_000013.10:g.35736069A>G	(Likely) benign	1 lab	6de235f2f2
4:84200269 COQ2 T>C	4	84200269	84200269	T	C	COQ2	c.404-2A>G	NM_015697.8	NP_056512.5:p.?	NC_000004.11:g.84200269T>C	(Likely) pathogenic	1 lab	6de25868a7
4:86915724 ARHGAP24 A>G	4	86915724	86915724	A	G	ARHGAP24	c.929-12A>G	NM_001025616.3	NP_001020787.2:p.?	NC_000004.11:g.86915724A>G	(Likely) benign	1 lab	6deac383e1
1:154560601 ADAR C>T	1	154560601	154560601	C	T	ADAR	c.3019G>A	NM_001111.5	NP_001102.3:p.(Gly1007Arg)	NC_000001.10:g.154560601C>T	(Likely) pathogenic	1 lab	6dec0153c0
11:47362762 MYBPC3 A>G	11	47362762	47362762	A	G	MYBPC3	c.1824T>C	NM_000256.3	NP_000247.2:p.(Pro608=)	NC_000011.9:g.47362762A>G	(Likely) benign	1 lab	6def61e407
7:73474914 ELN C>T	7	73474914	73474914	C	T	ELN	c.1917C>T	NM_001278939.1	NP_001265868.1:p.(Thr639=)	NC_000007.13:g.73474914C>T	(Likely) benign	1 lab	6df0c37d1d
16:78142301 WWOX A>ATT	16	78142301	78142307	A	ATT	WWOX	c.108-14_108-13dup	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78142306_78142307dup	(Likely) benign	1 lab	6df5672c16
6:33635074 ITPR3 C>T	6	33635074	33635074	C	T	ITPR3	c.1713+7C>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33635074C>T	(Likely) benign	1 lab	6df68be306
16:88782891 PIEZO1 C>T	16	88782891	88782891	C	T	PIEZO1	c.6927G>A	NM_001142864.4	NP_001136336.2:p.(Arg2309=)	NC_000016.9:g.88782891C>T	(Likely) benign	1 lab	6df6fccea1
6:32802938 TAP2 C>T	6	32802938	32802938	C	T	TAP2	c.938G>A	NM_018833.2	NP_061313.2:p.(Arg313His)	NC_000006.11:g.32802938C>T	(Likely) benign	1 lab	6df839aa8b
7:2984185 CARD11 G>A	7	2984185	2984185	G	A	CARD11	c.359-14C>T	NM_001324281.2	NP_001311210.1:p.?	NC_000007.13:g.2984185G>A	(Likely) benign	1 lab	6df98252cb
2:228175415 COL4A3 CA>C	2	228175415	228175425	CA	C	COL4A3	c.4756-67del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228175425del	(Likely) benign	1 lab	6df99b72f9
17:41249094 BRCA1 A>G	17	41249094	41249094	A	G	BRCA1	c.593+167T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249094A>G	(Likely) benign	1 lab	6dfb791fb8
6:30995427 MUC22 A>C	6	30995427	30995427	A	C	MUC22	c.2219A>C	NM_001198815.1	NP_001185744.1:p.(Asn740Thr)	NC_000006.11:g.30995427A>C	(Likely) benign	1 lab	6dfcfa6fac
11:47363611 MYBPC3 C>T	11	47363611	47363611	C	T	MYBPC3	c.1721G>A	NM_000256.3	NP_000247.2:p.(Arg574Gln)	NC_000011.9:g.47363611C>T	VUS	1 lab	6dfee5513d
4:187510072 FAT1 G>A	4	187510072	187510072	G	A	FAT1	c.13441C>T	NM_005245.4	NP_005236.2:p.(Arg4481Trp)	NC_000004.11:g.187510072G>A	(Likely) benign	1 lab	6dffec1933
14:65268451 SPTB C>T	14	65268451	65268451	C	T	SPTB	c.647+21G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268451C>T	(Likely) benign	1 lab	6e5db07cd5
12:110019278 MVK G>A	12	110019278	110019278	G	A	MVK	c.450G>A	NM_000431.2	NP_000422.1:p.(Ser150=)	NC_000012.11:g.110019278G>A	(Likely) benign	1 lab	6e030045bc
8:143958479 CYP11B1 G>A	8	143958479	143958479	G	A	CYP11B1	c.555C>T	NM_000497.3	NP_000488.3:p.(Thr185=)	NC_000008.10:g.143958479G>A	(Likely) benign	1 lab	6e0f2cefe3
11:2400656 CD81 GGA>G	11	2400656	2400661	GGA	G	CD81	c.66+1815_66+1816del	NM_004356.4	NP_004347.1:p.?	NC_000011.9:g.2400660_2400661del	(Likely) benign	1 lab	6e0f4a68f0
12:111057705 TCTN1 C>T	12	111057705	111057705	C	T	TCTN1	c.285C>T	NM_001082538.3	NP_001076007.1:p.(Pro95=)	NC_000012.11:g.111057705C>T	(Likely) benign	1 lab	6e13c31d33
6:146027152 EPM2A G>A	6	146027152	146027152	G	A	EPM2A	c.302-19720C>T	NM_001018041.2	NP_001018051.1:p.?	NC_000006.11:g.146027152G>A	(Likely) benign	1 lab	6e1888c73c
10:88439933 LDB3 G>A	10	88439933	88439933	G	A	LDB3	c.321+19G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88439933G>A	(Likely) benign	1 lab	6e21ecd37d
11:1862714 TNNI2 G>A	11	1862714	1862714	G	A	TNNI2	c.482G>A	NM_001145829.2	NP_001139301.1:p.(Trp161Ter)	NC_000011.9:g.1862714G>A	(Likely) pathogenic	1 lab	6e24ed9748
8:17921961 ASAH1 A>G	8	17921961	17921961	A	G	ASAH1	c.505+5T>C	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17921961A>G	(Likely) benign	1 lab	6f2e7347f5
17:72791667 SLC38A12 G>A	17	72791667	72791667	G	A	SLC38A12	c.532G>A	NM_017728.4	NP_060198.3:p.(Ala178Thr)	NC_000017.10:g.72791667G>A	(Likely) benign	1 lab	6e25aff071
13:39265412 FREM2 G>T	13	39265412	39265412	G	T	FREM2	c.3931G>T	NM_207361.6	NP_997244.4:p.(Gly1311Ter)	NC_000013.10:g.39265412G>T	(Likely) pathogenic	1 lab	6e271474fd
16:67683499 CARMIL2 G>T	16	67683499	67683499	G	T	CARMIL2	c.1896G>T	NM_001013838.3	NP_001013860.1:p.(Ala632=)	NC_000016.9:g.67683499G>T	(Likely) benign	1 lab	6e29611a7c
9:124083615 GSN G>A	9	124083615	124083615	G	A	GSN	c.1414G>A	NM_000177.5	NP_000168.1:p.(Asp472Asn)	NC_000009.11:g.124083615G>A	(Likely) benign	1 lab	6e2b78bcb3
1:47770669 STIL C>T	1	47770669	47770669	C	T	STIL	c.45-1G>A	NM_001282936.1	NP_001269865.1:p.?	NC_000001.10:g.47770669C>T	(Likely) pathogenic	1 lab	6e2ccf5e98
1:160109918 ATP1A2 G>A	1	160109918	160109918	G	A	ATP1A2				NC_000001.10:g.160109918G>A	(Likely) benign	1 lab	6e2f5775ea
17:78168989 CARD14 G>A	17	78168989	78168989	G	A	CARD14	c.1357-1G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78168989G>A	(Likely) pathogenic	1 lab	6e2fd51409
2:109399168 RANBP2 C>T	2	109399168	109399168	C	T	RANBP2	c.9219C>T	NM_006267.4	NP_006258.3:p.(Asp3073=)	NC_000002.11:g.109399168C>T	(Likely) benign	1 lab	6e39cf3295
5:161281052 GABRA1 G>A	5	161281052	161281052	G	A	GABRA1	c.75-112G>A	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161281052G>A	(Likely) benign	1 lab	6e3b18d58a
1:243542119 SDCCAG8 C>CT	1	243542119	243542120	C	CT	SDCCAG8	c.1571dup	NM_006642.5	NP_006633.1:p.(Thr525AsnfsTer8)	NC_000001.10:g.243542120dup	(Likely) pathogenic	1 lab	6e3f146b1e
1:240070944 CHRM3 G>A	1	240070944	240070944	G	A	CHRM3	c.193G>A	NM_000740.3	NP_000731.1:p.(Val65Ile)	NC_000001.10:g.240070944G>A	(Likely) benign	1 lab	6e410157d6
8:133186511 KCNQ3 C>A	8	133186511	133186511	C	A	KCNQ3	c.1019G>T	NM_004519.4	NP_004510.1:p.(Gly340Val)	NC_000008.10:g.133186511C>A	VUS	1 lab	6e490cccca
1:237798308 RYR2 G>T	1	237798308	237798308	G	T	RYR2	c.6792+16G>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237798308G>T	(Likely) benign	1 lab	6e490dac77
3:183888180 DVL3 C>T	3	183888180	183888180	C	T	DVL3	c.1788C>T	NM_004423.4	NP_004414.3:p.(Ser596=)	NC_000003.11:g.183888180C>T	(Likely) benign	1 lab	6e4a8f8af2
14:65245863 SPTB C>G	14	65245863	65245863	C	G	SPTB	c.4563+12G>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65245863C>G	(Likely) benign	1 lab	6e4b2b0d6f
16:1260673 CACNA1H G>A	16	1260673	1260673	G	A	CACNA1H	c.4038+22G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260673G>A	(Likely) benign	1 lab	6e5a1b313d
X:119680979 CUL4B T>A	X	119680979	119680979	T	A	CUL4B	c.830+12A>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119680979T>A	(Likely) benign	1 lab	6e5a9e8d19
16:53671851 RPGRIP1L A>T	16	53671851	53671851	A	T	RPGRIP1L	c.3061-85T>A	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53671851A>T	(Likely) benign	1 lab	6e6823d75a
2:167129140 SCN9A G>C	2	167129140	167129140	G	C	SCN9A	c.3087C>G	NM_002977.3	NP_002968.1:p.(Asn1029Lys)	NC_000002.11:g.167129140G>C	VUS	1 lab	d1262b74dd
14:102446146 DYNC1H1 G>A	14	102446146	102446146	G	A	DYNC1H1	c.609G>A	NM_001376.4	NP_001367.2:p.(Pro203=)	NC_000014.8:g.102446146G>A	(Likely) benign	1 lab	6e792632f1
18:43458960 EPG5 G>A	18	43458960	43458960	G	A	EPG5	c.5869+18C>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43458960G>A	(Likely) benign	1 lab	6e80a171ed
18:55398876 ATP8B1 C>T	18	55398876	55398876	C	T	ATP8B1	c.164G>A	NM_005603.6	NP_005594.2:p.(Arg55Gln)	NC_000018.9:g.55398876C>T	VUS	1 lab	6e8425a978
7:92080047 GATAD1 A>T	7	92080047	92080047	A	T	GATAD1	c.408A>T	NM_021167.5	NP_066990.3:p.(Ile136=)	NC_000007.13:g.92080047A>T	(Likely) benign	1 lab	6e85287475
2:98354368 ZAP70 C>T	2	98354368	98354368	C	T	ZAP70	c.1623+8C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98354368C>T	(Likely) benign	1 lab	6e85c87e83
4:170322819 NEK1 G>A	4	170322819	170322819	G	A	NEK1	c.3567C>T	NM_001374418.1	NP_001361347.1:p.(Asn1189=)	NC_000004.11:g.170322819G>A	(Likely) benign	1 lab	6e8b519778
5:176930333 DOK3 C>T	5	176930333	176930333	C	T	DOK3	c.706G>A	NM_001144875.2	NP_001138347.1:p.(Val236Ile)	NC_000005.9:g.176930333C>T	(Likely) benign	1 lab	6e8c43aa99
1:62739027 KANK4 C>T	1	62739027	62739027	C	T	KANK4	c.1749G>A	NM_181712.5	NP_859063.3:p.(Pro583=)	NC_000001.10:g.62739027C>T	(Likely) benign	1 lab	6e8d1c371b
20:62319972 RTEL1 C>T	20	62319972	62319972	C	T	RTEL1	c.1800+14C>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62319972C>T	(Likely) benign	1 lab	6e8e4f636b
15:56387208 RFX7 G>T	15	56387208	56387208	G	T	RFX7	c.2718C>A	NM_022841.7	NP_073752.6:p.(Tyr906Ter)	NC_000015.9:g.56387208G>T	(Likely) pathogenic	1 lab	6e8ec91ced
11:32437914 WT1 T>G	11	32437914	32437914	T	G	WT1				NC_000011.9:g.32437914T>G	(Likely) benign	1 lab	6e8f65993a
17:35297925 LHX1 C>A	17	35297925	35297925	C	A	LHX1	c.416C>A	NM_005568.5	NP_005559.2:p.(Pro139His)	NC_000017.10:g.35297925C>A	(Likely) benign	1 lab	6e8feaf1f9
19:13419158 CACNA1A T>C	19	13419158	13419158	T	C	CACNA1A	c.1784+72A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13419158T>C	(Likely) benign	1 lab	6e9008de47
16:50745275 NOD2 C>T	16	50745275	50745275	C	T	NOD2	c.1453C>T	NM_022162.1	NP_071445.1:p.(Leu485=)	NC_000016.9:g.50745275C>T	(Likely) benign	1 lab	6e9242c7e9
4:114277916 ANK2 T>A	4	114277916	114277916	T	A	ANK2	c.8142T>A	NM_001148.4	NP_001139.3:p.(Val2714=)	NC_000004.11:g.114277916T>A	(Likely) benign	1 lab	6e926ac0ee
17:5487161 NLRP1 A>C	17	5487161	5487161	A	C	NLRP1	c.117T>G	NM_033004.4	NP_127497.1:p.(Gly39=)	NC_000017.10:g.5487161A>C	(Likely) benign	1 lab	6e92e0a9ad
X:99658670 PCDH19 G>A	X	99658670	99658670	G	A	PCDH19	c.2148-8C>T	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99658670G>A	(Likely) benign	1 lab	6e956c3ab1
8:143994162 CYP11B2 A>G	8	143994162	143994162	A	G	CYP11B2	c.1201-19T>C	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143994162A>G	(Likely) benign	1 lab	6e9bd75f7c
20:61048443 GATA5 C>T	20	61048443	61048443	C	T	GATA5	c.699+16G>A	NM_080473.5	NP_536721.1:p.?	NC_000020.10:g.61048443C>T	(Likely) benign	1 lab	6e9c01d82a
1:237923105 RYR2 G>A	1	237923105	237923105	G	A	RYR2	c.11355G>A	NM_001035.3	NP_001026.2:p.(Lys3785=)	NC_000001.10:g.237923105G>A	(Likely) benign	1 lab	6ea3d8d679
2:113887135 IL1RN A>C	2	113887135	113887135	A	C	IL1RN	c.15-18A>C	NM_173843.3	NP_776215.1:p.?	NC_000002.11:g.113887135A>C	(Likely) benign	1 lab	6eadd6dc11
4:2831854 SH3BP2 G>GCCGCAGCTC	4	2831854	2831868	G	GCCGCAGCTC	SH3BP2	c.1311_1319dup	NM_001145855.2	NP_001139327.1:p.(Gln437_Pro439dup)	NC_000004.11:g.2831860_2831868dup	VUS	1 lab	d126d49ec5
4:126411519 FAT4 C>T	4	126411519	126411519	C	T	FAT4				NC_000004.11:g.126411519C>T	(Likely) benign	1 lab	6eb5c0bd48
5:60194107 ERCC8 G>T	5	60194107	60194107	G	T	ERCC8	c.839C>A	NM_000082.3	NP_000073.1:p.(Thr280Lys)	NC_000005.9:g.60194107G>T	(Likely) benign	1 lab	6eb6e5faf6
8:145008155 PLEC C>CCG	8	145008155	145008156	C	CCG	PLEC	c.1674+10_1674+11insCG	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145008155_145008156insCG	VUS	1 lab	6eb9059f5c
7:106508396 PIK3CG G>C	7	106508396	106508396	G	C	PIK3CG	c.390G>C	NM_002649.3	NP_002640.2:p.(Arg130=)	NC_000007.13:g.106508396G>C	(Likely) benign	1 lab	6eba6ced15
19:54299187 NLRP12 G>A	19	54299187	54299187	G	A	NLRP12	c.3024C>T	NM_144687.4	NP_653288.1:p.(Asn1008=)	NC_000019.9:g.54299187G>A	(Likely) benign	1 lab	6ebb3ad646
12:52307831 ACVRL1 G>A	12	52307831	52307831	G	A	ACVRL1	c.599G>A	NM_000020.2	NP_000011.2:p.(Arg200Gln)	NC_000012.11:g.52307831G>A	VUS	1 lab	6ebb9a4211
4:79437008 FRAS1 C>T	4	79437008	79437008	C	T	FRAS1	c.10230C>T	NM_025074.7	NP_079350.5:p.(Tyr3410=)	NC_000004.11:g.79437008C>T	(Likely) benign	1 lab	6ebdf45ab1
1:158585005 SPTA1 C>T	1	158585005	158585005	C	T	SPTA1	c.6788+1G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158585005C>T	(Likely) pathogenic	1 lab	6ebf7fdcc2
15:43512995 EPB42 G>A	15	43512995	43512995	G	A	EPB42	c.29C>T	NM_000119.3	NP_000110.2:p.(Ser10Leu)	NC_000015.9:g.43512995G>A	(Likely) benign	1 lab	6ec6319015
12:13768738 GRIN2B C>T	12	13768738	13768738	C	T	GRIN2B	c.1329-140G>A	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13768738C>T	(Likely) benign	1 lab	6ec664168a
9:131671246 LRRC8A T>C	9	131671246	131671246	T	C	LRRC8A	c.1803T>C	NM_019594.3	NP_062540.2:p.(Cys601=)	NC_000009.11:g.131671246T>C	(Likely) benign	1 lab	6ecd3b8300
16:2150263 PKD1 G>A	16	2150263	2150263	G	A	PKD1	c.9616C>T	NM_001009944.2	NP_001009944.2:p.(Gln3206Ter)	NC_000016.9:g.2150263G>A	(Likely) pathogenic	1 lab	6ecd7b3248
10:97975125 BLNK T>C	10	97975125	97975125	T	C	BLNK	c.628A>G	NM_013314.3	NP_037446.1:p.(Thr210Ala)	NC_000010.10:g.97975125T>C	(Likely) benign	1 lab	6ecf2181b6
15:43022797 CDAN1 G>A	15	43022797	43022797	G	A	CDAN1	c.2173C>T	NM_138477.4	NP_612486.2:p.(Arg725Trp)	NC_000015.9:g.43022797G>A	(Likely) pathogenic	1 lab	6ed12c192e
9:94871059 SPTLC1 T>G	9	94871059	94871059	T	G	SPTLC1	c.223A>C	NM_001281303.2	NP_001268232.1:p.(Lys75Gln)	NC_000009.11:g.94871059T>G	VUS	1 lab	6ed41fb6f5
19:40903367 PRX G>A	19	40903367	40903367	G	A	PRX	c.892C>T	NM_181882.2	NP_870998.2:p.(Pro298Ser)	NC_000019.9:g.40903367G>A	(Likely) benign	1 lab	6ed571de85
11:20658786 SLC6A5 G>T	11	20658786	20658786	G	T	SLC6A5	c.1806G>T	NM_004211.5	NP_004202.4:p.(Lys602Asn)	NC_000011.9:g.20658786G>T	(Likely) pathogenic	1 lab	6ed7f632d7
1:161193683 APOA2 G>A	1	161193683	161193683	G	A	APOA2				NC_000001.10:g.161193683G>A	(Likely) benign	1 lab	6edab4a6cc
14:24620480 RNF31 C>T	14	24620480	24620480	C	T	RNF31	c.1629C>T	NM_017999.5	NP_060469.4:p.(Asp543=)	NC_000014.8:g.24620480C>T	(Likely) benign	1 lab	6f2d32794e
16:3293876 MEFV G>A	16	3293876	3293876	G	A	MEFV	c.1776C>T	NM_000243.2	NP_000234.1:p.(Gly592=)	NC_000016.9:g.3293876G>A	(Likely) benign	1 lab	6ee92bf75d
1:206567100 MISSING C>T	1	206567100	206567100	C	T	MISSING				NC_000001.10:g.206567100C>T	(Likely) benign	1 lab	6ee9945843
11:61541592 MYRF C>T	11	61541592	61541592	C	T	MYRF	c.1269C>T	NM_001127392.3	NP_001120864.1:p.(Leu423=)	NC_000011.9:g.61541592C>T	(Likely) benign	1 lab	6ef19896d6
7:147259357 CNTNAP2 T>C	7	147259357	147259357	T	C	CNTNAP2	c.1897+8T>C	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147259357T>C	(Likely) benign	1 lab	6efa2876f0
22:32229931 DEPDC5 C>T	22	32229931	32229931	C	T	DEPDC5	c.2135C>T	NM_001242896.3	NP_001229825.1:p.(Ser712Phe)	NC_000022.10:g.32229931C>T	(Likely) benign	1 lab	6f014a2e3a
15:93541934 CHD2 C>T	15	93541934	93541934	C	T	CHD2	c.4008+83C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93541934C>T	(Likely) benign	1 lab	6f0731801c
2:169783752 ABCB11 C>T	2	169783752	169783752	C	T	ABCB11	c.3532G>A	NM_003742.4	NP_003733.2:p.(Asp1178Asn)	NC_000002.11:g.169783752C>T	VUS	1 lab	6f0c2b146f
16:14680189 PARN T>G	16	14680189	14680189	T	G	PARN	c.948A>C	NM_002582.4	NP_002573.1:p.(Thr316=)	NC_000016.9:g.14680189T>G	(Likely) benign	1 lab	6f0e1fec73
2:168099775 XIRP2 C>G	2	168099775	168099775	C	G	XIRP2	c.1873C>G	NM_152381.6	NP_689594.4:p.(Pro625Ala)	NC_000002.11:g.168099775C>G	(Likely) benign	1 lab	6f0e4334b5
16:2550995 TBC1D24 G>T	16	2550995	2550995	G	T	TBC1D24	c.*36G>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2550995G>T	(Likely) benign	1 lab	6f103c3ad7
11:67257856 AIP C>T	11	67257856	67257856	C	T	AIP	c.715C>T	NM_003977.2	NP_003968.2:p.(Gln239Ter)	NC_000011.9:g.67257856C>T	(Likely) pathogenic	1 lab	6f10c6402b
16:1259337 CACNA1H C>T	16	1259337	1259337	C	T	CACNA1H	c.3669C>T	NM_021098.3	NP_066921.2:p.(Ala1223=)	NC_000016.9:g.1259337C>T	(Likely) benign	1 lab	6f14e57d9d
15:31206047 FAN1 T>G	15	31206047	31206047	T	G	FAN1	c.1578-14T>G	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31206047T>G	(Likely) benign	1 lab	6f1c301ce9
10:60573669 BICC1 G>A	10	60573669	60573669	G	A	BICC1	c.2456G>A	NM_001080512.3	NP_001073981.1:p.(Arg819Gln)	NC_000010.10:g.60573669G>A	(Likely) benign	1 lab	6f352848b2
3:81810702 GBE1 A>AGG	3	81810702	81810704	A	AGG	GBE1	c.-35dup	NM_000158.3	NP_000149.3:p.?	NC_000003.11:g.81810703_81810704dup	(Likely) benign	1 lab	6f38c99b41
15:54009034 WDR72 G>A	15	54009034	54009034	G	A	WDR72	c.261-152C>T	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.54009034G>A	(Likely) benign	1 lab	6f411e0975
2:166903385 SCN1A C>A	2	166903385	166903385	C	A	SCN1A	c.1272G>T	NM_001165963.3	NP_001159435.1:p.(Met424Ile)	NC_000002.11:g.166903385C>A	(Likely) pathogenic	1 lab	6f4a0a6c93
18:33837054 MOCOS G>A	18	33837054	33837054	G	A	MOCOS	c.2270+18G>A	NM_017947.4	NP_060417.4:p.?	NC_000018.9:g.33837054G>A	(Likely) benign	1 lab	6f4b465c5c
7:92762183 SAMD9L A>G	7	92762183	92762183	A	G	SAMD9L	c.3102T>C	NM_152703.5	NP_689916.2:p.(Asp1034=)	NC_000007.13:g.92762183A>G	(Likely) benign	1 lab	6f4bb1c324
6:31910938 C2 G>T	6	31910938	31910938	G	T	C2	c.1360+62G>T	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31910938G>T	(Likely) benign	1 lab	6f4d1287e5
2:110920830 NPHP1 G>A	2	110920830	110920830	G	A	NPHP1	c.940-118C>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110920830G>A	(Likely) benign	1 lab	6f4dcd8027
19:50162875 IRF3 G>A	19	50162875	50162875	G	A	IRF3	c.1330C>T	NM_001197122.2	NP_001184051.1:p.(Pro444Ser)	NC_000019.9:g.50162875G>A	(Likely) benign	1 lab	6f4f583f83
20:43610454 STK4 G>GTC	20	43610454	43610467	G	GTC	STK4	c.246-4_246-3dup	NM_006282.2	NP_006273.1:p.?	NC_000020.10:g.43610466_43610467dup	(Likely) benign	1 lab	6f50bbb53b
8:56981091 RPS20 T>TAAA	8	56981091	56981112	T	TAAA	RPS20	c.*36-5_*36-3dup	NM_001146227.2	NP_001139699.1:p.?	NC_000008.10:g.56981110_56981112dup	(Likely) benign	1 lab	6f53a33736
16:3294154 MEFV GTT>G	16	3294154	3294165	GTT	G	MEFV	c.1759+98_1759+99del	NM_000243.3	NP_000234.1:p.?	NC_000016.9:g.3294164_3294165del	(Likely) benign	1 lab	6f57947461
12:58197047 AVIL G>A	12	58197047	58197047	G	A	AVIL	c.1945C>T	NM_006576.3	NP_006567.3:p.(Leu649=)	NC_000012.11:g.58197047G>A	(Likely) benign	1 lab	6f58ed0d95
2:166866492 SCN1A A>T	2	166866492	166866492	A	T	SCN1A	c.3880-141T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166866492A>T	(Likely) benign	1 lab	6f598fe894
20:43280213 ADA C>T	20	43280213	43280213	C	T	ADA	c.33+3G>A	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43280213C>T	(Likely) benign	1 lab	73111cb8d0
1:114449776 DCLRE1B C>T	1	114449776	114449776	C	T	DCLRE1B	c.348C>T	NM_022836.4	NP_073747.1:p.(Leu116=)	NC_000001.10:g.114449776C>T	(Likely) benign	1 lab	6f5edc844b
13:52542563 ATP7B G>T	13	52542563	52542563	G	T	ATP7B	c.1707+17C>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542563G>T	VUS	1 lab	7333c39607
20:61978081 CHRNA4 G>A	20	61978081	61978081	G	A	CHRNA4	c.*9C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61978081G>A	(Likely) benign	1 lab	6f686183b6
17:73753534 ITGB4 C>T	17	73753534	73753534	C	T	ITGB4	c.5367C>T	NM_000213.5	NP_000204.3:p.(Gly1789=)	NC_000017.10:g.73753534C>T	(Likely) benign	1 lab	6f6c4c8bcf
22:17669142 ADA2 A>G	22	17669142	17669142	A	G	ADA2	c.1081+87T>C	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17669142A>G	(Likely) benign	1 lab	6f6c7d9c27
4:110667583 CFI T>C	4	110667583	110667583	T	C	CFI	c.1224A>G	NM_000204.3	NP_000195.2:p.(Val408=)	NC_000004.11:g.110667583T>C	(Likely) benign	1 lab	6f72050424
7:143048422 CLCN1 T>G	7	143048422	143048422	T	G	CLCN1	c.2596-265T>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143048422T>G	(Likely) benign	1 lab	6f72d6a7df
2:167129391 SCN9A T>A	2	167129391	167129391	T	A	SCN9A	c.2842-6A>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167129391T>A	(Likely) benign	1 lab	6f7372da9e
11:108202672 ATM GCAAA>G	11	108202672	108202678	GCAAA	G	ATM	c.7699_7702del	NM_000051.4	NP_000042.3:p.(Asn2567GlufsTer5)	NC_000011.9:g.108202675_108202678del	(Likely) pathogenic	1 lab	6f748f2ade
1:237054566 MTR C>T	1	237054566	237054566	C	T	MTR	c.3141C>T	NM_000254.2	NP_000245.2:p.(Tyr1047=)	NC_000001.10:g.237054566C>T	(Likely) benign	1 lab	6f790b4e95
2:20141610 WDR35 CA>C	2	20141610	20141619	CA	C	WDR35	c.1846-11del	NM_020779.4	NP_065830.2:p.?	NC_000002.11:g.20141619del	(Likely) benign	1 lab	6f7a539583
17:7462469 TNFSF13 C>T	17	7462469	7462469	C	T	TNFSF13	c.113C>T	NM_003808.3	NP_003799.1:p.(Ala38Val)	NC_000017.10:g.7462469C>T	(Likely) benign	1 lab	6f7e561eff
2:179482094 TTN C>T	2	179482094	179482094	C	T	TTN	c.20898G>A	NM_133432.3	NP_597676.3:p.(Trp6966Ter)	NC_000002.11:g.179482094C>T	(Likely) pathogenic	1 lab	6f80bce310
16:10995413 CIITA C>T	16	10995413	10995413	C	T	CIITA	c.479C>T	NM_000246.3	NP_000237.2:p.(Pro160Leu)	NC_000016.9:g.10995413C>T	(Likely) benign	1 lab	6f8b6c1fb7
22:37272064 NCF4 C>A	22	37272064	37272064	C	A	NCF4	c.997C>A	NM_013416.3	NP_038202.2:p.(Pro333Thr)	NC_000022.10:g.37272064C>A	(Likely) benign	1 lab	6f8bc44c09
2:113819725 IL36RN A>G	2	113819725	113819725	A	G	IL36RN	c.140A>G	NM_012275.2	NP_036407.1:p.(Asn47Ser)	NC_000002.11:g.113819725A>G	(Likely) benign	1 lab	6f90d5df8b
9:131669560 LRRC8A C>T	9	131669560	131669560	C	T	LRRC8A	c.117C>T	NM_019594.3	NP_062540.2:p.(Ala39=)	NC_000009.11:g.131669560C>T	(Likely) benign	1 lab	6f9618ab53
2:166911215 SCN1A A>T	2	166911215	166911215	A	T	SCN1A	c.535T>A	NM_001165963.3	NP_001159435.1:p.(Cys179Ser)	NC_000002.11:g.166911215A>T	(Likely) pathogenic	1 lab	6f9871bfc1
11:6630618 ILK A>G	11	6630618	6630618	A	G	ILK	c.707A>G	NM_001014795.3	NP_001014795.1:p.(Asn236Ser)	NC_000011.9:g.6630618A>G	(Likely) benign	1 lab	6fa3d581fa
20:50408493 SALL4 C>T	20	50408493	50408493	C	T	SALL4	c.529G>A	NM_020436.3	NP_065169.1:p.(Ala177Thr)	NC_000020.10:g.50408493C>T	(Likely) benign	1 lab	6fab00f817
3:9788915 BRPF1 T>TG	3	9788915	9788916	T	TG	BRPF1	c.3546dup	NM_001003694.2	NP_001003694.1:p.(Leu1183AlafsTer33)	NC_000003.11:g.9788916dup	VUS	1 lab	6fab046d6f
1:207532881 CD55 T>TTTA	1	207532881	207532882	T	TTTA	CD55	c.1082-10_1082-9insTTA	NM_000574.3	NP_000565.1:p.?	NC_000001.10:g.207532881_207532882insTTA	(Likely) benign	1 lab	6faef33a47
16:1266982 CACNA1H G>A	16	1266982	1266982	G	A	CACNA1H	c.5295G>A	NM_021098.3	NP_066921.2:p.(Ala1765=)	NC_000016.9:g.1266982G>A	(Likely) benign	1 lab	6fb4c8d682
9:130435539 STXBP1 A>C	9	130435539	130435539	A	C	STXBP1	c.1109A>C	NM_003165.6	NP_003156.1:p.(Gln370Pro)	NC_000009.11:g.130435539A>C	(Likely) pathogenic	1 lab	6fb51c4257
2:166892443 SCN1A G>GT	2	166892443	166892444	G	GT	SCN1A	c.3429+114dup	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166892444dup	(Likely) benign	1 lab	6fb79b560a
2:179426375 TTN T>C	2	179426375	179426375	T	C	TTN	c.57664A>G	NM_133432.3	NP_597676.3:p.(Lys19222Glu)	NC_000002.11:g.179426375T>C	VUS	1 lab	6fb9bb3227
2:131356311 CFC1 GCGGTGACTGT>G	2	131356311	131356326	GCGGTGACTGT	G	CFC1	c.141_150del	NM_032545.4	NP_115934.1:p.(Gln48SerfsTer11)	NC_000002.11:g.131356317_131356326del	VUS	1 lab	6fb9e124a8
5:76029257 F2R T>C	5	76029257	76029257	T	C	F2R	c.1207T>C	NM_001992.5	NP_001983.2:p.(Leu403=)	NC_000005.9:g.76029257T>C	(Likely) benign	1 lab	6fba578018
14:51224374 NIN T>G	14	51224374	51224374	T	G	NIN	c.3374A>C	NM_020921.4	NP_065972.4:p.(Gln1125Pro)	NC_000014.8:g.51224374T>G	(Likely) benign	1 lab	d127e75ca8
11:118899150 SLC37A4 T>C	11	118899150	118899150	T	C	SLC37A4	c.149-14A>G	NM_001164278.2	NP_001157750.1:p.?	NC_000011.9:g.118899150T>C	(Likely) benign	1 lab	6fbbc3f4af
8:145737619 RECQL4 C>T	8	145737619	145737619	C	T	RECQL4	c.3144G>A	NM_004260.3	NP_004251.3:p.(Lys1048=)	NC_000008.10:g.145737619C>T	(Likely) benign	1 lab	6fbde0bfb2
9:139396758 NOTCH1 G>A	9	139396758	139396758	G	A	NOTCH1	c.5350C>T	NM_017617.5	NP_060087.3:p.(Arg1784Trp)	NC_000009.11:g.139396758G>A	VUS	1 lab	d1293d8f2c
9:138644151 KCNT1 G>A	9	138644151	138644151	G	A	KCNT1	c.434+1264G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138644151G>A	(Likely) benign	1 lab	6fc1661d55
X:100615569 BTK G>A	X	100615569	100615569	G	A	BTK	c.763C>T	NM_000061.2	NP_000052.1:p.(Arg255Ter)	NC_000023.10:g.100615569G>A	(Likely) pathogenic	1 lab	6fc1ae783f
13:32930709 BRCA2 T>C	13	32930709	32930709	T	C	BRCA2	c.7580T>C	NM_000059.3	NP_000050.2:p.(Val2527Ala)	NC_000013.10:g.32930709T>C	VUS	1 lab	6fc3d52936
22:32230099 DEPDC5 C>T	22	32230099	32230099	C	T	DEPDC5	c.2170+133C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32230099C>T	(Likely) benign	1 lab	6fcacab53c
2:88409879 SMYD1 C>T	2	88409879	88409879	C	T	SMYD1	c.1321C>T	NM_198274.4	NP_938015.1:p.(Arg441Trp)	NC_000002.11:g.88409879C>T	(Likely) benign	1 lab	6fcb32d1a1
18:53252499 TCF4 G>T	18	53252499	53252499	G	T	TCF4	c.145+12C>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53252499G>T	(Likely) benign	1 lab	6fcc449b85
10:50680965 ERCC6 G>C	10	50680965	50680965	G	C	ERCC6	c.2819C>G	NM_000124.4	NP_000115.1:p.(Thr940Arg)	NC_000010.10:g.50680965G>C	VUS	1 lab	d12d88c982
X:100630201 BTK G>C	X	100630201	100630201	G	C	BTK	c.72C>G	NM_000061.2	NP_000052.1:p.(Asn24Lys)	NC_000023.10:g.100630201G>C	VUS	1 lab	6fd0c1b5b9
2:9658388 ADAM17 CAAA>C	2	9658388	9658410	CAAA	C	ADAM17	c.958-15_958-13del	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658408_9658410del	(Likely) benign	1 lab	6fd3cc578e
13:108862719 LIG4 C>T	13	108862719	108862719	C	T	LIG4	c.898G>A	NM_001352599.2	NP_001339528.1:p.(Asp300Asn)	NC_000013.10:g.108862719C>T	(Likely) benign	1 lab	6fdc2cd2d7
8:133186291 KCNQ3 T>C	8	133186291	133186291	T	C	KCNQ3	c.1044+195A>G	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133186291T>C	(Likely) benign	1 lab	6fdca2e05a
15:23891670 MAGEL2 G>A	15	23891670	23891670	G	A	MAGEL2	c.1220C>T	NM_019066.5	NP_061939.3:p.(Pro407Leu)	NC_000015.9:g.23891670G>A	(Likely) benign	1 lab	6fddac8761
11:64577167 MEN1 G>A	11	64577167	64577167	G	A	MEN1	c.415C>T	NM_000244.3	NP_000235.2:p.(His139Tyr)	NC_000011.9:g.64577167G>A	(Likely) pathogenic	1 lab	6fded9a032
20:60921255 LAMA5 G>A	20	60921255	60921255	G	A	LAMA5	c.1299C>T	NM_005560.4	NP_005551.3:p.(Ser433=)	NC_000020.10:g.60921255G>A	(Likely) benign	1 lab	6fe2c2cfb6
4:79321790 FRAS1 G>T	4	79321790	79321790	G	T	FRAS1	c.3976-98G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79321790G>T	(Likely) benign	1 lab	6fe3716abe
X:119678096 CUL4B G>A	X	119678096	119678096	G	A	CUL4B	c.1138-38C>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119678096G>A	(Likely) benign	1 lab	6fe5fab94d
X:151358192 GABRA3 T>C	X	151358192	151358192	T	C	GABRA3	c.1143+10A>G	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151358192T>C	(Likely) benign	1 lab	6fe89b29af
5:131714106 SLC22A5 C>T	5	131714106	131714106	C	T	SLC22A5	c.502C>T	NM_001308122.1	NP_001295051.1:p.(Leu168Phe)	NC_000005.9:g.131714106C>T	(Likely) benign	1 lab	6ff32baf1d
11:67809256 TCIRG1 G>C	11	67809256	67809256	G	C	TCIRG1				NC_000011.9:g.67809256G>C	(Likely) benign	1 lab	6ff7834d91
21:33031997 SOD1 T>C	21	33031997	33031997	T	C	SOD1	c.-86T>C	NM_000454.4	NP_000445.1:p.?	NC_000021.8:g.33031997T>C	(Likely) benign	1 lab	6ffc81e92a
12:23728729 SOX5 GT>G	12	23728729	23728730	GT	G	SOX5	c.1207del	NM_006940.6	NP_008871.3:p.(Thr403ProfsTer18)	NC_000012.11:g.23728730del	(Likely) pathogenic	1 lab	6fff273c6c
11:72005147 CLPB C>T	11	72005147	72005147	C	T	CLPB	c.1659G>A	NM_001258394.2	NP_001245323.1:p.(Thr553=)	NC_000011.9:g.72005147C>T	(Likely) benign	1 lab	7003122679
14:23885266 MYH7 G>A	14	23885266	23885266	G	A	MYH7	c.4900C>T	NM_000257.2	NP_000248.2:p.(Arg1634Cys)	NC_000014.8:g.23885266G>A	(Likely) pathogenic	1 lab	70037d84be
1:247599513 NLRP3 T>C	1	247599513	247599513	T	C	NLRP3	c.2663+71T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247599513T>C	(Likely) benign	1 lab	7004a4b907
4:4864876 MSX1 C>T	4	4864876	4864876	C	T	MSX1	c.*6C>T	NM_002448.3	NP_002439.2:p.?	NC_000004.11:g.4864876C>T	(Likely) benign	1 lab	7004d068bb
2:179669362 TTN G>T	2	179669362	179669362	G	T	TTN	c.8C>A	NM_001267550.2	NP_001254479.2:p.(Thr3Asn)	NC_000002.11:g.179669362G>T	VUS	1 lab	d1303eadef
1:207956539 CD46 G>GA	1	207956539	207956547	G	GA	CD46	c.989-90dup	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207956547dup	(Likely) benign	1 lab	700b0f4d32
5:89918232 ADGRV1 C>A	5	89918232	89918232	C	A	ADGRV1	c.454-182C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89918232C>A	(Likely) benign	1 lab	701609ad2d
14:23862354 MYH6 G>A	14	23862354	23862354	G	A	MYH6	c.3106-88C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23862354G>A	(Likely) benign	1 lab	70166df634
15:93563640 CHD2 A>T	15	93563640	93563640	A	T	CHD2	c.5153+152A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563640A>T	(Likely) benign	1 lab	7016c5df86
15:86278315 AKAP13 G>A	15	86278315	86278315	G	A	AKAP13	c.7387G>A	NM_006738.6	NP_006729.4:p.(Val2463Ile)	NC_000015.9:g.86278315G>A	(Likely) benign	1 lab	701b393894
13:35716475 NBEA A>C	13	35716475	35716475	A	C	NBEA	c.2406A>C	NM_015678.4	NP_056493.3:p.(Thr802=)	NC_000013.10:g.35716475A>C	(Likely) benign	1 lab	702d28f50b
3:39227174 XIRP1 G>A	3	39227174	39227174	G	A	XIRP1	c.3763C>T	NM_194293.4	NP_919269.2:p.(Pro1255Ser)	NC_000003.11:g.39227174G>A	(Likely) benign	1 lab	702d730b62
20:60897158 LAMA5 C>A	20	60897158	60897158	C	A	LAMA5	c.6413G>T	NM_005560.4	NP_005551.3:p.(Ser2138Ile)	NC_000020.10:g.60897158C>A	(Likely) benign	1 lab	702e864f0e
11:68678888 IGHMBP2 C>T	11	68678888	68678888	C	T	IGHMBP2	c.548-20C>T	NM_002180.2	NP_002171.2:p.?	NC_000011.9:g.68678888C>T	(Likely) benign	1 lab	70490b8aef
7:36492159 ANLN A>G	7	36492159	36492159	A	G	ANLN	c.3325A>G	NM_018685.5	NP_061155.2:p.(Ile1109Val)	NC_000007.13:g.36492159A>G	(Likely) benign	1 lab	7039a1764a
1:228526742 OBSCN CCA>C	1	228526742	228526777	CCA	C	OBSCN	c.20129+49_20129+50del	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228526776_228526777del	(Likely) benign	1 lab	703a17b0de
1:43907930 SZT2 A>C	1	43907930	43907930	A	C	SZT2	c.7703-9A>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43907930A>C	(Likely) benign	1 lab	703a462a29
5:94839651 SKIC3 T>C	5	94839651	94839651	T	C	SKIC3	c.3093-9A>G	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94839651T>C	(Likely) benign	1 lab	703aeb6683
10:124924402 BUB3 C>T	10	124924402	124924402	C	T	BUB3	c.*1051C>T	NM_004725.3	NP_004716.1:p.?	NC_000010.10:g.124924402C>T	(Likely) benign	1 lab	703bc01f73
1:43906111 SZT2 C>G	1	43906111	43906111	C	G	SZT2	c.7040-13C>G	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43906111C>G	(Likely) benign	1 lab	703d1bdf5d
1:158619822 SPTA1 A>C	1	158619822	158619822	A	C	SPTA1	c.3478-85T>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158619822A>C	(Likely) benign	1 lab	703e218ef5
17:4904113 KIF1C C>T	17	4904113	4904113	C	T	KIF1C	c.153C>T	NM_006612.6	NP_006603.2:p.(Thr51=)	NC_000017.10:g.4904113C>T	(Likely) benign	1 lab	70472e1952
10:43598049 RET C>T	10	43598049	43598049	C	T	RET	c.597C>T	NM_020975.4	NP_066124.1:p.(Asn199=)	NC_000010.10:g.43598049C>T	(Likely) benign	1 lab	7049b459d2
1:237947180 RYR2 G>A	1	237947180	237947180	G	A	RYR2	c.12168G>A	NM_001035.3	NP_001026.2:p.(Lys4056=)	NC_000001.10:g.237947180G>A	(Likely) benign	1 lab	704abe87ae
2:219941939 NHEJ1 C>T	2	219941939	219941939	C	T	NHEJ1	c.825+29G>A	NM_024782.2	NP_079058.1:p.?	NC_000002.11:g.219941939C>T	(Likely) benign	1 lab	704de15b92
4:5747079 EVC G>T	4	5747079	5747079	G	T	EVC	c.939+11G>T	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5747079G>T	(Likely) benign	1 lab	7051484e41
3:164764736 SI A>G	3	164764736	164764736	A	G	SI	c.1780T>C	NM_001041.4	NP_001032.2:p.(Ser594Pro)	NC_000003.11:g.164764736A>G	(Likely) pathogenic	1 lab	7054bce286
3:14174115 TMEM43 C>T	3	14174115	14174115	C	T	TMEM43	c.442+20C>T	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14174115C>T	(Likely) benign	1 lab	70562cfd75
19:4817288 TICAM1 A>AAGG	19	4817288	4817312	A	AAGG	TICAM1	c.1099_1101dup	NM_182919.3	NP_891549.1:p.(Pro367dup)	NC_000019.9:g.4817310_4817312dup	(Likely) benign	1 lab	705b87992b
16:2550240 TBC1D24 C>T	16	2550240	2550240	C	T	TBC1D24	c.1303-29C>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2550240C>T	(Likely) benign	1 lab	705bc10b21
16:9857663 GRIN2A A>G	16	9857663	9857663	A	G	GRIN2A	c.3738T>C	NM_000833.5	NP_000824.1:p.(Tyr1246=)	NC_000016.9:g.9857663A>G	(Likely) benign	1 lab	705bccdf56
19:2110166 AP3D1 T>C	19	2110166	2110166	T	C	AP3D1	c.3233A>G	NM_001261826.3	NP_001248755.1:p.(Lys1078Arg)	NC_000019.9:g.2110166T>C	(Likely) benign	1 lab	705f72cbf4
13:52520574 ATP7B C>T	13	52520574	52520574	C	T	ATP7B	c.2906G>A	NM_000053.4	NP_000044.2:p.(Arg969Gln)	NC_000013.10:g.52520574C>T	(Likely) pathogenic	1 lab	7061bc5aa8
8:1728557 CLN8 C>G	8	1728557	1728557	C	G	CLN8	c.685C>G	NM_018941.3	NP_061764.2:p.(Pro229Ala)	NC_000008.10:g.1728557C>G	(Likely) benign	1 lab	706573df74
20:62319277 RTEL1 T>C	20	62319277	62319277	T	C	RTEL1	c.813-13T>C	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62319277T>C	(Likely) benign	1 lab	706c9f5542
X:48549486 WAS C>A	X	48549486	48549486	C	A	WAS	c.1454-12C>A	NM_000377.2	NP_000368.1:p.?	NC_000023.10:g.48549486C>A	(Likely) benign	1 lab	706e8a8f2d
13:39358841 FREM2 A>G	13	39358841	39358841	A	G	FREM2	c.5915A>G	NM_207361.6	NP_997244.4:p.(Glu1972Gly)	NC_000013.10:g.39358841A>G	(Likely) pathogenic	1 lab	d13d36c3fb
20:47886648 ZNFX1 A>G	20	47886648	47886648	A	G	ZNFX1	c.1701T>C	NM_021035.3	NP_066363.1:p.(Thr567=)	NC_000020.10:g.47886648A>G	(Likely) benign	1 lab	7075f468db
1:12067044 MFN2 T>G	1	12067044	12067044	T	G	MFN2	c.1873-66T>G	NM_014874.3	NP_055689.1:p.?	NC_000001.10:g.12067044T>G	(Likely) benign	1 lab	70792b9174
12:112893878 PTPN11 A>G	12	112893878	112893878	A	G	PTPN11	c.756+11A>G	NM_002834.3	NP_002825.3:p.?	NC_000012.11:g.112893878A>G	(Likely) benign	1 lab	707b1c58dc
2:227924733 COL4A4 T>C	2	227924733	227924733	T	C	COL4A4	c.2164+119A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924733T>C	(Likely) benign	1 lab	707d0af59c
12:56081971 ITGA7 A>G	12	56081971	56081971	A	G	ITGA7	c.3069+15T>C	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56081971A>G	(Likely) benign	1 lab	707d82e04b
2:227920837 COL4A4 A>G	2	227920837	227920837	A	G	COL4A4	c.2546-6T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227920837A>G	(Likely) benign	1 lab	7081f9faa5
10:15701025 ITGA8 C>T	10	15701025	15701025	C	T	ITGA8	c.921G>A	NM_003638.3	NP_003629.2:p.(Thr307=)	NC_000010.10:g.15701025C>T	(Likely) benign	1 lab	708391df34
1:237819183 RYR2 G>A	1	237819183	237819183	G	A	RYR2	c.8028G>A	NM_001035.3	NP_001026.2:p.(Leu2676=)	NC_000001.10:g.237819183G>A	(Likely) benign	1 lab	70857538fc
22:29091723 CHEK2 T>G	22	29091723	29091723	T	G	CHEK2	c.1234A>C	NM_007194.4	NP_009125.1:p.(Ser412Arg)	NC_000022.10:g.29091723T>G	(Likely) pathogenic	1 lab	7095f21cb3
4:187540570 FAT1 A>G	4	187540570	187540570	A	G	FAT1	c.7170T>C	NM_005245.4	NP_005236.2:p.(Phe2390=)	NC_000004.11:g.187540570A>G	(Likely) benign	1 lab	709629eb40
15:29561064 NSMCE3 G>A	15	29561064	29561064	G	A	NSMCE3	c.846C>T	NM_138704.4	NP_619649.1:p.(Tyr282=)	NC_000015.9:g.29561064G>A	(Likely) benign	1 lab	70993b83c2
1:160260414 COPA G>A	1	160260414	160260414	G	A	COPA	c.3483C>T	NM_004371.4	NP_004362.2:p.(Asp1161=)	NC_000001.10:g.160260414G>A	(Likely) benign	1 lab	7099890f76
14:102454115 DYNC1H1 A>G	14	102454115	102454115	A	G	DYNC1H1	c.2718+146A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102454115A>G	(Likely) benign	1 lab	709c45afca
X:99663180 PCDH19 G>T	X	99663180	99663180	G	T	PCDH19	c.416C>A	NM_001184880.2	NP_001171809.1:p.(Ser139Ter)	NC_000023.10:g.99663180G>T	(Likely) pathogenic	1 lab	70a2a028a5
11:64575550 MEN1 C>T	11	64575550	64575550	C	T	MEN1	c.482G>A	NM_130803.2	NP_570715.1:p.(Gly161Asp)	NC_000011.9:g.64575550C>T	(Likely) pathogenic	1 lab	70a56d315c
8:41575134 ANK1 G>A	8	41575134	41575134	G	A	ANK1	c.1293C>T	NM_000037.4	NP_000028.3:p.(Asn431=)	NC_000008.10:g.41575134G>A	(Likely) benign	1 lab	70a57776c6
1:207643458 CR2 C>T	1	207643458	207643458	C	T	CR2	c.1225+11C>T	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207643458C>T	(Likely) benign	1 lab	70a8e0cf63
2:216235242 FN1 T>G	2	216235242	216235242	T	G	FN1	c.6715-87A>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216235242T>G	(Likely) benign	1 lab	70ad54d826
1:27699739 FCN3 C>T	1	27699739	27699739	C	T	FCN3	c.281G>A	NM_003665.2	NP_003656.2:p.(Arg94Gln)	NC_000001.10:g.27699739C>T	(Likely) benign	1 lab	70ae0d1734
1:247597656 NLRP3 TG>T	1	247597656	247597660	TG	T	NLRP3	c.2492+85del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597660del	(Likely) benign	1 lab	70cb7c49e5
12:2229586 CACNA1C A>G	12	2229586	2229586	A	G	CACNA1C	c.467A>G	NM_199460.4	NP_955630.3:p.(Asn156Ser)	NC_000012.11:g.2229586A>G	VUS	1 lab	d13fbd4056
4:79328947 FRAS1 G>A	4	79328947	79328947	G	A	FRAS1	c.4260G>A	NM_025074.7	NP_079350.5:p.(Trp1420Ter)	NC_000004.11:g.79328947G>A	(Likely) pathogenic	1 lab	70b2283d01
6:52333974 EFHC1 A>T	6	52333974	52333974	A	T	EFHC1	c.1138-157A>T	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52333974A>T	(Likely) benign	1 lab	70b4a23f37
17:61574215 ACE C>T	17	61574215	61574215	C	T	ACE	c.3560C>T	NM_000789.4	NP_000780.1:p.(Thr1187Met)	NC_000017.10:g.61574215C>T	(Likely) benign	1 lab	70ba0bf7e4
6:135774515 AHI1 T>C	6	135774515	135774515	T	C	AHI1	c.1404A>G	NM_017651.4	NP_060121.3:p.(Glu468=)	NC_000006.11:g.135774515T>C	(Likely) benign	1 lab	70ba73285c
1:169437392 SLC19A2 A>G	1	169437392	169437392	A	G	SLC19A2	c.1322T>C	NM_006996.3	NP_008927.1:p.(Ile441Thr)	NC_000001.10:g.169437392A>G	(Likely) benign	1 lab	70bab3a942
3:142281197 ATR T>C	3	142281197	142281197	T	C	ATR	c.1047A>G	NM_001184.4	NP_001175.2:p.(Leu349=)	NC_000003.11:g.142281197T>C	(Likely) benign	1 lab	70bec84e5c
1:161476272 FCGR2A C>A	1	161476272	161476272	C	A	FCGR2A	c.252C>A	NM_021642.5	NP_067674.2:p.(His84Gln)	NC_000001.10:g.161476272C>A	(Likely) benign	1 lab	70c11b9f86
1:43892864 SZT2 A>G	1	43892864	43892864	A	G	SZT2	c.3262+14A>G	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43892864A>G	(Likely) benign	1 lab	70c2e4372f
11:64575492 MEN1 G>A	11	64575492	64575492	G	A	MEN1	c.540C>T	NM_130803.2	NP_570715.1:p.(Leu180=)	NC_000011.9:g.64575492G>A	VUS	1 lab	70c4b95611
3:47040487 NBEAL2 C>T	3	47040487	47040487	C	T	NBEAL2	c.3423C>T	NM_015175.2	NP_055990.1:p.(His1141=)	NC_000003.11:g.47040487C>T	(Likely) benign	1 lab	70c4c28e0c
21:36231792 RUNX1 C>A	21	36231792	36231792	C	A	RUNX1	c.511G>T	NM_001001890.3	NP_001001890.1:p.(Asp171Tyr)	NC_000021.8:g.36231792C>A	VUS	1 lab	70c908517f
2:179522263 TTN G>A	2	179522263	179522263	G	A	TTN	c.38000C>T	NM_001267550.1	NP_001254479.1:p.(Ser12667Leu)	NC_000002.11:g.179522263G>A	(Likely) benign	1 lab	70ca3d9055
X:154159132 F8 G>T	X	154159132	154159132	G	T	F8	c.2933C>A	NM_000132.3	NP_000123.1:p.(Ser978Ter)	NC_000023.10:g.154159132G>T	(Likely) pathogenic	1 lab	70ce8732bb
4:186427822 PDLIM3 G>A	4	186427822	186427822	G	A	PDLIM3	c.663-16C>T	NM_014476.6	NP_055291.2:p.?	NC_000004.11:g.186427822G>A	(Likely) benign	1 lab	70cfa22322
12:98926934 TMPO A>G	12	98926934	98926934	A	G	TMPO	c.899A>G	NM_003276.2	NP_003267.1:p.(His300Arg)	NC_000012.11:g.98926934A>G	(Likely) benign	1 lab	70d10d45fe
10:21117444 NEBL G>C	10	21117444	21117444	G	C	NEBL	c.1776+15C>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21117444G>C	(Likely) benign	1 lab	70d1a661aa
4:79440650 FRAS1 G>A	4	79440650	79440650	G	A	FRAS1	c.10540+15G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79440650G>A	(Likely) benign	1 lab	70d2518744
10:54531235 MBL2 C>T	10	54531235	54531235	C	T	MBL2	c.161G>A	NM_000242.2	NP_000233.1:p.(Gly54Asp)	NC_000010.10:g.54531235C>T	(Likely) benign	1 lab	70d2c3c0a0
16:2141520 PKD1 C>T	16	2141520	2141520	C	T	PKD1	c.11616G>A	NM_001009944.2	NP_001009944.2:p.(Glu3872=)	NC_000016.9:g.2141520C>T	(Likely) benign	1 lab	70d76598ae
2:179585775 TTN C>T	2	179585775	179585775	C	T	TTN	c.22971G>A	NM_001267550.2	NP_001254479.2:p.(Met7657Ile)	NC_000002.11:g.179585775C>T	VUS	1 lab	d14257c1a8
1:209791956 LAMB3 A>G	1	209791956	209791956	A	G	LAMB3	c.2750T>C	NM_001017402.2	NP_001017402.1:p.(Leu917Pro)	NC_000001.10:g.209791956A>G	VUS	1 lab	d14335bd11
14:23243186 SLC7A7 C>CTGA	14	23243186	23243195	C	CTGA	SLC7A7	c.1382_1384dup	NM_001126106.4	NP_001119578.1:p.(Ile461dup)	NC_000014.8:g.23243193_23243195dup	VUS	1 lab	d149243db8
1:228493096 OBSCN C>T	1	228493096	228493096	C	T	OBSCN	c.14530+9C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228493096C>T	(Likely) benign	1 lab	70e2f1c1c2
1:120539916 NOTCH2 G>A	1	120539916	120539916	G	A	NOTCH2	c.455C>T	NM_024408.4	NP_077719.2:p.(Pro152Leu)	NC_000001.10:g.120539916G>A	VUS	1 lab	70e45ce8e6
12:88519022 CEP290 C>T	12	88519022	88519022	C	T	CEP290	c.1189+1G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88519022C>T	(Likely) pathogenic	1 lab	70e572937c
7:91729174 AKAP9 T>C	7	91729174	91729174	T	C	AKAP9	c.10887T>C	NM_005751.4	NP_005742.4:p.(Gly3629=)	NC_000007.13:g.91729174T>C	(Likely) benign	1 lab	70e779b0a5
15:93563164 CHD2 CA>C	15	93563164	93563177	CA	C	CHD2	c.4907-65del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563177del	(Likely) benign	1 lab	70f28ae717
4:79254474 FRAS1 G>T	4	79254474	79254474	G	T	FRAS1	c.2186G>T	NM_025074.7	NP_079350.5:p.(Cys729Phe)	NC_000004.11:g.79254474G>T	VUS	1 lab	70f36afb7c
15:25615744 UBE3A C>T	15	25615744	25615744	C	T	UBE3A	c.1586G>A	NM_000462.5	NP_000453.2:p.(Arg529His)	NC_000015.9:g.25615744C>T	(Likely) pathogenic	1 lab	70f3a6470a
17:61554487 ACE GGCTGCT>G	17	61554487	61554498	GGCTGCT	G	ACE	c.38_43del	NM_000789.4	NP_000780.1:p.(Leu13_Leu14del)	NC_000017.10:g.61554493_61554498del	(Likely) pathogenic	1 lab	70f506544c
19:19221555 SLC25A42 G>A	19	19221555	19221555	G	A	SLC25A42	c.827G>A	NM_178526.5	NP_848621.2:p.(Arg276Gln)	NC_000019.9:g.19221555G>A	VUS	1 lab	d14f695d52
17:73723553 ITGB4 C>T	17	73723553	73723553	C	T	ITGB4	c.231C>T	NM_000213.5	NP_000204.3:p.(Ile77=)	NC_000017.10:g.73723553C>T	(Likely) benign	1 lab	70fc5e2df3
X:49108220 FOXP3 G>A	X	49108220	49108220	G	A	FOXP3	c.1051C>T	NM_014009.3	NP_054728.2:p.(Leu351=)	NC_000023.10:g.49108220G>A	(Likely) benign	1 lab	71023341e8
19:48640958 LIG1 G>A	19	48640958	48640958	G	A	LIG1	c.1088-13C>T	NM_000234.1	NP_000225.1:p.?	NC_000019.9:g.48640958G>A	(Likely) benign	1 lab	710235899e
9:138675926 KCNT1 C>T	9	138675926	138675926	C	T	KCNT1	c.2898C>T	NM_020822.2	NP_065873.2:p.(Ala966=)	NC_000009.11:g.138675926C>T	(Likely) benign	1 lab	71059ac13c
19:38949791 RYR1 G>A	19	38949791	38949791	G	A	RYR1	c.2173G>A	NM_000540.3	NP_000531.2:p.(Val725Met)	NC_000019.9:g.38949791G>A	VUS	1 lab	d1534eb221
12:110034317 MVK G>A	12	110034317	110034317	G	A	MVK	c.1126G>A	NM_000431.2	NP_000422.1:p.(Gly376Ser)	NC_000012.11:g.110034317G>A	(Likely) pathogenic	1 lab	7106d41297
7:100319680 EPO C>CT	7	100319680	100319695	C	CT	EPO	c.246+24dup	NM_000799.4	NP_000790.2:p.?	NC_000007.13:g.100319695dup	(Likely) benign	1 lab	710b9e9667
13:110895011 COL4A1 C>T	13	110895011	110895011	C	T	COL4A1	c.144+11G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110895011C>T	(Likely) benign	1 lab	710c37ba1f
16:3296478 MEFV T>A	16	3296478	3296478	T	A	MEFV	c.1610+47A>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296478T>A	(Likely) benign	1 lab	710c94f7fa
20:61980994 CHRNA4 G>T	20	61980994	61980994	G	T	CHRNA4	c.1758+11C>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61980994G>T	(Likely) benign	1 lab	72a933f4af
9:130581107 ENG T>G	9	130581107	130581107	T	G	ENG	c.1316A>C	NM_000118.3	NP_000109.1:p.(Lys439Thr)	NC_000009.11:g.130581107T>G	VUS	1 lab	71178378eb
15:93563612 CHD2 C>G	15	93563612	93563612	C	G	CHD2	c.5153+124C>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563612C>G	(Likely) benign	1 lab	7118d049c2
4:106155291 TET2 C>T	4	106155291	106155291	C	T	TET2	c.192C>T	NM_001127208.2	NP_001120680.1:p.(Pro64=)	NC_000004.11:g.106155291C>T	(Likely) benign	1 lab	71195d47e4
20:8862429 PLCB1 A>G	20	8862429	8862429	A	G	PLCB1	c.3584A>G	NM_015192.4	NP_056007.1:p.(His1195Arg)	NC_000020.10:g.8862429A>G	(Likely) benign	1 lab	7120c084ef
2:61244904 PEX13 C>T	2	61244904	61244904	C	T	PEX13	c.10C>T	NM_002618.4	NP_002609.1:p.(Gln4Ter)	NC_000002.11:g.61244904C>T	(Likely) pathogenic	1 lab	7122d7dc5e
1:228509527 OBSCN C>T	1	228509527	228509527	C	T	OBSCN	c.17856C>T	NM_001271223.2	NP_001258152.2:p.(Ala5952=)	NC_000001.10:g.228509527C>T	(Likely) benign	1 lab	712fb2d854
12:6442674 TNFRSF1A G>T	12	6442674	6442674	G	T	TNFRSF1A	c.331C>A	NM_001065.3	NP_001056.1:p.(Gln111Lys)	NC_000012.11:g.6442674G>T	VUS	1 lab	713261a487
6:3104540 RIPK1 T>A	6	3104540	3104540	T	A	RIPK1	c.997T>A	NM_003804.6	NP_003795.2:p.(Ser333Thr)	NC_000006.11:g.3104540T>A	(Likely) benign	1 lab	713341022d
22:51065026 ARSA C>A	22	51065026	51065026	C	A	ARSA	c.847G>T	NM_000487.6	NP_000478.3:p.(Asp283Tyr)	NC_000022.10:g.51065026C>A	(Likely) pathogenic	1 lab	7133895696
1:207943722 CD46 T>C	1	207943722	207943722	T	C	CD46	c.988+15T>C	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207943722T>C	(Likely) benign	1 lab	713626d4d7
22:29885936 NEFH A>C	22	29885936	29885936	A	C	NEFH	c.2307A>C	NM_021076.4	NP_066554.2:p.(Pro769=)	NC_000022.10:g.29885936A>C	(Likely) benign	1 lab	7139125294
17:41228460 BRCA1 T>A	17	41228460	41228460	T	A	BRCA1	c.4484+45A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228460T>A	(Likely) benign	1 lab	71392c3cf6
1:243480036 SDCCAG8 A>G	1	243480036	243480036	A	G	SDCCAG8	c.930-21A>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243480036A>G	(Likely) benign	1 lab	71405fae89
10:73887886 ASCC1 T>C	10	73887886	73887886	T	C	ASCC1	c.977A>G	NM_001369085.1	NP_001356014.1:p.(Tyr326Cys)	NC_000010.10:g.73887886T>C	(Likely) benign	1 lab	714091599d
X:110406780 PAK3 G>GT	X	110406780	110406787	G	GT	PAK3	c.601-3dup	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110406787dup	(Likely) benign	1 lab	71425c8122
5:137216527 MYOT G>A	5	137216527	137216527	G	A	MYOT	c.656G>A	NM_006790.2	NP_006781.1:p.(Arg219Gln)	NC_000005.9:g.137216527G>A	(Likely) benign	1 lab	714271d827
2:74274242 TET3 T>TA	2	74274242	74274243	T	TA	TET3	c.1199dup	NM_001287491.2	NP_001274420.1:p.(Tyr400Ter)	NC_000002.11:g.74274243dup	(Likely) pathogenic	1 lab	7142edc9cb
14:37132277 PAX9 C>A	14	37132277	37132277	C	A	PAX9	c.180C>A	NM_006194.3	NP_006185.1:p.(Tyr60Ter)	NC_000014.8:g.37132277C>A	(Likely) pathogenic	1 lab	7145930813
4:155510142 FGA G>A	4	155510142	155510142	G	A	FGA	c.181-14C>T	NM_000508.3	NP_000499.1:p.?	NC_000004.11:g.155510142G>A	(Likely) benign	1 lab	7145d5b6f7
21:35186290 ITSN1 G>A	21	35186290	35186290	G	A	ITSN1	c.2641G>A	NM_003024.3	NP_003015.2:p.(Val881Ile)	NC_000021.8:g.35186290G>A	(Likely) benign	1 lab	71489b423f
4:79096511 FRAS1 GCA>G	4	79096511	79096513	GCA	G	FRAS1	c.109-62152_109-62151del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79096512_79096513del	(Likely) benign	1 lab	d1572d6a7c
16:67690688 CARMIL2 C>T	16	67690688	67690688	C	T	CARMIL2	c.4037-16C>T	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67690688C>T	(Likely) benign	1 lab	7156a8cbe0
20:62324323 RTEL1 G>A	20	62324323	62324323	G	A	RTEL1	c.2149G>A	NM_001283010.1	NP_001269939.1:p.(Ala717Thr)	NC_000020.10:g.62324323G>A	(Likely) benign	1 lab	71589aee30
1:158047816 KIRREL1 G>A	1	158047816	158047816	G	A	KIRREL1	c.238G>A	NM_018240.7	NP_060710.3:p.(Ala80Thr)	NC_000001.10:g.158047816G>A	(Likely) benign	1 lab	715a8ef1a3
1:158637865 SPTA1 G>GA	1	158637865	158637881	G	GA	SPTA1	c.1834-14dup	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158637881dup	(Likely) benign	1 lab	715e004b14
X:77150908 MAGT1 G>A	X	77150908	77150908	G	A	MAGT1	c.96C>T	NM_032121.5	NP_115497.4:p.(Asn32=)	NC_000023.10:g.77150908G>A	(Likely) benign	1 lab	d1573d9823
5:90040706 ADGRV1 C>T	5	90040706	90040706	C	T	ADGRV1	c.10550-157C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90040706C>T	(Likely) benign	1 lab	716d296bb2
4:103517477 NFKB1 G>T	4	103517477	103517477	G	T	NFKB1	c.1483G>T	NM_003998.4	NP_003989.2:p.(Ala495Ser)	NC_000004.11:g.103517477G>T	(Likely) benign	1 lab	716dfbac4b
1:57341799 C8A G>A	1	57341799	57341799	G	A	C8A	c.381G>A	NM_000562.2	NP_000553.1:p.(Glu127=)	NC_000001.10:g.57341799G>A	(Likely) benign	1 lab	717046299c
13:32930543 BRCA2 C>A	13	32930543	32930543	C	A	BRCA2	c.7436-22C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930543C>A	(Likely) benign	1 lab	717164f2b5
9:14841530 FREM1 C>T	9	14841530	14841530	C	T	FREM1	c.1796G>A	NM_144966.5	NP_659403.4:p.(Arg599His)	NC_000009.11:g.14841530C>T	(Likely) benign	1 lab	7174756942
16:3299708 MEFV A>G	16	3299708	3299708	A	G	MEFV	c.983T>C	NM_000243.2	NP_000234.1:p.(Val328Ala)	NC_000016.9:g.3299708A>G	VUS	1 lab	717dd6466f
7:147844575 CNTNAP2 T>C	7	147844575	147844575	T	C	CNTNAP2	c.2555-8T>C	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147844575T>C	(Likely) benign	1 lab	717fedcac3
1:26128307 SELENON C>T	1	26128307	26128307	C	T	SELENON	c.302-200C>T	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26128307C>T	(Likely) benign	1 lab	7181ef5f86
X:54496565 FGD1 G>A	X	54496565	54496565	G	A	FGD1	c.985C>T	NM_004463.3	NP_004454.2:p.(Arg329Trp)	NC_000023.10:g.54496565G>A	(Likely) benign	1 lab	71860250a0
5:156186299 SGCD G>A	5	156186299	156186299	G	A	SGCD	c.771G>A	NM_000337.5	NP_000328.2:p.(Arg257=)	NC_000005.9:g.156186299G>A	(Likely) benign	1 lab	7188a515a3
9:101125128 GABBR2 C>T	9	101125128	101125128	C	T	GABBR2	c.1771-9G>A	NM_005458.8	NP_005449.5:p.?	NC_000009.11:g.101125128C>T	(Likely) benign	1 lab	718cf877a6
10:8115668 GATA3 TA>T	10	8115668	8115686	TA	T	GATA3	c.1051-16del	NM_001002295.2	NP_001002295.1:p.?	NC_000010.10:g.8115686del	(Likely) benign	1 lab	d157bb31a3
7:50358630 IKZF1 C>T	7	50358630	50358630	C	T	IKZF1	c.-14-14C>T	NM_006060.6	NP_006051.1:p.?	NC_000007.13:g.50358630C>T	(Likely) benign	1 lab	7193426432
20:60888315 LAMA5 C>T	20	60888315	60888315	C	T	LAMA5	c.8793-9G>A	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60888315C>T	(Likely) benign	1 lab	7193443f3f
X:135772776 ARHGEF6 T>G	X	135772776	135772776	T	G	ARHGEF6	c.1178A>C	NM_004840.3	NP_004831.1:p.(His393Pro)	NC_000023.10:g.135772776T>G	VUS	1 lab	d15803b94c
10:95557512 LGI1 G>A	10	95557512	95557512	G	A	LGI1	c.1626G>A	NM_005097.3	NP_005088.1:p.(Lys542=)	NC_000010.10:g.95557512G>A	VUS	1 lab	71993db137
16:31201734 FUS A>AT	16	31201734	31201741	A	AT	FUS	c.1292+22dup	NM_004960.3	NP_004951.1:p.?	NC_000016.9:g.31201741dup	(Likely) benign	1 lab	719ca56376
9:141014730 CACNA1B G>A	9	141014730	141014730	G	A	CACNA1B	c.6144G>A	NM_000718.4	NP_000709.1:p.(Ser2048=)	NC_000009.11:g.141014730G>A	(Likely) benign	1 lab	719cbff218
16:3299540 MEFV A>G	16	3299540	3299540	A	G	MEFV	c.1151T>C	NM_000243.2	NP_000234.1:p.(Leu384Pro)	NC_000016.9:g.3299540A>G	VUS	1 lab	74baef4eb3
9:710915 KANK1 A>T	9	710915	710915	A	T	KANK1	c.149A>T	NM_015158.4	NP_055973.2:p.(Asp50Val)	NC_000009.11:g.710915A>T	(Likely) benign	1 lab	71a156ac3b
9:137676816 COL5A1 C>T	9	137676816	137676816	C	T	COL5A1	c.2485-19C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137676816C>T	(Likely) benign	1 lab	71a2792e26
1:158597742 SPTA1 T>C	1	158597742	158597742	T	C	SPTA1	c.5566-229A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158597742T>C	(Likely) benign	1 lab	71abebc8c4
5:37196028 CPLANE1 C>T	5	37196028	37196028	C	T	CPLANE1	c.3743G>A	NM_023073.3	NP_075561.3:p.(Gly1248Asp)	NC_000005.9:g.37196028C>T	(Likely) benign	1 lab	71b513a575
1:57340727 C8A C>A	1	57340727	57340727	C	A	C8A	c.277C>A	NM_000562.3	NP_000553.1:p.(Gln93Lys)	NC_000001.10:g.57340727C>A	(Likely) benign	1 lab	d1584b95d6
7:128492795 FLNC A>G	7	128492795	128492795	A	G	FLNC	c.5993A>G	NM_001458.4	NP_001449.3:p.(Asn1998Ser)	NC_000007.13:g.128492795A>G	VUS	1 lab	71bbe16552
5:41143060 C6 C>A	5	41143060	41143060	C	A	C6	c.2672G>T	NM_000065.2	NP_000056.2:p.(Gly891Val)	NC_000005.9:g.41143060C>A	(Likely) benign	1 lab	71c484e1bd
11:5246870 HBB C>G	11	5246870	5246870	C	G	HBB	c.402G>C	NM_000518.5	NP_000509.1:p.(Val134=)	NC_000011.9:g.5246870C>G	(Likely) benign	1 lab	71c8c10613
4:6602402 MAN2B2 G>A	4	6602402	6602402	G	A	MAN2B2	c.1458G>A	NM_015274.3	NP_056089.1:p.(Thr486=)	NC_000004.11:g.6602402G>A	(Likely) benign	1 lab	71cd153a85
2:163174641 IFIH1 A>G	2	163174641	163174641	A	G	IFIH1	c.177T>C	NM_022168.4	NP_071451.2:p.(Val59=)	NC_000002.11:g.163174641A>G	(Likely) benign	1 lab	71d0acac31
1:229567591 ACTA1 G>A	1	229567591	229567591	G	A	ACTA1	c.867C>T	NM_001100.3	NP_001091.1:p.(Ile289=)	NC_000001.10:g.229567591G>A	(Likely) benign	1 lab	71d0b9c784
17:78172345 CARD14 G>A	17	78172345	78172345	G	A	CARD14	c.1806G>A	NM_024110.4	NP_077015.2:p.(Ser602=)	NC_000017.10:g.78172345G>A	(Likely) benign	1 lab	71d93ee285
12:21614936 PYROXD1 T>G	12	21614936	21614936	T	G	PYROXD1	c.881-6T>G	NM_024854.5	NP_079130.2:p.?	NC_000012.11:g.21614936T>G	(Likely) benign	1 lab	71d990445c
9:130588809 ENG A>T	9	130588809	130588809	A	T	ENG	c.503T>A	NM_000118.3	NP_000109.1:p.(Ile168Asn)	NC_000009.11:g.130588809A>T	VUS	1 lab	71d9c771eb
6:35289153 DEF6 A>C	6	35289153	35289153	A	C	DEF6	c.1862A>C	NM_022047.4	NP_071330.3:p.(Gln621Pro)	NC_000006.11:g.35289153A>C	(Likely) benign	1 lab	71dc524c7e
15:89862344 POLG AAC>A	15	89862344	89862347	AAC	A	POLG	c.3105-16_3105-15del	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89862346_89862347del	(Likely) benign	1 lab	71df11a7e0
6:33648249 ITPR3 G>T	6	33648249	33648249	G	T	ITPR3	c.4350+18G>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33648249G>T	(Likely) benign	1 lab	71e0f859bf
17:43344062 MAP3K14 A>G	17	43344062	43344062	A	G	MAP3K14	c.2434-14T>C	NM_003954.5	NP_003945.2:p.?	NC_000017.10:g.43344062A>G	(Likely) benign	1 lab	71e2ff0829
5:134223521 TXNDC15 G>A	5	134223521	134223521	G	A	TXNDC15	c.240G>A	NM_024715.3	NP_078991.3:p.(Ala80=)	NC_000005.9:g.134223521G>A	(Likely) benign	1 lab	71e9b83249
7:111517227 DOCK4 T>C	7	111517227	111517227	T	C	DOCK4	c.1603A>G	NM_014705.4	NP_055520.3:p.(Asn535Asp)	NC_000007.13:g.111517227T>C	(Likely) benign	1 lab	71ec52076b
9:138648532 KCNT1 C>T	9	138648532	138648532	C	T	KCNT1	c.541-187C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138648532C>T	(Likely) benign	1 lab	71ef4c2068
13:32928968 BRCA2 A>G	13	32928968	32928968	A	G	BRCA2	c.7008-30A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32928968A>G	(Likely) benign	1 lab	71efa3cb4d
11:6411934 SMPD1 G>GCGCTGGCGC	11	6411934	6411935	G	GCGCTGGCGC	SMPD1	c.106_107insCGCTGGCGC	NM_000543.5	NP_000534.3:p.(Val36delinsAlaLeuAlaLeu)	NC_000011.9:g.6411934_6411935insCGCTGGCGC	(Likely) benign	1 lab	d15e6dc84b
7:143036318 CLCN1 G>A	7	143036318	143036318	G	A	CLCN1	c.1402-28G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143036318G>A	(Likely) benign	1 lab	71f035a2a0
6:21595565 SOX4 C>T	6	21595565	21595565	C	T	SOX4	c.800C>T	NM_003107.3	NP_003098.1:p.(Ala267Val)	NC_000006.11:g.21595565C>T	VUS	1 lab	d15effcea2
X:32867883 DMD G>A	X	32867883	32867883	G	A	DMD	c.124C>T	NM_000109.4	NP_000100.3:p.(Leu42Phe)	NC_000023.10:g.32867883G>A	(Likely) pathogenic	1 lab	71f4fcf988
17:42428835 GRN A>T	17	42428835	42428835	A	T	GRN	c.933+7A>T	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428835A>T	VUS	1 lab	71f50b74e3
19:10916657 DNM2 C>G	19	10916657	10916657	C	G	DNM2	c.1545+14C>G	NM_001005360.2	NP_001005360.1:p.?	NC_000019.9:g.10916657C>G	(Likely) benign	1 lab	71f6e20d16
16:50750489 NOD2 T>A	16	50750489	50750489	T	A	NOD2	c.2463-9T>A	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50750489T>A	(Likely) benign	1 lab	71fbb356a7
1:161479693 FCGR2A C>G	1	161479693	161479693	C	G	FCGR2A	c.448C>G	NM_001136219.3	NP_001129691.1:p.(Pro150Ala)	NC_000001.10:g.161479693C>G	(Likely) benign	1 lab	71fc25e792
22:36690278 MYH9 C>T	22	36690278	36690278	C	T	MYH9	c.3697G>A	NM_002473.5	NP_002464.1:p.(Val1233Met)	NC_000022.10:g.36690278C>T	(Likely) benign	1 lab	71ff5d1937
1:154245843 HAX1 C>T	1	154245843	154245843	C	T	HAX1	c.85C>T	NM_006118.3	NP_006109.2:p.(Arg29Ter)	NC_000001.10:g.154245843C>T	(Likely) pathogenic	1 lab	72024b9161
6:112512856 LAMA4 T>C	6	112512856	112512856	T	C	LAMA4	c.700A>G	NM_001105206.3	NP_001098676.2:p.(Ile234Val)	NC_000006.11:g.112512856T>C	(Likely) benign	1 lab	7203c29f83
8:145107795 OPLAH G>A	8	145107795	145107795	G	A	OPLAH	c.3027C>T	NM_017570.5	NP_060040.1:p.(Ala1009=)	NC_000008.10:g.145107795G>A	(Likely) benign	1 lab	d16587a2fd
20:45315721 TP53RK T>C	20	45315721	45315721	T	C	TP53RK	c.433A>G	NM_033550.4	NP_291028.3:p.(Thr145Ala)	NC_000020.10:g.45315721T>C	(Likely) benign	1 lab	720697bc51
2:231067365 SP110 A>C	2	231067365	231067365	A	C	SP110	c.978T>G	NM_080424.2	NP_536349.2:p.(Thr326=)	NC_000002.11:g.231067365A>C	(Likely) benign	1 lab	7207d944df
22:21348462 LZTR1 C>T	22	21348462	21348462	C	T	LZTR1	c.1519C>T	NM_006767.4	NP_006758.2:p.(Pro507Ser)	NC_000022.10:g.21348462C>T	VUS	1 lab	720d1e109a
16:3293566 MEFV T>A	16	3293566	3293566	T	A	MEFV	c.1921A>T	NM_000243.2	NP_000234.1:p.(Ile641Phe)	NC_000016.9:g.3293566T>A	VUS	1 lab	720fe5ea56
15:42115250 MAPKBP1 C>T	15	42115250	42115250	C	T	MAPKBP1	c.3446C>T	NM_001128608.2	NP_001122080.1:p.(Pro1149Leu)	NC_000015.9:g.42115250C>T	(Likely) benign	1 lab	72122d4981
4:985418 SLC26A1 C>T	4	985418	985418	C	T	SLC26A1	c.74G>A	NM_213613.4	NP_998778.1:p.(Arg25Gln)	NC_000004.11:g.985418C>T	(Likely) benign	1 lab	721bb8365b
7:91714240 AKAP9 C>T	7	91714240	91714240	C	T	AKAP9	c.8818C>T	NM_005751.4	NP_005742.4:p.(Pro2940Ser)	NC_000007.13:g.91714240C>T	VUS	1 lab	721c8c3c48
11:66478150 SPTBN2 C>T	11	66478150	66478150	C	T	SPTBN2	c.976G>A	NM_006946.4	NP_008877.2:p.(Val326Met)	NC_000011.9:g.66478150C>T	VUS	1 lab	d165cbcc3b
20:31022442 ASXL1 G>T	20	31022442	31022442	G	T	ASXL1	c.1927G>T	NM_015338.5	NP_056153.2:p.(Gly643Trp)	NC_000020.10:g.31022442G>T	(Likely) benign	1 lab	722556331d
15:26806023 GABRB3 T>C	15	26806023	26806023	T	C	GABRB3	c.1080+56A>G	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26806023T>C	(Likely) benign	1 lab	7228574847
16:56919195 SLC12A3 C>T	16	56919195	56919195	C	T	SLC12A3	c.1844C>T	NM_000339.3	NP_000330.3:p.(Ser615Leu)	NC_000016.9:g.56919195C>T	(Likely) pathogenic	1 lab	722c77e624
2:179424399 TTN A>G	2	179424399	179424399	A	G	TTN	c.86460T>C	NM_001267550.2	NP_001254479.2:p.(Ser28820=)	NC_000002.11:g.179424399A>G	(Likely) benign	1 lab	d166a03e7e
4:9982203 SLC2A9 G>A	4	9982203	9982203	G	A	SLC2A9	c.681+13C>T	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9982203G>A	(Likely) benign	1 lab	7236efcb57
9:6620216 GLDC C>T	9	6620216	6620216	C	T	GLDC	c.438G>A	NM_000170.2	NP_000161.2:p.(Thr146=)	NC_000009.11:g.6620216C>T	(Likely) benign	1 lab	7237995776
13:32912293 BRCA2 TTC>T	13	32912293	32912296	TTC	T	BRCA2	c.3803_3804del	NM_000059.4	NP_000050.3:p.(Ser1268CysfsTer6)	NC_000013.10:g.32912295_32912296del	(Likely) pathogenic	1 lab	723d294f84
19:1612224 TCF3 G>A	19	1612224	1612224	G	A	TCF3	c.1795C>T	NM_001351779.2	NP_001338708.1:p.(Leu599=)	NC_000019.9:g.1612224G>A	(Likely) benign	1 lab	723d765461
15:41275979 INO80 G>A	15	41275979	41275979	G	A	INO80	c.4218C>T	NM_017553.3	NP_060023.1:p.(Ser1406=)	NC_000015.9:g.41275979G>A	(Likely) benign	1 lab	724307d8ea
2:129026457 HS6ST1 G>A	2	129026457	129026457	G	A	HS6ST1	c.528-13C>T	NM_004807.3	NP_004798.3:p.?	NC_000002.11:g.129026457G>A	(Likely) benign	1 lab	724845ced8
14:50649329 SOS2 A>G	14	50649329	50649329	A	G	SOS2	c.715-5T>C	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50649329A>G	(Likely) benign	1 lab	72490d27e3
19:7707340 STXBP2 G>T	19	7707340	7707340	G	T	STXBP2	c.853G>T	NM_001272034.2	NP_001258963.1:p.(Ala285Ser)	NC_000019.9:g.7707340G>T	(Likely) benign	1 lab	72495d2e50
17:41246927 BRCA1 A>T	17	41246927	41246927	A	T	BRCA1	c.671-50T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41246927A>T	(Likely) benign	1 lab	724a04d0c1
6:42975012 PPP2R5D C>A	6	42975012	42975012	C	A	PPP2R5D	c.601C>A	NM_006245.4	NP_006236.1:p.(Pro201Thr)	NC_000006.11:g.42975012C>A	(Likely) pathogenic	1 lab	724ba5baf1
1:17314633 ATP13A2 C>T	1	17314633	17314633	C	T	ATP13A2	c.2859G>A	NM_022089.4	NP_071372.1:p.(Thr953=)	NC_000001.10:g.17314633C>T	(Likely) benign	1 lab	724f0ac3fe
12:103249051 PAH A>G	12	103249051	103249051	A	G	PAH	c.569T>C	NM_000277.3	NP_000268.1:p.(Val190Ala)	NC_000012.11:g.103249051A>G	(Likely) pathogenic	1 lab	724f21ee03
21:34948068 SON T>C	21	34948068	34948068	T	C	SON	c.7106-16T>C	NM_138927.2	NP_620305.2:p.?	NC_000021.8:g.34948068T>C	(Likely) benign	1 lab	724f2d994d
1:11090840 MASP2 C>T	1	11090840	11090840	C	T	MASP2	c.1187G>A	NM_006610.4	NP_006601.2:p.(Cys396Tyr)	NC_000001.10:g.11090840C>T	VUS	1 lab	d167a0ab6f
8:11405552 BLK G>A	8	11405552	11405552	G	A	BLK	c.187G>A	NM_001715.3	NP_001706.2:p.(Val63Met)	NC_000008.10:g.11405552G>A	(Likely) benign	1 lab	725766a8b5
2:233001193 DIS3L2 C>T	2	233001193	233001193	C	T	DIS3L2	c.714C>T	NM_152383.4	NP_689596.4:p.(Ile238=)	NC_000002.11:g.233001193C>T	(Likely) benign	1 lab	7257cf9400
3:123345782 MYLK G>A	3	123345782	123345782	G	A	MYLK	c.5121C>T	NM_053025.3	NP_444253.3:p.(Arg1707=)	NC_000003.11:g.123345782G>A	(Likely) benign	1 lab	7258a3c763
5:127670603 FBN2 C>T	5	127670603	127670603	C	T	FBN2	c.3974-67G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127670603C>T	(Likely) benign	1 lab	725d1ee6e7
22:37892436 CARD10 G>A	22	37892436	37892436	G	A	CARD10	c.2059+20C>T	NM_014550.4	NP_055365.2:p.?	NC_000022.10:g.37892436G>A	(Likely) benign	1 lab	725ede2a22
2:241814577 AGXT C>A	2	241814577	241814577	C	A	AGXT	c.732C>A	NM_000030.3	NP_000021.1:p.(Ile244=)	NC_000002.11:g.241814577C>A	(Likely) benign	1 lab	7264e95733
8:100287579 VPS13B G>C	8	100287579	100287579	G	C	VPS13B	c.2824+97G>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100287579G>C	(Likely) benign	1 lab	7267a8ed6d
11:6645298 DCHS1 G>A	11	6645298	6645298	G	A	DCHS1	c.7609C>T	NM_003737.4	NP_003728.1:p.(Leu2537=)	NC_000011.9:g.6645298G>A	VUS	1 lab	726add8266
17:26851121 FOXN1 G>A	17	26851121	26851121	G	A	FOXN1	c.123+11G>A	NM_003593.2	NP_003584.2:p.?	NC_000017.10:g.26851121G>A	(Likely) benign	1 lab	726e732e64
17:10552884 MYH3 C>T	17	10552884	10552884	C	T	MYH3	c.642+10G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10552884C>T	(Likely) benign	1 lab	7273085995
1:158607888 SPTA1 T>A	1	158607888	158607888	T	A	SPTA1	c.5124A>T	NM_003126.3	NP_003117.2:p.(Lys1708Asn)	NC_000001.10:g.158607888T>A	VUS	1 lab	7274dc89e2
1:160319972 NCSTN G>A	1	160319972	160319972	G	A	NCSTN	c.514G>A	NM_015331.3	NP_056146.1:p.(Ala172Thr)	NC_000001.10:g.160319972G>A	VUS	1 lab	7279e76f2c
21:34635228 IFNAR2 G>A	21	34635228	34635228	G	A	IFNAR2	c.971G>A	NM_207585.2	NP_997468.1:p.(Ser324Asn)	NC_000021.8:g.34635228G>A	(Likely) benign	1 lab	727bc069da
16:3293506 MEFV C>T	16	3293506	3293506	C	T	MEFV	c.1981G>A	NM_000243.2	NP_000234.1:p.(Asp661Asn)	NC_000016.9:g.3293506C>T	VUS	1 lab	727c9483d7
2:166912926 SCN1A A>C	2	166912926	166912926	A	C	SCN1A	c.468T>G	NM_001165963.3	NP_001159435.1:p.(Asn156Lys)	NC_000002.11:g.166912926A>C	VUS	1 lab	727fc1b0d1
18:28671381 DSC2 GA>G	18	28671381	28671390	GA	G	DSC2	c.355-272del	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28671390del	(Likely) benign	1 lab	728af561b6
1:94667305 ARHGAP29 C>T	1	94667305	94667305	C	T	ARHGAP29	c.1252G>A	NM_004815.4	NP_004806.3:p.(Val418Ile)	NC_000001.10:g.94667305C>T	(Likely) benign	1 lab	728b04f210
12:52159448 SCN8A T>TC	12	52159448	52159450	T	TC	SCN8A	c.2545-5dup	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52159450dup	(Likely) benign	1 lab	728f81a1c4
3:48508115 TREX1 G>A	3	48508115	48508115	G	A	TREX1	c.61G>A	NM_033629.6	NP_338599.1:p.(Ala21Thr)	NC_000003.11:g.48508115G>A	VUS	1 lab	7292263760
5:37815941 GDNF C>T	5	37815941	37815941	C	T	GDNF	c.448G>A	NM_000514.4	NP_000505.1:p.(Asp150Asn)	NC_000005.9:g.37815941C>T	(Likely) benign	1 lab	7294afd15a
10:100249971 HPSE2 G>A	10	100249971	100249971	G	A	HPSE2	c.1321-18C>T	NM_001166246.1	NP_001159718.1:p.?	NC_000010.10:g.100249971G>A	(Likely) benign	1 lab	72958600cc
19:7712633 STXBP2 G>A	19	7712633	7712633	G	A	STXBP2	c.1719G>A	NM_006949.2	NP_008880.2:p.(Pro573=)	NC_000019.9:g.7712633G>A	(Likely) benign	1 lab	729e44471c
15:43499393 EPB42 G>A	15	43499393	43499393	G	A	EPB42	c.1408+4C>T	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43499393G>A	(Likely) benign	1 lab	72b7fb7247
2:168107155 XIRP2 G>A	2	168107155	168107155	G	A	XIRP2	c.9253G>A	NM_152381.6	NP_689594.4:p.(Ala3085Thr)	NC_000002.11:g.168107155G>A	(Likely) benign	1 lab	72b8b1cf8e
13:32937362 BRCA2 A>G	13	32937362	32937362	A	G	BRCA2	c.8023A>G	NM_000059.3	NP_000050.2:p.(Ile2675Val)	NC_000013.10:g.32937362A>G	(Likely) pathogenic	1 lab	72c42b6239
8:145540986 DGAT1 G>A	8	145540986	145540986	G	A	DGAT1	c.1094+10C>T	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145540986G>A	(Likely) benign	1 lab	72c5fa47b7
14:65236547 SPTB G>C	14	65236547	65236547	G	C	SPTB	c.5799-101C>G	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65236547G>C	(Likely) benign	1 lab	72cabf2340
15:48791234 FBN1 C>T	15	48791234	48791234	C	T	FBN1	c.2115G>A	NM_000138.4	NP_000129.3:p.(Ala705=)	NC_000015.9:g.48791234C>T	VUS	1 lab	72cb0e4d62
4:187628947 FAT1 C>T	4	187628947	187628947	C	T	FAT1	c.2035G>A	NM_005245.4	NP_005236.2:p.(Val679Ile)	NC_000004.11:g.187628947C>T	(Likely) benign	1 lab	72cc7246d6
16:4848092 ROGDI G>C	16	4848092	4848092	G	C	ROGDI	c.625C>G	NM_024589.2	NP_078865.1:p.(Leu209Val)	NC_000016.9:g.4848092G>C	(Likely) benign	1 lab	72dc083ce8
8:11614600 GATA4 C>T	8	11614600	11614600	C	T	GATA4	c.1146+8C>T	NM_002052.5	NP_002043.2:p.?	NC_000008.10:g.11614600C>T	(Likely) benign	1 lab	72dfe65e9e
3:137880829 DBR1 G>C	3	137880829	137880829	G	C	DBR1	c.1537C>G	NM_016216.4	NP_057300.2:p.(Leu513Val)	NC_000003.11:g.137880829G>C	(Likely) benign	1 lab	72e2eb0d81
4:151738340 LRBA A>G	4	151738340	151738340	A	G	LRBA	c.5241T>C	NM_001199282.2	NP_001186211.2:p.(Asn1747=)	NC_000004.11:g.151738340A>G	(Likely) benign	1 lab	72e7da37de
2:88926724 EIF2AK3 G>A	2	88926724	88926724	G	A	EIF2AK3	c.69C>T	NM_004836.7	NP_004827.4:p.(Leu23=)	NC_000002.11:g.88926724G>A	(Likely) benign	1 lab	72e8392f10
1:2161135 SKI A>G	1	2161135	2161135	A	G	SKI	c.930A>G	NM_003036.4	NP_003027.1:p.(Lys310=)	NC_000001.10:g.2161135A>G	(Likely) benign	1 lab	72e9403710
3:46904775 MYL3 C>T	3	46904775	46904775	C	T	MYL3	c.106G>A	NM_000258.2	NP_000249.1:p.(Glu36Lys)	NC_000003.11:g.46904775C>T	VUS	1 lab	72eaa9ce53
16:90002146 TUBB3 G>A	16	90002146	90002146	G	A	TUBB3	c.1071G>A	NM_001197181.2	NP_001184110.1:p.(Thr357=)	NC_000016.9:g.90002146G>A	(Likely) benign	1 lab	72f1b8d63d
7:116339382 MET G>A	7	116339382	116339382	G	A	MET	c.244G>A	NM_001127500.1	NP_001120972.1:p.(Ala82Thr)	NC_000007.13:g.116339382G>A	VUS	1 lab	72f419c2e5
11:6648739 DCHS1 G>A	11	6648739	6648739	G	A	DCHS1				NC_000011.9:g.6648739G>A	(Likely) benign	1 lab	045d7b9d60
9:130587153 ENG A>G	9	130587153	130587153	A	G	ENG	c.917T>C	NM_000118.3	NP_000109.1:p.(Leu306Pro)	NC_000009.11:g.130587153A>G	(Likely) pathogenic	1 lab	72f9bc606f
18:47455982 MYO5B A>G	18	47455982	47455982	A	G	MYO5B	c.2004-14T>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47455982A>G	(Likely) benign	1 lab	72facf0580
8:68430031 CPA6 T>A	8	68430031	68430031	T	A	CPA6	c.317+127A>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68430031T>A	(Likely) benign	1 lab	7300dd22e1
9:139390968 NOTCH1 A>G	9	139390968	139390968	A	G	NOTCH1	c.7223T>C	NM_017617.5	NP_060087.3:p.(Leu2408Pro)	NC_000009.11:g.139390968A>G	VUS	1 lab	7303bc0b87
2:166234076 SCN2A A>G	2	166234076	166234076	A	G	SCN2A	c.4255-31A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166234076A>G	(Likely) benign	1 lab	7309f32b94
6:152630997 SYNE1 G>A	6	152630997	152630997	G	A	SYNE1	c.17175C>T	NM_182961.4	NP_892006.3:p.(Thr5725=)	NC_000006.11:g.152630997G>A	(Likely) benign	1 lab	730a742549
16:56868309 NUP93 C>T	16	56868309	56868309	C	T	NUP93	c.1692C>T	NM_014669.5	NP_055484.3:p.(Asn564=)	NC_000016.9:g.56868309C>T	(Likely) benign	1 lab	730c8503fc
19:10473300 TYK2 C>T	19	10473300	10473300	C	T	TYK2	c.1401G>A	NM_003331.4	NP_003322.3:p.(Glu467=)	NC_000019.9:g.10473300C>T	(Likely) benign	1 lab	73119564f9
17:40622210 ATP6V0A1 C>T	17	40622210	40622210	C	T	ATP6V0A1	c.397C>T	NM_001130020.3	NP_001123492.1:p.(Arg133Cys)	NC_000017.10:g.40622210C>T	VUS	1 lab	d17055e2e7
12:111885892 SH2B3 G>A	12	111885892	111885892	G	A	SH2B3	c.1514G>A	NM_005475.2	NP_005466.1:p.(Gly505Asp)	NC_000012.11:g.111885892G>A	(Likely) benign	1 lab	73136d8261
16:1252394 CACNA1H G>A	16	1252394	1252394	G	A	CACNA1H	c.1944G>A	NM_021098.3	NP_066921.2:p.(Pro648=)	NC_000016.9:g.1252394G>A	(Likely) benign	1 lab	73190d537f
5:37226960 CPLANE1 C>T	5	37226960	37226960	C	T	CPLANE1	c.1737G>A	NM_023073.3	NP_075561.3:p.(Ala579=)	NC_000005.9:g.37226960C>T	(Likely) benign	1 lab	731d44b047
11:35327602 SLC1A2 G>A	11	35327602	35327602	G	A	SLC1A2	c.730+19C>T	NM_004171.4	NP_004162.2:p.?	NC_000011.9:g.35327602G>A	(Likely) benign	1 lab	731fac72d9
5:89910904 ADGRV1 AT>A	5	89910904	89910914	AT	A	ADGRV1	c.207+78del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910914del	(Likely) benign	1 lab	73233c7a65
1:196705951 CFH T>C	1	196705951	196705951	T	C	CFH	c.2414-3T>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196705951T>C	(Likely) benign	1 lab	732416bd5c
9:340339 DOCK8 G>A	9	340339	340339	G	A	DOCK8	c.1679+18G>A	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.340339G>A	(Likely) benign	1 lab	73268b2c5f
2:128046258 ERCC3 C>T	2	128046258	128046258	C	T	ERCC3	c.1005G>A	NM_000122.1	NP_000113.1:p.(Ser335=)	NC_000002.11:g.128046258C>T	(Likely) benign	1 lab	732c28461d
12:49426539 KMT2D A>C	12	49426539	49426539	A	C	KMT2D	c.11949T>G	NM_003482.3	NP_003473.3:p.(Thr3983=)	NC_000012.11:g.49426539A>C	(Likely) benign	1 lab	732ff77995
5:176931606 MISSING G>T	5	176931606	176931606	G	T	MISSING				NC_000005.9:g.176931606G>T	(Likely) benign	1 lab	7332ab617a
14:69371366 ACTN1 T>C	14	69371366	69371366	T	C	ACTN1	c.676+6A>G	NM_001130004.1	NP_001123476.1:p.?	NC_000014.8:g.69371366T>C	(Likely) benign	1 lab	733461875d
14:74766341 ABCD4 A>G	14	74766341	74766341	A	G	ABCD4	c.195T>C	NM_005050.4	NP_005041.1:p.(Ser65=)	NC_000014.8:g.74766341A>G	(Likely) benign	1 lab	73346a488e
14:102506997 DYNC1H1 A>G	14	102506997	102506997	A	G	DYNC1H1	c.11928A>G	NM_001376.4	NP_001367.2:p.(Glu3976=)	NC_000014.8:g.102506997A>G	(Likely) benign	1 lab	7334d11424
8:144998975 PLEC G>A	8	144998975	144998975	G	A	PLEC	c.5533C>T	NM_201380.4	NP_958782.1:p.(Arg1845Cys)	NC_000008.10:g.144998975G>A	VUS	1 lab	7334dd0d66
17:73827441 UNC13D C>CG	17	73827441	73827442	C	CG	UNC13D	c.2448-13_2448-12insC	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73827441_73827442insG	(Likely) benign	1 lab	7334f3a9c7
2:202137381 CASP8 A>G	2	202137381	202137381	A	G	CASP8	c.609A>G	NM_001080125.2	NP_001073594.1:p.(Ile203Met)	NC_000002.11:g.202137381A>G	(Likely) benign	1 lab	733d416fec
18:29118888 DSG2 G>T	18	29118888	29118888	G	T	DSG2	c.1826G>T	NM_001943.3	NP_001934.2:p.(Gly609Val)	NC_000018.9:g.29118888G>T	(Likely) benign	1 lab	733eafc45c
2:179538454 TTN T>G	2	179538454	179538454	T	G	TTN	c.34709-17A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179538454T>G	(Likely) benign	1 lab	734048f59d
13:39424189 FREM2 T>G	13	39424189	39424189	T	G	FREM2	c.6394T>G	NM_207361.6	NP_997244.4:p.(Phe2132Val)	NC_000013.10:g.39424189T>G	(Likely) pathogenic	1 lab	7343e22809
6:168352226 AFDN C>A	6	168352226	168352226	C	A	AFDN	c.4048C>A	NM_001291964.1	NP_001278893.1:p.(Pro1350Thr)	NC_000006.11:g.168352226C>A	(Likely) benign	1 lab	734a0f5fbc
11:14385929 RRAS2 A>G	11	14385929	14385929	A	G	RRAS2	c.3+8T>C	NM_001177314.1	NP_001170785.1:p.?	NC_000011.9:g.14385929A>G	(Likely) benign	1 lab	734dd32830
20:62321083 RTEL1 C>T	20	62321083	62321083	C	T	RTEL1	c.2026-20C>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62321083C>T	(Likely) benign	1 lab	73516b5275
2:166170104 SCN2A C>G	2	166170104	166170104	C	G	SCN2A	c.1035-26C>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166170104C>G	VUS	1 lab	7351d05a17
19:17017798 MISSING C>A	19	17017798	17017798	C	A	MISSING				NC_000019.9:g.17017798C>A	VUS	1 lab	0478ebb04e
8:95888726 INTS8 C>T	8	95888726	95888726	C	T	INTS8	c.2871+9C>T	NM_017864.4	NP_060334.2:p.?	NC_000008.10:g.95888726C>T	(Likely) benign	1 lab	73558db59b
18:2927767 LPIN2 A>C	18	2927767	2927767	A	C	LPIN2	c.1663T>G	NM_014646.2	NP_055461.1:p.(Ser555Ala)	NC_000018.9:g.2927767A>C	VUS	1 lab	d175e3381b
10:67680210 CTNNA3 T>A	10	67680210	67680210	T	A	CTNNA3	c.2566A>T	NM_013266.4	NP_037398.2:p.(Lys856Ter)	NC_000010.10:g.67680210T>A	VUS	1 lab	735ae1511c
15:77310511 PSTPIP1 C>T	15	77310511	77310511	C	T	PSTPIP1	c.59C>T	NM_003978.3	NP_003969.2:p.(Thr20Met)	NC_000015.9:g.77310511C>T	(Likely) benign	1 lab	735fda54c9
1:230849815 AGT G>A	1	230849815	230849815	G	A	AGT	c.-4+17C>T	NM_000029.4	NP_000020.1:p.?	NC_000001.10:g.230849815G>A	(Likely) benign	1 lab	73636bb676
7:124511096 POT1 C>A	7	124511096	124511096	C	A	POT1	c.125-1G>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124511096C>A	VUS	1 lab	7364ce84f6
X:32430009 DMD G>A	X	32430009	32430009	G	A	DMD	c.3724C>T	NM_004010.3	NP_004001.1:p.(Leu1242Phe)	NC_000023.10:g.32430009G>A	(Likely) benign	1 lab	73663a5d6b
12:33031068 PKP2 C>T	12	33031068	33031068	C	T	PKP2	c.746G>A	NM_004572.3	NP_004563.2:p.(Ser249Asn)	NC_000012.11:g.33031068C>T	(Likely) pathogenic	1 lab	7368eac94b
16:3292874 MEFV C>T	16	3292874	3292874	C	T	MEFV	c.*267G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3292874C>T	(Likely) benign	1 lab	736d6d5c9c
11:47371592 MYBPC3 G>A	11	47371592	47371592	G	A	MYBPC3	c.478C>T	NM_000256.3	NP_000247.2:p.(Arg160Trp)	NC_000011.9:g.47371592G>A	(Likely) benign	1 lab	736f6cbd3f
17:73836121 UNC13D G>A	17	73836121	73836121	G	A	UNC13D	c.929C>T	NM_199242.2	NP_954712.1:p.(Ser310Phe)	NC_000017.10:g.73836121G>A	VUS	1 lab	736f9f5a58
15:93518063 CHD2 A>G	15	93518063	93518063	A	G	CHD2	c.2506-46A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93518063A>G	(Likely) benign	1 lab	73711908ed
1:155263229 PKLR C>T	1	155263229	155263229	C	T	PKLR	c.1269G>A	NM_000298.6	NP_000289.1:p.(Ala423=)	NC_000001.10:g.155263229C>T	(Likely) pathogenic	1 lab	7373ef9792
17:3561334 CTNS C>T	17	3561334	3561334	C	T	CTNS	c.717C>T	NM_004937.3	NP_004928.2:p.(Gly239=)	NC_000017.10:g.3561334C>T	(Likely) benign	1 lab	7378eb680d
17:48267046 COL1A1 G>T	17	48267046	48267046	G	T	COL1A1	c.2661C>A	NM_000088.3	NP_000079.2:p.(Gly887=)	NC_000017.10:g.48267046G>T	(Likely) benign	1 lab	737a110ed4
X:25031443 ARX G>A	X	25031443	25031443	G	A	ARX	c.669C>T	NM_139058.3	NP_620689.1:p.(Thr223=)	NC_000023.10:g.25031443G>A	(Likely) benign	1 lab	737af890b7
6:108243119 SEC63 GAAAAAC>G	6	108243119	108243130	GAAAAAC	G	SEC63	c.340-12_340-7del	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243130del	(Likely) benign	1 lab	737d57b91e
16:88815904 PIEZO1 G>C	16	88815904	88815904	G	C	PIEZO1	c.65-17C>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88815904G>C	(Likely) benign	1 lab	737df6ecc0
18:48465827 ME2 G>A	18	48465827	48465827	G	A	ME2	c.1418-113G>A	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48465827G>A	(Likely) benign	1 lab	73811b7e79
20:44751363 CD40 C>T	20	44751363	44751363	C	T	CD40	c.371C>T	NM_001250.4	NP_001241.1:p.(Ser124Leu)	NC_000020.10:g.44751363C>T	(Likely) benign	1 lab	73813d786d
5:149776277 TCOF1 A>AG	5	149776277	149776281	A	AG	TCOF1	c.4218dup	NM_001135243.1	NP_001128715.1:p.(Ser1407ValfsTer23)	NC_000005.9:g.149776281dup	(Likely) pathogenic	1 lab	73828623b8
8:41580465 ANK1 T>C	8	41580465	41580465	T	C	ANK1	c.909+178A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41580465T>C	(Likely) benign	1 lab	7389ebdb55
14:105169776 INF2 C>T	14	105169776	105169776	C	T	INF2	c.652C>T	NM_022489.3	NP_071934.3:p.(Arg218Trp)	NC_000014.8:g.105169776C>T	(Likely) pathogenic	1 lab	7396b2fd14
18:52988710 TCF4 GA>G	18	52988710	52988717	GA	G	TCF4	c.549+28879del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52988717del	(Likely) benign	1 lab	7397282e97
1:57395228 C8B G>A	1	57395228	57395228	G	A	C8B	c.1625C>T	NM_000066.2	NP_000057.1:p.(Thr542Ile)	NC_000001.10:g.57395228G>A	(Likely) benign	1 lab	739a3f9888
3:38640475 SCN5A A>T	3	38640475	38640475	A	T	SCN5A	c.1957T>A	NM_198056.2	NP_932173.1:p.(Phe653Ile)	NC_000003.11:g.38640475A>T	VUS	1 lab	739c7cd0a1
13:31821148 B3GLCT T>C	13	31821148	31821148	T	C	B3GLCT	c.271-12T>C	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31821148T>C	(Likely) benign	1 lab	739e44792a
1:152277003 FLG C>T	1	152277003	152277003	C	T	FLG	c.10359G>A	NM_002016.2	NP_002007.1:p.(Ser3453=)	NC_000001.10:g.152277003C>T	(Likely) benign	1 lab	d17cf93efb
7:117230458 CFTR C>T	7	117230458	117230458	C	T	CFTR	c.1731C>T	NM_000492.4	NP_000483.3:p.(Tyr577=)	NC_000007.13:g.117230458C>T	(Likely) benign	1 lab	d17d50d5af
16:28499039 CLN3 G>A	16	28499039	28499039	G	A	CLN3	c.318C>T	NM_001042432.1	NP_001035897.1:p.(Leu106=)	NC_000016.9:g.28499039G>A	(Likely) benign	1 lab	73a674461e
22:32206743 DEPDC5 C>T	22	32206743	32206743	C	T	DEPDC5	c.1445+116C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32206743C>T	(Likely) benign	1 lab	73a7b22780
2:3653808 COLEC11 C>T	2	3653808	3653808	C	T	COLEC11	c.27C>T	NM_001255986.1	NP_001242915.1:p.(Tyr9=)	NC_000002.11:g.3653808C>T	(Likely) benign	1 lab	73aa0b40f9
5:125895125 ALDH7A1 G>T	5	125895125	125895125	G	T	ALDH7A1	c.914-99C>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125895125G>T	(Likely) benign	1 lab	73ab5470b3
11:64574651 MEN1 C>T	11	64574651	64574651	C	T	MEN1	c.839G>A	NM_000244.3	NP_000235.2:p.(Arg280Lys)	NC_000011.9:g.64574651C>T	(Likely) pathogenic	1 lab	73ac1fcdf3
12:110029061 MVK G>C	12	110029061	110029061	G	C	MVK	c.784G>C	NM_000431.2	NP_000422.1:p.(Ala262Pro)	NC_000012.11:g.110029061G>C	(Likely) pathogenic	1 lab	73ad532f7c
15:73615093 HCN4 G>A	15	73615093	73615093	G	A	HCN4	c.3341C>T	NM_005477.3	NP_005468.1:p.(Ala1114Val)	NC_000015.9:g.73615093G>A	VUS	1 lab	73b1047ca7
16:3304393 MEFV C>G	16	3304393	3304393	C	G	MEFV	c.675G>C	NM_000243.2	NP_000234.1:p.(Glu225Asp)	NC_000016.9:g.3304393C>G	VUS	1 lab	73b1fb0b1c
1:43904776 SZT2 C>T	1	43904776	43904776	C	T	SZT2	c.6621+12C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43904776C>T	(Likely) benign	1 lab	73b59649ba
22:45683309 UPK3A C>T	22	45683309	45683309	C	T	UPK3A	c.465C>T	NM_006953.4	NP_008884.1:p.(Pro155=)	NC_000022.10:g.45683309C>T	(Likely) benign	1 lab	73b9e7c118
20:62070233 KCNQ2 G>A	20	62070233	62070233	G	A	KCNQ2	c.928-160C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62070233G>A	(Likely) benign	1 lab	73ba69a18f
10:43609948 RET T>G	10	43609948	43609948	T	G	RET	c.1900T>G	NM_020975.4	NP_066124.1:p.(Cys634Gly)	NC_000010.10:g.43609948T>G	(Likely) pathogenic	1 lab	73bc1ec340
2:50693640 NRXN1 TA>T	2	50693640	50693650	TA	T	NRXN1	c.3245-942del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50693650del	(Likely) benign	1 lab	73bee4973f
17:5424936 NLRP1 C>T	17	5424936	5424936	C	T	NLRP1	c.3691G>A	NM_033004.4	NP_127497.1:p.(Val1231Ile)	NC_000017.10:g.5424936C>T	(Likely) benign	1 lab	73c23e3150
17:42429025 GRN G>A	17	42429025	42429025	G	A	GRN	c.1041G>A	NM_002087.2	NP_002078.1:p.(Lys347=)	NC_000017.10:g.42429025G>A	(Likely) benign	1 lab	73ca12df64
10:72637078 SGPL1 C>T	10	72637078	72637078	C	T	SGPL1	c.1693C>T	NM_003901.4	NP_003892.2:p.(Pro565Ser)	NC_000010.10:g.72637078C>T	(Likely) benign	1 lab	73cfa01180
1:158585230 SPTA1 C>T	1	158585230	158585230	C	T	SPTA1	c.6601-37G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158585230C>T	(Likely) benign	1 lab	73d3831514
11:59523120 STX3 C>T	11	59523120	59523120	C	T	STX3	c.30+12C>T	NM_004177.5	NP_004168.1:p.?	NC_000011.9:g.59523120C>T	(Likely) benign	1 lab	73da80f982
14:102514260 DYNC1H1 C>T	14	102514260	102514260	C	T	DYNC1H1	c.13113C>T	NM_001376.4	NP_001367.2:p.(Asp4371=)	NC_000014.8:g.102514260C>T	(Likely) benign	1 lab	73fcc53ed7
4:187628184 FAT1 C>T	4	187628184	187628184	C	T	FAT1	c.2798G>A	NM_005245.4	NP_005236.2:p.(Arg933His)	NC_000004.11:g.187628184C>T	(Likely) benign	1 lab	73e26bec29
2:168103304 XIRP2 G>A	2	168103304	168103304	G	A	XIRP2	c.5402G>A	NM_152381.6	NP_689594.4:p.(Arg1801His)	NC_000002.11:g.168103304G>A	(Likely) benign	1 lab	73e3beceba
X:106117194 TBC1D8B A>C	X	106117194	106117194	A	C	TBC1D8B	c.3362A>C	NM_017752.3	NP_060222.2:p.(Ter1121SerextTer8)	NC_000023.10:g.106117194A>C	(Likely) benign	1 lab	73e40dad50
6:51890350 PKHD1 ACC>A	6	51890350	51890352	ACC	A	PKHD1	c.4256_4257del	NM_138694.4	NP_619639.3:p.(Arg1419IlefsTer5)	NC_000006.11:g.51890351_51890352del	(Likely) pathogenic	1 lab	73e562eb25
1:27094495 ARID1A G>A	1	27094495	27094495	G	A	ARID1A	c.3198+5G>A	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27094495G>A	(Likely) pathogenic	1 lab	d184480707
10:18439810 CACNB2 A>ATTTGTT	10	18439810	18439811	A	ATTTGTT	CACNB2	c.37-2_37-1insTTTGTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTGTT	(Likely) benign	1 lab	73e784906d
4:15602773 CC2D2A C>CTTA	4	15602773	15602777	C	CTTA	CC2D2A	c.4675-85_4675-83dup	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15602775_15602777dup	(Likely) benign	1 lab	73ef503458
12:66923462 GRIP1 T>C	12	66923462	66923462	T	C	GRIP1	c.502+149A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66923462T>C	(Likely) benign	1 lab	73f19b308a
6:33635085 ITPR3 T>G	6	33635085	33635085	T	G	ITPR3	c.1713+18T>G	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33635085T>G	(Likely) benign	1 lab	73fcf165ec
5:147466001 SPINK5 G>A	5	147466001	147466001	G	A	SPINK5	c.316G>A	NM_001127698.2	NP_001121170.1:p.(Asp106Asn)	NC_000005.9:g.147466001G>A	(Likely) benign	1 lab	73fcfb0bd7
7:143039428 CLCN1 C>T	7	143039428	143039428	C	T	CLCN1	c.1797-37C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143039428C>T	(Likely) benign	1 lab	73ffdeed70
16:27414524 IL21R C>T	16	27414524	27414524	C	T	IL21R	c.33C>T	NM_181079.5	NP_851565.4:p.(His11=)	NC_000016.9:g.27414524C>T	(Likely) benign	1 lab	7402ac5a46
12:15654604 PTPRO A>T	12	15654604	15654604	A	T	PTPRO	c.712A>T	NM_030667.3	NP_109592.1:p.(Asn238Tyr)	NC_000012.11:g.15654604A>T	(Likely) benign	1 lab	7402e14f8c
8:68076039 CSPP1 G>A	8	68076039	68076039	G	A	CSPP1	c.2695+6G>A	NM_024790.6	NP_079066.5:p.?	NC_000008.10:g.68076039G>A	(Likely) benign	1 lab	7403ec9bc0
9:163985 MISSING A>G	9	163985	163985	A	G	MISSING				NC_000009.11:g.163985A>G	(Likely) benign	1 lab	7404a85df3
X:49856719 CLCN5 C>T	X	49856719	49856719	C	T	CLCN5	c.2151-67C>T	NM_000084.5	NP_000075.1:p.?	NC_000023.10:g.49856719C>T	(Likely) benign	1 lab	7404c3963e
2:227958869 COL4A4 TGGTGCTCCAGGCAAGCCA>T	2	227958869	227958891	TGGTGCTCCAGGCAAGCCA	T	COL4A4	c.1323_1340del	NM_000092.5	NP_000083.3:p.(Pro444_Leu449del)	NC_000002.11:g.227958874_227958891del	(Likely) pathogenic	1 lab	74068c6de6
17:45008450 GOSR2 T>C	17	45008450	45008450	T	C	GOSR2	c.95-15T>C	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45008450T>C	(Likely) benign	1 lab	7407920359
17:26093543 NOS2 T>C	17	26093543	26093543	T	C	NOS2	c.2239A>G	NM_000625.4	NP_000616.3:p.(Thr747Ala)	NC_000017.10:g.26093543T>C	(Likely) benign	1 lab	7430b34a88
1:160325426 NCSTN A>T	1	160325426	160325426	A	T	NCSTN	c.1353-19A>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160325426A>T	(Likely) benign	1 lab	740a93c6d0
6:161159553 PLG C>A	6	161159553	161159553	C	A	PLG	c.1803-17C>A	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161159553C>A	(Likely) benign	1 lab	740d6ae480
4:79440393 FRAS1 G>A	4	79440393	79440393	G	A	FRAS1	c.10390-92G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79440393G>A	(Likely) benign	1 lab	75b3913a69
12:103246692 PAH A>G	12	103246692	103246692	A	G	PAH	c.743T>C	NM_000277.3	NP_000268.1:p.(Leu248Pro)	NC_000012.11:g.103246692A>G	(Likely) pathogenic	1 lab	741219d5e3
15:51018568 SPPL2A C>T	15	51018568	51018568	C	T	SPPL2A	c.1096G>A	NM_032802.4	NP_116191.2:p.(Glu366Lys)	NC_000015.9:g.51018568C>T	(Likely) benign	1 lab	7412bbab5a
8:68346357 CPA6 A>C	8	68346357	68346357	A	C	CPA6	c.957T>G	NM_020361.5	NP_065094.3:p.(Ala319=)	NC_000008.10:g.68346357A>C	(Likely) benign	1 lab	7416e29ac6
1:65307190 JAK1 T>C	1	65307190	65307190	T	C	JAK1	c.2498A>G	NM_002227.4	NP_002218.2:p.(Asn833Ser)	NC_000001.10:g.65307190T>C	(Likely) benign	1 lab	741da0c073
8:1806273 ARHGEF10 C>T	8	1806273	1806273	C	T	ARHGEF10	c.257C>T	NM_001308153.2	NP_001295082.1:p.(Ala86Val)	NC_000008.10:g.1806273C>T	VUS	1 lab	7422ee289c
9:32485278 RIGI C>T	9	32485278	32485278	C	T	RIGI	c.1376-1G>A	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32485278C>T	VUS	1 lab	7425297f6d
8:12957647 DLC1 G>A	8	12957647	12957647	G	A	DLC1	c.2199C>T	NM_182643.3	NP_872584.2:p.(Ser733=)	NC_000008.10:g.12957647G>A	(Likely) benign	1 lab	742b60511c
1:207532881 CD55 T>TA	1	207532881	207532883	T	TA	CD55	c.1082-8dup	NM_000574.3	NP_000565.1:p.?	NC_000001.10:g.207532883dup	(Likely) benign	1 lab	742cb65fc5
4:79366655 FRAS1 G>C	4	79366655	79366655	G	C	FRAS1	c.5666-21G>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79366655G>C	(Likely) benign	1 lab	742dc8e831
12:122287613 HPD C>T	12	122287613	122287613	C	T	HPD	c.498G>A	NM_002150.3	NP_002141.2:p.(Met166Ile)	NC_000012.11:g.122287613C>T	(Likely) benign	1 lab	742fd63a44
22:31013432 TCN2 G>A	22	31013432	31013432	G	A	TCN2				NC_000022.10:g.31013432G>A	(Likely) benign	1 lab	7430126af3
8:11415451 BLK T>C	8	11415451	11415451	T	C	BLK	c.953-20T>C	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11415451T>C	(Likely) benign	1 lab	7430c8626d
8:133199557 KCNQ3 C>T	8	133199557	133199557	C	T	KCNQ3	c.387-1129G>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133199557C>T	(Likely) benign	1 lab	7430dc3b91
12:52310010 ACVRL1 C>T	12	52310010	52310010	C	T	ACVRL1	c.1239C>T	NM_000020.2	NP_000011.2:p.(Ile413=)	NC_000012.11:g.52310010C>T	(Likely) benign	1 lab	74342dcc22
1:22456146 WNT4 G>A	1	22456146	22456146	G	A	WNT4	c.276C>T	NM_030761.5	NP_110388.2:p.(Leu92=)	NC_000001.10:g.22456146G>A	(Likely) benign	1 lab	743833cab3
4:78987328 FRAS1 A>G	4	78987328	78987328	A	G	FRAS1	c.108+158A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78987328A>G	(Likely) benign	1 lab	743866a851
20:47990849 KCNB1 G>C	20	47990849	47990849	G	C	KCNB1	c.1248C>G	NM_004975.4	NP_004966.1:p.(Phe416Leu)	NC_000020.10:g.47990849G>C	(Likely) pathogenic	1 lab	74389f621f
9:16436033 BNC2 C>T	9	16436033	16436033	C	T	BNC2	c.2159G>A	NM_017637.5	NP_060107.3:p.(Arg720Gln)	NC_000009.11:g.16436033C>T	(Likely) benign	1 lab	743a8e49f1
3:15686243 BTD A>G	3	15686243	15686243	A	G	BTD	c.820A>G	NM_001281723.3	NP_001268652.2:p.(Ile274Val)	NC_000003.11:g.15686243A>G	(Likely) benign	1 lab	743aaa704b
4:154237294 TRIM2 G>C	4	154237294	154237294	G	C	TRIM2	c.1701+143G>C	NM_001130067.2	NP_001123539.1:p.?	NC_000004.11:g.154237294G>C	(Likely) benign	1 lab	743d0c9c95
2:166908118 SCN1A GCTAATCA>G	2	166908118	166908126	GCTAATCA	G	SCN1A	c.964+104_964+110del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166908120_166908126del	(Likely) benign	1 lab	743f8e9228
10:6066215 IL2RA C>G	10	6066215	6066215	C	G	IL2RA	c.359G>C	NM_000417.2	NP_000408.1:p.(Ser120Thr)	NC_000010.10:g.6066215C>G	(Likely) benign	1 lab	7441e6f668
4:79240674 FRAS1 C>T	4	79240674	79240674	C	T	FRAS1	c.2137+534C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79240674C>T	(Likely) benign	1 lab	7448af1ab2
12:6442608 TNFRSF1A G>A	12	6442608	6442608	G	A	TNFRSF1A	c.397C>T	NM_001065.3	NP_001056.1:p.(Arg133Trp)	NC_000012.11:g.6442608G>A	VUS	1 lab	75339b49b3
2:179638445 TTN G>A	2	179638445	179638445	G	A	TTN	c.7200C>T	NM_133432.3	NP_597676.3:p.(Asp2400=)	NC_000002.11:g.179638445G>A	(Likely) benign	1 lab	744ab5e04c
4:9909907 SLC2A9 G>A	4	9909907	9909907	G	A	SLC2A9	c.1065C>T	NM_020041.3	NP_064425.2:p.(Tyr355=)	NC_000004.11:g.9909907G>A	(Likely) benign	1 lab	744b735dbd
18:29178571 TTR C>A	18	29178571	29178571	C	A	TTR	c.377C>A	NM_000371.3	NP_000362.1:p.(Thr126Asn)	NC_000018.9:g.29178571C>A	(Likely) pathogenic	1 lab	744e8062eb
12:110034393 MVK C>T	12	110034393	110034393	C	T	MVK	c.*11C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110034393C>T	VUS	1 lab	745035c05f
11:57578974 CTNND1 G>A	11	57578974	57578974	G	A	CTNND1	c.2638+16G>A	NM_001085458.2	NP_001078927.1:p.?	NC_000011.9:g.57578974G>A	(Likely) benign	1 lab	7451ed633c
16:10971251 CIITA G>A	16	10971251	10971251	G	A	CIITA	c.52+12G>A	NM_000246.3	NP_000237.2:p.?	NC_000016.9:g.10971251G>A	(Likely) benign	1 lab	745697d804
17:41256089 BRCA1 AAAAAAAAAGAAAAG>A	17	41256089	41256105	AAAAAAAAAGAAAAG	A	BRCA1	c.441+36_441+49del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256092_41256105del	(Likely) benign	1 lab	74588bca89
19:36336917 NPHS1 C>G	19	36336917	36336917	C	G	NPHS1	c.1620G>C	NM_004646.3	NP_004637.1:p.(Ala540=)	NC_000019.9:g.36336917C>G	(Likely) benign	1 lab	745a31f1fa
12:15733057 PTPRO GA>G	12	15733057	15733067	GA	G	PTPRO	c.2997+18del	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15733067del	(Likely) benign	1 lab	77dd5c8a5b
14:67588910 GPHN T>C	14	67588910	67588910	T	C	GPHN	c.1627-63T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67588910T>C	(Likely) benign	1 lab	745aba5825
6:8054619 BLOC1S5 T>C	6	8054619	8054619	T	C	BLOC1S5	c.-100-14A>G	NM_001199322.1	NP_001186251.1:p.?	NC_000006.11:g.8054619T>C	(Likely) benign	1 lab	7465a4d1d6
9:14859296 FREM1 G>A	9	14859296	14859296	G	A	FREM1	c.516C>T	NM_144966.5	NP_659403.4:p.(Thr172=)	NC_000009.11:g.14859296G>A	(Likely) benign	1 lab	746815fb50
2:234078056 INPP5D AC>A	2	234078056	234078057	AC	A	INPP5D	c.1652+10del	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.234078057del	(Likely) benign	1 lab	746cb21d69
19:6702463 C3 G>A	19	6702463	6702463	G	A	C3	c.2354+19C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6702463G>A	(Likely) benign	1 lab	74bab3311f
14:102498510 DYNC1H1 A>G	14	102498510	102498510	A	G	DYNC1H1	c.9884-99A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102498510A>G	(Likely) benign	1 lab	7474d0fa6b
5:147486590 SPINK5 C>A	5	147486590	147486590	C	A	SPINK5	c.1480-10C>A	NM_006846.3	NP_006837.2:p.?	NC_000005.9:g.147486590C>A	(Likely) benign	1 lab	747b05fc13
12:110028581 MVK C>T	12	110028581	110028581	C	T	MVK	c.683C>T	NM_000431.2	NP_000422.1:p.(Pro228Leu)	NC_000012.11:g.110028581C>T	(Likely) pathogenic	1 lab	747d43aa87
1:247587667 NLRP3 C>G	1	247587667	247587667	C	G	NLRP3	c.916C>G	NM_001243133.2	NP_001230062.1:p.(Gln306Glu)	NC_000001.10:g.247587667C>G	(Likely) pathogenic	1 lab	747e3561a9
2:128044502 ERCC3 C>T	2	128044502	128044502	C	T	ERCC3	c.1119G>A	NM_000122.1	NP_000113.1:p.(Gln373=)	NC_000002.11:g.128044502C>T	(Likely) benign	1 lab	747f96148d
12:52883773 KRT6A C>T	12	52883773	52883773	C	T	KRT6A	c.1157G>A	NM_005554.4	NP_005545.1:p.(Arg386His)	NC_000012.11:g.52883773C>T	VUS	1 lab	d18cf72781
16:86601568 FOXC2 G>A	16	86601568	86601568	G	A	FOXC2	c.627G>A	NM_005251.3	NP_005242.1:p.(Lys209=)	NC_000016.9:g.86601568G>A	(Likely) benign	1 lab	748267ea92
8:143958281 CYP11B1 CA>C	8	143958281	143958286	CA	C	CYP11B1	c.615del	NM_000497.4	NP_000488.3:p.(Phe205LeufsTer17)	NC_000008.10:g.143958286del	(Likely) pathogenic	1 lab	74837ac1d6
2:227953478 COL4A4 G>A	2	227953478	227953478	G	A	COL4A4	c.1514C>T	NM_000092.4	NP_000083.3:p.(Pro505Leu)	NC_000002.11:g.227953478G>A	VUS	1 lab	7483827073
6:24289089 DCDC2 A>C	6	24289089	24289089	A	C	DCDC2	c.750T>G	NM_016356.5	NP_057440.2:p.(Ser250=)	NC_000006.11:g.24289089A>C	(Likely) benign	1 lab	74854c94d2
6:51613075 PKHD1 AG>A	6	51613075	51613076	AG	A	PKHD1	c.9338del	NM_138694.4	NP_619639.3:p.(Ser3113PhefsTer49)	NC_000006.11:g.51613076del	(Likely) pathogenic	1 lab	7489f4b908
16:1270477 CACNA1H G>A	16	1270477	1270477	G	A	CACNA1H	c.6545G>A	NM_021098.3	NP_066921.2:p.(Arg2182His)	NC_000016.9:g.1270477G>A	(Likely) benign	1 lab	748b70d8a5
1:247587725 NLRP3 G>A	1	247587725	247587725	G	A	NLRP3	c.974G>A	NM_001243133.2	NP_001230062.1:p.(Arg325Gln)	NC_000001.10:g.247587725G>A	VUS	1 lab	748bf40f82
2:74076551 STAMBP C>T	2	74076551	74076551	C	T	STAMBP	c.804C>T	NM_006463.5	NP_006454.1:p.(Leu268=)	NC_000002.11:g.74076551C>T	(Likely) benign	1 lab	74943f64ef
2:238249101 COL6A3 C>T	2	238249101	238249101	C	T	COL6A3	c.8458G>A	NM_004369.3	NP_004360.2:p.(Val2820Ile)	NC_000002.11:g.238249101C>T	(Likely) benign	1 lab	749651ef13
12:115120940 TBX3 A>G	12	115120940	115120940	A	G	TBX3	c.66T>C	NM_005996.4	NP_005987.3:p.(Pro22=)	NC_000012.11:g.115120940A>G	(Likely) benign	1 lab	749df9f8dd
13:39435552 FREM2 C>CT	13	39435552	39435563	C	CT	FREM2	c.7520-5dup	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435563dup	(Likely) benign	1 lab	74a54d58e4
12:52307745 ACVRL1 T>A	12	52307745	52307745	T	A	ACVRL1	c.526-13T>A	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52307745T>A	VUS	1 lab	74a70eff17
1:196801005 CFHR1 T>C	1	196801005	196801005	T	C	CFHR1	c.869T>C	NM_002113.2	NP_002104.2:p.(Leu290Ser)	NC_000001.10:g.196801005T>C	(Likely) benign	1 lab	74a8c9948d
1:179528842 NPHS2 A>G	1	179528842	179528842	A	G	NPHS2	c.506T>C	NM_014625.3	NP_055440.1:p.(Leu169Pro)	NC_000001.10:g.179528842A>G	(Likely) pathogenic	1 lab	74af44b1b8
10:16916403 CUBN G>A	10	16916403	16916403	G	A	CUBN	c.9206C>T	NM_001081.3	NP_001072.2:p.(Thr3069Ile)	NC_000010.10:g.16916403G>A	(Likely) benign	1 lab	74b0da015a
11:45827379 SLC35C1 C>T	11	45827379	45827379	C	T	SLC35C1	c.27C>T	NM_018389.4	NP_060859.4:p.(Ser9=)	NC_000011.9:g.45827379C>T	(Likely) benign	1 lab	74b2206d78
3:30713451 TGFBR2 A>C	3	30713451	30713451	A	C	TGFBR2	c.851A>C	NM_001024847.2	NP_001020018.1:p.(Tyr284Ser)	NC_000003.11:g.30713451A>C	VUS	1 lab	74b349d58e
6:26091823 HFE G>A	6	26091823	26091823	G	A	HFE	c.616+6G>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26091823G>A	(Likely) benign	1 lab	74b9ce2af7
5:41161980 C6 A>G	5	41161980	41161980	A	G	C6	c.1292-19T>C	NM_000065.2	NP_000056.2:p.?	NC_000005.9:g.41161980A>G	(Likely) benign	1 lab	74be1e0e12
X:119589403 LAMP2 TG>T	X	119589403	119589405	TG	T	LAMP2	c.205del	NM_002294.3	NP_002285.1:p.(His69MetfsTer4)	NC_000023.10:g.119589405del	(Likely) pathogenic	1 lab	74c38838b2
12:57957244 KIF5A G>A	12	57957244	57957244	G	A	KIF5A	c.152G>A	NM_004984.4	NP_004975.2:p.(Arg51His)	NC_000012.11:g.57957244G>A	(Likely) benign	1 lab	74c3e7c7ed
4:151935626 LRBA C>T	4	151935626	151935626	C	T	LRBA	c.169G>A	NM_001199282.2	NP_001186211.2:p.(Val57Ile)	NC_000004.11:g.151935626C>T	VUS	1 lab	74c65c2bd5
2:231077725 SP110 A>G	2	231077725	231077725	A	G	SP110	c.334T>C	NM_080424.4	NP_536349.3:p.(Trp112Arg)	NC_000002.11:g.231077725A>G	(Likely) benign	1 lab	d19c36a81b
3:14177303 TMEM43 C>T	3	14177303	14177303	C	T	TMEM43	c.781-4C>T	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14177303C>T	(Likely) benign	1 lab	74d3fb52fc
2:209215586 PIKFYVE A>G	2	209215586	209215586	A	G	PIKFYVE	c.5526A>G	NM_015040.4	NP_055855.2:p.(Glu1842=)	NC_000002.11:g.209215586A>G	(Likely) benign	1 lab	d1a566933e
1:201328787 TNNT2 T>C	1	201328787	201328787	T	C	TNNT2	c.785A>G	NM_001276347.2	NP_001263276.1:p.(Asn262Ser)	NC_000001.10:g.201328787T>C	VUS	1 lab	74d56e48d7
2:179638321 TTN C>T	2	179638321	179638321	C	T	TTN	c.7324G>A	NM_133432.3	NP_597676.3:p.(Asp2442Asn)	NC_000002.11:g.179638321C>T	VUS	1 lab	74d6609a5d
1:160264547 COPA A>G	1	160264547	160264547	A	G	COPA	c.2566+11T>C	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160264547A>G	(Likely) benign	1 lab	74d9ba6065
21:34717602 IFNAR1 C>T	21	34717602	34717602	C	T	IFNAR1	c.724C>T	NM_000629.3	NP_000620.2:p.(Gln242Ter)	NC_000021.8:g.34717602C>T	(Likely) pathogenic	1 lab	74dcdbe11c
5:169122798 DOCK2 T>TC	5	169122798	169122804	T	TC	DOCK2	c.844-3dup	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169122804dup	(Likely) benign	1 lab	74e1e51e20
15:93563558 CHD2 T>C	15	93563558	93563558	T	C	CHD2	c.5153+70T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563558T>C	(Likely) benign	1 lab	74e1f8fd8c
2:203421136 BMPR2 T>C	2	203421136	203421136	T	C	BMPR2	c.2748T>C	NM_001204.6	NP_001195.2:p.(Leu916=)	NC_000002.11:g.203421136T>C	(Likely) benign	1 lab	74e7a61346
6:32013975 TNXB G>A	6	32013975	32013975	G	A	TNXB	c.10577C>T	NM_019105.8	NP_061978.6:p.(Pro3526Leu)	NC_000006.11:g.32013975G>A	(Likely) benign	1 lab	74e7cedab3
12:111070349 TCTN1 GATA>G	12	111070349	111070356	GATA	G	TCTN1	c.702_704del	NM_001082538.3	NP_001076007.1:p.(Asn235del)	NC_000012.11:g.111070354_111070356del	(Likely) benign	1 lab	74e9a33ac9
22:51064469 ARSA G>T	22	51064469	51064469	G	T	ARSA	c.1002C>A	NM_000487.6	NP_000478.3:p.(Ser334Arg)	NC_000022.10:g.51064469G>T	(Likely) benign	1 lab	74ea4f539b
8:48824985 PRKDC C>T	8	48824985	48824985	C	T	PRKDC	c.2919G>A	NM_006904.6	NP_008835.5:p.(Ala973=)	NC_000008.10:g.48824985C>T	(Likely) benign	1 lab	74efbe472b
13:39265558 FREM2 T>A	13	39265558	39265558	T	A	FREM2	c.4077T>A	NM_207361.6	NP_997244.4:p.(Gly1359=)	NC_000013.10:g.39265558T>A	(Likely) benign	1 lab	74f2178f04
4:187518138 FAT1 C>T	4	187518138	187518138	C	T	FAT1	c.12556G>A	NM_005245.4	NP_005236.2:p.(Val4186Ile)	NC_000004.11:g.187518138C>T	(Likely) benign	1 lab	74f3464480
2:179444593 TTN T>G	2	179444593	179444593	T	G	TTN	c.67349-18A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179444593T>G	(Likely) benign	1 lab	74f4c2cb60
6:32943357 BRD2 C>T	6	32943357	32943357	C	T	BRD2	c.471+59C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943357C>T	(Likely) benign	1 lab	74f6d3c623
1:154574040 ADAR G>A	1	154574040	154574040	G	A	ADAR	c.1078C>T	NM_001111.5	NP_001102.3:p.(Arg360Ter)	NC_000001.10:g.154574040G>A	(Likely) pathogenic	1 lab	d1a7734bcd
X:119675354 CUL4B CA>C	X	119675354	119675367	CA	C	CUL4B	c.1443+102del	NM_001079872.2	NP_001073341.1:p.?	NC_000023.10:g.119675367del	(Likely) benign	1 lab	74fc7dab93
10:92675296 ANKRD1 T>C	10	92675296	92675296	T	C	ANKRD1	c.849+4A>G	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92675296T>C	VUS	1 lab	74ff9ea7e1
7:131194329 PODXL G>A	7	131194329	131194329	G	A	PODXL	c.722C>T	NM_005397.4	NP_005388.2:p.(Ser241Leu)	NC_000007.13:g.131194329G>A	(Likely) benign	1 lab	7500f6eea3
7:47968867 PKD1L1 C>T	7	47968867	47968867	C	T	PKD1L1	c.994G>A	NM_138295.5	NP_612152.1:p.(Val332Ile)	NC_000007.13:g.47968867C>T	(Likely) benign	1 lab	7502c28ee1
X:107829887 COL4A5 G>T	X	107829887	107829887	G	T	COL4A5	c.1075G>T	NM_033380.3	NP_203699.1:p.(Gly359Ter)	NC_000023.10:g.107829887G>T	(Likely) pathogenic	1 lab	7509145127
9:130588809 ENG A>G	9	130588809	130588809	A	G	ENG	c.503T>C	NM_000118.3	NP_000109.1:p.(Ile168Thr)	NC_000009.11:g.130588809A>G	(Likely) pathogenic	1 lab	750b561ef8
X:153609107 EMD C>T	X	153609107	153609107	C	T	EMD	c.400-6C>T	NM_000117.2	NP_000108.1:p.?	NC_000023.10:g.153609107C>T	(Likely) benign	1 lab	750e554e21
2:202625402 ALS2 A>C	2	202625402	202625402	A	C	ALS2	c.*124T>G	NM_001135745.2	NP_001129217.1:p.?	NC_000002.11:g.202625402A>C	(Likely) benign	1 lab	750f9a0f43
12:110017716 MVK TCTTTA>T	12	110017716	110017724	TCTTTA	T	MVK	c.340_344del	NM_000431.4	NP_000422.1:p.(Tyr114IlefsTer71)	NC_000012.11:g.110017720_110017724del	(Likely) pathogenic	1 lab	750fdbc5ae
1:196871648 CFHR4 C>T	1	196871648	196871648	C	T	CFHR4	c.159C>T	NM_001201550.3	NP_001188479.1:p.(Ser53=)	NC_000001.10:g.196871648C>T	(Likely) benign	1 lab	75153d0752
20:62124548 EEF1A2 G>C	20	62124548	62124548	G	C	EEF1A2	c.714C>G	NM_001958.3	NP_001949.1:p.(Pro238=)	NC_000020.10:g.62124548G>C	(Likely) benign	1 lab	751a61894f
9:451994 DOCK8 TTTTTTTTTC>T	9	451994	452003	TTTTTTTTTC	T	DOCK8	c.5962-16_5962-8del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451995_452003del	(Likely) benign	1 lab	7522b8124f
6:43190293 CUL9 C>T	6	43190293	43190293	C	T	CUL9	c.6946C>T	NM_015089.4	NP_055904.1:p.(Arg2316Trp)	NC_000006.11:g.43190293C>T	(Likely) benign	1 lab	7528be8f31
19:39412881 SARS2 C>T	19	39412881	39412881	C	T	SARS2	c.390G>A	NM_017827.4	NP_060297.1:p.(Gln130=)	NC_000019.9:g.39412881C>T	(Likely) benign	1 lab	752eaf546f
8:133146760 KCNQ3 AG>A	8	133146760	133146762	AG	A	KCNQ3	c.1701-126del	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146762del	(Likely) benign	1 lab	7535c7772d
4:79173515 FRAS1 CT>C	4	79173515	79173526	CT	C	FRAS1	c.310-20del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79173526del	(Likely) benign	1 lab	75373447df
12:53447185 TNS2 C>T	12	53447185	53447185	C	T	TNS2	c.253-10C>T	NM_015319.2	NP_056134.2:p.?	NC_000012.11:g.53447185C>T	(Likely) benign	1 lab	7538cd5172
2:227985754 COL4A4 T>A	2	227985754	227985754	T	A	COL4A4	c.303A>T	NM_000092.4	NP_000083.3:p.(Gly101=)	NC_000002.11:g.227985754T>A	(Likely) benign	1 lab	75390708b4
15:59502695 MYO1E T>C	15	59502695	59502695	T	C	MYO1E	c.1362+18A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59502695T>C	(Likely) benign	1 lab	753a454bb5
13:52531744 ATP7B C>G	13	52531744	52531744	C	G	ATP7B	c.2356-1G>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52531744C>G	(Likely) pathogenic	1 lab	753a84964e
2:179518554 TTN T>C	2	179518554	179518554	T	C	TTN	c.38535A>G	NM_001267550.1	NP_001254479.1:p.(Pro12845=)	NC_000002.11:g.179518554T>C	(Likely) benign	1 lab	753ac96e62
18:48604750 SMAD4 G>C	18	48604750	48604750	G	C	SMAD4	c.1572G>C	NM_005359.5	NP_005350.1:p.(Trp524Cys)	NC_000018.9:g.48604750G>C	(Likely) pathogenic	1 lab	754b1ad3ca
14:67578563 GPHN C>T	14	67578563	67578563	C	T	GPHN	c.1414-15C>T	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67578563C>T	(Likely) benign	1 lab	754bfb03e4
7:2979574 CARD11 C>G	7	2979574	2979574	C	G	CARD11	c.685-12G>C	NM_032415.6	NP_115791.3:p.?	NC_000007.13:g.2979574C>G	(Likely) benign	1 lab	7550d8cee5
14:23884356 MYH7 T>A	14	23884356	23884356	T	A	MYH7	c.5407A>T	NM_000257.2	NP_000248.2:p.(Ile1803Phe)	NC_000014.8:g.23884356T>A	(Likely) pathogenic	1 lab	756c72046f
19:11107030 SMARCA4 GAGAAAAAGA>G	19	11107030	11107049	GAGAAAAAGA	G	SMARCA4	c.1746_1754del	NM_001128849.3	NP_001122321.1:p.(Lys586_Lys588del)	NC_000019.9:g.11107041_11107049del	VUS	1 lab	d1aeaffeb6
15:78893787 CHRNA3 G>A	15	78893787	78893787	G	A	CHRNA3	c.1197C>T	NM_000743.5	NP_000734.2:p.(Asp399=)	NC_000015.9:g.78893787G>A	(Likely) benign	1 lab	7556f909fb
7:33192298 BBS9 TTA>T	7	33192298	33192300	TTA	T	BBS9	c.113-14_113-13del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33192299_33192300del	(Likely) benign	1 lab	7557356a8d
2:166848913 SCN1A C>T	2	166848913	166848913	C	T	SCN1A	c.4872G>A	NM_001165963.3	NP_001159435.1:p.(Leu1624=)	NC_000002.11:g.166848913C>T	(Likely) benign	1 lab	7559e1b552
6:152563547 SYNE1 A>G	6	152563547	152563547	A	G	SYNE1	c.19721T>C	NM_182961.4	NP_892006.3:p.(Ile6574Thr)	NC_000006.11:g.152563547A>G	VUS	1 lab	755bf95299
19:6718190 C3 A>G	19	6718190	6718190	A	G	C3	c.434-15T>C	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6718190A>G	(Likely) benign	1 lab	755d053b43
12:6442605 TNFRSF1A GCCGGTA>G	12	6442605	6442612	GCCGGTA	G	TNFRSF1A	c.394_399del	NM_001065.4	NP_001056.1:p.(Tyr132_Arg133del)	NC_000012.11:g.6442607_6442612del	(Likely) pathogenic	1 lab	755f80c1db
19:48631258 LIG1 G>A	19	48631258	48631258	G	A	LIG1	c.1841C>T	NM_000234.1	NP_000225.1:p.(Thr614Ile)	NC_000019.9:g.48631258G>A	(Likely) benign	1 lab	755fc66edb
18:59828374 PIGN C>T	18	59828374	59828374	C	T	PIGN	c.213G>A	NM_176787.4	NP_789744.1:p.(Pro71=)	NC_000018.9:g.59828374C>T	(Likely) benign	1 lab	75626fc4ed
16:2161017 PKD1 G>A	16	2161017	2161017	G	A	PKD1	c.4151C>T	NM_001009944.2	NP_001009944.2:p.(Thr1384Ile)	NC_000016.9:g.2161017G>A	(Likely) benign	1 lab	7564d53143
3:184075442 CLCN2 C>G	3	184075442	184075442	C	G	CLCN2	c.738G>C	NM_004366.6	NP_004357.3:p.(Val246=)	NC_000003.11:g.184075442C>G	(Likely) benign	1 lab	75653bd627
4:79258805 FRAS1 C>A	4	79258805	79258805	C	A	FRAS1	c.2279-23C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79258805C>A	(Likely) benign	1 lab	7567a7e818
8:68334940 CPA6 CA>C	8	68334940	68334951	CA	C	CPA6	c.1127-15del	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68334951del	(Likely) benign	1 lab	756fb3aa46
22:38379388 SOX10 C>G	22	38379388	38379388	C	G	SOX10	c.404G>C	NM_006941.4	NP_008872.1:p.(Ser135Thr)	NC_000022.10:g.38379388C>G	(Likely) pathogenic	1 lab	d1b32faa7a
9:2115893 SMARCA2 C>T	9	2115893	2115893	C	T	SMARCA2	c.3528C>T	NM_003070.5	NP_003061.3:p.(Thr1176=)	NC_000009.11:g.2115893C>T	(Likely) benign	1 lab	7571481113
13:32953418 BRCA2 G>T	13	32953418	32953418	G	T	BRCA2	c.8755-36G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953418G>T	(Likely) benign	1 lab	7576c378e3
18:55355482 ATP8B1 C>T	18	55355482	55355482	C	T	ATP8B1	c.1429+49G>A	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55355482C>T	(Likely) benign	1 lab	757979ba9f
7:128498095 FLNC A>G	7	128498095	128498095	A	G	FLNC	c.7814A>G	NM_001458.4	NP_001449.3:p.(Glu2605Gly)	NC_000007.13:g.128498095A>G	VUS	1 lab	757a0a7ef5
4:88964570 PKD2 CAG>C	4	88964570	88964572	CAG	C	PKD2	c.1281_1282del	NM_000297.4	NP_000288.1:p.(Tyr429GlnfsTer5)	NC_000004.11:g.88964571_88964572del	(Likely) pathogenic	1 lab	757d7ee467
1:228495983 OBSCN G>A	1	228495983	228495983	G	A	OBSCN	c.15509G>A	NM_001271223.2	NP_001258152.2:p.(Arg5170His)	NC_000001.10:g.228495983G>A	(Likely) benign	1 lab	7583170158
21:33040860 SOD1 T>C	21	33040860	33040860	T	C	SOD1	c.434T>C	NM_000454.4	NP_000445.1:p.(Leu145Ser)	NC_000021.8:g.33040860T>C	(Likely) pathogenic	1 lab	7587a2bd5e
14:102898308 TECPR2 C>T	14	102898308	102898308	C	T	TECPR2	c.1260C>T	NM_014844.5	NP_055659.2:p.(Ser420=)	NC_000014.8:g.102898308C>T	(Likely) benign	1 lab	758dd4ef8e
12:52180495 SCN8A A>G	12	52180495	52180495	A	G	SCN8A	c.4112A>G	NM_014191.4	NP_055006.1:p.(Asn1371Ser)	NC_000012.11:g.52180495A>G	(Likely) benign	1 lab	75907816fa
10:102568808 PAX2 C>T	10	102568808	102568808	C	T	PAX2	c.793-59C>T	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102568808C>T	(Likely) benign	1 lab	7593cc0cda
7:73481096 ELN C>T	7	73481096	73481096	C	T	ELN	c.2307C>T	NM_001278939.1	NP_001265868.1:p.(Pro769=)	NC_000007.13:g.73481096C>T	(Likely) benign	1 lab	75942c81db
17:42328920 SLC4A1 A>T	17	42328920	42328920	A	T	SLC4A1	c.2348T>A	NM_000342.4	NP_000333.1:p.(Ile783Asn)	NC_000017.10:g.42328920A>T	(Likely) pathogenic	1 lab	75972a8f05
6:2890560 SERPINB9 T>C	6	2890560	2890560	T	C	SERPINB9	c.968A>G	NM_004155.6	NP_004146.1:p.(Asn323Ser)	NC_000006.11:g.2890560T>C	VUS	1 lab	75a18fe3e0
9:135863587 GFI1B G>T	9	135863587	135863587	G	T	GFI1B	c.242G>T	NM_004188.5	NP_004179.3:p.(Gly81Val)	NC_000009.11:g.135863587G>T	(Likely) benign	1 lab	75a1caac03
13:39452545 FREM2 A>G	13	39452545	39452545	A	G	FREM2	c.8859+87A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452545A>G	(Likely) benign	1 lab	75a8e2ae7a
17:17700111 RAI1 G>A	17	17700111	17700111	G	A	RAI1	c.3849G>A	NM_030665.4	NP_109590.3:p.(Lys1283=)	NC_000017.10:g.17700111G>A	(Likely) benign	1 lab	75aba1191a
6:53135537 ELOVL5 G>A	6	53135537	53135537	G	A	ELOVL5	c.622-12C>T	NM_021814.5	NP_068586.1:p.?	NC_000006.11:g.53135537G>A	(Likely) benign	1 lab	75afe0f563
2:216274853 FN1 A>AACAC	2	216274853	216274875	A	AACAC	FN1	c.1942-20_1942-17dup	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216274872_216274875dup	(Likely) benign	1 lab	75b53c1773
1:33476273 AK2 T>C	1	33476273	33476273	T	C	AK2	n.816A>G	NR_134976.2		NC_000001.10:g.33476273T>C	(Likely) benign	1 lab	75b8152f42
19:6848096 VAV1 G>A	19	6848096	6848096	G	A	VAV1	c.2100G>A	NM_005428.4	NP_005419.2:p.(Lys700=)	NC_000019.9:g.6848096G>A	(Likely) benign	1 lab	75bb34224a
X:154159951 F8 C>A	X	154159951	154159951	C	A	F8	c.2114G>T	NM_000132.3	NP_000123.1:p.(Gly705Val)	NC_000023.10:g.154159951C>A	(Likely) pathogenic	1 lab	75bdb53dd5
3:38608058 SCN5A A>G	3	38608058	38608058	A	G	SCN5A	c.3682T>C	NM_198056.2	NP_932173.1:p.(Tyr1228His)	NC_000003.11:g.38608058A>G	(Likely) pathogenic	1 lab	75bf00484c
6:47541954 CD2AP C>T	6	47541954	47541954	C	T	CD2AP	c.696C>T	NM_012120.3	NP_036252.1:p.(Ser232=)	NC_000006.11:g.47541954C>T	(Likely) benign	1 lab	75bfb3358b
17:45363761 ITGB3 T>A	17	45363761	45363761	T	A	ITGB3	c.750T>A	NM_000212.2	NP_000203.2:p.(Asp250Glu)	NC_000017.10:g.45363761T>A	(Likely) pathogenic	1 lab	75c70ae2eb
2:179403990 TTN A>G	2	179403990	179403990	A	G	TTN	c.98684-12T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179403990A>G	(Likely) benign	1 lab	75c779e3a7
19:13325229 CACNA1A G>C	19	13325229	13325229	G	C	CACNA1A	c.5858-82C>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325229G>C	(Likely) benign	1 lab	765e4c90a4
2:109381721 RANBP2 A>T	2	109381721	109381721	A	T	RANBP2	c.4726A>T	NM_006267.4	NP_006258.3:p.(Thr1576Ser)	NC_000002.11:g.109381721A>T	(Likely) benign	1 lab	75c9131af3
4:151753134 LRBA A>T	4	151753134	151753134	A	T	LRBA	c.4570-6T>A	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151753134A>T	(Likely) benign	1 lab	75cc02688c
12:88496576 CEP290 T>C	12	88496576	88496576	T	C	CEP290	c.2991+39A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88496576T>C	(Likely) benign	1 lab	75cd350e7b
4:501347 PIGG G>A	4	501347	501347	G	A	PIGG	c.724G>A	NM_001127178.3	NP_001120650.1:p.(Val242Met)	NC_000004.11:g.501347G>A	(Likely) benign	1 lab	75d06e61ef
2:166166958 SCN2A C>T	2	166166958	166166958	C	T	SCN2A	c.823C>T	NM_021007.3	NP_066287.2:p.(Arg275Ter)	NC_000002.11:g.166166958C>T	(Likely) pathogenic	1 lab	75d169a675
12:110029106 MVK C>T	12	110029106	110029106	C	T	MVK	c.829C>T	NM_000431.2	NP_000422.1:p.(Arg277Cys)	NC_000012.11:g.110029106C>T	(Likely) pathogenic	1 lab	75d8d880ce
4:95377601 PDLIM5 G>A	4	95377601	95377601	G	A	PDLIM5	c.303G>A	NM_001256429.2	NP_001243358.1:p.(Ser101=)	NC_000004.11:g.95377601G>A	(Likely) benign	1 lab	75dcabd0c2
14:65234100 SPTB G>A	14	65234100	65234100	G	A	SPTB	c.6220-30C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234100G>A	(Likely) benign	1 lab	75ddab1010
19:55451083 NLRP7 A>G	19	55451083	55451083	A	G	NLRP7	c.1104T>C	NM_001127255.1	NP_001120727.1:p.(Ile368=)	NC_000019.9:g.55451083A>G	(Likely) benign	1 lab	75e1c4aede
5:45645408 HCN1 A>C	5	45645408	45645408	A	C	HCN1	c.728T>G	NM_021072.4	NP_066550.2:p.(Met243Arg)	NC_000005.9:g.45645408A>C	(Likely) pathogenic	1 lab	75e45f8224
19:45899578 PPP1R13L C>T	19	45899578	45899578	C	T	PPP1R13L	c.811+18G>A	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45899578C>T	(Likely) benign	1 lab	75e72618ec
13:39454843 FREM2 G>A	13	39454843	39454843	G	A	FREM2	c.9429G>A	NM_207361.6	NP_997244.4:p.(Gly3143=)	NC_000013.10:g.39454843G>A	(Likely) benign	1 lab	75e7f5f21f
4:86950543 MAPK10 A>G	4	86950543	86950543	A	G	MAPK10	c.1175-116T>C	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.86950543A>G	(Likely) benign	1 lab	75e8862012
6:7583454 DSP G>A	6	7583454	7583454	G	A	DSP	c.5959G>A	NM_004415.2	NP_004406.2:p.(Asp1987Asn)	NC_000006.11:g.7583454G>A	VUS	1 lab	75ed0c3d5e
9:35059095 VCP C>T	9	35059095	35059095	C	T	VCP	c.2126G>A	NM_007126.3	NP_009057.1:p.(Arg709Gln)	NC_000009.11:g.35059095C>T	(Likely) benign	1 lab	75f3d59aeb
1:247587547 NLRP3 A>C	1	247587547	247587547	A	C	NLRP3	c.796A>C	NM_001243133.2	NP_001230062.1:p.(Thr266Pro)	NC_000001.10:g.247587547A>C	VUS	1 lab	75f8badfea
21:46330302 ITGB2 C>T	21	46330302	46330302	C	T	ITGB2	c.59-15G>A	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46330302C>T	(Likely) benign	1 lab	75f9c67415
16:20357488 UMOD A>G	16	20357488	20357488	A	G	UMOD	c.1142T>C	NM_003361.3	NP_003352.2:p.(Val381Ala)	NC_000016.9:g.20357488A>G	VUS	1 lab	75fbd8746a
12:110032922 MVK C>T	12	110032922	110032922	C	T	MVK	c.975C>T	NM_000431.2	NP_000422.1:p.(Arg325=)	NC_000012.11:g.110032922C>T	(Likely) benign	1 lab	75feebccf5
1:237791371 RYR2 G>A	1	237791371	237791371	G	A	RYR2	c.6431G>A	NM_001035.3	NP_001026.2:p.(Arg2144His)	NC_000001.10:g.237791371G>A	VUS	1 lab	75ff38b077
14:29236988 FOXG1 G>C	14	29236988	29236988	G	C	FOXG1	c.503G>C	NM_005249.5	NP_005240.3:p.(Gly168Ala)	NC_000014.8:g.29236988G>C	(Likely) benign	1 lab	7600fc8f42
2:47300930 TTC7A G>A	2	47300930	47300930	G	A	TTC7A	c.2445G>A	NM_020458.4	NP_065191.2:p.(Ala815=)	NC_000002.11:g.47300930G>A	(Likely) benign	1 lab	7603e773cc
14:45628283 FANCM TTA>T	14	45628283	45628297	TTA	T	FANCM	c.1397-3_1397-2del	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45628296_45628297del	(Likely) benign	1 lab	7604021bf8
16:46781887 MYLK3 C>T	16	46781887	46781887	C	T	MYLK3	c.219G>A	NM_182493.3	NP_872299.2:p.(Pro73=)	NC_000016.9:g.46781887C>T	(Likely) benign	1 lab	76087f63d6
4:39257671 WDR19 T>C	4	39257671	39257671	T	C	WDR19	c.3114+91T>C	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39257671T>C	(Likely) benign	1 lab	760d78de8a
11:128781799 KCNJ5 C>T	11	128781799	128781799	C	T	KCNJ5	c.631C>T	NM_000890.3	NP_000881.3:p.(Arg211Trp)	NC_000011.9:g.128781799C>T	(Likely) pathogenic	1 lab	76133e52d3
2:169826611 ABCB11 C>T	2	169826611	169826611	C	T	ABCB11	c.1753G>A	NM_003742.4	NP_003733.2:p.(Ala585Thr)	NC_000002.11:g.169826611C>T	(Likely) pathogenic	1 lab	761d7382d2
8:102555655 GRHL2 C>T	8	102555655	102555655	C	T	GRHL2	c.207C>T	NM_024915.4	NP_079191.2:p.(Asp69=)	NC_000008.10:g.102555655C>T	(Likely) benign	1 lab	761dc38bf1
3:194126697 ATP13A3 T>C	3	194126697	194126697	T	C	ATP13A3	c.3632A>G	NM_024524.4	NP_078800.3:p.(Lys1211Arg)	NC_000003.11:g.194126697T>C	VUS	1 lab	d1b448333e
1:196643101 CFH T>C	1	196643101	196643101	T	C	CFH	c.350+9T>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196643101T>C	(Likely) benign	1 lab	76236c5266
10:78737521 KCNMA1 A>G	10	78737521	78737521	A	G	KCNMA1	c.2105-7696T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78737521A>G	(Likely) benign	1 lab	762957813f
5:176941781 DDX41 C>G	5	176941781	176941781	C	G	DDX41	c.856G>C	NM_016222.4	NP_057306.2:p.(Glu286Gln)	NC_000005.9:g.176941781C>G	(Likely) benign	1 lab	762b34010a
16:1962004 HS3ST6 C>A	16	1962004	1962004	C	A	HS3ST6	c.616G>T	NM_001009606.4	NP_001009606.3:p.(Ala206Ser)	NC_000016.9:g.1962004C>A	(Likely) benign	1 lab	762c713ac3
3:9974344 IL17RC T>C	3	9974344	9974344	T	C	IL17RC	c.1653T>C	NM_153461.4	NP_703191.2:p.(Ala551=)	NC_000003.11:g.9974344T>C	(Likely) benign	1 lab	762ce1b892
2:179413914 TTN A>G	2	179413914	179413914	A	G	TTN	c.92439T>C	NM_001267550.1	NP_001254479.1:p.(Ile30813=)	NC_000002.11:g.179413914A>G	(Likely) benign	1 lab	762fb7ab28
9:14857518 FREM1 C>G	9	14857518	14857518	C	G	FREM1	c.828+33G>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14857518C>G	(Likely) benign	1 lab	76310aa650
9:21334172 KLHL9 C>G	9	21334172	21334172	C	G	KLHL9	c.687G>C	NM_018847.4	NP_061335.1:p.(Arg229=)	NC_000009.11:g.21334172C>G	(Likely) benign	1 lab	76358e6cba
20:62065215 KCNQ2 G>C	20	62065215	62065215	G	C	KCNQ2	c.1065C>G	NM_172107.4	NP_742105.1:p.(Asp355Glu)	NC_000020.10:g.62065215G>C	(Likely) pathogenic	1 lab	763803c6c7
20:47990904 KCNB1 C>A	20	47990904	47990904	C	A	KCNB1	c.1193G>T	NM_004975.4	NP_004966.1:p.(Cys398Phe)	NC_000020.10:g.47990904C>A	(Likely) pathogenic	1 lab	7638a4a32e
12:110234515 TRPV4 C>A	12	110234515	110234515	C	A	TRPV4	c.1153-6G>T	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110234515C>A	(Likely) benign	1 lab	763d04f60d
16:67692486 ACD G>A	16	67692486	67692486	G	A	ACD	c.801C>T	NM_001082486.2	NP_001075955.2:p.(Ala267=)	NC_000016.9:g.67692486G>A	(Likely) benign	1 lab	763e38965f
15:66996010 SMAD6 C>T	15	66996010	66996010	C	T	SMAD6	c.414C>T	NM_005585.5	NP_005576.3:p.(Pro138=)	NC_000015.9:g.66996010C>T	(Likely) benign	1 lab	764918dc7a
6:32557435 HLA-DRB1 A>C	6	32557435	32557435	A	C	HLA-DRB1	c.85T>G	NM_002124.4	NP_002115.2:p.(Ser29Ala)	NC_000006.11:g.32557435A>C	(Likely) benign	1 lab	d1b5c8d43d
19:17949188 JAK3 G>A	19	17949188	17949188	G	A	JAK3	c.1453C>T	NM_000215.3	NP_000206.2:p.(Leu485=)	NC_000019.9:g.17949188G>A	(Likely) benign	1 lab	764ddb84da
3:39229781 XIRP1 C>T	3	39229781	39229781	C	T	XIRP1	c.1156G>A	NM_194293.4	NP_919269.2:p.(Glu386Lys)	NC_000003.11:g.39229781C>T	(Likely) benign	1 lab	76502f1df9
11:63987039 FERMT3 C>T	11	63987039	63987039	C	T	FERMT3	c.938C>T	NM_031471.6	NP_113659.3:p.(Pro313Leu)	NC_000011.9:g.63987039C>T	(Likely) benign	1 lab	76520c9b10
5:14397277 TRIO C>T	5	14397277	14397277	C	T	TRIO	c.4423+14C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14397277C>T	(Likely) benign	1 lab	76577254b2
X:1424324 CSF2RA TTC>T	X	1424324	1424329	TTC	T	CSF2RA	c.1044-11_1044-10del	NM_172245.4	NP_758448.1:p.?	NC_000023.10:g.1424328_1424329del	(Likely) benign	1 lab	765d57cd56
X:41446142 CASK A>G	X	41446142	41446142	A	G	CASK	c.1314+18T>C	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41446142A>G	(Likely) benign	1 lab	765e05abaa
1:196706200 CFH C>T	1	196706200	196706200	C	T	CFH	c.2596+64C>T	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196706200C>T	(Likely) benign	1 lab	7662b9aed2
16:2153704 PKD1 C>T	16	2153704	2153704	C	T	PKD1	c.8354G>A	NM_001009944.2	NP_001009944.2:p.(Gly2785Asp)	NC_000016.9:g.2153704C>T	(Likely) pathogenic	1 lab	76635c7751
1:43908300 SZT2 C>T	1	43908300	43908300	C	T	SZT2	c.7980+11C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43908300C>T	(Likely) benign	1 lab	76669f6975
2:216256461 FN1 T>C	2	216256461	216256461	T	C	FN1	c.4146A>G	NM_212482.2	NP_997647.1:p.(Pro1382=)	NC_000002.11:g.216256461T>C	(Likely) benign	1 lab	766beff55b
X:100104355 NOX1 T>C	X	100104355	100104355	T	C	NOX1	c.1357A>G	NM_007052.5	NP_008983.2:p.(Thr453Ala)	NC_000023.10:g.100104355T>C	(Likely) benign	1 lab	7674105612
6:52101758 IL17F C>T	6	52101758	52101758	C	T	IL17F	c.463G>A	NM_052872.3	NP_443104.1:p.(Val155Ile)	NC_000006.11:g.52101758C>T	(Likely) benign	1 lab	7676c1fa23
3:15677059 BTD A>G	3	15677059	15677059	A	G	BTD	c.113A>G	NM_001281723.3	NP_001268652.2:p.(Tyr38Cys)	NC_000003.11:g.15677059A>G	(Likely) pathogenic	1 lab	7679387c99
10:90773930 FAS A>C	10	90773930	90773930	A	C	FAS	c.731A>C	NM_000043.4	NP_000034.1:p.(Gln244Pro)	NC_000010.10:g.90773930A>C	VUS	1 lab	76884c2f62
1:228447490 OBSCN G>A	1	228447490	228447490	G	A	OBSCN	c.5137+13G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228447490G>A	(Likely) benign	1 lab	768b12aa4a
12:52309186 ACVRL1 T>G	12	52309186	52309186	T	G	ACVRL1	c.950T>G	NM_000020.2	NP_000011.2:p.(Ile317Ser)	NC_000012.11:g.52309186T>G	(Likely) pathogenic	1 lab	768e3b12bd
3:64143135 PRICKLE2 C>T	3	64143135	64143135	C	T	PRICKLE2	c.397-94G>A	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64143135C>T	(Likely) benign	1 lab	768fad46b3
11:111707031 ALG9 A>G	11	111707031	111707031	A	G	ALG9	c.960-14T>C	NM_001077691.2	NP_001071159.1:p.?	NC_000011.9:g.111707031A>G	(Likely) benign	1 lab	76959f38d0
20:33057974 ITCH CT>C	20	33057974	33057977	CT	C	ITCH	c.1497+52del	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33057977del	(Likely) benign	1 lab	76964932f7
1:247588469 NLRP3 T>C	1	247588469	247588469	T	C	NLRP3	c.1718T>C	NM_001243133.2	NP_001230062.1:p.(Phe573Ser)	NC_000001.10:g.247588469T>C	(Likely) pathogenic	1 lab	7696ca56fb
5:125928876 ALDH7A1 A>T	5	125928876	125928876	A	T	ALDH7A1	c.246+167T>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125928876A>T	(Likely) benign	1 lab	769ff63326
X:148577974 IDS G>C	X	148577974	148577974	G	C	IDS	c.782C>G	NM_000202.8	NP_000193.1:p.(Pro261Arg)	NC_000023.10:g.148577974G>C	(Likely) benign	1 lab	d1bbe241ca
4:120079220 MYOZ2 T>C	4	120079220	120079220	T	C	MYOZ2	c.290T>C	NM_016599.5	NP_057683.1:p.(Leu97Ser)	NC_000004.11:g.120079220T>C	(Likely) benign	1 lab	d1c62ea0f6
2:32476522 NLRC4 A>C	2	32476522	32476522	A	C	NLRC4	c.411T>G	NM_021209.4	NP_067032.3:p.(Pro137=)	NC_000002.11:g.32476522A>C	(Likely) benign	1 lab	76ab26039c
X:123504176 SH2D1A A>T	X	123504176	123504176	A	T	SH2D1A	c.346+6A>T	NM_002351.4	NP_002342.1:p.?	NC_000023.10:g.123504176A>T	(Likely) benign	1 lab	76ac8cd215
2:63631355 WDPCP T>G	2	63631355	63631355	T	G	WDPCP	c.1263A>C	NM_015910.7	NP_056994.3:p.(Leu421Phe)	NC_000002.11:g.63631355T>G	(Likely) benign	1 lab	76ae790cb0
18:52922007 TCF4 C>T	18	52922007	52922007	C	T	TCF4	c.1147-76G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52922007C>T	(Likely) benign	1 lab	76b32d15bf
7:130041638 CEP41 T>C	7	130041638	130041638	T	C	CEP41	c.642+84A>G	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130041638T>C	(Likely) benign	1 lab	76bdd6ddfb
7:151254309 PRKAG2 T>G	7	151254309	151254309	T	G	PRKAG2	c.1688A>C	NM_016203.4	NP_057287.2:p.(Gln563Pro)	NC_000007.13:g.151254309T>G	(Likely) benign	1 lab	76c7fd5022
11:20623156 SLC6A5 C>G	11	20623156	20623156	C	G	SLC6A5	c.485C>G	NM_004211.5	NP_004202.4:p.(Ala162Gly)	NC_000011.9:g.20623156C>G	(Likely) benign	1 lab	d1c7e40ae0
12:111066667 TCTN1 G>T	12	111066667	111066667	G	T	TCTN1	c.568G>T	NM_001082538.3	NP_001076007.1:p.(Glu190Ter)	NC_000012.11:g.111066667G>T	(Likely) pathogenic	1 lab	76ced11de3
20:60937438 LAMA5 G>A	20	60937438	60937438	G	A	LAMA5	c.450+18C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60937438G>A	(Likely) benign	1 lab	76cefe98a6
19:35523555 SCN1B C>A	19	35523555	35523555	C	A	SCN1B	c.164C>A	NM_001037.5	NP_001028.1:p.(Thr55Asn)	NC_000019.9:g.35523555C>A	(Likely) pathogenic	1 lab	76d1a5dc4c
16:8862087 ABAT T>C	16	8862087	8862087	T	C	ABAT	c.641T>C	NM_020686.6	NP_065737.2:p.(Met214Thr)	NC_000016.9:g.8862087T>C	(Likely) benign	1 lab	76d1b35171
12:98927992 TMPO C>T	12	98927992	98927992	C	T	TMPO	c.1957C>T	NM_003276.2	NP_003267.1:p.(Leu653Phe)	NC_000012.11:g.98927992C>T	(Likely) benign	1 lab	76d23fe18b
9:77418794 TRPM6 T>C	9	77418794	77418794	T	C	TRPM6	c.1647A>G	NM_017662.5	NP_060132.3:p.(Arg549=)	NC_000009.11:g.77418794T>C	(Likely) benign	1 lab	76d45afcc5
4:78989939 FRAS1 G>A	4	78989939	78989939	G	A	FRAS1	c.108+2769G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78989939G>A	(Likely) benign	1 lab	76d57c50e0
7:6042257 PMS2 T>G	7	6042257	6042257	T	G	PMS2	c.55A>C	NM_001322015.2	NP_001308944.1:p.(Ile19Leu)	NC_000007.13:g.6042257T>G	VUS	1 lab	76d596f419
14:64467403 SYNE2 A>C	14	64467403	64467403	A	C	SYNE2	c.3604A>C	NM_182914.2	NP_878918.2:p.(Arg1202=)	NC_000014.8:g.64467403A>C	(Likely) benign	1 lab	76d6c3270b
11:65488161 RNASEH2C G>A	11	65488161	65488161	G	A	RNASEH2C	c.69C>T	NM_032193.3	NP_115569.2:p.(Asp23=)	NC_000011.9:g.65488161G>A	(Likely) benign	1 lab	76d75bf913
5:127607688 FBN2 C>A	5	127607688	127607688	C	A	FBN2	c.7960+3G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127607688C>A	VUS	1 lab	76d7d1fa92
16:3306393 MEFV G>A	16	3306393	3306393	G	A	MEFV	c.195C>T	NM_000243.2	NP_000234.1:p.(Tyr65=)	NC_000016.9:g.3306393G>A	(Likely) benign	1 lab	76dd80625b
20:49562261 DPM1 A>G	20	49562261	49562261	A	G	DPM1	c.398+13T>C	NM_001317034.1	NP_001303963.1:p.?	NC_000020.10:g.49562261A>G	(Likely) benign	1 lab	76df8ebb45
X:103042852 PLP1 C>T	X	103042852	103042852	C	T	PLP1	c.579C>T	NM_000533.5	NP_000524.3:p.(Thr193=)	NC_000023.10:g.103042852C>T	(Likely) benign	1 lab	76e0d114a4
2:202633723 ALS2 AT>A	2	202633723	202633725	AT	A	ALS2	c.-60-56del	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202633725del	(Likely) benign	1 lab	76e242fc9a
17:18148884 FLII T>A	17	18148884	18148884	T	A	FLII	c.3561A>T	NM_001256264.2	NP_001243193.1:p.(Leu1187=)	NC_000017.10:g.18148884T>A	(Likely) benign	1 lab	76e5a7d9b7
2:211507277 CPS1 C>T	2	211507277	211507277	C	T	CPS1	c.3029C>T	NM_001875.4	NP_001866.2:p.(Thr1010Met)	NC_000002.11:g.211507277C>T	(Likely) benign	1 lab	76e79fb2c3
17:45331299 ITGB3 C>T	17	45331299	45331299	C	T	ITGB3	c.72C>T	NM_000212.2	NP_000203.2:p.(Gly24=)	NC_000017.10:g.45331299C>T	(Likely) benign	1 lab	76e963dd82
16:2144181 PKD1 C>T	16	2144181	2144181	C	T	PKD1	c.10530G>A	NM_001009944.2	NP_001009944.2:p.(Thr3510=)	NC_000016.9:g.2144181C>T	(Likely) benign	1 lab	76ec4cc680
1:183536345 NCF2 G>A	1	183536345	183536345	G	A	NCF2	c.849C>T	NM_000433.3	NP_000424.2:p.(Asn283=)	NC_000001.10:g.183536345G>A	(Likely) benign	1 lab	76eec1888f
10:96012267 PLCE1 T>C	10	96012267	96012267	T	C	PLCE1	c.3279+12T>C	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96012267T>C	(Likely) benign	1 lab	76eef155cc
18:52943165 TCF4 A>T	18	52943165	52943165	A	T	TCF4	c.656-182T>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52943165A>T	(Likely) benign	1 lab	76ef2d3ada
15:27018187 GABRB3 TGCC>T	15	27018187	27018210	TGCC	T	GABRB3	c.-81_-79del	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.27018208_27018210del	(Likely) benign	1 lab	76f1e4e7fd
4:79207712 FRAS1 A>G	4	79207712	79207712	A	G	FRAS1	c.1534+19A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79207712A>G	(Likely) benign	1 lab	76f4fc6b39
9:138649240 KCNT1 G>A	9	138649240	138649240	G	A	KCNT1	c.759+13G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138649240G>A	(Likely) benign	1 lab	76f59c1805
9:14806902 FREM1 G>A	9	14806902	14806902	G	A	FREM1	c.3089-58C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14806902G>A	(Likely) benign	1 lab	76fae44c78
16:69727242 NFAT5 A>G	16	69727242	69727242	A	G	NFAT5	c.3232A>G	NM_138714.4	NP_619728.2:p.(Thr1078Ala)	NC_000016.9:g.69727242A>G	(Likely) benign	1 lab	76fe46fa8b
4:79462278 FRAS1 A>G	4	79462278	79462278	A	G	FRAS1	c.12039A>G	NM_025074.7	NP_079350.5:p.(Ter4013=)	NC_000004.11:g.79462278A>G	(Likely) benign	1 lab	770018e0ed
8:145743032 RECQL4 C>A	8	145743032	145743032	C	A	RECQL4	c.85-13G>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145743032C>A	(Likely) benign	1 lab	7700877157
4:5710255 EVC2 C>T	4	5710255	5710255	C	T	EVC2	c.-15G>A	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5710255C>T	(Likely) benign	1 lab	77008c4970
10:81371164 SFTPA1 A>G	10	81371164	81371164	A	G	SFTPA1	c.-24+19A>G	NM_005411.5	NP_005402.3:p.?	NC_000010.10:g.81371164A>G	(Likely) benign	1 lab	7700c791bc
9:126137601 CRB2 C>T	9	126137601	126137601	C	T	CRB2	c.3612C>T	NM_173689.7	NP_775960.4:p.(Ser1204=)	NC_000009.11:g.126137601C>T	(Likely) benign	1 lab	7704612872
17:48070878 DLX3 C>T	17	48070878	48070878	C	T	DLX3	c.402G>A	NM_005220.2	NP_005211.1:p.(Thr134=)	NC_000017.10:g.48070878C>T	(Likely) benign	1 lab	7708313417
10:112583227 RBM20 A>C	10	112583227	112583227	A	C	RBM20	c.3317-11A>C	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112583227A>C	VUS	1 lab	770bba4ec9
9:127265462 NR5A1 T>C	9	127265462	127265462	T	C	NR5A1	c.140A>G	NM_004959.5	NP_004950.2:p.(Tyr47Cys)	NC_000009.11:g.127265462T>C	VUS	1 lab	77156317cb
5:10992766 CTNND2 A>G	5	10992766	10992766	A	G	CTNND2	c.3108T>C	NM_001332.4	NP_001323.1:p.(Phe1036=)	NC_000005.9:g.10992766A>G	(Likely) benign	1 lab	7716221166
9:32466278 RIGI G>A	9	32466278	32466278	G	A	RIGI	c.2337+10C>T	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32466278G>A	(Likely) benign	1 lab	77529940d6
9:139391284 NOTCH1 T>C	9	139391284	139391284	T	C	NOTCH1	c.6907A>G	NM_017617.5	NP_060087.3:p.(Ser2303Gly)	NC_000009.11:g.139391284T>C	(Likely) benign	1 lab	771be7223d
14:102500298 DYNC1H1 C>T	14	102500298	102500298	C	T	DYNC1H1	c.10414-15C>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102500298C>T	(Likely) benign	1 lab	77212aa596
6:83861238 PGM3 C>T	6	83861238	83861238	C	T	PGM3	n.2379G>A	NR_159812.2		NC_000006.11:g.83861238C>T	(Likely) benign	1 lab	77237189c7
12:33031341 PKP2 C>A	12	33031341	33031341	C	A	PKP2	c.473G>T	NM_004572.3	NP_004563.2:p.(Arg158Met)	NC_000012.11:g.33031341C>A	VUS	1 lab	7724f810a5
11:64572506 MEN1 C>G	11	64572506	64572506	C	G	MEN1	c.1365G>C	NM_000244.3	NP_000235.2:p.(Gln455His)	NC_000011.9:g.64572506C>G	(Likely) pathogenic	1 lab	77286ed520
11:118922782 HYOU1 G>A	11	118922782	118922782	G	A	HYOU1	c.1205+20C>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118922782G>A	(Likely) benign	1 lab	772a02f175
17:18151078 FLII G>A	17	18151078	18151078	G	A	FLII	c.2347C>T	NM_001256264.2	NP_001243193.1:p.(Arg783Cys)	NC_000017.10:g.18151078G>A	VUS	1 lab	772b91c59c
3:49158763 LAMB2 C>T	3	49158763	49158763	C	T	LAMB2	c.5293G>A	NM_002292.4	NP_002283.3:p.(Ala1765Thr)	NC_000003.11:g.49158763C>T	(Likely) benign	1 lab	77353d10ff
7:111629111 DOCK4 G>A	7	111629111	111629111	G	A	DOCK4	c.423C>T	NM_014705.4	NP_055520.3:p.(Asp141=)	NC_000007.13:g.111629111G>A	(Likely) benign	1 lab	77370da2ad
11:101323814 TRPC6 C>T	11	101323814	101323814	C	T	TRPC6	c.2668G>A	NM_004621.6	NP_004612.2:p.(Asp890Asn)	NC_000011.9:g.101323814C>T	(Likely) pathogenic	1 lab	7748c9f9ec
14:65249052 SPTB C>G	14	65249052	65249052	C	G	SPTB	c.4222G>C	NM_001024858.3	NP_001020029.1:p.(Gly1408Arg)	NC_000014.8:g.65249052C>G	(Likely) benign	1 lab	774b018060
17:75277637 SEPTIN9 GT>G	17	75277637	75277638	GT	G	SEPTIN9	c.19+2del	NM_001113491.2	NP_001106963.1:p.?	NC_000017.10:g.75277638del	VUS	1 lab	774dfffc8d
X:13781853 OFD1 G>A	X	13781853	13781853	G	A	OFD1	c.2489-11G>A	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13781853G>A	(Likely) benign	1 lab	7750f4536d
21:45712867 AIRE G>C	21	45712867	45712867	G	C	AIRE				NC_000021.8:g.45712867G>C	(Likely) benign	1 lab	7b49c602b4
4:186456535 PDLIM3 T>C	4	186456535	186456535	T	C	PDLIM3	c.54A>G	NM_014476.6	NP_055291.2:p.(Ser18=)	NC_000004.11:g.186456535T>C	(Likely) benign	1 lab	7753a56da4
5:39341377 C9 C>T	5	39341377	39341377	C	T	C9	c.347G>A	NM_001737.3	NP_001728.1:p.(Arg116Gln)	NC_000005.9:g.39341377C>T	(Likely) benign	1 lab	7756f2c49a
6:111884150 TRAF3IP2 GTTTC>G	6	111884150	111884157	GTTTC	G	TRAF3IP2	c.1551+14_1551+17del	NM_147686.4	NP_679211.2:p.?	NC_000006.11:g.111884154_111884157del	(Likely) benign	1 lab	775d21c64c
14:65260543 SPTB C>A	14	65260543	65260543	C	A	SPTB	c.1838G>T	NM_001024858.3	NP_001020029.1:p.(Ser613Ile)	NC_000014.8:g.65260543C>A	(Likely) benign	1 lab	775dcb3372
4:79258876 FRAS1 G>T	4	79258876	79258876	G	T	FRAS1	c.2327G>T	NM_025074.7	NP_079350.5:p.(Cys776Phe)	NC_000004.11:g.79258876G>T	VUS	1 lab	7760b43ed4
9:93637006 SYK C>T	9	93637006	93637006	C	T	SYK	c.1056C>T	NM_003177.7	NP_003168.2:p.(Tyr352=)	NC_000009.11:g.93637006C>T	(Likely) benign	1 lab	776854cec8
19:55451050 NLRP7 C>T	19	55451050	55451050	C	T	NLRP7	c.1137G>A	NM_001127255.1	NP_001120727.1:p.(Lys379=)	NC_000019.9:g.55451050C>T	(Likely) benign	1 lab	7769ba6103
2:170103870 LRP2 C>T	2	170103870	170103870	C	T	LRP2	c.2908+18G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170103870C>T	(Likely) benign	1 lab	776a1259ca
16:81904373 PLCG2 A>AT	16	81904373	81904374	A	AT	PLCG2	c.565-84_565-83insT	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81904373_81904374insT	(Likely) benign	1 lab	776e3a3fb6
X:41420904 CASK A>C	X	41420904	41420904	A	C	CASK	c.1583-7T>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41420904A>C	(Likely) benign	1 lab	77738c6af8
13:39266643 FREM2 A>C	13	39266643	39266643	A	C	FREM2	c.5162A>C	NM_207361.6	NP_997244.4:p.(Gln1721Pro)	NC_000013.10:g.39266643A>C	VUS	1 lab	7773b2324e
13:32949382 BRCA2 T>C	13	32949382	32949382	T	C	BRCA2	c.8633-1425T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32949382T>C	(Likely) benign	1 lab	777500fc28
1:247587874 NLRP3 A>G	1	247587874	247587874	A	G	NLRP3	c.1123A>G	NM_001243133.2	NP_001230062.1:p.(Lys375Glu)	NC_000001.10:g.247587874A>G	(Likely) pathogenic	1 lab	7775517f80
16:10626869 EMP2 C>T	16	10626869	10626869	C	T	EMP2	c.397G>A	NM_001424.6	NP_001415.1:p.(Val133Met)	NC_000016.9:g.10626869C>T	(Likely) benign	1 lab	7779948f30
19:36051778 ATP4A G>T	19	36051778	36051778	G	T	ATP4A	c.477C>A	NM_000704.3	NP_000695.2:p.(Tyr159Ter)	NC_000019.9:g.36051778G>T	(Likely) pathogenic	1 lab	777b406aae
13:32910981 BRCA2 A>G	13	32910981	32910981	A	G	BRCA2	c.2489A>G	NM_000059.3	NP_000050.2:p.(Asn830Ser)	NC_000013.10:g.32910981A>G	(Likely) benign	1 lab	777c5edfe4
2:228146991 COL4A3 A>ATAT	2	228146991	228146992	A	ATAT	COL4A3	c.2489-90_2489-89insTAT	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228146991_228146992insTAT	(Likely) benign	1 lab	77823eea9f
4:88973211 PKD2 G>C	4	88973211	88973211	G	C	PKD2	c.1617G>C	NM_000297.4	NP_000288.1:p.(Leu539=)	NC_000004.11:g.88973211G>C	(Likely) benign	1 lab	7782e0bcce
14:20916115 OSGEP T>C	14	20916115	20916115	T	C	OSGEP	c.741A>G	NM_017807.4	NP_060277.1:p.(Arg247=)	NC_000014.8:g.20916115T>C	(Likely) benign	1 lab	778988d5a3
19:54314605 NLRP12 G>A	19	54314605	54314605	G	A	NLRP12	c.371-63C>T	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54314605G>A	(Likely) benign	1 lab	77922b4b65
X:41413185 CASK C>T	X	41413185	41413185	C	T	CASK	c.1843-17G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41413185C>T	(Likely) benign	1 lab	779409f216
1:94511533 ABCA4 G>A	1	94511533	94511533	G	A	ABCA4	c.2918+942C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94511533G>A	(Likely) benign	1 lab	d1d1688085
17:42929818 EFTUD2 G>A	17	42929818	42929818	G	A	EFTUD2	c.2674C>T	NM_001258353.1	NP_001245282.1:p.(Gln892Ter)	NC_000017.10:g.42929818G>A	(Likely) pathogenic	1 lab	77a3a9a7ee
13:32914193 BRCA2 G>A	13	32914193	32914193	G	A	BRCA2	c.5701G>A	NM_000059.3	NP_000050.2:p.(Glu1901Lys)	NC_000013.10:g.32914193G>A	(Likely) benign	1 lab	77aab92c32
X:154128186 F8 T>A	X	154128186	154128186	T	A	F8	c.6228A>T	NM_000132.3	NP_000123.1:p.(Gly2076=)	NC_000023.10:g.154128186T>A	(Likely) pathogenic	1 lab	77ab14930f
6:33631619 ITPR3 C>T	6	33631619	33631619	C	T	ITPR3	c.1110C>T	NM_002224.3	NP_002215.2:p.(Asp370=)	NC_000006.11:g.33631619C>T	(Likely) benign	1 lab	77ac0fb492
2:113885322 IL1RN G>A	2	113885322	113885322	G	A	IL1RN	c.14+5G>A	NM_173843.3	NP_776215.1:p.?	NC_000002.11:g.113885322G>A	(Likely) benign	1 lab	77af8977d2
18:32431801 DTNA C>G	18	32431801	32431801	C	G	DTNA	c.1180C>G	NM_001198939.2	NP_001185868.1:p.(Pro394Ala)	NC_000018.9:g.32431801C>G	(Likely) benign	1 lab	77b0481713
19:42795242 CIC G>A	19	42795242	42795242	G	A	CIC	c.5049G>A	NM_001304815.1	NP_001291744.1:p.(Ala1683=)	NC_000019.9:g.42795242G>A	(Likely) benign	1 lab	77b1bf4256
6:36651971 CDKN1A C>A	6	36651971	36651971	C	A	CDKN1A	c.93C>A	NM_001220778.2	NP_001207707.1:p.(Ser31Arg)	NC_000006.11:g.36651971C>A	(Likely) benign	1 lab	77b1c5d480
15:67457736 SMAD3 C>T	15	67457736	67457736	C	T	SMAD3	c.532+14C>T	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457736C>T	(Likely) benign	1 lab	77b231cc98
2:15415784 NBAS AG>A	2	15415784	15415785	AG	A	NBAS	c.5547del	NM_015909.4	NP_056993.2:p.(Trp1850GlyfsTer32)	NC_000002.11:g.15415785del	(Likely) pathogenic	1 lab	77b31d3be8
1:160168540 CASQ1 G>A	1	160168540	160168540	G	A	CASQ1	c.883+19G>A	NM_001231.5	NP_001222.3:p.?	NC_000001.10:g.160168540G>A	(Likely) benign	1 lab	77d3db9400
14:102510863 DYNC1H1 G>A	14	102510863	102510863	G	A	DYNC1H1	c.12902+35G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102510863G>A	(Likely) benign	1 lab	77b9d3a744
2:241818115 AGXT G>A	2	241818115	241818115	G	A	AGXT	c.1072-16G>A	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241818115G>A	(Likely) benign	1 lab	77bea65918
19:16232508 RAB8A A>G	19	16232508	16232508	A	G	RAB8A	c.186-52A>G	NM_005370.5	NP_005361.2:p.?	NC_000019.9:g.16232508A>G	VUS	1 lab	77bf31c2c7
2:216299497 FN1 G>T	2	216299497	216299497	G	T	FN1	c.199C>A	NM_212482.2	NP_997647.1:p.(Arg67=)	NC_000002.11:g.216299497G>T	(Likely) benign	1 lab	77c03dbf22
22:21336719 LZTR1 C>T	22	21336719	21336719	C	T	LZTR1	c.59C>T	NM_006767.4	NP_006758.2:p.(Ala20Val)	NC_000022.10:g.21336719C>T	VUS	1 lab	d1d186955f
9:104125056 BAAT A>G	9	104125056	104125056	A	G	BAAT	c.911T>C	NM_001701.4	NP_001692.1:p.(Val304Ala)	NC_000009.11:g.104125056A>G	(Likely) benign	1 lab	77ccc3853d
9:71854864 TJP2 A>G	9	71854864	71854864	A	G	TJP2	c.2367A>G	NM_004817.4	NP_004808.2:p.(Ala789=)	NC_000009.11:g.71854864A>G	(Likely) benign	1 lab	77d01ea980
4:79295373 FRAS1 A>C	4	79295373	79295373	A	C	FRAS1	c.3119A>C	NM_025074.7	NP_079350.5:p.(Tyr1040Ser)	NC_000004.11:g.79295373A>C	(Likely) benign	1 lab	77d1383b83
4:88929481 PKD2 G>A	4	88929481	88929481	G	A	PKD2	c.595+1G>A	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88929481G>A	(Likely) pathogenic	1 lab	77d15200b7
8:48811092 PRKDC T>C	8	48811092	48811092	T	C	PRKDC	c.3402A>G	NM_006904.6	NP_008835.5:p.(Leu1134=)	NC_000008.10:g.48811092T>C	(Likely) benign	1 lab	77d29c041e
17:78079305 GAA C>G	17	78079305	78079305	C	G	GAA	c.547-243C>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079305C>G	(Likely) benign	1 lab	77d34db6b3
12:49428669 KMT2D G>A	12	49428669	49428669	G	A	KMT2D	c.10281C>T	NM_003482.3	NP_003473.3:p.(Ala3427=)	NC_000012.11:g.49428669G>A	(Likely) benign	1 lab	77d5547436
1:160264370 COPA C>T	1	160264370	160264370	C	T	COPA	c.2580G>A	NM_004371.4	NP_004362.2:p.(Glu860=)	NC_000001.10:g.160264370C>T	(Likely) benign	1 lab	77d7deb850
14:105172414 INF2 C>T	14	105172414	105172414	C	T	INF2	c.744C>T	NM_022489.3	NP_071934.3:p.(Phe248=)	NC_000014.8:g.105172414C>T	(Likely) benign	1 lab	77dd23cb92
6:152542201 SYNE1 C>G	6	152542201	152542201	C	G	SYNE1	c.21657-20G>C	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152542201C>G	(Likely) benign	1 lab	77deb16af2
6:39835407 DAAM2 T>C	6	39835407	39835407	T	C	DAAM2	c.550T>C	NM_001201427.2	NP_001188356.1:p.(Leu184=)	NC_000006.11:g.39835407T>C	(Likely) benign	1 lab	77e2bde5b9
1:26393883 TRIM63 C>T	1	26393883	26393883	C	T	TRIM63	c.103G>A	NM_032588.3	NP_115977.2:p.(Val35Ile)	NC_000001.10:g.26393883C>T	VUS	1 lab	77e561f765
15:83357946 AP3B2 G>C	15	83357946	83357946	G	C	AP3B2	c.228C>G	NM_001348440.1	NP_001335369.1:p.(Pro76=)	NC_000015.9:g.83357946G>C	(Likely) benign	1 lab	77ec4d4649
7:147844679 CNTNAP2 G>A	7	147844679	147844679	G	A	CNTNAP2	c.2651G>A	NM_014141.6	NP_054860.1:p.(Arg884Gln)	NC_000007.13:g.147844679G>A	(Likely) benign	1 lab	77ec655f0e
16:15818515 MYH11 G>A	16	15818515	15818515	G	A	MYH11	c.4126C>T	NM_001040113.2	NP_001035202.1:p.(Leu1376Phe)	NC_000016.9:g.15818515G>A	VUS	1 lab	77ed28404c
20:10633182 JAG1 C>G	20	10633182	10633182	C	G	JAG1	c.820G>C	NM_000214.3	NP_000205.1:p.(Gly274Arg)	NC_000020.10:g.10633182C>G	(Likely) pathogenic	1 lab	77feb87ba5
9:131095733 COQ4 T>C	9	131095733	131095733	T	C	COQ4	c.627-20T>C	NM_016035.4	NP_057119.2:p.?	NC_000009.11:g.131095733T>C	(Likely) benign	1 lab	77fee8bf54
1:22166053 HSPG2 C>T	1	22166053	22166053	C	T	HSPG2	c.9710-10G>A	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22166053C>T	(Likely) benign	1 lab	78018c49c2
X:63411176 AMER1 A>G	X	63411176	63411176	A	G	AMER1	c.1991T>C	NM_152424.4	NP_689637.3:p.(Met664Thr)	NC_000023.10:g.63411176A>G	VUS	1 lab	d1da239706
4:187540610 FAT1 G>A	4	187540610	187540610	G	A	FAT1	c.7130C>T	NM_005245.4	NP_005236.2:p.(Thr2377Met)	NC_000004.11:g.187540610G>A	(Likely) benign	1 lab	780da53f7a
2:113820233 IL36RN C>T	2	113820233	113820233	C	T	IL36RN	c.447C>T	NM_012275.2	NP_036407.1:p.(Phe149=)	NC_000002.11:g.113820233C>T	(Likely) benign	1 lab	780da93ba8
11:67818138 TCIRG1 G>A	11	67818138	67818138	G	A	TCIRG1	c.1520+7G>A	NM_001351059.2	NP_001337988.1:p.?	NC_000011.9:g.67818138G>A	(Likely) benign	1 lab	780de3f2ee
X:31241188 DMD G>A	X	31241188	31241188	G	A	DMD	c.8968C>T	NM_004010.3	NP_004001.1:p.(Arg2990Ter)	NC_000023.10:g.31241188G>A	(Likely) pathogenic	1 lab	780ff2caf1
17:18148508 FLII G>A	17	18148508	18148508	G	A	FLII	c.3721C>T	NM_001256264.2	NP_001243193.1:p.(His1241Tyr)	NC_000017.10:g.18148508G>A	(Likely) benign	1 lab	7813cc5e4c
4:114279509 ANK2 C>T	4	114279509	114279509	C	T	ANK2	c.9735C>T	NM_001148.4	NP_001139.3:p.(Pro3245=)	NC_000004.11:g.114279509C>T	(Likely) benign	1 lab	7818d9ca69
6:32806007 TAP2 G>A	6	32806007	32806007	G	A	TAP2	c.4C>T	NM_000544.3	NP_000535.3:p.(Arg2Trp)	NC_000006.11:g.32806007G>A	(Likely) benign	1 lab	781b57cfd0
15:91352413 BLM T>G	15	91352413	91352413	T	G	BLM	c.3798T>G	NM_000057.2	NP_000048.1:p.(Val1266=)	NC_000015.9:g.91352413T>G	(Likely) benign	1 lab	782251a092
4:186425640 PDLIM3 C>G	4	186425640	186425640	C	G	PDLIM3	c.894G>C	NM_014476.6	NP_055291.2:p.(Gly298=)	NC_000004.11:g.186425640C>G	(Likely) benign	1 lab	78258440f6
2:179425592 TTN G>A	2	179425592	179425592	G	A	TTN	c.85267C>T	NM_001267550.1	NP_001254479.1:p.(Arg28423Ter)	NC_000002.11:g.179425592G>A	(Likely) pathogenic	1 lab	782629e7c8
2:47656917 MSH2 AT>A	2	47656917	47656919	AT	A	MSH2	c.1115del	NM_000251.3	NP_000242.1:p.(Leu372Ter)	NC_000002.11:g.47656919del	(Likely) pathogenic	1 lab	d1dd255582
15:93568008 CHD2 G>A	15	93568008	93568008	G	A	CHD2	c.*73G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93568008G>A	(Likely) benign	1 lab	7838ce2111
1:235937177 LYST G>A	1	235937177	235937177	G	A	LYST	c.5749C>T	NM_000081.3	NP_000072.2:p.(Leu1917=)	NC_000001.10:g.235937177G>A	(Likely) benign	1 lab	7838f88238
2:152584244 NEB G>A	2	152584244	152584244	G	A	NEB	c.255C>T	NM_001271208.1	NP_001258137.1:p.(Tyr85=)	NC_000002.11:g.152584244G>A	(Likely) benign	1 lab	783abe12f1
5:1280286 TERT C>T	5	1280286	1280286	C	T	TERT	c.1937G>A	NM_198253.2	NP_937983.2:p.(Arg646His)	NC_000005.9:g.1280286C>T	(Likely) benign	1 lab	783affcb26
2:220115164 TUBA4A G>A	2	220115164	220115164	G	A	TUBA4A	c.1257C>T	NM_006000.3	NP_005991.1:p.(Ser419=)	NC_000002.11:g.220115164G>A	(Likely) benign	1 lab	783bf9b243
16:2153278 PKD1 G>A	16	2153278	2153278	G	A	PKD1	c.8780C>T	NM_001009944.2	NP_001009944.2:p.(Thr2927Met)	NC_000016.9:g.2153278G>A	(Likely) benign	1 lab	784031660a
18:53131208 TCF4 T>A	18	53131208	53131208	T	A	TCF4	c.207+99A>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53131208T>A	(Likely) benign	1 lab	784fc2733a
2:217281150 SMARCAL1 AC>A	2	217281150	217281158	AC	A	SMARCAL1	c.862+128del	NM_014140.4	NP_054859.2:p.?	NC_000002.11:g.217281158del	(Likely) benign	1 lab	7854e4355f
8:48869906 PRKDC T>C	8	48869906	48869906	T	C	PRKDC	c.231+9A>G	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48869906T>C	(Likely) benign	1 lab	7855e1deb1
9:126133464 CRB2 C>T	9	126133464	126133464	C	T	CRB2	c.2043C>T	NM_173689.7	NP_775960.4:p.(Ser681=)	NC_000009.11:g.126133464C>T	(Likely) benign	1 lab	78562d4075
X:99597079 PCDH19 T>C	X	99597079	99597079	T	C	PCDH19	c.2676-6A>G	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99597079T>C	VUS	1 lab	78568b35f1
12:56092364 ITGA7 T>C	12	56092364	56092364	T	C	ITGA7	c.999-4A>G	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56092364T>C	(Likely) benign	1 lab	785ce322ba
2:166856288 SCN1A T>C	2	166856288	166856288	T	C	SCN1A	c.4285-2A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166856288T>C	(Likely) pathogenic	1 lab	785daafd8c
2:166781242 TTC21B T>TA	2	166781242	166781246	T	TA	TTC21B	c.1387-55dup	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166781246dup	(Likely) benign	1 lab	786092a842
16:31213040 PYCARD C>T	16	31213040	31213040	C	T	PYCARD	c.454G>A	NM_013258.5	NP_037390.2:p.(Glu152Lys)	NC_000016.9:g.31213040C>T	VUS	1 lab	7861cf4fd1
20:32333072 ZNF341 G>A	20	32333072	32333072	G	A	ZNF341	c.306G>A	NM_032819.4	NP_116208.3:p.(Ala102=)	NC_000020.10:g.32333072G>A	(Likely) benign	1 lab	7869a6a94f
2:197105253 HECW2 A>G	2	197105253	197105253	A	G	HECW2	c.3684T>C	NM_020760.4	NP_065811.1:p.(Asp1228=)	NC_000002.11:g.197105253A>G	(Likely) benign	1 lab	786a77fb7a
1:16360071 CLCNKA T>TC	1	16360071	16360079	T	TC	CLCNKA	c.2017-27dup	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16360079dup	(Likely) benign	1 lab	8069319796
16:50745825 NOD2 C>T	16	50745825	50745825	C	T	NOD2	c.2003C>T	NM_022162.1	NP_071445.1:p.(Pro668Leu)	NC_000016.9:g.50745825C>T	(Likely) benign	1 lab	786b4f6a2c
16:2160484 PKD1 G>A	16	2160484	2160484	G	A	PKD1	c.4684C>T	NM_001009944.2	NP_001009944.2:p.(Leu1562=)	NC_000016.9:g.2160484G>A	(Likely) benign	1 lab	786d21b435
6:158538869 SERAC1 CAT>C	6	158538869	158538873	CAT	C	SERAC1	c.1309-18_1309-17del	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158538872_158538873del	(Likely) benign	1 lab	7870e829b3
2:217329407 SMARCAL1 T>C	2	217329407	217329407	T	C	SMARCAL1	c.2141+17T>C	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217329407T>C	(Likely) benign	1 lab	7872ac5281
2:109382143 RANBP2 A>C	2	109382143	109382143	A	C	RANBP2	c.5148A>C	NM_006267.4	NP_006258.3:p.(Gly1716=)	NC_000002.11:g.109382143A>C	(Likely) benign	1 lab	7876890fa2
18:2940729 LPIN2 A>C	18	2940729	2940729	A	C	LPIN2	c.591-19T>G	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2940729A>C	(Likely) benign	1 lab	787c5a113b
7:116418881 MET T>C	7	116418881	116418881	T	C	MET	c.3446T>C	NM_001127500.1	NP_001120972.1:p.(Met1149Thr)	NC_000007.13:g.116418881T>C	(Likely) pathogenic	1 lab	787d152c22
10:98006805 BLNK C>T	10	98006805	98006805	C	T	BLNK	c.48G>A	NM_013314.3	NP_037446.1:p.(Arg16=)	NC_000010.10:g.98006805C>T	(Likely) benign	1 lab	787eac257a
2:167129390 SCN9A A>T	2	167129390	167129390	A	T	SCN9A	c.2842-5T>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167129390A>T	(Likely) benign	1 lab	787ed07311
1:161599571 FCGR3B T>C	1	161599571	161599571	T	C	FCGR3B	c.316A>G	NM_001244753.2	NP_001231682.2:p.(Ile106Val)	NC_000001.10:g.161599571T>C	(Likely) benign	1 lab	7889b887b3
22:17690428 ADA2 C>T	22	17690428	17690428	C	T	ADA2	c.140G>A	NM_001282225.2	NP_001269154.1:p.(Gly47Glu)	NC_000022.10:g.17690428C>T	(Likely) pathogenic	1 lab	788d7c1f6a
19:54312829 NLRP12 A>C	19	54312829	54312829	A	C	NLRP12	c.2072+12T>G	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54312829A>C	(Likely) benign	1 lab	788df3ee0b
5:37158363 CPLANE1 G>A	5	37158363	37158363	G	A	CPLANE1	c.7775C>T	NM_023073.3	NP_075561.3:p.(Pro2592Leu)	NC_000005.9:g.37158363G>A	(Likely) benign	1 lab	789a09372b
15:82824702 RPS17 G>C	15	82824702	82824702	G	C	RPS17				NC_000015.9:g.82824702G>C	(Likely) benign	1 lab	813fa12c4e
X:154088765 F8 A>G	X	154088765	154088765	A	G	F8	c.6842T>C	NM_000132.3	NP_000123.1:p.(Ile2281Thr)	NC_000023.10:g.154088765A>G	(Likely) pathogenic	1 lab	789a42f45e
10:78785456 KCNMA1 C>A	10	78785456	78785456	C	A	KCNMA1	c.1929-241G>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78785456C>A	(Likely) benign	1 lab	789d35b713
2:48026799 MSH6 C>G	2	48026799	48026799	C	G	MSH6	c.1677C>G	NM_000179.2	NP_000170.1:p.(Cys559Trp)	NC_000002.11:g.48026799C>G	(Likely) pathogenic	1 lab	789dd5beae
7:123302052 LMOD2 G>C	7	123302052	123302052	G	C	LMOD2	c.412G>C	NM_207163.3	NP_997046.1:p.(Glu138Gln)	NC_000007.13:g.123302052G>C	(Likely) benign	1 lab	78a80e200b
1:235973426 LYST T>C	1	235973426	235973426	T	C	LYST	c.692A>G	NM_000081.3	NP_000072.2:p.(Gln231Arg)	NC_000001.10:g.235973426T>C	(Likely) benign	1 lab	78a885914b
10:100995263 HPSE2 G>A	10	100995263	100995263	G	A	HPSE2	c.290+7C>T	NM_021828.4	NP_068600.4:p.?	NC_000010.10:g.100995263G>A	(Likely) benign	1 lab	78add6bfb4
1:45974001 MMACHC C>T	1	45974001	45974001	C	T	MMACHC	c.394C>T	NM_015506.2	NP_056321.2:p.(Arg132Ter)	NC_000001.10:g.45974001C>T	(Likely) pathogenic	1 lab	78b295f77d
1:247587194 NLRP3 G>A	1	247587194	247587194	G	A	NLRP3	c.443G>A	NM_001243133.2	NP_001230062.1:p.(Cys148Tyr)	NC_000001.10:g.247587194G>A	VUS	1 lab	78b6418d13
2:216285470 FN1 C>T	2	216285470	216285470	C	T	FN1	c.1601G>A	NM_212482.2	NP_997647.1:p.(Arg534His)	NC_000002.11:g.216285470C>T	(Likely) benign	1 lab	78be744461
14:23902343 MYH7 G>C	14	23902343	23902343	G	C	MYH7	c.295C>G	NM_000257.2	NP_000248.2:p.(Pro99Ala)	NC_000014.8:g.23902343G>C	VUS	1 lab	78c2bdf826
15:38782880 RASGRP1 T>A	15	38782880	38782880	T	A	RASGRP1	c.2269A>T	NM_005739.4	NP_005730.2:p.(Thr757Ser)	NC_000015.9:g.38782880T>A	(Likely) benign	1 lab	78c395f29c
9:334337 DOCK8 A>G	9	334337	334337	A	G	DOCK8	c.1238A>G	NM_203447.3	NP_982272.2:p.(Asn413Ser)	NC_000009.11:g.334337A>G	(Likely) benign	1 lab	78ca9fa89d
12:49437794 KMT2D C>T	12	49437794	49437794	C	T	KMT2D	c.5189-13G>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49437794C>T	(Likely) benign	1 lab	78cdec04fd
15:52659252 MYO5A C>T	15	52659252	52659252	C	T	MYO5A	c.3136G>A	NM_000259.3	NP_000250.3:p.(Val1046Met)	NC_000015.9:g.52659252C>T	(Likely) benign	1 lab	78d2b6ff1c
17:39925711 JUP C>T	17	39925711	39925711	C	T	JUP	c.427G>A	NM_002230.2	NP_002221.1:p.(Ala143Thr)	NC_000017.10:g.39925711C>T	VUS	1 lab	790a857df9
2:179527075 TTN T>G	2	179527075	179527075	T	G	TTN	c.37029A>C	NM_001267550.1	NP_001254479.1:p.(Pro12343=)	NC_000002.11:g.179527075T>G	(Likely) benign	1 lab	78d6773ec5
14:20940526 PNP G>A	14	20940526	20940526	G	A	PNP	c.71G>A	NM_000270.3	NP_000261.2:p.(Arg24Gln)	NC_000014.8:g.20940526G>A	VUS	1 lab	78d6988742
3:39228676 XIRP1 T>G	3	39228676	39228676	T	G	XIRP1	c.2261A>C	NM_194293.4	NP_919269.2:p.(Gln754Pro)	NC_000003.11:g.39228676T>G	(Likely) benign	1 lab	78d9c0c0bb
6:32823994 PSMB9 T>G	6	32823994	32823994	T	G	PSMB9	c.128+12T>G	NM_002800.5	NP_002791.1:p.?	NC_000006.11:g.32823994T>G	(Likely) benign	1 lab	78dafd920f
2:168101379 XIRP2 T>C	2	168101379	168101379	T	C	XIRP2	c.3477T>C	NM_152381.6	NP_689594.4:p.(Gly1159=)	NC_000002.11:g.168101379T>C	(Likely) benign	1 lab	78dd738894
17:78162359 CARD14 C>T	17	78162359	78162359	C	T	CARD14	c.843+16C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78162359C>T	(Likely) benign	1 lab	78de963c84
6:49578701 RHAG G>T	6	49578701	49578701	G	T	RHAG	c.1067+36C>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49578701G>T	(Likely) benign	1 lab	78e462003e
15:57910333 GCOM1 G>A	15	57910333	57910333	G	A	GCOM1	c.265G>A	NM_001018090.6	NP_001018100.1:p.(Val89Met)	NC_000015.9:g.57910333G>A	(Likely) benign	1 lab	78e64a0c70
9:139402831 NOTCH1 CA>C	9	139402831	139402833	CA	C	NOTCH1	c.3177del	NM_017617.5	NP_060087.3:p.(Val1060CysfsTer119)	NC_000009.11:g.139402833del	(Likely) pathogenic	1 lab	78e70384f1
7:140453132 BRAF T>G	7	140453132	140453132	T	G	BRAF	c.1803A>C	NM_004333.4	NP_004324.2:p.(Lys601Asn)	NC_000007.13:g.140453132T>G	(Likely) pathogenic	1 lab	78e71acf4c
10:53227526 PRKG1 C>T	10	53227526	53227526	C	T	PRKG1	c.522C>T	NM_006258.4	NP_006249.1:p.(Thr174=)	NC_000010.10:g.53227526C>T	(Likely) benign	1 lab	78ea43f46e
1:172628515 FASLG G>A	1	172628515	172628515	G	A	FASLG	c.174G>A	NM_000639.1	NP_000630.1:p.(Pro58=)	NC_000001.10:g.172628515G>A	(Likely) benign	1 lab	78ed1cc0cf
12:2715821 CACNA1C G>A	12	2715821	2715821	G	A	CACNA1C	c.3261G>A	NM_199460.3	NP_955630.3:p.(Ala1087=)	NC_000012.11:g.2715821G>A	(Likely) benign	1 lab	78f07a1c84
3:63968083 ATXN7 A>G	3	63968083	63968083	A	G	ATXN7	c.974A>G	NM_000333.3	NP_000324.1:p.(Asn325Ser)	NC_000003.11:g.63968083A>G	(Likely) benign	1 lab	78f4d9a13b
2:47389409 CALM2 C>G	2	47389409	47389409	C	G	CALM2	c.177+16G>C	NM_001305626.1	NP_001292555.1:p.?	NC_000002.11:g.47389409C>G	(Likely) benign	1 lab	78f5eef29b
11:68704317 IGHMBP2 G>A	11	68704317	68704317	G	A	IGHMBP2	c.2369G>A	NM_002180.2	NP_002171.2:p.(Arg790Gln)	NC_000011.9:g.68704317G>A	(Likely) benign	1 lab	78f858420b
17:78169137 CARD14 AGCACTGGGGTCCTTCCTGGCACTGGGGTG>A	17	78169137	78169187	AGCACTGGGGTCCTTCCTGGCACTGGGGTG	A	CARD14	c.1499+27_1499+55del	NM_001366385.1	NP_001353314.1:p.?	NC_000017.10:g.78169159_78169187del	(Likely) benign	1 lab	78f8c7017b
20:62076711 KCNQ2 C>T	20	62076711	62076711	C	T	KCNQ2	c.394G>A	NM_172107.4	NP_742105.1:p.(Val132Met)	NC_000020.10:g.62076711C>T	(Likely) pathogenic	1 lab	78fba579c6
19:10283797 DNMT1 C>T	19	10283797	10283797	C	T	DNMT1	c.737G>A	NM_001130823.1	NP_001124295.1:p.(Arg246His)	NC_000019.9:g.10283797C>T	(Likely) benign	1 lab	78fceeb201
9:94486711 ROR2 C>T	9	94486711	94486711	C	T	ROR2	c.2065G>A	NM_004560.4	NP_004551.2:p.(Gly689Ser)	NC_000009.11:g.94486711C>T	VUS	1 lab	78ffd19579
11:103182775 DYNC2H1 A>G	11	103182775	103182775	A	G	DYNC2H1	c.11670+13A>G	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103182775A>G	(Likely) benign	1 lab	7900200bcd
2:216251580 FN1 G>A	2	216251580	216251580	G	A	FN1	c.4444C>T	NM_212482.2	NP_997647.1:p.(Arg1482Cys)	NC_000002.11:g.216251580G>A	(Likely) benign	1 lab	7900c49dfe
10:95556708 LGI1 C>G	10	95556708	95556708	C	G	LGI1	c.839-17C>G	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95556708C>G	(Likely) benign	1 lab	790b2cb6bd
12:66638962 IRAK3 C>T	12	66638962	66638962	C	T	IRAK3	c.1234C>T	NM_007199.3	NP_009130.2:p.(Arg412Trp)	NC_000012.11:g.66638962C>T	(Likely) benign	1 lab	790fd163d5
17:43531531 PLEKHM1 G>A	17	43531531	43531531	G	A	PLEKHM1	c.1687C>T	NM_014798.3	NP_055613.1:p.(Arg563Cys)	NC_000017.10:g.43531531G>A	VUS	1 lab	d1e43af66b
16:2164625 PKD1 G>GC	16	2164625	2164628	G	GC	PKD1	c.2398dup	NM_001009944.2	NP_001009944.2:p.(Ala800GlyfsTer17)	NC_000016.9:g.2164628dup	(Likely) pathogenic	1 lab	79149bacea
22:37887758 CARD10 T>C	22	37887758	37887758	T	C	CARD10	c.2864+4A>G	NM_014550.4	NP_055365.2:p.?	NC_000022.10:g.37887758T>C	(Likely) benign	1 lab	7914a4a95a
7:36461495 ANLN G>A	7	36461495	36461495	G	A	ANLN	c.2193G>A	NM_018685.5	NP_061155.2:p.(Gln731=)	NC_000007.13:g.36461495G>A	(Likely) benign	1 lab	79154fd0e8
1:158582426 SPTA1 G>A	1	158582426	158582426	G	A	SPTA1	c.7134+181C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158582426G>A	(Likely) benign	1 lab	791575cf82
6:32939398 BRD2 C>G	6	32939398	32939398	C	G	BRD2	c.-1278C>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32939398C>G	(Likely) benign	1 lab	791602e59b
5:140181513 PCDHA3 G>A	5	140181513	140181513	G	A	PCDHA3	c.731G>A	NM_018906.3	NP_061729.1:p.(Arg244Lys)	NC_000005.9:g.140181513G>A	(Likely) benign	1 lab	79187fab92
22:17585624 IL17RA C>G	22	17585624	17585624	C	G	IL17RA	c.855C>G	NM_014339.6	NP_055154.3:p.(Pro285=)	NC_000022.10:g.17585624C>G	(Likely) benign	1 lab	791d0c4b4d
X:119674316 CUL4B G>A	X	119674316	119674316	G	A	CUL4B	c.1599C>T	NM_003588.3	NP_003579.3:p.(Cys533=)	NC_000023.10:g.119674316G>A	(Likely) benign	1 lab	792c15e5fd
1:247587536 NLRP3 T>C	1	247587536	247587536	T	C	NLRP3	c.785T>C	NM_001243133.2	NP_001230062.1:p.(Val262Ala)	NC_000001.10:g.247587536T>C	(Likely) pathogenic	1 lab	792cdb5b41
17:78179466 CARD14 G>A	17	78179466	78179466	G	A	CARD14	c.2691+15G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78179466G>A	(Likely) benign	1 lab	792e1396fc
1:235600813 TBCE A>C	1	235600813	235600813	A	C	TBCE	c.1116+24A>C	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235600813A>C	(Likely) benign	1 lab	79338fabbd
10:16943382 CUBN G>T	10	16943382	16943382	G	T	CUBN	c.8139C>A	NM_001081.3	NP_001072.2:p.(Thr2713=)	NC_000010.10:g.16943382G>T	(Likely) benign	1 lab	793f9802df
10:97976365 BLNK C>T	10	97976365	97976365	C	T	BLNK	c.607+44G>A	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.97976365C>T	(Likely) benign	1 lab	79454a1ad9
8:94792965 TMEM67 A>G	8	94792965	94792965	A	G	TMEM67	c.859A>G	NM_153704.5	NP_714915.3:p.(Ile287Val)	NC_000008.10:g.94792965A>G	(Likely) benign	1 lab	79532c2910
2:31567579 XDH T>C	2	31567579	31567579	T	C	XDH	c.3375A>G	NM_000379.4	NP_000370.2:p.(Thr1125=)	NC_000002.11:g.31567579T>C	(Likely) benign	1 lab	7956873573
4:79434484 FRAS1 T>C	4	79434484	79434484	T	C	FRAS1	c.10014-62T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79434484T>C	(Likely) benign	1 lab	79578c075a
14:64608214 SYNE2 T>A	14	64608214	64608214	T	A	SYNE2	c.15132T>A	NM_182914.2	NP_878918.2:p.(Leu5044=)	NC_000014.8:g.64608214T>A	(Likely) benign	1 lab	79646538e8
19:7708167 STXBP2 C>T	19	7708167	7708167	C	T	STXBP2	c.1140+36C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7708167C>T	(Likely) benign	1 lab	7969e76770
18:55373755 ATP8B1 T>C	18	55373755	55373755	T	C	ATP8B1	c.246A>G	NM_005603.6	NP_005594.2:p.(Thr82=)	NC_000018.9:g.55373755T>C	(Likely) benign	1 lab	796c9a5056
12:64858110 TBK1 T>TC	12	64858110	64858111	T	TC	TBK1	c.229-3dup	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64858111dup	(Likely) benign	1 lab	796ddc9af8
10:68940123 CTNNA3 G>A	10	68940123	68940123	G	A	CTNNA3	c.999C>T	NM_013266.4	NP_037398.2:p.(Asn333=)	NC_000010.10:g.68940123G>A	(Likely) benign	1 lab	7970217ab7
9:139440202 NOTCH1 G>GC	9	139440202	139440203	G	GC	NOTCH1	c.36dup	NM_017617.5	NP_060087.3:p.(Leu13AlafsTer17)	NC_000009.11:g.139440203dup	(Likely) pathogenic	1 lab	7970d3dc40
6:33281130 TAPBP G>C	6	33281130	33281130	G	C	TAPBP	c.333C>G	NM_003190.4	NP_003181.3:p.(Pro111=)	NC_000006.11:g.33281130G>C	(Likely) benign	1 lab	79748ab4c9
17:73831953 UNC13D G>A	17	73831953	73831953	G	A	UNC13D	c.1579C>T	NM_199242.2	NP_954712.1:p.(Arg527Trp)	NC_000017.10:g.73831953G>A	(Likely) benign	1 lab	7974fdd37c
16:3293520 MEFV T>G	16	3293520	3293520	T	G	MEFV	c.1967A>C	NM_000243.2	NP_000234.1:p.(Glu656Ala)	NC_000016.9:g.3293520T>G	(Likely) pathogenic	1 lab	7976a3733e
14:74759248 ABCD4 C>A	14	74759248	74759248	C	A	ABCD4	c.1028+6G>T	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74759248C>A	(Likely) benign	1 lab	79826e5107
17:4802097 CHRNE G>A	17	4802097	4802097	G	A	CHRNE	c.1416C>T	NM_000080.4	NP_000071.1:p.(Leu472=)	NC_000017.10:g.4802097G>A	(Likely) benign	1 lab	7984eba0fa
11:2608864 KCNQ1 A>G	11	2608864	2608864	A	G	KCNQ1	c.1193A>G	NM_000218.2	NP_000209.2:p.(Lys398Arg)	NC_000011.9:g.2608864A>G	VUS	1 lab	798543f674
2:166226622 SCN2A T>A	2	166226622	166226622	T	A	SCN2A	c.3676-14T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166226622T>A	VUS	1 lab	798887a695
12:110012679 MVK G>A	12	110012679	110012679	G	A	MVK	c.52G>A	NM_000431.2	NP_000422.1:p.(Gly18Arg)	NC_000012.11:g.110012679G>A	VUS	1 lab	7989047d96
8:100403762 VPS13B G>A	8	100403762	100403762	G	A	VPS13B	c.2935-23G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100403762G>A	(Likely) benign	1 lab	798ac19422
X:76938579 ATRX C>G	X	76938579	76938579	C	G	ATRX	c.2169G>C	NM_000489.5	NP_000480.3:p.(Glu723Asp)	NC_000023.10:g.76938579C>G	(Likely) benign	1 lab	798cb4233a
3:64536572 ADAMTS9 G>C	3	64536572	64536572	G	C	ADAMTS9	c.4865C>G	NM_182920.2	NP_891550.1:p.(Ser1622Ter)	NC_000003.11:g.64536572G>C	(Likely) pathogenic	1 lab	798d86e061
8:41542093 ANK1 G>A	8	41542093	41542093	G	A	ANK1	c.4629C>T	NM_001142446.2	NP_001135918.1:p.(Arg1543=)	NC_000008.10:g.41542093G>A	(Likely) benign	1 lab	79902ecdbe
4:2826347 SH3BP2 C>A	4	2826347	2826347	C	A	SH3BP2	c.331C>A	NM_001145855.2	NP_001139327.1:p.(Arg111=)	NC_000004.11:g.2826347C>A	(Likely) benign	1 lab	7990931844
8:61655171 CHD7 C>T	8	61655171	61655171	C	T	CHD7				NC_000008.10:g.61655171C>T	(Likely) benign	1 lab	7993ebb89f
19:35524244 SCN1B G>A	19	35524244	35524244	G	A	SCN1B	c.208-159G>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35524244G>A	(Likely) benign	1 lab	79966abb59
8:145641344 SLC39A4 C>T	8	145641344	145641344	C	T	SLC39A4	c.324G>A	NM_130849.4	NP_570901.3:p.(Glu108=)	NC_000008.10:g.145641344C>T	(Likely) benign	1 lab	7997843865
15:48720540 FBN1 C>T	15	48720540	48720540	C	T	FBN1	c.6997+3G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48720540C>T	(Likely) benign	1 lab	799ee91bf8
1:236910942 ACTN2 C>G	1	236910942	236910942	C	G	ACTN2	c.1407-25C>G	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236910942C>G	(Likely) benign	1 lab	79a2e3ac21
2:179430833 TTN C>G	2	179430833	179430833	C	G	TTN	c.53206G>C	NM_133432.3	NP_597676.3:p.(Val17736Leu)	NC_000002.11:g.179430833C>G	VUS	1 lab	79a3bc808d
6:7567609 DSP C>T	6	7567609	7567609	C	T	DSP	c.1067C>T	NM_004415.4	NP_004406.2:p.(Thr356Met)	NC_000006.11:g.7567609C>T	VUS	1 lab	d1ea190d59
12:116403933 MED13L C>T	12	116403933	116403933	C	T	MED13L	c.6341G>A	NM_015335.4	NP_056150.1:p.(Trp2114Ter)	NC_000012.11:g.116403933C>T	(Likely) pathogenic	1 lab	79aeb578d0
17:48141862 ITGA3 T>A	17	48141862	48141862	T	A	ITGA3	c.335-30T>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48141862T>A	(Likely) benign	1 lab	79b2b87f87
2:227872248 COL4A4 G>T	2	227872248	227872248	G	T	COL4A4	c.4866C>A	NM_000092.4	NP_000083.3:p.(Cys1622Ter)	NC_000002.11:g.227872248G>T	(Likely) pathogenic	1 lab	79bbc1fdaa
2:143718348 KYNU G>A	2	143718348	143718348	G	A	KYNU	c.729+9G>A	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143718348G>A	(Likely) benign	1 lab	79bd61b70a
5:161578692 GABRG2 A>T	5	161578692	161578692	A	T	GABRG2				NC_000005.9:g.161578692A>T	(Likely) benign	1 lab	79bee79c40
2:202593929 ALS2 GA>G	2	202593929	202593942	GA	G	ALS2	c.2581-24del	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202593942del	(Likely) benign	1 lab	79bfd0e82d
8:100480014 VPS13B T>C	8	100480014	100480014	T	C	VPS13B	c.3666+152T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100480014T>C	(Likely) benign	1 lab	79c1ea73a4
11:20623171 SLC6A5 C>A	11	20623171	20623171	C	A	SLC6A5	c.500C>A	NM_004211.5	NP_004202.4:p.(Thr167Lys)	NC_000011.9:g.20623171C>A	(Likely) benign	1 lab	79c21e6a51
5:161569296 GABRG2 A>T	5	161569296	161569296	A	T	GABRG2				NC_000005.9:g.161569296A>T	(Likely) pathogenic	1 lab	79c37e57b8
9:130427627 STXBP1 C>T	9	130427627	130427627	C	T	STXBP1	c.663+17C>T	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130427627C>T	(Likely) benign	1 lab	79c90278a3
17:73827312 UNC13D C>T	17	73827312	73827312	C	T	UNC13D	c.2553+12G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73827312C>T	(Likely) benign	1 lab	79cda603b8
3:53219680 PRKCD G>A	3	53219680	53219680	G	A	PRKCD	c.949G>A	NM_006254.4	NP_006245.2:p.(Glu317Lys)	NC_000003.11:g.53219680G>A	(Likely) benign	1 lab	79cee74628
1:196716375 CFH C>T	1	196716375	196716375	C	T	CFH	c.3628C>T	NM_000186.3	NP_000177.2:p.(Arg1210Cys)	NC_000001.10:g.196716375C>T	(Likely) pathogenic	1 lab	79cfd049c0
9:336577 DOCK8 T>A	9	336577	336577	T	A	DOCK8	c.1286-5T>A	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.336577T>A	(Likely) benign	1 lab	79d2cbc5f4
19:1007862 GRIN3B C>G	19	1007862	1007862	C	G	GRIN3B	c.2206C>G	NM_138690.3	NP_619635.1:p.(Pro736Ala)	NC_000019.9:g.1007862C>G	VUS	1 lab	d1ec4da4bb
8:55371994 SOX17 C>T	8	55371994	55371994	C	T	SOX17	c.684C>T	NM_022454.4	NP_071899.1:p.(Asp228=)	NC_000008.10:g.55371994C>T	(Likely) benign	1 lab	d1ef95940b
2:224640648 AP1S3 G>A	2	224640648	224640648	G	A	AP1S3	c.261C>T	NM_001039569.2	NP_001034658.1:p.(Tyr87=)	NC_000002.11:g.224640648G>A	(Likely) benign	1 lab	79d3dba9ef
14:21861777 CHD8 TG>T	14	21861777	21861779	TG	T	CHD8	c.6176del	NM_001170629.2	NP_001164100.1:p.(Pro2059HisfsTer17)	NC_000014.8:g.21861779del	(Likely) pathogenic	1 lab	79d4be23b4
20:32379290 ZNF341 C>T	20	32379290	32379290	C	T	ZNF341	c.2511C>T	NM_032819.4	NP_116208.3:p.(Leu837=)	NC_000020.10:g.32379290C>T	(Likely) benign	1 lab	79d6515abf
9:138671052 KCNT1 C>T	9	138671052	138671052	C	T	KCNT1	c.2730-153C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138671052C>T	(Likely) benign	1 lab	79dad4e4ff
1:1958902 GABRD A>T	1	1958902	1958902	A	T	GABRD	c.471-114A>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1958902A>T	(Likely) benign	1 lab	79db0531c4
16:2160060 PKD1 A>G	16	2160060	2160060	A	G	PKD1	c.5108T>C	NM_001009944.2	NP_001009944.2:p.(Leu1703Pro)	NC_000016.9:g.2160060A>G	(Likely) pathogenic	1 lab	79db93f2b9
13:37393738 RFXAP G>T	13	37393738	37393738	G	T	RFXAP	c.244G>T	NM_000538.4	NP_000529.1:p.(Glu82Ter)	NC_000013.10:g.37393738G>T	(Likely) pathogenic	1 lab	d1ef9f2af0
15:40591069 PLCB2 C>G	15	40591069	40591069	C	G	PLCB2	c.780G>C	NM_004573.3	NP_004564.2:p.(Pro260=)	NC_000015.9:g.40591069C>G	(Likely) benign	1 lab	79e17178b8
19:13319915 CACNA1A G>A	19	13319915	13319915	G	A	CACNA1A	c.6545-92C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13319915G>A	(Likely) benign	1 lab	79e1943b1c
9:131340535 SPTAN1 C>T	9	131340535	131340535	C	T	SPTAN1	c.1221+11C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131340535C>T	(Likely) benign	1 lab	79e4063ebd
7:92762435 SAMD9L G>A	7	92762435	92762435	G	A	SAMD9L	c.2850C>T	NM_152703.5	NP_689916.2:p.(Tyr950=)	NC_000007.13:g.92762435G>A	(Likely) benign	1 lab	79eba11944
3:15515695 COLQ C>T	3	15515695	15515695	C	T	COLQ	c.570+40G>A	NM_080538.2	NP_536799.1:p.?	NC_000003.11:g.15515695C>T	(Likely) benign	1 lab	d1f48d911c
15:77310608 PSTPIP1 CA>C	15	77310608	77310609	CA	C	PSTPIP1	c.137+20del	NM_003978.5	NP_003969.2:p.?	NC_000015.9:g.77310609del	(Likely) benign	1 lab	79f2e71ca0
5:89970170 ADGRV1 T>G	5	89970170	89970170	T	G	ADGRV1	c.5110+119T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89970170T>G	(Likely) benign	1 lab	82ff962f53
13:52511454 ATP7B G>C	13	52511454	52511454	G	C	ATP7B	c.3979C>G	NM_000053.4	NP_000044.2:p.(Leu1327Val)	NC_000013.10:g.52511454G>C	(Likely) pathogenic	1 lab	79f30196c1
2:179581962 TTN C>T	2	179581962	179581962	C	T	TTN	c.25499G>A	NM_001267550.2	NP_001254479.2:p.(Gly8500Asp)	NC_000002.11:g.179581962C>T	VUS	1 lab	d1f733725f
5:89947600 ADGRV1 A>G	5	89947600	89947600	A	G	ADGRV1	c.3416+53A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89947600A>G	(Likely) benign	1 lab	79f7deed8b
8:101725036 PABPC1 G>GAA	8	101725036	101725048	G	GAA	PABPC1	c.739-21_739-20dup	NM_002568.4	NP_002559.2:p.?	NC_000008.10:g.101725047_101725048dup	(Likely) benign	1 lab	79fb830b2c
9:16437248 BNC2 A>G	9	16437248	16437248	A	G	BNC2	c.944T>C	NM_017637.6	NP_060107.3:p.(Ile315Thr)	NC_000009.11:g.16437248A>G	VUS	1 lab	d1f785cdeb
6:31962737 C4A G>A	6	31962737	31962737	G	A	C4A	c.2811G>A	NM_007293.2	NP_009224.2:p.(Gly937=)	NC_000006.11:g.31962737G>A	(Likely) benign	1 lab	79ffcd3865
10:95537375 LGI1 G>A	10	95537375	95537375	G	A	LGI1	c.431+1G>A	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95537375G>A	(Likely) pathogenic	1 lab	79fffa05ef
20:8714109 PLCB1 G>A	20	8714109	8714109	G	A	PLCB1	c.2043+70G>A	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8714109G>A	(Likely) benign	1 lab	7a013430e2
19:3600075 TBXA2R C>T	19	3600075	3600075	C	T	TBXA2R	c.558G>A	NM_001060.5	NP_001051.1:p.(Thr186=)	NC_000019.9:g.3600075C>T	(Likely) benign	1 lab	7a030ca055
12:13717125 GRIN2B C>T	12	13717125	13717125	C	T	GRIN2B	c.3047G>A	NM_000834.5	NP_000825.2:p.(Arg1016Lys)	NC_000012.11:g.13717125C>T	(Likely) benign	1 lab	d1fe5e96d4
2:26477197 HADHB T>C	2	26477197	26477197	T	C	HADHB	c.64+11T>C	NM_000183.3	NP_000174.1:p.?	NC_000002.11:g.26477197T>C	(Likely) benign	1 lab	7a069339c2
8:145738227 RECQL4 C>T	8	145738227	145738227	C	T	RECQL4	c.2755+3G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738227C>T	(Likely) benign	1 lab	d1ffd74e5e
3:128979593 COPG1 C>T	3	128979593	128979593	C	T	COPG1	c.1071C>T	NM_016128.4	NP_057212.1:p.(Ile357=)	NC_000003.11:g.128979593C>T	(Likely) benign	1 lab	7a0f8bf703
10:90701152 ACTA2 G>A	10	90701152	90701152	G	A	ACTA2	c.455-5C>T	NM_001613.2	NP_001604.1:p.?	NC_000010.10:g.90701152G>A	(Likely) benign	1 lab	7a155d18a9
2:167163373 SCN9A C>A	2	167163373	167163373	C	A	SCN9A	c.377+93G>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167163373C>A	(Likely) benign	1 lab	7a158e17c8
11:64575158 MEN1 G>C	11	64575158	64575158	G	C	MEN1	c.670-6C>G	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64575158G>C	(Likely) pathogenic	1 lab	7a182a1214
19:34869901 GPI G>A	19	34869901	34869901	G	A	GPI	c.696G>A	NM_000175.5	NP_000166.2:p.(Ala232=)	NC_000019.9:g.34869901G>A	(Likely) benign	1 lab	7a18dddf51
1:247597180 NLRP3 T>C	1	247597180	247597180	T	C	NLRP3	c.2322-225T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597180T>C	(Likely) benign	1 lab	7a1b8fc777
14:65271780 SPTB G>A	14	65271780	65271780	G	A	SPTB	c.177C>T	NM_001024858.3	NP_001020029.1:p.(Thr59=)	NC_000014.8:g.65271780G>A	(Likely) benign	1 lab	7a1c73e305
17:1780583 RPA1 T>C	17	1780583	1780583	T	C	RPA1	c.665T>C	NM_002945.5	NP_002936.1:p.(Phe222Ser)	NC_000017.10:g.1780583T>C	VUS	1 lab	7a20bd0e13
11:108213954 ATM TC>T	11	108213954	108213958	TC	T	ATM	c.8278del	NM_000051.4	NP_000042.3:p.(Leu2760SerfsTer46)	NC_000011.9:g.108213958del	(Likely) pathogenic	1 lab	7a21a8a037
6:32821073 TAP1 C>T	6	32821073	32821073	C	T	TAP1	c.521G>A	NM_000593.5	NP_000584.2:p.(Arg174Gln)	NC_000006.11:g.32821073C>T	(Likely) benign	1 lab	7a223a70de
6:51720729 PKHD1 A>G	6	51720729	51720729	A	G	PKHD1	c.7873T>C	NM_138694.4	NP_619639.3:p.(Leu2625=)	NC_000006.11:g.51720729A>G	(Likely) benign	1 lab	7a234c93f2
4:151772059 LRBA T>C	4	151772059	151772059	T	C	LRBA	c.3826-5A>G	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151772059T>C	(Likely) benign	1 lab	7a253ab1b5
17:76113352 TMC6 T>C	17	76113352	76113352	T	C	TMC6	c.2275A>G	NM_007267.6	NP_009198.4:p.(Asn759Asp)	NC_000017.10:g.76113352T>C	(Likely) benign	1 lab	7a2c993f68
17:76130987 TMC8 G>T	17	76130987	76130987	G	T	TMC8	c.1024G>T	NM_152468.4	NP_689681.2:p.(Gly342Trp)	NC_000017.10:g.76130987G>T	(Likely) benign	1 lab	7a2d27d0a4
5:56177369 MAP3K1 T>C	5	56177369	56177369	T	C	MAP3K1	c.2370-28T>C	NM_005921.2	NP_005912.1:p.?	NC_000005.9:g.56177369T>C	(Likely) benign	1 lab	7a301b61fb
12:110012698 MVK A>C	12	110012698	110012698	A	C	MVK	c.71A>C	NM_000431.2	NP_000422.1:p.(His24Pro)	NC_000012.11:g.110012698A>C	(Likely) pathogenic	1 lab	7a30e02a89
15:73660123 HCN4 G>A	15	73660123	73660123	G	A	HCN4	c.489C>T	NM_005477.3	NP_005468.1:p.(Ala163=)	NC_000015.9:g.73660123G>A	(Likely) benign	1 lab	7a3419633f
14:74416836 COQ6 G>A	14	74416836	74416836	G	A	COQ6	c.41G>A	NM_182480.2	NP_872286.2:p.(Trp14Ter)	NC_000014.8:g.74416836G>A	(Likely) benign	1 lab	7a36619486
7:6038814 PMS2 T>C	7	6038814	6038814	T	C	PMS2	c.630A>G	NM_000535.5	NP_000526.1:p.(Lys210=)	NC_000007.13:g.6038814T>C	(Likely) benign	1 lab	7a38296ae4
1:33476395 AK2 T>C	1	33476395	33476395	T	C	AK2	n.694A>G	NR_134976.2		NC_000001.10:g.33476395T>C	(Likely) benign	1 lab	7a3a2223c2
7:92762158 SAMD9L G>A	7	92762158	92762158	G	A	SAMD9L	c.3127C>T	NM_152703.5	NP_689916.2:p.(Gln1043Ter)	NC_000007.13:g.92762158G>A	VUS	1 lab	d205b79c6c
17:16855748 TNFRSF13B C>T	17	16855748	16855748	C	T	TNFRSF13B	c.199+12G>A	NM_012452.2	NP_036584.1:p.?	NC_000017.10:g.16855748C>T	(Likely) benign	1 lab	7a3aafea09
9:738428 KANK1 C>T	9	738428	738428	C	T	KANK1	c.3477C>T	NM_015158.4	NP_055973.2:p.(Asp1159=)	NC_000009.11:g.738428C>T	(Likely) benign	1 lab	7a40f87c42
18:2960630 LPIN2 T>C	18	2960630	2960630	T	C	LPIN2	c.192+17A>G	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2960630T>C	(Likely) benign	1 lab	7a44896a2a
X:110435373 PAK3 T>C	X	110435373	110435373	T	C	PAK3	c.849T>C	NM_002578.5	NP_002569.1:p.(Tyr283=)	NC_000023.10:g.110435373T>C	(Likely) benign	1 lab	7a469aab61
8:22868183 RHOBTB2 C>T	8	22868183	22868183	C	T	RHOBTB2	c.1819C>T	NM_001160036.2	NP_001153508.1:p.(His607Tyr)	NC_000008.10:g.22868183C>T	VUS	1 lab	d2092c0d33
11:68183797 LRP5 G>A	11	68183797	68183797	G	A	LRP5	c.2829G>A	NM_002335.4	NP_002326.2:p.(Pro943=)	NC_000011.9:g.68183797G>A	(Likely) benign	1 lab	7a4ded1834
1:9784369 PIK3CD T>C	1	9784369	9784369	T	C	PIK3CD	c.2754T>C	NM_005026.3	NP_005017.3:p.(Asn918=)	NC_000001.10:g.9784369T>C	(Likely) benign	1 lab	7a4f286dab
16:9858404 GRIN2A G>A	16	9858404	9858404	G	A	GRIN2A	c.2997C>T	NM_000833.5	NP_000824.1:p.(Ala999=)	NC_000016.9:g.9858404G>A	(Likely) benign	1 lab	7a525e2c3f
9:14823218 FREM1 A>G	9	14823218	14823218	A	G	FREM1	c.2277T>C	NM_144966.5	NP_659403.4:p.(Gly759=)	NC_000009.11:g.14823218A>G	(Likely) benign	1 lab	7a5340bd96
4:79387365 FRAS1 G>A	4	79387365	79387365	G	A	FRAS1	c.7033G>A	NM_025074.7	NP_079350.5:p.(Glu2345Lys)	NC_000004.11:g.79387365G>A	(Likely) benign	1 lab	7a57beec9e
22:40816443 MRTFA G>A	22	40816443	40816443	G	A	MRTFA	c.1319C>T	NM_001282662.3	NP_001269591.2:p.(Pro440Leu)	NC_000022.10:g.40816443G>A	(Likely) benign	1 lab	7a5a5f135d
17:42452054 ITGA2B C>T	17	42452054	42452054	C	T	ITGA2B	c.2916G>A	NM_000419.3	NP_000410.2:p.(Pro972=)	NC_000017.10:g.42452054C>T	(Likely) benign	1 lab	7a62bb27f0
12:6439909 TNFRSF1A C>A	12	6439909	6439909	C	A	TNFRSF1A	c.626-32G>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6439909C>A	(Likely) benign	1 lab	7a6344b135
7:156798546 MNX1 G>A	7	156798546	156798546	G	A	MNX1	c.238C>T	NM_001165255.1	NP_001158727.1:p.(Arg80Trp)	NC_000007.13:g.156798546G>A	(Likely) pathogenic	1 lab	7a6a6fc575
8:42174416 IKBKB C>T	8	42174416	42174416	C	T	IKBKB	c.1119C>T	NM_001556.3	NP_001547.1:p.(Asp373=)	NC_000008.10:g.42174416C>T	(Likely) benign	1 lab	7a6fc4e782
15:80472530 FAH C>T	15	80472530	80472530	C	T	FAH	c.1025C>T	NM_000137.4	NP_000128.1:p.(Pro342Leu)	NC_000015.9:g.80472530C>T	VUS	1 lab	7a7270cf25
X:107910484 COL4A5 C>G	X	107910484	107910484	C	G	COL4A5	c.3604+71C>G	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107910484C>G	(Likely) benign	1 lab	7a72a022ad
1:206943351 IL10 T>C	1	206943351	206943351	T	C	IL10	c.379-112A>G	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206943351T>C	(Likely) benign	1 lab	7a76a86c18
12:52309174 ACVRL1 T>A	12	52309174	52309174	T	A	ACVRL1	c.938T>A	NM_000020.2	NP_000011.2:p.(Leu313Gln)	NC_000012.11:g.52309174T>A	(Likely) pathogenic	1 lab	7a76d65b0e
5:90261421 ADGRV1 A>G	5	90261421	90261421	A	G	ADGRV1	c.17973+73A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90261421A>G	(Likely) benign	1 lab	7a7775068e
5:45645622 HCN1 T>G	5	45645622	45645622	T	G	HCN1	c.514A>C	NM_021072.4	NP_066550.2:p.(Thr172Pro)	NC_000005.9:g.45645622T>G	(Likely) pathogenic	1 lab	7a783514eb
17:76121868 TMC6 G>A	17	76121868	76121868	G	A	TMC6	c.369C>T	NM_007267.6	NP_009198.4:p.(Ser123=)	NC_000017.10:g.76121868G>A	(Likely) benign	1 lab	7a7959e064
2:113819585 IL36RN C>T	2	113819585	113819585	C	T	IL36RN	c.116-116C>T	NM_012275.2	NP_036407.1:p.?	NC_000002.11:g.113819585C>T	(Likely) benign	1 lab	7a7a0da3ac
7:123302227 LMOD2 C>T	7	123302227	123302227	C	T	LMOD2	c.587C>T	NM_207163.3	NP_997046.1:p.(Pro196Leu)	NC_000007.13:g.123302227C>T	VUS	1 lab	7a7b7c7cc0
2:166731356 TTC21B A>G	2	166731356	166731356	A	G	TTC21B	c.3874-14T>C	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166731356A>G	(Likely) benign	1 lab	7a7d95a94f
6:87970615 ZNF292 T>A	6	87970615	87970615	T	A	ZNF292	c.7268T>A	NM_015021.3	NP_055836.1:p.(Leu2423His)	NC_000006.11:g.87970615T>A	(Likely) benign	1 lab	d20f5cfb67
16:3304451 MEFV T>C	16	3304451	3304451	T	C	MEFV	c.617A>G	NM_000243.2	NP_000234.1:p.(Asn206Ser)	NC_000016.9:g.3304451T>C	(Likely) benign	1 lab	7a80c034cb
9:136294889 ADAMTS13 T>C	9	136294889	136294889	T	C	ADAMTS13	c.825-170T>C	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136294889T>C	(Likely) benign	1 lab	7a8755ccfa
X:100611080 BTK A>G	X	100611080	100611080	A	G	BTK	c.1526T>C	NM_000061.2	NP_000052.1:p.(Met509Thr)	NC_000023.10:g.100611080A>G	(Likely) pathogenic	1 lab	7a88823eb7
9:138662084 KCNT1 G>A	9	138662084	138662084	G	A	KCNT1	c.1620-60G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662084G>A	(Likely) benign	1 lab	7a8f06680e
2:31570394 XDH G>A	2	31570394	31570394	G	A	XDH	c.3270C>T	NM_000379.4	NP_000370.2:p.(Ala1090=)	NC_000002.11:g.31570394G>A	(Likely) benign	1 lab	7a9398f291
12:6443047 TNFRSF1A CAG>C	12	6443047	6443051	CAG	C	TNFRSF1A	c.194-18_194-17del	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6443050_6443051del	(Likely) benign	1 lab	7a98c7857d
17:73835919 UNC13D C>T	17	73835919	73835919	C	T	UNC13D	c.1055+1G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73835919C>T	VUS	1 lab	7a99a8643c
8:33369537 TTI2 C>A	8	33369537	33369537	C	A	TTI2				NC_000008.10:g.33369537C>A	(Likely) pathogenic	1 lab	7a9bfee03c
2:217315712 SMARCAL1 C>T	2	217315712	217315712	C	T	SMARCAL1	c.1995C>T	NM_014140.3	NP_054859.2:p.(Ala665=)	NC_000002.11:g.217315712C>T	(Likely) benign	1 lab	7a9c3f3039
15:93448201 CHD2 A>G	15	93448201	93448201	A	G	CHD2	c.62+3672A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93448201A>G	(Likely) benign	1 lab	7a9ef6005c
10:97447299 TCTN3 G>A	10	97447299	97447299	G	A	TCTN3	c.627+50C>T	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97447299G>A	(Likely) benign	1 lab	7a9fd77a11
6:39851742 DAAM2 G>A	6	39851742	39851742	G	A	DAAM2	c.1850G>A	NM_001201427.2	NP_001188356.1:p.(Arg617His)	NC_000006.11:g.39851742G>A	(Likely) benign	1 lab	7aa0f3fb72
1:247588456 NLRP3 G>C	1	247588456	247588456	G	C	NLRP3	c.1705G>C	NM_001243133.2	NP_001230062.1:p.(Gly569Arg)	NC_000001.10:g.247588456G>C	(Likely) pathogenic	1 lab	7aa20b4370
16:19083312 COQ7 C>T	16	19083312	19083312	C	T	COQ7	c.136C>T	NM_016138.5	NP_057222.2:p.(Arg46Trp)	NC_000016.9:g.19083312C>T	(Likely) benign	1 lab	7aa37b9afe
15:65477451 CLPX A>T	15	65477451	65477451	A	T	CLPX	c.41T>A	NM_006660.5	NP_006651.2:p.(Val14Asp)	NC_000015.9:g.65477451A>T	(Likely) benign	1 lab	7aa4ebd3b1
17:73732412 ITGB4 A>T	17	73732412	73732412	A	T	ITGB4	c.1805A>T	NM_000213.5	NP_000204.3:p.(His602Leu)	NC_000017.10:g.73732412A>T	(Likely) benign	1 lab	7aa52cd31e
1:247587671 NLRP3 G>T	1	247587671	247587671	G	T	NLRP3	c.920G>T	NM_001243133.2	NP_001230062.1:p.(Gly307Val)	NC_000001.10:g.247587671G>T	(Likely) pathogenic	1 lab	7aac4045c7
3:127779333 SEC61A1 A>AT	3	127779333	127779338	A	AT	SEC61A1	c.463-13dup	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127779338dup	(Likely) benign	1 lab	7aafaee745
12:110024570 MVK C>T	12	110024570	110024570	C	T	MVK	c.643C>T	NM_000431.2	NP_000422.1:p.(Arg215Ter)	NC_000012.11:g.110024570C>T	(Likely) pathogenic	1 lab	7ab522b54a
7:2956957 CARD11 C>T	7	2956957	2956957	C	T	CARD11	c.2670G>A	NM_001324281.2	NP_001311210.1:p.(Ser890=)	NC_000007.13:g.2956957C>T	(Likely) benign	1 lab	7abbad66ad
14:21794039 RPGRIP1 C>T	14	21794039	21794039	C	T	RPGRIP1	c.2417C>T	NM_020366.3	NP_065099.3:p.(Thr806Ile)	NC_000014.8:g.21794039C>T	(Likely) benign	1 lab	7abe15451d
3:123376091 MYLK G>A	3	123376091	123376091	G	A	MYLK	c.4170C>T	NM_053025.3	NP_444253.3:p.(Asn1390=)	NC_000003.11:g.123376091G>A	(Likely) benign	1 lab	7ac1c76c37
19:50818020 KCNC3 T>A	19	50818020	50818020	T	A	KCNC3	n.547A>T	NR_110912.2		NC_000019.9:g.50818020T>A	(Likely) benign	1 lab	7ac5f2815d
16:3299648 MEFV C>T	16	3299648	3299648	C	T	MEFV	c.1043G>A	NM_000243.2	NP_000234.1:p.(Arg348His)	NC_000016.9:g.3299648C>T	VUS	1 lab	7ac99f4d63
8:41574432 ANK1 C>T	8	41574432	41574432	C	T	ANK1	c.1404+39G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41574432C>T	(Likely) benign	1 lab	7acaf0b880
1:158637727 SPTA1 A>T	1	158637727	158637727	A	T	SPTA1	c.1959T>A	NM_003126.3	NP_003117.2:p.(Tyr653Ter)	NC_000001.10:g.158637727A>T	(Likely) pathogenic	1 lab	7acc2657d7
16:68849589 CDH1 G>C	16	68849589	68849589	G	C	CDH1	c.1492G>C	NM_004360.3	NP_004351.1:p.(Asp498His)	NC_000016.9:g.68849589G>C	VUS	1 lab	7acca28645
2:20145622 WDR35 C>T	2	20145622	20145622	C	T	WDR35	c.1803G>A	NM_001006657.2	NP_001006658.1:p.(Trp601Ter)	NC_000002.11:g.20145622C>T	(Likely) pathogenic	1 lab	7ad1f19768
18:56414932 MALT1 A>G	18	56414932	56414932	A	G	MALT1	c.2333A>G	NM_006785.4	NP_006776.1:p.(His778Arg)	NC_000018.9:g.56414932A>G	(Likely) benign	1 lab	7ad3937742
7:117398013 CTTNBP2 A>G	7	117398013	117398013	A	G	CTTNBP2	c.3184T>C	NM_033427.3	NP_219499.1:p.(Trp1062Arg)	NC_000007.13:g.117398013A>G	VUS	1 lab	d218238312
12:53452130 TNS2 A>G	12	53452130	53452130	A	G	TNS2	c.1156A>G	NM_015319.2	NP_056134.2:p.(Thr386Ala)	NC_000012.11:g.53452130A>G	(Likely) benign	1 lab	7ae5b2740c
14:21778767 RPGRIP1 GTACT>G	14	21778767	21778773	GTACT	G	RPGRIP1	c.930+4_930+7del	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21778770_21778773del	(Likely) benign	1 lab	7aeefbb889
13:39266600 FREM2 G>A	13	39266600	39266600	G	A	FREM2	c.5119G>A	NM_207361.6	NP_997244.4:p.(Gly1707Arg)	NC_000013.10:g.39266600G>A	VUS	1 lab	7af20a4cef
X:32407653 DMD G>C	X	32407653	32407653	G	C	DMD	c.4483C>G	NM_004006.3	NP_003997.2:p.(Gln1495Glu)	NC_000023.10:g.32407653G>C	VUS	1 lab	d2826fa7b3
4:166986900 TLL1 A>G	4	166986900	166986900	A	G	TLL1	c.2073A>G	NM_012464.5	NP_036596.3:p.(Lys691=)	NC_000004.11:g.166986900A>G	(Likely) benign	1 lab	7af5809d8e
1:158632603 SPTA1 G>T	1	158632603	158632603	G	T	SPTA1	c.2353C>A	NM_003126.3	NP_003117.2:p.(Arg785=)	NC_000001.10:g.158632603G>T	(Likely) benign	1 lab	7af8aa0d88
16:2549788 TBC1D24 C>T	16	2549788	2549788	C	T	TBC1D24	c.1207-48C>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2549788C>T	(Likely) benign	1 lab	7afbcf023f
19:2108756 AP3D1 C>T	19	2108756	2108756	C	T	AP3D1	c.3482G>A	NM_001261826.3	NP_001248755.1:p.(Arg1161Gln)	NC_000019.9:g.2108756C>T	(Likely) benign	1 lab	7afcaefe06
16:81922821 PLCG2 A>T	16	81922821	81922821	A	T	PLCG2	c.810A>T	NM_002661.3	NP_002652.2:p.(Thr270=)	NC_000016.9:g.81922821A>T	(Likely) benign	1 lab	7b018a631d
1:236923108 ACTN2 T>C	1	236923108	236923108	T	C	ACTN2	c.2367+19T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236923108T>C	(Likely) benign	1 lab	d226870701
2:166908501 SCN1A GA>G	2	166908501	166908504	GA	G	SCN1A	c.695-4del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166908504del	(Likely) benign	1 lab	7b053e2cd7
1:247587806 NLRP3 C>T	1	247587806	247587806	C	T	NLRP3	c.1055C>T	NM_001243133.2	NP_001230062.1:p.(Ala352Val)	NC_000001.10:g.247587806C>T	(Likely) pathogenic	1 lab	7b0a0805ef
16:2158468 PKD1 CGACA>C	16	2158468	2158472	CGACA	C	PKD1	c.6696_6699del	NM_001009944.3	NP_001009944.3:p.(Phe2232LeufsTer9)	NC_000016.9:g.2158469_2158472del	(Likely) pathogenic	1 lab	7b0bf69b83
X:13754534 OFD1 C>T	X	13754534	13754534	C	T	OFD1	c.112-63C>T	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13754534C>T	(Likely) benign	1 lab	7b0c1f6694
15:25600931 UBE3A GT>G	15	25600931	25600941	GT	G	UBE3A	c.2124+107del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25600941del	(Likely) benign	1 lab	7b0e903479
3:39228941 XIRP1 C>T	3	39228941	39228941	C	T	XIRP1	c.1996G>A	NM_194293.4	NP_919269.2:p.(Glu666Lys)	NC_000003.11:g.39228941C>T	(Likely) benign	1 lab	7b13b48158
11:118343383 KMT2A G>C	11	118343383	118343383	G	C	KMT2A	c.1509G>C	NM_001197104.1	NP_001184033.1:p.(Arg503=)	NC_000011.9:g.118343383G>C	(Likely) benign	1 lab	7b1b951e4b
X:100652841 GLA G>A	X	100652841	100652841	G	A	GLA	c.1246C>T	NM_000169.2	NP_000160.1:p.(Gln416Ter)	NC_000023.10:g.100652841G>A	VUS	1 lab	7b1d00b088
17:7350923 CHRNB1 C>T	17	7350923	7350923	C	T	CHRNB1	c.564C>T	NM_000747.3	NP_000738.2:p.(Asp188=)	NC_000017.10:g.7350923C>T	(Likely) benign	1 lab	7b21761369
4:120107328 MYOZ2 C>A	4	120107328	120107328	C	A	MYOZ2	c.768C>A	NM_016599.4	NP_057683.1:p.(Thr256=)	NC_000004.11:g.120107328C>A	(Likely) benign	1 lab	7b229ce22d
6:32065081 TNXB G>A	6	32065081	32065081	G	A	TNXB	c.549C>T	NM_019105.8	NP_061978.6:p.(Ala183=)	NC_000006.11:g.32065081G>A	(Likely) benign	1 lab	7b282f58c3
1:1454287 ATAD3A C>T	1	1454287	1454287	C	T	ATAD3A	c.445-14C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1454287C>T	(Likely) benign	1 lab	7b2fe7e645
11:118211108 CD3D C>T	11	118211108	118211108	C	T	CD3D	c.256G>A	NM_000732.4	NP_000723.1:p.(Val86Met)	NC_000011.9:g.118211108C>T	(Likely) benign	1 lab	7b3497c3bc
20:60887592 LAMA5 T>TGGGGAAGC	20	60887592	60887605	T	TGGGGAAGC	LAMA5	c.9228-12_9228-5dup	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60887598_60887605dup	(Likely) benign	1 lab	7b37f52959
3:136016892 PCCB G>A	3	136016892	136016892	G	A	PCCB	c.862G>A	NM_000532.5	NP_000523.2:p.(Val288Ile)	NC_000003.11:g.136016892G>A	(Likely) benign	1 lab	7b3d7e23a0
3:52485429 TNNC1 G>A	3	52485429	52485429	G	A	TNNC1	c.432C>T	NM_003280.2	NP_003271.1:p.(Asn144=)	NC_000003.11:g.52485429G>A	(Likely) benign	1 lab	7b3e602f45
14:105172452 INF2 G>A	14	105172452	105172452	G	A	INF2	c.782G>A	NM_022489.3	NP_071934.3:p.(Arg261Gln)	NC_000014.8:g.105172452G>A	(Likely) benign	1 lab	7b43409fb3
12:88471219 CEP290 T>C	12	88471219	88471219	T	C	CEP290	c.5587-98A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88471219T>C	(Likely) benign	1 lab	7b471bf1e3
15:93523912 CHD2 G>A	15	93523912	93523912	G	A	CHD2	c.2877-133G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93523912G>A	(Likely) benign	1 lab	7b503bdde9
2:216269176 FN1 G>A	2	216269176	216269176	G	A	FN1	c.3189C>T	NM_212482.2	NP_997647.1:p.(Thr1063=)	NC_000002.11:g.216269176G>A	(Likely) benign	1 lab	7b6692569a
17:73832710 UNC13D C>A	17	73832710	73832710	C	A	UNC13D	c.1241G>T	NM_199242.2	NP_954712.1:p.(Arg414Leu)	NC_000017.10:g.73832710C>A	VUS	1 lab	7b6a492f2b
15:31229463 FAN1 G>A	15	31229463	31229463	G	A	FAN1	c.*3+1G>A	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31229463G>A	(Likely) benign	1 lab	7b6c5ebfc9
18:32431798 DTNA C>A	18	32431798	32431798	C	A	DTNA	c.1177C>A	NM_001198939.2	NP_001185868.1:p.(Pro393Thr)	NC_000018.9:g.32431798C>A	(Likely) benign	1 lab	7b6d75ee80
2:44023106 DYNC2LI1 T>C	2	44023106	44023106	T	C	DYNC2LI1	c.576+9T>C	NM_016008.4	NP_057092.2:p.?	NC_000002.11:g.44023106T>C	(Likely) benign	1 lab	7b7a1de2d5
1:201332504 TNNT2 TCTC>T	1	201332504	201332516	TCTC	T	TNNT2	c.517_519del	NM_001276345.2	NP_001263274.1:p.(Glu173del)	NC_000001.10:g.201332514_201332516del	(Likely) pathogenic	1 lab	7b7a4c2a48
16:66527068 BEAN1 G>A	16	66527068	66527068	G	A	BEAN1	c.351G>A	NM_001197225.4	NP_001184154.1:p.(Ala117=)	NC_000016.9:g.66527068G>A	(Likely) benign	1 lab	7b7dca46fe
6:108197786 SEC63 C>T	6	108197786	108197786	C	T	SEC63	c.2016G>A	NM_007214.5	NP_009145.1:p.(Thr672=)	NC_000006.11:g.108197786C>T	(Likely) benign	1 lab	7b84b31074
18:47488655 MYO5B A>G	18	47488655	47488655	A	G	MYO5B	c.1526T>C	NM_001080467.3	NP_001073936.1:p.(Leu509Pro)	NC_000018.9:g.47488655A>G	(Likely) pathogenic	1 lab	7b857e5d6f
2:179440728 TTN TG>T	2	179440728	179440729	TG	T	TTN	c.70130del	NM_001267550.2	NP_001254479.2:p.(Thr23377AsnfsTer9)	NC_000002.11:g.179440729del	(Likely) pathogenic	1 lab	7b8adad8da
1:235971738 LYST C>T	1	235971738	235971738	C	T	LYST	c.2363+17G>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235971738C>T	(Likely) benign	1 lab	7b8c73378b
12:110013840 MVK T>C	12	110013840	110013840	T	C	MVK	c.116T>C	NM_000431.2	NP_000422.1:p.(Leu39Pro)	NC_000012.11:g.110013840T>C	(Likely) pathogenic	1 lab	7b92ea8d8d
1:247587667 NLRP3 C>A	1	247587667	247587667	C	A	NLRP3	c.916C>A	NM_001243133.2	NP_001230062.1:p.(Gln306Lys)	NC_000001.10:g.247587667C>A	(Likely) pathogenic	1 lab	7b934d1354
12:110029071 MVK T>C	12	110029071	110029071	T	C	MVK	c.794T>C	NM_000431.2	NP_000422.1:p.(Leu265Pro)	NC_000012.11:g.110029071T>C	(Likely) pathogenic	1 lab	7b9453b9da
16:9892019 GRIN2A A>G	16	9892019	9892019	A	G	GRIN2A	c.2356+115T>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9892019A>G	(Likely) benign	1 lab	7b99b055d2
X:152959459 SLC6A8 G>C	X	152959459	152959459	G	C	SLC6A8	c.1241G>C	NM_005629.4	NP_005620.1:p.(Gly414Ala)	NC_000023.10:g.152959459G>C	VUS	1 lab	d2274872de
1:201047174 CACNA1S G>A	1	201047174	201047174	G	A	CACNA1S	c.1452C>T	NM_000069.3	NP_000060.2:p.(Tyr484=)	NC_000001.10:g.201047174G>A	(Likely) benign	1 lab	7ba003d7e5
1:11106951 MASP2 G>A	1	11106951	11106951	G	A	MASP2	c.231C>T	NM_006610.4	NP_006601.2:p.(Val77=)	NC_000001.10:g.11106951G>A	(Likely) benign	1 lab	7ba04a46e7
9:108337376 FKTN G>C	9	108337376	108337376	G	C	FKTN	c.63G>C	NM_001079802.1	NP_001073270.1:p.(Leu21=)	NC_000009.11:g.108337376G>C	(Likely) benign	1 lab	7ba09db546
3:196198856 RNF168 T>C	3	196198856	196198856	T	C	RNF168	c.1550A>G	NM_152617.3	NP_689830.2:p.(Lys517Arg)	NC_000003.11:g.196198856T>C	(Likely) benign	1 lab	7ba17a4b68
1:196883807 CFHR4 T>C	1	196883807	196883807	T	C	CFHR4	c.1357+6T>C	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196883807T>C	(Likely) benign	1 lab	7ba393c269
12:133235865 POLE T>TGTCACGGAGAGGTGAGGGCTCCCCCC	12	133235865	133235867	T	TGTCACGGAGAGGTGAGGGCTCCCCCC	POLE	c.3275+15_3275+16insGGGGGGAGCCCTCACCTCTCCGTGAC	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133235866_133235867insTCACGGAGAGGTGAGGGCTCCCCCCG	(Likely) benign	1 lab	7ba4e20ef7
6:32010333 TNXB C>T	6	32010333	32010333	C	T	TNXB	c.12103G>A	NM_019105.8	NP_061978.6:p.(Gly4035Arg)	NC_000006.11:g.32010333C>T	VUS	1 lab	7ba566a764
14:23853674 MYH6 G>A	14	23853674	23853674	G	A	MYH6	c.5542C>T	NM_002471.4	NP_002462.2:p.(Arg1848Cys)	NC_000014.8:g.23853674G>A	VUS	1 lab	d22e27c662
1:236911036 ACTN2 A>T	1	236911036	236911036	A	T	ACTN2	c.1476A>T	NM_001103.3	NP_001094.1:p.(Arg492=)	NC_000001.10:g.236911036A>T	(Likely) benign	1 lab	7ba9e1a340
1:146737572 CHD1L AT>A	1	146737572	146737581	AT	A	CHD1L	c.740-10del	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146737581del	(Likely) benign	1 lab	7ba9e34ee3
16:81962341 PLCG2 A>G	16	81962341	81962341	A	G	PLCG2	c.2581+112A>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81962341A>G	(Likely) benign	1 lab	7baf00be9e
15:93515686 CHD2 C>G	15	93515686	93515686	C	G	CHD2	c.2505+39C>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93515686C>G	(Likely) benign	1 lab	7bb2613384
2:179622410 TTN A>G	2	179622410	179622410	A	G	TTN	c.10399T>C	NM_133432.3	NP_597676.3:p.(Phe3467Leu)	NC_000002.11:g.179622410A>G	(Likely) benign	1 lab	7bb2fcc508
5:90004776 ADGRV1 A>C	5	90004776	90004776	A	C	ADGRV1	c.8824+50A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90004776A>C	(Likely) benign	1 lab	7bb839ce9d
1:11319488 MTOR G>A	1	11319488	11319488	G	A	MTOR	c.-14-8C>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11319488G>A	(Likely) benign	1 lab	7bbda75d91
10:72195717 NODAL G>A	10	72195717	72195717	G	A	NODAL	c.216C>T	NM_018055.5	NP_060525.3:p.(Asn72=)	NC_000010.10:g.72195717G>A	(Likely) benign	1 lab	7bc299ef79
19:36321778 NPHS1 C>T	19	36321778	36321778	C	T	NPHS1	c.3562G>A	NM_004646.3	NP_004637.1:p.(Ala1188Thr)	NC_000019.9:g.36321778C>T	(Likely) benign	1 lab	7bc624423d
11:108203769 ATM G>A	11	108203769	108203769	G	A	ATM	c.7927+142G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108203769G>A	(Likely) benign	1 lab	7bcf3b4d8f
6:49574411 RHAG C>A	6	49574411	49574411	C	A	RHAG	c.1212+150G>T	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49574411C>A	(Likely) benign	1 lab	7bd07f609a
18:60025461 TNFRSF11A T>G	18	60025461	60025461	T	G	TNFRSF11A				NC_000018.9:g.60025461T>G	(Likely) benign	1 lab	7bd2710aa3
12:111066587 TCTN1 C>A	12	111066587	111066587	C	A	TCTN1	c.488C>A	NM_024549.6	NP_078825.2:p.(Ser163Tyr)	NC_000012.11:g.111066587C>A	(Likely) benign	1 lab	7bd9775054
15:80450512 FAH G>T	15	80450512	80450512	G	T	FAH	c.192G>T	NM_000137.4	NP_000128.1:p.(Gln64His)	NC_000015.9:g.80450512G>T	(Likely) pathogenic	1 lab	7bd9cb5459
14:23855851 MYH6 A>T	14	23855851	23855851	A	T	MYH6	c.4651-19T>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23855851A>T	(Likely) benign	1 lab	7bdcf57dad
22:32193690 DEPDC5 G>T	22	32193690	32193690	G	T	DEPDC5	c.871+1G>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32193690G>T	(Likely) pathogenic	1 lab	7be3c85717
14:23853939 MYH6 G>A	14	23853939	23853939	G	A	MYH6	c.5290-13C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23853939G>A	(Likely) benign	1 lab	7be5663004
19:41197996 COQ8B C>T	19	41197996	41197996	C	T	COQ8B	c.1579G>A	NM_024876.4	NP_079152.3:p.(Ala527Thr)	NC_000019.9:g.41197996C>T	(Likely) benign	1 lab	7c403a0bb0
13:30829757 KATNAL1 CAA>C	13	30829757	30829776	CAA	C	KATNAL1	c.324-7_324-6del	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829775_30829776del	(Likely) benign	1 lab	7beb0b565a
12:103249164 PAH C>T	12	103249164	103249164	C	T	PAH	c.510-54G>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103249164C>T	(Likely) benign	1 lab	7beb44bf32
18:32457779 DTNA T>C	18	32457779	32457779	T	C	DTNA	c.1753+7T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32457779T>C	(Likely) benign	1 lab	7beb61a559
4:82013619 PRKG2 AAAGGAAGG>A	4	82013619	82013667	AAAGGAAGG	A	PRKG2	c.2127-21_2127-14del	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82013660_82013667del	(Likely) benign	1 lab	7bf0f5577b
X:99905898 SRPX2 T>G	X	99905898	99905898	T	G	SRPX2	c.163+36T>G	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99905898T>G	(Likely) benign	1 lab	7bf1d27f22
12:88483059 CEP290 GCT>G	12	88483059	88483063	GCT	G	CEP290	c.3777_3778del	NM_025114.4	NP_079390.3:p.(Arg1259SerfsTer16)	NC_000012.11:g.88483062_88483063del	(Likely) pathogenic	1 lab	7bf3ec6f82
17:73723757 ITGB4 G>A	17	73723757	73723757	G	A	ITGB4	c.290G>A	NM_000213.5	NP_000204.3:p.(Arg97Gln)	NC_000017.10:g.73723757G>A	(Likely) benign	1 lab	7bf90aef05
2:166226669 SCN2A A>G	2	166226669	166226669	A	G	SCN2A	c.3709A>G	NM_021007.3	NP_066287.2:p.(Thr1237Ala)	NC_000002.11:g.166226669A>G	VUS	1 lab	7bfa2d17f2
15:45361011 SORD C>T	15	45361011	45361011	C	T	SORD	c.611-64C>T	NM_003104.6	NP_003095.2:p.?	NC_000015.9:g.45361011C>T	(Likely) benign	1 lab	7bfb7bc4c7
6:32810884 PSMB8 G>A	6	32810884	32810884	G	A	PSMB8	c.148-18C>T	NM_148919.4	NP_683720.2:p.?	NC_000006.11:g.32810884G>A	(Likely) benign	1 lab	7bfd2e2821
19:6711168 C3 C>T	19	6711168	6711168	C	T	C3	c.1309G>A	NM_000064.2	NP_000055.2:p.(Ala437Thr)	NC_000019.9:g.6711168C>T	VUS	1 lab	7bfe7a6cfc
1:150065724 VPS45 C>T	1	150065724	150065724	C	T	VPS45	c.1473C>T	NM_007259.4	NP_009190.2:p.(Gly491=)	NC_000001.10:g.150065724C>T	(Likely) benign	1 lab	7c00254245
15:32983972 SCG5 G>A	15	32983972	32983972	G	A	SCG5	c.543+8G>A	NM_001144757.2	NP_001138229.1:p.?	NC_000015.9:g.32983972G>A	(Likely) benign	1 lab	7c036b4b48
1:158655061 SPTA1 C>G	1	158655061	158655061	C	G	SPTA1	c.101G>C	NM_003126.3	NP_003117.2:p.(Arg34Pro)	NC_000001.10:g.158655061C>G	(Likely) pathogenic	1 lab	7c0505b3ba
16:1204051 CACNA1H CGGCGGGGGGCGGGGGGCGGGG>C	16	1204051	1204076	CGGCGGGGGGCGGGGGGCGGGG	C	CACNA1H	c.299+20_299+40del	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1204056_1204076del	(Likely) benign	1 lab	7c08c9c410
22:19885622 TXNRD2 G>A	22	19885622	19885622	G	A	TXNRD2	c.714C>T	NM_006440.5	NP_006431.2:p.(Thr238=)	NC_000022.10:g.19885622G>A	(Likely) benign	1 lab	d2339669d9
11:118342802 KMT2A GA>G	11	118342802	118342805	GA	G	KMT2A	c.931del	NM_001197104.2	NP_001184033.1:p.(Arg311GlyfsTer2)	NC_000011.9:g.118342805del	(Likely) pathogenic	1 lab	d233adb898
7:73474865 ELN CT>C	7	73474865	73474866	CT	C	ELN	c.1747+35del	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73474866del	(Likely) pathogenic	1 lab	7c0dc07407
8:1871117 ARHGEF10 GC>G	8	1871117	1871118	GC	G	ARHGEF10	c.2144-12del	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1871118del	(Likely) benign	1 lab	7c1447ece8
5:169141081 DOCK2 C>T	5	169141081	169141081	C	T	DOCK2	c.1709C>T	NM_004946.3	NP_004937.1:p.(Ser570Phe)	NC_000005.9:g.169141081C>T	(Likely) benign	1 lab	7c16a0f583
16:2215942 TRAF7 G>A	16	2215942	2215942	G	A	TRAF7	c.139+5G>A	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2215942G>A	(Likely) benign	1 lab	d23673c9fd
17:43535635 PLEKHM1 C>G	17	43535635	43535635	C	G	PLEKHM1	c.1479G>C	NM_014798.3	NP_055613.1:p.(Ala493=)	NC_000017.10:g.43535635C>G	(Likely) benign	1 lab	7c1a544179
1:247588451 NLRP3 A>C	1	247588451	247588451	A	C	NLRP3	c.1700A>C	NM_001243133.2	NP_001230062.1:p.(Glu567Ala)	NC_000001.10:g.247588451A>C	(Likely) pathogenic	1 lab	7c2349f25f
14:53331183 FERMT2 G>A	14	53331183	53331183	G	A	FERMT2	c.1538C>T	NM_001134999.1	NP_001128471.1:p.(Thr513Met)	NC_000014.8:g.53331183G>A	(Likely) benign	1 lab	7c241fa943
7:4829458 AP5Z1 C>T	7	4829458	4829458	C	T	AP5Z1	c.1708-5C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4829458C>T	(Likely) benign	1 lab	7c294bdd86
18:47462659 MYO5B G>T	18	47462659	47462659	G	T	MYO5B	c.1966C>A	NM_001080467.3	NP_001073936.1:p.(Arg656Ser)	NC_000018.9:g.47462659G>T	(Likely) pathogenic	1 lab	7c3090d59c
4:79205435 FRAS1 C>T	4	79205435	79205435	C	T	FRAS1	c.1256-124C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79205435C>T	(Likely) benign	1 lab	7c30cccab3
14:23883219 MYH7 C>T	14	23883219	23883219	C	T	MYH7	c.5652G>A	NM_000257.2	NP_000248.2:p.(Glu1884=)	NC_000014.8:g.23883219C>T	VUS	1 lab	7c319a3f60
2:175432569 WIPF1 G>A	2	175432569	175432569	G	A	WIPF1	c.1342+20C>T	NM_001077269.1	NP_001070737.1:p.?	NC_000002.11:g.175432569G>A	(Likely) benign	1 lab	7c3844c63d
8:145739101 RECQL4 TGAG>T	8	145739101	145739107	TGAG	T	RECQL4	c.2059-8_2059-6del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145739105_145739107del	(Likely) benign	1 lab	7c386abc9c
2:166764313 TTC21B T>G	2	166764313	166764313	T	G	TTC21B	c.2462-19A>C	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166764313T>G	(Likely) benign	1 lab	7c3923a706
4:79285354 FRAS1 G>A	4	79285354	79285354	G	A	FRAS1	c.2722+146G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79285354G>A	(Likely) benign	1 lab	7c39a9984b
4:151771912 LRBA A>C	4	151771912	151771912	A	C	LRBA	c.3968T>G	NM_006726.4	NP_006717.2:p.(Leu1323Ter)	NC_000004.11:g.151771912A>C	(Likely) pathogenic	1 lab	7c39fbb11a
2:227890504 COL4A4 A>G	2	227890504	227890504	A	G	COL4A4	c.4090+14T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227890504A>G	(Likely) benign	1 lab	7c3ea897b1
5:77524068 AP3B1 T>TA	5	77524068	77524077	T	TA	AP3B1	c.280-6dup	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77524077dup	(Likely) benign	1 lab	7c46914c4c
1:158647669 SPTA1 T>C	1	158647669	158647669	T	C	SPTA1	c.813-45A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158647669T>C	(Likely) benign	1 lab	7c516f7c0c
7:150647371 KCNH2 T>C	7	150647371	150647371	T	C	KCNH2	c.2283A>G	NM_000238.3	NP_000229.1:p.(Thr761=)	NC_000007.13:g.150647371T>C	(Likely) benign	1 lab	7c54bf2c04
X:70787596 OGT A>G	X	70787596	70787596	A	G	OGT	c.2836A>G	NM_181672.3	NP_858058.1:p.(Met946Val)	NC_000023.10:g.70787596A>G	VUS	1 lab	d23b39f0ee
19:7705018 STXBP2 ATG>A	19	7705018	7705028	ATG	A	STXBP2	c.246+334_246+335del	NM_006949.4	NP_008880.2:p.?	NC_000019.9:g.7705027_7705028del	(Likely) benign	1 lab	7c5e0efe19
1:161495367 HSPA6 C>T	1	161495367	161495367	C	T	HSPA6	c.919C>T	NM_002155.5	NP_002146.2:p.(Leu307=)	NC_000001.10:g.161495367C>T	(Likely) benign	1 lab	7c6067647e
5:90025687 ADGRV1 ATT>A	5	90025687	90025700	ATT	A	ADGRV1	c.10549+118_10549+119del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90025699_90025700del	(Likely) benign	1 lab	7c65c80e58
16:29824835 PRRT2 C>T	16	29824835	29824835	C	T	PRRT2	c.460C>T	NM_145239.2	NP_660282.2:p.(Pro154Ser)	NC_000016.9:g.29824835C>T	(Likely) benign	1 lab	7c707954bd
19:17945361 JAK3 A>C	19	17945361	17945361	A	C	JAK3	c.2350+19T>G	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17945361A>C	(Likely) benign	1 lab	7c71ba81b5
14:24619255 RNF31 G>A	14	24619255	24619255	G	A	RNF31	c.810-15G>A	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24619255G>A	(Likely) benign	1 lab	7c7d38547b
15:48826355 FBN1 A>C	15	48826355	48826355	A	C	FBN1	c.784T>G	NM_000138.4	NP_000129.3:p.(Cys262Gly)	NC_000015.9:g.48826355A>C	VUS	1 lab	7c80fd1822
15:77323535 PSTPIP1 A>C	15	77323535	77323535	A	C	PSTPIP1	c.657A>C	NM_003978.3	NP_003969.2:p.(Gln219His)	NC_000015.9:g.77323535A>C	(Likely) benign	1 lab	7c82d7ea83
20:8702808 PLCB1 G>GA	20	8702808	8702814	G	GA	PLCB1	c.1514-187dup	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8702814dup	(Likely) benign	1 lab	7c88da1414
8:68340125 CPA6 G>T	8	68340125	68340125	G	T	CPA6	c.1126+157C>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68340125G>T	(Likely) benign	1 lab	7c8ca8cc59
22:32445981 SLC5A1 C>T	22	32445981	32445981	C	T	SLC5A1	c.187C>T	NM_000343.4	NP_000334.1:p.(Arg63Ter)	NC_000022.10:g.32445981C>T	(Likely) pathogenic	1 lab	7c92dc9ca2
8:41585579 ANK1 G>A	8	41585579	41585579	G	A	ANK1	c.229-55C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41585579G>A	(Likely) benign	1 lab	7c931ef671
9:130578241 ENG C>T	9	130578241	130578241	C	T	ENG	c.1833G>A	NM_000118.3	NP_000109.1:p.(Trp611Ter)	NC_000009.11:g.130578241C>T	(Likely) pathogenic	1 lab	7c954fa3d7
2:220022321 NHEJ1 G>A	2	220022321	220022321	G	A	NHEJ1	c.263C>T	NM_024782.2	NP_079058.1:p.(Ala88Val)	NC_000002.11:g.220022321G>A	(Likely) benign	1 lab	7c958f845d
1:237895238 RYR2 G>A	1	237895238	237895238	G	A	RYR2	c.10936-108G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237895238G>A	(Likely) benign	1 lab	7c97fb235a
21:17198649 USP25 A>G	21	17198649	17198649	A	G	USP25	c.1431A>G	NM_001283041.2	NP_001269970.1:p.(Pro477=)	NC_000021.8:g.17198649A>G	(Likely) benign	1 lab	7c99e107fa
22:32198614 DEPDC5 T>C	22	32198614	32198614	T	C	DEPDC5	c.947-76T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32198614T>C	(Likely) benign	1 lab	7ca28cecf9
20:8698305 PLCB1 T>C	20	8698305	8698305	T	C	PLCB1	c.1336-13T>C	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8698305T>C	(Likely) benign	1 lab	7ca2ba34a2
4:79432256 FRAS1 A>G	4	79432256	79432256	A	G	FRAS1	c.9781-172A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79432256A>G	(Likely) benign	1 lab	7d9bb9197c
9:131671231 LRRC8A G>A	9	131671231	131671231	G	A	LRRC8A	c.1788G>A	NM_001127244.1	NP_001120716.1:p.(Leu596=)	NC_000009.11:g.131671231G>A	(Likely) benign	1 lab	7cae25aca2
9:138642871 KCNT1 G>A	9	138642871	138642871	G	A	KCNT1	c.418G>A	NM_020822.2	NP_065873.2:p.(Ala140Thr)	NC_000009.11:g.138642871G>A	(Likely) benign	1 lab	7cb72cd12e
2:179439947 TTN T>C	2	179439947	179439947	T	C	TTN	c.70912A>G	NM_001267550.2	NP_001254479.2:p.(Ile23638Val)	NC_000002.11:g.179439947T>C	VUS	1 lab	d23d56dec7
2:219924998 IHH G>C	2	219924998	219924998	G	C	IHH	c.192C>G	NM_002181.4	NP_002172.2:p.(Ser64Arg)	NC_000002.11:g.219924998G>C	VUS	1 lab	d23f4e2603
1:160324091 NCSTN C>T	1	160324091	160324091	C	T	NCSTN	c.1352+11C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160324091C>T	(Likely) benign	1 lab	7cc2e7ee19
2:27305025 EMILIN1 C>T	2	27305025	27305025	C	T	EMILIN1	c.586C>T	NM_007046.4	NP_008977.1:p.(Arg196Trp)	NC_000002.11:g.27305025C>T	VUS	1 lab	7ccb62a692
1:158609300 SPTA1 C>G	1	158609300	158609300	C	G	SPTA1	c.4980+72G>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158609300C>G	(Likely) benign	1 lab	7ccbea80b0
X:154128148 F8 C>T	X	154128148	154128148	C	T	F8	c.6266G>A	NM_000132.3	NP_000123.1:p.(Trp2089Ter)	NC_000023.10:g.154128148C>T	(Likely) pathogenic	1 lab	7cd1cd6c8e
10:60577396 BICC1 A>G	10	60577396	60577396	A	G	BICC1	c.2608A>G	NM_001080512.3	NP_001073981.1:p.(Asn870Asp)	NC_000010.10:g.60577396A>G	(Likely) benign	1 lab	7cd6322021
5:485314 SLC9A3 C>T	5	485314	485314	C	T	SLC9A3	c.708G>A	NM_004174.4	NP_004165.2:p.(Ala236=)	NC_000005.9:g.485314C>T	(Likely) benign	1 lab	7cd82811d6
X:153220580 HCFC1 G>A	X	153220580	153220580	G	A	HCFC1	c.3270C>T	NM_005334.3	NP_005325.2:p.(Thr1090=)	NC_000023.10:g.153220580G>A	(Likely) benign	1 lab	7cd8497ce0
16:88712600 CYBA G>A	16	88712600	88712600	G	A	CYBA				NC_000016.9:g.88712600G>A	(Likely) benign	1 lab	7cda061490
7:26412117 SNX10 C>T	7	26412117	26412117	C	T	SNX10	c.531C>T	NM_001199835.1	NP_001186764.1:p.(Ser177=)	NC_000007.13:g.26412117C>T	(Likely) benign	1 lab	7cdb896dd1
1:158647520 SPTA1 T>G	1	158647520	158647520	T	G	SPTA1	c.917A>C	NM_003126.3	NP_003117.2:p.(His306Pro)	NC_000001.10:g.158647520T>G	VUS	1 lab	7cdc77e95e
1:234744962 IRF2BP2 C>T	1	234744962	234744962	C	T	IRF2BP2	c.279G>A	NM_182972.2	NP_892017.2:p.(Leu93=)	NC_000001.10:g.234744962C>T	(Likely) benign	1 lab	7cdf666996
8:144998001 PLEC C>T	8	144998001	144998001	C	T	PLEC	c.6507G>A	NM_201380.4	NP_958782.1:p.(Ser2169=)	NC_000008.10:g.144998001C>T	(Likely) benign	1 lab	7ce0b254df
10:27382639 ANKRD26 T>C	10	27382639	27382639	T	C	ANKRD26	c.332A>G	NM_014915.2	NP_055730.2:p.(Asn111Ser)	NC_000010.10:g.27382639T>C	(Likely) benign	1 lab	7ce1bd83c0
17:10555833 MYH3 C>T	17	10555833	10555833	C	T	MYH3	c.252G>A	NM_002470.4	NP_002461.2:p.(Lys84=)	NC_000017.10:g.10555833C>T	(Likely) benign	1 lab	7ce1e846dd
X:103042822 PLP1 C>A	X	103042822	103042822	C	A	PLP1	c.549C>A	NM_000533.5	NP_000524.3:p.(Thr183=)	NC_000023.10:g.103042822C>A	(Likely) benign	1 lab	7ce425c5fd
3:39228043 XIRP1 T>G	3	39228043	39228043	T	G	XIRP1	c.2894A>C	NM_194293.4	NP_919269.2:p.(His965Pro)	NC_000003.11:g.39228043T>G	(Likely) benign	1 lab	7ce54091d2
15:57967220 GCOM1 G>A	15	57967220	57967220	G	A	GCOM1	c.1258G>A	NM_001285900.3	NP_001272829.1:p.(Glu420Lys)	NC_000015.9:g.57967220G>A	VUS	1 lab	7ce836c256
6:144507838 STX11 A>G	6	144507838	144507838	A	G	STX11	c.74A>G	NM_003764.3	NP_003755.2:p.(Glu25Gly)	NC_000006.11:g.144507838A>G	(Likely) benign	1 lab	7ce87148bc
14:102964007 TECPR2 C>T	14	102964007	102964007	C	T	TECPR2	c.4032C>T	NM_014844.5	NP_055659.2:p.(Pro1344=)	NC_000014.8:g.102964007C>T	(Likely) benign	1 lab	7cee4112aa
22:36697725 MYH9 T>C	22	36697725	36697725	T	C	MYH9	c.2500-14A>G	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36697725T>C	(Likely) benign	1 lab	7cee9b58a2
9:14869110 FREM1 C>G	9	14869110	14869110	C	G	FREM1	c.-135G>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14869110C>G	(Likely) benign	1 lab	7cefdec56e
7:147914200 CNTNAP2 CTT>C	7	147914200	147914213	CTT	C	CNTNAP2	c.3011-168_3011-167del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147914212_147914213del	(Likely) benign	1 lab	7ceff5ce50
21:47419012 COL6A1 C>T	21	47419012	47419012	C	T	COL6A1	c.1675-55C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47419012C>T	(Likely) benign	1 lab	7e28e77574
1:57425744 C8B C>G	1	57425744	57425744	C	G	C8B	c.198G>C	NM_000066.2	NP_000057.1:p.(Glu66Asp)	NC_000001.10:g.57425744C>G	(Likely) benign	1 lab	7cf0bbb272
9:128064242 GAPVD1 CT>C	9	128064242	128064259	CT	C	GAPVD1	c.186-3del	NM_001282680.3	NP_001269609.1:p.?	NC_000009.11:g.128064259del	(Likely) benign	1 lab	7cf245b6a8
5:147499616 SPINK5 C>T	5	147499616	147499616	C	T	SPINK5	c.2358C>T	NM_001127698.2	NP_001121170.1:p.(Leu786=)	NC_000005.9:g.147499616C>T	(Likely) benign	1 lab	d2405dc068
13:32911340 BRCA2 G>A	13	32911340	32911340	G	A	BRCA2	c.2848G>A	NM_000059.3	NP_000050.2:p.(Val950Ile)	NC_000013.10:g.32911340G>A	(Likely) benign	1 lab	7cf66709db
10:43601973 RET G>A	10	43601973	43601973	G	A	RET	c.1017G>A	NM_020975.4	NP_066124.1:p.(Ser339=)	NC_000010.10:g.43601973G>A	(Likely) benign	1 lab	7cf8ab99ec
2:110962479 NPHP1 G>A	2	110962479	110962479	G	A	NPHP1	c.67C>T	NM_000272.4	NP_000263.2:p.(Gln23Ter)	NC_000002.11:g.110962479G>A	(Likely) pathogenic	1 lab	7d0037fb1a
2:143718359 KYNU C>A	2	143718359	143718359	C	A	KYNU	c.729+20C>A	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143718359C>A	(Likely) benign	1 lab	7d009b5765
5:176637201 NSD1 A>C	5	176637201	176637201	A	C	NSD1	c.1801A>C	NM_022455.5	NP_071900.2:p.(Lys601Gln)	NC_000005.9:g.176637201A>C	VUS	1 lab	d243363a93
20:52781251 CYP24A1 G>C	20	52781251	52781251	G	C	CYP24A1	c.733-149C>G	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52781251G>C	(Likely) benign	1 lab	7d094932aa
17:78162209 CARD14 A>C	17	78162209	78162209	A	C	CARD14	c.709A>C	NM_024110.4	NP_077015.2:p.(Asn237His)	NC_000017.10:g.78162209A>C	(Likely) benign	1 lab	7d09f2eeec
18:33780306 MOCOS AG>A	18	33780306	33780310	AG	A	MOCOS	c.941+23del	NM_017947.4	NP_060417.4:p.?	NC_000018.9:g.33780310del	(Likely) benign	1 lab	7d0c7e1bd2
9:129455410 LMX1B G>T	9	129455410	129455410	G	T	LMX1B	c.560-11G>T	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129455410G>T	(Likely) benign	1 lab	7d0ea3f088
15:63336264 TPM1 G>C	15	63336264	63336264	G	C	TPM1	c.153G>C	NM_001018005.2	NP_001018005.1:p.(Lys51Asn)	NC_000015.9:g.63336264G>C	VUS	1 lab	da0e8af160
11:64572247 MEN1 C>T	11	64572247	64572247	C	T	MEN1	c.1407G>A	NM_130803.2	NP_570715.1:p.(Ala469=)	NC_000011.9:g.64572247C>T	VUS	1 lab	7d1292a506
6:32016336 TNXB C>T	6	32016336	32016336	C	T	TNXB	c.9843G>A	NM_019105.8	NP_061978.6:p.(Thr3281=)	NC_000006.11:g.32016336C>T	(Likely) benign	1 lab	7d1468cd92
7:128488119 FLNC G>A	7	128488119	128488119	G	A	FLNC	c.4577G>A	NM_001458.4	NP_001449.3:p.(Arg1526His)	NC_000007.13:g.128488119G>A	(Likely) benign	1 lab	7d16d0735f
3:64184685 PRICKLE2 C>T	3	64184685	64184685	C	T	PRICKLE2	c.-40-42G>A	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64184685C>T	(Likely) benign	1 lab	7d197c7bf8
11:71903374 FOLR1 T>C	11	71903374	71903374	T	C	FOLR1	c.157T>C	NM_016724.3	NP_057936.1:p.(Leu53=)	NC_000011.9:g.71903374T>C	(Likely) benign	1 lab	7d207a0b4f
6:32943108 BRD2 T>A	6	32943108	32943108	T	A	BRD2	c.334-53T>A	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943108T>A	(Likely) benign	1 lab	7d21d93acc
9:98766861 ERCC6L2 G>A	9	98766861	98766861	G	A	ERCC6L2				NC_000009.11:g.98766861G>A	(Likely) benign	1 lab	7d24425477
12:103246707 PAH C>A	12	103246707	103246707	C	A	PAH	c.728G>T	NM_000277.3	NP_000268.1:p.(Arg243Leu)	NC_000012.11:g.103246707C>A	(Likely) pathogenic	1 lab	7d2728fbd5
17:42336981 SLC4A1 C>T	17	42336981	42336981	C	T	SLC4A1	c.610-32G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42336981C>T	(Likely) benign	1 lab	7d2dd84ee0
16:81888201 PLCG2 A>C	16	81888201	81888201	A	C	PLCG2	c.337+9A>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81888201A>C	(Likely) benign	1 lab	7d345bc2a7
4:123377280 IL2 CAT>C	4	123377280	123377283	CAT	C	IL2	c.207+17_207+18del	NM_000586.4	NP_000577.2:p.?	NC_000004.11:g.123377282_123377283del	(Likely) benign	1 lab	7d34d9b0fb
9:37436632 GRHPR CCTCTCT>C	9	37436632	37436649	CCTCTCT	C	GRHPR	c.866-14_866-9del	NM_012203.2	NP_036335.1:p.?	NC_000009.11:g.37436644_37436649del	(Likely) benign	1 lab	7d3be1f6a5
14:64678790 SYNE2 G>A	14	64678790	64678790	G	A	SYNE2	c.18835G>A	NM_182914.2	NP_878918.2:p.(Ala6279Thr)	NC_000014.8:g.64678790G>A	(Likely) benign	1 lab	7d3d00cf63
3:9969915 IL17RC C>T	3	9969915	9969915	C	T	IL17RC	c.1090+11C>T	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9969915C>T	(Likely) benign	1 lab	7d3d4eab23
3:49159191 LAMB2 C>T	3	49159191	49159191	C	T	LAMB2	c.5026G>A	NM_002292.4	NP_002283.3:p.(Gly1676Arg)	NC_000003.11:g.49159191C>T	(Likely) benign	1 lab	7d42cd3f7e
15:38810524 RASGRP1 A>T	15	38810524	38810524	A	T	RASGRP1	c.490T>A	NM_005739.4	NP_005730.2:p.(Leu164Ile)	NC_000015.9:g.38810524A>T	(Likely) benign	1 lab	7d472f9627
6:39847207 DAAM2 A>G	6	39847207	39847207	A	G	DAAM2	c.1799A>G	NM_001201427.2	NP_001188356.1:p.(Gln600Arg)	NC_000006.11:g.39847207A>G	(Likely) benign	1 lab	7d4824daeb
8:61654396 CHD7 G>A	8	61654396	61654396	G	A	CHD7				NC_000008.10:g.61654396G>A	(Likely) benign	1 lab	7d4b9551aa
5:176831003 F12 C>G	5	176831003	176831003	C	G	F12	c.1107G>C	NM_000505.3	NP_000496.2:p.(Ser369=)	NC_000005.9:g.176831003C>G	(Likely) benign	1 lab	7d4e1caae3
6:45296618 SUPT3H T>C	6	45296618	45296618	T	C	SUPT3H	c.-51-5914A>G	NM_181356.3	NP_852001.1:p.?	NC_000006.11:g.45296618T>C	VUS	1 lab	7d50ed384a
21:45713653 AIRE G>A	21	45713653	45713653	G	A	AIRE				NC_000021.8:g.45713653G>A	(Likely) benign	1 lab	7d5609061c
7:65444359 GUSB T>TGA	7	65444359	65444364	T	TGA	GUSB	c.724+25_724+26dup	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65444363_65444364dup	(Likely) benign	1 lab	d245c5f567
13:37524172 ALG5 C>G	13	37524172	37524172	C	G	ALG5	c.882G>C	NM_013338.5	NP_037470.1:p.(Trp294Cys)	NC_000013.10:g.37524172C>G	VUS	1 lab	7d5be6bd80
2:166164348 SCN2A G>A	2	166164348	166164348	G	A	SCN2A	c.387-10G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166164348G>A	(Likely) benign	1 lab	7d61dab12e
2:220309688 SPEG G>A	2	220309688	220309688	G	A	SPEG	c.620G>A	NM_005876.5	NP_005867.3:p.(Arg207His)	NC_000002.11:g.220309688G>A	(Likely) benign	1 lab	7d67c013a1
1:120265981 PHGDH C>A	1	120265981	120265981	C	A	PHGDH	c.291-18C>A	NM_006623.4	NP_006614.2:p.?	NC_000001.10:g.120265981C>A	(Likely) benign	1 lab	7d6b170bec
16:3304608 MEFV A>G	16	3304608	3304608	A	G	MEFV	c.460T>C	NM_000243.2	NP_000234.1:p.(Ser154Pro)	NC_000016.9:g.3304608A>G	VUS	1 lab	7d6c0bffa6
19:35530690 SCN1B C>G	19	35530690	35530690	C	G	SCN1B	c.*6-11C>G	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530690C>G	(Likely) benign	1 lab	7d77426e5c
19:39055855 RYR1 C>T	19	39055855	39055855	C	T	RYR1	c.12881C>T	NM_000540.2	NP_000531.2:p.(Thr4294Met)	NC_000019.9:g.39055855C>T	(Likely) benign	1 lab	7d77722bb3
1:204159611 KISS1 CT>C	1	204159611	204159612	CT	C	KISS1	c.417del	NM_002256.4	NP_002247.3:p.(Ter139TrpextTer7)	NC_000001.10:g.204159612del	(Likely) benign	1 lab	7d7902e841
21:44839374 SIK1 G>A	21	44839374	44839374	G	A	SIK1	c.1120-16C>T	NM_173354.5	NP_775490.2:p.?	NC_000021.8:g.44839374G>A	(Likely) benign	1 lab	7d7a04dcdf
19:54650371 CNOT3 C>A	19	54650371	54650371	C	A	CNOT3	c.872C>A	NM_014516.4	NP_055331.1:p.(Ser291Tyr)	NC_000019.9:g.54650371C>A	VUS	1 lab	7d7a3b0b8c
1:29356814 EPB41 A>G	1	29356814	29356814	A	G	EPB41	c.498-98A>G	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29356814A>G	(Likely) benign	1 lab	7d84f053a9
15:73028159 BBS4 G>A	15	73028159	73028159	G	A	BBS4	c.1107-7G>A	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.73028159G>A	(Likely) benign	1 lab	7d8b69ad82
20:45318031 TP53RK G>A	20	45318031	45318031	G	A	TP53RK	c.23C>T	NM_033550.4	NP_291028.3:p.(Thr8Met)	NC_000020.10:g.45318031G>A	(Likely) benign	1 lab	7d8d9ff82c
11:66475296 SPTBN2 C>A	11	66475296	66475296	C	A	SPTBN2	c.1351-7G>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66475296C>A	(Likely) benign	1 lab	7d90a75972
2:220147591 DNAJB2 C>T	2	220147591	220147591	C	T	DNAJB2	c.385C>T	NM_006736.6	NP_006727.2:p.(Arg129Trp)	NC_000002.11:g.220147591C>T	(Likely) benign	1 lab	7d926430ec
9:139409996 NOTCH1 G>A	9	139409996	139409996	G	A	NOTCH1	c.1842C>T	NM_017617.5	NP_060087.3:p.(His614=)	NC_000009.11:g.139409996G>A	(Likely) benign	1 lab	7d93bf7edb
12:111057896 TCTN1 C>T	12	111057896	111057896	C	T	TCTN1	c.341+135C>T	NM_001082538.3	NP_001076007.1:p.?	NC_000012.11:g.111057896C>T	(Likely) benign	1 lab	7d94eef1de
15:77317665 PSTPIP1 T>TC	15	77317665	77317669	T	TC	PSTPIP1	c.247+10dup	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77317669dup	(Likely) benign	1 lab	7d97dc0b61
7:27282866 EVX1 C>T	7	27282866	27282866	C	T	EVX1	c.217C>T	NM_001989.5	NP_001980.1:p.(Leu73Phe)	NC_000007.13:g.27282866C>T	(Likely) benign	1 lab	7d97f77a9b
16:3707191 DNASE1 G>A	16	3707191	3707191	G	A	DNASE1	c.553G>A	NM_005223.3	NP_005214.2:p.(Val185Ile)	NC_000016.9:g.3707191G>A	(Likely) benign	1 lab	7da5121d76
1:33502357 AK2 C>T	1	33502357	33502357	C	T	AK2				NC_000001.10:g.33502357C>T	(Likely) benign	1 lab	7da58f060a
15:91260687 BLM G>C	15	91260687	91260687	G	C	BLM	c.-1296+16G>C	NM_001287248.2	NP_001274177.1:p.?	NC_000015.9:g.91260687G>C	(Likely) benign	1 lab	7da5b7648b
3:186445048 KNG1 G>A	3	186445048	186445048	G	A	KNG1	c.587G>A	NM_001102416.3	NP_001095886.1:p.(Arg196Gln)	NC_000003.11:g.186445048G>A	(Likely) benign	1 lab	7db0b6c98b
16:2162471 PKD1 C>T	16	2162471	2162471	C	T	PKD1	c.3165G>A	NM_001009944.2	NP_001009944.2:p.(Trp1055Ter)	NC_000016.9:g.2162471C>T	(Likely) pathogenic	1 lab	7db4ac3976
15:48738893 FBN1 G>T	15	48738893	48738893	G	T	FBN1	c.5788+10C>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48738893G>T	(Likely) benign	1 lab	7db60900d5
X:31496263 DMD A>T	X	31496263	31496263	A	T	DMD	c.8897T>A	NM_004006.3	NP_003997.2:p.(Leu2966His)	NC_000023.10:g.31496263A>T	VUS	1 lab	d24727cbe9
5:89979468 ADGRV1 T>C	5	89979468	89979468	T	C	ADGRV1	c.5730T>C	NM_032119.4	NP_115495.3:p.(Asp1910=)	NC_000005.9:g.89979468T>C	(Likely) benign	1 lab	7dc8c127a1
12:54932776 NCKAP1L T>C	12	54932776	54932776	T	C	NCKAP1L	c.3273+19T>C	NM_005337.5	NP_005328.2:p.?	NC_000012.11:g.54932776T>C	(Likely) benign	1 lab	7dcc05370d
15:23890073 MAGEL2 G>A	15	23890073	23890073	G	A	MAGEL2	c.2817C>T	NM_019066.5	NP_061939.3:p.(Thr939=)	NC_000015.9:g.23890073G>A	(Likely) benign	1 lab	7dd240dac6
17:42337976 SLC4A1 G>A	17	42337976	42337976	G	A	SLC4A1	c.349+27C>T	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42337976G>A	(Likely) benign	1 lab	7e040813ca
X:21995367 SMS T>C	X	21995367	21995367	T	C	SMS	c.505+13T>C	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21995367T>C	(Likely) benign	1 lab	7dd5f87a8d
10:60553351 BICC1 A>G	10	60553351	60553351	A	G	BICC1	c.1155A>G	NM_001080512.3	NP_001073981.1:p.(Lys385=)	NC_000010.10:g.60553351A>G	(Likely) benign	1 lab	7dd6a64460
6:7581094 DSP G>A	6	7581094	7581094	G	A	DSP	c.4671G>A	NM_004415.2	NP_004406.2:p.(Thr1557=)	NC_000006.11:g.7581094G>A	(Likely) benign	1 lab	7dd77c143a
7:128482873 FLNC C>T	7	128482873	128482873	C	T	FLNC	c.2415C>T	NM_001458.4	NP_001449.3:p.(Cys805=)	NC_000007.13:g.128482873C>T	(Likely) benign	1 lab	7dd8e71ba8
12:15742588 PTPRO A>G	12	15742588	15742588	A	G	PTPRO	c.3546+64A>G	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15742588A>G	(Likely) benign	1 lab	7ddbd9d21c
6:149699934 TAB2 CCA>C	6	149699934	149699937	CCA	C	TAB2	c.885_886del	NM_015093.6	NP_055908.1:p.(Pro296AsnfsTer7)	NC_000006.11:g.149699936_149699937del	(Likely) pathogenic	1 lab	d2480663aa
4:84206019 COQ2 C>CG	4	84206019	84206021	C	CG	COQ2	c.48dup	NM_015697.8	NP_056512.5:p.(Ala17ArgfsTer76)	NC_000004.11:g.84206021dup	(Likely) pathogenic	1 lab	7de0ea93f7
2:215617263 BARD1 G>A	2	215617263	215617263	G	A	BARD1	c.1585C>T	NM_000465.4	NP_000456.2:p.(Arg529Trp)	NC_000002.11:g.215617263G>A	VUS	1 lab	d24a4d1773
6:53135426 ELOVL5 A>C	6	53135426	53135426	A	C	ELOVL5	c.721T>G	NM_021814.5	NP_068586.1:p.(Ser241Ala)	NC_000006.11:g.53135426A>C	VUS	1 lab	da0e9a1f58
15:43508762 EPB42 C>T	15	43508762	43508762	C	T	EPB42	c.101-111G>A	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43508762C>T	(Likely) benign	1 lab	7deb9e3bbd
4:86643057 ARHGAP24 G>A	4	86643057	86643057	G	A	ARHGAP24	c.200G>A	NM_001025616.3	NP_001020787.2:p.(Gly67Glu)	NC_000004.11:g.86643057G>A	(Likely) benign	1 lab	7e06305f12
16:67682233 CARMIL2 C>T	16	67682233	67682233	C	T	CARMIL2	c.1334+16C>T	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67682233C>T	(Likely) benign	1 lab	7dec3af3d7
3:135871121 MSL2 G>T	3	135871121	135871121	G	T	MSL2	c.602C>A	NM_018133.4	NP_060603.2:p.(Ser201Ter)	NC_000003.11:g.135871121G>T	(Likely) pathogenic	1 lab	7dee8388d2
22:32188111 DEPDC5 C>T	22	32188111	32188111	C	T	DEPDC5	c.694+23C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188111C>T	(Likely) benign	1 lab	7df0cea880
X:69622435 KIF4A C>G	X	69622435	69622435	C	G	KIF4A	c.2509C>G	NM_012310.4	NP_036442.3:p.(Leu837Val)	NC_000023.10:g.69622435C>G	(Likely) benign	1 lab	7df481e5ca
2:167060984 SCN9A C>G	2	167060984	167060984	C	G	SCN9A	c.4366-10G>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060984C>G	(Likely) benign	1 lab	7df885c543
5:90006953 ADGRV1 G>A	5	90006953	90006953	G	A	ADGRV1	c.8904-48G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90006953G>A	(Likely) benign	1 lab	7dfc001fd3
5:90073950 ADGRV1 T>TTG	5	90073950	90073962	T	TTG	ADGRV1	c.12666+101_12666+102dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90073961_90073962dup	(Likely) benign	1 lab	7dfe084a6b
15:43512864 EPB42 A>C	15	43512864	43512864	A	C	EPB42	c.100+60T>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43512864A>C	(Likely) benign	1 lab	7dff5b2cb3
22:26346311 MYO18B AT>A	22	26346311	26346322	AT	A	MYO18B	c.5749-11del	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26346322del	(Likely) benign	1 lab	7dffdf0ae1
2:166848437 SCN1A G>A	2	166848437	166848437	G	A	SCN1A	c.5348C>T	NM_001165963.3	NP_001159435.1:p.(Ala1783Val)	NC_000002.11:g.166848437G>A	(Likely) pathogenic	1 lab	7e009d49a7
X:153707164 LAGE3 C>T	X	153707164	153707164	C	T	LAGE3	c.91G>A	NM_006014.4	NP_006005.2:p.(Ala31Thr)	NC_000023.10:g.153707164C>T	(Likely) benign	1 lab	7e06b6ba32
X:153578382 FLNA C>A	X	153578382	153578382	C	A	FLNA	c.7309+17G>T	NM_001456.3	NP_001447.2:p.?	NC_000023.10:g.153578382C>A	(Likely) benign	1 lab	7e0b03c97d
X:84329070 APOOL A>G	X	84329070	84329070	A	G	APOOL	c.553A>G	NM_198450.6	NP_940852.3:p.(Lys185Glu)	NC_000023.10:g.84329070A>G	(Likely) benign	1 lab	7e0b413df1
X:101093364 NXF5 C>T	X	101093364	101093364	C	T	NXF5	c.754G>A	NM_032946.2	NP_116564.2:p.(Ala252Thr)	NC_000023.10:g.101093364C>T	(Likely) benign	1 lab	7e0b4e1c14
16:3304615 MEFV C>G	16	3304615	3304615	C	G	MEFV	c.453G>C	NM_000243.2	NP_000234.1:p.(Arg151Ser)	NC_000016.9:g.3304615C>G	VUS	1 lab	7e0becff6f
1:245018794 HNRNPU G>A	1	245018794	245018794	G	A	HNRNPU	c.2284C>T	NM_031844.3	NP_114032.2:p.(Arg762Cys)	NC_000001.10:g.245018794G>A	VUS	1 lab	d24cce93d0
5:37244795 CPLANE1 A>T	5	37244795	37244795	A	T	CPLANE1	c.338-86T>A	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37244795A>T	(Likely) benign	1 lab	7e11965660
2:44550435 PREPL T>C	2	44550435	44550435	T	C	PREPL	c.1862A>G	NM_006036.4	NP_006027.2:p.(Lys621Arg)	NC_000002.11:g.44550435T>C	(Likely) benign	1 lab	7e1367e65f
4:79420942 FRAS1 G>A	4	79420942	79420942	G	A	FRAS1	c.9183G>A	NM_025074.7	NP_079350.5:p.(Ala3061=)	NC_000004.11:g.79420942G>A	(Likely) benign	1 lab	7e15eb4a6d
7:81634824 CACNA2D1 A>G	7	81634824	81634824	A	G	CACNA2D1	c.1516-11T>C	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81634824A>G	(Likely) benign	1 lab	7e17fc90ff
9:712737 KANK1 G>A	9	712737	712737	G	A	KANK1	c.1971G>A	NM_015158.4	NP_055973.2:p.(Gln657=)	NC_000009.11:g.712737G>A	(Likely) benign	1 lab	7e1ba2c27b
9:14784251 FREM1 T>C	9	14784251	14784251	T	C	FREM1	c.4442+117A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14784251T>C	(Likely) benign	1 lab	7e9268464f
X:53432473 SMC1A G>A	X	53432473	53432473	G	A	SMC1A	c.1797C>T	NM_001281463.1	NP_001268392.1:p.(Asn599=)	NC_000023.10:g.53432473G>A	(Likely) benign	1 lab	7e1cc33180
4:170354873 NEK1 T>C	4	170354873	170354873	T	C	NEK1	c.2681-57A>G	NM_012224.3	NP_036356.1:p.?	NC_000004.11:g.170354873T>C	(Likely) benign	1 lab	7e1d7e8d0a
2:110886688 NPHP1 A>AC	2	110886688	110886689	A	AC	NPHP1	c.1884+74dup	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110886689dup	(Likely) benign	1 lab	7e24c9622e
17:39780601 KRT17 C>A	17	39780601	39780601	C	A	KRT17	c.161G>T	NM_000422.3	NP_000413.1:p.(Gly54Val)	NC_000017.10:g.39780601C>A	VUS	1 lab	d24e99af63
4:103555981 MANBA C>T	4	103555981	103555981	C	T	MANBA	c.2379G>A	NM_005908.4	NP_005899.3:p.(Pro793=)	NC_000004.11:g.103555981C>T	(Likely) benign	1 lab	7e28336d91
1:205138406 DSTYK T>C	1	205138406	205138406	T	C	DSTYK	c.1209A>G	NM_015375.3	NP_056190.1:p.(Glu403=)	NC_000001.10:g.205138406T>C	(Likely) benign	1 lab	7e2884c777
8:145003345 PLEC C>T	8	145003345	145003345	C	T	PLEC	c.3597G>A	NM_201380.4	NP_958782.1:p.(Thr1199=)	NC_000008.10:g.145003345C>T	(Likely) benign	1 lab	7e293163c7
1:235597400 TBCE G>A	1	235597400	235597400	G	A	TBCE	c.661-119G>A	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235597400G>A	(Likely) benign	1 lab	7e2c548e3e
11:47371447 MYBPC3 C>T	11	47371447	47371447	C	T	MYBPC3	c.532G>A	NM_000256.3	NP_000247.2:p.(Val178Met)	NC_000011.9:g.47371447C>T	VUS	1 lab	7e2e3aa812
7:77756580 MAGI2 T>C	7	77756580	77756580	T	C	MAGI2	c.3357A>G	NM_012301.4	NP_036433.2:p.(Leu1119=)	NC_000007.13:g.77756580T>C	(Likely) benign	1 lab	7e33c99b37
X:135077248 SLC9A6 G>A	X	135077248	135077248	G	A	SLC9A6	c.525+104G>A	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135077248G>A	(Likely) benign	1 lab	7e348ebf25
11:118221350 CD3G G>T	11	118221350	118221350	G	T	CD3G	c.391G>T	NM_000073.2	NP_000064.1:p.(Val131Phe)	NC_000011.9:g.118221350G>T	(Likely) benign	1 lab	7e3a76cf10
5:95761525 PCSK1 A>T	5	95761525	95761525	A	T	PCSK1	c.395T>A	NM_000439.5	NP_000430.3:p.(Leu132Ter)	NC_000005.9:g.95761525A>T	(Likely) pathogenic	1 lab	7e3b12192d
13:32907595 BRCA2 T>C	13	32907595	32907595	T	C	BRCA2	c.1909+71T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32907595T>C	(Likely) benign	1 lab	7e3dac5e30
17:7463347 TNFSF13 GAC>G	17	7463347	7463353	GAC	G	TNFSF13	c.386-14_386-13del	NM_003808.4	NP_003799.1:p.?	NC_000017.10:g.7463352_7463353del	(Likely) benign	1 lab	7e3ef9dd6c
11:63987916 FERMT3 G>A	11	63987916	63987916	G	A	FERMT3	c.1320G>A	NM_031471.6	NP_113659.3:p.(Gln440=)	NC_000011.9:g.63987916G>A	(Likely) benign	1 lab	7e46fada8a
9:79820202 VPS13A C>CT	9	79820202	79820213	C	CT	VPS13A	c.188-16dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79820213dup	(Likely) benign	1 lab	d24f55d035
2:228029513 COL4A3 C>G	2	228029513	228029513	C	G	COL4A3	c.71C>G	NM_000091.4	NP_000082.2:p.(Ala24Gly)	NC_000002.11:g.228029513C>G	(Likely) benign	1 lab	7e4828ca06
9:16436244 BNC2 C>T	9	16436244	16436244	C	T	BNC2	c.1948G>A	NM_017637.5	NP_060107.3:p.(Ala650Thr)	NC_000009.11:g.16436244C>T	(Likely) benign	1 lab	7e4ebbf361
15:90173469 KIF7 C>A	15	90173469	90173469	C	A	KIF7	c.3318+49G>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90173469C>A	(Likely) benign	1 lab	7e4fc3928d
12:88523398 CEP290 T>C	12	88523398	88523398	T	C	CEP290	c.852+73A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88523398T>C	(Likely) benign	1 lab	7e513521cf
17:48152945 ITGA3 C>T	17	48152945	48152945	C	T	ITGA3	c.1538-18C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48152945C>T	(Likely) benign	1 lab	7e54843fd5
17:41231516 BRCA1 C>T	17	41231516	41231516	C	T	BRCA1	c.4358-2885G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41231516C>T	(Likely) benign	1 lab	7e574a0345
12:6439966 TNFRSF1A G>A	12	6439966	6439966	G	A	TNFRSF1A	c.625+53C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6439966G>A	(Likely) benign	1 lab	7e58ea0118
4:77134786 SCARB2 C>T	4	77134786	77134786	C	T	SCARB2	c.-90G>A	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77134786C>T	(Likely) benign	1 lab	7e5c69d494
X:154194836 F8 A>T	X	154194836	154194836	A	T	F8	c.1136T>A	NM_000132.3	NP_000123.1:p.(Phe379Tyr)	NC_000023.10:g.154194836A>T	VUS	1 lab	7e5e0cadb0
20:8745768 PLCB1 C>T	20	8745768	8745768	C	T	PLCB1	c.2711-18C>T	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8745768C>T	(Likely) benign	1 lab	7e61ccc4c5
X:18911698 PHKA2 G>T	X	18911698	18911698	G	T	PHKA2	c.3613C>A	NM_000292.3	NP_000283.1:p.(Pro1205Thr)	NC_000023.10:g.18911698G>T	(Likely) pathogenic	1 lab	7e6301deb3
18:47365522 MYO5B G>A	18	47365522	47365522	G	A	MYO5B	c.4844C>T	NM_001080467.3	NP_001073936.1:p.(Pro1615Leu)	NC_000018.9:g.47365522G>A	(Likely) pathogenic	1 lab	7e72ea37d5
18:48584573 SMAD4 A>C	18	48584573	48584573	A	C	SMAD4	c.746A>C	NM_005359.5	NP_005350.1:p.(Gln249Pro)	NC_000018.9:g.48584573A>C	(Likely) benign	1 lab	7e77891411
3:10191592 VHL G>A	3	10191592	10191592	G	A	VHL	c.585G>A	NM_000551.3	NP_000542.1:p.(Gln195=)	NC_000003.11:g.10191592G>A	VUS	1 lab	864da5fa89
2:215674201 BARD1 G>C	2	215674201	215674201	G	C	BARD1	c.93C>G	NM_000465.4	NP_000456.2:p.(Arg31=)	NC_000002.11:g.215674201G>C	(Likely) benign	1 lab	7e779fa50f
9:14737616 FREM1 A>G	9	14737616	14737616	A	G	FREM1	c.6341-23T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14737616A>G	(Likely) benign	1 lab	7e78c81c29
3:119128628 ARHGAP31 A>G	3	119128628	119128628	A	G	ARHGAP31	c.1926+5A>G	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119128628A>G	(Likely) benign	1 lab	d250f76d82
1:9783244 PIK3CD C>T	1	9783244	9783244	C	T	PIK3CD	c.2488C>T	NM_005026.3	NP_005017.3:p.(Arg830Cys)	NC_000001.10:g.9783244C>T	(Likely) pathogenic	1 lab	7e7a7e9524
1:183536415 NCF2 TG>T	1	183536415	183536417	TG	T	NCF2	c.778del	NM_000433.4	NP_000424.2:p.(Gln260ArgfsTer11)	NC_000001.10:g.183536417del	(Likely) pathogenic	1 lab	7e7e80dbbd
22:37887218 CARD10 G>A	22	37887218	37887218	G	A	CARD10	c.3078C>T	NM_014550.4	NP_055365.2:p.(Cys1026=)	NC_000022.10:g.37887218G>A	(Likely) benign	1 lab	7e7fc9ef37
16:3293215 MEFV G>A	16	3293215	3293215	G	A	MEFV	c.2272C>T	NM_000243.2	NP_000234.1:p.(Pro758Ser)	NC_000016.9:g.3293215G>A	VUS	1 lab	7e822fba34
10:47658686 ANTXRL G>A	10	47658686	47658686	G	A	ANTXRL	c.188G>A	NM_001278688.2	NP_001265617.1:p.(Arg63His)	NC_000010.10:g.47658686G>A	(Likely) benign	1 lab	7e87475f6f
13:32900636 BRCA2 G>C	13	32900636	32900636	G	C	BRCA2	c.517G>C	NM_000059.3	NP_000050.2:p.(Gly173Arg)	NC_000013.10:g.32900636G>C	VUS	1 lab	7e8851179f
2:47249055 TTC7A G>A	2	47249055	47249055	G	A	TTC7A	c.1447G>A	NM_020458.4	NP_065191.2:p.(Gly483Arg)	NC_000002.11:g.47249055G>A	VUS	1 lab	d2519839cb
1:43904358 SZT2 G>C	1	43904358	43904358	G	C	SZT2	c.6338-12G>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43904358G>C	(Likely) benign	1 lab	7e8c2fda65
1:160326045 NCSTN C>A	1	160326045	160326045	C	A	NCSTN	c.1552-5C>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160326045C>A	(Likely) benign	1 lab	7e8cbc6d37
8:72129273 EYA1 A>C	8	72129273	72129273	A	C	EYA1	c.1141-15T>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72129273A>C	(Likely) benign	1 lab	7e8fb80960
2:46583278 EPAS1 C>T	2	46583278	46583278	C	T	EPAS1	c.218-12C>T	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583278C>T	(Likely) benign	1 lab	7e8fd5cdf4
X:25025329 ARX G>A	X	25025329	25025329	G	A	ARX	c.1347C>T	NM_139058.3	NP_620689.1:p.(Gly449=)	NC_000023.10:g.25025329G>A	(Likely) benign	1 lab	7e9069a852
1:113653178 LRIG2 G>T	1	113653178	113653178	G	T	LRIG2	c.1792G>T	NM_014813.2	NP_055628.1:p.(Val598Leu)	NC_000001.10:g.113653178G>T	(Likely) benign	1 lab	7e959a1877
2:160289408 BAZ2B A>G	2	160289408	160289408	A	G	BAZ2B	c.1754T>C	NM_001289975.1	NP_001276904.1:p.(Leu585Ser)	NC_000002.11:g.160289408A>G	VUS	1 lab	d254ee4e5f
9:123753459 C5 G>C	9	123753459	123753459	G	C	C5	c.2941+10C>G	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123753459G>C	(Likely) benign	1 lab	7e9dc6388f
16:3293669 MEFV G>A	16	3293669	3293669	G	A	MEFV	c.1818C>T	NM_000243.2	NP_000234.1:p.(Thr606=)	NC_000016.9:g.3293669G>A	(Likely) benign	1 lab	7ea01b4c1d
13:32900490 BRCA2 C>T	13	32900490	32900490	C	T	BRCA2	c.516+71C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900490C>T	(Likely) benign	1 lab	7ea0d115f8
16:2140603 PKD1 G>A	16	2140603	2140603	G	A	PKD1	c.12139-12C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2140603G>A	(Likely) benign	1 lab	7ea38b40fe
5:37167390 CPLANE1 GA>G	5	37167390	37167395	GA	G	CPLANE1	c.7234-76del	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37167395del	(Likely) benign	1 lab	7eaabe1b9d
4:79238582 FRAS1 G>GC	4	79238582	79238589	G	GC	FRAS1	c.1887dup	NM_025074.7	NP_079350.5:p.(Lys630GlnfsTer19)	NC_000004.11:g.79238589dup	(Likely) pathogenic	1 lab	7ead42964d
11:111779489 CRYAB T>C	11	111779489	111779489	T	C	CRYAB	c.527A>G	NM_001885.3	NP_001876.1:p.(Ter176TrpextTer19)	NC_000011.9:g.111779489T>C	(Likely) pathogenic	1 lab	7eb25535ea
5:115177207 ATG12 T>C	5	115177207	115177207	T	C	ATG12	c.43A>G	NM_004707.4	NP_004698.3:p.(Ile15Val)	NC_000005.9:g.115177207T>C	(Likely) benign	1 lab	7eb633b62b
11:117693376 FXYD2 G>T	11	117693376	117693376	G	T	FXYD2	c.64+18C>A	NM_001680.5	NP_001671.2:p.?	NC_000011.9:g.117693376G>T	(Likely) benign	1 lab	7eb6cb254e
19:13365857 CACNA1A C>A	19	13365857	13365857	C	A	CACNA1A	c.4767+52G>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13365857C>A	(Likely) benign	1 lab	7eb6f3d6f0
X:153649161 TAFAZZIN TCACCCTCCCAGGG>T	X	153649161	153649191	TCACCCTCCCAGGG	T	TAFAZZIN	c.778-63_778-51del	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153649179_153649191del	(Likely) benign	1 lab	7eb81aa443
X:53430529 SMC1A C>T	X	53430529	53430529	C	T	SMC1A	c.2323G>A	NM_001281463.1	NP_001268392.1:p.(Val775Met)	NC_000023.10:g.53430529C>T	VUS	1 lab	d25ad061cc
6:161143565 PLG C>T	6	161143565	161143565	C	T	PLG	c.1222C>T	NM_000301.3	NP_000292.1:p.(Arg408Trp)	NC_000006.11:g.161143565C>T	(Likely) benign	1 lab	7ec173735b
16:56921871 SLC12A3 T>G	16	56921871	56921871	T	G	SLC12A3	c.2213T>G	NM_000339.3	NP_000330.3:p.(Leu738Arg)	NC_000016.9:g.56921871T>G	(Likely) pathogenic	1 lab	7ec30c7a3e
10:96084842 PLCE1 G>C	10	96084842	96084842	G	C	PLCE1	c.*5G>C	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96084842G>C	(Likely) benign	1 lab	7ec6857912
11:77832135 ALG8 TC>T	11	77832135	77832137	TC	T	ALG8	c.453del	NM_024079.5	NP_076984.2:p.(Trp151Ter)	NC_000011.9:g.77832137del	(Likely) pathogenic	1 lab	7eca9b7ade
18:29175144 TTR A>T	18	29175144	29175144	A	T	TTR	c.262A>T	NM_000371.4	NP_000362.1:p.(Ile88Leu)	NC_000018.9:g.29175144A>T	(Likely) pathogenic	1 lab	d25b54b92a
10:112541225 RBM20 C>T	10	112541225	112541225	C	T	RBM20	c.858C>T	NM_001134363.1	NP_001127835.1:p.(Asn286=)	NC_000010.10:g.112541225C>T	(Likely) benign	1 lab	7ecd87fec3
12:52886490 KRT6A A>G	12	52886490	52886490	A	G	KRT6A	c.483T>C	NM_005554.4	NP_005545.1:p.(Ala161=)	NC_000012.11:g.52886490A>G	(Likely) benign	1 lab	d25e29e3ca
5:39108343 FYB1 A>G	5	39108343	39108343	A	G	FYB1	c.2457T>C	NM_001465.6	NP_001456.3:p.(Asp819=)	NC_000005.9:g.39108343A>G	(Likely) benign	1 lab	7ed0451667
17:10541495 MYH3 C>T	17	10541495	10541495	C	T	MYH3	c.3594G>A	NM_002470.4	NP_002461.2:p.(Ala1198=)	NC_000017.10:g.10541495C>T	(Likely) benign	1 lab	7ed05eaf8e
20:60913064 LAMA5 C>T	20	60913064	60913064	C	T	LAMA5	c.1891+8G>A	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60913064C>T	(Likely) benign	1 lab	7ed1f43b46
5:156675844 ITK T>C	5	156675844	156675844	T	C	ITK	c.1634-16T>C	NM_005546.3	NP_005537.3:p.?	NC_000005.9:g.156675844T>C	(Likely) benign	1 lab	7ed6d84bba
3:186301661 DNAJB11 A>G	3	186301661	186301661	A	G	DNAJB11	c.748A>G	NM_016306.5	NP_057390.1:p.(Ile250Val)	NC_000003.11:g.186301661A>G	(Likely) benign	1 lab	7ed8d06d74
9:139405171 NOTCH1 G>A	9	139405171	139405171	G	A	NOTCH1	c.2674C>T	NM_017617.5	NP_060087.3:p.(Arg892Cys)	NC_000009.11:g.139405171G>A	VUS	1 lab	7edab26e9e
22:32238939 DEPDC5 TA>T	22	32238939	32238941	TA	T	DEPDC5	c.2516-140del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32238941del	(Likely) benign	1 lab	7edb6fe36c
1:11300345 MTOR G>A	1	11300345	11300345	G	A	MTOR	c.1786+15C>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11300345G>A	(Likely) benign	1 lab	7edcfc16bf
1:57431589 C8B C>T	1	57431589	57431589	C	T	C8B	c.33G>A	NM_000066.2	NP_000057.1:p.(Ala11=)	NC_000001.10:g.57431589C>T	(Likely) benign	1 lab	7edefa4bfa
22:50900360 SBF1 G>A	22	50900360	50900360	G	A	SBF1	c.2569+16C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50900360G>A	(Likely) benign	1 lab	7ee10ba8cc
10:75874163 VCL CTGCGTGTG>C	10	75874163	75874173	CTGCGTGTG	C	VCL	c.3153+21_3153+28del	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75874166_75874173del	(Likely) benign	1 lab	7ee242c9da
18:47480773 MYO5B C>T	18	47480773	47480773	C	T	MYO5B	c.1578G>A	NM_001080467.3	NP_001073936.1:p.(Gln526=)	NC_000018.9:g.47480773C>T	VUS	1 lab	7eeb129ab3
10:71160771 HK1 G>A	10	71160771	71160771	G	A	HK1	c.2739G>A	NM_001322365.1	NP_001309294.1:p.(Thr913=)	NC_000010.10:g.71160771G>A	(Likely) benign	1 lab	7eee8419a7
12:14778744 GUCY2C C>G	12	14778744	14778744	C	G	GUCY2C	c.2355G>C	NM_004963.4	NP_004954.2:p.(Leu785=)	NC_000012.11:g.14778744C>G	(Likely) benign	1 lab	7efae6bb39
4:6590902 MAN2B2 G>T	4	6590902	6590902	G	T	MAN2B2	c.680+15G>T	NM_015274.3	NP_056089.1:p.?	NC_000004.11:g.6590902G>T	(Likely) benign	1 lab	7effcb9e56
1:196874258 CFHR4 G>A	1	196874258	196874258	G	A	CFHR4	c.277G>A	NM_001201550.3	NP_001188479.1:p.(Val93Ile)	NC_000001.10:g.196874258G>A	(Likely) benign	1 lab	7f02239826
17:7125608 ACADVL G>A	17	7125608	7125608	G	A	ACADVL	c.865G>A	NM_000018.4	NP_000009.1:p.(Gly289Arg)	NC_000017.10:g.7125608G>A	(Likely) pathogenic	1 lab	7f06aaed69
4:79345652 FRAS1 CATT>C	4	79345652	79345658	CATT	C	FRAS1	c.4711+82_4711+84del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79345656_79345658del	(Likely) benign	1 lab	7f085854f2
9:14841633 FREM1 A>G	9	14841633	14841633	A	G	FREM1	c.1739-46T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14841633A>G	(Likely) benign	1 lab	7f09369e96
6:112469524 LAMA4 G>A	6	112469524	112469524	G	A	LAMA4	c.2188C>T	NM_001105206.3	NP_001098676.2:p.(Arg730Cys)	NC_000006.11:g.112469524G>A	VUS	1 lab	7f0edfe4e2
18:2931225 LPIN2 T>C	18	2931225	2931225	T	C	LPIN2	c.1456+29A>G	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2931225T>C	(Likely) benign	1 lab	7f0f53eb6f
19:13321421 CACNA1A C>T	19	13321421	13321421	C	T	CACNA1A	c.6357+10G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13321421C>T	(Likely) benign	1 lab	7f100d6218
12:939212 WNK1 T>C	12	939212	939212	T	C	WNK1	c.1197T>C	NM_001184985.1	NP_001171914.1:p.(Tyr399=)	NC_000012.11:g.939212T>C	(Likely) benign	1 lab	7f1092152c
1:228494144 OBSCN T>G	1	228494144	228494144	T	G	OBSCN	c.14602T>G	NM_001271223.2	NP_001258152.2:p.(Cys4868Gly)	NC_000001.10:g.228494144T>G	VUS	1 lab	7f1402df59
9:124073123 GSN C>T	9	124073123	124073123	C	T	GSN	c.666C>T	NM_000177.5	NP_000168.1:p.(Asn222=)	NC_000009.11:g.124073123C>T	(Likely) benign	1 lab	7f158e43a2
10:75864945 VCL T>G	10	75864945	75864945	T	G	VCL	c.2268T>G	NM_014000.2	NP_054706.1:p.(Ile756Met)	NC_000010.10:g.75864945T>G	VUS	1 lab	7f2114717d
6:108233996 SEC63 T>C	6	108233996	108233996	T	C	SEC63	c.515-18A>G	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108233996T>C	(Likely) benign	1 lab	7f2f45a2f9
16:56857753 NUP93 G>A	16	56857753	56857753	G	A	NUP93	c.789G>A	NM_014669.5	NP_055484.3:p.(Glu263=)	NC_000016.9:g.56857753G>A	(Likely) benign	1 lab	7f2fb9a7bd
1:196682946 CFH C>T	1	196682946	196682946	C	T	CFH	c.1418C>T	NM_000186.3	NP_000177.2:p.(Ala473Val)	NC_000001.10:g.196682946C>T	(Likely) benign	1 lab	7f374d8f84
11:111783826 CRYAB G>C	11	111783826	111783826	G	C	CRYAB	c.-199+3C>G	NM_001885.3	NP_001876.1:p.?	NC_000011.9:g.111783826G>C	(Likely) benign	1 lab	7f3bbc7b7a
16:3297087 MEFV T>C	16	3297087	3297087	T	C	MEFV	c.1516A>G	NM_000243.2	NP_000234.1:p.(Ile506Val)	NC_000016.9:g.3297087T>C	(Likely) benign	1 lab	7f43c1d2a0
2:71825682 DYSF C>T	2	71825682	71825682	C	T	DYSF	c.3572-12C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71825682C>T	(Likely) benign	1 lab	7f4d1ce607
19:3660944 PIP5K1C G>A	19	3660944	3660944	G	A	PIP5K1C	c.468+20C>T	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3660944G>A	(Likely) benign	1 lab	d261762ea2
7:92085922 GATAD1 G>A	7	92085922	92085922	G	A	GATAD1	c.*46G>A	NM_021167.5	NP_066990.3:p.?	NC_000007.13:g.92085922G>A	(Likely) benign	1 lab	7f4fe17144
2:166226686 SCN2A A>G	2	166226686	166226686	A	G	SCN2A	c.3726A>G	NM_021007.3	NP_066287.2:p.(Leu1242=)	NC_000002.11:g.166226686A>G	VUS	1 lab	7f50fe626c
15:67473781 SMAD3 G>C	15	67473781	67473781	G	C	SMAD3	c.861G>C	NM_005902.3	NP_005893.1:p.(Arg287=)	NC_000015.9:g.67473781G>C	(Likely) benign	1 lab	7f52e62231
9:139262114 CARD9 C>T	9	139262114	139262114	C	T	CARD9	c.1244G>A	NM_052813.4	NP_434700.2:p.(Arg415Gln)	NC_000009.11:g.139262114C>T	(Likely) benign	1 lab	7f5325f575
15:63358045 TPM1 T>C	15	63358045	63358045	T	C	TPM1	c.*45-50T>C	NM_000366.6	NP_000357.3:p.?	NC_000015.9:g.63358045T>C	(Likely) benign	1 lab	7f573b48e7
8:48691107 PRKDC G>A	8	48691107	48691107	G	A	PRKDC	c.11766C>T	NM_006904.6	NP_008835.5:p.(Asp3922=)	NC_000008.10:g.48691107G>A	(Likely) benign	1 lab	7f596f4537
17:73839145 UNC13D C>T	17	73839145	73839145	C	T	UNC13D	c.271G>A	NM_199242.2	NP_954712.1:p.(Val91Met)	NC_000017.10:g.73839145C>T	(Likely) benign	1 lab	7f5b5efd29
17:72781693 SLC38A12 G>A	17	72781693	72781693	G	A	SLC38A12	c.118G>A	NM_017728.4	NP_060198.3:p.(Ala40Thr)	NC_000017.10:g.72781693G>A	(Likely) benign	1 lab	7f79c5f7e1
12:113357307 OAS1 G>A	12	113357307	113357307	G	A	OAS1	c.1054G>A	NM_001032409.3	NP_001027581.1:p.(Gly352Ser)	NC_000012.11:g.113357307G>A	(Likely) benign	1 lab	7f5d84e7a8
6:39866692 DAAM2 G>A	6	39866692	39866692	G	A	DAAM2	c.2658G>A	NM_001201427.2	NP_001188356.1:p.(Arg886=)	NC_000006.11:g.39866692G>A	(Likely) benign	1 lab	7f5e088de4
9:137642420 COL5A1 C>T	9	137642420	137642420	C	T	COL5A1	c.1527C>T	NM_000093.4	NP_000084.3:p.(Ala509=)	NC_000009.11:g.137642420C>T	(Likely) benign	1 lab	7f6168a11c
3:184071602 CLCN2 G>A	3	184071602	184071602	G	A	CLCN2	c.1722-19C>T	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184071602G>A	(Likely) benign	1 lab	7f63a69a1c
9:135779860 TSC1 A>C	9	135779860	135779860	A	C	TSC1	c.1998-19T>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135779860A>C	(Likely) benign	1 lab	7f663394e9
16:89597110 SPG7 G>A	16	89597110	89597110	G	A	SPG7	c.881G>A	NM_003119.4	NP_003110.1:p.(Arg294His)	NC_000016.9:g.89597110G>A	(Likely) benign	1 lab	7f6b334291
16:31196244 FUS C>CT	16	31196244	31196247	C	CT	FUS	c.524-13dup	NM_004960.3	NP_004951.1:p.?	NC_000016.9:g.31196247dup	(Likely) benign	1 lab	7f6b63ab8c
21:33040869 SOD1 G>C	21	33040869	33040869	G	C	SOD1	c.443G>C	NM_000454.4	NP_000445.1:p.(Gly148Ala)	NC_000021.8:g.33040869G>C	(Likely) pathogenic	1 lab	7f6cbf1d4f
10:27459716 MASTL G>A	10	27459716	27459716	G	A	MASTL	c.1828G>A	NM_001172303.3	NP_001165774.1:p.(Val610Ile)	NC_000010.10:g.27459716G>A	(Likely) benign	1 lab	7f6e3073a0
8:61713015 CHD7 T>C	8	61713015	61713015	T	C	CHD7				NC_000008.10:g.61713015T>C	(Likely) benign	1 lab	7f6eaaaf63
12:33003867 PKP2 AG>A	12	33003867	33003869	AG	A	PKP2	c.1210del	NM_001005242.3	NP_001005242.2:p.(Leu404Ter)	NC_000012.11:g.33003869del	(Likely) pathogenic	1 lab	7f72d72550
12:110019278 MVK G>C	12	110019278	110019278	G	C	MVK	c.450G>C	NM_000431.2	NP_000422.1:p.(Ser150=)	NC_000012.11:g.110019278G>C	(Likely) benign	1 lab	7f74d315e4
10:89720804 PTEN ACTTT>A	10	89720804	89720808	ACTTT	A	PTEN	c.956_959del	NM_000314.8	NP_000305.3:p.(Thr319LysfsTer24)	NC_000010.10:g.89720805_89720808del	(Likely) pathogenic	1 lab	7f7d6b2d40
17:10535181 MYH3 C>T	17	10535181	10535181	C	T	MYH3	c.5109G>A	NM_002470.4	NP_002461.2:p.(Ala1703=)	NC_000017.10:g.10535181C>T	(Likely) benign	1 lab	7f820e8be9
X:119681004 CUL4B G>T	X	119681004	119681004	G	T	CUL4B	c.817C>A	NM_003588.3	NP_003579.3:p.(His273Asn)	NC_000023.10:g.119681004G>T	(Likely) benign	1 lab	7f836f6790
5:89854646 ADGRV1 A>T	5	89854646	89854646	A	T	ADGRV1	c.-67A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89854646A>T	(Likely) benign	1 lab	7f887fbcc5
4:980932 SLC26A1 G>A	4	980932	980932	G	A	SLC26A1	c.576+3984C>T	NM_134425.3	NP_602297.1:p.?	NC_000004.11:g.980932G>A	(Likely) benign	1 lab	7f8c23554d
10:78768125 KCNMA1 G>A	10	78768125	78768125	G	A	KCNMA1	c.2104+3600C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78768125G>A	(Likely) benign	1 lab	7f8c355829
13:39357188 FREM2 A>G	13	39357188	39357188	A	G	FREM2	c.5642-19A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39357188A>G	(Likely) benign	1 lab	7f8cb85c7b
22:36682706 MYH9 C>T	22	36682706	36682706	C	T	MYH9	c.5061+58G>A	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36682706C>T	(Likely) benign	1 lab	7f8d1e7593
X:22244528 PHEX ATT>A	X	22244528	22244540	ATT	A	PHEX	c.1900-21_1900-20del	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22244539_22244540del	(Likely) benign	1 lab	7f8d290d1d
17:78084642 GAA A>AT	17	78084642	78084643	A	AT	GAA	c.1551+3_1551+4insT	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78084642_78084643insT	(Likely) pathogenic	1 lab	7f8fe8ba7a
16:1261921 CACNA1H G>T	16	1261921	1261921	G	T	CACNA1H	c.4567-25G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1261921G>T	(Likely) benign	1 lab	7f90df0f2a
10:27389395 ANKRD26 G>C	10	27389395	27389395	G	C	ANKRD26	c.-140C>G	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27389395G>C	(Likely) benign	1 lab	7f986b8722
2:74689916 MOGS A>C	2	74689916	74689916	A	C	MOGS	c.1000T>G	NM_006302.3	NP_006293.2:p.(Phe334Val)	NC_000002.11:g.74689916A>C	(Likely) benign	1 lab	7fb13d79a9
14:58949390 KIAA0586 G>A	14	58949390	58949390	G	A	KIAA0586	c.3263G>A	NM_001244189.2	NP_001231118.1:p.(Gly1088Asp)	NC_000014.8:g.58949390G>A	(Likely) benign	1 lab	7fa2794ad2
X:135314244 MAP7D3 G>A	X	135314244	135314244	G	A	MAP7D3	c.872C>T	NM_024597.4	NP_078873.2:p.(Pro291Leu)	NC_000023.10:g.135314244G>A	(Likely) benign	1 lab	7fa4a7c5f7
3:77572049 ROBO2 C>T	3	77572049	77572049	C	T	ROBO2	c.930C>T	NM_002942.5	NP_002933.1:p.(Val310=)	NC_000003.11:g.77572049C>T	(Likely) benign	1 lab	7fa4d6ae6c
13:39435558 FREM2 T>TTC	13	39435558	39435560	T	TTC	FREM2	c.7520-9_7520-8insCT	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435559_39435560insCT	(Likely) benign	1 lab	7fa4fc5da3
17:46023160 PNPO G>A	17	46023160	46023160	G	A	PNPO	c.418-67G>A	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46023160G>A	(Likely) benign	1 lab	7fa6f874e2
1:6269086 RNF207 G>GT	1	6269086	6269087	G	GT	RNF207	c.469+2dup	NM_207396.3	NP_997279.2:p.?	NC_000001.10:g.6269087dup	(Likely) benign	1 lab	7fa8d7b2ba
15:26861078 GABRB3 T>C	15	26861078	26861078	T	C	GABRB3	c.461+5383A>G	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26861078T>C	(Likely) benign	1 lab	7fa90c23f1
1:198685827 PTPRC T>C	1	198685827	198685827	T	C	PTPRC	c.1308T>C	NM_002838.5	NP_002829.3:p.(Asn436=)	NC_000001.10:g.198685827T>C	(Likely) benign	1 lab	7fa90d1952
16:2147214 PKD1 G>A	16	2147214	2147214	G	A	PKD1	c.10434C>T	NM_001009944.2	NP_001009944.2:p.(Ala3478=)	NC_000016.9:g.2147214G>A	(Likely) benign	1 lab	7facddb875
16:3306305 MEFV G>A	16	3306305	3306305	G	A	MEFV	c.277+6C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3306305G>A	(Likely) benign	1 lab	86ff226fa2
6:32032689 TNXB C>T	6	32032689	32032689	C	T	TNXB	c.6750G>A	NM_019105.8	NP_061978.6:p.(Ser2250=)	NC_000006.11:g.32032689C>T	(Likely) benign	1 lab	7fb1679713
6:32820976 TAP1 C>T	6	32820976	32820976	C	T	TAP1	c.618G>A	NM_000593.5	NP_000584.2:p.(Ala206=)	NC_000006.11:g.32820976C>T	(Likely) benign	1 lab	7fb3d393b2
9:126132661 CRB2 G>C	9	126132661	126132661	G	C	CRB2	c.1329G>C	NM_173689.7	NP_775960.4:p.(Val443=)	NC_000009.11:g.126132661G>C	(Likely) benign	1 lab	7fb51b5bff
1:247588125 NLRP3 C>T	1	247588125	247588125	C	T	NLRP3	c.1374C>T	NM_001243133.2	NP_001230062.1:p.(His458=)	NC_000001.10:g.247588125C>T	(Likely) benign	1 lab	7fb6d1c6e4
17:39739635 KRT14 TCTC>T	17	39739635	39739640	TCTC	T	KRT14	c.1123_1125del	NM_000526.5	NP_000517.3:p.(Glu375del)	NC_000017.10:g.39739638_39739640del	(Likely) pathogenic	1 lab	d2654de5d0
1:158592847 SPTA1 G>A	1	158592847	158592847	G	A	SPTA1	c.6046C>T	NM_003126.3	NP_003117.2:p.(Arg2016Cys)	NC_000001.10:g.158592847G>A	(Likely) benign	1 lab	7fb99e61f2
16:2159642 PKD1 G>A	16	2159642	2159642	G	A	PKD1	c.5526C>T	NM_001009944.2	NP_001009944.2:p.(Pro1842=)	NC_000016.9:g.2159642G>A	(Likely) benign	1 lab	7fbeb8b97a
5:94826699 SKIC3 C>T	5	94826699	94826699	C	T	SKIC3	c.3844G>A	NM_014639.3	NP_055454.1:p.(Ala1282Thr)	NC_000005.9:g.94826699C>T	(Likely) benign	1 lab	7fc230670a
2:152420385 NEB G>A	2	152420385	152420385	G	A	NEB	c.18531C>T	NM_001271208.1	NP_001258137.1:p.(Arg6177=)	NC_000002.11:g.152420385G>A	(Likely) benign	1 lab	7fc3a0b8c2
3:64673295 ADAMTS9 C>A	3	64673295	64673295	C	A	ADAMTS9	c.39G>T	NM_182920.2	NP_891550.1:p.(Leu13=)	NC_000003.11:g.64673295C>A	(Likely) benign	1 lab	7fc4825150
6:39869235 DAAM2 G>T	6	39869235	39869235	G	T	DAAM2	c.2969G>T	NM_001201427.2	NP_001188356.1:p.(Arg990Leu)	NC_000006.11:g.39869235G>T	(Likely) benign	1 lab	7fc4afb8de
4:126239839 FAT4 C>T	4	126239839	126239839	C	T	FAT4				NC_000004.11:g.126239839C>T	(Likely) benign	1 lab	7fc4f16a39
16:58608951 CNOT1 T>C	16	58608951	58608951	T	C	CNOT1	c.1787A>G	NM_001265612.2	NP_001252541.1:p.(Lys596Arg)	NC_000016.9:g.58608951T>C	VUS	1 lab	d2699c5e71
1:209964081 IRF6 C>G	1	209964081	209964081	C	G	IRF6	c.819G>C	NM_006147.4	NP_006138.1:p.(Gln273His)	NC_000001.10:g.209964081C>G	(Likely) pathogenic	1 lab	7fccee8979
17:61278267 TANC2 G>T	17	61278267	61278267	G	T	TANC2	c.496G>T	NM_025185.4	NP_079461.2:p.(Ala166Ser)	NC_000017.10:g.61278267G>T	(Likely) benign	1 lab	d26d486fba
2:32449832 NLRC4 C>A	2	32449832	32449832	C	A	NLRC4	c.2785G>T	NM_021209.4	NP_067032.3:p.(Ala929Ser)	NC_000002.11:g.32449832C>A	(Likely) benign	1 lab	7fd0944abb
16:20359538 UMOD G>A	16	20359538	20359538	G	A	UMOD	c.973+7C>T	NM_003361.3	NP_003352.2:p.?	NC_000016.9:g.20359538G>A	(Likely) benign	1 lab	7fd57e4106
8:41548312 ANK1 C>T	8	41548312	41548312	C	T	ANK1	c.3859-195G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41548312C>T	(Likely) benign	1 lab	7fd77a4d46
22:42321571 TNFRSF13C G>C	22	42321571	42321571	G	C	TNFRSF13C	c.368-13C>G	NM_052945.3	NP_443177.1:p.?	NC_000022.10:g.42321571G>C	(Likely) benign	1 lab	7fd82e2d2b
18:33800128 MOCOS G>A	18	33800128	33800128	G	A	MOCOS	c.1908G>A	NM_017947.4	NP_060417.4:p.(Leu636=)	NC_000018.9:g.33800128G>A	(Likely) benign	1 lab	7fdc27ded0
3:184096051 THPO C>T	3	184096051	184096051	C	T	THPO	c.87G>A	NM_001290003.1	NP_001276932.1:p.(Lys29=)	NC_000003.11:g.184096051C>T	(Likely) benign	1 lab	7fdee21a4f
1:247587856 NLRP3 C>A	1	247587856	247587856	C	A	NLRP3	c.1105C>A	NM_001243133.2	NP_001230062.1:p.(Leu369Met)	NC_000001.10:g.247587856C>A	VUS	1 lab	7fe410bfaf
3:123419720 MYLK G>A	3	123419720	123419720	G	A	MYLK	c.2595C>T	NM_053025.3	NP_444253.3:p.(Asp865=)	NC_000003.11:g.123419720G>A	(Likely) benign	1 lab	7feb26c09c
2:179469033 TTN C>A	2	179469033	179469033	C	A	TTN	c.54382-1G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179469033C>A	(Likely) pathogenic	1 lab	7feb29669d
9:139412758 NOTCH1 G>A	9	139412758	139412758	G	A	NOTCH1	c.1100-14C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139412758G>A	(Likely) benign	1 lab	7fec1f80a5
13:32950673 BRCA2 G>GA	13	32950673	32950679	G	GA	BRCA2	c.8633-128dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950679dup	(Likely) benign	1 lab	7feca1982a
2:179315735 PRKRA GC>G	2	179315735	179315736	GC	G	PRKRA	c.22del	NM_003690.5	NP_003681.1:p.(Ala8ProfsTer19)	NC_000002.11:g.179315736del	(Likely) benign	1 lab	d26e1a9e46
16:3293600 MEFV C>CA	16	3293600	3293601	C	CA	MEFV	c.1886dup	NM_000243.2	NP_000234.1:p.(Pro630AlafsTer2)	NC_000016.9:g.3293601dup	(Likely) pathogenic	1 lab	7ff45d01e7
14:65239316 SPTB G>A	14	65239316	65239316	G	A	SPTB	c.5535C>T	NM_001024858.3	NP_001020029.1:p.(Leu1845=)	NC_000014.8:g.65239316G>A	(Likely) benign	1 lab	7ff526fdc3
14:58896067 KIAA0586 C>A	14	58896067	58896067	C	A	KIAA0586	c.236-14C>A	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58896067C>A	(Likely) benign	1 lab	7ff5728f26
16:89620148 SPG7 A>G	16	89620148	89620148	A	G	SPG7	c.1937-54A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89620148A>G	(Likely) benign	1 lab	7ff8b73800
1:158597296 SPTA1 G>C	1	158597296	158597296	G	C	SPTA1	c.5664+119C>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158597296G>C	(Likely) benign	1 lab	7ff9921bf4
X:107395020 ATG4A CT>C	X	107395020	107395023	CT	C	ATG4A	c.961-9del	NM_052936.5	NP_443168.2:p.?	NC_000023.10:g.107395023del	(Likely) benign	1 lab	7ffa2d1853
1:205126532 DSTYK G>C	1	205126532	205126532	G	C	DSTYK	c.2239-18C>G	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205126532G>C	(Likely) benign	1 lab	7ffa796ad8
7:154002603 DPP6 C>T	7	154002603	154002603	C	T	DPP6	c.24C>T	NM_001936.5	NP_001927.3:p.(Ser8=)	NC_000007.13:g.154002603C>T	(Likely) benign	1 lab	7ffc79997f
3:121491402 IQCB1 A>G	3	121491402	121491402	A	G	IQCB1	c.1567+2T>C	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121491402A>G	(Likely) pathogenic	1 lab	7ffdc13ef8
2:166892626 SCN1A C>A	2	166892626	166892626	C	A	SCN1A	c.3361G>T	NM_001165963.3	NP_001159435.1:p.(Glu1121Ter)	NC_000002.11:g.166892626C>A	(Likely) pathogenic	1 lab	80011bcee4
14:102466178 DYNC1H1 A>G	14	102466178	102466178	A	G	DYNC1H1	c.3805-148A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102466178A>G	(Likely) benign	1 lab	80080db3e6
12:57490429 STAT6 G>C	12	57490429	57490429	G	C	STAT6	c.2470C>G	NM_001178078.2	NP_001171549.1:p.(Leu824Val)	NC_000012.11:g.57490429G>C	(Likely) benign	1 lab	80097ec7b2
12:110019245 MVK CG>C	12	110019245	110019249	CG	C	MVK	c.421del	NM_000431.4	NP_000422.1:p.(Ala141ArgfsTer18)	NC_000012.11:g.110019249del	(Likely) pathogenic	1 lab	8009b6029b
9:140127589 SLC34A3 TGGGCTGGGGCTGCAGTGGCAGCCCCAGCCC>T	9	140127589	140127623	TGGGCTGGGGCTGCAGTGGCAGCCCCAGCCC	T	SLC34A3	c.560+27_561-38del	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140127594_140127623del	(Likely) pathogenic	1 lab	80113421ec
4:79343286 FRAS1 G>C	4	79343286	79343286	G	C	FRAS1	c.4678+132G>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79343286G>C	(Likely) benign	1 lab	8014715f1d
13:108860919 LIG4 T>C	13	108860919	108860919	T	C	LIG4	c.2698A>G	NM_002312.3	NP_002303.2:p.(Lys900Glu)	NC_000013.10:g.108860919T>C	(Likely) benign	1 lab	8016b94b52
14:58955327 KIAA0586 T>G	14	58955327	58955327	T	G	KIAA0586	c.3687-12T>G	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58955327T>G	(Likely) benign	1 lab	8017932945
2:110904430 NPHP1 T>C	2	110904430	110904430	T	C	NPHP1	c.1438-18A>G	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110904430T>C	(Likely) benign	1 lab	801b8e12f3
1:5926581 NPHP4 TA>T	1	5926581	5926584	TA	T	NPHP4	c.3559-64del	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5926584del	(Likely) benign	1 lab	801bdebaf8
10:112540808 RBM20 C>T	10	112540808	112540808	C	T	RBM20	c.441C>T	NM_001134363.1	NP_001127835.1:p.(His147=)	NC_000010.10:g.112540808C>T	(Likely) benign	1 lab	801dc71ffc
2:189898840 COL5A2 C>G	2	189898840	189898840	C	G	COL5A2	c.4456G>C	NM_000393.5	NP_000384.2:p.(Asp1486His)	NC_000002.11:g.189898840C>G	VUS	1 lab	8021a9b499
5:90149238 ADGRV1 A>C	5	90149238	90149238	A	C	ADGRV1	c.17342A>C	NM_032119.4	NP_115495.3:p.(Gln5781Pro)	NC_000005.9:g.90149238A>C	(Likely) benign	1 lab	80233c569d
9:130224581 LRSAM1 C>T	9	130224581	130224581	C	T	LRSAM1	c.457C>T	NM_138361.5	NP_612370.3:p.(Arg153Cys)	NC_000009.11:g.130224581C>T	VUS	1 lab	80261f170e
19:52249870 FPR1 G>A	19	52249870	52249870	G	A	FPR1	c.378C>T	NM_002029.3	NP_002020.1:p.(Cys126=)	NC_000019.9:g.52249870G>A	(Likely) benign	1 lab	802655f701
5:176831366 F12 G>A	5	176831366	176831366	G	A	F12	c.849C>T	NM_000505.3	NP_000496.2:p.(Asp283=)	NC_000005.9:g.176831366G>A	(Likely) benign	1 lab	802711934a
1:43892987 SZT2 C>T	1	43892987	43892987	C	T	SZT2	c.3298C>T	NM_015284.4	NP_056099.3:p.(Pro1100Ser)	NC_000001.10:g.43892987C>T	(Likely) benign	1 lab	8027ca6626
11:118183431 CD3E G>A	11	118183431	118183431	G	A	CD3E	c.202G>A	NM_000733.3	NP_000724.1:p.(Gly68Ser)	NC_000011.9:g.118183431G>A	(Likely) benign	1 lab	802aa276e8
15:80464492 FAH C>T	15	80464492	80464492	C	T	FAH	c.608C>T	NM_000137.4	NP_000128.1:p.(Ala203Val)	NC_000015.9:g.80464492C>T	VUS	1 lab	802c11fdf5
16:56385400 GNAO1 C>T	16	56385400	56385400	C	T	GNAO1	c.828C>T	NM_020988.3	NP_066268.1:p.(Gly276=)	NC_000016.9:g.56385400C>T	(Likely) benign	1 lab	802cd4067f
17:41244532 BRCA1 GT>G	17	41244532	41244534	GT	G	BRCA1	c.3015del	NM_007294.4	NP_009225.1:p.(Glu1005AspfsTer19)	NC_000017.10:g.41244534del	(Likely) pathogenic	1 lab	d26e3abefc
8:41513071 ANK1 A>G	8	41513071	41513071	A	G	ANK1	c.*175T>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41513071A>G	(Likely) benign	1 lab	8038f59642
5:89910125 ADGRV1 TG>T	5	89910125	89910126	TG	T	ADGRV1	c.23-526del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910126del	(Likely) benign	1 lab	804394884c
15:93536314 CHD2 C>A	15	93536314	93536314	C	A	CHD2	c.3595+86C>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93536314C>A	(Likely) benign	1 lab	8046910f03
2:192012789 STAT4 T>C	2	192012789	192012789	T	C	STAT4	c.128+13A>G	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.192012789T>C	(Likely) benign	1 lab	8048588613
2:231077600 SP110 C>T	2	231077600	231077600	C	T	SP110	c.459G>A	NM_004509.4	NP_004500.4:p.(Ala153=)	NC_000002.11:g.231077600C>T	(Likely) benign	1 lab	804e6578de
1:237951330 RYR2 G>T	1	237951330	237951330	G	T	RYR2	c.13371G>T	NM_001035.3	NP_001026.2:p.(Lys4457Asn)	NC_000001.10:g.237951330G>T	VUS	1 lab	805858b552
7:87101932 ABCB4 C>A	7	87101932	87101932	C	A	ABCB4	c.135+5G>T	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87101932C>A	VUS	1 lab	80595569ee
10:16918949 CUBN T>G	10	16918949	16918949	T	G	CUBN	c.9053A>C	NM_001081.3	NP_001072.2:p.(Tyr3018Ser)	NC_000010.10:g.16918949T>G	(Likely) pathogenic	1 lab	8059df0796
10:60556101 BICC1 C>G	10	60556101	60556101	C	G	BICC1	c.1181C>G	NM_001080512.3	NP_001073981.1:p.(Ser394Cys)	NC_000010.10:g.60556101C>G	VUS	1 lab	805e67fda1
3:49163422 LAMB2 G>C	3	49163422	49163422	G	C	LAMB2	c.2322C>G	NM_002292.4	NP_002283.3:p.(Thr774=)	NC_000003.11:g.49163422G>C	(Likely) benign	1 lab	8064998a57
7:135289094 NUP205 A>G	7	135289094	135289094	A	G	NUP205	c.2709A>G	NM_015135.2	NP_055950.1:p.(Leu903=)	NC_000007.13:g.135289094A>G	(Likely) benign	1 lab	8068397b26
8:17918921 ASAH1 C>A	8	17918921	17918921	C	A	ASAH1	c.750G>T	NM_177924.5	NP_808592.2:p.(Gly250=)	NC_000008.10:g.17918921C>A	(Likely) benign	1 lab	806a5aa773
6:90660390 BACH2 C>T	6	90660390	90660390	C	T	BACH2	c.1435G>A	NM_021813.4	NP_068585.1:p.(Ala479Thr)	NC_000006.11:g.90660390C>T	(Likely) benign	1 lab	8076b89969
22:37539644 IL2RB C>T	22	37539644	37539644	C	T	IL2RB	c.120G>A	NM_000878.5	NP_000869.1:p.(Ser40=)	NC_000022.10:g.37539644C>T	(Likely) benign	1 lab	807d00b6e0
8:27320473 CHRNA2 C>T	8	27320473	27320473	C	T	CHRNA2	c.1464+23G>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27320473C>T	(Likely) benign	1 lab	807e86c2bb
10:115373935 NRAP C>A	10	115373935	115373935	C	A	NRAP	c.3300+7G>T	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115373935C>A	(Likely) benign	1 lab	8081a9d840
20:62038498 KCNQ2 G>A	20	62038498	62038498	G	A	KCNQ2	c.2118C>T	NM_172107.4	NP_742105.1:p.(Ala706=)	NC_000020.10:g.62038498G>A	(Likely) benign	1 lab	808c984f73
X:62898045 ARHGEF9 A>G	X	62898045	62898045	A	G	ARHGEF9	c.794+175T>C	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62898045A>G	(Likely) benign	1 lab	808cb3f927
7:128470605 FLNC C>G	7	128470605	128470605	C	G	FLNC	c.-87C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128470605C>G	(Likely) benign	1 lab	809123ce34
7:99359655 CYP3A4 G>A	7	99359655	99359655	G	A	CYP3A4	c.1253+9C>T	NM_017460.6	NP_059488.2:p.?	NC_000007.13:g.99359655G>A	(Likely) benign	1 lab	8092786aaf
22:32239363 DEPDC5 C>T	22	32239363	32239363	C	T	DEPDC5	c.2633+165C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32239363C>T	(Likely) benign	1 lab	80936ab8d3
2:168103863 XIRP2 G>A	2	168103863	168103863	G	A	XIRP2	c.5961G>A	NM_152381.6	NP_689594.4:p.(Ala1987=)	NC_000002.11:g.168103863G>A	(Likely) benign	1 lab	8095171df7
2:179456088 TTN C>T	2	179456088	179456088	C	T	TTN	c.60364G>A	NM_001267550.1	NP_001254479.1:p.(Asp20122Asn)	NC_000002.11:g.179456088C>T	(Likely) benign	1 lab	8095bbeb98
10:121436013 BAG3 A>G	10	121436013	121436013	A	G	BAG3	c.947A>G	NM_004281.3	NP_004272.2:p.(Gln316Arg)	NC_000010.10:g.121436013A>G	VUS	1 lab	80976fa932
20:48098528 KCNB1 C>G	20	48098528	48098528	C	G	KCNB1	c.490G>C	NM_004975.4	NP_004966.1:p.(Asp164His)	NC_000020.10:g.48098528C>G	(Likely) benign	1 lab	80995846a3
2:179632554 TTN C>T	2	179632554	179632554	C	T	TTN	c.9265G>A	NM_133432.3	NP_597676.3:p.(Val3089Met)	NC_000002.11:g.179632554C>T	(Likely) benign	1 lab	809aa687b2
2:73651814 ALMS1 G>C	2	73651814	73651814	G	C	ALMS1	c.1024G>C	NM_015120.4	NP_055935.4:p.(Asp342His)	NC_000002.11:g.73651814G>C	(Likely) benign	1 lab	809ec82896
9:137705896 COL5A1 C>T	9	137705896	137705896	C	T	COL5A1	c.3906+14C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137705896C>T	(Likely) benign	1 lab	80a0a91be1
16:66471593 BEAN1 G>A	16	66471593	66471593	G	A	BEAN1	c.14G>A	NM_001178020.3	NP_001171491.1:p.(Arg5His)	NC_000016.9:g.66471593G>A	(Likely) benign	1 lab	80a494b4b6
10:13213022 MCM10 T>C	10	13213022	13213022	T	C	MCM10	c.108T>C	NM_182751.3	NP_877428.1:p.(Asn36=)	NC_000010.10:g.13213022T>C	(Likely) benign	1 lab	80a50493e3
2:179417636 TTN C>T	2	179417636	179417636	C	T	TTN	c.89991G>A	NM_001267550.1	NP_001254479.1:p.(Leu29997=)	NC_000002.11:g.179417636C>T	(Likely) benign	1 lab	80a957f7b7
8:41548209 ANK1 C>T	8	41548209	41548209	C	T	ANK1	c.3859-92G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41548209C>T	(Likely) benign	1 lab	80afa8f896
5:1221428 SLC6A19 C>T	5	1221428	1221428	C	T	SLC6A19	c.1701C>T	NM_001003841.3	NP_001003841.1:p.(Tyr567=)	NC_000005.9:g.1221428C>T	(Likely) benign	1 lab	80b2b81324
2:70443518 TIA1 C>A	2	70443518	70443518	C	A	TIA1	c.679+18G>T	NM_022173.4	NP_071505.2:p.?	NC_000002.11:g.70443518C>A	(Likely) benign	1 lab	80b63102d1
2:215809847 ABCA12 C>CAAAA	2	215809847	215809852	C	CAAAA	ABCA12	c.7240-23_7240-20dup	NM_173076.3	NP_775099.2:p.?	NC_000002.11:g.215809849_215809852dup	(Likely) benign	1 lab	80b6e7558b
16:53725914 RPGRIP1L G>T	16	53725914	53725914	G	T	RPGRIP1L	c.529+64C>A	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53725914G>T	(Likely) benign	1 lab	83d706627f
5:157170966 LSM11 G>A	5	157170966	157170966	G	A	LSM11	c.208G>A	NM_173491.4	NP_775762.1:p.(Gly70Ser)	NC_000005.9:g.157170966G>A	(Likely) benign	1 lab	80b91a14aa
2:113765587 IL36A A>T	2	113765587	113765587	A	T	IL36A	c.443A>T	NM_014440.3	NP_055255.1:p.(Asn148Ile)	NC_000002.11:g.113765587A>T	(Likely) benign	1 lab	80bb90ea5a
2:42994581 HAAO C>A	2	42994581	42994581	C	A	HAAO	c.857G>T	NM_012205.3	NP_036337.2:p.(Gly286Val)	NC_000002.11:g.42994581C>A	(Likely) benign	1 lab	80bbde702e
6:135754503 AHI1 C>T	6	135754503	135754503	C	T	AHI1	c.2037-109G>A	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135754503C>T	(Likely) benign	1 lab	80bfcb45ea
6:145956604 EPM2A C>T	6	145956604	145956604	C	T	EPM2A	c.495G>A	NM_005670.4	NP_005661.1:p.(Trp165Ter)	NC_000006.11:g.145956604C>T	VUS	1 lab	80c12aa394
11:77825362 ALG8 G>A	11	77825362	77825362	G	A	ALG8	c.623C>T	NM_001007027.2	NP_001007028.1:p.(Ala208Val)	NC_000011.9:g.77825362G>A	(Likely) benign	1 lab	80c56283c5
7:19155769 TWIST1 AGG>A	7	19155769	19155781	AGG	A	TWIST1	c.*43-17_*43-16del	NM_000474.4	NP_000465.1:p.?	NC_000007.13:g.19155780_19155781del	(Likely) benign	1 lab	80cb987965
4:114279858 ANK2 T>A	4	114279858	114279858	T	A	ANK2	c.10084T>A	NM_001148.4	NP_001139.3:p.(Ser3362Thr)	NC_000004.11:g.114279858T>A	(Likely) benign	1 lab	80cbd4f258
5:89914908 ADGRV1 T>C	5	89914908	89914908	T	C	ADGRV1	c.363T>C	NM_032119.4	NP_115495.3:p.(Pro121=)	NC_000005.9:g.89914908T>C	(Likely) benign	1 lab	80ce11cfb9
7:73474525 ELN C>T	7	73474525	73474525	C	T	ELN	c.1708+11C>T	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73474525C>T	(Likely) benign	1 lab	80e1551f76
9:80923321 PSAT1 C>CT	9	80923321	80923326	C	CT	PSAT1	c.571-4dup	NM_058179.4	NP_478059.1:p.?	NC_000009.11:g.80923326dup	(Likely) benign	1 lab	80e320f5cf
11:71711614 IL18BP CAGT>C	11	71711614	71711617	CAGT	C	IL18BP	c.235+12_235+14del	NM_001039660.2	NP_001034749.1:p.?	NC_000011.9:g.71711615_71711617del	(Likely) benign	1 lab	80e330d49d
16:89261482 CDH15 C>A	16	89261482	89261482	C	A	CDH15	c.2364C>A	NM_004933.3	NP_004924.1:p.(Tyr788Ter)	NC_000016.9:g.89261482C>A	(Likely) benign	1 lab	80e7c654a0
16:3716054 TRAP1 G>GC	16	3716054	3716055	G	GC	TRAP1	c.1300dup	NM_016292.3	NP_057376.2:p.(Ala434GlyfsTer2)	NC_000016.9:g.3716055dup	(Likely) pathogenic	1 lab	80e9424b8e
20:62325859 RTEL1 C>T	20	62325859	62325859	C	T	RTEL1	c.3109+18C>T	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62325859C>T	(Likely) benign	1 lab	80efc6b8ff
X:32456493 DMD C>G	X	32456493	32456493	C	G	DMD	c.3567G>C	NM_004010.3	NP_004001.1:p.(Leu1189Phe)	NC_000023.10:g.32456493C>G	(Likely) benign	1 lab	80f0daeff8
4:187560921 FAT1 C>T	4	187560921	187560921	C	T	FAT1	c.3597G>A	NM_005245.4	NP_005236.2:p.(Thr1199=)	NC_000004.11:g.187560921C>T	(Likely) benign	1 lab	80f17cc963
3:184091390 THPO G>GAGGA	3	184091390	184091393	G	GAGGA	THPO	c.229-21_229-20insTCCT	NM_000460.4	NP_000451.1:p.?	NC_000003.11:g.184091392_184091393insGAAG	(Likely) benign	1 lab	80f1d9d7af
15:93563176 CHD2 A>AAT	15	93563176	93563178	A	AAT	CHD2	c.4907-65_4907-64dup	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563177_93563178dup	(Likely) benign	1 lab	80f2fb3262
X:53654434 HUWE1 C>T	X	53654434	53654434	C	T	HUWE1	c.1416G>A	NM_031407.7	NP_113584.3:p.(Pro472=)	NC_000023.10:g.53654434C>T	(Likely) benign	1 lab	80f3120c99
12:66826527 GRIP1 GAAGT>G	12	66826527	66826534	GAAGT	G	GRIP1	c.1688-123_1688-120del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66826531_66826534del	(Likely) benign	1 lab	80fb4047bc
20:61981785 CHRNA4 G>A	20	61981785	61981785	G	A	CHRNA4	c.978C>T	NM_000744.6	NP_000735.1:p.(Phe326=)	NC_000020.10:g.61981785G>A	(Likely) benign	1 lab	8105ac0078
1:154562900 ADAR A>G	1	154562900	154562900	A	G	ADAR	c.2271-15T>C	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154562900A>G	(Likely) benign	1 lab	8106739f97
16:88783310 PIEZO1 G>C	16	88783310	88783310	G	C	PIEZO1	c.6661-4C>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88783310G>C	(Likely) benign	1 lab	8106aaaf95
6:32946034 BRD2 T>C	6	32946034	32946034	T	C	BRD2	c.1710T>C	NM_001199455.1	NP_001186384.1:p.(Asp570=)	NC_000006.11:g.32946034T>C	(Likely) benign	1 lab	810de5edc8
X:110987969 ALG13 A>C	X	110987969	110987969	A	C	ALG13	c.2535A>C	NM_001257231.1	NP_001244160.1:p.(Pro845=)	NC_000023.10:g.110987969A>C	(Likely) benign	1 lab	8111feacde
2:166786210 TTC21B G>A	2	166786210	166786210	G	A	TTC21B	c.1135C>T	NM_024753.5	NP_079029.3:p.(Gln379Ter)	NC_000002.11:g.166786210G>A	(Likely) pathogenic	1 lab	8113a0f4b9
6:32939248 BRD2 C>G	6	32939248	32939248	C	G	BRD2	c.-1304-124C>G	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32939248C>G	(Likely) benign	1 lab	8117ca2258
8:75275312 GDAP1 C>T	8	75275312	75275312	C	T	GDAP1	c.694+24C>T	NM_018972.2	NP_061845.2:p.?	NC_000008.10:g.75275312C>T	(Likely) benign	1 lab	8119afb3c4
9:137653802 COL5A1 C>T	9	137653802	137653802	C	T	COL5A1	c.1967C>T	NM_000093.4	NP_000084.3:p.(Pro656Leu)	NC_000009.11:g.137653802C>T	(Likely) benign	1 lab	811ba22460
9:135946610 CEL C>T	9	135946610	135946610	C	T	CEL	c.1721C>T	NM_001807.6	NP_001798.3:p.(Thr574Met)	NC_000009.11:g.135946610C>T	(Likely) benign	1 lab	d270fd3833
1:200571214 KIF14 A>G	1	200571214	200571214	A	G	KIF14	c.1980-18T>C	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200571214A>G	(Likely) benign	1 lab	811e8ec34f
2:217315625 SMARCAL1 G>A	2	217315625	217315625	G	A	SMARCAL1	c.1908G>A	NM_014140.3	NP_054859.2:p.(Leu636=)	NC_000002.11:g.217315625G>A	(Likely) benign	1 lab	811fce177b
3:132427115 NPHP3 C>A	3	132427115	132427115	C	A	NPHP3	c.1119-14G>T	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132427115C>A	(Likely) benign	1 lab	811fd6309b
1:235590819 TBCE A>G	1	235590819	235590819	A	G	TBCE	c.560+265A>G	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235590819A>G	(Likely) benign	1 lab	8120b7f377
19:42383212 CD79A CCT>C	19	42383212	42383214	CCT	C	CD79A	c.233_234del	NM_001783.4	NP_001774.1:p.(Pro78ArgfsTer103)	NC_000019.9:g.42383213_42383214del	(Likely) pathogenic	1 lab	8121ed0b22
5:161528378 GABRG2 T>G	5	161528378	161528378	T	G	GABRG2				NC_000005.9:g.161528378T>G	(Likely) benign	1 lab	8122105b6b
10:99342400 ANKRD2 C>T	10	99342400	99342400	C	T	ANKRD2	c.1132C>T	NM_001291218.1	NP_001278147.1:p.(Arg378Cys)	NC_000010.10:g.99342400C>T	(Likely) benign	1 lab	81243d4ca0
16:3736155 TRAP1 G>T	16	3736155	3736155	G	T	TRAP1	c.331-18C>A	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3736155G>T	(Likely) benign	1 lab	812bd319cd
7:135262684 NUP205 A>G	7	135262684	135262684	A	G	NUP205	c.789A>G	NM_015135.2	NP_055950.1:p.(Ser263=)	NC_000007.13:g.135262684A>G	(Likely) benign	1 lab	813157ca66
17:42332808 SLC4A1 T>C	17	42332808	42332808	T	C	SLC4A1	c.1801-144A>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42332808T>C	(Likely) benign	1 lab	813543eba5
2:174228209 CDCA7 G>A	2	174228209	174228209	G	A	CDCA7	c.621+19G>A	NM_031942.5	NP_114148.3:p.?	NC_000002.11:g.174228209G>A	(Likely) benign	1 lab	813ad13407
1:196684855 CFH T>C	1	196684855	196684855	T	C	CFH	c.1652T>C	NM_000186.3	NP_000177.2:p.(Ile551Thr)	NC_000001.10:g.196684855T>C	(Likely) benign	1 lab	8144e27d13
13:23907043 SACS G>A	13	23907043	23907043	G	A	SACS	c.10972C>T	NM_014363.6	NP_055178.3:p.(Arg3658Trp)	NC_000013.10:g.23907043G>A	VUS	1 lab	d27355b46b
1:158644294 SPTA1 G>T	1	158644294	158644294	G	T	SPTA1	c.1248+36C>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158644294G>T	(Likely) benign	1 lab	815075a368
X:154065999 F8 G>A	X	154065999	154065999	G	A	F8	c.6929C>T	NM_000132.3	NP_000123.1:p.(Thr2310Ile)	NC_000023.10:g.154065999G>A	VUS	1 lab	8151037bef
17:42333310 SLC4A1 A>G	17	42333310	42333310	A	G	SLC4A1	c.1627-96T>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42333310A>G	(Likely) benign	1 lab	815711171d
7:92732008 SAMD9 T>C	7	92732008	92732008	T	C	SAMD9	c.3403A>G	NM_017654.4	NP_060124.2:p.(Ile1135Val)	NC_000007.13:g.92732008T>C	(Likely) benign	1 lab	815821e862
1:200573038 KIF14 G>A	1	200573038	200573038	G	A	KIF14	c.1792C>T	NM_014875.3	NP_055690.1:p.(Arg598Ter)	NC_000001.10:g.200573038G>A	(Likely) pathogenic	1 lab	8163a48b8c
19:6583330 CD70 T>C	19	6583330	6583330	T	C	CD70	c.608A>G	NM_001330332.2	NP_001317261.1:p.(Asn203Ser)	NC_000019.9:g.6583330T>C	(Likely) benign	1 lab	81659c8d8c
17:39919373 JUP C>A	17	39919373	39919373	C	A	JUP	c.1359G>T	NM_002230.2	NP_002221.1:p.(Glu453Asp)	NC_000017.10:g.39919373C>A	VUS	1 lab	816a65a7f0
4:122768628 BBS7 T>C	4	122768628	122768628	T	C	BBS7	c.968A>G	NM_176824.3	NP_789794.1:p.(His323Arg)	NC_000004.11:g.122768628T>C	(Likely) pathogenic	1 lab	816faf11a4
17:18151172 FLII G>C	17	18151172	18151172	G	C	FLII	c.2263-10C>G	NM_001256264.2	NP_001243193.1:p.?	NC_000017.10:g.18151172G>C	(Likely) benign	1 lab	8174a82401
6:49580033 RHAG CT>C	6	49580033	49580040	CT	C	RHAG	c.945+76del	NM_000324.3	NP_000315.2:p.?	NC_000006.11:g.49580040del	(Likely) benign	1 lab	81756ea99d
10:26998490 PDSS1 CA>C	10	26998490	26998501	CA	C	PDSS1	c.337-66del	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.26998501del	(Likely) benign	1 lab	817c5ac70c
16:3304366 MEFV G>A	16	3304366	3304366	G	A	MEFV	c.702C>T	NM_000243.2	NP_000234.1:p.(Pro234=)	NC_000016.9:g.3304366G>A	(Likely) benign	1 lab	817f7cc05b
14:105814830 PACS2 G>A	14	105814830	105814830	G	A	PACS2	c.120G>A	NM_001100913.3	NP_001094383.2:p.(Arg40=)	NC_000014.8:g.105814830G>A	VUS	1 lab	d273f546e9
5:90074966 ADGRV1 G>A	5	90074966	90074966	G	A	ADGRV1	c.13082+52G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90074966G>A	(Likely) benign	1 lab	8180a2af6d
1:6279365 RNF207 G>A	1	6279365	6279365	G	A	RNF207	c.1803G>A	NM_207396.3	NP_997279.2:p.(Pro601=)	NC_000001.10:g.6279365G>A	(Likely) benign	1 lab	818656a76d
14:24724343 TGM1 C>T	14	24724343	24724343	C	T	TGM1	c.1762G>A	NM_000359.3	NP_000350.1:p.(Ala588Thr)	NC_000014.8:g.24724343C>T	VUS	1 lab	d275e36b0c
X:107840754 COL4A5 G>A	X	107840754	107840754	G	A	COL4A5	c.1735G>A	NM_000495.5	NP_000486.1:p.(Gly579Arg)	NC_000023.10:g.107840754G>A	(Likely) pathogenic	1 lab	818a7d5208
1:22155310 HSPG2 C>T	1	22155310	22155310	C	T	HSPG2	c.12237+18G>A	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22155310C>T	(Likely) benign	1 lab	818cff48b3
1:6528535 PLEKHG5 G>A	1	6528535	6528535	G	A	PLEKHG5	c.2592C>T	NM_198681.3	NP_941374.2:p.(Thr864=)	NC_000001.10:g.6528535G>A	(Likely) benign	1 lab	818dc91576
X:110491212 CAPN6 G>A	X	110491212	110491212	G	A	CAPN6	c.1493C>T	NM_014289.4	NP_055104.2:p.(Thr498Ile)	NC_000023.10:g.110491212G>A	(Likely) benign	1 lab	819d1e77f8
X:152663377 PNMA6E G>C	X	152663377	152663377	G	C	PNMA6E	c.931C>G	NM_001367770.1	NP_001354699.1:p.(Pro311Ala)	NC_000023.10:g.152663377G>C	(Likely) benign	1 lab	819e5ffcac
2:44531279 SLC3A1 T>C	2	44531279	44531279	T	C	SLC3A1	c.1137-3T>C	NM_000341.4	NP_000332.2:p.?	NC_000002.11:g.44531279T>C	(Likely) benign	1 lab	81a1226a36
6:7585347 DSP C>T	6	7585347	7585347	C	T	DSP	c.7852C>T	NM_004415.2	NP_004406.2:p.(Pro2618Ser)	NC_000006.11:g.7585347C>T	VUS	1 lab	81a26aa164
16:11004112 CIITA T>C	16	11004112	11004112	T	C	CIITA	c.2884T>C	NM_000246.3	NP_000237.2:p.(Phe962Leu)	NC_000016.9:g.11004112T>C	(Likely) benign	1 lab	81a378c427
X:107865075 COL4A5 C>A	X	107865075	107865075	C	A	COL4A5	c.2720C>A	NM_000495.5	NP_000486.1:p.(Pro907Gln)	NC_000023.10:g.107865075C>A	(Likely) benign	1 lab	81a5e5c7e7
10:89273012 MINPP1 T>A	10	89273012	89273012	T	A	MINPP1	c.933+34T>A	NM_004897.5	NP_004888.2:p.?	NC_000010.10:g.89273012T>A	(Likely) benign	1 lab	81a7df1d96
2:228122239 COL4A3 T>C	2	228122239	228122239	T	C	COL4A3	c.988-80T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228122239T>C	(Likely) benign	1 lab	81b1dc1f0b
8:30703647 TEX15 G>A	8	30703647	30703647	G	A	TEX15	c.4036C>T	NM_001350162.2	NP_001337091.1:p.(Arg1346Ter)	NC_000008.10:g.30703647G>A	(Likely) pathogenic	1 lab	d2779f1a2d
22:35789560 HMOX1 C>T	22	35789560	35789560	C	T	HMOX1	c.836C>T	NM_002133.3	NP_002124.1:p.(Ala279Val)	NC_000022.10:g.35789560C>T	(Likely) benign	1 lab	81b2341f7b
X:154134751 F8 C>A	X	154134751	154134751	C	A	F8	c.5317G>T	NM_000132.3	NP_000123.1:p.(Glu1773Ter)	NC_000023.10:g.154134751C>A	(Likely) pathogenic	1 lab	81b30cced8
2:166231490 SCN2A T>C	2	166231490	166231490	T	C	SCN2A	c.4254+14T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166231490T>C	VUS	1 lab	81b3ec4e07
2:179638002 TTN GA>G	2	179638002	179638003	GA	G	TTN	c.7688del	NM_001267550.2	NP_001254479.2:p.(Val2563AlafsTer27)	NC_000002.11:g.179638003del	(Likely) pathogenic	1 lab	81b3ff3071
15:80450459 FAH A>G	15	80450459	80450459	A	G	FAH	c.139A>G	NM_000137.4	NP_000128.1:p.(Lys47Glu)	NC_000015.9:g.80450459A>G	(Likely) benign	1 lab	81b55b94ba
6:138200489 TNFAIP3 G>C	6	138200489	138200489	G	C	TNFAIP3	c.1906+1G>C	NM_006290.4	NP_006281.1:p.?	NC_000006.11:g.138200489G>C	(Likely) pathogenic	1 lab	81c2a78be4
17:72745417 NHERF1 C>T	17	72745417	72745417	C	T	NHERF1	c.432C>T	NM_004252.5	NP_004243.1:p.(His144=)	NC_000017.10:g.72745417C>T	(Likely) benign	1 lab	81c3999668
8:133184871 KCNQ3 T>A	8	133184871	133184871	T	A	KCNQ3	c.1114A>T	NM_004519.4	NP_004510.1:p.(Arg372Trp)	NC_000008.10:g.133184871T>A	VUS	1 lab	81c5ae4c26
4:187518041 FAT1 T>C	4	187518041	187518041	T	C	FAT1	c.12653A>G	NM_005245.4	NP_005236.2:p.(Asp4218Gly)	NC_000004.11:g.187518041T>C	(Likely) benign	1 lab	81ccd37ec0
2:179602993 TTN GAC>G	2	179602993	179602996	GAC	G	TTN	c.14185_14186del	NM_001267550.2	NP_001254479.2:p.(Val4729ProfsTer6)	NC_000002.11:g.179602995_179602996del	(Likely) pathogenic	1 lab	81cf587426
22:32302189 DEPDC5 A>G	22	32302189	32302189	A	G	DEPDC5	c.4520-2A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32302189A>G	(Likely) pathogenic	1 lab	81d69b7b14
12:52100373 SCN8A C>A	12	52100373	52100373	C	A	SCN8A	c.1509C>A	NM_001330260.2	NP_001317189.1:p.(Leu503=)	NC_000012.11:g.52100373C>A	(Likely) benign	1 lab	81e255424c
12:6560484 CD27 C>T	12	6560484	6560484	C	T	CD27	c.709C>T	NM_001242.4	NP_001233.1:p.(Pro237Ser)	NC_000012.11:g.6560484C>T	VUS	1 lab	81e5e1223c
5:37244512 CPLANE1 CT>C	5	37244512	37244515	CT	C	CPLANE1	c.534del	NM_001384732.1	NP_001371661.1:p.(Glu179LysfsTer3)	NC_000005.9:g.37244515del	(Likely) pathogenic	1 lab	81e9321c6a
1:62970397 DOCK7 C>T	1	62970397	62970397	C	T	DOCK7	c.4641G>A	NM_001271999.1	NP_001258928.1:p.(Arg1547=)	NC_000001.10:g.62970397C>T	(Likely) benign	1 lab	81e9f08616
18:32409417 DTNA T>A	18	32409417	32409417	T	A	DTNA	c.185T>A	NM_001198942.1	NP_001185871.1:p.(Ile62Lys)	NC_000018.9:g.32409417T>A	(Likely) benign	1 lab	81f232d2c8
2:166898961 SCN1A A>T	2	166898961	166898961	A	T	SCN1A	c.2044-27T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166898961A>T	(Likely) benign	1 lab	81f485a067
X:63410868 AMER1 C>T	X	63410868	63410868	C	T	AMER1	c.2299G>A	NM_152424.4	NP_689637.3:p.(Val767Met)	NC_000023.10:g.63410868C>T	VUS	1 lab	d27afe2a17
16:4747365 ANKS3 C>T	16	4747365	4747365	C	T	ANKS3	c.1863G>A	NM_133450.4	NP_597707.1:p.(Ser621=)	NC_000016.9:g.4747365C>T	(Likely) benign	1 lab	81fde3b772
4:78979257 FRAS1 C>CGT	4	78979257	78979274	C	CGT	FRAS1	c.76+34_76+35dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979273_78979274dup	(Likely) benign	1 lab	81fe6b819b
19:3980852 EEF2 G>A	19	3980852	3980852	G	A	EEF2	c.1137C>T	NM_001961.4	NP_001952.1:p.(Asp379=)	NC_000019.9:g.3980852G>A	(Likely) benign	1 lab	8200a88269
19:13386457 CACNA1A AG>A	19	13386457	13386464	AG	A	CACNA1A	c.3989+206del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13386464del	(Likely) benign	1 lab	82091346cf
9:14773991 FREM1 G>A	9	14773991	14773991	G	A	FREM1	c.4857+1796C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14773991G>A	(Likely) benign	1 lab	820be29f35
12:67072494 GRIP1 T>C	12	67072494	67072494	T	C	GRIP1	c.55+136A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.67072494T>C	(Likely) benign	1 lab	820ce97a80
3:9792643 OGG1 G>C	3	9792643	9792643	G	C	OGG1	c.152G>C	NM_016828.2	NP_058437.1:p.(Ser51Thr)	NC_000003.11:g.9792643G>C	(Likely) benign	1 lab	820e20dd47
22:21107208 PI4KA T>C	22	21107208	21107208	T	C	PI4KA	c.2970A>G	NM_058004.4	NP_477352.3:p.(Leu990=)	NC_000022.10:g.21107208T>C	(Likely) benign	1 lab	821984c636
22:19754276 TBX1 C>T	22	19754276	19754276	C	T	TBX1	c.1374C>T	NM_080647.1	NP_542378.1:p.(Pro458=)	NC_000022.10:g.19754276C>T	(Likely) benign	1 lab	8219f74fae
16:3293419 MEFV C>G	16	3293419	3293419	C	G	MEFV	c.2068G>C	NM_000243.2	NP_000234.1:p.(Val690Leu)	NC_000016.9:g.3293419C>G	(Likely) pathogenic	1 lab	821d12d6c2
2:31751174 SRD5A2 C>CATATATATATATATATAT	2	31751174	31751175	C	CATATATATATATATATAT	SRD5A2	c.*91_*92insATATATATATATATATAT	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31751174_31751175insATATATATATATATATAT	(Likely) benign	1 lab	821fc98844
14:105174336 INF2 C>T	14	105174336	105174336	C	T	INF2	c.1732C>T	NM_022489.3	NP_071934.3:p.(Arg578Cys)	NC_000014.8:g.105174336C>T	(Likely) benign	1 lab	82206fc428
3:127775698 SEC61A1 GA>G	3	127775698	127775700	GA	G	SEC61A1	c.352+17del	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127775700del	(Likely) benign	1 lab	8220e0b377
5:151208626 GLRA1 C>T	5	151208626	151208626	C	T	GLRA1	c.915G>A	NM_001146040.2	NP_001139512.1:p.(Val305=)	NC_000005.9:g.151208626C>T	(Likely) benign	1 lab	82288747db
1:145508479 RBM8A T>C	1	145508479	145508479	T	C	RBM8A	c.210T>C	NM_005105.4	NP_005096.1:p.(Val70=)	NC_000001.10:g.145508479T>C	(Likely) benign	1 lab	8233f743f2
16:2158838 PKD1 G>A	16	2158838	2158838	G	A	PKD1	c.6330C>T	NM_001009944.2	NP_001009944.2:p.(Ala2110=)	NC_000016.9:g.2158838G>A	(Likely) benign	1 lab	82394dba6e
18:59739961 PIGN GTA>G	18	59739961	59739963	GTA	G	PIGN	c.2620-5_2620-4del	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59739962_59739963del	(Likely) benign	1 lab	824736617d
9:14759913 FREM1 G>A	9	14759913	14759913	G	A	FREM1	c.5205-14C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14759913G>A	(Likely) benign	1 lab	8248ca25b3
1:160319191 NCSTN C>T	1	160319191	160319191	C	T	NCSTN	c.315-148C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160319191C>T	(Likely) benign	1 lab	825140ba10
14:94847351 SERPINA1 C>T	14	94847351	94847351	C	T	SERPINA1	c.774G>A	NM_000295.5	NP_000286.3:p.(Lys258=)	NC_000014.8:g.94847351C>T	(Likely) benign	1 lab	8253620c73
2:166915098 SCN1A A>G	2	166915098	166915098	A	G	SCN1A	c.365T>C	NM_001165963.3	NP_001159435.1:p.(Ile122Thr)	NC_000002.11:g.166915098A>G	(Likely) pathogenic	1 lab	82581cae54
1:155161790 MUC1 C>T	1	155161790	155161790	C	T	MUC1	c.370G>A	NM_001204286.1	NP_001191215.1:p.(Ala124Thr)	NC_000001.10:g.155161790C>T	(Likely) benign	1 lab	8263376920
11:36597734 RAG1 A>G	11	36597734	36597734	A	G	RAG1	c.2880A>G	NM_000448.2	NP_000439.1:p.(Ala960=)	NC_000011.9:g.36597734A>G	(Likely) benign	1 lab	8265720d1f
1:158654852 SPTA1 A>G	1	158654852	158654852	A	G	SPTA1	c.264+46T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158654852A>G	(Likely) benign	1 lab	82660ba5b3
17:78166434 CARD14 CCG>C	17	78166434	78166437	CCG	C	CARD14	c.1356+18_1356+19del	NM_001366385.1	NP_001353314.1:p.?	NC_000017.10:g.78166436_78166437del	(Likely) benign	1 lab	82667fbd51
X:76938208 ATRX A>G	X	76938208	76938208	A	G	ATRX	c.2540T>C	NM_000489.5	NP_000480.3:p.(Phe847Ser)	NC_000023.10:g.76938208A>G	(Likely) benign	1 lab	82671aca02
16:3304172 MEFV T>C	16	3304172	3304172	T	C	MEFV	c.896A>G	NM_000243.2	NP_000234.1:p.(Glu299Gly)	NC_000016.9:g.3304172T>C	VUS	1 lab	8269e8b910
6:33626783 ITPR3 C>T	6	33626783	33626783	C	T	ITPR3	c.529-15C>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33626783C>T	(Likely) benign	1 lab	826fe0194e
15:89398105 ACAN C>T	15	89398105	89398105	C	T	ACAN	c.2289C>T	NM_013227.4	NP_037359.3:p.(Pro763=)	NC_000015.9:g.89398105C>T	(Likely) benign	1 lab	d27b926f8f
15:93521331 CHD2 C>T	15	93521331	93521331	C	T	CHD2	c.2578-133C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93521331C>T	(Likely) benign	1 lab	8279d19fb5
1:218607861 TGFB2 T>C	1	218607861	218607861	T	C	TGFB2	c.838+71T>C	NM_001135599.3	NP_001129071.1:p.?	NC_000001.10:g.218607861T>C	(Likely) benign	1 lab	827ea1eb1d
21:34660711 IL10RB G>C	21	34660711	34660711	G	C	IL10RB				NC_000021.8:g.34660711G>C	(Likely) benign	1 lab	827f51b446
11:108098460 ATM A>G	11	108098460	108098460	A	G	ATM	c.72+37A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098460A>G	(Likely) benign	1 lab	8282090d9e
5:37164434 CPLANE1 A>T	5	37164434	37164434	A	T	CPLANE1	c.7534-5T>A	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37164434A>T	(Likely) benign	1 lab	828670d4c4
17:43552635 PLEKHM1 G>C	17	43552635	43552635	G	C	PLEKHM1	c.754C>G	NM_014798.3	NP_055613.1:p.(Leu252Val)	NC_000017.10:g.43552635G>C	VUS	1 lab	d27c7180ab
22:40759233 ADSL T>C	22	40759233	40759233	T	C	ADSL	c.1101+158T>C	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40759233T>C	(Likely) benign	1 lab	828d03af3b
4:103517382 NFKB1 T>C	4	103517382	103517382	T	C	NFKB1	c.1388T>C	NM_003998.4	NP_003989.2:p.(Ile463Thr)	NC_000004.11:g.103517382T>C	(Likely) benign	1 lab	829024560d
2:227958857 COL4A4 G>A	2	227958857	227958857	G	A	COL4A4	c.1353C>T	NM_000092.4	NP_000083.3:p.(Gly451=)	NC_000002.11:g.227958857G>A	(Likely) benign	1 lab	829178e7ad
10:112581700 RBM20 A>G	10	112581700	112581700	A	G	RBM20	c.3316+7A>G	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112581700A>G	(Likely) benign	1 lab	82962f0b9b
10:33224415 ITGB1 T>C	10	33224415	33224415	T	C	ITGB1	c.67+5A>G	NM_002211.4	NP_002202.2:p.?	NC_000010.10:g.33224415T>C	(Likely) benign	1 lab	82a0e1d159
7:77764564 MAGI2 C>G	7	77764564	77764564	C	G	MAGI2	c.2846-41G>C	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77764564C>G	(Likely) benign	1 lab	82ac134ef1
8:41529789 ANK1 C>T	8	41529789	41529789	C	T	ANK1	c.5219+83G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41529789C>T	(Likely) benign	1 lab	82aff81006
12:53819626 AMHR2 C>T	12	53819626	53819626	C	T	AMHR2	c.775C>T	NM_020547.3	NP_065434.1:p.(Arg259Ter)	NC_000012.11:g.53819626C>T	(Likely) pathogenic	1 lab	82b0c2762e
19:54301519 NLRP12 C>T	19	54301519	54301519	C	T	NLRP12	c.2905G>A	NM_144687.4	NP_653288.1:p.(Ala969Thr)	NC_000019.9:g.54301519C>T	(Likely) benign	1 lab	82b4fd594e
X:32563348 DMD G>C	X	32563348	32563348	G	C	DMD	c.1727C>G	NM_004010.3	NP_004001.1:p.(Ala576Gly)	NC_000023.10:g.32563348G>C	(Likely) benign	1 lab	82b5377ead
5:37227810 CPLANE1 AG>A	5	37227810	37227813	AG	A	CPLANE1	c.1230del	NM_001384732.1	NP_001371661.1:p.(Tyr411ThrfsTer25)	NC_000005.9:g.37227813del	(Likely) pathogenic	1 lab	82b7c42f04
2:166229841 SCN2A G>A	2	166229841	166229841	G	A	SCN2A	c.3956G>A	NM_001040142.2	NP_001035232.1:p.(Arg1319Gln)	NC_000002.11:g.166229841G>A	(Likely) pathogenic	1 lab	82bbcc7e34
X:53573705 HUWE1 G>A	X	53573705	53573705	G	A	HUWE1	c.10718C>T	NM_031407.7	NP_113584.3:p.(Ser3573Phe)	NC_000023.10:g.53573705G>A	VUS	1 lab	d27da9953b
5:176070128 EIF4E1B A>G	5	176070128	176070128	A	G	EIF4E1B	c.61A>G	NM_001099408.2	NP_001092878.1:p.(Lys21Glu)	NC_000005.9:g.176070128A>G	(Likely) benign	1 lab	82c6d29d50
1:155204903 GBA1 G>A	1	155204903	155204903	G	A	GBA1	c.1506-12C>T	NM_001005741.3	NP_001005741.1:p.?	NC_000001.10:g.155204903G>A	(Likely) benign	1 lab	82c9f19c08
1:161519723 FCGR3A C>A	1	161519723	161519723	C	A	FCGR3A	c.119G>T	NM_000569.7	NP_000560.6:p.(Gly40Val)	NC_000001.10:g.161519723C>A	(Likely) benign	1 lab	82cb3c9faf
22:37272156 NCF4 G>C	22	37272156	37272156	G	C	NCF4	c.*22+20G>C	NM_013416.3	NP_038202.2:p.?	NC_000022.10:g.37272156G>C	(Likely) benign	1 lab	82cc446bdd
2:109370367 RANBP2 C>T	2	109370367	109370367	C	T	RANBP2	c.2142C>T	NM_006267.4	NP_006258.3:p.(Thr714=)	NC_000002.11:g.109370367C>T	(Likely) benign	1 lab	82cfed096b
16:3293408 MEFV C>G	16	3293408	3293408	C	G	MEFV	c.2079G>C	NM_000243.2	NP_000234.1:p.(Met693Ile)	NC_000016.9:g.3293408C>G	VUS	1 lab	82d1c9459b
19:39214636 ACTN4 G>A	19	39214636	39214636	G	A	ACTN4	c.1611G>A	NM_004924.6	NP_004915.2:p.(Ala537=)	NC_000019.9:g.39214636G>A	(Likely) benign	1 lab	82d234b52f
20:42788829 JPH2 A>C	20	42788829	42788829	A	C	JPH2	c.598T>G	NM_020433.4	NP_065166.2:p.(Phe200Val)	NC_000020.10:g.42788829A>C	VUS	1 lab	82de8d7ba0
16:20359959 UMOD G>A	16	20359959	20359959	G	A	UMOD	c.664C>T	NM_003361.3	NP_003352.2:p.(Arg222Cys)	NC_000016.9:g.20359959G>A	(Likely) pathogenic	1 lab	82e077606f
9:138676328 KCNT1 GCTCCCTCCCTCCCTCCCTCCCTCCCTCC>G	9	138676328	138676374	GCTCCCTCCCTCCCTCCCTCCCTCCCTCC	G	KCNT1	c.2944-34_2944-7del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138676347_138676374del	(Likely) benign	1 lab	82e08bdced
7:130044398 CEP41 C>T	7	130044398	130044398	C	T	CEP41	c.422+7G>A	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130044398C>T	(Likely) benign	1 lab	82e0ba3f83
10:33212505 ITGB1 G>A	10	33212505	33212505	G	A	ITGB1	c.942+8C>T	NM_002211.4	NP_002202.2:p.?	NC_000010.10:g.33212505G>A	(Likely) benign	1 lab	82e3c6869c
5:161524944 GABRG2 GA>G	5	161524944	161524956	GA	G	GABRG2	c.548+92del	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161524956del	(Likely) benign	1 lab	82efb065fd
20:61048473 GATA5 G>A	20	61048473	61048473	G	A	GATA5	c.685C>T	NM_080473.5	NP_536721.1:p.(Pro229Ser)	NC_000020.10:g.61048473G>A	VUS	1 lab	82f2bfacfb
1:155264177 PKLR C>A	1	155264177	155264177	C	A	PKLR	c.966-1G>T	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155264177C>A	(Likely) pathogenic	1 lab	82f2d620ce
17:41256087 BRCA1 GA>G	17	41256087	41256097	GA	G	BRCA1	c.441+51del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256097del	(Likely) benign	1 lab	82f5b86fd8
5:90119211 ADGRV1 G>T	5	90119211	90119211	G	T	ADGRV1	c.16197-31G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90119211G>T	(Likely) benign	1 lab	82f8e41345
X:1413208 CSF2RA G>A	X	1413208	1413208	G	A	CSF2RA	c.647-13G>A	NM_001161530.1	NP_001155002.1:p.?	NC_000023.10:g.1413208G>A	(Likely) benign	1 lab	82fadde213
10:21178850 NEBL G>A	10	21178850	21178850	G	A	NEBL	c.182C>T	NM_006393.2	NP_006384.1:p.(Ser61Phe)	NC_000010.10:g.21178850G>A	(Likely) benign	1 lab	82fc7fbf27
10:73082533 SLC29A3 G>A	10	73082533	73082533	G	A	SLC29A3	c.22G>A	NM_018344.6	NP_060814.4:p.(Asp8Asn)	NC_000010.10:g.73082533G>A	(Likely) benign	1 lab	82fdbdd7f6
1:1459323 ATAD3A C>T	1	1459323	1459323	C	T	ATAD3A	c.1068C>T	NM_001170535.3	NP_001164006.1:p.(Thr356=)	NC_000001.10:g.1459323C>T	(Likely) benign	1 lab	82ff56a8ba
12:33003840 PKP2 C>T	12	33003840	33003840	C	T	PKP2	c.1238G>A	NM_004572.3	NP_004563.2:p.(Arg413Gln)	NC_000012.11:g.33003840C>T	VUS	1 lab	8303039c7f
9:126129601 CRB2 C>T	9	126129601	126129601	C	T	CRB2	c.905C>T	NM_173689.7	NP_775960.4:p.(Ala302Val)	NC_000009.11:g.126129601C>T	(Likely) benign	1 lab	83035c040a
20:61982271 CHRNA4 G>A	20	61982271	61982271	G	A	CHRNA4	c.492C>T	NM_000744.6	NP_000735.1:p.(Asp164=)	NC_000020.10:g.61982271G>A	(Likely) benign	1 lab	830526ba35
10:90521946 LIPN G>A	10	90521946	90521946	G	A	LIPN	c.110G>A	NM_001102469.2	NP_001095939.1:p.(Ser37Asn)	NC_000010.10:g.90521946G>A	(Likely) benign	1 lab	d28142bb53
17:76134495 TMC8 C>T	17	76134495	76134495	C	T	TMC8	c.1599C>T	NM_152468.4	NP_689681.2:p.(Phe533=)	NC_000017.10:g.76134495C>T	(Likely) benign	1 lab	8311239804
8:38021243 LSM1 G>T	8	38021243	38021243	G	T	LSM1	c.347C>A	NM_014462.3	NP_055277.1:p.(Ala116Asp)	NC_000008.10:g.38021243G>T	(Likely) benign	1 lab	831b1c3356
8:133186541 KCNQ3 C>T	8	133186541	133186541	C	T	KCNQ3	c.989G>A	NM_004519.4	NP_004510.1:p.(Arg330His)	NC_000008.10:g.133186541C>T	(Likely) pathogenic	1 lab	8322356b0f
8:11421450 BLK G>A	8	11421450	11421450	G	A	BLK	c.1351G>A	NM_001715.3	NP_001706.2:p.(Gly451Ser)	NC_000008.10:g.11421450G>A	(Likely) benign	1 lab	8323306304
5:70238612 SMN1 A>G	5	70238612	70238612	A	G	SMN1	c.542A>G	NM_000344.3	NP_000335.1:p.(Asp181Gly)	NC_000005.9:g.70238612A>G	(Likely) pathogenic	1 lab	83284d8a27
16:58589817 CNOT1 T>C	16	58589817	58589817	T	C	CNOT1	c.2465-5A>G	NM_001265612.2	NP_001252541.1:p.?	NC_000016.9:g.58589817T>C	(Likely) benign	1 lab	d28214d33f
14:105169777 INF2 G>A	14	105169777	105169777	G	A	INF2	c.653G>A	NM_022489.3	NP_071934.3:p.(Arg218Gln)	NC_000014.8:g.105169777G>A	(Likely) pathogenic	1 lab	83309649cd
16:4848579 ROGDI G>A	16	4848579	4848579	G	A	ROGDI	c.522C>T	NM_024589.2	NP_078865.1:p.(Ser174=)	NC_000016.9:g.4848579G>A	(Likely) benign	1 lab	8332c489c7
12:6442654 TNFRSF1A GC>TG	12	6442654	6442655	GC	TG	TNFRSF1A	c.350_351delinsCA	NM_001065.3	NP_001056.1:p.(Cys117Ser)	NC_000012.11:g.6442654_6442655delinsTG	(Likely) pathogenic	1 lab	833393655a
12:33031065 PKP2 C>T	12	33031065	33031065	C	T	PKP2	c.749G>A	NM_004572.3	NP_004563.2:p.(Arg250His)	NC_000012.11:g.33031065C>T	(Likely) benign	1 lab	833693f1e1
19:13372265 CACNA1A G>A	19	13372265	13372265	G	A	CACNA1A	c.4261C>T	NM_023035.3	NP_075461.2:p.(Arg1421Ter)	NC_000019.9:g.13372265G>A	(Likely) pathogenic	1 lab	83369858d1
9:130582319 ENG G>C	9	130582319	130582319	G	C	ENG	c.1135-3C>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130582319G>C	(Likely) pathogenic	1 lab	833e023d7b
5:161580135 GABRG2 A>G	5	161580135	161580135	A	G	GABRG2				NC_000005.9:g.161580135A>G	(Likely) benign	1 lab	83428e8599
17:41061381 G6PC C>T	17	41061381	41061381	C	T	G6PC				NC_000017.10:g.41061381C>T	(Likely) pathogenic	1 lab	8346974b75
10:81318737 SFTPA2 G>A	10	81318737	81318737	G	A	SFTPA2	c.197C>T	NM_001098668.4	NP_001092138.1:p.(Thr66Ile)	NC_000010.10:g.81318737G>A	(Likely) benign	1 lab	83477c1cc3
12:52314579 ACVRL1 T>C	12	52314579	52314579	T	C	ACVRL1	c.1414T>C	NM_000020.2	NP_000011.2:p.(Trp472Arg)	NC_000012.11:g.52314579T>C	(Likely) pathogenic	1 lab	8347dddb52
1:160261821 COPA T>C	1	160261821	160261821	T	C	COPA	c.3128A>G	NM_004371.4	NP_004362.2:p.(Asn1043Ser)	NC_000001.10:g.160261821T>C	(Likely) benign	1 lab	83484977df
7:81591349 CACNA2D1 C>T	7	81591349	81591349	C	T	CACNA2D1	c.2837-10G>A	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81591349C>T	(Likely) benign	1 lab	8349175a79
18:33795659 MOCOS G>T	18	33795659	33795659	G	T	MOCOS	c.1516G>T	NM_017947.4	NP_060417.4:p.(Gly506Trp)	NC_000018.9:g.33795659G>T	(Likely) benign	1 lab	834a264c7d
10:8097687 GATA3 C>T	10	8097687	8097687	C	T	GATA3	c.69C>T	NM_001002295.2	NP_001002295.1:p.(His23=)	NC_000010.10:g.8097687C>T	(Likely) benign	1 lab	834dfce697
17:5461901 NLRP1 C>T	17	5461901	5461901	C	T	NLRP1	c.2115G>A	NM_033004.4	NP_127497.1:p.(Pro705=)	NC_000017.10:g.5461901C>T	(Likely) benign	1 lab	8350aa11e5
2:166870322 SCN1A G>A	2	166870322	166870322	G	A	SCN1A	c.3637C>T	NM_001165963.3	NP_001159435.1:p.(Arg1213Ter)	NC_000002.11:g.166870322G>A	(Likely) pathogenic	1 lab	835283645b
17:72758264 NHERF1 C>A	17	72758264	72758264	C	A	NHERF1	c.555C>A	NM_004252.5	NP_004243.1:p.(Asp185Glu)	NC_000017.10:g.72758264C>A	(Likely) benign	1 lab	835bcf84b6
2:179511772 TTN T>C	2	179511772	179511772	T	C	TTN	c.40222+19A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179511772T>C	(Likely) benign	1 lab	835e3ccdef
5:90074759 ADGRV1 G>A	5	90074759	90074759	G	A	ADGRV1	c.12927G>A	NM_032119.4	NP_115495.3:p.(Ala4309=)	NC_000005.9:g.90074759G>A	(Likely) benign	1 lab	836075617c
8:100443679 VPS13B A>T	8	100443679	100443679	A	T	VPS13B	c.3083-86A>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100443679A>T	(Likely) benign	1 lab	83674b8471
18:21118573 NPC1 C>G	18	21118573	21118573	C	G	NPC1	c.2974G>C	NM_000271.5	NP_000262.2:p.(Gly992Arg)	NC_000018.9:g.21118573C>G	(Likely) pathogenic	1 lab	836b3a954d
12:98909658 TMPO C>T	12	98909658	98909658	C	T	TMPO	c.13C>T	NM_001032283.2	NP_001027454.1:p.(Leu5=)	NC_000012.11:g.98909658C>T	(Likely) benign	1 lab	836f650c7f
2:231077540 SP110 C>T	2	231077540	231077540	C	T	SP110	c.519G>A	NM_004509.4	NP_004500.4:p.(Ser173=)	NC_000002.11:g.231077540C>T	(Likely) benign	1 lab	83704873cb
2:217281213 SMARCAL1 G>A	2	217281213	217281213	G	A	SMARCAL1	c.862+183G>A	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217281213G>A	(Likely) benign	1 lab	8372cf65b1
1:196646756 CFH C>T	1	196646756	196646756	C	T	CFH	c.578C>T	NM_000186.3	NP_000177.2:p.(Ser193Leu)	NC_000001.10:g.196646756C>T	VUS	1 lab	8375c9b92a
6:32945698 BRD2 TGAG>T	6	32945698	32945706	TGAG	T	BRD2	c.1500_1502del	NM_005104.4	NP_005095.1:p.(Glu500del)	NC_000006.11:g.32945704_32945706del	(Likely) benign	1 lab	83772a9904
7:87038681 ABCB4 T>C	7	87038681	87038681	T	C	ABCB4	c.2952A>G	NM_000443.4	NP_000434.1:p.(Ala984=)	NC_000007.13:g.87038681T>C	(Likely) benign	1 lab	8379fd5aa8
4:126328144 FAT4 G>A	4	126328144	126328144	G	A	FAT4				NC_000004.11:g.126328144G>A	(Likely) benign	1 lab	837e425f83
19:54304483 NLRP12 C>G	19	54304483	54304483	C	G	NLRP12	c.2754G>C	NM_144687.4	NP_653288.1:p.(Leu918=)	NC_000019.9:g.54304483C>G	(Likely) benign	1 lab	83809ae324
8:42147797 IKBKB G>T	8	42147797	42147797	G	T	IKBKB	c.318+6G>T	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42147797G>T	(Likely) benign	1 lab	83833854c5
2:152709944 CACNB4 A>G	2	152709944	152709944	A	G	CACNB4	c.1014+18T>C	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152709944A>G	(Likely) benign	1 lab	83837ce398
10:16911822 CUBN G>A	10	16911822	16911822	G	A	CUBN	c.9267C>T	NM_001081.3	NP_001072.2:p.(Thr3089=)	NC_000010.10:g.16911822G>A	(Likely) benign	1 lab	838897f82b
17:41228559 BRCA1 A>C	17	41228559	41228559	A	C	BRCA1	c.4430T>G	NM_007294.3	NP_009225.1:p.(Phe1477Cys)	NC_000017.10:g.41228559A>C	(Likely) benign	1 lab	8388c535c0
5:131008252 FNIP1 C>T	5	131008252	131008252	C	T	FNIP1	c.1885G>A	NM_133372.3	NP_588613.3:p.(Glu629Lys)	NC_000005.9:g.131008252C>T	(Likely) benign	1 lab	838eca0cd7
20:60913668 LAMA5 G>C	20	60913668	60913668	G	C	LAMA5	c.1478-4C>G	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60913668G>C	(Likely) benign	1 lab	8390d33b7b
9:124062241 GSN G>T	9	124062241	124062241	G	T	GSN	c.102G>T	NM_000177.5	NP_000168.1:p.(Ala34=)	NC_000009.11:g.124062241G>T	(Likely) benign	1 lab	83938c0e27
7:140434574 BRAF C>CAAAAAAAAAAAAAAAAAAAA	7	140434574	140434586	C	CAAAAAAAAAAAAAAAAAAAA	BRAF	c.2128-5_2128-4insTTTTTTTTTTTTTTTTTTTT	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140434585_140434586insAAAAAAAAAAAAAAAAAAAA	(Likely) benign	1 lab	8398090d19
7:73461048 ELN G>A	7	73461048	73461048	G	A	ELN	c.594G>A	NM_001278939.1	NP_001265868.1:p.(Pro198=)	NC_000007.13:g.73461048G>A	(Likely) benign	1 lab	83985bafd9
18:33780188 MOCOS C>T	18	33780188	33780188	C	T	MOCOS	c.842C>T	NM_017947.4	NP_060417.4:p.(Ala281Val)	NC_000018.9:g.33780188C>T	(Likely) benign	1 lab	83992ecc44
10:100380370 HPSE2 A>G	10	100380370	100380370	A	G	HPSE2	c.1194T>C	NM_021828.4	NP_068600.4:p.(Ala398=)	NC_000010.10:g.100380370A>G	(Likely) benign	1 lab	839fa3ec7b
16:2160903 PKD1 G>T	16	2160903	2160903	G	T	PKD1	c.4265C>A	NM_001009944.2	NP_001009944.2:p.(Ala1422Asp)	NC_000016.9:g.2160903G>T	(Likely) benign	1 lab	83a0e07577
16:1252124 CACNA1H G>A	16	1252124	1252124	G	A	CACNA1H	c.1674G>A	NM_021098.3	NP_066921.2:p.(Ser558=)	NC_000016.9:g.1252124G>A	(Likely) benign	1 lab	83a6e2bedf
20:47989982 KCNB1 G>A	20	47989982	47989982	G	A	KCNB1	c.2115C>T	NM_004975.4	NP_004966.1:p.(Val705=)	NC_000020.10:g.47989982G>A	(Likely) benign	1 lab	83aa46b71e
5:14367010 TRIO C>T	5	14367010	14367010	C	T	TRIO	c.2796C>T	NM_007118.4	NP_009049.2:p.(Ala932=)	NC_000005.9:g.14367010C>T	(Likely) benign	1 lab	83af417438
1:78401490 NEXN TATTA>T	1	78401490	78401497	TATTA	T	NEXN	c.1252-14_1252-11del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78401494_78401497del	(Likely) benign	1 lab	83afbe8ab6
1:247587746 NLRP3 G>A	1	247587746	247587746	G	A	NLRP3	c.995G>A	NM_001243133.2	NP_001230062.1:p.(Ser332Asn)	NC_000001.10:g.247587746G>A	VUS	1 lab	83b31f63d9
8:11607686 GATA4 C>T	8	11607686	11607686	C	T	GATA4	c.850C>T	NM_002052.5	NP_002043.2:p.(Arg284Cys)	NC_000008.10:g.11607686C>T	VUS	1 lab	83b40c4405
7:128478367 FLNC A>G	7	128478367	128478367	A	G	FLNC	c.1094A>G	NM_001458.4	NP_001449.3:p.(Glu365Gly)	NC_000007.13:g.128478367A>G	VUS	1 lab	83b50b2ce4
12:2714204 CACNA1C G>A	12	2714204	2714204	G	A	CACNA1C	c.3021-43G>A	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2714204G>A	(Likely) benign	1 lab	83b82de3b1
16:1260354 CACNA1H G>C	16	1260354	1260354	G	C	CACNA1H	c.3846-16G>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260354G>C	(Likely) benign	1 lab	83b84439b3
16:2156644 PKD1 A>C	16	2156644	2156644	A	C	PKD1	c.7244T>G	NM_001009944.2	NP_001009944.2:p.(Leu2415Arg)	NC_000016.9:g.2156644A>C	(Likely) pathogenic	1 lab	83b99215a1
2:109382302 RANBP2 G>A	2	109382302	109382302	G	A	RANBP2	c.5307G>A	NM_006267.4	NP_006258.3:p.(Lys1769=)	NC_000002.11:g.109382302G>A	(Likely) benign	1 lab	83c39f648f
8:17942332 ASAH1 A>G	8	17942332	17942332	A	G	ASAH1	c.-22T>C	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17942332A>G	(Likely) benign	1 lab	83c463c222
1:100356892 AGL C>T	1	100356892	100356892	C	T	AGL	c.2929C>T	NM_000642.3	NP_000633.2:p.(Arg977Ter)	NC_000001.10:g.100356892C>T	(Likely) pathogenic	1 lab	83c75151d8
16:67681681 CARMIL2 GAGGGAGGGGGTGA>G	16	67681681	67681694	GAGGGAGGGGGTGA	G	CARMIL2	c.958+13_958+25del	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67681682_67681694del	(Likely) benign	1 lab	83cc3cc80a
8:100444076 VPS13B A>C	8	100444076	100444076	A	C	VPS13B	c.3210+184A>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100444076A>C	(Likely) benign	1 lab	83da3d77a7
13:32953265 BRCA2 G>A	13	32953265	32953265	G	A	BRCA2	c.8755-189G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953265G>A	(Likely) benign	1 lab	83ddf19ae8
19:13597506 CACNA1A GTC>G	19	13597506	13597513	GTC	G	CACNA1A	c.293+19238_293+19239del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13597512_13597513del	(Likely) benign	1 lab	83de6aee63
2:177202272 MTX2 C>G	2	177202272	177202272	C	G	MTX2	c.642C>G	NM_001006635.3	NP_001006636.1:p.(Thr214=)	NC_000002.11:g.177202272C>G	(Likely) benign	1 lab	83df8f8e65
1:22163402 HSPG2 G>A	1	22163402	22163402	G	A	HSPG2	c.10251C>T	NM_001291860.2	NP_001278789.1:p.(Ser3417=)	NC_000001.10:g.22163402G>A	(Likely) benign	1 lab	83df953aac
22:32200849 DEPDC5 C>T	22	32200849	32200849	C	T	DEPDC5	c.1165C>T	NM_001242896.3	NP_001229825.1:p.(Arg389Cys)	NC_000022.10:g.32200849C>T	(Likely) benign	1 lab	83e0edf482
6:33642006 ITPR3 G>A	6	33642006	33642006	G	A	ITPR3	c.3080G>A	NM_002224.4	NP_002215.2:p.(Arg1027His)	NC_000006.11:g.33642006G>A	VUS	1 lab	d28decbc8f
10:13214778 MCM10 C>T	10	13214778	13214778	C	T	MCM10	c.595+13C>T	NM_182751.3	NP_877428.1:p.?	NC_000010.10:g.13214778C>T	(Likely) benign	1 lab	83e44974e7
22:32238943 DEPDC5 CA>C	22	32238943	32238945	CA	C	DEPDC5	c.2516-136del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32238945del	(Likely) benign	1 lab	83e58889fe
12:110028662 MVK T>C	12	110028662	110028662	T	C	MVK	c.764T>C	NM_000431.2	NP_000422.1:p.(Leu255Pro)	NC_000012.11:g.110028662T>C	VUS	1 lab	83ea6afcba
2:73799384 ALMS1 T>C	2	73799384	73799384	T	C	ALMS1	c.10388-5T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73799384T>C	(Likely) benign	1 lab	83f1050e1e
2:145147577 ZEB2 C>A	2	145147577	145147577	C	A	ZEB2	c.3086G>T	NM_014795.4	NP_055610.1:p.(Cys1029Phe)	NC_000002.11:g.145147577C>A	(Likely) pathogenic	1 lab	83f391d88b
9:137620509 COL5A1 C>T	9	137620509	137620509	C	T	COL5A1	c.787-7C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137620509C>T	(Likely) benign	1 lab	83f469948b
20:21695356 PAX1 C>T	20	21695356	21695356	C	T	PAX1	c.1520C>T	NM_006192.5	NP_006183.2:p.(Pro507Leu)	NC_000020.10:g.21695356C>T	(Likely) benign	1 lab	83f5b35e37
2:27306114 EMILIN1 C>T	2	27306114	27306114	C	T	EMILIN1	c.1675C>T	NM_007046.4	NP_008977.1:p.(Arg559Trp)	NC_000002.11:g.27306114C>T	(Likely) benign	1 lab	83fda5a49c
10:16949563 CUBN T>C	10	16949563	16949563	T	C	CUBN	c.7649A>G	NM_001081.3	NP_001072.2:p.(Asp2550Gly)	NC_000010.10:g.16949563T>C	VUS	1 lab	83fe36e9e2
3:9969850 IL17RC G>A	3	9969850	9969850	G	A	IL17RC	c.1036G>A	NM_153461.4	NP_703191.2:p.(Val346Met)	NC_000003.11:g.9969850G>A	(Likely) benign	1 lab	84025c1816
4:37903761 TBC1D1 C>T	4	37903761	37903761	C	T	TBC1D1	c.45C>T	NM_015173.4	NP_055988.2:p.(Asn15=)	NC_000004.11:g.37903761C>T	(Likely) benign	1 lab	84068bdf5c
X:30322835 NR0B1 C>G	X	30322835	30322835	C	G	NR0B1	c.1274G>C	NM_000475.5	NP_000466.2:p.(Arg425Thr)	NC_000023.10:g.30322835C>G	VUS	1 lab	8407082295
7:77764506 MAGI2 C>T	7	77764506	77764506	C	T	MAGI2	c.2863G>A	NM_012301.4	NP_036433.2:p.(Gly955Arg)	NC_000007.13:g.77764506C>T	(Likely) benign	1 lab	84111e6995
2:179436971 TTN T>A	2	179436971	179436971	T	A	TTN	c.73888A>T	NM_001267550.1	NP_001254479.1:p.(Arg24630Ter)	NC_000002.11:g.179436971T>A	(Likely) pathogenic	1 lab	8411ebc096
17:73729660 ITGB4 G>A	17	73729660	73729660	G	A	ITGB4	c.1544G>A	NM_000213.5	NP_000204.3:p.(Arg515His)	NC_000017.10:g.73729660G>A	(Likely) benign	1 lab	84155c31c2
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	841b75f34e
1:160390935 VANGL2 A>G	1	160390935	160390935	A	G	VANGL2	c.1031A>G	NM_020335.3	NP_065068.1:p.(Glu344Gly)	NC_000001.10:g.160390935A>G	VUS	1 lab	841d4aa778
17:37822118 TCAP G>A	17	37822118	37822118	G	A	TCAP	c.260G>A	NM_003673.3	NP_003664.1:p.(Arg87Gln)	NC_000017.10:g.37822118G>A	VUS	1 lab	841d879cb5
X:21444611 CNKSR2 G>A	X	21444611	21444611	G	A	CNKSR2	c.65-4G>A	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21444611G>A	(Likely) benign	1 lab	841dba9564
2:47274410 TTC7A T>G	2	47274410	47274410	T	G	TTC7A	c.1925T>G	NM_001288951.2	NP_001275880.1:p.(Phe642Cys)	NC_000002.11:g.47274410T>G	(Likely) benign	1 lab	842016d9ed
17:78157961 CARD14 G>T	17	78157961	78157961	G	T	CARD14	c.599G>T	NM_024110.4	NP_077015.2:p.(Ser200Ile)	NC_000017.10:g.78157961G>T	(Likely) benign	1 lab	8422402940
17:73836086 UNC13D A>C	17	73836086	73836086	A	C	UNC13D	c.951+13T>G	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836086A>C	(Likely) benign	1 lab	8422a01df1
1:155160270 MUC1 C>T	1	155160270	155160270	C	T	MUC1	c.1036G>A	NM_001204286.1	NP_001191215.1:p.(Val346Met)	NC_000001.10:g.155160270C>T	(Likely) benign	1 lab	842edbb9b6
10:15561315 ITGA8 C>T	10	15561315	15561315	C	T	ITGA8	c.3079G>A	NM_003638.3	NP_003629.2:p.(Ala1027Thr)	NC_000010.10:g.15561315C>T	(Likely) benign	1 lab	8430a6865d
2:74689671 MOGS G>C	2	74689671	74689671	G	C	MOGS	c.1245C>G	NM_006302.3	NP_006293.2:p.(Ile415Met)	NC_000002.11:g.74689671G>C	(Likely) benign	1 lab	8431f72920
17:45016170 GOSR2 AGT>A	17	45016170	45016185	AGT	A	GOSR2	c.*58_*59del	NM_004287.5	NP_004278.2:p.?	NC_000017.10:g.45016184_45016185del	(Likely) benign	1 lab	843507c74d
14:65252188 SPTB C>T	14	65252188	65252188	C	T	SPTB	c.3855+67G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252188C>T	(Likely) benign	1 lab	84353b5e10
1:236631633 EDARADD A>G	1	236631633	236631633	A	G	EDARADD				NC_000001.10:g.236631633A>G	(Likely) benign	1 lab	8437c293d9
12:110019194 MVK T>C	12	110019194	110019194	T	C	MVK	c.372-6T>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110019194T>C	(Likely) pathogenic	1 lab	843839ad72
1:183559358 NCF2 T>G	1	183559358	183559358	T	G	NCF2	c.107A>C	NM_000433.3	NP_000424.2:p.(His36Pro)	NC_000001.10:g.183559358T>G	(Likely) benign	1 lab	843a326b71
2:179514619 TTN G>A	2	179514619	179514619	G	A	TTN	c.39820C>T	NM_001267550.1	NP_001254479.1:p.(Pro13274Ser)	NC_000002.11:g.179514619G>A	(Likely) benign	1 lab	843d95190a
10:73887894 ASCC1 T>A	10	73887894	73887894	T	A	ASCC1	c.969A>T	NM_001369085.1	NP_001356014.1:p.(Glu323Asp)	NC_000010.10:g.73887894T>A	(Likely) benign	1 lab	8442ec593c
6:85472245 TBX18 G>C	6	85472245	85472245	G	C	TBX18	c.497+17C>G	NM_001080508.3	NP_001073977.1:p.?	NC_000006.11:g.85472245G>C	(Likely) benign	1 lab	844f95f152
6:31961752 C4A C>T	6	31961752	31961752	C	T	C4A	c.2441C>T	NM_007293.2	NP_009224.2:p.(Ser814Phe)	NC_000006.11:g.31961752C>T	(Likely) benign	1 lab	844fdc48fc
6:33411402 SYNGAP1 C>T	6	33411402	33411402	C	T	SYNGAP1	c.3073C>T	NM_006772.3	NP_006763.2:p.(Gln1025Ter)	NC_000006.11:g.33411402C>T	(Likely) pathogenic	1 lab	8450158ea1
3:132407950 NPHP3 G>A	3	132407950	132407950	G	A	NPHP3	c.2851C>T	NM_153240.5	NP_694972.3:p.(Arg951Ter)	NC_000003.11:g.132407950G>A	(Likely) pathogenic	1 lab	8450727a16
21:35255987 ITSN1 C>T	21	35255987	35255987	C	T	ITSN1	c.4676+12C>T	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35255987C>T	(Likely) benign	1 lab	84512dde24
17:7125469 ACADVL C>T	17	7125469	7125469	C	T	ACADVL	c.753-27C>T	NM_000018.4	NP_000009.1:p.?	NC_000017.10:g.7125469C>T	(Likely) benign	1 lab	8453ecdb92
2:71816830 DYSF C>T	2	71816830	71816830	C	T	DYSF	c.3493+14C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71816830C>T	(Likely) benign	1 lab	8455ebe0c1
6:32810147 PSMB8 G>T	6	32810147	32810147	G	T	PSMB8	c.408-107C>A	NM_148919.4	NP_683720.2:p.?	NC_000006.11:g.32810147G>T	(Likely) benign	1 lab	845e95a523
5:158743788 IL12B C>A	5	158743788	158743788	C	A	IL12B	c.892G>T	NM_002187.2	NP_002178.2:p.(Val298Phe)	NC_000005.9:g.158743788C>A	(Likely) benign	1 lab	8462e50c96
11:111959601 SDHD G>A	11	111959601	111959601	G	A	SDHD	c.180G>A	NM_003002.4	NP_002993.1:p.(Lys60=)	NC_000011.9:g.111959601G>A	VUS	1 lab	84b8a4c6d0
16:67691890 ACD C>T	16	67691890	67691890	C	T	ACD	c.1205G>A	NM_001082486.2	NP_001075955.2:p.(Trp402Ter)	NC_000016.9:g.67691890C>T	(Likely) pathogenic	1 lab	8463c6bdd1
2:179431319 TTN CA>C	2	179431319	179431320	CA	C	TTN	c.79539del	NM_001267550.2	NP_001254479.2:p.(Tyr26513Ter)	NC_000002.11:g.179431320del	(Likely) pathogenic	1 lab	8464eb3130
9:77391002 TRPM6 G>T	9	77391002	77391002	G	T	TRPM6	c.3210-10C>A	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77391002G>T	(Likely) benign	1 lab	8468c94964
5:90281045 ADGRV1 A>G	5	90281045	90281045	A	G	ADGRV1	c.17974-116A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90281045A>G	(Likely) benign	1 lab	846b533978
8:74893653 TMEM70 G>A	8	74893653	74893653	G	A	TMEM70	c.580G>A	NM_017866.6	NP_060336.3:p.(Val194Met)	NC_000008.10:g.74893653G>A	(Likely) benign	1 lab	84809e97cc
1:237777598 RYR2 G>A	1	237777598	237777598	G	A	RYR2	c.5170G>A	NM_001035.3	NP_001026.2:p.(Glu1724Lys)	NC_000001.10:g.237777598G>A	(Likely) pathogenic	1 lab	8480b82dd7
X:73740828 SLC16A2 G>A	X	73740828	73740828	G	A	SLC16A2	c.434G>A	NM_006517.5	NP_006508.2:p.(Trp145Ter)	NC_000023.10:g.73740828G>A	(Likely) pathogenic	1 lab	84840c89e7
19:50826781 KCNC3 C>T	19	50826781	50826781	C	T	KCNC3	c.1429G>A	NM_004977.3	NP_004968.2:p.(Asp477Asn)	NC_000019.9:g.50826781C>T	VUS	1 lab	84885ebe85
16:5127433 ALG1 T>C	16	5127433	5127433	T	C	ALG1	c.540-13T>C	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5127433T>C	(Likely) benign	1 lab	84894c0487
12:103238121 PAH T>TCTGA	12	103238121	103238123	T	TCTGA	PAH	c.1057_1058insTCAG	NM_000277.3	NP_000268.1:p.(Glu353ValfsTer42)	NC_000012.11:g.103238122_103238123insTGAC	(Likely) pathogenic	1 lab	848a427980
17:45008390 GOSR2 A>T	17	45008390	45008390	A	T	GOSR2	c.95-75A>T	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45008390A>T	(Likely) benign	1 lab	848c96e6fc
6:112508764 LAMA4 C>T	6	112508764	112508764	C	T	LAMA4	c.854G>A	NM_001105206.3	NP_001098676.2:p.(Arg285Gln)	NC_000006.11:g.112508764C>T	VUS	1 lab	848ec6fc9b
15:63893639 FBXL22 C>T	15	63893639	63893639	C	T	FBXL22	c.498C>T	NM_203373.3	NP_976307.2:p.(Ala166=)	NC_000015.9:g.63893639C>T	(Likely) benign	1 lab	8495099f7a
12:15713218 PTPRO A>AT	12	15713218	15713227	A	AT	PTPRO	c.2711+17dup	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15713227dup	(Likely) benign	1 lab	8496890f95
4:5746917 EVC TTC>T	4	5746917	5746920	TTC	T	EVC	c.802-12_802-11del	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5746919_5746920del	(Likely) benign	1 lab	8499eea906
13:32918941 BRCA2 A>G	13	32918941	32918941	A	G	BRCA2	c.6937+151A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918941A>G	(Likely) benign	1 lab	849a28f43f
9:140128965 SLC34A3 G>A	9	140128965	140128965	G	A	SLC34A3	c.1191G>A	NM_080877.2	NP_543153.1:p.(Ala397=)	NC_000009.11:g.140128965G>A	(Likely) benign	1 lab	849d26bb20
16:3299802 MEFV A>C	16	3299802	3299802	A	C	MEFV	c.911-22T>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299802A>C	(Likely) benign	1 lab	849fb8bbec
19:55445776 NLRP7 G>GC	19	55445776	55445777	G	GC	NLRP7	c.2471+80dup	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55445777dup	(Likely) benign	1 lab	84a50f3490
1:1147325 TNFRSF4 C>T	1	1147325	1147325	C	T	TNFRSF4	c.631G>A	NM_003327.4	NP_003318.1:p.(Gly211Arg)	NC_000001.10:g.1147325C>T	(Likely) benign	1 lab	84a64fa1f9
1:155264051 PKLR C>T	1	155264051	155264051	C	T	PKLR	c.1091G>A	NM_000298.6	NP_000289.1:p.(Gly364Asp)	NC_000001.10:g.155264051C>T	(Likely) pathogenic	1 lab	84a6d36fec
6:32943690 BRD2 G>C	6	32943690	32943690	G	C	BRD2	c.472-118G>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943690G>C	(Likely) benign	1 lab	84a9e11891
4:79240030 FRAS1 C>T	4	79240030	79240030	C	T	FRAS1	c.2027C>T	NM_025074.7	NP_079350.5:p.(Pro676Leu)	NC_000004.11:g.79240030C>T	VUS	1 lab	d290907cad
11:67763290 UNC93B1 G>A	11	67763290	67763290	G	A	UNC93B1	c.1155C>T	NM_030930.2	NP_112192.2:p.(Gly385=)	NC_000011.9:g.67763290G>A	(Likely) benign	1 lab	84b25fa3f8
3:38598763 SCN5A C>G	3	38598763	38598763	C	G	SCN5A	c.4258G>C	NM_198056.2	NP_932173.1:p.(Gly1420Arg)	NC_000003.11:g.38598763C>G	(Likely) pathogenic	1 lab	84b93f70d8
9:5122995 JAK2 T>C	9	5122995	5122995	T	C	JAK2	c.3060-9T>C	NM_001322194.1	NP_001309123.1:p.?	NC_000009.11:g.5122995T>C	(Likely) benign	1 lab	84bc8bf7e7
6:107533210 PDSS2 G>C	6	107533210	107533210	G	C	PDSS2	c.876+103C>G	NM_020381.4	NP_065114.3:p.?	NC_000006.11:g.107533210G>C	(Likely) benign	1 lab	84bf47758a
10:104156016 NFKB2 G>A	10	104156016	104156016	G	A	NFKB2	c.28G>A	NM_001077494.3	NP_001070962.1:p.(Asp10Asn)	NC_000010.10:g.104156016G>A	VUS	1 lab	d29327e66e
9:139412222 NOTCH1 G>T	9	139412222	139412222	G	T	NOTCH1	c.1423C>A	NM_017617.5	NP_060087.3:p.(Gln475Lys)	NC_000009.11:g.139412222G>T	VUS	1 lab	84c4088a46
3:64145759 PRICKLE2 T>C	3	64145759	64145759	T	C	PRICKLE2	c.259-6A>G	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64145759T>C	(Likely) benign	1 lab	84d9ac6b98
9:97869536 FANCC C>T	9	97869536	97869536	C	T	FANCC	c.1345G>A	NM_000136.2	NP_000127.2:p.(Val449Met)	NC_000009.11:g.97869536C>T	(Likely) benign	1 lab	84dc813378
5:52361685 ITGA2 C>T	5	52361685	52361685	C	T	ITGA2	c.1821C>T	NM_002203.4	NP_002194.2:p.(Ser607=)	NC_000005.9:g.52361685C>T	(Likely) benign	1 lab	84dfba71c2
2:241661233 KIF1A G>A	2	241661233	241661233	G	A	KIF1A	c.4734C>T	NM_001244008.1	NP_001230937.1:p.(Ser1578=)	NC_000002.11:g.241661233G>A	(Likely) benign	1 lab	84e0bcf915
9:6553420 GLDC G>A	9	6553420	6553420	G	A	GLDC	c.2405C>T	NM_000170.2	NP_000161.2:p.(Ala802Val)	NC_000009.11:g.6553420G>A	(Likely) pathogenic	1 lab	84e28b34c2
2:166187773 SCN2A T>C	2	166187773	166187773	T	C	SCN2A	c.2150-67T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166187773T>C	(Likely) benign	1 lab	84edc5df43
X:62857992 ARHGEF9 C>T	X	62857992	62857992	C	T	ARHGEF9	c.1467G>A	NM_015185.3	NP_056000.1:p.(Ser489=)	NC_000023.10:g.62857992C>T	(Likely) benign	1 lab	84fb530813
14:23889183 MYH7 G>A	14	23889183	23889183	G	A	MYH7	c.3597C>T	NM_000257.4	NP_000248.2:p.(Ser1199=)	NC_000014.8:g.23889183G>A	(Likely) benign	1 lab	d297184d21
1:11106666 MASP2 T>C	1	11106666	11106666	T	C	MASP2	c.359A>G	NM_006610.4	NP_006601.2:p.(Asp120Gly)	NC_000001.10:g.11106666T>C	(Likely) benign	1 lab	84ff7ad013
15:73615149 HCN4 C>T	15	73615149	73615149	C	T	HCN4	c.3285G>A	NM_005477.3	NP_005468.1:p.(Gln1095=)	NC_000015.9:g.73615149C>T	(Likely) benign	1 lab	850016e665
2:152827881 CACNB4 G>T	2	152827881	152827881	G	T	CACNB4	c.45+2302C>A	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152827881G>T	(Likely) benign	1 lab	8501745129
18:28651696 DSC2 G>T	18	28651696	28651696	G	T	DSC2	c.2000C>A	NM_004949.3	NP_004940.1:p.(Thr667Lys)	NC_000018.9:g.28651696G>T	VUS	1 lab	850822299c
5:90021540 ADGRV1 A>G	5	90021540	90021540	A	G	ADGRV1	c.10161+67A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021540A>G	(Likely) benign	1 lab	8508a8165f
14:103420596 CDC42BPB G>A	14	103420596	103420596	G	A	CDC42BPB	c.3005C>T	NM_006035.4	NP_006026.3:p.(Pro1002Leu)	NC_000014.8:g.103420596G>A	(Likely) benign	1 lab	d29a6d1826
7:128486900 FLNC T>A	7	128486900	128486900	T	A	FLNC	c.4229T>A	NM_001458.4	NP_001449.3:p.(Ile1410Asn)	NC_000007.13:g.128486900T>A	VUS	1 lab	850ae98d15
2:227953665 COL4A4 G>A	2	227953665	227953665	G	A	COL4A4	c.1460-133C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227953665G>A	(Likely) benign	1 lab	850e26c868
20:44755376 CD40 G>C	20	44755376	44755376	G	C	CD40	c.559+36G>C	NM_001250.4	NP_001241.1:p.?	NC_000020.10:g.44755376G>C	(Likely) benign	1 lab	8510424427
3:53212543 PRKCD G>A	3	53212543	53212543	G	A	PRKCD	c.105G>A	NM_006254.4	NP_006245.2:p.(Ala35=)	NC_000003.11:g.53212543G>A	(Likely) benign	1 lab	8512cd1846
5:176831301 F12 G>A	5	176831301	176831301	G	A	F12	c.914C>T	NM_000505.3	NP_000496.2:p.(Thr305Ile)	NC_000005.9:g.176831301G>A	(Likely) benign	1 lab	8513beb94d
10:14976682 DCLRE1C G>T	10	14976682	14976682	G	T	DCLRE1C	c.537+20C>A	NM_001033855.1	NP_001029027.1:p.?	NC_000010.10:g.14976682G>T	(Likely) benign	1 lab	8517772766
2:227895329 COL4A4 G>A	2	227895329	227895329	G	A	COL4A4	c.3818-15C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227895329G>A	(Likely) benign	1 lab	8517e1bcb9
3:152554156 P2RY1 C>A	3	152554156	152554156	C	A	P2RY1	c.585C>A	NM_002563.5	NP_002554.1:p.(Arg195=)	NC_000003.11:g.152554156C>A	(Likely) benign	1 lab	851cb1c1b5
6:52101806 IL17F CAG>C	6	52101806	52101810	CAG	C	IL17F	c.413_414del	NM_052872.4	NP_443104.1:p.(Ser138CysfsTer34)	NC_000006.11:g.52101809_52101810del	VUS	1 lab	852620a021
19:13397566 CACNA1A C>T	19	13397566	13397566	C	T	CACNA1A	c.3316G>A	NM_023035.3	NP_075461.2:p.(Asp1106Asn)	NC_000019.9:g.13397566C>T	(Likely) benign	1 lab	85288c0d82
12:110012642 MVK CCTACTGGTGTCTGCTCCGG>C	12	110012642	110012661	CCTACTGGTGTCTGCTCCGG	C	MVK	c.16_34del	NM_000431.4	NP_000422.1:p.(Leu6GlyfsTer16)	NC_000012.11:g.110012643_110012661del	(Likely) pathogenic	1 lab	8529b062d7
4:79385034 FRAS1 G>A	4	79385034	79385034	G	A	FRAS1	c.6764-141G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79385034G>A	(Likely) benign	1 lab	852e9f5ca1
4:983684 SLC26A1 A>G	4	983684	983684	A	G	SLC26A1	c.1043T>C	NM_213613.4	NP_998778.1:p.(Leu348Pro)	NC_000004.11:g.983684A>G	(Likely) benign	1 lab	852f3e13c3
3:197677108 RPL35A G>C	3	197677108	197677108	G	C	RPL35A	c.-33+16G>C	NM_000996.4	NP_000987.2:p.?	NC_000003.11:g.197677108G>C	(Likely) benign	1 lab	85321cfb0c
5:131007487 FNIP1 A>G	5	131007487	131007487	A	G	FNIP1	c.2650T>C	NM_133372.3	NP_588613.3:p.(Phe884Leu)	NC_000005.9:g.131007487A>G	(Likely) benign	1 lab	8532cb5a67
2:24477313 ITSN2 T>TAAAC	2	24477313	24477340	T	TAAAC	ITSN2	c.2889-17_2889-14dup	NM_147152.3	NP_671494.2:p.?	NC_000002.11:g.24477337_24477340dup	(Likely) benign	1 lab	8532dc8c06
4:77089557 SCARB2 C>T	4	77089557	77089557	C	T	SCARB2	c.1186G>A	NM_005506.4	NP_005497.1:p.(Val396Ile)	NC_000004.11:g.77089557C>T	(Likely) benign	1 lab	85360eb738
9:449768 DOCK8 T>C	9	449768	449768	T	C	DOCK8	c.5818-16T>C	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.449768T>C	(Likely) benign	1 lab	853789d53e
15:93488926 CHD2 AT>A	15	93488926	93488938	AT	A	CHD2	c.1154-113del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93488938del	(Likely) benign	1 lab	8538b0757f
6:51735306 PKHD1 T>A	6	51735306	51735306	T	A	PKHD1	c.7482A>T	NM_138694.4	NP_619639.3:p.(Gly2494=)	NC_000006.11:g.51735306T>A	(Likely) benign	1 lab	85392894af
X:133609282 HPRT1 A>G	X	133609282	133609282	A	G	HPRT1	c.206A>G	NM_000194.3	NP_000185.1:p.(Lys69Arg)	NC_000023.10:g.133609282A>G	VUS	1 lab	853ffd90ce
16:3306599 MEFV G>C	16	3306599	3306599	G	C	MEFV	c.-12C>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3306599G>C	VUS	1 lab	854391d5d7
5:1278888 TERT G>A	5	1278888	1278888	G	A	TERT	c.2154C>T	NM_198253.2	NP_937983.2:p.(Asp718=)	NC_000005.9:g.1278888G>A	(Likely) benign	1 lab	85440e054d
14:105180975 INF2 G>A	14	105180975	105180975	G	A	INF2	c.3476G>A	NM_022489.3	NP_071934.3:p.(Arg1159His)	NC_000014.8:g.105180975G>A	(Likely) benign	1 lab	8547e740ba
22:45683248 UPK3A G>A	22	45683248	45683248	G	A	UPK3A	c.404G>A	NM_006953.4	NP_008884.1:p.(Arg135Lys)	NC_000022.10:g.45683248G>A	(Likely) benign	1 lab	854b07806d
1:16374412 CLCNKB C>T	1	16374412	16374412	C	T	CLCNKB	c.371C>T	NM_000085.4	NP_000076.2:p.(Pro124Leu)	NC_000001.10:g.16374412C>T	(Likely) pathogenic	1 lab	854b18124e
9:37784804 EXOSC3 C>A	9	37784804	37784804	C	A	EXOSC3	c.238G>T	NM_016042.4	NP_057126.2:p.(Val80Phe)	NC_000009.11:g.37784804C>A	(Likely) pathogenic	1 lab	854b2e67ec
11:47786926 FNBP4 AAAAAGAAAAG>A	11	47786926	47786970	AAAAAGAAAAG	A	FNBP4	c.221-22_221-13del	NM_015308.5	NP_056123.2:p.?	NC_000011.9:g.47786961_47786970del	(Likely) benign	1 lab	854e7922e5
17:42336581 SLC4A1 T>C	17	42336581	42336581	T	C	SLC4A1	c.826A>G	NM_000342.4	NP_000333.1:p.(Ile276Val)	NC_000017.10:g.42336581T>C	(Likely) benign	1 lab	854f323e2c
4:187584684 FAT1 C>T	4	187584684	187584684	C	T	FAT1	c.3349G>A	NM_005245.4	NP_005236.2:p.(Val1117Met)	NC_000004.11:g.187584684C>T	(Likely) benign	1 lab	8553e45f87
1:53676258 CPT2 G>T	1	53676258	53676258	G	T	CPT2	c.912G>T	NM_000098.3	NP_000089.1:p.(Gln304His)	NC_000001.10:g.53676258G>T	VUS	1 lab	8555e463f3
X:154132298 F8 A>G	X	154132298	154132298	A	G	F8	c.5881T>C	NM_000132.3	NP_000123.1:p.(Trp1961Arg)	NC_000023.10:g.154132298A>G	(Likely) pathogenic	1 lab	8556dcbf2d
14:64898328 MTHFD1 A>G	14	64898328	64898328	A	G	MTHFD1	c.1390A>G	NM_005956.4	NP_005947.3:p.(Ile464Val)	NC_000014.8:g.64898328A>G	(Likely) benign	1 lab	85573c4b80
14:23249140 SLC7A7 C>T	14	23249140	23249140	C	T	SLC7A7	c.620G>A	NM_001126106.2	NP_001119578.1:p.(Gly207Asp)	NC_000014.8:g.23249140C>T	(Likely) benign	1 lab	8557581c43
1:198717218 PTPRC G>GTT	1	198717218	198717234	G	GTT	PTPRC	c.2848-5_2848-4dup	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198717233_198717234dup	(Likely) benign	1 lab	8559e214c9
4:79238496 FRAS1 G>A	4	79238496	79238496	G	A	FRAS1	c.1820-26G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79238496G>A	(Likely) benign	1 lab	855e36680e
1:237872278 RYR2 A>G	1	237872278	237872278	A	G	RYR2	c.10022A>G	NM_001035.3	NP_001026.2:p.(Lys3341Arg)	NC_000001.10:g.237872278A>G	(Likely) benign	1 lab	8561185441
12:53448114 TNS2 G>A	12	53448114	53448114	G	A	TNS2	c.441G>A	NM_015319.2	NP_056134.2:p.(Thr147=)	NC_000012.11:g.53448114G>A	(Likely) benign	1 lab	856529dd07
8:65537104 CYP7B1 G>A	8	65537104	65537104	G	A	CYP7B1	c.123-8C>T	NM_004820.5	NP_004811.1:p.?	NC_000008.10:g.65537104G>A	(Likely) benign	1 lab	8565d48f0c
1:43409199 SLC2A1 A>G	1	43409199	43409199	A	G	SLC2A1	c.19-207T>C	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43409199A>G	(Likely) benign	1 lab	85677a5750
5:95761545 PCSK1 C>T	5	95761545	95761545	C	T	PCSK1	c.375G>A	NM_000439.5	NP_000430.3:p.(Met125Ile)	NC_000005.9:g.95761545C>T	(Likely) pathogenic	1 lab	8567871f5c
3:189590824 TP63 G>C	3	189590824	189590824	G	C	TP63	c.1349+40G>C	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189590824G>C	(Likely) benign	1 lab	856e275765
18:10773600 PIEZO2 C>T	18	10773600	10773600	C	T	PIEZO2	c.2520G>A	NM_022068.3	NP_071351.2:p.(Pro840=)	NC_000018.9:g.10773600C>T	(Likely) benign	1 lab	856fae5d90
12:66838406 GRIP1 T>C	12	66838406	66838406	T	C	GRIP1	c.1489A>G	NM_021150.4	NP_066973.2:p.(Ile497Val)	NC_000012.11:g.66838406T>C	(Likely) benign	1 lab	85704eec9b
16:27709797 KATNIP C>T	16	27709797	27709797	C	T	KATNIP	c.1089C>T	NM_015202.3	NP_056017.3:p.(Ala363=)	NC_000016.9:g.27709797C>T	(Likely) benign	1 lab	8570e9af74
19:13341058 CACNA1A G>A	19	13341058	13341058	G	A	CACNA1A	c.5419-35C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13341058G>A	(Likely) benign	1 lab	8573140556
7:2951925 CARD11 C>T	7	2951925	2951925	C	T	CARD11	c.3025G>A	NM_032415.6	NP_115791.3:p.(Val1009Ile)	NC_000007.13:g.2951925C>T	(Likely) benign	1 lab	8574ef40c5
9:77435142 TRPM6 A>T	9	77435142	77435142	A	T	TRPM6	c.1134+78T>A	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77435142A>T	(Likely) benign	1 lab	85776dd9fd
19:41198210 COQ8B A>G	19	41198210	41198210	A	G	COQ8B	c.1365T>C	NM_024876.4	NP_079152.3:p.(Tyr455=)	NC_000019.9:g.41198210A>G	(Likely) benign	1 lab	857cc3aa54
16:8895682 PMM2 C>T	16	8895682	8895682	C	T	PMM2	c.93C>T	NM_000303.3	NP_000294.1:p.(Phe31=)	NC_000016.9:g.8895682C>T	(Likely) benign	1 lab	857f67f0ed
19:1632083 TCF3 C>T	19	1632083	1632083	C	T	TCF3	c.252G>A	NM_003200.5	NP_003191.1:p.(Ser84=)	NC_000019.9:g.1632083C>T	(Likely) benign	1 lab	857f72e189
16:49671955 ZNF423 C>T	16	49671955	49671955	C	T	ZNF423	c.1108G>A	NM_015069.4	NP_055884.2:p.(Ala370Thr)	NC_000016.9:g.49671955C>T	(Likely) benign	1 lab	8588731c2c
X:99663083 PCDH19 G>A	X	99663083	99663083	G	A	PCDH19	c.513C>T	NM_001184880.2	NP_001171809.1:p.(Asn171=)	NC_000023.10:g.99663083G>A	(Likely) benign	1 lab	858f69936e
8:41547660 ANK1 G>A	8	41547660	41547660	G	A	ANK1	c.4227+85C>T	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41547660G>A	(Likely) benign	1 lab	85931623a0
11:8161564 RIC3 G>A	11	8161564	8161564	G	A	RIC3	c.301C>T	NM_001206671.4	NP_001193600.1:p.(Pro101Ser)	NC_000011.9:g.8161564G>A	(Likely) benign	1 lab	8598a1c419
12:53040457 KRT2 C>T	12	53040457	53040457	C	T	KRT2	c.1469+67G>A	NM_000423.3	NP_000414.2:p.?	NC_000012.11:g.53040457C>T	(Likely) benign	1 lab	85a2237c45
4:126336405 FAT4 A>G	4	126336405	126336405	A	G	FAT4	c.6287A>G	NM_024582.6	NP_078858.4:p.(Lys2096Arg)	NC_000004.11:g.126336405A>G	VUS	1 lab	d2a33c1427
4:79462311 FRAS1 T>A	4	79462311	79462311	T	A	FRAS1	c.*33T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79462311T>A	(Likely) benign	1 lab	85ec2b34bc
16:3293277 MEFV C>T	16	3293277	3293277	C	T	MEFV	c.2210G>A	NM_000243.2	NP_000234.1:p.(Arg737Lys)	NC_000016.9:g.3293277C>T	VUS	1 lab	85ae9e06cc
8:133184678 KCNQ3 C>G	8	133184678	133184678	C	G	KCNQ3	c.1140+167G>C	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133184678C>G	(Likely) benign	1 lab	85b40bab21
7:91875208 KRIT1 C>A	7	91875208	91875208	C	A	KRIT1	c.-590+12G>T	NM_194456.1	NP_919438.1:p.?	NC_000007.13:g.91875208C>A	(Likely) benign	1 lab	85c274edf5
7:91671404 AKAP9 G>C	7	91671404	91671404	G	C	AKAP9	c.4962G>C	NM_005751.4	NP_005742.4:p.(Arg1654Ser)	NC_000007.13:g.91671404G>C	VUS	1 lab	85c364ffc4
8:6590160 AGPAT5 G>A	8	6590160	6590160	G	A	AGPAT5	c.484G>A	NM_018361.5	NP_060831.2:p.(Ala162Thr)	NC_000008.10:g.6590160G>A	(Likely) benign	1 lab	85c6105195
17:26732928 MISSING G>C	17	26732928	26732928	G	C	MISSING				NC_000017.10:g.26732928G>C	(Likely) benign	1 lab	85ca4a88ad
5:137213248 MYOT G>C	5	137213248	137213248	G	C	MYOT	c.571G>C	NM_006790.2	NP_006781.1:p.(Gly191Arg)	NC_000005.9:g.137213248G>C	(Likely) benign	1 lab	85cd317238
21:45707457 AIRE G>A	21	45707457	45707457	G	A	AIRE				NC_000021.8:g.45707457G>A	(Likely) benign	1 lab	8e1551f5e5
10:17126389 CUBN A>G	10	17126389	17126389	A	G	CUBN	c.2182T>C	NM_001081.3	NP_001072.2:p.(Phe728Leu)	NC_000010.10:g.17126389A>G	(Likely) benign	1 lab	85d3a677da
4:88979091 PKD2 C>T	4	88979091	88979091	C	T	PKD2	c.1899-44C>T	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88979091C>T	(Likely) benign	1 lab	85d60c9116
5:256624 SDHA G>A	5	256624	256624	G	A	SDHA	c.*89G>A	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.256624G>A	(Likely) benign	1 lab	85da883c2b
11:36596200 RAG1 G>A	11	36596200	36596200	G	A	RAG1	c.1346G>A	NM_000448.2	NP_000439.1:p.(Arg449Lys)	NC_000011.9:g.36596200G>A	(Likely) benign	1 lab	8603282ee1
19:39219050 ACTN4 G>GCTCCTCCTC	19	39219050	39219090	G	GCTCCTCCTC	ACTN4	c.2418+416_2418+424dup	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39219082_39219090dup	(Likely) benign	1 lab	85dd38f4a4
12:110034323 MVK T>C	12	110034323	110034323	T	C	MVK	c.1132T>C	NM_000431.2	NP_000422.1:p.(Ser378Pro)	NC_000012.11:g.110034323T>C	(Likely) pathogenic	1 lab	85e2dd990d
16:1268419 CACNA1H G>A	16	1268419	1268419	G	A	CACNA1H	c.5655G>A	NM_021098.3	NP_066921.2:p.(Ala1885=)	NC_000016.9:g.1268419G>A	(Likely) benign	1 lab	85e51a424a
1:156105104 LMNA G>A	1	156105104	156105104	G	A	LMNA				NC_000001.10:g.156105104G>A	(Likely) pathogenic	1 lab	85e7e00d39
1:39854319 MACF1 G>A	1	39854319	39854319	G	A	MACF1	c.9619G>A	NM_012090.5	NP_036222.3:p.(Ala3207Thr)	NC_000001.10:g.39854319G>A	VUS	1 lab	d2a6964a5a
2:179473647 TTN G>C	2	179473647	179473647	G	C	TTN	c.25283-12C>G	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179473647G>C	(Likely) benign	1 lab	85ef92b470
5:136972963 KLHL3 G>A	5	136972963	136972963	G	A	KLHL3	c.1321+20C>T	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.136972963G>A	(Likely) benign	1 lab	85f1e39cea
9:94871074 SPTLC1 C>A	9	94871074	94871074	C	A	SPTLC1	c.208G>T	NM_006415.2	NP_006406.1:p.(Val70Phe)	NC_000009.11:g.94871074C>A	(Likely) benign	1 lab	85f34cc190
9:138670677 KCNT1 A>G	9	138670677	138670677	A	G	KCNT1	c.2729+9A>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138670677A>G	(Likely) benign	1 lab	85f6b691de
10:71582196 COL13A1 T>TA	10	71582196	71582198	T	TA	COL13A1	c.364+4dup	NM_001130103.2	NP_001123575.1:p.?	NC_000010.10:g.71582198dup	(Likely) benign	1 lab	85f9c74f00
1:214832311 CENPF C>T	1	214832311	214832311	C	T	CENPF	c.9081C>T	NM_016343.4	NP_057427.3:p.(Leu3027=)	NC_000001.10:g.214832311C>T	(Likely) benign	1 lab	860193aa80
1:53676265 CPT2 A>C	1	53676265	53676265	A	C	CPT2	c.919A>C	NM_000098.3	NP_000089.1:p.(Met307Leu)	NC_000001.10:g.53676265A>C	(Likely) benign	1 lab	86056dbdbf
1:10714014 CASZ1 C>T	1	10714014	10714014	C	T	CASZ1	c.2100G>A	NM_001079843.3	NP_001073312.1:p.(Ser700=)	NC_000001.10:g.10714014C>T	VUS	1 lab	d2a8bcf86c
8:11400741 BLK T>C	8	11400741	11400741	T	C	BLK	c.8T>C	NM_001715.3	NP_001706.2:p.(Leu3Pro)	NC_000008.10:g.11400741T>C	VUS	1 lab	861c347066
1:22178171 HSPG2 G>A	1	22178171	22178171	G	A	HSPG2	c.7026C>T	NM_005529.6	NP_005520.4:p.(Pro2342=)	NC_000001.10:g.22178171G>A	(Likely) benign	1 lab	861db3f965
1:196710998 CFH A>G	1	196710998	196710998	A	G	CFH	c.2957-7A>G	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196710998A>G	(Likely) benign	1 lab	86212f7255
2:166856273 SCN1A C>T	2	166856273	166856273	C	T	SCN1A	c.4298G>A	NM_001165963.3	NP_001159435.1:p.(Gly1433Glu)	NC_000002.11:g.166856273C>T	(Likely) pathogenic	1 lab	862472557f
16:1268604 CACNA1H C>T	16	1268604	1268604	C	T	CACNA1H	c.5840C>T	NM_021098.3	NP_066921.2:p.(Pro1947Leu)	NC_000016.9:g.1268604C>T	(Likely) benign	1 lab	8624729394
1:1149479 TNFRSF4 C>A	1	1149479	1149479	C	A	TNFRSF4	c.29G>T	NM_003327.4	NP_003318.1:p.(Arg10Leu)	NC_000001.10:g.1149479C>A	(Likely) benign	1 lab	86261a9271
10:75391745 MYOZ1 A>G	10	75391745	75391745	A	G	MYOZ1	c.843T>C	NM_021245.4	NP_067068.1:p.(Pro281=)	NC_000010.10:g.75391745A>G	(Likely) benign	1 lab	8628302559
17:18150086 FLII T>G	17	18150086	18150086	T	G	FLII	c.2840A>C	NM_001256264.2	NP_001243193.1:p.(Lys947Thr)	NC_000017.10:g.18150086T>G	(Likely) benign	1 lab	862dbf5401
16:2140954 PKD1 G>A	16	2140954	2140954	G	A	PKD1	c.11934C>T	NM_001009944.2	NP_001009944.2:p.(Asp3978=)	NC_000016.9:g.2140954G>A	(Likely) benign	1 lab	86311e5ec9
14:64447691 SYNE2 G>T	14	64447691	64447691	G	T	SYNE2	c.1649-13G>T	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64447691G>T	(Likely) benign	1 lab	8634a9154a
12:110028587 MVK T>C	12	110028587	110028587	T	C	MVK	c.689T>C	NM_000431.2	NP_000422.1:p.(Leu230Pro)	NC_000012.11:g.110028587T>C	VUS	1 lab	86354324ff
3:39228738 XIRP1 C>G	3	39228738	39228738	C	G	XIRP1	c.2199G>C	NM_194293.4	NP_919269.2:p.(Glu733Asp)	NC_000003.11:g.39228738C>G	VUS	1 lab	863a1381e8
1:237551470 RYR2 G>A	1	237551470	237551470	G	A	RYR2	c.760G>A	NM_001035.3	NP_001026.2:p.(Glu254Lys)	NC_000001.10:g.237551470G>A	VUS	1 lab	863bc7ee8f
16:2141004 PKD1 G>A	16	2141004	2141004	G	A	PKD1	c.11884C>T	NM_001009944.2	NP_001009944.2:p.(Gln3962Ter)	NC_000016.9:g.2141004G>A	(Likely) pathogenic	1 lab	863c53a4b4
8:133492567 KCNQ3 G>A	8	133492567	133492567	G	A	KCNQ3	c.213C>T	NM_004519.4	NP_004510.1:p.(Gly71=)	NC_000008.10:g.133492567G>A	(Likely) benign	1 lab	863f7e457d
11:67810978 TCIRG1 G>A	11	67810978	67810978	G	A	TCIRG1				NC_000011.9:g.67810978G>A	(Likely) benign	1 lab	864811cb42
13:73573048 PIBF1 A>C	13	73573048	73573048	A	C	PIBF1	c.2138A>C	NM_006346.3	NP_006337.2:p.(His713Pro)	NC_000013.10:g.73573048A>C	(Likely) benign	1 lab	86490307c7
9:130616633 ENG A>C	9	130616633	130616633	A	C	ENG	c.2T>G	NM_000118.3	NP_000109.1:p.(Met1?)	NC_000009.11:g.130616633A>C	(Likely) pathogenic	1 lab	864be757a0
11:68685359 IGHMBP2 G>T	11	68685359	68685359	G	T	IGHMBP2	c.1060+8G>T	NM_002180.2	NP_002171.2:p.?	NC_000011.9:g.68685359G>T	(Likely) benign	1 lab	864e425e7a
5:1294467 TERT G>A	5	1294467	1294467	G	A	TERT	c.534C>T	NM_198253.2	NP_937983.2:p.(Leu178=)	NC_000005.9:g.1294467G>A	(Likely) benign	1 lab	86508c57d5
9:138678021 KCNT1 T>C	9	138678021	138678021	T	C	KCNT1	c.3178-22T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138678021T>C	(Likely) benign	1 lab	8651d0429a
10:21102870 NEBL T>C	10	21102870	21102870	T	C	NEBL	c.2344A>G	NM_006393.2	NP_006384.1:p.(Met782Val)	NC_000010.10:g.21102870T>C	VUS	1 lab	8652d5da89
X:41401976 CASK T>C	X	41401976	41401976	T	C	CASK	c.2123A>G	NM_003688.3	NP_003679.2:p.(Tyr708Cys)	NC_000023.10:g.41401976T>C	VUS	1 lab	d2ab8c5091
5:90016686 ADGRV1 A>T	5	90016686	90016686	A	T	ADGRV1	c.9624-66A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90016686A>T	(Likely) benign	1 lab	86547b5686
16:223691 HBA2 A>G	16	223691	223691	A	G	HBA2	c.*92A>G	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223691A>G	(Likely) pathogenic	1 lab	86576a30ed
10:97111112 SORBS1 G>A	10	97111112	97111112	G	A	SORBS1				NC_000010.10:g.97111112G>A	(Likely) pathogenic	1 lab	8661855297
X:119589233 LAMP2 ATGT>A	X	119589233	119589239	ATGT	A	LAMP2	c.373_375del	NM_002294.3	NP_002285.1:p.(Thr125del)	NC_000023.10:g.119589237_119589239del	VUS	1 lab	8664de3f83
16:1255173 CACNA1H C>T	16	1255173	1255173	C	T	CACNA1H	c.2511C>T	NM_021098.3	NP_066921.2:p.(Ala837=)	NC_000016.9:g.1255173C>T	(Likely) benign	1 lab	866943db7d
16:2549440 TBC1D24 GCCAGGGCTGGCTCTGATGGGCT>G	16	2549440	2549506	GCCAGGGCTGGCTCTGATGGGCT	G	TBC1D24	c.1206+64_1206+85del	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2549485_2549506del	(Likely) benign	1 lab	866d465fbe
6:97339088 NDUFAF4 C>T	6	97339088	97339088	C	T	NDUFAF4	c.420G>A	NM_014165.4	NP_054884.1:p.(Gln140=)	NC_000006.11:g.97339088C>T	(Likely) benign	1 lab	d2b646575f
19:18186696 IL12RB1 G>A	19	18186696	18186696	G	A	IL12RB1	c.581-18C>T	NM_005535.1	NP_005526.1:p.?	NC_000019.9:g.18186696G>A	(Likely) benign	1 lab	867a7eb759
9:138678121 KCNT1 G>A	9	138678121	138678121	G	A	KCNT1	c.3256G>A	NM_020822.2	NP_065873.2:p.(Gly1086Arg)	NC_000009.11:g.138678121G>A	(Likely) benign	1 lab	867f63abf7
9:130587637 ENG C>G	9	130587637	130587637	C	G	ENG	c.690-1G>C	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130587637C>G	(Likely) pathogenic	1 lab	86849978fb
16:3294524 MEFV G>A	16	3294524	3294524	G	A	MEFV	c.1675C>T	NM_000243.2	NP_000234.1:p.(Leu559Phe)	NC_000016.9:g.3294524G>A	VUS	1 lab	8685ce0e8c
20:31024464 ASXL1 C>A	20	31024464	31024464	C	A	ASXL1	c.3949C>A	NM_015338.6	NP_056153.2:p.(Pro1317Thr)	NC_000020.10:g.31024464C>A	VUS	1 lab	d2b8d69437
6:32815864 TAP1 C>A	6	32815864	32815864	C	A	TAP1	c.1752G>T	NM_000593.5	NP_000584.2:p.(Leu584=)	NC_000006.11:g.32815864C>A	(Likely) benign	1 lab	86878a6358
13:39357316 FREM2 C>CT	13	39357316	39357317	C	CT	FREM2	c.5752dup	NM_207361.6	NP_997244.4:p.(Cys1918LeufsTer21)	NC_000013.10:g.39357317dup	(Likely) pathogenic	1 lab	868c1d93e2
8:41573266 ANK1 G>A	8	41573266	41573266	G	A	ANK1	c.1506C>T	NM_000037.4	NP_000028.3:p.(Ala502=)	NC_000008.10:g.41573266G>A	(Likely) benign	1 lab	868daa4062
20:31376656 DNMT3B C>G	20	31376656	31376656	C	G	DNMT3B	c.655-4C>G	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31376656C>G	(Likely) benign	1 lab	868eb726eb
16:2156458 PKD1 C>T	16	2156458	2156458	C	T	PKD1	c.7430G>A	NM_001009944.2	NP_001009944.2:p.(Arg2477His)	NC_000016.9:g.2156458C>T	(Likely) benign	1 lab	868fd397fc
7:156802336 MNX1 G>T	7	156802336	156802336	G	T	MNX1	c.691+18C>A	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156802336G>T	VUS	1 lab	8693ec289c
4:78979273 FRAS1 TGC>T	4	78979273	78979276	TGC	T	FRAS1	c.76+36_76+37del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979275_78979276del	(Likely) benign	1 lab	8695d46f23
1:237961484 RYR2 C>T	1	237961484	237961484	C	T	RYR2	c.14090+14C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237961484C>T	(Likely) benign	1 lab	8697696432
5:14293213 TRIO G>A	5	14293213	14293213	G	A	TRIO	c.1146G>A	NM_007118.4	NP_009049.2:p.(Thr382=)	NC_000005.9:g.14293213G>A	(Likely) benign	1 lab	869b012fb3
9:130592108 ENG T>C	9	130592108	130592108	T	C	ENG	c.220-2A>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130592108T>C	(Likely) pathogenic	1 lab	869f472a2d
16:3297183 MEFV C>T	16	3297183	3297183	C	T	MEFV	c.1420G>A	NM_000243.2	NP_000234.1:p.(Glu474Lys)	NC_000016.9:g.3297183C>T	VUS	1 lab	86a36cb3dd
17:78165095 CARD14 C>T	17	78165095	78165095	C	T	CARD14	c.1090-27C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78165095C>T	(Likely) benign	1 lab	86a4204b98
17:8133247 CTC1 A>G	17	8133247	8133247	A	G	CTC1	c.2973T>C	NM_025099.6	NP_079375.3:p.(Tyr991=)	NC_000017.10:g.8133247A>G	(Likely) benign	1 lab	86aec32d03
2:227661756 IRS1 G>A	2	227661756	227661756	G	A	IRS1	c.1699C>T	NM_005544.2	NP_005535.1:p.(Arg567Ter)	NC_000002.11:g.227661756G>A	(Likely) pathogenic	1 lab	86b08a018f
16:2161442 PKD1 C>T	16	2161442	2161442	C	T	PKD1	c.3726G>A	NM_001009944.2	NP_001009944.2:p.(Thr1242=)	NC_000016.9:g.2161442C>T	(Likely) benign	1 lab	86b0afddb6
12:974355 WNK1 T>C	12	974355	974355	T	C	WNK1	c.2219T>C	NM_213655.4	NP_998820.3:p.(Leu740Pro)	NC_000012.11:g.974355T>C	(Likely) benign	1 lab	86b1d04b84
19:6820808 VAV1 C>T	19	6820808	6820808	C	T	VAV1	c.300C>T	NM_005428.4	NP_005419.2:p.(Phe100=)	NC_000019.9:g.6820808C>T	(Likely) benign	1 lab	d2b8fb6338
11:65319767 LTBP3 C>T	11	65319767	65319767	C	T	LTBP3	c.1297G>A	NM_001130144.2	NP_001123616.1:p.(Gly433Ser)	NC_000011.9:g.65319767C>T	VUS	1 lab	86b33024e1
3:52485868 TNNC1 C>T	3	52485868	52485868	C	T	TNNC1	c.209G>A	NM_003280.2	NP_003271.1:p.(Gly70Asp)	NC_000003.11:g.52485868C>T	VUS	1 lab	86b607ef67
1:158656146 SPTA1 TTAAAAG>T	1	158656146	158656157	TTAAAAG	T	SPTA1	c.24+132_24+137del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158656152_158656157del	(Likely) benign	1 lab	86b97614ad
15:31200310 FAN1 C>T	15	31200310	31200310	C	T	FAN1	c.1235-11C>T	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31200310C>T	(Likely) benign	1 lab	86b9940337
6:56515772 DST A>G	6	56515772	56515772	A	G	DST	c.1287T>C	NM_001144769.5	NP_001138241.1:p.(Tyr429=)	NC_000006.11:g.56515772A>G	(Likely) benign	1 lab	86bc013512
17:78179566 CARD14 C>T	17	78179566	78179566	C	T	CARD14	c.2691+115C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78179566C>T	(Likely) benign	1 lab	86c68bd582
14:58954674 KIAA0586 C>T	14	58954674	58954674	C	T	KIAA0586	c.3533C>T	NM_001244189.2	NP_001231118.1:p.(Ala1178Val)	NC_000014.8:g.58954674C>T	(Likely) benign	1 lab	86c98877f4
6:32942277 BRD2 G>A	6	32942277	32942277	G	A	BRD2	c.68G>A	NM_001199455.1	NP_001186384.1:p.(Gly23Asp)	NC_000006.11:g.32942277G>A	(Likely) benign	1 lab	86ca0f2ecc
8:68430107 CPA6 G>A	8	68430107	68430107	G	A	CPA6	c.317+51C>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68430107G>A	(Likely) benign	1 lab	86ca241304
11:62287107 AHNAK G>C	11	62287107	62287107	G	C	AHNAK	c.14782C>G	NM_001620.3	NP_001611.1:p.(Pro4928Ala)	NC_000011.9:g.62287107G>C	VUS	1 lab	d2be7686a0
12:98927674 TMPO G>C	12	98927674	98927674	G	C	TMPO	c.1639G>C	NM_003276.2	NP_003267.1:p.(Ala547Pro)	NC_000012.11:g.98927674G>C	VUS	1 lab	86cce7a0bf
5:127647135 FBN2 G>C	5	127647135	127647135	G	C	FBN2	c.4949-18C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127647135G>C	(Likely) benign	1 lab	86cf725914
1:6012895 NPHP4 G>A	1	6012895	6012895	G	A	NPHP4	c.675C>T	NM_015102.5	NP_055917.1:p.(Gly225=)	NC_000001.10:g.6012895G>A	(Likely) benign	1 lab	86d1b8d75e
11:61549081 MYRF T>G	11	61549081	61549081	T	G	MYRF	c.2801T>G	NM_001127392.3	NP_001120864.1:p.(Ile934Ser)	NC_000011.9:g.61549081T>G	VUS	1 lab	d2c23442d9
12:56082785 ITGA7 C>G	12	56082785	56082785	C	G	ITGA7	c.2845-44G>C	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56082785C>G	(Likely) benign	1 lab	86d820447e
22:36661409 APOL1 A>G	22	36661409	36661409	A	G	APOL1	c.575A>G	NM_145343.2	NP_663318.1:p.(Asn192Ser)	NC_000022.10:g.36661409A>G	(Likely) benign	1 lab	86daa5e303
15:30927771 ARHGAP11B G>C	15	30927771	30927771	G	C	ARHGAP11B	c.742G>C	NM_001039841.2	NP_001034930.1:p.(Ala248Pro)	NC_000015.9:g.30927771G>C	(Likely) benign	1 lab	86ddd935eb
6:32946833 BRD2 TG>T	6	32946833	32946834	TG	T	BRD2	c.1841+669del	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32946834del	(Likely) benign	1 lab	86df36adf6
9:130420742 STXBP1 A>G	9	130420742	130420742	A	G	STXBP1	c.246+12A>G	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130420742A>G	(Likely) benign	1 lab	86dfe5b83b
8:126062856 WASHC5 G>A	8	126062856	126062856	G	A	WASHC5	c.2149C>T	NM_014846.4	NP_055661.3:p.(Arg717Cys)	NC_000008.10:g.126062856G>A	VUS	1 lab	86e42c4191
5:77536773 AP3B1 C>T	5	77536773	77536773	C	T	AP3B1	c.205-13G>A	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77536773C>T	(Likely) benign	1 lab	86e4d89c07
17:62028991 SCN4A C>T	17	62028991	62028991	C	T	SCN4A	c.2646G>A	NM_000334.4	NP_000325.4:p.(Pro882=)	NC_000017.10:g.62028991C>T	(Likely) benign	1 lab	86e7df5824
1:237813217 RYR2 G>A	1	237813217	237813217	G	A	RYR2	c.7553G>A	NM_001035.3	NP_001026.2:p.(Arg2518Gln)	NC_000001.10:g.237813217G>A	VUS	1 lab	86e935cd0f
2:166802215 TTC21B T>C	2	166802215	166802215	T	C	TTC21B	c.263-15A>G	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166802215T>C	(Likely) benign	1 lab	86e964e91f
16:28898611 ATP2A1 C>G	16	28898611	28898611	C	G	ATP2A1	c.630+16C>G	NM_173201.4	NP_775293.1:p.?	NC_000016.9:g.28898611C>G	(Likely) benign	1 lab	86ec19c035
11:32451997 WT1 G>GGGGAGAGAGA	11	32451997	32451999	G	GGGGAGAGAGA	WT1	c.647-1833_647-1832insTCTCTCTCCC	NM_024426.3	NP_077744.3:p.?	NC_000011.9:g.32451998_32451999insGGAGAGAGAG	(Likely) benign	1 lab	86f3d0b217
2:179403672 TTN C>G	2	179403672	179403672	C	G	TTN	c.72169+1G>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179403672C>G	(Likely) pathogenic	1 lab	86f468c871
18:48581216 SMAD4 A>G	18	48581216	48581216	A	G	SMAD4	c.520A>G	NM_005359.5	NP_005350.1:p.(Thr174Ala)	NC_000018.9:g.48581216A>G	(Likely) benign	1 lab	86f6e08b50
16:3304575 MEFV C>T	16	3304575	3304575	C	T	MEFV	c.493G>A	NM_000243.2	NP_000234.1:p.(Ala165Thr)	NC_000016.9:g.3304575C>T	(Likely) benign	1 lab	86fa939bee
5:118500981 DMXL1 TAA>T	5	118500981	118500999	TAA	T	DMXL1	c.4970+23_4970+24del	NM_001290321.3	NP_001277250.1:p.?	NC_000005.9:g.118500998_118500999del	(Likely) benign	1 lab	86fd2cf3e5
21:47413929 COL6A1 G>T	21	47413929	47413929	G	T	COL6A1	c.1336-152G>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47413929G>T	(Likely) benign	1 lab	87011719cd
1:9781485 PIK3CD G>A	1	9781485	9781485	G	A	PIK3CD	c.1812-17G>A	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9781485G>A	(Likely) benign	1 lab	8704d046a1
1:158655079 SPTA1 C>T	1	158655079	158655079	C	T	SPTA1	c.83G>A	NM_003126.3	NP_003117.2:p.(Arg28His)	NC_000001.10:g.158655079C>T	(Likely) pathogenic	1 lab	8706e29eed
6:47522408 CD2AP C>T	6	47522408	47522408	C	T	CD2AP	c.447C>T	NM_012120.3	NP_036252.1:p.(Thr149=)	NC_000006.11:g.47522408C>T	(Likely) benign	1 lab	870a73bac9
19:4817266 TICAM1 T>G	19	4817266	4817266	T	G	TICAM1	c.1124A>C	NM_182919.3	NP_891549.1:p.(His375Pro)	NC_000019.9:g.4817266T>G	(Likely) benign	1 lab	870eb0da90
16:14334526 MRTFB C>T	16	14334526	14334526	C	T	MRTFB	c.1079+185C>T	NM_014048.4	NP_054767.3:p.?	NC_000016.9:g.14334526C>T	(Likely) benign	1 lab	d2c6069872
12:21995375 ABCC9 G>C	12	21995375	21995375	G	C	ABCC9	c.3346C>G	NM_020297.2	NP_064693.2:p.(Arg1116Gly)	NC_000012.11:g.21995375G>C	(Likely) pathogenic	1 lab	8717d805fb
16:27761188 KATNIP C>T	16	27761188	27761188	C	T	KATNIP	c.2907C>T	NM_015202.3	NP_056017.3:p.(Pro969=)	NC_000016.9:g.27761188C>T	(Likely) benign	1 lab	871cc70035
18:28671040 DSC2 C>G	18	28671040	28671040	C	G	DSC2	c.425G>C	NM_004949.3	NP_004940.1:p.(Cys142Ser)	NC_000018.9:g.28671040C>G	(Likely) benign	1 lab	871e1a4acb
4:106859480 NPNT A>T	4	106859480	106859480	A	T	NPNT	c.498A>T	NM_001184691.2	NP_001171620.1:p.(Ala166=)	NC_000004.11:g.106859480A>T	(Likely) benign	1 lab	8723548220
17:41234304 BRCA1 C>T	17	41234304	41234304	C	T	BRCA1	c.4357+117G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41234304C>T	(Likely) benign	1 lab	872fdc621d
7:116556097 CAPZA2 G>GT	7	116556097	116556110	G	GT	CAPZA2	c.658-4dup	NM_006136.3	NP_006127.1:p.?	NC_000007.13:g.116556110dup	(Likely) benign	1 lab	8730d1f5b5
1:40562648 PPT1 C>T	1	40562648	40562648	C	T	PPT1	c.124+139G>A	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40562648C>T	(Likely) benign	1 lab	873893fb27
3:128200643 GATA2 C>G	3	128200643	128200643	C	G	GATA2	c.1143+19G>C	NM_001145661.2	NP_001139133.1:p.?	NC_000003.11:g.128200643C>G	(Likely) benign	1 lab	d2c904d29e
19:50162920 IRF3 G>A	19	50162920	50162920	G	A	IRF3	c.1269C>T	NM_001571.6	NP_001562.1:p.(Gly423=)	NC_000019.9:g.50162920G>A	(Likely) benign	1 lab	873d546776
4:79343111 FRAS1 G>A	4	79343111	79343111	G	A	FRAS1	c.4635G>A	NM_025074.7	NP_079350.5:p.(Pro1545=)	NC_000004.11:g.79343111G>A	(Likely) benign	1 lab	873e902514
6:144507910 STX11 G>A	6	144507910	144507910	G	A	STX11	c.146G>A	NM_003764.3	NP_003755.2:p.(Arg49Gln)	NC_000006.11:g.144507910G>A	(Likely) benign	1 lab	873f084265
2:108622812 SLC5A7 TTA>T	2	108622812	108622818	TTA	T	SLC5A7	c.895+159_895+160del	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108622817_108622818del	(Likely) benign	1 lab	87460b95ca
2:190925077 MSTN T>C	2	190925077	190925077	T	C	MSTN	c.458A>G	NM_005259.2	NP_005250.1:p.(Lys153Arg)	NC_000002.11:g.190925077T>C	(Likely) benign	1 lab	8746bbbaa4
16:9984710 GRIN2A A>G	16	9984710	9984710	A	G	GRIN2A	c.1122+133T>C	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9984710A>G	(Likely) benign	1 lab	8746bc107f
16:81942003 PLCG2 C>T	16	81942003	81942003	C	T	PLCG2	c.1558-18C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81942003C>T	(Likely) benign	1 lab	8746f642dc
12:66909431 GRIP1 G>A	12	66909431	66909431	G	A	GRIP1	c.692C>T	NM_021150.4	NP_066973.2:p.(Ala231Val)	NC_000012.11:g.66909431G>A	(Likely) benign	1 lab	8749777773
8:17868799 PCM1 T>C	8	17868799	17868799	T	C	PCM1	c.5274T>C	NM_006197.4	NP_006188.4:p.(Asp1758=)	NC_000008.10:g.17868799T>C	(Likely) benign	1 lab	875347bb09
1:114450613 DCLRE1B A>G	1	114450613	114450613	A	G	DCLRE1B	c.356-18A>G	NM_022836.4	NP_073747.1:p.?	NC_000001.10:g.114450613A>G	(Likely) benign	1 lab	8754fca865
15:93547996 CHD2 C>T	15	93547996	93547996	C	T	CHD2	c.4413+15C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93547996C>T	(Likely) benign	1 lab	87558eaef7
1:113653074 LRIG2 G>C	1	113653074	113653074	G	C	LRIG2	c.1688G>C	NM_014813.2	NP_055628.1:p.(Ser563Thr)	NC_000001.10:g.113653074G>C	(Likely) benign	1 lab	8755a860cf
17:7604873 WRAP53 G>A	17	7604873	7604873	G	A	WRAP53	c.822+6G>A	NM_018081.2	NP_060551.2:p.?	NC_000017.10:g.7604873G>A	(Likely) benign	1 lab	87560e7f15
9:139418394 NOTCH1 G>A	9	139418394	139418394	G	A	NOTCH1	c.178C>T	NM_017617.5	NP_060087.3:p.(Pro60Ser)	NC_000009.11:g.139418394G>A	VUS	1 lab	8756b158f7
X:110644170 DCX T>C	X	110644170	110644170	T	C	DCX	c.948+48A>G	NM_000555.3	NP_000546.2:p.?	NC_000023.10:g.110644170T>C	(Likely) benign	1 lab	875f4817fe
17:73732141 ITGB4 G>A	17	73732141	73732141	G	A	ITGB4	c.1667G>A	NM_000213.5	NP_000204.3:p.(Arg556His)	NC_000017.10:g.73732141G>A	(Likely) benign	1 lab	8765849bbf
10:79397311 KCNMA1 G>A	10	79397311	79397311	G	A	KCNMA1	c.90C>T	NM_001014797.3	NP_001014797.1:p.(His30=)	NC_000010.10:g.79397311G>A	(Likely) benign	1 lab	8766feb313
18:19029465 GREB1L A>G	18	19029465	19029465	A	G	GREB1L	c.1394-6A>G	NM_001142966.2	NP_001136438.1:p.?	NC_000018.9:g.19029465A>G	(Likely) benign	1 lab	876731124f
20:10394591 MKKS T>TA	20	10394591	10394599	T	TA	MKKS	c.-417-13dup	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10394599dup	(Likely) benign	1 lab	87691de26c
15:63362102 TPM1 G>A	15	63362102	63362102	G	A	TPM1	c.698G>A	NM_001330351.2	NP_001317280.1:p.(Arg233His)	NC_000015.9:g.63362102G>A	(Likely) benign	1 lab	876c42c34e
3:48508253 TREX1 C>T	3	48508253	48508253	C	T	TREX1	c.199C>T	NM_033629.6	NP_338599.1:p.(Leu67Phe)	NC_000003.11:g.48508253C>T	VUS	1 lab	d2cb1e5364
4:79403146 FRAS1 A>T	4	79403146	79403146	A	T	FRAS1	c.8604+28A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79403146A>T	(Likely) benign	1 lab	87737e8798
4:46307598 GABRA2 A>G	4	46307598	46307598	A	G	GABRA2	c.690T>C	NM_001114175.3	NP_001107647.1:p.(Ile230=)	NC_000004.11:g.46307598A>G	(Likely) benign	1 lab	87753068ba
16:81962190 PLCG2 C>T	16	81962190	81962190	C	T	PLCG2	c.2542C>T	NM_002661.3	NP_002652.2:p.(Leu848Phe)	NC_000016.9:g.81962190C>T	(Likely) benign	1 lab	877a85a463
2:167163372 SCN9A T>C	2	167163372	167163372	T	C	SCN9A	c.377+94A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167163372T>C	(Likely) benign	1 lab	877b0e035c
6:152690715 SYNE1 C>T	6	152690715	152690715	C	T	SYNE1	c.9542G>A	NM_182961.4	NP_892006.3:p.(Ser3181Asn)	NC_000006.11:g.152690715C>T	(Likely) benign	1 lab	877b29c9bc
4:79188160 FRAS1 C>T	4	79188160	79188160	C	T	FRAS1	c.789+71C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79188160C>T	(Likely) benign	1 lab	877fe04dd2
6:52343750 EFHC1 A>C	6	52343750	52343750	A	C	EFHC1	c.1279-85A>C	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52343750A>C	(Likely) benign	1 lab	878045bd2c
19:42474466 ATP1A3 C>T	19	42474466	42474466	C	T	ATP1A3	c.2419-6G>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42474466C>T	(Likely) benign	1 lab	87849a160c
8:100887925 VPS13B G>GTGAT	8	100887925	100887930	G	GTGAT	VPS13B	c.*33_*36dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100887927_100887930dup	(Likely) benign	1 lab	8786f81caa
10:12154913 DHTKD1 G>A	10	12154913	12154913	G	A	DHTKD1	c.2169G>A	NM_018706.7	NP_061176.4:p.(Ala723=)	NC_000010.10:g.12154913G>A	(Likely) benign	1 lab	878d87cd3a
8:106801153 ZFPM2 G>GT	8	106801153	106801154	G	GT	ZFPM2	c.739+2dup	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106801154dup	VUS	1 lab	8790b4fe82
11:101342931 TRPC6 C>A	11	101342931	101342931	C	A	TRPC6	c.2142G>T	NM_004621.6	NP_004612.2:p.(Thr714=)	NC_000011.9:g.101342931C>A	(Likely) benign	1 lab	8790d18c29
2:179411528 TTN TG>T	2	179411528	179411529	TG	T	TTN	c.94626del	NM_001267550.2	NP_001254479.2:p.(Ile31543Ter)	NC_000002.11:g.179411529del	(Likely) pathogenic	1 lab	8791cd44ec
1:156100562 LMNA A>G	1	156100562	156100562	A	G	LMNA				NC_000001.10:g.156100562A>G	VUS	1 lab	8796646058
10:115405703 NRAP G>GAA	10	115405703	115405713	G	GAA	NRAP	c.994-5_994-4dup	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115405712_115405713dup	(Likely) benign	1 lab	8798f4f198
22:37322102 CSF2RB G>A	22	37322102	37322102	G	A	CSF2RB	c.274G>A	NM_000395.3	NP_000386.1:p.(Val92Met)	NC_000022.10:g.37322102G>A	VUS	1 lab	d2cd3192a8
19:15654831 CYP4F22 A>T	19	15654831	15654831	A	T	CYP4F22	c.989A>T	NM_173483.4	NP_775754.2:p.(Asp330Val)	NC_000019.9:g.15654831A>T	VUS	1 lab	d2db0cb426
3:30713820 TGFBR2 G>A	3	30713820	30713820	G	A	TGFBR2	c.1220G>A	NM_001024847.2	NP_001020018.1:p.(Ser407Asn)	NC_000003.11:g.30713820G>A	(Likely) pathogenic	1 lab	879c2734f4
12:6442545 TNFRSF1A C>T	12	6442545	6442545	C	T	TNFRSF1A	c.460G>A	NM_001065.3	NP_001056.1:p.(Val154Met)	NC_000012.11:g.6442545C>T	(Likely) benign	1 lab	879f2cb329
17:73827266 UNC13D G>A	17	73827266	73827266	G	A	UNC13D	c.2554-16C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73827266G>A	(Likely) benign	1 lab	87a00ed76a
1:161600956 FCGR3B A>G	1	161600956	161600956	A	G	FCGR3B	c.-72T>C	NM_001244753.2	NP_001231682.2:p.?	NC_000001.10:g.161600956A>G	(Likely) benign	1 lab	87a24a613f
8:17794626 PCM1 C>T	8	17794626	17794626	C	T	PCM1	c.97-17C>T	NM_006197.4	NP_006188.4:p.?	NC_000008.10:g.17794626C>T	(Likely) benign	1 lab	87a3b338d3
11:31616472 ELP4 C>T	11	31616472	31616472	C	T	ELP4	c.513+24C>T	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31616472C>T	(Likely) benign	1 lab	890a35c292
9:139407901 NOTCH1 C>T	9	139407901	139407901	C	T	NOTCH1	c.2296G>A	NM_017617.5	NP_060087.3:p.(Gly766Ser)	NC_000009.11:g.139407901C>T	VUS	1 lab	87a714228e
19:17883486 FCHO1 C>T	19	17883486	17883486	C	T	FCHO1	c.726C>T	NM_015122.3	NP_055937.1:p.(Asn242=)	NC_000019.9:g.17883486C>T	(Likely) benign	1 lab	87c64b9789
13:73428225 PIBF1 G>A	13	73428225	73428225	G	A	PIBF1	c.1254G>A	NM_006346.3	NP_006337.2:p.(Val418=)	NC_000013.10:g.73428225G>A	(Likely) benign	1 lab	87acea99a5
5:169267868 DOCK2 A>G	5	169267868	169267868	A	G	DOCK2	c.2799+12A>G	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169267868A>G	(Likely) benign	1 lab	87b13979b4
10:115392948 NRAP C>A	10	115392948	115392948	C	A	NRAP	c.1528-1G>T	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115392948C>A	(Likely) pathogenic	1 lab	87b2ce6082
6:33406680 SYNGAP1 G>A	6	33406680	33406680	G	A	SYNGAP1	c.1660G>A	NM_006772.3	NP_006763.2:p.(Val554Met)	NC_000006.11:g.33406680G>A	(Likely) benign	1 lab	87b2e900bb
1:158608178 SPTA1 G>A	1	158608178	158608178	G	A	SPTA1	c.4981-147C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158608178G>A	(Likely) benign	1 lab	87b6ee63c2
13:32913712 BRCA2 A>C	13	32913712	32913712	A	C	BRCA2	c.5220A>C	NM_000059.4	NP_000050.3:p.(Leu1740Phe)	NC_000013.10:g.32913712A>C	(Likely) benign	1 lab	d2e134f0d0
6:135811814 AHI1 G>A	6	135811814	135811814	G	A	AHI1	c.82C>T	NM_017651.4	NP_060121.3:p.(Arg28Cys)	NC_000006.11:g.135811814G>A	(Likely) benign	1 lab	87c0e56f8e
16:2159520 PKD1 G>A	16	2159520	2159520	G	A	PKD1	c.5648C>T	NM_001009944.2	NP_001009944.2:p.(Ala1883Val)	NC_000016.9:g.2159520G>A	(Likely) benign	1 lab	87c3278efb
4:2829318 SH3BP2 C>G	4	2829318	2829318	C	G	SH3BP2	c.602-15C>G	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2829318C>G	(Likely) benign	1 lab	87c5eb0b34
1:120284469 PHGDH G>T	1	120284469	120284469	G	T	PHGDH	c.1158G>T	NM_006623.4	NP_006614.2:p.(Ala386=)	NC_000001.10:g.120284469G>T	(Likely) benign	1 lab	87c7b480fd
10:27371768 ANKRD26 A>G	10	27371768	27371768	A	G	ANKRD26	c.710-6T>C	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27371768A>G	(Likely) benign	1 lab	87c9f3253f
19:47153145 DACT3 CAA>C	19	47153145	47153161	CAA	C	DACT3	c.500-18_500-17del	NM_145056.3	NP_659493.2:p.?	NC_000019.9:g.47153160_47153161del	(Likely) benign	1 lab	87cba6d23d
12:6442938 TNFRSF1A A>G	12	6442938	6442938	A	G	TNFRSF1A	c.287T>C	NM_001065.3	NP_001056.1:p.(Leu96Pro)	NC_000012.11:g.6442938A>G	(Likely) pathogenic	1 lab	87ce922387
19:6718128 C3 G>A	19	6718128	6718128	G	A	C3	c.481C>T	NM_000064.2	NP_000055.2:p.(Arg161Trp)	NC_000019.9:g.6718128G>A	(Likely) pathogenic	1 lab	87d25a82d0
8:72211882 EYA1 A>G	8	72211882	72211882	A	G	EYA1	c.630T>C	NM_000503.5	NP_000494.2:p.(Ser210=)	NC_000008.10:g.72211882A>G	(Likely) benign	1 lab	87d2e7aeab
12:110019275 MVK C>T	12	110019275	110019275	C	T	MVK	c.447C>T	NM_000431.2	NP_000422.1:p.(Tyr149=)	NC_000012.11:g.110019275C>T	(Likely) benign	1 lab	880eed6d5f
7:147336193 CNTNAP2 CACAGAGG>C	7	147336193	147336203	CACAGAGG	C	CNTNAP2	c.1898-1_1903del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147336197_147336203del	(Likely) benign	1 lab	87d9128e46
2:71883282 DYSF T>G	2	71883282	71883282	T	G	DYSF	c.4624-10T>G	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71883282T>G	(Likely) benign	1 lab	87dc480ebb
9:139841224 C8G G>A	9	139841224	139841224	G	A	C8G	c.600G>A	NM_000606.3	NP_000597.2:p.(Val200=)	NC_000009.11:g.139841224G>A	(Likely) benign	1 lab	87dd710e6f
11:118919903 HYOU1 T>C	11	118919903	118919903	T	C	HYOU1	c.1819A>G	NM_006389.5	NP_006380.1:p.(Ser607Gly)	NC_000011.9:g.118919903T>C	(Likely) benign	1 lab	87de3f1b45
1:11199578 MTOR G>T	1	11199578	11199578	G	T	MTOR	c.4998+12C>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11199578G>T	(Likely) benign	1 lab	87e1780cd9
13:100888084 PCCA C>T	13	100888084	100888084	C	T	PCCA	c.601-12C>T	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100888084C>T	(Likely) benign	1 lab	87e6604b24
14:65252115 SPTB T>C	14	65252115	65252115	T	C	SPTB	c.3855+140A>G	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252115T>C	(Likely) benign	1 lab	87e684b627
14:45535761 TOGARAM1 T>G	14	45535761	45535761	T	G	TOGARAM1	c.4560-20T>G	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45535761T>G	(Likely) benign	1 lab	87eedbac50
16:3706185 DNASE1 A>G	16	3706185	3706185	A	G	DNASE1	c.319A>G	NM_005223.3	NP_005214.2:p.(Arg107Gly)	NC_000016.9:g.3706185A>G	(Likely) benign	1 lab	87f2be747d
8:32617888 NRG1 C>G	8	32617888	32617888	C	G	NRG1	c.1232C>G	NM_013960.5	NP_039254.1:p.(Thr411Ser)	NC_000008.10:g.32617888C>G	(Likely) benign	1 lab	87fa5699b3
2:166858884 SCN1A T>C	2	166858884	166858884	T	C	SCN1A	c.4284+98A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166858884T>C	(Likely) benign	1 lab	8800d91e84
15:93514936 CHD2 G>T	15	93514936	93514936	G	T	CHD2	c.2190-59G>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93514936G>T	(Likely) benign	1 lab	88018f1743
13:108861351 LIG4 G>T	13	108861351	108861351	G	T	LIG4	c.2266C>A	NM_001352599.2	NP_001339528.1:p.(Arg756Ser)	NC_000013.10:g.108861351G>T	(Likely) benign	1 lab	8804ada0de
10:78669575 KCNMA1 T>C	10	78669575	78669575	T	C	KCNMA1	c.2985+149A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78669575T>C	(Likely) benign	1 lab	88081a6514
15:54025176 WDR72 T>C	15	54025176	54025176	T	C	WDR72	c.153+18A>G	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.54025176T>C	(Likely) benign	1 lab	880b9d5753
2:46583280 EPAS1 C>G	2	46583280	46583280	C	G	EPAS1	c.218-10C>G	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583280C>G	(Likely) benign	1 lab	880bd8f003
1:120279742 PHGDH G>T	1	120279742	120279742	G	T	PHGDH	c.798G>T	NM_006623.4	NP_006614.2:p.(Pro266=)	NC_000001.10:g.120279742G>T	(Likely) benign	1 lab	880cbc3f23
2:73799725 ALMS1 A>G	2	73799725	73799725	A	G	ALMS1	c.10724A>G	NM_015120.4	NP_055935.4:p.(Asn3575Ser)	NC_000002.11:g.73799725A>G	(Likely) benign	1 lab	8812cd6bfb
2:69098464 BMP10 G>A	2	69098464	69098464	G	A	BMP10	c.27C>T	NM_014482.1	NP_055297.1:p.(Cys9=)	NC_000002.11:g.69098464G>A	(Likely) benign	1 lab	8817c03fea
9:420544 DOCK8 A>G	9	420544	420544	A	G	DOCK8	c.3984A>G	NM_203447.3	NP_982272.2:p.(Leu1328=)	NC_000009.11:g.420544A>G	(Likely) benign	1 lab	8818ceb9ce
3:38751077 SCN10A G>A	3	38751077	38751077	G	A	SCN10A	c.4173C>T	NM_006514.3	NP_006505.3:p.(Asn1391=)	NC_000003.11:g.38751077G>A	(Likely) benign	1 lab	881bae4c6e
1:11860455 MTHFR C>T	1	11860455	11860455	C	T	MTHFR	c.476-76G>A	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11860455C>T	(Likely) benign	1 lab	881d531439
4:2826472 SH3BP2 G>T	4	2826472	2826472	G	T	SH3BP2	c.441+15G>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2826472G>T	(Likely) benign	1 lab	8821c42527
2:25467080 DNMT3A C>A	2	25467080	25467080	C	A	DNMT3A	c.1795G>T	NM_175629.2	NP_783328.1:p.(Glu599Ter)	NC_000002.11:g.25467080C>A	(Likely) pathogenic	1 lab	882ba1f655
2:228157944 COL4A3 G>A	2	228157944	228157944	G	A	COL4A3	c.3248G>A	NM_000091.4	NP_000082.2:p.(Gly1083Glu)	NC_000002.11:g.228157944G>A	(Likely) pathogenic	1 lab	882c4a8998
9:711623 KANK1 T>A	9	711623	711623	T	A	KANK1	c.857T>A	NM_015158.4	NP_055973.2:p.(Val286Glu)	NC_000009.11:g.711623T>A	(Likely) benign	1 lab	8a11761eb7
1:151378252 POGZ G>A	1	151378252	151378252	G	A	POGZ	c.3259C>T	NM_015100.4	NP_055915.2:p.(Arg1087Ter)	NC_000001.10:g.151378252G>A	(Likely) pathogenic	1 lab	882ddea818
7:2582974 BRAT1 G>T	7	2582974	2582974	G	T	BRAT1	c.804-17C>A	NM_001350626.2	NP_001337555.1:p.?	NC_000007.13:g.2582974G>T	(Likely) benign	1 lab	882eed1115
5:176821013 SLC34A1 GCTCCACCCC>G	5	176821013	176821024	GCTCCACCCC	G	SLC34A1	c.1007-13_1007-5del	NM_003052.5	NP_003043.3:p.?	NC_000005.9:g.176821016_176821024del	VUS	1 lab	882f8b54e3
13:39452235 FREM2 T>C	13	39452235	39452235	T	C	FREM2	c.8672-36T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452235T>C	(Likely) benign	1 lab	885bf03861
20:42249489 IFT52 T>TA	20	42249489	42249491	T	TA	IFT52	c.172-6dup	NM_001323578.2	NP_001310507.1:p.?	NC_000020.10:g.42249491dup	(Likely) benign	1 lab	88337a9294
X:56591479 UBQLN2 C>T	X	56591479	56591479	C	T	UBQLN2	c.1173C>T	NM_013444.3	NP_038472.2:p.(Tyr391=)	NC_000023.10:g.56591479C>T	(Likely) benign	1 lab	8834f6d504
2:179439859 TTN C>T	2	179439859	179439859	C	T	TTN	c.44180G>A	NM_133432.3	NP_597676.3:p.(Trp14727Ter)	NC_000002.11:g.179439859C>T	(Likely) pathogenic	1 lab	8836d9b943
8:61754327 CHD7 C>T	8	61754327	61754327	C	T	CHD7				NC_000008.10:g.61754327C>T	(Likely) benign	1 lab	883ce12c4d
1:154540744 CHRNB2 CAG>C	1	154540744	154540750	CAG	C	CHRNB2	c.64+165_64+166del	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154540749_154540750del	(Likely) benign	1 lab	883fcec4ea
19:14866600 ADGRE2 G>A	19	14866600	14866600	G	A	ADGRE2	c.1282C>T	NM_013447.4	NP_038475.2:p.(Leu428Phe)	NC_000019.9:g.14866600G>A	(Likely) benign	1 lab	8842ecb346
15:93485032 CHD2 C>T	15	93485032	93485032	C	T	CHD2	c.693-20C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93485032C>T	(Likely) benign	1 lab	88489671d9
16:20360085 UMOD G>C	16	20360085	20360085	G	C	UMOD	c.538C>G	NM_003361.3	NP_003352.2:p.(Leu180Val)	NC_000016.9:g.20360085G>C	(Likely) benign	1 lab	884abe15de
14:102461209 DYNC1H1 A>G	14	102461209	102461209	A	G	DYNC1H1	c.3333+23A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102461209A>G	(Likely) benign	1 lab	884adca5f9
16:55706070 SLC6A2 G>A	16	55706070	55706070	G	A	SLC6A2	c.627G>A	NM_001043.3	NP_001034.1:p.(Pro209=)	NC_000016.9:g.55706070G>A	(Likely) benign	1 lab	8850f6deda
9:14819317 FREM1 G>A	9	14819317	14819317	G	A	FREM1	c.2461C>T	NM_144966.5	NP_659403.4:p.(Leu821=)	NC_000009.11:g.14819317G>A	VUS	1 lab	885a6d5baa
5:125890125 ALDH7A1 T>A	5	125890125	125890125	T	A	ALDH7A1	c.1094-40A>T	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125890125T>A	(Likely) benign	1 lab	885f442dc2
16:23649450 PALB2 A>C	16	23649450	23649450	A	C	PALB2	c.49T>G	NM_024675.3	NP_078951.2:p.(Leu17Val)	NC_000016.9:g.23649450A>C	VUS	1 lab	885fb80bc9
3:137881275 DBR1 T>C	3	137881275	137881275	T	C	DBR1	c.1091A>G	NM_016216.4	NP_057300.2:p.(Asn364Ser)	NC_000003.11:g.137881275T>C	(Likely) benign	1 lab	8866d7183d
9:98729007 ERCC6L2 C>T	9	98729007	98729007	C	T	ERCC6L2				NC_000009.11:g.98729007C>T	(Likely) benign	1 lab	88694601dd
11:71906803 FOLR1 G>A	11	71906803	71906803	G	A	FOLR1	c.493+12G>A	NM_016725.3	NP_057937.1:p.?	NC_000011.9:g.71906803G>A	(Likely) benign	1 lab	887079b3a8
12:69743950 LYZ G>C	12	69743950	69743950	G	C	LYZ	c.199G>C	NM_000239.2	NP_000230.1:p.(Asp67His)	NC_000012.11:g.69743950G>C	(Likely) pathogenic	1 lab	887119bb7f
2:166847582 SCN1A T>TC	2	166847582	166847583	T	TC	SCN1A	c.*172dup	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166847583dup	(Likely) benign	1 lab	88720bf893
16:2098750 TSC2 TGAGA>T	16	2098750	2098755	TGAGA	T	TSC2	c.136_138+1del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2098752_2098755del	(Likely) pathogenic	1 lab	8872b1e9fe
5:127641495 FBN2 A>G	5	127641495	127641495	A	G	FBN2	c.5548+20T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641495A>G	(Likely) benign	1 lab	8873de603f
9:138660453 KCNT1 C>T	9	138660453	138660453	C	T	KCNT1	c.1338-3C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660453C>T	(Likely) benign	1 lab	8874267b2b
7:27285729 EVX1 G>T	7	27285729	27285729	G	T	EVX1	c.909G>T	NM_001989.5	NP_001980.1:p.(Ser303=)	NC_000007.13:g.27285729G>T	(Likely) benign	1 lab	88746bf239
17:39925887 JUP C>T	17	39925887	39925887	C	T	JUP	c.251G>A	NM_001352773.2	NP_001339702.1:p.(Arg84Gln)	NC_000017.10:g.39925887C>T	VUS	1 lab	d2e4148457
7:299843 MISSING G>A	7	299843	299843	G	A	MISSING				NC_000007.13:g.299843G>A	(Likely) benign	1 lab	8abe552128
X:154130323 F8 C>A	X	154130323	154130323	C	A	F8	c.6115+3G>T	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154130323C>A	(Likely) pathogenic	1 lab	8876213928
16:2152050 PKD1 T>C	16	2152050	2152050	T	C	PKD1	c.9397+12A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2152050T>C	(Likely) benign	1 lab	88798f415c
2:24524086 ITSN2 T>C	2	24524086	24524086	T	C	ITSN2	c.1018A>G	NM_147152.3	NP_671494.2:p.(Ile340Val)	NC_000002.11:g.24524086T>C	(Likely) benign	1 lab	887a4170cc
19:55450727 NLRP7 C>T	19	55450727	55450727	C	T	NLRP7	c.1460G>A	NM_001127255.1	NP_001120727.1:p.(Gly487Glu)	NC_000019.9:g.55450727C>T	(Likely) benign	1 lab	88803f3e45
1:78407727 NEXN G>C	1	78407727	78407727	G	C	NEXN	c.1493G>C	NM_144573.3	NP_653174.3:p.(Arg498Thr)	NC_000001.10:g.78407727G>C	VUS	1 lab	888077c6b0
1:114397636 PTPN22 A>G	1	114397636	114397636	A	G	PTPN22	c.576T>C	NM_015967.6	NP_057051.3:p.(Asn192=)	NC_000001.10:g.114397636A>G	(Likely) benign	1 lab	888442ab4b
5:94858955 SKIC3 G>A	5	94858955	94858955	G	A	SKIC3	c.1708C>T	NM_014639.3	NP_055454.1:p.(Arg570Ter)	NC_000005.9:g.94858955G>A	(Likely) pathogenic	1 lab	888648c1f0
11:5730361 TRIM22 G>A	11	5730361	5730361	G	A	TRIM22	c.980G>A	NM_006074.5	NP_006065.2:p.(Arg327His)	NC_000011.9:g.5730361G>A	(Likely) benign	1 lab	888990b1ad
18:2940693 LPIN2 G>A	18	2940693	2940693	G	A	LPIN2	c.608C>T	NM_014646.2	NP_055461.1:p.(Ser203Phe)	NC_000018.9:g.2940693G>A	(Likely) benign	1 lab	888bf2d0c6
2:228148541 COL4A3 C>T	2	228148541	228148541	C	T	COL4A3	c.2715C>T	NM_000091.4	NP_000082.2:p.(Pro905=)	NC_000002.11:g.228148541C>T	(Likely) benign	1 lab	888da773c1
9:130587545 ENG A>G	9	130587545	130587545	A	G	ENG	c.781T>C	NM_000118.3	NP_000109.1:p.(Trp261Arg)	NC_000009.11:g.130587545A>G	(Likely) pathogenic	1 lab	889752c87c
6:32936963 BRD2 T>A	6	32936963	32936963	T	A	BRD2	c.-1305+130T>A	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32936963T>A	(Likely) benign	1 lab	8897a9ce75
8:108509779 ANGPT1 A>G	8	108509779	108509779	A	G	ANGPT1	c.8T>C	NM_001146.5	NP_001137.2:p.(Val3Ala)	NC_000008.10:g.108509779A>G	(Likely) benign	1 lab	8899162598
X:18528854 CDKL5 A>G	X	18528854	18528854	A	G	CDKL5	c.65-86A>G	NM_001037343.1	NP_001032420.1:p.?	NC_000023.10:g.18528854A>G	(Likely) benign	1 lab	88a868df82
20:33523448 GSS G>A	20	33523448	33523448	G	A	GSS	c.768-3C>T	NM_000178.4	NP_000169.1:p.?	NC_000020.10:g.33523448G>A	(Likely) benign	1 lab	88a882c672
22:32215321 DEPDC5 A>G	22	32215321	32215321	A	G	DEPDC5	c.1870+110A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32215321A>G	(Likely) benign	1 lab	88ae1c0d18
1:245019207 HNRNPU T>G	1	245019207	245019207	T	G	HNRNPU	c.2166A>C	NM_031844.3	NP_114032.2:p.(Gly722=)	NC_000001.10:g.245019207T>G	(Likely) benign	1 lab	88b31cbddb
9:140058376 GRIN1 G>A	9	140058376	140058376	G	A	GRIN1	c.2589+20G>A	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140058376G>A	(Likely) benign	1 lab	88b4c2b8b2
22:19751662 TBX1 C>T	22	19751662	19751662	C	T	TBX1	c.513-16C>T	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19751662C>T	(Likely) benign	1 lab	88b4d05cb4
16:28943725 CD19 G>A	16	28943725	28943725	G	A	CD19	c.147G>A	NM_001770.5	NP_001761.3:p.(Gln49=)	NC_000016.9:g.28943725G>A	(Likely) benign	1 lab	88b87d7786
1:247588320 NLRP3 C>G	1	247588320	247588320	C	G	NLRP3	c.1569C>G	NM_001243133.2	NP_001230062.1:p.(Phe523Leu)	NC_000001.10:g.247588320C>G	(Likely) pathogenic	1 lab	88b914d096
2:113984805 PAX8 G>A	2	113984805	113984805	G	A	PAX8	c.1037C>T	NM_013952.4	NP_039246.1:p.(Pro346Leu)	NC_000002.11:g.113984805G>A	(Likely) benign	1 lab	88ba96dad0
4:126240578 FAT4 C>A	4	126240578	126240578	C	A	FAT4	c.3012C>A	NM_001291303.1	NP_001278232.1:p.(Thr1004=)	NC_000004.11:g.126240578C>A	(Likely) benign	1 lab	88bba05f38
12:6442930 TNFRSF1A A>G	12	6442930	6442930	A	G	TNFRSF1A	c.295T>C	NM_001065.3	NP_001056.1:p.(Cys99Arg)	NC_000012.11:g.6442930A>G	(Likely) pathogenic	1 lab	88bbf17ba8
8:17869261 PCM1 A>G	8	17869261	17869261	A	G	PCM1	c.5436A>G	NM_006197.4	NP_006188.4:p.(Glu1812=)	NC_000008.10:g.17869261A>G	(Likely) benign	1 lab	88bc6e86db
2:166893022 SCN1A C>G	2	166893022	166893022	C	G	SCN1A	c.2965G>C	NM_001165963.3	NP_001159435.1:p.(Ala989Pro)	NC_000002.11:g.166893022C>G	(Likely) pathogenic	1 lab	88bdc41556
1:228560447 OBSCN T>C	1	228560447	228560447	T	C	OBSCN	c.24839T>C	NM_001271223.2	NP_001258152.2:p.(Met8280Thr)	NC_000001.10:g.228560447T>C	(Likely) benign	1 lab	88c43e9775
12:49579212 TUBA1A T>C	12	49579212	49579212	T	C	TUBA1A	c.937A>G	NM_001270399.1	NP_001257328.1:p.(Met313Val)	NC_000012.11:g.49579212T>C	(Likely) pathogenic	1 lab	88c7ad566e
1:155264905 PKLR A>C	1	155264905	155264905	A	C	PKLR	c.694+2T>G	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155264905A>C	(Likely) pathogenic	1 lab	88caa525af
9:90586196 CDK20 C>CA	9	90586196	90586199	C	CA	CDK20	c.243dup	NM_001039803.2	NP_001034892.1:p.(Glu82Ter)	NC_000009.11:g.90586199dup	(Likely) pathogenic	1 lab	88cc597fa0
13:39453273 FREM2 A>G	13	39453273	39453273	A	G	FREM2	c.9006+159A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39453273A>G	(Likely) benign	1 lab	88d23fa670
4:103488139 NFKB1 T>C	4	103488139	103488139	T	C	NFKB1	c.259-5T>C	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103488139T>C	(Likely) benign	1 lab	88d750b752
9:102888877 INVS C>T	9	102888877	102888877	C	T	INVS	c.273+46C>T	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.102888877C>T	(Likely) benign	1 lab	88da9b5fb6
5:161530849 GABRG2 C>T	5	161530849	161530849	C	T	GABRG2				NC_000005.9:g.161530849C>T	(Likely) benign	1 lab	8c6d91c506
16:53686569 RPGRIP1L G>A	16	53686569	53686569	G	A	RPGRIP1L	c.2030C>T	NM_015272.5	NP_056087.2:p.(Thr677Ile)	NC_000016.9:g.53686569G>A	(Likely) benign	1 lab	88fa401a08
11:62406561 GANAB G>A	11	62406561	62406561	G	A	GANAB	c.274C>T	NM_198335.4	NP_938149.2:p.(Gln92Ter)	NC_000011.9:g.62406561G>A	(Likely) pathogenic	1 lab	88dda125d0
12:52310003 ACVRL1 G>A	12	52310003	52310003	G	A	ACVRL1	c.1232G>A	NM_000020.2	NP_000011.2:p.(Arg411Gln)	NC_000012.11:g.52310003G>A	(Likely) pathogenic	1 lab	88de2be097
14:23856839 MYH6 G>A	14	23856839	23856839	G	A	MYH6	c.4549C>T	NM_002471.3	NP_002462.2:p.(Gln1517Ter)	NC_000014.8:g.23856839G>A	(Likely) pathogenic	1 lab	88e250f0d0
18:43450727 EPG5 T>C	18	43450727	43450727	T	C	EPG5	c.6050-20A>G	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43450727T>C	(Likely) benign	1 lab	88e4f50f7b
12:110029092 MVK C>T	12	110029092	110029092	C	T	MVK	c.815C>T	NM_000431.2	NP_000422.1:p.(Ser272Phe)	NC_000012.11:g.110029092C>T	(Likely) pathogenic	1 lab	88e6789129
3:49455386 AMT T>C	3	49455386	49455386	T	C	AMT	c.898A>G	NM_000481.3	NP_000472.2:p.(Met300Val)	NC_000003.11:g.49455386T>C	(Likely) benign	1 lab	88e71fab25
16:3827627 CREBBP C>G	16	3827627	3827627	C	G	CREBBP	c.2145G>C	NM_004380.3	NP_004371.2:p.(Met715Ile)	NC_000016.9:g.3827627C>G	(Likely) benign	1 lab	88ecc89cf0
X:62875470 ARHGEF9 T>C	X	62875470	62875470	T	C	ARHGEF9	c.1204A>G	NM_015185.3	NP_056000.1:p.(Ile402Val)	NC_000023.10:g.62875470T>C	(Likely) benign	1 lab	88ee9a6653
17:33443899 RAD51D C>T	17	33443899	33443899	C	T	RAD51D	c.302G>A	NM_001142571.2	NP_001136043.1:p.(Gly101Asp)	NC_000017.10:g.33443899C>T	VUS	1 lab	88eeb3debe
16:2154523 PKD1 C>T	16	2154523	2154523	C	T	PKD1	c.8137G>A	NM_001009944.2	NP_001009944.2:p.(Gly2713Arg)	NC_000016.9:g.2154523C>T	VUS	1 lab	88f74b4035
3:52485861 TNNC1 C>T	3	52485861	52485861	C	T	TNNC1	c.216G>A	NM_003280.2	NP_003271.1:p.(Val72=)	NC_000003.11:g.52485861C>T	(Likely) benign	1 lab	88fc5a2353
1:160324078 NCSTN C>A	1	160324078	160324078	C	A	NCSTN	c.1350C>A	NM_015331.3	NP_056146.1:p.(Asn450Lys)	NC_000001.10:g.160324078C>A	VUS	1 lab	88fc674685
1:154548470 CHRNB2 T>G	1	154548470	154548470	T	G	CHRNB2	c.*62T>G	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154548470T>G	(Likely) benign	1 lab	88fe6b73b5
1:183533175 NCF2 A>C	1	183533175	183533175	A	C	NCF2	c.1001-10T>G	NM_000433.3	NP_000424.2:p.?	NC_000001.10:g.183533175A>C	(Likely) benign	1 lab	8902407c4a
14:65246227 SPTB C>A	14	65246227	65246227	C	A	SPTB	c.4473+216G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65246227C>A	(Likely) benign	1 lab	89047283f3
16:28491075 CLN3 G>A	16	28491075	28491075	G	A	CLN3	c.1057-1877C>T	NM_001042432.1	NP_001035897.1:p.?	NC_000016.9:g.28491075G>A	(Likely) benign	1 lab	89050da4b4
2:179422740 TTN C>T	2	179422740	179422740	C	T	TTN	c.87341G>A	NM_001267550.1	NP_001254479.1:p.(Arg29114Lys)	NC_000002.11:g.179422740C>T	VUS	1 lab	890514f668
2:228163471 COL4A3 C>T	2	228163471	228163471	C	T	COL4A3	c.3825C>T	NM_000091.4	NP_000082.2:p.(His1275=)	NC_000002.11:g.228163471C>T	(Likely) benign	1 lab	8905aaac49
22:50903349 SBF1 A>AG	22	50903349	50903350	A	AG	SBF1	c.1333-4dup	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50903350dup	(Likely) benign	1 lab	8906bacb3f
1:3319549 PRDM16 C>T	1	3319549	3319549	C	T	PRDM16	c.871C>T	NM_022114.4	NP_071397.3:p.(Pro291Ser)	NC_000001.10:g.3319549C>T	VUS	1 lab	8909eeae83
12:52308220 ACVRL1 C>G	12	52308220	52308220	C	G	ACVRL1	c.626-3C>G	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52308220C>G	(Likely) pathogenic	1 lab	890b8b9f13
15:43307939 UBR1 A>G	15	43307939	43307939	A	G	UBR1	c.3156T>C	NM_174916.3	NP_777576.1:p.(Tyr1052=)	NC_000015.9:g.43307939A>G	(Likely) benign	1 lab	890ccaaaf0
1:237580431 RYR2 G>C	1	237580431	237580431	G	C	RYR2	c.848+8G>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237580431G>C	(Likely) benign	1 lab	890e1ec1a6
X:154194800 F8 C>T	X	154194800	154194800	C	T	F8	c.1172G>A	NM_000132.3	NP_000123.1:p.(Arg391His)	NC_000023.10:g.154194800C>T	(Likely) pathogenic	1 lab	890e694b4e
8:145001473 PLEC C>T	8	145001473	145001473	C	T	PLEC	c.4198G>A	NM_201380.4	NP_958782.1:p.(Glu1400Lys)	NC_000008.10:g.145001473C>T	(Likely) benign	1 lab	89112d1725
1:158059381 KIRREL1 C>T	1	158059381	158059381	C	T	KIRREL1	c.834C>T	NM_001286349.1	NP_001273278.1:p.(Ile278=)	NC_000001.10:g.158059381C>T	(Likely) benign	1 lab	8911d05b77
17:73733650 ITGB4 C>T	17	73733650	73733650	C	T	ITGB4	c.2145C>T	NM_000213.5	NP_000204.3:p.(Ile715=)	NC_000017.10:g.73733650C>T	(Likely) benign	1 lab	8913e7d3c6
18:48452476 ME2 C>T	18	48452476	48452476	C	T	ME2	c.1314+208C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48452476C>T	(Likely) benign	1 lab	892430dbd9
20:390702 RBCK1 G>C	20	390702	390702	G	C	RBCK1	c.167+33G>C	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.390702G>C	(Likely) benign	1 lab	8929877268
18:19034321 GREB1L T>G	18	19034321	19034321	T	G	GREB1L	c.1985-6T>G	NM_001142966.2	NP_001136438.1:p.?	NC_000018.9:g.19034321T>G	VUS	1 lab	892c09e8e9
17:39724592 KRT9 A>G	17	39724592	39724592	A	G	KRT9	c.1216T>C	NM_000226.4	NP_000217.2:p.(Cys406Arg)	NC_000017.10:g.39724592A>G	(Likely) benign	1 lab	d2e562832b
21:36252941 RUNX1 A>G	21	36252941	36252941	A	G	RUNX1	c.340T>C	NM_001001890.3	NP_001001890.1:p.(Ser114Pro)	NC_000021.8:g.36252941A>G	VUS	1 lab	89307b403c
1:158641284 SPTA1 G>T	1	158641284	158641284	G	T	SPTA1	c.1489-41C>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158641284G>T	(Likely) benign	1 lab	8934dd1bca
9:119460557 TRIM32 C>CAAGGTAA	9	119460557	119460564	C	CAAGGTAA	TRIM32	c.542_543insAAAGGTA	NM_012210.3	NP_036342.2:p.(Tyr181Ter)	NC_000009.11:g.119460563_119460564insAAAGGTA	(Likely) pathogenic	1 lab	893b8db88a
13:73357825 PIBF1 T>C	13	73357825	73357825	T	C	PIBF1	c.218T>C	NM_006346.3	NP_006337.2:p.(Met73Thr)	NC_000013.10:g.73357825T>C	(Likely) benign	1 lab	89404ce9c9
8:61769324 CHD7 G>T	8	61769324	61769324	G	T	CHD7				NC_000008.10:g.61769324G>T	(Likely) benign	1 lab	894121e667
X:99920544 SRPX2 G>A	X	99920544	99920544	G	A	SRPX2	c.671G>A	NM_014467.2	NP_055282.1:p.(Arg224Gln)	NC_000023.10:g.99920544G>A	(Likely) benign	1 lab	89465a4c9f
5:140953648 DIAPH1 C>A	5	140953648	140953648	C	A	DIAPH1	c.1769G>T	NM_005219.5	NP_005210.3:p.(Gly590Val)	NC_000005.9:g.140953648C>A	(Likely) benign	1 lab	8946ceb34a
18:55361852 ATP8B1 T>C	18	55361852	55361852	T	C	ATP8B1	c.991A>G	NM_005603.6	NP_005594.2:p.(Thr331Ala)	NC_000018.9:g.55361852T>C	VUS	1 lab	894744df9c
8:68418984 CPA6 C>T	8	68418984	68418984	C	T	CPA6	c.636+38G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68418984C>T	(Likely) benign	1 lab	8950698938
2:216269175 FN1 C>T	2	216269175	216269175	C	T	FN1	c.3190G>A	NM_212482.2	NP_997647.1:p.(Val1064Ile)	NC_000002.11:g.216269175C>T	(Likely) benign	1 lab	895408716c
6:112476140 LAMA4 C>A	6	112476140	112476140	C	A	LAMA4	c.1969G>T	NM_001105206.3	NP_001098676.2:p.(Gly657Trp)	NC_000006.11:g.112476140C>A	VUS	1 lab	89590a0314
4:170429487 NEK1 A>G	4	170429487	170429487	A	G	NEK1	c.1750-5T>C	NM_001374418.1	NP_001361347.1:p.?	NC_000004.11:g.170429487A>G	(Likely) benign	1 lab	8968c1d5c8
M:4295 MISSING A>G	M	4295		A	G	MISSING				NC_012920.1:m.4295A>G	(Likely) benign	1 lab	896e46c6f9
9:5921696 BRD10 GAAT>G	9	5921696	5921703	GAAT	G	BRD10	c.4297_4299del	NM_001017969.3	NP_001017969.2:p.(Ile1433del)	NC_000009.11:g.5921701_5921703del	(Likely) benign	1 lab	897375b132
6:24178840 DCDC2 G>A	6	24178840	24178840	G	A	DCDC2	c.1044C>T	NM_016356.5	NP_057440.2:p.(Asp348=)	NC_000006.11:g.24178840G>A	(Likely) benign	1 lab	8974403d04
11:116706883 APOA1 C>G	11	116706883	116706883	C	G	APOA1	c.445G>C	NM_000039.1	NP_000030.1:p.(Glu149Gln)	NC_000011.9:g.116706883C>G	VUS	1 lab	8974969a43
2:110922814 NPHP1 C>G	2	110922814	110922814	C	G	NPHP1	c.625-82G>C	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110922814C>G	(Likely) benign	1 lab	897a9d5abe
4:9828242 SLC2A9 CA>C	4	9828242	9828247	CA	C	SLC2A9	c.1420-19del	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9828247del	(Likely) benign	1 lab	897f714891
14:23852522 MYH6 T>C	14	23852522	23852522	T	C	MYH6	c.5573A>G	NM_002471.3	NP_002462.2:p.(Glu1858Gly)	NC_000014.8:g.23852522T>C	VUS	1 lab	8982dc60d8
5:40972485 C7 T>A	5	40972485	40972485	T	A	C7	c.1883-20T>A	NM_000587.2	NP_000578.2:p.?	NC_000005.9:g.40972485T>A	(Likely) benign	1 lab	8985c8bb98
1:47882764 FOXE3 G>A	1	47882764	47882764	G	A	FOXE3	c.777G>A	NM_012186.3	NP_036318.1:p.(Pro259=)	NC_000001.10:g.47882764G>A	(Likely) benign	1 lab	898a415d03
20:8782884 PLCB1 G>A	20	8782884	8782884	G	A	PLCB1	c.3423+11976G>A	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8782884G>A	(Likely) benign	1 lab	898b69aa0c
2:39249914 SOS1 C>A	2	39249914	39249914	C	A	SOS1	c.1655G>T	NM_005633.3	NP_005624.2:p.(Arg552Met)	NC_000002.11:g.39249914C>A	(Likely) pathogenic	1 lab	898cb4e4be
6:108279068 SEC63 G>A	6	108279068	108279068	G	A	SEC63	c.124+22C>T	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108279068G>A	(Likely) benign	1 lab	898e70421a
12:6443012 TNFRSF1A G>T	12	6443012	6443012	G	T	TNFRSF1A	c.213C>A	NM_001065.3	NP_001056.1:p.(Asp71Glu)	NC_000012.11:g.6443012G>T	VUS	1 lab	89950bd1a3
1:22172588 HSPG2 C>G	1	22172588	22172588	C	G	HSPG2	c.8467+13G>C	NM_001291860.2	NP_001278789.1:p.?	NC_000001.10:g.22172588C>G	(Likely) benign	1 lab	8998fa3a32
17:7460105 TNFSF12 G>A	17	7460105	7460105	G	A	TNFSF12	c.384G>A	NM_003809.3	NP_003800.1:p.(Gly128=)	NC_000017.10:g.7460105G>A	(Likely) benign	1 lab	8a0f7fc6fc
5:60837725 ZSWIM6 ACTGTCAAC>A	5	60837725	60837735	ACTGTCAAC	A	ZSWIM6	c.2721_2728del	NM_020928.2	NP_065979.1:p.(Ser908LysfsTer17)	NC_000005.9:g.60837728_60837735del	(Likely) pathogenic	1 lab	899ad6a217
10:13214457 MCM10 C>T	10	13214457	13214457	C	T	MCM10	c.431C>T	NM_182751.3	NP_877428.1:p.(Pro144Leu)	NC_000010.10:g.13214457C>T	(Likely) benign	1 lab	899fb20218
1:24147022 HMGCL C>T	1	24147022	24147022	C	T	HMGCL	c.122G>A	NM_000191.3	NP_000182.2:p.(Arg41Gln)	NC_000001.10:g.24147022C>T	(Likely) pathogenic	1 lab	d2e7083bfe
2:189863433 COL3A1 C>A	2	189863433	189863433	C	A	COL3A1	c.2011C>A	NM_000090.3	NP_000081.1:p.(Pro671Thr)	NC_000002.11:g.189863433C>A	VUS	1 lab	89a3794c4e
5:169508893 DOCK2 A>T	5	169508893	169508893	A	T	DOCK2	c.5335A>T	NM_004946.3	NP_004937.1:p.(Thr1779Ser)	NC_000005.9:g.169508893A>T	(Likely) benign	1 lab	89a5c48470
2:38956730 GALM G>A	2	38956730	38956730	G	A	GALM	c.667G>A	NM_138801.3	NP_620156.1:p.(Asp223Asn)	NC_000002.11:g.38956730G>A	VUS	1 lab	d2e79c7a1d
14:58941425 KIAA0586 C>T	14	58941425	58941425	C	T	KIAA0586	c.2894C>T	NM_001244189.2	NP_001231118.1:p.(Pro965Leu)	NC_000014.8:g.58941425C>T	(Likely) benign	1 lab	89a64720da
13:32906669 BRCA2 T>C	13	32906669	32906669	T	C	BRCA2	c.1054T>C	NM_000059.3	NP_000050.2:p.(Tyr352His)	NC_000013.10:g.32906669T>C	(Likely) benign	1 lab	89ab7105f4
4:57340568 SRP72 T>C	4	57340568	57340568	T	C	SRP72	c.610+11T>C	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57340568T>C	(Likely) benign	1 lab	89aba25461
9:139407464 NOTCH1 A>C	9	139407464	139407464	A	C	NOTCH1	c.2467+9T>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407464A>C	(Likely) benign	1 lab	89ad2a5b59
5:176941974 DDX41 C>T	5	176941974	176941974	C	T	DDX41	c.741G>A	NM_016222.4	NP_057306.2:p.(Glu247=)	NC_000005.9:g.176941974C>T	(Likely) benign	1 lab	89b0f51b7d
12:54905863 NCKAP1L C>T	12	54905863	54905863	C	T	NCKAP1L	c.915C>T	NM_005337.5	NP_005328.2:p.(Thr305=)	NC_000012.11:g.54905863C>T	(Likely) benign	1 lab	89b8d82a59
7:158457244 NCAPG2 C>T	7	158457244	158457244	C	T	NCAPG2	c.1678G>A	NM_017760.7	NP_060230.5:p.(Glu560Lys)	NC_000007.13:g.158457244C>T	(Likely) benign	1 lab	89b9cfa887
19:6714452 C3 C>T	19	6714452	6714452	C	T	C3	c.510G>A	NM_000064.2	NP_000055.2:p.(Pro170=)	NC_000019.9:g.6714452C>T	(Likely) benign	1 lab	89be38e558
2:61128137 REL T>C	2	61128137	61128137	T	C	REL	c.313T>C	NM_002908.4	NP_002899.1:p.(Leu105=)	NC_000002.11:g.61128137T>C	(Likely) benign	1 lab	89c4bb75b8
6:33632996 ITPR3 CTGCAGTGGCACAGGGG>C	6	33632996	33633013	CTGCAGTGGCACAGGGG	C	ITPR3	c.1409+8_1409+23del	NM_002224.4	NP_002215.2:p.?	NC_000006.11:g.33632998_33633013del	(Likely) benign	1 lab	89c4d011fe
11:124765102 ROBO4 A>G	11	124765102	124765102	A	G	ROBO4	c.1037-13T>C	NM_019055.6	NP_061928.4:p.?	NC_000011.9:g.124765102A>G	(Likely) benign	1 lab	89c89a2b28
X:30322835 NR0B1 C>A	X	30322835	30322835	C	A	NR0B1	c.1274G>T	NM_000475.5	NP_000466.2:p.(Arg425Ile)	NC_000023.10:g.30322835C>A	VUS	1 lab	89c9722f4f
10:14939579 DCLRE1C C>T	10	14939579	14939579	C	T	DCLRE1C	n.3882G>A	NR_146960.1		NC_000010.10:g.14939579C>T	(Likely) benign	1 lab	89ce980e83
18:45375054 SMAD2 T>C	18	45375054	45375054	T	C	SMAD2	c.789A>G	NM_005901.6	NP_005892.1:p.(Leu263=)	NC_000018.9:g.45375054T>C	(Likely) benign	1 lab	89d18111d9
5:11022864 CTNND2 G>A	5	11022864	11022864	G	A	CTNND2	c.2999+17C>T	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11022864G>A	(Likely) benign	1 lab	89d94bfd95
X:32503226 DMD A>G	X	32503226	32503226	A	G	DMD	c.2623-10T>C	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32503226A>G	(Likely) benign	1 lab	89d9894050
16:88923592 TRAPPC2L G>A	16	88923592	88923592	G	A	TRAPPC2L	c.33+1G>A	NM_016209.5	NP_057293.1:p.?	NC_000016.9:g.88923592G>A	(Likely) pathogenic	1 lab	89dc13adab
6:52303291 EFHC1 C>G	6	52303291	52303291	C	G	EFHC1	c.475C>G	NM_018100.4	NP_060570.2:p.(Arg159Gly)	NC_000006.11:g.52303291C>G	(Likely) benign	1 lab	89e010f473
14:67626313 GPHN C>T	14	67626313	67626313	C	T	GPHN	c.1910+108C>T	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67626313C>T	(Likely) benign	1 lab	89e23da643
10:79396015 KCNMA1 T>C	10	79396015	79396015	T	C	KCNMA1	c.378+1008A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.79396015T>C	(Likely) benign	1 lab	89e2a9949b
15:85402795 ALPK3 A>G	15	85402795	85402795	A	G	ALPK3	c.4571+174A>G	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85402795A>G	(Likely) benign	1 lab	89e3410d80
2:166243124 SCN2A G>A	2	166243124	166243124	G	A	SCN2A	c.4552-132G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243124G>A	(Likely) benign	1 lab	89e476b6da
4:187538888 FAT1 T>C	4	187538888	187538888	T	C	FAT1	c.8852A>G	NM_005245.4	NP_005236.2:p.(Asn2951Ser)	NC_000004.11:g.187538888T>C	(Likely) benign	1 lab	89f40ce811
11:62609160 WDR74 A>AT	11	62609160	62609162	A	AT	WDR74	c.-418dup	NM_001369451.1	NP_001356380.1:p.?	NC_000011.9:g.62609162dup	(Likely) benign	1 lab	d2eb15d693
13:32920974 BRCA2 A>ATT	13	32920974	32920975	A	ATT	BRCA2	c.6948_6949insTT	NM_000059.4	NP_000050.3:p.(Asp2317LeufsTer12)	NC_000013.10:g.32920974_32920975insTT	(Likely) pathogenic	1 lab	d2ebf738a6
6:29912348 HLA-A A>G	6	29912348	29912348	A	G	HLA-A	c.967A>G	NM_002116.8	NP_002107.3:p.(Thr323Ala)	NC_000006.11:g.29912348A>G	(Likely) benign	1 lab	d2ed817227
1:40557699 PPT1 T>C	1	40557699	40557699	T	C	PPT1	c.362+18A>G	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40557699T>C	(Likely) benign	1 lab	8a0513c8cd
2:203379710 BMPR2 T>C	2	203379710	203379710	T	C	BMPR2	c.621+8T>C	NM_001204.6	NP_001195.2:p.?	NC_000002.11:g.203379710T>C	(Likely) benign	1 lab	8a0ebadf90
19:19310047 RFXANK A>G	19	19310047	19310047	A	G	RFXANK	c.712+4A>G	NM_003721.2	NP_003712.1:p.?	NC_000019.9:g.19310047A>G	(Likely) benign	1 lab	8a0f180cf5
2:109271535 LIMS1 C>T	2	109271535	109271535	C	T	LIMS1	c.5C>T	NM_001193485.3	NP_001180414.1:p.(Ala2Val)	NC_000002.11:g.109271535C>T	(Likely) benign	1 lab	8a162c7da6
19:46282604 DMPK C>T	19	46282604	46282604	C	T	DMPK	c.380G>A	NM_001081563.2	NP_001075032.1:p.(Arg127His)	NC_000019.9:g.46282604C>T	VUS	1 lab	d2efd77292
12:6442604 TNFRSF1A T>G	12	6442604	6442604	T	G	TNFRSF1A	c.401A>C	NM_001065.3	NP_001056.1:p.(His134Pro)	NC_000012.11:g.6442604T>G	VUS	1 lab	8a1b225eaa
8:100883155 VPS13B T>G	8	100883155	100883155	T	G	VPS13B	c.11570+40T>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100883155T>G	VUS	1 lab	8a27c7364a
19:10904509 DNM2 G>A	19	10904509	10904509	G	A	DNM2	c.1106G>A	NM_001005360.2	NP_001005360.1:p.(Arg369Gln)	NC_000019.9:g.10904509G>A	(Likely) pathogenic	1 lab	8a2cef23a6
20:30409554 MYLK2 A>T	20	30409554	30409554	A	T	MYLK2	c.772+14A>T	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30409554A>T	(Likely) benign	1 lab	8a3593c838
7:73471024 ELN C>T	7	73471024	73471024	C	T	ELN	c.1338C>T	NM_001278939.1	NP_001265868.1:p.(Ala446=)	NC_000007.13:g.73471024C>T	(Likely) benign	1 lab	8a36e44ee7
9:130591998 ENG G>A	9	130591998	130591998	G	A	ENG	c.328C>T	NM_000118.3	NP_000109.1:p.(Gln110Ter)	NC_000009.11:g.130591998G>A	(Likely) pathogenic	1 lab	8a3ac36398
1:237947262 RYR2 G>A	1	237947262	237947262	G	A	RYR2	c.12250G>A	NM_001035.3	NP_001026.2:p.(Val4084Ile)	NC_000001.10:g.237947262G>A	VUS	1 lab	8a3f2a5a00
12:12284910 LRP6 C>T	12	12284910	12284910	C	T	LRP6	c.3815G>A	NM_002336.3	NP_002327.2:p.(Gly1272Glu)	NC_000012.11:g.12284910C>T	VUS	1 lab	d2f62cff19
20:56138720 PCK1 C>T	20	56138720	56138720	C	T	PCK1	c.898C>T	NM_002591.4	NP_002582.3:p.(Leu300Phe)	NC_000020.10:g.56138720C>T	(Likely) benign	1 lab	8a485a66bc
10:102495496 PAX2 A>T	10	102495496	102495496	A	T	PAX2	c.25+6A>T	NM_001304569.2	NP_001291498.1:p.?	NC_000010.10:g.102495496A>T	(Likely) benign	1 lab	8a4c6963af
2:169869979 ABCB11 C>T	2	169869979	169869979	C	T	ABCB11	c.192G>A	NM_003742.4	NP_003733.2:p.(Val64=)	NC_000002.11:g.169869979C>T	(Likely) pathogenic	1 lab	8a53ea2312
16:3299032 MEFV T>C	16	3299032	3299032	T	C	MEFV	c.1261-28A>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299032T>C	(Likely) benign	1 lab	8a553ab02e
9:135777121 TSC1 A>G	9	135777121	135777121	A	G	TSC1	c.2392-35T>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135777121A>G	(Likely) benign	1 lab	8a5d7bc785
12:52307369 ACVRL1 G>T	12	52307369	52307369	G	T	ACVRL1	c.340G>T	NM_000020.2	NP_000011.2:p.(Gly114Ter)	NC_000012.11:g.52307369G>T	(Likely) pathogenic	1 lab	8a628e8fff
11:117266901 CEP164 GCTGGGGGCTGGGGC>G	11	117266901	117266929	GCTGGGGGCTGGGGC	G	CEP164	c.3216+20_3216+33del	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117266916_117266929del	(Likely) benign	1 lab	8a640759f9
3:192445251 FGF12 AT>A	3	192445251	192445270	AT	A	FGF12	c.-131+21del	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192445270del	(Likely) benign	1 lab	8a67082d62
17:78082005 GAA C>T	17	78082005	78082005	C	T	GAA	c.956-84C>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78082005C>T	(Likely) benign	1 lab	8a6cafbc50
2:179427797 TTN G>A	2	179427797	179427797	G	A	TTN	c.56242C>T	NM_133432.3	NP_597676.3:p.(Arg18748Cys)	NC_000002.11:g.179427797G>A	VUS	1 lab	8a72002b5f
2:3652616 COLEC11 G>C	2	3652616	3652616	G	C	COLEC11	c.42+556G>C	NM_199235.3	NP_954705.1:p.?	NC_000002.11:g.3652616G>C	(Likely) benign	1 lab	d2f9afd441
7:148106670 CNTNAP2 TATTC>T	7	148106670	148106677	TATTC	T	CNTNAP2	c.3796+111_3796+114del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148106674_148106677del	(Likely) benign	1 lab	8a8d64bd2c
X:135076779 SLC9A6 G>A	X	135076779	135076779	G	A	SLC9A6	c.326-166G>A	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135076779G>A	(Likely) benign	1 lab	8a8ee2e1bd
4:79458522 FRAS1 A>G	4	79458522	79458522	A	G	FRAS1	c.11298+168A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79458522A>G	(Likely) benign	1 lab	8a8f93dd31
19:45900279 PPP1R13L A>C	19	45900279	45900279	A	C	PPP1R13L	c.236T>G	NM_006663.4	NP_006654.2:p.(Phe79Cys)	NC_000019.9:g.45900279A>C	(Likely) benign	1 lab	8a95d1e288
17:17699166 RAI1 G>A	17	17699166	17699166	G	A	RAI1	c.2904G>A	NM_030665.4	NP_109590.3:p.(Ser968=)	NC_000017.10:g.17699166G>A	(Likely) benign	1 lab	8a98536ea5
2:44513241 SLC3A1 T>C	2	44513241	44513241	T	C	SLC3A1	c.836T>C	NM_000341.4	NP_000332.2:p.(Met279Thr)	NC_000002.11:g.44513241T>C	(Likely) benign	1 lab	8a9860306e
12:110013843 MVK G>T	12	110013843	110013843	G	T	MVK	c.119G>T	NM_000431.2	NP_000422.1:p.(Arg40Leu)	NC_000012.11:g.110013843G>T	VUS	1 lab	8a98c7cbc6
3:38755494 SCN10A G>A	3	38755494	38755494	G	A	SCN10A	c.3759C>T	NM_006514.3	NP_006505.3:p.(Arg1253=)	NC_000003.11:g.38755494G>A	(Likely) benign	1 lab	8a9ef1b443
11:5248331 BGLT3 A>T	11	5248331	5248331	A	T	BGLT3				NC_000011.9:g.5248331A>T	(Likely) pathogenic	1 lab	8aa034f450
5:89953625 ADGRV1 T>C	5	89953625	89953625	T	C	ADGRV1	c.4379-97T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89953625T>C	(Likely) benign	1 lab	8aa2454c49
11:22233029 ANO5 G>A	11	22233029	22233029	G	A	ANO5	c.138+169G>A	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22233029G>A	(Likely) benign	1 lab	8aa2a6208e
1:160106857 ATP1A2 G>A	1	160106857	160106857	G	A	ATP1A2				NC_000001.10:g.160106857G>A	(Likely) benign	1 lab	8aa54b83a6
19:13319837 CACNA1A G>A	19	13319837	13319837	G	A	CACNA1A	c.6545-14C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13319837G>A	(Likely) benign	1 lab	8aa84e94ba
16:1129872 SSTR5 C>T	16	1129872	1129872	C	T	SSTR5	c.1004C>T	NM_001053.4	NP_001044.1:p.(Pro335Leu)	NC_000016.9:g.1129872C>T	(Likely) benign	1 lab	d2fa6eb6a2
15:90776900 CIB1 C>T	15	90776900	90776900	C	T	CIB1	c.86+1G>A	NM_006384.4	NP_006375.2:p.?	NC_000015.9:g.90776900C>T	VUS	1 lab	8aacfa2cef
18:3215083 MYOM1 T>C	18	3215083	3215083	T	C	MYOM1	c.139A>G	NM_003803.3	NP_003794.3:p.(Ser47Gly)	NC_000018.9:g.3215083T>C	(Likely) benign	1 lab	8aadc23606
17:44109073 KANSL1 T>C	17	44109073	44109073	T	C	KANSL1	c.3091-4A>G	NM_001193466.2	NP_001180395.1:p.?	NC_000017.10:g.44109073T>C	(Likely) benign	1 lab	d2fdc0ad47
9:101518757 ANKS6 G>A	9	101518757	101518757	G	A	ANKS6	c.2271C>T	NM_173551.5	NP_775822.3:p.(Ser757=)	NC_000009.11:g.101518757G>A	(Likely) benign	1 lab	8ab2880d4b
5:90103414 ADGRV1 T>C	5	90103414	90103414	T	C	ADGRV1	c.14837-5T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90103414T>C	(Likely) benign	1 lab	8ab465a8e5
X:150572193 VMA21 T>G	X	150572193	150572193	T	G	VMA21	c.144T>G	NM_001017980.3	NP_001017980.1:p.(Thr48=)	NC_000023.10:g.150572193T>G	(Likely) benign	1 lab	8ab946417f
12:88443036 CEP290 T>C	12	88443036	88443036	T	C	CEP290	c.7365A>G	NM_025114.4	NP_079390.3:p.(Glu2455=)	NC_000012.11:g.88443036T>C	(Likely) benign	1 lab	8aba5e56d3
3:189584500 TP63 C>T	3	189584500	189584500	C	T	TP63	c.796C>T	NM_003722.5	NP_003713.3:p.(Arg266Ter)	NC_000003.11:g.189584500C>T	(Likely) pathogenic	1 lab	d306846685
2:51255240 NRXN1 G>A	2	51255240	51255240	G	A	NRXN1	c.172C>T	NM_004801.5	NP_004792.1:p.(Leu58Phe)	NC_000002.11:g.51255240G>A	(Likely) benign	1 lab	8abdd603b2
16:3299750 MEFV C>T	16	3299750	3299750	C	T	MEFV	c.941G>A	NM_000243.2	NP_000234.1:p.(Arg314His)	NC_000016.9:g.3299750C>T	VUS	1 lab	8abee623fe
4:187628845 FAT1 T>G	4	187628845	187628845	T	G	FAT1	c.2137A>C	NM_005245.4	NP_005236.2:p.(Ile713Leu)	NC_000004.11:g.187628845T>G	(Likely) benign	1 lab	8ac4afe080
20:44054437 PIGT C>T	20	44054437	44054437	C	T	PIGT	c.1708C>T	NM_015937.6	NP_057021.2:p.(Arg570Trp)	NC_000020.10:g.44054437C>T	VUS	1 lab	d308db2bd8
22:31008901 TCN2 C>T	22	31008901	31008901	C	T	TCN2	c.299C>T	NM_000355.4	NP_000346.2:p.(Pro100Leu)	NC_000022.10:g.31008901C>T	VUS	1 lab	d30b0301b1
X:103042867 PLP1 C>A	X	103042867	103042867	C	A	PLP1	c.594C>A	NM_000533.5	NP_000524.3:p.(Gly198=)	NC_000023.10:g.103042867C>A	(Likely) benign	1 lab	8ac887ab4d
6:51497362 PKHD1 C>T	6	51497362	51497362	C	T	PKHD1	c.11665+1G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51497362C>T	(Likely) pathogenic	1 lab	8acc6e7047
10:43609096 RET T>A	10	43609096	43609096	T	A	RET	c.1852T>A	NM_020975.4	NP_066124.1:p.(Cys618Ser)	NC_000010.10:g.43609096T>A	(Likely) pathogenic	1 lab	8ace6b8803
5:136314367 SPOCK1 C>CTCTT	5	136314367	136314372	C	CTCTT	SPOCK1	c.1292_1295dup	NM_004598.4	NP_004589.1:p.(Asp433ArgfsTer3)	NC_000005.9:g.136314369_136314372dup	VUS	1 lab	d310569254
9:139981614 MAN1B1 A>C	9	139981614	139981614	A	C	MAN1B1	c.163A>C	NM_016219.5	NP_057303.2:p.(Ser55Arg)	NC_000009.11:g.139981614A>C	(Likely) benign	1 lab	d310eb54ad
4:107016622 TBCK T>A	4	107016622	107016622	T	A	TBCK	c.2055+17A>T	NM_001290768.2	NP_001277697.2:p.?	NC_000004.11:g.107016622T>A	(Likely) benign	1 lab	8ad9f00af7
17:76121885 TMC6 C>T	17	76121885	76121885	C	T	TMC6	c.352G>A	NM_007267.6	NP_009198.4:p.(Gly118Arg)	NC_000017.10:g.76121885C>T	(Likely) benign	1 lab	8ade3408e4
16:1255374 CACNA1H G>T	16	1255374	1255374	G	T	CACNA1H	c.2603+109G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1255374G>T	(Likely) benign	1 lab	8ae68d4043
19:39001389 RYR1 C>T	19	39001389	39001389	C	T	RYR1	c.9090C>T	NM_000540.2	NP_000531.2:p.(His3030=)	NC_000019.9:g.39001389C>T	(Likely) benign	1 lab	8ae9aeaf0a
5:90078934 ADGRV1 A>G	5	90078934	90078934	A	G	ADGRV1	c.13232-7A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90078934A>G	(Likely) benign	1 lab	8aec81d1dd
20:31390222 DNMT3B T>G	20	31390222	31390222	T	G	DNMT3B	c.2177T>G	NM_006892.3	NP_008823.1:p.(Val726Gly)	NC_000020.10:g.31390222T>G	(Likely) pathogenic	1 lab	8af0255fe8
20:62073821 KCNQ2 A>G	20	62073821	62073821	A	G	KCNQ2	c.754T>C	NM_172107.4	NP_742105.1:p.(Leu252=)	NC_000020.10:g.62073821A>G	(Likely) benign	1 lab	8af202a41a
16:5122999 ALG1 G>T	16	5122999	5122999	G	T	ALG1	c.256G>T	NM_019109.4	NP_061982.3:p.(Val86Leu)	NC_000016.9:g.5122999G>T	(Likely) benign	1 lab	8af6ae1a3b
1:237969420 RYR2 C>G	1	237969420	237969420	C	G	RYR2	c.14152-17C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237969420C>G	(Likely) benign	1 lab	8af8385f5b
16:31195147 FUS C>G	16	31195147	31195147	C	G	FUS	c.191-32C>G	NM_004960.3	NP_004951.1:p.?	NC_000016.9:g.31195147C>G	(Likely) benign	1 lab	8af83c709d
19:16987025 SIN3B G>A	19	16987025	16987025	G	A	SIN3B	c.2848G>A	NM_015260.4	NP_056075.1:p.(Glu950Lys)	NC_000019.9:g.16987025G>A	VUS	1 lab	8afea40667
7:55221845 EGFR C>G	7	55221845	55221845	C	G	EGFR	c.730C>G	NM_001346900.2	NP_001333829.1:p.(Arg244Gly)	NC_000007.13:g.55221845C>G	VUS	1 lab	8b0ae89c53
21:34651864 IL10RB C>T	21	34651864	34651864	C	T	IL10RB				NC_000021.8:g.34651864C>T	(Likely) benign	1 lab	8b0bb361f4
10:79760818 POLR3A A>G	10	79760818	79760818	A	G	POLR3A	c.2394T>C	NM_007055.4	NP_008986.2:p.(Cys798=)	NC_000010.10:g.79760818A>G	(Likely) benign	1 lab	8b0f6658ca
11:128781301 KCNJ5 G>A	11	128781301	128781301	G	A	KCNJ5	c.133G>A	NM_000890.3	NP_000881.3:p.(Glu45Lys)	NC_000011.9:g.128781301G>A	(Likely) benign	1 lab	8b128eff1c
19:50826283 KCNC3 C>T	19	50826283	50826283	C	T	KCNC3	c.1927G>A	NM_004977.3	NP_004968.2:p.(Gly643Ser)	NC_000019.9:g.50826283C>T	VUS	1 lab	8b144f487e
17:73747193 ITGB4 G>A	17	73747193	73747193	G	A	ITGB4	c.3793+1G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73747193G>A	(Likely) pathogenic	1 lab	8b176bee9c
13:52532470 ATP7B G>A	13	52532470	52532470	G	A	ATP7B	c.2332C>T	NM_000053.4	NP_000044.2:p.(Arg778Trp)	NC_000013.10:g.52532470G>A	(Likely) pathogenic	1 lab	8b1bcc849c
11:22225330 ANO5 CTCTT>C	11	22225330	22225338	CTCTT	C	ANO5	c.41-15_41-12del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22225335_22225338del	(Likely) benign	1 lab	8b1d387ef3
1:8424265 RERE C>T	1	8424265	8424265	C	T	RERE	c.1591G>A	NM_012102.4	NP_036234.3:p.(Asp531Asn)	NC_000001.10:g.8424265C>T	VUS	1 lab	d3163df46d
14:105173261 INF2 G>A	14	105173261	105173261	G	A	INF2	c.858G>A	NM_022489.3	NP_071934.3:p.(Pro286=)	NC_000014.8:g.105173261G>A	(Likely) benign	1 lab	8b1d6c9fa2
12:53453836 TNS2 G>A	12	53453836	53453836	G	A	TNS2	c.2441G>A	NM_015319.2	NP_056134.2:p.(Arg814His)	NC_000012.11:g.53453836G>A	(Likely) benign	1 lab	8b1e9a300a
6:18121912 NHLRC1 G>A	6	18121912	18121912	G	A	NHLRC1	c.926C>T	NM_198586.3	NP_940988.2:p.(Thr309Ile)	NC_000006.11:g.18121912G>A	(Likely) pathogenic	1 lab	8b2189b17f
X:70341163 MED12 C>G	X	70341163	70341163	C	G	MED12	c.736-14C>G	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70341163C>G	(Likely) benign	1 lab	8b22b9c2bd
1:1372685 VWA1 TG>T	1	1372685	1372688	TG	T	VWA1	c.455del	NM_022834.5	NP_073745.2:p.(Gly152AlafsTer54)	NC_000001.10:g.1372688del	(Likely) pathogenic	1 lab	8b25193746
11:108200746 ATM T>C	11	108200746	108200746	T	C	ATM	c.7308-195T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108200746T>C	(Likely) benign	1 lab	8b3359b8cd
10:75391898 MYOZ1 T>C	10	75391898	75391898	T	C	MYOZ1	c.690A>G	NM_021245.4	NP_067068.1:p.(Gly230=)	NC_000010.10:g.75391898T>C	VUS	1 lab	8b39cdafb5
19:13318669 CACNA1A CCGCCTG>C	19	13318669	13318676	CCGCCTG	C	CACNA1A	c.6973_6978del	NM_001127222.2	NP_001120694.1:p.(Gln2325_Ala2326del)	NC_000019.9:g.13318671_13318676del	(Likely) benign	1 lab	8b3b720a1a
4:123868606 AFG2A C>A	4	123868606	123868606	C	A	AFG2A	c.1677C>A	NM_145207.3	NP_660208.2:p.(Tyr559Ter)	NC_000004.11:g.123868606C>A	(Likely) pathogenic	1 lab	8b3c9fc365
3:25686916 TOP2B T>C	3	25686916	25686916	T	C	TOP2B	c.100A>G	NM_001068.3	NP_001059.2:p.(Thr34Ala)	NC_000003.11:g.25686916T>C	(Likely) benign	1 lab	8b3f7f0478
12:6442930 TNFRSF1A A>C	12	6442930	6442930	A	C	TNFRSF1A	c.295T>G	NM_001065.3	NP_001056.1:p.(Cys99Gly)	NC_000012.11:g.6442930A>C	(Likely) pathogenic	1 lab	8b422fc0a5
2:163130296 IFIH1 T>C	2	163130296	163130296	T	C	IFIH1	c.2454+9A>G	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163130296T>C	(Likely) benign	1 lab	8b457706e3
8:11406644 BLK G>A	8	11406644	11406644	G	A	BLK	c.368+13G>A	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11406644G>A	(Likely) benign	1 lab	8b458a23c0
14:105182306 INF2 C>A	14	105182306	105182306	C	A	INF2	c.*1+629C>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105182306C>A	(Likely) benign	1 lab	8b4a669e79
21:34922515 SON G>A	21	34922515	34922515	G	A	SON	c.978G>A	NM_138927.2	NP_620305.2:p.(Met326Ile)	NC_000021.8:g.34922515G>A	(Likely) benign	1 lab	8b4b1116b3
7:135261834 NUP205 A>G	7	135261834	135261834	A	G	NUP205	c.606A>G	NM_015135.2	NP_055950.1:p.(Leu202=)	NC_000007.13:g.135261834A>G	(Likely) benign	1 lab	8b4f38a446
2:179534315 TTN A>G	2	179534315	179534315	A	G	TTN	c.35470+4T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179534315A>G	(Likely) benign	1 lab	8b52a739e6
1:41445517 CTPS1 G>T	1	41445517	41445517	G	T	CTPS1	c.-14+16G>T	NM_001905.4	NP_001896.2:p.?	NC_000001.10:g.41445517G>T	(Likely) benign	1 lab	8b6356515f
10:17152970 CUBN G>A	10	17152970	17152970	G	A	CUBN	c.963C>T	NM_001081.3	NP_001072.2:p.(Pro321=)	NC_000010.10:g.17152970G>A	(Likely) benign	1 lab	8b64155dff
8:68658127 CPA6 C>G	8	68658127	68658127	C	G	CPA6	c.116+122G>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658127C>G	(Likely) benign	1 lab	8b6590d026
12:6443304 TNFRSF1A T>C	12	6443304	6443304	T	C	TNFRSF1A	c.146A>G	NM_001065.3	NP_001056.1:p.(Tyr49Cys)	NC_000012.11:g.6443304T>C	(Likely) pathogenic	1 lab	8b67d95e4d
1:3739740 CEP104 C>T	1	3739740	3739740	C	T	CEP104	c.2569G>A	NM_014704.3	NP_055519.1:p.(Glu857Lys)	NC_000001.10:g.3739740C>T	(Likely) benign	1 lab	8b6e0e16f3
9:14774329 FREM1 T>C	9	14774329	14774329	T	C	FREM1	c.4857+1458A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14774329T>C	(Likely) benign	1 lab	8b72a43cfb
2:179505962 TTN T>C	2	179505962	179505962	T	C	TTN	c.13813+6A>G	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179505962T>C	(Likely) benign	1 lab	8b7b5fa513
6:152647642 SYNE1 C>T	6	152647642	152647642	C	T	SYNE1	c.15082G>A	NM_182961.4	NP_892006.3:p.(Ala5028Thr)	NC_000006.11:g.152647642C>T	VUS	1 lab	8b7c91dee6
2:241814432 AGXT G>A	2	241814432	241814432	G	A	AGXT	c.681-94G>A	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241814432G>A	(Likely) benign	1 lab	8b827f82ac
15:43268993 UBR1 A>G	15	43268993	43268993	A	G	UBR1	c.4291T>C	NM_174916.3	NP_777576.1:p.(Ser1431Pro)	NC_000015.9:g.43268993A>G	(Likely) pathogenic	1 lab	8b886f46f5
1:214813453 CENPF CAGAG>C	1	214813453	214813458	CAGAG	C	CENPF	c.1774_1777del	NM_016343.4	NP_057427.3:p.(Glu592LysfsTer7)	NC_000001.10:g.214813455_214813458del	(Likely) pathogenic	1 lab	8b8a08daa6
14:65237549 SPTB G>A	14	65237549	65237549	G	A	SPTB	c.5798+54C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65237549G>A	(Likely) benign	1 lab	8b8f55a08b
12:52309906 ACVRL1 G>A	12	52309906	52309906	G	A	ACVRL1	c.1135G>A	NM_000020.2	NP_000011.2:p.(Glu379Lys)	NC_000012.11:g.52309906G>A	(Likely) pathogenic	1 lab	8b95bd340d
12:45781927 ANO6 T>C	12	45781927	45781927	T	C	ANO6	c.1166-17T>C	NM_001025356.3	NP_001020527.2:p.?	NC_000012.11:g.45781927T>C	(Likely) benign	1 lab	8b97819e5a
12:121416400 HNF1A A>AGGGTTGG	12	121416400	121416418	A	AGGGTTGG	HNF1A	c.-160_-154dup	NM_001306179.2	NP_001293108.2:p.?	NC_000012.11:g.121416412_121416418dup	(Likely) benign	1 lab	8b9e0f59f0
3:186302391 DNAJB11 A>AGTGTGTGTGTGTGTGT	3	186302391	186302411	A	AGTGTGTGTGTGTGTGT	DNAJB11	c.1012+18_1012+33dup	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302396_186302411dup	(Likely) benign	1 lab	8b9f15c0ea
1:241663905 FH G>C	1	241663905	241663905	G	C	FH	c.1237-15C>G	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663905G>C	(Likely) benign	1 lab	d31950c1bd
8:86386697 CA2 C>T	8	86386697	86386697	C	T	CA2	c.444+52C>T	NM_000067.3	NP_000058.1:p.?	NC_000008.10:g.86386697C>T	(Likely) benign	1 lab	8ba3ccc76d
20:31019208 ASXL1 T>TGCCAACAC	20	31019208	31019209	T	TGCCAACAC	ASXL1	c.803_804insGCCAACAC	NM_015338.6	NP_056153.2:p.(Ile268MetfsTer27)	NC_000020.10:g.31019208_31019209insGCCAACAC	(Likely) pathogenic	1 lab	d31b1d2087
9:6606746 GLDC T>C	9	6606746	6606746	T	C	GLDC	c.636-77A>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6606746T>C	(Likely) benign	1 lab	8ba84d8e4d
2:189861915 COL3A1 C>G	2	189861915	189861915	C	G	COL3A1	c.1786C>G	NM_000090.3	NP_000081.1:p.(Arg596Gly)	NC_000002.11:g.189861915C>G	VUS	1 lab	8baa3d336d
4:79359704 FRAS1 C>A	4	79359704	79359704	C	A	FRAS1	c.5218-20C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79359704C>A	(Likely) benign	1 lab	8babdfb85b
14:102442247 DYNC1H1 C>CT	14	102442247	102442261	C	CT	DYNC1H1	c.344+125dup	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102442261dup	(Likely) benign	1 lab	8bae2e3cd2
22:17684453 ADA2 C>T	22	17684453	17684453	C	T	ADA2	c.753G>A	NM_001282225.2	NP_001269154.1:p.(Pro251=)	NC_000022.10:g.17684453C>T	(Likely) pathogenic	1 lab	8baec41f7f
1:120278072 PHGDH T>C	1	120278072	120278072	T	C	PHGDH	c.792+6T>C	NM_006623.4	NP_006614.2:p.?	NC_000001.10:g.120278072T>C	VUS	1 lab	8bb2ac5d2e
1:53676688 CPT2 T>C	1	53676688	53676688	T	C	CPT2	c.1342T>C	NM_000098.3	NP_000089.1:p.(Phe448Leu)	NC_000001.10:g.53676688T>C	(Likely) pathogenic	1 lab	8bb34804de
4:110884490 EGF A>G	4	110884490	110884490	A	G	EGF	c.1438+36A>G	NM_001963.6	NP_001954.2:p.?	NC_000004.11:g.110884490A>G	(Likely) benign	1 lab	8bb428aadc
19:10476262 TYK2 G>A	19	10476262	10476262	G	A	TYK2	c.942C>T	NM_003331.4	NP_003322.3:p.(His314=)	NC_000019.9:g.10476262G>A	(Likely) benign	1 lab	8bb713aa78
8:12956843 DLC1 G>A	8	12956843	12956843	G	A	DLC1	c.2990+13C>T	NM_182643.3	NP_872584.2:p.?	NC_000008.10:g.12956843G>A	(Likely) benign	1 lab	8bbc2068e0
16:1269143 CACNA1H G>A	16	1269143	1269143	G	A	CACNA1H	c.6048+13G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1269143G>A	(Likely) benign	1 lab	8bc4bd58b3
5:156672972 ITK C>T	5	156672972	156672972	C	T	ITK	c.1596C>T	NM_005546.3	NP_005537.3:p.(Phe532=)	NC_000005.9:g.156672972C>T	(Likely) benign	1 lab	8bc58544eb
19:40996052 SPTBN4 A>G	19	40996052	40996052	A	G	SPTBN4	c.392A>G	NM_020971.3	NP_066022.2:p.(Lys131Arg)	NC_000019.9:g.40996052A>G	VUS	1 lab	d31b278351
8:41561383 ANK1 G>A	8	41561383	41561383	G	A	ANK1	c.2394+176C>T	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41561383G>A	(Likely) benign	1 lab	8bc5b79399
5:37210343 CPLANE1 T>C	5	37210343	37210343	T	C	CPLANE1	c.2920+3318A>G	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37210343T>C	(Likely) benign	1 lab	8bc9523ce1
5:70238373 SMN1 A>G	5	70238373	70238373	A	G	SMN1	c.462A>G	NM_000344.3	NP_000335.1:p.(Gln154=)	NC_000005.9:g.70238373A>G	(Likely) benign	1 lab	8bcc18877b
19:1619324 TCF3 G>A	19	1619324	1619324	G	A	TCF3	c.1317C>T	NM_003200.5	NP_003191.1:p.(His439=)	NC_000019.9:g.1619324G>A	(Likely) benign	1 lab	8bcd1ce0a9
6:56469764 DST C>G	6	56469764	56469764	C	G	DST	c.9662G>C	NM_001374736.1	NP_001361665.1:p.(Gly3221Ala)	NC_000006.11:g.56469764C>G	(Likely) benign	1 lab	8bd1d3e792
20:60902331 LAMA5 G>A	20	60902331	60902331	G	A	LAMA5	c.5070C>T	NM_005560.4	NP_005551.3:p.(Pro1690=)	NC_000020.10:g.60902331G>A	(Likely) benign	1 lab	8bd7521e8a
8:48732074 PRKDC TAAA>T	8	48732074	48732095	TAAA	T	PRKDC	c.9337-6_9337-4del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48732093_48732095del	(Likely) benign	1 lab	8bd7e46e8d
7:2883676 GNA12 G>A	7	2883676	2883676	G	A	GNA12	c.120C>T	NM_007353.3	NP_031379.2:p.(Ser40=)	NC_000007.13:g.2883676G>A	(Likely) benign	1 lab	8bdbfe6b9c
19:13441166 CACNA1A G>A	19	13441166	13441166	G	A	CACNA1A	c.1256-16C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13441166G>A	(Likely) benign	1 lab	8be08c38b9
13:32903523 BRCA2 A>C	13	32903523	32903523	A	C	BRCA2	c.632-57A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903523A>C	(Likely) benign	1 lab	8be35dc819
10:90701587 ACTA2 C>T	10	90701587	90701587	C	T	ACTA2	c.409G>A	NM_001613.2	NP_001604.1:p.(Ala137Thr)	NC_000010.10:g.90701587C>T	VUS	1 lab	8be74f30a6
10:21186108 NEBL T>G	10	21186108	21186108	T	G	NEBL	c.27A>C	NM_006393.2	NP_006384.1:p.(Ile9=)	NC_000010.10:g.21186108T>G	(Likely) benign	1 lab	8be95cd451
2:48035369 FBXO11 C>T	2	48035369	48035369	C	T	FBXO11	c.2672G>A	NM_001190274.2	NP_001177203.1:p.(Gly891Asp)	NC_000002.11:g.48035369C>T	VUS	1 lab	8bead73676
1:247588464 NLRP3 G>T	1	247588464	247588464	G	T	NLRP3	c.1713G>T	NM_001243133.2	NP_001230062.1:p.(Leu571Phe)	NC_000001.10:g.247588464G>T	(Likely) pathogenic	1 lab	8bf50c6ead
15:93489284 CHD2 G>A	15	93489284	93489284	G	A	CHD2	c.1215G>A	NM_001271.4	NP_001262.3:p.(Pro405=)	NC_000015.9:g.93489284G>A	(Likely) benign	1 lab	8c0623ee9d
11:111741105 ALG9 CAAAA>C	11	111741105	111741127	CAAAA	C	ALG9	c.132-16_132-13del	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111741124_111741127del	(Likely) benign	1 lab	8c14ea0bdf
3:127785979 SEC61A1 G>C	3	127785979	127785979	G	C	SEC61A1	c.960G>C	NM_013336.4	NP_037468.1:p.(Leu320=)	NC_000003.11:g.127785979G>C	(Likely) benign	1 lab	8c21717028
7:103205799 RELN C>T	7	103205799	103205799	C	T	RELN	c.5136G>A	NM_005045.4	NP_005036.2:p.(Thr1712=)	NC_000007.13:g.103205799C>T	(Likely) benign	1 lab	8c22dd673b
4:187530402 FAT1 T>C	4	187530402	187530402	T	C	FAT1	c.10141A>G	NM_005245.4	NP_005236.2:p.(Ser3381Gly)	NC_000004.11:g.187530402T>C	(Likely) benign	1 lab	8c23504970
1:154548381 CHRNB2 A>G	1	154548381	154548381	A	G	CHRNB2	c.1482A>G	NM_000748.3	NP_000739.1:p.(Ser494=)	NC_000001.10:g.154548381A>G	(Likely) benign	1 lab	8c26651c41
17:48142060 ITGA3 G>A	17	48142060	48142060	G	A	ITGA3	c.414+89G>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48142060G>A	(Likely) benign	1 lab	8c2cfeac01
1:158587400 SPTA1 T>G	1	158587400	158587400	T	G	SPTA1	c.6549-22A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158587400T>G	(Likely) benign	1 lab	8c2d280d76
6:7565746 DSP CCTT>C	6	7565746	7565751	CCTT	C	DSP	c.935_937del	NM_004415.4	NP_004406.2:p.(Phe312del)	NC_000006.11:g.7565749_7565751del	VUS	1 lab	8c2e690dfb
16:8898636 PMM2 A>C	16	8898636	8898636	A	C	PMM2	c.191A>C	NM_000303.3	NP_000294.1:p.(Tyr64Ser)	NC_000016.9:g.8898636A>C	(Likely) pathogenic	1 lab	8c2f0cf621
17:73746259 ITGB4 C>T	17	73746259	73746259	C	T	ITGB4	c.3384C>T	NM_000213.5	NP_000204.3:p.(Gly1128=)	NC_000017.10:g.73746259C>T	(Likely) benign	1 lab	8c3182f18a
2:169792889 ABCB11 C>T	2	169792889	169792889	C	T	ABCB11	c.2665G>A	NM_003742.4	NP_003733.2:p.(Ala889Thr)	NC_000002.11:g.169792889C>T	VUS	1 lab	8c34001114
16:2136277 TSC2 C>T	16	2136277	2136277	C	T	TSC2	c.4746C>T	NM_000548.3	NP_000539.2:p.(Ile1582=)	NC_000016.9:g.2136277C>T	(Likely) benign	1 lab	8c3490fe73
14:24632645 IRF9 G>T	14	24632645	24632645	G	T	IRF9	c.423G>T	NM_006084.5	NP_006075.3:p.(Glu141Asp)	NC_000014.8:g.24632645G>T	(Likely) benign	1 lab	8c3e97e066
7:87229501 ABCB1 T>C	7	87229501	87229501	T	C	ABCB1	c.-1A>G	NM_000927.5	NP_000918.2:p.?	NC_000007.13:g.87229501T>C	(Likely) benign	1 lab	d31ea98a3b
16:20360447 UMOD T>C	16	20360447	20360447	T	C	UMOD	c.176A>G	NM_003361.3	NP_003352.2:p.(Asp59Gly)	NC_000016.9:g.20360447T>C	VUS	1 lab	8c41373064
X:70329178 IL2RG G>T	X	70329178	70329178	G	T	IL2RG	c.657C>A	NM_000206.2	NP_000197.1:p.(Tyr219Ter)	NC_000023.10:g.70329178G>T	VUS	1 lab	8c43758e18
1:173933099 RC3H1 T>C	1	173933099	173933099	T	C	RC3H1	c.1831+12A>G	NM_172071.4	NP_742068.1:p.?	NC_000001.10:g.173933099T>C	(Likely) benign	1 lab	8c43cfd60f
10:78944796 KCNMA1 AC>A	10	78944796	78944797	AC	A	KCNMA1	c.603-123del	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78944797del	(Likely) benign	1 lab	8c4987d96b
6:33636891 ITPR3 G>C	6	33636891	33636891	G	C	ITPR3	c.2147G>C	NM_002224.3	NP_002215.2:p.(Arg716Pro)	NC_000006.11:g.33636891G>C	(Likely) benign	1 lab	8c4b26faa9
7:77648731 MAGI2 C>G	7	77648731	77648731	C	G	MAGI2	c.4269G>C	NM_012301.4	NP_036433.2:p.(Pro1423=)	NC_000007.13:g.77648731C>G	(Likely) benign	1 lab	8c4cc7f44c
15:77308495 PSTPIP1 C>G	15	77308495	77308495	C	G	PSTPIP1	c.37-1994C>G	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77308495C>G	(Likely) benign	1 lab	8c4d1d518b
9:14788886 FREM1 T>C	9	14788886	14788886	T	C	FREM1	c.4177+31A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14788886T>C	(Likely) benign	1 lab	8cfff13dc6
9:2110398 SMARCA2 G>C	9	2110398	2110398	G	C	SMARCA2	c.3437G>C	NM_003070.5	NP_003061.3:p.(Ser1146Thr)	NC_000009.11:g.2110398G>C	(Likely) pathogenic	1 lab	8c4e6490cd
2:128046233 ERCC3 T>C	2	128046233	128046233	T	C	ERCC3	c.1027+3A>G	NM_000122.1	NP_000113.1:p.?	NC_000002.11:g.128046233T>C	(Likely) benign	1 lab	8c4eacc7f3
5:148388879 SH3TC2 C>T	5	148388879	148388879	C	T	SH3TC2	c.3328-315G>A	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148388879C>T	(Likely) benign	1 lab	8c532088ea
12:52078070 SCN8A T>C	12	52078070	52078070	T	C	SCN8A	c.389T>C	NM_014191.4	NP_055006.1:p.(Ile130Thr)	NC_000012.11:g.52078070T>C	(Likely) benign	1 lab	8c544477da
12:66849408 GRIP1 T>C	12	66849408	66849408	T	C	GRIP1	c.1043-64A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849408T>C	(Likely) benign	1 lab	8c5d504945
17:18149133 FLII A>T	17	18149133	18149133	A	T	FLII	c.3395T>A	NM_001256264.2	NP_001243193.1:p.(Phe1132Tyr)	NC_000017.10:g.18149133A>T	VUS	1 lab	8c5e9c53f9
2:228109035 COL4A3 G>A	2	228109035	228109035	G	A	COL4A3	c.235-1G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228109035G>A	(Likely) pathogenic	1 lab	8c609226fa
1:183559309 NCF2 G>A	1	183559309	183559309	G	A	NCF2	c.156C>T	NM_000433.3	NP_000424.2:p.(Asn52=)	NC_000001.10:g.183559309G>A	(Likely) benign	1 lab	8c60d80337
19:11489146 EPOR C>T	19	11489146	11489146	C	T	EPOR	c.1041G>A	NM_000121.4	NP_000112.1:p.(Pro347=)	NC_000019.9:g.11489146C>T	(Likely) benign	1 lab	8c60de704f
2:238250839 COL6A3 G>A	2	238250839	238250839	G	A	COL6A3	c.7669-35C>T	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238250839G>A	(Likely) benign	1 lab	8c66eea079
19:54314522 NLRP12 C>T	19	54314522	54314522	C	T	NLRP12	c.391G>A	NM_144687.4	NP_653288.1:p.(Asp131Asn)	NC_000019.9:g.54314522C>T	(Likely) benign	1 lab	8c6846a553
2:179424831 TTN CA>C	2	179424831	179424832	CA	C	TTN	c.86027del	NM_001267550.2	NP_001254479.2:p.(Leu28676ArgfsTer8)	NC_000002.11:g.179424832del	(Likely) pathogenic	1 lab	8c69028440
16:47730291 PHKB G>T	16	47730291	47730291	G	T	PHKB	c.2875-1G>T	NM_001031835.3	NP_001027005.1:p.?	NC_000016.9:g.47730291G>T	(Likely) pathogenic	1 lab	8c6916bc5b
11:72004500 CLPB G>A	11	72004500	72004500	G	A	CLPB	c.2035C>T	NM_030813.6	NP_110440.1:p.(Arg679Cys)	NC_000011.9:g.72004500G>A	VUS	1 lab	d323c8e4d9
19:36339044 NPHS1 C>T	19	36339044	36339044	C	T	NPHS1	c.1339G>A	NM_004646.3	NP_004637.1:p.(Glu447Lys)	NC_000019.9:g.36339044C>T	(Likely) benign	1 lab	8c70cc3915
14:65263174 SPTB G>A	14	65263174	65263174	G	A	SPTB	c.1341+101C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65263174G>A	(Likely) benign	1 lab	8c715abcd2
13:32970955 BRCA2 G>T	13	32970955	32970955	G	T	BRCA2	c.9502-80G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32970955G>T	(Likely) benign	1 lab	8c7168ff36
5:41203368 C6 A>G	5	41203368	41203368	A	G	C6	c.-20-16T>C	NM_000065.2	NP_000056.2:p.?	NC_000005.9:g.41203368A>G	(Likely) benign	1 lab	8c76699d0d
12:6442966 TNFRSF1A C>T	12	6442966	6442966	C	T	TNFRSF1A	c.259G>A	NM_001065.3	NP_001056.1:p.(Gly87Ser)	NC_000012.11:g.6442966C>T	VUS	1 lab	8c770a9a26
1:230839821 AGT C>T	1	230839821	230839821	C	T	AGT	c.1269+118G>A	NM_000029.4	NP_000020.1:p.?	NC_000001.10:g.230839821C>T	(Likely) benign	1 lab	8c7b406d3a
2:228146991 COL4A3 AATAT>A	2	228146991	228147017	AATAT	A	COL4A3	c.2489-67_2489-64del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228147014_228147017del	(Likely) benign	1 lab	8c800ca280
5:90008047 ADGRV1 A>G	5	90008047	90008047	A	G	ADGRV1	c.9043-57A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90008047A>G	(Likely) benign	1 lab	8c814081f3
7:117199554 CFTR C>A	7	117199554	117199554	C	A	CFTR	c.1429C>A	NM_000492.4	NP_000483.3:p.(Pro477Thr)	NC_000007.13:g.117199554C>A	VUS	1 lab	d3296714a9
11:85988034 EED G>T	11	85988034	85988034	G	T	EED	c.979G>T	NM_003797.5	NP_003788.2:p.(Ala327Ser)	NC_000011.9:g.85988034G>T	VUS	1 lab	d32bc25d06
2:233321982 ALPI G>A	2	233321982	233321982	G	A	ALPI	c.598G>A	NM_001631.5	NP_001622.2:p.(Glu200Lys)	NC_000002.11:g.233321982G>A	(Likely) benign	1 lab	8c85d45d81
2:179446628 TTN C>G	2	179446628	179446628	C	G	TTN	c.39643+5G>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179446628C>G	VUS	1 lab	8c87fa4aab
20:61981128 CHRNA4 C>T	20	61981128	61981128	C	T	CHRNA4	c.1635G>A	NM_000744.6	NP_000735.1:p.(Thr545=)	NC_000020.10:g.61981128C>T	(Likely) benign	1 lab	8c897452aa
4:79461794 FRAS1 G>A	4	79461794	79461794	G	A	FRAS1	c.11555G>A	NM_025074.7	NP_079350.5:p.(Arg3852Gln)	NC_000004.11:g.79461794G>A	(Likely) benign	1 lab	8c89e287a3
19:42383249 CD79A C>T	19	42383249	42383249	C	T	CD79A	c.269C>T	NM_001783.3	NP_001774.1:p.(Thr90Met)	NC_000019.9:g.42383249C>T	(Likely) benign	1 lab	8c931fd6ea
20:30661133 HCK C>A	20	30661133	30661133	C	A	HCK	c.135C>A	NM_001172132.2	NP_001165603.1:p.(Ser45Arg)	NC_000020.10:g.30661133C>A	(Likely) benign	1 lab	8c99eace86
13:39454598 FREM2 G>T	13	39454598	39454598	G	T	FREM2	c.9184G>T	NM_207361.6	NP_997244.4:p.(Ala3062Ser)	NC_000013.10:g.39454598G>T	(Likely) benign	1 lab	8c9c91cf64
12:133219806 POLE TCA>T	12	133219806	133219810	TCA	T	POLE	c.4551+2_4551+3del	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133219809_133219810del	VUS	1 lab	d32bcd5d05
11:20658843 SLC6A5 C>T	11	20658843	20658843	C	T	SLC6A5	c.1863C>T	NM_004211.5	NP_004202.4:p.(Ile621=)	NC_000011.9:g.20658843C>T	(Likely) benign	1 lab	8ca51cd182
17:54925480 DGKE C>CAT	17	54925480	54925496	C	CAT	DGKE	c.888+69_888+70dup	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54925495_54925496dup	(Likely) benign	1 lab	8ca9ebf07b
1:6272028 RNF207 G>A	1	6272028	6272028	G	A	RNF207	c.1211G>A	NM_207396.3	NP_997279.2:p.(Arg404Gln)	NC_000001.10:g.6272028G>A	(Likely) benign	1 lab	8caa84a6c1
4:155507039 FGA A>G	4	155507039	155507039	A	G	FGA	c.1542T>C	NM_000508.3	NP_000499.1:p.(Pro514=)	NC_000004.11:g.155507039A>G	(Likely) benign	1 lab	8caa96a789
5:11385151 CTNND2 G>T	5	11385151	11385151	G	T	CTNND2	c.803C>A	NM_001332.4	NP_001323.1:p.(Pro268Gln)	NC_000005.9:g.11385151G>T	(Likely) benign	1 lab	8cab35e31a
15:41384330 INO80 G>A	15	41384330	41384330	G	A	INO80	c.432C>T	NM_017553.3	NP_060023.1:p.(Asp144=)	NC_000015.9:g.41384330G>A	(Likely) benign	1 lab	8cad2f556f
8:11420516 BLK C>T	8	11420516	11420516	C	T	BLK	c.1209C>T	NM_001715.3	NP_001706.2:p.(Ala403=)	NC_000008.10:g.11420516C>T	(Likely) benign	1 lab	8cad9d331b
17:63545736 AXIN2 A>C	17	63545736	63545736	A	C	AXIN2	c.858T>G	NM_004655.4	NP_004646.3:p.(Gly286=)	NC_000017.10:g.63545736A>C	(Likely) benign	1 lab	d32f5d9a4c
1:26139055 SELENON A>AAC	1	26139055	26139097	A	AAC	SELENON	c.1282-82_1282-81dup	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139096_26139097dup	(Likely) benign	1 lab	8cb1eb0cb0
4:6612947 MAN2B2 C>T	4	6612947	6612947	C	T	MAN2B2	c.2505C>T	NM_015274.3	NP_056089.1:p.(Arg835=)	NC_000004.11:g.6612947C>T	(Likely) benign	1 lab	8cb512de57
2:27305149 EMILIN1 T>G	2	27305149	27305149	T	G	EMILIN1	c.710T>G	NM_007046.4	NP_008977.1:p.(Leu237Arg)	NC_000002.11:g.27305149T>G	VUS	1 lab	8cbc4c7472
1:243541986 SDCCAG8 T>G	1	243541986	243541986	T	G	SDCCAG8	c.1474-37T>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243541986T>G	(Likely) benign	1 lab	8cbecf9b8b
2:179518248 TTN A>G	2	179518248	179518248	A	G	TTN	c.38627-14T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179518248A>G	(Likely) benign	1 lab	8cbf6d47cb
X:154132667 F8 T>A	X	154132667	154132667	T	A	F8	c.5719A>T	NM_000132.3	NP_000123.1:p.(Ser1907Cys)	NC_000023.10:g.154132667T>A	(Likely) pathogenic	1 lab	8cbfe4445d
15:42138257 JMJD7-PLA2G4B G>A	15	42138257	42138257	G	A	JMJD7-PLA2G4B	c.2293+12G>A	NM_005090.3	NP_005081.1:p.?	NC_000015.9:g.42138257G>A	(Likely) benign	1 lab	8cc180de66
19:33878269 PEPD G>A	19	33878269	33878269	G	A	PEPD	c.1463C>T	NM_000285.4	NP_000276.2:p.(Pro488Leu)	NC_000019.9:g.33878269G>A	(Likely) benign	1 lab	8cc246b96d
2:202123108 CASP8 G>A	2	202123108	202123108	G	A	CASP8	c.151+3G>A	NM_001080125.2	NP_001073594.1:p.?	NC_000002.11:g.202123108G>A	(Likely) benign	1 lab	8ccb1b6264
9:131088115 COQ4 G>T	9	131088115	131088115	G	T	COQ4	c.357G>T	NM_016035.4	NP_057119.2:p.(Pro119=)	NC_000009.11:g.131088115G>T	(Likely) benign	1 lab	8ccf39d353
20:60893638 LAMA5 G>A	20	60893638	60893638	G	A	LAMA5	c.7111C>T	NM_005560.4	NP_005551.3:p.(Arg2371Cys)	NC_000020.10:g.60893638G>A	(Likely) benign	1 lab	8ccfbbc08f
8:72123506 EYA1 T>C	8	72123506	72123506	T	C	EYA1	c.1598-15A>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72123506T>C	(Likely) benign	1 lab	8cd299a472
22:31010462 TCN2 C>T	22	31010462	31010462	C	T	TCN2				NC_000022.10:g.31010462C>T	(Likely) benign	1 lab	8cd4fb480d
13:37399663 RFXAP A>G	13	37399663	37399663	A	G	RFXAP	c.699A>G	NM_000538.3	NP_000529.1:p.(Gln233=)	NC_000013.10:g.37399663A>G	(Likely) benign	1 lab	8cd6f9f7bc
1:74701866 TNNI3K G>A	1	74701866	74701866	G	A	TNNI3K	c.121G>A	NM_015978.3	NP_057062.1:p.(Glu41Lys)	NC_000001.10:g.74701866G>A	VUS	1 lab	d33289eb7f
4:79458537 FRAS1 C>A	4	79458537	79458537	C	A	FRAS1	c.11298+183C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79458537C>A	(Likely) benign	1 lab	8cd86f3355
1:198668679 PTPRC C>T	1	198668679	198668679	C	T	PTPRC	c.299-14C>T	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198668679C>T	(Likely) benign	1 lab	8cdae332d9
4:79391424 FRAS1 C>T	4	79391424	79391424	C	T	FRAS1	c.7371+179C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391424C>T	(Likely) benign	1 lab	8ce0ad85c7
3:47449238 PTPN23 C>A	3	47449238	47449238	C	A	PTPN23	c.1055C>A	NM_015466.4	NP_056281.1:p.(Thr352Lys)	NC_000003.11:g.47449238C>A	VUS	1 lab	8ce1a5bab1
3:53215635 PRKCD C>T	3	53215635	53215635	C	T	PRKCD	c.539+13C>T	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53215635C>T	(Likely) benign	1 lab	8ce95b03c9
16:81904447 PLCG2 A>G	16	81904447	81904447	A	G	PLCG2	c.565-10A>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81904447A>G	(Likely) benign	1 lab	8cea2389a3
16:56919195 SLC12A3 C>G	16	56919195	56919195	C	G	SLC12A3	c.1844C>G	NM_000339.3	NP_000330.3:p.(Ser615Trp)	NC_000016.9:g.56919195C>G	(Likely) pathogenic	1 lab	8cea7d7683
11:2906276 CDKN1C C>T	11	2906276	2906276	C	T	CDKN1C	c.444G>A	NM_000076.2	NP_000067.1:p.(Pro148=)	NC_000011.9:g.2906276C>T	(Likely) benign	1 lab	8cec0ff3f3
1:247587677 NLRP3 T>C	1	247587677	247587677	T	C	NLRP3	c.926T>C	NM_001243133.2	NP_001230062.1:p.(Phe309Ser)	NC_000001.10:g.247587677T>C	(Likely) pathogenic	1 lab	8ced47d98c
19:34003620 PEPD C>CGGTT	19	34003620	34003624	C	CGGTT	PEPD	c.76_79dup	NM_000285.4	NP_000276.2:p.(Arg27GlnfsTer7)	NC_000019.9:g.34003621_34003624dup	(Likely) pathogenic	1 lab	8cf39ccb46
17:35295653 LHX1 C>G	17	35295653	35295653	C	G	LHX1	c.159C>G	NM_005568.5	NP_005559.2:p.(Asn53Lys)	NC_000017.10:g.35295653C>G	(Likely) benign	1 lab	8cfacf60d3
2:166201060 SCN2A T>C	2	166201060	166201060	T	C	SCN2A	c.2563-5T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166201060T>C	(Likely) benign	1 lab	8cfc74593e
1:228403429 OBSCN G>A	1	228403429	228403429	G	A	OBSCN	c.1994G>A	NM_001271223.2	NP_001258152.2:p.(Arg665Gln)	NC_000001.10:g.228403429G>A	(Likely) benign	1 lab	8cfc74c7dc
6:32800577 TAP2 C>T	6	32800577	32800577	C	T	TAP2	c.970G>A	NM_018833.2	NP_061313.2:p.(Ala324Thr)	NC_000006.11:g.32800577C>T	(Likely) benign	1 lab	8cfd05b638
16:1259273 CACNA1H G>A	16	1259273	1259273	G	A	CACNA1H	c.3605G>A	NM_021098.3	NP_066921.2:p.(Arg1202Gln)	NC_000016.9:g.1259273G>A	(Likely) benign	1 lab	8d00cacc2f
1:43424519 SLC2A1 T>G	1	43424519	43424519	T	G	SLC2A1	c.-197A>C	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43424519T>G	(Likely) benign	1 lab	8d01cad479
21:47417303 COL6A1 T>C	21	47417303	47417303	T	C	COL6A1	c.1399-32T>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47417303T>C	(Likely) benign	1 lab	8d03590b9e
12:52115434 SCN8A G>A	12	52115434	52115434	G	A	SCN8A	c.1740G>A	NM_014191.4	NP_055006.1:p.(Glu580=)	NC_000012.11:g.52115434G>A	(Likely) benign	1 lab	8d054f1982
9:135172436 SETX C>T	9	135172436	135172436	C	T	SETX	c.5787G>A	NM_015046.5	NP_055861.3:p.(Ala1929=)	NC_000009.11:g.135172436C>T	(Likely) benign	1 lab	8d05ccc16b
2:166908188 SCN1A A>T	2	166908188	166908188	A	T	SCN1A	c.964+41T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166908188A>T	(Likely) benign	1 lab	8d0c0ddb69
18:12703140 PSMG2 C>T	18	12703140	12703140	C	T	PSMG2	c.34C>T	NM_020232.5	NP_064617.2:p.(Leu12Phe)	NC_000018.9:g.12703140C>T	(Likely) benign	1 lab	8d0d829cb9
16:53705552 RPGRIP1L TA>T	16	53705552	53705561	TA	T	RPGRIP1L	c.1030-58del	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53705561del	(Likely) benign	1 lab	8d0defc8b0
5:37139507 CPLANE1 GT>G	5	37139507	37139516	GT	G	CPLANE1	c.8633-36del	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37139516del	(Likely) benign	1 lab	8d11e999f1
20:10632219 JAG1 T>C	20	10632219	10632219	T	C	JAG1	c.1120+10A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10632219T>C	(Likely) benign	1 lab	8d195fe5db
3:14172323 TMEM43 G>A	3	14172323	14172323	G	A	TMEM43	c.164G>A	NM_024334.2	NP_077310.1:p.(Gly55Asp)	NC_000003.11:g.14172323G>A	(Likely) benign	1 lab	8d2c2ce783
16:3304438 MEFV C>G	16	3304438	3304438	C	G	MEFV	c.630G>C	NM_000243.2	NP_000234.1:p.(Ala210=)	NC_000016.9:g.3304438C>G	(Likely) benign	1 lab	8d2d560838
2:227945186 COL4A4 A>G	2	227945186	227945186	A	G	COL4A4	c.1776T>C	NM_000092.4	NP_000083.3:p.(Ala592=)	NC_000002.11:g.227945186A>G	(Likely) benign	1 lab	8d30517aa1
16:89357091 ANKRD11 G>A	16	89357091	89357091	G	A	ANKRD11	c.543C>T	NM_001256182.2	NP_001243111.1:p.(Ala181=)	NC_000016.9:g.89357091G>A	(Likely) benign	1 lab	8d31126313
10:91294401 SLC16A12 CAA>C	10	91294401	91294428	CAA	C	SLC16A12	c.-186-6_-186-5del	NM_213606.4	NP_998771.3:p.?	NC_000010.10:g.91294427_91294428del	(Likely) benign	1 lab	8d38bdba48
9:130223551 LRSAM1 G>T	9	130223551	130223551	G	T	LRSAM1	c.406+15G>T	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130223551G>T	(Likely) benign	1 lab	8d38c4737c
1:247588057 NLRP3 A>G	1	247588057	247588057	A	G	NLRP3	c.1306A>G	NM_001243133.2	NP_001230062.1:p.(Thr436Ala)	NC_000001.10:g.247588057A>G	(Likely) pathogenic	1 lab	8d3a63b0d0
14:105169731 INF2 G>A	14	105169731	105169731	G	A	INF2	c.607G>A	NM_022489.3	NP_071934.3:p.(Ala203Thr)	NC_000014.8:g.105169731G>A	VUS	1 lab	8d3a9836cf
1:1960633 GABRD G>A	1	1960633	1960633	G	A	GABRD	c.775G>A	NM_000815.5	NP_000806.2:p.(Val259Ile)	NC_000001.10:g.1960633G>A	(Likely) benign	1 lab	8d3e7f287e
17:8146374 CTC1 T>C	17	8146374	8146374	T	C	CTC1	c.126A>G	NM_025099.6	NP_079375.3:p.(Val42=)	NC_000017.10:g.8146374T>C	(Likely) benign	1 lab	8d3fd23423
2:48033763 MSH6 A>AAATC	2	48033763	48033764	A	AAATC	MSH6	c.3974_3975insAATC	NM_000179.2	NP_000170.1:p.(Met1326IlefsTer16)	NC_000002.11:g.48033763_48033764insAATC	VUS	1 lab	8d3fdf5ecf
10:102539277 PAX2 C>T	10	102539277	102539277	C	T	PAX2	c.433C>T	NM_003988.5	NP_003979.2:p.(Gln145Ter)	NC_000010.10:g.102539277C>T	(Likely) pathogenic	1 lab	8d41463fa9
5:89938764 ADGRV1 A>G	5	89938764	89938764	A	G	ADGRV1	c.2459A>G	NM_032119.4	NP_115495.3:p.(Asn820Ser)	NC_000005.9:g.89938764A>G	(Likely) benign	1 lab	8d418d2af0
6:129581843 LAMA2 T>C	6	129581843	129581843	T	C	LAMA2	c.2097-13T>C	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129581843T>C	(Likely) benign	1 lab	8d45f2c842
3:189585483 TP63 A>G	3	189585483	189585483	A	G	TP63	c.883-139A>G	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189585483A>G	(Likely) benign	1 lab	8d499ad532
12:111350944 MYL2 G>A	12	111350944	111350944	G	A	MYL2	c.358C>T	NM_000432.3	NP_000423.2:p.(Arg120Trp)	NC_000012.11:g.111350944G>A	(Likely) pathogenic	1 lab	8d4a9a2fb9
20:60910147 LAMA5 G>A	20	60910147	60910147	G	A	LAMA5	c.2412C>T	NM_005560.4	NP_005551.3:p.(Cys804=)	NC_000020.10:g.60910147G>A	(Likely) benign	1 lab	8d4b965105
3:178948074 PIK3CA G>A	3	178948074	178948074	G	A	PIK3CA	c.2846G>A	NM_006218.4	NP_006209.2:p.(Arg949Gln)	NC_000003.11:g.178948074G>A	VUS	1 lab	d336f2ca30
9:4286194 GLIS3 G>C	9	4286194	4286194	G	C	GLIS3	c.232C>G	NM_001042413.2	NP_001035878.1:p.(Arg78Gly)	NC_000009.11:g.4286194G>C	(Likely) benign	1 lab	8d4cc58d2a
6:118014295 NUS1 C>G	6	118014295	118014295	C	G	NUS1	c.506C>G	NM_138459.5	NP_612468.1:p.(Pro169Arg)	NC_000006.11:g.118014295C>G	(Likely) benign	1 lab	8d511f14dc
18:48584802 SMAD4 A>G	18	48584802	48584802	A	G	SMAD4	c.880A>G	NM_005359.5	NP_005350.1:p.(Met294Val)	NC_000018.9:g.48584802A>G	(Likely) benign	1 lab	8d59536421
6:52288585 EFHC1 C>T	6	52288585	52288585	C	T	EFHC1	c.64-159C>T	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52288585C>T	(Likely) benign	1 lab	8d5bf6946c
2:166245115 SCN2A T>G	2	166245115	166245115	T	G	SCN2A	c.4823-24T>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166245115T>G	VUS	1 lab	8d5d3de2f6
2:10188649 KLF11 A>T	2	10188649	10188649	A	T	KLF11	c.1134A>T	NM_001177718.2	NP_001171189.1:p.(Val378=)	NC_000002.11:g.10188649A>T	(Likely) benign	1 lab	d3387151ac
16:2098205 TSC2 T>G	16	2098205	2098205	T	G	TSC2	c.-30+139T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2098205T>G	(Likely) benign	1 lab	8d62e1fe53
17:16852206 TNFRSF13B A>C	17	16852206	16852206	A	C	TNFRSF13B	c.291T>G	NM_012452.2	NP_036584.1:p.(Pro97=)	NC_000017.10:g.16852206A>C	(Likely) benign	1 lab	8d63af79ea
X:50112004 DGKK G>A	X	50112004	50112004	G	A	DGKK	c.3751C>T	NM_001013742.4	NP_001013764.1:p.(Arg1251Cys)	NC_000023.10:g.50112004G>A	(Likely) benign	1 lab	8d63dad133
19:42407950 ARHGEF1 C>T	19	42407950	42407950	C	T	ARHGEF1	c.1962+14C>T	NM_199002.2	NP_945353.1:p.?	NC_000019.9:g.42407950C>T	(Likely) benign	1 lab	8d643716f4
21:46309220 ITGB2 G>A	21	46309220	46309220	G	A	ITGB2	c.1848C>T	NM_000211.3	NP_000202.2:p.(Pro616=)	NC_000021.8:g.46309220G>A	(Likely) benign	1 lab	8d67fbd634
4:72433481 SLC4A4 CT>C	4	72433481	72433491	CT	C	SLC4A4	c.*37-14del	NM_001098484.3	NP_001091954.1:p.?	NC_000004.11:g.72433491del	(Likely) benign	1 lab	8d696fbc7b
7:84628865 SEMA3D T>TGTCTCCGCTTCTCC	7	84628865	84628879	T	TGTCTCCGCTTCTCC	SEMA3D	c.2211_2224dup	NM_152754.3	NP_689967.2:p.(Gln742ArgfsTer20)	NC_000007.13:g.84628866_84628879dup	VUS	1 lab	d33989c4a2
11:67939024 KMT5B G>A	11	67939024	67939024	G	A	KMT5B	c.806C>T	NM_017635.5	NP_060105.3:p.(Ala269Val)	NC_000011.9:g.67939024G>A	VUS	1 lab	d33a6494b0
21:34725223 IFNAR1 C>A	21	34725223	34725223	C	A	IFNAR1	c.1294+9C>A	NM_000629.3	NP_000620.2:p.?	NC_000021.8:g.34725223C>A	(Likely) benign	1 lab	8d6e88d131
6:10402652 TFAP2A A>G	6	10402652	10402652	A	G	TFAP2A	c.883+73T>C	NM_003220.2	NP_003211.1:p.?	NC_000006.11:g.10402652A>G	(Likely) benign	1 lab	8d725854ff
7:27213101 HOXA10 G>C	7	27213101	27213101	G	C	HOXA10	c.825C>G	NM_018951.4	NP_061824.3:p.(Pro275=)	NC_000007.13:g.27213101G>C	(Likely) benign	1 lab	8d73cec30f
14:65250939 SPTB A>G	14	65250939	65250939	A	G	SPTB	c.4002+26T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65250939A>G	(Likely) benign	1 lab	8d76e4e108
19:2111317 AP3D1 G>A	19	2111317	2111317	G	A	AP3D1	c.2952C>T	NM_001261826.3	NP_001248755.1:p.(Tyr984=)	NC_000019.9:g.2111317G>A	(Likely) benign	1 lab	8d780ca048
7:128498630 FLNC T>TAC	7	128498630	128498653	T	TAC	FLNC	c.*75_*76dup	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128498652_128498653dup	(Likely) benign	1 lab	8d7b684c6d
2:166854515 SCN1A C>T	2	166854515	166854515	C	T	SCN1A	c.4476+33G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166854515C>T	(Likely) benign	1 lab	8d7f351939
9:14756318 FREM1 CA>C	9	14756318	14756327	CA	C	FREM1	c.5407+53del	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14756327del	(Likely) benign	1 lab	8d857a2227
12:15702179 PTPRO G>GAAA	12	15702179	15702180	G	GAAA	PTPRO	c.2437+19_2437+20insAAA	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15702179_15702180insAAA	(Likely) benign	1 lab	8d89513582
4:186444529 PDLIM3 T>G	4	186444529	186444529	T	G	PDLIM3	c.317A>C	NM_014476.6	NP_055291.2:p.(Glu106Ala)	NC_000004.11:g.186444529T>G	VUS	1 lab	8d90951e3e
4:79428489 FRAS1 A>G	4	79428489	79428489	A	G	FRAS1	c.9317-86A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79428489A>G	(Likely) benign	1 lab	8d91a73f51
19:33321717 SLC7A9 A>AGG	19	33321717	33321719	A	AGG	SLC7A9	c.1400-129_1400-128dup	NM_001243036.2	NP_001229965.1:p.?	NC_000019.9:g.33321718_33321719dup	(Likely) benign	1 lab	8d920e35bb
15:59480405 MYO1E G>A	15	59480405	59480405	G	A	MYO1E	c.1816C>T	NM_004998.3	NP_004989.2:p.(Gln606Ter)	NC_000015.9:g.59480405G>A	(Likely) pathogenic	1 lab	8d929643eb
5:11236869 CTNND2 C>T	5	11236869	11236869	C	T	CTNND2	c.1695G>A	NM_001332.4	NP_001323.1:p.(Ser565=)	NC_000005.9:g.11236869C>T	(Likely) benign	1 lab	8d930eed79
11:62295110 AHNAK C>A	11	62295110	62295110	C	A	AHNAK	c.6779G>T	NM_001620.3	NP_001611.1:p.(Gly2260Val)	NC_000011.9:g.62295110C>A	VUS	1 lab	d33b0cf1da
20:42815288 JPH2 C>G	20	42815288	42815288	C	G	JPH2	c.58G>C	NM_020433.4	NP_065166.2:p.(Gly20Arg)	NC_000020.10:g.42815288C>G	VUS	1 lab	8d9c80e638
11:9850966 SBF2 C>A	11	9850966	9850966	C	A	SBF2	c.3730G>T	NM_030962.3	NP_112224.1:p.(Val1244Phe)	NC_000011.9:g.9850966C>A	(Likely) benign	1 lab	8dab4af0e7
16:81954894 PLCG2 A>G	16	81954894	81954894	A	G	PLCG2	c.2307+20A>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81954894A>G	(Likely) benign	1 lab	8dabad4711
X:1424428 CSF2RA G>A	X	1424428	1424428	G	A	CSF2RA	c.1227+8G>A	NM_001161530.1	NP_001155002.1:p.?	NC_000023.10:g.1424428G>A	(Likely) benign	1 lab	8dabe497ae
17:40498722 STAT3 C>T	17	40498722	40498722	C	T	STAT3	c.138G>A	NM_139276.2	NP_644805.1:p.(Ala46=)	NC_000017.10:g.40498722C>T	(Likely) benign	1 lab	8dabf743b2
10:72636326 SGPL1 G>A	10	72636326	72636326	G	A	SGPL1	c.1474G>A	NM_003901.4	NP_003892.2:p.(Ala492Thr)	NC_000010.10:g.72636326G>A	(Likely) benign	1 lab	8dae8cf471
10:6061845 IL2RA C>T	10	6061845	6061845	C	T	IL2RA	c.643G>A	NM_000417.2	NP_000408.1:p.(Val215Ile)	NC_000010.10:g.6061845C>T	(Likely) benign	1 lab	8daf8d2d73
4:106859539 NPNT C>T	4	106859539	106859539	C	T	NPNT	c.557C>T	NM_001184691.2	NP_001171620.1:p.(Pro186Leu)	NC_000004.11:g.106859539C>T	(Likely) benign	1 lab	8db4e1c44e
1:200633053 DDX59 A>G	1	200633053	200633053	A	G	DDX59	c.966T>C	NM_001031725.5	NP_001026895.2:p.(His322=)	NC_000001.10:g.200633053A>G	(Likely) benign	1 lab	8dc064d43c
10:81928753 ANXA11 G>C	10	81928753	81928753	G	C	ANXA11	c.533C>G	NM_001157.3	NP_001148.1:p.(Thr178Ser)	NC_000010.10:g.81928753G>C	VUS	1 lab	8dc73c6605
2:203378398 BMPR2 CT>C	2	203378398	203378404	CT	C	BMPR2	c.419-38del	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203378404del	(Likely) benign	1 lab	8dcb5a104b
4:129878170 SCLT1 A>G	4	129878170	129878170	A	G	SCLT1	c.1146+11T>C	NM_144643.4	NP_653244.2:p.?	NC_000004.11:g.129878170A>G	(Likely) benign	1 lab	8dcbd1efbb
10:13330353 PHYH G>A	10	13330353	13330353	G	A	PHYH	c.378+7C>T	NM_001037537.1	NP_001032626.1:p.?	NC_000010.10:g.13330353G>A	(Likely) benign	1 lab	8dccc88a10
19:10251824 DNMT1 G>A	19	10251824	10251824	G	A	DNMT1	c.3351C>T	NM_001130823.1	NP_001124295.1:p.(Asn1117=)	NC_000019.9:g.10251824G>A	(Likely) benign	1 lab	8dcd28d1ea
7:158704245 DYNC2I1 C>G	7	158704245	158704245	C	G	DYNC2I1	c.1465C>G	NM_018051.5	NP_060521.4:p.(Arg489Gly)	NC_000007.13:g.158704245C>G	(Likely) benign	1 lab	8dcd749886
1:210948793 KCNH1 T>C	1	210948793	210948793	T	C	KCNH1	c.2009A>G	NM_172362.3	NP_758872.1:p.(His670Arg)	NC_000001.10:g.210948793T>C	VUS	1 lab	8dd74c86fb
16:10273740 GRIN2A C>T	16	10273740	10273740	C	T	GRIN2A	c.414+115G>A	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.10273740C>T	(Likely) benign	1 lab	8dd765ef54
9:98691087 ERCC6L2 C>G	9	98691087	98691087	C	G	ERCC6L2				NC_000009.11:g.98691087C>G	(Likely) benign	1 lab	8dd98db89f
6:33626795 ITPR3 C>T	6	33626795	33626795	C	T	ITPR3	c.529-3C>T	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33626795C>T	(Likely) benign	1 lab	8dde0d5292
9:138656897 KCNT1 C>G	9	138656897	138656897	C	G	KCNT1	c.1056C>G	NM_020822.2	NP_065873.2:p.(Leu352=)	NC_000009.11:g.138656897C>G	(Likely) benign	1 lab	8ddee43b1e
20:62038018 KCNQ2 G>C	20	62038018	62038018	G	C	KCNQ2	c.2598C>G	NM_172107.4	NP_742105.1:p.(Gly866=)	NC_000020.10:g.62038018G>C	VUS	1 lab	8ddfd8fd6a
1:235945391 LYST C>T	1	235945391	235945391	C	T	LYST	c.4863-4G>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235945391C>T	(Likely) benign	1 lab	8de43f90a1
12:6442546 TNFRSF1A G>A	12	6442546	6442546	G	A	TNFRSF1A	c.459C>T	NM_001065.3	NP_001056.1:p.(Thr153=)	NC_000012.11:g.6442546G>A	(Likely) benign	1 lab	8de634b07e
9:109688186 ZNF462 T>G	9	109688186	109688186	T	G	ZNF462	c.1993T>G	NM_021224.6	NP_067047.4:p.(Leu665Val)	NC_000009.11:g.109688186T>G	VUS	1 lab	d33c0a0258
12:6440086 TNFRSF1A C>T	12	6440086	6440086	C	T	TNFRSF1A	c.558G>A	NM_001065.3	NP_001056.1:p.(Lys186=)	NC_000012.11:g.6440086C>T	(Likely) benign	1 lab	8de85f6b40
1:165737704 TMCO1 C>G	1	165737704	165737704	C	G	TMCO1	c.34+15G>C	NM_001256165.1	NP_001243094.1:p.?	NC_000001.10:g.165737704C>G	(Likely) benign	1 lab	d33e5667f3
2:32477661 NLRC4 CA>C	2	32477661	32477662	CA	C	NLRC4	c.88del	NM_001199138.2	NP_001186067.1:p.(Trp30GlyfsTer4)	NC_000002.11:g.32477662del	VUS	1 lab	8df06d5b17
19:45992592 RTN2 G>A	19	45992592	45992592	G	A	RTN2	c.1241+12C>T	NM_005619.5	NP_005610.1:p.?	NC_000019.9:g.45992592G>A	(Likely) benign	1 lab	8df32a9dc1
5:176831184 F12 C>G	5	176831184	176831184	C	G	F12	c.1018+13G>C	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176831184C>G	(Likely) benign	1 lab	8df3bfe6d4
6:31911232 C2 G>A	6	31911232	31911232	G	A	C2	c.1495G>A	NM_000063.4	NP_000054.2:p.(Asp499Asn)	NC_000006.11:g.31911232G>A	(Likely) benign	1 lab	8df4ce8b5d
2:174229568 CDCA7 A>C	2	174229568	174229568	A	C	CDCA7	c.745A>C	NM_031942.5	NP_114148.3:p.(Arg249=)	NC_000002.11:g.174229568A>C	(Likely) benign	1 lab	8df8702eb8
12:42862582 PRICKLE1 G>A	12	42862582	42862582	G	A	PRICKLE1	c.434C>T	NM_153026.3	NP_694571.2:p.(Ala145Val)	NC_000012.11:g.42862582G>A	(Likely) pathogenic	1 lab	8dff0258e2
2:179426319 TTN ATTAACTGGCAC>A	2	179426319	179426332	ATTAACTGGCAC	A	TTN	c.84529_84539del	NM_001267550.2	NP_001254479.2:p.(Val28177Ter)	NC_000002.11:g.179426322_179426332del	(Likely) pathogenic	1 lab	8dff3a581d
9:139417591 NOTCH1 G>A	9	139417591	139417591	G	A	NOTCH1	c.453C>T	NM_017617.5	NP_060087.3:p.(Asn151=)	NC_000009.11:g.139417591G>A	(Likely) benign	1 lab	8e02c678d3
14:90450906 TDP1 A>G	14	90450906	90450906	A	G	TDP1	c.931A>G	NM_018319.4	NP_060789.2:p.(Lys311Glu)	NC_000014.8:g.90450906A>G	(Likely) benign	1 lab	8e093d6242
11:9286536 DENND5A C>A	11	9286536	9286536	C	A	DENND5A	c.81G>T	NM_015213.4	NP_056028.2:p.(Glu27Asp)	NC_000011.9:g.9286536C>A	(Likely) benign	1 lab	8e1f6c3e38
17:41199913 BRCA1 T>C	17	41199913	41199913	T	C	BRCA1	c.5407-193A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199913T>C	(Likely) benign	1 lab	8e202579eb
10:112581350 RBM20 T>A	10	112581350	112581350	T	A	RBM20	c.2973T>A	NM_001134363.1	NP_001127835.1:p.(Cys991Ter)	NC_000010.10:g.112581350T>A	VUS	1 lab	8e202c4474
16:49671432 ZNF423 C>A	16	49671432	49671432	C	A	ZNF423	c.1631G>T	NM_015069.4	NP_055884.2:p.(Gly544Val)	NC_000016.9:g.49671432C>A	(Likely) benign	1 lab	8e24b18087
10:16941196 CUBN A>G	10	16941196	16941196	A	G	CUBN	c.8411-14T>C	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16941196A>G	(Likely) benign	1 lab	8e24ca56bb
5:89915021 ADGRV1 A>C	5	89915021	89915021	A	C	ADGRV1	c.453+23A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89915021A>C	(Likely) benign	1 lab	8e311a89ba
X:62855170 ARHGEF9 G>GA	X	62855170	62855175	G	GA	ARHGEF9	c.*2737dup	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62855175dup	(Likely) benign	1 lab	8e3160709d
13:39266484 FREM2 G>A	13	39266484	39266484	G	A	FREM2	c.5003G>A	NM_207361.6	NP_997244.4:p.(Arg1668His)	NC_000013.10:g.39266484G>A	(Likely) benign	1 lab	8e31fb004a
19:10940904 DNM2 T>G	19	10940904	10940904	T	G	DNM2	c.2393T>G	NM_001005360.2	NP_001005360.1:p.(Val798Gly)	NC_000019.9:g.10940904T>G	(Likely) benign	1 lab	8e3686eaaf
X:119575750 LAMP2 C>T	X	119575750	119575750	C	T	LAMP2	c.929-1G>A	NM_002294.2	NP_002285.1:p.?	NC_000023.10:g.119575750C>T	(Likely) pathogenic	1 lab	8e39639527
21:47548825 COL6A2 G>A	21	47548825	47548825	G	A	COL6A2	c.2470G>A	NM_058175.2	NP_478055.2:p.(Gly824Arg)	NC_000021.8:g.47548825G>A	(Likely) benign	1 lab	8e3ae84022
12:68553271 IFNG G>A	12	68553271	68553271	G	A	IFNG	c.114+11C>T	NM_000619.3	NP_000610.2:p.?	NC_000012.11:g.68553271G>A	(Likely) benign	1 lab	8e3f1fca99
16:3298998 MEFV T>C	16	3298998	3298998	T	C	MEFV	c.1267A>G	NM_000243.2	NP_000234.1:p.(Ile423Val)	NC_000016.9:g.3298998T>C	VUS	1 lab	8e3fa1b99c
12:8997841 A2ML1 G>T	12	8997841	8997841	G	T	A2ML1	c.1477-197G>T	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8997841G>T	(Likely) benign	1 lab	d33f64e591
16:2120484 TSC2 C>G	16	2120484	2120484	C	G	TSC2	c.1744C>G	NM_000548.5	NP_000539.2:p.(His582Asp)	NC_000016.9:g.2120484C>G	VUS	1 lab	d34036b506
17:61556429 ACE A>G	17	61556429	61556429	A	G	ACE	c.479A>G	NM_000789.4	NP_000780.1:p.(Asn160Ser)	NC_000017.10:g.61556429A>G	(Likely) benign	1 lab	8e41428549
18:47455915 MYO5B G>A	18	47455915	47455915	G	A	MYO5B	c.2057C>T	NM_001080467.3	NP_001073936.1:p.(Thr686Met)	NC_000018.9:g.47455915G>A	(Likely) pathogenic	1 lab	8e425b1fde
22:32193849 DEPDC5 G>A	22	32193849	32193849	G	A	DEPDC5	c.871+160G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32193849G>A	(Likely) benign	1 lab	8e46f36060
22:17688141 ADA2 A>G	22	17688141	17688141	A	G	ADA2	c.362T>C	NM_001282225.2	NP_001269154.1:p.(Met121Thr)	NC_000022.10:g.17688141A>G	(Likely) benign	1 lab	8e48446536
10:15617483 ITGA8 G>A	10	15617483	15617483	G	A	ITGA8	c.2478+5C>T	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15617483G>A	(Likely) benign	1 lab	8e49b6b00f
2:179431810 TTN T>C	2	179431810	179431810	T	C	TTN	c.52229A>G	NM_133432.3	NP_597676.3:p.(Lys17410Arg)	NC_000002.11:g.179431810T>C	VUS	1 lab	8e55a99261
12:6579806 VAMP1 G>T	12	6579806	6579806	G	T	VAMP1	n.38C>A	NR_123717.2		NC_000012.11:g.6579806G>T	(Likely) benign	1 lab	8e56e866fe
7:135307619 NUP205 C>T	7	135307619	135307619	C	T	NUP205	c.3351C>T	NM_001329434.2	NP_001316363.2:p.(Ala1117=)	NC_000007.13:g.135307619C>T	(Likely) benign	1 lab	8e588dc985
X:18525050 CDKL5 T>C	X	18525050	18525050	T	C	CDKL5	c.-162-5T>C	NM_001037343.1	NP_001032420.1:p.?	NC_000023.10:g.18525050T>C	(Likely) benign	1 lab	8e5ae99041
11:67759091 UNC93B1 C>G	11	67759091	67759091	C	G	UNC93B1	c.1720G>C	NM_030930.2	NP_112192.2:p.(Glu574Gln)	NC_000011.9:g.67759091C>G	(Likely) benign	1 lab	8ef6282231
16:8941652 PMM2 G>A	16	8941652	8941652	G	A	PMM2	c.711G>A	NM_000303.3	NP_000294.1:p.(Thr237=)	NC_000016.9:g.8941652G>A	(Likely) benign	1 lab	8e5e5fd144
1:235600911 TBCE C>G	1	235600911	235600911	C	G	TBCE	c.1116+122C>G	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235600911C>G	(Likely) benign	1 lab	8e5ea26cdb
10:60562829 BICC1 T>C	10	60562829	60562829	T	C	BICC1	c.2016-8T>C	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60562829T>C	(Likely) benign	1 lab	8e606398fc
14:67576670 GPHN C>T	14	67576670	67576670	C	T	GPHN	c.1294-187C>T	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67576670C>T	(Likely) benign	1 lab	8e6d3a9338
1:235929422 LYST G>A	1	235929422	235929422	G	A	LYST	c.6078C>T	NM_000081.3	NP_000072.2:p.(Tyr2026=)	NC_000001.10:g.235929422G>A	(Likely) benign	1 lab	8e6fd0aa21
2:50170882 NRXN1 A>G	2	50170882	50170882	A	G	NRXN1	c.4296T>C	NM_001135659.2	NP_001129131.1:p.(Asp1432=)	NC_000002.11:g.50170882A>G	(Likely) benign	1 lab	8e75e4e228
10:90773921 FAS C>A	10	90773921	90773921	C	A	FAS	c.722C>A	NM_000043.4	NP_000034.1:p.(Thr241Lys)	NC_000010.10:g.90773921C>A	(Likely) pathogenic	1 lab	8e77d1d8b4
2:51125819 NRXN1 AAATT>A	2	51125819	51125827	AAATT	A	NRXN1	c.832+23184_832+23187del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.51125824_51125827del	(Likely) benign	1 lab	8e77ef849e
14:102481634 DYNC1H1 G>A	14	102481634	102481634	G	A	DYNC1H1	c.7207G>A	NM_001376.5	NP_001367.2:p.(Asp2403Asn)	NC_000014.8:g.102481634G>A	(Likely) benign	1 lab	d341cee5fd
2:47168838 TTC7A G>C	2	47168838	47168838	G	C	TTC7A	c.158G>C	NM_020458.4	NP_065191.2:p.(Ser53Thr)	NC_000002.11:g.47168838G>C	(Likely) benign	1 lab	8e7e020a2e
18:19057249 GREB1L A>AT	18	19057249	19057250	A	AT	GREB1L	c.2488_2489insT	NM_001142966.2	NP_001136438.1:p.(Thr830IlefsTer10)	NC_000018.9:g.19057249_19057250insT	(Likely) pathogenic	1 lab	8e82089536
6:7231843 RREB1 G>A	6	7231843	7231843	G	A	RREB1	c.3511G>A	NM_001003699.4	NP_001003699.1:p.(Asp1171Asn)	NC_000006.11:g.7231843G>A	(Likely) benign	1 lab	8e85c1d950
3:25679805 TOP2B TAAAAAAAAA>T	3	25679805	25679843	TAAAAAAAAA	T	TOP2B	c.396-13_396-5del	NM_001330700.2	NP_001317629.1:p.?	NC_000003.11:g.25679835_25679843del	(Likely) benign	1 lab	8e88ecafb0
15:93499996 CHD2 G>A	15	93499996	93499996	G	A	CHD2	c.2000+117G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93499996G>A	(Likely) benign	1 lab	8e8a17a80e
2:166859332 SCN1A A>G	2	166859332	166859332	A	G	SCN1A	c.4003-69T>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166859332A>G	(Likely) benign	1 lab	8e8f82c89a
14:67648414 GPHN A>G	14	67648414	67648414	A	G	GPHN	c.*760A>G	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67648414A>G	(Likely) benign	1 lab	8ea1ab074e
12:15713057 PTPRO A>G	12	15713057	15713057	A	G	PTPRO	c.2628-70A>G	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15713057A>G	(Likely) benign	1 lab	8eac590aca
2:152459090 NEB T>C	2	152459090	152459090	T	C	NEB	c.13368+11A>G	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152459090T>C	(Likely) benign	1 lab	8eac6fd9b5
11:111782256 CRYAB G>T	11	111782256	111782256	G	T	CRYAB	c.193C>A	NM_001885.3	NP_001876.1:p.(Leu65Ile)	NC_000011.9:g.111782256G>T	VUS	1 lab	8ead2360ba
16:3293868 MEFV G>A	16	3293868	3293868	G	A	MEFV	c.1784C>T	NM_000243.2	NP_000234.1:p.(Ala595Val)	NC_000016.9:g.3293868G>A	VUS	1 lab	8eafccbd59
9:135863638 GFI1B C>T	9	135863638	135863638	C	T	GFI1B	c.293C>T	NM_004188.5	NP_004179.3:p.(Ser98Leu)	NC_000009.11:g.135863638C>T	(Likely) benign	1 lab	8eb044ae0c
15:48808491 FBN1 G>C	15	48808491	48808491	G	C	FBN1	c.1216C>G	NM_000138.4	NP_000129.3:p.(Leu406Val)	NC_000015.9:g.48808491G>C	(Likely) benign	1 lab	8eb3e0c2d5
6:45390733 RUNX2 G>C	6	45390733	45390733	G	C	RUNX2	c.423+39G>C	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45390733G>C	(Likely) benign	1 lab	8eb90fff0d
19:7705307 STXBP2 C>T	19	7705307	7705307	C	T	STXBP2	c.247-277C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7705307C>T	(Likely) benign	1 lab	8ebd306cfc
12:66747082 GRIP1 A>T	12	66747082	66747082	A	T	GRIP1	c.3003+115T>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66747082A>T	(Likely) benign	1 lab	8ec0928fda
9:77502188 TRPM6 A>T	9	77502188	77502188	A	T	TRPM6	c.-24T>A	NM_001177311.1	NP_001170782.1:p.?	NC_000009.11:g.77502188A>T	(Likely) benign	1 lab	8ec16813d4
X:154159914 F8 C>CT	X	154159914	154159915	C	CT	F8	c.2150_2151insA	NM_000132.3	NP_000123.1:p.(Asn718GlufsTer12)	NC_000023.10:g.154159914_154159915insT	(Likely) pathogenic	1 lab	8ec6100885
7:94040384 COL1A2 G>A	7	94040384	94040384	G	A	COL1A2	c.1268G>A	NM_000089.4	NP_000080.2:p.(Arg423His)	NC_000007.13:g.94040384G>A	VUS	1 lab	d34770b8cb
5:90004474 ADGRV1 C>T	5	90004474	90004474	C	T	ADGRV1	c.8731-159C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90004474C>T	(Likely) benign	1 lab	8eca2cc658
1:207644348 CR2 C>T	1	207644348	207644348	C	T	CR2	c.1409C>T	NM_001006658.2	NP_001006659.1:p.(Ala470Val)	NC_000001.10:g.207644348C>T	(Likely) benign	1 lab	8eca7a5058
21:47420769 COL6A1 A>G	21	47420769	47420769	A	G	COL6A1	c.1822+88A>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47420769A>G	(Likely) benign	1 lab	8ecbdb6e97
13:48528283 SUCLA2 C>T	13	48528283	48528283	C	T	SUCLA2	c.1099G>A	NM_003850.2	NP_003841.1:p.(Asp367Asn)	NC_000013.10:g.48528283C>T	(Likely) benign	1 lab	8ecc0718d1
3:64085159 PRICKLE2 C>A	3	64085159	64085159	C	A	PRICKLE2	c.2103G>T	NM_198859.4	NP_942559.1:p.(Leu701=)	NC_000003.11:g.64085159C>A	(Likely) benign	1 lab	8ecf91072f
8:41561446 ANK1 C>A	8	41561446	41561446	C	A	ANK1	c.2295+113G>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41561446C>A	(Likely) benign	1 lab	8ecfa37468
17:41063361 G6PC C>T	17	41063361	41063361	C	T	G6PC				NC_000017.10:g.41063361C>T	(Likely) benign	1 lab	8edccb8a62
15:80472479 FAH C>T	15	80472479	80472479	C	T	FAH	c.974C>T	NM_000137.4	NP_000128.1:p.(Thr325Met)	NC_000015.9:g.80472479C>T	VUS	1 lab	8ee20805e4
19:42402593 ARHGEF1 C>T	19	42402593	42402593	C	T	ARHGEF1	c.1169C>T	NM_199002.2	NP_945353.1:p.(Pro390Leu)	NC_000019.9:g.42402593C>T	(Likely) benign	1 lab	8ee5d9f787
19:35530389 SCN1B A>G	19	35530389	35530389	A	G	SCN1B	c.591-150A>G	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530389A>G	(Likely) benign	1 lab	8eeb24f5b7
7:70232795 AUTS2 A>T	7	70232795	70232795	A	T	AUTS2	c.1690-215A>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70232795A>T	(Likely) benign	1 lab	8ef4c5643f
7:106513238 PIK3CG T>C	7	106513238	106513238	T	C	PIK3CG	c.2142T>C	NM_002649.3	NP_002640.2:p.(Ala714=)	NC_000007.13:g.106513238T>C	(Likely) benign	1 lab	8ef837c7ad
X:70516853 NONO T>C	X	70516853	70516853	T	C	NONO	c.899T>C	NM_001145408.2	NP_001138880.1:p.(Met300Thr)	NC_000023.10:g.70516853T>C	VUS	1 lab	8ef8ec514e
1:114439025 AP4B1 A>G	1	114439025	114439025	A	G	AP4B1	c.1365T>C	NM_006594.5	NP_006585.2:p.(Tyr455=)	NC_000001.10:g.114439025A>G	(Likely) benign	1 lab	8efbab6ebb
16:3293149 MEFV G>T	16	3293149	3293149	G	T	MEFV	c.2338C>A	NM_000243.2	NP_000234.1:p.(Pro780Thr)	NC_000016.9:g.3293149G>T	VUS	1 lab	8efe8ca6b0
9:120476145 TLR4 A>C	9	120476145	120476145	A	C	TLR4				NC_000009.11:g.120476145A>C	(Likely) benign	1 lab	8f0292bbf7
8:100865857 VPS13B T>C	8	100865857	100865857	T	C	VPS13B	c.10315T>C	NM_017890.4	NP_060360.3:p.(Leu3439=)	NC_000008.10:g.100865857T>C	(Likely) benign	1 lab	8f04164404
12:124191327 TCTN2 C>T	12	124191327	124191327	C	T	TCTN2	c.1824C>T	NM_024809.5	NP_079085.2:p.(Ala608=)	NC_000012.11:g.124191327C>T	(Likely) benign	1 lab	8f0487fc46
2:228113106 COL4A3 G>T	2	228113106	228113106	G	T	COL4A3	c.469-53G>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228113106G>T	(Likely) benign	1 lab	8f0a0ce145
2:227964348 COL4A4 G>A	2	227964348	227964348	G	A	COL4A4	c.1087C>T	NM_000092.4	NP_000083.3:p.(Leu363Phe)	NC_000002.11:g.227964348G>A	(Likely) benign	1 lab	8f0e0ba011
18:29172968 TTR C>A	18	29172968	29172968	C	A	TTR	c.179C>A	NM_000371.3	NP_000362.1:p.(Thr60Asn)	NC_000018.9:g.29172968C>A	(Likely) pathogenic	1 lab	8f14b8bd6d
5:127714577 FBN2 T>C	5	127714577	127714577	T	C	FBN2	c.1610A>G	NM_001999.4	NP_001990.2:p.(Asp537Gly)	NC_000005.9:g.127714577T>C	VUS	1 lab	8f15396581
10:112595714 RBM20 G>A	10	112595714	112595714	G	A	RBM20	c.3662G>A	NM_001134363.1	NP_001127835.1:p.(Arg1221His)	NC_000010.10:g.112595714G>A	(Likely) benign	1 lab	8f185692b2
2:228128661 COL4A3 G>A	2	228128661	228128661	G	A	COL4A3	c.1315+1G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228128661G>A	(Likely) pathogenic	1 lab	8f19ff9e7f
13:100959530 PCCA C>T	13	100959530	100959530	C	T	PCCA	c.1353+16C>T	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100959530C>T	(Likely) benign	1 lab	8f1a656d48
16:81891694 PLCG2 AAAGCAGG>A	16	81891694	81891701	AAAGCAGG	A	PLCG2	c.338-173_338-167del	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81891695_81891701del	(Likely) benign	1 lab	8f1d3c6e18
2:31600072 XDH G>C	2	31600072	31600072	G	C	XDH	c.1274C>G	NM_000379.4	NP_000370.2:p.(Ser425Cys)	NC_000002.11:g.31600072G>C	VUS	1 lab	8f23dff3ef
11:22646685 FANCF G>A	11	22646685	22646685	G	A	FANCF	c.672C>T	NM_022725.3	NP_073562.1:p.(Pro224=)	NC_000011.9:g.22646685G>A	(Likely) benign	1 lab	8f24ee1da5
X:49845283 CLCN5 G>A	X	49845283	49845283	G	A	CLCN5	c.426G>A	NM_000084.5	NP_000075.1:p.(Met142Ile)	NC_000023.10:g.49845283G>A	(Likely) benign	1 lab	8f25512bb2
6:135606994 AHI1 C>T	6	135606994	135606994	C	T	AHI1	c.3589-209G>A	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135606994C>T	(Likely) benign	1 lab	8f275d401c
12:13724844 GRIN2B C>T	12	13724844	13724844	C	T	GRIN2B	c.2065G>A	NM_000834.4	NP_000825.2:p.(Gly689Ser)	NC_000012.11:g.13724844C>T	(Likely) pathogenic	1 lab	8f2950e8a8
1:202572112 SYT2 C>T	1	202572112	202572112	C	T	SYT2	c.465+15G>A	NM_177402.5	NP_796376.2:p.?	NC_000001.10:g.202572112C>T	(Likely) benign	1 lab	8f2c785d36
13:103288558 TPP2 A>G	13	103288558	103288558	A	G	TPP2	c.1510-16A>G	NM_001330588.2	NP_001317517.1:p.?	NC_000013.10:g.103288558A>G	(Likely) benign	1 lab	8f2cba6385
16:1258047 CACNA1H C>T	16	1258047	1258047	C	T	CACNA1H	c.3189C>T	NM_021098.3	NP_066921.2:p.(Asn1063=)	NC_000016.9:g.1258047C>T	(Likely) benign	1 lab	8f2dd81580
2:20173445 WDR35 A>G	2	20173445	20173445	A	G	WDR35	c.761T>C	NM_001006657.2	NP_001006658.1:p.(Met254Thr)	NC_000002.11:g.20173445A>G	(Likely) benign	1 lab	8f2f7ec0f8
9:120475468 TLR4 A>G	9	120475468	120475468	A	G	TLR4				NC_000009.11:g.120475468A>G	(Likely) benign	1 lab	913456edb8
10:97447252 TCTN3 G>A	10	97447252	97447252	G	A	TCTN3	c.627+97C>T	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97447252G>A	(Likely) benign	1 lab	8f30d5af4a
16:15813584 MYH11 C>G	16	15813584	15813584	C	G	MYH11	c.4975-14G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15813584C>G	(Likely) benign	1 lab	8f35d729e8
4:120072006 MYOZ2 C>T	4	120072006	120072006	C	T	MYOZ2	c.77-21C>T	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120072006C>T	(Likely) benign	1 lab	933b7aff75
2:44502974 SLC3A1 C>T	2	44502974	44502974	C	T	SLC3A1	c.300C>T	NM_000341.4	NP_000332.2:p.(Leu100=)	NC_000002.11:g.44502974C>T	(Likely) benign	1 lab	8f3733371b
19:36342450 NPHS1 C>T	19	36342450	36342450	C	T	NPHS1	c.183G>A	NM_004646.3	NP_004637.1:p.(Ala61=)	NC_000019.9:g.36342450C>T	(Likely) benign	1 lab	8f3b474ac4
15:91545293 VPS33B G>A	15	91545293	91545293	G	A	VPS33B	c.1392C>T	NM_018668.4	NP_061138.3:p.(Thr464=)	NC_000015.9:g.91545293G>A	(Likely) benign	1 lab	8f3e1b0bb0
16:1504438 CLCN7 G>A	16	1504438	1504438	G	A	CLCN7	c.1127C>T	NM_001287.6	NP_001278.1:p.(Pro376Leu)	NC_000016.9:g.1504438G>A	(Likely) pathogenic	1 lab	8f43bf2e77
1:172628511 FASLG C>T	1	172628511	172628511	C	T	FASLG	c.170C>T	NM_000639.1	NP_000630.1:p.(Pro57Leu)	NC_000001.10:g.172628511C>T	(Likely) benign	1 lab	8f451cbbd0
16:3297190 MEFV G>T	16	3297190	3297190	G	T	MEFV	c.1413C>A	NM_000243.2	NP_000234.1:p.(Tyr471Ter)	NC_000016.9:g.3297190G>T	(Likely) pathogenic	1 lab	8f4a89f559
15:89864258 POLG G>A	15	89864258	89864258	G	A	POLG	c.2735-15C>T	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89864258G>A	(Likely) benign	1 lab	8f4e1ee0a2
2:152425139 NEB A>G	2	152425139	152425139	A	G	NEB	c.17627T>C	NM_001164507.1	NP_001157979.1:p.(Leu5876Pro)	NC_000002.11:g.152425139A>G	(Likely) pathogenic	1 lab	8f4f01e7ed
20:10625832 JAG1 C>T	20	10625832	10625832	C	T	JAG1	c.2186G>A	NM_000214.3	NP_000205.1:p.(Cys729Tyr)	NC_000020.10:g.10625832C>T	(Likely) pathogenic	1 lab	8f57626551
2:179424629 TTN T>C	2	179424629	179424629	T	C	TTN	c.86230A>G	NM_001267550.1	NP_001254479.1:p.(Ile28744Val)	NC_000002.11:g.179424629T>C	VUS	1 lab	8f5b4eebbd
2:179431049 TTN C>A	2	179431049	179431049	C	A	TTN	c.52990G>T	NM_133432.3	NP_597676.3:p.(Val17664Leu)	NC_000002.11:g.179431049C>A	VUS	1 lab	8f619adf09
3:121981074 CASR G>A	3	121981074	121981074	G	A	CASR	c.1192G>A	NM_000388.4	NP_000379.3:p.(Asp398Asn)	NC_000003.11:g.121981074G>A	(Likely) benign	1 lab	8f67ff9bd5
16:88709869 CYBA C>T	16	88709869	88709869	C	T	CYBA				NC_000016.9:g.88709869C>T	(Likely) benign	1 lab	8f68d275f7
22:37902274 CARD10 C>T	22	37902274	37902274	C	T	CARD10	c.1308G>A	NM_014550.4	NP_055365.2:p.(Thr436=)	NC_000022.10:g.37902274C>T	(Likely) benign	1 lab	8f69086904
6:33646502 ITPR3 C>T	6	33646502	33646502	C	T	ITPR3	c.3858C>T	NM_002224.3	NP_002215.2:p.(Phe1286=)	NC_000006.11:g.33646502C>T	(Likely) benign	1 lab	8f6947690f
X:107858145 COL4A5 T>C	X	107858145	107858145	T	C	COL4A5	c.2400T>C	NM_000495.5	NP_000486.1:p.(Asp800=)	NC_000023.10:g.107858145T>C	(Likely) benign	1 lab	8f6978c31c
13:39263440 FREM2 G>T	13	39263440	39263440	G	T	FREM2	c.1959G>T	NM_207361.6	NP_997244.4:p.(Leu653=)	NC_000013.10:g.39263440G>T	(Likely) benign	1 lab	8f737f3299
12:110012661 MVK G>C	12	110012661	110012661	G	C	MVK	c.34G>C	NM_000431.2	NP_000422.1:p.(Gly12Arg)	NC_000012.11:g.110012661G>C	(Likely) pathogenic	1 lab	8f7398c44a
2:110881736 NPHP1 G>A	2	110881736	110881736	G	A	NPHP1	c.1930-96C>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110881736G>A	(Likely) benign	1 lab	8f78553524
6:151748664 RMND1 G>A	6	151748664	151748664	G	A	RMND1	c.783C>T	NM_017909.4	NP_060379.2:p.(Ile261=)	NC_000006.11:g.151748664G>A	(Likely) benign	1 lab	8f7869da33
18:47462657 MYO5B G>A	18	47462657	47462657	G	A	MYO5B	c.1968C>T	NM_001080467.3	NP_001073936.1:p.(Arg656=)	NC_000018.9:g.47462657G>A	(Likely) benign	1 lab	8f7b797ad3
16:3293337 MEFV C>T	16	3293337	3293337	C	T	MEFV	c.2150G>A	NM_000243.2	NP_000234.1:p.(Arg717His)	NC_000016.9:g.3293337C>T	VUS	1 lab	8f7cee655f
1:114454054 DCLRE1B C>G	1	114454054	114454054	C	G	DCLRE1B	c.840C>G	NM_022836.4	NP_073747.1:p.(Ser280=)	NC_000001.10:g.114454054C>G	(Likely) benign	1 lab	8f831dd01a
6:52285085 EFHC1 T>C	6	52285085	52285085	T	C	EFHC1				NC_000006.11:g.52285085T>C	(Likely) benign	1 lab	8f844878b4
9:138670870 KCNT1 C>CT	9	138670870	138670871	C	CT	KCNT1	c.2729+202_2729+203insT	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138670870_138670871insT	(Likely) benign	1 lab	8f86d4aed2
9:126136106 CRB2 A>T	9	126136106	126136106	A	T	CRB2	c.3296A>T	NM_173689.7	NP_775960.4:p.(His1099Leu)	NC_000009.11:g.126136106A>T	(Likely) benign	1 lab	8f87324751
10:15658569 ITGA8 C>T	10	15658569	15658569	C	T	ITGA8	c.1400-11G>A	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15658569C>T	(Likely) benign	1 lab	8f8d3698db
13:36006409 NBEA A>G	13	36006409	36006409	A	G	NBEA	c.6183A>G	NM_015678.4	NP_056493.3:p.(Gln2061=)	NC_000013.10:g.36006409A>G	(Likely) benign	1 lab	8f8e12ca7a
3:131188528 MRPL3 T>G	3	131188528	131188528	T	G	MRPL3	c.816+12A>C	NM_007208.4	NP_009139.1:p.?	NC_000003.11:g.131188528T>G	(Likely) benign	1 lab	d352e22793
1:218614627 TGFB2 A>G	1	218614627	218614627	A	G	TGFB2	c.1252A>G	NM_001135599.3	NP_001129071.1:p.(Ile418Val)	NC_000001.10:g.218614627A>G	VUS	1 lab	8f939ebb10
2:228564140 SLC19A3 C>G	2	228564140	228564140	C	G	SLC19A3	c.291G>C	NM_025243.4	NP_079519.1:p.(Leu97=)	NC_000002.11:g.228564140C>G	(Likely) benign	1 lab	8f93e60703
7:30693149 CRHR2 G>T	7	30693149	30693149	G	T	CRHR2	c.1121C>A	NM_001202481.1	NP_001189410.1:p.(Ala374Asp)	NC_000007.13:g.30693149G>T	(Likely) benign	1 lab	8f9873c9e8
22:36678782 MYH9 C>T	22	36678782	36678782	C	T	MYH9	c.5815G>A	NM_002473.5	NP_002464.1:p.(Ala1939Thr)	NC_000022.10:g.36678782C>T	(Likely) benign	1 lab	8f9a39c6f7
19:13445411 CACNA1A G>T	19	13445411	13445411	G	T	CACNA1A	c.1083-104C>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13445411G>T	(Likely) benign	1 lab	8f9b86d517
9:414816 DOCK8 A>G	9	414816	414816	A	G	DOCK8	c.3565A>G	NM_203447.3	NP_982272.2:p.(Ile1189Val)	NC_000009.11:g.414816A>G	(Likely) benign	1 lab	8f9bca10b1
17:41244679 BRCA1 G>A	17	41244679	41244679	G	A	BRCA1	c.2869C>T	NM_007294.3	NP_009225.1:p.(Gln957Ter)	NC_000017.10:g.41244679G>A	(Likely) pathogenic	1 lab	8f9cb0ab7b
10:99358589 HOGA1 T>A	10	99358589	99358589	T	A	HOGA1	c.269T>A	NM_138413.4	NP_612422.2:p.(Leu90His)	NC_000010.10:g.99358589T>A	VUS	1 lab	8f9e83c286
11:6637573 TPP1 G>A	11	6637573	6637573	G	A	TPP1	c.1048C>T	NM_000391.4	NP_000382.3:p.(Arg350Trp)	NC_000011.9:g.6637573G>A	(Likely) pathogenic	1 lab	8fa2fe61e3
11:65321235 LTBP3 G>A	11	65321235	65321235	G	A	LTBP3	c.801C>T	NM_001130144.2	NP_001123616.1:p.(His267=)	NC_000011.9:g.65321235G>A	(Likely) benign	1 lab	8fa60ce475
15:26861037 GABRB3 G>C	15	26861037	26861037	G	C	GABRB3	c.461+5424C>G	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26861037G>C	(Likely) benign	1 lab	8fc75f994c
5:94845333 SKIC3 T>C	5	94845333	94845333	T	C	SKIC3	c.2979A>G	NM_014639.3	NP_055454.1:p.(Leu993=)	NC_000005.9:g.94845333T>C	(Likely) benign	1 lab	8fac5a0391
14:30046643 PRKD1 T>C	14	30046643	30046643	T	C	PRKD1	c.2540A>G	NM_002742.3	NP_002733.2:p.(Asp847Gly)	NC_000014.8:g.30046643T>C	VUS	1 lab	d35639cfd7
10:15646357 ITGA8 A>G	10	15646357	15646357	A	G	ITGA8	c.1971-3T>C	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15646357A>G	(Likely) benign	1 lab	8fae237a58
9:135865239 GFI1B C>A	9	135865239	135865239	C	A	GFI1B	c.759C>A	NM_004188.5	NP_004179.3:p.(Cys253Ter)	NC_000009.11:g.135865239C>A	(Likely) pathogenic	1 lab	8fbe3fc672
2:179401956 TTN G>A	2	179401956	179401956	G	A	TTN	c.73060C>T	NM_133432.3	NP_597676.3:p.(Pro24354Ser)	NC_000002.11:g.179401956G>A	VUS	1 lab	8fc3a21eed
5:79026370 CMYA5 T>G	5	79026370	79026370	T	G	CMYA5	c.1782T>G	NM_153610.5	NP_705838.3:p.(Phe594Leu)	NC_000005.9:g.79026370T>G	(Likely) benign	1 lab	8fc9cadccb
14:64884707 MTHFD1 A>G	14	64884707	64884707	A	G	MTHFD1	c.580A>G	NM_005956.4	NP_005947.3:p.(Thr194Ala)	NC_000014.8:g.64884707A>G	(Likely) benign	1 lab	8fcfe8f6e9
5:52358761 ITGA2 TA>T	5	52358761	52358774	TA	T	ITGA2	c.1602+15del	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52358774del	(Likely) benign	1 lab	8fd4153e3e
12:52307020 ACVRL1 C>T	12	52307020	52307020	C	T	ACVRL1	c.199C>T	NM_000020.2	NP_000011.2:p.(Arg67Trp)	NC_000012.11:g.52307020C>T	(Likely) pathogenic	1 lab	8fd4163afe
9:125143707 PTGS1 A>C	9	125143707	125143707	A	C	PTGS1	c.554A>C	NM_000962.4	NP_000953.2:p.(Lys185Thr)	NC_000009.11:g.125143707A>C	(Likely) benign	1 lab	8fd5d221c0
7:135301856 NUP205 A>G	7	135301856	135301856	A	G	NUP205	c.3551A>G	NM_015135.2	NP_055950.1:p.(Asn1184Ser)	NC_000007.13:g.135301856A>G	(Likely) benign	1 lab	8fdd1c2003
X:24544322 PDK3 G>A	X	24544322	24544322	G	A	PDK3	c.681G>A	NM_001142386.3	NP_001135858.1:p.(Ala227=)	NC_000023.10:g.24544322G>A	(Likely) benign	1 lab	8fe579e5a7
11:2604716 KCNQ1 G>A	11	2604716	2604716	G	A	KCNQ1	c.973G>A	NM_000218.2	NP_000209.2:p.(Gly325Arg)	NC_000011.9:g.2604716G>A	(Likely) pathogenic	1 lab	8fe59e4eaa
22:40813027 MRTFA C>T	22	40813027	40813027	C	T	MRTFA	c.2541G>A	NM_001282662.3	NP_001269591.2:p.(Gln847=)	NC_000022.10:g.40813027C>T	(Likely) benign	1 lab	8feaf6617f
13:32912316 BRCA2 T>C	13	32912316	32912316	T	C	BRCA2	c.3824T>C	NM_000059.3	NP_000050.2:p.(Ile1275Thr)	NC_000013.10:g.32912316T>C	(Likely) benign	1 lab	8fedfb0654
16:3304461 MEFV G>GGGCGTTTCTGCGCAGC	16	3304461	3304462	G	GGGCGTTTCTGCGCAGC	MEFV	c.606_607insGCTGCGCAGAAACGCC	NM_000243.2	NP_000234.1:p.(Leu203AlafsTer44)	NC_000016.9:g.3304461_3304462insGGCGTTTCTGCGCAGC	(Likely) pathogenic	1 lab	8ff5355019
4:9892246 SLC2A9 C>T	4	9892246	9892246	C	T	SLC2A9	c.1203G>A	NM_020041.3	NP_064425.2:p.(Thr401=)	NC_000004.11:g.9892246C>T	(Likely) benign	1 lab	8ff56903fc
16:2158944 PKD1 C>CAA	16	2158944	2158945	C	CAA	PKD1	c.6223_6224insTT	NM_001009944.2	NP_001009944.2:p.(Arg2075LeufsTer42)	NC_000016.9:g.2158944_2158945insAA	(Likely) pathogenic	1 lab	8ff914e869
12:2224475 CACNA1C C>G	12	2224475	2224475	C	G	CACNA1C	c.135C>G	NM_001167623.2	NP_001161095.1:p.(Thr45=)	NC_000012.11:g.2224475C>G	(Likely) benign	1 lab	8ffd3fc1cf
12:53452917 TNS2 T>C	12	53452917	53452917	T	C	TNS2	c.1522T>C	NM_015319.2	NP_056134.2:p.(Ser508Pro)	NC_000012.11:g.53452917T>C	(Likely) benign	1 lab	8fff36b87c
X:41402068 CASK T>C	X	41402068	41402068	T	C	CASK	c.2040-9A>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41402068T>C	(Likely) benign	1 lab	9001722189
1:236978983 MTR C>T	1	236978983	236978983	C	T	MTR	c.669+20C>T	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.236978983C>T	(Likely) benign	1 lab	90053e302e
1:24123348 GALE C>T	1	24123348	24123348	C	T	GALE	c.709+18G>A	NM_000403.4	NP_000394.2:p.?	NC_000001.10:g.24123348C>T	(Likely) benign	1 lab	90056c4222
9:137623458 COL5A1 G>A	9	137623458	137623458	G	A	COL5A1	c.1281G>A	NM_000093.4	NP_000084.3:p.(Pro427=)	NC_000009.11:g.137623458G>A	(Likely) benign	1 lab	900966bbc8
1:11182192 MTOR C>G	1	11182192	11182192	C	G	MTOR	c.6663-9G>C	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11182192C>G	(Likely) benign	1 lab	900e6f9669
4:187549473 FAT1 C>T	4	187549473	187549473	C	T	FAT1	c.4645G>A	NM_005245.4	NP_005236.2:p.(Val1549Met)	NC_000004.11:g.187549473C>T	(Likely) benign	1 lab	90100db2c6
19:2114221 AP3D1 G>C	19	2114221	2114221	G	C	AP3D1	c.2504C>G	NM_001261826.3	NP_001248755.1:p.(Pro835Arg)	NC_000019.9:g.2114221G>C	(Likely) benign	1 lab	9012fbea8e
6:110106925 FIG4 A>G	6	110106925	110106925	A	G	FIG4	c.1949-580A>G	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110106925A>G	(Likely) benign	1 lab	9014f9aa9d
12:110017730 MVK T>C	12	110017730	110017730	T	C	MVK	c.350T>C	NM_000431.2	NP_000422.1:p.(Leu117Pro)	NC_000012.11:g.110017730T>C	(Likely) pathogenic	1 lab	901ecc041d
14:23901687 MYH7 C>T	14	23901687	23901687	C	T	MYH7	c.530+1G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23901687C>T	VUS	1 lab	902409f2de
17:5418230 NLRP1 C>T	17	5418230	5418230	C	T	NLRP1	c.4266G>A	NM_033004.4	NP_127497.1:p.(Arg1422=)	NC_000017.10:g.5418230C>T	(Likely) benign	1 lab	902ad575ef
16:2161744 PKD1 G>A	16	2161744	2161744	G	A	PKD1	c.3424C>T	NM_001009944.2	NP_001009944.2:p.(Arg1142Trp)	NC_000016.9:g.2161744G>A	(Likely) benign	1 lab	9030111db0
1:237550655 RYR2 C>T	1	237550655	237550655	C	T	RYR2	c.651C>T	NM_001035.3	NP_001026.2:p.(Ile217=)	NC_000001.10:g.237550655C>T	(Likely) benign	1 lab	9032d4ea03
3:38523976 ACVR2B G>A	3	38523976	38523976	G	A	ACVR2B	c.1269G>A	NM_001106.4	NP_001097.2:p.(Ser423=)	NC_000003.11:g.38523976G>A	(Likely) benign	1 lab	903463e163
14:35182348 CFL2 GAA>G	14	35182348	35182360	GAA	G	CFL2	c.312-8_312-7del	NM_138638.5	NP_619579.1:p.?	NC_000014.8:g.35182359_35182360del	(Likely) benign	1 lab	90347a4776
10:99361690 HOGA1 G>A	10	99361690	99361690	G	A	HOGA1	c.777G>A	NM_138413.4	NP_612422.2:p.(Thr259=)	NC_000010.10:g.99361690G>A	(Likely) benign	1 lab	90396ff85e
13:103309445 TPP2 A>G	13	103309445	103309445	A	G	TPP2	c.2992A>G	NM_003291.4	NP_003282.2:p.(Thr998Ala)	NC_000013.10:g.103309445A>G	(Likely) benign	1 lab	90408cb982
22:32201020 DEPDC5 A>G	22	32201020	32201020	A	G	DEPDC5	c.1217+119A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32201020A>G	(Likely) benign	1 lab	904415b72f
1:113636134 LRIG2 A>T	1	113636134	113636134	A	T	LRIG2	c.463A>T	NM_014813.2	NP_055628.1:p.(Ile155Leu)	NC_000001.10:g.113636134A>T	(Likely) benign	1 lab	90442c2bda
2:179417062 TTN A>G	2	179417062	179417062	A	G	TTN	c.90565T>C	NM_001267550.1	NP_001254479.1:p.(Leu30189=)	NC_000002.11:g.179417062A>G	(Likely) benign	1 lab	9045503c98
3:46480854 LTF G>A	3	46480854	46480854	G	A	LTF	c.1841C>T	NM_002343.6	NP_002334.2:p.(Pro614Leu)	NC_000003.11:g.46480854G>A	(Likely) benign	1 lab	904696d03f
2:109380456 RANBP2 A>T	2	109380456	109380456	A	T	RANBP2	c.3461A>T	NM_006267.4	NP_006258.3:p.(His1154Leu)	NC_000002.11:g.109380456A>T	(Likely) benign	1 lab	904c16f683
5:1217006 SLC6A19 G>A	5	1217006	1217006	G	A	SLC6A19	c.1119G>A	NM_001003841.3	NP_001003841.1:p.(Ala373=)	NC_000005.9:g.1217006G>A	(Likely) benign	1 lab	d359fda5e6
4:126389827 FAT4 C>T	4	126389827	126389827	C	T	FAT4				NC_000004.11:g.126389827C>T	(Likely) benign	1 lab	904f6a148d
4:77100749 SCARB2 C>T	4	77100749	77100749	C	T	SCARB2	c.533G>A	NM_005506.4	NP_005497.1:p.(Trp178Ter)	NC_000004.11:g.77100749C>T	(Likely) pathogenic	1 lab	9052f2f47b
16:2153370 PKD1 G>A	16	2153370	2153370	G	A	PKD1	c.8688C>T	NM_001009944.2	NP_001009944.2:p.(Ser2896=)	NC_000016.9:g.2153370G>A	(Likely) benign	1 lab	9053345674
7:79082663 MAGI2 C>T	7	79082663	79082663	C	T	MAGI2	c.-27G>A	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.79082663C>T	(Likely) benign	1 lab	9053c9b254
6:135759417 AHI1 C>T	6	135759417	135759417	C	T	AHI1	c.2036+96G>A	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135759417C>T	(Likely) benign	1 lab	90597dbad7
4:79321771 FRAS1 T>TTC	4	79321771	79321772	T	TTC	FRAS1	c.3976-117_3976-116insTC	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79321771_79321772insTC	(Likely) benign	1 lab	905b14c32d
3:8787317 CAV3 C>T	3	8787317	8787317	C	T	CAV3	c.220C>T	NM_033337.2	NP_203123.1:p.(Arg74Cys)	NC_000003.11:g.8787317C>T	VUS	1 lab	905b5a35ba
6:39869783 DAAM2 G>T	6	39869783	39869783	G	T	DAAM2	c.3177G>T	NM_001201427.2	NP_001188356.1:p.(Arg1059=)	NC_000006.11:g.39869783G>T	(Likely) benign	1 lab	90622c8f7d
1:228407010 OBSCN C>T	1	228407010	228407010	C	T	OBSCN	c.2654-15C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228407010C>T	(Likely) benign	1 lab	906966d38b
2:166872240 SCN1A G>C	2	166872240	166872240	G	C	SCN1A	c.3430-3C>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166872240G>C	(Likely) pathogenic	1 lab	906dc63c8f
8:102570779 GRHL2 C>T	8	102570779	102570779	C	T	GRHL2	c.417C>T	NM_024915.4	NP_079191.2:p.(Tyr139=)	NC_000008.10:g.102570779C>T	(Likely) benign	1 lab	9072dd9cd4
12:53445677 TNS2 T>C	12	53445677	53445677	T	C	TNS2	c.144T>C	NM_015319.2	NP_056134.2:p.(Val48=)	NC_000012.11:g.53445677T>C	(Likely) benign	1 lab	9073941e15
2:31596762 XDH G>A	2	31596762	31596762	G	A	XDH	c.1663C>T	NM_000379.4	NP_000370.2:p.(Pro555Ser)	NC_000002.11:g.31596762G>A	(Likely) benign	1 lab	90745791ac
5:125895119 ALDH7A1 G>T	5	125895119	125895119	G	T	ALDH7A1	c.914-93C>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125895119G>T	(Likely) benign	1 lab	9079d4a065
15:41289713 INO80 C>T	15	41289713	41289713	C	T	INO80	c.3570+14G>A	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41289713C>T	(Likely) benign	1 lab	907eaeae82
4:2834701 SH3BP2 C>T	4	2834701	2834701	C	T	SH3BP2	c.1573-16C>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2834701C>T	(Likely) benign	1 lab	907f7726cd
17:56352896 MPO G>A	17	56352896	56352896	G	A	MPO	c.1365+7C>T	NM_000250.1	NP_000241.1:p.?	NC_000017.10:g.56352896G>A	(Likely) benign	1 lab	9081554230
11:117870297 IL10RA A>T	11	117870297	117870297	A	T	IL10RA	c.1678A>T	NM_001558.3	NP_001549.2:p.(Ser560Cys)	NC_000011.9:g.117870297A>T	(Likely) benign	1 lab	9088035b80
11:4045207 STIM1 G>A	11	4045207	4045207	G	A	STIM1	c.375G>A	NM_001277961.1	NP_001264890.1:p.(Lys125=)	NC_000011.9:g.4045207G>A	(Likely) benign	1 lab	908d7970c3
21:34925014 SON G>A	21	34925014	34925014	G	A	SON	c.3477G>A	NM_138927.2	NP_620305.2:p.(Pro1159=)	NC_000021.8:g.34925014G>A	(Likely) benign	1 lab	908db31495
1:160319881 NCSTN A>G	1	160319881	160319881	A	G	NCSTN	c.437-14A>G	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160319881A>G	(Likely) benign	1 lab	9092cfc217
1:156052975 LMNA G>A	1	156052975	156052975	G	A	LMNA	c.-319G>A	NM_001282625.1	NP_001269554.1:p.?	NC_000001.10:g.156052975G>A	VUS	1 lab	909575578d
X:153278798 IRAK1 C>T	X	153278798	153278798	C	T	IRAK1	c.1626G>A	NM_001569.4	NP_001560.2:p.(Pro542=)	NC_000023.10:g.153278798C>T	(Likely) benign	1 lab	90967c6883
12:56095367 ITGA7 CT>C	12	56095367	56095382	CT	C	ITGA7	c.415-430del	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56095382del	(Likely) benign	1 lab	9096a8abde
8:102586059 GRHL2 G>A	8	102586059	102586059	G	A	GRHL2	c.843+7G>A	NM_001330593.2	NP_001317522.1:p.?	NC_000008.10:g.102586059G>A	(Likely) benign	1 lab	909aad5b1c
3:48508989 TREX1 C>G	3	48508989	48508989	C	G	TREX1	c.935C>G	NM_033629.6	NP_338599.1:p.(Pro312Arg)	NC_000003.11:g.48508989C>G	VUS	1 lab	d35a5b78e1
X:44935926 KDM6A T>C	X	44935926	44935926	T	C	KDM6A	c.2859-16T>C	NM_001291415.1	NP_001278344.1:p.?	NC_000023.10:g.44935926T>C	(Likely) benign	1 lab	90a826323a
12:98926912 TMPO T>G	12	98926912	98926912	T	G	TMPO	c.877T>G	NM_003276.2	NP_003267.1:p.(Ser293Ala)	NC_000012.11:g.98926912T>G	(Likely) benign	1 lab	90a93d7f79
17:7127402 ACADVL T>A	17	7127402	7127402	T	A	ACADVL	c.1206+14T>A	NM_001270448.1	NP_001257377.1:p.?	NC_000017.10:g.7127402T>A	(Likely) benign	1 lab	90b76744e2
5:156186326 SGCD C>T	5	156186326	156186326	C	T	SGCD	c.798C>T	NM_000337.5	NP_000328.2:p.(Cys266=)	NC_000005.9:g.156186326C>T	(Likely) benign	1 lab	90b84f9c9b
10:69881212 MYPN T>C	10	69881212	69881212	T	C	MYPN	c.17T>C	NM_032578.3	NP_115967.2:p.(Ile6Thr)	NC_000010.10:g.69881212T>C	(Likely) benign	1 lab	90b86b24d8
1:40559743 PPT1 T>C	1	40559743	40559743	T	C	PPT1	c.125-1564A>G	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40559743T>C	(Likely) benign	1 lab	90c5a60eea
3:49138124 QARS1 A>G	3	49138124	49138124	A	G	QARS1	c.877-17T>C	NM_005051.3	NP_005042.1:p.?	NC_000003.11:g.49138124A>G	(Likely) benign	1 lab	90ceaa4cd5
16:3293173 MEFV T>C	16	3293173	3293173	T	C	MEFV	c.2314A>G	NM_000243.2	NP_000234.1:p.(Ile772Val)	NC_000016.9:g.3293173T>C	VUS	1 lab	90cfab436d
16:27720043 KATNIP G>A	16	27720043	27720043	G	A	KATNIP	c.1407G>A	NM_015202.3	NP_056017.3:p.(Arg469=)	NC_000016.9:g.27720043G>A	(Likely) benign	1 lab	90d0e86de7
17:8138574 CTC1 C>A	17	8138574	8138574	C	A	CTC1	c.1236G>T	NM_025099.6	NP_079375.3:p.(Val412=)	NC_000017.10:g.8138574C>A	(Likely) benign	1 lab	90d21eedbd
16:1258002 CACNA1H C>G	16	1258002	1258002	C	G	CACNA1H	c.3155-11C>G	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1258002C>G	(Likely) benign	1 lab	90d4374541
12:66935833 GRIP1 A>G	12	66935833	66935833	A	G	GRIP1	c.137-103T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66935833A>G	(Likely) benign	1 lab	90d65b21fa
8:100168775 VPS13B A>G	8	100168775	100168775	A	G	VPS13B	c.2014-2A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100168775A>G	(Likely) pathogenic	1 lab	90d6f32e12
X:47464562 SYN1 A>G	X	47464562	47464562	A	G	SYN1	c.684+60T>C	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47464562A>G	(Likely) benign	1 lab	90e358b652
9:140128923 SLC34A3 C>T	9	140128923	140128923	C	T	SLC34A3	c.1149C>T	NM_080877.2	NP_543153.1:p.(Ala383=)	NC_000009.11:g.140128923C>T	(Likely) benign	1 lab	90e74483fa
1:17328776 ATP13A2 C>T	1	17328776	17328776	C	T	ATP13A2	c.635+15G>A	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17328776C>T	(Likely) benign	1 lab	d36203a42d
2:166892448 SCN1A A>T	2	166892448	166892448	A	T	SCN1A	c.3429+110T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166892448A>T	(Likely) benign	1 lab	90e91a185d
2:166911147 SCN1A C>G	2	166911147	166911147	C	G	SCN1A	c.602+1G>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166911147C>G	(Likely) pathogenic	1 lab	90eaca08f0
16:3293567 MEFV G>C	16	3293567	3293567	G	C	MEFV	c.1920C>G	NM_000243.2	NP_000234.1:p.(Ile640Met)	NC_000016.9:g.3293567G>C	VUS	1 lab	90fbf31619
11:118926058 HYOU1 G>A	11	118926058	118926058	G	A	HYOU1	c.265-7C>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118926058G>A	(Likely) benign	1 lab	90fe6c106f
9:131671611 LRRC8A C>T	9	131671611	131671611	C	T	LRRC8A	c.2157+11C>T	NM_019594.3	NP_062540.2:p.?	NC_000009.11:g.131671611C>T	(Likely) benign	1 lab	91002cc56f
1:235878604 LYST G>T	1	235878604	235878604	G	T	LYST	c.9681C>A	NM_000081.3	NP_000072.2:p.(Pro3227=)	NC_000001.10:g.235878604G>T	(Likely) benign	1 lab	9106dcb129
9:137623401 COL5A1 G>C	9	137623401	137623401	G	C	COL5A1	c.1224G>C	NM_000093.4	NP_000084.3:p.(Thr408=)	NC_000009.11:g.137623401G>C	(Likely) benign	1 lab	9107d524e4
11:126162511 TIRAP G>A	11	126162511	126162511	G	A	TIRAP	c.207G>A	NM_001039661.1	NP_001034750.1:p.(Leu69=)	NC_000011.9:g.126162511G>A	(Likely) benign	1 lab	91116d0605
9:37436632 GRHPR C>CCT	9	37436632	37436649	C	CCT	GRHPR	c.866-10_866-9dup	NM_012203.2	NP_036335.1:p.?	NC_000009.11:g.37436648_37436649dup	(Likely) benign	1 lab	9112cca842
1:9783210 PIK3CD C>T	1	9783210	9783210	C	T	PIK3CD	c.2454C>T	NM_005026.3	NP_005017.3:p.(Thr818=)	NC_000001.10:g.9783210C>T	(Likely) benign	1 lab	9113d72f2f
2:179398949 TTN T>G	2	179398949	179398949	T	G	TTN	c.75573A>C	NM_133432.3	NP_597676.3:p.(Ala25191=)	NC_000002.11:g.179398949T>G	(Likely) benign	1 lab	91169a8528
6:33400583 SYNGAP1 G>C	6	33400583	33400583	G	C	SYNGAP1	c.509G>C	NM_006772.3	NP_006763.2:p.(Arg170Pro)	NC_000006.11:g.33400583G>C	(Likely) pathogenic	1 lab	9119cbb315
2:166892584 SCN1A C>T	2	166892584	166892584	C	T	SCN1A	c.3403G>A	NM_001165963.3	NP_001159435.1:p.(Glu1135Lys)	NC_000002.11:g.166892584C>T	(Likely) benign	1 lab	911a27dfcc
16:5123270 ALG1 C>A	16	5123270	5123270	C	A	ALG1	c.390+13C>A	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5123270C>A	(Likely) benign	1 lab	91223c17fd
X:39922194 BCOR T>C	X	39922194	39922194	T	C	BCOR	c.3876A>G	NM_017745.6	NP_060215.4:p.(Glu1292=)	NC_000023.10:g.39922194T>C	(Likely) benign	1 lab	9123fb391c
13:32913236 BRCA2 AC>A	13	32913236	32913238	AC	A	BRCA2	c.4746del	NM_000059.4	NP_000050.3:p.(Ile1583LeufsTer34)	NC_000013.10:g.32913238del	(Likely) pathogenic	1 lab	912667a9ef
2:51150039 NRXN1 T>C	2	51150039	51150039	T	C	NRXN1	c.791-214A>G	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.51150039T>C	(Likely) benign	1 lab	912d5991ed
5:169129408 DOCK2 G>A	5	169129408	169129408	G	A	DOCK2	c.1360G>A	NM_004946.3	NP_004937.1:p.(Ala454Thr)	NC_000005.9:g.169129408G>A	(Likely) benign	1 lab	912de2dd08
15:48714220 FBN1 C>T	15	48714220	48714220	C	T	FBN1	c.7499G>A	NM_000138.4	NP_000129.3:p.(Cys2500Tyr)	NC_000015.9:g.48714220C>T	(Likely) pathogenic	1 lab	91370789e7
1:196706689 CFH G>A	1	196706689	196706689	G	A	CFH	c.2681G>A	NM_000186.3	NP_000177.2:p.(Gly894Glu)	NC_000001.10:g.196706689G>A	VUS	1 lab	913bcff397
X:13764945 OFD1 CA>C	X	13764945	13764954	CA	C	OFD1	c.710del	NM_003611.3	NP_003602.1:p.(Lys237SerfsTer6)	NC_000023.10:g.13764954del	(Likely) pathogenic	1 lab	913c3de85d
5:90021353 ADGRV1 T>A	5	90021353	90021353	T	A	ADGRV1	c.10054-13T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021353T>A	(Likely) benign	1 lab	913ce9a3e4
8:2000398 MYOM2 C>T	8	2000398	2000398	C	T	MYOM2	c.230C>T	NM_003970.4	NP_003961.3:p.(Thr77Met)	NC_000008.10:g.2000398C>T	(Likely) benign	1 lab	913e07a7d8
13:52518429 ATP7B T>C	13	52518429	52518429	T	C	ATP7B	c.3061-2A>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52518429T>C	(Likely) pathogenic	1 lab	913e59df2f
3:14173115 TMEM43 G>A	3	14173115	14173115	G	A	TMEM43	c.333G>A	NM_024334.2	NP_077310.1:p.(Pro111=)	NC_000003.11:g.14173115G>A	VUS	1 lab	91400d3325
16:10031881 GRIN2A G>A	16	10031881	10031881	G	A	GRIN2A	c.942C>T	NM_000833.5	NP_000824.1:p.(Pro314=)	NC_000016.9:g.10031881G>A	(Likely) benign	1 lab	9140e526da
1:247588058 NLRP3 C>T	1	247588058	247588058	C	T	NLRP3	c.1307C>T	NM_001243133.2	NP_001230062.1:p.(Thr436Ile)	NC_000001.10:g.247588058C>T	(Likely) pathogenic	1 lab	91446f7005
4:114278947 ANK2 G>A	4	114278947	114278947	G	A	ANK2	c.9173G>A	NM_001148.4	NP_001139.3:p.(Arg3058His)	NC_000004.11:g.114278947G>A	VUS	1 lab	9147c4c894
14:23866744 MYH6 C>G	14	23866744	23866744	C	G	MYH6	c.1962+8G>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23866744C>G	(Likely) benign	1 lab	914a693261
2:47205920 TTC7A T>C	2	47205920	47205920	T	C	TTC7A	c.649-11T>C	NM_020458.4	NP_065191.2:p.?	NC_000002.11:g.47205920T>C	(Likely) benign	1 lab	91573b312e
3:78796013 ROBO1 G>A	3	78796013	78796013	G	A	ROBO1	c.537C>T	NM_002941.4	NP_002932.1:p.(Val179=)	NC_000003.11:g.78796013G>A	(Likely) benign	1 lab	91582102e1
15:48902998 FBN1 A>G	15	48902998	48902998	A	G	FBN1	c.273T>C	NM_000138.4	NP_000129.3:p.(Asp91=)	NC_000015.9:g.48902998A>G	(Likely) benign	1 lab	915a70abb1
9:127244998 NR5A1 A>C	9	127244998	127244998	A	C	NR5A1	c.*39T>G	NM_004959.5	NP_004950.2:p.?	NC_000009.11:g.127244998A>C	(Likely) benign	1 lab	915bbebb84
4:187006022 TLR3 C>T	4	187006022	187006022	C	T	TLR3	c.2710C>T	NM_003265.2	NP_003256.1:p.(His904Tyr)	NC_000004.11:g.187006022C>T	(Likely) benign	1 lab	915cf4d4f6
6:33399656 SYNGAP1 C>T	6	33399656	33399656	C	T	SYNGAP1	c.296-282C>T	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33399656C>T	(Likely) benign	1 lab	915ffb667d
8:6335137 MCPH1 C>G	8	6335137	6335137	C	G	MCPH1	c.1958C>G	NM_024596.5	NP_078872.3:p.(Thr653Arg)	NC_000008.10:g.6335137C>G	VUS	1 lab	d36a021caa
13:32914090 BRCA2 TACAG>T	13	32914090	32914098	TACAG	T	BRCA2	c.5603_5606del	NM_000059.4	NP_000050.3:p.(Asp1868ValfsTer5)	NC_000013.10:g.32914095_32914098del	(Likely) pathogenic	1 lab	d36d6f344b
14:64469514 SYNE2 A>G	14	64469514	64469514	A	G	SYNE2	c.3863A>G	NM_182914.2	NP_878918.2:p.(Glu1288Gly)	NC_000014.8:g.64469514A>G	VUS	1 lab	9162594b41
11:1264081 MUC5B A>G	11	1264081	1264081	A	G	MUC5B	c.5971A>G	NM_002458.3	NP_002449.2:p.(Thr1991Ala)	NC_000011.9:g.1264081A>G	(Likely) benign	1 lab	9166c2d3db
15:59453417 MYO1E C>T	15	59453417	59453417	C	T	MYO1E	c.2640G>A	NM_004998.3	NP_004989.2:p.(Lys880=)	NC_000015.9:g.59453417C>T	(Likely) benign	1 lab	9168525ff6
21:34925819 SON C>G	21	34925819	34925819	C	G	SON	c.4282C>G	NM_032195.3	NP_115571.3:p.(Gln1428Glu)	NC_000021.8:g.34925819C>G	VUS	1 lab	d36eb42d34
19:2113359 AP3D1 G>A	19	2113359	2113359	G	A	AP3D1	c.2655C>T	NM_001261826.3	NP_001248755.1:p.(Pro885=)	NC_000019.9:g.2113359G>A	(Likely) benign	1 lab	9168d55cf0
X:119589342 LAMP2 T>G	X	119589342	119589342	T	G	LAMP2	c.267A>C	NM_002294.2	NP_002285.1:p.(Ala89=)	NC_000023.10:g.119589342T>G	(Likely) benign	1 lab	916fb594d6
12:98925585 TMPO T>C	12	98925585	98925585	T	C	TMPO	c.534T>C	NM_001032283.2	NP_001027454.1:p.(Asn178=)	NC_000012.11:g.98925585T>C	(Likely) benign	1 lab	91744f6283
8:1728533 CLN8 G>A	8	1728533	1728533	G	A	CLN8	c.661G>A	NM_018941.3	NP_061764.2:p.(Gly221Ser)	NC_000008.10:g.1728533G>A	(Likely) benign	1 lab	917651d3e7
4:79285001 FRAS1 G>A	4	79285001	79285001	G	A	FRAS1	c.2576-61G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79285001G>A	(Likely) benign	1 lab	91801602cd
13:37573407 ALG5 G>C	13	37573407	37573407	G	C	ALG5	c.31C>G	NM_013338.5	NP_037470.1:p.(Leu11Val)	NC_000013.10:g.37573407G>C	(Likely) benign	1 lab	918201464b
1:247588058 NLRP3 C>A	1	247588058	247588058	C	A	NLRP3	c.1307C>A	NM_001243133.2	NP_001230062.1:p.(Thr436Asn)	NC_000001.10:g.247588058C>A	(Likely) pathogenic	1 lab	9183e668d7
2:84676886 SUCLG1 TAAAA>T	2	84676886	84676911	TAAAA	T	SUCLG1	c.98-14_98-11del	NM_003849.4	NP_003840.2:p.?	NC_000002.11:g.84676908_84676911del	(Likely) benign	1 lab	91852cfe95
10:27324477 ANKRD26 T>C	10	27324477	27324477	T	C	ANKRD26	c.2902A>G	NM_014915.2	NP_055730.2:p.(Thr968Ala)	NC_000010.10:g.27324477T>C	(Likely) benign	1 lab	918d346be3
1:193181627 CDC73 A>C	1	193181627	193181627	A	C	CDC73	c.1154+20A>C	NM_024529.4	NP_078805.3:p.?	NC_000001.10:g.193181627A>C	(Likely) benign	1 lab	919439b7cd
X:110961328 ALG13 T>A	X	110961328	110961328	T	A	ALG13	c.854-12T>A	NM_001257231.1	NP_001244160.1:p.?	NC_000023.10:g.110961328T>A	(Likely) benign	1 lab	919638d74d
2:27462343 CAD C>T	2	27462343	27462343	C	T	CAD	c.5394+4C>T	NM_004341.5	NP_004332.2:p.?	NC_000002.11:g.27462343C>T	(Likely) benign	1 lab	d3704cad68
1:228465516 OBSCN T>G	1	228465516	228465516	T	G	OBSCN	c.8103T>G	NM_001271223.2	NP_001258152.2:p.(Phe2701Leu)	NC_000001.10:g.228465516T>G	(Likely) benign	1 lab	919ac34c00
5:40958326 C7 G>T	5	40958326	40958326	G	T	C7	c.1452G>T	NM_000587.2	NP_000578.2:p.(Ala484=)	NC_000005.9:g.40958326G>T	(Likely) benign	1 lab	919b15e541
1:1149477 TNFRSF4 C>T	1	1149477	1149477	C	T	TNFRSF4	c.31G>A	NM_003327.4	NP_003318.1:p.(Gly11Arg)	NC_000001.10:g.1149477C>T	(Likely) benign	1 lab	91a0794413
9:304711 DOCK8 C>A	9	304711	304711	C	A	DOCK8	c.528+7C>A	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.304711C>A	(Likely) benign	1 lab	91a084da2e
5:125929807 ALDH7A1 T>C	5	125929807	125929807	T	C	ALDH7A1	c.193-711A>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929807T>C	(Likely) benign	1 lab	91a35be3b9
1:6269340 RNF207 A>G	1	6269340	6269340	A	G	RNF207	c.564A>G	NM_207396.3	NP_997279.2:p.(Ala188=)	NC_000001.10:g.6269340A>G	(Likely) benign	1 lab	91a4b7272e
10:54050068 PRKG1 C>G	10	54050068	54050068	C	G	PRKG1	c.1962+18C>G	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.54050068C>G	(Likely) benign	1 lab	91a7b84a71
12:103249099 PAH A>G	12	103249099	103249099	A	G	PAH	c.521T>C	NM_000277.3	NP_000268.1:p.(Ile174Thr)	NC_000012.11:g.103249099A>G	(Likely) pathogenic	1 lab	91b1854fac
10:96076250 PLCE1 G>T	10	96076250	96076250	G	T	PLCE1	c.6133-54G>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96076250G>T	(Likely) benign	1 lab	91b25611ec
4:79188539 FRAS1 C>T	4	79188539	79188539	C	T	FRAS1	c.934C>T	NM_025074.7	NP_079350.5:p.(Gln312Ter)	NC_000004.11:g.79188539C>T	(Likely) pathogenic	1 lab	91b37b0179
16:1266940 CACNA1H C>T	16	1266940	1266940	C	T	CACNA1H	c.5253C>T	NM_021098.3	NP_066921.2:p.(Asn1751=)	NC_000016.9:g.1266940C>T	(Likely) benign	1 lab	91b93cc08d
11:793002 SLC25A22 G>A	11	793002	793002	G	A	SLC25A22	c.294-14C>T	NM_001191060.1	NP_001177989.1:p.?	NC_000011.9:g.793002G>A	(Likely) benign	1 lab	91c1643452
20:60889486 LAMA5 T>C	20	60889486	60889486	T	C	LAMA5	c.8378A>G	NM_005560.4	NP_005551.3:p.(Asp2793Gly)	NC_000020.10:g.60889486T>C	(Likely) benign	1 lab	91c26151c0
17:61559809 ACE G>A	17	61559809	61559809	G	A	ACE	c.1119-18G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61559809G>A	(Likely) benign	1 lab	91c2858835
11:117263197 CEP164 C>T	11	117263197	117263197	C	T	CEP164	c.2362-15C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117263197C>T	(Likely) benign	1 lab	91c2efecba
4:2831389 SH3BP2 G>A	4	2831389	2831389	G	A	SH3BP2	c.756G>A	NM_003023.4	NP_003014.3:p.(Glu252=)	NC_000004.11:g.2831389G>A	(Likely) benign	1 lab	91d23f778e
22:32187947 DEPDC5 A>G	22	32187947	32187947	A	G	DEPDC5	c.625-72A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32187947A>G	(Likely) benign	1 lab	91d4d64c91
5:177580648 NHP2 G>A	5	177580648	177580648	G	A	NHP2	c.160+11C>T	NM_017838.3	NP_060308.1:p.?	NC_000005.9:g.177580648G>A	(Likely) benign	1 lab	91d9ccf4d2
12:133215785 POLE C>A	12	133215785	133215785	C	A	POLE	c.5478G>T	NM_006231.3	NP_006222.2:p.(Arg1826=)	NC_000012.11:g.133215785C>A	(Likely) benign	1 lab	91dbfc3e2b
20:61990878 CHRNA4 C>T	20	61990878	61990878	C	T	CHRNA4	c.-319+22G>A	NM_001256573.2	NP_001243502.1:p.?	NC_000020.10:g.61990878C>T	(Likely) benign	1 lab	91defdead7
7:104707178 KMT2E T>A	7	104707178	104707178	T	A	KMT2E	c.421T>A	NM_182931.3	NP_891847.1:p.(Trp141Arg)	NC_000007.13:g.104707178T>A	VUS	1 lab	d371bf8037
X:31227669 DMD T>C	X	31227669	31227669	T	C	DMD	c.9509A>G	NM_004006.3	NP_003997.2:p.(Asn3170Ser)	NC_000023.10:g.31227669T>C	VUS	1 lab	d37819a0a9
X:70340975 MED12 C>T	X	70340975	70340975	C	T	MED12	c.708C>T	NM_005120.3	NP_005111.2:p.(Thr236=)	NC_000023.10:g.70340975C>T	(Likely) benign	1 lab	91fbcec657
13:108862245 LIG4 G>A	13	108862245	108862245	G	A	LIG4	c.1372C>T	NM_002312.3	NP_002303.2:p.(Leu458=)	NC_000013.10:g.108862245G>A	(Likely) benign	1 lab	91fc70c69e
15:48737794 FBN1 C>T	15	48737794	48737794	C	T	FBN1	c.5789-93G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48737794C>T	(Likely) benign	1 lab	91fd478add
11:22646733 FANCF C>A	11	22646733	22646733	C	A	FANCF	c.624G>T	NM_022725.3	NP_073562.1:p.(Ala208=)	NC_000011.9:g.22646733C>A	(Likely) benign	1 lab	91fdfd2592
11:65308383 LTBP3 T>A	11	65308383	65308383	T	A	LTBP3	c.2936A>T	NM_001130144.2	NP_001123616.1:p.(Gln979Leu)	NC_000011.9:g.65308383T>A	VUS	1 lab	9208be97ee
16:2152985 PKD1 C>T	16	2152985	2152985	C	T	PKD1	c.8792-14G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2152985C>T	(Likely) benign	1 lab	920a967941
13:103498665 ERCC5 GT>G	13	103498665	103498666	GT	G	ERCC5	c.50del	NM_000123.4	NP_000114.3:p.(Val17AlafsTer19)	NC_000013.10:g.103498666del	(Likely) pathogenic	1 lab	d37a9a2def
9:94809916 SPTLC1 C>T	9	94809916	94809916	C	T	SPTLC1	c.963G>A	NM_006415.2	NP_006406.1:p.(Arg321=)	NC_000009.11:g.94809916C>T	(Likely) benign	1 lab	9212d6b577
4:15601207 CC2D2A C>T	4	15601207	15601207	C	T	CC2D2A	c.4552C>T	NM_001080522.2	NP_001073991.2:p.(Arg1518Trp)	NC_000004.11:g.15601207C>T	(Likely) pathogenic	1 lab	921475e41d
17:41245296 BRCA1 A>C	17	41245296	41245296	A	C	BRCA1	c.2252T>G	NM_007300.4	NP_009231.2:p.(Met751Arg)	NC_000017.10:g.41245296A>C	VUS	1 lab	9217b8d846
14:67147887 GPHN G>T	14	67147887	67147887	G	T	GPHN	c.127G>T	NM_020806.4	NP_065857.1:p.(Val43Leu)	NC_000014.8:g.67147887G>T	(Likely) benign	1 lab	9218cb1878
4:79188101 FRAS1 T>G	4	79188101	79188101	T	G	FRAS1	c.789+12T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79188101T>G	(Likely) benign	1 lab	92225ee9fb
11:67258381 AIP C>T	11	67258381	67258381	C	T	AIP	c.910C>T	NM_003977.2	NP_003968.2:p.(Arg304Ter)	NC_000011.9:g.67258381C>T	(Likely) pathogenic	1 lab	92246fac1b
17:66596725 FAM20A C>T	17	66596725	66596725	C	T	FAM20A	c.83G>A	NM_017565.4	NP_060035.2:p.(Trp28Ter)	NC_000017.10:g.66596725C>T	(Likely) pathogenic	1 lab	9226086ab4
15:27126006 GABRA5 C>G	15	27126006	27126006	C	G	GABRA5	c.100C>G	NM_000810.4	NP_000801.1:p.(Pro34Ala)	NC_000015.9:g.27126006C>G	(Likely) benign	1 lab	922893d624
19:13338194 CACNA1A AG>A	19	13338194	13338195	AG	A	CACNA1A	c.5625+50del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13338195del	(Likely) benign	1 lab	922bd5cae6
8:100127839 VPS13B C>A	8	100127839	100127839	C	A	VPS13B	c.763-89C>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100127839C>A	(Likely) benign	1 lab	922d869857
11:66283312 BBS1 C>G	11	66283312	66283312	C	G	BBS1	c.519-20C>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283312C>G	(Likely) benign	1 lab	92331c75e6
20:62076600 KCNQ2 A>G	20	62076600	62076600	A	G	KCNQ2	c.505T>C	NM_172107.4	NP_742105.1:p.(Cys169Arg)	NC_000020.10:g.62076600A>G	(Likely) pathogenic	1 lab	9233c8cb80
20:31395592 DNMT3B C>T	20	31395592	31395592	C	T	DNMT3B	c.2445C>T	NM_006892.3	NP_008823.1:p.(Tyr815=)	NC_000020.10:g.31395592C>T	(Likely) benign	1 lab	9234ebddd0
16:15851756 MYH11 G>C	16	15851756	15851756	G	C	MYH11	c.1524C>G	NM_001040113.2	NP_001035202.1:p.(Arg508=)	NC_000016.9:g.15851756G>C	(Likely) benign	1 lab	92404e9cca
19:13338392 CACNA1A C>T	19	13338392	13338392	C	T	CACNA1A	c.5547-51G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13338392C>T	(Likely) benign	1 lab	92422d893f
8:145639494 SLC39A4 C>T	8	145639494	145639494	C	T	SLC39A4	c.1150-15G>A	NM_130849.4	NP_570901.3:p.?	NC_000008.10:g.145639494C>T	(Likely) benign	1 lab	9242868719
11:72091352 CLPB T>C	11	72091352	72091352	T	C	CLPB	c.619A>G	NM_030813.6	NP_110440.1:p.(Lys207Glu)	NC_000011.9:g.72091352T>C	(Likely) benign	1 lab	9243384647
18:28662344 DSC2 G>A	18	28662344	28662344	G	A	DSC2	c.1123C>T	NM_004949.3	NP_004940.1:p.(Arg375Ter)	NC_000018.9:g.28662344G>A	(Likely) pathogenic	1 lab	9247f8f0e2
16:3293692 MEFV T>C	16	3293692	3293692	T	C	MEFV	c.1795A>G	NM_000243.2	NP_000234.1:p.(Asn599Asp)	NC_000016.9:g.3293692T>C	VUS	1 lab	924ce3005d
11:117693413 FXYD2 G>A	11	117693413	117693413	G	A	FXYD2	c.39C>T	NM_021603.4	NP_067614.1:p.(Asp13=)	NC_000011.9:g.117693413G>A	(Likely) benign	1 lab	924d209509
8:145001217 PLEC C>T	8	145001217	145001217	C	T	PLEC	c.4284G>A	NM_201380.4	NP_958782.1:p.(Ala1428=)	NC_000008.10:g.145001217C>T	(Likely) benign	1 lab	924da7cea9
1:196709749 CFH G>C	1	196709749	196709749	G	C	CFH	c.2783G>C	NM_000186.3	NP_000177.2:p.(Gly928Ala)	NC_000001.10:g.196709749G>C	(Likely) benign	1 lab	924e644c00
10:43606832 RET C>G	10	43606832	43606832	C	G	RET	c.1441C>G	NM_020975.6	NP_066124.1:p.(Leu481Val)	NC_000010.10:g.43606832C>G	VUS	1 lab	d37b311f3c
16:31196224 FUS GT>G	16	31196224	31196236	GT	G	FUS	c.524-24del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31196236del	(Likely) benign	1 lab	92516c472e
5:89913804 ADGRV1 AG>A	5	89913804	89913806	AG	A	ADGRV1	c.357+36del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89913806del	(Likely) benign	1 lab	9252f87201
10:92678649 ANKRD1 G>T	10	92678649	92678649	G	T	ANKRD1	c.426C>A	NM_014391.2	NP_055206.2:p.(Asp142Glu)	NC_000010.10:g.92678649G>T	(Likely) pathogenic	1 lab	92582af1b5
2:234115359 INPP5D C>T	2	234115359	234115359	C	T	INPP5D	c.*5C>T	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.234115359C>T	(Likely) benign	1 lab	925c280891
8:27327370 CHRNA2 G>A	8	27327370	27327370	G	A	CHRNA2	c.202C>T	NM_000742.4	NP_000733.2:p.(Arg68Trp)	NC_000008.10:g.27327370G>A	(Likely) benign	1 lab	925c388a61
15:80473390 FAH G>T	15	80473390	80473390	G	T	FAH	c.1069G>T	NM_000137.4	NP_000128.1:p.(Glu357Ter)	NC_000015.9:g.80473390G>T	(Likely) pathogenic	1 lab	925cca4d68
8:42183580 IKBKB G>A	8	42183580	42183580	G	A	IKBKB	c.2079G>A	NM_001556.3	NP_001547.1:p.(Thr693=)	NC_000008.10:g.42183580G>A	(Likely) benign	1 lab	925daedf1b
22:21105629 PI4KA G>A	22	21105629	21105629	G	A	PI4KA	c.3105C>T	NM_058004.4	NP_477352.3:p.(Pro1035=)	NC_000022.10:g.21105629G>A	(Likely) benign	1 lab	926922703b
2:152955550 CACNB4 C>A	2	152955550	152955550	C	A	CACNB4	c.-25G>T	NM_000726.4	NP_000717.2:p.?	NC_000002.11:g.152955550C>A	(Likely) benign	1 lab	926b5abcb0
15:31218057 FAN1 C>T	15	31218057	31218057	C	T	FAN1	c.2403C>T	NM_014967.5	NP_055782.3:p.(Ala801=)	NC_000015.9:g.31218057C>T	(Likely) benign	1 lab	9270a7712c
17:8138142 CTC1 T>C	17	8138142	8138142	T	C	CTC1	c.1542A>G	NM_025099.6	NP_079375.3:p.(Leu514=)	NC_000017.10:g.8138142T>C	(Likely) benign	1 lab	9274b6a4a8
X:154221291 F8 G>T	X	154221291	154221291	G	T	F8	c.521C>A	NM_000132.3	NP_000123.1:p.(Thr174Asn)	NC_000023.10:g.154221291G>T	VUS	1 lab	9276fda704
9:738323 KANK1 C>T	9	738323	738323	C	T	KANK1	c.3372C>T	NM_015158.4	NP_055973.2:p.(Arg1124=)	NC_000009.11:g.738323C>T	(Likely) benign	1 lab	927942dad4
7:21630542 DNAH11 G>T	7	21630542	21630542	G	T	DNAH11	c.2176G>T	NM_001277115.2	NP_001264044.1:p.(Ala726Ser)	NC_000007.13:g.21630542G>T	VUS	1 lab	d3821805f2
2:166848544 SCN1A G>T	2	166848544	166848544	G	T	SCN1A	c.5241C>A	NM_001165963.3	NP_001159435.1:p.(Asn1747Lys)	NC_000002.11:g.166848544G>T	VUS	1 lab	927a950b19
8:100050677 VPS13B A>G	8	100050677	100050677	A	G	VPS13B	c.174A>G	NM_017890.4	NP_060360.3:p.(Leu58=)	NC_000008.10:g.100050677A>G	(Likely) benign	1 lab	927f7be416
16:3304394 MEFV T>C	16	3304394	3304394	T	C	MEFV	c.674A>G	NM_000243.2	NP_000234.1:p.(Glu225Gly)	NC_000016.9:g.3304394T>C	VUS	1 lab	9281cfb0bd
4:79176498 FRAS1 C>T	4	79176498	79176498	C	T	FRAS1	c.572C>T	NM_025074.7	NP_079350.5:p.(Thr191Ile)	NC_000004.11:g.79176498C>T	(Likely) benign	1 lab	928870c018
12:110012664 MVK A>T	12	110012664	110012664	A	T	MVK	c.37A>T	NM_000431.2	NP_000422.1:p.(Lys13Ter)	NC_000012.11:g.110012664A>T	(Likely) pathogenic	1 lab	928d74daef
19:13419223 CACNA1A GACTT>G	19	13419223	13419231	GACTT	G	CACNA1A	c.1781+3_1781+6del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13419228_13419231del	VUS	1 lab	9290a4133e
12:66826633 GRIP1 A>T	12	66826633	66826633	A	T	GRIP1	c.1532-225T>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66826633A>T	(Likely) benign	1 lab	929155ecf0
17:59940633 BRIP1 C>T	17	59940633	59940633	C	T	BRIP1	c.-31+12G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59940633C>T	(Likely) benign	1 lab	9291ee2b5f
18:29122781 DSG2 T>G	18	29122781	29122781	T	G	DSG2	c.2300T>G	NM_001943.3	NP_001934.2:p.(Leu767Arg)	NC_000018.9:g.29122781T>G	VUS	1 lab	92970ca86c
2:217280107 SMARCAL1 G>T	2	217280107	217280107	G	T	SMARCAL1	c.680G>T	NM_014140.3	NP_054859.2:p.(Gly227Val)	NC_000002.11:g.217280107G>T	(Likely) benign	1 lab	929acfc0a1
X:32328395 DMD T>C	X	32328395	32328395	T	C	DMD	c.5554-2A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32328395T>C	VUS	1 lab	929b2c5115
16:3304129 MEFV G>A	16	3304129	3304129	G	A	MEFV	c.910+29C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3304129G>A	(Likely) benign	1 lab	929bd842af
15:99671591 SYNM T>C	15	99671591	99671591	T	C	SYNM	c.3026T>C	NM_145728.2	NP_663780.2:p.(Val1009Ala)	NC_000015.9:g.99671591T>C	(Likely) benign	1 lab	92a7637e03
12:111758270 CUX2 C>A	12	111758270	111758270	C	A	CUX2	c.2457C>A	NM_015267.4	NP_056082.2:p.(Pro819=)	NC_000012.11:g.111758270C>A	(Likely) benign	1 lab	92a79e0f2d
7:47894557 PKD1L1 G>A	7	47894557	47894557	G	A	PKD1L1	c.4782C>T	NM_138295.5	NP_612152.1:p.(Asn1594=)	NC_000007.13:g.47894557G>A	(Likely) benign	1 lab	92aae2d9be
9:35738015 GBA2 G>GCTC	9	35738015	35738027	G	GCTC	GBA2	c.2313+16_2313+18dup	NM_001330660.2	NP_001317589.1:p.?	NC_000009.11:g.35738025_35738027dup	(Likely) benign	1 lab	92adaf85f9
8:41790786 KAT6A G>GGCT	8	41790786	41790799	G	GGCT	KAT6A	c.4949_4951dup	NM_006766.5	NP_006757.2:p.(Gln1650dup)	NC_000008.10:g.41790797_41790799dup	(Likely) benign	1 lab	d38dabcb62
1:235907455 LYST A>C	1	235907455	235907455	A	C	LYST	c.7975T>G	NM_000081.3	NP_000072.2:p.(Phe2659Val)	NC_000001.10:g.235907455A>C	(Likely) benign	1 lab	92b12e6b44
17:40481472 STAT3 G>A	17	40481472	40481472	G	A	STAT3	c.1237C>T	NM_139276.2	NP_644805.1:p.(Leu413=)	NC_000017.10:g.40481472G>A	(Likely) benign	1 lab	92b5751ab0
1:198718692 PTPRC T>C	1	198718692	198718692	T	C	PTPRC	c.3072+14T>C	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198718692T>C	(Likely) benign	1 lab	92b979162d
17:73826170 UNC13D C>T	17	73826170	73826170	C	T	UNC13D	c.2893G>A	NM_199242.2	NP_954712.1:p.(Ala965Thr)	NC_000017.10:g.73826170C>T	(Likely) benign	1 lab	92b9db519f
5:90449259 ADGRV1 C>G	5	90449259	90449259	C	G	ADGRV1	c.18802+44C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90449259C>G	(Likely) benign	1 lab	92bb82e590
1:151789252 RORC G>A	1	151789252	151789252	G	A	RORC	c.186C>T	NM_005060.4	NP_005051.2:p.(Asn62=)	NC_000001.10:g.151789252G>A	(Likely) benign	1 lab	92bf21d196
4:15560691 CC2D2A A>G	4	15560691	15560691	A	G	CC2D2A	c.2830-97A>G	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15560691A>G	(Likely) benign	1 lab	92c0b52cbd
17:42330697 SLC4A1 G>A	17	42330697	42330697	G	A	SLC4A1	c.2100C>T	NM_000342.4	NP_000333.1:p.(Ser700=)	NC_000017.10:g.42330697G>A	(Likely) benign	1 lab	92c39af23d
3:64133075 PRICKLE2 C>T	3	64133075	64133075	C	T	PRICKLE2	c.1091G>A	NM_198859.4	NP_942559.1:p.(Arg364Gln)	NC_000003.11:g.64133075C>T	(Likely) benign	1 lab	92c3d18cb0
9:14801710 FREM1 C>A	9	14801710	14801710	C	A	FREM1	c.3634G>T	NM_144966.5	NP_659403.4:p.(Ala1212Ser)	NC_000009.11:g.14801710C>A	(Likely) benign	1 lab	92c641b19f
5:38876363 OSMR G>A	5	38876363	38876363	G	A	OSMR	c.134G>A	NM_003999.3	NP_003990.1:p.(Arg45His)	NC_000005.9:g.38876363G>A	(Likely) benign	1 lab	92c8c906be
7:116423413 MET T>G	7	116423413	116423413	T	G	MET	c.3742T>G	NM_001127500.1	NP_001120972.1:p.(Tyr1248Asp)	NC_000007.13:g.116423413T>G	(Likely) pathogenic	1 lab	92cc2b293b
1:155264043 PKLR C>A	1	155264043	155264043	C	A	PKLR	c.1099G>T	NM_000298.6	NP_000289.1:p.(Val367Phe)	NC_000001.10:g.155264043C>A	(Likely) pathogenic	1 lab	92cfe5f75a
12:58201129 AVIL C>T	12	58201129	58201129	C	T	AVIL	c.1476G>A	NM_006576.3	NP_006567.3:p.(Lys492=)	NC_000012.11:g.58201129C>T	(Likely) benign	1 lab	92d3e17ee7
X:107935999 COL4A5 G>A	X	107935999	107935999	G	A	COL4A5	c.4532G>A	NM_000495.5	NP_000486.1:p.(Arg1511His)	NC_000023.10:g.107935999G>A	VUS	1 lab	92d42c87e3
2:242684115 D2HGDH T>C	2	242684115	242684115	T	C	D2HGDH	c.685-9T>C	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242684115T>C	(Likely) benign	1 lab	d390c1c4b1
14:104027557 BAG5 C>T	14	104027557	104027557	C	T	BAG5	c.96-28G>A	NM_001015049.3	NP_001015049.1:p.?	NC_000014.8:g.104027557C>T	(Likely) benign	1 lab	92df9daecd
16:1638043 IFT140 C>T	16	1638043	1638043	C	T	IFT140	c.811-18G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1638043C>T	(Likely) benign	1 lab	92e18157a1
4:129793242 JADE1 C>T	4	129793242	129793242	C	T	JADE1	c.2354C>T	NM_199320.4	NP_955352.1:p.(Pro785Leu)	NC_000004.11:g.129793242C>T	VUS	1 lab	92e7cefd9b
20:61981911 CHRNA4 C>T	20	61981911	61981911	C	T	CHRNA4	c.852G>A	NM_000744.6	NP_000735.1:p.(Ser284=)	NC_000020.10:g.61981911C>T	(Likely) benign	1 lab	92ed5ae29a
17:61994776 GH1 G>A	17	61994776	61994776	G	A	GH1	c.547C>T	NM_000515.5	NP_000506.2:p.(Leu183Phe)	NC_000017.10:g.61994776G>A	VUS	1 lab	d3926a8169
4:10080526 WDR1 T>C	4	10080526	10080526	T	C	WDR1	c.1384A>G	NM_017491.5	NP_059830.1:p.(Ile462Val)	NC_000004.11:g.10080526T>C	(Likely) benign	1 lab	92f45bf2ca
9:100286484 TMOD1 G>A	9	100286484	100286484	G	A	TMOD1	c.14G>A	NM_003275.4	NP_003266.1:p.(Arg5Gln)	NC_000009.11:g.100286484G>A	(Likely) benign	1 lab	92f5c4d574
7:128486783 FLNC G>A	7	128486783	128486783	G	A	FLNC	c.4128-16G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128486783G>A	(Likely) benign	1 lab	92fa8dfdd6
6:32940815 BRD2 C>T	6	32940815	32940815	C	T	BRD2	c.29+111C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32940815C>T	(Likely) benign	1 lab	92fb1323c2
2:227954610 COL4A4 C>T	2	227954610	227954610	C	T	COL4A4	c.1433G>A	NM_000092.4	NP_000083.3:p.(Gly478Glu)	NC_000002.11:g.227954610C>T	(Likely) pathogenic	1 lab	92fbed9250
12:13761631 GRIN2B G>A	12	13761631	13761631	G	A	GRIN2B	c.1916C>T	NM_000834.4	NP_000825.2:p.(Ala639Val)	NC_000012.11:g.13761631G>A	(Likely) pathogenic	1 lab	92fee0b200
4:981630 IDUA C>A	4	981630	981630	C	A	IDUA	c.192C>A	NM_000203.5	NP_000194.2:p.(Tyr64Ter)	NC_000004.11:g.981630C>A	(Likely) pathogenic	1 lab	d39280b1bb
7:131191031 PODXL A>C	7	131191031	131191031	A	C	PODXL	c.1203T>G	NM_005397.4	NP_005388.2:p.(Asp401Glu)	NC_000007.13:g.131191031A>C	(Likely) benign	1 lab	930992ee21
10:8111471 GATA3 C>A	10	8111471	8111471	C	A	GATA3	c.960C>A	NM_001002295.2	NP_001002295.1:p.(Asn320Lys)	NC_000010.10:g.8111471C>A	(Likely) pathogenic	1 lab	930ca57827
6:31869065 C2 T>A	6	31869065	31869065	T	A	C2	c.-64+3346T>A	NM_001282457.2	NP_001269386.1:p.?	NC_000006.11:g.31869065T>A	(Likely) benign	1 lab	d393db14e2
2:227920709 COL4A4 G>A	2	227920709	227920709	G	A	COL4A4	c.2668C>T	NM_000092.4	NP_000083.3:p.(Pro890Ser)	NC_000002.11:g.227920709G>A	VUS	1 lab	9311a7ed22
1:247587542 NLRP3 T>A	1	247587542	247587542	T	A	NLRP3	c.791T>A	NM_001243133.2	NP_001230062.1:p.(Leu264His)	NC_000001.10:g.247587542T>A	(Likely) pathogenic	1 lab	931535a16e
2:88407937 SMYD1 G>A	2	88407937	88407937	G	A	SMYD1	c.1193G>A	NM_198274.4	NP_938015.1:p.(Arg398Gln)	NC_000002.11:g.88407937G>A	(Likely) benign	1 lab	931886703e
7:87060742 ABCB4 T>G	7	87060742	87060742	T	G	ABCB4	c.1871A>C	NM_000443.4	NP_000434.1:p.(Tyr624Ser)	NC_000007.13:g.87060742T>G	VUS	1 lab	931aeaee8a
20:389280 RBCK1 G>A	20	389280	389280	G	A	RBCK1	c.-122G>A	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.389280G>A	(Likely) benign	1 lab	931c1302bf
4:187630879 FAT1 T>C	4	187630879	187630879	T	C	FAT1	c.103A>G	NM_005245.4	NP_005236.2:p.(Thr35Ala)	NC_000004.11:g.187630879T>C	VUS	1 lab	9322d4c836
9:103060228 INVS C>T	9	103060228	103060228	C	T	INVS	c.2739C>T	NM_001318381.1	NP_001305310.1:p.(His913=)	NC_000009.11:g.103060228C>T	(Likely) benign	1 lab	9324b280bd
1:113643096 LRIG2 T>C	1	113643096	113643096	T	C	LRIG2	c.1299T>C	NM_014813.2	NP_055628.1:p.(Thr433=)	NC_000001.10:g.113643096T>C	(Likely) benign	1 lab	932b6a42e0
1:116268178 CASQ2 G>GAAAAA	1	116268178	116268201	G	GAAAAA	CASQ2	c.738-9_738-5dup	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116268197_116268201dup	(Likely) benign	1 lab	932cc621e7
8:102586004 GRHL2 C>T	8	102586004	102586004	C	T	GRHL2	c.843C>T	NM_024915.4	NP_079191.2:p.(Ser281=)	NC_000008.10:g.102586004C>T	(Likely) benign	1 lab	9333fdf367
2:166165879 SCN2A T>C	2	166165879	166165879	T	C	SCN2A	c.623T>C	NM_021007.3	NP_066287.2:p.(Val208Ala)	NC_000002.11:g.166165879T>C	(Likely) pathogenic	1 lab	9334138983
8:145737877 RECQL4 C>T	8	145737877	145737877	C	T	RECQL4	c.2953G>A	NM_004260.3	NP_004251.3:p.(Val985Met)	NC_000008.10:g.145737877C>T	(Likely) benign	1 lab	933c652693
4:20597446 SLIT2 C>T	4	20597446	20597446	C	T	SLIT2	c.3309C>T	NM_004787.4	NP_004778.1:p.(Pro1103=)	NC_000004.11:g.20597446C>T	(Likely) benign	1 lab	933f690b03
17:37947694 IKZF3 G>A	17	37947694	37947694	G	A	IKZF3	c.567C>T	NM_012481.5	NP_036613.2:p.(Leu189=)	NC_000017.10:g.37947694G>A	(Likely) benign	1 lab	9344b03704
1:11313993 MTOR G>A	1	11313993	11313993	G	A	MTOR	c.743C>T	NM_004958.3	NP_004949.1:p.(Thr248Ile)	NC_000001.10:g.11313993G>A	(Likely) benign	1 lab	93488b93dd
1:62704046 KANK4 C>T	1	62704046	62704046	C	T	KANK4	c.2891G>A	NM_181712.5	NP_859063.3:p.(Arg964His)	NC_000001.10:g.62704046C>T	(Likely) benign	1 lab	934dd6a60c
4:79186389 FRAS1 A>G	4	79186389	79186389	A	G	FRAS1	c.687+127A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79186389A>G	(Likely) benign	1 lab	935074f091
15:51868380 DMXL2 T>TAAAA	15	51868380	51868400	T	TAAAA	DMXL2	c.88-6_88-3dup	NM_001174116.3	NP_001167587.1:p.?	NC_000015.9:g.51868397_51868400dup	(Likely) benign	1 lab	d39b0c3bf8
16:30999198 HSD3B7 C>T	16	30999198	30999198	C	T	HSD3B7	c.804C>T	NM_025193.4	NP_079469.2:p.(Tyr268=)	NC_000016.9:g.30999198C>T	(Likely) benign	1 lab	93566c4d97
9:138647217 KCNT1 C>T	9	138647217	138647217	C	T	KCNT1	c.540+202C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138647217C>T	(Likely) benign	1 lab	935efb7b2f
6:2896280 SERPINB9 A>G	6	2896280	2896280	A	G	SERPINB9	c.306+7T>C	NM_004155.6	NP_004146.1:p.?	NC_000006.11:g.2896280A>G	(Likely) benign	1 lab	935f99452c
2:108618128 SLC5A7 C>CA	2	108618128	108618145	C	CA	SLC5A7	c.598-208dup	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108618145dup	(Likely) benign	1 lab	935fd716b3
11:77815498 ALG8 GGCTAAAA>G	11	77815498	77815505	GGCTAAAA	G	ALG8	c.1179-6_1179del	NM_024079.5	NP_076984.2:p.?	NC_000011.9:g.77815499_77815505del	(Likely) pathogenic	1 lab	9363d87115
11:57367442 SERPING1 A>G	11	57367442	57367442	A	G	SERPING1	c.142A>G	NM_000062.2	NP_000053.2:p.(Thr48Ala)	NC_000011.9:g.57367442A>G	(Likely) benign	1 lab	93680492ad
16:50745574 NOD2 C>T	16	50745574	50745574	C	T	NOD2	c.1752C>T	NM_022162.1	NP_071445.1:p.(Phe584=)	NC_000016.9:g.50745574C>T	(Likely) benign	1 lab	93715eb7e2
10:119774598 RAB11FIP2 T>A	10	119774598	119774598	T	A	RAB11FIP2	c.1289A>T	NM_014904.3	NP_055719.1:p.(Asn430Ile)	NC_000010.10:g.119774598T>A	VUS	1 lab	9375219af7
2:74688972 MOGS C>T	2	74688972	74688972	C	T	MOGS	c.1944G>A	NM_006302.3	NP_006293.2:p.(Glu648=)	NC_000002.11:g.74688972C>T	(Likely) benign	1 lab	937692e98e
12:103288642 PAH C>T	12	103288642	103288642	C	T	PAH	c.223G>A	NM_000277.3	NP_000268.1:p.(Asp75Asn)	NC_000012.11:g.103288642C>T	(Likely) pathogenic	1 lab	937d5b7d25
22:36744886 MYH9 GC>G	22	36744886	36744898	GC	G	MYH9	c.333+62del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36744898del	(Likely) benign	1 lab	937e933543
18:29099831 DSG2 C>T	18	29099831	29099831	C	T	DSG2	c.147C>T	NM_001943.3	NP_001934.2:p.(Arg49=)	NC_000018.9:g.29099831C>T	(Likely) benign	1 lab	9381657f41
6:33410698 SYNGAP1 C>A	6	33410698	33410698	C	A	SYNGAP1	c.2369C>A	NM_006772.3	NP_006763.2:p.(Thr790Asn)	NC_000006.11:g.33410698C>A	(Likely) benign	1 lab	938aba8851
6:52881022 CILK1 A>G	6	52881022	52881022	A	G	CILK1	c.690T>C	NM_016513.4	NP_057597.2:p.(Leu230=)	NC_000006.11:g.52881022A>G	(Likely) benign	1 lab	938fc6f4bf
X:100611954 BTK A>T	X	100611954	100611954	A	T	BTK	c.1280-11T>A	NM_001287344.1	NP_001274273.1:p.?	NC_000023.10:g.100611954A>T	(Likely) benign	1 lab	939178df59
3:137822598 DZIP1L G>C	3	137822598	137822598	G	C	DZIP1L	c.216C>G	NM_173543.3	NP_775814.2:p.(Cys72Trp)	NC_000003.11:g.137822598G>C	VUS	1 lab	93943dfdce
5:94839536 SKIC3 A>G	5	94839536	94839536	A	G	SKIC3	c.3199T>C	NM_014639.3	NP_055454.1:p.(Tyr1067His)	NC_000005.9:g.94839536A>G	(Likely) benign	1 lab	9396ff53dc
14:64678744 SYNE2 G>A	14	64678744	64678744	G	A	SYNE2	c.18789G>A	NM_182914.2	NP_878918.2:p.(Glu6263=)	NC_000014.8:g.64678744G>A	(Likely) benign	1 lab	939ae57727
15:51023253 SPPL2A C>T	15	51023253	51023253	C	T	SPPL2A	c.1015-17G>A	NM_032802.4	NP_116191.2:p.?	NC_000015.9:g.51023253C>T	(Likely) benign	1 lab	939b483d1f
2:179466064 TTN G>A	2	179466064	179466064	G	A	TTN	c.55660C>T	NM_001267550.1	NP_001254479.1:p.(Arg18554Ter)	NC_000002.11:g.179466064G>A	(Likely) pathogenic	1 lab	939d6456c2
X:19764459 SH3KBP1 G>A	X	19764459	19764459	G	A	SH3KBP1	c.263C>T	NM_001353891.2	NP_001340820.1:p.(Thr88Met)	NC_000023.10:g.19764459G>A	(Likely) benign	1 lab	939e6289ae
16:1257591 CACNA1H G>A	16	1257591	1257591	G	A	CACNA1H	c.3063+161G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1257591G>A	(Likely) benign	1 lab	93a087a3ad
14:105169765 INF2 G>A	14	105169765	105169765	G	A	INF2	c.641G>A	NM_022489.3	NP_071934.3:p.(Arg214His)	NC_000014.8:g.105169765G>A	(Likely) pathogenic	1 lab	93a18620ac
5:37187598 CPLANE1 G>A	5	37187598	37187598	G	A	CPLANE1	c.3998C>T	NM_023073.3	NP_075561.3:p.(Pro1333Leu)	NC_000005.9:g.37187598G>A	(Likely) pathogenic	1 lab	93a2307958
7:45104204 CCM2 A>G	7	45104204	45104204	A	G	CCM2	c.494A>G	NM_001029835.2	NP_001025006.1:p.(Tyr165Cys)	NC_000007.13:g.45104204A>G	VUS	1 lab	93ace9a7b6
12:113357202 OAS1 C>T	12	113357202	113357202	C	T	OAS1	c.1047C>T	NM_016816.4	NP_058132.2:p.(Ser349=)	NC_000012.11:g.113357202C>T	(Likely) benign	1 lab	93aef52ae4
10:97158760 SORBS1 G>A	10	97158760	97158760	G	A	SORBS1	c.1158+14C>T	NM_001290294.2	NP_001277223.2:p.?	NC_000010.10:g.97158760G>A	(Likely) benign	1 lab	93af4e92fa
7:128496913 FLNC G>A	7	128496913	128496913	G	A	FLNC	c.7499G>A	NM_001458.4	NP_001449.3:p.(Ser2500Asn)	NC_000007.13:g.128496913G>A	(Likely) benign	1 lab	93b119ceaa
3:39230610 XIRP1 G>A	3	39230610	39230610	G	A	XIRP1	c.327C>T	NM_194293.4	NP_919269.2:p.(His109=)	NC_000003.11:g.39230610G>A	(Likely) benign	1 lab	93b29d60dd
11:62397672 GANAB A>G	11	62397672	62397672	A	G	GANAB	c.867T>C	NM_001329224.1	NP_001316153.1:p.(Tyr289=)	NC_000011.9:g.62397672A>G	(Likely) benign	1 lab	93b4a36165
8:145008159 PLEC C>CTCACCGACTG	8	145008159	145008160	C	CTCACCGACTG	PLEC	c.1674+6_1674+7insCAGTCGGTGA	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145008159_145008160insTCACCGACTG	VUS	1 lab	93b4b212ef
8:42166550 IKBKB G>A	8	42166550	42166550	G	A	IKBKB	c.692+7G>A	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42166550G>A	(Likely) benign	1 lab	93b5b6120b
1:78401504 NEXN GAAGGAA>G	1	78401504	78401510	GAAGGAA	G	NEXN	c.1252-3_1254del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78401505_78401510del	VUS	1 lab	d3a1ff281a
X:22002548 SMS T>C	X	22002548	22002548	T	C	SMS	c.865+12T>C	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.22002548T>C	(Likely) benign	1 lab	93ba426216
17:8133200 CTC1 G>A	17	8133200	8133200	G	A	CTC1	c.3011+9C>T	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8133200G>A	(Likely) benign	1 lab	93bdcc5fc2
17:26732290 MISSING C>A	17	26732290	26732290	C	A	MISSING				NC_000017.10:g.26732290C>A	(Likely) benign	1 lab	93c2574924
13:20580581 ZMYM2 A>G	13	20580581	20580581	A	G	ZMYM2	c.1367A>G	NM_003453.5	NP_003444.1:p.(Tyr456Cys)	NC_000013.10:g.20580581A>G	VUS	1 lab	93c2ac2c88
11:32413577 WT1 C>T	11	32413577	32413577	C	T	WT1				NC_000011.9:g.32413577C>T	(Likely) pathogenic	1 lab	93c7966c8a
12:53453969 TNS2 C>G	12	53453969	53453969	C	G	TNS2	c.2574C>G	NM_015319.2	NP_056134.2:p.(Ile858Met)	NC_000012.11:g.53453969C>G	(Likely) benign	1 lab	93c87275a9
6:108243115 SEC63 T>TGGGG	6	108243115	108243119	T	TGGGG	SEC63	c.340-6_340-3dup	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243116_108243119dup	(Likely) benign	1 lab	93ca416565
21:46321644 ITGB2 G>A	21	46321644	46321644	G	A	ITGB2	c.504C>T	NM_000211.3	NP_000202.2:p.(Phe168=)	NC_000021.8:g.46321644G>A	(Likely) benign	1 lab	93cc4ee86f
3:49136105 QARS1 C>T	3	49136105	49136105	C	T	QARS1	c.1884G>A	NM_005051.3	NP_005042.1:p.(Lys628=)	NC_000003.11:g.49136105C>T	(Likely) benign	1 lab	93d20e2143
X:132838307 GPC3 A>G	X	132838307	132838307	A	G	GPC3	c.1033-6T>C	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132838307A>G	(Likely) benign	1 lab	93d410ed60
6:51910980 PKHD1 G>A	6	51910980	51910980	G	A	PKHD1	c.2414C>T	NM_138694.4	NP_619639.3:p.(Pro805Leu)	NC_000006.11:g.51910980G>A	(Likely) pathogenic	1 lab	93d981d1ac
7:148524277 EZH2 G>A	7	148524277	148524277	G	A	EZH2	c.707C>T	NM_004456.5	NP_004447.2:p.(Thr236Ile)	NC_000007.13:g.148524277G>A	VUS	1 lab	d3a6019ae6
16:23360202 SCNN1B C>T	16	23360202	23360202	C	T	SCNN1B	c.282C>T	NM_000336.3	NP_000327.2:p.(Ala94=)	NC_000016.9:g.23360202C>T	(Likely) benign	1 lab	93dde2e806
6:108214787 SEC63 T>G	6	108214787	108214787	T	G	SEC63	c.1573A>C	NM_007214.5	NP_009145.1:p.(Lys525Gln)	NC_000006.11:g.108214787T>G	VUS	1 lab	93de7e8092
16:2164509 PKD1 G>A	16	2164509	2164509	G	A	PKD1	c.2515C>T	NM_001009944.2	NP_001009944.2:p.(Pro839Ser)	NC_000016.9:g.2164509G>A	(Likely) benign	1 lab	93dea051e3
15:35084722 ACTC1 T>A	15	35084722	35084722	T	A	ACTC1	c.503A>T	NM_005159.4	NP_005150.1:p.(Tyr168Phe)	NC_000015.9:g.35084722T>A	(Likely) benign	1 lab	93df2516c7
17:19251212 B9D1 G>T	17	19251212	19251212	G	T	B9D1	c.245-19C>A	NM_001321218.2	NP_001308147.1:p.?	NC_000017.10:g.19251212G>T	(Likely) benign	1 lab	93e78e253c
1:160106117 ATP1A2 G>A	1	160106117	160106117	G	A	ATP1A2				NC_000001.10:g.160106117G>A	(Likely) benign	1 lab	93e862a8aa
20:23028724 THBD G>A	20	23028724	23028724	G	A	THBD	c.1418C>T	NM_000361.2	NP_000352.1:p.(Ala473Val)	NC_000020.10:g.23028724G>A	(Likely) benign	1 lab	93eac93ebb
14:105167919 INF2 G>C	14	105167919	105167919	G	C	INF2	c.217G>C	NM_022489.3	NP_071934.3:p.(Gly73Arg)	NC_000014.8:g.105167919G>C	(Likely) pathogenic	1 lab	93ec41359a
7:100417495 EPHB4 C>T	7	100417495	100417495	C	T	EPHB4	c.981G>A	NM_004444.5	NP_004435.3:p.(Pro327=)	NC_000007.13:g.100417495C>T	(Likely) benign	1 lab	d3a68638b6
17:48678068 CACNA1G T>G	17	48678068	48678068	T	G	CACNA1G	c.3691-19T>G	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48678068T>G	(Likely) benign	1 lab	93ee3d86e4
19:48653454 LIG1 C>T	19	48653454	48653454	C	T	LIG1	c.588G>A	NM_000234.1	NP_000225.1:p.(Pro196=)	NC_000019.9:g.48653454C>T	(Likely) benign	1 lab	93eeffb33a
6:112575281 LAMA4 G>A	6	112575281	112575281	G	A	LAMA4	c.72C>T	NM_001105206.3	NP_001098676.2:p.(Ala24=)	NC_000006.11:g.112575281G>A	(Likely) benign	1 lab	93f111388c
11:615253 IRF7 G>C	11	615253	615253	G	C	IRF7	c.66C>G	NM_004031.4	NP_004022.2:p.(Ala22=)	NC_000011.9:g.615253G>C	(Likely) benign	1 lab	93f13ef8ff
2:136570091 LCT G>C	2	136570091	136570091	G	C	LCT	c.2143C>G	NM_002299.2	NP_002290.2:p.(His715Asp)	NC_000002.11:g.136570091G>C	(Likely) benign	1 lab	93f39bac0c
12:110013842 MVK C>T	12	110013842	110013842	C	T	MVK	c.118C>T	NM_000431.2	NP_000422.1:p.(Arg40Trp)	NC_000012.11:g.110013842C>T	(Likely) pathogenic	1 lab	93f496069f
6:73904405 KCNQ5 G>A	6	73904405	73904405	G	A	KCNQ5	c.2124G>A	NM_001160133.2	NP_001153605.1:p.(Gln708=)	NC_000006.11:g.73904405G>A	(Likely) benign	1 lab	9401a6ce2d
5:89938304 ADGRV1 T>A	5	89938304	89938304	T	A	ADGRV1	c.2241-149T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89938304T>A	(Likely) benign	1 lab	9401f780f0
2:87013064 CD8A G>A	2	87013064	87013064	G	A	CD8A	c.687C>T	NM_001768.6	NP_001759.3:p.(Ser229=)	NC_000002.11:g.87013064G>A	(Likely) benign	1 lab	9403002f00
10:53814335 PRKG1 G>T	10	53814335	53814335	G	T	PRKG1	c.795+14G>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53814335G>T	(Likely) benign	1 lab	9407d7738f
1:158648008 SPTA1 C>A	1	158648008	158648008	C	A	SPTA1	c.812+183G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158648008C>A	(Likely) benign	1 lab	940a82db91
2:216286830 FN1 G>A	2	216286830	216286830	G	A	FN1	c.1530C>T	NM_212482.2	NP_997647.1:p.(Ala510=)	NC_000002.11:g.216286830G>A	(Likely) benign	1 lab	940d3a371e
3:38662473 SCN5A G>A	3	38662473	38662473	G	A	SCN5A	c.483-11C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38662473G>A	(Likely) benign	1 lab	94107d968f
8:68395992 CPA6 C>A	8	68395992	68395992	C	A	CPA6	c.838+11G>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68395992C>A	(Likely) benign	1 lab	94147fb0f4
2:179569224 TTN T>C	2	179569224	179569224	T	C	TTN	c.29962+13A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179569224T>C	(Likely) benign	1 lab	9416a9d87d
1:237813168 RYR2 C>A	1	237813168	237813168	C	A	RYR2	c.7513-9C>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237813168C>A	(Likely) benign	1 lab	94236d0953
20:6065891 FERMT1 G>A	20	6065891	6065891	G	A	FERMT1	c.1415C>T	NM_017671.5	NP_060141.3:p.(Ser472Leu)	NC_000020.10:g.6065891G>A	VUS	1 lab	d3a693270c
5:90050894 ADGRV1 G>A	5	90050894	90050894	G	A	ADGRV1	c.11472G>A	NM_032119.4	NP_115495.3:p.(Leu3824=)	NC_000005.9:g.90050894G>A	(Likely) benign	1 lab	942b89016c
6:112528290 LAMA4 G>C	6	112528290	112528290	G	C	LAMA4				NC_000006.11:g.112528290G>C	VUS	1 lab	9430b3cd41
X:47432152 SYN1 G>A	X	47432152	47432152	G	A	SYN1	c.*111C>T	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47432152G>A	(Likely) benign	1 lab	9430d0daa1
18:32407556 DTNA G>C	18	32407556	32407556	G	C	DTNA	c.1002-1G>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32407556G>C	(Likely) pathogenic	1 lab	948be1de10
2:227924817 COL4A4 G>GAAAAAAA	2	227924817	227924841	G	GAAAAAAA	COL4A4	c.2164+28_2164+34dup	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924835_227924841dup	(Likely) benign	1 lab	9438c06474
17:41251716 BRCA1 C>T	17	41251716	41251716	C	T	BRCA1	c.547+76G>A	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41251716C>T	VUS	1 lab	943cc80cfb
3:53221425 PRKCD G>C	3	53221425	53221425	G	C	PRKCD	c.1415+7G>C	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53221425G>C	(Likely) benign	1 lab	943d38f699
20:33516765 GSS G>A	20	33516765	33516765	G	A	GSS	c.1302-11C>T	NM_000178.4	NP_000169.1:p.?	NC_000020.10:g.33516765G>A	(Likely) benign	1 lab	9443659e51
16:2149865 PKD1 T>C	16	2149865	2149865	T	C	PKD1	c.9920A>G	NM_001009944.2	NP_001009944.2:p.(Tyr3307Cys)	NC_000016.9:g.2149865T>C	VUS	1 lab	944419f4fd
2:191839539 STAT1 C>A	2	191839539	191839539	C	A	STAT1	c.2238+17G>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191839539C>A	(Likely) benign	1 lab	944a3891cb
16:3706656 DNASE1 C>T	16	3706656	3706656	C	T	DNASE1	c.338C>T	NM_005223.3	NP_005214.2:p.(Ala113Val)	NC_000016.9:g.3706656C>T	(Likely) benign	1 lab	944bc94005
9:139399447 NOTCH1 G>A	9	139399447	139399447	G	A	NOTCH1	c.4696C>T	NM_017617.5	NP_060087.3:p.(Pro1566Ser)	NC_000009.11:g.139399447G>A	VUS	1 lab	d3a6984fe1
6:36652339 CDKN1A C>G	6	36652339	36652339	C	G	CDKN1A	c.445+16C>G	NM_001220778.2	NP_001207707.1:p.?	NC_000006.11:g.36652339C>G	(Likely) benign	1 lab	94563b125d
5:169129320 DOCK2 C>T	5	169129320	169129320	C	T	DOCK2	c.1272C>T	NM_004946.3	NP_004937.1:p.(Asn424=)	NC_000005.9:g.169129320C>T	(Likely) benign	1 lab	945953b1b9
2:234680952 UGT1A4 G>A	2	234680952	234680952	G	A	UGT1A4	c.1352G>A	NM_007120.3	NP_009051.1:p.(Arg451His)	NC_000002.11:g.234680952G>A	VUS	1 lab	d3a7eb6b33
2:73650056 ALMS1 C>T	2	73650056	73650056	C	T	ALMS1	c.721C>T	NM_015120.4	NP_055935.4:p.(Pro241Ser)	NC_000002.11:g.73650056C>T	(Likely) benign	1 lab	945c4087a5
3:129168726 IFT122 C>T	3	129168726	129168726	C	T	IFT122	c.54C>T	NM_052985.4	NP_443711.2:p.(Ile18=)	NC_000003.11:g.129168726C>T	(Likely) benign	1 lab	945fd938d8
5:14406795 TRIO G>A	5	14406795	14406795	G	A	TRIO	c.4959+14G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14406795G>A	(Likely) benign	1 lab	9462ffc484
16:4387276 GLIS2 C>T	16	4387276	4387276	C	T	GLIS2	c.1326C>T	NM_032575.2	NP_115964.2:p.(Ala442=)	NC_000016.9:g.4387276C>T	(Likely) benign	1 lab	946523ab01
1:237617800 RYR2 G>A	1	237617800	237617800	G	A	RYR2	c.1402G>A	NM_001035.3	NP_001026.2:p.(Glu468Lys)	NC_000001.10:g.237617800G>A	VUS	1 lab	9466105803
1:237969595 RYR2 A>G	1	237969595	237969595	A	G	RYR2	c.14298+12A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237969595A>G	(Likely) benign	1 lab	9468062ff6
1:162336953 NOS1AP C>T	1	162336953	162336953	C	T	NOS1AP	c.1217C>T	NM_014697.3	NP_055512.1:p.(Ala406Val)	NC_000001.10:g.162336953C>T	(Likely) benign	1 lab	946a76c43a
2:31600017 XDH C>T	2	31600017	31600017	C	T	XDH	c.1329G>A	NM_000379.4	NP_000370.2:p.(Lys443=)	NC_000002.11:g.31600017C>T	(Likely) benign	1 lab	946ba79a6f
2:179463553 TTN G>A	2	179463553	179463553	G	A	TTN	c.56884C>T	NM_001267550.1	NP_001254479.1:p.(Arg18962Trp)	NC_000002.11:g.179463553G>A	VUS	1 lab	946dd9c489
1:155408846 ASH1L G>A	1	155408846	155408846	G	A	ASH1L	c.5100C>T	NM_018489.3	NP_060959.2:p.(Pro1700=)	NC_000001.10:g.155408846G>A	(Likely) benign	1 lab	9471a279a7
8:68536250 CPA6 T>C	8	68536250	68536250	T	C	CPA6	c.192+161A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68536250T>C	(Likely) benign	1 lab	94737ec3a0
14:50120933 POLE2 C>A	14	50120933	50120933	C	A	POLE2	c.1074-1G>T	NM_002692.4	NP_002683.2:p.?	NC_000014.8:g.50120933C>A	VUS	1 lab	d3aaab6156
4:79258843 FRAS1 G>A	4	79258843	79258843	G	A	FRAS1	c.2294G>A	NM_025074.7	NP_079350.5:p.(Cys765Tyr)	NC_000004.11:g.79258843G>A	VUS	1 lab	9477d723e3
1:237850821 RYR2 A>C	1	237850821	237850821	A	C	RYR2	c.9067+17A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850821A>C	(Likely) benign	1 lab	94789f091c
8:31497850 NRG1 C>T	8	31497850	31497850	C	T	NRG1	c.350C>T	NM_013962.2	NP_039256.2:p.(Pro117Leu)	NC_000008.10:g.31497850C>T	(Likely) benign	1 lab	947cb9b1cb
1:247588631 NLRP3 A>G	1	247588631	247588631	A	G	NLRP3	c.1880A>G	NM_001243133.2	NP_001230062.1:p.(Glu627Gly)	NC_000001.10:g.247588631A>G	(Likely) pathogenic	1 lab	94841476c2
12:6442956 TNFRSF1A G>T	12	6442956	6442956	G	T	TNFRSF1A	c.269C>A	NM_001065.3	NP_001056.1:p.(Thr90Asn)	NC_000012.11:g.6442956G>T	(Likely) pathogenic	1 lab	9491bb8c51
12:14019128 GRIN2B C>T	12	14019128	14019128	C	T	GRIN2B	c.15G>A	NM_000834.4	NP_000825.2:p.(Ala5=)	NC_000012.11:g.14019128C>T	(Likely) benign	1 lab	949478642c
19:41012135 SPTBN4 G>A	19	41012135	41012135	G	A	SPTBN4	c.1666-8G>A	NM_020971.3	NP_066022.2:p.?	NC_000019.9:g.41012135G>A	(Likely) benign	1 lab	94a038bdfe
1:16057046 PLEKHM2 G>A	1	16057046	16057046	G	A	PLEKHM2	c.2228G>A	NM_015164.4	NP_055979.2:p.(Arg743His)	NC_000001.10:g.16057046G>A	(Likely) benign	1 lab	94a2539e4e
10:60562953 BICC1 A>C	10	60562953	60562953	A	C	BICC1	c.2132A>C	NM_001080512.3	NP_001073981.1:p.(Asn711Thr)	NC_000010.10:g.60562953A>C	(Likely) benign	1 lab	94a4d2cf19
X:43601301 MAOA C>T	X	43601301	43601301	C	T	MAOA	c.863+7C>T	NM_001270458.1	NP_001257387.1:p.?	NC_000023.10:g.43601301C>T	(Likely) benign	1 lab	94a58deff9
14:65230322 SPTB A>G	14	65230322	65230322	A	G	SPTB	c.6345+3122T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65230322A>G	(Likely) benign	1 lab	94a60d0d1d
20:31384647 DNMT3B T>C	20	31384647	31384647	T	C	DNMT3B	c.1349T>C	NM_006892.3	NP_008823.1:p.(Phe450Ser)	NC_000020.10:g.31384647T>C	(Likely) benign	1 lab	94a8134cee
1:160094892 ATP1A2 C>G	1	160094892	160094892	C	G	ATP1A2				NC_000001.10:g.160094892C>G	(Likely) benign	1 lab	94a9bf6e0b
9:128086101 GAPVD1 T>C	9	128086101	128086101	T	C	GAPVD1	c.1757T>C	NM_001282679.2	NP_001269608.1:p.(Val586Ala)	NC_000009.11:g.128086101T>C	(Likely) benign	1 lab	94ac0d07c7
9:35091686 PIGO C>T	9	35091686	35091686	C	T	PIGO	c.2198G>A	NM_032634.4	NP_116023.2:p.(Arg733Gln)	NC_000009.11:g.35091686C>T	(Likely) benign	1 lab	94acea9195
14:29237968 FOXG1 C>A	14	29237968	29237968	C	A	FOXG1	c.*13C>A	NM_005249.5	NP_005240.3:p.?	NC_000014.8:g.29237968C>A	(Likely) benign	1 lab	94acfe8928
21:34038427 SYNJ1 A>G	21	34038427	34038427	A	G	SYNJ1	c.2088T>C	NM_203446.2	NP_982271.2:p.(Thr696=)	NC_000021.8:g.34038427A>G	(Likely) benign	1 lab	94af43dcfe
4:123227167 BLTP1 A>G	4	123227167	123227167	A	G	BLTP1	c.9808A>G	NM_015312.4	NP_056127.2:p.(Ile3270Val)	NC_000004.11:g.123227167A>G	VUS	1 lab	d3ae4080c8
1:158632583 SPTA1 G>T	1	158632583	158632583	G	T	SPTA1	c.2373C>A	NM_003126.3	NP_003117.2:p.(Asp791Glu)	NC_000001.10:g.158632583G>T	(Likely) pathogenic	1 lab	94b212f034
6:3225489 TUBB2B G>C	6	3225489	3225489	G	C	TUBB2B	c.834C>G	NM_178012.5	NP_821080.1:p.(Ser278Arg)	NC_000006.11:g.3225489G>C	(Likely) pathogenic	1 lab	94b75e793e
1:29385486 EPB41 G>C	1	29385486	29385486	G	C	EPB41	c.1275+329G>C	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29385486G>C	(Likely) benign	1 lab	94bc25f610
1:247587154 NLRP3 C>T	1	247587154	247587154	C	T	NLRP3	c.403C>T	NM_001243133.2	NP_001230062.1:p.(Arg135Cys)	NC_000001.10:g.247587154C>T	(Likely) benign	1 lab	94bc777b4a
8:2017388 MYOM2 C>T	8	2017388	2017388	C	T	MYOM2	c.654-9C>T	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2017388C>T	(Likely) benign	1 lab	94beb4c92a
17:3561451 CTNS G>A	17	3561451	3561451	G	A	CTNS	c.834G>A	NM_004937.3	NP_004928.2:p.(Leu278=)	NC_000017.10:g.3561451G>A	(Likely) benign	1 lab	94c24f1475
19:33882337 PEPD T>G	19	33882337	33882337	T	G	PEPD	c.1016A>C	NM_000285.4	NP_000276.2:p.(Glu339Ala)	NC_000019.9:g.33882337T>G	(Likely) benign	1 lab	94c7314206
14:65234148 SPTB G>A	14	65234148	65234148	G	A	SPTB	c.6220-78C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234148G>A	(Likely) benign	1 lab	94c74bf695
12:6442714 TNFRSF1A T>C	12	6442714	6442714	T	C	TNFRSF1A	c.323-32A>G	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442714T>C	(Likely) benign	1 lab	94c9382bd4
16:50745318 NOD2 T>A	16	50745318	50745318	T	A	NOD2	c.1496T>A	NM_022162.1	NP_071445.1:p.(Leu499Gln)	NC_000016.9:g.50745318T>A	(Likely) pathogenic	1 lab	94c93ea0a8
10:18689976 CACNB2 A>T	10	18689976	18689976	A	T	CACNB2	c.16A>T	NM_201570.3	NP_963864.1:p.(Ile6Phe)	NC_000010.10:g.18689976A>T	(Likely) benign	1 lab	94c9efc3ec
1:206566687 MISSING G>A	1	206566687	206566687	G	A	MISSING				NC_000001.10:g.206566687G>A	(Likely) benign	1 lab	94ce9bacb6
7:128492977 FLNC G>C	7	128492977	128492977	G	C	FLNC	c.6100G>C	NM_001458.4	NP_001449.3:p.(Gly2034Arg)	NC_000007.13:g.128492977G>C	(Likely) pathogenic	1 lab	94cede753b
9:6553497 GLDC G>A	9	6553497	6553497	G	A	GLDC	c.2328C>T	NM_000170.2	NP_000161.2:p.(Leu776=)	NC_000009.11:g.6553497G>A	(Likely) benign	1 lab	94d14eaf35
2:167138322 SCN9A A>T	2	167138322	167138322	A	T	SCN9A	c.1942-4T>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138322A>T	(Likely) benign	1 lab	94d4f9058e
11:47361308 MYBPC3 C>T	11	47361308	47361308	C	T	MYBPC3	c.1961G>A	NM_000256.3	NP_000247.2:p.(Arg654His)	NC_000011.9:g.47361308C>T	VUS	1 lab	94d7bf86cf
5:161300386 GABRA1 C>A	5	161300386	161300386	C	A	GABRA1	c.476+43C>A	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161300386C>A	(Likely) benign	1 lab	94e1139548
5:170837545 NPM1 C>CTGCG	5	170837545	170837548	C	CTGCG	NPM1	c.863_864insCGTG	NM_002520.6	NP_002511.1:p.(Trp288CysfsTer12)	NC_000005.9:g.170837547_170837548insCGTG	(Likely) pathogenic	1 lab	94e7c8c2cc
21:34666555 IL10RB T>G	21	34666555	34666555	T	G	IL10RB				NC_000021.8:g.34666555T>G	(Likely) benign	1 lab	94eac5bace
5:74014637 HEXB A>G	5	74014637	74014637	A	G	HEXB	c.1258A>G	NM_000521.3	NP_000512.1:p.(Ile420Val)	NC_000005.9:g.74014637A>G	(Likely) benign	1 lab	94ec108dcb
2:179428060 TTN G>C	2	179428060	179428060	G	C	TTN	c.55979C>G	NM_133432.3	NP_597676.3:p.(Ala18660Gly)	NC_000002.11:g.179428060G>C	VUS	1 lab	94ecc0128a
10:112572502 RBM20 A>G	10	112572502	112572502	A	G	RBM20	c.2347A>G	NM_001134363.1	NP_001127835.1:p.(Arg783Gly)	NC_000010.10:g.112572502A>G	VUS	1 lab	94ed4804ac
2:179550243 TTN A>G	2	179550243	179550243	A	G	TTN	c.32392+2T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179550243A>G	VUS	1 lab	94f1dbc387
8:41574290 ANK1 C>T	8	41574290	41574290	C	T	ANK1	c.1503+181G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41574290C>T	(Likely) benign	1 lab	94fa678aa5
X:12809661 PRPS2 G>A	X	12809661	12809661	G	A	PRPS2	c.45G>A	NM_001039091.3	NP_001034180.1:p.(Leu15=)	NC_000023.10:g.12809661G>A	(Likely) benign	1 lab	d3afdb74dd
X:154221366 F8 G>C	X	154221366	154221366	G	C	F8	c.446C>G	NM_000132.3	NP_000123.1:p.(Pro149Arg)	NC_000023.10:g.154221366G>C	(Likely) pathogenic	1 lab	94fc21e75c
2:109380028 RANBP2 G>A	2	109380028	109380028	G	A	RANBP2	c.3033G>A	NM_006267.4	NP_006258.3:p.(Pro1011=)	NC_000002.11:g.109380028G>A	(Likely) benign	1 lab	94fd0cbca3
19:42861067 MEGF8 C>T	19	42861067	42861067	C	T	MEGF8	c.4563C>T	NM_001410.3	NP_001401.2:p.(Thr1521=)	NC_000019.9:g.42861067C>T	(Likely) benign	1 lab	9500eff641
1:155264280 PKLR C>G	1	155264280	155264280	C	G	PKLR	c.958G>C	NM_000298.6	NP_000289.1:p.(Val320Leu)	NC_000001.10:g.155264280C>G	(Likely) benign	1 lab	950268d9b2
2:189974955 COL5A2 A>ATGT	2	189974955	189974957	A	ATGT	COL5A2	c.317_318insACA	NM_000393.5	NP_000384.2:p.(Asn106delinsLysHis)	NC_000002.11:g.189974956_189974957insGTT	VUS	1 lab	9502d6ff85
11:117280645 CEP164 G>A	11	117280645	117280645	G	A	CEP164	c.4060G>A	NM_014956.5	NP_055771.4:p.(Asp1354Asn)	NC_000011.9:g.117280645G>A	(Likely) benign	1 lab	95041a7469
12:6458565 SCNN1A C>T	12	6458565	6458565	C	T	SCNN1A	c.1367G>A	NM_001038.6	NP_001029.1:p.(Cys456Tyr)	NC_000012.11:g.6458565C>T	VUS	1 lab	95058d7385
17:37922691 IKZF3 T>C	17	37922691	37922691	T	C	IKZF3	c.882A>G	NM_012481.5	NP_036613.2:p.(Lys294=)	NC_000017.10:g.37922691T>C	(Likely) benign	1 lab	950bd27c8d
16:2111779 TSC2 T>C	16	2111779	2111779	T	C	TSC2	c.1120-93T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2111779T>C	(Likely) benign	1 lab	950e73cf55
2:27461435 CAD C>T	2	27461435	27461435	C	T	CAD	c.4997C>T	NM_004341.5	NP_004332.2:p.(Ser1666Phe)	NC_000002.11:g.27461435C>T	VUS	1 lab	d3b54094a5
6:49585765 RHAG A>G	6	49585765	49585765	A	G	RHAG	c.492+16T>C	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49585765A>G	(Likely) benign	1 lab	950f5f1d60
10:95892014 PLCE1 G>A	10	95892014	95892014	G	A	PLCE1	c.1290G>A	NM_016341.3	NP_057425.3:p.(Glu430=)	NC_000010.10:g.95892014G>A	(Likely) benign	1 lab	950fc4835a
11:124761570 ROBO4 C>A	11	124761570	124761570	C	A	ROBO4	c.1676G>T	NM_019055.6	NP_061928.4:p.(Arg559Leu)	NC_000011.9:g.124761570C>A	(Likely) benign	1 lab	d3b5b8393a
9:131392593 SPTAN1 C>T	9	131392593	131392593	C	T	SPTAN1	c.6708-7C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131392593C>T	(Likely) benign	1 lab	9518601071
15:80450383 FAH G>A	15	80450383	80450383	G	A	FAH	c.82-19G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80450383G>A	(Likely) benign	1 lab	9519363634
X:31140012 DMD C>T	X	31140012	31140012	C	T	DMD	c.3670G>A	NM_004021.3	NP_004012.2:p.(Asp1224Asn)	NC_000023.10:g.31140012C>T	(Likely) benign	1 lab	951ab30602
6:31950651 C4A C>G	6	31950651	31950651	C	G	C4A	c.421C>G	NM_007293.3	NP_009224.2:p.(Leu141Val)	NC_000006.11:g.31950651C>G	(Likely) benign	1 lab	d3b661fee1
6:31962174 C4A A>G	6	31962174	31962174	A	G	C4A	c.2592+13A>G	NM_007293.2	NP_009224.2:p.?	NC_000006.11:g.31962174A>G	(Likely) benign	1 lab	951f0a75ef
3:136046086 PCCB A>C	3	136046086	136046086	A	C	PCCB	c.1348A>C	NM_001178014.1	NP_001171485.1:p.(Ile450Leu)	NC_000003.11:g.136046086A>C	VUS	1 lab	951f4a4e21
5:40981537 C7 G>A	5	40981537	40981537	G	A	C7	c.2394G>A	NM_000587.2	NP_000578.2:p.(Glu798=)	NC_000005.9:g.40981537G>A	(Likely) benign	1 lab	952028881a
1:207963618 CD46 C>T	1	207963618	207963618	C	T	CD46	c.1148C>T	NM_002389.4	NP_002380.3:p.(Thr383Ile)	NC_000001.10:g.207963618C>T	(Likely) benign	1 lab	951d52a18b
10:17032530 CUBN G>A	10	17032530	17032530	G	A	CUBN	c.4169-16C>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17032530G>A	(Likely) benign	1 lab	9527073afb
6:20490464 E2F3 G>T	6	20490464	20490464	G	T	E2F3	c.1201G>T	NM_001949.5	NP_001940.1:p.(Ala401Ser)	NC_000006.11:g.20490464G>T	(Likely) benign	1 lab	9527e8a7e3
7:111512117 DOCK4 G>A	7	111512117	111512117	G	A	DOCK4	c.1956C>T	NM_014705.4	NP_055520.3:p.(Ser652=)	NC_000007.13:g.111512117G>A	(Likely) benign	1 lab	9528895af2
9:116153389 ALAD C>T	9	116153389	116153389	C	T	ALAD	c.262-176G>A	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116153389C>T	(Likely) benign	1 lab	952c4e9953
15:93499531 CHD2 A>G	15	93499531	93499531	A	G	CHD2	c.1810-158A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93499531A>G	(Likely) benign	1 lab	9532096486
11:65347942 EHBP1L1 C>G	11	65347942	65347942	C	G	EHBP1L1	c.626C>G	NM_001099409.3	NP_001092879.1:p.(Pro209Arg)	NC_000011.9:g.65347942C>G	(Likely) benign	1 lab	95349440b5
1:158595824 SPTA1 T>C	1	158595824	158595824	T	C	SPTA1	c.5910+112A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158595824T>C	(Likely) benign	1 lab	9534c07a3e
4:79173525 FRAS1 T>C	4	79173525	79173525	T	C	FRAS1	c.310-21T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79173525T>C	(Likely) benign	1 lab	9535318999
17:42327850 SLC4A1 G>A	17	42327850	42327850	G	A	SLC4A1	c.2712C>T	NM_000342.4	NP_000333.1:p.(Tyr904=)	NC_000017.10:g.42327850G>A	(Likely) benign	1 lab	9535732d00
4:79420787 FRAS1 C>T	4	79420787	79420787	C	T	FRAS1	c.9116-88C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420787C>T	(Likely) benign	1 lab	953644152f
16:53672418 RPGRIP1L T>C	16	53672418	53672418	T	C	RPGRIP1L	c.2959-95A>G	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53672418T>C	(Likely) benign	1 lab	95373d047f
18:50450240 DCC T>G	18	50450240	50450240	T	G	DCC	c.848+13T>G	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50450240T>G	(Likely) benign	1 lab	d3bca4d110
1:247587444 NLRP3 A>T	1	247587444	247587444	A	T	NLRP3	c.693A>T	NM_001243133.2	NP_001230062.1:p.(Thr231=)	NC_000001.10:g.247587444A>T	(Likely) benign	1 lab	9539f0e2a6
14:99697753 BCL11B G>A	14	99697753	99697753	G	A	BCL11B	c.569C>T	NM_138576.4	NP_612808.1:p.(Pro190Leu)	NC_000014.8:g.99697753G>A	(Likely) benign	1 lab	953b733e80
19:2111770 AP3D1 C>T	19	2111770	2111770	C	T	AP3D1	c.2845G>A	NM_001261826.3	NP_001248755.1:p.(Gly949Ser)	NC_000019.9:g.2111770C>T	(Likely) benign	1 lab	953d5e6da8
6:86229089 SNX14 Ref too long to show for this DEL>C	6	86229089	86256247	Ref too long to show for this DEL	C	SNX14	c.1108+583_2108-1324del	NM_153816.6	NP_722523.1:p.?	NC_000006.11:g.86229090_86256247del	(Likely) pathogenic	1 lab	d3c054c22b
2:168106085 XIRP2 G>A	2	168106085	168106085	G	A	XIRP2	c.8183G>A	NM_152381.6	NP_689594.4:p.(Ser2728Asn)	NC_000002.11:g.168106085G>A	(Likely) benign	1 lab	9546999079
15:48729286 FBN1 GA>G	15	48729286	48729294	GA	G	FBN1	c.6380-13del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48729294del	(Likely) benign	1 lab	9546b53cad
X:100630242 BTK G>A	X	100630242	100630242	G	A	BTK	c.31C>T	NM_000061.2	NP_000052.1:p.(Leu11=)	NC_000023.10:g.100630242G>A	(Likely) pathogenic	1 lab	9548010fa5
2:169791907 ABCB11 C>A	2	169791907	169791907	C	A	ABCB11	c.2843G>T	NM_003742.4	NP_003733.2:p.(Arg948Leu)	NC_000002.11:g.169791907C>A	(Likely) pathogenic	1 lab	d3c19245bd
1:9778916 PIK3CD C>T	1	9778916	9778916	C	T	PIK3CD	c.1185C>T	NM_005026.3	NP_005017.3:p.(Tyr395=)	NC_000001.10:g.9778916C>T	(Likely) benign	1 lab	954d6264e4
9:139265409 CARD9 C>T	9	139265409	139265409	C	T	CARD9	c.511G>A	NM_052813.4	NP_434700.2:p.(Gly171Ser)	NC_000009.11:g.139265409C>T	(Likely) benign	1 lab	954dfe92a9
3:49548163 DAG1 G>A	3	49548163	49548163	G	A	DAG1	c.196G>A	NM_004393.6	NP_004384.5:p.(Gly66Ser)	NC_000003.11:g.49548163G>A	VUS	1 lab	d3c64ba706
11:64572060 MEN1 G>A	11	64572060	64572060	G	A	MEN1	c.1594C>T	NM_130803.2	NP_570715.1:p.(Arg532Ter)	NC_000011.9:g.64572060G>A	(Likely) pathogenic	1 lab	95500ccfed
1:247587653 NLRP3 G>A	1	247587653	247587653	G	A	NLRP3	c.902G>A	NM_001243133.2	NP_001230062.1:p.(Gly301Asp)	NC_000001.10:g.247587653G>A	VUS	1 lab	95580a1509
16:67679636 CARMIL2 C>T	16	67679636	67679636	C	T	CARMIL2	c.142C>T	NM_001013838.3	NP_001013860.1:p.(Arg48Ter)	NC_000016.9:g.67679636C>T	(Likely) pathogenic	1 lab	955a1c32df
8:48694824 PRKDC G>A	8	48694824	48694824	G	A	PRKDC	c.11397-9C>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48694824G>A	(Likely) benign	1 lab	955a502048
15:57918090 MYZAP A>G	15	57918090	57918090	A	G	MYZAP	c.525=	NM_001018100.5	NP_001018110.1:p.(Gln175=)	NC_000015.9:g.57918090A>G	(Likely) benign	1 lab	955d0c3c1b
1:247611981 NLRP3 TC>T	1	247611981	247611983	TC	T	NLRP3	c.*177del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247611983del	(Likely) benign	1 lab	955dd13784
9:130605433 ENG G>T	9	130605433	130605433	G	T	ENG	c.159C>A	NM_000118.3	NP_000109.1:p.(Cys53Ter)	NC_000009.11:g.130605433G>T	(Likely) pathogenic	1 lab	955eb5820f
12:110012649 MVK G>A	12	110012649	110012649	G	A	MVK	c.22G>A	NM_000431.2	NP_000422.1:p.(Val8Met)	NC_000012.11:g.110012649G>A	VUS	1 lab	9561279159
17:7125263 ACADVL C>T	17	7125263	7125263	C	T	ACADVL	c.623-8C>T	NM_000018.4	NP_000009.1:p.?	NC_000017.10:g.7125263C>T	(Likely) benign	1 lab	9562455177
3:38622480 SCN5A T>C	3	38622480	38622480	T	C	SCN5A	c.3170A>G	NM_001099404.1	NP_001092874.1:p.(Asp1057Gly)	NC_000003.11:g.38622480T>C	VUS	1 lab	956265f1ae
15:91341467 BLM AT>A	15	91341467	91341470	AT	A	BLM	c.3261del	NM_000057.4	NP_000048.1:p.(Phe1087LeufsTer11)	NC_000015.9:g.91341470del	(Likely) pathogenic	1 lab	95685764fb
16:56904050 SLC12A3 T>C	16	56904050	56904050	T	C	SLC12A3	c.644T>C	NM_000339.3	NP_000330.3:p.(Leu215Pro)	NC_000016.9:g.56904050T>C	(Likely) pathogenic	1 lab	9572bf86e4
20:50408614 SALL4 A>G	20	50408614	50408614	A	G	SALL4	c.408T>C	NM_020436.3	NP_065169.1:p.(Asn136=)	NC_000020.10:g.50408614A>G	(Likely) benign	1 lab	9581a4a1c7
12:53452382 TNS2 G>A	12	53452382	53452382	G	A	TNS2	c.1282G>A	NM_015319.2	NP_056134.2:p.(Val428Met)	NC_000012.11:g.53452382G>A	(Likely) benign	1 lab	9583e53c42
8:68396734 CPA6 TG>T	8	68396734	68396735	TG	T	CPA6	c.747+179del	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68396735del	(Likely) benign	1 lab	9587463d37
16:89598760 SPG7 A>G	16	89598760	89598760	A	G	SPG7	c.1151-111A>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89598760A>G	(Likely) benign	1 lab	9593ef8016
10:78674611 KCNMA1 A>G	10	78674611	78674611	A	G	KCNMA1	c.2854+83T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78674611A>G	(Likely) benign	1 lab	9597eeb7b8
12:69090669 NUP107 T>C	12	69090669	69090669	T	C	NUP107	c.519T>C	NM_020401.4	NP_065134.1:p.(Leu173=)	NC_000012.11:g.69090669T>C	(Likely) benign	1 lab	959b389758
19:2129394 AP3D1 G>A	19	2129394	2129394	G	A	AP3D1	c.655C>T	NM_001261826.3	NP_001248755.1:p.(Leu219=)	NC_000019.9:g.2129394G>A	(Likely) benign	1 lab	959d41fb30
6:51720686 PKHD1 G>T	6	51720686	51720686	G	T	PKHD1	c.7911+5C>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51720686G>T	(Likely) benign	1 lab	95a35a092d
6:10874563 GCM2 G>GCTGGTAGGC	6	10874563	10874580	G	GCTGGTAGGC	GCM2	c.1177_1185dup	NM_004752.4	NP_004743.1:p.(Ala393_Gln395dup)	NC_000006.11:g.10874572_10874580dup	(Likely) benign	1 lab	95a53932ee
6:7565699 DSP G>A	6	7565699	7565699	G	A	DSP	c.885G>A	NM_004415.2	NP_004406.2:p.(Leu295=)	NC_000006.11:g.7565699G>A	(Likely) benign	1 lab	95a9f8ec32
9:138594291 KCNT1 C>T	9	138594291	138594291	C	T	KCNT1	c.110+77C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138594291C>T	(Likely) benign	1 lab	95ab8d80ac
3:64599013 ADAMTS9 C>A	3	64599013	64599013	C	A	ADAMTS9	c.3354+8G>T	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64599013C>A	(Likely) benign	1 lab	95ba4f5e3a
11:20622730 SLC6A5 C>T	11	20622730	20622730	C	T	SLC6A5	c.59C>T	NM_004211.5	NP_004202.4:p.(Ala20Val)	NC_000011.9:g.20622730C>T	(Likely) benign	1 lab	95bc241710
1:205764031 SLC41A1 G>A	1	205764031	205764031	G	A	SLC41A1	c.1323C>T	NM_173854.6	NP_776253.3:p.(Phe441=)	NC_000001.10:g.205764031G>A	(Likely) benign	1 lab	95bc9a2184
9:139261236 CARD9 G>A	9	139261236	139261236	G	A	CARD9	c.1357+16C>T	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139261236G>A	(Likely) benign	1 lab	95be7f1f08
16:2134360 TSC2 G>A	16	2134360	2134360	G	A	TSC2	c.4137G>A	NM_000548.3	NP_000539.2:p.(Ser1379=)	NC_000016.9:g.2134360G>A	(Likely) benign	1 lab	95c1ec32e2
5:79025828 CMYA5 G>A	5	79025828	79025828	G	A	CMYA5	c.1240G>A	NM_153610.5	NP_705838.3:p.(Val414Ile)	NC_000005.9:g.79025828G>A	(Likely) benign	1 lab	95c24d11fe
11:5730343 TRIM22 G>A	11	5730343	5730343	G	A	TRIM22	c.962G>A	NM_006074.5	NP_006065.2:p.(Arg321Lys)	NC_000011.9:g.5730343G>A	(Likely) benign	1 lab	95c48012d2
18:20548813 RBBP8 A>G	18	20548813	20548813	A	G	RBBP8	c.293A>G	NM_002894.3	NP_002885.1:p.(His98Arg)	NC_000018.9:g.20548813A>G	VUS	1 lab	d3d18bc478
13:41639425 WBP4 T>TAA	13	41639425	41639446	T	TAA	WBP4	c.262+22_262+23dup	NM_007187.5	NP_009118.1:p.?	NC_000013.10:g.41639445_41639446dup	(Likely) benign	1 lab	95c7a8c9bd
16:81892041 PLCG2 GGGA>G	16	81892041	81892044	GGGA	G	PLCG2	c.431+81_431+83del	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81892042_81892044del	(Likely) benign	1 lab	95c96e5e7b
6:110036315 FIG4 C>T	6	110036315	110036315	C	T	FIG4	c.101C>T	NM_014845.6	NP_055660.1:p.(Thr34Met)	NC_000006.11:g.110036315C>T	VUS	1 lab	da1394d5f2
19:54299245 NLRP12 T>G	19	54299245	54299245	T	G	NLRP12	c.2966A>C	NM_144687.4	NP_653288.1:p.(Asn989Thr)	NC_000019.9:g.54299245T>G	(Likely) benign	1 lab	95c9cdaf9f
16:56368781 GNAO1 A>C	16	56368781	56368781	A	C	GNAO1	c.593+12A>C	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56368781A>C	(Likely) benign	1 lab	95c9f2c645
8:41585571 ANK1 C>T	8	41585571	41585571	C	T	ANK1	c.328-47G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41585571C>T	(Likely) benign	1 lab	95ca735362
6:32940808 BRD2 G>C	6	32940808	32940808	G	C	BRD2	c.29+104G>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32940808G>C	(Likely) benign	1 lab	95cb8b310f
14:23857147 MYH6 G>A	14	23857147	23857147	G	A	MYH6	c.4360-15C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23857147G>A	(Likely) benign	1 lab	95d42331e3
15:72864437 ARIH1 A>C	15	72864437	72864437	A	C	ARIH1	c.1158-12A>C	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72864437A>C	(Likely) benign	1 lab	95d72a8e76
13:39420599 FREM2 G>A	13	39420599	39420599	G	A	FREM2	c.6020-111G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39420599G>A	(Likely) benign	1 lab	95d760317b
12:6443045 TNFRSF1A C>T	12	6443045	6443045	C	T	TNFRSF1A	c.194-14G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6443045C>T	(Likely) pathogenic	1 lab	95debf7785
2:71185452 ATP6V1B1 T>A	2	71185452	71185452	T	A	ATP6V1B1	c.274-11T>A	NM_001692.4	NP_001683.2:p.?	NC_000002.11:g.71185452T>A	VUS	1 lab	95e104c183
3:8787404 CAV3 G>T	3	8787404	8787404	G	T	CAV3	c.307G>T	NM_033337.2	NP_203123.1:p.(Val103Leu)	NC_000003.11:g.8787404G>T	(Likely) benign	1 lab	95e49eb9dc
7:135269638 NUP205 C>T	7	135269638	135269638	C	T	NUP205	c.1101C>T	NM_015135.2	NP_055950.1:p.(Asn367=)	NC_000007.13:g.135269638C>T	(Likely) benign	1 lab	95e5b6637f
7:36461575 ANLN A>C	7	36461575	36461575	A	C	ANLN	c.2273A>C	NM_018685.5	NP_061155.2:p.(Glu758Ala)	NC_000007.13:g.36461575A>C	VUS	1 lab	95ec54d492
2:179577629 TTN G>A	2	179577629	179577629	G	A	TTN	c.27123C>T	NM_001267550.1	NP_001254479.1:p.(Ile9041=)	NC_000002.11:g.179577629G>A	(Likely) benign	1 lab	95f40d0064
16:3304415 MEFV C>G	16	3304415	3304415	C	G	MEFV	c.653G>C	NM_000243.2	NP_000234.1:p.(Gly218Ala)	NC_000016.9:g.3304415C>G	VUS	1 lab	95f44ae87b
13:108861819 LIG4 C>T	13	108861819	108861819	C	T	LIG4	c.1798G>A	NM_002312.3	NP_002303.2:p.(Glu600Lys)	NC_000013.10:g.108861819C>T	(Likely) benign	1 lab	95ff82cbe0
1:167409908 CD247 C>T	1	167409908	167409908	C	T	CD247	c.155G>A	NM_198053.2	NP_932170.1:p.(Arg52Lys)	NC_000001.10:g.167409908C>T	(Likely) benign	1 lab	96030fd0b8
17:42336609 SLC4A1 A>G	17	42336609	42336609	A	G	SLC4A1	c.798T>C	NM_000342.4	NP_000333.1:p.(Phe266=)	NC_000017.10:g.42336609A>G	(Likely) benign	1 lab	960518fbb1
11:67767142 UNC93B1 C>T	11	67767142	67767142	C	T	UNC93B1	c.401G>A	NM_030930.2	NP_112192.2:p.(Gly134Glu)	NC_000011.9:g.67767142C>T	VUS	1 lab	9606919e6d
11:17482227 ABCC8 C>T	11	17482227	17482227	C	T	ABCC8	c.823-4G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17482227C>T	(Likely) benign	1 lab	d3d66063ad
2:166180071 SCN2A GT>G	2	166180071	166180076	GT	G	SCN2A	c.2016+66del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166180076del	(Likely) benign	1 lab	960b350cd2
9:22008919 CDKN2B C>T	9	22008919	22008919	C	T	CDKN2B	c.34G>A	NM_004936.4	NP_004927.2:p.(Gly12Ser)	NC_000009.11:g.22008919C>T	(Likely) benign	1 lab	960f4fd508
12:56748659 STAT2 G>A	12	56748659	56748659	G	A	STAT2	c.548-12C>T	NM_005419.4	NP_005410.1:p.?	NC_000012.11:g.56748659G>A	(Likely) benign	1 lab	96111d6352
15:93552277 CHD2 TA>T	15	93552277	93552278	TA	T	CHD2	c.4414-97del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93552278del	(Likely) benign	1 lab	9613ae72b3
9:137716561 COL5A1 C>T	9	137716561	137716561	C	T	COL5A1	c.4814C>T	NM_000093.4	NP_000084.3:p.(Ala1605Val)	NC_000009.11:g.137716561C>T	(Likely) benign	1 lab	9616e8bde1
5:169503085 DOCK2 G>A	5	169503085	169503085	G	A	DOCK2	c.4863G>A	NM_004946.3	NP_004937.1:p.(Glu1621=)	NC_000005.9:g.169503085G>A	(Likely) benign	1 lab	96182efae2
20:45354457 SLC2A10 T>C	20	45354457	45354457	T	C	SLC2A10	c.782T>C	NM_030777.4	NP_110404.1:p.(Val261Ala)	NC_000020.10:g.45354457T>C	VUS	1 lab	961b23d042
13:32968967 BRCA2 C>G	13	32968967	32968967	C	G	BRCA2	c.9398C>G	NM_000059.3	NP_000050.2:p.(Ser3133Ter)	NC_000013.10:g.32968967C>G	(Likely) pathogenic	1 lab	961e0db7b7
1:78392307 NEXN G>C	1	78392307	78392307	G	C	NEXN	c.687+11G>C	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78392307G>C	(Likely) benign	1 lab	961e57764d
8:27320726 CHRNA2 C>T	8	27320726	27320726	C	T	CHRNA2	c.1234G>A	NM_000742.4	NP_000733.2:p.(Glu412Lys)	NC_000008.10:g.27320726C>T	(Likely) benign	1 lab	961eef9b1d
X:154091418 F8 G>A	X	154091418	154091418	G	A	F8	c.6514C>T	NM_000132.3	NP_000123.1:p.(Pro2172Ser)	NC_000023.10:g.154091418G>A	(Likely) pathogenic	1 lab	96216c4c7f
17:48264410 COL1A1 C>G	17	48264410	48264410	C	G	COL1A1	c.3497G>C	NM_000088.4	NP_000079.2:p.(Gly1166Ala)	NC_000017.10:g.48264410C>G	(Likely) pathogenic	1 lab	da168c83e1
21:45193990 CSTB T>C	21	45193990	45193990	T	C	CSTB	c.*93A>G	NM_000100.3	NP_000091.1:p.?	NC_000021.8:g.45193990T>C	(Likely) benign	1 lab	96270ca7b9
21:34648887 IL10RB T>G	21	34648887	34648887	T	G	IL10RB				NC_000021.8:g.34648887T>G	(Likely) benign	1 lab	9629cfea6c
2:95715308 MAL A>G	2	95715308	95715308	A	G	MAL	c.262-18A>G	NM_002371.4	NP_002362.1:p.?	NC_000002.11:g.95715308A>G	(Likely) benign	1 lab	962a5f78b2
12:98931341 TMPO G>A	12	98931341	98931341	G	A	TMPO	c.654G>A	NM_001032283.2	NP_001027454.1:p.(Glu218=)	NC_000012.11:g.98931341G>A	(Likely) benign	1 lab	962da97d14
10:104596891 CYP17A1 G>A	10	104596891	104596891	G	A	CYP17A1	c.228C>T	NM_000102.4	NP_000093.1:p.(Val76=)	NC_000010.10:g.104596891G>A	(Likely) benign	1 lab	962f3bbe40
5:90069894 ADGRV1 G>C	5	90069894	90069894	G	C	ADGRV1	c.12286-109G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90069894G>C	(Likely) benign	1 lab	9639d8a3c8
4:187005785 TLR3 A>AT	4	187005785	187005792	A	AT	TLR3	c.2487-7dup	NM_003265.2	NP_003256.1:p.?	NC_000004.11:g.187005792dup	(Likely) benign	1 lab	963a925282
19:55452194 NLRP7 CA>C	19	55452194	55452208	CA	C	NLRP7	c.352+104del	NM_001127255.2	NP_001120727.1:p.?	NC_000019.9:g.55452208del	(Likely) benign	1 lab	963a9cd521
13:39433728 FREM2 G>A	13	39433728	39433728	G	A	FREM2	c.7519+1G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39433728G>A	VUS	1 lab	963c9c7cdf
8:143958081 CYP11B1 C>T	8	143958081	143958081	C	T	CYP11B1	c.799+17G>A	NM_000497.3	NP_000488.3:p.?	NC_000008.10:g.143958081C>T	(Likely) benign	1 lab	963df865c0
3:190030683 CLDN1 C>T	3	190030683	190030683	C	T	CLDN1	c.366G>A	NM_021101.5	NP_066924.1:p.(Gly122=)	NC_000003.11:g.190030683C>T	(Likely) benign	1 lab	9641d3549c
1:235996972 LYST A>C	1	235996972	235996972	A	C	LYST	c.-97-5T>G	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235996972A>C	(Likely) benign	1 lab	96426038b3
12:52310035 ACVRL1 A>C	12	52310035	52310035	A	C	ACVRL1	c.1246+18A>C	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52310035A>C	(Likely) benign	1 lab	9642fff091
3:64644328 ADAMTS9 C>T	3	64644328	64644328	C	T	ADAMTS9	c.819G>A	NM_182920.2	NP_891550.1:p.(Thr273=)	NC_000003.11:g.64644328C>T	(Likely) benign	1 lab	964c53887f
12:56082506 ITGA7 CA>C	12	56082506	56082520	CA	C	ITGA7	c.2958+121del	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56082520del	(Likely) benign	1 lab	964d0ae99c
X:31198530 DMD T>C	X	31198530	31198530	T	C	DMD	c.9674A>G	NM_004010.3	NP_004001.1:p.(Lys3225Arg)	NC_000023.10:g.31198530T>C	VUS	1 lab	964d48d659
4:151827146 LRBA C>A	4	151827146	151827146	C	A	LRBA	c.1603-4G>T	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151827146C>A	(Likely) benign	1 lab	964ee34f1e
17:68172115 KCNJ2 G>A	17	68172115	68172115	G	A	KCNJ2	c.935G>A	NM_000891.3	NP_000882.1:p.(Arg312His)	NC_000017.10:g.68172115G>A	(Likely) pathogenic	1 lab	d3d8e6fb13
2:145157178 ZEB2 TA>T	2	145157178	145157180	TA	T	ZEB2	c.1575del	NM_014795.4	NP_055610.1:p.(Ile526LeufsTer18)	NC_000002.11:g.145157180del	(Likely) pathogenic	1 lab	d3dd28f5cb
16:3294269 MEFV T>G	16	3294269	3294269	T	G	MEFV	c.1744A>C	NM_000243.2	NP_000234.1:p.(Met582Leu)	NC_000016.9:g.3294269T>G	VUS	1 lab	96539ee1fc
5:95743908 PCSK1 G>C	5	95743908	95743908	G	C	PCSK1	c.1196+19C>G	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95743908G>C	(Likely) benign	1 lab	9653be3b57
6:32942523 BRD2 C>T	6	32942523	32942523	C	T	BRD2	c.314C>T	NM_001199455.1	NP_001186384.1:p.(Ala105Val)	NC_000006.11:g.32942523C>T	(Likely) benign	1 lab	9657966e22
12:6443319 TNFRSF1A C>T	12	6443319	6443319	C	T	TNFRSF1A	c.131G>A	NM_001065.3	NP_001056.1:p.(Cys44Tyr)	NC_000012.11:g.6443319C>T	(Likely) pathogenic	1 lab	9662c4b876
1:161600189 FCGR3B A>C	1	161600189	161600189	A	C	FCGR3B	c.41-11T>G	NM_001244753.2	NP_001231682.2:p.?	NC_000001.10:g.161600189A>C	(Likely) benign	1 lab	96652d81aa
15:48752435 FBN1 T>A	15	48752435	48752435	T	A	FBN1	c.5296+8A>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48752435T>A	(Likely) benign	1 lab	9666ede372
7:74193631 NCF1 C>T	7	74193631	74193631	C	T	NCF1	c.258C>T	NM_000265.6	NP_000256.4:p.(Ala86=)	NC_000007.13:g.74193631C>T	(Likely) benign	1 lab	966bd14dcf
8:100123309 VPS13B T>C	8	100123309	100123309	T	C	VPS13B	c.581-17T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100123309T>C	(Likely) benign	1 lab	9677791e93
2:31596731 XDH G>A	2	31596731	31596731	G	A	XDH	c.1686+8C>T	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31596731G>A	(Likely) benign	1 lab	96779018f1
1:237052656 MTR C>A	1	237052656	237052656	C	A	MTR	c.3007+20C>A	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.237052656C>A	(Likely) benign	1 lab	9679081eb7
8:27328409 CHRNA2 G>A	8	27328409	27328409	G	A	CHRNA2	c.73+94C>T	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27328409G>A	(Likely) benign	1 lab	967a8eed26
11:111784387 CRYAB G>A	11	111784387	111784387	G	A	CRYAB	c.-198-1741C>T	NM_001368245.1	NP_001355174.1:p.?	NC_000011.9:g.111784387G>A	(Likely) benign	1 lab	d3e3c1f4f3
11:9853756 SBF2 T>C	11	9853756	9853756	T	C	SBF2	c.3652+15A>G	NM_030962.3	NP_112224.1:p.?	NC_000011.9:g.9853756T>C	(Likely) benign	1 lab	9681b6b7af
11:110150484 RDX GT>G	11	110150484	110150486	GT	G	RDX	c.-64-4del	NM_002906.4	NP_002897.1:p.?	NC_000011.9:g.110150486del	(Likely) benign	1 lab	9682b1a3c0
17:41243449 BRCA1 T>C	17	41243449	41243449	T	C	BRCA1	c.4096+3A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243449T>C	VUS	1 lab	d3e4547f5a
5:127670810 FBN2 G>C	5	127670810	127670810	G	C	FBN2	c.3973+52C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127670810G>C	(Likely) benign	1 lab	96841fcdfe
10:69934109 MYPN A>C	10	69934109	69934109	A	C	MYPN	c.2260A>C	NM_032578.3	NP_115967.2:p.(Ile754Leu)	NC_000010.10:g.69934109A>C	(Likely) benign	1 lab	96850d5513
2:152553719 NEB G>A	2	152553719	152553719	G	A	NEB	c.1413C>T	NM_001271208.1	NP_001258137.1:p.(Phe471=)	NC_000002.11:g.152553719G>A	(Likely) benign	1 lab	96854ae1a1
5:89975513 ADGRV1 A>G	5	89975513	89975513	A	G	ADGRV1	c.5524+67A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975513A>G	(Likely) benign	1 lab	9685bcc2b7
2:168104183 XIRP2 C>G	2	168104183	168104183	C	G	XIRP2	c.6281C>G	NM_152381.6	NP_689594.4:p.(Thr2094Arg)	NC_000002.11:g.168104183C>G	(Likely) benign	1 lab	968a1d8311
2:191923418 STAT4 C>T	2	191923418	191923418	C	T	STAT4	c.1094+18G>A	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191923418C>T	(Likely) benign	1 lab	968ccbcc95
X:152959900 SLC6A8 CG>C	X	152959900	152959902	CG	C	SLC6A8	c.1495+1del	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152959902del	(Likely) pathogenic	1 lab	96935a1825
18:21529889 LAMA3 G>A	18	21529889	21529889	G	A	LAMA3	c.9511+1G>A	NM_198129.4	NP_937762.2:p.?	NC_000018.9:g.21529889G>A	(Likely) pathogenic	1 lab	d3e48a476d
15:53997338 WDR72 T>G	15	53997338	53997338	T	G	WDR72	c.1195A>C	NM_182758.4	NP_877435.3:p.(Lys399Gln)	NC_000015.9:g.53997338T>G	(Likely) benign	1 lab	969575a95c
15:57925873 MYZAP G>C	15	57925873	57925873	G	C	MYZAP	c.867G>C	NM_001018100.5	NP_001018110.1:p.(Glu289Asp)	NC_000015.9:g.57925873G>C	(Likely) benign	1 lab	969a7cc8f5
7:78130959 MAGI2 T>C	7	78130959	78130959	T	C	MAGI2	c.900A>G	NM_012301.4	NP_036433.2:p.(Glu300=)	NC_000007.13:g.78130959T>C	(Likely) benign	1 lab	969c50723d
4:86921800 ARHGAP24 GT>G	4	86921800	86921807	GT	G	ARHGAP24	c.2179del	NM_001025616.3	NP_001020787.2:p.(Ser727ProfsTer6)	NC_000004.11:g.86921807del	VUS	1 lab	969ce77d5e
16:88851292 PIEZO1 G>A	16	88851292	88851292	G	A	PIEZO1	c.64+17C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88851292G>A	(Likely) benign	1 lab	96a6392749
6:8016007 BLOC1S5 T>C	6	8016007	8016007	T	C	BLOC1S5	c.247A>G	NM_001199322.1	NP_001186251.1:p.(Asn83Asp)	NC_000006.11:g.8016007T>C	(Likely) benign	1 lab	96afd43c7f
2:179650861 TTN A>G	2	179650861	179650861	A	G	TTN	c.2084T>C	NM_001267550.1	NP_001254479.1:p.(Val695Ala)	NC_000002.11:g.179650861A>G	VUS	1 lab	96afe9e534
19:48643361 LIG1 G>A	19	48643361	48643361	G	A	LIG1	c.954C>T	NM_000234.1	NP_000225.1:p.(Ser318=)	NC_000019.9:g.48643361G>A	(Likely) benign	1 lab	96b0cc52fb
11:66478383 SPTBN2 A>G	11	66478383	66478383	A	G	SPTBN2	c.885+5T>C	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66478383A>G	(Likely) benign	1 lab	96b1db674e
2:47202157 TTC7A G>T	2	47202157	47202157	G	T	TTC7A	c.563G>T	NM_020458.4	NP_065191.2:p.(Arg188Leu)	NC_000002.11:g.47202157G>T	(Likely) benign	1 lab	96b3d76ee9
1:204131263 REN G>A	1	204131263	204131263	G	A	REN	c.127C>T	NM_000537.4	NP_000528.1:p.(Arg43Ter)	NC_000001.10:g.204131263G>A	(Likely) pathogenic	1 lab	96b3e961be
16:3304779 MEFV G>T	16	3304779	3304779	G	T	MEFV	c.289C>A	NM_000243.2	NP_000234.1:p.(Gln97Lys)	NC_000016.9:g.3304779G>T	(Likely) benign	1 lab	96b3f2cd40
1:247588736 NLRP3 T>C	1	247588736	247588736	T	C	NLRP3	c.1985T>C	NM_001243133.2	NP_001230062.1:p.(Met662Thr)	NC_000001.10:g.247588736T>C	(Likely) pathogenic	1 lab	96b47085ee
16:31195739 FUS C>T	16	31195739	31195739	C	T	FUS	c.523+22C>T	NM_004960.3	NP_004951.1:p.?	NC_000016.9:g.31195739C>T	(Likely) benign	1 lab	9725927ee6
19:13476334 CACNA1A A>C	19	13476334	13476334	A	C	CACNA1A	c.632-51T>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13476334A>C	(Likely) benign	1 lab	96b8449206
4:187509786 FAT1 G>A	4	187509786	187509786	G	A	FAT1	c.13727C>T	NM_005245.4	NP_005236.2:p.(Thr4576Met)	NC_000004.11:g.187509786G>A	(Likely) benign	1 lab	96c85bf9a7
10:78772373 KCNMA1 C>G	10	78772373	78772373	C	G	KCNMA1	c.2028-572G>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78772373C>G	(Likely) benign	1 lab	96c8db6c6a
8:48790213 PRKDC G>A	8	48790213	48790213	G	A	PRKDC	c.5363+72C>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48790213G>A	(Likely) benign	1 lab	96d009363b
14:65259901 SPTB C>T	14	65259901	65259901	C	T	SPTB	c.2480G>A	NM_001024858.3	NP_001020029.1:p.(Arg827Gln)	NC_000014.8:g.65259901C>T	VUS	1 lab	96d3454609
16:1250370 CACNA1H C>T	16	1250370	1250370	C	T	CACNA1H	c.918C>T	NM_021098.3	NP_066921.2:p.(Pro306=)	NC_000016.9:g.1250370C>T	(Likely) benign	1 lab	96d699e33f
5:89925334 ADGRV1 A>C	5	89925334	89925334	A	C	ADGRV1	c.1817A>C	NM_032119.4	NP_115495.3:p.(Asn606Thr)	NC_000005.9:g.89925334A>C	(Likely) benign	1 lab	96da6984dc
1:11189856 MTOR C>T	1	11189856	11189856	C	T	MTOR	c.5653G>A	NM_004958.3	NP_004949.1:p.(Val1885Ile)	NC_000001.10:g.11189856C>T	(Likely) benign	1 lab	96dc28a675
3:37092044 MLH1 T>A	3	37092044	37092044	T	A	MLH1	c.2171T>A	NM_000249.3	NP_000240.1:p.(Leu724Ter)	NC_000003.11:g.37092044T>A	(Likely) pathogenic	1 lab	96ddfc8137
18:55711905 NEDD4L C>T	18	55711905	55711905	C	T	NEDD4L	c.13C>T	NM_015277.6	NP_056092.2:p.(Leu5Phe)	NC_000018.9:g.55711905C>T	(Likely) benign	1 lab	96e24e8f6a
11:17793707 KCNC1 G>A	11	17793707	17793707	G	A	KCNC1	c.1066G>A	NM_004976.4	NP_004967.1:p.(Val356Met)	NC_000011.9:g.17793707G>A	VUS	1 lab	d3ebdd1955
14:65239877 SPTB C>T	14	65239877	65239877	C	T	SPTB	c.5178+61G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65239877C>T	(Likely) benign	1 lab	96eee9af59
12:110028949 MVK G>A	12	110028949	110028949	G	A	MVK	c.769-97G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110028949G>A	(Likely) benign	1 lab	96f7e2f5c3
4:4861923 MSX1 G>A	4	4861923	4861923	G	A	MSX1	c.297G>A	NM_002448.3	NP_002439.2:p.(Pro99=)	NC_000004.11:g.4861923G>A	VUS	1 lab	96fb37267c
16:2140323 PKD1 C>A	16	2140323	2140323	C	A	PKD1	c.12407G>T	NM_001009944.2	NP_001009944.2:p.(Arg4136Met)	NC_000016.9:g.2140323C>A	(Likely) pathogenic	1 lab	96fb900b3c
7:128478493 FLNC G>T	7	128478493	128478493	G	T	FLNC	c.1210+10G>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128478493G>T	(Likely) benign	1 lab	97125acbc4
13:32921057 BRCA2 A>G	13	32921057	32921057	A	G	BRCA2	c.7007+24A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32921057A>G	(Likely) benign	1 lab	9713093ee3
17:79827128 ARHGDIA C>T	17	79827128	79827128	C	T	ARHGDIA	c.352-16G>A	NM_001185077.3	NP_001172006.1:p.?	NC_000017.10:g.79827128C>T	(Likely) benign	1 lab	971c8d685d
3:119112368 ARHGAP31 T>C	3	119112368	119112368	T	C	ARHGAP31	c.936T>C	NM_020754.4	NP_065805.2:p.(Arg312=)	NC_000003.11:g.119112368T>C	(Likely) benign	1 lab	971d691773
22:19751843 TBX1 C>T	22	19751843	19751843	C	T	TBX1	c.678C>T	NM_080647.1	NP_542378.1:p.(Asn226=)	NC_000022.10:g.19751843C>T	(Likely) benign	1 lab	971f8b69f5
6:161160157 PLG C>T	6	161160157	161160157	C	T	PLG	c.1935C>T	NM_000301.3	NP_000292.1:p.(Leu645=)	NC_000006.11:g.161160157C>T	(Likely) benign	1 lab	97205f6ce1
9:138656879 KCNT1 C>T	9	138656879	138656879	C	T	KCNT1	c.1038C>T	NM_020822.2	NP_065873.2:p.(Phe346=)	NC_000009.11:g.138656879C>T	(Likely) benign	1 lab	97246127db
12:44166890 IRAK4 C>T	12	44166890	44166890	C	T	IRAK4	c.651+15C>T	NM_016123.3	NP_057207.2:p.?	NC_000012.11:g.44166890C>T	(Likely) benign	1 lab	9725096fea
13:37393904 RFXAP T>C	13	37393904	37393904	T	C	RFXAP	c.410T>C	NM_000538.3	NP_000529.1:p.(Met137Thr)	NC_000013.10:g.37393904T>C	(Likely) benign	1 lab	9725afd31b
5:161521105 GABRG2 G>A	5	161521105	161521105	G	A	GABRG2				NC_000005.9:g.161521105G>A	(Likely) benign	1 lab	972e7ffe6b
19:14885090 ADGRE2 T>C	19	14885090	14885090	T	C	ADGRE2	c.60A>G	NM_013447.4	NP_038475.2:p.(Gly20=)	NC_000019.9:g.14885090T>C	(Likely) benign	1 lab	97318617cb
6:161137720 PLG G>A	6	161137720	161137720	G	A	PLG	c.712G>A	NM_000301.5	NP_000292.1:p.(Asp238Asn)	NC_000006.11:g.161137720G>A	VUS	1 lab	d3eebb6595
7:103201982 RELN T>C	7	103201982	103201982	T	C	RELN	c.5526A>G	NM_005045.4	NP_005036.2:p.(Lys1842=)	NC_000007.13:g.103201982T>C	(Likely) benign	1 lab	9734f2fb95
7:106509008 PIK3CG C>T	7	106509008	106509008	C	T	PIK3CG	c.1002C>T	NM_002649.3	NP_002640.2:p.(Gly334=)	NC_000007.13:g.106509008C>T	(Likely) benign	1 lab	97361f76c9
14:91779547 CCDC88C C>T	14	91779547	91779547	C	T	CCDC88C	c.2613G>A	NM_001080414.4	NP_001073883.2:p.(Ala871=)	NC_000014.8:g.91779547C>T	(Likely) benign	1 lab	973646fdb4
16:49669907 ZNF423 C>T	16	49669907	49669907	C	T	ZNF423	c.3156G>A	NM_015069.4	NP_055884.2:p.(Ala1052=)	NC_000016.9:g.49669907C>T	(Likely) benign	1 lab	973709c4b2
1:39750786 MACF1 C>T	1	39750786	39750786	C	T	MACF1	c.1178C>T	NM_012090.5	NP_036222.3:p.(Pro393Leu)	NC_000001.10:g.39750786C>T	VUS	1 lab	d3f3b7b648
3:132403468 NPHP3 C>T	3	132403468	132403468	C	T	NPHP3	c.3500G>A	NM_153240.5	NP_694972.3:p.(Arg1167His)	NC_000003.11:g.132403468C>T	(Likely) benign	1 lab	973e97a1d7
17:56801430 RAD51C C>T	17	56801430	56801430	C	T	RAD51C	c.934C>T	NM_058216.1	NP_478123.1:p.(Arg312Trp)	NC_000017.10:g.56801430C>T	(Likely) pathogenic	1 lab	974072bab0
8:68340286 CPA6 C>T	8	68340286	68340286	C	T	CPA6	c.1122G>A	NM_020361.5	NP_065094.3:p.(Thr374=)	NC_000008.10:g.68340286C>T	(Likely) benign	1 lab	9740b96180
9:108366515 FKTN C>T	9	108366515	108366515	C	T	FKTN	c.320C>T	NM_001351497.2	NP_001338426.1:p.(Ala107Val)	NC_000009.11:g.108366515C>T	VUS	1 lab	974293c408
14:67243035 GPHN T>C	14	67243035	67243035	T	C	GPHN	c.144-147T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67243035T>C	(Likely) benign	1 lab	97458b6c8f
6:32037369 TNXB C>T	6	32037369	32037369	C	T	TNXB	c.5548G>A	NM_019105.8	NP_061978.6:p.(Gly1850Ser)	NC_000006.11:g.32037369C>T	(Likely) benign	1 lab	97482f9b7c
7:128483880 FLNC G>A	7	128483880	128483880	G	A	FLNC	c.2842G>A	NM_001458.4	NP_001449.3:p.(Gly948Arg)	NC_000007.13:g.128483880G>A	VUS	1 lab	974b413b22
20:62065215 KCNQ2 G>A	20	62065215	62065215	G	A	KCNQ2	c.1065C>T	NM_172107.4	NP_742105.1:p.(Asp355=)	NC_000020.10:g.62065215G>A	(Likely) benign	1 lab	974eaca5e4
1:8420498 RERE T>C	1	8420498	8420498	T	C	RERE	c.3069A>G	NM_012102.4	NP_036234.3:p.(Thr1023=)	NC_000001.10:g.8420498T>C	(Likely) benign	1 lab	975140461b
12:32945611 PKP2 C>T	12	32945611	32945611	C	T	PKP2	c.2544G>A	NM_004572.3	NP_004563.2:p.(Trp848Ter)	NC_000012.11:g.32945611C>T	(Likely) pathogenic	1 lab	9752e3b990
12:109540752 UNG A>AT	12	109540752	109540774	A	AT	UNG	c.595+42dup	NM_003362.4	NP_003353.1:p.?	NC_000012.11:g.109540774dup	(Likely) benign	1 lab	975a3e99ae
3:186302391 DNAJB11 A>AGTGTGTGTGTGTGT	3	186302391	186302411	A	AGTGTGTGTGTGTGT	DNAJB11	c.1012+20_1012+33dup	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302398_186302411dup	(Likely) benign	1 lab	975f7ccda1
20:42788273 JPH2 T>C	20	42788273	42788273	T	C	JPH2	c.1154A>G	NM_020433.4	NP_065166.2:p.(Glu385Gly)	NC_000020.10:g.42788273T>C	VUS	1 lab	9762e7e164
4:187004517 TLR3 G>A	4	187004517	187004517	G	A	TLR3	c.1677G>A	NM_003265.2	NP_003256.1:p.(Lys559=)	NC_000004.11:g.187004517G>A	(Likely) benign	1 lab	9763eb3d18
X:107823951 COL4A5 G>A	X	107823951	107823951	G	A	COL4A5	c.874G>A	NM_000495.5	NP_000486.1:p.(Gly292Arg)	NC_000023.10:g.107823951G>A	(Likely) pathogenic	1 lab	97673de2a6
6:102503401 GRIK2 T>C	6	102503401	102503401	T	C	GRIK2	c.2508T>C	NM_001166247.1	NP_001159719.1:p.(Phe836=)	NC_000006.11:g.102503401T>C	(Likely) benign	1 lab	976a4477fa
12:53453163 TNS2 G>C	12	53453163	53453163	G	C	TNS2	c.1768G>C	NM_015319.2	NP_056134.2:p.(Val590Leu)	NC_000012.11:g.53453163G>C	(Likely) benign	1 lab	976b122b68
2:191848206 STAT1 A>G	2	191848206	191848206	A	G	STAT1	c.1446+162T>C	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191848206A>G	(Likely) benign	1 lab	976c735ee9
2:233322861 ALPI G>A	2	233322861	233322861	G	A	ALPI	c.991+19G>A	NM_001631.5	NP_001622.2:p.?	NC_000002.11:g.233322861G>A	(Likely) benign	1 lab	976fda9257
8:100847639 VPS13B G>GA	8	100847639	100847646	G	GA	VPS13B	c.9817+94dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100847646dup	(Likely) benign	1 lab	9775689d2f
X:53421680 SMC1A CCT>C	X	53421680	53421682	CCT	C	SMC1A	c.2973+16_2973+17del	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53421681_53421682del	(Likely) benign	1 lab	9780fe559c
22:40037045 CACNA1I C>T	22	40037045	40037045	C	T	CACNA1I	c.914C>T	NM_021096.4	NP_066919.2:p.(Ala305Val)	NC_000022.10:g.40037045C>T	(Likely) benign	1 lab	d3f83ee206
2:166775810 TTC21B T>C	2	166775810	166775810	T	C	TTC21B	c.1650A>G	NM_024753.5	NP_079029.3:p.(Glu550=)	NC_000002.11:g.166775810T>C	(Likely) benign	1 lab	9784aefb0e
20:10644601 JAG1 C>T	20	10644601	10644601	C	T	JAG1	c.439+10G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10644601C>T	(Likely) benign	1 lab	978c298db8
X:154185236 F8 T>C	X	154185236	154185236	T	C	F8	c.1748A>G	NM_000132.3	NP_000123.1:p.(Asn583Ser)	NC_000023.10:g.154185236T>C	(Likely) pathogenic	1 lab	978d6dd67b
5:89992596 ADGRV1 T>C	5	89992596	89992596	T	C	ADGRV1	c.7946-158T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89992596T>C	(Likely) benign	1 lab	979546f35d
2:204735661 CTLA4 G>A	2	204735661	204735661	G	A	CTLA4	c.457+5G>A	NM_005214.5	NP_005205.2:p.?	NC_000002.11:g.204735661G>A	(Likely) pathogenic	1 lab	97971b4910
19:36333195 NPHS1 G>A	19	36333195	36333195	G	A	NPHS1	c.2507-13C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36333195G>A	(Likely) benign	1 lab	979a2e77c9
10:112544122 RBM20 G>T	10	112544122	112544122	G	T	RBM20	c.1361G>T	NM_001134363.1	NP_001127835.1:p.(Gly454Val)	NC_000010.10:g.112544122G>T	VUS	1 lab	979c9804b2
4:129891583 SCLT1 C>T	4	129891583	129891583	C	T	SCLT1	c.727G>A	NM_144643.4	NP_653244.2:p.(Glu243Lys)	NC_000004.11:g.129891583C>T	(Likely) benign	1 lab	979e8acbf2
17:7127894 ACADVL C>T	17	7127894	7127894	C	T	ACADVL	c.1678+23C>T	NM_000018.4	NP_000009.1:p.?	NC_000017.10:g.7127894C>T	(Likely) benign	1 lab	97aa6396d6
7:111398794 DOCK4 C>T	7	111398794	111398794	C	T	DOCK4	c.4188G>A	NM_014705.4	NP_055520.3:p.(Gln1396=)	NC_000007.13:g.111398794C>T	(Likely) benign	1 lab	97ad6e73ef
11:77832108 ALG8 T>C	11	77832108	77832108	T	C	ALG8	c.478+3A>G	NM_024079.5	NP_076984.2:p.?	NC_000011.9:g.77832108T>C	VUS	1 lab	97af3cc042
8:100832137 VPS13B T>A	8	100832137	100832137	T	A	VPS13B	c.8868-12T>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100832137T>A	(Likely) benign	1 lab	97b3fa8217
14:23858809 MYH6 G>T	14	23858809	23858809	G	T	MYH6	c.3852C>A	NM_002471.3	NP_002462.2:p.(Thr1284=)	NC_000014.8:g.23858809G>T	(Likely) benign	1 lab	97b794aa05
16:2152584 PKD1 CG>C	16	2152584	2152586	CG	C	PKD1	c.8998del	NM_001009944.3	NP_001009944.3:p.(Arg3000AlafsTer74)	NC_000016.9:g.2152586del	(Likely) pathogenic	1 lab	97b8935f24
1:158636224 SPTA1 C>T	1	158636224	158636224	C	T	SPTA1	c.2102G>A	NM_003126.3	NP_003117.2:p.(Arg701His)	NC_000001.10:g.158636224C>T	(Likely) benign	1 lab	97ba8738c6
22:36682776 MYH9 G>T	22	36682776	36682776	G	T	MYH9	c.5049C>A	NM_002473.5	NP_002464.1:p.(Ile1683=)	NC_000022.10:g.36682776G>T	(Likely) benign	1 lab	97bc8cd2d9
15:42134416 JMJD7-PLA2G4B C>T	15	42134416	42134416	C	T	JMJD7-PLA2G4B	c.1340C>T	NM_005090.3	NP_005081.1:p.(Ala447Val)	NC_000015.9:g.42134416C>T	(Likely) benign	1 lab	97c01a7192
17:59820498 BRIP1 TAAAC>T	17	59820498	59820504	TAAAC	T	BRIP1	c.2258-7_2258-4del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59820501_59820504del	(Likely) benign	1 lab	d3fe327aa4
3:10128976 FANCD2 T>TTTTTTTTTA	3	10128976	10128985	T	TTTTTTTTTA	FANCD2	c.3466+29_3466+37dup	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10128977_10128985dup	(Likely) benign	1 lab	97cf6df2ff
17:73836419 UNC13D C>T	17	73836419	73836419	C	T	UNC13D	c.754-9G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836419C>T	(Likely) benign	1 lab	97cfa10792
16:8941651 PMM2 C>T	16	8941651	8941651	C	T	PMM2	c.710C>T	NM_000303.3	NP_000294.1:p.(Thr237Met)	NC_000016.9:g.8941651C>T	(Likely) pathogenic	1 lab	97e0f440f3
19:59012675 SLC27A5 C>T	19	59012675	59012675	C	T	SLC27A5	c.1160G>A	NM_012254.3	NP_036386.1:p.(Arg387Gln)	NC_000019.9:g.59012675C>T	(Likely) benign	1 lab	97e13b7552
12:110019271 MVK C>T	12	110019271	110019271	C	T	MVK	c.443C>T	NM_000431.2	NP_000422.1:p.(Ala148Val)	NC_000012.11:g.110019271C>T	(Likely) pathogenic	1 lab	97e14bc91c
3:4669461 ITPR1 C>G	3	4669461	4669461	C	G	ITPR1	c.178C>G	NM_002222.7	NP_002213.5:p.(Leu60Val)	NC_000003.11:g.4669461C>G	VUS	1 lab	d401c208ab
5:11111117 CTNND2 C>T	5	11111117	11111117	C	T	CTNND2	c.2316G>A	NM_001332.4	NP_001323.1:p.(Ser772=)	NC_000005.9:g.11111117C>T	(Likely) benign	1 lab	97ec130315
1:26138451 SELENON A>G	1	26138451	26138451	A	G	SELENON	c.1281+81A>G	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26138451A>G	(Likely) benign	1 lab	97ef6ab486
10:90697953 ACTA2 C>G	10	90697953	90697953	C	G	ACTA2	c.855G>C	NM_001613.2	NP_001604.1:p.(Met285Ile)	NC_000010.10:g.90697953C>G	VUS	1 lab	97f183e102
2:166183665 SCN2A AT>A	2	166183665	166183677	AT	A	SCN2A	c.2149+183del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166183677del	(Likely) benign	1 lab	97fd7b623c
16:3293206 MEFV G>A	16	3293206	3293206	G	A	MEFV	c.2281C>T	NM_000243.2	NP_000234.1:p.(Arg761Cys)	NC_000016.9:g.3293206G>A	(Likely) pathogenic	1 lab	97fdfd1d88
16:2161678 PKD1 C>T	16	2161678	2161678	C	T	PKD1	c.3490G>A	NM_001009944.2	NP_001009944.2:p.(Gly1164Arg)	NC_000016.9:g.2161678C>T	(Likely) pathogenic	1 lab	97fe6d9321
1:1961466 GABRD C>T	1	1961466	1961466	C	T	GABRD	c.1104C>T	NM_000815.5	NP_000806.2:p.(Ala368=)	NC_000001.10:g.1961466C>T	(Likely) benign	1 lab	97fe8d0b39
14:23857352 MYH6 C>A	14	23857352	23857352	C	A	MYH6	c.4359+12G>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23857352C>A	(Likely) benign	1 lab	98038d2190
1:236924383 ACTN2 A>T	1	236924383	236924383	A	T	ACTN2	c.2436A>T	NM_001103.3	NP_001094.1:p.(Gln812His)	NC_000001.10:g.236924383A>T	VUS	1 lab	9810206ff2
17:46020821 PNPO T>G	17	46020821	46020821	T	G	PNPO	c.263+25T>G	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46020821T>G	(Likely) benign	1 lab	98182a41a7
X:100653420 RPL36A-HNRNPH2 C>A	X	100653420	100653420	C	A	RPL36A-HNRNPH2	c.300+2975C>A	NM_001199973.2	NP_001186902.2:p.?	NC_000023.10:g.100653420C>A	(Likely) benign	1 lab	981cf6a854
16:67692468 ACD G>A	16	67692468	67692468	G	A	ACD	c.819C>T	NM_001082486.2	NP_001075955.2:p.(Pro273=)	NC_000016.9:g.67692468G>A	(Likely) benign	1 lab	981d9ce413
X:107084257 MID2 G>T	X	107084257	107084257	G	T	MID2	c.362G>T	NM_012216.4	NP_036348.2:p.(Arg121Leu)	NC_000023.10:g.107084257G>T	VUS	1 lab	d4090a68a6
16:3294344 MEFV A>G	16	3294344	3294344	A	G	MEFV	c.1727-58T>C	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3294344A>G	(Likely) benign	1 lab	98212991b4
1:3319571 PRDM16 C>A	1	3319571	3319571	C	A	PRDM16	c.884+9C>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319571C>A	(Likely) benign	1 lab	9822e8c029
13:39422508 FREM2 G>A	13	39422508	39422508	G	A	FREM2	c.6170-90G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39422508G>A	(Likely) benign	1 lab	982524d946
2:219745406 WNT10A C>T	2	219745406	219745406	C	T	WNT10A				NC_000002.11:g.219745406C>T	(Likely) benign	1 lab	98253f7e2b
13:39263422 FREM2 C>T	13	39263422	39263422	C	T	FREM2	c.1941C>T	NM_207361.6	NP_997244.4:p.(Asp647=)	NC_000013.10:g.39263422C>T	(Likely) benign	1 lab	9829793b33
1:22202875 HSPG2 A>G	1	22202875	22202875	A	G	HSPG2	c.2850T>C	NM_005529.6	NP_005520.4:p.(Pro950=)	NC_000001.10:g.22202875A>G	(Likely) benign	1 lab	982f358514
2:189922034 COL5A2 AAAAG>A	2	189922034	189922038	AAAAG	A	COL5A2	c.2337+8_2337+11del	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189922035_189922038del	(Likely) benign	1 lab	982f986cc7
10:15649710 ITGA8 G>A	10	15649710	15649710	G	A	ITGA8	c.1730C>T	NM_003638.3	NP_003629.2:p.(Ser577Phe)	NC_000010.10:g.15649710G>A	(Likely) benign	1 lab	9852726ca7
20:44049916 PIGT T>TC	20	44049916	44049920	T	TC	PIGT	c.1034-103dup	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44049920dup	(Likely) benign	1 lab	9836fee959
12:30805236 IPO8 C>A	12	30805236	30805236	C	A	IPO8	c.2075-13G>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30805236C>A	(Likely) benign	1 lab	983ced4fdc
2:166894639 SCN1A G>A	2	166894639	166894639	G	A	SCN1A	c.2593C>T	NM_001165963.3	NP_001159435.1:p.(Arg865Ter)	NC_000002.11:g.166894639G>A	(Likely) pathogenic	1 lab	984201d247
6:52329845 EFHC1 G>A	6	52329845	52329845	G	A	EFHC1	c.1069G>A	NM_018100.4	NP_060570.2:p.(Glu357Lys)	NC_000006.11:g.52329845G>A	(Likely) benign	1 lab	9842ec1779
10:18439784 CACNB2 C>CT	10	18439784	18439809	C	CT	CACNB2	c.37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809dup	(Likely) benign	1 lab	984336e494
1:6267478 RNF207 G>A	1	6267478	6267478	G	A	RNF207	c.231G>A	NM_207396.3	NP_997279.2:p.(Pro77=)	NC_000001.10:g.6267478G>A	(Likely) benign	1 lab	984663411e
X:1407733 CSF2RA C>T	X	1407733	1407733	C	T	CSF2RA	c.425C>T	NM_006140.5	NP_006131.2:p.(Pro142Leu)	NC_000023.10:g.1407733C>T	(Likely) benign	1 lab	98481e5395
5:89953660 ADGRV1 C>G	5	89953660	89953660	C	G	ADGRV1	c.4379-62C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89953660C>G	(Likely) benign	1 lab	984d055cad
10:6066461 IL2RA C>T	10	6066461	6066461	C	T	IL2RA	c.257-144G>A	NM_000417.2	NP_000408.1:p.?	NC_000010.10:g.6066461C>T	(Likely) benign	1 lab	9d04403797
1:27106282 ARID1A A>AC	1	27106282	27106286	A	AC	ARID1A	c.5897dup	NM_006015.6	NP_006006.3:p.(Leu1967ThrfsTer32)	NC_000001.10:g.27106286dup	(Likely) pathogenic	1 lab	d40a836026
X:100608319 BTK A>G	X	100608319	100608319	A	G	BTK	c.1771T>C	NM_000061.2	NP_000052.1:p.(Tyr591His)	NC_000023.10:g.100608319A>G	(Likely) pathogenic	1 lab	985a529747
2:98350021 ZAP70 C>T	2	98350021	98350021	C	T	ZAP70	c.852C>T	NM_001079.3	NP_001070.2:p.(Ile284=)	NC_000002.11:g.98350021C>T	(Likely) benign	1 lab	986321404b
16:89849418 FANCA G>A	16	89849418	89849418	G	A	FANCA	c.1563C>T	NM_000135.2	NP_000126.2:p.(Leu521=)	NC_000016.9:g.89849418G>A	(Likely) benign	1 lab	9869374cef
4:151850089 LRBA T>G	4	151850089	151850089	T	G	LRBA	c.345A>C	NM_006726.4	NP_006717.2:p.(Thr115=)	NC_000004.11:g.151850089T>G	(Likely) benign	1 lab	986d571040
15:85370783 ALPK3 A>G	15	85370783	85370783	A	G	ALPK3	c.251A>G	NM_020778.5	NP_065829.4:p.(Lys84Arg)	NC_000015.9:g.85370783A>G	VUS	1 lab	d40c56203c
18:48447462 ME2 A>C	18	48447462	48447462	A	C	ME2	c.961A>C	NM_002396.5	NP_002387.1:p.(Asn321His)	NC_000018.9:g.48447462A>C	(Likely) benign	1 lab	987561612c
4:77102168 SCARB2 C>T	4	77102168	77102168	C	T	SCARB2	c.362G>A	NM_005506.4	NP_005497.1:p.(Arg121Gln)	NC_000004.11:g.77102168C>T	(Likely) benign	1 lab	98784bc4e2
19:39205294 ACTN4 G>A	19	39205294	39205294	G	A	ACTN4	c.912+93G>A	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39205294G>A	(Likely) benign	1 lab	987c0ef578
6:47548605 CD2AP A>G	6	47548605	47548605	A	G	CD2AP	c.1014A>G	NM_012120.3	NP_036252.1:p.(Pro338=)	NC_000006.11:g.47548605A>G	(Likely) benign	1 lab	987cc05726
1:206566456 MISSING A>T	1	206566456	206566456	A	T	MISSING				NC_000001.10:g.206566456A>T	(Likely) benign	1 lab	987de7a39c
9:422052 DOCK8 C>T	9	422052	422052	C	T	DOCK8	c.4158C>T	NM_203447.3	NP_982272.2:p.(Asn1386=)	NC_000009.11:g.422052C>T	(Likely) benign	1 lab	9882ea0ce3
20:62062571 KCNQ2 G>A	20	62062571	62062571	G	A	KCNQ2	c.1148+122C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62062571G>A	(Likely) benign	1 lab	9883444bf8
21:41414496 DSCAM C>T	21	41414496	41414496	C	T	DSCAM	c.5488G>A	NM_001389.5	NP_001380.2:p.(Ala1830Thr)	NC_000021.8:g.41414496C>T	VUS	1 lab	9886ad0a4d
3:196198726 RNF168 T>C	3	196198726	196198726	T	C	RNF168	c.1680A>G	NM_152617.3	NP_689830.2:p.(Lys560=)	NC_000003.11:g.196198726T>C	(Likely) benign	1 lab	988936e065
18:32407564 DTNA A>G	18	32407564	32407564	A	G	DTNA	c.1009A>G	NM_001198939.2	NP_001185868.1:p.(Arg337Gly)	NC_000018.9:g.32407564A>G	VUS	1 lab	d40e147a45
19:50832178 KCNC3 G>A	19	50832178	50832178	G	A	KCNC3	c.162C>T	NM_004977.3	NP_004968.2:p.(Gly54=)	NC_000019.9:g.50832178G>A	(Likely) benign	1 lab	988d6ba0ea
1:1957197 GABRD G>A	1	1957197	1957197	G	A	GABRD	c.470+20G>A	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1957197G>A	(Likely) benign	1 lab	988e8d3fdc
1:5935158 NPHP4 C>T	1	5935158	5935158	C	T	NPHP4	c.2820G>A	NM_015102.5	NP_055917.1:p.(Ala940=)	NC_000001.10:g.5935158C>T	(Likely) benign	1 lab	98965d890c
12:113346588 OAS1 A>G	12	113346588	113346588	A	G	OAS1	c.428A>G	NM_001320151.2	NP_001307080.1:p.(Glu143Gly)	NC_000012.11:g.113346588A>G	(Likely) benign	1 lab	98973e9067
16:3293120 MEFV G>C	16	3293120	3293120	G	C	MEFV	c.*21C>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293120G>C	(Likely) benign	1 lab	989a1f813f
7:91864962 KRIT1 T>C	7	91864962	91864962	T	C	KRIT1	c.486-2A>G	NM_194456.1	NP_919438.1:p.?	NC_000007.13:g.91864962T>C	(Likely) pathogenic	1 lab	989c4ae58e
1:228559450 OBSCN G>A	1	228559450	228559450	G	A	OBSCN	c.23842G>A	NM_001271223.2	NP_001258152.2:p.(Gly7948Arg)	NC_000001.10:g.228559450G>A	(Likely) benign	1 lab	989c901831
2:166895930 SCN1A T>G	2	166895930	166895930	T	G	SCN1A	c.2589+3A>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166895930T>G	(Likely) pathogenic	1 lab	98a16a044f
9:139258798 CARD9 C>G	9	139258798	139258798	C	G	CARD9	c.1567G>C	NM_052813.4	NP_434700.2:p.(Glu523Gln)	NC_000009.11:g.139258798C>G	(Likely) benign	1 lab	98a5016b53
4:187525731 FAT1 G>A	4	187525731	187525731	G	A	FAT1	c.10351-3C>T	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187525731G>A	(Likely) benign	1 lab	98a5f1eb69
22:51065173 ARSA G>A	22	51065173	51065173	G	A	ARSA	c.700C>T	NM_000487.6	NP_000478.3:p.(Gln234Ter)	NC_000022.10:g.51065173G>A	(Likely) pathogenic	1 lab	98a636aea4
9:111929287 FRRS1L T>G	9	111929287	111929287	T	G	FRRS1L	c.285A>C	NM_014334.3	NP_055149.2:p.(Gly95=)	NC_000009.11:g.111929287T>G	VUS	1 lab	98a77a6f0c
1:247587425 NLRP3 C>T	1	247587425	247587425	C	T	NLRP3	c.674C>T	NM_001243133.2	NP_001230062.1:p.(Ala225Val)	NC_000001.10:g.247587425C>T	VUS	1 lab	98a88ce6b3
X:37642818 CYBB C>T	X	37642818	37642818	C	T	CYBB	c.217C>T	NM_000397.3	NP_000388.2:p.(Arg73Ter)	NC_000023.10:g.37642818C>T	(Likely) pathogenic	1 lab	98ab10c189
7:94042005 COL1A2 C>T	7	94042005	94042005	C	T	COL1A2	c.1503+11C>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94042005C>T	(Likely) benign	1 lab	98b1da8323
3:64085620 PRICKLE2 G>A	3	64085620	64085620	G	A	PRICKLE2	c.1661-19C>T	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64085620G>A	(Likely) benign	1 lab	98b339a558
5:70247773 SMN1 C>T	5	70247773	70247773	C	T	SMN1	c.840C>T	NM_000344.3	NP_000335.1:p.(Phe280=)	NC_000005.9:g.70247773C>T	(Likely) benign	1 lab	98b531b78b
11:108205726 ATM G>T	11	108205726	108205726	G	T	ATM	c.8041G>T	NM_000051.3	NP_000042.3:p.(Val2681Leu)	NC_000011.9:g.108205726G>T	VUS	1 lab	98b6377ef4
5:176815091 SLC34A1 C>A	5	176815091	176815091	C	A	SLC34A1	c.741C>A	NM_003052.5	NP_003043.3:p.(Ile247=)	NC_000005.9:g.176815091C>A	(Likely) benign	1 lab	98ba72d29f
16:53726025 RPGRIP1L C>T	16	53726025	53726025	C	T	RPGRIP1L	c.482G>A	NM_015272.5	NP_056087.2:p.(Arg161His)	NC_000016.9:g.53726025C>T	(Likely) benign	1 lab	98c677f2e6
1:26134926 SELENON C>G	1	26134926	26134926	C	G	SELENON	c.538-145C>G	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26134926C>G	(Likely) benign	1 lab	98cceff1e8
X:49856768 CLCN5 A>G	X	49856768	49856768	A	G	CLCN5	c.2361-18A>G	NM_001127899.4	NP_001121371.1:p.?	NC_000023.10:g.49856768A>G	(Likely) benign	1 lab	98ce89a8f0
19:14876163 ADGRE2 T>G	19	14876163	14876163	T	G	ADGRE2	c.875A>C	NM_013447.4	NP_038475.2:p.(Tyr292Ser)	NC_000019.9:g.14876163T>G	(Likely) benign	1 lab	98d03d2631
2:179463487 TTN T>C	2	179463487	179463487	T	C	TTN	c.30130A>G	NM_133432.3	NP_597676.3:p.(Arg10044Gly)	NC_000002.11:g.179463487T>C	VUS	1 lab	98d0db7135
16:2166833 PKD1 C>T	16	2166833	2166833	C	T	PKD1	c.1606+1G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2166833C>T	(Likely) pathogenic	1 lab	98d196d90b
18:21152232 NPC1 T>C	18	21152232	21152232	T	C	NPC1	c.181-88A>G	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21152232T>C	(Likely) benign	1 lab	98d234e832
4:79394957 FRAS1 T>TTA	4	79394957	79394958	T	TTA	FRAS1	c.7682+206_7682+207insTA	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79394957_79394958insTA	(Likely) benign	1 lab	98d3a3265a
2:227979385 COL4A4 C>CT	2	227979385	227979390	C	CT	COL4A4	c.516dup	NM_000092.4	NP_000083.3:p.(Gly173ArgfsTer11)	NC_000002.11:g.227979390dup	(Likely) pathogenic	1 lab	98d71244ad
2:217341947 SMARCAL1 G>A	2	217341947	217341947	G	A	SMARCAL1	c.2528+15G>A	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217341947G>A	(Likely) benign	1 lab	98d7e29008
3:49162268 LAMB2 A>G	3	49162268	49162268	A	G	LAMB2	c.2975T>C	NM_002292.4	NP_002283.3:p.(Ile992Thr)	NC_000003.11:g.49162268A>G	(Likely) benign	1 lab	98de5379c9
15:71507435 THSD4 G>A	15	71507435	71507435	G	A	THSD4	c.161G>A	NM_024817.2	NP_079093.2:p.(Gly54Glu)	NC_000015.9:g.71507435G>A	VUS	1 lab	98e02a4a89
16:2161244 PKD1 CTGCGTGGGGA>C	16	2161244	2161257	CTGCGTGGGGA	C	PKD1	c.3914_3923del	NM_001009944.3	NP_001009944.3:p.(Ile1305SerfsTer38)	NC_000016.9:g.2161248_2161257del	(Likely) pathogenic	1 lab	98e2d3da77
6:39869766 DAAM2 G>A	6	39869766	39869766	G	A	DAAM2	c.3160G>A	NM_001201427.2	NP_001188356.1:p.(Ala1054Thr)	NC_000006.11:g.39869766G>A	(Likely) benign	1 lab	98ebb5bc56
X:48934071 WDR45 G>A	X	48934071	48934071	G	A	WDR45	c.439+18C>T	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48934071G>A	(Likely) benign	1 lab	98edf59521
17:4166991 ANKFY1 C>A	17	4166991	4166991	C	A	ANKFY1	c.35G>T	NM_001257999.2	NP_001244928.1:p.(Ser12Ile)	NC_000017.10:g.4166991C>A	(Likely) benign	1 lab	98edf8d4ee
X:30326632 NR0B1 C>CTTTTTT	X	30326632	30326634	C	CTTTTTT	NR0B1	c.848_849insAAAAAA	NM_000475.5	NP_000466.2:p.(Gln283_Leu284insLysLys)	NC_000023.10:g.30326633_30326634insTTTTTT	(Likely) pathogenic	1 lab	98ee32c060
5:1294116 TERT G>A	5	1294116	1294116	G	A	TERT	c.885C>T	NM_198253.2	NP_937983.2:p.(Ser295=)	NC_000005.9:g.1294116G>A	(Likely) benign	1 lab	98ef0ba6d9
19:17943525 JAK3 A>G	19	17943525	17943525	A	G	JAK3	c.2491-8T>C	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17943525A>G	(Likely) benign	1 lab	98ef552dc2
1:24018333 RPL11 A>G	1	24018333	24018333	A	G	RPL11	c.6+14A>G	NM_000975.5	NP_000966.2:p.?	NC_000001.10:g.24018333A>G	(Likely) benign	1 lab	98ef87b137
2:152419189 NEB C>A	2	152419189	152419189	C	A	NEB	c.18827G>T	NM_001271208.1	NP_001258137.1:p.(Trp6276Leu)	NC_000002.11:g.152419189C>A	(Likely) pathogenic	1 lab	98f09f67a8
5:90024802 ADGRV1 C>G	5	90024802	90024802	C	G	ADGRV1	c.10426+52C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90024802C>G	(Likely) benign	1 lab	98f2fe8ca1
15:80452075 FAH T>C	15	80452075	80452075	T	C	FAH	c.193-23T>C	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452075T>C	(Likely) benign	1 lab	98f312c5ce
12:14839149 GUCY2C C>T	12	14839149	14839149	C	T	GUCY2C	c.341G>A	NM_004963.4	NP_004954.2:p.(Arg114Gln)	NC_000012.11:g.14839149C>T	(Likely) benign	1 lab	98f95f4fad
4:77134506 SCARB2 A>T	4	77134506	77134506	A	T	SCARB2	c.117+74T>A	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77134506A>T	(Likely) benign	1 lab	98ffbd0f11
2:179400588 TTN A>G	2	179400588	179400588	A	G	TTN	c.73946-12T>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179400588A>G	(Likely) benign	1 lab	990277fe17
15:43512784 EPB42 C>G	15	43512784	43512784	C	G	EPB42	c.100+140G>C	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43512784C>G	(Likely) benign	1 lab	9902e572f7
9:32488220 RIGI TCC>T	9	32488220	32488222	TCC	T	RIGI	c.954-21_954-20del	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32488221_32488222del	(Likely) benign	1 lab	9903c3cd36
22:51064623 ARSA C>T	22	51064623	51064623	C	T	ARSA	c.938G>A	NM_000487.6	NP_000478.3:p.(Arg313Gln)	NC_000022.10:g.51064623C>T	(Likely) pathogenic	1 lab	9905acff56
2:203329541 BMPR2 A>G	2	203329541	203329541	A	G	BMPR2	c.86A>G	NM_001204.6	NP_001195.2:p.(Asn29Ser)	NC_000002.11:g.203329541A>G	(Likely) benign	1 lab	990650368a
5:37185061 CPLANE1 A>G	5	37185061	37185061	A	G	CPLANE1	c.4310T>C	NM_023073.3	NP_075561.3:p.(Ile1437Thr)	NC_000005.9:g.37185061A>G	(Likely) benign	1 lab	9906cab9eb
16:56535427 BBS2 C>A	16	56535427	56535427	C	A	BBS2	c.1081-18G>T	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56535427C>A	(Likely) benign	1 lab	9907570ce3
2:166900137 SCN1A A>T	2	166900137	166900137	A	T	SCN1A	c.2043+42T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166900137A>T	(Likely) benign	1 lab	990aabdb90
1:228469742 OBSCN T>C	1	228469742	228469742	T	C	OBSCN	c.9593T>C	NM_001271223.2	NP_001258152.2:p.(Met3198Thr)	NC_000001.10:g.228469742T>C	(Likely) benign	1 lab	990e6fd370
1:113642918 LRIG2 A>G	1	113642918	113642918	A	G	LRIG2	c.1244+14A>G	NM_014813.2	NP_055628.1:p.?	NC_000001.10:g.113642918A>G	(Likely) benign	1 lab	9912ac973a
12:990168 WNK1 A>G	12	990168	990168	A	G	WNK1	c.3891+3A>G	NM_001184985.1	NP_001171914.1:p.?	NC_000012.11:g.990168A>G	VUS	1 lab	9914cc287e
1:237551624 RYR2 C>T	1	237551624	237551624	C	T	RYR2	c.773+141C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237551624C>T	(Likely) benign	1 lab	9916236a33
16:3293532 MEFV C>T	16	3293532	3293532	C	T	MEFV	c.1955G>A	NM_000243.2	NP_000234.1:p.(Arg652His)	NC_000016.9:g.3293532C>T	VUS	1 lab	9916a84483
1:158627488 SPTA1 T>C	1	158627488	158627488	T	C	SPTA1	c.2588-4A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158627488T>C	(Likely) benign	1 lab	9918dc0446
6:161127558 PLG G>A	6	161127558	161127558	G	A	PLG	c.169G>A	NM_000301.3	NP_000292.1:p.(Glu57Lys)	NC_000006.11:g.161127558G>A	(Likely) benign	1 lab	9919f9c4df
6:138199671 TNFAIP3 G>A	6	138199671	138199671	G	A	TNFAIP3	c.1089G>A	NM_006290.4	NP_006281.1:p.(Gly363=)	NC_000006.11:g.138199671G>A	(Likely) benign	1 lab	991b8647cd
11:77835149 ALG8 T>A	11	77835149	77835149	T	A	ALG8	c.286A>T	NM_024079.5	NP_076984.2:p.(Asn96Tyr)	NC_000011.9:g.77835149T>A	VUS	1 lab	991e666fd9
5:95768842 PCSK1 G>A	5	95768842	95768842	G	A	PCSK1	c.-96C>T	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95768842G>A	(Likely) benign	1 lab	992703d741
9:130605527 ENG G>C	9	130605527	130605527	G	C	ENG	c.68-3C>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130605527G>C	VUS	1 lab	992809d0f6
9:138656805 KCNT1 GC>G	9	138656805	138656808	GC	G	KCNT1	c.1036-69del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138656808del	(Likely) benign	1 lab	992ff06f94
X:100658851 GLA A>C	X	100658851	100658851	A	C	GLA	c.317T>G	NM_000169.2	NP_000160.1:p.(Leu106Arg)	NC_000023.10:g.100658851A>C	(Likely) pathogenic	1 lab	9938cf8ec4
2:169847310 ABCB11 C>G	2	169847310	169847310	C	G	ABCB11	c.908+1G>C	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169847310C>G	VUS	1 lab	993ba65549
16:23387068 SCNN1B C>T	16	23387068	23387068	C	T	SCNN1B	c.1162C>T	NM_000336.3	NP_000327.2:p.(Arg388Cys)	NC_000016.9:g.23387068C>T	(Likely) benign	1 lab	9945aef799
3:168810735 MECOM G>A	3	168810735	168810735	G	A	MECOM	c.2600+11C>T	NM_001105078.4	NP_001098548.2:p.?	NC_000003.11:g.168810735G>A	(Likely) benign	1 lab	994debbf5e
2:145156297 ZEB2 T>C	2	145156297	145156297	T	C	ZEB2	c.2457A>G	NM_014795.4	NP_055610.1:p.(Ser819=)	NC_000002.11:g.145156297T>C	(Likely) benign	1 lab	994dfb592c
21:35247816 ITSN1 C>G	21	35247816	35247816	C	G	ITSN1	c.4332C>G	NM_003024.3	NP_003015.2:p.(Gly1444=)	NC_000021.8:g.35247816C>G	(Likely) benign	1 lab	994e88c61b
11:64368987 SLC22A12 G>A	11	64368987	64368987	G	A	SLC22A12	c.1626G>A	NM_144585.4	NP_653186.2:p.(Thr542=)	NC_000011.9:g.64368987G>A	(Likely) benign	1 lab	994f436629
16:3299742 MEFV C>T	16	3299742	3299742	C	T	MEFV	c.949G>A	NM_000243.2	NP_000234.1:p.(Ala317Thr)	NC_000016.9:g.3299742C>T	(Likely) benign	1 lab	99518b1abc
10:102566371 PAX2 G>A	10	102566371	102566371	G	A	PAX2	c.792+9G>A	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102566371G>A	(Likely) benign	1 lab	995ae3099c
1:155161881 MUC1 C>T	1	155161881	155161881	C	T	MUC1	c.279G>A	NM_001204286.1	NP_001191215.1:p.(Thr93=)	NC_000001.10:g.155161881C>T	(Likely) benign	1 lab	995fc55ce0
1:8555165 RERE G>A	1	8555165	8555165	G	A	RERE	c.1062C>T	NM_012102.4	NP_036234.3:p.(Val354=)	NC_000001.10:g.8555165G>A	(Likely) benign	1 lab	9961b57253
8:144999243 PLEC G>A	8	144999243	144999243	G	A	PLEC	c.5265C>T	NM_201380.4	NP_958782.1:p.(Ala1755=)	NC_000008.10:g.144999243G>A	(Likely) benign	1 lab	996331d8cc
1:33478576 AK2 T>C	1	33478576	33478576	T	C	AK2				NC_000001.10:g.33478576T>C	(Likely) benign	1 lab	99643ee39e
1:158587784 SPTA1 T>G	1	158587784	158587784	T	G	SPTA1	c.6548+45A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158587784T>G	(Likely) benign	1 lab	99684fa657
1:43904779 SZT2 A>C	1	43904779	43904779	A	C	SZT2	c.6621+15A>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43904779A>C	(Likely) benign	1 lab	996ca28607
9:129458673 LMX1B C>T	9	129458673	129458673	C	T	LMX1B	c.1131C>T	NM_002316.4	NP_002307.2:p.(Arg377=)	NC_000009.11:g.129458673C>T	(Likely) benign	1 lab	996e50d433
2:15319247 NBAS C>T	2	15319247	15319247	C	T	NBAS	c.6712-7G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15319247C>T	(Likely) benign	1 lab	996f5d1900
3:127785803 SEC61A1 C>A	3	127785803	127785803	C	A	SEC61A1	c.784C>A	NM_013336.4	NP_037468.1:p.(Arg262=)	NC_000003.11:g.127785803C>A	(Likely) benign	1 lab	9971770039
16:3304351 MEFV T>A	16	3304351	3304351	T	A	MEFV	c.717A>T	NM_000243.2	NP_000234.1:p.(Arg239=)	NC_000016.9:g.3304351T>A	(Likely) benign	1 lab	9979871f9f
16:3306553 MEFV G>A	16	3306553	3306553	G	A	MEFV	c.35C>T	NM_000243.2	NP_000234.1:p.(Thr12Ile)	NC_000016.9:g.3306553G>A	VUS	1 lab	997b4c0058
9:138678006 KCNT1 C>A	9	138678006	138678006	C	A	KCNT1	c.3178-37C>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138678006C>A	(Likely) benign	1 lab	997ec6bd37
3:128971732 COPG1 G>A	3	128971732	128971732	G	A	COPG1	c.257G>A	NM_016128.4	NP_057212.1:p.(Arg86Gln)	NC_000003.11:g.128971732G>A	VUS	1 lab	d41ec258cd
X:107802385 COL4A5 T>C	X	107802385	107802385	T	C	COL4A5	c.231+2T>C	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107802385T>C	(Likely) pathogenic	1 lab	99802ea951
17:27061980 NEK8 C>T	17	27061980	27061980	C	T	NEK8	c.444C>T	NM_178170.3	NP_835464.1:p.(Phe148=)	NC_000017.10:g.27061980C>T	(Likely) benign	1 lab	998066aa06
2:15372563 NBAS G>A	2	15372563	15372563	G	A	NBAS	c.6219C>T	NM_015909.4	NP_056993.2:p.(His2073=)	NC_000002.11:g.15372563G>A	(Likely) benign	1 lab	99810b3d40
1:227172232 COQ8A C>T	1	227172232	227172232	C	T	COQ8A	c.1399-17C>T	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227172232C>T	(Likely) benign	1 lab	998c2de414
4:114275971 ANK2 G>A	4	114275971	114275971	G	A	ANK2	c.6197G>A	NM_001148.4	NP_001139.3:p.(Arg2066Lys)	NC_000004.11:g.114275971G>A	(Likely) benign	1 lab	998ef1d632
1:33502376 AK2 G>A	1	33502376	33502376	G	A	AK2				NC_000001.10:g.33502376G>A	(Likely) benign	1 lab	99921c8da5
2:178097289 NFE2L2 G>A	2	178097289	178097289	G	A	NFE2L2	c.425C>T	NM_006164.5	NP_006155.2:p.(Ser142Leu)	NC_000002.11:g.178097289G>A	(Likely) benign	1 lab	9992af0084
1:223284528 TLR5 A>G	1	223284528	223284528	A	G	TLR5	c.1846T>C	NM_003268.6	NP_003259.2:p.(Phe616Leu)	NC_000001.10:g.223284528A>G	(Likely) benign	1 lab	999779d5d9
21:46309429 ITGB2 C>T	21	46309429	46309429	C	T	ITGB2	c.1658-19G>A	NM_001127491.3	NP_001120963.2:p.?	NC_000021.8:g.46309429C>T	(Likely) benign	1 lab	9998c962d3
5:142678361 NR3C1 G>A	5	142678361	142678361	G	A	NR3C1	c.1764C>T	NM_001018077.1	NP_001018087.1:p.(His588=)	NC_000005.9:g.142678361G>A	(Likely) benign	1 lab	99a493d04d
16:3735979 TRAP1 G>A	16	3735979	3735979	G	A	TRAP1	c.471+18C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3735979G>A	(Likely) benign	1 lab	99a771f71b
5:80149953 MSH3 G>T	5	80149953	80149953	G	T	MSH3	c.2818G>T	NM_002439.5	NP_002430.3:p.(Gly940Cys)	NC_000005.9:g.80149953G>T	VUS	1 lab	99a897eb68
7:103194271 RELN T>C	7	103194271	103194271	T	C	RELN	c.5805A>G	NM_005045.4	NP_005036.2:p.(Lys1935=)	NC_000007.13:g.103194271T>C	(Likely) benign	1 lab	99a9179f28
16:4848611 ROGDI C>T	16	4848611	4848611	C	T	ROGDI	c.490G>A	NM_024589.3	NP_078865.1:p.(Ala164Thr)	NC_000016.9:g.4848611C>T	VUS	1 lab	d41f1c5262
2:179425055 TTN T>A	2	179425055	179425055	T	A	TTN	c.85804A>T	NM_001267550.1	NP_001254479.1:p.(Lys28602Ter)	NC_000002.11:g.179425055T>A	(Likely) pathogenic	1 lab	99afa63118
1:149897906 SF3B4 G>A	1	149897906	149897906	G	A	SF3B4	c.735C>T	NM_005850.5	NP_005841.1:p.(Pro245=)	NC_000001.10:g.149897906G>A	(Likely) benign	1 lab	99b6fffe2a
16:28499121 CLN3 C>T	16	28499121	28499121	C	T	CLN3	c.295-59G>A	NM_001042432.1	NP_001035897.1:p.?	NC_000016.9:g.28499121C>T	(Likely) benign	1 lab	99b705137a
X:111000881 ALG13 A>G	X	111000881	111000881	A	G	ALG13	c.2805A>G	NM_001257231.1	NP_001244160.1:p.(Val935=)	NC_000023.10:g.111000881A>G	(Likely) benign	1 lab	99ba267acf
21:36164789 RUNX1 C>G	21	36164789	36164789	C	G	RUNX1	c.1005G>C	NM_001001890.3	NP_001001890.1:p.(Ser335=)	NC_000021.8:g.36164789C>G	(Likely) benign	1 lab	99c1f1e68b
2:238303906 COL6A3 A>G	2	238303906	238303906	A	G	COL6A3	c.92-59T>C	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238303906A>G	(Likely) benign	1 lab	99c2412a91
14:102509953 DYNC1H1 G>C	14	102509953	102509953	G	C	DYNC1H1	c.12514-259G>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102509953G>C	(Likely) benign	1 lab	99c8544599
10:75863665 VCL G>A	10	75863665	75863665	G	A	VCL	c.2110G>A	NM_014000.2	NP_054706.1:p.(Asp704Asn)	NC_000010.10:g.75863665G>A	VUS	1 lab	99c8ebbe78
19:55445775 NLRP7 G>GC	19	55445775	55445776	G	GC	NLRP7	c.2471+81_2471+82insG	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55445775_55445776insC	(Likely) benign	1 lab	99d0b6545c
8:41522407 ANK1 G>C	8	41522407	41522407	G	C	ANK1	c.5395-1147C>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41522407G>C	(Likely) benign	1 lab	99d65f52b6
1:57347219 C8A G>A	1	57347219	57347219	G	A	C8A	c.566G>A	NM_000562.2	NP_000553.1:p.(Arg189Gln)	NC_000001.10:g.57347219G>A	(Likely) benign	1 lab	99da5aeb49
6:32946824 BRD2 G>GTT	6	32946824	32946833	G	GTT	BRD2	c.1842-35_1842-34dup	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946832_32946833dup	(Likely) benign	1 lab	99e2b04563
15:48936933 FBN1 C>T	15	48936933	48936933	C	T	FBN1	c.34G>A	NM_000138.4	NP_000129.3:p.(Gly12Arg)	NC_000015.9:g.48936933C>T	VUS	1 lab	99e30c53d0
17:77753191 CBX2 C>T	17	77753191	77753191	C	T	CBX2	c.147C>T	NM_005189.3	NP_005180.1:p.(Ile49=)	NC_000017.10:g.77753191C>T	(Likely) benign	1 lab	99e4efbea0
2:179605978 TTN T>G	2	179605978	179605978	T	G	TTN	c.11982A>C	NM_001267550.2	NP_001254479.2:p.(Gly3994=)	NC_000002.11:g.179605978T>G	(Likely) benign	1 lab	d41f900e7b
5:177035581 B4GALT7 G>T	5	177035581	177035581	G	T	B4GALT7	c.681G>T	NM_007255.3	NP_009186.1:p.(Glu227Asp)	NC_000005.9:g.177035581G>T	(Likely) pathogenic	1 lab	99e9e0fa04
12:49440084 KMT2D G>A	12	49440084	49440084	G	A	KMT2D	c.4542C>T	NM_003482.3	NP_003473.3:p.(Tyr1514=)	NC_000012.11:g.49440084G>A	(Likely) benign	1 lab	99f2ca5690
16:89576766 SPG7 T>C	16	89576766	89576766	T	C	SPG7	c.184-132T>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89576766T>C	(Likely) benign	1 lab	99f3f38c77
3:9482334 SETD5 TA>T	3	9482334	9482336	TA	T	SETD5	c.764del	NM_001080517.3	NP_001073986.1:p.(Lys255ArgfsTer32)	NC_000003.11:g.9482336del	(Likely) pathogenic	1 lab	d4212c4761
18:33793419 MOCOS A>G	18	33793419	33793419	A	G	MOCOS	c.1309A>G	NM_017947.4	NP_060417.4:p.(Asn437Asp)	NC_000018.9:g.33793419A>G	(Likely) benign	1 lab	9a031c67a4
3:10191506 VHL C>T	3	10191506	10191506	C	T	VHL	c.499C>T	NM_000551.3	NP_000542.1:p.(Arg167Trp)	NC_000003.11:g.10191506C>T	(Likely) pathogenic	1 lab	9a0ab74c3d
11:64574672 MEN1 T>C	11	64574672	64574672	T	C	MEN1	c.818A>G	NM_130804.2	NP_570716.1:p.(Tyr273Cys)	NC_000011.9:g.64574672T>C	(Likely) pathogenic	1 lab	9a0df7aa45
9:124089775 GSN G>C	9	124089775	124089775	G	C	GSN	c.1915+15G>C	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124089775G>C	(Likely) benign	1 lab	9a10b7b852
14:24619253 RNF31 C>A	14	24619253	24619253	C	A	RNF31	c.810-17C>A	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24619253C>A	(Likely) benign	1 lab	9a1275f75a
3:77645758 ROBO2 G>C	3	77645758	77645758	G	C	ROBO2	c.2727-16G>C	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77645758G>C	(Likely) benign	1 lab	9a136ab7ed
12:125460022 DHX37 C>T	12	125460022	125460022	C	T	DHX37	c.923G>A	NM_032656.4	NP_116045.2:p.(Arg308Gln)	NC_000012.11:g.125460022C>T	(Likely) pathogenic	1 lab	9a1a0e2d09
21:47532544 COL6A2 C>T	21	47532544	47532544	C	T	COL6A2	c.714+53C>T	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47532544C>T	(Likely) benign	1 lab	9a1a2ffbef
12:44152835 IRAK4 C>T	12	44152835	44152835	C	T	IRAK4	c.-10+16C>T	NM_016123.3	NP_057207.2:p.?	NC_000012.11:g.44152835C>T	(Likely) benign	1 lab	9a1c0c3e7c
15:59497600 MYO1E G>T	15	59497600	59497600	G	T	MYO1E	c.1615C>A	NM_004998.3	NP_004989.2:p.(Leu539Met)	NC_000015.9:g.59497600G>T	(Likely) benign	1 lab	9a1dc1076f
22:46088888 ATXN10 G>A	22	46088888	46088888	G	A	ATXN10	c.321G>A	NM_013236.4	NP_037368.1:p.(Thr107=)	NC_000022.10:g.46088888G>A	(Likely) benign	1 lab	9a1dcaaf31
4:9998464 SLC2A9 G>A	4	9998464	9998464	G	A	SLC2A9	c.351C>T	NM_020041.3	NP_064425.2:p.(Phe117=)	NC_000004.11:g.9998464G>A	(Likely) benign	1 lab	9a211fce17
2:211457713 CPS1 CA>C	2	211457713	211457723	CA	C	CPS1	c.1164+43del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211457723del	(Likely) benign	1 lab	9a22f11fa0
17:44046688 MAPT T>C	17	44046688	44046688	T	C	MAPT	c.134-2537T>C	NM_001123066.3	NP_001116538.2:p.?	NC_000017.10:g.44046688T>C	(Likely) benign	1 lab	9a25610876
15:93492177 CHD2 T>C	15	93492177	93492177	T	C	CHD2	c.1378-5T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93492177T>C	(Likely) benign	1 lab	9a26aeaddd
18:56390273 MALT1 T>C	18	56390273	56390273	T	C	MALT1	c.1019-7T>C	NM_006785.4	NP_006776.1:p.?	NC_000018.9:g.56390273T>C	(Likely) benign	1 lab	9a2e2b71b4
12:15722440 PTPRO G>A	12	15722440	15722440	G	A	PTPRO	c.2829+8G>A	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15722440G>A	(Likely) benign	1 lab	9a3401379d
16:3304685 MEFV T>TGTTCCCCTC	16	3304685	3304686	T	TGTTCCCCTC	MEFV	c.382_383insGAGGGGAAC	NM_000243.2	NP_000234.1:p.(Glu128delinsGlyGlyGluGln)	NC_000016.9:g.3304685_3304686insGTTCCCCTC	VUS	1 lab	9a341fb0c1
X:153295944 MECP2 C>T	X	153295944	153295944	C	T	MECP2	c.1335G>A	NM_004992.3	NP_004983.1:p.(Thr445=)	NC_000023.10:g.153295944C>T	(Likely) benign	1 lab	9a34c5c213
8:143955850 CYP11B1 A>T	8	143955850	143955850	A	T	CYP11B1	c.1451T>A	NM_000497.3	NP_000488.3:p.(Val484Asp)	NC_000008.10:g.143955850A>T	(Likely) benign	1 lab	9a53789160
1:210857483 KCNH1 G>GGAGA	1	210857483	210857501	G	GGAGA	KCNH1	c.2113-7_2113-4dup	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210857498_210857501dup	(Likely) benign	1 lab	9a35b51799
7:151263799 PRKAG2 GA>G	7	151263799	151263810	GA	G	PRKAG2	c.1234-829del	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151263810del	(Likely) benign	1 lab	9a3622cd6f
10:60549639 BICC1 C>T	10	60549639	60549639	C	T	BICC1	c.993C>T	NM_001080512.3	NP_001073981.1:p.(Thr331=)	NC_000010.10:g.60549639C>T	(Likely) benign	1 lab	9a3de5799e
17:42453291 ITGA2B C>G	17	42453291	42453291	C	G	ITGA2B	c.2511G>C	NM_000419.3	NP_000410.2:p.(Gln837His)	NC_000017.10:g.42453291C>G	(Likely) benign	1 lab	9a3eb8a864
6:129799959 LAMA2 G>A	6	129799959	129799959	G	A	LAMA2	c.7572+1G>A	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129799959G>A	(Likely) pathogenic	1 lab	9a4437a9e1
15:42701688 CAPN3 T>C	15	42701688	42701688	T	C	CAPN3	c.1992+110T>C	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42701688T>C	(Likely) benign	1 lab	9a4495e93c
7:111629217 DOCK4 C>T	7	111629217	111629217	C	T	DOCK4	c.317G>A	NM_014705.4	NP_055520.3:p.(Arg106His)	NC_000007.13:g.111629217C>T	(Likely) benign	1 lab	9a45081877
16:81129759 GCSH C>A	16	81129759	81129759	C	A	GCSH	c.125G>T	NM_004483.4	NP_004474.2:p.(Arg42Leu)	NC_000016.9:g.81129759C>A	(Likely) benign	1 lab	9a47fed113
12:80202303 PPP1R12A G>A	12	80202303	80202303	G	A	PPP1R12A	c.1510C>T	NM_001244990.1	NP_001231919.1:p.(Arg504Ter)	NC_000012.11:g.80202303G>A	(Likely) pathogenic	1 lab	9a4b7aa7fc
6:7568771 DSP A>G	6	7568771	7568771	A	G	DSP	c.1368A>G	NM_004415.2	NP_004406.2:p.(Arg456=)	NC_000006.11:g.7568771A>G	(Likely) benign	1 lab	9a4d8366b5
9:140344716 NSMF A>G	9	140344716	140344716	A	G	NSMF	c.1237-9T>C	NM_001130969.1	NP_001124441.1:p.?	NC_000009.11:g.140344716A>G	(Likely) benign	1 lab	9a508738f2
4:126240983 FAT4 T>C	4	126240983	126240983	T	C	FAT4				NC_000004.11:g.126240983T>C	(Likely) benign	1 lab	9ea60fca36
17:66535525 FAM20A G>A	17	66535525	66535525	G	A	FAM20A	c.1314C>T	NM_017565.4	NP_060035.2:p.(His438=)	NC_000017.10:g.66535525G>A	(Likely) benign	1 lab	9a56e75a01
4:170430020 NEK1 G>A	4	170430020	170430020	G	A	NEK1	c.1666-17C>T	NM_001374418.1	NP_001361347.1:p.?	NC_000004.11:g.170430020G>A	(Likely) benign	1 lab	9a5a4972ff
5:90021578 ADGRV1 C>A	5	90021578	90021578	C	A	ADGRV1	c.10161+105C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021578C>A	(Likely) benign	1 lab	9a5d2314a1
8:2005591 MYOM2 C>G	8	2005591	2005591	C	G	MYOM2	c.389C>G	NM_003970.4	NP_003961.3:p.(Ala130Gly)	NC_000008.10:g.2005591C>G	(Likely) benign	1 lab	9a5e025be1
16:2141865 PKD1 GC>G	16	2141865	2141870	GC	G	PKD1	c.11453del	NM_001009944.3	NP_001009944.3:p.(Gly3818AlafsTer8)	NC_000016.9:g.2141870del	(Likely) pathogenic	1 lab	9a62d908f9
5:41149447 C6 C>A	5	41149447	41149447	C	A	C6	c.2519G>T	NM_000065.2	NP_000056.2:p.(Gly840Val)	NC_000005.9:g.41149447C>A	(Likely) benign	1 lab	9a68c8d5a3
17:39925281 JUP C>T	17	39925281	39925281	C	T	JUP	c.647G>A	NM_021991.2	NP_068831.1:p.(Arg216Gln)	NC_000017.10:g.39925281C>T	VUS	1 lab	9a68ea2b3b
11:77817889 ALG8 T>G	11	77817889	77817889	T	G	ALG8	c.1142A>C	NM_024079.5	NP_076984.2:p.(His381Pro)	NC_000011.9:g.77817889T>G	(Likely) pathogenic	1 lab	9a6c2dbcb4
16:2140429 PKD1 GC>G	16	2140429	2140431	GC	G	PKD1	c.12300del	NM_001009944.3	NP_001009944.3:p.(Leu4101TrpfsTer97)	NC_000016.9:g.2140431del	(Likely) pathogenic	1 lab	9a6ce77c48
21:47404423 COL6A1 G>A	21	47404423	47404423	G	A	COL6A1	c.428+40G>A	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47404423G>A	(Likely) benign	1 lab	9a6ff6437e
11:32449661 WT1 G>A	11	32449661	32449661	G	A	WT1				NC_000011.9:g.32449661G>A	(Likely) benign	1 lab	9a72b541f9
1:114445236 AP4B1 CCAGA>C	1	114445236	114445244	CCAGA	C	AP4B1	c.338+20_338+23del	NM_001253852.3	NP_001240781.1:p.?	NC_000001.10:g.114445241_114445244del	(Likely) benign	1 lab	9a7e153fc7
12:110034380 MVK T>C	12	110034380	110034380	T	C	MVK	c.1189T>C	NM_000431.2	NP_000422.1:p.(Ter397ArgextTer34)	NC_000012.11:g.110034380T>C	(Likely) pathogenic	1 lab	9a7e25b055
12:111884547 SH2B3 G>C	12	111884547	111884547	G	C	SH2B3	c.733-10G>C	NM_005475.2	NP_005466.1:p.?	NC_000012.11:g.111884547G>C	(Likely) benign	1 lab	9a7f31e189
17:34207003 CCL5 A>G	17	34207003	34207003	A	G	CCL5	c.76+231T>C	NM_002985.3	NP_002976.2:p.?	NC_000017.10:g.34207003A>G	(Likely) benign	1 lab	9a854c4426
17:42336694 SLC4A1 T>A	17	42336694	42336694	T	A	SLC4A1	c.713A>T	NM_000342.4	NP_000333.1:p.(Glu238Val)	NC_000017.10:g.42336694T>A	(Likely) benign	1 lab	9a85e482a5
1:247588324 NLRP3 G>A	1	247588324	247588324	G	A	NLRP3	c.1573G>A	NM_001243133.2	NP_001230062.1:p.(Glu525Lys)	NC_000001.10:g.247588324G>A	(Likely) pathogenic	1 lab	9a87ec60b9
16:1903140 MEIOB T>G	16	1903140	1903140	T	G	MEIOB	c.683-5A>C	NM_001163560.3	NP_001157032.1:p.?	NC_000016.9:g.1903140T>G	(Likely) benign	1 lab	da1cf67837
13:32913406 BRCA2 A>G	13	32913406	32913406	A	G	BRCA2	c.4914A>G	NM_000059.3	NP_000050.2:p.(Lys1638=)	NC_000013.10:g.32913406A>G	VUS	1 lab	9a90acdf82
3:174974265 NAALADL2 C>T	3	174974265	174974265	C	T	NAALADL2	c.885C>T	NM_207015.3	NP_996898.2:p.(Asn295=)	NC_000003.11:g.174974265C>T	(Likely) benign	1 lab	9a9212f4c6
14:77493839 IRF2BPL G>A	14	77493839	77493839	G	A	IRF2BPL	c.297C>T	NM_024496.4	NP_078772.1:p.(Ala99=)	NC_000014.8:g.77493839G>A	(Likely) benign	1 lab	9a92f591d8
5:90041153 ADGRV1 C>A	5	90041153	90041153	C	A	ADGRV1	c.10769+71C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90041153C>A	(Likely) benign	1 lab	9a94af1acf
4:10022895 SLC2A9 C>T	4	10022895	10022895	C	T	SLC2A9	c.150+9G>A	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.10022895C>T	(Likely) benign	1 lab	9a95f7ce54
13:37393848 RFXAP G>C	13	37393848	37393848	G	C	RFXAP	c.354G>C	NM_000538.3	NP_000529.1:p.(Ser118=)	NC_000013.10:g.37393848G>C	(Likely) benign	1 lab	9a96975a35
2:179438189 TTN CA>C	2	179438189	179438190	CA	C	TTN	c.72669del	NM_001267550.2	NP_001254479.2:p.(Asp24224IlefsTer8)	NC_000002.11:g.179438190del	(Likely) pathogenic	1 lab	9a9c45be19
12:14720554 PLBD1 G>T	12	14720554	14720554	G	T	PLBD1	c.77C>A	NM_024829.6	NP_079105.4:p.(Pro26Gln)	NC_000012.11:g.14720554G>T	(Likely) benign	1 lab	9aa7568ba8
12:52162689 SCN8A G>C	12	52162689	52162689	G	C	SCN8A	c.2942G>C	NM_014191.4	NP_055006.1:p.(Ser981Thr)	NC_000012.11:g.52162689G>C	(Likely) pathogenic	1 lab	9aa7ce7fb6
10:78709044 KCNMA1 G>A	10	78709044	78709044	G	A	KCNMA1	c.2403C>T	NM_001014797.3	NP_001014797.1:p.(Ile801=)	NC_000010.10:g.78709044G>A	(Likely) benign	1 lab	9ab5585bb8
1:155206144 GBA1 G>A	1	155206144	155206144	G	A	GBA1	c.1116C>T	NM_001005741.3	NP_001005741.1:p.(Asn372=)	NC_000001.10:g.155206144G>A	(Likely) benign	1 lab	9ab5e5c577
10:27450035 MASTL G>A	10	27450035	27450035	G	A	MASTL	c.477G>A	NM_032844.5	NP_116233.2:p.(Pro159=)	NC_000010.10:g.27450035G>A	(Likely) benign	1 lab	9ab9dd43f5
2:179603928 TTN CACAG>C	2	179603928	179603935	CACAG	C	TTN	c.14028_14031del	NM_001267550.2	NP_001254479.2:p.(Cys4677ArgfsTer3)	NC_000002.11:g.179603932_179603935del	(Likely) pathogenic	1 lab	9abcf9e3ea
16:15813108 MYH11 C>T	16	15813108	15813108	C	T	MYH11	c.5161G>A	NM_001040113.2	NP_001035202.1:p.(Ala1721Thr)	NC_000016.9:g.15813108C>T	VUS	1 lab	9abf2425d3
6:90660928 BACH2 G>A	6	90660928	90660928	G	A	BACH2	c.897C>T	NM_021813.4	NP_068585.1:p.(Asp299=)	NC_000006.11:g.90660928G>A	(Likely) benign	1 lab	9abf8c8dfc
8:41529924 ANK1 G>A	8	41529924	41529924	G	A	ANK1	c.5044C>T	NM_000037.4	NP_000028.3:p.(Arg1682Ter)	NC_000008.10:g.41529924G>A	(Likely) pathogenic	1 lab	9ac5f348c4
17:78080202 GAA T>G	17	78080202	78080202	T	G	GAA	c.692+509T>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78080202T>G	(Likely) benign	1 lab	9ac7432cca
12:49360306 WNT10B TG>T	12	49360306	49360307	TG	T	WNT10B	c.741del	NM_003394.4	NP_003385.2:p.(Cys247Ter)	NC_000012.11:g.49360307del	(Likely) pathogenic	1 lab	9acca5fb1e
2:20162068 WDR35 T>C	2	20162068	20162068	T	C	WDR35	c.1215A>G	NM_001006657.2	NP_001006658.1:p.(Thr405=)	NC_000002.11:g.20162068T>C	(Likely) benign	1 lab	9acea314d3
8:2007303 MYOM2 C>T	8	2007303	2007303	C	T	MYOM2	c.590C>T	NM_003970.4	NP_003961.3:p.(Ala197Val)	NC_000008.10:g.2007303C>T	(Likely) benign	1 lab	9acee17c2f
2:178682655 PDE11A A>G	2	178682655	178682655	A	G	PDE11A	c.1577-3T>C	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178682655A>G	(Likely) benign	1 lab	d4285e786a
7:158455035 NCAPG2 T>C	7	158455035	158455035	T	C	NCAPG2	c.1840A>G	NM_017760.7	NP_060230.5:p.(Asn614Asp)	NC_000007.13:g.158455035T>C	(Likely) benign	1 lab	9ad30b7d64
12:66932832 GRIP1 T>C	12	66932832	66932832	T	C	GRIP1	c.418+26A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66932832T>C	(Likely) benign	1 lab	9ad6f1325a
4:126411164 FAT4 T>C	4	126411164	126411164	T	C	FAT4				NC_000004.11:g.126411164T>C	(Likely) benign	1 lab	9ad77d6e32
2:136872501 CXCR4 T>A	2	136872501	136872501	T	A	CXCR4	c.997A>T	NM_003467.2	NP_003458.1:p.(Lys333Ter)	NC_000002.11:g.136872501T>A	(Likely) pathogenic	1 lab	9ad7e2a310
18:29118702 DSG2 C>G	18	29118702	29118702	C	G	DSG2	c.1652-12C>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29118702C>G	(Likely) benign	1 lab	9adcb9afc4
16:3304411 MEFV G>A	16	3304411	3304411	G	A	MEFV	c.657C>T	NM_000243.2	NP_000234.1:p.(Gly219=)	NC_000016.9:g.3304411G>A	(Likely) benign	1 lab	9addf00e16
1:146765379 CHD1L A>G	1	146765379	146765379	A	G	CHD1L	c.2479A>G	NM_004284.6	NP_004275.4:p.(Ile827Val)	NC_000001.10:g.146765379A>G	(Likely) benign	1 lab	9ae0163916
1:158627317 SPTA1 C>A	1	158627317	158627317	C	A	SPTA1	c.2755G>T	NM_003126.3	NP_003117.2:p.(Glu919Ter)	NC_000001.10:g.158627317C>A	(Likely) pathogenic	1 lab	9ae170de3d
20:398445 RBCK1 C>G	20	398445	398445	C	G	RBCK1	c.331C>G	NM_031229.4	NP_112506.2:p.(Gln111Glu)	NC_000020.10:g.398445C>G	(Likely) benign	1 lab	9ae39adb53
14:103395086 AMN C>T	14	103395086	103395086	C	T	AMN	c.296-9C>T	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103395086C>T	(Likely) benign	1 lab	9ae545e62c
6:86324677 SYNCRIP G>A	6	86324677	86324677	G	A	SYNCRIP	c.1353+22C>T	NM_001159673.2	NP_001153145.1:p.?	NC_000006.11:g.86324677G>A	VUS	1 lab	d42902f3dc
1:158061309 KIRREL1 C>T	1	158061309	158061309	C	T	KIRREL1	c.1134C>T	NM_001286349.1	NP_001273278.1:p.(Phe378=)	NC_000001.10:g.158061309C>T	(Likely) benign	1 lab	9ae6a435f6
17:40937157 WNK4 G>A	17	40937157	40937157	G	A	WNK4	c.1213G>A	NM_032387.5	NP_115763.2:p.(Val405Met)	NC_000017.10:g.40937157G>A	(Likely) benign	1 lab	9ae6b313f0
19:11560089 PRKCSH C>T	19	11560089	11560089	C	T	PRKCSH	c.1449C>T	NM_002743.3	NP_002734.2:p.(Leu483=)	NC_000019.9:g.11560089C>T	(Likely) benign	1 lab	9ae6ed3392
2:47630472 MSH2 G>T	2	47630472	47630472	G	T	MSH2	c.142G>T	NM_000251.3	NP_000242.1:p.(Glu48Ter)	NC_000002.11:g.47630472G>T	(Likely) pathogenic	1 lab	d42ccfdf05
7:150671915 KCNH2 C>T	7	150671915	150671915	C	T	KCNH2	c.191G>A	NM_000238.3	NP_000229.1:p.(Cys64Tyr)	NC_000007.13:g.150671915C>T	(Likely) pathogenic	1 lab	9aeeee04ae
17:41053029 G6PC C>T	17	41053029	41053029	C	T	G6PC				NC_000017.10:g.41053029C>T	(Likely) benign	1 lab	9af0b3f8e4
5:77412017 AP3B1 A>G	5	77412017	77412017	A	G	AP3B1	c.2010T>C	NM_003664.4	NP_003655.3:p.(Asn670=)	NC_000005.9:g.77412017A>G	(Likely) benign	1 lab	9af265b15c
4:79350382 FRAS1 T>C	4	79350382	79350382	T	C	FRAS1	c.4843+2T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79350382T>C	(Likely) pathogenic	1 lab	9af4d1d071
21:36171638 RUNX1 G>A	21	36171638	36171638	G	A	RUNX1	c.846C>T	NM_001001890.3	NP_001001890.1:p.(Gly282=)	NC_000021.8:g.36171638G>A	(Likely) benign	1 lab	9b027a9fee
18:29078269 DSG2 G>T	18	29078269	29078269	G	T	DSG2	c.45+10G>T	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29078269G>T	(Likely) benign	1 lab	9b027b03d1
16:2156545 PKD1 A>C	16	2156545	2156545	A	C	PKD1	c.7343T>G	NM_001009944.2	NP_001009944.2:p.(Leu2448Arg)	NC_000016.9:g.2156545A>C	(Likely) pathogenic	1 lab	9b0365af2b
17:15143011 PMP22 A>G	17	15143011	15143011	A	G	PMP22	c.179-83T>C	NM_000304.2	NP_000295.1:p.?	NC_000017.10:g.15143011A>G	(Likely) benign	1 lab	9b0a46c6fb
19:2111267 AP3D1 G>A	19	2111267	2111267	G	A	AP3D1	c.2985+17C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2111267G>A	(Likely) benign	1 lab	9b0de49b33
5:70241984 SMN1 A>G	5	70241984	70241984	A	G	SMN1	c.815A>G	NM_000344.3	NP_000335.1:p.(Tyr272Cys)	NC_000005.9:g.70241984A>G	(Likely) pathogenic	1 lab	d42d5df006
1:196967422 CFHR5 G>C	1	196967422	196967422	G	C	CFHR5	c.1135G>C	NM_030787.3	NP_110414.1:p.(Val379Leu)	NC_000001.10:g.196967422G>C	(Likely) benign	1 lab	9b14b3e488
10:97975167 BLNK G>GTA	10	97975167	97975187	G	GTA	BLNK	c.608-24_608-23dup	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.97975186_97975187dup	(Likely) benign	1 lab	9b18a443a8
11:108198458 ATM G>A	11	108198458	108198458	G	A	ATM	c.7062G>A	NM_000051.3	NP_000042.3:p.(Ala2354=)	NC_000011.9:g.108198458G>A	(Likely) benign	1 lab	9b21090c30
17:41215826 BRCA1 G>A	17	41215826	41215826	G	A	BRCA1	c.5152+65C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215826G>A	(Likely) benign	1 lab	9b272bf85c
12:32994141 PKP2 T>C	12	32994141	32994141	T	C	PKP2	c.1511-2A>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32994141T>C	(Likely) pathogenic	1 lab	9b2a27b8e8
5:136975544 KLHL3 C>T	5	136975544	136975544	C	T	KLHL3	c.1021+5G>A	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.136975544C>T	(Likely) benign	1 lab	9b2f31f573
9:325811 DOCK8 T>TC	9	325811	325812	T	TC	DOCK8	c.894+74_894+75insC	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.325811_325812insC	(Likely) benign	1 lab	9b3150cc71
1:3322062 PRDM16 T>C	1	3322062	3322062	T	C	PRDM16	c.1036T>C	NM_022114.4	NP_071397.3:p.(Phe346Leu)	NC_000001.10:g.3322062T>C	VUS	1 lab	9b38402283
5:89977095 ADGRV1 AT>A	5	89977095	89977105	AT	A	ADGRV1	c.5525-27del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89977105del	(Likely) benign	1 lab	9b3afc3da8
X:119680979 CUL4B T>TA	X	119680979	119680984	T	TA	CUL4B	c.830+11dup	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119680984dup	(Likely) benign	1 lab	9b3ee9f7e3
10:14951262 DCLRE1C C>T	10	14951262	14951262	C	T	DCLRE1C	c.1224G>A	NM_001033855.1	NP_001029027.1:p.(Pro408=)	NC_000010.10:g.14951262C>T	(Likely) benign	1 lab	9b413d7a3f
18:47500836 MYO5B G>A	18	47500836	47500836	G	A	MYO5B	c.1206C>T	NM_001080467.3	NP_001073936.1:p.(Asn402=)	NC_000018.9:g.47500836G>A	(Likely) benign	1 lab	9b4218fdc5
2:166226581 SCN2A A>G	2	166226581	166226581	A	G	SCN2A	c.3676-55A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166226581A>G	(Likely) benign	1 lab	9b446e080d
3:169099167 MECOM A>G	3	169099167	169099167	A	G	MECOM	c.183T>C	NM_004991.4	NP_004982.2:p.(Gly61=)	NC_000003.11:g.169099167A>G	(Likely) benign	1 lab	9b463a2928
22:23915429 IGLL1 T>G	22	23915429	23915429	T	G	IGLL1				NC_000022.10:g.23915429T>G	(Likely) benign	1 lab	9b4aefea82
1:155263086 PKLR C>A	1	155263086	155263086	C	A	PKLR	c.1318G>T	NM_000298.6	NP_000289.1:p.(Glu440Ter)	NC_000001.10:g.155263086C>A	(Likely) pathogenic	1 lab	9b4b66aa2b
15:90192418 KIF7 C>A	15	90192418	90192418	C	A	KIF7	c.710G>T	NM_198525.3	NP_940927.2:p.(Arg237Leu)	NC_000015.9:g.90192418C>A	(Likely) benign	1 lab	9b4c29cbbf
4:88973161 PKD2 G>A	4	88973161	88973161	G	A	PKD2	c.1567G>A	NM_000297.4	NP_000288.1:p.(Gly523Arg)	NC_000004.11:g.88973161G>A	VUS	1 lab	9b54463395
6:49419351 MMUT G>A	6	49419351	49419351	G	A	MMUT	c.1160C>T	NM_000255.4	NP_000246.2:p.(Thr387Ile)	NC_000006.11:g.49419351G>A	(Likely) pathogenic	1 lab	9b5b68ea66
12:110013741 MVK G>A	12	110013741	110013741	G	A	MVK	c.79-62G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110013741G>A	(Likely) benign	1 lab	9b6146fd61
1:158650373 SPTA1 C>T	1	158650373	158650373	C	T	SPTA1	c.678G>A	NM_003126.3	NP_003117.2:p.(Glu226=)	NC_000001.10:g.158650373C>T	(Likely) pathogenic	1 lab	9b66ea2b9d
9:6594977 GLDC A>T	9	6594977	6594977	A	T	GLDC	c.1261+37T>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6594977A>T	(Likely) benign	1 lab	9b6a7f5241
18:2951208 LPIN2 T>C	18	2951208	2951208	T	C	LPIN2	c.435A>G	NM_014646.2	NP_055461.1:p.(Thr145=)	NC_000018.9:g.2951208T>C	(Likely) benign	1 lab	9b9ebb7810
4:103533776 NFKB1 C>G	4	103533776	103533776	C	G	NFKB1	c.2592+13C>G	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103533776C>G	(Likely) benign	1 lab	9b6bf6fe57
17:61568617 ACE C>T	17	61568617	61568617	C	T	ACE	c.2787C>T	NM_000789.4	NP_000780.1:p.(Thr929=)	NC_000017.10:g.61568617C>T	(Likely) benign	1 lab	9b6f1520f6
9:128121785 GAPVD1 A>C	9	128121785	128121785	A	C	GAPVD1	c.4098+14A>C	NM_001282679.2	NP_001269608.1:p.?	NC_000009.11:g.128121785A>C	(Likely) benign	1 lab	9b716d7a2b
X:18668587 CDKL5 G>A	X	18668587	18668587	G	A	CDKL5	c.2855G>A	NM_003159.2	NP_003150.1:p.(Arg952Gln)	NC_000023.10:g.18668587G>A	(Likely) benign	1 lab	9b74112ecf
19:36330374 NPHS1 C>G	19	36330374	36330374	C	G	NPHS1	c.2927+24G>C	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36330374C>G	(Likely) benign	1 lab	9b7664c1d2
1:243468435 SDCCAG8 C>T	1	243468435	243468435	C	T	SDCCAG8	c.740+356C>T	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243468435C>T	(Likely) pathogenic	1 lab	9b773317e9
X:153295828 MECP2 C>G	X	153295828	153295828	C	G	MECP2	c.1451G>C	NM_004992.3	NP_004983.1:p.(Arg484Thr)	NC_000023.10:g.153295828C>G	(Likely) benign	1 lab	9b77422e0e
8:143995792 CYP11B2 T>C	8	143995792	143995792	T	C	CYP11B2	c.842A>G	NM_000498.3	NP_000489.3:p.(Asn281Ser)	NC_000008.10:g.143995792T>C	(Likely) benign	1 lab	9b797542a8
15:93524202 CHD2 T>C	15	93524202	93524202	T	C	CHD2	c.2973+61T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93524202T>C	(Likely) benign	1 lab	9b7bea11c4
5:90074698 ADGRV1 TC>T	5	90074698	90074700	TC	T	ADGRV1	c.12868del	NM_032119.4	NP_115495.3:p.(Arg4290ValfsTer16)	NC_000005.9:g.90074700del	(Likely) pathogenic	1 lab	d43094914f
1:39776556 MACF1 C>T	1	39776556	39776556	C	T	MACF1	c.3169C>T	NM_012090.5	NP_036222.3:p.(Arg1057Trp)	NC_000001.10:g.39776556C>T	(Likely) benign	1 lab	d430993d79
16:15820814 MYH11 ACCT>A	16	15820814	15820820	ACCT	A	MYH11	c.3746_3748del	NM_002474.3	NP_002465.1:p.(Glu1249del)	NC_000016.9:g.15820818_15820820del	VUS	1 lab	9b7e2a8f92
3:4725191 ITPR1 C>T	3	4725191	4725191	C	T	ITPR1	c.3238C>T	NM_001168272.2	NP_001161744.1:p.(Arg1080Trp)	NC_000003.11:g.4725191C>T	VUS	1 lab	d435a753b1
15:51868380 DMXL2 T>TAAAAAAAAAAAAAAAAAAA	15	51868380	51868400	T	TAAAAAAAAAAAAAAAAAAA	DMXL2	c.88-21_88-3dup	NM_001174116.2	NP_001167587.1:p.?	NC_000015.9:g.51868382_51868400dup	(Likely) benign	1 lab	9b815c10d4
2:47637252 MSH2 C>T	2	47637252	47637252	C	T	MSH2	c.386C>T	NM_000251.2	NP_000242.1:p.(Ser129Phe)	NC_000002.11:g.47637252C>T	VUS	1 lab	9b860d6def
16:3299518 MEFV A>G	16	3299518	3299518	A	G	MEFV	c.1173T>C	NM_000243.2	NP_000234.1:p.(Asp391=)	NC_000016.9:g.3299518A>G	(Likely) benign	1 lab	9b908e4ea2
2:73678772 ALMS1 A>G	2	73678772	73678772	A	G	ALMS1	c.5121A>G	NM_015120.4	NP_055935.4:p.(Ser1707=)	NC_000002.11:g.73678772A>G	(Likely) benign	1 lab	9b9576123b
4:10078950 WDR1 C>T	4	10078950	10078950	C	T	WDR1	c.1692G>A	NM_017491.5	NP_059830.1:p.(Pro564=)	NC_000004.11:g.10078950C>T	(Likely) benign	1 lab	9b96b91d1a
17:41216205 BRCA1 G>T	17	41216205	41216205	G	T	BRCA1	c.5075-237C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41216205G>T	(Likely) benign	1 lab	9b98570afc
17:40476837 STAT3 T>C	17	40476837	40476837	T	C	STAT3	c.1492A>G	NM_139276.3	NP_644805.1:p.(Ile498Val)	NC_000017.10:g.40476837T>C	(Likely) benign	1 lab	d436066fb7
12:52309239 ACVRL1 A>G	12	52309239	52309239	A	G	ACVRL1	c.1003A>G	NM_000020.2	NP_000011.2:p.(Asn335Asp)	NC_000012.11:g.52309239A>G	(Likely) pathogenic	1 lab	9b9d2ac979
2:204736165 CTLA4 G>GTT	2	204736165	204736172	G	GTT	CTLA4	c.528_529dup	NM_005214.5	NP_005205.2:p.(Tyr177PhefsTer11)	NC_000002.11:g.204736171_204736172dup	(Likely) pathogenic	1 lab	9b9fc29606
4:2831717 SH3BP2 A>G	4	2831717	2831717	A	G	SH3BP2	c.1168A>G	NM_001145855.2	NP_001139327.1:p.(Ile390Val)	NC_000004.11:g.2831717A>G	(Likely) benign	1 lab	9ba0f1b3c5
1:1959163 GABRD C>T	1	1959163	1959163	C	T	GABRD	c.553+65C>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1959163C>T	(Likely) benign	1 lab	9ba46953e5
4:187518196 FAT1 C>T	4	187518196	187518196	C	T	FAT1	c.12498G>A	NM_005245.4	NP_005236.2:p.(Ala4166=)	NC_000004.11:g.187518196C>T	(Likely) benign	1 lab	9ba6311ed5
9:138664762 KCNT1 C>T	9	138664762	138664762	C	T	KCNT1	c.2210C>T	NM_020822.2	NP_065873.2:p.(Thr737Met)	NC_000009.11:g.138664762C>T	(Likely) benign	1 lab	9ba962b1ad
17:61566370 ACE C>A	17	61566370	61566370	C	A	ACE	c.2518C>A	NM_000789.4	NP_000780.1:p.(Arg840=)	NC_000017.10:g.61566370C>A	(Likely) benign	1 lab	9baa687148
16:88876886 APRT C>T	16	88876886	88876886	C	T	APRT	c.266G>A	NM_000485.3	NP_000476.1:p.(Arg89Gln)	NC_000016.9:g.88876886C>T	(Likely) benign	1 lab	9baebb3b43
6:3111116 RIPK1 G>A	6	3111116	3111116	G	A	RIPK1	c.1656G>A	NM_003804.6	NP_003795.2:p.(Thr552=)	NC_000006.11:g.3111116G>A	(Likely) benign	1 lab	9bb3221822
11:118343393 KMT2A C>T	11	118343393	118343393	C	T	KMT2A	c.1519C>T	NM_001197104.1	NP_001184033.1:p.(Pro507Ser)	NC_000011.9:g.118343393C>T	(Likely) benign	1 lab	9bb6b4da0d
21:47544825 COL6A2 C>T	21	47544825	47544825	C	T	COL6A2	c.1761C>T	NM_058175.2	NP_478055.2:p.(Pro587=)	NC_000021.8:g.47544825C>T	(Likely) benign	1 lab	9bbc2cec6c
X:77113006 MAGT1 C>T	X	77113006	77113006	C	T	MAGT1	c.487-12G>A	NM_032121.5	NP_115497.4:p.?	NC_000023.10:g.77113006C>T	(Likely) benign	1 lab	9bc27b206c
16:1255206 CACNA1H C>A	16	1255206	1255206	C	A	CACNA1H	c.2544C>A	NM_021098.3	NP_066921.2:p.(Gly848=)	NC_000016.9:g.1255206C>A	(Likely) benign	1 lab	9bc390f1c0
7:128477738 FLNC G>A	7	128477738	128477738	G	A	FLNC	c.898G>A	NM_001458.4	NP_001449.3:p.(Val300Met)	NC_000007.13:g.128477738G>A	VUS	1 lab	9bc7c1b501
1:33502396 AK2 A>C	1	33502396	33502396	A	C	AK2	c.34T>G	NM_001625.4	NP_001616.1:p.(Tyr12Asp)	NC_000001.10:g.33502396A>C	(Likely) benign	1 lab	9bd2677c1f
20:35545168 SAMHD1 A>T	20	35545168	35545168	A	T	SAMHD1	c.1019T>A	NM_015474.3	NP_056289.2:p.(Val340Asp)	NC_000020.10:g.35545168A>T	VUS	1 lab	9bd2bfd2ed
15:59517121 MYO1E T>A	15	59517121	59517121	T	A	MYO1E	c.643-99A>T	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59517121T>A	(Likely) benign	1 lab	9bd4f11fbc
22:32269346 DEPDC5 G>A	22	32269346	32269346	G	A	DEPDC5	c.3563+28G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32269346G>A	(Likely) benign	1 lab	9bd6990c74
6:7582770 DSP CT>C	6	7582770	7582780	CT	C	DSP	c.5380-95del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7582780del	(Likely) benign	1 lab	9bd7813e82
19:10488969 TYK2 G>T	19	10488969	10488969	G	T	TYK2	c.114C>A	NM_003331.4	NP_003322.3:p.(Gly38=)	NC_000019.9:g.10488969G>T	(Likely) benign	1 lab	9bd9147c7f
1:247587541 NLRP3 C>G	1	247587541	247587541	C	G	NLRP3	c.790C>G	NM_001243133.2	NP_001230062.1:p.(Leu264Val)	NC_000001.10:g.247587541C>G	(Likely) pathogenic	1 lab	9bdc809c1f
18:28660207 DSC2 T>C	18	28660207	28660207	T	C	DSC2	c.1375A>G	NM_004949.3	NP_004940.1:p.(Thr459Ala)	NC_000018.9:g.28660207T>C	VUS	1 lab	9bdd761f1a
18:48444772 ME2 A>C	18	48444772	48444772	A	C	ME2	c.734+189A>C	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48444772A>C	(Likely) benign	1 lab	9bde66bd9f
6:145946582 EPM2A A>G	6	145946582	145946582	A	G	EPM2A	c.*249T>C	NM_001018041.2	NP_001018051.1:p.?	NC_000006.11:g.145946582A>G	(Likely) benign	1 lab	9be0252c37
11:117863938 IL10RA C>G	11	117863938	117863938	C	G	IL10RA	c.368-18C>G	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117863938C>G	(Likely) benign	1 lab	9be2b6e2c3
16:30976989 SETD1A C>T	16	30976989	30976989	C	T	SETD1A	c.1787C>T	NM_014712.3	NP_055527.1:p.(Pro596Leu)	NC_000016.9:g.30976989C>T	(Likely) benign	1 lab	9be39e7996
2:179476162 TTN T>A	2	179476162	179476162	T	A	TTN	c.23974A>T	NM_133432.3	NP_597676.3:p.(Asn7992Tyr)	NC_000002.11:g.179476162T>A	VUS	1 lab	9be6d30499
11:108218196 ATM T>C	11	108218196	108218196	T	C	ATM	c.8671+104T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108218196T>C	(Likely) benign	1 lab	9be71f1f81
2:168102211 XIRP2 C>T	2	168102211	168102211	C	T	XIRP2	c.4309C>T	NM_152381.6	NP_689594.4:p.(Arg1437Ter)	NC_000002.11:g.168102211C>T	(Likely) pathogenic	1 lab	9bead8d18d
9:138644413 KCNT1 C>T	9	138644413	138644413	C	T	KCNT1	c.435-1370C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138644413C>T	(Likely) benign	1 lab	9bec5554ac
X:70355028 MED12 G>A	X	70355028	70355028	G	A	MED12	c.4950G>A	NM_005120.3	NP_005111.2:p.(Thr1650=)	NC_000023.10:g.70355028G>A	(Likely) benign	1 lab	9bed52f259
20:47887603 ZNFX1 G>T	20	47887603	47887603	G	T	ZNFX1	c.746C>A	NM_021035.3	NP_066363.1:p.(Ser249Tyr)	NC_000020.10:g.47887603G>T	(Likely) benign	1 lab	9befce21db
9:14797627 FREM1 C>T	9	14797627	14797627	C	T	FREM1	c.3708G>A	NM_144966.5	NP_659403.4:p.(Thr1236=)	NC_000009.11:g.14797627C>T	(Likely) benign	1 lab	9bf26358f9
8:106814740 ZFPM2 A>T	8	106814740	106814740	A	T	ZFPM2	c.2430A>T	NM_012082.4	NP_036214.2:p.(Pro810=)	NC_000008.10:g.106814740A>T	(Likely) benign	1 lab	9bf9addca3
2:109398762 RANBP2 A>G	2	109398762	109398762	A	G	RANBP2	c.8939A>G	NM_006267.4	NP_006258.3:p.(Lys2980Arg)	NC_000002.11:g.109398762A>G	(Likely) benign	1 lab	9bfb327882
18:34273251 FHOD3 G>C	18	34273251	34273251	G	C	FHOD3	c.2101G>C	NM_001281740.3	NP_001268669.1:p.(Asp701His)	NC_000018.9:g.34273251G>C	VUS	1 lab	9c011f23a2
16:31202740 FUS G>A	16	31202740	31202740	G	A	FUS	c.1562G>A	NM_004960.3	NP_004951.1:p.(Arg521His)	NC_000016.9:g.31202740G>A	(Likely) pathogenic	1 lab	9c01b023b5
2:166854624 SCN1A A>T	2	166854624	166854624	A	T	SCN1A	c.4400T>A	NM_001165963.3	NP_001159435.1:p.(Ile1467Asn)	NC_000002.11:g.166854624A>T	(Likely) pathogenic	1 lab	9c027cf597
13:101020840 PCCA T>C	13	101020840	101020840	T	C	PCCA	c.1746+12T>C	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.101020840T>C	(Likely) benign	1 lab	9c02c35056
16:3740991 TRAP1 A>G	16	3740991	3740991	A	G	TRAP1	c.89-5T>C	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3740991A>G	(Likely) benign	1 lab	9c03659170
10:75397555 MYOZ1 C>G	10	75397555	75397555	C	G	MYOZ1	c.199G>C	NM_021245.4	NP_067068.1:p.(Val67Leu)	NC_000010.10:g.75397555C>G	VUS	1 lab	9c069f38a6
10:112838894 ADRA2A G>T	10	112838894	112838894	G	T	ADRA2A	c.1140G>T	NM_000681.4	NP_000672.3:p.(Arg380=)	NC_000010.10:g.112838894G>T	(Likely) benign	1 lab	9c074f561d
22:23915610 IGLL1 A>T	22	23915610	23915610	A	T	IGLL1				NC_000022.10:g.23915610A>T	(Likely) benign	1 lab	9c0c9ebfa2
12:103248929 PAH A>G	12	103248929	103248929	A	G	PAH	c.691T>C	NM_000277.3	NP_000268.1:p.(Ser231Pro)	NC_000012.11:g.103248929A>G	(Likely) pathogenic	1 lab	9c0dd8b405
9:93639846 SYK C>A	9	93639846	93639846	C	A	SYK	c.1182-7C>A	NM_003177.7	NP_003168.2:p.?	NC_000009.11:g.93639846C>A	(Likely) benign	1 lab	9c0f521404
X:67431939 OPHN1 T>G	X	67431939	67431939	T	G	OPHN1	c.702+11A>C	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67431939T>G	(Likely) benign	1 lab	9c1247483c
5:176919688 PDLIM7 G>C	5	176919688	176919688	G	C	PDLIM7	c.97-10C>G	NM_005451.5	NP_005442.2:p.?	NC_000005.9:g.176919688G>C	(Likely) benign	1 lab	9c13114f88
22:51064067 ARSA C>T	22	51064067	51064067	C	T	ARSA	c.1150G>A	NM_000487.6	NP_000478.3:p.(Glu384Lys)	NC_000022.10:g.51064067C>T	(Likely) pathogenic	1 lab	9c175f5202
12:114832646 TBX5 G>A	12	114832646	114832646	G	A	TBX5	c.563C>T	NM_000192.3	NP_000183.2:p.(Ala188Val)	NC_000012.11:g.114832646G>A	VUS	1 lab	9c243587be
1:205180544 DSTYK C>A	1	205180544	205180544	C	A	DSTYK	c.120G>T	NM_015375.3	NP_056190.1:p.(Arg40=)	NC_000001.10:g.205180544C>A	(Likely) benign	1 lab	9c263dc767
5:476642 SLC9A3 A>C	5	476642	476642	A	C	SLC9A3	c.1890+16T>G	NM_004174.4	NP_004165.2:p.?	NC_000005.9:g.476642A>C	(Likely) benign	1 lab	9c292f028e
1:17345346 SDHB G>A	1	17345346	17345346	G	A	SDHB	c.*30C>T	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17345346G>A	(Likely) benign	1 lab	9f2ba9fbbc
5:89979519 ADGRV1 G>A	5	89979519	89979519	G	A	ADGRV1	c.5781G>A	NM_032119.4	NP_115495.3:p.(Thr1927=)	NC_000005.9:g.89979519G>A	(Likely) benign	1 lab	9c2c7da8ac
11:65321285 LTBP3 C>T	11	65321285	65321285	C	T	LTBP3	c.751G>A	NM_001130144.2	NP_001123616.1:p.(Glu251Lys)	NC_000011.9:g.65321285C>T	(Likely) benign	1 lab	9c2ccf5d06
14:23886806 MYH7 C>G	14	23886806	23886806	C	G	MYH7	c.4259G>C	NM_000257.4	NP_000248.2:p.(Arg1420Pro)	NC_000014.8:g.23886806C>G	VUS	1 lab	d43bf0f82c
16:3296429 MEFV G>A	16	3296429	3296429	G	A	MEFV	c.1610+96C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296429G>A	(Likely) benign	1 lab	9c33109944
16:2153688 PKD1 C>T	16	2153688	2153688	C	T	PKD1	c.8370G>A	NM_001009944.2	NP_001009944.2:p.(Pro2790=)	NC_000016.9:g.2153688C>T	(Likely) benign	1 lab	9c335b0c29
9:135776958 TSC1 T>G	9	135776958	135776958	T	G	TSC1	c.2502+18A>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135776958T>G	(Likely) benign	1 lab	9c347bca5c
2:179456214 TTN G>A	2	179456214	179456214	G	A	TTN	c.60238C>T	NM_001267550.1	NP_001254479.1:p.(Leu20080=)	NC_000002.11:g.179456214G>A	(Likely) benign	1 lab	9c367c4af5
17:35478362 ACACA T>C	17	35478362	35478362	T	C	ACACA	c.6078=	NM_198839.3	NP_942136.1:p.(Thr2026=)	NC_000017.10:g.35478362T>C	(Likely) benign	1 lab	d43c7b049f
X:47434568 SYN1 G>A	X	47434568	47434568	G	A	SYN1	c.1264C>T	NM_006950.3	NP_008881.2:p.(Arg422Ter)	NC_000023.10:g.47434568G>A	(Likely) pathogenic	1 lab	9c39c5a7d2
11:101343034 TRPC6 C>T	11	101343034	101343034	C	T	TRPC6	c.2039G>A	NM_004621.6	NP_004612.2:p.(Trp680Ter)	NC_000011.9:g.101343034C>T	(Likely) pathogenic	1 lab	9c3d5a46c7
10:60573612 BICC1 G>A	10	60573612	60573612	G	A	BICC1	c.2399G>A	NM_001080512.3	NP_001073981.1:p.(Arg800Gln)	NC_000010.10:g.60573612G>A	(Likely) benign	1 lab	9c42041921
4:39279671 WDR19 C>CA	4	39279671	39279687	C	CA	WDR19	c.3841-64dup	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39279687dup	(Likely) benign	1 lab	9df9dd68f5
1:158655062 SPTA1 G>A	1	158655062	158655062	G	A	SPTA1	c.100C>T	NM_003126.3	NP_003117.2:p.(Arg34Trp)	NC_000001.10:g.158655062G>A	(Likely) pathogenic	1 lab	9c4825f6e6
2:71839898 DYSF C>A	2	71839898	71839898	C	A	DYSF	c.4346C>A	NM_001130981.2	NP_001124453.1:p.(Pro1449His)	NC_000002.11:g.71839898C>A	(Likely) pathogenic	1 lab	9c489ed9f0
14:67391010 GPHN G>A	14	67391010	67391010	G	A	GPHN	c.828+1G>A	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67391010G>A	VUS	1 lab	d489b6852e
5:147484516 SPINK5 C>T	5	147484516	147484516	C	T	SPINK5	c.1432C>T	NM_001127698.2	NP_001121170.1:p.(Gln478Ter)	NC_000005.9:g.147484516C>T	(Likely) pathogenic	1 lab	9c48e75dae
6:137525477 IFNGR1 C>T	6	137525477	137525477	C	T	IFNGR1	c.538G>A	NM_000416.2	NP_000407.1:p.(Gly180Arg)	NC_000006.11:g.137525477C>T	(Likely) benign	1 lab	9c4aab00ce
1:237758818 RYR2 A>G	1	237758818	237758818	A	G	RYR2	c.4457A>G	NM_001035.3	NP_001026.2:p.(Tyr1486Cys)	NC_000001.10:g.237758818A>G	VUS	1 lab	9c4c2acbd5
19:39217623 ACTN4 G>C	19	39217623	39217623	G	C	ACTN4	c.2217G>C	NM_004924.6	NP_004915.2:p.(Leu739=)	NC_000019.9:g.39217623G>C	(Likely) benign	1 lab	9c4db7c4ac
15:42704105 CAPN3 C>T	15	42704105	42704105	C	T	CAPN3	c.*134C>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42704105C>T	(Likely) benign	1 lab	9c4dfb34a1
10:127462659 MMP21 C>G	10	127462659	127462659	C	G	MMP21	c.438G>C	NM_147191.1	NP_671724.1:p.(Pro146=)	NC_000010.10:g.127462659C>G	(Likely) benign	1 lab	9c52bb954b
12:58200181 AVIL G>A	12	58200181	58200181	G	A	AVIL	c.1633C>T	NM_006576.3	NP_006567.3:p.(Leu545=)	NC_000012.11:g.58200181G>A	(Likely) benign	1 lab	9c53b7818a
6:108243125 SEC63 C>CGGGG	6	108243125	108243126	C	CGGGG	SEC63	c.340-13_340-12insCCCC	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243126insGGGG	(Likely) benign	1 lab	9c5514943b
12:66990785 GRIP1 C>A	12	66990785	66990785	C	A	GRIP1	c.56-78G>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66990785C>A	(Likely) benign	1 lab	9c56ed781d
12:6710222 CHD4 A>G	12	6710222	6710222	A	G	CHD4	c.800-3T>C	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6710222A>G	(Likely) benign	1 lab	d43db8e587
X:12722616 FRMPD4 C>G	X	12722616	12722616	C	G	FRMPD4	c.1197+12C>G	NM_014728.3	NP_055543.2:p.?	NC_000023.10:g.12722616C>G	(Likely) benign	1 lab	d43de095ac
1:156104742 LMNA G>T	1	156104742	156104742	G	T	LMNA				NC_000001.10:g.156104742G>T	VUS	1 lab	9ea22ed911
10:43614996 RET G>C	10	43614996	43614996	G	C	RET	c.2410G>C	NM_020975.4	NP_066124.1:p.(Val804Leu)	NC_000010.10:g.43614996G>C	(Likely) pathogenic	1 lab	9c6632486d
2:152531879 NEB A>G	2	152531879	152531879	A	G	NEB	c.3801T>C	NM_001271208.1	NP_001258137.1:p.(Asp1267=)	NC_000002.11:g.152531879A>G	(Likely) benign	1 lab	9c69dc4eec
10:16870993 CUBN G>A	10	16870993	16870993	G	A	CUBN	c.10575C>T	NM_001081.3	NP_001072.2:p.(Pro3525=)	NC_000010.10:g.16870993G>A	(Likely) benign	1 lab	9c6ad35d4f
8:94768112 TMEM67 T>A	8	94768112	94768112	T	A	TMEM67	c.312+18T>A	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94768112T>A	(Likely) benign	1 lab	9c6b240556
15:63340775 TPM1 A>T	15	63340775	63340775	A	T	TPM1	c.1A>T	NM_001301289.2	NP_001288218.1:p.(Met1?)	NC_000015.9:g.63340775A>T	VUS	1 lab	9c6c73ff06
16:51185123 SALL1 T>C	16	51185123	51185123	T	C	SALL1	c.30A>G	NM_002968.2	NP_002959.2:p.(Gln10=)	NC_000016.9:g.51185123T>C	(Likely) benign	1 lab	9c6c994f0d
13:52518298 ATP7B C>T	13	52518298	52518298	C	T	ATP7B	c.3190G>A	NM_000053.4	NP_000044.2:p.(Glu1064Lys)	NC_000013.10:g.52518298C>T	(Likely) pathogenic	1 lab	9c6cf08a30
X:154089991 F8 A>C	X	154089991	154089991	A	C	F8	c.6723+2T>G	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154089991A>C	(Likely) pathogenic	1 lab	9c6f7cc635
19:17953212 JAK3 G>A	19	17953212	17953212	G	A	JAK3	c.774C>T	NM_000215.3	NP_000206.2:p.(Leu258=)	NC_000019.9:g.17953212G>A	(Likely) benign	1 lab	9c742c0cc2
16:3298811 MEFV G>A	16	3298811	3298811	G	A	MEFV	c.1356+98C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3298811G>A	(Likely) benign	1 lab	9c776cbb9d
12:88525048 CEP290 AT>A	12	88525048	88525062	AT	A	CEP290	c.442-54del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88525062del	(Likely) benign	1 lab	9c7c229256
9:745156 KANK1 C>G	9	745156	745156	C	G	KANK1	c.3997-17C>G	NM_015158.4	NP_055973.2:p.?	NC_000009.11:g.745156C>G	(Likely) benign	1 lab	9c7f72a215
2:227968837 COL4A4 T>A	2	227968837	227968837	T	A	COL4A4	c.736-69A>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227968837T>A	(Likely) benign	1 lab	9c88d0e6da
X:122459994 GRIA3 T>C	X	122459994	122459994	T	C	GRIA3	c.626T>C	NM_000828.4	NP_000819.3:p.(Met209Thr)	NC_000023.10:g.122459994T>C	(Likely) benign	1 lab	9c9527643b
5:40972682 C7 G>A	5	40972682	40972682	G	A	C7	c.2060G>A	NM_000587.2	NP_000578.2:p.(Arg687His)	NC_000005.9:g.40972682G>A	(Likely) benign	1 lab	9c9a67fb59
20:62070976 KCNQ2 C>A	20	62070976	62070976	C	A	KCNQ2	c.902G>T	NM_172107.4	NP_742105.1:p.(Gly301Val)	NC_000020.10:g.62070976C>A	(Likely) pathogenic	1 lab	9c9c591a33
13:52532469 ATP7B C>A	13	52532469	52532469	C	A	ATP7B	c.2333G>T	NM_000053.4	NP_000044.2:p.(Arg778Leu)	NC_000013.10:g.52532469C>A	VUS	1 lab	9ca2e996c9
1:9770635 PIK3CD A>C	1	9770635	9770635	A	C	PIK3CD	c.122A>C	NM_005026.3	NP_005017.3:p.(Asn41Thr)	NC_000001.10:g.9770635A>C	(Likely) benign	1 lab	9ca3c696c8
15:57924654 MYZAP A>G	15	57924654	57924654	A	G	MYZAP	c.701A>G	NM_001018100.5	NP_001018110.1:p.(Asn234Ser)	NC_000015.9:g.57924654A>G	VUS	1 lab	d4405f4f1b
19:39412914 SARS2 G>T	19	39412914	39412914	G	T	SARS2	c.364-7C>A	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39412914G>T	(Likely) benign	1 lab	9cb18c6f85
1:43908515 SZT2 C>G	1	43908515	43908515	C	G	SZT2	c.8006C>G	NM_015284.4	NP_056099.3:p.(Thr2669Ser)	NC_000001.10:g.43908515C>G	(Likely) benign	1 lab	9cb5c02231
19:17954569 JAK3 T>TG	19	17954569	17954575	T	TG	JAK3	c.308+16dup	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17954575dup	(Likely) benign	1 lab	9cb690cfa1
6:32945844 BRD2 TTTC>T	6	32945844	32945852	TTTC	T	BRD2	c.1579-53_1579-51del	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32945850_32945852del	(Likely) benign	1 lab	9cbaed28a7
4:10100729 WDR1 C>T	4	10100729	10100729	C	T	WDR1	c.264G>A	NM_017491.5	NP_059830.1:p.(Thr88=)	NC_000004.11:g.10100729C>T	(Likely) benign	1 lab	9cbbb14cdb
4:79258876 FRAS1 G>A	4	79258876	79258876	G	A	FRAS1	c.2327G>A	NM_025074.7	NP_079350.5:p.(Cys776Tyr)	NC_000004.11:g.79258876G>A	VUS	1 lab	9cbcca3ae1
1:62739919 KANK4 G>A	1	62739919	62739919	G	A	KANK4	c.857C>T	NM_181712.5	NP_859063.3:p.(Pro286Leu)	NC_000001.10:g.62739919G>A	(Likely) benign	1 lab	9cc2bf75c5
19:36486445 SDHAF1 G>C	19	36486445	36486445	G	C	SDHAF1	c.269G>C	NM_001042631.3	NP_001036096.2:p.(Cys90Ser)	NC_000019.9:g.36486445G>C	(Likely) benign	1 lab	d443ff0526
2:189850517 COL3A1 C>T	2	189850517	189850517	C	T	COL3A1	c.447+13C>T	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189850517C>T	(Likely) benign	1 lab	9ccae4c5c3
22:36691115 MYH9 G>A	22	36691115	36691115	G	A	MYH9	c.3493C>T	NM_002473.5	NP_002464.1:p.(Arg1165Cys)	NC_000022.10:g.36691115G>A	(Likely) pathogenic	1 lab	9cd0a35ea7
16:3299573 MEFV G>A	16	3299573	3299573	G	A	MEFV	c.1118C>T	NM_000243.2	NP_000234.1:p.(Pro373Leu)	NC_000016.9:g.3299573G>A	VUS	1 lab	9cd8414c2f
22:36744888 MYH9 C>G	22	36744888	36744888	C	G	MYH9	c.333+61G>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36744888C>G	(Likely) benign	1 lab	9cd85fdd20
1:218610662 TGFB2 C>CT	1	218610662	218610679	C	CT	TGFB2	c.1017-6dup	NM_001135599.3	NP_001129071.1:p.?	NC_000001.10:g.218610679dup	(Likely) benign	1 lab	9cdd9bd29d
2:166852348 SCN1A TA>T	2	166852348	166852350	TA	T	SCN1A	c.4581+174del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166852350del	(Likely) benign	1 lab	9cde36ba8c
X:153762382 G6PD G>A	X	153762382	153762382	G	A	G6PD	c.645-7C>T	NM_001042351.2	NP_001035810.1:p.?	NC_000023.10:g.153762382G>A	(Likely) benign	1 lab	9cdf5bdc8a
8:100832136 VPS13B G>T	8	100832136	100832136	G	T	VPS13B	c.8868-13G>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100832136G>T	(Likely) benign	1 lab	9ce09ed371
14:65259819 SPTB G>A	14	65259819	65259819	G	A	SPTB	c.2562C>T	NM_001024858.3	NP_001020029.1:p.(Phe854=)	NC_000014.8:g.65259819G>A	(Likely) benign	1 lab	9ce152ab97
15:99670575 SYNM C>T	15	99670575	99670575	C	T	SYNM	c.2010C>T	NM_145728.2	NP_663780.2:p.(Tyr670=)	NC_000015.9:g.99670575C>T	(Likely) benign	1 lab	9ce8fde8e0
15:73660488 HCN4 C>G	15	73660488	73660488	C	G	HCN4	c.124G>C	NM_005477.3	NP_005468.1:p.(Asp42His)	NC_000015.9:g.73660488C>G	VUS	1 lab	d44471c7ef
20:30407434 MYLK2 A>G	20	30407434	30407434	A	G	MYLK2	c.51A>G	NM_033118.3	NP_149109.1:p.(Thr17=)	NC_000020.10:g.30407434A>G	VUS	1 lab	9eb72a99d3
2:228119406 COL4A3 G>T	2	228119406	228119406	G	T	COL4A3	c.863G>T	NM_000091.4	NP_000082.2:p.(Gly288Val)	NC_000002.11:g.228119406G>T	(Likely) pathogenic	1 lab	9cee980d99
2:24431957 ITSN2 G>T	2	24431957	24431957	G	T	ITSN2	c.4553+12C>A	NM_001348181.2	NP_001335110.1:p.?	NC_000002.11:g.24431957G>T	(Likely) benign	1 lab	9cef8d749a
16:27709806 KATNIP A>G	16	27709806	27709806	A	G	KATNIP	c.1098A>G	NM_015202.3	NP_056017.3:p.(Pro366=)	NC_000016.9:g.27709806A>G	(Likely) benign	1 lab	9cf123fe76
10:78832849 KCNMA1 C>T	10	78832849	78832849	C	T	KCNMA1	c.1749+6G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78832849C>T	(Likely) benign	1 lab	9cf96b8bbe
2:189917617 COL5A2 C>T	2	189917617	189917617	C	T	COL5A2	c.2661+20G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917617C>T	(Likely) benign	1 lab	9cfc3f607e
16:3293182 MEFV G>C	16	3293182	3293182	G	C	MEFV	c.2305C>G	NM_000243.2	NP_000234.1:p.(Pro769Ala)	NC_000016.9:g.3293182G>C	VUS	1 lab	9cfe79ac37
3:196022901 DYNLT2B G>A	3	196022901	196022901	G	A	DYNLT2B	c.357C>T	NM_152773.5	NP_689986.2:p.(Asn119=)	NC_000003.11:g.196022901G>A	(Likely) benign	1 lab	9d01b187e8
17:8077542 TMEM107 C>T	17	8077542	8077542	C	T	TMEM107	c.420G>A	NM_032354.5	NP_115730.2:p.(Gly140=)	NC_000017.10:g.8077542C>T	(Likely) benign	1 lab	9d02b4d184
1:43903448 SZT2 A>C	1	43903448	43903448	A	C	SZT2	c.6226-14A>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43903448A>C	(Likely) benign	1 lab	9d0833691f
5:90050812 ADGRV1 C>T	5	90050812	90050812	C	T	ADGRV1	c.11390C>T	NM_032119.4	NP_115495.3:p.(Thr3797Ile)	NC_000005.9:g.90050812C>T	(Likely) benign	1 lab	9d083ea453
5:125912806 ALDH7A1 G>A	5	125912806	125912806	G	A	ALDH7A1	c.615C>T	NM_001182.5	NP_001173.2:p.(Asn205=)	NC_000005.9:g.125912806G>A	(Likely) benign	1 lab	9d124fb3e0
3:10109009 FANCD2 A>G	3	10109009	10109009	A	G	FANCD2	c.2494+8A>G	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10109009A>G	(Likely) benign	1 lab	9d1d9a7d3e
1:158064871 KIRREL1 C>T	1	158064871	158064871	C	T	KIRREL1	c.1935C>T	NM_001286349.1	NP_001273278.1:p.(Tyr645=)	NC_000001.10:g.158064871C>T	(Likely) benign	1 lab	9d20be8ffd
5:89909995 ADGRV1 T>A	5	89909995	89909995	T	A	ADGRV1	c.23-657T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89909995T>A	(Likely) benign	1 lab	9d24fa3334
16:56868050 NUP93 G>A	16	56868050	56868050	G	A	NUP93	c.1179G>A	NM_001242795.2	NP_001229724.1:p.(Glu393=)	NC_000016.9:g.56868050G>A	(Likely) benign	1 lab	9d264cd3df
4:2831894 SH3BP2 G>T	4	2831894	2831894	G	T	SH3BP2	c.1325+20G>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2831894G>T	(Likely) benign	1 lab	9d26abfa63
16:31196421 FUS G>A	16	31196421	31196421	G	A	FUS	c.685G>A	NM_004960.3	NP_004951.1:p.(Gly229Ser)	NC_000016.9:g.31196421G>A	VUS	1 lab	9d26e78aa5
4:86916422 ARHGAP24 T>C	4	86916422	86916422	T	C	ARHGAP24	c.1615T>C	NM_001025616.3	NP_001020787.2:p.(Phe539Leu)	NC_000004.11:g.86916422T>C	(Likely) benign	1 lab	9d289000d6
17:40947095 WNK4 A>G	17	40947095	40947095	A	G	WNK4	c.2656A>G	NM_032387.5	NP_115763.2:p.(Thr886Ala)	NC_000017.10:g.40947095A>G	(Likely) benign	1 lab	9d34664838
1:237905590 RYR2 A>T	1	237905590	237905590	A	T	RYR2	c.11092-6A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237905590A>T	(Likely) benign	1 lab	9d36e52565
10:97096645 SORBS1 C>T	10	97096645	97096645	C	T	SORBS1				NC_000010.10:g.97096645C>T	(Likely) benign	1 lab	9d37bfe4b7
16:2167848 PKD1 C>T	16	2167848	2167848	C	T	PKD1	c.1145G>A	NM_001009944.2	NP_001009944.2:p.(Gly382Asp)	NC_000016.9:g.2167848C>T	VUS	1 lab	9d388e8d1d
6:151744739 RMND1 T>A	6	151744739	151744739	T	A	RMND1	c.858A>T	NM_017909.4	NP_060379.2:p.(Glu286Asp)	NC_000006.11:g.151744739T>A	(Likely) benign	1 lab	9d38cdcfb5
16:81965277 PLCG2 C>T	16	81965277	81965277	C	T	PLCG2	c.2739+18C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81965277C>T	(Likely) benign	1 lab	9d474967f1
15:93563463 CHD2 C>T	15	93563463	93563463	C	T	CHD2	c.5128C>T	NM_001271.4	NP_001262.3:p.(Arg1710Trp)	NC_000015.9:g.93563463C>T	(Likely) benign	1 lab	9d47f8c4d9
7:2581338 BRAT1 C>T	7	2581338	2581338	C	T	BRAT1	c.1134+14G>A	NM_152743.4	NP_689956.2:p.?	NC_000007.13:g.2581338C>T	(Likely) benign	1 lab	9d4a9276aa
3:10258605 IRAK2 C>T	3	10258605	10258605	C	T	IRAK2	c.789-13C>T	NM_001570.4	NP_001561.3:p.?	NC_000003.11:g.10258605C>T	(Likely) benign	1 lab	9d516cf59e
6:145948699 EPM2A A>G	6	145948699	145948699	A	G	EPM2A	c.849T>C	NM_001018041.2	NP_001018051.1:p.(Tyr283=)	NC_000006.11:g.145948699A>G	(Likely) benign	1 lab	9d5560acc1
1:5937362 NPHP4 C>T	1	5937362	5937362	C	T	NPHP4	c.2612-4G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5937362C>T	(Likely) benign	1 lab	9d5d555b8f
15:77327859 PSTPIP1 C>T	15	77327859	77327859	C	T	PSTPIP1	c.940C>T	NM_003978.3	NP_003969.2:p.(Leu314=)	NC_000015.9:g.77327859C>T	(Likely) benign	1 lab	9d5dc4e35e
17:48155412 ITGA3 G>A	17	48155412	48155412	G	A	ITGA3	c.2142G>A	NM_002204.4	NP_002195.1:p.(Met714Ile)	NC_000017.10:g.48155412G>A	VUS	1 lab	9d5e8fd730
14:74428548 COQ6 C>A	14	74428548	74428548	C	A	COQ6	c.1319C>A	NM_182476.3	NP_872282.1:p.(Pro440Gln)	NC_000014.8:g.74428548C>A	(Likely) benign	1 lab	9d618d959c
8:133146783 KCNQ3 G>A	8	133146783	133146783	G	A	KCNQ3	c.1701-148C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146783G>A	(Likely) benign	1 lab	9d6385c2a9
14:105172469 INF2 G>A	14	105172469	105172469	G	A	INF2	c.799G>A	NM_022489.3	NP_071934.3:p.(Asp267Asn)	NC_000014.8:g.105172469G>A	(Likely) benign	1 lab	9d663ba080
X:107824012 COL4A5 ATG>A	X	107824012	107824026	ATG	A	COL4A5	c.891+57_891+58del	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107824025_107824026del	(Likely) benign	1 lab	9d66773a67
13:39452538 FREM2 T>TGGCC	13	39452538	39452541	T	TGGCC	FREM2	c.8859+82_8859+83insCCGG	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452540_39452541insCCGG	(Likely) benign	1 lab	9d67e7ccee
11:65314398 LTBP3 G>C	11	65314398	65314398	G	C	LTBP3	c.2108-7C>G	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65314398G>C	(Likely) benign	1 lab	9d6aaec8a4
5:137221914 MYOT A>G	5	137221914	137221914	A	G	MYOT	c.1190+12A>G	NM_006790.2	NP_006781.1:p.?	NC_000005.9:g.137221914A>G	(Likely) benign	1 lab	9d707990e3
1:228496078 OBSCN G>A	1	228496078	228496078	G	A	OBSCN	c.15604G>A	NM_001271223.2	NP_001258152.2:p.(Val5202Ile)	NC_000001.10:g.228496078G>A	(Likely) benign	1 lab	9d7955d7a9
14:65260469 SPTB G>A	14	65260469	65260469	G	A	SPTB	c.1912C>T	NM_001355436.2	NP_001342365.1:p.(Arg638Ter)	NC_000014.8:g.65260469G>A	(Likely) pathogenic	1 lab	9d79cb3b4d
12:14947681 WBP11 A>C	12	14947681	14947681	A	C	WBP11	c.522-11T>G	NM_016312.3	NP_057396.1:p.?	NC_000012.11:g.14947681A>C	(Likely) benign	1 lab	9d7b22d2bd
8:77745635 ZFHX4 G>A	8	77745635	77745635	G	A	ZFHX4	c.3387G>A	NM_024721.5	NP_078997.4:p.(Ser1129=)	NC_000008.10:g.77745635G>A	(Likely) benign	1 lab	d4460e5cb8
2:166898844 SCN1A G>A	2	166898844	166898844	G	A	SCN1A	c.2134C>T	NM_001165963.4	NP_001159435.1:p.(Arg712Ter)	NC_000002.11:g.166898844G>A	(Likely) pathogenic	1 lab	d44b186845
10:21104609 NEBL A>C	10	21104609	21104609	A	C	NEBL	c.2186T>G	NM_006393.2	NP_006384.1:p.(Leu729Ter)	NC_000010.10:g.21104609A>C	VUS	1 lab	9d861c5962
X:107938584 COL4A5 G>A	X	107938584	107938584	G	A	COL4A5	c.4891G>A	NM_000495.5	NP_000486.1:p.(Glu1631Lys)	NC_000023.10:g.107938584G>A	VUS	1 lab	9d8a003bcb
4:79340361 FRAS1 C>T	4	79340361	79340361	C	T	FRAS1	c.4540+144C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79340361C>T	(Likely) benign	1 lab	9d8d8a776d
3:53766071 CACNA1D A>G	3	53766071	53766071	A	G	CACNA1D	c.2495A>G	NM_000720.4	NP_000711.1:p.(Asp832Gly)	NC_000003.11:g.53766071A>G	VUS	1 lab	9d9199343c
1:149759908 FCGR1A T>A	1	149759908	149759908	T	A	FCGR1A	c.308-14T>A	NM_000566.3	NP_000557.1:p.?	NC_000001.10:g.149759908T>A	(Likely) benign	1 lab	9d9541de8a
4:114275672 ANK2 T>C	4	114275672	114275672	T	C	ANK2	c.5898T>C	NM_001148.4	NP_001139.3:p.(Ser1966=)	NC_000004.11:g.114275672T>C	(Likely) benign	1 lab	9d9866b5e3
16:3297198 MEFV C>A	16	3297198	3297198	C	A	MEFV	c.1405G>T	NM_000243.2	NP_000234.1:p.(Val469Leu)	NC_000016.9:g.3297198C>A	VUS	1 lab	9d98d1d1e1
13:39271926 FREM2 T>C	13	39271926	39271926	T	C	FREM2	c.5263+2T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39271926T>C	(Likely) pathogenic	1 lab	9d9adc318f
22:32188180 DEPDC5 A>G	22	32188180	32188180	A	G	DEPDC5	c.694+92A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188180A>G	(Likely) benign	1 lab	9d9ca43291
4:786383 CPLX1 G>A	4	786383	786383	G	A	CPLX1	c.45C>T	NM_006651.4	NP_006642.1:p.(Asp15=)	NC_000004.11:g.786383G>A	(Likely) benign	1 lab	9d9f342556
3:47043730 NBEAL2 C>T	3	47043730	47043730	C	T	NBEAL2	c.5103C>T	NM_015175.2	NP_055990.1:p.(Phe1701=)	NC_000003.11:g.47043730C>T	(Likely) benign	1 lab	9da029e73e
1:247608058 NLRP3 C>T	1	247608058	247608058	C	T	NLRP3	c.2946C>T	NM_004895.5	NP_004886.3:p.(Gly982=)	NC_000001.10:g.247608058C>T	(Likely) benign	1 lab	d44dbc0187
16:30081162 ALDOA C>T	16	30081162	30081162	C	T	ALDOA				NC_000016.9:g.30081162C>T	(Likely) benign	1 lab	9da6e95d70
3:9979753 CRELD1 C>T	3	9979753	9979753	C	T	CRELD1	c.423C>T	NM_015513.6	NP_056328.3:p.(Leu141=)	NC_000003.11:g.9979753C>T	(Likely) benign	1 lab	9da7b3e1fa
5:90012379 ADGRV1 G>A	5	90012379	90012379	G	A	ADGRV1	c.9280G>A	NM_032119.4	NP_115495.3:p.(Val3094Ile)	NC_000005.9:g.90012379G>A	(Likely) benign	1 lab	9daab0d1ce
5:169141139 DOCK2 T>G	5	169141139	169141139	T	G	DOCK2	c.1767T>G	NM_004946.3	NP_004937.1:p.(Val589=)	NC_000005.9:g.169141139T>G	(Likely) benign	1 lab	9dad5d6181
10:95518773 LGI1 A>C	10	95518773	95518773	A	C	LGI1	c.287+185A>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95518773A>C	(Likely) benign	1 lab	9db108a3f5
4:120422407 PDE5A T>G	4	120422407	120422407	T	G	PDE5A	c.2408A>C	NM_001083.4	NP_001074.2:p.(Asp803Ala)	NC_000004.11:g.120422407T>G	(Likely) benign	1 lab	9db1ee9b8f
2:169850403 ABCB11 G>C	2	169850403	169850403	G	C	ABCB11	c.612-11C>G	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169850403G>C	VUS	1 lab	9db4035061
13:52509166 ATP7B C>G	13	52509166	52509166	C	G	ATP7B	c.4125-1G>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52509166C>G	(Likely) pathogenic	1 lab	9db447e428
18:47511137 MYO5B C>A	18	47511137	47511137	C	A	MYO5B	c.897G>T	NM_001080467.3	NP_001073936.1:p.(Val299=)	NC_000018.9:g.47511137C>A	(Likely) benign	1 lab	9db512a8e0
15:91354481 BLM C>G	15	91354481	91354481	C	G	BLM	c.3921C>G	NM_000057.2	NP_000048.1:p.(Pro1307=)	NC_000015.9:g.91354481C>G	(Likely) benign	1 lab	9db54bf23c
1:236908048 ACTN2 C>T	1	236908048	236908048	C	T	ACTN2	c.1378C>T	NM_001103.3	NP_001094.1:p.(Gln460Ter)	NC_000001.10:g.236908048C>T	VUS	1 lab	9dbd169dd3
16:3293374 MEFV G>A	16	3293374	3293374	G	A	MEFV	c.2113C>T	NM_000243.2	NP_000234.1:p.(Pro705Ser)	NC_000016.9:g.3293374G>A	VUS	1 lab	9dc1b99ad6
10:69902847 MYPN G>A	10	69902847	69902847	G	A	MYPN	c.1053G>A	NM_032578.3	NP_115967.2:p.(Ser351=)	NC_000010.10:g.69902847G>A	(Likely) benign	1 lab	9dc56f2dae
4:79417823 FRAS1 T>A	4	79417823	79417823	T	A	FRAS1	c.8959-136T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79417823T>A	(Likely) benign	1 lab	9dc6da6c3f
5:150036304 SYNPO ACCGCCC>A	5	150036304	150036338	ACCGCCC	A	SYNPO	c.2396_2401del	NM_007286.6	NP_009217.3:p.(Pro799_Pro800del)	NC_000005.9:g.150036333_150036338del	(Likely) benign	1 lab	9dc786013e
X:31494096 DMD C>T	X	31494096	31494096	C	T	DMD	c.8937+2127G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31494096C>T	VUS	1 lab	d4574755c6
5:90025687 ADGRV1 AT>A	5	90025687	90025700	AT	A	ADGRV1	c.10549+119del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90025700del	(Likely) benign	1 lab	9dd1809a3a
17:39925902 JUP G>A	17	39925902	39925902	G	A	JUP	c.236C>T	NM_002230.2	NP_002221.1:p.(Thr79Ile)	NC_000017.10:g.39925902G>A	VUS	1 lab	9dd27dc692
2:198362125 HSPD1 A>G	2	198362125	198362125	A	G	HSPD1	c.175-9T>C	NM_002156.5	NP_002147.2:p.?	NC_000002.11:g.198362125A>G	(Likely) benign	1 lab	9dd37fe399
12:69096504 NUP107 A>G	12	69096504	69096504	A	G	NUP107	c.681-12A>G	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69096504A>G	(Likely) benign	1 lab	9dd6e654d8
8:72181995 EYA1 AG>A	8	72181995	72181997	AG	A	EYA1	c.1029del	NM_000503.6	NP_000494.2:p.(Tyr344ThrfsTer22)	NC_000008.10:g.72181997del	(Likely) pathogenic	1 lab	9dd92c64ad
16:2158806 PKD1 C>T	16	2158806	2158806	C	T	PKD1	c.6362G>A	NM_001009944.2	NP_001009944.2:p.(Arg2121His)	NC_000016.9:g.2158806C>T	(Likely) benign	1 lab	9dd9c66957
4:107157622 TBCK C>T	4	107157622	107157622	C	T	TBCK	c.759G>A	NM_001290768.2	NP_001277697.2:p.(Thr253=)	NC_000004.11:g.107157622C>T	(Likely) benign	1 lab	9ddb5db5a5
10:16982155 CUBN C>A	10	16982155	16982155	C	A	CUBN	c.5424G>T	NM_001081.3	NP_001072.2:p.(Val1808=)	NC_000010.10:g.16982155C>A	(Likely) benign	1 lab	9ddd357e47
15:73660340 HCN4 C>T	15	73660340	73660340	C	T	HCN4	c.272G>A	NM_005477.3	NP_005468.1:p.(Gly91Asp)	NC_000015.9:g.73660340C>T	VUS	1 lab	9de037db59
13:32951064 BRCA2 A>T	13	32951064	32951064	A	T	BRCA2	c.8754+136A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951064A>T	(Likely) benign	1 lab	9de2eee6ac
19:11285219 KANK2 G>A	19	11285219	11285219	G	A	KANK2	c.1998C>T	NM_001136191.2	NP_001129663.1:p.(Asn666=)	NC_000019.9:g.11285219G>A	(Likely) benign	1 lab	9de5081e6a
16:30980996 SETD1A C>CA	16	30980996	30980997	C	CA	SETD1A	c.3003dup	NM_014712.3	NP_055527.1:p.(Glu1002ArgfsTer21)	NC_000016.9:g.30980997dup	(Likely) pathogenic	1 lab	d45890f01c
16:20360421 UMOD C>T	16	20360421	20360421	C	T	UMOD	c.202G>A	NM_003361.3	NP_003352.2:p.(Glu68Lys)	NC_000016.9:g.20360421C>T	(Likely) pathogenic	1 lab	9de7309a5c
11:61165731 TMEM216 C>CA	11	61165731	61165732	C	CA	TMEM216	c.432-2_432-1insA	NM_001173991.3	NP_001167462.1:p.?	NC_000011.9:g.61165731_61165732insA	(Likely) benign	1 lab	d458bb46bf
3:123385972 MYLK G>A	3	123385972	123385972	G	A	MYLK	c.3703+12C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123385972G>A	(Likely) benign	1 lab	9ded032e21
17:57093117 TRIM37 G>A	17	57093117	57093117	G	A	TRIM37	c.2430C>T	NM_015294.6	NP_056109.1:p.(Pro810=)	NC_000017.10:g.57093117G>A	(Likely) benign	1 lab	9ded61fa4a
5:37195976 CPLANE1 A>T	5	37195976	37195976	A	T	CPLANE1	c.3795T>A	NM_023073.3	NP_075561.3:p.(Val1265=)	NC_000005.9:g.37195976A>T	(Likely) benign	1 lab	9dee359d0e
3:128211729 GATA2 G>A	3	128211729	128211729	G	A	GATA2	c.-46+13C>T	NM_032638.4	NP_116027.2:p.?	NC_000003.11:g.128211729G>A	(Likely) benign	1 lab	9df7cbcf67
4:25146722 SEPSECS G>A	4	25146722	25146722	G	A	SEPSECS	c.838C>T	NM_016955.4	NP_058651.3:p.(Gln280Ter)	NC_000004.11:g.25146722G>A	(Likely) pathogenic	1 lab	9dfcb529ab
17:7127707 ACADVL G>A	17	7127707	7127707	G	A	ACADVL	c.1600G>A	NM_000018.4	NP_000009.1:p.(Glu534Lys)	NC_000017.10:g.7127707G>A	(Likely) benign	1 lab	9dfeb07ac8
17:39919474 JUP A>G	17	39919474	39919474	A	G	JUP	c.1258T>C	NM_002230.2	NP_002221.1:p.(Cys420Arg)	NC_000017.10:g.39919474A>G	VUS	1 lab	9e02bab6c5
16:1259285 CACNA1H C>T	16	1259285	1259285	C	T	CACNA1H	c.3617C>T	NM_021098.3	NP_066921.2:p.(Pro1206Leu)	NC_000016.9:g.1259285C>T	(Likely) benign	1 lab	9e0571b199
14:77919728 VIPAS39 C>T	14	77919728	77919728	C	T	VIPAS39	c.110G>A	NM_022067.4	NP_071350.2:p.(Arg37Gln)	NC_000014.8:g.77919728C>T	(Likely) benign	1 lab	9e0e03f98b
22:32156521 DEPDC5 C>T	22	32156521	32156521	C	T	DEPDC5	c.147-121C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32156521C>T	(Likely) benign	1 lab	9e118dd083
12:6442946 TNFRSF1A TTCTGAAGCGGTGAAGGAGCCGCTC>T	12	6442946	6442972	TTCTGAAGCGGTGAAGGAGCCGCTC	T	TNFRSF1A	c.255_278del	NM_001065.4	NP_001056.1:p.(Ser86_Glu93del)	NC_000012.11:g.6442949_6442972del	(Likely) pathogenic	1 lab	9e19b92c8a
9:446570 DOCK8 C>T	9	446570	446570	C	T	DOCK8	c.5781C>T	NM_203447.3	NP_982272.2:p.(Tyr1927=)	NC_000009.11:g.446570C>T	(Likely) benign	1 lab	9e1a6e2831
8:48852162 PRKDC C>T	8	48852162	48852162	C	T	PRKDC	c.1062G>A	NM_006904.6	NP_008835.5:p.(Ser354=)	NC_000008.10:g.48852162C>T	(Likely) benign	1 lab	9e1bd32b33
6:7580114 DSP G>A	6	7580114	7580114	G	A	DSP	c.3691G>A	NM_004415.2	NP_004406.2:p.(Asp1231Asn)	NC_000006.11:g.7580114G>A	VUS	1 lab	9e1c360658
9:140127725 SLC34A3 C>T	9	140127725	140127725	C	T	SLC34A3	c.625C>T	NM_080877.2	NP_543153.1:p.(Leu209=)	NC_000009.11:g.140127725C>T	(Likely) benign	1 lab	9e1eb230b1
5:148411369 SH3TC2 C>T	5	148411369	148411369	C	T	SH3TC2	c.1002-119G>A	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148411369C>T	(Likely) benign	1 lab	9e1f158d97
17:16842946 TNFRSF13B G>A	17	16842946	16842946	G	A	TNFRSF13B	c.797C>T	NM_012452.2	NP_036584.1:p.(Thr266Ile)	NC_000017.10:g.16842946G>A	(Likely) benign	1 lab	9e1ff6c557
4:88580606 DMP1 C>T	4	88580606	88580606	C	T	DMP1	c.159C>T	NM_004407.4	NP_004398.1:p.(Gly53=)	NC_000004.11:g.88580606C>T	(Likely) benign	1 lab	9e20fd65d1
17:45822470 TBX21 G>A	17	45822470	45822470	G	A	TBX21	c.1346G>A	NM_013351.2	NP_037483.1:p.(Arg449His)	NC_000017.10:g.45822470G>A	(Likely) benign	1 lab	9e23e594e2
13:52542478 ATP7B G>A	13	52542478	52542478	G	A	ATP7B	c.1707+102C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542478G>A	(Likely) benign	1 lab	9e278381eb
14:77901748 VIPAS39 T>C	14	77901748	77901748	T	C	VIPAS39	c.913-12A>G	NM_001193314.2	NP_001180243.1:p.?	NC_000014.8:g.77901748T>C	(Likely) benign	1 lab	9e28f5a30f
20:62065193 KCNQ2 A>G	20	62065193	62065193	A	G	KCNQ2	c.1087T>C	NM_172107.4	NP_742105.1:p.(Tyr363His)	NC_000020.10:g.62065193A>G	(Likely) pathogenic	1 lab	9e2d914341
3:77599959 ROBO2 G>A	3	77599959	77599959	G	A	ROBO2	c.1060-10G>A	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77599959G>A	(Likely) benign	1 lab	9e2f059dd2
2:217329432 SMARCAL1 C>CA	2	217329432	217329446	C	CA	SMARCAL1	c.2141+56dup	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217329446dup	(Likely) benign	1 lab	9e37b4a05e
14:65263300 SPTB C>T	14	65263300	65263300	C	T	SPTB	c.1316G>A	NM_001024858.3	NP_001020029.1:p.(Ser439Asn)	NC_000014.8:g.65263300C>T	(Likely) benign	1 lab	9e39bc244c
5:45462149 HCN1 T>G	5	45462149	45462149	T	G	HCN1	c.850-40A>C	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45462149T>G	(Likely) benign	1 lab	9e3c1f89ca
2:87016824 CD8A G>A	2	87016824	87016824	G	A	CD8A	c.453C>T	NM_001768.6	NP_001759.3:p.(Thr151=)	NC_000002.11:g.87016824G>A	(Likely) benign	1 lab	9e45f86271
17:45376914 ITGB3 A>G	17	45376914	45376914	A	G	ITGB3	c.1913+18A>G	NM_000212.2	NP_000203.2:p.?	NC_000017.10:g.45376914A>G	(Likely) benign	1 lab	9e4b643926
1:247607847 NLRP3 CT>C	1	247607847	247607858	CT	C	NLRP3	c.2835-95del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247607858del	(Likely) benign	1 lab	9e4ebde836
7:107603431 LAMB1 A>C	7	107603431	107603431	A	C	LAMB1	c.1776T>G	NM_002291.3	NP_002282.2:p.(Pro592=)	NC_000007.13:g.107603431A>C	(Likely) benign	1 lab	d459b81d95
8:106815496 ZFPM2 C>A	8	106815496	106815496	C	A	ZFPM2	c.3186C>A	NM_012082.4	NP_036214.2:p.(Asn1062Lys)	NC_000008.10:g.106815496C>A	VUS	1 lab	9e5006628c
13:32660137 FRY T>G	13	32660137	32660137	T	G	FRY	c.270+6967T>G	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32660137T>G	(Likely) benign	1 lab	d462512d33
7:35242100 TBX20 G>A	7	35242100	35242100	G	A	TBX20	c.1286C>T	NM_001077653.2	NP_001071121.1:p.(Pro429Leu)	NC_000007.13:g.35242100G>A	VUS	1 lab	9e5710e505
2:220283567 DES T>G	2	220283567	220283567	T	G	DES	c.383T>G	NM_001927.3	NP_001918.3:p.(Phe128Cys)	NC_000002.11:g.220283567T>G	VUS	1 lab	9e5ff5406b
X:13769595 OFD1 A>G	X	13769595	13769595	A	G	OFD1	c.1055+108A>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13769595A>G	(Likely) benign	1 lab	9e607583bd
12:1017830 WNK1 G>A	12	1017830	1017830	G	A	WNK1	c.7801G>A	NM_001184985.1	NP_001171914.1:p.(Gly2601Ser)	NC_000012.11:g.1017830G>A	(Likely) benign	1 lab	9e61a3a0b5
17:73840243 UNC13D G>A	17	73840243	73840243	G	A	UNC13D	c.117+59C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73840243G>A	(Likely) benign	1 lab	9e67b97c74
16:3304346 MEFV C>T	16	3304346	3304346	C	T	MEFV	c.722G>A	NM_000243.2	NP_000234.1:p.(Arg241Lys)	NC_000016.9:g.3304346C>T	VUS	1 lab	a28b1a8c4c
17:17697211 RAI1 C>T	17	17697211	17697211	C	T	RAI1	c.949C>T	NM_030665.4	NP_109590.3:p.(Gln317Ter)	NC_000017.10:g.17697211C>T	(Likely) pathogenic	1 lab	9e6816ac0d
17:41215538 BRCA1 G>C	17	41215538	41215538	G	C	BRCA1	c.5153-148C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215538G>C	(Likely) benign	1 lab	9e698050e4
19:17899072 FCHO1 CTCACAGCTG>C	19	17899072	17899081	CTCACAGCTG	C	FCHO1	c.2648-20_2648-12del	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17899073_17899081del	(Likely) benign	1 lab	9e6edd8ce1
11:101353852 TRPC6 G>A	11	101353852	101353852	G	A	TRPC6	c.1338C>T	NM_004621.6	NP_004612.2:p.(His446=)	NC_000011.9:g.101353852G>A	(Likely) benign	1 lab	9e7178d663
5:37185189 CPLANE1 GAA>G	5	37185189	37185193	GAA	G	CPLANE1	c.4190-10_4190-9del	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37185192_37185193del	(Likely) benign	1 lab	9e71b99a81
6:32946577 BRD2 T>TGG	6	32946577	32946582	T	TGG	BRD2	c.1842-286_1842-285dup	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946581_32946582dup	(Likely) benign	1 lab	9e753ccb3d
1:247588066 NLRP3 G>C	1	247588066	247588066	G	C	NLRP3	c.1315G>C	NM_001243133.2	NP_001230062.1:p.(Ala439Pro)	NC_000001.10:g.247588066G>C	(Likely) pathogenic	1 lab	9e777670db
4:187519146 FAT1 T>C	4	187519146	187519146	T	C	FAT1	c.12237A>G	NM_005245.4	NP_005236.2:p.(Arg4079=)	NC_000004.11:g.187519146T>C	(Likely) benign	1 lab	9e798bd731
7:131189251 PODXL TC>T	7	131189251	131189253	TC	T	PODXL	c.1495del	NM_001018111.3	NP_001018121.1:p.(Glu499SerfsTer17)	NC_000007.13:g.131189253del	(Likely) pathogenic	1 lab	9e79b85bb5
3:49457630 AMT CAG>C	3	49457630	49457634	CAG	C	AMT	c.471+12_471+13del	NM_000481.4	NP_000472.2:p.?	NC_000003.11:g.49457633_49457634del	(Likely) benign	1 lab	9e86f163cb
X:153649015 TAFAZZIN G>A	X	153649015	153649015	G	A	TAFAZZIN	c.718G>A	NM_000116.5	NP_000107.1:p.(Gly240Arg)	NC_000023.10:g.153649015G>A	(Likely) pathogenic	1 lab	9e89f31221
1:16383112 CLCNKB G>A	1	16383112	16383112	G	A	CLCNKB	c.2016+109G>A	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16383112G>A	(Likely) benign	1 lab	9e8b81f962
6:31910998 C2 A>G	6	31910998	31910998	A	G	C2	c.1361-4A>G	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31910998A>G	(Likely) benign	1 lab	9e8c1afcd5
6:110113714 FIG4 T>G	6	110113714	110113714	T	G	FIG4	c.2377-71T>G	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110113714T>G	(Likely) benign	1 lab	9e8e1676cf
20:60889993 LAMA5 C>T	20	60889993	60889993	C	T	LAMA5	c.8058G>A	NM_005560.4	NP_005551.3:p.(Leu2686=)	NC_000020.10:g.60889993C>T	(Likely) benign	1 lab	9e9627ebec
X:128674793 OCRL C>T	X	128674793	128674793	C	T	OCRL	c.112C>T	NM_000276.4	NP_000267.2:p.(Gln38Ter)	NC_000023.10:g.128674793C>T	(Likely) pathogenic	1 lab	9e9a06ef66
22:37531375 IL2RB C>T	22	37531375	37531375	C	T	IL2RB	c.811G>A	NM_000878.5	NP_000869.1:p.(Gly271Arg)	NC_000022.10:g.37531375C>T	(Likely) benign	1 lab	9e9c858a79
2:179638328 TTN G>A	2	179638328	179638328	G	A	TTN	c.7317C>T	NM_133432.3	NP_597676.3:p.(Ile2439=)	NC_000002.11:g.179638328G>A	(Likely) benign	1 lab	9ea030cf59
10:95848924 PLCE1 T>C	10	95848924	95848924	T	C	PLCE1	c.73T>C	NM_001165979.2	NP_001159451.1:p.(Phe25Leu)	NC_000010.10:g.95848924T>C	(Likely) benign	1 lab	9ea0dc61ac
14:69346793 ACTN1 G>A	14	69346793	69346793	G	A	ACTN1	c.2166C>T	NM_001130004.1	NP_001123476.1:p.(Thr722=)	NC_000014.8:g.69346793G>A	(Likely) benign	1 lab	9ea11b9cb6
10:78704741 KCNMA1 G>GA	10	78704741	78704750	G	GA	KCNMA1	c.2557-19dup	NM_001322830.2	NP_001309759.1:p.?	NC_000010.10:g.78704750dup	(Likely) benign	1 lab	9ea43c34a5
3:148458807 AGTR1 G>A	3	148458807	148458807	G	A	AGTR1	c.90G>A	NM_031850.3	NP_114038.4:p.(Ser30=)	NC_000003.11:g.148458807G>A	(Likely) benign	1 lab	9ea684b2e5
16:50733370 NOD2 T>G	16	50733370	50733370	T	G	NOD2	c.74-29T>G	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50733370T>G	(Likely) benign	1 lab	a448689a83
1:62740626 KANK4 G>A	1	62740626	62740626	G	A	KANK4	c.150C>T	NM_181712.5	NP_859063.3:p.(Asn50=)	NC_000001.10:g.62740626G>A	(Likely) benign	1 lab	9ea83cf740
19:54410114 PRKCG A>G	19	54410114	54410114	A	G	PRKCG	c.2059A>G	NM_002739.3	NP_002730.1:p.(Ser687Gly)	NC_000019.9:g.54410114A>G	(Likely) benign	1 lab	9ea84e9bc5
1:247588534 NLRP3 A>G	1	247588534	247588534	A	G	NLRP3	c.1783A>G	NM_001243133.2	NP_001230062.1:p.(Ser595Gly)	NC_000001.10:g.247588534A>G	(Likely) pathogenic	1 lab	9ea9807ceb
8:41580676 ANK1 C>T	8	41580676	41580676	C	T	ANK1	c.975G>A	NM_001142446.2	NP_001135918.1:p.(Leu325=)	NC_000008.10:g.41580676C>T	(Likely) benign	1 lab	9ea9e999de
5:121411170 LOX C>T	5	121411170	121411170	C	T	LOX	c.807G>A	NM_002317.7	NP_002308.2:p.(Val269=)	NC_000005.9:g.121411170C>T	(Likely) benign	1 lab	9eac1f0706
8:48751816 PRKDC GAA>G	8	48751816	48751820	GAA	G	PRKDC	c.7455-11_7455-10del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48751819_48751820del	(Likely) benign	1 lab	9eacb29627
11:108115602 ATM AGT>A	11	108115602	108115609	AGT	A	ATM	c.756_757del	NM_000051.4	NP_000042.3:p.(Cys252Ter)	NC_000011.9:g.108115608_108115609del	(Likely) pathogenic	1 lab	9eae06d2fc
9:130586726 ENG C>T	9	130586726	130586726	C	T	ENG	c.992-1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130586726C>T	VUS	1 lab	9eb4454aeb
20:60894792 LAMA5 G>T	20	60894792	60894792	G	T	LAMA5	c.6819C>A	NM_005560.4	NP_005551.3:p.(Gly2273=)	NC_000020.10:g.60894792G>T	(Likely) benign	1 lab	9eb7370f60
18:47511163 MYO5B C>A	18	47511163	47511163	C	A	MYO5B	c.871G>T	NM_001080467.3	NP_001073936.1:p.(Gly291Ter)	NC_000018.9:g.47511163C>A	(Likely) pathogenic	1 lab	9eb9c95749
4:187584660 FAT1 T>G	4	187584660	187584660	T	G	FAT1	c.3373A>C	NM_005245.4	NP_005236.2:p.(Ile1125Leu)	NC_000004.11:g.187584660T>G	(Likely) benign	1 lab	9eba9b21a2
5:136973096 KLHL3 G>A	5	136973096	136973096	G	A	KLHL3	c.1220-12C>T	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.136973096G>A	(Likely) benign	1 lab	9ebec50c98
5:169081508 DOCK2 G>A	5	169081508	169081508	G	A	DOCK2	c.127+18G>A	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169081508G>A	(Likely) benign	1 lab	9ebf90b137
12:116445450 MED13L C>CAAAAAAAAA	12	116445450	116445470	C	CAAAAAAAAA	MED13L	c.2013-18_2013-10dup	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445462_116445470dup	(Likely) benign	1 lab	9ebfdcf35d
5:1295016 TERT C>A	5	1295016	1295016	C	A	TERT	c.89G>T	NM_198253.2	NP_937983.2:p.(Arg30Leu)	NC_000005.9:g.1295016C>A	VUS	1 lab	9ec2f83bc8
2:166245963 SCN2A T>A	2	166245963	166245963	T	A	SCN2A	c.5647T>A	NM_021007.3	NP_066287.2:p.(Phe1883Ile)	NC_000002.11:g.166245963T>A	VUS	1 lab	9ec5fab589
11:68080198 LRP5 C>A	11	68080198	68080198	C	A	LRP5	c.16C>A	NM_002335.4	NP_002326.2:p.(Pro6Thr)	NC_000011.9:g.68080198C>A	(Likely) benign	1 lab	9ec9d487a1
3:130718472 ATP2C1 G>A	3	130718472	130718472	G	A	ATP2C1	c.2598G>A	NM_014382.5	NP_055197.2:p.(Lys866=)	NC_000003.11:g.130718472G>A	(Likely) benign	1 lab	d46da357db
2:220313721 SPEG C>A	2	220313721	220313721	C	A	SPEG	c.1841C>A	NM_005876.5	NP_005867.3:p.(Pro614His)	NC_000002.11:g.220313721C>A	(Likely) benign	1 lab	9ecd19c722
11:2868995 KCNQ1 A>G	11	2868995	2868995	A	G	KCNQ1	c.1795-2A>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2868995A>G	VUS	1 lab	9eddd769d1
10:75802922 VCL G>A	10	75802922	75802922	G	A	VCL	c.239+11G>A	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75802922G>A	(Likely) benign	1 lab	9edf283ee8
6:152631119 SYNE1 T>C	6	152631119	152631119	T	C	SYNE1	c.16840A>G	NM_033071.4	NP_149062.2:p.(Lys5614Glu)	NC_000006.11:g.152631119T>C	VUS	1 lab	d46e902dc0
3:154861234 MME C>T	3	154861234	154861234	C	T	MME	c.1191C>T	NM_007289.4	NP_009220.2:p.(Ala397=)	NC_000003.11:g.154861234C>T	(Likely) benign	1 lab	9ee89eb8ea
5:1278786 TERT A>G	5	1278786	1278786	A	G	TERT	c.2256T>C	NM_198253.2	NP_937983.2:p.(His752=)	NC_000005.9:g.1278786A>G	(Likely) benign	1 lab	9eea6a89f5
4:6303785 WFS1 T>C	4	6303785	6303785	T	C	WFS1	c.2263T>C	NM_006005.3	NP_005996.2:p.(Cys755Arg)	NC_000004.11:g.6303785T>C	VUS	1 lab	da1e3fbd5c
1:78392196 NEXN G>A	1	78392196	78392196	G	A	NEXN	c.587G>A	NM_144573.3	NP_653174.3:p.(Arg196His)	NC_000001.10:g.78392196G>A	(Likely) benign	1 lab	9eeb30540b
6:32029295 TNXB A>G	6	32029295	32029295	A	G	TNXB	c.7371T>C	NM_019105.8	NP_061978.6:p.(Val2457=)	NC_000006.11:g.32029295A>G	(Likely) benign	1 lab	9eee8e7aa4
X:128699855 OCRL G>A	X	128699855	128699855	G	A	OCRL	c.1351G>A	NM_000276.4	NP_000267.2:p.(Asp451Asn)	NC_000023.10:g.128699855G>A	VUS	1 lab	9ef246cd89
1:237777805 RYR2 C>A	1	237777805	237777805	C	A	RYR2	c.5377C>A	NM_001035.3	NP_001026.2:p.(Gln1793Lys)	NC_000001.10:g.237777805C>A	VUS	1 lab	9ef3ad92ab
2:179424095 TTN C>A	2	179424095	179424095	C	A	TTN	c.86764G>T	NM_001267550.1	NP_001254479.1:p.(Glu28922Ter)	NC_000002.11:g.179424095C>A	(Likely) pathogenic	1 lab	9ef3e866da
X:153591044 FLNA C>T	X	153591044	153591044	C	T	FLNA	c.2389G>A	NM_001110556.2	NP_001104026.1:p.(Ala797Thr)	NC_000023.10:g.153591044C>T	(Likely) benign	1 lab	9ef4465652
11:3988843 STIM1 A>G	11	3988843	3988843	A	G	STIM1	c.201A>G	NM_001277961.1	NP_001264890.1:p.(Ala67=)	NC_000011.9:g.3988843A>G	(Likely) benign	1 lab	9ef87b16e0
7:81765998 CACNA2D1 A>C	7	81765998	81765998	A	C	CACNA2D1	c.355-6T>G	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81765998A>C	(Likely) benign	1 lab	9efc1e70f5
X:107939643 COL4A5 G>GAT	X	107939643	107939658	G	GAT	COL4A5	c.*49_*50dup	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107939657_107939658dup	(Likely) benign	1 lab	9efcae622a
3:38592231 SCN5A TCTC>T	3	38592231	38592238	TCTC	T	SCN5A	c.5626_5628del	NM_000335.5	NP_000326.2:p.(Glu1876del)	NC_000003.11:g.38592236_38592238del	VUS	1 lab	9f01724235
20:61981554 CHRNA4 C>T	20	61981554	61981554	C	T	CHRNA4	c.1209G>A	NM_000744.6	NP_000735.1:p.(Pro403=)	NC_000020.10:g.61981554C>T	(Likely) benign	1 lab	9f047f0257
2:86444247 REEP1 CAGAA>C	2	86444247	86444253	CAGAA	C	REEP1	c.784-18_784-15del	NM_001371279.1	NP_001358208.1:p.?	NC_000002.11:g.86444250_86444253del	(Likely) benign	1 lab	9f062b0e43
2:47273581 TTC7A G>C	2	47273581	47273581	G	C	TTC7A	c.1919+11G>C	NM_001288951.2	NP_001275880.1:p.?	NC_000002.11:g.47273581G>C	(Likely) benign	1 lab	9f065307fc
4:15480876 CC2D2A G>A	4	15480876	15480876	G	A	CC2D2A	c.153G>A	NM_020785.2	NP_065836.2:p.(Trp51Ter)	NC_000004.11:g.15480876G>A	(Likely) pathogenic	1 lab	9f12e6636c
1:62718801 KANK4 C>A	1	62718801	62718801	C	A	KANK4	c.2620G>T	NM_181712.5	NP_859063.3:p.(Glu874Ter)	NC_000001.10:g.62718801C>A	(Likely) pathogenic	1 lab	9f14325725
16:1505120 CLCN7 G>A	16	1505120	1505120	G	A	CLCN7	c.1098+15C>T	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1505120G>A	(Likely) benign	1 lab	9f17f0cbd8
6:32025956 TNXB A>G	6	32025956	32025956	A	G	TNXB	c.7704T>C	NM_019105.8	NP_061978.6:p.(Val2568=)	NC_000006.11:g.32025956A>G	(Likely) benign	1 lab	9f19d049ca
X:100615555 BTK C>A	X	100615555	100615555	C	A	BTK	c.776+1G>T	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100615555C>A	(Likely) pathogenic	1 lab	9f1c2a1b46
12:98991842 SLC25A3 TC>T	12	98991842	98991844	TC	T	SLC25A3	c.459+31del	NM_213611.3	NP_998776.1:p.?	NC_000012.11:g.98991844del	(Likely) benign	1 lab	d4708f8558
X:22208623 PHEX A>G	X	22208623	22208623	A	G	PHEX	c.1645+4A>G	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22208623A>G	(Likely) pathogenic	1 lab	9f202c7d8f
12:110013846 MVK T>C	12	110013846	110013846	T	C	MVK	c.122T>C	NM_000431.2	NP_000422.1:p.(Leu41Pro)	NC_000012.11:g.110013846T>C	VUS	1 lab	9f208d739a
19:12774261 MAN2B1 C>A	19	12774261	12774261	C	A	MAN2B1	c.779G>T	NM_000528.4	NP_000519.2:p.(Gly260Val)	NC_000019.9:g.12774261C>A	(Likely) benign	1 lab	9f22f42888
1:247588460 NLRP3 A>G	1	247588460	247588460	A	G	NLRP3	c.1709A>G	NM_001243133.2	NP_001230062.1:p.(Tyr570Cys)	NC_000001.10:g.247588460A>G	(Likely) pathogenic	1 lab	9f26bffb52
2:198360110 HSPD1 C>T	2	198360110	198360110	C	T	HSPD1	c.428-10G>A	NM_002156.5	NP_002147.2:p.?	NC_000002.11:g.198360110C>T	(Likely) benign	1 lab	9f27ad2b06
16:2106230 TSC2 C>T	16	2106230	2106230	C	T	TSC2	c.633C>T	NM_000548.3	NP_000539.2:p.(Ser211=)	NC_000016.9:g.2106230C>T	(Likely) benign	1 lab	9f2c2d1131
16:2103375 TSC2 G>A	16	2103375	2103375	G	A	TSC2	c.258G>A	NM_000548.3	NP_000539.2:p.(Ala86=)	NC_000016.9:g.2103375G>A	(Likely) benign	1 lab	9f2f8720d3
21:35821799 KCNE1 AG>A	21	35821799	35821802	AG	A	KCNE1	c.133del	NM_000219.6	NP_000210.2:p.(Leu45SerfsTer19)	NC_000021.8:g.35821802del	(Likely) pathogenic	1 lab	9f3b85dbab
17:40575061 CAVIN1 C>T	17	40575061	40575061	C	T	CAVIN1	c.55G>A	NM_012232.6	NP_036364.2:p.(Ala19Thr)	NC_000017.10:g.40575061C>T	(Likely) benign	1 lab	9f47660eea
1:160322794 NCSTN T>C	1	160322794	160322794	T	C	NCSTN	c.1101+13T>C	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160322794T>C	(Likely) benign	1 lab	9f476cd0b2
4:79410059 FRAS1 T>C	4	79410059	79410059	T	C	FRAS1	c.8783T>C	NM_025074.7	NP_079350.5:p.(Leu2928Pro)	NC_000004.11:g.79410059T>C	(Likely) pathogenic	1 lab	9f4a7ff94a
16:3707128 DNASE1 G>A	16	3707128	3707128	G	A	DNASE1	c.549+16G>A	NM_005223.3	NP_005214.2:p.?	NC_000016.9:g.3707128G>A	(Likely) benign	1 lab	9f4bcb83fd
2:172585342 DYNC1I2 C>T	2	172585342	172585342	C	T	DYNC1I2	c.1373C>T	NM_001378.3	NP_001369.1:p.(Thr458Ile)	NC_000002.11:g.172585342C>T	VUS	1 lab	d474244bfc
5:88100560 MEF2C A>T	5	88100560	88100560	A	T	MEF2C	c.113T>A	NM_002397.5	NP_002388.2:p.(Leu38Gln)	NC_000005.9:g.88100560A>T	(Likely) pathogenic	1 lab	9f4ca6d48e
20:57484620 GNAS T>C	20	57484620	57484620	T	C	GNAS	c.704T>C	NM_000516.6	NP_000507.1:p.(Ile235Thr)	NC_000020.10:g.57484620T>C	(Likely) pathogenic	1 lab	9f4cd6e3d3
13:32905299 BRCA2 G>A	13	32905299	32905299	G	A	BRCA2	c.793+132G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905299G>A	(Likely) benign	1 lab	9f4e1b9560
19:18180396 IL12RB1 G>A	19	18180396	18180396	G	A	IL12RB1	c.1149C>T	NM_005535.1	NP_005526.1:p.(Cys383=)	NC_000019.9:g.18180396G>A	(Likely) benign	1 lab	9f52cdfc79
8:41555736 ANK1 C>T	8	41555736	41555736	C	T	ANK1	c.2559-97G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41555736C>T	(Likely) benign	1 lab	9f52eda026
21:47417432 COL6A1 A>AG	21	47417432	47417438	A	AG	COL6A1	c.1461+41dup	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47417438dup	(Likely) benign	1 lab	9f54bb89b0
2:179642448 TTN G>A	2	179642448	179642448	G	A	TTN	c.4463C>T	NM_001267550.2	NP_001254479.2:p.(Thr1488Met)	NC_000002.11:g.179642448G>A	VUS	1 lab	d4769dd85f
1:201333470 TNNT2 G>T	1	201333470	201333470	G	T	TNNT2	c.415C>A	NM_001276347.2	NP_001263276.1:p.(Arg139Ser)	NC_000001.10:g.201333470G>T	VUS	1 lab	9f5826ad90
7:140434574 BRAF C>A	7	140434574	140434574	C	A	BRAF	c.2128-4G>T	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140434574C>A	(Likely) benign	1 lab	9f59f07564
16:56867237 NUP93 C>T	16	56867237	56867237	C	T	NUP93	c.1456C>T	NM_014669.5	NP_055484.3:p.(Arg486Cys)	NC_000016.9:g.56867237C>T	(Likely) benign	1 lab	9f5a9ee33c
16:50745872 NOD2 C>T	16	50745872	50745872	C	T	NOD2	c.2050C>T	NM_022162.1	NP_071445.1:p.(Arg684Trp)	NC_000016.9:g.50745872C>T	(Likely) benign	1 lab	9f6095e0c8
11:64575104 MEN1 C>T	11	64575104	64575104	C	T	MEN1	c.718G>A	NM_130803.2	NP_570715.1:p.(Glu240Lys)	NC_000011.9:g.64575104C>T	(Likely) pathogenic	1 lab	9f666dce02
15:90774741 CIB1 TAGG>T	15	90774741	90774746	TAGG	T	CIB1	c.196-5_196-3del	NM_006384.4	NP_006375.2:p.?	NC_000015.9:g.90774744_90774746del	(Likely) benign	1 lab	9f667fc003
7:107434255 SLC26A3 C>T	7	107434255	107434255	C	T	SLC26A3	c.203G>A	NM_000111.2	NP_000102.1:p.(Arg68Gln)	NC_000007.13:g.107434255C>T	(Likely) benign	1 lab	9f678afe4d
1:205131305 DSTYK G>A	1	205131305	205131305	G	A	DSTYK	c.1677C>T	NM_015375.3	NP_056190.1:p.(Ala559=)	NC_000001.10:g.205131305G>A	(Likely) benign	1 lab	9f68141d05
19:45900258 PPP1R13L C>T	19	45900258	45900258	C	T	PPP1R13L	c.257G>A	NM_006663.4	NP_006654.2:p.(Arg86Gln)	NC_000019.9:g.45900258C>T	(Likely) benign	1 lab	9f697baffb
12:6443278 TNFRSF1A A>C	12	6443278	6443278	A	C	TNFRSF1A	c.172T>G	NM_001065.3	NP_001056.1:p.(Cys58Gly)	NC_000012.11:g.6443278A>C	(Likely) pathogenic	1 lab	9f69e2bd5b
6:7585395 DSP A>T	6	7585395	7585395	A	T	DSP	c.7900A>T	NM_004415.2	NP_004406.2:p.(Thr2634Ser)	NC_000006.11:g.7585395A>T	(Likely) benign	1 lab	9f6e061c8a
5:171318529 FBXW11 T>C	5	171318529	171318529	T	C	FBXW11	c.731A>G	NM_012300.3	NP_036432.2:p.(Tyr244Cys)	NC_000005.9:g.171318529T>C	VUS	1 lab	d476cbe7d5
8:17942276 ASAH1 C>G	8	17942276	17942276	C	G	ASAH1	c.35G>C	NM_004315.6	NP_004306.3:p.(Arg12Pro)	NC_000008.10:g.17942276C>G	(Likely) benign	1 lab	9f7103ae2a
2:166900380 SCN1A G>A	2	166900380	166900380	G	A	SCN1A	c.1842C>T	NM_001165963.3	NP_001159435.1:p.(His614=)	NC_000002.11:g.166900380G>A	(Likely) benign	1 lab	9f72d5f15e
5:52394439 MOCS2 T>C	5	52394439	52394439	T	C	MOCS2	c.560A>G	NM_004531.5	NP_004522.1:p.(Asn187Ser)	NC_000005.9:g.52394439T>C	(Likely) benign	1 lab	9f77d48eae
3:52485461 TNNC1 C>T	3	52485461	52485461	C	T	TNNC1	c.400G>A	NM_003280.2	NP_003271.1:p.(Glu134Lys)	NC_000003.11:g.52485461C>T	(Likely) pathogenic	1 lab	9f77fe60a6
13:37539716 ALG5 G>A	13	37539716	37539716	G	A	ALG5	c.769C>T	NM_013338.5	NP_037470.1:p.(Arg257Ter)	NC_000013.10:g.37539716G>A	(Likely) pathogenic	1 lab	9f79e13111
5:148386660 SH3TC2 G>A	5	148386660	148386660	G	A	SH3TC2	c.3479-20C>T	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148386660G>A	(Likely) benign	1 lab	9f7b02a3ac
15:77310884 PSTPIP1 C>T	15	77310884	77310884	C	T	PSTPIP1	c.212+12C>T	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77310884C>T	(Likely) benign	1 lab	a025224538
5:161578663 GABRG2 CT>C	5	161578663	161578672	CT	C	GABRG2	c.1129-64del	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161578672del	(Likely) benign	1 lab	9f8822376c
11:124756555 ROBO4 T>TG	11	124756555	124756560	T	TG	ROBO4	c.2598dup	NM_019055.6	NP_061928.4:p.(Thr867HisfsTer16)	NC_000011.9:g.124756560dup	VUS	1 lab	9f89f047e9
17:48156828 ITGA3 G>A	17	48156828	48156828	G	A	ITGA3	c.2613G>A	NM_002204.4	NP_002195.1:p.(Gln871=)	NC_000017.10:g.48156828G>A	(Likely) benign	1 lab	9f8b1c10fb
1:6267531 RNF207 C>T	1	6267531	6267531	C	T	RNF207	c.284C>T	NM_207396.3	NP_997279.2:p.(Ala95Val)	NC_000001.10:g.6267531C>T	(Likely) benign	1 lab	9f8ba91f52
9:6620217 GLDC G>A	9	6620217	6620217	G	A	GLDC	c.437C>T	NM_000170.2	NP_000161.2:p.(Thr146Met)	NC_000009.11:g.6620217G>A	VUS	1 lab	a566e0455c
2:218999705 CXCR2 C>T	2	218999705	218999705	C	T	CXCR2	c.181C>T	NM_001557.4	NP_001548.1:p.(Leu61=)	NC_000002.11:g.218999705C>T	(Likely) benign	1 lab	9f8ca8ebe4
4:103645126 MANBA TA>T	4	103645126	103645134	TA	T	MANBA	c.273-3del	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103645134del	(Likely) benign	1 lab	9f8f3c4c4c
4:110667465 CFI G>A	4	110667465	110667465	G	A	CFI	c.1342C>T	NM_000204.3	NP_000195.2:p.(Arg448Cys)	NC_000004.11:g.110667465G>A	(Likely) benign	1 lab	9f93369591
13:32944776 BRCA2 G>A	13	32944776	32944776	G	A	BRCA2	c.8487+82G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944776G>A	(Likely) benign	1 lab	9f95ca2a1b
X:49853403 CLCN5 G>A	X	49853403	49853403	G	A	CLCN5	c.1396G>A	NM_000084.5	NP_000075.1:p.(Gly466Ser)	NC_000023.10:g.49853403G>A	VUS	1 lab	9f97bad1eb
X:153592450 FLNA C>T	X	153592450	153592450	C	T	FLNA	c.2220G>A	NM_001110556.2	NP_001104026.1:p.(Pro740=)	NC_000023.10:g.153592450C>T	(Likely) benign	1 lab	9fa0759379
13:32914056 BRCA2 C>A	13	32914056	32914056	C	A	BRCA2	c.5564C>A	NM_000059.4	NP_000050.3:p.(Ser1855Ter)	NC_000013.10:g.32914056C>A	(Likely) pathogenic	1 lab	da2216cb5e
9:418222 DOCK8 A>T	9	418222	418222	A	T	DOCK8	c.3840+15A>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.418222A>T	(Likely) benign	1 lab	9fa5045488
17:7592373 WRAP53 C>G	17	7592373	7592373	C	G	WRAP53	c.407C>G	NM_018081.2	NP_060551.2:p.(Pro136Arg)	NC_000017.10:g.7592373C>G	(Likely) benign	1 lab	9fa83eef93
1:196709750 CFH C>A	1	196709750	196709750	C	A	CFH	c.2784C>A	NM_000186.3	NP_000177.2:p.(Gly928=)	NC_000001.10:g.196709750C>A	(Likely) benign	1 lab	9faad729a8
2:179442018 TTN G>A	2	179442018	179442018	G	A	TTN	c.42224C>T	NM_133432.3	NP_597676.3:p.(Ala14075Val)	NC_000002.11:g.179442018G>A	VUS	1 lab	9fad17b079
4:187534253 FAT1 C>T	4	187534253	187534253	C	T	FAT1	c.9463+10G>A	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187534253C>T	(Likely) benign	1 lab	9faf4cf7fa
8:144810138 SACK1H G>A	8	144810138	144810138	G	A	SACK1H	c.1493C>T	NM_198488.3	NP_940890.3:p.(Pro498Leu)	NC_000008.10:g.144810138G>A	(Likely) benign	1 lab	9fb5a579d2
11:73814689 C2CD3 G>A	11	73814689	73814689	G	A	C2CD3	c.2086-19C>T	NM_001286577.1	NP_001273506.1:p.?	NC_000011.9:g.73814689G>A	(Likely) benign	1 lab	9fb8937d2a
4:39207321 WDR19 GA>G	4	39207321	39207322	GA	G	WDR19	c.856del	NM_025132.4	NP_079408.3:p.(Thr286LeufsTer21)	NC_000004.11:g.39207322del	(Likely) pathogenic	1 lab	9fbb07e0f8
4:110681136 CFI T>G	4	110681136	110681136	T	G	CFI	c.883+290A>C	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110681136T>G	(Likely) benign	1 lab	9fc1c7414e
19:36223459 KMT2B C>G	19	36223459	36223459	C	G	KMT2B	c.6009C>G	NM_014727.3	NP_055542.1:p.(Phe2003Leu)	NC_000019.9:g.36223459C>G	VUS	1 lab	da243a713e
9:138662861 KCNT1 G>A	9	138662861	138662861	G	A	KCNT1	c.1928G>A	NM_020822.2	NP_065873.2:p.(Arg643Gln)	NC_000009.11:g.138662861G>A	(Likely) benign	1 lab	9fc75927c5
1:11082349 TARDBP G>T	1	11082349	11082349	G	T	TARDBP	c.883G>T	NM_007375.3	NP_031401.1:p.(Gly295Cys)	NC_000001.10:g.11082349G>T	VUS	1 lab	9fc948ca0d
9:140128576 SLC34A3 CG>C	9	140128576	140128579	CG	C	SLC34A3	c.944del	NM_001177316.2	NP_001170787.2:p.(Gly315AlafsTer28)	NC_000009.11:g.140128579del	(Likely) pathogenic	1 lab	9fccc37e71
1:205132842 DSTYK T>G	1	205132842	205132842	T	G	DSTYK	c.1557+9A>C	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205132842T>G	(Likely) benign	1 lab	9fce02a53c
3:30732985 TGFBR2 G>A	3	30732985	30732985	G	A	TGFBR2	c.1673G>A	NM_001024847.2	NP_001020018.1:p.(Cys558Tyr)	NC_000003.11:g.30732985G>A	VUS	1 lab	9fdab8ae28
2:224642565 AP1S3 T>A	2	224642565	224642565	T	A	AP1S3	c.25A>T	NM_001039569.2	NP_001034658.1:p.(Ser9Cys)	NC_000002.11:g.224642565T>A	VUS	1 lab	9fdb076a0d
11:108139054 ATM A>G	11	108139054	108139054	A	G	ATM	c.2639-83A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108139054A>G	(Likely) benign	1 lab	9fdb8143b3
2:191929526 STAT4 G>A	2	191929526	191929526	G	A	STAT4	c.782+7C>T	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191929526G>A	(Likely) benign	1 lab	9fdc91cc29
11:9168686 DENND5A C>A	11	9168686	9168686	C	A	DENND5A	c.2460G>T	NM_001348750.2	NP_001335679.1:p.(Lys820Asn)	NC_000011.9:g.9168686C>A	VUS	1 lab	9fdea87985
1:11082494 TARDBP A>G	1	11082494	11082494	A	G	TARDBP	c.1028A>G	NM_007375.3	NP_031401.1:p.(Gln343Arg)	NC_000001.10:g.11082494A>G	(Likely) pathogenic	1 lab	9fee310015
4:114179559 ANK2 A>G	4	114179559	114179559	A	G	ANK2	c.1378A>G	NM_001148.4	NP_001139.3:p.(Thr460Ala)	NC_000004.11:g.114179559A>G	VUS	1 lab	9ff68e3b65
15:93444293 CHD2 T>G	15	93444293	93444293	T	G	CHD2	c.-71-104T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93444293T>G	(Likely) benign	1 lab	a00097b7c9
4:151727559 LRBA A>G	4	151727559	151727559	A	G	LRBA	c.5385-3T>C	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151727559A>G	(Likely) benign	1 lab	a00270dd2a
X:53265568 IQSEC2 G>T	X	53265568	53265568	G	T	IQSEC2	c.3387C>A	NM_001111125.3	NP_001104595.1:p.(Tyr1129Ter)	NC_000023.10:g.53265568G>T	(Likely) pathogenic	1 lab	a002951e1f
4:151772021 LRBA T>C	4	151772021	151772021	T	C	LRBA	c.3859A>G	NM_006726.4	NP_006717.2:p.(Ile1287Val)	NC_000004.11:g.151772021T>C	(Likely) benign	1 lab	a0035f7722
2:228167810 COL4A3 G>A	2	228167810	228167810	G	A	COL4A3	c.3939G>A	NM_000091.4	NP_000082.2:p.(Gly1313=)	NC_000002.11:g.228167810G>A	(Likely) benign	1 lab	a004dabc08
7:107417137 SLC26A3 G>A	7	107417137	107417137	G	A	SLC26A3	c.1529C>T	NM_000111.2	NP_000102.1:p.(Thr510Met)	NC_000007.13:g.107417137G>A	(Likely) benign	1 lab	a0058f19eb
2:128044609 ERCC3 G>A	2	128044609	128044609	G	A	ERCC3	c.1028-16C>T	NM_000122.1	NP_000113.1:p.?	NC_000002.11:g.128044609G>A	(Likely) benign	1 lab	a00c940116
7:80300493 CD36 C>A	7	80300493	80300493	C	A	CD36	c.1006+13C>A	NM_001001547.3	NP_001001547.1:p.?	NC_000007.13:g.80300493C>A	(Likely) benign	1 lab	a0115294b6
3:195792296 TFRC G>T	3	195792296	195792296	G	T	TFRC	c.1198+18C>A	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195792296G>T	(Likely) benign	1 lab	a0130ee69e
13:32911265 BRCA2 T>G	13	32911265	32911265	T	G	BRCA2	c.2773T>G	NM_000059.3	NP_000050.2:p.(Ser925Ala)	NC_000013.10:g.32911265T>G	VUS	1 lab	a013819627
5:45262205 HCN1 C>T	5	45262205	45262205	C	T	HCN1	c.2491G>A	NM_021072.4	NP_066550.2:p.(Gly831Ser)	NC_000005.9:g.45262205C>T	(Likely) benign	1 lab	a0145de5b9
2:109379748 RANBP2 C>T	2	109379748	109379748	C	T	RANBP2	c.2753C>T	NM_006267.5	NP_006258.3:p.(Pro918Leu)	NC_000002.11:g.109379748C>T	VUS	1 lab	d479789652
2:179397302 TTN C>G	2	179397302	179397302	C	G	TTN	c.77220G>C	NM_133432.3	NP_597676.3:p.(Arg25740Ser)	NC_000002.11:g.179397302C>G	VUS	1 lab	a0226c0508
8:13356655 DLC1 T>A	8	13356655	13356655	T	A	DLC1	c.926A>T	NM_182643.3	NP_872584.2:p.(Lys309Met)	NC_000008.10:g.13356655T>A	(Likely) benign	1 lab	a022fe2946
X:135115670 SLC9A6 A>G	X	135115670	135115670	A	G	SLC9A6	c.1727+18A>G	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135115670A>G	(Likely) benign	1 lab	a02619483a
1:158653199 SPTA1 G>A	1	158653199	158653199	G	A	SPTA1	c.352C>T	NM_003126.3	NP_003117.2:p.(Arg118Ter)	NC_000001.10:g.158653199G>A	(Likely) pathogenic	1 lab	a02b9305ea
1:228431095 OBSCN A>G	1	228431095	228431095	A	G	OBSCN	c.3141A>G	NM_052843.4	NP_443075.3:p.(Thr1047=)	NC_000001.10:g.228431095A>G	(Likely) benign	1 lab	d479796ff8
9:139409769 NOTCH1 C>T	9	139409769	139409769	C	T	NOTCH1	c.1987G>A	NM_017617.5	NP_060087.3:p.(Glu663Lys)	NC_000009.11:g.139409769C>T	VUS	1 lab	a03fd2aed0
11:65307588 LTBP3 G>A	11	65307588	65307588	G	A	LTBP3	c.3281C>T	NM_001130144.2	NP_001123616.1:p.(Pro1094Leu)	NC_000011.9:g.65307588G>A	VUS	1 lab	a040c1f5b5
X:153284188 IRAK1 C>T	X	153284188	153284188	C	T	IRAK1	c.591G>A	NM_001569.4	NP_001560.2:p.(Pro197=)	NC_000023.10:g.153284188C>T	(Likely) benign	1 lab	a04ce639a9
21:46330647 ITGB2 G>A	21	46330647	46330647	G	A	ITGB2	c.51C>T	NM_000211.3	NP_000202.2:p.(Leu17=)	NC_000021.8:g.46330647G>A	(Likely) benign	1 lab	a04d0656ef
20:399979 RBCK1 C>G	20	399979	399979	C	G	RBCK1	c.461-12C>G	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.399979C>G	(Likely) benign	1 lab	a04d2119bc
12:39735937 KIF21A G>C	12	39735937	39735937	G	C	KIF21A	c.1713-11C>G	NM_001173464.2	NP_001166935.1:p.?	NC_000012.11:g.39735937G>C	(Likely) benign	1 lab	a04d7f44bd
9:135147195 SETX T>C	9	135147195	135147195	T	C	SETX	c.7101A>G	NM_015046.5	NP_055861.3:p.(Gly2367=)	NC_000009.11:g.135147195T>C	(Likely) benign	1 lab	a0526929b2
12:110029279 MVK C>A	12	110029279	110029279	C	A	MVK	c.885+117C>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029279C>A	(Likely) benign	1 lab	a054b74b9f
2:179400541 TTN CTT>C	2	179400541	179400543	CTT	C	TTN	c.100799_100800del	NM_001267550.2	NP_001254479.2:p.(Glu33600GlyfsTer11)	NC_000002.11:g.179400542_179400543del	(Likely) pathogenic	1 lab	a057fa823a
2:179474446 TTN C>T	2	179474446	179474446	C	T	TTN	c.24884G>A	NM_133432.3	NP_597676.3:p.(Arg8295Gln)	NC_000002.11:g.179474446C>T	(Likely) benign	1 lab	a05e5be7d3
7:2946338 CARD11 G>A	7	2946338	2946338	G	A	CARD11	c.3399C>T	NM_032415.6	NP_115791.3:p.(Arg1133=)	NC_000007.13:g.2946338G>A	(Likely) benign	1 lab	a062b7a216
2:48033641 MSH6 G>A	2	48033641	48033641	G	A	MSH6	c.3852G>A	NM_000179.2	NP_000170.1:p.(Thr1284=)	NC_000002.11:g.48033641G>A	(Likely) benign	1 lab	a062cc8691
20:62076136 KCNQ2 C>A	20	62076136	62076136	C	A	KCNQ2	c.566G>T	NM_172107.4	NP_742105.1:p.(Gly189Val)	NC_000020.10:g.62076136C>A	(Likely) pathogenic	1 lab	a06325280e
17:39658737 KRT13 C>T	17	39658737	39658737	C	T	KRT13	c.1133G>A	NM_002274.4	NP_002265.3:p.(Arg378His)	NC_000017.10:g.39658737C>T	(Likely) benign	1 lab	d47d73dd95
15:43500912 EPB42 G>A	15	43500912	43500912	G	A	EPB42	c.984C>T	NM_000119.3	NP_000110.2:p.(Thr328=)	NC_000015.9:g.43500912G>A	(Likely) benign	1 lab	a065ae14fd
17:41256964 BRCA1 T>C	17	41256964	41256964	T	C	BRCA1	c.222A>G	NM_007294.3	NP_009225.1:p.(Gln74=)	NC_000017.10:g.41256964T>C	(Likely) benign	1 lab	a069f644c3
3:186302391 DNAJB11 A>ATTGTGTGTGTGTGT	3	186302391	186302392	A	ATTGTGTGTGTGTGT	DNAJB11	c.1012+13_1012+14insTTGTGTGTGTGTGT	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391_186302392insTTGTGTGTGTGTGT	(Likely) benign	1 lab	a06d0e6517
4:78979257 FRAS1 C>CGCGT	4	78979257	78979259	C	CGCGT	FRAS1	c.76+19_76+20insCGTG	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979258_78979259insCGTG	(Likely) benign	1 lab	a06dbe29a3
10:14976765 DCLRE1C G>A	10	14976765	14976765	G	A	DCLRE1C	c.474C>T	NM_001033855.1	NP_001029027.1:p.(Asp158=)	NC_000010.10:g.14976765G>A	(Likely) benign	1 lab	a06dd521f9
19:13418580 CACNA1A C>A	19	13418580	13418580	C	A	CACNA1A	c.1989+16G>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13418580C>A	(Likely) benign	1 lab	a074aa27b5
19:2115210 AP3D1 A>G	19	2115210	2115210	A	G	AP3D1	c.2349+8T>C	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2115210A>G	(Likely) benign	1 lab	a0766007cb
19:16874646 NWD1 C>T	19	16874646	16874646	C	T	NWD1	c.2141C>T	NM_001007525.5	NP_001007526.3:p.(Pro714Leu)	NC_000019.9:g.16874646C>T	VUS	1 lab	a079c066b7
12:21962812 ABCC9 A>G	12	21962812	21962812	A	G	ABCC9	c.4289T>C	NM_020297.2	NP_064693.2:p.(Met1430Thr)	NC_000012.11:g.21962812A>G	VUS	1 lab	a07c660245
15:93483064 CHD2 C>G	15	93483064	93483064	C	G	CHD2	c.692+116C>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93483064C>G	(Likely) benign	1 lab	a07d151a3b
2:179581897 TTN C>T	2	179581897	179581897	C	T	TTN	c.25564G>A	NM_001267550.1	NP_001254479.1:p.(Asp8522Asn)	NC_000002.11:g.179581897C>T	(Likely) benign	1 lab	a07fd396dc
11:47354231 MYBPC3 G>C	11	47354231	47354231	G	C	MYBPC3	c.3513C>G	NM_000256.3	NP_000247.2:p.(Asn1171Lys)	NC_000011.9:g.47354231G>C	VUS	1 lab	a084749c31
19:48902063 GRIN2D G>A	19	48902063	48902063	G	A	GRIN2D	c.414G>A	NM_000836.2	NP_000827.2:p.(Ser138=)	NC_000019.9:g.48902063G>A	(Likely) benign	1 lab	a08bd0dcdf
9:138585617 SOHLH1 T>C	9	138585617	138585617	T	C	SOHLH1	c.990A>G	NM_001101677.1	NP_001095147.1:p.(Pro330=)	NC_000009.11:g.138585617T>C	(Likely) benign	1 lab	a08e31986a
19:13445373 CACNA1A GTT>G	19	13445373	13445376	GTT	G	CACNA1A	c.1083-68_1083-67del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13445375_13445376del	(Likely) benign	1 lab	a092fa2683
16:89246698 CDH15 G>A	16	89246698	89246698	G	A	CDH15	c.292G>A	NM_004933.3	NP_004924.1:p.(Asp98Asn)	NC_000016.9:g.89246698G>A	VUS	1 lab	d48a8b368d
9:130580474 ENG G>T	9	130580474	130580474	G	T	ENG	c.1611C>A	NM_000118.3	NP_000109.1:p.(Tyr537Ter)	NC_000009.11:g.130580474G>T	(Likely) pathogenic	1 lab	a09405a9a1
1:62747315 KANK4 AAGG>A	1	62747315	62747322	AAGG	A	KANK4	c.-70-12_-70-10del	NM_181712.5	NP_859063.3:p.?	NC_000001.10:g.62747320_62747322del	(Likely) benign	1 lab	a0952093f4
2:71188004 ATP6V1B1 G>T	2	71188004	71188004	G	T	ATP6V1B1	c.586-47G>T	NM_001692.4	NP_001683.2:p.?	NC_000002.11:g.71188004G>T	(Likely) benign	1 lab	a09b57b83b
8:100155336 VPS13B A>C	8	100155336	100155336	A	C	VPS13B	c.1786A>C	NM_017890.4	NP_060360.3:p.(Lys596Gln)	NC_000008.10:g.100155336A>C	(Likely) benign	1 lab	a09ba2cc76
4:79186331 FRAS1 C>T	4	79186331	79186331	C	T	FRAS1	c.687+69C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79186331C>T	(Likely) benign	1 lab	a09ce9177e
17:7124751 ACADVL T>C	17	7124751	7124751	T	C	ACADVL	c.250-106T>C	NM_001270448.1	NP_001257377.1:p.?	NC_000017.10:g.7124751T>C	(Likely) benign	1 lab	a0a1ae8275
8:125326305 TMEM65 AAG>A	8	125326305	125326307	AAG	A	TMEM65	c.622-5_622-4del	NM_194291.3	NP_919267.2:p.?	NC_000008.10:g.125326306_125326307del	(Likely) benign	1 lab	a0a3af876c
11:62393590 GANAB C>T	11	62393590	62393590	C	T	GANAB	c.2738G>A	NM_198335.4	NP_938149.2:p.(Arg913Gln)	NC_000011.9:g.62393590C>T	(Likely) benign	1 lab	a0a3f51f2c
X:10153218 CLCN4 T>G	X	10153218	10153218	T	G	CLCN4	c.144+2T>G	NM_001830.4	NP_001821.2:p.?	NC_000023.10:g.10153218T>G	(Likely) pathogenic	1 lab	a0a5a68202
3:10191489 VHL G>A	3	10191489	10191489	G	A	VHL	c.482G>A	NM_000551.3	NP_000542.1:p.(Arg161Gln)	NC_000003.11:g.10191489G>A	VUS	1 lab	a0addac0d4
2:85768234 MAT2A T>C	2	85768234	85768234	T	C	MAT2A	c.120T>C	NM_005911.6	NP_005902.1:p.(Ala40=)	NC_000002.11:g.85768234T>C	(Likely) benign	1 lab	a0aef32e60
4:79365522 FRAS1 A>G	4	79365522	79365522	A	G	FRAS1	c.5666-1154A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79365522A>G	(Likely) benign	1 lab	a0b1ef1fa2
5:35877140 IL7R G>A	5	35877140	35877140	G	A	IL7R	n.1756G>A	NR_120485.3		NC_000005.9:g.35877140G>A	(Likely) benign	1 lab	a0b53d9683
X:1407736 CSF2RA C>T	X	1407736	1407736	C	T	CSF2RA	c.428C>T	NM_006140.5	NP_006131.2:p.(Thr143Met)	NC_000023.10:g.1407736C>T	(Likely) benign	1 lab	a0b641073c
5:90085654 ADGRV1 T>C	5	90085654	90085654	T	C	ADGRV1	c.14029T>C	NM_032119.4	NP_115495.3:p.(Phe4677Leu)	NC_000005.9:g.90085654T>C	(Likely) benign	1 lab	a0b8407d18
2:166238945 SCN2A T>C	2	166238945	166238945	T	C	SCN2A	c.4551+1238T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166238945T>C	(Likely) benign	1 lab	a0b887cf52
9:32488794 RIGI C>A	9	32488794	32488794	C	A	RIGI	c.891G>T	NM_014314.4	NP_055129.2:p.(Ala297=)	NC_000009.11:g.32488794C>A	(Likely) benign	1 lab	a0bb06f98e
6:51921514 PKHD1 G>A	6	51921514	51921514	G	A	PKHD1	c.1675C>T	NM_138694.4	NP_619639.3:p.(Arg559Trp)	NC_000006.11:g.51921514G>A	(Likely) benign	1 lab	a0bbca5dce
16:68387458 PRMT7 G>C	16	68387458	68387458	G	C	PRMT7	c.1639G>C	NM_019023.5	NP_061896.1:p.(Asp547His)	NC_000016.9:g.68387458G>C	VUS	1 lab	d49f6e486d
9:139265514 CARD9 G>A	9	139265514	139265514	G	A	CARD9	c.406C>T	NM_052813.4	NP_434700.2:p.(Leu136=)	NC_000009.11:g.139265514G>A	(Likely) benign	1 lab	a0c359f6ec
X:154194886 F8 C>T	X	154194886	154194886	C	T	F8	c.1086G>A	NM_000132.3	NP_000123.1:p.(Ala362=)	NC_000023.10:g.154194886C>T	(Likely) benign	1 lab	a0c562eb84
18:12706731 PSMG2 C>CT	18	12706731	12706734	C	CT	PSMG2	c.229+14dup	NM_020232.5	NP_064617.2:p.?	NC_000018.9:g.12706734dup	(Likely) benign	1 lab	a0c71f1388
11:71175174 NADSYN1 G>A	11	71175174	71175174	G	A	NADSYN1	c.393G>A	NM_018161.5	NP_060631.2:p.(Pro131=)	NC_000011.9:g.71175174G>A	(Likely) benign	1 lab	a0c741acc1
X:31165470 DMD T>C	X	31165470	31165470	T	C	DMD	c.10719A>G	NM_004006.2	NP_003997.1:p.(Glu3573=)	NC_000023.10:g.31165470T>C	(Likely) benign	1 lab	a0c7f374ea
3:189525985 TP63 C>A	3	189525985	189525985	C	A	TP63	c.325-76C>A	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189525985C>A	(Likely) benign	1 lab	a0cd1263d7
16:15818180 MYH11 G>A	16	15818180	15818180	G	A	MYH11	c.4224C>T	NM_001040113.2	NP_001035202.1:p.(Ile1408=)	NC_000016.9:g.15818180G>A	(Likely) benign	1 lab	a0d1dcced4
19:55668437 TNNI3 G>T	19	55668437	55668437	G	T	TNNI3	c.89C>A	NM_000363.4	NP_000354.4:p.(Ala30Asp)	NC_000019.9:g.55668437G>T	VUS	1 lab	a0df2ef1a2
16:27692862 KATNIP C>T	16	27692862	27692862	C	T	KATNIP	c.940+11C>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27692862C>T	(Likely) benign	1 lab	a0e07f2d3b
10:95994076 PLCE1 C>T	10	95994076	95994076	C	T	PLCE1	c.2214+7C>T	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.95994076C>T	(Likely) benign	1 lab	a0e0e07a69
22:42322259 TNFRSF13C C>T	22	42322259	42322259	C	T	TNFRSF13C	c.213G>A	NM_052945.3	NP_443177.1:p.(Ala71=)	NC_000022.10:g.42322259C>T	(Likely) benign	1 lab	a0e3710c35
2:55900211 PNPT1 A>G	2	55900211	55900211	A	G	PNPT1	c.683T>C	NM_033109.5	NP_149100.2:p.(Met228Thr)	NC_000002.11:g.55900211A>G	VUS	1 lab	da24a189fe
2:168105881 XIRP2 T>A	2	168105881	168105881	T	A	XIRP2	c.7979T>A	NM_152381.6	NP_689594.4:p.(Leu2660Ter)	NC_000002.11:g.168105881T>A	(Likely) pathogenic	1 lab	a0e7588f9d
10:13213232 MCM10 C>G	10	13213232	13213232	C	G	MCM10	c.318C>G	NM_182751.3	NP_877428.1:p.(Pro106=)	NC_000010.10:g.13213232C>G	(Likely) benign	1 lab	a0e80678ab
4:106370530 PPA2 G>A	4	106370530	106370530	G	A	PPA2	c.298C>T	NM_176869.3	NP_789845.1:p.(Arg100Trp)	NC_000004.11:g.106370530G>A	(Likely) pathogenic	1 lab	a0f1cae875
10:121436153 BAG3 G>T	10	121436153	121436153	G	T	BAG3	c.1087G>T	NM_004281.3	NP_004272.2:p.(Glu363Ter)	NC_000010.10:g.121436153G>T	(Likely) pathogenic	1 lab	a0f1dbfef3
16:1269142 CACNA1H C>T	16	1269142	1269142	C	T	CACNA1H	c.6048+12C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1269142C>T	(Likely) benign	1 lab	a0f1f5a031
2:166153691 SCN2A C>G	2	166153691	166153691	C	G	SCN2A	c.386+46C>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166153691C>G	VUS	1 lab	a0f7d80a5a
9:14812989 FREM1 C>T	9	14812989	14812989	C	T	FREM1	c.2714G>A	NM_144966.5	NP_659403.4:p.(Gly905Glu)	NC_000009.11:g.14812989C>T	(Likely) benign	1 lab	a102fd2474
1:228564778 OBSCN T>C	1	228564778	228564778	T	C	OBSCN	c.25936T>C	NM_001271223.2	NP_001258152.2:p.(Cys8646Arg)	NC_000001.10:g.228564778T>C	(Likely) benign	1 lab	a13357ecdd
9:77442693 TRPM6 C>G	9	77442693	77442693	C	G	TRPM6	c.841+1G>C	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77442693C>G	(Likely) pathogenic	1 lab	a1096b5092
19:48626272 LIG1 G>T	19	48626272	48626272	G	T	LIG1	c.2151C>A	NM_000234.1	NP_000225.1:p.(Asp717Glu)	NC_000019.9:g.48626272G>T	(Likely) benign	1 lab	a113363e56
5:122714134 CEP120 TAAAAAA>T	5	122714134	122714152	TAAAAAA	T	CEP120	c.2104-18_2104-13del	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122714147_122714152del	(Likely) benign	1 lab	a1152f494e
19:48946337 GRIN2D G>A	19	48946337	48946337	G	A	GRIN2D	c.3154G>A	NM_000836.2	NP_000827.2:p.(Asp1052Asn)	NC_000019.9:g.48946337G>A	(Likely) benign	1 lab	a117b3e3ce
11:77090368 PAK1 T>C	11	77090368	77090368	T	C	PAK1	c.357A>G	NM_001128620.1	NP_001122092.1:p.(Lys119=)	NC_000011.9:g.77090368T>C	(Likely) benign	1 lab	a1185d0424
4:79417786 FRAS1 C>T	4	79417786	79417786	C	T	FRAS1	c.8959-173C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79417786C>T	(Likely) benign	1 lab	a11a07a6fb
1:209961971 IRF6 G>A	1	209961971	209961971	G	A	IRF6	c.1198C>T	NM_006147.4	NP_006138.1:p.(Arg400Trp)	NC_000001.10:g.209961971G>A	(Likely) pathogenic	1 lab	a11f06f9f3
3:38622571 SCN5A G>A	3	38622571	38622571	G	A	SCN5A	c.3079C>T	NM_198056.2	NP_932173.1:p.(Arg1027Trp)	NC_000003.11:g.38622571G>A	VUS	1 lab	a12518415e
1:167404616 CD247 G>A	1	167404616	167404616	G	A	CD247	c.336+20C>T	NM_198053.2	NP_932170.1:p.?	NC_000001.10:g.167404616G>A	(Likely) benign	1 lab	a128c5296e
1:228559057 OBSCN G>A	1	228559057	228559057	G	A	OBSCN	c.23449G>A	NM_001271223.2	NP_001258152.2:p.(Ala7817Thr)	NC_000001.10:g.228559057G>A	(Likely) benign	1 lab	a12eb66c51
16:2168779 PKD1 G>A	16	2168779	2168779	G	A	PKD1	c.427C>T	NM_001009944.2	NP_001009944.2:p.(Gln143Ter)	NC_000016.9:g.2168779G>A	(Likely) pathogenic	1 lab	a133fb74fb
2:216251462 FN1 G>C	2	216251462	216251462	G	C	FN1	c.4562C>G	NM_212482.2	NP_997647.1:p.(Ala1521Gly)	NC_000002.11:g.216251462G>C	(Likely) benign	1 lab	a134a142d4
19:49714502 TRPM4 C>G	19	49714502	49714502	C	G	TRPM4	c.3616C>G	NM_017636.4	NP_060106.2:p.(Pro1206Ala)	NC_000019.9:g.49714502C>G	VUS	1 lab	a1383530d2
2:166930192 SCN1A G>T	2	166930192	166930192	G	T	SCN1A	c.-49-12C>A	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166930192G>T	(Likely) benign	1 lab	a138d7acc2
17:3563137 CTNS G>A	17	3563137	3563137	G	A	CTNS	c.853-15G>A	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3563137G>A	(Likely) benign	1 lab	a13936c213
4:158065038 GLRB T>C	4	158065038	158065038	T	C	GLRB	c.831T>C	NM_000824.5	NP_000815.1:p.(Thr277=)	NC_000004.11:g.158065038T>C	(Likely) benign	1 lab	d4a158e44a
11:124756529 ROBO4 A>G	11	124756529	124756529	A	G	ROBO4	c.2625T>C	NM_019055.6	NP_061928.4:p.(Asn875=)	NC_000011.9:g.124756529A>G	(Likely) benign	1 lab	a140493921
19:6710994 C3 G>A	19	6710994	6710994	G	A	C3	c.1479+4C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6710994G>A	(Likely) benign	1 lab	a14a15ee1e
8:133182560 KCNQ3 T>C	8	133182560	133182560	T	C	KCNQ3	c.1235+21A>G	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133182560T>C	(Likely) benign	1 lab	a14b45d8be
11:32456188 WT1 G>A	11	32456188	32456188	G	A	WT1				NC_000011.9:g.32456188G>A	(Likely) benign	1 lab	a14cef8b63
X:62963332 ARHGEF9 A>C	X	62963332	62963332	A	C	ARHGEF9	c.9+10852T>G	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62963332A>C	VUS	1 lab	d4a1a6b37a
4:151765894 LRBA T>C	4	151765894	151765894	T	C	LRBA	c.4377A>G	NM_001199282.2	NP_001186211.2:p.(Gln1459=)	NC_000004.11:g.151765894T>C	(Likely) benign	1 lab	a14f2dc711
21:34918579 SON G>A	21	34918579	34918579	G	A	SON	c.138G>A	NM_138927.2	NP_620305.2:p.(Ala46=)	NC_000021.8:g.34918579G>A	(Likely) benign	1 lab	a150ff476d
10:50870734 CHAT G>A	10	50870734	50870734	G	A	CHAT	c.1637G>A	NM_001142933.1	NP_001136405.1:p.(Arg546Gln)	NC_000010.10:g.50870734G>A	(Likely) benign	1 lab	a1520d0463
7:143020625 CLCN1 T>C	7	143020625	143020625	T	C	CLCN1	c.774+146T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143020625T>C	(Likely) benign	1 lab	a156223b10
9:130582177 ENG A>G	9	130582177	130582177	A	G	ENG	c.1272+2T>C	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130582177A>G	(Likely) pathogenic	1 lab	a1592ee3e6
8:143999172 CYP11B2 C>T	8	143999172	143999172	C	T	CYP11B2	c.85G>A	NM_000498.3	NP_000489.3:p.(Ala29Thr)	NC_000008.10:g.143999172C>T	(Likely) benign	1 lab	a15954e690
16:56535319 BBS2 G>A	16	56535319	56535319	G	A	BBS2	c.1171C>T	NM_031885.5	NP_114091.4:p.(Leu391=)	NC_000016.9:g.56535319G>A	(Likely) benign	1 lab	a15ca4cba5
16:2150422 PKD1 C>A	16	2150422	2150422	C	A	PKD1	c.9543G>T	NM_001009944.2	NP_001009944.2:p.(Lys3181Asn)	NC_000016.9:g.2150422C>A	(Likely) pathogenic	1 lab	a160ed683e
1:235940392 LYST T>C	1	235940392	235940392	T	C	LYST	c.5431A>G	NM_000081.3	NP_000072.2:p.(Thr1811Ala)	NC_000001.10:g.235940392T>C	(Likely) benign	1 lab	a16318a096
1:247599354 NLRP3 T>C	1	247599354	247599354	T	C	NLRP3	c.2575T>C	NM_001243133.2	NP_001230062.1:p.(Tyr859His)	NC_000001.10:g.247599354T>C	VUS	1 lab	a16337a814
11:35336644 SLC1A2 G>C	11	35336644	35336644	G	C	SLC1A2	c.236C>G	NM_004171.4	NP_004162.2:p.(Ala79Gly)	NC_000011.9:g.35336644G>C	(Likely) benign	1 lab	a16d3072ff
14:23863003 MYH6 T>C	14	23863003	23863003	T	C	MYH6	c.2800A>G	NM_002471.3	NP_002462.2:p.(Met934Val)	NC_000014.8:g.23863003T>C	VUS	1 lab	a16d503446
1:9786993 PIK3CD G>A	1	9786993	9786993	G	A	PIK3CD	c.3024G>A	NM_005026.3	NP_005017.3:p.(Glu1008=)	NC_000001.10:g.9786993G>A	(Likely) benign	1 lab	a1715f3a8b
10:14970171 DCLRE1C T>C	10	14970171	14970171	T	C	DCLRE1C	c.781-20A>G	NM_001033855.1	NP_001029027.1:p.?	NC_000010.10:g.14970171T>C	(Likely) benign	1 lab	a17358d3fd
3:128205028 GATA2 A>G	3	128205028	128205028	A	G	GATA2	c.413T>C	NM_032638.4	NP_116027.2:p.(Leu138Pro)	NC_000003.11:g.128205028A>G	(Likely) benign	1 lab	a17544f621
17:39925360 JUP C>G	17	39925360	39925360	C	G	JUP	c.568G>C	NM_002230.2	NP_002221.1:p.(Val190Leu)	NC_000017.10:g.39925360C>G	VUS	1 lab	a1757a8b89
2:202626184 ALS2 C>A	2	202626184	202626184	C	A	ALS2	c.533G>T	NM_020919.4	NP_065970.2:p.(Cys178Phe)	NC_000002.11:g.202626184C>A	VUS	1 lab	da26682409
X:99661839 PCDH19 A>T	X	99661839	99661839	A	T	PCDH19	c.1757T>A	NM_001184880.2	NP_001171809.1:p.(Leu586Gln)	NC_000023.10:g.99661839A>T	(Likely) pathogenic	1 lab	a1770d3a4d
X:123034437 XIAP G>T	X	123034437	123034437	G	T	XIAP	c.1194G>T	NM_001167.3	NP_001158.2:p.(Gln398His)	NC_000023.10:g.123034437G>T	(Likely) benign	1 lab	a17e8c3c0f
4:79442799 FRAS1 GT>G	4	79442799	79442809	GT	G	FRAS1	c.10648+25del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79442809del	(Likely) benign	1 lab	a183760f43
17:73838532 UNC13D C>T	17	73838532	73838532	C	T	UNC13D	c.551G>A	NM_199242.2	NP_954712.1:p.(Trp184Ter)	NC_000017.10:g.73838532C>T	VUS	1 lab	a185125f7c
1:5967166 NPHP4 G>A	1	5967166	5967166	G	A	NPHP4	c.1611+9C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5967166G>A	(Likely) benign	1 lab	a18c05a45a
10:101606861 ABCC2 G>T	10	101606861	101606861	G	T	ABCC2	c.4290G>T	NM_000392.5	NP_000383.2:p.(Val1430=)	NC_000010.10:g.101606861G>T	(Likely) benign	1 lab	a191158486
10:78943390 KCNMA1 T>C	10	78943390	78943390	T	C	KCNMA1	c.697-100A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78943390T>C	(Likely) benign	1 lab	a199026574
14:20915689 OSGEP AAG>A	14	20915689	20915696	AAG	A	OSGEP	c.870-12_870-11del	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20915695_20915696del	(Likely) benign	1 lab	a19991481b
3:137799420 DZIP1L G>A	3	137799420	137799420	G	A	DZIP1L	c.1277C>T	NM_173543.3	NP_775814.2:p.(Ser426Phe)	NC_000003.11:g.137799420G>A	(Likely) benign	1 lab	a19d30c384
5:169675739 LCP2 A>G	5	169675739	169675739	A	G	LCP2	c.1564T>C	NM_005565.5	NP_005556.1:p.(Tyr522His)	NC_000005.9:g.169675739A>G	(Likely) benign	1 lab	a19d89a661
20:36374919 CTNNBL1 G>C	20	36374919	36374919	G	C	CTNNBL1	c.295G>C	NM_001281495.1	NP_001268424.1:p.(Val99Leu)	NC_000020.10:g.36374919G>C	(Likely) benign	1 lab	a19d9bc339
2:179497644 TTN C>G	2	179497644	179497644	C	G	TTN	c.43213+1G>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179497644C>G	(Likely) pathogenic	1 lab	a1a8572ebb
12:66839082 GRIP1 T>C	12	66839082	66839082	T	C	GRIP1	c.1385+20A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66839082T>C	(Likely) benign	1 lab	a1aba952fb
2:191900875 STAT4 T>G	2	191900875	191900875	T	G	STAT4	c.1570+15A>C	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191900875T>G	(Likely) benign	1 lab	a1c5bf83f7
1:29386983 EPB41 AT>A	1	29386983	29386986	AT	A	EPB41	c.1997del	NM_001376013.1	NP_001362942.1:p.(Leu666Ter)	NC_000001.10:g.29386986del	(Likely) pathogenic	1 lab	a1c799a173
20:62560710 DNAJC5 G>T	20	62560710	62560710	G	T	DNAJC5	c.153G>T	NM_025219.3	NP_079495.1:p.(Pro51=)	NC_000020.10:g.62560710G>T	(Likely) benign	1 lab	a1cf9f3cad
1:53667897 CPT2 T>G	1	53667897	53667897	T	G	CPT2	c.234-98T>G	NM_000098.3	NP_000089.1:p.?	NC_000001.10:g.53667897T>G	(Likely) benign	1 lab	a1d1ddbc94
16:4386960 GLIS2 C>T	16	4386960	4386960	C	T	GLIS2	c.1010C>T	NM_032575.2	NP_115964.2:p.(Pro337Leu)	NC_000016.9:g.4386960C>T	(Likely) benign	1 lab	a1d947b110
2:166229912 SCN2A C>T	2	166229912	166229912	C	T	SCN2A	c.3972+55C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166229912C>T	(Likely) benign	1 lab	a1db59dc20
12:88474059 CEP290 T>A	12	88474059	88474059	T	A	CEP290	c.5126A>T	NM_025114.4	NP_079390.3:p.(Gln1709Leu)	NC_000012.11:g.88474059T>A	(Likely) benign	1 lab	a1db690c7c
10:16957918 CUBN G>A	10	16957918	16957918	G	A	CUBN	c.7112C>T	NM_001081.3	NP_001072.2:p.(Ser2371Phe)	NC_000010.10:g.16957918G>A	(Likely) benign	1 lab	a1df0d16bf
7:92763290 SAMD9L T>G	7	92763290	92763290	T	G	SAMD9L	c.1995A>C	NM_152703.5	NP_689916.2:p.(Thr665=)	NC_000007.13:g.92763290T>G	(Likely) benign	1 lab	a1e01b1d02
16:86544341 FOXF1 C>G	16	86544341	86544341	C	G	FOXF1	c.166C>G	NM_001451.3	NP_001442.2:p.(Leu56Val)	NC_000016.9:g.86544341C>G	(Likely) pathogenic	1 lab	a1e01ea064
20:62078308 KCNQ2 C>T	20	62078308	62078308	C	T	KCNQ2	c.297-118G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62078308C>T	(Likely) benign	1 lab	a22086259a
7:140494180 BRAF T>C	7	140494180	140494180	T	C	BRAF	c.1068A>G	NM_004333.4	NP_004324.2:p.(Gln356=)	NC_000007.13:g.140494180T>C	(Likely) benign	1 lab	a1e465c312
1:9776605 PIK3CD G>A	1	9776605	9776605	G	A	PIK3CD	c.708G>A	NM_005026.3	NP_005017.3:p.(Pro236=)	NC_000001.10:g.9776605G>A	(Likely) benign	1 lab	a1e81a6c67
6:108232620 SEC63 G>C	6	108232620	108232620	G	C	SEC63	c.574-20C>G	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108232620G>C	(Likely) benign	1 lab	a1ed068d2f
16:89857795 FANCA T>C	16	89857795	89857795	T	C	FANCA	c.1359+16A>G	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89857795T>C	(Likely) benign	1 lab	a1f0287e34
1:155269991 PKLR G>A	1	155269991	155269991	G	A	PKLR	c.181C>T	NM_000298.6	NP_000289.1:p.(Leu61=)	NC_000001.10:g.155269991G>A	(Likely) benign	1 lab	a1f28aded5
X:153296898 MECP2 G>C	X	153296898	153296898	G	C	MECP2	c.381C>G	NM_004992.3	NP_004983.1:p.(Pro127=)	NC_000023.10:g.153296898G>C	(Likely) benign	1 lab	a1f5a798f4
3:64184325 PRICKLE2 A>C	3	64184325	64184325	A	C	PRICKLE2	c.144+135T>G	NM_198859.4	NP_942559.1:p.?	NC_000003.11:g.64184325A>C	(Likely) benign	1 lab	a1f743e4a9
20:62044834 KCNQ2 T>C	20	62044834	62044834	T	C	KCNQ2	c.1732A>G	NM_172107.4	NP_742105.1:p.(Met578Val)	NC_000020.10:g.62044834T>C	(Likely) pathogenic	1 lab	a1f9caaf40
10:45430501 TMEM72 C>A	10	45430501	45430501	C	A	TMEM72	c.747C>A	NM_001123376.3	NP_001116848.1:p.(Thr249=)	NC_000010.10:g.45430501C>A	(Likely) benign	1 lab	a1fc01799a
1:235973521 LYST G>C	1	235973521	235973521	G	C	LYST	c.597C>G	NM_000081.3	NP_000072.2:p.(Asp199Glu)	NC_000001.10:g.235973521G>C	(Likely) benign	1 lab	a1fc39ef87
3:121518236 IQCB1 TA>T	3	121518236	121518246	TA	T	IQCB1	c.588-16del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121518246del	(Likely) benign	1 lab	a1fda5096a
16:75590132 TMEM231 G>T	16	75590132	75590132	G	T	TMEM231	c.38C>A	NM_001077416.2	NP_001070884.2:p.(Ser13Ter)	NC_000016.9:g.75590132G>T	(Likely) pathogenic	1 lab	a2038687b4
7:47913478 PKD1L1 GT>G	7	47913478	47913479	GT	G	PKD1L1	c.3896+18del	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47913479del	(Likely) benign	1 lab	a203d7b580
15:40583839 PLCB2 C>A	15	40583839	40583839	C	A	PLCB2	c.2615G>T	NM_004573.3	NP_004564.2:p.(Gly872Val)	NC_000015.9:g.40583839C>A	(Likely) benign	1 lab	a206380980
8:145641421 SLC39A4 G>A	8	145641421	145641421	G	A	SLC39A4	c.247C>T	NM_130849.4	NP_570901.3:p.(Pro83Ser)	NC_000008.10:g.145641421G>A	(Likely) benign	1 lab	a20ca475af
X:47466361 SYN1 A>G	X	47466361	47466361	A	G	SYN1	c.510T>C	NM_006950.3	NP_008881.2:p.(Asn170=)	NC_000023.10:g.47466361A>G	(Likely) benign	1 lab	d4a3905475
8:133186704 KCNQ3 C>T	8	133186704	133186704	C	T	KCNQ3	c.934-108G>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133186704C>T	(Likely) benign	1 lab	a20d7b4e70
X:39923059 BCOR G>A	X	39923059	39923059	G	A	BCOR	c.3547C>T	NM_017745.6	NP_060215.4:p.(Arg1183Ter)	NC_000023.10:g.39923059G>A	(Likely) pathogenic	1 lab	a20e9c7e4e
19:55451258 NLRP7 T>C	19	55451258	55451258	T	C	NLRP7	c.929A>G	NM_001127255.1	NP_001120727.1:p.(Gln310Arg)	NC_000019.9:g.55451258T>C	(Likely) benign	1 lab	a20ee94fc9
21:44839063 SIK1 C>G	21	44839063	44839063	C	G	SIK1	c.1300G>C	NM_173354.5	NP_775490.2:p.(Val434Leu)	NC_000021.8:g.44839063C>G	(Likely) benign	1 lab	a20f98061f
16:2160514 PKD1 C>T	16	2160514	2160514	C	T	PKD1	c.4654G>A	NM_001009944.2	NP_001009944.2:p.(Val1552Ile)	NC_000016.9:g.2160514C>T	(Likely) benign	1 lab	a2124109d6
1:115829252 NGF C>T	1	115829252	115829252	C	T	NGF	c.165G>A	NM_002506.2	NP_002497.2:p.(Pro55=)	NC_000001.10:g.115829252C>T	(Likely) benign	1 lab	a2177c1356
2:179474531 TTN A>C	2	179474531	179474531	A	C	TTN	c.24799T>G	NM_133432.3	NP_597676.3:p.(Tyr8267Asp)	NC_000002.11:g.179474531A>C	VUS	1 lab	a217c4a1a2
11:61533650 MYRF G>A	11	61533650	61533650	G	A	MYRF	c.355G>A	NM_001127392.3	NP_001120864.1:p.(Gly119Arg)	NC_000011.9:g.61533650G>A	VUS	1 lab	d4a4c31a86
12:49420288 KMT2D C>T	12	49420288	49420288	C	T	KMT2D	c.15461G>A	NM_003482.4	NP_003473.3:p.(Arg5154Gln)	NC_000012.11:g.49420288C>T	(Likely) pathogenic	1 lab	d4a5ac3912
4:187531122 FAT1 A>G	4	187531122	187531122	A	G	FAT1	c.9901T>C	NM_005245.4	NP_005236.2:p.(Tyr3301His)	NC_000004.11:g.187531122A>G	(Likely) benign	1 lab	a228ed48c0
18:47778134 CFAP53 C>T	18	47778134	47778134	C	T	CFAP53	c.494G>A	NM_145020.5	NP_659457.2:p.(Arg165His)	NC_000018.9:g.47778134C>T	(Likely) benign	1 lab	a22914040b
2:179458577 TTN C>CT	2	179458577	179458578	C	CT	TTN	c.58449dup	NM_001267550.1	NP_001254479.1:p.(Val19484SerfsTer5)	NC_000002.11:g.179458578dup	(Likely) pathogenic	1 lab	a229d2ca77
12:52309897 ACVRL1 A>G	12	52309897	52309897	A	G	ACVRL1	c.1126A>G	NM_000020.2	NP_000011.2:p.(Met376Val)	NC_000012.11:g.52309897A>G	(Likely) pathogenic	1 lab	a22ada81e2
14:102912302 TECPR2 C>T	14	102912302	102912302	C	T	TECPR2	c.3075+18C>T	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102912302C>T	(Likely) benign	1 lab	a22dedef1b
8:133192474 KCNQ3 C>T	8	133192474	133192474	C	T	KCNQ3	c.707G>A	NM_004519.4	NP_004510.1:p.(Arg236His)	NC_000008.10:g.133192474C>T	(Likely) pathogenic	1 lab	a2346590f5
10:27447603 MASTL C>T	10	27447603	27447603	C	T	MASTL	c.312C>T	NM_032844.5	NP_116233.2:p.(Asn104=)	NC_000010.10:g.27447603C>T	(Likely) benign	1 lab	a23598389f
19:3600204 TBXA2R G>A	19	3600204	3600204	G	A	TBXA2R	c.429C>T	NM_001060.5	NP_001051.1:p.(Val143=)	NC_000019.9:g.3600204G>A	(Likely) benign	1 lab	a2367afb09
19:17881224 FCHO1 T>C	19	17881224	17881224	T	C	FCHO1	c.337-10T>C	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17881224T>C	(Likely) benign	1 lab	a23bad2e2c
4:126373377 FAT4 A>G	4	126373377	126373377	A	G	FAT4				NC_000004.11:g.126373377A>G	(Likely) benign	1 lab	a23ef0c336
15:43512867 EPB42 T>C	15	43512867	43512867	T	C	EPB42	c.100+57A>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43512867T>C	(Likely) benign	1 lab	a2401a7fe5
16:27733003 KATNIP G>A	16	27733003	27733003	G	A	KATNIP	c.1730G>A	NM_015202.3	NP_056017.3:p.(Trp577Ter)	NC_000016.9:g.27733003G>A	(Likely) pathogenic	1 lab	a2411dd90d
5:90020747 ADGRV1 A>G	5	90020747	90020747	A	G	ADGRV1	c.9847A>G	NM_032119.4	NP_115495.3:p.(Met3283Val)	NC_000005.9:g.90020747A>G	(Likely) benign	1 lab	a24314309e
4:187541686 FAT1 G>T	4	187541686	187541686	G	T	FAT1	c.6054C>A	NM_005245.4	NP_005236.2:p.(Asn2018Lys)	NC_000004.11:g.187541686G>T	(Likely) benign	1 lab	a24428b889
11:66029275 KLC2 G>A	11	66029275	66029275	G	A	KLC2	c.291G>A	NM_022822.3	NP_073733.1:p.(Ala97=)	NC_000011.9:g.66029275G>A	(Likely) benign	1 lab	a246cabdc0
2:166226827 SCN2A T>C	2	166226827	166226827	T	C	SCN2A	c.3849+18T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166226827T>C	(Likely) benign	1 lab	a249a9f3a6
7:131191401 PODXL C>T	7	131191401	131191401	C	T	PODXL	c.1090G>A	NM_005397.4	NP_005388.2:p.(Gly364Ser)	NC_000007.13:g.131191401C>T	(Likely) benign	1 lab	a24ce7db54
15:93545599 CHD2 A>G	15	93545599	93545599	A	G	CHD2	c.4278+52A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545599A>G	(Likely) benign	1 lab	a24cede784
16:53706851 RPGRIP1L C>T	16	53706851	53706851	C	T	RPGRIP1L	c.960G>A	NM_015272.5	NP_056087.2:p.(Gln320=)	NC_000016.9:g.53706851C>T	(Likely) benign	1 lab	a24efd55df
16:2153378 PKD1 C>T	16	2153378	2153378	C	T	PKD1	c.8680G>A	NM_001009944.2	NP_001009944.2:p.(Ala2894Thr)	NC_000016.9:g.2153378C>T	(Likely) benign	1 lab	a24fe7f0a7
8:133146763 KCNQ3 AGAAGT>A	8	133146763	133146770	AGAAGT	A	KCNQ3	c.1701-133_1701-129del	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146766_133146770del	(Likely) benign	1 lab	a2516b1dc8
17:41208991 BRCA1 C>T	17	41208991	41208991	C	T	BRCA1	c.5277+78G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41208991C>T	(Likely) benign	1 lab	a2525b9803
5:125895120 ALDH7A1 G>T	5	125895120	125895120	G	T	ALDH7A1	c.914-94C>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125895120G>T	(Likely) benign	1 lab	a259174db6
X:154065925 F8 G>A	X	154065925	154065925	G	A	F8	c.7003C>T	NM_000132.3	NP_000123.1:p.(Gln2335Ter)	NC_000023.10:g.154065925G>A	(Likely) pathogenic	1 lab	a261f7363a
1:78399079 NEXN A>G	1	78399079	78399079	A	G	NEXN	c.1166A>G	NM_144573.3	NP_653174.3:p.(Glu389Gly)	NC_000001.10:g.78399079A>G	VUS	1 lab	a262a98728
8:61750834 CHD7 G>A	8	61750834	61750834	G	A	CHD7				NC_000008.10:g.61750834G>A	(Likely) benign	1 lab	a26479013b
11:125769293 HYLS1 AT>A	11	125769293	125769294	AT	A	HYLS1	c.31del	NM_001134793.2	NP_001128265.1:p.(Trp11GlyfsTer46)	NC_000011.9:g.125769294del	(Likely) pathogenic	1 lab	a267fd960c
3:148459120 AGTR1 C>T	3	148459120	148459120	C	T	AGTR1	c.403C>T	NM_031850.3	NP_114038.4:p.(Leu135=)	NC_000003.11:g.148459120C>T	(Likely) benign	1 lab	a26c6e3301
6:18122604 NHLRC1 G>A	6	18122604	18122604	G	A	NHLRC1	c.234C>T	NM_198586.3	NP_940988.2:p.(Cys78=)	NC_000006.11:g.18122604G>A	(Likely) benign	1 lab	a273b4c856
17:16855781 TNFRSF13B G>A	17	16855781	16855781	G	A	TNFRSF13B	c.178C>T	NM_012452.2	NP_036584.1:p.(Arg60Cys)	NC_000017.10:g.16855781G>A	(Likely) benign	1 lab	a2789d74d7
20:31393133 DNMT3B G>A	20	31393133	31393133	G	A	DNMT3B	c.2232-11G>A	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31393133G>A	(Likely) pathogenic	1 lab	a27a524a75
17:15164083 PMP22 G>A	17	15164083	15164083	G	A	PMP22	c.-34-5C>T	NM_000304.2	NP_000295.1:p.?	NC_000017.10:g.15164083G>A	(Likely) benign	1 lab	a27be49c82
5:52367758 ITGA2 G>A	5	52367758	52367758	G	A	ITGA2	c.2236-10G>A	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52367758G>A	(Likely) benign	1 lab	a27dcd6dda
4:120528064 PDE5A A>C	4	120528064	120528064	A	C	PDE5A	c.541T>G	NM_001083.4	NP_001074.2:p.(Ser181Ala)	NC_000004.11:g.120528064A>C	(Likely) benign	1 lab	a27fb29270
15:69713988 KIF23 T>C	15	69713988	69713988	T	C	KIF23	c.213T>C	NM_138555.4	NP_612565.1:p.(Thr71=)	NC_000015.9:g.69713988T>C	(Likely) benign	1 lab	a28221e9a7
17:80402019 CYBC1 G>A	17	80402019	80402019	G	A	CYBC1	c.444-19C>T	NM_001033046.4	NP_001028218.1:p.?	NC_000017.10:g.80402019G>A	(Likely) benign	1 lab	a2835a9b45
X:153780338 IKBKG C>G	X	153780338	153780338	C	G	IKBKG				NC_000023.10:g.153780338C>G	(Likely) benign	1 lab	a2837dcb07
8:102570816 GRHL2 G>A	8	102570816	102570816	G	A	GRHL2	c.454G>A	NM_024915.4	NP_079191.2:p.(Val152Met)	NC_000008.10:g.102570816G>A	(Likely) benign	1 lab	a285c12f5c
8:17817650 PCM1 A>C	8	17817650	17817650	A	C	PCM1	c.2168A>C	NM_006197.4	NP_006188.4:p.(Asp723Ala)	NC_000008.10:g.17817650A>C	(Likely) benign	1 lab	a285f84cb7
9:71851913 TJP2 G>A	9	71851913	71851913	G	A	TJP2	c.2040G>A	NM_004817.4	NP_004808.2:p.(Gly680=)	NC_000009.11:g.71851913G>A	(Likely) benign	1 lab	a2871f3dc1
X:31196033 DMD C>CA	X	31196033	31196040	C	CA	DMD	c.10262+15dup	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31196040dup	(Likely) benign	1 lab	a28adfbce7
19:11559732 PRKCSH C>G	19	11559732	11559732	C	G	PRKCSH	c.1269C>G	NM_002743.3	NP_002734.2:p.(Tyr423Ter)	NC_000019.9:g.11559732C>G	(Likely) pathogenic	1 lab	a28c308cfe
1:149762770 FCGR1A CTCTTTG>C	1	149762770	149762781	CTCTTTG	C	FCGR1A	c.845-17_845-12del	NM_000566.4	NP_000557.1:p.?	NC_000001.10:g.149762776_149762781del	(Likely) benign	1 lab	a28dc8564a
11:117869591 IL10RA C>T	11	117869591	117869591	C	T	IL10RA	c.972C>T	NM_001558.3	NP_001549.2:p.(Thr324=)	NC_000011.9:g.117869591C>T	(Likely) benign	1 lab	a291ff81fd
10:45430234 TMEM72 C>T	10	45430234	45430234	C	T	TMEM72	c.480C>T	NM_001123376.3	NP_001116848.1:p.(Thr160=)	NC_000010.10:g.45430234C>T	(Likely) benign	1 lab	a2930695f3
22:17584234 IL17RA T>C	22	17584234	17584234	T	C	IL17RA	c.763-150T>C	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17584234T>C	(Likely) benign	1 lab	a297f7ca25
X:154212959 F8 T>C	X	154212959	154212959	T	C	F8	c.787+3A>G	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154212959T>C	(Likely) pathogenic	1 lab	a2984a7559
X:99925879 SRPX2 C>T	X	99925879	99925879	C	T	SRPX2	c.1293C>T	NM_014467.2	NP_055282.1:p.(Tyr431=)	NC_000023.10:g.99925879C>T	(Likely) benign	1 lab	a29b77d231
16:75269703 BCAR1 G>A	16	75269703	75269703	G	A	BCAR1	c.1232C>T	NM_001170714.3	NP_001164185.1:p.(Pro411Leu)	NC_000016.9:g.75269703G>A	VUS	1 lab	a29bc27034
16:81960783 PLCG2 G>A	16	81960783	81960783	G	A	PLCG2	c.2514G>A	NM_002661.3	NP_002652.2:p.(Gln838=)	NC_000016.9:g.81960783G>A	(Likely) benign	1 lab	a29c70eed2
1:206567165 MISSING T>A	1	206567165	206567165	T	A	MISSING				NC_000001.10:g.206567165T>A	(Likely) benign	1 lab	a2d7a9feca
5:162901128 HMMR CAG>C	5	162901128	162901131	CAG	C	HMMR	c.972_973del	NM_001142556.2	NP_001136028.1:p.(Lys325ValfsTer4)	NC_000005.9:g.162901130_162901131del	VUS	1 lab	d4a6b53ed1
10:100242530 HPSE2 G>A	10	100242530	100242530	G	A	HPSE2	c.1476C>T	NM_021828.4	NP_068600.4:p.(Tyr492=)	NC_000010.10:g.100242530G>A	(Likely) benign	1 lab	a2a0cb1134
3:58508289 ACOX2 C>T	3	58508289	58508289	C	T	ACOX2	c.1566G>A	NM_003500.4	NP_003491.1:p.(Thr522=)	NC_000003.11:g.58508289C>T	(Likely) benign	1 lab	d4a81fcbc9
7:91739463 AKAP9 T>C	7	91739463	91739463	T	C	AKAP9	c.11714T>C	NM_005751.4	NP_005742.4:p.(Met3905Thr)	NC_000007.13:g.91739463T>C	(Likely) benign	1 lab	a2a93361f9
14:102496394 DYNC1H1 AGT>A	14	102496394	102496414	AGT	A	DYNC1H1	c.9763-86_9763-85del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102496413_102496414del	(Likely) benign	1 lab	a2aa457849
2:178402786 AGPS G>T	2	178402786	178402786	G	T	AGPS	c.1856-16G>T	NM_003659.4	NP_003650.1:p.?	NC_000002.11:g.178402786G>T	(Likely) benign	1 lab	d4a9d9f12e
11:66328055 ACTN3 A>G	11	66328055	66328055	A	G	ACTN3	c.1818A>G	NM_001258371.2	NP_001245300.2:p.(Thr606=)	NC_000011.9:g.66328055A>G	(Likely) benign	1 lab	a2b6df50a1
1:247587659 NLRP3 A>C	1	247587659	247587659	A	C	NLRP3	c.908A>C	NM_001243133.2	NP_001230062.1:p.(Asp303Ala)	NC_000001.10:g.247587659A>C	(Likely) pathogenic	1 lab	a2b704107a
16:1254262 CACNA1H C>T	16	1254262	1254262	C	T	CACNA1H	c.2255C>T	NM_021098.3	NP_066921.2:p.(Pro752Leu)	NC_000016.9:g.1254262C>T	(Likely) benign	1 lab	a2b87967b5
9:130588953 ENG T>C	9	130588953	130588953	T	C	ENG	c.361-2A>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130588953T>C	(Likely) pathogenic	1 lab	a2bbdfec33
14:51382683 PYGL C>A	14	51382683	51382683	C	A	PYGL	c.1099G>T	NM_002863.5	NP_002854.3:p.(Glu367Ter)	NC_000014.8:g.51382683C>A	(Likely) pathogenic	1 lab	a2bd255322
16:20360290 UMOD C>T	16	20360290	20360290	C	T	UMOD	c.333G>A	NM_003361.3	NP_003352.2:p.(Glu111=)	NC_000016.9:g.20360290C>T	(Likely) benign	1 lab	a2c25690f3
4:129869643 SCLT1 CT>C	4	129869643	129869648	CT	C	SCLT1	c.1293+7del	NM_144643.4	NP_653244.2:p.?	NC_000004.11:g.129869648del	(Likely) benign	1 lab	a2ca44c3b5
4:110662220 CFI G>A	4	110662220	110662220	G	A	CFI	c.1581C>T	NM_000204.3	NP_000195.2:p.(Gly527=)	NC_000004.11:g.110662220G>A	(Likely) benign	1 lab	a2cfd3d0cd
8:68536362 CPA6 A>C	8	68536362	68536362	A	C	CPA6	c.192+49T>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68536362A>C	(Likely) benign	1 lab	a2d2972c98
3:52486477 TNNC1 CAT>C	3	52486477	52486479	CAT	C	TNNC1	c.55+20_55+21del	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52486478_52486479del	(Likely) benign	1 lab	a2dbacbf0f
12:32975528 PKP2 G>A	12	32975528	32975528	G	A	PKP2	c.1844C>T	NM_004572.3	NP_004563.2:p.(Ser615Phe)	NC_000012.11:g.32975528G>A	(Likely) pathogenic	1 lab	a2e0540be6
X:99596857 PCDH19 T>C	X	99596857	99596857	T	C	PCDH19	c.2848+44A>G	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99596857T>C	(Likely) benign	1 lab	a2e1b69f3a
12:6443028 TNFRSF1A G>A	12	6443028	6443028	G	A	TNFRSF1A	c.197C>T	NM_001065.3	NP_001056.1:p.(Thr66Ile)	NC_000012.11:g.6443028G>A	VUS	1 lab	a2e251186e
1:3301712 PRDM16 G>T	1	3301712	3301712	G	T	PRDM16	c.439-4G>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301712G>T	VUS	1 lab	a2ed275701
11:20628700 SLC6A5 C>T	11	20628700	20628700	C	T	SLC6A5	c.811+16C>T	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20628700C>T	(Likely) benign	1 lab	a2ee188c79
16:3293604 MEFV C>T	16	3293604	3293604	C	T	MEFV	c.1883G>A	NM_000243.2	NP_000234.1:p.(Arg628Lys)	NC_000016.9:g.3293604C>T	VUS	1 lab	a2f76f221d
17:42332587 SLC4A1 A>G	17	42332587	42332587	A	G	SLC4A1	c.1878T>C	NM_000342.4	NP_000333.1:p.(Asp626=)	NC_000017.10:g.42332587A>G	(Likely) benign	1 lab	a2f880f78a
12:2800250 CACNA1C G>A	12	2800250	2800250	G	A	CACNA1C	c.6551G>A	NM_199460.3	NP_955630.3:p.(Arg2184Lys)	NC_000012.11:g.2800250G>A	VUS	1 lab	a2fa5379bc
19:36342800 NPHS1 C>T	19	36342800	36342800	C	T	NPHS1	c.-61G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36342800C>T	(Likely) benign	1 lab	a2fa61d333
17:41267761 BRCA1 C>T	17	41267761	41267761	C	T	BRCA1	c.116G>A	NM_007294.3	NP_009225.1:p.(Cys39Tyr)	NC_000017.10:g.41267761C>T	(Likely) pathogenic	1 lab	a302987529
10:21158660 NEBL A>G	10	21158660	21158660	A	G	NEBL	c.582+9T>C	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21158660A>G	(Likely) benign	1 lab	a303139e5d
1:237729972 RYR2 C>T	1	237729972	237729972	C	T	RYR2	c.3320C>T	NM_001035.3	NP_001026.2:p.(Thr1107Met)	NC_000001.10:g.237729972C>T	VUS	1 lab	a304796953
11:64361100 SLC22A12 C>T	11	64361100	64361100	C	T	SLC22A12	c.662-7C>T	NM_144585.4	NP_653186.2:p.?	NC_000011.9:g.64361100C>T	(Likely) benign	1 lab	a3066a0266
7:150644409 KCNH2 C>T	7	150644409	150644409	C	T	KCNH2	c.3152+7G>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150644409C>T	(Likely) benign	1 lab	a30b13ebf7
8:61757449 CHD7 C>T	8	61757449	61757449	C	T	CHD7	c.4877C>T	NM_017780.4	NP_060250.2:p.(Ser1626Phe)	NC_000008.10:g.61757449C>T	VUS	1 lab	d4b6ff403b
5:125929194 ALDH7A1 T>C	5	125929194	125929194	T	C	ALDH7A1	c.193-98A>G	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929194T>C	(Likely) benign	1 lab	a3118e69ba
19:41198952 COQ8B C>G	19	41198952	41198952	C	G	COQ8B	c.1210-10G>C	NM_024876.4	NP_079152.3:p.?	NC_000019.9:g.41198952C>G	(Likely) benign	1 lab	a318ee86b1
16:70305884 AARS1 G>A	16	70305884	70305884	G	A	AARS1	c.480-9C>T	NM_001605.2	NP_001596.2:p.?	NC_000016.9:g.70305884G>A	(Likely) benign	1 lab	a3197dbe24
X:49050734 SYP G>A	X	49050734	49050734	G	A	SYP	c.312C>T	NM_003179.2	NP_003170.1:p.(Ala104=)	NC_000023.10:g.49050734G>A	(Likely) benign	1 lab	a31ddf6996
11:108141868 ATM A>G	11	108141868	108141868	A	G	ATM	c.2916A>G	NM_001351834.2	NP_001338763.1:p.(Pro972=)	NC_000011.9:g.108141868A>G	(Likely) benign	1 lab	a3235b1136
17:42427046 GRN C>T	17	42427046	42427046	C	T	GRN	c.276C>T	NM_002087.4	NP_002078.1:p.(Cys92=)	NC_000017.10:g.42427046C>T	(Likely) benign	1 lab	d4be2fb993
16:3724330 TRAP1 A>G	16	3724330	3724330	A	G	TRAP1	c.1044+10T>C	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3724330A>G	(Likely) benign	1 lab	a3274b0652
2:166198758 SCN2A G>A	2	166198758	166198758	G	A	SCN2A	c.2389-48G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166198758G>A	(Likely) benign	1 lab	a3286f800b
12:133146509 FBRSL1 C>T	12	133146509	133146509	C	T	FBRSL1	c.692-3C>T	NM_001142641.2	NP_001136113.1:p.?	NC_000012.11:g.133146509C>T	(Likely) benign	1 lab	d4bf7e977b
22:50903180 SBF1 G>A	22	50903180	50903180	G	A	SBF1	c.1432-13C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50903180G>A	(Likely) benign	1 lab	a33070f7a7
2:202074207 CASP10 A>G	2	202074207	202074207	A	G	CASP10	c.1337A>G	NM_032977.3	NP_116759.2:p.(Tyr446Cys)	NC_000002.11:g.202074207A>G	(Likely) benign	1 lab	a332bc628c
15:26806341 GABRB3 TG>T	15	26806341	26806343	TG	T	GABRB3	c.836-19del	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26806343del	(Likely) benign	1 lab	a333012e4a
20:43251681 ADA G>A	20	43251681	43251681	G	A	ADA	c.645C>T	NM_000022.2	NP_000013.2:p.(Ala215=)	NC_000020.10:g.43251681G>A	(Likely) benign	1 lab	a337d80c55
11:6636431 TPP1 C>T	11	6636431	6636431	C	T	TPP1	c.1396G>A	NM_000391.4	NP_000382.3:p.(Val466Met)	NC_000011.9:g.6636431C>T	(Likely) benign	1 lab	a3404942e6
5:88025292 MEF2C T>C	5	88025292	88025292	T	C	MEF2C	c.835-128A>G	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88025292T>C	(Likely) benign	1 lab	a3415f8b7a
12:52080171 SCN8A A>C	12	52080171	52080171	A	C	SCN8A	c.415A>C	NM_014191.4	NP_055006.1:p.(Met139Leu)	NC_000012.11:g.52080171A>C	(Likely) pathogenic	1 lab	a348b2fee2
15:42680148 CAPN3 C>T	15	42680148	42680148	C	T	CAPN3	c.632+64C>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42680148C>T	(Likely) benign	1 lab	a349a6c84e
3:8787541 CAV3 G>A	3	8787541	8787541	G	A	CAV3	c.444G>A	NM_033337.2	NP_203123.1:p.(Arg148=)	NC_000003.11:g.8787541G>A	(Likely) benign	1 lab	a34a9cb4bd
16:3736154 TRAP1 G>A	16	3736154	3736154	G	A	TRAP1	c.331-17C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3736154G>A	(Likely) benign	1 lab	a34b216898
1:237838001 RYR2 G>A	1	237838001	237838001	G	A	RYR2	c.8715-30G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237838001G>A	(Likely) benign	1 lab	a35b9ba83b
1:22199925 HSPG2 G>A	1	22199925	22199925	G	A	HSPG2	c.3747-8C>T	NM_001291860.2	NP_001278789.1:p.?	NC_000001.10:g.22199925G>A	(Likely) benign	1 lab	a35d2df1e8
21:34925263 SON A>G	21	34925263	34925263	A	G	SON	c.3726A>G	NM_138927.2	NP_620305.2:p.(Ser1242=)	NC_000021.8:g.34925263A>G	(Likely) benign	1 lab	a36061815c
16:58043911 USB1 G>A	16	58043911	58043911	G	A	USB1	c.344G>A	NM_024598.3	NP_078874.2:p.(Arg115Lys)	NC_000016.9:g.58043911G>A	(Likely) benign	1 lab	a368a0adcb
17:62009538 CD79B C>G	17	62009538	62009538	C	G	CD79B	c.67+17G>C	NM_000626.4	NP_000617.1:p.?	NC_000017.10:g.62009538C>G	(Likely) benign	1 lab	a36f5d6996
3:53766093 CACNA1D G>A	3	53766093	53766093	G	A	CACNA1D	c.2517G>A	NM_000720.4	NP_000711.1:p.(Pro839=)	NC_000003.11:g.53766093G>A	(Likely) benign	1 lab	a375c24384
22:51160165 SHANK3 GC>G	22	51160165	51160168	GC	G	SHANK3	c.4132del	NM_001372044.2	NP_001358973.1:p.(Arg1378GlufsTer83)	NC_000022.10:g.51160168del	(Likely) pathogenic	1 lab	d4c35a840e
7:2963884 CARD11 C>T	7	2963884	2963884	C	T	CARD11	c.1923G>A	NM_032415.6	NP_115791.3:p.(Arg641=)	NC_000007.13:g.2963884C>T	(Likely) benign	1 lab	a37b28d00c
5:161322662 GABRA1 T>C	5	161322662	161322662	T	C	GABRA1	c.857-10T>C	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161322662T>C	(Likely) benign	1 lab	a37decf68d
16:1265098 CACNA1H C>T	16	1265098	1265098	C	T	CACNA1H	c.5039+17C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1265098C>T	(Likely) benign	1 lab	a389c9aa37
19:39204981 ACTN4 T>A	19	39204981	39204981	T	A	ACTN4	c.820-128T>A	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39204981T>A	(Likely) benign	1 lab	a38bd4997e
8:38027334 LSM1 G>A	8	38027334	38027334	G	A	LSM1	c.217C>T	NM_014462.3	NP_055277.1:p.(Leu73=)	NC_000008.10:g.38027334G>A	(Likely) benign	1 lab	a38caf4068
16:1245057 CACNA1H G>A	16	1245057	1245057	G	A	CACNA1H	c.385G>A	NM_021098.3	NP_066921.2:p.(Gly129Ser)	NC_000016.9:g.1245057G>A	(Likely) benign	1 lab	a38d6e3169
5:90072121 ADGRV1 G>A	5	90072121	90072121	G	A	ADGRV1	c.12404-149G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90072121G>A	(Likely) benign	1 lab	a38d8b139d
2:179516831 TTN G>C	2	179516831	179516831	G	C	TTN	c.39287C>G	NM_001267550.1	NP_001254479.1:p.(Pro13096Arg)	NC_000002.11:g.179516831G>C	VUS	1 lab	a38ee2feb3
12:110029108 MVK C>T	12	110029108	110029108	C	T	MVK	c.831C>T	NM_000431.2	NP_000422.1:p.(Arg277=)	NC_000012.11:g.110029108C>T	(Likely) benign	1 lab	a3936c107a
2:227967913 COL4A4 C>A	2	227967913	227967913	C	A	COL4A4	c.817G>T	NM_000092.4	NP_000083.3:p.(Gly273Cys)	NC_000002.11:g.227967913C>A	(Likely) pathogenic	1 lab	a39613d04a
15:86283483 AKAP13 G>A	15	86283483	86283483	G	A	AKAP13	c.7588G>A	NM_007200.5	NP_009131.2:p.(Glu2530Lys)	NC_000015.9:g.86283483G>A	(Likely) benign	1 lab	a3964ad442
12:52309959 ACVRL1 T>A	12	52309959	52309959	T	A	ACVRL1	c.1188T>A	NM_000020.2	NP_000011.2:p.(Thr396=)	NC_000012.11:g.52309959T>A	VUS	1 lab	a39e8d50ea
2:166903372 SCN1A G>A	2	166903372	166903372	G	A	SCN1A	c.1285C>T	NM_001165963.3	NP_001159435.1:p.(Gln429Ter)	NC_000002.11:g.166903372G>A	(Likely) pathogenic	1 lab	a3a1ae4fb0
3:132441268 NPHP3-ACAD11 T>C	3	132441268	132441268	T	C	NPHP3-ACAD11	n.36A>G	NR_037804.1		NC_000003.11:g.132441268T>C	(Likely) benign	1 lab	a3a4ff50dc
X:153760318 G6PD G>C	X	153760318	153760318	G	C	G6PD	c.1548-13C>G	NM_000402.4	NP_000393.4:p.?	NC_000023.10:g.153760318G>C	(Likely) benign	1 lab	a3a6954ab4
9:139390766 NOTCH1 G>A	9	139390766	139390766	G	A	NOTCH1	c.7425C>T	NM_017617.5	NP_060087.3:p.(Pro2475=)	NC_000009.11:g.139390766G>A	(Likely) benign	1 lab	a3aa5163c1
7:94042447 COL1A2 G>A	7	94042447	94042447	G	A	COL1A2	c.1556G>A	NM_000089.3	NP_000080.2:p.(Arg519Gln)	NC_000007.13:g.94042447G>A	VUS	1 lab	a3b1a270f0
X:100612455 BTK C>T	X	100612455	100612455	C	T	BTK	c.1177+42G>A	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100612455C>T	(Likely) benign	1 lab	a53b2ce897
9:77407650 TRPM6 G>A	9	77407650	77407650	G	A	TRPM6	c.2428C>T	NM_017662.5	NP_060132.3:p.(Leu810=)	NC_000009.11:g.77407650G>A	(Likely) benign	1 lab	a3b72d8ec5
4:4864563 MSX1 G>C	4	4864563	4864563	G	C	MSX1	c.605G>C	NM_002448.3	NP_002439.2:p.(Arg202Pro)	NC_000004.11:g.4864563G>C	VUS	1 lab	a3bf8082af
15:68506829 CLN6 A>AC	15	68506829	68506835	A	AC	CLN6	c.199-104dup	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68506835dup	(Likely) benign	1 lab	a3c1292e97
7:33192423 BBS9 C>T	7	33192423	33192423	C	T	BBS9	c.223C>T	NM_198428.3	NP_940820.1:p.(Arg75Ter)	NC_000007.13:g.33192423C>T	(Likely) pathogenic	1 lab	a3c16ffe40
3:135978092 PCCB T>C	3	135978092	135978092	T	C	PCCB	c.432+15T>C	NM_001178014.1	NP_001171485.1:p.?	NC_000003.11:g.135978092T>C	(Likely) benign	1 lab	a3c395da45
6:32806034 TAP2 G>A	6	32806034	32806034	G	A	TAP2	c.-4-20C>T	NM_000544.3	NP_000535.3:p.?	NC_000006.11:g.32806034G>A	(Likely) benign	1 lab	a3c45a9dd8
5:94884252 SKIC3 A>G	5	94884252	94884252	A	G	SKIC3	c.-2+12T>C	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94884252A>G	(Likely) benign	1 lab	a3ca918bac
5:136993804 KLHL3 T>C	5	136993804	136993804	T	C	KLHL3	c.903+16A>G	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.136993804T>C	(Likely) benign	1 lab	a3cb4cec93
6:52334333 EFHC1 A>AT	6	52334333	52334337	A	AT	EFHC1	c.1278+66dup	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52334337dup	(Likely) benign	1 lab	a3cf338cb6
4:113350387 ALPK1 C>A	4	113350387	113350387	C	A	ALPK1	c.878C>A	NM_025144.4	NP_079420.3:p.(Pro293Gln)	NC_000004.11:g.113350387C>A	(Likely) benign	1 lab	a3d05bd2c5
1:156084995 LMNA G>T	1	156084995	156084995	G	T	LMNA				NC_000001.10:g.156084995G>T	VUS	1 lab	a3d261e8bd
1:158631144 SPTA1 C>G	1	158631144	158631144	C	G	SPTA1	c.2520G>C	NM_003126.3	NP_003117.2:p.(Glu840Asp)	NC_000001.10:g.158631144C>G	(Likely) benign	1 lab	a3d3152143
13:32906897 BRCA2 C>G	13	32906897	32906897	C	G	BRCA2	c.1282C>G	NM_000059.3	NP_000050.2:p.(Leu428Val)	NC_000013.10:g.32906897C>G	(Likely) benign	1 lab	a3d7ff3458
7:143017960 CLCN1 C>G	7	143017960	143017960	C	G	CLCN1	c.433+72C>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143017960C>G	(Likely) benign	1 lab	a3d979ca19
12:2714266 CACNA1C G>A	12	2714266	2714266	G	A	CACNA1C	c.2980G>A	NM_001167623.2	NP_001161095.1:p.(Val994Met)	NC_000012.11:g.2714266G>A	VUS	1 lab	a3dc4e40e3
1:173939729 RC3H1 T>C	1	173939729	173939729	T	C	RC3H1	c.1248A>G	NM_172071.4	NP_742068.1:p.(Thr416=)	NC_000001.10:g.173939729T>C	(Likely) benign	1 lab	a3de76de05
9:126129849 CRB2 C>T	9	126129849	126129849	C	T	CRB2	c.941-3C>T	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126129849C>T	(Likely) benign	1 lab	a3e15984fc
2:74689807 MOGS T>C	2	74689807	74689807	T	C	MOGS	c.1109A>G	NM_006302.3	NP_006293.2:p.(Glu370Gly)	NC_000002.11:g.74689807T>C	(Likely) benign	1 lab	a3e3d6f778
8:100026275 VPS13B T>C	8	100026275	100026275	T	C	VPS13B	c.147+112T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100026275T>C	(Likely) benign	1 lab	a408cbc6d7
10:95987216 PLCE1 CA>C	10	95987216	95987217	CA	C	PLCE1	c.1955+9del	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.95987217del	(Likely) benign	1 lab	a3ecba59ee
9:123776132 C5 T>G	9	123776132	123776132	T	G	C5	c.2257+19A>C	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123776132T>G	(Likely) benign	1 lab	a3eda89b33
X:154221352 F8 T>C	X	154221352	154221352	T	C	F8	c.460A>G	NM_000132.3	NP_000123.1:p.(Thr154Ala)	NC_000023.10:g.154221352T>C	(Likely) pathogenic	1 lab	a3eed50174
8:61734619 CHD7 A>C	8	61734619	61734619	A	C	CHD7	c.2872A>C	NM_017780.4	NP_060250.2:p.(Ser958Arg)	NC_000008.10:g.61734619A>C	VUS	1 lab	d4ca5bb42c
1:237905571 RYR2 T>C	1	237905571	237905571	T	C	RYR2	c.11092-25T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237905571T>C	(Likely) benign	1 lab	a3f28f6409
20:61048483 GATA5 C>T	20	61048483	61048483	C	T	GATA5	c.675G>A	NM_080473.5	NP_536721.1:p.(Pro225=)	NC_000020.10:g.61048483C>T	(Likely) benign	1 lab	a3fb46f5f7
1:89473450 GBP3 T>C	1	89473450	89473450	T	C	GBP3	c.1745A>G	NM_018284.3	NP_060754.2:p.(Lys582Arg)	NC_000001.10:g.89473450T>C	(Likely) benign	1 lab	a3fbccadd6
10:16948246 CUBN T>G	10	16948246	16948246	T	G	CUBN	c.7868A>C	NM_001081.3	NP_001072.2:p.(Glu2623Ala)	NC_000010.10:g.16948246T>G	(Likely) benign	1 lab	a3fe125aa3
16:1270653 CACNA1H G>A	16	1270653	1270653	G	A	CACNA1H	c.6721G>A	NM_021098.3	NP_066921.2:p.(Gly2241Arg)	NC_000016.9:g.1270653G>A	(Likely) benign	1 lab	a401935c13
16:2550781 TBC1D24 G>A	16	2550781	2550781	G	A	TBC1D24	c.1526-24G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2550781G>A	(Likely) benign	1 lab	a40be973a2
16:3707070 DNASE1 C>G	16	3707070	3707070	C	G	DNASE1	c.507C>G	NM_005223.3	NP_005214.2:p.(Leu169=)	NC_000016.9:g.3707070C>G	(Likely) benign	1 lab	a40cc279c4
18:34182617 FHOD3 G>T	18	34182617	34182617	G	T	FHOD3	c.719-20G>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34182617G>T	(Likely) benign	1 lab	a412cb9ef7
2:216300472 FN1 C>G	2	216300472	216300472	C	G	FN1	c.54G>C	NM_212482.2	NP_997647.1:p.(Gly18=)	NC_000002.11:g.216300472C>G	(Likely) benign	1 lab	a413637e85
14:23871693 MYH6 G>A	14	23871693	23871693	G	A	MYH6	c.1121C>T	NM_002471.3	NP_002462.2:p.(Ala374Val)	NC_000014.8:g.23871693G>A	VUS	1 lab	a416525ab6
11:64574650 MEN1 C>T	11	64574650	64574650	C	T	MEN1	c.839+1G>A	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64574650C>T	(Likely) pathogenic	1 lab	a41798c246
12:56737256 STAT2 C>A	12	56737256	56737256	C	A	STAT2	c.2473G>T	NM_005419.4	NP_005410.1:p.(Gly825Cys)	NC_000012.11:g.56737256C>A	(Likely) benign	1 lab	a418baf8f6
4:110663747 CFI G>A	4	110663747	110663747	G	A	CFI	c.1458C>T	NM_001318057.2	NP_001304986.2:p.(Asn486=)	NC_000004.11:g.110663747G>A	(Likely) benign	1 lab	a41aba4488
1:151787166 RORC G>C	1	151787166	151787166	G	C	RORC	c.817C>G	NM_005060.4	NP_005051.2:p.(Leu273Val)	NC_000001.10:g.151787166G>C	(Likely) benign	1 lab	a41c2078fe
17:26108214 NOS2 C>T	17	26108214	26108214	C	T	NOS2	c.723-11G>A	NM_000625.4	NP_000616.3:p.?	NC_000017.10:g.26108214C>T	(Likely) benign	1 lab	a41ed4c6d2
14:105211129 ADSS1 G>A	14	105211129	105211129	G	A	ADSS1	c.1203-20G>A	NM_199165.2	NP_954634.1:p.?	NC_000014.8:g.105211129G>A	(Likely) benign	1 lab	a4228f5093
3:49570163 DAG1 A>G	3	49570163	49570163	A	G	DAG1	c.2219A>G	NM_001165928.3	NP_001159400.2:p.(Asp740Gly)	NC_000003.11:g.49570163A>G	(Likely) benign	1 lab	a424cfd1a4
2:179455826 TTN A>G	2	179455826	179455826	A	G	TTN	c.33806T>C	NM_133432.3	NP_597676.3:p.(Val11269Ala)	NC_000002.11:g.179455826A>G	VUS	1 lab	a42d148fec
12:22001094 ABCC9 G>A	12	22001094	22001094	G	A	ABCC9	c.2856C>T	NM_020297.2	NP_064693.2:p.(Asp952=)	NC_000012.11:g.22001094G>A	(Likely) benign	1 lab	a436318866
6:102337505 GRIK2 C>G	6	102337505	102337505	C	G	GRIK2	c.1525-10C>G	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102337505C>G	VUS	1 lab	a43a15f570
8:41552826 ANK1 T>G	8	41552826	41552826	T	G	ANK1	c.3107A>C	NM_001142446.2	NP_001135918.1:p.(His1036Pro)	NC_000008.10:g.41552826T>G	(Likely) pathogenic	1 lab	a4414b618f
2:86258721 POLR1A C>T	2	86258721	86258721	C	T	POLR1A	c.4310G>A	NM_015425.6	NP_056240.2:p.(Gly1437Asp)	NC_000002.11:g.86258721C>T	(Likely) benign	1 lab	a46434a064
16:2140780 PKD1 C>G	16	2140780	2140780	C	G	PKD1	c.12033G>C	NM_001009944.3	NP_001009944.3:p.(Gln4011His)	NC_000016.9:g.2140780C>G	VUS	1 lab	d4cedc479b
5:52377403 ITGA2 G>A	5	52377403	52377403	G	A	ITGA2	c.3040-19G>A	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52377403G>A	(Likely) benign	1 lab	a4464d8236
5:90046256 ADGRV1 C>A	5	90046256	90046256	C	A	ADGRV1	c.10975-112C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90046256C>A	(Likely) benign	1 lab	a449080d5a
3:10183787 VHL C>A	3	10183787	10183787	C	A	VHL	c.256C>A	NM_000551.3	NP_000542.1:p.(Pro86Thr)	NC_000003.11:g.10183787C>A	(Likely) pathogenic	1 lab	a44aebd4c7
1:209974685 IRF6 C>A	1	209974685	209974685	C	A	IRF6	c.74G>T	NM_006147.4	NP_006138.1:p.(Gly25Val)	NC_000001.10:g.209974685C>A	(Likely) pathogenic	1 lab	a44c0b8e78
15:51240316 AP4E1 A>G	15	51240316	51240316	A	G	AP4E1	c.1051A>G	NM_001252127.2	NP_001239056.1:p.(Ile351Val)	NC_000015.9:g.51240316A>G	VUS	1 lab	a44f9b84f7
15:57918041 MYZAP G>A	15	57918041	57918041	G	A	MYZAP	c.476G>A	NM_001018100.5	NP_001018110.1:p.(Arg159His)	NC_000015.9:g.57918041G>A	(Likely) benign	1 lab	a45277e92f
10:98002522 BLNK A>T	10	98002522	98002522	A	T	BLNK	c.132T>A	NM_013314.3	NP_037446.1:p.(Pro44=)	NC_000010.10:g.98002522A>T	(Likely) benign	1 lab	a456f380d7
5:176936646 DDX41 C>T	5	176936646	176936646	C	T	DDX41				NC_000005.9:g.176936646C>T	(Likely) benign	1 lab	a56af2dfc3
18:12720588 PSMG2 A>T	18	12720588	12720588	A	T	PSMG2	c.487A>T	NM_020232.5	NP_064617.2:p.(Met163Leu)	NC_000018.9:g.12720588A>T	(Likely) benign	1 lab	a464829598
2:179442329 TTN C>CA	2	179442329	179442330	C	CA	TTN	c.68823_68824insT	NM_001267550.1	NP_001254479.1:p.(Glu22942Ter)	NC_000002.11:g.179442329_179442330insA	(Likely) pathogenic	1 lab	a466dcdc7c
7:138417596 ATP6V0A4 TA>T	7	138417596	138417609	TA	T	ATP6V0A4	c.1908+25del	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138417609del	(Likely) benign	1 lab	a468d921ee
5:14488104 TRIO C>T	5	14488104	14488104	C	T	TRIO	c.7367C>T	NM_007118.4	NP_009049.2:p.(Pro2456Leu)	NC_000005.9:g.14488104C>T	(Likely) benign	1 lab	a46900a88f
1:155264148 PKLR C>T	1	155264148	155264148	C	T	PKLR	c.994G>A	NM_000298.6	NP_000289.1:p.(Gly332Ser)	NC_000001.10:g.155264148C>T	(Likely) pathogenic	1 lab	a47b442e7d
4:79158843 FRAS1 G>T	4	79158843	79158843	G	T	FRAS1	c.216+72G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79158843G>T	(Likely) benign	1 lab	a47d22748a
12:7187848 C1R C>T	12	7187848	7187848	C	T	C1R	c.2148G>A	NM_001354346.2	NP_001341275.1:p.(Glu716=)	NC_000012.11:g.7187848C>T	(Likely) benign	1 lab	a480363f80
8:145541196 DGAT1 T>G	8	145541196	145541196	T	G	DGAT1	c.981+11A>C	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145541196T>G	(Likely) benign	1 lab	a481eafc4a
7:151329157 PRKAG2 T>C	7	151329157	151329157	T	C	PRKAG2	c.752A>G	NM_016203.4	NP_057287.2:p.(Glu251Gly)	NC_000007.13:g.151329157T>C	(Likely) benign	1 lab	a4827ba628
15:93541860 CHD2 G>A	15	93541860	93541860	G	A	CHD2	c.4008+9G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93541860G>A	(Likely) benign	1 lab	a482941619
19:6682115 C3 C>A	19	6682115	6682115	C	A	C3	c.4260+38G>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6682115C>A	(Likely) benign	1 lab	a483084082
18:28666526 DSC2 T>A	18	28666526	28666526	T	A	DSC2	c.942+13A>T	NM_004949.3	NP_004940.1:p.?	NC_000018.9:g.28666526T>A	(Likely) benign	1 lab	a485630b7a
1:158596671 SPTA1 G>A	1	158596671	158596671	G	A	SPTA1	c.5791C>T	NM_003126.3	NP_003117.2:p.(Gln1931Ter)	NC_000001.10:g.158596671G>A	(Likely) pathogenic	1 lab	a48916d361
22:17583212 IL17RA C>T	22	17583212	17583212	C	T	IL17RA	c.762+20C>T	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17583212C>T	(Likely) benign	1 lab	a48b13191d
1:198687340 PTPRC A>T	1	198687340	198687340	A	T	PTPRC	c.1568A>T	NM_002838.5	NP_002829.3:p.(Glu523Val)	NC_000001.10:g.198687340A>T	(Likely) benign	1 lab	a48d074d56
5:90024394 ADGRV1 A>T	5	90024394	90024394	A	T	ADGRV1	c.10162-92A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90024394A>T	(Likely) benign	1 lab	a48f1c005c
19:18193068 IL12RB1 G>A	19	18193068	18193068	G	A	IL12RB1	c.131C>T	NM_005535.1	NP_005526.1:p.(Ala44Val)	NC_000019.9:g.18193068G>A	(Likely) benign	1 lab	a4915c3f99
19:39062759 RYR1 C>A	19	39062759	39062759	C	A	RYR1	c.13847C>A	NM_000540.2	NP_000531.2:p.(Ala4616Asp)	NC_000019.9:g.39062759C>A	(Likely) benign	1 lab	a4918f268e
3:39226127 XIRP1 C>T	3	39226127	39226127	C	T	XIRP1	c.4810G>A	NM_194293.4	NP_919269.2:p.(Gly1604Arg)	NC_000003.11:g.39226127C>T	(Likely) benign	1 lab	a492293294
6:39867968 DAAM2 A>G	6	39867968	39867968	A	G	DAAM2	c.2795A>G	NM_001201427.2	NP_001188356.1:p.(Asn932Ser)	NC_000006.11:g.39867968A>G	(Likely) benign	1 lab	a492afd4fd
6:33406592 SYNGAP1 C>A	6	33406592	33406592	C	A	SYNGAP1	c.1572C>A	NM_006772.3	NP_006763.2:p.(Cys524Ter)	NC_000006.11:g.33406592C>A	(Likely) pathogenic	1 lab	a495f77c30
15:59445896 MYO1E G>A	15	59445896	59445896	G	A	MYO1E	c.2973C>T	NM_004998.3	NP_004989.2:p.(Ser991=)	NC_000015.9:g.59445896G>A	(Likely) benign	1 lab	a4962496e3
2:179413187 TTN G>A	2	179413187	179413187	G	A	TTN	c.66346C>T	NM_133432.3	NP_597676.3:p.(Arg22116Ter)	NC_000002.11:g.179413187G>A	(Likely) pathogenic	1 lab	a49709ba13
8:144991113 PLEC C>T	8	144991113	144991113	C	T	PLEC	c.13287G>A	NM_201380.4	NP_958782.1:p.(Val4429=)	NC_000008.10:g.144991113C>T	(Likely) benign	1 lab	a498bffe25
2:48010463 MSH6 G>T	2	48010463	48010463	G	T	MSH6	c.91G>T	NM_000179.2	NP_000170.1:p.(Gly31Cys)	NC_000002.11:g.48010463G>T	VUS	1 lab	a49a24297e
12:21981883 ABCC9 T>C	12	21981883	21981883	T	C	ABCC9	c.3669+9A>G	NM_005691.2	NP_005682.2:p.?	NC_000012.11:g.21981883T>C	(Likely) benign	1 lab	a49db1a1e5
17:17697396 RAI1 C>T	17	17697396	17697396	C	T	RAI1	c.1134C>T	NM_030665.4	NP_109590.3:p.(Ser378=)	NC_000017.10:g.17697396C>T	(Likely) benign	1 lab	a49e7a2b9d
10:81925866 ANXA11 T>C	10	81925866	81925866	T	C	ANXA11	c.832A>G	NM_001157.3	NP_001148.1:p.(Ile278Val)	NC_000010.10:g.81925866T>C	(Likely) benign	1 lab	a4a0cfbeb4
9:131371396 SPTAN1 T>G	9	131371396	131371396	T	G	SPTAN1	c.4596-5T>G	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131371396T>G	(Likely) benign	1 lab	a4a3f1c0f3
11:75480125 DGAT2 C>T	11	75480125	75480125	C	T	DGAT2	c.89C>T	NM_032564.5	NP_115953.2:p.(Pro30Leu)	NC_000011.9:g.75480125C>T	(Likely) benign	1 lab	a4ad5f5968
3:3186299 TRNT1 T>C	3	3186299	3186299	T	C	TRNT1	c.513T>C	NM_182916.3	NP_886552.3:p.(Asn171=)	NC_000003.11:g.3186299T>C	(Likely) benign	1 lab	a4aedea5c5
1:247587589 NLRP3 G>A	1	247587589	247587589	G	A	NLRP3	c.838G>A	NM_001243133.2	NP_001230062.1:p.(Asp280Asn)	NC_000001.10:g.247587589G>A	VUS	1 lab	a4af749ef7
14:23887627 MYH7 T>G	14	23887627	23887627	T	G	MYH7	c.3973-12A>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23887627T>G	(Likely) benign	1 lab	a4b614deff
8:86389489 CA2 C>T	8	86389489	86389489	C	T	CA2	c.648C>T	NM_000067.3	NP_000058.1:p.(Ser216=)	NC_000008.10:g.86389489C>T	(Likely) benign	1 lab	a4b69b46d6
7:2966441 CARD11 GA>G	7	2966441	2966442	GA	G	CARD11	c.1755-17del	NM_032415.7	NP_115791.3:p.?	NC_000007.13:g.2966442del	(Likely) benign	1 lab	a4b922d70f
15:59494620 MYO1E AAG>A	15	59494620	59494625	AAG	A	MYO1E	c.1617-16_1617-15del	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59494624_59494625del	(Likely) benign	1 lab	a4bc109ade
16:56920939 SLC12A3 G>GATCAAGGCCTTCTACTCGGATGTC	16	56920939	56920965	G	GATCAAGGCCTTCTACTCGGATGTC	SLC12A3	c.2115_2138dup	NM_000339.3	NP_000330.3:p.(Lys706_Ile713dup)	NC_000016.9:g.56920942_56920965dup	(Likely) pathogenic	1 lab	a4bddbe1bf
8:100493904 VPS13B A>G	8	100493904	100493904	A	G	VPS13B	c.3744A>G	NM_017890.4	NP_060360.3:p.(Leu1248=)	NC_000008.10:g.100493904A>G	(Likely) benign	1 lab	a4c34cead9
5:161525053 GABRG2 T>G	5	161525053	161525053	T	G	GABRG2				NC_000005.9:g.161525053T>G	(Likely) benign	1 lab	a4c5bf2aee
4:187004614 TLR3 G>A	4	187004614	187004614	G	A	TLR3	c.1774G>A	NM_003265.2	NP_003256.1:p.(Asp592Asn)	NC_000004.11:g.187004614G>A	(Likely) benign	1 lab	a4c6866709
X:25033707 ARX A>G	X	25033707	25033707	A	G	ARX	c.148T>C	NM_139058.3	NP_620689.1:p.(Leu50=)	NC_000023.10:g.25033707A>G	(Likely) benign	1 lab	a4c6970d84
X:53644419 HUWE1 T>G	X	53644419	53644419	T	G	HUWE1	c.1673-12A>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53644419T>G	(Likely) benign	1 lab	a4c74609ba
7:124537277 POT1 AAAAG>A	7	124537277	124537287	AAAAG	A	POT1	c.-39-15_-39-12del	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124537284_124537287del	(Likely) benign	1 lab	a4c8a1043c
11:67815373 TCIRG1 G>A	11	67815373	67815373	G	A	TCIRG1				NC_000011.9:g.67815373G>A	(Likely) benign	1 lab	a4cbee1f9a
20:42815341 JPH2 C>T	20	42815341	42815341	C	T	JPH2	c.5G>A	NM_020433.4	NP_065166.2:p.(Ser2Asn)	NC_000020.10:g.42815341C>T	(Likely) benign	1 lab	a4cd8bad97
1:22213832 HSPG2 G>A	1	22213832	22213832	G	A	HSPG2	c.959-5C>T	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22213832G>A	(Likely) benign	1 lab	a4cf967de4
10:43620367 RET G>A	10	43620367	43620367	G	A	RET	c.2976G>A	NM_020975.4	NP_066124.1:p.(Pro992=)	NC_000010.10:g.43620367G>A	(Likely) benign	1 lab	a4d00a7e17
4:126329733 FAT4 C>T	4	126329733	126329733	C	T	FAT4				NC_000004.11:g.126329733C>T	(Likely) pathogenic	1 lab	a4daf1ebab
11:64950441 CAPN1 T>C	11	64950441	64950441	T	C	CAPN1	c.267+2T>C	NM_005186.4	NP_005177.2:p.?	NC_000011.9:g.64950441T>C	(Likely) pathogenic	1 lab	a4db3b1b5d
16:28943415 CD19 T>C	16	28943415	28943415	T	C	CD19	c.88+6T>C	NM_001770.5	NP_001761.3:p.?	NC_000016.9:g.28943415T>C	(Likely) benign	1 lab	a4dfcaaefa
X:154221366 F8 G>A	X	154221366	154221366	G	A	F8	c.446C>T	NM_000132.3	NP_000123.1:p.(Pro149Leu)	NC_000023.10:g.154221366G>A	VUS	1 lab	a4e00122d5
X:119670894 CUL4B A>G	X	119670894	119670894	A	G	CUL4B	c.1993-5T>C	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119670894A>G	(Likely) benign	1 lab	a4e1c89566
6:47471022 CD2AP A>G	6	47471022	47471022	A	G	CD2AP	c.11A>G	NM_012120.3	NP_036252.1:p.(Tyr4Cys)	NC_000006.11:g.47471022A>G	VUS	1 lab	a4e4da7dbd
16:2105537 TSC2 G>C	16	2105537	2105537	G	C	TSC2	c.599+17G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105537G>C	(Likely) benign	1 lab	a4e7173f1c
6:32056625 TNXB C>A	6	32056625	32056625	C	A	TNXB	c.2716G>T	NM_019105.8	NP_061978.6:p.(Val906Leu)	NC_000006.11:g.32056625C>A	(Likely) benign	1 lab	a4e8085b0d
2:225376058 CUL3 C>G	2	225376058	225376058	C	G	CUL3	c.883+13G>C	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225376058C>G	(Likely) benign	1 lab	a4eebe1626
9:130435223 STXBP1 T>A	9	130435223	130435223	T	A	STXBP1	c.1030-237T>A	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130435223T>A	(Likely) benign	1 lab	a4f7f59a0b
2:179417885 TTN T>C	2	179417885	179417885	T	C	TTN	c.89742A>G	NM_001267550.2	NP_001254479.2:p.(Ile29914Met)	NC_000002.11:g.179417885T>C	VUS	1 lab	d4cfe9ff78
19:49713974 TRPM4 CCTTT>C	19	49713974	49713980	CCTTT	C	TRPM4	c.3339_3342del	NM_017636.4	NP_060106.2:p.(Ser1114ArgfsTer8)	NC_000019.9:g.49713977_49713980del	VUS	1 lab	a4fb64386d
9:131670840 LRRC8A C>T	9	131670840	131670840	C	T	LRRC8A	c.1397C>T	NM_019594.4	NP_062540.2:p.(Ala466Val)	NC_000009.11:g.131670840C>T	VUS	1 lab	d4d213f996
4:647941 PDE6B C>T	4	647941	647941	C	T	PDE6B	c.925C>T	NM_000283.4	NP_000274.3:p.(Arg309Trp)	NC_000004.11:g.647941C>T	VUS	1 lab	d4d555ea7b
16:2548281 TBC1D24 G>A	16	2548281	2548281	G	A	TBC1D24	c.1026G>A	NM_001199107.2	NP_001186036.1:p.(Ser342=)	NC_000016.9:g.2548281G>A	(Likely) benign	1 lab	a51070a865
17:41222828 BRCA1 T>A	17	41222828	41222828	T	A	BRCA1	c.4986+117A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41222828T>A	(Likely) benign	1 lab	a511162f2e
2:189862979 COL3A1 T>C	2	189862979	189862979	T	C	COL3A1	c.1924-13T>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189862979T>C	(Likely) benign	1 lab	a5180f2de6
X:119679381 CUL4B GA>G	X	119679381	119679390	GA	G	CUL4B	c.847-10del	NM_001079872.2	NP_001073341.1:p.?	NC_000023.10:g.119679390del	(Likely) benign	1 lab	a5186d26b4
X:1407415 CSF2RA A>G	X	1407415	1407415	A	G	CSF2RA	c.223A>G	NM_001161530.1	NP_001155002.1:p.(Ser75Gly)	NC_000023.10:g.1407415A>G	(Likely) benign	1 lab	a522aafbc9
18:59749772 PIGN A>G	18	59749772	59749772	A	G	PIGN	c.2576+134T>C	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59749772A>G	(Likely) benign	1 lab	a526a64fb9
7:55223604 EGFR G>A	7	55223604	55223604	G	A	EGFR	c.971G>A	NM_005228.5	NP_005219.2:p.(Arg324His)	NC_000007.13:g.55223604G>A	VUS	1 lab	d4d83b2a2c
11:67817244 TCIRG1 G>A	11	67817244	67817244	G	A	TCIRG1				NC_000011.9:g.67817244G>A	(Likely) benign	1 lab	a531361b1c
11:64573722 MEN1 G>C	11	64573722	64573722	G	C	MEN1	c.1046C>G	NM_000244.3	NP_000235.2:p.(Thr349Arg)	NC_000011.9:g.64573722G>C	(Likely) pathogenic	1 lab	a532e342fe
3:64142981 PRICKLE2 C>T	3	64142981	64142981	C	T	PRICKLE2	c.457G>A	NM_198859.4	NP_942559.1:p.(Val153Ile)	NC_000003.11:g.64142981C>T	(Likely) benign	1 lab	a5334a3452
12:110019277 MVK CGGTG>C	12	110019277	110019281	CGGTG	C	MVK	c.450_453del	NM_000431.4	NP_000422.1:p.(Cys152TrpfsTer6)	NC_000012.11:g.110019278_110019281del	(Likely) pathogenic	1 lab	a533ff6a6b
19:46269827 SIX5 T>A	19	46269827	46269827	T	A	SIX5	c.1390A>T	NM_175875.4	NP_787071.2:p.(Thr464Ser)	NC_000019.9:g.46269827T>A	(Likely) benign	1 lab	a53cb97bb3
2:179418740 TTN C>A	2	179418740	179418740	C	A	TTN	c.89098G>T	NM_001267550.1	NP_001254479.1:p.(Glu29700Ter)	NC_000002.11:g.179418740C>A	(Likely) pathogenic	1 lab	a53ce2e528
3:181430494 SOX2 A>T	3	181430494	181430494	A	T	SOX2	c.346A>T	NM_003106.4	NP_003097.1:p.(Thr116Ser)	NC_000003.11:g.181430494A>T	VUS	1 lab	d4d8b4a1d9
19:12776514 MAN2B1 C>G	19	12776514	12776514	C	G	MAN2B1	c.262+3G>C	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12776514C>G	(Likely) pathogenic	1 lab	a53e711d5f
7:78256443 MAGI2 A>G	7	78256443	78256443	A	G	MAGI2	c.531T>C	NM_012301.4	NP_036433.2:p.(Thr177=)	NC_000007.13:g.78256443A>G	(Likely) benign	1 lab	a542dbb956
X:133624220 HPRT1 T>A	X	133624220	133624220	T	A	HPRT1	c.387T>A	NM_000194.3	NP_000185.1:p.(Asn129Lys)	NC_000023.10:g.133624220T>A	(Likely) pathogenic	1 lab	a5440ce485
18:2922034 LPIN2 C>T	18	2922034	2922034	C	T	LPIN2	c.2327+11G>A	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2922034C>T	(Likely) benign	1 lab	a5441f7ee3
9:14848928 FREM1 T>C	9	14848928	14848928	T	C	FREM1	c.1153-157A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14848928T>C	(Likely) benign	1 lab	a5473669f1
17:7127462 ACADVL T>C	17	7127462	7127462	T	C	ACADVL	c.1207-3T>C	NM_001270448.1	NP_001257377.1:p.?	NC_000017.10:g.7127462T>C	(Likely) benign	1 lab	a548bed129
6:52317597 EFHC1 T>C	6	52317597	52317597	T	C	EFHC1	c.685T>C	NM_018100.4	NP_060570.2:p.(Phe229Leu)	NC_000006.11:g.52317597T>C	(Likely) benign	1 lab	a548cba510
16:2154487 PKD1 G>A	16	2154487	2154487	G	A	PKD1	c.8161+12C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2154487G>A	(Likely) benign	1 lab	a54999995e
1:20974999 PINK1 C>T	1	20974999	20974999	C	T	PINK1	c.1125C>T	NM_032409.3	NP_115785.1:p.(Asp375=)	NC_000001.10:g.20974999C>T	(Likely) benign	1 lab	d4e4ddd3ec
11:62400713 GANAB C>G	11	62400713	62400713	C	G	GANAB	c.727G>C	NM_198335.4	NP_938149.2:p.(Asp243His)	NC_000011.9:g.62400713C>G	VUS	1 lab	a68f0fbf29
5:176918903 PDLIM7 A>C	5	176918903	176918903	A	C	PDLIM7	c.303T>G	NM_005451.5	NP_005442.2:p.(Pro101=)	NC_000005.9:g.176918903A>C	(Likely) benign	1 lab	a54c7f2b14
9:138662895 KCNT1 C>T	9	138662895	138662895	C	T	KCNT1	c.1962C>T	NM_020822.2	NP_065873.2:p.(His654=)	NC_000009.11:g.138662895C>T	(Likely) benign	1 lab	a550d1c12f
10:72357635 PRF1 A>G	10	72357635	72357635	A	G	PRF1	c.*174T>C	NM_005041.5	NP_005032.2:p.?	NC_000010.10:g.72357635A>G	(Likely) benign	1 lab	a552878403
1:247586336 NLRP3 T>C	1	247586336	247586336	T	C	NLRP3	c.278-196T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247586336T>C	(Likely) benign	1 lab	a552b6505f
12:98927469 TMPO G>C	12	98927469	98927469	G	C	TMPO	c.1434G>C	NM_003276.2	NP_003267.1:p.(Lys478Asn)	NC_000012.11:g.98927469G>C	(Likely) benign	1 lab	a558077a6f
22:20785129 SCARF2 G>A	22	20785129	20785129	G	A	SCARF2	c.921C>T	NM_153334.7	NP_699165.3:p.(Pro307=)	NC_000022.10:g.20785129G>A	(Likely) benign	1 lab	a558fbc9bd
2:231033864 SP110 G>A	2	231033864	231033864	G	A	SP110	c.2046C>T	NM_004509.4	NP_004500.4:p.(Asp682=)	NC_000002.11:g.231033864G>A	(Likely) benign	1 lab	a55b113d45
2:108622833 SLC5A7 AT>A	2	108622833	108622855	AT	A	SLC5A7	c.895+197del	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108622855del	(Likely) benign	1 lab	a55da453de
18:47787622 CFAP53 CAAA>C	18	47787622	47787641	CAAA	C	CFAP53	c.300-18_300-16del	NM_145020.5	NP_659457.2:p.?	NC_000018.9:g.47787639_47787641del	(Likely) benign	1 lab	a55e742774
2:166165361 SCN2A T>A	2	166165361	166165361	T	A	SCN2A	c.605+57T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166165361T>A	(Likely) benign	1 lab	a56c62d02e
6:33631598 ITPR3 C>T	6	33631598	33631598	C	T	ITPR3	c.1089C>T	NM_002224.3	NP_002215.2:p.(Ile363=)	NC_000006.11:g.33631598C>T	(Likely) benign	1 lab	a56c68a6fb
18:59712920 PIGN G>GA	18	59712920	59712922	G	GA	PIGN	c.*168dup	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59712922dup	(Likely) benign	1 lab	a56d7c1eb4
22:19865644 TXNRD2 C>T	22	19865644	19865644	C	T	TXNRD2	c.1411G>A	NM_001352300.2	NP_001339229.1:p.(Glu471Lys)	NC_000022.10:g.19865644C>T	VUS	1 lab	d4e6592bc9
2:166848862 SCN1A A>G	2	166848862	166848862	A	G	SCN1A	c.4923T>C	NM_001165963.3	NP_001159435.1:p.(Ala1641=)	NC_000002.11:g.166848862A>G	(Likely) benign	1 lab	a5737f9720
1:40724074 ZMPSTE24 T>C	1	40724074	40724074	T	C	ZMPSTE24				NC_000001.10:g.40724074T>C	(Likely) benign	1 lab	a5743dbd9e
22:32151132 DEPDC5 C>T	22	32151132	32151132	C	T	DEPDC5	c.58+167C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32151132C>T	(Likely) benign	1 lab	a57b12d23f
1:27876864 AHDC1 C>A	1	27876864	27876864	C	A	AHDC1	c.1763G>T	NM_001029882.3	NP_001025053.1:p.(Arg588Leu)	NC_000001.10:g.27876864C>A	VUS	1 lab	d4e6dca44c
14:65241867 SPTB G>A	14	65241867	65241867	G	A	SPTB	c.4818C>T	NM_001024858.3	NP_001020029.1:p.(Tyr1606=)	NC_000014.8:g.65241867G>A	(Likely) benign	1 lab	a57d655016
2:166852549 SCN1A G>GT	2	166852549	166852555	G	GT	SCN1A	c.4554dup	NM_001165963.3	NP_001159435.1:p.(Pro1519ThrfsTer18)	NC_000002.11:g.166852555dup	(Likely) pathogenic	1 lab	a57e225bac
6:18122692 NHLRC1 A>G	6	18122692	18122692	A	G	NHLRC1	c.146T>C	NM_198586.3	NP_940988.2:p.(Val49Ala)	NC_000006.11:g.18122692A>G	VUS	1 lab	a583315d94
1:205138976 DSTYK G>A	1	205138976	205138976	G	A	DSTYK	c.655-16C>T	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205138976G>A	(Likely) benign	1 lab	a583d0ed1c
2:179563659 TTN G>GA	2	179563659	179563668	G	GA	TTN	c.30683-19dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179563668dup	(Likely) benign	1 lab	a584e87ee1
12:23999061 SOX5 C>T	12	23999061	23999061	C	T	SOX5	c.337G>A	NM_006940.6	NP_008871.3:p.(Ala113Thr)	NC_000012.11:g.23999061C>T	VUS	1 lab	d4e825c632
13:32937487 BRCA2 G>T	13	32937487	32937487	G	T	BRCA2	c.8148G>T	NM_000059.3	NP_000050.2:p.(Val2716=)	NC_000013.10:g.32937487G>T	(Likely) benign	1 lab	a5867e55aa
17:61566402 ACE C>G	17	61566402	61566402	C	G	ACE	c.2550C>G	NM_000789.4	NP_000780.1:p.(Leu850=)	NC_000017.10:g.61566402C>G	(Likely) benign	1 lab	a5897f1091
20:398039 RBCK1 TTG>T	20	398039	398067	TTG	T	RBCK1	c.168-104_168-103del	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.398066_398067del	(Likely) benign	1 lab	a58f06f6ec
15:45007776 B2M T>G	15	45007776	45007776	T	G	B2M	c.223T>G	NM_004048.3	NP_004039.1:p.(Ser75Ala)	NC_000015.9:g.45007776T>G	(Likely) benign	1 lab	a59229cbd5
11:62594845 STX5 T>A	11	62594845	62594845	T	A	STX5	c.322A>T	NM_001244666.2	NP_001231595.1:p.(Thr108Ser)	NC_000011.9:g.62594845T>A	VUS	1 lab	a592b1faf6
12:6442329 TNFRSF1A C>T	12	6442329	6442329	C	T	TNFRSF1A	c.473-16G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442329C>T	(Likely) benign	1 lab	a593982b7f
15:89867103 POLG C>T	15	89867103	89867103	C	T	POLG	c.2100G>A	NM_002693.2	NP_002684.1:p.(Glu700=)	NC_000015.9:g.89867103C>T	(Likely) benign	1 lab	a59a1b2990
6:32937211 BRD2 G>T	6	32937211	32937211	G	T	BRD2	c.-1305+378G>T	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32937211G>T	(Likely) benign	1 lab	a5a1b77c03
22:32234906 DEPDC5 G>A	22	32234906	32234906	G	A	DEPDC5	c.2515+75G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32234906G>A	(Likely) benign	1 lab	a5a6974e85
2:32476229 NLRC4 A>G	2	32476229	32476229	A	G	NLRC4	c.704T>C	NM_021209.4	NP_067032.3:p.(Met235Thr)	NC_000002.11:g.32476229A>G	(Likely) benign	1 lab	a5b063d1ca
13:52515218 ATP7B G>A	13	52515218	52515218	G	A	ATP7B	c.3555C>T	NM_000053.4	NP_000044.2:p.(Asp1185=)	NC_000013.10:g.52515218G>A	VUS	1 lab	a5b163545a
17:6596497 SLC13A5 AACAC>A	17	6596497	6596549	AACAC	A	SLC13A5	c.1157-20_1157-17del	NM_177550.5	NP_808218.1:p.?	NC_000017.10:g.6596546_6596549del	(Likely) benign	1 lab	a5b5184df4
2:233321739 ALPI G>A	2	233321739	233321739	G	A	ALPI	c.431G>A	NM_001631.5	NP_001622.2:p.(Arg144His)	NC_000002.11:g.233321739G>A	(Likely) benign	1 lab	a5bb916e1a
1:228481854 OBSCN C>T	1	228481854	228481854	C	T	OBSCN	c.12420C>T	NM_001271223.2	NP_001258152.2:p.(Ala4140=)	NC_000001.10:g.228481854C>T	(Likely) benign	1 lab	a5bbab1765
12:6438766 TNFRSF1A G>C	12	6438766	6438766	G	C	TNFRSF1A	c.1080C>G	NM_001065.3	NP_001056.1:p.(Tyr360Ter)	NC_000012.11:g.6438766G>C	VUS	1 lab	a5bcded933
9:138676491 KCNT1 G>A	9	138676491	138676491	G	A	KCNT1	c.3027+27G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676491G>A	(Likely) benign	1 lab	a5bf97babb
15:42113922 MAPKBP1 G>A	15	42113922	42113922	G	A	MAPKBP1	c.2877G>A	NM_001128608.2	NP_001122080.1:p.(Pro959=)	NC_000015.9:g.42113922G>A	(Likely) benign	1 lab	a5c652f86d
3:189607220 TP63 C>T	3	189607220	189607220	C	T	TP63	c.1599C>T	NM_003722.5	NP_003713.3:p.(Ser533=)	NC_000003.11:g.189607220C>T	(Likely) benign	1 lab	a5c719c5a3
17:5418775 NLRP1 C>T	17	5418775	5418775	C	T	NLRP1	c.4102+18G>A	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5418775C>T	(Likely) benign	1 lab	a5c7baa700
2:166758389 TTC21B C>T	2	166758389	166758389	C	T	TTC21B	c.2600G>A	NM_024753.5	NP_079029.3:p.(Arg867His)	NC_000002.11:g.166758389C>T	(Likely) benign	1 lab	a5ce57c4bf
2:73718475 ALMS1 C>G	2	73718475	73718475	C	G	ALMS1	c.9392C>G	NM_015120.4	NP_055935.4:p.(Pro3131Arg)	NC_000002.11:g.73718475C>G	(Likely) benign	1 lab	a5d4b54462
16:1256259 CACNA1H C>T	16	1256259	1256259	C	T	CACNA1H	c.2759C>T	NM_021098.3	NP_066921.2:p.(Thr920Met)	NC_000016.9:g.1256259C>T	(Likely) benign	1 lab	a5d9429302
16:31202294 FUS CG>C	16	31202294	31202298	CG	C	FUS	c.1408del	NM_004960.4	NP_004951.1:p.(Asp470MetfsTer59)	NC_000016.9:g.31202298del	(Likely) pathogenic	1 lab	a5dd968b5c
3:93699334 ARL13B G>A	3	93699334	93699334	G	A	ARL13B	c.59+8G>A	NM_182896.3	NP_878899.1:p.?	NC_000003.11:g.93699334G>A	(Likely) benign	1 lab	a5e0db4223
16:2147825 PKD1 GCAGGACCCCCAGCCCAGCC>G	16	2147825	2147856	GCAGGACCCCCAGCCCAGCC	G	PKD1	c.10167+25_10167+43del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147838_2147856del	(Likely) pathogenic	1 lab	a5e10aada6
8:68419071 CPA6 T>C	8	68419071	68419071	T	C	CPA6	c.587A>G	NM_020361.5	NP_065094.3:p.(His196Arg)	NC_000008.10:g.68419071T>C	VUS	1 lab	d4ed89428f
8:100729394 VPS13B T>C	8	100729394	100729394	T	C	VPS13B	c.6530-5T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100729394T>C	(Likely) benign	1 lab	a5e59e6d86
3:124385380 KALRN A>C	3	124385380	124385380	A	C	KALRN	c.6427A>C	NM_001024660.5	NP_001019831.2:p.(Lys2143Gln)	NC_000003.11:g.124385380A>C	VUS	1 lab	d4f3608085
12:10278026 CLEC7A G>A	12	10278026	10278026	G	A	CLEC7A	c.362C>T	NM_197947.3	NP_922938.1:p.(Pro121Leu)	NC_000012.11:g.10278026G>A	VUS	1 lab	d4f395aef3
12:44165051 IRAK4 A>G	12	44165051	44165051	A	G	IRAK4	c.190A>G	NM_016123.3	NP_057207.2:p.(Lys64Glu)	NC_000012.11:g.44165051A>G	(Likely) benign	1 lab	a5e6e680d6
11:108170610 ATM T>C	11	108170610	108170610	T	C	ATM	c.5175T>C	NM_000051.3	NP_000042.3:p.(Asp1725=)	NC_000011.9:g.108170610T>C	VUS	1 lab	a5e81ddb3d
8:140715087 KCNK9 C>T	8	140715087	140715087	C	T	KCNK9	c.149G>A	NM_001282534.2	NP_001269463.1:p.(Gly50Glu)	NC_000008.10:g.140715087C>T	(Likely) benign	1 lab	a5eafebce0
12:112915723 PTPN11 C>T	12	112915723	112915723	C	T	PTPN11	c.996C>T	NM_002834.3	NP_002825.3:p.(Gly332=)	NC_000012.11:g.112915723C>T	(Likely) benign	1 lab	a5ec05c2a8
12:6442532 TNFRSF1A C>T	12	6442532	6442532	C	T	TNFRSF1A	c.472+1G>A	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442532C>T	(Likely) pathogenic	1 lab	a5efd2ade7
6:7567650 DSP G>A	6	7567650	7567650	G	A	DSP	c.1108G>A	NM_004415.4	NP_004406.2:p.(Val370Ile)	NC_000006.11:g.7567650G>A	VUS	1 lab	d502b3b77f
16:56913510 SLC12A3 C>A	16	56913510	56913510	C	A	SLC12A3	c.1392C>A	NM_000339.3	NP_000330.3:p.(Ala464=)	NC_000016.9:g.56913510C>A	(Likely) benign	1 lab	a5f07baa7f
X:100608924 BTK G>A	X	100608924	100608924	G	A	BTK	c.1684C>T	NM_000061.2	NP_000052.1:p.(Arg562Trp)	NC_000023.10:g.100608924G>A	(Likely) pathogenic	1 lab	a5f28fe383
10:64574224 EGR2 G>A	10	64574224	64574224	G	A	EGR2	c.174C>T	NM_000399.3	NP_000390.2:p.(Gly58=)	NC_000010.10:g.64574224G>A	(Likely) benign	1 lab	a5f685f631
15:28377879 HERC2 C>T	15	28377879	28377879	C	T	HERC2	c.12328G>A	NM_004667.6	NP_004658.3:p.(Gly4110Arg)	NC_000015.9:g.28377879C>T	VUS	1 lab	d4f61759a9
18:28666527 DSC2 T>TTA	18	28666527	28666528	T	TTA	DSC2	c.942+11_942+12insTA	NM_004949.3	NP_004940.1:p.?	NC_000018.9:g.28666527_28666528insTA	(Likely) benign	1 lab	a601ce5d28
10:75857025 VCL A>G	10	75857025	75857025	A	G	VCL	c.1807A>G	NM_014000.3	NP_054706.1:p.(Thr603Ala)	NC_000010.10:g.75857025A>G	VUS	1 lab	d4f8bb37fb
1:43888140 SZT2 C>T	1	43888140	43888140	C	T	SZT2	c.1770-11C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43888140C>T	(Likely) benign	1 lab	a602b1f21e
15:99670414 SYNM C>T	15	99670414	99670414	C	T	SYNM	c.1849C>T	NM_145728.2	NP_663780.2:p.(Arg617Trp)	NC_000015.9:g.99670414C>T	(Likely) benign	1 lab	a607c6604c
21:45194641 CSTB C>G	21	45194641	45194641	C	G	CSTB	c.67-1G>C	NM_000100.3	NP_000091.1:p.?	NC_000021.8:g.45194641C>G	(Likely) pathogenic	1 lab	a61012e8d5
9:34650287 GALT A>AAAAAAAAAT	9	34650287	34650296	A	AAAAAAAAAT	GALT	c.1060-78_1060-70dup	NM_000155.4	NP_000146.2:p.?	NC_000009.11:g.34650288_34650296dup	(Likely) benign	1 lab	a610207212
1:116943862 ATP1A1 G>A	1	116943862	116943862	G	A	ATP1A1	c.2829G>A	NM_001160233.1	NP_001153705.1:p.(Ser943=)	NC_000001.10:g.116943862G>A	(Likely) benign	1 lab	a610370d0b
8:32505633 NRG1 G>C	8	32505633	32505633	G	C	NRG1	c.397G>C	NM_013959.3	NP_039253.1:p.(Val133Leu)	NC_000008.10:g.32505633G>C	(Likely) benign	1 lab	a6169df645
19:17000943 F2RL3 C>T	19	17000943	17000943	C	T	F2RL3	c.669C>T	NM_003950.4	NP_003941.2:p.(Ser223=)	NC_000019.9:g.17000943C>T	(Likely) benign	1 lab	a6178c7d47
22:40756399 ADSL T>C	22	40756399	40756399	T	C	ADSL	c.702-7T>C	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40756399T>C	(Likely) benign	1 lab	a623411901
4:87080229 MAPK10 CA>C	4	87080229	87080239	CA	C	MAPK10	c.236+221del	NM_138982.4	NP_620448.1:p.?	NC_000004.11:g.87080239del	(Likely) benign	1 lab	a631758114
19:6833654 VAV1 G>T	19	6833654	6833654	G	T	VAV1	c.1708+18G>T	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6833654G>T	(Likely) benign	1 lab	a635c51a14
2:228552010 SLC19A3 G>T	2	228552010	228552010	G	T	SLC19A3	c.*103C>A	NM_025243.4	NP_079519.1:p.?	NC_000002.11:g.228552010G>T	(Likely) benign	1 lab	a63c312c12
16:3304354 MEFV C>A	16	3304354	3304354	C	A	MEFV	c.714G>T	NM_000243.2	NP_000234.1:p.(Met238Ile)	NC_000016.9:g.3304354C>A	VUS	1 lab	a63f7ae156
10:16882374 CUBN C>T	10	16882374	16882374	C	T	CUBN	c.9987G>A	NM_001081.3	NP_001072.2:p.(Ser3329=)	NC_000010.10:g.16882374C>T	(Likely) benign	1 lab	a640ba012b
11:108203612 ATM T>G	11	108203612	108203612	T	G	ATM	c.7912T>G	NM_000051.3	NP_000042.3:p.(Trp2638Gly)	NC_000011.9:g.108203612T>G	VUS	1 lab	a64281b0a8
X:44935924 KDM6A CTT>C	X	44935924	44935937	CTT	C	KDM6A	c.2859-6_2859-5del	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44935936_44935937del	(Likely) benign	1 lab	a6431449b3
16:2155326 PKD1 G>T	16	2155326	2155326	G	T	PKD1	c.8013C>A	NM_001009944.2	NP_001009944.2:p.(Cys2671Ter)	NC_000016.9:g.2155326G>T	(Likely) pathogenic	1 lab	a643703521
13:110804668 COL4A1 T>G	13	110804668	110804668	T	G	COL4A1	c.4928+13A>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110804668T>G	(Likely) benign	1 lab	a644bf4c10
19:6707866 C3 G>A	19	6707866	6707866	G	A	C3	c.1920C>T	NM_000064.2	NP_000055.2:p.(Ser640=)	NC_000019.9:g.6707866G>A	(Likely) benign	1 lab	a64655b1c8
X:153763485 G6PD A>G	X	153763485	153763485	A	G	G6PD	c.383T>C	NM_001042351.2	NP_001035810.1:p.(Leu128Pro)	NC_000023.10:g.153763485A>G	(Likely) pathogenic	1 lab	a649c2ccdc
8:30560655 GSR C>T	8	30560655	30560655	C	T	GSR	c.595G>A	NM_000637.5	NP_000628.2:p.(Ala199Thr)	NC_000008.10:g.30560655C>T	(Likely) benign	1 lab	a64f733d7f
1:235606402 TBCE G>GC	1	235606402	235606407	G	GC	TBCE	c.1399+181dup	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235606407dup	(Likely) benign	1 lab	a65010dcb0
9:452113 DOCK8 A>G	9	452113	452113	A	G	DOCK8	c.6064A>G	NM_203447.3	NP_982272.2:p.(Met2022Val)	NC_000009.11:g.452113A>G	(Likely) benign	1 lab	a650751365
2:163133305 IFIH1 A>G	2	163133305	163133305	A	G	IFIH1	c.2196T>C	NM_022168.4	NP_071451.2:p.(Tyr732=)	NC_000002.11:g.163133305A>G	(Likely) benign	1 lab	a650a27a09
2:152394705 NEB T>C	2	152394705	152394705	T	C	NEB	c.20946A>G	NM_001271208.1	NP_001258137.1:p.(Lys6982=)	NC_000002.11:g.152394705T>C	(Likely) benign	1 lab	a653851af8
2:25462086 DNMT3A T>A	2	25462086	25462086	T	A	DNMT3A	c.2323-2A>T	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25462086T>A	(Likely) pathogenic	1 lab	a6587af94f
3:38598725 SCN5A C>T	3	38598725	38598725	C	T	SCN5A	c.4296G>A	NM_198056.2	NP_932173.1:p.(Arg1432=)	NC_000003.11:g.38598725C>T	(Likely) benign	1 lab	a65ac00e6e
14:58737160 PSMA3 T>C	14	58737160	58737160	T	C	PSMA3	c.615T>C	NM_002788.4	NP_002779.1:p.(Val205=)	NC_000014.8:g.58737160T>C	(Likely) benign	1 lab	a65ccb2399
2:197761931 PGAP1 AAAGT>A	2	197761931	197761939	AAAGT	A	PGAP1	c.861-14_861-11del	NM_024989.4	NP_079265.2:p.?	NC_000002.11:g.197761936_197761939del	(Likely) benign	1 lab	a65dbc27f8
5:1264704 TERT G>T	5	1264704	1264704	G	T	TERT	c.2658C>A	NM_198253.2	NP_937983.2:p.(Thr886=)	NC_000005.9:g.1264704G>T	(Likely) benign	1 lab	a65f921399
1:150779755 CTSK C>T	1	150779755	150779755	C	T	CTSK	c.-1-473G>A	NM_000396.4	NP_000387.1:p.?	NC_000001.10:g.150779755C>T	(Likely) benign	1 lab	d4fdc19a67
6:52101739 IL17F T>C	6	52101739	52101739	T	C	IL17F	c.482A>G	NM_052872.3	NP_443104.1:p.(His161Arg)	NC_000006.11:g.52101739T>C	(Likely) benign	1 lab	a663477e8a
9:130587079 ENG C>T	9	130587079	130587079	C	T	ENG	c.991G>A	NM_000118.3	NP_000109.1:p.(Gly331Ser)	NC_000009.11:g.130587079C>T	(Likely) pathogenic	1 lab	a668179f0c
9:139266507 CARD9 G>A	9	139266507	139266507	G	A	CARD9	c.24C>T	NM_052813.4	NP_434700.2:p.(Asp8=)	NC_000009.11:g.139266507G>A	(Likely) benign	1 lab	a66a4ac00b
16:86602036 FOXC2 C>G	16	86602036	86602036	C	G	FOXC2	c.1095C>G	NM_005251.3	NP_005242.1:p.(Pro365=)	NC_000016.9:g.86602036C>G	(Likely) benign	1 lab	a66c3e017a
22:26291145 MYO18B C>T	22	26291145	26291145	C	T	MYO18B	c.4566C>T	NM_032608.7	NP_115997.5:p.(Phe1522=)	NC_000022.10:g.26291145C>T	(Likely) benign	1 lab	a66cd83322
18:29178548 TTR C>T	18	29178548	29178548	C	T	TTR	c.354C>T	NM_000371.3	NP_000362.1:p.(Asn118=)	NC_000018.9:g.29178548C>T	(Likely) benign	1 lab	a675718c76
5:34950285 DNAJC21 A>C	5	34950285	34950285	A	C	DNAJC21	c.1196A>C	NM_001012339.3	NP_001012339.2:p.(Asp399Ala)	NC_000005.9:g.34950285A>C	(Likely) benign	1 lab	a675d7ba8d
12:69124881 NUP107 A>G	12	69124881	69124881	A	G	NUP107	c.1735-9A>G	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69124881A>G	(Likely) benign	1 lab	a67c080244
16:89590825 SPG7 C>T	16	89590825	89590825	C	T	SPG7	c.618+170C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590825C>T	(Likely) benign	1 lab	a680abf940
16:56368712 GNAO1 G>A	16	56368712	56368712	G	A	GNAO1	c.536G>A	NM_020988.3	NP_066268.1:p.(Arg179Lys)	NC_000016.9:g.56368712G>A	(Likely) pathogenic	1 lab	a68cfa525c
19:36321865 NPHS1 T>A	19	36321865	36321865	T	A	NPHS1	c.3482-7A>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36321865T>A	(Likely) benign	1 lab	a697595253
18:58038939 MC4R A>C	18	58038939	58038939	A	C	MC4R	c.644T>G	NM_005912.3	NP_005903.2:p.(Met215Arg)	NC_000018.9:g.58038939A>C	(Likely) pathogenic	1 lab	a69f3b3a3f
11:6411934 SMPD1 GTGCTGGC>G	11	6411934	6411941	GTGCTGGC	G	SMPD1	c.107_113del	NM_000543.5	NP_000534.3:p.(Val36GlyfsTer39)	NC_000011.9:g.6411935_6411941del	(Likely) benign	1 lab	a69fee2e48
10:95111163 MYOF A>G	10	95111163	95111163	A	G	MYOF	c.3822+7T>C	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95111163A>G	(Likely) benign	1 lab	a6a39edce7
1:201332518 TNNT2 C>T	1	201332518	201332518	C	T	TNNT2	c.476G>A	NM_001276347.2	NP_001263276.1:p.(Arg159Gln)	NC_000001.10:g.201332518C>T	(Likely) pathogenic	1 lab	a6a746c3f8
4:79393269 FRAS1 T>C	4	79393269	79393269	T	C	FRAS1	c.7372-65T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79393269T>C	(Likely) benign	1 lab	a6a9508998
X:25031671 ARX T>C	X	25031671	25031671	T	C	ARX	c.441A>G	NM_139058.3	NP_620689.1:p.(Ala147=)	NC_000023.10:g.25031671T>C	(Likely) benign	1 lab	a6a9d61ffa
16:2153749 PKD1 T>C	16	2153749	2153749	T	C	PKD1	c.8309A>G	NM_001009944.2	NP_001009944.2:p.(Asn2770Ser)	NC_000016.9:g.2153749T>C	VUS	1 lab	a6ae9c567e
9:138677937 KCNT1 C>T	9	138677937	138677937	C	T	KCNT1	c.3178-106C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677937C>T	(Likely) benign	1 lab	a6b054098a
17:41201345 BRCA1 G>T	17	41201345	41201345	G	T	BRCA1	c.5333-134C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201345G>T	(Likely) benign	1 lab	a6b44bdf47
2:166245634 SCN2A C>T	2	166245634	166245634	C	T	SCN2A	c.5318C>T	NM_021007.3	NP_066287.2:p.(Ala1773Val)	NC_000002.11:g.166245634C>T	(Likely) pathogenic	1 lab	a6c806cb01
3:77666778 ROBO2 C>T	3	77666778	77666778	C	T	ROBO2	c.3408C>T	NM_002942.5	NP_002933.1:p.(Gly1136=)	NC_000003.11:g.77666778C>T	(Likely) benign	1 lab	a6d18a7ecb
3:42730479 KLHL40 G>A	3	42730479	42730479	G	A	KLHL40	c.1540G>A	NM_152393.4	NP_689606.2:p.(Val514Met)	NC_000003.11:g.42730479G>A	(Likely) benign	1 lab	a6d2339391
9:138664586 KCNT1 C>T	9	138664586	138664586	C	T	KCNT1	c.2034C>T	NM_020822.2	NP_065873.2:p.(Gly678=)	NC_000009.11:g.138664586C>T	(Likely) benign	1 lab	a6db8c47d8
12:102224491 GNPTAB AGCCGCCGCC>A	12	102224491	102224515	AGCCGCCGCC	A	GNPTAB	c.-47_-39del	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102224507_102224515del	(Likely) benign	1 lab	a6dd0055d0
16:75298285 BCAR1 C>G	16	75298285	75298285	C	G	BCAR1	c.114G>C	NM_001170714.3	NP_001164185.1:p.(Glu38Asp)	NC_000016.9:g.75298285C>G	(Likely) benign	1 lab	a6de7384c1
9:5022119 JAK2 C>T	9	5022119	5022119	C	T	JAK2	c.132C>T	NM_004972.3	NP_004963.1:p.(Tyr44=)	NC_000009.11:g.5022119C>T	(Likely) benign	1 lab	a6def291bb
2:231065630 SP110 G>A	2	231065630	231065630	G	A	SP110	c.1100C>T	NM_004509.4	NP_004500.4:p.(Thr367Met)	NC_000002.11:g.231065630G>A	(Likely) benign	1 lab	a6def2df01
2:149227826 MBD5 A>C	2	149227826	149227826	A	C	MBD5	c.2314A>C	NM_018328.4	NP_060798.2:p.(Asn772His)	NC_000002.11:g.149227826A>C	(Likely) benign	1 lab	a6e1c1a374
6:31929812 SKIC2 G>A	6	31929812	31929812	G	A	SKIC2	c.1045G>A	NM_006929.5	NP_008860.4:p.(Ala349Thr)	NC_000006.11:g.31929812G>A	(Likely) benign	1 lab	a6e642e141
1:158637835 SPTA1 C>CT	1	158637835	158637837	C	CT	SPTA1	c.1850dup	NM_003126.3	NP_003117.2:p.(Ser618GlufsTer10)	NC_000001.10:g.158637837dup	(Likely) pathogenic	1 lab	a6e6ab948d
X:32472896 DMD G>C	X	32472896	32472896	G	C	DMD	c.3117C>G	NM_004010.3	NP_004001.1:p.(Leu1039=)	NC_000023.10:g.32472896G>C	(Likely) benign	1 lab	a6e7216a86
11:118916556 HYOU1 G>C	11	118916556	118916556	G	C	HYOU1	c.2888-13C>G	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118916556G>C	(Likely) benign	1 lab	a6ea90c770
19:55451256 NLRP7 G>T	19	55451256	55451256	G	T	NLRP7	c.931C>A	NM_001127255.1	NP_001120727.1:p.(Leu311Ile)	NC_000019.9:g.55451256G>T	(Likely) benign	1 lab	a6eca157ec
7:75959560 YWHAG G>A	7	75959560	75959560	G	A	YWHAG	c.88-10C>T	NM_012479.4	NP_036611.2:p.?	NC_000007.13:g.75959560G>A	(Likely) benign	1 lab	a6f12cc364
2:168106525 XIRP2 C>T	2	168106525	168106525	C	T	XIRP2	c.8623C>T	NM_152381.6	NP_689594.4:p.(Gln2875Ter)	NC_000002.11:g.168106525C>T	(Likely) pathogenic	1 lab	a6f1bec2f0
20:45315750 TP53RK G>A	20	45315750	45315750	G	A	TP53RK	c.404C>T	NM_033550.4	NP_291028.3:p.(Thr135Ile)	NC_000020.10:g.45315750G>A	(Likely) benign	1 lab	a6f793a8a7
16:23364276 SCNN1B C>T	16	23364276	23364276	C	T	SCNN1B	c.466C>T	NM_000336.3	NP_000327.2:p.(Arg156Trp)	NC_000016.9:g.23364276C>T	(Likely) benign	1 lab	a6fb03ca28
4:6611530 MAN2B2 T>C	4	6611530	6611530	T	C	MAN2B2	c.2012T>C	NM_015274.3	NP_056089.1:p.(Met671Thr)	NC_000004.11:g.6611530T>C	(Likely) benign	1 lab	a6fb43b25a
13:103297309 TPP2 C>T	13	103297309	103297309	C	T	TPP2	c.2343C>T	NM_003291.4	NP_003282.2:p.(Tyr781=)	NC_000013.10:g.103297309C>T	(Likely) benign	1 lab	a6fced4fa1
2:47702268 MSH2 C>T	2	47702268	47702268	C	T	MSH2	c.1864C>T	NM_000251.3	NP_000242.1:p.(Pro622Ser)	NC_000002.11:g.47702268C>T	VUS	1 lab	d507b5d056
3:10183725 VHL C>T	3	10183725	10183725	C	T	VHL	c.194C>T	NM_000551.3	NP_000542.1:p.(Ser65Leu)	NC_000003.11:g.10183725C>T	(Likely) pathogenic	1 lab	a6ff9c3ad7
20:35559468 SAMHD1 A>G	20	35559468	35559468	A	G	SAMHD1	c.510-190T>C	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35559468A>G	(Likely) benign	1 lab	a704a24202
3:39230585 XIRP1 C>T	3	39230585	39230585	C	T	XIRP1	c.352G>A	NM_194293.4	NP_919269.2:p.(Val118Met)	NC_000003.11:g.39230585C>T	(Likely) benign	1 lab	a70784ea80
4:39188187 WDR19 C>T	4	39188187	39188187	C	T	WDR19	c.127C>T	NM_025132.4	NP_079408.3:p.(Arg43Cys)	NC_000004.11:g.39188187C>T	VUS	1 lab	a70b275deb
22:32202089 DEPDC5 CTGTT>C	22	32202089	32202098	CTGTT	C	DEPDC5	c.1218-13_1218-10del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32202095_32202098del	(Likely) benign	1 lab	a70bce5284
6:32797283 TAP2 G>A	6	32797283	32797283	G	A	TAP2	c.1826C>T	NM_000544.3	NP_000535.3:p.(Ala609Val)	NC_000006.11:g.32797283G>A	(Likely) benign	1 lab	a70bdc12c4
X:133632467 HPRT1 G>A	X	133632467	133632467	G	A	HPRT1	c.532+1G>A	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133632467G>A	(Likely) pathogenic	1 lab	a70c722e93
3:49160692 LAMB2 T>C	3	49160692	49160692	T	C	LAMB2	c.4097A>G	NM_002292.4	NP_002283.3:p.(His1366Arg)	NC_000003.11:g.49160692T>C	(Likely) benign	1 lab	a70ca9be42
16:23200921 SCNN1G G>A	16	23200921	23200921	G	A	SCNN1G	c.547G>A	NM_001039.4	NP_001030.2:p.(Gly183Ser)	NC_000016.9:g.23200921G>A	(Likely) benign	1 lab	a70d3f987e
11:108124675 ATM T>C	11	108124675	108124675	T	C	ATM	c.2033T>C	NM_000051.3	NP_000042.3:p.(Ile678Thr)	NC_000011.9:g.108124675T>C	(Likely) benign	1 lab	a70dd3078c
5:45462149 HCN1 T>C	5	45462149	45462149	T	C	HCN1	c.850-40A>G	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45462149T>C	(Likely) benign	1 lab	a70f65b907
5:52358769 ITGA2 A>T	5	52358769	52358769	A	T	ITGA2	c.1602+10A>T	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52358769A>T	(Likely) benign	1 lab	a72081493d
2:174131394 MAP3K20 C>T	2	174131394	174131394	C	T	MAP3K20	c.2319C>T	NM_016653.2	NP_057737.2:p.(Tyr773=)	NC_000002.11:g.174131394C>T	(Likely) benign	1 lab	a725aa38ca
9:139400094 NOTCH1 G>C	9	139400094	139400094	G	C	NOTCH1	c.4254C>G	NM_017617.5	NP_060087.3:p.(Ala1418=)	NC_000009.11:g.139400094G>C	(Likely) benign	1 lab	a7278fc2e4
9:124093745 GSN G>A	9	124093745	124093745	G	A	GSN	c.2179+19G>A	NM_000177.5	NP_000168.1:p.?	NC_000009.11:g.124093745G>A	(Likely) benign	1 lab	a72b87a365
1:237054538 MTR A>G	1	237054538	237054538	A	G	MTR	c.3113A>G	NM_000254.2	NP_000245.2:p.(Gln1038Arg)	NC_000001.10:g.237054538A>G	(Likely) benign	1 lab	a7303ea81d
X:47062130 UBA1 C>T	X	47062130	47062130	C	T	UBA1	c.1150C>T	NM_003334.4	NP_003325.2:p.(Arg384Trp)	NC_000023.10:g.47062130C>T	(Likely) benign	1 lab	a733b1a0b1
3:39229196 XIRP1 G>T	3	39229196	39229196	G	T	XIRP1	c.1741C>A	NM_194293.4	NP_919269.2:p.(Pro581Thr)	NC_000003.11:g.39229196G>T	(Likely) benign	1 lab	a733e96ed6
5:161528364 GABRG2 A>C	5	161528364	161528364	A	C	GABRG2				NC_000005.9:g.161528364A>C	(Likely) benign	1 lab	a73430cf40
17:8014863 ALOXE3 G>A	17	8014863	8014863	G	A	ALOXE3	c.1181-14C>T	NM_001165960.1	NP_001159432.1:p.?	NC_000017.10:g.8014863G>A	(Likely) benign	1 lab	a735bc73e5
12:56097025 ITGA7 A>C	12	56097025	56097025	A	C	ITGA7	c.207-63T>G	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56097025A>C	(Likely) benign	1 lab	a736049ee9
1:103496620 COL11A1 G>T	1	103496620	103496620	G	T	COL11A1	c.780+52C>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496620G>T	(Likely) benign	1 lab	d50a41b8f4
15:57924625 MYZAP G>A	15	57924625	57924625	G	A	MYZAP	c.679-7G>A	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57924625G>A	(Likely) benign	1 lab	a73c41c553
X:64951062 MSN C>T	X	64951062	64951062	C	T	MSN	c.551+10C>T	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64951062C>T	(Likely) benign	1 lab	a73ef5ec86
X:67429834 OPHN1 CTT>C	X	67429834	67429847	CTT	C	OPHN1	c.832+159_832+160del	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67429846_67429847del	(Likely) benign	1 lab	a74caabdfd
16:2153588 PKD1 G>A	16	2153588	2153588	G	A	PKD1	c.8470C>T	NM_001009944.2	NP_001009944.2:p.(Gln2824Ter)	NC_000016.9:g.2153588G>A	(Likely) pathogenic	1 lab	a74f5efc45
9:130580407 ENG G>A	9	130580407	130580407	G	A	ENG	c.1678C>T	NM_000118.3	NP_000109.1:p.(Gln560Ter)	NC_000009.11:g.130580407G>A	(Likely) pathogenic	1 lab	a7521f3a01
12:66932849 GRIP1 T>C	12	66932849	66932849	T	C	GRIP1	c.418+9A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66932849T>C	(Likely) benign	1 lab	a7551b884d
9:125145811 PTGS1 G>A	9	125145811	125145811	G	A	PTGS1	c.786G>A	NM_000962.4	NP_000953.2:p.(Pro262=)	NC_000009.11:g.125145811G>A	(Likely) benign	1 lab	a7600c8342
14:64716313 ESR2 G>C	14	64716313	64716313	G	C	ESR2	c.1176C>G	NM_001437.2	NP_001428.1:p.(Leu392=)	NC_000014.8:g.64716313G>C	(Likely) benign	1 lab	a760778a7d
4:2834742 SH3BP2 C>G	4	2834742	2834742	C	G	SH3BP2	c.1598C>G	NM_001145855.2	NP_001139327.1:p.(Ser533Cys)	NC_000004.11:g.2834742C>G	(Likely) benign	1 lab	a764a907c6
2:179655545 TTN C>T	2	179655545	179655545	C	T	TTN	c.1690G>A	NM_001267550.2	NP_001254479.2:p.(Ala564Thr)	NC_000002.11:g.179655545C>T	VUS	1 lab	d50e07e843
2:128396915 LIMS2 GCTT>G	2	128396915	128396922	GCTT	G	LIMS2	c.964_966del	NM_001161403.3	NP_001154875.1:p.(Lys322del)	NC_000002.11:g.128396920_128396922del	(Likely) benign	1 lab	a7679d63e5
5:11117544 CTNND2 T>C	5	11117544	11117544	T	C	CTNND2	c.2277+18A>G	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11117544T>C	(Likely) benign	1 lab	a76b947580
2:228169955 COL4A3 G>A	2	228169955	228169955	G	A	COL4A3	c.4252+156G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228169955G>A	(Likely) benign	1 lab	a770d89aa1
22:36661291 APOL1 A>G	22	36661291	36661291	A	G	APOL1	c.409A>G	NM_003661.4	NP_003652.2:p.(Arg137Gly)	NC_000022.10:g.36661291A>G	(Likely) benign	1 lab	a7741fb69e
3:137892465 DBR1 A>G	3	137892465	137892465	A	G	DBR1	c.201T>C	NM_016216.4	NP_057300.2:p.(Tyr67=)	NC_000003.11:g.137892465A>G	(Likely) benign	1 lab	a776828311
22:41566595 EP300 C>T	22	41566595	41566595	C	T	EP300	c.4452+20C>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41566595C>T	(Likely) benign	1 lab	d50e99d539
6:133846199 EYA4 C>A	6	133846199	133846199	C	A	EYA4	c.1785C>A	NM_172105.3	NP_742103.1:p.(Asn595Lys)	NC_000006.11:g.133846199C>A	(Likely) benign	1 lab	a77891d2f2
12:133253208 POLE G>A	12	133253208	133253208	G	A	POLE	c.833C>T	NM_006231.3	NP_006222.2:p.(Thr278Met)	NC_000012.11:g.133253208G>A	VUS	1 lab	a77a8f0f1f
14:105174807 INF2 C>T	14	105174807	105174807	C	T	INF2	c.1770C>T	NM_022489.3	NP_071934.3:p.(Pro590=)	NC_000014.8:g.105174807C>T	(Likely) benign	1 lab	a783e00e48
11:47367764 MYBPC3 T>C	11	47367764	47367764	T	C	MYBPC3	c.1084A>G	NM_000256.3	NP_000247.2:p.(Ser362Gly)	NC_000011.9:g.47367764T>C	VUS	1 lab	a784220f82
1:6279370 RNF207 G>C	1	6279370	6279370	G	C	RNF207	c.1808G>C	NM_207396.3	NP_997279.2:p.(Gly603Ala)	NC_000001.10:g.6279370G>C	(Likely) benign	1 lab	a7843f04a2
14:67610073 GPHN T>C	14	67610073	67610073	T	C	GPHN	c.1749-6T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67610073T>C	(Likely) benign	1 lab	a78550957e
1:151315395 RFX5 G>T	1	151315395	151315395	G	T	RFX5	c.1118C>A	NM_000449.3	NP_000440.1:p.(Ala373Glu)	NC_000001.10:g.151315395G>T	(Likely) benign	1 lab	a7864fa06e
2:228125815 COL4A3 G>A	2	228125815	228125815	G	A	COL4A3	c.1132G>A	NM_000091.4	NP_000082.2:p.(Gly378Arg)	NC_000002.11:g.228125815G>A	(Likely) pathogenic	1 lab	a7877cf070
16:1254276 CACNA1H G>C	16	1254276	1254276	G	C	CACNA1H	c.2269G>C	NM_021098.3	NP_066921.2:p.(Gly757Arg)	NC_000016.9:g.1254276G>C	(Likely) benign	1 lab	a7920c9f39
1:155265361 PKLR T>G	1	155265361	155265361	T	G	PKLR	c.376-2A>C	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155265361T>G	(Likely) pathogenic	1 lab	a793eae394
12:15702202 PTPRO AAT>A	12	15702202	15702218	AAT	A	PTPRO	c.2437+57_2437+58del	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15702217_15702218del	(Likely) benign	1 lab	a7980ce196
7:79846720 GNAI1 G>C	7	79846720	79846720	G	C	GNAI1	c.976G>C	NM_002069.6	NP_002060.4:p.(Ala326Pro)	NC_000007.13:g.79846720G>C	(Likely) pathogenic	1 lab	a79aa8447d
1:247587883 NLRP3 G>A	1	247587883	247587883	G	A	NLRP3	c.1132G>A	NM_001243133.2	NP_001230062.1:p.(Glu378Lys)	NC_000001.10:g.247587883G>A	(Likely) pathogenic	1 lab	a79abbfa39
12:66800214 GRIP1 A>G	12	66800214	66800214	A	G	GRIP1	c.1683-6T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66800214A>G	(Likely) benign	1 lab	a79b9f2d6a
2:166246289 SCN2A A>G	2	166246289	166246289	A	G	SCN2A	c.5973A>G	NM_021007.3	NP_066287.2:p.(Ser1991=)	NC_000002.11:g.166246289A>G	(Likely) benign	1 lab	a79c6295c9
1:112322912 KCND3 C>G	1	112322912	112322912	C	G	KCND3	c.1396G>C	NM_004980.5	NP_004971.2:p.(Gly466Arg)	NC_000001.10:g.112322912C>G	VUS	1 lab	d51018f7b0
1:27087405 ARID1A G>A	1	27087405	27087405	G	A	ARID1A	c.1979G>A	NM_006015.6	NP_006006.3:p.(Gly660Glu)	NC_000001.10:g.27087405G>A	VUS	1 lab	d5106345cb
17:42331863 SLC4A1 C>T	17	42331863	42331863	C	T	SLC4A1	c.2057+1G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42331863C>T	(Likely) pathogenic	1 lab	a7a54855f8
9:138645696 KCNT1 C>T	9	138645696	138645696	C	T	KCNT1	c.435-87C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138645696C>T	(Likely) benign	1 lab	a7a76e6fd5
12:52307089 ACVRL1 T>C	12	52307089	52307089	T	C	ACVRL1	c.268T>C	NM_000020.2	NP_000011.2:p.(Cys90Arg)	NC_000012.11:g.52307089T>C	(Likely) pathogenic	1 lab	a7a8ec2b05
12:52173781 SCN8A G>GTTC	12	52173781	52173786	G	GTTC	SCN8A	c.3820-649_3820-647dup	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52173784_52173786dup	(Likely) benign	1 lab	a7aa138b6a
8:38003569 STAR G>A	8	38003569	38003569	G	A	STAR	c.562C>T	NM_000349.3	NP_000340.2:p.(Arg188Cys)	NC_000008.10:g.38003569G>A	(Likely) pathogenic	1 lab	a7aadbb825
1:155263330 PKLR C>T	1	155263330	155263330	C	T	PKLR	c.1168G>A	NM_000298.6	NP_000289.1:p.(Asp390Asn)	NC_000001.10:g.155263330C>T	(Likely) pathogenic	1 lab	a7aeeab927
1:215848641 USH2A T>C	1	215848641	215848641	T	C	USH2A	c.12612A>G	NM_206933.4	NP_996816.3:p.(Thr4204=)	NC_000001.10:g.215848641T>C	(Likely) benign	1 lab	d5127de46f
3:132420381 NPHP3 GA>G	3	132420381	132420390	GA	G	NPHP3	c.1525-5del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132420390del	(Likely) benign	1 lab	a7b0614a11
20:43600707 STK4 C>G	20	43600707	43600707	C	G	STK4	c.36-12C>G	NM_006282.2	NP_006273.1:p.?	NC_000020.10:g.43600707C>G	(Likely) benign	1 lab	a7b2ca9d53
12:52100213 SCN8A C>T	12	52100213	52100213	C	T	SCN8A	c.1349C>T	NM_014191.4	NP_055006.1:p.(Ala450Val)	NC_000012.11:g.52100213C>T	(Likely) benign	1 lab	a7b2f7bb53
16:1257092 CACNA1H C>T	16	1257092	1257092	C	T	CACNA1H	c.2881C>T	NM_021098.3	NP_066921.2:p.(Leu961=)	NC_000016.9:g.1257092C>T	(Likely) benign	1 lab	a7b8507442
5:94834274 SKIC3 G>A	5	94834274	94834274	G	A	SKIC3	c.3363C>T	NM_014639.3	NP_055454.1:p.(Thr1121=)	NC_000005.9:g.94834274G>A	(Likely) benign	1 lab	a7bc95a08e
1:237947871 RYR2 T>C	1	237947871	237947871	T	C	RYR2	c.12859T>C	NM_001035.3	NP_001026.2:p.(Tyr4287His)	NC_000001.10:g.237947871T>C	VUS	1 lab	a7bd0b4a72
10:95552596 LGI1 C>T	10	95552596	95552596	C	T	LGI1	c.600C>T	NM_005097.3	NP_005088.1:p.(Cys200=)	NC_000010.10:g.95552596C>T	(Likely) benign	1 lab	a7bd796d80
X:63410224 AMER1 G>A	X	63410224	63410224	G	A	AMER1	c.2943C>T	NM_152424.4	NP_689637.3:p.(Asp981=)	NC_000023.10:g.63410224G>A	(Likely) benign	1 lab	a7c22e2943
10:27356071 ANKRD26 T>C	10	27356071	27356071	T	C	ANKRD26	c.1207+15A>G	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27356071T>C	(Likely) benign	1 lab	a8302e2b74
16:8906883 PMM2 T>C	16	8906883	8906883	T	C	PMM2	c.559T>C	NM_000303.3	NP_000294.1:p.(Trp187Arg)	NC_000016.9:g.8906883T>C	(Likely) pathogenic	1 lab	a7ccc429ce
2:145146982 ZEB2 GA>G	2	145146982	145146991	GA	G	ZEB2	c.*35del	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145146991del	(Likely) benign	1 lab	a85bff832d
12:6443277 TNFRSF1A C>A	12	6443277	6443277	C	A	TNFRSF1A	c.173G>T	NM_001065.3	NP_001056.1:p.(Cys58Phe)	NC_000012.11:g.6443277C>A	(Likely) pathogenic	1 lab	a7cdd1502a
12:116429323 MED13L C>T	12	116429323	116429323	C	T	MED13L	c.3436G>A	NM_015335.5	NP_056150.1:p.(Gly1146Arg)	NC_000012.11:g.116429323C>T	VUS	1 lab	d51b4d1f83
2:128366416 MYO7B T>C	2	128366416	128366416	T	C	MYO7B	c.2777T>C	NM_001080527.1	NP_001073996.1:p.(Ile926Thr)	NC_000002.11:g.128366416T>C	(Likely) benign	1 lab	a7db5d8f75
11:108115360 ATM AT>A	11	108115360	108115371	AT	A	ATM	c.663-144del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108115371del	(Likely) benign	1 lab	a7dd6ddd87
19:48646785 LIG1 G>T	19	48646785	48646785	G	T	LIG1	c.914+15C>A	NM_000234.1	NP_000225.1:p.?	NC_000019.9:g.48646785G>T	(Likely) benign	1 lab	a7df218c63
21:44836765 SIK1 C>T	21	44836765	44836765	C	T	SIK1	c.2209G>A	NM_173354.5	NP_775490.2:p.(Gly737Ser)	NC_000021.8:g.44836765C>T	(Likely) benign	1 lab	a7e09f871d
16:56903325 SLC12A3 C>T	16	56903325	56903325	C	T	SLC12A3	c.506-316C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56903325C>T	(Likely) benign	1 lab	a7e26490f0
6:52101744 IL17F G>T	6	52101744	52101744	G	T	IL17F	c.477C>A	NM_052872.3	NP_443104.1:p.(Ile159=)	NC_000006.11:g.52101744G>T	(Likely) benign	1 lab	a7e324c316
5:161495082 GABRG2 G>A	5	161495082	161495082	G	A	GABRG2				NC_000005.9:g.161495082G>A	(Likely) pathogenic	1 lab	a7e5cd2c8b
17:18156698 FLII G>GCTT	17	18156698	18156699	G	GCTT	FLII	c.896_897insAAG	NM_001256264.2	NP_001243193.1:p.(Ser300dup)	NC_000017.10:g.18156698_18156699insCTT	VUS	1 lab	a7e85a9c69
8:41553835 ANK1 G>A	8	41553835	41553835	G	A	ANK1	c.2960+46C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41553835G>A	(Likely) benign	1 lab	a7ead44260
1:158589105 SPTA1 T>C	1	158589105	158589105	T	C	SPTA1	c.6437A>G	NM_003126.3	NP_003117.2:p.(Gln2146Arg)	NC_000001.10:g.158589105T>C	(Likely) benign	1 lab	a7ebc1aeb3
15:48529077 SLC12A1 T>A	15	48529077	48529077	T	A	SLC12A1	c.1215+1876T>A	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48529077T>A	(Likely) benign	1 lab	a7ebfd926e
X:153296676 MECP2 C>T	X	153296676	153296676	C	T	MECP2	c.603G>A	NM_004992.3	NP_004983.1:p.(Ala201=)	NC_000023.10:g.153296676C>T	(Likely) benign	1 lab	a7ecdd6077
6:36260887 PNPLA1 C>T	6	36260887	36260887	C	T	PNPLA1	c.488C>T	NM_001145717.1	NP_001139189.2:p.(Pro163Leu)	NC_000006.11:g.36260887C>T	(Likely) pathogenic	1 lab	a7f803e1ea
16:3724510 TRAP1 C>T	16	3724510	3724510	C	T	TRAP1	c.889-15G>A	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3724510C>T	(Likely) benign	1 lab	a7fdc73a23
22:36744890 MYH9 C>T	22	36744890	36744890	C	T	MYH9	c.333+59G>A	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36744890C>T	(Likely) benign	1 lab	a7fef49b85
9:130581938 ENG G>C	9	130581938	130581938	G	C	ENG	c.1274C>G	NM_000118.3	NP_000109.1:p.(Ala425Gly)	NC_000009.11:g.130581938G>C	(Likely) pathogenic	1 lab	a82559880d
14:103406601 CDC42BPB C>T	14	103406601	103406601	C	T	CDC42BPB	c.4469G>A	NM_006035.4	NP_006026.3:p.(Arg1490His)	NC_000014.8:g.103406601C>T	(Likely) benign	1 lab	d51c5d1fde
2:179485829 TTN C>A	2	179485829	179485829	C	A	TTN	c.45616G>T	NM_001267550.2	NP_001254479.2:p.(Glu15206Ter)	NC_000002.11:g.179485829C>A	(Likely) pathogenic	1 lab	d51e4f3f2a
X:22002276 SMS GT>G	X	22002276	22002282	GT	G	SMS	c.751-140del	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.22002282del	(Likely) benign	1 lab	a802c7e624
1:154543611 CHRNB2 G>T	1	154543611	154543611	G	T	CHRNB2	c.366-54G>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154543611G>T	(Likely) benign	1 lab	a803b7ed98
X:153577711 FLNA G>A	X	153577711	153577711	G	A	FLNA	c.7756+19C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153577711G>A	(Likely) benign	1 lab	a80b8b718e
1:247586487 NLRP3 T>C	1	247586487	247586487	T	C	NLRP3	c.278-45T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247586487T>C	(Likely) benign	1 lab	a80ce504f3
6:45390511 RUNX2 G>A	6	45390511	45390511	G	A	RUNX2	c.240G>A	NM_001024630.4	NP_001019801.3:p.(Ala80=)	NC_000006.11:g.45390511G>A	(Likely) benign	1 lab	a80e721f94
9:138651559 KCNT1 G>A	9	138651559	138651559	G	A	KCNT1	c.889G>A	NM_020822.2	NP_065873.2:p.(Glu297Lys)	NC_000009.11:g.138651559G>A	(Likely) benign	1 lab	a80fe5bbbe
15:40289272 EIF2AK4 T>C	15	40289272	40289272	T	C	EIF2AK4	c.2868+6T>C	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40289272T>C	VUS	1 lab	a81046f781
22:32239047 DEPDC5 A>C	22	32239047	32239047	A	C	DEPDC5	c.2516-34A>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32239047A>C	(Likely) benign	1 lab	a8150488d4
17:62049954 SCN4A A>G	17	62049954	62049954	A	G	SCN4A	c.248T>C	NM_000334.4	NP_000325.4:p.(Leu83Pro)	NC_000017.10:g.62049954A>G	(Likely) benign	1 lab	a8154c417a
4:10100781 WDR1 C>T	4	10100781	10100781	C	T	WDR1	c.230-18G>A	NM_017491.5	NP_059830.1:p.?	NC_000004.11:g.10100781C>T	(Likely) benign	1 lab	a81581ead7
2:207631609 FASTKD2 T>C	2	207631609	207631609	T	C	FASTKD2	c.192T>C	NM_001136194.1	NP_001129666.1:p.(Phe64=)	NC_000002.11:g.207631609T>C	(Likely) benign	1 lab	a817db41c3
11:65389725 PCNX3 C>T	11	65389725	65389725	C	T	PCNX3	c.2245C>T	NM_032223.3	NP_115599.2:p.(Leu749=)	NC_000011.9:g.65389725C>T	(Likely) benign	1 lab	a81b71d64d
12:98926822 TMPO G>C	12	98926822	98926822	G	C	TMPO	c.787G>C	NM_003276.2	NP_003267.1:p.(Gly263Arg)	NC_000012.11:g.98926822G>C	(Likely) benign	1 lab	a81b9ccf93
4:79204209 FRAS1 C>T	4	79204209	79204209	C	T	FRAS1	c.1255+88C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79204209C>T	(Likely) benign	1 lab	a82213bc85
17:41242849 BRCA1 G>T	17	41242849	41242849	G	T	BRCA1	c.4185+112C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41242849G>T	(Likely) benign	1 lab	a832ad1a9b
3:38592155 SCN5A A>T	3	38592155	38592155	A	T	SCN5A	c.5708T>A	NM_198056.2	NP_932173.1:p.(Val1903Glu)	NC_000003.11:g.38592155A>T	VUS	1 lab	a8353d7462
2:31593265 XDH T>C	2	31593265	31593265	T	C	XDH	c.1936A>G	NM_000379.4	NP_000370.2:p.(Ile646Val)	NC_000002.11:g.31593265T>C	(Likely) benign	1 lab	a85ff9bf80
15:53905820 WDR72 GA>G	15	53905820	53905830	GA	G	WDR72	c.2872+42del	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.53905830del	(Likely) benign	1 lab	a83b8b305c
X:53611198 HUWE1 C>T	X	53611198	53611198	C	T	HUWE1	c.5109G>A	NM_031407.7	NP_113584.3:p.(Thr1703=)	NC_000023.10:g.53611198C>T	(Likely) benign	1 lab	a848fca28e
1:17371377 SDHB G>A	1	17371377	17371377	G	A	SDHB	c.79C>T	NM_003000.2	NP_002991.2:p.(Arg27Ter)	NC_000001.10:g.17371377G>A	(Likely) pathogenic	1 lab	a84ad159db
10:90524237 LIPN T>C	10	90524237	90524237	T	C	LIPN	c.297T>C	NM_001102469.2	NP_001095939.1:p.(Ala99=)	NC_000010.10:g.90524237T>C	(Likely) benign	1 lab	d51efa3982
11:65314054 LTBP3 G>A	11	65314054	65314054	G	A	LTBP3	c.2231-19C>T	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65314054G>A	(Likely) benign	1 lab	a8571a9003
16:81121145 GCSH T>C	16	81121145	81121145	T	C	GCSH	c.292+61A>G	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81121145T>C	(Likely) benign	1 lab	a858d6cf1a
1:16349137 CLCNKA G>A	1	16349137	16349137	G	A	CLCNKA	c.23G>A	NM_004070.4	NP_004061.3:p.(Arg8His)	NC_000001.10:g.16349137G>A	(Likely) benign	1 lab	a85a768f6d
4:79372856 FRAS1 A>C	4	79372856	79372856	A	C	FRAS1	c.6464-70A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79372856A>C	(Likely) benign	1 lab	a8640bf3d1
22:51065808 ARSA G>A	22	51065808	51065808	G	A	ARSA	c.251C>T	NM_000487.6	NP_000478.3:p.(Pro84Leu)	NC_000022.10:g.51065808G>A	(Likely) pathogenic	1 lab	a86aa9717c
1:151374274 PSMB4 TTC>T	1	151374274	151374277	TTC	T	PSMB4	c.783-17_783-16del	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151374276_151374277del	(Likely) benign	1 lab	a86b617ec4
6:161127589 PLG G>A	6	161127589	161127589	G	A	PLG	c.185+15G>A	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161127589G>A	(Likely) benign	1 lab	a86e2ec6e2
3:49570350 DAG1 C>T	3	49570350	49570350	C	T	DAG1	c.2406C>T	NM_001165928.3	NP_001159400.2:p.(Asp802=)	NC_000003.11:g.49570350C>T	(Likely) benign	1 lab	a870e04ee4
12:103249042 PAH G>A	12	103249042	103249042	G	A	PAH	c.578C>T	NM_000277.3	NP_000268.1:p.(Thr193Ile)	NC_000012.11:g.103249042G>A	(Likely) pathogenic	1 lab	a872701233
X:67331934 OPHN1 G>C	X	67331934	67331934	G	C	OPHN1	c.1421-133C>G	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67331934G>C	(Likely) benign	1 lab	a87299c4c2
11:2906648 CDKN1C T>C	11	2906648	2906648	T	C	CDKN1C	c.72A>G	NM_000076.2	NP_000067.1:p.(Leu24=)	NC_000011.9:g.2906648T>C	(Likely) benign	1 lab	a8777bff39
10:104161191 NFKB2 C>T	10	104161191	104161191	C	T	NFKB2	c.2224-15C>T	NM_001077494.3	NP_001070962.1:p.?	NC_000010.10:g.104161191C>T	(Likely) benign	1 lab	a878e72454
X:54482633 FGD1 A>G	X	54482633	54482633	A	G	FGD1	c.1842+20T>C	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54482633A>G	(Likely) benign	1 lab	a87c922f24
6:32809318 PSMB8 G>A	6	32809318	32809318	G	A	PSMB8	c.732C>T	NM_148919.4	NP_683720.2:p.(Gly244=)	NC_000006.11:g.32809318G>A	(Likely) benign	1 lab	a87cc2920f
13:32913619 BRCA2 TTATG>T	13	32913619	32913625	TTATG	T	BRCA2	c.5130_5133del	NM_000059.4	NP_000050.3:p.(Tyr1710Ter)	NC_000013.10:g.32913622_32913625del	(Likely) pathogenic	1 lab	d522ec24cf
4:57333821 SRP72 G>A	4	57333821	57333821	G	A	SRP72	c.20G>A	NM_006947.4	NP_008878.3:p.(Gly7Glu)	NC_000004.11:g.57333821G>A	(Likely) benign	1 lab	a888126802
17:41244891 BRCA1 G>A	17	41244891	41244891	G	A	BRCA1	c.2657C>T	NM_007294.3	NP_009225.1:p.(Ser886Phe)	NC_000017.10:g.41244891G>A	(Likely) benign	1 lab	a889663d75
9:14824927 FREM1 G>A	9	14824927	14824927	G	A	FREM1	c.1945C>T	NM_144966.5	NP_659403.4:p.(Arg649Trp)	NC_000009.11:g.14824927G>A	VUS	1 lab	a88ad2910a
16:53913911 FTO C>CT	16	53913911	53913924	C	CT	FTO	c.1119+25dup	NM_001080432.3	NP_001073901.1:p.?	NC_000016.9:g.53913924dup	(Likely) benign	1 lab	a88cb3b7d6
16:3294283 MEFV G>C	16	3294283	3294283	G	C	MEFV	c.1730C>G	NM_000243.2	NP_000234.1:p.(Thr577Ser)	NC_000016.9:g.3294283G>C	(Likely) pathogenic	1 lab	a892258e01
1:155159997 MUC1 C>T	1	155159997	155159997	C	T	MUC1	c.1164G>A	NM_001204286.1	NP_001191215.1:p.(Trp388Ter)	NC_000001.10:g.155159997C>T	VUS	1 lab	a8944c303a
14:65270527 SPTB A>G	14	65270527	65270527	A	G	SPTB	c.301-29T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65270527A>G	(Likely) benign	1 lab	aac18086c3
18:52928807 TCF4 C>T	18	52928807	52928807	C	T	TCF4	c.923-43G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52928807C>T	(Likely) benign	1 lab	a896891c2c
17:4906146 KIF1C GCC>G	17	4906146	4906157	GCC	G	KIF1C	c.720+19_720+20del	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4906156_4906157del	(Likely) benign	1 lab	a896dc3da3
10:102509565 PAX2 G>A	10	102509565	102509565	G	A	PAX2	c.106G>A	NM_003988.5	NP_003979.2:p.(Val36Met)	NC_000010.10:g.102509565G>A	VUS	1 lab	a899091044
2:232597706 PDE6D C>T	2	232597706	232597706	C	T	PDE6D	c.409G>A	NM_002601.4	NP_002592.1:p.(Asp137Asn)	NC_000002.11:g.232597706C>T	(Likely) benign	1 lab	a89c618213
11:61545904 MYRF C>T	11	61545904	61545904	C	T	MYRF	c.1956C>T	NM_001127392.3	NP_001120864.1:p.(Thr652=)	NC_000011.9:g.61545904C>T	(Likely) benign	1 lab	d522f1d101
X:40982956 USP9X GC>G	X	40982956	40982963	GC	G	USP9X	c.82del	NM_001039591.3	NP_001034680.2:p.(Leu28SerfsTer51)	NC_000023.10:g.40982963del	(Likely) pathogenic	1 lab	a8a8ff47fb
14:65258644 SPTB C>G	14	65258644	65258644	C	G	SPTB	c.2667-70G>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65258644C>G	(Likely) benign	1 lab	a8ae1d536d
18:29100929 DSG2 T>G	18	29100929	29100929	T	G	DSG2	c.378+2T>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29100929T>G	(Likely) pathogenic	1 lab	a8ae3a3432
8:90967756 NBN G>C	8	90967756	90967756	G	C	NBN	c.1152C>G	NM_002485.4	NP_002476.2:p.(Ile384Met)	NC_000008.10:g.90967756G>C	(Likely) benign	1 lab	a8af8677ad
16:3293259 MEFV A>T	16	3293259	3293259	A	T	MEFV	c.2228T>A	NM_000243.2	NP_000234.1:p.(Phe743Tyr)	NC_000016.9:g.3293259A>T	VUS	1 lab	a8b2180e78
17:40939482 WNK4 C>T	17	40939482	40939482	C	T	WNK4	c.1663C>T	NM_032387.5	NP_115763.2:p.(Pro555Ser)	NC_000017.10:g.40939482C>T	VUS	1 lab	a8b53ec375
X:153223236 HCFC1 G>A	X	153223236	153223236	G	A	HCFC1	c.2130C>T	NM_005334.3	NP_005325.2:p.(Ile710=)	NC_000023.10:g.153223236G>A	(Likely) benign	1 lab	a8bec7d5ed
19:54307212 NLRP12 G>C	19	54307212	54307212	G	C	NLRP12	c.2579C>G	NM_144687.4	NP_653288.1:p.(Thr860Ser)	NC_000019.9:g.54307212G>C	(Likely) benign	1 lab	a8c0ffe711
20:42747203 JPH2 CT>C	20	42747203	42747204	CT	C	JPH2	c.1229del	NM_020433.5	NP_065166.2:p.(Gln410ArgfsTer98)	NC_000020.10:g.42747204del	VUS	1 lab	a8c200f474
3:184045054 EIF4G1 G>A	3	184045054	184045054	G	A	EIF4G1	c.3479G>A	NM_198241.3	NP_937884.2:p.(Arg1160His)	NC_000003.11:g.184045054G>A	(Likely) benign	1 lab	d523a71c50
1:230841891 AGT G>A	1	230841891	230841891	G	A	AGT	c.912C>T	NM_000029.4	NP_000020.1:p.(Asn304=)	NC_000001.10:g.230841891G>A	(Likely) benign	1 lab	a8c9a08e07
17:36059246 HNF1B A>C	17	36059246	36059246	A	C	HNF1B	c.1535-46T>G	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36059246A>C	(Likely) benign	1 lab	a8ca26f1d6
5:161520947 GABRG2 T>C	5	161520947	161520947	T	C	GABRG2				NC_000005.9:g.161520947T>C	(Likely) pathogenic	1 lab	a8d1495382
16:81946226 PLCG2 C>T	16	81946226	81946226	C	T	PLCG2	c.1959C>T	NM_002661.3	NP_002652.2:p.(Arg653=)	NC_000016.9:g.81946226C>T	(Likely) benign	1 lab	a8d3043a50
13:32910610 BRCA2 T>C	13	32910610	32910610	T	C	BRCA2	c.2118T>C	NM_000059.3	NP_000050.2:p.(Ala706=)	NC_000013.10:g.32910610T>C	(Likely) benign	1 lab	a8dabf52f7
12:110012649 MVK G>C	12	110012649	110012649	G	C	MVK	c.22G>C	NM_000431.2	NP_000422.1:p.(Val8Leu)	NC_000012.11:g.110012649G>C	VUS	1 lab	a8dbb5ad13
1:59155874 MYSM1 TAAATATA>T	1	59155874	59155889	TAAATATA	T	MYSM1	c.320+17_320+23del	NM_001085487.3	NP_001078956.1:p.?	NC_000001.10:g.59155883_59155889del	(Likely) benign	1 lab	a8dc4c8dc7
3:132416206 NPHP3 C>T	3	132416206	132416206	C	T	NPHP3	c.1986G>A	NM_153240.5	NP_694972.3:p.(Arg662=)	NC_000003.11:g.132416206C>T	(Likely) benign	1 lab	a8e627b3ea
1:228404165 OBSCN C>T	1	228404165	228404165	C	T	OBSCN	c.2139C>T	NM_001271223.2	NP_001258152.2:p.(Ala713=)	NC_000001.10:g.228404165C>T	(Likely) benign	1 lab	a8eef041d7
15:68503669 CLN6 C>T	15	68503669	68503669	C	T	CLN6	c.487-13G>A	NM_017882.3	NP_060352.1:p.?	NC_000015.9:g.68503669C>T	(Likely) benign	1 lab	a8f083ff94
12:6443266 TNFRSF1A A>C	12	6443266	6443266	A	C	TNFRSF1A	c.184T>G	NM_001065.3	NP_001056.1:p.(Cys62Gly)	NC_000012.11:g.6443266A>C	(Likely) pathogenic	1 lab	a8f543e83c
7:103136238 RELN CCTT>C	7	103136238	103136244	CCTT	C	RELN	c.9298_9300del	NM_005045.4	NP_005036.2:p.(Lys3100del)	NC_000007.13:g.103136242_103136244del	(Likely) benign	1 lab	a8f609fb48
9:135140255 SETX G>A	9	135140255	135140255	G	A	SETX	c.7405C>T	NM_015046.5	NP_055861.3:p.(Leu2469=)	NC_000009.11:g.135140255G>A	VUS	1 lab	a8f6477e87
14:65262190 SPTB CT>C	14	65262190	65262192	CT	C	SPTB	c.1508del	NM_001355436.2	NP_001342365.1:p.(Lys503ArgfsTer70)	NC_000014.8:g.65262192del	(Likely) pathogenic	1 lab	a8f7e51738
5:89922886 ADGRV1 CA>C	5	89922886	89922888	CA	C	ADGRV1	c.673-140del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89922888del	(Likely) benign	1 lab	a908c2a30b
1:158605747 SPTA1 C>T	1	158605747	158605747	C	T	SPTA1	c.5388G>A	NM_003126.3	NP_003117.2:p.(Gln1796=)	NC_000001.10:g.158605747C>T	(Likely) benign	1 lab	a90d91ae29
18:34322791 FHOD3 C>A	18	34322791	34322791	C	A	FHOD3	c.3326C>A	NM_025135.5	NP_079411.2:p.(Ala1109Asp)	NC_000018.9:g.34322791C>A	VUS	1 lab	d52c93dd6b
1:237838155 RYR2 C>T	1	237838155	237838155	C	T	RYR2	c.8830+9C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237838155C>T	(Likely) benign	1 lab	a9157c7b4c
10:27335399 ANKRD26 C>T	10	27335399	27335399	C	T	ANKRD26	c.1868G>A	NM_014915.2	NP_055730.2:p.(Arg623Gln)	NC_000010.10:g.27335399C>T	(Likely) benign	1 lab	a916d8a4ae
19:17899075 FCHO1 A>C	19	17899075	17899075	A	C	FCHO1	c.2648-18A>C	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17899075A>C	(Likely) benign	1 lab	a9171887b4
10:96353289 HELLS A>T	10	96353289	96353289	A	T	HELLS	c.2005A>T	NM_018063.5	NP_060533.2:p.(Ile669Phe)	NC_000010.10:g.96353289A>T	(Likely) benign	1 lab	a917bef7cf
15:59506517 MYO1E G>GA	15	59506517	59506526	G	GA	MYO1E	c.1189-5dup	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59506526dup	(Likely) benign	1 lab	a91d375408
X:1404795 CSF2RA C>G	X	1404795	1404795	C	G	CSF2RA	c.201C>G	NM_001161530.1	NP_001155002.1:p.(Asn67Lys)	NC_000023.10:g.1404795C>G	(Likely) benign	1 lab	a921671cbf
10:45430153 TMEM72 G>A	10	45430153	45430153	G	A	TMEM72	c.399G>A	NM_001123376.3	NP_001116848.1:p.(Arg133=)	NC_000010.10:g.45430153G>A	(Likely) benign	1 lab	a9241aa38c
4:166996085 TLL1 G>A	4	166996085	166996085	G	A	TLL1	c.2244G>A	NM_012464.5	NP_036596.3:p.(Thr748=)	NC_000004.11:g.166996085G>A	(Likely) benign	1 lab	a925a05f3b
19:10471789 TYK2 A>T	19	10471789	10471789	A	T	TYK2	c.2047+398T>A	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10471789A>T	(Likely) benign	1 lab	a926e2d20a
15:48787745 FBN1 G>C	15	48787745	48787745	G	C	FBN1	c.2460C>G	NM_000138.4	NP_000129.3:p.(Val820=)	NC_000015.9:g.48787745G>C	(Likely) benign	1 lab	a927072d34
18:10474215 APCDD1 G>T	18	10474215	10474215	G	T	APCDD1	c.774+2157G>T	NM_153000.5	NP_694545.1:p.?	NC_000018.9:g.10474215G>T	(Likely) benign	1 lab	d52e64a730
6:47576969 CD2AP T>A	6	47576969	47576969	T	A	CD2AP	c.1743T>A	NM_012120.3	NP_036252.1:p.(Asn581Lys)	NC_000006.11:g.47576969T>A	(Likely) benign	1 lab	a92eb05408
17:18148534 FLII C>T	17	18148534	18148534	C	T	FLII	c.3695G>A	NM_001256264.2	NP_001243193.1:p.(Arg1232His)	NC_000017.10:g.18148534C>T	(Likely) benign	1 lab	a92ede2439
10:52834380 PRKG1 G>A	10	52834380	52834380	G	A	PRKG1	c.30G>A	NM_006258.4	NP_006249.1:p.(Ala10=)	NC_000010.10:g.52834380G>A	(Likely) benign	1 lab	a9315964d0
21:34655334 IL10RB GA>G	21	34655334	34655345	GA	G	IL10RB	c.499-54del	NM_000628.5	NP_000619.3:p.?	NC_000021.8:g.34655345del	(Likely) benign	1 lab	a934b1c78d
2:191929550 STAT4 G>A	2	191929550	191929550	G	A	STAT4	c.765C>T	NM_003151.4	NP_003142.1:p.(Leu255=)	NC_000002.11:g.191929550G>A	(Likely) benign	1 lab	a937d76531
5:35876458 IL7R C>T	5	35876458	35876458	C	T	IL7R				NC_000005.9:g.35876458C>T	(Likely) benign	1 lab	a940478f8e
3:184090266 THPO C>T	3	184090266	184090266	C	T	THPO	c.*35G>A	NM_000460.4	NP_000451.1:p.?	NC_000003.11:g.184090266C>T	(Likely) benign	1 lab	a94251f34c
8:100654320 VPS13B G>A	8	100654320	100654320	G	A	VPS13B	c.5577G>A	NM_017890.4	NP_060360.3:p.(Ser1859=)	NC_000008.10:g.100654320G>A	(Likely) benign	1 lab	a947aa566a
16:2155311 PKD1 G>C	16	2155311	2155311	G	C	PKD1	c.8016+12C>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2155311G>C	(Likely) benign	1 lab	a94b95c4f1
7:103137186 RELN C>A	7	103137186	103137186	C	A	RELN	c.8980G>T	NM_005045.4	NP_005036.2:p.(Asp2994Tyr)	NC_000007.13:g.103137186C>A	VUS	1 lab	a94dc2c6a6
17:17700937 RAI1 C>T	17	17700937	17700937	C	T	RAI1	c.4675C>T	NM_030665.4	NP_109590.3:p.(Arg1559Ter)	NC_000017.10:g.17700937C>T	(Likely) pathogenic	1 lab	a94ed050e9
20:31387096 DNMT3B C>G	20	31387096	31387096	C	G	DNMT3B	c.1721C>G	NM_006892.3	NP_008823.1:p.(Pro574Arg)	NC_000020.10:g.31387096C>G	VUS	1 lab	a94f7d4603
6:32939821 BRD2 G>A	6	32939821	32939821	G	A	BRD2	c.-855G>A	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32939821G>A	(Likely) benign	1 lab	a95236014f
17:36091748 HNF1B G>A	17	36091748	36091748	G	A	HNF1B	c.883C>T	NM_000458.4	NP_000449.1:p.(Arg295Cys)	NC_000017.10:g.36091748G>A	(Likely) pathogenic	1 lab	a958c00b23
9:130616621 ENG G>T	9	130616621	130616621	G	T	ENG	c.14C>A	NM_000118.3	NP_000109.1:p.(Thr5Lys)	NC_000009.11:g.130616621G>T	VUS	1 lab	a95a12bb30
3:48615770 COL7A1 C>T	3	48615770	48615770	C	T	COL7A1	c.5516G>A	NM_000094.4	NP_000085.1:p.(Gly1839Asp)	NC_000003.11:g.48615770C>T	(Likely) pathogenic	1 lab	d5360c5c0e
4:95561564 PDLIM5 C>T	4	95561564	95561564	C	T	PDLIM5	c.1333C>T	NM_001256426.1	NP_001243355.1:p.(Arg445Ter)	NC_000004.11:g.95561564C>T	VUS	1 lab	a964428efe
21:38853089 DYRK1A C>G	21	38853089	38853089	C	G	DYRK1A	c.477C>G	NM_001396.5	NP_001387.2:p.(Tyr159Ter)	NC_000021.8:g.38853089C>G	(Likely) pathogenic	1 lab	da292f2196
18:60035978 TNFRSF11A T>C	18	60035978	60035978	T	C	TNFRSF11A	c.786T>C	NM_001278268.2	NP_001265197.1:p.(Phe262=)	NC_000018.9:g.60035978T>C	(Likely) benign	1 lab	a99c6a225d
22:50885580 SBF1 C>T	22	50885580	50885580	C	T	SBF1	c.5673G>A	NM_002972.4	NP_002963.2:p.(Ser1891=)	NC_000022.10:g.50885580C>T	(Likely) benign	1 lab	a96fe172db
12:2794999 CACNA1C G>C	12	2794999	2794999	G	C	CACNA1C	c.5920G>C	NM_199460.3	NP_955630.3:p.(Ala1974Pro)	NC_000012.11:g.2794999G>C	(Likely) benign	1 lab	a971bfffce
7:116371705 MET AC>A	7	116371705	116371707	AC	A	MET	c.1201-15del	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116371707del	(Likely) benign	1 lab	a9793cd50f
3:121980143 CASR T>C	3	121980143	121980143	T	C	CASR	c.493-232T>C	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.121980143T>C	(Likely) benign	1 lab	a97d50ac31
12:110019222 MVK G>A	12	110019222	110019222	G	A	MVK	c.394G>A	NM_000431.2	NP_000422.1:p.(Val132Ile)	NC_000012.11:g.110019222G>A	(Likely) pathogenic	1 lab	a97e60c837
X:100625068 BTK C>T	X	100625068	100625068	C	T	BTK	c.310-1G>A	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100625068C>T	(Likely) pathogenic	1 lab	a97ef9fb4d
11:63978933 FERMT3 G>A	11	63978933	63978933	G	A	FERMT3	c.683+18G>A	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63978933G>A	(Likely) benign	1 lab	a97fcf71de
12:66932672 GRIP1 C>T	12	66932672	66932672	C	T	GRIP1	c.418+186G>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66932672C>T	(Likely) benign	1 lab	a9809212f0
X:32430325 DMD A>C	X	32430325	32430325	A	C	DMD	c.2T>G	NM_004011.4	NP_004002.3:p.(Met1?)	NC_000023.10:g.32430325A>C	VUS	1 lab	a9836a6293
3:38616892 SCN5A C>T	3	38616892	38616892	C	T	SCN5A	c.3562G>A	NM_001099404.1	NP_001092874.1:p.(Gly1188Arg)	NC_000003.11:g.38616892C>T	VUS	1 lab	a987bd4b13
15:73635851 HCN4 G>A	15	73635851	73635851	G	A	HCN4	c.1084C>T	NM_005477.3	NP_005468.1:p.(Arg362Cys)	NC_000015.9:g.73635851G>A	VUS	1 lab	a98d10e4d5
7:91714206 AKAP9 A>C	7	91714206	91714206	A	C	AKAP9	c.8784A>C	NM_005751.4	NP_005742.4:p.(Arg2928=)	NC_000007.13:g.91714206A>C	(Likely) benign	1 lab	a992d31a82
20:61980994 CHRNA4 G>A	20	61980994	61980994	G	A	CHRNA4	c.1758+11C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61980994G>A	(Likely) benign	1 lab	a99e71685b
X:153296656 MECP2 T>G	X	153296656	153296656	T	G	MECP2	c.623A>C	NM_004992.3	NP_004983.1:p.(Gln208Pro)	NC_000023.10:g.153296656T>G	(Likely) benign	1 lab	a99f964fcf
7:117227774 CFTR T>C	7	117227774	117227774	T	C	CFTR	c.1585-19T>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117227774T>C	(Likely) benign	1 lab	a99fc02174
2:202574906 ALS2 A>AT	2	202574906	202574913	A	AT	ALS2	c.4123-146dup	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202574913dup	(Likely) benign	1 lab	a9a0858515
7:111540494 DOCK4 T>C	7	111540494	111540494	T	C	DOCK4	c.1416A>G	NM_014705.4	NP_055520.3:p.(Lys472=)	NC_000007.13:g.111540494T>C	(Likely) benign	1 lab	a9a4a37cd7
5:37010328 NIPBL G>C	5	37010328	37010328	G	C	NIPBL	c.4560+1G>C	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37010328G>C	(Likely) pathogenic	1 lab	a9a505a255
17:26851676 FOXN1 C>G	17	26851676	26851676	C	G	FOXN1	c.279C>G	NM_003593.2	NP_003584.2:p.(Leu93=)	NC_000017.10:g.26851676C>G	(Likely) benign	1 lab	a9a82dff3a
X:153760494 G6PD C>T	X	153760494	153760494	C	T	G6PD	c.1366G>A	NM_001042351.2	NP_001035810.1:p.(Asp456Asn)	NC_000023.10:g.153760494C>T	(Likely) pathogenic	1 lab	a9aa04ac9c
1:16382258 CLCNKB C>T	1	16382258	16382258	C	T	CLCNKB	c.1929+5C>T	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16382258C>T	(Likely) benign	1 lab	a9abdf0088
1:247587964 NLRP3 A>C	1	247587964	247587964	A	C	NLRP3	c.1213A>C	NM_001243133.2	NP_001230062.1:p.(Thr405Pro)	NC_000001.10:g.247587964A>C	(Likely) pathogenic	1 lab	a9acf82854
2:109524409 EDAR G>A	2	109524409	109524409	G	A	EDAR	c.870C>T	NM_022336.4	NP_071731.1:p.(Pro290=)	NC_000002.11:g.109524409G>A	(Likely) benign	1 lab	a9ad6bfe33
8:94767979 TMEM67 CTT>C	8	94767979	94768003	CTT	C	TMEM67	c.224-4_224-3del	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94768002_94768003del	(Likely) benign	1 lab	a9b2b5a193
16:81819651 PLCG2 G>A	16	81819651	81819651	G	A	PLCG2	c.57G>A	NM_002661.3	NP_002652.2:p.(Lys19=)	NC_000016.9:g.81819651G>A	(Likely) benign	1 lab	a9b40a5d48
13:52524476 ATP7B C>T	13	52524476	52524476	C	T	ATP7B	c.2507G>A	NM_000053.4	NP_000044.2:p.(Gly836Glu)	NC_000013.10:g.52524476C>T	(Likely) pathogenic	1 lab	a9b4e04fc5
7:128491626 FLNC T>C	7	128491626	128491626	T	C	FLNC	c.5786T>C	NM_001458.4	NP_001449.3:p.(Ile1929Thr)	NC_000007.13:g.128491626T>C	VUS	1 lab	a9bd001e41
13:23910089 SACS A>T	13	23910089	23910089	A	T	SACS	c.7926T>A	NM_014363.6	NP_055178.3:p.(Asn2642Lys)	NC_000013.10:g.23910089A>T	VUS	1 lab	a9be2a4741
X:25025056 ARX AT>A	X	25025056	25025067	AT	A	ARX	c.1448+171del	NM_139058.3	NP_620689.1:p.?	NC_000023.10:g.25025067del	(Likely) benign	1 lab	a9c5038bb5
11:118370593 KMT2A C>T	11	118370593	118370593	C	T	KMT2A	c.6123C>T	NM_001197104.1	NP_001184033.1:p.(Ser2041=)	NC_000011.9:g.118370593C>T	(Likely) benign	1 lab	a9c760c5df
1:154544651 CHRNB2 G>T	1	154544651	154544651	G	T	CHRNB2	c.1338+14G>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154544651G>T	(Likely) benign	1 lab	a9cbfa8727
6:24532412 ALDH5A1 G>A	6	24532412	24532412	G	A	ALDH5A1	c.1441+7G>A	NM_170740.1	NP_733936.1:p.?	NC_000006.11:g.24532412G>A	(Likely) benign	1 lab	d538edeeab
7:42187829 GLI3 G>A	7	42187829	42187829	G	A	GLI3	c.363C>T	NM_000168.6	NP_000159.3:p.(His121=)	NC_000007.13:g.42187829G>A	(Likely) benign	1 lab	a9cf147165
X:18602454 CDKL5 T>A	X	18602454	18602454	T	A	CDKL5	c.535T>A	NM_001037343.1	NP_001032420.1:p.(Ser179Thr)	NC_000023.10:g.18602454T>A	(Likely) pathogenic	1 lab	a9d1a24c3d
14:58724443 PSMA3 A>C	14	58724443	58724443	A	C	PSMA3	c.229-20A>C	NM_002788.4	NP_002779.1:p.?	NC_000014.8:g.58724443A>C	(Likely) benign	1 lab	a9d669c0d3
3:52486154 TNNC1 A>G	3	52486154	52486154	A	G	TNNC1	c.170T>C	NM_003280.2	NP_003271.1:p.(Leu57Pro)	NC_000003.11:g.52486154A>G	VUS	1 lab	a9dbfd227a
3:39229229 XIRP1 G>A	3	39229229	39229229	G	A	XIRP1	c.1708C>T	NM_194293.4	NP_919269.2:p.(Arg570Ter)	NC_000003.11:g.39229229G>A	(Likely) pathogenic	1 lab	a9df35d673
X:153590429 FLNA G>T	X	153590429	153590429	G	T	FLNA	c.2744C>A	NM_001110556.2	NP_001104026.1:p.(Thr915Asn)	NC_000023.10:g.153590429G>T	(Likely) benign	1 lab	a9df3f5c98
19:10488926 TYK2 C>T	19	10488926	10488926	C	T	TYK2	c.157G>A	NM_003331.4	NP_003322.3:p.(Ala53Thr)	NC_000019.9:g.10488926C>T	(Likely) benign	1 lab	a9dfd5fa46
22:40757359 ADSL T>C	22	40757359	40757359	T	C	ADSL	c.862+13T>C	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40757359T>C	(Likely) benign	1 lab	a9e0bb1893
20:61978127 CHRNA4 C>A	20	61978127	61978127	C	A	CHRNA4	c.1847G>T	NM_000744.6	NP_000735.1:p.(Gly616Val)	NC_000020.10:g.61978127C>A	(Likely) pathogenic	1 lab	a9e13f1df7
2:166868772 SCN1A A>G	2	166868772	166868772	A	G	SCN1A	c.3726T>C	NM_001165963.3	NP_001159435.1:p.(Ile1242=)	NC_000002.11:g.166868772A>G	(Likely) benign	1 lab	a9e2e8e029
14:76437524 TGFB3 G>A	14	76437524	76437524	G	A	TGFB3	c.591C>T	NM_003239.2	NP_003230.1:p.(Ala197=)	NC_000014.8:g.76437524G>A	(Likely) benign	1 lab	a9e4c988ab
17:73732678 ITGB4 C>G	17	73732678	73732678	C	G	ITGB4	c.1893C>G	NM_000213.5	NP_000204.3:p.(Ser631=)	NC_000017.10:g.73732678C>G	(Likely) benign	1 lab	a9e7bbbde6
15:73617369 HCN4 G>A	15	73617369	73617369	G	A	HCN4	c.1905C>T	NM_005477.3	NP_005468.1:p.(Ile635=)	NC_000015.9:g.73617369G>A	(Likely) benign	1 lab	a9eb1d4554
4:110670616 CFI T>C	4	110670616	110670616	T	C	CFI	c.1044+39A>G	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110670616T>C	(Likely) benign	1 lab	a9edf1240a
19:36218878 KMT2B C>T	19	36218878	36218878	C	T	KMT2B	c.4489C>T	NM_014727.2	NP_055542.1:p.(Leu1497=)	NC_000019.9:g.36218878C>T	(Likely) benign	1 lab	a9ee615a05
19:55525818 GP6 C>T	19	55525818	55525818	C	T	GP6	c.1495G>A	NM_001083899.2	NP_001077368.2:p.(Gly499Ser)	NC_000019.9:g.55525818C>T	(Likely) benign	1 lab	a9f10e05c4
9:108380227 FKTN A>G	9	108380227	108380227	A	G	FKTN	c.515-13A>G	NM_001351502.2	NP_001338431.1:p.?	NC_000009.11:g.108380227A>G	VUS	1 lab	a9f3ee2d7c
2:227886753 COL4A4 G>A	2	227886753	227886753	G	A	COL4A4	c.4216+11C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227886753G>A	(Likely) benign	1 lab	a9fd965862
15:63351856 TPM1 G>A	15	63351856	63351856	G	A	TPM1	c.361G>A	NM_001330351.2	NP_001317280.1:p.(Asp121Asn)	NC_000015.9:g.63351856G>A	VUS	1 lab	a9fdeb5916
16:30080005 ALDOA C>T	16	30080005	30080005	C	T	ALDOA				NC_000016.9:g.30080005C>T	VUS	1 lab	aa051cff3b
17:40932732 WNK4 G>A	17	40932732	40932732	G	A	WNK4	c.16G>A	NM_032387.5	NP_115763.2:p.(Ala6Thr)	NC_000017.10:g.40932732G>A	(Likely) benign	1 lab	aa082d04d6
2:211441128 CPS1 C>A	2	211441128	211441128	C	A	CPS1	c.295C>A	NM_001875.5	NP_001866.2:p.(Pro99Thr)	NC_000002.11:g.211441128C>A	VUS	1 lab	d53ff3a1e2
1:245027469 HNRNPU G>A	1	245027469	245027469	G	A	HNRNPU	c.141C>T	NM_031844.3	NP_114032.2:p.(Ala47=)	NC_000001.10:g.245027469G>A	(Likely) benign	1 lab	aa0afe6e61
8:11617240 GATA4 A>T	8	11617240	11617240	A	T	GATA4	c.*1256A>T	NM_002052.5	NP_002043.2:p.?	NC_000008.10:g.11617240A>T	(Likely) benign	1 lab	aa13e2c85d
2:44531348 SLC3A1 T>TA	2	44531348	44531349	T	TA	SLC3A1	c.1204dup	NM_000341.4	NP_000332.2:p.(Ile402AsnfsTer5)	NC_000002.11:g.44531349dup	(Likely) pathogenic	1 lab	aa18494ccf
13:37393806 RFXAP C>T	13	37393806	37393806	C	T	RFXAP	c.312C>T	NM_000538.3	NP_000529.1:p.(Ser104=)	NC_000013.10:g.37393806C>T	(Likely) benign	1 lab	aa1f7c57f7
22:50964236 TYMP G>A	22	50964236	50964236	G	A	TYMP	c.1412C>T	NM_001953.5	NP_001944.1:p.(Ser471Leu)	NC_000022.10:g.50964236G>A	(Likely) benign	1 lab	aa0d7dfe2a
6:85466460 TBX18 C>T	6	85466460	85466460	C	T	TBX18	c.727G>A	NM_001080508.3	NP_001073977.1:p.(Asp243Asn)	NC_000006.11:g.85466460C>T	VUS	1 lab	aa2eed5f8e
11:45957234 MISSING G>A	11	45957234	45957234	G	A	MISSING				NC_000011.9:g.45957234G>A	(Likely) pathogenic	1 lab	aa30a0ca44
19:10472635 TYK2 C>G	19	10472635	10472635	C	G	TYK2	c.1774-4G>C	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10472635C>G	(Likely) benign	1 lab	ab54f53bd4
12:103234249 PAH T>G	12	103234249	103234249	T	G	PAH	c.1244A>C	NM_000277.3	NP_000268.1:p.(Asp415Ala)	NC_000012.11:g.103234249T>G	(Likely) pathogenic	1 lab	aa31e76e0b
19:7117188 INSR C>T	19	7117188	7117188	C	T	INSR	c.4028G>A	NM_000208.4	NP_000199.2:p.(Arg1343Gln)	NC_000019.9:g.7117188C>T	VUS	1 lab	d5493e89d1
3:77542380 ROBO2 A>AT	3	77542380	77542390	A	AT	ROBO2	c.668-5dup	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77542390dup	(Likely) benign	1 lab	aa398ab908
11:47362675 MYBPC3 T>A	11	47362675	47362675	T	A	MYBPC3	c.1897+14A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362675T>A	(Likely) benign	1 lab	aa3c080524
1:155261681 PKLR G>A	1	155261681	155261681	G	A	PKLR	c.1484C>T	NM_000298.6	NP_000289.1:p.(Ala495Val)	NC_000001.10:g.155261681G>A	(Likely) pathogenic	1 lab	aa3ffd5956
1:22987544 C1QB G>A	1	22987544	22987544	G	A	C1QB	c.427G>A	NM_000491.3	NP_000482.3:p.(Asp143Asn)	NC_000001.10:g.22987544G>A	(Likely) benign	1 lab	aa43b19964
22:40816514 MRTFA G>A	22	40816514	40816514	G	A	MRTFA	c.1248C>T	NM_020831.6	NP_065882.2:p.(Ser416=)	NC_000022.10:g.40816514G>A	(Likely) benign	1 lab	aa4f387b38
19:18183095 IL12RB1 C>T	19	18183095	18183095	C	T	IL12RB1	c.848G>A	NM_005535.1	NP_005526.1:p.(Arg283Gln)	NC_000019.9:g.18183095C>T	(Likely) benign	1 lab	aa5ae6d28b
7:73474236 ELN G>A	7	73474236	73474236	G	A	ELN	c.1522G>A	NM_001278939.1	NP_001265868.1:p.(Val508Met)	NC_000007.13:g.73474236G>A	VUS	1 lab	aa5b7390cf
11:65308777 LTBP3 C>T	11	65308777	65308777	C	T	LTBP3	c.2726-13G>A	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65308777C>T	(Likely) benign	1 lab	aa5edd0953
8:2057337 MYOM2 G>T	8	2057337	2057337	G	T	MYOM2	c.3180+15G>T	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2057337G>T	(Likely) benign	1 lab	aa5ee9ce7a
19:36336450 NPHS1 A>C	19	36336450	36336450	A	C	NPHS1	c.1758-8T>G	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36336450A>C	(Likely) benign	1 lab	aa6055668d
5:90025373 ADGRV1 ATTT>A	5	90025373	90025378	ATTT	A	ADGRV1	c.10427-83_10427-81del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90025376_90025378del	(Likely) benign	1 lab	aa62b4dd7e
X:53658584 HUWE1 A>G	X	53658584	53658584	A	G	HUWE1	c.646-18T>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53658584A>G	(Likely) benign	1 lab	aa65aa20e4
2:69379325 ANTXR1 G>A	2	69379325	69379325	G	A	ANTXR1	c.976G>A	NM_032208.3	NP_115584.1:p.(Ala326Thr)	NC_000002.11:g.69379325G>A	VUS	1 lab	d54a0b509f
2:166234075 SCN2A GA>G	2	166234075	166234081	GA	G	SCN2A	c.4255-26del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166234081del	(Likely) benign	1 lab	aa686993b6
3:53219600 PRKCD C>G	3	53219600	53219600	C	G	PRKCD	c.889-20C>G	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53219600C>G	(Likely) benign	1 lab	aa6909182a
2:216249686 FN1 C>T	2	216249686	216249686	C	T	FN1	c.4626G>A	NM_212482.2	NP_997647.1:p.(Pro1542=)	NC_000002.11:g.216249686C>T	(Likely) benign	1 lab	aa69615734
10:21186077 NEBL C>T	10	21186077	21186077	C	T	NEBL	c.58G>A	NM_006393.2	NP_006384.1:p.(Glu20Lys)	NC_000010.10:g.21186077C>T	VUS	1 lab	aa6c5cde44
9:73254044 TRPM3 G>A	9	73254044	73254044	G	A	TRPM3	c.1054C>T	NM_020952.6	NP_066003.3:p.(Leu352Phe)	NC_000009.11:g.73254044G>A	VUS	1 lab	d54a294b49
12:110034307 MVK C>G	12	110034307	110034307	C	G	MVK	c.1116C>G	NM_000431.2	NP_000422.1:p.(Ile372Met)	NC_000012.11:g.110034307C>G	VUS	1 lab	aa76e60ddd
14:64898585 MTHFD1 CT>C	14	64898585	64898592	CT	C	MTHFD1	c.1494+13del	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64898592del	(Likely) benign	1 lab	aa77c77172
20:10625787 JAG1 T>TAGTTACATAAAGTTGTAACATA	20	10625787	10625788	T	TAGTTACATAAAGTTGTAACATA	JAG1	c.2227+3_2227+4insTATGTTACAACTTTATGTAACT	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625787_10625788insAGTTACATAAAGTTGTAACATA	VUS	1 lab	aa7ba4e045
15:78913067 CHRNA3 A>ACAG	15	78913067	78913089	A	ACAG	CHRNA3	c.67_69dup	NM_000743.5	NP_000734.2:p.(Leu23dup)	NC_000015.9:g.78913087_78913089dup	(Likely) benign	1 lab	aa832c635a
7:4829483 AP5Z1 C>A	7	4829483	4829483	C	A	AP5Z1	c.1728C>A	NM_014855.3	NP_055670.1:p.(Ile576=)	NC_000007.13:g.4829483C>A	(Likely) benign	1 lab	aa843a32bf
3:37035130 MLH1 C>G	3	37035130	37035130	C	G	MLH1	c.92C>G	NM_000249.4	NP_000240.1:p.(Ala31Gly)	NC_000003.11:g.37035130C>G	VUS	1 lab	d54cfa4351
13:32914300 BRCA2 G>A	13	32914300	32914300	G	A	BRCA2	c.5808G>A	NM_000059.3	NP_000050.2:p.(Met1936Ile)	NC_000013.10:g.32914300G>A	(Likely) benign	1 lab	aa8a1dfe0c
2:47705498 MSH2 A>G	2	47705498	47705498	A	G	MSH2	c.2298A>G	NM_000251.3	NP_000242.1:p.(Ile766Met)	NC_000002.11:g.47705498A>G	VUS	1 lab	d54db57d65
10:78644699 KCNMA1 A>T	10	78644699	78644699	A	T	KCNMA1	c.3524+2350T>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78644699A>T	(Likely) benign	1 lab	aa8c3e7d14
1:155260412 PKLR C>G	1	155260412	155260412	C	G	PKLR	c.1676G>C	NM_000298.6	NP_000289.1:p.(Arg559Pro)	NC_000001.10:g.155260412C>G	VUS	1 lab	aa8ec86389
17:72763186 NHERF1 G>A	17	72763186	72763186	G	A	NHERF1	c.798+71G>A	NM_004252.5	NP_004243.1:p.?	NC_000017.10:g.72763186G>A	(Likely) benign	1 lab	aa979dea72
22:17589567 IL17RA C>T	22	17589567	17589567	C	T	IL17RA	c.1458C>T	NM_014339.6	NP_055154.3:p.(Ile486=)	NC_000022.10:g.17589567C>T	(Likely) benign	1 lab	aa98585db0
8:143994724 CYP11B2 C>A	8	143994724	143994724	C	A	CYP11B2	c.1098G>T	NM_000498.3	NP_000489.3:p.(Arg366=)	NC_000008.10:g.143994724C>A	(Likely) benign	1 lab	aa9a46bdf0
17:1657653 SERPINF2 G>A	17	1657653	1657653	G	A	SERPINF2	c.1301G>A	NM_000934.4	NP_000925.2:p.(Arg434Lys)	NC_000017.10:g.1657653G>A	(Likely) benign	1 lab	d54ecaf04d
X:73961201 NEXMIF C>T	X	73961201	73961201	C	T	NEXMIF	c.3191G>A	NM_001008537.3	NP_001008537.1:p.(Arg1064His)	NC_000023.10:g.73961201C>T	(Likely) benign	1 lab	aaa158becf
2:179481584 TTN A>AT	2	179481584	179481588	A	AT	TTN	c.48031dup	NM_001267550.1	NP_001254479.1:p.(Met16011AsnfsTer16)	NC_000002.11:g.179481588dup	(Likely) pathogenic	1 lab	aaa66fb6e9
3:137790616 DZIP1L C>T	3	137790616	137790616	C	T	DZIP1L	c.1484G>A	NM_173543.3	NP_775814.2:p.(Arg495Gln)	NC_000003.11:g.137790616C>T	(Likely) benign	1 lab	aaaa47d951
11:118370007 KMT2A T>G	11	118370007	118370007	T	G	KMT2A	c.5962-11T>G	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118370007T>G	(Likely) benign	1 lab	aaab95ef20
12:6442625 TNFRSF1A C>T	12	6442625	6442625	C	T	TNFRSF1A	c.380G>A	NM_001065.3	NP_001056.1:p.(Cys127Tyr)	NC_000012.11:g.6442625C>T	(Likely) pathogenic	1 lab	aab03e903c
6:161135859 PLG A>T	6	161135859	161135859	A	T	PLG	c.581A>T	NM_000301.3	NP_000292.1:p.(Asp194Val)	NC_000006.11:g.161135859A>T	(Likely) benign	1 lab	aab31f436e
9:140127082 SLC34A3 C>A	9	140127082	140127082	C	A	SLC34A3	c.231C>A	NM_080877.2	NP_543153.1:p.(Cys77Ter)	NC_000009.11:g.140127082C>A	(Likely) pathogenic	1 lab	aab32f7349
9:138657109 KCNT1 A>G	9	138657109	138657109	A	G	KCNT1	c.1200+68A>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138657109A>G	(Likely) benign	1 lab	aab4147c8a
13:35770456 NBEA T>C	13	35770456	35770456	T	C	NBEA	c.5366+17T>C	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.35770456T>C	(Likely) benign	1 lab	aab6ad1d17
15:54025248 WDR72 C>A	15	54025248	54025248	C	A	WDR72	c.99G>T	NM_182758.4	NP_877435.3:p.(Val33=)	NC_000015.9:g.54025248C>A	(Likely) benign	1 lab	aab73a3d9c
10:82043672 MAT1A C>G	10	82043672	82043672	C	G	MAT1A	c.292G>C	NM_000429.3	NP_000420.1:p.(Gly98Arg)	NC_000010.10:g.82043672C>G	VUS	1 lab	d556753a4e
2:32289065 SPAST CCCGCTGTTT>C	2	32289065	32289074	CCCGCTGTTT	C	SPAST	c.166_174del	NM_014946.4	NP_055761.2:p.(Pro56_Phe58del)	NC_000002.11:g.32289066_32289074del	VUS	1 lab	d55aea2d52
2:216241347 FN1 T>A	2	216241347	216241347	T	A	FN1	c.5761A>T	NM_212482.2	NP_997647.1:p.(Ile1921Phe)	NC_000002.11:g.216241347T>A	(Likely) benign	1 lab	aac81fdc25
22:32238975 DEPDC5 A>G	22	32238975	32238975	A	G	DEPDC5	c.2516-106A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32238975A>G	(Likely) benign	1 lab	aacae3ce0d
X:154182171 F8 C>T	X	154182171	154182171	C	T	F8	c.1899G>A	NM_000132.3	NP_000123.1:p.(Met633Ile)	NC_000023.10:g.154182171C>T	(Likely) pathogenic	1 lab	aad053bf26
X:32591758 DMD C>T	X	32591758	32591758	C	T	DMD	c.1336-4G>A	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32591758C>T	(Likely) benign	1 lab	aad9732d02
3:10187982 VHL C>T	3	10187982	10187982	C	T	VHL	c.341-216C>T	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10187982C>T	(Likely) benign	1 lab	aad989bd60
12:57492308 STAT6 G>A	12	57492308	57492308	G	A	STAT6	c.2139C>T	NM_001178078.2	NP_001171549.1:p.(Asn713=)	NC_000012.11:g.57492308G>A	(Likely) benign	1 lab	aadab3b0fd
19:54312887 NLRP12 C>T	19	54312887	54312887	C	T	NLRP12	c.2026G>A	NM_144687.4	NP_653288.1:p.(Asp676Asn)	NC_000019.9:g.54312887C>T	VUS	1 lab	d55fb1e90b
10:97452525 TCTN3 CT>C	10	97452525	97452534	CT	C	TCTN3	c.499+151del	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97452534del	(Likely) benign	1 lab	aadcc3eee6
9:101552599 ANKS6 G>A	9	101552599	101552599	G	A	ANKS6	c.649C>T	NM_173551.5	NP_775822.3:p.(Pro217Ser)	NC_000009.11:g.101552599G>A	(Likely) benign	1 lab	aade3c4146
7:2977529 CARD11 T>G	7	2977529	2977529	T	G	CARD11	c.1143+12A>C	NM_032415.6	NP_115791.3:p.?	NC_000007.13:g.2977529T>G	(Likely) benign	1 lab	aae0e3abde
2:215609774 BARD1 T>C	2	215609774	215609774	T	C	BARD1	c.1903+17A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215609774T>C	(Likely) benign	1 lab	aae124181e
17:43367899 MAP3K14 G>A	17	43367899	43367899	G	A	MAP3K14	c.213C>T	NM_003954.5	NP_003945.2:p.(Ser71=)	NC_000017.10:g.43367899G>A	(Likely) benign	1 lab	aae275b1da
6:32944128 BRD2 C>T	6	32944128	32944128	C	T	BRD2	c.712C>T	NM_001199455.1	NP_001186384.1:p.(Leu238Phe)	NC_000006.11:g.32944128C>T	(Likely) benign	1 lab	aae44f080d
12:110565347 IFT81 CT>C	12	110565347	110565352	CT	C	IFT81	c.144+23del	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110565352del	(Likely) benign	1 lab	aae4abc200
6:51924858 PKHD1 G>C	6	51924858	51924858	G	C	PKHD1	c.1119-18C>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51924858G>C	(Likely) benign	1 lab	aae604f773
4:110882051 EGF T>C	4	110882051	110882051	T	C	EGF	c.1095T>C	NM_001963.6	NP_001954.2:p.(His365=)	NC_000004.11:g.110882051T>C	(Likely) benign	1 lab	aaea5fffa5
16:2152803 PKD1 C>T	16	2152803	2152803	C	T	PKD1	c.8948+12G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2152803C>T	(Likely) benign	1 lab	aaeab2bfe6
18:56587519 ZNF532 G>T	18	56587519	56587519	G	T	ZNF532	c.2000G>T	NM_018181.6	NP_060651.2:p.(Gly667Val)	NC_000018.9:g.56587519G>T	VUS	1 lab	d55fbfeb3c
16:11145496 CLEC16A C>T	16	11145496	11145496	C	T	CLEC16A	c.1993C>T	NM_015226.3	NP_056041.1:p.(Arg665Trp)	NC_000016.9:g.11145496C>T	VUS	1 lab	d560325baf
16:56904600 SLC12A3 C>T	16	56904600	56904600	C	T	SLC12A3	c.804C>T	NM_000339.3	NP_000330.3:p.(Val268=)	NC_000016.9:g.56904600C>T	(Likely) benign	1 lab	aaee0d9191
2:145146990 ZEB2 A>T	2	145146990	145146990	A	T	ZEB2	c.*28T>A	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145146990A>T	(Likely) benign	1 lab	aaf051d2f1
17:73726450 ITGB4 C>T	17	73726450	73726450	C	T	ITGB4	c.867C>T	NM_000213.5	NP_000204.3:p.(His289=)	NC_000017.10:g.73726450C>T	(Likely) benign	1 lab	aaf14f7e05
16:9858023 GRIN2A A>G	16	9858023	9858023	A	G	GRIN2A	c.3378T>C	NM_000833.5	NP_000824.1:p.(Pro1126=)	NC_000016.9:g.9858023A>G	(Likely) benign	1 lab	aaf209e1b4
2:166221581 SCN2A A>G	2	166221581	166221581	A	G	SCN2A	c.3400-72A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166221581A>G	(Likely) benign	1 lab	ab0f50866c
17:63532948 AXIN2 A>T	17	63532948	63532948	A	T	AXIN2	c.1907+39T>A	NM_004655.3	NP_004646.3:p.?	NC_000017.10:g.63532948A>T	(Likely) benign	1 lab	aaf44b251f
5:37181017 CPLANE1 T>C	5	37181017	37181017	T	C	CPLANE1	c.5512A>G	NM_023073.3	NP_075561.3:p.(Thr1838Ala)	NC_000005.9:g.37181017T>C	(Likely) benign	1 lab	aaf8a7dced
3:127788457 SEC61A1 C>T	3	127788457	127788457	C	T	SEC61A1	c.1383C>T	NM_013336.4	NP_037468.1:p.(Phe461=)	NC_000003.11:g.127788457C>T	(Likely) benign	1 lab	aaf9d4f579
16:89350802 ANKRD11 T>C	16	89350802	89350802	T	C	ANKRD11	c.2148A>G	NM_001256182.2	NP_001243111.1:p.(Lys716=)	NC_000016.9:g.89350802T>C	(Likely) benign	1 lab	aafb815515
9:131670202 LRRC8A T>C	9	131670202	131670202	T	C	LRRC8A	c.759T>C	NM_001127244.1	NP_001120716.1:p.(His253=)	NC_000009.11:g.131670202T>C	(Likely) benign	1 lab	aaff43cf71
2:71351487 MCEE G>A	2	71351487	71351487	G	A	MCEE	c.227C>T	NM_032601.4	NP_115990.3:p.(Ala76Val)	NC_000002.11:g.71351487G>A	(Likely) benign	1 lab	d5609c4d84
9:116856644 KIF12 A>G	9	116856644	116856644	A	G	KIF12	c.797T>C	NM_138424.1	NP_612433.1:p.(Met266Thr)	NC_000009.11:g.116856644A>G	(Likely) benign	1 lab	ab0418dd4f
19:36342414 NPHS1 G>A	19	36342414	36342414	G	A	NPHS1	c.219C>T	NM_004646.3	NP_004637.1:p.(Pro73=)	NC_000019.9:g.36342414G>A	(Likely) benign	1 lab	ab06f9807f
19:30205851 C19orf12 A>G	19	30205851	30205851	A	G	C19orf12	c.-15T>C	NM_001031726.3	NP_001026896.2:p.?	NC_000019.9:g.30205851A>G	(Likely) benign	1 lab	d564c5e7b1
14:65252848 SPTB C>T	14	65252848	65252848	C	T	SPTB	c.3562-179G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252848C>T	(Likely) benign	1 lab	ab0e055b8e
13:92346130 GPC5 GA>G	13	92346130	92346132	GA	G	GPC5	c.1017del	NM_004466.6	NP_004457.1:p.(Glu339AspfsTer3)	NC_000013.10:g.92346132del	VUS	1 lab	ab12e9dcff
2:166854703 SCN1A T>G	2	166854703	166854703	T	G	SCN1A	c.4339-18A>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166854703T>G	(Likely) benign	1 lab	ab14f227cc
6:32947516 BRD2 A>G	6	32947516	32947516	A	G	BRD2	c.1947-89A>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32947516A>G	(Likely) benign	1 lab	ab1bdeecac
1:209905772 HSD11B1 G>A	1	209905772	209905772	G	A	HSD11B1	c.518-9G>A	NM_005525.4	NP_005516.1:p.?	NC_000001.10:g.209905772G>A	(Likely) benign	1 lab	ab1fb4d945
2:166901496 SCN1A CCT>C	2	166901496	166901503	CCT	C	SCN1A	c.1662+55_1662+56del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166901502_166901503del	(Likely) benign	1 lab	ab205e9172
11:62462185 BSCL2 T>G	11	62462185	62462185	T	G	BSCL2	c.487-2A>C	NM_001122955.3	NP_001116427.1:p.?	NC_000011.9:g.62462185T>G	VUS	1 lab	ab25034e38
2:73677250 ALMS1 G>A	2	73677250	73677250	G	A	ALMS1	c.3599G>A	NM_015120.4	NP_055935.4:p.(Gly1200Asp)	NC_000002.11:g.73677250G>A	VUS	1 lab	ab28e85c91
11:36614528 RAG2 A>G	11	36614528	36614528	A	G	RAG2	c.1191T>C	NM_001243786.1	NP_001230715.1:p.(Asp397=)	NC_000011.9:g.36614528A>G	(Likely) benign	1 lab	ab2e1c746a
17:26879519 UNC119 C>T	17	26879519	26879519	C	T	UNC119	c.57G>A	NM_054035.2	NP_473376.1:p.(Gly19=)	NC_000017.10:g.26879519C>T	(Likely) benign	1 lab	ab37c6f2ab
3:30713564 TGFBR2 A>G	3	30713564	30713564	A	G	TGFBR2	c.964A>G	NM_001024847.2	NP_001020018.1:p.(Ile322Val)	NC_000003.11:g.30713564A>G	VUS	1 lab	ab385ec61f
3:47042761 NBEAL2 C>T	3	47042761	47042761	C	T	NBEAL2	c.4485-8C>T	NM_015175.2	NP_055990.1:p.?	NC_000003.11:g.47042761C>T	(Likely) benign	1 lab	ab390c1e69
14:58895024 KIAA0586 T>A	14	58895024	58895024	T	A	KIAA0586	c.78T>A	NM_001244189.2	NP_001231118.1:p.(Ile26=)	NC_000014.8:g.58895024T>A	(Likely) benign	1 lab	ab39a029c2
4:79437178 FRAS1 C>T	4	79437178	79437178	C	T	FRAS1	c.10389+11C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79437178C>T	(Likely) benign	1 lab	ab45ce3ce0
1:43898403 SZT2 T>G	1	43898403	43898403	T	G	SZT2	c.5364T>G	NM_015284.4	NP_056099.3:p.(Ser1788Arg)	NC_000001.10:g.43898403T>G	(Likely) benign	1 lab	ab460f14eb
22:17670932 ADA2 AG>A	22	17670932	17670933	AG	A	ADA2	c.882-11del	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17670933del	(Likely) benign	1 lab	ab48c1d25a
X:135289941 FHL1 C>A	X	135289941	135289941	C	A	FHL1	c.332-10C>A	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135289941C>A	(Likely) benign	1 lab	ab4bc7c77d
4:155488842 FGB T>A	4	155488842	155488842	T	A	FGB	c.588T>A	NM_005141.4	NP_005132.2:p.(Arg196=)	NC_000004.11:g.155488842T>A	(Likely) benign	1 lab	ab4dac7f9d
7:91641849 AKAP9 C>T	7	91641849	91641849	C	T	AKAP9	c.3425C>T	NM_005751.4	NP_005742.4:p.(Ala1142Val)	NC_000007.13:g.91641849C>T	VUS	1 lab	ab5014ada2
X:21534510 CNKSR2 CT>C	X	21534510	21534520	CT	C	CNKSR2	c.811-83del	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21534520del	(Likely) benign	1 lab	ab51957d54
12:6442929 TNFRSF1A CAGT>C	12	6442929	6442932	CAGT	C	TNFRSF1A	c.293_295del	NM_001065.4	NP_001056.1:p.(His98_Cys99delinsArg)	NC_000012.11:g.6442930_6442932del	(Likely) pathogenic	1 lab	ab524bca47
22:51064006 ARSA C>T	22	51064006	51064006	C	T	ARSA	c.1210+1G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51064006C>T	(Likely) pathogenic	1 lab	d5670f9747
3:148459839 AGTR1 C>T	3	148459839	148459839	C	T	AGTR1	c.1122C>T	NM_031850.3	NP_114038.4:p.(Tyr374=)	NC_000003.11:g.148459839C>T	(Likely) benign	1 lab	ab54562d67
16:53690251 RPGRIP1L T>C	16	53690251	53690251	T	C	RPGRIP1L	c.1699+133A>G	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53690251T>C	(Likely) benign	1 lab	ab558a7e5c
2:179633613 TTN CT>C	2	179633613	179633618	CT	C	TTN	c.8949del	NM_001267550.2	NP_001254479.2:p.(Asp2984ThrfsTer7)	NC_000002.11:g.179633618del	(Likely) pathogenic	1 lab	ab5974929a
17:45015958 GOSR2 G>C	17	45015958	45015958	G	C	GOSR2	c.478-7G>C	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45015958G>C	(Likely) benign	1 lab	ab60d828c0
6:87970965 ZNF292 TCA>T	6	87970965	87970969	TCA	T	ZNF292	c.7621_7622del	NM_015021.3	NP_055836.1:p.(Gln2541LysfsTer2)	NC_000006.11:g.87970968_87970969del	VUS	1 lab	d56e854f85
16:3304746 MEFV T>G	16	3304746	3304746	T	G	MEFV	c.322A>C	NM_000243.2	NP_000234.1:p.(Ser108Arg)	NC_000016.9:g.3304746T>G	VUS	1 lab	ab68c83897
7:44558268 NPC1L1 C>CAA	7	44558268	44558283	C	CAA	NPC1L1	c.3137-5_3137-4dup	NM_013389.3	NP_037521.2:p.?	NC_000007.13:g.44558282_44558283dup	(Likely) benign	1 lab	ab6a9406aa
19:39416935 SARS2 C>T	19	39416935	39416935	C	T	SARS2	c.273G>A	NM_017827.4	NP_060297.1:p.(Ser91=)	NC_000019.9:g.39416935C>T	(Likely) benign	1 lab	ab6cb3a039
1:235827740 LYST A>G	1	235827740	235827740	A	G	LYST	c.11195+25T>C	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235827740A>G	(Likely) benign	1 lab	ab71633601
11:64574135 MEN1 A>G	11	64574135	64574135	A	G	MEN1	c.913-295T>C	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64574135A>G	(Likely) benign	1 lab	ab7365bf2e
14:65241228 SPTB A>G	14	65241228	65241228	A	G	SPTB	c.4860T>C	NM_001024858.3	NP_001020029.1:p.(Ile1620=)	NC_000014.8:g.65241228A>G	(Likely) benign	1 lab	ab80a451f9
1:114450804 DCLRE1B A>G	1	114450804	114450804	A	G	DCLRE1B	c.529A>G	NM_022836.4	NP_073747.1:p.(Ile177Val)	NC_000001.10:g.114450804A>G	(Likely) benign	1 lab	ab83b70289
7:128492979 FLNC G>T	7	128492979	128492979	G	T	FLNC	c.6102G>T	NM_001458.4	NP_001449.3:p.(Gly2034=)	NC_000007.13:g.128492979G>T	VUS	1 lab	ab8815dd66
5:125882073 ALDH7A1 C>G	5	125882073	125882073	C	G	ALDH7A1	c.1508G>C	NM_001182.5	NP_001173.2:p.(Gly503Ala)	NC_000005.9:g.125882073C>G	(Likely) pathogenic	1 lab	ab92fded92
16:1262151 CACNA1H C>T	16	1262151	1262151	C	T	CACNA1H	c.4759+13C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1262151C>T	(Likely) benign	1 lab	ab9350fb22
16:5121872 ALG1 C>T	16	5121872	5121872	C	T	ALG1	c.22C>T	NM_019109.4	NP_061982.3:p.(Leu8=)	NC_000016.9:g.5121872C>T	(Likely) benign	1 lab	ab9b854fd7
X:107819173 COL4A5 A>G	X	107819173	107819173	A	G	COL4A5	c.580A>G	NM_000495.5	NP_000486.1:p.(Ile194Val)	NC_000023.10:g.107819173A>G	(Likely) benign	1 lab	ab9eda8dc1
19:38993383 RYR1 C>T	19	38993383	38993383	C	T	RYR1	c.7835+16C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38993383C>T	(Likely) benign	1 lab	aba00f1f23
X:153580080 FLNA G>A	X	153580080	153580080	G	A	FLNA	c.6908-16C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153580080G>A	(Likely) benign	1 lab	aba48f6890
19:18171937 IL12RB1 T>C	19	18171937	18171937	T	C	IL12RB1	c.1786A>G	NM_005535.1	NP_005526.1:p.(Lys596Glu)	NC_000019.9:g.18171937T>C	(Likely) benign	1 lab	aba53ec87f
11:67816477 TCIRG1 G>A	11	67816477	67816477	G	A	TCIRG1				NC_000011.9:g.67816477G>A	(Likely) benign	1 lab	aba9da6e55
2:166245205 SCN2A T>C	2	166245205	166245205	T	C	SCN2A	c.4889T>C	NM_021007.3	NP_066287.2:p.(Leu1630Pro)	NC_000002.11:g.166245205T>C	VUS	1 lab	d570f8128a
16:49672834 ZNF423 G>A	16	49672834	49672834	G	A	ZNF423	c.98-49C>T	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49672834G>A	(Likely) benign	1 lab	abaf879db6
2:171702585 GAD1 G>A	2	171702585	171702585	G	A	GAD1	c.1002+12G>A	NM_000817.2	NP_000808.2:p.?	NC_000002.11:g.171702585G>A	(Likely) benign	1 lab	abb1428ee6
16:1500485 CLCN7 C>T	16	1500485	1500485	C	T	CLCN7	c.1617+13G>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1500485C>T	(Likely) benign	1 lab	abb5140a80
16:58043894 USB1 T>C	16	58043894	58043894	T	C	USB1	c.327T>C	NM_001204911.2	NP_001191840.1:p.(Tyr109=)	NC_000016.9:g.58043894T>C	(Likely) benign	1 lab	abb901dc84
1:151315529 RFX5 C>T	1	151315529	151315529	C	T	RFX5	c.984G>A	NM_000449.3	NP_000440.1:p.(Arg328=)	NC_000001.10:g.151315529C>T	(Likely) benign	1 lab	abc1130310
3:10188223 VHL A>G	3	10188223	10188223	A	G	VHL	c.366A>G	NM_000551.3	NP_000542.1:p.(Ala122=)	NC_000003.11:g.10188223A>G	VUS	1 lab	abc27df22f
7:148112639 CNTNAP2 C>T	7	148112639	148112639	C	T	CNTNAP2	c.3927C>T	NM_014141.6	NP_054860.1:p.(Ala1309=)	NC_000007.13:g.148112639C>T	(Likely) benign	1 lab	abc2ce3151
4:103644046 MANBA A>G	4	103644046	103644046	A	G	MANBA	c.531T>C	NM_005908.4	NP_005899.3:p.(His177=)	NC_000004.11:g.103644046A>G	(Likely) benign	1 lab	abc6be1833
18:60052192 TNFRSF11A C>T	18	60052192	60052192	C	T	TNFRSF11A	c.1734C>T	NM_001278268.2	NP_001265197.1:p.(Cys578=)	NC_000018.9:g.60052192C>T	(Likely) benign	1 lab	abca11a225
10:16942755 CUBN A>G	10	16942755	16942755	A	G	CUBN	c.8279T>C	NM_001081.3	NP_001072.2:p.(Ile2760Thr)	NC_000010.10:g.16942755A>G	(Likely) benign	1 lab	abcd7fa9dd
9:130425612 STXBP1 C>A	9	130425612	130425612	C	A	STXBP1	c.558C>A	NM_003165.6	NP_003156.1:p.(Tyr186Ter)	NC_000009.11:g.130425612C>A	(Likely) pathogenic	1 lab	abce3e8d42
1:241675250 FH A>G	1	241675250	241675250	A	G	FH	c.555+17T>C	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241675250A>G	(Likely) benign	1 lab	abce6407fe
1:172628432 FASLG C>T	1	172628432	172628432	C	T	FASLG	c.91C>T	NM_000639.1	NP_000630.1:p.(Pro31Ser)	NC_000001.10:g.172628432C>T	(Likely) benign	1 lab	abcf0f4231
4:154191710 TRIM2 G>A	4	154191710	154191710	G	A	TRIM2	c.134+39G>A	NM_001130067.2	NP_001123539.1:p.?	NC_000004.11:g.154191710G>A	(Likely) benign	1 lab	abd17fa2f1
21:47552292 COL6A2 C>T	21	47552292	47552292	C	T	COL6A2	c.2886C>T	NM_001849.3	NP_001840.3:p.(His962=)	NC_000021.8:g.47552292C>T	(Likely) benign	1 lab	abd6b26ffa
9:138657552 KCNT1 G>A	9	138657552	138657552	G	A	KCNT1	c.1283G>A	NM_020822.3	NP_065873.2:p.(Arg428Gln)	NC_000009.11:g.138657552G>A	(Likely) pathogenic	1 lab	d5745585ed
16:1245916 CACNA1H C>T	16	1245916	1245916	C	T	CACNA1H	c.546-10C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1245916C>T	(Likely) benign	1 lab	abdfd8bd05
16:1260360 CACNA1H G>C	16	1260360	1260360	G	C	CACNA1H	c.3846-10G>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260360G>C	(Likely) benign	1 lab	abe7d9b12b
9:131394702 SPTAN1 T>C	9	131394702	131394702	T	C	SPTAN1	c.6960-8T>C	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131394702T>C	(Likely) benign	1 lab	abe867922f
1:158656432 SPTA1 GA>G	1	158656432	158656443	GA	G	SPTA1	c.-126del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158656443del	(Likely) benign	1 lab	abea5131cf
9:131763869 NUP188 C>T	9	131763869	131763869	C	T	NUP188	c.3905C>T	NM_015354.3	NP_056169.1:p.(Ser1302Phe)	NC_000009.11:g.131763869C>T	VUS	1 lab	d575993b51
17:42452054 ITGA2B C>CG	17	42452054	42452059	C	CG	ITGA2B	c.2915dup	NM_000419.3	NP_000410.2:p.(Leu973AlafsTer63)	NC_000017.10:g.42452059dup	(Likely) pathogenic	1 lab	abee655bc8
21:34651905 IL10RB C>T	21	34651905	34651905	C	T	IL10RB				NC_000021.8:g.34651905C>T	(Likely) benign	1 lab	abf00cdc9c
19:41072226 SPTBN4 C>T	19	41072226	41072226	C	T	SPTBN4	c.6297C>T	NM_020971.3	NP_066022.2:p.(Ala2099=)	NC_000019.9:g.41072226C>T	(Likely) benign	1 lab	abf2278553
1:2160343 SKI C>T	1	2160343	2160343	C	T	SKI	c.138C>T	NM_003036.4	NP_003027.1:p.(Ala46=)	NC_000001.10:g.2160343C>T	(Likely) benign	1 lab	abf33319cd
9:130616563 ENG C>T	9	130616563	130616563	C	T	ENG	c.67+5G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130616563C>T	(Likely) pathogenic	1 lab	ac010749ca
11:73834147 C2CD3 C>A	11	73834147	73834147	C	A	C2CD3	c.1251G>T	NM_001286577.1	NP_001273506.1:p.(Gly417=)	NC_000011.9:g.73834147C>A	(Likely) benign	1 lab	ac05143f05
2:228134676 COL4A3 A>G	2	228134676	228134676	A	G	COL4A3	c.1555A>G	NM_000091.4	NP_000082.2:p.(Thr519Ala)	NC_000002.11:g.228134676A>G	(Likely) benign	1 lab	ac065a7bfd
9:94809995 SPTLC1 C>T	9	94809995	94809995	C	T	SPTLC1	c.889-5G>A	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94809995C>T	VUS	1 lab	ac0a75d485
19:17945366 JAK3 G>C	19	17945366	17945366	G	C	JAK3	c.2350+14C>G	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17945366G>C	(Likely) benign	1 lab	ac0f459e65
16:2169293 PKD1 C>T	16	2169293	2169293	C	T	PKD1	c.287+15G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2169293C>T	(Likely) benign	1 lab	ac1037a9cb
19:10472989 TYK2 G>A	19	10472989	10472989	G	A	TYK2	c.1620C>T	NM_003331.4	NP_003322.3:p.(Ala540=)	NC_000019.9:g.10472989G>A	(Likely) benign	1 lab	ac10ebdb17
12:7842587 GDF3 C>G	12	7842587	7842587	C	G	GDF3	c.982G>C	NM_020634.3	NP_065685.1:p.(Val328Leu)	NC_000012.11:g.7842587C>G	(Likely) benign	1 lab	ac160edab7
1:185269495 IVNS1ABP T>G	1	185269495	185269495	T	G	IVNS1ABP	c.1243-20A>C	NM_006469.5	NP_006460.2:p.?	NC_000001.10:g.185269495T>G	(Likely) benign	1 lab	ac167e5332
15:42114452 MAPKBP1 G>C	15	42114452	42114452	G	C	MAPKBP1	c.3079G>C	NM_001128608.2	NP_001122080.1:p.(Asp1027His)	NC_000015.9:g.42114452G>C	VUS	1 lab	ac1a5a0933
5:127640644 FBN2 C>T	5	127640644	127640644	C	T	FBN2	c.5800+5G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640644C>T	VUS	1 lab	d576e8388b
15:57526294 TCF12 G>C	15	57526294	57526294	G	C	TCF12	c.1024G>C	NM_207037.2	NP_996920.1:p.(Ala342Pro)	NC_000015.9:g.57526294G>C	(Likely) pathogenic	1 lab	d5784549b9
2:73675553 ALMS1 A>G	2	73675553	73675553	A	G	ALMS1	c.1902A>G	NM_015120.4	NP_055935.4:p.(Gln634=)	NC_000002.11:g.73675553A>G	(Likely) benign	1 lab	ac2ea50d78
15:41337225 INO80 C>T	15	41337225	41337225	C	T	INO80	c.2784G>A	NM_017553.3	NP_060023.1:p.(Gln928=)	NC_000015.9:g.41337225C>T	(Likely) benign	1 lab	ac2f1c4e0f
17:17698263 RAI1 G>A	17	17698263	17698263	G	A	RAI1	c.2001G>A	NM_030665.4	NP_109590.3:p.(Leu667=)	NC_000017.10:g.17698263G>A	(Likely) benign	1 lab	ac35daba29
13:39420923 FREM2 T>G	13	39420923	39420923	T	G	FREM2	c.6169+64T>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39420923T>G	(Likely) benign	1 lab	ac38baa02e
2:216300470 FN1 G>A	2	216300470	216300470	G	A	FN1	c.56C>T	NM_212482.2	NP_997647.1:p.(Thr19Ile)	NC_000002.11:g.216300470G>A	(Likely) benign	1 lab	ac3c5c4e36
13:52509751 ATP7B G>GGACT	13	52509751	52509752	G	GGACT	ATP7B	c.4101_4102insAGTC	NM_000053.4	NP_000044.2:p.(Leu1368SerfsTer11)	NC_000013.10:g.52509751_52509752insGACT	VUS	1 lab	ac3e542653
6:133783798 EYA4 G>C	6	133783798	133783798	G	C	EYA4	c.620G>C	NM_004100.5	NP_004091.3:p.(Gly207Ala)	NC_000006.11:g.133783798G>C	VUS	1 lab	ac41b1ab3f
16:81953069 PLCG2 C>A	16	81953069	81953069	C	A	PLCG2	c.2055-20C>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81953069C>A	(Likely) benign	1 lab	ac423331d7
2:189861916 COL3A1 G>C	2	189861916	189861916	G	C	COL3A1	c.1787G>C	NM_000090.3	NP_000081.1:p.(Arg596Pro)	NC_000002.11:g.189861916G>C	VUS	1 lab	ac44765836
16:67690357 CARMIL2 A>G	16	67690357	67690357	A	G	CARMIL2	c.3845A>G	NM_001013838.3	NP_001013860.1:p.(Gln1282Arg)	NC_000016.9:g.67690357A>G	(Likely) benign	1 lab	ac46a1125f
17:10438587 MYH2 T>C	17	10438587	10438587	T	C	MYH2	c.2062+8A>G	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10438587T>C	(Likely) benign	1 lab	ac49eac106
20:60891827 LAMA5 C>G	20	60891827	60891827	C	G	LAMA5	c.7656G>C	NM_005560.4	NP_005551.3:p.(Thr2552=)	NC_000020.10:g.60891827C>G	(Likely) benign	1 lab	ac4c3e8d22
X:100608909 BTK C>G	X	100608909	100608909	C	G	BTK	c.1699G>C	NM_000061.2	NP_000052.1:p.(Glu567Gln)	NC_000023.10:g.100608909C>G	VUS	1 lab	ac4d25af0e
4:3487334 DOK7 C>T	4	3487334	3487334	C	T	DOK7	c.601C>T	NM_173660.5	NP_775931.3:p.(Arg201Ter)	NC_000004.11:g.3487334C>T	(Likely) pathogenic	1 lab	ac5165d49d
X:47061749 UBA1 C>T	X	47061749	47061749	C	T	UBA1	c.910-8C>T	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47061749C>T	(Likely) benign	1 lab	ac549a4b91
17:8138156 CTC1 T>C	17	8138156	8138156	T	C	CTC1	c.1528A>G	NM_025099.6	NP_079375.3:p.(Thr510Ala)	NC_000017.10:g.8138156T>C	(Likely) benign	1 lab	ac55ee4201
X:53222448 KDM5C TCCG>T	X	53222448	53222462	TCCG	T	KDM5C	c.4381_4383del	NM_004187.5	NP_004178.2:p.(Arg1461del)	NC_000023.10:g.53222460_53222462del	VUS	1 lab	d584c6bc9a
X:153580238 FLNA C>A	X	153580238	153580238	C	A	FLNA	c.6907+14G>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153580238C>A	(Likely) benign	1 lab	ac5be4fb6a
15:43498876 EPB42 T>C	15	43498876	43498876	T	C	EPB42	c.1409-49A>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43498876T>C	(Likely) benign	1 lab	ac60e1a921
7:91713017 AKAP9 A>T	7	91713017	91713017	A	T	AKAP9	c.8646+48A>T	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91713017A>T	(Likely) benign	1 lab	ac624f852b
3:25653999 TOP2B G>C	3	25653999	25653999	G	C	TOP2B	c.3771+7C>G	NM_001068.3	NP_001059.2:p.?	NC_000003.11:g.25653999G>C	(Likely) benign	1 lab	ac64d95fcb
6:20402732 E2F3 G>C	6	20402732	20402732	G	C	E2F3	c.269G>C	NM_001949.5	NP_001940.1:p.(Gly90Ala)	NC_000006.11:g.20402732G>C	(Likely) benign	1 lab	ac6854b20b
12:6442970 TNFRSF1A C>G	12	6442970	6442970	C	G	TNFRSF1A	c.255G>C	NM_001065.3	NP_001056.1:p.(Glu85Asp)	NC_000012.11:g.6442970C>G	(Likely) pathogenic	1 lab	ac686f6e24
2:98349748 ZAP70 C>T	2	98349748	98349748	C	T	ZAP70	c.791-12C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98349748C>T	(Likely) benign	1 lab	ac6eec542d
11:6643083 DCHS1 T>C	11	6643083	6643083	T	C	DCHS1	c.9824A>G	NM_003737.4	NP_003728.1:p.(Gln3275Arg)	NC_000011.9:g.6643083T>C	VUS	1 lab	d58658c69a
16:14014105 ERCC4 A>G	16	14014105	14014105	A	G	ERCC4	c.83A>G	NM_005236.2	NP_005227.1:p.(Asp28Gly)	NC_000016.9:g.14014105A>G	(Likely) benign	1 lab	ac701472e2
15:29561146 NSMCE3 T>A	15	29561146	29561146	T	A	NSMCE3	c.764A>T	NM_138704.4	NP_619649.1:p.(Asn255Ile)	NC_000015.9:g.29561146T>A	(Likely) benign	1 lab	ac7061fd9c
17:59857809 BRIP1 C>G	17	59857809	59857809	C	G	BRIP1	c.1795-47G>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59857809C>G	(Likely) benign	1 lab	ac741487de
X:53674424 HUWE1 C>T	X	53674424	53674424	C	T	HUWE1	c.238G>A	NM_031407.7	NP_113584.3:p.(Val80Ile)	NC_000023.10:g.53674424C>T	(Likely) benign	1 lab	ac74f81861
16:1258980 CACNA1H G>A	16	1258980	1258980	G	A	CACNA1H	c.3364-52G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1258980G>A	(Likely) benign	1 lab	ac756ce9a2
8:48840460 PRKDC AAAG>A	8	48840460	48840467	AAAG	A	PRKDC	c.2140-13_2140-11del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48840465_48840467del	(Likely) benign	1 lab	ac79b274b4
11:6630364 ILK C>T	11	6630364	6630364	C	T	ILK	c.595C>T	NM_001014795.3	NP_001014795.1:p.(Leu199Phe)	NC_000011.9:g.6630364C>T	VUS	1 lab	ac79e81cc6
8:68423959 CPA6 A>G	8	68423959	68423959	A	G	CPA6	c.318-69T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68423959A>G	(Likely) benign	1 lab	ac7ac60e66
3:189561962 TP63 CT>C	3	189561962	189561974	CT	C	TP63	c.580-20047del	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189561974del	(Likely) benign	1 lab	ac7bd6b5f8
8:17942427 ASAH1 A>T	8	17942427	17942427	A	T	ASAH1	c.-117T>A	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17942427A>T	(Likely) benign	1 lab	ac7c68b921
17:54923180 DGKE GA>G	17	54923180	54923187	GA	G	DGKE	c.744+17del	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54923187del	(Likely) benign	1 lab	ac7f07f906
5:176935547 DOK3 C>T	5	176935547	176935547	C	T	DOK3	c.67-4G>A	NM_001144875.2	NP_001138347.1:p.?	NC_000005.9:g.176935547C>T	(Likely) benign	1 lab	ac81275d43
19:18177491 IL12RB1 T>G	19	18177491	18177491	T	G	IL12RB1	c.1464A>C	NM_001290024.1	NP_001276953.1:p.(Thr488=)	NC_000019.9:g.18177491T>G	(Likely) benign	1 lab	ac851ad624
17:62049998 SCN4A G>A	17	62049998	62049998	G	A	SCN4A	c.204C>T	NM_000334.4	NP_000325.4:p.(Tyr68=)	NC_000017.10:g.62049998G>A	(Likely) benign	1 lab	ac8729cf89
8:145541643 DGAT1 G>A	8	145541643	145541643	G	A	DGAT1	c.789C>T	NM_012079.6	NP_036211.2:p.(Tyr263=)	NC_000008.10:g.145541643G>A	(Likely) benign	1 lab	ac899313ab
21:38850470 DYRK1A C>G	21	38850470	38850470	C	G	DYRK1A	c.208-13C>G	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38850470C>G	(Likely) benign	1 lab	ac8ce7a0ab
16:3304736 MEFV C>T	16	3304736	3304736	C	T	MEFV	c.332G>A	NM_000243.2	NP_000234.1:p.(Gly111Glu)	NC_000016.9:g.3304736C>T	VUS	1 lab	ac8cf0dffe
16:1263766 CACNA1H C>T	16	1263766	1263766	C	T	CACNA1H	c.4778-14C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1263766C>T	(Likely) benign	1 lab	ac94d58df3
3:186954264 MASP1 G>A	3	186954264	186954264	G	A	MASP1	c.1395C>T	NM_139125.3	NP_624302.1:p.(Ala465=)	NC_000003.11:g.186954264G>A	(Likely) benign	1 lab	ac97e176fc
7:158719139 DYNC2I1 G>T	7	158719139	158719139	G	T	DYNC2I1	c.2418G>T	NM_018051.5	NP_060521.4:p.(Gly806=)	NC_000007.13:g.158719139G>T	(Likely) benign	1 lab	ac98be0b97
1:27428197 SLC9A1 A>C	1	27428197	27428197	A	C	SLC9A1	c.2037+19T>G	NM_003047.5	NP_003038.2:p.?	NC_000001.10:g.27428197A>C	(Likely) benign	1 lab	ac99c6d265
6:7580138 DSP C>T	6	7580138	7580138	C	T	DSP	c.3715C>T	NM_004415.2	NP_004406.2:p.(Leu1239Phe)	NC_000006.11:g.7580138C>T	(Likely) benign	1 lab	ac9dd1ea91
1:227172237 COQ8A C>T	1	227172237	227172237	C	T	COQ8A	c.1399-12C>T	NM_020247.5	NP_064632.2:p.?	NC_000001.10:g.227172237C>T	(Likely) benign	1 lab	aca27b0efa
17:7123838 ACADVL C>T	17	7123838	7123838	C	T	ACADVL	c.194C>T	NM_000018.4	NP_000009.1:p.(Pro65Leu)	NC_000017.10:g.7123838C>T	(Likely) benign	1 lab	aca5ad80d6
11:65487903 RNASEH2C G>A	11	65487903	65487903	G	A	RNASEH2C	c.173-15C>T	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487903G>A	(Likely) benign	1 lab	acacac3b1a
7:131194166 PODXL G>A	7	131194166	131194166	G	A	PODXL	c.885C>T	NM_005397.4	NP_005388.2:p.(Tyr295=)	NC_000007.13:g.131194166G>A	(Likely) benign	1 lab	acaf836ad4
4:151829593 LRBA G>A	4	151829593	151829593	G	A	LRBA	c.1386C>T	NM_006726.4	NP_006717.2:p.(Ser462=)	NC_000004.11:g.151829593G>A	(Likely) benign	1 lab	acb25d3949
19:55452194 NLRP7 CAA>C	19	55452194	55452208	CAA	C	NLRP7	c.352+103_352+104del	NM_001127255.2	NP_001120727.1:p.?	NC_000019.9:g.55452207_55452208del	(Likely) benign	1 lab	acb8360bf7
12:7045469 ATN1 G>A	12	7045469	7045469	G	A	ATN1	c.1039G>A	NM_001940.4	NP_001931.2:p.(Glu347Lys)	NC_000012.11:g.7045469G>A	(Likely) benign	1 lab	acb9a37568
19:13338228 CACNA1A C>T	19	13338228	13338228	C	T	CACNA1A	c.5643+17G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13338228C>T	(Likely) benign	1 lab	acb9aa01fe
8:61763034 CHD7 C>T	8	61763034	61763034	C	T	CHD7				NC_000008.10:g.61763034C>T	(Likely) benign	1 lab	acefbd5699
4:186423599 PDLIM3 G>C	4	186423599	186423599	G	C	PDLIM3	c.944C>G	NM_014476.6	NP_055291.2:p.(Pro315Arg)	NC_000004.11:g.186423599G>C	VUS	1 lab	acc4151269
16:2161568 PKD1 C>T	16	2161568	2161568	C	T	PKD1	c.3600G>A	NM_001009944.2	NP_001009944.2:p.(Ala1200=)	NC_000016.9:g.2161568C>T	(Likely) benign	1 lab	acc49d6019
2:87016476 CD8A A>G	2	87016476	87016476	A	G	CD8A	c.595T>C	NM_001145873.1	NP_001139345.1:p.(Ser199Pro)	NC_000002.11:g.87016476A>G	VUS	1 lab	d589078177
5:122714044 CEP120 T>C	5	122714044	122714044	T	C	CEP120	c.2182A>G	NM_153223.3	NP_694955.2:p.(Ser728Gly)	NC_000005.9:g.122714044T>C	(Likely) benign	1 lab	accd96b4b3
5:90111431 ADGRV1 T>C	5	90111431	90111431	T	C	ADGRV1	c.16079-5T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111431T>C	(Likely) benign	1 lab	acd2164391
22:37328966 CSF2RB G>C	22	37328966	37328966	G	C	CSF2RB	c.1152+20G>C	NM_000395.3	NP_000386.1:p.?	NC_000022.10:g.37328966G>C	(Likely) benign	1 lab	d589ae066c
3:47041428 NBEAL2 G>T	3	47041428	47041428	G	T	NBEAL2	c.3839G>T	NM_015175.2	NP_055990.1:p.(Arg1280Leu)	NC_000003.11:g.47041428G>T	(Likely) benign	1 lab	acdc059153
12:15732955 PTPRO T>C	12	15732955	15732955	T	C	PTPRO	c.2921-18T>C	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15732955T>C	(Likely) benign	1 lab	ace278ce0c
7:138447723 ATP6V0A4 GT>G	7	138447723	138447725	GT	G	ATP6V0A4	c.338del	NM_020632.3	NP_065683.2:p.(Asn113ThrfsTer5)	NC_000007.13:g.138447725del	(Likely) pathogenic	1 lab	ace380a243
4:110909735 EGF C>A	4	110909735	110909735	C	A	EGF	c.2609-5C>A	NM_001963.6	NP_001954.2:p.?	NC_000004.11:g.110909735C>A	(Likely) benign	1 lab	ace45244ae
13:23939434 SACS CA>C	13	23939434	23939440	CA	C	SACS	c.346-19del	NM_014363.6	NP_055178.3:p.?	NC_000013.10:g.23939440del	(Likely) benign	1 lab	ace453ca14
9:396780 DOCK8 C>T	9	396780	396780	C	T	DOCK8	c.2971-5C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.396780C>T	(Likely) benign	1 lab	ace8440fb2
19:55658387 TNNT1 T>C	19	55658387	55658387	T	C	TNNT1	c.35A>G	NM_003283.6	NP_003274.3:p.(Glu12Gly)	NC_000019.9:g.55658387T>C	(Likely) benign	1 lab	acf9022327
14:23868152 MYH6 C>T	14	23868152	23868152	C	T	MYH6	c.1676G>A	NM_002471.3	NP_002462.2:p.(Gly559Asp)	NC_000014.8:g.23868152C>T	VUS	1 lab	acf9c00cea
5:150723762 SLC36A2 G>A	5	150723762	150723762	G	A	SLC36A2	c.231C>T	NM_181776.3	NP_861441.2:p.(Leu77=)	NC_000005.9:g.150723762G>A	(Likely) benign	1 lab	acfae6f71a
19:55445944 NLRP7 C>T	19	55445944	55445944	C	T	NLRP7	c.2384G>A	NM_001127255.1	NP_001120727.1:p.(Arg795His)	NC_000019.9:g.55445944C>T	(Likely) benign	1 lab	acfae7743b
12:117013882 MAP1LC3B2 T>A	12	117013882	117013882	T	A	MAP1LC3B2	c.135T>A	NM_001085481.3	NP_001078950.1:p.(Pro45=)	NC_000012.11:g.117013882T>A	(Likely) benign	1 lab	acfc8e3de8
22:32233028 DEPDC5 C>G	22	32233028	32233028	C	G	DEPDC5	c.2241C>G	NM_001242896.3	NP_001229825.1:p.(Leu747=)	NC_000022.10:g.32233028C>G	(Likely) benign	1 lab	ad03759a17
16:3296983 MEFV G>C	16	3296983	3296983	G	C	MEFV	c.1587+33C>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296983G>C	(Likely) benign	1 lab	ad0547c98c
7:47983009 PKD1L1 T>G	7	47983009	47983009	T	G	PKD1L1	c.144A>C	NM_138295.5	NP_612152.1:p.(Gly48=)	NC_000007.13:g.47983009T>G	(Likely) benign	1 lab	ad09514422
12:15733912 PTPRO A>C	12	15733912	15733912	A	C	PTPRO	c.3132+147A>C	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15733912A>C	(Likely) benign	1 lab	ad0c36ae33
2:197761876 PGAP1 A>G	2	197761876	197761876	A	G	PGAP1	c.384T>C	NM_001321099.2	NP_001308028.1:p.(Leu128=)	NC_000002.11:g.197761876A>G	(Likely) benign	1 lab	ad15ad1bec
8:133150103 KCNQ3 C>T	8	133150103	133150103	C	T	KCNQ3	c.1700+29G>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133150103C>T	(Likely) benign	1 lab	ad167e8ef6
12:6443011 TNFRSF1A AGTC>A	12	6443011	6443014	AGTC	A	TNFRSF1A	c.211_213del	NM_001065.4	NP_001056.1:p.(Asp71del)	NC_000012.11:g.6443012_6443014del	(Likely) pathogenic	1 lab	ad18376fc4
5:89933904 ADGRV1 C>G	5	89933904	89933904	C	G	ADGRV1	c.2240+139C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89933904C>G	(Likely) benign	1 lab	ad1992e36a
16:86601295 FOXC2 C>T	16	86601295	86601295	C	T	FOXC2	c.354C>T	NM_005251.3	NP_005242.1:p.(Asn118=)	NC_000016.9:g.86601295C>T	(Likely) benign	1 lab	ad1c8ec32e
19:55665540 TNNI3 C>G	19	55665540	55665540	C	G	TNNI3	c.407G>C	NM_000363.4	NP_000354.4:p.(Arg136Pro)	NC_000019.9:g.55665540C>G	(Likely) pathogenic	1 lab	ad21d86010
9:102591042 NR4A3 A>G	9	102591042	102591042	A	G	NR4A3	c.751A>G	NM_173200.3	NP_775292.1:p.(Ser251Gly)	NC_000009.11:g.102591042A>G	(Likely) benign	1 lab	d58d691a2d
15:42117627 MAPKBP1 A>G	15	42117627	42117627	A	G	MAPKBP1	c.4538A>G	NM_001128608.2	NP_001122080.1:p.(Lys1513Arg)	NC_000015.9:g.42117627A>G	(Likely) benign	1 lab	ad252bff8e
12:53823175 AMHR2 C>CA	12	53823175	53823188	C	CA	AMHR2	c.968-49dup	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53823188dup	(Likely) benign	1 lab	ad277f9851
X:48542689 WAS T>A	X	48542689	48542689	T	A	WAS	c.150T>A	NM_000377.2	NP_000368.1:p.(Val50=)	NC_000023.10:g.48542689T>A	(Likely) benign	1 lab	ad28268a4e
9:14859356 FREM1 T>C	9	14859356	14859356	T	C	FREM1	c.456A>G	NM_144966.5	NP_659403.4:p.(Gln152=)	NC_000009.11:g.14859356T>C	(Likely) benign	1 lab	ad28eeb879
19:36593976 WDR62 C>T	19	36593976	36593976	C	T	WDR62	c.3462C>T	NM_001083961.2	NP_001077430.1:p.(His1154=)	NC_000019.9:g.36593976C>T	(Likely) benign	1 lab	d58e4486ca
15:57918069 MYZAP A>G	15	57918069	57918069	A	G	MYZAP	c.504A>G	NM_001018100.5	NP_001018110.1:p.(Ala168=)	NC_000015.9:g.57918069A>G	(Likely) benign	1 lab	ad3128fbe3
2:179486350 TTN A>AT	2	179486350	179486351	A	AT	TTN	c.45200dup	NM_001267550.1	NP_001254479.1:p.(Asp15067GlufsTer2)	NC_000002.11:g.179486351dup	(Likely) pathogenic	1 lab	ad33d71b86
X:53349817 IQSEC2 C>G	X	53349817	53349817	C	G	IQSEC2	c.505G>C	NM_001111125.3	NP_001104595.1:p.(Glu169Gln)	NC_000023.10:g.53349817C>G	(Likely) benign	1 lab	ad374b28d9
17:73725318 ITGB4 ACTCT>A	17	73725318	73725327	ACTCT	A	ITGB4	c.567-22_567-19del	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73725324_73725327del	(Likely) benign	1 lab	d59559152a
16:50744638 NOD2 C>T	16	50744638	50744638	C	T	NOD2	c.816C>T	NM_022162.1	NP_071445.1:p.(Ser272=)	NC_000016.9:g.50744638C>T	(Likely) benign	1 lab	ad3aa3af8b
1:158641848 SPTA1 C>CCT	1	158641848	158641852	C	CCT	SPTA1	c.1488_1488+1insAG	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158641851_158641852dup	(Likely) pathogenic	1 lab	ad3b889c9b
18:2940580 LPIN2 CAAG>C	18	2940580	2940585	CAAG	C	LPIN2	c.698+20_698+22del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2940583_2940585del	(Likely) benign	1 lab	ad3c9684e5
22:18912678 PRODH A>G	22	18912678	18912678	A	G	PRODH	c.553T>C	NM_016335.6	NP_057419.5:p.(Trp185Arg)	NC_000022.10:g.18912678A>G	(Likely) benign	1 lab	d595f53e12
2:166165187 SCN2A C>G	2	166165187	166165187	C	G	SCN2A	c.488C>G	NM_021007.3	NP_066287.2:p.(Thr163Arg)	NC_000002.11:g.166165187C>G	VUS	1 lab	ad436a1bd4
6:31929828 SKIC2 C>T	6	31929828	31929828	C	T	SKIC2	c.1061C>T	NM_006929.5	NP_008860.4:p.(Thr354Ile)	NC_000006.11:g.31929828C>T	(Likely) pathogenic	1 lab	ad456af7ba
10:100202987 HPS1 A>G	10	100202987	100202987	A	G	HPS1	c.11T>C	NM_000195.5	NP_000186.2:p.(Val4Ala)	NC_000010.10:g.100202987A>G	(Likely) benign	1 lab	ad4ae139d9
7:94044592 COL1A2 A>G	7	94044592	94044592	A	G	COL1A2	c.1764+10A>G	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94044592A>G	(Likely) benign	1 lab	ad4d17adc4
10:13225050 MCM10 G>A	10	13225050	13225050	G	A	MCM10	c.1051G>A	NM_182751.3	NP_877428.1:p.(Val351Ile)	NC_000010.10:g.13225050G>A	(Likely) benign	1 lab	ad5074a4cb
15:51856454 DMXL2 T>C	15	51856454	51856454	T	C	DMXL2				NC_000015.9:g.51856454T>C	(Likely) benign	1 lab	ad53bcd89f
12:110017742 MVK G>A	12	110017742	110017742	G	A	MVK	c.362G>A	NM_000431.2	NP_000422.1:p.(Arg121Gln)	NC_000012.11:g.110017742G>A	(Likely) benign	1 lab	ad53dea2d3
9:136319489 ADAMTS13 T>C	9	136319489	136319489	T	C	ADAMTS13	c.3045-48T>C	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136319489T>C	(Likely) benign	1 lab	ad58366d71
9:139839919 C8G T>TG	9	139839919	139839927	T	TG	C8G	c.138+17dup	NM_000606.3	NP_000597.2:p.?	NC_000009.11:g.139839927dup	(Likely) benign	1 lab	ad5a0fd155
1:155161107 MUC1 C>T	1	155161107	155161107	C	T	MUC1	c.462-15G>A	NM_001204286.1	NP_001191215.1:p.?	NC_000001.10:g.155161107C>T	VUS	1 lab	ad5d6cd328
9:128099823 GAPVD1 C>T	9	128099823	128099823	C	T	GAPVD1	c.2830C>T	NM_001282679.2	NP_001269608.1:p.(Pro944Ser)	NC_000009.11:g.128099823C>T	(Likely) benign	1 lab	ad5e190e2d
5:37162510 CPLANE1 G>C	5	37162510	37162510	G	C	CPLANE1	c.7690+57C>G	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37162510G>C	(Likely) benign	1 lab	ad87056bb9
1:160105790 ATP1A2 G>A	1	160105790	160105790	G	A	ATP1A2				NC_000001.10:g.160105790G>A	(Likely) benign	1 lab	ad621e9ed2
2:27308667 EMILIN1 C>T	2	27308667	27308667	C	T	EMILIN1	c.2835C>T	NM_007046.4	NP_008977.1:p.(Ser945=)	NC_000002.11:g.27308667C>T	(Likely) benign	1 lab	ad624999a5
17:45822472 TBX21 C>G	17	45822472	45822472	C	G	TBX21	c.1348C>G	NM_013351.2	NP_037483.1:p.(Pro450Ala)	NC_000017.10:g.45822472C>G	(Likely) benign	1 lab	ad62a35dcb
17:41053082 G6PC G>A	17	41053082	41053082	G	A	G6PC				NC_000017.10:g.41053082G>A	(Likely) pathogenic	1 lab	ad62f7da66
13:52518390 ATP7B G>A	13	52518390	52518390	G	A	ATP7B	c.3098C>T	NM_000053.4	NP_000044.2:p.(Thr1033Ile)	NC_000013.10:g.52518390G>A	(Likely) pathogenic	1 lab	ad652c1777
18:52927275 TCF4 GA>G	18	52927275	52927285	GA	G	TCF4	c.991-18del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52927285del	(Likely) benign	1 lab	ad667842a4
3:9934722 JAGN1 C>T	3	9934722	9934722	C	T	JAGN1	c.213C>T	NM_032492.4	NP_115881.3:p.(Pro71=)	NC_000003.11:g.9934722C>T	(Likely) benign	1 lab	ad6b6dbb77
10:18280190 SLC39A12 G>C	10	18280190	18280190	G	C	SLC39A12	c.1380G>C	NM_001145195.2	NP_001138667.1:p.(Leu460Phe)	NC_000010.10:g.18280190G>C	(Likely) benign	1 lab	d59a6e1b45
2:228110706 COL4A3 G>A	2	228110706	228110706	G	A	COL4A3	c.361G>A	NM_000091.4	NP_000082.2:p.(Gly121Ser)	NC_000002.11:g.228110706G>A	(Likely) pathogenic	1 lab	ad6d1fb3d1
5:39288811 C9 T>C	5	39288811	39288811	T	C	C9	c.1645+14A>G	NM_001737.3	NP_001728.1:p.?	NC_000005.9:g.39288811T>C	(Likely) benign	1 lab	ad6d882bb9
16:66503705 BEAN1 C>A	16	66503705	66503705	C	A	BEAN1	c.226C>A	NM_001178020.3	NP_001171491.1:p.(Arg76Ser)	NC_000016.9:g.66503705C>A	(Likely) benign	1 lab	ad75fa1ecf
2:113890304 IL1RN T>C	2	113890304	113890304	T	C	IL1RN	c.288T>C	NM_173843.3	NP_776215.1:p.(Ser96=)	NC_000002.11:g.113890304T>C	(Likely) benign	1 lab	ad7f8c702f
19:11558570 PRKCSH G>A	19	11558570	11558570	G	A	PRKCSH	c.1071G>A	NM_002743.3	NP_002734.2:p.(Pro357=)	NC_000019.9:g.11558570G>A	(Likely) benign	1 lab	ad83caf715
6:32946705 BRD2 C>T	6	32946705	32946705	C	T	BRD2	c.1842-162C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946705C>T	(Likely) benign	1 lab	ad92b39242
3:77607231 ROBO2 T>C	3	77607231	77607231	T	C	ROBO2	c.1368T>C	NM_002942.5	NP_002933.1:p.(Phe456=)	NC_000003.11:g.77607231T>C	(Likely) benign	1 lab	ad93b66135
1:214815453 CENPF AT>A	1	214815453	214815455	AT	A	CENPF	c.3774del	NM_016343.4	NP_057427.3:p.(Ser1259ValfsTer8)	NC_000001.10:g.214815455del	(Likely) pathogenic	1 lab	ad9442b5d9
4:675710 MYL5 T>C	4	675710	675710	T	C	MYL5	c.449T>C	NM_002477.1	NP_002468.1:p.(Ile150Thr)	NC_000004.11:g.675710T>C	(Likely) benign	1 lab	ad9dc4ed4d
1:237919409 RYR2 GA>G	1	237919409	237919418	GA	G	RYR2	c.11146-170del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237919418del	(Likely) benign	1 lab	ad9f0d6188
10:97031417 PDLIM1 G>A	10	97031417	97031417	G	A	PDLIM1	c.221C>T	NM_020992.4	NP_066272.1:p.(Thr74Ile)	NC_000010.10:g.97031417G>A	(Likely) benign	1 lab	ad9f7fa14b
3:38601812 SCN5A C>T	3	38601812	38601812	C	T	SCN5A	c.4071G>A	NM_198056.2	NP_932173.1:p.(Ala1357=)	NC_000003.11:g.38601812C>T	VUS	1 lab	ad9fd9b021
13:39452553 FREM2 C>CG	13	39452553	39452554	C	CG	FREM2	c.8859+95_8859+96insG	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452553_39452554insG	(Likely) benign	1 lab	ada1b6a146
19:39220015 ACTN4 C>T	19	39220015	39220015	C	T	ACTN4	c.2679C>T	NM_004924.6	NP_004915.2:p.(Pro893=)	NC_000019.9:g.39220015C>T	(Likely) benign	1 lab	adabb39fda
8:17824658 PCM1 A>C	8	17824658	17824658	A	C	PCM1	c.3391A>C	NM_006197.4	NP_006188.4:p.(Asn1131His)	NC_000008.10:g.17824658A>C	(Likely) benign	1 lab	adae68d041
14:74951282 NPC2 A>G	14	74951282	74951282	A	G	NPC2	c.199T>C	NM_006432.4	NP_006423.1:p.(Ser67Pro)	NC_000014.8:g.74951282A>G	(Likely) pathogenic	1 lab	adb2984a41
7:154760829 PAXIP1 T>C	7	154760829	154760829	T	C	PAXIP1	c.1082A>G	NM_007349.4	NP_031375.3:p.(Gln361Arg)	NC_000007.13:g.154760829T>C	VUS	1 lab	d59b8fccab
20:401496 RBCK1 C>T	20	401496	401496	C	T	RBCK1	c.757-19C>T	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.401496C>T	(Likely) benign	1 lab	adb3765cde
22:37261021 NCF4 C>T	22	37261021	37261021	C	T	NCF4	c.178C>T	NM_013416.3	NP_038202.2:p.(Arg60Cys)	NC_000022.10:g.37261021C>T	(Likely) benign	1 lab	adb7987df4
16:15932017 MYH11 G>A	16	15932017	15932017	G	A	MYH11	c.93C>T	NM_001040113.2	NP_001035202.1:p.(Ala31=)	NC_000016.9:g.15932017G>A	(Likely) benign	1 lab	adb7f7fb52
9:98638309 ERCC6L2 C>A	9	98638309	98638309	C	A	ERCC6L2				NC_000009.11:g.98638309C>A	(Likely) benign	1 lab	adb80fb255
12:14720553 PLBD1 CGGCA>C	12	14720553	14720558	CGGCA	C	PLBD1	c.74_77del	NM_024829.6	NP_079105.4:p.(Leu25ArgfsTer4)	NC_000012.11:g.14720555_14720558del	(Likely) benign	1 lab	adbd1ec5fa
1:236925843 ACTN2 C>A	1	236925843	236925843	C	A	ACTN2	c.2609C>A	NM_001103.3	NP_001094.1:p.(Ser870Ter)	NC_000001.10:g.236925843C>A	(Likely) pathogenic	1 lab	adc0b09469
5:77397067 AP3B1 G>A	5	77397067	77397067	G	A	AP3B1	c.2398-218C>T	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77397067G>A	(Likely) benign	1 lab	adc41cecf5
18:55342146 ATP8B1 C>T	18	55342146	55342146	C	T	ATP8B1	c.1739G>A	NM_005603.6	NP_005594.2:p.(Ser580Asn)	NC_000018.9:g.55342146C>T	(Likely) benign	1 lab	adcb0644c5
11:57379316 SERPING1 CTG>C	11	57379316	57379318	CTG	C	SERPING1	c.1157_1158del	NM_000062.3	NP_000053.2:p.(Leu386ArgfsTer38)	NC_000011.9:g.57379317_57379318del	(Likely) pathogenic	1 lab	adcd51c5af
21:47412744 COL6A1 G>C	21	47412744	47412744	G	C	COL6A1	c.1335+20G>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47412744G>C	(Likely) benign	1 lab	add0167b24
3:9970062 IL17RC C>T	3	9970062	9970062	C	T	IL17RC	c.1164C>T	NM_153461.4	NP_703191.2:p.(Asp388=)	NC_000003.11:g.9970062C>T	(Likely) benign	1 lab	add1fef227
19:54301640 NLRP12 G>A	19	54301640	54301640	G	A	NLRP12	c.2784C>T	NM_144687.4	NP_653288.1:p.(Ala928=)	NC_000019.9:g.54301640G>A	(Likely) benign	1 lab	add48098e9
11:47372094 MYBPC3 G>T	11	47372094	47372094	G	T	MYBPC3	c.365C>A	NM_000256.3	NP_000247.2:p.(Ala122Asp)	NC_000011.9:g.47372094G>T	VUS	1 lab	add5b2eda0
22:40662828 TNRC6B C>CA	22	40662828	40662830	C	CA	TNRC6B	c.2596dup	NM_001162501.2	NP_001155973.1:p.(Thr866AsnfsTer3)	NC_000022.10:g.40662830dup	(Likely) pathogenic	1 lab	add6087d70
14:103338317 TRAF3 T>G	14	103338317	103338317	T	G	TRAF3	c.297+12T>G	NM_145725.2	NP_663777.1:p.?	NC_000014.8:g.103338317T>G	(Likely) benign	1 lab	addaab8fac
15:93533021 CHD2 C>T	15	93533021	93533021	C	T	CHD2	c.3414-1685C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93533021C>T	(Likely) benign	1 lab	addd5a922c
12:2786400 CACNA1C G>A	12	2786400	2786400	G	A	CACNA1C	c.5100+13G>A	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2786400G>A	(Likely) benign	1 lab	addf79fe66
1:155271303 PKLR C>A	1	155271303	155271303	C	A	PKLR				NC_000001.10:g.155271303C>A	(Likely) benign	1 lab	ade49c7d83
X:10093084 WWC3 G>A	X	10093084	10093084	G	A	WWC3	c.1847G>A	NM_015691.3	NP_056506.2:p.(Cys616Tyr)	NC_000023.10:g.10093084G>A	(Likely) benign	1 lab	ade7afca38
11:47364578 MYBPC3 C>G	11	47364578	47364578	C	G	MYBPC3	c.1345G>C	NM_000256.3	NP_000247.2:p.(Val449Leu)	NC_000011.9:g.47364578C>G	VUS	1 lab	d5a10a2fac
19:54818525 LILRA5 CAAAAA>C	19	54818525	54818551	CAAAAA	C	LILRA5	c.*168_*170del	NM_021250.4	NP_067073.1:p.?	NC_000019.9:g.54818547_54818551del	(Likely) benign	1 lab	adf168dcce
11:2593250 KCNQ1 C>T	11	2593250	2593250	C	T	KCNQ1	c.691C>T	NM_000218.3	NP_000209.2:p.(Arg231Cys)	NC_000011.9:g.2593250C>T	(Likely) pathogenic	1 lab	d5a1a9474b
6:138196151 TNFAIP3 G>A	6	138196151	138196151	G	A	TNFAIP3	c.465G>A	NM_001270508.2	NP_001257437.1:p.(Thr155=)	NC_000006.11:g.138196151G>A	(Likely) benign	1 lab	adf4af07d2
8:41791126 KAT6A C>T	8	41791126	41791126	C	T	KAT6A	c.4612G>A	NM_006766.5	NP_006757.2:p.(Val1538Ile)	NC_000008.10:g.41791126C>T	VUS	1 lab	d5a25a4269
3:186459496 KNG1 A>C	3	186459496	186459496	A	C	KNG1	c.1311A>C	NM_001102416.3	NP_001095886.1:p.(Arg437Ser)	NC_000003.11:g.186459496A>C	(Likely) benign	1 lab	adfca6e3b1
7:77694984 MAGI2 A>G	7	77694984	77694984	A	G	MAGI2	c.3706+13280T>C	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77694984A>G	(Likely) benign	1 lab	adfdf01d9f
1:36933710 CSF3R G>T	1	36933710	36933710	G	T	CSF3R	c.1689C>A	NM_000760.4	NP_000751.1:p.(Thr563=)	NC_000001.10:g.36933710G>T	(Likely) benign	1 lab	ae0088561d
1:113659065 LRIG2 A>G	1	113659065	113659065	A	G	LRIG2	c.2680+7A>G	NM_014813.2	NP_055628.1:p.?	NC_000001.10:g.113659065A>G	(Likely) benign	1 lab	ae0528d436
17:72781754 SLC38A12 C>T	17	72781754	72781754	C	T	SLC38A12	c.167+12C>T	NM_017728.4	NP_060198.3:p.?	NC_000017.10:g.72781754C>T	(Likely) benign	1 lab	ae05a55b41
5:137221896 MYOT G>A	5	137221896	137221896	G	A	MYOT	c.1184G>A	NM_006790.2	NP_006781.1:p.(Arg395Gln)	NC_000005.9:g.137221896G>A	VUS	1 lab	ae0b423069
1:53676865 CPT2 G>A	1	53676865	53676865	G	A	CPT2	c.1519G>A	NM_000098.3	NP_000089.1:p.(Val507Ile)	NC_000001.10:g.53676865G>A	(Likely) benign	1 lab	ae0b813947
10:67829096 CTNNA3 A>C	10	67829096	67829096	A	C	CTNNA3	c.2129T>G	NM_013266.4	NP_037398.2:p.(Met710Arg)	NC_000010.10:g.67829096A>C	VUS	1 lab	ae11d1be73
1:158618480 SPTA1 A>T	1	158618480	158618480	A	T	SPTA1	c.3570-37T>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158618480A>T	(Likely) benign	1 lab	ae15c04f39
7:117188683 CFTR T>TG	7	117188683	117188684	T	TG	CFTR	c.1210-12_1210-11insG	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117188683_117188684insG	(Likely) benign	1 lab	ae1c11ef2f
17:42328928 SLC4A1 C>T	17	42328928	42328928	C	T	SLC4A1	c.2340G>A	NM_000342.4	NP_000333.1:p.(Leu780=)	NC_000017.10:g.42328928C>T	(Likely) benign	1 lab	ae2157a397
14:102451983 DYNC1H1 G>A	14	102451983	102451983	G	A	DYNC1H1	c.1462-41G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102451983G>A	(Likely) benign	1 lab	ae2cd5dbb3
1:9780784 PIK3CD T>G	1	9780784	9780784	T	G	PIK3CD	c.1522-16T>G	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9780784T>G	(Likely) benign	1 lab	ae2d6f80ed
16:10992585 CIITA T>C	16	10992585	10992585	T	C	CIITA	c.354T>C	NM_000246.3	NP_000237.2:p.(Ile118=)	NC_000016.9:g.10992585T>C	(Likely) benign	1 lab	ae2db749cb
2:220286129 DES A>G	2	220286129	220286129	A	G	DES	c.1091A>G	NM_001927.3	NP_001918.3:p.(Gln364Arg)	NC_000002.11:g.220286129A>G	VUS	1 lab	ae349c27ca
2:241812444 AGXT C>T	2	241812444	241812444	C	T	AGXT	c.573C>T	NM_000030.3	NP_000021.1:p.(Thr191=)	NC_000002.11:g.241812444C>T	(Likely) benign	1 lab	ae36a1fdcf
11:101359649 TRPC6 CCAGGCTTCACATA>C	11	101359649	101359664	CCAGGCTTCACATA	C	TRPC6	c.1293+6_1293+18del	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101359652_101359664del	(Likely) benign	1 lab	ae3e93ed9f
8:41591534 ANK1 C>G	8	41591534	41591534	C	G	ANK1	c.183G>C	NM_000037.4	NP_000028.3:p.(Val61=)	NC_000008.10:g.41591534C>G	(Likely) benign	1 lab	ae42667c80
5:90368429 ADGRV1 A>G	5	90368429	90368429	A	G	ADGRV1	c.18310+8A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90368429A>G	(Likely) benign	1 lab	ae44431d4e
8:17932853 ASAH1 A>G	8	17932853	17932853	A	G	ASAH1	c.173+197T>C	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17932853A>G	(Likely) benign	1 lab	ae479a1da6
10:69881792 MYPN C>T	10	69881792	69881792	C	T	MYPN	c.597C>T	NM_032578.3	NP_115967.2:p.(Phe199=)	NC_000010.10:g.69881792C>T	(Likely) benign	1 lab	ae4a4d8ba2
10:119799643 RAB11FIP2 G>C	10	119799643	119799643	G	C	RAB11FIP2	c.787C>G	NM_014904.3	NP_055719.1:p.(Pro263Ala)	NC_000010.10:g.119799643G>C	VUS	1 lab	ae4ada57a8
4:79440747 FRAS1 A>T	4	79440747	79440747	A	T	FRAS1	c.10540+112A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79440747A>T	(Likely) benign	1 lab	ae532642bb
11:64573703 MEN1 C>T	11	64573703	64573703	C	T	MEN1	c.1064+1G>A	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64573703C>T	(Likely) pathogenic	1 lab	ae589b4332
17:36099449 HNF1B GCTTT>G	17	36099449	36099455	GCTTT	G	HNF1B	c.522_525del	NM_000458.4	NP_000449.1:p.(Arg174SerfsTer19)	NC_000017.10:g.36099452_36099455del	(Likely) pathogenic	1 lab	ae5b71b563
17:41256372 BRCA1 T>G	17	41256372	41256372	T	G	BRCA1	c.302-94A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256372T>G	(Likely) benign	1 lab	ae5e5057b9
5:90398030 ADGRV1 T>C	5	90398030	90398030	T	C	ADGRV1	c.18311-6T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90398030T>C	(Likely) benign	1 lab	af53b00a01
1:196311284 KCNT2 A>G	1	196311284	196311284	A	G	KCNT2	c.1478T>C	NM_198503.5	NP_940905.2:p.(Val493Ala)	NC_000001.10:g.196311284A>G	(Likely) benign	1 lab	ae5ef95df3
19:52249272 FPR1 C>T	19	52249272	52249272	C	T	FPR1	c.976G>A	NM_002029.4	NP_002020.1:p.(Glu326Lys)	NC_000019.9:g.52249272C>T	VUS	1 lab	d5a9f58c50
9:14842560 FREM1 G>A	9	14842560	14842560	G	A	FREM1	c.1492C>T	NM_144966.5	NP_659403.4:p.(Arg498Trp)	NC_000009.11:g.14842560G>A	(Likely) benign	1 lab	ae64770b36
19:54308937 NLRP12 C>A	19	54308937	54308937	C	A	NLRP12	c.2247-233G>T	NM_001277126.2	NP_001264055.1:p.?	NC_000019.9:g.54308937C>A	(Likely) benign	1 lab	ae64c7486b
15:45357547 SORD C>T	15	45357547	45357547	C	T	SORD	c.504C>T	NM_003104.6	NP_003095.2:p.(Gly168=)	NC_000015.9:g.45357547C>T	(Likely) benign	1 lab	af6c78fffe
X:20194479 RPS6KA3 GA>G	X	20194479	20194489	GA	G	RPS6KA3	c.1000-10del	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20194489del	(Likely) benign	1 lab	ae68f1932e
18:60052179 TNFRSF11A T>C	18	60052179	60052179	T	C	TNFRSF11A	c.1721T>C	NM_001278268.2	NP_001265197.1:p.(Phe574Ser)	NC_000018.9:g.60052179T>C	(Likely) benign	1 lab	ae69c5d9f4
11:1780704 CTSD A>G	11	1780704	1780704	A	G	CTSD	c.352+42T>C	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1780704A>G	(Likely) benign	1 lab	ae6d4f6268
1:155265472 PKLR G>A	1	155265472	155265472	G	A	PKLR	c.359C>T	NM_000298.6	NP_000289.1:p.(Ser120Phe)	NC_000001.10:g.155265472G>A	(Likely) pathogenic	1 lab	ae6de0cb39
15:74481520 STRA6 G>A	15	74481520	74481520	G	A	STRA6	c.1143C>T	NM_001199042.2	NP_001185971.1:p.(Ile381=)	NC_000015.9:g.74481520G>A	(Likely) benign	1 lab	ae6ee17fe1
16:88792104 PIEZO1 C>T	16	88792104	88792104	C	T	PIEZO1	c.3969-12G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88792104C>T	(Likely) benign	1 lab	ae79737277
4:88986745 PKD2 C>CT	4	88986745	88986760	C	CT	PKD2	c.2240+113dup	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88986760dup	(Likely) benign	1 lab	ae7adcecec
18:55364911 ATP8B1 G>T	18	55364911	55364911	G	T	ATP8B1	c.637C>A	NM_005603.6	NP_005594.2:p.(Leu213Ile)	NC_000018.9:g.55364911G>T	VUS	1 lab	ae7b30fa45
6:7558461 DSP G>C	6	7558461	7558461	G	C	DSP	c.386G>C	NM_004415.2	NP_004406.2:p.(Arg129Pro)	NC_000006.11:g.7558461G>C	VUS	1 lab	ae7ed20235
5:90151795 ADGRV1 C>A	5	90151795	90151795	C	A	ADGRV1	c.17755+77C>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90151795C>A	(Likely) benign	1 lab	ae86a7d849
3:77656980 ROBO2 A>G	3	77656980	77656980	A	G	ROBO2	c.3168A>G	NM_002942.5	NP_002933.1:p.(Lys1056=)	NC_000003.11:g.77656980A>G	(Likely) benign	1 lab	ae8a27d236
5:112175310 APC C>T	5	112175310	112175310	C	T	APC	c.4019C>T	NM_000038.6	NP_000029.2:p.(Ser1340Phe)	NC_000005.9:g.112175310C>T	VUS	1 lab	d5ab8d8d06
22:32194581 DEPDC5 A>G	22	32194581	32194581	A	G	DEPDC5	c.885A>G	NM_001242896.3	NP_001229825.1:p.(Gln295=)	NC_000022.10:g.32194581A>G	(Likely) benign	1 lab	ae8d1f2203
16:27639962 KATNIP A>G	16	27639962	27639962	A	G	KATNIP	c.141-20A>G	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27639962A>G	(Likely) benign	1 lab	ae8dd798d8
2:179415905 TTN G>A	2	179415905	179415905	G	A	TTN	c.91353C>T	NM_001267550.1	NP_001254479.1:p.(Gly30451=)	NC_000002.11:g.179415905G>A	(Likely) benign	1 lab	ae92a2664d
6:99365568 FBXL4 A>C	6	99365568	99365568	A	C	FBXL4	c.540T>G	NM_012160.4	NP_036292.2:p.(Pro180=)	NC_000006.11:g.99365568A>C	(Likely) benign	1 lab	ae933935b1
2:228029515 COL4A3 C>T	2	228029515	228029515	C	T	COL4A3	c.73C>T	NM_000091.4	NP_000082.2:p.(Pro25Ser)	NC_000002.11:g.228029515C>T	(Likely) benign	1 lab	ae98640084
15:68504160 CLN6 C>T	15	68504160	68504160	C	T	CLN6	c.339G>A	NM_017882.3	NP_060352.1:p.(Thr113=)	NC_000015.9:g.68504160C>T	(Likely) benign	1 lab	ae9a42b709
22:37332649 CSF2RB C>A	22	37332649	37332649	C	A	CSF2RB	c.1523C>A	NM_000395.3	NP_000386.1:p.(Pro508His)	NC_000022.10:g.37332649C>A	(Likely) benign	1 lab	ae9ccf59d8
10:81373474 SFTPA1 C>T	10	81373474	81373474	C	T	SFTPA1	c.371-19C>T	NM_005411.5	NP_005402.3:p.?	NC_000010.10:g.81373474C>T	(Likely) benign	1 lab	ae9f163a2a
11:47371424 MYBPC3 C>T	11	47371424	47371424	C	T	MYBPC3	c.555G>A	NM_000256.3	NP_000247.2:p.(Lys185=)	NC_000011.9:g.47371424C>T	(Likely) benign	1 lab	aea876bc2f
4:79434685 FRAS1 T>G	4	79434685	79434685	T	G	FRAS1	c.10153T>G	NM_025074.7	NP_079350.5:p.(Tyr3385Asp)	NC_000004.11:g.79434685T>G	(Likely) benign	1 lab	aeaf29731d
5:179195903 MAML1 C>T	5	179195903	179195903	C	T	MAML1	c.1784C>T	NM_014757.5	NP_055572.1:p.(Thr595Ile)	NC_000005.9:g.179195903C>T	(Likely) benign	1 lab	d5ac8ee0d6
1:196801023 CFHR1 C>T	1	196801023	196801023	C	T	CFHR1	c.887C>T	NM_002113.2	NP_002104.2:p.(Ala296Val)	NC_000001.10:g.196801023C>T	(Likely) benign	1 lab	aebf1171c5
18:47363963 MYO5B T>C	18	47363963	47363963	T	C	MYO5B	c.5062A>G	NM_001080467.3	NP_001073936.1:p.(Met1688Val)	NC_000018.9:g.47363963T>C	(Likely) benign	1 lab	aec24f647d
16:23634417 PALB2 T>G	16	23634417	23634417	T	G	PALB2	c.2869A>C	NM_024675.3	NP_078951.2:p.(Lys957Gln)	NC_000016.9:g.23634417T>G	VUS	1 lab	aec44f5da0
6:135611614 AHI1 C>A	6	135611614	135611614	C	A	AHI1	c.3535G>T	NM_017651.4	NP_060121.3:p.(Asp1179Tyr)	NC_000006.11:g.135611614C>A	(Likely) benign	1 lab	aec87f9c36
9:35802583 NPR2 C>T	9	35802583	35802583	C	T	NPR2	c.1794C>T	NM_003995.4	NP_003986.2:p.(Tyr598=)	NC_000009.11:g.35802583C>T	(Likely) benign	1 lab	d5ada0bcf9
X:153225584 HCFC1 T>C	X	153225584	153225584	T	C	HCFC1	c.1113A>G	NM_005334.3	NP_005325.2:p.(Gln371=)	NC_000023.10:g.153225584T>C	(Likely) benign	1 lab	aec9e58164
X:19375782 PDHA1 A>C	X	19375782	19375782	A	C	PDHA1	c.958A>C	NM_001173454.1	NP_001166925.1:p.(Met320Leu)	NC_000023.10:g.19375782A>C	(Likely) benign	1 lab	aecc521a46
1:116244012 CASQ2 G>A	1	116244012	116244012	G	A	CASQ2	c.1050C>T	NM_001232.3	NP_001223.2:p.(Asp350=)	NC_000001.10:g.116244012G>A	(Likely) benign	1 lab	aecdc971a1
6:47445985 CD2AP G>A	6	47445985	47445985	G	A	CD2AP	c.4+1G>A	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47445985G>A	(Likely) pathogenic	1 lab	aed3239dca
2:166909560 SCN1A G>A	2	166909560	166909560	G	A	SCN1A	c.603-107C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909560G>A	(Likely) benign	1 lab	aed494d266
11:47363721 MYBPC3 C>A	11	47363721	47363721	C	A	MYBPC3	c.1625-14G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363721C>A	(Likely) benign	1 lab	aee1042bef
5:1214064 SLC6A19 G>A	5	1214064	1214064	G	A	SLC6A19	c.775-4G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1214064G>A	(Likely) benign	1 lab	aee29d1061
1:247587967 NLRP3 A>G	1	247587967	247587967	A	G	NLRP3	c.1216A>G	NM_001243133.2	NP_001230062.1:p.(Met406Val)	NC_000001.10:g.247587967A>G	(Likely) pathogenic	1 lab	aeeaff9a1f
11:67816543 TCIRG1 G>A	11	67816543	67816543	G	A	TCIRG1	c.780-5G>A	NM_001351059.2	NP_001337988.1:p.?	NC_000011.9:g.67816543G>A	(Likely) benign	1 lab	aef27c49ca
6:47547070 CD2AP T>TAAA	6	47547070	47547084	T	TAAA	CD2AP	c.904-39_904-37dup	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47547082_47547084dup	(Likely) benign	1 lab	aef2b916f5
5:40972543 C7 CAG>C	5	40972543	40972547	CAG	C	C7	c.1924_1925del	NM_000587.4	NP_000578.2:p.(His643ProfsTer10)	NC_000005.9:g.40972546_40972547del	(Likely) pathogenic	1 lab	aef4e2b908
2:227953486 COL4A4 A>AG	2	227953486	227953492	A	AG	COL4A4	c.1505dup	NM_000092.4	NP_000083.3:p.(Gly503TrpfsTer12)	NC_000002.11:g.227953492dup	(Likely) pathogenic	1 lab	aed18e58b3
2:179426129 TTN A>G	2	179426129	179426129	A	G	TTN	c.57910T>C	NM_133432.3	NP_597676.3:p.(Cys19304Arg)	NC_000002.11:g.179426129A>G	VUS	1 lab	aef9ba5e26
6:20402810 E2F3 C>T	6	20402810	20402810	C	T	E2F3	c.347C>T	NM_001949.5	NP_001940.1:p.(Pro116Leu)	NC_000006.11:g.20402810C>T	(Likely) benign	1 lab	aef9ce864f
9:130586697 ENG C>T	9	130586697	130586697	C	T	ENG	c.1020G>A	NM_000118.3	NP_000109.1:p.(Pro340=)	NC_000009.11:g.130586697C>T	(Likely) benign	1 lab	aefccd4b32
10:13237101 MCM10 C>T	10	13237101	13237101	C	T	MCM10	c.1809C>T	NM_182751.3	NP_877428.1:p.(Pro603=)	NC_000010.10:g.13237101C>T	(Likely) benign	1 lab	aefdf4370c
6:7575657 DSP T>C	6	7575657	7575657	T	C	DSP	c.2566T>C	NM_004415.2	NP_004406.2:p.(Phe856Leu)	NC_000006.11:g.7575657T>C	VUS	1 lab	aefe37417b
X:21627492 CNKSR2 C>T	X	21627492	21627492	C	T	CNKSR2	c.2449C>T	NM_014927.5	NP_055742.2:p.(Leu817=)	NC_000023.10:g.21627492C>T	(Likely) benign	1 lab	aeff9b6fbb
9:131015377 DNM1 C>G	9	131015377	131015377	C	G	DNM1	c.2535-3C>G	NM_001005336.3	NP_001005336.1:p.?	NC_000009.11:g.131015377C>G	(Likely) benign	1 lab	af03427e96
3:178937400 PIK3CA A>G	3	178937400	178937400	A	G	PIK3CA	c.1788A>G	NM_006218.2	NP_006209.2:p.(Glu596=)	NC_000003.11:g.178937400A>G	(Likely) benign	1 lab	af090c229f
17:62008721 CD79B G>A	17	62008721	62008721	G	A	CD79B	c.92C>T	NM_000626.4	NP_000617.1:p.(Ser31Leu)	NC_000017.10:g.62008721G>A	(Likely) benign	1 lab	af0a21e794
12:98941637 TMPO A>G	12	98941637	98941637	A	G	TMPO	c.*1A>G	NM_001032283.2	NP_001027454.1:p.?	NC_000012.11:g.98941637A>G	(Likely) benign	1 lab	af0b37522e
11:117246503 CEP164 G>A	11	117246503	117246503	G	A	CEP164	c.1313G>A	NM_014956.5	NP_055771.4:p.(Arg438Gln)	NC_000011.9:g.117246503G>A	(Likely) benign	1 lab	af0b6676fe
3:49163854 LAMB2 C>G	3	49163854	49163854	C	G	LAMB2	c.2095G>C	NM_002292.4	NP_002283.3:p.(Gly699Arg)	NC_000003.11:g.49163854C>G	(Likely) benign	1 lab	af0d331595
6:160106070 SOD2 T>A	6	160106070	160106070	T	A	SOD2	c.344-5A>T	NM_000636.4	NP_000627.2:p.?	NC_000006.11:g.160106070T>A	(Likely) benign	1 lab	aff69edf49
16:4847993 ROGDI G>A	16	4847993	4847993	G	A	ROGDI	c.646-5C>T	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4847993G>A	(Likely) benign	1 lab	af13135d1d
12:6701714 CHD4 C>CA	12	6701714	6701720	C	CA	CHD4	c.2792dup	NM_001273.5	NP_001264.2:p.(Leu931PhefsTer6)	NC_000012.11:g.6701720dup	VUS	1 lab	af14081521
X:107842003 COL4A5 A>AG	X	107842003	107842006	A	AG	COL4A5	c.1854dup	NM_000495.5	NP_000486.1:p.(Pro619AlafsTer15)	NC_000023.10:g.107842006dup	(Likely) pathogenic	1 lab	af17c2c97c
5:236696 SDHA G>A	5	236696	236696	G	A	SDHA	c.1414G>A	NM_004168.4	NP_004159.2:p.(Glu472Lys)	NC_000005.9:g.236696G>A	(Likely) benign	1 lab	af19f96083
3:142241698 ATR A>C	3	142241698	142241698	A	C	ATR	c.4153-15T>G	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142241698A>C	(Likely) benign	1 lab	af1af32821
12:110028635 MVK T>C	12	110028635	110028635	T	C	MVK	c.737T>C	NM_000431.2	NP_000422.1:p.(Leu246Pro)	NC_000012.11:g.110028635T>C	(Likely) pathogenic	1 lab	af1b3b2eb1
19:39208713 ACTN4 C>T	19	39208713	39208713	C	T	ACTN4	c.1290C>T	NM_004924.6	NP_004915.2:p.(Asp430=)	NC_000019.9:g.39208713C>T	(Likely) benign	1 lab	af21dec611
2:109381245 RANBP2 G>A	2	109381245	109381245	G	A	RANBP2	c.4250G>A	NM_006267.5	NP_006258.3:p.(Gly1417Asp)	NC_000002.11:g.109381245G>A	VUS	1 lab	d5b8829ba9
1:183525282 NCF2 C>G	1	183525282	183525282	C	G	NCF2	c.1552G>C	NM_000433.3	NP_000424.2:p.(Asp518His)	NC_000001.10:g.183525282C>G	(Likely) benign	1 lab	af2beb2f55
X:48547317 WAS G>A	X	48547317	48547317	G	A	WAS	c.1200G>A	NM_000377.2	NP_000368.1:p.(Pro400=)	NC_000023.10:g.48547317G>A	VUS	1 lab	af2d1fcaab
14:67389559 GPHN A>G	14	67389559	67389559	A	G	GPHN	c.633A>G	NM_020806.4	NP_065857.1:p.(Gln211=)	NC_000014.8:g.67389559A>G	(Likely) benign	1 lab	af335480d0
1:12058606 MFN2 AAAAAC>A	1	12058606	12058632	AAAAAC	A	MFN2	c.600-199_600-195del	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12058628_12058632del	(Likely) benign	1 lab	af347855f0
20:61981757 CHRNA4 G>A	20	61981757	61981757	G	A	CHRNA4	c.1006C>T	NM_000744.6	NP_000735.1:p.(Arg336Cys)	NC_000020.10:g.61981757G>A	(Likely) benign	1 lab	af36567107
2:39285800 SOS1 T>TAG	2	39285800	39285802	T	TAG	SOS1	c.345+12_345+13dup	NM_005633.3	NP_005624.2:p.?	NC_000002.11:g.39285801_39285802dup	(Likely) benign	1 lab	af36acfdff
9:6604775 GLDC A>C	9	6604775	6604775	A	C	GLDC	c.871T>G	NM_000170.2	NP_000161.2:p.(Cys291Gly)	NC_000009.11:g.6604775A>C	(Likely) benign	1 lab	af379c50c3
9:77386641 TRPM6 G>T	9	77386641	77386641	G	T	TRPM6	c.3514C>A	NM_017662.5	NP_060132.3:p.(Arg1172=)	NC_000009.11:g.77386641G>T	(Likely) benign	1 lab	af3912a55c
17:41249203 BRCA1 T>C	17	41249203	41249203	T	C	BRCA1	c.593+58A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249203T>C	(Likely) benign	1 lab	af3b780b55
16:67682049 CARMIL2 TG>T	16	67682049	67682055	TG	T	CARMIL2	c.1172del	NM_001013838.3	NP_001013860.1:p.(Gly391AspfsTer3)	NC_000016.9:g.67682055del	(Likely) pathogenic	1 lab	af3f1a8913
10:8096869 GATA3 C>CT	10	8096869	8096882	C	CT	GATA3	c.-370+28dup	NM_001002295.2	NP_001002295.1:p.?	NC_000010.10:g.8096882dup	(Likely) benign	1 lab	af403ae6c3
5:79030623 CMYA5 C>T	5	79030623	79030623	C	T	CMYA5	c.6035C>T	NM_153610.5	NP_705838.3:p.(Ser2012Phe)	NC_000005.9:g.79030623C>T	(Likely) benign	1 lab	af4114fc85
7:128487875 FLNC A>T	7	128487875	128487875	A	T	FLNC	c.4413A>T	NM_001458.4	NP_001449.3:p.(Gln1471His)	NC_000007.13:g.128487875A>T	VUS	1 lab	af42704b24
12:6443290 TNFRSF1A T>C	12	6443290	6443290	T	C	TNFRSF1A	c.160A>G	NM_001065.3	NP_001056.1:p.(Asn54Asp)	NC_000012.11:g.6443290T>C	VUS	1 lab	af4970c2e0
1:155307999 ASH1L GT>G	1	155307999	155308008	GT	G	ASH1L	c.8683del	NM_018489.3	NP_060959.2:p.(Thr2895GlnfsTer44)	NC_000001.10:g.155308008del	VUS	1 lab	d5baa91878
7:94043493 COL1A2 G>A	7	94043493	94043493	G	A	COL1A2	c.1666-41G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94043493G>A	(Likely) benign	1 lab	d5bdcb293f
16:3712123 TRAP1 C>T	16	3712123	3712123	C	T	TRAP1	c.1805G>A	NM_016292.3	NP_057376.2:p.(Arg602Gln)	NC_000016.9:g.3712123C>T	(Likely) benign	1 lab	af52d325fe
15:89869973 POLG TG>T	15	89869973	89869974	TG	T	POLG	c.1586-5del	NM_002693.3	NP_002684.1:p.?	NC_000015.9:g.89869974del	(Likely) benign	1 lab	af55bb3abc
21:38884966 DYRK1A A>AT	21	38884966	38884976	A	AT	DYRK1A	c.*142dup	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38884976dup	(Likely) benign	1 lab	af55bc7c7c
1:156105064 LMNA C>G	1	156105064	156105064	C	G	LMNA				NC_000001.10:g.156105064C>G	VUS	1 lab	af60865819
11:65639727 EFEMP2 G>A	11	65639727	65639727	G	A	EFEMP2	c.99C>T	NM_016938.5	NP_058634.4:p.(Pro33=)	NC_000011.9:g.65639727G>A	(Likely) benign	1 lab	af6a5fd7d8
8:68340184 CPA6 T>A	8	68340184	68340184	T	A	CPA6	c.1126+98A>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68340184T>A	(Likely) benign	1 lab	af6d798fac
X:153579341 FLNA G>T	X	153579341	153579341	G	T	FLNA	c.7092C>A	NM_001110556.2	NP_001104026.1:p.(Ile2364=)	NC_000023.10:g.153579341G>T	(Likely) benign	1 lab	af717a4055
7:128483881 FLNC G>A	7	128483881	128483881	G	A	FLNC	c.2843G>A	NM_001458.4	NP_001449.3:p.(Gly948Glu)	NC_000007.13:g.128483881G>A	VUS	1 lab	af7410ae84
20:402971 RBCK1 CT>C	20	402971	402983	CT	C	RBCK1	c.1029+101del	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.402983del	(Likely) benign	1 lab	af74ee7dd4
16:23379135 SCNN1B C>T	16	23379135	23379135	C	T	SCNN1B	c.777-42C>T	NM_000336.3	NP_000327.2:p.?	NC_000016.9:g.23379135C>T	(Likely) benign	1 lab	af7c033b82
1:228560355 OBSCN C>T	1	228560355	228560355	C	T	OBSCN	c.24747C>T	NM_001271223.2	NP_001258152.2:p.(Ala8249=)	NC_000001.10:g.228560355C>T	(Likely) benign	1 lab	af7d36c1e8
2:179518748 TTN C>T	2	179518748	179518748	C	T	TTN	c.38455G>A	NM_001267550.1	NP_001254479.1:p.(Ala12819Thr)	NC_000002.11:g.179518748C>T	(Likely) benign	1 lab	af8c7fbc31
19:7705714 STXBP2 G>C	19	7705714	7705714	G	C	STXBP2	c.358+19G>C	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7705714G>C	(Likely) benign	1 lab	af8d43a4ea
13:37393564 RFXAP C>G	13	37393564	37393564	C	G	RFXAP	c.70C>G	NM_000538.3	NP_000529.1:p.(Leu24Val)	NC_000013.10:g.37393564C>G	(Likely) benign	1 lab	af90380ada
1:158639586 SPTA1 T>C	1	158639586	158639586	T	C	SPTA1	c.1600-10A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158639586T>C	(Likely) benign	1 lab	af9ac22b8b
11:108188096 ATM T>G	11	108188096	108188096	T	G	ATM	c.6199-4T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108188096T>G	(Likely) benign	1 lab	af9b9e73dd
5:37157484 CPLANE1 C>T	5	37157484	37157484	C	T	CPLANE1	c.7957+288G>A	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37157484C>T	(Likely) benign	1 lab	af9cb378a6
16:15814713 MYH11 T>G	16	15814713	15814713	T	G	MYH11	c.4795A>C	NM_001040113.2	NP_001035202.1:p.(Arg1599=)	NC_000016.9:g.15814713T>G	(Likely) benign	1 lab	afa3d34ecb
1:6278389 RNF207 A>T	1	6278389	6278389	A	T	RNF207	c.1693A>T	NM_207396.3	NP_997279.2:p.(Asn565Tyr)	NC_000001.10:g.6278389A>T	VUS	1 lab	afa6c77f75
5:161531031 GABRG2 C>T	5	161531031	161531031	C	T	GABRG2				NC_000005.9:g.161531031C>T	(Likely) benign	1 lab	afaa19a5e4
21:34939496 SON G>T	21	34939496	34939496	G	T	SON	c.6691G>T	NM_138927.4	NP_620305.3:p.(Ala2231Ser)	NC_000021.8:g.34939496G>T	VUS	1 lab	d5c68c0ab9
17:5436233 NLRP1 G>A	17	5436233	5436233	G	A	NLRP1	c.3205C>T	NM_033004.4	NP_127497.1:p.(His1069Tyr)	NC_000017.10:g.5436233G>A	(Likely) benign	1 lab	afaf733bcd
3:64132564 PRICKLE2 C>T	3	64132564	64132564	C	T	PRICKLE2	c.1602G>A	NM_198859.4	NP_942559.1:p.(Thr534=)	NC_000003.11:g.64132564C>T	(Likely) benign	1 lab	afafafbbdf
9:14770580 FREM1 G>A	9	14770580	14770580	G	A	FREM1	c.5059+23C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14770580G>A	(Likely) benign	1 lab	afb43a065e
8:133146758 KCNQ3 AGAG>A	8	133146758	133146764	AGAG	A	KCNQ3	c.1701-126_1701-124del	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133146762_133146764del	(Likely) benign	1 lab	afba76cb40
5:1294058 TERT G>T	5	1294058	1294058	G	T	TERT	c.943C>A	NM_198253.2	NP_937983.2:p.(Arg315Ser)	NC_000005.9:g.1294058G>T	(Likely) benign	1 lab	afbb34a3a6
7:107434217 SLC26A3 T>C	7	107434217	107434217	T	C	SLC26A3	c.241A>G	NM_000111.2	NP_000102.1:p.(Ile81Val)	NC_000007.13:g.107434217T>C	(Likely) benign	1 lab	afbe99fc2a
12:110012766 MVK A>G	12	110012766	110012766	A	G	MVK	c.78+61A>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110012766A>G	(Likely) benign	1 lab	afc3201952
18:59712910 PIGN G>GA	18	59712910	59712919	G	GA	PIGN	c.*178dup	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59712919dup	(Likely) benign	1 lab	afe5482d17
11:128781632 KCNJ5 G>A	11	128781632	128781632	G	A	KCNJ5	c.464G>A	NM_000890.3	NP_000881.3:p.(Arg155Gln)	NC_000011.9:g.128781632G>A	VUS	1 lab	afc7e14555
17:41199800 BRCA1 T>C	17	41199800	41199800	T	C	BRCA1	c.5407-80A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199800T>C	(Likely) benign	1 lab	afc9d1fa6a
16:49671101 ZNF423 G>A	16	49671101	49671101	G	A	ZNF423	c.1782C>T	NM_001271620.2	NP_001258549.1:p.(His594=)	NC_000016.9:g.49671101G>A	(Likely) benign	1 lab	afc9f95604
11:70052077 FADD G>GA	11	70052077	70052078	G	GA	FADD	c.287-162_287-161insA	NM_003824.3	NP_003815.1:p.?	NC_000011.9:g.70052077_70052078insA	(Likely) benign	1 lab	afca6d42dd
6:35280225 DEF6 G>A	6	35280225	35280225	G	A	DEF6	c.570G>A	NM_022047.4	NP_071330.3:p.(Ser190=)	NC_000006.11:g.35280225G>A	(Likely) benign	1 lab	afca8158cf
16:28499991 CLN3 G>A	16	28499991	28499991	G	A	CLN3	c.223-8C>T	NM_001042432.1	NP_001035897.1:p.?	NC_000016.9:g.28499991G>A	(Likely) benign	1 lab	afccb1a0e4
16:3304709 MEFV G>A	16	3304709	3304709	G	A	MEFV	c.359C>T	NM_000243.2	NP_000234.1:p.(Thr120Ile)	NC_000016.9:g.3304709G>A	(Likely) benign	1 lab	afcd55d044
12:6442917 TNFRSF1A G>C	12	6442917	6442917	G	C	TNFRSF1A	c.308C>G	NM_001065.3	NP_001056.1:p.(Ser103Cys)	NC_000012.11:g.6442917G>C	(Likely) pathogenic	1 lab	afceeb4406
19:7707001 STXBP2 CGAGGTGAGGGGGCGTGCTTGG>C	19	7707001	7707033	CGAGGTGAGGGGGCGTGCTTGG	C	STXBP2	c.663+9_663+29del	NM_006949.4	NP_008880.2:p.?	NC_000019.9:g.7707013_7707033del	VUS	1 lab	afd570b5a0
17:41219560 BRCA1 C>T	17	41219560	41219560	C	T	BRCA1	c.5074+65G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219560C>T	(Likely) benign	1 lab	afe177582c
11:62406440 GANAB T>C	11	62406440	62406440	T	C	GANAB	c.380+15A>G	NM_198335.4	NP_938149.2:p.?	NC_000011.9:g.62406440T>C	(Likely) benign	1 lab	afeb184d91
15:57925836 GCOM1 C>T	15	57925836	57925836	C	T	GCOM1	c.830C>T	NM_001285900.3	NP_001272829.1:p.(Ala277Val)	NC_000015.9:g.57925836C>T	(Likely) benign	1 lab	afefacc682
17:48267755 COL1A1 A>T	17	48267755	48267755	A	T	COL1A1	c.2398-14T>A	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48267755A>T	(Likely) benign	1 lab	aff463069d
8:106814981 ZFPM2 G>T	8	106814981	106814981	G	T	ZFPM2	c.2671G>T	NM_012082.4	NP_036214.2:p.(Asp891Tyr)	NC_000008.10:g.106814981G>T	VUS	1 lab	d5cd3ffd4f
11:117864047 IL10RA A>G	11	117864047	117864047	A	G	IL10RA	c.459A>G	NM_001558.3	NP_001549.2:p.(Ala153=)	NC_000011.9:g.117864047A>G	(Likely) benign	1 lab	aff70e158d
17:5462842 NLRP1 G>C	17	5462842	5462842	G	C	NLRP1	c.1174C>G	NM_033004.4	NP_127497.1:p.(Pro392Ala)	NC_000017.10:g.5462842G>C	(Likely) benign	1 lab	affb29b132
16:75579242 TMEM231 G>C	16	75579242	75579242	G	C	TMEM231	c.741+8C>G	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75579242G>C	(Likely) benign	1 lab	affbcf94fa
19:33980958 PEPD G>A	19	33980958	33980958	G	A	PEPD	c.447C>T	NM_000285.4	NP_000276.2:p.(Gly149=)	NC_000019.9:g.33980958G>A	(Likely) benign	1 lab	affc34810b
13:32905246 BRCA2 C>G	13	32905246	32905246	C	G	BRCA2	c.793+79C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905246C>G	(Likely) benign	1 lab	b00050c956
6:33635694 ITPR3 C>T	6	33635694	33635694	C	T	ITPR3	c.1839C>T	NM_002224.3	NP_002215.2:p.(Thr613=)	NC_000006.11:g.33635694C>T	(Likely) benign	1 lab	b00862c3b7
18:19418428 MIB1 C>T	18	19418428	19418428	C	T	MIB1	c.1932C>T	NM_020774.3	NP_065825.1:p.(His644=)	NC_000018.9:g.19418428C>T	(Likely) benign	1 lab	b00b626cba
10:78778764 KCNMA1 C>T	10	78778764	78778764	C	T	KCNMA1	c.2027+7G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78778764C>T	(Likely) benign	1 lab	b00ce00847
12:110032951 MVK G>C	12	110032951	110032951	G	C	MVK	c.1004G>C	NM_000431.2	NP_000422.1:p.(Gly335Ala)	NC_000012.11:g.110032951G>C	VUS	1 lab	b00d1295c2
1:206567084 MISSING C>T	1	206567084	206567084	C	T	MISSING				NC_000001.10:g.206567084C>T	(Likely) benign	1 lab	b012ffae7b
3:49159190 LAMB2 C>A	3	49159190	49159190	C	A	LAMB2	c.5027G>T	NM_002292.4	NP_002283.3:p.(Gly1676Val)	NC_000003.11:g.49159190C>A	(Likely) benign	1 lab	b015055a9d
7:128484121 FLNC A>T	7	128484121	128484121	A	T	FLNC	c.2993A>T	NM_001458.4	NP_001449.3:p.(Gln998Leu)	NC_000007.13:g.128484121A>T	VUS	1 lab	b01e178d26
2:219757868 WNT10A T>G	2	219757868	219757868	T	G	WNT10A	c.1129T>G	NM_025216.3	NP_079492.2:p.(Cys377Gly)	NC_000002.11:g.219757868T>G	(Likely) pathogenic	1 lab	b025c7cb20
11:63990829 FERMT3 C>CGT	11	63990829	63990833	C	CGT	FERMT3	c.1860_1861dup	NM_031471.6	NP_113659.3:p.(Ser621CysfsTer150)	NC_000011.9:g.63990832_63990833dup	(Likely) pathogenic	1 lab	b027af62f7
14:92336640 FBLN5 G>A	14	92336640	92336640	G	A	FBLN5	c.1275C>T	NM_006329.3	NP_006320.2:p.(Val425=)	NC_000014.8:g.92336640G>A	(Likely) benign	1 lab	b02cd1b544
17:41199707 BRCA1 AT>A	17	41199707	41199709	AT	A	BRCA1	c.5419del	NM_007294.4	NP_009225.1:p.(Ile1807LeufsTer27)	NC_000017.10:g.41199709del	(Likely) pathogenic	1 lab	b02ce74b21
X:18958144 PHKA2 A>G	X	18958144	18958144	A	G	PHKA2	c.887T>C	NM_000292.3	NP_000283.1:p.(Phe296Ser)	NC_000023.10:g.18958144A>G	(Likely) pathogenic	1 lab	b02ddfda8c
9:32472965 RIGI A>G	9	32472965	32472965	A	G	RIGI	c.2014+8T>C	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32472965A>G	(Likely) benign	1 lab	b02f222397
11:67256942 AIP G>A	11	67256942	67256942	G	A	AIP	c.468+16G>A	NM_003977.2	NP_003968.2:p.?	NC_000011.9:g.67256942G>A	(Likely) benign	1 lab	b02feb9735
1:235969790 LYST A>G	1	235969790	235969790	A	G	LYST	c.2646T>C	NM_000081.3	NP_000072.2:p.(Tyr882=)	NC_000001.10:g.235969790A>G	(Likely) benign	1 lab	b04330978f
17:48148329 ITGA3 A>G	17	48148329	48148329	A	G	ITGA3	c.751+35A>G	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48148329A>G	(Likely) benign	1 lab	b0329bb050
7:131191055 PODXL G>A	7	131191055	131191055	G	A	PODXL	c.1179C>T	NM_005397.4	NP_005388.2:p.(Tyr393=)	NC_000007.13:g.131191055G>A	(Likely) benign	1 lab	b033e50caa
19:33353479 SLC7A9 T>C	19	33353479	33353479	T	C	SLC7A9	c.492A>G	NM_014270.5	NP_055085.1:p.(Thr164=)	NC_000019.9:g.33353479T>C	(Likely) benign	1 lab	b03744bc04
2:179441984 TTN A>G	2	179441984	179441984	A	G	TTN	c.69078T>C	NM_001267550.1	NP_001254479.1:p.(Phe23026=)	NC_000002.11:g.179441984A>G	(Likely) benign	1 lab	b0381a4580
X:153595901 FLNA G>A	X	153595901	153595901	G	A	FLNA	c.732C>T	NM_001110556.2	NP_001104026.1:p.(Pro244=)	NC_000023.10:g.153595901G>A	(Likely) benign	1 lab	b0381b6343
11:103006653 DYNC2H1 G>A	11	103006653	103006653	G	A	DYNC2H1	c.2550G>A	NM_001080463.2	NP_001073932.1:p.(Leu850=)	NC_000011.9:g.103006653G>A	(Likely) benign	1 lab	b03967562f
19:50165494 IRF3 G>C	19	50165494	50165494	G	C	IRF3	c.693C>G	NM_001571.6	NP_001562.1:p.(Ser231=)	NC_000019.9:g.50165494G>C	(Likely) benign	1 lab	b03fee737a
2:149519387 EPC2 TTG>T	2	149519387	149519389	TTG	T	EPC2	c.704_705del	NM_015630.4	NP_056445.3:p.(Leu235Ter)	NC_000002.11:g.149519388_149519389del	VUS	1 lab	b040823f14
22:51158835 SHANK3 C>T	22	51158835	51158835	C	T	SHANK3	c.2799C>T	NM_001372044.1	NP_001358973.1:p.(Gly933=)	NC_000022.10:g.51158835C>T	(Likely) benign	1 lab	b04bb4a228
1:118441716 GDAP2 T>C	1	118441716	118441716	T	C	GDAP2	c.759A>G	NM_017686.4	NP_060156.1:p.(Arg253=)	NC_000001.10:g.118441716T>C	(Likely) benign	1 lab	b04fc6f71e
10:92675592 ANKRD1 C>T	10	92675592	92675592	C	T	ANKRD1	c.697G>A	NM_014391.2	NP_055206.2:p.(Glu233Lys)	NC_000010.10:g.92675592C>T	VUS	1 lab	b051c46caa
8:2021558 MYOM2 C>T	8	2021558	2021558	C	T	MYOM2	c.1098C>T	NM_003970.4	NP_003961.3:p.(His366=)	NC_000008.10:g.2021558C>T	(Likely) benign	1 lab	b0527598a3
14:45513004 TOGARAM1 T>C	14	45513004	45513004	T	C	TOGARAM1	c.3918+10T>C	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45513004T>C	(Likely) benign	1 lab	b057303a6c
14:67648081 GPHN C>T	14	67648081	67648081	C	T	GPHN	c.*427C>T	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67648081C>T	(Likely) benign	1 lab	b05c6859d9
19:36342593 NPHS1 G>T	19	36342593	36342593	G	T	NPHS1	c.59-19C>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36342593G>T	(Likely) benign	1 lab	b05d164b26
20:44673792 SLC12A5 G>A	20	44673792	44673792	G	A	SLC12A5	c.1569+13G>A	NM_020708.5	NP_065759.1:p.?	NC_000020.10:g.44673792G>A	(Likely) benign	1 lab	b05deacfd5
17:48154461 ITGA3 C>T	17	48154461	48154461	C	T	ITGA3	c.2046C>T	NM_002204.4	NP_002195.1:p.(Ala682=)	NC_000017.10:g.48154461C>T	(Likely) benign	1 lab	b05efade5c
22:26164819 MYO18B A>G	22	26164819	26164819	A	G	MYO18B	c.936A>G	NM_032608.7	NP_115997.5:p.(Gln312=)	NC_000022.10:g.26164819A>G	(Likely) benign	1 lab	b05f16dd21
17:61561197 ACE C>G	17	61561197	61561197	C	G	ACE	c.1587-13C>G	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61561197C>G	(Likely) benign	1 lab	b06404f435
11:2411653 CD81 C>A	11	2411653	2411653	C	A	CD81	c.78C>A	NM_004356.3	NP_004347.1:p.(Gly26=)	NC_000011.9:g.2411653C>A	(Likely) benign	1 lab	b066e6fbbf
9:139325583 INPP5E G>A	9	139325583	139325583	G	A	INPP5E	c.1550-14C>T	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139325583G>A	(Likely) benign	1 lab	b06971a917
11:117859209 IL10RA G>A	11	117859209	117859209	G	A	IL10RA	c.180G>A	NM_001558.3	NP_001549.2:p.(Ala60=)	NC_000011.9:g.117859209G>A	(Likely) benign	1 lab	b06b90097d
15:90191867 KIF7 C>T	15	90191867	90191867	C	T	KIF7	c.1062G>A	NM_198525.3	NP_940927.2:p.(Thr354=)	NC_000015.9:g.90191867C>T	(Likely) benign	1 lab	b06f4e84a1
8:62577852 ASPH A>C	8	62577852	62577852	A	C	ASPH	c.636T>G	NM_020164.5	NP_064549.1:p.(Tyr212Ter)	NC_000008.10:g.62577852A>C	VUS	1 lab	d5cfca492c
1:43895383 SZT2 C>T	1	43895383	43895383	C	T	SZT2	c.4005C>T	NM_015284.4	NP_056099.3:p.(Thr1335=)	NC_000001.10:g.43895383C>T	(Likely) benign	1 lab	b079f5f05c
2:202588160 ALS2 C>T	2	202588160	202588160	C	T	ALS2	c.3517G>A	NM_020919.4	NP_065970.2:p.(Glu1173Lys)	NC_000002.11:g.202588160C>T	(Likely) benign	1 lab	b07bb5e9bb
17:3844321 ATP2A3 C>T	17	3844321	3844321	C	T	ATP2A3	c.2044G>A	NM_174953.3	NP_777613.1:p.(Ala682Thr)	NC_000017.10:g.3844321C>T	(Likely) benign	1 lab	b07c320f7e
7:108154659 PNPLA8 A>C	7	108154659	108154659	A	C	PNPLA8	c.1135T>G	NM_015723.5	NP_056538.1:p.(Cys379Gly)	NC_000007.13:g.108154659A>C	(Likely) benign	1 lab	b080514ba3
3:38628998 SCN5A A>T	3	38628998	38628998	A	T	SCN5A	c.2329T>A	NM_198056.3	NP_932173.1:p.(Phe777Ile)	NC_000003.11:g.38628998A>T	VUS	1 lab	d5d316faf9
7:116423407 MET G>A	7	116423407	116423407	G	A	MET	c.3736G>A	NM_001127500.1	NP_001120972.1:p.(Asp1246Asn)	NC_000007.13:g.116423407G>A	(Likely) pathogenic	1 lab	b0882697e5
19:18193070 IL12RB1 C>T	19	18193070	18193070	C	T	IL12RB1	c.129G>A	NM_005535.1	NP_005526.1:p.(Ser43=)	NC_000019.9:g.18193070C>T	(Likely) benign	1 lab	b08bf05ca0
1:226128759 LEFTY2 G>A	1	226128759	226128759	G	A	LEFTY2	c.82C>T	NM_003240.5	NP_003231.2:p.(Leu28=)	NC_000001.10:g.226128759G>A	(Likely) benign	1 lab	b0933c8e68
3:64526862 ADAMTS9 G>T	3	64526862	64526862	G	T	ADAMTS9	c.5430C>A	NM_182920.2	NP_891550.1:p.(Arg1810=)	NC_000003.11:g.64526862G>T	(Likely) benign	1 lab	b098ad34e7
4:79258775 FRAS1 G>A	4	79258775	79258775	G	A	FRAS1	c.2279-53G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79258775G>A	(Likely) benign	1 lab	b4f68638cc
8:145007499 PLEC T>C	8	145007499	145007499	T	C	PLEC	c.1695A>G	NM_201380.4	NP_958782.1:p.(Ala565=)	NC_000008.10:g.145007499T>C	(Likely) benign	1 lab	b0a27546b1
2:166903423 SCN1A A>G	2	166903423	166903423	A	G	SCN1A	c.1234T>C	NM_001165963.3	NP_001159435.1:p.(Phe412Leu)	NC_000002.11:g.166903423A>G	(Likely) pathogenic	1 lab	b0a3e152ee
17:26851894 FOXN1 C>T	17	26851894	26851894	C	T	FOXN1	c.497C>T	NM_003593.2	NP_003584.2:p.(Ala166Val)	NC_000017.10:g.26851894C>T	(Likely) benign	1 lab	b0a7b77256
4:151835504 LRBA A>G	4	151835504	151835504	A	G	LRBA	c.1015-11T>C	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151835504A>G	(Likely) benign	1 lab	b0b07c9f30
9:137658307 COL5A1 C>T	9	137658307	137658307	C	T	COL5A1	c.2096C>T	NM_000093.4	NP_000084.3:p.(Thr699Met)	NC_000009.11:g.137658307C>T	(Likely) benign	1 lab	b0b0dcb7d7
7:154429580 DPP6 A>G	7	154429580	154429580	A	G	DPP6	c.677A>G	NM_130797.4	NP_570629.2:p.(His226Arg)	NC_000007.13:g.154429580A>G	VUS	1 lab	b0b2436266
9:130578347 ENG C>T	9	130578347	130578347	C	T	ENG	c.1742-15G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130578347C>T	VUS	1 lab	b0b4bf635c
22:32218545 DEPDC5 G>T	22	32218545	32218545	G	T	DEPDC5	c.2007-134G>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32218545G>T	(Likely) benign	1 lab	b0b65d5573
2:179441092 TTN G>C	2	179441092	179441092	G	C	TTN	c.69767C>G	NM_001267550.1	NP_001254479.1:p.(Ser23256Cys)	NC_000002.11:g.179441092G>C	VUS	1 lab	b0b9a98bbc
1:179544588 NPHS2 C>T	1	179544588	179544588	C	T	NPHS2	c.274+138G>A	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179544588C>T	(Likely) benign	1 lab	b0c251e828
21:34697410 IFNAR1 C>T	21	34697410	34697410	C	T	IFNAR1	c.50C>T	NM_000629.3	NP_000620.2:p.(Ala17Val)	NC_000021.8:g.34697410C>T	(Likely) benign	1 lab	b0c4ca1ab5
6:39869585 DAAM2 G>A	6	39869585	39869585	G	A	DAAM2	c.2983-4G>A	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39869585G>A	(Likely) benign	1 lab	b0ca7e96c3
1:5934887 NPHP4 C>T	1	5934887	5934887	C	T	NPHP4	c.3044+47G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5934887C>T	(Likely) benign	1 lab	b4f7cb8c91
13:73505348 PIBF1 G>A	13	73505348	73505348	G	A	PIBF1	c.1776G>A	NM_006346.3	NP_006337.2:p.(Ser592=)	NC_000013.10:g.73505348G>A	(Likely) benign	1 lab	b0cb1f3af2
8:94794672 TMEM67 C>A	8	94794672	94794672	C	A	TMEM67	c.1115C>A	NM_153704.5	NP_714915.3:p.(Thr372Lys)	NC_000008.10:g.94794672C>A	(Likely) pathogenic	1 lab	b0cb7c693b
1:237924334 RYR2 A>G	1	237924334	237924334	A	G	RYR2	c.11476+6A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237924334A>G	(Likely) benign	1 lab	b0cc2275c1
7:45115412 CCM2 A>G	7	45115412	45115412	A	G	CCM2	c.1154A>G	NM_001029835.2	NP_001025006.1:p.(His385Arg)	NC_000007.13:g.45115412A>G	(Likely) benign	1 lab	b0da27cb77
6:145956319 EPM2A C>T	6	145956319	145956319	C	T	EPM2A	c.718+62G>A	NM_001018041.2	NP_001018051.1:p.?	NC_000006.11:g.145956319C>T	(Likely) benign	1 lab	b0da557cbe
15:77322761 PSTPIP1 G>A	15	77322761	77322761	G	A	PSTPIP1	c.563-82G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77322761G>A	(Likely) benign	1 lab	b0dcfb2ce9
19:42383043 CD79A A>C	19	42383043	42383043	A	C	CD79A	c.80-17A>C	NM_001783.3	NP_001774.1:p.?	NC_000019.9:g.42383043A>C	(Likely) benign	1 lab	b0e3720d51
9:131360553 SPTAN1 CTT>C	9	131360553	131360565	CTT	C	SPTAN1	c.3415-115_3415-114del	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131360564_131360565del	(Likely) benign	1 lab	b0e376b02f
6:129498947 LAMA2 C>G	6	129498947	129498947	C	G	LAMA2	c.1403C>G	NM_000426.3	NP_000417.2:p.(Ala468Gly)	NC_000006.11:g.129498947C>G	(Likely) benign	1 lab	b0e576e224
18:47489319 MYO5B C>T	18	47489319	47489319	C	T	MYO5B	c.1404G>A	NM_001080467.3	NP_001073936.1:p.(Ser468=)	NC_000018.9:g.47489319C>T	VUS	1 lab	b0e5776193
19:11287338 KANK2 C>A	19	11287338	11287338	C	A	KANK2	c.1676G>T	NM_001136191.2	NP_001129663.1:p.(Arg559Leu)	NC_000019.9:g.11287338C>A	(Likely) benign	1 lab	b0e6518c4e
5:127624780 FBN2 T>C	5	127624780	127624780	T	C	FBN2	c.6637+39A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624780T>C	(Likely) benign	1 lab	b1028ff7a2
3:48508354 TREX1 T>C	3	48508354	48508354	T	C	TREX1	c.300T>C	NM_033629.6	NP_338599.1:p.(Phe100=)	NC_000003.11:g.48508354T>C	(Likely) benign	1 lab	b0e8eb59a7
11:108128329 ATM C>A	11	108128329	108128329	C	A	ATM	c.2372C>A	NM_000051.3	NP_000042.3:p.(Thr791Asn)	NC_000011.9:g.108128329C>A	(Likely) benign	1 lab	b0ec58e3a8
11:103187327 DYNC2H1 C>T	11	103187327	103187327	C	T	DYNC2H1	c.11724C>T	NM_001080463.2	NP_001073932.1:p.(Asn3908=)	NC_000011.9:g.103187327C>T	(Likely) benign	1 lab	b0ef1379ff
8:27320636 CHRNA2 G>A	8	27320636	27320636	G	A	CHRNA2	c.1324C>T	NM_000742.4	NP_000733.2:p.(Leu442=)	NC_000008.10:g.27320636G>A	(Likely) benign	1 lab	b0f055162f
9:77377766 TRPM6 T>C	9	77377766	77377766	T	C	TRPM6	c.3821A>G	NM_017662.5	NP_060132.3:p.(Gln1274Arg)	NC_000009.11:g.77377766T>C	(Likely) benign	1 lab	b0f2e47735
3:195798320 TFRC G>C	3	195798320	195798320	G	C	TFRC	c.634C>G	NM_003234.4	NP_003225.2:p.(Leu212Val)	NC_000003.11:g.195798320G>C	(Likely) benign	1 lab	b0f93d71a2
5:90368142 ADGRV1 A>T	5	90368142	90368142	A	T	ADGRV1	c.18153-122A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90368142A>T	(Likely) benign	1 lab	b0fa84184e
8:68396936 CPA6 C>A	8	68396936	68396936	C	A	CPA6	c.725G>T	NM_020361.5	NP_065094.3:p.(Gly242Val)	NC_000008.10:g.68396936C>A	(Likely) benign	1 lab	b0fc62644f
6:395864 IRF4 C>G	6	395864	395864	C	G	IRF4	c.421C>G	NM_002460.4	NP_002451.2:p.(Leu141Val)	NC_000006.11:g.395864C>G	(Likely) benign	1 lab	b107c0f27b
1:218578521 TGFB2 G>A	1	218578521	218578521	G	A	TGFB2	c.357G>A	NM_003238.4	NP_003229.1:p.(Pro119=)	NC_000001.10:g.218578521G>A	(Likely) benign	1 lab	b10df5a325
11:68181248 LRP5 G>T	11	68181248	68181248	G	T	LRP5	c.2595G>T	NM_002335.4	NP_002326.2:p.(Leu865=)	NC_000011.9:g.68181248G>T	(Likely) benign	1 lab	b10f6c2bd3
11:66454652 SPTBN2 G>A	11	66454652	66454652	G	A	SPTBN2	c.6723-14C>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66454652G>A	(Likely) benign	1 lab	b116067198
6:112476121 LAMA4 A>G	6	112476121	112476121	A	G	LAMA4				NC_000006.11:g.112476121A>G	(Likely) benign	1 lab	b117489277
15:66727431 MAP2K1 C>A	15	66727431	66727431	C	A	MAP2K1	c.147C>A	NM_002755.3	NP_002746.1:p.(Arg49=)	NC_000015.9:g.66727431C>A	(Likely) benign	1 lab	b11d83509c
22:32188297 DEPDC5 T>C	22	32188297	32188297	T	C	DEPDC5	c.694+209T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188297T>C	(Likely) benign	1 lab	b1215d7c16
20:62073782 KCNQ2 C>T	20	62073782	62073782	C	T	KCNQ2	c.793G>A	NM_172107.4	NP_742105.1:p.(Ala265Thr)	NC_000020.10:g.62073782C>T	(Likely) pathogenic	1 lab	b126425bf9
11:6652264 DCHS1 G>A	11	6652264	6652264	G	A	DCHS1	c.3930+20C>T	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6652264G>A	(Likely) benign	1 lab	b1311b7119
15:77320177 PSTPIP1 C>G	15	77320177	77320177	C	G	PSTPIP1	c.355-16C>G	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77320177C>G	(Likely) benign	1 lab	b1328b5f80
19:36342568 NPHS1 G>A	19	36342568	36342568	G	A	NPHS1	c.65C>T	NM_004646.3	NP_004637.1:p.(Ala22Val)	NC_000019.9:g.36342568G>A	(Likely) benign	1 lab	b133b81f69
4:110685721 CFI C>T	4	110685721	110685721	C	T	CFI	c.454G>A	NM_000204.3	NP_000195.2:p.(Val152Met)	NC_000004.11:g.110685721C>T	(Likely) pathogenic	1 lab	b139d063f6
10:68147943 CTNNA3 Ref too long to show for this DEL>G	10	68147943	68377874	Ref too long to show for this DEL	G	CTNNA3	c.1374+3577_1532-8834del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68147945_68377874del	VUS	1 lab	d5e0f80d3a
19:59061099 TRIM28 C>T	19	59061099	59061099	C	T	TRIM28	c.1983-5C>T	NM_005762.3	NP_005753.1:p.?	NC_000019.9:g.59061099C>T	(Likely) benign	1 lab	b13b85f6c9
2:227979395 COL4A4 C>G	2	227979395	227979395	C	G	COL4A4	c.507G>C	NM_000092.4	NP_000083.3:p.(Lys169Asn)	NC_000002.11:g.227979395C>G	(Likely) benign	1 lab	b13e66b977
4:187524923 FAT1 A>G	4	187524923	187524923	A	G	FAT1	c.10757T>C	NM_005245.4	NP_005236.2:p.(Met3586Thr)	NC_000004.11:g.187524923A>G	(Likely) benign	1 lab	b13f8d382e
1:198701459 PTPRC A>T	1	198701459	198701459	A	T	PTPRC	c.2005A>T	NM_002838.5	NP_002829.3:p.(Ile669Leu)	NC_000001.10:g.198701459A>T	(Likely) benign	1 lab	b14900b750
5:125911102 ALDH7A1 A>G	5	125911102	125911102	A	G	ALDH7A1	c.695+10T>C	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125911102A>G	(Likely) benign	1 lab	b149d0922b
11:71155134 DHCR7 C>T	11	71155134	71155134	C	T	DHCR7	c.226G>A	NM_001360.2	NP_001351.2:p.(Val76Ile)	NC_000011.9:g.71155134C>T	(Likely) benign	1 lab	b14f0cd539
2:31596756 XDH C>T	2	31596756	31596756	C	T	XDH	c.1669G>A	NM_000379.4	NP_000370.2:p.(Asp557Asn)	NC_000002.11:g.31596756C>T	(Likely) benign	1 lab	b14f47e4c3
17:41256807 BRCA1 A>G	17	41256807	41256807	A	G	BRCA1	c.301+78T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256807A>G	(Likely) benign	1 lab	b14fb6bc46
9:129458309 LMX1B G>A	9	129458309	129458309	G	A	LMX1B	c.1063+48G>A	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129458309G>A	(Likely) benign	1 lab	b150066780
10:21120483 NEBL T>A	10	21120483	21120483	T	A	NEBL	c.1479A>T	NM_006393.2	NP_006384.1:p.(Glu493Asp)	NC_000010.10:g.21120483T>A	VUS	1 lab	b1507eb1a6
17:73832419 UNC13D C>T	17	73832419	73832419	C	T	UNC13D	c.1389+1G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73832419C>T	(Likely) pathogenic	1 lab	b15216cd5c
11:61541458 MYRF G>A	11	61541458	61541458	G	A	MYRF	c.1135G>A	NM_001127392.3	NP_001120864.1:p.(Val379Met)	NC_000011.9:g.61541458G>A	VUS	1 lab	d5e4282cfd
1:196953166 CFHR5 T>C	1	196953166	196953166	T	C	CFHR5	c.329T>C	NM_030787.3	NP_110414.1:p.(Val110Ala)	NC_000001.10:g.196953166T>C	(Likely) benign	1 lab	b15b99af77
4:20255507 SLIT2 G>A	4	20255507	20255507	G	A	SLIT2	c.69G>A	NM_004787.4	NP_004778.1:p.(Val23=)	NC_000004.11:g.20255507G>A	(Likely) benign	1 lab	b15fb87fe9
16:9984759 GRIN2A C>T	16	9984759	9984759	C	T	GRIN2A	c.1122+84G>A	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9984759C>T	(Likely) benign	1 lab	b1617c93a1
3:39230667 XIRP1 G>A	3	39230667	39230667	G	A	XIRP1	c.270C>T	NM_194293.4	NP_919269.2:p.(Asp90=)	NC_000003.11:g.39230667G>A	(Likely) benign	1 lab	b167d2a417
6:47501570 CD2AP T>C	6	47501570	47501570	T	C	CD2AP	c.319+79T>C	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47501570T>C	(Likely) benign	1 lab	b170fcdf7b
16:1269971 CACNA1H G>A	16	1269971	1269971	G	A	CACNA1H	c.6049-10G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1269971G>A	(Likely) benign	1 lab	b172516107
15:72040776 THSD4 G>A	15	72040776	72040776	G	A	THSD4	c.1178G>A	NM_001286429.2	NP_001273358.1:p.(Gly393Asp)	NC_000015.9:g.72040776G>A	(Likely) benign	1 lab	b17754fded
9:126133533 CRB2 G>A	9	126133533	126133533	G	A	CRB2	c.2112G>A	NM_173689.7	NP_775960.4:p.(Arg704=)	NC_000009.11:g.126133533G>A	(Likely) benign	1 lab	b179613e82
X:18963213 PHKA2 A>G	X	18963213	18963213	A	G	PHKA2	c.601T>C	NM_000292.3	NP_000283.1:p.(Ser201Pro)	NC_000023.10:g.18963213A>G	(Likely) pathogenic	1 lab	b17c561d87
12:117014008 MAP1LC3B2 C>T	12	117014008	117014008	C	T	MAP1LC3B2	c.261C>T	NM_001085481.3	NP_001078950.1:p.(Ser87=)	NC_000012.11:g.117014008C>T	(Likely) benign	1 lab	b17cbd99d6
22:41310234 XPNPEP3 T>C	22	41310234	41310234	T	C	XPNPEP3	c.970-9T>C	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41310234T>C	(Likely) benign	1 lab	b17cbdfac1
3:38645453 SCN5A T>G	3	38645453	38645453	T	G	SCN5A	c.1640A>C	NM_198056.2	NP_932173.1:p.(Glu547Ala)	NC_000003.11:g.38645453T>G	VUS	1 lab	b17f10e7b0
3:53218872 PRKCD G>A	3	53218872	53218872	G	A	PRKCD	c.788-18G>A	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53218872G>A	(Likely) benign	1 lab	b1801c9b23
20:62045452 KCNQ2 G>C	20	62045452	62045452	G	C	KCNQ2	c.1620C>G	NM_172107.4	NP_742105.1:p.(Ile540Met)	NC_000020.10:g.62045452G>C	VUS	1 lab	b182707b26
20:62316863 RTEL1 C>T	20	62316863	62316863	C	T	RTEL1	c.523-13C>T	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62316863C>T	(Likely) benign	1 lab	b182973348
5:41150122 C6 G>A	5	41150122	41150122	G	A	C6	c.2296C>T	NM_000065.2	NP_000056.2:p.(Leu766=)	NC_000005.9:g.41150122G>A	(Likely) benign	1 lab	b18a3b0c15
X:54473857 FGD1 C>T	X	54473857	54473857	C	T	FGD1	c.2467G>A	NM_004463.3	NP_004454.2:p.(Val823Ile)	NC_000023.10:g.54473857C>T	(Likely) benign	1 lab	b18a4ae174
6:152453353 SYNE1 T>C	6	152453353	152453353	T	C	SYNE1	c.26002-4A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152453353T>C	(Likely) benign	1 lab	b18bd8b772
22:36681384 MYH9 GA>G	22	36681384	36681386	GA	G	MYH9	c.5275-10del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36681386del	(Likely) benign	1 lab	b18c7e2313
9:111659582 ELP1 A>G	9	111659582	111659582	A	G	ELP1	c.2364-17T>C	NM_003640.3	NP_003631.2:p.?	NC_000009.11:g.111659582A>G	(Likely) benign	1 lab	b18f8759d5
17:41226193 BRCA1 C>T	17	41226193	41226193	C	T	BRCA1	c.4675+155G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226193C>T	(Likely) benign	1 lab	b192cac19a
2:152402848 NEB T>C	2	152402848	152402848	T	C	NEB	c.20466+11A>G	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152402848T>C	(Likely) benign	1 lab	b193c48c8a
14:91749682 CCDC88C G>A	14	91749682	91749682	G	A	CCDC88C	c.4621C>T	NM_001080414.4	NP_001073883.2:p.(Arg1541Cys)	NC_000014.8:g.91749682G>A	(Likely) benign	1 lab	b194b9a955
6:132190541 ENPP1 A>G	6	132190541	132190541	A	G	ENPP1	c.1317A>G	NM_006208.3	NP_006199.2:p.(Lys439=)	NC_000006.11:g.132190541A>G	(Likely) benign	1 lab	b1954101a2
4:79458183 FRAS1 A>G	4	79458183	79458183	A	G	FRAS1	c.11127A>G	NM_025074.7	NP_079350.5:p.(Pro3709=)	NC_000004.11:g.79458183A>G	(Likely) benign	1 lab	b19fb4af19
9:131353641 SPTAN1 G>A	9	131353641	131353641	G	A	SPTAN1	c.3007-115G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131353641G>A	(Likely) benign	1 lab	b1a0986a5c
9:135797251 TSC1 A>G	9	135797251	135797251	A	G	TSC1	c.618T>C	NM_000368.4	NP_000359.1:p.(His206=)	NC_000009.11:g.135797251A>G	(Likely) benign	1 lab	b1a0b4cbb5
19:45912070 ERCC1 A>G	19	45912070	45912070	A	G	ERCC1	c.*863T>C	NM_001983.4	NP_001974.1:p.?	NC_000019.9:g.45912070A>G	(Likely) benign	1 lab	b1a10f3499
17:78079310 GAA T>C	17	78079310	78079310	T	C	GAA	c.547-238T>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079310T>C	(Likely) benign	1 lab	b1a27c3622
18:28648987 DSC2 G>A	18	28648987	28648987	G	A	DSC2				NC_000018.9:g.28648987G>A	(Likely) benign	1 lab	b1a2a8bead
3:39227052 XIRP1 G>A	3	39227052	39227052	G	A	XIRP1	c.3885C>T	NM_194293.4	NP_919269.2:p.(His1295=)	NC_000003.11:g.39227052G>A	(Likely) benign	1 lab	b1a9018130
17:505139 VPS53 G>A	17	505139	505139	G	A	VPS53	c.1117-3C>T	NM_001128159.3	NP_001121631.1:p.?	NC_000017.10:g.505139G>A	(Likely) benign	1 lab	d5ed4cfe03
5:55204223 IL31RA A>G	5	55204223	55204223	A	G	IL31RA	c.1485A>G	NM_139017.6	NP_620586.3:p.(Glu495=)	NC_000005.9:g.55204223A>G	(Likely) benign	1 lab	b1aa8bc178
1:16360090 CLCNKA C>T	1	16360090	16360090	C	T	CLCNKA	c.2017-16C>T	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16360090C>T	(Likely) benign	1 lab	b1ae05f03f
11:46893155 LRP4 C>T	11	46893155	46893155	C	T	LRP4	c.4613G>A	NM_002334.3	NP_002325.2:p.(Arg1538Gln)	NC_000011.9:g.46893155C>T	(Likely) benign	1 lab	b1af23afa2
4:79387278 FRAS1 C>A	4	79387278	79387278	C	A	FRAS1	c.7030-84C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79387278C>A	(Likely) benign	1 lab	b1b039e03b
12:109535608 UNG G>C	12	109535608	109535608	G	C	UNG				NC_000012.11:g.109535608G>C	(Likely) benign	1 lab	b1b784a305
1:181701504 CACNA1E C>T	1	181701504	181701504	C	T	CACNA1E	c.2298-16C>T	NM_000721.4	NP_000712.2:p.?	NC_000001.10:g.181701504C>T	(Likely) benign	1 lab	b1b975b970
10:43609136 RET C>T	10	43609136	43609136	C	T	RET	c.1879+13C>T	NM_020975.4	NP_066124.1:p.?	NC_000010.10:g.43609136C>T	(Likely) benign	1 lab	b1bb8e803b
1:198675877 PTPRC A>G	1	198675877	198675877	A	G	PTPRC	c.700A>G	NM_002838.5	NP_002829.3:p.(Asn234Asp)	NC_000001.10:g.198675877A>G	VUS	1 lab	d5ef9b1779
19:54327313 NLRP12 C>A	19	54327313	54327313	C	A	NLRP12	c.116G>T	NM_144687.4	NP_653288.1:p.(Gly39Val)	NC_000019.9:g.54327313C>A	(Likely) benign	1 lab	b1c07dcd43
19:34263196 CHST8 G>C	19	34263196	34263196	G	C	CHST8	c.503G>C	NM_022467.3	NP_071912.2:p.(Arg168Pro)	NC_000019.9:g.34263196G>C	VUS	1 lab	d5efac3ff6
12:52307459 ACVRL1 C>T	12	52307459	52307459	C	T	ACVRL1	c.430C>T	NM_000020.2	NP_000011.2:p.(Arg144Ter)	NC_000012.11:g.52307459C>T	(Likely) pathogenic	1 lab	b1c976436e
X:13770844 OFD1 C>T	X	13770844	13770844	C	T	OFD1	c.1056-643C>T	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13770844C>T	(Likely) benign	1 lab	b1cd7eacb5
X:100614336 BTK C>T	X	100614336	100614336	C	T	BTK	c.840-1G>A	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100614336C>T	(Likely) pathogenic	1 lab	b1d0163f17
1:218607297 TGFB2 C>A	1	218607297	218607297	C	A	TGFB2	c.595-127C>A	NM_001135599.3	NP_001129071.1:p.?	NC_000001.10:g.218607297C>A	(Likely) benign	1 lab	b1d252adb8
16:81891928 PLCG2 C>T	16	81891928	81891928	C	T	PLCG2	c.398C>T	NM_002661.3	NP_002652.2:p.(Ala133Val)	NC_000016.9:g.81891928C>T	(Likely) benign	1 lab	b1d5f9ac98
12:13761898 GRIN2B G>A	12	13761898	13761898	G	A	GRIN2B	c.1781-132C>T	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13761898G>A	(Likely) benign	1 lab	b1d628ab5f
19:54385927 PRKCG A>T	19	54385927	54385927	A	T	PRKCG	c.170+9A>T	NM_002739.3	NP_002730.1:p.?	NC_000019.9:g.54385927A>T	(Likely) benign	1 lab	b1e10700de
4:187005118 TLR3 A>G	4	187005118	187005118	A	G	TLR3	c.2278A>G	NM_003265.2	NP_003256.1:p.(Ile760Val)	NC_000004.11:g.187005118A>G	(Likely) benign	1 lab	b1e23ab344
5:158747383 IL12B C>T	5	158747383	158747383	C	T	IL12B	c.628G>A	NM_002187.2	NP_002178.2:p.(Val210Ile)	NC_000005.9:g.158747383C>T	(Likely) benign	1 lab	b1e246dcb8
15:26866497 GABRB3 C>A	15	26866497	26866497	C	A	GABRB3	c.425G>T	NM_000814.6	NP_000805.1:p.(Arg142Leu)	NC_000015.9:g.26866497C>A	(Likely) pathogenic	1 lab	b1e2aab20c
22:32162490 DEPDC5 T>C	22	32162490	32162490	T	C	DEPDC5	c.280-81T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32162490T>C	(Likely) benign	1 lab	b1e3ed9168
2:32476500 NLRC4 G>A	2	32476500	32476500	G	A	NLRC4	c.433C>T	NM_021209.4	NP_067032.3:p.(His145Tyr)	NC_000002.11:g.32476500G>A	(Likely) benign	1 lab	b1e5b415f3
16:3706983 DNASE1 C>T	16	3706983	3706983	C	T	DNASE1	c.437-17C>T	NM_005223.3	NP_005214.2:p.?	NC_000016.9:g.3706983C>T	(Likely) benign	1 lab	b58bf78b92
13:52531736 ATP7B G>A	13	52531736	52531736	G	A	ATP7B	c.2363C>T	NM_000053.4	NP_000044.2:p.(Thr788Ile)	NC_000013.10:g.52531736G>A	(Likely) pathogenic	1 lab	b1ee4a099e
2:179536921 TTN T>C	2	179536921	179536921	T	C	TTN	c.35004A>G	NM_001267550.1	NP_001254479.1:p.(Leu11668=)	NC_000002.11:g.179536921T>C	(Likely) benign	1 lab	b1ef1aebfa
16:1255083 CACNA1H C>T	16	1255083	1255083	C	T	CACNA1H	c.2452-31C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1255083C>T	(Likely) benign	1 lab	b1f67b4f37
2:166911263 SCN1A C>T	2	166911263	166911263	C	T	SCN1A	c.487G>A	NM_001165963.3	NP_001159435.1:p.(Gly163Arg)	NC_000002.11:g.166911263C>T	(Likely) pathogenic	1 lab	b1faafd582
16:4387209 GLIS2 C>T	16	4387209	4387209	C	T	GLIS2	c.1259C>T	NM_032575.2	NP_115964.2:p.(Pro420Leu)	NC_000016.9:g.4387209C>T	(Likely) benign	1 lab	b1fce1e6fb
12:110012698 MVK A>AT	12	110012698	110012699	A	AT	MVK	c.72dup	NM_000431.2	NP_000422.1:p.(Gly25TrpfsTer55)	NC_000012.11:g.110012699dup	(Likely) pathogenic	1 lab	b1fd48bc7e
18:29126217 DSG2 C>T	18	29126217	29126217	C	T	DSG2	c.2868C>T	NM_001943.3	NP_001934.2:p.(Ser956=)	NC_000018.9:g.29126217C>T	(Likely) benign	1 lab	b1ff159659
2:179478526 TTN T>C	2	179478526	179478526	T	C	TTN	c.49484A>G	NM_001267550.1	NP_001254479.1:p.(Asp16495Gly)	NC_000002.11:g.179478526T>C	VUS	1 lab	b1ff25fe7e
4:83349418 HNRNPDL A>T	4	83349418	83349418	A	T	HNRNPDL	c.612+13T>A	NM_031372.3	NP_112740.1:p.?	NC_000004.11:g.83349418A>T	(Likely) benign	1 lab	b201500bc2
21:34922544 SON C>T	21	34922544	34922544	C	T	SON	c.1007C>T	NM_138927.2	NP_620305.2:p.(Ala336Val)	NC_000021.8:g.34922544C>T	(Likely) benign	1 lab	b209d05458
20:8702806 PLCB1 A>AG	20	8702806	8702808	A	AG	PLCB1	c.1514-193dup	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8702808dup	(Likely) benign	1 lab	b209dff59d
1:29342271 EPB41 C>T	1	29342271	29342271	C	T	EPB41	c.897C>T	NM_001376013.1	NP_001362942.1:p.(Asp299=)	NC_000001.10:g.29342271C>T	(Likely) benign	1 lab	b20b2fb9dd
10:95791467 PLCE1 G>C	10	95791467	95791467	G	C	PLCE1	c.664G>C	NM_016341.3	NP_057425.3:p.(Gly222Arg)	NC_000010.10:g.95791467G>C	(Likely) benign	1 lab	b22e3f3245
4:187628419 FAT1 C>T	4	187628419	187628419	C	T	FAT1	c.2563G>A	NM_005245.4	NP_005236.2:p.(Gly855Arg)	NC_000004.11:g.187628419C>T	(Likely) benign	1 lab	b20b940800
9:14857744 FREM1 A>C	9	14857744	14857744	A	C	FREM1	c.635T>G	NM_144966.5	NP_659403.4:p.(Leu212Arg)	NC_000009.11:g.14857744A>C	(Likely) benign	1 lab	b210a8bdce
9:6536180 GLDC T>G	9	6536180	6536180	T	G	GLDC	c.2722A>C	NM_000170.2	NP_000161.2:p.(Thr908Pro)	NC_000009.11:g.6536180T>G	(Likely) pathogenic	1 lab	b213aba25d
11:126162815 TIRAP G>A	11	126162815	126162815	G	A	TIRAP	c.511G>A	NM_148910.2	NP_683708.1:p.(Ala171Thr)	NC_000011.9:g.126162815G>A	(Likely) benign	1 lab	b21a925c37
3:184040490 EIF4G1 C>T	3	184040490	184040490	C	T	EIF4G1	c.1767C>T	NM_182917.4	NP_886553.3:p.(Pro589=)	NC_000003.11:g.184040490C>T	(Likely) benign	1 lab	d5f0ef241c
6:56358856 DST G>A	6	56358856	56358856	G	A	DST	c.20346C>T	NM_001374736.1	NP_001361665.1:p.(Asn6782=)	NC_000006.11:g.56358856G>A	(Likely) benign	1 lab	b21f514712
8:100569111 VPS13B T>TA	8	100569111	100569112	T	TA	VPS13B	c.5024+231dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100569112dup	(Likely) benign	1 lab	b22017e1e4
11:101375487 TRPC6 A>T	11	101375487	101375487	A	T	TRPC6	c.213T>A	NM_004621.6	NP_004612.2:p.(Val71=)	NC_000011.9:g.101375487A>T	(Likely) benign	1 lab	b223589114
12:110012650 MVK T>A	12	110012650	110012650	T	A	MVK	c.23T>A	NM_000431.2	NP_000422.1:p.(Val8Glu)	NC_000012.11:g.110012650T>A	VUS	1 lab	b224cdc565
4:77087449 SCARB2 G>A	4	77087449	77087449	G	A	SCARB2	c.1193C>T	NM_005506.4	NP_005497.1:p.(Thr398Met)	NC_000004.11:g.77087449G>A	(Likely) benign	1 lab	b22531ee30
6:7568831 DSP T>C	6	7568831	7568831	T	C	DSP	c.1419+9T>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7568831T>C	(Likely) benign	1 lab	b229726d54
2:228122369 COL4A3 G>A	2	228122369	228122369	G	A	COL4A3	c.1029+9G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228122369G>A	(Likely) benign	1 lab	b22a4e914f
1:65306952 JAK1 T>C	1	65306952	65306952	T	C	JAK1	c.2625A>G	NM_001321853.2	NP_001308782.1:p.(Leu875=)	NC_000001.10:g.65306952T>C	(Likely) benign	1 lab	b22d350046
18:60029031 TNFRSF11A T>C	18	60029031	60029031	T	C	TNFRSF11A				NC_000018.9:g.60029031T>C	(Likely) benign	1 lab	b2ee598e46
1:6279461 RNF207 G>A	1	6279461	6279461	G	A	RNF207	c.1899G>A	NM_207396.3	NP_997279.2:p.(Pro633=)	NC_000001.10:g.6279461G>A	(Likely) benign	1 lab	b240072d9b
13:100764183 PCCA ATTAT>A	13	100764183	100764192	ATTAT	A	PCCA	c.231+47_231+50del	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100764189_100764192del	(Likely) benign	1 lab	b24a78fc4e
1:237753211 RYR2 T>G	1	237753211	237753211	T	G	RYR2	c.3717T>G	NM_001035.3	NP_001026.2:p.(Phe1239Leu)	NC_000001.10:g.237753211T>G	VUS	1 lab	b2582401f9
17:78180637 CARD14 A>C	17	78180637	78180637	A	C	CARD14	c.2692-132A>C	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78180637A>C	(Likely) benign	1 lab	b25977bbf4
14:58727758 PSMA3 T>C	14	58727758	58727758	T	C	PSMA3	c.477+20T>C	NM_002788.4	NP_002779.1:p.?	NC_000014.8:g.58727758T>C	(Likely) benign	1 lab	b2599d05c0
7:70238882 AUTS2 A>G	7	70238882	70238882	A	G	AUTS2	c.1831-132A>G	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70238882A>G	(Likely) benign	1 lab	b25fd58d04
8:41546108 ANK1 C>T	8	41546108	41546108	C	T	ANK1	c.4105-1G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41546108C>T	(Likely) pathogenic	1 lab	b260f96319
12:66856667 GRIP1 G>A	12	66856667	66856667	G	A	GRIP1	c.1042+37C>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66856667G>A	(Likely) benign	1 lab	b2639500fe
22:40814585 MRTFA C>T	22	40814585	40814585	C	T	MRTFA	c.2157G>A	NM_001282662.3	NP_001269591.2:p.(Pro719=)	NC_000022.10:g.40814585C>T	(Likely) benign	1 lab	b264917212
11:2869182 KCNQ1 C>T	11	2869182	2869182	C	T	KCNQ1	c.1980C>T	NM_000218.2	NP_000209.2:p.(Pro660=)	NC_000011.9:g.2869182C>T	(Likely) benign	1 lab	b26ef84d37
5:89975342 ADGRV1 G>T	5	89975342	89975342	G	T	ADGRV1	c.5444-24G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975342G>T	(Likely) benign	1 lab	b2767aad86
22:32211004 DEPDC5 G>C	22	32211004	32211004	G	C	DEPDC5	c.1472G>C	NM_001242896.3	NP_001229825.1:p.(Ser491Thr)	NC_000022.10:g.32211004G>C	(Likely) benign	1 lab	b27776ae6a
1:247588464 NLRP3 G>C	1	247588464	247588464	G	C	NLRP3	c.1713G>C	NM_001243133.2	NP_001230062.1:p.(Leu571Phe)	NC_000001.10:g.247588464G>C	(Likely) pathogenic	1 lab	b2789494c4
17:40939538 WNK4 C>T	17	40939538	40939538	C	T	WNK4	c.1719C>T	NM_032387.5	NP_115763.2:p.(His573=)	NC_000017.10:g.40939538C>T	(Likely) benign	1 lab	b27d9e0209
7:146818153 CNTNAP2 G>A	7	146818153	146818153	G	A	CNTNAP2	c.837G>A	NM_014141.6	NP_054860.1:p.(Val279=)	NC_000007.13:g.146818153G>A	(Likely) benign	1 lab	b27ea25521
2:179449235 TTN GT>G	2	179449235	179449236	GT	G	TTN	c.65042del	NM_001267550.2	NP_001254479.2:p.(Asp21681AlafsTer15)	NC_000002.11:g.179449236del	(Likely) pathogenic	1 lab	b282e25256
19:18260219 MAST3 C>T	19	18260219	18260219	C	T	MAST3	c.3613C>T	NM_015016.2	NP_055831.1:p.(Leu1205=)	NC_000019.9:g.18260219C>T	(Likely) benign	1 lab	b28392949f
12:6442592 TNFRSF1A T>G	12	6442592	6442592	T	G	TNFRSF1A	c.413A>C	NM_001065.3	NP_001056.1:p.(Glu138Ala)	NC_000012.11:g.6442592T>G	VUS	1 lab	b28756fe73
16:1262120 CACNA1H C>G	16	1262120	1262120	C	G	CACNA1H	c.4741C>G	NM_021098.3	NP_066921.2:p.(Leu1581Val)	NC_000016.9:g.1262120C>G	(Likely) benign	1 lab	b2a4d063c2
17:26864319 FOXN1 C>A	17	26864319	26864319	C	A	FOXN1	c.1812C>A	NM_003593.2	NP_003584.2:p.(Gly604=)	NC_000017.10:g.26864319C>A	(Likely) benign	1 lab	b28c1648ca
X:32472777 DMD A>C	X	32472777	32472777	A	C	DMD	c.3603+2T>G	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32472777A>C	VUS	1 lab	b291f4a4bc
2:32475391 NLRC4 T>C	2	32475391	32475391	T	C	NLRC4	c.1542A>G	NM_021209.4	NP_067032.3:p.(Gln514=)	NC_000002.11:g.32475391T>C	(Likely) benign	1 lab	b297fae893
4:79186384 FRAS1 A>G	4	79186384	79186384	A	G	FRAS1	c.687+122A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79186384A>G	(Likely) benign	1 lab	b29c43b6cb
1:92946373 GFI1 C>T	1	92946373	92946373	C	T	GFI1	c.571G>A	NM_005263.3	NP_005254.2:p.(Ala191Thr)	NC_000001.10:g.92946373C>T	(Likely) benign	1 lab	b29d4b9b0c
7:148106477 CNTNAP2 C>T	7	148106477	148106477	C	T	CNTNAP2	c.3716-6C>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148106477C>T	(Likely) benign	1 lab	b29ebb05dc
3:182759508 MCCC1 G>A	3	182759508	182759508	G	A	MCCC1	c.1114C>T	NM_020166.5	NP_064551.3:p.(Gln372Ter)	NC_000003.11:g.182759508G>A	(Likely) pathogenic	1 lab	b2a049da58
12:6091170 VWF C>G	12	6091170	6091170	C	G	VWF	c.7082-13G>C	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6091170C>G	VUS	1 lab	b2a137cf3a
1:6271178 RNF207 C>T	1	6271178	6271178	C	T	RNF207	c.1109C>T	NM_207396.3	NP_997279.2:p.(Thr370Met)	NC_000001.10:g.6271178C>T	(Likely) benign	1 lab	b2a1d7c0c2
1:247587134 NLRP3 C>T	1	247587134	247587134	C	T	NLRP3	c.398-15C>T	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247587134C>T	(Likely) benign	1 lab	b2a2594a0e
4:983723 SLC26A1 G>A	4	983723	983723	G	A	SLC26A1	c.1004C>T	NM_213613.4	NP_998778.1:p.(Pro335Leu)	NC_000004.11:g.983723G>A	(Likely) benign	1 lab	b2a976d031
9:6606690 GLDC A>T	9	6606690	6606690	A	T	GLDC	c.636-21T>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6606690A>T	(Likely) benign	1 lab	b2af2a6e05
X:70352682 MED12 C>T	X	70352682	70352682	C	T	MED12	c.4416-13C>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352682C>T	(Likely) benign	1 lab	b2b2e98f40
10:68535266 CTNNA3 C>T	10	68535266	68535266	C	T	CTNNA3	c.1064G>A	NM_013266.4	NP_037398.2:p.(Arg355Lys)	NC_000010.10:g.68535266C>T	VUS	1 lab	b2b4729130
19:54385884 PRKCG C>T	19	54385884	54385884	C	T	PRKCG	c.136C>T	NM_002739.3	NP_002730.1:p.(Pro46Ser)	NC_000019.9:g.54385884C>T	VUS	1 lab	b2b78854ea
14:64469722 SYNE2 G>A	14	64469722	64469722	G	A	SYNE2	c.4071G>A	NM_182914.2	NP_878918.2:p.(Thr1357=)	NC_000014.8:g.64469722G>A	(Likely) benign	1 lab	b2bc77b804
14:23886878 MYH7 C>T	14	23886878	23886878	C	T	MYH7	c.4187G>A	NM_000257.2	NP_000248.2:p.(Arg1396Gln)	NC_000014.8:g.23886878C>T	VUS	1 lab	b2bc90134a
1:247588072 NLRP3 T>C	1	247588072	247588072	T	C	NLRP3	c.1321T>C	NM_001243133.2	NP_001230062.1:p.(Tyr441His)	NC_000001.10:g.247588072T>C	VUS	1 lab	b2bd826c76
1:207500097 CD55 G>T	1	207500097	207500097	G	T	CD55	c.579G>T	NM_000574.3	NP_000565.1:p.(Gly193=)	NC_000001.10:g.207500097G>T	(Likely) benign	1 lab	b2bda41fd9
19:39412921 SARS2 G>A	19	39412921	39412921	G	A	SARS2	c.364-14C>T	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39412921G>A	(Likely) benign	1 lab	b2bfe5dfee
20:62073912 KCNQ2 GACC>G	20	62073912	62073919	GACC	G	KCNQ2	c.691-31_691-29del	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62073917_62073919del	(Likely) benign	1 lab	b2c348cbd0
18:12725519 PSMG2 G>A	18	12725519	12725519	G	A	PSMG2	c.784G>A	NM_020232.5	NP_064617.2:p.(Ala262Thr)	NC_000018.9:g.12725519G>A	(Likely) benign	1 lab	b2c46db41a
12:6439255 TNFRSF1A A>G	12	6439255	6439255	A	G	TNFRSF1A	c.769-23T>C	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6439255A>G	(Likely) benign	1 lab	b2c4ff9fdc
16:1262116 CACNA1H G>A	16	1262116	1262116	G	A	CACNA1H	c.4737G>A	NM_021098.3	NP_066921.2:p.(Arg1579=)	NC_000016.9:g.1262116G>A	(Likely) benign	1 lab	b2c80610a6
6:32937043 BRD2 G>A	6	32937043	32937043	G	A	BRD2	c.-1305+210G>A	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32937043G>A	(Likely) benign	1 lab	b2c9d8b8ed
19:39421331 SARS2 G>A	19	39421331	39421331	G	A	SARS2	c.46C>T	NM_017827.4	NP_060297.1:p.(Arg16Trp)	NC_000019.9:g.39421331G>A	(Likely) benign	1 lab	b2cbc0c36e
10:90770371 FAS T>G	10	90770371	90770371	T	G	FAS	c.505+14T>G	NM_152872.4	NP_690611.1:p.?	NC_000010.10:g.90770371T>G	(Likely) benign	1 lab	b2d4df385f
14:77987958 SPTLC2 C>A	14	77987958	77987958	C	A	SPTLC2	c.1304-34G>T	NM_004863.4	NP_004854.1:p.?	NC_000014.8:g.77987958C>A	(Likely) benign	1 lab	d5f5613b93
4:106819089 NPNT C>T	4	106819089	106819089	C	T	NPNT	c.103C>T	NM_001184691.2	NP_001171620.1:p.(Leu35=)	NC_000004.11:g.106819089C>T	(Likely) benign	1 lab	b2d82211b3
13:32930363 BRCA2 CT>C	13	32930363	32930367	CT	C	BRCA2	c.7436-198del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32930367del	(Likely) benign	1 lab	b2da602320
15:59519791 MYO1E T>C	15	59519791	59519791	T	C	MYO1E	c.511-2A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59519791T>C	(Likely) pathogenic	1 lab	b2e74bdc90
2:40655875 SLC8A1 A>T	2	40655875	40655875	A	T	SLC8A1	c.1546T>A	NM_021097.4	NP_066920.1:p.(Ser516Thr)	NC_000002.11:g.40655875A>T	(Likely) benign	1 lab	b2ea5226c6
3:30686292 TGFBR2 C>G	3	30686292	30686292	C	G	TGFBR2	c.223C>G	NM_001024847.2	NP_001020018.1:p.(Leu75Val)	NC_000003.11:g.30686292C>G	VUS	1 lab	b2ebe16fc1
10:115377224 NRAP T>G	10	115377224	115377224	T	G	NRAP	c.2963A>C	NM_001261463.1	NP_001248392.1:p.(Gln988Pro)	NC_000010.10:g.115377224T>G	(Likely) benign	1 lab	b2ecd17bdf
2:166904024 SCN1A C>T	2	166904024	166904024	C	T	SCN1A	c.1170+113G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166904024C>T	(Likely) benign	1 lab	b2ee1ce2e9
16:3304604 MEFV C>G	16	3304604	3304604	C	G	MEFV	c.464G>C	NM_000243.2	NP_000234.1:p.(Arg155Thr)	NC_000016.9:g.3304604C>G	VUS	1 lab	b2f5913a99
19:861911 CFD C>T	19	861911	861911	C	T	CFD	c.570C>T	NM_001928.2	NP_001919.2:p.(Thr190=)	NC_000019.9:g.861911C>T	(Likely) benign	1 lab	b2fb4efcb8
9:93606375 SYK C>T	9	93606375	93606375	C	T	SYK	c.195C>T	NM_003177.7	NP_003168.2:p.(Thr65=)	NC_000009.11:g.93606375C>T	(Likely) benign	1 lab	b2fb87d96f
3:15643043 HACL1 A>G	3	15643043	15643043	A	G	HACL1	c.-73T>C	NM_012260.4	NP_036392.2:p.?	NC_000003.11:g.15643043A>G	(Likely) benign	1 lab	d5f56d94cb
17:73838536 UNC13D C>T	17	73838536	73838536	C	T	UNC13D	c.547G>A	NM_199242.2	NP_954712.1:p.(Val183Ile)	NC_000017.10:g.73838536C>T	(Likely) benign	1 lab	b2ff8808bb
7:95800820 SLC25A13 T>C	7	95800820	95800820	T	C	SLC25A13	c.1194A>G	NM_014251.3	NP_055066.1:p.(Leu398=)	NC_000007.13:g.95800820T>C	(Likely) benign	1 lab	b3044a88ca
4:2835540 SH3BP2 C>T	4	2835540	2835540	C	T	SH3BP2	c.1749C>T	NM_001145855.2	NP_001139327.1:p.(Tyr583=)	NC_000004.11:g.2835540C>T	(Likely) benign	1 lab	b309cda06d
14:102478388 DYNC1H1 C>T	14	102478388	102478388	C	T	DYNC1H1	c.6795C>T	NM_001376.4	NP_001367.2:p.(Tyr2265=)	NC_000014.8:g.102478388C>T	(Likely) benign	1 lab	b30cb2b31d
14:23859465 MYH6 C>T	14	23859465	23859465	C	T	MYH6	c.3533G>A	NM_002471.3	NP_002462.2:p.(Arg1178Gln)	NC_000014.8:g.23859465C>T	VUS	1 lab	b311eff506
1:16377900 CLCNKB A>G	1	16377900	16377900	A	G	CLCNKB	c.1228-73A>G	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16377900A>G	(Likely) benign	1 lab	b314cd69bb
13:32900859 BRCA2 C>G	13	32900859	32900859	C	G	BRCA2	c.631+109C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900859C>G	(Likely) benign	1 lab	b314dfb5c9
6:33170729 SLC39A7 C>T	6	33170729	33170729	C	T	SLC39A7	c.983C>T	NM_006979.3	NP_008910.2:p.(Ala328Val)	NC_000006.11:g.33170729C>T	VUS	1 lab	d5fa8ed014
14:24883886 NYNRIN C>T	14	24883886	24883886	C	T	NYNRIN	c.2931C>T	NM_025081.3	NP_079357.2:p.(Asp977=)	NC_000014.8:g.24883886C>T	(Likely) benign	1 lab	b31d3b8acc
1:113460676 SLC16A1 CAATAAATA>C	1	113460676	113460725	CAATAAATA	C	SLC16A1	c.362-18_362-11del	NM_003051.4	NP_003042.3:p.?	NC_000001.10:g.113460718_113460725del	(Likely) benign	1 lab	b3248b3b4e
15:93521658 CHD2 CA>C	15	93521658	93521659	CA	C	CHD2	c.2727+46del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93521659del	(Likely) benign	1 lab	b3252a9c7d
17:27067504 NEK8 G>A	17	27067504	27067504	G	A	NEK8	c.1441G>A	NM_178170.3	NP_835464.1:p.(Glu481Lys)	NC_000017.10:g.27067504G>A	VUS	1 lab	d5fbc78c21
19:36340230 NPHS1 G>A	19	36340230	36340230	G	A	NPHS1	c.748C>T	NM_004646.3	NP_004637.1:p.(Leu250=)	NC_000019.9:g.36340230G>A	(Likely) benign	1 lab	b325ccb909
X:107863638 COL4A5 G>C	X	107863638	107863638	G	C	COL4A5	c.2659G>C	NM_000495.5	NP_000486.1:p.(Gly887Arg)	NC_000023.10:g.107863638G>C	(Likely) pathogenic	1 lab	b3275a8b0c
17:8015415 ALOXE3 C>A	17	8015415	8015415	C	A	ALOXE3	c.1176G>T	NM_001165960.1	NP_001159432.1:p.(Thr392=)	NC_000017.10:g.8015415C>A	(Likely) benign	1 lab	b3275f1363
1:158637865 SPTA1 GAA>G	1	158637865	158637881	GAA	G	SPTA1	c.1834-15_1834-14del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158637880_158637881del	(Likely) benign	1 lab	b3288dd41e
1:228509733 OBSCN C>T	1	228509733	228509733	C	T	OBSCN	c.18062C>T	NM_001271223.2	NP_001258152.2:p.(Ala6021Val)	NC_000001.10:g.228509733C>T	(Likely) benign	1 lab	b32927d710
11:117869420 IL10RA T>C	11	117869420	117869420	T	C	IL10RA	c.811-10T>C	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117869420T>C	(Likely) benign	1 lab	b32a1d1530
2:227958887 COL4A4 A>G	2	227958887	227958887	A	G	COL4A4	c.1323T>C	NM_000092.4	NP_000083.3:p.(Pro441=)	NC_000002.11:g.227958887A>G	(Likely) benign	1 lab	b32a4773a9
2:202149589 CASP8 G>C	2	202149589	202149589	G	C	CASP8	c.1030G>C	NM_001080125.2	NP_001073594.1:p.(Asp344His)	NC_000002.11:g.202149589G>C	(Likely) benign	1 lab	b32b442881
9:35072710 VCP C>G	9	35072710	35072710	C	G	VCP	c.-360G>C	NM_007126.3	NP_009057.1:p.?	NC_000009.11:g.35072710C>G	VUS	1 lab	b32c53acd1
1:11194390 MTOR G>C	1	11194390	11194390	G	C	MTOR	c.5246+18C>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11194390G>C	(Likely) benign	1 lab	b33037432e
3:38603922 SCN5A C>T	3	38603922	38603922	C	T	SCN5A	c.3947G>A	NM_198056.2	NP_932173.1:p.(Arg1316Gln)	NC_000003.11:g.38603922C>T	VUS	1 lab	b3331513e6
7:77814732 MAGI2 C>A	7	77814732	77814732	C	A	MAGI2	c.2311+214G>T	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77814732C>A	(Likely) benign	1 lab	b336812a43
17:78081529 GAA G>A	17	78081529	78081529	G	A	GAA	c.858+8G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78081529G>A	(Likely) benign	1 lab	b33696dc5e
16:5131036 ALG1 G>T	16	5131036	5131036	G	T	ALG1	c.1051G>T	NM_019109.4	NP_061982.3:p.(Glu351Ter)	NC_000016.9:g.5131036G>T	(Likely) pathogenic	1 lab	b33721d309
2:31754497 SRD5A2 T>C	2	31754497	31754497	T	C	SRD5A2	c.578A>G	NM_000348.3	NP_000339.2:p.(Asn193Ser)	NC_000002.11:g.31754497T>C	(Likely) pathogenic	1 lab	b3381245b2
1:196759379 CFHR3 T>A	1	196759379	196759379	T	A	CFHR3	c.796+22T>A	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196759379T>A	(Likely) benign	1 lab	b3395aa2ac
21:45709685 AIRE C>G	21	45709685	45709685	C	G	AIRE				NC_000021.8:g.45709685C>G	(Likely) benign	1 lab	b33be29796
16:3293298 MEFV G>C	16	3293298	3293298	G	C	MEFV	c.2189C>G	NM_000243.2	NP_000234.1:p.(Ser730Cys)	NC_000016.9:g.3293298G>C	VUS	1 lab	b33cb4f2b6
X:32716054 DMD C>T	X	32716054	32716054	C	T	DMD	c.524G>A	NM_004010.3	NP_004001.1:p.(Ser175Asn)	NC_000023.10:g.32716054C>T	VUS	1 lab	b3418e1843
1:205130481 DSTYK G>A	1	205130481	205130481	G	A	DSTYK	c.1853C>T	NM_015375.3	NP_056190.1:p.(Thr618Met)	NC_000001.10:g.205130481G>A	VUS	1 lab	b341be6fc3
18:33795867 MOCOS T>C	18	33795867	33795867	T	C	MOCOS	c.1724T>C	NM_017947.4	NP_060417.4:p.(Leu575Pro)	NC_000018.9:g.33795867T>C	(Likely) benign	1 lab	b344bc8d4d
2:24431201 ITSN2 C>CA	2	24431201	24431202	C	CA	ITSN2	c.4554-14dup	NM_001348181.2	NP_001335110.1:p.?	NC_000002.11:g.24431202dup	(Likely) benign	1 lab	b34569ee04
1:154401878 IL6R C>T	1	154401878	154401878	C	T	IL6R	c.292C>T	NM_000565.4	NP_000556.1:p.(Arg98Trp)	NC_000001.10:g.154401878C>T	(Likely) benign	1 lab	b34d09c35b
17:61557920 ACE C>T	17	61557920	61557920	C	T	ACE	c.847+31C>T	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61557920C>T	(Likely) benign	1 lab	b371c6451e
13:32915524 BRCA2 C>A	13	32915524	32915524	C	A	BRCA2	c.6841+191C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915524C>A	(Likely) benign	1 lab	b351e85c66
4:675772 MYL5 A>G	4	675772	675772	A	G	MYL5	c.511A>G	NM_002477.1	NP_002468.1:p.(Lys171Glu)	NC_000004.11:g.675772A>G	(Likely) benign	1 lab	b356436147
7:87046803 ABCB4 G>T	7	87046803	87046803	G	T	ABCB4	c.2507C>A	NM_018849.3	NP_061337.1:p.(Ala836Glu)	NC_000007.13:g.87046803G>T	VUS	1 lab	b3566fd943
2:179398995 TTN G>A	2	179398995	179398995	G	A	TTN	c.75527C>T	NM_133432.3	NP_597676.3:p.(Ala25176Val)	NC_000002.11:g.179398995G>A	VUS	1 lab	b35b785a86
9:732536 KANK1 T>C	9	732536	732536	T	C	KANK1	c.3164T>C	NM_001256877.3	NP_001243806.1:p.(Ile1055Thr)	NC_000009.11:g.732536T>C	(Likely) benign	1 lab	d608146ff7
5:157170956 LSM11 A>C	5	157170956	157170956	A	C	LSM11	c.198A>C	NM_173491.4	NP_775762.1:p.(Gly66=)	NC_000005.9:g.157170956A>C	(Likely) benign	1 lab	b370682f77
9:134393939 POMT1 C>T	9	134393939	134393939	C	T	POMT1	c.1431+15C>T	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134393939C>T	(Likely) benign	1 lab	b370790d4c
3:53221437 PRKCD C>T	3	53221437	53221437	C	T	PRKCD	c.1415+19C>T	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53221437C>T	(Likely) benign	1 lab	b3735ba486
14:102466910 DYNC1H1 CT>C	14	102466910	102466928	CT	C	DYNC1H1	c.4074+192del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102466928del	(Likely) benign	1 lab	b375a47ffe
1:172633537 FASLG A>G	1	172633537	172633537	A	G	FASLG	c.451+7A>G	NM_000639.1	NP_000630.1:p.?	NC_000001.10:g.172633537A>G	(Likely) benign	1 lab	b3767fec1f
10:75834666 VCL G>A	10	75834666	75834666	G	A	VCL	c.783+5G>A	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75834666G>A	(Likely) benign	1 lab	b377c9fd9e
1:6533148 PLEKHG5 G>A	1	6533148	6533148	G	A	PLEKHG5	c.1113C>T	NM_198681.3	NP_941374.2:p.(Phe371=)	NC_000001.10:g.6533148G>A	(Likely) benign	1 lab	b378ccba2e
1:167814905 ADCY10 C>G	1	167814905	167814905	C	G	ADCY10	c.2903G>C	NM_018417.6	NP_060887.2:p.(Arg968Pro)	NC_000001.10:g.167814905C>G	(Likely) benign	1 lab	b37bef4655
2:219942046 NHEJ1 G>A	2	219942046	219942046	G	A	NHEJ1	c.747C>T	NM_024782.2	NP_079058.1:p.(Ile249=)	NC_000002.11:g.219942046G>A	(Likely) benign	1 lab	b37df10f13
15:99671130 SYNM C>T	15	99671130	99671130	C	T	SYNM	c.2565C>T	NM_015286.6	NP_056101.5:p.(Ile855=)	NC_000015.9:g.99671130C>T	(Likely) benign	1 lab	b3829c27ea
17:40946970 WNK4 C>A	17	40946970	40946970	C	A	WNK4	c.2531C>A	NM_032387.5	NP_115763.2:p.(Ser844Tyr)	NC_000017.10:g.40946970C>A	VUS	1 lab	d60b82e0e0
2:166911148 SCN1A G>A	2	166911148	166911148	G	A	SCN1A	c.602C>T	NM_001165963.3	NP_001159435.1:p.(Ala201Val)	NC_000002.11:g.166911148G>A	(Likely) pathogenic	1 lab	b38af195ff
2:189868977 COL3A1 T>C	2	189868977	189868977	T	C	COL3A1	c.2824-6T>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189868977T>C	(Likely) benign	1 lab	b3916f4211
2:31606648 XDH G>C	2	31606648	31606648	G	C	XDH	c.859C>G	NM_000379.4	NP_000370.2:p.(Leu287Val)	NC_000002.11:g.31606648G>C	(Likely) benign	1 lab	b3947e7b5d
2:27305403 EMILIN1 C>T	2	27305403	27305403	C	T	EMILIN1	c.964C>T	NM_007046.4	NP_008977.1:p.(Arg322Trp)	NC_000002.11:g.27305403C>T	VUS	1 lab	b39758929e
3:183369012 KLHL24 C>T	3	183369012	183369012	C	T	KLHL24	c.868C>T	NM_017644.3	NP_060114.2:p.(Arg290Trp)	NC_000003.11:g.183369012C>T	VUS	1 lab	b399762b47
15:28397906 HERC2 C>T	15	28397906	28397906	C	T	HERC2	c.10817G>A	NM_004667.6	NP_004658.3:p.(Arg3606His)	NC_000015.9:g.28397906C>T	VUS	1 lab	d60e04a2c8
11:6629650 ILK T>C	11	6629650	6629650	T	C	ILK	c.282T>C	NM_004517.2	NP_004508.1:p.(Asn94=)	NC_000011.9:g.6629650T>C	(Likely) benign	1 lab	b39c6a0714
9:125145810 PTGS1 C>T	9	125145810	125145810	C	T	PTGS1	c.785C>T	NM_000962.4	NP_000953.2:p.(Pro262Leu)	NC_000009.11:g.125145810C>T	VUS	1 lab	b3a0b314aa
14:105178875 INF2 C>T	14	105178875	105178875	C	T	INF2	c.2595C>T	NM_022489.3	NP_071934.3:p.(Tyr865=)	NC_000014.8:g.105178875C>T	(Likely) benign	1 lab	b3a381971d
18:19030972 GREB1L T>C	18	19030972	19030972	T	C	GREB1L	c.1721-12T>C	NM_001142966.2	NP_001136438.1:p.?	NC_000018.9:g.19030972T>C	(Likely) benign	1 lab	b3a456f06e
10:16948208 CUBN G>A	10	16948208	16948208	G	A	CUBN	c.7906C>T	NM_001081.3	NP_001072.2:p.(Arg2636Ter)	NC_000010.10:g.16948208G>A	(Likely) pathogenic	1 lab	b3afce6049
X:154194316 F8 G>A	X	154194316	154194316	G	A	F8	c.1372C>T	NM_000132.3	NP_000123.1:p.(Arg458Cys)	NC_000023.10:g.154194316G>A	(Likely) pathogenic	1 lab	b3b0c1cae5
17:6515474 KIAA0753 T>G	17	6515474	6515474	T	G	KIAA0753	c.1316-6A>C	NM_014804.3	NP_055619.2:p.?	NC_000017.10:g.6515474T>G	(Likely) benign	1 lab	b3c874949e
1:247588449 NLRP3 C>A	1	247588449	247588449	C	A	NLRP3	c.1698C>A	NM_001243133.2	NP_001230062.1:p.(Phe566Leu)	NC_000001.10:g.247588449C>A	(Likely) pathogenic	1 lab	b3b7d38be4
15:57925825 MYZAP T>C	15	57925825	57925825	T	C	MYZAP	c.819T>C	NM_001018100.5	NP_001018110.1:p.(Ser273=)	NC_000015.9:g.57925825T>C	(Likely) benign	1 lab	d60eac4708
1:229634039 NUP133 A>T	1	229634039	229634039	A	T	NUP133	c.663T>A	NM_018230.3	NP_060700.2:p.(Ile221=)	NC_000001.10:g.229634039A>T	(Likely) benign	1 lab	b3bab26ed7
8:17793188 PCM1 G>C	8	17793188	17793188	G	C	PCM1	c.69G>C	NM_006197.4	NP_006188.4:p.(Glu23Asp)	NC_000008.10:g.17793188G>C	(Likely) benign	1 lab	b3be36ab04
10:127462710 MMP21 G>T	10	127462710	127462710	G	T	MMP21	c.387C>A	NM_147191.1	NP_671724.1:p.(Ala129=)	NC_000010.10:g.127462710G>T	(Likely) benign	1 lab	b3bea256c6
8:28573759 EXTL3 C>G	8	28573759	28573759	C	G	EXTL3	c.183C>G	NM_001440.4	NP_001431.1:p.(Gly61=)	NC_000008.10:g.28573759C>G	(Likely) benign	1 lab	b3c0de46b7
7:92077303 GATAD1 C>G	7	92077303	92077303	C	G	GATAD1	c.249+11C>G	NM_021167.5	NP_066990.3:p.?	NC_000007.13:g.92077303C>G	(Likely) benign	1 lab	b3c2dba24b
5:79025085 CMYA5 A>G	5	79025085	79025085	A	G	CMYA5	c.497A>G	NM_153610.5	NP_705838.3:p.(Lys166Arg)	NC_000005.9:g.79025085A>G	(Likely) benign	1 lab	b3c3f73425
10:21186121 NEBL A>G	10	21186121	21186121	A	G	NEBL	c.14T>C	NM_006393.2	NP_006384.1:p.(Val5Ala)	NC_000010.10:g.21186121A>G	(Likely) benign	1 lab	b3c572dc2c
1:16356583 CLCNKA C>G	1	16356583	16356583	C	G	CLCNKA	c.1408+13C>G	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16356583C>G	(Likely) benign	1 lab	b3c6bd7a1b
10:117884715 GFRA1 T>G	10	117884715	117884715	T	G	GFRA1	c.770+17A>C	NM_005264.6	NP_005255.1:p.?	NC_000010.10:g.117884715T>G	(Likely) benign	1 lab	b3c6c69df1
16:69727535 NFAT5 GCAGCAGCAGCAA>G	16	69727535	69727573	GCAGCAGCAGCAA	G	NFAT5	c.3834_3845del	NM_138713.4	NP_619727.2:p.(Gln1281_Gln1284del)	NC_000016.9:g.69727562_69727573del	(Likely) benign	1 lab	b3c85eb8c6
9:138664582 KCNT1 A>G	9	138664582	138664582	A	G	KCNT1	c.2030A>G	NM_020822.2	NP_065873.2:p.(Gln677Arg)	NC_000009.11:g.138664582A>G	(Likely) benign	1 lab	b3d05b508f
9:129455489 LMX1B G>A	9	129455489	129455489	G	A	LMX1B	c.628G>A	NM_002316.4	NP_002307.2:p.(Gly210Arg)	NC_000009.11:g.129455489G>A	(Likely) benign	1 lab	b3d28dc411
6:170871051 TBP AGC>A	6	170871051	170871053	AGC	A	TBP	c.228_229del	NM_003194.5	NP_003185.1:p.(Gln77AlafsTer100)	NC_000006.11:g.170871052_170871053del	(Likely) benign	1 lab	b3d569cf34
15:93557792 CHD2 T>G	15	93557792	93557792	T	G	CHD2	c.4693-134T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93557792T>G	(Likely) benign	1 lab	b3d6f7c5d2
1:183536490 NCF2 A>T	1	183536490	183536490	A	T	NCF2	c.714-10T>A	NM_000433.3	NP_000424.2:p.?	NC_000001.10:g.183536490A>T	(Likely) benign	1 lab	b3d7a22863
2:31598447 XDH C>T	2	31598447	31598447	C	T	XDH	c.1428-27G>A	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31598447C>T	(Likely) benign	1 lab	b3de645bd1
2:227958865 COL4A4 GGCCTGGTGCTCCAGGCAA>G	2	227958865	227958886	GGCCTGGTGCTCCAGGCAA	G	COL4A4	c.1327_1344del	NM_000092.5	NP_000083.3:p.(Pro444_Leu449del)	NC_000002.11:g.227958869_227958886del	(Likely) pathogenic	1 lab	b3e3ff3c0c
15:48777583 FBN1 T>C	15	48777583	48777583	T	C	FBN1	c.3700A>G	NM_000138.4	NP_000129.3:p.(Arg1234Gly)	NC_000015.9:g.48777583T>C	VUS	1 lab	b3e5ecf9f2
1:201288984 PKP1 C>T	1	201288984	201288984	C	T	PKP1	c.1273C>T	NM_000299.3	NP_000290.2:p.(Gln425Ter)	NC_000001.10:g.201288984C>T	(Likely) pathogenic	1 lab	b3f29c9cee
17:8131517 CTC1 A>T	17	8131517	8131517	A	T	CTC1	c.3635T>A	NM_025099.6	NP_079375.3:p.(Ile1212Asn)	NC_000017.10:g.8131517A>T	(Likely) benign	1 lab	b3f5eafa3f
2:223065900 PAX3 T>C	2	223065900	223065900	T	C	PAX3	c.1511A>G	NM_181459.4	NP_852124.1:p.(Glu504Gly)	NC_000002.11:g.223065900T>C	VUS	1 lab	b3f7fad885
12:110032952 MVK C>T	12	110032952	110032952	C	T	MVK	c.1005C>T	NM_000431.2	NP_000422.1:p.(Gly335=)	NC_000012.11:g.110032952C>T	(Likely) benign	1 lab	b3f98937a3
7:103202406 RELN C>CAAAAAAAAA	7	103202406	103202425	C	CAAAAAAAAA	RELN	c.5211-15_5211-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202417_103202425dup	VUS	1 lab	b3fcd2b8df
16:50759269 NOD2 T>A	16	50759269	50759269	T	A	NOD2	c.2883-131T>A	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50759269T>A	(Likely) benign	1 lab	b3fd16b6a9
7:44553119 NPC1L1 T>C	7	44553119	44553119	T	C	NPC1L1	c.4007A>G	NM_013389.3	NP_037521.2:p.(His1336Arg)	NC_000007.13:g.44553119T>C	(Likely) benign	1 lab	b40361fa69
8:96264527 CFAP418 A>T	8	96264527	96264527	A	T	CFAP418	c.375-16T>A	NM_177965.4	NP_808880.1:p.?	NC_000008.10:g.96264527A>T	(Likely) benign	1 lab	b40859a527
1:198682099 PTPRC A>T	1	198682099	198682099	A	T	PTPRC	c.1189A>T	NM_002838.5	NP_002829.3:p.(Ile397Phe)	NC_000001.10:g.198682099A>T	(Likely) benign	1 lab	b408c8f4c7
10:21141582 NEBL A>C	10	21141582	21141582	A	C	NEBL	c.904-4T>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21141582A>C	(Likely) benign	1 lab	b40c684ef1
4:88983088 PKD2 T>TA	4	88983088	88983089	T	TA	PKD2	c.2051dup	NM_000297.4	NP_000288.1:p.(Tyr684Ter)	NC_000004.11:g.88983089dup	(Likely) pathogenic	1 lab	b4114322b1
17:41201154 BRCA1 G>T	17	41201154	41201154	G	T	BRCA1	c.5390C>A	NM_007294.3	NP_009225.1:p.(Ser1797Ter)	NC_000017.10:g.41201154G>T	(Likely) pathogenic	1 lab	b411ebccee
X:154215527 F8 C>G	X	154215527	154215527	C	G	F8	c.655G>C	NM_000132.3	NP_000123.1:p.(Ala219Pro)	NC_000023.10:g.154215527C>G	VUS	1 lab	b4147ec465
10:97975159 BLNK A>ATG	10	97975159	97975168	A	ATG	BLNK	c.608-16_608-15dup	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.97975167_97975168dup	(Likely) benign	1 lab	b417ff03b3
19:1646394 TCF3 G>A	19	1646394	1646394	G	A	TCF3	c.105C>T	NM_003200.5	NP_003191.1:p.(Gly35=)	NC_000019.9:g.1646394G>A	(Likely) benign	1 lab	b41ab50007
6:161134069 PLG G>A	6	161134069	161134069	G	A	PLG	c.459G>A	NM_000301.3	NP_000292.1:p.(Arg153=)	NC_000006.11:g.161134069G>A	(Likely) benign	1 lab	b41afb8cf8
12:49424539 KMT2D G>A	12	49424539	49424539	G	A	KMT2D	c.13684C>T	NM_003482.3	NP_003473.3:p.(Leu4562=)	NC_000012.11:g.49424539G>A	(Likely) benign	1 lab	b41c7356cb
13:32951111 BRCA2 A>C	13	32951111	32951111	A	C	BRCA2	c.8754+183A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951111A>C	(Likely) benign	1 lab	b41d2591e8
12:53040545 KRT2 A>T	12	53040545	53040545	A	T	KRT2	c.1448T>A	NM_000423.3	NP_000414.2:p.(Leu483Gln)	NC_000012.11:g.53040545A>T	VUS	1 lab	d614b740ce
1:155262968 PKLR C>T	1	155262968	155262968	C	T	PKLR	c.1436G>A	NM_000298.6	NP_000289.1:p.(Arg479His)	NC_000001.10:g.155262968C>T	(Likely) pathogenic	1 lab	b424c63b03
5:90072211 ADGRV1 C>T	5	90072211	90072211	C	T	ADGRV1	c.12404-59C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90072211C>T	(Likely) benign	1 lab	b425c888be
19:36212299 KMT2B G>A	19	36212299	36212299	G	A	KMT2B	c.2050G>A	NM_014727.3	NP_055542.1:p.(Ala684Thr)	NC_000019.9:g.36212299G>A	VUS	1 lab	d615e193f6
14:102457817 DYNC1H1 T>A	14	102457817	102457817	T	A	DYNC1H1	c.2869-47T>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102457817T>A	(Likely) benign	1 lab	b4290be491
X:123040966 XIAP G>A	X	123040966	123040966	G	A	XIAP	c.1429G>A	NM_001167.4	NP_001158.2:p.(Ala477Thr)	NC_000023.10:g.123040966G>A	VUS	1 lab	d616912166
14:65260227 SPTB T>G	14	65260227	65260227	T	G	SPTB	c.2154A>C	NM_001024858.3	NP_001020029.1:p.(Ile718=)	NC_000014.8:g.65260227T>G	(Likely) benign	1 lab	b4657c357e
20:42788596 JPH2 TGCGGCCTCGTCGGCGCCCTCG>T	20	42788596	42788625	TGCGGCCTCGTCGGCGCCCTCG	T	JPH2	c.810_830del	NM_020433.5	NP_065166.2:p.(Glu271_Ala277del)	NC_000020.10:g.42788605_42788625del	VUS	1 lab	b430b778e6
9:136305458 ADAMTS13 C>T	9	136305458	136305458	C	T	ADAMTS13	c.1787-7C>T	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136305458C>T	(Likely) benign	1 lab	b4426ade63
11:47354186 MYBPC3 G>C	11	47354186	47354186	G	C	MYBPC3	c.3558C>G	NM_000256.3	NP_000247.2:p.(Pro1186=)	NC_000011.9:g.47354186G>C	(Likely) benign	1 lab	b442df9fe2
18:3164339 MYOM1 A>G	18	3164339	3164339	A	G	MYOM1	c.1438T>C	NM_003803.3	NP_003794.3:p.(Tyr480His)	NC_000018.9:g.3164339A>G	VUS	1 lab	b4492e4a75
12:52309224 ACVRL1 G>T	12	52309224	52309224	G	T	ACVRL1	c.988G>T	NM_000020.2	NP_000011.2:p.(Asp330Tyr)	NC_000012.11:g.52309224G>T	(Likely) pathogenic	1 lab	b44c8859c2
2:240964648 NDUFA10 C>A	2	240964648	240964648	C	A	NDUFA10	c.71G>T	NM_004544.4	NP_004535.1:p.(Arg24Leu)	NC_000002.11:g.240964648C>A	VUS	1 lab	d617805c88
1:22198700 HSPG2 C>T	1	22198700	22198700	C	T	HSPG2	c.4200G>A	NM_005529.6	NP_005520.4:p.(Pro1400=)	NC_000001.10:g.22198700C>T	(Likely) benign	1 lab	b453b10cea
1:201333506 TNNT2 AAGG>A	1	201333506	201333511	AAGG	A	TNNT2	c.412-6_412-4del	NM_001276345.2	NP_001263274.1:p.?	NC_000001.10:g.201333509_201333511del	(Likely) benign	1 lab	b456ae1a6a
14:65267609 SPTB C>CT	14	65267609	65267610	C	CT	SPTB	c.764-24dup	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65267610dup	(Likely) benign	1 lab	b45a6375c3
7:5568999 ACTB G>A	7	5568999	5568999	G	A	ACTB	c.156C>T	NM_001101.3	NP_001092.1:p.(Ser52=)	NC_000007.13:g.5568999G>A	(Likely) benign	1 lab	b45ad4dc93
X:153764178 G6PD G>A	X	153764178	153764178	G	A	G6PD	c.241C>T	NM_001042351.2	NP_001035810.1:p.(Arg81Cys)	NC_000023.10:g.153764178G>A	(Likely) pathogenic	1 lab	b45ad99dd8
19:55526340 GP6 C>G	19	55526340	55526340	C	G	GP6	c.973G>C	NM_001083899.2	NP_001077368.2:p.(Gly325Arg)	NC_000019.9:g.55526340C>G	(Likely) benign	1 lab	b46202fb6e
19:31769796 TSHZ3 T>C	19	31769796	31769796	T	C	TSHZ3	c.903A>G	NM_020856.4	NP_065907.2:p.(Gln301=)	NC_000019.9:g.31769796T>C	(Likely) benign	1 lab	b46d1f7bde
8:37609190 ERLIN2 G>A	8	37609190	37609190	G	A	ERLIN2	c.696G>A	NM_007175.8	NP_009106.1:p.(Lys232=)	NC_000008.10:g.37609190G>A	(Likely) benign	1 lab	b46d34beac
1:237947285 RYR2 G>A	1	237947285	237947285	G	A	RYR2	c.12273G>A	NM_001035.3	NP_001026.2:p.(Ala4091=)	NC_000001.10:g.237947285G>A	(Likely) benign	1 lab	b46e6cf8e5
22:36691533 MYH9 C>G	22	36691533	36691533	C	G	MYH9	c.3485+18G>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36691533C>G	(Likely) benign	1 lab	b4747415c8
2:152448537 NEB C>T	2	152448537	152448537	C	T	NEB	c.14826+11G>A	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152448537C>T	(Likely) benign	1 lab	b475bb511f
5:148431964 SH3TC2 G>A	5	148431964	148431964	G	A	SH3TC2	c.53-161C>T	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148431964G>A	(Likely) benign	1 lab	b476f9ef53
1:990297 AGRN A>G	1	990297	990297	A	G	AGRN				NC_000001.10:g.990297A>G	(Likely) benign	1 lab	b47da26ee9
14:67567808 GPHN T>C	14	67567808	67567808	T	C	GPHN	c.1293+180T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67567808T>C	(Likely) benign	1 lab	b47f8a79b7
6:7585433 DSP G>A	6	7585433	7585433	G	A	DSP	c.7938G>A	NM_004415.2	NP_004406.2:p.(Thr2646=)	NC_000006.11:g.7585433G>A	VUS	1 lab	b480bd5b05
2:50723068 NRXN1 G>A	2	50723068	50723068	G	A	NRXN1	c.3045C>T	NM_004801.5	NP_004792.1:p.(Ala1015=)	NC_000002.11:g.50723068G>A	(Likely) benign	1 lab	b482940470
6:32035554 TNXB C>T	6	32035554	32035554	C	T	TNXB	c.6428G>A	NM_019105.8	NP_061978.6:p.(Gly2143Asp)	NC_000006.11:g.32035554C>T	(Likely) benign	1 lab	b482dfac08
4:79188595 FRAS1 C>T	4	79188595	79188595	C	T	FRAS1	c.981+9C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79188595C>T	(Likely) benign	1 lab	b4845f272b
7:30700176 CRHR2 G>A	7	30700176	30700176	G	A	CRHR2	c.789+13C>T	NM_001202481.1	NP_001189410.1:p.?	NC_000007.13:g.30700176G>A	(Likely) benign	1 lab	b4868e12da
14:58965618 KIAA0586 C>T	14	58965618	58965618	C	T	KIAA0586	c.4267C>T	NM_001244189.2	NP_001231118.1:p.(Gln1423Ter)	NC_000014.8:g.58965618C>T	(Likely) pathogenic	1 lab	b4c559ce15
6:42905443 CNPY3 C>T	6	42905443	42905443	C	T	CNPY3	c.373-12C>T	NM_006586.5	NP_006577.2:p.?	NC_000006.11:g.42905443C>T	(Likely) benign	1 lab	b4887e5c0a
12:48534652 PFKM C>A	12	48534652	48534652	C	A	PFKM	c.1339C>A	NM_000289.6	NP_000280.1:p.(Gln447Lys)	NC_000012.11:g.48534652C>A	(Likely) benign	1 lab	b48caaa6ae
2:227906942 COL4A4 G>A	2	227906942	227906942	G	A	COL4A4	c.3427C>T	NM_000092.4	NP_000083.3:p.(Gln1143Ter)	NC_000002.11:g.227906942G>A	(Likely) pathogenic	1 lab	b49377cd8d
17:76116882 TMC6 T>C	17	76116882	76116882	T	C	TMC6	c.1567A>G	NM_007267.6	NP_009198.4:p.(Thr523Ala)	NC_000017.10:g.76116882T>C	(Likely) benign	1 lab	b4939bdaa5
1:156104299 LMNA CAGA>C	1	156104299	156104306	CAGA	C	LMNA	c.624_626del	NM_170707.4	NP_733821.1:p.(Lys208del)	NC_000001.10:g.156104304_156104306del	(Likely) pathogenic	1 lab	d617a8324d
1:160098946 ATP1A2 C>T	1	160098946	160098946	C	T	ATP1A2				NC_000001.10:g.160098946C>T	(Likely) benign	1 lab	b49b23b29e
1:247587815 NLRP3 A>C	1	247587815	247587815	A	C	NLRP3	c.1064A>C	NM_001243133.2	NP_001230062.1:p.(Lys355Thr)	NC_000001.10:g.247587815A>C	(Likely) pathogenic	1 lab	b4a1e9c388
7:111644201 DOCK4 A>G	7	111644201	111644201	A	G	DOCK4	c.38-15T>C	NM_014705.4	NP_055520.3:p.?	NC_000007.13:g.111644201A>G	(Likely) benign	1 lab	b4a6dd059c
15:77323565 PSTPIP1 C>T	15	77323565	77323565	C	T	PSTPIP1	c.687C>T	NM_003978.3	NP_003969.2:p.(Asn229=)	NC_000015.9:g.77323565C>T	(Likely) benign	1 lab	b4a9c30d28
19:34003596 PEPD C>T	19	34003596	34003596	C	T	PEPD	c.104G>A	NM_000285.4	NP_000276.2:p.(Arg35Gln)	NC_000019.9:g.34003596C>T	(Likely) benign	1 lab	b4aeaf4619
1:1957112 GABRD C>T	1	1957112	1957112	C	T	GABRD	c.405C>T	NM_000815.5	NP_000806.2:p.(His135=)	NC_000001.10:g.1957112C>T	(Likely) benign	1 lab	b4b05ed9eb
12:98938242 TMPO G>A	12	98938242	98938242	G	A	TMPO	c.806G>A	NM_001032283.2	NP_001027454.1:p.(Arg269His)	NC_000012.11:g.98938242G>A	(Likely) benign	1 lab	b4b51c1666
11:17794174 KCNC1 C>T	11	17794174	17794174	C	T	KCNC1	c.1533C>T	NM_004976.4	NP_004967.1:p.(Ile511=)	NC_000011.9:g.17794174C>T	(Likely) benign	1 lab	b4bbb6989b
20:36468537 CTNNBL1 G>A	20	36468537	36468537	G	A	CTNNBL1	c.1166G>A	NM_001281495.1	NP_001268424.1:p.(Arg389Gln)	NC_000020.10:g.36468537G>A	(Likely) benign	1 lab	b4bc3a6000
10:96341074 HELLS G>A	10	96341074	96341074	G	A	HELLS	c.1033-9G>A	NM_018063.5	NP_060533.2:p.?	NC_000010.10:g.96341074G>A	(Likely) benign	1 lab	b4befdd6f5
6:32946525 BRD2 G>A	6	32946525	32946525	G	A	BRD2	c.1842-342G>A	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946525G>A	(Likely) benign	1 lab	b4c40cc844
7:26765608 SKAP2 A>G	7	26765608	26765608	A	G	SKAP2	c.79-3T>C	NM_001303468.1	NP_001290397.1:p.?	NC_000007.13:g.26765608A>G	(Likely) benign	1 lab	b4cafaf0f6
2:227927264 COL4A4 C>G	2	227927264	227927264	C	G	COL4A4	c.2038G>C	NM_000092.4	NP_000083.3:p.(Gly680Arg)	NC_000002.11:g.227927264C>G	(Likely) pathogenic	1 lab	b4ceb81049
6:33641487 ITPR3 C>T	6	33641487	33641487	C	T	ITPR3	c.3048C>T	NM_002224.3	NP_002215.2:p.(Phe1016=)	NC_000006.11:g.33641487C>T	(Likely) benign	1 lab	b4d149b4cb
2:168104370 XIRP2 A>C	2	168104370	168104370	A	C	XIRP2	c.6468A>C	NM_152381.6	NP_689594.4:p.(Thr2156=)	NC_000002.11:g.168104370A>C	(Likely) benign	1 lab	b4d5c94e97
11:47355562 MYBPC3 C>T	11	47355562	47355562	C	T	MYBPC3	c.2906-1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355562C>T	(Likely) pathogenic	1 lab	b4db018330
15:57910297 MYZAP C>T	15	57910297	57910297	C	T	MYZAP	c.229C>T	NM_001018100.5	NP_001018110.1:p.(Arg77Ter)	NC_000015.9:g.57910297C>T	VUS	1 lab	b4dc4f2593
1:158617290 SPTA1 C>T	1	158617290	158617290	C	T	SPTA1	c.3896+39G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158617290C>T	(Likely) benign	1 lab	b4e0de2e63
10:127461264 MMP21 G>A	10	127461264	127461264	G	A	MMP21	c.753C>T	NM_147191.1	NP_671724.1:p.(His251=)	NC_000010.10:g.127461264G>A	(Likely) benign	1 lab	b50a4733b3
10:61840303 ANK3 G>A	10	61840303	61840303	G	A	ANK3	c.4424C>T	NM_020987.5	NP_066267.2:p.(Pro1475Leu)	NC_000010.10:g.61840303G>A	VUS	1 lab	d618bbcbb6
14:95566097 DICER1 ACACACACACAC>A	14	95566097	95566108	ACACACACACAC	A	DICER1	c.4206+9_4206+19del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566098_95566108del	(Likely) benign	1 lab	d61945c90d
15:85186705 WDR73 C>CG	15	85186705	85186711	C	CG	WDR73	c.1132dup	NM_032856.4	NP_116245.2:p.(Arg378ProfsTer12)	NC_000015.9:g.85186711dup	(Likely) benign	1 lab	b4e7ef5f98
3:47098819 SETD2 T>C	3	47098819	47098819	T	C	SETD2	c.6455A>G	NM_014159.7	NP_054878.5:p.(Tyr2152Cys)	NC_000003.11:g.47098819T>C	(Likely) benign	1 lab	d619abdd71
15:93510811 CHD2 T>C	15	93510811	93510811	T	C	CHD2	c.2189+68T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93510811T>C	(Likely) benign	1 lab	b4f248c001
5:42719126 GHR A>T	5	42719126	42719126	A	T	GHR	c.1517A>T	NM_000163.5	NP_000154.1:p.(Lys506Met)	NC_000005.9:g.42719126A>T	VUS	1 lab	d61a524106
1:247588313 NLRP3 T>C	1	247588313	247588313	T	C	NLRP3	c.1562T>C	NM_001243133.2	NP_001230062.1:p.(Met521Thr)	NC_000001.10:g.247588313T>C	VUS	1 lab	b5044a0028
6:39859415 DAAM2 A>G	6	39859415	39859415	A	G	DAAM2	c.2258A>G	NM_001201427.2	NP_001188356.1:p.(Asp753Gly)	NC_000006.11:g.39859415A>G	(Likely) benign	1 lab	b50becbf8d
19:18187091 IL12RB1 CTAT>C	19	18187091	18187101	CTAT	C	IL12RB1	c.580+13_580+15del	NM_005535.3	NP_005526.1:p.?	NC_000019.9:g.18187099_18187101del	(Likely) benign	1 lab	b50e484025
2:71883440 DYSF C>T	2	71883440	71883440	C	T	DYSF	c.4752+20C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71883440C>T	(Likely) benign	1 lab	b5106b5930
16:75267761 BCAR1 G>A	16	75267761	75267761	G	A	BCAR1	c.2221C>T	NM_001170714.3	NP_001164185.1:p.(Gln741Ter)	NC_000016.9:g.75267761G>A	VUS	1 lab	b5141ea074
7:107408037 SLC26A3 T>C	7	107408037	107408037	T	C	SLC26A3	c.2258A>G	NM_000111.2	NP_000102.1:p.(Asn753Ser)	NC_000007.13:g.107408037T>C	(Likely) benign	1 lab	b5142fff5b
5:151202403 GLRA1 G>A	5	151202403	151202403	G	A	GLRA1	c.1205C>T	NM_001146040.2	NP_001139512.1:p.(Pro402Leu)	NC_000005.9:g.151202403G>A	(Likely) benign	1 lab	b51657d570
5:161495124 GABRG2 C>T	5	161495124	161495124	C	T	GABRG2				NC_000005.9:g.161495124C>T	(Likely) benign	1 lab	b51903fcc7
2:109527239 EDAR C>T	2	109527239	109527239	C	T	EDAR	c.723G>A	NM_022336.4	NP_071731.1:p.(Glu241=)	NC_000002.11:g.109527239C>T	(Likely) benign	1 lab	b51c77534c
19:12774536 MAN2B1 C>T	19	12774536	12774536	C	T	MAN2B1	c.744G>A	NM_000528.4	NP_000519.2:p.(Pro248=)	NC_000019.9:g.12774536C>T	(Likely) benign	1 lab	b51d36be15
1:39914356 MACF1 G>A	1	39914356	39914356	G	A	MACF1	c.14002G>A	NM_012090.5	NP_036222.3:p.(Glu4668Lys)	NC_000001.10:g.39914356G>A	(Likely) benign	1 lab	d61ab24587
16:9934969 GRIN2A G>A	16	9934969	9934969	G	A	GRIN2A	c.1329-8C>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9934969G>A	(Likely) benign	1 lab	b52ae96ae4
12:52173841 SCN8A C>T	12	52173841	52173841	C	T	SCN8A	c.3820-592C>T	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52173841C>T	(Likely) benign	1 lab	b5b7cd8a6e
11:1269141 MUC5B C>A	11	1269141	1269141	C	A	MUC5B	c.11031C>A	NM_002458.3	NP_002449.2:p.(Thr3677=)	NC_000011.9:g.1269141C>A	(Likely) benign	1 lab	b52c094f41
6:137519238 IFNGR1 A>G	6	137519238	137519238	A	G	IFNGR1	c.1400T>C	NM_000416.2	NP_000407.1:p.(Leu467Pro)	NC_000006.11:g.137519238A>G	(Likely) benign	1 lab	b52e967668
11:130060428 ST14 C>A	11	130060428	130060428	C	A	ST14	c.714C>A	NM_021978.4	NP_068813.1:p.(Tyr238Ter)	NC_000011.9:g.130060428C>A	(Likely) pathogenic	1 lab	b5645db3d9
1:6273202 RNF207 C>T	1	6273202	6273202	C	T	RNF207	c.1611C>T	NM_207396.3	NP_997279.2:p.(Tyr537=)	NC_000001.10:g.6273202C>T	(Likely) benign	1 lab	b54191fdd8
11:45935445 PEX16 C>T	11	45935445	45935445	C	T	PEX16	c.812G>A	NM_004813.4	NP_004804.2:p.(Arg271Gln)	NC_000011.9:g.45935445C>T	VUS	1 lab	d61f25f472
5:125891713 ALDH7A1 C>T	5	125891713	125891713	C	T	ALDH7A1	c.1009-6G>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125891713C>T	(Likely) benign	1 lab	b54698a566
15:27018774 GABRB3 G>A	15	27018774	27018774	G	A	GABRB3	c.80+18C>T	NM_021912.5	NP_068712.1:p.?	NC_000015.9:g.27018774G>A	(Likely) benign	1 lab	b54a5f469f
4:39460510 RPL9 C>G	4	39460510	39460510	C	G	RPL9	c.-2+1G>C	NM_000661.4	NP_000652.2:p.?	NC_000004.11:g.39460510C>G	(Likely) pathogenic	1 lab	b54a9da275
5:161580200 GABRG2 C>T	5	161580200	161580200	C	T	GABRG2				NC_000005.9:g.161580200C>T	(Likely) benign	1 lab	b781c67ec9
9:14848915 FREM1 T>A	9	14848915	14848915	T	A	FREM1	c.1153-144A>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14848915T>A	(Likely) benign	1 lab	b550bf9f78
8:100790926 VPS13B A>G	8	100790926	100790926	A	G	VPS13B	c.7521A>G	NM_017890.4	NP_060360.3:p.(Leu2507=)	NC_000008.10:g.100790926A>G	(Likely) benign	1 lab	b550e464a5
X:153588557 FLNA C>T	X	153588557	153588557	C	T	FLNA	c.3606G>A	NM_001110556.2	NP_001104026.1:p.(Gly1202=)	NC_000023.10:g.153588557C>T	(Likely) benign	1 lab	b552f87d6b
2:166859170 SCN1A C>A	2	166859170	166859170	C	A	SCN1A	c.4096G>T	NM_001165963.3	NP_001159435.1:p.(Val1366Leu)	NC_000002.11:g.166859170C>A	(Likely) pathogenic	1 lab	b55b25f434
X:154225249 F8 C>G	X	154225249	154225249	C	G	F8	c.387G>C	NM_000132.3	NP_000123.1:p.(Glu129Asp)	NC_000023.10:g.154225249C>G	(Likely) pathogenic	1 lab	b55ea202dc
X:132670054 GPC3 CA>C	X	132670054	132670067	CA	C	GPC3	c.*97del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132670067del	(Likely) benign	1 lab	b561368d54
19:39075714 RYR1 C>T	19	39075714	39075714	C	T	RYR1	c.14778C>T	NM_000540.2	NP_000531.2:p.(Ile4926=)	NC_000019.9:g.39075714C>T	(Likely) benign	1 lab	b564f96ab9
2:25016045 PTRHD1 T>C	2	25016045	25016045	T	C	PTRHD1	c.202A>G	NM_001013663.2	NP_001013685.1:p.(Thr68Ala)	NC_000002.11:g.25016045T>C	VUS	1 lab	d6226fb26c
1:181764067 CACNA1E C>T	1	181764067	181764067	C	T	CACNA1E	c.5966C>T	NM_000721.4	NP_000712.2:p.(Ser1989Leu)	NC_000001.10:g.181764067C>T	VUS	1 lab	d624dbbeb2
4:169815754 PALLD G>A	4	169815754	169815754	G	A	PALLD	c.2125G>A	NM_001166108.2	NP_001159580.1:p.(Ala709Thr)	NC_000004.11:g.169815754G>A	VUS	1 lab	b56b93b3ff
9:131380051 SPTAN1 G>A	9	131380051	131380051	G	A	SPTAN1	c.5478+12G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131380051G>A	(Likely) benign	1 lab	b56c7bc857
11:65307279 LTBP3 G>T	11	65307279	65307279	G	T	LTBP3	c.3459C>A	NM_001130144.2	NP_001123616.1:p.(Ala1153=)	NC_000011.9:g.65307279G>T	VUS	1 lab	b5728a4f56
6:135784283 AHI1 G>GT	6	135784283	135784291	G	GT	AHI1	c.910dup	NM_017651.4	NP_060121.3:p.(Thr304AsnfsTer6)	NC_000006.11:g.135784291dup	(Likely) pathogenic	1 lab	b577c0de6d
4:103527867 NFKB1 C>A	4	103527867	103527867	C	A	NFKB1	c.1954+13C>A	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103527867C>A	(Likely) benign	1 lab	b57be87487
1:235940532 LYST C>G	1	235940532	235940532	C	G	LYST	c.5291G>C	NM_000081.3	NP_000072.2:p.(Gly1764Ala)	NC_000001.10:g.235940532C>G	(Likely) benign	1 lab	b58416fa3e
16:3293529 MEFV C>T	16	3293529	3293529	C	T	MEFV	c.1958G>A	NM_000243.2	NP_000234.1:p.(Arg653His)	NC_000016.9:g.3293529C>T	VUS	1 lab	b585d9121d
1:116936212 ATP1A1 C>T	1	116936212	116936212	C	T	ATP1A1	c.1527C>T	NM_001160233.1	NP_001153705.1:p.(Gly509=)	NC_000001.10:g.116936212C>T	(Likely) benign	1 lab	b58876b2c0
1:237666766 RYR2 G>C	1	237666766	237666766	G	C	RYR2	c.2574G>C	NM_001035.3	NP_001026.2:p.(Thr858=)	NC_000001.10:g.237666766G>C	(Likely) benign	1 lab	b58bc14672
17:75489176 SEPTIN9 C>T	17	75489176	75489176	C	T	SEPTIN9	c.1519+18C>T	NM_006640.4	NP_006631.2:p.?	NC_000017.10:g.75489176C>T	(Likely) benign	1 lab	b58df00d60
11:5271063 HBG1 C>T	11	5271063	5271063	C	T	HBG1	c.-29G>A	NM_000559.2	NP_000550.2:p.?	NC_000011.9:g.5271063C>T	(Likely) benign	1 lab	b5925232b0
16:75269325 BCAR1 C>T	16	75269325	75269325	C	T	BCAR1	c.1610G>A	NM_001170714.3	NP_001164185.1:p.(Arg537His)	NC_000016.9:g.75269325C>T	(Likely) benign	1 lab	b595a7ce19
17:76134072 TMC8 T>G	17	76134072	76134072	T	G	TMC8	c.1350-14T>G	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76134072T>G	(Likely) benign	1 lab	b597a7ed47
8:90971099 NBN T>C	8	90971099	90971099	T	C	NBN	c.995-17A>G	NM_002485.4	NP_002476.2:p.?	NC_000008.10:g.90971099T>C	(Likely) benign	1 lab	b598cc22b7
X:48652549 GATA1 TG>T	X	48652549	48652551	TG	T	GATA1	c.1222del	NM_002049.4	NP_002040.1:p.(Val408TrpfsTer24)	NC_000023.10:g.48652551del	VUS	1 lab	b59aa0355f
2:227919379 COL4A4 C>T	2	227919379	227919379	C	T	COL4A4	c.2791G>A	NM_000092.4	NP_000083.3:p.(Ala931Thr)	NC_000002.11:g.227919379C>T	(Likely) benign	1 lab	b59b840ef7
9:421012 DOCK8 C>T	9	421012	421012	C	T	DOCK8	c.4087C>T	NM_203447.3	NP_982272.2:p.(Arg1363Trp)	NC_000009.11:g.421012C>T	VUS	1 lab	b59f96a9ca
7:143042916 CLCN1 T>TCTGGGCTGGG	7	143042916	143042941	T	TCTGGGCTGGG	CLCN1	c.2172+77_2172+86dup	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143042932_143042941dup	(Likely) benign	1 lab	b5a274bccf
7:138434066 ATP6V0A4 G>GA	7	138434066	138434080	G	GA	ATP6V0A4	c.1030-5dup	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138434080dup	(Likely) benign	1 lab	b5b2cb5165
5:147497982 SPINK5 G>A	5	147497982	147497982	G	A	SPINK5	c.2113-18G>A	NM_006846.3	NP_006837.2:p.?	NC_000005.9:g.147497982G>A	(Likely) benign	1 lab	b5bedba00a
9:36276857 GNE A>G	9	36276857	36276857	A	G	GNE	c.51+34T>C	NM_001128227.3	NP_001121699.1:p.?	NC_000009.11:g.36276857A>G	(Likely) benign	1 lab	b5bf8ba18f
9:6595046 GLDC C>T	9	6595046	6595046	C	T	GLDC	c.1229G>A	NM_000170.2	NP_000161.2:p.(Arg410Lys)	NC_000009.11:g.6595046C>T	(Likely) benign	1 lab	b5c0dd9c5a
11:117870095 IL10RA G>C	11	117870095	117870095	G	C	IL10RA	c.1476G>C	NM_001558.3	NP_001549.2:p.(Leu492=)	NC_000011.9:g.117870095G>C	(Likely) benign	1 lab	b5c4a5ad94
2:109367707 RANBP2 A>T	2	109367707	109367707	A	T	RANBP2	c.1274-13A>T	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109367707A>T	(Likely) benign	1 lab	b5c79c3c07
19:13320252 CACNA1A G>A	19	13320252	13320252	G	A	CACNA1A	c.6400C>T	NM_001127222.2	NP_001120694.1:p.(Arg2134Cys)	NC_000019.9:g.13320252G>A	(Likely) benign	1 lab	d62764ae44
2:216279697 FN1 T>C	2	216279697	216279697	T	C	FN1	c.1820-16A>G	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216279697T>C	(Likely) benign	1 lab	b5d4b7e857
17:40948121 WNK4 T>C	17	40948121	40948121	T	C	WNK4	c.3432-20T>C	NM_032387.5	NP_115763.2:p.?	NC_000017.10:g.40948121T>C	(Likely) benign	1 lab	b5d4e50df7
1:161600832 FCGR3B G>T	1	161600832	161600832	G	T	FCGR3B	c.40+13C>A	NM_001244753.2	NP_001231682.2:p.?	NC_000001.10:g.161600832G>T	(Likely) benign	1 lab	b5d5631394
X:11139055 HCCS C>T	X	11139055	11139055	C	T	HCCS	c.550C>T	NM_005333.5	NP_005324.3:p.(Arg184Trp)	NC_000023.10:g.11139055C>T	VUS	1 lab	d62dd70d95
X:139586902 SOX3 C>G	X	139586902	139586902	C	G	SOX3	c.324G>C	NM_005634.3	NP_005625.2:p.(Lys108Asn)	NC_000023.10:g.139586902C>G	VUS	1 lab	d6363b4dd0
15:93534766 CHD2 T>C	15	93534766	93534766	T	C	CHD2	c.3455+19T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93534766T>C	(Likely) benign	1 lab	b5dddca239
19:50369787 PNKP T>C	19	50369787	50369787	T	C	PNKP	c.152-85A>G	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50369787T>C	(Likely) benign	1 lab	b5de9b8e28
13:20717380 GJA3 C>A	13	20717380	20717380	C	A	GJA3	c.48G>T	NM_021954.4	NP_068773.2:p.(Glu16Asp)	NC_000013.10:g.20717380C>A	VUS	1 lab	d6374b4762
9:127262665 NR5A1 C>A	9	127262665	127262665	C	A	NR5A1	c.574G>T	NM_004959.5	NP_004950.2:p.(Ala192Ser)	NC_000009.11:g.127262665C>A	VUS	1 lab	b5ee93cecb
12:110023907 MVK T>C	12	110023907	110023907	T	C	MVK	c.608T>C	NM_000431.2	NP_000422.1:p.(Val203Ala)	NC_000012.11:g.110023907T>C	(Likely) pathogenic	1 lab	b5ef281017
2:179442805 TTN C>T	2	179442805	179442805	C	T	TTN	c.41617G>A	NM_133432.3	NP_597676.3:p.(Glu13873Lys)	NC_000002.11:g.179442805C>T	(Likely) benign	1 lab	b5f186637f
3:196199278 RNF168 C>T	3	196199278	196199278	C	T	RNF168	c.1128G>A	NM_152617.3	NP_689830.2:p.(Glu376=)	NC_000003.11:g.196199278C>T	(Likely) benign	1 lab	b5f3699acd
X:74284940 ABCB7 T>A	X	74284940	74284940	T	A	ABCB7	c.1799A>T	NM_004299.6	NP_004290.2:p.(Asp600Val)	NC_000023.10:g.74284940T>A	(Likely) benign	1 lab	b5f80cb1d4
12:110012715 MVK C>T	12	110012715	110012715	C	T	MVK	c.78+10C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110012715C>T	(Likely) benign	1 lab	b60da9648e
3:9974926 IL17RC C>G	3	9974926	9974926	C	G	IL17RC	c.2025C>G	NM_153461.4	NP_703191.2:p.(Gly675=)	NC_000003.11:g.9974926C>G	(Likely) benign	1 lab	b6106f31ba
9:377181 DOCK8 G>A	9	377181	377181	G	A	DOCK8	c.2410G>A	NM_203447.3	NP_982272.2:p.(Val804Met)	NC_000009.11:g.377181G>A	(Likely) benign	1 lab	b613508178
4:79403000 FRAS1 C>A	4	79403000	79403000	C	A	FRAS1	c.8486C>A	NM_025074.7	NP_079350.5:p.(Ser2829Tyr)	NC_000004.11:g.79403000C>A	(Likely) benign	1 lab	b61652f9ff
8:145640093 SLC39A4 C>T	8	145640093	145640093	C	T	SLC39A4	c.901+16G>A	NM_017767.3	NP_060237.3:p.?	NC_000008.10:g.145640093C>T	(Likely) benign	1 lab	b61b79ce97
1:1959186 GABRD C>T	1	1959186	1959186	C	T	GABRD	c.553+88C>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1959186C>T	(Likely) benign	1 lab	b61c17c311
7:128477447 FLNC C>T	7	128477447	128477447	C	T	FLNC	c.700-5C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477447C>T	(Likely) benign	1 lab	b61d67fe7b
9:35699951 TLN1 C>T	9	35699951	35699951	C	T	TLN1	c.6768+20G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35699951C>T	(Likely) benign	1 lab	b62041bd81
13:39454771 FREM2 G>C	13	39454771	39454771	G	C	FREM2	c.9357G>C	NM_207361.6	NP_997244.4:p.(Thr3119=)	NC_000013.10:g.39454771G>C	(Likely) benign	1 lab	b626f15fa4
11:62301164 AHNAK G>A	11	62301164	62301164	G	A	AHNAK	c.725C>T	NM_001620.3	NP_001611.1:p.(Ser242Leu)	NC_000011.9:g.62301164G>A	VUS	1 lab	d63b7d497e
10:8105968 GATA3 G>T	10	8105968	8105968	G	T	GATA3	c.791G>T	NM_001002295.2	NP_001002295.1:p.(Cys264Phe)	NC_000010.10:g.8105968G>T	(Likely) pathogenic	1 lab	b628ec6f11
12:89918984 POC1B G>A	12	89918984	89918984	G	A	POC1B	c.16-3C>T	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89918984G>A	(Likely) benign	1 lab	b62bbf07d5
10:13239751 MCM10 C>A	10	13239751	13239751	C	A	MCM10	c.2106C>A	NM_182751.3	NP_877428.1:p.(Thr702=)	NC_000010.10:g.13239751C>A	(Likely) benign	1 lab	b62f3f8729
20:62560892 DNAJC5 G>A	20	62560892	62560892	G	A	DNAJC5	c.321+14G>A	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62560892G>A	(Likely) benign	1 lab	b632a3b82a
2:86292499 POLR1A G>C	2	86292499	86292499	G	C	POLR1A	c.1956C>G	NM_015425.6	NP_056240.2:p.(His652Gln)	NC_000002.11:g.86292499G>C	(Likely) benign	1 lab	b634a64c9c
17:63533604 AXIN2 T>C	17	63533604	63533604	T	C	AXIN2	c.1550A>G	NM_004655.4	NP_004646.3:p.(His517Arg)	NC_000017.10:g.63533604T>C	VUS	1 lab	d63c5e4b52
14:35182350 CFL2 A>G	14	35182350	35182350	A	G	CFL2	c.312-8T>C	NM_138638.4	NP_619579.1:p.?	NC_000014.8:g.35182350A>G	(Likely) benign	1 lab	b63c0027de
10:45423452 TMEM72 G>GT	10	45423452	45423453	G	GT	TMEM72	c.137+18dup	NM_001123376.3	NP_001116848.1:p.?	NC_000010.10:g.45423453dup	(Likely) benign	1 lab	b63f4911d8
4:95444963 PDLIM5 C>A	4	95444963	95444963	C	A	PDLIM5	c.185C>A	NM_001256426.1	NP_001243355.1:p.(Thr62Asn)	NC_000004.11:g.95444963C>A	(Likely) benign	1 lab	b641167295
12:103307583 PAH A>G	12	103307583	103307583	A	G	PAH	c.61-907T>C	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103307583A>G	(Likely) benign	1 lab	d63d044588
16:2149934 PKD1 C>T	16	2149934	2149934	C	T	PKD1	c.9851G>A	NM_001009944.2	NP_001009944.2:p.(Cys3284Tyr)	NC_000016.9:g.2149934C>T	VUS	1 lab	b65a0cb77c
2:31562340 XDH C>T	2	31562340	31562340	C	T	XDH	c.3774+15G>A	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31562340C>T	(Likely) benign	1 lab	b65a557660
11:64972308 CAPN1 T>A	11	64972308	64972308	T	A	CAPN1	c.1320T>A	NM_001198868.2	NP_001185797.1:p.(Thr440=)	NC_000011.9:g.64972308T>A	(Likely) benign	1 lab	b65be1fb49
6:133777690 EYA4 G>A	6	133777690	133777690	G	A	EYA4	c.278-4G>A	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133777690G>A	(Likely) benign	1 lab	b6680d4ee3
8:41566438 ANK1 C>T	8	41566438	41566438	C	T	ANK1	c.1856G>A	NM_000037.4	NP_000028.3:p.(Arg619His)	NC_000008.10:g.41566438C>T	(Likely) benign	1 lab	b670cfc93d
3:25656782 TOP2B A>G	3	25656782	25656782	A	G	TOP2B	c.3493-3T>C	NM_001068.3	NP_001059.2:p.?	NC_000003.11:g.25656782A>G	(Likely) benign	1 lab	b67497dbe5
9:140127840 SLC34A3 C>G	9	140127840	140127840	C	G	SLC34A3	c.740C>G	NM_080877.2	NP_543153.1:p.(Thr247Arg)	NC_000009.11:g.140127840C>G	VUS	1 lab	b675486965
22:32194531 DEPDC5 T>C	22	32194531	32194531	T	C	DEPDC5	c.872-37T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32194531T>C	(Likely) benign	1 lab	b6875c0c39
1:158592901 SPTA1 C>G	1	158592901	158592901	C	G	SPTA1	c.5992G>C	NM_003126.3	NP_003117.2:p.(Ala1998Pro)	NC_000001.10:g.158592901C>G	(Likely) benign	1 lab	b689e7d3b8
2:31610701 XDH C>T	2	31610701	31610701	C	T	XDH	c.627G>A	NM_000379.4	NP_000370.2:p.(Glu209=)	NC_000002.11:g.31610701C>T	(Likely) benign	1 lab	b693186c97
10:78709083 KCNMA1 G>A	10	78709083	78709083	G	A	KCNMA1	c.2364C>T	NM_001014797.3	NP_001014797.1:p.(Val788=)	NC_000010.10:g.78709083G>A	(Likely) benign	1 lab	b698ce238e
2:46313438 PRKCE G>A	2	46313438	46313438	G	A	PRKCE	c.1529G>A	NM_005400.3	NP_005391.1:p.(Arg510Gln)	NC_000002.11:g.46313438G>A	(Likely) benign	1 lab	b699ea6b74
X:41204444 DDX3X T>G	X	41204444	41204444	T	G	DDX3X	c.1037T>G	NM_001356.5	NP_001347.3:p.(Leu346Ter)	NC_000023.10:g.41204444T>G	(Likely) pathogenic	1 lab	d640b3479e
6:31933733 SKIC2 T>C	6	31933733	31933733	T	C	SKIC2	c.2145T>C	NM_006929.5	NP_008860.4:p.(Val715=)	NC_000006.11:g.31933733T>C	(Likely) benign	1 lab	b69a790ac7
6:32946029 BRD2 G>A	6	32946029	32946029	G	A	BRD2	c.1705G>A	NM_001199455.1	NP_001186384.1:p.(Ala569Thr)	NC_000006.11:g.32946029G>A	(Likely) benign	1 lab	b6a09fbfa7
12:49434871 KMT2D T>C	12	49434871	49434871	T	C	KMT2D	c.6682A>G	NM_003482.3	NP_003473.3:p.(Thr2228Ala)	NC_000012.11:g.49434871T>C	(Likely) benign	1 lab	b6a9457a3b
9:131371197 SPTAN1 C>T	9	131371197	131371197	C	T	SPTAN1	c.4536C>T	NM_001130438.2	NP_001123910.1:p.(Ile1512=)	NC_000009.11:g.131371197C>T	(Likely) benign	1 lab	b6aa88dbc3
19:38951069 RYR1 T>C	19	38951069	38951069	T	C	RYR1	c.2415T>C	NM_000540.2	NP_000531.2:p.(Pro805=)	NC_000019.9:g.38951069T>C	(Likely) benign	1 lab	b6b04da6a5
1:8424118 RERE A>AGCCCCGACTCCGC	1	8424118	8424131	A	AGCCCCGACTCCGC	RERE	c.1725_1737dup	NM_012102.4	NP_036234.3:p.(Ser580AlafsTer21)	NC_000001.10:g.8424119_8424131dup	(Likely) pathogenic	1 lab	d640b7430c
13:32914069 BRCA2 T>A	13	32914069	32914069	T	A	BRCA2	c.5577T>A	NM_000059.3	NP_000050.2:p.(Ile1859=)	NC_000013.10:g.32914069T>A	(Likely) benign	1 lab	b6b18c09f0
17:42340003 SLC4A1 C>T	17	42340003	42340003	C	T	SLC4A1	c.106+1G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42340003C>T	(Likely) pathogenic	1 lab	b6b6694c74
3:186938818 MASP1 C>T	3	186938818	186938818	C	T	MASP1	c.1909+5G>A	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.186938818C>T	(Likely) benign	1 lab	b6b6bc3adf
16:2169206 PKD1 C>T	16	2169206	2169206	C	T	PKD1	c.288-20G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2169206C>T	(Likely) benign	1 lab	b6b96787b7
22:19865724 TXNRD2 A>G	22	19865724	19865724	A	G	TXNRD2	c.1348-14T>C	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19865724A>G	(Likely) benign	1 lab	d644174c9b
11:64572604 MEN1 C>A	11	64572604	64572604	C	A	MEN1	c.1267G>T	NM_130803.2	NP_570715.1:p.(Asp423Tyr)	NC_000011.9:g.64572604C>A	(Likely) pathogenic	1 lab	b6c6313be2
6:24178785 DCDC2 A>T	6	24178785	24178785	A	T	DCDC2	c.1099T>A	NM_016356.5	NP_057440.2:p.(Ser367Thr)	NC_000006.11:g.24178785A>T	(Likely) benign	1 lab	b6c807d567
2:73676909 ALMS1 G>T	2	73676909	73676909	G	T	ALMS1	c.3258G>T	NM_015120.4	NP_055935.4:p.(Gln1086His)	NC_000002.11:g.73676909G>T	(Likely) benign	1 lab	b6c986aa99
9:35075560 FANCG C>T	9	35075560	35075560	C	T	FANCG	c.1335G>A	NM_004629.1	NP_004620.1:p.(Leu445=)	NC_000009.11:g.35075560C>T	(Likely) benign	1 lab	b6cb46e7ee
9:14863723 FREM1 C>T	9	14863723	14863723	C	T	FREM1	c.329+84G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14863723C>T	(Likely) benign	1 lab	b6cffabb72
16:3304570 MEFV C>G	16	3304570	3304570	C	G	MEFV	c.498G>C	NM_000243.2	NP_000234.1:p.(Ser166=)	NC_000016.9:g.3304570C>G	(Likely) benign	1 lab	b6d4abb13b
17:61559079 ACE C>T	17	61559079	61559079	C	T	ACE	c.1098C>T	NM_000789.4	NP_000780.1:p.(Phe366=)	NC_000017.10:g.61559079C>T	(Likely) benign	1 lab	b6d535cd7b
5:169145769 DOCK2 T>C	5	169145769	169145769	T	C	DOCK2	c.2241T>C	NM_004946.3	NP_004937.1:p.(Ile747=)	NC_000005.9:g.169145769T>C	(Likely) benign	1 lab	b6d5f990f0
21:35231013 ITSN1 G>A	21	35231013	35231013	G	A	ITSN1	c.3807G>A	NM_003024.3	NP_003015.2:p.(Glu1269=)	NC_000021.8:g.35231013G>A	(Likely) benign	1 lab	b6dadf7e7e
7:128475546 FLNC G>A	7	128475546	128475546	G	A	FLNC	c.519G>A	NM_001458.4	NP_001449.3:p.(Val173=)	NC_000007.13:g.128475546G>A	VUS	1 lab	b6dc769163
10:95088611 MYOF G>A	10	95088611	95088611	G	A	MYOF	c.5040C>T	NM_013451.4	NP_038479.1:p.(Val1680=)	NC_000010.10:g.95088611G>A	(Likely) benign	1 lab	b6e1bcbebb
17:13977689 COX10 C>A	17	13977689	13977689	C	A	COX10	c.93C>A	NM_001303.4	NP_001294.2:p.(Asp31Glu)	NC_000017.10:g.13977689C>A	(Likely) benign	1 lab	b6e5b7ba77
3:186289885 DNAJB11 C>T	3	186289885	186289885	C	T	DNAJB11	c.70C>T	NM_016306.5	NP_057390.1:p.(Arg24Ter)	NC_000003.11:g.186289885C>T	(Likely) pathogenic	1 lab	b6e8ac136d
22:51019973 CHKB A>G	22	51019973	51019973	A	G	CHKB	c.457T>C	NM_005198.4	NP_005189.2:p.(Leu153=)	NC_000022.10:g.51019973A>G	(Likely) benign	1 lab	b6ec58f5de
4:79457952 FRAS1 C>T	4	79457952	79457952	C	T	FRAS1	c.11093-197C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79457952C>T	(Likely) benign	1 lab	b6edbd8964
1:116310981 CASQ2 G>C	1	116310981	116310981	G	C	CASQ2	c.182C>G	NM_001232.3	NP_001223.2:p.(Ser61Cys)	NC_000001.10:g.116310981G>C	VUS	1 lab	b6efba405a
16:86601589 FOXC2 G>A	16	86601589	86601589	G	A	FOXC2	c.648G>A	NM_005251.3	NP_005242.1:p.(Glu216=)	NC_000016.9:g.86601589G>A	(Likely) benign	1 lab	b6f14c3f9a
1:235926002 LYST C>T	1	235926002	235926002	C	T	LYST	c.6253+18G>A	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235926002C>T	(Likely) benign	1 lab	b6f2378e93
1:24192020 FUCA1 C>T	1	24192020	24192020	C	T	FUCA1	c.485G>A	NM_000147.5	NP_000138.2:p.(Arg162Gln)	NC_000001.10:g.24192020C>T	VUS	1 lab	d644d650bb
8:48713343 PRKDC T>G	8	48713343	48713343	T	G	PRKDC	c.10116+11A>C	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48713343T>G	(Likely) benign	1 lab	b6f405b520
1:92944314 GFI1 C>CAGAGAGAGAGAGAGAG	1	92944314	92944351	C	CAGAGAGAGAGAGAGAG	GFI1	c.925-20_925-5dup	NM_005263.3	NP_005254.2:p.?	NC_000001.10:g.92944336_92944351dup	(Likely) benign	1 lab	b6f6478a53
7:24758753 GSDME C>T	7	24758753	24758753	C	T	GSDME	c.489G>A	NM_004403.3	NP_004394.1:p.(Thr163=)	NC_000007.13:g.24758753C>T	(Likely) benign	1 lab	d645fff855
9:14857740 FREM1 T>C	9	14857740	14857740	T	C	FREM1	c.639A>G	NM_144966.5	NP_659403.4:p.(Arg213=)	NC_000009.11:g.14857740T>C	(Likely) benign	1 lab	b6fd8e7526
11:88042318 CTSC T>C	11	88042318	88042318	T	C	CTSC	c.641+13A>G	NM_001814.4	NP_001805.3:p.?	NC_000011.9:g.88042318T>C	(Likely) benign	1 lab	b7026e49f5
8:17919257 ASAH1 A>G	8	17919257	17919257	A	G	ASAH1	c.697-8T>C	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17919257A>G	(Likely) benign	1 lab	b70354119a
7:98591202 TRRAP C>T	7	98591202	98591202	C	T	TRRAP	c.9773-13C>T	NM_003496.3	NP_003487.1:p.?	NC_000007.13:g.98591202C>T	(Likely) benign	1 lab	b707df6933
3:160037572 IFT80 T>C	3	160037572	160037572	T	C	IFT80	c.933A>G	NM_020800.3	NP_065851.1:p.(Thr311=)	NC_000003.11:g.160037572T>C	(Likely) benign	1 lab	b709a5b11d
15:93557793 CHD2 T>G	15	93557793	93557793	T	G	CHD2	c.4693-133T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93557793T>G	(Likely) benign	1 lab	b7140318ef
15:51032011 SPPL2A G>A	15	51032011	51032011	G	A	SPPL2A	c.599C>T	NM_032802.4	NP_116191.2:p.(Ala200Val)	NC_000015.9:g.51032011G>A	(Likely) benign	1 lab	b716569ec0
20:45353794 SLC2A10 T>C	20	45353794	45353794	T	C	SLC2A10	c.119T>C	NM_030777.4	NP_110404.1:p.(Phe40Ser)	NC_000020.10:g.45353794T>C	VUS	1 lab	b717740fa2
20:25388481 GINS1 C>T	20	25388481	25388481	C	T	GINS1	c.25C>T	NM_021067.5	NP_066545.3:p.(Leu9=)	NC_000020.10:g.25388481C>T	(Likely) benign	1 lab	b71818462f
7:143048375 CLCN1 T>C	7	143048375	143048375	T	C	CLCN1	c.2596-312T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143048375T>C	(Likely) benign	1 lab	b71bc0109d
1:237026798 MTR C>T	1	237026798	237026798	C	T	MTR	c.2349C>T	NM_000254.2	NP_000245.2:p.(Asp783=)	NC_000001.10:g.237026798C>T	(Likely) benign	1 lab	b71fd478f3
9:138661948 KCNT1 C>T	9	138661948	138661948	C	T	KCNT1	c.1619+47C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138661948C>T	(Likely) benign	1 lab	b72636dd44
X:47062594 UBA1 G>A	X	47062594	47062594	G	A	UBA1	c.1400G>A	NM_003334.4	NP_003325.2:p.(Gly467Asp)	NC_000023.10:g.47062594G>A	(Likely) benign	1 lab	d647c92ba7
9:93606342 SYK C>T	9	93606342	93606342	C	T	SYK	c.162C>T	NM_003177.7	NP_003168.2:p.(Ser54=)	NC_000009.11:g.93606342C>T	(Likely) benign	1 lab	b72e5fbef7
1:204129687 REN C>T	1	204129687	204129687	C	T	REN	c.492+1G>A	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204129687C>T	(Likely) pathogenic	1 lab	b72f7ad5a5
X:154194352 F8 G>A	X	154194352	154194352	G	A	F8	c.1336C>T	NM_000132.3	NP_000123.1:p.(Arg446Ter)	NC_000023.10:g.154194352G>A	(Likely) pathogenic	1 lab	b730de6084
16:2153464 PKD1 C>T	16	2153464	2153464	C	T	PKD1	c.8594G>A	NM_001009944.2	NP_001009944.2:p.(Arg2865Gln)	NC_000016.9:g.2153464C>T	(Likely) benign	1 lab	b732ae6477
14:95566068 DICER1 TACACACACACAC>T	14	95566068	95566109	TACACACACACAC	T	DICER1	c.4206+37_4206+48del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566098_95566109del	(Likely) benign	1 lab	d64817ac7f
16:1252416 CACNA1H C>T	16	1252416	1252416	C	T	CACNA1H	c.1966C>T	NM_021098.3	NP_066921.2:p.(Pro656Ser)	NC_000016.9:g.1252416C>T	(Likely) benign	1 lab	b7370019fa
14:68248218 ZFYVE26 G>A	14	68248218	68248218	G	A	ZFYVE26	c.4401C>T	NM_015346.3	NP_056161.2:p.(Pro1467=)	NC_000014.8:g.68248218G>A	(Likely) benign	1 lab	b7396a5f23
2:152370963 NEB A>G	2	152370963	152370963	A	G	NEB	c.23122-21T>C	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152370963A>G	(Likely) benign	1 lab	b73f1788ca
6:31937072 SKIC2 C>T	6	31937072	31937072	C	T	SKIC2	c.3415C>T	NM_006929.5	NP_008860.4:p.(Arg1139Trp)	NC_000006.11:g.31937072C>T	(Likely) benign	1 lab	b7426b0d26
20:43615839 STK4 A>T	20	43615839	43615839	A	T	STK4	c.427A>T	NM_006282.2	NP_006273.1:p.(Met143Leu)	NC_000020.10:g.43615839A>T	(Likely) benign	1 lab	b74395a1d3
5:154296632 GEMIN5 G>C	5	154296632	154296632	G	C	GEMIN5	c.1781C>G	NM_015465.5	NP_056280.2:p.(Pro594Arg)	NC_000005.9:g.154296632G>C	(Likely) benign	1 lab	b7447b0103
1:237814784 RYR2 G>A	1	237814784	237814784	G	A	RYR2	c.7807G>A	NM_001035.3	NP_001026.2:p.(Ala2603Thr)	NC_000001.10:g.237814784G>A	VUS	1 lab	b7467f5ba7
15:43038059 TTBK2 G>A	15	43038059	43038059	G	A	TTBK2	c.3669C>T	NM_173500.3	NP_775771.3:p.(His1223=)	NC_000015.9:g.43038059G>A	(Likely) benign	1 lab	b74b49ac73
14:95566095 DICER1 AC>A	14	95566095	95566096	AC	A	DICER1	c.4206+21del	NM_177438.2	NP_803187.1:p.?	NC_000014.8:g.95566096del	(Likely) benign	1 lab	b74e451919
18:48466843 ME2 C>T	18	48466843	48466843	C	T	ME2	c.1587+87C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48466843C>T	(Likely) benign	1 lab	b75ae800f3
11:1862753 TNNI2 G>A	11	1862753	1862753	G	A	TNNI2	c.521G>A	NM_001145829.2	NP_001139301.1:p.(Arg174Gln)	NC_000011.9:g.1862753G>A	(Likely) pathogenic	1 lab	d64b792a5b
16:53644789 RPGRIP1L C>T	16	53644789	53644789	C	T	RPGRIP1L	c.3701+90G>A	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53644789C>T	(Likely) benign	1 lab	b76dabd539
9:128074747 GAPVD1 C>T	9	128074747	128074747	C	T	GAPVD1	c.1458C>T	NM_001282679.2	NP_001269608.1:p.(Ser486=)	NC_000009.11:g.128074747C>T	(Likely) benign	1 lab	b76df139c0
16:50744822 NOD2 C>T	16	50744822	50744822	C	T	NOD2	c.1000C>T	NM_022162.1	NP_071445.1:p.(Arg334Trp)	NC_000016.9:g.50744822C>T	(Likely) pathogenic	1 lab	b770a55e5d
11:2906220 CDKN1C GCCGCGA>G	11	2906220	2906229	GCCGCGA	G	CDKN1C	c.461_466del	NM_001122630.2	NP_001116102.1:p.(Val154_Ala155del)	NC_000011.9:g.2906224_2906229del	(Likely) benign	1 lab	b770b4dee2
12:110023868 MVK TC>T	12	110023868	110023870	TC	T	MVK	c.571del	NM_000431.4	NP_000422.1:p.(Gln191LysfsTer5)	NC_000012.11:g.110023870del	(Likely) pathogenic	1 lab	b7747c3ae6
3:155639959 GMPS A>G	3	155639959	155639959	A	G	GMPS	c.1319-17A>G	NM_003875.3	NP_003866.1:p.?	NC_000003.11:g.155639959A>G	(Likely) benign	1 lab	d64c5824ec
17:61561304 ACE C>T	17	61561304	61561304	C	T	ACE	c.1681C>T	NM_000789.4	NP_000780.1:p.(Arg561Trp)	NC_000017.10:g.61561304C>T	(Likely) benign	1 lab	b7782075be
9:135771682 TSC1 C>T	9	135771682	135771682	C	T	TSC1	c.3435G>A	NM_000368.4	NP_000359.1:p.(Pro1145=)	NC_000009.11:g.135771682C>T	(Likely) benign	1 lab	b778f665e6
13:39588565 PROSER1 G>A	13	39588565	39588565	G	A	PROSER1	c.824C>T	NM_025138.5	NP_079414.3:p.(Pro275Leu)	NC_000013.10:g.39588565G>A	VUS	1 lab	d64d36663f
12:110012882 MVK G>A	12	110012882	110012882	G	A	MVK	c.78+177G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110012882G>A	(Likely) benign	1 lab	b7838c9277
1:245022613 HNRNPU T>C	1	245022613	245022613	T	C	HNRNPU	c.1081A>G	NM_031844.3	NP_114032.2:p.(Ile361Val)	NC_000001.10:g.245022613T>C	(Likely) benign	1 lab	b784296cb9
2:50434948 NRXN1 G>A	2	50434948	50434948	G	A	NRXN1	c.3546+28979C>T	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50434948G>A	(Likely) benign	1 lab	b78504164e
X:62875407 ARHGEF9 C>T	X	62875407	62875407	C	T	ARHGEF9	c.1267G>A	NM_015185.3	NP_056000.1:p.(Glu423Lys)	NC_000023.10:g.62875407C>T	(Likely) pathogenic	1 lab	b787e6e3c6
1:198725058 PTPRC C>T	1	198725058	198725058	C	T	PTPRC	c.3669C>T	NM_002838.5	NP_002829.3:p.(Asp1223=)	NC_000001.10:g.198725058C>T	(Likely) benign	1 lab	b789902d0a
1:63881604 ALG6 T>A	1	63881604	63881604	T	A	ALG6	c.963T>A	NM_013339.4	NP_037471.2:p.(Ser321=)	NC_000001.10:g.63881604T>A	(Likely) benign	1 lab	b789bee3c7
X:53617368 HUWE1 G>A	X	53617368	53617368	G	A	HUWE1	c.4187C>T	NM_031407.7	NP_113584.3:p.(Pro1396Leu)	NC_000023.10:g.53617368G>A	(Likely) benign	1 lab	b78a168ae4
13:39261567 FREM2 G>GGCT	13	39261567	39261588	G	GGCT	FREM2	c.105_107dup	NM_207361.6	NP_997244.4:p.(Leu38dup)	NC_000013.10:g.39261586_39261588dup	(Likely) benign	1 lab	b78b9be4b0
19:17947957 JAK3 G>A	19	17947957	17947957	G	A	JAK3	c.1767C>T	NM_000215.3	NP_000206.2:p.(Gly589=)	NC_000019.9:g.17947957G>A	(Likely) pathogenic	1 lab	b78ff6bb38
2:179498565 TTN TG>T	2	179498565	179498567	TG	T	TTN	c.42660del	NM_001267550.2	NP_001254479.2:p.(Thr14221GlnfsTer4)	NC_000002.11:g.179498567del	(Likely) pathogenic	1 lab	d64fab1612
16:28944744 CD19 G>A	16	28944744	28944744	G	A	CD19	c.749G>A	NM_001770.5	NP_001761.3:p.(Arg250Gln)	NC_000016.9:g.28944744G>A	(Likely) benign	1 lab	b790ad1d6b
6:112430673 LAMA4 G>A	6	112430673	112430673	G	A	LAMA4	c.5439C>T	NM_001105206.3	NP_001098676.2:p.(Gly1813=)	NC_000006.11:g.112430673G>A	(Likely) benign	1 lab	b79387f203
14:105177269 INF2 T>C	14	105177269	105177269	T	C	INF2	c.2240-5T>C	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105177269T>C	(Likely) benign	1 lab	b793c58856
5:89943670 ADGRV1 T>C	5	89943670	89943670	T	C	ADGRV1	c.3289+89T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89943670T>C	(Likely) benign	1 lab	b7960859e0
2:228174022 COL4A3 T>G	2	228174022	228174022	T	G	COL4A3	c.4743T>G	NM_000091.4	NP_000082.2:p.(Phe1581Leu)	NC_000002.11:g.228174022T>G	VUS	1 lab	b798716381
8:75279544 GDAP1 T>G	8	75279544	75279544	T	G	GDAP1	c.694+4256T>G	NM_001362931.2	NP_001349860.1:p.?	NC_000008.10:g.75279544T>G	(Likely) benign	1 lab	b79af10949
1:43898746 SZT2 C>T	1	43898746	43898746	C	T	SZT2	c.5518C>T	NM_015284.4	NP_056099.3:p.(Pro1840Ser)	NC_000001.10:g.43898746C>T	(Likely) benign	1 lab	b79d83ec71
11:8148301 RIC3 C>T	11	8148301	8148301	C	T	RIC3	c.575G>A	NM_001206671.4	NP_001193600.1:p.(Arg192Gln)	NC_000011.9:g.8148301C>T	(Likely) benign	1 lab	b79e76929c
1:158582637 SPTA1 C>A	1	158582637	158582637	C	A	SPTA1	c.7104G>T	NM_003126.3	NP_003117.2:p.(Lys2368Asn)	NC_000001.10:g.158582637C>A	(Likely) benign	1 lab	b7a0a43c66
2:223436719 FARSB T>G	2	223436719	223436719	T	G	FARSB	c.1641A>C	NM_005687.5	NP_005678.3:p.(Arg547=)	NC_000002.11:g.223436719T>G	(Likely) benign	1 lab	b7a3c026d3
X:30326716 NR0B1 G>T	X	30326716	30326716	G	T	NR0B1	c.765C>A	NM_000475.5	NP_000466.2:p.(Cys255Ter)	NC_000023.10:g.30326716G>T	(Likely) pathogenic	1 lab	b7aa268eca
19:6686204 C3 G>A	19	6686204	6686204	G	A	C3	c.3741C>T	NM_000064.2	NP_000055.2:p.(Asp1247=)	NC_000019.9:g.6686204G>A	(Likely) benign	1 lab	b7ac3b210d
5:176830970 F12 T>G	5	176830970	176830970	T	G	F12	c.1140A>C	NM_000505.3	NP_000496.2:p.(Leu380=)	NC_000005.9:g.176830970T>G	(Likely) benign	1 lab	b7ad6697d5
12:6094714 VWF G>A	12	6094714	6094714	G	A	VWF	c.6901+15C>T	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6094714G>A	(Likely) benign	1 lab	b7b1681d13
19:42795757 CIC C>T	19	42795757	42795757	C	T	CIC	c.5473C>T	NM_001304815.1	NP_001291744.1:p.(Gln1825Ter)	NC_000019.9:g.42795757C>T	(Likely) pathogenic	1 lab	b7b2048462
6:33170728 SLC39A7 G>T	6	33170728	33170728	G	T	SLC39A7	c.982G>T	NM_006979.3	NP_008910.2:p.(Ala328Ser)	NC_000006.11:g.33170728G>T	VUS	1 lab	d652663d96
7:156798540 MNX1 T>A	7	156798540	156798540	T	A	MNX1	c.880A>T	NM_005515.4	NP_005506.3:p.(Met294Leu)	NC_000007.13:g.156798540T>A	VUS	1 lab	b7b4840086
4:79365431 FRAS1 G>A	4	79365431	79365431	G	A	FRAS1	c.5666-1245G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79365431G>A	(Likely) benign	1 lab	b7b4dde2c2
2:113888688 IL1RN G>C	2	113888688	113888688	G	C	IL1RN	c.170G>C	NM_173843.3	NP_776215.1:p.(Cys57Ser)	NC_000002.11:g.113888688G>C	VUS	1 lab	b7b51f5805
11:67250655 AIP G>A	11	67250655	67250655	G	A	AIP	c.26G>A	NM_003977.2	NP_003968.2:p.(Arg9Gln)	NC_000011.9:g.67250655G>A	(Likely) pathogenic	1 lab	b7b6757eb2
7:131196129 PODXL A>C	7	131196129	131196129	A	C	PODXL	c.164T>G	NM_005397.4	NP_005388.2:p.(Ile55Ser)	NC_000007.13:g.131196129A>C	(Likely) benign	1 lab	b7b7f5fba7
15:45656996 GATM G>A	15	45656996	45656996	G	A	GATM	c.1041C>T	NM_001482.3	NP_001473.1:p.(Asp347=)	NC_000015.9:g.45656996G>A	(Likely) benign	1 lab	b7ba431fff
19:48800685 ODAD1 C>T	19	48800685	48800685	C	T	ODAD1	c.1561G>A	NM_144577.4	NP_653178.3:p.(Ala521Thr)	NC_000019.9:g.48800685C>T	(Likely) benign	1 lab	b7bb133bac
19:6679480 C3 G>A	19	6679480	6679480	G	A	C3	c.4484C>T	NM_000064.2	NP_000055.2:p.(Pro1495Leu)	NC_000019.9:g.6679480G>A	(Likely) benign	1 lab	b7bdce069a
14:64892725 MTHFD1 A>G	14	64892725	64892725	A	G	MTHFD1	c.954-12A>G	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64892725A>G	(Likely) benign	1 lab	b7c4a2f34e
11:101342985 TRPC6 G>A	11	101342985	101342985	G	A	TRPC6	c.2088C>T	NM_004621.6	NP_004612.2:p.(Asn696=)	NC_000011.9:g.101342985G>A	(Likely) benign	1 lab	b7c4c6cc89
2:177191606 MTX2 A>G	2	177191606	177191606	A	G	MTX2	c.232A>G	NM_001006635.3	NP_001006636.1:p.(Ile78Val)	NC_000002.11:g.177191606A>G	(Likely) benign	1 lab	b7cf9928e1
17:73839172 UNC13D G>A	17	73839172	73839172	G	A	UNC13D	c.262-18C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73839172G>A	(Likely) benign	1 lab	b7db079d04
11:57379193 SERPING1 G>T	11	57379193	57379193	G	T	SERPING1	c.1033G>T	NM_000062.2	NP_000053.2:p.(Gly345Trp)	NC_000011.9:g.57379193G>T	(Likely) pathogenic	1 lab	b7db971e5a
9:710966 KANK1 G>A	9	710966	710966	G	A	KANK1	c.200G>A	NM_015158.4	NP_055973.2:p.(Arg67Gln)	NC_000009.11:g.710966G>A	(Likely) benign	1 lab	b7de79ce86
2:50170825 NRXN1 A>T	2	50170825	50170825	A	T	NRXN1	c.4336+17T>A	NM_001135659.2	NP_001129131.1:p.?	NC_000002.11:g.50170825A>T	(Likely) benign	1 lab	b7dea4bddf
1:158585025 SPTA1 C>A	1	158585025	158585025	C	A	SPTA1	c.6769G>T	NM_003126.3	NP_003117.2:p.(Glu2257Ter)	NC_000001.10:g.158585025C>A	(Likely) pathogenic	1 lab	b7e4dfb8b2
1:5969193 NPHP4 G>A	1	5969193	5969193	G	A	NPHP4	c.1503+19C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5969193G>A	(Likely) benign	1 lab	b7ee3d28c5
4:39511530 UGDH T>TA	4	39511530	39511542	T	TA	UGDH	c.664-4dup	NM_003359.4	NP_003350.1:p.?	NC_000004.11:g.39511542dup	(Likely) benign	1 lab	b7efb5081b
16:75579711 TMEM231 C>T	16	75579711	75579711	C	T	TMEM231	c.597+13G>A	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75579711C>T	(Likely) benign	1 lab	b7f03a2c76
7:2581095 BRAT1 G>A	7	2581095	2581095	G	A	BRAT1	c.1158C>T	NM_001350626.2	NP_001337555.1:p.(Pro386=)	NC_000007.13:g.2581095G>A	(Likely) benign	1 lab	b7f41ebb0b
15:93492086 CHD2 T>G	15	93492086	93492086	T	G	CHD2	c.1378-96T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93492086T>G	(Likely) benign	1 lab	b7f83ff694
3:119190312 POGLUT1 G>A	3	119190312	119190312	G	A	POGLUT1	c.320+13G>A	NM_152305.3	NP_689518.1:p.?	NC_000003.11:g.119190312G>A	(Likely) benign	1 lab	b82528dfd1
1:6272364 RNF207 C>T	1	6272364	6272364	C	T	RNF207	c.1370C>T	NM_207396.3	NP_997279.2:p.(Ser457Leu)	NC_000001.10:g.6272364C>T	VUS	1 lab	b7fbcbdf7f
10:75867088 VCL T>TCC	10	75867088	75867090	T	TCC	VCL	c.2536_2537dup	NM_014000.2	NP_054706.1:p.(Pro847HisfsTer9)	NC_000010.10:g.75867089_75867090dup	(Likely) pathogenic	1 lab	b7fc0c40e4
17:76116924 TMC6 C>T	17	76116924	76116924	C	T	TMC6	c.1536-11G>A	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76116924C>T	(Likely) benign	1 lab	b800e25bb0
8:48771469 PRKDC G>A	8	48771469	48771469	G	A	PRKDC	c.6286C>T	NM_006904.6	NP_008835.5:p.(Pro2096Ser)	NC_000008.10:g.48771469G>A	(Likely) benign	1 lab	b8020b26be
9:135864561 GFI1B G>A	9	135864561	135864561	G	A	GFI1B	c.624G>A	NM_004188.5	NP_004179.3:p.(Glu208=)	NC_000009.11:g.135864561G>A	(Likely) benign	1 lab	b80348ecbd
16:148309 NPRL3 A>C	16	148309	148309	A	C	NPRL3	c.693-10T>G	NM_001243249.1	NP_001230178.1:p.?	NC_000016.9:g.148309A>C	(Likely) benign	1 lab	b81490fea8
9:27548428 C9orf72 T>A	9	27548428	27548428	T	A	C9orf72	c.1260-8A>T	NM_001256054.2	NP_001242983.1:p.?	NC_000009.11:g.27548428T>A	(Likely) benign	1 lab	b81b95d076
15:80460629 FAH T>C	15	80460629	80460629	T	C	FAH	c.577T>C	NM_000137.4	NP_000128.1:p.(Cys193Arg)	NC_000015.9:g.80460629T>C	(Likely) pathogenic	1 lab	b81cce873a
3:148448064 AGTR1 A>G	3	148448064	148448064	A	G	AGTR1	c.-47-10712A>G	NM_000685.4	NP_000676.1:p.?	NC_000003.11:g.148448064A>G	(Likely) benign	1 lab	b81fef3c04
16:89849522 FANCA T>C	16	89849522	89849522	T	C	FANCA	c.1471-12A>G	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89849522T>C	(Likely) benign	1 lab	b823b0eaa9
10:12139743 DHTKD1 G>A	10	12139743	12139743	G	A	DHTKD1	c.1419G>A	NM_018706.7	NP_061176.4:p.(Thr473=)	NC_000010.10:g.12139743G>A	(Likely) benign	1 lab	b82766c87f
9:131360524 SPTAN1 C>T	9	131360524	131360524	C	T	SPTAN1	c.3415-155C>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131360524C>T	(Likely) benign	1 lab	b82984c9f7
9:6604513 GLDC A>T	9	6604513	6604513	A	T	GLDC	c.1058+75T>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6604513A>T	(Likely) benign	1 lab	b82b656beb
11:62402335 GANAB C>T	11	62402335	62402335	C	T	GANAB	c.518G>A	NM_198335.4	NP_938149.2:p.(Arg173Gln)	NC_000011.9:g.62402335C>T	(Likely) benign	1 lab	b82f0321ce
16:1245879 CACNA1H C>T	16	1245879	1245879	C	T	CACNA1H	c.546-47C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1245879C>T	(Likely) benign	1 lab	b8316d02c8
X:49851247 CLCN5 C>T	X	49851247	49851247	C	T	CLCN5	c.1067C>T	NM_000084.5	NP_000075.1:p.(Pro356Leu)	NC_000023.10:g.49851247C>T	VUS	1 lab	b8319fe6d1
2:216269247 FN1 T>C	2	216269247	216269247	T	C	FN1	c.3118A>G	NM_212482.2	NP_997647.1:p.(Arg1040Gly)	NC_000002.11:g.216269247T>C	(Likely) benign	1 lab	b836dc7223
2:149226744 MBD5 C>T	2	149226744	149226744	C	T	MBD5	c.1232C>T	NM_018328.4	NP_060798.2:p.(Thr411Ile)	NC_000002.11:g.149226744C>T	(Likely) benign	1 lab	b8376d448d
X:77268482 ATP7A A>G	X	77268482	77268482	A	G	ATP7A	c.2279A>G	NM_000052.7	NP_000043.4:p.(Tyr760Cys)	NC_000023.10:g.77268482A>G	VUS	1 lab	b8385e5371
1:204125464 REN T>TCAGACAGACAGACAGACAGACAGA	1	204125464	204125492	T	TCAGACAGACAGACAGACAGACAGA	REN	c.819-41_819-18dup	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204125469_204125492dup	(Likely) benign	1 lab	b839362f13
2:3673680 COLEC11 A>G	2	3673680	3673680	A	G	COLEC11	c.191A>G	NM_199235.3	NP_954705.1:p.(Gln64Arg)	NC_000002.11:g.3673680A>G	(Likely) benign	1 lab	b8bdf6222e
22:51065401 ARSA G>C	22	51065401	51065401	G	C	ARSA	c.545C>G	NM_000487.6	NP_000478.3:p.(Pro182Arg)	NC_000022.10:g.51065401G>C	(Likely) pathogenic	1 lab	b83bdb62b4
X:119668456 CUL4B A>C	X	119668456	119668456	A	C	CUL4B	c.2215-15T>G	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119668456A>C	(Likely) benign	1 lab	b83f2f543c
11:117693134 FXYD2 G>A	11	117693134	117693134	G	A	FXYD2	c.126C>T	NM_001680.5	NP_001671.2:p.(Leu42=)	NC_000011.9:g.117693134G>A	(Likely) benign	1 lab	b84325c775
2:50149178 NRXN1 T>C	2	50149178	50149178	T	C	NRXN1	c.4548A>G	NM_001135659.2	NP_001129131.1:p.(Ala1516=)	NC_000002.11:g.50149178T>C	(Likely) benign	1 lab	b8433408e4
2:242795126 PDCD1 G>A	2	242795126	242795126	G	A	PDCD1	c.83C>T	NM_005018.3	NP_005009.2:p.(Pro28Leu)	NC_000002.11:g.242795126G>A	(Likely) benign	1 lab	b847110b53
9:14859241 FREM1 C>T	9	14859241	14859241	C	T	FREM1	c.571G>A	NM_144966.5	NP_659403.4:p.(Gly191Arg)	NC_000009.11:g.14859241C>T	(Likely) benign	1 lab	b84e83a71c
20:62039784 KCNQ2 G>A	20	62039784	62039784	G	A	KCNQ2	c.1869C>T	NM_172107.4	NP_742105.1:p.(Leu623=)	NC_000020.10:g.62039784G>A	(Likely) benign	1 lab	b84e855400
2:166172191 SCN2A A>G	2	166172191	166172191	A	G	SCN2A	c.1594A>G	NM_021007.3	NP_066287.2:p.(Ile532Val)	NC_000002.11:g.166172191A>G	VUS	1 lab	b84f97cb59
12:45814892 ANO6 C>T	12	45814892	45814892	C	T	ANO6	c.2256C>T	NM_001025356.3	NP_001020527.2:p.(Arg752=)	NC_000012.11:g.45814892C>T	(Likely) benign	1 lab	b84fdad730
10:68940115 CTNNA3 C>T	10	68940115	68940115	C	T	CTNNA3	c.1007G>A	NM_013266.4	NP_037398.2:p.(Arg336His)	NC_000010.10:g.68940115C>T	VUS	1 lab	b850ab4462
5:11346466 CTNND2 A>G	5	11346466	11346466	A	G	CTNND2	c.1628+18T>C	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11346466A>G	(Likely) benign	1 lab	b85237e3b7
3:53215448 PRKCD C>T	3	53215448	53215448	C	T	PRKCD	c.377-12C>T	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53215448C>T	(Likely) benign	1 lab	b8526bff41
6:32800575 TAP2 T>C	6	32800575	32800575	T	C	TAP2	c.972A>G	NM_000544.3	NP_000535.3:p.(Ala324=)	NC_000006.11:g.32800575T>C	(Likely) benign	1 lab	b854b551c7
21:33039629 SOD1 A>G	21	33039629	33039629	A	G	SOD1	c.298A>G	NM_000454.4	NP_000445.1:p.(Ile100Val)	NC_000021.8:g.33039629A>G	VUS	1 lab	b85912aa2f
7:77006717 GSAP CA>C	7	77006717	77006739	CA	C	GSAP	c.577-11del	NM_017439.4	NP_059135.2:p.?	NC_000007.13:g.77006739del	(Likely) benign	1 lab	b85ccfa62b
7:117243664 CFTR G>A	7	117243664	117243664	G	A	CFTR	c.2736G>A	NM_000492.3	NP_000483.3:p.(Ser912=)	NC_000007.13:g.117243664G>A	(Likely) benign	1 lab	b85dceb8e0
2:46378377 PRKCE C>T	2	46378377	46378377	C	T	PRKCE	c.1920+9C>T	NM_005400.3	NP_005391.1:p.?	NC_000002.11:g.46378377C>T	(Likely) benign	1 lab	b8616443f3
21:47535942 COL6A2 G>A	21	47535942	47535942	G	A	COL6A2	c.875G>A	NM_001849.3	NP_001840.3:p.(Gly292Asp)	NC_000021.8:g.47535942G>A	(Likely) pathogenic	1 lab	b867fd686c
10:112583382 RBM20 A>C	10	112583382	112583382	A	C	RBM20	c.3451+10A>C	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112583382A>C	(Likely) benign	1 lab	b868781658
1:44363900 ST3GAL3 T>C	1	44363900	44363900	T	C	ST3GAL3	c.605-7T>C	NM_174963.5	NP_777623.2:p.?	NC_000001.10:g.44363900T>C	(Likely) benign	1 lab	b86ba45706
9:139840908 C8G G>A	9	139840908	139840908	G	A	C8G	c.455-9G>A	NM_000606.3	NP_000597.2:p.?	NC_000009.11:g.139840908G>A	(Likely) benign	1 lab	b87264b7b0
13:32905050 BRCA2 T>C	13	32905050	32905050	T	C	BRCA2	c.682-6T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905050T>C	VUS	1 lab	b878efaa51
16:3293402 MEFV C>G	16	3293402	3293402	C	G	MEFV	c.2085G>C	NM_000243.2	NP_000234.1:p.(Lys695Asn)	NC_000016.9:g.3293402C>G	(Likely) pathogenic	1 lab	b87ebd2e75
1:228444318 OBSCN T>G	1	228444318	228444318	T	G	OBSCN	c.4586-34T>G	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228444318T>G	(Likely) benign	1 lab	b87fc60252
9:98691165 ERCC6L2 A>T	9	98691165	98691165	A	T	ERCC6L2				NC_000009.11:g.98691165A>T	(Likely) benign	1 lab	bb55413f73
11:62469966 BSCL2 A>G	11	62469966	62469966	A	G	BSCL2	c.460T>C	NM_001122955.3	NP_001116427.1:p.(Ser154Pro)	NC_000011.9:g.62469966A>G	(Likely) pathogenic	1 lab	b8821ecae1
1:201331256 TNNT2 G>A	1	201331256	201331256	G	A	TNNT2	c.580-106C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331256G>A	(Likely) benign	1 lab	b8845d665c
8:17782299 PCM1 C>T	8	17782299	17782299	C	T	PCM1	c.-23+10C>T	NM_006197.4	NP_006188.4:p.?	NC_000008.10:g.17782299C>T	(Likely) benign	1 lab	b888b4b008
12:110028582 MVK A>G	12	110028582	110028582	A	G	MVK	c.684A>G	NM_000431.2	NP_000422.1:p.(Pro228=)	NC_000012.11:g.110028582A>G	VUS	1 lab	b88b8e8d97
1:9781831 PIK3CD C>T	1	9781831	9781831	C	T	PIK3CD	c.1968C>T	NM_005026.3	NP_005017.3:p.(His656=)	NC_000001.10:g.9781831C>T	(Likely) benign	1 lab	b88cccea0c
X:119059263 NKAP T>C	X	119059263	119059263	T	C	NKAP	c.1168A>G	NM_024528.4	NP_078804.2:p.(Arg390Gly)	NC_000023.10:g.119059263T>C	VUS	1 lab	d65cbf55b8
14:67555684 GPHN T>C	14	67555684	67555684	T	C	GPHN	c.1145-16T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67555684T>C	(Likely) benign	1 lab	b88f1906e3
9:6592868 GLDC G>C	9	6592868	6592868	G	C	GLDC	c.1384C>G	NM_000170.2	NP_000161.2:p.(Leu462Val)	NC_000009.11:g.6592868G>C	(Likely) benign	1 lab	b88fa65d2b
8:27324870 CHRNA2 G>T	8	27324870	27324870	G	T	CHRNA2	c.340-15C>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27324870G>T	(Likely) benign	1 lab	b891b084ae
17:66551845 FAM20A G>A	17	66551845	66551845	G	A	FAM20A	c.444C>T	NM_017565.4	NP_060035.2:p.(Ser148=)	NC_000017.10:g.66551845G>A	(Likely) benign	1 lab	b897a6bc1e
6:33170194 SLC39A7 T>C	6	33170194	33170194	T	C	SLC39A7	c.789T>C	NM_006979.3	NP_008910.2:p.(His263=)	NC_000006.11:g.33170194T>C	(Likely) benign	1 lab	b897dc1972
5:90459521 ADGRV1 G>T	5	90459521	90459521	G	T	ADGRV1	c.18803-78G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90459521G>T	(Likely) benign	1 lab	b96375bb4f
5:79028819 CMYA5 T>G	5	79028819	79028819	T	G	CMYA5	c.4231T>G	NM_153610.5	NP_705838.3:p.(Ser1411Ala)	NC_000005.9:g.79028819T>G	(Likely) benign	1 lab	b89a38de24
1:158592781 SPTA1 G>A	1	158592781	158592781	G	A	SPTA1	c.6112C>T	NM_003126.3	NP_003117.2:p.(Leu2038=)	NC_000001.10:g.158592781G>A	(Likely) benign	1 lab	b89bdbd4c5
6:32945599 BRD2 C>T	6	32945599	32945599	C	T	BRD2	c.1395C>T	NM_001199455.1	NP_001186384.1:p.(Val465=)	NC_000006.11:g.32945599C>T	(Likely) benign	1 lab	b89f782460
X:133087210 GPC3 C>T	X	133087210	133087210	C	T	GPC3	c.204G>A	NM_004484.3	NP_004475.1:p.(Lys68=)	NC_000023.10:g.133087210C>T	(Likely) benign	1 lab	b8a0c30e0d
11:61133391 TMEM138 G>A	11	61133391	61133391	G	A	TMEM138	c.129-126G>A	NM_016464.5	NP_057548.1:p.?	NC_000011.9:g.61133391G>A	(Likely) benign	1 lab	b8a57cf029
3:195796307 TFRC T>C	3	195796307	195796307	T	C	TFRC	c.801+19A>G	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195796307T>C	(Likely) benign	1 lab	b8a6c9c2ed
14:65253232 SPTB T>C	14	65253232	65253232	T	C	SPTB	c.3451A>G	NM_001024858.3	NP_001020029.1:p.(Asn1151Asp)	NC_000014.8:g.65253232T>C	(Likely) benign	1 lab	b8b425db70
9:136313924 ADAMTS13 G>A	9	136313924	136313924	G	A	ADAMTS13	c.2861+75G>A	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136313924G>A	(Likely) benign	1 lab	b8b881bc78
14:77493140 IRF2BPL G>A	14	77493140	77493140	G	A	IRF2BPL	c.996C>T	NM_024496.4	NP_078772.1:p.(Pro332=)	NC_000014.8:g.77493140G>A	(Likely) benign	1 lab	b8b92bcfd6
2:73677853 ALMS1 A>G	2	73677853	73677853	A	G	ALMS1	c.4202A>G	NM_015120.4	NP_055935.4:p.(His1401Arg)	NC_000002.11:g.73677853A>G	(Likely) benign	1 lab	b8ba0fb2c8
9:14801713 FREM1 G>A	9	14801713	14801713	G	A	FREM1	c.3631C>T	NM_144966.5	NP_659403.4:p.(Pro1211Ser)	NC_000009.11:g.14801713G>A	(Likely) benign	1 lab	b8ba795c09
8:94803510 TMEM67 A>G	8	94803510	94803510	A	G	TMEM67	c.1538A>G	NM_153704.5	NP_714915.3:p.(Tyr513Cys)	NC_000008.10:g.94803510A>G	(Likely) pathogenic	1 lab	b8bb05f786
20:30407978 MYLK2 A>G	20	30407978	30407978	A	G	MYLK2	c.102A>G	NM_033118.3	NP_149109.1:p.(Lys34=)	NC_000020.10:g.30407978A>G	(Likely) benign	1 lab	b8bfa9cec7
14:95560417 DICER1 C>CG	14	95560417	95560420	C	CG	DICER1	c.5171dup	NM_177438.2	NP_803187.1:p.(Arg1725AlafsTer40)	NC_000014.8:g.95560420dup	(Likely) pathogenic	1 lab	b8c8e4978d
X:31224768 DMD T>G	X	31224768	31224768	T	G	DMD	c.9580A>C	NM_004006.2	NP_003997.1:p.(Ile3194Leu)	NC_000023.10:g.31224768T>G	VUS	1 lab	b8c9c654c8
1:237777871 RYR2 G>A	1	237777871	237777871	G	A	RYR2	c.5443G>A	NM_001035.3	NP_001026.2:p.(Glu1815Lys)	NC_000001.10:g.237777871G>A	VUS	1 lab	b8d5303d15
9:14824088 FREM1 T>C	9	14824088	14824088	T	C	FREM1	c.2104A>G	NM_144966.5	NP_659403.4:p.(Met702Val)	NC_000009.11:g.14824088T>C	(Likely) benign	1 lab	b8d797c085
15:61521328 RORA C>T	15	61521328	61521328	C	T	RORA	c.90G>A	NM_134261.2	NP_599023.1:p.(Pro30=)	NC_000015.9:g.61521328C>T	(Likely) benign	1 lab	b8d83e933a
X:99662041 PCDH19 G>A	X	99662041	99662041	G	A	PCDH19	c.1555C>T	NM_001184880.2	NP_001171809.1:p.(Arg519Ter)	NC_000023.10:g.99662041G>A	(Likely) pathogenic	1 lab	b8d8f28190
8:72267083 EYA1 G>C	8	72267083	72267083	G	C	EYA1	c.58C>G	NM_000503.5	NP_000494.2:p.(Pro20Ala)	NC_000008.10:g.72267083G>C	(Likely) benign	1 lab	b9da136a72
15:73616238 HCN4 G>A	15	73616238	73616238	G	A	HCN4	c.2196C>T	NM_005477.3	NP_005468.1:p.(Gly732=)	NC_000015.9:g.73616238G>A	(Likely) benign	1 lab	b8e2f53441
14:64920474 MTHFD1 C>T	14	64920474	64920474	C	T	MTHFD1	c.2460C>T	NM_005956.4	NP_005947.3:p.(Leu820=)	NC_000014.8:g.64920474C>T	(Likely) benign	1 lab	b8e47c232c
2:44527140 SLC3A1 G>T	2	44527140	44527140	G	T	SLC3A1	c.922G>T	NM_000341.4	NP_000332.2:p.(Val308Phe)	NC_000002.11:g.44527140G>T	VUS	1 lab	b8e4957d06
X:153994481 DKC1 T>C	X	153994481	153994481	T	C	DKC1	c.264-10T>C	NM_001363.3	NP_001354.1:p.?	NC_000023.10:g.153994481T>C	(Likely) benign	1 lab	b8e737e00b
1:6007346 NPHP4 G>A	1	6007346	6007346	G	A	NPHP4	c.993-56C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6007346G>A	(Likely) benign	1 lab	b9a6136f16
4:166915655 TLL1 A>G	4	166915655	166915655	A	G	TLL1	c.484A>G	NM_012464.5	NP_036596.3:p.(Ile162Val)	NC_000004.11:g.166915655A>G	VUS	1 lab	b8e83beca4
2:189922085 COL5A2 T>C	2	189922085	189922085	T	C	COL5A2	c.2298A>G	NM_000393.5	NP_000384.2:p.(Glu766=)	NC_000002.11:g.189922085T>C	(Likely) benign	1 lab	b8e847fcc3
14:24629557 RNF31 G>T	14	24629557	24629557	G	T	RNF31	c.3106G>T	NM_017999.5	NP_060469.4:p.(Val1036Leu)	NC_000014.8:g.24629557G>T	(Likely) benign	1 lab	b8e9310718
16:81121436 GCSH A>G	16	81121436	81121436	A	G	GCSH	c.229-167T>C	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81121436A>G	(Likely) benign	1 lab	b8eb5c331f
16:2546341 TBC1D24 C>T	16	2546341	2546341	C	T	TBC1D24	c.192C>T	NM_001199107.2	NP_001186036.1:p.(Cys64=)	NC_000016.9:g.2546341C>T	(Likely) benign	1 lab	b8ec469864
3:168812938 MECOM A>T	3	168812938	168812938	A	T	MECOM	c.2381T>A	NM_001105078.4	NP_001098548.2:p.(Leu794Ter)	NC_000003.11:g.168812938A>T	(Likely) pathogenic	1 lab	b8f1bb515f
4:113352955 ALPK1 C>T	4	113352955	113352955	C	T	ALPK1	c.2252C>T	NM_025144.4	NP_079420.3:p.(Pro751Leu)	NC_000004.11:g.113352955C>T	(Likely) benign	1 lab	b8f5eb9c59
4:88986657 PKD2 A>G	4	88986657	88986657	A	G	PKD2	c.2240+10A>G	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88986657A>G	(Likely) benign	1 lab	b8f73572f7
15:89865094 POLG T>G	15	89865094	89865094	T	G	POLG	c.2481-10A>C	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89865094T>G	(Likely) benign	1 lab	b8f772bdd8
3:14176660 TMEM43 G>T	3	14176660	14176660	G	T	TMEM43	c.708G>T	NM_024334.2	NP_077310.1:p.(Val236=)	NC_000003.11:g.14176660G>T	(Likely) benign	1 lab	b8fe3ab8e8
16:1614132 IFT140 T>C	16	1614132	1614132	T	C	IFT140	c.1933A>G	NM_014714.4	NP_055529.2:p.(Asn645Asp)	NC_000016.9:g.1614132T>C	(Likely) benign	1 lab	b8fea69c50
9:123234158 CDK5RAP2 T>G	9	123234158	123234158	T	G	CDK5RAP2	c.1728-2A>C	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123234158T>G	(Likely) pathogenic	1 lab	b900db09cd
16:2152086 PKD1 TGAC>T	16	2152086	2152091	TGAC	T	PKD1	c.9370_9372del	NM_001009944.3	NP_001009944.3:p.(Val3124del)	NC_000016.9:g.2152089_2152091del	VUS	1 lab	b905dbad6f
1:26139879 SELENON C>G	1	26139879	26139879	C	G	SELENON	c.1388-493C>G	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139879C>G	(Likely) benign	1 lab	b9092eaa49
2:179523823 TTN G>A	2	179523823	179523823	G	A	TTN	c.37370-8C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179523823G>A	(Likely) benign	1 lab	b90c3f0bf4
16:3304618 MEFV C>T	16	3304618	3304618	C	T	MEFV	c.450G>A	NM_000243.2	NP_000234.1:p.(Gly150=)	NC_000016.9:g.3304618C>T	(Likely) benign	1 lab	b90cc4369b
20:8632317 PLCB1 C>G	20	8632317	8632317	C	G	PLCB1	c.594+2221C>G	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8632317C>G	(Likely) benign	1 lab	b90efe306d
14:23855850 MYH6 G>A	14	23855850	23855850	G	A	MYH6	c.4651-18C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23855850G>A	(Likely) benign	1 lab	b90f336a94
12:12871853 CDKN1B G>C	12	12871853	12871853	G	C	CDKN1B	c.570G>C	NM_004064.4	NP_004055.1:p.(Lys190Asn)	NC_000012.11:g.12871853G>C	VUS	1 lab	b910351c38
4:78987285 FRAS1 C>A	4	78987285	78987285	C	A	FRAS1	c.108+115C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78987285C>A	(Likely) benign	1 lab	b911f88907
5:90448993 ADGRV1 C>G	5	90448993	90448993	C	G	ADGRV1	c.18625-45C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90448993C>G	(Likely) benign	1 lab	b91e6cc7fd
X:107827760 COL4A5 GT>G	X	107827760	107827772	GT	G	COL4A5	c.1032+17del	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107827772del	(Likely) benign	1 lab	b924a5e2d0
4:114294571 ANK2 G>A	4	114294571	114294571	G	A	ANK2	c.11825G>A	NM_001148.4	NP_001139.3:p.(Arg3942His)	NC_000004.11:g.114294571G>A	VUS	1 lab	b92765efc6
9:128112702 GAPVD1 G>A	9	128112702	128112702	G	A	GAPVD1	c.3463+19G>A	NM_001282679.2	NP_001269608.1:p.?	NC_000009.11:g.128112702G>A	(Likely) benign	1 lab	b97f9d9215
16:81904374 PLCG2 A>AT	16	81904374	81904375	A	AT	PLCG2	c.565-83_565-82insT	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81904374_81904375insT	(Likely) benign	1 lab	b933a94a91
15:48888525 FBN1 G>A	15	48888525	48888525	G	A	FBN1	c.493C>T	NM_000138.4	NP_000129.3:p.(Arg165Ter)	NC_000015.9:g.48888525G>A	(Likely) pathogenic	1 lab	b9390a0f1d
9:130582181 ENG C>A	9	130582181	130582181	C	A	ENG	c.1270G>T	NM_000118.3	NP_000109.1:p.(Glu424Ter)	NC_000009.11:g.130582181C>A	(Likely) pathogenic	1 lab	b939b06d80
7:150644758 KCNH2 C>A	7	150644758	150644758	C	A	KCNH2	c.2901G>T	NM_000238.3	NP_000229.1:p.(Pro967=)	NC_000007.13:g.150644758C>A	(Likely) benign	1 lab	b93a40ca55
12:56740216 STAT2 C>T	12	56740216	56740216	C	T	STAT2	c.2044+10G>A	NM_005419.4	NP_005410.1:p.?	NC_000012.11:g.56740216C>T	(Likely) benign	1 lab	b93b6bfb02
14:105174218 INF2 C>T	14	105174218	105174218	C	T	INF2	c.1614C>T	NM_022489.3	NP_071934.3:p.(Ile538=)	NC_000014.8:g.105174218C>T	(Likely) benign	1 lab	b94036d819
21:34635433 IFNAR2 T>A	21	34635433	34635433	T	A	IFNAR2	c.1176T>A	NM_207585.2	NP_997468.1:p.(Ser392Arg)	NC_000021.8:g.34635433T>A	(Likely) benign	1 lab	b947bc7d8c
22:21351074 LZTR1 T>C	22	21351074	21351074	T	C	LZTR1	c.2309T>C	NM_006767.4	NP_006758.2:p.(Val770Ala)	NC_000022.10:g.21351074T>C	VUS	1 lab	d65d871000
4:114279462 ANK2 A>G	4	114279462	114279462	A	G	ANK2	c.9688A>G	NM_001148.4	NP_001139.3:p.(Thr3230Ala)	NC_000004.11:g.114279462A>G	(Likely) benign	1 lab	b94c0f16ca
5:156741335 CYFIP2 C>G	5	156741335	156741335	C	G	CYFIP2	c.1111-17C>G	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156741335C>G	(Likely) benign	1 lab	b951b4bee7
5:45303672 HCN1 T>C	5	45303672	45303672	T	C	HCN1	c.1618+29A>G	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45303672T>C	(Likely) benign	1 lab	b9565ac58e
8:11413010 BLK G>A	8	11413010	11413010	G	A	BLK	c.772+17G>A	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11413010G>A	(Likely) benign	1 lab	b95867035b
2:234676903 UGT1A1 T>C	2	234676903	234676903	T	C	UGT1A1	c.1122T>C	NM_000463.3	NP_000454.1:p.(Gly374=)	NC_000002.11:g.234676903T>C	(Likely) benign	1 lab	d65ef2c713
2:85769732 MAT2A T>C	2	85769732	85769732	T	C	MAT2A	c.813T>C	NM_005911.6	NP_005902.1:p.(Tyr271=)	NC_000002.11:g.85769732T>C	(Likely) benign	1 lab	b96196008a
15:85401055 ALPK3 C>A	15	85401055	85401055	C	A	ALPK3	c.3692C>A	NM_020778.4	NP_065829.3:p.(Thr1231Asn)	NC_000015.9:g.85401055C>A	(Likely) benign	1 lab	b9663efe16
1:17380498 SDHB GC>G	1	17380498	17380499	GC	G	SDHB	c.16del	NM_003000.3	NP_002991.2:p.(Ala6ProfsTer4)	NC_000001.10:g.17380499del	(Likely) pathogenic	1 lab	d65feaf4c3
2:143643010 KYNU C>T	2	143643010	143643010	C	T	KYNU	c.74C>T	NM_003937.3	NP_003928.1:p.(Thr25Met)	NC_000002.11:g.143643010C>T	(Likely) benign	1 lab	b96e1e464e
2:241814550 AGXT G>A	2	241814550	241814550	G	A	AGXT	c.705G>A	NM_000030.3	NP_000021.1:p.(Thr235=)	NC_000002.11:g.241814550G>A	(Likely) benign	1 lab	b970719edf
17:7452772 TNFSF12 G>A	17	7452772	7452772	G	A	TNFSF12	c.160-19G>A	NM_003809.3	NP_003800.1:p.?	NC_000017.10:g.7452772G>A	(Likely) benign	1 lab	b978ecbc69
X:114138144 HTR2C C>G	X	114138144	114138144	C	G	HTR2C	c.551-3008C>G	NM_001256760.2	NP_001243689.1:p.?	NC_000023.10:g.114138144C>G	(Likely) benign	1 lab	b97b75cc4e
3:45811713 SLC6A20 C>T	3	45811713	45811713	C	T	SLC6A20	c.1086G>A	NM_020208.4	NP_064593.1:p.(Ser362=)	NC_000003.11:g.45811713C>T	(Likely) benign	1 lab	b9856fd996
10:21141489 NEBL G>A	10	21141489	21141489	G	A	NEBL	c.993C>T	NM_006393.2	NP_006384.1:p.(Ala331=)	NC_000010.10:g.21141489G>A	(Likely) benign	1 lab	b9859571f7
22:40816502 MRTFA C>T	22	40816502	40816502	C	T	MRTFA	c.1260G>A	NM_020831.6	NP_065882.2:p.(Ser420=)	NC_000022.10:g.40816502C>T	(Likely) benign	1 lab	b988d7798f
2:152518847 NEB G>A	2	152518847	152518847	G	A	NEB	c.5772C>T	NM_001271208.1	NP_001258137.1:p.(Tyr1924=)	NC_000002.11:g.152518847G>A	(Likely) benign	1 lab	b995eeeed4
22:20786263 SCARF2 G>C	22	20786263	20786263	G	C	SCARF2	c.186C>G	NM_153334.7	NP_699165.3:p.(Pro62=)	NC_000022.10:g.20786263G>C	(Likely) benign	1 lab	b998c70661
1:63836433 ALG6 T>C	1	63836433	63836433	T	C	ALG6	c.-207-9T>C	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63836433T>C	(Likely) benign	1 lab	b9a1a4ba7e
2:202494336 TMEM237 A>G	2	202494336	202494336	A	G	TMEM237	c.653+116T>C	NM_152388.4	NP_689601.2:p.?	NC_000002.11:g.202494336A>G	(Likely) benign	1 lab	b9a3e5400a
8:143960439 CYP11B1 G>A	8	143960439	143960439	G	A	CYP11B1	c.395+9C>T	NM_000497.3	NP_000488.3:p.?	NC_000008.10:g.143960439G>A	(Likely) benign	1 lab	b9acdb0f95
7:147844862 CNTNAP2 C>T	7	147844862	147844862	C	T	CNTNAP2	c.2773+61C>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147844862C>T	(Likely) benign	1 lab	b9ae496538
2:175614908 CHRNA1 CAAA>C	2	175614908	175614925	CAAA	C	CHRNA1	c.779-14_779-12del	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175614923_175614925del	(Likely) benign	1 lab	b9ae5086be
14:24632737 IRF9 C>G	14	24632737	24632737	C	G	IRF9	c.495+20C>G	NM_006084.5	NP_006075.3:p.?	NC_000014.8:g.24632737C>G	(Likely) benign	1 lab	b9b0059888
8:41580906 ANK1 G>A	8	41580906	41580906	G	A	ANK1	c.810+147C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41580906G>A	(Likely) benign	1 lab	b9b2e57ffd
1:12032956 PLOD1 C>T	1	12032956	12032956	C	T	PLOD1	c.2071C>T	NM_001316320.2	NP_001303249.1:p.(Arg691Cys)	NC_000001.10:g.12032956C>T	VUS	1 lab	b9b55c33f3
3:175181200 NAALADL2 G>A	3	175181200	175181200	G	A	NAALADL2	c.1246G>A	NM_207015.3	NP_996898.2:p.(Val416Ile)	NC_000003.11:g.175181200G>A	(Likely) benign	1 lab	b9b7fb6a18
5:180043441 FLT4 C>T	5	180043441	180043441	C	T	FLT4	c.3145G>A	NM_182925.5	NP_891555.2:p.(Asp1049Asn)	NC_000005.9:g.180043441C>T	(Likely) benign	1 lab	b9c2f9fa94
18:33837053 MOCOS C>T	18	33837053	33837053	C	T	MOCOS	c.2270+17C>T	NM_017947.4	NP_060417.4:p.?	NC_000018.9:g.33837053C>T	(Likely) benign	1 lab	b9c54b6bc3
16:4780077 ANKS3 C>T	16	4780077	4780077	C	T	ANKS3	c.74G>A	NM_133450.4	NP_597707.1:p.(Gly25Glu)	NC_000016.9:g.4780077C>T	(Likely) benign	1 lab	b9c8a869cf
2:189859432 COL3A1 A>G	2	189859432	189859432	A	G	COL3A1	c.1348-18A>G	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189859432A>G	(Likely) benign	1 lab	b9cb514304
3:38597161 SCN5A T>TGGGCTTCTG	3	38597161	38597178	T	TGGGCTTCTG	SCN5A	c.4519_4527dup	NM_198056.2	NP_932173.1:p.(Gln1507_Pro1509dup)	NC_000003.11:g.38597170_38597178dup	VUS	1 lab	b9ccf780a9
19:50370332 PNKP G>T	19	50370332	50370332	G	T	PNKP	c.130C>A	NM_007254.4	NP_009185.2:p.(Arg44=)	NC_000019.9:g.50370332G>T	(Likely) benign	1 lab	b9d2effaed
1:41475187 CTPS1 A>G	1	41475187	41475187	A	G	CTPS1	c.1617A>G	NM_001905.4	NP_001896.2:p.(Pro539=)	NC_000001.10:g.41475187A>G	(Likely) benign	1 lab	b9d3604ed3
8:61765271 CHD7 T>C	8	61765271	61765271	T	C	CHD7				NC_000008.10:g.61765271T>C	(Likely) benign	1 lab	b9d60ebd41
15:40703542 IVD G>A	15	40703542	40703542	G	A	IVD	c.540G>A	NM_002225.5	NP_002216.3:p.(Ala180=)	NC_000015.9:g.40703542G>A	(Likely) benign	1 lab	b9d67cdf55
16:70305734 AARS1 G>A	16	70305734	70305734	G	A	AARS1	c.621C>T	NM_001605.2	NP_001596.2:p.(Asp207=)	NC_000016.9:g.70305734G>A	(Likely) benign	1 lab	b9d8ffbc7b
16:2154573 PKD1 A>G	16	2154573	2154573	A	G	PKD1	c.8087T>C	NM_001009944.2	NP_001009944.2:p.(Leu2696Pro)	NC_000016.9:g.2154573A>G	(Likely) benign	1 lab	b9dd23aaa0
16:23226415 SCNN1G G>A	16	23226415	23226415	G	A	SCNN1G	c.1575G>A	NM_001039.4	NP_001030.2:p.(Glu525=)	NC_000016.9:g.23226415G>A	(Likely) benign	1 lab	b9dd9d9714
11:89774197 TRIM49C CTTT>C	11	89774197	89774214	CTTT	C	TRIM49C	c.860-7_860-5del	NM_001195234.1	NP_001182163.1:p.?	NC_000011.9:g.89774212_89774214del	(Likely) benign	1 lab	b9e4965a9d
14:23858708 MYH6 C>T	14	23858708	23858708	C	T	MYH6	c.3872G>A	NM_002471.4	NP_002462.2:p.(Arg1291Gln)	NC_000014.8:g.23858708C>T	VUS	1 lab	d663a5224c
17:5462358 NLRP1 T>C	17	5462358	5462358	T	C	NLRP1	c.1658A>G	NM_033004.4	NP_127497.1:p.(His553Arg)	NC_000017.10:g.5462358T>C	(Likely) benign	1 lab	b9ed7d7e14
1:160313733 NCSTN C>A	1	160313733	160313733	C	A	NCSTN	c.85+462C>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160313733C>A	(Likely) benign	1 lab	b9f2f39aca
10:119805684 RAB11FIP2 T>C	10	119805684	119805684	T	C	RAB11FIP2	c.-10A>G	NM_014904.3	NP_055719.1:p.?	NC_000010.10:g.119805684T>C	VUS	1 lab	b9f387309c
3:9976215 CRELD1 C>T	3	9976215	9976215	C	T	CRELD1	c.93C>T	NM_015513.6	NP_056328.3:p.(Pro31=)	NC_000003.11:g.9976215C>T	(Likely) benign	1 lab	b9f5188e8a
4:39233501 WDR19 G>A	4	39233501	39233501	G	A	WDR19	c.2067G>A	NM_025132.4	NP_079408.3:p.(Met689Ile)	NC_000004.11:g.39233501G>A	VUS	1 lab	da2c05764c
X:32404497 DMD G>A	X	32404497	32404497	G	A	DMD	c.4235C>T	NM_004010.3	NP_004001.1:p.(Thr1412Met)	NC_000023.10:g.32404497G>A	VUS	1 lab	b9fad93efb
7:40041486 CDK13 C>T	7	40041486	40041486	C	T	CDK13	c.2209C>T	NM_003718.4	NP_003709.3:p.(Arg737Cys)	NC_000007.13:g.40041486C>T	(Likely) pathogenic	1 lab	b9fc9c5b12
10:119768475 RAB11FIP2 T>C	10	119768475	119768475	T	C	RAB11FIP2	c.*34A>G	NM_014904.3	NP_055719.1:p.?	NC_000010.10:g.119768475T>C	VUS	1 lab	b9ff758f90
6:161152257 PLG C>T	6	161152257	161152257	C	T	PLG	c.1431C>T	NM_000301.3	NP_000292.1:p.(Ser477=)	NC_000006.11:g.161152257C>T	(Likely) benign	1 lab	ba11d82a11
8:61754630 CHD7 G>A	8	61754630	61754630	G	A	CHD7				NC_000008.10:g.61754630G>A	(Likely) benign	1 lab	ba1a95bd43
19:18995036 CERS1 G>A	19	18995036	18995036	G	A	CERS1	c.450C>T	NM_021267.5	NP_067090.1:p.(Ala150=)	NC_000019.9:g.18995036G>A	(Likely) benign	1 lab	ba1ce885d4
1:201333442 TNNT2 C>T	1	201333442	201333442	C	T	TNNT2	c.443G>A	NM_001276347.2	NP_001263276.1:p.(Arg148Gln)	NC_000001.10:g.201333442C>T	(Likely) pathogenic	1 lab	ba1eae2036
1:247587665 NLRP3 T>C	1	247587665	247587665	T	C	NLRP3	c.914T>C	NM_001243133.2	NP_001230062.1:p.(Leu305Pro)	NC_000001.10:g.247587665T>C	(Likely) pathogenic	1 lab	ba245c7ab4
15:73615638 HCN4 G>A	15	73615638	73615638	G	A	HCN4	c.2796C>T	NM_005477.3	NP_005468.1:p.(Gly932=)	NC_000015.9:g.73615638G>A	VUS	1 lab	ba2aa4fb3d
1:160275479 COPA G>A	1	160275479	160275479	G	A	COPA	c.1527C>T	NM_004371.4	NP_004362.2:p.(His509=)	NC_000001.10:g.160275479G>A	(Likely) benign	1 lab	ba2c476141
3:47446502 PTPN23 ATCT>A	3	47446502	47446508	ATCT	A	PTPN23	c.299_301del	NM_015466.4	NP_056281.1:p.(Phe100del)	NC_000003.11:g.47446506_47446508del	VUS	1 lab	ba3345ebdd
6:45390639 RUNX2 G>A	6	45390639	45390639	G	A	RUNX2	c.368G>A	NM_001024630.4	NP_001019801.3:p.(Cys123Tyr)	NC_000006.11:g.45390639G>A	(Likely) pathogenic	1 lab	ba33af18cc
2:152737472 CACNB4 G>A	2	152737472	152737472	G	A	CACNB4	c.166-36C>T	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152737472G>A	(Likely) benign	1 lab	ba355cd7c1
15:64687694 TRIP4 G>A	15	64687694	64687694	G	A	TRIP4	c.369G>A	NM_016213.5	NP_057297.2:p.(Thr123=)	NC_000015.9:g.64687694G>A	(Likely) benign	1 lab	ba3696fbc7
8:100454477 VPS13B A>G	8	100454477	100454477	A	G	VPS13B	c.3211-152A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100454477A>G	(Likely) benign	1 lab	ba3e96ec60
9:139265088 CARD9 C>T	9	139265088	139265088	C	T	CARD9	c.693G>A	NM_052813.4	NP_434700.2:p.(Thr231=)	NC_000009.11:g.139265088C>T	(Likely) benign	1 lab	ba4020dbc5
14:55510305 SOCS4 A>G	14	55510305	55510305	A	G	SOCS4	c.546A>G	NM_199421.2	NP_955453.1:p.(Glu182=)	NC_000014.8:g.55510305A>G	(Likely) benign	1 lab	ba4d902650
5:90079811 ADGRV1 C>T	5	90079811	90079811	C	T	ADGRV1	c.13590C>T	NM_032119.4	NP_115495.3:p.(Pro4530=)	NC_000005.9:g.90079811C>T	(Likely) benign	1 lab	ba4e4612db
1:22191874 HSPG2 C>A	1	22191874	22191874	C	A	HSPG2	c.4315-16G>T	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22191874C>A	(Likely) benign	1 lab	ba4f5a8ada
11:22301410 ANO5 CTT>C	11	22301410	22301424	CTT	C	ANO5	c.*112_*113del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22301423_22301424del	(Likely) benign	1 lab	ba51a361ae
19:4817852 TICAM1 G>A	19	4817852	4817852	G	A	TICAM1	c.538C>T	NM_182919.3	NP_891549.1:p.(Arg180Cys)	NC_000019.9:g.4817852G>A	(Likely) benign	1 lab	ba534ce3b4
10:97443073 TCTN3 C>T	10	97443073	97443073	C	T	TCTN3	c.1204-121G>A	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97443073C>T	(Likely) benign	1 lab	ba53dc91f6
4:10100782 WDR1 G>A	4	10100782	10100782	G	A	WDR1	c.230-19C>T	NM_017491.5	NP_059830.1:p.?	NC_000004.11:g.10100782G>A	(Likely) benign	1 lab	ba54b79d86
5:169502947 DOCK2 C>T	5	169502947	169502947	C	T	DOCK2	c.4729-4C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169502947C>T	(Likely) benign	1 lab	ba55127ec8
2:191850400 STAT1 A>C	2	191850400	191850400	A	C	STAT1	c.1222-14T>G	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191850400A>C	(Likely) benign	1 lab	ba56ad7461
17:48158680 ITGA3 A>G	17	48158680	48158680	A	G	ITGA3	c.2827A>G	NM_002204.4	NP_002195.1:p.(Arg943Gly)	NC_000017.10:g.48158680A>G	(Likely) benign	1 lab	d66787b5c0
2:166897989 SCN1A GAA>G	2	166897989	166898003	GAA	G	SCN1A	c.2177-12_2177-11del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166898002_166898003del	(Likely) benign	1 lab	ba5c3a7195
5:71495621 MAP1B C>T	5	71495621	71495621	C	T	MAP1B	c.6439C>T	NM_005909.5	NP_005900.2:p.(Pro2147Ser)	NC_000005.9:g.71495621C>T	VUS	1 lab	d66e0138c2
20:62055739 KCNQ2 C>T	20	62055739	62055739	C	T	KCNQ2	c.1218-180G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62055739C>T	VUS	1 lab	bb9848cc1c
22:29083935 CHEK2 C>G	22	29083935	29083935	C	G	CHEK2	c.1582G>C	NM_007194.4	NP_009125.1:p.(Glu528Gln)	NC_000022.10:g.29083935C>G	VUS	1 lab	ba60c069e2
10:96028632 PLCE1 G>A	10	96028632	96028632	G	A	PLCE1	c.4282-54G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96028632G>A	(Likely) benign	1 lab	ba60d181a4
4:79420869 FRAS1 C>T	4	79420869	79420869	C	T	FRAS1	c.9116-6C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420869C>T	(Likely) benign	1 lab	ba63437f16
X:107977918 IRS4 C>T	X	107977918	107977918	C	T	IRS4	c.1657G>A	NM_003604.2	NP_003595.1:p.(Ala553Thr)	NC_000023.10:g.107977918C>T	(Likely) benign	1 lab	ba6377ae28
6:51938345 PKHD1 TGAA>T	6	51938345	51938354	TGAA	T	PKHD1	c.449-9_449-7del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51938352_51938354del	(Likely) benign	1 lab	ba66bb2161
7:151372596 PRKAG2 C>CG	7	151372596	151372603	C	CG	PRKAG2	c.593dup	NM_016203.4	NP_057287.2:p.(Asp199GlyfsTer74)	NC_000007.13:g.151372603dup	VUS	1 lab	ba6bdd7541
1:201331028 TNNT2 T>C	1	201331028	201331028	T	C	TNNT2	c.689+13A>G	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331028T>C	(Likely) benign	1 lab	ba6d0fbd1c
11:88068256 CTSC G>T	11	88068256	88068256	G	T	CTSC	c.173-6C>A	NM_001814.4	NP_001805.3:p.?	NC_000011.9:g.88068256G>T	(Likely) benign	1 lab	ba6e153db1
16:3293365 MEFV G>A	16	3293365	3293365	G	A	MEFV	c.2122C>T	NM_000243.2	NP_000234.1:p.(Arg708Cys)	NC_000016.9:g.3293365G>A	VUS	1 lab	ba7554f2be
16:3778716 CREBBP T>C	16	3778716	3778716	T	C	CREBBP	c.6332A>G	NM_004380.3	NP_004371.2:p.(Asn2111Ser)	NC_000016.9:g.3778716T>C	(Likely) benign	1 lab	ba7954dde9
14:102467847 DYNC1H1 A>G	14	102467847	102467847	A	G	DYNC1H1	c.4396-25A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102467847A>G	(Likely) benign	1 lab	ba7b33888b
1:228482059 OBSCN G>A	1	228482059	228482059	G	A	OBSCN	c.11338G>A	NM_001098623.2	NP_001092093.2:p.(Gly3780Arg)	NC_000001.10:g.228482059G>A	(Likely) benign	1 lab	ba7d0ac15b
2:179640063 TTN A>G	2	179640063	179640063	A	G	TTN	c.6508+20T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179640063A>G	(Likely) benign	1 lab	ba823ec192
4:83350596 HNRNPDL G>A	4	83350596	83350596	G	A	HNRNPDL	c.248C>T	NM_031372.3	NP_112740.1:p.(Pro83Leu)	NC_000004.11:g.83350596G>A	(Likely) benign	1 lab	ba8a65133b
2:166731160 TTC21B C>T	2	166731160	166731160	C	T	TTC21B	c.*105G>A	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166731160C>T	(Likely) benign	1 lab	ba8d0cf7aa
22:35777201 HMOX1 G>GCGCGGGA	22	35777201	35777217	G	GCGCGGGA	HMOX1	c.23+22_23+28dup	NM_002133.3	NP_002124.1:p.?	NC_000022.10:g.35777211_35777217dup	(Likely) benign	1 lab	ba8d6dadb5
7:135277928 NUP205 C>T	7	135277928	135277928	C	T	NUP205	c.1818C>T	NM_015135.2	NP_055950.1:p.(Thr606=)	NC_000007.13:g.135277928C>T	(Likely) benign	1 lab	ba8e9c0ff8
6:35287637 DEF6 A>T	6	35287637	35287637	A	T	DEF6	c.1424A>T	NM_022047.4	NP_071330.3:p.(Gln475Leu)	NC_000006.11:g.35287637A>T	(Likely) benign	1 lab	ba90a600e9
7:98800721 KPNA7 A>G	7	98800721	98800721	A	G	KPNA7	c.201+8T>C	NM_001145715.2	NP_001139187.1:p.?	NC_000007.13:g.98800721A>G	(Likely) benign	1 lab	ba94cb3ab0
20:60895900 LAMA5 G>A	20	60895900	60895900	G	A	LAMA5	c.6543C>T	NM_005560.4	NP_005551.3:p.(Ala2181=)	NC_000020.10:g.60895900G>A	(Likely) benign	1 lab	ba95c8eb42
2:228154765 COL4A3 C>T	2	228154765	228154765	C	T	COL4A3	c.3031C>T	NM_000091.4	NP_000082.2:p.(Arg1011Cys)	NC_000002.11:g.228154765C>T	(Likely) benign	1 lab	ba9614e5d2
1:247588465 NLRP3 A>T	1	247588465	247588465	A	T	NLRP3	c.1714A>T	NM_001243133.2	NP_001230062.1:p.(Ile572Phe)	NC_000001.10:g.247588465A>T	(Likely) pathogenic	1 lab	ba992ea7bc
11:101342136 TRPC6 C>T	11	101342136	101342136	C	T	TRPC6	c.2206-19G>A	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101342136C>T	(Likely) benign	1 lab	ba9e5969d0
1:161518333 FCGR3A A>T	1	161518333	161518333	A	T	FCGR3A	c.512T>A	NM_000569.7	NP_000560.6:p.(Leu171His)	NC_000001.10:g.161518333A>T	(Likely) benign	1 lab	ba9e6977eb
8:133198856 KCNQ3 G>A	8	133198856	133198856	G	A	KCNQ3	c.387-428C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133198856G>A	(Likely) benign	1 lab	baa0f35047
6:149721690 TAB2 G>A	6	149721690	149721690	G	A	TAB2	c.1939+1370G>A	NM_015093.5	NP_055908.1:p.?	NC_000006.11:g.149721690G>A	(Likely) benign	1 lab	baa125722c
5:11098866 CTNND2 G>A	5	11098866	11098866	G	A	CTNND2	c.2464-6C>T	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11098866G>A	(Likely) benign	1 lab	baa6cbf9b4
19:50370494 PNKP G>A	19	50370494	50370494	G	A	PNKP	c.-13-20C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50370494G>A	(Likely) benign	1 lab	baabb91dd4
1:6278414 RNF207 A>G	1	6278414	6278414	A	G	RNF207	c.1718A>G	NM_207396.3	NP_997279.2:p.(Asn573Ser)	NC_000001.10:g.6278414A>G	(Likely) benign	1 lab	babd44012a
10:104835908 CNNM2 C>T	10	104835908	104835908	C	T	CNNM2	c.2299C>T	NM_017649.5	NP_060119.3:p.(Arg767Trp)	NC_000010.10:g.104835908C>T	VUS	1 lab	d66f5fcb34
19:13355924 CACNA1A C>T	19	13355924	13355924	C	T	CACNA1A	c.4962+72G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13355924C>T	(Likely) benign	1 lab	bac1ed125a
17:73726590 ITGB4 G>A	17	73726590	73726590	G	A	ITGB4	c.1002+5G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73726590G>A	VUS	1 lab	d67289fef5
19:54308518 NLRP12 G>A	19	54308518	54308518	G	A	NLRP12	c.2414+16C>T	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54308518G>A	(Likely) benign	1 lab	bacc8f0e37
15:80460630 FAH G>A	15	80460630	80460630	G	A	FAH	c.578G>A	NM_000137.4	NP_000128.1:p.(Cys193Tyr)	NC_000015.9:g.80460630G>A	(Likely) pathogenic	1 lab	bacd599973
1:206634853 MISSING A>C	1	206634853	206634853	A	C	MISSING				NC_000001.10:g.206634853A>C	VUS	1 lab	bad0adf1f4
22:17662214 ADA2 C>CT	22	17662214	17662215	C	CT	ADA2	c.*158_*159insA	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17662214_17662215insT	(Likely) benign	1 lab	bada6fd808
4:187542780 FAT1 G>A	4	187542780	187542780	G	A	FAT1	c.4960C>T	NM_005245.4	NP_005236.2:p.(Arg1654Cys)	NC_000004.11:g.187542780G>A	VUS	1 lab	badc6dab2a
19:13325164 CACNA1A G>A	19	13325164	13325164	G	A	CACNA1A	c.5858-17C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325164G>A	(Likely) benign	1 lab	badebac567
12:15734725 PTPRO G>A	12	15734725	15734725	G	A	PTPRO	c.3245G>A	NM_030667.3	NP_109592.1:p.(Arg1082Gln)	NC_000012.11:g.15734725G>A	(Likely) benign	1 lab	badf6aea8d
1:22190686 HSPG2 C>T	1	22190686	22190686	C	T	HSPG2	c.4647G>A	NM_005529.6	NP_005520.4:p.(Thr1549=)	NC_000001.10:g.22190686C>T	(Likely) benign	1 lab	bae4243758
9:111641037 ELP1 G>C	9	111641037	111641037	G	C	ELP1	c.3573-7C>G	NM_003640.3	NP_003631.2:p.?	NC_000009.11:g.111641037G>C	(Likely) benign	1 lab	bae81017d8
11:88070751 CTSC G>A	11	88070751	88070751	G	A	CTSC	c.90C>T	NM_001814.4	NP_001805.3:p.(Cys30=)	NC_000011.9:g.88070751G>A	(Likely) benign	1 lab	bae9fa7ae0
1:207641950 CR2 C>T	1	207641950	207641950	C	T	CR2	c.524C>T	NM_001006658.2	NP_001006659.1:p.(Pro175Leu)	NC_000001.10:g.207641950C>T	(Likely) benign	1 lab	baed7d1740
16:50746294 NOD2 A>C	16	50746294	50746294	A	C	NOD2	c.2462+10A>C	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50746294A>C	(Likely) benign	1 lab	baedcf28dc
4:87024234 MAPK10 G>A	4	87024234	87024234	G	A	MAPK10	c.425+105C>T	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.87024234G>A	(Likely) benign	1 lab	baefd43ccd
20:57485403 GNAS G>T	20	57485403	57485403	G	T	GNAS	c.2914G>T	NM_080425.3	NP_536350.2:p.(Gly972Ter)	NC_000020.10:g.57485403G>T	(Likely) pathogenic	1 lab	baf0da0e2e
2:228131759 COL4A3 G>A	2	228131759	228131759	G	A	COL4A3	c.1459G>A	NM_000091.4	NP_000082.2:p.(Gly487Ser)	NC_000002.11:g.228131759G>A	VUS	1 lab	baf301327a
1:207647249 CR2 A>G	1	207647249	207647249	A	G	CR2	c.2240+19A>G	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207647249A>G	(Likely) benign	1 lab	baf6d06a6e
2:189872198 COL3A1 G>A	2	189872198	189872198	G	A	COL3A1	c.3256-28G>A	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189872198G>A	(Likely) benign	1 lab	baf76cd635
16:1521582 CLCN7 C>A	16	1521582	1521582	C	A	CLCN7	c.141+3253G>T	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1521582C>A	VUS	1 lab	d69652174f
16:28947531 CD19 A>G	16	28947531	28947531	A	G	CD19	c.995+9A>G	NM_001770.5	NP_001761.3:p.?	NC_000016.9:g.28947531A>G	(Likely) benign	1 lab	bafb412fdf
X:77126440 MAGT1 C>T	X	77126440	77126440	C	T	MAGT1	c.369-18G>A	NM_032121.5	NP_115497.4:p.?	NC_000023.10:g.77126440C>T	(Likely) benign	1 lab	bafbf8fe29
X:3229525 MXRA5 A>G	X	3229525	3229525	A	G	MXRA5	c.6719T>C	NM_015419.4	NP_056234.2:p.(Met2240Thr)	NC_000023.10:g.3229525A>G	(Likely) benign	1 lab	bafc1d69b5
9:32973607 APTX T>C	9	32973607	32973607	T	C	APTX	c.918A>G	NM_001195249.1	NP_001182178.1:p.(Arg306=)	NC_000009.11:g.32973607T>C	(Likely) benign	1 lab	bafe372504
4:149356352 NR3C2 T>C	4	149356352	149356352	T	C	NR3C2	c.1661A>G	NM_000901.5	NP_000892.2:p.(Asn554Ser)	NC_000004.11:g.149356352T>C	(Likely) benign	1 lab	baff3f9214
17:39915023 JUP T>C	17	39915023	39915023	T	C	JUP	c.1597A>G	NM_002230.2	NP_002221.1:p.(Lys533Glu)	NC_000017.10:g.39915023T>C	VUS	1 lab	bb0010d038
14:24631440 IRF9 C>T	14	24631440	24631440	C	T	IRF9	c.87C>T	NM_006084.5	NP_006075.3:p.(Cys29=)	NC_000014.8:g.24631440C>T	(Likely) benign	1 lab	bb001dc13f
5:125885891 ALDH7A1 A>AC	5	125885891	125885892	A	AC	ALDH7A1	c.1411_1412insG	NM_001182.5	NP_001173.2:p.(Leu471ArgfsTer4)	NC_000005.9:g.125885891_125885892insC	VUS	1 lab	bb02a0333d
9:108377580 FKTN G>T	9	108377580	108377580	G	T	FKTN	c.802G>T	NM_001079802.1	NP_001073270.1:p.(Val268Leu)	NC_000009.11:g.108377580G>T	(Likely) benign	1 lab	bb09cbbb30
22:23915575 IGLL1 C>T	22	23915575	23915575	C	T	IGLL1				NC_000022.10:g.23915575C>T	(Likely) benign	1 lab	bb0ab63972
2:96780716 ADRA2B T>G	2	96780716	96780716	T	G	ADRA2B	c.1182A>C	NM_000682.7	NP_000673.2:p.(Gly394=)	NC_000002.11:g.96780716T>G	(Likely) benign	1 lab	d6731443fe
16:67680664 CARMIL2 C>G	16	67680664	67680664	C	G	CARMIL2	c.514C>G	NM_001013838.3	NP_001013860.1:p.(Pro172Ala)	NC_000016.9:g.67680664C>G	VUS	1 lab	d676d313d1
16:1256131 CACNA1H C>T	16	1256131	1256131	C	T	CACNA1H	c.2631C>T	NM_021098.3	NP_066921.2:p.(Asp877=)	NC_000016.9:g.1256131C>T	(Likely) benign	1 lab	bb0db275b2
8:41583441 ANK1 T>C	8	41583441	41583441	T	C	ANK1	c.450A>G	NM_000037.4	NP_000028.3:p.(Val150=)	NC_000008.10:g.41583441T>C	(Likely) benign	1 lab	bb1ccac342
10:97371129 ALDH18A1 C>A	10	97371129	97371129	C	A	ALDH18A1	c.1994G>T	NM_002860.4	NP_002851.2:p.(Arg665Leu)	NC_000010.10:g.97371129C>A	(Likely) pathogenic	1 lab	bb1ea0d67e
2:50724843 NRXN1 G>A	2	50724843	50724843	G	A	NRXN1	c.2507C>T	NM_004801.5	NP_004792.1:p.(Ala836Val)	NC_000002.11:g.50724843G>A	(Likely) benign	1 lab	bb260a305f
2:110935924 NPHP1 G>A	2	110935924	110935924	G	A	NPHP1	c.329+76C>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110935924G>A	(Likely) benign	1 lab	bb278b72e3
12:52760957 KRT85 C>T	12	52760957	52760957	C	T	KRT85	c.233G>A	NM_002283.4	NP_002274.1:p.(Arg78His)	NC_000012.11:g.52760957C>T	(Likely) benign	1 lab	d67a740050
1:204125054 REN G>T	1	204125054	204125054	G	T	REN	c.961-8C>A	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204125054G>T	(Likely) benign	1 lab	bb33f83782
X:37660492 CYBB T>A	X	37660492	37660492	T	A	CYBB	c.805-17T>A	NM_000397.3	NP_000388.2:p.?	NC_000023.10:g.37660492T>A	(Likely) benign	1 lab	bb33fe7966
10:75673417 PLAU C>T	10	75673417	75673417	C	T	PLAU	c.581C>T	NM_002658.3	NP_002649.1:p.(Ala194Val)	NC_000010.10:g.75673417C>T	(Likely) benign	1 lab	bb33ff7223
16:56782347 NUP93 T>G	16	56782347	56782347	T	G	NUP93	c.179+9T>G	NM_014669.5	NP_055484.3:p.?	NC_000016.9:g.56782347T>G	(Likely) benign	1 lab	bb342ec110
10:112590883 RBM20 C>T	10	112590883	112590883	C	T	RBM20	c.3516C>T	NM_001134363.1	NP_001127835.1:p.(Ser1172=)	NC_000010.10:g.112590883C>T	(Likely) benign	1 lab	bb3795e735
2:74605504 DCTN1 A>G	2	74605504	74605504	A	G	DCTN1	c.34-132T>C	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74605504A>G	(Likely) benign	1 lab	bb3a7640e0
X:21989965 SMS T>A	X	21989965	21989965	T	A	SMS	c.171-50T>A	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21989965T>A	(Likely) benign	1 lab	bbd84a05a2
2:178682603 PDE11A T>C	2	178682603	178682603	T	C	PDE11A	c.1626A>G	NM_016953.4	NP_058649.3:p.(Ala542=)	NC_000002.11:g.178682603T>C	(Likely) benign	1 lab	d67a90272e
17:41243522 BRCA1 T>G	17	41243522	41243522	T	G	BRCA1	c.4026A>C	NM_007294.3	NP_009225.1:p.(Ser1342=)	NC_000017.10:g.41243522T>G	(Likely) benign	1 lab	bb3e4b7171
17:44248353 KANSL1 C>A	17	44248353	44248353	C	A	KANSL1	c.1157G>T	NM_001193466.2	NP_001180395.1:p.(Ser386Ile)	NC_000017.10:g.44248353C>A	VUS	1 lab	d67f4fadcc
17:73205899 NUP85 T>C	17	73205899	73205899	T	C	NUP85	c.128-19T>C	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73205899T>C	(Likely) benign	1 lab	bb44856b50
6:7246902 RREB1 G>A	6	7246902	7246902	G	A	RREB1	c.4219G>A	NM_001003699.4	NP_001003699.1:p.(Glu1407Lys)	NC_000006.11:g.7246902G>A	VUS	1 lab	d681303f3b
16:3293424 MEFV T>C	16	3293424	3293424	T	C	MEFV	c.2063A>G	NM_000243.2	NP_000234.1:p.(Tyr688Cys)	NC_000016.9:g.3293424T>C	(Likely) pathogenic	1 lab	bb463489d2
13:20567684 ZMYM2 TC>T	13	20567684	20567686	TC	T	ZMYM2	c.474del	NM_197968.4	NP_932072.1:p.(Ser159ValfsTer7)	NC_000013.10:g.20567686del	(Likely) pathogenic	1 lab	bb48cb69f4
1:247588460 NLRP3 A>T	1	247588460	247588460	A	T	NLRP3	c.1709A>T	NM_001243133.2	NP_001230062.1:p.(Tyr570Phe)	NC_000001.10:g.247588460A>T	(Likely) pathogenic	1 lab	bb4986ba4b
6:32821365 TAP1 C>G	6	32821365	32821365	C	G	TAP1	c.229G>C	NM_000593.5	NP_000584.2:p.(Gly77Arg)	NC_000006.11:g.32821365C>G	(Likely) benign	1 lab	bb4ef8054f
19:4099300 MAP2K2 T>C	19	4099300	4099300	T	C	MAP2K2	c.818A>G	NM_030662.3	NP_109587.1:p.(Lys273Arg)	NC_000019.9:g.4099300T>C	(Likely) benign	1 lab	bb4f67b959
9:130578100 ENG G>A	9	130578100	130578100	G	A	ENG	c.*96C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130578100G>A	(Likely) benign	1 lab	bb501de606
10:72358172 PRF1 C>T	10	72358172	72358172	C	T	PRF1	c.1305G>A	NM_001083116.1	NP_001076585.1:p.(Thr435=)	NC_000010.10:g.72358172C>T	(Likely) benign	1 lab	bb527ec9c5
1:237617717 RYR2 C>T	1	237617717	237617717	C	T	RYR2	c.1319C>T	NM_001035.3	NP_001026.2:p.(Ala440Val)	NC_000001.10:g.237617717C>T	(Likely) benign	1 lab	bb53306052
18:32345933 DTNA G>A	18	32345933	32345933	G	A	DTNA	c.76G>A	NM_001390.4	NP_001381.2:p.(Asp26Asn)	NC_000018.9:g.32345933G>A	VUS	1 lab	d681b9cab9
5:14184079 TRIO G>A	5	14184079	14184079	G	A	TRIO	c.157+40088G>A	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14184079G>A	(Likely) benign	1 lab	d685d0da8d
14:23896934 MYH7 G>A	14	23896934	23896934	G	A	MYH7	c.1748C>T	NM_000257.2	NP_000248.2:p.(Ala583Val)	NC_000014.8:g.23896934G>A	(Likely) pathogenic	1 lab	bb5ce4ecd0
8:2005611 MYOM2 G>A	8	2005611	2005611	G	A	MYOM2	c.402+7G>A	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2005611G>A	(Likely) benign	1 lab	bb5db10805
1:158654786 SPTA1 C>T	1	158654786	158654786	C	T	SPTA1	c.264+112G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158654786C>T	(Likely) benign	1 lab	bb625dc4ad
10:16975243 CUBN C>G	10	16975243	16975243	C	G	CUBN	c.5967G>C	NM_001081.3	NP_001072.2:p.(Val1989=)	NC_000010.10:g.16975243C>G	(Likely) benign	1 lab	bb65a997a2
15:63353154 TPM1 G>A	15	63353154	63353154	G	A	TPM1	c.563+16G>A	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63353154G>A	(Likely) benign	1 lab	bb692fccc1
3:129195610 IFT122 C>T	3	129195610	129195610	C	T	IFT122	c.1266C>T	NM_052985.4	NP_443711.2:p.(Asp422=)	NC_000003.11:g.129195610C>T	(Likely) benign	1 lab	bb6d816cbf
19:52249947 FPR1 C>T	19	52249947	52249947	C	T	FPR1	c.301G>A	NM_002029.3	NP_002020.1:p.(Val101Ile)	NC_000019.9:g.52249947C>T	(Likely) benign	1 lab	bb6e0dfdee
16:3304435 MEFV C>T	16	3304435	3304435	C	T	MEFV	c.633G>A	NM_000243.2	NP_000234.1:p.(Gly211=)	NC_000016.9:g.3304435C>T	(Likely) benign	1 lab	bb701f4e51
2:217311880 SMARCAL1 G>T	2	217311880	217311880	G	T	SMARCAL1	c.1850G>T	NM_014140.3	NP_054859.2:p.(Arg617Leu)	NC_000002.11:g.217311880G>T	(Likely) benign	1 lab	bb73d96ba8
5:14482786 TRIO C>T	5	14482786	14482786	C	T	TRIO	c.6561C>T	NM_007118.4	NP_009049.2:p.(Arg2187=)	NC_000005.9:g.14482786C>T	(Likely) benign	1 lab	bb745a3760
4:9828099 SLC2A9 G>A	4	9828099	9828099	G	A	SLC2A9	c.1545C>T	NM_020041.3	NP_064425.2:p.(Ser515=)	NC_000004.11:g.9828099G>A	(Likely) benign	1 lab	bb818efad3
11:62397965 GANAB C>T	11	62397965	62397965	C	T	GANAB	c.1465G>A	NM_198335.4	NP_938149.2:p.(Val489Ile)	NC_000011.9:g.62397965C>T	(Likely) benign	1 lab	bb902d0957
1:206575041 MISSING C>T	1	206575041	206575041	C	T	MISSING				NC_000001.10:g.206575041C>T	(Likely) benign	1 lab	bb938f6ec8
17:42453065 ITGA2B A>C	17	42453065	42453065	A	C	ITGA2B	c.2621T>G	NM_000419.3	NP_000410.2:p.(Ile874Ser)	NC_000017.10:g.42453065A>C	(Likely) benign	1 lab	bb976aa5ef
1:158648490 SPTA1 T>C	1	158648490	158648490	T	C	SPTA1	c.679-166A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158648490T>C	(Likely) benign	1 lab	bb9a8e0694
4:157999090 GLRB A>G	4	157999090	157999090	A	G	GLRB	c.-29-58A>G	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.157999090A>G	(Likely) benign	1 lab	bb9fdaec64
5:137211651 MYOT A>C	5	137211651	137211651	A	C	MYOT	c.490A>C	NM_006790.2	NP_006781.1:p.(Lys164Gln)	NC_000005.9:g.137211651A>C	VUS	1 lab	bba09360f3
17:37822158 TCAP C>T	17	37822158	37822158	C	T	TCAP	c.300C>T	NM_003673.3	NP_003664.1:p.(Gly100=)	NC_000017.10:g.37822158C>T	(Likely) benign	1 lab	bba1287bb2
X:153296605 MECP2 G>C	X	153296605	153296605	G	C	MECP2	c.674C>G	NM_004992.3	NP_004983.1:p.(Pro225Arg)	NC_000023.10:g.153296605G>C	(Likely) pathogenic	1 lab	bba3ce23d0
21:46323263 ITGB2 C>T	21	46323263	46323263	C	T	ITGB2	c.499+17G>A	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46323263C>T	(Likely) benign	1 lab	bba4bd54b0
15:89869833 POLG C>T	15	89869833	89869833	C	T	POLG	c.1712+10G>A	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89869833C>T	(Likely) benign	1 lab	bba9a824d0
6:52288680 EFHC1 GT>G	6	52288680	52288690	GT	G	EFHC1	c.64-54del	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52288690del	(Likely) benign	1 lab	bbafd65dcc
1:113657466 LRIG2 G>A	1	113657466	113657466	G	A	LRIG2	c.2498G>A	NM_014813.2	NP_055628.1:p.(Arg833Lys)	NC_000001.10:g.113657466G>A	(Likely) benign	1 lab	bbb2e3bc19
6:33647676 ITPR3 C>T	6	33647676	33647676	C	T	ITPR3	c.3990C>T	NM_002224.3	NP_002215.2:p.(Asp1330=)	NC_000006.11:g.33647676C>T	(Likely) benign	1 lab	bbb32fa46e
8:95888349 INTS8 G>A	8	95888349	95888349	G	A	INTS8	c.2736G>A	NM_017864.4	NP_060334.2:p.(Ala912=)	NC_000008.10:g.95888349G>A	(Likely) benign	1 lab	bbb491a59a
18:25589764 CDH2 T>A	18	25589764	25589764	T	A	CDH2	c.619A>T	NM_001792.5	NP_001783.2:p.(Thr207Ser)	NC_000018.9:g.25589764T>A	VUS	1 lab	d68bce325f
19:40761174 AKT2 A>T	19	40761174	40761174	A	T	AKT2	c.178T>A	NM_001626.6	NP_001617.1:p.(Cys60Ser)	NC_000019.9:g.40761174A>T	VUS	1 lab	bbb994fc6e
X:70347209 MED12 G>A	X	70347209	70347209	G	A	MED12	c.2873G>A	NM_005120.3	NP_005111.2:p.(Gly958Glu)	NC_000023.10:g.70347209G>A	(Likely) pathogenic	1 lab	d68d0a4618
X:32360399 DMD C>A	X	32360399	32360399	C	A	DMD	c.5371G>T	NM_004010.3	NP_004001.1:p.(Glu1791Ter)	NC_000023.10:g.32360399C>A	VUS	1 lab	bc7dec4012
12:52307350 ACVRL1 A>C	12	52307350	52307350	A	C	ACVRL1	c.321A>C	NM_000020.2	NP_000011.2:p.(Gln107His)	NC_000012.11:g.52307350A>C	VUS	1 lab	bbc90f561b
13:32953717 BRCA2 A>G	13	32953717	32953717	A	G	BRCA2	c.8953+65A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953717A>G	(Likely) benign	1 lab	bbcd47ed15
11:126160869 TIRAP G>A	11	126160869	126160869	G	A	TIRAP	c.67+13G>A	NM_001039661.1	NP_001034750.1:p.?	NC_000011.9:g.126160869G>A	(Likely) benign	1 lab	bbd1dba3b6
X:154088816 F8 G>T	X	154088816	154088816	G	T	F8	c.6791C>A	NM_000132.3	NP_000123.1:p.(Thr2264Asn)	NC_000023.10:g.154088816G>T	(Likely) pathogenic	1 lab	bbd5d95127
2:166903356 SCN1A A>T	2	166903356	166903356	A	T	SCN1A	c.1301T>A	NM_001165963.3	NP_001159435.1:p.(Leu434Ter)	NC_000002.11:g.166903356A>T	(Likely) pathogenic	1 lab	bbdc76c0a4
4:156632391 GUCY1A1 A>G	4	156632391	156632391	A	G	GUCY1A1	c.1074A>G	NM_000856.6	NP_000847.2:p.(Lys358=)	NC_000004.11:g.156632391A>G	(Likely) benign	1 lab	bbde042c50
3:93769748 ARL13B G>C	3	93769748	93769748	G	C	ARL13B	c.1210+12G>C	NM_182896.3	NP_878899.1:p.?	NC_000003.11:g.93769748G>C	(Likely) benign	1 lab	bbe106218a
17:8138136 CTC1 C>T	17	8138136	8138136	C	T	CTC1	c.1548G>A	NM_025099.6	NP_079375.3:p.(Pro516=)	NC_000017.10:g.8138136C>T	(Likely) benign	1 lab	bbea763887
5:37162661 CPLANE1 T>C	5	37162661	37162661	T	C	CPLANE1	c.7596A>G	NM_023073.3	NP_075561.3:p.(Leu2532=)	NC_000005.9:g.37162661T>C	(Likely) benign	1 lab	bbeacb900c
16:3714378 TRAP1 C>T	16	3714378	3714378	C	T	TRAP1	c.1466G>A	NM_016292.3	NP_057376.2:p.(Arg489His)	NC_000016.9:g.3714378C>T	(Likely) benign	1 lab	bbf47d870e
16:53730170 RPGRIP1L T>C	16	53730170	53730170	T	C	RPGRIP1L	c.123A>G	NM_015272.5	NP_056087.2:p.(Ala41=)	NC_000016.9:g.53730170T>C	(Likely) benign	1 lab	bbf5ee2bbb
9:120475302 TLR4 A>G	9	120475302	120475302	A	G	TLR4	c.776A>G	NM_003266.4	NP_003257.1:p.(Asp259Gly)	NC_000009.11:g.120475302A>G	(Likely) benign	1 lab	bbf77bd644
9:131339539 SPTAN1 C>T	9	131339539	131339539	C	T	SPTAN1	c.917C>T	NM_001130438.2	NP_001123910.1:p.(Ala306Val)	NC_000009.11:g.131339539C>T	(Likely) pathogenic	1 lab	bbf9ecf197
20:61980953 CHRNA4 G>A	20	61980953	61980953	G	A	CHRNA4	c.1758+52C>T	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61980953G>A	(Likely) benign	1 lab	bc03d67d9f
11:118183445 CD3E T>C	11	118183445	118183445	T	C	CD3E	c.216T>C	NM_000733.3	NP_000724.1:p.(Asp72=)	NC_000011.9:g.118183445T>C	(Likely) benign	1 lab	bc07f631ea
8:100866540 VPS13B G>A	8	100866540	100866540	G	A	VPS13B	c.10942+56G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100866540G>A	(Likely) benign	1 lab	bc08903475
2:74594807 DCTN1 A>G	2	74594807	74594807	A	G	DCTN1	c.2184+16T>C	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74594807A>G	(Likely) benign	1 lab	bc0a4317da
16:2164758 PKD1 C>T	16	2164758	2164758	C	T	PKD1	c.2266G>A	NM_001009944.2	NP_001009944.2:p.(Ala756Thr)	NC_000016.9:g.2164758C>T	(Likely) benign	1 lab	bc0ad7e197
15:45658581 GATM T>G	15	45658581	45658581	T	G	GATM	c.801A>C	NM_001482.3	NP_001473.1:p.(Ala267=)	NC_000015.9:g.45658581T>G	(Likely) benign	1 lab	bc0b93b088
16:31309134 ITGAM A>T	16	31309134	31309134	A	T	ITGAM	c.1569A>T	NM_001145808.2	NP_001139280.1:p.(Ala523=)	NC_000016.9:g.31309134A>T	(Likely) benign	1 lab	bc12d265a4
6:49574531 RHAG C>T	6	49574531	49574531	C	T	RHAG	c.1212+30G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49574531C>T	(Likely) benign	1 lab	bc1670f128
16:30976489 SETD1A A>G	16	30976489	30976489	A	G	SETD1A	c.1426A>G	NM_014712.3	NP_055527.1:p.(Thr476Ala)	NC_000016.9:g.30976489A>G	VUS	1 lab	d697446eae
10:52912934 PRKG1 C>T	10	52912934	52912934	C	T	PRKG1	c.322C>T	NM_006258.4	NP_006249.1:p.(Leu108Phe)	NC_000010.10:g.52912934C>T	VUS	1 lab	bc19bbbbd8
13:39420971 FREM2 A>G	13	39420971	39420971	A	G	FREM2	c.6169+112A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39420971A>G	(Likely) benign	1 lab	bd59ac4a9b
5:7886759 MTRR ATGT>A	5	7886759	7886763	ATGT	A	MTRR	c.1091_1093del	NM_002454.3	NP_002445.2:p.(Cys364del)	NC_000005.9:g.7886761_7886763del	(Likely) benign	1 lab	bc2829483d
10:43622096 RET C>T	10	43622096	43622096	C	T	RET	c.3113C>T	NM_020975.4	NP_066124.1:p.(Thr1038Ile)	NC_000010.10:g.43622096C>T	VUS	1 lab	bc293baf4d
7:128478459 FLNC A>G	7	128478459	128478459	A	G	FLNC	c.1186A>G	NM_001458.5	NP_001449.3:p.(Thr396Ala)	NC_000007.13:g.128478459A>G	VUS	1 lab	d69da2ba26
16:1261963 CACNA1H C>T	16	1261963	1261963	C	T	CACNA1H	c.4584C>T	NM_021098.3	NP_066921.2:p.(Asn1528=)	NC_000016.9:g.1261963C>T	(Likely) benign	1 lab	bc3266377f
12:52200830 SCN8A C>T	12	52200830	52200830	C	T	SCN8A	c.5560C>T	NM_014191.4	NP_055006.1:p.(Arg1854Trp)	NC_000012.11:g.52200830C>T	VUS	1 lab	d6a102f2c6
17:76134078 TMC8 C>T	17	76134078	76134078	C	T	TMC8	c.1350-8C>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76134078C>T	(Likely) benign	1 lab	bc37932e49
17:78092444 GAA C>T	17	78092444	78092444	C	T	GAA	c.2647-8C>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78092444C>T	(Likely) benign	1 lab	bc3d318719
17:39925367 JUP G>A	17	39925367	39925367	G	A	JUP	c.561C>T	NM_021991.2	NP_068831.1:p.(Ala187=)	NC_000017.10:g.39925367G>A	(Likely) benign	1 lab	bc4877ae34
17:48154668 ITGA3 G>A	17	48154668	48154668	G	A	ITGA3	c.2071-75G>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48154668G>A	(Likely) benign	1 lab	bc4a119998
1:237801653 RYR2 G>A	1	237801653	237801653	G	A	RYR2	c.6793-4G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237801653G>A	(Likely) benign	1 lab	bc4bd7a699
19:1615792 TCF3 G>A	19	1615792	1615792	G	A	TCF3	c.1479C>T	NM_003200.5	NP_003191.1:p.(Ala493=)	NC_000019.9:g.1615792G>A	(Likely) benign	1 lab	bc50b32197
18:55317634 ATP8B1 G>A	18	55317634	55317634	G	A	ATP8B1	c.3496C>T	NM_005603.6	NP_005594.2:p.(Leu1166=)	NC_000018.9:g.55317634G>A	VUS	1 lab	bc559f6b24
2:166852549 SCN1A G>T	2	166852549	166852549	G	T	SCN1A	c.4555C>A	NM_001165963.3	NP_001159435.1:p.(Pro1519Thr)	NC_000002.11:g.166852549G>T	(Likely) pathogenic	1 lab	bc56153ad8
9:125154708 PTGS1 C>T	9	125154708	125154708	C	T	PTGS1	c.1685C>T	NM_000962.4	NP_000953.2:p.(Thr562Ile)	NC_000009.11:g.125154708C>T	(Likely) benign	1 lab	bc5647e366
14:65260244 SPTB G>A	14	65260244	65260244	G	A	SPTB	c.2137C>T	NM_001024858.3	NP_001020029.1:p.(Gln713Ter)	NC_000014.8:g.65260244G>A	(Likely) pathogenic	1 lab	bc564cb17a
12:110019270 MVK G>A	12	110019270	110019270	G	A	MVK	c.442G>A	NM_000431.2	NP_000422.1:p.(Ala148Thr)	NC_000012.11:g.110019270G>A	(Likely) pathogenic	1 lab	bc573e477f
2:179442849 TTN A>T	2	179442849	179442849	A	T	TTN	c.41573T>A	NM_133432.3	NP_597676.3:p.(Ile13858Lys)	NC_000002.11:g.179442849A>T	VUS	1 lab	bc58a63ea6
2:179436096 TTN G>A	2	179436096	179436096	G	A	TTN	c.47943C>T	NM_133432.3	NP_597676.3:p.(Ser15981=)	NC_000002.11:g.179436096G>A	(Likely) benign	1 lab	bc5b5e10d9
1:201331078 TNNT2 C>A	1	201331078	201331078	C	A	TNNT2	c.673G>T	NM_000364.4	NP_000355.2:p.(Val225Leu)	NC_000001.10:g.201331078C>A	VUS	1 lab	bc6242e508
3:123411701 MYLK G>A	3	123411701	123411701	G	A	MYLK	c.3449-3C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123411701G>A	(Likely) benign	1 lab	bc65afe346
2:179433099 TTN GC>G	2	179433099	179433104	GC	G	TTN	c.77759del	NM_001267550.2	NP_001254479.2:p.(Gly25920AlafsTer33)	NC_000002.11:g.179433104del	(Likely) pathogenic	1 lab	bc6755c8e7
17:41215870 BRCA1 G>T	17	41215870	41215870	G	T	BRCA1	c.5215+21C>A	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41215870G>T	VUS	1 lab	bec43fa3d2
19:13325433 CACNA1A G>A	19	13325433	13325433	G	A	CACNA1A	c.5750-11C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325433G>A	(Likely) benign	1 lab	bc6acecd09
6:112469404 LAMA4 C>A	6	112469404	112469404	C	A	LAMA4	c.2308G>T	NM_001105206.3	NP_001098676.2:p.(Asp770Tyr)	NC_000006.11:g.112469404C>A	VUS	1 lab	bc6c01bd56
5:1271284 TERT G>A	5	1271284	1271284	G	A	TERT	c.2418C>T	NM_198253.2	NP_937983.2:p.(Phe806=)	NC_000005.9:g.1271284G>A	(Likely) benign	1 lab	bc6c51f82c
3:171323103 PLD1 T>C	3	171323103	171323103	T	C	PLD1	c.2986A>G	NM_002662.5	NP_002653.1:p.(Thr996Ala)	NC_000003.11:g.171323103T>C	VUS	1 lab	d6a55b70b5
16:15876248 MYH11 T>A	16	15876248	15876248	T	A	MYH11	c.741A>T	NM_001040113.2	NP_001035202.1:p.(Ser247=)	NC_000016.9:g.15876248T>A	(Likely) benign	1 lab	bc70b0da49
14:77493821 IRF2BPL TTGCTGTTGCGCGGCGGCGGCGGCGGCCGCCGC>T	14	77493821	77493858	TTGCTGTTGCGCGGCGGCGGCGGCGGCCGCCGC	T	IRF2BPL	c.283_314del	NM_024496.4	NP_078772.1:p.(Ala95ThrfsTer27)	NC_000014.8:g.77493827_77493858del	(Likely) pathogenic	1 lab	d6a5e2bd1a
10:15702863 ITGA8 A>C	10	15702863	15702863	A	C	ITGA8	c.891+15T>G	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15702863A>C	(Likely) benign	1 lab	bc76123fdb
21:47417975 COL6A1 A>G	21	47417975	47417975	A	G	COL6A1	c.1525-60A>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47417975A>G	(Likely) benign	1 lab	bc7dbf11da
16:23391905 SCNN1B C>T	16	23391905	23391905	C	T	SCNN1B	c.1706C>T	NM_000336.3	NP_000327.2:p.(Ala569Val)	NC_000016.9:g.23391905C>T	(Likely) benign	1 lab	bc7ec6484a
18:55398922 ATP8B1 C>T	18	55398922	55398922	C	T	ATP8B1	c.118G>A	NM_005603.6	NP_005594.2:p.(Val40Ile)	NC_000018.9:g.55398922C>T	VUS	1 lab	bc80a1a573
2:174128561 MAP3K20 A>T	2	174128561	174128561	A	T	MAP3K20	c.1640A>T	NM_016653.2	NP_057737.2:p.(Gln547Leu)	NC_000002.11:g.174128561A>T	(Likely) benign	1 lab	bc823b8967
6:110113715 FIG4 G>T	6	110113715	110113715	G	T	FIG4	c.2377-70G>T	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110113715G>T	(Likely) benign	1 lab	bc89cadf69
2:217303185 SMARCAL1 C>T	2	217303185	217303185	C	T	SMARCAL1	c.1687C>T	NM_014140.3	NP_054859.2:p.(Arg563Ter)	NC_000002.11:g.217303185C>T	(Likely) pathogenic	1 lab	bc8be3e0ef
1:40735707 ZMPSTE24 T>C	1	40735707	40735707	T	C	ZMPSTE24				NC_000001.10:g.40735707T>C	(Likely) benign	1 lab	bc8cddeb19
20:62046497 KCNQ2 G>A	20	62046497	62046497	G	A	KCNQ2	c.1302-18C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62046497G>A	(Likely) benign	1 lab	bc94c84490
5:14388797 TRIO G>GTT	5	14388797	14388815	G	GTT	TRIO	c.3948+26_3948+27dup	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14388814_14388815dup	(Likely) benign	1 lab	bc968ec41b
2:179453730 TTN G>A	2	179453730	179453730	G	A	TTN	c.62722C>T	NM_001267550.1	NP_001254479.1:p.(Arg20908Ter)	NC_000002.11:g.179453730G>A	(Likely) pathogenic	1 lab	bc9a480b65
2:179647113 TTN AG>A	2	179647113	179647115	AG	A	TTN	c.3205del	NM_001267550.2	NP_001254479.2:p.(Leu1069SerfsTer54)	NC_000002.11:g.179647115del	(Likely) pathogenic	1 lab	bc9e04ebad
2:167060983 SCN9A AC>A	2	167060983	167060984	AC	A	SCN9A	c.4399-10del	NM_001365536.1	NP_001352465.1:p.?	NC_000002.11:g.167060984del	(Likely) benign	1 lab	bca807df7c
4:103505959 NFKB1 T>C	4	103505959	103505959	T	C	NFKB1	c.1048T>C	NM_003998.4	NP_003989.2:p.(Tyr350His)	NC_000004.11:g.103505959T>C	(Likely) pathogenic	1 lab	bcaa130a14
6:33411567 SYNGAP1 G>A	6	33411567	33411567	G	A	SYNGAP1	c.3238G>A	NM_006772.3	NP_006763.2:p.(Ala1080Thr)	NC_000006.11:g.33411567G>A	(Likely) benign	1 lab	bcaaafa59f
2:179623887 TTN G>A	2	179623887	179623887	G	A	TTN	c.10127C>T	NM_001267550.2	NP_001254479.2:p.(Ser3376Leu)	NC_000002.11:g.179623887G>A	VUS	1 lab	d6a83f27ec
9:370292 DOCK8 C>A	9	370292	370292	C	A	DOCK8	c.1860C>A	NM_203447.3	NP_982272.2:p.(Tyr620Ter)	NC_000009.11:g.370292C>A	(Likely) pathogenic	1 lab	bcceb3db12
12:110017655 MVK AGGAGGTT>A	12	110017655	110017663	AGGAGGTT	A	MVK	c.277_283del	NM_000431.4	NP_000422.1:p.(Glu93GlnfsTer38)	NC_000012.11:g.110017657_110017663del	(Likely) pathogenic	1 lab	bcadd97961
19:41206207 COQ8B C>T	19	41206207	41206207	C	T	COQ8B	c.1035+8G>A	NM_024876.4	NP_079152.3:p.?	NC_000019.9:g.41206207C>T	(Likely) benign	1 lab	bcafbc519b
8:100520087 VPS13B G>A	8	100520087	100520087	G	A	VPS13B	c.4247G>A	NM_017890.4	NP_060360.3:p.(Arg1416Gln)	NC_000008.10:g.100520087G>A	(Likely) benign	1 lab	bcbc457860
16:88801408 PIEZO1 C>T	16	88801408	88801408	C	T	PIEZO1	c.1723G>A	NM_001142864.4	NP_001136336.2:p.(Val575Met)	NC_000016.9:g.88801408C>T	(Likely) benign	1 lab	bcbff302bb
16:1524842 CLCN7 G>T	16	1524842	1524842	G	T	CLCN7	c.134C>A	NM_001287.6	NP_001278.1:p.(Ala45Glu)	NC_000016.9:g.1524842G>T	(Likely) benign	1 lab	bcc3b9ee29
1:155263275 PKLR G>A	1	155263275	155263275	G	A	PKLR	c.1223C>T	NM_000298.6	NP_000289.1:p.(Thr408Ile)	NC_000001.10:g.155263275G>A	(Likely) pathogenic	1 lab	bcc43d725c
19:33793146 CEBPA C>A	19	33793146	33793146	C	A	CEBPA	c.175G>T	NM_004364.3	NP_004355.2:p.(Glu59Ter)	NC_000019.9:g.33793146C>A	VUS	1 lab	bcc6e800df
4:79229302 FRAS1 A>G	4	79229302	79229302	A	G	FRAS1	c.1617A>G	NM_025074.7	NP_079350.5:p.(Arg539=)	NC_000004.11:g.79229302A>G	(Likely) benign	1 lab	bcd002965c
1:3732828 CEP104 C>T	1	3732828	3732828	C	T	CEP104	c.2662+16G>A	NM_014704.3	NP_055519.1:p.?	NC_000001.10:g.3732828C>T	(Likely) benign	1 lab	bcd24f0144
15:72767374 ARIH1 C>T	15	72767374	72767374	C	T	ARIH1	c.375+19C>T	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72767374C>T	(Likely) benign	1 lab	bceb0563f1
1:235973750 LYST T>C	1	235973750	235973750	T	C	LYST	c.368A>G	NM_000081.3	NP_000072.2:p.(His123Arg)	NC_000001.10:g.235973750T>C	(Likely) benign	1 lab	bcd49ecf21
2:200776336 C2orf69 A>C	2	200776336	200776336	A	C	C2orf69	c.175A>C	NM_153689.6	NP_710156.3:p.(Thr59Pro)	NC_000002.11:g.200776336A>C	(Likely) benign	1 lab	bcd6edd060
1:6279316 RNF207 C>T	1	6279316	6279316	C	T	RNF207	c.1754C>T	NM_207396.3	NP_997279.2:p.(Pro585Leu)	NC_000001.10:g.6279316C>T	(Likely) benign	1 lab	bcd7d01f32
9:138657456 KCNT1 C>T	9	138657456	138657456	C	T	KCNT1	c.1201-14C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138657456C>T	(Likely) benign	1 lab	bcd9d77a3b
4:15562221 CC2D2A TAGA>T	4	15562221	15562232	TAGA	T	CC2D2A	c.2999_3001del	NM_001378615.1	NP_001365544.1:p.(Glu1000del)	NC_000004.11:g.15562230_15562232del	VUS	1 lab	bcdae56d0b
14:96730475 BDKRB1 G>A	14	96730475	96730475	G	A	BDKRB1	c.456G>A	NM_000710.4	NP_000701.2:p.(Arg152=)	NC_000014.8:g.96730475G>A	(Likely) benign	1 lab	bcdcdd9b1a
14:23898313 MYH7 C>T	14	23898313	23898313	C	T	MYH7	c.1258G>A	NM_000257.2	NP_000248.2:p.(Val420Met)	NC_000014.8:g.23898313C>T	VUS	1 lab	bcde13979c
2:179440137 TTN T>TTTTC	2	179440137	179440144	T	TTTTC	TTN	c.70718_70721dup	NM_001267550.2	NP_001254479.2:p.(Gly23575LysfsTer4)	NC_000002.11:g.179440141_179440144dup	(Likely) pathogenic	1 lab	d6a997efb0
18:59713161 PIGN G>A	18	59713161	59713161	G	A	PIGN	c.2724C>T	NM_176787.4	NP_789744.1:p.(Leu908=)	NC_000018.9:g.59713161G>A	(Likely) benign	1 lab	bce82df6e8
19:6583485 CD70 A>C	19	6583485	6583485	A	C	CD70	c.453T>G	NM_001330332.2	NP_001317261.1:p.(Leu151=)	NC_000019.9:g.6583485A>C	(Likely) benign	1 lab	bce8e6aba1
9:14851580 FREM1 T>C	9	14851580	14851580	T	C	FREM1	c.854A>G	NM_144966.5	NP_659403.4:p.(Tyr285Cys)	NC_000009.11:g.14851580T>C	VUS	1 lab	bce9e01636
10:78785377 KCNMA1 A>G	10	78785377	78785377	A	G	KCNMA1	c.1929-162T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78785377A>G	(Likely) benign	1 lab	bcea2281c1
7:143043377 CLCN1 C>G	7	143043377	143043377	C	G	CLCN1	c.2284+33C>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043377C>G	(Likely) benign	1 lab	bcee2c75d8
1:9782227 PIK3CD G>C	1	9782227	9782227	G	C	PIK3CD	c.2234+16G>C	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9782227G>C	(Likely) benign	1 lab	bcee6d1a9e
16:1575932 IFT140 G>A	16	1575932	1575932	G	A	IFT140	c.2724C>T	NM_014714.4	NP_055529.2:p.(Ala908=)	NC_000016.9:g.1575932G>A	(Likely) benign	1 lab	bcf23ff691
15:91352505 BLM T>C	15	91352505	91352505	T	C	BLM	c.3874+16T>C	NM_000057.2	NP_000048.1:p.?	NC_000015.9:g.91352505T>C	(Likely) benign	1 lab	bcf2ee3b23
7:74197310 NCF1 G>A	7	74197310	74197310	G	A	NCF1	c.480G>A	NM_000265.6	NP_000256.4:p.(Thr160=)	NC_000007.13:g.74197310G>A	(Likely) benign	1 lab	bcf75feaa3
12:6442469 TNFRSF1A G>A	12	6442469	6442469	G	A	TNFRSF1A	c.472+64C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442469G>A	(Likely) benign	1 lab	bcfe2534e0
X:154221406 F8 G>A	X	154221406	154221406	G	A	F8	c.406C>T	NM_000132.3	NP_000123.1:p.(Gln136Ter)	NC_000023.10:g.154221406G>A	(Likely) pathogenic	1 lab	bd049a7d2e
11:67808759 TCIRG1 C>T	11	67808759	67808759	C	T	TCIRG1				NC_000011.9:g.67808759C>T	(Likely) benign	1 lab	bd04d3c16b
12:48372379 COL2A1 C>T	12	48372379	48372379	C	T	COL2A1	c.2895+1G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48372379C>T	(Likely) pathogenic	1 lab	d6aace4345
X:53569477 HUWE1 C>T	X	53569477	53569477	C	T	HUWE1	c.11403G>A	NM_031407.7	NP_113584.3:p.(Ala3801=)	NC_000023.10:g.53569477C>T	(Likely) benign	1 lab	bd07a6d0dd
7:143017646 CLCN1 TTC>T	7	143017646	143017679	TTC	T	CLCN1	c.302-79_302-78del	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143017678_143017679del	(Likely) benign	1 lab	bd0c217dce
18:43447618 EPG5 G>A	18	43447618	43447618	G	A	EPG5	c.6321C>T	NM_020964.3	NP_066015.2:p.(Ser2107=)	NC_000018.9:g.43447618G>A	(Likely) benign	1 lab	bd0f9c4a6a
2:217279499 SMARCAL1 A>G	2	217279499	217279499	A	G	SMARCAL1	c.72A>G	NM_014140.3	NP_054859.2:p.(Arg24=)	NC_000002.11:g.217279499A>G	(Likely) benign	1 lab	bd14fb38ef
6:39877666 MOCS1 G>A	6	39877666	39877666	G	A	MOCS1	c.1015C>T	NM_005943.5	NP_005934.2:p.(Arg339Trp)	NC_000006.11:g.39877666G>A	(Likely) benign	1 lab	bd178f3cfc
1:27480600 SLC9A1 G>A	1	27480600	27480600	G	A	SLC9A1	c.226C>T	NM_003047.5	NP_003038.2:p.(His76Tyr)	NC_000001.10:g.27480600G>A	(Likely) benign	1 lab	bd4874d92d
10:86014125 RGR G>A	10	86014125	86014125	G	A	RGR	c.556G>A	NM_001012720.2	NP_001012738.1:p.(Ala186Thr)	NC_000010.10:g.86014125G>A	VUS	1 lab	d6ad39efea
16:88781272 CTU2 G>A	16	88781272	88781272	G	A	CTU2	c.1357G>A	NM_001012759.3	NP_001012777.1:p.(Asp453Asn)	NC_000016.9:g.88781272G>A	(Likely) benign	1 lab	bd1d0c6ec9
5:150028140 SYNPO G>A	5	150028140	150028140	G	A	SYNPO	c.303G>A	NM_007286.6	NP_009217.3:p.(Pro101=)	NC_000005.9:g.150028140G>A	(Likely) benign	1 lab	bd1d485c0c
21:28315713 ADAMTS5 A>G	21	28315713	28315713	A	G	ADAMTS5	c.1391T>C	NM_007038.5	NP_008969.2:p.(Leu464Pro)	NC_000021.8:g.28315713A>G	VUS	1 lab	d6b2e4ebc0
12:6443298 TNFRSF1A T>C	12	6443298	6443298	T	C	TNFRSF1A	c.152A>G	NM_001065.3	NP_001056.1:p.(His51Arg)	NC_000012.11:g.6443298T>C	(Likely) pathogenic	1 lab	bd23852065
10:15701045 ITGA8 T>A	10	15701045	15701045	T	A	ITGA8	c.901A>T	NM_003638.3	NP_003629.2:p.(Ile301Phe)	NC_000010.10:g.15701045T>A	(Likely) benign	1 lab	bd296b0eae
17:4074112 ANKFY1 G>A	17	4074112	4074112	G	A	ANKFY1	c.3309C>T	NM_001257999.2	NP_001244928.1:p.(Arg1103=)	NC_000017.10:g.4074112G>A	(Likely) benign	1 lab	bd29e366c4
16:3304733 MEFV T>TC	16	3304733	3304738	T	TC	MEFV	c.334dup	NM_000243.2	NP_000234.1:p.(Glu112GlyfsTer130)	NC_000016.9:g.3304738dup	(Likely) pathogenic	1 lab	bd2fee7953
7:128482931 FLNC GACA>G	7	128482931	128482936	GACA	G	FLNC	c.2476_2478del	NM_001458.5	NP_001449.3:p.(Asn826del)	NC_000007.13:g.128482934_128482936del	VUS	1 lab	bd3684affd
19:50364694 PNKP C>T	19	50364694	50364694	C	T	PNKP	c.1448+12G>A	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50364694C>T	(Likely) benign	1 lab	d6b4a332e0
3:11070551 SLC6A1 G>A	3	11070551	11070551	G	A	SLC6A1	c.1191+18G>A	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11070551G>A	(Likely) benign	1 lab	bd3b8d2a24
X:32583887 DMD C>T	X	32583887	32583887	C	T	DMD	c.1555G>A	NM_004010.3	NP_004001.1:p.(Ala519Thr)	NC_000023.10:g.32583887C>T	(Likely) benign	1 lab	bd3be66042
10:15573054 ITGA8 T>C	10	15573054	15573054	T	C	ITGA8	c.2977A>G	NM_003638.3	NP_003629.2:p.(Ile993Val)	NC_000010.10:g.15573054T>C	(Likely) benign	1 lab	bd3bff92f6
9:138660635 KCNT1 G>A	9	138660635	138660635	G	A	KCNT1	c.1402-40G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660635G>A	(Likely) benign	1 lab	bd3fad80f9
1:36939193 CSF3R G>A	1	36939193	36939193	G	A	CSF3R	c.516C>T	NM_156039.3	NP_724781.1:p.(Asp172=)	NC_000001.10:g.36939193G>A	(Likely) benign	1 lab	bd5b764608
5:147505300 SPINK5 A>G	5	147505300	147505300	A	G	SPINK5	c.2754A>G	NM_006846.3	NP_006837.2:p.(Glu918=)	NC_000005.9:g.147505300A>G	(Likely) benign	1 lab	bd5d0b9aea
20:2320584 TGM3 G>A	20	2320584	2320584	G	A	TGM3	c.1885G>A	NM_003245.4	NP_003236.3:p.(Val629Met)	NC_000020.10:g.2320584G>A	VUS	1 lab	d6b6e49888
1:115828998 NGF C>A	1	115828998	115828998	C	A	NGF	c.419G>T	NM_002506.3	NP_002497.2:p.(Ser140Ile)	NC_000001.10:g.115828998C>A	VUS	1 lab	d6b71397c5
16:2153759 PKD1 G>A	16	2153759	2153759	G	A	PKD1	c.8299C>T	NM_001009944.2	NP_001009944.2:p.(Arg2767Cys)	NC_000016.9:g.2153759G>A	(Likely) pathogenic	1 lab	bd6594ab06
5:41199861 C6 A>G	5	41199861	41199861	A	G	C6	c.445+9T>C	NM_001115131.3	NP_001108603.2:p.?	NC_000005.9:g.41199861A>G	(Likely) benign	1 lab	bd65c5e291
20:60899623 LAMA5 G>A	20	60899623	60899623	G	A	LAMA5	c.5530-13C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60899623G>A	(Likely) benign	1 lab	bd6685b4b5
1:196801143 CFHR1 A>G	1	196801143	196801143	A	G	CFHR1	c.*14A>G	NM_002113.2	NP_002104.2:p.?	NC_000001.10:g.196801143A>G	(Likely) benign	1 lab	bd66c9eca9
17:73836886 UNC13D G>A	17	73836886	73836886	G	A	UNC13D	c.640C>T	NM_199242.2	NP_954712.1:p.(Arg214Ter)	NC_000017.10:g.73836886G>A	(Likely) pathogenic	1 lab	bd6c37d2a7
8:68340273 CPA6 G>A	8	68340273	68340273	G	A	CPA6	c.1126+9C>T	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68340273G>A	(Likely) benign	1 lab	bd6e44e29b
2:179659709 TTN G>A	2	179659709	179659709	G	A	TTN	c.1185C>T	NM_001267550.1	NP_001254479.1:p.(Ala395=)	NC_000002.11:g.179659709G>A	(Likely) benign	1 lab	bd6fcb5109
5:14291055 TRIO C>G	5	14291055	14291055	C	G	TRIO	c.771C>G	NM_007118.4	NP_009049.2:p.(Ile257Met)	NC_000005.9:g.14291055C>G	(Likely) benign	1 lab	bd70884bcb
X:154158444 F8 G>A	X	154158444	154158444	G	A	F8	c.3621C>T	NM_000132.3	NP_000123.1:p.(His1207=)	NC_000023.10:g.154158444G>A	(Likely) benign	1 lab	bd73c04bbf
X:110961404 ALG13 G>A	X	110961404	110961404	G	A	ALG13	c.1152G>A	NM_001099922.3	NP_001093392.1:p.(Ala384=)	NC_000023.10:g.110961404G>A	(Likely) benign	1 lab	bd7a79f349
12:110246369 TRPV4 A>G	12	110246369	110246369	A	G	TRPV4	c.387-96T>C	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110246369A>G	(Likely) benign	1 lab	bd7b494008
9:103060281 INVS G>A	9	103060281	103060281	G	A	INVS	c.3080G>A	NM_014425.5	NP_055240.2:p.(Arg1027His)	NC_000009.11:g.103060281G>A	(Likely) benign	1 lab	bd7fc7427c
9:123253727 CDK5RAP2 C>T	9	123253727	123253727	C	T	CDK5RAP2	c.1340G>A	NM_018249.6	NP_060719.4:p.(Arg447His)	NC_000009.11:g.123253727C>T	VUS	1 lab	d6b813341b
2:166892450 SCN1A A>T	2	166892450	166892450	A	T	SCN1A	c.3429+108T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166892450A>T	(Likely) benign	1 lab	bd807672f1
1:236920843 ACTN2 G>T	1	236920843	236920843	G	T	ACTN2	c.2212G>T	NM_001103.4	NP_001094.1:p.(Val738Leu)	NC_000001.10:g.236920843G>T	VUS	1 lab	d6bce70d83
1:247588880 NLRP3 C>G	1	247588880	247588880	C	G	NLRP3	c.2129C>G	NM_001243133.2	NP_001230062.1:p.(Ser710Cys)	NC_000001.10:g.247588880C>G	VUS	1 lab	bd8624763b
1:209962944 IRF6 A>G	1	209962944	209962944	A	G	IRF6	c.1179+68T>C	NM_006147.4	NP_006138.1:p.?	NC_000001.10:g.209962944A>G	(Likely) benign	1 lab	bd8928dbc6
14:65270516 SPTB C>T	14	65270516	65270516	C	T	SPTB	c.301-18G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65270516C>T	(Likely) benign	1 lab	bd8e02227b
9:6550883 GLDC G>A	9	6550883	6550883	G	A	GLDC	c.2489C>T	NM_000170.2	NP_000161.2:p.(Thr830Met)	NC_000009.11:g.6550883G>A	(Likely) pathogenic	1 lab	bd8e161613
21:34799315 IFNGR2 C>T	21	34799315	34799315	C	T	IFNGR2	c.537C>T	NM_005534.3	NP_005525.2:p.(Tyr179=)	NC_000021.8:g.34799315C>T	(Likely) benign	1 lab	bd8f2c6997
6:32810792 PSMB8 G>T	6	32810792	32810792	G	T	PSMB8	c.210C>A	NM_004159.5	NP_004150.1:p.(Thr70=)	NC_000006.11:g.32810792G>T	(Likely) benign	1 lab	bd920042a7
2:179437998 TTN CAGTCCAGACACTTTATATCTTAAATCAGTAAG>C	2	179437998	179438033	CAGTCCAGACACTTTATATCTTAAATCAGTAAG	C	TTN	c.72829_72860del	NM_001267550.2	NP_001254479.2:p.(Leu24277AspfsTer5)	NC_000002.11:g.179438002_179438033del	(Likely) pathogenic	1 lab	bd9ab2a931
10:43622003 RET C>T	10	43622003	43622003	C	T	RET	c.3040-20C>T	NM_020975.4	NP_066124.1:p.?	NC_000010.10:g.43622003C>T	(Likely) benign	1 lab	bd9e6498d1
6:52356864 EFHC1 CT>C	6	52356864	52356867	CT	C	EFHC1	c.1852-201del	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52356867del	(Likely) benign	1 lab	bda045771f
19:1623939 TCF3 G>A	19	1623939	1623939	G	A	TCF3	c.549+11C>T	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1623939G>A	(Likely) benign	1 lab	bda05feff5
2:227875029 COL4A4 C>T	2	227875029	227875029	C	T	COL4A4	c.4522G>A	NM_000092.4	NP_000083.3:p.(Gly1508Ser)	NC_000002.11:g.227875029C>T	(Likely) pathogenic	1 lab	bda1c261e7
5:131705698 SLC22A5 G>A	5	131705698	131705698	G	A	SLC22A5	c.34G>A	NM_003060.4	NP_003051.1:p.(Gly12Ser)	NC_000005.9:g.131705698G>A	VUS	1 lab	bda37d2e9d
12:7242010 C1R G>C	12	7242010	7242010	G	C	C1R	c.689C>G	NM_001354346.2	NP_001341275.1:p.(Pro230Arg)	NC_000012.11:g.7242010G>C	(Likely) benign	1 lab	bdab65224d
8:100127850 VPS13B C>G	8	100127850	100127850	C	G	VPS13B	c.763-78C>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100127850C>G	(Likely) benign	1 lab	bdaf2ae487
2:216261925 FN1 A>G	2	216261925	216261925	A	G	FN1	c.3539T>C	NM_212482.2	NP_997647.1:p.(Leu1180Ser)	NC_000002.11:g.216261925A>G	VUS	1 lab	bdaf51c053
7:98985732 ARPC1B G>A	7	98985732	98985732	G	A	ARPC1B	c.240G>A	NM_005720.4	NP_005711.1:p.(Thr80=)	NC_000007.13:g.98985732G>A	(Likely) benign	1 lab	bdb37dd831
16:2155411 PKD1 C>A	16	2155411	2155411	C	A	PKD1	c.7928G>T	NM_001009944.2	NP_001009944.2:p.(Arg2643Leu)	NC_000016.9:g.2155411C>A	VUS	1 lab	bdb5beed12
X:70330480 IL2RG C>A	X	70330480	70330480	C	A	IL2RG	c.328G>T	NM_000206.2	NP_000197.1:p.(Glu110Ter)	NC_000023.10:g.70330480C>A	VUS	1 lab	bdb68b2772
8:13251047 DLC1 T>C	8	13251047	13251047	T	C	DLC1	c.1314+15A>G	NM_182643.3	NP_872584.2:p.?	NC_000008.10:g.13251047T>C	(Likely) benign	1 lab	bdbd33f726
22:19748521 TBX1 CCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGG>C	22	19748521	19748595	CCCCGCCGCCGCCGCCGCGCTACGACCCGTGCGCCGCCGCCGCCCCCGGCGCCCCGGG	C	TBX1	c.173_229del	NM_001379200.1	NP_001366129.1:p.(Arg58_Pro76del)	NC_000022.10:g.19748539_19748595del	VUS	1 lab	bdbdc96c5b
18:29101199 DSG2 T>G	18	29101199	29101199	T	G	DSG2	c.516T>G	NM_001943.3	NP_001934.2:p.(Ser172Arg)	NC_000018.9:g.29101199T>G	VUS	1 lab	bdc455cc3d
10:72358751 PRF1 G>A	10	72358751	72358751	G	A	PRF1	c.726C>T	NM_001083116.1	NP_001076585.1:p.(Cys242=)	NC_000010.10:g.72358751G>A	(Likely) benign	1 lab	bdc4798c08
1:116937920 ATP1A1 C>T	1	116937920	116937920	C	T	ATP1A1	c.1836+13C>T	NM_001160233.1	NP_001153705.1:p.?	NC_000001.10:g.116937920C>T	(Likely) benign	1 lab	bdc8312282
17:40936108 WNK4 C>T	17	40936108	40936108	C	T	WNK4	c.945C>T	NM_032387.5	NP_115763.2:p.(Gly315=)	NC_000017.10:g.40936108C>T	(Likely) benign	1 lab	bdcc3f4394
16:3293318 MEFV G>A	16	3293318	3293318	G	A	MEFV	c.2169C>T	NM_000243.2	NP_000234.1:p.(Asp723=)	NC_000016.9:g.3293318G>A	(Likely) benign	1 lab	bdce364591
15:80460435 FAH T>G	15	80460435	80460435	T	G	FAH	c.497T>G	NM_000137.4	NP_000128.1:p.(Val166Gly)	NC_000015.9:g.80460435T>G	(Likely) pathogenic	1 lab	bdce76fb95
2:228168795 COL4A3 C>G	2	228168795	228168795	C	G	COL4A3	c.4088C>G	NM_000091.4	NP_000082.2:p.(Pro1363Arg)	NC_000002.11:g.228168795C>G	VUS	1 lab	bdd33f8453
2:168099738 XIRP2 T>C	2	168099738	168099738	T	C	XIRP2	c.1836T>C	NM_152381.6	NP_689594.4:p.(Gly612=)	NC_000002.11:g.168099738T>C	(Likely) benign	1 lab	bdd5731ed5
8:95718131 ESRP1 CTTTT>C	8	95718131	95718149	CTTTT	C	ESRP1	c.*36-7_*36-4del	NM_017697.4	NP_060167.2:p.?	NC_000008.10:g.95718146_95718149del	(Likely) benign	1 lab	bddbfe8aea
2:50280430 NRXN1 C>T	2	50280430	50280430	C	T	NRXN1	c.4017G>A	NM_004801.5	NP_004792.1:p.(Pro1339=)	NC_000002.11:g.50280430C>T	(Likely) benign	1 lab	bde01de176
3:122004098 CASR A>T	3	122004098	122004098	A	T	CASR	c.*60A>T	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.122004098A>T	(Likely) benign	1 lab	bde3ceffc0
14:64632017 SYNE2 G>C	14	64632017	64632017	G	C	SYNE2	c.16494G>C	NM_182914.2	NP_878918.2:p.(Gln5498His)	NC_000014.8:g.64632017G>C	VUS	1 lab	bde52a6d6c
2:224630047 AP1S3 G>A	2	224630047	224630047	G	A	AP1S3	c.312C>T	NM_001039569.2	NP_001034658.1:p.(Ile104=)	NC_000002.11:g.224630047G>A	(Likely) benign	1 lab	bde797534a
2:179416474 TTN T>C	2	179416474	179416474	T	C	TTN	c.91153A>G	NM_001267550.1	NP_001254479.1:p.(Arg30385Gly)	NC_000002.11:g.179416474T>C	(Likely) pathogenic	1 lab	bded85f9f3
4:2826218 SH3BP2 C>CA	4	2826218	2826219	C	CA	SH3BP2	c.324-122_324-121insA	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2826218_2826219insA	(Likely) benign	1 lab	bdf02a08fc
5:89910839 ADGRV1 A>G	5	89910839	89910839	A	G	ADGRV1	c.207+3A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910839A>G	(Likely) benign	1 lab	bdf1dd7a93
10:16948215 CUBN G>A	10	16948215	16948215	G	A	CUBN	c.7899C>T	NM_001081.3	NP_001072.2:p.(Leu2633=)	NC_000010.10:g.16948215G>A	(Likely) benign	1 lab	bdf201e080
12:110270953 TRPV4 A>G	12	110270953	110270953	A	G	TRPV4	c.-32+202T>C	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110270953A>G	(Likely) benign	1 lab	bdf33cc0fb
15:85189595 WDR73 G>C	15	85189595	85189595	G	C	WDR73				NC_000015.9:g.85189595G>C	(Likely) benign	1 lab	bdfddb8194
11:10800325 CTR9 G>A	11	10800325	10800325	G	A	CTR9	c.3195G>A	NM_014633.5	NP_055448.1:p.(Lys1065=)	NC_000011.9:g.10800325G>A	(Likely) benign	1 lab	be01839d2f
4:79394721 FRAS1 A>G	4	79394721	79394721	A	G	FRAS1	c.7652A>G	NM_025074.7	NP_079350.5:p.(Gln2551Arg)	NC_000004.11:g.79394721A>G	(Likely) benign	1 lab	be036ef993
13:49047527 RB1 G>A	13	49047527	49047527	G	A	RB1	c.2520+1G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49047527G>A	(Likely) pathogenic	1 lab	d6cb724c5f
17:3806570 P2RX1 G>A	17	3806570	3806570	G	A	P2RX1	c.673C>T	NM_002558.4	NP_002549.1:p.(Pro225Ser)	NC_000017.10:g.3806570G>A	(Likely) benign	1 lab	be05a0c8a8
14:64909063 MTHFD1 C>T	14	64909063	64909063	C	T	MTHFD1	c.2079C>T	NM_005956.4	NP_005947.3:p.(His693=)	NC_000014.8:g.64909063C>T	(Likely) benign	1 lab	be099b1356
8:27321215 CHRNA2 C>T	8	27321215	27321215	C	T	CHRNA2	c.745G>A	NM_000742.4	NP_000733.2:p.(Ala249Thr)	NC_000008.10:g.27321215C>T	(Likely) benign	1 lab	be0e5d4648
15:43508730 EPB42 G>C	15	43508730	43508730	G	C	EPB42	c.101-79C>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43508730G>C	(Likely) benign	1 lab	be0ef1a0aa
2:166243158 SCN2A T>A	2	166243158	166243158	T	A	SCN2A	c.4552-98T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243158T>A	(Likely) benign	1 lab	be10081dfd
21:34939585 SON T>G	21	34939585	34939585	T	G	SON	c.6768+12T>G	NM_138927.2	NP_620305.2:p.?	NC_000021.8:g.34939585T>G	(Likely) benign	1 lab	be12d034cc
16:75573837 TMEM231 C>T	16	75573837	75573837	C	T	TMEM231	n.1172G>A	NR_074083.2		NC_000016.9:g.75573837C>T	(Likely) benign	1 lab	be1796686e
17:80788492 TBCD A>G	17	80788492	80788492	A	G	TBCD	c.1318+15682A>G	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788492A>G	(Likely) benign	1 lab	d6cd9c8696
3:123337627 MYLK A>C	3	123337627	123337627	A	C	MYLK	c.5369-10T>G	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123337627A>C	(Likely) benign	1 lab	be1cf6876d
8:17794733 PCM1 G>A	8	17794733	17794733	G	A	PCM1	c.187G>A	NM_006197.4	NP_006188.4:p.(Asp63Asn)	NC_000008.10:g.17794733G>A	(Likely) benign	1 lab	be1d40d1da
9:712382 KANK1 G>A	9	712382	712382	G	A	KANK1	c.1616G>A	NM_015158.4	NP_055973.2:p.(Gly539Glu)	NC_000009.11:g.712382G>A	VUS	1 lab	be26f16ea2
14:58920178 KIAA0586 G>A	14	58920178	58920178	G	A	KIAA0586	c.1399G>A	NM_001244189.2	NP_001231118.1:p.(Glu467Lys)	NC_000014.8:g.58920178G>A	(Likely) benign	1 lab	be2878fdb8
14:65234585 SPTB G>A	14	65234585	65234585	G	A	SPTB	c.6023-8C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234585G>A	(Likely) benign	1 lab	be33474df6
14:67389274 GPHN T>C	14	67389274	67389274	T	C	GPHN	c.457-109T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67389274T>C	(Likely) benign	1 lab	be3698f6c5
1:155582257 MSTO1 G>A	1	155582257	155582257	G	A	MSTO1	c.862G>A	NM_018116.4	NP_060586.2:p.(Val288Met)	NC_000001.10:g.155582257G>A	(Likely) benign	1 lab	be37f85c74
X:49850989 CLCN5 G>A	X	49850989	49850989	G	A	CLCN5	c.809G>A	NM_000084.5	NP_000075.1:p.(Ser270Asn)	NC_000023.10:g.49850989G>A	(Likely) pathogenic	1 lab	be43f5817b
1:66088618 LEPR C>A	1	66088618	66088618	C	A	LEPR	c.2627C>A	NM_002303.5	NP_002294.2:p.(Pro876Gln)	NC_000001.10:g.66088618C>A	(Likely) pathogenic	1 lab	be458696e4
17:15134240 PMP22 G>A	17	15134240	15134240	G	A	PMP22	c.477C>T	NM_000304.2	NP_000295.1:p.(Arg159=)	NC_000017.10:g.15134240G>A	(Likely) benign	1 lab	be46074cfa
21:45711034 AIRE C>T	21	45711034	45711034	C	T	AIRE				NC_000021.8:g.45711034C>T	(Likely) benign	1 lab	be492978c6
9:14784665 FREM1 A>G	9	14784665	14784665	A	G	FREM1	c.4178-33T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14784665A>G	(Likely) benign	1 lab	be4a268dbf
2:179429764 TTN A>C	2	179429764	179429764	A	C	TTN	c.81095T>G	NM_001267550.1	NP_001254479.1:p.(Ile27032Ser)	NC_000002.11:g.179429764A>C	VUS	1 lab	be4ae31bf5
1:167825482 ADCY10 C>T	1	167825482	167825482	C	T	ADCY10	c.2092G>A	NM_018417.6	NP_060887.2:p.(Gly698Ser)	NC_000001.10:g.167825482C>T	VUS	1 lab	be4ae4b22a
8:2046733 MYOM2 C>T	8	2046733	2046733	C	T	MYOM2	c.2360C>T	NM_003970.4	NP_003961.3:p.(Ala787Val)	NC_000008.10:g.2046733C>T	VUS	1 lab	d6d05046da
1:247597181 NLRP3 G>A	1	247597181	247597181	G	A	NLRP3	c.2322-224G>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597181G>A	(Likely) benign	1 lab	be4d00f1d5
X:22244435 PHEX T>TTGAA	X	22244435	22244441	T	TTGAA	PHEX	c.1900-122_1900-119dup	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22244438_22244441dup	(Likely) benign	1 lab	be509a9682
16:56906375 SLC12A3 G>A	16	56906375	56906375	G	A	SLC12A3	c.964+1G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56906375G>A	(Likely) pathogenic	1 lab	be59f5868f
1:227149153 COQ8A G>A	1	227149153	227149153	G	A	COQ8A	c.67G>A	NM_020247.5	NP_064632.2:p.(Val23Met)	NC_000001.10:g.227149153G>A	VUS	1 lab	d6d5c2e54f
7:87047954 ABCB4 C>T	7	87047954	87047954	C	T	ABCB4	c.2395-18G>A	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87047954C>T	(Likely) benign	1 lab	be5f053d77
14:58927793 KIAA0586 TC>T	14	58927793	58927794	TC	T	KIAA0586	c.1975del	NM_001329943.3	NP_001316872.1:p.(Gly662AspfsTer20)	NC_000014.8:g.58927794del	(Likely) pathogenic	1 lab	be62ea1ad5
2:166773990 TTC21B A>C	2	166773990	166773990	A	C	TTC21B	c.1676T>G	NM_024753.5	NP_079029.3:p.(Val559Gly)	NC_000002.11:g.166773990A>C	(Likely) benign	1 lab	be63b04a96
14:65544630 MAX C>T	14	65544630	65544630	C	T	MAX	c.295+1G>A	NM_145113.3	NP_660088.1:p.?	NC_000014.8:g.65544630C>T	(Likely) pathogenic	1 lab	be664b5e4f
15:34532850 SLC12A6 C>T	15	34532850	34532850	C	T	SLC12A6	c.2409+12G>A	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34532850C>T	(Likely) benign	1 lab	be678c57e4
2:47288127 TTC7A C>T	2	47288127	47288127	C	T	TTC7A	c.2355+17C>T	NM_020458.4	NP_065191.2:p.?	NC_000002.11:g.47288127C>T	(Likely) benign	1 lab	be6a3c1f4d
9:126139161 CRB2 C>T	9	126139161	126139161	C	T	CRB2	c.3678C>T	NM_173689.7	NP_775960.4:p.(Ala1226=)	NC_000009.11:g.126139161C>T	(Likely) benign	1 lab	be6becf48a
9:14842267 FREM1 T>C	9	14842267	14842267	T	C	FREM1	c.1738+47A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14842267T>C	(Likely) benign	1 lab	be86326356
16:162769 NPRL3 G>A	16	162769	162769	G	A	NPRL3	c.399C>T	NM_001077350.3	NP_001070818.1:p.(Asn133=)	NC_000016.9:g.162769G>A	(Likely) benign	1 lab	be6ca09923
13:39433372 FREM2 C>T	13	39433372	39433372	C	T	FREM2	c.7216-52C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39433372C>T	(Likely) benign	1 lab	be6e391c32
13:39430350 FREM2 C>T	13	39430350	39430350	C	T	FREM2	c.7013C>T	NM_207361.6	NP_997244.4:p.(Thr2338Ile)	NC_000013.10:g.39430350C>T	VUS	1 lab	be6f28ad95
1:36359339 AGO1 G>C	1	36359339	36359339	G	C	AGO1	c.577G>C	NM_012199.5	NP_036331.1:p.(Gly193Arg)	NC_000001.10:g.36359339G>C	(Likely) pathogenic	1 lab	da36800194
16:2142071 PKD1 G>C	16	2142071	2142071	G	C	PKD1	c.11388C>G	NM_001009944.2	NP_001009944.2:p.(Ala3796=)	NC_000016.9:g.2142071G>C	(Likely) benign	1 lab	be6feab195
5:127700420 FBN2 T>C	5	127700420	127700420	T	C	FBN2	c.2303-2A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127700420T>C	VUS	1 lab	be745821d1
19:38991646 RYR1 C>T	19	38991646	38991646	C	T	RYR1	c.7614+16C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38991646C>T	(Likely) benign	1 lab	be7afedf0f
21:38858918 DYRK1A TAAAC>T	21	38858918	38858927	TAAAC	T	DYRK1A	c.637+8_637+11del	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38858924_38858927del	(Likely) benign	1 lab	be7ba2a7a9
3:81640290 GBE1 A>C	3	81640290	81640290	A	C	GBE1	c.1134T>G	NM_000158.3	NP_000149.3:p.(Ser378Arg)	NC_000003.11:g.81640290A>C	(Likely) benign	1 lab	be7fd85c33
X:153760891 G6PD C>T	X	153760891	153760891	C	T	G6PD	c.1178G>A	NM_001042351.2	NP_001035810.1:p.(Arg393His)	NC_000023.10:g.153760891C>T	(Likely) pathogenic	1 lab	be8789c8d3
1:10689869 PEX14 G>A	1	10689869	10689869	G	A	PEX14	c.959G>A	NM_004565.3	NP_004556.1:p.(Arg320Lys)	NC_000001.10:g.10689869G>A	(Likely) benign	1 lab	be8c63b414
22:26224922 MYO18B A>G	22	26224922	26224922	A	G	MYO18B	c.2966A>G	NM_032608.7	NP_115997.5:p.(Gln989Arg)	NC_000022.10:g.26224922A>G	(Likely) benign	1 lab	be8d79c4de
19:10477133 TYK2 G>A	19	10477133	10477133	G	A	TYK2	c.589C>T	NM_003331.4	NP_003322.3:p.(Arg197Cys)	NC_000019.9:g.10477133G>A	(Likely) benign	1 lab	be8eacea08
12:66911514 GRIP1 CT>C	12	66911514	66911524	CT	C	GRIP1	c.578+166del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66911524del	(Likely) benign	1 lab	be8fda21ec
21:34660497 IL10RB G>A	21	34660497	34660497	G	A	IL10RB				NC_000021.8:g.34660497G>A	(Likely) benign	1 lab	be9597b5a7
17:78178838 CARD14 C>T	17	78178838	78178838	C	T	CARD14	c.2403C>T	NM_024110.4	NP_077015.2:p.(Ser801=)	NC_000017.10:g.78178838C>T	(Likely) benign	1 lab	bea848bf7c
16:30972702 SETD1A G>T	16	30972702	30972702	G	T	SETD1A	c.361G>T	NM_014712.3	NP_055527.1:p.(Glu121Ter)	NC_000016.9:g.30972702G>T	(Likely) pathogenic	1 lab	d6da1445ae
6:56335039 DST T>C	6	56335039	56335039	T	C	DST	c.16006A>G	NM_001144769.5	NP_001138241.1:p.(Ile5336Val)	NC_000006.11:g.56335039T>C	VUS	1 lab	d6dc2ceb3d
2:179464098 TTN G>A	2	179464098	179464098	G	A	TTN	c.29602C>T	NM_133432.3	NP_597676.3:p.(Pro9868Ser)	NC_000002.11:g.179464098G>A	VUS	1 lab	beb3053cf4
15:42138572 JMJD7-PLA2G4B C>T	15	42138572	42138572	C	T	JMJD7-PLA2G4B	c.2465C>T	NM_005090.3	NP_005081.1:p.(Thr822Ile)	NC_000015.9:g.42138572C>T	(Likely) benign	1 lab	beb43aaa41
5:112111328 APC C>A	5	112111328	112111328	C	A	APC	c.425C>A	NM_000038.6	NP_000029.2:p.(Ser142Ter)	NC_000005.9:g.112111328C>A	(Likely) pathogenic	1 lab	d6ddb0494f
4:2834047 SH3BP2 T>A	4	2834047	2834047	T	A	SH3BP2	c.1491-11T>A	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2834047T>A	(Likely) benign	1 lab	bebf9dff1d
1:19746151 CAPZB G>A	1	19746151	19746151	G	A	CAPZB	c.171+4C>T	NM_001206541.3	NP_001193470.1:p.?	NC_000001.10:g.19746151G>A	(Likely) benign	1 lab	bec1899d1c
9:139327573 INPP5E T>C	9	139327573	139327573	T	C	INPP5E	c.1159+34A>G	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327573T>C	(Likely) benign	1 lab	bec4824a51
1:237947256 RYR2 G>A	1	237947256	237947256	G	A	RYR2	c.12244G>A	NM_001035.3	NP_001026.2:p.(Glu4082Lys)	NC_000001.10:g.237947256G>A	VUS	1 lab	bec69a3738
17:42153393 G6PC3 G>A	17	42153393	42153393	G	A	G6PC3	c.1023G>A	NM_138387.3	NP_612396.1:p.(Pro341=)	NC_000017.10:g.42153393G>A	(Likely) benign	1 lab	beca7fc1d8
12:53819426 AMHR2 C>T	12	53819426	53819426	C	T	AMHR2	c.622-47C>T	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53819426C>T	(Likely) pathogenic	1 lab	becbbbf8c0
4:151604686 LRBA T>C	4	151604686	151604686	T	C	LRBA	c.5921+17A>G	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151604686T>C	(Likely) benign	1 lab	bed18476a8
21:34793814 IFNGR2 C>T	21	34793814	34793814	C	T	IFNGR2	c.234C>T	NM_005534.3	NP_005525.2:p.(Asp78=)	NC_000021.8:g.34793814C>T	(Likely) benign	1 lab	bed2f7f4b4
2:113817021 IL36RN C>T	2	113817021	113817021	C	T	IL36RN	c.6C>T	NM_012275.2	NP_036407.1:p.(Val2=)	NC_000002.11:g.113817021C>T	(Likely) benign	1 lab	bed537139c
15:48719787 FBN1 C>T	15	48719787	48719787	C	T	FBN1	c.7181G>A	NM_000138.4	NP_000129.3:p.(Arg2394Gln)	NC_000015.9:g.48719787C>T	(Likely) benign	1 lab	bed6fbc047
16:3293423 MEFV G>C	16	3293423	3293423	G	C	MEFV	c.2064C>G	NM_000243.2	NP_000234.1:p.(Tyr688Ter)	NC_000016.9:g.3293423G>C	(Likely) pathogenic	1 lab	bed8083ed4
10:45430092 TMEM72 G>C	10	45430092	45430092	G	C	TMEM72	c.350-12G>C	NM_001123376.3	NP_001116848.1:p.?	NC_000010.10:g.45430092G>C	(Likely) benign	1 lab	bed912f094
2:122288434 CLASP1 CA>C	2	122288434	122288435	CA	C	CLASP1	c.196-534del	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288435del	(Likely) benign	1 lab	d6e19b5473
17:73752501 ITGB4 TC>T	17	73752501	73752507	TC	T	ITGB4	c.4709-3del	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73752507del	(Likely) benign	1 lab	beda16334b
1:62739226 KANK4 C>T	1	62739226	62739226	C	T	KANK4	c.1550G>A	NM_181712.5	NP_859063.3:p.(Arg517Lys)	NC_000001.10:g.62739226C>T	(Likely) benign	1 lab	bede8f6780
15:45360350 SORD G>C	15	45360350	45360350	G	C	SORD	c.545-29G>C	NM_003104.6	NP_003095.2:p.?	NC_000015.9:g.45360350G>C	(Likely) benign	1 lab	bee0db6b17
16:1269084 CACNA1H G>A	16	1269084	1269084	G	A	CACNA1H	c.6002G>A	NM_021098.3	NP_066921.2:p.(Arg2001Gln)	NC_000016.9:g.1269084G>A	(Likely) benign	1 lab	bee1ffc4c9
14:64443258 SYNE2 C>CT	14	64443258	64443277	C	CT	SYNE2	c.1129-4dup	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64443277dup	(Likely) benign	1 lab	bee35b01e4
4:10080578 WDR1 G>A	4	10080578	10080578	G	A	WDR1	c.1332C>T	NM_017491.5	NP_059830.1:p.(Pro444=)	NC_000004.11:g.10080578G>A	(Likely) benign	1 lab	beebde01fb
X:107936156 COL4A5 G>A	X	107936156	107936156	G	A	COL4A5	c.4688+1G>A	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107936156G>A	(Likely) pathogenic	1 lab	bef4e3cf42
1:26135741 SELENON C>G	1	26135741	26135741	C	G	SELENON	c.872+100C>G	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26135741C>G	(Likely) benign	1 lab	beff64afd0
16:2140180 PKD1 G>A	16	2140180	2140180	G	A	PKD1	c.12460C>T	NM_001009944.2	NP_001009944.2:p.(Arg4154Cys)	NC_000016.9:g.2140180G>A	(Likely) benign	1 lab	bf063aaf7a
4:2826912 SH3BP2 C>G	4	2826912	2826912	C	G	SH3BP2	c.501C>G	NM_001145855.2	NP_001139327.1:p.(Pro167=)	NC_000004.11:g.2826912C>G	(Likely) benign	1 lab	bf09712510
14:58920052 KIAA0586 A>C	14	58920052	58920052	A	C	KIAA0586	c.1289-16A>C	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.58920052A>C	(Likely) benign	1 lab	bf0a30dfe1
9:130580616 ENG A>G	9	130580616	130580616	A	G	ENG	c.1469T>C	NM_000118.3	NP_000109.1:p.(Leu490Ser)	NC_000009.11:g.130580616A>G	VUS	1 lab	bf104c08d0
1:115256530 NRAS G>A	1	115256530	115256530	G	A	NRAS	c.181C>T	NM_002524.5	NP_002515.1:p.(Gln61Ter)	NC_000001.10:g.115256530G>A	VUS	1 lab	d6e531c014
20:60905638 LAMA5 C>T	20	60905638	60905638	C	T	LAMA5	c.3885G>A	NM_005560.4	NP_005551.3:p.(Thr1295=)	NC_000020.10:g.60905638C>T	(Likely) benign	1 lab	bf186eec08
5:36671153 SLC1A3 G>A	5	36671153	36671153	G	A	SLC1A3	c.342G>A	NM_004172.5	NP_004163.3:p.(Lys114=)	NC_000005.9:g.36671153G>A	(Likely) benign	1 lab	bf1bc8720d
2:166223785 SCN2A C>A	2	166223785	166223785	C	A	SCN2A	c.3579C>A	NM_021007.3	NP_066287.2:p.(Leu1193=)	NC_000002.11:g.166223785C>A	(Likely) benign	1 lab	bf1d3ba84b
6:39864764 DAAM2 C>T	6	39864764	39864764	C	T	DAAM2	c.2510+8C>T	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39864764C>T	(Likely) benign	1 lab	bf1e6d2cec
X:71802396 PHKA1 C>T	X	71802396	71802396	C	T	PHKA1	c.3350G>A	NM_002637.4	NP_002628.2:p.(Arg1117His)	NC_000023.10:g.71802396C>T	(Likely) benign	1 lab	bf230301bc
19:17937645 JAK3 C>T	19	17937645	17937645	C	T	JAK3	c.3282G>A	NM_000215.3	NP_000206.2:p.(Gln1094=)	NC_000019.9:g.17937645C>T	(Likely) benign	1 lab	bf25b3d92e
16:30100381 TBX6 C>T	16	30100381	30100381	C	T	TBX6	c.504G>A	NM_004608.3	NP_004599.2:p.(Leu168=)	NC_000016.9:g.30100381C>T	(Likely) benign	1 lab	bf2c19c963
12:109924382 UBE3B T>G	12	109924382	109924382	T	G	UBE3B	c.447+2T>G	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924382T>G	VUS	1 lab	bf2c61e8c2
18:47433007 MYO5B A>G	18	47433007	47433007	A	G	MYO5B	c.2203-7T>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47433007A>G	(Likely) benign	1 lab	bf2dfb0add
5:131007358 FNIP1 C>T	5	131007358	131007358	C	T	FNIP1	c.2779G>A	NM_133372.3	NP_588613.3:p.(Val927Ile)	NC_000005.9:g.131007358C>T	(Likely) benign	1 lab	bf32e8da96
1:158631257 SPTA1 C>T	1	158631257	158631257	C	T	SPTA1	c.2465-58G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158631257C>T	(Likely) benign	1 lab	bf3d1d1da1
22:37334340 CSF2RB C>T	22	37334340	37334340	C	T	CSF2RB	c.2490C>T	NM_000395.3	NP_000386.1:p.(Pro830=)	NC_000022.10:g.37334340C>T	(Likely) benign	1 lab	bf444f4a86
21:47422712 COL6A1 C>T	21	47422712	47422712	C	T	COL6A1	c.2434+88C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47422712C>T	(Likely) benign	1 lab	bf448fdf60
5:176631153 NSD1 G>A	5	176631153	176631153	G	A	NSD1	c.1096G>A	NM_022455.4	NP_071900.2:p.(Val366Met)	NC_000005.9:g.176631153G>A	(Likely) pathogenic	1 lab	bf4635e795
4:103518830 NFKB1 C>G	4	103518830	103518830	C	G	NFKB1	c.1637+12C>G	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103518830C>G	(Likely) benign	1 lab	bf4a5d400a
5:125894936 ALDH7A1 C>T	5	125894936	125894936	C	T	ALDH7A1	c.1004G>A	NM_001182.5	NP_001173.2:p.(Arg335Gln)	NC_000005.9:g.125894936C>T	(Likely) pathogenic	1 lab	bf4f573363
4:178354406 AGA A>G	4	178354406	178354406	A	G	AGA	c.902T>C	NM_000027.4	NP_000018.2:p.(Phe301Ser)	NC_000004.11:g.178354406A>G	(Likely) benign	1 lab	bf582a4f40
12:6443391 TNFRSF1A A>G	12	6443391	6443391	A	G	TNFRSF1A	c.59T>C	NM_001065.3	NP_001056.1:p.(Val20Ala)	NC_000012.11:g.6443391A>G	VUS	1 lab	bf5f82b412
22:32241058 DEPDC5 T>C	22	32241058	32241058	T	C	DEPDC5	c.2856T>C	NM_001242896.3	NP_001229825.1:p.(Cys952=)	NC_000022.10:g.32241058T>C	(Likely) benign	1 lab	bf6226bc96
16:3297171 MEFV G>A	16	3297171	3297171	G	A	MEFV	c.1432C>T	NM_000243.2	NP_000234.1:p.(His478Tyr)	NC_000016.9:g.3297171G>A	VUS	1 lab	bf6347fb76
1:196654303 CFH TG>T	1	196654303	196654304	TG	T	CFH	c.901del	NM_000186.4	NP_000177.2:p.(Ala301GlnfsTer22)	NC_000001.10:g.196654304del	(Likely) pathogenic	1 lab	bf64be0af4
17:48154290 ITGA3 T>G	17	48154290	48154290	T	G	ITGA3	c.1923-48T>G	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48154290T>G	(Likely) benign	1 lab	bf6562f6d2
3:39227664 XIRP1 G>A	3	39227664	39227664	G	A	XIRP1	c.3273C>T	NM_194293.4	NP_919269.2:p.(Asp1091=)	NC_000003.11:g.39227664G>A	(Likely) benign	1 lab	bf656341ed
16:3293132 MEFV G>A	16	3293132	3293132	G	A	MEFV	c.*9C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293132G>A	(Likely) benign	1 lab	bf67d1b98d
3:123428680 MYLK G>C	3	123428680	123428680	G	C	MYLK	c.1865C>G	NM_053025.3	NP_444253.3:p.(Ala622Gly)	NC_000003.11:g.123428680G>C	VUS	1 lab	bf68179a1f
2:110922441 NPHP1 G>C	2	110922441	110922441	G	C	NPHP1	c.729-134C>G	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110922441G>C	(Likely) benign	1 lab	bf6a92080e
19:55667994 TNNI3 C>A	19	55667994	55667994	C	A	TNNI3	c.127G>T	NM_000363.4	NP_000354.4:p.(Ala43Ser)	NC_000019.9:g.55667994C>A	VUS	1 lab	bf6ba2626d
6:80910707 BCKDHB C>T	6	80910707	80910707	C	T	BCKDHB	c.799C>T	NM_183050.4	NP_898871.1:p.(Gln267Ter)	NC_000006.11:g.80910707C>T	(Likely) pathogenic	1 lab	d6e5e6c573
1:155269954 PKLR A>G	1	155269954	155269954	A	G	PKLR	c.218T>C	NM_000298.6	NP_000289.1:p.(Leu73Pro)	NC_000001.10:g.155269954A>G	(Likely) pathogenic	1 lab	bf6ed3089f
9:77415462 TRPM6 T>C	9	77415462	77415462	T	C	TRPM6	c.2010-64A>G	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77415462T>C	(Likely) benign	1 lab	bf6fb8e067
12:53818114 AMHR2 G>T	12	53818114	53818114	G	T	AMHR2	c.92G>T	NM_020547.3	NP_065434.1:p.(Gly31Val)	NC_000012.11:g.53818114G>T	VUS	1 lab	bf7097f73d
14:58896083 KIAA0586 T>A	14	58896083	58896083	T	A	KIAA0586	c.238T>A	NM_001244189.2	NP_001231118.1:p.(Ser80Thr)	NC_000014.8:g.58896083T>A	(Likely) benign	1 lab	bf74048847
1:230839020 AGT G>A	1	230839020	230839020	G	A	AGT	c.1325C>T	NM_000029.4	NP_000020.1:p.(Ser442Phe)	NC_000001.10:g.230839020G>A	(Likely) benign	1 lab	bf782c3db4
2:166799903 TTC21B T>C	2	166799903	166799903	T	C	TTC21B	c.430-52A>G	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166799903T>C	(Likely) benign	1 lab	bf7bdb0272
2:73717102 ALMS1 C>T	2	73717102	73717102	C	T	ALMS1	c.8019C>T	NM_015120.4	NP_055935.4:p.(Phe2673=)	NC_000002.11:g.73717102C>T	(Likely) benign	1 lab	bf7c23a4ef
6:52318749 EFHC1 CT>C	6	52318749	52318758	CT	C	EFHC1	c.724-135del	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52318758del	(Likely) benign	1 lab	bf7df510be
18:60028932 TNFRSF11A C>T	18	60028932	60028932	C	T	TNFRSF11A				NC_000018.9:g.60028932C>T	(Likely) benign	1 lab	bf82338025
16:2143603 PKD1 G>A	16	2143603	2143603	G	A	PKD1	c.10958C>T	NM_001009944.2	NP_001009944.2:p.(Ala3653Val)	NC_000016.9:g.2143603G>A	(Likely) pathogenic	1 lab	bf82671dec
5:147510875 SPINK5 T>A	5	147510875	147510875	T	A	SPINK5	c.3018T>A	NM_006846.3	NP_006837.2:p.(Cys1006Ter)	NC_000005.9:g.147510875T>A	(Likely) pathogenic	1 lab	bf899fed83
5:1432566 SLC6A3 G>A	5	1432566	1432566	G	A	SLC6A3	c.653+13C>T	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1432566G>A	(Likely) benign	1 lab	d6ed95a239
1:5969139 NPHP4 G>A	1	5969139	5969139	G	A	NPHP4	c.1503+73C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5969139G>A	(Likely) benign	1 lab	bf914dcf24
17:33434458 RAD51D T>TTA	17	33434458	33434461	T	TTA	RAD51D	c.270_271dup	NM_002878.4	NP_002869.3:p.(Lys91IlefsTer13)	NC_000017.10:g.33434460_33434461dup	(Likely) pathogenic	1 lab	d6edee9095
10:6061476 IL2RA A>T	10	6061476	6061476	A	T	IL2RA	c.656-14T>A	NM_000417.2	NP_000408.1:p.?	NC_000010.10:g.6061476A>T	(Likely) benign	1 lab	bfa27ace95
X:53223362 KDM5C A>C	X	53223362	53223362	A	C	KDM5C				NC_000023.10:g.53223362A>C	(Likely) benign	1 lab	bfa49c4be9
15:31222820 FAN1 T>C	15	31222820	31222820	T	C	FAN1	c.2862T>C	NM_014967.5	NP_055782.3:p.(Cys954=)	NC_000015.9:g.31222820T>C	(Likely) benign	1 lab	bfa518c097
9:135204624 SETX G>A	9	135204624	135204624	G	A	SETX	c.2361C>T	NM_015046.5	NP_055861.3:p.(Ile787=)	NC_000009.11:g.135204624G>A	(Likely) benign	1 lab	bfa5540fc6
6:49575033 RHAG A>C	6	49575033	49575033	A	C	RHAG	c.1068-100T>G	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49575033A>C	(Likely) benign	1 lab	bfa560e406
22:41077357 MCHR1 G>C	22	41077357	41077357	G	C	MCHR1	c.694G>C	NM_005297.3	NP_005288.3:p.(Val232Leu)	NC_000022.10:g.41077357G>C	(Likely) benign	1 lab	bfa8257284
X:154091490 F8 T>C	X	154091490	154091490	T	C	F8	c.6442A>G	NM_000132.3	NP_000123.1:p.(Asn2148Asp)	NC_000023.10:g.154091490T>C	(Likely) pathogenic	1 lab	bfa99ce521
15:64701858 TRIP4 A>G	15	64701858	64701858	A	G	TRIP4	c.874A>G	NM_016213.5	NP_057297.2:p.(Ser292Gly)	NC_000015.9:g.64701858A>G	(Likely) benign	1 lab	bfabc9f542
9:138648610 KCNT1 C>G	9	138648610	138648610	C	G	KCNT1	c.541-109C>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138648610C>G	(Likely) benign	1 lab	bfad580258
14:23882985 MYH7 G>A	14	23882985	23882985	G	A	MYH7	c.5773C>T	NM_000257.2	NP_000248.2:p.(Arg1925Cys)	NC_000014.8:g.23882985G>A	VUS	1 lab	bfb099e0af
5:251566 SDHA G>A	5	251566	251566	G	A	SDHA	c.1777G>A	NM_004168.4	NP_004159.2:p.(Ala593Thr)	NC_000005.9:g.251566G>A	VUS	1 lab	bfb79134ce
10:127462525 MMP21 A>G	10	127462525	127462525	A	G	MMP21	c.572T>C	NM_147191.1	NP_671724.1:p.(Val191Ala)	NC_000010.10:g.127462525A>G	(Likely) benign	1 lab	bfbe45bb64
5:138857905 STING1 C>A	5	138857905	138857905	C	A	STING1	c.709G>T	NM_198282.4	NP_938023.1:p.(Asp237Tyr)	NC_000005.9:g.138857905C>A	(Likely) benign	1 lab	bfc25d9b11
19:16238945 RAB8A G>A	19	16238945	16238945	G	A	RAB8A	c.480+44G>A	NM_005370.5	NP_005361.2:p.?	NC_000019.9:g.16238945G>A	VUS	1 lab	bfc2af3bac
15:99672658 SYNM G>A	15	99672658	99672658	G	A	SYNM	c.4093G>A	NM_145728.2	NP_663780.2:p.(Val1365Ile)	NC_000015.9:g.99672658G>A	(Likely) benign	1 lab	bfc6cfee62
16:3299770 MEFV T>C	16	3299770	3299770	T	C	MEFV	c.921A>G	NM_000243.2	NP_000234.1:p.(Pro307=)	NC_000016.9:g.3299770T>C	(Likely) benign	1 lab	bfc857a2c7
20:61981654 CHRNA4 C>T	20	61981654	61981654	C	T	CHRNA4	c.1109G>A	NM_000744.6	NP_000735.1:p.(Arg370Gln)	NC_000020.10:g.61981654C>T	(Likely) benign	1 lab	bfca77d922
1:205180622 DSTYK C>G	1	205180622	205180622	C	G	DSTYK	c.42G>C	NM_015375.3	NP_056190.1:p.(Ser14=)	NC_000001.10:g.205180622C>G	(Likely) benign	1 lab	bfca92d98f
9:138650210 KCNT1 T>C	9	138650210	138650210	T	C	KCNT1	c.760-50T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138650210T>C	(Likely) benign	1 lab	bfcfa6fa4e
3:75986622 ROBO2 C>G	3	75986622	75986622	C	G	ROBO2	c.-13-10C>G	NM_001128929.3	NP_001122401.1:p.?	NC_000003.11:g.75986622C>G	(Likely) benign	1 lab	bfd08db710
1:22987523 C1QB C>T	1	22987523	22987523	C	T	C1QB	c.406C>T	NM_000491.3	NP_000482.3:p.(Arg136Trp)	NC_000001.10:g.22987523C>T	(Likely) benign	1 lab	bfd1dc43a9
22:29885372 NEFH C>T	22	29885372	29885372	C	T	NEFH	c.1743C>T	NM_021076.4	NP_066554.2:p.(Pro581=)	NC_000022.10:g.29885372C>T	(Likely) benign	1 lab	bfd2667b9f
12:49441790 KMT2D C>T	12	49441790	49441790	C	T	KMT2D	c.4194G>A	NM_003482.3	NP_003473.3:p.(Ser1398=)	NC_000012.11:g.49441790C>T	(Likely) benign	1 lab	bfd39cd6f2
17:41246862 BRCA1 GA>G	17	41246862	41246866	GA	G	BRCA1	c.685del	NM_007294.4	NP_009225.1:p.(Ser229LeufsTer5)	NC_000017.10:g.41246866del	(Likely) pathogenic	1 lab	bfd3bea5fe
2:216229671 FN1 G>A	2	216229671	216229671	G	A	FN1	c.7182C>T	NM_212482.2	NP_997647.1:p.(His2394=)	NC_000002.11:g.216229671G>A	(Likely) benign	1 lab	bfde53c652
14:101347482 RTL1 C>T	14	101347482	101347482	C	T	RTL1	c.3644G>A	NM_001134888.2	NP_001128360.1:p.(Arg1215His)	NC_000014.8:g.101347482C>T	(Likely) benign	1 lab	bfdef21746
2:179489282 TTN G>C	2	179489282	179489282	G	C	TTN	c.44725C>G	NM_001267550.1	NP_001254479.1:p.(Leu14909Val)	NC_000002.11:g.179489282G>C	VUS	1 lab	bfe2b8b821
X:67331932 OPHN1 G>C	X	67331932	67331932	G	C	OPHN1	c.1421-131C>G	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67331932G>C	(Likely) benign	1 lab	c1884d34a6
4:129857893 SCLT1 C>T	4	129857893	129857893	C	T	SCLT1	c.1746G>A	NM_144643.4	NP_653244.2:p.(Ala582=)	NC_000004.11:g.129857893C>T	(Likely) benign	1 lab	bfe5713966
14:76437943 TGFB3 G>A	14	76437943	76437943	G	A	TGFB3	c.471C>T	NM_003239.2	NP_003230.1:p.(Pro157=)	NC_000014.8:g.76437943G>A	(Likely) benign	1 lab	bfe718d7e7
17:78075908 GAA G>C	17	78075908	78075908	G	C	GAA	c.-33+219G>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78075908G>C	(Likely) benign	1 lab	bfed458c10
6:99284040 POU3F2 G>A	6	99284040	99284040	G	A	POU3F2	c.1291G>A	NM_005604.4	NP_005595.2:p.(Asp431Asn)	NC_000006.11:g.99284040G>A	VUS	1 lab	d6ee8acf68
18:56400705 MALT1 A>T	18	56400705	56400705	A	T	MALT1	c.1299A>T	NM_006785.4	NP_006776.1:p.(Pro433=)	NC_000018.9:g.56400705A>T	(Likely) benign	1 lab	bff0877d46
8:48749068 PRKDC A>G	8	48749068	48749068	A	G	PRKDC	c.7782T>C	NM_006904.6	NP_008835.5:p.(Asp2594=)	NC_000008.10:g.48749068A>G	(Likely) benign	1 lab	bff57bf6f0
1:145281617 NOTCH2NLA T>C	1	145281617	145281617	T	C	NOTCH2NLA	c.586T>C	NM_001364006.1	NP_001350935.1:p.(Tyr196His)	NC_000001.10:g.145281617T>C	VUS	1 lab	d6f134ee82
6:32947425 BRD2 C>CAA	6	32947425	32947426	C	CAA	BRD2	c.1947-180_1947-179insAA	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32947425_32947426insAA	(Likely) benign	1 lab	bffc44fa97
17:40475042 STAT3 C>G	17	40475042	40475042	C	G	STAT3	c.1868G>C	NM_139276.2	NP_644805.1:p.(Trp623Ser)	NC_000017.10:g.40475042C>G	(Likely) benign	1 lab	c00978113d
1:16382966 CLCNKB C>T	1	16382966	16382966	C	T	CLCNKB	c.1979C>T	NM_000085.4	NP_000076.2:p.(Ser660Leu)	NC_000001.10:g.16382966C>T	(Likely) benign	1 lab	c009d5a7f4
17:78083854 GAA G>A	17	78083854	78083854	G	A	GAA	c.1437G>A	NM_000152.3	NP_000143.2:p.(Lys479=)	NC_000017.10:g.78083854G>A	VUS	1 lab	c009f92199
15:48829922 FBN1 GCGTT>G	15	48829922	48829926	GCGTT	G	FBN1	c.618_621del	NM_000138.5	NP_000129.3:p.(Lys206AsnfsTer123)	NC_000015.9:g.48829923_48829926del	(Likely) pathogenic	1 lab	c01611ace4
6:85457763 TBX18 C>T	6	85457763	85457763	C	T	TBX18	c.814G>A	NM_001080508.3	NP_001073977.1:p.(Val272Ile)	NC_000006.11:g.85457763C>T	(Likely) benign	1 lab	c0163de349
15:86123809 AKAP13 C>T	15	86123809	86123809	C	T	AKAP13	c.2510C>T	NM_006738.6	NP_006729.4:p.(Thr837Met)	NC_000015.9:g.86123809C>T	(Likely) benign	1 lab	c01c78d83d
15:85407717 ALPK3 C>T	15	85407717	85407717	C	T	ALPK3	c.5150C>T	NM_020778.4	NP_065829.3:p.(Pro1717Leu)	NC_000015.9:g.85407717C>T	VUS	1 lab	c020bae43c
16:11002904 CIITA G>A	16	11002904	11002904	G	A	CIITA	c.2676G>A	NM_000246.4	NP_000237.2:p.(Thr892=)	NC_000016.9:g.11002904G>A	(Likely) benign	1 lab	d6f73fd093
2:189901554 COL5A2 C>G	2	189901554	189901554	C	G	COL5A2	c.3926-25G>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189901554C>G	(Likely) benign	1 lab	c02e16b118
10:17157609 CUBN C>T	10	17157609	17157609	C	T	CUBN	c.594-13G>A	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17157609C>T	(Likely) benign	1 lab	c02fe7fba5
5:89943617 ADGRV1 T>C	5	89943617	89943617	T	C	ADGRV1	c.3289+36T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89943617T>C	(Likely) benign	1 lab	c033962574
16:56875731 NUP93 G>A	16	56875731	56875731	G	A	NUP93	c.2335G>A	NM_014669.5	NP_055484.3:p.(Glu779Lys)	NC_000016.9:g.56875731G>A	(Likely) benign	1 lab	c037922237
9:98775126 ERCC6L2 A>G	9	98775126	98775126	A	G	ERCC6L2				NC_000009.11:g.98775126A>G	(Likely) benign	1 lab	c0380f3199
2:227919468 COL4A4 G>T	2	227919468	227919468	G	T	COL4A4	c.2717-15C>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227919468G>T	(Likely) benign	1 lab	c038433802
1:146743819 CHD1L C>T	1	146743819	146743819	C	T	CHD1L	c.1160-13C>T	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146743819C>T	(Likely) benign	1 lab	c038be64f8
3:160073781 IFT80 T>C	3	160073781	160073781	T	C	IFT80	c.777+20A>G	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.160073781T>C	(Likely) benign	1 lab	c03afc95b7
6:108197874 SEC63 C>CA	6	108197874	108197893	C	CA	SEC63	c.1936-9dup	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108197893dup	(Likely) benign	1 lab	c056a62cef
1:1958997 GABRD G>C	1	1958997	1958997	G	C	GABRD	c.471-19G>C	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1958997G>C	(Likely) benign	1 lab	c056d4fedd
X:49115886 FOXP3 T>C	X	49115886	49115886	T	C	FOXP3	c.-22-902A>G	NM_014009.3	NP_054728.2:p.?	NC_000023.10:g.49115886T>C	(Likely) benign	1 lab	c057dc5a3b
2:86565139 REEP1 G>A	2	86565139	86565139	G	A	REEP1	c.53+8C>T	NM_001164730.1	NP_001158202.1:p.?	NC_000002.11:g.86565139G>A	(Likely) benign	1 lab	c067c61b2c
10:17147522 CUBN C>T	10	17147522	17147522	C	T	CUBN	c.1164G>A	NM_001081.3	NP_001072.2:p.(Gly388=)	NC_000010.10:g.17147522C>T	(Likely) benign	1 lab	c0690b89a5
3:3189306 TRNT1 T>G	3	3189306	3189306	T	G	TRNT1	c.975T>G	NM_182916.3	NP_886552.3:p.(Phe325Leu)	NC_000003.11:g.3189306T>G	(Likely) benign	1 lab	c06a1fb815
3:10183824 VHL A>G	3	10183824	10183824	A	G	VHL	c.293A>G	NM_000551.3	NP_000542.1:p.(Tyr98Cys)	NC_000003.11:g.10183824A>G	(Likely) pathogenic	1 lab	c06aeb75bf
10:103717493 ARMH3 T>TAA	10	103717493	103717508	T	TAA	ARMH3	c.1496-6_1496-5dup	NM_024541.3	NP_078817.2:p.?	NC_000010.10:g.103717507_103717508dup	(Likely) benign	1 lab	c06b4d2ec8
X:13786356 OFD1 T>C	X	13786356	13786356	T	C	OFD1	c.2928+13T>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13786356T>C	(Likely) benign	1 lab	c06b8f1bae
12:110019267 MVK G>A	12	110019267	110019267	G	A	MVK	c.439G>A	NM_000431.2	NP_000422.1:p.(Ala147Thr)	NC_000012.11:g.110019267G>A	(Likely) pathogenic	1 lab	c06f43d94e
2:241700724 KIF1A C>T	2	241700724	241700724	C	T	KIF1A	c.2187G>A	NM_001244008.1	NP_001230937.1:p.(Thr729=)	NC_000002.11:g.241700724C>T	(Likely) benign	1 lab	c06ffba520
5:94872804 SKIC3 C>T	5	94872804	94872804	C	T	SKIC3	c.585G>A	NM_014639.3	NP_055454.1:p.(Lys195=)	NC_000005.9:g.94872804C>T	(Likely) benign	1 lab	c0726daddb
19:36211374 KMT2B CAAG>C	19	36211374	36211377	CAAG	C	KMT2B	c.1126_1128del	NM_014727.3	NP_055542.1:p.(Lys376del)	NC_000019.9:g.36211375_36211377del	(Likely) benign	1 lab	c07bc4e418
19:54308565 NLRP12 G>T	19	54308565	54308565	G	T	NLRP12	c.2383C>A	NM_144687.4	NP_653288.1:p.(Arg795=)	NC_000019.9:g.54308565G>T	(Likely) benign	1 lab	c082434b8b
20:2384325 TGM6 G>A	20	2384325	2384325	G	A	TGM6	c.1192G>A	NM_198994.3	NP_945345.2:p.(Asp398Asn)	NC_000020.10:g.2384325G>A	VUS	1 lab	d70124c8a7
15:77317773 PSTPIP1 G>A	15	77317773	77317773	G	A	PSTPIP1	c.248-66G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77317773G>A	(Likely) benign	1 lab	c083a9eaa0
2:9658085 ADAM17 T>C	2	9658085	9658085	T	C	ADAM17	c.1136A>G	NM_003183.6	NP_003174.3:p.(Tyr379Cys)	NC_000002.11:g.9658085T>C	VUS	1 lab	d701687a23
10:97440406 TCTN3 T>C	10	97440406	97440406	T	C	TCTN3	c.1453-40A>G	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97440406T>C	(Likely) benign	1 lab	c0906129da
14:23873940 MYH6 CCTT>C	14	23873940	23873946	CCTT	C	MYH6	c.619_621del	NM_002471.4	NP_002462.2:p.(Lys207del)	NC_000014.8:g.23873944_23873946del	VUS	1 lab	c09d076f27
9:113449502 MUSK T>C	9	113449502	113449502	T	C	MUSK	c.312T>C	NM_005592.4	NP_005583.1:p.(Gly104=)	NC_000009.11:g.113449502T>C	(Likely) benign	1 lab	c0a44d3701
17:41262604 BRCA1 CAA>C	17	41262604	41262621	CAA	C	BRCA1	c.135-4056_135-4055del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41262620_41262621del	(Likely) benign	1 lab	c0a5ae05d9
9:37034023 PAX5 A>T	9	37034023	37034023	A	T	PAX5	c.6T>A	NM_016734.3	NP_057953.1:p.(Asp2Glu)	NC_000009.11:g.37034023A>T	(Likely) benign	1 lab	c0aaf39381
7:70240520 AUTS2 T>C	7	70240520	70240520	T	C	AUTS2	c.1932+148T>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70240520T>C	(Likely) benign	1 lab	c0abecf205
4:79295419 FRAS1 T>TTG	4	79295419	79295420	T	TTG	FRAS1	c.3151+14_3151+15insTG	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79295419_79295420insTG	(Likely) benign	1 lab	c0aca9a48c
8:23560511 NKX2-6 C>G	8	23560511	23560511	C	G	NKX2-6	c.359G>C	NM_001136271.2	NP_001129743.2:p.(Arg120Pro)	NC_000008.10:g.23560511C>G	(Likely) benign	1 lab	c0afb9220e
2:202093682 CASP10 T>G	2	202093682	202093682	T	G	CASP10	c.1442T>G	NM_032974.5	NP_116756.2:p.(Met481Arg)	NC_000002.11:g.202093682T>G	(Likely) benign	1 lab	c0b3c40799
5:161281462 GABRA1 A>T	5	161281462	161281462	A	T	GABRA1	c.187+186A>T	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161281462A>T	(Likely) benign	1 lab	c0bba92ae2
18:33785103 MOCOS CCT>C	18	33785103	33785110	CCT	C	MOCOS	c.1088_1089del	NM_017947.4	NP_060417.4:p.(Leu363ProfsTer16)	NC_000018.9:g.33785109_33785110del	(Likely) pathogenic	1 lab	c0c09e4b45
11:2594115 KCNQ1 ATCT>A	11	2594115	2594121	ATCT	A	KCNQ1	c.824_826del	NM_000218.3	NP_000209.2:p.(Phe275del)	NC_000011.9:g.2594119_2594121del	(Likely) pathogenic	1 lab	c0c529377a
X:154133292 F8 A>C	X	154133292	154133292	A	C	F8	c.5380T>G	NM_000132.3	NP_000123.1:p.(Phe1794Val)	NC_000023.10:g.154133292A>C	(Likely) pathogenic	1 lab	c0c85f8798
2:98354511 ZAP70 G>A	2	98354511	98354511	G	A	ZAP70	c.1677G>A	NM_001079.3	NP_001070.2:p.(Glu559=)	NC_000002.11:g.98354511G>A	(Likely) benign	1 lab	c0cbb17ba0
12:110024488 MVK A>G	12	110024488	110024488	A	G	MVK	c.632-71A>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110024488A>G	(Likely) benign	1 lab	c0cd8635f2
1:158655028 SPTA1 C>G	1	158655028	158655028	C	G	SPTA1	c.134G>C	NM_003126.3	NP_003117.2:p.(Arg45Thr)	NC_000001.10:g.158655028C>G	(Likely) pathogenic	1 lab	c0cebb7ad3
2:179629246 TTN A>G	2	179629246	179629246	A	G	TTN	c.9850+8T>C	NM_133432.3	NP_597676.3:p.?	NC_000002.11:g.179629246A>G	(Likely) benign	1 lab	c0d362bb2f
2:179544091 TTN T>C	2	179544091	179544091	T	C	TTN	c.33717A>G	NM_001267550.2	NP_001254479.2:p.(Lys11239=)	NC_000002.11:g.179544091T>C	(Likely) benign	1 lab	d704e26a2c
19:1395503 NDUFS7 C>T	19	1395503	1395503	C	T	NDUFS7	c.*16C>T	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1395503C>T	VUS	1 lab	d70501557f
13:39426038 FREM2 A>G	13	39426038	39426038	A	G	FREM2	c.6925+33A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39426038A>G	(Likely) benign	1 lab	c0d839cbbc
22:37159996 IFT27 C>T	22	37159996	37159996	C	T	IFT27	c.316G>A	NM_006860.5	NP_006851.1:p.(Ala106Thr)	NC_000022.10:g.37159996C>T	(Likely) benign	1 lab	c0d990cc2b
1:154245266 HAX1 C>T	1	154245266	154245266	C	T	HAX1	c.53+14C>T	NM_006118.3	NP_006109.2:p.?	NC_000001.10:g.154245266C>T	(Likely) benign	1 lab	c0dbf3bb7d
9:5022085 JAK2 A>C	9	5022085	5022085	A	C	JAK2	c.98A>C	NM_004972.4	NP_004963.1:p.(Lys33Thr)	NC_000009.11:g.5022085A>C	VUS	1 lab	d70b8b75c9
11:64022694 PLCB3 C>T	11	64022694	64022694	C	T	PLCB3	c.388-12C>T	NM_000932.3	NP_000923.1:p.?	NC_000011.9:g.64022694C>T	(Likely) benign	1 lab	c0e073a904
10:78709062 KCNMA1 G>A	10	78709062	78709062	G	A	KCNMA1	c.2385C>T	NM_001014797.3	NP_001014797.1:p.(Asp795=)	NC_000010.10:g.78709062G>A	(Likely) benign	1 lab	c0e18809d6
16:2159982 PKD1 G>A	16	2159982	2159982	G	A	PKD1	c.5186C>T	NM_001009944.2	NP_001009944.2:p.(Pro1729Leu)	NC_000016.9:g.2159982G>A	VUS	1 lab	c0e2d559d5
19:13414554 CACNA1A C>T	19	13414554	13414554	C	T	CACNA1A	c.2107+27G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13414554C>T	(Likely) benign	1 lab	c0e3655308
X:111000987 ALG13 A>G	X	111000987	111000987	A	G	ALG13	c.3145A>G	NM_001099922.3	NP_001093392.1:p.(Asn1049Asp)	NC_000023.10:g.111000987A>G	(Likely) benign	1 lab	c0e54847fd
7:156802746 MNX1 C>G	7	156802746	156802746	C	G	MNX1	c.299G>C	NM_005515.4	NP_005506.3:p.(Gly100Ala)	NC_000007.13:g.156802746C>G	VUS	1 lab	c0e693b074
1:207940932 CD46 A>T	1	207940932	207940932	A	T	CD46	c.857-20A>T	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207940932A>T	(Likely) benign	1 lab	c0e6d117fd
13:32907517 BRCA2 T>G	13	32907517	32907517	T	G	BRCA2	c.1902T>G	NM_000059.3	NP_000050.2:p.(Ala634=)	NC_000013.10:g.32907517T>G	(Likely) benign	1 lab	c0e6fbb361
16:8858700 ABAT G>GCACA	16	8858700	8858722	G	GCACA	ABAT	c.540+32_540+35dup	NM_020686.6	NP_065737.2:p.?	NC_000016.9:g.8858719_8858722dup	(Likely) benign	1 lab	c0eb6238d1
15:93488926 CHD2 ATT>A	15	93488926	93488938	ATT	A	CHD2	c.1154-114_1154-113del	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93488937_93488938del	(Likely) benign	1 lab	c0edb10ec1
1:78407820 NEXN A>C	1	78407820	78407820	A	C	NEXN	c.1586A>C	NM_144573.3	NP_653174.3:p.(Gln529Pro)	NC_000001.10:g.78407820A>C	VUS	1 lab	c0eed41f8e
9:139399992 NOTCH1 G>A	9	139399992	139399992	G	A	NOTCH1	c.4356C>T	NM_017617.5	NP_060087.3:p.(Pro1452=)	NC_000009.11:g.139399992G>A	(Likely) benign	1 lab	c0f6c2e5fd
13:39266647 FREM2 C>A	13	39266647	39266647	C	A	FREM2	c.5166C>A	NM_207361.6	NP_997244.4:p.(Phe1722Leu)	NC_000013.10:g.39266647C>A	VUS	1 lab	c0faf22069
18:34229312 FHOD3 G>A	18	34229312	34229312	G	A	FHOD3	c.1197-8726G>A	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34229312G>A	(Likely) benign	1 lab	d70e63399e
18:2960512 LPIN2 TA>T	18	2960512	2960525	TA	T	LPIN2	c.192+134del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2960525del	(Likely) benign	1 lab	c1020fe3de
2:109276221 LIMS1 G>T	2	109276221	109276221	G	T	LIMS1	c.342+1G>T	NM_001193485.3	NP_001180414.1:p.?	NC_000002.11:g.109276221G>T	(Likely) benign	1 lab	c10275dba3
11:126139100 FOXRED1 T>C	11	126139100	126139100	T	C	FOXRED1	c.-2T>C	NM_017547.4	NP_060017.1:p.?	NC_000011.9:g.126139100T>C	(Likely) benign	1 lab	d70e790326
17:5462674 NLRP1 T>C	17	5462674	5462674	T	C	NLRP1	c.1342A>G	NM_033004.4	NP_127497.1:p.(Ile448Val)	NC_000017.10:g.5462674T>C	(Likely) benign	1 lab	c10a065f75
1:181706778 CACNA1E G>A	1	181706778	181706778	G	A	CACNA1E	c.3540G>A	NM_000721.4	NP_000712.2:p.(Ser1180=)	NC_000001.10:g.181706778G>A	(Likely) benign	1 lab	c13560f5a9
2:152830111 CACNB4 G>A	2	152830111	152830111	G	A	CACNB4	c.45+72C>T	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152830111G>A	(Likely) benign	1 lab	c10bd474cf
2:166852552 SCN1A T>C	2	166852552	166852552	T	C	SCN1A	c.4552A>G	NM_001165963.3	NP_001159435.1:p.(Lys1518Glu)	NC_000002.11:g.166852552T>C	(Likely) pathogenic	1 lab	c10cde49ac
19:52249390 FPR1 T>C	19	52249390	52249390	T	C	FPR1	c.858A>G	NM_002029.3	NP_002020.1:p.(Thr286=)	NC_000019.9:g.52249390T>C	(Likely) benign	1 lab	c10d4543a4
2:166188008 SCN2A C>T	2	166188008	166188008	C	T	SCN2A	c.2318C>T	NM_021007.3	NP_066287.2:p.(Thr773Ile)	NC_000002.11:g.166188008C>T	(Likely) pathogenic	1 lab	c10e90e90d
16:31474132 ARMC5 G>A	16	31474132	31474132	G	A	ARMC5	c.1264G>A	NM_001105247.2	NP_001098717.1:p.(Gly422Ser)	NC_000016.9:g.31474132G>A	(Likely) benign	1 lab	d70f218ec0
2:227927246 COL4A4 C>G	2	227927246	227927246	C	G	COL4A4	c.2056G>C	NM_000092.4	NP_000083.3:p.(Gly686Arg)	NC_000002.11:g.227927246C>G	(Likely) pathogenic	1 lab	c1180a00f7
16:27789293 KATNIP C>T	16	27789293	27789293	C	T	KATNIP	c.4801+3C>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27789293C>T	(Likely) benign	1 lab	c119515465
2:217293368 SMARCAL1 G>A	2	217293368	217293368	G	A	SMARCAL1	c.1197G>A	NM_014140.3	NP_054859.2:p.(Thr399=)	NC_000002.11:g.217293368G>A	(Likely) benign	1 lab	c120b07943
19:41306666 EGLN2 C>G	19	41306666	41306666	C	G	EGLN2	c.189C>G	NM_080732.4	NP_542770.2:p.(Thr63=)	NC_000019.9:g.41306666C>G	(Likely) benign	1 lab	c126a08f95
14:65270272 SPTB C>A	14	65270272	65270272	C	A	SPTB	c.474+53G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65270272C>A	(Likely) benign	1 lab	c12b44a2a6
16:2549385 TBC1D24 G>T	16	2549385	2549385	G	T	TBC1D24	c.1170G>T	NM_001199107.2	NP_001186036.1:p.(Glu390Asp)	NC_000016.9:g.2549385G>T	(Likely) pathogenic	1 lab	c12b47f1d1
1:240370947 FMN2 GC>G	1	240370947	240370952	GC	G	FMN2	c.2840del	NM_020066.5	NP_064450.3:p.(Pro947LeufsTer328)	NC_000001.10:g.240370952del	VUS	1 lab	d712397264
18:29126630 DSG2 G>A	18	29126630	29126630	G	A	DSG2	c.3281G>A	NM_001943.3	NP_001934.2:p.(Gly1094Asp)	NC_000018.9:g.29126630G>A	(Likely) benign	1 lab	c135cb859e
1:120491644 NOTCH2 G>A	1	120491644	120491644	G	A	NOTCH2	c.2585C>T	NM_024408.4	NP_077719.2:p.(Ala862Val)	NC_000001.10:g.120491644G>A	(Likely) benign	1 lab	c138c6efc7
5:90046189 ADGRV1 CAT>C	5	90046189	90046191	CAT	C	ADGRV1	c.10975-178_10975-177del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90046190_90046191del	(Likely) benign	1 lab	c13af28ac2
19:55447617 NLRP7 C>T	19	55447617	55447617	C	T	NLRP7	c.2300+12G>A	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55447617C>T	(Likely) benign	1 lab	c14032d8ff
5:169507155 DOCK2 G>A	5	169507155	169507155	G	A	DOCK2	c.5167-12G>A	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169507155G>A	(Likely) benign	1 lab	c140e37f63
18:28992822 DSG4 G>T	18	28992822	28992822	G	T	DSG4	c.2444G>T	NM_001134453.3	NP_001127925.1:p.(Gly815Val)	NC_000018.9:g.28992822G>T	VUS	1 lab	d719574b11
9:138670170 KCNT1 G>A	9	138670170	138670170	G	A	KCNT1	c.2523-100G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138670170G>A	(Likely) benign	1 lab	c14e16f05f
20:18505674 SEC23B C>T	20	18505674	18505674	C	T	SEC23B	c.689+10C>T	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18505674C>T	(Likely) benign	1 lab	c1503ea8e7
16:23619332 PALB2 C>T	16	23619332	23619332	C	T	PALB2	c.3203G>A	NM_024675.3	NP_078951.2:p.(Gly1068Glu)	NC_000016.9:g.23619332C>T	VUS	1 lab	c152ccbfb7
2:219892500 CFAP65 G>A	2	219892500	219892500	G	A	CFAP65	c.2083C>T	NM_194302.4	NP_919278.2:p.(Pro695Ser)	NC_000002.11:g.219892500G>A	VUS	1 lab	d71e78fa54
15:86123851 AKAP13 C>T	15	86123851	86123851	C	T	AKAP13	c.2552C>T	NM_006738.6	NP_006729.4:p.(Ser851Phe)	NC_000015.9:g.86123851C>T	(Likely) benign	1 lab	c1632cef88
20:31022625 ASXL1 G>A	20	31022625	31022625	G	A	ASXL1	c.2110G>A	NM_015338.6	NP_056153.2:p.(Gly704Arg)	NC_000020.10:g.31022625G>A	(Likely) benign	1 lab	d71e7d6500
4:79387442 FRAS1 C>T	4	79387442	79387442	C	T	FRAS1	c.7110C>T	NM_025074.7	NP_079350.5:p.(His2370=)	NC_000004.11:g.79387442C>T	(Likely) benign	1 lab	c16d78b050
18:33828916 MOCOS A>G	18	33828916	33828916	A	G	MOCOS	c.1992A>G	NM_017947.4	NP_060417.4:p.(Glu664=)	NC_000018.9:g.33828916A>G	(Likely) benign	1 lab	c16df2a09a
9:14784433 FREM1 A>G	9	14784433	14784433	A	G	FREM1	c.4377T>C	NM_144966.5	NP_659403.4:p.(Asp1459=)	NC_000009.11:g.14784433A>G	(Likely) benign	1 lab	c16fb4fe30
16:81953082 PLCG2 G>A	16	81953082	81953082	G	A	PLCG2	c.2055-7G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81953082G>A	(Likely) benign	1 lab	c17775b867
8:65517279 CYP7B1 G>GGA	8	65517279	65517282	G	GGA	CYP7B1	c.1191_1192dup	NM_004820.5	NP_004811.1:p.(Pro398LeufsTer23)	NC_000008.10:g.65517281_65517282dup	(Likely) pathogenic	1 lab	c17a2c1721
10:95095818 MYOF C>T	10	95095818	95095818	C	T	MYOF	c.4438-15G>A	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95095818C>T	(Likely) benign	1 lab	c17a8062d1
2:169824949 ABCB11 T>C	2	169824949	169824949	T	C	ABCB11	c.2063A>G	NM_003742.4	NP_003733.2:p.(Gln688Arg)	NC_000002.11:g.169824949T>C	(Likely) benign	1 lab	c18125e097
4:123663836 BBS12 C>A	4	123663836	123663836	C	A	BBS12	c.789C>A	NM_152618.3	NP_689831.2:p.(Tyr263Ter)	NC_000004.11:g.123663836C>A	(Likely) pathogenic	1 lab	c182bd2f7d
12:110017750 MVK A>T	12	110017750	110017750	A	T	MVK	c.370A>T	NM_000431.2	NP_000422.1:p.(Arg124Trp)	NC_000012.11:g.110017750A>T	VUS	1 lab	c182e4ba23
14:59105157 DACT1 G>C	14	59105157	59105157	G	C	DACT1	c.237G>C	NM_016651.6	NP_057735.2:p.(Ala79=)	NC_000014.8:g.59105157G>C	(Likely) benign	1 lab	c186bbec2f
17:73726940 ITGB4 G>A	17	73726940	73726940	G	A	ITGB4	c.1003-16G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73726940G>A	(Likely) benign	1 lab	c189b962ad
7:128494176 FLNC C>T	7	128494176	128494176	C	T	FLNC	c.6633C>T	NM_001458.4	NP_001449.3:p.(Thr2211=)	NC_000007.13:g.128494176C>T	(Likely) benign	1 lab	c189fae099
22:32194491 DEPDC5 A>G	22	32194491	32194491	A	G	DEPDC5	c.872-77A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32194491A>G	(Likely) benign	1 lab	c18c662973
X:147014040 FMR1 C>T	X	147014040	147014040	C	T	FMR1	c.727C>T	NM_002024.5	NP_002015.1:p.(Gln243Ter)	NC_000023.10:g.147014040C>T	(Likely) pathogenic	1 lab	c18cf7c10e
6:144508593 STX11 A>G	6	144508593	144508593	A	G	STX11	c.829A>G	NM_003764.3	NP_003755.2:p.(Thr277Ala)	NC_000006.11:g.144508593A>G	(Likely) benign	1 lab	c18f2bf9e9
17:41243657 BRCA1 A>C	17	41243657	41243657	A	C	BRCA1	c.3891T>G	NM_007294.3	NP_009225.1:p.(Ser1297=)	NC_000017.10:g.41243657A>C	(Likely) benign	1 lab	c19538ac6c
15:73615977 HCN4 G>A	15	73615977	73615977	G	A	HCN4	c.2457C>T	NM_005477.3	NP_005468.1:p.(Ala819=)	NC_000015.9:g.73615977G>A	(Likely) benign	1 lab	c195b354d0
7:135300783 NUP205 C>G	7	135300783	135300783	C	G	NUP205	c.3430C>G	NM_015135.2	NP_055950.1:p.(Leu1144Val)	NC_000007.13:g.135300783C>G	(Likely) benign	1 lab	c1972623de
17:61573738 ACE G>T	17	61573738	61573738	G	T	ACE	c.3381-17G>T	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61573738G>T	(Likely) benign	1 lab	c197870fa9
4:149002663 NR3C2 C>CACAGGGGGCATG	4	149002663	149002678	C	CACAGGGGGCATG	NR3C2	c.2800-25_2800-14dup	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149002667_149002678dup	(Likely) benign	1 lab	c1979ac14d
18:47721162 MYO5B A>T	18	47721162	47721162	A	T	MYO5B	c.2T>A	NM_001080467.3	NP_001073936.1:p.(Met1?)	NC_000018.9:g.47721162A>T	(Likely) pathogenic	1 lab	c19e3a109d
10:112540766 RBM20 C>T	10	112540766	112540766	C	T	RBM20	c.399C>T	NM_001134363.1	NP_001127835.1:p.(Leu133=)	NC_000010.10:g.112540766C>T	(Likely) benign	1 lab	c19fa65e7b
5:90073897 ADGRV1 T>C	5	90073897	90073897	T	C	ADGRV1	c.12666+37T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90073897T>C	(Likely) benign	1 lab	c1a0493065
16:3297233 MEFV G>A	16	3297233	3297233	G	A	MEFV	c.1370C>T	NM_000243.2	NP_000234.1:p.(Ala457Val)	NC_000016.9:g.3297233G>A	VUS	1 lab	c1a3b21195
1:161514759 FCGR3A C>CAG	1	161514759	161514762	C	CAG	FCGR3A	c.635-13_635-12dup	NM_000569.7	NP_000560.6:p.?	NC_000001.10:g.161514761_161514762dup	(Likely) benign	1 lab	c1a4cfc4dd
17:71192663 COG1 G>A	17	71192663	71192663	G	A	COG1	c.333G>A	NM_018714.3	NP_061184.1:p.(Gln111=)	NC_000017.10:g.71192663G>A	(Likely) benign	1 lab	d721e509d3
1:181702679 CACNA1E G>A	1	181702679	181702679	G	A	CACNA1E	c.3055G>A	NM_000721.4	NP_000712.2:p.(Val1019Met)	NC_000001.10:g.181702679G>A	(Likely) benign	1 lab	c1ab154221
10:17142088 CUBN C>T	10	17142088	17142088	C	T	CUBN	c.1681G>A	NM_001081.3	NP_001072.2:p.(Asp561Asn)	NC_000010.10:g.17142088C>T	(Likely) benign	1 lab	c1b96d0d63
6:36653597 CDKN1A C>T	6	36653597	36653597	C	T	CDKN1A	c.*20C>T	NM_001220778.2	NP_001207707.1:p.?	NC_000006.11:g.36653597C>T	(Likely) benign	1 lab	c1ba7e7edd
9:138660400 KCNT1 G>A	9	138660400	138660400	G	A	KCNT1	c.1338-56G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660400G>A	(Likely) benign	1 lab	c1c33cef0f
10:75842315 VCL T>C	10	75842315	75842315	T	C	VCL	c.874+13T>C	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75842315T>C	(Likely) benign	1 lab	c1c6d69af3
1:154540769 CHRNB2 G>A	1	154540769	154540769	G	A	CHRNB2	c.64+185G>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154540769G>A	(Likely) benign	1 lab	c1cfd1a10e
12:102069072 MYBPC1 C>T	12	102069072	102069072	C	T	MYBPC1	c.2812C>T	NM_002465.4	NP_002456.2:p.(Arg938Cys)	NC_000012.11:g.102069072C>T	VUS	1 lab	d726244b4b
17:45886437 OSBPL7 C>T	17	45886437	45886437	C	T	OSBPL7	c.2170+5G>A	NM_145798.3	NP_665741.1:p.?	NC_000017.10:g.45886437C>T	VUS	1 lab	d72683a1c2
X:24721484 POLA1 G>A	X	24721484	24721484	G	A	POLA1	c.247+20G>A	NM_016937.4	NP_058633.2:p.?	NC_000023.10:g.24721484G>A	(Likely) benign	1 lab	c1df32f0f6
19:10490472 TYK2 C>A	19	10490472	10490472	C	A	TYK2	c.-185-17G>T	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10490472C>A	(Likely) benign	1 lab	c1e2adb2f8
1:1458107 ATAD3A C>T	1	1458107	1458107	C	T	ATAD3A	c.751-17C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1458107C>T	(Likely) benign	1 lab	c1e4b40048
16:3304640 MEFV C>G	16	3304640	3304640	C	G	MEFV	c.428G>C	NM_000243.2	NP_000234.1:p.(Arg143Pro)	NC_000016.9:g.3304640C>G	VUS	1 lab	c1e61f0f13
5:153857308 HAND1 C>A	5	153857308	153857308	C	A	HAND1	c.261G>T	NM_004821.3	NP_004812.1:p.(Ala87=)	NC_000005.9:g.153857308C>A	(Likely) benign	1 lab	c1e853bc5c
4:2835412 SH3BP2 C>A	4	2835412	2835412	C	A	SH3BP2	c.1633-12C>A	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2835412C>A	(Likely) benign	1 lab	c1eb72a638
14:65271600 SPTB C>A	14	65271600	65271600	C	A	SPTB	c.300+57G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271600C>A	(Likely) benign	1 lab	c1fa3ffa72
6:15663118 DTNBP1 T>C	6	15663118	15663118	T	C	DTNBP1	n.142A>G	NR_036448.3		NC_000006.11:g.15663118T>C	(Likely) benign	1 lab	d72a417f5f
6:133767899 EYA4 G>T	6	133767899	133767899	G	T	EYA4	c.208+7G>T	NM_001301013.1	NP_001287942.1:p.?	NC_000006.11:g.133767899G>T	(Likely) benign	1 lab	c1fe11f841
12:52308240 ACVRL1 G>A	12	52308240	52308240	G	A	ACVRL1	c.643G>A	NM_000020.2	NP_000011.2:p.(Glu215Lys)	NC_000012.11:g.52308240G>A	VUS	1 lab	c1ffc3d61b
16:2141581 PKD1 AG>A	16	2141581	2141583	AG	A	PKD1	c.11554del	NM_001009944.3	NP_001009944.3:p.(Leu3852TrpfsTer93)	NC_000016.9:g.2141583del	(Likely) pathogenic	1 lab	c201e335ab
2:27305787 EMILIN1 G>A	2	27305787	27305787	G	A	EMILIN1	c.1348G>A	NM_007046.4	NP_008977.1:p.(Gly450Arg)	NC_000002.11:g.27305787G>A	(Likely) benign	1 lab	c20ae072d9
15:25616093 UBE3A A>G	15	25616093	25616093	A	G	UBE3A	c.1168T>C	NM_130838.1	NP_570853.1:p.(Leu390=)	NC_000015.9:g.25616093A>G	(Likely) benign	1 lab	c20b7d2c00
2:179454007 TTN T>C	2	179454007	179454007	T	C	TTN	c.62445A>G	NM_001267550.1	NP_001254479.1:p.(Ser20815=)	NC_000002.11:g.179454007T>C	(Likely) benign	1 lab	c20f3e4bd8
1:62718864 KANK4 G>A	1	62718864	62718864	G	A	KANK4	c.2557C>T	NM_181712.5	NP_859063.3:p.(His853Tyr)	NC_000001.10:g.62718864G>A	(Likely) benign	1 lab	c2164e79dd
15:35087000 ACTC1 C>T	15	35087000	35087000	C	T	ACTC1	c.10G>A	NM_005159.4	NP_005150.1:p.(Asp4Asn)	NC_000015.9:g.35087000C>T	VUS	1 lab	c2168ec2c1
13:35683448 NBEA A>G	13	35683448	35683448	A	G	NBEA	c.1702A>G	NM_015678.4	NP_056493.3:p.(Arg568Gly)	NC_000013.10:g.35683448A>G	VUS	1 lab	c21d3e31a5
19:12924017 RNASEH2A T>C	19	12924017	12924017	T	C	RNASEH2A	c.758T>C	NM_006397.2	NP_006388.2:p.(Ile253Thr)	NC_000019.9:g.12924017T>C	(Likely) benign	1 lab	c2229be21e
14:102449777 DYNC1H1 A>G	14	102449777	102449777	A	G	DYNC1H1	c.1292A>G	NM_001376.4	NP_001367.2:p.(Gln431Arg)	NC_000014.8:g.102449777A>G	(Likely) benign	1 lab	c224ee3b31
2:228159943 COL4A3 G>A	2	228159943	228159943	G	A	COL4A3	c.3518-42G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159943G>A	(Likely) benign	1 lab	c22ac32667
1:209799075 LAMB3 C>T	1	209799075	209799075	C	T	LAMB3	c.1894G>A	NM_000228.3	NP_000219.2:p.(Glu632Lys)	NC_000001.10:g.209799075C>T	VUS	1 lab	d72ddd52ab
12:53455986 TNS2 C>T	12	53455986	53455986	C	T	TNS2	c.3654C>T	NM_015319.2	NP_056134.2:p.(Pro1218=)	NC_000012.11:g.53455986C>T	(Likely) benign	1 lab	c22ce8c91d
7:2583451 BRAT1 G>A	7	2583451	2583451	G	A	BRAT1	c.576C>T	NM_152743.4	NP_689956.2:p.(Pro192=)	NC_000007.13:g.2583451G>A	(Likely) benign	1 lab	c22dc54f62
3:53774345 CACNA1D T>C	3	53774345	53774345	T	C	CACNA1D	c.2850T>C	NM_000720.4	NP_000711.1:p.(Phe950=)	NC_000003.11:g.53774345T>C	(Likely) benign	1 lab	c23163cfbd
18:48458594 ME2 T>G	18	48458594	48458594	T	G	ME2	c.1315-34T>G	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48458594T>G	(Likely) benign	1 lab	c233d441e3
8:133459227 KCNQ3 G>C	8	133459227	133459227	G	C	KCNQ3	c.386+33167C>G	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133459227G>C	(Likely) benign	1 lab	c2374bb744
7:73085471 VPS37D G>A	7	73085471	73085471	G	A	VPS37D	c.521G>A	NM_001077621.2	NP_001071089.1:p.(Arg174His)	NC_000007.13:g.73085471G>A	VUS	1 lab	d730513992
12:88533290 CEP290 C>T	12	88533290	88533290	C	T	CEP290	c.232G>A	NM_025114.4	NP_079390.3:p.(Glu78Lys)	NC_000012.11:g.88533290C>T	VUS	1 lab	d7325c3bcd
2:31621475 XDH C>T	2	31621475	31621475	C	T	XDH	c.397G>A	NM_000379.4	NP_000370.2:p.(Glu133Lys)	NC_000002.11:g.31621475C>T	(Likely) benign	1 lab	c23ff5b906
4:79434487 FRAS1 G>A	4	79434487	79434487	G	A	FRAS1	c.10014-59G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79434487G>A	(Likely) benign	1 lab	c31c951364
13:35770069 NBEA G>A	13	35770069	35770069	G	A	NBEA	c.4996G>A	NM_015678.4	NP_056493.3:p.(Val1666Ile)	NC_000013.10:g.35770069G>A	(Likely) benign	1 lab	c2418098a3
16:8904954 PMM2 C>T	16	8904954	8904954	C	T	PMM2	c.366C>T	NM_000303.3	NP_000294.1:p.(Phe122=)	NC_000016.9:g.8904954C>T	(Likely) benign	1 lab	c24a306ca5
11:118221409 CD3G G>A	11	118221409	118221409	G	A	CD3G	c.439+11G>A	NM_000073.2	NP_000064.1:p.?	NC_000011.9:g.118221409G>A	(Likely) benign	1 lab	c24c488298
22:40749073 ADSL G>A	22	40749073	40749073	G	A	ADSL	c.358-4G>A	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40749073G>A	(Likely) benign	1 lab	c250ffdf65
16:3293226 MEFV G>C	16	3293226	3293226	G	C	MEFV	c.2261C>G	NM_000243.2	NP_000234.1:p.(Pro754Arg)	NC_000016.9:g.3293226G>C	VUS	1 lab	c2fcec7992
15:65369770 KBTBD13 C>T	15	65369770	65369770	C	T	KBTBD13	c.617C>T	NM_001101362.2	NP_001094832.1:p.(Thr206Met)	NC_000015.9:g.65369770C>T	(Likely) benign	1 lab	c25db90617
4:126411358 FAT4 A>T	4	126411358	126411358	A	T	FAT4				NC_000004.11:g.126411358A>T	(Likely) benign	1 lab	c2622f547a
6:152469433 SYNE1 G>C	6	152469433	152469433	G	C	SYNE1	c.24723C>G	NM_182961.4	NP_892006.3:p.(His8241Gln)	NC_000006.11:g.152469433G>C	(Likely) benign	1 lab	c26275e0ed
1:158639439 SPTA1 C>A	1	158639439	158639439	C	A	SPTA1	c.1677+60G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158639439C>A	(Likely) benign	1 lab	c2635227d5
3:42733831 KLHL40 T>G	3	42733831	42733831	T	G	KLHL40	c.*346=	NM_152393.4	NP_689606.2:p.?	NC_000003.11:g.42733831T>G	(Likely) benign	1 lab	c269e03866
1:201063039 CACNA1S A>G	1	201063039	201063039	A	G	CACNA1S	c.369T>C	NM_000069.3	NP_000060.2:p.(Asn123=)	NC_000001.10:g.201063039A>G	(Likely) benign	1 lab	c26a8c77f6
X:100615579 BTK C>T	X	100615579	100615579	C	T	BTK	c.753G>A	NM_000061.2	NP_000052.1:p.(Trp251Ter)	NC_000023.10:g.100615579C>T	(Likely) pathogenic	1 lab	c26b0d0325
11:27384741 CCDC34 T>C	11	27384741	27384741	T	C	CCDC34	c.1A>G	NM_030771.2	NP_110398.1:p.(Met1?)	NC_000011.9:g.27384741T>C	(Likely) pathogenic	1 lab	c26f6f43bd
1:167787314 ADCY10 AG>A	1	167787314	167787315	AG	A	ADCY10	c.4477del	NM_018417.6	NP_060887.2:p.(Leu1493SerfsTer24)	NC_000001.10:g.167787315del	(Likely) pathogenic	1 lab	c272371a84
2:48026348 MSH6 G>A	2	48026348	48026348	G	A	MSH6	c.1226G>A	NM_000179.3	NP_000170.1:p.(Gly409Glu)	NC_000002.11:g.48026348G>A	VUS	1 lab	d735d3c71a
14:77494130 IRF2BPL C>G	14	77494130	77494130	C	G	IRF2BPL	c.6G>C	NM_024496.4	NP_078772.1:p.(Ser2=)	NC_000014.8:g.77494130C>G	(Likely) benign	1 lab	c276167f40
9:14797414 FREM1 A>AAC	9	14797414	14797415	A	AAC	FREM1	c.3839+81_3839+82insGT	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14797414_14797415insAC	(Likely) benign	1 lab	c2763250db
16:3293681 MEFV C>A	16	3293681	3293681	C	A	MEFV	c.1806G>T	NM_000243.2	NP_000234.1:p.(Leu602=)	NC_000016.9:g.3293681C>A	(Likely) benign	1 lab	c2768dd83e
12:6443274 TNFRSF1A C>A	12	6443274	6443274	C	A	TNFRSF1A	c.176G>T	NM_001065.3	NP_001056.1:p.(Cys59Phe)	NC_000012.11:g.6443274C>A	(Likely) pathogenic	1 lab	c276dd794c
8:145739375 RECQL4 G>A	8	145739375	145739375	G	A	RECQL4	c.1995C>T	NM_004260.3	NP_004251.3:p.(His665=)	NC_000008.10:g.145739375G>A	(Likely) benign	1 lab	c279ceab97
3:9934912 JAGN1 G>A	3	9934912	9934912	G	A	JAGN1	c.403G>A	NM_032492.4	NP_115881.3:p.(Ala135Thr)	NC_000003.11:g.9934912G>A	(Likely) benign	1 lab	c27b69a0f6
3:195782037 TFRC C>T	3	195782037	195782037	C	T	TFRC	c.1813G>A	NM_003234.4	NP_003225.2:p.(Val605Ile)	NC_000003.11:g.195782037C>T	(Likely) benign	1 lab	c27cf8263f
12:110032923 MVK G>A	12	110032923	110032923	G	A	MVK	c.976G>A	NM_000431.2	NP_000422.1:p.(Gly326Arg)	NC_000012.11:g.110032923G>A	(Likely) pathogenic	1 lab	c27dacbfb3
1:236969443 MTR G>C	1	236969443	236969443	G	C	MTR	c.250-1G>C	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.236969443G>C	(Likely) pathogenic	1 lab	c281746fa8
3:57399498 DNAH12 G>A	3	57399498	57399498	G	A	DNAH12	c.5995C>T	NM_001366028.2	NP_001352957.1:p.(Arg1999Ter)	NC_000003.11:g.57399498G>A	VUS	1 lab	d73bcf9965
10:97174306 SORBS1 G>A	10	97174306	97174306	G	A	SORBS1				NC_000010.10:g.97174306G>A	(Likely) benign	1 lab	c2857518f9
2:227872869 COL4A4 C>T	2	227872869	227872869	C	T	COL4A4	c.4674G>A	NM_000092.4	NP_000083.3:p.(Ala1558=)	NC_000002.11:g.227872869C>T	(Likely) benign	1 lab	c2859f17af
6:31919784 CFB G>A	6	31919784	31919784	G	A	CFB	c.2272G>A	NM_001710.5	NP_001701.2:p.(Asp758Asn)	NC_000006.11:g.31919784G>A	(Likely) benign	1 lab	c28aea7889
17:4076716 ANKFY1 C>T	17	4076716	4076716	C	T	ANKFY1	c.3073G>A	NM_001257999.2	NP_001244928.1:p.(Gly1025Ser)	NC_000017.10:g.4076716C>T	(Likely) benign	1 lab	c28cce591f
14:23884429 MYH7 G>A	14	23884429	23884429	G	A	MYH7	c.5334C>T	NM_000257.2	NP_000248.2:p.(His1778=)	NC_000014.8:g.23884429G>A	VUS	1 lab	c28dad2e7c
16:16248816 ABCC6 C>T	16	16248816	16248816	C	T	ABCC6	c.3955G>A	NM_001171.6	NP_001162.5:p.(Ala1319Thr)	NC_000016.9:g.16248816C>T	VUS	1 lab	d73d0fd800
15:42126956 JMJD7-PLA2G4B C>G	15	42126956	42126956	C	G	JMJD7-PLA2G4B	c.83C>G	NM_005090.3	NP_005081.1:p.(Ala28Gly)	NC_000015.9:g.42126956C>G	(Likely) benign	1 lab	c292f6655e
2:179437892 TTN T>C	2	179437892	179437892	T	C	TTN	c.46147A>G	NM_133432.3	NP_597676.3:p.(Lys15383Glu)	NC_000002.11:g.179437892T>C	(Likely) benign	1 lab	c2a157a96f
2:44547503 SLC3A1 G>A	2	44547503	44547503	G	A	SLC3A1	c.1783G>A	NM_000341.4	NP_000332.2:p.(Val595Met)	NC_000002.11:g.44547503G>A	(Likely) benign	1 lab	c2a72d0103
1:33476292 AK2 A>G	1	33476292	33476292	A	G	AK2				NC_000001.10:g.33476292A>G	(Likely) benign	1 lab	c2a9f60da2
7:77807352 MAGI2 G>A	7	77807352	77807352	G	A	MAGI2	c.2379C>T	NM_012301.4	NP_036433.2:p.(Leu793=)	NC_000007.13:g.77807352G>A	(Likely) benign	1 lab	c2aabe52b9
19:35523570 SCN1B G>A	19	35523570	35523570	G	A	SCN1B	c.179G>A	NM_199037.5	NP_950238.1:p.(Arg60His)	NC_000019.9:g.35523570G>A	(Likely) pathogenic	1 lab	c2abc8a9d4
3:49166222 LAMB2 G>C	3	49166222	49166222	G	C	LAMB2	c.1762C>G	NM_002292.4	NP_002283.3:p.(Pro588Ala)	NC_000003.11:g.49166222G>C	(Likely) benign	1 lab	c2ad59d43f
2:228125778 COL4A3 T>C	2	228125778	228125778	T	C	COL4A3	c.1115-20T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228125778T>C	(Likely) benign	1 lab	c2c33575b1
17:73227421 NUP85 G>A	17	73227421	73227421	G	A	NUP85	c.1095-14G>A	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73227421G>A	(Likely) benign	1 lab	c2c34d0b24
1:158656347 SPTA1 C>CAGAGAGAG	1	158656347	158656366	C	CAGAGAGAG	SPTA1	c.-48_-41dup	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656359_158656366dup	(Likely) benign	1 lab	c2c354a9da
6:118869423 CEP85L A>C	6	118869423	118869423	A	C	CEP85L	c.1020+17269T>G	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118869423A>C	(Likely) benign	1 lab	c2caa454e3
3:4732893 ITPR1 C>T	3	4732893	4732893	C	T	ITPR1	c.3849C>T	NM_001168272.1	NP_001161744.1:p.(Asn1283=)	NC_000003.11:g.4732893C>T	(Likely) benign	1 lab	c2ceb32cae
6:85473772 TBX18 G>A	6	85473772	85473772	G	A	TBX18	c.128C>T	NM_001080508.3	NP_001073977.1:p.(Ala43Val)	NC_000006.11:g.85473772G>A	(Likely) benign	1 lab	c2d0105043
5:35857172 IL7R T>G	5	35857172	35857172	T	G	IL7R				NC_000005.9:g.35857172T>G	(Likely) benign	1 lab	c3a12102ac
7:151800222 GALNT11 G>C	7	151800222	151800222	G	C	GALNT11	c.445G>C	NM_022087.4	NP_071370.2:p.(Asp149His)	NC_000007.13:g.151800222G>C	VUS	1 lab	d73ebc769e
18:48422179 ME2 G>T	18	48422179	48422179	G	T	ME2	c.-12G>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48422179G>T	(Likely) benign	1 lab	c2d61d1532
2:179431241 TTN G>A	2	179431241	179431241	G	A	TTN	c.52798C>T	NM_133432.3	NP_597676.3:p.(Gln17600Ter)	NC_000002.11:g.179431241G>A	(Likely) pathogenic	1 lab	c2d98decaf
11:20623066 SLC6A5 C>G	11	20623066	20623066	C	G	SLC6A5	c.395C>G	NM_004211.5	NP_004202.4:p.(Ala132Gly)	NC_000011.9:g.20623066C>G	(Likely) benign	1 lab	c2dc574aa4
1:146758054 CHD1L G>A	1	146758054	146758054	G	A	CHD1L	c.2098G>A	NM_004284.6	NP_004275.4:p.(Gly700Arg)	NC_000001.10:g.146758054G>A	(Likely) benign	1 lab	c2deaf4713
8:68418951 CPA6 G>T	8	68418951	68418951	G	T	CPA6	c.636+71C>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68418951G>T	(Likely) benign	1 lab	c2dfac80ec
8:41526116 ANK1 G>A	8	41526116	41526116	G	A	ANK1	c.5097-34C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41526116G>A	(Likely) benign	1 lab	c2e07e0a8f
14:58924553 KIAA0586 C>T	14	58924553	58924553	C	T	KIAA0586	c.1598C>T	NM_001244189.2	NP_001231118.1:p.(Thr533Ile)	NC_000014.8:g.58924553C>T	(Likely) benign	1 lab	c2e821932e
10:78850320 KCNMA1 C>G	10	78850320	78850320	C	G	KCNMA1	c.1224-52G>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78850320C>G	(Likely) benign	1 lab	c2f194d6bf
11:118220457 CD3G G>C	11	118220457	118220457	G	C	CD3G	c.80-1G>C	NM_000073.2	NP_000064.1:p.?	NC_000011.9:g.118220457G>C	(Likely) pathogenic	1 lab	c2fb5f9b61
2:109398888 RANBP2 A>AT	2	109398888	109398894	A	AT	RANBP2	c.9034+37dup	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109398894dup	(Likely) benign	1 lab	c2fc14cd48
8:145641410 SLC39A4 C>T	8	145641410	145641410	C	T	SLC39A4	c.183G>A	NM_017767.3	NP_060237.3:p.(Pro61=)	NC_000008.10:g.145641410C>T	(Likely) benign	1 lab	c2fddc5e82
2:216226368 FN1 G>A	2	216226368	216226368	G	A	FN1	c.7363-19C>T	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216226368G>A	(Likely) benign	1 lab	c300428d5d
16:1260663 CACNA1H C>T	16	1260663	1260663	C	T	CACNA1H	c.4038+12C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260663C>T	(Likely) benign	1 lab	c300e73e9f
3:183898046 AP2M1 G>A	3	183898046	183898046	G	A	AP2M1	c.423+7G>A	NM_004068.4	NP_004059.2:p.?	NC_000003.11:g.183898046G>A	(Likely) benign	1 lab	c304f7903d
3:63965867 ATXN7 T>C	3	63965867	63965867	T	C	ATXN7	c.752+24T>C	NM_000333.3	NP_000324.1:p.?	NC_000003.11:g.63965867T>C	(Likely) benign	1 lab	c3061c88ea
X:154090007 F8 C>T	X	154090007	154090007	C	T	F8	c.6709G>A	NM_000132.3	NP_000123.1:p.(Ala2237Thr)	NC_000023.10:g.154090007C>T	(Likely) pathogenic	1 lab	c308eb8e9c
10:102510664 PAX2 G>A	10	102510664	102510664	G	A	PAX2	c.410+16G>A	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102510664G>A	(Likely) benign	1 lab	c30d27f16c
5:137206460 MYOT T>A	5	137206460	137206460	T	A	MYOT	c.120T>A	NM_006790.2	NP_006781.1:p.(Ile40=)	NC_000005.9:g.137206460T>A	(Likely) benign	1 lab	c30ebd4e6d
4:154214250 TRIM2 C>G	4	154214250	154214250	C	G	TRIM2	c.489C>G	NM_001130067.2	NP_001123539.1:p.(Ala163=)	NC_000004.11:g.154214250C>G	(Likely) benign	1 lab	c3114294ed
3:189604160 TP63 T>C	3	189604160	189604160	T	C	TP63	c.1350-23T>C	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189604160T>C	(Likely) benign	1 lab	c312ce0a2f
18:48443987 ME2 A>AT	18	48443987	48443996	A	AT	ME2	c.630+118dup	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48443996dup	(Likely) benign	1 lab	c315c3c7a6
6:31901367 C2 C>A	6	31901367	31901367	C	A	C2	c.443-20C>A	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31901367C>A	(Likely) benign	1 lab	c3196a93eb
5:89931262 ADGRV1 T>G	5	89931262	89931262	T	G	ADGRV1	c.2016+155T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89931262T>G	(Likely) benign	1 lab	c31b22a66c
2:32475363 NLRC4 C>T	2	32475363	32475363	C	T	NLRC4	c.1570G>A	NM_021209.4	NP_067032.3:p.(Ala524Thr)	NC_000002.11:g.32475363C>T	(Likely) benign	1 lab	c31b383af5
8:41562081 ANK1 C>T	8	41562081	41562081	C	T	ANK1	c.2197-91G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41562081C>T	(Likely) benign	1 lab	c3206f2c23
2:189860860 COL3A1 G>A	2	189860860	189860860	G	A	COL3A1	c.1618G>A	NM_000090.3	NP_000081.1:p.(Gly540Arg)	NC_000002.11:g.189860860G>A	(Likely) pathogenic	1 lab	c322e79e8e
1:196646722 CFH T>C	1	196646722	196646722	T	C	CFH	c.544T>C	NM_000186.3	NP_000177.2:p.(Tyr182His)	NC_000001.10:g.196646722T>C	VUS	1 lab	c324774879
2:216240296 FN1 C>T	2	216240296	216240296	C	T	FN1	c.5977+56G>A	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216240296C>T	(Likely) benign	1 lab	c325b88efe
8:68396032 CPA6 G>A	8	68396032	68396032	G	A	CPA6	c.809C>T	NM_020361.5	NP_065094.3:p.(Ala270Val)	NC_000008.10:g.68396032G>A	(Likely) pathogenic	1 lab	c325cfe47d
1:38079825 RSPO1 C>T	1	38079825	38079825	C	T	RSPO1	c.436+31G>A	NM_001038633.4	NP_001033722.1:p.?	NC_000001.10:g.38079825C>T	(Likely) benign	1 lab	c32ae981b3
12:53167416 KRT76 C>A	12	53167416	53167416	C	A	KRT76	c.826G>T	NM_015848.4	NP_056932.2:p.(Glu276Ter)	NC_000012.11:g.53167416C>A	(Likely) pathogenic	1 lab	c32c435247
19:39219050 ACTN4 G>GCTCCTCCTCCTC	19	39219050	39219090	G	GCTCCTCCTCCTC	ACTN4	c.2418+413_2418+424dup	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39219079_39219090dup	(Likely) benign	1 lab	c33009fbcf
1:172634784 FASLG G>C	1	172634784	172634784	G	C	FASLG	c.474G>C	NM_000639.1	NP_000630.1:p.(Met158Ile)	NC_000001.10:g.172634784G>C	(Likely) benign	1 lab	c3303a8c10
9:129453340 LMX1B C>T	9	129453340	129453340	C	T	LMX1B	c.552C>T	NM_002316.4	NP_002307.2:p.(Ser184=)	NC_000009.11:g.129453340C>T	(Likely) benign	1 lab	c3339f2468
22:32150821 DEPDC5 A>T	22	32150821	32150821	A	T	DEPDC5	c.-60-27A>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32150821A>T	(Likely) benign	1 lab	c33637aeec
20:62319389 RTEL1 C>T	20	62319389	62319389	C	T	RTEL1	c.912C>T	NM_001283010.1	NP_001269939.1:p.(Ser304=)	NC_000020.10:g.62319389C>T	(Likely) benign	1 lab	c33725c572
6:32822086 PSMB9 G>C	6	32822086	32822086	G	C	PSMB9	c.60+20G>C	NM_002800.5	NP_002791.1:p.?	NC_000006.11:g.32822086G>C	(Likely) benign	1 lab	c337b783f5
2:152420428 NEB G>A	2	152420428	152420428	G	A	NEB	c.18488C>T	NM_001271208.1	NP_001258137.1:p.(Ala6163Val)	NC_000002.11:g.152420428G>A	(Likely) benign	1 lab	c3393e69c4
4:155507801 FGA C>T	4	155507801	155507801	C	T	FGA	c.780G>A	NM_000508.3	NP_000499.1:p.(Glu260=)	NC_000004.11:g.155507801C>T	(Likely) benign	1 lab	c33b17fbdd
X:53578223 HUWE1 A>G	X	53578223	53578223	A	G	HUWE1	c.9096+4T>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53578223A>G	(Likely) benign	1 lab	c3415ed7ad
10:14977475 DCLRE1C G>A	10	14977475	14977475	G	A	DCLRE1C	c.451C>T	NM_001033855.1	NP_001029027.1:p.(His151Tyr)	NC_000010.10:g.14977475G>A	(Likely) benign	1 lab	c3445c801e
19:4818045 TICAM1 G>A	19	4818045	4818045	G	A	TICAM1	c.345C>T	NM_182919.3	NP_891549.1:p.(Asp115=)	NC_000019.9:g.4818045G>A	(Likely) benign	1 lab	c348d90307
15:59497582 MYO1E T>C	15	59497582	59497582	T	C	MYO1E	c.1616+17A>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59497582T>C	(Likely) benign	1 lab	c34ab62a64
14:65268605 SPTB A>G	14	65268605	65268605	A	G	SPTB	c.567-53T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268605A>G	(Likely) benign	1 lab	c34ba64d4a
6:51824833 PKHD1 C>T	6	51824833	51824833	C	T	PKHD1	c.5752-9G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51824833C>T	(Likely) benign	1 lab	c34c15cd36
4:123374846 IL2 A>G	4	123374846	123374846	A	G	IL2	c.351+19T>C	NM_000586.3	NP_000577.2:p.?	NC_000004.11:g.123374846A>G	(Likely) benign	1 lab	c34d328c4f
11:67763068 UNC93B1 A>C	11	67763068	67763068	A	C	UNC93B1	c.1363+14T>G	NM_030930.2	NP_112192.2:p.?	NC_000011.9:g.67763068A>C	(Likely) benign	1 lab	c350c2a3b8
13:39263714 FREM2 T>G	13	39263714	39263714	T	G	FREM2	c.2233C>G	NM_207361.6	NP_997244.4:p.(Pro745Ala)	NC_000013.10:g.39263714T>G	VUS	1 lab	c356c7740e
9:130591966 ENG G>T	9	130591966	130591966	G	T	ENG	c.360C>A	NM_000118.3	NP_000109.1:p.(Tyr120Ter)	NC_000009.11:g.130591966G>T	(Likely) pathogenic	1 lab	c35b79737c
14:23243344 SLC7A7 TAACTG>T	14	23243344	23243349	TAACTG	T	SLC7A7	c.1246-24_1246-20del	NM_003982.4	NP_003973.3:p.?	NC_000014.8:g.23243345_23243349del	(Likely) benign	1 lab	c364fc2859
19:4817440 TICAM1 G>A	19	4817440	4817440	G	A	TICAM1	c.950C>T	NM_182919.3	NP_891549.1:p.(Pro317Leu)	NC_000019.9:g.4817440G>A	(Likely) benign	1 lab	c3654cfcb7
2:202073781 CASP10 G>T	2	202073781	202073781	G	T	CASP10	c.923-12G>T	NM_032977.3	NP_116759.2:p.?	NC_000002.11:g.202073781G>T	(Likely) benign	1 lab	c369b124e2
20:398472 RBCK1 C>T	20	398472	398472	C	T	RBCK1	c.358C>T	NM_031229.4	NP_112506.2:p.(Arg120Trp)	NC_000020.10:g.398472C>T	(Likely) benign	1 lab	c36b12cce9
19:1399239 GAMT G>A	19	1399239	1399239	G	A	GAMT	c.392-45C>T	NM_000156.6	NP_000147.1:p.?	NC_000019.9:g.1399239G>A	(Likely) benign	1 lab	c36b2f1404
14:23854228 MYH6 T>C	14	23854228	23854228	T	C	MYH6	c.5186A>G	NM_002471.3	NP_002462.2:p.(Lys1729Arg)	NC_000014.8:g.23854228T>C	VUS	1 lab	c36b82836a
19:36335151 NPHS1 G>A	19	36335151	36335151	G	A	NPHS1	c.2072-6C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36335151G>A	(Likely) benign	1 lab	c37170a596
22:19748600 TBX1 C>T	22	19748600	19748600	C	T	TBX1	c.207C>T	NM_080647.1	NP_542378.1:p.(Ala69=)	NC_000022.10:g.19748600C>T	(Likely) benign	1 lab	c3726b0ae8
9:14770667 FREM1 G>A	9	14770667	14770667	G	A	FREM1	c.4995C>T	NM_144966.5	NP_659403.4:p.(Asp1665=)	NC_000009.11:g.14770667G>A	(Likely) benign	1 lab	c374a5011a
1:32667609 CCDC28B C>T	1	32667609	32667609	C	T	CCDC28B	c.73C>T	NM_024296.4	NP_077272.2:p.(Arg25Trp)	NC_000001.10:g.32667609C>T	(Likely) benign	1 lab	c377800b76
2:44547574 PREPL G>A	2	44547574	44547574	G	A	PREPL	c.*921C>T	NM_006036.4	NP_006027.2:p.?	NC_000002.11:g.44547574G>A	(Likely) benign	1 lab	c378e2d83d
8:100830031 VPS13B G>A	8	100830031	100830031	G	A	VPS13B	c.8436G>A	NM_017890.4	NP_060360.3:p.(Gln2812=)	NC_000008.10:g.100830031G>A	(Likely) pathogenic	1 lab	c37b181b97
20:53171509 DOK5 C>G	20	53171509	53171509	C	G	DOK5	c.104C>G	NM_018431.5	NP_060901.2:p.(Ser35Ter)	NC_000020.10:g.53171509C>G	VUS	1 lab	d7455196e9
9:14770658 FREM1 G>T	9	14770658	14770658	G	T	FREM1	c.5004C>A	NM_144966.5	NP_659403.4:p.(Ile1668=)	NC_000009.11:g.14770658G>T	(Likely) benign	1 lab	c37cb03df1
5:179201412 MAML1 C>A	5	179201412	179201412	C	A	MAML1	c.2585C>A	NM_014757.5	NP_055572.1:p.(Ala862Glu)	NC_000005.9:g.179201412C>A	VUS	1 lab	d7480b63f9
22:32232909 DEPDC5 A>T	22	32232909	32232909	A	T	DEPDC5	c.2171-49A>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32232909A>T	(Likely) benign	1 lab	c383387754
19:54318241 NLRP12 A>G	19	54318241	54318241	A	G	NLRP12	c.291T>C	NM_144687.4	NP_653288.1:p.(Asp97=)	NC_000019.9:g.54318241A>G	(Likely) benign	1 lab	c38a320f28
12:49434493 KMT2D G>A	12	49434493	49434493	G	A	KMT2D	c.7060C>T	NM_003482.3	NP_003473.3:p.(Pro2354Ser)	NC_000012.11:g.49434493G>A	(Likely) benign	1 lab	c38a7745f3
7:117175419 CFTR C>T	7	117175419	117175419	C	T	CFTR	c.697C>T	NM_000492.4	NP_000483.3:p.(Leu233Phe)	NC_000007.13:g.117175419C>T	VUS	1 lab	d749347d58
X:15349775 PIGA G>A	X	15349775	15349775	G	A	PIGA	c.278C>T	NM_002641.3	NP_002632.1:p.(Pro93Leu)	NC_000023.10:g.15349775G>A	(Likely) pathogenic	1 lab	c3932ba577
1:237693662 RYR2 C>T	1	237693662	237693662	C	T	RYR2	c.2823-65C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237693662C>T	(Likely) benign	1 lab	c39ba7e87e
11:88027420 CTSC G>A	11	88027420	88027420	G	A	CTSC	c.1146C>T	NM_001814.4	NP_001805.3:p.(His382=)	NC_000011.9:g.88027420G>A	(Likely) benign	1 lab	c39be96e6e
4:88928963 PKD2 GGGCCGGCTGAT>G	4	88928963	88928977	GGGCCGGCTGAT	G	PKD2	c.82_92del	NM_000297.4	NP_000288.1:p.(Arg28TrpfsTer60)	NC_000004.11:g.88928967_88928977del	(Likely) pathogenic	1 lab	c39e8e3a53
1:235598887 TBCE G>A	1	235598887	235598887	G	A	TBCE	c.738-173G>A	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235598887G>A	(Likely) benign	1 lab	c39ed74a91
2:47601109 EPCAM G>A	2	47601109	47601109	G	A	EPCAM	c.347G>A	NM_002354.2	NP_002345.2:p.(Cys116Tyr)	NC_000002.11:g.47601109G>A	(Likely) pathogenic	1 lab	c39faf440c
16:1511589 CLCN7 CAGA>C	16	1511589	1511594	CAGA	C	CLCN7	c.285+12_285+14del	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1511592_1511594del	(Likely) benign	1 lab	c3a7c036c6
3:49456487 AMT C>T	3	49456487	49456487	C	T	AMT	c.794G>A	NM_000481.3	NP_000472.2:p.(Arg265His)	NC_000003.11:g.49456487C>T	(Likely) pathogenic	1 lab	c3addf71cd
4:77089538 SCARB2 G>A	4	77089538	77089538	G	A	SCARB2	c.1187+18C>T	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77089538G>A	(Likely) benign	1 lab	c3b5166725
2:228147186 COL4A3 G>A	2	228147186	228147186	G	A	COL4A3	c.2594G>A	NM_000091.4	NP_000082.2:p.(Gly865Asp)	NC_000002.11:g.228147186G>A	(Likely) pathogenic	1 lab	c3be42a324
9:138662106 KCNT1 C>T	9	138662106	138662106	C	T	KCNT1	c.1620-38C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662106C>T	(Likely) benign	1 lab	c3c0041c79
X:48369873 PORCN G>A	X	48369873	48369873	G	A	PORCN	c.327G>A	NM_203475.3	NP_982301.1:p.(Met109Ile)	NC_000023.10:g.48369873G>A	VUS	1 lab	d74e793e1b
14:64692056 SYNE2 C>T	14	64692056	64692056	C	T	SYNE2	c.20536C>T	NM_182914.3	NP_878918.2:p.(Pro6846Ser)	NC_000014.8:g.64692056C>T	(Likely) benign	1 lab	d7540a5e43
1:237862350 RYR2 A>T	1	237862350	237862350	A	T	RYR2	c.9128+25A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237862350A>T	(Likely) benign	1 lab	c3c3c797b4
12:6443031 TNFRSF1A C>T	12	6443031	6443031	C	T	TNFRSF1A	c.194G>A	NM_001065.3	NP_001056.1:p.(Gly65Glu)	NC_000012.11:g.6443031C>T	(Likely) pathogenic	1 lab	c3c44fbde0
15:89398330 ACAN G>A	15	89398330	89398330	G	A	ACAN	c.2514G>A	NM_013227.4	NP_037359.3:p.(Ser838=)	NC_000015.9:g.89398330G>A	(Likely) benign	1 lab	d75840f0fb
17:78181988 CARD14 G>A	17	78181988	78181988	G	A	CARD14	c.2859G>A	NM_024110.4	NP_077015.2:p.(Ala953=)	NC_000017.10:g.78181988G>A	(Likely) benign	1 lab	c3ce78edff
21:46321388 ITGB2 G>A	21	46321388	46321388	G	A	ITGB2	c.741+19C>T	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46321388G>A	(Likely) benign	1 lab	c3d6b32aca
17:39925763 JUP C>T	17	39925763	39925763	C	T	JUP	c.375G>A	NM_001352773.1	NP_001339702.1:p.(Ser125=)	NC_000017.10:g.39925763C>T	(Likely) benign	1 lab	c3d6f7b149
13:36158025 NBEA C>T	13	36158025	36158025	C	T	NBEA	c.7036-10C>T	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.36158025C>T	(Likely) benign	1 lab	c3d8f5b111
10:97453703 TCTN3 A>C	10	97453703	97453703	A	C	TCTN3				NC_000010.10:g.97453703A>C	(Likely) benign	1 lab	c3d979cc66
1:46658095 POMGNT1 G>A	1	46658095	46658095	G	A	POMGNT1	c.1298C>T	NM_017739.3	NP_060209.3:p.(Thr433Met)	NC_000001.10:g.46658095G>A	(Likely) benign	1 lab	c3db9ab18c
2:167992482 XIRP2 G>A	2	167992482	167992482	G	A	XIRP2	c.472G>A	NM_152381.6	NP_689594.4:p.(Glu158Lys)	NC_000002.11:g.167992482G>A	(Likely) benign	1 lab	c3dbfbe69d
2:179449468 TTN C>T	2	179449468	179449468	C	T	TTN	c.38080G>A	NM_133432.3	NP_597676.3:p.(Val12694Ile)	NC_000002.11:g.179449468C>T	VUS	1 lab	c3dcb6c311
16:3299484 MEFV C>T	16	3299484	3299484	C	T	MEFV	c.1207G>A	NM_000243.2	NP_000234.1:p.(Glu403Lys)	NC_000016.9:g.3299484C>T	VUS	1 lab	c5d6f30a65
2:228148385 COL4A3 A>G	2	228148385	228148385	A	G	COL4A3	c.2657-98A>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228148385A>G	(Likely) benign	1 lab	c3e27eaa78
1:228346733 GJC2 A>G	1	228346733	228346733	A	G	GJC2	c.1274A>G	NM_020435.4	NP_065168.2:p.(Lys425Arg)	NC_000001.10:g.228346733A>G	(Likely) benign	1 lab	c3eb98c942
11:6637499 TPP1 A>T	11	6637499	6637499	A	T	TPP1	c.1075+47T>A	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6637499A>T	(Likely) benign	1 lab	c3ef1af458
12:110034261 MVK AG>A	12	110034261	110034262	AG	A	MVK	c.1071del	NM_000431.4	NP_000422.1:p.(Lys357AsnfsTer4)	NC_000012.11:g.110034262del	(Likely) pathogenic	1 lab	c3f3efbe56
12:4488367 FGF23 GCA>G	12	4488367	4488385	GCA	G	FGF23	c.211+169_211+170del	NM_020638.3	NP_065689.1:p.?	NC_000012.11:g.4488384_4488385del	(Likely) benign	1 lab	c3f4afe94c
15:93448173 CHD2 G>C	15	93448173	93448173	G	C	CHD2	c.62+3644G>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93448173G>C	(Likely) benign	1 lab	c3f4fde3d5
1:158655162 SPTA1 C>A	1	158655162	158655162	C	A	SPTA1	c.25-25G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158655162C>A	(Likely) benign	1 lab	c4019220ac
12:110019212 MVK C>T	12	110019212	110019212	C	T	MVK	c.384C>T	NM_000431.2	NP_000422.1:p.(Ser128=)	NC_000012.11:g.110019212C>T	(Likely) benign	1 lab	c4020f9077
7:158664120 DYNC2I1 G>A	7	158664120	158664120	G	A	DYNC2I1	c.357G>A	NM_018051.5	NP_060521.4:p.(Lys119=)	NC_000007.13:g.158664120G>A	(Likely) benign	1 lab	c40622b190
12:66786341 GRIP1 G>A	12	66786341	66786341	G	A	GRIP1	c.2114-59C>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66786341G>A	(Likely) benign	1 lab	c406636bfd
7:128470944 FLNC A>G	7	128470944	128470944	A	G	FLNC	c.253A>G	NM_001458.4	NP_001449.3:p.(Lys85Glu)	NC_000007.13:g.128470944A>G	VUS	1 lab	c406a253d3
1:43396501 SLC2A1 G>A	1	43396501	43396501	G	A	SLC2A1	c.312C>T	NM_006516.3	NP_006507.2:p.(Phe104=)	NC_000001.10:g.43396501G>A	(Likely) benign	1 lab	c40a77f4ce
10:88469706 LDB3 C>A	10	88469706	88469706	C	A	LDB3	c.1145C>A	NM_001171610.2	NP_001165081.1:p.(Ala382Glu)	NC_000010.10:g.88469706C>A	(Likely) benign	1 lab	c40ce0332b
X:47479155 SYN1 G>C	X	47479155	47479155	G	C	SYN1	c.-28C>G	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47479155G>C	(Likely) benign	1 lab	c410e42b3d
15:48518752 SLC12A1 C>T	15	48518752	48518752	C	T	SLC12A1	c.708C>T	NM_000338.3	NP_000329.2:p.(Asn236=)	NC_000015.9:g.48518752C>T	(Likely) benign	1 lab	c41433d749
2:202141549 CASP8 G>A	2	202141549	202141549	G	A	CASP8	c.838-1G>A	NM_001080125.2	NP_001073594.1:p.?	NC_000002.11:g.202141549G>A	(Likely) pathogenic	1 lab	c41dbc6918
9:127262664 NR5A1 G>A	9	127262664	127262664	G	A	NR5A1	c.575C>T	NM_004959.5	NP_004950.2:p.(Ala192Val)	NC_000009.11:g.127262664G>A	VUS	1 lab	c41e1b4248
X:153589860 FLNA A>C	X	153589860	153589860	A	C	FLNA	c.3023T>G	NM_001110556.2	NP_001104026.1:p.(Ile1008Ser)	NC_000023.10:g.153589860A>C	VUS	1 lab	c41e284a0e
1:237660065 RYR2 C>T	1	237660065	237660065	C	T	RYR2	c.2203+13C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237660065C>T	(Likely) benign	1 lab	c4223e2f89
10:68138968 CTNNA3 G>A	10	68138968	68138968	G	A	CTNNA3	c.1674C>T	NM_013266.4	NP_037398.2:p.(Tyr558=)	NC_000010.10:g.68138968G>A	(Likely) benign	1 lab	c424fc45a4
9:138647037 KCNT1 C>G	9	138647037	138647037	C	G	KCNT1	c.540+22C>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138647037C>G	(Likely) benign	1 lab	c42db24159
X:49851227 CLCN5 C>T	X	49851227	49851227	C	T	CLCN5	c.1047C>T	NM_000084.5	NP_000075.1:p.(Thr349=)	NC_000023.10:g.49851227C>T	(Likely) benign	1 lab	c42db64a2a
12:56748639 STAT2 G>A	12	56748639	56748639	G	A	STAT2	c.556C>T	NM_005419.4	NP_005410.1:p.(Pro186Ser)	NC_000012.11:g.56748639G>A	(Likely) benign	1 lab	c4310be9b0
3:12632469 RAF1 T>C	3	12632469	12632469	T	C	RAF1	c.1198A>G	NM_002880.3	NP_002871.1:p.(Thr400Ala)	NC_000003.11:g.12632469T>C	VUS	1 lab	c4333966c8
9:712830 KANK1 G>A	9	712830	712830	G	A	KANK1	c.2064G>A	NM_001256877.3	NP_001243806.1:p.(Thr688=)	NC_000009.11:g.712830G>A	(Likely) benign	1 lab	d7594ee319
4:88995987 PKD2 T>G	4	88995987	88995987	T	G	PKD2	c.2546T>G	NM_000297.4	NP_000288.1:p.(Met849Arg)	NC_000004.11:g.88995987T>G	VUS	1 lab	c434b27e66
4:178357514 AGA T>TA	4	178357514	178357526	T	TA	AGA	c.623-10dup	NM_000027.4	NP_000018.2:p.?	NC_000004.11:g.178357526dup	(Likely) benign	1 lab	c43c05916e
16:3293541 MEFV A>G	16	3293541	3293541	A	G	MEFV	c.1946T>C	NM_000243.2	NP_000234.1:p.(Leu649Pro)	NC_000016.9:g.3293541A>G	VUS	1 lab	c43e52544c
2:179605305 TTN C>T	2	179605305	179605305	C	T	TTN	c.12655G>A	NM_001267550.1	NP_001254479.1:p.(Glu4219Lys)	NC_000002.11:g.179605305C>T	VUS	1 lab	c4409fa118
10:104159892 NFKB2 T>C	10	104159892	104159892	T	C	NFKB2	c.1525T>C	NM_001288724.1	NP_001275653.1:p.(Tyr509His)	NC_000010.10:g.104159892T>C	(Likely) benign	1 lab	c4419635bb
1:155261553 PKLR C>A	1	155261553	155261553	C	A	PKLR	c.1612G>T	NM_000298.6	NP_000289.1:p.(Glu538Ter)	NC_000001.10:g.155261553C>A	(Likely) pathogenic	1 lab	c443682464
22:36653385 APOL1 G>T	22	36653385	36653385	G	T	APOL1	c.119G>T	NM_003661.4	NP_003652.2:p.(Ser40Ile)	NC_000022.10:g.36653385G>T	(Likely) benign	1 lab	c444df202e
X:153284412 IRAK1 C>A	X	153284412	153284412	C	A	IRAK1	c.540+14G>T	NM_001569.4	NP_001560.2:p.?	NC_000023.10:g.153284412C>A	(Likely) benign	1 lab	c445753747
16:23646467 PALB2 C>T	16	23646467	23646467	C	T	PALB2	c.1400G>A	NM_024675.4	NP_078951.2:p.(Gly467Asp)	NC_000016.9:g.23646467C>T	VUS	1 lab	d75ff9115f
7:143042411 CLCN1 C>G	7	143042411	143042411	C	G	CLCN1	c.1931-203C>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143042411C>G	(Likely) benign	1 lab	c44b7c2a38
5:125912832 ALDH7A1 G>A	5	125912832	125912832	G	A	ALDH7A1	c.589C>T	NM_001182.5	NP_001173.2:p.(Pro197Ser)	NC_000005.9:g.125912832G>A	(Likely) pathogenic	1 lab	c44da718c9
3:49159687 LAMB2 G>A	3	49159687	49159687	G	A	LAMB2	c.4690C>T	NM_002292.4	NP_002283.3:p.(Arg1564Trp)	NC_000003.11:g.49159687G>A	VUS	1 lab	c44ed2f746
8:11407734 BLK C>T	8	11407734	11407734	C	T	BLK	c.435C>T	NM_001715.3	NP_001706.2:p.(Ala145=)	NC_000008.10:g.11407734C>T	(Likely) benign	1 lab	c4531de238
20:33005060 ITCH G>A	20	33005060	33005060	G	A	ITCH	c.598+15G>A	NM_001257137.3	NP_001244066.1:p.?	NC_000020.10:g.33005060G>A	(Likely) benign	1 lab	c45a8e7943
6:137540417 IFNGR1 C>T	6	137540417	137540417	C	T	IFNGR1	c.48G>A	NM_000416.2	NP_000407.1:p.(Arg16=)	NC_000006.11:g.137540417C>T	(Likely) benign	1 lab	c45b5f7837
1:205764467 SLC41A1 G>A	1	205764467	205764467	G	A	SLC41A1	c.1207+5C>T	NM_173854.6	NP_776253.3:p.?	NC_000001.10:g.205764467G>A	(Likely) benign	1 lab	c45e31a985
19:50364549 PNKP C>T	19	50364549	50364549	C	T	PNKP	c.1522G>A	NM_007254.4	NP_009185.2:p.(Glu508Lys)	NC_000019.9:g.50364549C>T	(Likely) benign	1 lab	c46233977d
1:236917336 ACTN2 T>C	1	236917336	236917336	T	C	ACTN2	c.1929T>C	NM_001103.3	NP_001094.1:p.(Ala643=)	NC_000001.10:g.236917336T>C	(Likely) benign	1 lab	c46d0a4498
19:861916 CFD G>A	19	861916	861916	G	A	CFD	c.575G>A	NM_001928.2	NP_001919.2:p.(Arg192His)	NC_000019.9:g.861916G>A	(Likely) benign	1 lab	c4796c02c0
9:98638308 ERCC6L2 T>A	9	98638308	98638308	T	A	ERCC6L2				NC_000009.11:g.98638308T>A	(Likely) benign	1 lab	c4797d28ab
17:10546149 MYH3 G>A	17	10546149	10546149	G	A	MYH3	c.1575C>T	NM_002470.4	NP_002461.2:p.(Ile525=)	NC_000017.10:g.10546149G>A	(Likely) benign	1 lab	c47d8d0884
X:37670030 CYBB T>C	X	37670030	37670030	T	C	CYBB	c.1587-14T>C	NM_000397.3	NP_000388.2:p.?	NC_000023.10:g.37670030T>C	(Likely) benign	1 lab	c4834d4b0a
19:1401422 GAMT G>A	19	1401422	1401422	G	A	GAMT	c.54C>T	NM_000156.6	NP_000147.1:p.(Pro18=)	NC_000019.9:g.1401422G>A	(Likely) benign	1 lab	c48579eca7
4:79207575 FRAS1 C>T	4	79207575	79207575	C	T	FRAS1	c.1416C>T	NM_025074.7	NP_079350.5:p.(Cys472=)	NC_000004.11:g.79207575C>T	(Likely) benign	1 lab	c488f7e196
2:166172133 SCN2A A>G	2	166172133	166172133	A	G	SCN2A	c.1536A>G	NM_021007.3	NP_066287.2:p.(Glu512=)	NC_000002.11:g.166172133A>G	(Likely) benign	1 lab	c48d510a6d
6:20487048 E2F3 G>A	6	20487048	20487048	G	A	E2F3	c.999+14G>A	NM_001949.5	NP_001940.1:p.?	NC_000006.11:g.20487048G>A	(Likely) benign	1 lab	c492ceb676
16:50750561 NOD2 C>T	16	50750561	50750561	C	T	NOD2	c.2526C>T	NM_022162.1	NP_071445.1:p.(Cys842=)	NC_000016.9:g.50750561C>T	(Likely) benign	1 lab	c494389ca5
1:62739864 KANK4 C>T	1	62739864	62739864	C	T	KANK4	c.912G>A	NM_181712.5	NP_859063.3:p.(Glu304=)	NC_000001.10:g.62739864C>T	(Likely) benign	1 lab	c498c2f329
2:73718160 ALMS1 C>G	2	73718160	73718160	C	G	ALMS1	c.9077C>G	NM_015120.4	NP_055935.4:p.(Pro3026Arg)	NC_000002.11:g.73718160C>G	(Likely) pathogenic	1 lab	c49ba4659f
14:65234169 SPTB C>T	14	65234169	65234169	C	T	SPTB	c.6220-99G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234169C>T	(Likely) benign	1 lab	c49ba9cb87
5:36629601 SLC1A3 A>G	5	36629601	36629601	A	G	SLC1A3	c.231A>G	NM_004172.5	NP_004163.3:p.(Glu77=)	NC_000005.9:g.36629601A>G	(Likely) benign	1 lab	c4a102cb86
17:3561470 CTNS G>A	17	3561470	3561470	G	A	CTNS	c.852+1G>A	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3561470G>A	(Likely) pathogenic	1 lab	c4a41c61a7
2:87017683 CD8A G>A	2	87017683	87017683	G	A	CD8A	c.171C>T	NM_001768.6	NP_001759.3:p.(Leu57=)	NC_000002.11:g.87017683G>A	(Likely) benign	1 lab	c4a62ecd8b
15:64686301 TRIP4 C>T	15	64686301	64686301	C	T	TRIP4	c.258C>T	NM_016213.5	NP_057297.2:p.(Cys86=)	NC_000015.9:g.64686301C>T	(Likely) benign	1 lab	c4b34ee3c4
2:202245944 TRAK2 TAA>T	2	202245944	202245961	TAA	T	TRAK2	c.2070-5_2070-4del	NM_015049.3	NP_055864.2:p.?	NC_000002.11:g.202245960_202245961del	(Likely) benign	1 lab	c4b51df6fa
2:167138324 SCN9A A>T	2	167138324	167138324	A	T	SCN9A	c.1942-6T>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138324A>T	(Likely) benign	1 lab	c4bbb68145
22:32188244 DEPDC5 G>A	22	32188244	32188244	G	A	DEPDC5	c.694+156G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188244G>A	(Likely) benign	1 lab	c4c78ef858
5:131055122 FNIP1 C>A	5	131055122	131055122	C	A	FNIP1	c.355-12G>T	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.131055122C>A	(Likely) benign	1 lab	c4c8c9877b
16:3297101 MEFV C>T	16	3297101	3297101	C	T	MEFV	c.1502G>A	NM_000243.2	NP_000234.1:p.(Arg501His)	NC_000016.9:g.3297101C>T	(Likely) benign	1 lab	c4d3ebbac1
2:233320967 ALPI G>A	2	233320967	233320967	G	A	ALPI	c.58G>A	NM_001631.5	NP_001622.2:p.(Val20Ile)	NC_000002.11:g.233320967G>A	(Likely) benign	1 lab	c4d6a12de5
X:101092508 NXF5 G>A	X	101092508	101092508	G	A	NXF5	c.1038C>T	NM_032946.2	NP_116564.2:p.(Thr346=)	NC_000023.10:g.101092508G>A	(Likely) benign	1 lab	c4d7272f09
15:57910235 MYZAP T>C	15	57910235	57910235	T	C	MYZAP	c.167T>C	NM_001018100.5	NP_001018110.1:p.(Leu56Pro)	NC_000015.9:g.57910235T>C	(Likely) benign	1 lab	c4dae843d8
19:10461854 TYK2 G>A	19	10461854	10461854	G	A	TYK2	c.3319-16C>T	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10461854G>A	(Likely) benign	1 lab	c4de212c9b
2:227912247 COL4A4 G>A	2	227912247	227912247	G	A	COL4A4	c.3233C>T	NM_000092.4	NP_000083.3:p.(Ala1078Val)	NC_000002.11:g.227912247G>A	(Likely) benign	1 lab	c4e81cbf53
2:228145686 COL4A3 G>A	2	228145686	228145686	G	A	COL4A3	c.2452G>A	NM_000091.4	NP_000082.2:p.(Gly818Arg)	NC_000002.11:g.228145686G>A	(Likely) pathogenic	1 lab	c4e85698ac
15:63340705 TPM1 C>T	15	63340705	63340705	C	T	TPM1	c.-70C>T	NM_001018008.2	NP_001018008.1:p.?	NC_000015.9:g.63340705C>T	(Likely) benign	1 lab	d76f7d3a09
12:110034353 MVK C>T	12	110034353	110034353	C	T	MVK	c.1162C>T	NM_000431.2	NP_000422.1:p.(Arg388Ter)	NC_000012.11:g.110034353C>T	(Likely) pathogenic	1 lab	c4ee0c7f81
X:153296526 MECP2 G>A	X	153296526	153296526	G	A	MECP2	c.753C>T	NM_004992.3	NP_004983.1:p.(Pro251=)	NC_000023.10:g.153296526G>A	(Likely) benign	1 lab	c4efc17ea7
19:11618630 ECSIT G>A	19	11618630	11618630	G	A	ECSIT	c.832C>T	NM_016581.5	NP_057665.2:p.(Arg278Cys)	NC_000019.9:g.11618630G>A	(Likely) benign	1 lab	c4f0478055
11:17801157 KCNC1 G>T	11	17801157	17801157	G	T	KCNC1	c.1659G>T	NM_001112741.1	NP_001106212.1:p.(Glu553Asp)	NC_000011.9:g.17801157G>T	(Likely) benign	1 lab	c4f069245b
9:134394829 POMT1 G>A	9	134394829	134394829	G	A	POMT1	c.1444G>A	NM_001353198.2	NP_001340127.2:p.(Val482Ile)	NC_000009.11:g.134394829G>A	(Likely) benign	1 lab	c4fac07848
11:67816683 TCIRG1 C>T	11	67816683	67816683	C	T	TCIRG1				NC_000011.9:g.67816683C>T	(Likely) benign	1 lab	c4fc6a7ed0
22:18639653 USP18 C>T	22	18639653	18639653	C	T	USP18	c.-106-672C>T	NM_017414.4	NP_059110.2:p.?	NC_000022.10:g.18639653C>T	(Likely) benign	1 lab	d770545ca2
15:93552229 CHD2 C>A	15	93552229	93552229	C	A	CHD2	c.4414-146C>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93552229C>A	(Likely) benign	1 lab	c4ff688dfe
X:41448860 CASK A>C	X	41448860	41448860	A	C	CASK	c.1156-15T>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41448860A>C	(Likely) benign	1 lab	c50741f144
22:36680195 MYH9 G>A	22	36680195	36680195	G	A	MYH9	c.5709C>T	NM_002473.5	NP_002464.1:p.(Ala1903=)	NC_000022.10:g.36680195G>A	(Likely) benign	1 lab	c50b2daa37
8:72211957 EYA1 T>C	8	72211957	72211957	T	C	EYA1	c.557-2A>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72211957T>C	(Likely) pathogenic	1 lab	c6b191f404
2:179501478 TTN A>T	2	179501478	179501478	A	T	TTN	c.14156T>A	NM_133432.3	NP_597676.3:p.(Leu4719Ter)	NC_000002.11:g.179501478A>T	(Likely) pathogenic	1 lab	c511d6185b
16:53675189 RPGRIP1L A>G	16	53675189	53675189	A	G	RPGRIP1L	c.2874+8T>C	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53675189A>G	(Likely) benign	1 lab	c5172404d9
6:31929148 SKIC2 A>G	6	31929148	31929148	A	G	SKIC2	c.774A>G	NM_006929.5	NP_008860.4:p.(Glu258=)	NC_000006.11:g.31929148A>G	(Likely) benign	1 lab	c519aefbb7
11:19209700 CSRP3 G>T	11	19209700	19209700	G	T	CSRP3				NC_000011.9:g.19209700G>T	(Likely) benign	1 lab	c51b24e215
5:147474050 SPINK5 T>C	5	147474050	147474050	T	C	SPINK5	c.794+6T>C	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147474050T>C	(Likely) pathogenic	1 lab	c51b2feb56
21:44838421 SIK1 C>T	21	44838421	44838421	C	T	SIK1	c.1463G>A	NM_173354.5	NP_775490.2:p.(Cys488Tyr)	NC_000021.8:g.44838421C>T	(Likely) benign	1 lab	d771c2034e
11:94163164 MRE11 C>A	11	94163164	94163164	C	A	MRE11	c.1911-12G>T	NM_005590.4	NP_005581.2:p.?	NC_000011.9:g.94163164C>A	(Likely) benign	1 lab	c51e390332
14:23245086 SLC7A7 T>A	14	23245086	23245086	T	A	SLC7A7	c.954A>T	NM_001126106.2	NP_001119578.1:p.(Leu318Phe)	NC_000014.8:g.23245086T>A	(Likely) benign	1 lab	c5286c475f
X:53562329 HUWE1 G>C	X	53562329	53562329	G	C	HUWE1	c.12649+16C>G	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53562329G>C	(Likely) benign	1 lab	c529ae8599
16:3711977 TRAP1 C>T	16	3711977	3711977	C	T	TRAP1	c.1940+11G>A	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3711977C>T	(Likely) benign	1 lab	c52dc03c15
4:87022968 MAPK10 C>T	4	87022968	87022968	C	T	MAPK10	c.564+79G>A	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.87022968C>T	(Likely) benign	1 lab	c536738afb
7:106508552 PIK3CG C>T	7	106508552	106508552	C	T	PIK3CG	c.546C>T	NM_002649.3	NP_002640.2:p.(Thr182=)	NC_000007.13:g.106508552C>T	(Likely) benign	1 lab	c53a36c69e
12:15669742 PTPRO C>T	12	15669742	15669742	C	T	PTPRO	c.1631C>T	NM_030667.3	NP_109592.1:p.(Thr544Met)	NC_000012.11:g.15669742C>T	VUS	1 lab	d7777f97e8
X:1464208 IL3RA G>C	X	1464208	1464208	G	C	IL3RA	c.65-1G>C	NM_002183.4	NP_002174.1:p.?	NC_000023.10:g.1464208G>C	(Likely) pathogenic	1 lab	c5418ca6bb
7:77648671 MAGI2 G>C	7	77648671	77648671	G	C	MAGI2	c.4329C>G	NM_012301.4	NP_036433.2:p.(Pro1443=)	NC_000007.13:g.77648671G>C	(Likely) benign	1 lab	c541c0b1be
5:90119453 ADGRV1 A>G	5	90119453	90119453	A	G	ADGRV1	c.16368+40A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90119453A>G	(Likely) benign	1 lab	c541c9b631
19:55663167 TNNI3 G>A	19	55663167	55663167	G	A	TNNI3	c.*35C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55663167G>A	(Likely) benign	1 lab	c541e9888f
2:110922187 NPHP1 C>T	2	110922187	110922187	C	T	NPHP1	c.849G>A	NM_000272.4	NP_000263.2:p.(Val283=)	NC_000002.11:g.110922187C>T	(Likely) benign	1 lab	c546863beb
8:27324924 CHRNA2 C>T	8	27324924	27324924	C	T	CHRNA2	c.340-69G>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27324924C>T	(Likely) benign	1 lab	c547f5274c
19:17622577 PGLS C>T	19	17622577	17622577	C	T	PGLS	c.96C>T	NM_012088.3	NP_036220.1:p.(Cys32=)	NC_000019.9:g.17622577C>T	(Likely) benign	1 lab	c5498b8945
19:40978508 SPTBN4 G>C	19	40978508	40978508	G	C	SPTBN4	c.-15-6G>C	NM_020971.3	NP_066022.2:p.?	NC_000019.9:g.40978508G>C	(Likely) benign	1 lab	c54a855ddc
7:70228059 AUTS2 C>T	7	70228059	70228059	C	T	AUTS2	c.946C>T	NM_015570.4	NP_056385.1:p.(Arg316Ter)	NC_000007.13:g.70228059C>T	(Likely) pathogenic	1 lab	c55aecd28f
19:6686908 C3 C>A	19	6686908	6686908	C	A	C3	c.3495G>T	NM_000064.2	NP_000055.2:p.(Leu1165=)	NC_000019.9:g.6686908C>A	(Likely) benign	1 lab	c55b9efcb4
12:111748382 CUX2 G>A	12	111748382	111748382	G	A	CUX2	c.1796G>A	NM_015267.4	NP_056082.2:p.(Arg599His)	NC_000012.11:g.111748382G>A	(Likely) benign	1 lab	d77a8b5964
16:1259406 CACNA1H G>A	16	1259406	1259406	G	A	CACNA1H	c.3738G>A	NM_021098.3	NP_066921.2:p.(Ser1246=)	NC_000016.9:g.1259406G>A	(Likely) benign	1 lab	c566d85fe9
5:137219237 MYOT T>C	5	137219237	137219237	T	C	MYOT	c.981T>C	NM_006790.2	NP_006781.1:p.(Asn327=)	NC_000005.9:g.137219237T>C	(Likely) benign	1 lab	c5688cd828
16:3304272 MEFV T>C	16	3304272	3304272	T	C	MEFV	c.796A>G	NM_000243.2	NP_000234.1:p.(Lys266Glu)	NC_000016.9:g.3304272T>C	VUS	1 lab	c56b6b444a
5:160973808 GABRB2 T>TA	5	160973808	160973825	T	TA	GABRB2	c.-152-8dup	NM_021911.2	NP_068711.1:p.?	NC_000005.9:g.160973825dup	(Likely) benign	1 lab	c575dad983
1:160318799 NCSTN T>C	1	160318799	160318799	T	C	NCSTN	c.201T>C	NM_015331.3	NP_056146.1:p.(Ser67=)	NC_000001.10:g.160318799T>C	(Likely) benign	1 lab	c57b038be6
10:96997872 PDLIM1 C>T	10	96997872	96997872	C	T	PDLIM1	c.804-4G>A	NM_020992.4	NP_066272.1:p.?	NC_000010.10:g.96997872C>T	(Likely) benign	1 lab	c57b93fdc8
1:206944861 IL10 A>C	1	206944861	206944861	A	C	IL10	c.166-101T>G	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944861A>C	(Likely) benign	1 lab	c57d117322
10:96018920 PLCE1 T>G	10	96018920	96018920	T	G	PLCE1	c.3814+13T>G	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96018920T>G	(Likely) benign	1 lab	c57d4d7b51
1:1458187 ATAD3A G>A	1	1458187	1458187	G	A	ATAD3A	c.814G>A	NM_001170535.3	NP_001164006.1:p.(Gly272Ser)	NC_000001.10:g.1458187G>A	VUS	1 lab	d77c86806a
2:168103701 XIRP2 A>G	2	168103701	168103701	A	G	XIRP2	c.5799A>G	NM_152381.6	NP_689594.4:p.(Gln1933=)	NC_000002.11:g.168103701A>G	(Likely) benign	1 lab	c583ebf307
9:77257500 RORB G>A	9	77257500	77257500	G	A	RORB	c.406G>A	NM_006914.4	NP_008845.2:p.(Glu136Lys)	NC_000009.11:g.77257500G>A	(Likely) benign	1 lab	c58f40f486
1:161479827 FCGR2A G>A	1	161479827	161479827	G	A	FCGR2A	c.582G>A	NM_001136219.3	NP_001129691.1:p.(Thr194=)	NC_000001.10:g.161479827G>A	(Likely) benign	1 lab	c590432870
21:46326930 ITGB2 G>A	21	46326930	46326930	G	A	ITGB2	c.228C>T	NM_001127491.3	NP_001120963.2:p.(Asp76=)	NC_000021.8:g.46326930G>A	(Likely) benign	1 lab	c595811d9e
8:145738649 RECQL4 G>A	8	145738649	145738649	G	A	RECQL4	c.2415C>T	NM_004260.3	NP_004251.3:p.(Ala805=)	NC_000008.10:g.145738649G>A	(Likely) benign	1 lab	c5a3a8f3ff
5:147491312 SPINK5 C>T	5	147491312	147491312	C	T	SPINK5	c.1693-19C>T	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147491312C>T	(Likely) benign	1 lab	c5a4e67b84
1:183205708 LAMC2 G>C	1	183205708	183205708	G	C	LAMC2	c.2570G>C	NM_005562.3	NP_005553.2:p.(Arg857Pro)	NC_000001.10:g.183205708G>C	(Likely) benign	1 lab	d781070176
16:2150076 PKD1 G>A	16	2150076	2150076	G	A	PKD1	c.9713-4C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2150076G>A	(Likely) benign	1 lab	c5a904d245
X:71885990 PHKA1 T>C	X	71885990	71885990	T	C	PHKA1	c.864+11A>G	NM_002637.4	NP_002628.2:p.?	NC_000023.10:g.71885990T>C	(Likely) benign	1 lab	c5a9db394c
18:59740228 PIGN A>T	18	59740228	59740228	A	T	PIGN	c.2620-270T>A	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59740228A>T	(Likely) benign	1 lab	c5ada2d8fe
5:88025166 MEF2C T>C	5	88025166	88025166	T	C	MEF2C	c.835-2A>G	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88025166T>C	(Likely) pathogenic	1 lab	c5b0a997ad
1:245019741 HNRNPU A>G	1	245019741	245019741	A	G	HNRNPU	c.1912+18T>C	NM_031844.3	NP_114032.2:p.?	NC_000001.10:g.245019741A>G	(Likely) benign	1 lab	c5b29b321f
1:29323595 EPB41 T>C	1	29323595	29323595	T	C	EPB41	c.55-132T>C	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29323595T>C	(Likely) benign	1 lab	c5b346bd3e
16:2162359 PKD1 G>A	16	2162359	2162359	G	A	PKD1	c.3277C>T	NM_001009944.2	NP_001009944.2:p.(His1093Tyr)	NC_000016.9:g.2162359G>A	(Likely) benign	1 lab	c5b5020aa7
16:3726094 TRAP1 T>C	16	3726094	3726094	T	C	TRAP1	c.757A>G	NM_016292.3	NP_057376.2:p.(Ile253Val)	NC_000016.9:g.3726094T>C	(Likely) benign	1 lab	c5b75f9c98
1:17380547 SDHB C>A	1	17380547	17380547	C	A	SDHB	c.-33G>T	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17380547C>A	(Likely) benign	1 lab	c5bcd53f55
15:91328261 BLM T>G	15	91328261	91328261	T	G	BLM	c.2773T>G	NM_000057.2	NP_000048.1:p.(Ser925Ala)	NC_000015.9:g.91328261T>G	(Likely) benign	1 lab	c5be25fbad
5:7889194 MTRR G>A	5	7889194	7889194	G	A	MTRR	c.1147-14G>A	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7889194G>A	(Likely) benign	1 lab	c5bec7435e
9:102888672 INVS T>C	9	102888672	102888672	T	C	INVS	c.114T>C	NM_014425.5	NP_055240.2:p.(Ser38=)	NC_000009.11:g.102888672T>C	(Likely) benign	1 lab	c5bf35da7d
20:18453535 POLR3F A>G	20	18453535	18453535	A	G	POLR3F	c.107A>G	NM_001282526.2	NP_001269455.1:p.(Lys36Arg)	NC_000020.10:g.18453535A>G	VUS	1 lab	c5c127dc6a
1:164532475 PBX1 A>G	1	164532475	164532475	A	G	PBX1	c.192A>G	NM_002585.3	NP_002576.1:p.(Arg64=)	NC_000001.10:g.164532475A>G	(Likely) benign	1 lab	c5c5cf884d
9:130428566 STXBP1 A>T	9	130428566	130428566	A	T	STXBP1	c.785A>T	NM_003165.6	NP_003156.1:p.(Asp262Val)	NC_000009.11:g.130428566A>T	(Likely) pathogenic	1 lab	c5c6d306d7
22:51018179 CHKB T>A	22	51018179	51018179	T	A	CHKB	c.1008A>T	NM_005198.4	NP_005189.2:p.(Glu336Asp)	NC_000022.10:g.51018179T>A	(Likely) benign	1 lab	c5c9f3446b
1:207510691 CD55 G>A	1	207510691	207510691	G	A	CD55	c.997G>A	NM_000574.3	NP_000565.1:p.(Val333Ile)	NC_000001.10:g.207510691G>A	(Likely) benign	1 lab	c5ca6b69fd
6:33403022 SYNGAP1 T>G	6	33403022	33403022	T	G	SYNGAP1	c.603T>G	NM_006772.3	NP_006763.2:p.(Asp201Glu)	NC_000006.11:g.33403022T>G	(Likely) benign	1 lab	c5ca8038f8
12:98926928 TMPO C>T	12	98926928	98926928	C	T	TMPO	c.893C>T	NM_003276.2	NP_003267.1:p.(Pro298Leu)	NC_000012.11:g.98926928C>T	(Likely) benign	1 lab	c5cf6c97f9
2:231042873 SP110 C>T	2	231042873	231042873	C	T	SP110	c.1447G>A	NM_004509.4	NP_004500.4:p.(Gly483Arg)	NC_000002.11:g.231042873C>T	(Likely) benign	1 lab	c5d35cb67a
13:52509765 ATP7B G>T	13	52509765	52509765	G	T	ATP7B	c.4088C>A	NM_000053.4	NP_000044.2:p.(Ser1363Tyr)	NC_000013.10:g.52509765G>T	(Likely) pathogenic	1 lab	c5d58970c9
18:56367815 MALT1 G>T	18	56367815	56367815	G	T	MALT1	c.641G>T	NM_006785.4	NP_006776.1:p.(Ser214Ile)	NC_000018.9:g.56367815G>T	(Likely) benign	1 lab	c5f3c4094a
1:154544662 CHRNB2 G>A	1	154544662	154544662	G	A	CHRNB2	c.1338+25G>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154544662G>A	(Likely) benign	1 lab	c5dc0caf7b
1:214830592 CENPF A>G	1	214830592	214830592	A	G	CENPF	c.8802A>G	NM_016343.4	NP_057427.3:p.(Arg2934=)	NC_000001.10:g.214830592A>G	(Likely) benign	1 lab	c5e0d0581e
12:110034276 MVK G>T	12	110034276	110034276	G	T	MVK	c.1085G>T	NM_000431.2	NP_000422.1:p.(Ser362Ile)	NC_000012.11:g.110034276G>T	VUS	1 lab	c5e4714e3f
10:85904773 GHITM G>T	10	85904773	85904773	G	T	GHITM	c.483+1G>T	NM_014394.3	NP_055209.2:p.?	NC_000010.10:g.85904773G>T	VUS	1 lab	d781e3e3a4
9:14747709 FREM1 A>T	9	14747709	14747709	A	T	FREM1	c.5814T>A	NM_144966.5	NP_659403.4:p.(Val1938=)	NC_000009.11:g.14747709A>T	(Likely) benign	1 lab	c5e593cab0
7:128497246 FLNC T>A	7	128497246	128497246	T	A	FLNC	c.7636T>A	NM_001458.4	NP_001449.3:p.(Ser2546Thr)	NC_000007.13:g.128497246T>A	(Likely) benign	1 lab	c5e7df25ab
1:104076379 RNPC3 C>T	1	104076379	104076379	C	T	RNPC3	c.259C>T	NM_017619.4	NP_060089.1:p.(Gln87Ter)	NC_000001.10:g.104076379C>T	(Likely) pathogenic	1 lab	c5e81a177e
22:31011280 TCN2 A>G	22	31011280	31011280	A	G	TCN2	c.500-8A>G	NM_001184726.1	NP_001171655.1:p.?	NC_000022.10:g.31011280A>G	(Likely) benign	1 lab	c5e9c43367
X:47072595 UBA1 C>T	X	47072595	47072595	C	T	UBA1	c.2838+15C>T	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47072595C>T	(Likely) benign	1 lab	c5ea15e363
22:37888645 CARD10 T>C	22	37888645	37888645	T	C	CARD10	c.2635+6A>G	NM_014550.4	NP_055365.2:p.?	NC_000022.10:g.37888645T>C	(Likely) benign	1 lab	c5ec3e024c
16:88788045 PIEZO1 G>A	16	88788045	88788045	G	A	PIEZO1	c.5304C>T	NM_001142864.4	NP_001136336.2:p.(Tyr1768=)	NC_000016.9:g.88788045G>A	(Likely) benign	1 lab	c5ef2cedbd
9:137619117 COL5A1 C>T	9	137619117	137619117	C	T	COL5A1	c.660C>T	NM_000093.4	NP_000084.3:p.(Asp220=)	NC_000009.11:g.137619117C>T	(Likely) benign	1 lab	c5f09694ba
17:73728069 ITGB4 C>T	17	73728069	73728069	C	T	ITGB4	c.1377+15C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73728069C>T	(Likely) benign	1 lab	c5f168ee87
20:62076743 KCNQ2 C>A	20	62076743	62076743	C	A	KCNQ2	c.388-26G>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62076743C>A	(Likely) benign	1 lab	c5f2a1c887
2:166183297 SCN2A A>G	2	166183297	166183297	A	G	SCN2A	c.2017-65A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183297A>G	VUS	1 lab	c6b5420198
16:1261550 CACNA1H C>T	16	1261550	1261550	C	T	CACNA1H	c.4420C>T	NM_021098.3	NP_066921.2:p.(Arg1474Trp)	NC_000016.9:g.1261550C>T	(Likely) benign	1 lab	c5f70f4c86
5:176813246 SLC34A1 G>A	5	176813246	176813246	G	A	SLC34A1	c.284G>A	NM_003052.5	NP_003043.3:p.(Arg95His)	NC_000005.9:g.176813246G>A	(Likely) benign	1 lab	c5f89128a3
17:78179465 CARD14 C>G	17	78179465	78179465	C	G	CARD14	c.2691+14C>G	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78179465C>G	(Likely) benign	1 lab	c5fd4bdb1d
16:4852374 ROGDI G>C	16	4852374	4852374	G	C	ROGDI	c.117+9C>G	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4852374G>C	(Likely) benign	1 lab	c5fd913570
17:42337091 SLC4A1 C>T	17	42337091	42337091	C	T	SLC4A1	c.609+86G>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42337091C>T	(Likely) benign	1 lab	c5fef0d2ae
22:31013393 TCN2 C>G	22	31013393	31013393	C	G	TCN2	c.936C>G	NM_001184726.1	NP_001171655.1:p.(Leu312=)	NC_000022.10:g.31013393C>G	(Likely) benign	1 lab	c601605f37
X:119676806 CUL4B C>T	X	119676806	119676806	C	T	CUL4B	c.1378+15G>A	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119676806C>T	(Likely) benign	1 lab	c6042ed62b
14:23901890 MYH7 T>A	14	23901890	23901890	T	A	MYH7	c.460A>T	NM_000257.4	NP_000248.2:p.(Ile154Phe)	NC_000014.8:g.23901890T>A	VUS	1 lab	d783aa7787
12:76740999 BBS10 G>A	12	76740999	76740999	G	A	BBS10	c.766C>T	NM_024685.4	NP_078961.3:p.(Arg256Ter)	NC_000012.11:g.76740999G>A	(Likely) pathogenic	1 lab	c60f44dcc5
2:227924844 COL4A4 T>A	2	227924844	227924844	T	A	COL4A4	c.2164+8A>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924844T>A	(Likely) benign	1 lab	c612efbb56
16:4851599 ROGDI G>C	16	4851599	4851599	G	C	ROGDI	c.118-13C>G	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4851599G>C	(Likely) benign	1 lab	c61566e54c
9:77280459 RORB C>T	9	77280459	77280459	C	T	RORB	c.948C>T	NM_006914.4	NP_008845.2:p.(Asn316=)	NC_000009.11:g.77280459C>T	(Likely) benign	1 lab	c616d1bd51
2:39216397 SOS1 C>G	2	39216397	39216397	C	G	SOS1	c.3391+14G>C	NM_005633.3	NP_005624.2:p.?	NC_000002.11:g.39216397C>G	(Likely) benign	1 lab	c61bfbf2ae
2:231077683 SP110 C>T	2	231077683	231077683	C	T	SP110	c.376G>A	NM_080424.2	NP_536349.2:p.(Gly126Ser)	NC_000002.11:g.231077683C>T	(Likely) benign	1 lab	c61d6ddf2f
2:109370225 RANBP2 C>A	2	109370225	109370225	C	A	RANBP2	c.2056-56C>A	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109370225C>A	(Likely) benign	1 lab	c62319fcef
8:41529889 ANK1 C>CCTGA	8	41529889	41529890	C	CCTGA	ANK1	c.5078_5079insTCAG	NM_000037.4	NP_000028.3:p.(Glu1694GlnfsTer48)	NC_000008.10:g.41529889_41529890insCTGA	(Likely) pathogenic	1 lab	c6257d7a08
17:63545622 AXIN2 T>C	17	63545622	63545622	T	C	AXIN2	c.956+16A>G	NM_004655.3	NP_004646.3:p.?	NC_000017.10:g.63545622T>C	(Likely) benign	1 lab	c626823f91
4:106196593 TET2 C>T	4	106196593	106196593	C	T	TET2	c.4926C>T	NM_001127208.2	NP_001120680.1:p.(Cys1642=)	NC_000004.11:g.106196593C>T	(Likely) benign	1 lab	c626adc5bb
3:45811740 SLC6A20 C>T	3	45811740	45811740	C	T	SLC6A20	c.1059G>A	NM_020208.4	NP_064593.1:p.(Pro353=)	NC_000003.11:g.45811740C>T	(Likely) benign	1 lab	c6282f618f
16:81892048 PLCG2 A>C	16	81892048	81892048	A	C	PLCG2	c.431+87A>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81892048A>C	(Likely) benign	1 lab	c62adcfbf4
17:56772324 RAD51C ACT>A	17	56772324	56772328	ACT	A	RAD51C	c.181_182del	NM_058216.3	NP_478123.1:p.(Leu61AlafsTer11)	NC_000017.10:g.56772327_56772328del	(Likely) pathogenic	1 lab	c6341248e7
2:220100229 ANKZF1 G>A	2	220100229	220100229	G	A	ANKZF1	c.1725G>A	NM_018089.3	NP_060559.2:p.(Ala575=)	NC_000002.11:g.220100229G>A	(Likely) benign	1 lab	c63672354c
2:233320993 ALPI A>G	2	233320993	233320993	A	G	ALPI	c.67+17A>G	NM_001631.5	NP_001622.2:p.?	NC_000002.11:g.233320993A>G	(Likely) benign	1 lab	c63732de1d
16:23641046 PALB2 G>A	16	23641046	23641046	G	A	PALB2	c.2429C>T	NM_024675.3	NP_078951.2:p.(Pro810Leu)	NC_000016.9:g.23641046G>A	VUS	1 lab	c639df927f
19:36342482 NPHS1 G>A	19	36342482	36342482	G	A	NPHS1	c.151C>T	NM_004646.3	NP_004637.1:p.(Leu51=)	NC_000019.9:g.36342482G>A	(Likely) benign	1 lab	c63c9d7d33
9:124044794 GSN C>T	9	124044794	124044794	C	T	GSN	c.65C>T	NM_001127663.2	NP_001121135.2:p.(Pro22Leu)	NC_000009.11:g.124044794C>T	(Likely) benign	1 lab	c63da81b6a
20:390858 RBCK1 T>C	20	390858	390858	T	C	RBCK1	c.167+189T>C	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.390858T>C	(Likely) benign	1 lab	c6f13f9100
4:149181254 NR3C2 A>G	4	149181254	149181254	A	G	NR3C2	c.1773T>C	NM_000901.5	NP_000892.2:p.(Ser591=)	NC_000004.11:g.149181254A>G	(Likely) benign	1 lab	c63de38aeb
18:48591912 SMAD4 G>T	18	48591912	48591912	G	T	SMAD4	c.1075G>T	NM_005359.5	NP_005350.1:p.(Gly359Ter)	NC_000018.9:g.48591912G>T	(Likely) pathogenic	1 lab	c63e430c4f
6:133834039 EYA4 G>T	6	133834039	133834039	G	T	EYA4	c.1364G>T	NM_004100.5	NP_004091.3:p.(Gly455Val)	NC_000006.11:g.133834039G>T	VUS	1 lab	c63ecad0bd
16:20352615 UMOD G>A	16	20352615	20352615	G	A	UMOD	c.1375C>T	NM_003361.3	NP_003352.2:p.(Arg459Trp)	NC_000016.9:g.20352615G>A	(Likely) benign	1 lab	c64705e4ac
8:68419270 CPA6 C>T	8	68419270	68419270	C	T	CPA6	c.535-147G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68419270C>T	(Likely) benign	1 lab	c64bd34a1d
17:10542615 MYH3 G>A	17	10542615	10542615	G	A	MYH3	c.3102C>T	NM_002470.4	NP_002461.2:p.(Asp1034=)	NC_000017.10:g.10542615G>A	(Likely) benign	1 lab	c6501c8cc9
7:123296068 LMOD2 C>T	7	123296068	123296068	C	T	LMOD2	c.51C>T	NM_207163.3	NP_997046.1:p.(Asp17=)	NC_000007.13:g.123296068C>T	(Likely) benign	1 lab	c6524de394
X:100625060 BTK T>C	X	100625060	100625060	T	C	BTK	c.317A>G	NM_000061.2	NP_000052.1:p.(Tyr106Cys)	NC_000023.10:g.100625060T>C	(Likely) pathogenic	1 lab	c654f3d0ca
1:155261684 PKLR A>G	1	155261684	155261684	A	G	PKLR	c.1481T>C	NM_000298.6	NP_000289.1:p.(Ile494Thr)	NC_000001.10:g.155261684A>G	VUS	1 lab	c65976ecd2
16:11855323 ZC3H7A C>A	16	11855323	11855323	C	A	ZC3H7A	c.2258G>T	NM_014153.4	NP_054872.2:p.(Arg753Leu)	NC_000016.9:g.11855323C>A	(Likely) benign	1 lab	c66328a421
17:73227910 NUP85 C>T	17	73227910	73227910	C	T	NUP85	c.1245-13C>T	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73227910C>T	(Likely) benign	1 lab	c667a0a7fe
9:37422763 GRHPR C>T	9	37422763	37422763	C	T	GRHPR	c.16C>T	NM_012203.2	NP_036335.1:p.(Leu6Phe)	NC_000009.11:g.37422763C>T	(Likely) benign	1 lab	c667b21cf0
2:40401827 SLC8A1 T>C	2	40401827	40401827	T	C	SLC8A1	c.1969+19A>G	NM_021097.4	NP_066920.1:p.?	NC_000002.11:g.40401827T>C	(Likely) benign	1 lab	c6699053c2
2:227872887 COL4A4 C>T	2	227872887	227872887	C	T	COL4A4	c.4656G>A	NM_000092.4	NP_000083.3:p.(Met1552Ile)	NC_000002.11:g.227872887C>T	(Likely) benign	1 lab	c6712a98a9
8:41542350 ANK1 A>G	8	41542350	41542350	A	G	ANK1	c.4391-142T>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41542350A>G	(Likely) benign	1 lab	c6762bca87
3:184090390 THPO G>A	3	184090390	184090390	G	A	THPO	c.973C>T	NM_000460.4	NP_000451.1:p.(Pro325Ser)	NC_000003.11:g.184090390G>A	(Likely) benign	1 lab	c67acc151c
5:39331765 C9 C>T	5	39331765	39331765	C	T	C9	c.615+13G>A	NM_001737.3	NP_001728.1:p.?	NC_000005.9:g.39331765C>T	(Likely) benign	1 lab	c67b18fa13
8:144995477 PLEC C>T	8	144995477	144995477	C	T	PLEC	c.8593G>A	NM_000445.5	NP_000436.2:p.(Glu2865Lys)	NC_000008.10:g.144995477C>T	VUS	1 lab	d78a6117d6
4:158005840 GLRB A>G	4	158005840	158005840	A	G	GLRB	c.122+6542A>G	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.158005840A>G	(Likely) benign	1 lab	c67d8e2db8
16:30100477 TBX6 G>A	16	30100477	30100477	G	A	TBX6	c.408C>T	NM_004608.3	NP_004599.2:p.(Arg136=)	NC_000016.9:g.30100477G>A	(Likely) benign	1 lab	c67ed84d85
16:335548 PDIA2 G>C	16	335548	335548	G	C	PDIA2	c.964G>C	NM_006849.4	NP_006840.2:p.(Val322Leu)	NC_000016.9:g.335548G>C	VUS	1 lab	d78c4a4606
2:202149628 CASP8 A>G	2	202149628	202149628	A	G	CASP8	c.1069A>G	NM_001080125.2	NP_001073594.1:p.(Ile357Val)	NC_000002.11:g.202149628A>G	(Likely) benign	1 lab	c68795de87
2:225422317 CUL3 G>A	2	225422317	225422317	G	A	CUL3	c.264+59C>T	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225422317G>A	(Likely) benign	1 lab	c689078d3c
X:53432337 SMC1A G>A	X	53432337	53432337	G	A	SMC1A	c.1912-14C>T	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53432337G>A	(Likely) benign	1 lab	c68a7c4312
22:20779708 SCARF2 T>C	22	20779708	20779708	T	C	SCARF2	c.2573A>G	NM_153334.7	NP_699165.3:p.(Glu858Gly)	NC_000022.10:g.20779708T>C	VUS	1 lab	c68e8a123e
11:47858539 NUP160 G>A	11	47858539	47858539	G	A	NUP160	c.842C>T	NM_015231.2	NP_056046.1:p.(Pro281Leu)	NC_000011.9:g.47858539G>A	(Likely) benign	1 lab	c68f94137d
18:43495485 EPG5 C>T	18	43495485	43495485	C	T	EPG5	c.3684G>A	NM_020964.3	NP_066015.2:p.(Thr1228=)	NC_000018.9:g.43495485C>T	(Likely) benign	1 lab	c694e4fced
2:179395130 TTN T>G	2	179395130	179395130	T	G	TTN	c.106212A>C	NM_001267550.1	NP_001254479.1:p.(Val35404=)	NC_000002.11:g.179395130T>G	(Likely) benign	1 lab	c6983697a4
9:136405800 ADAMTSL2 G>A	9	136405800	136405800	G	A	ADAMTSL2	c.493G>A	NM_001145320.1	NP_001138792.1:p.(Ala165Thr)	NC_000009.11:g.136405800G>A	(Likely) pathogenic	1 lab	c69a5aa8dd
4:79421011 FRAS1 G>T	4	79421011	79421011	G	T	FRAS1	c.9252G>T	NM_025074.7	NP_079350.5:p.(Arg3084=)	NC_000004.11:g.79421011G>T	(Likely) benign	1 lab	c69b20bfd9
16:4387414 GLIS2 G>A	16	4387414	4387414	G	A	GLIS2	c.1464G>A	NM_032575.2	NP_115964.2:p.(Leu488=)	NC_000016.9:g.4387414G>A	(Likely) benign	1 lab	c69d1f10f0
6:112450188 LAMA4 G>A	6	112450188	112450188	G	A	LAMA4	c.4223C>T	NM_001105206.3	NP_001098676.2:p.(Pro1408Leu)	NC_000006.11:g.112450188G>A	VUS	1 lab	d78ff1b306
10:95517911 LGI1 G>A	10	95517911	95517911	G	A	LGI1	c.10G>A	NM_005097.3	NP_005088.1:p.(Glu4Lys)	NC_000010.10:g.95517911G>A	(Likely) benign	1 lab	c6acc41c98
3:132400776 NPHP3 A>G	3	132400776	132400776	A	G	NPHP3	c.3971T>C	NM_153240.5	NP_694972.3:p.(Phe1324Ser)	NC_000003.11:g.132400776A>G	(Likely) benign	1 lab	c6ae837883
1:43903382 SZT2 C>T	1	43903382	43903382	C	T	SZT2	c.6225+11C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43903382C>T	(Likely) benign	1 lab	c6b0eb5c47
8:2037874 MYOM2 C>T	8	2037874	2037874	C	T	MYOM2	c.1688C>T	NM_003970.4	NP_003961.3:p.(Thr563Met)	NC_000008.10:g.2037874C>T	(Likely) benign	1 lab	c6b511b554
19:18180451 IL12RB1 A>G	19	18180451	18180451	A	G	IL12RB1	c.1094T>C	NM_005535.3	NP_005526.1:p.(Met365Thr)	NC_000019.9:g.18180451A>G	(Likely) benign	1 lab	d79398186a
20:35559120 SAMHD1 G>T	20	35559120	35559120	G	T	SAMHD1	c.625+43C>A	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35559120G>T	(Likely) benign	1 lab	c6b7179c0f
9:114355266 PTGR1 CAAAAAAAAAAAAA>C	9	114355266	114355297	CAAAAAAAAAAAAA	C	PTGR1	c.153-17_153-5del	NM_001146108.2	NP_001139580.1:p.?	NC_000009.11:g.114355285_114355297del	(Likely) benign	1 lab	c6bae4ad07
2:179425226 TTN G>C	2	179425226	179425226	G	C	TTN	c.58813C>G	NM_133432.3	NP_597676.3:p.(Leu19605Val)	NC_000002.11:g.179425226G>C	VUS	1 lab	c6bd902bba
11:64575539 MEN1 C>G	11	64575539	64575539	C	G	MEN1	c.493G>C	NM_130804.2	NP_570716.1:p.(Ala165Pro)	NC_000011.9:g.64575539C>G	(Likely) pathogenic	1 lab	c6be68d8b6
12:88443080 CEP290 A>T	12	88443080	88443080	A	T	CEP290	c.7321T>A	NM_025114.4	NP_079390.3:p.(Leu2441Ile)	NC_000012.11:g.88443080A>T	VUS	1 lab	c6be97117d
19:2249404 AMH C>T	19	2249404	2249404	C	T	AMH	c.73C>T	NM_000479.4	NP_000470.2:p.(Leu25Phe)	NC_000019.9:g.2249404C>T	(Likely) benign	1 lab	c6beaf52c3
9:5044540 JAK2 C>T	9	5044540	5044540	C	T	JAK2	c.468+20C>T	NM_004972.3	NP_004963.1:p.?	NC_000009.11:g.5044540C>T	(Likely) benign	1 lab	c6bee50999
5:125897008 ALDH7A1 A>G	5	125897008	125897008	A	G	ALDH7A1	c.872-192T>C	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125897008A>G	(Likely) benign	1 lab	c6c25acbfb
5:524397 SLC9A3 A>G	5	524397	524397	A	G	SLC9A3	c.41T>C	NM_004174.4	NP_004165.2:p.(Leu14Pro)	NC_000005.9:g.524397A>G	(Likely) benign	1 lab	c6c415aae3
9:139409021 NOTCH1 C>T	9	139409021	139409021	C	T	NOTCH1	c.2148G>A	NM_017617.5	NP_060087.3:p.(Glu716=)	NC_000009.11:g.139409021C>T	(Likely) benign	1 lab	c6c81941f0
6:31996932 C4B G>A	6	31996932	31996932	G	A	C4B	c.3505-12G>A	NM_001002029.3	NP_001002029.3:p.?	NC_000006.11:g.31996932G>A	(Likely) benign	1 lab	c6cb6b5edb
15:85197561 WDR73 G>A	15	85197561	85197561	G	A	WDR73	n.14C>T	NR_130945.1		NC_000015.9:g.85197561G>A	(Likely) benign	1 lab	c72ff91bb3
8:61655617 CHD7 A>G	8	61655617	61655617	A	G	CHD7				NC_000008.10:g.61655617A>G	(Likely) benign	1 lab	c6d691b4e0
10:97031372 PDLIM1 C>T	10	97031372	97031372	C	T	PDLIM1	c.248+18G>A	NM_020992.4	NP_066272.1:p.?	NC_000010.10:g.97031372C>T	(Likely) benign	1 lab	c6d9435e40
17:48153033 ITGA3 C>T	17	48153033	48153033	C	T	ITGA3	c.1608C>T	NM_002204.4	NP_002195.1:p.(Ser536=)	NC_000017.10:g.48153033C>T	(Likely) benign	1 lab	c6ddf307f5
15:80473411 FAH G>T	15	80473411	80473411	G	T	FAH	c.1090G>T	NM_000137.4	NP_000128.1:p.(Glu364Ter)	NC_000015.9:g.80473411G>T	(Likely) pathogenic	1 lab	c6e1514d8b
9:14824286 FREM1 A>G	9	14824286	14824286	A	G	FREM1	c.2079-173T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14824286A>G	(Likely) benign	1 lab	c6e5576870
4:5710189 EVC2 G>A	4	5710189	5710189	G	A	EVC2	c.52C>T	NM_147127.5	NP_667338.3:p.(Leu18Phe)	NC_000004.11:g.5710189G>A	(Likely) benign	1 lab	c6e5f5134d
1:247588819 NLRP3 G>A	1	247588819	247588819	G	A	NLRP3	c.2068G>A	NM_001243133.2	NP_001230062.1:p.(Glu690Lys)	NC_000001.10:g.247588819G>A	VUS	1 lab	c6e6b22527
6:88221097 SLC35A1 A>AT	6	88221097	88221108	A	AT	SLC35A1	c.887-9dup	NM_006416.5	NP_006407.1:p.?	NC_000006.11:g.88221108dup	(Likely) benign	1 lab	c6e849a9c2
8:133175757 KCNQ3 G>A	8	133175757	133175757	G	A	KCNQ3	c.1236-16C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133175757G>A	(Likely) benign	1 lab	c6ed905dcb
16:8941653 PMM2 C>T	16	8941653	8941653	C	T	PMM2	c.712C>T	NM_000303.3	NP_000294.1:p.(Arg238Cys)	NC_000016.9:g.8941653C>T	(Likely) benign	1 lab	c6efe28749
17:48154617 ITGA3 C>A	17	48154617	48154617	C	A	ITGA3	c.2071-126C>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48154617C>A	(Likely) benign	1 lab	c6f0dac275
1:247588450 NLRP3 G>A	1	247588450	247588450	G	A	NLRP3	c.1699G>A	NM_001243133.2	NP_001230062.1:p.(Glu567Lys)	NC_000001.10:g.247588450G>A	(Likely) pathogenic	1 lab	c6f0eda159
9:90588817 CDK20 G>GC	9	90588817	90588824	G	GC	CDK20	c.189+19dup	NM_001039803.2	NP_001034892.1:p.?	NC_000009.11:g.90588824dup	(Likely) benign	1 lab	c6f2b0dcbf
17:73830996 UNC13D C>T	17	73830996	73830996	C	T	UNC13D	c.1992+5G>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73830996C>T	(Likely) benign	1 lab	c6f2e37bea
10:88476134 LDB3 C>CCCTACACCCCCTCCCCTGCCCCTG	10	88476134	88476195	C	CCCTACACCCCCTCCCCTGCCCCTG	LDB3	c.1335_1358dup	NM_001171610.2	NP_001165081.1:p.(Ala447_Pro454dup)	NC_000010.10:g.88476172_88476195dup	(Likely) benign	1 lab	c6f2ea01d0
10:90773127 FAS A>C	10	90773127	90773127	A	C	FAS	c.676+3A>C	NM_000043.4	NP_000034.1:p.?	NC_000010.10:g.90773127A>C	VUS	1 lab	c6f56ebf07
3:77693958 ROBO2 C>T	3	77693958	77693958	C	T	ROBO2	c.4038C>T	NM_002942.5	NP_002933.1:p.(Thr1346=)	NC_000003.11:g.77693958C>T	(Likely) benign	1 lab	c6f694733a
4:20570548 SLIT2 A>G	4	20570548	20570548	A	G	SLIT2	c.3009A>G	NM_004787.4	NP_004778.1:p.(Glu1003=)	NC_000004.11:g.20570548A>G	(Likely) benign	1 lab	c6f6cf2ed6
6:145956591 EPM2A G>A	6	145956591	145956591	G	A	EPM2A	c.508C>T	NM_001018041.2	NP_001018051.1:p.(Pro170Ser)	NC_000006.11:g.145956591G>A	(Likely) pathogenic	1 lab	c6f9832f7b
12:49426753 KMT2D AGTTGCT>A	12	49426753	49426770	AGTTGCT	A	KMT2D	c.11729_11734del	NM_003482.4	NP_003473.3:p.(Gln3910_Gln3911del)	NC_000012.11:g.49426765_49426770del	(Likely) benign	1 lab	c6ff37d417
13:51528127 RNASEH2B T>C	13	51528127	51528127	T	C	RNASEH2B	c.822+6T>C	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51528127T>C	(Likely) benign	1 lab	c701e9355c
9:138606586 KCNT1 T>TGC	9	138606586	138606588	T	TGC	KCNT1	c.254+21_254+22insCG	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138606587_138606588insCG	(Likely) benign	1 lab	d7a1f3fb68
22:51065137 ARSA G>A	22	51065137	51065137	G	A	ARSA	c.736C>T	NM_000487.6	NP_000478.3:p.(Arg246Cys)	NC_000022.10:g.51065137G>A	(Likely) pathogenic	1 lab	c70bfd6c1b
12:88471199 CEP290 A>G	12	88471199	88471199	A	G	CEP290	c.5587-78T>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88471199A>G	(Likely) benign	1 lab	c70cede4ee
8:48736557 PRKDC C>T	8	48736557	48736557	C	T	PRKDC	c.8784G>A	NM_006904.6	NP_008835.5:p.(Lys2928=)	NC_000008.10:g.48736557C>T	(Likely) benign	1 lab	c70d2e6753
16:51173673 SALL1 G>A	16	51173673	51173673	G	A	SALL1	c.2460C>T	NM_002968.2	NP_002959.2:p.(Asp820=)	NC_000016.9:g.51173673G>A	(Likely) benign	1 lab	c7176eabb5
1:183543774 NCF2 G>A	1	183543774	183543774	G	A	NCF2	c.367-18C>T	NM_000433.3	NP_000424.2:p.?	NC_000001.10:g.183543774G>A	(Likely) benign	1 lab	c718295587
12:44166149 IRAK4 A>G	12	44166149	44166149	A	G	IRAK4	c.474A>G	NM_016123.3	NP_057207.2:p.(Leu158=)	NC_000012.11:g.44166149A>G	(Likely) benign	1 lab	c71c89e180
15:48533808 SLC12A1 G>A	15	48533808	48533808	G	A	SLC12A1	c.1300+12G>A	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48533808G>A	(Likely) benign	1 lab	c72332a1c5
9:14851594 FREM1 C>T	9	14851594	14851594	C	T	FREM1	c.840G>A	NM_144966.5	NP_659403.4:p.(Ala280=)	NC_000009.11:g.14851594C>T	(Likely) benign	1 lab	c723ff5bdb
17:41245466 BRCA1 G>C	17	41245466	41245466	G	C	BRCA1	c.2082C>G	NM_007294.3	NP_009225.1:p.(Ser694Arg)	NC_000017.10:g.41245466G>C	(Likely) benign	1 lab	c72430a438
5:65290702 ERBIN T>C	5	65290702	65290702	T	C	ERBIN	c.307+10T>C	NM_001253697.2	NP_001240626.1:p.?	NC_000005.9:g.65290702T>C	(Likely) benign	1 lab	c72dcfa4e1
20:32333057 ZNF341 G>A	20	32333057	32333057	G	A	ZNF341	c.291G>A	NM_032819.4	NP_116208.3:p.(Ser97=)	NC_000020.10:g.32333057G>A	(Likely) benign	1 lab	c72f9e8497
9:382567 DOCK8 C>T	9	382567	382567	C	T	DOCK8	c.2660C>T	NM_203447.3	NP_982272.2:p.(Ser887Leu)	NC_000009.11:g.382567C>T	(Likely) benign	1 lab	c73009e048
14:23872567 MYH6 C>T	14	23872567	23872567	C	T	MYH6	c.888G>A	NM_002471.3	NP_002462.2:p.(Pro296=)	NC_000014.8:g.23872567C>T	(Likely) benign	1 lab	c733383afb
2:179465637 TTN GC>G	2	179465637	179465638	GC	G	TTN	c.55993del	NM_001267550.2	NP_001254479.2:p.(Ala18665GlnfsTer13)	NC_000002.11:g.179465638del	(Likely) pathogenic	1 lab	c7333ccf57
16:29825015 PRRT2 G>C	16	29825015	29825015	G	C	PRRT2	c.640G>C	NM_145239.3	NP_660282.2:p.(Ala214Pro)	NC_000016.9:g.29825015G>C	(Likely) benign	1 lab	d7a64236fb
8:41550682 ANK1 T>G	8	41550682	41550682	T	G	ANK1	c.3570A>C	NM_000037.4	NP_000028.3:p.(Gly1190=)	NC_000008.10:g.41550682T>G	(Likely) benign	1 lab	c73a68f3ee
17:37822103 TCAP AGCTGCCCTACCAGCGGGTACTGCC>A	17	37822103	37822134	AGCTGCCCTACCAGCGGGTACTGCC	A	TCAP	c.253_276del	NM_003673.4	NP_003664.1:p.(Tyr85_Pro92del)	NC_000017.10:g.37822111_37822134del	(Likely) pathogenic	1 lab	c73ae1d638
5:89910061 ADGRV1 G>A	5	89910061	89910061	G	A	ADGRV1	c.23-591G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910061G>A	(Likely) benign	1 lab	c73b7c897a
X:21608758 CNKSR2 C>T	X	21608758	21608758	C	T	CNKSR2	c.1657+20C>T	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21608758C>T	(Likely) benign	1 lab	c73c445274
2:179422459 TTN A>G	2	179422459	179422459	A	G	TTN	c.87622T>C	NM_001267550.2	NP_001254479.2:p.(Tyr29208His)	NC_000002.11:g.179422459A>G	VUS	1 lab	d7a8db18a8
5:161281078 GABRA1 G>C	5	161281078	161281078	G	C	GABRA1	c.75-86G>C	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161281078G>C	(Likely) benign	1 lab	c7416719c6
2:198359384 HSPD1 T>C	2	198359384	198359384	T	C	HSPD1	c.603A>G	NM_002156.5	NP_002147.2:p.(Val201=)	NC_000002.11:g.198359384T>C	(Likely) benign	1 lab	c74537f326
18:43496015 EPG5 G>C	18	43496015	43496015	G	C	EPG5	c.3541C>G	NM_020964.3	NP_066015.2:p.(Gln1181Glu)	NC_000018.9:g.43496015G>C	(Likely) benign	1 lab	c7459ce22f
7:47937636 PKD1L1 G>A	7	47937636	47937636	G	A	PKD1L1	c.2220C>T	NM_138295.5	NP_612152.1:p.(Leu740=)	NC_000007.13:g.47937636G>A	(Likely) benign	1 lab	c745f6e69f
10:101916008 ERLIN1 TAAG>T	10	101916008	101916015	TAAG	T	ERLIN1	c.656-20_656-18del	NM_006459.4	NP_006450.2:p.?	NC_000010.10:g.101916013_101916015del	(Likely) benign	1 lab	c74ca3de47
5:37182935 CPLANE1 G>T	5	37182935	37182935	G	T	CPLANE1	c.5348C>A	NM_023073.3	NP_075561.3:p.(Ala1783Asp)	NC_000005.9:g.37182935G>T	(Likely) pathogenic	1 lab	c74ed23782
8:41548153 ANK1 G>C	8	41548153	41548153	G	C	ANK1	c.3859-36C>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41548153G>C	(Likely) benign	1 lab	c750fae6df
14:24620759 RNF31 C>T	14	24620759	24620759	C	T	RNF31	c.1803C>T	NM_017999.5	NP_060469.4:p.(His601=)	NC_000014.8:g.24620759C>T	(Likely) benign	1 lab	c7618c9bd9
4:39276294 WDR19 T>C	4	39276294	39276294	T	C	WDR19	c.3566-134T>C	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39276294T>C	(Likely) benign	1 lab	c76362c121
15:48766441 FBN1 C>T	15	48766441	48766441	C	T	FBN1	c.4210+11G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48766441C>T	(Likely) benign	1 lab	c763d465df
5:90398017 ADGRV1 CT>C	5	90398017	90398027	CT	C	ADGRV1	c.18311-9del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90398027del	(Likely) benign	1 lab	c76438792a
9:712898 KANK1 C>A	9	712898	712898	C	A	KANK1	c.2132C>A	NM_015158.4	NP_055973.2:p.(Thr711Asn)	NC_000009.11:g.712898C>A	(Likely) benign	1 lab	c76460c446
2:175450263 WIPF1 C>G	2	175450263	175450263	C	G	WIPF1	c.39G>C	NM_001077269.1	NP_001070737.1:p.(Pro13=)	NC_000002.11:g.175450263C>G	VUS	1 lab	c768fbacfe
7:135323351 NUP205 G>T	7	135323351	135323351	G	T	NUP205	c.5312G>T	NM_015135.2	NP_055950.1:p.(Ser1771Ile)	NC_000007.13:g.135323351G>T	(Likely) benign	1 lab	c76cfc247f
19:7712270 STXBP2 G>A	19	7712270	7712270	G	A	STXBP2	c.1602G>A	NM_001272034.2	NP_001258963.1:p.(Lys534=)	NC_000019.9:g.7712270G>A	(Likely) benign	1 lab	c76f12c6c9
1:9780320 PIK3CD C>T	1	9780320	9780320	C	T	PIK3CD	c.1470+20C>T	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9780320C>T	(Likely) benign	1 lab	c76f4836e8
17:61557835 ACE C>T	17	61557835	61557835	C	T	ACE	c.793C>T	NM_000789.4	NP_000780.1:p.(Arg265Ter)	NC_000017.10:g.61557835C>T	(Likely) pathogenic	1 lab	c76fb9ffae
19:36330456 NPHS1 C>G	19	36330456	36330456	C	G	NPHS1	c.2869G>C	NM_004646.3	NP_004637.1:p.(Val957Leu)	NC_000019.9:g.36330456C>G	(Likely) benign	1 lab	c7711e551d
7:106523505 PIK3CG C>T	7	106523505	106523505	C	T	PIK3CG	c.2657C>T	NM_002649.3	NP_002640.2:p.(Thr886Met)	NC_000007.13:g.106523505C>T	(Likely) benign	1 lab	c777717775
6:108395809 OSTM1 G>C	6	108395809	108395809	G	C	OSTM1	c.47C>G	NM_014028.4	NP_054747.2:p.(Pro16Arg)	NC_000006.11:g.108395809G>C	(Likely) benign	1 lab	c77e9d62e8
4:6580124 MAN2B2 G>A	4	6580124	6580124	G	A	MAN2B2	c.290G>A	NM_015274.3	NP_056089.1:p.(Arg97His)	NC_000004.11:g.6580124G>A	(Likely) benign	1 lab	d6a416d832
14:69345260 ACTN1 C>A	14	69345260	69345260	C	A	ACTN1	c.2362-20G>T	NM_001130004.1	NP_001123476.1:p.?	NC_000014.8:g.69345260C>A	(Likely) benign	1 lab	c77eefcd98
8:27324636 CHRNA2 C>T	8	27324636	27324636	C	T	CHRNA2	c.449+110G>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27324636C>T	(Likely) benign	1 lab	c77fd9f853
2:163134770 IFIH1 C>T	2	163134770	163134770	C	T	IFIH1	c.1710G>A	NM_022168.4	NP_071451.2:p.(Met570Ile)	NC_000002.11:g.163134770C>T	(Likely) benign	1 lab	c7822f4754
19:36333109 NPHS1 G>A	19	36333109	36333109	G	A	NPHS1	c.2580C>T	NM_004646.3	NP_004637.1:p.(Thr860=)	NC_000019.9:g.36333109G>A	(Likely) benign	1 lab	c784c6f06a
22:19754072 TBX1 A>C	22	19754072	19754072	A	C	TBX1	c.1170A>C	NM_080647.1	NP_542378.1:p.(Gly390=)	NC_000022.10:g.19754072A>C	(Likely) benign	1 lab	c789fac96d
10:17126252 CUBN T>C	10	17126252	17126252	T	C	CUBN	c.2301+18A>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17126252T>C	(Likely) benign	1 lab	c78ad88285
2:47657030 MSH2 AG>A	2	47657030	47657033	AG	A	MSH2	c.1229del	NM_000251.3	NP_000242.1:p.(Gly410ValfsTer2)	NC_000002.11:g.47657033del	(Likely) pathogenic	1 lab	d7a93683d7
15:93555873 CHD2 T>A	15	93555873	93555873	T	A	CHD2	c.4692+199T>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93555873T>A	(Likely) benign	1 lab	c78f4468c8
14:102496352 DYNC1H1 C>A	14	102496352	102496352	C	A	DYNC1H1	c.9762+77C>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102496352C>A	(Likely) benign	1 lab	c790cd747f
6:32021489 TNXB C>T	6	32021489	32021489	C	T	TNXB	c.8468-7G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32021489C>T	(Likely) benign	1 lab	c7935ab980
21:34923207 SON C>T	21	34923207	34923207	C	T	SON	c.1670C>T	NM_138927.2	NP_620305.2:p.(Ala557Val)	NC_000021.8:g.34923207C>T	(Likely) benign	1 lab	c7940fc602
16:2550508 TBC1D24 G>A	16	2550508	2550508	G	A	TBC1D24	c.1525+17G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2550508G>A	(Likely) benign	1 lab	c7945b4764
6:24302022 DCDC2 T>G	6	24302022	24302022	T	G	DCDC2	c.478A>C	NM_016356.5	NP_057440.2:p.(Arg160=)	NC_000006.11:g.24302022T>G	(Likely) benign	1 lab	c794aff3b1
7:103236987 RELN C>T	7	103236987	103236987	C	T	RELN	c.3455G>A	NM_005045.4	NP_005036.2:p.(Gly1152Asp)	NC_000007.13:g.103236987C>T	VUS	1 lab	d7acbb02f6
12:110032953 MVK G>A	12	110032953	110032953	G	A	MVK	c.1006G>A	NM_000431.2	NP_000422.1:p.(Gly336Ser)	NC_000012.11:g.110032953G>A	(Likely) pathogenic	1 lab	c7b34b9c8a
1:26135244 SELENON C>CA	1	26135244	26135246	C	CA	SELENON	c.611dup	NM_206926.2	NP_996809.1:p.(Asn204_Pro556delinsLysProLeuLeuSerThrAlaAlaGlnGlyGlnGlyGlyHisHisProProAlaProGluHisValProProSerAlaLeuCysGluAspProLeuCysProSerGlySerCysGlyLeuProAspCysHisGlnArgLeuLeuLeuHisCysAspValProAspProCysArgValProAlaGlnSecAlaAlaArgLeuProLeuLeuValLeuProCysSerValHisArgProHisHisProLeuGlnArgArgHisProArgProArgLeuProAlaLeuArgAlaGlnProGlnValSerGluCysGlyHisGlyValAlaLeuArgGlyGlnSecLysGlnGlnHisGlyGlyGlyHisArgLeuHisThrProAspGlyAlaGlyGlyHisGlyProLeuCysAlaLeuArgAspProGlySecGlyTrpGlnHisAspArgGlnProProAlaPheArgGlyAlaProAlaValCysValSecGlyAspGlnValAlaAlaGlyAlaGluLeuGlyGlyGlyCysProAlaProGlyGlyGlyHisValProLeuGlnGluGlyLeuLeuLeuAlaValHisSecGlyLeuArgProSerGlnGlySecGluGlnAlaGlyAlaLeuAsnProAlaValGlyGlyProGlySecProValLeuLeuArgPheArgAlaAspSerProGlyAspCysProGlyLysPheAlaHisProHisProAlaGlnArgGluLeuHisGlnHisLeuValProGlyGluGlyAlaGlyGlyThrAlaGluGlnProGlyGluLeuValProProGluAlaGlyTrpProAlaProGlyGluValGlnLeuProArgGlyAspAspAspLeuProAlaGlnTrpHisArgGlyProSerHisGlnCysGlnLeuLeuLeuGlyHisHisLeuArgGluAlaArgGlyAsnArgGluGlnSerLeuGlnLeuLeuIleHisLeuSecArgProValHisGlyHisLeuHisAlaValProGluGlyGlyThrProAlaTrpProAlaProProProAlaLeuGluCysLeuAspGlyIleSecCysThrGlyProHisAlaSerGluProGluTrpSerSerAlaHisPheArgLeuGlnMetProProThrProThrProLeuLeuGlyCysLeuGlyGlyTyrLysIleHisSecGlyTrpProProGlnProTrpLeuHisGlyGlyGly)	NC_000001.10:g.26135246dup	(Likely) pathogenic	1 lab	c795a54292
18:58039563 MC4R C>T	18	58039563	58039563	C	T	MC4R	c.20G>A	NM_005912.3	NP_005903.2:p.(Arg7His)	NC_000018.9:g.58039563C>T	(Likely) pathogenic	1 lab	c7971170d8
15:99672445 SYNM G>A	15	99672445	99672445	G	A	SYNM	c.3880G>A	NM_145728.2	NP_663780.2:p.(Asp1294Asn)	NC_000015.9:g.99672445G>A	(Likely) benign	1 lab	c797448d21
1:160262003 COPA G>A	1	160262003	160262003	G	A	COPA	c.2961-15C>T	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160262003G>A	(Likely) benign	1 lab	c7a98b0d9c
2:152423951 NEB C>T	2	152423951	152423951	C	T	NEB	c.17887G>A	NM_001271208.1	NP_001258137.1:p.(Val5963Ile)	NC_000002.11:g.152423951C>T	(Likely) benign	1 lab	c7ad356994
4:39241797 WDR19 TAA>T	4	39241797	39241822	TAA	T	WDR19	c.2364-76_2364-75del	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39241821_39241822del	(Likely) benign	1 lab	c7b0a7aaaf
11:117869942 IL10RA G>A	11	117869942	117869942	G	A	IL10RA	c.1323G>A	NM_001558.3	NP_001549.2:p.(Val441=)	NC_000011.9:g.117869942G>A	(Likely) benign	1 lab	c7b71be623
10:21120491 NEBL C>T	10	21120491	21120491	C	T	NEBL	c.1471G>A	NM_006393.2	NP_006384.1:p.(Glu491Lys)	NC_000010.10:g.21120491C>T	VUS	1 lab	c7c57e26cb
1:161518333 FCGR3A A>C	1	161518333	161518333	A	C	FCGR3A	c.512T>G	NM_000569.7	NP_000560.6:p.(Leu171Arg)	NC_000001.10:g.161518333A>C	(Likely) benign	1 lab	c7c5df729a
5:156894097 NIPAL4 G>A	5	156894097	156894097	G	A	NIPAL4	c.318G>A	NM_001099287.2	NP_001092757.2:p.(Trp106Ter)	NC_000005.9:g.156894097G>A	(Likely) pathogenic	1 lab	da4598db05
8:100523793 VPS13B C>T	8	100523793	100523793	C	T	VPS13B	c.4708+53C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100523793C>T	(Likely) benign	1 lab	c7ca983b3b
9:126133797 CRB2 G>T	9	126133797	126133797	G	T	CRB2	c.2376G>T	NM_173689.7	NP_775960.4:p.(Glu792Asp)	NC_000009.11:g.126133797G>T	(Likely) benign	1 lab	c7cafd2af1
1:183559283 NCF2 C>G	1	183559283	183559283	C	G	NCF2	c.174+8G>C	NM_001127651.3	NP_001121123.1:p.?	NC_000001.10:g.183559283C>G	(Likely) benign	1 lab	c7cb481b89
8:17851143 PCM1 T>A	8	17851143	17851143	T	A	PCM1	c.4827+15T>A	NM_006197.4	NP_006188.4:p.?	NC_000008.10:g.17851143T>A	(Likely) benign	1 lab	c7d24d68c0
2:179455160 TTN GCA>G	2	179455160	179455164	GCA	G	TTN	c.61290_61291del	NM_001267550.2	NP_001254479.2:p.(Ala20431LeufsTer2)	NC_000002.11:g.179455163_179455164del	(Likely) pathogenic	1 lab	c7d63f8398
16:56782312 NUP93 G>A	16	56782312	56782312	G	A	NUP93	c.153G>A	NM_014669.5	NP_055484.3:p.(Thr51=)	NC_000016.9:g.56782312G>A	(Likely) benign	1 lab	c7d6ba83b2
3:52486234 TNNC1 GC>G	3	52486234	52486237	GC	G	TNNC1	c.89del	NM_003280.3	NP_003271.1:p.(Gly30AlafsTer15)	NC_000003.11:g.52486237del	VUS	1 lab	c7db643a97
2:197199140 HECW2 G>A	2	197199140	197199140	G	A	HECW2	c.495+8C>T	NM_020760.4	NP_065811.1:p.?	NC_000002.11:g.197199140G>A	(Likely) benign	1 lab	c7e0060604
15:91549612 VPS33B G>C	15	91549612	91549612	G	C	VPS33B	c.842C>G	NM_018668.4	NP_061138.3:p.(Ala281Gly)	NC_000015.9:g.91549612G>C	(Likely) benign	1 lab	c7e1390ae0
1:11860435 MTHFR T>C	1	11860435	11860435	T	C	MTHFR	c.476-56A>G	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11860435T>C	(Likely) benign	1 lab	c7e20d1593
22:36682869 MYH9 G>A	22	36682869	36682869	G	A	MYH9	c.4956C>T	NM_002473.5	NP_002464.1:p.(Arg1652=)	NC_000022.10:g.36682869G>A	(Likely) benign	1 lab	c7e4e21123
14:23856954 MYH6 A>G	14	23856954	23856954	A	G	MYH6	c.4525+13T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23856954A>G	(Likely) benign	1 lab	c7e56f4496
13:111368164 ING1 T>G	13	111368164	111368164	T	G	ING1	c.374=	NM_005537.5	NP_005528.4:p.(Arg125=)	NC_000013.10:g.111368164T>G	(Likely) benign	1 lab	da45d340bb
3:47046664 NBEAL2 GC>G	3	47046664	47046668	GC	G	NBEAL2	c.6420-3del	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47046668del	(Likely) benign	1 lab	c7ee234521
14:91805611 CCDC88C C>T	14	91805611	91805611	C	T	CCDC88C	c.809+11G>A	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91805611C>T	(Likely) benign	1 lab	c7f1dc73a2
4:186429734 PDLIM3 C>T	4	186429734	186429734	C	T	PDLIM3	c.399-18G>A	NM_014476.6	NP_055291.2:p.?	NC_000004.11:g.186429734C>T	(Likely) benign	1 lab	c7f601c25f
2:109352651 RANBP2 T>C	2	109352651	109352651	T	C	RANBP2	c.728T>C	NM_006267.4	NP_006258.3:p.(Met243Thr)	NC_000002.11:g.109352651T>C	(Likely) benign	1 lab	c7f753aa1d
17:8146311 CTC1 G>C	17	8146311	8146311	G	C	CTC1	c.189C>G	NM_025099.6	NP_079375.3:p.(Leu63=)	NC_000017.10:g.8146311G>C	(Likely) benign	1 lab	c7fba389f7
15:73617634 HCN4 C>G	15	73617634	73617634	C	G	HCN4	c.1737+5G>C	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617634C>G	VUS	1 lab	c800743ccb
6:31915874 CFB CCCTG>C	6	31915874	31915878	CCCTG	C	CFB	c.897+17_897+20del	NM_001710.6	NP_001701.2:p.?	NC_000006.11:g.31915875_31915878del	(Likely) benign	1 lab	c8071100f6
16:1256996 CACNA1H C>T	16	1256996	1256996	C	T	CACNA1H	c.2790-5C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1256996C>T	(Likely) benign	1 lab	c809fd5382
16:3293338 MEFV G>T	16	3293338	3293338	G	T	MEFV	c.2149C>A	NM_000243.2	NP_000234.1:p.(Arg717Ser)	NC_000016.9:g.3293338G>T	VUS	1 lab	c80b724bf0
17:78086472 GAA T>C	17	78086472	78086472	T	C	GAA	c.1850T>C	NM_000152.3	NP_000143.2:p.(Val617Ala)	NC_000017.10:g.78086472T>C	VUS	1 lab	c80e770ecc
10:96013928 PLCE1 G>A	10	96013928	96013928	G	A	PLCE1	c.3280-19G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96013928G>A	(Likely) benign	1 lab	c817468d06
1:236918396 ACTN2 C>T	1	236918396	236918396	C	T	ACTN2	c.2052C>T	NM_001103.3	NP_001094.1:p.(Asn684=)	NC_000001.10:g.236918396C>T	(Likely) benign	1 lab	c81dfc9f07
5:94863829 SKIC3 G>A	5	94863829	94863829	G	A	SKIC3	c.1022C>T	NM_014639.3	NP_055454.1:p.(Ala341Val)	NC_000005.9:g.94863829G>A	(Likely) benign	1 lab	c820a9f247
9:99003040 HSD17B3 C>T	9	99003040	99003040	C	T	HSD17B3	c.822G>A	NM_000197.2	NP_000188.1:p.(Leu274=)	NC_000009.11:g.99003040C>T	(Likely) pathogenic	1 lab	c8211d43ff
9:135161766 SETX G>GA	9	135161766	135161779	G	GA	SETX	c.6396+43dup	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135161779dup	(Likely) benign	1 lab	c82321f5ff
10:88469786 LDB3 C>T	10	88469786	88469786	C	T	LDB3	c.1225C>T	NM_001171610.2	NP_001165081.1:p.(Arg409Trp)	NC_000010.10:g.88469786C>T	VUS	1 lab	c824ab743d
5:125891655 ALDH7A1 T>A	5	125891655	125891655	T	A	ALDH7A1	c.1061A>T	NM_001182.5	NP_001173.2:p.(Tyr354Phe)	NC_000005.9:g.125891655T>A	VUS	1 lab	da47d8898c
9:14819420 FREM1 T>C	9	14819420	14819420	T	C	FREM1	c.2358A>G	NM_144966.5	NP_659403.4:p.(Lys786=)	NC_000009.11:g.14819420T>C	(Likely) benign	1 lab	c8265b0b71
14:102485051 DYNC1H1 AT>A	14	102485051	102485055	AT	A	DYNC1H1	c.8343+102del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102485055del	(Likely) benign	1 lab	c82968b2f1
10:112581648 RBM20 G>A	10	112581648	112581648	G	A	RBM20	c.3271G>A	NM_001134363.1	NP_001127835.1:p.(Glu1091Lys)	NC_000010.10:g.112581648G>A	(Likely) benign	1 lab	c82ac4f449
18:67753930 RTTN TAAAAAAAAAAAAAAAA>T	18	67753930	67753969	TAAAAAAAAAAAAAAAA	T	RTTN	c.4303-26_4303-11del	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67753954_67753969del	(Likely) benign	1 lab	c82cac5822
3:38797370 SCN10A T>C	3	38797370	38797370	T	C	SCN10A	c.1370A>G	NM_006514.3	NP_006505.3:p.(Glu457Gly)	NC_000003.11:g.38797370T>C	(Likely) benign	1 lab	c83021acc9
1:235945406 LYST A>G	1	235945406	235945406	A	G	LYST	c.4863-19T>C	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235945406A>G	(Likely) benign	1 lab	c830b5e275
2:179595431 TTN A>T	2	179595431	179595431	A	T	TTN	c.17829T>A	NM_001267550.1	NP_001254479.1:p.(Ala5943=)	NC_000002.11:g.179595431A>T	(Likely) benign	1 lab	c8329bc2c0
10:26991136 PDSS1 A>G	10	26991136	26991136	A	G	PDSS1	c.162+13A>G	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.26991136A>G	(Likely) benign	1 lab	c835c32ab8
10:18828455 CACNB2 C>T	10	18828455	18828455	C	T	CACNB2	c.1620C>T	NM_000724.4	NP_000715.2:p.(His540=)	NC_000010.10:g.18828455C>T	(Likely) benign	1 lab	c836c49c31
7:128484065 FLNC T>A	7	128484065	128484065	T	A	FLNC	c.2937T>A	NM_001458.4	NP_001449.3:p.(Ala979=)	NC_000007.13:g.128484065T>A	(Likely) benign	1 lab	c836f173b2
10:60549620 BICC1 A>G	10	60549620	60549620	A	G	BICC1	c.974A>G	NM_001080512.3	NP_001073981.1:p.(Asn325Ser)	NC_000010.10:g.60549620A>G	(Likely) benign	1 lab	c8386d6f24
19:41198228 COQ8B G>A	19	41198228	41198228	G	A	COQ8B	c.1347C>T	NM_024876.4	NP_079152.3:p.(Phe449=)	NC_000019.9:g.41198228G>A	(Likely) benign	1 lab	c83a590180
7:150642563 KCNH2 C>T	7	150642563	150642563	C	T	KCNH2	c.3370G>A	NM_000238.3	NP_000229.1:p.(Ala1124Thr)	NC_000007.13:g.150642563C>T	VUS	1 lab	c83aa6bc10
2:121708835 GLI2 G>A	2	121708835	121708835	G	A	GLI2	c.271G>A	NM_005270.4	NP_005261.2:p.(Gly91Ser)	NC_000002.11:g.121708835G>A	VUS	1 lab	c843b2917f
2:227919374 COL4A4 C>T	2	227919374	227919374	C	T	COL4A4	c.2796G>A	NM_000092.4	NP_000083.3:p.(Lys932=)	NC_000002.11:g.227919374C>T	(Likely) benign	1 lab	c8472f3ae5
22:19868255 TXNRD2 AG>A	22	19868255	19868261	AG	A	TXNRD2	c.1087-16del	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19868261del	(Likely) benign	1 lab	da48293660
2:228560802 SLC19A3 A>G	2	228560802	228560802	A	G	SLC19A3	c.980-5T>C	NM_025243.4	NP_079519.1:p.?	NC_000002.11:g.228560802A>G	(Likely) benign	1 lab	c84f66aff6
12:32717093 FGD4 C>T	12	32717093	32717093	C	T	FGD4	c.114C>T	NM_001304480.1	NP_001291409.1:p.(Ile38=)	NC_000012.11:g.32717093C>T	(Likely) benign	1 lab	c85c4a9128
15:59465975 MYO1E G>A	15	59465975	59465975	G	A	MYO1E	c.2304C>T	NM_004998.3	NP_004989.2:p.(Asp768=)	NC_000015.9:g.59465975G>A	(Likely) benign	1 lab	c85da941f4
16:56873415 NUP93 G>A	16	56873415	56873415	G	A	NUP93	c.2137-18G>A	NM_014669.5	NP_055484.3:p.?	NC_000016.9:g.56873415G>A	(Likely) pathogenic	1 lab	c85e9ede26
X:44949117 KDM6A T>C	X	44949117	44949117	T	C	KDM6A	c.3834T>C	NM_001291415.1	NP_001278344.1:p.(His1278=)	NC_000023.10:g.44949117T>C	(Likely) benign	1 lab	c85fa6dd6f
5:14498670 TRIO G>A	5	14498670	14498670	G	A	TRIO	c.8253G>A	NM_007118.4	NP_009049.2:p.(Thr2751=)	NC_000005.9:g.14498670G>A	(Likely) benign	1 lab	c861617720
8:17942229 ASAH1 C>T	8	17942229	17942229	C	T	ASAH1	c.82G>A	NM_004315.6	NP_004306.3:p.(Glu28Lys)	NC_000008.10:g.17942229C>T	(Likely) benign	1 lab	c86784ba0c
5:147499947 SPINK5 A>G	5	147499947	147499947	A	G	SPINK5	c.2531A>G	NM_001127698.2	NP_001121170.1:p.(Asp844Gly)	NC_000005.9:g.147499947A>G	(Likely) benign	1 lab	c86e19324a
9:131669494 LRRC8A C>T	9	131669494	131669494	C	T	LRRC8A	c.51C>T	NM_019594.3	NP_062540.2:p.(Tyr17=)	NC_000009.11:g.131669494C>T	(Likely) benign	1 lab	c87137391b
18:52899699 TCF4 A>G	18	52899699	52899699	A	G	TCF4	c.1649+41T>C	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52899699A>G	(Likely) benign	1 lab	c8739fc4eb
3:39230607 XIRP1 C>G	3	39230607	39230607	C	G	XIRP1	c.330G>C	NM_194293.4	NP_919269.2:p.(Glu110Asp)	NC_000003.11:g.39230607C>G	(Likely) benign	1 lab	c879f92c88
9:140002220 MAN1B1 A>G	9	140002220	140002220	A	G	MAN1B1	c.1896+106A>G	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.140002220A>G	(Likely) benign	1 lab	da5083b225
16:23223986 SCNN1G C>T	16	23223986	23223986	C	T	SCNN1G	c.1295-13C>T	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23223986C>T	(Likely) benign	1 lab	c8821c10eb
9:16436324 BNC2 G>T	9	16436324	16436324	G	T	BNC2	c.1868C>A	NM_017637.5	NP_060107.3:p.(Pro623His)	NC_000009.11:g.16436324G>T	(Likely) benign	1 lab	c883645cb8
1:205767070 SLC41A1 C>T	1	205767070	205767070	C	T	SLC41A1	c.954G>A	NM_173854.6	NP_776253.3:p.(Ser318=)	NC_000001.10:g.205767070C>T	(Likely) benign	1 lab	c88b102c70
17:62049219 SCN4A G>A	17	62049219	62049219	G	A	SCN4A	c.483-9C>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62049219G>A	(Likely) benign	1 lab	c88b2dd7a0
X:128691282 OCRL T>C	X	128691282	128691282	T	C	OCRL	c.239-20T>C	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128691282T>C	(Likely) benign	1 lab	c88cb84dbe
1:247588960 NLRP3 G>A	1	247588960	247588960	G	A	NLRP3	c.2150+59G>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247588960G>A	(Likely) benign	1 lab	c89212d489
6:135813405 AHI1 G>T	6	135813405	135813405	G	T	AHI1	c.-30C>A	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135813405G>T	VUS	1 lab	c893517fab
12:110034342 MVK C>T	12	110034342	110034342	C	T	MVK	c.1151C>T	NM_000431.2	NP_000422.1:p.(Ser384Phe)	NC_000012.11:g.110034342C>T	VUS	1 lab	c8936893ee
2:179482064 TTN T>C	2	179482064	179482064	T	C	TTN	c.20928A>G	NM_133432.3	NP_597676.3:p.(Glu6976=)	NC_000002.11:g.179482064T>C	(Likely) benign	1 lab	c8945ec621
16:2152601 PKD1 G>A	16	2152601	2152601	G	A	PKD1	c.8982C>T	NM_001009944.2	NP_001009944.2:p.(Asn2994=)	NC_000016.9:g.2152601G>A	(Likely) benign	1 lab	c8948965d0
10:92678737 ANKRD1 CA>C	10	92678737	92678741	CA	C	ANKRD1	c.346-9del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678741del	(Likely) benign	1 lab	c8969a1785
2:231079732 SP110 T>C	2	231079732	231079732	T	C	SP110	c.249A>G	NM_004509.4	NP_004500.4:p.(Thr83=)	NC_000002.11:g.231079732T>C	(Likely) benign	1 lab	c8998f5dd2
12:103246713 PAH C>T	12	103246713	103246713	C	T	PAH	c.722G>A	NM_000277.3	NP_000268.1:p.(Arg241His)	NC_000012.11:g.103246713C>T	(Likely) pathogenic	1 lab	c8a352538b
5:45645120 HCN1 T>C	5	45645120	45645120	T	C	HCN1	c.849+167A>G	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45645120T>C	(Likely) benign	1 lab	c8a6f20461
1:146751688 CHD1L C>G	1	146751688	146751688	C	G	CHD1L	c.1540-11C>G	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146751688C>G	(Likely) benign	1 lab	c8a834992c
11:64577620 MEN1 G>C	11	64577620	64577620	G	C	MEN1	c.-23-16C>G	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64577620G>C	(Likely) benign	1 lab	c8aacf9f1f
15:59487645 MYO1E G>T	15	59487645	59487645	G	T	MYO1E	c.1805+15C>A	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59487645G>T	(Likely) benign	1 lab	c8ada212d0
1:172635138 FASLG C>T	1	172635138	172635138	C	T	FASLG	c.828C>T	NM_000639.1	NP_000630.1:p.(Phe276=)	NC_000001.10:g.172635138C>T	(Likely) benign	1 lab	c8af64943f
4:79236838 FRAS1 T>C	4	79236838	79236838	T	C	FRAS1	c.1769T>C	NM_025074.7	NP_079350.5:p.(Met590Thr)	NC_000004.11:g.79236838T>C	(Likely) benign	1 lab	c8b753b49a
1:7997784 TNFRSF9 C>T	1	7997784	7997784	C	T	TNFRSF9	c.379G>A	NM_001561.6	NP_001552.2:p.(Asp127Asn)	NC_000001.10:g.7997784C>T	(Likely) benign	1 lab	c8bbc368b0
1:6269363 RNF207 C>T	1	6269363	6269363	C	T	RNF207	c.587C>T	NM_207396.3	NP_997279.2:p.(Ala196Val)	NC_000001.10:g.6269363C>T	VUS	1 lab	c8be80d640
X:48762147 SLC35A2 C>T	X	48762147	48762147	C	T	SLC35A2	c.1123G>A	NM_001282651.2	NP_001269580.1:p.(Ala375Thr)	NC_000023.10:g.48762147C>T	(Likely) benign	1 lab	c8c3a530d5
1:209969866 IRF6 T>C	1	209969866	209969866	T	C	IRF6	c.206A>G	NM_006147.4	NP_006138.1:p.(Glu69Gly)	NC_000001.10:g.209969866T>C	(Likely) pathogenic	1 lab	c8caa905bf
6:157099353 ARID1B C>G	6	157099353	157099353	C	G	ARID1B	c.539C>G	NM_001371656.1	NP_001358585.1:p.(Ala180Gly)	NC_000006.11:g.157099353C>G	VUS	1 lab	da50e0af62
12:110012628 MVK A>C	12	110012628	110012628	A	C	MVK	c.1A>C	NM_000431.2	NP_000422.1:p.(Met1?)	NC_000012.11:g.110012628A>C	(Likely) pathogenic	1 lab	c8cfcb56cb
22:21332187 AIFM3 C>G	22	21332187	21332187	C	G	AIFM3	c.1370C>G	NM_144704.3	NP_653305.1:p.(Thr457Ser)	NC_000022.10:g.21332187C>G	(Likely) benign	1 lab	c8d4689bbf
6:3106044 RIPK1 T>A	6	3106044	3106044	T	A	RIPK1	c.1335T>A	NM_003804.6	NP_003795.2:p.(His445Gln)	NC_000006.11:g.3106044T>A	(Likely) benign	1 lab	c8d5b03926
1:151316161 RFX5 G>A	1	151316161	151316161	G	A	RFX5	c.753C>T	NM_000449.4	NP_000440.1:p.(Leu251=)	NC_000001.10:g.151316161G>A	(Likely) benign	1 lab	da52225ca3
4:158073913 GLRB T>C	4	158073913	158073913	T	C	GLRB	c.948T>C	NM_000824.4	NP_000815.1:p.(Leu316=)	NC_000004.11:g.158073913T>C	(Likely) benign	1 lab	c8dd3fd598
20:57227209 STX16 G>A	20	57227209	57227209	G	A	STX16	c.132+15G>A	NM_001001433.2	NP_001001433.1:p.?	NC_000020.10:g.57227209G>A	(Likely) benign	1 lab	c8def8c8f9
19:1621885 TCF3 C>T	19	1621885	1621885	C	T	TCF3	c.907G>A	NM_003200.5	NP_003191.1:p.(Gly303Ser)	NC_000019.9:g.1621885C>T	(Likely) benign	1 lab	c8e513ff2b
14:65289535 SPTB A>G	14	65289535	65289535	A	G	SPTB	c.148+130T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65289535A>G	(Likely) benign	1 lab	c8ea5435aa
10:131639306 EBF3 T>TCCC	10	131639306	131639315	T	TCCC	EBF3	c.1346-13_1346-11dup	NM_001005463.3	NP_001005463.1:p.?	NC_000010.10:g.131639313_131639315dup	(Likely) benign	1 lab	c8ec2c64a6
17:42337988 SLC4A1 G>C	17	42337988	42337988	G	C	SLC4A1	c.349+15C>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42337988G>C	(Likely) benign	1 lab	c8ec6e425c
17:18151855 FLII A>G	17	18151855	18151855	A	G	FLII	c.2157+9T>C	NM_001256264.2	NP_001243193.1:p.?	NC_000017.10:g.18151855A>G	(Likely) benign	1 lab	c8f149d19c
9:311814 DOCK8 C>G	9	311814	311814	C	G	DOCK8	c.529-140C>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.311814C>G	(Likely) benign	1 lab	c8f78b97e3
5:176942067 DDX41 T>TA	5	176942067	176942068	T	TA	DDX41	c.647dup	NM_016222.4	NP_057306.2:p.(Ser217IlefsTer4)	NC_000005.9:g.176942068dup	(Likely) pathogenic	1 lab	c8fc41333c
22:32222614 DEPDC5 C>T	22	32222614	32222614	C	T	DEPDC5	c.2104+3838C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32222614C>T	(Likely) benign	1 lab	c8fdbd9f0b
5:34935876 DNAJC21 A>G	5	34935876	34935876	A	G	DNAJC21	c.253A>G	NM_001012339.3	NP_001012339.2:p.(Ser85Gly)	NC_000005.9:g.34935876A>G	(Likely) benign	1 lab	c8fe4caa25
4:155510009 FGA C>T	4	155510009	155510009	C	T	FGA	c.300G>A	NM_000508.3	NP_000499.1:p.(Lys100=)	NC_000004.11:g.155510009C>T	(Likely) benign	1 lab	c9016d8abc
X:24906132 POLA1 A>G	X	24906132	24906132	A	G	POLA1	c.4039A>G	NM_016937.4	NP_058633.2:p.(Ile1347Val)	NC_000023.10:g.24906132A>G	(Likely) benign	1 lab	c903afba1e
1:196884290 CFHR4 T>A	1	196884290	196884290	T	A	CFHR4	c.1540+22T>A	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196884290T>A	(Likely) benign	1 lab	c9078d3065
19:50905735 POLD1 C>G	19	50905735	50905735	C	G	POLD1	c.783C>G	NM_002691.4	NP_002682.2:p.(Val261=)	NC_000019.9:g.50905735C>G	(Likely) benign	1 lab	c9093b44d6
4:78979257 FRAS1 C>CGTGTGT	4	78979257	78979274	C	CGTGTGT	FRAS1	c.76+30_76+35dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78979269_78979274dup	(Likely) benign	1 lab	c90e4df753
18:29104436 DSG2 T>G	18	29104436	29104436	T	G	DSG2	c.716T>G	NM_001943.3	NP_001934.2:p.(Val239Gly)	NC_000018.9:g.29104436T>G	VUS	1 lab	c91020db59
16:89808939 FANCA T>C	16	89808939	89808939	T	C	FANCA	c.3765+269A>G	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89808939T>C	(Likely) benign	1 lab	c91278dafe
9:139264827 CARD9 C>T	9	139264827	139264827	C	T	CARD9	c.870G>A	NM_052813.4	NP_434700.2:p.(Ala290=)	NC_000009.11:g.139264827C>T	(Likely) benign	1 lab	c912fe0d13
6:39843236 DAAM2 C>T	6	39843236	39843236	C	T	DAAM2	c.1293C>T	NM_001201427.2	NP_001188356.1:p.(Ile431=)	NC_000006.11:g.39843236C>T	(Likely) benign	1 lab	c9134486a8
17:26732092 MISSING T>A	17	26732092	26732092	T	A	MISSING				NC_000017.10:g.26732092T>A	(Likely) benign	1 lab	c916f75500
19:13325042 CACNA1A C>T	19	13325042	13325042	C	T	CACNA1A	c.5958+5G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325042C>T	VUS	1 lab	c91a45bbca
11:4091240 STIM1 C>G	11	4091240	4091240	C	G	STIM1	c.614-16C>G	NM_001277961.1	NP_001264890.1:p.?	NC_000011.9:g.4091240C>G	(Likely) benign	1 lab	c91c5a2302
X:119670908 CUL4B A>G	X	119670908	119670908	A	G	CUL4B	c.1993-19T>C	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119670908A>G	(Likely) benign	1 lab	c91e7b4cf0
X:84501033 ZNF711 C>T	X	84501033	84501033	C	T	ZNF711	c.-27+5C>T	NM_021998.5	NP_068838.3:p.?	NC_000023.10:g.84501033C>T	(Likely) benign	1 lab	c920c7d251
1:59134719 MYSM1 GA>G	1	59134719	59134727	GA	G	MYSM1	c.1662-10del	NM_001085487.3	NP_001078956.1:p.?	NC_000001.10:g.59134727del	(Likely) benign	1 lab	c9210cba82
7:116409739 MET T>G	7	116409739	116409739	T	G	MET	c.2678T>G	NM_001127500.1	NP_001120972.1:p.(Leu893Ter)	NC_000007.13:g.116409739T>G	VUS	1 lab	c929ff990b
2:166911257 SCN1A A>G	2	166911257	166911257	A	G	SCN1A	c.493T>C	NM_001165963.3	NP_001159435.1:p.(Tyr165His)	NC_000002.11:g.166911257A>G	(Likely) pathogenic	1 lab	c92d033158
20:62073783 KCNQ2 G>A	20	62073783	62073783	G	A	KCNQ2	c.792C>T	NM_172107.4	NP_742105.1:p.(Tyr264=)	NC_000020.10:g.62073783G>A	(Likely) benign	1 lab	c92eda2008
2:179611814 TTN GCTCTAGAGTCTCTCCTGGGGGTGTGGAGTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAATATCT>G	2	179611814	179611916	GCTCTAGAGTCTCTCCTGGGGGTGTGGAGTATCTCTCCAGAGTCTCTCCTGGGGGTGTGGAATATCT	G	TTN	c.11312-5232_11312-5167del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611851_179611916del	(Likely) benign	1 lab	c9317ef7bf
6:33650351 ITPR3 C>T	6	33650351	33650351	C	T	ITPR3	c.4527C>T	NM_002224.3	NP_002215.2:p.(Leu1509=)	NC_000006.11:g.33650351C>T	(Likely) benign	1 lab	c932529be5
8:41577315 ANK1 A>G	8	41577315	41577315	A	G	ANK1	c.971T>C	NM_000037.4	NP_000028.3:p.(Leu324Pro)	NC_000008.10:g.41577315A>G	VUS	1 lab	c93326e90b
9:104133337 BAAT T>C	9	104133337	104133337	T	C	BAAT	c.350A>G	NM_001701.4	NP_001692.1:p.(Lys117Arg)	NC_000009.11:g.104133337T>C	(Likely) benign	1 lab	c93b652d9d
5:149763305 TCOF1 A>G	5	149763305	149763305	A	G	TCOF1	c.2859+4010A>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149763305A>G	(Likely) benign	1 lab	c945bee953
16:30735100 SRCAP C>T	16	30735100	30735100	C	T	SRCAP	c.4355C>T	NM_006662.2	NP_006653.2:p.(Ser1452Leu)	NC_000016.9:g.30735100C>T	(Likely) benign	1 lab	c9484466dc
14:23893302 MYH7 C>A	14	23893302	23893302	C	A	MYH7	c.2736G>T	NM_000257.2	NP_000248.2:p.(Lys912Asn)	NC_000014.8:g.23893302C>A	(Likely) pathogenic	1 lab	c94c5ea6a5
X:119582987 LAMP2 TA>T	X	119582987	119582991	TA	T	LAMP2	c.398-5del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119582991del	VUS	1 lab	c951dac222
9:77362839 TRPM6 A>G	9	77362839	77362839	A	G	TRPM6	c.5058-9T>C	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77362839A>G	(Likely) benign	1 lab	c954afc895
X:122598635 GRIA3 TA>T	X	122598635	122598647	TA	T	GRIA3	c.2077-69del	NM_007325.5	NP_015564.5:p.?	NC_000023.10:g.122598647del	(Likely) benign	1 lab	c955175e69
10:60380596 BICC1 T>C	10	60380596	60380596	T	C	BICC1	c.191-19T>C	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60380596T>C	(Likely) benign	1 lab	c955ac4400
5:128796881 MISSING A>C	5	128796881	128796881	A	C	MISSING				NC_000005.9:g.128796881A>C	(Likely) benign	1 lab	c95b4b1205
9:130578062 ENG C>T	9	130578062	130578062	C	T	ENG	c.1876G>A	NM_001114753.2	NP_001108225.1:p.(Val626Met)	NC_000009.11:g.130578062C>T	VUS	1 lab	c95e7835d4
10:18429769 CACNB2 T>C	10	18429769	18429769	T	C	CACNB2	c.104T>C	NM_201596.3	NP_963890.2:p.(Leu35Pro)	NC_000010.10:g.18429769T>C	VUS	1 lab	c9679c93a0
8:100844569 VPS13B AT>A	8	100844569	100844594	AT	A	VPS13B	c.9331-3del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100844594del	(Likely) benign	1 lab	c96d2b7803
10:124758094 IKZF5 C>G	10	124758094	124758094	C	G	IKZF5	c.48G>C	NM_001372127.1	NP_001359056.1:p.(Gln16His)	NC_000010.10:g.124758094C>G	VUS	1 lab	c96e88162a
2:11955322 LPIN1 G>C	2	11955322	11955322	G	C	LPIN1	c.2250G>C	NM_145693.4	NP_663731.1:p.(Gly750=)	NC_000002.11:g.11955322G>C	(Likely) benign	1 lab	c971e2f5b7
2:179397662 TTN C>G	2	179397662	179397662	C	G	TTN	c.76860G>C	NM_133432.3	NP_597676.3:p.(Lys25620Asn)	NC_000002.11:g.179397662C>G	VUS	1 lab	c97351c6dd
18:10704497 PIEZO2 G>A	18	10704497	10704497	G	A	PIEZO2	c.5814C>T	NM_022068.3	NP_071351.2:p.(Ala1938=)	NC_000018.9:g.10704497G>A	(Likely) benign	1 lab	c977d245e2
6:7579711 DSP T>C	6	7579711	7579711	T	C	DSP	c.3288T>C	NM_004415.2	NP_004406.2:p.(Asn1096=)	NC_000006.11:g.7579711T>C	(Likely) benign	1 lab	c97af1f051
2:227946858 COL4A4 C>A	2	227946858	227946858	C	A	COL4A4	c.1669G>T	NM_000092.4	NP_000083.3:p.(Gly557Cys)	NC_000002.11:g.227946858C>A	(Likely) pathogenic	1 lab	c97bc166b4
4:79442734 FRAS1 G>A	4	79442734	79442734	G	A	FRAS1	c.10598G>A	NM_025074.7	NP_079350.5:p.(Arg3533Gln)	NC_000004.11:g.79442734G>A	(Likely) benign	1 lab	c985e8e48f
16:89597367 SPG7 T>C	16	89597367	89597367	T	C	SPG7	c.987+151T>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89597367T>C	(Likely) benign	1 lab	c986f2bff3
15:58001245 POLR2M A>G	15	58001245	58001245	A	G	POLR2M	c.447A>G	NM_015532.5	NP_056347.1:p.(Thr149=)	NC_000015.9:g.58001245A>G	(Likely) benign	1 lab	c987422f47
4:2833200 SH3BP2 C>T	4	2833200	2833200	C	T	SH3BP2	c.1326-98C>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2833200C>T	(Likely) benign	1 lab	ce4c718e0b
6:32805439 TAP2 C>A	6	32805439	32805439	C	A	TAP2	c.494-11G>T	NM_018833.2	NP_061313.2:p.?	NC_000006.11:g.32805439C>A	(Likely) benign	1 lab	c992202886
12:22048209 ABCC9 A>G	12	22048209	22048209	A	G	ABCC9	c.1659T>C	NM_020297.2	NP_064693.2:p.(Ala553=)	NC_000012.11:g.22048209A>G	VUS	1 lab	c99a60debb
5:37209540 CPLANE1 G>A	5	37209540	37209540	G	A	CPLANE1	c.2921-3013C>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37209540G>A	(Likely) benign	1 lab	c99cb70f4f
4:9892350 SLC2A9 A>AAG	4	9892350	9892364	A	AAG	SLC2A9	c.1114-17_1114-16dup	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9892363_9892364dup	(Likely) benign	1 lab	c99ff6da4b
3:189587274 TP63 A>G	3	189587274	189587274	A	G	TP63	c.1212+79A>G	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189587274A>G	(Likely) benign	1 lab	c9a3a69867
14:102452889 DYNC1H1 C>T	14	102452889	102452889	C	T	DYNC1H1	c.2327C>T	NM_001376.4	NP_001367.2:p.(Pro776Leu)	NC_000014.8:g.102452889C>T	(Likely) pathogenic	1 lab	c9a48ee0d3
15:85189452 WDR73 G>A	15	85189452	85189452	G	A	WDR73				NC_000015.9:g.85189452G>A	(Likely) benign	1 lab	c9a5ba3752
X:99926044 SRPX2 G>A	X	99926044	99926044	G	A	SRPX2	c.*60G>A	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99926044G>A	(Likely) benign	1 lab	c9a92690ee
19:13319958 CACNA1A G>A	19	13319958	13319958	G	A	CACNA1A	c.6545-135C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13319958G>A	(Likely) benign	1 lab	c9ad690ed3
4:6588837 MAN2B2 A>G	4	6588837	6588837	A	G	MAN2B2	c.506A>G	NM_015274.3	NP_056089.1:p.(Asn169Ser)	NC_000004.11:g.6588837A>G	(Likely) benign	1 lab	c9add30d5c
9:111911927 FRRS1L C>T	9	111911927	111911927	C	T	FRRS1L	c.465G>A	NM_014334.3	NP_055149.2:p.(Lys155=)	NC_000009.11:g.111911927C>T	(Likely) benign	1 lab	c9b5a66c97
1:154542641 CHRNB2 C>A	1	154542641	154542641	C	A	CHRNB2	c.256-93C>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154542641C>A	(Likely) benign	1 lab	c9b967b472
4:79176325 FRAS1 C>T	4	79176325	79176325	C	T	FRAS1	c.470-71C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79176325C>T	(Likely) benign	1 lab	c9b96eaac6
1:247587813 NLRP3 G>T	1	247587813	247587813	G	T	NLRP3	c.1062G>T	NM_001243133.2	NP_001230062.1:p.(Glu354Asp)	NC_000001.10:g.247587813G>T	(Likely) pathogenic	1 lab	c9bb381ee2
16:75589834 TMEM231 C>G	16	75589834	75589834	C	G	TMEM231	c.336G>C	NM_001077416.2	NP_001070884.2:p.(Pro112=)	NC_000016.9:g.75589834C>G	(Likely) benign	1 lab	c9bc6ee821
2:47202095 TTC7A C>T	2	47202095	47202095	C	T	TTC7A	c.518-17C>T	NM_001288951.2	NP_001275880.1:p.?	NC_000002.11:g.47202095C>T	(Likely) benign	1 lab	c9bddb7e9b
8:144990403 PLEC C>T	8	144990403	144990403	C	T	PLEC	c.13667G>A	NM_000445.5	NP_000436.2:p.(Arg4556His)	NC_000008.10:g.144990403C>T	VUS	1 lab	d7b5d2a2ed
X:134948023 CT45A5 T>C	X	134948023	134948023	T	C	CT45A5				NC_000023.10:g.134948023T>C	(Likely) benign	1 lab	c9c35c8625
22:17670939 ADA2 G>A	22	17670939	17670939	G	A	ADA2	c.882-17C>T	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17670939G>A	(Likely) benign	1 lab	c9c3fe693d
5:169412879 DOCK2 G>A	5	169412879	169412879	G	A	DOCK2	c.2946G>A	NM_004946.3	NP_004937.1:p.(Lys982=)	NC_000005.9:g.169412879G>A	(Likely) benign	1 lab	c9cb70089a
9:138651597 KCNT1 C>G	9	138651597	138651597	C	G	KCNT1	c.927C>G	NM_020822.2	NP_065873.2:p.(Ile309Met)	NC_000009.11:g.138651597C>G	(Likely) benign	1 lab	c9ce5fdd0c
16:4847841 ROGDI G>A	16	4847841	4847841	G	A	ROGDI	c.696C>T	NM_024589.2	NP_078865.1:p.(Phe232=)	NC_000016.9:g.4847841G>A	(Likely) benign	1 lab	c9d50786ad
18:48439333 ME2 TA>T	18	48439333	48439341	TA	T	ME2	c.392+21del	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48439341del	(Likely) benign	1 lab	c9daaca6be
2:213872645 IKZF2 C>T	2	213872645	213872645	C	T	IKZF2	c.942G>A	NM_001079526.2	NP_001072994.1:p.(Pro314=)	NC_000002.11:g.213872645C>T	(Likely) benign	1 lab	c9dab7c6a2
2:179595632 TTN TG>T	2	179595632	179595633	TG	T	TTN	c.17740+19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595633del	(Likely) benign	1 lab	c9de2bb4c1
12:49445978 KMT2D C>T	12	49445978	49445978	C	T	KMT2D	c.1488G>A	NM_003482.3	NP_003473.3:p.(Pro496=)	NC_000012.11:g.49445978C>T	(Likely) benign	1 lab	c9e211da32
1:206944233 IL10 A>G	1	206944233	206944233	A	G	IL10	c.378+19T>C	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944233A>G	(Likely) benign	1 lab	c9e6956706
1:247587450 NLRP3 G>A	1	247587450	247587450	G	A	NLRP3	c.699G>A	NM_001243133.2	NP_001230062.1:p.(Leu233=)	NC_000001.10:g.247587450G>A	(Likely) benign	1 lab	c9ee53406d
19:11624708 ECSIT C>T	19	11624708	11624708	C	T	ECSIT	c.425G>A	NM_016581.5	NP_057665.2:p.(Arg142Gln)	NC_000019.9:g.11624708C>T	(Likely) benign	1 lab	d7b9bb792d
6:97730434 MMS22L TGG>T	6	97730434	97730447	TGG	T	MMS22L	c.-76-7_-76-6del	NM_001350599.2	NP_001337528.1:p.?	NC_000006.11:g.97730446_97730447del	(Likely) benign	1 lab	c9f23d0c56
20:23618427 CST3 C>T	20	23618427	23618427	C	T	CST3	c.73G>A	NM_001288614.2	NP_001275543.1:p.(Ala25Thr)	NC_000020.10:g.23618427C>T	(Likely) benign	1 lab	c9f286918d
14:65261215 SPTB C>T	14	65261215	65261215	C	T	SPTB	c.1765G>A	NM_001024858.3	NP_001020029.1:p.(Ala589Thr)	NC_000014.8:g.65261215C>T	(Likely) benign	1 lab	c9f53ef044
2:220348877 SPEG C>A	2	220348877	220348877	C	A	SPEG	c.6692C>A	NM_005876.5	NP_005867.3:p.(Pro2231His)	NC_000002.11:g.220348877C>A	(Likely) benign	1 lab	c9f59e7a66
9:6551009 GLDC A>C	9	6551009	6551009	A	C	GLDC	c.2458-95T>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6551009A>C	(Likely) benign	1 lab	c9f72e8d60
5:65371007 ERBIN T>C	5	65371007	65371007	T	C	ERBIN	c.3912T>C	NM_001253697.2	NP_001240626.1:p.(Tyr1304=)	NC_000005.9:g.65371007T>C	(Likely) benign	1 lab	c9f97e1105
16:3299421 MEFV G>A	16	3299421	3299421	G	A	MEFV	c.1260+10C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299421G>A	(Likely) benign	1 lab	c9f98598f5
10:13228178 MCM10 C>T	10	13228178	13228178	C	T	MCM10	c.1116C>T	NM_182751.3	NP_877428.1:p.(Ile372=)	NC_000010.10:g.13228178C>T	(Likely) benign	1 lab	c9fd54d080
4:38022219 TBC1D1 G>A	4	38022219	38022219	G	A	TBC1D1	c.980G>A	NM_015173.4	NP_055988.2:p.(Arg327Lys)	NC_000004.11:g.38022219G>A	(Likely) benign	1 lab	ca04b46334
1:43906266 SZT2 A>G	1	43906266	43906266	A	G	SZT2	c.7173+9A>G	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43906266A>G	(Likely) benign	1 lab	ca0eecdac7
9:127262605 NR5A1 C>T	9	127262605	127262605	C	T	NR5A1	c.634G>A	NM_004959.5	NP_004950.2:p.(Gly212Ser)	NC_000009.11:g.127262605C>T	VUS	1 lab	ca11694486
7:77807187 MAGI2 GA>G	7	77807187	77807197	GA	G	MAGI2	c.2403+140del	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77807197del	(Likely) benign	1 lab	ca1789cc4a
1:62732457 KANK4 G>T	1	62732457	62732457	G	T	KANK4	c.2266C>A	NM_181712.5	NP_859063.3:p.(Arg756=)	NC_000001.10:g.62732457G>T	(Likely) benign	1 lab	ca19e2b4ab
5:161524670 GABRG2 G>A	5	161524670	161524670	G	A	GABRG2	c.354G>A	NM_198903.2	NP_944493.2:p.(Ala118=)	NC_000005.9:g.161524670G>A	(Likely) benign	1 lab	ca1be7f123
9:14823139 FREM1 T>C	9	14823139	14823139	T	C	FREM1	c.2337+19A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14823139T>C	(Likely) benign	1 lab	ca1ed9cd28
2:232087474 ARMC9 A>G	2	232087474	232087474	A	G	ARMC9	c.538A>G	NM_025139.6	NP_079415.4:p.(Ile180Val)	NC_000002.11:g.232087474A>G	(Likely) benign	1 lab	ca206c16ea
X:41412957 CASK C>T	X	41412957	41412957	C	T	CASK	c.2039+15G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41412957C>T	(Likely) benign	1 lab	ca21da57d7
8:13259100 DLC1 C>T	8	13259100	13259100	C	T	DLC1	c.1052G>A	NM_182643.3	NP_872584.2:p.(Arg351Gln)	NC_000008.10:g.13259100C>T	(Likely) benign	1 lab	ca22a95a7e
12:14941872 WBP11 T>C	12	14941872	14941872	T	C	WBP11	c.1492+13A>G	NM_016312.3	NP_057396.1:p.?	NC_000012.11:g.14941872T>C	(Likely) benign	1 lab	ca22e82d4c
17:73832375 UNC13D A>G	17	73832375	73832375	A	G	UNC13D	c.1390-38T>C	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73832375A>G	(Likely) benign	1 lab	d72e5144a3
X:30738213 GK G>A	X	30738213	30738213	G	A	GK	c.1236+1G>A	NM_001205019.1	NP_001191948.1:p.?	NC_000023.10:g.30738213G>A	VUS	1 lab	cafc4c03d0
7:94034542 COL1A2 A>C	7	94034542	94034542	A	C	COL1A2	c.464A>C	NM_000089.3	NP_000080.2:p.(Glu155Ala)	NC_000007.13:g.94034542A>C	VUS	1 lab	ca257adf8e
2:27672160 IFT172 C>G	2	27672160	27672160	C	G	IFT172	c.4311+1G>C	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27672160C>G	(Likely) pathogenic	1 lab	ca2de07158
3:148459309 AGTR1 G>A	3	148459309	148459309	G	A	AGTR1	c.487G>A	NM_000685.4	NP_000676.1:p.(Ala163Thr)	NC_000003.11:g.148459309G>A	(Likely) benign	1 lab	ca300c9cc5
6:47547070 CD2AP T>TA	6	47547070	47547084	T	TA	CD2AP	c.904-37dup	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47547084dup	(Likely) benign	1 lab	ca323a5a7b
17:73208170 NUP85 T>TGC	17	73208170	73208175	T	TGC	NUP85	c.361+17_361+18dup	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73208174_73208175dup	(Likely) benign	1 lab	ca36d13370
3:45812898 SLC6A20 A>G	3	45812898	45812898	A	G	SLC6A20	c.746T>C	NM_020208.4	NP_064593.1:p.(Phe249Ser)	NC_000003.11:g.45812898A>G	(Likely) benign	1 lab	ca37b2736a
3:189607319 TP63 G>A	3	189607319	189607319	G	A	TP63	c.1652+46G>A	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189607319G>A	(Likely) benign	1 lab	ca385b6e38
5:94852739 SKIC3 T>A	5	94852739	94852739	T	A	SKIC3	c.2317A>T	NM_014639.3	NP_055454.1:p.(Met773Leu)	NC_000005.9:g.94852739T>A	(Likely) benign	1 lab	ca3a8f329e
9:711112 KANK1 A>G	9	711112	711112	A	G	KANK1	c.346A>G	NM_015158.4	NP_055973.2:p.(Thr116Ala)	NC_000009.11:g.711112A>G	(Likely) benign	1 lab	d808ff3ea1
6:32944023 BRD2 C>G	6	32944023	32944023	C	G	BRD2	c.611-4C>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32944023C>G	(Likely) benign	1 lab	ca3d53fc37
2:228029487 COL4A3 G>A	2	228029487	228029487	G	A	COL4A3	c.45G>A	NM_000091.4	NP_000082.2:p.(Pro15=)	NC_000002.11:g.228029487G>A	(Likely) benign	1 lab	ca3ee436c8
6:32130320 PPT2 A>G	6	32130320	32130320	A	G	PPT2	c.729-25A>G	NM_138717.3	NP_619731.2:p.?	NC_000006.11:g.32130320A>G	(Likely) benign	1 lab	ca42230976
1:228509109 OBSCN G>A	1	228509109	228509109	G	A	OBSCN	c.17438G>A	NM_001271223.2	NP_001258152.2:p.(Arg5813His)	NC_000001.10:g.228509109G>A	(Likely) benign	1 lab	ca43e7db70
13:32970031 BRCA2 T>C	13	32970031	32970031	T	C	BRCA2	c.9501+961T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32970031T>C	(Likely) benign	1 lab	ca4b415b64
3:38591900 SCN5A A>C	3	38591900	38591900	A	C	SCN5A	c.5963T>G	NM_001099404.2	NP_001092874.1:p.(Leu1988Arg)	NC_000003.11:g.38591900A>C	VUS	1 lab	d7c0ae66d0
5:147498531 SPINK5 C>T	5	147498531	147498531	C	T	SPINK5	c.2241-18C>T	NM_006846.3	NP_006837.2:p.?	NC_000005.9:g.147498531C>T	(Likely) benign	1 lab	ca53105813
20:8720021 PLCB1 G>C	20	8720021	8720021	G	C	PLCB1	c.2308+14G>C	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8720021G>C	(Likely) benign	1 lab	ca53b54ae6
22:36712730 MYH9 G>A	22	36712730	36712730	G	A	MYH9	c.1228-16C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36712730G>A	(Likely) benign	1 lab	ca59709369
16:3293454 MEFV C>T	16	3293454	3293454	C	T	MEFV	c.2033G>A	NM_000243.2	NP_000234.1:p.(Gly678Glu)	NC_000016.9:g.3293454C>T	VUS	1 lab	ca5ca61ee8
15:42127106 JMJD7-PLA2G4B G>C	15	42127106	42127106	G	C	JMJD7-PLA2G4B	c.218+15G>C	NM_005090.3	NP_005081.1:p.?	NC_000015.9:g.42127106G>C	(Likely) benign	1 lab	ca5d5f57a3
11:9838546 SBF2 G>A	11	9838546	9838546	G	A	SBF2	c.3819C>T	NM_030962.3	NP_112224.1:p.(Ser1273=)	NC_000011.9:g.9838546G>A	(Likely) benign	1 lab	ca6437feed
6:32798417 TAP2 C>T	6	32798417	32798417	C	T	TAP2	c.1439G>A	NM_001290043.2	NP_001276972.1:p.(Arg480His)	NC_000006.11:g.32798417C>T	VUS	1 lab	d7c177d871
10:72358775 PRF1 C>T	10	72358775	72358775	C	T	PRF1	c.702G>A	NM_001083116.1	NP_001076585.1:p.(Ser234=)	NC_000010.10:g.72358775C>T	(Likely) benign	1 lab	ca6f8fa6c5
4:149357458 NR3C2 G>A	4	149357458	149357458	G	A	NR3C2	c.555C>T	NM_000901.5	NP_000892.2:p.(Ile185=)	NC_000004.11:g.149357458G>A	(Likely) benign	1 lab	ca706a2351
22:36681919 MYH9 G>A	22	36681919	36681919	G	A	MYH9	c.5142C>T	NM_002473.5	NP_002464.1:p.(Ser1714=)	NC_000022.10:g.36681919G>A	(Likely) benign	1 lab	ca797ee504
4:128858661 MFSD8 T>G	4	128858661	128858661	T	G	MFSD8	c.754+1277A>C	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128858661T>G	(Likely) benign	1 lab	ca7a89cf90
3:164766816 SI C>A	3	164766816	164766816	C	A	SI	c.1715+99G>T	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164766816C>A	(Likely) benign	1 lab	ca7c5fdc9e
1:247587802 NLRP3 G>C	1	247587802	247587802	G	C	NLRP3	c.1051G>C	NM_001243133.2	NP_001230062.1:p.(Val351Leu)	NC_000001.10:g.247587802G>C	VUS	1 lab	ca81e7636d
14:64473884 SYNE2 A>G	14	64473884	64473884	A	G	SYNE2	c.4521A>G	NM_182914.2	NP_878918.2:p.(Gln1507=)	NC_000014.8:g.64473884A>G	(Likely) benign	1 lab	ca88820342
4:2814216 SH3BP2 G>A	4	2814216	2814216	G	A	SH3BP2	c.80+12G>A	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2814216G>A	(Likely) benign	1 lab	ca8e5ef210
3:77617517 ROBO2 G>A	3	77617517	77617517	G	A	ROBO2	c.1903G>A	NM_002942.5	NP_002933.1:p.(Gly635Arg)	NC_000003.11:g.77617517G>A	VUS	1 lab	ca8feed9dc
2:168101223 XIRP2 T>G	2	168101223	168101223	T	G	XIRP2	c.3321T>G	NM_152381.6	NP_689594.4:p.(Tyr1107Ter)	NC_000002.11:g.168101223T>G	(Likely) pathogenic	1 lab	ca90271cb5
5:90020671 ADGRV1 C>T	5	90020671	90020671	C	T	ADGRV1	c.9771C>T	NM_032119.4	NP_115495.3:p.(Ser3257=)	NC_000005.9:g.90020671C>T	(Likely) benign	1 lab	ca969e4c10
7:128484692 FLNC C>A	7	128484692	128484692	C	A	FLNC	c.3193-20C>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128484692C>A	VUS	1 lab	ca97104b7a
7:158486086 NCAPG2 A>G	7	158486086	158486086	A	G	NCAPG2	c.182T>C	NM_017760.7	NP_060230.5:p.(Val61Ala)	NC_000007.13:g.158486086A>G	(Likely) benign	1 lab	ca9acf2f7a
6:32808805 PSMB8 A>G	6	32808805	32808805	A	G	PSMB8	c.750T>C	NM_004159.5	NP_004150.1:p.(Asp250=)	NC_000006.11:g.32808805A>G	(Likely) benign	1 lab	ca9cfe2b0c
4:38051421 TBC1D1 C>T	4	38051421	38051421	C	T	TBC1D1	c.1812C>T	NM_015173.4	NP_055988.2:p.(Cys604=)	NC_000004.11:g.38051421C>T	(Likely) benign	1 lab	caa007248a
11:65310670 LTBP3 T>C	11	65310670	65310670	T	C	LTBP3	c.2502A>G	NM_001130144.2	NP_001123616.1:p.(Ala834=)	NC_000011.9:g.65310670T>C	(Likely) benign	1 lab	caa231cc9a
12:69082824 NUP107 A>G	12	69082824	69082824	A	G	NUP107	c.91A>G	NM_020401.4	NP_065134.1:p.(Arg31Gly)	NC_000012.11:g.69082824A>G	(Likely) benign	1 lab	caa4e22b89
1:43395093 SLC2A1 A>C	1	43395093	43395093	A	C	SLC2A1	c.868-108T>G	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43395093A>C	(Likely) benign	1 lab	caa57557f9
19:54327568 NLRP12 A>T	19	54327568	54327568	A	T	NLRP12	c.-140T>A	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54327568A>T	(Likely) benign	1 lab	caa71de868
10:43609950 RET C>G	10	43609950	43609950	C	G	RET	c.1902C>G	NM_020975.4	NP_066124.1:p.(Cys634Trp)	NC_000010.10:g.43609950C>G	(Likely) pathogenic	1 lab	caa76f306e
8:41547683 ANK1 T>C	8	41547683	41547683	T	C	ANK1	c.4227+62A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41547683T>C	(Likely) benign	1 lab	caa7eb4a95
5:37115116 CPLANE1 C>T	5	37115116	37115116	C	T	CPLANE1	c.9184G>A	NM_023073.3	NP_075561.3:p.(Gly3062Arg)	NC_000005.9:g.37115116C>T	(Likely) benign	1 lab	cab2c8d329
5:77511978 AP3B1 T>C	5	77511978	77511978	T	C	AP3B1	c.687A>G	NM_003664.4	NP_003655.3:p.(Leu229=)	NC_000005.9:g.77511978T>C	(Likely) benign	1 lab	d87f33c618
X:12939398 TLR8 C>T	X	12939398	12939398	C	T	TLR8	c.2239C>T	NM_138636.5	NP_619542.1:p.(Leu747=)	NC_000023.10:g.12939398C>T	(Likely) benign	1 lab	cadd0a8e76
3:64666931 ADAMTS9 G>A	3	64666931	64666931	G	A	ADAMTS9	c.625C>T	NM_182920.2	NP_891550.1:p.(Arg209Cys)	NC_000003.11:g.64666931G>A	(Likely) benign	1 lab	cab6ca3e2c
17:39780583 KRT17 C>G	17	39780583	39780583	C	G	KRT17	c.179G>C	NM_000422.3	NP_000413.1:p.(Cys60Ser)	NC_000017.10:g.39780583C>G	(Likely) benign	1 lab	d7c755a2b4
1:6267523 RNF207 C>T	1	6267523	6267523	C	T	RNF207	c.276C>T	NM_207396.3	NP_997279.2:p.(Gly92=)	NC_000001.10:g.6267523C>T	(Likely) benign	1 lab	cab8c2375e
4:79399154 FRAS1 CAAG>C	4	79399154	79399161	CAAG	C	FRAS1	c.8042_8044del	NM_025074.7	NP_079350.5:p.(Lys2681del)	NC_000004.11:g.79399159_79399161del	VUS	1 lab	cabaaa940b
6:33408918 SYNGAP1 A>G	6	33408918	33408918	A	G	SYNGAP1	c.1914-32A>G	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33408918A>G	(Likely) benign	1 lab	cabc1f0e9f
8:17872133 PCM1 T>G	8	17872133	17872133	T	G	PCM1	c.5625T>G	NM_006197.4	NP_006188.4:p.(Asn1875Lys)	NC_000008.10:g.17872133T>G	(Likely) benign	1 lab	cabee0d6e8
1:247588066 NLRP3 G>A	1	247588066	247588066	G	A	NLRP3	c.1315G>A	NM_001243133.2	NP_001230062.1:p.(Ala439Thr)	NC_000001.10:g.247588066G>A	(Likely) pathogenic	1 lab	cacfb41dc5
15:29561323 NSMCE3 G>C	15	29561323	29561323	G	C	NSMCE3	c.587C>G	NM_138704.4	NP_619649.1:p.(Thr196Ser)	NC_000015.9:g.29561323G>C	(Likely) benign	1 lab	cad1f57f50
1:183559371 NCF2 C>T	1	183559371	183559371	C	T	NCF2	c.94G>A	NM_000433.3	NP_000424.2:p.(Val32Ile)	NC_000001.10:g.183559371C>T	(Likely) benign	1 lab	cad2073267
2:166170111 SCN2A T>G	2	166170111	166170111	T	G	SCN2A	c.1035-19T>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166170111T>G	(Likely) benign	1 lab	cad2c0024a
3:13670566 FBLN2 C>T	3	13670566	13670566	C	T	FBLN2	c.2713+18C>T	NM_001004019.2	NP_001004019.1:p.?	NC_000003.11:g.13670566C>T	(Likely) benign	1 lab	cad7c2c859
6:33406893 SYNGAP1 GA>G	6	33406893	33406895	GA	G	SYNGAP1	c.1676+199del	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33406895del	(Likely) benign	1 lab	cadb43aedd
12:58025813 B4GALNT1 G>C	12	58025813	58025813	G	C	B4GALNT1	c.103C>G	NM_001478.4	NP_001469.1:p.(Leu35Val)	NC_000012.11:g.58025813G>C	(Likely) benign	1 lab	cae63c3900
2:179411759 TTN G>A	2	179411759	179411759	G	A	TTN	c.67673C>T	NM_133432.3	NP_597676.3:p.(Ser22558Leu)	NC_000002.11:g.179411759G>A	VUS	1 lab	cae71aaead
X:79282255 TBX22 A>T	X	79282255	79282255	A	T	TBX22	c.686A>T	NM_001109878.2	NP_001103348.1:p.(Gln229Leu)	NC_000023.10:g.79282255A>T	VUS	1 lab	cae82ea5f3
19:35530641 SCN1B G>A	19	35530641	35530641	G	A	SCN1B	c.*5+31G>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530641G>A	(Likely) benign	1 lab	caebb5ec51
4:128842876 MFSD8 C>G	4	128842876	128842876	C	G	MFSD8	c.1153G>C	NM_152778.3	NP_689991.1:p.(Gly385Arg)	NC_000004.11:g.128842876C>G	(Likely) benign	1 lab	caf3cdd28f
8:48845745 PRKDC A>G	8	48845745	48845745	A	G	PRKDC	c.1624-13T>C	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48845745A>G	(Likely) benign	1 lab	caf49f18dc
19:13372293 CACNA1A G>A	19	13372293	13372293	G	A	CACNA1A	c.4233C>T	NM_023035.3	NP_075461.2:p.(Asp1411=)	NC_000019.9:g.13372293G>A	(Likely) benign	1 lab	caf87b704c
14:65241906 SPTB T>C	14	65241906	65241906	T	C	SPTB	c.4779A>G	NM_001024858.3	NP_001020029.1:p.(Ala1593=)	NC_000014.8:g.65241906T>C	(Likely) benign	1 lab	caf99e8794
18:19321604 MIB1 C>T	18	19321604	19321604	C	T	MIB1	c.60C>T	NM_020774.3	NP_065825.1:p.(Arg20=)	NC_000018.9:g.19321604C>T	(Likely) benign	1 lab	cafeb69ae8
11:20621128 SLC6A5 A>G	11	20621128	20621128	A	G	SLC6A5				NC_000011.9:g.20621128A>G	(Likely) benign	1 lab	cb01772a44
5:76028164 F2R A>G	5	76028164	76028164	A	G	F2R	c.114A>G	NM_001992.5	NP_001983.2:p.(Leu38=)	NC_000005.9:g.76028164A>G	(Likely) benign	1 lab	cb043157b6
8:100709538 VPS13B G>A	8	100709538	100709538	G	A	VPS13B	c.6122-2215G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100709538G>A	(Likely) benign	1 lab	cb0697b7ee
7:143020649 CLCN1 G>A	7	143020649	143020649	G	A	CLCN1	c.774+170G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143020649G>A	(Likely) benign	1 lab	cb0740297d
12:110032987 MVK G>T	12	110032987	110032987	G	T	MVK	c.1039+1G>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110032987G>T	(Likely) pathogenic	1 lab	cb0a6c4689
12:110618251 IFT81 C>T	12	110618251	110618251	C	T	IFT81	c.1213C>T	NM_014055.4	NP_054774.2:p.(Arg405Ter)	NC_000012.11:g.110618251C>T	(Likely) pathogenic	1 lab	cb0e4a38f1
2:152830169 CACNB4 A>G	2	152830169	152830169	A	G	CACNB4	c.45+14T>C	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152830169A>G	(Likely) benign	1 lab	cb0fd81636
16:3304699 MEFV G>T	16	3304699	3304699	G	T	MEFV	c.369C>A	NM_000243.2	NP_000234.1:p.(His123Gln)	NC_000016.9:g.3304699G>T	VUS	1 lab	cb1274cb8a
6:112454643 LAMA4 T>C	6	112454643	112454643	T	C	LAMA4	c.3604A>G	NM_001105206.3	NP_001098676.2:p.(Met1202Val)	NC_000006.11:g.112454643T>C	(Likely) benign	1 lab	cb12ab22b5
3:87322572 POU1F1 T>A	3	87322572	87322572	T	A	POU1F1	c.217A>T	NM_001122757.3	NP_001116229.1:p.(Thr73Ser)	NC_000003.11:g.87322572T>A	(Likely) benign	1 lab	cb15b4482a
8:145009038 PLEC C>T	8	145009038	145009038	C	T	PLEC	c.1296G>A	NM_201380.4	NP_958782.1:p.(Met432Ile)	NC_000008.10:g.145009038C>T	(Likely) benign	1 lab	d7c9bac5e5
14:23866200 MYH6 G>A	14	23866200	23866200	G	A	MYH6	c.2140C>T	NM_002471.3	NP_002462.2:p.(Arg714Cys)	NC_000014.8:g.23866200G>A	VUS	1 lab	cb1a5f8d05
5:161322666 GABRA1 T>G	5	161322666	161322666	T	G	GABRA1	c.857-6T>G	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161322666T>G	(Likely) benign	1 lab	cb24870d6a
1:43891629 SZT2 G>A	1	43891629	43891629	G	A	SZT2	c.2929+9G>A	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43891629G>A	(Likely) benign	1 lab	cb2a712540
10:95549971 LGI1 G>C	10	95549971	95549971	G	C	LGI1	c.503+44G>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95549971G>C	(Likely) benign	1 lab	cb2b763407
15:93484927 CHD2 G>T	15	93484927	93484927	G	T	CHD2	c.693-125G>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93484927G>T	(Likely) benign	1 lab	cb2c65363a
12:52309891 ACVRL1 C>T	12	52309891	52309891	C	T	ACVRL1	c.1120C>T	NM_000020.2	NP_000011.2:p.(Arg374Trp)	NC_000012.11:g.52309891C>T	VUS	1 lab	cb2d3a0e8d
13:73491253 PIBF1 A>G	13	73491253	73491253	A	G	PIBF1	c.1679A>G	NM_006346.3	NP_006337.2:p.(Tyr560Cys)	NC_000013.10:g.73491253A>G	(Likely) benign	1 lab	cb2f2f30fa
16:64982695 CDH11 G>A	16	64982695	64982695	G	A	CDH11	c.1895-5C>T	NM_001308392.2	NP_001295321.1:p.?	NC_000016.9:g.64982695G>A	(Likely) benign	1 lab	d7cc189e47
19:11304737 KANK2 C>T	19	11304737	11304737	C	T	KANK2	c.38-19G>A	NM_001136191.2	NP_001129663.1:p.?	NC_000019.9:g.11304737C>T	(Likely) benign	1 lab	cb32fa525c
7:155592795 SHH AGCAACCACCAT>A	7	155592795	155592809	AGCAACCACCAT	A	SHH	c.435_445del	NM_001310462.2	NP_001297391.1:p.(Trp146AlafsTer7)	NC_000007.13:g.155592799_155592809del	VUS	1 lab	d7cdb32530
11:62406494 GANAB C>T	11	62406494	62406494	C	T	GANAB	c.341G>A	NM_198335.4	NP_938149.2:p.(Arg114His)	NC_000011.9:g.62406494C>T	(Likely) benign	1 lab	cb3586c67f
12:110034335 MVK G>C	12	110034335	110034335	G	C	MVK	c.1144G>C	NM_000431.2	NP_000422.1:p.(Ala382Pro)	NC_000012.11:g.110034335G>C	VUS	1 lab	cb368527a4
15:63353955 TPM1 A>G	15	63353955	63353955	A	G	TPM1	c.607A>G	NM_001018004.2	NP_001018004.1:p.(Asn203Asp)	NC_000015.9:g.63353955A>G	(Likely) pathogenic	1 lab	cb38cb75cb
16:9928166 GRIN2A T>C	16	9928166	9928166	T	C	GRIN2A	c.1652-79A>G	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9928166T>C	(Likely) benign	1 lab	cb3a8fa0cd
2:227915822 COL4A4 G>T	2	227915822	227915822	G	T	COL4A4	c.3021C>A	NM_000092.4	NP_000083.3:p.(Tyr1007Ter)	NC_000002.11:g.227915822G>T	(Likely) pathogenic	1 lab	cb3d1c940c
X:135095627 SLC9A6 C>A	X	135095627	135095627	C	A	SLC9A6	c.1236+31C>A	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135095627C>A	(Likely) benign	1 lab	cb40b6cc20
16:3714438 TRAP1 C>T	16	3714438	3714438	C	T	TRAP1	c.1406G>A	NM_016292.3	NP_057376.2:p.(Arg469His)	NC_000016.9:g.3714438C>T	(Likely) benign	1 lab	cb342bf501
19:54318224 NLRP12 G>A	19	54318224	54318224	G	A	NLRP12	c.308C>T	NM_144687.4	NP_653288.1:p.(Pro103Leu)	NC_000019.9:g.54318224G>A	(Likely) benign	1 lab	cb4371fee5
15:85197437 WDR73 TCCCATGTCCCA>T	15	85197437	85197448	TCCCATGTCCCA	T	WDR73	c.41+17_41+27del	NM_032856.5	NP_116245.2:p.?	NC_000015.9:g.85197438_85197448del	(Likely) benign	1 lab	cb4417ea05
3:196214250 RNF168 C>T	3	196214250	196214250	C	T	RNF168	c.558+20G>A	NM_152617.3	NP_689830.2:p.?	NC_000003.11:g.196214250C>T	(Likely) benign	1 lab	cb47c0c5e8
16:4847825 ROGDI G>A	16	4847825	4847825	G	A	ROGDI	c.712C>T	NM_024589.3	NP_078865.1:p.(Arg238Cys)	NC_000016.9:g.4847825G>A	VUS	1 lab	d7cef9c154
9:108358939 FKTN G>T	9	108358939	108358939	G	T	FKTN	c.-350+1G>T	NM_001351502.2	NP_001338431.1:p.?	NC_000009.11:g.108358939G>T	(Likely) pathogenic	1 lab	cb505dd70b
17:41244589 BRCA1 T>A	17	41244589	41244589	T	A	BRCA1	c.2959A>T	NM_007294.3	NP_009225.1:p.(Lys987Ter)	NC_000017.10:g.41244589T>A	(Likely) pathogenic	1 lab	cb52b05e69
12:6928075 CD4 T>C	12	6928075	6928075	T	C	CD4	c.804T>C	NM_001195014.3	NP_001181943.1:p.(Cys268=)	NC_000012.11:g.6928075T>C	(Likely) benign	1 lab	d7d43db4d3
17:61897778 FTSJ3 T>A	17	61897778	61897778	T	A	FTSJ3	c.2093A>T	NM_017647.4	NP_060117.3:p.(Glu698Val)	NC_000017.10:g.61897778T>A	VUS	1 lab	d7d46c90e6
10:88476354 LDB3 C>T	10	88476354	88476354	C	T	LDB3	c.1517C>T	NM_001171610.2	NP_001165081.1:p.(Ala506Val)	NC_000010.10:g.88476354C>T	VUS	1 lab	cb5555583b
7:138440415 ATP6V0A4 G>A	7	138440415	138440415	G	A	ATP6V0A4	c.816+19C>T	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138440415G>A	(Likely) benign	1 lab	cb5c524902
8:41519248 ANK1 T>C	8	41519248	41519248	T	C	ANK1	c.5667+146A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41519248T>C	(Likely) benign	1 lab	cb6652d136
7:128483349 FLNC G>A	7	128483349	128483349	G	A	FLNC	c.2617G>A	NM_001458.4	NP_001449.3:p.(Glu873Lys)	NC_000007.13:g.128483349G>A	(Likely) benign	1 lab	cb6b04bfff
5:140963678 DIAPH1 TC>T	5	140963678	140963681	TC	T	DIAPH1	c.402+12del	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140963681del	(Likely) benign	1 lab	cb6c11a3a5
17:8138503 CTC1 C>T	17	8138503	8138503	C	T	CTC1	c.1307G>A	NM_025099.6	NP_079375.3:p.(Arg436His)	NC_000017.10:g.8138503C>T	(Likely) benign	1 lab	da224a45d1
1:116280896 CASQ2 T>C	1	116280896	116280896	T	C	CASQ2	c.481A>G	NM_001232.3	NP_001223.2:p.(Ile161Val)	NC_000001.10:g.116280896T>C	(Likely) benign	1 lab	cb6de0ea6c
7:91874914 KRIT1 C>A	7	91874914	91874914	C	A	KRIT1	c.-589-5G>T	NM_194456.1	NP_919438.1:p.?	NC_000007.13:g.91874914C>A	(Likely) benign	1 lab	cb72e61118
1:5939837 NPHP4 G>A	1	5939837	5939837	G	A	NPHP4	c.2611+337C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5939837G>A	(Likely) benign	1 lab	cb766baacc
1:160011618 KCNJ10 A>G	1	160011618	160011618	A	G	KCNJ10	c.705T>C	NM_002241.5	NP_002232.2:p.(Asn235=)	NC_000001.10:g.160011618A>G	(Likely) benign	1 lab	cb76a74c98
2:169869965 ABCB11 G>A	2	169869965	169869965	G	A	ABCB11	c.206C>T	NM_003742.4	NP_003733.2:p.(Ala69Val)	NC_000002.11:g.169869965G>A	VUS	1 lab	cb773f164b
16:1257334 CACNA1H C>T	16	1257334	1257334	C	T	CACNA1H	c.2967C>T	NM_021098.3	NP_066921.2:p.(Ser989=)	NC_000016.9:g.1257334C>T	(Likely) benign	1 lab	cb78dcd168
1:198711166 PTPRC C>T	1	198711166	198711166	C	T	PTPRC	c.2561+11C>T	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198711166C>T	(Likely) benign	1 lab	cb80dc4852
17:19554855 ALDH3A2 A>G	17	19554855	19554855	A	G	ALDH3A2	c.154-5A>G	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19554855A>G	(Likely) benign	1 lab	d7d9f4cf37
4:79391327 FRAS1 T>C	4	79391327	79391327	T	C	FRAS1	c.7371+82T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391327T>C	(Likely) benign	1 lab	cba39441e3
2:166226554 SCN2A T>C	2	166226554	166226554	T	C	SCN2A	c.3676-82T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166226554T>C	(Likely) benign	1 lab	cb8ca8686f
16:774906 CCDC78 C>T	16	774906	774906	C	T	CCDC78	c.639+5G>A	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.774906C>T	VUS	1 lab	d7e01e0b35
6:49578958 RHAG A>G	6	49578958	49578958	A	G	RHAG	c.946-100T>C	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49578958A>G	(Likely) benign	1 lab	cb92ff31cb
1:164769139 PBX1 T>G	1	164769139	164769139	T	G	PBX1	c.701+13T>G	NM_002585.3	NP_002576.1:p.?	NC_000001.10:g.164769139T>G	(Likely) benign	1 lab	cb9380758c
2:227920706 COL4A4 C>T	2	227920706	227920706	C	T	COL4A4	c.2671G>A	NM_000092.4	NP_000083.3:p.(Gly891Ser)	NC_000002.11:g.227920706C>T	(Likely) pathogenic	1 lab	cb959285fa
16:3724504 TRAP1 G>A	16	3724504	3724504	G	A	TRAP1	c.889-9C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3724504G>A	(Likely) benign	1 lab	cb960659c1
1:1475087 TMEM240 G>A	1	1475087	1475087	G	A	TMEM240	c.141C>T	NM_001114748.2	NP_001108220.1:p.(Arg47=)	NC_000001.10:g.1475087G>A	(Likely) benign	1 lab	d7ead66b68
1:228559967 OBSCN C>T	1	228559967	228559967	C	T	OBSCN	c.21488C>T	NM_001098623.2	NP_001092093.2:p.(Pro7163Leu)	NC_000001.10:g.228559967C>T	(Likely) benign	1 lab	cb9642cb63
18:29125689 DSG2 G>A	18	29125689	29125689	G	A	DSG2	c.2340G>A	NM_001943.3	NP_001934.2:p.(Ala780=)	NC_000018.9:g.29125689G>A	(Likely) benign	1 lab	cb98ef980a
10:78779030 KCNMA1 T>C	10	78779030	78779030	T	C	KCNMA1	c.1941-173A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78779030T>C	(Likely) benign	1 lab	cb99348ac9
14:59113348 DACT1 T>G	14	59113348	59113348	T	G	DACT1	c.2007T>G	NM_016651.6	NP_057735.2:p.(Pro669=)	NC_000014.8:g.59113348T>G	(Likely) benign	1 lab	cb9a1f937f
X:48933578 WDR45 C>A	X	48933578	48933578	C	A	WDR45	c.466G>T	NM_007075.3	NP_009006.2:p.(Glu156Ter)	NC_000023.10:g.48933578C>A	(Likely) pathogenic	1 lab	cb9d294a9d
10:18828378 CACNB2 C>G	10	18828378	18828378	C	G	CACNB2	c.1624C>G	NM_201571.4	NP_963865.2:p.(Pro542Ala)	NC_000010.10:g.18828378C>G	(Likely) benign	1 lab	cba68c1806
4:79391159 FRAS1 C>T	4	79391159	79391159	C	T	FRAS1	c.7285C>T	NM_025074.7	NP_079350.5:p.(Arg2429Ter)	NC_000004.11:g.79391159C>T	(Likely) pathogenic	1 lab	cba901b213
9:27029017 IFT74 CAACAGGTT>C	9	27029017	27029030	CAACAGGTT	C	IFT74	c.975_982del	NM_025103.4	NP_079379.2:p.(Leu326TyrfsTer10)	NC_000009.11:g.27029023_27029030del	(Likely) pathogenic	1 lab	cbad73773c
5:148422079 SH3TC2 G>A	5	148422079	148422079	G	A	SH3TC2	c.529+178C>T	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148422079G>A	(Likely) benign	1 lab	cbae2972cc
9:126125319 CRB2 C>T	9	126125319	126125319	C	T	CRB2	c.270C>T	NM_173689.7	NP_775960.4:p.(Thr90=)	NC_000009.11:g.126125319C>T	(Likely) benign	1 lab	cbaf25838d
11:47869510 NUP160 C>T	11	47869510	47869510	C	T	NUP160	c.204G>A	NM_015231.2	NP_056046.1:p.(Gly68=)	NC_000011.9:g.47869510C>T	(Likely) benign	1 lab	cbaf81257c
15:91544712 VPS33B C>G	15	91544712	91544712	C	G	VPS33B	c.1406-20G>C	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91544712C>G	(Likely) benign	1 lab	cbb650a61e
11:46916315 LRP4 T>C	11	46916315	46916315	T	C	LRP4	c.1365A>G	NM_002334.3	NP_002325.2:p.(Pro455=)	NC_000011.9:g.46916315T>C	(Likely) benign	1 lab	cbb6bb6655
1:226128627 LEFTY2 G>A	1	226128627	226128627	G	A	LEFTY2	c.214C>T	NM_003240.5	NP_003231.2:p.(Arg72Cys)	NC_000001.10:g.226128627G>A	(Likely) benign	1 lab	cbb953f74a
20:36374862 CTNNBL1 C>T	20	36374862	36374862	C	T	CTNNBL1	c.246-8C>T	NM_001281495.1	NP_001268424.1:p.?	NC_000020.10:g.36374862C>T	(Likely) benign	1 lab	cbbab71274
11:125761378 HYLS1 G>A	11	125761378	125761378	G	A	HYLS1	c.-81+11G>A	NM_145014.2	NP_659451.1:p.?	NC_000011.9:g.125761378G>A	(Likely) benign	1 lab	cbc835daa1
1:160162694 CASQ1 A>T	1	160162694	160162694	A	T	CASQ1	c.364+18A>T	NM_001231.5	NP_001222.3:p.?	NC_000001.10:g.160162694A>T	(Likely) benign	1 lab	cbc95bdb6c
2:175547493 WIPF1 G>T	2	175547493	175547493	G	T	WIPF1	c.-39+9C>A	NM_001077269.1	NP_001070737.1:p.?	NC_000002.11:g.175547493G>T	(Likely) benign	1 lab	cbc98a6ffd
1:185270555 IVNS1ABP C>T	1	185270555	185270555	C	T	IVNS1ABP	c.895+11G>A	NM_006469.5	NP_006460.2:p.?	NC_000001.10:g.185270555C>T	(Likely) benign	1 lab	cbcbc18f01
9:126132785 CRB2 G>C	9	126132785	126132785	G	C	CRB2	c.1453G>C	NM_173689.7	NP_775960.4:p.(Glu485Gln)	NC_000009.11:g.126132785G>C	(Likely) benign	1 lab	cbcf34bc62
8:48872611 PRKDC C>T	8	48872611	48872611	C	T	PRKDC	c.76G>A	NM_006904.6	NP_008835.5:p.(Gly26Ser)	NC_000008.10:g.48872611C>T	(Likely) benign	1 lab	cbd4f137ba
8:144995012 PLEC C>T	8	144995012	144995012	C	T	PLEC	c.9388G>A	NM_201380.4	NP_958782.1:p.(Asp3130Asn)	NC_000008.10:g.144995012C>T	(Likely) benign	1 lab	cbd6aebad2
9:14801644 FREM1 C>T	9	14801644	14801644	C	T	FREM1	c.3694+6G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14801644C>T	(Likely) benign	1 lab	cbd7fed139
9:124089638 GSN C>T	9	124089638	124089638	C	T	GSN	c.1793C>T	NM_000177.5	NP_000168.1:p.(Thr598Ile)	NC_000009.11:g.124089638C>T	VUS	1 lab	cbdc201afa
19:35521846 SCN1B G>C	19	35521846	35521846	G	C	SCN1B	c.40+82G>C	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35521846G>C	VUS	1 lab	cbe099e38b
7:73449751 ELN T>G	7	73449751	73449751	T	G	ELN	c.133+7T>G	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73449751T>G	(Likely) benign	1 lab	cbe404d5de
1:11297883 MTOR G>A	1	11297883	11297883	G	A	MTOR	c.2208+17C>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11297883G>A	(Likely) benign	1 lab	cbe7086382
1:160105250 ATP1A2 C>T	1	160105250	160105250	C	T	ATP1A2				NC_000001.10:g.160105250C>T	(Likely) benign	1 lab	cbe75e7713
4:120107109 MYOZ2 A>T	4	120107109	120107109	A	T	MYOZ2	c.561-12A>T	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107109A>T	(Likely) benign	1 lab	cbe999c3e3
2:231077112 SP110 G>A	2	231077112	231077112	G	A	SP110	c.617C>T	NM_004509.4	NP_004500.4:p.(Ala206Val)	NC_000002.11:g.231077112G>A	(Likely) benign	1 lab	cbef8c55d9
2:189932764 COL5A2 G>A	2	189932764	189932764	G	A	COL5A2	c.1378C>T	NM_000393.5	NP_000384.2:p.(Pro460Ser)	NC_000002.11:g.189932764G>A	(Likely) benign	1 lab	cbf6de5c85
3:192445251 FGF12 A>ATT	3	192445251	192445270	A	ATT	FGF12	c.-131+20_-131+21dup	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192445269_192445270dup	(Likely) benign	1 lab	cbf7e42a9f
2:152830110 CACNB4 C>CG	2	152830110	152830117	C	CG	CACNB4	c.45+72dup	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152830117dup	(Likely) benign	1 lab	cbf952b9a7
20:60900388 LAMA5 C>T	20	60900388	60900388	C	T	LAMA5	c.5513G>A	NM_005560.4	NP_005551.3:p.(Arg1838Gln)	NC_000020.10:g.60900388C>T	(Likely) benign	1 lab	cbff41633b
9:133556992 PRDM12 TCGCCGCCGCCGCCGC>T	9	133556992	133557028	TCGCCGCCGCCGCCGC	T	PRDM12	c.1062_1076del	NM_021619.3	NP_067632.2:p.(Ala355_Ala359del)	NC_000009.11:g.133557014_133557028del	(Likely) benign	1 lab	cc05cca69f
1:228412228 OBSCN G>A	1	228412228	228412228	G	A	OBSCN	c.2722G>A	NM_052843.4	NP_443075.3:p.(Ala908Thr)	NC_000001.10:g.228412228G>A	(Likely) benign	1 lab	d7f4c06846
20:50408673 SALL4 C>T	20	50408673	50408673	C	T	SALL4	c.349G>A	NM_020436.3	NP_065169.1:p.(Gly117Arg)	NC_000020.10:g.50408673C>T	(Likely) benign	1 lab	cc0a23eaf1
2:228128562 COL4A3 G>A	2	228128562	228128562	G	A	COL4A3	c.1217G>A	NM_000091.4	NP_000082.2:p.(Arg406Gln)	NC_000002.11:g.228128562G>A	(Likely) benign	1 lab	cc0abf115b
16:3304725 MEFV G>T	16	3304725	3304725	G	T	MEFV	c.343C>A	NM_000243.2	NP_000234.1:p.(Pro115Thr)	NC_000016.9:g.3304725G>T	VUS	1 lab	cc0c67f4b4
5:10258527 CCT5 C>T	5	10258527	10258527	C	T	CCT5	c.753C>T	NM_012073.3	NP_036205.1:p.(Leu251=)	NC_000005.9:g.10258527C>T	(Likely) benign	1 lab	cc14338840
3:49161376 LAMB2 G>A	3	49161376	49161376	G	A	LAMB2	c.3582C>T	NM_002292.4	NP_002283.3:p.(Phe1194=)	NC_000003.11:g.49161376G>A	(Likely) benign	1 lab	cc17d6bf0f
17:45006872 GOSR2 T>C	17	45006872	45006872	T	C	GOSR2	c.30-14T>C	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45006872T>C	(Likely) benign	1 lab	cc1f6ac59a
1:237924230 RYR2 GT>G	1	237924230	237924239	GT	G	RYR2	c.11403-16del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237924239del	(Likely) benign	1 lab	cc20edb038
2:233348215 ECEL1 G>A	2	233348215	233348215	G	A	ECEL1	c.1417C>T	NM_004826.4	NP_004817.2:p.(Leu473=)	NC_000002.11:g.233348215G>A	(Likely) benign	1 lab	cc28d150b6
11:2417840 CD81 G>T	11	2417840	2417840	G	T	CD81	c.562-18G>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2417840G>T	(Likely) benign	1 lab	cc29b3e097
13:32913305 BRCA2 G>A	13	32913305	32913305	G	A	BRCA2	c.4813G>A	NM_000059.3	NP_000050.2:p.(Val1605Ile)	NC_000013.10:g.32913305G>A	(Likely) benign	1 lab	cc32cc1d2e
14:89343847 TTC8 G>A	14	89343847	89343847	G	A	TTC8	n.1728G>A	NR_159362.2		NC_000014.8:g.89343847G>A	(Likely) benign	1 lab	cc336f6a4b
2:231037540 SP110 C>T	2	231037540	231037540	C	T	SP110	c.1706+20G>A	NM_080424.2	NP_536349.2:p.?	NC_000002.11:g.231037540C>T	(Likely) benign	1 lab	cc3859980c
13:39432172 FREM2 T>C	13	39432172	39432172	T	C	FREM2	c.7215+2T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39432172T>C	(Likely) pathogenic	1 lab	cc3a3d6ce6
4:120079233 MYOZ2 G>A	4	120079233	120079233	G	A	MYOZ2	c.303G>A	NM_016599.4	NP_057683.1:p.(Ser101=)	NC_000004.11:g.120079233G>A	(Likely) benign	1 lab	cc3f2e8aa1
15:48722895 FBN1 G>A	15	48722895	48722895	G	A	FBN1	c.6844C>T	NM_000138.4	NP_000129.3:p.(Arg2282Trp)	NC_000015.9:g.48722895G>A	VUS	1 lab	cc3fb00114
X:154176038 F8 T>C	X	154176038	154176038	T	C	F8	c.2048A>G	NM_000132.3	NP_000123.1:p.(Tyr683Cys)	NC_000023.10:g.154176038T>C	(Likely) pathogenic	1 lab	cc46247c36
11:32450244 WT1 C>CG	11	32450244	32450252	C	CG	WT1	c.647-80dup	NM_024426.3	NP_077744.3:p.?	NC_000011.9:g.32450252dup	(Likely) benign	1 lab	cc482d3748
1:160321656 NCSTN G>A	1	160321656	160321656	G	A	NCSTN	c.843+61G>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160321656G>A	(Likely) benign	1 lab	cc4bd356a4
1:196920123 CFHR2 G>A	1	196920123	196920123	G	A	CFHR2	c.395G>A	NM_005666.4	NP_005657.1:p.(Arg132Gln)	NC_000001.10:g.196920123G>A	(Likely) benign	1 lab	cc4cc2c676
13:52542641 ATP7B A>G	13	52542641	52542641	A	G	ATP7B	c.1646T>C	NM_000053.4	NP_000044.2:p.(Leu549Pro)	NC_000013.10:g.52542641A>G	(Likely) pathogenic	1 lab	cc4dd078cb
10:75238352 PPP3CB C>A	10	75238352	75238352	C	A	PPP3CB	c.316G>T	NM_001142353.2	NP_001135825.1:p.(Asp106Tyr)	NC_000010.10:g.75238352C>A	(Likely) pathogenic	1 lab	cc51bbf559
1:236030138 LYST T>G	1	236030138	236030138	T	G	LYST	c.-98+5A>C	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.236030138T>G	(Likely) benign	1 lab	cc522c6d20
19:54310827 NLRP12 C>T	19	54310827	54310827	C	T	NLRP12	c.2165G>A	NM_144687.4	NP_653288.1:p.(Arg722Gln)	NC_000019.9:g.54310827C>T	(Likely) benign	1 lab	cc524b9b11
15:26812569 GABRB3 G>A	15	26812569	26812569	G	A	GABRB3	c.835+159C>T	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26812569G>A	(Likely) benign	1 lab	cc5264c771
1:237919418 RYR2 A>C	1	237919418	237919418	A	C	RYR2	c.11146-170A>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237919418A>C	(Likely) benign	1 lab	cc5ae68bbf
7:143043890 CLCN1 A>G	7	143043890	143043890	A	G	CLCN1	c.2365-114A>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043890A>G	(Likely) benign	1 lab	cc5b01fb18
8:42186655 IKBKB G>A	8	42186655	42186655	G	A	IKBKB	c.2128G>A	NM_001556.3	NP_001547.1:p.(Ala710Thr)	NC_000008.10:g.42186655G>A	(Likely) benign	1 lab	cc5d404cc6
12:110012685 MVK C>A	12	110012685	110012685	C	A	MVK	c.58C>A	NM_000431.2	NP_000422.1:p.(His20Asn)	NC_000012.11:g.110012685C>A	(Likely) pathogenic	1 lab	cc618e6862
9:131395568 SPTAN1 C>T	9	131395568	131395568	C	T	SPTAN1	c.7389C>T	NM_001130438.2	NP_001123910.1:p.(Thr2463=)	NC_000009.11:g.131395568C>T	(Likely) benign	1 lab	cc61966f3e
19:42373302 RPS19 G>C	19	42373302	42373302	G	C	RPS19	c.356+18G>C	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42373302G>C	(Likely) benign	1 lab	cc65944e33
15:42953372 STARD9 A>G	15	42953372	42953372	A	G	STARD9	c.719A>G	NM_020759.3	NP_065810.2:p.(Asn240Ser)	NC_000015.9:g.42953372A>G	(Likely) benign	1 lab	cc65d9fd33
X:18956809 PHKA2 C>T	X	18956809	18956809	C	T	PHKA2	c.977G>A	NM_000292.3	NP_000283.1:p.(Cys326Tyr)	NC_000023.10:g.18956809C>T	(Likely) pathogenic	1 lab	cc66b78ffb
2:170371224 KLHL41 A>G	2	170371224	170371224	A	G	KLHL41	c.1251A>G	NM_006063.3	NP_006054.2:p.(Val417=)	NC_000002.11:g.170371224A>G	(Likely) benign	1 lab	cc68a3536e
14:37145415 PAX9 C>G	14	37145415	37145415	C	G	PAX9	c.784C>G	NM_006194.3	NP_006185.1:p.(Leu262Val)	NC_000014.8:g.37145415C>G	VUS	1 lab	cc6ee89f79
2:227872139 COL4A4 A>G	2	227872139	227872139	A	G	COL4A4	c.4975T>C	NM_000092.4	NP_000083.3:p.(Leu1659=)	NC_000002.11:g.227872139A>G	(Likely) benign	1 lab	cc6ee8eaa8
17:78091201 GAA A>T	17	78091201	78091201	A	T	GAA	c.2332-198A>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78091201A>T	(Likely) benign	1 lab	cc78cb3bc6
2:166187782 SCN2A A>T	2	166187782	166187782	A	T	SCN2A	c.2150-58A>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166187782A>T	(Likely) benign	1 lab	ccc7088aaa
X:62863636 ARHGEF9 C>T	X	62863636	62863636	C	T	ARHGEF9	c.1369+224G>A	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62863636C>T	(Likely) benign	1 lab	cc7c0a44a3
10:92678737 ANKRD1 CAAAATA>C	10	92678737	92678745	CAAAATA	C	ANKRD1	c.346-14_346-9del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678740_92678745del	(Likely) benign	1 lab	cc856181f7
12:6442626 TNFRSF1A A>G	12	6442626	6442626	A	G	TNFRSF1A	c.379T>C	NM_001065.3	NP_001056.1:p.(Cys127Arg)	NC_000012.11:g.6442626A>G	(Likely) pathogenic	1 lab	cc85de3d8c
20:30409452 MYLK2 T>C	20	30409452	30409452	T	C	MYLK2	c.684T>C	NM_033118.3	NP_149109.1:p.(Ile228=)	NC_000020.10:g.30409452T>C	(Likely) benign	1 lab	cc87032cb9
1:7998764 TNFRSF9 TATCTTTGAACTC>T	1	7998764	7998778	TATCTTTGAACTC	T	TNFRSF9	c.208+5_208+16del	NM_001561.6	NP_001552.2:p.?	NC_000001.10:g.7998767_7998778del	(Likely) benign	1 lab	cc87f3b435
14:76446962 TGFB3 G>T	14	76446962	76446962	G	T	TGFB3	c.275C>A	NM_003239.2	NP_003230.1:p.(Thr92Asn)	NC_000014.8:g.76446962G>T	VUS	1 lab	cc8b0c0a9b
16:3304380 MEFV C>T	16	3304380	3304380	C	T	MEFV	c.688G>A	NM_000243.2	NP_000234.1:p.(Glu230Lys)	NC_000016.9:g.3304380C>T	VUS	1 lab	cc8bfeceb7
10:90774047 FAS A>G	10	90774047	90774047	A	G	FAS	c.848A>G	NM_000043.4	NP_000034.1:p.(Gln283Arg)	NC_000010.10:g.90774047A>G	VUS	1 lab	cc8c225957
8:145541748 DGAT1 A>G	8	145541748	145541748	A	G	DGAT1	c.751+10T>C	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145541748A>G	(Likely) benign	1 lab	cc8fe6c9ba
5:136975671 KLHL3 G>A	5	136975671	136975671	G	A	KLHL3	c.904-5C>T	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.136975671G>A	(Likely) benign	1 lab	cc9fb16f93
20:42743421 JPH2 C>T	20	42743421	42743421	C	T	JPH2	c.*14+1G>A	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42743421C>T	VUS	1 lab	cca75b5722
2:179582105 TTN A>G	2	179582105	179582105	A	G	TTN	c.25356T>C	NM_001267550.1	NP_001254479.1:p.(His8452=)	NC_000002.11:g.179582105A>G	(Likely) benign	1 lab	cca923c69b
21:33043783 SCAF4 ACT>A	21	33043783	33043787	ACT	A	SCAF4	c.3371_3372del	NM_020706.2	NP_065757.1:p.(Glu1124ValfsTer4)	NC_000021.8:g.33043786_33043787del	VUS	1 lab	d7fb5ff278
1:158059605 KIRREL1 C>A	1	158059605	158059605	C	A	KIRREL1	c.969C>A	NM_001286349.1	NP_001273278.1:p.(Arg323=)	NC_000001.10:g.158059605C>A	(Likely) benign	1 lab	ccaf24b932
12:110034230 MVK G>A	12	110034230	110034230	G	A	MVK	c.1040-1G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110034230G>A	(Likely) pathogenic	1 lab	ccaf695fb8
16:2150459 PKD1 C>T	16	2150459	2150459	C	T	PKD1	c.9506G>A	NM_001009944.2	NP_001009944.2:p.(Arg3169Gln)	NC_000016.9:g.2150459C>T	(Likely) benign	1 lab	ccb2c73412
X:24757477 POLA1 G>A	X	24757477	24757477	G	A	POLA1	c.2041-15G>A	NM_001330360.2	NP_001317289.1:p.?	NC_000023.10:g.24757477G>A	(Likely) benign	1 lab	ccb80c0168
1:197069608 ASPM G>A	1	197069608	197069608	G	A	ASPM	c.8773C>T	NM_018136.5	NP_060606.3:p.(Gln2925Ter)	NC_000001.10:g.197069608G>A	(Likely) pathogenic	1 lab	ccb976817d
3:57232305 HESX1 G>A	3	57232305	57232305	G	A	HESX1	c.478C>T	NM_003865.3	NP_003856.1:p.(Arg160Cys)	NC_000003.11:g.57232305G>A	(Likely) pathogenic	1 lab	ccbedb57f4
1:146759387 CHD1L A>G	1	146759387	146759387	A	G	CHD1L	c.2295A>G	NM_004284.6	NP_004275.4:p.(Ile765Met)	NC_000001.10:g.146759387A>G	(Likely) benign	1 lab	ccc0ebc19b
19:55667655 TNNI3 C>T	19	55667655	55667655	C	T	TNNI3	c.196G>A	NM_000363.5	NP_000354.4:p.(Glu66Lys)	NC_000019.9:g.55667655C>T	VUS	1 lab	d802e2a042
19:13322955 CACNA1A G>T	19	13322955	13322955	G	T	CACNA1A	c.6283C>A	NM_000068.4	NP_000059.3:p.(Arg2095=)	NC_000019.9:g.13322955G>T	(Likely) benign	1 lab	ccc3e0e66c
9:5072571 JAK2 A>G	9	5072571	5072571	A	G	JAK2	c.1721A>G	NM_004972.3	NP_004963.1:p.(His574Arg)	NC_000009.11:g.5072571A>G	(Likely) benign	1 lab	ccc511ccb1
21:45194582 CSTB G>T	21	45194582	45194582	G	T	CSTB	c.125C>A	NM_000100.3	NP_000091.1:p.(Ser42Ter)	NC_000021.8:g.45194582G>T	(Likely) pathogenic	1 lab	ccc8e2b28c
17:21204210 MAP2K3 C>T	17	21204210	21204210	C	T	MAP2K3	c.304C>T	NM_145109.3	NP_659731.1:p.(Gln102Ter)	NC_000017.10:g.21204210C>T	(Likely) benign	1 lab	ccc9eeecb7
11:32410774 WT1 A>G	11	32410774	32410774	A	G	WT1				NC_000011.9:g.32410774A>G	(Likely) benign	1 lab	cccf9e7531
1:95538342 ALG14 C>A	1	95538342	95538342	C	A	ALG14	c.113G>T	NM_144988.4	NP_659425.1:p.(Ser38Ile)	NC_000001.10:g.95538342C>A	(Likely) benign	1 lab	ccd1f6dda8
17:48155558 ITGA3 A>G	17	48155558	48155558	A	G	ITGA3	c.2220-13A>G	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48155558A>G	(Likely) benign	1 lab	ccd58deeed
21:45656835 ICOSLG G>A	21	45656835	45656835	G	A	ICOSLG	c.321C>T	NM_015259.6	NP_056074.1:p.(Asp107=)	NC_000021.8:g.45656835G>A	(Likely) benign	1 lab	ccd6b69317
6:50791164 TFAP2B G>C	6	50791164	50791164	G	C	TFAP2B	c.126G>C	NM_003221.4	NP_003212.2:p.(Gln42His)	NC_000006.11:g.50791164G>C	VUS	1 lab	ccd7417c66
6:32946979 BRD2 C>T	6	32946979	32946979	C	T	BRD2	c.1946+8C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946979C>T	(Likely) benign	1 lab	ccd7a6c030
1:112524432 KCND3 C>A	1	112524432	112524432	C	A	KCND3	c.917G>T	NM_004980.4	NP_004971.2:p.(Gly306Val)	NC_000001.10:g.112524432C>A	(Likely) pathogenic	1 lab	ccdbaf8e88
X:107929311 COL4A5 G>A	X	107929311	107929311	G	A	COL4A5	c.4249G>A	NM_000495.5	NP_000486.1:p.(Asp1417Asn)	NC_000023.10:g.107929311G>A	(Likely) benign	1 lab	cce0996b60
13:32911747 BRCA2 T>C	13	32911747	32911747	T	C	BRCA2	c.3255T>C	NM_000059.4	NP_000050.3:p.(His1085=)	NC_000013.10:g.32911747T>C	(Likely) benign	1 lab	d804c22076
1:247588869 NLRP3 C>T	1	247588869	247588869	C	T	NLRP3	c.2124C>T	NM_004895.4	NP_004886.3:p.(Leu708=)	NC_000001.10:g.247588869C>T	(Likely) benign	1 lab	cce68edc26
16:27772745 KATNIP A>G	16	27772745	27772745	A	G	KATNIP	c.3643A>G	NM_015202.3	NP_056017.3:p.(Asn1215Asp)	NC_000016.9:g.27772745A>G	(Likely) benign	1 lab	cceaf05bc2
9:95481994 BICD2 C>T	9	95481994	95481994	C	T	BICD2	c.1063-130G>A	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95481994C>T	(Likely) benign	1 lab	cced82a10e
8:17914871 ASAH1 GA>G	8	17914871	17914881	GA	G	ASAH1	c.*171del	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17914881del	(Likely) benign	1 lab	ccf20e4225
19:4101044 MAP2K2 G>A	19	4101044	4101044	G	A	MAP2K2	c.678C>T	NM_030662.3	NP_109587.1:p.(Ser226=)	NC_000019.9:g.4101044G>A	(Likely) benign	1 lab	ccf248fb3a
2:166732742 TTC21B C>A	2	166732742	166732742	C	A	TTC21B	c.3806G>T	NM_024753.5	NP_079029.3:p.(Gly1269Val)	NC_000002.11:g.166732742C>A	VUS	1 lab	ccf4095311
17:3558281 CTNS C>T	17	3558281	3558281	C	T	CTNS	c.226-11C>T	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3558281C>T	(Likely) benign	1 lab	ccf5a0d141
20:61987928 CHRNA4 C>T	20	61987928	61987928	C	T	CHRNA4	c.229-161G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61987928C>T	(Likely) benign	1 lab	ccf6e30859
5:147506563 SPINK5 A>AT	5	147506563	147506564	A	AT	SPINK5	c.2885_2886insT	NM_006846.4	NP_006837.2:p.(Glu962AspfsTer13)	NC_000005.9:g.147506563_147506564insT	(Likely) pathogenic	1 lab	d809171675
22:32242804 DEPDC5 C>T	22	32242804	32242804	C	T	DEPDC5	c.3022-16C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32242804C>T	(Likely) benign	1 lab	ccff9b30e3
12:15679132 PTPRO C>T	12	15679132	15679132	C	T	PTPRO	c.2100C>T	NM_030667.3	NP_109592.1:p.(Asn700=)	NC_000012.11:g.15679132C>T	(Likely) benign	1 lab	cd0006e017
1:161192845 APOA2 CCACACACA>C	1	161192845	161192884	CCACACACA	C	APOA2	c.53-13_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192877_161192884del	(Likely) benign	1 lab	cd04ba3e2d
2:179466374 TTN G>A	2	179466374	179466374	G	A	TTN	c.55432+11C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179466374G>A	(Likely) benign	1 lab	cd05b3fdd2
19:11303718 KANK2 G>A	19	11303718	11303718	G	A	KANK2	c.1038C>T	NM_001136191.2	NP_001129663.1:p.(Ala346=)	NC_000019.9:g.11303718G>A	(Likely) benign	1 lab	cd05c2f01d
10:60553261 BICC1 G>A	10	60553261	60553261	G	A	BICC1	c.1065G>A	NM_001080512.3	NP_001073981.1:p.(Val355=)	NC_000010.10:g.60553261G>A	(Likely) benign	1 lab	cd0797ab79
8:133141960 KCNQ3 C>T	8	133141960	133141960	C	T	KCNQ3	c.2168G>A	NM_004519.4	NP_004510.1:p.(Gly723Glu)	NC_000008.10:g.133141960C>T	(Likely) benign	1 lab	cd08cdd97c
X:24760181 POLA1 C>T	X	24760181	24760181	C	T	POLA1	c.2391C>T	NM_016937.4	NP_058633.2:p.(Tyr797=)	NC_000023.10:g.24760181C>T	(Likely) benign	1 lab	cd1553f5e8
16:3708130 TRAP1 T>G	16	3708130	3708130	T	G	TRAP1	c.2115A>C	NM_016292.3	NP_057376.2:p.(Ter705CysextTer8)	NC_000016.9:g.3708130T>G	(Likely) benign	1 lab	cd1aef3737
12:21623284 RECQL C>A	12	21623284	21623284	C	A	RECQL	c.1798-4G>T	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623284C>A	(Likely) benign	1 lab	cd1c9f0659
17:8138432 CTC1 G>A	17	8138432	8138432	G	A	CTC1	c.1378C>T	NM_025099.6	NP_079375.3:p.(Arg460Cys)	NC_000017.10:g.8138432G>A	(Likely) benign	1 lab	cd2fd7fcc7
15:77329366 PSTPIP1 G>A	15	77329366	77329366	G	A	PSTPIP1	c.1120-20G>A	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77329366G>A	(Likely) benign	1 lab	cd31cf1099
3:48602523 COL7A1 G>GGGC	3	48602523	48602525	G	GGGC	COL7A1	c.8620+18_8620+19insGCC	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48602524_48602525insGCG	(Likely) benign	1 lab	d80b156c97
4:170400648 NEK1 G>A	4	170400648	170400648	G	A	NEK1	c.2045C>T	NM_001199397.3	NP_001186326.1:p.(Pro682Leu)	NC_000004.11:g.170400648G>A	(Likely) benign	1 lab	d80b3e7183
19:19310062 RFXANK G>C	19	19310062	19310062	G	C	RFXANK	c.712+19G>C	NM_003721.2	NP_003712.1:p.?	NC_000019.9:g.19310062G>C	(Likely) benign	1 lab	cd41fb0155
2:152580759 NEB G>A	2	152580759	152580759	G	A	NEB	c.612+15C>T	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152580759G>A	(Likely) benign	1 lab	cd431d861a
11:47368616 MYBPC3 C>T	11	47368616	47368616	C	T	MYBPC3	c.906-36G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368616C>T	(Likely) pathogenic	1 lab	cd4a84b512
11:65487285 RNASEH2C A>G	11	65487285	65487285	A	G	RNASEH2C	c.469-5T>C	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487285A>G	(Likely) benign	1 lab	cd4dd54fc1
12:6442982 TNFRSF1A G>C	12	6442982	6442982	G	C	TNFRSF1A	c.243C>G	NM_001065.3	NP_001056.1:p.(Cys81Trp)	NC_000012.11:g.6442982G>C	(Likely) pathogenic	1 lab	cd546aa85e
2:109371370 RANBP2 C>T	2	109371370	109371370	C	T	RANBP2	c.2212C>T	NM_006267.4	NP_006258.3:p.(Pro738Ser)	NC_000002.11:g.109371370C>T	(Likely) benign	1 lab	cd55729274
22:32302487 DEPDC5 C>CAGGCTGCACCAGGGTTAGA	22	32302487	32302498	C	CAGGCTGCACCAGGGTTAGA	DEPDC5	c.*14_*15insAGGGTTAGAAGGCTGCACC	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32302497_32302498insAGGGTTAGAAGGCTGCACC	(Likely) benign	1 lab	cd57c94169
7:45108142 CCM2 G>C	7	45108142	45108142	G	C	CCM2	c.636G>C	NM_001029835.2	NP_001025006.1:p.(Glu212Asp)	NC_000007.13:g.45108142G>C	(Likely) benign	1 lab	cd59af8907
3:39229011 XIRP1 C>T	3	39229011	39229011	C	T	XIRP1	c.1926G>A	NM_194293.4	NP_919269.2:p.(Arg642=)	NC_000003.11:g.39229011C>T	(Likely) benign	1 lab	cd5c0f41a7
16:56868657 NUP93 T>G	16	56868657	56868657	T	G	NUP93	c.1749T>G	NM_014669.5	NP_055484.3:p.(Ile583Met)	NC_000016.9:g.56868657T>G	(Likely) benign	1 lab	cd5f99a1b2
9:104193196 ALDOB G>A	9	104193196	104193196	G	A	ALDOB	c.-10-17C>T	NM_000035.4	NP_000026.2:p.?	NC_000009.11:g.104193196G>A	(Likely) benign	1 lab	cd653d0d93
16:2140389 PKD1 CG>C	16	2140389	2140390	CG	C	PKD1	c.12340del	NM_001009944.3	NP_001009944.3:p.(Arg4114ValfsTer84)	NC_000016.9:g.2140390del	(Likely) pathogenic	1 lab	cd680d67af
21:45175839 PDXK C>T	21	45175839	45175839	C	T	PDXK	c.834C>T	NM_003681.5	NP_003672.1:p.(Ala278=)	NC_000021.8:g.45175839C>T	(Likely) benign	1 lab	cd6ed9c0b1
13:39262013 FREM2 C>T	13	39262013	39262013	C	T	FREM2	c.532C>T	NM_207361.6	NP_997244.4:p.(Gln178Ter)	NC_000013.10:g.39262013C>T	VUS	1 lab	cd708d24db
5:180057338 FLT4 C>G	5	180057338	180057338	C	G	FLT4	c.401-1G>C	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180057338C>G	(Likely) pathogenic	1 lab	cd726d588f
X:31986444 DMD C>G	X	31986444	31986444	C	G	DMD	c.6245+12G>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31986444C>G	(Likely) benign	1 lab	cd72b5cec6
18:47462659 MYO5B G>A	18	47462659	47462659	G	A	MYO5B	c.1966C>T	NM_001080467.3	NP_001073936.1:p.(Arg656Cys)	NC_000018.9:g.47462659G>A	(Likely) pathogenic	1 lab	cd79f9e89a
11:3849224 RHOG G>A	11	3849224	3849224	G	A	RHOG	c.145C>T	NM_001665.4	NP_001656.2:p.(Arg49Cys)	NC_000011.9:g.3849224G>A	(Likely) benign	1 lab	cd7c07c4e3
9:5080214 JAK2 C>T	9	5080214	5080214	C	T	JAK2	c.2132-15C>T	NM_001322194.1	NP_001309123.1:p.?	NC_000009.11:g.5080214C>T	(Likely) benign	1 lab	cd824bd172
2:39241069 SOS1 G>C	2	39241069	39241069	G	C	SOS1	c.2002C>G	NM_005633.3	NP_005624.2:p.(Gln668Glu)	NC_000002.11:g.39241069G>C	(Likely) benign	1 lab	cd82ff9106
1:237870335 RYR2 G>A	1	237870335	237870335	G	A	RYR2	c.9667G>A	NM_001035.3	NP_001026.2:p.(Glu3223Lys)	NC_000001.10:g.237870335G>A	VUS	1 lab	cd853cfa84
2:113818507 IL36RN C>T	2	113818507	113818507	C	T	IL36RN	c.108C>T	NM_012275.2	NP_036407.1:p.(Val36=)	NC_000002.11:g.113818507C>T	(Likely) benign	1 lab	cd87b77ca4
2:179429578 TTN T>G	2	179429578	179429578	T	G	TTN	c.81281A>C	NM_001267550.2	NP_001254479.2:p.(His27094Pro)	NC_000002.11:g.179429578T>G	VUS	1 lab	d80c26e15f
4:110834559 EGF C>T	4	110834559	110834559	C	T	EGF	c.68C>T	NM_001963.6	NP_001954.2:p.(Pro23Leu)	NC_000004.11:g.110834559C>T	(Likely) benign	1 lab	cd900f7b54
15:51017527 SPPL2A AAAAACAAAAC>A	15	51017527	51017561	AAAAACAAAAC	A	SPPL2A	c.1147-17_1147-8del	NM_032802.4	NP_116191.2:p.?	NC_000015.9:g.51017552_51017561del	(Likely) benign	1 lab	cd91b81bf9
X:122551248 GRIA3 T>C	X	122551248	122551248	T	C	GRIA3	c.1501-5T>C	NM_000828.4	NP_000819.3:p.?	NC_000023.10:g.122551248T>C	(Likely) benign	1 lab	cd9298b94c
19:50365536 PNKP C>T	19	50365536	50365536	C	T	PNKP	c.1032G>A	NM_007254.4	NP_009185.2:p.(Arg344=)	NC_000019.9:g.50365536C>T	(Likely) benign	1 lab	cd93378ac9
14:23897828 MYH7 G>A	14	23897828	23897828	G	A	MYH7	c.1459C>T	NM_000257.2	NP_000248.2:p.(Gln487Ter)	NC_000014.8:g.23897828G>A	VUS	1 lab	cd9798b34b
1:201341180 TNNT2 G>GA	1	201341180	201341181	G	GA	TNNT2	c.53-12dup	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201341181dup	(Likely) benign	1 lab	cd998e5f3e
5:176813493 SLC34A1 G>T	5	176813493	176813493	G	T	SLC34A1	c.458G>T	NM_003052.5	NP_003043.3:p.(Gly153Val)	NC_000005.9:g.176813493G>T	(Likely) pathogenic	1 lab	cd9ce8cd3a
3:25679805 TOP2B TAAAAAAAAAAAAAAAAAAAAAAA>T	3	25679805	25679843	TAAAAAAAAAAAAAAAAAAAAAAA	T	TOP2B	c.396-27_396-5del	NM_001330700.2	NP_001317629.1:p.?	NC_000003.11:g.25679821_25679843del	(Likely) benign	1 lab	cd9f330993
16:3304202 MEFV G>A	16	3304202	3304202	G	A	MEFV	c.866C>T	NM_000243.2	NP_000234.1:p.(Ala289Val)	NC_000016.9:g.3304202G>A	VUS	1 lab	cd9f7fe5aa
X:100608191 BTK G>A	X	100608191	100608191	G	A	BTK	c.1899C>T	NM_000061.2	NP_000052.1:p.(Cys633=)	NC_000023.10:g.100608191G>A	(Likely) benign	1 lab	cda193c47f
22:37333677 CSF2RB G>A	22	37333677	37333677	G	A	CSF2RB	c.1827G>A	NM_000395.3	NP_000386.1:p.(Pro609=)	NC_000022.10:g.37333677G>A	(Likely) benign	1 lab	cda3f06c47
9:73457993 TRPM3 G>A	9	73457993	73457993	G	A	TRPM3	c.268C>T	NM_020952.6	NP_066003.3:p.(Arg90Ter)	NC_000009.11:g.73457993G>A	VUS	1 lab	d80e8fe2f2
16:88801352 PIEZO1 G>A	16	88801352	88801352	G	A	PIEZO1	c.1779C>T	NM_001142864.4	NP_001136336.2:p.(Phe593=)	NC_000016.9:g.88801352G>A	(Likely) benign	1 lab	cda7703295
5:90021499 ADGRV1 GT>G	5	90021499	90021508	GT	G	ADGRV1	c.10161+35del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021508del	(Likely) benign	1 lab	cda9956c93
7:148080726 CNTNAP2 C>A	7	148080726	148080726	C	A	CNTNAP2	c.3476-15C>A	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148080726C>A	(Likely) benign	1 lab	cdaf847cb7
19:10468447 TYK2 G>T	19	10468447	10468447	G	T	TYK2	c.2459C>A	NM_003331.4	NP_003322.3:p.(Pro820His)	NC_000019.9:g.10468447G>T	(Likely) benign	1 lab	cdb1d45a44
5:90085783 ADGRV1 G>A	5	90085783	90085783	G	A	ADGRV1	c.14043+115G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90085783G>A	(Likely) benign	1 lab	cdb41795a3
17:5461874 NLRP1 G>C	17	5461874	5461874	G	C	NLRP1	c.2142C>G	NM_033004.4	NP_127497.1:p.(His714Gln)	NC_000017.10:g.5461874G>C	(Likely) benign	1 lab	cdbb58e9ce
21:38878516 DYRK1A A>C	21	38878516	38878516	A	C	DYRK1A	c.1661A>C	NM_001396.4	NP_001387.2:p.(His554Pro)	NC_000021.8:g.38878516A>C	(Likely) benign	1 lab	cdc115c031
22:31018958 TCN2 T>G	22	31018958	31018958	T	G	TCN2	c.1029T>G	NM_001184726.1	NP_001171655.1:p.(Tyr343Ter)	NC_000022.10:g.31018958T>G	(Likely) pathogenic	1 lab	cdc4c78381
9:77427075 TRPM6 G>A	9	77427075	77427075	G	A	TRPM6	c.1443+140C>T	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77427075G>A	(Likely) benign	1 lab	cdc5b1b6bf
4:128841897 MFSD8 C>G	4	128841897	128841897	C	G	MFSD8	c.1445G>C	NM_152778.3	NP_689991.1:p.(Arg482Pro)	NC_000004.11:g.128841897C>G	VUS	1 lab	d80feac607
16:3304693 MEFV C>T	16	3304693	3304693	C	T	MEFV	c.375G>A	NM_000243.2	NP_000234.1:p.(Glu125=)	NC_000016.9:g.3304693C>T	(Likely) benign	1 lab	cdcbd5498b
11:2416651 CD81 C>T	11	2416651	2416651	C	T	CD81	c.360C>T	NM_004356.3	NP_004347.1:p.(Ala120=)	NC_000011.9:g.2416651C>T	(Likely) benign	1 lab	cdcbe3443b
4:126355498 FAT4 A>G	4	126355498	126355498	A	G	FAT4				NC_000004.11:g.126355498A>G	(Likely) benign	1 lab	cdd08fd99b
X:54494208 FGD1 G>A	X	54494208	54494208	G	A	FGD1	c.1340+9C>T	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54494208G>A	(Likely) benign	1 lab	cdd2038658
15:27184435 GABRA5 C>T	15	27184435	27184435	C	T	GABRA5	c.725-637C>T	NM_000810.4	NP_000801.1:p.?	NC_000015.9:g.27184435C>T	(Likely) benign	1 lab	d8153f3db2
8:28573652 EXTL3 C>T	8	28573652	28573652	C	T	EXTL3	c.76C>T	NM_001440.4	NP_001431.1:p.(Arg26Cys)	NC_000008.10:g.28573652C>T	(Likely) benign	1 lab	cdd56cd65f
X:154156979 F8 A>C	X	154156979	154156979	A	C	F8	c.5086T>G	NM_000132.3	NP_000123.1:p.(Phe1696Val)	NC_000023.10:g.154156979A>C	(Likely) pathogenic	1 lab	cde637f877
15:41798124 LTK C>T	15	41798124	41798124	C	T	LTK	c.1621G>A	NM_002344.6	NP_002335.2:p.(Val541Ile)	NC_000015.9:g.41798124C>T	(Likely) benign	1 lab	cde7caafdb
7:140439738 BRAF A>T	7	140439738	140439738	A	T	BRAF	c.2001T>A	NM_004333.4	NP_004324.2:p.(Phe667Leu)	NC_000007.13:g.140439738A>T	VUS	1 lab	cdec0f14a2
X:100655654 GLA C>T	X	100655654	100655654	C	T	GLA	c.639G>A	NM_000169.2	NP_000160.1:p.(Lys213=)	NC_000023.10:g.100655654C>T	VUS	1 lab	cdef63e4a5
20:10626027 JAG1 C>T	20	10626027	10626027	C	T	JAG1	c.2090G>A	NM_000214.3	NP_000205.1:p.(Trp697Ter)	NC_000020.10:g.10626027C>T	(Likely) pathogenic	1 lab	cdf000cf1a
14:23855775 MYH6 T>C	14	23855775	23855775	T	C	MYH6	c.4708A>G	NM_002471.3	NP_002462.2:p.(Ile1570Val)	NC_000014.8:g.23855775T>C	VUS	1 lab	cdfc1c6c81
2:166909178 SCN1A C>T	2	166909178	166909178	C	T	SCN1A	c.694+184G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909178C>T	(Likely) benign	1 lab	cdfd6cb929
2:179431713 TTN A>AT	2	179431713	179431718	A	AT	TTN	c.52325dup	NM_133432.3	NP_597676.3:p.(Asn17442LysfsTer31)	NC_000002.11:g.179431718dup	(Likely) pathogenic	1 lab	cdfe67ff43
8:68658131 CPA6 A>C	8	68658131	68658131	A	C	CPA6	c.116+118T>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658131A>C	(Likely) benign	1 lab	cdff43bdb9
15:25615631 UBE3A T>C	15	25615631	25615631	T	C	UBE3A	c.1617+82A>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25615631T>C	(Likely) benign	1 lab	cdff99328b
1:32669629 CCDC28B G>T	1	32669629	32669629	G	T	CCDC28B	c.314G>T	NM_001301011.2	NP_001287940.1:p.(Gly105Val)	NC_000001.10:g.32669629G>T	(Likely) benign	1 lab	ce008b979b
1:156084787 LMNA C>T	1	156084787	156084787	C	T	LMNA				NC_000001.10:g.156084787C>T	(Likely) benign	1 lab	ce06a32dcf
9:14819515 FREM1 G>A	9	14819515	14819515	G	A	FREM1	c.2338-75C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14819515G>A	(Likely) benign	1 lab	ce072f6335
3:37081676 MLH1 G>A	3	37081676	37081676	G	A	MLH1	c.1559-1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37081676G>A	(Likely) pathogenic	1 lab	ce086a9b1a
19:7709562 STXBP2 TC>T	19	7709562	7709564	TC	T	STXBP2	c.1172del	NM_006949.4	NP_008880.2:p.(Pro391ArgfsTer27)	NC_000019.9:g.7709564del	(Likely) pathogenic	1 lab	ce0968fffa
1:206945608 IL10 A>G	1	206945608	206945608	A	G	IL10	c.165+8T>C	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206945608A>G	(Likely) benign	1 lab	ce101e0e69
11:65321267 LTBP3 G>C	11	65321267	65321267	G	C	LTBP3	c.769C>G	NM_001130144.2	NP_001123616.1:p.(Gln257Glu)	NC_000011.9:g.65321267G>C	VUS	1 lab	ce1136c26d
4:149356921 NR3C2 C>T	4	149356921	149356921	C	T	NR3C2	c.1092G>A	NM_000901.5	NP_000892.2:p.(Thr364=)	NC_000004.11:g.149356921C>T	(Likely) benign	1 lab	ce14d7bf13
15:89836024 FANCI G>A	15	89836024	89836024	G	A	FANCI	c.2098G>A	NM_001113378.1	NP_001106849.1:p.(Glu700Lys)	NC_000015.9:g.89836024G>A	(Likely) benign	1 lab	ce1698f7b6
2:189922045 COL5A2 C>A	2	189922045	189922045	C	A	COL5A2	c.2337+1G>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189922045C>A	VUS	1 lab	ce16ed6e2e
11:117279712 CEP164 C>T	11	117279712	117279712	C	T	CEP164	c.3716C>T	NM_014956.5	NP_055771.4:p.(Pro1239Leu)	NC_000011.9:g.117279712C>T	(Likely) benign	1 lab	ce1a195cdd
16:30199421 CORO1A C>T	16	30199421	30199421	C	T	CORO1A	c.1007+13C>T	NM_007074.4	NP_009005.1:p.?	NC_000016.9:g.30199421C>T	(Likely) benign	1 lab	ce1a7ffe49
14:67452608 GPHN CT>C	14	67452608	67452617	CT	C	GPHN	c.963+20575del	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67452617del	(Likely) benign	1 lab	ce1aa52c0a
9:14792734 FREM1 C>T	9	14792734	14792734	C	T	FREM1	c.3981+7G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14792734C>T	(Likely) benign	1 lab	ce1da927b1
11:1959653 TNNT3 G>C	11	1959653	1959653	G	C	TNNT3	c.699-15G>C	NM_001297646.2	NP_001284575.1:p.?	NC_000011.9:g.1959653G>C	(Likely) benign	1 lab	ce214c211c
17:73840352 UNC13D G>A	17	73840352	73840352	G	A	UNC13D	c.67C>T	NM_199242.2	NP_954712.1:p.(Arg23Cys)	NC_000017.10:g.73840352G>A	VUS	1 lab	ce21f09b54
4:79440425 FRAS1 T>C	4	79440425	79440425	T	C	FRAS1	c.10390-60T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79440425T>C	(Likely) benign	1 lab	ce23d3b72e
M:14905 MISSING G>A	M	14905		G	A	MISSING				NC_012920.1:m.14905G>A	(Likely) benign	1 lab	ce24af3007
19:16593319 CALR3 G>A	19	16593319	16593319	G	A	CALR3	c.860C>T	NM_145046.4	NP_659483.2:p.(Thr287Met)	NC_000019.9:g.16593319G>A	VUS	1 lab	ce27e7eac9
1:21900166 ALPL G>A	1	21900166	21900166	G	A	ALPL	c.871G>A	NM_000478.6	NP_000469.3:p.(Glu291Lys)	NC_000001.10:g.21900166G>A	(Likely) pathogenic	1 lab	d8188b22ce
X:31697507 DMD T>C	X	31697507	31697507	T	C	DMD	c.7488A>G	NM_004010.3	NP_004001.1:p.(Lys2496=)	NC_000023.10:g.31697507T>C	(Likely) benign	1 lab	ce30c32730
4:38119788 TBC1D1 G>T	4	38119788	38119788	G	T	TBC1D1	c.2937G>T	NM_015173.4	NP_055988.2:p.(Pro979=)	NC_000004.11:g.38119788G>T	(Likely) benign	1 lab	ce31b0f21a
16:2150276 PKD1 G>A	16	2150276	2150276	G	A	PKD1	c.9603C>T	NM_001009944.2	NP_001009944.2:p.(Ile3201=)	NC_000016.9:g.2150276G>A	(Likely) benign	1 lab	ce33cfe54d
19:55667667 TNNI3 C>T	19	55667667	55667667	C	T	TNNI3	c.184G>A	NM_000363.4	NP_000354.4:p.(Glu62Lys)	NC_000019.9:g.55667667C>T	VUS	1 lab	ce344c897e
1:120611496 NOTCH2 C>A	1	120611496	120611496	C	A	NOTCH2	c.73+452G>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611496C>A	(Likely) benign	1 lab	d81bb32794
22:32222653 DEPDC5 A>T	22	32222653	32222653	A	T	DEPDC5	c.2104+3877A>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32222653A>T	(Likely) benign	1 lab	ce4742ff3e
9:108363574 FKTN G>A	9	108363574	108363574	G	A	FKTN	c.314G>A	NM_001079802.1	NP_001073270.1:p.(Cys105Tyr)	NC_000009.11:g.108363574G>A	(Likely) pathogenic	1 lab	ce4ff2fa57
6:7583479 DSP T>G	6	7583479	7583479	T	G	DSP	c.5984T>G	NM_004415.2	NP_004406.2:p.(Leu1995Trp)	NC_000006.11:g.7583479T>G	VUS	1 lab	ce507844ee
12:110028575 MVK G>C	12	110028575	110028575	G	C	MVK	c.678-1G>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110028575G>C	(Likely) pathogenic	1 lab	ce529f13ba
4:106861764 NPNT G>C	4	106861764	106861764	G	C	NPNT	c.824G>C	NM_001184691.2	NP_001171620.1:p.(Gly275Ala)	NC_000004.11:g.106861764G>C	(Likely) benign	1 lab	ce53dc771a
1:158607931 SPTA1 C>T	1	158607931	158607931	C	T	SPTA1	c.5081G>A	NM_003126.3	NP_003117.2:p.(Arg1694His)	NC_000001.10:g.158607931C>T	(Likely) benign	1 lab	ce5469dd0c
1:149755542 FCGR1A T>C	1	149755542	149755542	T	C	FCGR1A	c.53-17T>C	NM_000566.3	NP_000557.1:p.?	NC_000001.10:g.149755542T>C	(Likely) benign	1 lab	ce54d200bb
16:81398706 GAN A>G	16	81398706	81398706	A	G	GAN	c.1364A>G	NM_022041.3	NP_071324.1:p.(Lys455Arg)	NC_000016.9:g.81398706A>G	(Likely) benign	1 lab	ce5562901b
7:98508145 TRRAP T>C	7	98508145	98508145	T	C	TRRAP	c.1727T>C	NM_003496.4	NP_003487.1:p.(Ile576Thr)	NC_000007.13:g.98508145T>C	(Likely) benign	1 lab	d81d6a4fcb
19:35739852 LSR G>A	19	35739852	35739852	G	A	LSR	c.71G>A	NM_205834.3	NP_991403.1:p.(Trp24Ter)	NC_000019.9:g.35739852G>A	VUS	1 lab	ce5d26fa52
12:111070526 TCTN1 C>A	12	111070526	111070526	C	A	TCTN1	c.712+162C>A	NM_024549.6	NP_078825.2:p.?	NC_000012.11:g.111070526C>A	(Likely) benign	1 lab	ce5e7c59e3
3:9969973 IL17RC T>C	3	9969973	9969973	T	C	IL17RC	c.1091-16T>C	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9969973T>C	(Likely) benign	1 lab	ce615fe7ce
X:1407492 CSF2RA T>C	X	1407492	1407492	T	C	CSF2RA	c.300T>C	NM_001161530.1	NP_001155002.1:p.(Thr100=)	NC_000023.10:g.1407492T>C	(Likely) benign	1 lab	ce620d23f1
15:45360983 SORD A>G	15	45360983	45360983	A	G	SORD	c.611-92A>G	NM_003104.6	NP_003095.2:p.?	NC_000015.9:g.45360983A>G	(Likely) benign	1 lab	ce62b7e607
X:39932930 BCOR C>T	X	39932930	39932930	C	T	BCOR	c.1669G>A	NM_017745.6	NP_060215.4:p.(Val557Ile)	NC_000023.10:g.39932930C>T	(Likely) benign	1 lab	ce63184708
5:90051052 ADGRV1 T>G	5	90051052	90051052	T	G	ADGRV1	c.11580+50T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90051052T>G	(Likely) benign	1 lab	ce6c43dbf5
12:66849436 GRIP1 C>A	12	66849436	66849436	C	A	GRIP1	c.1043-92G>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849436C>A	(Likely) benign	1 lab	ce6cb91b5d
19:12763267 MAN2B1 C>T	19	12763267	12763267	C	T	MAN2B1	c.1838G>A	NM_000528.4	NP_000519.2:p.(Arg613Gln)	NC_000019.9:g.12763267C>T	(Likely) benign	1 lab	ce6d01b93b
2:166903492 SCN1A AAC>A	2	166903492	166903495	AAC	A	SCN1A	c.1171-8_1171-7del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166903494_166903495del	(Likely) benign	1 lab	ce6f283ca9
7:147844505 CNTNAP2 G>T	7	147844505	147844505	G	T	CNTNAP2	c.2555-78G>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147844505G>T	(Likely) benign	1 lab	ce70bb0542
17:78084640 GAA G>A	17	78084640	78084640	G	A	GAA	c.1551+1G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78084640G>A	(Likely) pathogenic	1 lab	ce72ce8399
5:90016912 ADGRV1 A>T	5	90016912	90016912	A	T	ADGRV1	c.9748+36A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90016912A>T	(Likely) benign	1 lab	ce72f3dfa6
5:89910142 ADGRV1 C>T	5	89910142	89910142	C	T	ADGRV1	c.23-510C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910142C>T	(Likely) benign	1 lab	ce74359170
17:6499498 KIAA0753 G>A	17	6499498	6499498	G	A	KIAA0753	c.2338C>T	NM_014804.3	NP_055619.2:p.(Arg780Cys)	NC_000017.10:g.6499498G>A	(Likely) benign	1 lab	ce74bdc194
9:137688202 COL5A1 C>T	9	137688202	137688202	C	T	COL5A1	c.2800-18C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137688202C>T	(Likely) benign	1 lab	ce7551a50c
1:158632603 SPTA1 G>A	1	158632603	158632603	G	A	SPTA1	c.2353C>T	NM_003126.3	NP_003117.2:p.(Arg785Ter)	NC_000001.10:g.158632603G>A	(Likely) pathogenic	1 lab	ce7b9b8b4a
17:73214268 NUP85 C>G	17	73214268	73214268	C	G	NUP85	c.476-12C>G	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73214268C>G	(Likely) benign	1 lab	ce7e577d4f
19:42793517 CIC G>A	19	42793517	42793517	G	A	CIC	c.1319G>A	NM_015125.5	NP_055940.3:p.(Arg440His)	NC_000019.9:g.42793517G>A	VUS	1 lab	d8202f57e5
4:126372348 FAT4 G>A	4	126372348	126372348	G	A	FAT4	c.10183G>A	NM_001291303.1	NP_001278232.1:p.(Val3395Ile)	NC_000004.11:g.126372348G>A	(Likely) benign	1 lab	ce81ebf567
9:5065003 JAK2 C>G	9	5065003	5065003	C	G	JAK2	c.1177C>G	NM_004972.3	NP_004963.1:p.(Leu393Val)	NC_000009.11:g.5065003C>G	(Likely) benign	1 lab	ce87db827e
3:38052946 PLCD1 C>G	3	38052946	38052946	C	G	PLCD1	c.622-10G>C	NM_001130964.2	NP_001124436.1:p.?	NC_000003.11:g.38052946C>G	(Likely) benign	1 lab	d827a6f871
2:166852489 SCN1A G>A	2	166852489	166852489	G	A	SCN1A	c.4581+34C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166852489G>A	(Likely) benign	1 lab	ce89d897f6
12:110029028 MVK C>T	12	110029028	110029028	C	T	MVK	c.769-18C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029028C>T	(Likely) benign	1 lab	ce8fc7bb39
8:17929024 ASAH1 C>A	8	17929024	17929024	C	A	ASAH1	c.174-125G>T	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17929024C>A	(Likely) benign	1 lab	ce9204748a
14:77923430 VIPAS39 C>G	14	77923430	77923430	C	G	VIPAS39	c.-1+8G>C	NM_022067.4	NP_071350.2:p.?	NC_000014.8:g.77923430C>G	(Likely) benign	1 lab	ce934b7d19
20:62076768 KCNQ2 G>A	20	62076768	62076768	G	A	KCNQ2	c.388-51C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62076768G>A	(Likely) benign	1 lab	ce94214e38
15:90349757 ANPEP C>T	15	90349757	90349757	C	T	ANPEP	c.58G>A	NM_001150.3	NP_001141.2:p.(Val20Met)	NC_000015.9:g.90349757C>T	(Likely) benign	1 lab	ce947ce42a
8:145540349 DGAT1 G>A	8	145540349	145540349	G	A	DGAT1	c.1335C>T	NM_012079.6	NP_036211.2:p.(Gly445=)	NC_000008.10:g.145540349G>A	(Likely) benign	1 lab	ce97b104fc
6:116427506 NT5DC1 CT>C	6	116427506	116427525	CT	C	NT5DC1	c.185+27del	NM_152729.3	NP_689942.2:p.?	NC_000006.11:g.116427525del	(Likely) benign	1 lab	ce99260c05
4:166981211 TLL1 C>T	4	166981211	166981211	C	T	TLL1	c.1878C>T	NM_012464.5	NP_036596.3:p.(Asn626=)	NC_000004.11:g.166981211C>T	(Likely) benign	1 lab	ce9f23be71
18:47398549 MYO5B G>A	18	47398549	47398549	G	A	MYO5B	c.3591C>T	NM_001080467.3	NP_001073936.1:p.(Tyr1197=)	NC_000018.9:g.47398549G>A	(Likely) benign	1 lab	ce9f32755c
1:209963999 IRF6 C>T	1	209963999	209963999	C	T	IRF6	c.901G>A	NM_006147.4	NP_006138.1:p.(Gly301Arg)	NC_000001.10:g.209963999C>T	VUS	1 lab	cea8bd62d8
16:28898954 ATP2A1 A>G	16	28898954	28898954	A	G	ATP2A1	c.839A>G	NM_173201.4	NP_775293.1:p.(Asn280Ser)	NC_000016.9:g.28898954A>G	(Likely) benign	1 lab	ceb2e18856
19:13338180 CACNA1A A>G	19	13338180	13338180	A	G	CACNA1A	c.5643+65T>C	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13338180A>G	(Likely) benign	1 lab	ceb34eda42
9:129458041 LMX1B T>A	9	129458041	129458041	T	A	LMX1B	c.920-77T>A	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129458041T>A	(Likely) benign	1 lab	ceb499e198
15:63336280 TPM1 C>G	15	63336280	63336280	C	G	TPM1	c.169C>G	NM_001018004.2	NP_001018004.1:p.(Leu57Val)	NC_000015.9:g.63336280C>G	VUS	1 lab	ceb73c761c
8:13258990 DLC1 G>A	8	13258990	13258990	G	A	DLC1	c.1162C>T	NM_182643.3	NP_872584.2:p.(Arg388Trp)	NC_000008.10:g.13258990G>A	(Likely) benign	1 lab	ceb8b0be5b
2:166168503 SCN2A A>G	2	166168503	166168503	A	G	SCN2A	c.971-32A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166168503A>G	(Likely) benign	1 lab	ceb8f27012
10:78755461 KCNMA1 C>T	10	78755461	78755461	C	T	KCNMA1	c.2104+16264G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78755461C>T	(Likely) benign	1 lab	cebe97ec12
4:110670638 CFI T>C	4	110670638	110670638	T	C	CFI	c.1044+17A>G	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110670638T>C	(Likely) benign	1 lab	cec97c8b20
11:47362752 MYBPC3 C>T	11	47362752	47362752	C	T	MYBPC3	c.1834G>A	NM_000256.3	NP_000247.2:p.(Ala612Thr)	NC_000011.9:g.47362752C>T	VUS	1 lab	ceca57748f
12:42862519 PRICKLE1 A>G	12	42862519	42862519	A	G	PRICKLE1	c.497T>C	NM_153026.3	NP_694571.2:p.(Val166Ala)	NC_000012.11:g.42862519A>G	(Likely) pathogenic	1 lab	cece5076d4
17:27065703 NEK8 A>C	17	27065703	27065703	A	C	NEK8	c.1237A>C	NM_178170.3	NP_835464.1:p.(Met413Leu)	NC_000017.10:g.27065703A>C	(Likely) benign	1 lab	cecfb89c07
19:45860507 ERCC2 GCC>G	19	45860507	45860510	GCC	G	ERCC2	c.1479+19_1479+20del	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45860509_45860510del	(Likely) benign	1 lab	ced0ef32ef
17:7452835 TNFSF12 G>A	17	7452835	7452835	G	A	TNFSF12	c.204G>A	NM_003809.3	NP_003800.1:p.(Pro68=)	NC_000017.10:g.7452835G>A	(Likely) benign	1 lab	ced3278b5a
X:153297644 MECP2 T>C	X	153297644	153297644	T	C	MECP2	c.377+14A>G	NM_004992.3	NP_004983.1:p.?	NC_000023.10:g.153297644T>C	(Likely) benign	1 lab	ced5c1d3bf
6:52101903 IL17F G>A	6	52101903	52101903	G	A	IL17F	c.318C>T	NM_052872.3	NP_443104.1:p.(Gly106=)	NC_000006.11:g.52101903G>A	(Likely) benign	1 lab	ced71b3d4e
3:58094242 FLNB G>A	3	58094242	58094242	G	A	FLNB	c.1999G>A	NM_001457.4	NP_001448.2:p.(Glu667Lys)	NC_000003.11:g.58094242G>A	VUS	1 lab	d82d461d8c
1:196762608 CFHR3 C>A	1	196762608	196762608	C	A	CFHR3	c.958C>A	NM_021023.5	NP_066303.2:p.(Arg320=)	NC_000001.10:g.196762608C>A	(Likely) benign	1 lab	cedfd19339
12:110013809 MVK CT>C	12	110013809	110013810	CT	C	MVK	c.86del	NM_000431.4	NP_000422.1:p.(Leu29ArgfsTer5)	NC_000012.11:g.110013810del	(Likely) pathogenic	1 lab	cee3db080f
X:154091426 F8 C>T	X	154091426	154091426	C	T	F8	c.6506G>A	NM_000132.3	NP_000123.1:p.(Arg2169His)	NC_000023.10:g.154091426C>T	(Likely) pathogenic	1 lab	cee4388286
7:138394492 ATP6V0A4 G>A	7	138394492	138394492	G	A	ATP6V0A4	c.2306C>T	NM_020632.3	NP_065683.2:p.(Thr769Met)	NC_000007.13:g.138394492G>A	(Likely) benign	1 lab	cee5b5816b
4:187518072 FAT1 G>A	4	187518072	187518072	G	A	FAT1	c.12622C>T	NM_005245.4	NP_005236.2:p.(Arg4208Trp)	NC_000004.11:g.187518072G>A	(Likely) benign	1 lab	cee7bedafd
2:31756627 SRD5A2 A>AGGAAGGGCATTTAATTCCAAAAAATGAAG	2	31756627	31756631	A	AGGAAGGGCATTTAATTCCAAAAAATGAAG	SRD5A2	c.446-86_446-85insCTTCATTTTTTGGAATTAAATGCCCTTCC	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31756630_31756631insAGGGCATTTAATTCCAAAAAATGAAGGGA	(Likely) benign	1 lab	ceea15e0da
10:103826648 HPS6 G>A	10	103826648	103826648	G	A	HPS6	c.1417G>A	NM_024747.5	NP_079023.2:p.(Val473Met)	NC_000010.10:g.103826648G>A	(Likely) benign	1 lab	cef421c782
1:158583511 SPTA1 C>T	1	158583511	158583511	C	T	SPTA1	c.6989G>A	NM_003126.3	NP_003117.2:p.(Arg2330Lys)	NC_000001.10:g.158583511C>T	(Likely) pathogenic	1 lab	cef45f0a92
8:133144346 KCNQ3 A>G	8	133144346	133144346	A	G	KCNQ3	c.1884+81T>C	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133144346A>G	(Likely) benign	1 lab	cef7b90a76
15:42111846 MAPKBP1 C>T	15	42111846	42111846	C	T	MAPKBP1	c.2497C>T	NM_001128608.2	NP_001122080.1:p.(Arg833Trp)	NC_000015.9:g.42111846C>T	(Likely) benign	1 lab	cef82231bf
5:137221909 MYOT T>C	5	137221909	137221909	T	C	MYOT	c.1190+7T>C	NM_006790.2	NP_006781.1:p.?	NC_000005.9:g.137221909T>C	(Likely) benign	1 lab	cef89c0268
7:77694979 MAGI2 C>T	7	77694979	77694979	C	T	MAGI2	c.3706+13285G>A	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77694979C>T	(Likely) benign	1 lab	cefc70440e
14:65216688 SPTB G>A	14	65216688	65216688	G	A	SPTB	c.6776+11C>T	NM_001355436.2	NP_001342365.1:p.?	NC_000014.8:g.65216688G>A	(Likely) benign	1 lab	cefcbe414d
1:164532460 PBX1 G>GT	1	164532460	164532463	G	GT	PBX1	c.192-12dup	NM_002585.3	NP_002576.1:p.?	NC_000001.10:g.164532463dup	(Likely) benign	1 lab	cf030df17b
9:140129115 SLC34A3 G>T	9	140129115	140129115	G	T	SLC34A3	c.1267G>T	NM_080877.2	NP_543153.1:p.(Gly423Cys)	NC_000009.11:g.140129115G>T	(Likely) pathogenic	1 lab	cf05e11fa4
22:32205600 DEPDC5 G>T	22	32205600	32205600	G	T	DEPDC5	c.1291G>T	NM_001242896.3	NP_001229825.1:p.(Ala431Ser)	NC_000022.10:g.32205600G>T	(Likely) benign	1 lab	cf09a77191
14:45515923 TOGARAM1 G>A	14	45515923	45515923	G	A	TOGARAM1	c.4313+17G>A	NM_001308120.2	NP_001295049.1:p.?	NC_000014.8:g.45515923G>A	(Likely) benign	1 lab	cf106c044f
16:3299792 MEFV C>T	16	3299792	3299792	C	T	MEFV	c.911-12G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299792C>T	(Likely) benign	1 lab	cf140cd551
5:161524939 GABRG2 TA>T	5	161524939	161524943	TA	T	GABRG2	c.548+79del	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161524943del	(Likely) benign	1 lab	cf1611751a
16:2152426 PKD1 C>G	16	2152426	2152426	C	G	PKD1	c.9157G>C	NM_001009944.2	NP_001009944.2:p.(Ala3053Pro)	NC_000016.9:g.2152426C>G	(Likely) pathogenic	1 lab	cf1856b8b0
15:63353983 TPM1 A>T	15	63353983	63353983	A	T	TPM1	c.635A>T	NM_001018004.2	NP_001018004.1:p.(Glu212Val)	NC_000015.9:g.63353983A>T	VUS	1 lab	cf191696eb
13:39262953 FREM2 A>G	13	39262953	39262953	A	G	FREM2	c.1472A>G	NM_207361.6	NP_997244.4:p.(His491Arg)	NC_000013.10:g.39262953A>G	VUS	1 lab	cf193bcf33
2:47703583 MSH2 G>A	2	47703583	47703583	G	A	MSH2	c.2083G>A	NM_000251.2	NP_000242.1:p.(Val695Met)	NC_000002.11:g.47703583G>A	(Likely) pathogenic	1 lab	cf1c11a4ee
21:36421331 RUNX1 T>C	21	36421331	36421331	T	C	RUNX1	c.-59-76A>G	NM_001754.4	NP_001745.2:p.?	NC_000021.8:g.36421331T>C	(Likely) benign	1 lab	cf1fb4dc51
3:123376241 MYLK G>C	3	123376241	123376241	G	C	MYLK	c.4020C>G	NM_053025.3	NP_444253.3:p.(Ala1340=)	NC_000003.11:g.123376241G>C	(Likely) benign	1 lab	cf1fb5c811
X:99663515 PCDH19 G>A	X	99663515	99663515	G	A	PCDH19	c.81C>T	NM_001184880.2	NP_001171809.1:p.(Tyr27=)	NC_000023.10:g.99663515G>A	(Likely) benign	1 lab	cf20dbe5fd
X:70348182 MED12 C>T	X	70348182	70348182	C	T	MED12	c.3246C>T	NM_005120.3	NP_005111.2:p.(Thr1082=)	NC_000023.10:g.70348182C>T	(Likely) benign	1 lab	d82de74fb8
3:192445251 FGF12 A>AT	3	192445251	192445270	A	AT	FGF12	c.-131+21dup	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192445270dup	(Likely) benign	1 lab	cf227bc5a5
1:160163625 CASQ1 G>A	1	160163625	160163625	G	A	CASQ1	c.453G>A	NM_001231.5	NP_001222.3:p.(Glu151=)	NC_000001.10:g.160163625G>A	(Likely) benign	1 lab	cf2461ae46
13:48954187 RB1 A>G	13	48954187	48954187	A	G	RB1	c.1390-2A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954187A>G	(Likely) pathogenic	1 lab	d832466ab9
6:7565681 DSP CGAG>C	6	7565681	7565693	CGAG	C	DSP	c.877_879del	NM_004415.4	NP_004406.2:p.(Glu293del)	NC_000006.11:g.7565691_7565693del	VUS	1 lab	cf2842fbd8
8:100168680 VPS13B C>G	8	100168680	100168680	C	G	VPS13B	c.2014-97C>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100168680C>G	(Likely) benign	1 lab	cf35f5aee6
1:235993742 LYST CA>C	1	235993742	235993752	CA	C	LYST	c.-7-19del	NM_000081.4	NP_000072.2:p.?	NC_000001.10:g.235993752del	(Likely) benign	1 lab	cf3b114bb6
10:21141578 NEBL G>A	10	21141578	21141578	G	A	NEBL	c.904C>T	NM_006393.2	NP_006384.1:p.(Arg302Ter)	NC_000010.10:g.21141578G>A	VUS	1 lab	cf3f132d33
1:192780675 RGS2 C>T	1	192780675	192780675	C	T	RGS2	c.585C>T	NM_002923.4	NP_002914.1:p.(Tyr195=)	NC_000001.10:g.192780675C>T	(Likely) benign	1 lab	cf420edee1
11:65306874 LTBP3 C>T	11	65306874	65306874	C	T	LTBP3	c.3685G>A	NM_001130144.2	NP_001123616.1:p.(Val1229Met)	NC_000011.9:g.65306874C>T	(Likely) benign	1 lab	cf99baa107
19:7620478 PNPLA6 C>A	19	7620478	7620478	C	A	PNPLA6	c.2823-15C>A	NM_006702.5	NP_006693.3:p.?	NC_000019.9:g.7620478C>A	(Likely) benign	1 lab	cf43b1cdae
15:73028218 BBS4 G>A	15	73028218	73028218	G	A	BBS4	c.1159G>A	NM_033028.4	NP_149017.2:p.(Glu387Lys)	NC_000015.9:g.73028218G>A	(Likely) benign	1 lab	cf6b249051
1:228346587 GJC2 C>A	1	228346587	228346587	C	A	GJC2	c.1128C>A	NM_020435.4	NP_065168.2:p.(Gly376=)	NC_000001.10:g.228346587C>A	(Likely) benign	1 lab	cf528e7b34
15:86201772 AKAP13 A>T	15	86201772	86201772	A	T	AKAP13	c.4750A>T	NM_007200.5	NP_009131.2:p.(Met1584Leu)	NC_000015.9:g.86201772A>T	VUS	1 lab	cf57bb6f18
2:233944121 INPP5D T>C	2	233944121	233944121	T	C	INPP5D	c.198+13T>C	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.233944121T>C	(Likely) benign	1 lab	cf598060ff
16:67470052 HSD11B2 G>GC	16	67470052	67470061	G	GC	HSD11B2	c.664+16dup	NM_000196.4	NP_000187.3:p.?	NC_000016.9:g.67470061dup	(Likely) benign	1 lab	cf5c5196e4
X:128922469 SASH3 G>T	X	128922469	128922469	G	T	SASH3	c.216G>T	NM_018990.4	NP_061863.1:p.(Leu72=)	NC_000023.10:g.128922469G>T	(Likely) benign	1 lab	cf5e7a3490
18:34156527 FHOD3 T>C	18	34156527	34156527	T	C	FHOD3	c.606+19T>C	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34156527T>C	(Likely) benign	1 lab	cf5ee2e3f4
10:69881660 MYPN C>T	10	69881660	69881660	C	T	MYPN	c.465C>T	NM_032578.3	NP_115967.2:p.(Ala155=)	NC_000010.10:g.69881660C>T	(Likely) benign	1 lab	cf60f2b016
4:79295156 FRAS1 A>G	4	79295156	79295156	A	G	FRAS1	c.3011-109A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79295156A>G	(Likely) benign	1 lab	cf646a2a1c
10:15713609 ITGA8 A>G	10	15713609	15713609	A	G	ITGA8	c.840T>C	NM_003638.3	NP_003629.2:p.(Ser280=)	NC_000010.10:g.15713609A>G	(Likely) benign	1 lab	cf64825c02
5:89981461 ADGRV1 T>A	5	89981461	89981461	T	A	ADGRV1	c.6275-136T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89981461T>A	(Likely) benign	1 lab	cf65c7c3dd
11:47869855 NUP160 C>A	11	47869855	47869855	C	A	NUP160	c.118G>T	NM_015231.2	NP_056046.1:p.(Ala40Ser)	NC_000011.9:g.47869855C>A	(Likely) benign	1 lab	cf6aaa3c42
16:81124152 GCSH A>G	16	81124152	81124152	A	G	GCSH	c.228+54T>C	NM_004483.4	NP_004474.2:p.?	NC_000016.9:g.81124152A>G	(Likely) benign	1 lab	cf6dbac308
5:140953193 DIAPH1 G>C	5	140953193	140953193	G	C	DIAPH1	c.2224C>G	NM_005219.5	NP_005210.3:p.(Pro742Ala)	NC_000005.9:g.140953193G>C	VUS	1 lab	d839d115a6
4:187627958 FAT1 C>T	4	187627958	187627958	C	T	FAT1	c.3024G>A	NM_005245.4	NP_005236.2:p.(Lys1008=)	NC_000004.11:g.187627958C>T	(Likely) benign	1 lab	cf7642792d
17:61685355 TACO1 T>C	17	61685355	61685355	T	C	TACO1	c.887T>C	NM_016360.4	NP_057444.2:p.(Ile296Thr)	NC_000017.10:g.61685355T>C	VUS	1 lab	d83bb8f19d
4:169606648 PALLD A>T	4	169606648	169606648	A	T	PALLD	c.1273A>T	NM_001166108.2	NP_001159580.1:p.(Thr425Ser)	NC_000004.11:g.169606648A>T	(Likely) benign	1 lab	cf82941efc
1:155264297 PKLR A>G	1	155264297	155264297	A	G	PKLR	c.941T>C	NM_000298.6	NP_000289.1:p.(Ile314Thr)	NC_000001.10:g.155264297A>G	(Likely) pathogenic	1 lab	cf82c84eec
6:160199687 ACAT2 T>C	6	160199687	160199687	T	C	ACAT2	c.1024-4T>C	NM_005891.3	NP_005882.2:p.?	NC_000006.11:g.160199687T>C	(Likely) benign	1 lab	d83c9b77c1
8:102631881 GRHL2 C>T	8	102631881	102631881	C	T	GRHL2	c.1213C>T	NM_024915.4	NP_079191.2:p.(Pro405Ser)	NC_000008.10:g.102631881C>T	VUS	1 lab	d83d78c295
11:45970434 MISSING C>T	11	45970434	45970434	C	T	MISSING				NC_000011.9:g.45970434C>T	(Likely) benign	1 lab	cf8edbc1e2
1:10399812 KIF1B A>T	1	10399812	10399812	A	T	KIF1B	c.3285-15A>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10399812A>T	(Likely) benign	1 lab	cf93ed2af7
9:14841387 FREM1 C>G	9	14841387	14841387	C	G	FREM1	c.1881+58G>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14841387C>G	(Likely) benign	1 lab	cf941e19e2
9:734839 KANK1 A>C	9	734839	734839	A	C	KANK1	c.3333+4A>C	NM_015158.4	NP_055973.2:p.?	NC_000009.11:g.734839A>C	(Likely) benign	1 lab	cf9a520a69
17:42328621 SLC4A1 G>A	17	42328621	42328621	G	A	SLC4A1	c.2561C>T	NM_000342.4	NP_000333.1:p.(Pro854Leu)	NC_000017.10:g.42328621G>A	(Likely) benign	1 lab	cfa221dc2d
7:128484150 FLNC C>T	7	128484150	128484150	C	T	FLNC	c.3022C>T	NM_001458.4	NP_001449.3:p.(Arg1008Cys)	NC_000007.13:g.128484150C>T	VUS	1 lab	cfa3d0c8f5
13:39435557 FREM2 T>TTC	13	39435557	39435559	T	TTC	FREM2	c.7520-10_7520-9insCT	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435558_39435559insCT	(Likely) benign	1 lab	cfa714af22
19:48918142 GRIN2D C>T	19	48918142	48918142	C	T	GRIN2D	c.1434C>T	NM_000836.2	NP_000827.2:p.(Arg478=)	NC_000019.9:g.48918142C>T	(Likely) benign	1 lab	cfaa11555f
1:158655080 SPTA1 G>C	1	158655080	158655080	G	C	SPTA1	c.82C>G	NM_003126.3	NP_003117.2:p.(Arg28Gly)	NC_000001.10:g.158655080G>C	(Likely) pathogenic	1 lab	cfaabe945b
12:6442983 TNFRSF1A C>G	12	6442983	6442983	C	G	TNFRSF1A	c.242G>C	NM_001065.3	NP_001056.1:p.(Cys81Ser)	NC_000012.11:g.6442983C>G	(Likely) pathogenic	1 lab	cfb0c649ac
1:235964317 LYST C>T	1	235964317	235964317	C	T	LYST	c.3793G>A	NM_000081.3	NP_000072.2:p.(Glu1265Lys)	NC_000001.10:g.235964317C>T	(Likely) benign	1 lab	cfb3cf7675
2:58392880 FANCL T>C	2	58392880	58392880	T	C	FANCL	c.670A>G	NM_018062.3	NP_060532.2:p.(Thr224Ala)	NC_000002.11:g.58392880T>C	(Likely) benign	1 lab	cfb59f2104
6:7580500 DSP C>T	6	7580500	7580500	C	T	DSP	c.4077C>T	NM_004415.2	NP_004406.2:p.(Ile1359=)	NC_000006.11:g.7580500C>T	(Likely) benign	1 lab	cfb5a26b51
22:32198968 DEPDC5 G>A	22	32198968	32198968	G	A	DEPDC5	c.1081+144G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32198968G>A	(Likely) benign	1 lab	cfb6ca6458
19:36342518 NPHS1 C>T	19	36342518	36342518	C	T	NPHS1	c.115G>A	NM_004646.3	NP_004637.1:p.(Glu39Lys)	NC_000019.9:g.36342518C>T	(Likely) benign	1 lab	cfb8d19fea
17:61554669 ACE G>A	17	61554669	61554669	G	A	ACE	c.214G>A	NM_000789.4	NP_000780.1:p.(Asp72Asn)	NC_000017.10:g.61554669G>A	(Likely) benign	1 lab	cfc04e63a3
14:65240934 SPTB C>T	14	65240934	65240934	C	T	SPTB	c.4973+181G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65240934C>T	(Likely) benign	1 lab	cfc4141a28
10:131639306 EBF3 T>TCC	10	131639306	131639315	T	TCC	EBF3	c.1346-12_1346-11dup	NM_001005463.3	NP_001005463.1:p.?	NC_000010.10:g.131639314_131639315dup	(Likely) benign	1 lab	cfc4e0e348
7:98987580 ARPC1B G>T	7	98987580	98987580	G	T	ARPC1B	c.445G>T	NM_005720.4	NP_005711.1:p.(Asp149Tyr)	NC_000007.13:g.98987580G>T	(Likely) benign	1 lab	cfc585e000
2:145157533 ZEB2 G>A	2	145157533	145157533	G	A	ZEB2	c.1221C>T	NM_014795.4	NP_055610.1:p.(His407=)	NC_000002.11:g.145157533G>A	(Likely) benign	1 lab	cfce5eb39c
1:155264127 PKLR C>G	1	155264127	155264127	C	G	PKLR	c.1015G>C	NM_000298.6	NP_000289.1:p.(Asp339His)	NC_000001.10:g.155264127C>G	(Likely) pathogenic	1 lab	cfd0de1bbd
X:153215740 HCFC1 G>A	X	153215740	153215740	G	A	HCFC1	c.5958C>T	NM_005334.3	NP_005325.2:p.(Arg1986=)	NC_000023.10:g.153215740G>A	(Likely) benign	1 lab	cfd12c3e56
21:45713809 AIRE C>T	21	45713809	45713809	C	T	AIRE				NC_000021.8:g.45713809C>T	(Likely) benign	1 lab	cfd3f9c7f9
21:47423706 COL6A1 G>A	21	47423706	47423706	G	A	COL6A1	c.2866G>A	NM_001848.2	NP_001839.2:p.(Glu956Lys)	NC_000021.8:g.47423706G>A	(Likely) benign	1 lab	cfd5245748
22:51159758 SHANK3 CAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGG>C	22	51159758	51159830	CAGCCTGGATTCCTGTGCCTGCTCGCAGGGAGGCAGAGAAGGTCCCCCGGGAGGAGCGGAAGTCACCCGAGG	C	SHANK3	c.3724_3794del	NM_001372044.2	NP_001358973.1:p.(Ala1242GlnfsTer105)	NC_000022.10:g.51159760_51159830del	(Likely) pathogenic	1 lab	d848106e4a
9:138676145 KCNT1 T>C	9	138676145	138676145	T	C	KCNT1	c.2943+174T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676145T>C	(Likely) benign	1 lab	cfde1c7456
3:38640530 SCN5A C>T	3	38640530	38640530	C	T	SCN5A	c.1902G>A	NM_198056.2	NP_932173.1:p.(Ser634=)	NC_000003.11:g.38640530C>T	(Likely) benign	1 lab	cfdfe2df1d
4:88940615 PKD2 TG>T	4	88940615	88940619	TG	T	PKD2	c.605del	NM_000297.4	NP_000288.1:p.(Gly202GlufsTer31)	NC_000004.11:g.88940619del	(Likely) pathogenic	1 lab	cfe35c979c
1:237713835 RYR2 T>G	1	237713835	237713835	T	G	RYR2	c.3067-9T>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237713835T>G	(Likely) benign	1 lab	cfe5e87668
6:32818236 TAP1 G>A	6	32818236	32818236	G	A	TAP1	c.1289C>T	NM_000593.5	NP_000584.2:p.(Ala430Val)	NC_000006.11:g.32818236G>A	(Likely) benign	1 lab	cfe921f86c
2:239306173 TRAF3IP1 C>T	2	239306173	239306173	C	T	TRAF3IP1	c.1763C>T	NM_015650.4	NP_056465.2:p.(Thr588Met)	NC_000002.11:g.239306173C>T	(Likely) benign	1 lab	cfea9e1412
21:45713716 AIRE G>A	21	45713716	45713716	G	A	AIRE				NC_000021.8:g.45713716G>A	(Likely) benign	1 lab	cff27a65db
13:43148522 TNFSF11 G>A	13	43148522	43148522	G	A	TNFSF11	c.83G>A	NM_003701.4	NP_003692.1:p.(Gly28Asp)	NC_000013.10:g.43148522G>A	(Likely) benign	1 lab	cff66fa7c9
19:13386651 CACNA1A C>A	19	13386651	13386651	C	A	CACNA1A	c.4001+13G>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13386651C>A	(Likely) benign	1 lab	cff6ca7f85
5:137222898 MYOT T>A	5	137222898	137222898	T	A	MYOT	c.1325-4T>A	NM_006790.2	NP_006781.1:p.?	NC_000005.9:g.137222898T>A	(Likely) benign	1 lab	d00df7b5a6
20:6064710 FERMT1 A>G	20	6064710	6064710	A	G	FERMT1	c.1695T>C	NM_017671.5	NP_060141.3:p.(Phe565=)	NC_000020.10:g.6064710A>G	(Likely) benign	1 lab	d848c9a3f6
1:198678834 PTPRC A>G	1	198678834	198678834	A	G	PTPRC	c.1052A>G	NM_002838.5	NP_002829.3:p.(Asn351Ser)	NC_000001.10:g.198678834A>G	(Likely) benign	1 lab	d014f1ab4e
16:1258920 CACNA1H G>T	16	1258920	1258920	G	T	CACNA1H	c.3364-112G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1258920G>T	(Likely) benign	1 lab	d0168f3cda
2:166243215 SCN2A T>A	2	166243215	166243215	T	A	SCN2A	c.4552-41T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243215T>A	(Likely) benign	1 lab	d018ffaf5d
11:108205820 ATM G>A	11	108205820	108205820	G	A	ATM	c.8135G>A	NM_000051.4	NP_000042.3:p.(Arg2712Lys)	NC_000011.9:g.108205820G>A	VUS	1 lab	d84b8f5b19
1:160090682 ATP1A2 CCTT>C	1	160090682	160090686	CCTT	C	ATP1A2	c.13-12_13-10del	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160090684_160090686del	(Likely) benign	1 lab	d01ba73728
2:110920591 NPHP1 T>G	2	110920591	110920591	T	G	NPHP1	c.1027+34A>C	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110920591T>G	(Likely) benign	1 lab	d01dd21427
3:123368045 MYLK G>T	3	123368045	123368045	G	T	MYLK	c.4289-4C>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123368045G>T	(Likely) benign	1 lab	d021fcc927
1:234744755 IRF2BP2 G>A	1	234744755	234744755	G	A	IRF2BP2	c.486C>T	NM_182972.2	NP_892017.2:p.(Phe162=)	NC_000001.10:g.234744755G>A	(Likely) benign	1 lab	d02640198a
2:189974961 COL5A2 A>T	2	189974961	189974961	A	T	COL5A2	c.312T>A	NM_000393.5	NP_000384.2:p.(Asn104Lys)	NC_000002.11:g.189974961A>T	VUS	1 lab	d02a50bcb0
7:69599638 AUTS2 A>C	7	69599638	69599638	A	C	AUTS2	c.660+81A>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69599638A>C	(Likely) benign	1 lab	d02bf9111f
21:36164891 RUNX1 T>C	21	36164891	36164891	T	C	RUNX1	c.903A>G	NM_001001890.3	NP_001001890.1:p.(Thr301=)	NC_000021.8:g.36164891T>C	(Likely) benign	1 lab	d02dbc5bcb
17:46022786 PNPO T>C	17	46022786	46022786	T	C	PNPO	c.364-139T>C	NM_018129.4	NP_060599.1:p.?	NC_000017.10:g.46022786T>C	(Likely) benign	1 lab	d03627f1ac
11:118380782 KMT2A T>A	11	118380782	118380782	T	A	KMT2A	c.11020T>A	NM_001197104.2	NP_001184033.1:p.(Phe3674Ile)	NC_000011.9:g.118380782T>A	VUS	1 lab	d8516d41f1
9:95481489 BICD2 C>T	9	95481489	95481489	C	T	BICD2	c.1438G>A	NM_001003800.2	NP_001003800.1:p.(Ala480Thr)	NC_000009.11:g.95481489C>T	(Likely) benign	1 lab	d037f776fd
16:50745324 NOD2 T>C	16	50745324	50745324	T	C	NOD2	c.1502T>C	NM_022162.1	NP_071445.1:p.(Leu501Pro)	NC_000016.9:g.50745324T>C	VUS	1 lab	d039290757
6:152536152 SYNE1 C>T	6	152536152	152536152	C	T	SYNE1	c.22235G>A	NM_182961.4	NP_892006.3:p.(Arg7412His)	NC_000006.11:g.152536152C>T	(Likely) benign	1 lab	d03d515a6d
X:100629554 BTK T>C	X	100629554	100629554	T	C	BTK	c.210A>G	NM_000061.2	NP_000052.1:p.(Glu70=)	NC_000023.10:g.100629554T>C	(Likely) benign	1 lab	d040c01fa4
10:96342742 HELLS A>G	10	96342742	96342742	A	G	HELLS	c.1252A>G	NM_018063.5	NP_060533.2:p.(Thr418Ala)	NC_000010.10:g.96342742A>G	(Likely) benign	1 lab	d044445747
2:215657178 BARD1 T>G	2	215657178	215657178	T	G	BARD1	c.216-9A>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657178T>G	(Likely) benign	1 lab	d045bc5cca
8:100831048 VPS13B A>G	8	100831048	100831048	A	G	VPS13B	c.8628A>G	NM_017890.4	NP_060360.3:p.(Gly2876=)	NC_000008.10:g.100831048A>G	(Likely) benign	1 lab	d0488c77ed
8:2017593 MYOM2 G>A	8	2017593	2017593	G	A	MYOM2	c.770G>A	NM_003970.4	NP_003961.3:p.(Arg257His)	NC_000008.10:g.2017593G>A	(Likely) benign	1 lab	d04a4c8d8f
5:170837539 NPM1 A>AGTCT	5	170837539	170837541	A	AGTCT	NPM1	c.856_857insTCTG	NM_002520.6	NP_002511.1:p.(Asp286ValfsTer2)	NC_000005.9:g.170837540_170837541insTCTG	VUS	1 lab	d0506d1cbe
9:138662391 KCNT1 G>A	9	138662391	138662391	G	A	KCNT1	c.1769+98G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662391G>A	(Likely) benign	1 lab	d050857fc8
10:17110120 CUBN T>C	10	17110120	17110120	T	C	CUBN	c.2951A>G	NM_001081.3	NP_001072.2:p.(Asn984Ser)	NC_000010.10:g.17110120T>C	(Likely) benign	1 lab	d051876823
22:40825598 MRTFA G>C	22	40825598	40825598	G	C	MRTFA	c.601+12C>G	NM_020831.6	NP_065882.2:p.?	NC_000022.10:g.40825598G>C	(Likely) benign	1 lab	d055f8e8ba
1:1372554 VWA1 C>T	1	1372554	1372554	C	T	VWA1	c.321C>T	NM_022834.5	NP_073745.2:p.(Arg107=)	NC_000001.10:g.1372554C>T	(Likely) benign	1 lab	d05be6f0f9
8:72129098 EYA1 G>T	8	72129098	72129098	G	T	EYA1	c.1200-11C>A	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72129098G>T	(Likely) benign	1 lab	d05be930d4
1:29439016 EPB41 T>A	1	29439016	29439016	T	A	EPB41	c.1827+56T>A	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29439016T>A	(Likely) benign	1 lab	d05d1a7659
12:110029140 MVK C>T	12	110029140	110029140	C	T	MVK	c.863C>T	NM_000431.2	NP_000422.1:p.(Pro288Leu)	NC_000012.11:g.110029140C>T	VUS	1 lab	d063b3d116
1:206944645 IL10 T>C	1	206944645	206944645	T	C	IL10	c.225+56A>G	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944645T>C	(Likely) benign	1 lab	d065bf0612
1:6530387 PLEKHG5 A>G	1	6530387	6530387	A	G	PLEKHG5	c.1709T>C	NM_198681.4	NP_941374.3:p.(Leu570Ser)	NC_000001.10:g.6530387A>G	VUS	1 lab	2576760a08
14:23883107 MYH7 G>A	14	23883107	23883107	G	A	MYH7	c.5656-5C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23883107G>A	(Likely) benign	1 lab	d06d1fc64d
19:13339417 CACNA1A GAGAT>G	19	13339417	13339422	GAGAT	G	CACNA1A	c.5547-1080_5547-1077del	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13339419_13339422del	(Likely) benign	1 lab	d0706fe57b
5:79950706 MSH3 GCTGCAGCGGC>G	5	79950706	79950717	GCTGCAGCGGC	G	MSH3	c.162_171del	NM_002439.5	NP_002430.3:p.(Ala55GlnfsTer22)	NC_000005.9:g.79950708_79950717del	(Likely) benign	1 lab	d8545c0780
17:42335397 SLC4A1 G>A	17	42335397	42335397	G	A	SLC4A1	c.1239C>T	NM_000342.4	NP_000333.1:p.(Tyr413=)	NC_000017.10:g.42335397G>A	(Likely) benign	1 lab	d071780ec6
4:151207098 LRBA C>G	4	151207098	151207098	C	G	LRBA	c.8103G>C	NM_001199282.2	NP_001186211.2:p.(Leu2701Phe)	NC_000004.11:g.151207098C>G	(Likely) benign	1 lab	d07bf462ec
3:13896140 WNT7A A>G	3	13896140	13896140	A	G	WNT7A	c.459T>C	NM_004625.4	NP_004616.2:p.(Ser153=)	NC_000003.11:g.13896140A>G	(Likely) benign	1 lab	d0815c1c18
14:64630123 SYNE2 C>T	14	64630123	64630123	C	T	SYNE2	c.16303C>T	NM_182914.2	NP_878918.2:p.(Leu5435=)	NC_000014.8:g.64630123C>T	(Likely) benign	1 lab	d081933975
10:43597895 RET CCTT>C	10	43597895	43597902	CCTT	C	RET	c.448_450del	NM_020975.6	NP_066124.1:p.(Phe150del)	NC_000010.10:g.43597900_43597902del	VUS	1 lab	d85a52aee9
19:46280799 DMPK C>T	19	46280799	46280799	C	T	DMPK	c.962G>A	NM_001081563.2	NP_001075032.1:p.(Arg321Gln)	NC_000019.9:g.46280799C>T	(Likely) benign	1 lab	d085c443c6
19:13318838 CACNA1A G>A	19	13318838	13318838	G	A	CACNA1A	c.*22C>T	NM_001127221.1	NP_001120693.1:p.?	NC_000019.9:g.13318838G>A	(Likely) benign	1 lab	d086bff9e6
1:36933493 CSF3R G>A	1	36933493	36933493	G	A	CSF3R	c.1794C>T	NM_000760.4	NP_000751.1:p.(Ile598=)	NC_000001.10:g.36933493G>A	(Likely) benign	1 lab	d088ff06b0
14:65263347 SPTB C>T	14	65263347	65263347	C	T	SPTB	c.1269G>A	NM_001024858.3	NP_001020029.1:p.(Leu423=)	NC_000014.8:g.65263347C>T	(Likely) benign	1 lab	d089869f53
17:48267072 COL1A1 C>T	17	48267072	48267072	C	T	COL1A1	c.2635G>A	NM_000088.3	NP_000079.2:p.(Ala879Thr)	NC_000017.10:g.48267072C>T	VUS	1 lab	d08bc7b9db
14:23853634 MYH6 T>G	14	23853634	23853634	T	G	MYH6	c.5565+17A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23853634T>G	(Likely) benign	1 lab	d08d9e8629
9:14759725 FREM1 A>G	9	14759725	14759725	A	G	FREM1	c.5334+45T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14759725A>G	(Likely) benign	1 lab	d08ef3f39d
3:71096192 FOXP1 G>A	3	71096192	71096192	G	A	FOXP1	c.565C>T	NM_001244808.2	NP_001231737.1:p.(Gln189Ter)	NC_000003.11:g.71096192G>A	(Likely) pathogenic	1 lab	d090b8ee38
17:76120954 TMC6 G>A	17	76120954	76120954	G	A	TMC6	c.633+16C>T	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76120954G>A	(Likely) benign	1 lab	d092f51c3b
2:227924836 COL4A4 A>AAAAAC	2	227924836	227924841	A	AAAAAC	COL4A4	c.2164+15_2164+16insGTTTT	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924840_227924841insCAAAA	(Likely) benign	1 lab	d0952bac10
12:111948306 ATXN2 G>A	12	111948306	111948306	G	A	ATXN2	c.1639C>T	NM_002973.4	NP_002964.4:p.(Leu547Phe)	NC_000012.11:g.111948306G>A	(Likely) benign	1 lab	d09559f477
14:76438017 TGFB3 G>A	14	76438017	76438017	G	A	TGFB3	c.397C>T	NM_003239.2	NP_003230.1:p.(Arg133Cys)	NC_000014.8:g.76438017G>A	VUS	1 lab	d0a248ced2
17:4836157 GP1BA C>T	17	4836157	4836157	C	T	GP1BA	c.258C>T	NM_000173.7	NP_000164.5:p.(Leu86=)	NC_000017.10:g.4836157C>T	(Likely) benign	1 lab	d0a741acc3
X:135291532 FHL1 G>C	X	135291532	135291532	G	C	FHL1	c.819G>C	NM_001369326.1	NP_001356255.1:p.(Glu273Asp)	NC_000023.10:g.135291532G>C	VUS	1 lab	d0a799b42b
16:20360198 UMOD C>T	16	20360198	20360198	C	T	UMOD	c.425G>A	NM_003361.3	NP_003352.2:p.(Arg142Gln)	NC_000016.9:g.20360198C>T	(Likely) benign	1 lab	d0a7a596e5
12:2675631 CACNA1C C>A	12	2675631	2675631	C	A	CACNA1C	c.1552C>A	NM_199460.3	NP_955630.3:p.(Arg518Ser)	NC_000012.11:g.2675631C>A	(Likely) pathogenic	1 lab	d0ab21566a
1:16358433 CLCNKA CTG>C	1	16358433	16358437	CTG	C	CLCNKA	c.1756+98_1756+99del	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16358436_16358437del	(Likely) benign	1 lab	d0ad82b82f
19:2116669 AP3D1 G>A	19	2116669	2116669	G	A	AP3D1	c.1936C>T	NM_001261826.3	NP_001248755.1:p.(His646Tyr)	NC_000019.9:g.2116669G>A	(Likely) benign	1 lab	d0addad4da
12:110029008 MVK C>T	12	110029008	110029008	C	T	MVK	c.769-38C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029008C>T	(Likely) benign	1 lab	d0af4b631f
1:247588073 NLRP3 A>C	1	247588073	247588073	A	C	NLRP3	c.1322A>C	NM_001243133.2	NP_001230062.1:p.(Tyr441Ser)	NC_000001.10:g.247588073A>C	VUS	1 lab	d0b48ad143
7:128494206 FLNC G>A	7	128494206	128494206	G	A	FLNC	c.6663G>A	NM_001458.4	NP_001449.3:p.(Val2221=)	NC_000007.13:g.128494206G>A	VUS	1 lab	d0b4b05c0e
1:29323765 EPB41 T>C	1	29323765	29323765	T	C	EPB41	c.720T>C	NM_001376013.1	NP_001362942.1:p.(Cys240=)	NC_000001.10:g.29323765T>C	(Likely) benign	1 lab	d0b7ce630f
22:32293685 DEPDC5 C>T	22	32293685	32293685	C	T	DEPDC5	c.4375+46C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32293685C>T	(Likely) benign	1 lab	d0bedf0b64
12:58197182 AVIL A>G	12	58197182	58197182	A	G	AVIL	c.1818-8T>C	NM_006576.3	NP_006567.3:p.?	NC_000012.11:g.58197182A>G	(Likely) benign	1 lab	d0c4071363
13:32970886 BRCA2 C>T	13	32970886	32970886	C	T	BRCA2	c.9502-149C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32970886C>T	(Likely) benign	1 lab	d0c4dd2527
4:79436888 FRAS1 A>G	4	79436888	79436888	A	G	FRAS1	c.10175-65A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79436888A>G	(Likely) benign	1 lab	d0c7dbc3e9
4:154178549 TRIM2 G>A	4	154178549	154178549	G	A	TRIM2	c.-48-12941G>A	NM_001130067.2	NP_001123539.1:p.?	NC_000004.11:g.154178549G>A	(Likely) benign	1 lab	d0cd757fc6
4:187000164 TLR3 G>A	4	187000164	187000164	G	A	TLR3	c.612G>A	NM_003265.2	NP_003256.1:p.(Leu204=)	NC_000004.11:g.187000164G>A	(Likely) benign	1 lab	d0d5e83900
17:54925480 DGKE C>CATAT	17	54925480	54925496	C	CATAT	DGKE	c.888+67_888+70dup	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54925493_54925496dup	(Likely) benign	1 lab	d0d80f4264
9:738477 KANK1 G>A	9	738477	738477	G	A	KANK1	c.3526G>A	NM_001256877.2	NP_001243806.1:p.(Glu1176Lys)	NC_000009.11:g.738477G>A	(Likely) benign	1 lab	d0da5ea45b
9:79980399 VPS13A A>G	9	79980399	79980399	A	G	VPS13A	c.8235A>G	NM_033305.3	NP_150648.2:p.(Ile2745Met)	NC_000009.11:g.79980399A>G	(Likely) benign	1 lab	d85c1698dd
9:139333300 INPP5E G>C	9	139333300	139333300	G	C	INPP5E	c.572C>G	NM_019892.6	NP_063945.2:p.(Pro191Arg)	NC_000009.11:g.139333300G>C	(Likely) benign	1 lab	d0dbab2159
19:11354499 DOCK6 C>A	19	11354499	11354499	C	A	DOCK6	c.1083G>T	NM_020812.4	NP_065863.2:p.(Leu361Phe)	NC_000019.9:g.11354499C>A	VUS	1 lab	d85c297423
7:2976752 CARD11 C>T	7	2976752	2976752	C	T	CARD11	c.1260G>A	NM_032415.6	NP_115791.3:p.(Glu420=)	NC_000007.13:g.2976752C>T	(Likely) benign	1 lab	d0e392cab6
16:1268376 CACNA1H G>A	16	1268376	1268376	G	A	CACNA1H	c.5612G>A	NM_021098.3	NP_066921.2:p.(Arg1871Gln)	NC_000016.9:g.1268376G>A	(Likely) benign	1 lab	d0e580217a
18:60027236 TNFRSF11A C>T	18	60027236	60027236	C	T	TNFRSF11A	c.528C>T	NM_001278268.2	NP_001265197.1:p.(Ser176=)	NC_000018.9:g.60027236C>T	(Likely) benign	1 lab	d0e89d6d56
16:3077710 BICDL2 CTT>C	16	3077710	3077727	CTT	C	BICDL2	c.*395_*396del	NM_001369667.1	NP_001356596.1:p.?	NC_000016.9:g.3077726_3077727del	(Likely) benign	1 lab	d0e8e61e1d
19:36342507 NPHS1 C>A	19	36342507	36342507	C	A	NPHS1	c.126G>T	NM_004646.3	NP_004637.1:p.(Thr42=)	NC_000019.9:g.36342507C>A	(Likely) benign	1 lab	d0eabd2592
20:43653638 STK4 C>A	20	43653638	43653638	C	A	STK4	c.1172C>A	NM_006282.2	NP_006273.1:p.(Ala391Glu)	NC_000020.10:g.43653638C>A	(Likely) benign	1 lab	d0edc90dc2
2:216286935 FN1 C>G	2	216286935	216286935	C	G	FN1	c.1425G>C	NM_212482.2	NP_997647.1:p.(Gly475=)	NC_000002.11:g.216286935C>G	(Likely) benign	1 lab	d0ef551c23
7:140434586 BRAF G>GAAAAAAAAAAAAAAAAAAAAAAAA	7	140434586	140434597	G	GAAAAAAAAAAAAAAAAAAAAAAAA	BRAF	c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTTT	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAAA	(Likely) benign	1 lab	d0f27f4076
8:145737295 RECQL4 C>T	8	145737295	145737295	C	T	RECQL4	c.3392G>A	NM_004260.3	NP_004251.3:p.(Arg1131Lys)	NC_000008.10:g.145737295C>T	(Likely) benign	1 lab	d0f43f8692
1:200558511 KIF14 T>C	1	200558511	200558511	T	C	KIF14	c.2962-14A>G	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200558511T>C	(Likely) benign	1 lab	d0f92c56f4
7:139572123 TBXAS1 G>A	7	139572123	139572123	G	A	TBXAS1	c.182G>A	NM_001130966.2	NP_001124438.1:p.(Arg61His)	NC_000007.13:g.139572123G>A	(Likely) benign	1 lab	d10011bd95
5:66437979 MAST4 G>A	5	66437979	66437979	G	A	MAST4	c.1964G>A	NM_015183.3	NP_055998.1:p.(Arg655His)	NC_000005.9:g.66437979G>A	VUS	1 lab	d85c47895d
3:3189767 TRNT1 C>T	3	3189767	3189767	C	T	TRNT1	c.1234C>T	NM_182916.3	NP_886552.3:p.(Arg412Ter)	NC_000003.11:g.3189767C>T	(Likely) pathogenic	1 lab	d10276c256
1:92944314 GFI1 C>CAGAGAGAGAGAG	1	92944314	92944351	C	CAGAGAGAGAGAG	GFI1	c.925-16_925-5dup	NM_005263.3	NP_005254.2:p.?	NC_000001.10:g.92944340_92944351dup	(Likely) benign	1 lab	d102e52a44
3:64601103 ADAMTS9 C>T	3	64601103	64601103	C	T	ADAMTS9	c.3083G>A	NM_182920.2	NP_891550.1:p.(Arg1028Gln)	NC_000003.11:g.64601103C>T	(Likely) benign	1 lab	d10628b84f
22:36653390 APOL1 A>G	22	36653390	36653390	A	G	APOL1	c.124A>G	NM_003661.4	NP_003652.2:p.(Thr42Ala)	NC_000022.10:g.36653390A>G	(Likely) benign	1 lab	d107b127c2
2:169820759 ABCB11 A>G	2	169820759	169820759	A	G	ABCB11	c.2135T>C	NM_003742.4	NP_003733.2:p.(Leu712Ser)	NC_000002.11:g.169820759A>G	VUS	1 lab	d107e2c9df
16:56868025 NUP93 A>AC	16	56868025	56868030	A	AC	NUP93	c.1538-10dup	NM_014669.5	NP_055484.3:p.?	NC_000016.9:g.56868030dup	(Likely) benign	1 lab	d10b79603b
1:3328513 PRDM16 G>A	1	3328513	3328513	G	A	PRDM16	c.1752G>A	NM_022114.4	NP_071397.3:p.(Glu584=)	NC_000001.10:g.3328513G>A	(Likely) benign	1 lab	25d5f69e15
6:52101844 IL17F T>C	6	52101844	52101844	T	C	IL17F	c.377A>G	NM_052872.3	NP_443104.1:p.(Glu126Gly)	NC_000006.11:g.52101844T>C	(Likely) benign	1 lab	d10c352a6c
2:179463271 TTN C>T	2	179463271	179463271	C	T	TTN	c.57073G>A	NM_001267550.1	NP_001254479.1:p.(Val19025Ile)	NC_000002.11:g.179463271C>T	(Likely) benign	1 lab	d10f5eaf0f
7:128477331 FLNC A>T	7	128477331	128477331	A	T	FLNC	c.699+20A>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477331A>T	(Likely) benign	1 lab	d1133fad47
8:61654272 CHD7 CT>C	8	61654272	61654273	CT	C	CHD7	c.282del	NM_017780.4	NP_060250.2:p.(Asn96ThrfsTer115)	NC_000008.10:g.61654273del	(Likely) pathogenic	1 lab	d85efcf4db
8:6614680 AGPAT5 A>G	8	6614680	6614680	A	G	AGPAT5	c.870-4A>G	NM_018361.5	NP_060831.2:p.?	NC_000008.10:g.6614680A>G	(Likely) benign	1 lab	d114e345aa
13:52532547 ATP7B A>C	13	52532547	52532547	A	C	ATP7B	c.2255T>G	NM_000053.4	NP_000044.2:p.(Val752Gly)	NC_000013.10:g.52532547A>C	(Likely) pathogenic	1 lab	d115f283ea
17:78155199 CARD14 C>T	17	78155199	78155199	C	T	CARD14	c.-20-19C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78155199C>T	(Likely) benign	1 lab	d11df065da
16:56370656 GNAO1 G>A	16	56370656	56370656	G	A	GNAO1	c.607G>A	NM_020988.3	NP_066268.1:p.(Gly203Arg)	NC_000016.9:g.56370656G>A	(Likely) pathogenic	1 lab	d124a87a22
1:155264974 PKLR C>G	1	155264974	155264974	C	G	PKLR	c.627G>C	NM_000298.6	NP_000289.1:p.(Arg209=)	NC_000001.10:g.155264974C>G	(Likely) benign	1 lab	d12d36f97d
13:35926478 NBEA C>T	13	35926478	35926478	C	T	NBEA	c.6179+18C>T	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.35926478C>T	(Likely) benign	1 lab	d12f1a2634
14:65240949 SPTB C>T	14	65240949	65240949	C	T	SPTB	c.4973+166G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65240949C>T	(Likely) benign	1 lab	d12f36c707
3:25671788 TOP2B C>T	3	25671788	25671788	C	T	TOP2B	c.1548+15G>A	NM_001068.3	NP_001059.2:p.?	NC_000003.11:g.25671788C>T	(Likely) benign	1 lab	d12ffd7c90
16:67680360 CARMIL2 A>G	16	67680360	67680360	A	G	CARMIL2	c.406A>G	NM_001013838.3	NP_001013860.1:p.(Met136Val)	NC_000016.9:g.67680360A>G	(Likely) benign	1 lab	d13027da39
22:32272413 DEPDC5 C>A	22	32272413	32272413	C	A	DEPDC5	c.3805+162C>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32272413C>A	(Likely) benign	1 lab	d134b55749
X:53432548 SMC1A A>G	X	53432548	53432548	A	G	SMC1A	c.1788T>C	NM_006306.3	NP_006297.2:p.(Asp596=)	NC_000023.10:g.53432548A>G	(Likely) benign	1 lab	d136eab140
11:73814404 C2CD3 C>T	11	73814404	73814404	C	T	C2CD3	c.2352G>A	NM_001286577.1	NP_001273506.1:p.(Thr784=)	NC_000011.9:g.73814404C>T	(Likely) benign	1 lab	d138dc72e4
2:149240657 MBD5 GTT>G	2	149240657	149240670	GTT	G	MBD5	c.2519-10_2519-9del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149240669_149240670del	(Likely) benign	1 lab	d13ff1f8c3
5:90021169 ADGRV1 A>C	5	90021169	90021169	A	C	ADGRV1	c.10053+120A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021169A>C	(Likely) benign	1 lab	d142017d33
15:93555541 CHD2 A>G	15	93555541	93555541	A	G	CHD2	c.4593-34A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93555541A>G	(Likely) benign	1 lab	d142443ffa
8:145006220 PLEC G>A	8	145006220	145006220	G	A	PLEC	c.2494-20C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145006220G>A	(Likely) benign	1 lab	d1437d5cbf
8:13162827 DLC1 C>G	8	13162827	13162827	C	G	DLC1	c.1315-16G>C	NM_182643.3	NP_872584.2:p.?	NC_000008.10:g.13162827C>G	(Likely) benign	1 lab	d143ba030e
12:110032885 MVK CCT>C	12	110032885	110032891	CCT	C	MVK	c.943_944del	NM_000431.4	NP_000422.1:p.(Leu315GlyfsTer51)	NC_000012.11:g.110032890_110032891del	(Likely) pathogenic	1 lab	d14479a12a
2:228567046 SLC19A3 T>C	2	228567046	228567046	T	C	SLC19A3	c.-2-10A>G	NM_025243.4	NP_079519.1:p.?	NC_000002.11:g.228567046T>C	(Likely) benign	1 lab	d148f2343b
19:6713459 C3 C>T	19	6713459	6713459	C	T	C3	c.835G>A	NM_000064.2	NP_000055.2:p.(Glu279Lys)	NC_000019.9:g.6713459C>T	(Likely) benign	1 lab	d151768f0e
16:3299679 MEFV C>G	16	3299679	3299679	C	G	MEFV	c.1012G>C	NM_000243.2	NP_000234.1:p.(Val338Leu)	NC_000016.9:g.3299679C>G	VUS	1 lab	d15538b61e
2:179446425 TTN AC>A	2	179446425	179446427	AC	A	TTN	c.66569del	NM_001267550.2	NP_001254479.2:p.(Gly22190ValfsTer6)	NC_000002.11:g.179446427del	(Likely) pathogenic	1 lab	d15da005c7
17:41201364 BRCA1 T>C	17	41201364	41201364	T	C	BRCA1	c.5333-153A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201364T>C	(Likely) benign	1 lab	d167b65524
7:158705770 DYNC2I1 G>A	7	158705770	158705770	G	A	DYNC2I1	c.1685G>A	NM_018051.5	NP_060521.4:p.(Ser562Asn)	NC_000007.13:g.158705770G>A	(Likely) benign	1 lab	d168333c34
12:52314600 ACVRL1 C>T	12	52314600	52314600	C	T	ACVRL1	c.1435C>T	NM_000020.2	NP_000011.2:p.(Arg479Ter)	NC_000012.11:g.52314600C>T	(Likely) pathogenic	1 lab	d16a80aa6b
X:129206407 ELF4 A>G	X	129206407	129206407	A	G	ELF4	c.341-15T>C	NM_001421.3	NP_001412.1:p.?	NC_000023.10:g.129206407A>G	(Likely) benign	1 lab	d16cb832fc
22:31018975 TCN2 T>C	22	31018975	31018975	T	C	TCN2	c.1046T>C	NM_001184726.1	NP_001171655.1:p.(Leu349Ser)	NC_000022.10:g.31018975T>C	(Likely) benign	1 lab	d170357097
9:711327 KANK1 T>C	9	711327	711327	T	C	KANK1	c.561T>C	NM_015158.4	NP_055973.2:p.(Phe187=)	NC_000009.11:g.711327T>C	(Likely) benign	1 lab	d171a71cde
9:740938 KANK1 A>G	9	740938	740938	A	G	KANK1	c.3696+4A>G	NM_015158.4	NP_055973.2:p.?	NC_000009.11:g.740938A>G	(Likely) benign	1 lab	d171fa3aaa
12:6440181 TNFRSF1A T>A	12	6440181	6440181	T	A	TNFRSF1A	c.552-89A>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6440181T>A	(Likely) benign	1 lab	d173d5bc22
6:112479962 LAMA4 G>C	6	112479962	112479962	G	C	LAMA4	c.1789C>G	NM_001105206.3	NP_001098676.2:p.(Leu597Val)	NC_000006.11:g.112479962G>C	VUS	1 lab	d17d935b2a
X:48934434 WDR45 C>T	X	48934434	48934434	C	T	WDR45	c.236-22G>A	NM_007075.4	NP_009006.2:p.?	NC_000023.10:g.48934434C>T	(Likely) benign	1 lab	d864e250d1
19:36637204 CAPNS1 C>T	19	36637204	36637204	C	T	CAPNS1	c.711C>T	NM_001749.4	NP_001740.1:p.(Asp237=)	NC_000019.9:g.36637204C>T	(Likely) benign	1 lab	d18394ea10
19:2137711 AP3D1 G>A	19	2137711	2137711	G	A	AP3D1	c.273+15C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2137711G>A	(Likely) benign	1 lab	d183b9296a
2:189868717 COL3A1 G>A	2	189868717	189868717	G	A	COL3A1	c.2671G>A	NM_000090.3	NP_000081.1:p.(Gly891Arg)	NC_000002.11:g.189868717G>A	(Likely) pathogenic	1 lab	d183cd0340
13:52508540 ATP7B G>C	13	52508540	52508540	G	C	ATP7B	c.*352C>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52508540G>C	VUS	1 lab	d18833e2b8
1:247587541 NLRP3 C>T	1	247587541	247587541	C	T	NLRP3	c.790C>T	NM_001243133.2	NP_001230062.1:p.(Leu264Phe)	NC_000001.10:g.247587541C>T	(Likely) pathogenic	1 lab	d191d09aaf
17:73833012 UNC13D G>A	17	73833012	73833012	G	A	UNC13D	c.1056-13C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73833012G>A	(Likely) benign	1 lab	d194f9699e
20:10393168 MKKS T>G	20	10393168	10393168	T	G	MKKS	c.985+10A>C	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10393168T>G	(Likely) benign	1 lab	d196781c9d
19:4117647 MAP2K2 T>G	19	4117647	4117647	T	G	MAP2K2	c.93-20A>C	NM_030662.3	NP_109587.1:p.?	NC_000019.9:g.4117647T>G	(Likely) benign	1 lab	d198d008b1
18:48446966 ME2 C>T	18	48446966	48446966	C	T	ME2	c.844+31C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48446966C>T	(Likely) benign	1 lab	d19ad7cb2f
3:38601813 SCN5A G>A	3	38601813	38601813	G	A	SCN5A	c.4070C>T	NM_198056.2	NP_932173.1:p.(Ala1357Val)	NC_000003.11:g.38601813G>A	VUS	1 lab	d1a0097013
18:53128468 TCF4 G>T	18	53128468	53128468	G	T	TCF4	c.208-122C>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53128468G>T	(Likely) benign	1 lab	d1a964e5a2
14:65266533 SPTB G>A	14	65266533	65266533	G	A	SPTB	c.996C>T	NM_001024858.3	NP_001020029.1:p.(Asn332=)	NC_000014.8:g.65266533G>A	(Likely) benign	1 lab	d1ac1df6d4
5:86672852 RASA1 T>C	5	86672852	86672852	T	C	RASA1	c.2339T>C	NM_002890.3	NP_002881.1:p.(Met780Thr)	NC_000005.9:g.86672852T>C	VUS	1 lab	d8653a4adf
1:228444385 OBSCN T>C	1	228444385	228444385	T	C	OBSCN	c.4619T>C	NM_001271223.2	NP_001258152.2:p.(Val1540Ala)	NC_000001.10:g.228444385T>C	(Likely) benign	1 lab	d1b5143311
12:7242039 C1R G>A	12	7242039	7242039	G	A	C1R	c.660C>T	NM_001354346.2	NP_001341275.1:p.(Ser220=)	NC_000012.11:g.7242039G>A	(Likely) benign	1 lab	d1b53cbb4c
18:28669505 DSC2 G>A	18	28669505	28669505	G	A	DSC2				NC_000018.9:g.28669505G>A	VUS	1 lab	d1b56287bf
7:135333173 NUP205 G>A	7	135333173	135333173	G	A	NUP205	c.4834G>A	NM_001329434.2	NP_001316363.2:p.(Ala1612Thr)	NC_000007.13:g.135333173G>A	(Likely) benign	1 lab	d1b92e8c06
14:58924657 KIAA0586 G>A	14	58924657	58924657	G	A	KIAA0586	c.1702G>A	NM_001244189.2	NP_001231118.1:p.(Ala568Thr)	NC_000014.8:g.58924657G>A	(Likely) benign	1 lab	d1bc3687d5
15:48766475 FBN1 G>A	15	48766475	48766475	G	A	FBN1	c.4187C>T	NM_000138.4	NP_000129.3:p.(Thr1396Ile)	NC_000015.9:g.48766475G>A	(Likely) benign	1 lab	d1be84f077
6:49574641 RHAG C>T	6	49574641	49574641	C	T	RHAG	c.1139-7G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49574641C>T	(Likely) benign	1 lab	d1bf95b5da
X:107824230 COL4A5 T>C	X	107824230	107824230	T	C	COL4A5	c.909T>C	NM_000495.5	NP_000486.1:p.(Asp303=)	NC_000023.10:g.107824230T>C	(Likely) benign	1 lab	d1c2595ecd
16:66503778 BEAN1 C>T	16	66503778	66503778	C	T	BEAN1	c.289+10C>T	NM_001178020.3	NP_001171491.1:p.?	NC_000016.9:g.66503778C>T	(Likely) benign	1 lab	d1c56fb167
2:179546098 TTN T>A	2	179546098	179546098	T	A	TTN	c.33247+5A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179546098T>A	(Likely) benign	1 lab	d1ca003f13
15:48518555 SLC12A1 C>T	15	48518555	48518555	C	T	SLC12A1	c.629-118C>T	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48518555C>T	(Likely) benign	1 lab	d1cac7b7fe
6:51935813 PKHD1 C>T	6	51935813	51935813	C	T	PKHD1	c.658G>A	NM_138694.4	NP_619639.3:p.(Asp220Asn)	NC_000006.11:g.51935813C>T	(Likely) benign	1 lab	d1cae7eb78
13:73357700 PIBF1 G>A	13	73357700	73357700	G	A	PIBF1	c.93G>A	NM_006346.3	NP_006337.2:p.(Thr31=)	NC_000013.10:g.73357700G>A	(Likely) benign	1 lab	d1cbe52147
7:69364416 AUTS2 C>T	7	69364416	69364416	C	T	AUTS2	c.454C>T	NM_001127231.3	NP_001120703.1:p.(Arg152Ter)	NC_000007.13:g.69364416C>T	(Likely) pathogenic	1 lab	d1d08c2050
18:2929128 LPIN2 A>G	18	2929128	2929128	A	G	LPIN2	c.1485T>C	NM_014646.2	NP_055461.1:p.(Tyr495=)	NC_000018.9:g.2929128A>G	(Likely) benign	1 lab	d1d2f66921
17:41243780 BRCA1 T>C	17	41243780	41243780	T	C	BRCA1	c.3768A>G	NM_007300.4	NP_009231.2:p.(Thr1256=)	NC_000017.10:g.41243780T>C	VUS	1 lab	d1d67b8c0b
17:33433473 RAD51D C>T	17	33433473	33433473	C	T	RAD51D	c.568G>A	NM_001142571.2	NP_001136043.1:p.(Val190Met)	NC_000017.10:g.33433473C>T	VUS	1 lab	d1da86c37e
12:102796022 IGF1 A>T	12	102796022	102796022	A	T	IGF1	c.*297T>A	NM_001111283.3	NP_001104753.1:p.?	NC_000012.11:g.102796022A>T	(Likely) benign	1 lab	d1db5cedb0
6:7248876 RREB1 G>T	6	7248876	7248876	G	T	RREB1	c.4904G>T	NM_001003699.4	NP_001003699.1:p.(Arg1635Leu)	NC_000006.11:g.7248876G>T	VUS	1 lab	d86e02ae17
13:103295558 TPP2 C>G	13	103295558	103295558	C	G	TPP2	c.2021-14C>G	NM_003291.4	NP_003282.2:p.?	NC_000013.10:g.103295558C>G	(Likely) benign	1 lab	d1e9ef11d8
17:78081444 GAA G>A	17	78081444	78081444	G	A	GAA	c.781G>A	NM_000152.3	NP_000143.2:p.(Ala261Thr)	NC_000017.10:g.78081444G>A	VUS	1 lab	d33c065919
4:187538271 FAT1 T>A	4	187538271	187538271	T	A	FAT1	c.8963A>T	NM_005245.4	NP_005236.2:p.(Lys2988Ile)	NC_000004.11:g.187538271T>A	(Likely) benign	1 lab	d1ed5f8812
19:17946010 JAK3 C>T	19	17946010	17946010	C	T	JAK3	c.1929G>A	NM_000215.3	NP_000206.2:p.(Leu643=)	NC_000019.9:g.17946010C>T	(Likely) benign	1 lab	d1ef0419eb
6:109802849 ZBTB24 G>A	6	109802849	109802849	G	A	ZBTB24	c.381C>T	NM_014797.2	NP_055612.2:p.(Asp127=)	NC_000006.11:g.109802849G>A	(Likely) benign	1 lab	d1f2c02083
8:133492620 KCNQ3 T>C	8	133492620	133492620	T	C	KCNQ3	c.160A>G	NM_004519.4	NP_004510.1:p.(Thr54Ala)	NC_000008.10:g.133492620T>C	VUS	1 lab	d1f33e163c
12:112891183 PTPN11 C>T	12	112891183	112891183	C	T	PTPN11	c.517C>T	NM_002834.3	NP_002825.3:p.(Arg173Cys)	NC_000012.11:g.112891183C>T	(Likely) benign	1 lab	d1f428cb45
17:5462913 NLRP1 C>G	17	5462913	5462913	C	G	NLRP1	c.1103G>C	NM_033004.4	NP_127497.1:p.(Ser368Thr)	NC_000017.10:g.5462913C>G	(Likely) benign	1 lab	d1f4b3e388
11:66473142 SPTBN2 G>A	11	66473142	66473142	G	A	SPTBN2	c.1807+13C>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66473142G>A	(Likely) benign	1 lab	d1f4d7408f
2:166769119 TTC21B C>T	2	166769119	166769119	C	T	TTC21B	c.2227G>A	NM_024753.5	NP_079029.3:p.(Val743Ile)	NC_000002.11:g.166769119C>T	(Likely) benign	1 lab	d1fe806cac
12:6574105 VAMP1 C>G	12	6574105	6574105	C	G	VAMP1	c.291G>C	NM_014231.5	NP_055046.1:p.(Met97Ile)	NC_000012.11:g.6574105C>G	VUS	1 lab	d86e1c8e9e
1:113653024 LRIG2 G>A	1	113653024	113653024	G	A	LRIG2	c.1638G>A	NM_014813.2	NP_055628.1:p.(Glu546=)	NC_000001.10:g.113653024G>A	(Likely) benign	1 lab	d206ecca2c
8:145700028 FOXH1 C>G	8	145700028	145700028	C	G	FOXH1	c.691G>C	NM_003923.3	NP_003914.1:p.(Glu231Gln)	NC_000008.10:g.145700028C>G	(Likely) benign	1 lab	d20d7dd78e
16:81925370 PLCG2 C>T	16	81925370	81925370	C	T	PLCG2	c.986+175C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81925370C>T	(Likely) benign	1 lab	d21086a555
5:36952120 NIPBL C>CTGTGTGTG	5	36952120	36952156	C	CTGTGTGTG	NIPBL	c.-79-1571_-79-1564dup	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.36952149_36952156dup	(Likely) benign	1 lab	d21173781f
17:73945620 ACOX1 C>T	17	73945620	73945620	C	T	ACOX1	c.1540G>A	NM_004035.7	NP_004026.2:p.(Val514Ile)	NC_000017.10:g.73945620C>T	VUS	1 lab	d87006de36
6:33658817 ITPR3 G>A	6	33658817	33658817	G	A	ITPR3	c.7156G>A	NM_002224.4	NP_002215.2:p.(Val2386Ile)	NC_000006.11:g.33658817G>A	(Likely) benign	1 lab	d8706e58c2
16:88801571 PIEZO1 C>T	16	88801571	88801571	C	T	PIEZO1	c.1641G>A	NM_001142864.4	NP_001136336.2:p.(Ala547=)	NC_000016.9:g.88801571C>T	(Likely) benign	1 lab	d216e626c6
17:78082087 GAA A>G	17	78082087	78082087	A	G	GAA	c.956-2A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78082087A>G	(Likely) pathogenic	1 lab	d2175fe0f6
9:140126404 SLC34A3 C>T	9	140126404	140126404	C	T	SLC34A3	c.86-120C>T	NM_080877.2	NP_543153.1:p.?	NC_000009.11:g.140126404C>T	(Likely) benign	1 lab	d21a5f7d93
1:43912713 SZT2 G>A	1	43912713	43912713	G	A	SZT2	c.8989G>A	NM_015284.4	NP_056099.3:p.(Val2997Met)	NC_000001.10:g.43912713G>A	VUS	1 lab	d8707a5b39
20:31368200 DNMT3B A>C	20	31368200	31368200	A	C	DNMT3B	c.71A>C	NM_006892.3	NP_008823.1:p.(Asn24Thr)	NC_000020.10:g.31368200A>C	(Likely) benign	1 lab	d21d715762
18:59777225 PIGN C>T	18	59777225	59777225	C	T	PIGN	c.1435-19G>A	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59777225C>T	(Likely) benign	1 lab	d220d8123f
7:127953238 RBM28 G>A	7	127953238	127953238	G	A	RBM28	c.2135C>T	NM_018077.3	NP_060547.2:p.(Ser712Leu)	NC_000007.13:g.127953238G>A	(Likely) benign	1 lab	d87145e2e4
19:12991919 DNASE2 G>C	19	12991919	12991919	G	C	DNASE2	c.134C>G	NM_001375.3	NP_001366.1:p.(Ala45Gly)	NC_000019.9:g.12991919G>C	(Likely) benign	1 lab	d226d70c01
1:6273149 RNF207 C>A	1	6273149	6273149	C	A	RNF207	c.1558C>A	NM_207396.3	NP_997279.2:p.(Leu520Met)	NC_000001.10:g.6273149C>A	VUS	1 lab	d25ec19f0b
2:166909448 SCN1A A>T	2	166909448	166909448	A	T	SCN1A	c.608T>A	NM_001165963.3	NP_001159435.1:p.(Val203Asp)	NC_000002.11:g.166909448A>T	(Likely) pathogenic	1 lab	d22c692061
2:166170445 SCN2A T>C	2	166170445	166170445	T	C	SCN2A	c.1210T>C	NM_021007.3	NP_066287.2:p.(Phe404Leu)	NC_000002.11:g.166170445T>C	VUS	1 lab	d8729256b9
5:138858034 STING1 C>A	5	138858034	138858034	C	A	STING1	c.580G>T	NM_198282.4	NP_938023.1:p.(Val194Leu)	NC_000005.9:g.138858034C>A	(Likely) benign	1 lab	d22e4ac3a5
17:59940819 BRIP1 C>T	17	59940819	59940819	C	T	BRIP1	c.-205G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59940819C>T	(Likely) benign	1 lab	d22fd228c4
17:46632808 HOXB3 C>G	17	46632808	46632808	C	G	HOXB3	c.-159+85G>C	NM_002146.4	NP_002137.4:p.?	NC_000017.10:g.46632808C>G	(Likely) benign	1 lab	d236751b93
4:151207155 LRBA G>A	4	151207155	151207155	G	A	LRBA	c.8046C>T	NM_001199282.2	NP_001186211.2:p.(Thr2682=)	NC_000004.11:g.151207155G>A	(Likely) benign	1 lab	d2372a7410
X:22245715 PHEX T>C	X	22245715	22245715	T	C	PHEX	c.2057T>C	NM_000444.6	NP_000435.3:p.(Leu686Pro)	NC_000023.10:g.22245715T>C	VUS	1 lab	d23d674002
11:47365024 MYBPC3 T>A	11	47365024	47365024	T	A	MYBPC3	c.1223+19A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365024T>A	(Likely) benign	1 lab	d23de5bc62
X:99551460 PCDH19 C>T	X	99551460	99551460	C	T	PCDH19	c.3262G>A	NM_001184880.2	NP_001171809.1:p.(Ala1088Thr)	NC_000023.10:g.99551460C>T	(Likely) benign	1 lab	d247a40365
22:46085795 ATXN10 C>T	22	46085795	46085795	C	T	ATXN10	c.308+12C>T	NM_013236.4	NP_037368.1:p.?	NC_000022.10:g.46085795C>T	(Likely) benign	1 lab	d2562a01dd
16:50746191 NOD2 G>A	16	50746191	50746191	G	A	NOD2	c.2369G>A	NM_022162.1	NP_071445.1:p.(Arg790Gln)	NC_000016.9:g.50746191G>A	(Likely) benign	1 lab	d25e5c0b52
5:37227916 CPLANE1 T>C	5	37227916	37227916	T	C	CPLANE1	c.1125A>G	NM_023073.3	NP_075561.3:p.(Pro375=)	NC_000005.9:g.37227916T>C	(Likely) benign	1 lab	d2633383a3
19:46271727 SIX5 C>T	19	46271727	46271727	C	T	SIX5	c.376G>A	NM_175875.4	NP_787071.2:p.(Val126Met)	NC_000019.9:g.46271727C>T	(Likely) benign	1 lab	d26d61bc06
4:39523034 UGDH C>T	4	39523034	39523034	C	T	UGDH	c.99G>A	NM_003359.4	NP_003350.1:p.(Thr33=)	NC_000004.11:g.39523034C>T	(Likely) benign	1 lab	d27042ad87
5:114573669 PGGT1B A>T	5	114573669	114573669	A	T	PGGT1B	c.365T>A	NM_005023.4	NP_005014.2:p.(Ile122Asn)	NC_000005.9:g.114573669A>T	VUS	1 lab	d2723cf566
15:86087099 AKAP13 C>T	15	86087099	86087099	C	T	AKAP13	c.575C>T	NM_006738.6	NP_006729.4:p.(Ala192Val)	NC_000015.9:g.86087099C>T	(Likely) benign	1 lab	d273a0276a
10:15617521 ITGA8 C>A	10	15617521	15617521	C	A	ITGA8	c.2445G>T	NM_003638.3	NP_003629.2:p.(Glu815Asp)	NC_000010.10:g.15617521C>A	(Likely) benign	1 lab	d27733ce9a
19:13370529 CACNA1A T>C	19	13370529	13370529	T	C	CACNA1A	c.4263-14A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13370529T>C	(Likely) benign	1 lab	d277c4f69e
12:22005291 ABCC9 T>C	12	22005291	22005291	T	C	ABCC9	c.2643+11A>G	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22005291T>C	(Likely) benign	1 lab	d2782b1244
15:85406494 ALPK3 A>C	15	85406494	85406494	A	C	ALPK3	c.5017-289A>C	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85406494A>C	(Likely) benign	1 lab	d2782ef07f
18:21149006 NPC1 T>A	18	21149006	21149006	T	A	NPC1	c.288-44A>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21149006T>A	(Likely) benign	1 lab	d2784ce834
10:18292164 SLC39A12 AAGCTCCCT>A	10	18292164	18292173	AAGCTCCCT	A	SLC39A12	c.1826_1833del	NM_001145195.2	NP_001138667.1:p.(Ser609AsnfsTer15)	NC_000010.10:g.18292166_18292173del	VUS	1 lab	da52e67d6d
11:58979722 MPEG1 G>A	11	58979722	58979722	G	A	MPEG1	c.617C>T	NM_001039396.2	NP_001034485.1:p.(Thr206Ile)	NC_000011.9:g.58979722G>A	(Likely) benign	1 lab	d27def6ed9
1:151317578 RFX5 C>G	1	151317578	151317578	C	G	RFX5	c.233+4G>C	NM_000449.3	NP_000440.1:p.?	NC_000001.10:g.151317578C>G	(Likely) benign	1 lab	d280517b0e
15:93485300 CHD2 T>C	15	93485300	93485300	T	C	CHD2	c.826+115T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93485300T>C	(Likely) benign	1 lab	d2837ad5bb
22:32233169 DEPDC5 C>T	22	32233169	32233169	C	T	DEPDC5	c.2354+28C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32233169C>T	(Likely) benign	1 lab	d283fdf2c8
1:27023114 ARID1A C>T	1	27023114	27023114	C	T	ARID1A	c.220C>T	NM_006015.4	NP_006006.3:p.(Gln74Ter)	NC_000001.10:g.27023114C>T	(Likely) pathogenic	1 lab	d2877d766a
22:29090091 CHEK2 T>C	22	29090091	29090091	T	C	CHEK2	c.1390A>G	NM_007194.4	NP_009125.1:p.(Lys464Glu)	NC_000022.10:g.29090091T>C	VUS	1 lab	d287ff7e74
5:127625570 FBN2 G>A	5	127625570	127625570	G	A	FBN2	c.6511+4C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625570G>A	(Likely) benign	1 lab	d288f1bf9c
2:178129279 NFE2L2 G>A	2	178129279	178129279	G	A	NFE2L2	c.26C>T	NM_006164.5	NP_006155.2:p.(Pro9Leu)	NC_000002.11:g.178129279G>A	(Likely) benign	1 lab	d28b37076b
1:16382201 CLCNKB G>A	1	16382201	16382201	G	A	CLCNKB	c.1877G>A	NM_000085.4	NP_000076.2:p.(Cys626Tyr)	NC_000001.10:g.16382201G>A	(Likely) benign	1 lab	d28cd78ff9
10:60562818 BICC1 C>T	10	60562818	60562818	C	T	BICC1	c.2016-19C>T	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60562818C>T	(Likely) benign	1 lab	d291bce090
18:60021619 TNFRSF11A C>T	18	60021619	60021619	C	T	TNFRSF11A	c.284-5C>T	NM_001278268.2	NP_001265197.1:p.?	NC_000018.9:g.60021619C>T	(Likely) benign	1 lab	d2981de22d
13:39435883 FREM2 G>A	13	39435883	39435883	G	A	FREM2	c.7651+184G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435883G>A	(Likely) benign	1 lab	d299b584d1
13:52509213 ATP7B CT>C	13	52509213	52509224	CT	C	ATP7B	c.4125-49del	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52509224del	(Likely) benign	1 lab	d29c7a93a5
17:68171277 KCNJ2 G>C	17	68171277	68171277	G	C	KCNJ2	c.97G>C	NM_000891.2	NP_000882.1:p.(Gly33Arg)	NC_000017.10:g.68171277G>C	VUS	1 lab	d2a0826239
9:740885 KANK1 T>C	9	740885	740885	T	C	KANK1	c.3647T>C	NM_015158.4	NP_055973.2:p.(Ile1216Thr)	NC_000009.11:g.740885T>C	(Likely) benign	1 lab	d2a1c4fe20
2:191927613 STAT4 C>T	2	191927613	191927613	C	T	STAT4	c.816G>A	NM_003151.4	NP_003142.1:p.(Leu272=)	NC_000002.11:g.191927613C>T	(Likely) benign	1 lab	d2a5898bb6
14:24880557 NYNRIN C>T	14	24880557	24880557	C	T	NYNRIN	c.2546-3C>T	NM_025081.3	NP_079357.2:p.?	NC_000014.8:g.24880557C>T	(Likely) benign	1 lab	d2ab90f1d4
19:12758383 MAN2B1 G>A	19	12758383	12758383	G	A	MAN2B1	c.2694C>T	NM_000528.4	NP_000519.2:p.(Pro898=)	NC_000019.9:g.12758383G>A	(Likely) benign	1 lab	d2ae5d0608
15:45879707 BLOC1S6 C>T	15	45879707	45879707	C	T	BLOC1S6	c.66C>T	NM_012388.3	NP_036520.1:p.(Ala22=)	NC_000015.9:g.45879707C>T	(Likely) benign	1 lab	d2ae82f9b2
19:10463149 TYK2 C>T	19	10463149	10463149	C	T	TYK2	c.3279G>A	NM_003331.4	NP_003322.3:p.(Glu1093=)	NC_000019.9:g.10463149C>T	(Likely) benign	1 lab	d2afb68538
19:54313707 NLRP12 G>C	19	54313707	54313707	G	C	NLRP12	c.1206C>G	NM_144687.4	NP_653288.1:p.(Phe402Leu)	NC_000019.9:g.54313707G>C	(Likely) benign	1 lab	d2b077df15
16:89599062 SPG7 C>T	16	89599062	89599062	C	T	SPG7	c.1324+18C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89599062C>T	(Likely) benign	1 lab	d2b38a31e9
21:45706036 AIRE CG>C	21	45706036	45706037	CG	C	AIRE	c.132+16del	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45706037del	(Likely) benign	1 lab	d2b50c7211
22:46742405 TRMU G>A	22	46742405	46742405	G	A	TRMU	c.442G>A	NM_018006.5	NP_060476.2:p.(Glu148Lys)	NC_000022.10:g.46742405G>A	(Likely) benign	1 lab	d2b9012f14
19:11145649 SMARCA4 C>T	19	11145649	11145649	C	T	SMARCA4				NC_000019.9:g.11145649C>T	(Likely) benign	1 lab	d2b9c85058
19:12758121 MAN2B1 C>T	19	12758121	12758121	C	T	MAN2B1	c.2849G>A	NM_000528.4	NP_000519.2:p.(Arg950His)	NC_000019.9:g.12758121C>T	(Likely) benign	1 lab	d2b9e4f74b
12:66814466 GRIP1 C>G	12	66814466	66814466	C	G	GRIP1	c.1682+34G>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66814466C>G	(Likely) benign	1 lab	d2bc99b4b3
10:69918243 MYPN A>C	10	69918243	69918243	A	C	MYPN	c.1318A>C	NM_032578.3	NP_115967.2:p.(Met440Leu)	NC_000010.10:g.69918243A>C	VUS	1 lab	d2c1b34525
12:52308252 ACVRL1 G>C	12	52308252	52308252	G	C	ACVRL1	c.655G>C	NM_000020.2	NP_000011.2:p.(Gly219Arg)	NC_000012.11:g.52308252G>C	VUS	1 lab	d2e8c229ab
12:98938295 TMPO G>C	12	98938295	98938295	G	C	TMPO	c.859G>C	NM_001032283.2	NP_001027454.1:p.(Ala287Pro)	NC_000012.11:g.98938295G>C	(Likely) benign	1 lab	d2c60d2d74
12:110024556 MVK TAGG>T	12	110024556	110024564	TAGG	T	MVK	c.635_637del	NM_000431.4	NP_000422.1:p.(Gly212del)	NC_000012.11:g.110024562_110024564del	(Likely) pathogenic	1 lab	d2c6c87b21
19:13335563 CACNA1A G>C	19	13335563	13335563	G	C	CACNA1A	c.5667C>G	NM_023035.3	NP_075461.2:p.(Pro1889=)	NC_000019.9:g.13335563G>C	(Likely) benign	1 lab	d2cfd6abff
17:80403824 CYBC1 C>T	17	80403824	80403824	C	T	CYBC1	c.214G>A	NM_001193653.2	NP_001180582.1:p.(Asp72Asn)	NC_000017.10:g.80403824C>T	(Likely) benign	1 lab	d2d1f4b349
12:3018675 TULP3 AT>A	12	3018675	3018689	AT	A	TULP3	c.42-6del	NM_003324.5	NP_003315.2:p.?	NC_000012.11:g.3018689del	(Likely) benign	1 lab	d2d4487057
20:62560916 DNAJC5 A>T	20	62560916	62560916	A	T	DNAJC5	c.321+38A>T	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62560916A>T	(Likely) benign	1 lab	d2d65dfb57
5:138860730 STING1 C>T	5	138860730	138860730	C	T	STING1	c.411+14G>A	NM_198282.4	NP_938023.1:p.?	NC_000005.9:g.138860730C>T	(Likely) benign	1 lab	d2d7436a30
11:613879 IRF7 G>A	11	613879	613879	G	A	IRF7	c.806-14C>T	NM_004031.4	NP_004022.2:p.?	NC_000011.9:g.613879G>A	(Likely) benign	1 lab	d4a97c6e26
5:89940528 ADGRV1 T>C	5	89940528	89940528	T	C	ADGRV1	c.2740T>C	NM_032119.4	NP_115495.3:p.(Tyr914His)	NC_000005.9:g.89940528T>C	(Likely) benign	1 lab	d2deebef48
18:12706682 PSMG2 C>T	18	12706682	12706682	C	T	PSMG2	c.191C>T	NM_020232.5	NP_064617.2:p.(Thr64Ile)	NC_000018.9:g.12706682C>T	(Likely) benign	1 lab	d2e004d696
2:24432835 ITSN2 T>G	2	24432835	24432835	T	G	ITSN2	c.4283A>C	NM_001348181.2	NP_001335110.1:p.(Tyr1428Ser)	NC_000002.11:g.24432835T>G	(Likely) benign	1 lab	d2e5a7edb3
1:228560689 OBSCN C>T	1	228560689	228560689	C	T	OBSCN	c.25081C>T	NM_001271223.2	NP_001258152.2:p.(Leu8361=)	NC_000001.10:g.228560689C>T	(Likely) benign	1 lab	d2f2ba8709
16:15813145 MYH11 C>A	16	15813145	15813145	C	A	MYH11	c.5124G>T	NM_001040113.2	NP_001035202.1:p.(Arg1708Ser)	NC_000016.9:g.15813145C>A	VUS	1 lab	d2f5a0c46c
16:56914056 SLC12A3 C>G	16	56914056	56914056	C	G	SLC12A3	c.1458C>G	NM_000339.3	NP_000330.3:p.(Asp486Glu)	NC_000016.9:g.56914056C>G	(Likely) pathogenic	1 lab	d2f6f670a2
1:228494216 OBSCN C>T	1	228494216	228494216	C	T	OBSCN	c.14674C>T	NM_001271223.2	NP_001258152.2:p.(Arg4892Trp)	NC_000001.10:g.228494216C>T	(Likely) benign	1 lab	d309e82d53
8:27324926 CHRNA2 G>A	8	27324926	27324926	G	A	CHRNA2	c.340-71C>T	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27324926G>A	(Likely) benign	1 lab	d30e4b9ced
12:6465059 SCNN1A G>A	12	6465059	6465059	G	A	SCNN1A	c.876-13C>T	NM_001038.6	NP_001029.1:p.?	NC_000012.11:g.6465059G>A	(Likely) benign	1 lab	d31366eb68
9:140710495 EHMT1 G>A	9	140710495	140710495	G	A	EHMT1	c.3355G>A	NM_024757.5	NP_079033.4:p.(Val1119Ile)	NC_000009.11:g.140710495G>A	VUS	1 lab	d87a046677
2:73675973 ALMS1 G>A	2	73675973	73675973	G	A	ALMS1	c.2322G>A	NM_015120.4	NP_055935.4:p.(Leu774=)	NC_000002.11:g.73675973G>A	(Likely) benign	1 lab	d31c511f14
5:90087289 ADGRV1 C>T	5	90087289	90087289	C	T	ADGRV1	c.14517+126C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90087289C>T	(Likely) benign	1 lab	d31cb08d39
7:66103216 KCTD7 C>T	7	66103216	66103216	C	T	KCTD7	c.315-24C>T	NM_153033.4	NP_694578.1:p.?	NC_000007.13:g.66103216C>T	(Likely) benign	1 lab	d31e15fe22
16:2162484 PKD1 C>T	16	2162484	2162484	C	T	PKD1	c.3162-10G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2162484C>T	(Likely) benign	1 lab	d322bc5fea
8:100711762 VPS13B A>T	8	100711762	100711762	A	T	VPS13B	c.6131A>T	NM_017890.4	NP_060360.3:p.(Asn2044Ile)	NC_000008.10:g.100711762A>T	VUS	1 lab	d3233e79f7
4:126389650 FAT4 A>C	4	126389650	126389650	A	C	FAT4				NC_000004.11:g.126389650A>C	(Likely) benign	1 lab	d33e743b1f
14:23895001 MYH7 A>C	14	23895001	23895001	A	C	MYH7	c.2189T>G	NM_000257.2	NP_000248.2:p.(Ile730Ser)	NC_000014.8:g.23895001A>C	(Likely) pathogenic	1 lab	d3244c46c0
21:40685515 BRWD1 GCGCCGCCGC>G	21	40685515	40685540	GCGCCGCCGC	G	BRWD1	c.-107_-99del	NM_033656.4	NP_387505.1:p.?	NC_000021.8:g.40685532_40685540del	(Likely) benign	1 lab	d3254d6e57
15:72030141 THSD4 C>A	15	72030141	72030141	C	A	THSD4	c.621C>A	NM_001286429.2	NP_001273358.1:p.(Asn207Lys)	NC_000015.9:g.72030141C>A	(Likely) benign	1 lab	d32fd5146c
19:39013960 RYR1 G>A	19	39013960	39013960	G	A	RYR1	c.10440+11G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39013960G>A	(Likely) benign	1 lab	d330688c3d
22:39623113 PDGFB A>G	22	39623113	39623113	A	G	PDGFB	c.602-1261T>C	NM_002608.4	NP_002599.1:p.?	NC_000022.10:g.39623113A>G	(Likely) benign	1 lab	d331c5b18c
9:120476816 TLR4 C>T	9	120476816	120476816	C	T	TLR4				NC_000009.11:g.120476816C>T	(Likely) benign	1 lab	d332072f9d
9:21971028 CDKN2A C>T	9	21971028	21971028	C	T	CDKN2A	c.330G>A	NM_000077.4	NP_000068.1:p.(Trp110Ter)	NC_000009.11:g.21971028C>T	(Likely) pathogenic	1 lab	d33478cfd4
8:41547841 ANK1 C>T	8	41547841	41547841	C	T	ANK1	c.4131G>A	NM_001142446.2	NP_001135918.1:p.(Pro1377=)	NC_000008.10:g.41547841C>T	(Likely) benign	1 lab	d335978d9a
2:166894462 SCN1A C>T	2	166894462	166894462	C	T	SCN1A	c.2770G>A	NM_001165963.3	NP_001159435.1:p.(Ala924Thr)	NC_000002.11:g.166894462C>T	(Likely) benign	1 lab	d335d57dd4
1:43803900 MPL G>A	1	43803900	43803900	G	A	MPL	c.210G>A	NM_005373.2	NP_005364.1:p.(Pro70=)	NC_000001.10:g.43803900G>A	(Likely) benign	1 lab	d3362da025
6:32497959 HLA-DRB5 GCT>G	6	32497959	32497961	GCT	G	HLA-DRB5	c.41_42del	NM_002125.4	NP_002116.2:p.(Lys14ThrfsTer27)	NC_000006.11:g.32497960_32497961del	(Likely) benign	1 lab	d33810dafa
16:2140575 PKD1 A>AC	16	2140575	2140576	A	AC	PKD1	c.12154dup	NM_001009944.2	NP_001009944.2:p.(Val4052GlyfsTer105)	NC_000016.9:g.2140576dup	(Likely) pathogenic	1 lab	d33b58d59c
X:133632706 HPRT1 G>T	X	133632706	133632706	G	T	HPRT1	c.601G>T	NM_000194.3	NP_000185.1:p.(Asp201Tyr)	NC_000023.10:g.133632706G>T	(Likely) pathogenic	1 lab	d340538930
14:58910686 KIAA0586 G>A	14	58910686	58910686	G	A	KIAA0586	c.759G>A	NM_001244189.2	NP_001231118.1:p.(Leu253=)	NC_000014.8:g.58910686G>A	(Likely) benign	1 lab	d3445eacca
10:27366407 ANKRD26 C>A	10	27366407	27366407	C	A	ANKRD26	c.937G>T	NM_014915.2	NP_055730.2:p.(Asp313Tyr)	NC_000010.10:g.27366407C>A	(Likely) benign	1 lab	d348ff6f0d
18:48447607 ME2 T>C	18	48447607	48447607	T	C	ME2	c.1056+50T>C	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48447607T>C	(Likely) benign	1 lab	d34df0ef5f
14:23858823 MYH6 C>T	14	23858823	23858823	C	T	MYH6	c.3838G>A	NM_002471.3	NP_002462.2:p.(Ala1280Thr)	NC_000014.8:g.23858823C>T	VUS	1 lab	d34dfc0e82
20:62073848 KCNQ2 G>A	20	62073848	62073848	G	A	KCNQ2	c.727C>T	NM_172107.4	NP_742105.1:p.(Leu243Phe)	NC_000020.10:g.62073848G>A	(Likely) pathogenic	1 lab	d34f2cbea1
10:65225300 JMJD1C G>A	10	65225300	65225300	G	A	JMJD1C	c.123C>T	NM_032776.3	NP_116165.1:p.(Val41=)	NC_000010.10:g.65225300G>A	(Likely) benign	1 lab	d87cb82569
6:39835372 DAAM2 G>A	6	39835372	39835372	G	A	DAAM2	c.515G>A	NM_001201427.2	NP_001188356.1:p.(Arg172His)	NC_000006.11:g.39835372G>A	(Likely) benign	1 lab	d352b814d2
18:19019504 GREB1L C>T	18	19019504	19019504	C	T	GREB1L	c.855C>T	NM_001142966.2	NP_001136438.1:p.(Ser285=)	NC_000018.9:g.19019504C>T	(Likely) benign	1 lab	d3530186a1
12:52082594 SCN8A A>G	12	52082594	52082594	A	G	SCN8A	c.667A>G	NM_014191.4	NP_055006.1:p.(Arg223Gly)	NC_000012.11:g.52082594A>G	(Likely) pathogenic	1 lab	d354177377
19:42409966 ARHGEF1 G>A	19	42409966	42409966	G	A	ARHGEF1	c.2436G>A	NM_199002.2	NP_945353.1:p.(Thr812=)	NC_000019.9:g.42409966G>A	(Likely) benign	1 lab	d35717f3f8
4:74277852 ALB C>T	4	74277852	74277852	C	T	ALB	c.843+10C>T	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74277852C>T	(Likely) benign	1 lab	262e87ddfd
1:92946147 GFI1 G>T	1	92946147	92946147	G	T	GFI1	c.786+11C>A	NM_005263.3	NP_005254.2:p.?	NC_000001.10:g.92946147G>T	(Likely) benign	1 lab	d35e10e4d7
17:7416662 POLR2A GCCAACGTCTCCCAGCTACTCA>G	17	7416662	7416685	GCCAACGTCTCCCAGCTACTCA	G	POLR2A	c.5082_5102del	NM_000937.5	NP_000928.1:p.(Ser1740_Pro1746del)	NC_000017.10:g.7416665_7416685del	VUS	1 lab	d87f4bcd98
12:2797733 CACNA1C G>A	12	2797733	2797733	G	A	CACNA1C	c.5905G>A	NM_001167623.2	NP_001161095.1:p.(Val1969Ile)	NC_000012.11:g.2797733G>A	(Likely) benign	1 lab	d362697c45
16:23647357 PALB2 T>C	16	23647357	23647357	T	C	PALB2	c.510A>G	NM_024675.3	NP_078951.2:p.(Arg170=)	NC_000016.9:g.23647357T>C	VUS	1 lab	d364d76e1f
4:186427660 PDLIM3 G>C	4	186427660	186427660	G	C	PDLIM3	c.793+16C>G	NM_014476.6	NP_055291.2:p.?	NC_000004.11:g.186427660G>C	(Likely) benign	1 lab	d364efecff
2:179407796 TTN C>T	2	179407796	179407796	C	T	TTN	c.70084G>A	NM_133432.3	NP_597676.3:p.(Val23362Met)	NC_000002.11:g.179407796C>T	VUS	1 lab	d3665a6b62
16:150392 NPRL3 C>T	16	150392	150392	C	T	NPRL3	c.745G>A	NM_001077350.3	NP_001070818.1:p.(Glu249Lys)	NC_000016.9:g.150392C>T	(Likely) benign	1 lab	d367c534d0
X:53564501 HUWE1 G>A	X	53564501	53564501	G	A	HUWE1	c.12137+16C>T	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53564501G>A	(Likely) benign	1 lab	d368ca9a68
1:237813272 RYR2 T>C	1	237813272	237813272	T	C	RYR2	c.7608T>C	NM_001035.3	NP_001026.2:p.(Ala2536=)	NC_000001.10:g.237813272T>C	(Likely) benign	1 lab	d36b1cd6b2
X:99662901 PCDH19 T>C	X	99662901	99662901	T	C	PCDH19	c.695A>G	NM_001184880.2	NP_001171809.1:p.(Asn232Ser)	NC_000023.10:g.99662901T>C	(Likely) pathogenic	1 lab	d36c993ce3
14:29236869 FOXG1 C>G	14	29236869	29236869	C	G	FOXG1	c.384C>G	NM_005249.5	NP_005240.3:p.(Gly128=)	NC_000014.8:g.29236869C>G	(Likely) benign	1 lab	d881228166
15:85407564 ALPK3 A>C	15	85407564	85407564	A	C	ALPK3	c.5106-109A>C	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85407564A>C	(Likely) benign	1 lab	d37568714d
X:53408940 SMC1A C>T	X	53408940	53408940	C	T	SMC1A	c.3437+213G>A	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53408940C>T	(Likely) benign	1 lab	d3759b1a18
2:71297928 NAGK C>T	2	71297928	71297928	C	T	NAGK	c.172C>T	NM_017567.6	NP_060037.4:p.(Arg58Trp)	NC_000002.11:g.71297928C>T	(Likely) benign	1 lab	d3777e3e84
22:18910407 PRODH A>C	22	18910407	18910407	A	C	PRODH	c.772T>G	NM_016335.6	NP_057419.5:p.(Phe258Val)	NC_000022.10:g.18910407A>C	VUS	1 lab	d884c68da4
4:86916056 ARHGAP24 C>G	4	86916056	86916056	C	G	ARHGAP24	c.1249C>G	NM_001025616.3	NP_001020787.2:p.(Pro417Ala)	NC_000004.11:g.86916056C>G	(Likely) benign	1 lab	d379853bcf
20:21690094 PAX1 A>C	20	21690094	21690094	A	C	PAX1	c.1282+12A>C	NM_006192.5	NP_006183.2:p.?	NC_000020.10:g.21690094A>C	(Likely) benign	1 lab	d380cf5ce2
6:32810822 PSMB8 G>A	6	32810822	32810822	G	A	PSMB8	c.192C>T	NM_148919.4	NP_683720.2:p.(Asn64=)	NC_000006.11:g.32810822G>A	(Likely) benign	1 lab	d383b3b7d8
1:160260267 COPA G>T	1	160260267	160260267	G	T	COPA	c.3642+15C>A	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160260267G>T	(Likely) benign	1 lab	d386e83959
5:89909972 ADGRV1 GAA>G	5	89909972	89909989	GAA	G	ADGRV1	c.23-664_23-663del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89909988_89909989del	(Likely) benign	1 lab	d390e4970b
4:79254451 FRAS1 T>G	4	79254451	79254451	T	G	FRAS1	c.2163T>G	NM_025074.7	NP_079350.5:p.(Cys721Trp)	NC_000004.11:g.79254451T>G	VUS	1 lab	d3911a4f7e
4:187539780 FAT1 C>T	4	187539780	187539780	C	T	FAT1	c.7960G>A	NM_005245.4	NP_005236.2:p.(Val2654Ile)	NC_000004.11:g.187539780C>T	(Likely) benign	1 lab	d391aa110d
19:12918301 RNASEH2A A>G	19	12918301	12918301	A	G	RNASEH2A	c.392A>G	NM_006397.2	NP_006388.2:p.(Gln131Arg)	NC_000019.9:g.12918301A>G	(Likely) benign	1 lab	d397b6b85d
5:156525920 HAVCR2 A>AAG	5	156525920	156525942	A	AAG	HAVCR2	c.479-10_479-9dup	NM_032782.5	NP_116171.3:p.?	NC_000005.9:g.156525941_156525942dup	(Likely) benign	1 lab	d39c11a1b2
5:1214106 SLC6A19 G>A	5	1214106	1214106	G	A	SLC6A19	c.813G>A	NM_001003841.3	NP_001003841.1:p.(Ala271=)	NC_000005.9:g.1214106G>A	(Likely) benign	1 lab	d3a0003ea5
2:166183324 SCN2A A>G	2	166183324	166183324	A	G	SCN2A	c.2017-38A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183324A>G	(Likely) benign	1 lab	d3a095339a
13:32900419 BRCA2 G>T	13	32900419	32900419	G	T	BRCA2	c.516G>T	NM_000059.4	NP_000050.3:p.(Lys172Asn)	NC_000013.10:g.32900419G>T	(Likely) pathogenic	1 lab	d88596ea7f
20:31388630 DNMT3B C>G	20	31388630	31388630	C	G	DNMT3B	c.1906-11C>G	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31388630C>G	(Likely) benign	1 lab	d3a4955bf9
2:20135960 WDR35 G>A	2	20135960	20135960	G	A	WDR35	c.2447+20C>T	NM_001006657.2	NP_001006658.1:p.?	NC_000002.11:g.20135960G>A	(Likely) benign	1 lab	d3a9d4d76d
2:231079731 SP110 A>G	2	231079731	231079731	A	G	SP110	c.250T>C	NM_004509.4	NP_004500.4:p.(Leu84=)	NC_000002.11:g.231079731A>G	(Likely) benign	1 lab	d3abf79064
4:151604887 LRBA A>G	4	151604887	151604887	A	G	LRBA	c.5755-18T>C	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151604887A>G	(Likely) benign	1 lab	d3b44d8684
12:15722675 PTPRO C>T	12	15722675	15722675	C	T	PTPRO	c.2829+243C>T	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15722675C>T	(Likely) benign	1 lab	d3b45be3e7
16:27732993 KATNIP C>T	16	27732993	27732993	C	T	KATNIP	c.1720C>T	NM_015202.3	NP_056017.3:p.(Arg574Trp)	NC_000016.9:g.27732993C>T	(Likely) benign	1 lab	d3b4e93ed5
3:168807994 MECOM C>T	3	168807994	168807994	C	T	MECOM	c.2604G>A	NM_001164000.2	NP_001157472.1:p.(Lys868=)	NC_000003.11:g.168807994C>T	(Likely) benign	1 lab	d3b7ed3573
3:64507922 ADAMTS9 G>A	3	64507922	64507922	G	A	ADAMTS9	c.5733C>T	NM_182920.2	NP_891550.1:p.(Val1911=)	NC_000003.11:g.64507922G>A	(Likely) benign	1 lab	d3b8b1a51c
9:77418972 TRPM6 C>CA	9	77418972	77418973	C	CA	TRPM6	c.1639-171_1639-170insT	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77418972_77418973insA	(Likely) benign	1 lab	d3b9b7ea9d
6:32943752 BRD2 A>G	6	32943752	32943752	A	G	BRD2	c.472-56A>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943752A>G	(Likely) benign	1 lab	d3bbaf7430
19:54318000 NLRP12 G>C	19	54318000	54318000	G	C	NLRP12	c.370+162C>G	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54318000G>C	(Likely) benign	1 lab	d3bc8fa8f5
2:15467975 NBAS G>A	2	15467975	15467975	G	A	NBAS	c.4481C>T	NM_015909.4	NP_056993.2:p.(Thr1494Ile)	NC_000002.11:g.15467975G>A	(Likely) benign	1 lab	d3bdfe1dde
4:151683005 LRBA A>T	4	151683005	151683005	A	T	LRBA	c.5581-6T>A	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151683005A>T	(Likely) benign	1 lab	d3bf2197b6
X:153217623 HCFC1 G>A	X	153217623	153217623	G	A	HCFC1	c.4943-14C>T	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153217623G>A	(Likely) benign	1 lab	d3c13b534b
2:31611143 XDH C>T	2	31611143	31611143	C	T	XDH	c.514G>A	NM_000379.4	NP_000370.2:p.(Gly172Arg)	NC_000002.11:g.31611143C>T	(Likely) benign	1 lab	d3c6e0a4a4
2:166904157 SCN1A A>G	2	166904157	166904157	A	G	SCN1A	c.1150T>C	NM_001165963.3	NP_001159435.1:p.(Trp384Arg)	NC_000002.11:g.166904157A>G	(Likely) pathogenic	1 lab	d3c80863bd
13:32893462 BRCA2 G>A	13	32893462	32893462	G	A	BRCA2	c.316G>A	NM_000059.3	NP_000050.2:p.(Gly106Arg)	NC_000013.10:g.32893462G>A	VUS	1 lab	d3cb8137b8
4:79442873 FRAS1 C>T	4	79442873	79442873	C	T	FRAS1	c.10648+89C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79442873C>T	(Likely) benign	1 lab	d3cb8f96ee
10:27497352 ACBD5 G>A	10	27497352	27497352	G	A	ACBD5	c.1227C>T	NM_145698.4	NP_663736.2:p.(Ser409=)	NC_000010.10:g.27497352G>A	(Likely) benign	1 lab	d3cc490cdb
10:76602833 KAT6B A>C	10	76602833	76602833	A	C	KAT6B	c.218A>C	NM_012330.4	NP_036462.2:p.(Asp73Ala)	NC_000010.10:g.76602833A>C	VUS	1 lab	d88d151cb4
7:98782803 KPNA7 GA>G	7	98782803	98782805	GA	G	KPNA7	c.901-19del	NM_001145715.3	NP_001139187.1:p.?	NC_000007.13:g.98782805del	(Likely) benign	1 lab	d3d2dad273
2:220283238 DES C>T	2	220283238	220283238	C	T	DES	c.54C>T	NM_001927.3	NP_001918.3:p.(Phe18=)	NC_000002.11:g.220283238C>T	(Likely) benign	1 lab	d3d39a3a88
19:12760135 MAN2B1 G>A	19	12760135	12760135	G	A	MAN2B1	c.2355+20C>T	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12760135G>A	(Likely) benign	1 lab	d3d455bc54
9:138675748 KCNT1 A>G	9	138675748	138675748	A	G	KCNT1	c.2842-122A>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138675748A>G	(Likely) benign	1 lab	d3d5c849ee
22:36661518 APOL1 G>A	22	36661518	36661518	G	A	APOL1	c.636G>A	NM_003661.4	NP_003652.2:p.(Met212Ile)	NC_000022.10:g.36661518G>A	(Likely) benign	1 lab	d3d7131bbd
7:91852183 KRIT1 TGA>T	7	91852183	91852191	TGA	T	KRIT1	c.1362_1363del	NM_194454.3	NP_919436.1:p.(Gln455ArgfsTer24)	NC_000007.13:g.91852190_91852191del	(Likely) pathogenic	1 lab	d3d72e0d11
X:47444923 SYN1 G>A	X	47444923	47444923	G	A	SYN1	c.775-8023C>T	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47444923G>A	(Likely) benign	1 lab	d3da06358e
3:38182723 MYD88 C>T	3	38182723	38182723	C	T	MYD88	c.900C>T	NM_001172567.1	NP_001166038.1:p.(Pro300=)	NC_000003.11:g.38182723C>T	(Likely) benign	1 lab	d3dad9c761
2:204591339 CD28 AT>A	2	204591339	204591348	AT	A	CD28	c.53-8del	NM_006139.4	NP_006130.1:p.?	NC_000002.11:g.204591348del	(Likely) benign	1 lab	d3dc2a8077
17:5418855 NLRP1 T>A	17	5418855	5418855	T	A	NLRP1	c.4058-18A>T	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5418855T>A	(Likely) benign	1 lab	d3df0964ac
2:216240047 FN1 G>A	2	216240047	216240047	G	A	FN1	c.6047C>T	NM_212482.2	NP_997647.1:p.(Pro2016Leu)	NC_000002.11:g.216240047G>A	(Likely) benign	1 lab	d3e1631a81
18:29126647 DSG2 A>G	18	29126647	29126647	A	G	DSG2	c.3298A>G	NM_001943.3	NP_001934.2:p.(Ile1100Val)	NC_000018.9:g.29126647A>G	(Likely) benign	1 lab	d3e301fdd2
1:12004560 PLOD1 C>T	1	12004560	12004560	C	T	PLOD1	c.77-19C>T	NM_001316320.2	NP_001303249.1:p.?	NC_000001.10:g.12004560C>T	(Likely) benign	1 lab	d3e378b571
18:60017011 TNFRSF11A T>G	18	60017011	60017011	T	G	TNFRSF11A				NC_000018.9:g.60017011T>G	(Likely) benign	1 lab	d3eda3e597
1:207647125 CR2 ATTC>A	1	207647125	207647128	ATTC	A	CR2	c.2156-20_2156-18del	NM_001006658.3	NP_001006659.1:p.?	NC_000001.10:g.207647126_207647128del	(Likely) benign	1 lab	d3f44ccfc1
10:97101036 SORBS1 G>C	10	97101036	97101036	G	C	SORBS1	c.2532+6C>G	NM_001290294.2	NP_001277223.2:p.?	NC_000010.10:g.97101036G>C	(Likely) benign	1 lab	d3fd7518ba
3:128205219 GATA2 CAAAG>C	3	128205219	128205224	CAAAG	C	GATA2	c.230-12_230-9del	NM_032638.5	NP_116027.2:p.?	NC_000003.11:g.128205221_128205224del	(Likely) benign	1 lab	d4078f6ea6
7:116421967 MET T>C	7	116421967	116421967	T	C	MET	c.3577-75T>C	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116421967T>C	(Likely) benign	1 lab	d409b8b00d
9:5050796 JAK2 C>T	9	5050796	5050796	C	T	JAK2	c.579C>T	NM_004972.3	NP_004963.1:p.(Asn193=)	NC_000009.11:g.5050796C>T	(Likely) benign	1 lab	d40bba07cf
1:237905587 RYR2 A>T	1	237905587	237905587	A	T	RYR2	c.11092-9A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237905587A>T	(Likely) benign	1 lab	d40bee2731
9:130587654 ENG CG>C	9	130587654	130587656	CG	C	ENG	c.690-19del	NM_001114753.3	NP_001108225.1:p.?	NC_000009.11:g.130587656del	(Likely) benign	1 lab	d40d71cc91
1:154542148 CHRNB2 CT>C	1	154542148	154542150	CT	C	CHRNB2	c.210+67del	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154542150del	(Likely) benign	1 lab	d40e659132
3:189585657 TP63 C>T	3	189585657	189585657	C	T	TP63	c.912C>T	NM_001329964.1	NP_001316893.1:p.(Phe304=)	NC_000003.11:g.189585657C>T	(Likely) benign	1 lab	d40f284164
4:155505859 FGA A>G	4	155505859	155505859	A	G	FGA	c.2018T>C	NM_000508.3	NP_000499.1:p.(Leu673Pro)	NC_000004.11:g.155505859A>G	VUS	1 lab	d40f6879ea
16:11001966 CIITA T>C	16	11001966	11001966	T	C	CIITA	c.2617T>C	NM_000246.3	NP_000237.2:p.(Leu873=)	NC_000016.9:g.11001966T>C	(Likely) benign	1 lab	d410422d37
1:150116873 VPS45 A>C	1	150116873	150116873	A	C	VPS45	c.1626-14A>C	NM_007259.4	NP_009190.2:p.?	NC_000001.10:g.150116873A>C	(Likely) benign	1 lab	d413d1983a
1:57373693 C8A C>A	1	57373693	57373693	C	A	C8A	c.1287C>A	NM_000562.2	NP_000553.1:p.(Gly429=)	NC_000001.10:g.57373693C>A	(Likely) benign	1 lab	d4146a5419
2:166153662 SCN2A C>T	2	166153662	166153662	C	T	SCN2A	c.386+17C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166153662C>T	(Likely) benign	1 lab	d4160fadf1
16:15811188 MYH11 G>C	16	15811188	15811188	G	C	MYH11	c.5334C>G	NM_001040113.2	NP_001035202.1:p.(Asn1778Lys)	NC_000016.9:g.15811188G>C	VUS	1 lab	d416c0f6e5
4:79429904 FRAS1 A>C	4	79429904	79429904	A	C	FRAS1	c.9524A>C	NM_025074.7	NP_079350.5:p.(Tyr3175Ser)	NC_000004.11:g.79429904A>C	VUS	1 lab	d417338262
17:1746092 RPA1 C>A	17	1746092	1746092	C	A	RPA1	c.34-5C>A	NM_002945.5	NP_002936.1:p.?	NC_000017.10:g.1746092C>A	(Likely) benign	1 lab	d418abce01
1:156085023 LMNA A>T	1	156085023	156085023	A	T	LMNA				NC_000001.10:g.156085023A>T	(Likely) pathogenic	1 lab	d41c31772e
4:2829343 SH3BP2 C>T	4	2829343	2829343	C	T	SH3BP2	c.528C>T	NM_003023.4	NP_003014.3:p.(His176=)	NC_000004.11:g.2829343C>T	(Likely) benign	1 lab	d41ced7b3d
2:176957753 HOXD13 C>T	2	176957753	176957753	C	T	HOXD13	c.135C>T	NM_000523.4	NP_000514.2:p.(Ser45=)	NC_000002.11:g.176957753C>T	(Likely) benign	1 lab	d41d7e762a
1:43897496 SZT2 G>A	1	43897496	43897496	G	A	SZT2	c.5027G>A	NM_015284.4	NP_056099.3:p.(Arg1676His)	NC_000001.10:g.43897496G>A	(Likely) benign	1 lab	d41f4d2407
16:9862850 GRIN2A G>A	16	9862850	9862850	G	A	GRIN2A	c.2453C>T	NM_000833.5	NP_000824.1:p.(Ala818Val)	NC_000016.9:g.9862850G>A	(Likely) pathogenic	1 lab	d41f6730ec
7:130067668 CEP41 C>T	7	130067668	130067668	C	T	CEP41	c.97+128G>A	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130067668C>T	(Likely) benign	1 lab	d420a056c6
4:187004767 TLR3 C>A	4	187004767	187004767	C	A	TLR3	c.1927C>A	NM_003265.2	NP_003256.1:p.(Arg643Ser)	NC_000004.11:g.187004767C>A	(Likely) benign	1 lab	d4216280ec
7:87069546 ABCB4 T>C	7	87069546	87069546	T	C	ABCB4	c.1529A>G	NM_000443.4	NP_000434.1:p.(Asn510Ser)	NC_000007.13:g.87069546T>C	(Likely) pathogenic	1 lab	d42368a935
17:10433200 MYH2 A>G	17	10433200	10433200	A	G	MYH2	c.2889T>C	NM_017534.6	NP_060004.3:p.(Leu963=)	NC_000017.10:g.10433200A>G	(Likely) benign	1 lab	d423a79fee
20:44049269 PIGT C>T	20	44049269	44049269	C	T	PIGT	c.969C>T	NM_015937.6	NP_057021.2:p.(Thr323=)	NC_000020.10:g.44049269C>T	(Likely) benign	1 lab	d425302942
2:202494630 TMEM237 AT>A	2	202494630	202494641	AT	A	TMEM237	c.554-56del	NM_001044385.3	NP_001037850.1:p.?	NC_000002.11:g.202494641del	(Likely) benign	1 lab	d42a2573d6
11:64577260 MEN1 G>A	11	64577260	64577260	G	A	MEN1	c.322C>T	NM_000244.3	NP_000235.2:p.(Arg108Ter)	NC_000011.9:g.64577260G>A	(Likely) pathogenic	1 lab	d42b617a8d
16:2161874 PKD1 T>G	16	2161874	2161874	T	G	PKD1	c.3296-2A>C	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2161874T>G	(Likely) pathogenic	1 lab	d815c8c520
2:166848221 SCN1A G>T	2	166848221	166848221	G	T	SCN1A	c.5564C>A	NM_001165963.3	NP_001159435.1:p.(Pro1855His)	NC_000002.11:g.166848221G>T	(Likely) pathogenic	1 lab	d431e1cd63
15:64716258 TRIP4 C>A	15	64716258	64716258	C	A	TRIP4	c.1387C>A	NM_016213.5	NP_057297.2:p.(His463Asn)	NC_000015.9:g.64716258C>A	(Likely) benign	1 lab	d4350d1996
X:22132583 PHEX AG>A	X	22132583	22132587	AG	A	PHEX	c.1185del	NM_000444.6	NP_000435.3:p.(Thr396ProfsTer12)	NC_000023.10:g.22132587del	(Likely) pathogenic	1 lab	d435cd5c6f
17:38510572 RARA C>T	17	38510572	38510572	C	T	RARA	c.826C>T	NM_000964.4	NP_000955.1:p.(Arg276Trp)	NC_000017.10:g.38510572C>T	(Likely) pathogenic	1 lab	d43a83416f
9:129456099 LMX1B G>A	9	129456099	129456099	G	A	LMX1B	c.886+8G>A	NM_002316.4	NP_002307.2:p.?	NC_000009.11:g.129456099G>A	(Likely) benign	1 lab	d43bef5639
17:41219517 BRCA1 C>T	17	41219517	41219517	C	T	BRCA1	c.5074+108G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219517C>T	(Likely) benign	1 lab	d43d38f418
21:34648942 IL10RB C>T	21	34648942	34648942	C	T	IL10RB				NC_000021.8:g.34648942C>T	VUS	1 lab	d43e627ea1
11:4107737 STIM1 G>T	11	4107737	4107737	G	T	STIM1	c.1505G>T	NM_003156.3	NP_003147.2:p.(Arg502Leu)	NC_000011.9:g.4107737G>T	VUS	1 lab	d47ab0e72f
4:84185440 COQ2 A>G	4	84185440	84185440	A	G	COQ2	c.1178T>C	NM_015697.8	NP_056512.5:p.(Val393Ala)	NC_000004.11:g.84185440A>G	(Likely) benign	1 lab	d43f75ea71
16:3304220 MEFV G>A	16	3304220	3304220	G	A	MEFV	c.848C>T	NM_000243.2	NP_000234.1:p.(Pro283Leu)	NC_000016.9:g.3304220G>A	(Likely) benign	1 lab	d43fc37435
1:113269251 TAFA3 G>T	1	113269251	113269251	G	T	TAFA3	c.459G>T	NM_001004440.2	NP_001004440.1:p.(Arg153Ser)	NC_000001.10:g.113269251G>T	VUS	1 lab	d895bd5ca7
6:32943062 BRD2 G>GT	6	32943062	32943063	G	GT	BRD2	c.334-99_334-98insT	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943062_32943063insT	(Likely) benign	1 lab	d45bca7461
6:49573302 RHAG C>T	6	49573302	49573302	C	T	RHAG	c.*224G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49573302C>T	(Likely) benign	1 lab	d45d2f7ac1
13:52515337 ATP7B C>T	13	52515337	52515337	C	T	ATP7B	c.3436G>A	NM_000053.4	NP_000044.2:p.(Val1146Met)	NC_000013.10:g.52515337C>T	(Likely) pathogenic	1 lab	d463fde88e
1:38270045 YRDC G>A	1	38270045	38270045	G	A	YRDC	c.696C>T	NM_024640.4	NP_078916.3:p.(Pro232=)	NC_000001.10:g.38270045G>A	(Likely) benign	1 lab	d46628c842
7:2962933 CARD11 C>T	7	2962933	2962933	C	T	CARD11	c.1975G>A	NM_032415.6	NP_115791.3:p.(Val659Met)	NC_000007.13:g.2962933C>T	(Likely) benign	1 lab	d466808be5
13:110895069 COL4A1 CA>C	13	110895069	110895070	CA	C	COL4A1	c.96del	NM_001845.6	NP_001836.3:p.(Gly33AlafsTer12)	NC_000013.10:g.110895070del	(Likely) pathogenic	1 lab	d47813f097
9:35808588 NPR2 G>A	9	35808588	35808588	G	A	NPR2	c.2795G>A	NM_003995.4	NP_003986.2:p.(Arg932His)	NC_000009.11:g.35808588G>A	VUS	1 lab	d899b9fa0d
17:3806836 P2RX1 C>T	17	3806836	3806836	C	T	P2RX1	c.605+9G>A	NM_002558.4	NP_002549.1:p.?	NC_000017.10:g.3806836C>T	(Likely) benign	1 lab	d484104a8c
4:2833382 SH3BP2 C>T	4	2833382	2833382	C	T	SH3BP2	c.1410C>T	NM_001145855.2	NP_001139327.1:p.(Asp470=)	NC_000004.11:g.2833382C>T	(Likely) benign	1 lab	d485d1d2c0
14:97312642 VRK1 G>A	14	97312642	97312642	G	A	VRK1	c.286+141G>A	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97312642G>A	(Likely) benign	1 lab	d492a3ac5b
14:99642417 BCL11B G>A	14	99642417	99642417	G	A	BCL11B	c.756C>T	NM_138576.4	NP_612808.1:p.(Pro252=)	NC_000014.8:g.99642417G>A	(Likely) benign	1 lab	d49768e97c
6:123576256 TRDN C>G	6	123576256	123576256	C	G	TRDN	c.1921G>C	NM_006073.4	NP_006064.2:p.(Glu641Gln)	NC_000006.11:g.123576256C>G	VUS	1 lab	d49826b11a
5:90111521 ADGRV1 A>G	5	90111521	90111521	A	G	ADGRV1	c.16164A>G	NM_032119.4	NP_115495.3:p.(Arg5388=)	NC_000005.9:g.90111521A>G	(Likely) benign	1 lab	d49a479463
11:118916379 HYOU1 T>A	11	118916379	118916379	T	A	HYOU1	c.2939-13A>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118916379T>A	(Likely) benign	1 lab	d49a756911
19:39416898 SARS2 G>A	19	39416898	39416898	G	A	SARS2	c.310C>T	NM_017827.4	NP_060297.1:p.(Arg104Trp)	NC_000019.9:g.39416898G>A	(Likely) benign	1 lab	d49a9b4279
1:156100442 LMNA C>T	1	156100442	156100442	C	T	LMNA				NC_000001.10:g.156100442C>T	(Likely) pathogenic	1 lab	d49b363efb
6:1612112 FOXC1 G>A	6	1612112	1612112	G	A	FOXC1	c.1432G>A	NM_001453.3	NP_001444.2:p.(Ala478Thr)	NC_000006.11:g.1612112G>A	(Likely) benign	1 lab	d49c0a667a
9:14740216 FREM1 C>T	9	14740216	14740216	C	T	FREM1	c.6271G>A	NM_144966.5	NP_659403.4:p.(Val2091Ile)	NC_000009.11:g.14740216C>T	VUS	1 lab	d49d0d7079
X:48676683 HDAC6 A>G	X	48676683	48676683	A	G	HDAC6	c.2051A>G	NM_006044.4	NP_006035.2:p.(Asp684Gly)	NC_000023.10:g.48676683A>G	VUS	1 lab	d89af00240
16:5132567 ALG1 G>A	16	5132567	5132567	G	A	ALG1	c.1080G>A	NM_019109.4	NP_061982.3:p.(Ala360=)	NC_000016.9:g.5132567G>A	(Likely) benign	1 lab	d4a7979272
19:36333268 NPHS1 G>T	19	36333268	36333268	G	T	NPHS1	c.2506+13C>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36333268G>T	(Likely) benign	1 lab	d4aa8786bf
4:79295565 FRAS1 G>A	4	79295565	79295565	G	A	FRAS1	c.3151+160G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79295565G>A	(Likely) benign	1 lab	d4aadcab64
1:160275574 COPA T>C	1	160275574	160275574	T	C	COPA	c.1443-11A>G	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160275574T>C	(Likely) benign	1 lab	d4ac9cb783
4:79166568 FRAS1 T>G	4	79166568	79166568	T	G	FRAS1	c.309+89T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79166568T>G	(Likely) benign	1 lab	d4acf68734
6:138192538 TNFAIP3 T>G	6	138192538	138192538	T	G	TNFAIP3	c.174T>G	NM_001270508.2	NP_001257437.1:p.(Pro58=)	NC_000006.11:g.138192538T>G	(Likely) benign	1 lab	d4afe8ba69
10:16975121 CUBN C>T	10	16975121	16975121	C	T	CUBN	c.6089G>A	NM_001081.3	NP_001072.2:p.(Arg2030Gln)	NC_000010.10:g.16975121C>T	(Likely) benign	1 lab	d4b24555e1
1:164768917 PBX1 G>T	1	164768917	164768917	G	T	PBX1	c.511-19G>T	NM_002585.3	NP_002576.1:p.?	NC_000001.10:g.164768917G>T	(Likely) benign	1 lab	d4bdd7f5c1
8:141461017 TRAPPC9 G>A	8	141461017	141461017	G	A	TRAPPC9	c.456C>T	NM_031466.8	NP_113654.5:p.(Ile152=)	NC_000008.10:g.141461017G>A	(Likely) benign	1 lab	d89d38d830
6:2890726 SERPINB9 G>A	6	2890726	2890726	G	A	SERPINB9	c.802C>T	NM_004155.6	NP_004146.1:p.(Leu268Phe)	NC_000006.11:g.2890726G>A	(Likely) benign	1 lab	d4c01d47b1
2:189858779 COL3A1 A>T	2	189858779	189858779	A	T	COL3A1	c.1165A>T	NM_000090.3	NP_000081.1:p.(Asn389Tyr)	NC_000002.11:g.189858779A>T	VUS	1 lab	d4c36b4441
10:27035259 PDSS1 T>C	10	27035259	27035259	T	C	PDSS1	c.598-3T>C	NM_001321979.1	NP_001308908.1:p.?	NC_000010.10:g.27035259T>C	(Likely) benign	1 lab	d4c90fadc4
2:109370271 RANBP2 A>G	2	109370271	109370271	A	G	RANBP2	c.2056-10A>G	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109370271A>G	(Likely) benign	1 lab	d4ccb31a87
9:90584093 CDK20 C>T	9	90584093	90584093	C	T	CDK20	c.843+16G>A	NM_001039803.2	NP_001034892.1:p.?	NC_000009.11:g.90584093C>T	(Likely) benign	1 lab	d4ce982f0e
2:163134757 IFIH1 T>C	2	163134757	163134757	T	C	IFIH1	c.1723A>G	NM_022168.4	NP_071451.2:p.(Thr575Ala)	NC_000002.11:g.163134757T>C	(Likely) benign	1 lab	d4d2bc9d6e
13:108863437 LIG4 G>A	13	108863437	108863437	G	A	LIG4	c.180C>T	NM_002312.3	NP_002303.2:p.(Val60=)	NC_000013.10:g.108863437G>A	(Likely) benign	1 lab	d4d3310473
2:25384499 POMC G>C	2	25384499	25384499	G	C	POMC	c.255C>G	NM_001035256.2	NP_001030333.1:p.(Asp85Glu)	NC_000002.11:g.25384499G>C	(Likely) benign	1 lab	d4d3e9dd33
1:154541839 CHRNB2 A>T	1	154541839	154541839	A	T	CHRNB2	c.65-99A>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154541839A>T	(Likely) benign	1 lab	d4d70d7437
22:21351625 LZTR1 C>T	22	21351625	21351625	C	T	LZTR1	c.2511C>T	NM_006767.4	NP_006758.2:p.(Gly837=)	NC_000022.10:g.21351625C>T	(Likely) benign	1 lab	d4d80ac794
19:16606600 CALR3 G>GA	19	16606600	16606603	G	GA	CALR3	c.154dup	NM_145046.4	NP_659483.2:p.(Ser52PhefsTer9)	NC_000019.9:g.16606603dup	VUS	1 lab	d4d83297e8
3:46900980 MYL3 C>A	3	46900980	46900980	C	A	MYL3	c.466G>T	NM_000258.3	NP_000249.1:p.(Val156Leu)	NC_000003.11:g.46900980C>A	VUS	1 lab	d8a1088dff
17:40468917 STAT3 G>A	17	40468917	40468917	G	A	STAT3	c.2147C>T	NM_139276.2	NP_644805.1:p.(Thr716Met)	NC_000017.10:g.40468917G>A	(Likely) pathogenic	1 lab	d4e2137329
7:73462818 ELN G>C	7	73462818	73462818	G	C	ELN	c.746-15G>C	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73462818G>C	(Likely) benign	1 lab	d4e5a56e15
3:69158250 LMOD3 G>A	3	69158250	69158250	G	A	LMOD3	c.1679C>T	NM_198271.4	NP_938012.2:p.(Ala560Val)	NC_000003.11:g.69158250G>A	(Likely) benign	1 lab	d4e607430a
2:27702916 IFT172 G>A	2	27702916	27702916	G	A	IFT172	c.886C>T	NM_015662.3	NP_056477.1:p.(Arg296Trp)	NC_000002.11:g.27702916G>A	(Likely) pathogenic	1 lab	d4ec323ab3
2:179430586 TTN A>G	2	179430586	179430586	A	G	TTN	c.80273T>C	NM_001267550.1	NP_001254479.1:p.(Met26758Thr)	NC_000002.11:g.179430586A>G	VUS	1 lab	d4f44f4520
3:38655510 SCN5A G>A	3	38655510	38655510	G	A	SCN5A	c.659C>T	NM_001099404.1	NP_001092874.1:p.(Thr220Ile)	NC_000003.11:g.38655510G>A	(Likely) benign	1 lab	d4f7d1b204
17:78172564 CARD14 C>T	17	78172564	78172564	C	T	CARD14	c.1851+174C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78172564C>T	(Likely) benign	1 lab	d4f93f54e8
17:4857108 ENO3 G>A	17	4857108	4857108	G	A	ENO3	c.412G>A	NM_053013.4	NP_443739.3:p.(Ala138Thr)	NC_000017.10:g.4857108G>A	VUS	1 lab	d4faa9066d
8:48733524 PRKDC A>C	8	48733524	48733524	A	C	PRKDC	c.9112-20T>G	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48733524A>C	(Likely) benign	1 lab	d50020b55a
21:34799200 IFNGR2 G>A	21	34799200	34799200	G	A	IFNGR2	c.422G>A	NM_005534.3	NP_005525.2:p.(Gly141Glu)	NC_000021.8:g.34799200G>A	VUS	1 lab	d502538194
14:23900789 MYH7 C>G	14	23900789	23900789	C	G	MYH7	c.732+5G>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900789C>G	VUS	1 lab	d5035c4eb6
2:232146751 ARMC9 G>GT	2	232146751	232146758	G	GT	ARMC9	c.1552-14dup	NM_025139.6	NP_079415.4:p.?	NC_000002.11:g.232146758dup	(Likely) benign	1 lab	d506d62ed3
17:78165088 CARD14 G>A	17	78165088	78165088	G	A	CARD14	c.1090-34G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78165088G>A	(Likely) benign	1 lab	d510cd3600
8:11421448 BLK G>A	8	11421448	11421448	G	A	BLK	c.1349G>A	NM_001715.3	NP_001706.2:p.(Arg450His)	NC_000008.10:g.11421448G>A	(Likely) benign	1 lab	d512a9d157
2:179398325 TTN A>AT	2	179398325	179398326	A	AT	TTN	c.103016dup	NM_001267550.1	NP_001254479.1:p.(Tyr34339Ter)	NC_000002.11:g.179398326dup	(Likely) pathogenic	1 lab	d51388e8d0
8:143961180 CYP11B1 G>A	8	143961180	143961180	G	A	CYP11B1	c.50C>T	NM_000497.3	NP_000488.3:p.(Ser17Phe)	NC_000008.10:g.143961180G>A	(Likely) benign	1 lab	d514c31600
11:118918440 HYOU1 G>A	11	118918440	118918440	G	A	HYOU1	c.2595+6C>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118918440G>A	(Likely) benign	1 lab	d5157015e9
4:79385216 FRAS1 C>T	4	79385216	79385216	C	T	FRAS1	c.6805C>T	NM_025074.7	NP_079350.5:p.(Arg2269Ter)	NC_000004.11:g.79385216C>T	(Likely) pathogenic	1 lab	d515dfae00
9:98220381 PTCH1 GC>G	9	98220381	98220383	GC	G	PTCH1	c.3081del	NM_000264.5	NP_000255.2:p.(Trp1027CysfsTer22)	NC_000009.11:g.98220383del	(Likely) pathogenic	1 lab	d8a3bae31d
14:102483881 DYNC1H1 C>CAGCT	14	102483881	102483885	C	CAGCT	DYNC1H1	c.8177+41_8177+44dup	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102483882_102483885dup	(Likely) benign	1 lab	d51c710dad
2:166732873 TTC21B G>A	2	166732873	166732873	G	A	TTC21B	c.3806-131C>T	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166732873G>A	(Likely) benign	1 lab	d51df3da13
9:138667300 KCNT1 C>T	9	138667300	138667300	C	T	KCNT1	c.2349+39C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138667300C>T	(Likely) benign	1 lab	d522861c10
1:236914924 ACTN2 T>C	1	236914924	236914924	T	C	ACTN2	c.1811T>C	NM_001103.3	NP_001094.1:p.(Met604Thr)	NC_000001.10:g.236914924T>C	(Likely) benign	1 lab	d5289a04cf
20:33001677 ITCH G>A	20	33001677	33001677	G	A	ITCH				NC_000020.10:g.33001677G>A	(Likely) benign	1 lab	d52ae8aef9
X:99920312 SRPX2 G>A	X	99920312	99920312	G	A	SRPX2	c.605G>A	NM_014467.2	NP_055282.1:p.(Arg202Gln)	NC_000023.10:g.99920312G>A	(Likely) benign	1 lab	d52bdcce26
20:60889960 LAMA5 C>G	20	60889960	60889960	C	G	LAMA5	c.8091G>C	NM_005560.4	NP_005551.3:p.(Leu2697=)	NC_000020.10:g.60889960C>G	(Likely) benign	1 lab	d52df09935
2:212495336 ERBB4 G>GAA	2	212495336	212495347	G	GAA	ERBB4	c.1947-19_1947-18dup	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212495346_212495347dup	(Likely) benign	1 lab	d52e61bcf1
2:166856385 SCN1A T>G	2	166856385	166856385	T	G	SCN1A	c.4285-99A>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166856385T>G	(Likely) benign	1 lab	d52f33a48e
5:14394252 TRIO C>T	5	14394252	14394252	C	T	TRIO	c.4311+13C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14394252C>T	(Likely) benign	1 lab	d53282dfe6
16:3293533 MEFV G>A	16	3293533	3293533	G	A	MEFV	c.1954C>T	NM_000243.2	NP_000234.1:p.(Arg652Cys)	NC_000016.9:g.3293533G>A	VUS	1 lab	d533c48158
9:101552663 ANKS6 C>T	9	101552663	101552663	C	T	ANKS6	c.585G>A	NM_173551.5	NP_775822.3:p.(Leu195=)	NC_000009.11:g.101552663C>T	(Likely) benign	1 lab	d534708d6e
2:216241254 FN1 T>C	2	216241254	216241254	T	C	FN1	c.5854A>G	NM_212482.2	NP_997647.1:p.(Ile1952Val)	NC_000002.11:g.216241254T>C	(Likely) benign	1 lab	d539689290
20:44050127 PIGT G>A	20	44050127	44050127	G	A	PIGT	c.1138G>A	NM_015937.6	NP_057021.2:p.(Ala380Thr)	NC_000020.10:g.44050127G>A	(Likely) benign	1 lab	d545de94ab
21:47418564 COL6A1 T>C	21	47418564	47418564	T	C	COL6A1	c.1611+217T>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47418564T>C	(Likely) benign	1 lab	d5497f02ea
17:48151351 ITGA3 C>T	17	48151351	48151351	C	T	ITGA3	c.1228C>T	NM_002204.4	NP_002195.1:p.(Leu410Phe)	NC_000017.10:g.48151351C>T	(Likely) benign	1 lab	d54d8d793a
15:55497906 RAB27A G>A	15	55497906	55497906	G	A	RAB27A	c.468-3C>T	NM_004580.5	NP_004571.2:p.?	NC_000015.9:g.55497906G>A	(Likely) benign	1 lab	d551182c2a
8:48794626 PRKDC C>A	8	48794626	48794626	C	A	PRKDC	c.4809G>T	NM_006904.6	NP_008835.5:p.(Gln1603His)	NC_000008.10:g.48794626C>A	(Likely) benign	1 lab	d56006a93f
4:6612956 MAN2B2 C>T	4	6612956	6612956	C	T	MAN2B2	c.2514C>T	NM_015274.3	NP_056089.1:p.(Ser838=)	NC_000004.11:g.6612956C>T	(Likely) benign	1 lab	d564da801d
16:89615765 SPG7 T>G	16	89615765	89615765	T	G	SPG7	c.1664-1137T>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89615765T>G	(Likely) benign	1 lab	d56dc070fd
1:158587772 SPTA1 C>T	1	158587772	158587772	C	T	SPTA1	c.6548+57G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158587772C>T	(Likely) benign	1 lab	d56f376ac5
17:43344806 MAP3K14 C>T	17	43344806	43344806	C	T	MAP3K14	c.2293G>A	NM_003954.5	NP_003945.2:p.(Val765Ile)	NC_000017.10:g.43344806C>T	(Likely) benign	1 lab	d573472a23
3:121980284 CASR C>T	3	121980284	121980284	C	T	CASR	c.493-91C>T	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.121980284C>T	(Likely) benign	1 lab	d5747a9e4b
5:90001237 ADGRV1 G>A	5	90001237	90001237	G	A	ADGRV1	c.8407G>A	NM_032119.4	NP_115495.3:p.(Ala2803Thr)	NC_000005.9:g.90001237G>A	(Likely) benign	1 lab	d5784f68f2
14:103395123 AMN C>T	14	103395123	103395123	C	T	AMN	c.324C>T	NM_030943.3	NP_112205.2:p.(Asp108=)	NC_000014.8:g.103395123C>T	(Likely) benign	1 lab	d57aac2d6e
5:169482407 DOCK2 A>G	5	169482407	169482407	A	G	DOCK2	c.4295+17A>G	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169482407A>G	(Likely) benign	1 lab	d57b8ee008
12:15734818 PTPRO C>T	12	15734818	15734818	C	T	PTPRO	c.3255+83C>T	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15734818C>T	(Likely) benign	1 lab	d57d67412e
20:8773090 PLCB1 G>C	20	8773090	8773090	G	C	PLCB1	c.3423+2182G>C	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8773090G>C	(Likely) benign	1 lab	d57e6a381f
1:182555588 RNASEL G>A	1	182555588	182555588	G	A	RNASEL	c.354C>T	NM_021133.4	NP_066956.1:p.(Val118=)	NC_000001.10:g.182555588G>A	(Likely) benign	1 lab	d58148f254
6:32946589 BRD2 C>T	6	32946589	32946589	C	T	BRD2	c.1842-278C>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946589C>T	(Likely) benign	1 lab	d584fb8463
5:149755340 TCOF1 G>T	5	149755340	149755340	G	T	TCOF1	c.1761G>T	NM_001135243.1	NP_001128715.1:p.(Gly587=)	NC_000005.9:g.149755340G>T	(Likely) benign	1 lab	d5877b776f
14:64634063 SYNE2 G>A	14	64634063	64634063	G	A	SYNE2	c.16718G>A	NM_182914.2	NP_878918.2:p.(Arg5573Gln)	NC_000014.8:g.64634063G>A	(Likely) benign	1 lab	d587edeb89
10:97096357 SORBS1 C>T	10	97096357	97096357	C	T	SORBS1				NC_000010.10:g.97096357C>T	(Likely) benign	1 lab	d58b5fcb12
12:21712744 GYS2 A>AG	12	21712744	21712745	A	AG	GYS2	c.1170-101_1170-100insC	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21712744_21712745insG	(Likely) benign	1 lab	d5904b91dd
9:131369980 SPTAN1 C>A	9	131369980	131369980	C	A	SPTAN1	c.4144C>A	NM_001130438.2	NP_001123910.1:p.(Gln1382Lys)	NC_000009.11:g.131369980C>A	VUS	1 lab	d594811ae0
9:136383984 MYMK C>T	9	136383984	136383984	C	T	MYMK	c.399+12G>A	NM_001080483.3	NP_001073952.1:p.?	NC_000009.11:g.136383984C>T	(Likely) benign	1 lab	d594940802
2:50724398 NRXN1 T>C	2	50724398	50724398	T	C	NRXN1	c.2879+73A>G	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50724398T>C	(Likely) benign	1 lab	d597210161
19:12776515 MAN2B1 A>C	19	12776515	12776515	A	C	MAN2B1	c.262+2T>G	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12776515A>C	(Likely) pathogenic	1 lab	d59bbc3402
16:3304529 MEFV G>C	16	3304529	3304529	G	C	MEFV	c.539C>G	NM_000243.2	NP_000234.1:p.(Pro180Arg)	NC_000016.9:g.3304529G>C	VUS	1 lab	d5a73678e5
19:7710210 STXBP2 A>G	19	7710210	7710210	A	G	STXBP2	c.1389+18A>G	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7710210A>G	(Likely) benign	1 lab	d5a890adfd
12:53451890 TNS2 AG>A	12	53451890	53451896	AG	A	TNS2	c.1095+10del	NM_170754.4	NP_736610.2:p.?	NC_000012.11:g.53451896del	(Likely) benign	1 lab	d5a8f01b43
17:78155455 CARD14 G>A	17	78155455	78155455	G	A	CARD14	c.211+7G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78155455G>A	(Likely) benign	1 lab	d5b0671a39
X:135314084 MAP7D3 G>A	X	135314084	135314084	G	A	MAP7D3	c.1032C>T	NM_024597.4	NP_078873.2:p.(Asp344=)	NC_000023.10:g.135314084G>A	(Likely) benign	1 lab	d5b2270636
5:177577897 NHP2 AG>A	5	177577897	177577901	AG	A	NHP2	c.327del	NM_017838.4	NP_060308.1:p.(Ser110LeufsTer17)	NC_000005.9:g.177577901del	(Likely) pathogenic	1 lab	d5b2d87c45
7:94050338 COL1A2 C>G	7	94050338	94050338	C	G	COL1A2	c.2313C>G	NM_000089.3	NP_000080.2:p.(Pro771=)	NC_000007.13:g.94050338C>G	(Likely) benign	1 lab	d5be114d43
13:52532657 ATP7B G>A	13	52532657	52532657	G	A	ATP7B	c.2145C>T	NM_000053.4	NP_000044.2:p.(Tyr715=)	NC_000013.10:g.52532657G>A	(Likely) pathogenic	1 lab	d5bf6de8e0
1:155161108 MUC1 G>C	1	155161108	155161108	G	C	MUC1	c.462-16C>G	NM_001204286.1	NP_001191215.1:p.?	NC_000001.10:g.155161108G>C	(Likely) benign	1 lab	d5c441ce24
15:28419539 HERC2 A>T	15	28419539	28419539	A	T	HERC2	c.10057+2T>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28419539A>T	(Likely) pathogenic	1 lab	d5c4507355
9:124064324 GSN C>G	9	124064324	124064324	C	G	GSN	c.228C>G	NM_000177.5	NP_000168.1:p.(Phe76Leu)	NC_000009.11:g.124064324C>G	(Likely) benign	1 lab	d5c5710c7b
2:3627693 RPS7 C>CT	2	3627693	3627697	C	CT	RPS7	c.357-3dup	NM_001011.4	NP_001002.1:p.?	NC_000002.11:g.3627697dup	(Likely) benign	1 lab	d5c98032e8
3:138433568 PIK3CB C>T	3	138433568	138433568	C	T	PIK3CB	c.1051-7G>A	NM_006219.3	NP_006210.1:p.?	NC_000003.11:g.138433568C>T	(Likely) benign	1 lab	d5ccfe3fd5
7:73474830 ELN A>G	7	73474830	73474830	A	G	ELN	c.1833A>G	NM_001278939.1	NP_001265868.1:p.(Ala611=)	NC_000007.13:g.73474830A>G	(Likely) benign	1 lab	d5cfd38024
12:56137184 GDF11 CGCG>C	12	56137184	56137216	CGCG	C	GDF11	c.114_116del	NM_005811.5	NP_005802.1:p.(Ala41del)	NC_000012.11:g.56137214_56137216del	(Likely) benign	1 lab	d5d0b0248e
4:79417863 FRAS1 G>A	4	79417863	79417863	G	A	FRAS1	c.8959-96G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79417863G>A	(Likely) benign	1 lab	d5d2b2cded
19:36336292 NPHS1 G>A	19	36336292	36336292	G	A	NPHS1	c.1908C>T	NM_004646.3	NP_004637.1:p.(Ser636=)	NC_000019.9:g.36336292G>A	(Likely) benign	1 lab	d5d3816d51
1:985657 AGRN G>A	1	985657	985657	G	A	AGRN	c.4924G>A	NM_198576.4	NP_940978.2:p.(Gly1642Ser)	NC_000001.10:g.985657G>A	VUS	1 lab	da59209a3f
X:31645860 DMD T>C	X	31645860	31645860	T	C	DMD	c.8147A>G	NM_004006.2	NP_003997.1:p.(Gln2716Arg)	NC_000023.10:g.31645860T>C	(Likely) benign	1 lab	d5d5572e3f
4:107249343 AIMP1 C>T	4	107249343	107249343	C	T	AIMP1	c.334C>T	NM_004757.3	NP_004748.2:p.(Gln112Ter)	NC_000004.11:g.107249343C>T	(Likely) pathogenic	1 lab	d5dd3b754a
15:80452268 FAH G>A	15	80452268	80452268	G	A	FAH	c.314+49G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452268G>A	(Likely) benign	1 lab	d5e14f44f6
6:47547209 CD2AP T>A	6	47547209	47547209	T	A	CD2AP	c.992T>A	NM_012120.3	NP_036252.1:p.(Leu331His)	NC_000006.11:g.47547209T>A	(Likely) benign	1 lab	d5e19d3a7a
9:139405272 NOTCH1 G>A	9	139405272	139405272	G	A	NOTCH1	c.2588-15C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405272G>A	(Likely) benign	1 lab	d5e5801117
1:201038740 CACNA1S G>A	1	201038740	201038740	G	A	CACNA1S	c.2361-11C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201038740G>A	(Likely) benign	1 lab	d5e78fdabd
12:133240950 POLE A>G	12	133240950	133240950	A	G	POLE	c.2561+6T>C	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133240950A>G	(Likely) benign	1 lab	d5ef9abf89
5:484623 SLC9A3 G>T	5	484623	484623	G	T	SLC9A3	c.932+12C>A	NM_004174.4	NP_004165.2:p.?	NC_000005.9:g.484623G>T	(Likely) benign	1 lab	d5f20b71a9
18:28681901 DSC2 C>A	18	28681901	28681901	C	A	DSC2	c.34G>T	NM_004949.3	NP_004940.1:p.(Gly12Ter)	NC_000018.9:g.28681901C>A	(Likely) pathogenic	1 lab	d5f59694b7
10:21120395 NEBL G>C	10	21120395	21120395	G	C	NEBL	c.1560+7C>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21120395G>C	(Likely) benign	1 lab	d5fac02f6e
12:110012702 MVK C>T	12	110012702	110012702	C	T	MVK	c.75C>T	NM_000431.2	NP_000422.1:p.(Gly25=)	NC_000012.11:g.110012702C>T	(Likely) pathogenic	1 lab	d605dcf495
14:23242933 SLC7A7 G>A	14	23242933	23242933	G	A	SLC7A7	c.1430-8C>T	NM_001126106.2	NP_001119578.1:p.?	NC_000014.8:g.23242933G>A	(Likely) benign	1 lab	d60637d499
18:2921658 LPIN2 T>A	18	2921658	2921658	T	A	LPIN2	c.2328-13A>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2921658T>A	(Likely) benign	1 lab	d606aa4236
1:173934122 RC3H1 G>T	1	173934122	173934122	G	T	RC3H1	c.1471C>A	NM_172071.4	NP_742068.1:p.(Pro491Thr)	NC_000001.10:g.173934122G>T	(Likely) benign	1 lab	d613c16e8f
1:65301765 JAK1 G>T	1	65301765	65301765	G	T	JAK1	c.3258+16C>A	NM_002227.4	NP_002218.2:p.?	NC_000001.10:g.65301765G>T	(Likely) benign	1 lab	d616f8da43
4:151199013 LRBA G>A	4	151199013	151199013	G	A	LRBA	c.8457C>T	NM_001199282.2	NP_001186211.2:p.(Tyr2819=)	NC_000004.11:g.151199013G>A	(Likely) benign	1 lab	d617451eaf
1:237675024 RYR2 G>A	1	237675024	237675024	G	A	RYR2	c.2755G>A	NM_001035.3	NP_001026.2:p.(Val919Met)	NC_000001.10:g.237675024G>A	VUS	1 lab	d61759da9f
1:22207065 HSPG2 G>A	1	22207065	22207065	G	A	HSPG2	c.1999-13C>T	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22207065G>A	(Likely) benign	1 lab	d6187c6deb
5:177578009 NHP2 AAC>A	5	177578009	177578013	AAC	A	NHP2	c.231-17_231-16del	NM_017838.4	NP_060308.1:p.?	NC_000005.9:g.177578012_177578013del	(Likely) benign	1 lab	d61c6cdc3f
19:45540766 RELB C>T	19	45540766	45540766	C	T	RELB	c.1458C>T	NM_006509.4	NP_006500.2:p.(Asp486=)	NC_000019.9:g.45540766C>T	(Likely) benign	1 lab	d62001e680
19:55445728 NLRP7 C>T	19	55445728	55445728	C	T	NLRP7	c.2471+129G>A	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55445728C>T	(Likely) benign	1 lab	d62167860e
9:14848892 FREM1 A>G	9	14848892	14848892	A	G	FREM1	c.1153-121T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14848892A>G	(Likely) benign	1 lab	d6235c2a81
12:133220016 POLE G>GC	12	133220016	133220018	G	GC	POLE	c.4420dup	NM_006231.4	NP_006222.2:p.(Ala1474GlyfsTer71)	NC_000012.11:g.133220018dup	(Likely) pathogenic	1 lab	d8aab2f00f
X:73960187 NEXMIF T>C	X	73960187	73960187	T	C	NEXMIF	c.4205A>G	NM_001008537.3	NP_001008537.1:p.(Asn1402Ser)	NC_000023.10:g.73960187T>C	(Likely) benign	1 lab	d627f54b53
1:237993832 RYR2 C>G	1	237993832	237993832	C	G	RYR2	c.14658C>G	NM_001035.3	NP_001026.2:p.(Thr4886=)	NC_000001.10:g.237993832C>G	(Likely) benign	1 lab	d62bfaec4c
11:6413196 SMPD1 G>A	11	6413196	6413196	G	A	SMPD1	c.901G>A	NM_001318087.2	NP_001305016.1:p.(Val301Ile)	NC_000011.9:g.6413196G>A	(Likely) benign	1 lab	d62da158a6
15:77317648 PSTPIP1 C>T	15	77317648	77317648	C	T	PSTPIP1	c.236C>T	NM_003978.3	NP_003969.2:p.(Ser79Phe)	NC_000015.9:g.77317648C>T	(Likely) benign	1 lab	d6356e237e
8:17882941 PCM1 G>A	8	17882941	17882941	G	A	PCM1	c.5913G>A	NM_006197.4	NP_006188.4:p.(Leu1971=)	NC_000008.10:g.17882941G>A	(Likely) benign	1 lab	d6360aa71d
12:103238151 PAH T>C	12	103238151	103238151	T	C	PAH	c.1028A>G	NM_000277.3	NP_000268.1:p.(Tyr343Cys)	NC_000012.11:g.103238151T>C	(Likely) pathogenic	1 lab	d638b45c4c
2:179517614 TTN AG>A	2	179517614	179517617	AG	A	TTN	c.38919del	NM_001267550.2	NP_001254479.2:p.(Leu12974TrpfsTer104)	NC_000002.11:g.179517617del	VUS	1 lab	d640d90999
1:16371180 CLCNKB C>T	1	16371180	16371180	C	T	CLCNKB	c.100+93C>T	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16371180C>T	(Likely) benign	1 lab	d642212306
15:91358322 BLM C>T	15	91358322	91358322	C	T	BLM	c.4077-10C>T	NM_000057.2	NP_000048.1:p.?	NC_000015.9:g.91358322C>T	(Likely) benign	1 lab	d642d8b90e
X:18593629 CDKL5 A>G	X	18593629	18593629	A	G	CDKL5	c.282+19A>G	NM_001037343.1	NP_001032420.1:p.?	NC_000023.10:g.18593629A>G	(Likely) benign	1 lab	d6917f1362
16:2115634 TSC2 C>T	16	2115634	2115634	C	T	TSC2	c.1714C>T	NM_000548.5	NP_000539.2:p.(Gln572Ter)	NC_000016.9:g.2115634C>T	(Likely) pathogenic	1 lab	d8b1c49fde
2:179629522 TTN T>C	2	179629522	179629522	T	C	TTN	c.9720A>G	NM_001267550.1	NP_001254479.1:p.(Gln3240=)	NC_000002.11:g.179629522T>C	VUS	1 lab	d64cb1f20a
1:154573723 ADAR A>G	1	154573723	154573723	A	G	ADAR	c.1395T>C	NM_001111.5	NP_001102.3:p.(Ser465=)	NC_000001.10:g.154573723A>G	(Likely) benign	1 lab	d64d4de9ab
16:75269620 BCAR1 G>A	16	75269620	75269620	G	A	BCAR1	c.1315C>T	NM_001170714.3	NP_001164185.1:p.(Arg439Trp)	NC_000016.9:g.75269620G>A	(Likely) benign	1 lab	d64e61118d
17:45017781 GOSR2 A>G	17	45017781	45017781	A	G	GOSR2	c.*1655A>G	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45017781A>G	(Likely) benign	1 lab	d650116dab
1:156107037 LMNA G>A	1	156107037	156107037	G	A	LMNA				NC_000001.10:g.156107037G>A	VUS	1 lab	d6529de14b
6:31935714 SKIC2 T>C	6	31935714	31935714	T	C	SKIC2	c.2732-19T>C	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31935714T>C	(Likely) benign	1 lab	d659f69c77
X:73963413 NEXMIF G>T	X	73963413	73963413	G	T	NEXMIF	c.979C>A	NM_001008537.3	NP_001008537.1:p.(Leu327Ile)	NC_000023.10:g.73963413G>T	VUS	1 lab	d8b1dc1e71
1:247588152 NLRP3 C>T	1	247588152	247588152	C	T	NLRP3	c.1401C>T	NM_001243133.2	NP_001230062.1:p.(Leu467=)	NC_000001.10:g.247588152C>T	(Likely) benign	1 lab	d65bf837f2
17:42336783 SLC4A1 G>A	17	42336783	42336783	G	A	SLC4A1	c.695-71C>T	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42336783G>A	(Likely) benign	1 lab	d6603e57dd
X:99662459 PCDH19 G>A	X	99662459	99662459	G	A	PCDH19	c.1137C>T	NM_001184880.2	NP_001171809.1:p.(Gly379=)	NC_000023.10:g.99662459G>A	(Likely) benign	1 lab	d6609ea688
1:154542255 CHRNB2 T>C	1	154542255	154542255	T	C	CHRNB2	c.211-13T>C	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154542255T>C	(Likely) benign	1 lab	d66179e537
16:29825640 PRRT2 C>T	16	29825640	29825640	C	T	PRRT2	c.880-14C>T	NM_145239.2	NP_660282.2:p.?	NC_000016.9:g.29825640C>T	(Likely) benign	1 lab	d662b29ce2
10:15655678 ITGA8 A>G	10	15655678	15655678	A	G	ITGA8	c.1534T>C	NM_003638.3	NP_003629.2:p.(Ser512Pro)	NC_000010.10:g.15655678A>G	(Likely) benign	1 lab	d6631119a0
12:52188436 SCN8A T>C	12	52188436	52188436	T	C	SCN8A	c.4795+11T>C	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52188436T>C	(Likely) benign	1 lab	d666061e1f
9:14775933 FREM1 C>T	9	14775933	14775933	C	T	FREM1	c.4711G>A	NM_144966.5	NP_659403.4:p.(Asp1571Asn)	NC_000009.11:g.14775933C>T	(Likely) benign	1 lab	d66aeb1721
20:35547933 SAMHD1 T>C	20	35547933	35547933	T	C	SAMHD1	c.697-11A>G	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35547933T>C	(Likely) benign	1 lab	d66b9dc13d
12:88472757 CEP290 C>T	12	88472757	88472757	C	T	CEP290	c.5364+112G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88472757C>T	(Likely) benign	1 lab	d66ebe423b
15:53815527 WDR72 A>AAGAG	15	53815527	53815550	A	AAGAG	WDR72	c.3149-12_3149-9dup	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.53815547_53815550dup	(Likely) benign	1 lab	d66f1ffacd
2:228159660 COL4A3 G>GT	2	228159660	228159676	G	GT	COL4A3	c.3419-4dup	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159676dup	(Likely) benign	1 lab	d6a107bc35
11:837537 CD151 T>C	11	837537	837537	T	C	CD151	c.534T>C	NM_004357.5	NP_004348.2:p.(Arg178=)	NC_000011.9:g.837537T>C	(Likely) benign	1 lab	d8b5712616
1:155311812 ASH1L A>C	1	155311812	155311812	A	C	ASH1L	c.8375T>G	NM_018489.3	NP_060959.2:p.(Ile2792Ser)	NC_000001.10:g.155311812A>C	VUS	1 lab	d8b61bd80f
12:10271133 CLEC7A A>C	12	10271133	10271133	A	C	CLEC7A	c.668T>G	NM_197947.2	NP_922938.1:p.(Ile223Ser)	NC_000012.11:g.10271133A>C	(Likely) benign	1 lab	d68c93c5db
9:405072 DOCK8 A>G	9	405072	405072	A	G	DOCK8	c.3389A>G	NM_203447.3	NP_982272.2:p.(Gln1130Arg)	NC_000009.11:g.405072A>G	(Likely) pathogenic	1 lab	d68f30b7ed
1:158656347 SPTA1 C>CAGAG	1	158656347	158656366	C	CAGAG	SPTA1	c.-44_-41dup	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656363_158656366dup	(Likely) benign	1 lab	d692406c41
7:135276239 NUP205 G>A	7	135276239	135276239	G	A	NUP205	c.1515G>A	NM_015135.2	NP_055950.1:p.(Leu505=)	NC_000007.13:g.135276239G>A	(Likely) benign	1 lab	d699f86610
2:220290664 DES T>TC	2	220290664	220290668	T	TC	DES	c.1372-3dup	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290668dup	(Likely) benign	1 lab	d69c7be2f0
2:179398866 TTN AT>A	2	179398866	179398870	AT	A	TTN	c.102475del	NM_001267550.2	NP_001254479.2:p.(Ile34159LeufsTer10)	NC_000002.11:g.179398870del	(Likely) pathogenic	1 lab	d69e05ca8b
2:98354479 ZAP70 A>G	2	98354479	98354479	A	G	ZAP70	c.1645A>G	NM_001079.3	NP_001070.2:p.(Met549Val)	NC_000002.11:g.98354479A>G	(Likely) benign	1 lab	d6a02ca580
3:38592052 SCN5A G>A	3	38592052	38592052	G	A	SCN5A	c.5811C>T	NM_001099404.1	NP_001092874.1:p.(Ser1937=)	NC_000003.11:g.38592052G>A	(Likely) benign	1 lab	d6a4d8a726
20:18460835 POLR3F G>A	20	18460835	18460835	G	A	POLR3F	c.450+10G>A	NM_001282526.2	NP_001269455.1:p.?	NC_000020.10:g.18460835G>A	(Likely) benign	1 lab	d6a85afcc0
1:237969557 RYR2 T>A	1	237969557	237969557	T	A	RYR2	c.14272T>A	NM_001035.3	NP_001026.2:p.(Ser4758Thr)	NC_000001.10:g.237969557T>A	VUS	1 lab	d8b7320589
9:137688732 COL5A1 A>G	9	137688732	137688732	A	G	COL5A1	c.2883A>G	NM_000093.4	NP_000084.3:p.(Gly961=)	NC_000009.11:g.137688732A>G	(Likely) benign	1 lab	d6b22c997f
4:155505591 FGA C>T	4	155505591	155505591	C	T	FGA	c.2286G>A	NM_000508.3	NP_000499.1:p.(Ala762=)	NC_000004.11:g.155505591C>T	VUS	1 lab	d6e2df44d4
4:170508755 NEK1 CCAAATGT>C	4	170508755	170508764	CCAAATGT	C	NEK1	c.554_560del	NM_001199397.3	NP_001186326.1:p.(Asp185GlyfsTer22)	NC_000004.11:g.170508758_170508764del	(Likely) pathogenic	1 lab	d6bb1b4143
8:100182411 VPS13B A>G	8	100182411	100182411	A	G	VPS13B	c.2333+20A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100182411A>G	(Likely) benign	1 lab	d6bcf7b119
X:107683387 COL4A5 G>A	X	107683387	107683387	G	A	COL4A5	c.32G>A	NM_000495.5	NP_000486.1:p.(Gly11Asp)	NC_000023.10:g.107683387G>A	VUS	1 lab	d8bae16dfe
9:14801769 FREM1 C>T	9	14801769	14801769	C	T	FREM1	c.3575G>A	NM_144966.5	NP_659403.4:p.(Arg1192His)	NC_000009.11:g.14801769C>T	(Likely) benign	1 lab	d6cf444f01
18:2778257 SMCHD1 T>C	18	2778257	2778257	T	C	SMCHD1	c.5547+20T>C	NM_015295.2	NP_056110.2:p.?	NC_000018.9:g.2778257T>C	(Likely) benign	1 lab	d6d7059994
2:166245230 SCN2A T>A	2	166245230	166245230	T	A	SCN2A	c.4914T>A	NM_021007.3	NP_066287.2:p.(Arg1638=)	NC_000002.11:g.166245230T>A	(Likely) benign	1 lab	d6d849968f
1:154542092 CHRNB2 A>G	1	154542092	154542092	A	G	CHRNB2	c.210+9A>G	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154542092A>G	(Likely) benign	1 lab	d6d9db09a4
16:14029258 ERCC4 G>A	16	14029258	14029258	G	A	ERCC4	c.1469G>A	NM_005236.2	NP_005227.1:p.(Arg490Gln)	NC_000016.9:g.14029258G>A	(Likely) benign	1 lab	d6db324e99
20:62320470 RTEL1 G>A	20	62320470	62320470	G	A	RTEL1	c.1194G>A	NM_001283010.1	NP_001269939.1:p.(Ala398=)	NC_000020.10:g.62320470G>A	(Likely) benign	1 lab	d6db99cd62
1:22155353 HSPG2 G>A	1	22155353	22155353	G	A	HSPG2	c.12212C>T	NM_005529.6	NP_005520.4:p.(Ala4071Val)	NC_000001.10:g.22155353G>A	(Likely) benign	1 lab	d6dee956ca
X:64958383 MSN G>A	X	64958383	64958383	G	A	MSN	c.1252-4G>A	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64958383G>A	(Likely) benign	1 lab	d6df482b78
1:151314956 RFX5 C>T	1	151314956	151314956	C	T	RFX5	c.1557G>A	NM_000449.3	NP_000440.1:p.(Gly519=)	NC_000001.10:g.151314956C>T	(Likely) benign	1 lab	d6e06990ed
18:47429022 MYO5B C>T	18	47429022	47429022	C	T	MYO5B	c.2753G>A	NM_001080467.3	NP_001073936.1:p.(Arg918His)	NC_000018.9:g.47429022C>T	(Likely) benign	1 lab	d6e7cb9fad
15:57929927 MYZAP A>G	15	57929927	57929927	A	G	MYZAP	c.968A>G	NM_001018100.5	NP_001018110.1:p.(His323Arg)	NC_000015.9:g.57929927A>G	(Likely) benign	1 lab	d6e7ff6fbb
1:172634757 FASLG T>C	1	172634757	172634757	T	C	FASLG	c.452-5T>C	NM_000639.1	NP_000630.1:p.?	NC_000001.10:g.172634757T>C	(Likely) benign	1 lab	d6eca2fb5f
12:53823175 AMHR2 CA>C	12	53823175	53823188	CA	C	AMHR2	c.968-49del	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53823188del	(Likely) benign	1 lab	d70774e9f4
2:166199086 SCN2A A>G	2	166199086	166199086	A	G	SCN2A	c.2562+107A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166199086A>G	(Likely) benign	1 lab	d70ddf38c8
8:41548044 ANK1 C>T	8	41548044	41548044	C	T	ANK1	c.3932G>A	NM_000037.4	NP_000028.3:p.(Arg1311Gln)	NC_000008.10:g.41548044C>T	(Likely) pathogenic	1 lab	d70f10650c
5:37211816 CPLANE1 C>T	5	37211816	37211816	C	T	CPLANE1	c.2920+1845G>A	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37211816C>T	(Likely) benign	1 lab	d711dd5719
15:93444066 CHD2 A>G	15	93444066	93444066	A	G	CHD2	c.-72+12A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93444066A>G	(Likely) benign	1 lab	d713185743
1:201333493 TNNT2 C>G	1	201333493	201333493	C	G	TNNT2	c.392G>C	NM_001276347.2	NP_001263276.1:p.(Arg131Pro)	NC_000001.10:g.201333493C>G	(Likely) pathogenic	1 lab	d71765e11a
12:6442983 TNFRSF1A C>A	12	6442983	6442983	C	A	TNFRSF1A	c.242G>T	NM_001065.3	NP_001056.1:p.(Cys81Phe)	NC_000012.11:g.6442983C>A	(Likely) pathogenic	1 lab	d71c652dd2
16:29824787 PRRT2 C>G	16	29824787	29824787	C	G	PRRT2	c.412C>G	NM_145239.2	NP_660282.2:p.(Pro138Ala)	NC_000016.9:g.29824787C>G	(Likely) benign	1 lab	d71d09bbc6
19:50165603 IRF3 C>A	19	50165603	50165603	C	A	IRF3	c.602-18G>T	NM_001571.6	NP_001562.1:p.?	NC_000019.9:g.50165603C>A	(Likely) benign	1 lab	d71d530b04
2:27305846 EMILIN1 G>A	2	27305846	27305846	G	A	EMILIN1	c.1407G>A	NM_007046.4	NP_008977.1:p.(Glu469=)	NC_000002.11:g.27305846G>A	(Likely) benign	1 lab	d723ee0988
13:39424253 FREM2 C>G	13	39424253	39424253	C	G	FREM2	c.6458C>G	NM_207361.6	NP_997244.4:p.(Thr2153Ser)	NC_000013.10:g.39424253C>G	(Likely) benign	1 lab	d7259a43cd
16:50750826 NOD2 C>T	16	50750826	50750826	C	T	NOD2	c.2571C>T	NM_022162.1	NP_071445.1:p.(Asp857=)	NC_000016.9:g.50750826C>T	(Likely) benign	1 lab	d7264fed91
17:18152692 FLII C>T	17	18152692	18152692	C	T	FLII	c.1774G>A	NM_001256264.2	NP_001243193.1:p.(Gly592Ser)	NC_000017.10:g.18152692C>T	VUS	1 lab	d7271b6036
1:155264448 PKLR G>A	1	155264448	155264448	G	A	PKLR	c.790C>T	NM_000298.6	NP_000289.1:p.(Leu264=)	NC_000001.10:g.155264448G>A	(Likely) benign	1 lab	d72c5fca86
19:13441341 CACNA1A A>T	19	13441341	13441341	A	T	CACNA1A	c.1256-191T>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13441341A>T	(Likely) benign	1 lab	d72d88ee8c
22:32194675 DEPDC5 T>C	22	32194675	32194675	T	C	DEPDC5	c.946+33T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32194675T>C	(Likely) benign	1 lab	d7832bebfe
17:80050554 FASN CGG>C	17	80050554	80050566	CGG	C	FASN	c.894+17_894+18del	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80050565_80050566del	(Likely) benign	1 lab	d7311d7b7e
7:116423414 MET A>G	7	116423414	116423414	A	G	MET	c.3743A>G	NM_001127500.1	NP_001120972.1:p.(Tyr1248Cys)	NC_000007.13:g.116423414A>G	(Likely) pathogenic	1 lab	d7312d474d
13:32915374 BRCA2 T>A	13	32915374	32915374	T	A	BRCA2	c.6841+41T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915374T>A	(Likely) benign	1 lab	d732cf26a5
2:166856282 SCN1A G>T	2	166856282	166856282	G	T	SCN1A	c.4289C>A	NM_001165963.3	NP_001159435.1:p.(Thr1430Lys)	NC_000002.11:g.166856282G>T	(Likely) pathogenic	1 lab	d7386fb97e
3:87276748 CHMP2B T>G	3	87276748	87276748	T	G	CHMP2B	c.34+42T>G	NM_014043.4	NP_054762.2:p.?	NC_000003.11:g.87276748T>G	(Likely) benign	1 lab	d73badcf78
12:88479815 CEP290 C>T	12	88479815	88479815	C	T	CEP290	c.4437+1G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88479815C>T	(Likely) pathogenic	1 lab	d73d4cffed
10:72631760 SGPL1 A>T	10	72631760	72631760	A	T	SGPL1	c.1059+17A>T	NM_003901.4	NP_003892.2:p.?	NC_000010.10:g.72631760A>T	(Likely) benign	1 lab	d73e0741f4
2:179412379 TTN G>T	2	179412379	179412379	G	T	TTN	c.93974C>A	NM_001267550.1	NP_001254479.1:p.(Ser31325Ter)	NC_000002.11:g.179412379G>T	(Likely) pathogenic	1 lab	d73e5ef130
15:42677739 CAPN3 G>A	15	42677739	42677739	G	A	CAPN3	c.380-626G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42677739G>A	(Likely) benign	1 lab	d73e8922ea
19:54301663 NLRP12 C>G	19	54301663	54301663	C	G	NLRP12	c.2761G>C	NM_144687.4	NP_653288.1:p.(Gly921Arg)	NC_000019.9:g.54301663C>G	(Likely) benign	1 lab	d744938c60
7:24758818 GSDME G>T	7	24758818	24758818	G	T	GSDME	c.424C>A	NM_004403.3	NP_004394.1:p.(Pro142Thr)	NC_000007.13:g.24758818G>T	(Likely) benign	1 lab	d8bd630244
19:50165358 IRF3 C>T	19	50165358	50165358	C	T	IRF3	c.724G>A	NM_001197123.2	NP_001184052.1:p.(Ala242Thr)	NC_000019.9:g.50165358C>T	(Likely) benign	1 lab	d75570ea84
20:45174847 OCSTAMP C>T	20	45174847	45174847	C	T	OCSTAMP	c.166G>A	NM_080721.3	NP_542452.1:p.(Ala56Thr)	NC_000020.10:g.45174847C>T	(Likely) benign	1 lab	d756544a9a
4:126372056 FAT4 G>A	4	126372056	126372056	G	A	FAT4	c.9891G>A	NM_001291303.1	NP_001278232.1:p.(Val3297=)	NC_000004.11:g.126372056G>A	(Likely) benign	1 lab	d757ce800e
3:63981676 ATXN7 T>C	3	63981676	63981676	T	C	ATXN7	c.2178T>C	NM_000333.3	NP_000324.1:p.(Ser726=)	NC_000003.11:g.63981676T>C	(Likely) benign	1 lab	d75db13edd
12:52184209 SCN8A G>A	12	52184209	52184209	G	A	SCN8A	c.4447G>A	NM_014191.4	NP_055006.1:p.(Glu1483Lys)	NC_000012.11:g.52184209G>A	(Likely) pathogenic	1 lab	d75e78c002
1:39775327 MACF1 C>T	1	39775327	39775327	C	T	MACF1	c.2890C>T	NM_012090.5	NP_036222.3:p.(Arg964Cys)	NC_000001.10:g.39775327C>T	VUS	1 lab	d8bd8c17bd
17:48265296 COL1A1 C>T	17	48265296	48265296	C	T	COL1A1	c.3310G>A	NM_000088.4	NP_000079.2:p.(Asp1104Asn)	NC_000017.10:g.48265296C>T	VUS	1 lab	d8bdf01079
10:73111532 SLC29A3 G>A	10	73111532	73111532	G	A	SLC29A3	c.597G>A	NM_018344.6	NP_060814.4:p.(Gln199=)	NC_000010.10:g.73111532G>A	(Likely) benign	1 lab	d767be2088
5:94852092 SKIC3 A>C	5	94852092	94852092	A	C	SKIC3	c.2599T>G	NM_014639.3	NP_055454.1:p.(Leu867Val)	NC_000005.9:g.94852092A>C	(Likely) benign	1 lab	d76c2eccd0
22:32215259 DEPDC5 C>CT	22	32215259	32215260	C	CT	DEPDC5	c.1870+49dup	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32215260dup	(Likely) benign	1 lab	d77219f068
15:93545401 CHD2 T>C	15	93545401	93545401	T	C	CHD2	c.4138-6T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93545401T>C	(Likely) benign	1 lab	d77753df82
4:167012286 TLL1 A>G	4	167012286	167012286	A	G	TLL1	c.2449A>G	NM_012464.5	NP_036596.3:p.(Ser817Gly)	NC_000004.11:g.167012286A>G	(Likely) benign	1 lab	d779027aa1
5:94878992 SKIC3 C>T	5	94878992	94878992	C	T	SKIC3	c.130G>A	NM_014639.3	NP_055454.1:p.(Val44Ile)	NC_000005.9:g.94878992C>T	(Likely) benign	1 lab	d7819c1b21
22:18907014 PRODH A>G	22	18907014	18907014	A	G	PRODH	c.1201T>C	NM_016335.6	NP_057419.5:p.(Phe401Leu)	NC_000022.10:g.18907014A>G	VUS	1 lab	d8be678a05
15:41222855 DLL4 C>T	15	41222855	41222855	C	T	DLL4	c.369C>T	NM_019074.4	NP_061947.1:p.(His123=)	NC_000015.9:g.41222855C>T	(Likely) benign	1 lab	d78629ff9b
9:14817042 FREM1 C>T	9	14817042	14817042	C	T	FREM1	c.2547-173G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14817042C>T	(Likely) benign	1 lab	d79024d9e6
12:110034360 MVK A>C	12	110034360	110034360	A	C	MVK	c.1169A>C	NM_000431.2	NP_000422.1:p.(Gln390Pro)	NC_000012.11:g.110034360A>C	(Likely) pathogenic	1 lab	d791411c7d
17:41201061 BRCA1 G>A	17	41201061	41201061	G	A	BRCA1	c.5406+77C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201061G>A	(Likely) benign	1 lab	d7924b733d
3:164748660 SI G>T	3	164748660	164748660	G	T	SI	c.2737-5C>A	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164748660G>T	(Likely) benign	1 lab	d79c748fd4
19:11231335 LDLR A>G	19	11231335	11231335	A	G	LDLR	c.2140+137A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231335A>G	(Likely) benign	1 lab	264f51c710
16:2154494 PKD1 G>A	16	2154494	2154494	G	A	PKD1	c.8161+5C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2154494G>A	(Likely) benign	1 lab	d7b096cc78
3:47030997 NBEAL2 C>T	3	47030997	47030997	C	T	NBEAL2	c.474-4C>T	NM_015175.2	NP_055990.1:p.?	NC_000003.11:g.47030997C>T	(Likely) benign	1 lab	d7b1d061ff
8:74893757 TMEM70 C>G	8	74893757	74893757	C	G	TMEM70	c.684C>G	NM_017866.6	NP_060336.3:p.(Asn228Lys)	NC_000008.10:g.74893757C>G	(Likely) benign	1 lab	d7b82a5c7d
X:40464934 ATP6AP2 A>G	X	40464934	40464934	A	G	ATP6AP2	c.980A>G	NM_005765.3	NP_005756.2:p.(Asn327Ser)	NC_000023.10:g.40464934A>G	(Likely) benign	1 lab	d7b90f6c47
22:36718457 MYH9 G>A	22	36718457	36718457	G	A	MYH9	c.705+17C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36718457G>A	(Likely) benign	1 lab	d7b98bbfe3
8:143957246 CYP11B1 T>C	8	143957246	143957246	T	C	CYP11B1	c.1003A>G	NM_000497.3	NP_000488.3:p.(Asn335Asp)	NC_000008.10:g.143957246T>C	(Likely) benign	1 lab	d7bb2c496e
3:77671529 ROBO2 G>A	3	77671529	77671529	G	A	ROBO2	c.3706G>A	NM_002942.5	NP_002933.1:p.(Ala1236Thr)	NC_000003.11:g.77671529G>A	(Likely) pathogenic	1 lab	d7bc990b88
4:2831321 SH3BP2 G>T	4	2831321	2831321	G	T	SH3BP2	c.772G>T	NM_001145855.2	NP_001139327.1:p.(Gly258Cys)	NC_000004.11:g.2831321G>T	(Likely) benign	1 lab	d7bee331e6
10:78872281 KCNMA1 C>T	10	78872281	78872281	C	T	KCNMA1	c.885-81G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78872281C>T	(Likely) benign	1 lab	d7c08ed404
17:73736128 ITGB4 G>A	17	73736128	73736128	G	A	ITGB4	c.2422G>A	NM_000213.5	NP_000204.3:p.(Ala808Thr)	NC_000017.10:g.73736128G>A	(Likely) benign	1 lab	d7c12336b5
7:131241029 PODXL GGGCGACGGCGAC>G	7	131241029	131241054	GGGCGACGGCGAC	G	PODXL	c.78_89del	NM_001018111.3	NP_001018121.1:p.(Pro28_Ser31del)	NC_000007.13:g.131241043_131241054del	(Likely) benign	1 lab	d7c20c731f
5:137013243 KLHL3 T>C	5	137013243	137013243	T	C	KLHL3	c.627A>G	NM_017415.3	NP_059111.2:p.(Ser209=)	NC_000005.9:g.137013243T>C	(Likely) benign	1 lab	d7cad2123a
7:128486190 FLNC C>T	7	128486190	128486190	C	T	FLNC	c.3937C>T	NM_001458.4	NP_001449.3:p.(Arg1313Ter)	NC_000007.13:g.128486190C>T	(Likely) pathogenic	1 lab	d7cbd20475
1:237875037 RYR2 CTTCT>C	1	237875037	237875041	CTTCT	C	RYR2	c.10231-7_10231-4del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237875038_237875041del	(Likely) benign	1 lab	d8bf8d8995
16:2816794 SRRM2 C>T	16	2816794	2816794	C	T	SRRM2	c.6265C>T	NM_016333.4	NP_057417.3:p.(Arg2089Ter)	NC_000016.9:g.2816794C>T	(Likely) pathogenic	1 lab	d7cc28ef02
1:16044467 PLEKHM2 G>C	1	16044467	16044467	G	C	PLEKHM2	c.357G>C	NM_015164.4	NP_055979.2:p.(Leu119=)	NC_000001.10:g.16044467G>C	(Likely) benign	1 lab	d7cc722baa
1:85741982 BCL10 C>T	1	85741982	85741982	C	T	BCL10	c.54G>A	NM_003921.5	NP_003912.1:p.(Lys18=)	NC_000001.10:g.85741982C>T	(Likely) benign	1 lab	d7cf7acaaa
2:110960031 NPHP1 G>A	2	110960031	110960031	G	A	NPHP1	c.70-960C>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110960031G>A	(Likely) benign	1 lab	d7d2c563f1
20:62070083 KCNQ2 A>T	20	62070083	62070083	A	T	KCNQ2	c.928-10T>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62070083A>T	VUS	1 lab	d7d2f6a133
17:42335685 SLC4A1 G>A	17	42335685	42335685	G	A	SLC4A1	c.1087+96C>T	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42335685G>A	(Likely) benign	1 lab	d7d3251795
19:11289037 KANK2 C>T	19	11289037	11289037	C	T	KANK2	c.1504G>A	NM_001136191.2	NP_001129663.1:p.(Val502Met)	NC_000019.9:g.11289037C>T	(Likely) benign	1 lab	d7d6527770
5:125887693 ALDH7A1 C>T	5	125887693	125887693	C	T	ALDH7A1	c.1317+20G>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125887693C>T	(Likely) benign	1 lab	d7d7a69f51
4:151236693 LRBA G>A	4	151236693	151236693	G	A	LRBA	c.7693+20C>T	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151236693G>A	(Likely) benign	1 lab	d7df01053c
3:53220206 PRKCD C>G	3	53220206	53220206	C	G	PRKCD	c.1110C>G	NM_006254.4	NP_006245.2:p.(Gly370=)	NC_000003.11:g.53220206C>G	(Likely) benign	1 lab	d7e0fb3def
5:55147460 IL31RA T>C	5	55147460	55147460	T	C	IL31RA	c.62T>C	NM_139017.6	NP_620586.3:p.(Ile21Thr)	NC_000005.9:g.55147460T>C	(Likely) benign	1 lab	d7e14c0a34
14:35871225 NFKBIA C>T	14	35871225	35871225	C	T	NFKBIA	c.948G>A	NM_020529.2	NP_065390.1:p.(Thr316=)	NC_000014.8:g.35871225C>T	(Likely) benign	1 lab	d7e5b41355
X:47433597 SYN1 C>A	X	47433597	47433597	C	A	SYN1	c.1786G>T	NM_133499.2	NP_598006.1:p.(Gly596Cys)	NC_000023.10:g.47433597C>A	VUS	1 lab	d7ec12804e
X:18622811 CDKL5 C>T	X	18622811	18622811	C	T	CDKL5	c.1767C>T	NM_001323289.2	NP_001310218.1:p.(His589=)	NC_000023.10:g.18622811C>T	(Likely) benign	1 lab	d7ec88ce36
20:54823930 MC3R C>T	20	54823930	54823930	C	T	MC3R	c.31C>T	NM_019888.3	NP_063941.3:p.(Gln11Ter)	NC_000020.10:g.54823930C>T	(Likely) pathogenic	1 lab	d7f11553e4
7:47917169 PKD1L1 C>G	7	47917169	47917169	C	G	PKD1L1	c.3581G>C	NM_138295.5	NP_612152.1:p.(Arg1194Pro)	NC_000007.13:g.47917169C>G	VUS	1 lab	d7f77c043e
5:112179362 APC A>G	5	112179362	112179362	A	G	APC				NC_000005.9:g.112179362A>G	VUS	1 lab	d7f7840ffb
3:49139291 QARS1 G>A	3	49139291	49139291	G	A	QARS1	c.673C>T	NM_005051.3	NP_005042.1:p.(Arg225Trp)	NC_000003.11:g.49139291G>A	(Likely) benign	1 lab	d7f7db47fa
X:100615137 BTK G>A	X	100615137	100615137	G	A	BTK	c.880C>T	NM_001287344.1	NP_001274273.1:p.(Gln294Ter)	NC_000023.10:g.100615137G>A	(Likely) pathogenic	1 lab	d7f8e3f968
21:47549264 COL6A2 C>T	21	47549264	47549264	C	T	COL6A2	c.2616C>T	NM_058174.3	NP_478054.2:p.(Ala872=)	NC_000021.8:g.47549264C>T	(Likely) benign	1 lab	d7fc215ca9
11:117222444 CEP164 CT>C	11	117222444	117222454	CT	C	CEP164	c.195-52del	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117222454del	(Likely) benign	1 lab	d7fce84b2e
22:17690374 ADA2 G>A	22	17690374	17690374	G	A	ADA2	c.194C>T	NM_001282225.2	NP_001269154.1:p.(Thr65Met)	NC_000022.10:g.17690374G>A	(Likely) benign	1 lab	d7fda2f7cb
X:18602452 CDKL5 G>C	X	18602452	18602452	G	C	CDKL5	c.533G>C	NM_001037343.1	NP_001032420.1:p.(Arg178Pro)	NC_000023.10:g.18602452G>C	(Likely) pathogenic	1 lab	d808751aef
22:23917243 IGLL1 G>A	22	23917243	23917243	G	A	IGLL1				NC_000022.10:g.23917243G>A	(Likely) benign	1 lab	d814629177
17:78163600 CARD14 C>T	17	78163600	78163600	C	T	CARD14	c.892C>T	NM_024110.4	NP_077015.2:p.(Arg298Ter)	NC_000017.10:g.78163600C>T	VUS	1 lab	d816acc0f4
18:28660082 DSC2 T>C	18	28660082	28660082	T	C	DSC2	c.1500A>G	NM_004949.3	NP_004940.1:p.(Thr500=)	NC_000018.9:g.28660082T>C	(Likely) benign	1 lab	d817765b1a
X:153363116 MECP2 C>G	X	153363116	153363116	C	G	MECP2	c.7G>C	NM_001110792.2	NP_001104262.1:p.(Ala3Pro)	NC_000023.10:g.153363116C>G	(Likely) pathogenic	1 lab	d8c275bcaf
4:79420664 FRAS1 C>T	4	79420664	79420664	C	T	FRAS1	c.9116-211C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79420664C>T	(Likely) benign	1 lab	d81f6c89b7
9:36263577 GNE A>G	9	36263577	36263577	A	G	GNE	c.51+13314T>C	NM_001128227.3	NP_001121699.1:p.?	NC_000009.11:g.36263577A>G	(Likely) benign	1 lab	d8220c47a8
X:54482932 FGD1 G>A	X	54482932	54482932	G	A	FGD1	c.1695+10C>T	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54482932G>A	(Likely) benign	1 lab	d8222a9f91
17:42339118 SLC4A1 G>GC	17	42339118	42339121	G	GC	SLC4A1	c.107-115dup	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42339121dup	(Likely) benign	1 lab	d8234081a8
10:17113810 CUBN TTA>T	10	17113810	17113815	TTA	T	CUBN	c.2446+14_2446+15del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17113814_17113815del	(Likely) benign	1 lab	d823477b8c
2:166210992 SCN2A C>T	2	166210992	166210992	C	T	SCN2A	c.3210C>T	NM_021007.3	NP_066287.2:p.(Asp1070=)	NC_000002.11:g.166210992C>T	(Likely) benign	1 lab	d8268b1401
10:17113456 CUBN C>T	10	17113456	17113456	C	T	CUBN	c.2594G>A	NM_001081.3	NP_001072.2:p.(Ser865Asn)	NC_000010.10:g.17113456C>T	(Likely) benign	1 lab	d82710bf03
10:95931011 PLCE1 A>G	10	95931011	95931011	A	G	PLCE1	c.1567A>G	NM_016341.3	NP_057425.3:p.(Ile523Val)	NC_000010.10:g.95931011A>G	(Likely) benign	1 lab	d829e32682
19:51471329 KLK6 A>G	19	51471329	51471329	A	G	KLK6	c.32T>C	NM_002774.3	NP_002765.1:p.(Ile11Thr)	NC_000019.9:g.51471329A>G	(Likely) benign	1 lab	d82be76d24
14:55510284 SOCS4 G>A	14	55510284	55510284	G	A	SOCS4	c.525G>A	NM_199421.2	NP_955453.1:p.(Gln175=)	NC_000014.8:g.55510284G>A	(Likely) benign	1 lab	d82c662e85
15:25615646 UBE3A A>T	15	25615646	25615646	A	T	UBE3A	c.1617+67T>A	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25615646A>T	(Likely) benign	1 lab	d8314165cf
16:49670546 ZNF423 G>A	16	49670546	49670546	G	A	ZNF423	c.2517C>T	NM_015069.4	NP_055884.2:p.(Asn839=)	NC_000016.9:g.49670546G>A	(Likely) benign	1 lab	d832102828
1:43395439 SLC2A1 AGCT>A	1	43395439	43395442	AGCT	A	SLC2A1	c.689_691del	NM_006516.4	NP_006507.2:p.(Lys230_Leu231delinsMet)	NC_000001.10:g.43395440_43395442del	(Likely) pathogenic	1 lab	d8c2aa2694
2:228148536 COL4A3 G>A	2	228148536	228148536	G	A	COL4A3	c.2710G>A	NM_000091.4	NP_000082.2:p.(Gly904Arg)	NC_000002.11:g.228148536G>A	(Likely) pathogenic	1 lab	d836d66404
3:39229044 XIRP1 C>T	3	39229044	39229044	C	T	XIRP1	c.1893G>A	NM_194293.4	NP_919269.2:p.(Lys631=)	NC_000003.11:g.39229044C>T	(Likely) benign	1 lab	d83ac6328a
20:52773734 CYP24A1 G>A	20	52773734	52773734	G	A	CYP24A1	c.1529C>T	NM_000782.5	NP_000773.2:p.(Ala510Val)	NC_000020.10:g.52773734G>A	(Likely) benign	1 lab	d83f1a6d8a
1:154540307 CHRNB2 A>G	1	154540307	154540307	A	G	CHRNB2	c.-214A>G	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154540307A>G	(Likely) benign	1 lab	d84cc6dda7
X:153649048 TAFAZZIN C>T	X	153649048	153649048	C	T	TAFAZZIN	c.751C>T	NM_000116.5	NP_000107.1:p.(Arg251Trp)	NC_000023.10:g.153649048C>T	(Likely) benign	1 lab	d8520e1b0f
5:50687227 ISL1 C>T	5	50687227	50687227	C	T	ISL1	c.885C>T	NM_002202.3	NP_002193.2:p.(Ser295=)	NC_000005.9:g.50687227C>T	(Likely) benign	1 lab	d859e713af
18:25570060 CDH2 C>T	18	25570060	25570060	C	T	CDH2	c.1598+1G>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25570060C>T	VUS	1 lab	d8c3277fe2
2:113818479 IL36RN T>C	2	113818479	113818479	T	C	IL36RN	c.80T>C	NM_012275.2	NP_036407.1:p.(Leu27Pro)	NC_000002.11:g.113818479T>C	(Likely) pathogenic	1 lab	d85c7816a2
11:47371418 MYBPC3 AG>A	11	47371418	47371420	AG	A	MYBPC3	c.560del	NM_000256.3	NP_000247.2:p.(Pro187LeufsTer13)	NC_000011.9:g.47371420del	(Likely) pathogenic	1 lab	d85ee51a16
11:66478058 SPTBN2 C>T	11	66478058	66478058	C	T	SPTBN2	c.1068G>A	NM_006946.3	NP_008877.1:p.(Pro356=)	NC_000011.9:g.66478058C>T	(Likely) benign	1 lab	d8649d18d2
9:139391292 NOTCH1 C>T	9	139391292	139391292	C	T	NOTCH1	c.6899G>A	NM_017617.5	NP_060087.3:p.(Gly2300Glu)	NC_000009.11:g.139391292C>T	VUS	1 lab	d87411514c
X:152958375 SLC6A8 T>C	X	152958375	152958375	T	C	SLC6A8	c.778-121T>C	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152958375T>C	(Likely) benign	1 lab	d876475ae1
1:200961443 KIF21B G>A	1	200961443	200961443	G	A	KIF21B	c.2352C>T	NM_017596.4	NP_060066.2:p.(Ile784=)	NC_000001.10:g.200961443G>A	(Likely) benign	1 lab	d8c6c6c6b4
X:69247672 EDA CA>C	X	69247672	69247682	CA	C	EDA	c.527-25del	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69247682del	(Likely) benign	1 lab	d87960a06c
16:15865442 MYH11 G>A	16	15865442	15865442	G	A	MYH11	c.1038C>T	NM_001040113.2	NP_001035202.1:p.(Ser346=)	NC_000016.9:g.15865442G>A	(Likely) benign	1 lab	d879e087d6
4:151207143 LRBA A>G	4	151207143	151207143	A	G	LRBA	c.8058T>C	NM_001199282.2	NP_001186211.2:p.(Tyr2686=)	NC_000004.11:g.151207143A>G	(Likely) benign	1 lab	d87adc2ace
6:151754311 RMND1 G>A	6	151754311	151754311	G	A	RMND1	c.668C>T	NM_017909.4	NP_060379.2:p.(Pro223Leu)	NC_000006.11:g.151754311G>A	(Likely) benign	1 lab	d87c514896
10:16996563 CUBN C>A	10	16996563	16996563	C	A	CUBN	c.4696-16G>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16996563C>A	(Likely) benign	1 lab	d87eb2ba86
14:77492105 IRF2BPL C>T	14	77492105	77492105	C	T	IRF2BPL	c.2031G>A	NM_024496.4	NP_078772.1:p.(Gly677=)	NC_000014.8:g.77492105C>T	(Likely) benign	1 lab	d87f13c084
22:42322716 TNFRSF13C G>C	22	42322716	42322716	G	C	TNFRSF13C	c.62C>G	NM_052945.3	NP_443177.1:p.(Pro21Arg)	NC_000022.10:g.42322716G>C	(Likely) benign	1 lab	d8829ca426
X:123499617 SH2D1A C>T	X	123499617	123499617	C	T	SH2D1A	c.144C>T	NM_002351.4	NP_002342.1:p.(His48=)	NC_000023.10:g.123499617C>T	(Likely) benign	1 lab	d886c311fc
15:93518272 CHD2 A>C	15	93518272	93518272	A	C	CHD2	c.2577+92A>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93518272A>C	(Likely) benign	1 lab	d88952f981
1:237551399 RYR2 G>A	1	237551399	237551399	G	A	RYR2	c.689G>A	NM_001035.3	NP_001026.2:p.(Gly230Asp)	NC_000001.10:g.237551399G>A	(Likely) pathogenic	1 lab	d88c9ff0ed
6:7583885 DSP T>A	6	7583885	7583885	T	A	DSP	c.6390T>A	NM_004415.2	NP_004406.2:p.(Ala2130=)	NC_000006.11:g.7583885T>A	VUS	1 lab	d88fb37cd4
1:16360424 CLCNKA G>C	1	16360424	16360424	G	C	CLCNKA	c.*271G>C	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16360424G>C	(Likely) benign	1 lab	d89328c42a
16:16256868 ABCC6 G>A	16	16256868	16256868	G	A	ABCC6	c.3488C>T	NM_001171.6	NP_001162.5:p.(Pro1163Leu)	NC_000016.9:g.16256868G>A	VUS	1 lab	d8c6fb552c
19:50826607 KCNC3 C>T	19	50826607	50826607	C	T	KCNC3	c.1603G>A	NM_004977.3	NP_004968.2:p.(Val535Met)	NC_000019.9:g.50826607C>T	VUS	1 lab	d89ab27717
8:17822182 PCM1 A>G	8	17822182	17822182	A	G	PCM1	c.2760A>G	NM_006197.4	NP_006188.4:p.(Glu920=)	NC_000008.10:g.17822182A>G	(Likely) benign	1 lab	d89ad90d80
7:42004713 GLI3 G>A	7	42004713	42004713	G	A	GLI3	c.3958C>T	NM_000168.6	NP_000159.3:p.(Gln1320Ter)	NC_000007.13:g.42004713G>A	(Likely) pathogenic	1 lab	d8c757c839
19:49671528 TRPM4 G>T	19	49671528	49671528	G	T	TRPM4	c.460G>T	NM_017636.4	NP_060106.2:p.(Val154Phe)	NC_000019.9:g.49671528G>T	VUS	1 lab	d89f1ed458
4:187630926 FAT1 C>G	4	187630926	187630926	C	G	FAT1	c.56G>C	NM_005245.4	NP_005236.2:p.(Gly19Ala)	NC_000004.11:g.187630926C>G	(Likely) benign	1 lab	d8a01818e6
19:11687250 ACP5 G>T	19	11687250	11687250	G	T	ACP5	c.543C>A	NM_001111035.3	NP_001104505.1:p.(Ala181=)	NC_000019.9:g.11687250G>T	(Likely) benign	1 lab	d8a07ab46e
6:32816815 TAP1 G>T	6	32816815	32816815	G	T	TAP1	c.1509C>A	NM_000593.5	NP_000584.2:p.(Asn503Lys)	NC_000006.11:g.32816815G>T	(Likely) benign	1 lab	d8a4632d98
3:121516335 IQCB1 TAA>T	3	121516335	121516350	TAA	T	IQCB1	c.767-263_767-262del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121516349_121516350del	(Likely) benign	1 lab	d8a4750d45
17:26115856 NOS2 T>A	17	26115856	26115856	T	A	NOS2	c.297A>T	NM_000625.4	NP_000616.3:p.(Thr99=)	NC_000017.10:g.26115856T>A	(Likely) benign	1 lab	d8aaf26b1c
7:92764901 SAMD9L A>G	7	92764901	92764901	A	G	SAMD9L	c.384T>C	NM_152703.5	NP_689916.2:p.(Asp128=)	NC_000007.13:g.92764901A>G	(Likely) benign	1 lab	d8b4cfb679
6:32810472 PSMB8 C>T	6	32810472	32810472	C	T	PSMB8	c.384G>A	NM_148919.4	NP_683720.2:p.(Glu128=)	NC_000006.11:g.32810472C>T	(Likely) benign	1 lab	d8b5b29112
2:47144431 TTC7A C>T	2	47144431	47144431	C	T	TTC7A	c.82+15C>T	NM_001288953.2	NP_001275882.1:p.?	NC_000002.11:g.47144431C>T	(Likely) benign	1 lab	d8b7938723
2:166221569 SCN2A T>TG	2	166221569	166221579	T	TG	SCN2A	c.3400-74dup	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166221579dup	(Likely) benign	1 lab	d8b827c165
14:67175891 GPHN G>A	14	67175891	67175891	G	A	GPHN	c.143+27988G>A	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67175891G>A	(Likely) benign	1 lab	d8b82de357
X:119077388 NKAP C>G	X	119077388	119077388	C	G	NKAP	c.181G>C	NM_024528.4	NP_078804.2:p.(Gly61Arg)	NC_000023.10:g.119077388C>G	VUS	1 lab	d8cb39240f
7:2580938 BRAT1 CCT>C	7	2580938	2580940	CCT	C	BRAT1	c.1313_1314del	NM_152743.4	NP_689956.2:p.(Gln438ArgfsTer51)	NC_000007.13:g.2580939_2580940del	(Likely) pathogenic	1 lab	d8cdd250c1
7:2987260 CARD11 C>T	7	2987260	2987260	C	T	CARD11	c.169G>A	NM_032415.6	NP_115791.3:p.(Glu57Lys)	NC_000007.13:g.2987260C>T	(Likely) pathogenic	1 lab	d8c2e4a492
4:126239855 FAT4 A>G	4	126239855	126239855	A	G	FAT4				NC_000004.11:g.126239855A>G	(Likely) benign	1 lab	d8c819b906
9:138669264 KCNT1 C>T	9	138669264	138669264	C	T	KCNT1	c.2430C>T	NM_020822.2	NP_065873.2:p.(Ala810=)	NC_000009.11:g.138669264C>T	(Likely) benign	1 lab	d8c9a7d5ed
15:73615791 HCN4 G>T	15	73615791	73615791	G	T	HCN4	c.2643C>A	NM_005477.3	NP_005468.1:p.(Ser881=)	NC_000015.9:g.73615791G>T	(Likely) benign	1 lab	d8ca3cddd4
22:40816548 MRTFA G>T	22	40816548	40816548	G	T	MRTFA	c.1214C>A	NM_020831.6	NP_065882.2:p.(Thr405Asn)	NC_000022.10:g.40816548G>T	(Likely) benign	1 lab	d8cc8efafc
16:56782276 NUP93 G>A	16	56782276	56782276	G	A	NUP93	c.117G>A	NM_014669.5	NP_055484.3:p.(Ala39=)	NC_000016.9:g.56782276G>A	(Likely) benign	1 lab	d8cd4e5bc5
15:93545488 CHD2 T>A	15	93545488	93545488	T	A	CHD2	c.4219T>A	NM_001271.4	NP_001262.3:p.(Ser1407Thr)	NC_000015.9:g.93545488T>A	(Likely) benign	1 lab	d8d2061e0b
4:122791458 BBS7 A>G	4	122791458	122791458	A	G	BBS7	c.11T>C	NM_176824.3	NP_789794.1:p.(Ile4Thr)	NC_000004.11:g.122791458A>G	(Likely) benign	1 lab	d8d40ff275
17:76121981 TMC6 G>C	17	76121981	76121981	G	C	TMC6	c.272-16C>G	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76121981G>C	(Likely) benign	1 lab	d8d514aa92
10:78868165 KCNMA1 CAAA>C	10	78868165	78868180	CAAA	C	KCNMA1	c.1223+71_1223+73del	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78868178_78868180del	(Likely) benign	1 lab	d8da1d0af8
X:18597855 CDKL5 TA>T	X	18597855	18597865	TA	T	CDKL5	c.283-103del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18597865del	(Likely) benign	1 lab	d8e271850c
18:46623866 DYM G>C	18	46623866	46623866	G	C	DYM				NC_000018.9:g.46623866G>C	(Likely) pathogenic	1 lab	d8e5ce6a8e
13:32911746 BRCA2 A>C	13	32911746	32911746	A	C	BRCA2	c.3254A>C	NM_000059.3	NP_000050.2:p.(His1085Pro)	NC_000013.10:g.32911746A>C	(Likely) benign	1 lab	d8ebe7011a
10:64968946 JMJD1C T>A	10	64968946	64968946	T	A	JMJD1C	c.2744A>T	NM_032776.3	NP_116165.1:p.(Asp915Val)	NC_000010.10:g.64968946T>A	VUS	1 lab	d8ce2628f3
X:154156844 F8 A>G	X	154156844	154156844	A	G	F8	c.5219+2T>C	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154156844A>G	(Likely) pathogenic	1 lab	d8f5ca28b2
8:143994806 CYP11B2 A>T	8	143994806	143994806	A	T	CYP11B2	c.1016T>A	NM_000498.3	NP_000489.3:p.(Ile339Asn)	NC_000008.10:g.143994806A>T	(Likely) benign	1 lab	d8f633c584
3:132402275 NPHP3 A>G	3	132402275	132402275	A	G	NPHP3	c.3664T>C	NM_153240.5	NP_694972.3:p.(Leu1222=)	NC_000003.11:g.132402275A>G	(Likely) benign	1 lab	d8fd30e578
19:11547022 PRKCSH GTCCTCCTGTTCACCCTCCCGCCAGGCTGGAGGTGGGAGGGGCCAACATTGGGCCTTAGGGATAGGCATTTACAGCCTTTTGACTCAGTTTCCCGGTAGTGCTCCGCTGGTGGGGATGGGAGGACAGAGGTGGTATTTGGTGGAGAAGGCGCTTACCTGCCCTGGGCTGAGCTTCCTGTACCCCGCAG>ACCA	19	11547022	11547209	GTCCTCCTGTTCACCCTCCCGCCAGGCTGGAGGTGGGAGGGGCCAACATTGGGCCTTAGGGATAGGCATTTACAGCCTTTTGACTCAGTTTCCCGGTAGTGCTCCGCTGGTGGGGATGGGAGGACAGAGGTGGTATTTGGTGGAGAAGGCGCTTACCTGCCCTGGGCTGAGCTTCCTGTACCCCGCAG	ACCA	PRKCSH	c.79_80insGTGAACCA	NM_002743.3	NP_002734.2:p.(Asn27SerfsTer117)	NC_000019.9:g.11547022_11547209delinsACCA	(Likely) pathogenic	1 lab	d8fed4b6cc
8:144810584 SACK1H G>A	8	144810584	144810584	G	A	SACK1H	c.1047C>T	NM_198488.3	NP_940890.3:p.(His349=)	NC_000008.10:g.144810584G>A	(Likely) benign	1 lab	d8ff404e47
1:100340225 AGL G>GAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA	1	100340225	100340226	G	GAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA	AGL	c.959-18_959-17insAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA	NM_000642.3	NP_000633.2:p.?	NC_000001.10:g.100340225_100340226insAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA	VUS	1 lab	d8ff98d097
15:89843610 FANCI A>G	15	89843610	89843610	A	G	FANCI	c.2883A>G	NM_001113378.1	NP_001106849.1:p.(Gln961=)	NC_000015.9:g.89843610A>G	(Likely) benign	1 lab	d8ffc4bd30
9:136313700 ADAMTS13 T>G	9	136313700	136313700	T	G	ADAMTS13	c.2732-20T>G	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136313700T>G	(Likely) benign	1 lab	d9068da874
20:62038551 KCNQ2 T>G	20	62038551	62038551	T	G	KCNQ2	c.2065A>C	NM_172107.4	NP_742105.1:p.(Ile689Leu)	NC_000020.10:g.62038551T>G	(Likely) benign	1 lab	d906e27c94
X:110956540 ALG13 G>A	X	110956540	110956540	G	A	ALG13	c.1005+15G>A	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110956540G>A	(Likely) benign	1 lab	d8d16a0e89
12:110012708 MVK A>G	12	110012708	110012708	A	G	MVK	c.78+3A>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110012708A>G	(Likely) pathogenic	1 lab	d910fdcbce
13:52520533 ATP7B A>G	13	52520533	52520533	A	G	ATP7B	c.2947T>C	NM_000053.4	NP_000044.2:p.(Cys983Arg)	NC_000013.10:g.52520533A>G	(Likely) pathogenic	1 lab	d911025f29
10:54531242 MBL2 G>A	10	54531242	54531242	G	A	MBL2	c.154C>T	NM_000242.2	NP_000233.1:p.(Arg52Cys)	NC_000010.10:g.54531242G>A	(Likely) benign	1 lab	d91184e672
19:14877085 ADGRE2 G>A	19	14877085	14877085	G	A	ADGRE2	c.596C>T	NM_013447.4	NP_038475.2:p.(Pro199Leu)	NC_000019.9:g.14877085G>A	(Likely) benign	1 lab	d912ac0dde
1:10364532 KIF1B C>T	1	10364532	10364532	C	T	KIF1B	c.3289C>T	NM_183416.4	NP_904325.2:p.(Arg1097Cys)	NC_000001.10:g.10364532C>T	(Likely) benign	1 lab	d929a57403
14:65252443 SPTB C>T	14	65252443	65252443	C	T	SPTB	c.3764+24G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252443C>T	(Likely) benign	1 lab	d92f2213bd
2:44531414 SLC3A1 C>T	2	44531414	44531414	C	T	SLC3A1	c.1269C>T	NM_000341.4	NP_000332.2:p.(Ser423=)	NC_000002.11:g.44531414C>T	(Likely) benign	1 lab	d92fadb971
8:41791085 KAT6A A>C	8	41791085	41791085	A	C	KAT6A	c.4653T>G	NM_006766.5	NP_006757.2:p.(Ser1551Arg)	NC_000008.10:g.41791085A>C	(Likely) pathogenic	1 lab	d93039e068
4:77089557 SCARB2 C>G	4	77089557	77089557	C	G	SCARB2	c.1186G>C	NM_005506.4	NP_005497.1:p.(Val396Leu)	NC_000004.11:g.77089557C>G	(Likely) benign	1 lab	d930462884
9:138667320 KCNT1 T>C	9	138667320	138667320	T	C	KCNT1	c.2349+59T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138667320T>C	(Likely) benign	1 lab	d93187d183
9:95473719 BICD2 G>A	9	95473719	95473719	G	A	BICD2	c.*3717C>T	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95473719G>A	(Likely) benign	1 lab	d931f0a07a
14:23897064 MYH7 A>G	14	23897064	23897064	A	G	MYH7	c.1618T>C	NM_000257.2	NP_000248.2:p.(Phe540Leu)	NC_000014.8:g.23897064A>G	VUS	1 lab	d932730957
1:206566034 MISSING G>T	1	206566034	206566034	G	T	MISSING				NC_000001.10:g.206566034G>T	(Likely) benign	1 lab	d935a83e0b
10:17147586 CUBN T>C	10	17147586	17147586	T	C	CUBN	c.1112-12A>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17147586T>C	(Likely) benign	1 lab	d93786e58e
16:11002000 CIITA G>A	16	11002000	11002000	G	A	CIITA	c.2651G>A	NM_000246.3	NP_000237.2:p.(Arg884His)	NC_000016.9:g.11002000G>A	(Likely) benign	1 lab	d937896189
1:237711868 RYR2 G>A	1	237711868	237711868	G	A	RYR2	c.3044G>A	NM_001035.3	NP_001026.2:p.(Gly1015Asp)	NC_000001.10:g.237711868G>A	VUS	1 lab	d9392133d6
4:2835414 SH3BP2 T>TC	4	2835414	2835419	T	TC	SH3BP2	c.1633-5dup	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2835419dup	(Likely) benign	1 lab	d93b7960ea
6:76566937 MYO6 C>T	6	76566937	76566937	C	T	MYO6	c.1347C>T	NM_004999.4	NP_004990.3:p.(Ser449=)	NC_000006.11:g.76566937C>T	(Likely) benign	1 lab	d93e3bf603
2:179419738 TTN G>A	2	179419738	179419738	G	A	TTN	c.88448C>T	NM_001267550.1	NP_001254479.1:p.(Thr29483Ile)	NC_000002.11:g.179419738G>A	VUS	1 lab	d93ec5982b
11:36596370 RAG1 C>T	11	36596370	36596370	C	T	RAG1	c.1516C>T	NM_000448.2	NP_000439.1:p.(Leu506Phe)	NC_000011.9:g.36596370C>T	(Likely) pathogenic	1 lab	d93f23ecdc
1:20960010 PINK1 CGGCTGCGGG>C	1	20960010	20960022	CGGCTGCGGG	C	PINK1	c.-28_-20del	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20960014_20960022del	(Likely) benign	1 lab	d8d5d42c80
16:1252517 CACNA1H G>T	16	1252517	1252517	G	T	CACNA1H	c.2002+65G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1252517G>T	(Likely) benign	1 lab	d941555db1
1:158648224 SPTA1 A>G	1	158648224	158648224	A	G	SPTA1	c.779T>C	NM_003126.3	NP_003117.2:p.(Leu260Pro)	NC_000001.10:g.158648224A>G	(Likely) pathogenic	1 lab	d9443dd396
13:39452554 FREM2 A>C	13	39452554	39452554	A	C	FREM2	c.8859+96A>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452554A>C	(Likely) benign	1 lab	d94b3919ce
4:15504010 CC2D2A CT>C	4	15504010	15504020	CT	C	CC2D2A	c.248-32del	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15504020del	(Likely) benign	1 lab	d94c0becbf
6:39880617 MOCS1 C>T	6	39880617	39880617	C	T	MOCS1	c.870+19G>A	NM_005943.5	NP_005934.2:p.?	NC_000006.11:g.39880617C>T	(Likely) benign	1 lab	d94daef541
17:5463194 NLRP1 A>C	17	5463194	5463194	A	C	NLRP1	c.822T>G	NM_033004.4	NP_127497.1:p.(Phe274Leu)	NC_000017.10:g.5463194A>C	(Likely) benign	1 lab	d95312c10b
4:187519288 FAT1 G>T	4	187519288	187519288	G	T	FAT1	c.12104-9C>A	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187519288G>T	(Likely) benign	1 lab	d955ba7b6f
17:78086892 GAA C>T	17	78086892	78086892	C	T	GAA	c.2040+66C>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78086892C>T	(Likely) benign	1 lab	d9581c625f
1:154570976 ADAR T>C	1	154570976	154570976	T	C	ADAR	c.802A>G	NM_001193495.2	NP_001180424.1:p.(Met268Val)	NC_000001.10:g.154570976T>C	VUS	1 lab	d8d6cb7396
2:149226348 MBD5 T>C	2	149226348	149226348	T	C	MBD5	c.836T>C	NM_018328.4	NP_060798.2:p.(Met279Thr)	NC_000002.11:g.149226348T>C	(Likely) benign	1 lab	d964dfd21e
1:247582463 NLRP3 TATA>T	1	247582463	247582466	TATA	T	NLRP3	c.277+85_277+87del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247582464_247582466del	(Likely) benign	1 lab	d970d257ed
16:2158554 PKD1 G>A	16	2158554	2158554	G	A	PKD1	c.6614C>T	NM_001009944.2	NP_001009944.2:p.(Ala2205Val)	NC_000016.9:g.2158554G>A	(Likely) benign	1 lab	d970d9cfaf
X:31366742 DMD C>T	X	31366742	31366742	C	T	DMD	c.9094G>A	NM_004006.3	NP_003997.2:p.(Glu3032Lys)	NC_000023.10:g.31366742C>T	VUS	1 lab	d8d73bcea7
5:131007607 FNIP1 T>C	5	131007607	131007607	T	C	FNIP1	c.2530A>G	NM_133372.3	NP_588613.3:p.(Ile844Val)	NC_000005.9:g.131007607T>C	(Likely) benign	1 lab	d974011273
X:150572228 VMA21 T>G	X	150572228	150572228	T	G	VMA21	c.163+16T>G	NM_001017980.3	NP_001017980.1:p.?	NC_000023.10:g.150572228T>G	(Likely) benign	1 lab	d978c2898f
11:47362431 MYBPC3 A>G	11	47362431	47362431	A	G	MYBPC3	c.1927+123T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362431A>G	(Likely) benign	1 lab	d97b22bde6
17:41226411 BRCA1 G>A	17	41226411	41226411	G	A	BRCA1	c.4612C>T	NM_007294.3	NP_009225.1:p.(Gln1538Ter)	NC_000017.10:g.41226411G>A	(Likely) pathogenic	1 lab	d97bd3cab5
1:247597571 NLRP3 C>A	1	247597571	247597571	C	A	NLRP3	c.2488C>A	NM_001243133.2	NP_001230062.1:p.(Leu830Ile)	NC_000001.10:g.247597571C>A	(Likely) benign	1 lab	d97d2f8d9f
1:120458220 NOTCH2 A>G	1	120458220	120458220	A	G	NOTCH2	c.7125T>C	NM_024408.4	NP_077719.2:p.(Pro2375=)	NC_000001.10:g.120458220A>G	(Likely) benign	1 lab	d9807c39c2
1:155260096 PKLR G>A	1	155260096	155260096	G	A	PKLR	c.*267C>T	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155260096G>A	(Likely) benign	1 lab	d9e949ab00
12:33003700 PKP2 C>T	12	33003700	33003700	C	T	PKP2	c.1378G>A	NM_004572.3	NP_004563.2:p.(Asp460Asn)	NC_000012.11:g.33003700C>T	(Likely) pathogenic	1 lab	d98771c2cb
X:107840184 COL4A5 C>T	X	107840184	107840184	C	T	COL4A5	c.1517-44C>T	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107840184C>T	(Likely) benign	1 lab	d9895c6858
6:7580981 DSP A>G	6	7580981	7580981	A	G	DSP	c.4558A>G	NM_004415.2	NP_004406.2:p.(Ser1520Gly)	NC_000006.11:g.7580981A>G	VUS	1 lab	d98db79963
20:8696907 PLCB1 T>G	20	8696907	8696907	T	G	PLCB1	c.1251-4T>G	NM_182734.3	NP_877398.1:p.?	NC_000020.10:g.8696907T>G	(Likely) benign	1 lab	d993f77b51
X:132838307 GPC3 A>C	X	132838307	132838307	A	C	GPC3	c.1033-6T>G	NM_001164617.2	NP_001158089.1:p.?	NC_000023.10:g.132838307A>C	(Likely) benign	1 lab	d9964e0255
4:2831570 SH3BP2 G>A	4	2831570	2831570	G	A	SH3BP2	c.1021G>A	NM_001145855.2	NP_001139327.1:p.(Gly341Arg)	NC_000004.11:g.2831570G>A	(Likely) benign	1 lab	d998364efb
7:42187818 GLI3 C>T	7	42187818	42187818	C	T	GLI3	c.367+7G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42187818C>T	(Likely) benign	1 lab	d9983d9afc
2:179463985 TTN C>T	2	179463985	179463985	C	T	TTN	c.56535G>A	NM_001267550.1	NP_001254479.1:p.(Thr18845=)	NC_000002.11:g.179463985C>T	(Likely) benign	1 lab	d9990f2a55
11:10800284 CTR9 T>C	11	10800284	10800284	T	C	CTR9	c.3154T>C	NM_014633.5	NP_055448.1:p.(Cys1052Arg)	NC_000011.9:g.10800284T>C	(Likely) benign	1 lab	d99bd7e207
5:94830425 SKIC3 C>G	5	94830425	94830425	C	G	SKIC3	c.3763G>C	NM_014639.3	NP_055454.1:p.(Ala1255Pro)	NC_000005.9:g.94830425C>G	(Likely) benign	1 lab	d99d129fb4
17:37949134 IKZF3 T>C	17	37949134	37949134	T	C	IKZF3	c.216A>G	NM_012481.5	NP_036613.2:p.(Leu72=)	NC_000017.10:g.37949134T>C	(Likely) benign	1 lab	d99d7fdc8a
10:43613907 RET T>A	10	43613907	43613907	T	A	RET	c.2371T>A	NM_020975.6	NP_066124.1:p.(Tyr791Asn)	NC_000010.10:g.43613907T>A	VUS	1 lab	d8dd172e72
10:17157533 CUBN C>T	10	17157533	17157533	C	T	CUBN	c.657G>A	NM_001081.3	NP_001072.2:p.(Gly219=)	NC_000010.10:g.17157533C>T	(Likely) benign	1 lab	d9a0e09cf8
X:21627588 CNKSR2 C>T	X	21627588	21627588	C	T	CNKSR2	c.2545C>T	NM_014927.5	NP_055742.2:p.(Arg849Ter)	NC_000023.10:g.21627588C>T	(Likely) pathogenic	1 lab	d9a3bae44f
16:10626864 EMP2 G>A	16	10626864	10626864	G	A	EMP2	c.402C>T	NM_001424.6	NP_001415.1:p.(Thr134=)	NC_000016.9:g.10626864G>A	(Likely) benign	1 lab	d9a3e62d45
22:39064147 CBY1 G>C	22	39064147	39064147	G	C	CBY1	c.207+10G>C	NM_001002880.1	NP_001002880.2:p.?	NC_000022.10:g.39064147G>C	(Likely) benign	1 lab	d9a479b524
1:57397488 C8B C>T	1	57397488	57397488	C	T	C8B	c.1616G>A	NM_000066.2	NP_000057.1:p.(Arg539Gln)	NC_000001.10:g.57397488C>T	(Likely) benign	1 lab	d9a4cc4058
11:58979848 MPEG1 G>A	11	58979848	58979848	G	A	MPEG1	c.491C>T	NM_001039396.2	NP_001034485.1:p.(Thr164Ile)	NC_000011.9:g.58979848G>A	(Likely) benign	1 lab	d9a77fa4e5
11:124763789 ROBO4 G>A	11	124763789	124763789	G	A	ROBO4	c.1471C>T	NM_019055.6	NP_061928.4:p.(Arg491Cys)	NC_000011.9:g.124763789G>A	(Likely) benign	1 lab	d9b0c38a7a
5:90059080 ADGRV1 G>GT	5	90059080	90059091	G	GT	ADGRV1	c.12121-31dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059091dup	(Likely) benign	1 lab	d9b32cc507
11:64573798 MEN1 AG>A	11	64573798	64573799	AG	A	MEN1	c.954del	NM_001370259.2	NP_001357188.2:p.(Tyr319ThrfsTer49)	NC_000011.9:g.64573799del	(Likely) pathogenic	1 lab	d9b583c6bb
15:42697231 CAPN3 C>G	15	42697231	42697231	C	G	CAPN3	c.1783-893C>G	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42697231C>G	(Likely) benign	1 lab	d9b954edd0
16:27772725 KATNIP C>G	16	27772725	27772725	C	G	KATNIP	c.3632-9C>G	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27772725C>G	(Likely) benign	1 lab	d9ba243f02
21:45708289 AIRE G>A	21	45708289	45708289	G	A	AIRE				NC_000021.8:g.45708289G>A	(Likely) benign	1 lab	d9babc755c
19:55450655 NLRP7 T>C	19	55450655	55450655	T	C	NLRP7	c.1532A>G	NM_001127255.1	NP_001120727.1:p.(Lys511Arg)	NC_000019.9:g.55450655T>C	(Likely) benign	1 lab	d9bd1aa2d6
12:6442958 TNFRSF1A G>T	12	6442958	6442958	G	T	TNFRSF1A	c.267C>A	NM_001065.3	NP_001056.1:p.(Phe89Leu)	NC_000012.11:g.6442958G>T	(Likely) pathogenic	1 lab	d9c49f6810
16:1268439 CACNA1H G>T	16	1268439	1268439	G	T	CACNA1H	c.5675G>T	NM_021098.3	NP_066921.2:p.(Arg1892Leu)	NC_000016.9:g.1268439G>T	(Likely) benign	1 lab	d9c7c4f655
X:154225344 F8 C>T	X	154225344	154225344	C	T	F8	c.292G>A	NM_000132.3	NP_000123.1:p.(Glu98Lys)	NC_000023.10:g.154225344C>T	(Likely) pathogenic	1 lab	d9c9aceec4
5:90050903 ADGRV1 T>C	5	90050903	90050903	T	C	ADGRV1	c.11481T>C	NM_032119.4	NP_115495.3:p.(Asp3827=)	NC_000005.9:g.90050903T>C	(Likely) benign	1 lab	d9cb85a6d6
3:25648767 TOP2B T>A	3	25648767	25648767	T	A	TOP2B	c.4178A>T	NM_001068.3	NP_001059.2:p.(Lys1393Ile)	NC_000003.11:g.25648767T>A	VUS	1 lab	d8dd2660a2
6:161162325 PLG C>T	6	161162325	161162325	C	T	PLG	c.2019-18C>T	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161162325C>T	(Likely) benign	1 lab	d9d1b9f935
12:110019259 MVK G>T	12	110019259	110019259	G	T	MVK	c.431G>T	NM_000431.2	NP_000422.1:p.(Gly144Val)	NC_000012.11:g.110019259G>T	VUS	1 lab	d9d4283f46
9:135211903 SETX C>G	9	135211903	135211903	C	G	SETX	c.499-1G>C	NM_001351527.1	NP_001338456.1:p.?	NC_000009.11:g.135211903C>G	(Likely) pathogenic	1 lab	d9d514efc5
13:39422744 FREM2 A>G	13	39422744	39422744	A	G	FREM2	c.6316A>G	NM_207361.6	NP_997244.4:p.(Met2106Val)	NC_000013.10:g.39422744A>G	(Likely) benign	1 lab	d9d71440d4
12:66786644 GRIP1 G>A	12	66786644	66786644	G	A	GRIP1	c.1974-48C>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66786644G>A	(Likely) benign	1 lab	d9da030393
15:93467668 CHD2 T>G	15	93467668	93467668	T	G	CHD2	c.180T>G	NM_001271.4	NP_001262.3:p.(Ser60=)	NC_000015.9:g.93467668T>G	(Likely) benign	1 lab	d9da0a0a45
15:80465431 FAH C>T	15	80465431	80465431	C	T	FAH	c.782C>T	NM_000137.4	NP_000128.1:p.(Pro261Leu)	NC_000015.9:g.80465431C>T	VUS	1 lab	d9ddbff42f
X:100658896 GLA A>T	X	100658896	100658896	A	T	GLA	c.272T>A	NM_000169.2	NP_000160.1:p.(Ile91Asn)	NC_000023.10:g.100658896A>T	(Likely) pathogenic	1 lab	d9deeacdd8
12:6441166 TNFRSF1A CAAA>C	12	6441166	6441190	CAAA	C	TNFRSF1A	c.551+1066_551+1068del	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6441188_6441190del	(Likely) benign	1 lab	d9df581dae
11:5718509 TRIM22 T>A	11	5718509	5718509	T	A	TRIM22	c.455T>A	NM_006074.5	NP_006065.2:p.(Ile152Lys)	NC_000011.9:g.5718509T>A	(Likely) benign	1 lab	d9e07cd891
18:28648017 DSC2 T>G	18	28648017	28648017	T	G	DSC2				NC_000018.9:g.28648017T>G	VUS	1 lab	d9e2587586
20:60885280 LAMA5 T>C	20	60885280	60885280	T	C	LAMA5	c.10688A>G	NM_005560.4	NP_005551.3:p.(Gln3563Arg)	NC_000020.10:g.60885280T>C	(Likely) benign	1 lab	d9e6098644
11:22281494 ANO5 G>GA	11	22281494	22281508	G	GA	ANO5	c.1630+221dup	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22281508dup	(Likely) benign	1 lab	d9e9901bb7
12:52312835 ACVRL1 T>C	12	52312835	52312835	T	C	ACVRL1	c.1313T>C	NM_000020.2	NP_000011.2:p.(Met438Thr)	NC_000012.11:g.52312835T>C	(Likely) pathogenic	1 lab	d9ead202d0
16:81942208 PLCG2 G>C	16	81942208	81942208	G	C	PLCG2	c.1733+12G>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81942208G>C	(Likely) benign	1 lab	d9efe70974
1:207940486 CD46 A>G	1	207940486	207940486	A	G	CD46	c.802A>G	NM_002389.4	NP_002380.3:p.(Ile268Val)	NC_000001.10:g.207940486A>G	(Likely) benign	1 lab	d9f3ccb60f
4:144445566 SMARCA5 A>G	4	144445566	144445566	A	G	SMARCA5	c.466A>G	NM_003601.4	NP_003592.3:p.(Thr156Ala)	NC_000004.11:g.144445566A>G	VUS	1 lab	d8df7fb01d
22:21119936 PI4KA G>A	22	21119936	21119936	G	A	PI4KA	c.2374C>T	NM_058004.4	NP_477352.3:p.(Gln792Ter)	NC_000022.10:g.21119936G>A	(Likely) pathogenic	1 lab	d9f8486c46
2:166848852 SCN1A G>C	2	166848852	166848852	G	C	SCN1A	c.4933C>G	NM_001165963.3	NP_001159435.1:p.(Arg1645Gly)	NC_000002.11:g.166848852G>C	(Likely) pathogenic	1 lab	d9f95d2418
5:52365930 ITGA2 T>TTA	5	52365930	52365933	T	TTA	ITGA2	c.2084-7_2084-6dup	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52365932_52365933dup	(Likely) benign	1 lab	d9f962fd8c
6:33636902 ITPR3 G>GCCCAC	6	33636902	33636907	G	GCCCAC	ITPR3	c.2159_2163dup	NM_002224.3	NP_002215.2:p.(Asp722ProfsTer14)	NC_000006.11:g.33636903_33636907dup	(Likely) pathogenic	1 lab	d9fbe8fbb0
1:155161800 MUC1 G>A	1	155161800	155161800	G	A	MUC1	c.360C>T	NM_001204286.1	NP_001191215.1:p.(Thr120=)	NC_000001.10:g.155161800G>A	(Likely) benign	1 lab	da030ca3e8
16:1263949 CACNA1H G>A	16	1263949	1263949	G	A	CACNA1H	c.4929+18G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1263949G>A	(Likely) benign	1 lab	da03daea04
1:227170644 COQ8A A>G	1	227170644	227170644	A	G	COQ8A	c.989A>G	NM_020247.5	NP_064632.2:p.(Tyr330Cys)	NC_000001.10:g.227170644A>G	(Likely) benign	1 lab	da040fc855
2:175431850 WIPF1 A>G	2	175431850	175431850	A	G	WIPF1	c.1404T>C	NM_001077269.1	NP_001070737.1:p.(Tyr468=)	NC_000002.11:g.175431850A>G	(Likely) benign	1 lab	da0656900d
11:4112857 STIM1 A>G	11	4112857	4112857	A	G	STIM1	c.2205A>G	NM_001277961.1	NP_001264890.1:p.(Pro735=)	NC_000011.9:g.4112857A>G	(Likely) benign	1 lab	da070313ba
6:16328154 ATXN1 T>G	6	16328154	16328154	T	G	ATXN1	c.388A>C	NM_000332.3	NP_000323.2:p.(Ile130Leu)	NC_000006.11:g.16328154T>G	(Likely) benign	1 lab	da08b617af
15:45884394 BLOC1S6 A>T	15	45884394	45884394	A	T	BLOC1S6	c.144A>T	NM_012388.3	NP_036520.1:p.(Ala48=)	NC_000015.9:g.45884394A>T	(Likely) benign	1 lab	da0b70155f
14:74426177 COQ6 A>G	14	74426177	74426177	A	G	COQ6	c.843A>G	NM_182476.3	NP_872282.1:p.(Leu281=)	NC_000014.8:g.74426177A>G	(Likely) benign	1 lab	da0d14deb2
14:58965557 KIAA0586 G>A	14	58965557	58965557	G	A	KIAA0586	c.4206G>A	NM_001244189.2	NP_001231118.1:p.(Ala1402=)	NC_000014.8:g.58965557G>A	(Likely) benign	1 lab	da109095da
14:102505262 DYNC1H1 AC>A	14	102505262	102505263	AC	A	DYNC1H1	c.11207-75del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102505263del	(Likely) benign	1 lab	da1473983b
11:62407167 GANAB G>C	11	62407167	62407167	G	C	GANAB	c.75C>G	NM_198335.4	NP_938149.2:p.(Val25=)	NC_000011.9:g.62407167G>C	(Likely) benign	1 lab	da165dc97a
14:20940628 PNP G>A	14	20940628	20940628	G	A	PNP	c.173G>A	NM_000270.3	NP_000261.2:p.(Arg58Gln)	NC_000014.8:g.20940628G>A	(Likely) benign	1 lab	da1b15bced
1:155160353 MUC1 G>A	1	155160353	155160353	G	A	MUC1	c.972-19C>T	NM_001204286.1	NP_001191215.1:p.?	NC_000001.10:g.155160353G>A	(Likely) benign	1 lab	da20b32bf4
5:155756608 SGCD C>T	5	155756608	155756608	C	T	SGCD	c.3+19C>T	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.155756608C>T	(Likely) benign	1 lab	da25ae25ec
1:22154845 HSPG2 A>G	1	22154845	22154845	A	G	HSPG2	c.12312T>C	NM_005529.7	NP_005520.4:p.(Asp4104=)	NC_000001.10:g.22154845A>G	(Likely) benign	1 lab	d8e4a06a49
11:32413513 WT1 C>T	11	32413513	32413513	C	T	WT1				NC_000011.9:g.32413513C>T	(Likely) pathogenic	1 lab	da25eba4c7
1:247588056 NLRP3 GACC>G	1	247588056	247588065	GACC	G	NLRP3	c.1312_1314del	NM_001243133.2	NP_001230062.1:p.(Thr438del)	NC_000001.10:g.247588063_247588065del	VUS	1 lab	da29d48b41
5:90261239 ADGRV1 T>C	5	90261239	90261239	T	C	ADGRV1	c.17864T>C	NM_032119.4	NP_115495.3:p.(Phe5955Ser)	NC_000005.9:g.90261239T>C	(Likely) benign	1 lab	da2d00847f
8:27319206 CHRNA2 G>A	8	27319206	27319206	G	A	CHRNA2	c.1530C>T	NM_000742.4	NP_000733.2:p.(Ile510=)	NC_000008.10:g.27319206G>A	(Likely) benign	1 lab	da2d7564f5
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTTTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	da2f79ec67
1:247599375 NLRP3 G>A	1	247599375	247599375	G	A	NLRP3	c.2596G>A	NM_001243133.2	NP_001230062.1:p.(Gly866Arg)	NC_000001.10:g.247599375G>A	(Likely) benign	1 lab	da32e1b358
8:17868775 PCM1 G>C	8	17868775	17868775	G	C	PCM1	c.5250G>C	NM_006197.4	NP_006188.4:p.(Gln1750His)	NC_000008.10:g.17868775G>C	(Likely) benign	1 lab	da3579d4cd
1:245005290 COX20 C>T	1	245005290	245005290	C	T	COX20	c.87C>T	NM_198076.6	NP_932342.1:p.(Cys29=)	NC_000001.10:g.245005290C>T	(Likely) benign	1 lab	d8e646a093
8:68028252 CSPP1 C>G	8	68028252	68028252	C	G	CSPP1	c.494C>G	NM_001291339.1	NP_001278268.1:p.(Ser165Cys)	NC_000008.10:g.68028252C>G	(Likely) benign	1 lab	da37436435
16:3304404 MEFV C>T	16	3304404	3304404	C	T	MEFV	c.664G>A	NM_000243.2	NP_000234.1:p.(Gly222Arg)	NC_000016.9:g.3304404C>T	VUS	1 lab	da3aa40534
10:97987266 BLNK G>A	10	97987266	97987266	G	A	BLNK	c.261C>T	NM_013314.3	NP_037446.1:p.(Pro87=)	NC_000010.10:g.97987266G>A	(Likely) benign	1 lab	da3bd53eca
12:8667856 CLEC4D T>G	12	8667856	8667856	T	G	CLEC4D	c.53T>G	NM_080387.5	NP_525126.2:p.(Leu18Arg)	NC_000012.11:g.8667856T>G	(Likely) benign	1 lab	da3f272ee4
6:33639854 ITPR3 C>G	6	33639854	33639854	C	G	ITPR3	c.2777C>G	NM_002224.3	NP_002215.2:p.(Thr926Ser)	NC_000006.11:g.33639854C>G	VUS	1 lab	da441123b3
5:13735333 DNAH5 C>A	5	13735333	13735333	C	A	DNAH5	c.11668G>T	NM_001369.2	NP_001360.1:p.(Glu3890Ter)	NC_000005.9:g.13735333C>A	(Likely) pathogenic	1 lab	da4534bfca
2:227924817 COL4A4 G>GAAAAA	2	227924817	227924841	G	GAAAAA	COL4A4	c.2164+30_2164+34dup	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924837_227924841dup	(Likely) benign	1 lab	da48ccf5f0
17:61315272 TANC2 G>A	17	61315272	61315272	G	A	TANC2	c.645G>A	NM_025185.4	NP_079461.2:p.(Gln215=)	NC_000017.10:g.61315272G>A	(Likely) benign	1 lab	d8e69acd98
12:6439237 TNFRSF1A A>G	12	6439237	6439237	A	G	TNFRSF1A	c.769-5T>C	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6439237A>G	(Likely) benign	1 lab	da4ac28ea8
17:10301859 MYH8 C>A	17	10301859	10301859	C	A	MYH8	c.4080G>T	NM_002472.3	NP_002463.2:p.(Leu1360=)	NC_000017.10:g.10301859C>A	(Likely) benign	1 lab	da5223a9db
X:100608298 BTK A>C	X	100608298	100608298	A	C	BTK	c.1894T>G	NM_001287344.1	NP_001274273.1:p.(Tyr632Asp)	NC_000023.10:g.100608298A>C	(Likely) pathogenic	1 lab	da53022dc6
6:35287395 DEF6 G>A	6	35287395	35287395	G	A	DEF6	c.1310G>A	NM_022047.4	NP_071330.3:p.(Arg437Gln)	NC_000006.11:g.35287395G>A	(Likely) benign	1 lab	da570a5913
2:166859000 SCN1A A>T	2	166859000	166859000	A	T	SCN1A	c.4266T>A	NM_001165963.3	NP_001159435.1:p.(Tyr1422Ter)	NC_000002.11:g.166859000A>T	(Likely) pathogenic	1 lab	da5b811eb1
1:43919069 SZT2 A>C	1	43919069	43919069	A	C	SZT2	c.*2918A>C	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43919069A>C	VUS	1 lab	d8e6e12a34
7:94055768 COL1A2 C>T	7	94055768	94055768	C	T	COL1A2	c.3031C>T	NM_000089.3	NP_000080.2:p.(Pro1011Ser)	NC_000007.13:g.94055768C>T	VUS	1 lab	da5d2f2441
1:43396474 SLC2A1 C>T	1	43396474	43396474	C	T	SLC2A1	c.339G>A	NM_006516.4	NP_006507.2:p.(Ser113=)	NC_000001.10:g.43396474C>T	(Likely) benign	1 lab	d8ea41f61d
2:189859830 COL3A1 A>G	2	189859830	189859830	A	G	COL3A1	c.1509+5A>G	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189859830A>G	(Likely) benign	1 lab	da6478ff8f
2:166810161 TTC21B G>GCCCGCTCA	2	166810161	166810195	G	GCCCGCTCA	TTC21B	c.21+26_21+33dup	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166810188_166810195dup	(Likely) benign	1 lab	da65fca1c4
16:15815278 MYH11 C>T	16	15815278	15815278	C	T	MYH11	c.4599+1G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15815278C>T	(Likely) pathogenic	1 lab	da6db1d155
X:47434693 SYN1 C>T	X	47434693	47434693	C	T	SYN1	c.1159-20G>A	NM_133499.2	NP_598006.1:p.?	NC_000023.10:g.47434693C>T	(Likely) benign	1 lab	da71aa370a
1:158596438 SPTA1 G>T	1	158596438	158596438	G	T	SPTA1	c.5833+191C>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158596438G>T	(Likely) benign	1 lab	da774f0900
9:101235596 GABBR2 A>G	9	101235596	101235596	A	G	GABBR2	c.831T>C	NM_005458.8	NP_005449.5:p.(Tyr277=)	NC_000009.11:g.101235596A>G	(Likely) benign	1 lab	da77f80c2d
19:55450435 NLRP7 C>T	19	55450435	55450435	C	T	NLRP7	c.1752G>A	NM_001127255.1	NP_001120727.1:p.(Ala584=)	NC_000019.9:g.55450435C>T	(Likely) benign	1 lab	da7999aed8
2:179444319 TTN G>C	2	179444319	179444319	G	C	TTN	c.40785C>G	NM_133432.3	NP_597676.3:p.(Ser13595Arg)	NC_000002.11:g.179444319G>C	VUS	1 lab	da7df0ae93
11:14316127 RRAS2 TTA>T	11	14316127	14316129	TTA	T	RRAS2	c.300-4_300-3del	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14316128_14316129del	(Likely) benign	1 lab	da7f81b2cc
12:110019208 MVK C>T	12	110019208	110019208	C	T	MVK	c.380C>T	NM_000431.2	NP_000422.1:p.(Pro127Leu)	NC_000012.11:g.110019208C>T	VUS	1 lab	da80a5519d
5:39108384 FYB1 T>A	5	39108384	39108384	T	A	FYB1	c.2436-20A>T	NM_001465.6	NP_001456.3:p.?	NC_000005.9:g.39108384T>A	(Likely) benign	1 lab	da827abf61
6:7580622 DSP G>A	6	7580622	7580622	G	A	DSP	c.4199G>A	NM_004415.2	NP_004406.2:p.(Arg1400Gln)	NC_000006.11:g.7580622G>A	VUS	1 lab	da8588adf6
1:229567578 ACTA1 C>T	1	229567578	229567578	C	T	ACTA1	c.880G>A	NM_001100.3	NP_001091.1:p.(Asp294Asn)	NC_000001.10:g.229567578C>T	VUS	1 lab	da8776ff98
15:73617802 HCN4 G>C	15	73617802	73617802	G	C	HCN4	c.1591-17C>G	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617802G>C	VUS	1 lab	da89444b2c
2:166221569 SCN2A TGG>T	2	166221569	166221579	TGG	T	SCN2A	c.3400-75_3400-74del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166221578_166221579del	(Likely) benign	1 lab	da913e8f41
1:29345027 EPB41 T>G	1	29345027	29345027	T	G	EPB41	c.497+73T>G	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29345027T>G	(Likely) benign	1 lab	da920f295d
6:51923197 PKHD1 T>A	6	51923197	51923197	T	A	PKHD1	c.1436A>T	NM_138694.4	NP_619639.3:p.(Asn479Ile)	NC_000006.11:g.51923197T>A	(Likely) pathogenic	1 lab	da98a2de16
2:216273036 FN1 T>C	2	216273036	216273036	T	C	FN1	c.2413A>G	NM_212482.2	NP_997647.1:p.(Thr805Ala)	NC_000002.11:g.216273036T>C	(Likely) benign	1 lab	da98f5586c
12:6442959 TNFRSF1A A>G	12	6442959	6442959	A	G	TNFRSF1A	c.266T>C	NM_001065.3	NP_001056.1:p.(Phe89Ser)	NC_000012.11:g.6442959A>G	(Likely) pathogenic	1 lab	da9af0e4c2
19:38985493 RYR1 CT>C	19	38985493	38985508	CT	C	RYR1	c.6548+243del	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38985508del	(Likely) benign	1 lab	da9b90995b
1:10042775 NMNAT1 A>G	1	10042775	10042775	A	G	NMNAT1	c.*16A>G	NM_001297778.1	NP_001284707.1:p.?	NC_000001.10:g.10042775A>G	(Likely) benign	1 lab	2668ebc691
15:93487683 CHD2 A>G	15	93487683	93487683	A	G	CHD2	c.1091A>G	NM_001271.4	NP_001262.3:p.(Asn364Ser)	NC_000015.9:g.93487683A>G	(Likely) benign	1 lab	da9d2d159a
1:179526191 NPHS2 C>G	1	179526191	179526191	C	G	NPHS2	c.709G>C	NM_014625.3	NP_055440.1:p.(Glu237Gln)	NC_000001.10:g.179526191C>G	(Likely) benign	1 lab	daa484eda9
21:34633029 IFNAR2 C>G	21	34633029	34633029	C	G	IFNAR2	c.837C>G	NM_207585.2	NP_997468.1:p.(Val279=)	NC_000021.8:g.34633029C>G	(Likely) benign	1 lab	daaa5717dc
2:179471989 TTN C>T	2	179471989	179471989	C	T	TTN	c.53340G>A	NM_001267550.1	NP_001254479.1:p.(Met17780Ile)	NC_000002.11:g.179471989C>T	VUS	1 lab	dab131f172
8:28574533 EXTL3 G>A	8	28574533	28574533	G	A	EXTL3	c.957G>A	NM_001440.4	NP_001431.1:p.(Leu319=)	NC_000008.10:g.28574533G>A	(Likely) benign	1 lab	dab4a3610a
9:120474673 TLR4 A>G	9	120474673	120474673	A	G	TLR4	c.147A>G	NM_003266.4	NP_003257.1:p.(Glu49=)	NC_000009.11:g.120474673A>G	(Likely) benign	1 lab	dab57aa739
X:153229561 HCFC1 G>C	X	153229561	153229561	G	C	HCFC1	c.503+14C>G	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153229561G>C	(Likely) benign	1 lab	dab8d3a977
7:47854961 PKD1L1 T>C	7	47854961	47854961	T	C	PKD1L1	c.7060A>G	NM_138295.5	NP_612152.1:p.(Thr2354Ala)	NC_000007.13:g.47854961T>C	VUS	1 lab	daba88b66a
18:21120006 NPC1 C>T	18	21120006	21120006	C	T	NPC1	c.2605-41G>A	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21120006C>T	(Likely) benign	1 lab	dacdf45d96
2:15615922 NBAS T>TA	2	15615922	15615925	T	TA	NBAS	c.1229dup	NM_015909.4	NP_056993.2:p.(Leu410PhefsTer18)	NC_000002.11:g.15615925dup	(Likely) pathogenic	1 lab	dacfc964e7
10:103531238 FGF8 C>G	10	103531238	103531238	C	G	FGF8	c.426G>C	NM_033163.4	NP_149353.1:p.(Lys142Asn)	NC_000010.10:g.103531238C>G	VUS	1 lab	dad29627f0
7:70229548 AUTS2 A>G	7	70229548	70229548	A	G	AUTS2	c.1215-190A>G	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70229548A>G	(Likely) benign	1 lab	dad31843cb
5:90055509 ADGRV1 A>G	5	90055509	90055509	A	G	ADGRV1	c.12120+104A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90055509A>G	(Likely) benign	1 lab	dad409dde8
2:108622589 SLC5A7 C>T	2	108622589	108622589	C	T	SLC5A7	c.826C>T	NM_021815.5	NP_068587.1:p.(Leu276=)	NC_000002.11:g.108622589C>T	(Likely) benign	1 lab	dad6bc4bc1
2:169783826 ABCB11 C>T	2	169783826	169783826	C	T	ABCB11	c.3458G>A	NM_003742.4	NP_003733.2:p.(Arg1153His)	NC_000002.11:g.169783826C>T	(Likely) pathogenic	1 lab	dad7fa03a5
10:72358845 PRF1 G>A	10	72358845	72358845	G	A	PRF1	c.632C>T	NM_001083116.1	NP_001076585.1:p.(Ala211Val)	NC_000010.10:g.72358845G>A	(Likely) benign	1 lab	dad87d5695
9:35066579 VCP T>TA	9	35066579	35066592	T	TA	VCP	c.445+92dup	NM_007126.3	NP_009057.1:p.?	NC_000009.11:g.35066592dup	(Likely) benign	1 lab	dada43b376
15:93523998 CHD2 T>G	15	93523998	93523998	T	G	CHD2	c.2877-47T>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93523998T>G	(Likely) benign	1 lab	dadb482540
6:32629240 HLA-DQB1 G>A	6	32629240	32629240	G	A	HLA-DQB1	c.662-6C>T	NM_001243961.2	NP_001230890.1:p.?	NC_000006.11:g.32629240G>A	(Likely) benign	1 lab	d8f3663fbb
12:968402 WNK1 G>T	12	968402	968402	G	T	WNK1	c.1401-9G>T	NM_018979.4	NP_061852.3:p.?	NC_000012.11:g.968402G>T	(Likely) benign	1 lab	dae3dd2c8a
7:45103287 CCM2 T>G	7	45103287	45103287	T	G	CCM2	c.268-230T>G	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45103287T>G	(Likely) benign	1 lab	dae73fb9a7
16:4386961 GLIS2 G>A	16	4386961	4386961	G	A	GLIS2	c.1011G>A	NM_032575.2	NP_115964.2:p.(Pro337=)	NC_000016.9:g.4386961G>A	(Likely) benign	1 lab	daeaf46cab
1:200569551 KIF14 G>T	1	200569551	200569551	G	T	KIF14	c.2233C>A	NM_014875.3	NP_055690.1:p.(Arg745=)	NC_000001.10:g.200569551G>T	(Likely) benign	1 lab	daeb930418
3:107937432 IFT57 A>G	3	107937432	107937432	A	G	IFT57	c.444T>C	NM_018010.4	NP_060480.1:p.(Leu148=)	NC_000003.11:g.107937432A>G	(Likely) benign	1 lab	daec194cc2
9:137620666 COL5A1 C>T	9	137620666	137620666	C	T	COL5A1	c.924+13C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137620666C>T	(Likely) benign	1 lab	daee681e4f
21:34651963 IL10RB C>T	21	34651963	34651963	C	T	IL10RB				NC_000021.8:g.34651963C>T	(Likely) benign	1 lab	daee9d5c4d
17:38975307 KRT10 TGCCGCCGTGGCC>T	17	38975307	38975338	TGCCGCCGTGGCC	T	KRT10	c.1468_1479del	NM_000421.5	NP_000412.4:p.(Gly490_Gly493del)	NC_000017.10:g.38975327_38975338del	(Likely) benign	1 lab	d8f5478f75
5:156184787 SGCD A>C	5	156184787	156184787	A	C	SGCD	c.771A>C	NM_172244.3	NP_758447.1:p.(Ter257CysextTer24)	NC_000005.9:g.156184787A>C	VUS	1 lab	daf483d8b8
1:247587542 NLRP3 T>G	1	247587542	247587542	T	G	NLRP3	c.791T>G	NM_001243133.2	NP_001230062.1:p.(Leu264Arg)	NC_000001.10:g.247587542T>G	(Likely) pathogenic	1 lab	daf8816196
17:78165166 CARD14 C>G	17	78165166	78165166	C	G	CARD14	c.1134C>G	NM_024110.4	NP_077015.2:p.(Ser378Arg)	NC_000017.10:g.78165166C>G	(Likely) benign	1 lab	dafb7b44c6
11:22283766 ANO5 C>T	11	22283766	22283766	C	T	ANO5	c.1722C>T	NM_213599.2	NP_998764.1:p.(Tyr574=)	NC_000011.9:g.22283766C>T	(Likely) benign	1 lab	dafc27c851
14:64548293 SYNE2 G>C	14	64548293	64548293	G	C	SYNE2	c.11479G>C	NM_182914.2	NP_878918.2:p.(Val3827Leu)	NC_000014.8:g.64548293G>C	(Likely) benign	1 lab	dafed36e69
21:47402692 COL6A1 C>T	21	47402692	47402692	C	T	COL6A1	c.227+15C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47402692C>T	(Likely) benign	1 lab	db00c12630
4:79391392 FRAS1 G>A	4	79391392	79391392	G	A	FRAS1	c.7371+147G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391392G>A	(Likely) benign	1 lab	db01d55e98
10:121432033 BAG3 G>GC	10	121432033	121432037	G	GC	BAG3	c.778dup	NM_004281.3	NP_004272.2:p.(Leu260ProfsTer59)	NC_000010.10:g.121432037dup	(Likely) pathogenic	1 lab	db067d8f9b
14:105177531 INF2 G>A	14	105177531	105177531	G	A	INF2	c.2418+8G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105177531G>A	(Likely) benign	1 lab	db084a98e0
1:3753043 CEP104 T>TTTG	1	3753043	3753046	T	TTTG	CEP104	c.1317+15_1317+16insCAA	NM_014704.3	NP_055519.1:p.?	NC_000001.10:g.3753045_3753046insGTT	(Likely) benign	1 lab	db0c4eb53e
4:79285209 FRAS1 G>A	4	79285209	79285209	G	A	FRAS1	c.2722+1G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79285209G>A	(Likely) pathogenic	1 lab	db122e4a25
21:46311778 ITGB2 C>T	21	46311778	46311778	C	T	ITGB2	c.1358G>A	NM_001127491.3	NP_001120963.2:p.(Ser453Asn)	NC_000021.8:g.46311778C>T	(Likely) benign	1 lab	db132c3db6
1:43394882 SLC2A1 G>A	1	43394882	43394882	G	A	SLC2A1	c.971C>T	NM_006516.3	NP_006507.2:p.(Ser324Leu)	NC_000001.10:g.43394882G>A	(Likely) pathogenic	1 lab	db14fad530
4:79371474 FRAS1 C>T	4	79371474	79371474	C	T	FRAS1	c.6444C>T	NM_025074.7	NP_079350.5:p.(Thr2148=)	NC_000004.11:g.79371474C>T	(Likely) benign	1 lab	db1a67f5ad
1:237969419 RYR2 C>T	1	237969419	237969419	C	T	RYR2	c.14152-18C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237969419C>T	(Likely) benign	1 lab	db22375b63
16:53913911 FTO CT>C	16	53913911	53913924	CT	C	FTO	c.1119+25del	NM_001080432.3	NP_001073901.1:p.?	NC_000016.9:g.53913924del	(Likely) benign	1 lab	db2598e38d
3:186293745 DNAJB11 T>C	3	186293745	186293745	T	C	DNAJB11	c.323+19T>C	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186293745T>C	(Likely) benign	1 lab	db267e552c
17:63534478 AXIN2 G>A	17	63534478	63534478	G	A	AXIN2	c.1060-17C>T	NM_004655.3	NP_004646.3:p.?	NC_000017.10:g.63534478G>A	(Likely) benign	1 lab	db26e2ef5f
5:88027673 MEF2C G>C	5	88027673	88027673	G	C	MEF2C	c.683C>G	NM_002397.5	NP_002388.2:p.(Ser228Ter)	NC_000005.9:g.88027673G>C	(Likely) pathogenic	1 lab	db29fb0888
17:79826955 ARHGDIA C>T	17	79826955	79826955	C	T	ARHGDIA	c.416-4G>A	NM_001185077.3	NP_001172006.1:p.?	NC_000017.10:g.79826955C>T	(Likely) benign	1 lab	db2a605e46
1:201036006 CACNA1S G>A	1	201036006	201036006	G	A	CACNA1S	c.2657+9C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201036006G>A	(Likely) benign	1 lab	db2bd61e26
5:65349879 ERBIN C>T	5	65349879	65349879	C	T	ERBIN	c.2733C>T	NM_001253697.2	NP_001240626.1:p.(Val911=)	NC_000005.9:g.65349879C>T	(Likely) benign	1 lab	db2d554cfb
8:100871613 VPS13B T>C	8	100871613	100871613	T	C	VPS13B	c.11024T>C	NM_017890.4	NP_060360.3:p.(Phe3675Ser)	NC_000008.10:g.100871613T>C	VUS	1 lab	db33973dbd
5:55206398 IL31RA G>A	5	55206398	55206398	G	A	IL31RA	c.1540G>A	NM_139017.6	NP_620586.3:p.(Glu514Lys)	NC_000005.9:g.55206398G>A	(Likely) benign	1 lab	db3420177a
18:60027209 TNFRSF11A A>T	18	60027209	60027209	A	T	TNFRSF11A				NC_000018.9:g.60027209A>T	(Likely) benign	1 lab	db37d7b844
9:124062146 GSN C>T	9	124062146	124062146	C	T	GSN	c.7C>T	NM_000177.5	NP_000168.1:p.(Pro3Ser)	NC_000009.11:g.124062146C>T	VUS	1 lab	db394ee00d
12:49446161 KMT2D G>A	12	49446161	49446161	G	A	KMT2D	c.1305C>T	NM_003482.3	NP_003473.3:p.(Asn435=)	NC_000012.11:g.49446161G>A	(Likely) benign	1 lab	db3cc13efc
18:12377152 AFG3L2 G>A	18	12377152	12377152	G	A	AFG3L2	c.-71C>T	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12377152G>A	(Likely) benign	1 lab	db41f3bd99
14:74417180 COQ6 G>T	14	74417180	74417180	G	T	COQ6	c.145G>T	NM_182476.3	NP_872282.1:p.(Ala49Ser)	NC_000014.8:g.74417180G>T	(Likely) benign	1 lab	db45803feb
19:15291633 NOTCH3 C>T	19	15291633	15291633	C	T	NOTCH3	c.3001G>A	NM_000435.3	NP_000426.2:p.(Val1001Met)	NC_000019.9:g.15291633C>T	VUS	1 lab	d8fe992287
11:118373835 KMT2A A>G	11	118373835	118373835	A	G	KMT2A	c.7228A>G	NM_001197104.1	NP_001184033.1:p.(Met2410Val)	NC_000011.9:g.118373835A>G	(Likely) benign	1 lab	db45e7098b
14:105843099 PACS2 G>A	14	105843099	105843099	G	A	PACS2	c.802-6G>A	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105843099G>A	(Likely) benign	1 lab	db466d9ce6
1:235938272 LYST A>AC	1	235938272	235938273	A	AC	LYST	c.5574_5575insG	NM_000081.3	NP_000072.2:p.(Ser1859ValfsTer24)	NC_000001.10:g.235938272_235938273insC	(Likely) pathogenic	1 lab	db486a9f7f
19:11283798 KANK2 A>G	19	11283798	11283798	A	G	KANK2	c.2070T>C	NM_001136191.2	NP_001129663.1:p.(Gly690=)	NC_000019.9:g.11283798A>G	(Likely) benign	1 lab	db489ec885
9:128104528 GAPVD1 A>C	9	128104528	128104528	A	C	GAPVD1	c.2996A>C	NM_001282679.2	NP_001269608.1:p.(Gln999Pro)	NC_000009.11:g.128104528A>C	(Likely) benign	1 lab	db48d33d6b
12:112920006 PTPN11 A>G	12	112920006	112920006	A	G	PTPN11	c.1221A>G	NM_002834.3	NP_002825.3:p.(Gly407=)	NC_000012.11:g.112920006A>G	(Likely) benign	1 lab	db5008bc25
2:234091159 INPP5D G>A	2	234091159	234091159	G	A	INPP5D	c.2161+14G>A	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.234091159G>A	(Likely) benign	1 lab	db560b5a6d
14:90870740 CALM1 C>T	14	90870740	90870740	C	T	CALM1	c.303C>T	NM_006888.6	NP_008819.1:p.(Ile101=)	NC_000014.8:g.90870740C>T	(Likely) benign	1 lab	db57bdec8f
4:2831434 SH3BP2 C>T	4	2831434	2831434	C	T	SH3BP2	c.801C>T	NM_003023.4	NP_003014.3:p.(Cys267=)	NC_000004.11:g.2831434C>T	(Likely) benign	1 lab	db581b926e
16:3299642 MEFV G>C	16	3299642	3299642	G	C	MEFV	c.1049C>G	NM_000243.2	NP_000234.1:p.(Pro350Arg)	NC_000016.9:g.3299642G>C	VUS	1 lab	db5fa37be7
2:32449871 NLRC4 ATTTT>A	2	32449871	32449879	ATTTT	A	NLRC4	c.2783-41_2783-38del	NM_001199138.2	NP_001186067.1:p.?	NC_000002.11:g.32449876_32449879del	(Likely) benign	1 lab	db5fdb58cf
17:78182014 CARD14 G>A	17	78182014	78182014	G	A	CARD14	c.2885G>A	NM_024110.4	NP_077015.2:p.(Arg962Gln)	NC_000017.10:g.78182014G>A	(Likely) benign	1 lab	db643d7cb0
9:34635699 SIGMAR1 T>C	9	34635699	34635699	T	C	SIGMAR1	c.602A>G	NM_005866.4	NP_005857.1:p.(Tyr201Cys)	NC_000009.11:g.34635699T>C	VUS	1 lab	db6df931d9
19:49520037 LHB C>T	19	49520037	49520037	C	T	LHB	c.16-66G>A	NM_000894.2	NP_000885.1:p.?	NC_000019.9:g.49520037C>T	(Likely) benign	1 lab	db73598a6c
X:109561082 AMMECR1 G>T	X	109561082	109561082	G	T	AMMECR1	c.218C>A	NM_015365.3	NP_056180.1:p.(Pro73His)	NC_000023.10:g.109561082G>T	VUS	1 lab	d8fef242ad
1:200534712 KIF14 C>T	1	200534712	200534712	C	T	KIF14	c.3747G>A	NM_014875.3	NP_055690.1:p.(Ser1249=)	NC_000001.10:g.200534712C>T	(Likely) benign	1 lab	db77bbb52b
10:96006281 PLCE1 G>A	10	96006281	96006281	G	A	PLCE1	c.2999G>A	NM_016341.3	NP_057425.3:p.(Ser1000Asn)	NC_000010.10:g.96006281G>A	(Likely) benign	1 lab	db7a4040f7
X:12906027 TLR7 T>C	X	12906027	12906027	T	C	TLR7	c.2400T>C	NM_016562.4	NP_057646.1:p.(His800=)	NC_000023.10:g.12906027T>C	(Likely) benign	1 lab	db7aa255f6
2:48027363 MSH6 G>C	2	48027363	48027363	G	C	MSH6	c.2241G>C	NM_000179.2	NP_000170.1:p.(Leu747=)	NC_000002.11:g.48027363G>C	VUS	1 lab	db9b1ae8b9
2:168108032 XIRP2 G>A	2	168108032	168108032	G	A	XIRP2	c.10130G>A	NM_152381.6	NP_689594.4:p.(Gly3377Glu)	NC_000002.11:g.168108032G>A	(Likely) benign	1 lab	db7e0c2178
15:43501067 EPB42 T>C	15	43501067	43501067	T	C	EPB42	c.923-94A>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43501067T>C	(Likely) benign	1 lab	db7e1a494a
14:24620568 RNF31 G>T	14	24620568	24620568	G	T	RNF31	c.1717G>T	NM_017999.5	NP_060469.4:p.(Val573Leu)	NC_000014.8:g.24620568G>T	(Likely) benign	1 lab	db7f173604
20:30674588 HCK C>T	20	30674588	30674588	C	T	HCK	c.933C>T	NM_001172132.2	NP_001165603.1:p.(Ile311=)	NC_000020.10:g.30674588C>T	(Likely) benign	1 lab	db84e2cfad
4:79334264 FRAS1 T>A	4	79334264	79334264	T	A	FRAS1	c.4425+25T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79334264T>A	(Likely) benign	1 lab	db87ff7b2c
11:47364109 MYBPC3 GC>G	11	47364109	47364116	GC	G	MYBPC3	c.1624+19del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364116del	(Likely) benign	1 lab	db8db2ef50
4:151412049 LRBA C>T	4	151412049	151412049	C	T	LRBA	c.6448+21G>A	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151412049C>T	(Likely) benign	1 lab	db8e9d82e9
12:110013828 MVK T>C	12	110013828	110013828	T	C	MVK	c.104T>C	NM_000431.2	NP_000422.1:p.(Leu35Ser)	NC_000012.11:g.110013828T>C	(Likely) pathogenic	1 lab	db9bb593e7
16:31199610 FUS GT>G	16	31199610	31199620	GT	G	FUS	c.800-26del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31199620del	(Likely) benign	1 lab	dba49ecbad
18:43446868 EPG5 G>A	18	43446868	43446868	G	A	EPG5	c.6516C>T	NM_020964.3	NP_066015.2:p.(Tyr2172=)	NC_000018.9:g.43446868G>A	(Likely) benign	1 lab	dba55c4e27
1:6272081 RNF207 G>C	1	6272081	6272081	G	C	RNF207	c.1264G>C	NM_207396.3	NP_997279.2:p.(Glu422Gln)	NC_000001.10:g.6272081G>C	VUS	1 lab	dba77b1abf
1:43897181 SZT2 C>T	1	43897181	43897181	C	T	SZT2	c.4904C>T	NM_015284.4	NP_056099.3:p.(Thr1635Ile)	NC_000001.10:g.43897181C>T	(Likely) benign	1 lab	dbab5e90bb
3:38770125 SCN10A A>G	3	38770125	38770125	A	G	SCN10A	c.2548T>C	NM_006514.4	NP_006505.4:p.(Trp850Arg)	NC_000003.11:g.38770125A>G	VUS	1 lab	d904a5d5a9
17:61428700 TANC2 G>T	17	61428700	61428700	G	T	TANC2	c.1675G>T	NM_025185.4	NP_079461.2:p.(Val559Leu)	NC_000017.10:g.61428700G>T	VUS	1 lab	d90533dc19
1:6271125 RNF207 A>G	1	6271125	6271125	A	G	RNF207	c.1056A>G	NM_207396.3	NP_997279.2:p.(Pro352=)	NC_000001.10:g.6271125A>G	(Likely) benign	1 lab	dbae6503d5
1:120497654 NOTCH2 G>A	1	120497654	120497654	G	A	NOTCH2	c.2219+9C>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120497654G>A	(Likely) benign	1 lab	dbb57bfe71
9:101546224 ANKS6 C>T	9	101546224	101546224	C	T	ANKS6	c.1112+11G>A	NM_173551.5	NP_775822.3:p.?	NC_000009.11:g.101546224C>T	(Likely) benign	1 lab	dbbd20fa24
1:179528963 NPHS2 C>T	1	179528963	179528963	C	T	NPHS2	c.452-67G>A	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179528963C>T	(Likely) benign	1 lab	dbbf4627fd
1:5937289 NPHP4 T>C	1	5937289	5937289	T	C	NPHP4	c.2681A>G	NM_015102.5	NP_055917.1:p.(His894Arg)	NC_000001.10:g.5937289T>C	(Likely) benign	1 lab	2bad9e25e2
2:179436746 TTN C>T	2	179436746	179436746	C	T	TTN	c.74113G>A	NM_001267550.1	NP_001254479.1:p.(Val24705Met)	NC_000002.11:g.179436746C>T	VUS	1 lab	dbc13ad131
10:70182359 DNA2 GCT>G	10	70182359	70182363	GCT	G	DNA2	c.2403_2404del	NM_001080449.3	NP_001073918.2:p.(Arg801SerfsTer6)	NC_000010.10:g.70182362_70182363del	(Likely) pathogenic	1 lab	d905b30fe4
6:49399239 MMUT AT>A	6	49399239	49399249	AT	A	MMUT	c.*201del	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49399249del	(Likely) benign	1 lab	dbc641b603
18:32259558 DTNA T>G	18	32259558	32259558	T	G	DTNA	c.-2+2T>G	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32259558T>G	VUS	1 lab	dbc8755427
X:48542796 WAS G>A	X	48542796	48542796	G	A	WAS	c.257G>A	NM_000377.2	NP_000368.1:p.(Arg86His)	NC_000023.10:g.48542796G>A	VUS	1 lab	dbc8f527e3
16:50733614 NOD2 A>G	16	50733614	50733614	A	G	NOD2	c.289A>G	NM_022162.1	NP_071445.1:p.(Thr97Ala)	NC_000016.9:g.50733614A>G	(Likely) benign	1 lab	dbca1ea37f
20:43251252 ADA C>T	20	43251252	43251252	C	T	ADA	c.822G>A	NM_000022.2	NP_000013.2:p.(Pro274=)	NC_000020.10:g.43251252C>T	(Likely) benign	1 lab	dbca86bb64
4:79285133 FRAS1 G>A	4	79285133	79285133	G	A	FRAS1	c.2647G>A	NM_025074.7	NP_079350.5:p.(Val883Met)	NC_000004.11:g.79285133G>A	(Likely) benign	1 lab	dbcaa55cfa
2:121742111 GLI2 A>G	2	121742111	121742111	A	G	GLI2	c.1748A>G	NM_005270.5	NP_005261.2:p.(Lys583Arg)	NC_000002.11:g.121742111A>G	VUS	1 lab	d90962823e
18:29126100 DSG2 G>A	18	29126100	29126100	G	A	DSG2	c.2751G>A	NM_001943.3	NP_001934.2:p.(Ala917=)	NC_000018.9:g.29126100G>A	(Likely) benign	1 lab	dbdb9b8f34
X:20213171 RPS6KA3 G>T	X	20213171	20213171	G	T	RPS6KA3	c.406+12C>A	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20213171G>T	(Likely) benign	1 lab	dbddca3690
12:53449489 TNS2 C>T	12	53449489	53449489	C	T	TNS2	c.726+15C>T	NM_015319.2	NP_056134.2:p.?	NC_000012.11:g.53449489C>T	(Likely) benign	1 lab	dbdf2b452f
16:88799150 PIEZO1 G>C	16	88799150	88799150	G	C	PIEZO1	c.2665-10C>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799150G>C	(Likely) benign	1 lab	dbdfb11b85
7:103322621 RELN G>T	7	103322621	103322621	G	T	RELN	c.1231C>A	NM_005045.4	NP_005036.2:p.(Leu411Ile)	NC_000007.13:g.103322621G>T	VUS	1 lab	d9099af58c
17:41215906 BRCA1 C>T	17	41215906	41215906	C	T	BRCA1	c.5137G>A	NM_007294.3	NP_009225.1:p.(Val1713Ile)	NC_000017.10:g.41215906C>T	(Likely) benign	1 lab	dbe4671cf2
11:33755169 CD59 T>TA	11	33755169	33755180	T	TA	CD59	c.-179-14dup	NM_203330.2	NP_976075.1:p.?	NC_000011.9:g.33755180dup	(Likely) benign	1 lab	dbe5620b2e
11:64577581 MEN1 T>C	11	64577581	64577581	T	C	MEN1	c.1A>G	NM_000244.3	NP_000235.2:p.(Met1?)	NC_000011.9:g.64577581T>C	(Likely) pathogenic	1 lab	dbe5b0ffe5
10:79753126 POLR3A C>T	10	79753126	79753126	C	T	POLR3A	c.2617-1G>A	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79753126C>T	(Likely) pathogenic	1 lab	dbe60782ad
12:2613692 CACNA1C G>A	12	2613692	2613692	G	A	CACNA1C	c.1204G>A	NM_001167625.1	NP_001161097.1:p.(Gly402Ser)	NC_000012.11:g.2613692G>A	(Likely) pathogenic	1 lab	dbe7e0bba8
6:33643512 ITPR3 T>C	6	33643512	33643512	T	C	ITPR3	c.3161T>C	NM_002224.3	NP_002215.2:p.(Met1054Thr)	NC_000006.11:g.33643512T>C	(Likely) benign	1 lab	dbe8224ed8
11:47834482 NUP160 G>A	11	47834482	47834482	G	A	NUP160	c.1904C>T	NM_015231.2	NP_056046.1:p.(Pro635Leu)	NC_000011.9:g.47834482G>A	(Likely) benign	1 lab	dbeeef6cb0
7:107198449 COG5 C>T	7	107198449	107198449	C	T	COG5	c.206G>A	NM_001161520.2	NP_001154992.2:p.(Ser69Asn)	NC_000007.13:g.107198449C>T	VUS	1 lab	d90c3df37b
X:122532472 GRIA3 A>G	X	122532472	122532472	A	G	GRIA3	c.913-15A>G	NM_000828.4	NP_000819.3:p.?	NC_000023.10:g.122532472A>G	(Likely) benign	1 lab	dbf20b7e71
11:2189308 TH G>A	11	2189308	2189308	G	A	TH	c.669+13C>T	NM_199292.3	NP_954986.2:p.?	NC_000011.9:g.2189308G>A	(Likely) benign	1 lab	d90da1153d
1:160322739 NCSTN C>T	1	160322739	160322739	C	T	NCSTN	c.1059C>T	NM_015331.3	NP_056146.1:p.(Pro353=)	NC_000001.10:g.160322739C>T	(Likely) benign	1 lab	dbf6f8c235
12:110028607 MVK A>T	12	110028607	110028607	A	T	MVK	c.709A>T	NM_000431.2	NP_000422.1:p.(Thr237Ser)	NC_000012.11:g.110028607A>T	(Likely) pathogenic	1 lab	dbf98cbe23
11:62678062 CHRM1 G>A	11	62678062	62678062	G	A	CHRM1	c.511C>T	NM_000738.3	NP_000729.2:p.(Arg171Trp)	NC_000011.9:g.62678062G>A	VUS	1 lab	d90dcb24f8
6:7585585 DSP G>A	6	7585585	7585585	G	A	DSP	c.8090G>A	NM_004415.2	NP_004406.2:p.(Gly2697Asp)	NC_000006.11:g.7585585G>A	VUS	1 lab	dc005fe987
6:32628045 HLA-DQB1 C>G	6	32628045	32628045	C	G	HLA-DQB1	c.797-19G>C	NM_001243961.2	NP_001230890.1:p.?	NC_000006.11:g.32628045C>G	(Likely) benign	1 lab	d915fff68a
15:90191708 KIF7 G>A	15	90191708	90191708	G	A	KIF7	c.1221C>T	NM_198525.3	NP_940927.2:p.(Ala407=)	NC_000015.9:g.90191708G>A	(Likely) benign	1 lab	dc04cb5157
19:36228980 KMT2B G>A	19	36228980	36228980	G	A	KMT2B	c.7760G>A	NM_014727.3	NP_055542.1:p.(Arg2587Gln)	NC_000019.9:g.36228980G>A	VUS	1 lab	d9189df629
10:115349462 NRAP A>T	10	115349462	115349462	A	T	NRAP	c.5051T>A	NM_001261463.1	NP_001248392.1:p.(Leu1684Gln)	NC_000010.10:g.115349462A>T	(Likely) benign	1 lab	dc0a3d0f57
X:30327367 NR0B1 G>A	X	30327367	30327367	G	A	NR0B1	c.114C>T	NM_000475.5	NP_000466.2:p.(Cys38=)	NC_000023.10:g.30327367G>A	(Likely) benign	1 lab	dc12ec057b
16:3293257 MEFV C>T	16	3293257	3293257	C	T	MEFV	c.2230G>A	NM_000243.2	NP_000234.1:p.(Ala744Thr)	NC_000016.9:g.3293257C>T	(Likely) pathogenic	1 lab	dc1343c441
9:139266496 CARD9 C>T	9	139266496	139266496	C	T	CARD9	c.35G>A	NM_052814.4	NP_434701.1:p.(Ser12Asn)	NC_000009.11:g.139266496C>T	(Likely) benign	1 lab	dc13aff574
18:48575052 SMAD4 C>A	18	48575052	48575052	C	A	SMAD4	c.250-4C>A	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48575052C>A	(Likely) benign	1 lab	dc156842d1
22:36657740 APOL1 G>A	22	36657740	36657740	G	A	APOL1	c.334G>A	NM_145343.2	NP_663318.1:p.(Gly112Arg)	NC_000022.10:g.36657740G>A	(Likely) benign	1 lab	dc175fae66
16:81925059 PLCG2 C>T	16	81925059	81925059	C	T	PLCG2	c.868-18C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81925059C>T	(Likely) benign	1 lab	dc1b97ca32
13:40261945 COG6 A>G	13	40261945	40261945	A	G	COG6	c.1009+9A>G	NM_020751.3	NP_065802.1:p.?	NC_000013.10:g.40261945A>G	(Likely) benign	1 lab	dc1e113ce9
10:18439917 CACNB2 A>G	10	18439917	18439917	A	G	CACNB2	c.129+13A>G	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439917A>G	(Likely) benign	1 lab	dc20f8787f
20:36322570 CTNNBL1 AG>A	20	36322570	36322573	AG	A	CTNNBL1	c.30+19del	NM_030877.5	NP_110517.2:p.?	NC_000020.10:g.36322573del	(Likely) benign	1 lab	dc230ba08a
2:20153619 WDR35 C>T	2	20153619	20153619	C	T	WDR35	c.1409G>A	NM_001006657.2	NP_001006658.1:p.(Arg470Gln)	NC_000002.11:g.20153619C>T	(Likely) benign	1 lab	dc2384b89d
10:21147194 NEBL A>C	10	21147194	21147194	A	C	NEBL	c.878T>G	NM_006393.2	NP_006384.1:p.(Leu293Trp)	NC_000010.10:g.21147194A>C	VUS	1 lab	dc275a0a71
16:27751984 KATNIP C>T	16	27751984	27751984	C	T	KATNIP	c.2366C>T	NM_015202.3	NP_056017.3:p.(Pro789Leu)	NC_000016.9:g.27751984C>T	(Likely) benign	1 lab	dc28a338cc
17:73744919 ITGB4 C>T	17	73744919	73744919	C	T	ITGB4	c.3112-3C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73744919C>T	(Likely) benign	1 lab	dc28b245aa
8:96275895 CFAP418 A>G	8	96275895	96275895	A	G	CFAP418	c.243+20T>C	NM_177965.4	NP_808880.1:p.?	NC_000008.10:g.96275895A>G	(Likely) benign	1 lab	dc2ce8a986
9:136310917 ADAMTS13 C>T	9	136310917	136310917	C	T	ADAMTS13	c.2708C>T	NM_139025.4	NP_620594.1:p.(Ser903Leu)	NC_000009.11:g.136310917C>T	(Likely) benign	1 lab	dc2ef09375
17:39925290 JUP G>A	17	39925290	39925290	G	A	JUP	c.638C>T	NM_021991.2	NP_068831.1:p.(Ser213Phe)	NC_000017.10:g.39925290G>A	VUS	1 lab	dc33a5f2bf
2:152436106 NEB C>T	2	152436106	152436106	C	T	NEB	c.16450G>A	NM_001271208.1	NP_001258137.1:p.(Ala5484Thr)	NC_000002.11:g.152436106C>T	(Likely) benign	1 lab	dc3ae8559b
19:36321820 NPHS1 G>A	19	36321820	36321820	G	A	NPHS1	c.3520C>T	NM_004646.3	NP_004637.1:p.(His1174Tyr)	NC_000019.9:g.36321820G>A	(Likely) benign	1 lab	dc3eab7737
14:64519654 SYNE2 T>C	14	64519654	64519654	T	C	SYNE2	c.9023T>C	NM_182914.2	NP_878918.2:p.(Ile3008Thr)	NC_000014.8:g.64519654T>C	(Likely) benign	1 lab	dc3f37a637
2:179438210 TTN CT>C	2	179438210	179438211	CT	C	TTN	c.72648del	NM_001267550.2	NP_001254479.2:p.(Val24217Ter)	NC_000002.11:g.179438211del	(Likely) pathogenic	1 lab	d91abd5054
19:41838075 TGFB1 C>T	19	41838075	41838075	C	T	TGFB1	c.972G>A	NM_000660.7	NP_000651.3:p.(Gly324=)	NC_000019.9:g.41838075C>T	(Likely) benign	1 lab	dc40910df3
14:92560294 ATXN3 T>TG	14	92560294	92560295	T	TG	ATXN3	c.235-120_235-119insC	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92560294_92560295insG	(Likely) benign	1 lab	dc43ad4b1a
1:155161689 MUC1 C>G	1	155161689	155161689	C	G	MUC1	c.461+10G>C	NM_001204286.1	NP_001191215.1:p.?	NC_000001.10:g.155161689C>G	(Likely) benign	1 lab	dc442e1a6b
16:10274178 GRIN2A G>T	16	10274178	10274178	G	T	GRIN2A	c.91C>A	NM_001134407.3	NP_001127879.1:p.(Pro31Thr)	NC_000016.9:g.10274178G>T	(Likely) benign	1 lab	d91c2bb35a
1:210977447 KCNH1 G>A	1	210977447	210977447	G	A	KCNH1	c.1524C>T	NM_172362.3	NP_758872.1:p.(Asn508=)	NC_000001.10:g.210977447G>A	(Likely) benign	1 lab	dc4b4c501b
11:101362467 TRPC6 A>G	11	101362467	101362467	A	G	TRPC6	c.948T>C	NM_004621.6	NP_004612.2:p.(Asn316=)	NC_000011.9:g.101362467A>G	(Likely) benign	1 lab	dc4e74e915
5:156514209 HAVCR2 G>A	5	156514209	156514209	G	A	HAVCR2	c.810C>T	NM_032782.5	NP_116171.3:p.(Asn270=)	NC_000005.9:g.156514209G>A	(Likely) benign	1 lab	dc521a4ab8
12:21015737 SLCO1B3 C>G	12	21015737	21015737	C	G	SLCO1B3	c.676C>G	NM_019844.3	NP_062818.1:p.(Leu226Val)	NC_000012.11:g.21015737C>G	(Likely) benign	1 lab	dc52435d54
1:247599232 NLRP3 G>A	1	247599232	247599232	G	A	NLRP3	c.2493-40G>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247599232G>A	(Likely) benign	1 lab	dc5b2d6a61
18:29100766 DSG2 A>G	18	29100766	29100766	A	G	DSG2	c.217A>G	NM_001943.3	NP_001934.2:p.(Ile73Val)	NC_000018.9:g.29100766A>G	VUS	1 lab	dc65bb660c
4:79429933 FRAS1 G>A	4	79429933	79429933	G	A	FRAS1	c.9553G>A	NM_025074.7	NP_079350.5:p.(Gly3185Arg)	NC_000004.11:g.79429933G>A	(Likely) benign	1 lab	dc6de1262a
21:45709542 AIRE G>A	21	45709542	45709542	G	A	AIRE				NC_000021.8:g.45709542G>A	(Likely) benign	1 lab	dc705772c0
3:169098992 MECOM G>T	3	169098992	169098992	G	T	MECOM	c.358C>A	NM_004991.4	NP_004982.2:p.(Pro120Thr)	NC_000003.11:g.169098992G>T	VUS	1 lab	dc7739dd22
7:30693212 CRHR2 C>T	7	30693212	30693212	C	T	CRHR2	c.1058G>A	NM_001202481.1	NP_001189410.1:p.(Arg353His)	NC_000007.13:g.30693212C>T	(Likely) benign	1 lab	dc7a64df54
16:31500495 SLC5A2 AT>A	16	31500495	31500497	AT	A	SLC5A2	c.1503del	NM_003041.4	NP_003032.1:p.(Glu503SerfsTer94)	NC_000016.9:g.31500497del	(Likely) pathogenic	1 lab	dc80c83a7e
5:35876449 IL7R C>T	5	35876449	35876449	C	T	IL7R				NC_000005.9:g.35876449C>T	(Likely) benign	1 lab	dc89028385
11:67811641 TCIRG1 C>T	11	67811641	67811641	C	T	TCIRG1	c.850C>T	NM_006019.4	NP_006010.2:p.(Arg284Trp)	NC_000011.9:g.67811641C>T	VUS	1 lab	d922c32e9a
16:3304374 MEFV A>G	16	3304374	3304374	A	G	MEFV	c.694T>C	NM_000243.2	NP_000234.1:p.(Tyr232His)	NC_000016.9:g.3304374A>G	VUS	1 lab	dc8f8d040d
16:1245062 CACNA1H C>T	16	1245062	1245062	C	T	CACNA1H	c.390C>T	NM_021098.3	NP_066921.2:p.(Ser130=)	NC_000016.9:g.1245062C>T	(Likely) benign	1 lab	dc91d96e29
11:67816539 TCIRG1 G>C	11	67816539	67816539	G	C	TCIRG1				NC_000011.9:g.67816539G>C	(Likely) benign	1 lab	dc9928b8a5
7:98609706 TRRAP C>A	7	98609706	98609706	C	A	TRRAP	c.11308C>A	NM_001244580.2	NP_001231509.1:p.(Leu3770Met)	NC_000007.13:g.98609706C>A	VUS	1 lab	d927072502
9:97869467 FANCC C>T	9	97869467	97869467	C	T	FANCC	c.1414G>A	NM_000136.2	NP_000127.2:p.(Gly472Arg)	NC_000009.11:g.97869467C>T	(Likely) benign	1 lab	dca589ec7f
15:42113921 MAPKBP1 C>T	15	42113921	42113921	C	T	MAPKBP1	c.2876C>T	NM_001128608.2	NP_001122080.1:p.(Pro959Leu)	NC_000015.9:g.42113921C>T	(Likely) benign	1 lab	dca9abe363
12:2797924 CACNA1C T>C	12	2797924	2797924	T	C	CACNA1C	c.6096T>C	NM_001167623.2	NP_001161095.1:p.(Ser2032=)	NC_000012.11:g.2797924T>C	VUS	1 lab	dcaa559a74
16:69726244 NFAT5 A>G	16	69726244	69726244	A	G	NFAT5	c.2234A>G	NM_138714.4	NP_619728.2:p.(Asn745Ser)	NC_000016.9:g.69726244A>G	(Likely) benign	1 lab	dcabb67ddd
7:75687300 MDH2 C>T	7	75687300	75687300	C	T	MDH2	c.333C>T	NM_005918.3	NP_005909.2:p.(Asp111=)	NC_000007.13:g.75687300C>T	(Likely) benign	1 lab	dcac5d8cac
9:130591964 ENG A>G	9	130591964	130591964	A	G	ENG	c.360+2T>C	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130591964A>G	(Likely) pathogenic	1 lab	dcb2bd1168
19:1612386 TCF3 G>A	19	1612386	1612386	G	A	TCF3	c.1633C>T	NM_001351779.2	NP_001338708.1:p.(Arg545Trp)	NC_000019.9:g.1612386G>A	(Likely) benign	1 lab	dcbb47eaf2
8:41571826 ANK1 C>G	8	41571826	41571826	C	G	ANK1	c.1702-54G>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41571826C>G	(Likely) benign	1 lab	dcbc8f4794
2:191839630 STAT1 T>G	2	191839630	191839630	T	G	STAT1	c.2164A>C	NM_007315.3	NP_009330.1:p.(Asn722His)	NC_000002.11:g.191839630T>G	(Likely) benign	1 lab	dcc38f2a55
1:179521731 AXDND1 T>C	1	179521731	179521731	T	C	AXDND1	c.3032-1916T>C	NM_144696.6	NP_653297.3:p.?	NC_000001.10:g.179521731T>C	VUS	1 lab	dcc3bd727b
1:29379644 EPB41 T>C	1	29379644	29379644	T	C	EPB41	c.1665T>C	NM_001376013.1	NP_001362942.1:p.(Ser555=)	NC_000001.10:g.29379644T>C	(Likely) benign	1 lab	dcc76f5199
11:47869383 NUP160 C>A	11	47869383	47869383	C	A	NUP160	c.314+17G>T	NM_015231.2	NP_056046.1:p.?	NC_000011.9:g.47869383C>A	(Likely) benign	1 lab	dcce17b493
16:3781939 CREBBP C>G	16	3781939	3781939	C	G	CREBBP	c.4729-1G>C	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3781939C>G	(Likely) pathogenic	1 lab	d935ddca0f
1:113637220 LRIG2 T>G	1	113637220	113637220	T	G	LRIG2	c.660-14T>G	NM_014813.2	NP_055628.1:p.?	NC_000001.10:g.113637220T>G	(Likely) benign	1 lab	dcd450f809
14:23901876 MYH7 G>A	14	23901876	23901876	G	A	MYH7	c.474C>T	NM_000257.2	NP_000248.2:p.(Ser158=)	NC_000014.8:g.23901876G>A	(Likely) benign	1 lab	dcd5462d57
5:178395850 MISSING G>C	5	178395850	178395850	G	C	MISSING				NC_000005.9:g.178395850G>C	(Likely) benign	1 lab	d93794f699
16:4849702 ROGDI G>A	16	4849702	4849702	G	A	ROGDI	c.417C>T	NM_024589.2	NP_078865.1:p.(Gly139=)	NC_000016.9:g.4849702G>A	(Likely) benign	1 lab	dcdc670f8f
19:49519883 LHB A>G	19	49519883	49519883	A	G	LHB	c.104T>C	NM_000894.2	NP_000885.1:p.(Ile35Thr)	NC_000019.9:g.49519883A>G	(Likely) benign	1 lab	dcde10a442
4:107163675 TBCK C>A	4	107163675	107163675	C	A	TBCK	c.606G>T	NM_001290768.2	NP_001277697.2:p.(Ser202=)	NC_000004.11:g.107163675C>A	(Likely) benign	1 lab	dce625458d
1:3329327 PRDM16 G>A	1	3329327	3329327	G	A	PRDM16	c.2566G>A	NM_022114.4	NP_071397.3:p.(Ala856Thr)	NC_000001.10:g.3329327G>A	(Likely) benign	1 lab	dce9ab2268
4:2828941 SH3BP2 G>T	4	2828941	2828941	G	T	SH3BP2	c.429-16G>T	NM_003023.4	NP_003014.3:p.?	NC_000004.11:g.2828941G>T	(Likely) benign	1 lab	dce9ed1ec9
9:128070100 GAPVD1 A>G	9	128070100	128070100	A	G	GAPVD1	c.1382A>G	NM_001282679.2	NP_001269608.1:p.(Asn461Ser)	NC_000009.11:g.128070100A>G	(Likely) benign	1 lab	dcea7e3726
18:19076596 GREB1L G>A	18	19076596	19076596	G	A	GREB1L	c.3328G>A	NM_001142966.2	NP_001136438.1:p.(Asp1110Asn)	NC_000018.9:g.19076596G>A	(Likely) benign	1 lab	dcea843150
3:38671945 SCN5A C>T	3	38671945	38671945	C	T	SCN5A	c.274-25G>A	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38671945C>T	(Likely) benign	1 lab	dcee3838ae
11:4095801 STIM1 C>T	11	4095801	4095801	C	T	STIM1	c.861C>T	NM_001277961.1	NP_001264890.1:p.(Arg287=)	NC_000011.9:g.4095801C>T	(Likely) benign	1 lab	dcef945750
12:49445526 KMT2D G>T	12	49445526	49445526	G	T	KMT2D	c.1940C>A	NM_003482.3	NP_003473.3:p.(Pro647Gln)	NC_000012.11:g.49445526G>T	(Likely) benign	1 lab	dcf23a31c3
8:11615981 GATA4 G>A	8	11615981	11615981	G	A	GATA4	c.1326G>A	NM_002052.5	NP_002043.2:p.(Ala442=)	NC_000008.10:g.11615981G>A	(Likely) benign	1 lab	dcfa838235
22:40820273 MRTFA C>T	22	40820273	40820273	C	T	MRTFA	c.714G>A	NM_020831.6	NP_065882.2:p.(Pro238=)	NC_000022.10:g.40820273C>T	(Likely) benign	1 lab	dcfbb0f849
8:100286280 VPS13B T>C	8	100286280	100286280	T	C	VPS13B	c.2516-146T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100286280T>C	(Likely) benign	1 lab	dd07953a4d
1:228404668 OBSCN T>C	1	228404668	228404668	T	C	OBSCN	c.2378-46T>C	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228404668T>C	(Likely) benign	1 lab	dd0d2cb836
9:138660669 KCNT1 C>T	9	138660669	138660669	C	T	KCNT1	c.1402-6C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660669C>T	(Likely) benign	1 lab	dd159ac0b5
3:77623752 ROBO2 C>T	3	77623752	77623752	C	T	ROBO2	c.2086C>T	NM_001290040.2	NP_001276969.1:p.(Pro696Ser)	NC_000003.11:g.77623752C>T	(Likely) benign	1 lab	dd17f850d8
20:62076101 KCNQ2 G>A	20	62076101	62076101	G	A	KCNQ2	c.601C>T	NM_172107.4	NP_742105.1:p.(Arg201Cys)	NC_000020.10:g.62076101G>A	(Likely) pathogenic	1 lab	dd1e122bbd
10:8115700 GATA3 A>G	10	8115700	8115700	A	G	GATA3	c.1051-2A>G	NM_001002295.2	NP_001002295.1:p.?	NC_000010.10:g.8115700A>G	(Likely) pathogenic	1 lab	dd1ec72c3f
1:11298077 MTOR C>T	1	11298077	11298077	C	T	MTOR	c.2031G>A	NM_004958.3	NP_004949.1:p.(Ala677=)	NC_000001.10:g.11298077C>T	(Likely) benign	1 lab	dd21a945ba
15:59494618 MYO1E G>C	15	59494618	59494618	G	C	MYO1E	c.1617-12C>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59494618G>C	(Likely) benign	1 lab	dd21d3fa46
2:166786681 TTC21B C>T	2	166786681	166786681	C	T	TTC21B	c.1087+1G>A	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166786681C>T	(Likely) pathogenic	1 lab	dd23a71d79
5:148407262 SH3TC2 A>G	5	148407262	148407262	A	G	SH3TC2	c.2033T>C	NM_024577.3	NP_078853.2:p.(Phe678Ser)	NC_000005.9:g.148407262A>G	(Likely) benign	1 lab	dd26ba74fe
17:40766621 TUBG1 C>A	17	40766621	40766621	C	A	TUBG1	c.1104C>A	NM_001070.5	NP_001061.2:p.(Pro368=)	NC_000017.10:g.40766621C>A	(Likely) benign	1 lab	dd275d92eb
20:44048958 PIGT G>A	20	44048958	44048958	G	A	PIGT	c.770-14G>A	NM_015937.6	NP_057021.2:p.?	NC_000020.10:g.44048958G>A	(Likely) benign	1 lab	dd27a073d7
17:45810940 TBX21 G>C	17	45810940	45810940	G	C	TBX21	c.120G>C	NM_013351.2	NP_037483.1:p.(Pro40=)	NC_000017.10:g.45810940G>C	(Likely) benign	1 lab	dd2818b854
1:158580887 SPTA1 T>C	1	158580887	158580887	T	C	SPTA1	c.*167A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158580887T>C	(Likely) benign	1 lab	dd3131c4c2
2:209200628 PIKFYVE A>G	2	209200628	209200628	A	G	PIKFYVE	c.4365+3A>G	NM_015040.4	NP_055855.2:p.?	NC_000002.11:g.209200628A>G	(Likely) benign	1 lab	d9425fa608
21:34668714 IL10RB C>T	21	34668714	34668714	C	T	IL10RB				NC_000021.8:g.34668714C>T	VUS	1 lab	dd3a16bd32
22:24808643 SPECC1L G>A	22	24808643	24808643	G	A	SPECC1L	c.3232G>A	NM_015330.6	NP_056145.5:p.(Ala1078Thr)	NC_000022.10:g.24808643G>A	VUS	1 lab	d9449a2155
15:42137216 JMJD7-PLA2G4B G>C	15	42137216	42137216	G	C	JMJD7-PLA2G4B	c.1880G>C	NM_005090.3	NP_005081.1:p.(Ser627Thr)	NC_000015.9:g.42137216G>C	(Likely) benign	1 lab	dd4aaa8b1f
14:102486200 DYNC1H1 G>A	14	102486200	102486200	G	A	DYNC1H1	c.8344-30G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102486200G>A	(Likely) benign	1 lab	dd4d58a53b
1:113209685 CAPZA1 G>T	1	113209685	113209685	G	T	CAPZA1	c.586-11G>T	NM_006135.3	NP_006126.1:p.?	NC_000001.10:g.113209685G>T	(Likely) benign	1 lab	dd5222a8e5
14:65253749 SPTB C>T	14	65253749	65253749	C	T	SPTB	c.2934G>A	NM_001024858.3	NP_001020029.1:p.(Glu978=)	NC_000014.8:g.65253749C>T	(Likely) benign	1 lab	dd530017f4
20:62065204 KCNQ2 G>T	20	62065204	62065204	G	T	KCNQ2	c.1076C>A	NM_172107.4	NP_742105.1:p.(Thr359Lys)	NC_000020.10:g.62065204G>T	(Likely) pathogenic	1 lab	dd58d3ba7d
12:103249099 PAH A>T	12	103249099	103249099	A	T	PAH	c.521T>A	NM_000277.3	NP_000268.1:p.(Ile174Asn)	NC_000012.11:g.103249099A>T	VUS	1 lab	dd5eeb3ddb
1:201337317 TNNT2 C>G	1	201337317	201337317	C	G	TNNT2	c.106G>C	NM_001276347.2	NP_001263276.1:p.(Ala36Pro)	NC_000001.10:g.201337317C>G	VUS	1 lab	dd62457297
2:148936370 MBD5 G>GT	2	148936370	148936371	G	GT	MBD5	c.-831+9dup	NM_018328.4	NP_060798.2:p.?	NC_000002.11:g.148936371dup	(Likely) benign	1 lab	dd6454313e
11:8158914 RIC3 T>C	11	8158914	8158914	T	C	RIC3	c.521+11A>G	NM_001206671.4	NP_001193600.1:p.?	NC_000011.9:g.8158914T>C	(Likely) benign	1 lab	dd6627f780
19:36317463 NPHS1 G>C	19	36317463	36317463	G	C	NPHS1	c.3679C>G	NM_004646.3	NP_004637.1:p.(Leu1227Val)	NC_000019.9:g.36317463G>C	(Likely) benign	1 lab	dd662c7b47
7:151273594 PRKAG2 CT>C	7	151273594	151273604	CT	C	PRKAG2	c.865-57del	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151273604del	(Likely) benign	1 lab	dd680427d4
21:34640841 IL10RB T>C	21	34640841	34640841	T	C	IL10RB				NC_000021.8:g.34640841T>C	(Likely) benign	1 lab	df753cbf94
4:88986959 PKD2 C>T	4	88986959	88986959	C	T	PKD2	c.2286C>T	NM_000297.4	NP_000288.1:p.(Tyr762=)	NC_000004.11:g.88986959C>T	(Likely) benign	1 lab	dd6d64acc2
2:71801436 DYSF C>T	2	71801436	71801436	C	T	DYSF	c.3334C>T	NM_001130981.2	NP_001124453.1:p.(Arg1112Cys)	NC_000002.11:g.71801436C>T	(Likely) benign	1 lab	dd6e0533ef
17:78163668 CARD14 G>A	17	78163668	78163668	G	A	CARD14	c.960G>A	NM_024110.4	NP_077015.2:p.(Glu320=)	NC_000017.10:g.78163668G>A	(Likely) benign	1 lab	dd7260049f
16:3304460 MEFV A>G	16	3304460	3304460	A	G	MEFV	c.608T>C	NM_000243.2	NP_000234.1:p.(Leu203Pro)	NC_000016.9:g.3304460A>G	VUS	1 lab	dd726c0bdd
14:37131296 PAX9 T>A	14	37131296	37131296	T	A	PAX9	c.2T>A	NM_006194.3	NP_006185.1:p.(Met1?)	NC_000014.8:g.37131296T>A	(Likely) pathogenic	1 lab	dd72fd4835
6:32021276 TNXB C>T	6	32021276	32021276	C	T	TNXB	c.8674G>A	NM_019105.8	NP_061978.6:p.(Glu2892Lys)	NC_000006.11:g.32021276C>T	(Likely) benign	1 lab	dd7794bf9a
2:167137175 SCN9A G>A	2	167137175	167137175	G	A	SCN9A	c.2072-70C>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167137175G>A	(Likely) benign	1 lab	dd7a4f2bd8
1:228550344 OBSCN G>A	1	228550344	228550344	G	A	OBSCN	c.21600G>A	NM_001271223.2	NP_001258152.2:p.(Ala7200=)	NC_000001.10:g.228550344G>A	(Likely) benign	1 lab	dd7c3169c7
3:11076210 SLC6A1 T>A	3	11076210	11076210	T	A	SLC6A1	c.1528-7T>A	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11076210T>A	VUS	1 lab	dd7edf039d
X:15343401 PIGA C>CAA	X	15343401	15343403	C	CAA	PIGA	c.849-129_849-128dup	NM_002641.3	NP_002632.1:p.?	NC_000023.10:g.15343402_15343403dup	(Likely) benign	1 lab	dd8030ba03
2:220342126 SPEG C>T	2	220342126	220342126	C	T	SPEG	c.4688C>T	NM_005876.5	NP_005867.3:p.(Ala1563Val)	NC_000002.11:g.220342126C>T	(Likely) benign	1 lab	dd80cdbf0e
6:157527850 ARID1B C>T	6	157527850	157527850	C	T	ARID1B	c.5824C>T	NM_001371656.1	NP_001358585.1:p.(Gln1942Ter)	NC_000006.11:g.157527850C>T	(Likely) pathogenic	1 lab	dd811d0d7c
15:68506684 CLN6 C>A	15	68506684	68506684	C	A	CLN6	c.241G>T	NM_017882.3	NP_060352.1:p.(Val81Phe)	NC_000015.9:g.68506684C>A	VUS	1 lab	dd8322c2cd
9:73479441 TRPM3 C>CA	9	73479441	73479457	C	CA	TRPM3	c.178-15dup	NM_001366147.2	NP_001353076.1:p.?	NC_000009.11:g.73479457dup	(Likely) benign	1 lab	dd85126d6d
11:17482118 ABCC8 C>T	11	17482118	17482118	C	T	ABCC8	c.928G>A	NM_001287174.2	NP_001274103.1:p.(Asp310Asn)	NC_000011.9:g.17482118C>T	(Likely) pathogenic	1 lab	dd879cb081
2:122288535 RNU4ATAC C>T	2	122288535	122288535	C	T	RNU4ATAC	n.80C>T	NR_023343.1		NC_000002.11:g.122288535C>T	VUS	1 lab	da95e38e77
5:161569380 GABRG2 T>G	5	161569380	161569380	T	G	GABRG2				NC_000005.9:g.161569380T>G	(Likely) benign	1 lab	dd906e2345
18:19080082 GREB1L G>A	18	19080082	19080082	G	A	GREB1L	c.3784G>A	NM_001142966.2	NP_001136438.1:p.(Val1262Met)	NC_000018.9:g.19080082G>A	VUS	1 lab	dd91fda138
20:62044825 KCNQ2 G>A	20	62044825	62044825	G	A	KCNQ2	c.1741C>T	NM_172107.4	NP_742105.1:p.(Arg581Ter)	NC_000020.10:g.62044825G>A	(Likely) pathogenic	1 lab	dd93bc5ffd
15:29561442 NSMCE3 G>A	15	29561442	29561442	G	A	NSMCE3	c.468C>T	NM_138704.4	NP_619649.1:p.(Asn156=)	NC_000015.9:g.29561442G>A	(Likely) benign	1 lab	dd96c2ec68
9:109691716 ZNF462 C>G	9	109691716	109691716	C	G	ZNF462	c.5523C>G	NM_021224.6	NP_067047.4:p.(Ile1841Met)	NC_000009.11:g.109691716C>G	(Likely) benign	1 lab	da9d549b9c
16:85953791 IRF8 G>A	16	85953791	85953791	G	A	IRF8	c.1065G>A	NM_002163.2	NP_002154.1:p.(Pro355=)	NC_000016.9:g.85953791G>A	(Likely) benign	1 lab	ddca0f6eba
14:65249153 SPTB T>C	14	65249153	65249153	T	C	SPTB	c.4121A>G	NM_001024858.3	NP_001020029.1:p.(His1374Arg)	NC_000014.8:g.65249153T>C	(Likely) benign	1 lab	dd9d9b750c
16:56904570 SLC12A3 C>T	16	56904570	56904570	C	T	SLC12A3	c.774C>T	NM_000339.3	NP_000330.3:p.(Asn258=)	NC_000016.9:g.56904570C>T	(Likely) benign	1 lab	dd9dce22d7
8:48691554 PRKDC A>G	8	48691554	48691554	A	G	PRKDC	c.11579+11T>C	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48691554A>G	(Likely) benign	1 lab	dda14b9465
4:126241635 FAT4 A>T	4	126241635	126241635	A	T	FAT4				NC_000004.11:g.126241635A>T	(Likely) benign	1 lab	e823ddb408
4:39241892 WDR19 T>C	4	39241892	39241892	T	C	WDR19	c.2364-5T>C	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39241892T>C	(Likely) benign	1 lab	dda866b797
19:1005533 GRIN3B C>T	19	1005533	1005533	C	T	GRIN3B	c.2033C>T	NM_138690.3	NP_619635.1:p.(Ser678Leu)	NC_000019.9:g.1005533C>T	VUS	1 lab	daa038df70
22:32240924 DEPDC5 A>G	22	32240924	32240924	A	G	DEPDC5	c.2802-80A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32240924A>G	(Likely) benign	1 lab	ddaf9a8f7d
12:88465242 CEP290 T>C	12	88465242	88465242	T	C	CEP290	c.5856-16A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88465242T>C	(Likely) benign	1 lab	de1475e14c
2:191851639 STAT1 T>C	2	191851639	191851639	T	C	STAT1	c.1162A>G	NM_007315.3	NP_009330.1:p.(Lys388Glu)	NC_000002.11:g.191851639T>C	(Likely) pathogenic	1 lab	ddb7d7bc35
11:792188 SLC25A22 G>A	11	792188	792188	G	A	SLC25A22	c.772C>T	NM_001191060.1	NP_001177989.1:p.(Arg258Ter)	NC_000011.9:g.792188G>A	(Likely) benign	1 lab	ddb816c9cf
13:39431945 FREM2 T>C	13	39431945	39431945	T	C	FREM2	c.7057-67T>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39431945T>C	(Likely) benign	1 lab	ddba8c901a
16:81971461 PLCG2 A>T	16	81971461	81971461	A	T	PLCG2	c.3151A>T	NM_002661.3	NP_002652.2:p.(Met1051Leu)	NC_000016.9:g.81971461A>T	(Likely) benign	1 lab	ddbb4709a8
2:189854144 COL3A1 C>T	2	189854144	189854144	C	T	COL3A1	c.659C>T	NM_000090.3	NP_000081.1:p.(Ala220Val)	NC_000002.11:g.189854144C>T	(Likely) benign	1 lab	ddbbef5a95
18:2920631 LPIN2 A>G	18	2920631	2920631	A	G	LPIN2	c.2546+145T>C	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2920631A>G	(Likely) benign	1 lab	ddbdcaca1c
X:154157276 F8 C>A	X	154157276	154157276	C	A	F8	c.4789G>T	NM_000132.3	NP_000123.1:p.(Glu1597Ter)	NC_000023.10:g.154157276C>A	(Likely) pathogenic	1 lab	ddc280edba
6:7581419 DSP C>T	6	7581419	7581419	C	T	DSP	c.4996C>T	NM_004415.2	NP_004406.2:p.(Arg1666Trp)	NC_000006.11:g.7581419C>T	(Likely) benign	1 lab	ddc39815ed
3:53215478 PRKCD G>A	3	53215478	53215478	G	A	PRKCD	c.395G>A	NM_006254.4	NP_006245.2:p.(Arg132His)	NC_000003.11:g.53215478G>A	(Likely) benign	1 lab	ddc480b31f
19:13356074 CACNA1A A>G	19	13356074	13356074	A	G	CACNA1A	c.4884T>C	NM_023035.3	NP_075461.2:p.(Tyr1628=)	NC_000019.9:g.13356074A>G	(Likely) benign	1 lab	ddc4d397f6
19:7117184 INSR A>G	19	7117184	7117184	A	G	INSR	c.4032T>C	NM_000208.4	NP_000199.2:p.(Asp1344=)	NC_000019.9:g.7117184A>G	(Likely) benign	1 lab	ddc83a2ad8
2:71827854 DYSF G>A	2	71827854	71827854	G	A	DYSF	c.3776G>A	NM_001130981.2	NP_001124453.1:p.(Arg1259His)	NC_000002.11:g.71827854G>A	(Likely) benign	1 lab	ddcd1df7f0
1:207930564 CD46 C>CT	1	207930564	207930574	C	CT	CD46	c.286+27dup	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207930574dup	(Likely) benign	1 lab	ddcda31de4
16:3306563 MEFV G>A	16	3306563	3306563	G	A	MEFV	c.25C>T	NM_000243.2	NP_000234.1:p.(Leu9=)	NC_000016.9:g.3306563G>A	(Likely) benign	1 lab	ddd25a62ad
2:128050417 ERCC3 G>A	2	128050417	128050417	G	A	ERCC3	c.240C>T	NM_000122.1	NP_000113.1:p.(Pro80=)	NC_000002.11:g.128050417G>A	(Likely) benign	1 lab	ddd2d8ca6d
22:32161216 DEPDC5 T>G	22	32161216	32161216	T	G	DEPDC5	c.279+170T>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32161216T>G	(Likely) benign	1 lab	ddd9d860dc
9:138606446 KCNT1 C>T	9	138606446	138606446	C	T	KCNT1	c.134C>T	NM_020822.2	NP_065873.2:p.(Ala45Val)	NC_000009.11:g.138606446C>T	(Likely) benign	1 lab	ddda3f661e
17:42334950 SLC4A1 T>C	17	42334950	42334950	T	C	SLC4A1	c.1432-38A>G	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42334950T>C	(Likely) benign	1 lab	dddbf96d87
5:14488380 TRIO C>CG	5	14488380	14488386	C	CG	TRIO	c.7632+17dup	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14488386dup	(Likely) benign	1 lab	ddde4ea5c9
15:48807681 FBN1 G>C	15	48807681	48807681	G	C	FBN1	c.1371C>G	NM_000138.4	NP_000129.3:p.(Arg457=)	NC_000015.9:g.48807681G>C	(Likely) benign	1 lab	dddefaef86
7:56084964 PSPH G>T	7	56084964	56084964	G	T	PSPH	c.384C>A	NM_004577.4	NP_004568.2:p.(Thr128=)	NC_000007.13:g.56084964G>T	VUS	1 lab	dddf00915e
14:65267469 SPTB T>C	14	65267469	65267469	T	C	SPTB	c.876+5A>G	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65267469T>C	(Likely) benign	1 lab	dde04438e5
X:135318390 MAP7D3 A>T	X	135318390	135318390	A	T	MAP7D3	c.736+13T>A	NM_024597.4	NP_078873.2:p.?	NC_000023.10:g.135318390A>T	(Likely) benign	1 lab	dde1db9416
5:92921165 NR2F1 T>C	5	92921165	92921165	T	C	NR2F1	c.436T>C	NM_005654.6	NP_005645.1:p.(Cys146Arg)	NC_000005.9:g.92921165T>C	(Likely) pathogenic	1 lab	ddf23cd703
1:5993237 NPHP4 CT>C	1	5993237	5993239	CT	C	NPHP4	c.1271del	NM_015102.5	NP_055917.1:p.(Lys424ArgfsTer7)	NC_000001.10:g.5993239del	(Likely) pathogenic	1 lab	ddf59432e1
20:6077561 FERMT1 C>T	20	6077561	6077561	C	T	FERMT1	c.1077G>A	NM_017671.5	NP_060141.3:p.(Ala359=)	NC_000020.10:g.6077561C>T	(Likely) benign	1 lab	ddf74b2394
18:47405304 MYO5B A>G	18	47405304	47405304	A	G	MYO5B	c.3276+11T>C	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47405304A>G	(Likely) benign	1 lab	ddf7efbf15
15:91557678 VPS33B G>GA	15	91557678	91557687	G	GA	VPS33B	c.240-16dup	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91557687dup	(Likely) benign	1 lab	ddfd28bc1f
8:27324891 CHRNA2 C>T	8	27324891	27324891	C	T	CHRNA2	c.340-36G>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27324891C>T	(Likely) benign	1 lab	ddfff450cd
1:151374029 PSMB4 C>T	1	151374029	151374029	C	T	PSMB4	c.705C>T	NM_002796.3	NP_002787.2:p.(Ala235=)	NC_000001.10:g.151374029C>T	(Likely) benign	1 lab	de00fbbe3f
8:145582839 SLC52A2 T>C	8	145582839	145582839	T	C	SLC52A2	c.-110-5T>C	NM_024531.5	NP_078807.1:p.?	NC_000008.10:g.145582839T>C	(Likely) benign	1 lab	de019fae73
16:89851245 FANCA G>A	16	89851245	89851245	G	A	FANCA	c.1470+17C>T	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89851245G>A	(Likely) benign	1 lab	de0343b21e
11:67258524 AIP G>C	11	67258524	67258524	G	C	AIP	c.*60G>C	NM_003977.2	NP_003968.2:p.?	NC_000011.9:g.67258524G>C	(Likely) benign	1 lab	de065f21e5
3:186302391 DNAJB11 A>AGTGT	3	186302391	186302411	A	AGTGT	DNAJB11	c.1012+30_1012+33dup	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302408_186302411dup	(Likely) benign	1 lab	de07fe36c2
18:28649066 DSC2 C>G	18	28649066	28649066	C	G	DSC2				NC_000018.9:g.28649066C>G	VUS	1 lab	ff18fa67bf
20:30640229 HCK TG>T	20	30640229	30640236	TG	T	HCK	c.9del	NM_002110.5	NP_002101.2:p.(Arg4AlafsTer22)	NC_000020.10:g.30640236del	VUS	1 lab	de0b699bdf
9:14863796 FREM1 G>A	9	14863796	14863796	G	A	FREM1	c.329+11C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14863796G>A	(Likely) benign	1 lab	de0edf7fe0
8:108334185 ANGPT1 C>T	8	108334185	108334185	C	T	ANGPT1	c.747G>A	NM_001146.5	NP_001137.2:p.(Lys249=)	NC_000008.10:g.108334185C>T	(Likely) benign	1 lab	de121728f5
X:32479520 DMD T>G	X	32479520	32479520	T	G	DMD	c.3063+2036A>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32479520T>G	(Likely) benign	1 lab	de126d4940
12:110028689 MVK G>C	12	110028689	110028689	G	C	MVK	c.768+23G>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110028689G>C	(Likely) benign	1 lab	de13189625
7:73935612 GTF2IRD1 G>A	7	73935612	73935612	G	A	GTF2IRD1	c.991G>A	NM_016328.3	NP_057412.1:p.(Val331Ile)	NC_000007.13:g.73935612G>A	VUS	1 lab	daa5b7d59d
1:40542655 PPT1 T>C	1	40542655	40542655	T	C	PPT1	c.727-70A>G	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40542655T>C	(Likely) benign	1 lab	de1ad247d5
11:6414833 SMPD1 A>G	11	6414833	6414833	A	G	SMPD1	c.343-14A>G	NM_001318088.2	NP_001305017.1:p.?	NC_000011.9:g.6414833A>G	(Likely) benign	1 lab	de262ff691
15:93480971 CHD2 C>A	15	93480971	93480971	C	A	CHD2	c.551+116C>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93480971C>A	(Likely) benign	1 lab	de29417988
17:54912411 DGKE C>T	17	54912411	54912411	C	T	DGKE	c.255C>T	NM_003647.3	NP_003638.1:p.(Ala85=)	NC_000017.10:g.54912411C>T	(Likely) benign	1 lab	de2a301bd6
5:39153562 FYB1 G>A	5	39153562	39153562	G	A	FYB1	c.1280C>T	NM_001465.6	NP_001456.3:p.(Pro427Leu)	NC_000005.9:g.39153562G>A	(Likely) benign	1 lab	de2a76c440
X:99662573 PCDH19 G>T	X	99662573	99662573	G	T	PCDH19	c.1023C>A	NM_001184880.2	NP_001171809.1:p.(Asp341Glu)	NC_000023.10:g.99662573G>T	(Likely) pathogenic	1 lab	de30b57907
16:81931397 PLCG2 G>A	16	81931397	81931397	G	A	PLCG2	c.1193+1865G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81931397G>A	(Likely) benign	1 lab	de31021055
9:103035114 INVS TA>T	9	103035114	103035124	TA	T	INVS	c.1572-22del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103035124del	(Likely) benign	1 lab	de32e7fb34
1:32745774 LCK G>A	1	32745774	32745774	G	A	LCK	c.1290G>A	NM_001042771.2	NP_001036236.1:p.(Leu430=)	NC_000001.10:g.32745774G>A	(Likely) benign	1 lab	de554adbf4
4:648643 PDE6B G>A	4	648643	648643	G	A	PDE6B	c.958G>A	NM_000283.4	NP_000274.3:p.(Val320Ile)	NC_000004.11:g.648643G>A	(Likely) benign	1 lab	daa760dc52
2:166894288 SCN1A C>G	2	166894288	166894288	C	G	SCN1A	c.2944G>C	NM_001165963.3	NP_001159435.1:p.(Val982Leu)	NC_000002.11:g.166894288C>G	(Likely) pathogenic	1 lab	de3b666cf9
17:73736171 ITGB4 G>A	17	73736171	73736171	G	A	ITGB4	c.2446+19G>A	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73736171G>A	(Likely) benign	1 lab	de3db42a8d
11:62397962 GANAB C>A	11	62397962	62397962	C	A	GANAB	c.1468G>T	NM_198335.4	NP_938149.2:p.(Asp490Tyr)	NC_000011.9:g.62397962C>A	VUS	1 lab	de3f81d9b3
5:151208548 GLRA1 G>A	5	151208548	151208548	G	A	GLRA1	c.993C>T	NM_000171.4	NP_000162.2:p.(Ala331=)	NC_000005.9:g.151208548G>A	(Likely) benign	1 lab	de45bd7531
22:32229674 DEPDC5 A>G	22	32229674	32229674	A	G	DEPDC5	c.2105-227A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32229674A>G	(Likely) benign	1 lab	de4ba18138
1:6029086 NPHP4 CAA>C	1	6029086	6029101	CAA	C	NPHP4	c.452+59_452+60del	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6029100_6029101del	(Likely) benign	1 lab	de4e026c75
20:62044810 KCNQ2 G>A	20	62044810	62044810	G	A	KCNQ2	c.1756C>T	NM_172107.4	NP_742105.1:p.(Gln586Ter)	NC_000020.10:g.62044810G>A	(Likely) pathogenic	1 lab	de50b1f79a
1:29435974 EPB41 T>G	1	29435974	29435974	T	G	EPB41	c.1588-2906T>G	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29435974T>G	(Likely) benign	1 lab	de5196824a
3:121547402 IQCB1 G>A	3	121547402	121547402	G	A	IQCB1	c.178C>T	NM_001023570.4	NP_001018864.2:p.(Gln60Ter)	NC_000003.11:g.121547402G>A	(Likely) pathogenic	1 lab	de53ed3516
14:64587784 SYNE2 T>G	14	64587784	64587784	T	G	SYNE2	c.13158+5T>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64587784T>G	(Likely) benign	1 lab	de572c6b22
10:104590756 CYP17A1 G>GTGGC	10	104590756	104590760	G	GTGGC	CYP17A1	c.1244-18_1244-15dup	NM_000102.4	NP_000093.1:p.?	NC_000010.10:g.104590757_104590760dup	(Likely) benign	1 lab	de575838f3
17:60088416 MED13 T>C	17	60088416	60088416	T	C	MED13	c.1462A>G	NM_005121.3	NP_005112.2:p.(Met488Val)	NC_000017.10:g.60088416T>C	VUS	1 lab	daac712ce1
5:90015969 ADGRV1 T>A	5	90015969	90015969	T	A	ADGRV1	c.9552T>A	NM_032119.4	NP_115495.3:p.(Val3184=)	NC_000005.9:g.90015969T>A	(Likely) benign	1 lab	de58ab63e1
11:1269758 MUC5B C>T	11	1269758	1269758	C	T	MUC5B	c.11648C>T	NM_002458.3	NP_002449.2:p.(Thr3883Met)	NC_000011.9:g.1269758C>T	(Likely) benign	1 lab	dab1347c4d
8:68536329 CPA6 C>T	8	68536329	68536329	C	T	CPA6	c.192+82G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68536329C>T	(Likely) benign	1 lab	de62c15496
16:75298301 BCAR1 C>A	16	75298301	75298301	C	A	BCAR1	c.98G>T	NM_001170714.3	NP_001164185.1:p.(Cys33Phe)	NC_000016.9:g.75298301C>A	(Likely) benign	1 lab	de65a8956d
8:68658523 CPA6 GA>G	8	68658523	68658532	GA	G	CPA6	c.-160del	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68658532del	(Likely) benign	1 lab	de675d1ab1
11:36595043 RAG1 A>G	11	36595043	36595043	A	G	RAG1	c.189A>G	NM_000448.2	NP_000439.1:p.(Pro63=)	NC_000011.9:g.36595043A>G	(Likely) benign	1 lab	de68d8e921
16:2167549 PKD1 G>A	16	2167549	2167549	G	A	PKD1	c.1326C>T	NM_001009944.2	NP_001009944.2:p.(Ala442=)	NC_000016.9:g.2167549G>A	(Likely) benign	1 lab	de72f1a94c
16:227377 HBA1 T>C	16	227377	227377	T	C	HBA1	c.396T>C	NM_000558.5	NP_000549.1:p.(Ser132=)	NC_000016.9:g.227377T>C	(Likely) benign	1 lab	de7fab9ab7
7:6017277 PMS2 A>C	7	6017277	6017277	A	C	PMS2	c.2387T>G	NM_000535.5	NP_000526.1:p.(Val796Gly)	NC_000007.13:g.6017277A>C	VUS	1 lab	de800e28ba
18:28588433 DSC3 G>A	18	28588433	28588433	G	A	DSC3	c.1322C>T	NM_024423.4	NP_077741.2:p.(Ala441Val)	NC_000018.9:g.28588433G>A	VUS	1 lab	dab197e51f
5:90051084 ADGRV1 A>ATCT	5	90051084	90051088	A	ATCT	ADGRV1	c.11580+84_11580+86dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90051086_90051088dup	(Likely) benign	1 lab	de83a4c57a
20:390425 RBCK1 AAG>A	20	390425	390427	AAG	A	RBCK1	c.23-99_23-98del	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.390426_390427del	(Likely) benign	1 lab	de8d4ea3d3
10:101610475 ABCC2 C>T	10	101610475	101610475	C	T	ABCC2	c.4430C>T	NM_000392.5	NP_000383.2:p.(Thr1477Met)	NC_000010.10:g.101610475C>T	(Likely) benign	1 lab	de91f03300
17:44962458 WNT9B G>A	17	44962458	44962458	G	A	WNT9B	c.963G>A	NM_001320458.2	NP_001307387.1:p.(Ala321=)	NC_000017.10:g.44962458G>A	(Likely) benign	1 lab	de98718968
5:90261208 ADGRV1 A>T	5	90261208	90261208	A	T	ADGRV1	c.17857-24A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90261208A>T	(Likely) benign	1 lab	de9c630ed4
X:154133121 F8 A>G	X	154133121	154133121	A	G	F8	c.5551T>C	NM_000132.3	NP_000123.1:p.(Cys1851Arg)	NC_000023.10:g.154133121A>G	VUS	1 lab	de9cfc2bbf
X:79278546 TBX22 C>A	X	79278546	79278546	C	A	TBX22	c.176-13C>A	NM_001109878.2	NP_001103348.1:p.?	NC_000023.10:g.79278546C>A	(Likely) benign	1 lab	dea15d768c
19:36339810 NPHS1 T>C	19	36339810	36339810	T	C	NPHS1	c.1012+68A>G	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36339810T>C	(Likely) benign	1 lab	dea85ef06d
15:93552349 CHD2 G>A	15	93552349	93552349	G	A	CHD2	c.4414-26G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93552349G>A	(Likely) benign	1 lab	dea99ee1ff
12:110226796 TRPV4 A>G	12	110226796	110226796	A	G	TRPV4	c.1892-275T>C	NM_021625.4	NP_067638.3:p.?	NC_000012.11:g.110226796A>G	(Likely) benign	1 lab	deb6c4bcef
19:12989625 DNASE2 C>A	19	12989625	12989625	C	A	DNASE2	c.370G>T	NM_001375.3	NP_001366.1:p.(Gly124Trp)	NC_000019.9:g.12989625C>A	(Likely) benign	1 lab	deb91fde96
7:2987249 CARD11 C>A	7	2987249	2987249	C	A	CARD11	c.180G>T	NM_032415.6	NP_115791.3:p.(Val60=)	NC_000007.13:g.2987249C>A	(Likely) benign	1 lab	debd5a327e
12:7053037 RNU7-1 C>T	12	7053037	7053037	C	T	RNU7-1	n.59C>T	NR_023317.1		NC_000012.11:g.7053037C>T	VUS	1 lab	dab8505641
19:10476415 TYK2 G>A	19	10476415	10476415	G	A	TYK2	c.789C>T	NM_003331.4	NP_003322.3:p.(Leu263=)	NC_000019.9:g.10476415G>A	(Likely) benign	1 lab	decab4c4a9
7:299863 MISSING C>T	7	299863	299863	C	T	MISSING				NC_000007.13:g.299863C>T	(Likely) benign	1 lab	decad0d48b
4:983815 SLC26A1 G>A	4	983815	983815	G	A	SLC26A1	c.912C>T	NM_213613.4	NP_998778.1:p.(Leu304=)	NC_000004.11:g.983815G>A	(Likely) benign	1 lab	decca3b8c6
1:51439777 CDKN2C C>T	1	51439777	51439777	C	T	CDKN2C	c.342C>T	NM_078626.3	NP_523240.1:p.(Gly114=)	NC_000001.10:g.51439777C>T	(Likely) benign	1 lab	ded314f57a
19:18193019 IL12RB1 G>A	19	18193019	18193019	G	A	IL12RB1	c.300C>T	NM_001290024.1	NP_001276953.1:p.(Tyr100=)	NC_000019.9:g.18193019G>A	(Likely) benign	1 lab	dedb8d2815
17:4837117 GP1BA AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC>A	17	4837117	4837170	AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCC	A	GP1BA	c.1233_1271del	NM_000173.7	NP_000164.5:p.(Ser441_Thr453del)	NC_000017.10:g.4837132_4837170del	(Likely) benign	1 lab	dedcb60e09
2:152728605 CACNB4 T>A	2	152728605	152728605	T	A	CACNB4	c.496+326A>T	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152728605T>A	(Likely) benign	1 lab	dee2e1c6ef
16:2160898 PKD1 T>C	16	2160898	2160898	T	C	PKD1	c.4270A>G	NM_001009944.2	NP_001009944.2:p.(Thr1424Ala)	NC_000016.9:g.2160898T>C	(Likely) benign	1 lab	dee73a5fe9
20:62103966 KCNQ2 G>T	20	62103966	62103966	G	T	KCNQ2	c.-150C>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62103966G>T	(Likely) benign	1 lab	dee81e8c1c
6:161143441 PLG A>T	6	161143441	161143441	A	T	PLG	c.1098A>T	NM_000301.3	NP_000292.1:p.(Ala366=)	NC_000006.11:g.161143441A>T	(Likely) benign	1 lab	dee9af6386
2:166850751 SCN1A C>T	2	166850751	166850751	C	T	SCN1A	c.4757G>A	NM_001165963.3	NP_001159435.1:p.(Gly1586Glu)	NC_000002.11:g.166850751C>T	(Likely) pathogenic	1 lab	deeb0a57a0
2:202093798 CASP10 G>A	2	202093798	202093798	G	A	CASP10	c.1558G>A	NM_032974.5	NP_116756.2:p.(Val520Ile)	NC_000002.11:g.202093798G>A	(Likely) benign	1 lab	deec5dee85
14:103396907 AMN CCGCAGCCCCTGCCGCGG>C	14	103396907	103396926	CCGCAGCCCCTGCCGCGG	C	AMN	c.1258-3_1271del	NM_030943.4	NP_112205.2:p.?	NC_000014.8:g.103396910_103396926del	(Likely) pathogenic	1 lab	deef2a771e
9:141006875 CACNA1B C>T	9	141006875	141006875	C	T	CACNA1B	c.5454C>T	NM_000718.4	NP_000709.1:p.(Asp1818=)	NC_000009.11:g.141006875C>T	(Likely) benign	1 lab	dac1670e16
16:9943736 GRIN2A TC>T	16	9943736	9943738	TC	T	GRIN2A	c.1204del	NM_000833.5	NP_000824.1:p.(Asp402MetfsTer21)	NC_000016.9:g.9943738del	(Likely) pathogenic	1 lab	dac2e6405b
19:35530236 SCN1B C>T	19	35530236	35530236	C	T	SCN1B	c.590+74C>T	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530236C>T	(Likely) benign	1 lab	def6e3fed0
1:158582543 SPTA1 G>A	1	158582543	158582543	G	A	SPTA1	c.7134+64C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158582543G>A	(Likely) benign	1 lab	def7f69809
9:37424857 GRHPR GT>G	9	37424857	37424858	GT	G	GRHPR	c.100del	NM_012203.2	NP_036335.1:p.(Trp34GlyfsTer12)	NC_000009.11:g.37424858del	(Likely) pathogenic	1 lab	def8458b04
12:54925081 NCKAP1L C>A	12	54925081	54925081	C	A	NCKAP1L	c.2544C>A	NM_005337.5	NP_005328.2:p.(Gly848=)	NC_000012.11:g.54925081C>A	(Likely) benign	1 lab	def8d94b38
7:148080759 CNTNAP2 A>G	7	148080759	148080759	A	G	CNTNAP2	c.3494A>G	NM_014141.6	NP_054860.1:p.(Gln1165Arg)	NC_000007.13:g.148080759A>G	(Likely) benign	1 lab	defc4375da
3:10107190 FANCD2 A>G	3	10107190	10107190	A	G	FANCD2	c.2269+12A>G	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10107190A>G	(Likely) benign	1 lab	defdae6402
18:52921626 TCF4 T>A	18	52921626	52921626	T	A	TCF4	c.1350+102A>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52921626T>A	(Likely) benign	1 lab	df0427fc83
1:181702721 CACNA1E G>T	1	181702721	181702721	G	T	CACNA1E	c.3097G>T	NM_000721.4	NP_000712.2:p.(Ala1033Ser)	NC_000001.10:g.181702721G>T	VUS	1 lab	dac2f31e26
12:66849926 GRIP1 A>G	12	66849926	66849926	A	G	GRIP1	c.1043-582T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849926A>G	(Likely) benign	1 lab	df06866f02
16:50745610 NOD2 G>A	16	50745610	50745610	G	A	NOD2	c.1788G>A	NM_022162.1	NP_071445.1:p.(Thr596=)	NC_000016.9:g.50745610G>A	(Likely) benign	1 lab	df074f9230
4:151773512 LRBA C>A	4	151773512	151773512	C	A	LRBA	c.3350G>T	NM_006726.4	NP_006717.2:p.(Gly1117Val)	NC_000004.11:g.151773512C>A	(Likely) benign	1 lab	df09cfdf4a
1:43890441 SZT2 T>A	1	43890441	43890441	T	A	SZT2	c.2472-14T>A	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43890441T>A	(Likely) benign	1 lab	df127a4884
12:12939824 APOLD1 CGTG>C	12	12939824	12939827	CGTG	C	APOLD1	c.4-18_4-16del	NM_030817.3	NP_110444.3:p.?	NC_000012.11:g.12939825_12939827del	(Likely) benign	1 lab	df1c06d02a
21:34927507 SON T>C	21	34927507	34927507	T	C	SON	c.5970T>C	NM_138927.2	NP_620305.2:p.(Arg1990=)	NC_000021.8:g.34927507T>C	(Likely) benign	1 lab	df276fe778
9:14756271 FREM1 A>G	9	14756271	14756271	A	G	FREM1	c.5407+101T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14756271A>G	(Likely) benign	1 lab	df2864051c
19:2121296 AP3D1 G>A	19	2121296	2121296	G	A	AP3D1	c.1116C>T	NM_001261826.3	NP_001248755.1:p.(Asn372=)	NC_000019.9:g.2121296G>A	(Likely) benign	1 lab	df2b339ff8
X:154156922 F8 G>A	X	154156922	154156922	G	A	F8	c.5143C>T	NM_000132.3	NP_000123.1:p.(Arg1715Ter)	NC_000023.10:g.154156922G>A	(Likely) pathogenic	1 lab	df2c1b3bcf
22:32239156 DEPDC5 C>T	22	32239156	32239156	C	T	DEPDC5	c.2591C>T	NM_001242896.3	NP_001229825.1:p.(Thr864Met)	NC_000022.10:g.32239156C>T	(Likely) pathogenic	1 lab	df2f279776
16:89597057 SPG7 G>T	16	89597057	89597057	G	T	SPG7	c.862-34G>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89597057G>T	(Likely) benign	1 lab	df30ae467e
10:100380410 HPSE2 G>A	10	100380410	100380410	G	A	HPSE2	c.1154C>T	NM_021828.4	NP_068600.4:p.(Thr385Ile)	NC_000010.10:g.100380410G>A	(Likely) benign	1 lab	df35396177
1:154569592 ADAR G>A	1	154569592	154569592	G	A	ADAR	c.1194+7C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154569592G>A	(Likely) benign	1 lab	df36fc6e6f
1:241675290 FH T>G	1	241675290	241675290	T	G	FH	c.532A>C	NM_000143.4	NP_000134.2:p.(Asn178His)	NC_000001.10:g.241675290T>G	VUS	1 lab	dac55d4e75
2:179403923 TTN A>G	2	179403923	179403923	A	G	TTN	c.71919T>C	NM_133432.3	NP_597676.3:p.(Ser23973=)	NC_000002.11:g.179403923A>G	(Likely) benign	1 lab	df42c96b72
13:96529951 UGGT2 C>T	13	96529951	96529951	C	T	UGGT2	c.3387+1G>A	NM_020121.4	NP_064506.3:p.?	NC_000013.10:g.96529951C>T	VUS	1 lab	dac8e73e19
2:216274441 FN1 G>A	2	216274441	216274441	G	A	FN1	c.2144C>T	NM_212482.2	NP_997647.1:p.(Thr715Met)	NC_000002.11:g.216274441G>A	(Likely) benign	1 lab	df461c3669
7:6035275 PMS2 T>C	7	6035275	6035275	T	C	PMS2	c.804-11A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6035275T>C	VUS	1 lab	df47a7964c
16:31008377 STX1B A>T	16	31008377	31008377	A	T	STX1B	c.358T>A	NM_052874.4	NP_443106.1:p.(Ser120Thr)	NC_000016.9:g.31008377A>T	VUS	1 lab	df4d7fc114
2:167133479 SCN9A AT>A	2	167133479	167133480	AT	A	SCN9A	c.2874+13del	NM_001365536.1	NP_001352465.1:p.?	NC_000002.11:g.167133480del	(Likely) benign	1 lab	df50b74ea5
8:61769048 CHD7 G>A	8	61769048	61769048	G	A	CHD7				NC_000008.10:g.61769048G>A	(Likely) benign	1 lab	12feacbc96
20:30421599 MYLK2 G>A	20	30421599	30421599	G	A	MYLK2	c.1790G>A	NM_033118.3	NP_149109.1:p.(Ter597=)	NC_000020.10:g.30421599G>A	(Likely) benign	1 lab	df59637bbf
20:61981179 CHRNA4 C>T	20	61981179	61981179	C	T	CHRNA4	c.1584G>A	NM_000744.6	NP_000735.1:p.(Pro528=)	NC_000020.10:g.61981179C>T	(Likely) benign	1 lab	df5c62aefe
6:112508789 LAMA4 C>T	6	112508789	112508789	C	T	LAMA4	c.829G>A	NM_001105206.3	NP_001098676.2:p.(Val277Ile)	NC_000006.11:g.112508789C>T	(Likely) benign	1 lab	df5d8f5247
X:149638920 MAMLD1 C>T	X	149638920	149638920	C	T	MAMLD1	c.1075C>T	NM_005491.4	NP_005482.2:p.(Pro359Ser)	NC_000023.10:g.149638920C>T	(Likely) benign	1 lab	df60813a9f
16:2139824 PKD1 G>A	16	2139824	2139824	G	A	PKD1	c.12816C>T	NM_001009944.2	NP_001009944.2:p.(Ser4272=)	NC_000016.9:g.2139824G>A	(Likely) benign	1 lab	df619a9bda
2:179478949 TTN G>T	2	179478949	179478949	G	T	TTN	c.22355C>A	NM_133432.3	NP_597676.3:p.(Ala7452Glu)	NC_000002.11:g.179478949G>T	VUS	1 lab	df61f0a0e3
12:2702364 CACNA1C C>T	12	2702364	2702364	C	T	CACNA1C	c.2531-15C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2702364C>T	(Likely) benign	1 lab	dacbc827a7
6:33409006 SYNGAP1 G>A	6	33409006	33409006	G	A	SYNGAP1	c.1970G>A	NM_006772.3	NP_006763.2:p.(Trp657Ter)	NC_000006.11:g.33409006G>A	(Likely) pathogenic	1 lab	df6d166501
1:247582063 NLRP3 G>T	1	247582063	247582063	G	T	NLRP3	c.-40G>T	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247582063G>T	(Likely) benign	1 lab	df6f84fcc3
6:32053748 TNXB C>T	6	32053748	32053748	C	T	TNXB	c.2927G>A	NM_019105.8	NP_061978.6:p.(Arg976His)	NC_000006.11:g.32053748C>T	(Likely) benign	1 lab	df73016d9e
7:26411636 SNX10 A>C	7	26411636	26411636	A	C	SNX10	c.507A>C	NM_001199835.1	NP_001186764.1:p.(Ile169=)	NC_000007.13:g.26411636A>C	(Likely) benign	1 lab	df76237bc8
17:12916606 ELAC2 A>G	17	12916606	12916606	A	G	ELAC2	c.491-14T>C	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12916606A>G	(Likely) benign	1 lab	daccd18a12
13:39420726 FREM2 C>T	13	39420726	39420726	C	T	FREM2	c.6036C>T	NM_207361.6	NP_997244.4:p.(Phe2012=)	NC_000013.10:g.39420726C>T	(Likely) benign	1 lab	df8224e1a3
X:70341017 MED12 A>G	X	70341017	70341017	A	G	MED12	c.735+15A>G	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70341017A>G	(Likely) benign	1 lab	df881d7e03
12:52309892 ACVRL1 G>A	12	52309892	52309892	G	A	ACVRL1	c.1121G>A	NM_000020.2	NP_000011.2:p.(Arg374Gln)	NC_000012.11:g.52309892G>A	(Likely) pathogenic	1 lab	df89467082
2:166164319 SCN2A T>G	2	166164319	166164319	T	G	SCN2A	c.387-39T>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166164319T>G	(Likely) benign	1 lab	df89e32f85
14:103396086 AMN G>A	14	103396086	103396086	G	A	AMN	c.843+12G>A	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103396086G>A	(Likely) benign	1 lab	df8bf5c611
9:103055321 INVS C>T	9	103055321	103055321	C	T	INVS	c.2782C>T	NM_014425.5	NP_055240.2:p.(Arg928Ter)	NC_000009.11:g.103055321C>T	(Likely) pathogenic	1 lab	df9006e514
6:90718594 BACH2 C>G	6	90718594	90718594	C	G	BACH2	c.-12-19G>C	NM_021813.4	NP_068585.1:p.?	NC_000006.11:g.90718594C>G	(Likely) benign	1 lab	df926e4df3
17:48151296 ITGA3 T>C	17	48151296	48151296	T	C	ITGA3	c.1173T>C	NM_002204.4	NP_002195.1:p.(Ala391=)	NC_000017.10:g.48151296T>C	(Likely) benign	1 lab	df927e5d43
18:6985270 LAMA1 C>T	18	6985270	6985270	C	T	LAMA1	c.5626G>A	NM_005559.4	NP_005550.2:p.(Ala1876Thr)	NC_000018.9:g.6985270C>T	(Likely) benign	1 lab	dacd6ef940
16:3304735 MEFV C>T	16	3304735	3304735	C	T	MEFV	c.333G>A	NM_000243.2	NP_000234.1:p.(Gly111=)	NC_000016.9:g.3304735C>T	(Likely) benign	1 lab	df94c2f8bd
12:133242022 POLE C>T	12	133242022	133242022	C	T	POLE	c.2334G>A	NM_006231.3	NP_006222.2:p.(Lys778=)	NC_000012.11:g.133242022C>T	(Likely) benign	1 lab	df95310e66
20:61980989 CHRNA4 C>T	20	61980989	61980989	C	T	CHRNA4	c.1758+16G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61980989C>T	(Likely) benign	1 lab	df97c1cb7e
7:150655198 KCNH2 C>A	7	150655198	150655198	C	A	KCNH2	c.865G>T	NM_000238.3	NP_000229.1:p.(Glu289Ter)	NC_000007.13:g.150655198C>A	(Likely) pathogenic	1 lab	df9813f2b7
6:39832264 DAAM2 G>A	6	39832264	39832264	G	A	DAAM2	c.314G>A	NM_001201427.2	NP_001188356.1:p.(Arg105His)	NC_000006.11:g.39832264G>A	(Likely) benign	1 lab	df98ba51ef
6:32813576 TAP1 T>G	6	32813576	32813576	T	G	TAP1	c.2221-14A>C	NM_000593.5	NP_000584.2:p.?	NC_000006.11:g.32813576T>G	(Likely) benign	1 lab	df98f32ab9
13:39266135 FREM2 A>C	13	39266135	39266135	A	C	FREM2	c.4654A>C	NM_207361.6	NP_997244.4:p.(Thr1552Pro)	NC_000013.10:g.39266135A>C	(Likely) pathogenic	1 lab	df9cc28b8b
17:76989895 CANT1 T>A	17	76989895	76989895	T	A	CANT1	c.943A>T	NM_138793.4	NP_620148.1:p.(Lys315Ter)	NC_000017.10:g.76989895T>A	(Likely) pathogenic	1 lab	df9d0c33c3
10:88458996 LDB3 TTCTC>T	10	88458996	88459025	TTCTC	T	LDB3	c.896+6694_896+6697del	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88459022_88459025del	(Likely) benign	1 lab	dfa12a5b7b
9:137630584 COL5A1 A>G	9	137630584	137630584	A	G	COL5A1	c.1432-8A>G	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137630584A>G	(Likely) benign	1 lab	dfa2af8950
1:85733588 BCL10 T>C	1	85733588	85733588	T	C	BCL10	c.424A>G	NM_003921.5	NP_003912.1:p.(Asn142Asp)	NC_000001.10:g.85733588T>C	(Likely) benign	1 lab	dfa6c9f5a8
11:64572589 MEN1 A>G	11	64572589	64572589	A	G	MEN1	c.1267T>C	NM_130799.2	NP_570711.1:p.(Trp423Arg)	NC_000011.9:g.64572589A>G	(Likely) pathogenic	1 lab	dfa91ebc0e
3:132394218 UBA5 G>A	3	132394218	132394218	G	A	UBA5				NC_000003.11:g.132394218G>A	(Likely) benign	1 lab	e028379c65
7:158715061 DYNC2I1 TC>T	7	158715061	158715064	TC	T	DYNC2I1	c.1922-4del	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158715064del	(Likely) benign	1 lab	dfaac998cb
19:50335409 MED25 C>T	19	50335409	50335409	C	T	MED25	c.1369C>T	NM_030973.3	NP_112235.2:p.(Leu457=)	NC_000019.9:g.50335409C>T	(Likely) benign	1 lab	dfab1805b5
2:47639551 MSH2 A>G	2	47639551	47639551	A	G	MSH2	c.646-2A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47639551A>G	(Likely) pathogenic	1 lab	dace5e5c5e
12:66773022 GRIP1 GT>G	12	66773022	66773023	GT	G	GRIP1	c.2621+37del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66773023del	(Likely) benign	1 lab	dfb802ec0b
17:26733089 MISSING G>A	17	26733089	26733089	G	A	MISSING				NC_000017.10:g.26733089G>A	(Likely) benign	1 lab	dfbd7b05f7
2:175440078 WIPF1 C>T	2	175440078	175440078	C	T	WIPF1	c.212G>A	NM_001077269.1	NP_001070737.1:p.(Gly71Asp)	NC_000002.11:g.175440078C>T	(Likely) benign	1 lab	dfbf55e2f1
15:26806254 GABRB3 T>C	15	26806254	26806254	T	C	GABRB3	c.905A>G	NM_000814.6	NP_000805.1:p.(Tyr302Cys)	NC_000015.9:g.26806254T>C	(Likely) pathogenic	1 lab	dfc056ed34
9:138683905 KCNT1 C>T	9	138683905	138683905	C	T	KCNT1	c.3606C>T	NM_020822.2	NP_065873.2:p.(Asp1202=)	NC_000009.11:g.138683905C>T	(Likely) benign	1 lab	dfc0cf0051
9:730199 KANK1 G>A	9	730199	730199	G	A	KANK1	c.2847G>A	NM_015158.4	NP_055973.2:p.(Thr949=)	NC_000009.11:g.730199G>A	(Likely) benign	1 lab	e1a5783c84
1:237969447 RYR2 A>C	1	237969447	237969447	A	C	RYR2	c.14162A>C	NM_001035.3	NP_001026.2:p.(Tyr4721Ser)	NC_000001.10:g.237969447A>C	(Likely) pathogenic	1 lab	dfc1fc65d0
12:52306957 ACVRL1 T>G	12	52306957	52306957	T	G	ACVRL1	c.136T>G	NM_000020.2	NP_000011.2:p.(Cys46Gly)	NC_000012.11:g.52306957T>G	VUS	1 lab	dfc426d4ba
9:131367622 SPTAN1 C>T	9	131367622	131367622	C	T	SPTAN1	c.3912C>T	NM_001130438.2	NP_001123910.1:p.(Pro1304=)	NC_000009.11:g.131367622C>T	(Likely) benign	1 lab	dfc96e8026
5:39202038 FYB1 G>A	5	39202038	39202038	G	A	FYB1	c.1025C>T	NM_001465.6	NP_001456.3:p.(Pro342Leu)	NC_000005.9:g.39202038G>A	VUS	1 lab	dfcb8b6628
6:56420187 DST A>T	6	56420187	56420187	A	T	DST	c.8735T>A	NM_001144769.5	NP_001138241.1:p.(Leu2912Gln)	NC_000006.11:g.56420187A>T	VUS	1 lab	dfd31948db
2:51256294 NRXN1 A>G	2	51256294	51256294	A	G	NRXN1	c.-883T>C	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.51256294A>G	(Likely) benign	1 lab	dfd478e798
9:101900253 TGFBR1 T>G	9	101900253	101900253	T	G	TGFBR1	c.687T>G	NM_004612.4	NP_004603.1:p.(Val229=)	NC_000009.11:g.101900253T>G	(Likely) benign	1 lab	dfd5482e91
4:9943688 SLC2A9 C>T	4	9943688	9943688	C	T	SLC2A9	c.682-19G>A	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9943688C>T	(Likely) benign	1 lab	dfd876bf2c
17:39919586 JUP G>A	17	39919586	39919586	G	A	JUP	c.1159-13C>T	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39919586G>A	(Likely) benign	1 lab	dfdb0c5b30
17:6596497 SLC13A5 A>AACAC	17	6596497	6596549	A	AACAC	SLC13A5	c.1157-20_1157-17dup	NM_177550.4	NP_808218.1:p.?	NC_000017.10:g.6596546_6596549dup	(Likely) benign	1 lab	dfdc75a83d
14:65268324 SPTB A>T	14	65268324	65268324	A	T	SPTB	c.647+148T>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268324A>T	(Likely) benign	1 lab	dfe0cabb87
12:6101204 VWF T>A	12	6101204	6101204	T	A	VWF	c.6599-20A>T	NM_000552.4	NP_000543.2:p.?	NC_000012.11:g.6101204T>A	(Likely) benign	1 lab	dfe338232a
4:114274328 ANK2 C>T	4	114274328	114274328	C	T	ANK2	c.4554C>T	NM_001148.4	NP_001139.3:p.(Thr1518=)	NC_000004.11:g.114274328C>T	(Likely) benign	1 lab	dfe3b08ca8
X:32841518 DMD G>A	X	32841518	32841518	G	A	DMD	c.-105-14C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32841518G>A	(Likely) benign	1 lab	dfe458dd84
X:110574142 DCX G>A	X	110574142	110574142	G	A	DCX	c.1174+5C>T	NM_000555.3	NP_000546.2:p.?	NC_000023.10:g.110574142G>A	(Likely) benign	1 lab	dfe4675faa
20:30419954 MYLK2 A>G	20	30419954	30419954	A	G	MYLK2	c.1710+15A>G	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30419954A>G	(Likely) benign	1 lab	e04c44719b
20:60893631 LAMA5 C>T	20	60893631	60893631	C	T	LAMA5	c.7118G>A	NM_005560.4	NP_005551.3:p.(Arg2373Gln)	NC_000020.10:g.60893631C>T	(Likely) benign	1 lab	dfe5829717
8:2050567 MYOM2 A>C	8	2050567	2050567	A	C	MYOM2	c.2730A>C	NM_003970.4	NP_003961.3:p.(Arg910Ser)	NC_000008.10:g.2050567A>C	VUS	1 lab	dfe6f321f4
1:154543556 CHRNB2 C>T	1	154543556	154543556	C	T	CHRNB2	c.366-109C>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154543556C>T	(Likely) benign	1 lab	dfeade6bc5
4:79434389 FRAS1 C>T	4	79434389	79434389	C	T	FRAS1	c.10014-157C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79434389C>T	(Likely) benign	1 lab	dfeef7bc74
4:114294551 ANK2 C>CT	4	114294551	114294552	C	CT	ANK2	c.11806dup	NM_001148.6	NP_001139.3:p.(Tyr3936LeufsTer13)	NC_000004.11:g.114294552dup	VUS	1 lab	dad2f68e82
16:2156805 PKD1 C>T	16	2156805	2156805	C	T	PKD1	c.7209+1G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156805C>T	(Likely) pathogenic	1 lab	dffcc38859
2:15557671 NBAS G>A	2	15557671	15557671	G	A	NBAS	c.2743C>T	NM_015909.4	NP_056993.2:p.(Leu915=)	NC_000002.11:g.15557671G>A	(Likely) benign	1 lab	dffd572082
2:169994021 LRP2 AAGAG>A	2	169994021	169994044	AAGAG	A	LRP2	c.13519-22_13519-19del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.169994041_169994044del	(Likely) benign	1 lab	dffd8210a5
4:39276463 WDR19 T>G	4	39276463	39276463	T	G	WDR19	c.3601T>G	NM_025132.4	NP_079408.3:p.(Cys1201Gly)	NC_000004.11:g.39276463T>G	VUS	1 lab	dffdacb981
19:14862247 ADGRE2 C>T	19	14862247	14862247	C	T	ADGRE2	c.2024+1G>A	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14862247C>T	VUS	1 lab	e000bf008e
1:247597329 NLRP3 C>T	1	247597329	247597329	C	T	NLRP3	c.2322-76C>T	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597329C>T	(Likely) benign	1 lab	e0069f2526
2:145153943 ZEB2 G>C	2	145153943	145153943	G	C	ZEB2	c.3067+36C>G	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145153943G>C	(Likely) benign	1 lab	e007e750dd
2:233406178 CHRNG G>A	2	233406178	233406178	G	A	CHRNG	c.445G>A	NM_005199.5	NP_005190.4:p.(Ala149Thr)	NC_000002.11:g.233406178G>A	(Likely) benign	1 lab	e04e721c7c
16:31195759 FUS CT>C	16	31195759	31195776	CT	C	FUS	c.523+59del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31195776del	(Likely) benign	1 lab	e0093c7abc
15:80464490 FAH G>A	15	80464490	80464490	G	A	FAH	c.607-1G>A	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80464490G>A	(Likely) pathogenic	1 lab	e009ece305
6:7575653 DSP C>T	6	7575653	7575653	C	T	DSP	c.2562C>T	NM_004415.2	NP_004406.2:p.(Gly854=)	NC_000006.11:g.7575653C>T	(Likely) pathogenic	1 lab	e012d9f928
1:196712719 CFH T>A	1	196712719	196712719	T	A	CFH	c.3271T>A	NM_000186.3	NP_000177.2:p.(Cys1091Ser)	NC_000001.10:g.196712719T>A	VUS	1 lab	e016e7e238
4:79432649 FRAS1 G>A	4	79432649	79432649	G	A	FRAS1	c.10002G>A	NM_025074.7	NP_079350.5:p.(Glu3334=)	NC_000004.11:g.79432649G>A	(Likely) benign	1 lab	e01b46cb54
13:20567666 ZMYM2 G>C	13	20567666	20567666	G	C	ZMYM2	c.454G>C	NM_003453.5	NP_003444.1:p.(Asp152His)	NC_000013.10:g.20567666G>C	(Likely) benign	1 lab	e01b9e23bf
19:11287454 KANK2 G>A	19	11287454	11287454	G	A	KANK2	c.1560C>T	NM_001136191.2	NP_001129663.1:p.(Asn520=)	NC_000019.9:g.11287454G>A	(Likely) benign	1 lab	e01d61b497
17:46023280 PNPO C>A	17	46023280	46023280	C	A	PNPO	c.471C>A	NM_018129.4	NP_060599.1:p.(Tyr157Ter)	NC_000017.10:g.46023280C>A	(Likely) pathogenic	1 lab	e01e0c8ad6
20:62078172 KCNQ2 G>A	20	62078172	62078172	G	A	KCNQ2	c.315C>T	NM_172107.4	NP_742105.1:p.(Ser105=)	NC_000020.10:g.62078172G>A	(Likely) benign	1 lab	e028ec7c85
10:68979560 CTNNA3 G>T	10	68979560	68979560	G	T	CTNNA3	c.648C>A	NM_013266.4	NP_037398.2:p.(Pro216=)	NC_000010.10:g.68979560G>T	(Likely) benign	1 lab	e02b228b0e
12:110034285 MVK TTGAC>T	12	110034285	110034291	TTGAC	T	MVK	c.1097_1100del	NM_000431.4	NP_000422.1:p.(Asp366AlafsTer110)	NC_000012.11:g.110034288_110034291del	(Likely) pathogenic	1 lab	e02b9c6298
15:42138130 JMJD7-PLA2G4B C>T	15	42138130	42138130	C	T	JMJD7-PLA2G4B	c.2189-11C>T	NM_005090.3	NP_005081.1:p.?	NC_000015.9:g.42138130C>T	(Likely) benign	1 lab	e035c5dea0
12:52309883 ACVRL1 G>A	12	52309883	52309883	G	A	ACVRL1	c.1112G>A	NM_000020.2	NP_000011.2:p.(Gly371Asp)	NC_000012.11:g.52309883G>A	VUS	1 lab	e038e3c5fb
13:101167776 PCCA G>A	13	101167776	101167776	G	A	PCCA	c.1995G>A	NM_000282.4	NP_000273.2:p.(Pro665=)	NC_000013.10:g.101167776G>A	(Likely) benign	1 lab	e03fa62c57
16:3304737 MEFV C>T	16	3304737	3304737	C	T	MEFV	c.331G>A	NM_000243.2	NP_000234.1:p.(Gly111Arg)	NC_000016.9:g.3304737C>T	VUS	1 lab	e04373b1e1
2:179400271 TTN C>G	2	179400271	179400271	C	G	TTN	c.74251G>C	NM_133432.3	NP_597676.3:p.(Asp24751His)	NC_000002.11:g.179400271C>G	VUS	1 lab	e04a723253
9:14773961 FREM1 T>TA	9	14773961	14773969	T	TA	FREM1	c.4857+1825dup	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14773969dup	(Likely) benign	1 lab	e04b9540aa
11:119156260 CBL G>T	11	119156260	119156260	G	T	CBL	c.1925G>T	NM_005188.4	NP_005179.2:p.(Ser642Ile)	NC_000011.9:g.119156260G>T	VUS	1 lab	dadf586450
7:87047903 ABCB4 T>A	7	87047903	87047903	T	A	ABCB4	c.2428A>T	NM_000443.4	NP_000434.1:p.(Thr810Ser)	NC_000007.13:g.87047903T>A	VUS	1 lab	dadfcf69cd
3:184096578 THPO A>G	3	184096578	184096578	A	G	THPO	c.-448-413T>C	NM_001289998.1	NP_001276927.1:p.?	NC_000003.11:g.184096578A>G	VUS	1 lab	e0564b1a4c
6:75899061 COL12A1 G>A	6	75899061	75899061	G	A	COL12A1	c.695C>T	NM_004370.6	NP_004361.3:p.(Thr232Met)	NC_000006.11:g.75899061G>A	(Likely) benign	1 lab	e062aa7fa0
11:65422486 RELA C>G	11	65422486	65422486	C	G	RELA	c.1034-15G>C	NM_021975.4	NP_068810.3:p.?	NC_000011.9:g.65422486C>G	(Likely) benign	1 lab	e062cd8153
11:108121714 ATM C>T	11	108121714	108121714	C	T	ATM	c.1522C>T	NM_000051.3	NP_000042.3:p.(Leu508Phe)	NC_000011.9:g.108121714C>T	VUS	1 lab	e063804b6e
2:228147063 COL4A3 T>A	2	228147063	228147063	T	A	COL4A3	c.2489-18T>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228147063T>A	(Likely) benign	1 lab	e0646e8c0c
18:48593406 SMAD4 G>A	18	48593406	48593406	G	A	SMAD4	c.1157G>A	NM_005359.5	NP_005350.1:p.(Gly386Asp)	NC_000018.9:g.48593406G>A	VUS	1 lab	e065c05fdf
9:93657837 SYK A>T	9	93657837	93657837	A	T	SYK	c.1863A>T	NM_003177.7	NP_003168.2:p.(Ala621=)	NC_000009.11:g.93657837A>T	(Likely) benign	1 lab	e06612a316
8:100844592 VPS13B T>TTTA	8	100844592	100844595	T	TTTA	VPS13B	c.9406-4_9406-2dup	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100844593_100844595dup	(Likely) benign	1 lab	e069944b6b
20:42788451 JPH2 A>G	20	42788451	42788451	A	G	JPH2	c.976T>C	NM_020433.5	NP_065166.2:p.(Tyr326His)	NC_000020.10:g.42788451A>G	VUS	1 lab	dae8c34f5b
16:3293538 MEFV G>T	16	3293538	3293538	G	T	MEFV	c.1949C>A	NM_000243.2	NP_000234.1:p.(Ser650Tyr)	NC_000016.9:g.3293538G>T	(Likely) pathogenic	1 lab	e072b56613
14:29237140 FOXG1 C>G	14	29237140	29237140	C	G	FOXG1	c.655C>G	NM_005249.5	NP_005240.3:p.(Arg219Gly)	NC_000014.8:g.29237140C>G	(Likely) pathogenic	1 lab	e074330b38
9:6589230 GLDC C>T	9	6589230	6589230	C	T	GLDC	c.1545G>A	NM_000170.2	NP_000161.2:p.(Arg515=)	NC_000009.11:g.6589230C>T	(Likely) benign	1 lab	e07554093f
15:43495525 EPB42 A>G	15	43495525	43495525	A	G	EPB42	c.1709-52T>C	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43495525A>G	(Likely) benign	1 lab	e0784ec2ec
5:37226913 CPLANE1 A>C	5	37226913	37226913	A	C	CPLANE1	c.1784T>G	NM_023073.3	NP_075561.3:p.(Leu595Ter)	NC_000005.9:g.37226913A>C	(Likely) pathogenic	1 lab	e07b05f708
2:166211285 SCN2A G>A	2	166211285	166211285	G	A	SCN2A	c.3399+104G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166211285G>A	(Likely) benign	1 lab	e07f736f7f
11:118916557 HYOU1 A>G	11	118916557	118916557	A	G	HYOU1	c.2888-14T>C	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118916557A>G	(Likely) benign	1 lab	e084440f33
4:57366880 SRP72 A>G	4	57366880	57366880	A	G	SRP72	c.1838+19A>G	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57366880A>G	(Likely) benign	1 lab	e084cdfef8
16:85667644 GSE1 C>T	16	85667644	85667644	C	T	GSE1	c.-86-14514C>T	NM_001134473.3	NP_001127945.1:p.?	NC_000016.9:g.85667644C>T	VUS	1 lab	daebb05952
12:33003847 PKP2 C>T	12	33003847	33003847	C	T	PKP2	c.1231G>A	NM_004572.3	NP_004563.2:p.(Val411Ile)	NC_000012.11:g.33003847C>T	VUS	1 lab	e08d51a04d
8:143995671 CYP11B2 T>C	8	143995671	143995671	T	C	CYP11B2	c.954+9A>G	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143995671T>C	(Likely) benign	1 lab	e08e6cdd9a
17:48141468 ITGA3 C>T	17	48141468	48141468	C	T	ITGA3	c.234C>T	NM_002204.4	NP_002195.1:p.(Leu78=)	NC_000017.10:g.48141468C>T	(Likely) benign	1 lab	e08ed4a3c0
11:47353673 MYBPC3 G>T	11	47353673	47353673	G	T	MYBPC3	c.3764C>A	NM_000256.3	NP_000247.2:p.(Ala1255Asp)	NC_000011.9:g.47353673G>T	(Likely) pathogenic	1 lab	e0947f86ca
5:141335107 PCDH12 A>C	5	141335107	141335107	A	C	PCDH12	c.2310T>G	NM_016580.4	NP_057664.1:p.(Ile770Met)	NC_000005.9:g.141335107A>C	VUS	1 lab	daecfe7e79
12:49422597 KMT2D C>T	12	49422597	49422597	C	T	KMT2D	c.14382+14G>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49422597C>T	(Likely) benign	1 lab	e096fc687b
7:156799292 MNX1 G>A	7	156799292	156799292	G	A	MNX1	c.733C>T	NM_005515.4	NP_005506.3:p.(Arg245Cys)	NC_000007.13:g.156799292G>A	(Likely) pathogenic	1 lab	e09c205b47
16:15833944 MYH11 G>A	16	15833944	15833944	G	A	MYH11	c.2982C>T	NM_001040113.2	NP_001035202.1:p.(Ile994=)	NC_000016.9:g.15833944G>A	(Likely) benign	1 lab	e0a14332b6
X:99657473 PCDH19 A>G	X	99657473	99657473	A	G	PCDH19	c.2616+49T>C	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99657473A>G	(Likely) benign	1 lab	e0a37591d8
3:50338047 HYAL1 G>A	3	50338047	50338047	G	A	HYAL1	c.1175C>T	NM_153281.1	NP_695013.1:p.(Thr392Met)	NC_000003.11:g.50338047G>A	(Likely) benign	1 lab	e0a54e43fd
7:156799172 MNX1 C>T	7	156799172	156799172	C	T	MNX1	c.852+1G>A	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156799172C>T	(Likely) pathogenic	1 lab	e0a87a577a
17:61564046 ACE G>T	17	61564046	61564046	G	T	ACE	c.2187G>T	NM_000789.4	NP_000780.1:p.(Arg729=)	NC_000017.10:g.61564046G>T	(Likely) benign	1 lab	e0acbb6650
X:32472780 DMD T>C	X	32472780	32472780	T	C	DMD	c.3233A>G	NM_004010.3	NP_004001.1:p.(Lys1078Arg)	NC_000023.10:g.32472780T>C	(Likely) pathogenic	1 lab	e0ae747b74
19:17888950 FCHO1 G>A	19	17888950	17888950	G	A	FCHO1	c.1264G>A	NM_015122.3	NP_055937.1:p.(Ala422Thr)	NC_000019.9:g.17888950G>A	(Likely) benign	1 lab	e0af788a87
15:55520856 RAB27A A>G	15	55520856	55520856	A	G	RAB27A	c.294T>C	NM_004580.5	NP_004571.2:p.(Leu98=)	NC_000015.9:g.55520856A>G	(Likely) benign	1 lab	e0b0814ab9
18:19437094 MIB1 G>C	18	19437094	19437094	G	C	MIB1	c.2669G>C	NM_020774.3	NP_065825.1:p.(Cys890Ser)	NC_000018.9:g.19437094G>C	VUS	1 lab	e0b2f714ae
1:237620019 RYR2 T>C	1	237620019	237620019	T	C	RYR2	c.1596T>C	NM_001035.3	NP_001026.2:p.(Ser532=)	NC_000001.10:g.237620019T>C	(Likely) benign	1 lab	daeec20fab
7:98779489 KPNA7 T>G	7	98779489	98779489	T	G	KPNA7	c.1317+17A>C	NM_001145715.2	NP_001139187.1:p.?	NC_000007.13:g.98779489T>G	(Likely) benign	1 lab	e0b822de64
1:205180474 DSTYK G>A	1	205180474	205180474	G	A	DSTYK	c.190C>T	NM_015375.3	NP_056190.1:p.(Leu64Phe)	NC_000001.10:g.205180474G>A	(Likely) benign	1 lab	e0b9e089d8
2:216296704 FN1 G>A	2	216296704	216296704	G	A	FN1	c.416-17C>T	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216296704G>A	(Likely) benign	1 lab	e0c2ce808b
3:47042610 NBEAL2 G>C	3	47042610	47042610	G	C	NBEAL2	c.4425G>C	NM_015175.2	NP_055990.1:p.(Val1475=)	NC_000003.11:g.47042610G>C	(Likely) benign	1 lab	e0cd1e271e
11:71152329 DHCR7 G>A	11	71152329	71152329	G	A	DHCR7	c.570C>T	NM_001360.2	NP_001351.2:p.(Ala190=)	NC_000011.9:g.71152329G>A	(Likely) benign	1 lab	e0d35bc742
19:7709520 STXBP2 C>T	19	7709520	7709520	C	T	STXBP2	c.1161C>T	NM_001272034.2	NP_001258963.1:p.(Asp387=)	NC_000019.9:g.7709520C>T	(Likely) benign	1 lab	e0d44a3356
13:32919029 BRCA2 A>T	13	32919029	32919029	A	T	BRCA2	c.6937+239A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32919029A>T	(Likely) benign	1 lab	e0d7f14b14
2:179532356 TTN G>A	2	179532356	179532356	G	A	TTN	c.35629+9C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179532356G>A	(Likely) benign	1 lab	e0d9500f9d
X:107935978 COL4A5 G>C	X	107935978	107935978	G	C	COL4A5	c.4511G>C	NM_000495.5	NP_000486.1:p.(Gly1504Ala)	NC_000023.10:g.107935978G>C	(Likely) pathogenic	1 lab	e0da658240
17:7453463 TNFSF12 C>T	17	7453463	7453463	C	T	TNFSF12	c.234C>T	NM_003809.3	NP_003800.1:p.(Ser78=)	NC_000017.10:g.7453463C>T	(Likely) benign	1 lab	e0de7fbf14
3:123603042 MYLK G>C	3	123603042	123603042	G	C	MYLK	c.-186+11C>G	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123603042G>C	(Likely) benign	1 lab	e0e27c2453
1:9777576 PIK3CD C>G	1	9777576	9777576	C	G	PIK3CD	c.931-19C>G	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9777576C>G	(Likely) benign	1 lab	e0e73fc9dd
1:207627834 CR2 G>A	1	207627834	207627834	G	A	CR2	c.58+13G>A	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207627834G>A	(Likely) benign	1 lab	e0ebf2caf6
7:45108164 CCM2 G>GC	7	45108164	45108165	G	GC	CCM2	c.659dup	NM_001029835.2	NP_001025006.1:p.(Ala221CysfsTer36)	NC_000007.13:g.45108165dup	(Likely) pathogenic	1 lab	e0ed567e2e
6:2890543 SERPINB9 C>A	6	2890543	2890543	C	A	SERPINB9	c.985G>T	NM_004155.6	NP_004146.1:p.(Ala329Ser)	NC_000006.11:g.2890543C>A	VUS	1 lab	e0f0e834d8
2:121708955 GLI2 C>T	2	121708955	121708955	C	T	GLI2	c.391C>T	NM_005270.4	NP_005261.2:p.(Arg131Cys)	NC_000002.11:g.121708955C>T	(Likely) benign	1 lab	e0f7b5625c
14:65268966 SPTB A>C	14	65268966	65268966	A	C	SPTB	c.544T>G	NM_001024858.3	NP_001020029.1:p.(Trp182Gly)	NC_000014.8:g.65268966A>C	(Likely) pathogenic	1 lab	e0fb74ddff
16:4748033 ANKS3 C>G	16	4748033	4748033	C	G	ANKS3	c.1755G>C	NM_133450.4	NP_597707.1:p.(Val585=)	NC_000016.9:g.4748033C>G	(Likely) benign	1 lab	e0fdcf4bd2
5:14492832 TRIO G>C	5	14492832	14492832	G	C	TRIO	c.7789G>C	NM_007118.4	NP_009049.2:p.(Asp2597His)	NC_000005.9:g.14492832G>C	VUS	1 lab	e0fe893904
1:226924280 ITPKB C>A	1	226924280	226924280	C	A	ITPKB	c.880G>T	NM_002221.3	NP_002212.3:p.(Gly294Trp)	NC_000001.10:g.226924280C>A	(Likely) benign	1 lab	e1026d738b
X:154197675 F8 T>C	X	154197675	154197675	T	C	F8	c.940A>G	NM_000132.3	NP_000123.1:p.(Thr314Ala)	NC_000023.10:g.154197675T>C	(Likely) pathogenic	1 lab	e102955252
1:158587322 SPTA1 C>T	1	158587322	158587322	C	T	SPTA1	c.6600+5G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158587322C>T	(Likely) pathogenic	1 lab	e105a6c746
6:32036363 TNXB T>C	6	32036363	32036363	T	C	TNXB	c.6024A>G	NM_019105.8	NP_061978.6:p.(Thr2008=)	NC_000006.11:g.32036363T>C	(Likely) benign	1 lab	e106c3f0ed
9:141000201 CACNA1B C>T	9	141000201	141000201	C	T	CACNA1B	c.5370C>T	NM_000718.4	NP_000709.1:p.(His1790=)	NC_000009.11:g.141000201C>T	(Likely) benign	1 lab	e10817619c
14:105175614 INF2 C>G	14	105175614	105175614	C	G	INF2	c.1950-4C>G	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105175614C>G	(Likely) benign	1 lab	e10a8c15ba
17:73831626 UNC13D G>C	17	73831626	73831626	G	C	UNC13D	c.1728-16C>G	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73831626G>C	(Likely) benign	1 lab	e10aa271e6
16:1524852 CLCN7 G>T	16	1524852	1524852	G	T	CLCN7	c.124C>A	NM_001287.6	NP_001278.1:p.(Pro42Thr)	NC_000016.9:g.1524852G>T	(Likely) benign	1 lab	e10db20a8d
17:73830485 UNC13D G>A	17	73830485	73830485	G	A	UNC13D	c.2219C>T	NM_199242.2	NP_954712.1:p.(Thr740Met)	NC_000017.10:g.73830485G>A	VUS	1 lab	e10eb961a7
19:13373743 CACNA1A C>T	19	13373743	13373743	C	T	CACNA1A	c.4002-96G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13373743C>T	(Likely) benign	1 lab	e1109eb5d8
1:116936341 ATP1A1 C>T	1	116936341	116936341	C	T	ATP1A1	c.1656C>T	NM_001160233.1	NP_001153705.1:p.(Val552=)	NC_000001.10:g.116936341C>T	(Likely) benign	1 lab	e11248e00a
17:18149093 FLII G>A	17	18149093	18149093	G	A	FLII	c.3435C>T	NM_001256264.2	NP_001243193.1:p.(Asp1145=)	NC_000017.10:g.18149093G>A	(Likely) benign	1 lab	e11607c8d4
19:11559409 PRKCSH C>A	19	11559409	11559409	C	A	PRKCSH	c.1230C>A	NM_002743.3	NP_002734.2:p.(Tyr410Ter)	NC_000019.9:g.11559409C>A	(Likely) pathogenic	1 lab	e119db09b8
2:30142865 ALK C>G	2	30142865	30142865	C	G	ALK				NC_000002.11:g.30142865C>G	(Likely) benign	1 lab	12925bbef7
16:3304446 MEFV T>A	16	3304446	3304446	T	A	MEFV	c.622A>T	NM_000243.2	NP_000234.1:p.(Ser208Cys)	NC_000016.9:g.3304446T>A	VUS	1 lab	e11d9624a8
16:3778424 CREBBP TTGTTGCTGCTGC>T	16	3778424	3778450	TTGTTGCTGCTGC	T	CREBBP	c.6612_6623del	NM_004380.3	NP_004371.2:p.(Gln2213_Gln2216del)	NC_000016.9:g.3778439_3778450del	VUS	1 lab	daf5b55c10
6:33419646 SYNGAP1 C>T	6	33419646	33419646	C	T	SYNGAP1	c.3995C>T	NM_006772.3	NP_006763.2:p.(Thr1332Met)	NC_000006.11:g.33419646C>T	(Likely) benign	1 lab	e1216e20fa
2:44021766 DYNC2LI1 T>C	2	44021766	44021766	T	C	DYNC2LI1	c.491T>C	NM_016008.4	NP_057092.2:p.(Met164Thr)	NC_000002.11:g.44021766T>C	(Likely) benign	1 lab	e1248bb6b5
1:43898446 SZT2 G>A	1	43898446	43898446	G	A	SZT2	c.5407G>A	NM_015284.4	NP_056099.3:p.(Gly1803Ser)	NC_000001.10:g.43898446G>A	VUS	1 lab	e12969e632
X:99551704 PCDH19 G>A	X	99551704	99551704	G	A	PCDH19	c.3018C>T	NM_001184880.2	NP_001171809.1:p.(Asp1006=)	NC_000023.10:g.99551704G>A	(Likely) benign	1 lab	e129b39f51
12:2602575 CACNA1C C>A	12	2602575	2602575	C	A	CACNA1C	c.1113+23C>A	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2602575C>A	(Likely) benign	1 lab	e12c6f3be8
2:166226893 SCN2A CA>C	2	166226893	166226894	CA	C	SCN2A	c.3849+85del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166226894del	(Likely) benign	1 lab	e12eb9e642
2:179458020 TTN A>G	2	179458020	179458020	A	G	TTN	c.32095T>C	NM_133432.3	NP_597676.3:p.(Phe10699Leu)	NC_000002.11:g.179458020A>G	(Likely) benign	1 lab	e12fcce7c9
2:163133426 IFIH1 TCAGC>T	2	163133426	163133435	TCAGC	T	IFIH1	c.2071_2074del	NM_022168.4	NP_071451.2:p.(Ala691LysfsTer10)	NC_000002.11:g.163133432_163133435del	VUS	1 lab	dafb07968d
9:130605542 ENG G>A	9	130605542	130605542	G	A	ENG	c.68-18C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130605542G>A	(Likely) benign	1 lab	e136061431
2:47703703 MSH2 A>T	2	47703703	47703703	A	T	MSH2	c.2203A>T	NM_000251.2	NP_000242.1:p.(Ile735Phe)	NC_000002.11:g.47703703A>T	VUS	1 lab	e136a9a8a9
1:78408391 NEXN AACTT>A	1	78408391	78408398	AACTT	A	NEXN	c.1909_1912del	NM_144573.4	NP_653174.3:p.(Tyr637AlafsTer48)	NC_000001.10:g.78408395_78408398del	(Likely) pathogenic	1 lab	e139eecb42
3:189713205 P3H2 T>C	3	189713205	189713205	T	C	P3H2	c.507A>G	NM_018192.4	NP_060662.2:p.(Glu169=)	NC_000003.11:g.189713205T>C	(Likely) benign	1 lab	dafb28922e
1:200558420 KIF14 C>T	1	200558420	200558420	C	T	KIF14	c.3039G>A	NM_014875.3	NP_055690.1:p.(Lys1013=)	NC_000001.10:g.200558420C>T	(Likely) benign	1 lab	e13b73602c
4:79291275 FRAS1 G>A	4	79291275	79291275	G	A	FRAS1	c.2869+137G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79291275G>A	(Likely) benign	1 lab	e14148077a
9:740856 KANK1 C>T	9	740856	740856	C	T	KANK1	c.3618C>T	NM_015158.4	NP_055973.2:p.(Ala1206=)	NC_000009.11:g.740856C>T	(Likely) benign	1 lab	e144ba4b8b
13:111142137 COL4A2 G>A	13	111142137	111142137	G	A	COL4A2	c.3346+5G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111142137G>A	(Likely) benign	1 lab	dafecfc25e
9:130413879 STXBP1 T>C	9	130413879	130413879	T	C	STXBP1	c.38-3T>C	NM_003165.6	NP_003156.1:p.?	NC_000009.11:g.130413879T>C	(Likely) benign	1 lab	e14ac264c1
11:118919560 HYOU1 G>A	11	118919560	118919560	G	A	HYOU1	c.2031C>T	NM_006389.5	NP_006380.1:p.(Val677=)	NC_000011.9:g.118919560G>A	(Likely) benign	1 lab	e14ae4938e
19:1621905 TCF3 G>T	19	1621905	1621905	G	T	TCF3	c.887C>A	NM_003200.5	NP_003191.1:p.(Ala296Asp)	NC_000019.9:g.1621905G>T	(Likely) benign	1 lab	e14e06902e
4:151749596 LRBA G>C	4	151749596	151749596	G	C	LRBA	c.4907C>G	NM_006726.4	NP_006717.2:p.(Ala1636Gly)	NC_000004.11:g.151749596G>C	VUS	1 lab	db02920b1c
1:12023673 PLOD1 G>C	1	12023673	12023673	G	C	PLOD1	c.1323G>C	NM_001316320.2	NP_001303249.1:p.(Arg441=)	NC_000001.10:g.12023673G>C	(Likely) benign	1 lab	e14f8370f3
12:48240209 VDR C>T	12	48240209	48240209	C	T	VDR	c.1083G>A	NM_001017536.2	NP_001017536.1:p.(Glu361=)	NC_000012.11:g.48240209C>T	(Likely) benign	1 lab	db02d7d2ae
12:110012686 MVK A>G	12	110012686	110012686	A	G	MVK	c.59A>G	NM_000431.2	NP_000422.1:p.(His20Arg)	NC_000012.11:g.110012686A>G	(Likely) pathogenic	1 lab	e15251049a
1:65335119 JAK1 T>C	1	65335119	65335119	T	C	JAK1	c.522A>G	NM_002227.4	NP_002218.2:p.(Arg174=)	NC_000001.10:g.65335119T>C	(Likely) benign	1 lab	e152e02e7b
8:27321666 CHRNA2 T>C	8	27321666	27321666	T	C	CHRNA2	c.450-156A>G	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27321666T>C	(Likely) benign	1 lab	e155bc11d6
5:39331786 C9 T>C	5	39331786	39331786	T	C	C9	c.607A>G	NM_001737.3	NP_001728.1:p.(Ile203Val)	NC_000005.9:g.39331786T>C	(Likely) benign	1 lab	e156972ecc
3:132432132 NPHP3 T>C	3	132432132	132432132	T	C	NPHP3	c.958-2A>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132432132T>C	(Likely) pathogenic	1 lab	e156f36a83
14:23342006 LRP10 C>A	14	23342006	23342006	C	A	LRP10	c.79+15C>A	NM_014045.5	NP_054764.2:p.?	NC_000014.8:g.23342006C>A	(Likely) benign	1 lab	e158b8b2ec
3:77542389 ROBO2 T>C	3	77542389	77542389	T	C	ROBO2	c.668-6T>C	NM_002942.5	NP_002933.1:p.?	NC_000003.11:g.77542389T>C	(Likely) benign	1 lab	e15925753d
X:141291188 MAGEC2 C>T	X	141291188	141291188	C	T	MAGEC2	c.586G>A	NM_016249.4	NP_057333.1:p.(Ala196Thr)	NC_000023.10:g.141291188C>T	(Likely) benign	1 lab	e15ed24fda
11:57367433 SERPING1 G>T	11	57367433	57367433	G	T	SERPING1	c.133G>T	NM_000062.2	NP_000053.2:p.(Val45Phe)	NC_000011.9:g.57367433G>T	(Likely) benign	1 lab	e160e437c3
X:40456492 ATP6AP2 A>T	X	40456492	40456492	A	T	ATP6AP2	c.301-9A>T	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40456492A>T	(Likely) benign	1 lab	e1637669fa
15:68521881 CLN6 G>T	15	68521881	68521881	G	T	CLN6	c.42C>A	NM_017882.3	NP_060352.1:p.(Gly14=)	NC_000015.9:g.68521881G>T	(Likely) benign	1 lab	e16486df11
2:207653620 FASTKD2 A>G	2	207653620	207653620	A	G	FASTKD2	c.1891A>G	NM_014929.4	NP_055744.2:p.(Ile631Val)	NC_000002.11:g.207653620A>G	VUS	1 lab	db07850679
1:206567149 MISSING T>C	1	206567149	206567149	T	C	MISSING				NC_000001.10:g.206567149T>C	(Likely) benign	1 lab	e167ae1ac5
16:28944271 CD19 T>G	16	28944271	28944271	T	G	CD19	c.395T>G	NM_001770.5	NP_001761.3:p.(Leu132Arg)	NC_000016.9:g.28944271T>G	(Likely) benign	1 lab	e16afe9ec0
19:6707888 C3 T>C	19	6707888	6707888	T	C	C3	c.1898A>G	NM_000064.2	NP_000055.2:p.(Lys633Arg)	NC_000019.9:g.6707888T>C	(Likely) benign	1 lab	e16b8986a9
12:2717761 CACNA1C C>T	12	2717761	2717761	C	T	CACNA1C	c.3501C>T	NM_199460.3	NP_955630.3:p.(Ile1167=)	NC_000012.11:g.2717761C>T	(Likely) benign	1 lab	e16d1557bc
4:2833637 SH3BP2 C>T	4	2833637	2833637	C	T	SH3BP2	c.1351-13C>T	NM_003023.4	NP_003014.3:p.?	NC_000004.11:g.2833637C>T	(Likely) benign	1 lab	e17086c5a6
18:33779858 MOCOS C>T	18	33779858	33779858	C	T	MOCOS	c.512C>T	NM_017947.4	NP_060417.4:p.(Pro171Leu)	NC_000018.9:g.33779858C>T	(Likely) benign	1 lab	e1739ab3a0
16:3306417 MEFV C>T	16	3306417	3306417	C	T	MEFV	c.171G>A	NM_000243.2	NP_000234.1:p.(Leu57=)	NC_000016.9:g.3306417C>T	(Likely) benign	1 lab	e178646dc3
12:39709031 KIF21A C>T	12	39709031	39709031	C	T	KIF21A	c.3959G>A	NM_001173464.2	NP_001166935.1:p.(Arg1320Lys)	NC_000012.11:g.39709031C>T	(Likely) benign	1 lab	e178a37914
X:154215513 F8 T>C	X	154215513	154215513	T	C	F8	c.669A>G	NM_000132.3	NP_000123.1:p.(Glu223=)	NC_000023.10:g.154215513T>C	(Likely) pathogenic	1 lab	e17b0def17
4:79351554 FRAS1 G>A	4	79351554	79351554	G	A	FRAS1	c.4952G>A	NM_025074.7	NP_079350.5:p.(Arg1651Gln)	NC_000004.11:g.79351554G>A	(Likely) benign	1 lab	e17e800177
3:186384015 HRG C>T	3	186384015	186384015	C	T	HRG	c.183+12C>T	NM_000412.5	NP_000403.1:p.?	NC_000003.11:g.186384015C>T	(Likely) benign	1 lab	db0849d7ee
X:48801472 OTUD5 C>T	X	48801472	48801472	C	T	OTUD5	c.667G>A	NM_017602.4	NP_060072.1:p.(Ala223Thr)	NC_000023.10:g.48801472C>T	(Likely) pathogenic	1 lab	e1815491f2
12:110032988 MVK T>C	12	110032988	110032988	T	C	MVK	c.1039+2T>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110032988T>C	(Likely) pathogenic	1 lab	e1816dc3fc
9:32466325 RIGI C>T	9	32466325	32466325	C	T	RIGI	c.2300G>A	NM_014314.4	NP_055129.2:p.(Arg767His)	NC_000009.11:g.32466325C>T	(Likely) benign	1 lab	e182f17dff
12:6438589 TNFRSF1A C>T	12	6438589	6438589	C	T	TNFRSF1A	c.1257G>A	NM_001065.3	NP_001056.1:p.(Glu419=)	NC_000012.11:g.6438589C>T	(Likely) benign	1 lab	e183c0f837
6:145956419 EPM2A G>A	6	145956419	145956419	G	A	EPM2A	c.680C>T	NM_005670.4	NP_005661.1:p.(Ala227Val)	NC_000006.11:g.145956419G>A	(Likely) benign	1 lab	e1850fe4b4
1:161192845 APOA2 CCA>C	1	161192845	161192884	CCA	C	APOA2	c.53-7_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192883_161192884del	(Likely) benign	1 lab	e186bfb08b
3:49167371 LAMB2 C>T	3	49167371	49167371	C	T	LAMB2	c.1306G>A	NM_002292.4	NP_002283.3:p.(Gly436Ser)	NC_000003.11:g.49167371C>T	(Likely) benign	1 lab	e186fbc0c5
13:29242718 POMP T>C	13	29242718	29242718	T	C	POMP	c.264+7T>C	NM_015932.6	NP_057016.1:p.?	NC_000013.10:g.29242718T>C	(Likely) benign	1 lab	e191fefdaa
17:7749475 KDM6B C>T	17	7749475	7749475	C	T	KDM6B	c.316C>T	NM_001080424.2	NP_001073893.1:p.(Gln106Ter)	NC_000017.10:g.7749475C>T	(Likely) pathogenic	1 lab	db0ce2602c
10:96058130 PLCE1 G>C	10	96058130	96058130	G	C	PLCE1	c.5168-6G>C	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96058130G>C	(Likely) benign	1 lab	e1a024ca68
4:151849787 LRBA G>A	4	151849787	151849787	G	A	LRBA	c.449-19C>T	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151849787G>A	(Likely) benign	1 lab	e1a33bdcb9
21:33036172 SOD1 G>T	21	33036172	33036172	G	T	SOD1	c.142G>T	NM_000454.4	NP_000445.1:p.(Val48Phe)	NC_000021.8:g.33036172G>T	(Likely) pathogenic	1 lab	e1a517d99b
9:340168 DOCK8 G>C	9	340168	340168	G	C	DOCK8	c.1526G>C	NM_203447.3	NP_982272.2:p.(Arg509Thr)	NC_000009.11:g.340168G>C	(Likely) benign	1 lab	e1a5991f06
12:53825046 AMHR2 G>A	12	53825046	53825046	G	A	AMHR2	c.1511G>A	NM_020547.3	NP_065434.1:p.(Arg504His)	NC_000012.11:g.53825046G>A	(Likely) pathogenic	1 lab	e1a5f91de5
9:123731393 C5 G>A	9	123731393	123731393	G	A	C5	c.4166C>T	NM_001735.2	NP_001726.2:p.(Ser1389Phe)	NC_000009.11:g.123731393G>A	(Likely) benign	1 lab	e1a625487f
16:2105335 TSC2 C>G	16	2105335	2105335	C	G	TSC2	c.482-68C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105335C>G	(Likely) benign	1 lab	e1a6c91a1d
1:214815050 CENPF C>T	1	214815050	214815050	C	T	CENPF	c.3369C>T	NM_016343.4	NP_057427.3:p.(Ser1123=)	NC_000001.10:g.214815050C>T	(Likely) benign	1 lab	e1a7cf34d4
16:31201374 FUS C>T	16	31201374	31201374	C	T	FUS	c.1080C>T	NM_004960.3	NP_004951.1:p.(Ser360=)	NC_000016.9:g.31201374C>T	(Likely) benign	1 lab	e1d9c4ce9e
12:103245539 PAH A>G	12	103245539	103245539	A	G	PAH	c.843-5T>C	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103245539A>G	(Likely) pathogenic	1 lab	e1b488c413
14:102499914 DYNC1H1 G>A	14	102499914	102499914	G	A	DYNC1H1	c.10413+93G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102499914G>A	(Likely) benign	1 lab	e1b491f37d
17:33880305 SLFN14 T>C	17	33880305	33880305	T	C	SLFN14	c.1348A>G	NM_001129820.2	NP_001123292.1:p.(Lys450Glu)	NC_000017.10:g.33880305T>C	(Likely) benign	1 lab	e1b5cac928
1:3348721 PRDM16 G>C	1	3348721	3348721	G	C	PRDM16	c.3696+17G>C	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3348721G>C	(Likely) benign	1 lab	e1b842f4d3
8:41559184 ANK1 CA>C	8	41559184	41559185	CA	C	ANK1	c.2389-45del	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41559185del	(Likely) benign	1 lab	e1b948e2db
12:52314576 ACVRL1 T>C	12	52314576	52314576	T	C	ACVRL1	c.1411T>C	NM_000020.2	NP_000011.2:p.(Cys471Arg)	NC_000012.11:g.52314576T>C	VUS	1 lab	e1be2a6305
1:183534907 NCF2 C>A	1	183534907	183534907	C	A	NCF2	c.932G>T	NM_000433.3	NP_000424.2:p.(Ser311Ile)	NC_000001.10:g.183534907C>A	(Likely) benign	1 lab	e1be5e13f7
6:52318812 EFHC1 G>A	6	52318812	52318812	G	A	EFHC1	c.724-81G>A	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52318812G>A	(Likely) benign	1 lab	e1c4d06bb4
21:38865311 DYRK1A T>C	21	38865311	38865311	T	C	DYRK1A	c.952-8T>C	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38865311T>C	(Likely) benign	1 lab	e1ca5e656f
X:67413810 OPHN1 G>GA	X	67413810	67413814	G	GA	OPHN1	c.1139-17dup	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67413814dup	(Likely) benign	1 lab	e1ca985ff7
15:41319914 INO80 G>A	15	41319914	41319914	G	A	INO80	c.2928C>T	NM_017553.3	NP_060023.1:p.(His976=)	NC_000015.9:g.41319914G>A	(Likely) benign	1 lab	e1cc4c4c63
17:40371314 STAT5B C>T	17	40371314	40371314	C	T	STAT5B	c.833+16G>A	NM_012448.3	NP_036580.2:p.?	NC_000017.10:g.40371314C>T	(Likely) benign	1 lab	e1d381343e
1:151374126 PSMB4 T>C	1	151374126	151374126	T	C	PSMB4	c.782+20T>C	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151374126T>C	(Likely) benign	1 lab	e1d74eba6f
8:145540238 DGAT1 C>T	8	145540238	145540238	C	T	DGAT1	c.1446G>A	NM_012079.6	NP_036211.2:p.(Glu482=)	NC_000008.10:g.145540238C>T	(Likely) benign	1 lab	e1d7c68e95
16:336413 PDIA2 G>A	16	336413	336413	G	A	PDIA2	c.1180G>A	NM_006849.4	NP_006840.2:p.(Val394Met)	NC_000016.9:g.336413G>A	VUS	1 lab	db0dac7c14
3:48897078 SLC25A20 A>G	3	48897078	48897078	A	G	SLC25A20	c.536-18T>C	NM_000387.6	NP_000378.1:p.?	NC_000003.11:g.48897078A>G	(Likely) benign	1 lab	db182e4ed4
16:3293803 MEFV G>A	16	3293803	3293803	G	A	MEFV	c.1792+57C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293803G>A	(Likely) benign	1 lab	e1e29f55bc
10:90762894 FAS C>T	10	90762894	90762894	C	T	FAS	c.139C>T	NM_000043.4	NP_000034.1:p.(Gln47Ter)	NC_000010.10:g.90762894C>T	(Likely) pathogenic	1 lab	e1e3e07a2c
16:2104304 TSC2 G>A	16	2104304	2104304	G	A	TSC2	c.344G>A	NM_000548.3	NP_000539.2:p.(Arg115His)	NC_000016.9:g.2104304G>A	(Likely) benign	1 lab	e1e564fc9a
2:228159714 COL4A3 GGGTATAAGAGGTGACCAAGGACGT>G	2	228159714	228159739	GGGTATAAGAGGTGACCAAGGACGT	G	COL4A3	c.3455_3478del	NM_000091.5	NP_000082.2:p.(Gly1152_Arg1159del)	NC_000002.11:g.228159716_228159739del	(Likely) pathogenic	1 lab	e1e8c72b88
1:11259404 MTOR G>A	1	11259404	11259404	G	A	MTOR	c.4164C>T	NM_004958.3	NP_004949.1:p.(Ala1388=)	NC_000001.10:g.11259404G>A	(Likely) benign	1 lab	e1edce078d
11:108122750 ATM T>C	11	108122750	108122750	T	C	ATM	c.1794T>C	NM_000051.3	NP_000042.3:p.(Ile598=)	NC_000011.9:g.108122750T>C	(Likely) benign	1 lab	e1fcc8b4ec
4:86985476 MAPK10 G>A	4	86985476	86985476	G	A	MAPK10	c.939C>T	NM_138980.4	NP_620446.1:p.(Asp313=)	NC_000004.11:g.86985476G>A	(Likely) benign	1 lab	db1d016514
2:200137048 SATB2 G>A	2	200137048	200137048	G	A	SATB2	c.2088C>T	NM_015265.4	NP_056080.1:p.(Thr696=)	NC_000002.11:g.200137048G>A	(Likely) benign	1 lab	e20c846461
9:131284932 GLE1 A>C	9	131284932	131284932	A	C	GLE1	c.433-15A>C	NM_001003722.1	NP_001003722.1:p.?	NC_000009.11:g.131284932A>C	(Likely) benign	1 lab	e211a6cb2b
15:42702184 CAPN3 G>A	15	42702184	42702184	G	A	CAPN3	c.2106G>A	NM_000070.3	NP_000061.1:p.(Ala702=)	NC_000015.9:g.42702184G>A	(Likely) benign	1 lab	e217c42004
14:65268718 SPTB A>G	14	65268718	65268718	A	G	SPTB	c.567-166T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65268718A>G	(Likely) benign	1 lab	e2182c47cf
6:108214694 SEC63 C>T	6	108214694	108214694	C	T	SEC63	c.1666G>A	NM_007214.5	NP_009145.1:p.(Val556Ile)	NC_000006.11:g.108214694C>T	(Likely) benign	1 lab	e218d29ac0
22:32229990 DEPDC5 G>A	22	32229990	32229990	G	A	DEPDC5	c.2170+24G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32229990G>A	(Likely) benign	1 lab	e21b4cfcfb
4:55968682 KDR A>T	4	55968682	55968682	A	T	KDR	c.1988-7T>A	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55968682A>T	VUS	1 lab	db257d69bb
17:59878700 BRIP1 A>G	17	59878700	59878700	A	G	BRIP1	c.1054T>C	NM_032043.2	NP_114432.2:p.(Tyr352His)	NC_000017.10:g.59878700A>G	VUS	1 lab	e227393103
2:166797556 TTC21B T>A	2	166797556	166797556	T	A	TTC21B	c.691A>T	NM_024753.5	NP_079029.3:p.(Thr231Ser)	NC_000002.11:g.166797556T>A	(Likely) benign	1 lab	e227a5ac07
3:64133194 PRICKLE2 G>A	3	64133194	64133194	G	A	PRICKLE2	c.972C>T	NM_198859.4	NP_942559.1:p.(Ser324=)	NC_000003.11:g.64133194G>A	(Likely) benign	1 lab	e2290c9738
4:79391218 FRAS1 C>T	4	79391218	79391218	C	T	FRAS1	c.7344C>T	NM_025074.7	NP_079350.5:p.(Leu2448=)	NC_000004.11:g.79391218C>T	(Likely) benign	1 lab	e22ccc39a5
10:16946056 CUBN T>C	10	16946056	16946056	T	C	CUBN	c.7971A>G	NM_001081.3	NP_001072.2:p.(Pro2657=)	NC_000010.10:g.16946056T>C	(Likely) benign	1 lab	e22d57a4a5
19:38954161 RYR1 C>T	19	38954161	38954161	C	T	RYR1	c.2676C>T	NM_000540.2	NP_000531.2:p.(Tyr892=)	NC_000019.9:g.38954161C>T	(Likely) benign	1 lab	e22db57c94
12:67197910 GRIP1 C>G	12	67197910	67197910	C	G	GRIP1	c.56G>C	NM_001366724.1	NP_001353653.1:p.(Gly19Ala)	NC_000012.11:g.67197910C>G	(Likely) benign	1 lab	e2305d9d35
4:103527745 NFKB1 G>T	4	103527745	103527745	G	T	NFKB1	c.1845G>T	NM_003998.4	NP_003989.2:p.(Leu615Phe)	NC_000004.11:g.103527745G>T	(Likely) benign	1 lab	e232cce7ab
17:56435813 RNF43 C>T	17	56435813	56435813	C	T	RNF43	c.1324G>A	NM_017763.5	NP_060233.3:p.(Asp442Asn)	NC_000017.10:g.56435813C>T	VUS	1 lab	e23687bcc5
9:137711980 COL5A1 G>A	9	137711980	137711980	G	A	COL5A1	c.4465G>A	NM_000093.5	NP_000084.3:p.(Gly1489Arg)	NC_000009.11:g.137711980G>A	(Likely) pathogenic	1 lab	db25de2c60
19:13346408 CACNA1A C>T	19	13346408	13346408	C	T	CACNA1A	c.5085+20G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13346408C>T	(Likely) benign	1 lab	e23e0b4957
8:41615429 ANK1 G>A	8	41615429	41615429	G	A	ANK1	c.228+125C>T	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41615429G>A	(Likely) benign	1 lab	e24010ea77
4:120213810 USP53 G>A	4	120213810	120213810	G	A	USP53	c.2666G>A	NM_019050.2	NP_061923.2:p.(Cys889Tyr)	NC_000004.11:g.120213810G>A	VUS	1 lab	e241a91d33
22:51160156 SHANK3 G>T	22	51160156	51160156	G	T	SHANK3	c.4120G>T	NM_001372044.1	NP_001358973.1:p.(Glu1374Ter)	NC_000022.10:g.51160156G>T	(Likely) pathogenic	1 lab	e24314caf5
12:114793725 TBX5 A>C	12	114793725	114793725	A	C	TBX5	c.1169T>G	NM_000192.3	NP_000183.2:p.(Val390Gly)	NC_000012.11:g.114793725A>C	VUS	1 lab	e247d97fc5
16:57490460 COQ9 T>C	16	57490460	57490460	T	C	COQ9	c.423T>C	NM_020312.4	NP_064708.1:p.(Asp141=)	NC_000016.9:g.57490460T>C	(Likely) benign	1 lab	e24814da12
13:39265800 FREM2 C>A	13	39265800	39265800	C	A	FREM2	c.4319C>A	NM_207361.6	NP_997244.4:p.(Thr1440Lys)	NC_000013.10:g.39265800C>A	(Likely) benign	1 lab	e24872d62b
19:45411770 APOE TCCCG>T	19	45411770	45411777	TCCCG	T	APOE	c.237-16_237-13del	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45411774_45411777del	(Likely) benign	1 lab	e24c79fee9
17:3558541 CTNS G>A	17	3558541	3558541	G	A	CTNS	c.356G>A	NM_004937.3	NP_004928.2:p.(Arg119His)	NC_000017.10:g.3558541G>A	(Likely) benign	1 lab	e29143ff83
7:4830897 AP5Z1 A>G	7	4830897	4830897	A	G	AP5Z1	c.2305A>G	NM_014855.3	NP_055670.1:p.(Thr769Ala)	NC_000007.13:g.4830897A>G	(Likely) benign	1 lab	e24dc027f1
17:40945763 WNK4 G>A	17	40945763	40945763	G	A	WNK4	c.2295+16G>A	NM_032387.5	NP_115763.2:p.?	NC_000017.10:g.40945763G>A	(Likely) benign	1 lab	e24df361f7
20:61992424 CHRNA4 C>A	20	61992424	61992424	C	A	CHRNA4	c.-471+105G>T	NM_001256573.2	NP_001243502.1:p.?	NC_000020.10:g.61992424C>A	(Likely) benign	1 lab	e24e3d7510
3:123359159 MYLK G>A	3	123359159	123359159	G	A	MYLK	c.4812C>T	NM_053025.3	NP_444253.3:p.(Ile1604=)	NC_000003.11:g.123359159G>A	(Likely) benign	1 lab	e24ec6aae8
18:59768363 PIGN T>C	18	59768363	59768363	T	C	PIGN	c.2022A>G	NM_176787.4	NP_789744.1:p.(Leu674=)	NC_000018.9:g.59768363T>C	(Likely) benign	1 lab	e256c73040
2:219679347 CYP27A1 G>T	2	219679347	219679347	G	T	CYP27A1	c.1343G>T	NM_000784.4	NP_000775.1:p.(Arg448Leu)	NC_000002.11:g.219679347G>T	VUS	1 lab	db262bb3c7
2:191900873 STAT4 T>C	2	191900873	191900873	T	C	STAT4	c.1570+17A>G	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191900873T>C	(Likely) benign	1 lab	e25b37b5d1
1:198665922 PTPRC G>A	1	198665922	198665922	G	A	PTPRC	c.182G>A	NM_002838.5	NP_002829.3:p.(Ser61Asn)	NC_000001.10:g.198665922G>A	(Likely) benign	1 lab	e25f11efa9
16:2115481 TSC2 C>T	16	2115481	2115481	C	T	TSC2	c.1600-39C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2115481C>T	(Likely) benign	1 lab	e25feb8417
12:67072612 GRIP1 A>C	12	67072612	67072612	A	C	GRIP1	c.55+18T>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.67072612A>C	(Likely) benign	1 lab	e2621f1c0f
13:33635842 KL G>A	13	33635842	33635842	G	A	KL	c.2626G>A	NM_004795.4	NP_004786.2:p.(Asp876Asn)	NC_000013.10:g.33635842G>A	(Likely) benign	1 lab	e2659bf9ea
4:184618683 TRAPPC11 T>A	4	184618683	184618683	T	A	TRAPPC11	c.2656T>A	NM_021942.6	NP_068761.4:p.(Phe886Ile)	NC_000004.11:g.184618683T>A	(Likely) benign	1 lab	e270597c66
15:41341571 INO80 T>C	15	41341571	41341571	T	C	INO80	c.2490A>G	NM_017553.3	NP_060023.1:p.(Pro830=)	NC_000015.9:g.41341571T>C	(Likely) benign	1 lab	e27141c139
1:161192845 APOA2 CCACA>C	1	161192845	161192884	CCACA	C	APOA2	c.53-9_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192881_161192884del	(Likely) benign	1 lab	e27348169f
14:23891466 MYH7 C>G	14	23891466	23891466	C	G	MYH7	c.3168G>C	NM_000257.2	NP_000248.2:p.(Glu1056Asp)	NC_000014.8:g.23891466C>G	VUS	1 lab	e37e74a372
17:41245501 BRCA1 T>C	17	41245501	41245501	T	C	BRCA1	c.2047A>G	NM_007294.3	NP_009225.1:p.(Lys683Glu)	NC_000017.10:g.41245501T>C	(Likely) benign	1 lab	e273538f86
19:34262922 CHST8 C>T	19	34262922	34262922	C	T	CHST8	c.229C>T	NM_022467.3	NP_071912.2:p.(Arg77Trp)	NC_000019.9:g.34262922C>T	(Likely) benign	1 lab	db285ebef1
1:237905471 RYR2 G>T	1	237905471	237905471	G	T	RYR2	c.11092-125G>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237905471G>T	(Likely) benign	1 lab	e2799a7ba7
5:156184786 SGCD G>A	5	156184786	156184786	G	A	SGCD	c.770G>A	NM_172244.3	NP_758447.1:p.(Ter257=)	NC_000005.9:g.156184786G>A	(Likely) benign	1 lab	e27e8bed1e
7:150645617 KCNH2 C>T	7	150645617	150645617	C	T	KCNH2	c.2607G>A	NM_000238.3	NP_000229.1:p.(Pro869=)	NC_000007.13:g.150645617C>T	(Likely) benign	1 lab	e27f5dc2cc
2:168099316 XIRP2 T>C	2	168099316	168099316	T	C	XIRP2	c.1414T>C	NM_152381.6	NP_689594.4:p.(Ser472Pro)	NC_000002.11:g.168099316T>C	(Likely) benign	1 lab	e281145cbd
6:129781360 LAMA2 C>T	6	129781360	129781360	C	T	LAMA2	c.6883C>T	NM_000426.4	NP_000417.3:p.(Arg2295Cys)	NC_000006.11:g.129781360C>T	VUS	1 lab	db286fb9d5
16:1251831 CACNA1H C>T	16	1251831	1251831	C	T	CACNA1H	c.1381C>T	NM_021098.3	NP_066921.2:p.(Leu461=)	NC_000016.9:g.1251831C>T	(Likely) benign	1 lab	e282faab69
9:133756063 ABL1 G>A	9	133756063	133756063	G	A	ABL1	c.1735+12G>A	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133756063G>A	(Likely) benign	1 lab	e2833d8b22
16:1269095 CACNA1H C>T	16	1269095	1269095	C	T	CACNA1H	c.6013C>T	NM_021098.3	NP_066921.2:p.(Arg2005Cys)	NC_000016.9:g.1269095C>T	(Likely) benign	1 lab	e2837b4837
16:1204050 CACNA1H C>G	16	1204050	1204050	C	G	CACNA1H	c.299+14C>G	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1204050C>G	(Likely) benign	1 lab	e288872d33
1:161192331 APOA2 T>G	1	161192331	161192331	T	G	APOA2	c.186-19A>C	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192331T>G	(Likely) benign	1 lab	e28a0bdb9e
9:137623389 COL5A1 C>T	9	137623389	137623389	C	T	COL5A1	c.1212C>T	NM_000093.4	NP_000084.3:p.(Phe404=)	NC_000009.11:g.137623389C>T	(Likely) benign	1 lab	e28e2f812a
10:73115934 SLC29A3 C>T	10	73115934	73115934	C	T	SLC29A3	c.707C>T	NM_018344.6	NP_060814.4:p.(Thr236Met)	NC_000010.10:g.73115934C>T	(Likely) benign	1 lab	e2902c8cd2
16:88500055 ZNF469 G>A	16	88500055	88500055	G	A	ZNF469				NC_000016.9:g.88500055G>A	(Likely) benign	1 lab	28142ea2c6
1:237982663 RYR2 G>A	1	237982663	237982663	G	A	RYR2	c.14590+171G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237982663G>A	(Likely) benign	1 lab	e29384abfa
16:2153265 PKD1 A>T	16	2153265	2153265	A	T	PKD1	c.8791+2T>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2153265A>T	(Likely) pathogenic	1 lab	e2957479a6
7:91852168 KRIT1 TA>T	7	91852168	91852169	TA	T	KRIT1	c.1378del	NM_194454.3	NP_919436.1:p.(Tyr460IlefsTer35)	NC_000007.13:g.91852169del	(Likely) pathogenic	1 lab	e296734f99
20:62324644 RTEL1 G>C	20	62324644	62324644	G	C	RTEL1	c.2323+8G>C	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62324644G>C	(Likely) benign	1 lab	e29d2b73c6
16:3299858 MEFV A>G	16	3299858	3299858	A	G	MEFV	c.911-78T>C	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299858A>G	(Likely) benign	1 lab	e2a0a956fe
10:104417006 TRIM8 C>A	10	104417006	104417006	C	A	TRIM8	c.1551C>A	NM_030912.2	NP_112174.2:p.(Pro517=)	NC_000010.10:g.104417006C>A	(Likely) benign	1 lab	e2a13f5455
11:67817648 TCIRG1 C>T	11	67817648	67817648	C	T	TCIRG1				NC_000011.9:g.67817648C>T	(Likely) benign	1 lab	e2a28ea841
7:135276332 NUP205 C>T	7	135276332	135276332	C	T	NUP205	c.1608C>T	NM_015135.2	NP_055950.1:p.(Val536=)	NC_000007.13:g.135276332C>T	(Likely) benign	1 lab	e2a4de74a2
3:71064766 FOXP1 T>C	3	71064766	71064766	T	C	FOXP1	c.908A>G	NM_032682.6	NP_116071.2:p.(Tyr303Cys)	NC_000003.11:g.71064766T>C	VUS	1 lab	db30874d07
9:130439012 STXBP1 G>A	9	130439012	130439012	G	A	STXBP1	c.1339G>A	NM_003165.6	NP_003156.1:p.(Gly447Ser)	NC_000009.11:g.130439012G>A	(Likely) benign	1 lab	e2a764510d
7:139717526 TBXAS1 G>A	7	139717526	139717526	G	A	TBXAS1	c.1420G>A	NM_001061.7	NP_001052.3:p.(Ala474Thr)	NC_000007.13:g.139717526G>A	(Likely) benign	1 lab	e2a91f6d87
X:153580238 FLNA C>G	X	153580238	153580238	C	G	FLNA	c.6883+14G>C	NM_001456.3	NP_001447.2:p.?	NC_000023.10:g.153580238C>G	(Likely) benign	1 lab	e2abe0c1f9
9:139333236 INPP5E G>T	9	139333236	139333236	G	T	INPP5E	c.636C>A	NM_019892.6	NP_063945.2:p.(Val212=)	NC_000009.11:g.139333236G>T	(Likely) benign	1 lab	e2abedc50a
22:32253668 DEPDC5 C>T	22	32253668	32253668	C	T	DEPDC5	c.3264+129C>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32253668C>T	(Likely) benign	1 lab	e2add96da7
5:38950729 RICTOR T>C	5	38950729	38950729	T	C	RICTOR	c.3221A>G	NM_001285439.2	NP_001272368.1:p.(Asp1074Gly)	NC_000005.9:g.38950729T>C	(Likely) benign	1 lab	e2b203ec07
5:89977083 ADGRV1 T>A	5	89977083	89977083	T	A	ADGRV1	c.5525-49T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89977083T>A	(Likely) benign	1 lab	e2b26e0fcd
5:36976478 NIPBL G>A	5	36976478	36976478	G	A	NIPBL	c.1469G>A	NM_133433.4	NP_597677.2:p.(Arg490His)	NC_000005.9:g.36976478G>A	VUS	1 lab	db30a1f1d4
2:98354139 ZAP70 G>T	2	98354139	98354139	G	T	ZAP70	c.1482+11G>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98354139G>T	(Likely) benign	1 lab	e2ba2d4c90
9:130587546 ENG G>A	9	130587546	130587546	G	A	ENG	c.780C>T	NM_000118.3	NP_000109.1:p.(Ser260=)	NC_000009.11:g.130587546G>A	VUS	1 lab	e2bbfd1e66
1:156104627 LMNA C>T	1	156104627	156104627	C	T	LMNA				NC_000001.10:g.156104627C>T	VUS	1 lab	e2c1f680fa
8:133141779 KCNQ3 C>T	8	133141779	133141779	C	T	KCNQ3	c.2349G>A	NM_004519.4	NP_004510.1:p.(Thr783=)	NC_000008.10:g.133141779C>T	(Likely) benign	1 lab	e2c9be4fa0
9:90585511 CDK20 G>A	9	90585511	90585511	G	A	CDK20	c.535C>T	NM_001039803.2	NP_001034892.1:p.(Arg179Cys)	NC_000009.11:g.90585511G>A	(Likely) benign	1 lab	e2cb068a3e
12:42863262 PRICKLE1 A>G	12	42863262	42863262	A	G	PRICKLE1	c.374T>C	NM_153026.3	NP_694571.2:p.(Val125Ala)	NC_000012.11:g.42863262A>G	(Likely) benign	1 lab	e2d1292e12
X:32717257 DMD A>G	X	32717257	32717257	A	G	DMD	c.434T>C	NM_004010.3	NP_004001.1:p.(Leu145Ser)	NC_000023.10:g.32717257A>G	VUS	1 lab	e2d2fd936d
7:70230273 AUTS2 C>G	7	70230273	70230273	C	G	AUTS2	c.1468+282C>G	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70230273C>G	(Likely) benign	1 lab	e2d8ef4f3b
4:5642400 EVC2 T>C	4	5642400	5642400	T	C	EVC2	c.1311A>G	NM_147127.5	NP_667338.3:p.(Leu437=)	NC_000004.11:g.5642400T>C	(Likely) benign	1 lab	e2e3379752
16:50731097 NOD2 T>C	16	50731097	50731097	T	C	NOD2	c.-58T>C	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50731097T>C	(Likely) benign	1 lab	e2e466e9e8
1:214820419 CENPF A>G	1	214820419	214820419	A	G	CENPF	c.7506A>G	NM_016343.4	NP_057427.3:p.(Ser2502=)	NC_000001.10:g.214820419A>G	(Likely) benign	1 lab	e2ea7af763
10:78944763 KCNMA1 G>A	10	78944763	78944763	G	A	KCNMA1	c.603-89C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78944763G>A	(Likely) benign	1 lab	e2f9a078ee
9:5078290 JAK2 C>T	9	5078290	5078290	C	T	JAK2	c.1993-16C>T	NM_001322194.1	NP_001309123.1:p.?	NC_000009.11:g.5078290C>T	(Likely) benign	1 lab	e2fba74b57
15:51057713 SPPL2A C>T	15	51057713	51057713	C	T	SPPL2A	c.18G>A	NM_032802.4	NP_116191.2:p.(Arg6=)	NC_000015.9:g.51057713C>T	(Likely) benign	1 lab	e2fd093e5c
16:85945204 IRF8 C>T	16	85945204	85945204	C	T	IRF8	c.387C>T	NM_002163.2	NP_002154.1:p.(Cys129=)	NC_000016.9:g.85945204C>T	(Likely) benign	1 lab	e2fd8ce7d3
22:51143261 SHANK3 G>A	22	51143261	51143261	G	A	SHANK3	c.2092G>A	NM_001372044.2	NP_001358973.1:p.(Gly698Arg)	NC_000022.10:g.51143261G>A	VUS	1 lab	db34243312
15:31197941 FAN1 C>T	15	31197941	31197941	C	T	FAN1	c.1075C>T	NM_014967.5	NP_055782.3:p.(Gln359Ter)	NC_000015.9:g.31197941C>T	(Likely) pathogenic	1 lab	e2ffeeb375
16:23392092 SCNN1B C>T	16	23392092	23392092	C	T	SCNN1B	c.1893C>T	NM_000336.3	NP_000327.2:p.(Ile631=)	NC_000016.9:g.23392092C>T	(Likely) benign	1 lab	e3019b8e97
1:57340631 C8A C>A	1	57340631	57340631	C	A	C8A	c.181C>A	NM_000562.2	NP_000553.1:p.(Arg61=)	NC_000001.10:g.57340631C>A	(Likely) benign	1 lab	e302ed2b54
16:2166545 PKD1 C>A	16	2166545	2166545	C	A	PKD1	c.1707G>T	NM_001009944.2	NP_001009944.2:p.(Pro569=)	NC_000016.9:g.2166545C>A	(Likely) benign	1 lab	e3056f099e
15:59455356 MYO1E G>C	15	59455356	59455356	G	C	MYO1E	c.2627C>G	NM_004998.3	NP_004989.2:p.(Thr876Arg)	NC_000015.9:g.59455356G>C	(Likely) benign	1 lab	e3071c1ec3
6:47501391 CD2AP A>G	6	47501391	47501391	A	G	CD2AP	c.219A>G	NM_012120.3	NP_036252.1:p.(Glu73=)	NC_000006.11:g.47501391A>G	(Likely) benign	1 lab	e30756d0d9
1:982969 AGRN G>A	1	982969	982969	G	A	AGRN				NC_000001.10:g.982969G>A	(Likely) benign	1 lab	e30849ce85
14:23890169 MYH7 G>C	14	23890169	23890169	G	C	MYH7	c.3334C>G	NM_000257.2	NP_000248.2:p.(Gln1112Glu)	NC_000014.8:g.23890169G>C	VUS	1 lab	e30a1d3b74
14:102493895 DYNC1H1 G>A	14	102493895	102493895	G	A	DYNC1H1	c.9048+14G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102493895G>A	(Likely) benign	1 lab	e30ad4c850
1:237754226 RYR2 C>T	1	237754226	237754226	C	T	RYR2	c.4094C>T	NM_001035.3	NP_001026.2:p.(Ala1365Val)	NC_000001.10:g.237754226C>T	(Likely) benign	1 lab	e30e3fb021
13:32951003 BRCA2 A>G	13	32951003	32951003	A	G	BRCA2	c.8754+75A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951003A>G	(Likely) benign	1 lab	e31634ddcb
10:21158716 NEBL G>A	10	21158716	21158716	G	A	NEBL	c.535C>T	NM_006393.2	NP_006384.1:p.(Arg179Ter)	NC_000010.10:g.21158716G>A	VUS	1 lab	e31d08a785
1:228452016 OBSCN G>C	1	228452016	228452016	G	C	OBSCN	c.5337G>C	NM_001271223.2	NP_001258152.2:p.(Glu1779Asp)	NC_000001.10:g.228452016G>C	(Likely) benign	1 lab	e3211bf0b6
17:6929890 BCL6B CTTCG>C	17	6929890	6929897	CTTCG	C	BCL6B	c.1008_1011del	NM_181844.4	NP_862827.2:p.(Phe337AlafsTer34)	NC_000017.10:g.6929894_6929897del	VUS	1 lab	db39650a90
16:227130 HBA1 A>T	16	227130	227130	A	T	HBA1	c.298A>T	NM_000558.5	NP_000549.1:p.(Lys100Ter)	NC_000016.9:g.227130A>T	(Likely) pathogenic	1 lab	e3269ae155
20:2844614 VPS16 C>T	20	2844614	2844614	C	T	VPS16	c.1496C>T	NM_022575.4	NP_072097.2:p.(Ser499Leu)	NC_000020.10:g.2844614C>T	VUS	1 lab	db3a50a075
17:44145006 KANSL1 T>C	17	44145006	44145006	T	C	KANSL1	c.1561A>G	NM_001193466.2	NP_001180395.1:p.(Asn521Asp)	NC_000017.10:g.44145006T>C	VUS	1 lab	db3acb005e
6:87965370 ZNF292 C>A	6	87965370	87965370	C	A	ZNF292	c.2023C>A	NM_015021.3	NP_055836.1:p.(Pro675Thr)	NC_000006.11:g.87965370C>A	VUS	1 lab	db3f61bd5f
13:73293249 MZT1 C>CAA	13	73293249	73293263	C	CAA	MZT1	c.80-16_80-15dup	NM_001071775.3	NP_001065243.1:p.?	NC_000013.10:g.73293262_73293263dup	(Likely) benign	1 lab	e334739234
9:137710680 COL5A1 T>TGCC	9	137710680	137710681	T	TGCC	COL5A1	c.4339-14_4339-13insGCC	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137710680_137710681insGCC	(Likely) benign	1 lab	e3349c334e
1:247588182 NLRP3 C>A	1	247588182	247588182	C	A	NLRP3	c.1431C>A	NM_001243133.2	NP_001230062.1:p.(Asn477Lys)	NC_000001.10:g.247588182C>A	(Likely) pathogenic	1 lab	e336e7c2a7
12:111885162 SH2B3 G>A	12	111885162	111885162	G	A	SH2B3	c.1050G>A	NM_005475.2	NP_005466.1:p.(Pro350=)	NC_000012.11:g.111885162G>A	(Likely) benign	1 lab	e33a51b4bf
14:65230748 SPTB A>G	14	65230748	65230748	A	G	SPTB	c.6345+2696T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65230748A>G	(Likely) benign	1 lab	e33fe92534
5:35876446 IL7R G>A	5	35876446	35876446	G	A	IL7R				NC_000005.9:g.35876446G>A	(Likely) benign	1 lab	e8b324cb82
2:131356365 CFC1 C>T	2	131356365	131356365	C	T	CFC1	c.97G>A	NM_032545.3	NP_115934.1:p.(Gly33Ser)	NC_000002.11:g.131356365C>T	VUS	1 lab	e340d6b095
12:111757851 CUX2 G>A	12	111757851	111757851	G	A	CUX2	c.2038G>A	NM_015267.4	NP_056082.2:p.(Ala680Thr)	NC_000012.11:g.111757851G>A	(Likely) benign	1 lab	e342625817
10:121436169 BAG3 C>T	10	121436169	121436169	C	T	BAG3	c.1103C>T	NM_004281.3	NP_004272.2:p.(Pro368Leu)	NC_000010.10:g.121436169C>T	VUS	1 lab	e343989388
21:45712272 AIRE C>T	21	45712272	45712272	C	T	AIRE				NC_000021.8:g.45712272C>T	(Likely) benign	1 lab	e343b5a694
16:2156685 PKD1 G>A	16	2156685	2156685	G	A	PKD1	c.7210-7C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156685G>A	(Likely) benign	1 lab	e34a6b885b
16:227306 HBA1 AC>A	16	227306	227309	AC	A	HBA1	c.328del	NM_000558.5	NP_000549.1:p.(Leu110TrpfsTer24)	NC_000016.9:g.227309del	(Likely) pathogenic	1 lab	e34d09d738
16:1268046 CACNA1H C>T	16	1268046	1268046	C	T	CACNA1H	c.5445+6C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1268046C>T	(Likely) benign	1 lab	e34f2ce7aa
4:515503 PIGG C>G	4	515503	515503	C	G	PIGG	c.1387C>G	NM_001127178.3	NP_001120650.1:p.(Leu463Val)	NC_000004.11:g.515503C>G	(Likely) benign	1 lab	e3504a5421
6:7580589 DSP G>A	6	7580589	7580589	G	A	DSP	c.4166G>A	NM_004415.2	NP_004406.2:p.(Ser1389Asn)	NC_000006.11:g.7580589G>A	VUS	1 lab	e3b6d7062c
13:37573393 ALG5 C>T	13	37573393	37573393	C	T	ALG5	c.45G>A	NM_013338.5	NP_037470.1:p.(Leu15=)	NC_000013.10:g.37573393C>T	(Likely) benign	1 lab	e3554dd7d4
3:71101719 FOXP1 TGTA>T	3	71101719	71101722	TGTA	T	FOXP1	c.476_478del	NM_032682.6	NP_116071.2:p.(Leu159Ter)	NC_000003.11:g.71101720_71101722del	(Likely) pathogenic	1 lab	db4446edbc
X:154134739 F8 G>A	X	154134739	154134739	G	A	F8	c.5329C>T	NM_000132.3	NP_000123.1:p.(Leu1777Phe)	NC_000023.10:g.154134739G>A	(Likely) pathogenic	1 lab	e356a7e9ca
1:7993312 TNFRSF9 T>C	1	7993312	7993312	T	C	TNFRSF9	c.589A>G	NM_001561.6	NP_001552.2:p.(Thr197Ala)	NC_000001.10:g.7993312T>C	(Likely) benign	1 lab	e358c436dc
10:78704595 KCNMA1 C>T	10	78704595	78704595	C	T	KCNMA1	c.2685G>A	NM_001322830.2	NP_001309759.1:p.(Ala895=)	NC_000010.10:g.78704595C>T	(Likely) benign	1 lab	e35af65c40
7:35289756 TBX20 C>T	7	35289756	35289756	C	T	TBX20	c.187G>A	NM_001077653.2	NP_001071121.1:p.(Ala63Thr)	NC_000007.13:g.35289756C>T	(Likely) benign	1 lab	e35d872f0b
12:103240713 PAH G>A	12	103240713	103240713	G	A	PAH	c.929C>T	NM_000277.3	NP_000268.1:p.(Ser310Phe)	NC_000012.11:g.103240713G>A	(Likely) pathogenic	1 lab	e3609ee7ad
13:46725147 LCP1 A>G	13	46725147	46725147	A	G	LCP1	c.806T>C	NM_002298.5	NP_002289.2:p.(Leu269Pro)	NC_000013.10:g.46725147A>G	(Likely) pathogenic	1 lab	e361b6d1e1
9:140850222 CACNA1B C>G	9	140850222	140850222	C	G	CACNA1B	c.1143C>G	NM_000718.4	NP_000709.1:p.(Ile381Met)	NC_000009.11:g.140850222C>G	VUS	1 lab	db47299e33
15:93540768 CHD2 A>G	15	93540768	93540768	A	G	CHD2	c.3885+135A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93540768A>G	(Likely) benign	1 lab	e369f00882
11:57379230 SERPING1 T>G	11	57379230	57379230	T	G	SERPING1	c.1070T>G	NM_000062.2	NP_000053.2:p.(Ile357Ser)	NC_000011.9:g.57379230T>G	VUS	1 lab	e37ed7a0cc
22:51065365 ARSA G>C	22	51065365	51065365	G	C	ARSA	c.581C>G	NM_000487.6	NP_000478.3:p.(Pro194Arg)	NC_000022.10:g.51065365G>C	VUS	1 lab	e38243de8a
17:42428843 GRN C>G	17	42428843	42428843	C	G	GRN	c.933+15C>G	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428843C>G	VUS	1 lab	e38854fe80
X:13778747 OFD1 C>T	X	13778747	13778747	C	T	OFD1	c.2168C>T	NM_003611.3	NP_003602.1:p.(Ser723Leu)	NC_000023.10:g.13778747C>T	VUS	1 lab	db4d96c05a
12:49432105 KMT2D G>A	12	49432105	49432105	G	A	KMT2D	c.9034C>T	NM_003482.3	NP_003473.3:p.(Leu3012=)	NC_000012.11:g.49432105G>A	(Likely) benign	1 lab	e38c8c213a
7:94039079 COL1A2 C>T	7	94039079	94039079	C	T	COL1A2	c.981C>T	NM_000089.3	NP_000080.2:p.(Arg327=)	NC_000007.13:g.94039079C>T	(Likely) benign	1 lab	e38db4fa50
14:105181062 INF2 C>T	14	105181062	105181062	C	T	INF2	c.3563C>T	NM_022489.3	NP_071934.3:p.(Ser1188Phe)	NC_000014.8:g.105181062C>T	(Likely) benign	1 lab	e3919301f9
4:57906986 IGFBP7 A>T	4	57906986	57906986	A	T	IGFBP7	c.585+4T>A	NM_001553.3	NP_001544.1:p.?	NC_000004.11:g.57906986A>T	(Likely) benign	1 lab	db51c3e6de
19:39214633 ACTN4 C>T	19	39214633	39214633	C	T	ACTN4	c.1608C>T	NM_004924.6	NP_004915.2:p.(Arg536=)	NC_000019.9:g.39214633C>T	(Likely) benign	1 lab	e3991fb98a
5:45396575 HCN1 G>A	5	45396575	45396575	G	A	HCN1	c.1230+19C>T	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45396575G>A	(Likely) benign	1 lab	e3a3251d96
16:5127555 ALG1 C>T	16	5127555	5127555	C	T	ALG1	c.629+20C>T	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5127555C>T	(Likely) benign	1 lab	e3a5451bae
15:82530786 EFL1 A>G	15	82530786	82530786	A	G	EFL1	c.593T>C	NM_024580.6	NP_078856.4:p.(Val198Ala)	NC_000015.9:g.82530786A>G	(Likely) benign	1 lab	e3a7e34d8d
2:31590808 XDH C>A	2	31590808	31590808	C	A	XDH	c.2197+19G>T	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31590808C>A	(Likely) benign	1 lab	e3a92abac8
12:6439066 TNFRSF1A C>T	12	6439066	6439066	C	T	TNFRSF1A	c.935G>A	NM_001065.3	NP_001056.1:p.(Arg312Lys)	NC_000012.11:g.6439066C>T	(Likely) benign	1 lab	e3ac5928c6
10:64957287 JMJD1C C>T	10	64957287	64957287	C	T	JMJD1C	c.5528G>A	NM_032776.3	NP_116165.1:p.(Arg1843Gln)	NC_000010.10:g.64957287C>T	VUS	1 lab	db53c61b85
16:16308284 ABCC6 C>A	16	16308284	16308284	C	A	ABCC6	c.497G>T	NM_001171.6	NP_001162.5:p.(Arg166Leu)	NC_000016.9:g.16308284C>A	VUS	1 lab	db5610eb62
19:6702022 C3 G>T	19	6702022	6702022	G	T	C3	c.2440+116C>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6702022G>T	(Likely) benign	1 lab	e3b2824245
4:84194741 COQ2 G>A	4	84194741	84194741	G	A	COQ2	c.600C>T	NM_015697.8	NP_056512.5:p.(Ala200=)	NC_000004.11:g.84194741G>A	(Likely) benign	1 lab	e3b392b37e
9:111674716 ELP1 G>T	9	111674716	111674716	G	T	ELP1	c.1017C>A	NM_003640.3	NP_003631.2:p.(Ser339Arg)	NC_000009.11:g.111674716G>T	(Likely) benign	1 lab	e3b3d8767e
22:21062359 PI4KA G>C	22	21062359	21062359	G	C	PI4KA	c.6285C>G	NM_058004.4	NP_477352.3:p.(Tyr2095Ter)	NC_000022.10:g.21062359G>C	VUS	1 lab	db5642c1de
12:6442975 TNFRSF1A A>G	12	6442975	6442975	A	G	TNFRSF1A	c.250T>C	NM_001065.3	NP_001056.1:p.(Cys84Arg)	NC_000012.11:g.6442975A>G	(Likely) pathogenic	1 lab	e3b94a47a7
15:25684129 UBE3A G>T	15	25684129	25684129	G	T	UBE3A	c.-714C>A	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25684129G>T	(Likely) benign	1 lab	e3b9d66c9c
12:52093584 SCN8A C>T	12	52093584	52093584	C	T	SCN8A	c.928+9C>T	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52093584C>T	(Likely) benign	1 lab	e3bbf7ab95
22:45689117 UPK3A C>T	22	45689117	45689117	C	T	UPK3A	c.627C>T	NM_006953.4	NP_008884.1:p.(Ile209=)	NC_000022.10:g.45689117C>T	(Likely) benign	1 lab	e3bc577a81
2:179588426 TTN A>G	2	179588426	179588426	A	G	TTN	c.21404-3T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179588426A>G	(Likely) benign	1 lab	e3c283db70
2:136690425 DARS1 A>G	2	136690425	136690425	A	G	DARS1	c.505-13T>C	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136690425A>G	(Likely) benign	1 lab	e3c5e75ecb
10:21158762 NEBL A>G	10	21158762	21158762	A	G	NEBL	c.489T>C	NM_006393.2	NP_006384.1:p.(Tyr163=)	NC_000010.10:g.21158762A>G	(Likely) benign	1 lab	e3c607ed31
8:145700419 FOXH1 C>T	8	145700419	145700419	C	T	FOXH1	c.300G>A	NM_003923.3	NP_003914.1:p.(Lys100=)	NC_000008.10:g.145700419C>T	(Likely) benign	1 lab	e3c6529e49
6:33405496 SYNGAP1 C>T	6	33405496	33405496	C	T	SYNGAP1	c.814C>T	NM_006772.3	NP_006763.2:p.(Arg272Trp)	NC_000006.11:g.33405496C>T	VUS	1 lab	db5835130f
6:121768892 GJA1 A>G	6	121768892	121768892	A	G	GJA1	c.899A>G	NM_000165.5	NP_000156.1:p.(Asn300Ser)	NC_000006.11:g.121768892A>G	VUS	1 lab	e3ce737b78
10:21147213 NEBL A>AC	10	21147213	21147214	A	AC	NEBL	c.858dup	NM_006393.2	NP_006384.1:p.(Leu287ValfsTer19)	NC_000010.10:g.21147214dup	VUS	1 lab	e3d384137d
15:77320181 PSTPIP1 T>C	15	77320181	77320181	T	C	PSTPIP1	c.355-12T>C	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77320181T>C	(Likely) benign	1 lab	e3d4817e0b
13:51508967 RNASEH2B T>G	13	51508967	51508967	T	G	RNASEH2B	c.322-54T>G	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51508967T>G	(Likely) benign	1 lab	e3d9a79ba5
12:110032878 MVK G>C	12	110032878	110032878	G	C	MVK	c.931G>C	NM_000431.2	NP_000422.1:p.(Gly311Arg)	NC_000012.11:g.110032878G>C	(Likely) pathogenic	1 lab	e3d9c6005e
20:62292793 RTEL1 C>T	20	62292793	62292793	C	T	RTEL1	c.245C>T	NM_001283009.2	NP_001269938.1:p.(Pro82Leu)	NC_000020.10:g.62292793C>T	(Likely) benign	1 lab	e3e0be543e
X:53621497 HUWE1 T>C	X	53621497	53621497	T	C	HUWE1	c.3465A>G	NM_031407.7	NP_113584.3:p.(Gln1155=)	NC_000023.10:g.53621497T>C	(Likely) benign	1 lab	e3e2f4fcde
2:179425987 TTN C>T	2	179425987	179425987	C	T	TTN	c.58052G>A	NM_133432.3	NP_597676.3:p.(Arg19351His)	NC_000002.11:g.179425987C>T	VUS	1 lab	e3e870c3b2
2:179421613 TTN G>A	2	179421613	179421613	G	A	TTN	c.61448C>T	NM_133432.3	NP_597676.3:p.(Ser20483Phe)	NC_000002.11:g.179421613G>A	VUS	1 lab	e3ef8e5e6f
X:152864477 CCNQ G>GC	X	152864477	152864480	G	GC	CCNQ	c.53_55=	NM_152274.5	NP_689487.2:p.(Gly18_Gln19=)	NC_000023.10:g.152864480dup	(Likely) benign	1 lab	db5bea94ce
18:2927829 LPIN2 G>A	18	2927829	2927829	G	A	LPIN2	c.1621-20C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2927829G>A	(Likely) benign	1 lab	e3f250e085
X:32381032 DMD G>A	X	32381032	32381032	G	A	DMD	c.5198C>T	NM_004006.2	NP_003997.1:p.(Ser1733Phe)	NC_000023.10:g.32381032G>A	VUS	1 lab	e3f28df648
11:838118 CD151 C>T	11	838118	838118	C	T	CD151	c.703-15C>T	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.838118C>T	(Likely) benign	1 lab	e3f4a5a7fa
6:151726371 RMND1 C>T	6	151726371	151726371	C	T	RMND1	c.1349G>A	NM_017909.4	NP_060379.2:p.(Ter450=)	NC_000006.11:g.151726371C>T	(Likely) benign	1 lab	e3fa4cdbea
6:39869101 DAAM2 C>T	6	39869101	39869101	C	T	DAAM2	c.2835C>T	NM_001201427.2	NP_001188356.1:p.(Phe945=)	NC_000006.11:g.39869101C>T	(Likely) benign	1 lab	e3fc6fff6e
10:81926626 ANXA11 G>T	10	81926626	81926626	G	T	ANXA11	c.744+20C>A	NM_001157.3	NP_001148.1:p.?	NC_000010.10:g.81926626G>T	(Likely) benign	1 lab	e3fc99c5e1
20:408244 RBCK1 G>A	20	408244	408244	G	A	RBCK1	c.1209+108G>A	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.408244G>A	(Likely) benign	1 lab	e3fcf1a997
X:55051257 ALAS2 C>T	X	55051257	55051257	C	T	ALAS2	c.198G>A	NM_000032.5	NP_000023.2:p.(Ala66=)	NC_000023.10:g.55051257C>T	(Likely) benign	1 lab	e3fea3bd96
4:187629951 FAT1 G>A	4	187629951	187629951	G	A	FAT1	c.1031C>T	NM_005245.4	NP_005236.2:p.(Pro344Leu)	NC_000004.11:g.187629951G>A	VUS	1 lab	e403a13188
14:23902931 MYH7 G>A	14	23902931	23902931	G	A	MYH7	c.11C>T	NM_000257.4	NP_000248.2:p.(Ser4Leu)	NC_000014.8:g.23902931G>A	VUS	1 lab	db5c44669f
14:92563254 ATXN3 A>AT	14	92563254	92563269	A	AT	ATXN3	c.25-73dup	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92563269dup	(Likely) benign	1 lab	e408518abb
2:179478808 TTN GC>G	2	179478808	179478810	GC	G	TTN	c.49315del	NM_001267550.2	NP_001254479.2:p.(Ala16439ProfsTer4)	NC_000002.11:g.179478810del	(Likely) pathogenic	1 lab	db5de103b4
5:161569091 GABRG2 C>T	5	161569091	161569091	C	T	GABRG2				NC_000005.9:g.161569091C>T	(Likely) benign	1 lab	e40bf49cd4
1:16376232 CLCNKB A>T	1	16376232	16376232	A	T	CLCNKB	c.866+35A>T	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16376232A>T	(Likely) benign	1 lab	e40e50ba7a
1:204125464 REN TCAGA>T	1	204125464	204125492	TCAGA	T	REN	c.819-21_819-18del	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204125489_204125492del	(Likely) benign	1 lab	e413ff4fcf
11:33739013 CD59 A>G	11	33739013	33739013	A	G	CD59	c.72T>C	NM_001127223.1	NP_001120695.1:p.(His24=)	NC_000011.9:g.33739013A>G	(Likely) benign	1 lab	e4166950a9
X:100613314 BTK A>C	X	100613314	100613314	A	C	BTK	c.1086T>G	NM_000061.2	NP_000052.1:p.(His362Gln)	NC_000023.10:g.100613314A>C	(Likely) pathogenic	1 lab	e41773a74c
17:54939528 DGKE T>C	17	54939528	54939528	T	C	DGKE	c.1440T>C	NM_003647.3	NP_003638.1:p.(Val480=)	NC_000017.10:g.54939528T>C	(Likely) benign	1 lab	e41fb529c2
12:103237509 PAH T>A	12	103237509	103237509	T	A	PAH	c.1114A>T	NM_000277.3	NP_000268.1:p.(Thr372Ser)	NC_000012.11:g.103237509T>A	(Likely) pathogenic	1 lab	e4216ebb48
1:120458472 NOTCH2 C>T	1	120458472	120458472	C	T	NOTCH2	c.6873G>A	NM_024408.4	NP_077719.2:p.(Gly2291=)	NC_000001.10:g.120458472C>T	(Likely) benign	1 lab	e422bd9076
18:2921016 LPIN2 C>A	18	2921016	2921016	C	A	LPIN2	c.2443-137G>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2921016C>A	(Likely) benign	1 lab	e429075b42
19:6695991 C3 C>T	19	6695991	6695991	C	T	C3	c.2950+399G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6695991C>T	(Likely) benign	1 lab	e42ac7d992
7:2578197 BRAT1 C>T	7	2578197	2578197	C	T	BRAT1	c.1972G>A	NM_152743.4	NP_689956.2:p.(Ala658Thr)	NC_000007.13:g.2578197C>T	VUS	1 lab	e42bf4fa15
2:166237768 SCN2A G>A	2	166237768	166237768	G	A	SCN2A	c.4551+61G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166237768G>A	(Likely) benign	1 lab	e42d8f587c
12:110013806 MVK G>A	12	110013806	110013806	G	A	MVK	c.82G>A	NM_000431.2	NP_000422.1:p.(Ala28Thr)	NC_000012.11:g.110013806G>A	(Likely) pathogenic	1 lab	e43046c83c
5:90046536 ADGRV1 A>G	5	90046536	90046536	A	G	ADGRV1	c.11121+22A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90046536A>G	(Likely) benign	1 lab	e432525dad
10:64966360 JMJD1C C>T	10	64966360	64966360	C	T	JMJD1C	c.5069G>A	NM_032776.3	NP_116165.1:p.(Ser1690Asn)	NC_000010.10:g.64966360C>T	(Likely) benign	1 lab	db62a7b82f
19:13373651 CACNA1A T>C	19	13373651	13373651	T	C	CACNA1A	c.4002-4A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13373651T>C	(Likely) benign	1 lab	e448bce27d
7:123672456 TMEM229A CGCT>C	7	123672456	123672484	CGCT	C	TMEM229A	c.599_601del	NM_001136002.2	NP_001129474.1:p.(Gln200del)	NC_000007.13:g.123672482_123672484del	(Likely) benign	1 lab	e44c5eadf9
1:160098873 ATP1A2 G>T	1	160098873	160098873	G	T	ATP1A2				NC_000001.10:g.160098873G>T	(Likely) benign	1 lab	e458350031
6:85473644 TBX18 C>CCGGCCCAGACGT	6	85473644	85473658	C	CCGGCCCAGACGT	TBX18	c.244_255dup	NM_001080508.3	NP_001073977.1:p.(Thr82_Pro85dup)	NC_000006.11:g.85473647_85473658dup	(Likely) benign	1 lab	e45a566324
11:64572604 MEN1 C>T	11	64572604	64572604	C	T	MEN1	c.1267G>A	NM_000244.3	NP_000235.2:p.(Asp423Asn)	NC_000011.9:g.64572604C>T	(Likely) pathogenic	1 lab	e4618d83df
12:6442989 TNFRSF1A G>A	12	6442989	6442989	G	A	TNFRSF1A	c.236C>T	NM_001065.3	NP_001056.1:p.(Thr79Met)	NC_000012.11:g.6442989G>A	(Likely) pathogenic	1 lab	e461d01e96
8:28574380 EXTL3 G>A	8	28574380	28574380	G	A	EXTL3	c.804G>A	NM_001440.4	NP_001431.1:p.(Thr268=)	NC_000008.10:g.28574380G>A	(Likely) benign	1 lab	e466fa5219
12:53822670 AMHR2 G>A	12	53822670	53822670	G	A	AMHR2	c.853-10G>A	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53822670G>A	(Likely) benign	1 lab	e46f60d209
13:32911143 BRCA2 C>A	13	32911143	32911143	C	A	BRCA2	c.2651C>A	NM_000059.4	NP_000050.3:p.(Ser884Ter)	NC_000013.10:g.32911143C>A	(Likely) pathogenic	1 lab	db63609c63
13:52511697 ATP7B G>A	13	52511697	52511697	G	A	ATP7B	c.3818C>T	NM_000053.4	NP_000044.2:p.(Pro1273Leu)	NC_000013.10:g.52511697G>A	(Likely) pathogenic	1 lab	e4721fbce6
7:81964580 CACNA2D1 A>G	7	81964580	81964580	A	G	CACNA2D1	c.178-13T>C	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81964580A>G	(Likely) benign	1 lab	e4a7b9c695
2:179659976 TTN G>A	2	179659976	179659976	G	A	TTN	c.918C>T	NM_001267550.1	NP_001254479.1:p.(Ser306=)	NC_000002.11:g.179659976G>A	(Likely) benign	1 lab	e474110559
1:33252687 YARS1 T>C	1	33252687	33252687	T	C	YARS1	c.685-11A>G	NM_003680.3	NP_003671.1:p.?	NC_000001.10:g.33252687T>C	(Likely) benign	1 lab	e47423d9e6
12:52309918 ACVRL1 G>T	12	52309918	52309918	G	T	ACVRL1	c.1147G>T	NM_000020.2	NP_000011.2:p.(Glu383Ter)	NC_000012.11:g.52309918G>T	VUS	1 lab	e478666877
5:11199788 CTNND2 G>A	5	11199788	11199788	G	A	CTNND2	c.1762-15C>T	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11199788G>A	(Likely) benign	1 lab	e478bc9a30
17:40849901 CNTNAP1 TG>T	17	40849901	40849903	TG	T	CNTNAP1	c.3815-18del	NM_003632.3	NP_003623.1:p.?	NC_000017.10:g.40849903del	(Likely) benign	1 lab	e47969f9ad
2:109399301 RANBP2 C>T	2	109399301	109399301	C	T	RANBP2	c.9352C>T	NM_006267.5	NP_006258.3:p.(Pro3118Ser)	NC_000002.11:g.109399301C>T	VUS	1 lab	db63dff709
19:38964223 RYR1 G>A	19	38964223	38964223	G	A	RYR1	c.3972G>A	NM_000540.2	NP_000531.2:p.(Ala1324=)	NC_000019.9:g.38964223G>A	(Likely) benign	1 lab	e47e8da235
17:75484845 SEPTIN9 C>T	17	75484845	75484845	C	T	SEPTIN9	c.1107C>T	NM_006640.4	NP_006631.2:p.(Tyr369=)	NC_000017.10:g.75484845C>T	(Likely) benign	1 lab	e483ed3486
14:92537354 ATXN3 C>G	14	92537354	92537354	C	G	ATXN3	c.916G>C	NM_004993.6	NP_004984.2:p.(Gly306Arg)	NC_000014.8:g.92537354C>G	(Likely) benign	1 lab	e486347c0f
2:44170849 LRPPRC T>C	2	44170849	44170849	T	C	LRPPRC	c.2481A>G	NM_133259.4	NP_573566.2:p.(Pro827=)	NC_000002.11:g.44170849T>C	(Likely) benign	1 lab	db66f78edf
20:36431460 CTNNBL1 A>C	20	36431460	36431460	A	C	CTNNBL1	c.1132+10A>C	NM_001281495.1	NP_001268424.1:p.?	NC_000020.10:g.36431460A>C	(Likely) benign	1 lab	e48b26d7ae
10:27031522 PDSS1 T>TA	10	27031522	27031530	T	TA	PDSS1	c.1107+24dup	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27031530dup	(Likely) benign	1 lab	e493211b2f
7:77797349 MAGI2 T>A	7	77797349	77797349	T	A	MAGI2	c.2480A>T	NM_012301.4	NP_036433.2:p.(Tyr827Phe)	NC_000007.13:g.77797349T>A	(Likely) benign	1 lab	e4932d3818
6:52880875 CILK1 GA>G	6	52880875	52880879	GA	G	CILK1	c.831+5del	NM_014920.5	NP_055735.1:p.?	NC_000006.11:g.52880879del	(Likely) benign	1 lab	e4949a1774
9:37436755 GRHPR G>A	9	37436755	37436755	G	A	GRHPR	c.963G>A	NM_012203.2	NP_036335.1:p.(Pro321=)	NC_000009.11:g.37436755G>A	(Likely) benign	1 lab	e49892d805
22:17669211 ADA2 C>T	22	17669211	17669211	C	T	ADA2	c.1081+18G>A	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17669211C>T	(Likely) benign	1 lab	e499ef5ac3
22:29107997 CHEK2 C>T	22	29107997	29107997	C	T	CHEK2	c.692G>A	NM_007194.4	NP_009125.1:p.(Cys231Tyr)	NC_000022.10:g.29107997C>T	VUS	1 lab	e49e54c88f
5:127782033 FBN2 T>G	5	127782033	127782033	T	G	FBN2	c.952+141A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782033T>G	(Likely) benign	1 lab	e4a094280a
11:46921466 LRP4 C>T	11	46921466	46921466	C	T	LRP4	c.378G>A	NM_002334.3	NP_002325.2:p.(Leu126=)	NC_000011.9:g.46921466C>T	(Likely) benign	1 lab	e4a0e0e72b
2:179634566 TTN C>A	2	179634566	179634566	C	A	TTN	c.8742G>T	NM_001267550.1	NP_001254479.1:p.(Trp2914Cys)	NC_000002.11:g.179634566C>A	VUS	1 lab	e4a13bae5f
2:26505858 HADHB A>G	2	26505858	26505858	A	G	HADHB	c.1014-14A>G	NM_000183.3	NP_000174.1:p.?	NC_000002.11:g.26505858A>G	(Likely) benign	1 lab	db68cae57f
16:89355034 ANKRD11 C>T	16	89355034	89355034	C	T	ANKRD11	c.646G>A	NM_001256182.2	NP_001243111.1:p.(Val216Ile)	NC_000016.9:g.89355034C>T	(Likely) benign	1 lab	e4aae56f26
7:128477696 FLNC G>A	7	128477696	128477696	G	A	FLNC	c.856G>A	NM_001458.4	NP_001449.3:p.(Glu286Lys)	NC_000007.13:g.128477696G>A	VUS	1 lab	e4ab8b35dd
16:15817991 MYH11 G>C	16	15817991	15817991	G	C	MYH11	c.4386+27C>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15817991G>C	(Likely) benign	1 lab	e4ac2d08b7
5:147473974 SPINK5 G>T	5	147473974	147473974	G	T	SPINK5	c.724G>T	NM_001127698.2	NP_001121170.1:p.(Glu242Ter)	NC_000005.9:g.147473974G>T	(Likely) pathogenic	1 lab	e4ac35a97a
16:49671177 ZNF423 T>C	16	49671177	49671177	T	C	ZNF423	c.1886A>G	NM_015069.4	NP_055884.2:p.(Asn629Ser)	NC_000016.9:g.49671177T>C	(Likely) benign	1 lab	e4add78627
12:46244361 ARID2 C>T	12	46244361	46244361	C	T	ARID2	c.2455C>T	NM_152641.4	NP_689854.2:p.(Gln819Ter)	NC_000012.11:g.46244361C>T	(Likely) pathogenic	1 lab	e4b2203bf9
16:15880797 MYH11 C>A	16	15880797	15880797	C	A	MYH11	c.531-208G>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15880797C>A	(Likely) benign	1 lab	e4b230d130
19:14865749 ADGRE2 C>G	19	14865749	14865749	C	G	ADGRE2	c.1590+17G>C	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14865749C>G	(Likely) benign	1 lab	e4b2c88143
10:104679512 CNNM2 C>T	10	104679512	104679512	C	T	CNNM2	c.1275C>T	NM_017649.5	NP_060119.3:p.(Asn425=)	NC_000010.10:g.104679512C>T	(Likely) benign	1 lab	e4b4314de6
14:67626314 GPHN CA>C	14	67626314	67626323	CA	C	GPHN	c.1910+118del	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67626323del	(Likely) benign	1 lab	e4b9a9e41d
X:65423340 HEPH A>C	X	65423340	65423340	A	C	HEPH	c.2374A>C	NM_138737.5	NP_620074.3:p.(Met792Leu)	NC_000023.10:g.65423340A>C	(Likely) benign	1 lab	db6e9d0de0
16:81941393 PLCG2 C>G	16	81941393	81941393	C	G	PLCG2	c.1557+14C>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81941393C>G	(Likely) benign	1 lab	e4bf783f1f
11:111708307 ALG9 T>C	11	111708307	111708307	T	C	ALG9	c.1356A>G	NM_024740.2	NP_079016.2:p.(Glu452=)	NC_000011.9:g.111708307T>C	(Likely) benign	1 lab	e4caa80c96
2:179402590 TTN C>T	2	179402590	179402590	C	T	TTN	c.91640G>A	NM_133378.4	NP_596869.4:p.(Gly30547Asp)	NC_000002.11:g.179402590C>T	VUS	1 lab	db6eb8eded
11:64502708 RASGRP2 C>T	11	64502708	64502708	C	T	RASGRP2	c.1297-9G>A	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64502708C>T	(Likely) benign	1 lab	e4d51d260d
1:233122016 PCNX2 A>G	1	233122016	233122016	A	G	PCNX2	c.6062T>C	NM_014801.4	NP_055616.3:p.(Leu2021Pro)	NC_000001.10:g.233122016A>G	(Likely) benign	1 lab	e4d55a6569
12:110034318 MVK G>T	12	110034318	110034318	G	T	MVK	c.1127G>T	NM_000431.2	NP_000422.1:p.(Gly376Val)	NC_000012.11:g.110034318G>T	(Likely) pathogenic	1 lab	e4d5e5ebc1
9:711869 KANK1 G>A	9	711869	711869	G	A	KANK1	c.1103G>A	NM_015158.4	NP_055973.2:p.(Arg368Gln)	NC_000009.11:g.711869G>A	(Likely) benign	1 lab	e4d90c5de2
20:60893596 LAMA5 G>A	20	60893596	60893596	G	A	LAMA5	c.7153C>T	NM_005560.4	NP_005551.3:p.(Arg2385Ter)	NC_000020.10:g.60893596G>A	(Likely) pathogenic	1 lab	e4dc9cc861
2:166221957 SCN2A T>TTG	2	166221957	166221959	T	TTG	SCN2A	c.3520+185_3520+186dup	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166221958_166221959dup	(Likely) benign	1 lab	e4e47ae4e0
7:128494132 FLNC CG>C	7	128494132	128494136	CG	C	FLNC	c.6593del	NM_001458.5	NP_001449.3:p.(Gly2198AlafsTer53)	NC_000007.13:g.128494136del	(Likely) pathogenic	1 lab	e4e65ca9d1
12:6441166 TNFRSF1A CAA>C	12	6441166	6441190	CAA	C	TNFRSF1A	c.551+1067_551+1068del	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6441189_6441190del	(Likely) benign	1 lab	e4ec2eafa7
2:169830251 ABCB11 G>A	2	169830251	169830251	G	A	ABCB11	c.1408C>T	NM_003742.4	NP_003733.2:p.(Arg470Ter)	NC_000002.11:g.169830251G>A	(Likely) pathogenic	1 lab	e4ec85fd56
8:2024336 MYOM2 C>G	8	2024336	2024336	C	G	MYOM2	c.1236C>G	NM_003970.4	NP_003961.3:p.(Ser412Arg)	NC_000008.10:g.2024336C>G	VUS	1 lab	db6f9a904d
X:152959970 SLC6A8 C>T	X	152959970	152959970	C	T	SLC6A8	c.1496-18C>T	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152959970C>T	(Likely) benign	1 lab	db704ef9c1
3:38629055 SCN5A C>G	3	38629055	38629055	C	G	SCN5A	c.2272G>C	NM_001099404.1	NP_001092874.1:p.(Gly758Arg)	NC_000003.11:g.38629055C>G	VUS	1 lab	e4ee788506
11:118918649 HYOU1 G>A	11	118918649	118918649	G	A	HYOU1	c.2510+10C>T	NM_006389.5	NP_006380.1:p.?	NC_000011.9:g.118918649G>A	(Likely) benign	1 lab	e4f2e78f17
16:1265393 CACNA1H C>T	16	1265393	1265393	C	T	CACNA1H	c.5173+18C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1265393C>T	(Likely) benign	1 lab	e4f4446939
1:155261702 PKLR C>T	1	155261702	155261702	C	T	PKLR	c.1463G>A	NM_000298.6	NP_000289.1:p.(Arg488Gln)	NC_000001.10:g.155261702C>T	VUS	1 lab	e4f456732e
2:88387524 SMYD1 C>T	2	88387524	88387524	C	T	SMYD1	c.458C>T	NM_198274.4	NP_938015.1:p.(Thr153Ile)	NC_000002.11:g.88387524C>T	(Likely) benign	1 lab	e4f9a99044
12:6457114 SCNN1A G>A	12	6457114	6457114	G	A	SCNN1A	c.1935C>T	NM_001038.6	NP_001029.1:p.(Ala645=)	NC_000012.11:g.6457114G>A	(Likely) benign	1 lab	e4fba53195
2:191859733 STAT1 G>A	2	191859733	191859733	G	A	STAT1	c.944+54C>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191859733G>A	(Likely) benign	1 lab	e4fe387c5e
15:25600943 UBE3A T>C	15	25600943	25600943	T	C	UBE3A	c.2133+96A>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25600943T>C	(Likely) benign	1 lab	e5e679aff4
5:140075434 HARS2 A>T	5	140075434	140075434	A	T	HARS2	c.633+4A>T	NM_012208.4	NP_036340.1:p.?	NC_000005.9:g.140075434A>T	(Likely) benign	1 lab	db73bd27d6
19:33334874 SLC7A9 C>T	19	33334874	33334874	C	T	SLC7A9	c.978-17G>A	NM_014270.5	NP_055085.1:p.?	NC_000019.9:g.33334874C>T	(Likely) benign	1 lab	e504bbf824
14:64443306 SYNE2 A>G	14	64443306	64443306	A	G	SYNE2	c.1154A>G	NM_182914.2	NP_878918.2:p.(Asn385Ser)	NC_000014.8:g.64443306A>G	(Likely) benign	1 lab	e505c1dfab
13:32920970 BRCA2 T>A	13	32920970	32920970	T	A	BRCA2	c.6944T>A	NM_000059.3	NP_000050.2:p.(Ile2315Lys)	NC_000013.10:g.32920970T>A	(Likely) benign	1 lab	e506a68fb9
2:220313633 SPEG G>A	2	220313633	220313633	G	A	SPEG	c.1753G>A	NM_005876.5	NP_005867.3:p.(Gly585Ser)	NC_000002.11:g.220313633G>A	(Likely) benign	1 lab	e50d180a63
18:28654581 DSC2 CA>C	18	28654581	28654593	CA	C	DSC2	c.1888+67del	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28654593del	(Likely) benign	1 lab	e50e883f65
4:79434890 FRAS1 C>A	4	79434890	79434890	C	A	FRAS1	c.10174+184C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79434890C>A	(Likely) benign	1 lab	e50ffce488
7:135262530 NUP205 G>A	7	135262530	135262530	G	A	NUP205	c.649-14G>A	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135262530G>A	(Likely) benign	1 lab	e517249412
6:20402760 E2F3 C>G	6	20402760	20402760	C	G	E2F3	c.297C>G	NM_001949.5	NP_001940.1:p.(Leu99=)	NC_000006.11:g.20402760C>G	(Likely) benign	1 lab	e519035b37
X:31224696 DMD T>TA	X	31224696	31224697	T	TA	DMD	c.9649+2dup	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31224697dup	(Likely) pathogenic	1 lab	e51ca87e55
3:39227495 XIRP1 C>T	3	39227495	39227495	C	T	XIRP1	c.3442G>A	NM_194293.4	NP_919269.2:p.(Val1148Met)	NC_000003.11:g.39227495C>T	(Likely) benign	1 lab	e51e0de6b0
19:50367595 PNKP G>A	19	50367595	50367595	G	A	PNKP	c.564C>T	NM_007254.4	NP_009185.2:p.(Gly188=)	NC_000019.9:g.50367595G>A	(Likely) benign	1 lab	e52158d685
5:155756600 SGCD C>T	5	155756600	155756600	C	T	SGCD	c.3+11C>T	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.155756600C>T	(Likely) benign	1 lab	e5253ddc29
19:55447906 NLRP7 T>A	19	55447906	55447906	T	A	NLRP7	c.2130-107A>T	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55447906T>A	(Likely) benign	1 lab	e52677cdd6
11:58920854 FAM111A CATT>C	11	58920854	58920857	CATT	C	FAM111A	c.1714_1716del	NM_022074.4	NP_071357.2:p.(Ile572del)	NC_000011.9:g.58920855_58920857del	VUS	1 lab	db79852266
4:114280434 ANK2 A>T	4	114280434	114280434	A	T	ANK2	c.10660A>T	NM_001148.4	NP_001139.3:p.(Asn3554Tyr)	NC_000004.11:g.114280434A>T	(Likely) benign	1 lab	e52ab89ceb
5:147466078 SPINK5 ACT>A	5	147466078	147466080	ACT	A	SPINK5	c.394_395del	NM_006846.4	NP_006837.2:p.(Leu132ValfsTer3)	NC_000005.9:g.147466079_147466080del	(Likely) pathogenic	1 lab	e52b1073ce
6:152540127 SYNE1 G>C	6	152540127	152540127	G	C	SYNE1	c.22044+11C>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152540127G>C	(Likely) benign	1 lab	e52ce38bff
2:175624108 CHRNA1 A>G	2	175624108	175624108	A	G	CHRNA1	c.190-5T>C	NM_001039523.3	NP_001034612.1:p.?	NC_000002.11:g.175624108A>G	(Likely) benign	1 lab	e52fac2152
1:16374394 CLCNKB G>C	1	16374394	16374394	G	C	CLCNKB	c.359-6G>C	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16374394G>C	(Likely) benign	1 lab	e5362196d4
2:136872554 CXCR4 T>A	2	136872554	136872554	T	A	CXCR4	c.956A>T	NM_001008540.2	NP_001008540.1:p.(His319Leu)	NC_000002.11:g.136872554T>A	(Likely) benign	1 lab	e538d7b64e
14:65236453 SPTB G>A	14	65236453	65236453	G	A	SPTB	c.5799-7C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65236453G>A	(Likely) benign	1 lab	e53b9074e9
11:47364479 MYBPC3 AGG>A	11	47364479	47364484	AGG	A	MYBPC3	c.1357_1358del	NM_000256.3	NP_000247.2:p.(Pro453CysfsTer21)	NC_000011.9:g.47364483_47364484del	(Likely) pathogenic	1 lab	e53be66a75
9:37428532 GRHPR G>A	9	37428532	37428532	G	A	GRHPR	c.456G>A	NM_012203.2	NP_036335.1:p.(Thr152=)	NC_000009.11:g.37428532G>A	(Likely) benign	1 lab	e5428ac043
1:155265341 PKLR CGAT>C	1	155265341	155265345	CGAT	C	PKLR	c.391_393del	NM_000298.6	NP_000289.1:p.(Ile131del)	NC_000001.10:g.155265343_155265345del	(Likely) pathogenic	1 lab	e54355896b
16:56913093 SLC12A3 G>A	16	56913093	56913093	G	A	SLC12A3	c.1289G>A	NM_000339.3	NP_000330.3:p.(Cys430Tyr)	NC_000016.9:g.56913093G>A	(Likely) pathogenic	1 lab	e546ce7d8c
16:23360067 SCNN1B A>G	16	23360067	23360067	A	G	SCNN1B	c.147A>G	NM_000336.3	NP_000327.2:p.(Lys49=)	NC_000016.9:g.23360067A>G	(Likely) benign	1 lab	e548bb9957
6:135715970 AHI1 T>G	6	135715970	135715970	T	G	AHI1	c.3053A>C	NM_017651.4	NP_060121.3:p.(Gln1018Pro)	NC_000006.11:g.135715970T>G	(Likely) benign	1 lab	e555b10a10
17:78090763 GAA G>A	17	78090763	78090763	G	A	GAA	c.2190-4G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78090763G>A	(Likely) benign	1 lab	e5570b63a7
5:147504314 SPINK5 TA>T	5	147504314	147504316	TA	T	SPINK5	c.2667-12del	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147504316del	(Likely) benign	1 lab	e55915ff47
1:200528594 KIF14 T>C	1	200528594	200528594	T	C	KIF14	c.4231-14A>G	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200528594T>C	(Likely) benign	1 lab	e559799f8d
11:2417881 CD81 T>C	11	2417881	2417881	T	C	CD81	c.585T>C	NM_004356.3	NP_004347.1:p.(Asp195=)	NC_000011.9:g.2417881T>C	(Likely) benign	1 lab	e561a1f07f
16:15818759 MYH11 G>T	16	15818759	15818759	G	T	MYH11	c.3970C>A	NM_001040113.2	NP_001035202.1:p.(Leu1324Ile)	NC_000016.9:g.15818759G>T	(Likely) benign	1 lab	e561dd3a9e
14:65250828 SPTB C>T	14	65250828	65250828	C	T	SPTB	c.4002+137G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65250828C>T	(Likely) benign	1 lab	e5636e3149
2:167760369 XIRP2 G>A	2	167760369	167760369	G	A	XIRP2	c.377G>A	NM_152381.6	NP_689594.4:p.(Ser126Asn)	NC_000002.11:g.167760369G>A	VUS	1 lab	e5640a9745
1:228481257 OBSCN G>A	1	228481257	228481257	G	A	OBSCN	c.12358G>A	NM_001271223.2	NP_001258152.2:p.(Ala4120Thr)	NC_000001.10:g.228481257G>A	(Likely) benign	1 lab	e56648aeac
5:79924975 DHFR A>C	5	79924975	79924975	A	C	DHFR	c.495T>G	NM_000791.4	NP_000782.1:p.(Gly165=)	NC_000005.9:g.79924975A>C	(Likely) benign	1 lab	e56914d648
11:118215145 CD3G C>T	11	118215145	118215145	C	T	CD3G	c.7C>T	NM_000073.2	NP_000064.1:p.(Gln3Ter)	NC_000011.9:g.118215145C>T	(Likely) pathogenic	1 lab	e5696f3cf1
13:32890543 BRCA2 GTCT>G	13	32890543	32890549	GTCT	G	BRCA2	c.-39-12_-39-10del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890547_32890549del	(Likely) benign	1 lab	e56ba1f767
2:32449879 NLRC4 TA>T	2	32449879	32449888	TA	T	NLRC4	c.2783-46del	NM_001199138.2	NP_001186067.1:p.?	NC_000002.11:g.32449888del	(Likely) benign	1 lab	e56be5403d
11:118898324 SLC37A4 G>A	11	118898324	118898324	G	A	SLC37A4	c.625+14C>T	NM_001164278.2	NP_001157750.1:p.?	NC_000011.9:g.118898324G>A	(Likely) benign	1 lab	e56c983702
X:2933067 ARSH C>G	X	2933067	2933067	C	G	ARSH	c.397C>G	NM_001011719.2	NP_001011719.1:p.(Leu133Val)	NC_000023.10:g.2933067C>G	(Likely) benign	1 lab	e570294dd2
5:90459793 ADGRV1 C>T	5	90459793	90459793	C	T	ADGRV1	c.*76C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90459793C>T	(Likely) benign	1 lab	e571b2da87
2:220283352 DES G>T	2	220283352	220283352	G	T	DES	c.168G>T	NM_001927.3	NP_001918.3:p.(Val56=)	NC_000002.11:g.220283352G>T	(Likely) benign	1 lab	e572a0fd8a
4:79373367 FRAS1 C>T	4	79373367	79373367	C	T	FRAS1	c.6622C>T	NM_025074.7	NP_079350.5:p.(Leu2208=)	NC_000004.11:g.79373367C>T	(Likely) benign	1 lab	e57576692e
12:6442631 TNFRSF1A C>T	12	6442631	6442631	C	T	TNFRSF1A	c.374G>A	NM_001065.3	NP_001056.1:p.(Cys125Tyr)	NC_000012.11:g.6442631C>T	(Likely) pathogenic	1 lab	e575e47a2d
6:45513036 RUNX2 T>C	6	45513036	45513036	T	C	RUNX2	c.1087+17T>C	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45513036T>C	(Likely) benign	1 lab	e576e66b2d
2:166170174 SCN2A C>T	2	166170174	166170174	C	T	SCN2A	c.1079C>T	NM_021007.3	NP_066287.2:p.(Pro360Leu)	NC_000002.11:g.166170174C>T	VUS	1 lab	db7d8fa0e4
9:136320388 ADAMTS13 T>C	9	136320388	136320388	T	C	ADAMTS13	c.3250-19T>C	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136320388T>C	(Likely) benign	1 lab	e57c7b107f
15:89860074 POLG A>G	15	89860074	89860074	A	G	POLG	c.3644-16T>C	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89860074A>G	(Likely) benign	1 lab	e57fde6a91
16:1251760 CACNA1H G>A	16	1251760	1251760	G	A	CACNA1H	c.1310G>A	NM_021098.3	NP_066921.2:p.(Arg437Gln)	NC_000016.9:g.1251760G>A	(Likely) benign	1 lab	e5807a9c06
15:45360993 SORD T>C	15	45360993	45360993	T	C	SORD	c.611-82T>C	NM_003104.6	NP_003095.2:p.?	NC_000015.9:g.45360993T>C	(Likely) benign	1 lab	e585041885
14:65246040 SPTB G>A	14	65246040	65246040	G	A	SPTB	c.4474-76C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65246040G>A	(Likely) benign	1 lab	e5892cc1e1
19:7712287 STXBP2 G>A	19	7712287	7712287	G	A	STXBP2	c.1586G>A	NM_006949.2	NP_008880.2:p.(Arg529Gln)	NC_000019.9:g.7712287G>A	VUS	1 lab	e58c5c70db
17:42451817 ITGA2B C>T	17	42451817	42451817	C	T	ITGA2B	c.2965G>A	NM_000419.3	NP_000410.2:p.(Ala989Thr)	NC_000017.10:g.42451817C>T	(Likely) benign	1 lab	e59667a11a
4:2826376 SH3BP2 C>T	4	2826376	2826376	C	T	SH3BP2	c.360C>T	NM_001145855.2	NP_001139327.1:p.(Asn120=)	NC_000004.11:g.2826376C>T	(Likely) benign	1 lab	e5969c9e58
17:41056067 G6PC C>A	17	41056067	41056067	C	A	G6PC				NC_000017.10:g.41056067C>A	(Likely) benign	1 lab	e5a4835981
2:179431051 TTN A>C	2	179431051	179431051	A	C	TTN	c.52988T>G	NM_133432.3	NP_597676.3:p.(Val17663Gly)	NC_000002.11:g.179431051A>C	VUS	1 lab	e5a5e28748
7:143021110 CLCN1 G>A	7	143021110	143021110	G	A	CLCN1	c.775-397G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143021110G>A	(Likely) benign	1 lab	e5a7020afc
10:95931173 PLCE1 G>A	10	95931173	95931173	G	A	PLCE1	c.1729G>A	NM_016341.3	NP_057425.3:p.(Ala577Thr)	NC_000010.10:g.95931173G>A	(Likely) benign	1 lab	e5aa5e4bb8
1:16357273 CLCNKA C>G	1	16357273	16357273	C	G	CLCNKA	c.1622+104C>G	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16357273C>G	(Likely) benign	1 lab	e5b3181f97
19:33792730 CEBPA C>CGCGGGT	19	33792730	33792732	C	CGCGGGT	CEBPA	c.590_591insACCCGC	NM_004364.3	NP_004355.2:p.(Pro198_Ala199dup)	NC_000019.9:g.33792731_33792732insCGGGTG	VUS	1 lab	e5b335a4a4
14:102494000 DYNC1H1 G>A	14	102494000	102494000	G	A	DYNC1H1	c.9093G>A	NM_001376.4	NP_001367.2:p.(Thr3031=)	NC_000014.8:g.102494000G>A	(Likely) benign	1 lab	e5b68d91a8
2:168107491 XIRP2 A>G	2	168107491	168107491	A	G	XIRP2	c.9589A>G	NM_152381.6	NP_689594.4:p.(Ile3197Val)	NC_000002.11:g.168107491A>G	(Likely) benign	1 lab	e5b6a2d163
6:83898365 PGM3 T>C	6	83898365	83898365	T	C	PGM3	c.441A>G	NM_001199917.2	NP_001186846.1:p.(Gln147=)	NC_000006.11:g.83898365T>C	(Likely) benign	1 lab	e5b72e0b63
16:20359916 UMOD G>A	16	20359916	20359916	G	A	UMOD	c.707C>T	NM_003361.3	NP_003352.2:p.(Pro236Leu)	NC_000016.9:g.20359916G>A	(Likely) pathogenic	1 lab	e5bc6b7794
6:31084288 CDSN T>C	6	31084288	31084288	T	C	CDSN	c.1104A>G	NM_001264.5	NP_001255.4:p.(Ala368=)	NC_000006.11:g.31084288T>C	(Likely) benign	1 lab	db87970936
1:11317235 MTOR G>C	1	11317235	11317235	G	C	MTOR	c.272-13C>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11317235G>C	(Likely) benign	1 lab	e5c0805036
16:89346534 ANKRD11 G>A	16	89346534	89346534	G	A	ANKRD11	c.6416C>T	NM_013275.6	NP_037407.4:p.(Pro2139Leu)	NC_000016.9:g.89346534G>A	VUS	1 lab	db8e667e89
17:41063278 G6PC C>T	17	41063278	41063278	C	T	G6PC				NC_000017.10:g.41063278C>T	(Likely) benign	1 lab	e5c671d220
2:166183327 SCN2A A>T	2	166183327	166183327	A	T	SCN2A	c.2017-35A>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166183327A>T	(Likely) benign	1 lab	e5c8276514
5:151235854 GLRA1 A>C	5	151235854	151235854	A	C	GLRA1	c.559+8T>G	NM_001146040.2	NP_001139512.1:p.?	NC_000005.9:g.151235854A>C	(Likely) benign	1 lab	e5cbf10375
1:244218356 ZBTB18 CTT>C	1	244218356	244218359	CTT	C	ZBTB18	c.1282_1283del	NM_205768.3	NP_991331.1:p.(Phe428LeufsTer72)	NC_000001.10:g.244218358_244218359del	(Likely) pathogenic	1 lab	e5cef59c7f
X:39930433 BCOR GA>G	X	39930433	39930446	GA	G	BCOR	c.3052-22del	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39930446del	(Likely) benign	1 lab	e5d1406e4e
19:39406300 SARS2 G>A	19	39406300	39406300	G	A	SARS2	c.1509C>T	NM_001145901.2	NP_001139373.1:p.(Ile503=)	NC_000019.9:g.39406300G>A	(Likely) benign	1 lab	e5d3794898
10:27009219 PDSS1 T>C	10	27009219	27009219	T	C	PDSS1	c.540T>C	NM_014317.5	NP_055132.2:p.(Asp180=)	NC_000010.10:g.27009219T>C	(Likely) benign	1 lab	e5d4febf9d
16:81956999 PLCG2 A>G	16	81956999	81956999	A	G	PLCG2	c.2308-91A>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81956999A>G	(Likely) benign	1 lab	e5de0e2fd4
7:36450271 ANLN C>T	7	36450271	36450271	C	T	ANLN	c.1245C>T	NM_018685.5	NP_061155.2:p.(Asp415=)	NC_000007.13:g.36450271C>T	(Likely) benign	1 lab	e5de95a834
11:36595431 RAG1 G>A	11	36595431	36595431	G	A	RAG1	c.577G>A	NM_000448.2	NP_000439.1:p.(Glu193Lys)	NC_000011.9:g.36595431G>A	(Likely) benign	1 lab	e5de9fb94c
X:100653062 GLA C>T	X	100653062	100653062	C	T	GLA	c.1025G>A	NM_000169.2	NP_000160.1:p.(Arg342Gln)	NC_000023.10:g.100653062C>T	(Likely) pathogenic	1 lab	e5e05ac12d
16:81946198 PLCG2 G>T	16	81946198	81946198	G	T	PLCG2	c.1935-4G>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81946198G>T	(Likely) benign	1 lab	e5e2534ba3
9:131341980 SPTAN1 C>T	9	131341980	131341980	C	T	SPTAN1	c.1286C>T	NM_001130438.2	NP_001123910.1:p.(Ala429Val)	NC_000009.11:g.131341980C>T	(Likely) benign	1 lab	e5e382e141
X:122318386 GRIA3 A>AGC	X	122318386	122318387	A	AGC	GRIA3	c.-1dup	NM_000828.4	NP_000819.3:p.?	NC_000023.10:g.122318386_122318387insGC	(Likely) benign	1 lab	e5e4d32fd9
1:204130517 REN G>A	1	204130517	204130517	G	A	REN	c.276C>T	NM_000537.4	NP_000528.1:p.(Ile92=)	NC_000001.10:g.204130517G>A	(Likely) benign	1 lab	e5e6ef7883
6:56468021 DST A>C	6	56468021	56468021	A	C	DST	c.11139T>G	NM_001374736.1	NP_001361665.1:p.(Leu3713=)	NC_000006.11:g.56468021A>C	(Likely) benign	1 lab	e5f675d836
7:22190131 RAPGEF5 G>GAA	7	22190131	22190149	G	GAA	RAPGEF5	c.1787-11_1787-10dup	NM_012294.5	NP_036426.4:p.?	NC_000007.13:g.22190148_22190149dup	(Likely) benign	1 lab	e5f865d075
9:130586600 ENG T>TA	9	130586600	130586601	T	TA	ENG	c.1116_1117insT	NM_000118.3	NP_000109.1:p.(Lys373Ter)	NC_000009.11:g.130586600_130586601insA	VUS	1 lab	e5f8f91bcb
7:128482840 FLNC C>G	7	128482840	128482840	C	G	FLNC	c.2390-8C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128482840C>G	(Likely) benign	1 lab	e5fcfd6d85
7:91864739 KRIT1 G>C	7	91864739	91864739	G	C	KRIT1	c.707C>G	NM_194456.1	NP_919438.1:p.(Ser236Ter)	NC_000007.13:g.91864739G>C	(Likely) pathogenic	1 lab	e5fd61798f
15:59519746 MYO1E T>C	15	59519746	59519746	T	C	MYO1E	c.554A>G	NM_004998.3	NP_004989.2:p.(Asp185Gly)	NC_000015.9:g.59519746T>C	(Likely) benign	1 lab	e60087539a
9:139414010 NOTCH1 G>A	9	139414010	139414010	G	A	NOTCH1	c.750C>T	NM_017617.5	NP_060087.3:p.(Thr250=)	NC_000009.11:g.139414010G>A	(Likely) benign	1 lab	e60315d49f
1:149755621 FCGR1A G>A	1	149755621	149755621	G	A	FCGR1A	c.115G>A	NM_000566.3	NP_000557.1:p.(Val39Ile)	NC_000001.10:g.149755621G>A	(Likely) benign	1 lab	e60696b9b8
11:6413206 SMPD1 T>C	11	6413206	6413206	T	C	SMPD1	c.911T>C	NM_000543.5	NP_000534.3:p.(Leu304Pro)	NC_000011.9:g.6413206T>C	(Likely) pathogenic	1 lab	db9195d36b
3:77607147 ROBO2 G>T	3	77607147	77607147	G	T	ROBO2	c.1284G>T	NM_002942.5	NP_002933.1:p.(Thr428=)	NC_000003.11:g.77607147G>T	(Likely) benign	1 lab	e6078f897e
16:3714372 TRAP1 C>T	16	3714372	3714372	C	T	TRAP1	c.1472G>A	NM_016292.3	NP_057376.2:p.(Arg491Gln)	NC_000016.9:g.3714372C>T	(Likely) benign	1 lab	e60977fa00
10:73121768 SLC29A3 C>T	10	73121768	73121768	C	T	SLC29A3	c.831C>T	NM_018344.6	NP_060814.4:p.(Pro277=)	NC_000010.10:g.73121768C>T	(Likely) benign	1 lab	e616b78698
5:90004553 ADGRV1 GTTTAA>G	5	90004553	90004563	GTTTAA	G	ADGRV1	c.8731-74_8731-70del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90004559_90004563del	(Likely) benign	1 lab	e61b7afff4
5:79095299 CMYA5 A>G	5	79095299	79095299	A	G	CMYA5	c.12070A>G	NM_153610.5	NP_705838.3:p.(Asn4024Asp)	NC_000005.9:g.79095299A>G	(Likely) benign	1 lab	e61d461b5d
12:6440031 TNFRSF1A TGCCCTTAACATTCTCAATCTGGGGTAG>T	12	6440031	6440060	TGCCCTTAACATTCTCAATCTGGGGTAG	T	TNFRSF1A	c.586_612del	NM_001065.4	NP_001056.1:p.(Leu196_Gly204del)	NC_000012.11:g.6440034_6440060del	(Likely) pathogenic	1 lab	e61d8c2c3e
X:18643383 CDKL5 A>G	X	18643383	18643383	A	G	CDKL5	c.2496+16A>G	NM_001037343.1	NP_001032420.1:p.?	NC_000023.10:g.18643383A>G	(Likely) benign	1 lab	e61dad372d
20:57480481 GNAS T>C	20	57480481	57480481	T	C	GNAS	c.2405T>C	NM_080425.3	NP_536350.2:p.(Val802Ala)	NC_000020.10:g.57480481T>C	VUS	1 lab	e61dcca9a1
17:33476006 UNC45B G>T	17	33476006	33476006	G	T	UNC45B	c.183G>T	NM_173167.3	NP_775259.1:p.(Gln61His)	NC_000017.10:g.33476006G>T	(Likely) benign	1 lab	e61f78a321
12:66849908 GRIP1 G>A	12	66849908	66849908	G	A	GRIP1	c.1043-564C>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849908G>A	(Likely) benign	1 lab	e6207513e5
3:38597134 SCN5A G>C	3	38597134	38597134	G	C	SCN5A	c.4542+13C>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38597134G>C	(Likely) benign	1 lab	e621d4f601
1:16383682 CLCNKB G>C	1	16383682	16383682	G	C	CLCNKB	c.*271G>C	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16383682G>C	(Likely) benign	1 lab	e627047b9b
1:156105691 LMNA G>C	1	156105691	156105691	G	C	LMNA				NC_000001.10:g.156105691G>C	(Likely) pathogenic	1 lab	e62e73e6de
9:139333752 INPP5E G>A	9	139333752	139333752	G	A	INPP5E	c.120C>T	NM_019892.6	NP_063945.2:p.(Pro40=)	NC_000009.11:g.139333752G>A	(Likely) benign	1 lab	e6374dcd40
1:247587093 NLRP3 C>T	1	247587093	247587093	C	T	NLRP3	c.398-56C>T	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247587093C>T	(Likely) benign	1 lab	e638609b4f
15:89836314 FANCI C>G	15	89836314	89836314	C	G	FANCI	c.2291+20C>G	NM_001113378.1	NP_001106849.1:p.?	NC_000015.9:g.89836314C>G	(Likely) benign	1 lab	e6445c7b55
17:73518563 TSEN54 G>C	17	73518563	73518563	G	C	TSEN54	c.1252+149G>C	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73518563G>C	(Likely) benign	1 lab	db955fb00f
3:132438747 NPHP3 CAT>C	3	132438747	132438763	CAT	C	NPHP3	c.394-75_394-74del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132438762_132438763del	(Likely) benign	1 lab	e64c673447
16:20360247 UMOD A>G	16	20360247	20360247	A	G	UMOD	c.376T>C	NM_003361.3	NP_003352.2:p.(Cys126Arg)	NC_000016.9:g.20360247A>G	(Likely) pathogenic	1 lab	e64dffd656
6:7565622 DSP C>T	6	7565622	7565622	C	T	DSP	c.808C>T	NM_004415.2	NP_004406.2:p.(Arg270Ter)	NC_000006.11:g.7565622C>T	(Likely) pathogenic	1 lab	e655490d0d
16:3900661 CREBBP G>A	16	3900661	3900661	G	A	CREBBP	c.435C>T	NM_004380.3	NP_004371.2:p.(Pro145=)	NC_000016.9:g.3900661G>A	(Likely) benign	1 lab	e661175320
20:61987069 CHRNA4 C>T	20	61987069	61987069	C	T	CHRNA4	c.383+258G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61987069C>T	(Likely) benign	1 lab	e665234813
2:179403856 TTN G>A	2	179403856	179403856	G	A	TTN	c.71986C>T	NM_133432.3	NP_597676.3:p.(Arg23996Cys)	NC_000002.11:g.179403856G>A	VUS	1 lab	e665a93027
3:38647624 SCN5A C>G	3	38647624	38647624	C	G	SCN5A	c.1156G>C	NM_198056.2	NP_932173.1:p.(Gly386Arg)	NC_000003.11:g.38647624C>G	(Likely) pathogenic	1 lab	e66ad3ed2c
2:166238957 SCN2A G>A	2	166238957	166238957	G	A	SCN2A	c.4551+1250G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166238957G>A	(Likely) benign	1 lab	e66d1fb686
12:117013996 MAP1LC3B2 G>A	12	117013996	117013996	G	A	MAP1LC3B2	c.249G>A	NM_001085481.3	NP_001078950.1:p.(Val83=)	NC_000012.11:g.117013996G>A	(Likely) benign	1 lab	e66f3c6aa8
6:51920391 PKHD1 A>T	6	51920391	51920391	A	T	PKHD1	c.1830T>A	NM_138694.4	NP_619639.3:p.(Tyr610Ter)	NC_000006.11:g.51920391A>T	(Likely) pathogenic	1 lab	e6711a6db8
2:179659721 TTN A>G	2	179659721	179659721	A	G	TTN	c.1173T>C	NM_133432.3	NP_597676.3:p.(Ala391=)	NC_000002.11:g.179659721A>G	(Likely) benign	1 lab	e674dacdb2
1:78408285 NEXN G>A	1	78408285	78408285	G	A	NEXN	c.1799G>A	NM_144573.3	NP_653174.3:p.(Arg600Lys)	NC_000001.10:g.78408285G>A	VUS	1 lab	e67a7264d3
9:5126321 JAK2 G>GC	9	5126321	5126322	G	GC	JAK2	c.3178-12_3178-11insC	NM_004972.3	NP_004963.1:p.?	NC_000009.11:g.5126321_5126322insC	(Likely) benign	1 lab	e67dbe23a1
6:138583880 ARFGEF3 C>T	6	138583880	138583880	C	T	ARFGEF3	c.1260C>T	NM_020340.5	NP_065073.3:p.(Ile420=)	NC_000006.11:g.138583880C>T	(Likely) benign	1 lab	db9fc8d5a9
11:837660 CD151 GGT>G	11	837660	837663	GGT	G	CD151	c.615+44_615+45del	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.837662_837663del	(Likely) benign	1 lab	e685c3f7a7
9:139396233 NOTCH1 C>T	9	139396233	139396233	C	T	NOTCH1	c.5605G>A	NM_017617.5	NP_060087.3:p.(Ala1869Thr)	NC_000009.11:g.139396233C>T	VUS	1 lab	e68d574d53
4:79205747 FRAS1 A>G	4	79205747	79205747	A	G	FRAS1	c.1399+45A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79205747A>G	(Likely) benign	1 lab	e6f09e72e6
9:90584110 CDK20 T>C	9	90584110	90584110	T	C	CDK20	c.842A>G	NM_001039803.2	NP_001034892.1:p.(Lys281Arg)	NC_000009.11:g.90584110T>C	(Likely) benign	1 lab	e68f2742eb
19:621647 POLRMT A>G	19	621647	621647	A	G	POLRMT	c.2051T>C	NM_005035.4	NP_005026.3:p.(Leu684Pro)	NC_000019.9:g.621647A>G	VUS	1 lab	dba006621a
1:6269069 RNF207 C>A	1	6269069	6269069	C	A	RNF207	c.453C>A	NM_207396.3	NP_997279.2:p.(Asp151Glu)	NC_000001.10:g.6269069C>A	(Likely) benign	1 lab	e68f7f535d
1:160327055 NCSTN C>T	1	160327055	160327055	C	T	NCSTN	c.2007+12C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160327055C>T	(Likely) benign	1 lab	e68fe2ab9d
6:8016071 BLOC1S5 G>T	6	8016071	8016071	G	T	BLOC1S5	c.193-10C>A	NM_001199322.1	NP_001186251.1:p.?	NC_000006.11:g.8016071G>T	(Likely) benign	1 lab	e699b54b6c
19:36339531 NPHS1 C>T	19	36339531	36339531	C	T	NPHS1	c.1170+8G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36339531C>T	(Likely) benign	1 lab	e69d715520
14:23855301 MYH6 C>T	14	23855301	23855301	C	T	MYH6	c.4999G>A	NM_002471.3	NP_002462.2:p.(Asp1667Asn)	NC_000014.8:g.23855301C>T	VUS	1 lab	e69f51ebb8
11:108100041 ATM G>A	11	108100041	108100041	G	A	ATM	c.322G>A	NM_000051.3	NP_000042.3:p.(Ala108Thr)	NC_000011.9:g.108100041G>A	VUS	1 lab	e6a274460f
X:3573434 PRKX C>T	X	3573434	3573434	C	T	PRKX	c.355G>A	NM_005044.5	NP_005035.1:p.(Glu119Lys)	NC_000023.10:g.3573434C>T	(Likely) benign	1 lab	e6a338e536
16:30198056 CORO1A G>T	16	30198056	30198056	G	T	CORO1A	c.321+15G>T	NM_007074.4	NP_009005.1:p.?	NC_000016.9:g.30198056G>T	(Likely) benign	1 lab	e6ae97dd19
19:46269350 SIX5 G>A	19	46269350	46269350	G	A	SIX5	c.1629C>T	NM_175875.4	NP_787071.2:p.(Asn543=)	NC_000019.9:g.46269350G>A	(Likely) benign	1 lab	e6b00f64d9
19:13318994 CACNA1A G>A	19	13318994	13318994	G	A	CACNA1A	c.6799-127C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13318994G>A	(Likely) benign	1 lab	e6b0986471
6:39843188 DAAM2 T>C	6	39843188	39843188	T	C	DAAM2	c.1245T>C	NM_001201427.2	NP_001188356.1:p.(Gly415=)	NC_000006.11:g.39843188T>C	(Likely) benign	1 lab	e6b3c57dfe
12:66849062 GRIP1 C>T	12	66849062	66849062	C	T	GRIP1	c.1198+127G>A	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849062C>T	(Likely) benign	1 lab	e6b712dd11
2:166847834 SCN1A G>T	2	166847834	166847834	G	T	SCN1A	c.5951C>A	NM_001165963.3	NP_001159435.1:p.(Pro1984His)	NC_000002.11:g.166847834G>T	(Likely) benign	1 lab	e6bc43d2be
4:187510154 FAT1 G>A	4	187510154	187510154	G	A	FAT1	c.13359C>T	NM_005245.4	NP_005236.2:p.(Pro4453=)	NC_000004.11:g.187510154G>A	(Likely) benign	1 lab	e6c013ae0f
1:237982454 RYR2 T>C	1	237982454	237982454	T	C	RYR2	c.14552T>C	NM_001035.3	NP_001026.2:p.(Phe4851Ser)	NC_000001.10:g.237982454T>C	(Likely) pathogenic	1 lab	e6c9d2c6a6
X:154194957 F8 T>C	X	154194957	154194957	T	C	F8	c.1015A>G	NM_000132.3	NP_000123.1:p.(Met339Val)	NC_000023.10:g.154194957T>C	(Likely) pathogenic	1 lab	e6ce46cd40
13:52516639 ATP7B C>T	13	52516639	52516639	C	T	ATP7B	c.3295G>A	NM_000053.4	NP_000044.2:p.(Gly1099Ser)	NC_000013.10:g.52516639C>T	(Likely) pathogenic	1 lab	e6cf265357
12:110023912 MVK A>G	12	110023912	110023912	A	G	MVK	c.613A>G	NM_000431.2	NP_000422.1:p.(Asn205Asp)	NC_000012.11:g.110023912A>G	(Likely) pathogenic	1 lab	e6cfc92bd9
9:101540510 ANKS6 T>C	9	101540510	101540510	T	C	ANKS6	c.1565A>G	NM_173551.5	NP_775822.3:p.(Asn522Ser)	NC_000009.11:g.101540510T>C	(Likely) benign	1 lab	e6d45f1570
2:71192103 ATP6V1B1 G>A	2	71192103	71192103	G	A	ATP6V1B1	c.1394G>A	NM_001692.4	NP_001683.2:p.(Arg465His)	NC_000002.11:g.71192103G>A	(Likely) benign	1 lab	e6d7309d85
16:3293384 MEFV C>T	16	3293384	3293384	C	T	MEFV	c.2103G>A	NM_000243.2	NP_000234.1:p.(Ala701=)	NC_000016.9:g.3293384C>T	(Likely) benign	1 lab	e6d765ac6b
5:37227455 CPLANE1 G>C	5	37227455	37227455	G	C	CPLANE1	c.1411C>G	NM_023073.3	NP_075561.3:p.(Leu471Val)	NC_000005.9:g.37227455G>C	(Likely) benign	1 lab	e6d8c04918
17:41199678 BRCA1 C>A	17	41199678	41199678	C	A	BRCA1	c.5449G>T	NM_007294.4	NP_009225.1:p.(Glu1817Ter)	NC_000017.10:g.41199678C>A	(Likely) pathogenic	1 lab	dba4c44660
3:48508912 TREX1 GCTGCTGGCCCCACTGGGT>G	3	48508912	48508939	GCTGCTGGCCCCACTGGGT	G	TREX1	c.868_885del	NM_033629.6	NP_338599.1:p.(Pro290_Ala295del)	NC_000003.11:g.48508922_48508939del	(Likely) pathogenic	1 lab	e6e62bcf7c
16:27761635 KATNIP G>T	16	27761635	27761635	G	T	KATNIP	c.3346+8G>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27761635G>T	(Likely) benign	1 lab	e6edc9fe22
16:81973680 PLCG2 A>G	16	81973680	81973680	A	G	PLCG2	c.3481+16A>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81973680A>G	(Likely) benign	1 lab	e6f15810b0
13:103249571 TPP2 G>A	13	103249571	103249571	G	A	TPP2	c.165+18G>A	NM_001330588.2	NP_001317517.1:p.?	NC_000013.10:g.103249571G>A	(Likely) benign	1 lab	e70f9542bd
2:166850765 SCN1A A>G	2	166850765	166850765	A	G	SCN1A	c.4743T>C	NM_001165963.3	NP_001159435.1:p.(Ile1581=)	NC_000002.11:g.166850765A>G	(Likely) benign	1 lab	e6f4772d68
1:6266644 RNF207 G>A	1	6266644	6266644	G	A	RNF207	c.49G>A	NM_207396.3	NP_997279.2:p.(Ala17Thr)	NC_000001.10:g.6266644G>A	(Likely) benign	1 lab	e6fa2eb78a
13:39446869 FREM2 G>A	13	39446869	39446869	G	A	FREM2	c.7984-10G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39446869G>A	(Likely) benign	1 lab	e6ff07fc34
8:41553871 ANK1 G>A	8	41553871	41553871	G	A	ANK1	c.2960+10C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41553871G>A	(Likely) benign	1 lab	e70036cc6d
9:139265027 CARD9 G>A	9	139265027	139265027	G	A	CARD9	c.754C>T	NM_052813.4	NP_434700.2:p.(Gln252Ter)	NC_000009.11:g.139265027G>A	VUS	1 lab	e70120f5b4
22:36681841 MYH9 G>A	22	36681841	36681841	G	A	MYH9	c.5151-14C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36681841G>A	(Likely) benign	1 lab	e704045171
X:119678057 CUL4B A>C	X	119678057	119678057	A	C	CUL4B	c.1139T>G	NM_003588.3	NP_003579.3:p.(Ile380Ser)	NC_000023.10:g.119678057A>C	(Likely) benign	1 lab	e7044c8c0f
19:7711221 STXBP2 T>C	19	7711221	7711221	T	C	STXBP2	c.1443T>C	NM_006949.2	NP_008880.2:p.(Asp481=)	NC_000019.9:g.7711221T>C	(Likely) benign	1 lab	e87801bde4
12:110023903 MVK G>A	12	110023903	110023903	G	A	MVK	c.604G>A	NM_000431.2	NP_000422.1:p.(Gly202Arg)	NC_000012.11:g.110023903G>A	(Likely) pathogenic	1 lab	e70ff0938f
2:145156879 ZEB2 G>A	2	145156879	145156879	G	A	ZEB2	c.1875C>T	NM_014795.4	NP_055610.1:p.(Ala625=)	NC_000002.11:g.145156879G>A	(Likely) benign	1 lab	e712d9457c
X:106066611 TBC1D8B G>T	X	106066611	106066611	G	T	TBC1D8B	c.742G>T	NM_017752.3	NP_060222.2:p.(Ala248Ser)	NC_000023.10:g.106066611G>T	(Likely) benign	1 lab	e7139338ff
19:13370367 CACNA1A G>A	19	13370367	13370367	G	A	CACNA1A	c.4400+11C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13370367G>A	(Likely) benign	1 lab	e715fd80b0
1:237969505 RYR2 C>G	1	237969505	237969505	C	G	RYR2	c.14220C>G	NM_001035.3	NP_001026.2:p.(Ala4740=)	NC_000001.10:g.237969505C>G	(Likely) benign	1 lab	e71b02233f
1:57372463 C8A C>T	1	57372463	57372463	C	T	C8A	c.1220C>T	NM_000562.2	NP_000553.1:p.(Thr407Ile)	NC_000001.10:g.57372463C>T	(Likely) benign	1 lab	e71c434998
19:35790493 MAG C>T	19	35790493	35790493	C	T	MAG	c.452C>T	NM_002361.4	NP_002352.1:p.(Ala151Val)	NC_000019.9:g.35790493C>T	(Likely) benign	1 lab	e71d628a55
18:52895271 TCF4 G>A	18	52895271	52895271	G	A	TCF4	c.*5-10C>T	NM_001243228.2	NP_001230157.1:p.?	NC_000018.9:g.52895271G>A	(Likely) benign	1 lab	e720f90c42
6:24289136 DCDC2 T>C	6	24289136	24289136	T	C	DCDC2	c.705-2A>G	NM_016356.5	NP_057440.2:p.?	NC_000006.11:g.24289136T>C	(Likely) pathogenic	1 lab	e721a6a7c4
17:42428844 GRN G>A	17	42428844	42428844	G	A	GRN	c.933+16G>A	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428844G>A	(Likely) benign	1 lab	e72221ad1d
11:836418 CD151 G>T	11	836418	836418	G	T	CD151	c.252G>T	NM_004357.5	NP_004348.2:p.(Lys84Asn)	NC_000011.9:g.836418G>T	(Likely) benign	1 lab	e87a8c96e3
X:53576406 HUWE1 G>A	X	53576406	53576406	G	A	HUWE1	c.9549C>T	NM_031407.7	NP_113584.3:p.(His3183=)	NC_000023.10:g.53576406G>A	(Likely) benign	1 lab	e72851b0d9
2:175450260 WIPF1 C>T	2	175450260	175450260	C	T	WIPF1	c.42G>A	NM_001077269.1	NP_001070737.1:p.(Thr14=)	NC_000002.11:g.175450260C>T	(Likely) benign	1 lab	e72b6598bd
18:2922242 LPIN2 G>GA	18	2922242	2922246	G	GA	LPIN2	c.2175-46dup	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2922246dup	(Likely) benign	1 lab	e72e91ac91
12:133248796 POLE G>A	12	133248796	133248796	G	A	POLE	c.1794+5C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133248796G>A	(Likely) benign	1 lab	dba56d8f86
6:7558375 DSP A>T	6	7558375	7558375	A	T	DSP	c.300A>T	NM_004415.2	NP_004406.2:p.(Gln100His)	NC_000006.11:g.7558375A>T	VUS	1 lab	e7334bec1e
9:130605450 ENG G>A	9	130605450	130605450	G	A	ENG	c.142C>T	NM_000118.3	NP_000109.1:p.(Gln48Ter)	NC_000009.11:g.130605450G>A	(Likely) pathogenic	1 lab	e73543fd1b
4:128625363 INTU A>G	4	128625363	128625363	A	G	INTU	c.1504-20A>G	NM_015693.4	NP_056508.2:p.?	NC_000004.11:g.128625363A>G	(Likely) benign	1 lab	e73571f48e
1:59148208 MYSM1 C>T	1	59148208	59148208	C	T	MYSM1	c.508G>A	NM_001085487.3	NP_001078956.1:p.(Gly170Ser)	NC_000001.10:g.59148208C>T	(Likely) benign	1 lab	e7364bf422
X:21659488 CNKSR2 G>A	X	21659488	21659488	G	A	CNKSR2	c.2693-7461G>A	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21659488G>A	(Likely) benign	1 lab	e73982d4f2
7:73971995 GTF2IRD1 A>G	7	73971995	73971995	A	G	GTF2IRD1	c.2095A>G	NM_016328.3	NP_057412.1:p.(Ile699Val)	NC_000007.13:g.73971995A>G	VUS	1 lab	dba5a03e75
14:52735374 PTGDR T>A	14	52735374	52735374	T	A	PTGDR	c.842T>A	NM_000953.3	NP_000944.1:p.(Val281Glu)	NC_000014.8:g.52735374T>A	VUS	1 lab	dba65f274b
3:64132852 PRICKLE2 C>G	3	64132852	64132852	C	G	PRICKLE2	c.1314G>C	NM_198859.4	NP_942559.1:p.(Gln438His)	NC_000003.11:g.64132852C>G	(Likely) benign	1 lab	e73d895025
1:186413588 PDC G>C	1	186413588	186413588	G	C	PDC	c.264C>G	NM_002597.5	NP_002588.3:p.(Asn88Lys)	NC_000001.10:g.186413588G>C	(Likely) benign	1 lab	e73f9780c7
4:178363506 AGA A>G	4	178363506	178363506	A	G	AGA	c.24T>C	NM_000027.4	NP_000018.2:p.(Pro8=)	NC_000004.11:g.178363506A>G	(Likely) benign	1 lab	e73fc04454
X:62863977 ARHGEF9 A>C	X	62863977	62863977	A	C	ARHGEF9	c.1301-49T>G	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62863977A>C	(Likely) benign	1 lab	e7414d13f6
2:32477724 NLRC4 C>T	2	32477724	32477724	C	T	NLRC4	c.26G>A	NM_021209.4	NP_067032.3:p.(Arg9Gln)	NC_000002.11:g.32477724C>T	(Likely) benign	1 lab	e748c12b47
5:90006758 ADGRV1 A>G	5	90006758	90006758	A	G	ADGRV1	c.8825-40A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90006758A>G	(Likely) benign	1 lab	e74962873f
7:158716318 DYNC2I1 G>A	7	158716318	158716318	G	A	DYNC2I1	c.2151G>A	NM_018051.5	NP_060521.4:p.(Ala717=)	NC_000007.13:g.158716318G>A	(Likely) benign	1 lab	e74cca066c
8:13356831 DLC1 G>A	8	13356831	13356831	G	A	DLC1	c.750C>T	NM_182643.3	NP_872584.2:p.(Cys250=)	NC_000008.10:g.13356831G>A	(Likely) benign	1 lab	e754de46d4
8:90992983 NBN T>C	8	90992983	90992983	T	C	NBN	c.459A>G	NM_002485.4	NP_002476.2:p.(Val153=)	NC_000008.10:g.90992983T>C	(Likely) benign	1 lab	e75778d334
5:150726876 SLC36A2 T>C	5	150726876	150726876	T	C	SLC36A2	c.146A>G	NM_181776.3	NP_861441.2:p.(Lys49Arg)	NC_000005.9:g.150726876T>C	VUS	1 lab	dbac78b104
8:145738298 RECQL4 A>G	8	145738298	145738298	A	G	RECQL4	c.2687T>C	NM_004260.3	NP_004251.3:p.(Val896Ala)	NC_000008.10:g.145738298A>G	(Likely) benign	1 lab	e75d466370
1:39715725 MACF1 G>A	1	39715725	39715725	G	A	MACF1	c.322G>A	NM_012090.5	NP_036222.3:p.(Asp108Asn)	NC_000001.10:g.39715725G>A	VUS	1 lab	dbafd6b937
20:33225793 PIGU G>C	20	33225793	33225793	G	C	PIGU	c.319-4C>G	NM_080476.5	NP_536724.1:p.?	NC_000020.10:g.33225793G>C	(Likely) benign	1 lab	dbb058c6e9
1:201868641 LMOD1 C>T	1	201868641	201868641	C	T	LMOD1	c.1500G>A	NM_012134.3	NP_036266.2:p.(Lys500=)	NC_000001.10:g.201868641C>T	(Likely) benign	1 lab	e75ded5913
3:71026856 FOXP1 G>A	3	71026856	71026856	G	A	FOXP1	c.1363C>T	NM_001244808.2	NP_001231737.1:p.(Gln455Ter)	NC_000003.11:g.71026856G>A	(Likely) pathogenic	1 lab	e75e044a0f
4:79308831 FRAS1 G>A	4	79308831	79308831	G	A	FRAS1	c.3951G>A	NM_025074.7	NP_079350.5:p.(Leu1317=)	NC_000004.11:g.79308831G>A	(Likely) benign	1 lab	e75ee4b8e9
10:17127630 CUBN G>A	10	17127630	17127630	G	A	CUBN	c.2076C>T	NM_001081.3	NP_001072.2:p.(Asp692=)	NC_000010.10:g.17127630G>A	(Likely) benign	1 lab	e76155c7bd
14:65216084 SPTB G>C	14	65216084	65216084	G	C	SPTB	c.6927C>G	NM_001355436.2	NP_001342365.1:p.(Asp2309Glu)	NC_000014.8:g.65216084G>C	VUS	1 lab	dbb44f3079
5:79026339 CMYA5 A>C	5	79026339	79026339	A	C	CMYA5	c.1751A>C	NM_153610.5	NP_705838.3:p.(Glu584Ala)	NC_000005.9:g.79026339A>C	(Likely) benign	1 lab	e7657b58c2
10:104417048 TRIM8 C>T	10	104417048	104417048	C	T	TRIM8	c.1593C>T	NM_030912.2	NP_112174.2:p.(Pro531=)	NC_000010.10:g.104417048C>T	(Likely) benign	1 lab	e767181510
22:36710335 MYH9 T>C	22	36710335	36710335	T	C	MYH9	c.1409A>G	NM_002473.5	NP_002464.1:p.(Asn470Ser)	NC_000022.10:g.36710335T>C	VUS	1 lab	e7684ce746
18:2938020 LPIN2 G>T	18	2938020	2938020	G	T	LPIN2	c.838C>A	NM_014646.2	NP_055461.1:p.(Arg280=)	NC_000018.9:g.2938020G>T	(Likely) benign	1 lab	e769e9a9d6
1:160091137 ATP1A2 T>C	1	160091137	160091137	T	C	ATP1A2				NC_000001.10:g.160091137T>C	(Likely) benign	1 lab	e76bcbde83
7:92734832 SAMD9 C>T	7	92734832	92734832	C	T	SAMD9	c.579G>A	NM_017654.4	NP_060124.2:p.(Pro193=)	NC_000007.13:g.92734832C>T	(Likely) benign	1 lab	e76c2f3071
17:61560033 ACE G>A	17	61560033	61560033	G	A	ACE	c.1325G>A	NM_000789.4	NP_000780.1:p.(Arg442His)	NC_000017.10:g.61560033G>A	(Likely) benign	1 lab	e771a7ea12
1:247587329 NLRP3 C>T	1	247587329	247587329	C	T	NLRP3	c.578C>T	NM_001243133.2	NP_001230062.1:p.(Thr193Met)	NC_000001.10:g.247587329C>T	VUS	1 lab	e7730117ea
1:196654311 CFH G>A	1	196654311	196654311	G	A	CFH	c.908G>A	NM_000186.3	NP_000177.2:p.(Arg303Gln)	NC_000001.10:g.196654311G>A	VUS	1 lab	e7740284cb
10:14941205 DCLRE1C G>C	10	14941205	14941205	G	C	DCLRE1C	n.2256C>G	NR_146960.1		NC_000010.10:g.14941205G>C	(Likely) benign	1 lab	e774ce7a5b
5:90144736 ADGRV1 T>G	5	90144736	90144736	T	G	ADGRV1	c.17204+98T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90144736T>G	(Likely) benign	1 lab	e7753755b8
2:15449355 NBAS T>G	2	15449355	15449355	T	G	NBAS	c.4599A>C	NM_015909.4	NP_056993.2:p.(Ala1533=)	NC_000002.11:g.15449355T>G	(Likely) benign	1 lab	e776558121
7:36465606 ANLN CT>C	7	36465606	36465621	CT	C	ANLN	c.2749-3del	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36465621del	(Likely) benign	1 lab	e776929648
2:39250049 SOS1 G>A	2	39250049	39250049	G	A	SOS1	c.1520C>T	NM_005633.4	NP_005624.2:p.(Thr507Ile)	NC_000002.11:g.39250049G>A	VUS	1 lab	dbb73c971e
2:189931243 COL5A2 A>G	2	189931243	189931243	A	G	COL5A2	c.1456-20T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189931243A>G	(Likely) benign	1 lab	e779e440cb
5:140905660 DIAPH1 C>T	5	140905660	140905660	C	T	DIAPH1	c.3519G>A	NM_005219.5	NP_005210.3:p.(Glu1173=)	NC_000005.9:g.140905660C>T	(Likely) benign	1 lab	e77d799f85
X:153295901 MECP2 C>G	X	153295901	153295901	C	G	MECP2	c.1378G>C	NM_004992.4	NP_004983.1:p.(Asp460His)	NC_000023.10:g.153295901C>G	VUS	1 lab	dbb8299f0a
18:32428338 DTNA C>A	18	32428338	32428338	C	A	DTNA	c.1164C>A	NM_001198939.2	NP_001185868.1:p.(Ser388=)	NC_000018.9:g.32428338C>A	(Likely) benign	1 lab	e77ff1cc51
11:63978072 FERMT3 G>A	11	63978072	63978072	G	A	FERMT3	c.161-11G>A	NM_178443.2	NP_848537.1:p.?	NC_000011.9:g.63978072G>A	(Likely) benign	1 lab	e782524683
2:189912994 COL5A2 A>G	2	189912994	189912994	A	G	COL5A2	c.3148-6T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189912994A>G	(Likely) benign	1 lab	e7827d9cd1
10:78839371 KCNMA1 T>C	10	78839371	78839371	T	C	KCNMA1	c.1524-63A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78839371T>C	(Likely) benign	1 lab	e784826848
12:44166703 IRAK4 A>T	12	44166703	44166703	A	T	IRAK4	c.491-12A>T	NM_001114182.2	NP_001107654.1:p.?	NC_000012.11:g.44166703A>T	(Likely) benign	1 lab	e78cb53f56
2:73800357 ALMS1 A>G	2	73800357	73800357	A	G	ALMS1	c.11356A>G	NM_015120.4	NP_055935.4:p.(Ile3786Val)	NC_000002.11:g.73800357A>G	(Likely) benign	1 lab	e78d16356d
16:4780109 ANKS3 C>G	16	4780109	4780109	C	G	ANKS3	c.42G>C	NM_133450.4	NP_597707.1:p.(Leu14=)	NC_000016.9:g.4780109C>G	(Likely) benign	1 lab	e790c81846
2:152739810 CACNB4 T>A	2	152739810	152739810	T	A	CACNB4	c.81A>T	NM_001320722.3	NP_001307651.1:p.(Arg27=)	NC_000002.11:g.152739810T>A	(Likely) benign	1 lab	e791e447ed
9:140127865 SLC34A3 G>A	9	140127865	140127865	G	A	SLC34A3	c.756+9G>A	NM_080877.2	NP_543153.1:p.?	NC_000009.11:g.140127865G>A	(Likely) benign	1 lab	e793994488
17:42884852 GJC1 G>A	17	42884852	42884852	G	A	GJC1	c.-96-15C>T	NM_005497.4	NP_005488.2:p.?	NC_000017.10:g.42884852G>A	(Likely) benign	1 lab	e79da4874d
10:54531226 MBL2 C>T	10	54531226	54531226	C	T	MBL2	c.170G>A	NM_000242.2	NP_000233.1:p.(Gly57Glu)	NC_000010.10:g.54531226C>T	(Likely) benign	1 lab	e79e96a86b
19:51327172 KLK15 C>G	19	51327172	51327172	C	G	KLK15				NC_000019.9:g.51327172C>G	(Likely) benign	1 lab	e79f1839d2
8:68396159 CPA6 T>C	8	68396159	68396159	T	C	CPA6	c.748-66A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68396159T>C	(Likely) benign	1 lab	e7a26d9a86
1:40747202 ZMPSTE24 G>A	1	40747202	40747202	G	A	ZMPSTE24				NC_000001.10:g.40747202G>A	(Likely) benign	1 lab	e7a30155c6
20:57484420 GNAS C>T	20	57484420	57484420	C	T	GNAS	c.2530C>T	NM_080425.3	NP_536350.2:p.(Arg844Cys)	NC_000020.10:g.57484420C>T	(Likely) pathogenic	1 lab	e7a4aff2ef
5:90041297 ADGRV1 T>C	5	90041297	90041297	T	C	ADGRV1	c.10770-111T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90041297T>C	(Likely) benign	1 lab	e7a83f17f3
3:193364849 OPA1 A>T	3	193364849	193364849	A	T	OPA1	c.1755-5A>T	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193364849A>T	(Likely) benign	1 lab	e7aa84047c
11:117215006 CEP164 G>T	11	117215006	117215006	G	T	CEP164	c.194+13G>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117215006G>T	(Likely) benign	1 lab	e7aab1c91e
9:98734519 ERCC6L2 C>T	9	98734519	98734519	C	T	ERCC6L2				NC_000009.11:g.98734519C>T	(Likely) benign	1 lab	e7af3132b2
2:166856272 SCN1A T>A	2	166856272	166856272	T	A	SCN1A	c.4299A>T	NM_001165963.3	NP_001159435.1:p.(Gly1433=)	NC_000002.11:g.166856272T>A	(Likely) benign	1 lab	e7b0c6446f
18:32386218 DTNA A>T	18	32386218	32386218	A	T	DTNA	c.398A>T	NM_001198939.2	NP_001185868.1:p.(Lys133Ile)	NC_000018.9:g.32386218A>T	VUS	1 lab	e7b1ec37e2
16:3293403 MEFV TTCA>T	16	3293403	3293410	TTCA	T	MEFV	c.2081_2083del	NM_000243.3	NP_000234.1:p.(Met694del)	NC_000016.9:g.3293408_3293410del	(Likely) pathogenic	1 lab	e7b6634fcf
16:10992600 CIITA G>A	16	10992600	10992600	G	A	CIITA	c.358+11G>A	NM_000246.3	NP_000237.2:p.?	NC_000016.9:g.10992600G>A	(Likely) benign	1 lab	e7ba9571b7
1:205779270 SLC41A1 C>A	1	205779270	205779270	C	A	SLC41A1	c.300G>T	NM_173854.6	NP_776253.3:p.(Leu100=)	NC_000001.10:g.205779270C>A	(Likely) benign	1 lab	e7bc162a9f
2:31591517 XDH C>T	2	31591517	31591517	C	T	XDH	c.1990G>A	NM_000379.4	NP_000370.2:p.(Val664Ile)	NC_000002.11:g.31591517C>T	(Likely) benign	1 lab	e7be71fade
13:52509723 ATP7B A>G	13	52509723	52509723	A	G	ATP7B	c.4124+6T>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52509723A>G	VUS	1 lab	e7c182b103
6:51611688 PKHD1 C>T	6	51611688	51611688	C	T	PKHD1	c.9830-1G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51611688C>T	(Likely) pathogenic	1 lab	e7c1b35ff2
18:28654771 DSC2 A>T	18	28654771	28654771	A	T	DSC2				NC_000018.9:g.28654771A>T	VUS	1 lab	e7c2e7f215
8:145139748 GPAA1 C>T	8	145139748	145139748	C	T	GPAA1	c.1134C>T	NM_003801.4	NP_003792.1:p.(Val378=)	NC_000008.10:g.145139748C>T	(Likely) benign	1 lab	e7c4f9fef2
16:2165390 PKD1 C>T	16	2165390	2165390	C	T	PKD1	c.2086G>A	NM_001009944.2	NP_001009944.2:p.(Ala696Thr)	NC_000016.9:g.2165390C>T	(Likely) benign	1 lab	e7c732c0ed
13:39454527 FREM2 T>C	13	39454527	39454527	T	C	FREM2	c.9113T>C	NM_207361.6	NP_997244.4:p.(Val3038Ala)	NC_000013.10:g.39454527T>C	(Likely) benign	1 lab	e7c82c77d0
21:45711010 AIRE C>T	21	45711010	45711010	C	T	AIRE				NC_000021.8:g.45711010C>T	(Likely) benign	1 lab	e7c9e9aae3
3:45814094 SLC6A20 G>A	3	45814094	45814094	G	A	SLC6A20	c.596C>T	NM_020208.4	NP_064593.1:p.(Thr199Met)	NC_000003.11:g.45814094G>A	(Likely) benign	1 lab	e7cd6a9b45
19:55451720 NLRP7 C>T	19	55451720	55451720	C	T	NLRP7	c.467G>A	NM_001127255.1	NP_001120727.1:p.(Arg156Gln)	NC_000019.9:g.55451720C>T	(Likely) benign	1 lab	e7d0170ed1
4:126398487 FAT4 T>C	4	126398487	126398487	T	C	FAT4				NC_000004.11:g.126398487T>C	(Likely) benign	1 lab	e7d03b5167
16:15853423 MYH11 C>T	16	15853423	15853423	C	T	MYH11	c.1422+10G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15853423C>T	(Likely) benign	1 lab	e7d39611a1
21:36259347 RUNX1 G>A	21	36259347	36259347	G	A	RUNX1	c.63C>T	NM_001001890.3	NP_001001890.1:p.(Ser21=)	NC_000021.8:g.36259347G>A	VUS	1 lab	e7d3962bc1
11:694974 DEAF1 A>C	11	694974	694974	A	C	DEAF1	c.74T>G	NM_021008.3	NP_066288.2:p.(Val25Gly)	NC_000011.9:g.694974A>C	VUS	1 lab	e7d9971160
2:166771884 TTC21B C>T	2	166771884	166771884	C	T	TTC21B	c.1965G>A	NM_024753.5	NP_079029.3:p.(Arg655=)	NC_000002.11:g.166771884C>T	(Likely) benign	1 lab	e7da334c18
22:32222383 DEPDC5 T>C	22	32222383	32222383	T	C	DEPDC5	c.2104+3607T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32222383T>C	(Likely) benign	1 lab	e7dc0fc89c
8:41584836 ANK1 G>A	8	41584836	41584836	G	A	ANK1	c.457C>T	NM_001142446.2	NP_001135918.1:p.(Gln153Ter)	NC_000008.10:g.41584836G>A	(Likely) pathogenic	1 lab	e7e014609d
17:5456705 NLRP1 C>G	17	5456705	5456705	C	G	NLRP1	c.2528+1G>C	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5456705C>G	(Likely) pathogenic	1 lab	e7e3f748f0
X:153219118 HCFC1 T>C	X	153219118	153219118	T	C	HCFC1	c.4437A>G	NM_005334.3	NP_005325.2:p.(Thr1479=)	NC_000023.10:g.153219118T>C	(Likely) benign	1 lab	e7e5ade9a4
X:118985747 UPF3B A>C	X	118985747	118985747	A	C	UPF3B	c.246T>G	NM_080632.3	NP_542199.1:p.(Phe82Leu)	NC_000023.10:g.118985747A>C	VUS	1 lab	dbbf766b6d
22:32193878 DEPDC5 T>A	22	32193878	32193878	T	A	DEPDC5	c.871+189T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32193878T>A	(Likely) benign	1 lab	e7e972b1c5
12:52309898 ACVRL1 T>C	12	52309898	52309898	T	C	ACVRL1	c.1127T>C	NM_000020.2	NP_000011.2:p.(Met376Thr)	NC_000012.11:g.52309898T>C	VUS	1 lab	e7f25457c7
1:155263324 PKLR C>T	1	155263324	155263324	C	T	PKLR	c.1174G>A	NM_000298.6	NP_000289.1:p.(Ala392Thr)	NC_000001.10:g.155263324C>T	(Likely) pathogenic	1 lab	e7f2becfa0
19:13325007 CACNA1A G>A	19	13325007	13325007	G	A	CACNA1A	c.5958+40C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325007G>A	(Likely) benign	1 lab	e7f4b00602
1:196964904 CFHR5 T>C	1	196964904	196964904	T	C	CFHR5	c.665T>C	NM_030787.3	NP_110414.1:p.(Ile222Thr)	NC_000001.10:g.196964904T>C	(Likely) benign	1 lab	e7f8a305e2
16:27709826 KATNIP G>A	16	27709826	27709826	G	A	KATNIP	c.1113+5G>A	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27709826G>A	(Likely) benign	1 lab	e8003341e2
4:79187900 FRAS1 T>G	4	79187900	79187900	T	G	FRAS1	c.688-88T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79187900T>G	(Likely) benign	1 lab	e80528f88b
17:62009541 CD79B C>T	17	62009541	62009541	C	T	CD79B	c.67+14G>A	NM_000626.4	NP_000617.1:p.?	NC_000017.10:g.62009541C>T	(Likely) benign	1 lab	e80573e7ba
3:69038088 EOGT A>G	3	69038088	69038088	A	G	EOGT	c.912T>C	NM_001278689.2	NP_001265618.1:p.(Tyr304=)	NC_000003.11:g.69038088A>G	(Likely) benign	1 lab	e808deded4
6:49573319 RHAG C>T	6	49573319	49573319	C	T	RHAG	c.*207G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49573319C>T	(Likely) benign	1 lab	e80b9fe5d5
9:14784492 FREM1 C>T	9	14784492	14784492	C	T	FREM1	c.4318G>A	NM_144966.5	NP_659403.4:p.(Gly1440Ser)	NC_000009.11:g.14784492C>T	VUS	1 lab	e80ef587c4
12:6442983 TNFRSF1A C>T	12	6442983	6442983	C	T	TNFRSF1A	c.242G>A	NM_001065.3	NP_001056.1:p.(Cys81Tyr)	NC_000012.11:g.6442983C>T	(Likely) pathogenic	1 lab	e814cc6988
8:95854556 INTS8 C>A	8	95854556	95854556	C	A	INTS8	c.1119-19C>A	NM_017864.4	NP_060334.2:p.?	NC_000008.10:g.95854556C>A	(Likely) benign	1 lab	e8153e71f6
12:121958796 KDM2B T>A	12	121958796	121958796	T	A	KDM2B	c.1039A>T	NM_032590.5	NP_115979.3:p.(Arg347Trp)	NC_000012.11:g.121958796T>A	VUS	1 lab	dbc1cca822
12:25368410 KRAS C>T	12	25368410	25368410	C	T	KRAS	c.535G>A	NM_033360.4	NP_203524.1:p.(Gly179Ser)	NC_000012.11:g.25368410C>T	(Likely) benign	1 lab	e817106af6
1:160321181 NCSTN A>T	1	160321181	160321181	A	T	NCSTN	c.733+19A>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160321181A>T	(Likely) benign	1 lab	e81cdeae57
10:90770294 FAS A>C	10	90770294	90770294	A	C	FAS	c.444-2A>C	NM_000043.4	NP_000034.1:p.?	NC_000010.10:g.90770294A>C	VUS	1 lab	e81d8bca03
3:186459929 KNG1 C>T	3	186459929	186459929	C	T	KNG1	c.1744C>T	NM_001102416.3	NP_001095886.1:p.(Gln582Ter)	NC_000003.11:g.186459929C>T	VUS	1 lab	dbc23cb865
X:73963371 NEXMIF C>T	X	73963371	73963371	C	T	NEXMIF	c.1021G>A	NM_001008537.3	NP_001008537.1:p.(Val341Ile)	NC_000023.10:g.73963371C>T	(Likely) benign	1 lab	e81f8bb138
1:152084618 TCHH TCTC>T	1	152084618	152084629	TCTC	T	TCHH	c.1072_1074del	NM_007113.4	NP_009044.2:p.(Glu358del)	NC_000001.10:g.152084627_152084629del	VUS	1 lab	dbc58647b1
7:55249063 EGFR G>A	7	55249063	55249063	G	A	EGFR	c.2361G>A	NM_005228.5	NP_005219.2:p.(Gln787=)	NC_000007.13:g.55249063G>A	(Likely) benign	1 lab	dbc5df4f33
2:50692591 NRXN1 A>C	2	50692591	50692591	A	C	NRXN1	c.3473T>G	NM_001135659.3	NP_001129131.1:p.(Leu1158Arg)	NC_000002.11:g.50692591A>C	VUS	1 lab	dbc6236124
2:20137622 WDR35 T>C	2	20137622	20137622	T	C	WDR35	c.2182A>G	NM_001006657.2	NP_001006658.1:p.(Ile728Val)	NC_000002.11:g.20137622T>C	(Likely) benign	1 lab	e8305b2ca5
16:89617064 SPG7 G>C	16	89617064	89617064	G	C	SPG7	c.1779+47G>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89617064G>C	(Likely) benign	1 lab	e835876077
11:118373178 KMT2A C>A	11	118373178	118373178	C	A	KMT2A	c.6571C>A	NM_001197104.1	NP_001184033.1:p.(Arg2191=)	NC_000011.9:g.118373178C>A	(Likely) benign	1 lab	e838db5314
4:151752951 LRBA T>C	4	151752951	151752951	T	C	LRBA	c.4729+18A>G	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151752951T>C	(Likely) benign	1 lab	e83dee82bc
12:110017737 MVK C>G	12	110017737	110017737	C	G	MVK	c.357C>G	NM_000431.2	NP_000422.1:p.(Ile119Met)	NC_000012.11:g.110017737C>G	(Likely) pathogenic	1 lab	e83e4abd78
2:168101386 XIRP2 G>A	2	168101386	168101386	G	A	XIRP2	c.3484G>A	NM_152381.6	NP_689594.4:p.(Val1162Ile)	NC_000002.11:g.168101386G>A	(Likely) benign	1 lab	e840270e49
5:77471656 AP3B1 C>T	5	77471656	77471656	C	T	AP3B1	c.900G>A	NM_001271769.2	NP_001258698.1:p.(Val300=)	NC_000005.9:g.77471656C>T	(Likely) benign	1 lab	e844ac01d4
X:19371317 PDHA1 T>C	X	19371317	19371317	T	C	PDHA1	c.510+26T>C	NM_000284.4	NP_000275.1:p.?	NC_000023.10:g.19371317T>C	(Likely) benign	1 lab	dbc62f6124
5:37183336 CPLANE1 T>C	5	37183336	37183336	T	C	CPLANE1	c.4947A>G	NM_023073.3	NP_075561.3:p.(Ser1649=)	NC_000005.9:g.37183336T>C	(Likely) benign	1 lab	e84a404e2b
15:93541999 CHD2 G>C	15	93541999	93541999	G	C	CHD2	c.4008+148G>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93541999G>C	(Likely) benign	1 lab	e84c160c96
2:31754345 SRD5A2 G>A	2	31754345	31754345	G	A	SRD5A2	c.698+32C>T	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31754345G>A	(Likely) benign	1 lab	e84d2968b3
6:32811645 PSMB8 A>G	6	32811645	32811645	A	G	PSMB8	c.129T>C	NM_148919.4	NP_683720.2:p.(Ala43=)	NC_000006.11:g.32811645A>G	(Likely) benign	1 lab	e851d299c6
1:205129232 DSTYK C>T	1	205129232	205129232	C	T	DSTYK	c.2105+10G>A	NM_015375.3	NP_056190.1:p.?	NC_000001.10:g.205129232C>T	(Likely) benign	1 lab	e85458b2f1
17:48157612 ITGA3 C>T	17	48157612	48157612	C	T	ITGA3	c.2707-14C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48157612C>T	(Likely) benign	1 lab	e856722fc5
8:133192269 KCNQ3 T>C	8	133192269	133192269	T	C	KCNQ3	c.777+135A>G	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133192269T>C	(Likely) benign	1 lab	e85db1fc8b
2:179439560 TTN G>A	2	179439560	179439560	G	A	TTN	c.44479C>T	NM_133432.3	NP_597676.3:p.(Arg14827Trp)	NC_000002.11:g.179439560G>A	VUS	1 lab	e8632f9a4b
2:191841606 STAT1 T>C	2	191841606	191841606	T	C	STAT1	c.2019A>G	NM_007315.3	NP_009330.1:p.(Lys673=)	NC_000002.11:g.191841606T>C	(Likely) benign	1 lab	e8653d2617
8:17927474 ASAH1 G>C	8	17927474	17927474	G	C	ASAH1	c.265-87C>G	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17927474G>C	(Likely) benign	1 lab	e866bfdbf9
19:45898774 PPP1R13L G>T	19	45898774	45898774	G	T	PPP1R13L	c.1274C>A	NM_006663.4	NP_006654.2:p.(Pro425His)	NC_000019.9:g.45898774G>T	VUS	1 lab	e869e4aeaa
X:53574627 HUWE1 C>T	X	53574627	53574627	C	T	HUWE1	c.10636+7G>A	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53574627C>T	(Likely) benign	1 lab	e86ca674a7
12:58200284 AVIL A>T	12	58200284	58200284	A	T	AVIL	c.1530T>A	NM_006576.3	NP_006567.3:p.(Pro510=)	NC_000012.11:g.58200284A>T	(Likely) benign	1 lab	e86e15be06
6:51889515 PKHD1 T>C	6	51889515	51889515	T	C	PKHD1	c.5093A>G	NM_138694.4	NP_619639.3:p.(Asn1698Ser)	NC_000006.11:g.51889515T>C	(Likely) benign	1 lab	e870e7f94f
13:39435771 FREM2 C>T	13	39435771	39435771	C	T	FREM2	c.7651+72C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435771C>T	(Likely) benign	1 lab	e875f0014f
11:108206685 ATM T>C	11	108206685	108206685	T	C	ATM	c.8265T>C	NM_000051.3	NP_000042.3:p.(Tyr2755=)	NC_000011.9:g.108206685T>C	(Likely) benign	1 lab	e88352e633
5:122714134 CEP120 TAAAAA>T	5	122714134	122714152	TAAAAA	T	CEP120	c.2104-17_2104-13del	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122714148_122714152del	(Likely) benign	1 lab	e88359e2f3
X:49846390 CLCN5 G>A	X	49846390	49846390	G	A	CLCN5	c.609=	NM_000084.5	NP_000075.1:p.(Ser203=)	NC_000023.10:g.49846390G>A	(Likely) benign	1 lab	e88716a60a
18:2951284 LPIN2 G>T	18	2951284	2951284	G	T	LPIN2	c.359C>A	NM_014646.2	NP_055461.1:p.(Thr120Asn)	NC_000018.9:g.2951284G>T	(Likely) benign	1 lab	e8876d4ca1
1:247587266 NLRP3 T>C	1	247587266	247587266	T	C	NLRP3	c.515T>C	NM_001243133.2	NP_001230062.1:p.(Ile172Thr)	NC_000001.10:g.247587266T>C	(Likely) pathogenic	1 lab	e88bc9748b
16:3293378 MEFV G>A	16	3293378	3293378	G	A	MEFV	c.2109C>T	NM_000243.2	NP_000234.1:p.(Ser703=)	NC_000016.9:g.3293378G>A	(Likely) benign	1 lab	e88f9ed7ea
22:51065626 ARSA G>A	22	51065626	51065626	G	A	ARSA	c.433C>T	NM_000487.6	NP_000478.3:p.(Arg145Ter)	NC_000022.10:g.51065626G>A	(Likely) pathogenic	1 lab	e890a0e499
17:5461871 NLRP1 A>G	17	5461871	5461871	A	G	NLRP1	c.2145T>C	NM_033004.4	NP_127497.1:p.(Ser715=)	NC_000017.10:g.5461871A>G	(Likely) benign	1 lab	e8930da0b7
12:58204145 AVIL T>C	12	58204145	58204145	T	C	AVIL	c.748A>G	NM_006576.3	NP_006567.3:p.(Ile250Val)	NC_000012.11:g.58204145T>C	(Likely) benign	1 lab	e8957e2787
9:138667409 KCNT1 A>G	9	138667409	138667409	A	G	KCNT1	c.2349+148A>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138667409A>G	(Likely) benign	1 lab	e89b02a3dd
11:792735 SLC25A22 C>G	11	792735	792735	C	G	SLC25A22	c.413-8G>C	NM_001191060.1	NP_001177989.1:p.?	NC_000011.9:g.792735C>G	(Likely) benign	1 lab	e89e08d293
11:20676417 SLC6A5 C>T	11	20676417	20676417	C	T	SLC6A5	c.*3C>T	NM_004211.5	NP_004202.4:p.?	NC_000011.9:g.20676417C>T	(Likely) benign	1 lab	dbc7210ba1
7:156798552 MNX1 G>A	7	156798552	156798552	G	A	MNX1	c.232C>T	NM_001165255.1	NP_001158727.1:p.(Gln78Ter)	NC_000007.13:g.156798552G>A	(Likely) pathogenic	1 lab	e8a7f95953
3:10188428 VHL T>G	3	10188428	10188428	T	G	VHL	c.463+108T>G	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10188428T>G	(Likely) benign	1 lab	e8a9f83928
1:22447809 WNT4 G>A	1	22447809	22447809	G	A	WNT4	c.483C>T	NM_030761.5	NP_110388.2:p.(Tyr161=)	NC_000001.10:g.22447809G>A	(Likely) benign	1 lab	e8aae4f385
5:147486677 SPINK5 C>A	5	147486677	147486677	C	A	SPINK5	c.1557C>A	NM_001127698.2	NP_001121170.1:p.(Gly519=)	NC_000005.9:g.147486677C>A	(Likely) benign	1 lab	dbca4e29f7
8:22865211 RHOBTB2 C>T	8	22865211	22865211	C	T	RHOBTB2	c.1519C>T	NM_001160036.2	NP_001153508.1:p.(Arg507Cys)	NC_000008.10:g.22865211C>T	(Likely) pathogenic	1 lab	e8ad839226
17:41055964 G6PC C>T	17	41055964	41055964	C	T	G6PC				NC_000017.10:g.41055964C>T	(Likely) pathogenic	1 lab	e8b08bca84
2:202494159 TMEM237 G>T	2	202494159	202494159	G	T	TMEM237	c.678-15C>A	NM_001044385.3	NP_001037850.1:p.?	NC_000002.11:g.202494159G>T	(Likely) benign	1 lab	e8b1048037
20:62103554 KCNQ2 G>A	20	62103554	62103554	G	A	KCNQ2	c.263C>T	NM_172107.4	NP_742105.1:p.(Pro88Leu)	NC_000020.10:g.62103554G>A	(Likely) pathogenic	1 lab	e8bacadbd9
19:17877574 FCHO1 G>A	19	17877574	17877574	G	A	FCHO1	c.291G>A	NM_015122.3	NP_055937.1:p.(Lys97=)	NC_000019.9:g.17877574G>A	(Likely) benign	1 lab	e8bc057151
1:120462998 NOTCH2 G>C	1	120462998	120462998	G	C	NOTCH2	c.5333C>G	NM_024408.4	NP_077719.2:p.(Ser1778Ter)	NC_000001.10:g.120462998G>C	(Likely) pathogenic	1 lab	e8bde75efe
8:30942669 WRN CT>C	8	30942669	30942677	CT	C	WRN	c.1351-5del	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30942677del	(Likely) benign	1 lab	e8c1b45f0c
20:30419614 MYLK2 C>T	20	30419614	30419614	C	T	MYLK2	c.1533C>T	NM_033118.3	NP_149109.1:p.(Asp511=)	NC_000020.10:g.30419614C>T	(Likely) benign	1 lab	e8c6c09eb5
17:73728061 ITGB4 C>T	17	73728061	73728061	C	T	ITGB4	c.1377+7C>T	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73728061C>T	(Likely) benign	1 lab	e8c7bf8301
11:124765039 ROBO4 C>G	11	124765039	124765039	C	G	ROBO4	c.1087G>C	NM_019055.6	NP_061928.4:p.(Val363Leu)	NC_000011.9:g.124765039C>G	(Likely) benign	1 lab	e8c898ac43
7:140476779 BRAF T>C	7	140476779	140476779	T	C	BRAF	c.1627A>G	NM_004333.6	NP_004324.2:p.(Ile543Val)	NC_000007.13:g.140476779T>C	VUS	1 lab	dbca90ab7b
16:57490400 COQ9 G>C	16	57490400	57490400	G	C	COQ9	c.379-16G>C	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57490400G>C	(Likely) benign	1 lab	e8da7ad482
2:215880247 ABCA12 C>G	2	215880247	215880247	C	G	ABCA12	c.1923G>C	NM_173076.3	NP_775099.2:p.(Leu641=)	NC_000002.11:g.215880247C>G	(Likely) benign	1 lab	e8ddcd2864
1:206589233 MISSING TC>T	1	206589233	206589235	TC	T	MISSING				NC_000001.10:g.206589235del	(Likely) benign	1 lab	e8e255d426
2:51254901 NRXN1 G>A	2	51254901	51254901	G	A	NRXN1	c.511C>T	NM_001135659.2	NP_001129131.1:p.(Leu171=)	NC_000002.11:g.51254901G>A	(Likely) benign	1 lab	e8e585b8e5
22:37533615 IL2RB C>T	22	37533615	37533615	C	T	IL2RB	c.537+12G>A	NM_000878.5	NP_000869.1:p.?	NC_000022.10:g.37533615C>T	(Likely) benign	1 lab	e8ebcbcda8
7:75693722 MDH2 C>T	7	75693722	75693722	C	T	MDH2	c.699C>T	NM_005918.3	NP_005909.2:p.(Ala233=)	NC_000007.13:g.75693722C>T	(Likely) benign	1 lab	e8efc0c2b3
12:98927088 TMPO G>A	12	98927088	98927088	G	A	TMPO	c.1053G>A	NM_003276.2	NP_003267.1:p.(Ser351=)	NC_000012.11:g.98927088G>A	(Likely) benign	1 lab	e8f10b52bf
5:1403024 SLC6A3 T>C	5	1403024	1403024	T	C	SLC6A3	c.1767+13A>G	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1403024T>C	(Likely) benign	1 lab	dbce4f8f58
6:32551946 HLA-DRB1 CCG>C	6	32551946	32551950	CCG	C	HLA-DRB1	c.308_309del	NM_002124.4	NP_002115.2:p.(Ala103GlyfsTer24)	NC_000006.11:g.32551949_32551950del	(Likely) benign	1 lab	e8f2999340
X:32459304 DMD A>G	X	32459304	32459304	A	G	DMD	c.3914T>C	NM_004006.2	NP_003997.1:p.(Val1305Ala)	NC_000023.10:g.32459304A>G	VUS	1 lab	e8f54434e2
1:47882024 FOXE3 T>G	1	47882024	47882024	T	G	FOXE3	c.37T>G	NM_012186.3	NP_036318.1:p.(Phe13Val)	NC_000001.10:g.47882024T>G	VUS	1 lab	e8f6795825
10:100481427 HPSE2 C>T	10	100481427	100481427	C	T	HPSE2	c.943G>A	NM_021828.4	NP_068600.4:p.(Ala315Thr)	NC_000010.10:g.100481427C>T	(Likely) benign	1 lab	e8f9696eb1
2:166894209 SCN1A T>C	2	166894209	166894209	T	C	SCN1A	c.2946+77A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166894209T>C	(Likely) benign	1 lab	e8f9e93034
22:35783136 HMOX1 A>G	22	35783136	35783136	A	G	HMOX1	c.603A>G	NM_002133.3	NP_002124.1:p.(Glu201=)	NC_000022.10:g.35783136A>G	(Likely) benign	1 lab	e8fbc8780c
10:102510464 PAX2 G>A	10	102510464	102510464	G	A	PAX2	c.226G>A	NM_003988.5	NP_003979.2:p.(Gly76Ser)	NC_000010.10:g.102510464G>A	(Likely) pathogenic	1 lab	e90258d012
7:30702347 CRHR2 C>G	7	30702347	30702347	C	G	CRHR2	c.618G>C	NM_001202481.1	NP_001189410.1:p.(Glu206Asp)	NC_000007.13:g.30702347C>G	(Likely) benign	1 lab	e90a4d0b77
17:27064988 NEK8 C>T	17	27064988	27064988	C	T	NEK8	c.1041C>T	NM_178170.3	NP_835464.1:p.(Val347=)	NC_000017.10:g.27064988C>T	(Likely) benign	1 lab	e90af2ddc6
16:1263781 CACNA1H G>A	16	1263781	1263781	G	A	CACNA1H	c.4779G>A	NM_021098.3	NP_066921.2:p.(Glu1593=)	NC_000016.9:g.1263781G>A	(Likely) benign	1 lab	e90b6fb572
1:155261633 PKLR C>T	1	155261633	155261633	C	T	PKLR	c.1532G>A	NM_000298.6	NP_000289.1:p.(Gly511Glu)	NC_000001.10:g.155261633C>T	(Likely) pathogenic	1 lab	e90d8e20e0
9:138684070 KCNT1 G>A	9	138684070	138684070	G	A	KCNT1	c.*63G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138684070G>A	(Likely) benign	1 lab	e90e14221b
6:33651104 ITPR3 C>T	6	33651104	33651104	C	T	ITPR3	c.4718C>T	NM_002224.3	NP_002215.2:p.(Thr1573Met)	NC_000006.11:g.33651104C>T	(Likely) benign	1 lab	e90f8dc5f3
5:14487903 TRIO C>T	5	14487903	14487903	C	T	TRIO	c.7166C>T	NM_007118.4	NP_009049.2:p.(Ala2389Val)	NC_000005.9:g.14487903C>T	(Likely) benign	1 lab	e91676fa20
12:98926691 TMPO T>C	12	98926691	98926691	T	C	TMPO	c.656T>C	NM_003276.2	NP_003267.1:p.(Phe219Ser)	NC_000012.11:g.98926691T>C	(Likely) benign	1 lab	e918b363ca
1:16377598 CLCNKB T>TG	1	16377598	16377604	T	TG	CLCNKB	c.1227+61dup	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16377604dup	(Likely) benign	1 lab	e91a674ead
20:17968871 MGME1 C>T	20	17968871	17968871	C	T	MGME1	c.794C>T	NM_052865.4	NP_443097.1:p.(Thr265Ile)	NC_000020.10:g.17968871C>T	(Likely) benign	1 lab	e91d05deb7
X:53600842 HUWE1 C>T	X	53600842	53600842	C	T	HUWE1	c.6180G>A	NM_031407.7	NP_113584.3:p.(Lys2060=)	NC_000023.10:g.53600842C>T	(Likely) benign	1 lab	e91d9cbc22
16:2105484 TSC2 G>A	16	2105484	2105484	G	A	TSC2	c.563G>A	NM_000548.3	NP_000539.2:p.(Ser188Asn)	NC_000016.9:g.2105484G>A	VUS	1 lab	e9215e2e34
11:9200585 DENND5A A>T	11	9200585	9200585	A	T	DENND5A	c.1491T>A	NM_015213.4	NP_056028.2:p.(Asp497Glu)	NC_000011.9:g.9200585A>T	(Likely) benign	1 lab	e923df6a19
12:110028575 MVK G>A	12	110028575	110028575	G	A	MVK	c.678-1G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110028575G>A	(Likely) pathogenic	1 lab	e92a6100b3
19:13565822 CACNA1A T>C	19	13565822	13565822	T	C	CACNA1A	c.399+99A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13565822T>C	(Likely) benign	1 lab	e9331e602b
8:145639675 SLC39A4 C>T	8	145639675	145639675	C	T	SLC39A4	c.1120G>A	NM_130849.4	NP_570901.3:p.(Gly374Arg)	NC_000008.10:g.145639675C>T	(Likely) pathogenic	1 lab	e935914eeb
5:176631120 NSD1 G>A	5	176631120	176631120	G	A	NSD1	c.1064-1G>A	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176631120G>A	(Likely) pathogenic	1 lab	dbd326be75
17:40843295 CNTNAP1 G>A	17	40843295	40843295	G	A	CNTNAP1	c.2200G>A	NM_003632.3	NP_003623.1:p.(Ala734Thr)	NC_000017.10:g.40843295G>A	VUS	1 lab	dbd3de69bd
11:32437872 WT1 T>A	11	32437872	32437872	T	A	WT1				NC_000011.9:g.32437872T>A	(Likely) benign	1 lab	e9386f465b
6:85446963 TBX18 G>A	6	85446963	85446963	G	A	TBX18	c.1264C>T	NM_001080508.3	NP_001073977.1:p.(Arg422Cys)	NC_000006.11:g.85446963G>A	VUS	1 lab	e93a7df6ab
17:73727009 ITGB4 G>A	17	73727009	73727009	G	A	ITGB4	c.1056G>A	NM_000213.5	NP_000204.3:p.(Ser352=)	NC_000017.10:g.73727009G>A	(Likely) benign	1 lab	e93b5fa8c3
16:89596106 SPG7 C>T	16	89596106	89596106	C	T	SPG7	c.861+119C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89596106C>T	(Likely) benign	1 lab	ebef75863f
17:73830094 UNC13D A>G	17	73830094	73830094	A	G	UNC13D	c.2367+62T>C	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73830094A>G	(Likely) benign	1 lab	e93bb5a48d
2:166866305 SCN1A A>C	2	166866305	166866305	A	C	SCN1A	c.3926T>G	NM_001165963.3	NP_001159435.1:p.(Leu1309Arg)	NC_000002.11:g.166866305A>C	(Likely) pathogenic	1 lab	e942707ca9
4:1219307 CTBP1 C>T	4	1219307	1219307	C	T	CTBP1	c.388G>A	NM_001328.3	NP_001319.1:p.(Asp130Asn)	NC_000004.11:g.1219307C>T	VUS	1 lab	dbd6c742c6
1:158612719 SPTA1 C>T	1	158612719	158612719	C	T	SPTA1	c.4490G>A	NM_003126.3	NP_003117.2:p.(Gly1497Glu)	NC_000001.10:g.158612719C>T	(Likely) benign	1 lab	e94c67afbc
X:106116920 TBC1D8B G>A	X	106116920	106116920	G	A	TBC1D8B	c.3088G>A	NM_017752.3	NP_060222.2:p.(Gly1030Arg)	NC_000023.10:g.106116920G>A	(Likely) benign	1 lab	e957b18ae5
2:179542440 TTN G>A	2	179542440	179542440	G	A	TTN	c.34199C>T	NM_001267550.1	NP_001254479.1:p.(Pro11400Leu)	NC_000002.11:g.179542440G>A	(Likely) benign	1 lab	e95a0508e4
8:41575439 ANK1 G>A	8	41575439	41575439	G	A	ANK1	c.1206+185C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41575439G>A	(Likely) benign	1 lab	e95a4a599b
2:166856243 SCN1A T>G	2	166856243	166856243	T	G	SCN1A	c.4328A>C	NM_001165963.3	NP_001159435.1:p.(Asp1443Ala)	NC_000002.11:g.166856243T>G	(Likely) pathogenic	1 lab	e95e7e2ed6
2:166848765 SCN1A C>T	2	166848765	166848765	C	T	SCN1A	c.5020G>A	NM_001165963.3	NP_001159435.1:p.(Gly1674Ser)	NC_000002.11:g.166848765C>T	(Likely) benign	1 lab	e95e9ddd9d
5:161300138 GABRA1 G>T	5	161300138	161300138	G	T	GABRA1	c.271G>T	NM_000806.5	NP_000797.2:p.(Val91Leu)	NC_000005.9:g.161300138G>T	(Likely) pathogenic	1 lab	e96214387b
20:60887674 LAMA5 C>T	20	60887674	60887674	C	T	LAMA5	c.9227+14G>A	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60887674C>T	(Likely) benign	1 lab	e9657d1faf
X:100653015 GLA C>G	X	100653015	100653015	C	G	GLA	c.1072G>C	NM_000169.2	NP_000160.1:p.(Glu358Gln)	NC_000023.10:g.100653015C>G	(Likely) pathogenic	1 lab	e9662ab07d
5:55250837 IL6ST G>GAATATTGA	5	55250837	55250849	G	GAATATTGA	IL6ST	c.1268-25_1268-18dup	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55250842_55250849dup	(Likely) benign	1 lab	e96e750b2a
6:138200107 TNFAIP3 G>A	6	138200107	138200107	G	A	TNFAIP3	c.1525G>A	NM_006290.4	NP_006281.1:p.(Ala509Thr)	NC_000006.11:g.138200107G>A	(Likely) benign	1 lab	e96f414e44
1:158632538 SPTA1 C>T	1	158632538	158632538	C	T	SPTA1	c.2418G>A	NM_003126.3	NP_003117.2:p.(Glu806=)	NC_000001.10:g.158632538C>T	(Likely) benign	1 lab	e9712f8956
15:25650694 UBE3A C>T	15	25650694	25650694	C	T	UBE3A	c.30-45G>A	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25650694C>T	(Likely) benign	1 lab	e97333d693
20:35521460 SAMHD1 C>A	20	35521460	35521460	C	A	SAMHD1	c.1756G>T	NM_015474.3	NP_056289.2:p.(Val586Phe)	NC_000020.10:g.35521460C>A	VUS	1 lab	e974a1bced
14:105169733 INF2 C>T	14	105169733	105169733	C	T	INF2	c.609C>T	NM_022489.3	NP_071934.3:p.(Ala203=)	NC_000014.8:g.105169733C>T	(Likely) benign	1 lab	e97694094e
2:166892449 SCN1A A>T	2	166892449	166892449	A	T	SCN1A	c.3429+109T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166892449A>T	(Likely) benign	1 lab	e977f6661b
16:5121886 ALG1 T>C	16	5121886	5121886	T	C	ALG1	c.36T>C	NM_019109.4	NP_061982.3:p.(Cys12=)	NC_000016.9:g.5121886T>C	(Likely) benign	1 lab	e979e76ca6
10:75866973 VCL A>G	10	75866973	75866973	A	G	VCL	c.2435-15A>G	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75866973A>G	(Likely) benign	1 lab	e982c3d07f
1:161518288 FCGR3A A>T	1	161518288	161518288	A	T	FCGR3A	c.557T>A	NM_000569.7	NP_000560.6:p.(Val186Asp)	NC_000001.10:g.161518288A>T	VUS	1 lab	e9872540fb
17:26864397 FOXN1 C>T	17	26864397	26864397	C	T	FOXN1	c.1890C>T	NM_003593.2	NP_003584.2:p.(Ala630=)	NC_000017.10:g.26864397C>T	(Likely) benign	1 lab	e988a633d6
11:64577221 MEN1 CCTT>C	11	64577221	64577228	CCTT	C	MEN1	c.358_360del	NM_001370259.2	NP_001357188.2:p.(Lys120del)	NC_000011.9:g.64577226_64577228del	(Likely) pathogenic	1 lab	e98d024f49
5:151272011 GLRA1 G>A	5	151272011	151272011	G	A	GLRA1	c.57-12C>T	NM_001146040.2	NP_001139512.1:p.?	NC_000005.9:g.151272011G>A	(Likely) benign	1 lab	e98d540614
11:36518824 TRAF6 T>TA	11	36518824	36518831	T	TA	TRAF6	c.448-9dup	NM_145803.3	NP_665802.1:p.?	NC_000011.9:g.36518831dup	(Likely) benign	1 lab	e98e960ba8
1:33476353 AK2 C>T	1	33476353	33476353	C	T	AK2				NC_000001.10:g.33476353C>T	(Likely) benign	1 lab	e99314aa7d
12:10277906 CLEC7A G>A	12	10277906	10277906	G	A	CLEC7A	c.482C>T	NM_197947.2	NP_922938.1:p.(Ser161Leu)	NC_000012.11:g.10277906G>A	(Likely) benign	1 lab	e995a8c08e
12:109547675 ACACB G>T	12	109547675	109547675	G	T	ACACB				NC_000012.11:g.109547675G>T	(Likely) benign	1 lab	e99609c558
16:3298865 MEFV T>C	16	3298865	3298865	T	C	MEFV	c.1356+44A>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3298865T>C	(Likely) benign	1 lab	e9969b8e87
5:94879039 SKIC3 A>T	5	94879039	94879039	A	T	SKIC3	c.91-8T>A	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94879039A>T	(Likely) benign	1 lab	e996c137af
15:89864250 POLG G>C	15	89864250	89864250	G	C	POLG	c.2735-7C>G	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89864250G>C	(Likely) benign	1 lab	e99808ba8c
10:43609994 RET C>T	10	43609994	43609994	C	T	RET	c.1946C>T	NM_020975.4	NP_066124.1:p.(Ser649Leu)	NC_000010.10:g.43609994C>T	(Likely) benign	1 lab	e99a173454
11:68530090 CPT1A A>G	11	68530090	68530090	A	G	CPT1A	c.1875+5T>C	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68530090A>G	(Likely) benign	1 lab	dbddef7d45
17:12903599 ELAC2 A>G	17	12903599	12903599	A	G	ELAC2	c.1305-8T>C	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12903599A>G	(Likely) benign	1 lab	dbe0d67b55
2:217329445 SMARCAL1 A>C	2	217329445	217329445	A	C	SMARCAL1	c.2141+55A>C	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217329445A>C	(Likely) benign	1 lab	e9a6e0b54d
1:39788323 MACF1 C>T	1	39788323	39788323	C	T	MACF1	c.4088C>T	NM_012090.5	NP_036222.3:p.(Ser1363Leu)	NC_000001.10:g.39788323C>T	VUS	1 lab	dbe13cb0da
1:160323907 NCSTN G>A	1	160323907	160323907	G	A	NCSTN	c.1180-1G>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160323907G>A	(Likely) pathogenic	1 lab	e9a99e9ad5
2:170349498 BBS5 T>A	2	170349498	170349498	T	A	BBS5	c.501T>A	NM_152384.3	NP_689597.1:p.(Val167=)	NC_000002.11:g.170349498T>A	(Likely) benign	1 lab	e9b03f73c7
8:2000409 MYOM2 G>A	8	2000409	2000409	G	A	MYOM2	c.241G>A	NM_003970.4	NP_003961.3:p.(Glu81Lys)	NC_000008.10:g.2000409G>A	(Likely) benign	1 lab	e9b0648fcc
8:17869330 PCM1 T>C	8	17869330	17869330	T	C	PCM1	c.5505T>C	NM_006197.4	NP_006188.4:p.(Asp1835=)	NC_000008.10:g.17869330T>C	(Likely) benign	1 lab	e9b632579c
1:5940298 NPHP4 A>G	1	5940298	5940298	A	G	NPHP4	c.2487T>C	NM_015102.5	NP_055917.1:p.(Gly829=)	NC_000001.10:g.5940298A>G	(Likely) benign	1 lab	e9b858d241
14:75356070 DLST A>ATT	14	75356070	75356090	A	ATT	DLST	c.274+37_274+38dup	NM_001933.5	NP_001924.2:p.?	NC_000014.8:g.75356089_75356090dup	(Likely) benign	1 lab	e9b9fab177
1:207499086 CD55 A>G	1	207499086	207499086	A	G	CD55	c.578+20A>G	NM_001114752.3	NP_001108224.1:p.?	NC_000001.10:g.207499086A>G	(Likely) benign	1 lab	e9bd3293f1
15:44881544 SPG11 G>GA	15	44881544	44881547	G	GA	SPG11	c.4811dup	NM_025137.4	NP_079413.3:p.(Leu1605ProfsTer10)	NC_000015.9:g.44881547dup	(Likely) pathogenic	1 lab	dbe27e0dc9
5:176919607 PDLIM7 C>G	5	176919607	176919607	C	G	PDLIM7	c.168G>C	NM_005451.5	NP_005442.2:p.(Glu56Asp)	NC_000005.9:g.176919607C>G	(Likely) benign	1 lab	e9c0eecaba
17:44952586 WNT9B G>A	17	44952586	44952586	G	A	WNT9B	c.454G>A	NM_003396.3	NP_003387.1:p.(Glu152Lys)	NC_000017.10:g.44952586G>A	(Likely) benign	1 lab	e9c3c29a63
19:54307322 NLRP12 G>A	19	54307322	54307322	G	A	NLRP12	c.2469C>T	NM_144687.4	NP_653288.1:p.(Leu823=)	NC_000019.9:g.54307322G>A	(Likely) benign	1 lab	e9c46e72a0
2:73827821 ALMS1 G>A	2	73827821	73827821	G	A	ALMS1	c.11688G>A	NM_015120.4	NP_055935.4:p.(Val3896=)	NC_000002.11:g.73827821G>A	(Likely) benign	1 lab	e9c5901a8b
4:79362209 FRAS1 A>G	4	79362209	79362209	A	G	FRAS1	c.5530-107A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79362209A>G	(Likely) benign	1 lab	e9c60af496
5:90119123 ADGRV1 G>GA	5	90119123	90119124	G	GA	ADGRV1	c.16197-118dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90119124dup	(Likely) benign	1 lab	e9c6299420
16:11349196 SOCS1 G>GCCGGGA	16	11349196	11349205	G	GCCGGGA	SOCS1	c.134_139dup	NM_003745.1	NP_003736.1:p.(Val45_Pro46dup)	NC_000016.9:g.11349200_11349205dup	(Likely) benign	1 lab	e9c78dfc00
11:111779691 CRYAB C>T	11	111779691	111779691	C	T	CRYAB	c.325G>A	NM_001885.3	NP_001876.1:p.(Asp109Asn)	NC_000011.9:g.111779691C>T	(Likely) pathogenic	1 lab	e9c9522f98
21:34926748 SON A>G	21	34926748	34926748	A	G	SON	c.5211A>G	NM_138927.2	NP_620305.2:p.(Leu1737=)	NC_000021.8:g.34926748A>G	(Likely) benign	1 lab	e9cd41cf92
8:61778333 CHD7 A>G	8	61778333	61778333	A	G	CHD7				NC_000008.10:g.61778333A>G	(Likely) benign	1 lab	e9ce086069
2:163133386 IFIH1 T>G	2	163133386	163133386	T	G	IFIH1	c.2115A>C	NM_022168.4	NP_071451.2:p.(Arg705Ser)	NC_000002.11:g.163133386T>G	VUS	1 lab	e9d245a0e2
2:166848584 SCN1A A>G	2	166848584	166848584	A	G	SCN1A	c.5201T>C	NM_001165963.3	NP_001159435.1:p.(Leu1734Pro)	NC_000002.11:g.166848584A>G	(Likely) pathogenic	1 lab	e9d4fc8587
18:19345892 MIB1 C>T	18	19345892	19345892	C	T	MIB1	c.389C>T	NM_020774.3	NP_065825.1:p.(Pro130Leu)	NC_000018.9:g.19345892C>T	VUS	1 lab	e9db15289d
16:3304490 MEFV G>A	16	3304490	3304490	G	A	MEFV	c.578C>T	NM_000243.2	NP_000234.1:p.(Ala193Val)	NC_000016.9:g.3304490G>A	VUS	1 lab	e9dbd049a0
12:6457045 SCNN1A C>A	12	6457045	6457045	C	A	SCNN1A	c.2004G>T	NM_001038.6	NP_001029.1:p.(Gly668=)	NC_000012.11:g.6457045C>A	(Likely) benign	1 lab	e9dcded877
22:36708279 MYH9 G>A	22	36708279	36708279	G	A	MYH9	c.1555-12C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36708279G>A	(Likely) benign	1 lab	e9decbe053
19:17943666 JAK3 A>G	19	17943666	17943666	A	G	JAK3	c.2423T>C	NM_000215.3	NP_000206.2:p.(Leu808Pro)	NC_000019.9:g.17943666A>G	(Likely) benign	1 lab	e9df0864b6
17:45000565 GOSR2 C>A	17	45000565	45000565	C	A	GOSR2	c.7C>A	NM_004287.4	NP_004278.2:p.(Pro3Thr)	NC_000017.10:g.45000565C>A	(Likely) benign	1 lab	e9e4b8cc81
4:72425863 SLC4A4 C>T	4	72425863	72425863	C	T	SLC4A4	c.2991C>T	NM_001098484.3	NP_001091954.1:p.(His997=)	NC_000004.11:g.72425863C>T	(Likely) benign	1 lab	dbe3cea31d
17:6515341 KIAA0753 G>A	17	6515341	6515341	G	A	KIAA0753	c.1443C>T	NM_014804.3	NP_055619.2:p.(Asp481=)	NC_000017.10:g.6515341G>A	(Likely) benign	1 lab	e9e8473a69
3:43618213 ANO10 C>T	3	43618213	43618213	C	T	ANO10	c.1133G>A	NM_018075.5	NP_060545.3:p.(Arg378Gln)	NC_000003.11:g.43618213C>T	(Likely) benign	1 lab	e9ea49726b
9:14841535 FREM1 A>G	9	14841535	14841535	A	G	FREM1	c.1791T>C	NM_144966.5	NP_659403.4:p.(Tyr597=)	NC_000009.11:g.14841535A>G	(Likely) benign	1 lab	e9eff01c8c
6:51524159 PKHD1 G>A	6	51524159	51524159	G	A	PKHD1	c.10765C>T	NM_138694.4	NP_619639.3:p.(Gln3589Ter)	NC_000006.11:g.51524159G>A	(Likely) pathogenic	1 lab	e9f20c0637
14:65263590 SPTB C>CT	14	65263590	65263593	C	CT	SPTB	c.1183-158dup	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65263593dup	(Likely) benign	1 lab	e9f6dc0abd
1:247597211 NLRP3 T>C	1	247597211	247597211	T	C	NLRP3	c.2322-194T>C	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597211T>C	(Likely) benign	1 lab	e9f958dfbd
1:247582248 NLRP3 A>G	1	247582248	247582248	A	G	NLRP3	c.146A>G	NM_001243133.2	NP_001230062.1:p.(His49Arg)	NC_000001.10:g.247582248A>G	VUS	1 lab	ea02785b6a
18:12353154 AFG3L2 G>A	18	12353154	12353154	G	A	AFG3L2	c.1168C>T	NM_006796.3	NP_006787.2:p.(Arg390Ter)	NC_000018.9:g.12353154G>A	(Likely) pathogenic	1 lab	dbea1ad23e
X:47432215 SYN1 G>T	X	47432215	47432215	G	T	SYN1	c.*48C>A	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47432215G>T	(Likely) benign	1 lab	ea0fd0ccce
7:70230074 AUTS2 G>T	7	70230074	70230074	G	T	AUTS2	c.1468+83G>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70230074G>T	(Likely) benign	1 lab	ea1060f907
21:35147382 ITSN1 C>T	21	35147382	35147382	C	T	ITSN1	c.1566C>T	NM_003024.3	NP_003015.2:p.(Ala522=)	NC_000021.8:g.35147382C>T	(Likely) benign	1 lab	ea13437245
13:39454640 FREM2 C>T	13	39454640	39454640	C	T	FREM2	c.9226C>T	NM_207361.6	NP_997244.4:p.(Gln3076Ter)	NC_000013.10:g.39454640C>T	(Likely) pathogenic	1 lab	ea149ed859
8:61725221 CHD7 C>CA	8	61725221	61725238	C	CA	CHD7	c.2499-3708dup	NM_017780.2	NP_060250.2:p.?	NC_000008.10:g.61725238dup	(Likely) benign	1 lab	ea154d9e14
7:47930194 PKD1L1 C>T	7	47930194	47930194	C	T	PKD1L1	c.2621G>A	NM_138295.5	NP_612152.1:p.(Arg874Gln)	NC_000007.13:g.47930194C>T	(Likely) benign	1 lab	ea178c7bb9
17:4098771 ANKFY1 G>A	17	4098771	4098771	G	A	ANKFY1	c.1230-5C>T	NM_001257999.2	NP_001244928.1:p.?	NC_000017.10:g.4098771G>A	(Likely) benign	1 lab	ea1cd2423e
12:66909375 GRIP1 CA>C	12	66909375	66909376	CA	C	GRIP1	c.724+23del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66909376del	(Likely) benign	1 lab	ea2299f1a0
15:28420936 HERC2 T>C	15	28420936	28420936	T	C	HERC2	c.9687-134A>G	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28420936T>C	VUS	1 lab	dbed1346ac
9:6535956 GLDC G>C	9	6535956	6535956	G	C	GLDC	c.2838+108C>G	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6535956G>C	(Likely) benign	1 lab	ea29658cf1
22:32297621 DEPDC5 T>G	22	32297621	32297621	T	G	DEPDC5	c.4376-107T>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32297621T>G	(Likely) benign	1 lab	ea2b764b88
9:2083325 SMARCA2 G>GT	9	2083325	2083337	G	GT	SMARCA2	c.2349-10dup	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2083337dup	(Likely) benign	1 lab	ea2cb6f073
11:118183552 CD3E C>T	11	118183552	118183552	C	T	CD3E	c.323C>T	NM_000733.3	NP_000724.1:p.(Ala108Val)	NC_000011.9:g.118183552C>T	(Likely) benign	1 lab	ea2d660e2d
1:201020172 CACNA1S T>C	1	201020172	201020172	T	C	CACNA1S	c.4053A>G	NM_000069.3	NP_000060.2:p.(Thr1351=)	NC_000001.10:g.201020172T>C	(Likely) benign	1 lab	ea2ec49dae
11:117209377 CEP164 T>C	11	117209377	117209377	T	C	CEP164	c.75T>C	NM_014956.5	NP_055771.4:p.(Ser25=)	NC_000011.9:g.117209377T>C	(Likely) benign	1 lab	ea33e349eb
5:41154084 C6 C>T	5	41154084	41154084	C	T	C6	c.2118G>A	NM_000065.2	NP_000056.2:p.(Lys706=)	NC_000005.9:g.41154084C>T	(Likely) benign	1 lab	ea385ba7ab
15:48757871 FBN1 C>T	15	48757871	48757871	C	T	FBN1	c.4836G>A	NM_000138.4	NP_000129.3:p.(Glu1612=)	NC_000015.9:g.48757871C>T	(Likely) benign	1 lab	ea39d12160
4:57340379 SRP72 G>T	4	57340379	57340379	G	T	SRP72	c.498+16G>T	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57340379G>T	(Likely) benign	1 lab	ea3c566d5d
16:27715284 KATNIP G>A	16	27715284	27715284	G	A	KATNIP	c.1354G>A	NM_015202.3	NP_056017.3:p.(Val452Ile)	NC_000016.9:g.27715284G>A	(Likely) benign	1 lab	ea4e7cab44
12:8800795 MFAP5 C>T	12	8800795	8800795	C	T	MFAP5	c.414G>A	NM_003480.4	NP_003471.1:p.(Glu138=)	NC_000012.11:g.8800795C>T	(Likely) benign	1 lab	ea55b49816
5:161494990 GABRG2 GA>G	5	161494990	161495002	GA	G	GABRG2	c.-4del	NM_198904.4	NP_944494.1:p.?	NC_000005.9:g.161495002del	(Likely) benign	1 lab	ea5c9b843b
X:107807225 COL4A5 T>C	X	107807225	107807225	T	C	COL4A5	c.276+69T>C	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107807225T>C	(Likely) benign	1 lab	ea814e9dff
2:169851970 ABCB11 G>A	2	169851970	169851970	G	A	ABCB11	c.500C>T	NM_003742.4	NP_003733.2:p.(Ala167Val)	NC_000002.11:g.169851970G>A	(Likely) pathogenic	1 lab	ea5d023c8b
4:151770738 LRBA A>G	4	151770738	151770738	A	G	LRBA	c.4005-11T>C	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151770738A>G	(Likely) benign	1 lab	ea5d45ac02
10:78709165 KCNMA1 G>A	10	78709165	78709165	G	A	KCNMA1	c.2323-41C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78709165G>A	(Likely) benign	1 lab	ea64840490
17:8132782 CTC1 GAC>G	17	8132782	8132785	GAC	G	CTC1	c.3012-20_3012-19del	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8132784_8132785del	(Likely) benign	1 lab	ea6b2d2772
16:4852373 ROGDI G>A	16	4852373	4852373	G	A	ROGDI	c.117+10C>T	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4852373G>A	(Likely) benign	1 lab	ea726e6a37
14:23862727 MYH6 C>G	14	23862727	23862727	C	G	MYH6	c.2929G>C	NM_002471.3	NP_002462.2:p.(Val977Leu)	NC_000014.8:g.23862727C>G	VUS	1 lab	ea7873b36c
4:79203766 FRAS1 TA>T	4	79203766	79203770	TA	T	FRAS1	c.1108-204del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79203770del	(Likely) benign	1 lab	ea78b969b5
5:142780339 NR3C1 C>T	5	142780339	142780339	C	T	NR3C1	c.66G>A	NM_001018077.1	NP_001018087.1:p.(Glu22=)	NC_000005.9:g.142780339C>T	(Likely) benign	1 lab	ea7afa8493
1:226925103 ITPKB C>G	1	226925103	226925103	C	G	ITPKB	c.57G>C	NM_002221.3	NP_002212.3:p.(Glu19Asp)	NC_000001.10:g.226925103C>G	(Likely) benign	1 lab	ea7cb08940
11:64577220 MEN1 A>T	11	64577220	64577220	A	T	MEN1	c.362T>A	NM_000244.3	NP_000235.2:p.(Val121Asp)	NC_000011.9:g.64577220A>T	(Likely) pathogenic	1 lab	ea7cbfa5d1
12:110024561 MVK G>A	12	110024561	110024561	G	A	MVK	c.634G>A	NM_000431.2	NP_000422.1:p.(Gly212Arg)	NC_000012.11:g.110024561G>A	(Likely) pathogenic	1 lab	ea7cd951d1
9:14848802 FREM1 C>T	9	14848802	14848802	C	T	FREM1	c.1153-31G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14848802C>T	(Likely) benign	1 lab	ea7de8676a
19:50823632 KCNC3 A>G	19	50823632	50823632	A	G	KCNC3	c.2171-26T>C	NM_004977.3	NP_004968.2:p.?	NC_000019.9:g.50823632A>G	VUS	1 lab	ea817ca095
12:103240710 PAH A>G	12	103240710	103240710	A	G	PAH	c.932T>C	NM_000277.3	NP_000268.1:p.(Leu311Pro)	NC_000012.11:g.103240710A>G	(Likely) pathogenic	1 lab	ea82953a3d
1:228469801 OBSCN G>C	1	228469801	228469801	G	C	OBSCN	c.8365G>C	NM_001098623.2	NP_001092093.2:p.(Gly2789Arg)	NC_000001.10:g.228469801G>C	(Likely) benign	1 lab	ea8446b2df
15:65490756 CILP C>G	15	65490756	65490756	C	G	CILP	c.1868G>C	NM_003613.4	NP_003604.4:p.(Ser623Thr)	NC_000015.9:g.65490756C>G	VUS	1 lab	dbfee6d021
1:167825672 ADCY10 C>T	1	167825672	167825672	C	T	ADCY10	c.1902G>A	NM_018417.6	NP_060887.2:p.(Val634=)	NC_000001.10:g.167825672C>T	(Likely) benign	1 lab	ea8a209f5b
3:123419105 MYLK G>A	3	123419105	123419105	G	A	MYLK	c.3210C>T	NM_053025.3	NP_444253.3:p.(Asp1070=)	NC_000003.11:g.123419105G>A	(Likely) benign	1 lab	ea8ca08b75
6:85457756 TBX18 C>A	6	85457756	85457756	C	A	TBX18	c.821G>T	NM_001080508.3	NP_001073977.1:p.(Arg274Leu)	NC_000006.11:g.85457756C>A	VUS	1 lab	ea929aeef7
1:228346058 GJC2 G>A	1	228346058	228346058	G	A	GJC2	c.599G>A	NM_020435.4	NP_065168.2:p.(Gly200Glu)	NC_000001.10:g.228346058G>A	(Likely) benign	1 lab	ea93b01a62
2:189859445 COL3A1 T>C	2	189859445	189859445	T	C	COL3A1	c.1348-5T>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189859445T>C	(Likely) benign	1 lab	ea96a97ac6
8:145742488 RECQL4 G>A	8	145742488	145742488	G	A	RECQL4	c.300C>T	NM_004260.3	NP_004251.3:p.(Gly100=)	NC_000008.10:g.145742488G>A	(Likely) benign	1 lab	ea97baf2f6
5:156533777 HAVCR2 A>G	5	156533777	156533777	A	G	HAVCR2	c.255T>C	NM_032782.5	NP_116171.3:p.(Asn85=)	NC_000005.9:g.156533777A>G	(Likely) benign	1 lab	ea9ee571d2
22:17590180 IL17RA G>A	22	17590180	17590180	G	A	IL17RA	c.2071G>A	NM_014339.6	NP_055154.3:p.(Ala691Thr)	NC_000022.10:g.17590180G>A	(Likely) benign	1 lab	eaa175a8ee
17:39914711 JUP G>C	17	39914711	39914711	G	C	JUP	c.1713C>G	NM_021991.2	NP_068831.1:p.(Ala571=)	NC_000017.10:g.39914711G>C	(Likely) benign	1 lab	eaa74a014d
6:31929382 SKIC2 G>A	6	31929382	31929382	G	A	SKIC2	c.848G>A	NM_006929.5	NP_008860.4:p.(Trp283Ter)	NC_000006.11:g.31929382G>A	(Likely) pathogenic	1 lab	eae0ca639f
14:58896138 KIAA0586 T>C	14	58896138	58896138	T	C	KIAA0586	c.293T>C	NM_001244189.2	NP_001231118.1:p.(Met98Thr)	NC_000014.8:g.58896138T>C	(Likely) benign	1 lab	eab3fa3c33
15:73616531 HCN4 A>G	15	73616531	73616531	A	G	HCN4	c.2042T>C	NM_005477.3	NP_005468.1:p.(Leu681Pro)	NC_000015.9:g.73616531A>G	VUS	1 lab	eab7610142
5:52344487 ITGA2 A>G	5	52344487	52344487	A	G	ITGA2	c.517A>G	NM_002203.4	NP_002194.2:p.(Ile173Val)	NC_000005.9:g.52344487A>G	(Likely) benign	1 lab	eac4b2a142
16:1270871 CACNA1H C>T	16	1270871	1270871	C	T	CACNA1H	c.6939C>T	NM_021098.3	NP_066921.2:p.(Pro2313=)	NC_000016.9:g.1270871C>T	(Likely) benign	1 lab	eaca76d427
11:117267893 CEP164 G>A	11	117267893	117267893	G	A	CEP164	c.3365G>A	NM_014956.5	NP_055771.4:p.(Arg1122His)	NC_000011.9:g.117267893G>A	(Likely) benign	1 lab	eacc7ded82
17:78176025 CARD14 G>A	17	78176025	78176025	G	A	CARD14	c.2025G>A	NM_024110.4	NP_077015.2:p.(Ser675=)	NC_000017.10:g.78176025G>A	(Likely) benign	1 lab	eace8707c3
7:156801700 MNX1 G>T	7	156801700	156801700	G	T	MNX1	c.47C>A	NM_001165255.1	NP_001158727.1:p.(Ala16Asp)	NC_000007.13:g.156801700G>T	(Likely) benign	1 lab	ead42fc5c2
10:90774008 FAS C>G	10	90774008	90774008	C	G	FAS	c.809C>G	NM_000043.4	NP_000034.1:p.(Thr270Arg)	NC_000010.10:g.90774008C>G	VUS	1 lab	ead46dceba
9:135173632 SETX G>A	9	135173632	135173632	G	A	SETX	c.5616C>T	NM_015046.5	NP_055861.3:p.(Asn1872=)	NC_000009.11:g.135173632G>A	(Likely) benign	1 lab	eadd362212
21:34805197 IFNGR2 C>CT	21	34805197	34805210	C	CT	IFNGR2	c.879+32dup	NM_005534.3	NP_005525.2:p.?	NC_000021.8:g.34805210dup	(Likely) benign	1 lab	eae174d2e9
1:5924483 NPHP4 T>C	1	5924483	5924483	T	C	NPHP4	c.3911A>G	NM_015102.5	NP_055917.1:p.(His1304Arg)	NC_000001.10:g.5924483T>C	(Likely) benign	1 lab	eaed60490c
10:17089609 CUBN A>G	10	17089609	17089609	A	G	CUBN	c.3140-7T>C	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17089609A>G	(Likely) benign	1 lab	eaef2fcf4d
11:46880732 LRP4 A>G	11	46880732	46880732	A	G	LRP4	c.5520T>C	NM_002334.3	NP_002325.2:p.(His1840=)	NC_000011.9:g.46880732A>G	(Likely) benign	1 lab	eaf2e7fa01
8:12947773 DLC1 C>T	8	12947773	12947773	C	T	DLC1	c.4062G>A	NM_182643.3	NP_872584.2:p.(Leu1354=)	NC_000008.10:g.12947773C>T	(Likely) benign	1 lab	eaf46450ba
6:13316856 TBC1D7 G>A	6	13316856	13316856	G	A	TBC1D7	c.466C>T	NM_016495.6	NP_057579.1:p.(Arg156Ter)	NC_000006.11:g.13316856G>A	(Likely) pathogenic	1 lab	eaf7ba8565
6:51890624 PKHD1 G>A	6	51890624	51890624	G	A	PKHD1	c.3984C>T	NM_138694.4	NP_619639.3:p.(Val1328=)	NC_000006.11:g.51890624G>A	(Likely) benign	1 lab	eafac4eb93
5:55237501 IL6ST T>C	5	55237501	55237501	T	C	IL6ST	c.2166A>G	NM_002184.4	NP_002175.2:p.(Glu722=)	NC_000005.9:g.55237501T>C	(Likely) benign	1 lab	eafafeb403
16:50745360 NOD2 T>C	16	50745360	50745360	T	C	NOD2	c.1538T>C	NM_022162.1	NP_071445.1:p.(Met513Thr)	NC_000016.9:g.50745360T>C	(Likely) pathogenic	1 lab	eafb833c9a
16:10031817 GRIN2A G>A	16	10031817	10031817	G	A	GRIN2A	c.1006C>T	NM_001134407.3	NP_001127879.1:p.(Pro336Ser)	NC_000016.9:g.10031817G>A	(Likely) benign	1 lab	eafcd233bf
9:130588010 ENG G>T	9	130588010	130588010	G	T	ENG	c.653C>A	NM_000118.3	NP_000109.1:p.(Ala218Glu)	NC_000009.11:g.130588010G>T	VUS	1 lab	eafe331ca2
9:131348264 SPTAN1 G>A	9	131348264	131348264	G	A	SPTAN1	c.2778+20G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131348264G>A	(Likely) benign	1 lab	eaff78e62f
9:14770521 FREM1 G>A	9	14770521	14770521	G	A	FREM1	c.5059+82C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14770521G>A	(Likely) benign	1 lab	f429fd00a5
21:47544454 COL6A2 C>T	21	47544454	47544454	C	T	COL6A2	c.1672-111C>T	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47544454C>T	(Likely) benign	1 lab	eaffabf919
1:158592716 SPTA1 T>G	1	158592716	158592716	T	G	SPTA1	c.6120+57A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158592716T>G	(Likely) benign	1 lab	eb05ed31e6
6:56481158 DST A>C	6	56481158	56481158	A	C	DST	c.7107T>G	NM_001723.6	NP_001714.1:p.(Leu2369=)	NC_000006.11:g.56481158A>C	(Likely) benign	1 lab	eb0b3cf139
17:42457677 ITGA2B G>T	17	42457677	42457677	G	T	ITGA2B	c.1545-8C>A	NM_000419.3	NP_000410.2:p.?	NC_000017.10:g.42457677G>T	(Likely) benign	1 lab	eb0f86c23b
4:39506997 UGDH G>GA	4	39506997	39507007	G	GA	UGDH	c.1038-8dup	NM_003359.4	NP_003350.1:p.?	NC_000004.11:g.39507007dup	(Likely) benign	1 lab	eb13677b52
6:133777750 EYA4 ACTGGAGATGGAGCG>A	6	133777750	133777766	ACTGGAGATGGAGCG	A	EYA4	c.337_350del	NM_004100.5	NP_004091.3:p.(Gly113Ter)	NC_000006.11:g.133777753_133777766del	(Likely) pathogenic	1 lab	eb146ba35a
4:170359272 NEK1 G>C	4	170359272	170359272	G	C	NEK1	c.2642C>G	NM_012224.4	NP_036356.1:p.(Ser881Cys)	NC_000004.11:g.170359272G>C	VUS	1 lab	dc06a04f40
X:1413250 CSF2RA G>T	X	1413250	1413250	G	T	CSF2RA	c.676G>T	NM_006140.5	NP_006131.2:p.(Val226Leu)	NC_000023.10:g.1413250G>T	(Likely) benign	1 lab	eb22f95f7a
20:61987916 CHRNA4 C>T	20	61987916	61987916	C	T	CHRNA4	c.229-149G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61987916C>T	(Likely) benign	1 lab	eb2414e5a0
13:52509735 ATP7B A>C	13	52509735	52509735	A	C	ATP7B	c.4118T>G	NM_000053.4	NP_000044.2:p.(Leu1373Arg)	NC_000013.10:g.52509735A>C	(Likely) pathogenic	1 lab	eb269b4ec5
14:24620073 RNF31 C>T	14	24620073	24620073	C	T	RNF31	c.1464C>T	NM_017999.5	NP_060469.4:p.(Gly488=)	NC_000014.8:g.24620073C>T	(Likely) benign	1 lab	eb27617793
12:52314580 ACVRL1 G>A	12	52314580	52314580	G	A	ACVRL1	c.1415G>A	NM_000020.2	NP_000011.2:p.(Trp472Ter)	NC_000012.11:g.52314580G>A	(Likely) pathogenic	1 lab	eb2a87bd0b
1:43913380 SZT2 GA>G	1	43913380	43913381	GA	G	SZT2	c.9440+12del	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43913381del	(Likely) benign	1 lab	eb2b0e286d
4:88986952 PKD2 CA>C	4	88986952	88986955	CA	C	PKD2	c.2282del	NM_000297.4	NP_000288.1:p.(Lys761SerfsTer10)	NC_000004.11:g.88986955del	(Likely) pathogenic	1 lab	eb2b8d44b3
20:33068855 ITCH A>G	20	33068855	33068855	A	G	ITCH				NC_000020.10:g.33068855A>G	(Likely) benign	1 lab	eb2ff88377
16:10032082 GRIN2A G>A	16	10032082	10032082	G	A	GRIN2A	c.741C>T	NM_000833.5	NP_000824.1:p.(Gly247=)	NC_000016.9:g.10032082G>A	(Likely) benign	1 lab	eb308fe3f6
6:7583315 DSP TA>T	6	7583315	7583318	TA	T	DSP	c.5823del	NM_004415.4	NP_004406.2:p.(Lys1941AsnfsTer31)	NC_000006.11:g.7583318del	(Likely) pathogenic	1 lab	dc08c6b2c4
X:99920210 SRPX2 G>A	X	99920210	99920210	G	A	SRPX2	c.533-30G>A	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99920210G>A	(Likely) benign	1 lab	eb36d44259
5:89909972 ADGRV1 GA>G	5	89909972	89909989	GA	G	ADGRV1	c.23-663del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89909989del	(Likely) benign	1 lab	eb42501998
16:31202396 FUS CAG>C	16	31202396	31202400	CAG	C	FUS	c.1509_1510del	NM_004960.4	NP_004951.1:p.(Gly504TrpfsTer12)	NC_000016.9:g.31202399_31202400del	(Likely) pathogenic	1 lab	dc09159f70
16:2158772 PKD1 G>A	16	2158772	2158772	G	A	PKD1	c.6396C>T	NM_001009944.2	NP_001009944.2:p.(Phe2132=)	NC_000016.9:g.2158772G>A	(Likely) benign	1 lab	eb4808863e
18:43496563 EPG5 G>A	18	43496563	43496563	G	A	EPG5	c.3240-16C>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43496563G>A	(Likely) benign	1 lab	eb4c0bb2cc
4:15483202 CC2D2A C>T	4	15483202	15483202	C	T	CC2D2A	c.*366C>T	NM_020785.2	NP_065836.2:p.?	NC_000004.11:g.15483202C>T	(Likely) benign	1 lab	eb4fdb5d56
19:7707426 STXBP2 C>T	19	7707426	7707426	C	T	STXBP2	c.902+4C>T	NM_006949.2	NP_008880.2:p.?	NC_000019.9:g.7707426C>T	VUS	1 lab	eb5048543f
16:1261063 CACNA1H C>T	16	1261063	1261063	C	T	CACNA1H	c.4223+92C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1261063C>T	(Likely) benign	1 lab	eb5214c565
19:54309049 NLRP12 G>A	19	54309049	54309049	G	A	NLRP12	c.2247-345C>T	NM_001277126.2	NP_001264055.1:p.?	NC_000019.9:g.54309049G>A	(Likely) benign	1 lab	eb55dcb06b
19:54313927 NLRP12 C>T	19	54313927	54313927	C	T	NLRP12	c.986G>A	NM_144687.4	NP_653288.1:p.(Arg329Gln)	NC_000019.9:g.54313927C>T	(Likely) benign	1 lab	eb5ac74c7b
12:2788908 CACNA1C C>A	12	2788908	2788908	C	A	CACNA1C	c.5390C>A	NM_001167623.2	NP_001161095.1:p.(Pro1797His)	NC_000012.11:g.2788908C>A	VUS	1 lab	eb5c72e5bb
4:86938296 MAPK10 T>TTG	4	86938296	86938313	T	TTG	MAPK10	c.*214_*215dup	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.86938312_86938313dup	(Likely) benign	1 lab	eb5ce08a5a
1:235952038 LYST C>T	1	235952038	235952038	C	T	LYST	c.4651G>A	NM_000081.3	NP_000072.2:p.(Val1551Met)	NC_000001.10:g.235952038C>T	(Likely) benign	1 lab	eb5dc5be72
16:3299751 MEFV G>A	16	3299751	3299751	G	A	MEFV	c.940C>T	NM_000243.2	NP_000234.1:p.(Arg314Cys)	NC_000016.9:g.3299751G>A	VUS	1 lab	ec69bb6883
16:81944106 PLCG2 T>C	16	81944106	81944106	T	C	PLCG2	c.1734-19T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81944106T>C	(Likely) benign	1 lab	eb5f6930ef
5:36629565 SLC1A3 A>T	5	36629565	36629565	A	T	SLC1A3	c.195A>T	NM_004172.5	NP_004163.3:p.(Gly65=)	NC_000005.9:g.36629565A>T	(Likely) benign	1 lab	eb61ae8aaf
5:140958088 DIAPH1 C>A	5	140958088	140958088	C	A	DIAPH1	c.1038G>T	NM_005219.5	NP_005210.3:p.(Val346=)	NC_000005.9:g.140958088C>A	(Likely) benign	1 lab	eb63d017d6
5:79030258 CMYA5 G>A	5	79030258	79030258	G	A	CMYA5	c.5670G>A	NM_153610.5	NP_705838.3:p.(Lys1890=)	NC_000005.9:g.79030258G>A	(Likely) benign	1 lab	eb66b11468
8:143957681 CYP11B1 T>C	8	143957681	143957681	T	C	CYP11B1	c.930A>G	NM_000497.3	NP_000488.3:p.(Glu310=)	NC_000008.10:g.143957681T>C	(Likely) benign	1 lab	eb6a00bf13
2:175547483 WIPF1 G>A	2	175547483	175547483	G	A	WIPF1	c.-39+19C>T	NM_001077269.1	NP_001070737.1:p.?	NC_000002.11:g.175547483G>A	(Likely) benign	1 lab	eb6b4957b6
9:137698067 COL5A1 C>T	9	137698067	137698067	C	T	COL5A1	c.3291C>T	NM_000093.4	NP_000084.3:p.(Ala1097=)	NC_000009.11:g.137698067C>T	(Likely) benign	1 lab	eb6da27d8e
X:153218281 HCFC1 C>T	X	153218281	153218281	C	T	HCFC1	c.4626G>A	NM_005334.3	NP_005325.2:p.(Glu1542=)	NC_000023.10:g.153218281C>T	(Likely) benign	1 lab	eb6eb8b543
14:65235709 SPTB G>A	14	65235709	65235709	G	A	SPTB	c.6022+43C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65235709G>A	(Likely) benign	1 lab	eb7261cdca
10:95537042 LGI1 A>G	10	95537042	95537042	A	G	LGI1	c.288-94A>G	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95537042A>G	(Likely) benign	1 lab	eb793e411a
2:47388863 CALM2 T>C	2	47388863	47388863	T	C	CALM2	c.420A>G	NM_001743.6	NP_001734.1:p.(Glu140=)	NC_000002.11:g.47388863T>C	VUS	1 lab	eb7c8d5f51
12:103260446 PAH G>C	12	103260446	103260446	G	C	PAH	c.442-5C>G	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103260446G>C	(Likely) pathogenic	1 lab	eb803017e5
1:45974883 MMACHC CTTGA>C	1	45974883	45974889	CTTGA	C	MMACHC	c.848_*2del	NM_015506.3	NP_056321.2:p.(Ter283PheextTer6)	NC_000001.10:g.45974886_45974889del	VUS	1 lab	dc0ac79d06
X:15343345 PIGA C>T	X	15343345	15343345	C	T	PIGA	c.849-71G>A	NM_002641.3	NP_002632.1:p.?	NC_000023.10:g.15343345C>T	(Likely) benign	1 lab	eb8a48396b
1:228444563 OBSCN G>A	1	228444563	228444563	G	A	OBSCN	c.4797G>A	NM_001271223.2	NP_001258152.2:p.(Ala1599=)	NC_000001.10:g.228444563G>A	(Likely) benign	1 lab	eb8b18dbba
1:235971748 LYST T>A	1	235971748	235971748	T	A	LYST	c.2363+7A>T	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235971748T>A	(Likely) benign	1 lab	eb8e005c3e
19:33878945 PEPD T>C	19	33878945	33878945	T	C	PEPD	c.1195A>G	NM_000285.4	NP_000276.2:p.(Thr399Ala)	NC_000019.9:g.33878945T>C	(Likely) benign	1 lab	eb8e1904e3
21:33057999 SCAF4 C>T	21	33057999	33057999	C	T	SCAF4	c.2091G>A	NM_020706.2	NP_065757.1:p.(Pro697=)	NC_000021.8:g.33057999C>T	(Likely) benign	1 lab	eb8e47000f
14:31598447 HECTD1 C>A	14	31598447	31598447	C	A	HECTD1	c.4130G>T	NM_015382.4	NP_056197.3:p.(Gly1377Val)	NC_000014.8:g.31598447C>A	VUS	1 lab	dc0fc9b50f
12:32949233 PKP2 C>T	12	32949233	32949233	C	T	PKP2	c.2300-1G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949233C>T	(Likely) pathogenic	1 lab	eb8fa4d920
2:71795086 DYSF G>A	2	71795086	71795086	G	A	DYSF	c.2568G>A	NM_001130981.2	NP_001124453.1:p.(Pro856=)	NC_000002.11:g.71795086G>A	(Likely) benign	1 lab	eb96a482e8
12:56474181 ERBB3 A>G	12	56474181	56474181	A	G	ERBB3	c.82+15A>G	NM_001982.3	NP_001973.2:p.?	NC_000012.11:g.56474181A>G	(Likely) benign	1 lab	eb9f17c3da
11:124761432 ROBO4 C>T	11	124761432	124761432	C	T	ROBO4	c.1711G>A	NM_019055.6	NP_061928.4:p.(Gly571Ser)	NC_000011.9:g.124761432C>T	VUS	1 lab	eba236a0d6
8:17942134 ASAH1 A>G	8	17942134	17942134	A	G	ASAH1	c.126+51T>C	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17942134A>G	(Likely) benign	1 lab	eba5e42d81
1:154570393 ADAR G>A	1	154570393	154570393	G	A	ADAR	c.1845C>T	NM_001111.5	NP_001102.3:p.(Pro615=)	NC_000001.10:g.154570393G>A	(Likely) benign	1 lab	eba61b919e
2:167134758 SCN9A A>G	2	167134758	167134758	A	G	SCN9A	c.2376T>C	NM_002977.3	NP_002968.1:p.(Tyr792=)	NC_000002.11:g.167134758A>G	(Likely) benign	1 lab	ebab2f213c
8:100523503 VPS13B GA>G	8	100523503	100523506	GA	G	VPS13B	c.4399del	NM_152564.5	NP_689777.3:p.(Ile1467PhefsTer43)	NC_000008.10:g.100523506del	(Likely) pathogenic	1 lab	ebaca4899c
17:4906156 KIF1C C>G	17	4906156	4906156	C	G	KIF1C	c.720+19C>G	NM_006612.6	NP_006603.2:p.?	NC_000017.10:g.4906156C>G	(Likely) benign	1 lab	ebaf9251d6
12:12022589 ETV6 C>G	12	12022589	12022589	C	G	ETV6	c.695C>G	NM_001987.4	NP_001978.1:p.(Ser232Cys)	NC_000012.11:g.12022589C>G	(Likely) benign	1 lab	ebb025fc0b
1:150053397 VPS45 CT>C	1	150053397	150053406	CT	C	VPS45	c.688-18del	NM_007259.5	NP_009190.2:p.?	NC_000001.10:g.150053406del	(Likely) benign	1 lab	ebb0b8ae01
9:14746416 FREM1 G>A	9	14746416	14746416	G	A	FREM1	c.6189C>T	NM_144966.5	NP_659403.4:p.(Tyr2063=)	NC_000009.11:g.14746416G>A	(Likely) benign	1 lab	ebf0325042
1:201334417 TNNT2 T>G	1	201334417	201334417	T	G	TNNT2	c.283A>C	NM_001276347.2	NP_001263276.1:p.(Met95Leu)	NC_000001.10:g.201334417T>G	VUS	1 lab	ebb396ab42
9:139265590 CARD9 G>A	9	139265590	139265590	G	A	CARD9	c.330C>T	NM_052813.4	NP_434700.2:p.(Ser110=)	NC_000009.11:g.139265590G>A	(Likely) benign	1 lab	ebb8d8f705
19:3645963 PIP5K1C G>A	19	3645963	3645963	G	A	PIP5K1C	c.1345+9C>T	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3645963G>A	(Likely) benign	1 lab	ebc12c2364
2:179407549 TTN A>G	2	179407549	179407549	A	G	TTN	c.70212T>C	NM_133432.3	NP_597676.3:p.(Gly23404=)	NC_000002.11:g.179407549A>G	(Likely) benign	1 lab	ebc12e6dd3
12:6442571 TNFRSF1A T>C	12	6442571	6442571	T	C	TNFRSF1A	c.434A>G	NM_001065.3	NP_001056.1:p.(Asn145Ser)	NC_000012.11:g.6442571T>C	(Likely) benign	1 lab	ebc1b7a6c8
22:32234797 DEPDC5 G>A	22	32234797	32234797	G	A	DEPDC5	c.2481G>A	NM_001242896.3	NP_001229825.1:p.(Pro827=)	NC_000022.10:g.32234797G>A	(Likely) benign	1 lab	ebc5989c1c
15:35084293 ACTC1 A>G	15	35084293	35084293	A	G	ACTC1	c.806T>C	NM_005159.4	NP_005150.1:p.(Ile269Thr)	NC_000015.9:g.35084293A>G	(Likely) pathogenic	1 lab	ebc9b9cee7
1:223285833 TLR5 G>T	1	223285833	223285833	G	T	TLR5	c.541C>A	NM_003268.6	NP_003259.2:p.(Gln181Lys)	NC_000001.10:g.223285833G>T	(Likely) benign	1 lab	ebcf865830
6:132203490 ENPP1 T>C	6	132203490	132203490	T	C	ENPP1	c.2106T>C	NM_006208.3	NP_006199.2:p.(Ser702=)	NC_000006.11:g.132203490T>C	(Likely) benign	1 lab	ebd09e6780
2:220354435 SPEG C>T	2	220354435	220354435	C	T	SPEG	c.8695C>T	NM_005876.5	NP_005867.3:p.(Pro2899Ser)	NC_000002.11:g.220354435C>T	(Likely) benign	1 lab	ebd2192082
1:120539652 NOTCH2 C>A	1	120539652	120539652	C	A	NOTCH2	c.719G>T	NM_024408.4	NP_077719.2:p.(Gly240Val)	NC_000001.10:g.120539652C>A	VUS	1 lab	ebd3937a57
10:73115941 SLC29A3 T>C	10	73115941	73115941	T	C	SLC29A3	c.714T>C	NM_001174098.2	NP_001167569.1:p.(Thr238=)	NC_000010.10:g.73115941T>C	(Likely) benign	1 lab	dc143e6a41
13:39266330 FREM2 T>C	13	39266330	39266330	T	C	FREM2	c.4849T>C	NM_207361.6	NP_997244.4:p.(Ser1617Pro)	NC_000013.10:g.39266330T>C	(Likely) pathogenic	1 lab	ebdc63a202
9:130582213 ENG C>A	9	130582213	130582213	C	A	ENG	c.1238G>T	NM_000118.3	NP_000109.1:p.(Gly413Val)	NC_000009.11:g.130582213C>A	(Likely) pathogenic	1 lab	ebe3651fea
9:137690269 COL5A1 G>T	9	137690269	137690269	G	T	COL5A1	c.2914G>T	NM_000093.4	NP_000084.3:p.(Asp972Tyr)	NC_000009.11:g.137690269G>T	VUS	1 lab	ebe5fccb77
6:135611661 AHI1 G>A	6	135611661	135611661	G	A	AHI1	c.3488C>T	NM_001134831.2	NP_001128303.1:p.(Ser1163Phe)	NC_000006.11:g.135611661G>A	VUS	1 lab	ebe83a91c8
1:8420969 RERE T>A	1	8420969	8420969	T	A	RERE	c.2598A>T	NM_012102.4	NP_036234.3:p.(Pro866=)	NC_000001.10:g.8420969T>A	(Likely) benign	1 lab	ebebcc25be
9:137688696 COL5A1 A>T	9	137688696	137688696	A	T	COL5A1	c.2847A>T	NM_000093.4	NP_000084.3:p.(Gly949=)	NC_000009.11:g.137688696A>T	(Likely) benign	1 lab	ebf2903a42
2:179398591 TTN TTG>T	2	179398591	179398596	TTG	T	TTN	c.102749_102750del	NM_001267550.2	NP_001254479.2:p.(Thr34250AsnfsTer16)	NC_000002.11:g.179398595_179398596del	(Likely) pathogenic	1 lab	ebf875b9b9
9:127262718 NR5A1 G>A	9	127262718	127262718	G	A	NR5A1	c.521C>T	NM_004959.5	NP_004950.2:p.(Pro174Leu)	NC_000009.11:g.127262718G>A	VUS	1 lab	dc147e4a44
6:18122402 NHLRC1 C>T	6	18122402	18122402	C	T	NHLRC1	c.436G>A	NM_198586.3	NP_940988.2:p.(Asp146Asn)	NC_000006.11:g.18122402C>T	(Likely) pathogenic	1 lab	ec078a4da2
9:101536213 ANKS6 C>T	9	101536213	101536213	C	T	ANKS6	c.1767G>A	NM_173551.5	NP_775822.3:p.(Ala589=)	NC_000009.11:g.101536213C>T	(Likely) benign	1 lab	ec099a752b
1:158655080 SPTA1 G>T	1	158655080	158655080	G	T	SPTA1	c.82C>A	NM_003126.3	NP_003117.2:p.(Arg28Ser)	NC_000001.10:g.158655080G>T	(Likely) pathogenic	1 lab	ec0daa7625
11:6661835 DCHS1 C>T	11	6661835	6661835	C	T	DCHS1	c.1010G>A	NM_003737.4	NP_003728.1:p.(Gly337Asp)	NC_000011.9:g.6661835C>T	VUS	1 lab	ec100c43f6
21:35169692 ITSN1 G>A	21	35169692	35169692	G	A	ITSN1	c.1962G>A	NM_003024.3	NP_003015.2:p.(Gln654=)	NC_000021.8:g.35169692G>A	(Likely) benign	1 lab	ec175f4902
1:160318808 NCSTN A>G	1	160318808	160318808	A	G	NCSTN	c.150A>G	NM_001290184.2	NP_001277113.1:p.(Thr50=)	NC_000001.10:g.160318808A>G	(Likely) benign	1 lab	ec1aa20180
19:19312510 RFXANK G>A	19	19312510	19312510	G	A	RFXANK	c.765G>A	NM_003721.2	NP_003712.1:p.(Val255=)	NC_000019.9:g.19312510G>A	(Likely) benign	1 lab	ec2145aa61
4:151242409 LRBA T>G	4	151242409	151242409	T	G	LRBA	c.7564A>C	NM_001199282.2	NP_001186211.2:p.(Thr2522Pro)	NC_000004.11:g.151242409T>G	(Likely) benign	1 lab	ec22b20eae
1:29342226 EPB41 T>G	1	29342226	29342226	T	G	EPB41	c.225T>G	NM_004437.4	NP_004428.1:p.(Phe75Leu)	NC_000001.10:g.29342226T>G	VUS	1 lab	ec23fd32b1
10:102509560 PAX2 C>G	10	102509560	102509560	C	G	PAX2	c.101C>G	NM_003988.5	NP_003979.2:p.(Pro34Arg)	NC_000010.10:g.102509560C>G	VUS	1 lab	ec24512ae4
1:228559430 OBSCN G>A	1	228559430	228559430	G	A	OBSCN	c.23822G>A	NM_001271223.2	NP_001258152.2:p.(Arg7941Gln)	NC_000001.10:g.228559430G>A	(Likely) benign	1 lab	ec2556a539
15:85191826 WDR73 G>A	15	85191826	85191826	G	A	WDR73				NC_000015.9:g.85191826G>A	(Likely) benign	1 lab	ec25715ac1
7:82072815 CACNA2D1 G>C	7	82072815	82072815	G	C	CACNA2D1	c.-40C>G	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.82072815G>C	(Likely) benign	1 lab	ec2655cbe5
1:237954742 RYR2 G>A	1	237954742	237954742	G	A	RYR2	c.13490G>A	NM_001035.3	NP_001026.2:p.(Arg4497His)	NC_000001.10:g.237954742G>A	VUS	1 lab	ec275a3f26
2:145188050 ZEB2 GAC>G	2	145188050	145188064	GAC	G	ZEB2	c.74-459_74-458del	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145188063_145188064del	(Likely) benign	1 lab	ec2b02ca13
5:156074514 SGCD T>G	5	156074514	156074514	T	G	SGCD	c.543T>G	NM_000337.5	NP_000328.2:p.(Pro181=)	NC_000005.9:g.156074514T>G	(Likely) benign	1 lab	ec2b14c700
5:127419931 SLC12A2 TGCGGCGGCGGCG>T	5	127419931	127419954	TGCGGCGGCGGCG	T	SLC12A2	c.297_308del	NM_001046.3	NP_001037.1:p.(Ala104_Ala107del)	NC_000005.9:g.127419943_127419954del	VUS	1 lab	dc1d9e7e6a
2:109380248 RANBP2 A>C	2	109380248	109380248	A	C	RANBP2	c.3253A>C	NM_006267.4	NP_006258.3:p.(Lys1085Gln)	NC_000002.11:g.109380248A>C	(Likely) benign	1 lab	ec351c37c8
2:189974982 COL5A2 T>C	2	189974982	189974982	T	C	COL5A2	c.291A>G	NM_000393.5	NP_000384.2:p.(Ser97=)	NC_000002.11:g.189974982T>C	(Likely) benign	1 lab	ec376e7b21
22:26164192 MYO18B C>G	22	26164192	26164192	C	G	MYO18B	c.309C>G	NM_001318245.2	NP_001305174.1:p.(Asp103Glu)	NC_000022.10:g.26164192C>G	(Likely) benign	1 lab	ec3e276151
19:39993591 DLL3 C>G	19	39993591	39993591	C	G	DLL3	c.546C>G	NM_016941.4	NP_058637.1:p.(Ala182=)	NC_000019.9:g.39993591C>G	(Likely) benign	1 lab	dc24246315
X:154227876 F8 C>A	X	154227876	154227876	C	A	F8	c.144-1G>T	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154227876C>A	(Likely) pathogenic	1 lab	ec40eb60bb
13:39430443 FREM2 G>A	13	39430443	39430443	G	A	FREM2	c.7056+50G>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39430443G>A	(Likely) benign	1 lab	ec41ba1ec8
20:47863840 ZNFX1 G>A	20	47863840	47863840	G	A	ZNFX1	c.5721C>T	NM_021035.3	NP_066363.1:p.(Asn1907=)	NC_000020.10:g.47863840G>A	(Likely) benign	1 lab	ec4bcc80ab
19:13563538 CACNA1A G>T	19	13563538	13563538	G	T	CACNA1A	c.539+152C>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13563538G>T	(Likely) benign	1 lab	ec4edec96b
9:139404399 NOTCH1 C>T	9	139404399	139404399	C	T	NOTCH1	c.2755G>A	NM_017617.5	NP_060087.3:p.(Gly919Arg)	NC_000009.11:g.139404399C>T	VUS	1 lab	ec588b1bef
7:131241089 PODXL C>T	7	131241089	131241089	C	T	PODXL	c.30G>A	NM_005397.4	NP_005388.2:p.(Leu10=)	NC_000007.13:g.131241089C>T	(Likely) benign	1 lab	ec606360ea
11:13514417 PTH C>T	11	13514417	13514417	C	T	PTH	c.-5-10G>A	NM_000315.4	NP_000306.1:p.?	NC_000011.9:g.13514417C>T	(Likely) benign	1 lab	dc24ca8529
2:179423219 TTN C>A	2	179423219	179423219	C	A	TTN	c.86967G>T	NM_001267550.2	NP_001254479.2:p.(Trp28989Cys)	NC_000002.11:g.179423219C>A	VUS	1 lab	dc27ad2e6c
9:6587054 GLDC A>T	9	6587054	6587054	A	T	GLDC	c.1850+87T>A	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6587054A>T	(Likely) benign	1 lab	ec6954b390
9:131389060 SPTAN1 C>CAA	9	131389060	131389061	C	CAA	SPTAN1	c.6576+94_6576+95insAA	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131389060_131389061insAA	(Likely) benign	1 lab	ec6b7c44e1
11:615196 IRF7 C>T	11	615196	615196	C	T	IRF7	c.123G>A	NM_004031.4	NP_004022.2:p.(Glu41=)	NC_000011.9:g.615196C>T	(Likely) benign	1 lab	ec6cc62836
16:89598407 SPG7 G>A	16	89598407	89598407	G	A	SPG7	c.1083G>A	NM_003119.4	NP_003110.1:p.(Ala361=)	NC_000016.9:g.89598407G>A	(Likely) benign	1 lab	ec6e19b256
14:59014483 KIAA0586 C>T	14	59014483	59014483	C	T	KIAA0586	c.4740-16C>T	NM_001244189.2	NP_001231118.1:p.?	NC_000014.8:g.59014483C>T	(Likely) benign	1 lab	ec7028627d
X:154124378 F8 G>A	X	154124378	154124378	G	A	F8	c.6403C>T	NM_000132.3	NP_000123.1:p.(Arg2135Ter)	NC_000023.10:g.154124378G>A	VUS	1 lab	ec705a4ee4
20:402854 RBCK1 G>A	20	402854	402854	G	A	RBCK1	c.1001G>A	NM_031229.4	NP_112506.2:p.(Gly334Asp)	NC_000020.10:g.402854G>A	(Likely) benign	1 lab	ec709ee16e
8:27327599 CHRNA2 A>G	8	27327599	27327599	A	G	CHRNA2	c.74-101T>C	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27327599A>G	(Likely) benign	1 lab	ec751965e1
1:11103091 MASP2 G>A	1	11103091	11103091	G	A	MASP2	c.742-12C>T	NM_006610.4	NP_006601.2:p.?	NC_000001.10:g.11103091G>A	(Likely) benign	1 lab	ec790543d7
1:150064404 VPS45 T>C	1	150064404	150064404	T	C	VPS45	c.1272T>C	NM_007259.4	NP_009190.2:p.(Ser424=)	NC_000001.10:g.150064404T>C	(Likely) benign	1 lab	ec80f41ffc
20:8746025 PLCB1 T>G	20	8746025	8746025	T	G	PLCB1	c.2930+20T>G	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8746025T>G	(Likely) benign	1 lab	f4e08ab54d
11:73744969 C2CD3 G>A	11	73744969	73744969	G	A	C2CD3	c.6236C>T	NM_001286577.1	NP_001273506.1:p.(Thr2079Met)	NC_000011.9:g.73744969G>A	(Likely) benign	1 lab	ec820fc1b1
14:23852543 MYH6 G>T	14	23852543	23852543	G	T	MYH6	c.5566-14C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23852543G>T	(Likely) benign	1 lab	dc2823d330
X:153278651 IRAK1 G>A	X	153278651	153278651	G	A	IRAK1	c.1773C>T	NM_001569.4	NP_001560.2:p.(Ser591=)	NC_000023.10:g.153278651G>A	(Likely) benign	1 lab	ec8492e8c9
9:116151191 ALAD A>G	9	116151191	116151191	A	G	ALAD	c.931+66T>C	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116151191A>G	(Likely) benign	1 lab	ec868d92f3
5:125896821 ALDH7A1 A>T	5	125896821	125896821	A	T	ALDH7A1	c.872-5T>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125896821A>T	(Likely) benign	1 lab	ec899e2af4
X:76938647 ATRX G>A	X	76938647	76938647	G	A	ATRX	c.2101C>T	NM_000489.6	NP_000480.3:p.(Arg701Cys)	NC_000023.10:g.76938647G>A	VUS	1 lab	dc2aca312b
13:44456510 LACC1 G>A	13	44456510	44456510	G	A	LACC1	c.741+11G>A	NM_001128303.2	NP_001121775.1:p.?	NC_000013.10:g.44456510G>A	(Likely) benign	1 lab	ec91c31234
4:114223913 ANK2 G>T	4	114223913	114223913	G	T	ANK2	c.2476-10G>T	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114223913G>T	(Likely) benign	1 lab	ec922a6c05
14:51404519 PYGL G>A	14	51404519	51404519	G	A	PYGL	c.280C>T	NM_002863.5	NP_002854.3:p.(Arg94Ter)	NC_000014.8:g.51404519G>A	(Likely) pathogenic	1 lab	ec97218da6
2:191851805 STAT1 A>T	2	191851805	191851805	A	T	STAT1	c.1098-11T>A	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191851805A>T	(Likely) benign	1 lab	ec9fb01c14
16:2168783 PKD1 C>T	16	2168783	2168783	C	T	PKD1	c.423G>A	NM_001009944.2	NP_001009944.2:p.(Glu141=)	NC_000016.9:g.2168783C>T	(Likely) benign	1 lab	eca21a0c34
19:56424305 NLRP13 T>C	19	56424305	56424305	T	C	NLRP13	c.878A>G	NM_176810.2	NP_789780.2:p.(Asp293Gly)	NC_000019.9:g.56424305T>C	(Likely) benign	1 lab	eca3536c23
14:23249280 SLC7A7 G>C	14	23249280	23249280	G	C	SLC7A7	c.500-20C>G	NM_001126106.2	NP_001119578.1:p.?	NC_000014.8:g.23249280G>C	(Likely) benign	1 lab	eca4dbd094
X:31950349 DMD A>G	X	31950349	31950349	A	G	DMD	c.6246-5T>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31950349A>G	(Likely) benign	1 lab	eca59bd714
2:202070589 CASP10 G>T	2	202070589	202070589	G	T	CASP10	c.722-16G>T	NM_032977.3	NP_116759.2:p.?	NC_000002.11:g.202070589G>T	(Likely) benign	1 lab	ecaa590ce9
16:1842406 IGFALS C>T	16	1842406	1842406	C	T	IGFALS	c.127G>A	NM_001146006.2	NP_001139478.1:p.(Ala43Thr)	NC_000016.9:g.1842406C>T	VUS	1 lab	dc2be0b497
1:154245917 HAX1 T>C	1	154245917	154245917	T	C	HAX1	c.159T>C	NM_006118.4	NP_006109.2:p.(Ser53=)	NC_000001.10:g.154245917T>C	(Likely) benign	1 lab	dc2d59b0b2
1:159175832 ACKR1 G>A	1	159175832	159175832	G	A	ACKR1	c.609G>A	NM_001122951.3	NP_001116423.1:p.(Thr203=)	NC_000001.10:g.159175832G>A	(Likely) benign	1 lab	ecb6ad4811
19:4817833 TICAM1 G>A	19	4817833	4817833	G	A	TICAM1	c.557C>T	NM_182919.3	NP_891549.1:p.(Ser186Leu)	NC_000019.9:g.4817833G>A	(Likely) benign	1 lab	ecb806b13b
1:1961239 GABRD G>A	1	1961239	1961239	G	A	GABRD	c.1059+38G>A	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1961239G>A	(Likely) benign	1 lab	ecb8977e9f
X:21989956 SMS CT>C	X	21989956	21989966	CT	C	SMS	c.171-49del	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21989966del	(Likely) benign	1 lab	ecbc25529c
1:228528870 OBSCN C>T	1	228528870	228528870	C	T	OBSCN	c.20643C>T	NM_001271223.2	NP_001258152.2:p.(Leu6881=)	NC_000001.10:g.228528870C>T	(Likely) benign	1 lab	ecc1d7d275
1:100346211 AGL C>T	1	100346211	100346211	C	T	AGL	c.1759C>T	NM_000642.3	NP_000633.2:p.(His587Tyr)	NC_000001.10:g.100346211C>T	(Likely) benign	1 lab	ecc7a322d2
2:179441513 TTN T>G	2	179441513	179441513	T	G	TTN	c.42638A>C	NM_133432.3	NP_597676.3:p.(Lys14213Thr)	NC_000002.11:g.179441513T>G	VUS	1 lab	ecd0fcd307
1:223962523 CAPN2 T>C	1	223962523	223962523	T	C	CAPN2	c.2080-13T>C	NM_001748.5	NP_001739.3:p.?	NC_000001.10:g.223962523T>C	(Likely) benign	1 lab	ecd58ebd71
11:14902326 CYP2R1 T>A	11	14902326	14902326	T	A	CYP2R1	c.368-12A>T	NM_024514.4	NP_078790.2:p.?	NC_000011.9:g.14902326T>A	(Likely) benign	1 lab	ecf2f09378
13:39435553 FREM2 T>G	13	39435553	39435553	T	G	FREM2	c.7520-15T>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39435553T>G	(Likely) benign	1 lab	ecd993217d
2:58390096 FANCL G>GA	2	58390096	58390103	G	GA	FANCL	c.822-15dup	NM_018062.3	NP_060532.2:p.?	NC_000002.11:g.58390103dup	(Likely) benign	1 lab	ecd9f15f3e
10:69881480 MYPN A>T	10	69881480	69881480	A	T	MYPN	c.285A>T	NM_032578.3	NP_115967.2:p.(Gln95His)	NC_000010.10:g.69881480A>T	(Likely) benign	1 lab	ecdb26d57a
16:89345972 ANKRD11 G>A	16	89345972	89345972	G	A	ANKRD11	c.6978C>T	NM_001256182.2	NP_001243111.1:p.(Ala2326=)	NC_000016.9:g.89345972G>A	(Likely) benign	1 lab	ecdb543c22
16:89869889 FANCA T>TGA	16	89869889	89869892	T	TGA	FANCA	c.710-142_710-141dup	NM_000135.2	NP_000126.2:p.?	NC_000016.9:g.89869891_89869892dup	(Likely) benign	1 lab	ecdbbd23d8
6:109788942 ZBTB24 AAAAAAC>A	6	109788942	109788965	AAAAAAC	A	ZBTB24	c.1289-11_1289-6del	NM_014797.3	NP_055612.2:p.?	NC_000006.11:g.109788960_109788965del	(Likely) benign	1 lab	ecdff95567
5:90050642 ADGRV1 G>A	5	90050642	90050642	G	A	ADGRV1	c.11378-158G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90050642G>A	(Likely) benign	1 lab	ed20811e9d
10:95123803 MYOF G>A	10	95123803	95123803	G	A	MYOF	c.2783C>T	NM_013451.4	NP_038479.1:p.(Thr928Met)	NC_000010.10:g.95123803G>A	(Likely) benign	1 lab	ece1bcdf43
7:143018474 CLCN1 C>T	7	143018474	143018474	C	T	CLCN1	c.450C>T	NM_000083.3	NP_000074.3:p.(Tyr150=)	NC_000007.13:g.143018474C>T	(Likely) benign	1 lab	ece93ac850
9:5072645 JAK2 T>C	9	5072645	5072645	T	C	JAK2	c.1776+19T>C	NM_004972.3	NP_004963.1:p.?	NC_000009.11:g.5072645T>C	(Likely) benign	1 lab	ecedac5af1
10:67680324 CTNNA3 C>G	10	67680324	67680324	C	G	CTNNA3	c.2452G>C	NM_013266.4	NP_037398.2:p.(Val818Leu)	NC_000010.10:g.67680324C>G	VUS	1 lab	ecee88dc67
12:52056611 SCN8A C>T	12	52056611	52056611	C	T	SCN8A	c.10C>T	NM_014191.4	NP_055006.1:p.(Arg4Trp)	NC_000012.11:g.52056611C>T	VUS	1 lab	ecf3848dca
6:157528834 ARID1B C>G	6	157528834	157528834	C	G	ARID1B	c.6808C>G	NM_001371656.1	NP_001358585.1:p.(Leu2270Val)	NC_000006.11:g.157528834C>G	(Likely) benign	1 lab	ecf4d70d04
9:32480254 RIGI G>A	9	32480254	32480254	G	A	RIGI	c.1737C>T	NM_014314.4	NP_055129.2:p.(Phe579=)	NC_000009.11:g.32480254G>A	(Likely) benign	1 lab	ecf768b38a
7:135272328 NUP205 A>G	7	135272328	135272328	A	G	NUP205	c.1224A>G	NM_015135.2	NP_055950.1:p.(Lys408=)	NC_000007.13:g.135272328A>G	(Likely) benign	1 lab	ecfdc70b44
16:69687143 NFAT5 T>C	16	69687143	69687143	T	C	NFAT5	c.535T>C	NM_138714.4	NP_619728.2:p.(Leu179=)	NC_000016.9:g.69687143T>C	(Likely) benign	1 lab	ed00f9015b
18:3129368 MYOM1 T>C	18	3129368	3129368	T	C	MYOM1	c.2656A>G	NM_003803.3	NP_003794.3:p.(Ser886Gly)	NC_000018.9:g.3129368T>C	(Likely) benign	1 lab	ed02493e8a
7:84651849 SEMA3D G>T	7	84651849	84651849	G	T	SEMA3D	c.1272C>A	NM_152754.3	NP_689967.2:p.(His424Gln)	NC_000007.13:g.84651849G>T	(Likely) benign	1 lab	dc2df8b276
2:152954791 CACNB4 G>C	2	152954791	152954791	G	C	CACNB4	c.147+53C>G	NM_000726.4	NP_000717.2:p.?	NC_000002.11:g.152954791G>C	(Likely) benign	1 lab	ed0d4306a0
10:17110285 CUBN G>C	10	17110285	17110285	G	C	CUBN	c.2792-6C>G	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17110285G>C	(Likely) benign	1 lab	ed0e5ec2e1
1:196748282 CFHR3 T>A	1	196748282	196748282	T	A	CFHR3	c.59-10T>A	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196748282T>A	(Likely) benign	1 lab	ed0fa76a2b
7:98793797 KPNA7 A>G	7	98793797	98793797	A	G	KPNA7	c.202-8T>C	NM_001145715.2	NP_001139187.1:p.?	NC_000007.13:g.98793797A>G	(Likely) benign	1 lab	ed12178549
1:29379992 EPB41 G>A	1	29379992	29379992	G	A	EPB41	c.1218+168G>A	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29379992G>A	(Likely) benign	1 lab	ed13c3e10d
6:152763191 SYNE1 C>T	6	152763191	152763191	C	T	SYNE1	c.4008+19G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152763191C>T	(Likely) benign	1 lab	ed320fa788
2:48033809 MSH6 TGGAATTATAACTAACTGACCTTAAGTTTCAAAGAAACAGTAAAAGGGGAAG>T	2	48033809	48033863	TGGAATTATAACTAACTGACCTTAAGTTTCAAAGAAACAGTAAAAGGGGAAG	T	MSH6	c.4001+23_4002-55del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033813_48033863del	VUS	1 lab	ed1460b711
11:2417960 CD81 C>CG	11	2417960	2417962	C	CG	CD81	c.648+18dup	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2417962dup	(Likely) benign	1 lab	ee24e5f933
1:100662092 DBT G>A	1	100662092	100662092	G	A	DBT	c.1282-114C>T	NM_001918.3	NP_001909.3:p.?	NC_000001.10:g.100662092G>A	(Likely) benign	1 lab	ed190af217
13:32968939 BRCA2 A>T	13	32968939	32968939	A	T	BRCA2	c.9370A>T	NM_000059.3	NP_000050.2:p.(Asn3124Tyr)	NC_000013.10:g.32968939A>T	VUS	1 lab	ed1bef7558
10:97440250 TCTN3 T>C	10	97440250	97440250	T	C	TCTN3	c.1569A>G	NM_015631.6	NP_056446.4:p.(Leu523=)	NC_000010.10:g.97440250T>C	(Likely) benign	1 lab	ed200410bf
6:7584730 DSP C>A	6	7584730	7584730	C	A	DSP	c.7235C>A	NM_004415.4	NP_004406.2:p.(Thr2412Asn)	NC_000006.11:g.7584730C>A	VUS	1 lab	dc34be2bd9
6:146027084 EPM2A T>A	6	146027084	146027084	T	A	EPM2A	c.302-19652A>T	NM_001018041.2	NP_001018051.1:p.?	NC_000006.11:g.146027084T>A	(Likely) benign	1 lab	ed22402f37
1:179544876 NPHS2 C>T	1	179544876	179544876	C	T	NPHS2	c.124G>A	NM_014625.3	NP_055440.1:p.(Gly42Arg)	NC_000001.10:g.179544876C>T	(Likely) benign	1 lab	ed23ee8b29
5:156770220 CYFIP2 G>A	5	156770220	156770220	G	A	CYFIP2	c.2673+2055G>A	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156770220G>A	(Likely) benign	1 lab	dc35a9a01a
2:227976298 COL4A4 G>A	2	227976298	227976298	G	A	COL4A4	c.594+96C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227976298G>A	(Likely) benign	1 lab	ed25391f38
10:18439810 CACNB2 A>ATTTTTTTTTTTTTTTTTTTTTTTTT	10	18439810	18439811	A	ATTTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-2_37-1insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439810_18439811insTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	ed25b903b6
3:49394834 GPX1 G>A	3	49394834	49394834	G	A	GPX1	c.599C>T	NM_000581.4	NP_000572.2:p.(Pro200Leu)	NC_000003.11:g.49394834G>A	(Likely) benign	1 lab	dc35fbf83d
4:187630169 FAT1 T>C	4	187630169	187630169	T	C	FAT1	c.813A>G	NM_005245.4	NP_005236.2:p.(Pro271=)	NC_000004.11:g.187630169T>C	(Likely) benign	1 lab	ed2aa62c22
16:2152957 PKD1 C>A	16	2152957	2152957	C	A	PKD1	c.8806G>T	NM_001009944.2	NP_001009944.2:p.(Glu2936Ter)	NC_000016.9:g.2152957C>A	(Likely) pathogenic	1 lab	ed2b8c520b
17:48263189 COL1A1 C>T	17	48263189	48263189	C	T	COL1A1	c.4198G>A	NM_000088.3	NP_000079.2:p.(Ala1400Thr)	NC_000017.10:g.48263189C>T	VUS	1 lab	ed32c33aed
2:32370058 SPAST G>C	2	32370058	32370058	G	C	SPAST	c.1669G>C	NM_014946.4	NP_055761.2:p.(Ala557Pro)	NC_000002.11:g.32370058G>C	VUS	1 lab	dc38613ca7
4:88964459 PKD2 G>A	4	88964459	88964459	G	A	PKD2	c.1169G>A	NM_000297.4	NP_000288.1:p.(Gly390Asp)	NC_000004.11:g.88964459G>A	(Likely) pathogenic	1 lab	dc3a41cafe
7:91630739 AKAP9 A>G	7	91630739	91630739	A	G	AKAP9	c.1508A>G	NM_005751.4	NP_005742.4:p.(Gln503Arg)	NC_000007.13:g.91630739A>G	(Likely) benign	1 lab	ed38e5656e
19:11685942 ACP5 G>A	19	11685942	11685942	G	A	ACP5	c.861C>T	NM_001111035.3	NP_001104505.1:p.(Asp287=)	NC_000019.9:g.11685942G>A	(Likely) benign	1 lab	ed3f58e813
2:179498168 TTN G>A	2	179498168	179498168	G	A	TTN	c.42918C>T	NM_001267550.1	NP_001254479.1:p.(Asp14306=)	NC_000002.11:g.179498168G>A	(Likely) benign	1 lab	ed40f14155
7:77797173 MAGI2 T>C	7	77797173	77797173	T	C	MAGI2	c.2596+60A>G	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.77797173T>C	(Likely) benign	1 lab	ed412f0adf
13:32903523 BRCA2 A>G	13	32903523	32903523	A	G	BRCA2	c.632-57A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903523A>G	(Likely) benign	1 lab	ed467c6e93
3:4829791 ITPR1 T>C	3	4829791	4829791	T	C	ITPR1	c.6731T>C	NM_001168272.1	NP_001161744.1:p.(Phe2244Ser)	NC_000003.11:g.4829791T>C	VUS	1 lab	ed4a41e804
3:11067966 SLC6A1 C>T	3	11067966	11067966	C	T	SLC6A1	c.999C>T	NM_003042.4	NP_003033.3:p.(Phe333=)	NC_000003.11:g.11067966C>T	(Likely) benign	1 lab	ed4b3db5c8
10:27456023 MASTL C>T	10	27456023	27456023	C	T	MASTL	c.812-8C>T	NM_032844.5	NP_116233.2:p.?	NC_000010.10:g.27456023C>T	(Likely) benign	1 lab	ed4b5bb730
7:103175950 RELN T>C	7	103175950	103175950	T	C	RELN	c.7181-19A>G	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103175950T>C	(Likely) benign	1 lab	ed4c26bf22
18:60017178 TNFRSF11A C>T	18	60017178	60017178	C	T	TNFRSF11A				NC_000018.9:g.60017178C>T	(Likely) benign	1 lab	f1a5f03737
5:177576853 NHP2 A>G	5	177576853	177576853	A	G	NHP2	c.337-14T>C	NM_017838.3	NP_060308.1:p.?	NC_000005.9:g.177576853A>G	(Likely) benign	1 lab	ed5672b6ce
3:38793750 SCN10A G>A	3	38793750	38793750	G	A	SCN10A	c.1715C>T	NM_006514.3	NP_006505.3:p.(Pro572Leu)	NC_000003.11:g.38793750G>A	(Likely) benign	1 lab	ed5a2409f3
15:63351866 TPM1 G>A	15	63351866	63351866	G	A	TPM1	c.479G>A	NM_000366.6	NP_000357.3:p.(Arg160His)	NC_000015.9:g.63351866G>A	(Likely) pathogenic	1 lab	ed5c8eebe1
2:175264627 SCRN3 CTTTT>C	2	175264627	175264645	CTTTT	C	SCRN3	c.160-8_160-5del	NM_024583.5	NP_078859.2:p.?	NC_000002.11:g.175264642_175264645del	(Likely) benign	1 lab	ed6680f415
6:31084435 CDSN G>A	6	31084435	31084435	G	A	CDSN	c.957C>T	NM_001264.5	NP_001255.4:p.(Tyr319=)	NC_000006.11:g.31084435G>A	(Likely) benign	1 lab	dc3b1b00b7
2:166166056 SCN2A T>C	2	166166056	166166056	T	C	SCN2A	c.697+103T>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166166056T>C	(Likely) benign	1 lab	ed6836e25d
1:237550619 RYR2 C>T	1	237550619	237550619	C	T	RYR2	c.615C>T	NM_001035.3	NP_001026.2:p.(Ala205=)	NC_000001.10:g.237550619C>T	(Likely) benign	1 lab	ed69a5a256
9:130616634 ENG T>C	9	130616634	130616634	T	C	ENG	c.1A>G	NM_000118.3	NP_000109.1:p.(Met1?)	NC_000009.11:g.130616634T>C	(Likely) pathogenic	1 lab	ed6c361d81
14:20944539 PNP T>C	14	20944539	20944539	T	C	PNP	c.653-4T>C	NM_000270.3	NP_000261.2:p.?	NC_000014.8:g.20944539T>C	(Likely) benign	1 lab	ed7521c246
18:32457673 DTNA T>C	18	32457673	32457673	T	C	DTNA	c.1664-10T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32457673T>C	(Likely) benign	1 lab	ed76d9732a
10:112404295 RBM20 G>T	10	112404295	112404295	G	T	RBM20	c.83G>T	NM_001134363.1	NP_001127835.1:p.(Gly28Val)	NC_000010.10:g.112404295G>T	VUS	1 lab	ed77db33bc
1:17371337 SDHB T>G	1	17371337	17371337	T	G	SDHB	c.119A>C	NM_003000.2	NP_002991.2:p.(Lys40Thr)	NC_000001.10:g.17371337T>G	(Likely) pathogenic	1 lab	ed78db9aac
3:47032782 NBEAL2 C>T	3	47032782	47032782	C	T	NBEAL2	c.630C>T	NM_015175.2	NP_055990.1:p.(Leu210=)	NC_000003.11:g.47032782C>T	(Likely) benign	1 lab	ed791951d4
17:62022175 SCN4A G>A	17	62022175	62022175	G	A	SCN4A	c.3775-5C>T	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62022175G>A	(Likely) benign	1 lab	dc3d66bd3e
8:100709155 VPS13B T>C	8	100709155	100709155	T	C	VPS13B	c.6122-2598T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100709155T>C	(Likely) benign	1 lab	ed7e557e87
11:57581818 CTNND1 A>G	11	57581818	57581818	A	G	CTNND1	c.2674A>G	NM_001085458.2	NP_001078927.1:p.(Asn892Asp)	NC_000011.9:g.57581818A>G	(Likely) benign	1 lab	ed7f3c1a87
X:53246959 KDM5C C>T	X	53246959	53246959	C	T	KDM5C				NC_000023.10:g.53246959C>T	(Likely) benign	1 lab	eeaf163ae1
17:78092544 GAA C>G	17	78092544	78092544	C	G	GAA	c.2739C>G	NM_000152.3	NP_000143.2:p.(Pro913=)	NC_000017.10:g.78092544C>G	(Likely) benign	1 lab	ed822c79ed
14:102463555 DYNC1H1 G>T	14	102463555	102463555	G	T	DYNC1H1	c.3748G>T	NM_001376.5	NP_001367.2:p.(Val1250Leu)	NC_000014.8:g.102463555G>T	VUS	1 lab	dc414d1082
2:27677542 IFT172 G>A	2	27677542	27677542	G	A	IFT172	c.3372-15C>T	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27677542G>A	(Likely) benign	1 lab	ed8a9147e8
9:130588800 ENG C>G	9	130588800	130588800	C	G	ENG	c.512G>C	NM_000118.3	NP_000109.1:p.(Arg171Pro)	NC_000009.11:g.130588800C>G	(Likely) pathogenic	1 lab	ed8d9ed7e7
16:57484950 COQ9 A>G	16	57484950	57484950	A	G	COQ9	c.74-2A>G	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57484950A>G	(Likely) pathogenic	1 lab	ed90cb6646
22:32242867 DEPDC5 G>A	22	32242867	32242867	G	A	DEPDC5	c.3069G>A	NM_001242896.3	NP_001229825.1:p.(Thr1023=)	NC_000022.10:g.32242867G>A	(Likely) benign	1 lab	ed92264716
7:158448154 NCAPG2 T>C	7	158448154	158448154	T	C	NCAPG2	c.2389-7A>G	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158448154T>C	(Likely) benign	1 lab	ed930c1861
10:69881256 MYPN T>C	10	69881256	69881256	T	C	MYPN	c.61T>C	NM_032578.3	NP_115967.2:p.(Leu21=)	NC_000010.10:g.69881256T>C	(Likely) benign	1 lab	ed949860c1
11:64977890 CAPN1 G>A	11	64977890	64977890	G	A	CAPN1	c.2026G>A	NM_001198868.2	NP_001185797.1:p.(Val676Ile)	NC_000011.9:g.64977890G>A	(Likely) benign	1 lab	ed9537528f
7:77824318 MAGI2 C>T	7	77824318	77824318	C	T	MAGI2	c.2142G>A	NM_012301.4	NP_036433.2:p.(Pro714=)	NC_000007.13:g.77824318C>T	(Likely) benign	1 lab	ed958b3468
16:53656275 RPGRIP1L C>CA	16	53656275	53656291	C	CA	RPGRIP1L	c.3295-8dup	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53656291dup	(Likely) benign	1 lab	ed96ca4c84
7:4830920 AP5Z1 C>A	7	4830920	4830920	C	A	AP5Z1	c.2328C>A	NM_014855.3	NP_055670.1:p.(Ser776Arg)	NC_000007.13:g.4830920C>A	(Likely) benign	1 lab	ed978acb64
11:71208651 NADSYN1 G>A	11	71208651	71208651	G	A	NADSYN1	c.1887G>A	NM_018161.5	NP_060631.2:p.(Pro629=)	NC_000011.9:g.71208651G>A	(Likely) benign	1 lab	ed9c03483a
16:2139740 PKD1 G>A	16	2139740	2139740	G	A	PKD1	c.12900C>T	NM_001009944.2	NP_001009944.2:p.(Pro4300=)	NC_000016.9:g.2139740G>A	(Likely) benign	1 lab	eda1f50b31
19:11687644 ACP5 G>A	19	11687644	11687644	G	A	ACP5	c.276C>T	NM_001111035.3	NP_001104505.1:p.(Asp92=)	NC_000019.9:g.11687644G>A	(Likely) benign	1 lab	eda3e47e24
3:160095306 IFT80 C>T	3	160095306	160095306	C	T	IFT80	c.282G>A	NM_020800.3	NP_065851.1:p.(Lys94=)	NC_000003.11:g.160095306C>T	(Likely) benign	1 lab	edaa4f522e
19:46269000 SIX5 G>T	19	46269000	46269000	G	T	SIX5	c.1979C>A	NM_175875.4	NP_787071.2:p.(Ala660Glu)	NC_000019.9:g.46269000G>T	(Likely) benign	1 lab	edafb2cb25
3:77657059 ROBO2 C>T	3	77657059	77657059	C	T	ROBO2	c.3247C>T	NM_002942.5	NP_002933.1:p.(Pro1083Ser)	NC_000003.11:g.77657059C>T	(Likely) benign	1 lab	edb14a18d2
14:65271650 SPTB A>G	14	65271650	65271650	A	G	SPTB	c.300+7T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271650A>G	(Likely) benign	1 lab	edb70fdc54
6:24667009 TDP2 G>C	6	24667009	24667009	G	C	TDP2	c.82C>G	NM_016614.3	NP_057698.2:p.(Leu28Val)	NC_000006.11:g.24667009G>C	(Likely) benign	1 lab	edbbd1db4e
5:89970158 ADGRV1 C>T	5	89970158	89970158	C	T	ADGRV1	c.5110+107C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89970158C>T	(Likely) benign	1 lab	edbcfa97e4
16:56916390 SLC12A3 C>T	16	56916390	56916390	C	T	SLC12A3	c.1650C>T	NM_000339.3	NP_000330.3:p.(Ala550=)	NC_000016.9:g.56916390C>T	(Likely) benign	1 lab	edc044c49b
18:28647995 DSC2 A>G	18	28647995	28647995	A	G	DSC2	c.2692T>C	NM_024422.6	NP_077740.1:p.(Cys898Arg)	NC_000018.9:g.28647995A>G	VUS	1 lab	dc4b608b4c
5:90087224 ADGRV1 G>A	5	90087224	90087224	G	A	ADGRV1	c.14517+61G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90087224G>A	(Likely) benign	1 lab	edc9a5092a
19:860784 CFD G>A	19	860784	860784	G	A	CFD	c.212+11G>A	NM_001928.2	NP_001919.2:p.?	NC_000019.9:g.860784G>A	(Likely) benign	1 lab	edd54bed71
9:140706022 EHMT1 C>A	9	140706022	140706022	C	A	EHMT1	c.2822C>A	NM_024757.5	NP_079033.4:p.(Ser941Ter)	NC_000009.11:g.140706022C>A	(Likely) pathogenic	1 lab	edd5e2a68a
17:42333076 SLC4A1 G>A	17	42333076	42333076	G	A	SLC4A1	c.1765C>T	NM_000342.4	NP_000333.1:p.(Arg589Cys)	NC_000017.10:g.42333076G>A	(Likely) pathogenic	1 lab	edd6525796
7:78119221 MAGI2 G>GA	7	78119221	78119230	G	GA	MAGI2	c.966-65dup	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.78119230dup	(Likely) benign	1 lab	edd7d71829
1:65330661 JAK1 A>G	1	65330661	65330661	A	G	JAK1	c.991-6T>C	NM_002227.4	NP_002218.2:p.?	NC_000001.10:g.65330661A>G	(Likely) benign	1 lab	eddcff95f3
19:6583432 CD70 A>G	19	6583432	6583432	A	G	CD70	c.506T>C	NM_001330332.2	NP_001317261.1:p.(Ile169Thr)	NC_000019.9:g.6583432A>G	(Likely) benign	1 lab	eddd294972
20:60885127 LAMA5 C>T	20	60885127	60885127	C	T	LAMA5	c.10745G>A	NM_005560.4	NP_005551.3:p.(Arg3582Gln)	NC_000020.10:g.60885127C>T	(Likely) benign	1 lab	eddf90ec4b
17:48244933 SGCA C>G	17	48244933	48244933	C	G	SGCA	c.158-10C>G	NM_000023.2	NP_000014.1:p.?	NC_000017.10:g.48244933C>G	(Likely) benign	1 lab	eddfc8e82f
2:162876813 DPP4 G>GTT	2	162876813	162876827	G	GTT	DPP4	c.1177-9_1177-8dup	NM_001935.4	NP_001926.2:p.?	NC_000002.11:g.162876826_162876827dup	(Likely) benign	1 lab	ede13af28d
15:42137386 JMJD7-PLA2G4B C>T	15	42137386	42137386	C	T	JMJD7-PLA2G4B	c.1933-15C>T	NM_005090.3	NP_005081.1:p.?	NC_000015.9:g.42137386C>T	(Likely) benign	1 lab	ede2fb2f9f
12:42863266 PRICKLE1 C>T	12	42863266	42863266	C	T	PRICKLE1	c.370G>A	NM_153026.3	NP_694571.2:p.(Ala124Thr)	NC_000012.11:g.42863266C>T	(Likely) benign	1 lab	ede61b0ecb
1:247597365 NLRP3 G>A	1	247597365	247597365	G	A	NLRP3	c.2322-40G>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597365G>A	(Likely) benign	1 lab	ede6744da5
14:64894035 MTHFD1 CT>C	14	64894035	64894039	CT	C	MTHFD1	c.1128-16del	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64894039del	(Likely) benign	1 lab	ede7deff30
2:179645976 TTN T>A	2	179645976	179645976	T	A	TTN	c.3395A>T	NM_001267550.2	NP_001254479.2:p.(Tyr1132Phe)	NC_000002.11:g.179645976T>A	(Likely) benign	1 lab	dc4e68abc3
18:47511113 MYO5B C>A	18	47511113	47511113	C	A	MYO5B	c.921G>T	NM_001080467.3	NP_001073936.1:p.(Lys307Asn)	NC_000018.9:g.47511113C>A	(Likely) benign	1 lab	edea69b52b
5:169685896 LCP2 G>GA	5	169685896	169685905	G	GA	LCP2	c.958-15dup	NM_005565.5	NP_005556.1:p.?	NC_000005.9:g.169685905dup	(Likely) benign	1 lab	edef2e8548
22:23915477 IGLL1 C>T	22	23915477	23915477	C	T	IGLL1				NC_000022.10:g.23915477C>T	(Likely) benign	1 lab	edf096010a
7:91707081 AKAP9 A>G	7	91707081	91707081	A	G	AKAP9	c.6837A>G	NM_005751.4	NP_005742.4:p.(Leu2279=)	NC_000007.13:g.91707081A>G	(Likely) benign	1 lab	edf9a2b722
9:6602121 GLDC G>T	9	6602121	6602121	G	T	GLDC	c.1143C>A	NM_000170.2	NP_000161.2:p.(Ile381=)	NC_000009.11:g.6602121G>T	(Likely) benign	1 lab	edfe78bbd7
1:6273206 RNF207 C>T	1	6273206	6273206	C	T	RNF207	c.1615C>T	NM_207396.3	NP_997279.2:p.(Arg539Cys)	NC_000001.10:g.6273206C>T	(Likely) benign	1 lab	ee02eec2ed
8:41559284 ANK1 C>G	8	41559284	41559284	C	G	ANK1	c.2389-144G>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41559284C>G	(Likely) benign	1 lab	ee04e7cd0e
2:31595087 XDH C>T	2	31595087	31595087	C	T	XDH	c.1856+7G>A	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31595087C>T	(Likely) benign	1 lab	ee0e3ab235
22:24709439 SPECC1L C>T	22	24709439	24709439	C	T	SPECC1L	c.307+5C>T	NM_015330.6	NP_056145.5:p.?	NC_000022.10:g.24709439C>T	(Likely) benign	1 lab	dc56086cee
4:9909926 SLC2A9 G>A	4	9909926	9909926	G	A	SLC2A9	c.1046C>T	NM_020041.3	NP_064425.2:p.(Pro349Leu)	NC_000004.11:g.9909926G>A	(Likely) benign	1 lab	ee1569900d
11:32450244 WT1 CG>C	11	32450244	32450252	CG	C	WT1	c.662-80del	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32450252del	(Likely) benign	1 lab	ee1e96dd7e
18:32409408 DTNA A>G	18	32409408	32409408	A	G	DTNA	c.176A>G	NM_001198942.1	NP_001185871.1:p.(His59Arg)	NC_000018.9:g.32409408A>G	(Likely) benign	1 lab	ee1ea9b2f9
2:228162444 COL4A3 G>A	2	228162444	228162444	G	A	COL4A3	c.3620G>A	NM_000091.4	NP_000082.2:p.(Gly1207Glu)	NC_000002.11:g.228162444G>A	(Likely) pathogenic	1 lab	ee21bef261
1:39877051 MACF1 G>C	1	39877051	39877051	G	C	MACF1	c.9631-10995G>C	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39877051G>C	VUS	1 lab	dc596b11f5
1:228494606 OBSCN G>A	1	228494606	228494606	G	A	OBSCN	c.14802G>A	NM_001271223.2	NP_001258152.2:p.(Ala4934=)	NC_000001.10:g.228494606G>A	(Likely) benign	1 lab	ee2870bffc
22:17589209 IL17RA C>T	22	17589209	17589209	C	T	IL17RA	c.1100C>T	NM_014339.6	NP_055154.3:p.(Ala367Val)	NC_000022.10:g.17589209C>T	(Likely) benign	1 lab	ee2a48fb0c
17:44074071 MAPT G>A	17	44074071	44074071	G	A	MAPT	c.1827+41G>A	NM_001123066.3	NP_001116538.2:p.?	NC_000017.10:g.44074071G>A	(Likely) benign	1 lab	ee2da43284
3:164732955 SI C>T	3	164732955	164732955	C	T	SI	c.3955G>A	NM_001041.4	NP_001032.2:p.(Val1319Ile)	NC_000003.11:g.164732955C>T	(Likely) benign	1 lab	ee30f4353d
11:36595105 RAG1 A>G	11	36595105	36595105	A	G	RAG1	c.251A>G	NM_000448.2	NP_000439.1:p.(His84Arg)	NC_000011.9:g.36595105A>G	(Likely) benign	1 lab	ee30f583aa
15:31212765 FAN1 C>T	15	31212765	31212765	C	T	FAN1	c.1961C>T	NM_014967.5	NP_055782.3:p.(Pro654Leu)	NC_000015.9:g.31212765C>T	(Likely) benign	1 lab	ee34a2dbf3
6:152453257 SYNE1 CGTTTTCT>C	6	152453257	152453266	CGTTTTCT	C	SYNE1	c.26087_26093del	NM_182961.4	NP_892006.3:p.(Gln8696ArgfsTer112)	NC_000006.11:g.152453260_152453266del	(Likely) pathogenic	1 lab	ee3e12a718
8:30567423 GSR TAA>T	8	30567423	30567441	TAA	T	GSR	c.334-6_334-5del	NM_000637.5	NP_000628.2:p.?	NC_000008.10:g.30567440_30567441del	(Likely) benign	1 lab	ee3edef85d
9:130579484 ENG T>C	9	130579484	130579484	T	C	ENG	c.1687-2A>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130579484T>C	(Likely) pathogenic	1 lab	ee44a4e98d
1:27101592 ARID1A T>A	1	27101592	27101592	T	A	ARID1A	c.4874T>A	NM_006015.6	NP_006006.3:p.(Ile1625Lys)	NC_000001.10:g.27101592T>A	VUS	1 lab	dc6014d751
18:59757695 PIGN CT>C	18	59757695	59757698	CT	C	PIGN	c.2283+13del	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59757698del	(Likely) benign	1 lab	ee46d6bceb
10:95931103 PLCE1 C>T	10	95931103	95931103	C	T	PLCE1	c.1659C>T	NM_016341.3	NP_057425.3:p.(Val553=)	NC_000010.10:g.95931103C>T	(Likely) benign	1 lab	ee4ae80e54
7:35244086 TBX20 A>T	7	35244086	35244086	A	T	TBX20	c.999T>A	NM_001077653.2	NP_001071121.1:p.(Asn333Lys)	NC_000007.13:g.35244086A>T	(Likely) benign	1 lab	ee4ba45bdb
4:79400404 FRAS1 C>T	4	79400404	79400404	C	T	FRAS1	c.8099-124C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79400404C>T	(Likely) benign	1 lab	ee4c909dd5
21:47418805 COL6A1 C>T	21	47418805	47418805	C	T	COL6A1	c.1612-6C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47418805C>T	(Likely) benign	1 lab	ee5049b518
16:67693171 ACD A>G	16	67693171	67693171	A	G	ACD	c.459-5T>C	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67693171A>G	(Likely) benign	1 lab	ee54b39db5
4:155507215 FGA T>C	4	155507215	155507215	T	C	FGA	c.1366A>G	NM_000508.3	NP_000499.1:p.(Thr456Ala)	NC_000004.11:g.155507215T>C	(Likely) benign	1 lab	ee5cd2fd88
16:2104363 TSC2 G>A	16	2104363	2104363	G	A	TSC2	c.403G>A	NM_000548.5	NP_000539.2:p.(Asp135Asn)	NC_000016.9:g.2104363G>A	VUS	1 lab	dc622305f8
8:17927463 ASAH1 T>A	8	17927463	17927463	T	A	ASAH1	c.265-76A>T	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17927463T>A	(Likely) benign	1 lab	ee61449e05
12:6439041 TNFRSF1A C>T	12	6439041	6439041	C	T	TNFRSF1A	c.960G>A	NM_001065.3	NP_001056.1:p.(Gly320=)	NC_000012.11:g.6439041C>T	(Likely) benign	1 lab	ee61b76453
2:179418362 TTN GA>G	2	179418362	179418363	GA	G	TTN	c.89369del	NM_001267550.2	NP_001254479.2:p.(Val29790AlafsTer11)	NC_000002.11:g.179418363del	(Likely) pathogenic	1 lab	ee69c47bc6
21:34954370 DONSON T>C	21	34954370	34954370	T	C	DONSON	c.1047-9A>G	NM_017613.4	NP_060083.1:p.?	NC_000021.8:g.34954370T>C	(Likely) pathogenic	1 lab	ee6c670c5e
1:62728902 KANK4 A>G	1	62728902	62728902	A	G	KANK4	c.2401T>C	NM_181712.5	NP_859063.3:p.(Tyr801His)	NC_000001.10:g.62728902A>G	(Likely) benign	1 lab	ee70757fb9
3:14177379 TMEM43 C>T	3	14177379	14177379	C	T	TMEM43	c.853C>T	NM_024334.2	NP_077310.1:p.(Leu285Phe)	NC_000003.11:g.14177379C>T	VUS	1 lab	ee775dc93f
16:75589749 TMEM231 C>T	16	75589749	75589749	C	T	TMEM231	c.421G>A	NM_001077416.2	NP_001070884.2:p.(Ala141Thr)	NC_000016.9:g.75589749C>T	(Likely) benign	1 lab	ee7f172155
2:219527739 BCS1L G>A	2	219527739	219527739	G	A	BCS1L	c.1007+16G>A	NM_004328.4	NP_004319.1:p.?	NC_000002.11:g.219527739G>A	(Likely) benign	1 lab	ee809b3cdd
15:42681930 CAPN3 G>A	15	42681930	42681930	G	A	CAPN3	c.802-221G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42681930G>A	(Likely) benign	1 lab	ee839ebad2
X:22266057 PHEX G>A	X	22266057	22266057	G	A	PHEX	c.2237G>A	NM_000444.6	NP_000435.3:p.(Cys746Tyr)	NC_000023.10:g.22266057G>A	(Likely) pathogenic	1 lab	ee85d1a21f
6:32725625 HLA-DQB2 T>C	6	32725625	32725625	T	C	HLA-DQB2	c.647-544A>G	NM_001198858.2	NP_001185787.1:p.?	NC_000006.11:g.32725625T>C	(Likely) benign	1 lab	dc70072a9a
16:23646752 PALB2 C>G	16	23646752	23646752	C	G	PALB2	c.1115G>C	NM_024675.3	NP_078951.2:p.(Ser372Thr)	NC_000016.9:g.23646752C>G	VUS	1 lab	ee882b4fa0
X:129272633 AIFM1 T>C	X	129272633	129272633	T	C	AIFM1	c.902A>G	NM_001130847.4	NP_001124319.1:p.(Lys301Arg)	NC_000023.10:g.129272633T>C	VUS	1 lab	dc70d1bb22
17:76117158 TMC6 G>A	17	76117158	76117158	G	A	TMC6	c.1471C>T	NM_007267.6	NP_009198.4:p.(Arg491Cys)	NC_000017.10:g.76117158G>A	(Likely) benign	1 lab	ee9b9c4ccc
11:66455731 SPTBN2 G>A	11	66455731	66455731	G	A	SPTBN2	c.6283C>T	NM_006946.4	NP_008877.2:p.(Arg2095Trp)	NC_000011.9:g.66455731G>A	VUS	1 lab	dc7142e94b
5:14769075 ANKH C>G	5	14769075	14769075	C	G	ANKH	c.313+9G>C	NM_054027.6	NP_473368.1:p.?	NC_000005.9:g.14769075C>G	(Likely) benign	1 lab	dc728e3eac
17:37557624 FBXL20 C>T	17	37557624	37557624	C	T	FBXL20	c.32G>A	NM_032875.3	NP_116264.2:p.(Ser11Asn)	NC_000017.10:g.37557624C>T	(Likely) benign	1 lab	eea22f94c6
X:153599742 FLNA C>G	X	153599742	153599742	C	G	FLNA	c.-116-13G>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153599742C>G	(Likely) benign	1 lab	eeac843066
12:20968741 SLCO1B3 C>T	12	20968741	20968741	C	T	SLCO1B3	c.69C>T	NM_019844.3	NP_062818.1:p.(Arg23=)	NC_000012.11:g.20968741C>T	(Likely) benign	1 lab	eead77816a
15:35084684 ACTC1 C>G	15	35084684	35084684	C	G	ACTC1	c.541G>C	NM_005159.4	NP_005150.1:p.(Asp181His)	NC_000015.9:g.35084684C>G	VUS	1 lab	eeae97b120
8:22872240 RHOBTB2 G>A	8	22872240	22872240	G	A	RHOBTB2	c.1875G>A	NM_001160036.2	NP_001153508.1:p.(Gln625=)	NC_000008.10:g.22872240G>A	(Likely) benign	1 lab	eeaf40e7ae
2:179486720 TTN CTT>C	2	179486720	179486723	CTT	C	TTN	c.44927_44928del	NM_001267550.2	NP_001254479.2:p.(Lys14976ArgfsTer4)	NC_000002.11:g.179486722_179486723del	(Likely) pathogenic	1 lab	eeb6bc31d4
X:44918237 KDM6A C>T	X	44918237	44918237	C	T	KDM6A	c.876-14C>T	NM_001291415.1	NP_001278344.1:p.?	NC_000023.10:g.44918237C>T	(Likely) benign	1 lab	eeb8dccaaf
6:85446837 TBX18 T>G	6	85446837	85446837	T	G	TBX18	c.1390A>C	NM_001080508.3	NP_001073977.1:p.(Thr464Pro)	NC_000006.11:g.85446837T>G	(Likely) benign	1 lab	eeba3b5ec7
15:99442741 IGF1R C>T	15	99442741	99442741	C	T	IGF1R	c.1138C>T	NM_000875.5	NP_000866.1:p.(Leu380Phe)	NC_000015.9:g.99442741C>T	VUS	1 lab	dc73f31a33
3:14173143 TMEM43 A>G	3	14173143	14173143	A	G	TMEM43	c.361A>G	NM_024334.2	NP_077310.1:p.(Met121Val)	NC_000003.11:g.14173143A>G	VUS	1 lab	eec77af4bf
1:63902565 ALG6 A>T	1	63902565	63902565	A	T	ALG6	c.1398A>T	NM_013339.4	NP_037471.2:p.(Leu466=)	NC_000001.10:g.63902565A>T	(Likely) benign	1 lab	eed5172d87
2:176983668 HOXD10 TTTAA>T	2	176983668	176983674	TTTAA	T	HOXD10	c.746-11_746-8del	NM_002148.4	NP_002139.2:p.?	NC_000002.11:g.176983671_176983674del	(Likely) benign	1 lab	eed51e71eb
10:131760500 EBF3 AAC>A	10	131760500	131760503	AAC	A	EBF3	c.356-12_356-11del	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131760502_131760503del	(Likely) benign	1 lab	eed59185bd
22:51065261 ARSA C>T	22	51065261	51065261	C	T	ARSA	c.684+1G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51065261C>T	(Likely) pathogenic	1 lab	eed6d32025
11:792692 SLC25A22 G>C	11	792692	792692	G	C	SLC25A22	c.448C>G	NM_001191060.1	NP_001177989.1:p.(Leu150Val)	NC_000011.9:g.792692G>C	(Likely) benign	1 lab	eedc30d73b
7:158439163 NCAPG2 C>T	7	158439163	158439163	C	T	NCAPG2	c.3168G>A	NM_017760.7	NP_060230.5:p.(Ser1056=)	NC_000007.13:g.158439163C>T	(Likely) benign	1 lab	eedd7a9a2b
2:74315043 TET3 C>T	2	74315043	74315043	C	T	TET3	c.2766C>T	NM_001287491.2	NP_001274420.1:p.(Val922=)	NC_000002.11:g.74315043C>T	(Likely) benign	1 lab	eede9d19d5
2:241679706 KIF1A G>A	2	241679706	241679706	G	A	KIF1A	c.3816+9C>T	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241679706G>A	(Likely) benign	1 lab	eeded803d4
7:153749963 DPP6 G>A	7	153749963	153749963	G	A	DPP6	c.58G>A	NM_130797.4	NP_570629.2:p.(Ala20Thr)	NC_000007.13:g.153749963G>A	VUS	1 lab	eedfd3ffa6
19:55668471 TNNI3 T>C	19	55668471	55668471	T	C	TNNI3	c.55A>G	NM_000363.4	NP_000354.4:p.(Ile19Val)	NC_000019.9:g.55668471T>C	(Likely) benign	1 lab	eee3b5c07c
1:207646477 CR2 G>A	1	207646477	207646477	G	A	CR2	c.1931G>A	NM_001006658.3	NP_001006659.1:p.(Cys644Tyr)	NC_000001.10:g.207646477G>A	VUS	1 lab	dc751cc38e
6:157256633 ARID1B C>T	6	157256633	157256633	C	T	ARID1B	c.2209C>T	NM_001371656.1	NP_001358585.1:p.(Gln737Ter)	NC_000006.11:g.157256633C>T	(Likely) pathogenic	1 lab	eee556bcb9
1:150116925 VPS45 G>A	1	150116925	150116925	G	A	VPS45	c.1664G>A	NM_007259.4	NP_009190.2:p.(Arg555Gln)	NC_000001.10:g.150116925G>A	(Likely) benign	1 lab	eee55edcad
2:179427853 TTN CT>C	2	179427853	179427854	CT	C	TTN	c.83005del	NM_001267550.2	NP_001254479.2:p.(Arg27669GlyfsTer2)	NC_000002.11:g.179427854del	(Likely) pathogenic	1 lab	eee58a0935
1:29442328 EPB41 C>T	1	29442328	29442328	C	T	EPB41	c.*6+13C>T	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29442328C>T	(Likely) benign	1 lab	eee6994219
18:44135143 LOXHD1 T>C	18	44135143	44135143	T	C	LOXHD1	c.3350+2176A>G	NM_144612.7	NP_653213.6:p.?	NC_000018.9:g.44135143T>C	(Likely) benign	1 lab	dc7641abde
10:73330674 CDH23 C>T	10	73330674	73330674	C	T	CDH23	c.752C>T	NM_022124.6	NP_071407.4:p.(Pro251Leu)	NC_000010.10:g.73330674C>T	VUS	1 lab	dc76fb9791
22:36691543 MYH9 G>A	22	36691543	36691543	G	A	MYH9	c.3485+8C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36691543G>A	(Likely) benign	1 lab	eeed20015a
6:133783623 EYA4 A>C	6	133783623	133783623	A	C	EYA4	c.580+8A>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133783623A>C	(Likely) benign	1 lab	eeeda5e625
1:158653310 SPTA1 T>G	1	158653310	158653310	T	G	SPTA1	c.265-24A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158653310T>G	(Likely) benign	1 lab	eeeed53fdd
16:89357536 ANKRD11 G>C	16	89357536	89357536	G	C	ANKRD11	c.282C>G	NM_001256182.2	NP_001243111.1:p.(Ala94=)	NC_000016.9:g.89357536G>C	(Likely) benign	1 lab	eeef866723
1:19477081 UBR4 C>T	1	19477081	19477081	C	T	UBR4	c.7420G>A	NM_020765.3	NP_065816.2:p.(Val2474Ile)	NC_000001.10:g.19477081C>T	VUS	1 lab	dc7a17847f
4:123665040 BBS12 G>A	4	123665040	123665040	G	A	BBS12	c.1993G>A	NM_152618.3	NP_689831.2:p.(Val665Ile)	NC_000004.11:g.123665040G>A	(Likely) benign	1 lab	eef656e41c
16:2121833 TSC2 T>C	16	2121833	2121833	T	C	TSC2	c.1995T>C	NM_000548.5	NP_000539.2:p.(Pro665=)	NC_000016.9:g.2121833T>C	(Likely) benign	1 lab	dc7b8f2d57
6:7579888 DSP G>A	6	7579888	7579888	G	A	DSP	c.3465G>A	NM_004415.2	NP_004406.2:p.(Trp1155Ter)	NC_000006.11:g.7579888G>A	(Likely) pathogenic	1 lab	eef7065942
X:39922878 BCOR G>A	X	39922878	39922878	G	A	BCOR	c.3728C>T	NM_017745.6	NP_060215.4:p.(Pro1243Leu)	NC_000023.10:g.39922878G>A	VUS	1 lab	dc7d572a6b
8:100396536 VPS13B T>C	8	100396536	100396536	T	C	VPS13B	c.2925T>C	NM_017890.4	NP_060360.3:p.(His975=)	NC_000008.10:g.100396536T>C	(Likely) benign	1 lab	eefeb31148
15:93527880 CHD2 A>G	15	93527880	93527880	A	G	CHD2	c.3237+150A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93527880A>G	(Likely) benign	1 lab	eeffc782c0
2:170344503 BBS5 C>T	2	170344503	170344503	C	T	BBS5	c.265C>T	NM_152384.3	NP_689597.1:p.(Arg89Ter)	NC_000002.11:g.170344503C>T	(Likely) pathogenic	1 lab	ef00441e70
1:154569580 ADAR G>A	1	154569580	154569580	G	A	ADAR	c.1194+19C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154569580G>A	(Likely) benign	1 lab	dc82054442
16:2141134 PKD1 C>G	16	2141134	2141134	C	G	PKD1	c.11754G>C	NM_001009944.2	NP_001009944.2:p.(Glu3918Asp)	NC_000016.9:g.2141134C>G	VUS	1 lab	ef0b33c737
2:177193133 MTX2 G>A	2	177193133	177193133	G	A	MTX2	c.348+20G>A	NM_001006635.3	NP_001006636.1:p.?	NC_000002.11:g.177193133G>A	(Likely) benign	1 lab	ef111b101c
2:179610410 TTN T>C	2	179610410	179610410	T	C	TTN	c.16717A>G	NM_133379.5	NP_596870.2:p.(Ile5573Val)	NC_000002.11:g.179610410T>C	VUS	1 lab	dc8930083c
16:2160371 PKD1 G>GT	16	2160371	2160372	G	GT	PKD1	c.4796dup	NM_001009944.2	NP_001009944.2:p.(Tyr1599Ter)	NC_000016.9:g.2160372dup	(Likely) pathogenic	1 lab	ef19f501ef
5:176939489 DDX41 G>A	5	176939489	176939489	G	A	DDX41	c.1549+8C>T	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176939489G>A	(Likely) benign	1 lab	ef1c55c251
9:101867529 TGFBR1 C>T	9	101867529	101867529	C	T	TGFBR1	c.42C>T	NM_004612.4	NP_004603.1:p.(Leu14=)	NC_000009.11:g.101867529C>T	(Likely) benign	1 lab	ef1e710e38
X:73963954 NEXMIF G>T	X	73963954	73963954	G	T	NEXMIF	c.438C>A	NM_001008537.3	NP_001008537.1:p.(Cys146Ter)	NC_000023.10:g.73963954G>T	(Likely) pathogenic	1 lab	ef2403b8d7
1:158632759 SPTA1 C>T	1	158632759	158632759	C	T	SPTA1	c.2221-24G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158632759C>T	(Likely) benign	1 lab	ef26661ffa
15:42108788 MAPKBP1 C>T	15	42108788	42108788	C	T	MAPKBP1	c.1543C>T	NM_001128608.2	NP_001122080.1:p.(Leu515=)	NC_000015.9:g.42108788C>T	(Likely) benign	1 lab	ef28c7252b
9:139390947 NOTCH1 G>A	9	139390947	139390947	G	A	NOTCH1	c.7244C>T	NM_017617.5	NP_060087.3:p.(Pro2415Leu)	NC_000009.11:g.139390947G>A	(Likely) benign	1 lab	ef34412a74
9:134395536 POMT1 AC>A	9	134395536	134395539	AC	A	POMT1	c.1657del	NM_001077365.2	NP_001070833.1:p.(Leu553TrpfsTer23)	NC_000009.11:g.134395539del	(Likely) pathogenic	1 lab	ef384ccf97
19:55450462 NLRP7 C>A	19	55450462	55450462	C	A	NLRP7	c.1725G>T	NM_001127255.1	NP_001120727.1:p.(Leu575=)	NC_000019.9:g.55450462C>A	(Likely) benign	1 lab	ef3b543976
5:90051087 ADGRV1 T>TTCC	5	90051087	90051089	T	TTCC	ADGRV1	c.11580+86_11580+87insCCT	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90051088_90051089insCCT	(Likely) benign	1 lab	ef3bbf05a0
12:12038902 ETV6 C>T	12	12038902	12038902	C	T	ETV6	c.1195C>T	NM_001987.4	NP_001978.1:p.(Arg399Cys)	NC_000012.11:g.12038902C>T	(Likely) pathogenic	1 lab	ef3f3de327
7:98491437 TRRAP A>T	7	98491437	98491437	A	T	TRRAP	c.383A>T	NM_003496.4	NP_003487.1:p.(Asn128Ile)	NC_000007.13:g.98491437A>T	(Likely) benign	1 lab	dc8c594c0f
X:49855431 CLCN5 C>T	X	49855431	49855431	C	T	CLCN5	c.2038C>T	NM_000084.5	NP_000075.1:p.(Arg680Trp)	NC_000023.10:g.49855431C>T	VUS	1 lab	ef42d191f4
X:100611047 BTK C>T	X	100611047	100611047	C	T	BTK	c.1559G>A	NM_000061.2	NP_000052.1:p.(Arg520Gln)	NC_000023.10:g.100611047C>T	(Likely) pathogenic	1 lab	ef438fc00f
9:138664604 KCNT1 G>A	9	138664604	138664604	G	A	KCNT1	c.2052G>A	NM_020822.2	NP_065873.2:p.(Thr684=)	NC_000009.11:g.138664604G>A	(Likely) benign	1 lab	ef45f496fe
18:48447564 ME2 T>C	18	48447564	48447564	T	C	ME2	c.1056+7T>C	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48447564T>C	(Likely) benign	1 lab	ef4922aa0f
14:65264222 SPTB G>A	14	65264222	65264222	G	A	SPTB	c.1182+225C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65264222G>A	(Likely) benign	1 lab	ef4cbe3d4e
10:69954253 MYPN T>C	10	69954253	69954253	T	C	MYPN	c.3059T>C	NM_032578.4	NP_115967.2:p.(Met1020Thr)	NC_000010.10:g.69954253T>C	VUS	1 lab	dc8d468491
2:227898198 COL4A4 C>T	2	227898198	227898198	C	T	COL4A4	c.3506-1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227898198C>T	(Likely) pathogenic	1 lab	ef51551249
2:179478776 TTN T>C	2	179478776	179478776	T	C	TTN	c.49345+3A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179478776T>C	VUS	1 lab	ef5480bf4c
9:138651564 KCNT1 C>T	9	138651564	138651564	C	T	KCNT1	c.894C>T	NM_020822.2	NP_065873.2:p.(Asn298=)	NC_000009.11:g.138651564C>T	(Likely) benign	1 lab	ef56563ddf
16:3304580 MEFV T>G	16	3304580	3304580	T	G	MEFV	c.488A>C	NM_000243.2	NP_000234.1:p.(Glu163Ala)	NC_000016.9:g.3304580T>G	VUS	1 lab	ef56942d50
21:45713803 AIRE C>T	21	45713803	45713803	C	T	AIRE				NC_000021.8:g.45713803C>T	(Likely) benign	1 lab	ef58a6a99e
4:110667460 CFI G>A	4	110667460	110667460	G	A	CFI	c.1347C>T	NM_000204.3	NP_000195.2:p.(Ser449=)	NC_000004.11:g.110667460G>A	(Likely) benign	1 lab	ef59257e89
1:6008244 NPHP4 T>C	1	6008244	6008244	T	C	NPHP4	c.878A>G	NM_015102.5	NP_055917.1:p.(Asn293Ser)	NC_000001.10:g.6008244T>C	VUS	1 lab	efb24327c2
2:85770099 MAT2A A>G	2	85770099	85770099	A	G	MAT2A	c.1027A>G	NM_005911.6	NP_005902.1:p.(Arg343Gly)	NC_000002.11:g.85770099A>G	(Likely) benign	1 lab	ef5b2e7e2b
3:148880024 HPS3 C>T	3	148880024	148880024	C	T	HPS3	c.2196C>T	NM_032383.5	NP_115759.2:p.(His732=)	NC_000003.11:g.148880024C>T	(Likely) benign	1 lab	ef5fb96ebd
1:196882003 CFHR4 T>A	1	196882003	196882003	T	A	CFHR4	c.1131T>A	NM_001201550.3	NP_001188479.1:p.(Gly377=)	NC_000001.10:g.196882003T>A	(Likely) benign	1 lab	ef61ff2f58
3:41268844 CTNNB1 G>C	3	41268844	41268844	G	C	CTNNB1	c.1081+1G>C	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41268844G>C	(Likely) pathogenic	1 lab	ef65729164
19:2116594 AP3D1 A>T	19	2116594	2116594	A	T	AP3D1	c.2001+10T>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2116594A>T	(Likely) benign	1 lab	ef660f075a
3:184076077 CLCN2 C>T	3	184076077	184076077	C	T	CLCN2	c.374G>A	NM_004366.6	NP_004357.3:p.(Gly125Asp)	NC_000003.11:g.184076077C>T	VUS	1 lab	dc92b5fc07
15:85405991 ALPK3 G>A	15	85405991	85405991	G	A	ALPK3	c.4861G>A	NM_020778.4	NP_065829.3:p.(Gly1621Ser)	NC_000015.9:g.85405991G>A	(Likely) benign	1 lab	ef71790310
6:32063370 TNXB G>C	6	32063370	32063370	G	C	TNXB	c.2242+18C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32063370G>C	(Likely) benign	1 lab	ef76bbf3cd
16:1255285 CACNA1H C>A	16	1255285	1255285	C	A	CACNA1H	c.2603+20C>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1255285C>A	(Likely) benign	1 lab	ef792afc0a
4:156643183 GUCY1A1 C>A	4	156643183	156643183	C	A	GUCY1A1	c.1717-7C>A	NM_000856.6	NP_000847.2:p.?	NC_000004.11:g.156643183C>A	(Likely) benign	1 lab	ef7bcb4c65
21:35206735 ITSN1 A>C	21	35206735	35206735	A	C	ITSN1	c.3469+7A>C	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35206735A>C	(Likely) benign	1 lab	ef83e55c41
16:79628501 MAF G>A	16	79628501	79628501	G	A	MAF	c.1119-51C>T	NM_005360.5	NP_005351.2:p.?	NC_000016.9:g.79628501G>A	(Likely) benign	1 lab	dc94714c67
19:54297235 NLRP12 G>A	19	54297235	54297235	G	A	NLRP12	c.*68C>T	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54297235G>A	(Likely) benign	1 lab	ef89ba21e0
2:149243369 MBD5 G>A	2	149243369	149243369	G	A	MBD5	c.2904G>A	NM_018328.4	NP_060798.2:p.(Ser968=)	NC_000002.11:g.149243369G>A	(Likely) benign	1 lab	ef8aeeb67a
1:26385098 TRIM63 A>G	1	26385098	26385098	A	G	TRIM63	c.614T>C	NM_032588.3	NP_115977.2:p.(Val205Ala)	NC_000001.10:g.26385098A>G	(Likely) benign	1 lab	ef90c5daf5
11:4107855 STIM1 T>C	11	4107855	4107855	T	C	STIM1	c.1623T>C	NM_001277961.1	NP_001264890.1:p.(Ser541=)	NC_000011.9:g.4107855T>C	(Likely) benign	1 lab	ef91e37f0e
1:11850840 MTHFR T>A	1	11850840	11850840	T	A	MTHFR	c.1868A>T	NM_005957.5	NP_005948.3:p.(Asp623Val)	NC_000001.10:g.11850840T>A	VUS	1 lab	dc9765b5ac
12:31242869 DDX11 G>A	12	31242869	31242869	G	A	DDX11	c.930G>A	NM_030653.4	NP_085911.2:p.(Glu310=)	NC_000012.11:g.31242869G>A	(Likely) benign	1 lab	ef941584a7
6:32943407 BRD2 A>T	6	32943407	32943407	A	T	BRD2	c.471+109A>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943407A>T	(Likely) benign	1 lab	ef951242ef
20:42745060 JPH2 C>A	20	42745060	42745060	C	A	JPH2	c.1289-34G>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42745060C>A	(Likely) benign	1 lab	dc9cee70a1
9:14813072 FREM1 G>A	9	14813072	14813072	G	A	FREM1	c.2641-10C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14813072G>A	(Likely) benign	1 lab	efa918d306
21:33044405 SCAF4 C>A	21	33044405	33044405	C	A	SCAF4	c.2751G>T	NM_020706.2	NP_065757.1:p.(Arg917Ser)	NC_000021.8:g.33044405C>A	VUS	1 lab	dc9edbbdee
5:148442297 SH3TC2 C>T	5	148442297	148442297	C	T	SH3TC2	c.52+237G>A	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148442297C>T	(Likely) benign	1 lab	efae1dc3c7
2:166231103 SCN2A T>A	2	166231103	166231103	T	A	SCN2A	c.3973-92T>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166231103T>A	(Likely) benign	1 lab	efaf6641b3
8:144808926 SACK1H C>T	8	144808926	144808926	C	T	SACK1H	c.2705G>A	NM_198488.3	NP_940890.3:p.(Gly902Glu)	NC_000008.10:g.144808926C>T	(Likely) benign	1 lab	efb9ecea05
9:108402453 FKTN A>G	9	108402453	108402453	A	G	FKTN	c.*4908A>G	NM_001079802.1	NP_001073270.1:p.?	NC_000009.11:g.108402453A>G	(Likely) benign	1 lab	efbd749d85
7:101840041 CUX1 G>C	7	101840041	101840041	G	C	CUX1	c.1383G>C	NM_001202543.2	NP_001189472.1:p.(Gln461His)	NC_000007.13:g.101840041G>C	VUS	1 lab	dc9f5aa696
5:55206444 IL31RA G>A	5	55206444	55206444	G	A	IL31RA	c.1529G>A	NM_001242638.2	NP_001229567.1:p.(Ser510Asn)	NC_000005.9:g.55206444G>A	(Likely) benign	1 lab	dca125603c
1:160321481 NCSTN C>T	1	160321481	160321481	C	T	NCSTN	c.734-5C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160321481C>T	(Likely) benign	1 lab	efff2c0f3f
1:155209725 GBA1 G>A	1	155209725	155209725	G	A	GBA1	c.259C>T	NM_001005741.3	NP_001005741.1:p.(Arg87Trp)	NC_000001.10:g.155209725G>A	(Likely) pathogenic	1 lab	dca2b217a3
9:139399397 NOTCH1 C>T	9	139399397	139399397	C	T	NOTCH1	c.4746G>A	NM_017617.5	NP_060087.3:p.(Pro1582=)	NC_000009.11:g.139399397C>T	(Likely) benign	1 lab	efc700fd15
2:219942093 NHEJ1 T>A	2	219942093	219942093	T	A	NHEJ1	c.707-7A>T	NM_024782.2	NP_079058.1:p.?	NC_000002.11:g.219942093T>A	(Likely) benign	1 lab	efc72e2c27
10:18828282 CACNB2 C>T	10	18828282	18828282	C	T	CACNB2	c.1447C>T	NM_000724.4	NP_000715.2:p.(His483Tyr)	NC_000010.10:g.18828282C>T	VUS	1 lab	efc7ffb5fd
14:65271480 SPTB A>G	14	65271480	65271480	A	G	SPTB	c.300+177T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271480A>G	(Likely) benign	1 lab	efca1a6b56
22:32272376 DEPDC5 C>CG	22	32272376	32272377	C	CG	DEPDC5	c.3805+125_3805+126insG	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32272376_32272377insG	(Likely) benign	1 lab	efd23a90b1
1:156882757 PEAR1 C>G	1	156882757	156882757	C	G	PEAR1	c.2405C>G	NM_001080471.1	NP_001073940.1:p.(Ser802Cys)	NC_000001.10:g.156882757C>G	(Likely) benign	1 lab	efd2a1ac5a
19:11557933 PRKCSH C>T	19	11557933	11557933	C	T	PRKCSH	c.807C>T	NM_002743.3	NP_002734.2:p.(Tyr269=)	NC_000019.9:g.11557933C>T	(Likely) benign	1 lab	efd5e3efbe
17:78175689 CARD14 C>T	17	78175689	78175689	C	T	CARD14	c.1978+20C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78175689C>T	(Likely) benign	1 lab	efd97f4f31
22:36661791 APOL1 C>T	22	36661791	36661791	C	T	APOL1	c.909C>T	NM_003661.4	NP_003652.2:p.(Arg303=)	NC_000022.10:g.36661791C>T	(Likely) benign	1 lab	efdf33d534
16:67690451 CARMIL2 T>C	16	67690451	67690451	T	C	CARMIL2	c.3939T>C	NM_001013838.3	NP_001013860.1:p.(Pro1313=)	NC_000016.9:g.67690451T>C	(Likely) benign	1 lab	efe12620d5
21:44838959 SIK1 C>T	21	44838959	44838959	C	T	SIK1	c.1404G>A	NM_173354.5	NP_775490.2:p.(Thr468=)	NC_000021.8:g.44838959C>T	(Likely) benign	1 lab	efe34365e2
11:14900968 CYP2R1 T>G	11	14900968	14900968	T	G	CYP2R1	c.1022A>C	NM_024514.4	NP_078790.2:p.(Asp341Ala)	NC_000011.9:g.14900968T>G	VUS	1 lab	efe3c5dfdd
5:177577868 NHP2 AG>A	5	177577868	177577873	AG	A	NHP2	c.336+20del	NM_017838.4	NP_060308.1:p.?	NC_000005.9:g.177577873del	(Likely) benign	1 lab	efe5716616
10:17083054 CUBN T>C	10	17083054	17083054	T	C	CUBN	c.3995A>G	NM_001081.3	NP_001072.2:p.(Asn1332Ser)	NC_000010.10:g.17083054T>C	(Likely) benign	1 lab	efea4668dd
16:3304754 MEFV G>T	16	3304754	3304754	G	T	MEFV	c.314C>A	NM_000243.2	NP_000234.1:p.(Ala105Glu)	NC_000016.9:g.3304754G>T	VUS	1 lab	efefa44a00
3:10183657 VHL G>C	3	10183657	10183657	G	C	VHL	c.126G>C	NM_000551.3	NP_000542.1:p.(Glu42Asp)	NC_000003.11:g.10183657G>C	(Likely) benign	1 lab	eff3b78b58
11:1266625 MUC5B ACCACGG>A	11	1266625	1266641	ACCACGG	A	MUC5B	c.8526_8531del	NM_002458.3	NP_002449.2:p.(Ala2843_Thr2844del)	NC_000011.9:g.1266636_1266641del	(Likely) benign	1 lab	dca31dd884
19:45866984 ERCC2 G>A	19	45866984	45866984	G	A	ERCC2	c.1118+17C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45866984G>A	(Likely) benign	1 lab	f001f97634
17:42882847 GJC1 C>T	17	42882847	42882847	C	T	GJC1	c.339G>A	NM_005497.4	NP_005488.2:p.(Arg113=)	NC_000017.10:g.42882847C>T	(Likely) benign	1 lab	f0021740cc
21:45194508 CSTB G>C	21	45194508	45194508	G	C	CSTB	c.168+31C>G	NM_000100.3	NP_000091.1:p.?	NC_000021.8:g.45194508G>C	VUS	1 lab	f00563edef
2:71825797 DYSF C>T	2	71825797	71825797	C	T	DYSF	c.3675C>T	NM_001130981.2	NP_001124453.1:p.(Ile1225=)	NC_000002.11:g.71825797C>T	(Likely) benign	1 lab	f009e543eb
19:46270338 SIX5 T>C	19	46270338	46270338	T	C	SIX5	c.879A>G	NM_175875.4	NP_787071.2:p.(Pro293=)	NC_000019.9:g.46270338T>C	(Likely) benign	1 lab	f00a95a7fc
1:154543587 CHRNB2 C>T	1	154543587	154543587	C	T	CHRNB2	c.366-78C>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154543587C>T	(Likely) benign	1 lab	f00b54dee9
17:40369376 STAT5B C>T	17	40369376	40369376	C	T	STAT5B	c.1257+19G>A	NM_012448.3	NP_036580.2:p.?	NC_000017.10:g.40369376C>T	(Likely) benign	1 lab	f0108f9e15
2:189918632 COL5A2 G>A	2	189918632	189918632	G	A	COL5A2	c.2488C>T	NM_000393.5	NP_000384.2:p.(Arg830Trp)	NC_000002.11:g.189918632G>A	VUS	1 lab	f015394195
6:7584047 DSP G>T	6	7584047	7584047	G	T	DSP	c.6552G>T	NM_004415.2	NP_004406.2:p.(Val2184=)	NC_000006.11:g.7584047G>T	(Likely) benign	1 lab	f017ddec19
16:81303759 BCO1 T>C	16	81303759	81303759	T	C	BCO1	c.844-5T>C	NM_017429.3	NP_059125.2:p.?	NC_000016.9:g.81303759T>C	(Likely) benign	1 lab	dca5698299
7:56088834 PSPH C>G	7	56088834	56088834	C	G	PSPH	c.72G>C	NM_004577.4	NP_004568.2:p.(Thr24=)	NC_000007.13:g.56088834C>G	(Likely) benign	1 lab	f01bc2acc2
5:147505308 SPINK5 A>G	5	147505308	147505308	A	G	SPINK5	c.2762A>G	NM_006846.3	NP_006837.2:p.(Asn921Ser)	NC_000005.9:g.147505308A>G	(Likely) benign	1 lab	f01d3cba19
22:32194502 DEPDC5 TA>T	22	32194502	32194506	TA	T	DEPDC5	c.872-62del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32194506del	(Likely) benign	1 lab	f01df95e78
16:1497731 CLCN7 G>T	16	1497731	1497731	G	T	CLCN7	c.2014-16C>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1497731G>T	(Likely) benign	1 lab	f02102adc5
8:27327347 CHRNA2 G>T	8	27327347	27327347	G	T	CHRNA2	c.225C>A	NM_000742.4	NP_000733.2:p.(Arg75=)	NC_000008.10:g.27327347G>T	(Likely) benign	1 lab	f0210c0c9b
15:40710365 IVD G>A	15	40710365	40710365	G	A	IVD	c.1175G>A	NM_002225.5	NP_002216.3:p.(Arg392His)	NC_000015.9:g.40710365G>A	(Likely) pathogenic	1 lab	f024a4b0de
8:41558095 ANK1 C>A	8	41558095	41558095	C	A	ANK1	c.2461+973G>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41558095C>A	(Likely) benign	1 lab	f02bbcab8a
2:166909596 SCN1A C>T	2	166909596	166909596	C	T	SCN1A	c.603-143G>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909596C>T	(Likely) benign	1 lab	f02caf561e
9:98683550 ERCC6L2 C>A	9	98683550	98683550	C	A	ERCC6L2				NC_000009.11:g.98683550C>A	(Likely) benign	1 lab	f031ee3620
5:168093525 SLIT3 C>T	5	168093525	168093525	C	T	SLIT3	c.4506G>A	NM_003062.3	NP_003053.1:p.(Thr1502=)	NC_000005.9:g.168093525C>T	(Likely) benign	1 lab	f03665cb83
X:154133316 F8 C>CA	X	154133316	154133328	C	CA	F8	c.5374-19dup	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154133328dup	(Likely) benign	1 lab	f038391442
20:60908532 LAMA5 G>A	20	60908532	60908532	G	A	LAMA5	c.3027C>T	NM_005560.4	NP_005551.3:p.(Tyr1009=)	NC_000020.10:g.60908532G>A	(Likely) benign	1 lab	f03af17645
16:70546234 COG4 G>A	16	70546234	70546234	G	A	COG4	c.646C>T	NM_015386.3	NP_056201.2:p.(Leu216=)	NC_000016.9:g.70546234G>A	(Likely) benign	1 lab	dca5d03e9c
15:90171722 KIF7 A>T	15	90171722	90171722	A	T	KIF7	c.3960T>A	NM_198525.3	NP_940927.2:p.(Pro1320=)	NC_000015.9:g.90171722A>T	(Likely) benign	1 lab	f03de8ef03
16:56920330 SLC12A3 C>T	16	56920330	56920330	C	T	SLC12A3	c.1980C>T	NM_000339.3	NP_000330.3:p.(Asp660=)	NC_000016.9:g.56920330C>T	(Likely) benign	1 lab	f042c23917
1:172628449 FASLG G>A	1	172628449	172628449	G	A	FASLG	c.108G>A	NM_000639.1	NP_000630.1:p.(Val36=)	NC_000001.10:g.172628449G>A	(Likely) benign	1 lab	f04624f4f5
12:13761921 GRIN2B ATC>A	12	13761921	13761928	ATC	A	GRIN2B	c.1781-157_1781-156del	NM_000834.5	NP_000825.2:p.?	NC_000012.11:g.13761927_13761928del	(Likely) benign	1 lab	f04816c441
5:79029675 CMYA5 C>G	5	79029675	79029675	C	G	CMYA5	c.5087C>G	NM_153610.5	NP_705838.3:p.(Ala1696Gly)	NC_000005.9:g.79029675C>G	(Likely) benign	1 lab	f04b5e85d2
8:140744376 TRAPPC9 C>T	8	140744376	140744376	C	T	TRAPPC9	c.3125G>A	NM_031466.8	NP_113654.5:p.(Arg1042His)	NC_000008.10:g.140744376C>T	(Likely) benign	1 lab	dca8ff1519
16:1246034 CACNA1H G>A	16	1246034	1246034	G	A	CACNA1H	c.643+11G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1246034G>A	(Likely) benign	1 lab	f05283c630
15:45365618 SORD G>T	15	45365618	45365618	G	T	SORD	c.964G>T	NM_003104.6	NP_003095.2:p.(Val322Phe)	NC_000015.9:g.45365618G>T	(Likely) benign	1 lab	f0529d8091
9:35092660 PIGO C>T	9	35092660	35092660	C	T	PIGO	c.1224G>A	NM_032634.4	NP_116023.2:p.(Gln408=)	NC_000009.11:g.35092660C>T	(Likely) benign	1 lab	f05d9c4c74
20:32332916 ZNF341 G>T	20	32332916	32332916	G	T	ZNF341	c.150G>T	NM_032819.4	NP_116208.3:p.(Glu50Asp)	NC_000020.10:g.32332916G>T	(Likely) benign	1 lab	f05f865587
10:60560685 BICC1 C>T	10	60560685	60560685	C	T	BICC1	c.1894C>T	NM_001080512.3	NP_001073981.1:p.(Arg632Ter)	NC_000010.10:g.60560685C>T	(Likely) pathogenic	1 lab	f0608c9bd0
13:44455428 LACC1 A>G	13	44455428	44455428	A	G	LACC1	c.307A>G	NM_001128303.2	NP_001121775.1:p.(Ile103Val)	NC_000013.10:g.44455428A>G	(Likely) benign	1 lab	f06265c063
11:533629 HRAS G>A	11	533629	533629	G	A	HRAS	c.291-17C>T	NM_176795.4	NP_789765.1:p.?	NC_000011.9:g.533629G>A	(Likely) benign	1 lab	f0660a897d
12:49427309 KMT2D G>A	12	49427309	49427309	G	A	KMT2D	c.11179C>T	NM_003482.3	NP_003473.3:p.(Arg3727Cys)	NC_000012.11:g.49427309G>A	VUS	1 lab	f066362ba3
1:23381623 KDM1A C>T	1	23381623	23381623	C	T	KDM1A	c.852C>T	NM_001009999.3	NP_001009999.1:p.(Phe284=)	NC_000001.10:g.23381623C>T	(Likely) benign	1 lab	f06742db04
10:119768551 RAB11FIP2 C>T	10	119768551	119768551	C	T	RAB11FIP2	c.1497G>A	NM_014904.3	NP_055719.1:p.(Pro499=)	NC_000010.10:g.119768551C>T	VUS	1 lab	f069bf96ad
7:21781653 DNAH11 A>T	7	21781653	21781653	A	T	DNAH11	c.8023A>T	NM_001277115.2	NP_001264044.1:p.(Ile2675Phe)	NC_000007.13:g.21781653A>T	(Likely) benign	1 lab	dcb1c8b0c1
10:60588554 BICC1 C>T	10	60588554	60588554	C	T	BICC1	c.2828C>T	NM_001080512.3	NP_001073981.1:p.(Ser943Leu)	NC_000010.10:g.60588554C>T	(Likely) benign	1 lab	f06c345a5f
12:110034327 MVK T>A	12	110034327	110034327	T	A	MVK	c.1136T>A	NM_000431.2	NP_000422.1:p.(Ile379Asn)	NC_000012.11:g.110034327T>A	(Likely) pathogenic	1 lab	f06cdbcbad
2:198363406 HSPD1 C>T	2	198363406	198363406	C	T	HSPD1	c.167G>A	NM_002156.5	NP_002147.2:p.(Gly56Glu)	NC_000002.11:g.198363406C>T	(Likely) benign	1 lab	f06e1c8397
9:126133269 CRB2 A>T	9	126133269	126133269	A	T	CRB2	c.1927+10A>T	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126133269A>T	(Likely) benign	1 lab	f073a6f99d
11:102991660 DYNC2H1 C>T	11	102991660	102991660	C	T	DYNC2H1	c.1255C>T	NM_001080463.2	NP_001073932.1:p.(Gln419Ter)	NC_000011.9:g.102991660C>T	(Likely) pathogenic	1 lab	f079c477e2
18:48439444 ME2 C>T	18	48439444	48439444	C	T	ME2	c.392+124C>T	NM_002396.5	NP_002387.1:p.?	NC_000018.9:g.48439444C>T	(Likely) benign	1 lab	f07cb2b2d4
4:79351590 FRAS1 A>T	4	79351590	79351590	A	T	FRAS1	c.4969+19A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79351590A>T	(Likely) benign	1 lab	f07ddca8fd
7:27211581 HOXA10 T>C	7	27211581	27211581	T	C	HOXA10	c.1170A>G	NM_018951.4	NP_061824.3:p.(Lys390=)	NC_000007.13:g.27211581T>C	(Likely) benign	1 lab	f08030c57b
1:43394692 SLC2A1 C>G	1	43394692	43394692	C	G	SLC2A1	c.985G>C	NM_006516.3	NP_006507.2:p.(Glu329Gln)	NC_000001.10:g.43394692C>G	(Likely) pathogenic	1 lab	f0807a9698
1:228466862 OBSCN C>T	1	228466862	228466862	C	T	OBSCN	c.7127-14C>T	NM_001098623.2	NP_001092093.2:p.?	NC_000001.10:g.228466862C>T	(Likely) benign	1 lab	f08334dba0
21:27269874 APP A>G	21	27269874	27269874	A	G	APP	c.2064+11T>C	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27269874A>G	(Likely) benign	1 lab	f08682f39f
6:133769302 EYA4 C>A	6	133769302	133769302	C	A	EYA4	c.262C>A	NM_004100.5	NP_004091.3:p.(Pro88Thr)	NC_000006.11:g.133769302C>A	VUS	1 lab	f08afd985b
12:81102342 MYF6 T>A	12	81102342	81102342	T	A	MYF6	c.559T>A	NM_002469.3	NP_002460.1:p.(Trp187Arg)	NC_000012.11:g.81102342T>A	(Likely) benign	1 lab	f08d580b13
6:7559521 DSP G>T	6	7559521	7559521	G	T	DSP	c.485G>T	NM_004415.2	NP_004406.2:p.(Arg162Leu)	NC_000006.11:g.7559521G>T	VUS	1 lab	f0a0da516d
X:18664229 CDKL5 A>G	X	18664229	18664229	A	G	CDKL5	c.2797+19A>G	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18664229A>G	(Likely) benign	1 lab	f0a9cbbf53
12:49443899 KMT2D C>T	12	49443899	49443899	C	T	KMT2D	c.3472G>A	NM_003482.4	NP_003473.3:p.(Glu1158Lys)	NC_000012.11:g.49443899C>T	VUS	1 lab	dcb4e94956
9:131355302 SPTAN1 A>G	9	131355302	131355302	A	G	SPTAN1	c.3196A>G	NM_001130438.2	NP_001123910.1:p.(Met1066Val)	NC_000009.11:g.131355302A>G	(Likely) benign	1 lab	f0af541932
2:200298163 SATB2 C>T	2	200298163	200298163	C	T	SATB2	c.244G>A	NM_015265.4	NP_056080.1:p.(Ala82Thr)	NC_000002.11:g.200298163C>T	VUS	1 lab	dcbd5bb04f
5:150028408 SYNPO T>A	5	150028408	150028408	T	A	SYNPO	c.571T>A	NM_007286.6	NP_009217.3:p.(Ser191Thr)	NC_000005.9:g.150028408T>A	(Likely) benign	1 lab	f0b1b53c29
2:166908418 SCN1A T>G	2	166908418	166908418	T	G	SCN1A	c.775A>C	NM_001165963.3	NP_001159435.1:p.(Ser259Arg)	NC_000002.11:g.166908418T>G	(Likely) pathogenic	1 lab	f0b23a1f28
11:88042479 CTSC T>A	11	88042479	88042479	T	A	CTSC	c.493A>T	NM_001814.4	NP_001805.3:p.(Asn165Tyr)	NC_000011.9:g.88042479T>A	(Likely) benign	1 lab	f0b33d0699
14:24710466 TINF2 G>GCTGAT	14	24710466	24710468	G	GCTGAT	TINF2	c.450_451insATCAG	NM_001099274.3	NP_001092744.1:p.(Leu151IlefsTer26)	NC_000014.8:g.24710467_24710468insTGATC	(Likely) pathogenic	1 lab	f0b54edc37
X:31496394 DMD G>A	X	31496394	31496394	G	A	DMD	c.8397C>T	NM_004010.3	NP_004001.1:p.(Ser2799=)	NC_000023.10:g.31496394G>A	(Likely) benign	1 lab	f0bc8df607
14:103395424 AMN G>C	14	103395424	103395424	G	C	AMN	c.514-34G>C	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103395424G>C	(Likely) benign	1 lab	f0bf409a58
2:32476453 NLRC4 A>G	2	32476453	32476453	A	G	NLRC4	c.480T>C	NM_021209.4	NP_067032.3:p.(Ala160=)	NC_000002.11:g.32476453A>G	(Likely) benign	1 lab	f0c239cbc8
17:41256098 BRCA1 GAA>G	17	41256098	41256102	GAA	G	BRCA1	c.441+39_441+40del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256101_41256102del	(Likely) benign	1 lab	f0c74a63b5
10:112581568 RBM20 A>G	10	112581568	112581568	A	G	RBM20	c.3191A>G	NM_001134363.1	NP_001127835.1:p.(Asp1064Gly)	NC_000010.10:g.112581568A>G	VUS	1 lab	f0ca2a9796
3:4818943 ITPR1 C>T	3	4818943	4818943	C	T	ITPR1	c.5992-5C>T	NM_002222.7	NP_002213.5:p.?	NC_000003.11:g.4818943C>T	(Likely) benign	1 lab	dcc4da826e
6:39866711 DAAM2 G>C	6	39866711	39866711	G	C	DAAM2	c.2677G>C	NM_001201427.2	NP_001188356.1:p.(Val893Leu)	NC_000006.11:g.39866711G>C	(Likely) benign	1 lab	f0cc5d167a
16:1268439 CACNA1H G>A	16	1268439	1268439	G	A	CACNA1H	c.5675G>A	NM_021098.3	NP_066921.2:p.(Arg1892His)	NC_000016.9:g.1268439G>A	(Likely) benign	1 lab	f0cd0ed47e
14:77746112 POMT2 T>C	14	77746112	77746112	T	C	POMT2	c.1891+54A>G	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77746112T>C	(Likely) benign	1 lab	dcc61dde93
18:21444807 LAMA3 A>G	18	21444807	21444807	A	G	LAMA3	c.4643A>G	NM_198129.4	NP_937762.2:p.(Asp1548Gly)	NC_000018.9:g.21444807A>G	(Likely) benign	1 lab	dcc6fb5de9
5:89981642 ADGRV1 A>C	5	89981642	89981642	A	C	ADGRV1	c.6320A>C	NM_032119.4	NP_115495.3:p.(Gln2107Pro)	NC_000005.9:g.89981642A>C	(Likely) benign	1 lab	f0d7f897b0
15:93540756 CHD2 G>A	15	93540756	93540756	G	A	CHD2	c.3885+123G>A	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93540756G>A	(Likely) benign	1 lab	f0d8773c5e
2:47300924 TTC7A C>T	2	47300924	47300924	C	T	TTC7A	c.2439C>T	NM_020458.4	NP_065191.2:p.(His813=)	NC_000002.11:g.47300924C>T	(Likely) benign	1 lab	f0dae82347
13:39450139 FREM2 A>C	13	39450139	39450139	A	C	FREM2	c.8282-20A>C	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39450139A>C	(Likely) benign	1 lab	f0e1ca023c
6:157519989 ARID1B C>T	6	157519989	157519989	C	T	ARID1B	c.4307C>T	NM_001371656.1	NP_001358585.1:p.(Ser1436Leu)	NC_000006.11:g.157519989C>T	VUS	1 lab	dccee2fdfe
11:111782384 CRYAB C>T	11	111782384	111782384	C	T	CRYAB	c.65G>A	NM_001885.3	NP_001876.1:p.(Arg22His)	NC_000011.9:g.111782384C>T	VUS	1 lab	dcd2cc1650
9:35658024 CCDC107 A>AGCTTCACAGAGTAGT	9	35658024	35658039	A	AGCTTCACAGAGTAGT	CCDC107				NC_000009.11:g.35658025_35658039dup	(Likely) pathogenic	1 lab	dcd461054b
1:3739750 CEP104 G>C	1	3739750	3739750	G	C	CEP104	c.2559C>G	NM_014704.3	NP_055519.1:p.(Ser853Arg)	NC_000001.10:g.3739750G>C	(Likely) benign	1 lab	f0e7ed4c13
11:64577381 MEN1 G>GGGGCT	11	64577381	64577393	G	GGGGCT	MEN1	c.196_200dup	NM_130799.2	NP_570711.1:p.(Asp70ProfsTer51)	NC_000011.9:g.64577389_64577393dup	(Likely) pathogenic	1 lab	f0eab28e05
15:42108794 MAPKBP1 G>T	15	42108794	42108794	G	T	MAPKBP1	c.1549G>T	NM_001128608.2	NP_001122080.1:p.(Val517Leu)	NC_000015.9:g.42108794G>T	(Likely) benign	1 lab	f0ed7574f4
1:100346327 AGL G>T	1	100346327	100346327	G	T	AGL	c.1875G>T	NM_000028.2	NP_000019.2:p.(Thr625=)	NC_000001.10:g.100346327G>T	(Likely) benign	1 lab	f0ede43084
10:69921515 MYPN G>A	10	69921515	69921515	G	A	MYPN	c.1483+6G>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69921515G>A	(Likely) benign	1 lab	f0efd2d096
11:63673603 MARK2 C>CTGTG	11	63673603	63673628	C	CTGTG	MARK2	c.1961+39_1961+42dup	NM_001039469.2	NP_001034558.2:p.?	NC_000011.9:g.63673625_63673628dup	(Likely) benign	1 lab	f0f024516f
2:71740389 DYSF C>A	2	71740389	71740389	C	A	DYSF	c.477C>A	NM_001130981.2	NP_001124453.1:p.(Ala159=)	NC_000002.11:g.71740389C>A	(Likely) benign	1 lab	f0f4965fea
14:65250980 SPTB TAGCCACCCTTCATGGGA>T	14	65250980	65251002	TAGCCACCCTTCATGGGA	T	SPTB	c.3970_3986del	NM_001355436.2	NP_001342365.1:p.(Ser1324ArgfsTer13)	NC_000014.8:g.65250986_65251002del	(Likely) pathogenic	1 lab	f0f78ebf12
17:41249184 BRCA1 A>G	17	41249184	41249184	A	G	BRCA1	c.593+77T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249184A>G	(Likely) benign	1 lab	f0f79e5a82
X:10417697 MID1 G>A	X	10417697	10417697	G	A	MID1	c.1715C>T	NM_000381.4	NP_000372.1:p.(Ser572Phe)	NC_000023.10:g.10417697G>A	VUS	1 lab	dcd4bf0bbc
10:13234360 MCM10 C>T	10	13234360	13234360	C	T	MCM10	c.1625C>T	NM_182751.3	NP_877428.1:p.(Ala542Val)	NC_000010.10:g.13234360C>T	(Likely) benign	1 lab	f0fc0cbae3
2:203407052 BMPR2 A>G	2	203407052	203407052	A	G	BMPR2	c.1295A>G	NM_001204.6	NP_001195.2:p.(Tyr432Cys)	NC_000002.11:g.203407052A>G	VUS	1 lab	f0fddc56f7
11:47376831 SPI1 C>T	11	47376831	47376831	C	T	SPI1	c.763G>A	NM_001080547.2	NP_001074016.1:p.(Gly255Ser)	NC_000011.9:g.47376831C>T	(Likely) benign	1 lab	f0ff83e9ca
8:11612573 GATA4 A>G	8	11612573	11612573	A	G	GATA4				NC_000008.10:g.11612573A>G	(Likely) pathogenic	1 lab	f10536dc68
12:88472978 CEP290 C>T	12	88472978	88472978	C	T	CEP290	c.5255G>A	NM_025114.4	NP_079390.3:p.(Arg1752Gln)	NC_000012.11:g.88472978C>T	(Likely) benign	1 lab	f1059e9b17
1:210857174 KCNH1 C>T	1	210857174	210857174	C	T	KCNH1	c.2419G>A	NM_172362.3	NP_758872.1:p.(Gly807Arg)	NC_000001.10:g.210857174C>T	(Likely) benign	1 lab	f10f1c50c1
7:82764399 PCLO G>A	7	82764399	82764399	G	A	PCLO	c.2467C>T	NM_033026.6	NP_149015.2:p.(Arg823Ter)	NC_000007.13:g.82764399G>A	(Likely) pathogenic	1 lab	dcd6e2b265
14:50616843 SOS2 G>C	14	50616843	50616843	G	C	SOS2	c.2267C>G	NM_006939.4	NP_008870.2:p.(Pro756Arg)	NC_000014.8:g.50616843G>C	VUS	1 lab	dcd8bb1d39
7:92077282 GATAD1 G>C	7	92077282	92077282	G	C	GATAD1	c.239G>C	NM_021167.5	NP_066990.3:p.(Gly80Ala)	NC_000007.13:g.92077282G>C	(Likely) benign	1 lab	f11f54f541
5:483387 SLC9A3 G>A	5	483387	483387	G	A	SLC9A3	c.1143C>T	NM_004174.4	NP_004165.2:p.(Tyr381=)	NC_000005.9:g.483387G>A	(Likely) benign	1 lab	f3530bd01c
3:128200681 GATA2 A>G	3	128200681	128200681	A	G	GATA2	c.1124T>C	NM_001145661.1	NP_001139133.1:p.(Leu375Pro)	NC_000003.11:g.128200681A>G	(Likely) pathogenic	1 lab	f11f730d64
12:122079291 ORAI1 C>T	12	122079291	122079291	C	T	ORAI1	c.648C>T	NM_032790.3	NP_116179.2:p.(Pro216=)	NC_000012.11:g.122079291C>T	(Likely) benign	1 lab	f121069e56
9:740769 KANK1 CTTTTTTT>C	9	740769	740787	CTTTTTTT	C	KANK1	c.3554-11_3554-5del	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.740781_740787del	(Likely) benign	1 lab	f126118351
19:17951019 JAK3 C>T	19	17951019	17951019	C	T	JAK3	c.1254+20G>A	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17951019C>T	(Likely) benign	1 lab	f126a0d004
13:39264752 FREM2 A>G	13	39264752	39264752	A	G	FREM2	c.3271A>G	NM_207361.6	NP_997244.4:p.(Ser1091Gly)	NC_000013.10:g.39264752A>G	(Likely) benign	1 lab	f12e94ed39
15:96877842 NR2F2 A>AGCCCT	15	96877842	96877848	A	AGCCCT	NR2F2	c.970+12_970+16dup	NM_021005.4	NP_066285.1:p.?	NC_000015.9:g.96877844_96877848dup	(Likely) benign	1 lab	f12f6e62cd
12:94794708 CEP83 G>GT	12	94794708	94794709	G	GT	CEP83	c.466dup	NM_016122.3	NP_057206.2:p.(Thr156AsnfsTer8)	NC_000012.11:g.94794709dup	(Likely) pathogenic	1 lab	f1369a3c5e
20:60884413 LAMA5 G>A	20	60884413	60884413	G	A	LAMA5	c.11067C>T	NM_005560.4	NP_005551.3:p.(Ala3689=)	NC_000020.10:g.60884413G>A	(Likely) benign	1 lab	f137ae8fde
19:14865775 ADGRE2 G>T	19	14865775	14865775	G	T	ADGRE2	c.1581C>A	NM_013447.4	NP_038475.2:p.(Tyr527Ter)	NC_000019.9:g.14865775G>T	VUS	1 lab	f1385ec6b3
5:89968233 ADGRV1 G>C	5	89968233	89968233	G	C	ADGRV1	c.4753-130G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89968233G>C	(Likely) benign	1 lab	f138651c87
10:99508111 ZFYVE27 G>A	10	99508111	99508111	G	A	ZFYVE27	c.541G>A	NM_001002261.3	NP_001002261.1:p.(Val181Met)	NC_000010.10:g.99508111G>A	(Likely) benign	1 lab	f13b1b7f41
11:111724397 ALG9 G>A	11	111724397	111724397	G	A	ALG9	c.764C>T	NM_024740.2	NP_079016.2:p.(Ser255Leu)	NC_000011.9:g.111724397G>A	(Likely) benign	1 lab	f13b8df194
1:235952019 LYST T>C	1	235952019	235952019	T	C	LYST	c.4670A>G	NM_000081.3	NP_000072.2:p.(Asn1557Ser)	NC_000001.10:g.235952019T>C	(Likely) benign	1 lab	f13bbf35ae
20:30418609 MYLK2 C>G	20	30418609	30418609	C	G	MYLK2	c.1225-13C>G	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30418609C>G	(Likely) benign	1 lab	f148b78b94
16:1261231 CACNA1H C>A	16	1261231	1261231	C	A	CACNA1H	c.4287C>A	NM_021098.3	NP_066921.2:p.(Pro1429=)	NC_000016.9:g.1261231C>A	(Likely) benign	1 lab	f149240c33
16:27752085 KATNIP A>G	16	27752085	27752085	A	G	KATNIP	c.2467A>G	NM_015202.3	NP_056017.3:p.(Lys823Glu)	NC_000016.9:g.27752085A>G	(Likely) benign	1 lab	f14b98ad81
22:32154502 DEPDC5 T>C	22	32154502	32154502	T	C	DEPDC5	c.59-30T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32154502T>C	(Likely) benign	1 lab	f14f280694
15:40584349 PLCB2 C>A	15	40584349	40584349	C	A	PLCB2	c.2442G>T	NM_004573.3	NP_004564.2:p.(Val814=)	NC_000015.9:g.40584349C>A	(Likely) benign	1 lab	f153738266
4:187557986 FAT1 T>C	4	187557986	187557986	T	C	FAT1	c.3725A>G	NM_005245.4	NP_005236.2:p.(Lys1242Arg)	NC_000004.11:g.187557986T>C	(Likely) benign	1 lab	f15435c8f1
16:89348507 ANKRD11 C>T	16	89348507	89348507	C	T	ANKRD11	c.4443G>A	NM_001256182.2	NP_001243111.1:p.(Ala1481=)	NC_000016.9:g.89348507C>T	(Likely) benign	1 lab	f15579525c
1:218520288 TGFB2 C>T	1	218520288	218520288	C	T	TGFB2	c.245C>T	NM_001135599.3	NP_001129071.1:p.(Ala82Val)	NC_000001.10:g.218520288C>T	VUS	1 lab	f15c440251
1:155265095 PKLR T>A	1	155265095	155265095	T	A	PKLR	c.508-2A>T	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155265095T>A	(Likely) pathogenic	1 lab	f15cc105c0
1:29345009 EPB41 C>CTT	1	29345009	29345010	C	CTT	EPB41	c.497+55_497+56insTT	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29345009_29345010insTT	(Likely) benign	1 lab	f15eda4079
15:42116671 MAPKBP1 G>A	15	42116671	42116671	G	A	MAPKBP1	c.4232-11G>A	NM_001128608.2	NP_001122080.1:p.?	NC_000015.9:g.42116671G>A	(Likely) benign	1 lab	f162bddab0
12:6440048 TNFRSF1A A>T	12	6440048	6440048	A	T	TNFRSF1A	c.596T>A	NM_001065.3	NP_001056.1:p.(Ile199Asn)	NC_000012.11:g.6440048A>T	(Likely) pathogenic	1 lab	f166051bbb
6:51887598 PKHD1 C>T	6	51887598	51887598	C	T	PKHD1	c.5380+1G>A	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51887598C>T	(Likely) pathogenic	1 lab	f1662708b5
17:78319136 RNF213 G>A	17	78319136	78319136	G	A	RNF213	c.7001G>A	NM_001256071.3	NP_001243000.2:p.(Ser2334Asn)	NC_000017.10:g.78319136G>A	(Likely) benign	1 lab	dcda91c69c
17:78182057 CARD14 C>T	17	78182057	78182057	C	T	CARD14	c.2928C>T	NM_024110.4	NP_077015.2:p.(Ser976=)	NC_000017.10:g.78182057C>T	(Likely) benign	1 lab	dcdbd40c01
6:10764727 MAK A>G	6	10764727	10764727	A	G	MAK	c.1905T>C	NM_001242957.3	NP_001229886.1:p.(His635=)	NC_000006.11:g.10764727A>G	(Likely) benign	1 lab	dce5079bd9
20:60892479 LAMA5 G>A	20	60892479	60892479	G	A	LAMA5	c.7433C>T	NM_005560.4	NP_005551.3:p.(Ala2478Val)	NC_000020.10:g.60892479G>A	(Likely) benign	1 lab	f168e7f3ea
3:4716028 ITPR1 G>T	3	4716028	4716028	G	T	ITPR1	c.2553+1G>T	NM_001168272.1	NP_001161744.1:p.?	NC_000003.11:g.4716028G>T	(Likely) pathogenic	1 lab	f17c332dbf
11:88045715 CTSC T>C	11	88045715	88045715	T	C	CTSC	c.326A>G	NM_001814.4	NP_001805.3:p.(Glu109Gly)	NC_000011.9:g.88045715T>C	(Likely) benign	1 lab	f1885e5041
4:79204019 FRAS1 C>T	4	79204019	79204019	C	T	FRAS1	c.1153C>T	NM_025074.7	NP_079350.5:p.(Arg385Ter)	NC_000004.11:g.79204019C>T	VUS	1 lab	f18a3759a2
1:204125464 REN T>TCAGACAGA	1	204125464	204125492	T	TCAGACAGA	REN	c.819-25_819-18dup	NM_000537.4	NP_000528.1:p.?	NC_000001.10:g.204125485_204125492dup	(Likely) benign	1 lab	f18bdfe776
2:166221883 SCN2A GTATC>G	2	166221883	166221909	GTATC	G	SCN2A	c.3520+133_3520+136del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166221906_166221909del	(Likely) benign	1 lab	f1943b8ee7
2:3673678 COLEC11 A>G	2	3673678	3673678	A	G	COLEC11	c.189A>G	NM_199235.3	NP_954705.1:p.(Ser63=)	NC_000002.11:g.3673678A>G	(Likely) benign	1 lab	f197cf151e
20:62073754 KCNQ2 C>T	20	62073754	62073754	C	T	KCNQ2	c.816+5G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62073754C>T	(Likely) pathogenic	1 lab	f19932f06b
2:50170891 NRXN1 G>C	2	50170891	50170891	G	C	NRXN1	c.4077C>G	NM_004801.5	NP_004792.1:p.(Pro1359=)	NC_000002.11:g.50170891G>C	(Likely) benign	1 lab	f1995d9266
4:79403747 FRAS1 C>A	4	79403747	79403747	C	A	FRAS1	c.8752+58C>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79403747C>A	(Likely) benign	1 lab	f1a050c8e8
X:32834683 DMD G>T	X	32834683	32834683	G	T	DMD	c.432C>A	NM_004006.2	NP_003997.1:p.(Val144=)	NC_000023.10:g.32834683G>T	(Likely) benign	1 lab	f1a66210d7
X:135112193 SLC9A6 T>G	X	135112193	135112193	T	G	SLC9A6	c.1617-98T>G	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135112193T>G	(Likely) benign	1 lab	f1a6b5575a
1:234744455 IRF2BP2 C>A	1	234744455	234744455	C	A	IRF2BP2	c.786G>T	NM_182972.2	NP_892017.2:p.(Pro262=)	NC_000001.10:g.234744455C>A	(Likely) benign	1 lab	f1a7b25a53
1:196876646 CFHR4 T>C	1	196876646	196876646	T	C	CFHR4	c.799+18T>C	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196876646T>C	(Likely) benign	1 lab	f1aa20527b
1:47882406 FOXE3 G>A	1	47882406	47882406	G	A	FOXE3	c.419G>A	NM_012186.3	NP_036318.1:p.(Gly140Asp)	NC_000001.10:g.47882406G>A	VUS	1 lab	dce58f93a7
9:6644629 GLDC T>C	9	6644629	6644629	T	C	GLDC	c.319A>G	NM_000170.2	NP_000161.2:p.(Met107Val)	NC_000009.11:g.6644629T>C	(Likely) benign	1 lab	f1acdfe68e
2:110902235 NPHP1 TATACTC>T	2	110902235	110902242	TATACTC	T	NPHP1	c.1353-95_1353-90del	NM_001128178.3	NP_001121650.1:p.?	NC_000002.11:g.110902237_110902242del	(Likely) benign	1 lab	f1acf61a0b
1:158596027 SPTA1 C>T	1	158596027	158596027	C	T	SPTA1	c.5834-15G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158596027C>T	(Likely) benign	1 lab	f1aea02188
16:50733783 NOD2 T>G	16	50733783	50733783	T	G	NOD2	c.458T>G	NM_022162.1	NP_071445.1:p.(Leu153Arg)	NC_000016.9:g.50733783T>G	VUS	1 lab	f1b1b5ec42
19:56379128 NLRP4 T>A	19	56379128	56379128	T	A	NLRP4	c.2240T>A	NM_134444.5	NP_604393.2:p.(Leu747Gln)	NC_000019.9:g.56379128T>A	VUS	1 lab	f1b2693595
2:216256446 FN1 G>T	2	216256446	216256446	G	T	FN1	c.4161C>A	NM_212482.2	NP_997647.1:p.(Thr1387=)	NC_000002.11:g.216256446G>T	(Likely) benign	1 lab	f1b4f29623
2:149260091 MBD5 C>T	2	149260091	149260091	C	T	MBD5	c.4337+13C>T	NM_018328.4	NP_060798.2:p.?	NC_000002.11:g.149260091C>T	(Likely) benign	1 lab	f1b5a17f3b
13:52516681 ATP7B T>G	13	52516681	52516681	T	G	ATP7B	c.3253A>C	NM_000053.4	NP_000044.2:p.(Thr1085Pro)	NC_000013.10:g.52516681T>G	VUS	1 lab	f1b6b761bc
16:23382744 SCNN1B C>T	16	23382744	23382744	C	T	SCNN1B	c.1005C>T	NM_000336.3	NP_000327.2:p.(Tyr335=)	NC_000016.9:g.23382744C>T	(Likely) benign	1 lab	f1b7935bc7
4:79455858 FRAS1 T>A	4	79455858	79455858	T	A	FRAS1	c.11092+89T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79455858T>A	(Likely) benign	1 lab	f26f748247
8:41584850 ANK1 A>G	8	41584850	41584850	A	G	ANK1	c.443T>C	NM_001142446.2	NP_001135918.1:p.(Leu148Pro)	NC_000008.10:g.41584850A>G	(Likely) pathogenic	1 lab	f1b8cc7fd4
17:78090323 GAA A>G	17	78090323	78090323	A	G	GAA	c.2190-444A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78090323A>G	(Likely) benign	1 lab	f1b971d8d7
8:68397092 CPA6 T>G	8	68397092	68397092	T	G	CPA6	c.637-68A>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68397092T>G	(Likely) benign	1 lab	f1bacf7b36
22:45683333 UPK3A G>T	22	45683333	45683333	G	T	UPK3A	c.488+1G>T	NM_006953.4	NP_008884.1:p.?	NC_000022.10:g.45683333G>T	VUS	1 lab	f1bb2ee5a9
15:45357410 SORD T>G	15	45357410	45357410	T	G	SORD	c.426-59T>G	NM_003104.6	NP_003095.2:p.?	NC_000015.9:g.45357410T>G	(Likely) benign	1 lab	f1bfe3afc7
10:88477754 LDB3 G>A	10	88477754	88477754	G	A	LDB3	c.1725G>A	NM_001171610.2	NP_001165081.1:p.(Trp575Ter)	NC_000010.10:g.88477754G>A	VUS	1 lab	dcedfa783a
20:60885275 LAMA5 G>A	20	60885275	60885275	G	A	LAMA5	c.10693C>T	NM_005560.4	NP_005551.3:p.(Arg3565Trp)	NC_000020.10:g.60885275G>A	(Likely) benign	1 lab	f1c84edf4f
18:21141335 NPC1 GGAGT>G	18	21141335	21141341	GGAGT	G	NPC1	c.616_619del	NM_000271.5	NP_000262.2:p.(Thr206LeufsTer14)	NC_000018.9:g.21141338_21141341del	(Likely) pathogenic	1 lab	dcef04d9cc
X:77109397 MAGT1 C>T	X	77109397	77109397	C	T	MAGT1	c.922+1G>A	NM_032121.5	NP_115497.4:p.?	NC_000023.10:g.77109397C>T	(Likely) pathogenic	1 lab	f1d7bd909d
11:62398244 GANAB G>A	11	62398244	62398244	G	A	GANAB	c.1281C>T	NM_198335.4	NP_938149.2:p.(Asp427=)	NC_000011.9:g.62398244G>A	(Likely) benign	1 lab	f1dac1abd1
5:151266358 GLRA1 C>T	5	151266358	151266358	C	T	GLRA1	c.185-9G>A	NM_001146040.2	NP_001139512.1:p.?	NC_000005.9:g.151266358C>T	(Likely) benign	1 lab	f1e2513b5b
10:95134589 MYOF G>A	10	95134589	95134589	G	A	MYOF	c.2232C>T	NM_013451.4	NP_038479.1:p.(Ala744=)	NC_000010.10:g.95134589G>A	(Likely) benign	1 lab	f1e658fa81
12:10271062 CLEC7A T>A	12	10271062	10271062	T	A	CLEC7A	c.739A>T	NM_197947.2	NP_922938.1:p.(Met247Leu)	NC_000012.11:g.10271062T>A	(Likely) benign	1 lab	f1e979440b
5:77424003 AP3B1 A>C	5	77424003	77424003	A	C	AP3B1	c.1838-19T>G	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77424003A>C	(Likely) benign	1 lab	f1ec5a5189
2:163167444 IFIH1 C>T	2	163167444	163167444	C	T	IFIH1	c.454-1G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163167444C>T	VUS	1 lab	dcf00700da
15:74637631 CYP11A1 C>T	15	74637631	74637631	C	T	CYP11A1	c.-49-47G>A	NM_001099773.2	NP_001093243.1:p.?	NC_000015.9:g.74637631C>T	(Likely) benign	1 lab	f1f6f7831d
1:179521727 NPHS2 G>A	1	179521727	179521727	G	A	NPHS2	c.873+11C>T	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179521727G>A	(Likely) benign	1 lab	f1f7d036c1
4:79176361 FRAS1 T>C	4	79176361	79176361	T	C	FRAS1	c.470-35T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79176361T>C	(Likely) benign	1 lab	f1fa7c33a3
3:64635470 ADAMTS9 G>A	3	64635470	64635470	G	A	ADAMTS9	c.1464-16C>T	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64635470G>A	(Likely) benign	1 lab	f1fbe7939c
16:3299603 MEFV C>T	16	3299603	3299603	C	T	MEFV	c.1088G>A	NM_000243.2	NP_000234.1:p.(Ser363Asn)	NC_000016.9:g.3299603C>T	VUS	1 lab	f20161c8be
15:44955780 SPG11 C>T	15	44955780	44955780	C	T	SPG11	c.66G>A	NM_025137.4	NP_079413.3:p.(Met22Ile)	NC_000015.9:g.44955780C>T	VUS	1 lab	f20d5122eb
11:36596535 RAG1 C>T	11	36596535	36596535	C	T	RAG1	c.1681C>T	NM_000448.2	NP_000439.1:p.(Arg561Cys)	NC_000011.9:g.36596535C>T	(Likely) pathogenic	1 lab	f20de8fd01
11:32451993 WT1 A>AGG	11	32451993	32451995	A	AGG	WT1	c.647-1829_647-1828insCC	NM_024426.3	NP_077744.3:p.?	NC_000011.9:g.32451994_32451995insGG	(Likely) benign	1 lab	f20e6bc620
2:227920687 COL4A4 C>T	2	227920687	227920687	C	T	COL4A4	c.2690G>A	NM_000092.4	NP_000083.3:p.(Gly897Glu)	NC_000002.11:g.227920687C>T	(Likely) pathogenic	1 lab	f1f00909a9
19:17887044 FCHO1 C>T	19	17887044	17887044	C	T	FCHO1	c.1183-12C>T	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17887044C>T	(Likely) benign	1 lab	f2132dfaf2
X:13778781 OFD1 C>G	X	13778781	13778781	C	G	OFD1	c.2202C>G	NM_003611.3	NP_003602.1:p.(Leu734=)	NC_000023.10:g.13778781C>G	(Likely) benign	1 lab	f21b16b358
9:130588919 ENG C>G	9	130588919	130588919	C	G	ENG	c.393G>C	NM_000118.3	NP_000109.1:p.(Pro131=)	NC_000009.11:g.130588919C>G	(Likely) benign	1 lab	dcf48a54e0
4:79321868 FRAS1 G>A	4	79321868	79321868	G	A	FRAS1	c.3976-20G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79321868G>A	(Likely) benign	1 lab	f22468fd40
1:179520602 NPHS2 C>T	1	179520602	179520602	C	T	NPHS2	c.874-16G>A	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179520602C>T	(Likely) benign	1 lab	f2261ee074
12:6925407 CD4 C>T	12	6925407	6925407	C	T	CD4	c.793C>T	NM_000616.5	NP_000607.1:p.(Arg265Trp)	NC_000012.11:g.6925407C>T	(Likely) benign	1 lab	f226be49a0
9:138662131 KCNT1 C>T	9	138662131	138662131	C	T	KCNT1	c.1620-13C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662131C>T	(Likely) benign	1 lab	f228fca541
12:109537104 UNG T>C	12	109537104	109537104	T	C	UNG	c.408+15T>C	NM_003362.4	NP_003353.1:p.?	NC_000012.11:g.109537104T>C	(Likely) benign	1 lab	f2297458cf
4:39241923 WDR19 A>G	4	39241923	39241923	A	G	WDR19	c.2390A>G	NM_025132.4	NP_079408.3:p.(His797Arg)	NC_000004.11:g.39241923A>G	VUS	1 lab	f22c862b44
8:100160282 VPS13B ATT>A	8	100160282	100160299	ATT	A	VPS13B	c.2013+60_2013+61del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100160298_100160299del	(Likely) benign	1 lab	f23784250a
10:112544099 RBM20 T>C	10	112544099	112544099	T	C	RBM20	c.1338T>C	NM_001134363.1	NP_001127835.1:p.(Asn446=)	NC_000010.10:g.112544099T>C	(Likely) benign	1 lab	f239dd1883
X:120008941 CT47B1 G>T	X	120008941	120008941	G	T	CT47B1	c.584C>A	NM_001145718.1	NP_001139190.1:p.(Ser195Ter)	NC_000023.10:g.120008941G>T	(Likely) pathogenic	1 lab	f23a44f97c
9:6556099 GLDC TC>T	9	6556099	6556101	TC	T	GLDC	c.2202+53del	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6556101del	(Likely) benign	1 lab	f23b2b6866
22:19929250 TXNRD2 A>C	22	19929250	19929250	A	C	TXNRD2	c.77T>G	NM_001282512.3	NP_001269441.1:p.(Val26Gly)	NC_000022.10:g.19929250A>C	(Likely) benign	1 lab	f24195100e
2:136630401 MCM6 G>T	2	136630401	136630401	G	T	MCM6	c.120C>A	NM_005915.6	NP_005906.2:p.(Ser40Arg)	NC_000002.11:g.136630401G>T	(Likely) benign	1 lab	f2431f097e
15:93492462 CHD2 A>G	15	93492462	93492462	A	G	CHD2	c.1502+156A>G	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93492462A>G	(Likely) benign	1 lab	f24bd3a40d
12:103245481 PAH A>C	12	103245481	103245481	A	C	PAH	c.896T>G	NM_000277.3	NP_000268.1:p.(Phe299Cys)	NC_000012.11:g.103245481A>C	(Likely) pathogenic	1 lab	f24dcce758
22:37533795 IL2RB G>T	22	37533795	37533795	G	T	IL2RB	c.389-20C>A	NM_000878.5	NP_000869.1:p.?	NC_000022.10:g.37533795G>T	(Likely) benign	1 lab	f252a990a8
4:79301006 FRAS1 T>G	4	79301006	79301006	T	G	FRAS1	c.3419T>G	NM_025074.7	NP_079350.5:p.(Phe1140Cys)	NC_000004.11:g.79301006T>G	VUS	1 lab	f253f6b8d3
18:57115199 CCBE1 C>T	18	57115199	57115199	C	T	CCBE1	c.775+16G>A	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57115199C>T	(Likely) benign	1 lab	f2549ba52b
7:30701812 CRHR2 C>T	7	30701812	30701812	C	T	CRHR2	c.676G>A	NM_001202481.1	NP_001189410.1:p.(Val226Ile)	NC_000007.13:g.30701812C>T	(Likely) benign	1 lab	f256e93fff
12:103288661 PAH T>A	12	103288661	103288661	T	A	PAH	c.204A>T	NM_000277.3	NP_000268.1:p.(Arg68Ser)	NC_000012.11:g.103288661T>A	(Likely) pathogenic	1 lab	f25d1bfac8
8:133919102 TG C>T	8	133919102	133919102	C	T	TG	c.3804C>T	NM_003235.5	NP_003226.4:p.(Ser1268=)	NC_000008.10:g.133919102C>T	(Likely) benign	1 lab	f25f07ecfa
5:169694057 LCP2 T>C	5	169694057	169694057	T	C	LCP2	c.644A>G	NM_005565.5	NP_005556.1:p.(Asn215Ser)	NC_000005.9:g.169694057T>C	(Likely) benign	1 lab	f2611196d2
19:33878859 PEPD C>T	19	33878859	33878859	C	T	PEPD	c.1281G>A	NM_000285.4	NP_000276.2:p.(Ala427=)	NC_000019.9:g.33878859C>T	(Likely) benign	1 lab	f2637ad121
6:18121951 NHLRC1 A>T	6	18121951	18121951	A	T	NHLRC1	c.887T>A	NM_198586.3	NP_940988.2:p.(Val296Glu)	NC_000006.11:g.18121951A>T	VUS	1 lab	f264c0bbdb
16:3707216 DNASE1 C>T	16	3707216	3707216	C	T	DNASE1	c.578C>T	NM_005223.3	NP_005214.2:p.(Ala193Val)	NC_000016.9:g.3707216C>T	(Likely) pathogenic	1 lab	f26660600a
5:176831185 F12 C>G	5	176831185	176831185	C	G	F12	c.1018+12G>C	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176831185C>G	(Likely) benign	1 lab	f2674ad5e4
1:1459269 ATAD3A C>T	1	1459269	1459269	C	T	ATAD3A	c.1014C>T	NM_001170535.3	NP_001164006.1:p.(Thr338=)	NC_000001.10:g.1459269C>T	(Likely) benign	1 lab	f267662afa
11:108115448 ATM T>A	11	108115448	108115448	T	A	ATM	c.663-67T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115448T>A	(Likely) benign	1 lab	f26ae07f49
6:151738529 RMND1 C>T	6	151738529	151738529	C	T	RMND1	c.1085G>A	NM_017909.4	NP_060379.2:p.(Arg362His)	NC_000006.11:g.151738529C>T	(Likely) benign	1 lab	f26bcd7653
15:41223877 DLL4 C>T	15	41223877	41223877	C	T	DLL4	c.571C>T	NM_019074.4	NP_061947.1:p.(Arg191Cys)	NC_000015.9:g.41223877C>T	VUS	1 lab	f26ea580ee
14:23899079 MYH7 G>A	14	23899079	23899079	G	A	MYH7	c.1043C>T	NM_000257.4	NP_000248.2:p.(Ser348Phe)	NC_000014.8:g.23899079G>A	VUS	1 lab	dd0a0d7c7d
12:66859221 GRIP1 T>C	12	66859221	66859221	T	C	GRIP1	c.725-19A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66859221T>C	(Likely) benign	1 lab	f26eb397f0
16:3304342 MEFV G>A	16	3304342	3304342	G	A	MEFV	c.726C>T	NM_000243.2	NP_000234.1:p.(Ser242=)	NC_000016.9:g.3304342G>A	(Likely) benign	1 lab	f27045909d
2:179517949 TTN G>A	2	179517949	179517949	G	A	TTN	c.38791+16C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517949G>A	(Likely) benign	1 lab	f271f56823
6:143755082 ADAT2 C>G	6	143755082	143755082	C	G	ADAT2	c.97G>C	NM_001286259.1	NP_001273188.1:p.(Val33Leu)	NC_000006.11:g.143755082C>G	(Likely) benign	1 lab	f2727df296
15:101114377 LINS1 T>C	15	101114377	101114377	T	C	LINS1	c.701A>G	NM_001040616.3	NP_001035706.2:p.(Gln234Arg)	NC_000015.9:g.101114377T>C	VUS	1 lab	dd0d96a2c1
X:18616642 CDKL5 A>G	X	18616642	18616642	A	G	CDKL5	c.886A>G	NM_003159.2	NP_003150.1:p.(Thr296Ala)	NC_000023.10:g.18616642A>G	(Likely) benign	1 lab	f2759b710f
15:48776128 FBN1 C>T	15	48776128	48776128	C	T	FBN1	c.3725G>A	NM_000138.4	NP_000129.3:p.(Cys1242Tyr)	NC_000015.9:g.48776128C>T	(Likely) pathogenic	1 lab	f27602008c
2:48026462 MSH6 T>C	2	48026462	48026462	T	C	MSH6	c.1340T>C	NM_000179.3	NP_000170.1:p.(Leu447Pro)	NC_000002.11:g.48026462T>C	VUS	1 lab	dd0eb053cd
18:55315777 ATP8B1 C>T	18	55315777	55315777	C	T	ATP8B1	c.3699G>A	NM_005603.6	NP_005594.2:p.(Pro1233=)	NC_000018.9:g.55315777C>T	(Likely) benign	1 lab	f276e753b2
17:76134636 TMC8 C>T	17	76134636	76134636	C	T	TMC8	c.1665-19C>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76134636C>T	(Likely) benign	1 lab	f27787848e
19:42480738 ATP1A3 C>A	19	42480738	42480738	C	A	ATP1A3	c.1983-20G>T	NM_001256214.2	NP_001243143.1:p.?	NC_000019.9:g.42480738C>A	(Likely) benign	1 lab	f278ca1623
22:36661775 APOL1 A>G	22	36661775	36661775	A	G	APOL1	c.893A>G	NM_003661.4	NP_003652.2:p.(His298Arg)	NC_000022.10:g.36661775A>G	(Likely) benign	1 lab	f27e744043
15:99670400 SYNM A>C	15	99670400	99670400	A	C	SYNM	c.1835A>C	NM_145728.2	NP_663780.2:p.(Glu612Ala)	NC_000015.9:g.99670400A>C	(Likely) benign	1 lab	f27ed9e350
19:54392947 PRKCG G>A	19	54392947	54392947	G	A	PRKCG	c.341G>A	NM_002739.3	NP_002730.1:p.(Cys114Tyr)	NC_000019.9:g.54392947G>A	(Likely) pathogenic	1 lab	f2808a8e24
4:149075755 NR3C2 C>T	4	149075755	149075755	C	T	NR3C2	c.2312G>A	NM_000901.5	NP_000892.2:p.(Arg771His)	NC_000004.11:g.149075755C>T	(Likely) benign	1 lab	f28123bcae
9:138683600 KCNT1 C>T	9	138683600	138683600	C	T	KCNT1	c.3503-43C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138683600C>T	(Likely) benign	1 lab	f281d03dc6
10:127456130 MMP21 T>C	10	127456130	127456130	T	C	MMP21	c.1381A>G	NM_147191.1	NP_671724.1:p.(Lys461Glu)	NC_000010.10:g.127456130T>C	(Likely) benign	1 lab	f282865416
5:153857407 HAND1 C>T	5	153857407	153857407	C	T	HAND1	c.162G>A	NM_004821.3	NP_004812.1:p.(Pro54=)	NC_000005.9:g.153857407C>T	(Likely) benign	1 lab	f28b8b9b0a
10:27459624 MASTL T>C	10	27459624	27459624	T	C	MASTL	c.1736T>C	NM_001172303.3	NP_001165774.1:p.(Met579Thr)	NC_000010.10:g.27459624T>C	(Likely) benign	1 lab	f294b9e313
2:24443897 ITSN2 T>C	2	24443897	24443897	T	C	ITSN2	c.3616A>G	NM_147152.3	NP_671494.2:p.(Ile1206Val)	NC_000002.11:g.24443897T>C	(Likely) benign	1 lab	f297630b95
17:42334864 SLC4A1 C>T	17	42334864	42334864	C	T	SLC4A1	c.1480G>A	NM_000342.4	NP_000333.1:p.(Gly494Ser)	NC_000017.10:g.42334864C>T	(Likely) pathogenic	1 lab	f298af4002
X:153284407 IRAK1 G>A	X	153284407	153284407	G	A	IRAK1	c.540+19C>T	NM_001569.4	NP_001560.2:p.?	NC_000023.10:g.153284407G>A	(Likely) benign	1 lab	f29f04a247
1:155265311 PKLR C>T	1	155265311	155265311	C	T	PKLR	c.331G>A	NM_181871.4	NP_870986.1:p.(Ala111Thr)	NC_000001.10:g.155265311C>T	(Likely) pathogenic	1 lab	f2a3fd69e0
4:15517555 CC2D2A C>A	4	15517555	15517555	C	A	CC2D2A	c.945C>A	NM_001080522.2	NP_001073991.2:p.(Tyr315Ter)	NC_000004.11:g.15517555C>A	(Likely) pathogenic	1 lab	f2a85b6a71
19:48925222 GRIN2D G>A	19	48925222	48925222	G	A	GRIN2D	c.2252+20G>A	NM_000836.2	NP_000827.2:p.?	NC_000019.9:g.48925222G>A	(Likely) benign	1 lab	f2a8668319
2:166851036 SCN1A G>A	2	166851036	166851036	G	A	SCN1A	c.4582-110C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166851036G>A	(Likely) benign	1 lab	f2a8b2e855
10:17169811 CUBN G>A	10	17169811	17169811	G	A	CUBN	c.348+17C>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.17169811G>A	(Likely) benign	1 lab	f2aa2bec59
22:20791943 SCARF2 C>T	22	20791943	20791943	C	T	SCARF2	c.99G>A	NM_153334.7	NP_699165.3:p.(Leu33=)	NC_000022.10:g.20791943C>T	(Likely) benign	1 lab	f2aaad0bcb
1:16383329 CLCNKB T>TC	1	16383329	16383335	T	TC	CLCNKB	c.2017-29dup	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16383335dup	(Likely) benign	1 lab	f2abc03c1c
X:127185291 ACTRT1 C>T	X	127185291	127185291	C	T	ACTRT1	c.895G>A	NM_138289.4	NP_612146.1:p.(Val299Ile)	NC_000023.10:g.127185291C>T	VUS	1 lab	dd133bdcf8
14:69360360 ACTN1 G>A	14	69360360	69360360	G	A	ACTN1	c.855+12C>T	NM_001130004.1	NP_001123476.1:p.?	NC_000014.8:g.69360360G>A	(Likely) benign	1 lab	f2b6790166
1:120479986 NOTCH2 C>T	1	120479986	120479986	C	T	NOTCH2	c.3441G>A	NM_024408.4	NP_077719.2:p.(Glu1147=)	NC_000001.10:g.120479986C>T	(Likely) benign	1 lab	f2b82eb817
17:43347913 MAP3K14 C>T	17	43347913	43347913	C	T	MAP3K14	c.1839G>A	NM_003954.5	NP_003945.2:p.(Pro613=)	NC_000017.10:g.43347913C>T	(Likely) benign	1 lab	f2b9e3b162
16:1505813 CLCN7 C>T	16	1505813	1505813	C	T	CLCN7	c.917-17G>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1505813C>T	(Likely) benign	1 lab	f2bafeae92
X:22132619 PHEX G>A	X	22132619	22132619	G	A	PHEX	c.1217G>A	NM_000444.6	NP_000435.3:p.(Cys406Tyr)	NC_000023.10:g.22132619G>A	(Likely) pathogenic	1 lab	f2c140882e
X:41531040 CASK A>T	X	41531040	41531040	A	T	CASK	c.430-257T>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41531040A>T	(Likely) benign	1 lab	f2cc3283c6
4:15602771 CC2D2A C>CTT	4	15602771	15602772	C	CTT	CC2D2A	c.4675-89_4675-88insTT	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15602771_15602772insTT	(Likely) benign	1 lab	f2cfdf420f
8:41558954 ANK1 T>C	8	41558954	41558954	T	C	ANK1	c.2461+114A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41558954T>C	(Likely) benign	1 lab	f2d5a9883d
15:85188704 WDR73 G>C	15	85188704	85188704	G	C	WDR73				NC_000015.9:g.85188704G>C	(Likely) pathogenic	1 lab	f3a9e28335
20:47990860 KCNB1 C>T	20	47990860	47990860	C	T	KCNB1	c.1237G>A	NM_004975.4	NP_004966.1:p.(Val413Ile)	NC_000020.10:g.47990860C>T	VUS	1 lab	dd163a9266
8:41519504 ANK1 C>T	8	41519504	41519504	C	T	ANK1	c.5479-45G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41519504C>T	(Likely) benign	1 lab	f2de11df4f
2:74595716 DCTN1 G>A	2	74595716	74595716	G	A	DCTN1	c.1854+139C>T	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74595716G>A	(Likely) benign	1 lab	f2de613268
14:74417209 COQ6 C>T	14	74417209	74417209	C	T	COQ6	c.163+11C>T	NM_182476.3	NP_872282.1:p.?	NC_000014.8:g.74417209C>T	(Likely) benign	1 lab	f2e014fb68
16:2167584 PKD1 G>A	16	2167584	2167584	G	A	PKD1	c.1291C>T	NM_001009944.2	NP_001009944.2:p.(Gln431Ter)	NC_000016.9:g.2167584G>A	(Likely) pathogenic	1 lab	f2e319cc4c
14:75513883 MLH3 T>C	14	75513883	75513883	T	C	MLH3	c.2476A>G	NM_001040108.2	NP_001035197.1:p.(Asn826Asp)	NC_000014.8:g.75513883T>C	(Likely) benign	1 lab	dd18be0394
1:200569234 KIF14 T>C	1	200569234	200569234	T	C	KIF14	c.2308A>G	NM_014875.3	NP_055690.1:p.(Lys770Glu)	NC_000001.10:g.200569234T>C	VUS	1 lab	dd1c7e36f9
9:131762055 NUP188 C>T	9	131762055	131762055	C	T	NUP188	c.3814C>T	NM_015354.3	NP_056169.1:p.(Arg1272Trp)	NC_000009.11:g.131762055C>T	VUS	1 lab	dd1f20a6e4
6:33408641 SYNGAP1 G>A	6	33408641	33408641	G	A	SYNGAP1	c.1812G>A	NM_006772.3	NP_006763.2:p.(Ser604=)	NC_000006.11:g.33408641G>A	(Likely) benign	1 lab	f2f3669df2
12:88514026 CEP290 C>T	12	88514026	88514026	C	T	CEP290	c.1387G>A	NM_025114.4	NP_079390.3:p.(Val463Ile)	NC_000012.11:g.88514026C>T	(Likely) benign	1 lab	f2f63b6480
19:6697562 C3 C>T	19	6697562	6697562	C	T	C3	c.2589G>A	NM_000064.2	NP_000055.2:p.(Arg863=)	NC_000019.9:g.6697562C>T	(Likely) benign	1 lab	f2f9ba1742
12:110032946 MVK C>T	12	110032946	110032946	C	T	MVK	c.999C>T	NM_000431.2	NP_000422.1:p.(Gly333=)	NC_000012.11:g.110032946C>T	(Likely) benign	1 lab	f2fb58e0f2
16:28944257 CD19 G>A	16	28944257	28944257	G	A	CD19	c.381G>A	NM_001770.5	NP_001761.3:p.(Ser127=)	NC_000016.9:g.28944257G>A	(Likely) benign	1 lab	f2fd00d932
19:55450956 NLRP7 C>T	19	55450956	55450956	C	T	NLRP7	c.1231G>A	NM_001127255.1	NP_001120727.1:p.(Ala411Thr)	NC_000019.9:g.55450956C>T	(Likely) benign	1 lab	f2fdfeb641
17:54923038 DGKE C>A	17	54923038	54923038	C	A	DGKE	c.625-13C>A	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54923038C>A	(Likely) benign	1 lab	f300b12d19
2:219941190 NHEJ1 G>A	2	219941190	219941190	G	A	NHEJ1	c.826-13C>T	NM_024782.2	NP_079058.1:p.?	NC_000002.11:g.219941190G>A	(Likely) benign	1 lab	f301ce329c
16:81971435 PLCG2 G>C	16	81971435	81971435	G	C	PLCG2	c.3125G>C	NM_002661.3	NP_002652.2:p.(Ser1042Thr)	NC_000016.9:g.81971435G>C	(Likely) benign	1 lab	f305baf265
17:59761130 BRIP1 G>GAA	17	59761130	59761131	G	GAA	BRIP1	c.3276_3277insTT	NM_032043.3	NP_114432.2:p.(Leu1093PhefsTer16)	NC_000017.10:g.59761130_59761131insAA	VUS	1 lab	dd1f50975e
3:168833953 MECOM G>T	3	168833953	168833953	G	T	MECOM	c.1143C>A	NM_001105078.4	NP_001098548.2:p.(Pro381=)	NC_000003.11:g.168833953G>T	(Likely) benign	1 lab	f30de27651
X:119675381 CUL4B G>A	X	119675381	119675381	G	A	CUL4B	c.1497+76C>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119675381G>A	(Likely) benign	1 lab	f31bb691b6
10:71647200 COL13A1 T>C	10	71647200	71647200	T	C	COL13A1	c.487-12T>C	NM_001130103.2	NP_001123575.1:p.?	NC_000010.10:g.71647200T>C	(Likely) benign	1 lab	f31d9560b6
9:140058097 GRIN1 C>T	9	140058097	140058097	C	T	GRIN1	c.2420C>T	NM_007327.4	NP_015566.1:p.(Thr807Ile)	NC_000009.11:g.140058097C>T	(Likely) pathogenic	1 lab	f31fabc80b
2:166166077 SCN2A G>A	2	166166077	166166077	G	A	SCN2A	c.697+124G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166166077G>A	(Likely) benign	1 lab	f323473738
6:7579393 DSP C>T	6	7579393	7579393	C	T	DSP	c.3085-115C>T	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7579393C>T	(Likely) benign	1 lab	f32793037a
14:65289534 SPTB G>A	14	65289534	65289534	G	A	SPTB	c.148+131C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65289534G>A	(Likely) benign	1 lab	f331533847
2:15601408 NBAS C>G	2	15601408	15601408	C	G	NBAS	c.2256G>C	NM_015909.4	NP_056993.2:p.(Leu752=)	NC_000002.11:g.15601408C>G	(Likely) benign	1 lab	f33376d8ea
11:58979579 MPEG1 C>T	11	58979579	58979579	C	T	MPEG1	c.760G>A	NM_001039396.2	NP_001034485.1:p.(Glu254Lys)	NC_000011.9:g.58979579C>T	(Likely) benign	1 lab	f336d5efdf
1:158624570 SPTA1 C>T	1	158624570	158624570	C	T	SPTA1	c.2899-32G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158624570C>T	(Likely) benign	1 lab	f33b7a5613
X:99924378 SRPX2 G>A	X	99924378	99924378	G	A	SRPX2	c.1217+12G>A	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99924378G>A	(Likely) benign	1 lab	f33d630575
20:44050056 PIGT G>A	20	44050056	44050056	G	A	PIGT	c.1067G>A	NM_015937.6	NP_057021.2:p.(Arg356Gln)	NC_000020.10:g.44050056G>A	(Likely) benign	1 lab	f35db5199a
3:39225585 XIRP1 C>T	3	39225585	39225585	C	T	XIRP1	c.5352G>A	NM_194293.4	NP_919269.2:p.(Met1784Ile)	NC_000003.11:g.39225585C>T	(Likely) benign	1 lab	f340be9d81
1:53679066 CPT2 G>A	1	53679066	53679066	G	A	CPT2	c.1776G>A	NM_000098.3	NP_000089.1:p.(Leu592=)	NC_000001.10:g.53679066G>A	(Likely) benign	1 lab	f346ad502c
4:114275400 ANK2 G>A	4	114275400	114275400	G	A	ANK2	c.5626G>A	NM_001148.4	NP_001139.3:p.(Glu1876Lys)	NC_000004.11:g.114275400G>A	(Likely) pathogenic	1 lab	f34da82a62
19:54312825 NLRP12 C>A	19	54312825	54312825	C	A	NLRP12	c.2072+16G>T	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54312825C>A	(Likely) benign	1 lab	f35154b396
16:3293852 MEFV G>A	16	3293852	3293852	G	A	MEFV	c.1792+8C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3293852G>A	(Likely) pathogenic	1 lab	f3550ac73d
21:34947942 SON G>A	21	34947942	34947942	G	A	SON	c.7074G>A	NM_138927.2	NP_620305.2:p.(Gly2358=)	NC_000021.8:g.34947942G>A	(Likely) benign	1 lab	f3559a734e
14:89307242 TTC8 A>G	14	89307242	89307242	A	G	TTC8	c.269A>G	NM_001366535.2	NP_001353464.1:p.(Asn90Ser)	NC_000014.8:g.89307242A>G	(Likely) benign	1 lab	f358830cd3
4:187509861 FAT1 G>C	4	187509861	187509861	G	C	FAT1	c.13652C>G	NM_005245.4	NP_005236.2:p.(Ala4551Gly)	NC_000004.11:g.187509861G>C	(Likely) benign	1 lab	f358b2d9d8
3:14176411 TMEM43 C>T	3	14176411	14176411	C	T	TMEM43	c.705+20C>T	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14176411C>T	(Likely) benign	1 lab	f35a35be38
20:62326874 RTEL1 G>A	20	62326874	62326874	G	A	RTEL1	c.3693G>A	NM_001283009.2	NP_001269938.1:p.(Thr1231=)	NC_000020.10:g.62326874G>A	(Likely) benign	1 lab	f35bb8eb2c
6:51915040 PKHD1 C>A	6	51915040	51915040	C	A	PKHD1	c.2194G>T	NM_138694.4	NP_619639.3:p.(Val732Phe)	NC_000006.11:g.51915040C>A	(Likely) benign	1 lab	f3613fcf69
16:4849726 ROGDI G>C	16	4849726	4849726	G	C	ROGDI	c.393C>G	NM_024589.2	NP_078865.1:p.(Asp131Glu)	NC_000016.9:g.4849726G>C	(Likely) benign	1 lab	f3666114f8
5:228357 SDHA G>A	5	228357	228357	G	A	SDHA	c.535G>A	NM_001294332.2	NP_001281261.1:p.(Glu179Lys)	NC_000005.9:g.228357G>A	VUS	1 lab	dd20e0145a
3:97508895 ARL6 TTGTG>T	3	97508895	97508935	TTGTG	T	ARL6	c.480-1683_480-1680del	NM_001278293.3	NP_001265222.1:p.?	NC_000003.11:g.97508932_97508935del	(Likely) benign	1 lab	f36c1f25f6
9:14789025 FREM1 C>T	9	14789025	14789025	C	T	FREM1	c.4069G>A	NM_144966.5	NP_659403.4:p.(Gly1357Arg)	NC_000009.11:g.14789025C>T	VUS	1 lab	f37863ec4b
1:207940427 CD46 A>G	1	207940427	207940427	A	G	CD46	c.743A>G	NM_002389.4	NP_002380.3:p.(Tyr248Cys)	NC_000001.10:g.207940427A>G	VUS	1 lab	f37a157f60
10:101611318 ABCC2 A>C	10	101611318	101611318	A	C	ABCC2	c.4568A>C	NM_000392.5	NP_000383.2:p.(Gln1523Pro)	NC_000010.10:g.101611318A>C	(Likely) benign	1 lab	f37c4ce920
14:64641655 SYNE2 T>C	14	64641655	64641655	T	C	SYNE2	c.17236-7T>C	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64641655T>C	(Likely) benign	1 lab	f37df36f78
1:205760832 SLC41A1 C>T	1	205760832	205760832	C	T	SLC41A1	c.1371G>A	NM_173854.6	NP_776253.3:p.(Leu457=)	NC_000001.10:g.205760832C>T	(Likely) benign	1 lab	f37e405670
19:1619785 TCF3 G>A	19	1619785	1619785	G	A	TCF3	c.1161C>T	NM_003200.5	NP_003191.1:p.(His387=)	NC_000019.9:g.1619785G>A	(Likely) benign	1 lab	f38398eb52
X:31241225 DMD A>G	X	31241225	31241225	A	G	DMD	c.9300T>C	NM_004006.2	NP_003997.1:p.(Asn3100=)	NC_000023.10:g.31241225A>G	(Likely) benign	1 lab	f384627bab
8:41585384 ANK1 T>G	8	41585384	41585384	T	G	ANK1	c.426+42A>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41585384T>G	(Likely) benign	1 lab	f3852ef585
9:130588788 ENG C>A	9	130588788	130588788	C	A	ENG	c.523+1G>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130588788C>A	(Likely) pathogenic	1 lab	f38610ec56
11:47354903 MYBPC3 G>C	11	47354903	47354903	G	C	MYBPC3	c.3191-19C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354903G>C	VUS	1 lab	f3876053f0
1:247587724 NLRP3 C>T	1	247587724	247587724	C	T	NLRP3	c.973C>T	NM_001243133.2	NP_001230062.1:p.(Arg325Trp)	NC_000001.10:g.247587724C>T	(Likely) pathogenic	1 lab	f38a5446e2
18:47398568 MYO5B G>A	18	47398568	47398568	G	A	MYO5B	c.3572C>T	NM_001080467.3	NP_001073936.1:p.(Pro1191Leu)	NC_000018.9:g.47398568G>A	(Likely) benign	1 lab	f38a7eeec3
12:122260417 SETD1B C>T	12	122260417	122260417	C	T	SETD1B	c.3932C>T	NM_001353345.1	NP_001340274.1:p.(Pro1311Leu)	NC_000012.11:g.122260417C>T	(Likely) benign	1 lab	f38b76221d
2:179456487 TTN CCTT>C	2	179456487	179456496	CCTT	C	TTN	c.60056_60058del	NM_001267550.2	NP_001254479.2:p.(Glu20019del)	NC_000002.11:g.179456494_179456496del	VUS	1 lab	dd22b7cda6
7:2578307 BRAT1 C>T	7	2578307	2578307	C	T	BRAT1	c.2042G>A	NM_001350626.2	NP_001337555.1:p.(Arg681Gln)	NC_000007.13:g.2578307C>T	(Likely) benign	1 lab	f3999ad9d5
5:1268709 TERT G>A	5	1268709	1268709	G	A	TERT	c.2508C>T	NM_198253.2	NP_937983.2:p.(Ile836=)	NC_000005.9:g.1268709G>A	(Likely) benign	1 lab	f39a62d705
19:14854231 ADGRE2 C>T	19	14854231	14854231	C	T	ADGRE2	c.2463+1G>A	NM_013447.4	NP_038475.2:p.?	NC_000019.9:g.14854231C>T	VUS	1 lab	f39cff2cf9
2:202093655 CASP10 G>C	2	202093655	202093655	G	C	CASP10	c.1416-1G>C	NM_032974.5	NP_116756.2:p.?	NC_000002.11:g.202093655G>C	VUS	1 lab	dd23cf7a06
X:25025287 ARX G>A	X	25025287	25025287	G	A	ARX	c.1389C>T	NM_139058.3	NP_620689.1:p.(Ser463=)	NC_000023.10:g.25025287G>A	(Likely) benign	1 lab	f3a5e3c3f9
8:144997854 PLEC G>A	8	144997854	144997854	G	A	PLEC	c.6654C>T	NM_201380.4	NP_958782.1:p.(Gly2218=)	NC_000008.10:g.144997854G>A	VUS	1 lab	f3a7d8a6c5
14:103390274 AMN G>A	14	103390274	103390274	G	A	AMN	c.165G>A	NM_030943.3	NP_112205.2:p.(Met55Ile)	NC_000014.8:g.103390274G>A	(Likely) benign	1 lab	f3aa209214
8:41574736 ANK1 A>C	8	41574736	41574736	A	C	ANK1	c.1306-167T>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41574736A>C	(Likely) benign	1 lab	f3b458ad23
10:90773114 FAS A>G	10	90773114	90773114	A	G	FAS	c.666A>G	NM_000043.4	NP_000034.1:p.(Ile222Met)	NC_000010.10:g.90773114A>G	(Likely) benign	1 lab	f3b52a38c3
12:56563471 SMARCC2 C>A	12	56563471	56563471	C	A	SMARCC2	c.2557G>T	NM_001330288.2	NP_001317217.1:p.(Glu853Ter)	NC_000012.11:g.56563471C>A	(Likely) pathogenic	1 lab	f3b5d4b0ff
17:78169018 CARD14 C>T	17	78169018	78169018	C	T	CARD14	c.1385C>T	NM_024110.4	NP_077015.2:p.(Thr462Met)	NC_000017.10:g.78169018C>T	(Likely) benign	1 lab	f3b61fd409
16:3293463 MEFV C>T	16	3293463	3293463	C	T	MEFV	c.2024G>A	NM_000243.2	NP_000234.1:p.(Ser675Asn)	NC_000016.9:g.3293463C>T	(Likely) pathogenic	1 lab	f3b6346901
16:89347797 ANKRD11 A>C	16	89347797	89347797	A	C	ANKRD11	c.5153T>G	NM_013275.6	NP_037407.4:p.(Val1718Gly)	NC_000016.9:g.89347797A>C	VUS	1 lab	dd2a76d035
10:78832844 KCNMA1 C>T	10	78832844	78832844	C	T	KCNMA1	c.1749+11G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78832844C>T	(Likely) benign	1 lab	f3bafd99b1
X:32486726 DMD T>C	X	32486726	32486726	T	C	DMD	c.3051A>G	NM_004006.2	NP_003997.1:p.(Lys1017=)	NC_000023.10:g.32486726T>C	(Likely) benign	1 lab	f3bbc9821c
2:179641335 TTN ACGGAGC>A	2	179641335	179641342	ACGGAGC	A	TTN	c.5250_5255del	NM_001267550.2	NP_001254479.2:p.(Arg1750_Arg1752delinsSer)	NC_000002.11:g.179641337_179641342del	VUS	1 lab	dd2d63297a
13:39420561 FREM2 A>G	13	39420561	39420561	A	G	FREM2	c.6020-149A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39420561A>G	(Likely) benign	1 lab	f3c5efda90
16:3705910 DNASE1 G>A	16	3705910	3705910	G	A	DNASE1	c.208G>A	NM_005223.4	NP_005214.2:p.(Val70Met)	NC_000016.9:g.3705910G>A	(Likely) benign	1 lab	dd2dee55b6
11:125769564 HYLS1 A>C	11	125769564	125769564	A	C	HYLS1	c.301A>C	NM_145014.2	NP_659451.1:p.(Arg101=)	NC_000011.9:g.125769564A>C	(Likely) benign	1 lab	f3c734775e
17:41256100 BRCA1 A>AAAG	17	41256100	41256123	A	AAAG	BRCA1	c.441+36_441+38dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256121_41256123dup	(Likely) benign	1 lab	f3cca3557b
1:229637797 NUP133 C>T	1	229637797	229637797	C	T	NUP133	c.354G>A	NM_018230.3	NP_060700.2:p.(Val118=)	NC_000001.10:g.229637797C>T	(Likely) benign	1 lab	f3cfae5953
3:126746936 PLXNA1 G>A	3	126746936	126746936	G	A	PLXNA1	c.4509+7G>A	NM_032242.3	NP_115618.3:p.?	NC_000003.11:g.126746936G>A	(Likely) benign	1 lab	f3d46a1aca
1:57351704 C8A G>T	1	57351704	57351704	G	T	C8A	c.960G>T	NM_000562.2	NP_000553.1:p.(Glu320Asp)	NC_000001.10:g.57351704G>T	(Likely) benign	1 lab	f3dace3b32
17:42337049 SLC4A1 A>AC	17	42337049	42337055	A	AC	SLC4A1	c.610-101dup	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42337055dup	(Likely) benign	1 lab	f3dbf26e1c
12:49444413 KMT2D T>C	12	49444413	49444413	T	C	KMT2D	c.2958A>G	NM_003482.3	NP_003473.3:p.(Pro986=)	NC_000012.11:g.49444413T>C	(Likely) benign	1 lab	f3dd198cdf
17:42152668 G6PC3 A>T	17	42152668	42152668	A	T	G6PC3	c.536-10A>T	NM_138387.3	NP_612396.1:p.?	NC_000017.10:g.42152668A>T	(Likely) benign	1 lab	f3e4bf12fc
3:64599074 ADAMTS9 G>A	3	64599074	64599074	G	A	ADAMTS9	c.3301C>T	NM_182920.2	NP_891550.1:p.(Gln1101Ter)	NC_000003.11:g.64599074G>A	(Likely) pathogenic	1 lab	f3eef46b4e
11:108236234 ATM G>C	11	108236234	108236234	G	C	ATM	c.9170G>C	NM_000051.3	NP_000042.3:p.(Ter3057SerextTer29)	NC_000011.9:g.108236234G>C	(Likely) pathogenic	1 lab	f3f891edc8
20:62076082 KCNQ2 C>T	20	62076082	62076082	C	T	KCNQ2	c.620G>A	NM_172107.4	NP_742105.1:p.(Arg207Gln)	NC_000020.10:g.62076082C>T	(Likely) pathogenic	1 lab	f400742d27
21:45655381 ICOSLG C>A	21	45655381	45655381	C	A	ICOSLG	c.471G>T	NM_015259.6	NP_056074.1:p.(Thr157=)	NC_000021.8:g.45655381C>A	(Likely) benign	1 lab	f40301c7cd
17:41062912 G6PC T>A	17	41062912	41062912	T	A	G6PC				NC_000017.10:g.41062912T>A	(Likely) benign	1 lab	f40940abbf
16:3304579 MEFV C>A	16	3304579	3304579	C	A	MEFV	c.489G>T	NM_000243.2	NP_000234.1:p.(Glu163Asp)	NC_000016.9:g.3304579C>A	VUS	1 lab	f40c9aea2f
7:94259029 SGCE A>G	7	94259029	94259029	A	G	SGCE	c.232+2T>C	NM_003919.3	NP_003910.1:p.?	NC_000007.13:g.94259029A>G	(Likely) pathogenic	1 lab	dd2f34cabc
1:207642593 CR2 A>G	1	207642593	207642593	A	G	CR2	c.817+16A>G	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207642593A>G	(Likely) benign	1 lab	f411a396a2
1:16378296 CLCNKB A>C	1	16378296	16378296	A	C	CLCNKB	c.1389A>C	NM_000085.4	NP_000076.2:p.(Pro463=)	NC_000001.10:g.16378296A>C	(Likely) benign	1 lab	f413f54df0
5:90052477 ADGRV1 A>G	5	90052477	90052477	A	G	ADGRV1	c.11757+30A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90052477A>G	(Likely) benign	1 lab	f418473408
19:12920949 RNASEH2A G>A	19	12920949	12920949	G	A	RNASEH2A	c.476G>A	NM_006397.2	NP_006388.2:p.(Gly159Glu)	NC_000019.9:g.12920949G>A	(Likely) benign	1 lab	f41af92089
1:207498949 CD55 A>G	1	207498949	207498949	A	G	CD55	c.479-18A>G	NM_000574.3	NP_000565.1:p.?	NC_000001.10:g.207498949A>G	(Likely) benign	1 lab	f41d7f3822
2:166898940 SCN1A A>T	2	166898940	166898940	A	T	SCN1A	c.2044-6T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166898940A>T	(Likely) benign	1 lab	f422d1e655
21:34775938 IFNGR2 G>A	21	34775938	34775938	G	A	IFNGR2	c.73+16G>A	NM_005534.3	NP_005525.2:p.?	NC_000021.8:g.34775938G>A	(Likely) benign	1 lab	f42ab6a5e2
17:8138517 CTC1 A>G	17	8138517	8138517	A	G	CTC1	c.1293T>C	NM_025099.6	NP_079375.3:p.(Leu431=)	NC_000017.10:g.8138517A>G	(Likely) benign	1 lab	f42baf1f23
17:42985443 GFAP G>A	17	42985443	42985443	G	A	GFAP	c.1246C>T	NM_002055.5	NP_002046.1:p.(Arg416Trp)	NC_000017.10:g.42985443G>A	(Likely) pathogenic	1 lab	dd302a0a1c
17:40467766 STAT3 C>T	17	40467766	40467766	C	T	STAT3	c.2310G>A	NM_139276.2	NP_644805.1:p.(Met770Ile)	NC_000017.10:g.40467766C>T	(Likely) benign	1 lab	f42fd8113e
16:3823841 CREBBP G>A	16	3823841	3823841	G	A	CREBBP	c.2374C>T	NM_004380.3	NP_004371.2:p.(Gln792Ter)	NC_000016.9:g.3823841G>A	(Likely) pathogenic	1 lab	f4388ad840
9:136321795 ADAMTS13 G>A	9	136321795	136321795	G	A	ADAMTS13	c.3846G>A	NM_139025.4	NP_620594.1:p.(Val1282=)	NC_000009.11:g.136321795G>A	(Likely) benign	1 lab	f4393dc663
13:52513227 ATP7B G>A	13	52513227	52513227	G	A	ATP7B	c.3659C>T	NM_000053.4	NP_000044.2:p.(Thr1220Met)	NC_000013.10:g.52513227G>A	(Likely) pathogenic	1 lab	f43a0db3b3
3:77542380 ROBO2 AT>A	3	77542380	77542390	AT	A	ROBO2	c.668-5del	NM_001395656.1	NP_001382585.1:p.?	NC_000003.11:g.77542390del	(Likely) benign	1 lab	f43a7400a4
19:7710205 STXBP2 C>T	19	7710205	7710205	C	T	STXBP2	c.1389+13C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7710205C>T	(Likely) benign	1 lab	f43a7452c8
7:79764599 GNAI1 G>A	7	79764599	79764599	G	A	GNAI1	c.118+5G>A	NM_002069.6	NP_002060.4:p.?	NC_000007.13:g.79764599G>A	(Likely) benign	1 lab	f43cc96ff2
11:63986715 FERMT3 C>G	11	63986715	63986715	C	G	FERMT3	c.787-8C>G	NM_031471.6	NP_113659.3:p.?	NC_000011.9:g.63986715C>G	(Likely) benign	1 lab	f444fba5da
2:169842795 ABCB11 C>T	2	169842795	169842795	C	T	ABCB11	c.909-1G>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169842795C>T	(Likely) pathogenic	1 lab	f447a24de6
1:230846324 AGT G>A	1	230846324	230846324	G	A	AGT	c.273C>T	NM_000029.4	NP_000020.1:p.(Val91=)	NC_000001.10:g.230846324G>A	(Likely) benign	1 lab	f44812b101
8:17796383 PCM1 C>T	8	17796383	17796383	C	T	PCM1	c.477C>T	NM_006197.4	NP_006188.4:p.(Asn159=)	NC_000008.10:g.17796383C>T	(Likely) benign	1 lab	dd72b99f60
2:227979484 COL4A4 A>T	2	227979484	227979484	A	T	COL4A4	c.490-72T>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227979484A>T	(Likely) benign	1 lab	f44f506881
22:40697176 TNRC6B T>TGCA	22	40697176	40697201	T	TGCA	TNRC6B	c.3982_3984dup	NM_001162501.2	NP_001155973.1:p.(Gln1328dup)	NC_000022.10:g.40697199_40697201dup	VUS	1 lab	dd3694926d
2:166179766 SCN2A A>T	2	166179766	166179766	A	T	SCN2A	c.1772A>T	NM_021007.3	NP_066287.2:p.(Asn591Ile)	NC_000002.11:g.166179766A>T	VUS	1 lab	dd392316c7
17:43531115 PLEKHM1 A>G	17	43531115	43531115	A	G	PLEKHM1	c.2103T>C	NM_014798.3	NP_055613.1:p.(Tyr701=)	NC_000017.10:g.43531115A>G	(Likely) benign	1 lab	f45db3b6db
5:138657639 MATR3 G>T	5	138657639	138657639	G	T	MATR3	c.1655G>T	NM_199189.2	NP_954659.1:p.(Cys552Phe)	NC_000005.9:g.138657639G>T	(Likely) benign	1 lab	f45ef5c9e9
16:8895699 PMM2 A>T	16	8895699	8895699	A	T	PMM2	c.110A>T	NM_000303.3	NP_000294.1:p.(Gln37Leu)	NC_000016.9:g.8895699A>T	(Likely) benign	1 lab	f4644b578c
12:50347951 AQP2 C>T	12	50347951	50347951	C	T	AQP2	c.374C>T	NM_000486.5	NP_000477.1:p.(Thr125Met)	NC_000012.11:g.50347951C>T	(Likely) pathogenic	1 lab	f46c1ea42c
2:145146503 ZEB2 G>GA	2	145146503	145146513	G	GA	ZEB2	c.*514dup	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145146513dup	(Likely) benign	1 lab	f46c8ac845
2:73786123 ALMS1 A>G	2	73786123	73786123	A	G	ALMS1	c.10241A>G	NM_015120.4	NP_055935.4:p.(Glu3414Gly)	NC_000002.11:g.73786123A>G	(Likely) benign	1 lab	f4738bdbb8
17:1631762 WDR81 G>A	17	1631762	1631762	G	A	WDR81	c.3509G>A	NM_001163809.2	NP_001157281.1:p.(Gly1170Glu)	NC_000017.10:g.1631762G>A	(Likely) benign	1 lab	f4738c3578
8:143996122 CYP11B2 G>A	8	143996122	143996122	G	A	CYP11B2	c.798C>T	NM_000498.3	NP_000489.3:p.(Tyr266=)	NC_000008.10:g.143996122G>A	(Likely) benign	1 lab	f473c46d22
7:147815099 CNTNAP2 A>C	7	147815099	147815099	A	C	CNTNAP2	c.2384-111A>C	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147815099A>C	(Likely) benign	1 lab	f473d45d45
10:96336487 HELLS G>C	10	96336487	96336487	G	C	HELLS	c.957G>C	NM_018063.5	NP_060533.2:p.(Arg319=)	NC_000010.10:g.96336487G>C	(Likely) benign	1 lab	f47550ed9d
7:148106475 CNTNAP2 C>CTT	7	148106475	148106477	C	CTT	CNTNAP2	c.3716-7_3716-6insTT	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148106476_148106477insTT	(Likely) benign	1 lab	f47743483c
13:103292745 TPP2 T>A	13	103292745	103292745	T	A	TPP2	c.2020+19T>A	NM_003291.4	NP_003282.2:p.?	NC_000013.10:g.103292745T>A	(Likely) benign	1 lab	f47ade5fe7
16:89346124 ANKRD11 G>A	16	89346124	89346124	G	A	ANKRD11	c.6826C>T	NM_001256182.2	NP_001243111.1:p.(Pro2276Ser)	NC_000016.9:g.89346124G>A	(Likely) benign	1 lab	f47bc1b690
4:79340016 FRAS1 A>AT	4	79340016	79340025	A	AT	FRAS1	c.4426-78dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79340025dup	(Likely) benign	1 lab	f47be97b97
12:12022779 ETV6 C>T	12	12022779	12022779	C	T	ETV6	c.885C>T	NM_001987.4	NP_001978.1:p.(Asp295=)	NC_000012.11:g.12022779C>T	(Likely) benign	1 lab	f47e2bcad0
8:100160282 VPS13B AT>A	8	100160282	100160299	AT	A	VPS13B	c.2013+61del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100160299del	(Likely) benign	1 lab	f47f02d535
1:237013724 MTR T>C	1	237013724	237013724	T	C	MTR	c.1596T>C	NM_000254.2	NP_000245.2:p.(Asn532=)	NC_000001.10:g.237013724T>C	(Likely) benign	1 lab	f4801e301d
20:33050107 ITCH G>A	20	33050107	33050107	G	A	ITCH	c.1547+81G>A	NM_001257137.3	NP_001244066.1:p.?	NC_000020.10:g.33050107G>A	(Likely) benign	1 lab	f4817439f8
4:156617994 GUCY1A1 G>A	4	156617994	156617994	G	A	GUCY1A1	c.-26G>A	NM_000856.6	NP_000847.2:p.?	NC_000004.11:g.156617994G>A	(Likely) benign	1 lab	f63ff429b4
5:137013350 KLHL3 C>CA	5	137013350	137013364	C	CA	KLHL3	c.527-8dup	NM_017415.3	NP_059111.2:p.?	NC_000005.9:g.137013364dup	(Likely) benign	1 lab	f4842c63ac
19:13387837 CACNA1A TA>T	19	13387837	13387848	TA	T	CACNA1A	c.3882+45del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13387848del	(Likely) benign	1 lab	f48440d83e
17:45387528 ITGB3 G>A	17	45387528	45387528	G	A	ITGB3	c.2325G>A	NM_000212.2	NP_000203.2:p.(Glu775=)	NC_000017.10:g.45387528G>A	(Likely) benign	1 lab	f486c728d8
13:32929038 BRCA2 A>C	13	32929038	32929038	A	C	BRCA2	c.7048A>C	NM_000059.4	NP_000050.3:p.(Thr2350Pro)	NC_000013.10:g.32929038A>C	(Likely) benign	1 lab	dd39ae3d06
22:38379661 SOX10 G>C	22	38379661	38379661	G	C	SOX10	c.131C>G	NM_006941.3	NP_008872.1:p.(Ala44Gly)	NC_000022.10:g.38379661G>C	(Likely) benign	1 lab	f489d8edbe
11:5246850 HBB G>A	11	5246850	5246850	G	A	HBB	c.422C>T	NM_000518.5	NP_000509.1:p.(Ala141Val)	NC_000011.9:g.5246850G>A	(Likely) pathogenic	1 lab	f4914b7193
2:47643534 MSH2 C>T	2	47643534	47643534	C	T	MSH2	c.1042C>T	NM_000251.3	NP_000242.1:p.(Gln348Ter)	NC_000002.11:g.47643534C>T	(Likely) pathogenic	1 lab	dd3f043ded
X:22196467 PHEX G>A	X	22196467	22196467	G	A	PHEX	c.1560G>A	NM_000444.6	NP_000435.3:p.(Trp520Ter)	NC_000023.10:g.22196467G>A	(Likely) pathogenic	1 lab	f494257f60
1:204159761 KISS1 G>C	1	204159761	204159761	G	C	KISS1	c.268C>G	NM_002256.4	NP_002247.3:p.(His90Asp)	NC_000001.10:g.204159761G>C	(Likely) benign	1 lab	f496536847
12:69113390 NUP107 T>C	12	69113390	69113390	T	C	NUP107	c.1207T>C	NM_020401.4	NP_065134.1:p.(Tyr403His)	NC_000012.11:g.69113390T>C	(Likely) benign	1 lab	f4990da3fe
6:32064955 TNXB A>G	6	32064955	32064955	A	G	TNXB	c.675T>C	NM_019105.8	NP_061978.6:p.(Arg225=)	NC_000006.11:g.32064955A>G	(Likely) benign	1 lab	f49cf4ac58
16:81925240 PLCG2 C>T	16	81925240	81925240	C	T	PLCG2	c.986+45C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81925240C>T	(Likely) benign	1 lab	f6b7d36388
1:207959122 CD46 CTTTT>C	1	207959122	207959136	CTTTT	C	CD46	c.1082+106_1082+109del	NM_172351.3	NP_758861.1:p.?	NC_000001.10:g.207959133_207959136del	(Likely) benign	1 lab	f49e628f24
9:93650017 SYK T>C	9	93650017	93650017	T	C	SYK	c.1582-14T>C	NM_003177.7	NP_003168.2:p.?	NC_000009.11:g.93650017T>C	(Likely) benign	1 lab	f4a35e8a8a
19:50367687 PNKP G>A	19	50367687	50367687	G	A	PNKP	c.499-27C>T	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50367687G>A	(Likely) benign	1 lab	f4a53f6f8c
3:195785256 TFRC G>A	3	195785256	195785256	G	A	TFRC	c.1596-20C>T	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195785256G>A	(Likely) benign	1 lab	f4b0f9a01d
4:9922128 SLC2A9 C>T	4	9922128	9922128	C	T	SLC2A9	c.883G>A	NM_020041.3	NP_064425.2:p.(Val295Met)	NC_000004.11:g.9922128C>T	(Likely) benign	1 lab	f4c13e2c21
14:65289609 SPTB C>T	14	65289609	65289609	C	T	SPTB	c.148+56G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65289609C>T	(Likely) benign	1 lab	f4d36d6fc6
17:48151647 ITGA3 G>A	17	48151647	48151647	G	A	ITGA3	c.1382+3G>A	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48151647G>A	(Likely) benign	1 lab	f4d65e3716
12:98926748 TMPO T>G	12	98926748	98926748	T	G	TMPO	c.713T>G	NM_003276.2	NP_003267.1:p.(Leu238Arg)	NC_000012.11:g.98926748T>G	(Likely) benign	1 lab	f4d912122b
1:1961564 GABRD C>T	1	1961564	1961564	C	T	GABRD	c.1202C>T	NM_000815.5	NP_000806.2:p.(Thr401Met)	NC_000001.10:g.1961564C>T	(Likely) benign	1 lab	f4db6a9365
2:32477388 NLRC4 T>C	2	32477388	32477388	T	C	NLRC4	c.262+100A>G	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32477388T>C	(Likely) benign	1 lab	f4ddaa525c
13:39381301 FREM2 C>A	13	39381301	39381301	C	A	FREM2	c.6019+22356C>A	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39381301C>A	(Likely) benign	1 lab	f4e806e053
10:104816735 CNNM2 T>C	10	104816735	104816735	T	C	CNNM2	c.2073+14T>C	NM_017649.5	NP_060119.3:p.?	NC_000010.10:g.104816735T>C	(Likely) benign	1 lab	f4f0f67a6f
6:32065012 TNXB G>A	6	32065012	32065012	G	A	TNXB	c.618C>T	NM_019105.8	NP_061978.6:p.(Pro206=)	NC_000006.11:g.32065012G>A	(Likely) benign	1 lab	f4f5fa2f8f
2:179407675 TTN C>T	2	179407675	179407675	C	T	TTN	c.70086G>A	NM_133432.3	NP_597676.3:p.(Val23362=)	NC_000002.11:g.179407675C>T	(Likely) benign	1 lab	f4faeccba4
20:33049894 ITCH G>T	20	33049894	33049894	G	T	ITCH				NC_000020.10:g.33049894G>T	(Likely) benign	1 lab	f4fe729c3e
6:30996907 MUC22 A>T	6	30996907	30996907	A	T	MUC22	c.3699A>T	NM_001198815.1	NP_001185744.1:p.(Ser1233=)	NC_000006.11:g.30996907A>T	(Likely) benign	1 lab	f5016ce732
12:6443010 TNFRSF1A C>A	12	6443010	6443010	C	A	TNFRSF1A	c.215G>T	NM_001065.3	NP_001056.1:p.(Cys72Phe)	NC_000012.11:g.6443010C>A	(Likely) pathogenic	1 lab	f50ced183a
6:152651539 SYNE1 T>C	6	152651539	152651539	T	C	SYNE1	c.14281A>G	NM_182961.4	NP_892006.3:p.(Arg4761Gly)	NC_000006.11:g.152651539T>C	(Likely) benign	1 lab	f513204402
5:77311339 AP3B1 ACAG>A	5	77311339	77311345	ACAG	A	AP3B1	c.3023_3025del	NM_003664.5	NP_003655.3:p.(Ala1008del)	NC_000005.9:g.77311343_77311345del	(Likely) benign	1 lab	f517121dd2
10:117853226 GFRA1 G>A	10	117853226	117853226	G	A	GFRA1	c.1002C>T	NM_005264.6	NP_005255.1:p.(Asp334=)	NC_000010.10:g.117853226G>A	(Likely) benign	1 lab	f517d7c3c2
X:153171270 AVPR2 C>T	X	153171270	153171270	C	T	AVPR2	c.310C>T	NM_000054.6	NP_000045.1:p.(Arg104Cys)	NC_000023.10:g.153171270C>T	(Likely) pathogenic	1 lab	f51b2f0ee9
16:67688610 CARMIL2 T>TG	16	67688610	67688616	T	TG	CARMIL2	c.3582+21dup	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67688616dup	(Likely) benign	1 lab	f5204ecf54
9:36222649 GNE C>G	9	36222649	36222649	C	G	GNE	c.1633+125G>C	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36222649C>G	(Likely) benign	1 lab	f520b55c94
2:31610692 XDH A>G	2	31610692	31610692	A	G	XDH	c.636T>C	NM_000379.4	NP_000370.2:p.(Phe212=)	NC_000002.11:g.31610692A>G	(Likely) benign	1 lab	f52185539f
2:179449645 TTN C>A	2	179449645	179449645	C	A	TTN	c.37903G>T	NM_133432.3	NP_597676.3:p.(Asp12635Tyr)	NC_000002.11:g.179449645C>A	VUS	1 lab	f52ac796ca
1:40734186 ZMPSTE24 A>G	1	40734186	40734186	A	G	ZMPSTE24				NC_000001.10:g.40734186A>G	(Likely) benign	1 lab	f52d56ca90
X:22263483 PHEX C>T	X	22263483	22263483	C	T	PHEX	c.2104C>T	NM_000444.6	NP_000435.3:p.(Arg702Ter)	NC_000023.10:g.22263483C>T	(Likely) pathogenic	1 lab	dd491e4910
X:106113951 TBC1D8B G>A	X	106113951	106113951	G	A	TBC1D8B	c.2875G>A	NM_017752.3	NP_060222.2:p.(Gly959Arg)	NC_000023.10:g.106113951G>A	VUS	1 lab	f53270bb3a
7:128498088 FLNC C>T	7	128498088	128498088	C	T	FLNC	c.7807C>T	NM_001458.4	NP_001449.3:p.(Leu2603Phe)	NC_000007.13:g.128498088C>T	VUS	1 lab	f53591a888
4:79403088 FRAS1 G>A	4	79403088	79403088	G	A	FRAS1	c.8574G>A	NM_025074.7	NP_079350.5:p.(Lys2858=)	NC_000004.11:g.79403088G>A	(Likely) benign	1 lab	f53665fc2a
14:50113991 POLE2 G>C	14	50113991	50113991	G	C	POLE2	c.1334+20C>G	NM_001348385.1	NP_001335314.1:p.?	NC_000014.8:g.50113991G>C	(Likely) benign	1 lab	f53b3809d5
13:43174896 TNFSF11 A>G	13	43174896	43174896	A	G	TNFSF11	c.396A>G	NM_003701.4	NP_003692.1:p.(Gln132=)	NC_000013.10:g.43174896A>G	(Likely) benign	1 lab	f53da2262c
18:59780393 PIGN T>A	18	59780393	59780393	T	A	PIGN	c.1408A>T	NM_176787.4	NP_789744.1:p.(Ile470Leu)	NC_000018.9:g.59780393T>A	(Likely) benign	1 lab	f54100d76e
1:235922320 LYST T>C	1	235922320	235922320	T	C	LYST	c.6833A>G	NM_000081.3	NP_000072.2:p.(Tyr2278Cys)	NC_000001.10:g.235922320T>C	(Likely) benign	1 lab	f541486b6e
2:98354026 ZAP70 T>C	2	98354026	98354026	T	C	ZAP70	c.1380T>C	NM_001079.3	NP_001070.2:p.(Arg460=)	NC_000002.11:g.98354026T>C	(Likely) benign	1 lab	f545cf7c2e
X:31227699 DMD C>T	X	31227699	31227699	C	T	DMD	c.9479G>A	NM_004006.3	NP_003997.2:p.(Arg3160His)	NC_000023.10:g.31227699C>T	(Likely) benign	1 lab	dd4d67b722
10:72195156 NODAL G>C	10	72195156	72195156	G	C	NODAL	c.777C>G	NM_018055.5	NP_060525.3:p.(Ile259Met)	NC_000010.10:g.72195156G>C	VUS	1 lab	dd4e908315
16:1270475 CACNA1H G>A	16	1270475	1270475	G	A	CACNA1H	c.6543G>A	NM_021098.3	NP_066921.2:p.(Ala2181=)	NC_000016.9:g.1270475G>A	(Likely) benign	1 lab	f55e4e3e4b
16:14647992 PARN A>G	16	14647992	14647992	A	G	PARN	c.1335T>C	NM_002582.4	NP_002573.1:p.(Asp445=)	NC_000016.9:g.14647992A>G	(Likely) benign	1 lab	f565bded59
8:17810590 PCM1 G>A	8	17810590	17810590	G	A	PCM1	c.1183G>A	NM_006197.4	NP_006188.4:p.(Glu395Lys)	NC_000008.10:g.17810590G>A	(Likely) benign	1 lab	f56975c50e
10:64574206 EGR2 C>G	10	64574206	64574206	C	G	EGR2	c.192G>C	NM_000399.3	NP_000390.2:p.(Met64Ile)	NC_000010.10:g.64574206C>G	(Likely) benign	1 lab	f56a9b08b4
4:120427058 PDE5A C>T	4	120427058	120427058	C	T	PDE5A	c.2219G>A	NM_001083.4	NP_001074.2:p.(Arg740Lys)	NC_000004.11:g.120427058C>T	(Likely) benign	1 lab	f56c37e1fd
3:97508895 ARL6 TTG>T	3	97508895	97508935	TTG	T	ARL6	c.480-1681_480-1680del	NM_001278293.3	NP_001265222.1:p.?	NC_000003.11:g.97508934_97508935del	(Likely) benign	1 lab	f56e3d2047
11:836172 CD151 GCCCCCA>G	11	836172	836194	GCCCCCA	G	CD151	c.84+36_84+41del	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.836189_836194del	(Likely) benign	1 lab	f56ee546eb
1:43909078 SZT2 C>G	1	43909078	43909078	C	G	SZT2	c.8384C>G	NM_015284.4	NP_056099.3:p.(Thr2795Arg)	NC_000001.10:g.43909078C>G	(Likely) benign	1 lab	f56f9f0c46
5:94834124 SKIC3 G>A	5	94834124	94834124	G	A	SKIC3	c.3513C>T	NM_014639.3	NP_055454.1:p.(Leu1171=)	NC_000005.9:g.94834124G>A	(Likely) benign	1 lab	f571017ed5
4:79188411 FRAS1 G>A	4	79188411	79188411	G	A	FRAS1	c.806G>A	NM_025074.7	NP_079350.5:p.(Arg269Gln)	NC_000004.11:g.79188411G>A	(Likely) benign	1 lab	f57145fc4d
15:31197649 FAN1 G>A	15	31197649	31197649	G	A	FAN1	c.783G>A	NM_014967.5	NP_055782.3:p.(Ala261=)	NC_000015.9:g.31197649G>A	(Likely) benign	1 lab	f575c01a1b
6:32947544 BRD2 T>TGG	6	32947544	32947547	T	TGG	BRD2	c.1947-59_1947-58dup	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32947546_32947547dup	(Likely) benign	1 lab	f579f769e5
16:69726071 NFAT5 A>G	16	69726071	69726071	A	G	NFAT5	c.2061A>G	NM_138714.4	NP_619728.2:p.(Pro687=)	NC_000016.9:g.69726071A>G	(Likely) benign	1 lab	f57be7c937
5:127730907 FBN2 G>A	5	127730907	127730907	G	A	FBN2	c.1139C>T	NM_001999.4	NP_001990.2:p.(Pro380Leu)	NC_000005.9:g.127730907G>A	VUS	1 lab	dd50408927
1:156105719 LMNA GACCTGGAGGACTCACTGGCCCGTGAGCGGGAC>G	1	156105719	156105754	GACCTGGAGGACTCACTGGCCCGTGAGCGGGAC	G	LMNA	c.968_999del	NM_170707.4	NP_733821.1:p.(Leu323GlnfsTer92)	NC_000001.10:g.156105723_156105754del	(Likely) pathogenic	1 lab	f5811f2711
7:128493513 FLNC T>G	7	128493513	128493513	T	G	FLNC	c.6209-10T>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128493513T>G	(Likely) benign	1 lab	f5851fd81d
9:140646788 EHMT1 C>T	9	140646788	140646788	C	T	EHMT1	c.1176C>T	NM_024757.5	NP_079033.4:p.(Asp392=)	NC_000009.11:g.140646788C>T	(Likely) benign	1 lab	f589989180
7:78256446 MAGI2 C>T	7	78256446	78256446	C	T	MAGI2	c.528G>A	NM_012301.4	NP_036433.2:p.(Gly176=)	NC_000007.13:g.78256446C>T	(Likely) benign	1 lab	f58a291f22
X:154197701 F8 A>G	X	154197701	154197701	A	G	F8	c.914T>C	NM_000132.3	NP_000123.1:p.(Leu305Ser)	NC_000023.10:g.154197701A>G	(Likely) pathogenic	1 lab	f590dba8b8
2:170100029 LRP2 G>A	2	170100029	170100029	G	A	LRP2	c.3434C>T	NM_004525.3	NP_004516.2:p.(Ser1145Leu)	NC_000002.11:g.170100029G>A	(Likely) benign	1 lab	f591106c67
3:4726848 ITPR1 G>A	3	4726848	4726848	G	A	ITPR1	c.3615G>A	NM_001168272.1	NP_001161744.1:p.(Ala1205=)	NC_000003.11:g.4726848G>A	(Likely) benign	1 lab	f591a7ec9f
1:236918426 ACTN2 G>C	1	236918426	236918426	G	C	ACTN2	c.2082G>C	NM_001103.3	NP_001094.1:p.(Lys694Asn)	NC_000001.10:g.236918426G>C	(Likely) benign	1 lab	f59345c6c5
X:154176059 F8 G>C	X	154176059	154176059	G	C	F8	c.2027C>G	NM_000132.3	NP_000123.1:p.(Thr676Ser)	NC_000023.10:g.154176059G>C	VUS	1 lab	f5976330af
11:117869807 IL10RA G>A	11	117869807	117869807	G	A	IL10RA	c.1188G>A	NM_001558.3	NP_001549.2:p.(Arg396=)	NC_000011.9:g.117869807G>A	(Likely) benign	1 lab	f597db5eee
2:5833848 SOX11 C>T	2	5833848	5833848	C	T	SOX11	c.995C>T	NM_003108.4	NP_003099.1:p.(Ser332Leu)	NC_000002.11:g.5833848C>T	VUS	1 lab	dd508aec80
7:128488023 FLNC G>A	7	128488023	128488023	G	A	FLNC	c.4481G>A	NM_001458.4	NP_001449.3:p.(Arg1494Gln)	NC_000007.13:g.128488023G>A	VUS	1 lab	f5a2fb20c4
16:86601773 FOXC2 C>T	16	86601773	86601773	C	T	FOXC2	c.832C>T	NM_005251.3	NP_005242.1:p.(Leu278=)	NC_000016.9:g.86601773C>T	(Likely) benign	1 lab	f5a621c861
5:39288809 C9 A>C	5	39288809	39288809	A	C	C9	c.1645+16T>G	NM_001737.3	NP_001728.1:p.?	NC_000005.9:g.39288809A>C	(Likely) benign	1 lab	f5a63f6fec
8:68335009 CPA6 C>T	8	68335009	68335009	C	T	CPA6	c.1127-83G>A	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68335009C>T	(Likely) benign	1 lab	f5ab870a64
12:110023924 MVK A>G	12	110023924	110023924	A	G	MVK	c.625A>G	NM_000431.2	NP_000422.1:p.(Thr209Ala)	NC_000012.11:g.110023924A>G	(Likely) pathogenic	1 lab	f5b0acb989
X:110987953 ALG13 TACCACCACCACCACC>T	X	110987953	110987998	TACCACCACCACCACC	T	ALG13	c.2784_2798del	NM_001099922.3	NP_001093392.1:p.(Pro941_Pro945del)	NC_000023.10:g.110987984_110987998del	(Likely) benign	1 lab	f5b190897f
9:137726851 COL5A1 G>C	9	137726851	137726851	G	C	COL5A1	c.5171G>C	NM_000093.4	NP_000084.3:p.(Gly1724Ala)	NC_000009.11:g.137726851G>C	VUS	1 lab	f5b195ce5e
5:37205466 CPLANE1 G>A	5	37205466	37205466	G	A	CPLANE1	c.3240C>T	NM_023073.3	NP_075561.3:p.(Ala1080=)	NC_000005.9:g.37205466G>A	(Likely) benign	1 lab	f5b36bc09c
10:115381624 NRAP T>A	10	115381624	115381624	T	A	NRAP	c.2769+4A>T	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115381624T>A	VUS	1 lab	f5b4060c72
16:4752091 ANKS3 G>T	16	4752091	4752091	G	T	ANKS3	c.1009+12C>A	NM_133450.4	NP_597707.1:p.?	NC_000016.9:g.4752091G>T	(Likely) benign	1 lab	f5b9b13669
11:56143784 OR8U1 C>T	11	56143784	56143784	C	T	OR8U1	c.685C>T	NM_001005204.1	NP_001005204.1:p.(His229Tyr)	NC_000011.9:g.56143784C>T	(Likely) benign	1 lab	f5b9fa36b3
16:1505792 CLCN7 C>T	16	1505792	1505792	C	T	CLCN7	c.921G>A	NM_001287.6	NP_001278.1:p.(Gly307=)	NC_000016.9:g.1505792C>T	(Likely) benign	1 lab	f5babd0069
11:65320635 LTBP3 C>T	11	65320635	65320635	C	T	LTBP3	c.1063G>A	NM_001130144.2	NP_001123616.1:p.(Asp355Asn)	NC_000011.9:g.65320635C>T	(Likely) pathogenic	1 lab	f5bb2485d3
5:127640785 FBN2 A>AC	5	127640785	127640786	A	AC	FBN2	c.5675-12_5675-11insG	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640785_127640786insC	(Likely) benign	1 lab	f5bd2316f6
6:45390617 RUNX2 A>G	6	45390617	45390617	A	G	RUNX2	c.346A>G	NM_001024630.4	NP_001019801.3:p.(Thr116Ala)	NC_000006.11:g.45390617A>G	(Likely) pathogenic	1 lab	f5bfbbc92d
10:79781693 POLR3A G>A	10	79781693	79781693	G	A	POLR3A	c.973C>T	NM_007055.4	NP_008986.2:p.(Leu325Phe)	NC_000010.10:g.79781693G>A	VUS	1 lab	dd5804ce2b
19:54393263 PRKCG A>C	19	54393263	54393263	A	C	PRKCG	c.521A>C	NM_002739.3	NP_002730.1:p.(His174Pro)	NC_000019.9:g.54393263A>C	(Likely) pathogenic	1 lab	f5c052ccd4
1:158656257 SPTA1 T>C	1	158656257	158656257	T	C	SPTA1	c.24+27A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656257T>C	(Likely) benign	1 lab	f5c23fa69d
19:4818097 TICAM1 C>T	19	4818097	4818097	C	T	TICAM1	c.293G>A	NM_182919.4	NP_891549.1:p.(Arg98His)	NC_000019.9:g.4818097C>T	VUS	1 lab	dd5857ca97
11:6662142 DCHS1 G>A	11	6662142	6662142	G	A	DCHS1	c.703C>T	NM_003737.4	NP_003728.1:p.(Arg235Trp)	NC_000011.9:g.6662142G>A	VUS	1 lab	dd5917da9a
10:89692890 PTEN A>G	10	89692890	89692890	A	G	PTEN	c.374A>G	NM_000314.4	NP_000305.3:p.(Lys125Arg)	NC_000010.10:g.89692890A>G	(Likely) pathogenic	1 lab	f5d1786a8f
16:56913451 SLC12A3 C>A	16	56913451	56913451	C	A	SLC12A3	c.1336-3C>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56913451C>A	(Likely) pathogenic	1 lab	f5d2f16d98
3:123419686 MYLK C>T	3	123419686	123419686	C	T	MYLK	c.2629G>A	NM_053025.3	NP_444253.3:p.(Val877Met)	NC_000003.11:g.123419686C>T	VUS	1 lab	f5d4686ce5
12:110029038 MVK T>TTC	12	110029038	110029042	T	TTC	MVK	c.769-5_769-4dup	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029041_110029042dup	(Likely) benign	1 lab	f5d71fda3b
19:38980821 RYR1 C>T	19	38980821	38980821	C	T	RYR1	c.5920C>T	NM_000540.3	NP_000531.2:p.(Arg1974Trp)	NC_000019.9:g.38980821C>T	VUS	1 lab	dd5bfce34a
2:16085969 MYCN G>C	2	16085969	16085969	G	C	MYCN	c.1145G>C	NM_005378.6	NP_005369.2:p.(Arg382Pro)	NC_000002.11:g.16085969G>C	(Likely) pathogenic	1 lab	dd5c191e8d
1:237802481 RYR2 T>A	1	237802481	237802481	T	A	RYR2	c.7095T>A	NM_001035.3	NP_001026.2:p.(Asn2365Lys)	NC_000001.10:g.237802481T>A	(Likely) benign	1 lab	f5e0832e24
12:110019304 MVK CTG>C	12	110019304	110019310	CTG	C	MVK	c.481_482del	NM_000431.4	NP_000422.1:p.(Cys161ArgfsTer25)	NC_000012.11:g.110019309_110019310del	(Likely) pathogenic	1 lab	f5e1c0371d
13:77569030 CLN5 A>G	13	77569030	77569030	A	G	CLN5	c.321-168A>G	NM_006493.2	NP_006484.1:p.?	NC_000013.10:g.77569030A>G	(Likely) benign	1 lab	f5ee6c2661
11:32439001 WT1 T>C	11	32439001	32439001	T	C	WT1				NC_000011.9:g.32439001T>C	(Likely) benign	1 lab	f5ef259188
7:91632098 AKAP9 C>T	7	91632098	91632098	C	T	AKAP9	c.2867C>T	NM_005751.4	NP_005742.4:p.(Ser956Leu)	NC_000007.13:g.91632098C>T	VUS	1 lab	f5f5d87d65
3:186300546 DNAJB11 C>T	3	186300546	186300546	C	T	DNAJB11	c.724C>T	NM_016306.5	NP_057390.1:p.(Arg242Ter)	NC_000003.11:g.186300546C>T	(Likely) pathogenic	1 lab	f5f612367a
9:136298841 ADAMTS13 G>T	9	136298841	136298841	G	T	ADAMTS13	c.1308+17G>T	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136298841G>T	(Likely) benign	1 lab	f5f9f55fd7
8:65537104 CYP7B1 GA>G	8	65537104	65537115	GA	G	CYP7B1	c.123-9del	NM_004820.5	NP_004811.1:p.?	NC_000008.10:g.65537115del	(Likely) benign	1 lab	f5fa94058f
8:94807619 TMEM67 C>CT	8	94807619	94807627	C	CT	TMEM67	c.1675-10dup	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94807627dup	(Likely) benign	1 lab	f5fbac35c6
22:40859216 MRTFA G>C	22	40859216	40859216	G	C	MRTFA	c.307+9C>G	NM_020831.6	NP_065882.2:p.?	NC_000022.10:g.40859216G>C	(Likely) benign	1 lab	f5fc85e9da
6:43623376 RSPH9 C>T	6	43623376	43623376	C	T	RSPH9	c.471C>T	NM_152732.5	NP_689945.2:p.(Gly157=)	NC_000006.11:g.43623376C>T	(Likely) benign	1 lab	f5fed1bf0e
3:25653995 TOP2B G>T	3	25653995	25653995	G	T	TOP2B	c.3771+11C>A	NM_001068.3	NP_001059.2:p.?	NC_000003.11:g.25653995G>T	(Likely) benign	1 lab	f600548963
12:45695890 ANO6 C>T	12	45695890	45695890	C	T	ANO6	c.213+14C>T	NM_001204803.2	NP_001191732.1:p.?	NC_000012.11:g.45695890C>T	(Likely) benign	1 lab	f600780c0f
16:3293403 MEFV T>A	16	3293403	3293403	T	A	MEFV	c.2084A>T	NM_000243.2	NP_000234.1:p.(Lys695Met)	NC_000016.9:g.3293403T>A	(Likely) pathogenic	1 lab	f60118e44e
1:22964091 C1QA G>A	1	22964091	22964091	G	A	C1QA	c.-7-12G>A	NM_015991.2	NP_057075.1:p.?	NC_000001.10:g.22964091G>A	(Likely) benign	1 lab	f60b17436d
19:5892954 NDUFA11 T>C	19	5892954	5892954	T	C	NDUFA11	c.661A>G	NM_001193375.3	NP_001180304.1:p.(Thr221Ala)	NC_000019.9:g.5892954T>C	(Likely) benign	1 lab	dd607e17d2
16:2165973 PKD1 C>A	16	2165973	2165973	C	A	PKD1	c.1849+20G>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2165973C>A	(Likely) benign	1 lab	f619a02d3f
3:125033777 ZNF148 G>A	3	125033777	125033777	G	A	ZNF148	c.-16-1277C>T	NM_021964.3	NP_068799.2:p.?	NC_000003.11:g.125033777G>A	(Likely) benign	1 lab	dd61db5d08
5:88026063 MEF2C C>T	5	88026063	88026063	C	T	MEF2C	c.811-12G>A	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88026063C>T	(Likely) benign	1 lab	f622529d6c
8:100160338 VPS13B G>T	8	100160338	100160338	G	T	VPS13B	c.2013+100G>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100160338G>T	(Likely) benign	1 lab	f6248d2199
21:33036170 SOD1 A>G	21	33036170	33036170	A	G	SOD1	c.140A>G	NM_000454.4	NP_000445.1:p.(His47Arg)	NC_000021.8:g.33036170A>G	(Likely) pathogenic	1 lab	f624cc0b9e
6:33391175 SYNGAP1 T>G	6	33391175	33391175	T	G	SYNGAP1	c.68-79T>G	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33391175T>G	(Likely) benign	1 lab	f6255065a4
X:99922569 SRPX2 C>T	X	99922569	99922569	C	T	SRPX2	c.1095+165C>T	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99922569C>T	(Likely) benign	1 lab	f627df92af
6:137519630 IFNGR1 G>A	6	137519630	137519630	G	A	IFNGR1	c.1008C>T	NM_000416.2	NP_000407.1:p.(Thr336=)	NC_000006.11:g.137519630G>A	(Likely) benign	1 lab	f629bb2604
6:18122447 NHLRC1 C>T	6	18122447	18122447	C	T	NHLRC1	c.391G>A	NM_198586.3	NP_940988.2:p.(Gly131Arg)	NC_000006.11:g.18122447C>T	(Likely) pathogenic	1 lab	f62b91aa82
19:55648544 TNNT1 C>A	19	55648544	55648544	C	A	TNNT1	c.538G>T	NM_003283.6	NP_003274.3:p.(Glu180Ter)	NC_000019.9:g.55648544C>A	(Likely) pathogenic	1 lab	f63394df48
1:237817514 RYR2 GA>G	1	237817514	237817523	GA	G	RYR2	c.7825-51del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237817523del	(Likely) benign	1 lab	f63a687bc7
14:105167919 INF2 G>A	14	105167919	105167919	G	A	INF2	c.217G>A	NM_022489.3	NP_071934.3:p.(Gly73Ser)	NC_000014.8:g.105167919G>A	(Likely) pathogenic	1 lab	f6404cdcc7
2:216274456 FN1 G>A	2	216274456	216274456	G	A	FN1	c.2129C>T	NM_212482.2	NP_997647.1:p.(Thr710Ile)	NC_000002.11:g.216274456G>A	(Likely) benign	1 lab	f64162ffe9
19:55446084 NLRP7 CT>C	19	55446084	55446095	CT	C	NLRP7	c.2301-58del	NM_001127255.2	NP_001120727.1:p.?	NC_000019.9:g.55446095del	(Likely) benign	1 lab	f644480c28
2:228560645 SLC19A3 T>C	2	228560645	228560645	T	C	SLC19A3	c.1132A>G	NM_025243.4	NP_079519.1:p.(Ile378Val)	NC_000002.11:g.228560645T>C	(Likely) benign	1 lab	f646db55e3
7:37924737 NME8 T>G	7	37924737	37924737	T	G	NME8	c.1140-10T>G	NM_016616.5	NP_057700.3:p.?	NC_000007.13:g.37924737T>G	(Likely) benign	1 lab	dd68fe66d5
5:161529185 GABRG2 A>G	5	161529185	161529185	A	G	GABRG2				NC_000005.9:g.161529185A>G	(Likely) benign	1 lab	f64885e96c
6:49574994 RHAG A>G	6	49574994	49574994	A	G	RHAG	c.1068-61T>C	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49574994A>G	(Likely) benign	1 lab	f64b273c67
1:160322491 NCSTN G>A	1	160322491	160322491	G	A	NCSTN	c.997-186G>A	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160322491G>A	(Likely) benign	1 lab	f64eb6e3cc
2:109367706 RANBP2 T>A	2	109367706	109367706	T	A	RANBP2	c.1274-14T>A	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109367706T>A	(Likely) benign	1 lab	f652bd82aa
7:140434586 BRAF G>GAAAAAAAAAAAAAAAAAAAAAAA	7	140434586	140434597	G	GAAAAAAAAAAAAAAAAAAAAAAA	BRAF	c.2128-17_2128-16insTTTTTTTTTTTTTTTTTTTTTTT	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140434596_140434597insAAAAAAAAAAAAAAAAAAAAAAA	(Likely) benign	1 lab	f65ccaa074
5:89980103 ADGRV1 A>T	5	89980103	89980103	A	T	ADGRV1	c.6274+91A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89980103A>T	(Likely) benign	1 lab	f65f6a12de
17:68172038 KCNJ2 C>T	17	68172038	68172038	C	T	KCNJ2	c.858C>T	NM_000891.2	NP_000882.1:p.(Asp286=)	NC_000017.10:g.68172038C>T	(Likely) benign	1 lab	f663f18714
2:169781304 ABCB11 T>G	2	169781304	169781304	T	G	ABCB11	c.3628A>C	NM_003742.4	NP_003733.2:p.(Thr1210Pro)	NC_000002.11:g.169781304T>G	(Likely) pathogenic	1 lab	f66e07e9e4
9:102888941 INVS A>T	9	102888941	102888941	A	T	INVS	c.273+110A>T	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.102888941A>T	(Likely) benign	1 lab	f66ee4e504
3:179119126 GNB4 A>G	3	179119126	179119126	A	G	GNB4	c.917-19T>C	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179119126A>G	(Likely) benign	1 lab	f66ee6df11
1:206944845 IL10 AT>A	1	206944845	206944856	AT	A	IL10	c.166-86del	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944856del	(Likely) benign	1 lab	f67aecf5cf
1:247588543 NLRP3 A>T	1	247588543	247588543	A	T	NLRP3	c.1792A>T	NM_001243133.2	NP_001230062.1:p.(Ile598Phe)	NC_000001.10:g.247588543A>T	(Likely) pathogenic	1 lab	f67f8f9626
7:117188883 CFTR T>A	7	117188883	117188883	T	A	CFTR	c.1392+6T>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117188883T>A	VUS	1 lab	f680b7a464
11:95825870 MAML2 T>A	11	95825870	95825870	T	A	MAML2	c.1325A>T	NM_032427.4	NP_115803.1:p.(Asn442Ile)	NC_000011.9:g.95825870T>A	VUS	1 lab	dd6a8ef6d3
2:166152433 SCN2A G>A	2	166152433	166152433	G	A	SCN2A	c.100G>A	NM_021007.3	NP_066287.2:p.(Ala34Thr)	NC_000002.11:g.166152433G>A	(Likely) benign	1 lab	f6887b716c
X:153247610 TMEM187 G>C	X	153247610	153247610	G	C	TMEM187	c.97G>C	NM_003492.3	NP_003483.1:p.(Val33Leu)	NC_000023.10:g.153247610G>C	(Likely) benign	1 lab	f68d0b70a3
16:3304528 MEFV C>G	16	3304528	3304528	C	G	MEFV	c.540G>C	NM_000243.2	NP_000234.1:p.(Pro180=)	NC_000016.9:g.3304528C>G	(Likely) benign	1 lab	f68e90ee5f
18:32395986 DTNA G>C	18	32395986	32395986	G	C	DTNA	c.709+8G>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32395986G>C	(Likely) benign	1 lab	f69978f1cf
10:112572036 RBM20 A>G	10	112572036	112572036	A	G	RBM20	c.1881A>G	NM_001134363.3	NP_001127835.2:p.(Arg627=)	NC_000010.10:g.112572036A>G	VUS	1 lab	dd6a9ec35b
2:228115882 COL4A3 T>C	2	228115882	228115882	T	C	COL4A3	c.573T>C	NM_000091.4	NP_000082.2:p.(Pro191=)	NC_000002.11:g.228115882T>C	(Likely) benign	1 lab	f69e37e17c
4:154178697 TRIM2 A>G	4	154178697	154178697	A	G	TRIM2	c.-48-12793A>G	NM_001130067.2	NP_001123539.1:p.?	NC_000004.11:g.154178697A>G	(Likely) benign	1 lab	f6a16a8827
15:93563164 CHD2 C>CA	15	93563164	93563177	C	CA	CHD2	c.4907-65dup	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563177dup	(Likely) benign	1 lab	f6a7ddb12f
15:43495212 EPB42 T>C	15	43495212	43495212	T	C	EPB42	c.1869+101A>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43495212T>C	(Likely) benign	1 lab	f6a7ebe58a
18:28662275 DSC2 C>T	18	28662275	28662275	C	T	DSC2				NC_000018.9:g.28662275C>T	VUS	1 lab	f6a9e9c08a
14:64689913 SYNE2 G>A	14	64689913	64689913	G	A	SYNE2	c.20197G>A	NM_182914.2	NP_878918.2:p.(Glu6733Lys)	NC_000014.8:g.64689913G>A	(Likely) benign	1 lab	f6aac376b8
19:36216665 KMT2B G>A	19	36216665	36216665	G	A	KMT2B	c.3831G>A	NM_014727.2	NP_055542.1:p.(Pro1277=)	NC_000019.9:g.36216665G>A	(Likely) benign	1 lab	f6ab4459c1
1:6181191 CHD5 G>A	1	6181191	6181191	G	A	CHD5	c.4886C>T	NM_015557.3	NP_056372.1:p.(Pro1629Leu)	NC_000001.10:g.6181191G>A	(Likely) benign	1 lab	dd6d6304d7
9:14776145 FREM1 T>A	9	14776145	14776145	T	A	FREM1	c.4499A>T	NM_144966.5	NP_659403.4:p.(Glu1500Val)	NC_000009.11:g.14776145T>A	VUS	1 lab	f6b419fe39
13:26789528 RNF6 A>AT	13	26789528	26789531	A	AT	RNF6	c.490dup	NM_005977.4	NP_005968.1:p.(Ile164AsnfsTer14)	NC_000013.10:g.26789531dup	VUS	1 lab	dd6da5199c
19:34924255 UBA2 C>T	19	34924255	34924255	C	T	UBA2	c.296C>T	NM_005499.3	NP_005490.1:p.(Pro99Leu)	NC_000019.9:g.34924255C>T	VUS	1 lab	dd707e46c1
X:123025185 XIAP A>T	X	123025185	123025185	A	T	XIAP	c.1056+19A>T	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123025185A>T	(Likely) benign	1 lab	f6c1aaf4af
6:32037906 TNXB G>C	6	32037906	32037906	G	C	TNXB	c.5276C>G	NM_019105.8	NP_061978.6:p.(Thr1759Arg)	NC_000006.11:g.32037906G>C	VUS	1 lab	dd72ccaec0
17:37947692 IKZF3 G>A	17	37947692	37947692	G	A	IKZF3	c.569C>T	NM_012481.5	NP_036613.2:p.(Thr190Met)	NC_000017.10:g.37947692G>A	VUS	1 lab	dd766ee732
2:168099796 XIRP2 T>C	2	168099796	168099796	T	C	XIRP2	c.1894T>C	NM_152381.6	NP_689594.4:p.(Tyr632His)	NC_000002.11:g.168099796T>C	(Likely) benign	1 lab	f6ca30b3f1
7:113518502 PPP1R3A A>T	7	113518502	113518502	A	T	PPP1R3A	c.2645T>A	NM_002711.4	NP_002702.2:p.(Leu882His)	NC_000007.13:g.113518502A>T	(Likely) benign	1 lab	dd7675afab
2:202150052 CASP8 C>T	2	202150052	202150052	C	T	CASP8	c.1355+12C>T	NM_001228.4	NP_001219.2:p.?	NC_000002.11:g.202150052C>T	(Likely) benign	1 lab	f6d65c6f65
1:193110984 CDC73 T>C	1	193110984	193110984	T	C	CDC73	c.517T>C	NM_024529.4	NP_078805.3:p.(Leu173=)	NC_000001.10:g.193110984T>C	(Likely) benign	1 lab	f6dadbdf5e
1:210637989 HHAT G>A	1	210637989	210637989	G	A	HHAT	c.997G>A	NM_018194.6	NP_060664.2:p.(Gly333Arg)	NC_000001.10:g.210637989G>A	(Likely) benign	1 lab	f6de5366b5
8:72211325 EYA1 C>T	8	72211325	72211325	C	T	EYA1	c.783G>A	NM_000503.5	NP_000494.2:p.(Pro261=)	NC_000008.10:g.72211325C>T	(Likely) benign	1 lab	f6de763802
X:66863224 AR G>A	X	66863224	66863224	G	A	AR	c.1743G>A	NM_000044.6	NP_000035.2:p.(Lys581=)	NC_000023.10:g.66863224G>A	(Likely) benign	1 lab	f6de9eec86
2:179424766 TTN C>T	2	179424766	179424766	C	T	TTN	c.86093G>A	NM_001267550.2	NP_001254479.2:p.(Trp28698Ter)	NC_000002.11:g.179424766C>T	(Likely) pathogenic	1 lab	dd76efdcfb
10:95185933 MYOF G>A	10	95185933	95185933	G	A	MYOF	c.346-18C>T	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95185933G>A	(Likely) benign	1 lab	f6e3e2c7f2
16:3294177 MEFV A>AG	16	3294177	3294180	A	AG	MEFV	c.1759+76dup	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3294180dup	(Likely) benign	1 lab	f6e4207156
10:45429130 TMEM72 C>A	10	45429130	45429130	C	A	TMEM72	c.255C>A	NM_001123376.3	NP_001116848.1:p.(His85Gln)	NC_000010.10:g.45429130C>A	(Likely) benign	1 lab	f6e4aeeaf4
5:34950450 DNAJC21 AAGTC>A	5	34950450	34950455	AAGTC	A	DNAJC21	c.1493+5_1493+8del	NM_194283.4	NP_919259.3:p.?	NC_000005.9:g.34950452_34950455del	(Likely) benign	1 lab	dd7b87c668
11:22297606 ANO5 AT>A	11	22297606	22297618	AT	A	ANO5	c.2415-22del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22297618del	(Likely) benign	1 lab	f6eb119510
18:55322730 ATP8B1 G>T	18	55322730	55322730	G	T	ATP8B1	c.2708-81C>A	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55322730G>T	(Likely) benign	1 lab	f6f02cc927
3:10183693 VHL G>C	3	10183693	10183693	G	C	VHL	c.162G>C	NM_000551.3	NP_000542.1:p.(Met54Ile)	NC_000003.11:g.10183693G>C	VUS	1 lab	f6f2b47532
15:37329086 MEIS2 G>A	15	37329086	37329086	G	A	MEIS2	c.829C>T	NM_170677.5	NP_733777.1:p.(Gln277Ter)	NC_000015.9:g.37329086G>A	(Likely) pathogenic	1 lab	f6f48e7389
2:166806073 TTC21B C>G	2	166806073	166806073	C	G	TTC21B	c.151+32G>C	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166806073C>G	(Likely) benign	1 lab	f6f862fcff
19:11617073 ECSIT C>T	19	11617073	11617073	C	T	ECSIT	c.1222G>A	NM_016581.5	NP_057665.2:p.(Glu408Lys)	NC_000019.9:g.11617073C>T	(Likely) benign	1 lab	f6f8b40b93
10:72192832 NODAL G>A	10	72192832	72192832	G	A	NODAL	c.904C>T	NM_018055.5	NP_060525.3:p.(Arg302Cys)	NC_000010.10:g.72192832G>A	VUS	1 lab	f6fc319ede
14:64447777 SYNE2 A>G	14	64447777	64447777	A	G	SYNE2	c.1722A>G	NM_182914.2	NP_878918.2:p.(Ile574Met)	NC_000014.8:g.64447777A>G	(Likely) benign	1 lab	f70246d726
20:21695183 PAX1 C>T	20	21695183	21695183	C	T	PAX1	c.1347C>T	NM_006192.5	NP_006183.2:p.(Ser449=)	NC_000020.10:g.21695183C>T	(Likely) benign	1 lab	f70407ca45
17:73836317 UNC13D T>C	17	73836317	73836317	T	C	UNC13D	c.847A>G	NM_199242.2	NP_954712.1:p.(Ile283Val)	NC_000017.10:g.73836317T>C	(Likely) benign	1 lab	f705742702
1:234743180 IRF2BP2 G>A	1	234743180	234743180	G	A	IRF2BP2	c.1467C>T	NM_182972.2	NP_892017.2:p.(His489=)	NC_000001.10:g.234743180G>A	(Likely) benign	1 lab	f70605e071
16:3304260 MEFV T>C	16	3304260	3304260	T	C	MEFV	c.808A>G	NM_000243.2	NP_000234.1:p.(Asn270Asp)	NC_000016.9:g.3304260T>C	VUS	1 lab	f974fce8e6
8:100123518 VPS13B CT>C	8	100123518	100123526	CT	C	VPS13B	c.762+19del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100123526del	(Likely) benign	1 lab	f70cf7fc36
1:196621324 CFH CTT>C	1	196621324	196621328	CTT	C	CFH	c.58+22_58+23del	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196621327_196621328del	(Likely) benign	1 lab	f70f748603
10:43604533 RET C>T	10	43604533	43604533	C	T	RET	c.1118C>T	NM_020975.4	NP_066124.1:p.(Ala373Val)	NC_000010.10:g.43604533C>T	(Likely) benign	1 lab	f7126ed42e
5:127645684 FBN2 T>C	5	127645684	127645684	T	C	FBN2	c.5191A>G	NM_001999.4	NP_001990.2:p.(Asn1731Asp)	NC_000005.9:g.127645684T>C	VUS	1 lab	f713a8bc2d
20:47887926 ZNFX1 C>T	20	47887926	47887926	C	T	ZNFX1	c.423G>A	NM_021035.3	NP_066363.1:p.(Ala141=)	NC_000020.10:g.47887926C>T	(Likely) benign	1 lab	f713e03ff6
15:68521912 CLN6 G>A	15	68521912	68521912	G	A	CLN6	c.11C>T	NM_017882.3	NP_060352.1:p.(Thr4Met)	NC_000015.9:g.68521912G>A	VUS	1 lab	dd7cc30aef
15:54003066 WDR72 C>A	15	54003066	54003066	C	A	WDR72	c.942G>T	NM_182758.4	NP_877435.3:p.(Val314=)	NC_000015.9:g.54003066C>A	(Likely) benign	1 lab	f715d8cdb1
3:53757948 CACNA1D C>G	3	53757948	53757948	C	G	CACNA1D	c.2082C>G	NM_000720.4	NP_000711.1:p.(Gly694=)	NC_000003.11:g.53757948C>G	(Likely) benign	1 lab	f7187cda6f
17:26107840 NOS2 G>A	17	26107840	26107840	G	A	NOS2	c.957C>T	NM_000625.4	NP_000616.3:p.(Phe319=)	NC_000017.10:g.26107840G>A	(Likely) benign	1 lab	f71ca7e9aa
3:53223121 PRKCD C>T	3	53223121	53223121	C	T	PRKCD	c.1602C>T	NM_006254.4	NP_006245.2:p.(Phe534=)	NC_000003.11:g.53223121C>T	(Likely) benign	1 lab	f71ca9f232
X:15343169 PIGA G>A	X	15343169	15343169	G	A	PIGA	c.954C>T	NM_002641.3	NP_002632.1:p.(Ile318=)	NC_000023.10:g.15343169G>A	(Likely) benign	1 lab	f71f570113
2:43010449 HAAO T>G	2	43010449	43010449	T	G	HAAO	c.350+5A>C	NM_012205.3	NP_036337.2:p.?	NC_000002.11:g.43010449T>G	(Likely) benign	1 lab	f7225dfa26
10:112572227 RBM20 C>T	10	112572227	112572227	C	T	RBM20	c.2072C>T	NM_001134363.1	NP_001127835.1:p.(Ala691Val)	NC_000010.10:g.112572227C>T	VUS	1 lab	f78085db6c
7:154564608 DPP6 C>T	7	154564608	154564608	C	T	DPP6	c.1092C>T	NM_130797.4	NP_570629.2:p.(Pro364=)	NC_000007.13:g.154564608C>T	(Likely) benign	1 lab	f724870840
1:237935388 RYR2 A>G	1	237935388	237935388	A	G	RYR2	c.11634A>G	NM_001035.3	NP_001026.2:p.(Leu3878=)	NC_000001.10:g.237935388A>G	(Likely) benign	1 lab	f72848a8a6
19:2111666 AP3D1 A>T	19	2111666	2111666	A	T	AP3D1	c.2937+12T>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2111666A>T	(Likely) benign	1 lab	f7295ea849
11:126343247 KIRREL3 C>T	11	126343247	126343247	C	T	KIRREL3	c.548G>A	NM_032531.4	NP_115920.1:p.(Trp183Ter)	NC_000011.9:g.126343247C>T	VUS	1 lab	f72f357ad7
22:31022433 TCN2 A>G	22	31022433	31022433	A	G	TCN2				NC_000022.10:g.31022433A>G	VUS	1 lab	f7303973b3
3:98304268 CPOX G>A	3	98304268	98304268	G	A	CPOX	c.1172+17C>T	NM_000097.7	NP_000088.3:p.?	NC_000003.11:g.98304268G>A	(Likely) benign	1 lab	f7307ec947
22:32188622 DEPDC5 A>C	22	32188622	32188622	A	C	DEPDC5	c.695-109A>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188622A>C	(Likely) benign	1 lab	f73235ed4f
2:228148574 COL4A3 T>C	2	228148574	228148574	T	C	COL4A3	c.2746+2T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228148574T>C	(Likely) pathogenic	1 lab	f7331866b1
2:227924817 COL4A4 G>GAAAAAAAAAA	2	227924817	227924841	G	GAAAAAAAAAA	COL4A4	c.2164+25_2164+34dup	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924832_227924841dup	(Likely) benign	1 lab	f733a5c1ce
3:53217551 PRKCD C>T	3	53217551	53217551	C	T	PRKCD	c.741C>T	NM_006254.4	NP_006245.2:p.(Cys247=)	NC_000003.11:g.53217551C>T	(Likely) benign	1 lab	f73b9ad167
5:89989693 ADGRV1 A>G	5	89989693	89989693	A	G	ADGRV1	c.7134-14A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89989693A>G	(Likely) benign	1 lab	f741e24d30
19:18245711 MAST3 G>A	19	18245711	18245711	G	A	MAST3	c.1702G>A	NM_015016.2	NP_055831.1:p.(Val568Ile)	NC_000019.9:g.18245711G>A	(Likely) benign	1 lab	f748773267
13:32954085 BRCA2 T>C	13	32954085	32954085	T	C	BRCA2	c.9117+35T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954085T>C	VUS	1 lab	f748c174fd
2:166183665 SCN2A ATT>A	2	166183665	166183677	ATT	A	SCN2A	c.2149+182_2149+183del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166183676_166183677del	(Likely) benign	1 lab	f74a772a47
2:227942776 COL4A4 C>T	2	227942776	227942776	C	T	COL4A4	c.1821G>A	NM_000092.4	NP_000083.3:p.(Ala607=)	NC_000002.11:g.227942776C>T	(Likely) benign	1 lab	f75023acdc
19:31769001 TSHZ3 C>T	19	31769001	31769001	C	T	TSHZ3	c.1698G>A	NM_020856.4	NP_065907.2:p.(Ser566=)	NC_000019.9:g.31769001C>T	(Likely) benign	1 lab	f756c537b6
1:158656433 SPTA1 A>G	1	158656433	158656433	A	G	SPTA1	c.-126T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656433A>G	(Likely) benign	1 lab	f756f375a6
7:36438891 ANLN A>T	7	36438891	36438891	A	T	ANLN	c.376A>T	NM_018685.5	NP_061155.2:p.(Met126Leu)	NC_000007.13:g.36438891A>T	(Likely) benign	1 lab	f75ba02dcb
9:14824709 FREM1 CTA>C	9	14824709	14824724	CTA	C	FREM1	c.2078+83_2078+84del	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14824723_14824724del	(Likely) benign	1 lab	f75e18cac1
4:79308446 FRAS1 T>C	4	79308446	79308446	T	C	FRAS1	c.3649-83T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79308446T>C	(Likely) benign	1 lab	f7630cd087
11:103043918 DYNC2H1 C>T	11	103043918	103043918	C	T	DYNC2H1	c.5442C>T	NM_001080463.2	NP_001073932.1:p.(Pro1814=)	NC_000011.9:g.103043918C>T	(Likely) benign	1 lab	f7634f6bd0
1:158624641 SPTA1 C>T	1	158624641	158624641	C	T	SPTA1	c.2899-103G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158624641C>T	(Likely) benign	1 lab	f7659f6a20
2:231077461 SP110 G>A	2	231077461	231077461	G	A	SP110	c.583+15C>T	NM_004509.4	NP_004500.4:p.?	NC_000002.11:g.231077461G>A	(Likely) benign	1 lab	f76881c85a
16:3304738 MEFV C>T	16	3304738	3304738	C	T	MEFV	c.330G>A	NM_000243.2	NP_000234.1:p.(Leu110=)	NC_000016.9:g.3304738C>T	(Likely) benign	1 lab	f76c2548b5
16:27781232 KATNIP G>C	16	27781232	27781232	G	C	KATNIP	c.4026G>C	NM_015202.3	NP_056017.3:p.(Glu1342Asp)	NC_000016.9:g.27781232G>C	(Likely) benign	1 lab	f77a98d3d2
16:3298947 MEFV G>C	16	3298947	3298947	G	C	MEFV	c.1318C>G	NM_000243.2	NP_000234.1:p.(Gln440Glu)	NC_000016.9:g.3298947G>C	(Likely) benign	1 lab	f7e3a4c4f1
19:7703605 STXBP2 C>T	19	7703605	7703605	C	T	STXBP2	c.38-7C>T	NM_006949.2	NP_008880.2:p.?	NC_000019.9:g.7703605C>T	(Likely) benign	1 lab	f77d50f97f
2:179434897 TTN A>G	2	179434897	179434897	A	G	TTN	c.49142T>C	NM_133432.3	NP_597676.3:p.(Met16381Thr)	NC_000002.11:g.179434897A>G	VUS	1 lab	f77d7ccca1
2:179442544 TTN CCACCGT>C	2	179442544	179442552	CCACCGT	C	TTN	c.68603_68608del	NM_001267550.2	NP_001254479.2:p.(Asp22868_Gly22869del)	NC_000002.11:g.179442547_179442552del	VUS	1 lab	dd8091a48f
6:80626603 ELOVL4 G>C	6	80626603	80626603	G	C	ELOVL4	c.670-3C>G	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80626603G>C	(Likely) benign	1 lab	dd818d039b
1:202711876 KDM5B TTGTC>T	1	202711876	202711882	TTGTC	T	KDM5B	c.2485_2488del	NM_001314042.1	NP_001300971.1:p.(Asp829MetfsTer9)	NC_000001.10:g.202711879_202711882del	(Likely) pathogenic	1 lab	dd8397fffd
14:24730989 TGM1 T>C	14	24730989	24730989	T	C	TGM1	c.420A>G	NM_000359.3	NP_000350.1:p.(Ile140Met)	NC_000014.8:g.24730989T>C	(Likely) pathogenic	1 lab	f787a1e5ff
X:48369679 PORCN A>T	X	48369679	48369679	A	T	PORCN	c.137-4A>T	NM_203475.3	NP_982301.1:p.?	NC_000023.10:g.48369679A>T	(Likely) benign	1 lab	dd84fb1f37
16:1254272 CACNA1H C>T	16	1254272	1254272	C	T	CACNA1H	c.2265C>T	NM_021098.3	NP_066921.2:p.(Gly755=)	NC_000016.9:g.1254272C>T	(Likely) benign	1 lab	f7925afe02
2:179431880 TTN G>A	2	179431880	179431880	G	A	TTN	c.78979C>T	NM_001267550.1	NP_001254479.1:p.(Arg26327Ter)	NC_000002.11:g.179431880G>A	(Likely) pathogenic	1 lab	f79753bfda
1:228465031 OBSCN G>A	1	228465031	228465031	G	A	OBSCN	c.7879+17G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228465031G>A	(Likely) benign	1 lab	f79ac73e3f
1:43907225 SZT2 T>C	1	43907225	43907225	T	C	SZT2	c.7391T>C	NM_015284.4	NP_056099.3:p.(Val2464Ala)	NC_000001.10:g.43907225T>C	(Likely) benign	1 lab	f79c4e27e5
14:57268634 OTX2 T>A	14	57268634	57268634	T	A	OTX2	c.689A>T	NM_172337.3	NP_758840.1:p.(His230Leu)	NC_000014.8:g.57268634T>A	VUS	1 lab	dd8531f4a5
20:10628666 JAG1 G>T	20	10628666	10628666	G	T	JAG1	c.1662C>A	NM_000214.3	NP_000205.1:p.(Asp554Glu)	NC_000020.10:g.10628666G>T	VUS	1 lab	f7a306ed8d
17:17697685 RAI1 C>T	17	17697685	17697685	C	T	RAI1	c.1423C>T	NM_030665.4	NP_109590.3:p.(Gln475Ter)	NC_000017.10:g.17697685C>T	(Likely) pathogenic	1 lab	f7aa6457c4
2:179634553 TTN C>A	2	179634553	179634553	C	A	TTN	c.8617G>T	NM_133432.3	NP_597676.3:p.(Val2873Leu)	NC_000002.11:g.179634553C>A	VUS	1 lab	f7af772489
13:32951084 BRCA2 C>T	13	32951084	32951084	C	T	BRCA2	c.8754+156C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951084C>T	(Likely) benign	1 lab	f7b4b2b75e
11:32417669 WT1 A>T	11	32417669	32417669	A	T	WT1				NC_000011.9:g.32417669A>T	(Likely) benign	1 lab	f7b4e0cbb3
2:228173986 COL4A3 A>T	2	228173986	228173986	A	T	COL4A3	c.4707A>T	NM_000091.4	NP_000082.2:p.(Pro1569=)	NC_000002.11:g.228173986A>T	(Likely) benign	1 lab	f7b6011014
2:179429477 TTN G>A	2	179429477	179429477	G	A	TTN	c.81382C>T	NM_001267550.1	NP_001254479.1:p.(Gln27128Ter)	NC_000002.11:g.179429477G>A	(Likely) pathogenic	1 lab	f7b809cd35
15:44887544 SPG11 G>A	15	44887544	44887544	G	A	SPG11	c.4548C>T	NM_025137.4	NP_079413.3:p.(Asn1516=)	NC_000015.9:g.44887544G>A	(Likely) benign	1 lab	f7ba4596c0
15:29561625 NSMCE3 G>A	15	29561625	29561625	G	A	NSMCE3	c.285C>T	NM_138704.4	NP_619649.1:p.(Phe95=)	NC_000015.9:g.29561625G>A	(Likely) benign	1 lab	f7bb4d974c
7:151372599 PRKAG2 G>A	7	151372599	151372599	G	A	PRKAG2	c.591C>T	NM_016203.4	NP_057287.2:p.(Pro197=)	NC_000007.13:g.151372599G>A	(Likely) benign	1 lab	f7bc8c7362
3:128631481 ACAD9 G>A	3	128631481	128631481	G	A	ACAD9	c.*31G>A	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128631481G>A	(Likely) benign	1 lab	dd8e1e092e
6:7581455 DSP G>A	6	7581455	7581455	G	A	DSP	c.5032G>A	NM_004415.2	NP_004406.2:p.(Ala1678Thr)	NC_000006.11:g.7581455G>A	(Likely) pathogenic	1 lab	f7c57547ed
5:161309424 GABRA1 T>A	5	161309424	161309424	T	A	GABRA1	c.560-140T>A	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161309424T>A	(Likely) benign	1 lab	f7c61d1d66
11:48157616 PTPRJ C>T	11	48157616	48157616	C	T	PTPRJ	c.1641C>T	NM_002843.4	NP_002834.3:p.(His547=)	NC_000011.9:g.48157616C>T	(Likely) benign	1 lab	f7c9a2268c
11:2411734 CD81 C>T	11	2411734	2411734	C	T	CD81	c.159C>T	NM_004356.3	NP_004347.1:p.(Pro53=)	NC_000011.9:g.2411734C>T	(Likely) benign	1 lab	f7ca5dd451
16:188182 NPRL3 G>A	16	188182	188182	G	A	NPRL3	c.85C>T	NM_001077350.3	NP_001070818.1:p.(Gln29Ter)	NC_000016.9:g.188182G>A	(Likely) pathogenic	1 lab	f7ca9ac3ad
8:144996313 PLEC T>C	8	144996313	144996313	T	C	PLEC	c.7757A>G	NM_000445.5	NP_000436.2:p.(Gln2586Arg)	NC_000008.10:g.144996313T>C	VUS	1 lab	dd8f6107e4
19:13339417 CACNA1A GAGATAT>G	19	13339417	13339424	GAGATAT	G	CACNA1A	c.5529-1082_5529-1077del	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13339419_13339424del	(Likely) benign	1 lab	f7ce4278d7
7:36447459 ANLN G>A	7	36447459	36447459	G	A	ANLN	c.990G>A	NM_018685.5	NP_061155.2:p.(Ser330=)	NC_000007.13:g.36447459G>A	(Likely) benign	1 lab	f7cf87f020
19:7703594 STXBP2 C>T	19	7703594	7703594	C	T	STXBP2	c.38-18C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7703594C>T	(Likely) benign	1 lab	f7d1b8563f
2:168102774 XIRP2 G>T	2	168102774	168102774	G	T	XIRP2	c.4872G>T	NM_152381.6	NP_689594.4:p.(Leu1624Phe)	NC_000002.11:g.168102774G>T	(Likely) benign	1 lab	f7d6762c81
9:131369953 SPTAN1 G>A	9	131369953	131369953	G	A	SPTAN1	c.4117G>A	NM_001130438.2	NP_001123910.1:p.(Gly1373Arg)	NC_000009.11:g.131369953G>A	VUS	1 lab	f7e3275404
15:73615530 HCN4 C>T	15	73615530	73615530	C	T	HCN4	c.2904G>A	NM_005477.3	NP_005468.1:p.(Pro968=)	NC_000015.9:g.73615530C>T	(Likely) benign	1 lab	f7e87ef5ee
12:57626329 SHMT2 C>T	12	57626329	57626329	C	T	SHMT2	c.688C>T	NM_005412.6	NP_005403.2:p.(Arg230Cys)	NC_000012.11:g.57626329C>T	VUS	1 lab	dd908e45f4
2:179639725 TTN G>GT	2	179639725	179639726	G	GT	TTN	c.6712dup	NM_001267550.1	NP_001254479.1:p.(Thr2238AsnfsTer3)	NC_000002.11:g.179639726dup	(Likely) pathogenic	1 lab	f7f05b5288
2:152483525 NEB A>G	2	152483525	152483525	A	G	NEB	c.10338T>C	NM_001271208.1	NP_001258137.1:p.(Asn3446=)	NC_000002.11:g.152483525A>G	(Likely) benign	1 lab	f7f2ea5d63
1:158595842 SPTA1 C>A	1	158595842	158595842	C	A	SPTA1	c.5910+94G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158595842C>A	(Likely) benign	1 lab	f7f3908305
19:45860716 ERCC2 G>A	19	45860716	45860716	G	A	ERCC2	c.1377+16C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45860716G>A	(Likely) benign	1 lab	f7f7734e07
2:179431067 TTN A>T	2	179431067	179431067	A	T	TTN	c.52972T>A	NM_133432.3	NP_597676.3:p.(Leu17658Ile)	NC_000002.11:g.179431067A>T	VUS	1 lab	f7f9994976
12:6442653 TNFRSF1A T>C	12	6442653	6442653	T	C	TNFRSF1A	c.352A>G	NM_001065.3	NP_001056.1:p.(Thr118Ala)	NC_000012.11:g.6442653T>C	(Likely) pathogenic	1 lab	f7faba27ce
1:158639029 SPTA1 A>G	1	158639029	158639029	A	G	SPTA1	c.1833+169T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158639029A>G	(Likely) benign	1 lab	f7fbfe6194
1:214819882 CENPF A>G	1	214819882	214819882	A	G	CENPF	c.6969A>G	NM_016343.4	NP_057427.3:p.(Gln2323=)	NC_000001.10:g.214819882A>G	(Likely) benign	1 lab	f80160b77a
13:39343848 FREM2 G>A	13	39343848	39343848	G	A	FREM2	c.5544G>A	NM_207361.6	NP_997244.4:p.(Glu1848=)	NC_000013.10:g.39343848G>A	(Likely) benign	1 lab	f802648a68
9:6645272 GLDC T>C	9	6645272	6645272	T	C	GLDC	c.228A>G	NM_000170.2	NP_000161.2:p.(Arg76=)	NC_000009.11:g.6645272T>C	(Likely) benign	1 lab	f804b41b8c
X:153222208 HCFC1 G>T	X	153222208	153222208	G	T	HCFC1	c.2503C>A	NM_005334.3	NP_005325.2:p.(Leu835Ile)	NC_000023.10:g.153222208G>T	VUS	1 lab	dd956aadb2
5:90040759 ADGRV1 G>A	5	90040759	90040759	G	A	ADGRV1	c.10550-104G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90040759G>A	(Likely) benign	1 lab	f811a8c131
15:35083251 ACTC1 G>A	15	35083251	35083251	G	A	ACTC1	c.990+64C>T	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083251G>A	(Likely) benign	1 lab	f8147eabc4
5:169472888 DOCK2 T>C	5	169472888	169472888	T	C	DOCK2	c.3945T>C	NM_004946.3	NP_004937.1:p.(Tyr1315=)	NC_000005.9:g.169472888T>C	(Likely) benign	1 lab	f81d6da41c
9:311984 DOCK8 G>A	9	311984	311984	G	A	DOCK8	c.559G>A	NM_203447.3	NP_982272.2:p.(Asp187Asn)	NC_000009.11:g.311984G>A	(Likely) benign	1 lab	f995ec7892
1:26139392 SELENON A>G	1	26139392	26139392	A	G	SELENON	c.1387+109A>G	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139392A>G	(Likely) benign	1 lab	f81eadf2b5
2:227953336 COL4A4 T>C	2	227953336	227953336	T	C	COL4A4	c.1623+33A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227953336T>C	(Likely) benign	1 lab	f81f8df61f
1:237057876 MTR GC>G	1	237057876	237057878	GC	G	MTR	c.3405+21del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237057878del	(Likely) benign	1 lab	f822d4d1b6
9:139396881 NOTCH1 C>T	9	139396881	139396881	C	T	NOTCH1	c.5227G>A	NM_017617.5	NP_060087.3:p.(Ala1743Thr)	NC_000009.11:g.139396881C>T	VUS	1 lab	f8242c9d36
X:32486789 DMD T>C	X	32486789	32486789	T	C	DMD	c.2619A>G	NM_004010.3	NP_004001.1:p.(Leu873=)	NC_000023.10:g.32486789T>C	(Likely) benign	1 lab	f82808e269
9:27548433 C9orf72 GA>G	9	27548433	27548459	GA	G	C9orf72	c.1260-14del	NM_018325.5	NP_060795.1:p.?	NC_000009.11:g.27548459del	(Likely) benign	1 lab	f82edd6080
21:38132019 HLCS G>A	21	38132019	38132019	G	A	HLCS	c.1795+9C>T	NM_000411.8	NP_000402.3:p.?	NC_000021.8:g.38132019G>A	(Likely) benign	1 lab	f837c18916
15:40587129 PLCB2 G>A	15	40587129	40587129	G	A	PLCB2	c.1906+8C>T	NM_004573.3	NP_004564.2:p.?	NC_000015.9:g.40587129G>A	(Likely) benign	1 lab	f83c158850
20:62326113 RTEL1 A>C	20	62326113	62326113	A	C	RTEL1	c.2460A>C	NM_001283010.1	NP_001269939.1:p.(Pro820=)	NC_000020.10:g.62326113A>C	(Likely) benign	1 lab	f83ef4d248
9:141015253 CACNA1B G>A	9	141015253	141015253	G	A	CACNA1B	c.6409G>A	NM_000718.4	NP_000709.1:p.(Glu2137Lys)	NC_000009.11:g.141015253G>A	VUS	1 lab	dd9f6c0247
9:37424837 GRHPR C>T	9	37424837	37424837	C	T	GRHPR	c.84-5C>T	NM_012203.2	NP_036335.1:p.?	NC_000009.11:g.37424837C>T	(Likely) benign	1 lab	f83fa660e2
7:45104372 CCM2 C>T	7	45104372	45104372	C	T	CCM2	c.535+127C>T	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45104372C>T	(Likely) benign	1 lab	f8418feaaf
14:65239894 SPTB C>T	14	65239894	65239894	C	T	SPTB	c.5178+44G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65239894C>T	(Likely) benign	1 lab	f841c72773
9:141016262 CACNA1B T>A	9	141016262	141016262	T	A	CACNA1B	c.6831T>A	NM_000718.4	NP_000709.1:p.(Thr2277=)	NC_000009.11:g.141016262T>A	(Likely) benign	1 lab	f84445adf9
10:97959905 BLNK C>T	10	97959905	97959905	C	T	BLNK	c.1021G>A	NM_013314.3	NP_037446.1:p.(Val341Ile)	NC_000010.10:g.97959905C>T	(Likely) benign	1 lab	f84b10bc55
22:46742350 TRMU A>G	22	46742350	46742350	A	G	TRMU	c.387A>G	NM_018006.5	NP_060476.2:p.(Ala129=)	NC_000022.10:g.46742350A>G	(Likely) benign	1 lab	f84c18a9bb
17:44950086 WNT9B G>A	17	44950086	44950086	G	A	WNT9B	c.281G>A	NM_003396.3	NP_003387.1:p.(Arg94Gln)	NC_000017.10:g.44950086G>A	(Likely) benign	1 lab	f855f972ce
10:16883005 CUBN C>T	10	16883005	16883005	C	T	CUBN	c.9705G>A	NM_001081.3	NP_001072.2:p.(Thr3235=)	NC_000010.10:g.16883005C>T	(Likely) benign	1 lab	f859dd85ab
X:18646594 CDKL5 C>A	X	18646594	18646594	C	A	CDKL5	c.2600C>A	NM_001037343.1	NP_001032420.1:p.(Thr867Asn)	NC_000023.10:g.18646594C>A	(Likely) benign	1 lab	f85dc5ab5c
14:65216120 SPTB C>T	14	65216120	65216120	C	T	SPTB	c.6891G>A	NM_001024858.3	NP_001020029.1:p.(Ala2297=)	NC_000014.8:g.65216120C>T	(Likely) benign	1 lab	f85f4a3338
16:1250367 CACNA1H C>T	16	1250367	1250367	C	T	CACNA1H	c.915C>T	NM_021098.3	NP_066921.2:p.(Ile305=)	NC_000016.9:g.1250367C>T	(Likely) benign	1 lab	f860212df2
16:2547154 TBC1D24 G>A	16	2547154	2547154	G	A	TBC1D24	c.965+40G>A	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547154G>A	(Likely) benign	1 lab	f86250a657
17:6596497 SLC13A5 AACACACACACAC>A	17	6596497	6596549	AACACACACACAC	A	SLC13A5	c.1157-28_1157-17del	NM_177550.5	NP_808218.1:p.?	NC_000017.10:g.6596538_6596549del	(Likely) benign	1 lab	f86e5642a4
12:110034373 MVK T>C	12	110034373	110034373	T	C	MVK	c.1182T>C	NM_000431.2	NP_000422.1:p.(Asp394=)	NC_000012.11:g.110034373T>C	(Likely) benign	1 lab	f86f39f964
2:241812428 AGXT C>T	2	241812428	241812428	C	T	AGXT	c.557C>T	NM_000030.3	NP_000021.1:p.(Ala186Val)	NC_000002.11:g.241812428C>T	(Likely) benign	1 lab	f87249dcaa
7:66104003 KCTD7 C>T	7	66104003	66104003	C	T	KCTD7	c.654C>T	NM_153033.4	NP_694578.1:p.(Asp218=)	NC_000007.13:g.66104003C>T	(Likely) benign	1 lab	f879468271
16:3304519 MEFV C>T	16	3304519	3304519	C	T	MEFV	c.549G>A	NM_000243.2	NP_000234.1:p.(Pro183=)	NC_000016.9:g.3304519C>T	(Likely) benign	1 lab	f87addd998
1:185276662 IVNS1ABP T>C	1	185276662	185276662	T	C	IVNS1ABP	c.490A>G	NM_006469.5	NP_006460.2:p.(Ile164Val)	NC_000001.10:g.185276662T>C	(Likely) benign	1 lab	f87ef3f82b
15:31197773 FAN1 G>C	15	31197773	31197773	G	C	FAN1	c.907G>C	NM_014967.5	NP_055782.3:p.(Glu303Gln)	NC_000015.9:g.31197773G>C	(Likely) benign	1 lab	f88123db3f
1:160322970 NCSTN A>C	1	160322970	160322970	A	C	NCSTN	c.1122A>C	NM_015331.3	NP_056146.1:p.(Leu374Phe)	NC_000001.10:g.160322970A>C	(Likely) benign	1 lab	f882122866
3:184070507 CLCN2 C>G	3	184070507	184070507	C	G	CLCN2	c.2217+18G>C	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184070507C>G	(Likely) benign	1 lab	f88887f7f2
5:89925169 ADGRV1 T>C	5	89925169	89925169	T	C	ADGRV1	c.1652T>C	NM_032119.4	NP_115495.3:p.(Val551Ala)	NC_000005.9:g.89925169T>C	(Likely) benign	1 lab	f89651503d
16:1265375 CACNA1H G>C	16	1265375	1265375	G	C	CACNA1H	c.5173G>C	NM_021098.3	NP_066921.2:p.(Val1725Leu)	NC_000016.9:g.1265375G>C	VUS	1 lab	f89b3a57ab
5:79028777 CMYA5 G>A	5	79028777	79028777	G	A	CMYA5	c.4189G>A	NM_153610.5	NP_705838.3:p.(Gly1397Arg)	NC_000005.9:g.79028777G>A	VUS	1 lab	f89f7d6c04
11:406492 SIGIRR C>A	11	406492	406492	C	A	SIGIRR	c.926G>T	NM_021805.3	NP_068577.2:p.(Arg309Leu)	NC_000011.9:g.406492C>A	VUS	1 lab	dda20d2d41
2:73677998 ALMS1 A>G	2	73677998	73677998	A	G	ALMS1	c.4347A>G	NM_015120.4	NP_055935.4:p.(Leu1449=)	NC_000002.11:g.73677998A>G	(Likely) benign	1 lab	f8a5587143
5:161580430 GABRG2 T>C	5	161580430	161580430	T	C	GABRG2	c.*56T>C	NM_198903.2	NP_944493.2:p.?	NC_000005.9:g.161580430T>C	VUS	1 lab	f8a8a0c585
5:35072712 PRLR T>G	5	35072712	35072712	T	G	PRLR	c.508A>C	NM_000949.7	NP_000940.1:p.(Ile170Leu)	NC_000005.9:g.35072712T>G	(Likely) benign	1 lab	dda33d47b8
19:14865802 ADGRE2 G>C	19	14865802	14865802	G	C	ADGRE2	c.1554C>G	NM_013447.4	NP_038475.2:p.(Ser518Arg)	NC_000019.9:g.14865802G>C	(Likely) benign	1 lab	f953c220ee
15:93540592 CHD2 G>T	15	93540592	93540592	G	T	CHD2	c.3844G>T	NM_001271.4	NP_001262.3:p.(Glu1282Ter)	NC_000015.9:g.93540592G>T	(Likely) pathogenic	1 lab	f8bdbe722c
2:228012150 COL4A4 T>C	2	228012150	228012150	T	C	COL4A4	c.50A>G	NM_000092.4	NP_000083.3:p.(Lys17Arg)	NC_000002.11:g.228012150T>C	(Likely) benign	1 lab	f8cb276089
3:186302391 DNAJB11 A>T	3	186302391	186302391	A	T	DNAJB11	c.1012+13A>T	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391A>T	(Likely) benign	1 lab	f8cbb0de24
1:231471908 EXOC8 A>G	1	231471908	231471908	A	G	EXOC8	c.1584T>C	NM_175876.5	NP_787072.2:p.(His528=)	NC_000001.10:g.231471908A>G	(Likely) benign	1 lab	f8d1503af8
20:62311187 RTEL1 T>C	20	62311187	62311187	T	C	RTEL1	c.369-15T>C	NM_001283010.1	NP_001269939.1:p.?	NC_000020.10:g.62311187T>C	(Likely) benign	1 lab	f8d4dc6215
17:73728022 ITGB4 G>A	17	73728022	73728022	G	A	ITGB4	c.1345G>A	NM_000213.5	NP_000204.3:p.(Gly449Ser)	NC_000017.10:g.73728022G>A	(Likely) benign	1 lab	f8d7bcec12
3:49160626 LAMB2 C>T	3	49160626	49160626	C	T	LAMB2	c.4163G>A	NM_002292.4	NP_002283.3:p.(Arg1388Gln)	NC_000003.11:g.49160626C>T	(Likely) benign	1 lab	f8e21d326e
2:166183444 SCN2A C>G	2	166183444	166183444	C	G	SCN2A	c.2099C>G	NM_021007.3	NP_066287.2:p.(Ser700Ter)	NC_000002.11:g.166183444C>G	(Likely) pathogenic	1 lab	f8ea0bfef2
20:62103904 KCNQ2 C>A	20	62103904	62103904	C	A	KCNQ2	c.-88G>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62103904C>A	(Likely) benign	1 lab	f941781002
2:47300945 TTC7A C>T	2	47300945	47300945	C	T	TTC7A	c.2532C>T	NM_001288951.2	NP_001275880.1:p.(Gly844=)	NC_000002.11:g.47300945C>T	(Likely) benign	1 lab	f8edd05afc
16:67692561 ACD G>A	16	67692561	67692561	G	A	ACD	c.743-17C>T	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67692561G>A	(Likely) benign	1 lab	f8ee0335f0
13:32903724 BRCA2 C>T	13	32903724	32903724	C	T	BRCA2	c.681+95C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903724C>T	(Likely) benign	1 lab	f8fd8d6f98
2:234627668 UGT1A4 C>T	2	234627668	234627668	C	T	UGT1A4	c.202C>T	NM_007120.3	NP_009051.1:p.(His68Tyr)	NC_000002.11:g.234627668C>T	(Likely) benign	1 lab	f8fe93b754
14:64606801 SYNE2 A>G	14	64606801	64606801	A	G	SYNE2	c.14976+10A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64606801A>G	(Likely) benign	1 lab	f945466624
6:107515072 PDSS2 G>C	6	107515072	107515072	G	C	PDSS2	c.1009-14C>G	NM_020381.4	NP_065114.3:p.?	NC_000006.11:g.107515072G>C	(Likely) benign	1 lab	f90af9c6ab
1:63018469 DOCK7 G>A	1	63018469	63018469	G	A	DOCK7	c.2700C>T	NM_001330614.1	NP_001317543.1:p.(Ser900=)	NC_000001.10:g.63018469G>A	(Likely) benign	1 lab	f90c8db001
1:11851219 MTHFR C>T	1	11851219	11851219	C	T	MTHFR	c.1752+45G>A	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11851219C>T	(Likely) benign	1 lab	f90e90d068
14:69347626 ACTN1 G>A	14	69347626	69347626	G	A	ACTN1	c.2034C>T	NM_001130004.1	NP_001123476.1:p.(Ile678=)	NC_000014.8:g.69347626G>A	(Likely) benign	1 lab	f913b9c117
16:1270866 CACNA1H A>G	16	1270866	1270866	A	G	CACNA1H	c.6934A>G	NM_021098.3	NP_066921.2:p.(Met2312Val)	NC_000016.9:g.1270866A>G	(Likely) benign	1 lab	f9144f75b1
13:32913365 BRCA2 G>GA	13	32913365	32913369	G	GA	BRCA2	c.4877dup	NM_000059.3	NP_000050.2:p.(Asn1626LysfsTer13)	NC_000013.10:g.32913369dup	(Likely) pathogenic	1 lab	f917fd2d45
21:47417578 COL6A1 A>G	21	47417578	47417578	A	G	COL6A1	c.1462-36A>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47417578A>G	(Likely) benign	1 lab	f919afb42a
16:3304759 MEFV A>G	16	3304759	3304759	A	G	MEFV	c.309T>C	NM_000243.2	NP_000234.1:p.(Asp103=)	NC_000016.9:g.3304759A>G	(Likely) benign	1 lab	f91d6d562f
1:62737205 KANK4 G>A	1	62737205	62737205	G	A	KANK4	c.1957C>T	NM_181712.5	NP_859063.3:p.(Arg653Cys)	NC_000001.10:g.62737205G>A	(Likely) benign	1 lab	f92613be84
7:82785719 PCLO TA>T	7	82785719	82785736	TA	T	PCLO	c.249-12del	NM_033026.6	NP_149015.2:p.?	NC_000007.13:g.82785736del	(Likely) benign	1 lab	ddb520d956
2:179410536 TTN T>C	2	179410536	179410536	T	C	TTN	c.95416+11A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179410536T>C	(Likely) benign	1 lab	ddb6941825
16:3293424 MEFV T>A	16	3293424	3293424	T	A	MEFV	c.2063A>T	NM_000243.2	NP_000234.1:p.(Tyr688Phe)	NC_000016.9:g.3293424T>A	(Likely) pathogenic	1 lab	f936bd7e03
4:114244917 ANK2 G>A	4	114244917	114244917	G	A	ANK2	c.2840G>A	NM_001127493.1	NP_001120965.1:p.(Arg947His)	NC_000004.11:g.114244917G>A	(Likely) benign	1 lab	f938bc03b3
17:78155396 CARD14 C>T	17	78155396	78155396	C	T	CARD14	c.159C>T	NM_024110.4	NP_077015.2:p.(Asp53=)	NC_000017.10:g.78155396C>T	(Likely) benign	1 lab	f93bad177e
X:52895579 XAGE3 GGTGT>G	X	52895579	52895606	GGTGT	G	XAGE3	c.82-16_82-13del	NM_133179.3	NP_573440.1:p.?	NC_000023.10:g.52895603_52895606del	(Likely) benign	1 lab	f93d6de23d
11:36589684 RAG1 A>G	11	36589684	36589684	A	G	RAG1	c.-15+12A>G	NM_000448.2	NP_000439.1:p.?	NC_000011.9:g.36589684A>G	(Likely) benign	1 lab	f94a4a13e2
22:32239739 DEPDC5 G>A	22	32239739	32239739	G	A	DEPDC5	c.2742G>A	NM_001242896.3	NP_001229825.1:p.(Glu914=)	NC_000022.10:g.32239739G>A	(Likely) benign	1 lab	f94dde63b0
20:30662537 HCK T>C	20	30662537	30662537	T	C	HCK	c.368+13T>C	NM_001172132.2	NP_001165603.1:p.?	NC_000020.10:g.30662537T>C	(Likely) benign	1 lab	f9508800c2
7:103294660 RELN A>G	7	103294660	103294660	A	G	RELN	c.1442-8T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103294660A>G	(Likely) benign	1 lab	f953a809ab
18:43496536 EPG5 T>TGA	18	43496536	43496538	T	TGA	EPG5	c.3250_3251insTC	NM_020964.3	NP_066015.2:p.(His1084LeufsTer29)	NC_000018.9:g.43496537_43496538insAG	(Likely) pathogenic	1 lab	f953c305f1
16:1268022 CACNA1H C>T	16	1268022	1268022	C	T	CACNA1H	c.5427C>T	NM_021098.3	NP_066921.2:p.(Asn1809=)	NC_000016.9:g.1268022C>T	(Likely) benign	1 lab	f953e12a24
9:137646188 COL5A1 G>A	9	137646188	137646188	G	A	COL5A1	c.1827+16G>A	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137646188G>A	(Likely) benign	1 lab	f9556b9947
10:75394401 MYOZ1 C>G	10	75394401	75394401	C	G	MYOZ1	c.343G>C	NM_021245.4	NP_067068.1:p.(Gly115Arg)	NC_000010.10:g.75394401C>G	VUS	1 lab	f956d0af42
16:3304366 MEFV G>C	16	3304366	3304366	G	C	MEFV	c.702C>G	NM_000243.2	NP_000234.1:p.(Pro234=)	NC_000016.9:g.3304366G>C	(Likely) benign	1 lab	f959e15670
7:95818683 SLC25A13 TCATA>T	7	95818683	95818688	TCATA	T	SLC25A13	c.852_855del	NM_001160210.1	NP_001153682.1:p.(Met285ProfsTer2)	NC_000007.13:g.95818685_95818688del	(Likely) pathogenic	1 lab	ddb7315043
17:42427892 GRN C>T	17	42427892	42427892	C	T	GRN	c.545C>T	NM_002087.2	NP_002078.1:p.(Thr182Met)	NC_000017.10:g.42427892C>T	(Likely) benign	1 lab	f95c1e658c
14:67432052 GPHN G>A	14	67432052	67432052	G	A	GPHN	c.963+10G>A	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67432052G>A	(Likely) benign	1 lab	f963755d56
6:36652078 CDKN1A G>T	6	36652078	36652078	G	T	CDKN1A	c.200G>T	NM_001220778.2	NP_001207707.1:p.(Arg67Leu)	NC_000006.11:g.36652078G>T	(Likely) pathogenic	1 lab	f96525ce06
2:179426445 TTN G>A	2	179426445	179426445	G	A	TTN	c.84414C>T	NM_001267550.1	NP_001254479.1:p.(Ser28138=)	NC_000002.11:g.179426445G>A	(Likely) benign	1 lab	f9660b6162
2:39239389 SOS1 A>C	2	39239389	39239389	A	C	SOS1	c.2268T>G	NM_005633.3	NP_005624.2:p.(Ser756Arg)	NC_000002.11:g.39239389A>C	(Likely) benign	1 lab	f96a8e3d10
13:39422845 FREM2 T>G	13	39422845	39422845	T	G	FREM2	c.6379+38T>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39422845T>G	(Likely) benign	1 lab	f96bc45962
19:39219050 ACTN4 G>GCTCCTC	19	39219050	39219090	G	GCTCCTC	ACTN4	c.2418+419_2418+424dup	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39219085_39219090dup	(Likely) benign	1 lab	f96bec5a95
6:56420320 DST A>G	6	56420320	56420320	A	G	DST	c.14959T>C	NM_001374736.1	NP_001361665.1:p.(Leu4987=)	NC_000006.11:g.56420320A>G	(Likely) benign	1 lab	f96dd4d461
3:107937514 IFT57 G>GA	3	107937514	107937520	G	GA	IFT57	c.376-15dup	NM_018010.4	NP_060480.1:p.?	NC_000003.11:g.107937520dup	(Likely) benign	1 lab	f976a9e3cc
2:189916878 COL5A2 G>A	2	189916878	189916878	G	A	COL5A2	c.2769+20C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189916878G>A	(Likely) benign	1 lab	f978543c66
5:131729379 SLC22A5 C>T	5	131729379	131729379	C	T	SLC22A5	c.1462C>T	NM_003060.4	NP_003051.1:p.(Arg488Cys)	NC_000005.9:g.131729379C>T	(Likely) pathogenic	1 lab	f9786aff51
2:166903440 SCN1A A>G	2	166903440	166903440	A	G	SCN1A	c.1217T>C	NM_001202435.3	NP_001189364.1:p.(Val406Ala)	NC_000002.11:g.166903440A>G	(Likely) pathogenic	1 lab	f978e6aa10
18:28666717 DSC2 A>C	18	28666717	28666717	A	C	DSC2				NC_000018.9:g.28666717A>C	(Likely) benign	1 lab	f97b076d45
7:27211781 HOXA10 C>G	7	27211781	27211781	C	G	HOXA10	c.970G>C	NM_018951.4	NP_061824.3:p.(Gly324Arg)	NC_000007.13:g.27211781C>G	(Likely) benign	1 lab	f981ceb35d
1:228461999 OBSCN C>T	1	228461999	228461999	C	T	OBSCN	c.6662C>T	NM_001271223.2	NP_001258152.2:p.(Thr2221Met)	NC_000001.10:g.228461999C>T	(Likely) benign	1 lab	f985c8ad65
15:85370710 ALPK3 C>T	15	85370710	85370710	C	T	ALPK3	c.789-5C>T	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85370710C>T	(Likely) benign	1 lab	f988dc06c6
7:128483551 FLNC A>G	7	128483551	128483551	A	G	FLNC	c.2731A>G	NM_001458.4	NP_001449.3:p.(Lys911Glu)	NC_000007.13:g.128483551A>G	VUS	1 lab	f98b01059f
14:23888748 MYH7 G>C	14	23888748	23888748	G	C	MYH7	c.3797C>G	NM_000257.2	NP_000248.2:p.(Thr1266Ser)	NC_000014.8:g.23888748G>C	VUS	1 lab	f98b668bbf
4:57337866 SRP72 G>GT	4	57337866	57337875	G	GT	SRP72	c.231-11dup	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57337875dup	(Likely) benign	1 lab	f993044b02
5:176665256 NSD1 G>T	5	176665256	176665256	G	T	NSD1	c.3940G>T	NM_022455.4	NP_071900.2:p.(Glu1314Ter)	NC_000005.9:g.176665256G>T	(Likely) pathogenic	1 lab	f993f5c439
5:13920594 DNAH5 C>T	5	13920594	13920594	C	T	DNAH5	c.793G>A	NM_001369.3	NP_001360.1:p.(Glu265Lys)	NC_000005.9:g.13920594C>T	VUS	1 lab	ddba0f4066
3:3170889 TRNT1 C>T	3	3170889	3170889	C	T	TRNT1	c.148+17C>T	NM_182916.3	NP_886552.3:p.?	NC_000003.11:g.3170889C>T	(Likely) benign	1 lab	f99a216d16
10:102541113 PAX2 C>T	10	102541113	102541113	C	T	PAX2	c.607C>T	NM_003988.5	NP_003979.2:p.(Arg203Cys)	NC_000010.10:g.102541113C>T	VUS	1 lab	f99f41703c
2:227963534 COL4A4 A>C	2	227963534	227963534	A	C	COL4A4	c.1100-20T>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227963534A>C	VUS	1 lab	f9a46e84fb
1:209968684 IRF6 C>A	1	209968684	209968684	C	A	IRF6	c.459G>T	NM_006147.4	NP_006138.1:p.(Ser153=)	NC_000001.10:g.209968684C>A	(Likely) benign	1 lab	ddbbbaa733
11:64026024 PLCB3 C>T	11	64026024	64026024	C	T	PLCB3	c.1092C>T	NM_000932.3	NP_000923.1:p.(Asp364=)	NC_000011.9:g.64026024C>T	(Likely) benign	1 lab	f9a5f69c57
19:2116627 AP3D1 C>A	19	2116627	2116627	C	A	AP3D1	c.1978G>T	NM_001261826.3	NP_001248755.1:p.(Ala660Ser)	NC_000019.9:g.2116627C>A	(Likely) benign	1 lab	f9a6aca013
2:220284957 DES G>A	2	220284957	220284957	G	A	DES	c.640-16G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220284957G>A	(Likely) benign	1 lab	f9a9b6506e
20:61981578 CHRNA4 C>T	20	61981578	61981578	C	T	CHRNA4	c.1185G>A	NM_000744.6	NP_000735.1:p.(Thr395=)	NC_000020.10:g.61981578C>T	(Likely) benign	1 lab	f9ac14749e
15:77327923 PSTPIP1 G>T	15	77327923	77327923	G	T	PSTPIP1	c.985+19G>T	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77327923G>T	(Likely) benign	1 lab	f9b24f6401
9:35060955 VCP T>C	9	35060955	35060955	T	C	VCP	c.1360-35A>G	NM_007126.3	NP_009057.1:p.?	NC_000009.11:g.35060955T>C	(Likely) benign	1 lab	f9b87499bf
15:42693833 CAPN3 G>A	15	42693833	42693833	G	A	CAPN3	c.1355-6G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42693833G>A	(Likely) benign	1 lab	f9ba51fa61
14:102474286 DYNC1H1 G>C	14	102474286	102474286	G	C	DYNC1H1	c.5818-229G>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102474286G>C	(Likely) benign	1 lab	f9bd622b4b
8:90982730 NBN G>A	8	90982730	90982730	G	A	NBN	c.758C>T	NM_002485.4	NP_002476.2:p.(Thr253Ile)	NC_000008.10:g.90982730G>A	(Likely) benign	1 lab	f9be1d4229
16:30199403 CORO1A C>T	16	30199403	30199403	C	T	CORO1A	c.1002C>T	NM_007074.4	NP_009005.1:p.(Ile334=)	NC_000016.9:g.30199403C>T	(Likely) benign	1 lab	f9be485ced
10:97960801 BLNK C>T	10	97960801	97960801	C	T	BLNK	c.948G>A	NM_013314.3	NP_037446.1:p.(Gly316=)	NC_000010.10:g.97960801C>T	(Likely) benign	1 lab	f9c0c2c170
X:154124467 F8 G>A	X	154124467	154124467	G	A	F8	c.6314C>T	NM_000132.3	NP_000123.1:p.(Thr2105Ile)	NC_000023.10:g.154124467G>A	(Likely) pathogenic	1 lab	f9c184baa1
6:7584573 DSP G>A	6	7584573	7584573	G	A	DSP	c.7078G>A	NM_004415.2	NP_004406.2:p.(Glu2360Lys)	NC_000006.11:g.7584573G>A	VUS	1 lab	f9cd319b23
7:154598707 DPP6 C>T	7	154598707	154598707	C	T	DPP6	c.1551C>T	NM_130797.4	NP_570629.2:p.(Ala517=)	NC_000007.13:g.154598707C>T	(Likely) benign	1 lab	f9d423ca32
20:62076139 KCNQ2 T>C	20	62076139	62076139	T	C	KCNQ2	c.563A>G	NM_172107.4	NP_742105.1:p.(Gln188Arg)	NC_000020.10:g.62076139T>C	(Likely) benign	1 lab	f9d615e046
19:50365046 PNKP G>A	19	50365046	50365046	G	A	PNKP	c.1281C>T	NM_007254.4	NP_009185.2:p.(Asp427=)	NC_000019.9:g.50365046G>A	(Likely) benign	1 lab	f9d6f1ba72
16:3304778 MEFV T>C	16	3304778	3304778	T	C	MEFV	c.290A>G	NM_000243.2	NP_000234.1:p.(Gln97Arg)	NC_000016.9:g.3304778T>C	VUS	1 lab	f9d8235bb8
2:204591339 CD28 A>AT	2	204591339	204591348	A	AT	CD28	c.53-8dup	NM_006139.4	NP_006130.1:p.?	NC_000002.11:g.204591348dup	(Likely) benign	1 lab	f9db811607
6:32797167 TAP2 C>T	6	32797167	32797167	C	T	TAP2	c.1932+10G>A	NM_000544.3	NP_000535.3:p.?	NC_000006.11:g.32797167C>T	(Likely) benign	1 lab	f9dbefe124
1:237817608 RYR2 A>G	1	237817608	237817608	A	G	RYR2	c.7859A>G	NM_001035.3	NP_001026.2:p.(Tyr2620Cys)	NC_000001.10:g.237817608A>G	VUS	1 lab	f9dfe0f9ba
11:118971076 DPAGT1 C>G	11	118971076	118971076	C	G	DPAGT1	c.539G>C	NM_001382.4	NP_001373.2:p.(Cys180Ser)	NC_000011.9:g.118971076C>G	(Likely) pathogenic	1 lab	f9eb3bb459
14:65239772 SPTB G>A	14	65239772	65239772	G	A	SPTB	c.5179-100C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65239772G>A	(Likely) benign	1 lab	f9ed79cbec
7:55241721 EGFR C>T	7	55241721	55241721	C	T	EGFR	c.2169C>T	NM_005228.5	NP_005219.2:p.(Phe723=)	NC_000007.13:g.55241721C>T	(Likely) benign	1 lab	ddbfbd7fbc
4:2834112 SH3BP2 C>T	4	2834112	2834112	C	T	SH3BP2	c.1461C>T	NM_003023.4	NP_003014.3:p.(Ile487=)	NC_000004.11:g.2834112C>T	(Likely) benign	1 lab	f9f7e5629e
7:77648647 MAGI2 C>T	7	77648647	77648647	C	T	MAGI2	c.4353G>A	NM_012301.4	NP_036433.2:p.(Ser1451=)	NC_000007.13:g.77648647C>T	(Likely) benign	1 lab	f9f9a81b9e
12:6443277 TNFRSF1A C>T	12	6443277	6443277	C	T	TNFRSF1A	c.173G>A	NM_001065.3	NP_001056.1:p.(Cys58Tyr)	NC_000012.11:g.6443277C>T	(Likely) pathogenic	1 lab	f9fce0a034
13:32893467 BRCA2 G>A	13	32893467	32893467	G	A	BRCA2	c.316+5G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893467G>A	(Likely) pathogenic	1 lab	fa01b8af9f
15:89392745 ACAN T>C	15	89392745	89392745	T	C	ACAN	c.1809T>C	NM_013227.4	NP_037359.3:p.(Ala603=)	NC_000015.9:g.89392745T>C	(Likely) benign	1 lab	ddc5bb3943
3:32200356 GPD1L T>C	3	32200356	32200356	T	C	GPD1L	c.619-12T>C	NM_015141.3	NP_055956.1:p.?	NC_000003.11:g.32200356T>C	(Likely) benign	1 lab	fa067dcbc1
11:108197003 ATM C>A	11	108197003	108197003	C	A	ATM	c.6975+51C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108197003C>A	(Likely) benign	1 lab	fa0be439b4
20:36031638 SRC G>A	20	36031638	36031638	G	A	SRC	c.1467G>A	NM_005417.4	NP_005408.1:p.(Glu489=)	NC_000020.10:g.36031638G>A	(Likely) benign	1 lab	fa0c9e0337
16:85691174 GSE1 C>T	16	85691174	85691174	C	T	GSE1	c.1292C>T	NM_001134473.3	NP_001127945.1:p.(Pro431Leu)	NC_000016.9:g.85691174C>T	VUS	1 lab	ddc917cbe7
17:41199612 BRCA1 C>A	17	41199612	41199612	C	A	BRCA1	c.5467+48G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199612C>A	(Likely) benign	1 lab	fa11cf29ab
4:166964484 TLL1 T>G	4	166964484	166964484	T	G	TLL1	c.1437T>G	NM_012464.5	NP_036596.3:p.(Pro479=)	NC_000004.11:g.166964484T>G	(Likely) benign	1 lab	fa159cfb81
4:186435939 PDLIM3 G>T	4	186435939	186435939	G	T	PDLIM3	c.436C>A	NM_001114107.5	NP_001107579.1:p.(Pro146Thr)	NC_000004.11:g.186435939G>T	VUS	1 lab	fa1813d8a8
12:114832565 TBX5 G>GT	12	114832565	114832566	G	GT	TBX5	c.643dup	NM_000192.3	NP_000183.2:p.(Thr215AsnfsTer14)	NC_000012.11:g.114832566dup	(Likely) pathogenic	1 lab	fa18b88213
12:110017800 MVK A>G	12	110017800	110017800	A	G	MVK	c.371+49A>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017800A>G	(Likely) benign	1 lab	fa19c75d03
2:230663700 TRIP12 A>G	2	230663700	230663700	A	G	TRIP12	c.3148T>C	NM_004238.3	NP_004229.1:p.(Trp1050Arg)	NC_000002.11:g.230663700A>G	VUS	1 lab	ddc9e6dded
13:52515247 ATP7B C>T	13	52515247	52515247	C	T	ATP7B	c.3526G>A	NM_000053.4	NP_000044.2:p.(Gly1176Arg)	NC_000013.10:g.52515247C>T	(Likely) pathogenic	1 lab	fa1b193f5b
10:75834528 VCL A>G	10	75834528	75834528	A	G	VCL	c.650A>G	NM_014000.2	NP_054706.1:p.(Asn217Ser)	NC_000010.10:g.75834528A>G	(Likely) benign	1 lab	fa1eec6af9
X:32717332 DMD A>G	X	32717332	32717332	A	G	DMD	c.359T>C	NM_004010.3	NP_004001.1:p.(Val120Ala)	NC_000023.10:g.32717332A>G	(Likely) benign	1 lab	fa235765ca
2:31610780 XDH C>T	2	31610780	31610780	C	T	XDH	c.565-17G>A	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31610780C>T	(Likely) benign	1 lab	fa255ef21f
2:166245713 SCN2A T>C	2	166245713	166245713	T	C	SCN2A	c.5397T>C	NM_021007.3	NP_066287.2:p.(Tyr1799=)	NC_000002.11:g.166245713T>C	(Likely) benign	1 lab	fa26b09349
3:190347152 IL1RAP A>C	3	190347152	190347152	A	C	IL1RAP	c.916A>C	NM_001167931.2	NP_001161403.1:p.(Arg306=)	NC_000003.11:g.190347152A>C	(Likely) benign	1 lab	fa26b63c0f
11:65307750 LTBP3 G>A	11	65307750	65307750	G	A	LTBP3	c.3210C>T	NM_001130144.2	NP_001123616.1:p.(Pro1070=)	NC_000011.9:g.65307750G>A	(Likely) benign	1 lab	fa282381e6
19:13373411 CACNA1A A>T	19	13373411	13373411	A	T	CACNA1A	c.4101+137T>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13373411A>T	(Likely) benign	1 lab	fa29c08ef4
6:7586075 DSP T>C	6	7586075	7586075	T	C	DSP	c.8580T>C	NM_004415.2	NP_004406.2:p.(Tyr2860=)	NC_000006.11:g.7586075T>C	(Likely) benign	1 lab	fa2b5264b3
12:110017604 MVK C>G	12	110017604	110017604	C	G	MVK	c.227-3C>G	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017604C>G	(Likely) pathogenic	1 lab	fa2c663161
5:127714472 FBN2 G>C	5	127714472	127714472	G	C	FBN2	c.1715C>G	NM_001999.4	NP_001990.2:p.(Ala572Gly)	NC_000005.9:g.127714472G>C	VUS	1 lab	fa2f665ac8
6:7579839 DSP A>G	6	7579839	7579839	A	G	DSP	c.3416A>G	NM_004415.2	NP_004406.2:p.(Tyr1139Cys)	NC_000006.11:g.7579839A>G	VUS	1 lab	fa2ff5d161
X:133609219 HPRT1 G>A	X	133609219	133609219	G	A	HPRT1	c.143G>A	NM_000194.3	NP_000185.1:p.(Arg48His)	NC_000023.10:g.133609219G>A	(Likely) pathogenic	1 lab	fa37e911e3
19:38948720 RYR1 C>A	19	38948720	38948720	C	A	RYR1	c.1955C>A	NM_000540.2	NP_000531.2:p.(Ala652Glu)	NC_000019.9:g.38948720C>A	(Likely) pathogenic	1 lab	fa3d4224d1
21:35255846 ITSN1 C>A	21	35255846	35255846	C	A	ITSN1	c.4555-8C>A	NM_003024.3	NP_003015.2:p.?	NC_000021.8:g.35255846C>A	(Likely) benign	1 lab	fa3dba9093
12:42862649 PRICKLE1 T>G	12	42862649	42862649	T	G	PRICKLE1	c.385-18A>C	NM_153026.3	NP_694571.2:p.?	NC_000012.11:g.42862649T>G	(Likely) benign	1 lab	fa41c5ec19
2:31606670 XDH G>A	2	31606670	31606670	G	A	XDH	c.837C>T	NM_000379.4	NP_000370.2:p.(Val279=)	NC_000002.11:g.31606670G>A	(Likely) benign	1 lab	fbfda686b1
17:440338 VPS53 C>A	17	440338	440338	C	A	VPS53	c.1945G>T	NM_001128159.3	NP_001121631.1:p.(Val649Phe)	NC_000017.10:g.440338C>A	VUS	1 lab	ddcaaa761c
2:179574369 TTN G>A	2	179574369	179574369	G	A	TTN	c.28677C>T	NM_001267550.1	NP_001254479.1:p.(Asn9559=)	NC_000002.11:g.179574369G>A	(Likely) benign	1 lab	fa42f9b135
5:14498623 TRIO C>T	5	14498623	14498623	C	T	TRIO	c.8211-5C>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14498623C>T	(Likely) benign	1 lab	fa4622cb67
4:187538239 FAT1 T>C	4	187538239	187538239	T	C	FAT1	c.8995A>G	NM_005245.4	NP_005236.2:p.(Thr2999Ala)	NC_000004.11:g.187538239T>C	(Likely) benign	1 lab	fa4b027138
5:161318046 GABRA1 A>G	5	161318046	161318046	A	G	GABRA1	c.846A>G	NM_001127644.2	NP_001121116.1:p.(Arg282=)	NC_000005.9:g.161318046A>G	(Likely) benign	1 lab	fa4eb3bedf
22:32211339 DEPDC5 C>G	22	32211339	32211339	C	G	DEPDC5	c.1666+141C>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32211339C>G	(Likely) benign	1 lab	fa4f5c5745
9:98669491 ERCC6L2 G>A	9	98669491	98669491	G	A	ERCC6L2				NC_000009.11:g.98669491G>A	(Likely) benign	1 lab	fa50a712dd
1:247587744 NLRP3 C>A	1	247587744	247587744	C	A	NLRP3	c.993C>A	NM_001243133.2	NP_001230062.1:p.(Ser331Arg)	NC_000001.10:g.247587744C>A	(Likely) pathogenic	1 lab	fa5404e8cc
14:65245962 SPTB A>G	14	65245962	65245962	A	G	SPTB	c.4476T>C	NM_001024858.3	NP_001020029.1:p.(Leu1492=)	NC_000014.8:g.65245962A>G	(Likely) benign	1 lab	fa5491d2b6
11:4095728 STIM1 C>A	11	4095728	4095728	C	A	STIM1	c.792-4C>A	NM_001277961.1	NP_001264890.1:p.?	NC_000011.9:g.4095728C>A	(Likely) benign	1 lab	fa54cefe0d
1:237777403 RYR2 C>T	1	237777403	237777403	C	T	RYR2	c.4975C>T	NM_001035.3	NP_001026.2:p.(Arg1659Trp)	NC_000001.10:g.237777403C>T	VUS	1 lab	fa54e97baa
15:45656217 GATM A>G	15	45656217	45656217	A	G	GATM	c.1043-3T>C	NM_001482.3	NP_001473.1:p.?	NC_000015.9:g.45656217A>G	(Likely) benign	1 lab	fa54fb346f
2:241815414 AGXT C>T	2	241815414	241815414	C	T	AGXT	c.839C>T	NM_000030.3	NP_000021.1:p.(Ala280Val)	NC_000002.11:g.241815414C>T	(Likely) benign	1 lab	fa5547f750
12:32906869 YARS2 C>T	12	32906869	32906869	C	T	YARS2	c.930G>A	NM_001040436.3	NP_001035526.1:p.(Pro310=)	NC_000012.11:g.32906869C>T	(Likely) benign	1 lab	fa5cc0ff0c
4:190878597 FRG1 C>T	4	190878597	190878597	C	T	FRG1	c.477C>T	NM_004477.3	NP_004468.1:p.(Cys159=)	NC_000004.11:g.190878597C>T	(Likely) benign	1 lab	ddcccfc726
14:102445607 DYNC1H1 T>C	14	102445607	102445607	T	C	DYNC1H1	c.345-49T>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102445607T>C	(Likely) benign	1 lab	fa601472a9
X:12938693 TLR8 C>T	X	12938693	12938693	C	T	TLR8	c.1534C>T	NM_138636.5	NP_619542.1:p.(Leu512=)	NC_000023.10:g.12938693C>T	(Likely) benign	1 lab	fa614bbd34
8:67986530 CSPP1 A>T	8	67986530	67986530	A	T	CSPP1	c.151A>T	NM_024790.6	NP_079066.5:p.(Arg51Ter)	NC_000008.10:g.67986530A>T	(Likely) pathogenic	1 lab	fa6394fe88
17:33428290 RAD51D A>G	17	33428290	33428290	A	G	RAD51D	c.833T>C	NM_002878.4	NP_002869.3:p.(Leu278Pro)	NC_000017.10:g.33428290A>G	VUS	1 lab	ddcec611ec
17:75489160 SEPTIN9 T>A	17	75489160	75489160	T	A	SEPTIN9	c.1519+2T>A	NM_006640.4	NP_006631.2:p.?	NC_000017.10:g.75489160T>A	(Likely) pathogenic	1 lab	fa6776921d
16:3304662 MEFV C>T	16	3304662	3304662	C	T	MEFV	c.406G>A	NM_000243.2	NP_000234.1:p.(Gly136Arg)	NC_000016.9:g.3304662C>T	VUS	1 lab	fa6ae48849
6:7580999 DSP A>G	6	7580999	7580999	A	G	DSP	c.4576A>G	NM_004415.2	NP_004406.2:p.(Asn1526Asp)	NC_000006.11:g.7580999A>G	(Likely) benign	1 lab	fa70da8438
2:47630550 MSH2 C>A	2	47630550	47630550	C	A	MSH2	c.211+9C>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47630550C>A	(Likely) benign	1 lab	fa723a5956
12:110029110 MVK T>C	12	110029110	110029110	T	C	MVK	c.833T>C	NM_000431.2	NP_000422.1:p.(Val278Ala)	NC_000012.11:g.110029110T>C	(Likely) pathogenic	1 lab	fa75ef9c1b
1:32740393 LCK C>G	1	32740393	32740393	C	G	LCK	c.161C>G	NM_005356.5	NP_005347.3:p.(Ser54Cys)	NC_000001.10:g.32740393C>G	(Likely) benign	1 lab	fa7657c878
21:47409113 COL6A1 C>T	21	47409113	47409113	C	T	COL6A1	c.858+62C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47409113C>T	(Likely) benign	1 lab	fa9747ace0
X:153760408 G6PD A>G	X	153760408	153760408	A	G	G6PD	c.1452T>C	NM_001042351.2	NP_001035810.1:p.(Tyr484=)	NC_000023.10:g.153760408A>G	(Likely) benign	1 lab	fa7bd4cf94
11:33743962 CD59 G>A	11	33743962	33743962	G	A	CD59	c.30C>T	NM_203330.2	NP_976075.1:p.(Phe10=)	NC_000011.9:g.33743962G>A	(Likely) benign	1 lab	fa7cd711f3
15:41364265 INO80 T>TA	15	41364265	41364279	T	TA	INO80	c.1396-10dup	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41364279dup	(Likely) benign	1 lab	fa80c16b93
2:152362703 NEB G>A	2	152362703	152362703	G	A	NEB	c.23731C>T	NM_001271208.2	NP_001258137.2:p.(Gln7911Ter)	NC_000002.11:g.152362703G>A	(Likely) pathogenic	1 lab	ddd58267bd
X:86773018 KLHL4 A>G	X	86773018	86773018	A	G	KLHL4	c.122A>G	NM_019117.5	NP_061990.2:p.(Tyr41Cys)	NC_000023.10:g.86773018A>G	(Likely) benign	1 lab	fa82c6c21a
12:22035769 ABCC9 A>G	12	22035769	22035769	A	G	ABCC9	c.1950T>C	NM_020297.2	NP_064693.2:p.(Tyr650=)	NC_000012.11:g.22035769A>G	(Likely) benign	1 lab	fa85072933
7:91707104 AKAP9 T>A	7	91707104	91707104	T	A	AKAP9	c.6860T>A	NM_005751.4	NP_005742.4:p.(Ile2287Lys)	NC_000007.13:g.91707104T>A	(Likely) benign	1 lab	fa85c331a0
X:41604860 CASK A>T	X	41604860	41604860	A	T	CASK	c.279-6T>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41604860A>T	(Likely) benign	1 lab	fa86379c6a
16:2110571 TSC2 C>G	16	2110571	2110571	C	G	TSC2	c.976-100C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110571C>G	(Likely) benign	1 lab	fa88c84217
2:179429186 TTN C>T	2	179429186	179429186	C	T	TTN	c.81673G>A	NM_001267550.1	NP_001254479.1:p.(Val27225Ile)	NC_000002.11:g.179429186C>T	VUS	1 lab	fa8e9765ed
18:19399530 MIB1 A>T	18	19399530	19399530	A	T	MIB1	c.1752A>T	NM_020774.3	NP_065825.1:p.(Glu584Asp)	NC_000018.9:g.19399530A>T	(Likely) benign	1 lab	fa962e8aee
17:42326599 SLC4A1 T>G	17	42326599	42326599	T	G	SLC4A1	c.*1227A>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42326599T>G	(Likely) benign	1 lab	fa999029c2
2:9676070 ADAM17 T>A	2	9676070	9676070	T	A	ADAM17	c.362-19A>T	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9676070T>A	(Likely) benign	1 lab	fa9f40e4a7
20:60887989 LAMA5 G>A	20	60887989	60887989	G	A	LAMA5	c.9033C>T	NM_005560.4	NP_005551.3:p.(Ala3011=)	NC_000020.10:g.60887989G>A	(Likely) benign	1 lab	faa26728bd
12:6443297 TNFRSF1A G>C	12	6443297	6443297	G	C	TNFRSF1A	c.153C>G	NM_001065.3	NP_001056.1:p.(His51Gln)	NC_000012.11:g.6443297G>C	VUS	1 lab	faa28bcccf
4:149356682 NR3C2 T>G	4	149356682	149356682	T	G	NR3C2	c.1331A>C	NM_000901.5	NP_000892.2:p.(Asn444Thr)	NC_000004.11:g.149356682T>G	(Likely) benign	1 lab	faa37ace5f
10:64967635 JMJD1C T>C	10	64967635	64967635	T	C	JMJD1C	c.3794A>G	NM_032776.3	NP_116165.1:p.(Lys1265Arg)	NC_000010.10:g.64967635T>C	VUS	1 lab	ddd7d4e3af
19:1461169 APC2 C>T	19	1461169	1461169	C	T	APC2	c.1638+17C>T	NM_005883.2	NP_005874.1:p.?	NC_000019.9:g.1461169C>T	(Likely) benign	1 lab	faa761428c
9:139326447 INPP5E A>G	9	139326447	139326447	A	G	INPP5E	c.1388-10T>C	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139326447A>G	(Likely) benign	1 lab	faaa732956
20:744654 SLC52A3 AG>A	20	744654	744656	AG	A	SLC52A3	c.568-8del	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.744656del	(Likely) benign	1 lab	faab009b05
9:14804943 FREM1 A>G	9	14804943	14804943	A	G	FREM1	c.3471+11T>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14804943A>G	(Likely) benign	1 lab	faafe9ea98
12:52162895 SCN8A G>A	12	52162895	52162895	G	A	SCN8A	c.3148G>A	NM_014191.4	NP_055006.1:p.(Gly1050Ser)	NC_000012.11:g.52162895G>A	(Likely) pathogenic	1 lab	fab0458a2c
X:76889148 ATRX G>A	X	76889148	76889148	G	A	ATRX	c.4862C>T	NM_000489.6	NP_000480.3:p.(Thr1621Met)	NC_000023.10:g.76889148G>A	(Likely) pathogenic	1 lab	ddd99a2b8e
5:95728976 PCSK1 G>A	5	95728976	95728976	G	A	PCSK1	c.1991C>T	NM_000439.5	NP_000430.3:p.(Ser664Phe)	NC_000005.9:g.95728976G>A	(Likely) benign	1 lab	fab613e13b
X:153215079 HCFC1 G>A	X	153215079	153215079	G	A	HCFC1	c.6005-12C>T	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153215079G>A	(Likely) benign	1 lab	fab693a65f
12:110019339 MVK G>A	12	110019339	110019339	G	A	MVK	c.511G>A	NM_000431.2	NP_000422.1:p.(Gly171Arg)	NC_000012.11:g.110019339G>A	(Likely) pathogenic	1 lab	fabb0c33de
12:111885879 SH2B3 C>T	12	111885879	111885879	C	T	SH2B3	c.1501C>T	NM_005475.2	NP_005466.1:p.(Leu501Phe)	NC_000012.11:g.111885879C>T	(Likely) benign	1 lab	fabd1bc6bb
19:1461954 APC2 T>A	19	1461954	1461954	T	A	APC2	c.1639-8T>A	NM_005883.2	NP_005874.1:p.?	NC_000019.9:g.1461954T>A	(Likely) benign	1 lab	fabfd86d02
17:78157961 CARD14 G>A	17	78157961	78157961	G	A	CARD14	c.599G>A	NM_024110.4	NP_077015.2:p.(Ser200Asn)	NC_000017.10:g.78157961G>A	(Likely) benign	1 lab	fac16efe32
3:122003702 CASR C>A	3	122003702	122003702	C	A	CASR	c.2901C>A	NM_000388.4	NP_000379.3:p.(Ile967=)	NC_000003.11:g.122003702C>A	(Likely) benign	1 lab	fac21d740d
15:55522747 RAB27A C>T	15	55522747	55522747	C	T	RAB27A	c.154-63G>A	NM_004580.5	NP_004571.2:p.?	NC_000015.9:g.55522747C>T	(Likely) benign	1 lab	fac3e7753f
14:64520307 SYNE2 G>A	14	64520307	64520307	G	A	SYNE2	c.9676G>A	NM_182914.2	NP_878918.2:p.(Val3226Met)	NC_000014.8:g.64520307G>A	(Likely) benign	1 lab	fac42836f2
3:121981167 CASR C>T	3	121981167	121981167	C	T	CASR	c.1285C>T	NM_001178065.2	NP_001171536.2:p.(His429Tyr)	NC_000003.11:g.121981167C>T	(Likely) benign	1 lab	fac9a3ff27
17:18152174 FLII C>G	17	18152174	18152174	C	G	FLII	c.1925G>C	NM_001256264.2	NP_001243193.1:p.(Gly642Ala)	NC_000017.10:g.18152174C>G	VUS	1 lab	facb42e194
11:108165729 ATM C>T	11	108165729	108165729	C	T	ATM	c.4852C>T	NM_000051.4	NP_000042.3:p.(Arg1618Ter)	NC_000011.9:g.108165729C>T	(Likely) pathogenic	1 lab	dde06ba78f
8:144808928 SACK1H C>T	8	144808928	144808928	C	T	SACK1H	c.2703G>A	NM_198488.3	NP_940890.3:p.(Lys901=)	NC_000008.10:g.144808928C>T	(Likely) benign	1 lab	facc3bc2db
9:139265870 CARD9 G>A	9	139265870	139265870	G	A	CARD9	c.228C>T	NM_052813.4	NP_434700.2:p.(Tyr76=)	NC_000009.11:g.139265870G>A	(Likely) benign	1 lab	fad1535917
5:45396499 HCN1 T>A	5	45396499	45396499	T	A	HCN1	c.1230+95A>T	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45396499T>A	(Likely) benign	1 lab	fad5770dcb
14:20942952 PNP T>A	14	20942952	20942952	T	A	PNP	c.306T>A	NM_000270.3	NP_000261.2:p.(Val102=)	NC_000014.8:g.20942952T>A	(Likely) benign	1 lab	fadc2c31b9
1:160327865 NCSTN C>T	1	160327865	160327865	C	T	NCSTN	c.2008-74C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160327865C>T	(Likely) benign	1 lab	fae11c2cf9
X:70680536 TAF1 A>G	X	70680536	70680536	A	G	TAF1	c.5342A>G	NM_004606.4	NP_004597.2:p.(Lys1781Arg)	NC_000023.10:g.70680536A>G	VUS	1 lab	fae82cc72e
4:55141085 PDGFRA G>A	4	55141085	55141085	G	A	PDGFRA	c.1731G>A	NM_006206.4	NP_006197.1:p.(Pro577=)	NC_000004.11:g.55141085G>A	(Likely) benign	1 lab	fae9e02d8b
9:135864547 GFI1B G>A	9	135864547	135864547	G	A	GFI1B	c.610G>A	NM_004188.5	NP_004179.3:p.(Ala204Thr)	NC_000009.11:g.135864547G>A	(Likely) benign	1 lab	faedad40cb
13:32945293 BRCA2 G>A	13	32945293	32945293	G	A	BRCA2	c.8632+56G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32945293G>A	(Likely) benign	1 lab	faf1075f5a
X:25025371 ARX G>GGCGGCA	X	25025371	25025384	G	GGCGGCA	ARX	c.1299_1304dup	NM_139058.3	NP_620689.1:p.(Ala439_Ala440dup)	NC_000023.10:g.25025379_25025384dup	VUS	1 lab	dde2c155c1
7:128486362 FLNC T>C	7	128486362	128486362	T	C	FLNC	c.3972T>C	NM_001458.4	NP_001449.3:p.(His1324=)	NC_000007.13:g.128486362T>C	(Likely) benign	1 lab	faf406b3ea
X:107909779 COL4A5 G>A	X	107909779	107909779	G	A	COL4A5	c.3508G>A	NM_000495.5	NP_000486.1:p.(Gly1170Ser)	NC_000023.10:g.107909779G>A	(Likely) pathogenic	1 lab	faf79176a5
22:23915673 IGLL1 TA>T	22	23915673	23915677	TA	T	IGLL1	c.421del	NM_020070.4	NP_064455.1:p.(Tyr141IlefsTer5)	NC_000022.10:g.23915677del	VUS	1 lab	faf8b82cbe
12:22035731 ABCC9 C>T	12	22035731	22035731	C	T	ABCC9	c.1988G>A	NM_020297.4	NP_064693.2:p.(Arg663His)	NC_000012.11:g.22035731C>T	(Likely) benign	1 lab	dde3fb8eb2
6:107595536 PDSS2 CT>C	6	107595536	107595546	CT	C	PDSS2	c.432-106del	NM_020381.4	NP_065114.3:p.?	NC_000006.11:g.107595546del	(Likely) benign	1 lab	fafd65ffec
14:105201380 ADSS1 G>A	14	105201380	105201380	G	A	ADSS1	c.345G>A	NM_199165.2	NP_954634.1:p.(Thr115=)	NC_000014.8:g.105201380G>A	(Likely) benign	1 lab	fb0ae5e1c2
22:37622791 RAC2 G>A	22	37622791	37622791	G	A	RAC2	c.501C>T	NM_002872.3	NP_002863.1:p.(Thr167=)	NC_000022.10:g.37622791G>A	(Likely) benign	1 lab	fb0fed97f6
X:153284546 IRAK1 G>A	X	153284546	153284546	G	A	IRAK1	c.437-17C>T	NM_001569.4	NP_001560.2:p.?	NC_000023.10:g.153284546G>A	(Likely) benign	1 lab	fb102b1b28
17:7357607 CHRNB1 C>T	17	7357607	7357607	C	T	CHRNB1	c.821-9C>T	NM_000747.3	NP_000738.2:p.?	NC_000017.10:g.7357607C>T	(Likely) benign	1 lab	fb10e5a588
1:247612035 NLRP3 TG>T	1	247612035	247612036	TG	T	NLRP3	c.*230del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247612036del	(Likely) benign	1 lab	fb120a2b79
4:187527266 FAT1 G>A	4	187527266	187527266	G	A	FAT1	c.10308C>T	NM_005245.4	NP_005236.2:p.(Asn3436=)	NC_000004.11:g.187527266G>A	(Likely) benign	1 lab	fb14a9399b
11:62414017 GANAB G>A	11	62414017	62414017	G	A	GANAB	c.38+17C>T	NM_198335.4	NP_938149.2:p.?	NC_000011.9:g.62414017G>A	(Likely) benign	1 lab	fb151ec00c
2:179402567 TTN G>A	2	179402567	179402567	G	A	TTN	c.72547C>T	NM_133432.3	NP_597676.3:p.(Gln24183Ter)	NC_000002.11:g.179402567G>A	(Likely) pathogenic	1 lab	fb17b9dcee
2:179481669 TTN G>A	2	179481669	179481669	G	A	TTN	c.21127C>T	NM_133432.3	NP_597676.3:p.(Leu7043=)	NC_000002.11:g.179481669G>A	(Likely) benign	1 lab	fb1a344ee9
19:13563857 CACNA1A G>A	19	13563857	13563857	G	A	CACNA1A	c.400-28C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13563857G>A	(Likely) benign	1 lab	fb229f7c6f
11:117857203 IL10RA G>C	11	117857203	117857203	G	C	IL10RA	c.21G>C	NM_001558.3	NP_001549.2:p.(Val7=)	NC_000011.9:g.117857203G>C	(Likely) benign	1 lab	fb2a047988
2:189962059 COL5A2 A>G	2	189962059	189962059	A	G	COL5A2	c.403-3T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189962059A>G	(Likely) benign	1 lab	fb2b5d0d18
X:153673989 FAM50A C>G	X	153673989	153673989	C	G	FAM50A	c.120C>G	NM_004699.4	NP_004690.1:p.(Ile40Met)	NC_000023.10:g.153673989C>G	(Likely) benign	1 lab	fb2ba2f1f4
10:78709061 KCNMA1 C>T	10	78709061	78709061	C	T	KCNMA1	c.2386G>A	NM_001014797.3	NP_001014797.1:p.(Val796Ile)	NC_000010.10:g.78709061C>T	(Likely) benign	1 lab	fb2f2425b4
2:168101142 XIRP2 T>G	2	168101142	168101142	T	G	XIRP2	c.3240T>G	NM_152381.6	NP_689594.4:p.(Thr1080=)	NC_000002.11:g.168101142T>G	(Likely) benign	1 lab	fb3384a488
17:61559923 ACE C>T	17	61559923	61559923	C	T	ACE	c.1215C>T	NM_000789.4	NP_000780.1:p.(Pro405=)	NC_000017.10:g.61559923C>T	(Likely) benign	1 lab	dde72cec45
15:25599831 UBE3A C>T	15	25599831	25599831	C	T	UBE3A	c.2134-1G>A	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25599831C>T	(Likely) pathogenic	1 lab	fb371de94b
6:51523850 PKHD1 G>A	6	51523850	51523850	G	A	PKHD1	c.11074C>T	NM_138694.4	NP_619639.3:p.(Arg3692Ter)	NC_000006.11:g.51523850G>A	(Likely) pathogenic	1 lab	fb3acfdb1d
21:47410626 COL6A1 T>G	21	47410626	47410626	T	G	COL6A1	c.1003-61T>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47410626T>G	(Likely) benign	1 lab	fb3dad4efb
6:110424599 WASF1 G>A	6	110424599	110424599	G	A	WASF1	c.875C>T	NM_003931.3	NP_003922.1:p.(Pro292Leu)	NC_000006.11:g.110424599G>A	(Likely) benign	1 lab	dde9461e8f
5:142680227 NR3C1 T>C	5	142680227	142680227	T	C	NR3C1	c.1570A>G	NM_001018077.1	NP_001018087.1:p.(Thr524Ala)	NC_000005.9:g.142680227T>C	(Likely) benign	1 lab	fb4394467c
17:78172277 CARD14 C>T	17	78172277	78172277	C	T	CARD14	c.1738C>T	NM_024110.4	NP_077015.2:p.(Leu580=)	NC_000017.10:g.78172277C>T	(Likely) benign	1 lab	fb47daa73b
10:79163485 KCNMA1 G>A	10	79163485	79163485	G	A	KCNMA1	c.540+135C>T	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.79163485G>A	(Likely) benign	1 lab	fb4f557896
4:6600070 MAN2B2 C>T	4	6600070	6600070	C	T	MAN2B2	c.1394C>T	NM_015274.3	NP_056089.1:p.(Ala465Val)	NC_000004.11:g.6600070C>T	(Likely) benign	1 lab	fb50175608
12:56749494 STAT2 A>G	12	56749494	56749494	A	G	STAT2	c.379T>C	NM_005419.4	NP_005410.1:p.(Leu127=)	NC_000012.11:g.56749494A>G	(Likely) benign	1 lab	fb51f0dab2
7:91651582 AKAP9 C>T	7	91651582	91651582	C	T	AKAP9	c.3868C>T	NM_005751.4	NP_005742.4:p.(Leu1290Phe)	NC_000007.13:g.91651582C>T	(Likely) benign	1 lab	fb5639707b
18:55328449 ATP8B1 C>A	18	55328449	55328449	C	A	ATP8B1	c.2664G>T	NM_005603.6	NP_005594.2:p.(Thr888=)	NC_000018.9:g.55328449C>A	(Likely) benign	1 lab	fb56e76171
6:73843300 KCNQ5 C>T	6	73843300	73843300	C	T	KCNQ5	c.1461C>T	NM_001160133.2	NP_001153605.1:p.(Asn487=)	NC_000006.11:g.73843300C>T	(Likely) benign	1 lab	fb5a578cc1
2:189922169 COL5A2 A>T	2	189922169	189922169	A	T	COL5A2	c.2230-16T>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189922169A>T	(Likely) benign	1 lab	fb5abf22b5
5:176915244 PDLIM7 C>T	5	176915244	176915244	C	T	PDLIM7	c.875G>A	NM_005451.5	NP_005442.2:p.(Arg292His)	NC_000005.9:g.176915244C>T	(Likely) benign	1 lab	fb5c292ffb
9:131346309 SPTAN1 A>G	9	131346309	131346309	A	G	SPTAN1	c.2193+61A>G	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131346309A>G	(Likely) benign	1 lab	fb5c67a19a
6:131924269 MED23 C>T	6	131924269	131924269	C	T	MED23	c.1832G>A	NM_004830.4	NP_004821.2:p.(Arg611Gln)	NC_000006.11:g.131924269C>T	(Likely) pathogenic	1 lab	fb6cbf817b
16:53725913 RPGRIP1L TG>T	16	53725913	53725914	TG	T	RPGRIP1L	c.529+64del	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53725914del	(Likely) benign	1 lab	fb7f57b772
22:29099540 CHEK2 C>A	22	29099540	29099540	C	A	CHEK2	c.861G>T	NM_007194.4	NP_009125.1:p.(Lys287Asn)	NC_000022.10:g.29099540C>A	VUS	1 lab	fb808c4461
13:32937485 BRCA2 G>C	13	32937485	32937485	G	C	BRCA2	c.8146G>C	NM_000059.3	NP_000050.2:p.(Val2716Leu)	NC_000013.10:g.32937485G>C	(Likely) benign	1 lab	fb869e5650
19:41860934 B9D2 G>C	19	41860934	41860934	G	C	B9D2	c.215-16C>G	NM_030578.4	NP_085055.2:p.?	NC_000019.9:g.41860934G>C	(Likely) benign	1 lab	fb87cb3b19
9:130581937 ENG C>G	9	130581937	130581937	C	G	ENG	c.1275G>C	NM_000118.3	NP_000109.1:p.(Ala425=)	NC_000009.11:g.130581937C>G	(Likely) benign	1 lab	fb87f27ed2
5:147481362 SPINK5 C>T	5	147481362	147481362	C	T	SPINK5	c.1321C>T	NM_006846.4	NP_006837.2:p.(Arg441Cys)	NC_000005.9:g.147481362C>T	VUS	1 lab	ddec541c6e
14:68238751 ZFYVE26 C>T	14	68238751	68238751	C	T	ZFYVE26	c.5484+13G>A	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68238751C>T	(Likely) benign	1 lab	fb8e7c8fac
9:712526 KANK1 A>G	9	712526	712526	A	G	KANK1	c.1760A>G	NM_015158.4	NP_055973.2:p.(Glu587Gly)	NC_000009.11:g.712526A>G	(Likely) benign	1 lab	fb8e7e7806
20:60927347 LAMA5 G>A	20	60927347	60927347	G	A	LAMA5	c.638C>T	NM_005560.4	NP_005551.3:p.(Ala213Val)	NC_000020.10:g.60927347G>A	(Likely) benign	1 lab	fb91428344
19:48946253 GRIN2D T>G	19	48946253	48946253	T	G	GRIN2D	c.3070T>G	NM_000836.2	NP_000827.2:p.(Phe1024Val)	NC_000019.9:g.48946253T>G	VUS	1 lab	fb94a4029d
15:41371882 INO80 T>C	15	41371882	41371882	T	C	INO80	c.1131+17A>G	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41371882T>C	(Likely) benign	1 lab	fb95fa010b
19:39076847 RYR1 G>A	19	39076847	39076847	G	A	RYR1	c.14969+16G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39076847G>A	(Likely) benign	1 lab	fb972bad52
8:100480061 VPS13B A>G	8	100480061	100480061	A	G	VPS13B	c.3666+199A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100480061A>G	(Likely) benign	1 lab	fb99cdbcc3
16:5129792 ALG1 C>T	16	5129792	5129792	C	T	ALG1	c.945C>T	NM_019109.4	NP_061982.3:p.(Leu315=)	NC_000016.9:g.5129792C>T	(Likely) benign	1 lab	fb9b64397e
4:126328074 FAT4 G>A	4	126328074	126328074	G	A	FAT4				NC_000004.11:g.126328074G>A	(Likely) benign	1 lab	fb9c3d8c52
12:66856918 GRIP1 T>C	12	66856918	66856918	T	C	GRIP1	c.873-45A>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66856918T>C	(Likely) benign	1 lab	fb9ced7220
X:103031700 PLP1 A>AG	X	103031700	103031703	A	AG	PLP1	c.-143-78dup	NM_001128834.2	NP_001122306.1:p.?	NC_000023.10:g.103031703dup	(Likely) benign	1 lab	fba70b21e1
2:166895946 SCN1A C>T	2	166895946	166895946	C	T	SCN1A	c.2576G>A	NM_001165963.3	NP_001159435.1:p.(Arg859His)	NC_000002.11:g.166895946C>T	(Likely) pathogenic	1 lab	fbb1241f12
22:32206719 DEPDC5 A>T	22	32206719	32206719	A	T	DEPDC5	c.1445+92A>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32206719A>T	(Likely) benign	1 lab	fbb3a25f4a
16:8858700 ABAT G>GCA	16	8858700	8858722	G	GCA	ABAT	c.540+34_540+35dup	NM_020686.6	NP_065737.2:p.?	NC_000016.9:g.8858721_8858722dup	(Likely) benign	1 lab	fbb727503e
8:145003618 PLEC C>T	8	145003618	145003618	C	T	PLEC	c.3456G>A	NM_201380.4	NP_958782.1:p.(Pro1152=)	NC_000008.10:g.145003618C>T	(Likely) benign	1 lab	fbba1fa112
12:66770869 GRIP1 G>C	12	66770869	66770869	G	C	GRIP1	c.2578-28C>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66770869G>C	(Likely) benign	1 lab	fbba878933
9:14756318 FREM1 C>CA	9	14756318	14756327	C	CA	FREM1	c.5407+53dup	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14756327dup	(Likely) benign	1 lab	fbbe58017f
20:10630983 JAG1 G>A	20	10630983	10630983	G	A	JAG1	c.1146C>T	NM_000214.3	NP_000205.1:p.(Asn382=)	NC_000020.10:g.10630983G>A	(Likely) benign	1 lab	fbbf0dc852
1:198723439 PTPRC A>C	1	198723439	198723439	A	C	PTPRC	c.3551A>C	NM_002838.5	NP_002829.3:p.(Asn1184Thr)	NC_000001.10:g.198723439A>C	VUS	1 lab	fbbfa007b9
1:173930248 RC3H1 T>G	1	173930248	173930248	T	G	RC3H1	c.2337A>C	NM_172071.4	NP_742068.1:p.(Ser779=)	NC_000001.10:g.173930248T>G	(Likely) benign	1 lab	fbc032e9b9
12:21960340 ABCC9 A>G	12	21960340	21960340	A	G	ABCC9	c.4389T>C	NM_020297.2	NP_064693.2:p.(Phe1463=)	NC_000012.11:g.21960340A>G	(Likely) benign	1 lab	fbc3b96286
16:11001955 CIITA G>A	16	11001955	11001955	G	A	CIITA	c.2606G>A	NM_000246.3	NP_000237.2:p.(Cys869Tyr)	NC_000016.9:g.11001955G>A	(Likely) benign	1 lab	fbc8a6c31f
11:1270382 MUC5B C>G	11	1270382	1270382	C	G	MUC5B	c.12272C>G	NM_002458.3	NP_002449.2:p.(Thr4091Arg)	NC_000011.9:g.1270382C>G	(Likely) benign	1 lab	fbca3f7bb3
22:36661296 APOL1 C>T	22	36661296	36661296	C	T	APOL1	c.414C>T	NM_003661.4	NP_003652.2:p.(Asn138=)	NC_000022.10:g.36661296C>T	(Likely) benign	1 lab	fbcadfabfa
2:201950176 NDUFB3 T>C	2	201950176	201950176	T	C	NDUFB3	c.141-6T>C	NM_001257102.2	NP_001244031.1:p.?	NC_000002.11:g.201950176T>C	(Likely) benign	1 lab	fbcc7a8a41
22:37271715 NCF4 G>A	22	37271715	37271715	G	A	NCF4	c.648G>A	NM_013416.3	NP_038202.2:p.(Thr216=)	NC_000022.10:g.37271715G>A	VUS	1 lab	fc0144fb24
17:10430096 MYH2 G>T	17	10430096	10430096	G	T	MYH2	c.4007C>A	NM_017534.6	NP_060004.3:p.(Ala1336Glu)	NC_000017.10:g.10430096G>T	(Likely) benign	1 lab	fbd31aff2d
X:153591123 FLNA G>A	X	153591123	153591123	G	A	FLNA	c.2310C>T	NM_001456.3	NP_001447.2:p.(Asn770=)	NC_000023.10:g.153591123G>A	(Likely) benign	1 lab	fbd96b8888
15:66995602 SMAD6 C>T	15	66995602	66995602	C	T	SMAD6	c.6C>T	NM_005585.5	NP_005576.3:p.(Phe2=)	NC_000015.9:g.66995602C>T	(Likely) benign	1 lab	fbda3d30bd
15:34032188 RYR3 C>G	15	34032188	34032188	C	G	RYR3	c.7812C>G	NM_001036.6	NP_001027.3:p.(Asn2604Lys)	NC_000015.9:g.34032188C>G	VUS	1 lab	ddfa1e6114
17:26864217 FOXN1 G>A	17	26864217	26864217	G	A	FOXN1	c.1710G>A	NM_003593.2	NP_003584.2:p.(Ser570=)	NC_000017.10:g.26864217G>A	(Likely) benign	1 lab	fbdcd6a4ae
15:25585496 UBE3A T>C	15	25585496	25585496	T	C	UBE3A	c.2364-121A>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25585496T>C	(Likely) benign	1 lab	fbe0fc8386
5:79026393 CMYA5 A>G	5	79026393	79026393	A	G	CMYA5	c.1805A>G	NM_153610.5	NP_705838.3:p.(Gln602Arg)	NC_000005.9:g.79026393A>G	VUS	1 lab	fbe77a5c80
12:22040826 ABCC9 A>G	12	22040826	22040826	A	G	ABCC9	c.1845T>C	NM_020297.2	NP_064693.2:p.(Gly615=)	NC_000012.11:g.22040826A>G	(Likely) benign	1 lab	fbe7bfca90
2:227919418 COL4A4 C>T	2	227919418	227919418	C	T	COL4A4	c.2752G>A	NM_000092.4	NP_000083.3:p.(Gly918Arg)	NC_000002.11:g.227919418C>T	(Likely) pathogenic	1 lab	fbe667df73
1:196397246 KCNT2 G>T	1	196397246	196397246	G	T	KCNT2	c.973C>A	NM_198503.5	NP_940905.2:p.(Pro325Thr)	NC_000001.10:g.196397246G>T	VUS	1 lab	ddfa7c0a32
X:110459635 PAK3 A>G	X	110459635	110459635	A	G	PAK3	c.1408-14A>G	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110459635A>G	(Likely) benign	1 lab	fbeb08c38a
18:32431909 DTNA G>A	18	32431909	32431909	G	A	DTNA	c.1271+17G>A	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32431909G>A	(Likely) benign	1 lab	fbed5376c5
19:33167879 RGS9BP G>A	19	33167879	33167879	G	A	RGS9BP	c.*2G>A	NM_207391.3	NP_997274.2:p.?	NC_000019.9:g.33167879G>A	(Likely) benign	1 lab	ddfb424b96
1:16373031 CLCNKB G>A	1	16373031	16373031	G	A	CLCNKB	c.231G>A	NM_000085.4	NP_000076.2:p.(Ala77=)	NC_000001.10:g.16373031G>A	(Likely) benign	1 lab	fbf14d41ac
2:166802286 TTC21B T>G	2	166802286	166802286	T	G	TTC21B	c.263-86A>C	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166802286T>G	(Likely) benign	1 lab	fbf3db1cb2
4:158224865 GRIA2 G>A	4	158224865	158224865	G	A	GRIA2	c.391G>A	NM_001083619.3	NP_001077088.2:p.(Asp131Asn)	NC_000004.11:g.158224865G>A	(Likely) benign	1 lab	ddfb6b0750
11:117857450 IL10RA T>C	11	117857450	117857450	T	C	IL10RA	c.67+201T>C	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117857450T>C	(Likely) benign	1 lab	fbf674f994
14:65245956 SPTB C>T	14	65245956	65245956	C	T	SPTB	c.4482G>A	NM_001024858.3	NP_001020029.1:p.(Val1494=)	NC_000014.8:g.65245956C>T	(Likely) benign	1 lab	fbf745fa11
9:124081086 GSN C>T	9	124081086	124081086	C	T	GSN	c.1272C>T	NM_000177.5	NP_000168.1:p.(Ala424=)	NC_000009.11:g.124081086C>T	(Likely) benign	1 lab	fbf9540219
16:89576895 SPG7 C>A	16	89576895	89576895	C	A	SPG7	c.184-3C>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89576895C>A	(Likely) benign	1 lab	ddfb753d45
2:228119371 COL4A3 G>C	2	228119371	228119371	G	C	COL4A3	c.829-1G>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228119371G>C	(Likely) pathogenic	1 lab	fbfbb1521b
21:47420726 COL6A1 C>G	21	47420726	47420726	C	G	COL6A1	c.1822+45C>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47420726C>G	(Likely) benign	1 lab	fbfcb4d535
7:77649089 MAGI2 C>T	7	77649089	77649089	C	T	MAGI2	c.3911G>A	NM_012301.4	NP_036433.2:p.(Gly1304Asp)	NC_000007.13:g.77649089C>T	(Likely) benign	1 lab	fbfd618ab7
2:216271175 FN1 G>A	2	216271175	216271175	G	A	FN1	c.2772C>T	NM_212482.2	NP_997647.1:p.(Thr924=)	NC_000002.11:g.216271175G>A	(Likely) benign	1 lab	fc01748fda
12:44167786 IRAK4 G>A	12	44167786	44167786	G	A	IRAK4	c.670G>A	NM_016123.3	NP_057207.2:p.(Glu224Lys)	NC_000012.11:g.44167786G>A	(Likely) benign	1 lab	fc074aac97
11:117866312 IL10RA G>A	11	117866312	117866312	G	A	IL10RA	c.697G>A	NM_001558.3	NP_001549.2:p.(Val233Met)	NC_000011.9:g.117866312G>A	(Likely) benign	1 lab	fc0ad0a7a1
1:43880857 SZT2 G>A	1	43880857	43880857	G	A	SZT2	c.603G>A	NM_015284.4	NP_056099.3:p.(Leu201=)	NC_000001.10:g.43880857G>A	(Likely) benign	1 lab	fc0de721dc
2:32460348 NLRC4 A>G	2	32460348	32460348	A	G	NLRC4	c.2782+122T>C	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32460348A>G	(Likely) benign	1 lab	fc134b0f6d
9:120475936 TLR4 G>T	9	120475936	120475936	G	T	TLR4				NC_000009.11:g.120475936G>T	(Likely) benign	1 lab	fc15109413
22:32270409 DEPDC5 G>A	22	32270409	32270409	G	A	DEPDC5	c.3696+18G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32270409G>A	(Likely) benign	1 lab	fc16427ee0
8:41513294 ANK1 G>A	8	41513294	41513294	G	A	ANK1	c.*37-22C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41513294G>A	(Likely) benign	1 lab	fc1870aa7a
20:60903350 LAMA5 G>A	20	60903350	60903350	G	A	LAMA5	c.4599C>T	NM_005560.4	NP_005551.3:p.(Pro1533=)	NC_000020.10:g.60903350G>A	(Likely) benign	1 lab	fc1b5fefec
5:89981460 ADGRV1 A>T	5	89981460	89981460	A	T	ADGRV1	c.6275-137A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89981460A>T	(Likely) benign	1 lab	fc1cfdfe80
3:174814567 NAALADL2 CT>C	3	174814567	174814569	CT	C	NAALADL2	c.44-11del	NM_207015.3	NP_996898.2:p.?	NC_000003.11:g.174814569del	(Likely) benign	1 lab	fc1d1b3acc
2:179616248 TTN C>T	2	179616248	179616248	C	T	TTN	c.10879G>A	NM_133379.4	NP_596870.2:p.(Gly3627Arg)	NC_000002.11:g.179616248C>T	VUS	1 lab	fc1e2d97fb
8:90995093 NBN A>T	8	90995093	90995093	A	T	NBN	c.38-10T>A	NM_002485.4	NP_002476.2:p.?	NC_000008.10:g.90995093A>T	(Likely) benign	1 lab	fc1f02053b
22:40761028 ADSL CCTT>C	22	40761028	40761037	CCTT	C	ADSL	c.1343_1345del	NM_000026.4	NP_000017.1:p.(Ser448del)	NC_000022.10:g.40761035_40761037del	VUS	1 lab	ddfe58754f
12:110028646 MVK G>T	12	110028646	110028646	G	T	MVK	c.748G>T	NM_000431.2	NP_000422.1:p.(Val250Phe)	NC_000012.11:g.110028646G>T	(Likely) pathogenic	1 lab	fc2253c118
13:32951016 BRCA2 G>A	13	32951016	32951016	G	A	BRCA2	c.8754+88G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32951016G>A	(Likely) benign	1 lab	fc2653471e
1:237713945 RYR2 G>A	1	237713945	237713945	G	A	RYR2	c.3168G>A	NM_001035.3	NP_001026.2:p.(Thr1056=)	NC_000001.10:g.237713945G>A	(Likely) benign	1 lab	fc27dd82d1
X:54475379 FGD1 C>T	X	54475379	54475379	C	T	FGD1	c.2296G>A	NM_004463.3	NP_004454.2:p.(Glu766Lys)	NC_000023.10:g.54475379C>T	VUS	1 lab	de03c8deef
4:79432286 FRAS1 A>C	4	79432286	79432286	A	C	FRAS1	c.9781-142A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79432286A>C	(Likely) benign	1 lab	fc2b7e4e14
9:130586583 ENG C>A	9	130586583	130586583	C	A	ENG	c.1134G>T	NM_000118.3	NP_000109.1:p.(Ala378=)	NC_000009.11:g.130586583C>A	(Likely) pathogenic	1 lab	fc2fd75220
2:50850722 NRXN1 T>C	2	50850722	50850722	T	C	NRXN1	c.864A>G	NM_004801.5	NP_004792.1:p.(Gly288=)	NC_000002.11:g.50850722T>C	(Likely) benign	1 lab	fc31dfdd69
10:73111561 SLC29A3 C>T	10	73111561	73111561	C	T	SLC29A3	c.610+16C>T	NM_018344.6	NP_060814.4:p.?	NC_000010.10:g.73111561C>T	(Likely) benign	1 lab	fc3521554f
17:44115951 KANSL1 A>G	17	44115951	44115951	A	G	KANSL1	c.2494T>C	NM_001193466.2	NP_001180395.1:p.(Ser832Pro)	NC_000017.10:g.44115951A>G	(Likely) benign	1 lab	fc36e27dde
2:166758422 TTC21B T>TA	2	166758422	166758423	T	TA	TTC21B	c.2569-3dup	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166758423dup	(Likely) benign	1 lab	fc37b0efce
1:26393956 TRIM63 A>C	1	26393956	26393956	A	C	TRIM63	c.30T>G	NM_032588.3	NP_115977.2:p.(Asp10Glu)	NC_000001.10:g.26393956A>C	(Likely) benign	1 lab	fc38e3d4d3
2:215617196 BARD1 G>C	2	215617196	215617196	G	C	BARD1	c.1652C>G	NM_000465.4	NP_000456.2:p.(Ser551Ter)	NC_000002.11:g.215617196G>C	(Likely) pathogenic	1 lab	de057a2621
X:18606122 CDKL5 T>C	X	18606122	18606122	T	C	CDKL5	c.603T>C	NM_001037343.1	NP_001032420.1:p.(Leu201=)	NC_000023.10:g.18606122T>C	(Likely) benign	1 lab	fc3a49770f
10:96039606 PLCE1 A>G	10	96039606	96039606	A	G	PLCE1	c.4733A>G	NM_016341.3	NP_057425.3:p.(Asn1578Ser)	NC_000010.10:g.96039606A>G	(Likely) benign	1 lab	fc3dcbede0
1:247587259 NLRP3 C>A	1	247587259	247587259	C	A	NLRP3	c.508C>A	NM_001243133.2	NP_001230062.1:p.(Arg170Ser)	NC_000001.10:g.247587259C>A	(Likely) pathogenic	1 lab	fc42e075f8
4:88977303 PKD2 CAA>C	4	88977303	88977306	CAA	C	PKD2	c.1784_1785del	NM_000297.4	NP_000288.1:p.(Lys595ArgfsTer30)	NC_000004.11:g.88977305_88977306del	(Likely) pathogenic	1 lab	fc4981c5e1
16:4386844 GLIS2 C>T	16	4386844	4386844	C	T	GLIS2	c.894C>T	NM_032575.2	NP_115964.2:p.(Pro298=)	NC_000016.9:g.4386844C>T	(Likely) benign	1 lab	fc4a402d78
15:45364534 SORD A>C	15	45364534	45364534	A	C	SORD	c.806A>C	NM_003104.6	NP_003095.2:p.(Asn269Thr)	NC_000015.9:g.45364534A>C	(Likely) benign	1 lab	fc4a767548
6:7580351 DSP A>C	6	7580351	7580351	A	C	DSP	c.3928A>C	NM_004415.4	NP_004406.2:p.(Lys1310Gln)	NC_000006.11:g.7580351A>C	VUS	1 lab	de1461b051
17:61573743 ACE G>A	17	61573743	61573743	G	A	ACE	c.3381-12G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61573743G>A	(Likely) benign	1 lab	fc4cb11cb0
11:532724 HRAS C>T	11	532724	532724	C	T	HRAS	c.482G>A	NM_005343.4	NP_005334.1:p.(Arg161His)	NC_000011.9:g.532724C>T	VUS	1 lab	de160b006c
10:95557775 LGI1 T>C	10	95557775	95557775	T	C	LGI1	c.*215T>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95557775T>C	(Likely) benign	1 lab	fc514ba961
16:81124216 GCSH T>C	16	81124216	81124216	T	C	GCSH	c.218A>G	NM_004483.4	NP_004474.2:p.(Asn73Ser)	NC_000016.9:g.81124216T>C	(Likely) benign	1 lab	fc55b56903
8:41541978 ANK1 C>T	8	41541978	41541978	C	T	ANK1	c.4660+84G>A	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41541978C>T	(Likely) benign	1 lab	fc5b892942
X:53278040 IQSEC2 A>G	X	53278040	53278040	A	G	IQSEC2	c.2322T>C	NM_001111125.3	NP_001104595.1:p.(Tyr774=)	NC_000023.10:g.53278040A>G	(Likely) benign	1 lab	fc5ca49b22
18:2925273 LPIN2 G>A	18	2925273	2925273	G	A	LPIN2	c.1887C>T	NM_014646.2	NP_055461.1:p.(His629=)	NC_000018.9:g.2925273G>A	(Likely) benign	1 lab	fc694fff09
11:67766688 UNC93B1 C>T	11	67766688	67766688	C	T	UNC93B1	c.642G>A	NM_030930.2	NP_112192.2:p.(Ala214=)	NC_000011.9:g.67766688C>T	(Likely) benign	1 lab	fc698d72fa
1:201038742 CACNA1S G>A	1	201038742	201038742	G	A	CACNA1S	c.2361-13C>T	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201038742G>A	(Likely) benign	1 lab	fc6e172e28
2:98872610 VWA3B G>A	2	98872610	98872610	G	A	VWA3B	c.2816G>A	NM_144992.5	NP_659429.4:p.(Arg939Gln)	NC_000002.11:g.98872610G>A	(Likely) benign	1 lab	de184431bc
22:45691554 UPK3A C>T	22	45691554	45691554	C	T	UPK3A	c.818C>T	NM_006953.4	NP_008884.1:p.(Pro273Leu)	NC_000022.10:g.45691554C>T	(Likely) benign	1 lab	fc74f83300
6:56470380 DST A>G	6	56470380	56470380	A	G	DST	c.9046T>C	NM_001374736.1	NP_001361665.1:p.(Leu3016=)	NC_000006.11:g.56470380A>G	(Likely) benign	1 lab	fc78584b2e
5:161524946 GABRG2 A>G	5	161524946	161524946	A	G	GABRG2				NC_000005.9:g.161524946A>G	(Likely) benign	1 lab	fc78aab19e
9:138662014 KCNT1 G>A	9	138662014	138662014	G	A	KCNT1	c.1619+113G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662014G>A	(Likely) benign	1 lab	fc7a9ca0a2
2:166911298 SCN1A ATTTGATAAAG>A	2	166911298	166911309	ATTTGATAAAG	A	SCN1A	c.474-32_474-23del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166911300_166911309del	(Likely) benign	1 lab	fc7da23bea
11:118015894 SCN4B C>G	11	118015894	118015894	C	G	SCN4B	c.112G>C	NM_174934.3	NP_777594.1:p.(Ala38Pro)	NC_000011.9:g.118015894C>G	(Likely) benign	1 lab	fc840ec4ed
1:204128553 REN C>T	1	204128553	204128553	C	T	REN	c.663G>A	NM_000537.4	NP_000528.1:p.(Glu221=)	NC_000001.10:g.204128553C>T	(Likely) benign	1 lab	fc86b58a9a
8:17924696 ASAH1 CT>C	8	17924696	17924706	CT	C	ASAH1	c.382+32del	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17924706del	(Likely) benign	1 lab	fc8d9648d2
22:32222379 DEPDC5 G>T	22	32222379	32222379	G	T	DEPDC5	c.2104+3603G>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32222379G>T	(Likely) benign	1 lab	fc8f7697db
10:95109736 MYOF C>T	10	95109736	95109736	C	T	MYOF	c.3922-10G>A	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95109736C>T	(Likely) benign	1 lab	fc94f2255a
12:15699594 PTPRO T>C	12	15699594	15699594	T	C	PTPRO	c.2256T>C	NM_030667.3	NP_109592.1:p.(Phe752=)	NC_000012.11:g.15699594T>C	(Likely) benign	1 lab	fc94f366d0
4:79297117 FRAS1 A>T	4	79297117	79297117	A	T	FRAS1	c.3292+84A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79297117A>T	(Likely) benign	1 lab	fc95bdf295
5:90281394 ADGRV1 C>T	5	90281394	90281394	C	T	ADGRV1	c.18152+55C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90281394C>T	(Likely) benign	1 lab	fc9a54883e
22:36680325 MYH9 C>A	22	36680325	36680325	C	A	MYH9	c.5593-14G>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36680325C>A	(Likely) benign	1 lab	fca3e84151
11:65984177 PACS1 C>T	11	65984177	65984177	C	T	PACS1	c.909C>T	NM_018026.4	NP_060496.2:p.(Tyr303=)	NC_000011.9:g.65984177C>T	(Likely) benign	1 lab	fca505a044
6:51735388 PKHD1 A>G	6	51735388	51735388	A	G	PKHD1	c.7400T>C	NM_138694.4	NP_619639.3:p.(Leu2467Pro)	NC_000006.11:g.51735388A>G	VUS	1 lab	fcae02cf6c
4:77676157 SHROOM3 A>G	4	77676157	77676157	A	G	SHROOM3	c.4521A>G	NM_020859.4	NP_065910.3:p.(Glu1507=)	NC_000004.11:g.77676157A>G	(Likely) benign	1 lab	de22b5bef1
5:89988651 ADGRV1 G>A	5	89988651	89988651	G	A	ADGRV1	c.7133+48G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89988651G>A	(Likely) benign	1 lab	fcb00382a3
22:32275699 DEPDC5 C>T	22	32275699	32275699	C	T	DEPDC5	c.3994C>T	NM_001242896.3	NP_001229825.1:p.(Arg1332Ter)	NC_000022.10:g.32275699C>T	(Likely) pathogenic	1 lab	fcb25cf4ec
12:12300375 LRP6 C>CTAAA	12	12300375	12300379	C	CTAAA	LRP6	c.3318_3321dup	NM_002336.3	NP_002327.2:p.(Ala1108PhefsTer4)	NC_000012.11:g.12300376_12300379dup	(Likely) pathogenic	1 lab	fcb8af54c8
16:1265412 CACNA1H G>A	16	1265412	1265412	G	A	CACNA1H	c.5173+37G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1265412G>A	(Likely) benign	1 lab	fcba5b37fc
16:81953182 PLCG2 C>T	16	81953182	81953182	C	T	PLCG2	c.2148C>T	NM_002661.3	NP_002652.2:p.(Leu716=)	NC_000016.9:g.81953182C>T	(Likely) benign	1 lab	fcbe5406d2
14:64532361 SYNE2 G>A	14	64532361	64532361	G	A	SYNE2	c.10424G>A	NM_182914.2	NP_878918.2:p.(Ser3475Asn)	NC_000014.8:g.64532361G>A	VUS	1 lab	fcc34e6046
15:50929767 TRPM7 T>C	15	50929767	50929767	T	C	TRPM7	c.684A>G	NM_017672.6	NP_060142.3:p.(Leu228=)	NC_000015.9:g.50929767T>C	(Likely) benign	1 lab	fccdc5c85b
8:41585500 ANK1 C>T	8	41585500	41585500	C	T	ANK1	c.253G>A	NM_000037.4	NP_000028.3:p.(Ala85Thr)	NC_000008.10:g.41585500C>T	VUS	1 lab	fcce60fd51
17:78172359 CARD14 T>C	17	78172359	78172359	T	C	CARD14	c.1820T>C	NM_024110.4	NP_077015.2:p.(Met607Thr)	NC_000017.10:g.78172359T>C	VUS	1 lab	fccef347a5
9:77354303 TRPM6 T>C	9	77354303	77354303	T	C	TRPM6	c.5550A>G	NM_017662.5	NP_060132.3:p.(Gln1850=)	NC_000009.11:g.77354303T>C	(Likely) benign	1 lab	fcd4b1186f
11:64572676 MEN1 C>T	11	64572676	64572676	C	T	MEN1	c.1201-6G>A	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64572676C>T	VUS	1 lab	fcd5b8b454
16:56370729 GNAO1 C>T	16	56370729	56370729	C	T	GNAO1	c.680C>T	NM_020988.3	NP_066268.1:p.(Ala227Val)	NC_000016.9:g.56370729C>T	(Likely) pathogenic	1 lab	fcdce9115b
1:247587338 NLRP3 G>A	1	247587338	247587338	G	A	NLRP3	c.587G>A	NM_001243133.2	NP_001230062.1:p.(Ser196Asn)	NC_000001.10:g.247587338G>A	(Likely) benign	1 lab	fcde602444
5:89910671 ADGRV1 A>T	5	89910671	89910671	A	T	ADGRV1	c.42A>T	NM_032119.4	NP_115495.3:p.(Leu14Phe)	NC_000005.9:g.89910671A>T	(Likely) benign	1 lab	fce454ef03
2:179598599 TTN T>C	2	179598599	179598599	T	C	TTN	c.15517A>G	NM_001267550.1	NP_001254479.1:p.(Lys5173Glu)	NC_000002.11:g.179598599T>C	VUS	1 lab	fce5bcb706
9:14824799 FREM1 G>A	9	14824799	14824799	G	A	FREM1	c.2073C>T	NM_144966.5	NP_659403.4:p.(Ser691=)	NC_000009.11:g.14824799G>A	(Likely) benign	1 lab	fce65f4f08
16:2159151 PKD1 CA>C	16	2159151	2159152	CA	C	PKD1	c.6016del	NM_001009944.3	NP_001009944.3:p.(Trp2006GlyfsTer110)	NC_000016.9:g.2159152del	(Likely) pathogenic	1 lab	fce9fb4d07
20:30918081 KIF3B A>G	20	30918081	30918081	A	G	KIF3B	c.2106A>G	NM_004798.4	NP_004789.1:p.(Ala702=)	NC_000020.10:g.30918081A>G	(Likely) benign	1 lab	fcee099116
16:2133640 TSC2 C>G	16	2133640	2133640	C	G	TSC2	c.3884-56C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2133640C>G	(Likely) benign	1 lab	fcf33748ef
X:100613625 BTK A>G	X	100613625	100613625	A	G	BTK	c.954T>C	NM_000061.2	NP_000052.1:p.(Ser318=)	NC_000023.10:g.100613625A>G	(Likely) benign	1 lab	fcf85e3327
16:23646413 PALB2 G>A	16	23646413	23646413	G	A	PALB2	c.1454C>T	NM_024675.3	NP_078951.2:p.(Thr485Ile)	NC_000016.9:g.23646413G>A	VUS	1 lab	fcf983f746
4:79291086 FRAS1 C>G	4	79291086	79291086	C	G	FRAS1	c.2817C>G	NM_025074.7	NP_079350.5:p.(Tyr939Ter)	NC_000004.11:g.79291086C>G	(Likely) pathogenic	1 lab	fcfc8d535f
22:32293751 DEPDC5 C>G	22	32293751	32293751	C	G	DEPDC5	c.4375+112C>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32293751C>G	(Likely) benign	1 lab	fcfe1d4295
7:94055733 COL1A2 AG>A	7	94055733	94055736	AG	A	COL1A2	c.2999del	NM_000089.4	NP_000080.2:p.(Gly1000AlafsTer23)	NC_000007.13:g.94055736del	(Likely) pathogenic	1 lab	fd04fffa79
10:79397221 KCNMA1 C>T	10	79397221	79397221	C	T	KCNMA1	c.180G>A	NM_002247.4	NP_002238.2:p.(Ser60=)	NC_000010.10:g.79397221C>T	VUS	1 lab	de23c45d2b
21:36164828 RUNX1 A>C	21	36164828	36164828	A	C	RUNX1	c.1047T>G	NM_001754.4	NP_001745.2:p.(Tyr349Ter)	NC_000021.8:g.36164828A>C	(Likely) pathogenic	1 lab	fd0a40ab29
13:100741416 PCCA C>T	13	100741416	100741416	C	T	PCCA	c.42C>T	NM_000282.4	NP_000273.2:p.(Ala14=)	NC_000013.10:g.100741416C>T	(Likely) benign	1 lab	fd0a5899a4
1:228503666 OBSCN C>T	1	228503666	228503666	C	T	OBSCN	c.16002C>T	NM_001271223.2	NP_001258152.2:p.(Asp5334=)	NC_000001.10:g.228503666C>T	(Likely) benign	1 lab	fd0bf0eea2
6:137234595 PEX7 G>A	6	137234595	137234595	G	A	PEX7	c.904-1G>A	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137234595G>A	(Likely) pathogenic	1 lab	fd0c570f0f
14:92562967 ATXN3 CA>C	14	92562967	92562985	CA	C	ATXN3	c.189+50del	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92562985del	(Likely) benign	1 lab	fd112d4109
15:48538979 SLC12A1 A>AAAC	15	48538979	48538993	A	AAAC	SLC12A1	c.1453-115_1453-113dup	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48538991_48538993dup	(Likely) benign	1 lab	fd121e537b
14:24624736 RNF31 C>T	14	24624736	24624736	C	T	RNF31	c.2403+15C>T	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24624736C>T	(Likely) benign	1 lab	fd13169376
10:96006010 PLCE1 G>A	10	96006010	96006010	G	A	PLCE1	c.2728G>A	NM_016341.3	NP_057425.3:p.(Val910Ile)	NC_000010.10:g.96006010G>A	(Likely) benign	1 lab	fd184930fd
16:89615453 SPG7 A>C	16	89615453	89615453	A	C	SPG7	c.1663+932A>C	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89615453A>C	(Likely) benign	1 lab	fd39966383
1:8421940 RERE C>T	1	8421940	8421940	C	T	RERE	c.1903-4G>A	NM_012102.4	NP_036234.3:p.?	NC_000001.10:g.8421940C>T	(Likely) benign	1 lab	de2699e65f
5:157170787 LSM11 C>G	5	157170787	157170787	C	G	LSM11	c.29C>G	NM_173491.4	NP_775762.1:p.(Ser10Trp)	NC_000005.9:g.157170787C>G	(Likely) benign	1 lab	fd18b62d5f
12:6442974 TNFRSF1A C>G	12	6442974	6442974	C	G	TNFRSF1A	c.251G>C	NM_001065.3	NP_001056.1:p.(Cys84Ser)	NC_000012.11:g.6442974C>G	(Likely) pathogenic	1 lab	fd18c90696
21:32639278 TIAM1 G>A	21	32639278	32639278	G	A	TIAM1	c.11C>T	NM_003253.3	NP_003244.2:p.(Ala4Val)	NC_000021.8:g.32639278G>A	VUS	1 lab	de2c9f1f6b
12:111734289 CUX2 C>T	12	111734289	111734289	C	T	CUX2	c.650C>T	NM_015267.4	NP_056082.2:p.(Thr217Met)	NC_000012.11:g.111734289C>T	VUS	1 lab	de306ac531
4:9998213 SLC2A9 A>AGCCTG	4	9998213	9998218	A	AGCCTG	SLC2A9	c.410+187_410+191dup	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9998214_9998218dup	(Likely) benign	1 lab	fd2861ec6a
9:138664522 KCNT1 G>A	9	138664522	138664522	G	A	KCNT1	c.2009-39G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138664522G>A	(Likely) benign	1 lab	fd29c44213
2:166164259 SCN2A G>T	2	166164259	166164259	G	T	SCN2A	c.387-99G>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166164259G>T	(Likely) benign	1 lab	fd29ec91e3
X:153220160 HCFC1 C>T	X	153220160	153220160	C	T	HCFC1	c.3690G>A	NM_005334.3	NP_005325.2:p.(Ala1230=)	NC_000023.10:g.153220160C>T	(Likely) benign	1 lab	fd2c9fc0bd
X:30738207 GK C>T	X	30738207	30738207	C	T	GK	c.1231C>T	NM_203391.3	NP_976325.1:p.(Arg411Ter)	NC_000023.10:g.30738207C>T	(Likely) pathogenic	1 lab	fd2e3fca8d
11:126162685 TIRAP C>T	11	126162685	126162685	C	T	TIRAP	c.381C>T	NM_001039661.1	NP_001034750.1:p.(Gly127=)	NC_000011.9:g.126162685C>T	(Likely) benign	1 lab	fd3049e513
17:56356910 MPO G>A	17	56356910	56356910	G	A	MPO	c.522C>T	NM_000250.1	NP_000241.1:p.(Arg174=)	NC_000017.10:g.56356910G>A	(Likely) benign	1 lab	fd36801522
12:110019253 MVK G>A	12	110019253	110019253	G	A	MVK	c.425G>A	NM_000431.2	NP_000422.1:p.(Gly142Asp)	NC_000012.11:g.110019253G>A	VUS	1 lab	fd36cc564b
12:116413406 MED13L G>A	12	116413406	116413406	G	A	MED13L	c.5502C>T	NM_015335.4	NP_056150.1:p.(His1834=)	NC_000012.11:g.116413406G>A	(Likely) benign	1 lab	fd381a8f30
14:69521943 DCAF5 C>T	14	69521943	69521943	C	T	DCAF5	c.1457G>A	NM_001284206.1	NP_001271135.1:p.(Arg486Gln)	NC_000014.8:g.69521943C>T	VUS	1 lab	de327fe11a
19:35521684 SCN1B C>G	19	35521684	35521684	C	G	SCN1B	c.-41C>G	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35521684C>G	VUS	1 lab	fd3ef96eb4
X:73811456 RLIM T>C	X	73811456	73811456	T	C	RLIM	c.1694A>G	NM_183353.3	NP_899196.1:p.(Asp565Gly)	NC_000023.10:g.73811456T>C	VUS	1 lab	de33dde9e3
5:137213307 MYOT G>A	5	137213307	137213307	G	A	MYOT	c.630G>A	NM_006790.2	NP_006781.1:p.(Ser210=)	NC_000005.9:g.137213307G>A	(Likely) benign	1 lab	fd4a06d8de
2:231077517 SP110 A>C	2	231077517	231077517	A	C	SP110	c.542T>G	NM_004509.4	NP_004500.4:p.(Leu181Arg)	NC_000002.11:g.231077517A>C	(Likely) benign	1 lab	fd4a68430e
2:178936993 PDE11A TA>T	2	178936993	178936994	TA	T	PDE11A	c.171del	NM_016953.4	NP_058649.3:p.(Thr58ProfsTer41)	NC_000002.11:g.178936994del	(Likely) benign	1 lab	de35a9acc8
4:2833412 SH3BP2 G>A	4	2833412	2833412	G	A	SH3BP2	c.1350+6G>A	NM_003023.4	NP_003014.3:p.?	NC_000004.11:g.2833412G>A	(Likely) benign	1 lab	fd51cd5a1f
1:11199680 MTOR G>A	1	11199680	11199680	G	A	MTOR	c.4908C>T	NM_004958.3	NP_004949.1:p.(Ile1636=)	NC_000001.10:g.11199680G>A	(Likely) benign	1 lab	fd53689082
19:36341871 NPHS1 ATGG>A	19	36341871	36341876	ATGG	A	NPHS1	c.515_517del	NM_004646.4	NP_004637.1:p.(Thr172del)	NC_000019.9:g.36341874_36341876del	(Likely) pathogenic	1 lab	fd5a9c0eb2
2:31620519 XDH G>A	2	31620519	31620519	G	A	XDH	c.495+15C>T	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31620519G>A	(Likely) benign	1 lab	fd5dd03097
13:32905219 BRCA2 AT>A	13	32905219	32905231	AT	A	BRCA2	c.793+64del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905231del	(Likely) benign	1 lab	fd5f332564
X:154090051 F8 C>T	X	154090051	154090051	C	T	F8	c.6665G>A	NM_000132.3	NP_000123.1:p.(Trp2222Ter)	NC_000023.10:g.154090051C>T	(Likely) pathogenic	1 lab	fd61799eff
5:94842724 SKIC3 A>C	5	94842724	94842724	A	C	SKIC3	c.3015-9T>G	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94842724A>C	(Likely) benign	1 lab	fd641c5138
21:44841024 SIK1 C>T	21	44841024	44841024	C	T	SIK1	c.625-11G>A	NM_173354.5	NP_775490.2:p.?	NC_000021.8:g.44841024C>T	(Likely) benign	1 lab	fd692c6ed0
5:126770452 MEGF10 C>T	5	126770452	126770452	C	T	MEGF10	c.1914C>T	NM_032446.3	NP_115822.1:p.(Cys638=)	NC_000005.9:g.126770452C>T	(Likely) benign	1 lab	fd6e394f55
13:32921147 BRCA2 G>C	13	32921147	32921147	G	C	BRCA2	c.7007+114G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32921147G>C	(Likely) benign	1 lab	fd7a12bc9e
2:109374881 RANBP2 G>A	2	109374881	109374881	G	A	RANBP2	c.2479G>A	NM_006267.5	NP_006258.3:p.(Glu827Lys)	NC_000002.11:g.109374881G>A	VUS	1 lab	de3c28d9e7
4:126241072 FAT4 G>A	4	126241072	126241072	G	A	FAT4				NC_000004.11:g.126241072G>A	(Likely) benign	1 lab	fd823ae548
2:189868772 COL3A1 G>A	2	189868772	189868772	G	A	COL3A1	c.2726G>A	NM_000090.3	NP_000081.1:p.(Gly909Asp)	NC_000002.11:g.189868772G>A	(Likely) pathogenic	1 lab	fd845b19ad
9:130591965 ENG C>T	9	130591965	130591965	C	T	ENG	c.360+1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130591965C>T	(Likely) pathogenic	1 lab	fd8710c4ed
9:140611458 EHMT1 C>G	9	140611458	140611458	C	G	EHMT1	c.466C>G	NM_024757.5	NP_079033.4:p.(Pro156Ala)	NC_000009.11:g.140611458C>G	(Likely) benign	1 lab	fd875237f2
2:48026171 MSH6 C>T	2	48026171	48026171	C	T	MSH6	c.1049C>T	NM_000179.2	NP_000170.1:p.(Ala350Val)	NC_000002.11:g.48026171C>T	(Likely) benign	1 lab	fd8871206d
16:2143546 PKD1-AS1 C>T	16	2143546	2143546	C	T	PKD1-AS1	n.303+533C>T	NR_135175.1		NC_000016.9:g.2143546C>T	(Likely) benign	1 lab	fd8aa49dc8
7:18633643 HDAC9 C>T	7	18633643	18633643	C	T	HDAC9	c.646C>T	NM_178423.3	NP_848510.1:p.(Arg216Ter)	NC_000007.13:g.18633643C>T	(Likely) pathogenic	1 lab	fd8b1e917a
X:99596796 PCDH19 G>A	X	99596796	99596796	G	A	PCDH19	c.2848+105C>T	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99596796G>A	(Likely) benign	1 lab	fd8dcf7e03
13:39262171 FREM2 T>C	13	39262171	39262171	T	C	FREM2	c.690T>C	NM_207361.6	NP_997244.4:p.(Tyr230=)	NC_000013.10:g.39262171T>C	(Likely) benign	1 lab	fd9096f5ed
18:2937683 LPIN2 C>T	18	2937683	2937683	C	T	LPIN2	c.1168+7G>A	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2937683C>T	(Likely) benign	1 lab	fd94e2270c
18:19032044 GREB1L GCGATGACCTAGA>G	18	19032044	19032057	GCGATGACCTAGA	G	GREB1L	c.1852_1863del	NM_001142966.3	NP_001136438.1:p.(Asp618_Asp621del)	NC_000018.9:g.19032046_19032057del	(Likely) benign	1 lab	fd95df3b06
10:76744854 KAT6B G>A	10	76744854	76744854	G	A	KAT6B	c.2390G>A	NM_012330.4	NP_036462.2:p.(Ser797Asn)	NC_000010.10:g.76744854G>A	VUS	1 lab	de3e917e5e
14:64470058 SYNE2 G>A	14	64470058	64470058	G	A	SYNE2	c.4397+10G>A	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64470058G>A	(Likely) benign	1 lab	fd9e0d4a47
1:160320938 NCSTN C>T	1	160320938	160320938	C	T	NCSTN	c.583-74C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160320938C>T	(Likely) benign	1 lab	fd9e4a56d8
2:166852664 SCN1A T>C	2	166852664	166852664	T	C	SCN1A	c.4477-37A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166852664T>C	(Likely) benign	1 lab	fd9e6ed7fa
2:166848852 SCN1A G>A	2	166848852	166848852	G	A	SCN1A	c.4933C>T	NM_001165963.3	NP_001159435.1:p.(Arg1645Ter)	NC_000002.11:g.166848852G>A	(Likely) pathogenic	1 lab	fd9f90fc3e
12:88500552 CEP290 A>C	12	88500552	88500552	A	C	CEP290	c.2717T>G	NM_025114.4	NP_079390.3:p.(Leu906Trp)	NC_000012.11:g.88500552A>C	(Likely) benign	1 lab	fda1bc162b
6:83881667 PGM3 G>T	6	83881667	83881667	G	T	PGM3	c.1438C>A	NM_001199917.2	NP_001186846.1:p.(Leu480Ile)	NC_000006.11:g.83881667G>T	(Likely) benign	1 lab	fda4cd7583
1:247588632 NLRP3 A>T	1	247588632	247588632	A	T	NLRP3	c.1881A>T	NM_001243133.2	NP_001230062.1:p.(Glu627Asp)	NC_000001.10:g.247588632A>T	(Likely) pathogenic	1 lab	fda69e1a8a
X:153217620 HCFC1 G>A	X	153217620	153217620	G	A	HCFC1	c.4943-11C>T	NM_005334.3	NP_005325.2:p.?	NC_000023.10:g.153217620G>A	(Likely) benign	1 lab	fdae4f851c
12:49420540 KMT2D T>C	12	49420540	49420540	T	C	KMT2D	c.15209A>G	NM_003482.4	NP_003473.3:p.(Tyr5070Cys)	NC_000012.11:g.49420540T>C	VUS	1 lab	de42d711bc
3:49413033 RHOA CA>C	3	49413033	49413037	CA	C	RHOA	c.-2-10del	NM_001664.4	NP_001655.1:p.?	NC_000003.11:g.49413037del	VUS	1 lab	de4fa3b669
1:158045912 KIRREL1 C>T	1	158045912	158045912	C	T	KIRREL1	c.62C>T	NM_018240.7	NP_060710.3:p.(Thr21Ile)	NC_000001.10:g.158045912C>T	(Likely) benign	1 lab	fdb1cc6abd
9:138657613 KCNT1 G>A	9	138657613	138657613	G	A	KCNT1	c.1337+7G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138657613G>A	(Likely) benign	1 lab	fdb3975298
5:139941734 APBB3 G>A	5	139941734	139941734	G	A	APBB3	c.577C>T	NM_006051.3	NP_006042.3:p.(Gln193Ter)	NC_000005.9:g.139941734G>A	(Likely) pathogenic	1 lab	fdb51f0efc
4:186456511 PDLIM3 A>C	4	186456511	186456511	A	C	PDLIM3	c.78T>G	NM_014476.6	NP_055291.2:p.(Pro26=)	NC_000004.11:g.186456511A>C	(Likely) benign	1 lab	fdb644f480
9:138661896 KCNT1 C>T	9	138661896	138661896	C	T	KCNT1	c.1614C>T	NM_020822.2	NP_065873.2:p.(Arg538=)	NC_000009.11:g.138661896C>T	(Likely) benign	1 lab	fdb704e7c7
16:88783071 PIEZO1 G>A	16	88783071	88783071	G	A	PIEZO1	c.6822C>T	NM_001142864.4	NP_001136336.2:p.(Ser2274=)	NC_000016.9:g.88783071G>A	(Likely) benign	1 lab	fdbad54e88
X:153609109 EMD G>T	X	153609109	153609109	G	T	EMD	c.400-4G>T	NM_000117.2	NP_000108.1:p.?	NC_000023.10:g.153609109G>T	(Likely) benign	1 lab	fdc057b0bf
6:49578876 RHAG A>G	6	49578876	49578876	A	G	RHAG	c.946-18T>C	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49578876A>G	(Likely) benign	1 lab	fdc3b178a4
12:57501101 STAT6 C>T	12	57501101	57501101	C	T	STAT6	c.256-4G>A	NM_003153.5	NP_003144.3:p.?	NC_000012.11:g.57501101C>T	(Likely) benign	1 lab	fdc8a3f346
10:88681300 BMPR1A C>T	10	88681300	88681300	C	T	BMPR1A	c.1190C>T	NM_004329.2	NP_004320.2:p.(Pro397Leu)	NC_000010.10:g.88681300C>T	VUS	1 lab	fdcc439505
8:143958154 CYP11B1 G>A	8	143958154	143958154	G	A	CYP11B1	c.743C>T	NM_000497.3	NP_000488.3:p.(Thr248Ile)	NC_000008.10:g.143958154G>A	(Likely) benign	1 lab	fdcd9621a8
13:108862316 LIG4 GGTT>G	13	108862316	108862322	GGTT	G	LIG4	c.1298_1300del	NM_206937.2	NP_996820.1:p.(Gln433del)	NC_000013.10:g.108862320_108862322del	(Likely) pathogenic	1 lab	fdd1646a39
6:32945466 BRD2 A>G	6	32945466	32945466	A	G	BRD2	c.1330-68A>G	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32945466A>G	(Likely) benign	1 lab	fdd51483b1
6:152712720 SYNE1 A>AAAAAAAG	6	152712720	152712727	A	AAAAAAAG	SYNE1	c.7713-18_7713-17insCTTTTTT	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712726_152712727insGAAAAAA	(Likely) benign	1 lab	fdd6563f6e
11:108124753 ATM A>C	11	108124753	108124753	A	C	ATM	c.2111A>C	NM_000051.3	NP_000042.3:p.(Asn704Thr)	NC_000011.9:g.108124753A>C	(Likely) benign	1 lab	fdd8381e43
2:241816943 AGXT C>T	2	241816943	241816943	C	T	AGXT	c.847-11C>T	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241816943C>T	(Likely) benign	1 lab	fdd84b440e
12:110012687 MVK T>A	12	110012687	110012687	T	A	MVK	c.60T>A	NM_000431.2	NP_000422.1:p.(His20Gln)	NC_000012.11:g.110012687T>A	(Likely) pathogenic	1 lab	fddb21f9ed
5:90077028 ADGRV1 G>A	5	90077028	90077028	G	A	ADGRV1	c.13083-219G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90077028G>A	(Likely) benign	1 lab	fddd5a76cc
9:138662669 KCNT1 G>T	9	138662669	138662669	G	T	KCNT1	c.1770-34G>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138662669G>T	(Likely) benign	1 lab	fddec5522d
7:116411818 MET C>T	7	116411818	116411818	C	T	MET	c.2942-85C>T	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116411818C>T	(Likely) benign	1 lab	fddf8f0a65
4:108853216 CYP2U1 G>T	4	108853216	108853216	G	T	CYP2U1	c.417G>T	NM_183075.3	NP_898898.1:p.(Ala139=)	NC_000004.11:g.108853216G>T	(Likely) benign	1 lab	fde280e9ab
3:183888400 DVL3 CCCCCGCCGCCCGCGGCCATGGGGCCCCCAGGAG>C	3	183888400	183888437	CCCCCGCCGCCCGCGGCCATGGGGCCCCCAGGAG	C	DVL3	c.2013_2045del	NM_004423.4	NP_004414.3:p.(Pro673_Pro683del)	NC_000003.11:g.183888405_183888437del	VUS	1 lab	de5246ee72
2:217285447 SMARCAL1 C>T	2	217285447	217285447	C	T	SMARCAL1	c.1096+192C>T	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217285447C>T	(Likely) benign	1 lab	fde4a2e6d8
1:207512763 CD55 G>C	1	207512763	207512763	G	C	CD55	c.1081+1G>C	NM_000574.3	NP_000565.1:p.?	NC_000001.10:g.207512763G>C	VUS	1 lab	fde6557de2
17:76136989 TMC8 G>A	17	76136989	76136989	G	A	TMC8	c.1977G>A	NM_152468.4	NP_689681.2:p.(Pro659=)	NC_000017.10:g.76136989G>A	(Likely) benign	1 lab	fde7f4bc87
1:57395137 C8B A>C	1	57395137	57395137	A	C	C8B	c.1716T>G	NM_000066.2	NP_000057.1:p.(Pro572=)	NC_000001.10:g.57395137A>C	(Likely) benign	1 lab	fdeb6cdcb7
12:52306963 ACVRL1 G>A	12	52306963	52306963	G	A	ACVRL1	c.142G>A	NM_000020.2	NP_000011.2:p.(Gly48Arg)	NC_000012.11:g.52306963G>A	VUS	1 lab	fdf0fa3636
22:36701066 MYH9 C>A	22	36701066	36701066	C	A	MYH9	c.2229+13G>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36701066C>A	(Likely) benign	1 lab	fdf4b0ba12
4:2831353 SH3BP2 T>A	4	2831353	2831353	T	A	SH3BP2	c.804T>A	NM_001145855.2	NP_001139327.1:p.(Pro268=)	NC_000004.11:g.2831353T>A	(Likely) benign	1 lab	fdfc3ffd3a
8:48887452 MCM4 T>C	8	48887452	48887452	T	C	MCM4	c.2295T>C	NM_005914.4	NP_005905.2:p.(His765=)	NC_000008.10:g.48887452T>C	(Likely) benign	1 lab	fdfe1ae78f
15:49061152 CEP152 C>A	15	49061152	49061152	C	A	CEP152	c.1908+1G>T	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49061152C>A	(Likely) pathogenic	1 lab	fe0036a77f
1:236925741 ACTN2 A>G	1	236925741	236925741	A	G	ACTN2	c.2527-20A>G	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236925741A>G	(Likely) benign	1 lab	fe006f3b75
6:33405994 SYNGAP1 G>A	6	33405994	33405994	G	A	SYNGAP1	c.1312G>A	NM_006772.3	NP_006763.2:p.(Ala438Thr)	NC_000006.11:g.33405994G>A	(Likely) benign	1 lab	fe016ad793
22:23915479 IGLL1 T>A	22	23915479	23915479	T	A	IGLL1				NC_000022.10:g.23915479T>A	(Likely) benign	1 lab	fe07705dae
1:9770667 PIK3CD T>C	1	9770667	9770667	T	C	PIK3CD	c.141+13T>C	NM_005026.3	NP_005017.3:p.?	NC_000001.10:g.9770667T>C	(Likely) benign	1 lab	fe0c89a0b3
6:53370107 GCLC T>C	6	53370107	53370107	T	C	GCLC	c.1395+83A>G	NM_001498.4	NP_001489.1:p.?	NC_000006.11:g.53370107T>C	(Likely) benign	1 lab	de5740a2cf
7:158684005 DYNC2I1 C>T	7	158684005	158684005	C	T	DYNC2I1	c.1040C>T	NM_018051.5	NP_060521.4:p.(Pro347Leu)	NC_000007.13:g.158684005C>T	(Likely) benign	1 lab	fe19274504
X:53449336 SMC1A A>AG	X	53449336	53449338	A	AG	SMC1A	c.109+104dup	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53449338dup	(Likely) benign	1 lab	fe1d0898aa
2:48688285 PPP1R21 A>T	2	48688285	48688285	A	T	PPP1R21	c.608A>T	NM_001135629.3	NP_001129101.1:p.(Gln203Leu)	NC_000002.11:g.48688285A>T	VUS	1 lab	de57d15bc1
9:135161766 SETX GA>G	9	135161766	135161779	GA	G	SETX	c.6396+43del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135161779del	(Likely) benign	1 lab	fe2458b734
13:39452934 FREM2 C>T	13	39452934	39452934	C	T	FREM2	c.8860-34C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452934C>T	(Likely) benign	1 lab	fe262f08d1
14:65271753 SPTB C>T	14	65271753	65271753	C	T	SPTB	c.204G>A	NM_001355436.2	NP_001342365.1:p.(Leu68=)	NC_000014.8:g.65271753C>T	(Likely) benign	1 lab	fe2bc01cea
11:128709004 KCNJ1 C>T	11	128709004	128709004	C	T	KCNJ1	c.*16G>A	NM_000220.6	NP_000211.1:p.?	NC_000011.9:g.128709004C>T	(Likely) benign	1 lab	fe2f222792
19:17937627 JAK3 G>A	19	17937627	17937627	G	A	JAK3	c.3300C>T	NM_000215.3	NP_000206.2:p.(Ser1100=)	NC_000019.9:g.17937627G>A	(Likely) benign	1 lab	fe300b1455
5:169533269 FOXI1 G>C	5	169533269	169533269	G	C	FOXI1	c.308G>C	NM_012188.5	NP_036320.2:p.(Gly103Ala)	NC_000005.9:g.169533269G>C	(Likely) benign	1 lab	fe319d662c
16:3299512 MEFV G>A	16	3299512	3299512	G	A	MEFV	c.1179C>T	NM_000243.2	NP_000234.1:p.(Pro393=)	NC_000016.9:g.3299512G>A	(Likely) benign	1 lab	fe34225b04
16:3299015 MEFV A>C	16	3299015	3299015	A	C	MEFV	c.1261-11T>G	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3299015A>C	(Likely) benign	1 lab	ff05d314ef
1:27057761 ARID1A C>T	1	27057761	27057761	C	T	ARID1A	c.1469C>T	NM_006015.6	NP_006006.3:p.(Pro490Leu)	NC_000001.10:g.27057761C>T	VUS	1 lab	de57e9714f
11:64574700 MEN1 C>T	11	64574700	64574700	C	T	MEN1	c.799-9G>A	NM_130803.2	NP_570715.1:p.?	NC_000011.9:g.64574700C>T	(Likely) pathogenic	1 lab	fe39886654
19:10257193 DNMT1 C>A	19	10257193	10257193	C	A	DNMT1	c.2728G>T	NM_001130823.1	NP_001124295.1:p.(Val910Leu)	NC_000019.9:g.10257193C>A	(Likely) benign	1 lab	fe3d4b618d
1:247587867 NLRP3 C>T	1	247587867	247587867	C	T	NLRP3	c.1116C>T	NM_001243133.2	NP_001230062.1:p.(Ser372=)	NC_000001.10:g.247587867C>T	(Likely) benign	1 lab	fe4218ed79
7:87056130 ABCB4 G>A	7	87056130	87056130	G	A	ABCB4	c.2000C>T	NM_000443.4	NP_000434.1:p.(Thr667Ile)	NC_000007.13:g.87056130G>A	VUS	1 lab	de5820560c
16:70292085 AARS1 C>T	16	70292085	70292085	C	T	AARS1	c.2028G>A	NM_001605.2	NP_001596.2:p.(Ala676=)	NC_000016.9:g.70292085C>T	(Likely) benign	1 lab	fe4d57b2bd
13:32949511 BRCA2 A>G	13	32949511	32949511	A	G	BRCA2	c.8633-1296A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32949511A>G	(Likely) benign	1 lab	fe534e2047
2:191899262 STAT4 G>A	2	191899262	191899262	G	A	STAT4	c.1620+12C>T	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191899262G>A	(Likely) benign	1 lab	fe535cdd94
1:247587659 NLRP3 A>G	1	247587659	247587659	A	G	NLRP3	c.908A>G	NM_001243133.2	NP_001230062.1:p.(Asp303Gly)	NC_000001.10:g.247587659A>G	(Likely) pathogenic	1 lab	fe55c1369f
16:3293393 MEFV C>A	16	3293393	3293393	C	A	MEFV	c.2094G>T	NM_000243.2	NP_000234.1:p.(Glu698Asp)	NC_000016.9:g.3293393C>A	VUS	1 lab	fe59314c63
9:135224513 SETX CA>C	9	135224513	135224524	CA	C	SETX	c.177+125del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135224524del	(Likely) benign	1 lab	fe59c73d91
5:140951535 DIAPH1 G>C	5	140951535	140951535	G	C	DIAPH1	c.2431C>G	NM_005219.5	NP_005210.3:p.(Leu811Val)	NC_000005.9:g.140951535G>C	VUS	1 lab	de5998e66f
14:91773568 CCDC88C T>C	14	91773568	91773568	T	C	CCDC88C	c.3009A>G	NM_001080414.4	NP_001073883.2:p.(Leu1003=)	NC_000014.8:g.91773568T>C	(Likely) benign	1 lab	de5a20c40f
19:50167912 IRF3 C>T	19	50167912	50167912	C	T	IRF3	c.165+19G>A	NM_001571.6	NP_001562.1:p.?	NC_000019.9:g.50167912C>T	(Likely) benign	1 lab	fe5dc5ef50
22:23922098 IGLL1 C>T	22	23922098	23922098	C	T	IGLL1				NC_000022.10:g.23922098C>T	(Likely) benign	1 lab	fe60b3fae9
12:6442929 TNFRSF1A C>T	12	6442929	6442929	C	T	TNFRSF1A	c.296G>A	NM_001065.3	NP_001056.1:p.(Cys99Tyr)	NC_000012.11:g.6442929C>T	(Likely) pathogenic	1 lab	fe63661e10
5:74017080 HEXB CTG>C	5	74017080	74017083	CTG	C	HEXB	c.*82_*83del	NM_000521.4	NP_000512.2:p.?	NC_000005.9:g.74017082_74017083del	(Likely) benign	1 lab	fe66538deb
19:1468154 APC2 C>T	19	1468154	1468154	C	T	APC2	c.4854C>T	NM_005883.2	NP_005874.1:p.(Ser1618=)	NC_000019.9:g.1468154C>T	(Likely) benign	1 lab	fe6bd0f1b1
X:47445297 SYN1 C>T	X	47445297	47445297	C	T	SYN1	c.775-8397G>A	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47445297C>T	(Likely) benign	1 lab	fe6cb7dcb7
14:35872989 NFKBIA G>A	14	35872989	35872989	G	A	NFKBIA	c.243C>T	NM_020529.2	NP_065390.1:p.(Ala81=)	NC_000014.8:g.35872989G>A	(Likely) benign	1 lab	fe700ae3ce
2:24477313 ITSN2 TAAAC>T	2	24477313	24477340	TAAAC	T	ITSN2	c.2889-17_2889-14del	NM_006277.3	NP_006268.2:p.?	NC_000002.11:g.24477337_24477340del	(Likely) benign	1 lab	fe70c83121
20:61992547 CHRNA4 G>C	20	61992547	61992547	G	C	CHRNA4	c.-30C>G	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61992547G>C	(Likely) benign	1 lab	fe724d648e
6:32811629 PSMB8 G>T	6	32811629	32811629	G	T	PSMB8	c.145C>A	NM_148919.4	NP_683720.2:p.(Gln49Lys)	NC_000006.11:g.32811629G>T	(Likely) benign	1 lab	fe7682b010
5:154305649 GEMIN5 G>A	5	154305649	154305649	G	A	GEMIN5	c.1081-15C>T	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154305649G>A	(Likely) benign	1 lab	fe79f64001
5:37157624 CPLANE1 G>A	5	37157624	37157624	G	A	CPLANE1	c.7957+148C>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37157624G>A	(Likely) benign	1 lab	fe7d7cda89
15:72227669 MYO9A G>T	15	72227669	72227669	G	T	MYO9A	c.2522+13C>A	NM_006901.4	NP_008832.2:p.?	NC_000015.9:g.72227669G>T	(Likely) benign	1 lab	fe7e8247bc
1:235611990 TBCE G>A	1	235611990	235611990	G	A	TBCE	c.1497G>A	NM_001079515.2	NP_001072983.1:p.(Pro499=)	NC_000001.10:g.235611990G>A	(Likely) benign	1 lab	fe827b8918
5:169097525 DOCK2 G>GTTT	5	169097525	169097529	G	GTTT	DOCK2	c.169-19_169-17dup	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169097527_169097529dup	(Likely) benign	1 lab	fe8315e146
X:154189458 F8 G>T	X	154189458	154189458	G	T	F8	c.1444-15C>A	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154189458G>T	(Likely) pathogenic	1 lab	fe8322beb8
10:75230635 PPP3CB G>C	10	75230635	75230635	G	C	PPP3CB	c.887+10C>G	NM_001142353.2	NP_001135825.1:p.?	NC_000010.10:g.75230635G>C	(Likely) benign	1 lab	fe8347f55b
19:52249614 FPR1 C>T	19	52249614	52249614	C	T	FPR1	c.634G>A	NM_002029.3	NP_002020.1:p.(Ala212Thr)	NC_000019.9:g.52249614C>T	(Likely) benign	1 lab	fe849c0564
6:43516068 XPO5 G>A	6	43516068	43516068	G	A	XPO5	c.1990C>T	NM_020750.3	NP_065801.1:p.(Arg664Cys)	NC_000006.11:g.43516068G>A	VUS	1 lab	de6822f6d3
2:212587164 ERBB4 G>A	2	212587164	212587164	G	A	ERBB4	c.837C>T	NM_005235.3	NP_005226.1:p.(Phe279=)	NC_000002.11:g.212587164G>A	(Likely) benign	1 lab	fe9d93ed9d
18:29118909 DSG2 C>T	18	29118909	29118909	C	T	DSG2	c.1847C>T	NM_001943.3	NP_001934.2:p.(Ala616Val)	NC_000018.9:g.29118909C>T	(Likely) benign	1 lab	fe9e56098e
1:114380591 PTPN22 A>G	1	114380591	114380591	A	G	PTPN22	c.1431T>C	NM_015967.6	NP_057051.3:p.(His477=)	NC_000001.10:g.114380591A>G	(Likely) benign	1 lab	fea4c799de
8:41547864 ANK1 C>A	8	41547864	41547864	C	A	ANK1	c.4108G>T	NM_001142446.2	NP_001135918.1:p.(Val1370Leu)	NC_000008.10:g.41547864C>A	VUS	1 lab	fea4d0d86a
12:110019277 MVK C>T	12	110019277	110019277	C	T	MVK	c.449C>T	NM_000431.2	NP_000422.1:p.(Ser150Leu)	NC_000012.11:g.110019277C>T	(Likely) pathogenic	1 lab	fea5b8ce67
X:79282224 TBX22 A>C	X	79282224	79282224	A	C	TBX22	c.655A>C	NM_001109878.2	NP_001103348.1:p.(Lys219Gln)	NC_000023.10:g.79282224A>C	VUS	1 lab	fea6717e9e
2:128046934 ERCC3 T>C	2	128046934	128046934	T	C	ERCC3	c.801A>G	NM_000122.1	NP_000113.1:p.(Thr267=)	NC_000002.11:g.128046934T>C	(Likely) benign	1 lab	fea81d179a
2:73659389 ALMS1 G>C	2	73659389	73659389	G	C	ALMS1	c.1405G>C	NM_015120.4	NP_055935.4:p.(Val469Leu)	NC_000002.11:g.73659389G>C	(Likely) benign	1 lab	fea9c69ef4
20:31380568 DNMT3B C>T	20	31380568	31380568	C	T	DNMT3B	c.1058C>T	NM_006892.3	NP_008823.1:p.(Thr353Met)	NC_000020.10:g.31380568C>T	(Likely) benign	1 lab	feab2568b0
10:101841153 CPN1 A>G	10	101841153	101841153	A	G	CPN1	c.223+7T>C	NM_001308.3	NP_001299.1:p.?	NC_000010.10:g.101841153A>G	(Likely) benign	1 lab	de6984fd97
X:106069357 TBC1D8B G>A	X	106069357	106069357	G	A	TBC1D8B	c.925G>A	NM_017752.3	NP_060222.2:p.(Val309Ile)	NC_000023.10:g.106069357G>A	(Likely) benign	1 lab	febaac376e
1:235543477 TBCE T>G	1	235543477	235543477	T	G	TBCE	c.100+13T>G	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235543477T>G	(Likely) benign	1 lab	feca6e0dad
3:176768330 TBL1XR1 G>A	3	176768330	176768330	G	A	TBL1XR1	c.496C>T	NM_001321194.3	NP_001308123.1:p.(Arg166Trp)	NC_000003.11:g.176768330G>A	VUS	1 lab	de6c60b666
2:73653700 ALMS1 A>G	2	73653700	73653700	A	G	ALMS1	c.1341+19A>G	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73653700A>G	(Likely) benign	1 lab	fecd95c448
14:54417304 BMP4 T>C	14	54417304	54417304	T	C	BMP4	c.673A>G	NM_001202.6	NP_001193.2:p.(Thr225Ala)	NC_000014.8:g.54417304T>C	(Likely) benign	1 lab	de700ac59b
1:160321359 NCSTN C>T	1	160321359	160321359	C	T	NCSTN	c.734-127C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160321359C>T	(Likely) benign	1 lab	fed17771bc
4:128842569 MFSD8 G>T	4	128842569	128842569	G	T	MFSD8	c.1350+110C>A	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128842569G>T	(Likely) benign	1 lab	fed2065497
9:125145985 PTGS1 C>G	9	125145985	125145985	C	G	PTGS1	c.960C>G	NM_000962.4	NP_000953.2:p.(Pro320=)	NC_000009.11:g.125145985C>G	(Likely) benign	1 lab	fed6568c88
8:100729602 VPS13B G>A	8	100729602	100729602	G	A	VPS13B	c.6732+1G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100729602G>A	(Likely) pathogenic	1 lab	fed6907ab7
4:149116017 NR3C2 A>G	4	149116017	149116017	A	G	NR3C2	c.1898-4T>C	NM_000901.5	NP_000892.2:p.?	NC_000004.11:g.149116017A>G	(Likely) benign	1 lab	feddea0120
17:7124768 ACADVL T>C	17	7124768	7124768	T	C	ACADVL	c.250-89T>C	NM_001270448.1	NP_001257377.1:p.?	NC_000017.10:g.7124768T>C	(Likely) benign	1 lab	fedf02ce4d
12:6442631 TNFRSF1A C>A	12	6442631	6442631	C	A	TNFRSF1A	c.374G>T	NM_001065.3	NP_001056.1:p.(Cys125Phe)	NC_000012.11:g.6442631C>A	(Likely) pathogenic	1 lab	fedff78970
5:125895126 ALDH7A1 G>T	5	125895126	125895126	G	T	ALDH7A1	c.914-100C>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125895126G>T	(Likely) benign	1 lab	fee2b870e4
1:196695987 CFH A>G	1	196695987	196695987	A	G	CFH	c.2153A>G	NM_000186.3	NP_000177.2:p.(Asn718Ser)	NC_000001.10:g.196695987A>G	(Likely) benign	1 lab	fee73f5a2d
9:137620520 COL5A1 C>T	9	137620520	137620520	C	T	COL5A1	c.791C>T	NM_000093.4	NP_000084.3:p.(Thr264Met)	NC_000009.11:g.137620520C>T	VUS	1 lab	fee89c8904
5:177576759 NHP2 G>A	5	177576759	177576759	G	A	NHP2	c.417C>T	NM_017838.3	NP_060308.1:p.(Tyr139=)	NC_000005.9:g.177576759G>A	(Likely) benign	1 lab	feeb85bfbc
9:141016353 CACNA1B C>T	9	141016353	141016353	C	T	CACNA1B	c.6922C>T	NM_000718.4	NP_000709.1:p.(Arg2308Cys)	NC_000009.11:g.141016353C>T	VUS	1 lab	de7021c77c
1:23233263 EPHB2 T>C	1	23233263	23233263	T	C	EPHB2	c.1949T>C	NM_017449.4	NP_059145.2:p.(Val650Ala)	NC_000001.10:g.23233263T>C	(Likely) benign	1 lab	feec2cc9fd
9:77502393 TRPM6 T>TCA	9	77502393	77502395	T	TCA	TRPM6	c.33+345_33+346dup	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77502394_77502395dup	(Likely) benign	1 lab	feedb178b9
10:72604355 SGPL1 G>A	10	72604355	72604355	G	A	SGPL1	c.153G>A	NM_003901.4	NP_003892.2:p.(Leu51=)	NC_000010.10:g.72604355G>A	(Likely) benign	1 lab	feee62ce20
1:3342776 PRDM16 C>T	1	3342776	3342776	C	T	PRDM16	c.3271C>T	NM_022114.4	NP_071397.3:p.(Arg1091Ter)	NC_000001.10:g.3342776C>T	(Likely) pathogenic	1 lab	fef29de492
2:179448982 TTN T>TCAA	2	179448982	179448983	T	TCAA	TTN	c.65275+20_65275+21insTTG	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448982_179448983insCAA	(Likely) benign	1 lab	de72b511db
18:33713287 ELP2 T>A	18	33713287	33713287	T	A	ELP2	c.217+8T>A	NM_001242875.3	NP_001229804.1:p.?	NC_000018.9:g.33713287T>A	(Likely) benign	1 lab	de7409d15f
16:3714411 TRAP1 C>CCGG	16	3714411	3714414	C	CCGG	TRAP1	c.1430_1432dup	NM_016292.3	NP_057376.2:p.(Ser477_Gly478insAla)	NC_000016.9:g.3714412_3714414dup	(Likely) benign	1 lab	fef6b39e1c
16:3304646 MEFV C>A	16	3304646	3304646	C	A	MEFV	c.422G>T	NM_000243.2	NP_000234.1:p.(Ser141Ile)	NC_000016.9:g.3304646C>A	VUS	1 lab	fef79b5019
5:14406001 TRIO C>T	5	14406001	14406001	C	T	TRIO	c.4761C>T	NM_007118.4	NP_009049.2:p.(Arg1587=)	NC_000005.9:g.14406001C>T	(Likely) benign	1 lab	fefc2c81b8
12:110032960 MVK G>A	12	110032960	110032960	G	A	MVK	c.1013G>A	NM_000431.2	NP_000422.1:p.(Gly338Asp)	NC_000012.11:g.110032960G>A	(Likely) pathogenic	1 lab	feff06168e
2:179403950 TTN TGGA>T	2	179403950	179403956	TGGA	T	TTN	c.98709_98711del	NM_001267550.2	NP_001254479.2:p.(Pro32904del)	NC_000002.11:g.179403954_179403956del	VUS	1 lab	fefff1cb8c
18:2923869 LPIN2 C>T	18	2923869	2923869	C	T	LPIN2	c.2088-10G>A	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2923869C>T	(Likely) benign	1 lab	ff002836f7
7:92077307 GATAD1 C>T	7	92077307	92077307	C	T	GATAD1	c.249+15C>T	NM_021167.5	NP_066990.3:p.?	NC_000007.13:g.92077307C>T	(Likely) benign	1 lab	ff0190ce1d
8:145641417 SLC39A4 G>A	8	145641417	145641417	G	A	SLC39A4	c.176C>T	NM_017767.3	NP_060237.3:p.(Pro59Leu)	NC_000008.10:g.145641417G>A	(Likely) benign	1 lab	ff0c3a4606
3:10183800 VHL A>T	3	10183800	10183800	A	T	VHL	c.269A>T	NM_000551.3	NP_000542.1:p.(Asn90Ile)	NC_000003.11:g.10183800A>T	(Likely) pathogenic	1 lab	ff0f150b57
4:79351572 FRAS1 G>GTAGC	4	79351572	79351578	G	GTAGC	FRAS1	c.4969+4_4969+7dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79351575_79351578dup	(Likely) benign	1 lab	ff0f8c8ccb
19:54314119 NLRP12 T>C	19	54314119	54314119	T	C	NLRP12	c.794A>G	NM_144687.4	NP_653288.1:p.(Gln265Arg)	NC_000019.9:g.54314119T>C	VUS	1 lab	ff1443d9b8
16:1255202 CACNA1H G>T	16	1255202	1255202	G	T	CACNA1H	c.2540G>T	NM_021098.3	NP_066921.2:p.(Cys847Phe)	NC_000016.9:g.1255202G>T	(Likely) benign	1 lab	ff167d4e9d
10:95931169 PLCE1 C>T	10	95931169	95931169	C	T	PLCE1	c.1725C>T	NM_016341.3	NP_057425.3:p.(Leu575=)	NC_000010.10:g.95931169C>T	(Likely) benign	1 lab	ff1774d6a0
14:67567542 GPHN T>C	14	67567542	67567542	T	C	GPHN	c.1238-31T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67567542T>C	(Likely) benign	1 lab	ff179d41b9
1:158618223 SPTA1 C>T	1	158618223	158618223	C	T	SPTA1	c.3714+76G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158618223C>T	(Likely) benign	1 lab	ff2183a00c
6:157527926 ARID1B G>C	6	157527926	157527926	G	C	ARID1B	c.5900G>C	NM_001371656.1	NP_001358585.1:p.(Arg1967Pro)	NC_000006.11:g.157527926G>C	(Likely) benign	1 lab	ff236d519c
1:63877000 ALG6 G>T	1	63877000	63877000	G	T	ALG6	c.678G>T	NM_013339.4	NP_037471.2:p.(Lys226Asn)	NC_000001.10:g.63877000G>T	(Likely) benign	1 lab	ff28b56eec
1:116269607 CASQ2 A>T	1	116269607	116269607	A	T	CASQ2	c.737+6T>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116269607A>T	(Likely) pathogenic	1 lab	ff2b34443d
16:3293531 MEFV G>T	16	3293531	3293531	G	T	MEFV	c.1956C>A	NM_000243.2	NP_000234.1:p.(Arg652=)	NC_000016.9:g.3293531G>T	(Likely) benign	1 lab	ff2b359bef
2:109392410 RANBP2 T>C	2	109392410	109392410	T	C	RANBP2	c.8497+18T>C	NM_006267.4	NP_006258.3:p.?	NC_000002.11:g.109392410T>C	(Likely) benign	1 lab	ff2b6d76f1
17:61564052 ACE A>G	17	61564052	61564052	A	G	ACE	c.2193A>G	NM_000789.4	NP_000780.1:p.(Ala731=)	NC_000017.10:g.61564052A>G	(Likely) benign	1 lab	de75e2a1ff
12:6443274 TNFRSF1A C>G	12	6443274	6443274	C	G	TNFRSF1A	c.176G>C	NM_001065.3	NP_001056.1:p.(Cys59Ser)	NC_000012.11:g.6443274C>G	(Likely) pathogenic	1 lab	ff30aa54d4
7:73477654 ELN G>A	7	73477654	73477654	G	A	ELN	c.2059G>A	NM_001278939.1	NP_001265868.1:p.(Ala687Thr)	NC_000007.13:g.73477654G>A	VUS	1 lab	ff3197c77d
3:49136630 QARS1 C>A	3	49136630	49136630	C	A	QARS1	c.1671G>T	NM_005051.3	NP_005042.1:p.(Val557=)	NC_000003.11:g.49136630C>A	(Likely) benign	1 lab	ff33ddbe53
9:124089661 GSN G>A	9	124089661	124089661	G	A	GSN	c.1663G>A	NM_001353053.1	NP_001339982.1:p.(Val555Met)	NC_000009.11:g.124089661G>A	(Likely) benign	1 lab	ff36403cb2
4:129867228 SCLT1 C>T	4	129867228	129867228	C	T	SCLT1	c.1373G>A	NM_144643.4	NP_653244.2:p.(Arg458His)	NC_000004.11:g.129867228C>T	(Likely) benign	1 lab	ff36e8b13f
12:53453668 TNS2 C>T	12	53453668	53453668	C	T	TNS2	c.2273C>T	NM_015319.2	NP_056134.2:p.(Pro758Leu)	NC_000012.11:g.53453668C>T	(Likely) benign	1 lab	ff3970352d
22:51159012 SHANK3 A>C	22	51159012	51159012	A	C	SHANK3	c.2976A>C	NM_001372044.1	NP_001358973.1:p.(Arg992=)	NC_000022.10:g.51159012A>C	VUS	1 lab	ff39fcf06c
1:237868504 RYR2 C>T	1	237868504	237868504	C	T	RYR2	c.9450-9C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237868504C>T	(Likely) benign	1 lab	ff3b35a18f
9:128088774 GAPVD1 C>T	9	128088774	128088774	C	T	GAPVD1	c.1938C>T	NM_001282679.2	NP_001269608.1:p.(Asp646=)	NC_000009.11:g.128088774C>T	(Likely) benign	1 lab	ff3e370737
7:74197872 NCF1 G>A	7	74197872	74197872	G	A	NCF1	c.579G>A	NM_000265.7	NP_000256.4:p.(Trp193Ter)	NC_000007.13:g.74197872G>A	(Likely) pathogenic	1 lab	de7aaa8d22
4:110667509 CFI A>G	4	110667509	110667509	A	G	CFI	c.1298T>C	NM_000204.5	NP_000195.3:p.(Ile433Thr)	NC_000004.11:g.110667509A>G	VUS	1 lab	de7b79e5fb
16:30100300 TBX6 G>A	16	30100300	30100300	G	A	TBX6	c.585C>T	NM_004608.3	NP_004599.2:p.(Val195=)	NC_000016.9:g.30100300G>A	(Likely) benign	1 lab	ff4825be3d
X:107683501 COL4A5 T>TG	X	107683501	107683511	T	TG	COL4A5	c.81+75dup	NM_000495.5	NP_000486.1:p.?	NC_000023.10:g.107683511dup	(Likely) benign	1 lab	ff49aca707
16:89167416 ACSF3 C>T	16	89167416	89167416	C	T	ACSF3	c.327C>T	NM_001243279.3	NP_001230208.1:p.(Val109=)	NC_000016.9:g.89167416C>T	(Likely) benign	1 lab	ff5c2ba0b6
19:38987523 RYR1 G>T	19	38987523	38987523	G	T	RYR1	c.6820G>T	NM_000540.2	NP_000531.2:p.(Asp2274Tyr)	NC_000019.9:g.38987523G>T	(Likely) pathogenic	1 lab	ff780f9e2a
8:77617500 ZFHX4 G>C	8	77617500	77617500	G	C	ZFHX4	c.1177G>C	NM_024721.5	NP_078997.4:p.(Glu393Gln)	NC_000008.10:g.77617500G>C	(Likely) benign	1 lab	de7bc9b1d8
9:124064406 GSN AG>A	9	124064406	124064408	AG	A	GSN	c.312del	NM_000177.5	NP_000168.1:p.(Asn105ThrfsTer35)	NC_000009.11:g.124064408del	VUS	1 lab	de82dc4293
8:41790008 KAT6A A>G	8	41790008	41790008	A	G	KAT6A	c.5730T>C	NM_006766.5	NP_006757.2:p.(Asn1910=)	NC_000008.10:g.41790008A>G	(Likely) benign	1 lab	de830c3cd6
6:32946824 BRD2 G>GT	6	32946824	32946833	G	GT	BRD2	c.1842-34dup	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32946833dup	(Likely) benign	1 lab	ff693cbbf2
2:189927908 COL5A2 T>C	2	189927908	189927908	T	C	COL5A2	c.1859A>G	NM_000393.5	NP_000384.2:p.(Lys620Arg)	NC_000002.11:g.189927908T>C	VUS	1 lab	ff69a0f7ed
9:101900171 TGFBR1 C>T	9	101900171	101900171	C	T	TGFBR1	c.605C>T	NM_004612.4	NP_004603.1:p.(Ala202Val)	NC_000009.11:g.101900171C>T	(Likely) pathogenic	1 lab	ff6c8338a6
16:78466481 WWOX C>G	16	78466481	78466481	C	G	WWOX	c.888C>G	NM_016373.4	NP_057457.1:p.(Ser296=)	NC_000016.9:g.78466481C>G	(Likely) benign	1 lab	ff70abf979
2:202074097 CASP10 C>T	2	202074097	202074097	C	T	CASP10	c.1227C>T	NM_032977.3	NP_116759.2:p.(Ser409=)	NC_000002.11:g.202074097C>T	(Likely) benign	1 lab	ff7538493e
17:26732944 MISSING C>G	17	26732944	26732944	C	G	MISSING				NC_000017.10:g.26732944C>G	(Likely) benign	1 lab	ff76315913
19:35801539 MAG C>T	19	35801539	35801539	C	T	MAG	c.1609C>T	NM_002361.4	NP_002352.1:p.(Arg537Cys)	NC_000019.9:g.35801539C>T	(Likely) benign	1 lab	ff7697902b
17:78166404 CARD14 G>A	17	78166404	78166404	G	A	CARD14	c.1342G>A	NM_024110.4	NP_077015.2:p.(Val448Ile)	NC_000017.10:g.78166404G>A	(Likely) benign	1 lab	ff7f38317b
15:42671558 CAPN3 G>A	15	42671558	42671558	G	A	CAPN3	c.310-5123G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42671558G>A	(Likely) benign	1 lab	ff7f7e9de9
12:49420913 KMT2D C>T	12	49420913	49420913	C	T	KMT2D	c.14836G>A	NM_003482.3	NP_003473.3:p.(Val4946Ile)	NC_000012.11:g.49420913C>T	(Likely) benign	1 lab	ff82d859fd
15:91303809 BLM CT>C	15	91303809	91303813	CT	C	BLM	c.1221-11del	NM_000057.4	NP_000048.1:p.?	NC_000015.9:g.91303813del	(Likely) benign	1 lab	ff8bb3a6e1
7:138424359 ATP6V0A4 T>C	7	138424359	138424359	T	C	ATP6V0A4	c.1498A>G	NM_020632.3	NP_065683.2:p.(Ser500Gly)	NC_000007.13:g.138424359T>C	(Likely) benign	1 lab	ff8cefb7be
3:151073681 MED12L C>A	3	151073681	151073681	C	A	MED12L	c.2413-3C>A	NM_053002.5	NP_443728.3:p.?	NC_000003.11:g.151073681C>A	(Likely) benign	1 lab	de83c9b259
22:36688178 MYH9 G>A	22	36688178	36688178	G	A	MYH9	c.4198C>T	NM_002473.5	NP_002464.1:p.(Arg1400Trp)	NC_000022.10:g.36688178G>A	(Likely) benign	1 lab	ff9561e588
19:42384723 CD79A A>C	19	42384723	42384723	A	C	CD79A	c.499-14A>C	NM_001783.3	NP_001774.1:p.?	NC_000019.9:g.42384723A>C	(Likely) benign	1 lab	ff9c1a56bd
10:60563017 BICC1 A>T	10	60563017	60563017	A	T	BICC1	c.2181+15A>T	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60563017A>T	(Likely) benign	1 lab	ff9df2f02d
X:100652817 GLA A>C	X	100652817	100652817	A	C	GLA	c.1270T>G	NM_000169.2	NP_000160.1:p.(Ser424Ala)	NC_000023.10:g.100652817A>C	(Likely) benign	1 lab	ffa2bf1808
5:140953563 DIAPH1 T>TGGAGGAGGA	5	140953563	140953597	T	TGGAGGAGGA	DIAPH1	c.1845_1853dup	NM_005219.5	NP_005210.3:p.(Pro618_Pro620dup)	NC_000005.9:g.140953589_140953597dup	(Likely) benign	1 lab	ffa42aff98
16:2122389 TSC2 G>C	16	2122389	2122389	G	C	TSC2	c.2220+25G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122389G>C	(Likely) benign	1 lab	0080ebbc9c
3:148939510 CP A>G	3	148939510	148939510	A	G	CP	c.70T>C	NM_000096.4	NP_000087.2:p.(Tyr24His)	NC_000003.11:g.148939510A>G	VUS	1 lab	de89bb4048
20:22563618 FOXA2 G>A	20	22563618	22563618	G	A	FOXA2	c.262C>T	NM_021784.5	NP_068556.2:p.(Pro88Ser)	NC_000020.10:g.22563618G>A	VUS	1 lab	de8c5dd178
1:158639106 SPTA1 G>A	1	158639106	158639106	G	A	SPTA1	c.1833+92C>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158639106G>A	(Likely) benign	1 lab	ffa70732a1
2:166852399 SCN1A G>C	2	166852399	166852399	G	C	SCN1A	c.4581+124C>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166852399G>C	(Likely) benign	1 lab	ffa8a03fbd
20:6077698 FERMT1 G>A	20	6077698	6077698	G	A	FERMT1	c.958-18C>T	NM_017671.5	NP_060141.3:p.?	NC_000020.10:g.6077698G>A	(Likely) benign	1 lab	ffaab2c780
1:120286620 PHGDH C>A	1	120286620	120286620	C	A	PHGDH	c.1559C>A	NM_006623.4	NP_006614.2:p.(Ala520Glu)	NC_000001.10:g.120286620C>A	(Likely) benign	1 lab	ffaff008a2
9:138679874 KCNT1 C>T	9	138679874	138679874	C	T	KCNT1	c.3502+1507C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138679874C>T	(Likely) benign	1 lab	ffb61f4157
5:89910492 ADGRV1 C>G	5	89910492	89910492	C	G	ADGRV1	c.23-160C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910492C>G	(Likely) benign	1 lab	ffb70023c8
19:14863172 ADGRE2 AAG>A	19	14863172	14863176	AAG	A	ADGRE2	c.1755_1756del	NM_013447.4	NP_038475.2:p.(Phe586ProfsTer5)	NC_000019.9:g.14863175_14863176del	(Likely) benign	1 lab	ffb912ad42
2:179412772 TTN T>C	2	179412772	179412772	T	C	TTN	c.93581A>G	NM_001267550.2	NP_001254479.2:p.(Tyr31194Cys)	NC_000002.11:g.179412772T>C	VUS	1 lab	de9cb2723a
1:247587824 NLRP3 A>G	1	247587824	247587824	A	G	NLRP3	c.1073A>G	NM_001243133.2	NP_001230062.1:p.(His358Arg)	NC_000001.10:g.247587824A>G	(Likely) pathogenic	1 lab	ffbffa4bae
8:145638878 SLC39A4 G>A	8	145638878	145638878	G	A	SLC39A4	c.1474+19C>T	NM_130849.4	NP_570901.3:p.?	NC_000008.10:g.145638878G>A	(Likely) benign	1 lab	ffc263b131
16:3722697 TRAP1 G>A	16	3722697	3722697	G	A	TRAP1	c.1165+4C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3722697G>A	(Likely) benign	1 lab	ffc286d3d9
2:189943771 COL5A2 A>G	2	189943771	189943771	A	G	COL5A2	c.1005+18T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189943771A>G	(Likely) benign	1 lab	ffc725ced0
22:23438536 GNAZ C>T	22	23438536	23438536	C	T	GNAZ	c.654C>T	NM_002073.4	NP_002064.1:p.(Gly218=)	NC_000022.10:g.23438536C>T	(Likely) benign	1 lab	ffc759d65e
4:79350115 FRAS1 C>T	4	79350115	79350115	C	T	FRAS1	c.4712-134C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79350115C>T	(Likely) benign	1 lab	ffc9fa47aa
10:75856974 VCL CGGATG>C	10	75856974	75856979	CGGATG	C	VCL	c.1757_1761del	NM_014000.3	NP_054706.1:p.(Arg586ProfsTer31)	NC_000010.10:g.75856975_75856979del	VUS	1 lab	ffca182632
6:32945843 BRD2 T>A	6	32945843	32945843	T	A	BRD2	c.1579-60T>A	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32945843T>A	(Likely) benign	1 lab	ffcb6a9c01
14:94187907 PRIMA1 A>C	14	94187907	94187907	A	C	PRIMA1	c.360-15T>G	NM_178013.4	NP_821092.1:p.?	NC_000014.8:g.94187907A>C	(Likely) benign	1 lab	ffd06bfc96
22:32194700 DEPDC5 G>A	22	32194700	32194700	G	A	DEPDC5	c.946+58G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32194700G>A	(Likely) benign	1 lab	ffd66b9e52
2:232141451 ARMC9 G>A	2	232141451	232141451	G	A	ARMC9	c.1437G>A	NM_025139.6	NP_079415.4:p.(Ser479=)	NC_000002.11:g.232141451G>A	(Likely) benign	1 lab	ffe68f73ee
6:29910742 HLA-A G>C	6	29910742	29910742	G	C	HLA-A	c.282G>C	NM_002116.8	NP_002107.3:p.(Gln94His)	NC_000006.11:g.29910742G>C	(Likely) benign	1 lab	de9db32f00
8:116635688 TRPS1 G>A	8	116635688	116635688	G	A	TRPS1	c.37+140C>T	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116635688G>A	(Likely) benign	1 lab	ffe93e14f4
2:109381658 RANBP2 C>A	2	109381658	109381658	C	A	RANBP2	c.4663C>A	NM_006267.4	NP_006258.3:p.(Arg1555=)	NC_000002.11:g.109381658C>A	(Likely) benign	1 lab	ffea17eb72
3:189507514 TP63 G>GTCTC	3	189507514	189507518	G	GTCTC	TP63	c.-75_-72dup	NM_001114980.2	NP_001108452.1:p.?	NC_000003.11:g.189507515_189507518dup	(Likely) benign	1 lab	ffed9dda2c
2:88888321 EIF2AK3 C>T	2	88888321	88888321	C	T	EIF2AK3	c.1264G>A	NM_004836.7	NP_004827.4:p.(Ala422Thr)	NC_000002.11:g.88888321C>T	(Likely) benign	1 lab	ffee9113e3
4:86985608 MAPK10 A>T	4	86985608	86985608	A	T	MAPK10	c.986-65T>A	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.86985608A>T	(Likely) benign	1 lab	fff20c1ed7
1:214813792 CENPF A>G	1	214813792	214813792	A	G	CENPF	c.2111A>G	NM_016343.4	NP_057427.3:p.(Gln704Arg)	NC_000001.10:g.214813792A>G	(Likely) benign	1 lab	fffde2ebc8
2:152696028 CACNB4 A>C	2	152696028	152696028	A	C	CACNB4	c.1201-135T>G	NM_001005747.4	NP_001005747.1:p.?	NC_000002.11:g.152696028A>C	(Likely) benign	1 lab	0bc98a8f9c
5:160973808 GABRB2 TA>T	5	160973808	160973825	TA	T	GABRB2	c.-152-8del	NM_000813.2	NP_000804.1:p.?	NC_000005.9:g.160973825del	(Likely) benign	1 lab	0e2345c151
12:7188562 C1R G>T	12	7188562	7188562	G	T	C1R	c.1434C>A	NM_001354346.2	NP_001341275.1:p.(Ile478=)	NC_000012.11:g.7188562G>T	(Likely) benign	1 lab	0e8efe47b0
5:74806949 CERT1 C>T	5	74806949	74806949	C	T	CERT1	c.468G>A	NM_001130105.1	NP_001123577.1:p.(Gly156=)	NC_000005.9:g.74806949C>T	(Likely) benign	1 lab	1523f770f8
1:43913508 SZT2 C>T	1	43913508	43913508	C	T	SZT2	c.9270-12C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43913508C>T	(Likely) benign	1 lab	15833e39f2
1:235894238 LYST C>T	1	235894238	235894238	C	T	LYST	c.8953G>A	NM_000081.3	NP_000072.2:p.(Val2985Ile)	NC_000001.10:g.235894238C>T	(Likely) benign	1 lab	18a5c5bb18
10:21461410 NEBL GAA>G	10	21461410	21461424	GAA	G	NEBL	c.70-6_70-5del	NM_001173484.1	NP_001166955.1:p.?	NC_000010.10:g.21461423_21461424del	(Likely) benign	1 lab	194feed991
11:12316344 MICAL2 GCTCCTC>G	11	12316344	12316388	GCTCCTC	G	MICAL2	c.5191_5196del	NM_001393937.1	NP_001380866.1:p.(Pro1731_Pro1732del)	NC_000011.9:g.12316383_12316388del	(Likely) benign	1 lab	1b286f9918
2:152348634 NEB G>A	2	152348634	152348634	G	A	NEB	c.25140C>T	NM_001271208.1	NP_001258137.1:p.(Asp8380=)	NC_000002.11:g.152348634G>A	(Likely) benign	1 lab	2641a42fc6
9:71628898 PRKACG G>A	9	71628898	71628898	G	A	PRKACG	c.111C>T	NM_002732.3	NP_002723.2:p.(Asn37=)	NC_000009.11:g.71628898G>A	(Likely) benign	1 lab	2b7d9ddeeb
1:26131655 SELENON C>CGAG	1	26131655	26131667	C	CGAG	SELENON	c.436_438dup	NM_020451.3	NP_065184.2:p.(Glu146dup)	NC_000001.10:g.26131665_26131667dup	(Likely) benign	1 lab	2ed732303e
8:41547748 ANK1 G>A	8	41547748	41547748	G	A	ANK1	c.4224C>T	NM_001142446.2	NP_001135918.1:p.(Ala1408=)	NC_000008.10:g.41547748G>A	(Likely) benign	1 lab	333e6460aa
14:21161701 ANG C>T	14	21161701	21161701	C	T	ANG	c.-18-5C>T	NM_001145.4	NP_001136.1:p.?	NC_000014.8:g.21161701C>T	(Likely) benign	1 lab	370c018237
4:79430139 FRAS1 A>G	4	79430139	79430139	A	G	FRAS1	c.9759A>G	NM_025074.7	NP_079350.5:p.(Pro3253=)	NC_000004.11:g.79430139A>G	(Likely) benign	1 lab	3e2218843e
12:111749947 CUX2 C>T	12	111749947	111749947	C	T	CUX2	c.1944C>T	NM_015267.4	NP_056082.2:p.(Asp648=)	NC_000012.11:g.111749947C>T	(Likely) benign	1 lab	4095a094cb
10:21461410 NEBL GA>G	10	21461410	21461424	GA	G	NEBL	c.70-5del	NM_001173484.1	NP_001166955.1:p.?	NC_000010.10:g.21461424del	(Likely) benign	1 lab	45622286a6
2:73676959 ALMS1 A>C	2	73676959	73676959	A	C	ALMS1	c.3308A>C	NM_015120.4	NP_055935.4:p.(Lys1103Thr)	NC_000002.11:g.73676959A>C	(Likely) benign	1 lab	45f7dedaf0
1:12336823 VPS13D G>A	1	12336823	12336823	G	A	VPS13D	c.3178G>A	NM_015378.4	NP_056193.2:p.(Asp1060Asn)	NC_000001.10:g.12336823G>A	(Likely) benign	1 lab	49743297fc
6:32790099 TAP2 GA>G	6	32790099	32790109	GA	G	TAP2	c.1933-5del	NM_018833.2	NP_061313.2:p.?	NC_000006.11:g.32790109del	(Likely) benign	1 lab	54c6070242
17:44060857 MAPT C>A	17	44060857	44060857	C	A	MAPT	c.687C>A	NM_001123066.3	NP_001116538.2:p.(Pro229=)	NC_000017.10:g.44060857C>A	(Likely) benign	1 lab	572d601fe4
7:4822949 AP5Z1 T>C	7	4822949	4822949	T	C	AP5Z1	c.369T>C	NM_014855.3	NP_055670.1:p.(Gly123=)	NC_000007.13:g.4822949T>C	(Likely) benign	1 lab	5918d46c10
3:180379698 CCDC39 C>T	3	180379698	180379698	C	T	CCDC39	c.308G>A	NM_181426.2	NP_852091.1:p.(Arg103Gln)	NC_000003.11:g.180379698C>T	VUS	1 lab	dea4d22720
X:100653883 GLA C>T	X	100653883	100653883	C	T	GLA	c.691G>A	NM_000169.2	NP_000160.1:p.(Asp231Asn)	NC_000023.10:g.100653883C>T	VUS	1 lab	5dcd52999c
11:111739396 ALG9 G>A	11	111739396	111739396	G	A	ALG9	c.334C>T	NM_024740.2	NP_079016.2:p.(Arg112Cys)	NC_000011.9:g.111739396G>A	VUS	1 lab	5ef9c8fec6
14:69445680 ACTN1 G>T	14	69445680	69445680	G	T	ACTN1	c.94C>A	NM_001130004.1	NP_001123476.1:p.(Gln32Lys)	NC_000014.8:g.69445680G>T	(Likely) pathogenic	1 lab	663414cc68
18:53298806 TCF4 CT>C	18	53298806	53298807	CT	C	TCF4	c.196-188del	NM_001243226.1	NP_001230155.1:p.?	NC_000018.9:g.53298807del	(Likely) benign	1 lab	66a5fbb203
7:75933304 HSPB1 G>GC	7	75933304	75933310	G	GC	HSPB1	c.438dup	NM_001540.5	NP_001531.1:p.(Gly147ArgfsTer14)	NC_000007.13:g.75933310dup	VUS	1 lab	dea5069b46
X:100617573 BTK G>A	X	100617573	100617573	G	A	BTK	c.496C>T	NM_000061.2	NP_000052.1:p.(Gln166Ter)	NC_000023.10:g.100617573G>A	(Likely) pathogenic	1 lab	6c4249ca78
15:89398511 ACAN CT>C	15	89398511	89398512	CT	C	ACAN	c.2696del	NM_013227.4	NP_037359.3:p.(Leu899ArgfsTer46)	NC_000015.9:g.89398512del	(Likely) pathogenic	1 lab	dea987d72c
19:13368096 CACNA1A G>A	19	13368096	13368096	G	A	CACNA1A	c.4602+68C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13368096G>A	(Likely) benign	1 lab	8e467ba5f3
8:68419000 CPA6 T>C	8	68419000	68419000	T	C	CPA6	c.636+22A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68419000T>C	(Likely) benign	1 lab	91166f6644
16:75300664 BCAR1 CG>C	16	75300664	75300666	CG	C	BCAR1	c.66+1148del	NM_001170715.1	NP_001164186.1:p.?	NC_000016.9:g.75300666del	VUS	1 lab	a20615afc3
15:31221428 FAN1 CA>C	15	31221428	31221429	CA	C	FAN1	c.2616del	NM_014967.4	NP_055782.3:p.(Asp873ThrfsTer17)	NC_000015.9:g.31221429del	(Likely) pathogenic	1 lab	a464503617
8:145738406 RECQL4 G>A	8	145738406	145738406	G	A	RECQL4	c.2579C>T	NM_004260.3	NP_004251.3:p.(Pro860Leu)	NC_000008.10:g.145738406G>A	(Likely) benign	1 lab	ada1034e07
8:56981091 RPS20 TA>T	8	56981091	56981112	TA	T	RPS20	c.*36-3del	NM_001146227.1	NP_001139699.1:p.?	NC_000008.10:g.56981112del	(Likely) benign	1 lab	b1e0cb2c7a
7:92763376 SAMD9L C>T	7	92763376	92763376	C	T	SAMD9L	c.1909G>A	NM_152703.5	NP_689916.2:p.(Ala637Thr)	NC_000007.13:g.92763376C>T	(Likely) benign	1 lab	b84302704e
6:32826236 PSMB9 T>C	6	32826236	32826236	T	C	PSMB9	c.486T>C	NM_002800.5	NP_002791.1:p.(Tyr162=)	NC_000006.11:g.32826236T>C	(Likely) benign	1 lab	b8bb053551
2:189857650 COL3A1 G>A	2	189857650	189857650	G	A	COL3A1	c.1034G>A	NM_000090.3	NP_000081.1:p.(Gly345Glu)	NC_000002.11:g.189857650G>A	(Likely) pathogenic	1 lab	bc289a9883
2:227927189 COL4A4 GT>G	2	227927189	227927202	GT	G	COL4A4	c.2056+56del	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227927202del	(Likely) benign	1 lab	bf03a764ea
22:32302045 DEPDC5 C>T	22	32302045	32302045	C	T	DEPDC5	c.4512C>T	NM_001242896.3	NP_001229825.1:p.(His1504=)	NC_000022.10:g.32302045C>T	(Likely) benign	1 lab	c1441eca67
10:75399756 MYOZ1 G>A	10	75399756	75399756	G	A	MYOZ1	c.20C>T	NM_021245.4	NP_067068.1:p.(Pro7Leu)	NC_000010.10:g.75399756G>A	VUS	1 lab	c79bbb1ac5
8:22864488 RHOBTB2 G>A	8	22864488	22864488	G	A	RHOBTB2	c.796G>A	NM_001160036.2	NP_001153508.1:p.(Val266Met)	NC_000008.10:g.22864488G>A	(Likely) benign	1 lab	cd1b395579
22:17702673 ADA2 AG>A	22	17702673	17702674	AG	A	ADA2	c.-105del	NM_001282227.1	NP_001269156.1:p.?	NC_000022.10:g.17702674del	(Likely) benign	1 lab	e13634cfca
5:14498691 TRIO G>A	5	14498691	14498691	G	A	TRIO	c.8274G>A	NM_007118.4	NP_009049.2:p.(Thr2758=)	NC_000005.9:g.14498691G>A	(Likely) benign	1 lab	e217dea2d1
3:188327139 LPP C>T	3	188327139	188327139	C	T	LPP	c.620C>T	NM_005578.5	NP_005569.1:p.(Pro207Leu)	NC_000003.11:g.188327139C>T	(Likely) benign	1 lab	e4ba8dc2a0
12:49434726 KMT2D G>T	12	49434726	49434726	G	T	KMT2D	c.6827C>A	NM_003482.3	NP_003473.3:p.(Pro2276Gln)	NC_000012.11:g.49434726G>T	(Likely) benign	1 lab	e4e05dd0e9
1:11190698 MTOR G>A	1	11190698	11190698	G	A	MTOR	c.5501C>T	NM_004958.3	NP_004949.1:p.(Thr1834Met)	NC_000001.10:g.11190698G>A	(Likely) benign	1 lab	f3bf29a27c
14:38016179 MIPOL1 G>GA	14	38016179	38016187	G	GA	MIPOL1	c.*11dup	NM_001195296.2	NP_001182225.1:p.?	NC_000014.8:g.38016187dup	(Likely) benign	1 lab	deae7ae1e5
6:31692793 MPIG6B G>A	6	31692793	31692793	G	A	MPIG6B	c.687G>A	NM_025260.3	NP_079536.2:p.(Pro229=)	NC_000006.11:g.31692793G>A	(Likely) benign	1 lab	009def0025
6:30996889 MUC22 G>A	6	30996889	30996889	G	A	MUC22	c.3681G>A	NM_001198815.1	NP_001185744.1:p.(Thr1227=)	NC_000006.11:g.30996889G>A	(Likely) benign	1 lab	7ac884d976
6:33273061 TAPBP G>A	6	33273061	33273061	G	A	TAPBP	c.573C>T	NM_172208.2	NP_757345.2:p.(Ala191=)	NC_000006.11:g.33273061G>A	(Likely) benign	1 lab	909b523ae9
6:30996036 MUC22 G>A	6	30996036	30996036	G	A	MUC22	c.2828G>A	NM_001198815.1	NP_001185744.1:p.(Gly943Glu)	NC_000006.11:g.30996036G>A	(Likely) benign	1 lab	9b8e3e941b
9:108380227 FKTN ATCT>A	9	108380227	108380234	ATCT	A	FKTN	c.911-8_911-6del	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108380232_108380234del	(Likely) benign	1 lab	0001131e90
10:101567212 ABCC2 G>T	10	101567212	101567212	G	T	ABCC2	c.1602G>T	NM_000392.5	NP_000383.2:p.(Lys534Asn)	NC_000010.10:g.101567212G>T	VUS	1 lab	0002fca2c7
10:100177337 HPS1 C>T	10	100177337	100177337	C	T	HPS1	c.1115G>A	NM_001322487.1	NP_001309416.1:p.(Arg372His)	NC_000010.10:g.100177337C>T	VUS	1 lab	00047647c4
X:32509401 DMD A>G	X	32509401	32509401	A	G	DMD	c.2246T>C	NM_004010.3	NP_004001.1:p.(Ile749Thr)	NC_000023.10:g.32509401A>G	VUS	1 lab	00049ae4ec
X:77244763 ATP7A T>C	X	77244763	77244763	T	C	ATP7A	c.645T>C	NM_000052.6	NP_000043.4:p.(Tyr215=)	NC_000023.10:g.77244763T>C	(Likely) benign	1 lab	000569f7e0
4:88537144 DSPP C>T	4	88537144	88537144	C	T	DSPP	c.3330C>T	NM_014208.3	NP_055023.2:p.(Asp1110=)	NC_000004.11:g.88537144C>T	(Likely) benign	1 lab	0005dbb269
X:100547933 TAF7L A>G	X	100547933	100547933	A	G	TAF7L	c.101T>C	NM_024885.4	NP_079161.3:p.(Leu34Pro)	NC_000023.10:g.100547933A>G	(Likely) benign	1 lab	deb4db89df
20:62642676 PRPF6 T>C	20	62642676	62642676	T	C	PRPF6	c.1344T>C	NM_012469.3	NP_036601.2:p.(Asn448=)	NC_000020.10:g.62642676T>C	(Likely) benign	1 lab	00090337f5
X:106789025 FRMPD3 T>C	X	106789025	106789025	T	C	FRMPD3	c.455T>C	NM_032428.2	NP_115804.1:p.(Val152Ala)	NC_000023.10:g.106789025T>C	(Likely) benign	1 lab	000a47cc6a
17:36104644 HNF1B C>A	17	36104644	36104644	C	A	HNF1B	c.232G>T	NM_000458.3	NP_000449.1:p.(Glu78Ter)	NC_000017.10:g.36104644C>A	(Likely) pathogenic	1 lab	000ac6bb5f
14:52736189 PTGDR CG>C	14	52736189	52736190	CG	C	PTGDR	c.846+812del	NM_000953.3	NP_000944.1:p.?	NC_000014.8:g.52736190del	(Likely) pathogenic	1 lab	000c80bc9a
13:32906522 BRCA2 T>C	13	32906522	32906522	T	C	BRCA2	c.907T>C	NM_000059.3	NP_000050.2:p.(Ser303Pro)	NC_000013.10:g.32906522T>C	(Likely) benign	1 lab	000cdf2853
17:29663879 NF1 T>G	17	29663879	29663879	T	G	NF1	c.6311T>G	NM_000267.3	NP_000258.1:p.(Leu2104Arg)	NC_000017.10:g.29663879T>G	(Likely) pathogenic	1 lab	000d868667
8:145640738 SLC39A4 G>A	8	145640738	145640738	G	A	SLC39A4	c.465C>T	NM_017767.2	NP_060237.2:p.(Gly155=)	NC_000008.10:g.145640738G>A	(Likely) benign	1 lab	000dcf4741
16:88498830 ZNF469 A>G	16	88498830	88498830	A	G	ZNF469				NC_000016.9:g.88498830A>G	(Likely) benign	1 lab	000e2ea917
15:23891641 MAGEL2 G>A	15	23891641	23891641	G	A	MAGEL2	c.1249C>T	NM_019066.4	NP_061939.3:p.(Arg417Cys)	NC_000015.9:g.23891641G>A	(Likely) benign	1 lab	000e4b5575
20:62631097 PRPF6 G>A	20	62631097	62631097	G	A	PRPF6	c.1008G>A	NM_012469.3	NP_036601.2:p.(Thr336=)	NC_000020.10:g.62631097G>A	(Likely) benign	1 lab	000e59ef55
19:17451997 GTPBP3 GA>G	19	17451997	17451999	GA	G	GTPBP3	c.1121del	NM_032620.4	NP_116009.2:p.(Asn374ThrfsTer26)	NC_000019.9:g.17451999del	(Likely) pathogenic	1 lab	000efae999
15:65425663 PDCD7 TC>T	15	65425663	65425666	TC	T	PDCD7	c.456del	NM_005707.2	NP_005698.1:p.(Thr153ProfsTer39)	NC_000015.9:g.65425666del	VUS	1 lab	000fa671a2
17:78190917 SGSH G>A	17	78190917	78190917	G	A	SGSH	c.163C>T	NM_001352921.1	NP_001339850.1:p.(Arg55Cys)	NC_000017.10:g.78190917G>A	VUS	1 lab	00102ed3ca
11:121358818 SORL1 C>A	11	121358818	121358818	C	A	SORL1	c.606C>A	NM_003105.5	NP_003096.1:p.(Ile202=)	NC_000011.9:g.121358818C>A	(Likely) benign	1 lab	001091cba6
16:85696679 GSE1 A>T	16	85696679	85696679	A	T	GSE1	c.2353A>T	NM_014615.4	NP_055430.1:p.(Lys785Ter)	NC_000016.9:g.85696679A>T	VUS	1 lab	0010fc2732
4:126328095 FAT4 G>A	4	126328095	126328095	G	A	FAT4	c.5368G>A	NM_024582.4	NP_078858.4:p.(Asp1790Asn)	NC_000004.11:g.126328095G>A	VUS	1 lab	001218b61c
13:39343788 FREM2 C>G	13	39343788	39343788	C	G	FREM2	c.5484C>G	NM_207361.5	NP_997244.4:p.(Phe1828Leu)	NC_000013.10:g.39343788C>G	VUS	1 lab	001d21f39a
17:29556064 NF1 AC>A	17	29556064	29556066	AC	A	NF1	c.2433del	NM_001042492.3	NP_001035957.1:p.(Ile812LeufsTer9)	NC_000017.10:g.29556066del	(Likely) pathogenic	1 lab	0012d403ea
15:23891543 MAGEL2 GGGTGGGGCCTGGCGGATCACC>G	15	23891543	23891583	GGGTGGGGCCTGGCGGATCACC	G	MAGEL2	c.1326_1346del	NM_019066.5	NP_061939.3:p.(Pro456_Pro462del)	NC_000015.9:g.23891563_23891583del	(Likely) benign	1 lab	0012da19d4
16:89347448 ANKRD11 G>A	16	89347448	89347448	G	A	ANKRD11	c.5502C>T	NM_001256182.1	NP_001243111.1:p.(Pro1834=)	NC_000016.9:g.89347448G>A	(Likely) benign	1 lab	0013e65a52
8:61765143 CHD7 G>A	8	61765143	61765143	G	A	CHD7				NC_000008.10:g.61765143G>A	(Likely) pathogenic	1 lab	0013f679d2
X:100630173 BTK C>T	X	100630173	100630173	C	T	BTK	c.202G>A	NM_001287344.1	NP_001274273.1:p.(Val68Met)	NC_000023.10:g.100630173C>T	(Likely) benign	1 lab	001517e5e3
22:33673157 LARGE1 C>T	22	33673157	33673157	C	T	LARGE1	c.1962G>A	NM_004737.5	NP_004728.1:p.(Glu654=)	NC_000022.10:g.33673157C>T	(Likely) benign	1 lab	001582d250
6:72960052 RIMS1 A>G	6	72960052	72960052	A	G	RIMS1	c.2261A>G	NM_014989.5	NP_055804.2:p.(Lys754Arg)	NC_000006.11:g.72960052A>G	VUS	1 lab	00173cfdef
5:150901369 FAT2 AC>A	5	150901369	150901370	AC	A	FAT2	c.10784del	NM_001447.3	NP_001438.1:p.(Arg3595LeufsTer50)	NC_000005.9:g.150901370del	(Likely) pathogenic	1 lab	001747388e
2:25384493 POMC G>T	2	25384493	25384493	G	T	POMC	c.261C>A	NM_001035256.3	NP_001030333.1:p.(Phe87Leu)	NC_000002.11:g.25384493G>T	(Likely) benign	1 lab	deb957f1ef
11:562398 RASSF7 A>C	11	562398	562398	A	C	RASSF7	c.444A>C	NM_003475.4	NP_003466.1:p.(Thr148=)	NC_000011.9:g.562398A>C	(Likely) benign	1 lab	001998afad
X:77258641 ATP7A C>A	X	77258641	77258641	C	A	ATP7A	c.1615C>A	NM_000052.6	NP_000043.4:p.(Pro539Thr)	NC_000023.10:g.77258641C>A	(Likely) benign	1 lab	001a56b1ed
2:113816822 IL36RN T>C	2	113816822	113816822	T	C	IL36RN	c.-28+4T>C	NM_012275.2	NP_036407.1:p.?	NC_000002.11:g.113816822T>C	(Likely) benign	1 lab	001ad0feab
4:435996 ZNF721 TG>T	4	435996	435997	TG	T	ZNF721	c.2259del	NM_133474.4	NP_597731.2:p.(Tyr753Ter)	NC_000004.11:g.435997del	VUS	1 lab	001c06194c
7:42064957 GLI3 GACTC>G	7	42064957	42064965	GACTC	G	GLI3	c.1258_1261del	NM_000168.6	NP_000159.3:p.(Glu420LeufsTer3)	NC_000007.13:g.42064962_42064965del	(Likely) pathogenic	1 lab	001e35eb9a
16:2138312 TSC2 CGGCTCCGCCAGCGGGTAGGGAATATGG>C	16	2138312	2138345	CGGCTCCGCCAGCGGGTAGGGAATATGG	C	TSC2	c.5252_5259+19del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138319_2138345del	(Likely) pathogenic	1 lab	001f06e880
16:76495929 CNTNAP4 C>T	16	76495929	76495929	C	T	CNTNAP4	c.1191C>T	NM_138994.4	NP_620481.2:p.(Asp397=)	NC_000016.9:g.76495929C>T	(Likely) benign	1 lab	001fbdab41
10:18250706 SLC39A12 A>G	10	18250706	18250706	A	G	SLC39A12	c.458A>G	NM_001145195.2	NP_001138667.1:p.(Asp153Gly)	NC_000010.10:g.18250706A>G	VUS	1 lab	debb49849b
11:103044778 DYNC2H1 T>C	11	103044778	103044778	T	C	DYNC2H1	c.5559-6T>C	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103044778T>C	(Likely) benign	1 lab	0026e24c9d
7:42017311 GLI3 C>T	7	42017311	42017311	C	T	GLI3	c.1658G>A	NM_000168.5	NP_000159.3:p.(Cys553Tyr)	NC_000007.13:g.42017311C>T	(Likely) pathogenic	1 lab	002845fbee
5:150029639 SYNPO A>G	5	150029639	150029639	A	G	SYNPO	c.1802A>G	NM_007286.6	NP_009217.3:p.(Asn601Ser)	NC_000005.9:g.150029639A>G	(Likely) benign	1 lab	0028c86511
2:37247882 HEATR5B C>G	2	37247882	37247882	C	G	HEATR5B	c.3951G>C	NM_019024.3	NP_061897.1:p.(Ala1317=)	NC_000002.11:g.37247882C>G	(Likely) benign	1 lab	debe5dae3a
7:21677214 DNAH11 T>C	7	21677214	21677214	T	C	DNAH11				NC_000007.13:g.21677214T>C	(Likely) benign	1 lab	002af5b11b
14:76243188 TTLL5 A>G	14	76243188	76243188	A	G	TTLL5	c.2382A>G	NM_015072.4	NP_055887.3:p.(Gln794=)	NC_000014.8:g.76243188A>G	(Likely) benign	1 lab	002bf11ff7
17:5485172 NLRP1 G>A	17	5485172	5485172	G	A	NLRP1	c.652+7C>T	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5485172G>A	(Likely) benign	1 lab	002c0b653a
3:140397121 TRIM42 G>A	3	140397121	140397121	G	A	TRIM42	c.50G>A	NM_152616.5	NP_689829.3:p.(Cys17Tyr)	NC_000003.11:g.140397121G>A	VUS	1 lab	002c867aea
9:130941594 CIZ1 G>A	9	130941594	130941594	G	A	CIZ1	c.982C>T	NM_001257975.1	NP_001244904.1:p.(Leu328=)	NC_000009.11:g.130941594G>A	(Likely) benign	1 lab	0033ad7c63
2:44200814 LRPPRC C>T	2	44200814	44200814	C	T	LRPPRC	c.1301G>A	NM_133259.3	NP_573566.2:p.(Gly434Asp)	NC_000002.11:g.44200814C>T	VUS	1 lab	00358b1ec8
17:27068489 NEK8 G>C	17	27068489	27068489	G	C	NEK8	c.1950G>C	NM_178170.3	NP_835464.1:p.(Glu650Asp)	NC_000017.10:g.27068489G>C	VUS	1 lab	0036b0ef13
16:2100447 TSC2 G>A	16	2100447	2100447	G	A	TSC2	c.185G>A	NM_000548.3	NP_000539.2:p.(Gly62Glu)	NC_000016.9:g.2100447G>A	(Likely) benign	1 lab	003818904b
12:331781 SLC6A13 C>T	12	331781	331781	C	T	SLC6A13	c.1432G>A	NM_016615.5	NP_057699.2:p.(Asp478Asn)	NC_000012.11:g.331781C>T	(Likely) benign	1 lab	0038b8cca0
18:56002758 NEDD4L G>A	18	56002758	56002758	G	A	NEDD4L	c.1114G>A	NM_001144967.2	NP_001138439.1:p.(Glu372Lys)	NC_000018.9:g.56002758G>A	VUS	1 lab	0039d0a7ab
4:4861703 MSX1 G>C	4	4861703	4861703	G	C	MSX1	c.77G>C	NM_002448.3	NP_002439.2:p.(Gly26Ala)	NC_000004.11:g.4861703G>C	(Likely) benign	1 lab	003b41ee81
17:29497010 NF1 T>G	17	29497010	29497010	T	G	NF1	c.581T>G	NM_000267.3	NP_000258.1:p.(Leu194Arg)	NC_000017.10:g.29497010T>G	VUS	1 lab	003c7196a8
16:49671592 ZNF423 C>A	16	49671592	49671592	C	A	ZNF423	c.1291G>T	NM_001271620.2	NP_001258549.1:p.(Asp431Tyr)	NC_000016.9:g.49671592C>A	VUS	1 lab	003def4b37
19:13320180 CACNA1A G>T	19	13320180	13320180	G	T	CACNA1A	c.6490C>A	NM_023035.2	NP_075461.2:p.(Arg2164Ser)	NC_000019.9:g.13320180G>T	VUS	1 lab	003e69db29
12:102183804 GNPTAB AAAC>A	12	102183804	102183810	AAAC	A	GNPTAB	c.232_234del	NM_024312.5	NP_077288.2:p.(Val78del)	NC_000012.11:g.102183808_102183810del	(Likely) pathogenic	1 lab	0040cb05b7
12:1995445 CACNA2D4 T>C	12	1995445	1995445	T	C	CACNA2D4	c.937A>G	NM_172364.4	NP_758952.4:p.(Thr313Ala)	NC_000012.11:g.1995445T>C	VUS	1 lab	0041a5899d
2:96947614 SNRNP200 C>T	2	96947614	96947614	C	T	SNRNP200	c.4962G>A	NM_014014.4	NP_054733.2:p.(Met1654Ile)	NC_000002.11:g.96947614C>T	(Likely) benign	1 lab	0041a8d0a5
15:76998276 SCAPER T>C	15	76998276	76998276	T	C	SCAPER	c.2233A>G	NM_001353009.1	NP_001339938.1:p.(Met745Val)	NC_000015.9:g.76998276T>C	VUS	1 lab	0044bd5b0f
15:87531266 AGBL1 C>G	15	87531266	87531266	C	G	AGBL1	c.3270C>G	NM_152336.3	NP_689549.3:p.(His1090Gln)	NC_000015.9:g.87531266C>G	(Likely) benign	1 lab	0045544ac0
8:10467898 RP1L1 T>C	8	10467898	10467898	T	C	RP1L1	c.3710A>G	NM_178857.5	NP_849188.4:p.(Gln1237Arg)	NC_000008.10:g.10467898T>C	(Likely) benign	1 lab	004627b482
X:120009346 CT47B1 C>G	X	120009346	120009346	C	G	CT47B1	c.179G>C	NM_001145718.1	NP_001139190.1:p.(Gly60Ala)	NC_000023.10:g.120009346C>G	(Likely) benign	1 lab	00468a2f18
19:2109122 AP3D1 A>T	19	2109122	2109122	A	T	AP3D1	c.3435T>A	NM_001261826.3	NP_001248755.1:p.(Asn1145Lys)	NC_000019.9:g.2109122A>T	VUS	1 lab	004736a707
19:9087629 MUC16 A>C	19	9087629	9087629	A	C	MUC16	c.4186T>G	NM_024690.2	NP_078966.2:p.(Leu1396Val)	NC_000019.9:g.9087629A>C	VUS	1 lab	00475c0a52
15:62276202 VPS13C C>T	15	62276202	62276202	C	T	VPS13C	c.1731G>A	NM_001018088.2	NP_001018098.1:p.(Ala577=)	NC_000015.9:g.62276202C>T	(Likely) benign	1 lab	004767c52e
16:15788039 NDE1 G>A	16	15788039	15788039	G	A	NDE1	c.721G>A	NM_001143979.1	NP_001137451.1:p.(Gly241Arg)	NC_000016.9:g.15788039G>A	(Likely) benign	1 lab	0048998059
8:145154021 SHARPIN G>T	8	145154021	145154021	G	T	SHARPIN	c.1010C>A	NM_030974.4	NP_112236.3:p.(Pro337His)	NC_000008.10:g.145154021G>T	VUS	1 lab	004d51230b
1:880463 NOC2L C>T	1	880463	880463	C	T	NOC2L	c.2117G>A	NM_015658.4	NP_056473.3:p.(Gly706Asp)	NC_000001.10:g.880463C>T	(Likely) benign	1 lab	004e78db03
21:46888517 COL18A1 C>T	21	46888517	46888517	C	T	COL18A1	c.468C>T	NM_130445.2	NP_569712.2:p.(Pro156=)	NC_000021.8:g.46888517C>T	(Likely) benign	1 lab	004ea54b3d
2:163174382 IFIH1 T>C	2	163174382	163174382	T	C	IFIH1	c.436A>G	NM_022168.4	NP_071451.2:p.(Ile146Val)	NC_000002.11:g.163174382T>C	(Likely) benign	1 lab	004f4abd3e
16:3786704 CREBBP A>G	16	3786704	3786704	A	G	CREBBP	c.4507T>C	NM_004380.2	NP_004371.2:p.(Tyr1503His)	NC_000016.9:g.3786704A>G	(Likely) pathogenic	1 lab	00531fcfb5
20:10637087 JAG1 G>T	20	10637087	10637087	G	T	JAG1	c.714C>A	NM_000214.3	NP_000205.1:p.(Cys238Ter)	NC_000020.10:g.10637087G>T	(Likely) pathogenic	1 lab	0055c57cb5
12:7175762 C1S G>A	12	7175762	7175762	G	A	C1S	c.1198G>A	NM_201442.3	NP_958850.1:p.(Glu400Lys)	NC_000012.11:g.7175762G>A	(Likely) benign	1 lab	0055d539fe
16:71096167 HYDIN T>A	16	71096167	71096167	T	A	HYDIN	c.2281A>T	NM_001270974.2	NP_001257903.1:p.(Thr761Ser)	NC_000016.9:g.71096167T>A	(Likely) benign	1 lab	0056ebf03d
15:62214683 VPS13C T>C	15	62214683	62214683	T	C	VPS13C	c.6888A>G	NM_001018088.2	NP_001018098.1:p.(Val2296=)	NC_000015.9:g.62214683T>C	(Likely) benign	1 lab	0059408908
2:149857016 KIF5C G>A	2	149857016	149857016	G	A	KIF5C	c.2290G>A	NM_004522.3	NP_004513.1:p.(Glu764Lys)	NC_000002.11:g.149857016G>A	(Likely) benign	1 lab	005d47ee17
7:138554387 KIAA1549 T>A	7	138554387	138554387	T	A	KIAA1549	c.4672A>T	NM_001164665.1	NP_001158137.1:p.(Thr1558Ser)	NC_000007.13:g.138554387T>A	VUS	1 lab	005dac3645
11:1260766 MUC5B C>G	11	1260766	1260766	C	G	MUC5B	c.3553C>G	NM_002458.2	NP_002449.2:p.(His1185Asp)	NC_000011.9:g.1260766C>G	(Likely) benign	1 lab	005db5d9e0
1:236157033 NID1 G>A	1	236157033	236157033	G	A	NID1	c.2667C>T	NM_002508.2	NP_002499.2:p.(Cys889=)	NC_000001.10:g.236157033G>A	(Likely) benign	1 lab	005dea426d
2:108487335 RGPD4 C>T	2	108487335	108487335	C	T	RGPD4	c.2875C>T	NM_182588.2	NP_872394.2:p.(Arg959Cys)	NC_000002.11:g.108487335C>T	(Likely) benign	1 lab	0060afbf15
2:48845018 GTF2A1L C>T	2	48845018	48845018	C	T	GTF2A1L	c.5C>T	NM_006872.5	NP_006863.2:p.(Ala2Val)	NC_000002.11:g.48845018C>T	VUS	1 lab	0060d38425
16:88504985 ZNF469 G>A	16	88504985	88504985	G	A	ZNF469				NC_000016.9:g.88504985G>A	VUS	1 lab	00f7f18510
X:63412428 AMER1 G>A	X	63412428	63412428	G	A	AMER1	c.739C>T	NM_152424.4	NP_689637.3:p.(Pro247Ser)	NC_000023.10:g.63412428G>A	(Likely) benign	1 lab	0062a12134
17:29657355 NF1 T>G	17	29657355	29657355	T	G	NF1	c.5588T>G	NM_000267.3	NP_000258.1:p.(Phe1863Cys)	NC_000017.10:g.29657355T>G	(Likely) pathogenic	1 lab	0063806e14
X:75648817 MAGEE1 C>T	X	75648817	75648817	C	T	MAGEE1	c.494C>T	NM_020932.2	NP_065983.1:p.(Pro165Leu)	NC_000023.10:g.75648817C>T	(Likely) benign	1 lab	00651eade3
17:29585509 NF1 TTAA>T	17	29585509	29585513	TTAA	T	NF1	c.4323_4325del	NM_001042492.3	NP_001035957.1:p.(Met1442del)	NC_000017.10:g.29585511_29585513del	(Likely) pathogenic	1 lab	0065423ac1
17:29554310 NF1 G>A	17	29554310	29554310	G	A	NF1	c.2325+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554310G>A	(Likely) pathogenic	1 lab	00657376eb
3:121712412 ILDR1 A>G	3	121712412	121712412	A	G	ILDR1	c.1184T>C	NM_001199799.1	NP_001186728.1:p.(Leu395Ser)	NC_000003.11:g.121712412A>G	VUS	1 lab	006638818e
12:67072672 GRIP1 A>C	12	67072672	67072672	A	C	GRIP1	c.13T>G	NM_021150.3	NP_066973.2:p.(Ser5Ala)	NC_000012.11:g.67072672A>C	(Likely) benign	1 lab	0066922770
14:51214794 NIN C>T	14	51214794	51214794	C	T	NIN	c.4980G>A	NM_020921.3	NP_065972.3:p.(Ala1660=)	NC_000014.8:g.51214794C>T	(Likely) benign	1 lab	006698e37e
18:2923763 LPIN2 G>A	18	2923763	2923763	G	A	LPIN2	c.2174+10C>T	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2923763G>A	VUS	1 lab	006831acda
16:2121556 TSC2 C>T	16	2121556	2121556	C	T	TSC2	c.1885C>T	NM_000548.3	NP_000539.2:p.(Leu629=)	NC_000016.9:g.2121556C>T	(Likely) benign	1 lab	006ae98014
22:50900890 SBF1 C>A	22	50900890	50900890	C	A	SBF1	c.2140G>T	NM_002972.3	NP_002963.2:p.(Ala714Ser)	NC_000022.10:g.50900890C>A	VUS	1 lab	006c9d082c
7:2558214 LFNG G>T	7	2558214	2558214	G	T	LFNG	c.27G>T	NM_002304.2	NP_002295.1:p.(Ala9=)	NC_000007.13:g.2558214G>T	(Likely) benign	1 lab	006d28c533
1:237880544 RYR2 A>C	1	237880544	237880544	A	C	RYR2	c.10370A>C	NM_001035.2	NP_001026.2:p.(Asp3457Ala)	NC_000001.10:g.237880544A>C	(Likely) benign	1 lab	0072a66a9e
1:207512758 CD55 A>G	1	207512758	207512758	A	G	CD55	c.1077A>G	NM_001114752.2	NP_001108224.1:p.(Leu359=)	NC_000001.10:g.207512758A>G	(Likely) benign	1 lab	00758df89c
17:7125567 ACADVL T>C	17	7125567	7125567	T	C	ACADVL	c.596T>C	NM_001270448.1	NP_001257377.1:p.(Val199Ala)	NC_000017.10:g.7125567T>C	(Likely) benign	1 lab	007642caeb
16:2136195 TSC2 G>GC	16	2136195	2136196	G	GC	TSC2	c.4665dup	NM_000548.3	NP_000539.2:p.(Asn1556GlnfsTer10)	NC_000016.9:g.2136196dup	(Likely) pathogenic	1 lab	007834d5d9
17:40485728 STAT3 C>T	17	40485728	40485728	C	T	STAT3	c.1012G>A	NM_139276.3	NP_644805.1:p.(Val338Ile)	NC_000017.10:g.40485728C>T	VUS	1 lab	dec33ffc32
16:88891220 GALNS CT>C	16	88891220	88891222	CT	C	GALNS	c.1196del	NM_000512.5	NP_000503.1:p.(Lys399ArgfsTer42)	NC_000016.9:g.88891222del	(Likely) pathogenic	1 lab	007a27e3d9
12:124409650 DNAH10 C>A	12	124409650	124409650	C	A	DNAH10	c.11466C>A	NM_207437.3	NP_997320.2:p.(Asn3822Lys)	NC_000012.11:g.124409650C>A	(Likely) benign	1 lab	007a821bdb
11:3687564 CHRNA10 C>A	11	3687564	3687564	C	A	CHRNA10	c.508G>T	NM_001303034.1	NP_001289963.1:p.(Ala170Ser)	NC_000011.9:g.3687564C>A	(Likely) benign	1 lab	007ae2186b
10:97447373 TCTN3 A>T	10	97447373	97447373	A	T	TCTN3	c.603T>A	NM_015631.5	NP_056446.4:p.(Thr201=)	NC_000010.10:g.97447373A>T	(Likely) benign	1 lab	007e4ac4b6
5:92923760 NR2F1 TCGCG>T	5	92923760	92923765	TCGCG	T	NR2F1	c.603_606del	NM_005654.6	NP_005645.1:p.(Arg202ThrfsTer154)	NC_000005.9:g.92923762_92923765del	(Likely) pathogenic	1 lab	007f0eed3e
2:31598340 XDH C>A	2	31598340	31598340	C	A	XDH	c.1508G>T	NM_000379.3	NP_000370.2:p.(Gly503Val)	NC_000002.11:g.31598340C>A	VUS	1 lab	007f48b401
7:117254703 CFTR TAGCCATGAATATCATG>T	7	117254703	117254721	TAGCCATGAATATCATG	T	CFTR	c.3407_3422del	NM_000492.4	NP_000483.3:p.(Ala1136ValfsTer7)	NC_000007.13:g.117254706_117254721del	(Likely) pathogenic	1 lab	007fff0c1d
18:77474975 CTDP1 G>A	18	77474975	77474975	G	A	CTDP1	c.1515G>A	NM_004715.4	NP_004706.3:p.(Pro505=)	NC_000018.9:g.77474975G>A	(Likely) benign	1 lab	00800ffc3e
13:113741770 MISSING C>T	13	113741770	113741770	C	T	MISSING				NC_000013.10:g.113741770C>T	(Likely) benign	1 lab	00804a083b
22:50659993 TUBGCP6 G>A	22	50659993	50659993	G	A	TUBGCP6	c.2795C>T	NM_020461.3	NP_065194.2:p.(Ser932Leu)	NC_000022.10:g.50659993G>A	(Likely) benign	1 lab	00816e0d1e
5:115329469 LVRN G>A	5	115329469	115329469	G	A	LVRN	c.1292G>A	NM_173800.5	NP_776161.3:p.(Trp431Ter)	NC_000005.9:g.115329469G>A	VUS	1 lab	0082365289
5:37125476 CPLANE1 G>A	5	37125476	37125476	G	A	CPLANE1	c.8666C>T	NM_023073.3	NP_075561.3:p.(Thr2889Ile)	NC_000005.9:g.37125476G>A	VUS	1 lab	008378dde9
19:45860652 ERCC2 A>G	19	45860652	45860652	A	G	ERCC2	c.1378-23T>C	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45860652A>G	(Likely) benign	1 lab	00842ab090
1:219383883 LYPLAL1 C>T	1	219383883	219383883	C	T	LYPLAL1	c.371C>T	NM_138794.5	NP_620149.2:p.(Ser124Phe)	NC_000001.10:g.219383883C>T	VUS	1 lab	00845269ac
X:53563158 HUWE1 G>A	X	53563158	53563158	G	A	HUWE1	c.12481C>T	NM_031407.6	NP_113584.3:p.(Leu4161=)	NC_000023.10:g.53563158G>A	(Likely) benign	1 lab	0084e53a0a
19:17886851 FCHO1 C>T	19	17886851	17886851	C	T	FCHO1	c.1063C>T	NM_001161357.1	NP_001154829.1:p.(Arg355Cys)	NC_000019.9:g.17886851C>T	VUS	1 lab	0087e1e3cd
X:69749731 TEX11 C>T	X	69749731	69749731	C	T	TEX11	c.2684G>A	NM_001003811.1	NP_001003811.1:p.(Arg895His)	NC_000023.10:g.69749731C>T	(Likely) benign	1 lab	00886a5734
5:90281227 ADGRV1 T>C	5	90281227	90281227	T	C	ADGRV1	c.18040T>C	NM_032119.4	NP_115495.3:p.(Phe6014Leu)	NC_000005.9:g.90281227T>C	VUS	1 lab	008986b800
2:179597628 TTN C>T	2	179597628	179597628	C	T	TTN	c.16275G>A	NM_001267550.1	NP_001254479.1:p.(Gly5425=)	NC_000002.11:g.179597628C>T	(Likely) benign	1 lab	008a5f5024
8:140630561 KCNK9 A>C	8	140630561	140630561	A	C	KCNK9	c.1065T>G	NM_001282534.1	NP_001269463.1:p.(Ser355=)	NC_000008.10:g.140630561A>C	(Likely) benign	1 lab	008b0a0341
12:40707850 LRRK2 G>T	12	40707850	40707850	G	T	LRRK2	c.4613G>T	NM_198578.3	NP_940980.3:p.(Arg1538Leu)	NC_000012.11:g.40707850G>T	VUS	1 lab	008b56e984
7:91842532 KRIT1 G>A	7	91842532	91842532	G	A	KRIT1	c.2002C>T	NM_004912.4	NP_004903.2:p.(His668Tyr)	NC_000007.13:g.91842532G>A	VUS	1 lab	008c3035f8
7:45039935 CCM2 G>A	7	45039935	45039935	G	A	CCM2	c.3G>A	NM_031443.3	NP_113631.1:p.(Met1?)	NC_000007.13:g.45039935G>A	VUS	1 lab	008ceb0869
7:142460388 PRSS1 C>T	7	142460388	142460388	C	T	PRSS1	c.561C>T	NM_002769.4	NP_002760.1:p.(Gly187=)	NC_000007.13:g.142460388C>T	(Likely) benign	1 lab	008dc1234d
X:45017006 DIPK2B C>T	X	45017006	45017006	C	T	DIPK2B	c.626G>A	NM_176819.4	NP_789789.2:p.(Arg209His)	NC_000023.10:g.45017006C>T	VUS	1 lab	008e9cfefa
2:29519631 ALK C>T	2	29519631	29519631	C	T	ALK				NC_000002.11:g.29519631C>T	(Likely) benign	1 lab	0092c3a229
7:2418351 EIF3B T>C	7	2418351	2418351	T	C	EIF3B	c.2182T>C	NM_001037283.2	NP_001032360.1:p.(Ser728Pro)	NC_000007.13:g.2418351T>C	VUS	1 lab	009490b67b
5:149410364 HMGXB3 A>G	5	149410364	149410364	A	G	HMGXB3	c.1795A>G	NM_014983.2	NP_055798.2:p.(Met599Val)	NC_000005.9:g.149410364A>G	(Likely) benign	1 lab	00949b03e6
6:56484158 DST G>A	6	56484158	56484158	G	A	DST	c.4674C>T	NM_001723.5	NP_001714.1:p.(Leu1558=)	NC_000006.11:g.56484158G>A	(Likely) benign	1 lab	0096961fa2
19:12958426 MAST1 C>A	19	12958426	12958426	C	A	MAST1	c.489C>A	NM_014975.2	NP_055790.1:p.(Ser163Arg)	NC_000019.9:g.12958426C>A	VUS	1 lab	0098deeda3
15:68510969 CLN6 C>T	15	68510969	68510969	C	T	CLN6	c.103G>A	NM_017882.2	NP_060352.1:p.(Asp35Asn)	NC_000015.9:g.68510969C>T	(Likely) benign	1 lab	0098df0fca
7:4826008 AP5Z1 G>A	7	4826008	4826008	G	A	AP5Z1	c.1260G>A	NM_014855.3	NP_055670.1:p.(Leu420=)	NC_000007.13:g.4826008G>A	(Likely) benign	1 lab	009bbca015
6:33143450 COL11A2 A>C	6	33143450	33143450	A	C	COL11A2	c.2277T>G	NM_080680.2	NP_542411.2:p.(Val759=)	NC_000006.11:g.33143450A>C	(Likely) benign	1 lab	009d003701
1:27101374 ARID1A G>A	1	27101374	27101374	G	A	ARID1A	c.4656G>A	NM_006015.4	NP_006006.3:p.(Gln1552=)	NC_000001.10:g.27101374G>A	(Likely) benign	1 lab	009fbd32ce
19:49362849 PLEKHA4 C>T	19	49362849	49362849	C	T	PLEKHA4	c.569G>A	NM_020904.2	NP_065955.2:p.(Arg190His)	NC_000019.9:g.49362849C>T	(Likely) benign	1 lab	00a44a6f3f
22:38120154 TRIOBP G>C	22	38120154	38120154	G	C	TRIOBP	c.1591G>C	NM_001039141.2	NP_001034230.1:p.(Ala531Pro)	NC_000022.10:g.38120154G>C	(Likely) benign	1 lab	00a48a7aff
21:46929334 COL18A1 G>A	21	46929334	46929334	G	A	COL18A1	c.4550G>A	NM_130444.3	NP_569711.2:p.(Arg1517Gln)	NC_000021.8:g.46929334G>A	VUS	1 lab	00a4cbe035
15:45658660 GATM T>C	15	45658660	45658660	T	C	GATM	c.335A>G	NM_001321015.1	NP_001307944.1:p.(Gln112Arg)	NC_000015.9:g.45658660T>C	VUS	1 lab	00a4f52109
19:51410197 KLK4 G>GC	19	51410197	51410199	G	GC	KLK4	c.757dup	NM_004917.4	NP_004908.4:p.(Ala253GlyfsTer11)	NC_000019.9:g.51410199dup	VUS	1 lab	00a4ff81cc
11:68552333 CPT1A CGAGG>C	11	68552333	68552337	CGAGG	C	CPT1A	c.1109_1112del	NM_001876.4	NP_001867.2:p.(Thr370ArgfsTer48)	NC_000011.9:g.68552334_68552337del	(Likely) pathogenic	1 lab	00a56e16da
19:9046305 MUC16 T>G	19	9046305	9046305	T	G	MUC16	c.35326A>C	NM_024690.2	NP_078966.2:p.(Thr11776Pro)	NC_000019.9:g.9046305T>G	(Likely) benign	1 lab	00a76de823
1:120458471 NOTCH2 T>TC	1	120458471	120458474	T	TC	NOTCH2	c.6873dup	NM_024408.3	NP_077719.2:p.(Lys2292GlufsTer21)	NC_000001.10:g.120458474dup	(Likely) pathogenic	1 lab	00a851d8a1
20:62292721 RTEL1 C>G	20	62292721	62292721	C	G	RTEL1	c.173C>G	NM_001283009.1	NP_001269938.1:p.(Ala58Gly)	NC_000020.10:g.62292721C>G	VUS	1 lab	00a87f3361
18:9593878 PPP4R1 C>CA	18	9593878	9593886	C	CA	PPP4R1	c.189-7dup	NM_001042388.2	NP_001035847.1:p.?	NC_000018.9:g.9593886dup	(Likely) benign	1 lab	00a8c08e42
6:43333084 ZNF318 C>T	6	43333084	43333084	C	T	ZNF318	c.494G>A	NM_014345.3	NP_055160.2:p.(Arg165Gln)	NC_000006.11:g.43333084C>T	(Likely) benign	1 lab	00a9a03332
3:47719794 SMARCC1 C>A	3	47719794	47719794	C	A	SMARCC1	c.1465G>T	NM_003074.4	NP_003065.3:p.(Ala489Ser)	NC_000003.11:g.47719794C>A	VUS	1 lab	00ac2d6f63
3:58097936 FLNB C>T	3	58097936	58097936	C	T	FLNB	c.2636C>T	NM_001457.4	NP_001448.2:p.(Pro879Leu)	NC_000003.11:g.58097936C>T	VUS	1 lab	deca5ce4a0
12:52200776 SCN8A A>G	12	52200776	52200776	A	G	SCN8A	c.5506A>G	NM_014191.3	NP_055006.1:p.(Met1836Val)	NC_000012.11:g.52200776A>G	(Likely) benign	1 lab	00af4b7b01
11:2939262 SLC67A1 C>G	11	2939262	2939262	C	G	SLC67A1	c.955C>G	NM_001315501.1	NP_001302430.1:p.(Leu319Val)	NC_000011.9:g.2939262C>G	(Likely) benign	1 lab	00afb67d22
3:97595078 CRYBG3 C>A	3	97595078	97595078	C	A	CRYBG3	c.5040C>A	NM_153605.4	NP_705833.3:p.(Gly1680=)	NC_000003.11:g.97595078C>A	(Likely) benign	1 lab	00b04606e2
20:23028686 THBD C>A	20	23028686	23028686	C	A	THBD	c.1456G>T	NM_000361.2	NP_000352.1:p.(Asp486Tyr)	NC_000020.10:g.23028686C>A	(Likely) benign	1 lab	00b0f4de61
4:113540024 ZGRF1 C>T	4	113540024	113540024	C	T	ZGRF1	c.1174G>A	NM_018392.4	NP_060862.3:p.(Gly392Ser)	NC_000004.11:g.113540024C>T	(Likely) benign	1 lab	00b124b1f8
2:152422052 NEB A>G	2	152422052	152422052	A	G	NEB	c.18329T>C	NM_001271208.1	NP_001258137.1:p.(Ile6110Thr)	NC_000002.11:g.152422052A>G	VUS	1 lab	00b28e1070
12:113388516 OAS3 G>A	12	113388516	113388516	G	A	OAS3	c.1393G>A	NM_006187.4	NP_006178.2:p.(Gly465Ser)	NC_000012.11:g.113388516G>A	VUS	1 lab	00b36719a1
10:104678788 CNNM2 A>G	10	104678788	104678788	A	G	CNNM2	c.551A>G	NM_017649.4	NP_060119.3:p.(Glu184Gly)	NC_000010.10:g.104678788A>G	VUS	1 lab	00b73a4865
2:48032086 MSH6 AC>A	2	48032086	48032087	AC	A	MSH6	c.3477del	NM_000179.3	NP_000170.1:p.(Tyr1159Ter)	NC_000002.11:g.48032087del	(Likely) pathogenic	1 lab	00b9af92f9
12:62959810 MON2 C>T	12	62959810	62959810	C	T	MON2	c.4193C>T	NM_015026.3	NP_055841.2:p.(Pro1398Leu)	NC_000012.11:g.62959810C>T	VUS	1 lab	00bb618a7d
17:29664504 NF1 C>T	17	29664504	29664504	C	T	NF1	c.6483C>T	NM_000267.3	NP_000258.1:p.(Tyr2161=)	NC_000017.10:g.29664504C>T	(Likely) benign	1 lab	00bb86e28d
8:102661719 GRHL2 A>T	8	102661719	102661719	A	T	GRHL2	c.1642A>T	NM_001330593.1	NP_001317522.1:p.(Met548Leu)	NC_000008.10:g.102661719A>T	(Likely) benign	1 lab	00bd0ed6b1
10:70968361 SUPV3L1 G>A	10	70968361	70968361	G	A	SUPV3L1	c.1568G>A	NM_001323585.1	NP_001310514.1:p.(Arg523Gln)	NC_000010.10:g.70968361G>A	VUS	1 lab	00be79a0ea
2:165987770 SCN3A A>G	2	165987770	165987770	A	G	SCN3A	c.2549T>C	NM_006922.3	NP_008853.3:p.(Leu850Pro)	NC_000002.11:g.165987770A>G	VUS	1 lab	00bf07b11b
14:102471435 DYNC1H1 A>G	14	102471435	102471435	A	G	DYNC1H1	c.5295A>G	NM_001376.4	NP_001367.2:p.(Ala1765=)	NC_000014.8:g.102471435A>G	(Likely) benign	1 lab	00c08cdd87
11:118963677 HMBS C>T	11	118963677	118963677	C	T	HMBS	c.858C>T	NM_000190.4	NP_000181.2:p.(Asp286=)	NC_000011.9:g.118963677C>T	(Likely) benign	1 lab	00c230a282
17:29556113 NF1 AT>A	17	29556113	29556116	AT	A	NF1	c.2483del	NM_001042492.3	NP_001035957.1:p.(Leu828CysfsTer13)	NC_000017.10:g.29556116del	(Likely) pathogenic	1 lab	00c26b7509
1:1447735 ATAD3A C>A	1	1447735	1447735	C	A	ATAD3A	c.87C>A	NM_018188.4	NP_060658.3:p.(Ala29=)	NC_000001.10:g.1447735C>A	(Likely) benign	1 lab	00c3546b0c
X:152687075 ZFP92 A>T	X	152687075	152687075	A	T	ZFP92	c.1240A>T	NM_001136273.1	NP_001129745.1:p.(Ser414Cys)	NC_000023.10:g.152687075A>T	VUS	1 lab	00c41bb969
2:182409477 CERKL G>A	2	182409477	182409477	G	A	CERKL	c.1393C>T	NM_001030311.2	NP_001025482.1:p.(Arg465Trp)	NC_000002.11:g.182409477G>A	VUS	1 lab	00c41bd2b7
2:74759061 HTRA2 T>C	2	74759061	74759061	T	C	HTRA2	c.1115+9T>C	NM_013247.4	NP_037379.1:p.?	NC_000002.11:g.74759061T>C	(Likely) benign	1 lab	00c441c36e
17:79943415 ASPSCR1 G>A	17	79943415	79943415	G	A	ASPSCR1	c.306G>A	NM_001251888.1	NP_001238817.1:p.(Ser102=)	NC_000017.10:g.79943415G>A	(Likely) benign	1 lab	00c4af90e7
X:13734657 TRAPPC2 C>T	X	13734657	13734657	C	T	TRAPPC2	c.234G>A	NM_001011658.3	NP_001011658.1:p.(Ala78=)	NC_000023.10:g.13734657C>T	(Likely) benign	1 lab	00c76957e3
12:7045822 ATN1 C>T	12	7045822	7045822	C	T	ATN1	c.1392C>T	NM_001940.4	NP_001931.2:p.(Pro464=)	NC_000012.11:g.7045822C>T	(Likely) benign	1 lab	00c7ba96ee
1:237982477 RYR2 T>C	1	237982477	237982477	T	C	RYR2	c.14575T>C	NM_001035.2	NP_001026.2:p.(Leu4859=)	NC_000001.10:g.237982477T>C	(Likely) benign	1 lab	00c83bdb34
14:45650641 FANCM T>A	14	45650641	45650641	T	A	FANCM	c.4231T>A	NM_020937.2	NP_065988.1:p.(Leu1411Ile)	NC_000014.8:g.45650641T>A	(Likely) benign	1 lab	00c85742af
18:6974905 LAMA1 G>A	18	6974905	6974905	G	A	LAMA1	c.6620C>T	NM_005559.3	NP_005550.2:p.(Ala2207Val)	NC_000018.9:g.6974905G>A	(Likely) benign	1 lab	00c86715ad
4:13371589 RAB28 G>A	4	13371589	13371589	G	A	RAB28	c.574C>T	NM_004249.3	NP_004240.2:p.(Arg192Cys)	NC_000004.11:g.13371589G>A	VUS	1 lab	00c87f6f6a
17:15930796 TTC19 CAAAGA>C	17	15930796	15930805	CAAAGA	C	TTC19	c.1108_1112del	NM_017775.4	NP_060245.3:p.(Lys370Ter)	NC_000017.10:g.15930801_15930805del	(Likely) pathogenic	1 lab	00c907dfae
22:45937194 FBLN1 G>A	22	45937194	45937194	G	A	FBLN1	c.1008G>A	NM_006486.2	NP_006477.2:p.(Lys336=)	NC_000022.10:g.45937194G>A	(Likely) benign	1 lab	00ca9122de
11:68213980 LRP5 C>T	11	68213980	68213980	C	T	LRP5	c.2822C>T	NM_001291902.1	NP_001278831.1:p.(Pro941Leu)	NC_000011.9:g.68213980C>T	VUS	1 lab	00cbd6fcc6
17:19559858 ALDH3A2 T>G	17	19559858	19559858	T	G	ALDH3A2	c.651T>G	NM_001031806.1	NP_001026976.1:p.(Asp217Glu)	NC_000017.10:g.19559858T>G	VUS	1 lab	00d19e529c
11:71152283 DHCR7 C>T	11	71152283	71152283	C	T	DHCR7	c.616G>A	NM_001360.2	NP_001351.2:p.(Ala206Thr)	NC_000011.9:g.71152283C>T	VUS	1 lab	00d25e38ac
12:49444887 KMT2D A>G	12	49444887	49444887	A	G	KMT2D	c.2579T>C	NM_003482.3	NP_003473.3:p.(Leu860Pro)	NC_000012.11:g.49444887A>G	VUS	1 lab	00d302b4fb
16:76523769 CNTNAP4 T>A	16	76523769	76523769	T	A	CNTNAP4	c.1850T>A	NM_138994.4	NP_620481.2:p.(Val617Asp)	NC_000016.9:g.76523769T>A	VUS	1 lab	00d48e8789
11:78412937 TENM4 T>G	11	78412937	78412937	T	G	TENM4	c.4721A>C	NM_001098816.2	NP_001092286.2:p.(Asn1574Thr)	NC_000011.9:g.78412937T>G	(Likely) benign	1 lab	00d4ff60b6
8:61734614 CHD7 C>T	8	61734614	61734614	C	T	CHD7				NC_000008.10:g.61734614C>T	(Likely) benign	1 lab	00d52825c7
11:6560038 DNHD1 G>A	11	6560038	6560038	G	A	DNHD1	c.3323G>A	NM_144666.2	NP_653267.2:p.(Arg1108His)	NC_000011.9:g.6560038G>A	VUS	1 lab	00d5d68137
2:86400800 IMMT T>C	2	86400800	86400800	T	C	IMMT	c.394A>G	NM_006839.2	NP_006830.2:p.(Lys132Glu)	NC_000002.11:g.86400800T>C	(Likely) benign	1 lab	00d6821e0f
3:38645381 SCN5A C>A	3	38645381	38645381	C	A	SCN5A	c.1712G>T	NM_001099404.2	NP_001092874.1:p.(Ser571Ile)	NC_000003.11:g.38645381C>A	VUS	1 lab	dedac46bdc
X:48858631 GRIPAP1 C>A	X	48858631	48858631	C	A	GRIPAP1	c.10G>T	NM_020137.4	NP_064522.3:p.(Ala4Ser)	NC_000023.10:g.48858631C>A	VUS	1 lab	00d70905cb
12:111749951 CUX2 G>A	12	111749951	111749951	G	A	CUX2	c.1948G>A	NM_015267.4	NP_056082.2:p.(Ala650Thr)	NC_000012.11:g.111749951G>A	VUS	1 lab	dedc4889c1
8:145640439 SLC39A4 G>A	8	145640439	145640439	G	A	SLC39A4	c.648C>T	NM_017767.2	NP_060237.2:p.(His216=)	NC_000008.10:g.145640439G>A	(Likely) benign	1 lab	00d98fd706
8:43024359 HGSNAT C>T	8	43024359	43024359	C	T	HGSNAT	c.607C>T	NM_001363227.1	NP_001350156.1:p.(Arg203Ter)	NC_000008.10:g.43024359C>T	(Likely) pathogenic	1 lab	00da9952fd
17:29553529 NF1 TGTTT>AA	17	29553529	29553533	TGTTT	AA	NF1	c.2078_2082delinsAA	NM_000267.3	NP_000258.1:p.(Met693_Phe694delinsLys)	NC_000017.10:g.29553529_29553533delinsAA	VUS	1 lab	00ddc4bf6a
16:81241185 MISSING G>C	16	81241185	81241185	G	C	MISSING				NC_000016.9:g.81241185G>C	(Likely) benign	1 lab	00dfa6d188
1:240371405 FMN2 C>T	1	240371405	240371405	C	T	FMN2	c.3293C>T	NM_020066.5	NP_064450.3:p.(Pro1098Leu)	NC_000001.10:g.240371405C>T	(Likely) benign	1 lab	00e0cd4c3d
1:247588318 NLRP3 T>C	1	247588318	247588318	T	C	NLRP3	c.1567T>C	NM_001243133.1	NP_001230062.1:p.(Phe523Leu)	NC_000001.10:g.247588318T>C	VUS	1 lab	00e1eb39d3
15:54590060 UNC13C A>G	15	54590060	54590060	A	G	UNC13C	c.4040A>G	NM_001080534.2	NP_001074003.1:p.(Asn1347Ser)	NC_000015.9:g.54590060A>G	(Likely) benign	1 lab	00e67d60f2
9:133901656 LAMC3 G>A	9	133901656	133901656	G	A	LAMC3	c.374-16G>A	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133901656G>A	(Likely) benign	1 lab	00e68aff84
3:4494705 SUMF1 G>C	3	4494705	4494705	G	C	SUMF1	c.299C>G	NM_182760.3	NP_877437.2:p.(Thr100Arg)	NC_000003.11:g.4494705G>C	(Likely) benign	1 lab	00e6b960c3
1:158627260 SPTA1 A>C	1	158627260	158627260	A	C	SPTA1	c.2805+7T>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158627260A>C	(Likely) benign	1 lab	00e718cd92
12:33031151 PKP2 G>T	12	33031151	33031151	G	T	PKP2	c.663C>A	NM_004572.3	NP_004563.2:p.(Tyr221Ter)	NC_000012.11:g.33031151G>T	(Likely) pathogenic	1 lab	00e755f728
2:220099798 ANKZF1 G>A	2	220099798	220099798	G	A	ANKZF1	c.1455G>A	NM_018089.2	NP_060559.2:p.(Glu485=)	NC_000002.11:g.220099798G>A	(Likely) benign	1 lab	00e762b2b4
8:94935196 PDP1 C>T	8	94935196	94935196	C	T	PDP1	c.984C>T	NM_001161779.1	NP_001155251.1:p.(Gly328=)	NC_000008.10:g.94935196C>T	(Likely) benign	1 lab	00e8f5871c
10:73269936 CDH23 G>A	10	73269936	73269936	G	A	CDH23	c.243G>A	NM_022124.5	NP_071407.4:p.(Glu81=)	NC_000010.10:g.73269936G>A	(Likely) benign	1 lab	00ea8ea8e9
16:2168762 PKD1 C>T	16	2168762	2168762	C	T	PKD1	c.444G>A	NM_001009944.2	NP_001009944.2:p.(Val148=)	NC_000016.9:g.2168762C>T	(Likely) benign	1 lab	00ec232c68
1:12056345 MFN2 C>T	1	12056345	12056345	C	T	MFN2	c.444C>T	NM_014874.3	NP_055689.1:p.(Thr148=)	NC_000001.10:g.12056345C>T	(Likely) benign	1 lab	00edb94be2
19:45911858 POLR1G G>A	19	45911858	45911858	G	A	POLR1G	c.638G>A	NM_001297590.1	NP_001284519.1:p.(Arg213Gln)	NC_000019.9:g.45911858G>A	(Likely) benign	1 lab	00ef8db1b2
1:155932495 ARHGEF2 A>G	1	155932495	155932495	A	G	ARHGEF2	c.909T>C	NM_001350110.1	NP_001337039.1:p.(Ser303=)	NC_000001.10:g.155932495A>G	(Likely) benign	1 lab	00efb325b1
12:112460034 ERP29 C>G	12	112460034	112460034	C	G	ERP29	c.364C>G	NM_006817.4	NP_006808.1:p.(Arg122Gly)	NC_000012.11:g.112460034C>G	VUS	1 lab	00f035f532
X:120006597 CT47B1 G>GA	X	120006597	120006606	G	GA	CT47B1	c.*32-4dup	NM_001145718.1	NP_001139190.1:p.?	NC_000023.10:g.120006606dup	(Likely) benign	1 lab	00f12e5aac
Y:23545656 PRORY T>C	Y	23545656	23545656	T	C	PRORY	c.116A>G	NM_001282471.1	NP_001269400.1:p.(Asn39Ser)	NC_000024.9:g.23545656T>C	(Likely) benign	1 lab	00f59e9f1e
22:50639945 SELENOO G>A	22	50639945	50639945	G	A	SELENOO	c.480G>A	NM_031454.2	NP_113642.1:p.(Leu160=)	NC_000022.10:g.50639945G>A	(Likely) benign	1 lab	00f71267a7
12:114836480 TBX5 G>C	12	114836480	114836480	G	C	TBX5	c.408C>G	NM_000192.3	NP_000183.2:p.(Tyr136Ter)	NC_000012.11:g.114836480G>C	(Likely) pathogenic	1 lab	00f7907487
19:18377103 IQCN C>T	19	18377103	18377103	C	T	IQCN	c.1247G>A	NM_001145304.2	NP_001138776.1:p.(Arg416Gln)	NC_000019.9:g.18377103C>T	(Likely) benign	1 lab	00f879cac0
12:124115020 EIF2B1 A>G	12	124115020	124115020	A	G	EIF2B1	c.176T>C	NM_001414.3	NP_001405.1:p.(Val59Ala)	NC_000012.11:g.124115020A>G	(Likely) benign	1 lab	00f89aa565
X:38186612 RPGR C>T	X	38186612	38186612	C	T	RPGR	c.9G>A	NM_001034853.1	NP_001030025.1:p.(Glu3=)	NC_000023.10:g.38186612C>T	(Likely) benign	1 lab	00f8b59c69
19:15273349 NOTCH3 G>A	19	15273349	15273349	G	A	NOTCH3	c.5840C>T	NM_000435.2	NP_000426.2:p.(Ala1947Val)	NC_000019.9:g.15273349G>A	VUS	1 lab	00faca4b94
16:2122366 TSC2 T>G	16	2122366	2122366	T	G	TSC2	c.2220+2T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122366T>G	(Likely) pathogenic	1 lab	00fb48332b
7:21789439 DNAH11 T>G	7	21789439	21789439	T	G	DNAH11				NC_000007.13:g.21789439T>G	(Likely) benign	1 lab	00fd5a02c1
16:84209609 DNAAF1 C>T	16	84209609	84209609	C	T	DNAAF1	c.1769C>T	NM_178452.5	NP_848547.4:p.(Thr590Met)	NC_000016.9:g.84209609C>T	(Likely) benign	1 lab	00fe687bbd
X:135104777 SLC9A6 T>C	X	135104777	135104777	T	C	SLC9A6	c.1383T>C	NM_001042537.1	NP_001036002.1:p.(Ile461=)	NC_000023.10:g.135104777T>C	(Likely) benign	1 lab	00ff0eb82a
17:78023712 CCDC40 T>A	17	78023712	78023712	T	A	CCDC40	c.863T>A	NM_017950.3	NP_060420.2:p.(Met288Lys)	NC_000017.10:g.78023712T>A	VUS	1 lab	01001a7537
1:150049299 VPS45 A>G	1	150049299	150049299	A	G	VPS45	c.566A>G	NM_007259.5	NP_009190.2:p.(Glu189Gly)	NC_000001.10:g.150049299A>G	VUS	1 lab	01002a05ea
17:80042019 FASN C>T	17	80042019	80042019	C	T	FASN	c.4930G>A	NM_004104.5	NP_004095.4:p.(Glu1644Lys)	NC_000017.10:g.80042019C>T	VUS	1 lab	0101804ae0
1:210267753 SYT14 C>T	1	210267753	210267753	C	T	SYT14	c.529C>T	NM_001146262.2	NP_001139734.1:p.(Leu177=)	NC_000001.10:g.210267753C>T	(Likely) benign	1 lab	0103341cfc
1:110919728 SLC16A4 C>T	1	110919728	110919728	C	T	SLC16A4	c.1086G>A	NM_004696.3	NP_004687.1:p.(Trp362Ter)	NC_000001.10:g.110919728C>T	VUS	1 lab	0103899a7f
17:27187533 ERAL1 G>A	17	27187533	27187533	G	A	ERAL1	c.1273G>A	NM_001317985.1	NP_001304914.1:p.(Asp425Asn)	NC_000017.10:g.27187533G>A	VUS	1 lab	0105f68bc8
19:30021158 VSTM2B T>C	19	30021158	30021158	T	C	VSTM2B	c.730T>C	NM_001146339.1	NP_001139811.1:p.(Ser244Pro)	NC_000019.9:g.30021158T>C	VUS	1 lab	0106a94583
14:68934972 RAD51B G>A	14	68934972	68934972	G	A	RAD51B	c.1036+5G>A	NM_001321814.1	NP_001308743.1:p.?	NC_000014.8:g.68934972G>A	VUS	1 lab	0106a9e5df
17:29576084 NF1 T>A	17	29576084	29576084	T	A	NF1	c.4057T>A	NM_000267.3	NP_000258.1:p.(Ser1353Thr)	NC_000017.10:g.29576084T>A	(Likely) benign	1 lab	010927bd0c
17:39919263 JUP T>C	17	39919263	39919263	T	C	JUP	c.1469A>G	NM_002230.2	NP_002221.1:p.(Asn490Ser)	NC_000017.10:g.39919263T>C	VUS	1 lab	010af00233
18:44140215 LOXHD1 C>CGAGGACTCCTCTGATGAG	18	44140215	44140235	C	CGAGGACTCCTCTGATGAG	LOXHD1	c.2874_2891dup	NM_144612.6	NP_653213.6:p.(Ser960_Ser965dup)	NC_000018.9:g.44140218_44140235dup	VUS	1 lab	010e51f3d5
4:515734 PIGG C>T	4	515734	515734	C	T	PIGG	c.1351C>T	NM_001289053.1	NP_001275982.1:p.(Arg451Cys)	NC_000004.11:g.515734C>T	VUS	1 lab	010e55510c
6:39314286 KIF6 C>T	6	39314286	39314286	C	T	KIF6	c.2197G>A	NM_145027.5	NP_659464.3:p.(Val733Ile)	NC_000006.11:g.39314286C>T	(Likely) benign	1 lab	010e6f1c5f
3:123452832 MYLK G>C	3	123452832	123452832	G	C	MYLK	c.1011C>G	NM_053025.3	NP_444253.3:p.(Val337=)	NC_000003.11:g.123452832G>C	(Likely) benign	1 lab	0110319703
22:41574351 EP300 G>A	22	41574351	41574351	G	A	EP300	c.6636G>A	NM_001429.3	NP_001420.2:p.(Gln2212=)	NC_000022.10:g.41574351G>A	(Likely) benign	1 lab	0110c16cb6
7:19156553 TWIST1 A>T	7	19156553	19156553	A	T	TWIST1	c.392T>A	NM_000474.3	NP_000465.1:p.(Leu131Gln)	NC_000007.13:g.19156553A>T	(Likely) pathogenic	1 lab	0111b82d8e
X:39911572 BCOR G>A	X	39911572	39911572	G	A	BCOR	c.5058C>T	NM_001123385.1	NP_001116857.1:p.(Asn1686=)	NC_000023.10:g.39911572G>A	(Likely) benign	1 lab	011208e08d
17:13972966 COX10 G>GT	17	13972966	13972967	G	GT	COX10	c.43+2dup	NM_001303.3	NP_001294.2:p.?	NC_000017.10:g.13972967dup	VUS	1 lab	0112dcd00a
21:42540264 BACE2 C>T	21	42540264	42540264	C	T	BACE2	c.74C>T	NM_138991.2	NP_620476.1:p.(Ala25Val)	NC_000021.8:g.42540264C>T	(Likely) benign	1 lab	0113804c84
12:133438109 CHFR G>A	12	133438109	133438109	G	A	CHFR	c.731C>T	NM_001161344.1	NP_001154816.1:p.(Ser244Leu)	NC_000012.11:g.133438109G>A	(Likely) benign	1 lab	0116091fcd
3:33557544 CLASP2 A>G	3	33557544	33557544	A	G	CLASP2	c.4108T>C	NM_015097.3	NP_055912.2:p.(Leu1370=)	NC_000003.11:g.33557544A>G	(Likely) benign	1 lab	0116377c88
12:86374022 MGAT4C G>A	12	86374022	86374022	G	A	MGAT4C	c.482C>T	NM_013244.4	NP_037376.2:p.(Ala161Val)	NC_000012.11:g.86374022G>A	VUS	1 lab	0118135f40
21:36164869 RUNX1 A>T	21	36164869	36164869	A	T	RUNX1	c.925T>A	NM_001001890.2	NP_001001890.1:p.(Phe309Ile)	NC_000021.8:g.36164869A>T	VUS	1 lab	011a500b25
1:12423276 VPS13D A>T	1	12423276	12423276	A	T	VPS13D	c.10421A>T	NM_015378.4	NP_056193.2:p.(Lys3474Met)	NC_000001.10:g.12423276A>T	(Likely) benign	1 lab	011b359c7b
2:196738365 DNAH7 T>C	2	196738365	196738365	T	C	DNAH7	c.6340A>G	NM_018897.3	NP_061720.2:p.(Thr2114Ala)	NC_000002.11:g.196738365T>C	(Likely) benign	1 lab	011c68192b
X:147733651 AFF2 A>G	X	147733651	147733651	A	G	AFF2	c.179A>G	NM_002025.3	NP_002016.2:p.(Tyr60Cys)	NC_000023.10:g.147733651A>G	VUS	1 lab	011efb46d7
19:7600693 PNPLA6 G>A	19	7600693	7600693	G	A	PNPLA6	c.46G>A	NM_001166111.1	NP_001159583.1:p.(Gly16Arg)	NC_000019.9:g.7600693G>A	(Likely) benign	1 lab	011f25c084
12:14775086 GUCY2C T>C	12	14775086	14775086	T	C	GUCY2C	c.2454A>G	NM_004963.3	NP_004954.2:p.(Glu818=)	NC_000012.11:g.14775086T>C	(Likely) benign	1 lab	011f768f67
X:73811807 RLIM C>T	X	73811807	73811807	C	T	RLIM	c.1343G>A	NM_183353.2	NP_899196.1:p.(Gly448Asp)	NC_000023.10:g.73811807C>T	(Likely) benign	1 lab	011ffdf78e
17:37872145 ERBB2 C>T	17	37872145	37872145	C	T	ERBB2	c.1421C>T	NM_001289936.1	NP_001276865.1:p.(Pro474Leu)	NC_000017.10:g.37872145C>T	VUS	1 lab	01206441d5
9:137721851 COL5A1 C>G	9	137721851	137721851	C	G	COL5A1	c.5097C>G	NM_000093.4	NP_000084.3:p.(Asn1699Lys)	NC_000009.11:g.137721851C>G	VUS	1 lab	0120d3064e
20:62129078 EEF1A2 G>A	20	62129078	62129078	G	A	EEF1A2	c.39C>T	NM_001958.3	NP_001949.1:p.(Ile13=)	NC_000020.10:g.62129078G>A	(Likely) benign	1 lab	0121ee9e56
6:24178676 DCDC2 C>T	6	24178676	24178676	C	T	DCDC2	c.1208G>A	NM_016356.4	NP_057440.2:p.(Arg403His)	NC_000006.11:g.24178676C>T	VUS	1 lab	012379dbfd
3:38962578 SCN11A G>A	3	38962578	38962578	G	A	SCN11A	c.881C>T	NM_001349253.1	NP_001336182.1:p.(Pro294Leu)	NC_000003.11:g.38962578G>A	(Likely) benign	1 lab	0123e438ff
6:76633383 IMPG1 C>G	6	76633383	76633383	C	G	IMPG1	c.2284G>C	NM_001563.3	NP_001554.2:p.(Val762Leu)	NC_000006.11:g.76633383C>G	VUS	1 lab	01243513b1
5:147474003 SPINK5 C>T	5	147474003	147474003	C	T	SPINK5	c.753C>T	NM_001127698.1	NP_001121170.1:p.(Gly251=)	NC_000005.9:g.147474003C>T	VUS	1 lab	0125d4c99a
9:123169289 CDK5RAP2 C>T	9	123169289	123169289	C	T	CDK5RAP2	c.4963+1G>A	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123169289C>T	(Likely) pathogenic	1 lab	0126969693
11:134014164 JAM3 G>A	11	134014164	134014164	G	A	JAM3	c.285G>A	NM_032801.4	NP_116190.3:p.(Leu95=)	NC_000011.9:g.134014164G>A	(Likely) benign	1 lab	0127caa76f
14:68250174 ZFYVE26 C>G	14	68250174	68250174	C	G	ZFYVE26	c.3695G>C	NM_015346.3	NP_056161.2:p.(Cys1232Ser)	NC_000014.8:g.68250174C>G	VUS	1 lab	012885f288
12:65122774 GNS T>A	12	65122774	65122774	T	A	GNS	c.1162A>T	NM_002076.3	NP_002067.1:p.(Lys388Ter)	NC_000012.11:g.65122774T>A	(Likely) pathogenic	1 lab	0128eba182
16:67682639 CARMIL2 G>C	16	67682639	67682639	G	C	CARMIL2	c.1491G>C	NM_001013838.2	NP_001013860.1:p.(Leu497=)	NC_000016.9:g.67682639G>C	(Likely) benign	1 lab	0129952ef4
7:45077984 CCM2 CCAGA>C	7	45077984	45077993	CCAGA	C	CCM2	c.169_172del	NM_031443.4	NP_113631.1:p.(Arg57CysfsTer2)	NC_000007.13:g.45077990_45077993del	(Likely) pathogenic	1 lab	0129f5f98e
11:6655213 DCHS1 C>G	11	6655213	6655213	C	G	DCHS1				NC_000011.9:g.6655213C>G	(Likely) benign	1 lab	012a546d73
16:21847735 NPIPB4 A>G	16	21847735	21847735	A	G	NPIPB4	c.1973T>C	NM_001310148.1	NP_001297077.1:p.(Leu658Pro)	NC_000016.9:g.21847735A>G	VUS	1 lab	012ad8a6e0
1:27106283 ARID1A C>T	1	27106283	27106283	C	T	ARID1A	c.5894C>T	NM_006015.4	NP_006006.3:p.(Thr1965Ile)	NC_000001.10:g.27106283C>T	VUS	1 lab	012ce572fb
3:46940224 PTH1R C>A	3	46940224	46940224	C	A	PTH1R	c.711C>A	NM_000316.2	NP_000307.1:p.(Ile237=)	NC_000003.11:g.46940224C>A	(Likely) benign	1 lab	012d2f4f62
17:6353730 PIMREG T>C	17	6353730	6353730	T	C	PIMREG	c.735T>C	NM_001195228.1	NP_001182157.1:p.(Tyr245=)	NC_000017.10:g.6353730T>C	(Likely) benign	1 lab	012d49fd8f
11:17793553 KCNC1 G>A	11	17793553	17793553	G	A	KCNC1	c.912G>A	NM_004976.4	NP_004967.1:p.(Lys304=)	NC_000011.9:g.17793553G>A	(Likely) benign	1 lab	012f353107
16:90001216 TUBB3 G>A	16	90001216	90001216	G	A	TUBB3	c.357G>A	NM_006086.4	NP_006077.2:p.(Val119=)	NC_000016.9:g.90001216G>A	(Likely) benign	1 lab	013051212d
21:47615619 LSS G>A	21	47615619	47615619	G	A	LSS	c.1788C>T	NM_002340.6	NP_002331.3:p.(Phe596=)	NC_000021.8:g.47615619G>A	(Likely) benign	1 lab	01306deff3
22:30070867 NF2 AC>A	22	30070867	30070868	AC	A	NF2	c.1384del	NM_000268.4	NP_000259.1:p.(Arg462AlafsTer23)	NC_000022.10:g.30070868del	(Likely) pathogenic	1 lab	0131e4513e
17:17698569 RAI1 G>A	17	17698569	17698569	G	A	RAI1	c.2307G>A	NM_030665.3	NP_109590.3:p.(Leu769=)	NC_000017.10:g.17698569G>A	(Likely) benign	1 lab	0132075465
16:21726414 OTOA G>C	16	21726414	21726414	G	C	OTOA	c.1429G>C	NM_144672.4	NP_653273.3:p.(Ala477Pro)	NC_000016.9:g.21726414G>C	VUS	1 lab	013304837f
5:131728234 SLC22A5 A>G	5	131728234	131728234	A	G	SLC22A5	c.1449A>G	NM_001308122.1	NP_001295051.1:p.(Arg483=)	NC_000005.9:g.131728234A>G	(Likely) benign	1 lab	01335b4d47
4:9217197 USP17L11 T>C	4	9217197	9217197	T	C	USP17L11	c.67T>C	NM_001256854.1	NP_001243783.1:p.(Ser23Pro)	NC_000004.11:g.9217197T>C	(Likely) benign	1 lab	0133c52883
X:65253416 VSIG4 C>A	X	65253416	65253416	C	A	VSIG4	c.312G>T	NM_001184830.1	NP_001171759.1:p.(Glu104Asp)	NC_000023.10:g.65253416C>A	(Likely) benign	1 lab	01354f824c
X:73751217 SLC16A2 C>T	X	73751217	73751217	C	T	SLC16A2	c.1449C>T	NM_006517.4	NP_006508.2:p.(Ala483=)	NC_000023.10:g.73751217C>T	(Likely) benign	1 lab	0135e38aae
13:79190352 OBI1 C>T	13	79190352	79190352	C	T	OBI1	c.1544G>A	NM_024546.4	NP_078822.3:p.(Arg515His)	NC_000013.10:g.79190352C>T	VUS	1 lab	01363ef204
11:118352596 KMT2A C>T	11	118352596	118352596	C	T	KMT2A	c.3801C>T	NM_001197104.1	NP_001184033.1:p.(Val1267=)	NC_000011.9:g.118352596C>T	(Likely) benign	1 lab	0136a5fc72
9:114332369 PTGR1 A>G	9	114332369	114332369	A	G	PTGR1	c.879+2T>C	NM_001146108.2	NP_001139580.1:p.?	NC_000009.11:g.114332369A>G	VUS	1 lab	0136f4167c
14:65260245 SPTB C>T	14	65260245	65260245	C	T	SPTB	c.2136G>A	NM_001024858.3	NP_001020029.1:p.(Pro712=)	NC_000014.8:g.65260245C>T	(Likely) benign	1 lab	0137389313
X:48768814 SLC35A2 CTG>C	X	48768814	48768817	CTG	C	SLC35A2	c.91+7_91+8del	NM_005660.3	NP_005651.1:p.?	NC_000023.10:g.48768816_48768817del	VUS	1 lab	013769942b
15:99482402 IGF1R CAT>C	15	99482402	99482404	CAT	C	IGF1R	c.3298-27_3298-26del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99482403_99482404del	VUS	1 lab	01386e2cfc
12:94772672 CEP83 C>T	12	94772672	94772672	C	T	CEP83	c.696G>A	NM_016122.2	NP_057206.2:p.(Ala232=)	NC_000012.11:g.94772672C>T	(Likely) benign	1 lab	0138c3503e
5:112136954 APC G>C	5	112136954	112136954	G	C	APC				NC_000005.9:g.112136954G>C	(Likely) benign	1 lab	013a2dc333
11:64497588 RASGRP2 GA>G	11	64497588	64497590	GA	G	RASGRP2	c.1490del	NM_001098671.2	NP_001092141.1:p.(Phe497SerfsTer22)	NC_000011.9:g.64497590del	(Likely) pathogenic	1 lab	013a7a6eed
2:74596507 DCTN1 G>A	2	74596507	74596507	G	A	DCTN1	c.1504C>T	NM_004082.4	NP_004073.2:p.(Arg502Cys)	NC_000002.11:g.74596507G>A	VUS	1 lab	013a9beb9a
17:39020022 KRT12 A>G	17	39020022	39020022	A	G	KRT12	c.902T>C	NM_000223.4	NP_000214.1:p.(Met301Thr)	NC_000017.10:g.39020022A>G	(Likely) benign	1 lab	013a9dd112
15:45657068 GATM C>CA	15	45657068	45657076	C	CA	GATM	c.592-11dup	NM_001321015.1	NP_001307944.1:p.?	NC_000015.9:g.45657076dup	(Likely) benign	1 lab	013d5a8eb3
14:21993363 SALL2 G>T	14	21993363	21993363	G	T	SALL2	c.499C>A	NM_005407.2	NP_005398.2:p.(Pro167Thr)	NC_000014.8:g.21993363G>T	VUS	1 lab	013d74b6c2
11:9861210 SBF2 G>T	11	9861210	9861210	G	T	SBF2	c.3290C>A	NM_030962.3	NP_112224.1:p.(Thr1097Asn)	NC_000011.9:g.9861210G>T	VUS	1 lab	013e809cc1
9:116053252 PRPF4 C>T	9	116053252	116053252	C	T	PRPF4	c.602C>T	NM_001322267.1	NP_001309196.1:p.(Thr201Ile)	NC_000009.11:g.116053252C>T	VUS	1 lab	013f28c63a
17:80897299 TBCD C>T	17	80897299	80897299	C	T	TBCD	c.3426C>T	NM_005993.4	NP_005984.3:p.(Val1142=)	NC_000017.10:g.80897299C>T	(Likely) benign	1 lab	013f8062c8
7:50436048 MISSING G>A	7	50436048	50436048	G	A	MISSING				NC_000007.13:g.50436048G>A	(Likely) benign	1 lab	01404602b0
11:118343878 KMT2A T>G	11	118343878	118343878	T	G	KMT2A	c.2004T>G	NM_001197104.1	NP_001184033.1:p.(Ser668=)	NC_000011.9:g.118343878T>G	(Likely) benign	1 lab	0140a0eb82
17:80195742 SLC16A3 G>A	17	80195742	80195742	G	A	SLC16A3	c.1096G>A	NM_001206950.1	NP_001193879.1:p.(Ala366Thr)	NC_000017.10:g.80195742G>A	VUS	1 lab	014962ecef
1:117150687 IGSF3 G>A	1	117150687	117150687	G	A	IGSF3	c.1099C>T	NM_001542.4	NP_001533.2:p.(Arg367Cys)	NC_000001.10:g.117150687G>A	VUS	1 lab	def29f83d6
X:74636982 ZDHHC15 A>T	X	74636982	74636982	A	T	ZDHHC15	c.907T>A	NM_144969.2	NP_659406.1:p.(Ser303Thr)	NC_000023.10:g.74636982A>T	(Likely) benign	1 lab	0141e21a62
3:33114135 GLB1 C>T	3	33114135	33114135	C	T	GLB1	c.290G>A	NM_001317040.1	NP_001303969.1:p.(Arg97His)	NC_000003.11:g.33114135C>T	VUS	1 lab	0142491ad4
17:27065238 NEK8 G>A	17	27065238	27065238	G	A	NEK8	c.1197G>A	NM_178170.3	NP_835464.1:p.(Gly399=)	NC_000017.10:g.27065238G>A	(Likely) benign	1 lab	01424f089d
X:37026594 FAM47C C>G	X	37026594	37026594	C	G	FAM47C	c.111C>G	NM_001013736.2	NP_001013758.1:p.(Arg37=)	NC_000023.10:g.37026594C>G	(Likely) benign	1 lab	01428be411
7:91713016 AKAP9 TA>T	7	91713016	91713028	TA	T	AKAP9	c.8646+59del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91713028del	(Likely) benign	1 lab	def4aa25e9
14:35483957 SRP54 C>T	14	35483957	35483957	C	T	SRP54	c.747C>T	NM_001146282.1	NP_001139754.1:p.(Gly249=)	NC_000014.8:g.35483957C>T	(Likely) benign	1 lab	0143ee0e2d
2:189856433 COL3A1 A>G	2	189856433	189856433	A	G	COL3A1	c.936A>G	NM_000090.3	NP_000081.1:p.(Gly312=)	NC_000002.11:g.189856433A>G	(Likely) benign	1 lab	01457a6756
17:3839668 ATP2A3 G>A	17	3839668	3839668	G	A	ATP2A3	c.2417C>T	NM_174953.2	NP_777613.1:p.(Ala806Val)	NC_000017.10:g.3839668G>A	VUS	1 lab	0145fe4bd1
11:3022456 CARS1 T>A	11	3022456	3022456	T	A	CARS1	c.2384A>T	NM_001014437.2	NP_001014437.1:p.(Glu795Val)	NC_000011.9:g.3022456T>A	VUS	1 lab	014645948d
8:42995712 HGSNAT C>G	8	42995712	42995712	C	G	HGSNAT	c.73C>G	NM_152419.2	NP_689632.2:p.(Pro25Ala)	NC_000008.10:g.42995712C>G	(Likely) benign	1 lab	0147a61311
17:6945835 MISSING G>A	17	6945835	6945835	G	A	MISSING				NC_000017.10:g.6945835G>A	(Likely) benign	1 lab	0147f05b0c
19:9046012 MUC16 C>T	19	9046012	9046012	C	T	MUC16	c.35619G>A	NM_024690.2	NP_078966.2:p.(Glu11873=)	NC_000019.9:g.9046012C>T	(Likely) benign	1 lab	014829262c
2:179465694 TTN A>G	2	179465694	179465694	A	G	TTN	c.55937T>C	NM_001267550.1	NP_001254479.1:p.(Val18646Ala)	NC_000002.11:g.179465694A>G	VUS	1 lab	014a5adb76
X:110459662 PAK3 T>C	X	110459662	110459662	T	C	PAK3	c.1529T>C	NM_001128168.2	NP_001121640.1:p.(Ile510Thr)	NC_000023.10:g.110459662T>C	VUS	1 lab	014b21d76c
9:73151733 TRPM3 G>A	9	73151733	73151733	G	A	TRPM3				NC_000009.11:g.73151733G>A	(Likely) benign	1 lab	014bf271ea
2:179421958 TTN C>A	2	179421958	179421958	C	A	TTN	c.88009+22G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179421958C>A	(Likely) benign	1 lab	014ca7a74a
12:23999104 SOX5 CAT>C	12	23999104	23999107	CAT	C	SOX5	c.292_293del	NM_006940.6	NP_008871.3:p.(Met98ValfsTer28)	NC_000012.11:g.23999106_23999107del	(Likely) pathogenic	1 lab	014d47232b
1:173800720 DARS2 T>G	1	173800720	173800720	T	G	DARS2	c.444T>G	NM_018122.5	NP_060592.2:p.(Leu148=)	NC_000001.10:g.173800720T>G	(Likely) benign	1 lab	014e660ef4
20:23361865 NAPB G>A	20	23361865	23361865	G	A	NAPB	c.663C>T	NM_001283018.1	NP_001269947.1:p.(Asp221=)	NC_000020.10:g.23361865G>A	(Likely) benign	1 lab	015077d7fc
5:126113479 LMNB1 C>T	5	126113479	126113479	C	T	LMNB1	c.279C>T	NM_005573.3	NP_005564.1:p.(Leu93=)	NC_000005.9:g.126113479C>T	(Likely) benign	1 lab	015100a3de
X:150828291 PASD1 C>G	X	150828291	150828291	C	G	PASD1	c.824C>G	NM_173493.2	NP_775764.2:p.(Thr275Ser)	NC_000023.10:g.150828291C>G	(Likely) benign	1 lab	0151c94de2
X:40506327 CXorf38 T>C	X	40506327	40506327	T	C	CXorf38	c.283A>G	NM_144970.2	NP_659407.1:p.(Asn95Asp)	NC_000023.10:g.40506327T>C	VUS	1 lab	0154b05c38
11:46419355 AMBRA1 T>A	11	46419355	46419355	T	A	AMBRA1	c.3551A>T	NM_001267782.1	NP_001254711.1:p.(Asn1184Ile)	NC_000011.9:g.46419355T>A	VUS	1 lab	0155a01417
13:35733541 NBEA C>T	13	35733541	35733541	C	T	NBEA	c.3233C>T	NM_015678.4	NP_056493.3:p.(Pro1078Leu)	NC_000013.10:g.35733541C>T	(Likely) benign	1 lab	01569fa095
16:89350587 ANKRD11 G>T	16	89350587	89350587	G	T	ANKRD11	c.2363C>A	NM_001256182.1	NP_001243111.1:p.(Ser788Ter)	NC_000016.9:g.89350587G>T	(Likely) pathogenic	1 lab	0159e82853
16:53708990 RPGRIP1L T>A	16	53708990	53708990	T	A	RPGRIP1L	c.821A>T	NM_015272.4	NP_056087.2:p.(Gln274Leu)	NC_000016.9:g.53708990T>A	VUS	1 lab	015a091939
16:15844177 MYH11 C>T	16	15844177	15844177	C	T	MYH11	c.1897G>A	NM_001040113.1	NP_001035202.1:p.(Val633Met)	NC_000016.9:g.15844177C>T	VUS	1 lab	015a4bd91c
X:131212540 FRMD7 G>A	X	131212540	131212540	G	A	FRMD7	c.1505C>T	NM_194277.2	NP_919253.1:p.(Pro502Leu)	NC_000023.10:g.131212540G>A	VUS	1 lab	015ad5ad0a
7:23016389 HYCC1 T>A	7	23016389	23016389	T	A	HYCC1	c.453A>T	NM_001363466.1	NP_001350395.1:p.(Ala151=)	NC_000007.13:g.23016389T>A	(Likely) benign	1 lab	015b0c2649
4:122725850 EXOSC9 C>G	4	122725850	122725850	C	G	EXOSC9	c.458C>G	NM_001034194.1	NP_001029366.1:p.(Ala153Gly)	NC_000004.11:g.122725850C>G	(Likely) benign	1 lab	015f18c227
22:21351013 LZTR1 G>T	22	21351013	21351013	G	T	LZTR1	c.2248G>T	NM_006767.3	NP_006758.2:p.(Gly750Cys)	NC_000022.10:g.21351013G>T	VUS	1 lab	015f89da29
13:36888423 SPART T>A	13	36888423	36888423	T	A	SPART	c.1424A>T	NM_015087.5	NP_055902.1:p.(Lys475Met)	NC_000013.10:g.36888423T>A	VUS	1 lab	01605f0418
5:127595211 FBN2 T>C	5	127595211	127595211	T	C	FBN2	c.8675A>G	NM_001999.3	NP_001990.2:p.(Asp2892Gly)	NC_000005.9:g.127595211T>C	VUS	1 lab	016095a1f8
16:89590511 SPG7 C>T	16	89590511	89590511	C	T	SPG7	c.474C>T	NM_003119.3	NP_003110.1:p.(Leu158=)	NC_000016.9:g.89590511C>T	(Likely) benign	1 lab	01629c2bba
13:24860540 SPATA13 G>A	13	24860540	24860540	G	A	SPATA13	c.2667+9G>A	NM_001286792.1	NP_001273721.1:p.?	NC_000013.10:g.24860540G>A	(Likely) benign	1 lab	016315f492
17:16220036 PIGL G>A	17	16220036	16220036	G	A	PIGL	c.526+10G>A	NM_004278.3	NP_004269.1:p.?	NC_000017.10:g.16220036G>A	(Likely) benign	1 lab	01634359ec
16:68014250 MISSING G>C	16	68014250	68014250	G	C	MISSING				NC_000016.9:g.68014250G>C	VUS	1 lab	0163ff4f8e
2:179441408 TTN C>A	2	179441408	179441408	C	A	TTN	c.69563G>T	NM_001267550.1	NP_001254479.1:p.(Arg23188Ile)	NC_000002.11:g.179441408C>A	VUS	1 lab	0164c6c5e3
7:146805220 CNTNAP2 AT>A	7	146805220	146805231	AT	A	CNTNAP2	c.551-8del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146805231del	(Likely) benign	1 lab	0166f6a41e
16:17564405 XYLT1 G>GCCT	16	17564405	17564421	G	GCCT	XYLT1	c.246_248dup	NM_022166.3	NP_071449.1:p.(Gly90dup)	NC_000016.9:g.17564419_17564421dup	VUS	1 lab	016904fe08
19:42753315 ERF G>A	19	42753315	42753315	G	A	ERF	c.949C>T	NM_006494.3	NP_006485.2:p.(His317Tyr)	NC_000019.9:g.42753315G>A	VUS	1 lab	0169211f1f
9:96061458 WNK2 C>G	9	96061458	96061458	C	G	WNK2	c.6141C>G	NM_001282394.1	NP_001269323.1:p.(Thr2047=)	NC_000009.11:g.96061458C>G	(Likely) benign	1 lab	01693c5a9e
X:84510422 ZNF711 G>A	X	84510422	84510422	G	A	ZNF711	c.237G>A	NM_001330574.1	NP_001317503.1:p.(Glu79=)	NC_000023.10:g.84510422G>A	(Likely) benign	1 lab	016e5566e1
11:47355200 MYBPC3 C>T	11	47355200	47355200	C	T	MYBPC3	c.3098G>A	NM_000256.3	NP_000247.2:p.(Arg1033Gln)	NC_000011.9:g.47355200C>T	VUS	1 lab	016e94e71b
X:43571142 MAOA C>T	X	43571142	43571142	C	T	MAOA	c.330C>T	NM_000240.3	NP_000231.1:p.(Gly110=)	NC_000023.10:g.43571142C>T	(Likely) benign	1 lab	016f71bac6
16:15797883 MYH11 C>A	16	15797883	15797883	C	A	MYH11	c.5905G>T	NM_001040114.1	NP_001035203.1:p.(Asp1969Tyr)	NC_000016.9:g.15797883C>A	VUS	1 lab	01706fbe69
17:29676137 NF1 G>A	17	29676137	29676137	G	A	NF1	c.7127-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29676137G>A	(Likely) pathogenic	1 lab	01731f1f10
1:220366637 RAB3GAP2 G>A	1	220366637	220366637	G	A	RAB3GAP2	c.1215C>T	NM_012414.3	NP_036546.2:p.(Phe405=)	NC_000001.10:g.220366637G>A	(Likely) benign	1 lab	01750b0247
5:149441338 CSF1R C>T	5	149441338	149441338	C	T	CSF1R	c.1701G>A	NM_001349736.1	NP_001336665.1:p.(Thr567=)	NC_000005.9:g.149441338C>T	(Likely) benign	1 lab	0175c1766d
10:17130339 CUBN C>T	10	17130339	17130339	C	T	CUBN	c.1771G>A	NM_001081.3	NP_001072.2:p.(Gly591Arg)	NC_000010.10:g.17130339C>T	VUS	1 lab	01765cfea4
2:44128518 LRPPRC G>A	2	44128518	44128518	G	A	LRPPRC	c.3510C>T	NM_133259.3	NP_573566.2:p.(Asp1170=)	NC_000002.11:g.44128518G>A	(Likely) benign	1 lab	0177714b3c
X:128710002 OCRL G>A	X	128710002	128710002	G	A	OCRL	c.1842G>A	NM_000276.3	NP_000267.2:p.(Trp614Ter)	NC_000023.10:g.128710002G>A	(Likely) pathogenic	1 lab	0178fbc98a
10:74268006 MICU1 T>C	10	74268006	74268006	T	C	MICU1	c.565A>G	NM_006077.3	NP_006068.2:p.(Lys189Glu)	NC_000010.10:g.74268006T>C	(Likely) benign	1 lab	017a774b39
2:179430414 TTN G>A	2	179430414	179430414	G	A	TTN	c.80445C>T	NM_001267550.1	NP_001254479.1:p.(Tyr26815=)	NC_000002.11:g.179430414G>A	(Likely) benign	1 lab	017b24a24c
7:100187951 FBXO24 G>A	7	100187951	100187951	G	A	FBXO24	c.293G>A	NM_033506.3	NP_277041.1:p.(Arg98Gln)	NC_000007.13:g.100187951G>A	VUS	1 lab	017b275a0d
9:135204440 SETX GAAC>G	9	135204440	135204444	GAAC	G	SETX	c.2542_2544del	NM_015046.7	NP_055861.3:p.(Val848del)	NC_000009.11:g.135204442_135204444del	VUS	1 lab	017bacaef7
10:46998925 GPRIN2 C>G	10	46998925	46998925	C	G	GPRIN2	c.45C>G	NM_014696.4	NP_055511.2:p.(Ser15Arg)	NC_000010.10:g.46998925C>G	(Likely) benign	1 lab	017c46ff0c
18:42531178 SETBP1 C>A	18	42531178	42531178	C	A	SETBP1	c.1873C>A	NM_015559.3	NP_056374.2:p.(Arg625=)	NC_000018.9:g.42531178C>A	(Likely) benign	1 lab	df03c58b18
5:70785317 BDP1 G>C	5	70785317	70785317	G	C	BDP1	c.1300G>C	NM_018429.2	NP_060899.2:p.(Asp434His)	NC_000005.9:g.70785317G>C	VUS	1 lab	017cc03f23
20:43836776 SEMG1 G>A	20	43836776	43836776	G	A	SEMG1	c.838G>A	NM_003007.5	NP_002998.1:p.(Gly280Ser)	NC_000020.10:g.43836776G>A	(Likely) benign	1 lab	017d496c31
X:153761251 G6PD G>A	X	153761251	153761251	G	A	G6PD	c.1047C>T	NM_000402.4	NP_000393.4:p.(Thr349=)	NC_000023.10:g.153761251G>A	(Likely) benign	1 lab	017d5fd7f2
10:26443693 MYO3A A>G	10	26443693	26443693	A	G	MYO3A	c.2734A>G	NM_017433.5	NP_059129.3:p.(Thr912Ala)	NC_000010.10:g.26443693A>G	VUS	1 lab	017ef8182c
6:41877208 MED20 G>A	6	41877208	41877208	G	A	MED20	c.36C>T	NM_001305456.1	NP_001292385.1:p.(Ser12=)	NC_000006.11:g.41877208G>A	(Likely) benign	1 lab	017f993e80
17:72308180 DNAI2 G>T	17	72308180	72308180	G	T	DNAI2	c.1533G>T	NM_001353167.2	NP_001340096.1:p.(Glu511Asp)	NC_000017.10:g.72308180G>T	VUS	1 lab	df0683f727
15:40914256 KNL1 C>T	15	40914256	40914256	C	T	KNL1	c.1872C>T	NM_170589.4	NP_733468.3:p.(Thr624=)	NC_000015.9:g.40914256C>T	(Likely) benign	1 lab	0181ec99b3
4:36310064 DTHD1 C>T	4	36310064	36310064	C	T	DTHD1	c.1669C>T	NM_001170700.2	NP_001164171.1:p.(Arg557Ter)	NC_000004.11:g.36310064C>T	VUS	1 lab	01825ebacd
20:17479534 BFSP1 G>A	20	17479534	17479534	G	A	BFSP1	c.887C>T	NM_001195.4	NP_001186.1:p.(Ala296Val)	NC_000020.10:g.17479534G>A	(Likely) benign	1 lab	01863814b3
17:76136904 TMC8 TCTC>T	17	76136904	76136910	TCTC	T	TMC8	c.1903-7_1903-5del	NM_152468.5	NP_689681.2:p.?	NC_000017.10:g.76136908_76136910del	(Likely) benign	1 lab	0186b0462c
1:43887778 SZT2 T>A	1	43887778	43887778	T	A	SZT2	c.1651T>A	NM_015284.3	NP_056099.3:p.(Ser551Thr)	NC_000001.10:g.43887778T>A	VUS	1 lab	0186f194de
6:33133980 COL11A2 G>A	6	33133980	33133980	G	A	COL11A2	c.4396C>T	NM_080680.2	NP_542411.2:p.(Pro1466Ser)	NC_000006.11:g.33133980G>A	VUS	1 lab	018700f5aa
5:149274812 PDE6A G>A	5	149274812	149274812	G	A	PDE6A	c.1662C>T	NM_000440.2	NP_000431.2:p.(Arg554=)	NC_000005.9:g.149274812G>A	(Likely) benign	1 lab	0187d97c3b
5:145512520 LARS1 G>C	5	145512520	145512520	G	C	LARS1	c.2337C>G	NM_020117.10	NP_064502.9:p.(Ala779=)	NC_000005.9:g.145512520G>C	(Likely) benign	1 lab	0188647eb6
X:79999575 BRWD3 C>T	X	79999575	79999575	C	T	BRWD3	c.769G>A	NM_153252.4	NP_694984.4:p.(Val257Ile)	NC_000023.10:g.79999575C>T	(Likely) benign	1 lab	018a5fdccc
10:55616987 PCDH15 C>G	10	55616987	55616987	C	G	PCDH15				NC_000010.10:g.55616987C>G	VUS	1 lab	018ad461db
1:11300517 MTOR C>T	1	11300517	11300517	C	T	MTOR	c.1629G>A	NM_004958.3	NP_004949.1:p.(Leu543=)	NC_000001.10:g.11300517C>T	(Likely) benign	1 lab	018b5ca260
21:46896339 COL18A1 G>A	21	46896339	46896339	G	A	COL18A1	c.1413G>A	NM_030582.4	NP_085059.2:p.(Thr471=)	NC_000021.8:g.46896339G>A	(Likely) benign	1 lab	018bb18334
2:149806388 KIF5C C>T	2	149806388	149806388	C	T	KIF5C	c.750C>T	NM_004522.3	NP_004513.1:p.(Asp250=)	NC_000002.11:g.149806388C>T	(Likely) benign	1 lab	018c0644d2
17:35936487 SYNRG C>A	17	35936487	35936487	C	A	SYNRG	c.853G>T	NM_007247.6	NP_009178.3:p.(Ala285Ser)	NC_000017.10:g.35936487C>A	(Likely) benign	1 lab	018d06d0c5
7:117232697 CFTR G>A	7	117232697	117232697	G	A	CFTR	c.2476G>A	NM_000492.3	NP_000483.3:p.(Glu826Lys)	NC_000007.13:g.117232697G>A	VUS	1 lab	018ded3984
3:49161252 LAMB2 C>T	3	49161252	49161252	C	T	LAMB2	c.3706G>A	NM_002292.3	NP_002283.3:p.(Glu1236Lys)	NC_000003.11:g.49161252C>T	(Likely) benign	1 lab	0192bd08d5
4:106967841 TBCK G>GA	4	106967841	106967850	G	GA	TBCK	c.2056-5dup	NM_001290768.1	NP_001277697.1:p.?	NC_000004.11:g.106967850dup	(Likely) benign	1 lab	019387a306
12:88482980 CEP290 G>T	12	88482980	88482980	G	T	CEP290	c.3858C>A	NM_025114.3	NP_079390.3:p.(Phe1286Leu)	NC_000012.11:g.88482980G>T	VUS	1 lab	0194569fc3
X:20204469 RPS6KA3 C>A	X	20204469	20204469	C	A	RPS6KA3	c.790G>T	NM_004586.3	NP_004577.1:p.(Gly264Cys)	NC_000023.10:g.20204469C>A	VUS	1 lab	df0b21e62c
11:46724256 ZNF408 C>G	11	46724256	46724256	C	G	ZNF408	c.333C>G	NM_024741.2	NP_079017.1:p.(Asn111Lys)	NC_000011.9:g.46724256C>G	VUS	1 lab	0194eb3444
3:128200134 GATA2 CCTT>C	3	128200134	128200141	CCTT	C	GATA2	c.1168_1170del	NM_032638.5	NP_116027.2:p.(Lys390del)	NC_000003.11:g.128200139_128200141del	VUS	1 lab	0195336f56
9:14812828 FREM1 C>T	9	14812828	14812828	C	T	FREM1	c.2875G>A	NM_144966.5	NP_659403.4:p.(Val959Met)	NC_000009.11:g.14812828C>T	VUS	1 lab	019657ab1d
7:91852183 KRIT1 TGAGA>T	7	91852183	91852191	TGAGA	T	KRIT1	c.1360_1363del	NM_194454.3	NP_919436.1:p.(Ser454LysfsTer40)	NC_000007.13:g.91852188_91852191del	(Likely) pathogenic	1 lab	019860b8c2
X:38271192 OTC C>G	X	38271192	38271192	C	G	OTC	c.945C>G	NM_000531.5	NP_000522.3:p.(Val315=)	NC_000023.10:g.38271192C>G	(Likely) benign	1 lab	01a343449b
15:90176395 KIF7 C>G	15	90176395	90176395	C	G	KIF7	c.2695G>C	NM_198525.2	NP_940927.2:p.(Val899Leu)	NC_000015.9:g.90176395C>G	VUS	1 lab	0199147dab
14:23883090 MYH7 T>A	14	23883090	23883090	T	A	MYH7	c.5668A>T	NM_000257.2	NP_000248.2:p.(Asn1890Tyr)	NC_000014.8:g.23883090T>A	VUS	1 lab	01993db37a
11:613589 IRF7 C>G	11	613589	613589	C	G	IRF7	c.893G>C	NM_004031.3	NP_004022.2:p.(Ser298Thr)	NC_000011.9:g.613589C>G	(Likely) benign	1 lab	019a1492a2
15:42147871 SPTBN5 C>T	15	42147871	42147871	C	T	SPTBN5	c.9094G>A	NM_016642.4	NP_057726.4:p.(Glu3032Lys)	NC_000015.9:g.42147871C>T	(Likely) benign	1 lab	019c25fbdc
19:1467515 APC2 G>A	19	1467515	1467515	G	A	APC2	c.4215G>A	NM_005883.2	NP_005874.1:p.(Ser1405=)	NC_000019.9:g.1467515G>A	(Likely) benign	1 lab	019c71f092
21:27394191 APP G>A	21	27394191	27394191	G	A	APP	c.830C>T	NM_000484.3	NP_000475.1:p.(Thr277Ile)	NC_000021.8:g.27394191G>A	VUS	1 lab	019cb2c13f
19:9087586 MUC16 G>A	19	9087586	9087586	G	A	MUC16	c.4229C>T	NM_024690.2	NP_078966.2:p.(Thr1410Ile)	NC_000019.9:g.9087586G>A	(Likely) benign	1 lab	019d9a7458
14:21793506 RPGRIP1 C>A	14	21793506	21793506	C	A	RPGRIP1	c.2331C>A	NM_020366.3	NP_065099.3:p.(Thr777=)	NC_000014.8:g.21793506C>A	(Likely) benign	1 lab	01a02262d7
12:103246672 PAH A>G	12	103246672	103246672	A	G	PAH	c.763T>C	NM_000277.1	NP_000268.1:p.(Leu255=)	NC_000012.11:g.103246672A>G	(Likely) pathogenic	1 lab	01a1425263
5:34936270 DNAJC21 A>T	5	34936270	34936270	A	T	DNAJC21	c.337A>T	NM_194283.3	NP_919259.3:p.(Asn113Tyr)	NC_000005.9:g.34936270A>T	VUS	1 lab	01a1a6e26d
2:240029738 HDAC4 G>A	2	240029738	240029738	G	A	HDAC4	c.2097+8C>T	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240029738G>A	(Likely) benign	1 lab	01a218dc01
17:9497522 CFAP52 G>A	17	9497522	9497522	G	A	CFAP52	c.420G>A	NM_145054.5	NP_659491.4:p.(Trp140Ter)	NC_000017.10:g.9497522G>A	(Likely) pathogenic	1 lab	01a2668c65
20:10389271 MKKS C>T	20	10389271	10389271	C	T	MKKS	c.1161+5G>A	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10389271C>T	VUS	1 lab	01d4359389
2:223161799 PAX3 C>T	2	223161799	223161799	C	T	PAX3	c.219G>A	NM_181458.3	NP_852123.1:p.(Ser73=)	NC_000002.11:g.223161799C>T	(Likely) benign	1 lab	01a347e9dc
X:153780355 IKBKG C>T	X	153780355	153780355	C	T	IKBKG	c.138C>T	NM_001099857.2	NP_001093327.1:p.(Gly46=)	NC_000023.10:g.153780355C>T	(Likely) benign	1 lab	01a3cce4ca
7:65425986 GUSB T>C	7	65425986	65425986	T	C	GUSB	c.1854A>G	NM_000181.3	NP_000172.2:p.(Ala618=)	NC_000007.13:g.65425986T>C	(Likely) benign	1 lab	01a3efef3e
5:126156638 LMNB1 A>C	5	126156638	126156638	A	C	LMNB1	c.1197A>C	NM_005573.3	NP_005564.1:p.(Thr399=)	NC_000005.9:g.126156638A>C	(Likely) benign	1 lab	01a4bb0276
16:2104295 TSC2 A>G	16	2104295	2104295	A	G	TSC2	c.337-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2104295A>G	(Likely) pathogenic	1 lab	01a5412b24
10:75532358 POFUT4 C>G	10	75532358	75532358	C	G	POFUT4	c.267C>G	NM_001284194.1	NP_001271123.1:p.(Phe89Leu)	NC_000010.10:g.75532358C>G	VUS	1 lab	01a75e7649
1:43395589 SLC2A1 G>A	1	43395589	43395589	G	A	SLC2A1	c.634C>T	NM_006516.3	NP_006507.2:p.(Arg212Cys)	NC_000001.10:g.43395589G>A	(Likely) pathogenic	1 lab	01a98de82f
2:136570171 LCT G>A	2	136570171	136570171	G	A	LCT	c.2063C>T	NM_002299.2	NP_002290.2:p.(Ser688Phe)	NC_000002.11:g.136570171G>A	VUS	1 lab	01a9bd9020
21:44838331 SIK1 G>A	21	44838331	44838331	G	A	SIK1	c.1553C>T	NM_173354.4	NP_775490.2:p.(Ala518Val)	NC_000021.8:g.44838331G>A	(Likely) benign	1 lab	01ac5d8c8b
17:57126622 TRIM37 C>T	17	57126622	57126622	C	T	TRIM37	c.1447G>A	NM_015294.6	NP_056109.1:p.(Glu483Lys)	NC_000017.10:g.57126622C>T	VUS	1 lab	01acf041fd
7:100773769 SERPINE1 G>C	7	100773769	100773769	G	C	SERPINE1	c.339G>C	NM_000602.4	NP_000593.1:p.(Glu113Asp)	NC_000007.13:g.100773769G>C	(Likely) benign	1 lab	01adb7546b
12:57037745 ATP5F1B G>A	12	57037745	57037745	G	A	ATP5F1B	c.486-3C>T	NM_001686.4	NP_001677.2:p.?	NC_000012.11:g.57037745G>A	(Likely) benign	1 lab	01ae3c85c7
1:20960364 PINK1 TG>T	1	20960364	20960367	TG	T	PINK1	c.326del	NM_032409.3	NP_115785.1:p.(Gly109AlafsTer49)	NC_000001.10:g.20960367del	(Likely) pathogenic	1 lab	01af22dd11
18:55230130 FECH C>T	18	55230130	55230130	C	T	FECH				NC_000018.9:g.55230130C>T	(Likely) pathogenic	1 lab	027cbb3c03
4:104053957 CENPE C>T	4	104053957	104053957	C	T	CENPE	c.6817G>A	NM_001813.2	NP_001804.2:p.(Glu2273Lys)	NC_000004.11:g.104053957C>T	VUS	1 lab	01afce4381
9:95077169 NOL8 A>G	9	95077169	95077169	A	G	NOL8	c.1534T>C	NM_001256394.1	NP_001243323.1:p.(Tyr512His)	NC_000009.11:g.95077169A>G	(Likely) benign	1 lab	01b0d19327
10:19464176 MALRD1 G>A	10	19464176	19464176	G	A	MALRD1	c.1870G>A	NM_001142308.3	NP_001135780.2:p.(Val624Ile)	NC_000010.10:g.19464176G>A	(Likely) benign	1 lab	01b1bb4615
X:129270160 AIFM1 C>T	X	129270160	129270160	C	T	AIFM1	c.1165G>A	NM_004208.3	NP_004199.1:p.(Val389Ile)	NC_000023.10:g.129270160C>T	(Likely) benign	1 lab	01b1c36e5b
20:50408707 SALL4 G>A	20	50408707	50408707	G	A	SALL4	c.315C>T	NM_001318031.1	NP_001304960.1:p.(Asp105=)	NC_000020.10:g.50408707G>A	(Likely) benign	1 lab	01b202acd7
22:18923644 PRODH CGGCGGGCACCGGCGGCCGCACTGCCGT>C	22	18923644	18923674	CGGCGGGCACCGGCGGCCGCACTGCCGT	C	PRODH	c.130_156del	NM_016335.6	NP_057419.5:p.(Thr44_Ala52del)	NC_000022.10:g.18923648_18923674del	VUS	1 lab	01b5020cc2
12:58127838 AGAP2 C>A	12	58127838	58127838	C	A	AGAP2	c.1520G>T	NM_001122772.2	NP_001116244.1:p.(Gly507Val)	NC_000012.11:g.58127838C>A	VUS	1 lab	01b80cca74
8:116551 OR4F21 G>C	8	116551	116551	G	C	OR4F21	c.474C>G	NM_001005504.1	NP_001005504.1:p.(Phe158Leu)	NC_000008.10:g.116551G>C	(Likely) benign	1 lab	01b88b16b2
11:17653386 OTOG C>T	11	17653386	17653386	C	T	OTOG	c.6886C>T	NM_001277269.1	NP_001264198.1:p.(Arg2296Cys)	NC_000011.9:g.17653386C>T	VUS	1 lab	01bae43da3
15:28358819 HERC2 T>C	15	28358819	28358819	T	C	HERC2	c.13919A>G	NM_004667.5	NP_004658.3:p.(His4640Arg)	NC_000015.9:g.28358819T>C	(Likely) benign	1 lab	01bb42c7ac
5:156810294 CYFIP2 G>A	5	156810294	156810294	G	A	CYFIP2	c.3134G>A	NM_001037333.3	NP_001032410.1:p.(Arg1045Gln)	NC_000005.9:g.156810294G>A	VUS	1 lab	df1112978a
19:1467510 APC2 G>A	19	1467510	1467510	G	A	APC2	c.4210G>A	NM_005883.2	NP_005874.1:p.(Ala1404Thr)	NC_000019.9:g.1467510G>A	(Likely) benign	1 lab	01bb7f02b8
9:36882070 PAX5 A>AC	9	36882070	36882073	A	AC	PAX5	c.942dup	NM_016734.2	NP_057953.1:p.(Tyr315ValfsTer26)	NC_000009.11:g.36882073dup	VUS	1 lab	01bc7610e4
20:62323199 RTEL1 GCTGTCC>G	20	62323199	62323208	GCTGTCC	G	RTEL1	c.2652+13_2652+18del	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62323203_62323208del	(Likely) benign	1 lab	01bd80c6fb
18:43529490 EPG5 C>A	18	43529490	43529490	C	A	EPG5	c.1457G>T	NM_020964.3	NP_066015.2:p.(Cys486Phe)	NC_000018.9:g.43529490C>A	VUS	1 lab	01be25f319
4:79308523 FRAS1 C>T	4	79308523	79308523	C	T	FRAS1	c.3649-6C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79308523C>T	(Likely) benign	1 lab	01be2edefb
10:81923322 ANXA11 G>A	10	81923322	81923322	G	A	ANXA11	c.997C>T	NM_145868.2	NP_665875.1:p.(His333Tyr)	NC_000010.10:g.81923322G>A	VUS	1 lab	01bef48b88
21:45948385 TSPEAR C>T	21	45948385	45948385	C	T	TSPEAR	c.668G>A	NM_001272037.1	NP_001258966.1:p.(Arg223Gln)	NC_000021.8:g.45948385C>T	VUS	1 lab	01bf193bff
17:18029678 MYO15A C>T	17	18029678	18029678	C	T	MYO15A	c.3774C>T	NM_016239.3	NP_057323.3:p.(Ile1258=)	NC_000017.10:g.18029678C>T	(Likely) benign	1 lab	01bf476732
12:66742867 GRIP1 T>C	12	66742867	66742867	T	C	GRIP1	c.3319A>G	NM_001366722.1	NP_001353651.1:p.(Ser1107Gly)	NC_000012.11:g.66742867T>C	VUS	1 lab	01c05611b5
5:82834977 VCAN A>G	5	82834977	82834977	A	G	VCAN	c.6155A>G	NM_004385.5	NP_004376.2:p.(Asn2052Ser)	NC_000005.9:g.82834977A>G	(Likely) benign	1 lab	df1127f868
X:15349989 PIGA G>A	X	15349989	15349989	G	A	PIGA	c.64C>T	NM_002641.3	NP_002632.1:p.(Pro22Ser)	NC_000023.10:g.15349989G>A	(Likely) benign	1 lab	01c2a44b85
12:80762087 OTOGL G>T	12	80762087	80762087	G	T	OTOGL	c.6586G>T	NM_173591.3	NP_775862.3:p.(Ala2196Ser)	NC_000012.11:g.80762087G>T	(Likely) benign	1 lab	01c404323f
5:157166470 THG1L A>T	5	157166470	157166470	A	T	THG1L	c.502A>T	NM_001317825.1	NP_001304754.1:p.(Ile168Phe)	NC_000005.9:g.157166470A>T	VUS	1 lab	01c465b672
6:64694297 EYS C>T	6	64694297	64694297	C	T	EYS	c.7034G>A	NM_001292009.1	NP_001278938.1:p.(Arg2345His)	NC_000006.11:g.64694297C>T	(Likely) benign	1 lab	01c53c6447
14:89073689 ZC3H14 ACCCCATCTCACCCTGCAAGTGAGTACCATCC>A	14	89073689	89073771	ACCCCATCTCACCCTGCAAGTGAGTACCATCC	A	ZC3H14	c.1868+34_1868+64del	NM_024824.5	NP_079100.2:p.?	NC_000014.8:g.89073741_89073771del	VUS	1 lab	df12abf715
19:36235225 U2AF1L4 T>C	19	36235225	36235225	T	C	U2AF1L4	c.230A>G	NM_001040425.3	NP_001035515.1:p.(Lys77Arg)	NC_000019.9:g.36235225T>C	VUS	1 lab	01c5ee1a25
3:42733411 KLHL40 C>G	3	42733411	42733411	C	G	KLHL40	c.1792C>G	NM_152393.3	NP_689606.2:p.(Arg598Gly)	NC_000003.11:g.42733411C>G	VUS	1 lab	01c71c74f2
2:152553730 NEB T>C	2	152553730	152553730	T	C	NEB	c.1402A>G	NM_001271208.1	NP_001258137.1:p.(Lys468Glu)	NC_000002.11:g.152553730T>C	VUS	1 lab	01c7418af0
16:2335642 ABCA3 C>T	16	2335642	2335642	C	T	ABCA3	c.3284G>A	NM_001089.2	NP_001080.2:p.(Arg1095Gln)	NC_000016.9:g.2335642C>T	(Likely) benign	1 lab	01c7a46e11
3:11058910 SLC6A1 G>C	3	11058910	11058910	G	C	SLC6A1	c.13G>C	NM_003042.3	NP_003033.3:p.(Gly5Arg)	NC_000003.11:g.11058910G>C	VUS	1 lab	01c84ed940
10:70998835 HKDC1 G>A	10	70998835	70998835	G	A	HKDC1	c.533G>A	NM_025130.3	NP_079406.3:p.(Arg178Gln)	NC_000010.10:g.70998835G>A	VUS	1 lab	01c86b9aec
17:12639565 MYOCD G>A	17	12639565	12639565	G	A	MYOCD	c.503G>A	NM_001146312.2	NP_001139784.1:p.(Arg168Gln)	NC_000017.10:g.12639565G>A	VUS	1 lab	01cbb0a1f4
19:868444 MED16 A>G	19	868444	868444	A	G	MED16	c.2455T>C	NM_005481.3	NP_005472.2:p.(Trp819Arg)	NC_000019.9:g.868444A>G	VUS	1 lab	01cce79111
14:52481771 NID2 C>T	14	52481771	52481771	C	T	NID2	c.3250+1G>A	NM_007361.4	NP_031387.3:p.?	NC_000014.8:g.52481771C>T	VUS	1 lab	01ccf8d899
9:13126597 MPDZ G>T	9	13126597	13126597	G	T	MPDZ	c.4558-8C>A	NM_003829.4	NP_003820.2:p.?	NC_000009.11:g.13126597G>T	(Likely) benign	1 lab	01ce27e8e9
13:111130456 COL4A2 A>G	13	111130456	111130456	A	G	COL4A2	c.2532A>G	NM_001846.3	NP_001837.2:p.(Pro844=)	NC_000013.10:g.111130456A>G	(Likely) benign	1 lab	01d0896fdd
9:140917846 CACNA1B AGCGGCC>A	9	140917846	140917860	AGCGGCC	A	CACNA1B	c.2660_2665del	NM_000718.4	NP_000709.1:p.(Arg887_Pro888del)	NC_000009.11:g.140917855_140917860del	VUS	1 lab	01d2da5ac1
15:38643574 SPRED1 TAG>T	15	38643574	38643576	TAG	T	SPRED1	c.1045_1046del	NM_152594.3	NP_689807.1:p.(Arg349GlyfsTer11)	NC_000015.9:g.38643575_38643576del	(Likely) pathogenic	1 lab	01d5837aa1
X:69811657 TEX11 C>T	X	69811657	69811657	C	T	TEX11	c.2129G>A	NM_001003811.1	NP_001003811.1:p.(Arg710His)	NC_000023.10:g.69811657C>T	(Likely) benign	1 lab	01d8d58b95
1:152282017 FLG G>C	1	152282017	152282017	G	C	FLG	c.5345C>G	NM_002016.1	NP_002007.1:p.(Thr1782Arg)	NC_000001.10:g.152282017G>C	VUS	1 lab	01d9910174
17:41956733 MPP2 G>A	17	41956733	41956733	G	A	MPP2	c.1392C>T	NM_001278381.1	NP_001265310.1:p.(Tyr464=)	NC_000017.10:g.41956733G>A	(Likely) benign	1 lab	01da103894
1:64624797 ROR1 G>A	1	64624797	64624797	G	A	ROR1	c.1308G>A	NM_005012.3	NP_005003.2:p.(Ser436=)	NC_000001.10:g.64624797G>A	(Likely) benign	1 lab	01db1c99e0
18:53255261 TCF4 G>T	18	53255261	53255261	G	T	TCF4	c.-21+8C>A	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.53255261G>T	(Likely) benign	1 lab	01ddc711ab
16:88498493 ZNF469 G>A	16	88498493	88498493	G	A	ZNF469				NC_000016.9:g.88498493G>A	(Likely) benign	1 lab	01e11bb9e7
19:36574018 WDR62 G>A	19	36574018	36574018	G	A	WDR62	c.1425G>A	NM_001083961.1	NP_001077430.1:p.(Met475Ile)	NC_000019.9:g.36574018G>A	(Likely) benign	1 lab	01e16a1f35
11:61541463 MYRF T>C	11	61541463	61541463	T	C	MYRF	c.1140T>C	NM_001127392.2	NP_001120864.1:p.(Asp380=)	NC_000011.9:g.61541463T>C	(Likely) benign	1 lab	01e24d748a
16:2136752 TSC2 CCT>C	16	2136752	2136754	CCT	C	TSC2	c.4870_4871del	NM_000548.5	NP_000539.2:p.(Leu1624AspfsTer28)	NC_000016.9:g.2136753_2136754del	(Likely) pathogenic	1 lab	01e2ab0324
18:50942514 DCC G>T	18	50942514	50942514	G	T	DCC	c.3151G>T	NM_005215.3	NP_005206.2:p.(Ala1051Ser)	NC_000018.9:g.50942514G>T	VUS	1 lab	01e301cfc9
4:996919 IDUA C>T	4	996919	996919	C	T	IDUA	c.1498C>T	NM_000203.5	NP_000194.2:p.(Gln500Ter)	NC_000004.11:g.996919C>T	(Likely) pathogenic	1 lab	01e31d64a3
20:10385919 MKKS T>C	20	10385919	10385919	T	C	MKKS	c.1689A>G	NM_018848.3	NP_061336.1:p.(Ser563=)	NC_000020.10:g.10385919T>C	(Likely) benign	1 lab	01e3ccca96
2:191897733 STAT4 A>G	2	191897733	191897733	A	G	STAT4	c.1995T>C	NM_003151.3	NP_003142.1:p.(Ile665=)	NC_000002.11:g.191897733A>G	(Likely) benign	1 lab	01e4c3f64c
4:186548146 SORBS2 C>T	4	186548146	186548146	C	T	SORBS2	c.1062G>A	NM_001270771.1	NP_001257700.1:p.(Arg354=)	NC_000004.11:g.186548146C>T	(Likely) benign	1 lab	01e5eea9c4
12:56625097 SLC39A5 C>G	12	56625097	56625097	C	G	SLC39A5	c.39C>G	NM_173596.2	NP_775867.2:p.(Phe13Leu)	NC_000012.11:g.56625097C>G	VUS	1 lab	01e6970a91
12:52881722 KRT6A C>T	12	52881722	52881722	C	T	KRT6A	c.1477G>A	NM_005554.4	NP_005545.1:p.(Val493Ile)	NC_000012.11:g.52881722C>T	(Likely) benign	1 lab	df1364ea00
16:31336912 ITGAM T>C	16	31336912	31336912	T	C	ITGAM	c.2600T>C	NM_001145808.1	NP_001139280.1:p.(Ile867Thr)	NC_000016.9:g.31336912T>C	VUS	1 lab	01e965de8c
11:47364175 MYBPC3 T>A	11	47364175	47364175	T	A	MYBPC3	c.1578A>T	NM_000256.3	NP_000247.2:p.(Ala526=)	NC_000011.9:g.47364175T>A	(Likely) benign	1 lab	01e9bf8231
3:132406059 NPHP3 G>C	3	132406059	132406059	G	C	NPHP3	c.3137C>G	NM_153240.4	NP_694972.3:p.(Ala1046Gly)	NC_000003.11:g.132406059G>C	VUS	1 lab	01e9e6a251
20:10622486 JAG1 C>T	20	10622486	10622486	C	T	JAG1	c.2627G>A	NM_000214.3	NP_000205.1:p.(Trp876Ter)	NC_000020.10:g.10622486C>T	(Likely) pathogenic	1 lab	01eb250708
9:100840486 NANS G>A	9	100840486	100840486	G	A	NANS	c.460G>A	NM_018946.3	NP_061819.2:p.(Val154Met)	NC_000009.11:g.100840486G>A	VUS	1 lab	01eb4f0984
19:49206930 FUT2 CGTG>C	19	49206930	49206935	CGTG	C	FUT2	c.720_722del	NM_000511.6	NP_000502.4:p.(Val241del)	NC_000019.9:g.49206933_49206935del	VUS	1 lab	01ec2e60b1
X:69176983 EDA G>A	X	69176983	69176983	G	A	EDA	c.502+1G>A	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69176983G>A	(Likely) pathogenic	1 lab	df144f0640
X:75649167 MAGEE1 A>G	X	75649167	75649167	A	G	MAGEE1	c.844A>G	NM_020932.2	NP_065983.1:p.(Ile282Val)	NC_000023.10:g.75649167A>G	VUS	1 lab	01eda35ccd
19:10463113 TYK2 G>C	19	10463113	10463113	G	C	TYK2	c.3315C>G	NM_003331.4	NP_003322.3:p.(Pro1105=)	NC_000019.9:g.10463113G>C	(Likely) benign	1 lab	01ee8239a0
19:13423568 CACNA1A A>G	19	13423568	13423568	A	G	CACNA1A	c.1586T>C	NM_023035.3	NP_075461.2:p.(Leu529Pro)	NC_000019.9:g.13423568A>G	VUS	1 lab	df18030e70
4:187525108 FAT1 C>G	4	187525108	187525108	C	G	FAT1	c.10572G>C	NM_005245.3	NP_005236.2:p.(Gln3524His)	NC_000004.11:g.187525108C>G	VUS	1 lab	01f1c738e1
3:11067497 SLC6A1 C>T	3	11067497	11067497	C	T	SLC6A1	c.888C>T	NM_003042.3	NP_003033.3:p.(Tyr296=)	NC_000003.11:g.11067497C>T	(Likely) benign	1 lab	01f1e9fe0e
6:45882076 CLIC5 C>A	6	45882076	45882076	C	A	CLIC5	c.954G>T	NM_001114086.1	NP_001107558.1:p.(Glu318Asp)	NC_000006.11:g.45882076C>A	VUS	1 lab	01f360e47a
15:28473388 HERC2 T>C	15	28473388	28473388	T	C	HERC2	c.5440A>G	NM_004667.5	NP_004658.3:p.(Thr1814Ala)	NC_000015.9:g.28473388T>C	(Likely) benign	1 lab	01f6d71fb5
1:152285124 FLG C>T	1	152285124	152285124	C	T	FLG	c.2238G>A	NM_002016.1	NP_002007.1:p.(Gln746=)	NC_000001.10:g.152285124C>T	(Likely) benign	1 lab	01f8d45534
20:35532593 SAMHD1 G>A	20	35532593	35532593	G	A	SAMHD1	c.1470C>T	NM_015474.3	NP_056289.2:p.(Asp490=)	NC_000020.10:g.35532593G>A	(Likely) benign	1 lab	01f9c804c6
1:1597255 SLC35E2B G>A	1	1597255	1597255	G	A	SLC35E2B	c.1184C>T	NM_001290264.1	NP_001277193.1:p.(Pro395Leu)	NC_000001.10:g.1597255G>A	VUS	1 lab	01fca09670
10:16957051 CUBN C>T	10	16957051	16957051	C	T	CUBN	c.7331G>A	NM_001081.3	NP_001072.2:p.(Arg2444Gln)	NC_000010.10:g.16957051C>T	(Likely) benign	1 lab	01fcfac528
17:29553451 NF1 A>T	17	29553451	29553451	A	T	NF1	c.2002-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553451A>T	(Likely) pathogenic	1 lab	01fd2e5580
2:219544654 STK36 C>T	2	219544654	219544654	C	T	STK36	c.987C>T	NM_015690.4	NP_056505.2:p.(Asp329=)	NC_000002.11:g.219544654C>T	(Likely) benign	1 lab	01fd5ec7b5
15:74536476 CCDC33 C>T	15	74536476	74536476	C	T	CCDC33	c.172C>T	NM_025055.4	NP_079331.3:p.(Pro58Ser)	NC_000015.9:g.74536476C>T	VUS	1 lab	01ffa75eec
5:78076460 ARSB C>T	5	78076460	78076460	C	T	ARSB	c.1362G>A	NM_000046.4	NP_000037.2:p.(Pro454=)	NC_000005.9:g.78076460C>T	(Likely) benign	1 lab	020161f122
6:169637300 THBS2 C>T	6	169637300	169637300	C	T	THBS2	c.1442G>A	NM_003247.3	NP_003238.2:p.(Arg481Gln)	NC_000006.11:g.169637300C>T	VUS	1 lab	0201722e09
11:2591984 KCNQ1 G>A	11	2591984	2591984	G	A	KCNQ1	c.604G>A	NM_000218.2	NP_000209.2:p.(Asp202Asn)	NC_000011.9:g.2591984G>A	(Likely) pathogenic	1 lab	0201cdca76
7:103393622 RELN C>A	7	103393622	103393622	C	A	RELN	c.577+7G>T	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103393622C>A	(Likely) benign	1 lab	02034faa07
8:10623312 PINX1 G>A	8	10623312	10623312	G	A	PINX1	c.586C>T	NM_017884.6	NP_060354.4:p.(Pro196Ser)	NC_000008.10:g.10623312G>A	(Likely) benign	1 lab	0203658c75
9:133760167 ABL1 C>A	9	133760167	133760167	C	A	ABL1	c.2547C>A	NM_007313.2	NP_009297.2:p.(Leu849=)	NC_000009.11:g.133760167C>A	(Likely) benign	1 lab	0204bb81f0
1:209803974 LAMB3 G>A	1	209803974	209803974	G	A	LAMB3	c.929C>T	NM_001017402.1	NP_001017402.1:p.(Ala310Val)	NC_000001.10:g.209803974G>A	(Likely) benign	1 lab	02054fc4bb
12:116429285 MED13L G>C	12	116429285	116429285	G	C	MED13L	c.3474C>G	NM_015335.4	NP_056150.1:p.(Tyr1158Ter)	NC_000012.11:g.116429285G>C	(Likely) pathogenic	1 lab	020673d78f
8:116631780 TRPS1 C>T	8	116631780	116631780	C	T	TRPS1	c.545G>A	NM_014112.4	NP_054831.2:p.(Ser182Asn)	NC_000008.10:g.116631780C>T	VUS	1 lab	02073ee309
6:86282059 SNX14 G>A	6	86282059	86282059	G	A	SNX14	c.358C>T	NM_001350532.1	NP_001337461.1:p.(His120Tyr)	NC_000006.11:g.86282059G>A	VUS	1 lab	0207e75a40
17:76573370 DNAH17 C>T	17	76573370	76573370	C	T	DNAH17	c.-26+7G>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76573370C>T	(Likely) benign	1 lab	0208a792c1
8:106813971 ZFPM2 A>T	8	106813971	106813971	A	T	ZFPM2	c.1265A>T	NM_001362837.1	NP_001349766.1:p.(Asn422Ile)	NC_000008.10:g.106813971A>T	VUS	1 lab	0209259d11
9:131394400 SPTAN1 C>A	9	131394400	131394400	C	A	SPTAN1	c.6763-6C>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131394400C>A	(Likely) benign	1 lab	0209b38ae2
16:88498195 ZNF469 G>A	16	88498195	88498195	G	A	ZNF469				NC_000016.9:g.88498195G>A	(Likely) benign	1 lab	0215b8caf0
1:45796215 MUTYH A>G	1	45796215	45796215	A	G	MUTYH	c.1491T>C	NM_001128425.1	NP_001121897.1:p.(Tyr497=)	NC_000001.10:g.45796215A>G	(Likely) benign	1 lab	020aecea3b
11:78443589 TENM4 G>T	11	78443589	78443589	G	T	TENM4	c.2910C>A	NM_001098816.2	NP_001092286.2:p.(Ile970=)	NC_000011.9:g.78443589G>T	(Likely) benign	1 lab	020bbad8dd
12:1987517 CACNA2D4 A>G	12	1987517	1987517	A	G	CACNA2D4	c.1683T>C	NM_172364.4	NP_758952.4:p.(Asn561=)	NC_000012.11:g.1987517A>G	(Likely) benign	1 lab	020d1c793b
18:6961575 LAMA1 C>T	18	6961575	6961575	C	T	LAMA1	c.7626+10G>A	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6961575C>T	(Likely) benign	1 lab	020ddc8c59
16:2114308 TSC2 C>T	16	2114308	2114308	C	T	TSC2	c.1479C>T	NM_000548.3	NP_000539.2:p.(Leu493=)	NC_000016.9:g.2114308C>T	(Likely) benign	1 lab	020eb69409
2:179437208 TTN T>C	2	179437208	179437208	T	C	TTN	c.73651A>G	NM_001267550.1	NP_001254479.1:p.(Ile24551Val)	NC_000002.11:g.179437208T>C	VUS	1 lab	02112a1a19
6:118880239 PLN T>C	6	118880239	118880239	T	C	PLN	c.155T>C	NM_002667.3	NP_002658.1:p.(Leu52Pro)	NC_000006.11:g.118880239T>C	VUS	1 lab	02115f0a04
1:94497487 ABCA4 C>T	1	94497487	94497487	C	T	ABCA4	c.3975G>A	NM_000350.2	NP_000341.2:p.(Pro1325=)	NC_000001.10:g.94497487C>T	(Likely) benign	1 lab	021255f3ae
X:152027361 NSDHL G>A	X	152027361	152027361	G	A	NSDHL	c.315G>A	NM_015922.3	NP_057006.1:p.(Ala105=)	NC_000023.10:g.152027361G>A	(Likely) benign	1 lab	02135520b1
9:94486806 ROR2 C>T	9	94486806	94486806	C	T	ROR2	c.1970G>A	NM_004560.4	NP_004551.2:p.(Arg657His)	NC_000009.11:g.94486806C>T	VUS	1 lab	df2be87462
5:16179294 MARCHF11 C>T	5	16179294	16179294	C	T	MARCHF11	c.391G>A	NM_001102562.3	NP_001096032.1:p.(Glu131Lys)	NC_000005.9:g.16179294C>T	(Likely) benign	1 lab	0216912a78
16:72141614 DHX38 C>T	16	72141614	72141614	C	T	DHX38	c.2880C>T	NM_014003.3	NP_054722.2:p.(Ile960=)	NC_000016.9:g.72141614C>T	(Likely) benign	1 lab	02184dfbea
10:89711893 PTEN C>T	10	89711893	89711893	C	T	PTEN	c.511C>T	NM_000314.4	NP_000305.3:p.(Gln171Ter)	NC_000010.10:g.89711893C>T	(Likely) pathogenic	1 lab	0218972e52
8:6289081 MCPH1 C>T	8	6289081	6289081	C	T	MCPH1	c.295C>T	NM_001322042.1	NP_001308971.1:p.(His99Tyr)	NC_000008.10:g.6289081C>T	(Likely) benign	1 lab	0219543a53
16:83520167 CDH13 G>A	16	83520167	83520167	G	A	CDH13	c.867G>A	NM_001257.5	NP_001248.1:p.(Gln289=)	NC_000016.9:g.83520167G>A	(Likely) benign	1 lab	021a300c65
5:70895499 MCCC2 G>C	5	70895499	70895499	G	C	MCCC2	c.295G>C	NM_022132.5	NP_071415.1:p.(Glu99Gln)	NC_000005.9:g.70895499G>C	(Likely) pathogenic	1 lab	df2e18a0b0
10:55944894 PCDH15 C>T	10	55944894	55944894	C	T	PCDH15	c.1440G>A	NM_001354429.1	NP_001341358.1:p.(Ser480=)	NC_000010.10:g.55944894C>T	VUS	1 lab	021c5538dd
X:153175784 ARHGAP4 G>A	X	153175784	153175784	G	A	ARHGAP4	c.2117C>T	NM_001164741.1	NP_001158213.1:p.(Pro706Leu)	NC_000023.10:g.153175784G>A	(Likely) benign	1 lab	021c67ff21
2:26725238 OTOF C>T	2	26725238	26725238	C	T	OTOF	c.640G>A	NM_194248.2	NP_919224.1:p.(Asp214Asn)	NC_000002.11:g.26725238C>T	(Likely) benign	1 lab	021d6bafff
7:142459658 PRSS1 C>T	7	142459658	142459658	C	T	PRSS1	c.234C>T	NM_002769.4	NP_002760.1:p.(Ile78=)	NC_000007.13:g.142459658C>T	(Likely) benign	1 lab	021da516b3
3:184072427 CLCN2 C>G	3	184072427	184072427	C	G	CLCN2	c.1416G>C	NM_004366.5	NP_004357.3:p.(Leu472=)	NC_000003.11:g.184072427C>G	(Likely) benign	1 lab	021e8683b1
1:228540687 OBSCN G>A	1	228540687	228540687	G	A	OBSCN	c.21456G>A	NM_001271223.2	NP_001258152.2:p.(Ala7152=)	NC_000001.10:g.228540687G>A	(Likely) benign	1 lab	021e9484db
X:47775091 ZNF81 A>C	X	47775091	47775091	A	C	ZNF81	c.1046A>C	NM_007137.3	NP_009068.2:p.(Glu349Ala)	NC_000023.10:g.47775091A>C	VUS	1 lab	021efc4e43
12:66856876 GRIP1 A>G	12	66856876	66856876	A	G	GRIP1	c.873-3T>C	NM_021150.3	NP_066973.2:p.?	NC_000012.11:g.66856876A>G	(Likely) benign	1 lab	021f4e4adf
21:46888559 COL18A1 A>G	21	46888559	46888559	A	G	COL18A1	c.510A>G	NM_130445.2	NP_569712.2:p.(Ala170=)	NC_000021.8:g.46888559A>G	(Likely) benign	1 lab	0220904f46
9:5431976 PLGRKT A>G	9	5431976	5431976	A	G	PLGRKT	c.2T>C	NM_018465.4	NP_060935.2:p.(Met1?)	NC_000009.11:g.5431976A>G	VUS	1 lab	0224b60b38
1:197398588 CRB1 T>C	1	197398588	197398588	T	C	CRB1	c.2614T>C	NM_001257965.1	NP_001244894.1:p.(Cys872Arg)	NC_000001.10:g.197398588T>C	VUS	1 lab	022951a6cc
X:118108891 LONRF3 C>T	X	118108891	118108891	C	T	LONRF3	c.148C>T	NM_001031855.2	NP_001027026.1:p.(Pro50Ser)	NC_000023.10:g.118108891C>T	(Likely) benign	1 lab	022a2e030f
19:501782 MADCAM1 T>TCCCAGGAGCCTCCCGACAC	19	501782	501786	T	TCCCAGGAGCCTCCCGACAC	MADCAM1	c.784_785insAGGAGCCTCCCGACACCCC	NM_130760.3	NP_570116.2:p.(Pro262GlnfsTer39)	NC_000019.9:g.501785_501786insAGGAGCCTCCCGACACCCC	(Likely) benign	1 lab	022aca9f55
16:88504204 ZNF469 G>T	16	88504204	88504204	G	T	ZNF469				NC_000016.9:g.88504204G>T	(Likely) benign	1 lab	022d3ec742
17:3447914 TRPV3 C>T	17	3447914	3447914	C	T	TRPV3	c.270G>A	NM_001258205.2	NP_001245134.1:p.(Gln90=)	NC_000017.10:g.3447914C>T	(Likely) benign	1 lab	df31b5e131
12:80761995 OTOGL A>G	12	80761995	80761995	A	G	OTOGL	c.6494A>G	NM_173591.3	NP_775862.3:p.(Tyr2165Cys)	NC_000012.11:g.80761995A>G	VUS	1 lab	022d808d66
X:149638996 MAMLD1 C>T	X	149638996	149638996	C	T	MAMLD1	c.1151C>T	NM_005491.4	NP_005482.2:p.(Pro384Leu)	NC_000023.10:g.149638996C>T	VUS	1 lab	df358d393b
2:179590654 TTN G>A	2	179590654	179590654	G	A	TTN	c.20395C>T	NM_001267550.2	NP_001254479.2:p.(Arg6799Trp)	NC_000002.11:g.179590654G>A	VUS	1 lab	df35e0a9d7
4:2831755 SH3BP2 C>T	4	2831755	2831755	C	T	SH3BP2	c.1206C>T	NM_001145855.2	NP_001139327.1:p.(Pro402=)	NC_000004.11:g.2831755C>T	(Likely) benign	1 lab	023429ae9d
14:102483804 DYNC1H1 C>T	14	102483804	102483804	C	T	DYNC1H1	c.8140C>T	NM_001376.5	NP_001367.2:p.(Pro2714Ser)	NC_000014.8:g.102483804C>T	VUS	1 lab	df37b1db3c
8:48691589 PRKDC A>C	8	48691589	48691589	A	C	PRKDC	c.11555T>G	NM_006904.6	NP_008835.5:p.(Val3852Gly)	NC_000008.10:g.48691589A>C	(Likely) benign	1 lab	02392bb24f
2:216248738 FN1 T>C	2	216248738	216248738	T	C	FN1	c.4894+5A>G	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216248738T>C	(Likely) benign	1 lab	023963dba7
3:14190057 XPC C>T	3	14190057	14190057	C	T	XPC	c.2420+5G>A	NM_004628.4	NP_004619.3:p.?	NC_000003.11:g.14190057C>T	VUS	1 lab	0239a8bdaf
22:36681988 MYH9 G>A	22	36681988	36681988	G	A	MYH9	c.5073C>T	NM_002473.5	NP_002464.1:p.(Ala1691=)	NC_000022.10:g.36681988G>A	(Likely) benign	1 lab	023a423841
X:135314302 MAP7D3 C>A	X	135314302	135314302	C	A	MAP7D3	c.709G>T	NM_001173517.1	NP_001166988.1:p.(Val237Phe)	NC_000023.10:g.135314302C>A	(Likely) benign	1 lab	023a7d8cc0
6:31691539 MPIG6B C>T	6	31691539	31691539	C	T	MPIG6B	c.185C>T	NM_138277.2	NP_612121.1:p.(Pro62Leu)	NC_000006.11:g.31691539C>T	VUS	1 lab	023a8a261d
9:26978157 IFT74 G>A	9	26978157	26978157	G	A	IFT74	c.152G>A	NM_001349928.1	NP_001336857.1:p.(Arg51His)	NC_000009.11:g.26978157G>A	VUS	1 lab	023e79b739
18:47390522 MYO5B C>T	18	47390522	47390522	C	T	MYO5B	c.3832G>A	NM_001080467.2	NP_001073936.1:p.(Gly1278Ser)	NC_000018.9:g.47390522C>T	(Likely) benign	1 lab	023f14f056
8:90965627 NBN C>T	8	90965627	90965627	C	T	NBN	c.1444G>A	NM_001024688.2	NP_001019859.1:p.(Glu482Lys)	NC_000008.10:g.90965627C>T	(Likely) benign	1 lab	023f37852e
15:62226526 VPS13C T>C	15	62226526	62226526	T	C	VPS13C	c.5760A>G	NM_001018088.2	NP_001018098.1:p.(Gln1920=)	NC_000015.9:g.62226526T>C	(Likely) benign	1 lab	02404d46ee
11:108139317 ATM A>C	11	108139317	108139317	A	C	ATM	c.2819A>C	NM_001351834.1	NP_001338763.1:p.(Lys940Thr)	NC_000011.9:g.108139317A>C	(Likely) benign	1 lab	0240c63724
14:74976011 LTBP2 C>T	14	74976011	74976011	C	T	LTBP2	c.3333G>A	NM_000428.2	NP_000419.1:p.(Thr1111=)	NC_000014.8:g.74976011C>T	(Likely) benign	1 lab	02414f0a79
7:2578915 BRAT1 G>A	7	2578915	2578915	G	A	BRAT1	c.1668C>T	NM_001350626.1	NP_001337555.1:p.(Asp556=)	NC_000007.13:g.2578915G>A	(Likely) benign	1 lab	02432f17dd
X:51637442 MAGED1 C>T	X	51637442	51637442	C	T	MAGED1	c.42C>T	NM_001005333.1	NP_001005333.1:p.(Phe14=)	NC_000023.10:g.51637442C>T	(Likely) benign	1 lab	02442d02b8
19:12766564 MAN2B1 C>T	19	12766564	12766564	C	T	MAN2B1	c.1774G>A	NM_000528.3	NP_000519.2:p.(Ala592Thr)	NC_000019.9:g.12766564C>T	(Likely) benign	1 lab	02451d101d
1:8390790 SLC45A1 C>T	1	8390790	8390790	C	T	SLC45A1	c.1339C>T	NM_001080397.2	NP_001073866.2:p.(Arg447Cys)	NC_000001.10:g.8390790C>T	VUS	1 lab	0255449109
1:39920726 MACF1 C>T	1	39920726	39920726	C	T	MACF1	c.14855C>T	NM_012090.5	NP_036222.3:p.(Pro4952Leu)	NC_000001.10:g.39920726C>T	(Likely) benign	1 lab	df38b295c0
2:179443443 TTN C>G	2	179443443	179443443	C	G	TTN	c.68225-1G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179443443C>G	(Likely) pathogenic	1 lab	df4057c9f8
X:19413327 MAP3K15 C>G	X	19413327	19413327	C	G	MAP3K15	c.2067-1G>C	NM_001001671.3	NP_001001671.3:p.?	NC_000023.10:g.19413327C>G	VUS	1 lab	024ac43ccc
16:57974143 CNGB1 C>T	16	57974143	57974143	C	T	CNGB1	c.1204G>A	NM_001297.4	NP_001288.3:p.(Asp402Asn)	NC_000016.9:g.57974143C>T	(Likely) benign	1 lab	024b5d08f2
7:97814392 LMTK2 C>G	7	97814392	97814392	C	G	LMTK2	c.821C>G	NM_014916.3	NP_055731.2:p.(Thr274Ser)	NC_000007.13:g.97814392C>G	VUS	1 lab	024bd88ea6
6:7571720 DSP T>C	6	7571720	7571720	T	C	DSP	c.1806T>C	NM_004415.2	NP_004406.2:p.(Asp602=)	NC_000006.11:g.7571720T>C	(Likely) benign	1 lab	024ccf2db4
12:125453114 DHX37 C>T	12	125453114	125453114	C	T	DHX37	c.1374G>A	NM_032656.4	NP_116045.2:p.(Arg458=)	NC_000012.11:g.125453114C>T	(Likely) benign	1 lab	024e7a05f6
6:79725344 PHIP C>A	6	79725344	79725344	C	A	PHIP	c.1389+3G>T	NM_017934.6	NP_060404.4:p.?	NC_000006.11:g.79725344C>A	VUS	1 lab	024edc8218
9:139413893 NOTCH1 G>T	9	139413893	139413893	G	T	NOTCH1	c.865+2C>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139413893G>T	(Likely) pathogenic	1 lab	df4a4f441d
17:57724877 CLTC G>A	17	57724877	57724877	G	A	CLTC	c.381G>A	NM_001288653.1	NP_001275582.1:p.(Thr127=)	NC_000017.10:g.57724877G>A	VUS	1 lab	0256660a92
19:48343143 CRX G>A	19	48343143	48343143	G	A	CRX	c.819G>A	NM_000554.5	NP_000545.1:p.(Thr273=)	NC_000019.9:g.48343143G>A	(Likely) benign	1 lab	02587a6000
1:172411433 PIGC C>A	1	172411433	172411433	C	A	PIGC	c.330G>T	NM_002642.3	NP_002633.1:p.(Lys110Asn)	NC_000001.10:g.172411433C>A	(Likely) benign	1 lab	025ad228ec
2:173420879 PDK1 A>C	2	173420879	173420879	A	C	PDK1	c.1A>C	NM_001278549.1	NP_001265478.1:p.(Met1?)	NC_000002.11:g.173420879A>C	VUS	1 lab	025bcc5ee7
18:28581601 DSC3 G>A	18	28581601	28581601	G	A	DSC3	c.2218C>T	NM_024423.4	NP_077741.2:p.(Pro740Ser)	NC_000018.9:g.28581601G>A	(Likely) benign	1 lab	df4d689089
X:49084707 CACNA1F C>T	X	49084707	49084707	C	T	CACNA1F	c.1014+6G>A	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49084707C>T	(Likely) benign	1 lab	025d794288
21:46913153 COL18A1 G>T	21	46913153	46913153	G	T	COL18A1	c.2277+14G>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46913153G>T	(Likely) benign	1 lab	025ee87326
12:125460011 DHX37 C>T	12	125460011	125460011	C	T	DHX37	c.934G>A	NM_032656.4	NP_116045.2:p.(Val312Met)	NC_000012.11:g.125460011C>T	VUS	1 lab	0260891b59
21:45950924 TSPEAR G>A	21	45950924	45950924	G	A	TSPEAR	c.429+2C>T	NM_001272037.1	NP_001258966.1:p.?	NC_000021.8:g.45950924G>A	(Likely) pathogenic	1 lab	0260a60522
7:117199522 CFTR C>G	7	117199522	117199522	C	G	CFTR	c.1397C>G	NM_000492.3	NP_000483.3:p.(Ser466Ter)	NC_000007.13:g.117199522C>G	(Likely) pathogenic	1 lab	0263ea58ef
14:96772059 ATG2B T>A	14	96772059	96772059	T	A	ATG2B	c.4600A>T	NM_018036.6	NP_060506.5:p.(Thr1534Ser)	NC_000014.8:g.96772059T>A	(Likely) benign	1 lab	0264456edc
6:44278832 AARS2 G>GC	6	44278832	44278834	G	GC	AARS2	c.647dup	NM_020745.3	NP_065796.1:p.(Cys218LeufsTer6)	NC_000006.11:g.44278834dup	(Likely) pathogenic	1 lab	02646fbf42
22:45937149 FBLN1 C>T	22	45937149	45937149	C	T	FBLN1	c.963C>T	NM_006486.3	NP_006477.3:p.(Ile321=)	NC_000022.10:g.45937149C>T	(Likely) benign	1 lab	df57a9de93
8:145541473 DGAT1 G>C	8	145541473	145541473	G	C	DGAT1	c.868C>G	NM_012079.5	NP_036211.2:p.(Gln290Glu)	NC_000008.10:g.145541473G>C	VUS	1 lab	0265448242
12:1953632 CACNA2D4 G>T	12	1953632	1953632	G	T	CACNA2D4	c.2406C>A	NM_172364.4	NP_758952.4:p.(Tyr802Ter)	NC_000012.11:g.1953632G>T	(Likely) pathogenic	1 lab	0265c0e56f
11:1275495 MUC5B C>T	11	1275495	1275495	C	T	MUC5B	c.15391C>T	NM_002458.2	NP_002449.2:p.(Arg5131Cys)	NC_000011.9:g.1275495C>T	VUS	1 lab	0267c08657
14:76368499 TTLL5 A>G	14	76368499	76368499	A	G	TTLL5	c.3755A>G	NM_015072.4	NP_055887.3:p.(Glu1252Gly)	NC_000014.8:g.76368499A>G	VUS	1 lab	0267e630d2
2:172330477 DCAF17 T>C	2	172330477	172330477	T	C	DCAF17	c.1083T>C	NM_025000.3	NP_079276.2:p.(Asn361=)	NC_000002.11:g.172330477T>C	(Likely) benign	1 lab	026866a4b5
16:81942162 PLCG2 G>A	16	81942162	81942162	G	A	PLCG2	c.1699G>A	NM_002661.5	NP_002652.2:p.(Glu567Lys)	NC_000016.9:g.81942162G>A	VUS	1 lab	df57b41182
X:49645426 USP27X G>A	X	49645426	49645426	G	A	USP27X	c.516G>A	NM_001145073.2	NP_001138545.1:p.(Ala172=)	NC_000023.10:g.49645426G>A	(Likely) benign	1 lab	02693cf1c1
6:152686001 SYNE1 C>A	6	152686001	152686001	C	A	SYNE1	c.10126G>T	NM_182961.3	NP_892006.3:p.(Ala3376Ser)	NC_000006.11:g.152686001C>A	(Likely) benign	1 lab	026a3ed5be
1:198725205 PTPRC T>A	1	198725205	198725205	T	A	PTPRC	c.3816T>A	NM_002838.4	NP_002829.3:p.(Pro1272=)	NC_000001.10:g.198725205T>A	(Likely) benign	1 lab	026a7b4386
16:22142563 VWA3A G>C	16	22142563	22142563	G	C	VWA3A	c.1690G>C	NM_173615.4	NP_775886.3:p.(Val564Leu)	NC_000016.9:g.22142563G>C	VUS	1 lab	026b7a5aae
X:135080638 SLC9A6 C>T	X	135080638	135080638	C	T	SLC9A6	c.604-3C>T	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135080638C>T	(Likely) benign	1 lab	026c7b3d44
X:153694726 PLXNA3 C>T	X	153694726	153694726	C	T	PLXNA3	c.2807C>T	NM_017514.4	NP_059984.3:p.(Thr936Met)	NC_000023.10:g.153694726C>T	(Likely) benign	1 lab	026e3724c1
17:29654788 NF1 C>T	17	29654788	29654788	C	T	NF1	c.5477C>T	NM_000267.3	NP_000258.1:p.(Pro1826Leu)	NC_000017.10:g.29654788C>T	VUS	1 lab	027060d02f
1:9783258 PIK3CD C>T	1	9783258	9783258	C	T	PIK3CD	c.2502C>T	NM_005026.3	NP_005017.3:p.(Ile834=)	NC_000001.10:g.9783258C>T	(Likely) benign	1 lab	02710cbb44
7:100641145 MUC12 G>A	7	100641145	100641145	G	A	MUC12	c.7301G>A	NM_001164462.1	NP_001157934.1:p.(Arg2434Gln)	NC_000007.13:g.100641145G>A	(Likely) benign	1 lab	0273e2e8c0
11:118960690 HMBS C>T	11	118960690	118960690	C	T	HMBS	c.345-10C>T	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118960690C>T	(Likely) benign	1 lab	02741360c3
10:85967924 CDHR1 T>A	10	85967924	85967924	T	A	CDHR1	c.964-6T>A	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85967924T>A	(Likely) benign	1 lab	02745b0abd
5:40959546 C7 TG>T	5	40959546	40959547	TG	T	C7	c.1490-4del	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40959547del	(Likely) pathogenic	1 lab	0274def359
1:12941974 PRAMEF4 C>T	1	12941974	12941974	C	T	PRAMEF4	c.576G>A	NM_001009611.4	NP_001009611.2:p.(Met192Ile)	NC_000001.10:g.12941974C>T	(Likely) benign	1 lab	0277adb61e
18:12329536 AFG3L2 C>G	18	12329536	12329536	C	G	AFG3L2	c.*28G>C	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12329536C>G	(Likely) benign	1 lab	0277ce857a
13:32911812 BRCA2 A>C	13	32911812	32911812	A	C	BRCA2	c.3320A>C	NM_000059.3	NP_000050.2:p.(Gln1107Pro)	NC_000013.10:g.32911812A>C	VUS	1 lab	0277f981e1
X:153592437 FLNA C>T	X	153592437	153592437	C	T	FLNA	c.2233G>A	NM_001110556.2	NP_001104026.1:p.(Ala745Thr)	NC_000023.10:g.153592437C>T	VUS	1 lab	02781a4373
20:34025210 GDF5 TG>T	20	34025210	34025216	TG	T	GDF5	c.498del	NM_000557.5	NP_000548.2:p.(Ile167SerfsTer26)	NC_000020.10:g.34025216del	(Likely) pathogenic	1 lab	02784b9c79
18:55399026 ATP8B1 C>T	18	55399026	55399026	C	T	ATP8B1	c.14G>A	NM_005603.6	NP_005594.2:p.(Arg5Lys)	NC_000018.9:g.55399026C>T	(Likely) benign	1 lab	027885c565
15:25585354 UBE3A A>G	15	25585354	25585354	A	G	UBE3A	c.2385T>C	NM_000462.5	NP_000453.2:p.(His795=)	NC_000015.9:g.25585354A>G	(Likely) benign	1 lab	02793d3c8f
13:111125287 COL4A2 C>T	13	111125287	111125287	C	T	COL4A2	c.2215C>T	NM_001846.4	NP_001837.2:p.(Pro739Ser)	NC_000013.10:g.111125287C>T	VUS	1 lab	df58728ff6
X:107681211 COL4A6 G>C	X	107681211	107681211	G	C	COL4A6	c.24C>G	NM_001287758.1	NP_001274687.1:p.(Leu8=)	NC_000023.10:g.107681211G>C	(Likely) benign	1 lab	027a90deb4
X:153694819 PLXNA3 C>G	X	153694819	153694819	C	G	PLXNA3	c.2900C>G	NM_017514.4	NP_059984.3:p.(Thr967Arg)	NC_000023.10:g.153694819C>G	(Likely) benign	1 lab	027aee92cd
1:198704279 PTPRC G>A	1	198704279	198704279	G	A	PTPRC	c.2301G>A	NM_002838.4	NP_002829.3:p.(Pro767=)	NC_000001.10:g.198704279G>A	(Likely) benign	1 lab	027b36b702
5:73153598 ARHGEF28 A>G	5	73153598	73153598	A	G	ARHGEF28	c.1908A>G	NM_001080479.2	NP_001073948.2:p.(Lys636=)	NC_000005.9:g.73153598A>G	(Likely) benign	1 lab	027cecfce5
2:179718287 CCDC141 C>A	2	179718287	179718287	C	A	CCDC141	c.3125G>T	NM_173648.3	NP_775919.3:p.(Cys1042Phe)	NC_000002.11:g.179718287C>A	VUS	1 lab	027d41226d
16:3900452 CREBBP G>T	16	3900452	3900452	G	T	CREBBP	c.644C>A	NM_004380.3	NP_004371.2:p.(Ala215Asp)	NC_000016.9:g.3900452G>T	VUS	1 lab	df595a93cb
X:135763020 ARHGEF6 C>G	X	135763020	135763020	C	G	ARHGEF6	c.1574G>C	NM_004840.2	NP_004831.1:p.(Arg525Thr)	NC_000023.10:g.135763020C>G	VUS	1 lab	027eb4248d
12:106770137 POLR3B A>G	12	106770137	106770137	A	G	POLR3B	c.405A>G	NM_018082.6	NP_060552.4:p.(Arg135=)	NC_000012.11:g.106770137A>G	(Likely) benign	1 lab	df5a500ca5
2:209168945 PIKFYVE C>T	2	209168945	209168945	C	T	PIKFYVE	c.1371C>T	NM_015040.3	NP_055855.2:p.(Ser457=)	NC_000002.11:g.209168945C>T	(Likely) benign	1 lab	027fff0adf
1:47882417 FOXE3 T>C	1	47882417	47882417	T	C	FOXE3	c.430T>C	NM_012186.2	NP_036318.1:p.(Tyr144His)	NC_000001.10:g.47882417T>C	VUS	1 lab	02801aa9e0
7:26235536 HNRNPA2B1 G>A	7	26235536	26235536	G	A	HNRNPA2B1	c.695-7C>T	NM_031243.2	NP_112533.1:p.?	NC_000007.13:g.26235536G>A	(Likely) benign	1 lab	02827b4e23
16:3021165 PAQR4 C>T	16	3021165	3021165	C	T	PAQR4	c.174C>T	NM_152341.4	NP_689554.2:p.(Ala58=)	NC_000016.9:g.3021165C>T	(Likely) benign	1 lab	0282867284
1:197115433 ASPM G>A	1	197115433	197115433	G	A	ASPM	c.135C>T	NM_018136.4	NP_060606.3:p.(Cys45=)	NC_000001.10:g.197115433G>A	(Likely) benign	1 lab	0284a5821f
5:156522370 HAVCR2 C>G	5	156522370	156522370	C	G	HAVCR2	c.623G>C	NM_032782.4	NP_116171.3:p.(Gly208Ala)	NC_000005.9:g.156522370C>G	(Likely) benign	1 lab	02866270b5
20:62371317 SLC2A4RG G>A	20	62371317	62371317	G	A	SLC2A4RG	c.52G>A	NM_020062.3	NP_064446.2:p.(Ala18Thr)	NC_000020.10:g.62371317G>A	(Likely) benign	1 lab	02870367f5
10:135101769 TUBGCP2 A>G	10	135101769	135101769	A	G	TUBGCP2	c.1670T>C	NM_001256617.1	NP_001243546.1:p.(Val557Ala)	NC_000010.10:g.135101769A>G	(Likely) benign	1 lab	0288429a45
1:220101499 SLC30A10 G>A	1	220101499	220101499	G	A	SLC30A10	c.284C>T	NM_018713.2	NP_061183.2:p.(Thr95Ile)	NC_000001.10:g.220101499G>A	VUS	1 lab	0289105f09
14:23855822 MYH6 T>A	14	23855822	23855822	T	A	MYH6	c.4661A>T	NM_002471.3	NP_002462.2:p.(Glu1554Val)	NC_000014.8:g.23855822T>A	VUS	1 lab	02898648fa
X:128696582 OCRL A>G	X	128696582	128696582	A	G	OCRL	c.1063A>G	NM_000276.3	NP_000267.2:p.(Lys355Glu)	NC_000023.10:g.128696582A>G	VUS	1 lab	028a80c061
17:34894360 PIGW C>T	17	34894360	34894360	C	T	PIGW	c.1410C>T	NM_178517.4	NP_848612.2:p.(His470=)	NC_000017.10:g.34894360C>T	(Likely) benign	1 lab	028b1bc471
17:76130475 TMC8 G>A	17	76130475	76130475	G	A	TMC8	c.817G>A	NM_152468.4	NP_689681.2:p.(Val273Met)	NC_000017.10:g.76130475G>A	(Likely) benign	1 lab	028b24f6c7
16:89611140 SPG7 G>T	16	89611140	89611140	G	T	SPG7	c.1409G>T	NM_003119.3	NP_003110.1:p.(Arg470Leu)	NC_000016.9:g.89611140G>T	VUS	1 lab	028e031956
19:9064226 MUC16 G>T	19	9064226	9064226	G	T	MUC16	c.23220C>A	NM_024690.2	NP_078966.2:p.(Thr7740=)	NC_000019.9:g.9064226G>T	(Likely) benign	1 lab	028e625647
12:117693822 NOS1 A>C	12	117693822	117693822	A	C	NOS1	c.2552T>G	NM_001204218.1	NP_001191147.1:p.(Phe851Cys)	NC_000012.11:g.117693822A>C	VUS	1 lab	028ea9a6dd
11:66617187 PC G>A	11	66617187	66617187	G	A	PC	c.3042C>T	NM_001040716.1	NP_001035806.1:p.(Pro1014=)	NC_000011.9:g.66617187G>A	(Likely) benign	1 lab	028ed6e6ec
9:2718349 KCNV2 G>A	9	2718349	2718349	G	A	KCNV2	c.610G>A	NM_133497.3	NP_598004.1:p.(Glu204Lys)	NC_000009.11:g.2718349G>A	VUS	1 lab	028ee45175
3:42261076 TRAK1 G>A	3	42261076	42261076	G	A	TRAK1	c.2054G>A	NM_001042646.3	NP_001036111.1:p.(Arg685Gln)	NC_000003.11:g.42261076G>A	VUS	1 lab	028f3c3252
10:112590880 RBM20 G>A	10	112590880	112590880	G	A	RBM20	c.3513G>A	NM_001134363.1	NP_001127835.1:p.(Thr1171=)	NC_000010.10:g.112590880G>A	(Likely) benign	1 lab	028fa5d52a
9:100437872 XPA G>GA	9	100437872	100437881	G	GA	XPA	c.548-4dup	NM_001354975.1	NP_001341904.1:p.?	NC_000009.11:g.100437881dup	(Likely) benign	1 lab	028fea36a1
11:124742871 ROBO3 GACTGGGAACCCTCA>G	11	124742871	124742887	GACTGGGAACCCTCA	G	ROBO3	c.1425_1438del	NM_022370.4	NP_071765.2:p.(Gly476GlnfsTer15)	NC_000011.9:g.124742874_124742887del	(Likely) pathogenic	1 lab	0290255466
15:51057655 SPPL2A G>A	15	51057655	51057655	G	A	SPPL2A	c.66+10C>T	NM_032802.4	NP_116191.2:p.?	NC_000015.9:g.51057655G>A	(Likely) benign	1 lab	02904d1dfb
X:70148407 SLC7A3 C>T	X	70148407	70148407	C	T	SLC7A3	c.606G>A	NM_032803.5	NP_116192.4:p.(Gly202=)	NC_000023.10:g.70148407C>T	(Likely) benign	1 lab	0290b808e2
22:18910412 PRODH C>A	22	18910412	18910412	C	A	PRODH	c.767G>T	NM_016335.4	NP_057419.4:p.(Cys256Phe)	NC_000022.10:g.18910412C>A	VUS	1 lab	0290c73387
4:44688630 GUF1 G>C	4	44688630	44688630	G	C	GUF1	c.838G>C	NM_021927.2	NP_068746.2:p.(Val280Leu)	NC_000004.11:g.44688630G>C	(Likely) benign	1 lab	029190a6fb
19:52942423 ZNF534 T>A	19	52942423	52942423	T	A	ZNF534	c.1749T>A	NM_001143939.2	NP_001137411.1:p.(Asn583Lys)	NC_000019.9:g.52942423T>A	(Likely) benign	1 lab	0292aca43a
6:111636474 REV3L T>A	6	111636474	111636474	T	A	REV3L	c.8462A>T	NM_002912.5	NP_002903.3:p.(Glu2821Val)	NC_000006.11:g.111636474T>A	VUS	1 lab	df5b11ff9c
22:24129385 SMARCB1 TC>T	22	24129385	24129386	TC	T	SMARCB1	c.30del	NM_003073.5	NP_003064.2:p.(Phe10LeufsTer6)	NC_000022.10:g.24129386del	(Likely) pathogenic	1 lab	0294086ec3
10:118893846 VAX1 G>A	10	118893846	118893846	G	A	VAX1	c.678C>T	NM_001112704.1	NP_001106175.1:p.(Ala226=)	NC_000010.10:g.118893846G>A	(Likely) benign	1 lab	0295464045
16:89882404 FANCA G>C	16	89882404	89882404	G	C	FANCA	c.80-10C>G	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89882404G>C	(Likely) benign	1 lab	0296927148
1:22446821 WNT4 C>T	1	22446821	22446821	C	T	WNT4	c.778G>A	NM_030761.4	NP_110388.2:p.(Ala260Thr)	NC_000001.10:g.22446821C>T	(Likely) benign	1 lab	02983825ab
17:73515117 TSEN54 A>T	17	73515117	73515117	A	T	TSEN54	c.510A>T	NM_207346.2	NP_997229.2:p.(Arg170=)	NC_000017.10:g.73515117A>T	(Likely) benign	1 lab	02984974e1
12:56574834 SMARCC2 T>C	12	56574834	56574834	T	C	SMARCC2	c.1008A>G	NM_001330288.2	NP_001317217.1:p.(Gln336=)	NC_000012.11:g.56574834T>C	(Likely) benign	1 lab	029ab2a557
16:67517277 AGRP A>G	16	67517277	67517277	A	G	AGRP	c.25T>C	NM_001138.1	NP_001129.1:p.(Cys9Arg)	NC_000016.9:g.67517277A>G	VUS	1 lab	029ad77a0f
7:42005137 GLI3 C>G	7	42005137	42005137	C	G	GLI3	c.3534G>C	NM_000168.5	NP_000159.3:p.(Lys1178Asn)	NC_000007.13:g.42005137C>G	VUS	1 lab	029b0c388d
8:145739845 RECQL4 C>T	8	145739845	145739845	C	T	RECQL4	c.1685G>A	NM_004260.3	NP_004251.3:p.(Arg562Gln)	NC_000008.10:g.145739845C>T	VUS	1 lab	029b5c1c02
9:135102315 NTNG2 G>A	9	135102315	135102315	G	A	NTNG2	c.937G>A	NM_032536.4	NP_115925.2:p.(Gly313Ser)	NC_000009.11:g.135102315G>A	VUS	1 lab	df5cbde35d
2:152527608 NEB C>T	2	152527608	152527608	C	T	NEB	c.4435G>A	NM_001271208.2	NP_001258137.2:p.(Val1479Ile)	NC_000002.11:g.152527608C>T	(Likely) benign	1 lab	df5f4d31f3
1:216243490 USH2A C>T	1	216243490	216243490	C	T	USH2A	c.6002G>A	NM_206933.2	NP_996816.2:p.(Arg2001His)	NC_000001.10:g.216243490C>T	VUS	1 lab	029ce43b16
16:88505412 ZNF469 C>A	16	88505412	88505412	C	A	ZNF469				NC_000016.9:g.88505412C>A	VUS	1 lab	029d3e5bb1
2:73635768 ALMS1 C>T	2	73635768	73635768	C	T	ALMS1	c.346C>T	NM_015120.4	NP_055935.4:p.(His116Tyr)	NC_000002.11:g.73635768C>T	(Likely) benign	1 lab	029d9728f9
17:7814186 CHD3 G>T	17	7814186	7814186	G	T	CHD3	c.5953G>T	NM_001005271.3	NP_001005271.2:p.(Ala1985Ser)	NC_000017.10:g.7814186G>T	VUS	1 lab	df5f5ebf2e
5:178416388 GRM6 A>G	5	178416388	178416388	A	G	GRM6	c.1031T>C	NM_000843.4	NP_000834.2:p.(Met344Thr)	NC_000005.9:g.178416388A>G	VUS	1 lab	02a03a85cc
19:49102445 SULT2B1 G>C	19	49102445	49102445	G	C	SULT2B1	c.835G>C	NM_004605.2	NP_004596.2:p.(Asp279His)	NC_000019.9:g.49102445G>C	VUS	1 lab	02a0a171e3
2:234231636 SAG A>G	2	234231636	234231636	A	G	SAG	c.420A>G	NM_000541.4	NP_000532.2:p.(Pro140=)	NC_000002.11:g.234231636A>G	(Likely) benign	1 lab	02a1379d04
22:38120797 TRIOBP G>A	22	38120797	38120797	G	A	TRIOBP	c.2234G>A	NM_001039141.2	NP_001034230.1:p.(Arg745Lys)	NC_000022.10:g.38120797G>A	(Likely) benign	1 lab	02a198aa38
16:1034726 SOX8 G>C	16	1034726	1034726	G	C	SOX8	c.681G>C	NM_014587.4	NP_055402.2:p.(Pro227=)	NC_000016.9:g.1034726G>C	(Likely) benign	1 lab	02a1d927e4
12:6061578 VWF T>C	12	6061578	6061578	T	C	VWF	c.8094A>G	NM_000552.3	NP_000543.2:p.(Glu2698=)	NC_000012.11:g.6061578T>C	(Likely) benign	1 lab	02a33876a2
16:84067032 SLC38A8 G>A	16	84067032	84067032	G	A	SLC38A8	c.431C>T	NM_001080442.2	NP_001073911.1:p.(Pro144Leu)	NC_000016.9:g.84067032G>A	VUS	1 lab	02a930f7b6
19:13373565 CACNA1A G>A	19	13373565	13373565	G	A	CACNA1A	c.4084C>T	NM_023035.3	NP_075461.2:p.(Arg1362Trp)	NC_000019.9:g.13373565G>A	(Likely) pathogenic	1 lab	df67388675
21:46888545 COL18A1 G>A	21	46888545	46888545	G	A	COL18A1	c.1741G>A	NM_130444.3	NP_569711.2:p.(Ala581Thr)	NC_000021.8:g.46888545G>A	(Likely) benign	1 lab	02aa6a61c0
2:72374936 CYP26B1 A>T	2	72374936	72374936	A	T	CYP26B1	c.28T>A	NM_019885.3	NP_063938.1:p.(Ser10Thr)	NC_000002.11:g.72374936A>T	VUS	1 lab	02ab8f2bfa
6:112438912 LAMA4 GA>G	6	112438912	112438913	GA	G	LAMA4	c.4981+29del	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112438913del	(Likely) benign	1 lab	02acb96df2
20:47567915 ARFGEF2 G>A	20	47567915	47567915	G	A	ARFGEF2	c.332G>A	NM_006420.2	NP_006411.2:p.(Gly111Glu)	NC_000020.10:g.47567915G>A	VUS	1 lab	02ad2f0a83
15:89834857 FANCI A>G	15	89834857	89834857	A	G	FANCI	c.1904A>G	NM_001113378.1	NP_001106849.1:p.(Tyr635Cys)	NC_000015.9:g.89834857A>G	VUS	1 lab	02ae4d276f
1:40537155 CAP1 C>A	1	40537155	40537155	C	A	CAP1	c.1378C>A	NM_006367.3	NP_006358.1:p.(Leu460Ile)	NC_000001.10:g.40537155C>A	(Likely) benign	1 lab	02af2f0627
1:156105680 LMNA A>C	1	156105680	156105680	A	C	LMNA				NC_000001.10:g.156105680A>C	(Likely) benign	1 lab	02af43cc83
17:29652877 NF1 C>A	17	29652877	29652877	C	A	NF1	c.4812C>A	NM_000267.3	NP_000258.1:p.(Tyr1604Ter)	NC_000017.10:g.29652877C>A	(Likely) pathogenic	1 lab	02af9400c8
19:48342921 CRX C>T	19	48342921	48342921	C	T	CRX	c.597C>T	NM_000554.5	NP_000545.1:p.(Ser199=)	NC_000019.9:g.48342921C>T	(Likely) benign	1 lab	02afad29da
20:31393220 DNMT3B C>T	20	31393220	31393220	C	T	DNMT3B	c.2301+7C>T	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31393220C>T	(Likely) benign	1 lab	02b05634b8
16:2129161 TSC2 G>C	16	2129161	2129161	G	C	TSC2	c.3095G>C	NM_000548.3	NP_000539.2:p.(Arg1032Pro)	NC_000016.9:g.2129161G>C	(Likely) pathogenic	1 lab	02b2cc69b9
16:75589979 TMEM231 G>A	16	75589979	75589979	G	A	TMEM231	c.191C>T	NM_001077416.2	NP_001070884.2:p.(Ser64Phe)	NC_000016.9:g.75589979G>A	VUS	1 lab	02b3737b44
19:12502692 ZNF799 A>G	19	12502692	12502692	A	G	ZNF799	c.424T>C	NM_001322497.1	NP_001309426.1:p.(Cys142Arg)	NC_000019.9:g.12502692A>G	VUS	1 lab	02b5656a90
17:78195427 SLC26A11 G>A	17	78195427	78195427	G	A	SLC26A11	c.68G>A	NM_001166347.2	NP_001159819.1:p.(Cys23Tyr)	NC_000017.10:g.78195427G>A	VUS	1 lab	02b5f697a2
1:19168243 TAS1R2 G>A	1	19168243	19168243	G	A	TAS1R2	c.1571C>T	NM_152232.2	NP_689418.2:p.(Thr524Ile)	NC_000001.10:g.19168243G>A	VUS	1 lab	02b6d3e2aa
5:94865825 SKIC3 T>C	5	94865825	94865825	T	C	SKIC3	c.860A>G	NM_014639.3	NP_055454.1:p.(Lys287Arg)	NC_000005.9:g.94865825T>C	VUS	1 lab	02b6d5a0d9
9:114312053 PTGR1 T>A	9	114312053	114312053	T	A	PTGR1	c.906A>T	NM_001146109.1	NP_001139581.1:p.(Ter302CysextTer7)	NC_000009.11:g.114312053T>A	VUS	1 lab	02b79ec632
15:65319365 MTFMT CTTCT>C	15	65319365	65319371	CTTCT	C	MTFMT	c.219_222del	NM_139242.4	NP_640335.2:p.(Glu74LysfsTer3)	NC_000015.9:g.65319368_65319371del	(Likely) pathogenic	1 lab	02b8cd47de
14:105414112 AHNAK2 C>A	14	105414112	105414112	C	A	AHNAK2	c.7676G>T	NM_138420.3	NP_612429.2:p.(Gly2559Val)	NC_000014.8:g.105414112C>A	VUS	1 lab	02ba3d83ae
18:6966262 LAMA1 C>T	18	6966262	6966262	C	T	LAMA1	c.6934G>A	NM_005559.3	NP_005550.2:p.(Gly2312Arg)	NC_000018.9:g.6966262C>T	VUS	1 lab	02ba7851de
10:129902936 MKI67 G>A	10	129902936	129902936	G	A	MKI67	c.7168C>T	NM_002417.4	NP_002408.3:p.(Pro2390Ser)	NC_000010.10:g.129902936G>A	(Likely) benign	1 lab	02bb2231b1
9:14863857 FREM1 G>A	9	14863857	14863857	G	A	FREM1	c.279C>T	NM_144966.5	NP_659403.4:p.(His93=)	NC_000009.11:g.14863857G>A	(Likely) benign	1 lab	02bc9c1993
17:36491531 GPR179 C>T	17	36491531	36491531	C	T	GPR179	c.1349G>A	NM_001004334.3	NP_001004334.3:p.(Trp450Ter)	NC_000017.10:g.36491531C>T	(Likely) pathogenic	1 lab	02bf403509
17:29546115 NF1 GATTGCTCAGGA>G	17	29546115	29546127	GATTGCTCAGGA	G	NF1	c.1622_1632del	NM_001042492.3	NP_001035957.1:p.(Ile541SerfsTer13)	NC_000017.10:g.29546117_29546127del	(Likely) pathogenic	1 lab	02bfe75562
3:139062884 MRPS22 A>G	3	139062884	139062884	A	G	MRPS22	c.16A>G	NM_020191.3	NP_064576.1:p.(Thr6Ala)	NC_000003.11:g.139062884A>G	(Likely) benign	1 lab	02c108a00b
1:110152693 GNAT2 A>G	1	110152693	110152693	A	G	GNAT2	c.272T>C	NM_005272.3	NP_005263.1:p.(Leu91Pro)	NC_000001.10:g.110152693A>G	VUS	1 lab	02c11ce4c4
11:64503430 RASGRP2 G>A	11	64503430	64503430	G	A	RASGRP2	c.1118C>T	NM_153819.1	NP_722541.1:p.(Thr373Met)	NC_000011.9:g.64503430G>A	VUS	1 lab	02c25f31d8
2:1891311 MYT1L CT>C	2	1891311	1891313	CT	C	MYT1L	c.2590del	NM_001329851.3	NP_001316780.1:p.(Ser864ValfsTer16)	NC_000002.11:g.1891313del	(Likely) pathogenic	1 lab	df6dd53f35
19:1388867 NDUFS7 C>T	19	1388867	1388867	C	T	NDUFS7	c.158C>T	NM_001363602.1	NP_001350531.1:p.(Ala53Val)	NC_000019.9:g.1388867C>T	(Likely) benign	1 lab	02c493e0a2
10:55570398 PCDH15 C>T	10	55570398	55570398	C	T	PCDH15				NC_000010.10:g.55570398C>T	VUS	1 lab	02c5344e22
13:47243203 LRCH1 G>T	13	47243203	47243203	G	T	LRCH1	c.491G>T	NM_001164211.2	NP_001157683.2:p.(Gly164Val)	NC_000013.10:g.47243203G>T	VUS	1 lab	02c5b48562
X:147030346 FMR1 C>T	X	147030346	147030346	C	T	FMR1	c.1610C>T	NM_001185075.1	NP_001172004.1:p.(Ser537Leu)	NC_000023.10:g.147030346C>T	VUS	1 lab	02c772969f
19:1622409 TCF3 G>C	19	1622409	1622409	G	C	TCF3	c.555C>G	NM_003200.5	NP_003191.1:p.(Tyr185Ter)	NC_000019.9:g.1622409G>C	VUS	1 lab	02c7771065
22:30685486 CASTOR1 T>C	22	30685486	30685486	T	C	CASTOR1	c.1A>G	NM_001037666.2	NP_001032755.1:p.(Met1?)	NC_000022.10:g.30685486T>C	VUS	1 lab	02c78d0da4
9:133577570 EXOSC2 A>C	9	133577570	133577570	A	C	EXOSC2	c.545A>C	NM_014285.7	NP_055100.2:p.(Gln182Pro)	NC_000009.11:g.133577570A>C	VUS	1 lab	02cc56ba34
5:74807112 CERT1 G>A	5	74807112	74807112	G	A	CERT1	c.305C>T	NM_001130105.1	NP_001123577.1:p.(Pro102Leu)	NC_000005.9:g.74807112G>A	(Likely) benign	1 lab	02cccba2c4
5:131726525 SLC22A5 G>A	5	131726525	131726525	G	A	SLC22A5	c.1196G>A	NM_003060.4	NP_003051.1:p.(Arg399Gln)	NC_000005.9:g.131726525G>A	(Likely) pathogenic	1 lab	df7150dc35
9:2643350 VLDLR C>T	9	2643350	2643350	C	T	VLDLR	c.639C>T	NM_003383.4	NP_003374.3:p.(Asp213=)	NC_000009.11:g.2643350C>T	(Likely) benign	1 lab	02d0a70d83
15:42984712 STARD9 G>A	15	42984712	42984712	G	A	STARD9	c.10936G>A	NM_020759.3	NP_065810.2:p.(Gly3646Ser)	NC_000015.9:g.42984712G>A	(Likely) benign	1 lab	02d5710abe
19:54310747 NLRP12 A>G	19	54310747	54310747	A	G	NLRP12	c.2246+2T>C	NM_001277126.1	NP_001264055.1:p.?	NC_000019.9:g.54310747A>G	VUS	1 lab	02d72e79ed
3:4704907 ITPR1 G>A	3	4704907	4704907	G	A	ITPR1	c.1554+17G>A	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4704907G>A	(Likely) benign	1 lab	02d849fe0c
3:142257306 ATR T>C	3	142257306	142257306	T	C	ATR	c.3725+18A>G	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142257306T>C	(Likely) benign	1 lab	02da1700e0
6:152740765 SYNE1 T>C	6	152740765	152740765	T	C	SYNE1	c.5360A>G	NM_182961.3	NP_892006.3:p.(Glu1787Gly)	NC_000006.11:g.152740765T>C	(Likely) benign	1 lab	02da29dc66
11:117052540 SIDT2 T>G	11	117052540	117052540	T	G	SIDT2	c.323T>G	NM_001040455.1	NP_001035545.1:p.(Leu108Arg)	NC_000011.9:g.117052540T>G	(Likely) benign	1 lab	02dbfe1ff4
X:53631722 HUWE1 G>A	X	53631722	53631722	G	A	HUWE1	c.2570C>T	NM_031407.6	NP_113584.3:p.(Pro857Leu)	NC_000023.10:g.53631722G>A	VUS	1 lab	02ddd811db
5:176694479 NSD1 A>AAT	5	176694479	176694493	A	AAT	NSD1	c.5147-71_5147-70dup	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176694492_176694493dup	(Likely) benign	1 lab	02df07e374
X:47101905 USP11 G>A	X	47101905	47101905	G	A	USP11	c.1601G>A	NM_004651.3	NP_004642.2:p.(Gly534Asp)	NC_000023.10:g.47101905G>A	VUS	1 lab	02df91ea29
12:80889130 MISSING A>G	12	80889130	80889130	A	G	MISSING				NC_000012.11:g.80889130A>G	VUS	1 lab	02dfe1003d
X:38271206 OTC G>A	X	38271206	38271206	G	A	OTC	c.959G>A	NM_000531.5	NP_000522.3:p.(Arg320Gln)	NC_000023.10:g.38271206G>A	(Likely) benign	1 lab	02e0204037
X:8433895 VCX3B C>T	X	8433895	8433895	C	T	VCX3B	c.212C>T	NM_001001888.3	NP_001001888.3:p.(Pro71Leu)	NC_000023.10:g.8433895C>T	VUS	1 lab	02e4273ae5
19:7703623 STXBP2 G>A	19	7703623	7703623	G	A	STXBP2	c.49G>A	NM_001272034.1	NP_001258963.1:p.(Gly17Arg)	NC_000019.9:g.7703623G>A	VUS	1 lab	02e6fb4076
9:137591844 COL5A1 C>G	9	137591844	137591844	C	G	COL5A1	c.367C>G	NM_000093.4	NP_000084.3:p.(Gln123Glu)	NC_000009.11:g.137591844C>G	VUS	1 lab	02e7f8e58c
16:1411934 GNPTG A>G	16	1411934	1411934	A	G	GNPTG	c.295A>G	NM_032520.4	NP_115909.1:p.(Asn99Asp)	NC_000016.9:g.1411934A>G	VUS	1 lab	0809ae9923
4:57891543 POLR2B G>C	4	57891543	57891543	G	C	POLR2B	c.3058G>C	NM_001303269.1	NP_001290198.1:p.(Val1020Leu)	NC_000004.11:g.57891543G>C	VUS	1 lab	02e8959c2c
10:94413532 KIF11 G>C	10	94413532	94413532	G	C	KIF11	c.3150G>C	NM_004523.3	NP_004514.2:p.(Leu1050=)	NC_000010.10:g.94413532G>C	(Likely) benign	1 lab	02eb66d742
X:151143066 GABRE C>A	X	151143066	151143066	C	A	GABRE	c.32G>T	NM_004961.3	NP_004952.2:p.(Gly11Val)	NC_000023.10:g.151143066C>A	(Likely) benign	1 lab	02ebd59984
2:202352363 CATSPERT C>T	2	202352363	202352363	C	T	CATSPERT	c.5435G>A	NM_001168221.1	NP_001161693.1:p.(Arg1812Gln)	NC_000002.11:g.202352363C>T	(Likely) benign	1 lab	02ee6f956d
12:116410044 MED13L G>A	12	116410044	116410044	G	A	MED13L	c.5732-3C>T	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116410044G>A	(Likely) benign	1 lab	02ef053f22
2:203149103 NOP58 T>C	2	203149103	203149103	T	C	NOP58	c.333T>C	NM_015934.5	NP_057018.1:p.(Val111=)	NC_000002.11:g.203149103T>C	(Likely) benign	1 lab	02f091c085
6:116953612 RSPH4A A>G	6	116953612	116953612	A	G	RSPH4A	c.*8A>G	NM_001010892.2	NP_001010892.1:p.?	NC_000006.11:g.116953612A>G	(Likely) benign	1 lab	02f25afed0
11:608454 PHRF1 C>T	11	608454	608454	C	T	PHRF1	c.2995C>T	NM_020901.3	NP_065952.2:p.(Arg999Cys)	NC_000011.9:g.608454C>T	VUS	1 lab	094c390839
X:39916407 BCOR C>A	X	39916407	39916407	C	A	BCOR	c.4595+1G>T	NM_001123385.1	NP_001116857.1:p.?	NC_000023.10:g.39916407C>A	(Likely) pathogenic	1 lab	02f33b2d54
11:6414909 SMPD1 C>T	11	6414909	6414909	C	T	SMPD1	c.405C>T	NM_001318088.1	NP_001305017.1:p.(Tyr135=)	NC_000011.9:g.6414909C>T	(Likely) benign	1 lab	02f6ae2dff
12:49445310 KMT2D G>A	12	49445310	49445310	G	A	KMT2D	c.2156C>T	NM_003482.3	NP_003473.3:p.(Pro719Leu)	NC_000012.11:g.49445310G>A	(Likely) benign	1 lab	02f7db5413
19:12016127 ZNF69 A>G	19	12016127	12016127	A	G	ZNF69	c.490+425A>G	NM_001321163.1	NP_001308092.1:p.?	NC_000019.9:g.12016127A>G	(Likely) benign	1 lab	02f98ab35d
9:27573522 C9orf72 G>GC	9	27573522	27573526	G	GC	C9orf72	c.-45+184dup	NM_001256054.1	NP_001242983.1:p.?	NC_000009.11:g.27573526dup	(Likely) benign	1 lab	02f9c83e67
4:126412038 FAT4 A>C	4	126412038	126412038	A	C	FAT4	c.14067A>C	NM_001291303.1	NP_001278232.1:p.(Leu4689=)	NC_000004.11:g.126412038A>C	(Likely) benign	1 lab	02fc65985d
X:119760878 C1GALT1C1 G>A	X	119760878	119760878	G	A	C1GALT1C1	c.144C>T	NM_152692.4	NP_689905.1:p.(Asn48=)	NC_000023.10:g.119760878G>A	(Likely) benign	1 lab	02fcb52cd1
15:44862705 SPG11 G>A	15	44862705	44862705	G	A	SPG11	c.6477+18C>T	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44862705G>A	(Likely) benign	1 lab	df71a9d67f
1:201334307 TNNT2 C>A	1	201334307	201334307	C	A	TNNT2	c.381+12G>T	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201334307C>A	(Likely) benign	1 lab	02fd89210b
12:49949635 KCNH3 C>T	12	49949635	49949635	C	T	KCNH3	c.2369C>T	NM_012284.3	NP_036416.1:p.(Ala790Val)	NC_000012.11:g.49949635C>T	(Likely) benign	1 lab	02fe5d18a3
17:29552239 NF1 C>T	17	29552239	29552239	C	T	NF1	c.1972C>T	NM_000267.3	NP_000258.1:p.(Leu658Phe)	NC_000017.10:g.29552239C>T	VUS	1 lab	02ffda7878
17:76487520 DNAH17 C>T	17	76487520	76487520	C	T	DNAH17	c.6669+5G>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76487520C>T	VUS	1 lab	0301e9c8c2
17:4875559 CAMTA2 C>T	17	4875559	4875559	C	T	CAMTA2	c.2845G>A	NM_001171167.1	NP_001164638.1:p.(Ala949Thr)	NC_000017.10:g.4875559C>T	VUS	1 lab	03028554f0
2:96933472 CIAO1 A>G	2	96933472	96933472	A	G	CIAO1	c.398A>G	NM_004804.2	NP_004795.1:p.(Glu133Gly)	NC_000002.11:g.96933472A>G	VUS	1 lab	0302db7f90
17:7750027 KDM6B G>T	17	7750027	7750027	G	T	KDM6B	c.680G>T	NM_001080424.2	NP_001073893.1:p.(Gly227Val)	NC_000017.10:g.7750027G>T	VUS	1 lab	df7217e660
11:1276353 MUC5B G>A	11	1276353	1276353	G	A	MUC5B	c.15747G>A	NM_002458.2	NP_002449.2:p.(Thr5249=)	NC_000011.9:g.1276353G>A	(Likely) benign	1 lab	0305759def
X:64957095 MSN C>G	X	64957095	64957095	C	G	MSN	c.1146C>G	NM_002444.2	NP_002435.1:p.(Ala382=)	NC_000023.10:g.64957095C>G	(Likely) benign	1 lab	030769af2d
2:9630501 ADAM17 G>A	2	9630501	9630501	G	A	ADAM17	c.2280C>T	NM_003183.6	NP_003174.3:p.(Asp760=)	NC_000002.11:g.9630501G>A	(Likely) benign	1 lab	0308824150
X:128614753 SMARCA1 A>G	X	128614753	128614753	A	G	SMARCA1	c.2367T>C	NM_003069.4	NP_003060.2:p.(Phe789=)	NC_000023.10:g.128614753A>G	(Likely) benign	1 lab	030ab0fa69
2:46203630 PRKCE G>T	2	46203630	46203630	G	T	PRKCE	c.475G>T	NM_005400.3	NP_005391.1:p.(Ala159Ser)	NC_000002.11:g.46203630G>T	VUS	1 lab	030bb85438
1:227171514 COQ8A G>A	1	227171514	227171514	G	A	COQ8A	c.1215G>A	NM_020247.4	NP_064632.2:p.(Glu405=)	NC_000001.10:g.227171514G>A	VUS	1 lab	030dc184af
11:614918 IRF7 C>T	11	614918	614918	C	T	IRF7	c.312G>A	NM_004031.3	NP_004022.2:p.(Trp104Ter)	NC_000011.9:g.614918C>T	(Likely) pathogenic	1 lab	030ee44f1a
7:92122443 PEX1 C>T	7	92122443	92122443	C	T	PEX1	c.2407G>A	NM_001282678.1	NP_001269607.1:p.(Val803Met)	NC_000007.13:g.92122443C>T	(Likely) benign	1 lab	030ee588a9
5:172661973 NKX2-5 C>T	5	172661973	172661973	C	T	NKX2-5	c.114G>A	NM_004387.3	NP_004378.1:p.(Glu38=)	NC_000005.9:g.172661973C>T	(Likely) benign	1 lab	0312271db7
X:18622719 CDKL5 C>T	X	18622719	18622719	C	T	CDKL5	c.1675C>T	NM_003159.3	NP_003150.1:p.(Arg559Ter)	NC_000023.10:g.18622719C>T	(Likely) pathogenic	1 lab	df7442862c
3:197430409 RUBCN T>A	3	197430409	197430409	T	A	RUBCN	c.390+10A>T	NM_001145642.4	NP_001139114.1:p.?	NC_000003.11:g.197430409T>A	(Likely) benign	1 lab	0314790a8f
5:149247713 PDE6A A>G	5	149247713	149247713	A	G	PDE6A	c.2144T>C	NM_000440.2	NP_000431.2:p.(Met715Thr)	NC_000005.9:g.149247713A>G	VUS	1 lab	03150a5f55
11:118960331 HMBS AGAAGGGGT>A	11	118960331	118960344	AGAAGGGGT	A	HMBS	c.267-56_267-49del	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118960337_118960344del	(Likely) benign	1 lab	03155b7dd3
14:51227044 NIN C>T	14	51227044	51227044	C	T	NIN	c.1930G>A	NM_020921.3	NP_065972.3:p.(Val644Met)	NC_000014.8:g.51227044C>T	(Likely) benign	1 lab	0315d61554
16:51174620 SALL1 G>T	16	51174620	51174620	G	T	SALL1	c.1513C>A	NM_002968.2	NP_002959.2:p.(His505Asn)	NC_000016.9:g.51174620G>T	(Likely) pathogenic	1 lab	0315e29984
X:147014027 FMR1 T>C	X	147014027	147014027	T	C	FMR1	c.714T>C	NM_002024.5	NP_002015.1:p.(Gly238=)	NC_000023.10:g.147014027T>C	(Likely) benign	1 lab	031612bb3a
12:7046620 ATN1 G>A	12	7046620	7046620	G	A	ATN1	c.2190G>A	NM_001940.4	NP_001931.2:p.(Pro730=)	NC_000012.11:g.7046620G>A	(Likely) benign	1 lab	0317fd86cc
13:100635197 ZIC2 C>T	13	100635197	100635197	C	T	ZIC2	c.879C>T	NM_007129.4	NP_009060.2:p.(Gly293=)	NC_000013.10:g.100635197C>T	(Likely) benign	1 lab	03182b9655
12:7244286 MISSING C>T	12	7244286	7244286	C	T	MISSING				NC_000012.11:g.7244286C>T	(Likely) benign	1 lab	031cb7c02c
6:143094706 HIVEP2 C>T	6	143094706	143094706	C	T	HIVEP2	c.1170G>A	NM_006734.3	NP_006725.3:p.(Pro390=)	NC_000006.11:g.143094706C>T	(Likely) benign	1 lab	031d10e0c3
4:123665071 BBS12 G>A	4	123665071	123665071	G	A	BBS12	c.2024G>A	NM_001178007.1	NP_001171478.1:p.(Arg675Gln)	NC_000004.11:g.123665071G>A	VUS	1 lab	031eb33570
1:216074220 USH2A A>C	1	216074220	216074220	A	C	USH2A	c.7328T>G	NM_206933.2	NP_996816.2:p.(Leu2443Arg)	NC_000001.10:g.216074220A>C	VUS	1 lab	0320419e90
X:153628797 RPL10 C>T	X	153628797	153628797	C	T	RPL10	c.330-8C>T	NM_001303625.1	NP_001290554.1:p.?	NC_000023.10:g.153628797C>T	(Likely) benign	1 lab	032173c35c
18:48586278 SMAD4 A>G	18	48586278	48586278	A	G	SMAD4	c.947A>G	NM_005359.5	NP_005350.1:p.(Asn316Ser)	NC_000018.9:g.48586278A>G	VUS	1 lab	0322491e7d
21:47532249 COL6A2 G>A	21	47532249	47532249	G	A	COL6A2	c.472G>A	NM_058175.2	NP_478055.2:p.(Val158Met)	NC_000021.8:g.47532249G>A	VUS	1 lab	03226ffbb2
X:135593642 HTATSF1 G>A	X	135593642	135593642	G	A	HTATSF1	c.1738G>A	NM_001163280.1	NP_001156752.1:p.(Glu580Lys)	NC_000023.10:g.135593642G>A	(Likely) benign	1 lab	0323ad43cf
X:65253408 VSIG4 T>A	X	65253408	65253408	T	A	VSIG4	c.320A>T	NM_001184830.1	NP_001171759.1:p.(Asp107Val)	NC_000023.10:g.65253408T>A	VUS	1 lab	03243deafb
2:228855883 SPHKAP G>A	2	228855883	228855883	G	A	SPHKAP	c.4792C>T	NM_001142644.2	NP_001136116.1:p.(Pro1598Ser)	NC_000002.11:g.228855883G>A	(Likely) benign	1 lab	0325293db1
6:71003965 COL9A1 T>A	6	71003965	71003965	T	A	COL9A1	c.601A>T	NM_001851.4	NP_001842.3:p.(Ile201Phe)	NC_000006.11:g.71003965T>A	VUS	1 lab	03275619de
3:196387116 NRROS T>C	3	196387116	196387116	T	C	NRROS	c.602T>C	NM_198565.3	NP_940967.1:p.(Phe201Ser)	NC_000003.11:g.196387116T>C	VUS	1 lab	032810dbd1
7:5353055 TNRC18 C>T	7	5353055	5353055	C	T	TNRC18	c.7467G>A	NM_001080495.2	NP_001073964.2:p.(Ala2489=)	NC_000007.13:g.5353055C>T	(Likely) benign	1 lab	0328cdae3b
4:46252503 GABRA2 G>A	4	46252503	46252503	G	A	GABRA2	c.1178C>T	NM_001114175.2	NP_001107647.1:p.(Thr393Met)	NC_000004.11:g.46252503G>A	(Likely) benign	1 lab	032a772d29
16:89813256 FANCA T>C	16	89813256	89813256	T	C	FANCA	c.3391A>G	NM_001286167.2	NP_001273096.1:p.(Thr1131Ala)	NC_000016.9:g.89813256T>C	(Likely) pathogenic	1 lab	032ab36a1d
1:152281297 FLG A>G	1	152281297	152281297	A	G	FLG	c.6065T>C	NM_002016.1	NP_002007.1:p.(Ile2022Thr)	NC_000001.10:g.152281297A>G	(Likely) benign	1 lab	032b6e85b6
14:21770681 RPGRIP1 A>G	14	21770681	21770681	A	G	RPGRIP1	c.525A>G	NM_020366.3	NP_065099.3:p.(Pro175=)	NC_000014.8:g.21770681A>G	(Likely) benign	1 lab	032ca56c71
3:184033612 EIF4G1 C>T	3	184033612	184033612	C	T	EIF4G1	c.28C>T	NM_182917.4	NP_886553.3:p.(Pro10Ser)	NC_000003.11:g.184033612C>T	VUS	1 lab	032d0b11d9
9:126133146 CRB2 G>A	9	126133146	126133146	G	A	CRB2	c.1814G>A	NM_173689.6	NP_775960.4:p.(Arg605His)	NC_000009.11:g.126133146G>A	(Likely) benign	1 lab	032edf21a2
16:88779260 CTU2 G>C	16	88779260	88779260	G	C	CTU2	c.897G>C	NM_001318507.1	NP_001305436.1:p.(Leu299=)	NC_000016.9:g.88779260G>C	(Likely) benign	1 lab	032f5230c5
9:131708504 DOLK T>C	9	131708504	131708504	T	C	DOLK	c.1079A>G	NM_014908.3	NP_055723.1:p.(Tyr360Cys)	NC_000009.11:g.131708504T>C	(Likely) benign	1 lab	032f8918b6
X:77298847 ATP7A C>T	X	77298847	77298847	C	T	ATP7A	c.4038C>T	NM_000052.6	NP_000043.4:p.(Asp1346=)	NC_000023.10:g.77298847C>T	(Likely) benign	1 lab	032fe2aee0
6:76657235 IMPG1 G>T	6	76657235	76657235	G	T	IMPG1	c.1840C>A	NM_001563.3	NP_001554.2:p.(Arg614=)	NC_000006.11:g.76657235G>T	(Likely) benign	1 lab	03306116a4
2:163174391 IFIH1 G>A	2	163174391	163174391	G	A	IFIH1	c.427C>T	NM_022168.4	NP_071451.2:p.(Leu143=)	NC_000002.11:g.163174391G>A	(Likely) benign	1 lab	03309d4fdc
Y:21877827 KDM5D T>G	Y	21877827	21877827	T	G	KDM5D	c.2188A>C	NM_001146705.1	NP_001140177.1:p.(Lys730Gln)	NC_000024.9:g.21877827T>G	VUS	1 lab	0331c70abe
9:139371940 SEC16A G>A	9	139371940	139371940	G	A	SEC16A	c.128C>T	NM_014866.1	NP_055681.1:p.(Pro43Leu)	NC_000009.11:g.139371940G>A	VUS	1 lab	033259645c
17:29592265 NF1 A>AG	17	29592265	29592266	A	AG	NF1	c.4681dup	NM_000267.3	NP_000258.1:p.(Glu1561GlyfsTer40)	NC_000017.10:g.29592266dup	(Likely) pathogenic	1 lab	0334106cb4
6:74331548 SLC17A5 G>T	6	74331548	74331548	G	T	SLC17A5	c.957C>A	NM_012434.4	NP_036566.1:p.(Ile319=)	NC_000006.11:g.74331548G>T	(Likely) benign	1 lab	0334cdbb24
X:151303824 MAGEA10 G>C	X	151303824	151303824	G	C	MAGEA10	c.269C>G	NM_001011543.2	NP_001011543.2:p.(Ala90Gly)	NC_000023.10:g.151303824G>C	(Likely) benign	1 lab	03376b9cca
18:7049114 LAMA1 C>T	18	7049114	7049114	C	T	LAMA1	c.731G>A	NM_005559.3	NP_005550.2:p.(Arg244Gln)	NC_000018.9:g.7049114C>T	VUS	1 lab	0337c078a5
12:40629503 LRRK2 C>T	12	40629503	40629503	C	T	LRRK2	c.423C>T	NM_198578.3	NP_940980.3:p.(Leu141=)	NC_000012.11:g.40629503C>T	(Likely) benign	1 lab	0337c1b56c
1:175063297 TNN C>T	1	175063297	175063297	C	T	TNN	c.1496C>T	NM_022093.1	NP_071376.1:p.(Thr499Met)	NC_000001.10:g.175063297C>T	(Likely) benign	1 lab	0338676fbc
7:117175334 CFTR T>TC	7	117175334	117175336	T	TC	CFTR	c.614dup	NM_000492.3	NP_000483.3:p.(Leu206PhefsTer52)	NC_000007.13:g.117175336dup	(Likely) pathogenic	1 lab	03398bd781
11:111708347 ALG9 G>C	11	111708347	111708347	G	C	ALG9	c.716-9C>G	NM_001352422.1	NP_001339351.1:p.?	NC_000011.9:g.111708347G>C	(Likely) benign	1 lab	033a754277
14:20916958 OSGEP T>C	14	20916958	20916958	T	C	OSGEP	c.570A>G	NM_017807.4	NP_060277.1:p.(Leu190=)	NC_000014.8:g.20916958T>C	(Likely) benign	1 lab	033bc789f9
20:44671797 SLC12A5 C>G	20	44671797	44671797	C	G	SLC12A5	c.1072C>G	NM_020708.4	NP_065759.1:p.(Leu358Val)	NC_000020.10:g.44671797C>G	VUS	1 lab	033c6cabeb
3:41278105 CTNNB1 CG>C	3	41278105	41278106	CG	C	CTNNB1	c.1982del	NM_001904.4	NP_001895.1:p.(Arg661GlnfsTer18)	NC_000003.11:g.41278106del	(Likely) pathogenic	1 lab	033d26327e
15:48789496 FBN1 A>G	15	48789496	48789496	A	G	FBN1	c.2260T>C	NM_000138.4	NP_000129.3:p.(Tyr754His)	NC_000015.9:g.48789496A>G	VUS	1 lab	033d68c12d
2:1652912 PXDN G>C	2	1652912	1652912	G	C	PXDN	c.2640C>G	NM_012293.2	NP_036425.1:p.(Arg880=)	NC_000002.11:g.1652912G>C	(Likely) benign	1 lab	033d8bfc99
10:69959159 MYPN T>A	10	69959159	69959159	T	A	MYPN	c.3320T>A	NM_032578.3	NP_115967.2:p.(Leu1107Gln)	NC_000010.10:g.69959159T>A	VUS	1 lab	033e319fac
17:11603137 DNAH9 C>T	17	11603137	11603137	C	T	DNAH9	c.4962C>T	NM_001372.3	NP_001363.2:p.(Leu1654=)	NC_000017.10:g.11603137C>T	(Likely) benign	1 lab	033e6ed5fd
2:27261627 TMEM214 C>T	2	27261627	27261627	C	T	TMEM214	c.1351C>T	NM_017727.5	NP_060197.4:p.(Leu451=)	NC_000002.11:g.27261627C>T	(Likely) benign	1 lab	033f162b12
18:43496063 EPG5 T>C	18	43496063	43496063	T	C	EPG5	c.3493A>G	NM_020964.3	NP_066015.2:p.(Ile1165Val)	NC_000018.9:g.43496063T>C	(Likely) benign	1 lab	03400dd6cf
12:23696219 SOX5 C>T	12	23696219	23696219	C	T	SOX5	c.1697G>A	NM_006940.6	NP_008871.3:p.(Trp566Ter)	NC_000012.11:g.23696219C>T	(Likely) pathogenic	1 lab	df7e0d128b
X:133955370 PABIR3 C>A	X	133955370	133955370	C	A	PABIR3	c.203C>A	NM_001170783.1	NP_001164254.1:p.(Pro68His)	NC_000023.10:g.133955370C>A	VUS	1 lab	0341e58698
3:128623358 ACAD9 G>A	3	128623358	128623358	G	A	ACAD9	c.1149+10G>A	NM_014049.4	NP_054768.2:p.?	NC_000003.11:g.128623358G>A	(Likely) benign	1 lab	03440b92d9
11:119215029 MFRP T>C	11	119215029	119215029	T	C	MFRP	c.971A>G	NM_031433.3	NP_113621.1:p.(Gln324Arg)	NC_000011.9:g.119215029T>C	(Likely) benign	1 lab	03442c369a
16:624424 PIGQ C>T	16	624424	624424	C	T	PIGQ	c.350C>T	NM_004204.3	NP_004195.2:p.(Ala117Val)	NC_000016.9:g.624424C>T	(Likely) benign	1 lab	0344d217a4
X:109560960 AMMECR1 C>T	X	109560960	109560960	C	T	AMMECR1	c.340G>A	NM_015365.2	NP_056180.1:p.(Ala114Thr)	NC_000023.10:g.109560960C>T	(Likely) benign	1 lab	0344ec439f
16:2114394 TSC2 A>AAC	16	2114394	2114395	A	AAC	TSC2	c.1565_1566insAC	NM_000548.3	NP_000539.2:p.(His522GlnfsTer14)	NC_000016.9:g.2114394_2114395insAC	(Likely) pathogenic	1 lab	0349ace7eb
2:179582078 TTN C>A	2	179582078	179582078	C	A	TTN	c.25383G>T	NM_001267550.1	NP_001254479.1:p.(Lys8461Asn)	NC_000002.11:g.179582078C>A	VUS	1 lab	0349ca2412
2:179638737 TTN G>A	2	179638737	179638737	G	A	TTN	c.7158C>T	NM_001267550.1	NP_001254479.1:p.(Gly2386=)	NC_000002.11:g.179638737G>A	VUS	1 lab	034b455220
17:79479359 ACTG1 G>A	17	79479359	79479359	G	A	ACTG1	c.22C>T	NM_001199954.2	NP_001186883.1:p.(Leu8=)	NC_000017.10:g.79479359G>A	(Likely) benign	1 lab	034bfda063
20:3672242 SIGLEC1 G>A	20	3672242	3672242	G	A	SIGLEC1	c.4336C>T	NM_023068.4	NP_075556.1:p.(Arg1446Cys)	NC_000020.10:g.3672242G>A	VUS	1 lab	034ca03f56
17:29528027 NF1 CT>C	17	29528027	29528031	CT	C	NF1	c.1063-24del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29528031del	(Likely) benign	1 lab	034e164097
7:81339467 HGF A>G	7	81339467	81339467	A	G	HGF	c.1537T>C	NM_000601.5	NP_000592.3:p.(Tyr513His)	NC_000007.13:g.81339467A>G	VUS	1 lab	034e44222a
11:94326720 PIWIL4 A>G	11	94326720	94326720	A	G	PIWIL4	c.1063A>G	NM_152431.3	NP_689644.2:p.(Met355Val)	NC_000011.9:g.94326720A>G	(Likely) benign	1 lab	034e67faba
3:36875267 TRANK1 A>T	3	36875267	36875267	A	T	TRANK1	c.5807T>A	NM_001329998.1	NP_001316927.1:p.(Ile1936Lys)	NC_000003.11:g.36875267A>T	VUS	1 lab	034ecbd2fc
12:56477669 ERBB3 G>A	12	56477669	56477669	G	A	ERBB3	c.217G>A	NM_001982.4	NP_001973.2:p.(Asp73Asn)	NC_000012.11:g.56477669G>A	VUS	1 lab	df7ec8be76
21:47821588 PCNT A>G	21	47821588	47821588	A	G	PCNT	c.4915A>G	NM_006031.5	NP_006022.3:p.(Ile1639Val)	NC_000021.8:g.47821588A>G	(Likely) benign	1 lab	0353f28263
2:47690228 MSH2 G>A	2	47690228	47690228	G	A	MSH2	c.1445G>A	NM_000251.2	NP_000242.1:p.(Arg482Lys)	NC_000002.11:g.47690228G>A	VUS	1 lab	03540cb6d1
1:150530954 ADAMTSL4 C>T	1	150530954	150530954	C	T	ADAMTSL4	c.2457C>T	NM_001288608.1	NP_001275537.1:p.(Ser819=)	NC_000001.10:g.150530954C>T	(Likely) benign	1 lab	03588581e2
19:46303722 RSPH6A T>C	19	46303722	46303722	T	C	RSPH6A	c.1898A>G	NM_030785.4	NP_110412.1:p.(Tyr633Cys)	NC_000019.9:g.46303722T>C	VUS	1 lab	0358992c5d
16:30990608 SETD1A T>C	16	30990608	30990608	T	C	SETD1A	c.3501T>C	NM_014712.2	NP_055527.1:p.(Thr1167=)	NC_000016.9:g.30990608T>C	(Likely) benign	1 lab	0358cb6d81
2:37041433 VIT A>C	2	37041433	37041433	A	C	VIT	c.2011A>C	NM_053276.3	NP_444506.2:p.(Asn671His)	NC_000002.11:g.37041433A>C	VUS	1 lab	03591a16f1
16:88706445 IL17C G>T	16	88706445	88706445	G	T	IL17C	c.559G>T	NM_013278.3	NP_037410.1:p.(Val187Phe)	NC_000016.9:g.88706445G>T	VUS	1 lab	03594a0b2b
5:127727815 FBN2 T>G	5	127727815	127727815	T	G	FBN2	c.1499A>C	NM_001999.3	NP_001990.2:p.(His500Pro)	NC_000005.9:g.127727815T>G	VUS	1 lab	0359704706
4:186435475 PDLIM3 T>C	4	186435475	186435475	T	C	PDLIM3	c.347A>G	NM_014476.5	NP_055291.2:p.(Glu116Gly)	NC_000004.11:g.186435475T>C	(Likely) benign	1 lab	035a5c8883
19:36214780 KMT2B C>G	19	36214780	36214780	C	G	KMT2B	c.3206C>G	NM_014727.2	NP_055542.1:p.(Ser1069Cys)	NC_000019.9:g.36214780C>G	VUS	1 lab	035a915202
3:136219085 STAG1 A>G	3	136219085	136219085	A	G	STAG1	c.882T>C	NM_005862.3	NP_005853.2:p.(Gly294=)	NC_000003.11:g.136219085A>G	(Likely) benign	1 lab	035b6e7f7a
11:119215716 MFRP T>C	11	119215716	119215716	T	C	MFRP	c.642-2A>G	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119215716T>C	(Likely) pathogenic	1 lab	035c49cfba
12:65720709 MSRB3 C>T	12	65720709	65720709	C	T	MSRB3	c.180C>T	NM_001193460.1	NP_001180389.1:p.(Thr60=)	NC_000012.11:g.65720709C>T	(Likely) benign	1 lab	035c7dfcf0
16:57685444 ADGRG1 C>T	16	57685444	57685444	C	T	ADGRG1	c.397C>T	NM_001145772.2	NP_001139244.1:p.(Pro133Ser)	NC_000016.9:g.57685444C>T	(Likely) benign	1 lab	035ce4fa3b
22:38369910 SOX10 G>A	22	38369910	38369910	G	A	SOX10	c.993C>T	NM_006941.3	NP_008872.1:p.(Ser331=)	NC_000022.10:g.38369910G>A	(Likely) benign	1 lab	035dab2722
19:50792739 MYH14 A>G	19	50792739	50792739	A	G	MYH14	c.4799A>G	NM_001145809.1	NP_001139281.1:p.(Asn1600Ser)	NC_000019.9:g.50792739A>G	(Likely) benign	1 lab	035e76d3ba
16:2121509 TSC2 A>G	16	2121509	2121509	A	G	TSC2	c.1840-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121509A>G	(Likely) pathogenic	1 lab	035ffdc5de
2:179487386 TTN C>CA	2	179487386	179487387	C	CA	TTN	c.44913+10dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179487387dup	(Likely) benign	1 lab	03607b8150
12:58131085 AGAP2 A>C	12	58131085	58131085	A	C	AGAP2	c.945T>G	NM_001122772.2	NP_001116244.1:p.(Pro315=)	NC_000012.11:g.58131085A>C	(Likely) benign	1 lab	0362db6521
15:40093742 GPR176 A>T	15	40093742	40093742	A	T	GPR176	c.1139T>A	NM_007223.2	NP_009154.1:p.(Ile380Asn)	NC_000015.9:g.40093742A>T	VUS	1 lab	0362f22408
1:17331309 ATP13A2 G>C	1	17331309	17331309	G	C	ATP13A2	c.355C>G	NM_022089.2	NP_071372.1:p.(Pro119Ala)	NC_000001.10:g.17331309G>C	(Likely) benign	1 lab	03645542d9
15:94888374 MCTP2 A>G	15	94888374	94888374	A	G	MCTP2	c.986A>G	NM_018349.4	NP_060819.3:p.(Lys329Arg)	NC_000015.9:g.94888374A>G	VUS	1 lab	df8ea09989
16:2138604 TSC2 TTGTG>T	16	2138604	2138610	TTGTG	T	TSC2	c.5420_5423del	NM_000548.5	NP_000539.2:p.(Val1807GlufsTer18)	NC_000016.9:g.2138607_2138610del	(Likely) benign	1 lab	03677ee0e7
20:62298818 RTEL1 C>T	20	62298818	62298818	C	T	RTEL1	c.687-4C>T	NM_032957.5	NP_116575.3:p.?	NC_000020.10:g.62298818C>T	(Likely) benign	1 lab	df97548fe9
15:31318369 TRPM1 T>C	15	31318369	31318369	T	C	TRPM1	c.3653A>G	NM_001252020.1	NP_001238949.1:p.(Asp1218Gly)	NC_000015.9:g.31318369T>C	VUS	1 lab	036b652c2b
17:40765072 TUBG1 C>T	17	40765072	40765072	C	T	TUBG1	c.587C>T	NM_001070.5	NP_001061.2:p.(Thr196Met)	NC_000017.10:g.40765072C>T	VUS	1 lab	df9c67704c
11:129722423 TMEM45B A>T	11	129722423	129722423	A	T	TMEM45B	c.46A>T	NM_001331210.1	NP_001318139.1:p.(Ile16Phe)	NC_000011.9:g.129722423A>T	VUS	1 lab	036f01456a
5:126113365 LMNB1 G>A	5	126113365	126113365	G	A	LMNB1	c.165G>A	NM_005573.3	NP_005564.1:p.(Thr55=)	NC_000005.9:g.126113365G>A	(Likely) benign	1 lab	036f864338
X:153880763 CTAG2 G>A	X	153880763	153880763	G	A	CTAG2	c.412C>T	NM_020994.4	NP_066274.2:p.(Arg138Trp)	NC_000023.10:g.153880763G>A	(Likely) benign	1 lab	03700c6564
2:170050323 LRP2 G>A	2	170050323	170050323	G	A	LRP2	c.8778C>T	NM_004525.3	NP_004516.2:p.(Asp2926=)	NC_000002.11:g.170050323G>A	(Likely) benign	1 lab	037048af16
19:6751061 TRIP10 A>C	19	6751061	6751061	A	C	TRIP10	c.1506A>C	NM_001288963.1	NP_001275892.1:p.(Pro502=)	NC_000019.9:g.6751061A>C	(Likely) benign	1 lab	0370b82280
X:149638704 MAMLD1 G>A	X	149638704	149638704	G	A	MAMLD1	c.859G>A	NM_005491.4	NP_005482.2:p.(Ala287Thr)	NC_000023.10:g.149638704G>A	(Likely) benign	1 lab	0371a404a3
11:3877605 STIM1 C>T	11	3877605	3877605	C	T	STIM1	c.105C>T	NM_001277961.1	NP_001264890.1:p.(Ser35=)	NC_000011.9:g.3877605C>T	(Likely) benign	1 lab	03724c7144
10:48388119 RBP3 A>G	10	48388119	48388119	A	G	RBP3	c.2759T>C	NM_002900.2	NP_002891.1:p.(Met920Thr)	NC_000010.10:g.48388119A>G	(Likely) benign	1 lab	0372a507e6
10:135020742 KNDC1 C>T	10	135020742	135020742	C	T	KNDC1	c.3681C>T	NM_152643.7	NP_689856.6:p.(Asp1227=)	NC_000010.10:g.135020742C>T	(Likely) benign	1 lab	03735070ab
14:55332076 GCH1 C>G	14	55332076	55332076	C	G	GCH1	c.422G>C	NM_000161.3	NP_000152.1:p.(Cys141Ser)	NC_000014.8:g.55332076C>G	(Likely) pathogenic	1 lab	df9c829c84
X:47102906 USP11 C>T	X	47102906	47102906	C	T	USP11	c.1824C>T	NM_004651.3	NP_004642.2:p.(Tyr608=)	NC_000023.10:g.47102906C>T	(Likely) benign	1 lab	0374f3a18e
3:184049774 EIF4G1 G>C	3	184049774	184049774	G	C	EIF4G1	c.4521G>C	NM_182917.4	NP_886553.3:p.(Ala1507=)	NC_000003.11:g.184049774G>C	(Likely) benign	1 lab	037534ff47
4:39506138 UGDH T>C	4	39506138	39506138	T	C	UGDH	c.1172-10A>G	NM_003359.4	NP_003350.1:p.?	NC_000004.11:g.39506138T>C	(Likely) benign	1 lab	03754c2a7a
5:55243420 IL6ST TAAAAAAAA>T	5	55243420	55243445	TAAAAAAAA	T	IL6ST	c.1841-11_1841-4del	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243438_55243445del	(Likely) benign	1 lab	df9dac97fa
16:175075 NPRL3 CAAA>C	16	175075	175096	CAAA	C	NPRL3	c.188+5443_188+5445del	NM_001077350.3	NP_001070818.1:p.?	NC_000016.9:g.175094_175096del	(Likely) benign	1 lab	dfa04f2a15
2:26417952 HADHA G>C	2	26417952	26417952	G	C	HADHA	c.1620+9C>G	NM_000182.4	NP_000173.2:p.?	NC_000002.11:g.26417952G>C	(Likely) benign	1 lab	0378bf0e40
19:54299211 NLRP12 C>G	19	54299211	54299211	C	G	NLRP12	c.3003G>C	NM_001277126.1	NP_001264055.1:p.(Leu1001Phe)	NC_000019.9:g.54299211C>G	VUS	1 lab	0378c30b2b
16:47549473 PHKB G>T	16	47549473	47549473	G	T	PHKB	c.534G>T	NM_001031835.3	NP_001027005.1:p.(Met178Ile)	NC_000016.9:g.47549473G>T	(Likely) benign	1 lab	dfa3879309
4:2883626 ADD1 C>G	4	2883626	2883626	C	G	ADD1	c.197C>G	NM_001286645.1	NP_001273574.1:p.(Ala66Gly)	NC_000004.11:g.2883626C>G	VUS	1 lab	0379f0756e
9:2729699 KCNV2 C>T	9	2729699	2729699	C	T	KCNV2	c.1610C>T	NM_133497.3	NP_598004.1:p.(Pro537Leu)	NC_000009.11:g.2729699C>T	(Likely) benign	1 lab	037d213e18
1:1459697 ATAD3A C>T	1	1459697	1459697	C	T	ATAD3A	c.1278C>T	NM_018188.4	NP_060658.3:p.(Gly426=)	NC_000001.10:g.1459697C>T	VUS	1 lab	037e80ea2b
8:42329866 SLC20A2 T>C	8	42329866	42329866	T	C	SLC20A2	c.43A>G	NM_006749.4	NP_006740.1:p.(Ile15Val)	NC_000008.10:g.42329866T>C	(Likely) benign	1 lab	037fb8650d
3:58064474 FLNB C>T	3	58064474	58064474	C	T	FLNB	c.572C>T	NM_001164317.1	NP_001157789.1:p.(Pro191Leu)	NC_000003.11:g.58064474C>T	VUS	1 lab	0381a151dc
16:52484321 TOX3 G>A	16	52484321	52484321	G	A	TOX3	c.531C>T	NM_001146188.2	NP_001139660.1:p.(Leu177=)	NC_000016.9:g.52484321G>A	(Likely) benign	1 lab	0382a0619e
21:47783655 PCNT C>G	21	47783655	47783655	C	G	PCNT	c.2415C>G	NM_006031.5	NP_006022.3:p.(Ala805=)	NC_000021.8:g.47783655C>G	(Likely) benign	1 lab	0382bfca09
8:144662823 EEF1D ATCATCCTCG>A	8	144662823	144662840	ATCATCCTCG	A	EEF1D	c.1554_1562del	NM_032378.7	NP_115754.4:p.(Glu519_Asp521del)	NC_000008.10:g.144662832_144662840del	VUS	1 lab	dfa56acb12
7:23212627 KLHL7 A>G	7	23212627	23212627	A	G	KLHL7	c.1296A>G	NM_018846.4	NP_061334.4:p.(Lys432=)	NC_000007.13:g.23212627A>G	(Likely) benign	1 lab	0384bfc76a
6:80626422 ELOVL4 A>G	6	80626422	80626422	A	G	ELOVL4	c.848T>C	NM_022726.3	NP_073563.1:p.(Met283Thr)	NC_000006.11:g.80626422A>G	(Likely) benign	1 lab	03886c591f
11:62124557 ASRGL1 C>T	11	62124557	62124557	C	T	ASRGL1	c.432C>T	NM_025080.3	NP_079356.3:p.(Asn144=)	NC_000011.9:g.62124557C>T	(Likely) benign	1 lab	03892d32d8
20:57484578 GNAS T>C	20	57484578	57484578	T	C	GNAS	c.2591T>C	NM_080425.3	NP_536350.2:p.(Met864Thr)	NC_000020.10:g.57484578T>C	VUS	1 lab	03896c17da
X:119293320 RHOXF2 G>A	X	119293320	119293320	G	A	RHOXF2	c.479G>A	NM_032498.2	NP_115887.1:p.(Ser160Asn)	NC_000023.10:g.119293320G>A	(Likely) benign	1 lab	038a28d463
2:73613274 ALMS1 C>T	2	73613274	73613274	C	T	ALMS1	c.281C>T	NM_015120.4	NP_055935.4:p.(Pro94Leu)	NC_000002.11:g.73613274C>T	(Likely) benign	1 lab	038a8d8763
21:34635104 IFNAR2 C>A	21	34635104	34635104	C	A	IFNAR2	c.716C>A	NM_001289128.1	NP_001276057.1:p.(Ser239Ter)	NC_000021.8:g.34635104C>A	VUS	1 lab	038ab27a24
X:66905872 AR G>A	X	66905872	66905872	G	A	AR	c.1789G>A	NM_000044.4	NP_000035.2:p.(Ala597Thr)	NC_000023.10:g.66905872G>A	(Likely) pathogenic	1 lab	038dff9c17
2:135214305 TMEM163 G>A	2	135214305	135214305	G	A	TMEM163	c.852C>T	NM_030923.5	NP_112185.1:p.(His284=)	NC_000002.11:g.135214305G>A	(Likely) benign	1 lab	038e253f62
15:29561738 NSMCE3 G>A	15	29561738	29561738	G	A	NSMCE3	c.172C>T	NM_138704.3	NP_619649.1:p.(Gln58Ter)	NC_000015.9:g.29561738G>A	(Likely) pathogenic	1 lab	0390c6faef
X:18631366 CDKL5 C>T	X	18631366	18631366	C	T	CDKL5	c.2247C>T	NM_001323289.1	NP_001310218.1:p.(His749=)	NC_000023.10:g.18631366C>T	(Likely) benign	1 lab	0391751101
2:135745647 MAP3K19 C>T	2	135745647	135745647	C	T	MAP3K19	c.795G>A	NM_025052.4	NP_079328.3:p.(Pro265=)	NC_000002.11:g.135745647C>T	(Likely) benign	1 lab	03940bd933
1:22179236 HSPG2 T>C	1	22179236	22179236	T	C	HSPG2	c.6684A>G	NM_001291860.1	NP_001278789.1:p.(Leu2228=)	NC_000001.10:g.22179236T>C	(Likely) benign	1 lab	03956dfcc8
1:119962142 HSD3B2 G>A	1	119962142	119962142	G	A	HSD3B2	c.244G>A	NM_001166120.1	NP_001159592.1:p.(Ala82Thr)	NC_000001.10:g.119962142G>A	(Likely) pathogenic	1 lab	0395bdfeb0
1:20980247 DDOST T>C	1	20980247	20980247	T	C	DDOST	c.866A>G	NM_005216.4	NP_005207.2:p.(Tyr289Cys)	NC_000001.10:g.20980247T>C	VUS	1 lab	0395e7318b
10:23481591 PTF1A G>T	10	23481591	23481591	G	T	PTF1A	c.132G>T	NM_178161.2	NP_835455.1:p.(Ala44=)	NC_000010.10:g.23481591G>T	(Likely) benign	1 lab	03969ee5b4
7:45747987 ADCY1 G>A	7	45747987	45747987	G	A	ADCY1	c.2856G>A	NM_021116.3	NP_066939.1:p.(Ala952=)	NC_000007.13:g.45747987G>A	(Likely) benign	1 lab	0396a8287f
5:1222005 SLC6A19 G>A	5	1222005	1222005	G	A	SLC6A19	c.1891G>A	NM_001003841.2	NP_001003841.1:p.(Asp631Asn)	NC_000005.9:g.1222005G>A	(Likely) benign	1 lab	039701246c
16:2149896 PKD1 C>T	16	2149896	2149896	C	T	PKD1	c.9889G>A	NM_001009944.2	NP_001009944.2:p.(Val3297Met)	NC_000016.9:g.2149896C>T	VUS	1 lab	039960acd5
9:135810469 TSC1 GT>G	9	135810469	135810470	GT	G	TSC1	c.-131del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135810470del	(Likely) benign	1 lab	0399af1e64
17:7604136 WRAP53 A>G	17	7604136	7604136	A	G	WRAP53	c.720A>G	NM_018081.2	NP_060551.2:p.(Pro240=)	NC_000017.10:g.7604136A>G	(Likely) benign	1 lab	0399c27b0f
1:16461677 EPHA2 G>A	1	16461677	16461677	G	A	EPHA2	c.1436C>T	NM_004431.4	NP_004422.2:p.(Ser479Phe)	NC_000001.10:g.16461677G>A	VUS	1 lab	039a27864f
5:13830749 DNAH5 A>G	5	13830749	13830749	A	G	DNAH5	c.6018T>C	NM_001369.2	NP_001360.1:p.(Cys2006=)	NC_000005.9:g.13830749A>G	(Likely) benign	1 lab	039b7c1417
X:114424467 RBMXL3 C>T	X	114424467	114424467	C	T	RBMXL3	c.463C>T	NM_001145346.1	NP_001138818.1:p.(Arg155Trp)	NC_000023.10:g.114424467C>T	(Likely) benign	1 lab	039d71e1e0
X:17745542 NHS C>T	X	17745542	17745542	C	T	NHS	c.3316C>T	NM_001291867.1	NP_001278796.1:p.(His1106Tyr)	NC_000023.10:g.17745542C>T	VUS	1 lab	03a08ff7c5
19:15290215 NOTCH3 G>A	19	15290215	15290215	G	A	NOTCH3	c.3420C>T	NM_000435.2	NP_000426.2:p.(Leu1140=)	NC_000019.9:g.15290215G>A	(Likely) benign	1 lab	03a0a10916
16:83941858 MLYCD C>T	16	83941858	83941858	C	T	MLYCD	c.769C>T	NM_012213.2	NP_036345.2:p.(Leu257=)	NC_000016.9:g.83941858C>T	(Likely) benign	1 lab	03a119b8bc
19:1495353 REEP6 A>G	19	1495353	1495353	A	G	REEP6	c.176A>G	NM_001329556.2	NP_001316485.1:p.(Asn59Ser)	NC_000019.9:g.1495353A>G	VUS	1 lab	03a321908d
X:106840750 FRMPD3 C>T	X	106840750	106840750	C	T	FRMPD3	c.1740C>T	NM_032428.2	NP_115804.1:p.(Asn580=)	NC_000023.10:g.106840750C>T	(Likely) benign	1 lab	03a39ba138
16:53686732 RPGRIP1L C>A	16	53686732	53686732	C	A	RPGRIP1L	c.1867G>T	NM_015272.4	NP_056087.2:p.(Ala623Ser)	NC_000016.9:g.53686732C>A	(Likely) benign	1 lab	03a65b90f9
7:92247463 CDK6 C>A	7	92247463	92247463	C	A	CDK6	c.757G>T	NM_001145306.1	NP_001138778.1:p.(Ala253Ser)	NC_000007.13:g.92247463C>A	(Likely) benign	1 lab	03a86ec576
X:82763800 POU3F4 C>T	X	82763800	82763800	C	T	POU3F4	c.468C>T	NM_000307.4	NP_000298.3:p.(Ala156=)	NC_000023.10:g.82763800C>T	(Likely) benign	1 lab	03a9964d24
14:21897247 CHD8 G>C	14	21897247	21897247	G	C	CHD8	c.1091C>G	NM_001170629.1	NP_001164100.1:p.(Pro364Arg)	NC_000014.8:g.21897247G>C	(Likely) benign	1 lab	03aa034e50
4:96052380 BMPR1B G>A	4	96052380	96052380	G	A	BMPR1B	c.793G>A	NM_001203.2	NP_001194.1:p.(Asp265Asn)	NC_000004.11:g.96052380G>A	(Likely) pathogenic	1 lab	03ab234517
4:5624558 EVC2 A>C	4	5624558	5624558	A	C	EVC2	c.1967T>G	NM_001166136.1	NP_001159608.1:p.(Leu656Arg)	NC_000004.11:g.5624558A>C	VUS	1 lab	03abfd4618
8:120608090 ENPP2 G>T	8	120608090	120608090	G	T	ENPP2	c.1125C>A	NM_006209.4	NP_006200.3:p.(Asp375Glu)	NC_000008.10:g.120608090G>T	(Likely) benign	1 lab	03ac353673
15:28517361 HERC2 G>A	15	28517361	28517361	G	A	HERC2	c.1083C>T	NM_004667.5	NP_004658.3:p.(His361=)	NC_000015.9:g.28517361G>A	(Likely) benign	1 lab	03ac48b499
9:135798734 TSC1 C>T	9	135798734	135798734	C	T	TSC1	c.508+1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135798734C>T	(Likely) pathogenic	1 lab	03acb3c459
2:231037606 SP110 G>C	2	231037606	231037606	G	C	SP110	c.1660C>G	NM_080424.2	NP_536349.2:p.(Arg554Gly)	NC_000002.11:g.231037606G>C	VUS	1 lab	03add431fe
2:233323052 ALPI G>A	2	233323052	233323052	G	A	ALPI	c.1117G>A	NM_001631.5	NP_001622.2:p.(Val373Ile)	NC_000002.11:g.233323052G>A	VUS	1 lab	03ae4195e5
6:33409052 SYNGAP1 G>A	6	33409052	33409052	G	A	SYNGAP1	c.2016G>A	NM_006772.2	NP_006763.2:p.(Thr672=)	NC_000006.11:g.33409052G>A	(Likely) benign	1 lab	03b01f99fb
4:1808989 FGFR3 A>T	4	1808989	1808989	A	T	FGFR3	c.2421A>T	NM_000142.4	NP_000133.1:p.(Ter807CysextTer101)	NC_000004.11:g.1808989A>T	VUS	1 lab	03b24c970e
2:152563449 NEB A>G	2	152563449	152563449	A	G	NEB	c.1098T>C	NM_001271208.1	NP_001258137.1:p.(Ala366=)	NC_000002.11:g.152563449A>G	(Likely) benign	1 lab	03b3b50b3d
15:99467243 IGF1R T>G	15	99467243	99467243	T	G	IGF1R	c.2622+2T>G	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99467243T>G	(Likely) pathogenic	1 lab	03b41559be
15:62991041 TLN2 C>T	15	62991041	62991041	C	T	TLN2	c.1562C>T	NM_015059.2	NP_055874.2:p.(Ser521Leu)	NC_000015.9:g.62991041C>T	(Likely) benign	1 lab	03b8430c37
20:62195224 HELZ2 C>T	20	62195224	62195224	C	T	HELZ2	c.4951G>A	NM_001037335.2	NP_001032412.2:p.(Ala1651Thr)	NC_000020.10:g.62195224C>T	(Likely) benign	1 lab	03b87b81b5
X:123517709 TENM1 G>C	X	123517709	123517709	G	C	TENM1	c.7072C>G	NM_001163278.1	NP_001156750.1:p.(Pro2358Ala)	NC_000023.10:g.123517709G>C	VUS	1 lab	03b9cd5c6a
16:57687980 ADGRG1 G>A	16	57687980	57687980	G	A	ADGRG1	c.703G>A	NM_001145772.2	NP_001139244.1:p.(Ala235Thr)	NC_000016.9:g.57687980G>A	VUS	1 lab	03ba7a1dbe
18:43490539 EPG5 G>C	18	43490539	43490539	G	C	EPG5	c.4152C>G	NM_020964.3	NP_066015.2:p.(His1384Gln)	NC_000018.9:g.43490539G>C	(Likely) benign	1 lab	03bacc3db7
X:2832772 ARSD G>A	X	2832772	2832772	G	A	ARSD	c.1043C>T	NM_009589.3	NP_033667.2:p.(Ala348Val)	NC_000023.10:g.2832772G>A	VUS	1 lab	0f86fa1530
12:133198064 P2RX2 G>A	12	133198064	133198064	G	A	P2RX2	c.1019G>A	NM_001282165.1	NP_001269094.1:p.(Arg340Gln)	NC_000012.11:g.133198064G>A	VUS	1 lab	03bc0999a1
1:39934310 MACF1 G>A	1	39934310	39934310	G	A	MACF1	c.15600G>A	NM_012090.5	NP_036222.3:p.(Arg5200=)	NC_000001.10:g.39934310G>A	(Likely) benign	1 lab	03bc7d7019
17:80884315 TBCD G>A	17	80884315	80884315	G	A	TBCD	c.2419G>A	NM_005993.4	NP_005984.3:p.(Glu807Lys)	NC_000017.10:g.80884315G>A	(Likely) benign	1 lab	03be904c0e
15:51773137 DMXL2 T>G	15	51773137	51773137	T	G	DMXL2	c.6166A>C	NM_001174116.1	NP_001167587.1:p.(Arg2056=)	NC_000015.9:g.51773137T>G	(Likely) benign	1 lab	03c00a07a2
7:44189429 GCK C>T	7	44189429	44189429	C	T	GCK	c.609G>A	NM_001354800.1	NP_001341729.1:p.(Val203=)	NC_000007.13:g.44189429C>T	(Likely) benign	1 lab	03c1aa0395
X:3235735 MXRA5 G>A	X	3235735	3235735	G	A	MXRA5	c.5987C>T	NM_015419.3	NP_056234.2:p.(Ser1996Phe)	NC_000023.10:g.3235735G>A	(Likely) benign	1 lab	03c3ab1450
15:48791235 FBN1 G>A	15	48791235	48791235	G	A	FBN1	c.2114C>T	NM_000138.4	NP_000129.3:p.(Ala705Val)	NC_000015.9:g.48791235G>A	VUS	1 lab	03c6a5b137
15:42147490 SPTBN5 C>T	15	42147490	42147490	C	T	SPTBN5	c.9355G>A	NM_016642.4	NP_057726.4:p.(Ala3119Thr)	NC_000015.9:g.42147490C>T	(Likely) benign	1 lab	03c7131563
X:24006704 KLHL15 G>A	X	24006704	24006704	G	A	KLHL15	c.1149C>T	NM_030624.2	NP_085127.2:p.(Ala383=)	NC_000023.10:g.24006704G>A	(Likely) benign	1 lab	03c725f024
17:78023948 CCDC40 A>G	17	78023948	78023948	A	G	CCDC40	c.1025A>G	NM_017950.3	NP_060420.2:p.(Gln342Arg)	NC_000017.10:g.78023948A>G	VUS	1 lab	03c78d66b5
X:127185833 ACTRT1 A>C	X	127185833	127185833	A	C	ACTRT1	c.353T>G	NM_138289.3	NP_612146.1:p.(Ile118Ser)	NC_000023.10:g.127185833A>C	(Likely) benign	1 lab	03c7b757e2
17:7752963 KDM6B C>T	17	7752963	7752963	C	T	KDM6B	c.3357C>T	NM_001080424.2	NP_001073893.1:p.(Ile1119=)	NC_000017.10:g.7752963C>T	(Likely) benign	1 lab	dfb04cb972
15:52720736 MYO5A T>C	15	52720736	52720736	T	C	MYO5A	c.169A>G	NM_000259.3	NP_000250.3:p.(Lys57Glu)	NC_000015.9:g.52720736T>C	(Likely) benign	1 lab	03ca2c31bf
6:161160146 PLG G>C	6	161160146	161160146	G	C	PLG	c.1924G>C	NM_000301.3	NP_000292.1:p.(Glu642Gln)	NC_000006.11:g.161160146G>C	VUS	1 lab	03cb053508
2:215593563 BARD1 G>A	2	215593563	215593563	G	A	BARD1	c.2171C>T	NM_000465.4	NP_000456.2:p.(Ala724Val)	NC_000002.11:g.215593563G>A	VUS	1 lab	dfb148a2e4
X:118797488 SEPTIN6 C>T	X	118797488	118797488	C	T	SEPTIN6	c.298G>A	NM_145799.3	NP_665798.1:p.(Val100Ile)	NC_000023.10:g.118797488C>T	(Likely) benign	1 lab	03ccd6b5be
8:38109729 DDHD2 C>G	8	38109729	38109729	C	G	DDHD2	c.1541C>G	NM_015214.3	NP_056029.2:p.(Thr514Ser)	NC_000008.10:g.38109729C>G	VUS	1 lab	dfb96965f8
16:2106658 TSC2 TGCTGGAC>T	16	2106658	2106667	TGCTGGAC	T	TSC2	c.665_671del	NM_000548.5	NP_000539.2:p.(Leu222ProfsTer36)	NC_000016.9:g.2106661_2106667del	(Likely) pathogenic	1 lab	03cef6ceaf
15:65916671 SLC24A1 G>A	15	65916671	65916671	G	A	SLC24A1	c.253G>A	NM_004727.2	NP_004718.1:p.(Glu85Lys)	NC_000015.9:g.65916671G>A	(Likely) benign	1 lab	03cf545624
7:42004106 GLI3 GC>G	7	42004106	42004111	GC	G	GLI3	c.4564del	NM_000168.6	NP_000159.3:p.(Ala1522ProfsTer2)	NC_000007.13:g.42004111del	(Likely) pathogenic	1 lab	03cf5e28a8
1:220445608 RAB3GAP2 G>A	1	220445608	220445608	G	A	RAB3GAP2	c.72C>T	NM_012414.3	NP_036546.2:p.(His24=)	NC_000001.10:g.220445608G>A	(Likely) benign	1 lab	03cfcd1290
19:9075800 MUC16 G>C	19	9075800	9075800	G	C	MUC16	c.11646C>G	NM_024690.2	NP_078966.2:p.(Ile3882Met)	NC_000019.9:g.9075800G>C	VUS	1 lab	03d0412942
X:74284972 ABCB7 A>C	X	74284972	74284972	A	C	ABCB7	c.1767T>G	NM_004299.6	NP_004290.2:p.(His589Gln)	NC_000023.10:g.74284972A>C	VUS	1 lab	03d09867fd
5:140236189 PCDHA10 G>C	5	140236189	140236189	G	C	PCDHA10	c.556G>C	NM_018901.3	NP_061724.1:p.(Asp186His)	NC_000005.9:g.140236189G>C	(Likely) benign	1 lab	03d2d26e43
6:133802609 EYA4 G>A	6	133802609	133802609	G	A	EYA4	c.979G>A	NM_004100.4	NP_004091.3:p.(Asp327Asn)	NC_000006.11:g.133802609G>A	(Likely) benign	1 lab	03d408becb
X:152990757 ABCD1 G>A	X	152990757	152990757	G	A	ABCD1	c.36G>A	NM_000033.3	NP_000024.2:p.(Gly12=)	NC_000023.10:g.152990757G>A	(Likely) benign	1 lab	03d5c92ea7
7:5352517 TNRC18 A>G	7	5352517	5352517	A	G	TNRC18	c.8005T>C	NM_001080495.2	NP_001073964.2:p.(Ser2669Pro)	NC_000007.13:g.5352517A>G	VUS	1 lab	03d6f25bd0
16:15788082 NDE1 A>G	16	15788082	15788082	A	G	NDE1	c.764A>G	NM_001143979.1	NP_001137451.1:p.(Asn255Ser)	NC_000016.9:g.15788082A>G	VUS	1 lab	03d80ba960
19:9050141 MUC16 C>G	19	9050141	9050141	C	G	MUC16	c.31490G>C	NM_024690.2	NP_078966.2:p.(Ser10497Thr)	NC_000019.9:g.9050141C>G	(Likely) benign	1 lab	03d8610c4a
1:65830311 DNAJC6 TTG>T	1	65830311	65830313	TTG	T	DNAJC6	c.194-6_194-5del	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830312_65830313del	(Likely) benign	1 lab	03d936ff4d
18:70417798 NETO1 C>A	18	70417798	70417798	C	A	NETO1	c.1040G>T	NM_138966.5	NP_620416.2:p.(Gly347Val)	NC_000018.9:g.70417798C>A	VUS	1 lab	03d9daa53d
12:39735365 KIF21A TTCC>T	12	39735365	39735385	TTCC	T	KIF21A	c.1860_1862del	NM_001173464.2	NP_001166935.1:p.(Glu621del)	NC_000012.11:g.39735383_39735385del	VUS	1 lab	03da446a95
1:231858306 DISC1 C>T	1	231858306	231858306	C	T	DISC1	c.1265C>T	NM_001164550.1	NP_001158022.1:p.(Ser422Phe)	NC_000001.10:g.231858306C>T	VUS	1 lab	03db3ddde8
17:29559778 NF1 GC>TT	17	29559778	29559779	GC	TT	NF1	c.3375_3376delinsTT	NM_000267.3	NP_000258.1:p.(Gln1126Ter)	NC_000017.10:g.29559778_29559779delinsTT	(Likely) pathogenic	1 lab	03dc2e210e
8:21832265 XPO7 TC>T	8	21832265	21832267	TC	T	XPO7	c.579del	NM_015024.5	NP_055839.3:p.(Cys194AlafsTer4)	NC_000008.10:g.21832267del	VUS	1 lab	03dcde4202
14:64687241 SYNE2 C>G	14	64687241	64687241	C	G	SYNE2	c.19947C>G	NM_182914.2	NP_878918.2:p.(Pro6649=)	NC_000014.8:g.64687241C>G	(Likely) benign	1 lab	03e0648cb7
22:18905893 PRODH C>A	22	18905893	18905893	C	A	PRODH	c.1363G>T	NM_016335.4	NP_057419.4:p.(Ala455Ser)	NC_000022.10:g.18905893C>A	VUS	1 lab	03e112b281
7:2188814 MAD1L1 T>A	7	2188814	2188814	T	A	MAD1L1	c.1046A>T	NM_003550.2	NP_003541.2:p.(Lys349Met)	NC_000007.13:g.2188814T>A	(Likely) benign	1 lab	03e1209e47
15:90177088 KIF7 C>G	15	90177088	90177088	C	G	KIF7	c.2421G>C	NM_198525.2	NP_940927.2:p.(Thr807=)	NC_000015.9:g.90177088C>G	(Likely) benign	1 lab	03e15da558
5:127728840 FBN2 T>C	5	127728840	127728840	T	C	FBN2	c.1453A>G	NM_001999.3	NP_001990.2:p.(Ile485Val)	NC_000005.9:g.127728840T>C	VUS	1 lab	03e18b8ca9
16:89703873 DPEP1 C>T	16	89703873	89703873	C	T	DPEP1	c.769-3C>T	NM_004413.3	NP_004404.1:p.?	NC_000016.9:g.89703873C>T	(Likely) benign	1 lab	03e61d74de
7:94049850 COL1A2 C>A	7	94049850	94049850	C	A	COL1A2	c.2188-3C>A	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94049850C>A	VUS	1 lab	03e6cf6a5b
3:130884295 NEK11 G>C	3	130884295	130884295	G	C	NEK11	c.664G>C	NM_001353038.1	NP_001339967.1:p.(Glu222Gln)	NC_000003.11:g.130884295G>C	VUS	1 lab	03e716c666
10:100202939 HPS1 T>C	10	100202939	100202939	T	C	HPS1	c.59A>G	NM_001322477.1	NP_001309406.1:p.(Gln20Arg)	NC_000010.10:g.100202939T>C	(Likely) benign	1 lab	03e7352605
12:133209337 POLE G>A	12	133209337	133209337	G	A	POLE	c.6049C>T	NM_006231.4	NP_006222.2:p.(Arg2017Cys)	NC_000012.11:g.133209337G>A	VUS	1 lab	dfbe48a4b7
13:99537338 DOCK9 A>C	13	99537338	99537338	A	C	DOCK9	c.2269T>G	NM_001130048.1	NP_001123520.1:p.(Ser757Ala)	NC_000013.10:g.99537338A>C	(Likely) benign	1 lab	03e8d6eada
X:47774655 ZNF81 G>C	X	47774655	47774655	G	C	ZNF81	c.610G>C	NM_007137.3	NP_009068.2:p.(Asp204His)	NC_000023.10:g.47774655G>C	VUS	1 lab	03e8ed27d9
13:23949339 SACS G>A	13	23949339	23949339	G	A	SACS	c.90C>T	NM_014363.5	NP_055178.3:p.(Thr30=)	NC_000013.10:g.23949339G>A	(Likely) benign	1 lab	03e9338e3f
3:196199387 RNF168 G>A	3	196199387	196199387	G	A	RNF168	c.1019C>T	NM_152617.3	NP_689830.2:p.(Ser340Leu)	NC_000003.11:g.196199387G>A	(Likely) benign	1 lab	03ea1f87a6
12:88524370 CEP290 T>C	12	88524370	88524370	T	C	CEP290	c.496-28A>G	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88524370T>C	VUS	1 lab	0ba17fdbf1
17:29667592 NF1 T>TGAA	17	29667592	29667593	T	TGAA	NF1	c.6928_6929insGAA	NM_000267.3	NP_000258.1:p.(Tyr2310Ter)	NC_000017.10:g.29667592_29667593insGAA	(Likely) pathogenic	1 lab	03eb08cdce
14:51224417 NIN G>C	14	51224417	51224417	G	C	NIN	c.3331C>G	NM_020921.4	NP_065972.4:p.(Pro1111Ala)	NC_000014.8:g.51224417G>C	(Likely) benign	1 lab	dfc3b2609b
11:119535992 NECTIN1 G>T	11	119535992	119535992	G	T	NECTIN1	c.1019C>A	NM_002855.5	NP_002846.3:p.(Pro340Gln)	NC_000011.9:g.119535992G>T	VUS	1 lab	03ee026ec2
20:46265008 NCOA3 C>G	20	46265008	46265008	C	G	NCOA3	c.1878C>G	NM_181659.2	NP_858045.1:p.(Thr626=)	NC_000020.10:g.46265008C>G	(Likely) benign	1 lab	03f8737825
9:135787864 TSC1 T>C	9	135787864	135787864	T	C	TSC1	c.738-20A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135787864T>C	(Likely) benign	1 lab	03ef3d466b
21:47773151 PCNT T>C	21	47773151	47773151	T	C	PCNT	c.1590T>C	NM_006031.5	NP_006022.3:p.(Ala530=)	NC_000021.8:g.47773151T>C	(Likely) benign	1 lab	03f029b3a4
17:73754634 GALK1 G>A	17	73754634	73754634	G	A	GALK1	c.840C>T	NM_000154.1	NP_000145.1:p.(His280=)	NC_000017.10:g.73754634G>A	(Likely) benign	1 lab	03f20df4c3
14:23855558 MYH6 T>G	14	23855558	23855558	T	G	MYH6	c.4925A>C	NM_002471.3	NP_002462.2:p.(Gln1642Pro)	NC_000014.8:g.23855558T>G	VUS	1 lab	03f271c170
12:40748288 LRRK2 A>T	12	40748288	40748288	A	T	LRRK2	c.6764A>T	NM_198578.3	NP_940980.3:p.(Lys2255Met)	NC_000012.11:g.40748288A>T	VUS	1 lab	03f360cd8a
19:12768303 MAN2B1 T>C	19	12768303	12768303	T	C	MAN2B1	c.1376A>G	NM_000528.3	NP_000519.2:p.(Asn459Ser)	NC_000019.9:g.12768303T>C	(Likely) benign	1 lab	03f3b9b294
6:160517613 IGF2R C>T	6	160517613	160517613	C	T	IGF2R	c.6798C>T	NM_000876.3	NP_000867.2:p.(Cys2266=)	NC_000006.11:g.160517613C>T	(Likely) benign	1 lab	03f3ebf618
8:124195359 SACK1A C>T	8	124195359	124195359	C	T	SACK1A	c.263C>T	NM_032899.6	NP_116288.2:p.(Ala88Val)	NC_000008.10:g.124195359C>T	(Likely) benign	1 lab	03f404f52f
X:41203497 DDX3X A>G	X	41203497	41203497	A	G	DDX3X	c.870A>G	NM_001356.4	NP_001347.3:p.(Ser290=)	NC_000023.10:g.41203497A>G	(Likely) benign	1 lab	03f4196c2d
1:1423301 ATAD3B G>A	1	1423301	1423301	G	A	ATAD3B	c.1128+7G>A	NM_001317238.1	NP_001304167.1:p.?	NC_000001.10:g.1423301G>A	(Likely) benign	1 lab	03f80700e6
12:110013957 MVK G>T	12	110013957	110013957	G	T	MVK	c.226+7G>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110013957G>T	(Likely) benign	1 lab	03f8f6e040
2:73114577 SPR G>C	2	73114577	73114577	G	C	SPR	c.16G>C	NM_003124.4	NP_003115.1:p.(Gly6Arg)	NC_000002.11:g.73114577G>C	VUS	1 lab	03f9cada9a
10:17110764 CUBN A>G	10	17110764	17110764	A	G	CUBN	c.2631T>C	NM_001081.3	NP_001072.2:p.(Gly877=)	NC_000010.10:g.17110764A>G	(Likely) benign	1 lab	03ff8d8d5e
13:23908507 SACS G>A	13	23908507	23908507	G	A	SACS	c.9508C>T	NM_014363.5	NP_055178.3:p.(Arg3170Ter)	NC_000013.10:g.23908507G>A	(Likely) pathogenic	1 lab	03ff9b012e
4:122749670 BBS7 G>C	4	122749670	122749670	G	C	BBS7	c.1787-10C>G	NM_176824.2	NP_789794.1:p.?	NC_000004.11:g.122749670G>C	VUS	1 lab	040087901f
16:88495428 ZNF469 G>T	16	88495428	88495428	G	T	ZNF469				NC_000016.9:g.88495428G>T	VUS	1 lab	0401b45711
19:36218440 KMT2B G>A	19	36218440	36218440	G	A	KMT2B	c.4219G>A	NM_014727.3	NP_055542.1:p.(Gly1407Arg)	NC_000019.9:g.36218440G>A	(Likely) benign	1 lab	dfc41c9763
6:157454240 ARID1B A>G	6	157454240	157454240	A	G	ARID1B	c.2411A>G	NM_001346813.1	NP_001333742.1:p.(His804Arg)	NC_000006.11:g.157454240A>G	(Likely) benign	1 lab	0402dfee4f
3:49060516 NDUFAF3 CTG>C	3	49060516	49060521	CTG	C	NDUFAF3	c.470_471del	NM_199069.2	NP_951032.1:p.(Cys157SerfsTer2)	NC_000003.11:g.49060520_49060521del	(Likely) pathogenic	1 lab	0404c6cdf1
12:122845517 CLIP1 G>A	12	122845517	122845517	G	A	CLIP1	c.994C>T	NM_002956.3	NP_002947.1:p.(Arg332Trp)	NC_000012.11:g.122845517G>A	VUS	1 lab	dfc740f7db
2:27456176 CAD G>A	2	27456176	27456176	G	A	CAD	c.2992-4G>A	NM_004341.4	NP_004332.2:p.?	NC_000002.11:g.27456176G>A	(Likely) benign	1 lab	04050c617f
1:228402121 OBSCN A>G	1	228402121	228402121	A	G	OBSCN	c.1505A>G	NM_052843.4	NP_443075.3:p.(Gln502Arg)	NC_000001.10:g.228402121A>G	(Likely) benign	1 lab	dfca318757
12:80632652 OTOGL CTA>C	12	80632652	80632655	CTA	C	OTOGL	c.841_842del	NM_001378609.3	NP_001365538.2:p.(Met281ValfsTer4)	NC_000012.11:g.80632654_80632655del	(Likely) pathogenic	1 lab	04061f2484
1:234744283 IRF2BP2 G>A	1	234744283	234744283	G	A	IRF2BP2	c.958C>T	NM_182972.2	NP_892017.2:p.(Pro320Ser)	NC_000001.10:g.234744283G>A	VUS	1 lab	0431a623e3
9:4585388 SLC1A1 G>C	9	4585388	4585388	G	C	SLC1A1	c.1405G>C	NM_004170.5	NP_004161.4:p.(Glu469Gln)	NC_000009.11:g.4585388G>C	VUS	1 lab	040923c720
5:88057041 MEF2C G>A	5	88057041	88057041	G	A	MEF2C	c.363C>T	NM_002397.4	NP_002388.2:p.(Asn121=)	NC_000005.9:g.88057041G>A	(Likely) benign	1 lab	0409246a35
1:160314585 NCSTN G>A	1	160314585	160314585	G	A	NCSTN	c.99G>A	NM_001290184.1	NP_001277113.1:p.(Leu33=)	NC_000001.10:g.160314585G>A	(Likely) benign	1 lab	040ea68620
1:154995897 DCST2 T>C	1	154995897	154995897	T	C	DCST2	c.1907A>G	NM_144622.3	NP_653223.2:p.(Asn636Ser)	NC_000001.10:g.154995897T>C	VUS	1 lab	040ed75b24
2:179463399 TTN AC>GA	2	179463399	179463400	AC	GA	TTN	c.56963-19_56963-18delinsTC	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179463399_179463400delinsGA	(Likely) benign	1 lab	0412c00983
19:10252789 DNMT1 C>T	19	10252789	10252789	C	T	DNMT1	c.3176G>A	NM_001379.3	NP_001370.1:p.(Arg1059His)	NC_000019.9:g.10252789C>T	(Likely) benign	1 lab	0413b393d1
15:65946296 SLC24A1 C>T	15	65946296	65946296	C	T	SLC24A1	c.3179C>T	NM_004727.2	NP_004718.1:p.(Ala1060Val)	NC_000015.9:g.65946296C>T	VUS	1 lab	04143963ab
19:16606954 CALR3 G>A	19	16606954	16606954	G	A	CALR3	c.-14C>T	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16606954G>A	VUS	1 lab	0414689c5c
16:88497637 ZNF469 G>A	16	88497637	88497637	G	A	ZNF469				NC_000016.9:g.88497637G>A	(Likely) benign	1 lab	0470bdffa5
21:35247711 ITSN1 C>T	21	35247711	35247711	C	T	ITSN1	c.4227C>T	NM_003024.2	NP_003015.2:p.(Ala1409=)	NC_000021.8:g.35247711C>T	(Likely) benign	1 lab	0415984de2
8:74893483 TMEM70 C>T	8	74893483	74893483	C	T	TMEM70	c.410C>T	NM_017866.6	NP_060336.3:p.(Pro137Leu)	NC_000008.10:g.74893483C>T	(Likely) benign	1 lab	0416009dd1
16:2138266 TSC2 C>CG	16	2138266	2138267	C	CG	TSC2	c.5200dup	NM_000548.3	NP_000539.2:p.(Asp1734GlyfsTer41)	NC_000016.9:g.2138267dup	(Likely) pathogenic	1 lab	0418bd4e2c
11:66468051 SPTBN2 G>A	11	66468051	66468051	G	A	SPTBN2	c.3519C>T	NM_006946.3	NP_008877.1:p.(Gly1173=)	NC_000011.9:g.66468051G>A	(Likely) benign	1 lab	0418d56f23
5:150932805 FAT2 A>G	5	150932805	150932805	A	G	FAT2	c.4089T>C	NM_001447.2	NP_001438.1:p.(Pro1363=)	NC_000005.9:g.150932805A>G	(Likely) benign	1 lab	04193e8922
X:57475068 FAAH2 G>A	X	57475068	57475068	G	A	FAAH2	c.1340G>A	NM_174912.3	NP_777572.2:p.(Gly447Asp)	NC_000023.10:g.57475068G>A	VUS	1 lab	04195853c7
10:29824956 SVIL G>A	10	29824956	29824956	G	A	SVIL	c.870C>T	NM_021738.2	NP_068506.2:p.(Ser290=)	NC_000010.10:g.29824956G>A	(Likely) benign	1 lab	041a3c8aef
17:48703435 CACNA1G C>T	17	48703435	48703435	C	T	CACNA1G	c.6457C>T	NM_018896.4	NP_061496.2:p.(Leu2153=)	NC_000017.10:g.48703435C>T	(Likely) benign	1 lab	041ad2e4a9
17:78350164 RNF213 C>T	17	78350164	78350164	C	T	RNF213	c.13249C>T	NM_001256071.2	NP_001243000.2:p.(Arg4417Cys)	NC_000017.10:g.78350164C>T	(Likely) benign	1 lab	041cf071b8
6:33273044 TAPBP G>A	6	33273044	33273044	G	A	TAPBP	c.590C>T	NM_003190.4	NP_003181.3:p.(Pro197Leu)	NC_000006.11:g.33273044G>A	(Likely) benign	1 lab	041dd71e9a
12:2721159 CACNA1C C>T	12	2721159	2721159	C	T	CACNA1C	c.3808C>T	NM_000719.7	NP_000710.5:p.(Leu1270Phe)	NC_000012.11:g.2721159C>T	VUS	1 lab	dfcca5f447
21:46913119 COL18A1 C>G	21	46913119	46913119	C	G	COL18A1	c.3502C>G	NM_130444.3	NP_569711.2:p.(Arg1168Gly)	NC_000021.8:g.46913119C>G	(Likely) benign	1 lab	042218d931
12:133331514 ANKLE2 A>T	12	133331514	133331514	A	T	ANKLE2	c.387T>A	NM_015114.2	NP_055929.1:p.(Ala129=)	NC_000012.11:g.133331514A>T	(Likely) benign	1 lab	042315aa50
22:19950110 COMT G>C	22	19950110	19950110	G	C	COMT	c.61G>C	NM_000754.4	NP_000745.1:p.(Val21Leu)	NC_000022.10:g.19950110G>C	(Likely) benign	1 lab	dfcfabe373
13:103391538 LRTM3 C>T	13	103391538	103391538	C	T	LRTM3	c.11509G>A	NM_001146197.2	NP_001139669.1:p.(Glu3837Lys)	NC_000013.10:g.103391538C>T	VUS	1 lab	0425f378fb
1:150053438 VPS45 C>G	1	150053438	150053438	C	G	VPS45	c.594C>G	NM_001279354.1	NP_001266283.1:p.(Ala198=)	NC_000001.10:g.150053438C>G	(Likely) benign	1 lab	0426c7a531
2:179582272 TTN G>A	2	179582272	179582272	G	A	TTN	c.25329C>T	NM_001267550.1	NP_001254479.1:p.(Ser8443=)	NC_000002.11:g.179582272G>A	(Likely) benign	1 lab	0426cd1de5
17:41053025 G6PC1 C>T	17	41053025	41053025	C	T	G6PC1	c.132C>T	NM_001270397.1	NP_001257326.1:p.(Tyr44=)	NC_000017.10:g.41053025C>T	(Likely) benign	1 lab	0427109045
2:197709279 PGAP1 C>T	2	197709279	197709279	C	T	PGAP1	c.1784G>A	NM_001321099.1	NP_001308028.1:p.(Ser595Asn)	NC_000002.11:g.197709279C>T	(Likely) benign	1 lab	042719f172
1:213031958 FLVCR1 A>T	1	213031958	213031958	A	T	FLVCR1	c.164A>T	NM_014053.3	NP_054772.1:p.(Asp55Val)	NC_000001.10:g.213031958A>T	(Likely) benign	1 lab	0427900cd3
17:18027811 MYO15A C>A	17	18027811	18027811	C	A	MYO15A	c.3624C>A	NM_016239.3	NP_057323.3:p.(Arg1208=)	NC_000017.10:g.18027811C>A	(Likely) benign	1 lab	0428b8324c
10:73111518 SLC29A3 A>G	10	73111518	73111518	A	G	SLC29A3	c.349A>G	NM_001363518.1	NP_001350447.1:p.(Met117Val)	NC_000010.10:g.73111518A>G	VUS	1 lab	0428ea6c84
10:97440243 TCTN3 A>G	10	97440243	97440243	A	G	TCTN3	c.1576T>C	NM_015631.5	NP_056446.4:p.(Cys526Arg)	NC_000010.10:g.97440243A>G	VUS	1 lab	0428ec664d
16:2136382 TSC2 T>A	16	2136382	2136382	T	A	TSC2	c.4849+2T>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136382T>A	(Likely) pathogenic	1 lab	042aacb6f7
2:179426210 TTN A>G	2	179426210	179426210	A	G	TTN	c.84649T>C	NM_001267550.1	NP_001254479.1:p.(Ser28217Pro)	NC_000002.11:g.179426210A>G	VUS	1 lab	042bdb3f47
16:2818191 SRRM2 C>T	16	2818191	2818191	C	T	SRRM2	c.7662C>T	NM_016333.4	NP_057417.3:p.(Ser2554=)	NC_000016.9:g.2818191C>T	(Likely) benign	1 lab	042bfac677
3:120500229 GTF2E1 G>A	3	120500229	120500229	G	A	GTF2E1	c.1232G>A	NM_005513.3	NP_005504.2:p.(Arg411Gln)	NC_000003.11:g.120500229G>A	VUS	1 lab	042c3919a0
1:183079729 LAMC1 C>T	1	183079729	183079729	C	T	LAMC1	c.961C>T	NM_002293.3	NP_002284.3:p.(Pro321Ser)	NC_000001.10:g.183079729C>T	VUS	1 lab	042dca5eaf
10:17271974 VIM C>G	10	17271974	17271974	C	G	VIM	c.553C>G	NM_003380.4	NP_003371.2:p.(Leu185Val)	NC_000010.10:g.17271974C>G	VUS	1 lab	042de8c01a
4:983411 SLC26A1 C>T	4	983411	983411	C	T	SLC26A1	c.1316G>A	NM_213613.4	NP_998778.1:p.(Arg439Gln)	NC_000004.11:g.983411C>T	(Likely) benign	1 lab	dfcfb4eac8
8:61757888 CHD7 C>T	8	61757888	61757888	C	T	CHD7				NC_000008.10:g.61757888C>T	(Likely) benign	1 lab	05a95254f4
3:38591912 SCN5A G>C	3	38591912	38591912	G	C	SCN5A	c.5951C>G	NM_001099404.2	NP_001092874.1:p.(Thr1984Ser)	NC_000003.11:g.38591912G>C	VUS	1 lab	dfd21d9957
1:64624811 ROR1 G>A	1	64624811	64624811	G	A	ROR1	c.1322G>A	NM_005012.3	NP_005003.2:p.(Arg441Lys)	NC_000001.10:g.64624811G>A	VUS	1 lab	04334142cb
19:45312394 BCAM G>T	19	45312394	45312394	G	T	BCAM	c.13G>T	NM_001013257.2	NP_001013275.1:p.(Asp5Tyr)	NC_000019.9:g.45312394G>T	VUS	1 lab	04342318d1
2:179603011 TTN G>T	2	179603011	179603011	G	T	TTN	c.14169C>A	NM_001267550.1	NP_001254479.1:p.(Ile4723=)	NC_000002.11:g.179603011G>T	(Likely) benign	1 lab	0434961491
2:233676068 GIGYF2 G>A	2	233676068	233676068	G	A	GIGYF2	c.2006+7G>A	NM_015575.3	NP_056390.2:p.?	NC_000002.11:g.233676068G>A	(Likely) benign	1 lab	0436dfb10d
2:179546390 TTN T>C	2	179546390	179546390	T	C	TTN	c.33170A>G	NM_001267550.1	NP_001254479.1:p.(Lys11057Arg)	NC_000002.11:g.179546390T>C	VUS	1 lab	0437a21e55
X:153297636 MECP2 G>C	X	153297636	153297636	G	C	MECP2	c.377+22C>G	NM_004992.3	NP_004983.1:p.?	NC_000023.10:g.153297636G>C	(Likely) benign	1 lab	04389dbd51
7:21784037 DNAH11 C>T	7	21784037	21784037	C	T	DNAH11				NC_000007.13:g.21784037C>T	(Likely) benign	1 lab	04396bb443
11:614013 IRF7 A>G	11	614013	614013	A	G	IRF7	c.743T>C	NM_004031.3	NP_004022.2:p.(Leu248Pro)	NC_000011.9:g.614013A>G	(Likely) benign	1 lab	043a179148
8:77620100 ZFHX4 A>C	8	77620100	77620100	A	C	ZFHX4	c.2910A>C	NM_024721.5	NP_078997.4:p.(Lys970Asn)	NC_000008.10:g.77620100A>C	VUS	1 lab	dfd47a02c0
X:54818446 ITIH6 A>G	X	54818446	54818446	A	G	ITIH6	c.281T>C	NM_198510.2	NP_940912.1:p.(Ile94Thr)	NC_000023.10:g.54818446A>G	(Likely) benign	1 lab	043eb988df
16:88724370 MVD C>T	16	88724370	88724370	C	T	MVD	c.209G>A	NM_002461.2	NP_002452.1:p.(Arg70Gln)	NC_000016.9:g.88724370C>T	(Likely) benign	1 lab	043f9fc882
20:42744882 JPH2 G>A	20	42744882	42744882	G	A	JPH2	c.1433C>T	NM_020433.4	NP_065166.2:p.(Pro478Leu)	NC_000020.10:g.42744882G>A	(Likely) benign	1 lab	043feaa66f
2:179527282 TTN T>A	2	179527282	179527282	T	A	TTN	c.36936A>T	NM_001267550.1	NP_001254479.1:p.(Lys12312Asn)	NC_000002.11:g.179527282T>A	VUS	1 lab	0441126df6
9:13188882 MPDZ G>A	9	13188882	13188882	G	A	MPDZ	c.2265C>T	NM_001330637.1	NP_001317566.1:p.(Asn755=)	NC_000009.11:g.13188882G>A	(Likely) benign	1 lab	04412367e8
16:15815347 MYH11 G>A	16	15815347	15815347	G	A	MYH11	c.4531C>T	NM_001040113.1	NP_001035202.1:p.(Arg1511Trp)	NC_000016.9:g.15815347G>A	VUS	1 lab	044130f842
16:2129404 TSC2 GAG>AA	16	2129404	2129406	GAG	AA	TSC2	c.3259_3261delinsAA	NM_000548.3	NP_000539.2:p.(Glu1087AsnfsTer16)	NC_000016.9:g.2129404_2129406delinsAA	(Likely) pathogenic	1 lab	04421b6e9c
9:34649500 GALT G>A	9	34649500	34649500	G	A	GALT	c.998G>A	NM_000155.3	NP_000146.2:p.(Arg333Gln)	NC_000009.11:g.34649500G>A	VUS	1 lab	0443c4d202
10:13322989 PHYH C>T	10	13322989	13322989	C	T	PHYH	c.650G>A	NM_001323080.1	NP_001310009.1:p.(Ser217Asn)	NC_000010.10:g.13322989C>T	(Likely) benign	1 lab	0444d340b4
9:128092418 GAPVD1 T>C	9	128092418	128092418	T	C	GAPVD1	c.2094T>C	NM_001282680.2	NP_001269609.1:p.(Leu698=)	NC_000009.11:g.128092418T>C	(Likely) benign	1 lab	04463d642c
1:10186929 UBE4B C>A	1	10186929	10186929	C	A	UBE4B	c.1632C>A	NM_001105562.3	NP_001099032.1:p.(Pro544=)	NC_000001.10:g.10186929C>A	(Likely) benign	1 lab	0446a5e74d
12:110013829 MVK G>A	12	110013829	110013829	G	A	MVK	c.105G>A	NM_000431.2	NP_000422.1:p.(Leu35=)	NC_000012.11:g.110013829G>A	(Likely) benign	1 lab	0447279566
1:12049283 MFN2 C>T	1	12049283	12049283	C	T	MFN2	c.58C>T	NM_014874.3	NP_055689.1:p.(His20Tyr)	NC_000001.10:g.12049283C>T	(Likely) benign	1 lab	0448789ee7
12:124382360 DNAH10 G>T	12	124382360	124382360	G	T	DNAH10	c.8970G>T	NM_207437.3	NP_997320.2:p.(Val2990=)	NC_000012.11:g.124382360G>T	(Likely) benign	1 lab	044989d06a
1:46495160 MAST2 T>C	1	46495160	46495160	T	C	MAST2	c.1779T>C	NM_001324321.1	NP_001311250.1:p.(Gly593=)	NC_000001.10:g.46495160T>C	(Likely) benign	1 lab	0449edfdcc
9:26984309 IFT74 A>G	9	26984309	26984309	A	G	IFT74	c.360A>G	NM_001099222.2	NP_001092692.1:p.(Glu120=)	NC_000009.11:g.26984309A>G	(Likely) benign	1 lab	044b81deec
3:193409878 OPA1 C>A	3	193409878	193409878	C	A	OPA1	c.3010C>A	NM_130837.2	NP_570850.2:p.(Leu1004Ile)	NC_000003.11:g.193409878C>A	VUS	1 lab	044c60653e
6:123892044 TRDN A>G	6	123892044	123892044	A	G	TRDN	c.232+24T>C	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123892044A>G	(Likely) benign	1 lab	044cb02658
9:135781181 TSC1 CCCACTCTCGT>C	9	135781181	135781192	CCCACTCTCGT	C	TSC1	c.1774_1783del	NM_000368.5	NP_000359.1:p.(Thr592AlafsTer34)	NC_000009.11:g.135781183_135781192del	(Likely) pathogenic	1 lab	044d464c45
15:23608312 GOLGA8S G>T	15	23608312	23608312	G	T	GOLGA8S	c.541G>T	NM_001355465.1	NP_001342394.1:p.(Glu181Ter)	NC_000015.9:g.23608312G>T	VUS	1 lab	044e1198f1
12:6457277 SCNN1A C>T	12	6457277	6457277	C	T	SCNN1A	c.1949G>A	NM_001159576.1	NP_001153048.1:p.(Arg650Gln)	NC_000012.11:g.6457277C>T	VUS	1 lab	044e520fd7
1:94643543 ARHGAP29 A>G	1	94643543	94643543	A	G	ARHGAP29	c.2661T>C	NM_004815.4	NP_004806.3:p.(Asp887=)	NC_000001.10:g.94643543A>G	(Likely) benign	1 lab	044e797f06
7:104750954 KMT2E C>T	7	104750954	104750954	C	T	KMT2E	c.3875C>T	NM_182931.2	NP_891847.1:p.(Pro1292Leu)	NC_000007.13:g.104750954C>T	(Likely) benign	1 lab	044ece4191
X:68725851 NALF2 G>A	X	68725851	68725851	G	A	NALF2	c.726G>A	NM_015686.2	NP_056501.2:p.(Ala242=)	NC_000023.10:g.68725851G>A	(Likely) benign	1 lab	0451a04086
20:10393997 MKKS T>C	20	10393997	10393997	T	C	MKKS	c.166A>G	NM_018848.3	NP_061336.1:p.(Thr56Ala)	NC_000020.10:g.10393997T>C	VUS	1 lab	0451e6a77f
10:72358265 PRF1 G>A	10	72358265	72358265	G	A	PRF1	c.1212C>T	NM_001083116.1	NP_001076585.1:p.(Thr404=)	NC_000010.10:g.72358265G>A	(Likely) benign	1 lab	0453840daf
1:27121604 PIGV G>A	1	27121604	27121604	G	A	PIGV	c.1079G>A	NM_001202554.1	NP_001189483.1:p.(Arg360Lys)	NC_000001.10:g.27121604G>A	(Likely) benign	1 lab	0454a2cffa
19:17487901 PLVAP C>T	19	17487901	17487901	C	T	PLVAP	c.197G>A	NM_031310.3	NP_112600.1:p.(Arg66Gln)	NC_000019.9:g.17487901C>T	(Likely) benign	1 lab	04562d7cbf
14:68282578 ZFYVE26 AT>A	14	68282578	68282579	AT	A	ZFYVE26	c.102del	NM_015346.4	NP_056161.2:p.(Cys35ValfsTer16)	NC_000014.8:g.68282579del	(Likely) pathogenic	1 lab	0456d3c37b
2:74074849 STAMBP G>T	2	74074849	74074849	G	T	STAMBP	c.711G>T	NM_006463.6	NP_006454.1:p.(Leu237Phe)	NC_000002.11:g.74074849G>T	VUS	1 lab	dfd7fe6451
19:15291812 NOTCH3 C>T	19	15291812	15291812	C	T	NOTCH3	c.2954G>A	NM_000435.2	NP_000426.2:p.(Arg985His)	NC_000019.9:g.15291812C>T	VUS	1 lab	0457d94f49
1:172635132 FASLG G>A	1	172635132	172635132	G	A	FASLG	c.822G>A	NM_000639.1	NP_000630.1:p.(Thr274=)	NC_000001.10:g.172635132G>A	(Likely) benign	1 lab	0458ceb0af
17:41246508 BRCA1 A>T	17	41246508	41246508	A	T	BRCA1	c.1040T>A	NM_007294.3	NP_009225.1:p.(Leu347Gln)	NC_000017.10:g.41246508A>T	VUS	1 lab	045902b93b
16:50757241 NOD2 G>T	16	50757241	50757241	G	T	NOD2	c.2828G>T	NM_022162.1	NP_071445.1:p.(Gly943Val)	NC_000016.9:g.50757241G>T	VUS	1 lab	0459afd4d4
13:77900835 MYCBP2 C>G	13	77900835	77900835	C	G	MYCBP2	c.76G>C	NM_015057.4	NP_055872.4:p.(Ala26Pro)	NC_000013.10:g.77900835C>G	(Likely) benign	1 lab	045bfc6aae
11:36614645 RAG2 C>T	11	36614645	36614645	C	T	RAG2	c.1074G>A	NM_001243786.1	NP_001230715.1:p.(Glu358=)	NC_000011.9:g.36614645C>T	(Likely) benign	1 lab	045c23c78b
7:19156519 TWIST1 C>G	7	19156519	19156519	C	G	TWIST1	c.426G>C	NM_000474.3	NP_000465.1:p.(Lys142Asn)	NC_000007.13:g.19156519C>G	VUS	1 lab	045c597682
1:110230837 GSTM1 T>C	1	110230837	110230837	T	C	GSTM1	c.82T>C	NM_000561.3	NP_000552.2:p.(Tyr28His)	NC_000001.10:g.110230837T>C	VUS	1 lab	045c7aeeb3
17:73492158 TMEM94 C>G	17	73492158	73492158	C	G	TMEM94	c.3065+3C>G	NM_001321149.1	NP_001308078.1:p.?	NC_000017.10:g.73492158C>G	VUS	1 lab	045dd107c0
13:110857907 COL4A1 G>A	13	110857907	110857907	G	A	COL4A1	c.859-22C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110857907G>A	(Likely) benign	1 lab	045e4a0393
10:104596985 CYP17A1 C>T	10	104596985	104596985	C	T	CYP17A1	c.134G>A	NM_000102.3	NP_000093.1:p.(Arg45Lys)	NC_000010.10:g.104596985C>T	(Likely) benign	1 lab	045e68081c
17:27067552 NEK8 G>C	17	27067552	27067552	G	C	NEK8	c.1489G>C	NM_178170.3	NP_835464.1:p.(Ala497Pro)	NC_000017.10:g.27067552G>C	VUS	1 lab	0461b1fb33
14:102506646 DYNC1H1 C>T	14	102506646	102506646	C	T	DYNC1H1	c.11764C>T	NM_001376.4	NP_001367.2:p.(Pro3922Ser)	NC_000014.8:g.102506646C>T	VUS	1 lab	0461fbbd85
19:54314540 NLRP12 G>T	19	54314540	54314540	G	T	NLRP12	c.373C>A	NM_144687.4	NP_653288.1:p.(Pro125Thr)	NC_000019.9:g.54314540G>T	VUS	1 lab	dfdc6c521b
17:20358690 LGALS9B G>A	17	20358690	20358690	G	A	LGALS9B	c.466C>T	NM_001367292.1	NP_001354221.1:p.(Gln156Ter)	NC_000017.10:g.20358690G>A	VUS	1 lab	0463a70504
1:93300404 RPL5 T>A	1	93300404	93300404	T	A	RPL5	c.258T>A	NM_000969.5	NP_000960.2:p.(Tyr86Ter)	NC_000001.10:g.93300404T>A	(Likely) pathogenic	1 lab	dfdf0f42dc
15:42143327 SPTBN5 G>C	15	42143327	42143327	G	C	SPTBN5	c.10765C>G	NM_016642.4	NP_057726.4:p.(Leu3589Val)	NC_000015.9:g.42143327G>C	VUS	1 lab	0467bb056d
X:153297915 MECP2 C>T	X	153297915	153297915	C	T	MECP2	c.120G>A	NM_004992.3	NP_004983.1:p.(Glu40=)	NC_000023.10:g.153297915C>T	(Likely) benign	1 lab	0468836018
19:42795054 CIC G>A	19	42795054	42795054	G	A	CIC	c.4861G>A	NM_001304815.1	NP_001291744.1:p.(Gly1621Ser)	NC_000019.9:g.42795054G>A	(Likely) benign	1 lab	046a1d14bb
3:142217537 ATR A>G	3	142217537	142217537	A	G	ATR	c.5460T>C	NM_001184.3	NP_001175.2:p.(Tyr1820=)	NC_000003.11:g.142217537A>G	(Likely) benign	1 lab	046e542d89
2:73747090 ALMS1 A>G	2	73747090	73747090	A	G	ALMS1	c.9731A>G	NM_015120.4	NP_055935.4:p.(Lys3244Arg)	NC_000002.11:g.73747090A>G	VUS	1 lab	046e8de83e
11:8117053 TUB G>A	11	8117053	8117053	G	A	TUB	c.571G>A	NM_003320.4	NP_003311.2:p.(Gly191Arg)	NC_000011.9:g.8117053G>A	VUS	1 lab	04705c5205
17:29527583 NF1 A>G	17	29527583	29527583	A	G	NF1	c.1032A>G	NM_000267.3	NP_000258.1:p.(Leu344=)	NC_000017.10:g.29527583A>G	(Likely) benign	1 lab	04756bbd05
1:980628 AGRN C>A	1	980628	980628	C	A	AGRN	c.2342C>A	NM_001305275.2	NP_001292204.1:p.(Ala781Asp)	NC_000001.10:g.980628C>A	VUS	1 lab	04789de9b4
7:117432269 CTTNBP2 A>G	7	117432269	117432269	A	G	CTTNBP2	c.981T>C	NM_033427.2	NP_219499.1:p.(Pro327=)	NC_000007.13:g.117432269A>G	(Likely) benign	1 lab	0479d68574
9:135778036 TSC1 G>A	9	135778036	135778036	G	A	TSC1	c.2347C>T	NM_000368.4	NP_000359.1:p.(Gln783Ter)	NC_000009.11:g.135778036G>A	(Likely) pathogenic	1 lab	047ac7c276
7:2629538 IQCE CA>C	7	2629538	2629539	CA	C	IQCE	c.1045-2del	NM_152558.5	NP_689771.3:p.?	NC_000007.13:g.2629539del	(Likely) pathogenic	1 lab	047b8f76ac
16:46697067 VPS35 T>A	16	46697067	46697067	T	A	VPS35	c.1655A>T	NM_018206.5	NP_060676.2:p.(Lys552Ile)	NC_000016.9:g.46697067T>A	VUS	1 lab	047c885a3e
4:96045041 BMPR1B T>C	4	96045041	96045041	T	C	BMPR1B	c.430T>C	NM_001203.2	NP_001194.1:p.(Leu144=)	NC_000004.11:g.96045041T>C	(Likely) benign	1 lab	047cf4a7f7
20:61041540 GATA5 C>T	20	61041540	61041540	C	T	GATA5	c.767G>A	NM_080473.4	NP_536721.1:p.(Arg256Gln)	NC_000020.10:g.61041540C>T	VUS	1 lab	047e21f2ac
12:88465156 CEP290 C>G	12	88465156	88465156	C	G	CEP290	c.5926G>C	NM_025114.3	NP_079390.3:p.(Gly1976Arg)	NC_000012.11:g.88465156C>G	VUS	1 lab	047e6b4fa6
1:156035717 RAB25 A>G	1	156035717	156035717	A	G	RAB25	c.59A>G	NM_020387.4	NP_065120.2:p.(Glu20Gly)	NC_000001.10:g.156035717A>G	(Likely) benign	1 lab	048112f512
5:156533644 HAVCR2 T>C	5	156533644	156533644	T	C	HAVCR2	c.388A>G	NM_032782.4	NP_116171.3:p.(Lys130Glu)	NC_000005.9:g.156533644T>C	(Likely) benign	1 lab	048383ca02
6:72967952 RIMS1 G>A	6	72967952	72967952	G	A	RIMS1	c.2895G>A	NM_014989.5	NP_055804.2:p.(Pro965=)	NC_000006.11:g.72967952G>A	(Likely) benign	1 lab	0483c7f804
4:8229878 SH3TC1 C>T	4	8229878	8229878	C	T	SH3TC1	c.2229C>T	NM_001318480.1	NP_001305409.1:p.(Ala743=)	NC_000004.11:g.8229878C>T	(Likely) benign	1 lab	048401ddc9
X:50147183 DGKK C>G	X	50147183	50147183	C	G	DGKK	c.943-1G>C	NM_001013742.3	NP_001013764.1:p.?	NC_000023.10:g.50147183C>G	VUS	1 lab	04858600f9
11:6541042 DNHD1 CTTGGAA>C	11	6541042	6541048	CTTGGAA	C	DNHD1	c.1606_1611del	NM_144666.3	NP_653267.2:p.(Leu536_Glu537del)	NC_000011.9:g.6541043_6541048del	VUS	1 lab	0488007808
12:57602909 LRP1 C>T	12	57602909	57602909	C	T	LRP1	c.12189C>T	NM_002332.2	NP_002323.2:p.(Asp4063=)	NC_000012.11:g.57602909C>T	(Likely) benign	1 lab	048867fe37
11:119213348 MFRP C>T	11	119213348	119213348	C	T	MFRP	c.1345G>A	NM_031433.3	NP_113621.1:p.(Gly449Ser)	NC_000011.9:g.119213348C>T	(Likely) benign	1 lab	0488f10474
10:135213094 MTG1 A>G	10	135213094	135213094	A	G	MTG1	c.482A>G	NM_138384.4	NP_612393.2:p.(Asn161Ser)	NC_000010.10:g.135213094A>G	VUS	1 lab	048abee51c
1:24417428 MYOM3 G>A	1	24417428	24417428	G	A	MYOM3	c.1291C>T	NM_152372.4	NP_689585.3:p.(Arg431Trp)	NC_000001.10:g.24417428G>A	VUS	1 lab	048c0416b9
2:152536498 NEB T>A	2	152536498	152536498	T	A	NEB	c.3081A>T	NM_001271208.2	NP_001258137.2:p.(Lys1027Asn)	NC_000002.11:g.152536498T>A	(Likely) benign	1 lab	dfe42c701b
2:241531477 CAPN10 C>A	2	241531477	241531477	C	A	CAPN10	c.598C>A	NM_023083.3	NP_075571.1:p.(Pro200Thr)	NC_000002.11:g.241531477C>A	(Likely) benign	1 lab	048d586875
1:17314855 ATP13A2 C>T	1	17314855	17314855	C	T	ATP13A2	c.2709G>A	NM_001141973.2	NP_001135445.1:p.(Ser903=)	NC_000001.10:g.17314855C>T	(Likely) benign	1 lab	048e353afe
8:95658495 ESRP1 G>A	8	95658495	95658495	G	A	ESRP1	c.475G>A	NM_017697.4	NP_060167.2:p.(Ala159Thr)	NC_000008.10:g.95658495G>A	(Likely) benign	1 lab	0490b5ced6
9:382536 DOCK8 C>T	9	382536	382536	C	T	DOCK8	c.2629C>T	NM_203447.3	NP_982272.2:p.(Pro877Ser)	NC_000009.11:g.382536C>T	(Likely) benign	1 lab	0490c02f89
9:101891383 TGFBR1 G>A	9	101891383	101891383	G	A	TGFBR1	c.343+1G>A	NM_004612.3	NP_004603.1:p.?	NC_000009.11:g.101891383G>A	(Likely) pathogenic	1 lab	0491866298
5:140954652 DIAPH1 T>C	5	140954652	140954652	T	C	DIAPH1	c.1523A>G	NM_005219.5	NP_005210.3:p.(Asp508Gly)	NC_000005.9:g.140954652T>C	VUS	1 lab	dfe467244a
15:25616136 UBE3A T>C	15	25616136	25616136	T	C	UBE3A	c.1194A>G	NM_000462.5	NP_000453.2:p.(Glu398=)	NC_000015.9:g.25616136T>C	(Likely) benign	1 lab	0492124422
X:70679509 TAF1 T>A	X	70679509	70679509	T	A	TAF1	c.5238T>A	NM_001286074.1	NP_001273003.1:p.(Asp1746Glu)	NC_000023.10:g.70679509T>A	VUS	1 lab	0493d7af9a
19:51171063 SHANK1 T>C	19	51171063	51171063	T	C	SHANK1	c.4154A>G	NM_016148.5	NP_057232.2:p.(Tyr1385Cys)	NC_000019.9:g.51171063T>C	VUS	1 lab	dff4e24a84
5:176832799 F12 T>C	5	176832799	176832799	T	C	F12	c.223A>G	NM_000505.4	NP_000496.2:p.(Thr75Ala)	NC_000005.9:g.176832799T>C	VUS	1 lab	dff63af4bf
1:1273376 DVL1 G>C	1	1273376	1273376	G	C	DVL1	c.1695C>G	NM_001330311.2	NP_001317240.1:p.(Thr565=)	NC_000001.10:g.1273376G>C	(Likely) benign	1 lab	049afbdd2c
19:2111791 AP3D1 C>T	19	2111791	2111791	C	T	AP3D1	c.2824G>A	NM_001261826.3	NP_001248755.1:p.(Glu942Lys)	NC_000019.9:g.2111791C>T	(Likely) benign	1 lab	049c1d61c0
15:43901491 STRC A>C	15	43901491	43901491	A	C	STRC	c.3540T>G	NM_153700.2	NP_714544.1:p.(Leu1180=)	NC_000015.9:g.43901491A>C	(Likely) benign	1 lab	049c4a0c04
12:112939961 PTPN11 A>G	12	112939961	112939961	A	G	PTPN11	c.1613A>G	NM_002834.3	NP_002825.3:p.(Lys538Arg)	NC_000012.11:g.112939961A>G	(Likely) benign	1 lab	049ef99d71
18:11881044 GNAL C>T	18	11881044	11881044	C	T	GNAL	c.1287C>T	NM_182978.3	NP_892023.1:p.(Cys429=)	NC_000018.9:g.11881044C>T	(Likely) benign	1 lab	049f198d68
6:28227362 NKAPL G>A	6	28227362	28227362	G	A	NKAPL	c.213G>A	NM_001007531.2	NP_001007532.1:p.(Ser71=)	NC_000006.11:g.28227362G>A	(Likely) benign	1 lab	04a20ac7aa
1:152286864 FLG A>C	1	152286864	152286864	A	C	FLG	c.498T>G	NM_002016.1	NP_002007.1:p.(Pro166=)	NC_000001.10:g.152286864A>C	(Likely) benign	1 lab	04a227c23d
17:17942288 ATPAF2 G>C	17	17942288	17942288	G	C	ATPAF2	c.40C>G	NM_145691.3	NP_663729.1:p.(Arg14Gly)	NC_000017.10:g.17942288G>C	(Likely) benign	1 lab	04a3199cd2
8:6302304 MCPH1 T>C	8	6302304	6302304	T	C	MCPH1	c.1061T>C	NM_024596.4	NP_078872.2:p.(Val354Ala)	NC_000008.10:g.6302304T>C	(Likely) benign	1 lab	04a4045d62
2:51253562 NRXN1 T>C	2	51253562	51253562	T	C	NRXN1	c.818A>G	NM_001135659.2	NP_001129131.1:p.(Asp273Gly)	NC_000002.11:g.51253562T>C	(Likely) benign	1 lab	04a894dcbb
X:118221351 KIAA1210 G>A	X	118221351	118221351	G	A	KIAA1210	c.3842C>T	NM_020721.1	NP_065772.1:p.(Ala1281Val)	NC_000023.10:g.118221351G>A	(Likely) benign	1 lab	04a8ab1682
4:79328977 FRAS1 C>T	4	79328977	79328977	C	T	FRAS1	c.4290C>T	NM_025074.7	NP_079350.5:p.(Ser1430=)	NC_000004.11:g.79328977C>T	(Likely) benign	1 lab	04aa6a6fff
7:87173519 ABCB1 C>T	7	87173519	87173519	C	T	ABCB1	c.2137G>A	NM_000927.5	NP_000918.2:p.(Val713Ile)	NC_000007.13:g.87173519C>T	VUS	1 lab	dff9ad492c
20:62195457 HELZ2 C>T	20	62195457	62195457	C	T	HELZ2	c.4718G>A	NM_001037335.2	NP_001032412.2:p.(Arg1573Gln)	NC_000020.10:g.62195457C>T	(Likely) benign	1 lab	04ae38853a
16:79632904 MAF C>G	16	79632904	79632904	C	G	MAF	c.896G>C	NM_001031804.2	NP_001026974.1:p.(Arg299Pro)	NC_000016.9:g.79632904C>G	VUS	1 lab	04af97e385
16:11001785 CIITA C>T	16	11001785	11001785	C	T	CIITA	c.2439C>T	NM_001286402.1	NP_001273331.1:p.(Cys813=)	NC_000016.9:g.11001785C>T	(Likely) benign	1 lab	04afd2fd81
X:48895915 TFE3 C>T	X	48895915	48895915	C	T	TFE3	c.587G>A	NM_006521.6	NP_006512.2:p.(Arg196Gln)	NC_000023.10:g.48895915C>T	VUS	1 lab	dffc9711c1
6:33144080 COL11A2 C>A	6	33144080	33144080	C	A	COL11A2	c.2170G>T	NM_080680.2	NP_542411.2:p.(Gly724Cys)	NC_000006.11:g.33144080C>A	(Likely) pathogenic	1 lab	04b2cad13f
19:48631203 LIG1 G>C	19	48631203	48631203	G	C	LIG1	c.1893C>G	NM_001320970.1	NP_001307899.1:p.(Ile631Met)	NC_000019.9:g.48631203G>C	VUS	1 lab	04b2f709b4
X:63411271 AMER1 C>T	X	63411271	63411271	C	T	AMER1	c.1896G>A	NM_152424.4	NP_689637.3:p.(Glu632=)	NC_000023.10:g.63411271C>T	(Likely) benign	1 lab	04b38207ef
2:179614574 TTN C>T	2	179614574	179614574	C	T	TTN	c.12553G>A	NM_133379.4	NP_596870.2:p.(Glu4185Lys)	NC_000002.11:g.179614574C>T	VUS	1 lab	04b5255b16
3:170781677 TNIK TTCA>T	3	170781677	170781684	TTCA	T	TNIK	c.4073_4075del	NM_015028.4	NP_055843.1:p.(Met1358del)	NC_000003.11:g.170781682_170781684del	VUS	1 lab	04b5e4e560
8:42188489 IKBKB G>T	8	42188489	42188489	G	T	IKBKB	c.2086G>T	NM_001242778.1	NP_001229707.1:p.(Ala696Ser)	NC_000008.10:g.42188489G>T	(Likely) benign	1 lab	04b678d5f5
5:94820481 SKIC3 T>C	5	94820481	94820481	T	C	SKIC3	c.4000A>G	NM_014639.3	NP_055454.1:p.(Thr1334Ala)	NC_000005.9:g.94820481T>C	(Likely) benign	1 lab	04b81fe177
20:50401063 SALL4 A>C	20	50401063	50401063	A	C	SALL4	c.2903T>G	NM_020436.5	NP_065169.1:p.(Val968Gly)	NC_000020.10:g.50401063A>C	VUS	1 lab	dffd2908a2
10:21141510 NEBL A>G	10	21141510	21141510	A	G	NEBL	c.972T>C	NM_006393.2	NP_006384.1:p.(His324=)	NC_000010.10:g.21141510A>G	(Likely) benign	1 lab	04b9d71dae
20:2442460 SNRPB TC>T	20	2442460	2442463	TC	T	SNRPB	c.*114del	NM_003091.4	NP_003082.1:p.?	NC_000020.10:g.2442463del	VUS	1 lab	dffe9a5b6c
16:50828194 CYLD G>A	16	50828194	50828194	G	A	CYLD	c.2541G>A	NM_015247.2	NP_056062.1:p.(Trp847Ter)	NC_000016.9:g.50828194G>A	(Likely) pathogenic	1 lab	04beacb501
1:158615013 SPTA1 G>A	1	158615013	158615013	G	A	SPTA1	c.4159C>T	NM_003126.3	NP_003117.2:p.(Arg1387Cys)	NC_000001.10:g.158615013G>A	VUS	1 lab	04c05b1487
11:59620743 TCN1 G>A	11	59620743	59620743	G	A	TCN1	c.1173C>T	NM_001062.4	NP_001053.2:p.(Gly391=)	NC_000011.9:g.59620743G>A	(Likely) benign	1 lab	04c1269ede
19:8651475 ADAMTS10 G>A	19	8651475	8651475	G	A	ADAMTS10	c.2370C>T	NM_030957.3	NP_112219.3:p.(Ala790=)	NC_000019.9:g.8651475G>A	(Likely) benign	1 lab	04c42e2c88
16:53679893 RPGRIP1L G>C	16	53679893	53679893	G	C	RPGRIP1L	c.2327C>G	NM_015272.4	NP_056087.2:p.(Thr776Ser)	NC_000016.9:g.53679893G>C	(Likely) benign	1 lab	04c54e2365
1:156834553 NTRK1 G>T	1	156834553	156834553	G	T	NTRK1	c.321G>T	NM_002529.3	NP_002520.2:p.(Ala107=)	NC_000001.10:g.156834553G>T	(Likely) benign	1 lab	04c557e07d
18:28662984 DSC2 C>CCATG	18	28662984	28662988	C	CCATG	DSC2	c.981_984dup	NM_024422.4	NP_077740.1:p.(Asp329HisfsTer17)	NC_000018.9:g.28662985_28662988dup	(Likely) pathogenic	1 lab	04c7fc055d
20:30946638 ASXL1 G>C	20	30946638	30946638	G	C	ASXL1	c.57+3G>C	NM_015338.6	NP_056153.2:p.?	NC_000020.10:g.30946638G>C	(Likely) benign	1 lab	e0004d7fe9
2:179516667 TTN A>G	2	179516667	179516667	A	G	TTN	c.39323T>C	NM_001267550.1	NP_001254479.1:p.(Leu13108Pro)	NC_000002.11:g.179516667A>G	VUS	1 lab	04c8914aaa
8:100844858 VPS13B C>A	8	100844858	100844858	C	A	VPS13B	c.9667C>A	NM_017890.4	NP_060360.3:p.(Arg3223=)	NC_000008.10:g.100844858C>A	(Likely) benign	1 lab	04c8f28166
1:103453227 COL11A1 T>C	1	103453227	103453227	T	C	COL11A1	c.2500A>G	NM_080629.2	NP_542196.2:p.(Thr834Ala)	NC_000001.10:g.103453227T>C	(Likely) benign	1 lab	04c933e2c0
7:74197342 NCF1 C>T	7	74197342	74197342	C	T	NCF1	c.512C>T	NM_000265.5	NP_000256.4:p.(Ser171Leu)	NC_000007.13:g.74197342C>T	VUS	1 lab	04caa8bff2
1:22202109 HSPG2 C>T	1	22202109	22202109	C	T	HSPG2	c.3302+13G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22202109C>T	(Likely) benign	1 lab	e000a96f64
13:32954224 BRCA2 GC>G	13	32954224	32954226	GC	G	BRCA2	c.9200del	NM_000059.4	NP_000050.3:p.(Pro3067HisfsTer8)	NC_000013.10:g.32954226del	(Likely) pathogenic	1 lab	04cb2445f2
1:110086941 GPR61 G>A	1	110086941	110086941	G	A	GPR61	c.1297G>A	NM_031936.4	NP_114142.3:p.(Asp433Asn)	NC_000001.10:g.110086941G>A	VUS	1 lab	04cbab1d76
12:40707886 LRRK2 G>T	12	40707886	40707886	G	T	LRRK2	c.4649G>T	NM_198578.3	NP_940980.3:p.(Arg1550Leu)	NC_000012.11:g.40707886G>T	(Likely) benign	1 lab	04cccf060b
16:142602 NPRL3 C>A	16	142602	142602	C	A	NPRL3	c.1153G>T	NM_001077350.2	NP_001070818.1:p.(Val385Leu)	NC_000016.9:g.142602C>A	(Likely) benign	1 lab	04ccd1915a
12:49435089 KMT2D G>A	12	49435089	49435089	G	A	KMT2D	c.6464C>T	NM_003482.3	NP_003473.3:p.(Ser2155Leu)	NC_000012.11:g.49435089G>A	(Likely) benign	1 lab	04cd1ffcab
X:110963377 ALG13 T>G	X	110963377	110963377	T	G	ALG13	c.1071T>G	NM_001257231.1	NP_001244160.1:p.(Asn357Lys)	NC_000023.10:g.110963377T>G	(Likely) benign	1 lab	04cd5767dc
21:46899824 COL18A1 C>T	21	46899824	46899824	C	T	COL18A1	c.1257C>T	NM_130445.2	NP_569712.2:p.(Thr419=)	NC_000021.8:g.46899824C>T	(Likely) benign	1 lab	04ce30c953
17:15903274 TTC19 C>A	17	15903274	15903274	C	A	TTC19	c.112C>A	NM_017775.3	NP_060245.3:p.(Pro38Thr)	NC_000017.10:g.15903274C>A	(Likely) benign	1 lab	04d72d07b9
15:71953003 THSD4 C>T	15	71953003	71953003	C	T	THSD4	c.1287C>T	NM_024817.2	NP_079093.2:p.(Arg429=)	NC_000015.9:g.71953003C>T	(Likely) benign	1 lab	04d7a2b7ee
X:152966415 BCAP31 G>A	X	152966415	152966415	G	A	BCAP31	c.919C>T	NM_001139457.2	NP_001132929.1:p.(Pro307Ser)	NC_000023.10:g.152966415G>A	(Likely) benign	1 lab	04d7fa9ba6
1:112524250 KCND3 T>C	1	112524250	112524250	T	C	KCND3	c.1099A>G	NM_004980.4	NP_004971.2:p.(Thr367Ala)	NC_000001.10:g.112524250T>C	VUS	1 lab	04d97e0af5
7:4823007 AP5Z1 C>T	7	4823007	4823007	C	T	AP5Z1	c.427C>T	NM_014855.3	NP_055670.1:p.(Arg143Trp)	NC_000007.13:g.4823007C>T	VUS	1 lab	04da2ffcc8
2:179474559 TTN G>C	2	179474559	179474559	G	C	TTN	c.51591C>G	NM_001267550.1	NP_001254479.1:p.(Cys17197Trp)	NC_000002.11:g.179474559G>C	VUS	1 lab	04daf13d2c
10:76603075 KAT6B C>G	10	76603075	76603075	C	G	KAT6B	c.460C>G	NM_012330.4	NP_036462.2:p.(Leu154Val)	NC_000010.10:g.76603075C>G	VUS	1 lab	e005fa718c
3:197401946 RUBCN G>A	3	197401946	197401946	G	A	RUBCN	c.2727C>T	NM_001145642.4	NP_001139114.1:p.(Tyr909=)	NC_000003.11:g.197401946G>A	(Likely) benign	1 lab	04dbd265da
X:140984722 MAGEC3 A>C	X	140984722	140984722	A	C	MAGEC3	c.1178A>C	NM_138702.1	NP_619647.1:p.(Glu393Ala)	NC_000023.10:g.140984722A>C	(Likely) benign	1 lab	04e0107b24
14:94844975 SERPINA1 G>A	14	94844975	94844975	G	A	SERPINA1	c.1068C>T	NM_000295.4	NP_000286.3:p.(Ala356=)	NC_000014.8:g.94844975G>A	(Likely) benign	1 lab	04e028e4c5
9:441407 DOCK8 T>C	9	441407	441407	T	C	DOCK8	c.5345T>C	NM_203447.3	NP_982272.2:p.(Ile1782Thr)	NC_000009.11:g.441407T>C	VUS	1 lab	04e0581d0e
16:1412657 GNPTG TTAAAGACCCCAGAAGAAAA>T	16	1412657	1412677	TTAAAGACCCCAGAAGAAAA	T	GNPTG	c.657_675del	NM_032520.5	NP_115909.1:p.(Lys220AsnfsTer34)	NC_000016.9:g.1412659_1412677del	(Likely) pathogenic	1 lab	04e147af05
17:73739911 ITGB4 G>A	17	73739911	73739911	G	A	ITGB4	c.3080G>A	NM_000213.4	NP_000204.3:p.(Arg1027His)	NC_000017.10:g.73739911G>A	VUS	1 lab	04e1f1b85a
X:153171401 AVPR2 G>A	X	153171401	153171401	G	A	AVPR2	c.441G>A	NM_001146151.2	NP_001139623.1:p.(Ala147=)	NC_000023.10:g.153171401G>A	(Likely) benign	1 lab	04e3d8c59e
4:628493 PDE6B G>A	4	628493	628493	G	A	PDE6B	c.496G>A	NM_000283.3	NP_000274.2:p.(Glu166Lys)	NC_000004.11:g.628493G>A	(Likely) benign	1 lab	04e4d69b33
X:77225057 PGAM4 C>T	X	77225057	77225057	C	T	PGAM4	c.79G>A	NM_001029891.2	NP_001025062.1:p.(Asp27Asn)	NC_000023.10:g.77225057C>T	(Likely) benign	1 lab	04e5077d47
3:52661345 PBRM1 G>A	3	52661345	52661345	G	A	PBRM1	c.1485C>T	NM_018313.4	NP_060783.3:p.(Asp495=)	NC_000003.11:g.52661345G>A	(Likely) benign	1 lab	04e613dc5c
11:71819657 LRTOMT C>T	11	71819657	71819657	C	T	LRTOMT	c.562C>T	NM_001145309.3	NP_001138781.1:p.(Leu188Phe)	NC_000011.9:g.71819657C>T	VUS	1 lab	04e74a90b1
15:63953978 HERC1 G>A	15	63953978	63953978	G	A	HERC1	c.9144C>T	NM_003922.3	NP_003913.3:p.(Thr3048=)	NC_000015.9:g.63953978G>A	(Likely) benign	1 lab	04e848e353
5:55155402 IL31RA C>T	5	55155402	55155402	C	T	IL31RA	c.72C>T	NM_001242638.2	NP_001229567.1:p.(Pro24=)	NC_000005.9:g.55155402C>T	(Likely) benign	1 lab	e00aa5747c
14:91744460 CCDC88C T>C	14	91744460	91744460	T	C	CCDC88C	c.4864A>G	NM_001080414.3	NP_001073883.2:p.(Thr1622Ala)	NC_000014.8:g.91744460T>C	(Likely) benign	1 lab	04ea32da8d
5:65344585 ERBIN G>A	5	65344585	65344585	G	A	ERBIN	c.1879G>A	NM_001253699.1	NP_001240628.1:p.(Val627Ile)	NC_000005.9:g.65344585G>A	(Likely) benign	1 lab	04ea7b298e
11:17579748 OTOG C>T	11	17579748	17579748	C	T	OTOG	c.918C>T	NM_001277269.1	NP_001264198.1:p.(Asp306=)	NC_000011.9:g.17579748C>T	(Likely) benign	1 lab	04ee3195c5
X:153035901 PLXNB3 C>T	X	153035901	153035901	C	T	PLXNB3	c.1964C>T	NM_001163257.1	NP_001156729.1:p.(Pro655Leu)	NC_000023.10:g.153035901C>T	VUS	1 lab	04f10a6ac2
X:135581808 HTATSF1 G>T	X	135581808	135581808	G	T	HTATSF1	c.238G>T	NM_001163280.1	NP_001156752.1:p.(Asp80Tyr)	NC_000023.10:g.135581808G>T	VUS	1 lab	04f1680a8b
X:50376788 SHROOM4 C>G	X	50376788	50376788	C	G	SHROOM4	c.2285G>C	NM_020717.3	NP_065768.2:p.(Gly762Ala)	NC_000023.10:g.50376788C>G	VUS	1 lab	04f23d6b01
X:17750053 NHS C>CAGT	X	17750053	17750058	C	CAGT	NHS	c.4428_4430dup	NM_001291867.1	NP_001278796.1:p.(Ser1480dup)	NC_000023.10:g.17750056_17750058dup	VUS	1 lab	04f2db75cd
12:70988479 PTPRB A>G	12	70988479	70988479	A	G	PTPRB	c.1284T>C	NM_001109754.3	NP_001103224.1:p.(Gly428=)	NC_000012.11:g.70988479A>G	(Likely) benign	1 lab	04f313be1c
X:153590030 FLNA C>G	X	153590030	153590030	C	G	FLNA	c.2944+8G>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153590030C>G	(Likely) benign	1 lab	04f49607d3
X:7811911 VCX G>A	X	7811911	7811911	G	A	VCX	c.475G>A	NM_013452.2	NP_038480.2:p.(Glu159Lys)	NC_000023.10:g.7811911G>A	(Likely) benign	1 lab	04f5405f8f
1:215824009 USH2A A>G	1	215824009	215824009	A	G	USH2A	c.14268T>C	NM_206933.2	NP_996816.2:p.(Ser4756=)	NC_000001.10:g.215824009A>G	(Likely) benign	1 lab	04f5d1fa86
22:42610126 TCF20 G>T	22	42610126	42610126	G	T	TCF20	c.1186C>A	NM_005650.4	NP_005641.1:p.(Leu396Ile)	NC_000022.10:g.42610126G>T	(Likely) benign	1 lab	e00e808703
19:36594516 WDR62 C>T	19	36594516	36594516	C	T	WDR62	c.3786C>T	NM_001083961.1	NP_001077430.1:p.(Gly1262=)	NC_000019.9:g.36594516C>T	(Likely) benign	1 lab	04f7bbab7f
1:7811385 CAMTA1 A>G	1	7811385	7811385	A	G	CAMTA1	c.4816A>G	NM_015215.3	NP_056030.1:p.(Ser1606Gly)	NC_000001.10:g.7811385A>G	VUS	1 lab	04f9b485c7
17:34849819 ZNHIT3 CAG>C	17	34849819	34849823	CAG	C	ZNHIT3	c.258_259del	NM_004773.4	NP_004764.1:p.(Arg86SerfsTer67)	NC_000017.10:g.34849822_34849823del	VUS	1 lab	04fa4861f0
11:6640618 TPP1 G>T	11	6640618	6640618	G	T	TPP1	c.14C>A	NM_000391.3	NP_000382.3:p.(Ala5Asp)	NC_000011.9:g.6640618G>T	(Likely) benign	1 lab	04fba9230d
17:57157159 TRIM37 G>C	17	57157159	57157159	G	C	TRIM37	c.572C>G	NM_015294.6	NP_056109.1:p.(Ala191Gly)	NC_000017.10:g.57157159G>C	VUS	1 lab	04fc46310f
2:170063299 LRP2 C>T	2	170063299	170063299	C	T	LRP2	c.6931G>A	NM_004525.3	NP_004516.2:p.(Glu2311Lys)	NC_000002.11:g.170063299C>T	VUS	1 lab	04fcce1ced
15:45402716 DUOX2 C>T	15	45402716	45402716	C	T	DUOX2	c.950G>A	NM_001363711.1	NP_001350640.1:p.(Arg317His)	NC_000015.9:g.45402716C>T	(Likely) benign	1 lab	04fdc59496
3:73111813 EBLN2 C>T	3	73111813	73111813	C	T	EBLN2	c.581C>T	NM_018029.4	NP_060499.3:p.(Ala194Val)	NC_000003.11:g.73111813C>T	VUS	1 lab	050198be87
2:179427579 TTN G>A	2	179427579	179427579	G	A	TTN	c.83280C>T	NM_001267550.1	NP_001254479.1:p.(Asn27760=)	NC_000002.11:g.179427579G>A	(Likely) benign	1 lab	0501a43e62
14:21802823 RPGRIP1 G>T	14	21802823	21802823	G	T	RPGRIP1	c.3298G>T	NM_020366.3	NP_065099.3:p.(Asp1100Tyr)	NC_000014.8:g.21802823G>T	VUS	1 lab	0501ecec74
6:159178375 SYTL3 A>G	6	159178375	159178375	A	G	SYTL3	c.1270A>G	NM_001242394.1	NP_001229323.1:p.(Thr424Ala)	NC_000006.11:g.159178375A>G	(Likely) benign	1 lab	05021f0b6d
17:37871547 ERBB2 C>A	17	37871547	37871547	C	A	ERBB2	c.1112C>A	NM_001289936.1	NP_001276865.1:p.(Ala371Asp)	NC_000017.10:g.37871547C>A	(Likely) benign	1 lab	0503973e15
11:17632192 OTOG T>C	11	17632192	17632192	T	C	OTOG	c.5381T>C	NM_001277269.1	NP_001264198.1:p.(Leu1794Pro)	NC_000011.9:g.17632192T>C	(Likely) benign	1 lab	0503e2f946
3:133347520 TOPBP1 T>G	3	133347520	133347520	T	G	TOPBP1	c.2563A>C	NM_001363889.1	NP_001350818.1:p.(Ser855Arg)	NC_000003.11:g.133347520T>G	VUS	1 lab	050812e1f8
4:126371861 FAT4 G>A	4	126371861	126371861	G	A	FAT4	c.9696G>A	NM_001291303.1	NP_001278232.1:p.(Ala3232=)	NC_000004.11:g.126371861G>A	(Likely) benign	1 lab	050914494a
10:72358511 PRF1 G>A	10	72358511	72358511	G	A	PRF1	c.966C>T	NM_001083116.1	NP_001076585.1:p.(Pro322=)	NC_000010.10:g.72358511G>A	(Likely) benign	1 lab	05093c4ab3
5:13762972 DNAH5 T>C	5	13762972	13762972	T	C	DNAH5	c.10140A>G	NM_001369.2	NP_001360.1:p.(Glu3380=)	NC_000005.9:g.13762972T>C	(Likely) benign	1 lab	0509f0c5a1
10:73337722 CDH23 C>T	10	73337722	73337722	C	T	CDH23	c.805C>T	NM_022124.5	NP_071407.4:p.(Arg269Trp)	NC_000010.10:g.73337722C>T	VUS	1 lab	050d366d3a
20:25062683 VSX1 A>G	20	25062683	25062683	A	G	VSX1	c.50T>C	NM_001256272.1	NP_001243201.1:p.(Leu17Pro)	NC_000020.10:g.25062683A>G	VUS	1 lab	050d4c6a64
1:47717188 STIL C>T	1	47717188	47717188	C	T	STIL	c.3487G>A	NM_001048166.1	NP_001041631.1:p.(Glu1163Lys)	NC_000001.10:g.47717188C>T	VUS	1 lab	050e870cec
16:2129563 TSC2 GC>G	16	2129563	2129567	GC	G	TSC2	c.3294del	NM_000548.5	NP_000539.2:p.(Val1100CysfsTer3)	NC_000016.9:g.2129567del	(Likely) pathogenic	1 lab	0511cc66bd
11:8751844 DENND2B A>T	11	8751844	8751844	A	T	DENND2B	c.993T>A	NM_005418.3	NP_005409.3:p.(Ser331Arg)	NC_000011.9:g.8751844A>T	(Likely) benign	1 lab	051233f238
12:49373373 WNT1 C>G	12	49373373	49373373	C	G	WNT1	c.227C>G	NM_005430.4	NP_005421.1:p.(Pro76Arg)	NC_000012.11:g.49373373C>G	VUS	1 lab	e010c76ea7
1:36557625 ADPRS T>C	1	36557625	36557625	T	C	ADPRS	c.631T>C	NM_017825.3	NP_060295.1:p.(Phe211Leu)	NC_000001.10:g.36557625T>C	VUS	1 lab	051269d313
20:33567300 MYH7B G>A	20	33567300	33567300	G	A	MYH7B	c.324+1G>A	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33567300G>A	VUS	1 lab	0514dd29c1
4:74021888 ANKRD17 T>G	4	74021888	74021888	T	G	ANKRD17	c.366-5A>C	NM_001286771.3	NP_001273700.1:p.?	NC_000004.11:g.74021888T>G	(Likely) benign	1 lab	e017ba07dd
16:15761257 NDE1 C>T	16	15761257	15761257	C	T	NDE1	c.198C>T	NM_001143979.1	NP_001137451.1:p.(Ser66=)	NC_000016.9:g.15761257C>T	(Likely) benign	1 lab	051918be9e
X:19560171 SH3KBP1 C>T	X	19560171	19560171	C	T	SH3KBP1	c.1839G>A	NM_001353891.1	NP_001340820.1:p.(Pro613=)	NC_000023.10:g.19560171C>T	(Likely) benign	1 lab	052181106a
7:155604604 SHH C>T	7	155604604	155604604	C	T	SHH	c.213G>A	NM_000193.3	NP_000184.1:p.(Glu71=)	NC_000007.13:g.155604604C>T	(Likely) benign	1 lab	05218af345
15:72104400 NR2E3 C>T	15	72104400	72104400	C	T	NR2E3	c.455C>T	NM_016346.3	NP_057430.1:p.(Pro152Leu)	NC_000015.9:g.72104400C>T	(Likely) benign	1 lab	0522169a6e
12:110029151 MVK C>T	12	110029151	110029151	C	T	MVK	c.874C>T	NM_000431.2	NP_000422.1:p.(Leu292Phe)	NC_000012.11:g.110029151C>T	(Likely) benign	1 lab	05233047d4
6:70506769 LMBRD1 G>C	6	70506769	70506769	G	C	LMBRD1	c.5C>G	NM_018368.4	NP_060838.3:p.(Ala2Gly)	NC_000006.11:g.70506769G>C	VUS	1 lab	0523964ffb
X:77276484 ATP7A GTTCC>G	X	77276484	77276490	GTTCC	G	ATP7A	c.2827_2830del	NM_000052.7	NP_000043.4:p.(Pro943LeufsTer15)	NC_000023.10:g.77276487_77276490del	(Likely) pathogenic	1 lab	0523ee511c
15:30000923 TJP1 A>G	15	30000923	30000923	A	G	TJP1	c.4690T>C	NM_001330239.2	NP_001317168.1:p.(Ser1564Pro)	NC_000015.9:g.30000923A>G	(Likely) benign	1 lab	0524d8151d
16:84193303 DNAAF1 C>G	16	84193303	84193303	C	G	DNAAF1	c.765C>G	NM_178452.5	NP_848547.4:p.(Asn255Lys)	NC_000016.9:g.84193303C>G	VUS	1 lab	0527e59a72
13:110826260 COL4A1 C>T	13	110826260	110826260	C	T	COL4A1	c.3492G>A	NM_001845.5	NP_001836.3:p.(Glu1164=)	NC_000013.10:g.110826260C>T	(Likely) benign	1 lab	0529611564
X:148571967 IDS T>C	X	148571967	148571967	T	C	IDS	c.884A>G	NM_000202.7	NP_000193.1:p.(Lys295Arg)	NC_000023.10:g.148571967T>C	(Likely) benign	1 lab	05299c6fcd
1:44820598 ERI3 G>T	1	44820598	44820598	G	T	ERI3	c.101C>A	NM_024066.2	NP_076971.1:p.(Thr34Asn)	NC_000001.10:g.44820598G>T	(Likely) benign	1 lab	0536e7e358
6:36262090 PNPLA1 G>A	6	36262090	36262090	G	A	PNPLA1	c.628G>A	NM_001145717.1	NP_001139189.2:p.(Asp210Asn)	NC_000006.11:g.36262090G>A	VUS	1 lab	052e0f8032
14:45473331 TOGARAM1 C>T	14	45473331	45473331	C	T	TOGARAM1	c.2406C>T	NM_001308120.2	NP_001295049.1:p.(Ser802=)	NC_000014.8:g.45473331C>T	(Likely) benign	1 lab	052e390d16
14:88904677 SPATA7 A>G	14	88904677	88904677	A	G	SPATA7	c.1711A>G	NM_018418.4	NP_060888.2:p.(Ser571Gly)	NC_000014.8:g.88904677A>G	(Likely) benign	1 lab	052e9ccde4
2:241685557 KIF1A C>T	2	241685557	241685557	C	T	KIF1A	c.3101G>A	NM_001244008.1	NP_001230937.1:p.(Arg1034His)	NC_000002.11:g.241685557C>T	(Likely) benign	1 lab	052f0cf33a
X:70344651 MED12 G>A	X	70344651	70344651	G	A	MED12	c.2012G>A	NM_005120.2	NP_005111.2:p.(Ser671Asn)	NC_000023.10:g.70344651G>A	(Likely) benign	1 lab	05304bc1a0
20:33582094 MYH7B CG>C	20	33582094	33582099	CG	C	MYH7B	c.2595del	NM_020884.7	NP_065935.4:p.(Leu866CysfsTer50)	NC_000020.10:g.33582099del	VUS	1 lab	0531ab6750
17:8814726 PIK3R5 C>T	17	8814726	8814726	C	T	PIK3R5	c.86G>A	NM_001142633.3	NP_001136105.1:p.(Arg29His)	NC_000017.10:g.8814726C>T	(Likely) benign	1 lab	e017f9aaac
X:53602646 HUWE1 C>T	X	53602646	53602646	C	T	HUWE1	c.5987G>A	NM_031407.6	NP_113584.3:p.(Arg1996His)	NC_000023.10:g.53602646C>T	VUS	1 lab	053366dff2
17:73774698 H3-3B C>T	17	73774698	73774698	C	T	H3-3B	c.389G>A	NM_005324.5	NP_005315.1:p.(Arg130Gln)	NC_000017.10:g.73774698C>T	VUS	1 lab	e01a009cf4
14:105412335 AHNAK2 C>T	14	105412335	105412335	C	T	AHNAK2	c.9453G>A	NM_138420.3	NP_612429.2:p.(Pro3151=)	NC_000014.8:g.105412335C>T	(Likely) benign	1 lab	0535385b3e
1:17338227 ATP13A2 C>T	1	17338227	17338227	C	T	ATP13A2	c.7G>A	NM_001141973.2	NP_001135445.1:p.(Ala3Thr)	NC_000001.10:g.17338227C>T	(Likely) benign	1 lab	0536cb8085
15:45879692 BLOC1S6 C>G	15	45879692	45879692	C	G	BLOC1S6	c.51C>G	NM_012388.3	NP_036520.1:p.(Pro17=)	NC_000015.9:g.45879692C>G	(Likely) benign	1 lab	0536fff5a1
1:152284010 FLG T>G	1	152284010	152284010	T	G	FLG	c.3352A>C	NM_002016.1	NP_002007.1:p.(Ile1118Leu)	NC_000001.10:g.152284010T>G	(Likely) benign	1 lab	05381bc523
14:76149925 TTLL5 G>A	14	76149925	76149925	G	A	TTLL5	c.297G>A	NM_015072.4	NP_055887.3:p.(Met99Ile)	NC_000014.8:g.76149925G>A	VUS	1 lab	053882e960
1:197390605 CRB1 T>C	1	197390605	197390605	T	C	CRB1	c.1440T>C	NM_001257965.1	NP_001244894.1:p.(Asn480=)	NC_000001.10:g.197390605T>C	(Likely) benign	1 lab	0538aef31e
2:130934139 SMPD4 G>A	2	130934139	130934139	G	A	SMPD4	c.144C>T	NM_017951.4	NP_060421.2:p.(Pro48=)	NC_000002.11:g.130934139G>A	(Likely) benign	1 lab	0538ec5d2f
18:67691954 RTTN T>C	18	67691954	67691954	T	C	RTTN	c.5950+4A>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67691954T>C	VUS	1 lab	053ac487e3
19:44679989 ZNF226 A>C	19	44679989	44679989	A	C	ZNF226	c.574A>C	NM_001032372.1	NP_001027544.1:p.(Ile192Leu)	NC_000019.9:g.44679989A>C	VUS	1 lab	053c7e001c
14:21992705 SALL2 C>G	14	21992705	21992705	C	G	SALL2	c.1157G>C	NM_005407.2	NP_005398.2:p.(Ser386Thr)	NC_000014.8:g.21992705C>G	VUS	1 lab	053ca22b10
1:248790269 OR2T11 G>A	1	248790269	248790269	G	A	OR2T11	c.161C>T	NM_001001964.1	NP_001001964.1:p.(Thr54Ile)	NC_000001.10:g.248790269G>A	(Likely) benign	1 lab	053d3e80cc
12:49432737 KMT2D C>T	12	49432737	49432737	C	T	KMT2D	c.8402G>A	NM_003482.3	NP_003473.3:p.(Arg2801Gln)	NC_000012.11:g.49432737C>T	VUS	1 lab	053dc05ded
10:94408004 KIF11 C>T	10	94408004	94408004	C	T	KIF11	c.2583C>T	NM_004523.3	NP_004514.2:p.(Asp861=)	NC_000010.10:g.94408004C>T	(Likely) benign	1 lab	0540de3c5f
3:126216967 UROC1 C>T	3	126216967	126216967	C	T	UROC1	c.1545G>A	NM_001165974.1	NP_001159446.1:p.(Ser515=)	NC_000003.11:g.126216967C>T	(Likely) benign	1 lab	0541e8a915
13:103718331 SLC10A2 A>G	13	103718331	103718331	A	G	SLC10A2	c.269T>C	NM_000452.2	NP_000443.1:p.(Phe90Ser)	NC_000013.10:g.103718331A>G	VUS	1 lab	054214f9d3
3:182756833 MCCC1 T>C	3	182756833	182756833	T	C	MCCC1	c.1358A>G	NM_020166.4	NP_064551.3:p.(Tyr453Cys)	NC_000003.11:g.182756833T>C	VUS	1 lab	05429af02f
18:43450689 EPG5 T>A	18	43450689	43450689	T	A	EPG5	c.6068A>T	NM_020964.3	NP_066015.2:p.(Asp2023Val)	NC_000018.9:g.43450689T>A	VUS	1 lab	e01c5952fd
12:32949251 PKP2 AAC>TA	12	32949251	32949253	AAC	TA	PKP2	c.2300-21_2300-19delinsTA	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949251_32949253delinsTA	(Likely) benign	1 lab	054375f58d
19:1003233 GRIN3B C>A	19	1003233	1003233	C	A	GRIN3B	c.531C>A	NM_138690.2	NP_619635.1:p.(Ala177=)	NC_000019.9:g.1003233C>A	(Likely) benign	1 lab	05441f604b
11:6648631 DCHS1 T>C	11	6648631	6648631	T	C	DCHS1				NC_000011.9:g.6648631T>C	VUS	1 lab	0548dd7d4b
2:36744495 CRIM1 G>A	2	36744495	36744495	G	A	CRIM1	c.2016G>A	NM_016441.3	NP_057525.1:p.(Glu672=)	NC_000002.11:g.36744495G>A	(Likely) benign	1 lab	0549d7602f
9:40703811 SPATA31A3 C>T	9	40703811	40703811	C	T	SPATA31A3	c.1468C>T	NM_001083124.1	NP_001076593.1:p.(Arg490Trp)	NC_000009.11:g.40703811C>T	(Likely) benign	1 lab	0549e1b4d9
1:151372201 PSMB4 C>T	1	151372201	151372201	C	T	PSMB4	c.138C>T	NM_002796.3	NP_002787.2:p.(Thr46=)	NC_000001.10:g.151372201C>T	(Likely) benign	1 lab	054bcf5a9c
X:54143143 FAM120C C>T	X	54143143	54143143	C	T	FAM120C	c.2147G>A	NM_017848.5	NP_060318.4:p.(Arg716Gln)	NC_000023.10:g.54143143C>T	VUS	1 lab	054ca6e623
7:4825903 AP5Z1 G>A	7	4825903	4825903	G	A	AP5Z1	c.1155G>A	NM_014855.3	NP_055670.1:p.(Ser385=)	NC_000007.13:g.4825903G>A	(Likely) benign	1 lab	054ccd89d8
10:73591013 PSAP G>A	10	73591013	73591013	G	A	PSAP	c.250-5C>T	NM_001042465.2	NP_001035930.1:p.?	NC_000010.10:g.73591013G>A	(Likely) benign	1 lab	054e188998
17:42992612 GFAP G>A	17	42992612	42992612	G	A	GFAP	c.243C>T	NM_002055.4	NP_002046.1:p.(Ala81=)	NC_000017.10:g.42992612G>A	(Likely) benign	1 lab	054ea73889
1:150532230 ADAMTSL4 G>A	1	150532230	150532230	G	A	ADAMTSL4	c.3013-7G>A	NM_001288608.1	NP_001275537.1:p.?	NC_000001.10:g.150532230G>A	VUS	1 lab	054f2c26e5
X:139586481 SOX3 TGGCGGCAGCGGCTGCGGCCGCGGCAGC>T	X	139586481	139586514	TGGCGGCAGCGGCTGCGGCCGCGGCAGC	T	SOX3	c.718_744del	NM_005634.3	NP_005625.2:p.(Ala240_Ala248del)	NC_000023.10:g.139586488_139586514del	VUS	1 lab	054f7b9399
10:7830171 ATP5F1C A>G	10	7830171	7830171	A	G	ATP5F1C	c.1A>G	NM_001001973.3	NP_001001973.1:p.(Met1?)	NC_000010.10:g.7830171A>G	VUS	1 lab	054fbf4c3d
1:7724727 CAMTA1 C>G	1	7724727	7724727	C	G	CAMTA1	c.2120C>G	NM_015215.3	NP_056030.1:p.(Ser707Cys)	NC_000001.10:g.7724727C>G	VUS	1 lab	0550106411
15:90196063 KIF7 C>T	15	90196063	90196063	C	T	KIF7	c.99G>A	NM_198525.2	NP_940927.2:p.(Gly33=)	NC_000015.9:g.90196063C>T	(Likely) benign	1 lab	055028f1e9
14:91763722 CCDC88C G>C	14	91763722	91763722	G	C	CCDC88C	c.3893C>G	NM_001080414.3	NP_001073883.2:p.(Ala1298Gly)	NC_000014.8:g.91763722G>C	(Likely) benign	1 lab	0550f2da08
X:591633 SHOX A>G	X	591633	591633	A	G	SHOX	c.1A>G	NM_000451.3	NP_000442.1:p.(Met1?)	NC_000023.10:g.591633A>G	(Likely) pathogenic	1 lab	05521c277d
7:141740564 MGAM C>A	7	141740564	141740564	C	A	MGAM	c.2416C>A	NM_004668.2	NP_004659.2:p.(Leu806Ile)	NC_000007.13:g.141740564C>A	(Likely) benign	1 lab	05551b066c
15:73044930 ADPGK C>T	15	73044930	73044930	C	T	ADPGK	c.880G>A	NM_001365226.1	NP_001352155.1:p.(Ala294Thr)	NC_000015.9:g.73044930C>T	VUS	1 lab	0555547ed9
11:94197289 MRE11 C>T	11	94197289	94197289	C	T	MRE11	c.1215G>A	NM_005590.3	NP_005581.2:p.(Lys405=)	NC_000011.9:g.94197289C>T	(Likely) benign	1 lab	0556d8b6a5
6:143095618 HIVEP2 C>T	6	143095618	143095618	C	T	HIVEP2	c.258G>A	NM_006734.3	NP_006725.3:p.(Pro86=)	NC_000006.11:g.143095618C>T	(Likely) benign	1 lab	05574a539b
7:92129157 PEX1 G>T	7	92129157	92129157	G	T	PEX1	c.1960-5C>A	NM_001282678.1	NP_001269607.1:p.?	NC_000007.13:g.92129157G>T	(Likely) benign	1 lab	055b108745
2:173423443 PDK1 G>A	2	173423443	173423443	G	A	PDK1	c.204G>A	NM_001278549.1	NP_001265478.1:p.(Val68=)	NC_000002.11:g.173423443G>A	(Likely) benign	1 lab	055bac8b20
2:166773783 TTC21B C>T	2	166773783	166773783	C	T	TTC21B	c.1883G>A	NM_024753.4	NP_079029.3:p.(Arg628His)	NC_000002.11:g.166773783C>T	VUS	1 lab	055bcb4261
17:39928036 JUP G>A	17	39928036	39928036	G	A	JUP	c.71C>T	NM_021991.2	NP_068831.1:p.(Ser24Leu)	NC_000017.10:g.39928036G>A	VUS	1 lab	055bce30af
15:93541859 CHD2 C>A	15	93541859	93541859	C	A	CHD2	c.4008+8C>A	NM_001271.3	NP_001262.3:p.?	NC_000015.9:g.93541859C>A	(Likely) benign	1 lab	055d9d5c9c
X:131219996 FRMD7 T>C	X	131219996	131219996	T	C	FRMD7	c.449A>G	NM_194277.2	NP_919253.1:p.(Asn150Ser)	NC_000023.10:g.131219996T>C	(Likely) benign	1 lab	055dcb71b9
17:1629658 WDR81 G>A	17	1629658	1629658	G	A	WDR81	c.1405G>A	NM_001163809.1	NP_001157281.1:p.(Ala469Thr)	NC_000017.10:g.1629658G>A	VUS	1 lab	055f4873dc
1:152278245 FLG G>C	1	152278245	152278245	G	C	FLG	c.9117C>G	NM_002016.1	NP_002007.1:p.(Ser3039=)	NC_000001.10:g.152278245G>C	(Likely) benign	1 lab	055f51847b
1:158549029 OR10X1 A>C	1	158549029	158549029	A	C	OR10X1	c.661T>G	NM_001004477.1	NP_001004477.1:p.(Ser221Ala)	NC_000001.10:g.158549029A>C	VUS	1 lab	0560aeec11
9:116811409 ZNF618 G>A	9	116811409	116811409	G	A	ZNF618	c.1827G>A	NM_001318042.1	NP_001304971.1:p.(Ser609=)	NC_000009.11:g.116811409G>A	(Likely) benign	1 lab	0560d40aa5
8:126075826 WASHC5 C>T	8	126075826	126075826	C	T	WASHC5	c.1346G>A	NM_014846.3	NP_055661.3:p.(Arg449Gln)	NC_000008.10:g.126075826C>T	VUS	1 lab	05618d5513
3:45518035 LARS2 G>A	3	45518035	45518035	G	A	LARS2	c.934G>A	NM_015340.4	NP_056155.1:p.(Val312Met)	NC_000003.11:g.45518035G>A	VUS	1 lab	0564c7cb95
8:3038704 CSMD1 A>C	8	3038704	3038704	A	C	CSMD1	c.5653T>G	NM_033225.6	NP_150094.5:p.(Ser1885Ala)	NC_000008.10:g.3038704A>C	VUS	1 lab	0565299fd4
X:40506697 CXorf38 A>C	X	40506697	40506697	A	C	CXorf38	c.76T>G	NM_144970.2	NP_659407.1:p.(Leu26Val)	NC_000023.10:g.40506697A>C	VUS	1 lab	05689ea1d8
2:233001282 DIS3L2 T>C	2	233001282	233001282	T	C	DIS3L2	c.803T>C	NM_152383.4	NP_689596.4:p.(Phe268Ser)	NC_000002.11:g.233001282T>C	VUS	1 lab	056b67a875
16:85699887 GSE1 G>C	16	85699887	85699887	G	C	GSE1	c.3064G>C	NM_014615.4	NP_055430.1:p.(Glu1022Gln)	NC_000016.9:g.85699887G>C	VUS	1 lab	056b85de07
18:28966782 DSG4 A>G	18	28966782	28966782	A	G	DSG4	c.216A>G	NM_001134453.2	NP_001127925.1:p.(Lys72=)	NC_000018.9:g.28966782A>G	(Likely) benign	1 lab	056d971ff5
2:227919330 COL4A4 C>T	2	227919330	227919330	C	T	COL4A4	c.2840G>A	NM_000092.5	NP_000083.3:p.(Arg947Gln)	NC_000002.11:g.227919330C>T	VUS	1 lab	e02929fd4b
15:100514643 ADAMTS17 A>G	15	100514643	100514643	A	G	ADAMTS17	c.3252T>C	NM_139057.3	NP_620688.2:p.(Tyr1084=)	NC_000015.9:g.100514643A>G	(Likely) benign	1 lab	05716e8bdb
X:54040981 PHF8 C>T	X	54040981	54040981	C	T	PHF8	c.612G>A	NM_015107.2	NP_055922.1:p.(Val204=)	NC_000023.10:g.54040981C>T	(Likely) benign	1 lab	0571e2ef4c
17:58700882 PPM1D C>T	17	58700882	58700882	C	T	PPM1D	c.473C>T	NM_003620.3	NP_003611.1:p.(Ala158Val)	NC_000017.10:g.58700882C>T	(Likely) benign	1 lab	0571e4125d
17:61488943 TANC2 T>C	17	61488943	61488943	T	C	TANC2	c.3439T>C	NM_025185.4	NP_079461.2:p.(Ser1147Pro)	NC_000017.10:g.61488943T>C	(Likely) benign	1 lab	0571ed9d5d
2:220285069 DES G>A	2	220285069	220285069	G	A	DES	c.735+1G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220285069G>A	(Likely) pathogenic	1 lab	0572830704
10:69902868 MYPN A>T	10	69902868	69902868	A	T	MYPN	c.192A>T	NM_001256268.1	NP_001243197.1:p.(Ile64=)	NC_000010.10:g.69902868A>T	VUS	1 lab	05731de5bd
2:27447232 CAD G>T	2	27447232	27447232	G	T	CAD	c.1128G>T	NM_004341.4	NP_004332.2:p.(Glu376Asp)	NC_000002.11:g.27447232G>T	(Likely) benign	1 lab	05740a4415
9:14846022 FREM1 G>A	9	14846022	14846022	G	A	FREM1	c.1329C>T	NM_144966.5	NP_659403.4:p.(Asp443=)	NC_000009.11:g.14846022G>A	(Likely) benign	1 lab	0574e75e85
17:29486049 NF1 GA>G	17	29486049	29486056	GA	G	NF1	c.233del	NM_001042492.3	NP_001035957.1:p.(Asn78IlefsTer7)	NC_000017.10:g.29486056del	(Likely) pathogenic	1 lab	0575248a14
2:45169612 SIX3 G>A	2	45169612	45169612	G	A	SIX3	c.369G>A	NM_005413.3	NP_005404.1:p.(Glu123=)	NC_000002.11:g.45169612G>A	(Likely) benign	1 lab	05757cea9b
X:114424407 RBMXL3 G>A	X	114424407	114424407	G	A	RBMXL3	c.403G>A	NM_001145346.1	NP_001138818.1:p.(Gly135Arg)	NC_000023.10:g.114424407G>A	VUS	1 lab	057645143f
2:73678733 ALMS1 T>C	2	73678733	73678733	T	C	ALMS1	c.5082T>C	NM_015120.4	NP_055935.4:p.(Pro1694=)	NC_000002.11:g.73678733T>C	(Likely) benign	1 lab	0577f360f0
16:2114336 TSC2 C>CA	16	2114336	2114337	C	CA	TSC2	c.1508dup	NM_000548.3	NP_000539.2:p.(Val504GlyfsTer85)	NC_000016.9:g.2114337dup	(Likely) pathogenic	1 lab	057835fb17
19:13323027 CACNA1A C>G	19	13323027	13323027	C	G	CACNA1A	c.6193G>C	NM_001127222.2	NP_001120694.1:p.(Val2065Leu)	NC_000019.9:g.13323027C>G	VUS	1 lab	e0337cacf6
17:1634070 WDR81 C>T	17	1634070	1634070	C	T	WDR81	c.3797C>T	NM_001163809.1	NP_001157281.1:p.(Thr1266Ile)	NC_000017.10:g.1634070C>T	(Likely) benign	1 lab	0579324515
X:153296337 MECP2 G>A	X	153296337	153296337	G	A	MECP2	c.942C>T	NM_004992.3	NP_004983.1:p.(Ile314=)	NC_000023.10:g.153296337G>A	(Likely) benign	1 lab	057b2ed3ed
4:110789068 LRIT3 G>A	4	110789068	110789068	G	A	LRIT3	c.861G>A	NM_198506.4	NP_940908.3:p.(Trp287Ter)	NC_000004.11:g.110789068G>A	(Likely) pathogenic	1 lab	057c1d21f2
15:80806311 ARNT2 G>A	15	80806311	80806311	G	A	ARNT2	c.785G>A	NM_014862.4	NP_055677.3:p.(Arg262Lys)	NC_000015.9:g.80806311G>A	(Likely) benign	1 lab	0580372950
19:53553339 ERVV-2 C>T	19	53553339	53553339	C	T	ERVV-2	c.835C>T	NM_001191055.1	NP_001177984.1:p.(Pro279Ser)	NC_000019.9:g.53553339C>T	VUS	1 lab	05814fe4a5
8:61735217 CHD7 G>A	8	61735217	61735217	G	A	CHD7				NC_000008.10:g.61735217G>A	(Likely) pathogenic	1 lab	05827a3d11
16:23436179 COG7 G>A	16	23436179	23436179	G	A	COG7	c.900C>T	NM_153603.3	NP_705831.1:p.(Asn300=)	NC_000016.9:g.23436179G>A	(Likely) benign	1 lab	0584a7a4aa
16:67984892 SLC12A4 G>A	16	67984892	67984892	G	A	SLC12A4	c.1369C>T	NM_005072.4	NP_005063.1:p.(Leu457=)	NC_000016.9:g.67984892G>A	(Likely) benign	1 lab	05857353a5
16:2121784 TSC2 G>A	16	2121784	2121784	G	A	TSC2	c.1947-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121784G>A	(Likely) pathogenic	1 lab	05875c1e77
17:29676200 NF1 ACT>A	17	29676200	29676204	ACT	A	NF1	c.7255_7256del	NM_001042492.3	NP_001035957.1:p.(Leu2419GlyfsTer2)	NC_000017.10:g.29676203_29676204del	(Likely) pathogenic	1 lab	0588f21137
X:34961338 FAM47B C>T	X	34961338	34961338	C	T	FAM47B	c.390C>T	NM_152631.2	NP_689844.2:p.(Pro130=)	NC_000023.10:g.34961338C>T	(Likely) benign	1 lab	058ae1e228
4:9783915 DRD5 C>T	4	9783915	9783915	C	T	DRD5	c.262C>T	NM_000798.4	NP_000789.1:p.(Leu88Phe)	NC_000004.11:g.9783915C>T	VUS	1 lab	058eac991d
5:79945273 DHFR G>A	5	79945273	79945273	G	A	DHFR	c.177C>T	NM_000791.3	NP_000782.1:p.(Phe59=)	NC_000005.9:g.79945273G>A	(Likely) benign	1 lab	058faf0398
19:2115238 AP3D1 C>T	19	2115238	2115238	C	T	AP3D1	c.2329G>A	NM_001261826.3	NP_001248755.1:p.(Val777Ile)	NC_000019.9:g.2115238C>T	VUS	1 lab	058fb66524
5:37153901 CPLANE1 C>T	5	37153901	37153901	C	T	CPLANE1	c.8152G>A	NM_023073.3	NP_075561.3:p.(Ala2718Thr)	NC_000005.9:g.37153901C>T	VUS	1 lab	05900ae404
6:108243119 SEC63 G>T	6	108243119	108243119	G	T	SEC63	c.340-6C>A	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243119G>T	(Likely) benign	1 lab	e0384bdb62
5:40936583 C7 A>G	5	40936583	40936583	A	G	C7	c.424A>G	NM_000587.2	NP_000578.2:p.(Asn142Asp)	NC_000005.9:g.40936583A>G	(Likely) benign	1 lab	0591e06651
1:151260173 ZNF687 C>T	1	151260173	151260173	C	T	ZNF687	c.1406C>T	NM_001304763.1	NP_001291692.1:p.(Ser469Leu)	NC_000001.10:g.151260173C>T	VUS	1 lab	059209d058
17:29486114 NF1 A>T	17	29486114	29486114	A	T	NF1	c.288+3A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486114A>T	VUS	1 lab	0592945a2e
15:101448628 ALDH1A3 C>T	15	101448628	101448628	C	T	ALDH1A3	c.1407C>T	NM_000693.3	NP_000684.2:p.(Asn469=)	NC_000015.9:g.101448628C>T	(Likely) benign	1 lab	05940c3d13
12:48371821 COL2A1 G>A	12	48371821	48371821	G	A	COL2A1	c.3083C>T	NM_001844.4	NP_001835.3:p.(Thr1028Met)	NC_000012.11:g.48371821G>A	VUS	1 lab	05942906de
16:51172802 SALL1 C>T	16	51172802	51172802	C	T	SALL1	c.3331G>A	NM_002968.2	NP_002959.2:p.(Gly1111Arg)	NC_000016.9:g.51172802C>T	VUS	1 lab	0594d7cc6b
2:44003928 DYNC2LI1 C>T	2	44003928	44003928	C	T	DYNC2LI1	c.16C>T	NM_001348913.1	NP_001335842.1:p.(Leu6Phe)	NC_000002.11:g.44003928C>T	VUS	1 lab	059527014f
11:126145265 FOXRED1 G>T	11	126145265	126145265	G	T	FOXRED1	c.675G>T	NM_017547.3	NP_060017.1:p.(Gln225His)	NC_000011.9:g.126145265G>T	(Likely) benign	1 lab	0596ee63e5
X:9863788 SHROOM2 G>A	X	9863788	9863788	G	A	SHROOM2	c.1840G>A	NM_001649.3	NP_001640.1:p.(Ala614Thr)	NC_000023.10:g.9863788G>A	(Likely) benign	1 lab	0597896866
1:92948996 GFI1 G>C	1	92948996	92948996	G	C	GFI1	c.49C>G	NM_005263.5	NP_005254.2:p.(Gln17Glu)	NC_000001.10:g.92948996G>C	(Likely) benign	1 lab	e03a8fbbf9
14:71556036 PCNX1 C>T	14	71556036	71556036	C	T	PCNX1	c.5566C>T	NM_014982.2	NP_055797.2:p.(Arg1856Cys)	NC_000014.8:g.71556036C>T	VUS	1 lab	0599cff19d
16:2104446 TSC2 G>A	16	2104446	2104446	G	A	TSC2	c.481+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2104446G>A	(Likely) pathogenic	1 lab	0599db19ad
4:94436475 GRID2 C>T	4	94436475	94436475	C	T	GRID2	c.2106C>T	NM_001510.3	NP_001501.2:p.(Asp702=)	NC_000004.11:g.94436475C>T	(Likely) benign	1 lab	059b1ab325
3:43122436 POMGNT2 T>C	3	43122436	43122436	T	C	POMGNT2	c.488A>G	NM_032806.5	NP_116195.2:p.(Asn163Ser)	NC_000003.11:g.43122436T>C	VUS	1 lab	059caa479a
X:9862630 SHROOM2 G>T	X	9862630	9862630	G	T	SHROOM2	c.682G>T	NM_001649.3	NP_001640.1:p.(Asp228Tyr)	NC_000023.10:g.9862630G>T	(Likely) benign	1 lab	059cd5f8f1
9:13113022 MPDZ G>A	9	13113022	13113022	G	A	MPDZ	c.5502C>T	NM_003829.4	NP_003820.2:p.(Val1834=)	NC_000009.11:g.13113022G>A	(Likely) benign	1 lab	059df684fe
6:42946235 PEX6 G>C	6	42946235	42946235	G	C	PEX6	c.654C>G	NM_000287.3	NP_000278.3:p.(Phe218Leu)	NC_000006.11:g.42946235G>C	VUS	1 lab	059f337446
17:2583565 PAFAH1B1 G>A	17	2583565	2583565	G	A	PAFAH1B1	c.1110G>A	NM_000430.3	NP_000421.1:p.(Lys370=)	NC_000017.10:g.2583565G>A	(Likely) benign	1 lab	059f920003
X:54019224 PHF8 C>T	X	54019224	54019224	C	T	PHF8	c.1675G>A	NM_015107.2	NP_055922.1:p.(Asp559Asn)	NC_000023.10:g.54019224C>T	VUS	1 lab	059fd34c49
2:179434789 TTN C>T	2	179434789	179434789	C	T	TTN	c.76070G>A	NM_001267550.2	NP_001254479.2:p.(Arg25357His)	NC_000002.11:g.179434789C>T	(Likely) benign	1 lab	e03b123d16
17:48265929 COL1A1 C>T	17	48265929	48265929	C	T	COL1A1	c.3169G>A	NM_000088.3	NP_000079.2:p.(Val1057Ile)	NC_000017.10:g.48265929C>T	VUS	1 lab	05a344aab9
11:78413225 TENM4 T>C	11	78413225	78413225	T	C	TENM4	c.4433A>G	NM_001098816.2	NP_001092286.2:p.(Asn1478Ser)	NC_000011.9:g.78413225T>C	(Likely) benign	1 lab	05a48f159c
4:183675711 TENM3 G>A	4	183675711	183675711	G	A	TENM3	c.4191G>A	NM_001080477.3	NP_001073946.1:p.(Ala1397=)	NC_000004.11:g.183675711G>A	(Likely) benign	1 lab	05a4e1ed9a
19:35249975 ZNF599 CGAT>C	19	35249975	35249980	CGAT	C	ZNF599	c.1728_1730del	NM_001007248.3	NP_001007249.1:p.(Ser577del)	NC_000019.9:g.35249978_35249980del	VUS	1 lab	05a56745c4
10:128974347 INSYN2A C>T	10	128974347	128974347	C	T	INSYN2A	c.313G>A	NM_001039762.3	NP_001034851.1:p.(Val105Met)	NC_000010.10:g.128974347C>T	VUS	1 lab	05a692c842
19:9063862 MUC16 C>T	19	9063862	9063862	C	T	MUC16	c.23584G>A	NM_024690.2	NP_078966.2:p.(Glu7862Lys)	NC_000019.9:g.9063862C>T	VUS	1 lab	05a83dbc40
9:95033351 IARS1 T>A	9	95033351	95033351	T	A	IARS1	c.1121A>T	NM_013417.3	NP_038203.2:p.(Asp374Val)	NC_000009.11:g.95033351T>A	VUS	1 lab	05a85c11b1
4:88535617 DSPP CAGTGACAGT>C	4	88535617	88535634	CAGTGACAGT	C	DSPP	c.1812_1820del	NM_014208.3	NP_055023.2:p.(Ser620_Ser622del)	NC_000004.11:g.88535626_88535634del	(Likely) benign	1 lab	05a8ef0518
9:35800482 NPR2 T>A	9	35800482	35800482	T	A	NPR2	c.1218+2T>A	NM_003995.3	NP_003986.2:p.?	NC_000009.11:g.35800482T>A	(Likely) pathogenic	1 lab	05aa3e66a4
17:61910349 SMARCD2 C>T	17	61910349	61910349	C	T	SMARCD2	c.1545G>A	NM_001098426.1	NP_001091896.1:p.(Val515=)	NC_000017.10:g.61910349C>T	(Likely) benign	1 lab	05ac9a9f32
X:115303712 AGTR2 T>C	X	115303712	115303712	T	C	AGTR2	c.179T>C	NM_000686.4	NP_000677.2:p.(Leu60Pro)	NC_000023.10:g.115303712T>C	(Likely) benign	1 lab	05ad3a1d4d
2:44128598 LRPPRC G>A	2	44128598	44128598	G	A	LRPPRC	c.3430C>T	NM_133259.3	NP_573566.2:p.(Arg1144Cys)	NC_000002.11:g.44128598G>A	VUS	1 lab	05b16eb3ce
4:119738511 SEC24D G>C	4	119738511	119738511	G	C	SEC24D	c.305C>G	NM_014822.3	NP_055637.2:p.(Pro102Arg)	NC_000004.11:g.119738511G>C	(Likely) benign	1 lab	05b212ebf4
5:150948305 FAT2 G>A	5	150948305	150948305	G	A	FAT2	c.188C>T	NM_001447.2	NP_001438.1:p.(Ala63Val)	NC_000005.9:g.150948305G>A	(Likely) benign	1 lab	05b2e84673
17:40714665 COASY C>T	17	40714665	40714665	C	T	COASY	c.25C>T	NM_025233.6	NP_079509.5:p.(Leu9=)	NC_000017.10:g.40714665C>T	(Likely) benign	1 lab	05b30407a0
6:66205271 EYS C>CA	6	66205271	66205272	C	CA	EYS	c.32dup	NM_001142800.1	NP_001136272.1:p.(Met12AspfsTer14)	NC_000006.11:g.66205272dup	(Likely) pathogenic	1 lab	05b5858273
2:15427245 NBAS C>A	2	15427245	15427245	C	A	NBAS	c.5090G>T	NM_015909.3	NP_056993.2:p.(Arg1697Leu)	NC_000002.11:g.15427245C>A	(Likely) benign	1 lab	05b58ed0c2
19:36215955 KMT2B C>T	19	36215955	36215955	C	T	KMT2B	c.3495C>T	NM_014727.2	NP_055542.1:p.(Pro1165=)	NC_000019.9:g.36215955C>T	(Likely) benign	1 lab	05b7b6322e
5:1272361 TERT C>T	5	1272361	1272361	C	T	TERT	c.2321G>A	NM_198253.2	NP_937983.2:p.(Arg774Gln)	NC_000005.9:g.1272361C>T	VUS	1 lab	06b2c509f9
1:116260544 CASQ2 C>T	1	116260544	116260544	C	T	CASQ2	c.784-29G>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116260544C>T	(Likely) benign	1 lab	05b93a5210
4:126238344 FAT4 C>A	4	126238344	126238344	C	A	FAT4	c.778C>A	NM_024582.4	NP_078858.4:p.(Pro260Thr)	NC_000004.11:g.126238344C>A	VUS	1 lab	05b95c283b
22:23523630 BCR C>A	22	23523630	23523630	C	A	BCR	c.483C>A	NM_004327.4	NP_004318.3:p.(Ile161=)	NC_000022.10:g.23523630C>A	(Likely) benign	1 lab	e043c75870
X:128630845 SMARCA1 G>A	X	128630845	128630845	G	A	SMARCA1	c.1508C>T	NM_003069.4	NP_003060.2:p.(Ser503Leu)	NC_000023.10:g.128630845G>A	VUS	1 lab	05ba21911b
1:43896226 SZT2 C>T	1	43896226	43896226	C	T	SZT2	c.4369C>T	NM_015284.3	NP_056099.3:p.(Arg1457Trp)	NC_000001.10:g.43896226C>T	VUS	1 lab	05bc84fa6f
7:82785003 PCLO C>A	7	82785003	82785003	C	A	PCLO	c.954G>T	NM_033026.5	NP_149015.2:p.(Gln318His)	NC_000007.13:g.82785003C>A	VUS	1 lab	05bcac68dd
3:48682945 CELSR3 G>T	3	48682945	48682945	G	T	CELSR3	c.7728C>A	NM_001407.2	NP_001398.2:p.(Ala2576=)	NC_000003.11:g.48682945G>T	(Likely) benign	1 lab	05bcbff123
8:144522483 ZC3H3 G>A	8	144522483	144522483	G	A	ZC3H3	c.2543C>T	NM_015117.3	NP_055932.2:p.(Ala848Val)	NC_000008.10:g.144522483G>A	(Likely) benign	1 lab	05bd9f596e
X:31792189 DMD C>T	X	31792189	31792189	C	T	DMD	c.7061G>A	NM_004010.3	NP_004001.1:p.(Arg2354Gln)	NC_000023.10:g.31792189C>T	VUS	1 lab	05beaa17e2
21:46875769 COL18A1 G>A	21	46875769	46875769	G	A	COL18A1	c.325G>A	NM_130444.3	NP_569711.2:p.(Gly109Ser)	NC_000021.8:g.46875769G>A	VUS	1 lab	05bebd18e7
1:27426918 SLC9A1 A>G	1	27426918	27426918	A	G	SLC9A1	c.2328T>C	NM_003047.4	NP_003038.2:p.(Asp776=)	NC_000001.10:g.27426918A>G	(Likely) benign	1 lab	05bed16cf2
4:110901299 EGF C>T	4	110901299	110901299	C	T	EGF	c.2221+4C>T	NM_001963.5	NP_001954.2:p.?	NC_000004.11:g.110901299C>T	(Likely) benign	1 lab	05bed1e84c
18:67794954 RTTN G>A	18	67794954	67794954	G	A	RTTN	c.3167C>T	NM_173630.3	NP_775901.3:p.(Ser1056Phe)	NC_000018.9:g.67794954G>A	VUS	1 lab	05bf5e92ae
1:57480548 DAB1 G>T	1	57480548	57480548	G	T	DAB1	c.1444+8C>A	NM_021080.4	NP_066566.3:p.?	NC_000001.10:g.57480548G>T	(Likely) benign	1 lab	05bfea6eef
X:101970585 GPRASP2 A>G	X	101970585	101970585	A	G	GPRASP2	c.788A>G	NM_001184874.2	NP_001171803.1:p.(Gln263Arg)	NC_000023.10:g.101970585A>G	(Likely) benign	1 lab	05c04d12d9
11:76834781 CAPN5 C>A	11	76834781	76834781	C	A	CAPN5	c.1788C>A	NM_004055.4	NP_004046.2:p.(His596Gln)	NC_000011.9:g.76834781C>A	VUS	1 lab	05c4f7fc30
13:23914464 SACS G>C	13	23914464	23914464	G	C	SACS	c.3551C>G	NM_014363.5	NP_055178.3:p.(Pro1184Arg)	NC_000013.10:g.23914464G>C	(Likely) benign	1 lab	05c57df81c
14:64882182 MTHFD1 A>G	14	64882182	64882182	A	G	MTHFD1	c.347A>G	NM_005956.4	NP_005947.3:p.(Asn116Ser)	NC_000014.8:g.64882182A>G	VUS	1 lab	05c631447d
17:29592260 NF1 GA>G	17	29592260	29592265	GA	G	NF1	c.4743del	NM_001042492.3	NP_001035957.1:p.(Glu1582LysfsTer6)	NC_000017.10:g.29592265del	(Likely) pathogenic	1 lab	05c6b2dba1
17:16120683 PIGL C>T	17	16120683	16120683	C	T	PIGL	c.143C>T	NM_004278.3	NP_004269.1:p.(Ala48Val)	NC_000017.10:g.16120683C>T	VUS	1 lab	05c6c188f4
2:98986500 CNGA3 C>G	2	98986500	98986500	C	G	CNGA3	c.62C>G	NM_001298.2	NP_001289.1:p.(Ser21Ter)	NC_000002.11:g.98986500C>G	(Likely) pathogenic	1 lab	05c70d7640
11:64825877 NAALADL1 G>T	11	64825877	64825877	G	T	NAALADL1	c.117C>A	NM_005468.3	NP_005459.2:p.(Asp39Glu)	NC_000011.9:g.64825877G>T	VUS	1 lab	05c83fe375
14:89042202 ZC3H14 T>TA	14	89042202	89042205	T	TA	ZC3H14	c.942dup	NM_001326297.1	NP_001313226.1:p.(Gln315ThrfsTer3)	NC_000014.8:g.89042205dup	VUS	1 lab	05c9b61807
13:115091286 CHAMP1 C>T	13	115091286	115091286	C	T	CHAMP1	c.1969C>T	NM_032436.4	NP_115812.1:p.(Gln657Ter)	NC_000013.10:g.115091286C>T	(Likely) pathogenic	1 lab	e048688123
4:6303893 WFS1 C>T	4	6303893	6303893	C	T	WFS1	c.2371C>T	NM_006005.3	NP_005996.2:p.(Arg791Cys)	NC_000004.11:g.6303893C>T	VUS	1 lab	05ca214fd2
18:13124693 CEP192 C>T	18	13124693	13124693	C	T	CEP192	c.7538C>T	NM_032142.4	NP_115518.3:p.(Ala2513Val)	NC_000018.9:g.13124693C>T	(Likely) benign	1 lab	05cbc2535f
12:31116770 TSPAN11 G>A	12	31116770	31116770	G	A	TSPAN11	c.94G>A	NM_001080509.2	NP_001073978.1:p.(Ala32Thr)	NC_000012.11:g.31116770G>A	(Likely) benign	1 lab	05cc0b1e62
19:15271870 NOTCH3 G>A	19	15271870	15271870	G	A	NOTCH3	c.6569C>T	NM_000435.2	NP_000426.2:p.(Ala2190Val)	NC_000019.9:g.15271870G>A	(Likely) benign	1 lab	05cc94ffa0
18:21134795 NPC1 C>T	18	21134795	21134795	C	T	NPC1	c.1480G>A	NM_000271.4	NP_000262.2:p.(Val494Met)	NC_000018.9:g.21134795C>T	(Likely) benign	1 lab	05ccdcc52c
1:151396628 POGZ AG>A	1	151396628	151396630	AG	A	POGZ	c.1319del	NM_015100.4	NP_055915.2:p.(Pro440LeufsTer30)	NC_000001.10:g.151396630del	(Likely) pathogenic	1 lab	05ce58e898
1:47753236 STIL A>G	1	47753236	47753236	A	G	STIL	c.1120T>C	NM_001048166.1	NP_001041631.1:p.(Phe374Leu)	NC_000001.10:g.47753236A>G	(Likely) benign	1 lab	05ce6563b2
15:42040984 MGA G>A	15	42040984	42040984	G	A	MGA	c.5362G>A	NM_001164273.1	NP_001157745.1:p.(Val1788Ile)	NC_000015.9:g.42040984G>A	(Likely) benign	1 lab	05ceb8fbff
14:75017841 LTBP2 G>A	14	75017841	75017841	G	A	LTBP2	c.1612C>T	NM_000428.2	NP_000419.1:p.(Arg538Trp)	NC_000014.8:g.75017841G>A	VUS	1 lab	05d1142ce6
4:111543554 PITX2 G>A	4	111543554	111543554	G	A	PITX2	c.63C>T	NM_000325.5	NP_000316.2:p.(Ala21=)	NC_000004.11:g.111543554G>A	(Likely) benign	1 lab	05d28230b4
6:152690199 SYNE1 G>C	6	152690199	152690199	G	C	SYNE1	c.9715C>G	NM_182961.3	NP_892006.3:p.(Gln3239Glu)	NC_000006.11:g.152690199G>C	VUS	1 lab	05d289dd00
13:39453026 FREM2 A>G	13	39453026	39453026	A	G	FREM2	c.8918A>G	NM_207361.5	NP_997244.4:p.(Lys2973Arg)	NC_000013.10:g.39453026A>G	(Likely) benign	1 lab	05d3cbd500
3:48605938 COL7A1 AC>A	3	48605938	48605940	AC	A	COL7A1	c.7787del	NM_000094.4	NP_000085.1:p.(Gly2596ValfsTer35)	NC_000003.11:g.48605940del	(Likely) pathogenic	1 lab	e04996d359
12:49436068 KMT2D G>A	12	49436068	49436068	G	A	KMT2D	c.5913C>T	NM_003482.3	NP_003473.3:p.(Ser1971=)	NC_000012.11:g.49436068G>A	(Likely) benign	1 lab	05d66b7e82
16:1634255 IFT140 C>T	16	1634255	1634255	C	T	IFT140	c.1322G>A	NM_014714.3	NP_055529.2:p.(Arg441His)	NC_000016.9:g.1634255C>T	(Likely) benign	1 lab	05d7098f1b
17:10551971 MYH3 T>G	17	10551971	10551971	T	G	MYH3	c.643-5A>C	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10551971T>G	(Likely) benign	1 lab	e04b343220
9:99064202 HSD17B3 C>CA	9	99064202	99064209	C	CA	HSD17B3	c.154+30dup	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99064209dup	(Likely) benign	1 lab	05d8906b88
12:80645885 OTOGL C>T	12	80645885	80645885	C	T	OTOGL	c.1162C>T	NM_173591.3	NP_775862.3:p.(Arg388Trp)	NC_000012.11:g.80645885C>T	VUS	1 lab	05d9052fac
7:117251656 CFTR A>G	7	117251656	117251656	A	G	CFTR	c.3161A>G	NM_000492.3	NP_000483.3:p.(His1054Arg)	NC_000007.13:g.117251656A>G	VUS	1 lab	05d9ae3ff8
2:27164896 DPYSL5 C>T	2	27164896	27164896	C	T	DPYSL5	c.1168C>T	NM_020134.4	NP_064519.2:p.(Arg390Cys)	NC_000002.11:g.27164896C>T	VUS	1 lab	e04d02114f
14:68242582 ZFYVE26 C>A	14	68242582	68242582	C	A	ZFYVE26	c.5216G>T	NM_015346.3	NP_056161.2:p.(Arg1739Leu)	NC_000014.8:g.68242582C>A	VUS	1 lab	05daee335c
1:97770925 DPYD T>C	1	97770925	97770925	T	C	DPYD	c.2189A>G	NM_000110.3	NP_000101.2:p.(Asn730Ser)	NC_000001.10:g.97770925T>C	(Likely) benign	1 lab	05dc3cb44a
20:17475368 BFSP1 T>C	20	17475368	17475368	T	C	BFSP1	c.1349A>G	NM_001195.4	NP_001186.1:p.(Glu450Gly)	NC_000020.10:g.17475368T>C	(Likely) benign	1 lab	05de1214b1
3:142238587 ATR T>C	3	142238587	142238587	T	C	ATR	c.4306A>G	NM_001184.3	NP_001175.2:p.(Asn1436Asp)	NC_000003.11:g.142238587T>C	(Likely) benign	1 lab	05de952d4e
5:37198881 CPLANE1 G>A	5	37198881	37198881	G	A	CPLANE1	c.3595C>T	NM_023073.3	NP_075561.3:p.(Arg1199Trp)	NC_000005.9:g.37198881G>A	VUS	1 lab	05e04e4a2e
1:119964679 HSD3B2 A>AC	1	119964679	119964682	A	AC	HSD3B2	c.558dup	NM_001166120.1	NP_001159592.1:p.(Thr187HisfsTer17)	NC_000001.10:g.119964682dup	(Likely) pathogenic	1 lab	05e2666112
19:10224669 P2RY11 G>A	19	10224669	10224669	G	A	P2RY11	c.380G>A	NM_002566.4	NP_002557.2:p.(Arg127His)	NC_000019.9:g.10224669G>A	VUS	1 lab	05e2c9b5c2
11:6645369 DCHS1 C>T	11	6645369	6645369	C	T	DCHS1				NC_000011.9:g.6645369C>T	(Likely) benign	1 lab	103dee065e
X:63413093 AMER1 G>A	X	63413093	63413093	G	A	AMER1	c.74C>T	NM_152424.4	NP_689637.3:p.(Ala25Val)	NC_000023.10:g.63413093G>A	(Likely) benign	1 lab	05e3dccc07
16:57974188 CNGB1 C>T	16	57974188	57974188	C	T	CNGB1	c.1159G>A	NM_001297.4	NP_001288.3:p.(Val387Met)	NC_000016.9:g.57974188C>T	VUS	1 lab	05e5064a70
10:97440220 TCTN3 A>C	10	97440220	97440220	A	C	TCTN3	c.1590+9T>G	NM_015631.5	NP_056446.4:p.?	NC_000010.10:g.97440220A>C	(Likely) benign	1 lab	05e5db8499
17:1412529 INPP5K C>T	17	1412529	1412529	C	T	INPP5K	c.269G>A	NM_001135642.1	NP_001129114.1:p.(Arg90Gln)	NC_000017.10:g.1412529C>T	(Likely) benign	1 lab	05e5e28004
21:35169810 ITSN1 G>A	21	35169810	35169810	G	A	ITSN1	c.2080G>A	NM_001331010.1	NP_001317939.1:p.(Glu694Lys)	NC_000021.8:g.35169810G>A	VUS	1 lab	05e6314005
5:142601945 ARHGAP26 C>T	5	142601945	142601945	C	T	ARHGAP26	c.2379C>T	NM_015071.6	NP_055886.1:p.(Gly793=)	NC_000005.9:g.142601945C>T	VUS	1 lab	05e730e8e5
X:119004980 RNF113A G>C	X	119004980	119004980	G	C	RNF113A	c.597C>G	NM_006978.2	NP_008909.1:p.(Pro199=)	NC_000023.10:g.119004980G>C	(Likely) benign	1 lab	05e7c546ed
7:143027868 CLCN1 T>C	7	143027868	143027868	T	C	CLCN1	c.857T>C	NM_000083.2	NP_000074.2:p.(Val286Ala)	NC_000007.13:g.143027868T>C	(Likely) pathogenic	1 lab	05e816c377
11:134037944 NCAPD3 T>C	11	134037944	134037944	T	C	NCAPD3	c.3520A>G	NM_015261.2	NP_056076.1:p.(Met1174Val)	NC_000011.9:g.134037944T>C	(Likely) benign	1 lab	05e819d6cd
7:107423752 SLC26A3 G>A	7	107423752	107423752	G	A	SLC26A3	c.1017C>T	NM_000111.2	NP_000102.1:p.(Thr339=)	NC_000007.13:g.107423752G>A	(Likely) benign	1 lab	05e8c4af15
1:12461730 VPS13D T>A	1	12461730	12461730	T	A	VPS13D	c.11854T>A	NM_015378.4	NP_056193.2:p.(Phe3952Ile)	NC_000001.10:g.12461730T>A	VUS	1 lab	05eb3573a8
17:29560067 NF1 G>T	17	29560067	29560067	G	T	NF1	c.3544G>T	NM_000267.3	NP_000258.1:p.(Val1182Phe)	NC_000017.10:g.29560067G>T	(Likely) pathogenic	1 lab	05ec052e5a
17:73754197 GALK1 G>A	17	73754197	73754197	G	A	GALK1	c.1119C>T	NM_000154.1	NP_000145.1:p.(Gly373=)	NC_000017.10:g.73754197G>A	(Likely) benign	1 lab	05ef205805
2:210642083 UNC80 G>A	2	210642083	210642083	G	A	UNC80	c.400G>A	NM_032504.1	NP_115893.1:p.(Gly134Ser)	NC_000002.11:g.210642083G>A	VUS	1 lab	05ef627e1e
11:105850302 GRIA4 C>T	11	105850302	105850302	C	T	GRIA4	c.2545C>T	NM_000829.4	NP_000820.4:p.(Leu849=)	NC_000011.9:g.105850302C>T	(Likely) benign	1 lab	e04fa9210f
11:67287381 CABP2 C>T	11	67287381	67287381	C	T	CABP2	c.538G>A	NM_001318496.1	NP_001305425.1:p.(Val180Met)	NC_000011.9:g.67287381C>T	VUS	1 lab	05f1ac26f5
3:121712199 ILDR1 C>T	3	121712199	121712199	C	T	ILDR1	c.1397G>A	NM_001199799.1	NP_001186728.1:p.(Arg466His)	NC_000003.11:g.121712199C>T	VUS	1 lab	05f2a890db
22:24129553 SMARCB1 GGC>G	22	24129553	24129569	GGC	G	SMARCB1	c.93+119_93+120del	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24129568_24129569del	(Likely) benign	1 lab	05f3ff1954
21:46925137 COL18A1 T>C	21	46925137	46925137	T	C	COL18A1	c.3489T>C	NM_030582.4	NP_085059.2:p.(Pro1163=)	NC_000021.8:g.46925137T>C	(Likely) benign	1 lab	05f5f4cb73
2:32692690 BIRC6 C>T	2	32692690	32692690	C	T	BIRC6	c.5454C>T	NM_016252.3	NP_057336.3:p.(Asp1818=)	NC_000002.11:g.32692690C>T	(Likely) benign	1 lab	05f618fe48
11:6629920 ILK C>G	11	6629920	6629920	C	G	ILK	c.352-4C>G	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6629920C>G	(Likely) benign	1 lab	05f87c1f86
16:70708278 MTSS2 A>G	16	70708278	70708278	A	G	MTSS2	c.984T>C	NM_138383.2	NP_612392.1:p.(Ser328=)	NC_000016.9:g.70708278A>G	(Likely) benign	1 lab	05f8e7cdfa
12:124197138 ATP6V0A2 C>T	12	124197138	124197138	C	T	ATP6V0A2	c.26C>T	NM_012463.4	NP_036595.2:p.(Thr9Ile)	NC_000012.11:g.124197138C>T	VUS	1 lab	e053b902d8
10:97967644 BLNK G>A	10	97967644	97967644	G	A	BLNK	c.758C>T	NM_013314.3	NP_037446.1:p.(Thr253Met)	NC_000010.10:g.97967644G>A	(Likely) benign	1 lab	060c4606b6
X:66766431 AR C>T	X	66766431	66766431	C	T	AR	c.1443C>T	NM_000044.4	NP_000035.2:p.(Tyr481=)	NC_000023.10:g.66766431C>T	(Likely) benign	1 lab	05faf284ff
11:66468513 SPTBN2 A>T	11	66468513	66468513	A	T	SPTBN2	c.3057T>A	NM_006946.3	NP_008877.1:p.(Thr1019=)	NC_000011.9:g.66468513A>T	(Likely) benign	1 lab	05fdbbb0f6
5:14488062 TRIO G>A	5	14488062	14488062	G	A	TRIO	c.7325G>A	NM_007118.3	NP_009049.2:p.(Gly2442Asp)	NC_000005.9:g.14488062G>A	VUS	1 lab	05ff937a07
10:27437835 YME1L1 C>T	10	27437835	27437835	C	T	YME1L1	c.168G>A	NM_139312.2	NP_647473.1:p.(Glu56=)	NC_000010.10:g.27437835C>T	(Likely) benign	1 lab	0600d0ad01
5:86637164 RASA1 G>GA	5	86637164	86637174	G	GA	RASA1	c.1049+36dup	NM_002890.2	NP_002881.1:p.?	NC_000005.9:g.86637174dup	(Likely) benign	1 lab	060151035e
5:150422157 TNIP1 G>C	5	150422157	150422157	G	C	TNIP1	c.1078C>G	NM_001252385.1	NP_001239314.1:p.(Gln360Glu)	NC_000005.9:g.150422157G>C	VUS	1 lab	06024ec1f6
3:45533222 LARS2 G>A	3	45533222	45533222	G	A	LARS2	c.1453G>A	NM_015340.4	NP_056155.1:p.(Ala485Thr)	NC_000003.11:g.45533222G>A	(Likely) benign	1 lab	06041ae5a6
2:96955533 SNRNP200 G>A	2	96955533	96955533	G	A	SNRNP200	c.2940+4C>T	NM_014014.4	NP_054733.2:p.?	NC_000002.11:g.96955533G>A	(Likely) benign	1 lab	06043f9051
11:119215111 C1QTNF5 G>T	11	119215111	119215111	G	T	C1QTNF5	c.-1738-10C>A	NM_015645.4	NP_056460.1:p.?	NC_000011.9:g.119215111G>T	(Likely) benign	1 lab	060482f9d6
16:2125834 TSC2 T>C	16	2125834	2125834	T	C	TSC2	c.2580T>C	NM_000548.3	NP_000539.2:p.(Phe860=)	NC_000016.9:g.2125834T>C	(Likely) benign	1 lab	060749c230
16:67863421 CENPT T>C	16	67863421	67863421	T	C	CENPT	c.1187-2A>G	NM_025082.4	NP_079358.3:p.?	NC_000016.9:g.67863421T>C	VUS	1 lab	0608fef412
4:16008295 PROM1 G>A	4	16008295	16008295	G	A	PROM1	c.1293C>T	NM_001145847.1	NP_001139319.1:p.(Val431=)	NC_000004.11:g.16008295G>A	(Likely) benign	1 lab	060ebb3b47
12:49428268 KMT2D A>T	12	49428268	49428268	A	T	KMT2D	c.10441-9T>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49428268A>T	(Likely) benign	1 lab	060f209945
15:57554394 TCF12 G>T	15	57554394	57554394	G	T	TCF12	c.1570G>T	NM_207037.1	NP_996920.1:p.(Glu524Ter)	NC_000015.9:g.57554394G>T	(Likely) pathogenic	1 lab	0610d5776c
11:18301495 HPS5 A>C	11	18301495	18301495	A	C	HPS5	c.3330-6T>G	NM_181507.1	NP_852608.1:p.?	NC_000011.9:g.18301495A>C	VUS	1 lab	06126f73e1
1:152284580 FLG C>A	1	152284580	152284580	C	A	FLG	c.2782G>T	NM_002016.1	NP_002007.1:p.(Ala928Ser)	NC_000001.10:g.152284580C>A	(Likely) benign	1 lab	0614f30ee2
1:197397091 CRB1 T>C	1	197397091	197397091	T	C	CRB1	c.2429T>C	NM_001257965.1	NP_001244894.1:p.(Val810Ala)	NC_000001.10:g.197397091T>C	VUS	1 lab	061545bd0d
X:153135647 L1CAM G>A	X	153135647	153135647	G	A	L1CAM	c.855C>T	NM_000425.4	NP_000416.1:p.(Ala285=)	NC_000023.10:g.153135647G>A	(Likely) benign	1 lab	06176bf497
2:220432098 OBSL1 C>T	2	220432098	220432098	C	T	OBSL1	c.1734G>A	NM_015311.2	NP_056126.1:p.(Pro578=)	NC_000002.11:g.220432098C>T	(Likely) benign	1 lab	06190b356c
17:29554225 NF1 T>G	17	29554225	29554225	T	G	NF1	c.2252-11T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554225T>G	(Likely) pathogenic	1 lab	0619f0b1c0
19:50906786 POLD1 G>A	19	50906786	50906786	G	A	POLD1	c.1174G>A	NM_001308632.1	NP_001295561.1:p.(Val392Met)	NC_000019.9:g.50906786G>A	VUS	1 lab	061b8f74d5
1:985266 AGRN C>T	1	985266	985266	C	T	AGRN	c.4745-17C>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.985266C>T	(Likely) benign	1 lab	e0594f81ae
17:78064182 CCDC40 A>G	17	78064182	78064182	A	G	CCDC40	c.3077A>G	NM_001243342.1	NP_001230271.1:p.(His1026Arg)	NC_000017.10:g.78064182A>G	(Likely) benign	1 lab	061c31b0a9
2:179582058 TTN G>A	2	179582058	179582058	G	A	TTN	c.25403C>T	NM_001267550.1	NP_001254479.1:p.(Ala8468Val)	NC_000002.11:g.179582058G>A	VUS	1 lab	061e80a8ff
3:57136593 IL17RD A>G	3	57136593	57136593	A	G	IL17RD	c.461T>C	NM_001318864.1	NP_001305793.1:p.(Ile154Thr)	NC_000003.11:g.57136593A>G	(Likely) benign	1 lab	061ebe1608
20:10627772 JAG1 C>T	20	10627772	10627772	C	T	JAG1	c.1721-21G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10627772C>T	(Likely) benign	1 lab	06201348cc
X:152818613 ATP2B3 C>T	X	152818613	152818613	C	T	ATP2B3	c.1944C>T	NM_021949.3	NP_068768.2:p.(Ile648=)	NC_000023.10:g.152818613C>T	(Likely) benign	1 lab	0621606590
8:145738594 RECQL4 T>G	8	145738594	145738594	T	G	RECQL4	c.2463+7A>C	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738594T>G	(Likely) benign	1 lab	0624dec18a
5:176684146 NSD1 TC>T	5	176684146	176684147	TC	T	NSD1	c.4961del	NM_022455.5	NP_071900.2:p.(Ser1654LeufsTer5)	NC_000005.9:g.176684147del	(Likely) pathogenic	1 lab	0626e4ae26
17:42336632 SLC4A1 GCAGCTCCACCGCCTC>G	17	42336632	42336654	GCAGCTCCACCGCCTC	G	SLC4A1	c.760_774del	NM_000342.4	NP_000333.1:p.(Glu254_Leu258del)	NC_000017.10:g.42336640_42336654del	VUS	1 lab	0628383575
16:2550418 TBC1D24 C>T	16	2550418	2550418	C	T	TBC1D24	c.1452C>T	NM_001199107.1	NP_001186036.1:p.(Ala484=)	NC_000016.9:g.2550418C>T	(Likely) benign	1 lab	0628aafefe
8:100865746 VPS13B C>T	8	100865746	100865746	C	T	VPS13B	c.10204C>T	NM_017890.4	NP_060360.3:p.(Leu3402Phe)	NC_000008.10:g.100865746C>T	VUS	1 lab	062b5ee36e
X:69615827 KIF4A G>A	X	69615827	69615827	G	A	KIF4A	c.2417G>A	NM_012310.4	NP_036442.3:p.(Arg806His)	NC_000023.10:g.69615827G>A	(Likely) benign	1 lab	062c2fdd65
X:54159278 FAM120C C>T	X	54159278	54159278	C	T	FAM120C	c.1909G>A	NM_017848.5	NP_060318.4:p.(Val637Ile)	NC_000023.10:g.54159278C>T	(Likely) benign	1 lab	062d8e2a0d
X:152991282 ABCD1 C>T	X	152991282	152991282	C	T	ABCD1	c.561C>T	NM_000033.3	NP_000024.2:p.(Asp187=)	NC_000023.10:g.152991282C>T	(Likely) benign	1 lab	062d8f984c
7:4823095 AP5Z1 C>T	7	4823095	4823095	C	T	AP5Z1	c.511+4C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4823095C>T	(Likely) benign	1 lab	e05b60e1bd
2:62067235 FAM161A G>A	2	62067235	62067235	G	A	FAM161A	c.904C>T	NM_001201543.1	NP_001188472.1:p.(Gln302Ter)	NC_000002.11:g.62067235G>A	(Likely) pathogenic	1 lab	062f48a1d6
3:186256686 CRYGS G>A	3	186256686	186256686	G	A	CRYGS	c.336C>T	NM_017541.3	NP_060011.1:p.(Thr112=)	NC_000003.11:g.186256686G>A	(Likely) benign	1 lab	0631024e05
10:8097834 GATA3 G>T	10	8097834	8097834	G	T	GATA3	c.216G>T	NM_001002295.1	NP_001002295.1:p.(Val72=)	NC_000010.10:g.8097834G>T	(Likely) benign	1 lab	06323137f1
16:21281103 CRYM G>C	16	21281103	21281103	G	C	CRYM	c.489+8C>G	NM_001888.4	NP_001879.1:p.?	NC_000016.9:g.21281103G>C	(Likely) benign	1 lab	063290a98f
1:97700547 DPYD G>T	1	97700547	97700547	G	T	DPYD	c.2303C>A	NM_000110.3	NP_000101.2:p.(Thr768Lys)	NC_000001.10:g.97700547G>T	VUS	1 lab	063307ed12
3:57323133 ASB14 G>A	3	57323133	57323133	G	A	ASB14	c.141C>T	NM_001142733.2	NP_001136205.2:p.(Ser47=)	NC_000003.11:g.57323133G>A	(Likely) benign	1 lab	063414ff67
19:44055784 XRCC1 T>C	19	44055784	44055784	T	C	XRCC1	c.1138A>G	NM_006297.2	NP_006288.2:p.(Ile380Val)	NC_000019.9:g.44055784T>C	VUS	1 lab	063649d112
2:108487266 RGPD4 G>A	2	108487266	108487266	G	A	RGPD4	c.2806G>A	NM_182588.2	NP_872394.2:p.(Glu936Lys)	NC_000002.11:g.108487266G>A	(Likely) benign	1 lab	06364dcec1
11:17631573 OTOG A>G	11	17631573	17631573	A	G	OTOG	c.4762A>G	NM_001277269.1	NP_001264198.1:p.(Thr1588Ala)	NC_000011.9:g.17631573A>G	(Likely) benign	1 lab	06374275ef
8:144999537 PLEC G>A	8	144999537	144999537	G	A	PLEC	c.4971C>T	NM_201380.3	NP_958782.1:p.(Arg1657=)	NC_000008.10:g.144999537G>A	(Likely) benign	1 lab	0638d6fc0c
14:88893003 SPATA7 A>G	14	88893003	88893003	A	G	SPATA7	c.800A>G	NM_018418.4	NP_060888.2:p.(Asp267Gly)	NC_000014.8:g.88893003A>G	VUS	1 lab	06393d57f5
2:209190515 PIKFYVE G>A	2	209190515	209190515	G	A	PIKFYVE	c.2980G>A	NM_015040.3	NP_055855.2:p.(Glu994Lys)	NC_000002.11:g.209190515G>A	(Likely) benign	1 lab	063ec0cbcf
6:43005451 CUL7 G>A	6	43005451	43005451	G	A	CUL7	c.5324C>T	NM_001168370.1	NP_001161842.1:p.(Thr1775Ile)	NC_000006.11:g.43005451G>A	(Likely) benign	1 lab	063f96bd9a
X:65478753 HEPH A>G	X	65478753	65478753	A	G	HEPH	c.2977A>G	NM_001130860.3	NP_001124332.1:p.(Met993Val)	NC_000023.10:g.65478753A>G	VUS	1 lab	06423d4c11
X:139038550 CXorf66 C>T	X	139038550	139038550	C	T	CXorf66	c.591G>A	NM_001013403.2	NP_001013421.1:p.(Ala197=)	NC_000023.10:g.139038550C>T	(Likely) benign	1 lab	0644de5ecb
17:29652853 NF1 A>G	17	29652853	29652853	A	G	NF1	c.4788A>G	NM_000267.3	NP_000258.1:p.(Gln1596=)	NC_000017.10:g.29652853A>G	(Likely) benign	1 lab	0645196c05
21:46896381 COL18A1 G>T	21	46896381	46896381	G	T	COL18A1	c.915G>T	NM_130445.2	NP_569712.2:p.(Val305=)	NC_000021.8:g.46896381G>T	(Likely) benign	1 lab	06478684fd
20:25284236 ABHD12 T>A	20	25284236	25284236	T	A	ABHD12	c.979A>T	NM_001042472.3	NP_001035937.1:p.(Ile327Phe)	NC_000020.10:g.25284236T>A	VUS	1 lab	0647878ef1
5:150942985 FAT2 G>T	5	150942985	150942985	G	T	FAT2	c.3475C>A	NM_001447.2	NP_001438.1:p.(Leu1159Met)	NC_000005.9:g.150942985G>T	VUS	1 lab	0648797297
15:101445802 ALDH1A3 C>T	15	101445802	101445802	C	T	ALDH1A3	c.1143C>T	NM_000693.3	NP_000684.2:p.(Cys381=)	NC_000015.9:g.101445802C>T	(Likely) benign	1 lab	064981fa08
11:118355612 KMT2A A>T	11	118355612	118355612	A	T	KMT2A	c.4254A>T	NM_001197104.1	NP_001184033.1:p.(Gly1418=)	NC_000011.9:g.118355612A>T	(Likely) benign	1 lab	064a019a24
19:42776664 CIC T>C	19	42776664	42776664	T	C	CIC	c.729T>C	NM_001304815.1	NP_001291744.1:p.(Tyr243=)	NC_000019.9:g.42776664T>C	(Likely) benign	1 lab	064b01d553
X:18942577 PHKA2 C>T	X	18942577	18942577	C	T	PHKA2	c.1636G>A	NM_000292.2	NP_000283.1:p.(Glu546Lys)	NC_000023.10:g.18942577C>T	VUS	1 lab	064c0c5676
15:62211574 VPS13C G>A	15	62211574	62211574	G	A	VPS13C	c.7552C>T	NM_001018088.2	NP_001018098.1:p.(Pro2518Ser)	NC_000015.9:g.62211574G>A	VUS	1 lab	064d76dc5e
9:33135318 B4GALT1 C>T	9	33135318	33135318	C	T	B4GALT1	c.517G>A	NM_001497.3	NP_001488.2:p.(Val173Ile)	NC_000009.11:g.33135318C>T	(Likely) benign	1 lab	064e53b5c5
9:103054933 INVS C>G	9	103054933	103054933	C	G	INVS	c.2106C>G	NM_001318381.1	NP_001305310.1:p.(Leu702=)	NC_000009.11:g.103054933C>G	(Likely) benign	1 lab	064eced695
11:121475038 SORL1 G>A	11	121475038	121475038	G	A	SORL1	c.4651+5G>A	NM_003105.5	NP_003096.1:p.?	NC_000011.9:g.121475038G>A	(Likely) benign	1 lab	064f0c913c
17:29654683 NF1 TCATGCACCAGGAGTG>CC	17	29654683	29654698	TCATGCACCAGGAGTG	CC	NF1	c.5372_5387delinsCC	NM_000267.3	NP_000258.1:p.(Phe1791SerfsTer2)	NC_000017.10:g.29654683_29654698delinsCC	(Likely) pathogenic	1 lab	0650311af7
12:48380868 COL2A1 C>A	12	48380868	48380868	C	A	COL2A1	c.1358G>T	NM_001844.4	NP_001835.3:p.(Gly453Val)	NC_000012.11:g.48380868C>A	(Likely) pathogenic	1 lab	0650787df0
3:178936002 PIK3CA A>G	3	178936002	178936002	A	G	PIK3CA	c.1544A>G	NM_006218.2	NP_006209.2:p.(Asn515Ser)	NC_000003.11:g.178936002A>G	(Likely) benign	1 lab	06515cf5de
15:63932399 HERC1 G>A	15	63932399	63932399	G	A	HERC1	c.11853C>T	NM_003922.3	NP_003913.3:p.(Thr3951=)	NC_000015.9:g.63932399G>A	(Likely) benign	1 lab	06528da771
2:191524350 NAB1 C>A	2	191524350	191524350	C	A	NAB1	c.448C>A	NM_005966.4	NP_005957.2:p.(Leu150Ile)	NC_000002.11:g.191524350C>A	(Likely) benign	1 lab	06537e5c58
17:5463285 NLRP1 G>A	17	5463285	5463285	G	A	NLRP1	c.731C>T	NM_033004.4	NP_127497.1:p.(Ala244Val)	NC_000017.10:g.5463285G>A	VUS	1 lab	0654badbe8
9:139369984 SEC16A G>A	9	139369984	139369984	G	A	SEC16A	c.2084C>T	NM_014866.1	NP_055681.1:p.(Pro695Leu)	NC_000009.11:g.139369984G>A	VUS	1 lab	065539d6e8
17:29665760 NF1 CAGTCA>C	17	29665760	29665768	CAGTCA	C	NF1	c.6862_6866del	NM_001042492.3	NP_001035957.1:p.(Gln2288SerfsTer17)	NC_000017.10:g.29665764_29665768del	(Likely) pathogenic	1 lab	0655ebb583
16:88500855 ZNF469 ACTC>A	16	88500855	88500861	ACTC	A	ZNF469	c.6981_6983del	NM_001367624.2	NP_001354553.1:p.(Ser2328del)	NC_000016.9:g.88500859_88500861del	VUS	1 lab	065649c010
3:124456931 UMPS G>A	3	124456931	124456931	G	A	UMPS	c.827G>A	NM_000373.3	NP_000364.1:p.(Ser276Asn)	NC_000003.11:g.124456931G>A	(Likely) benign	1 lab	0657209c8f
11:6651340 DCHS1 G>A	11	6651340	6651340	G	A	DCHS1				NC_000011.9:g.6651340G>A	(Likely) benign	1 lab	06575e07d5
20:35555600 SAMHD1 C>T	20	35555600	35555600	C	T	SAMHD1	c.681G>A	NM_015474.3	NP_056289.2:p.(Pro227=)	NC_000020.10:g.35555600C>T	(Likely) benign	1 lab	0659ce1477
16:2121499 TSC2 TCTTCCTGACAGGCCTTTGA>T	16	2121499	2121525	TCTTCCTGACAGGCCTTTGA	T	TSC2	c.1840-4_1854del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2121507_2121525del	(Likely) pathogenic	1 lab	065bd48cb7
16:89999920 TUBB3 G>A	16	89999920	89999920	G	A	TUBB3	c.211G>A	NM_006086.4	NP_006077.2:p.(Gly71Arg)	NC_000016.9:g.89999920G>A	VUS	1 lab	065c68707d
X:63412553 AMER1 T>C	X	63412553	63412553	T	C	AMER1	c.614A>G	NM_152424.4	NP_689637.3:p.(His205Arg)	NC_000023.10:g.63412553T>C	(Likely) benign	1 lab	065f4c569c
13:26151285 ATP8A2 C>T	13	26151285	26151285	C	T	ATP8A2	c.1782+9C>T	NM_016529.5	NP_057613.4:p.?	NC_000013.10:g.26151285C>T	(Likely) benign	1 lab	065f9c498d
10:31810038 ZEB1 T>C	10	31810038	31810038	T	C	ZEB1	c.1121T>C	NM_001323638.1	NP_001310567.1:p.(Leu374Pro)	NC_000010.10:g.31810038T>C	VUS	1 lab	06619cc194
12:57637941 STAC3 CG>C	12	57637941	57637942	CG	C	STAC3	c.925del	NM_145064.3	NP_659501.1:p.(Arg309ValfsTer5)	NC_000012.11:g.57637942del	VUS	1 lab	0661d1bec1
2:225379425 CUL3 C>T	2	225379425	225379425	C	T	CUL3	c.443G>A	NM_003590.4	NP_003581.1:p.(Arg148Gln)	NC_000002.11:g.225379425C>T	VUS	1 lab	0662b57865
18:6949213 LAMA1 C>T	18	6949213	6949213	C	T	LAMA1	c.8443G>A	NM_005559.3	NP_005550.2:p.(Gly2815Ser)	NC_000018.9:g.6949213C>T	VUS	1 lab	066471aab2
19:9074754 MUC16 G>A	19	9074754	9074754	G	A	MUC16	c.12692C>T	NM_024690.2	NP_078966.2:p.(Thr4231Ile)	NC_000019.9:g.9074754G>A	VUS	1 lab	06647fe65a
4:183652082 TENM3 A>G	4	183652082	183652082	A	G	TENM3	c.2757A>G	NM_001080477.3	NP_001073946.1:p.(Arg919=)	NC_000004.11:g.183652082A>G	(Likely) benign	1 lab	066609dcd6
2:26689965 OTOF A>G	2	26689965	26689965	A	G	OTOF	c.4362+2T>C	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26689965A>G	(Likely) pathogenic	1 lab	066617b89c
4:101953425 PPP3CA G>A	4	101953425	101953425	G	A	PPP3CA	c.1338C>T	NM_000944.5	NP_000935.1:p.(Ser446=)	NC_000004.11:g.101953425G>A	(Likely) benign	1 lab	0667cd1930
2:29296261 PCARE G>A	2	29296261	29296261	G	A	PCARE	c.867C>T	NM_001029883.2	NP_001025054.1:p.(Thr289=)	NC_000002.11:g.29296261G>A	(Likely) benign	1 lab	0668cc2530
1:1452703 ATAD3A G>A	1	1452703	1452703	G	A	ATAD3A	c.295G>A	NM_001170535.3	NP_001164006.1:p.(Ala99Thr)	NC_000001.10:g.1452703G>A	VUS	1 lab	e0617b2d91
16:15831386 MYH11 G>A	16	15831386	15831386	G	A	MYH11	c.3234C>T	NM_001040113.1	NP_001035202.1:p.(Ile1078=)	NC_000016.9:g.15831386G>A	(Likely) benign	1 lab	066d9533e8
5:42711281 GHR A>G	5	42711281	42711281	A	G	GHR	c.619-28A>G	NM_000163.4	NP_000154.1:p.?	NC_000005.9:g.42711281A>G	(Likely) benign	1 lab	066e3fe7c7
17:76440823 DNAH17 G>A	17	76440823	76440823	G	A	DNAH17	c.11391C>T	NM_173628.3	NP_775899.3:p.(Ala3797=)	NC_000017.10:g.76440823G>A	(Likely) benign	1 lab	066e4362ed
8:10465229 RP1L1 GCTGGGCCTCCCCTTCAGTCTCTGGGGCCTCTATACCTTCTGCCTT>G	8	10465229	10465289	GCTGGGCCTCCCCTTCAGTCTCTGGGGCCTCTATACCTTCTGCCTT	G	RP1L1	c.6334_6378del	NM_178857.6	NP_849188.4:p.(Lys2112_Gln2126del)	NC_000008.10:g.10465245_10465289del	VUS	1 lab	06716976ea
17:29557888 NF1 T>G	17	29557888	29557888	T	G	NF1	c.3142T>G	NM_000267.3	NP_000258.1:p.(Trp1048Gly)	NC_000017.10:g.29557888T>G	(Likely) pathogenic	1 lab	0671be6fc3
9:5123074 JAK2 C>T	9	5123074	5123074	C	T	JAK2	c.3130C>T	NM_001322194.1	NP_001309123.1:p.(Leu1044=)	NC_000009.11:g.5123074C>T	(Likely) benign	1 lab	06735cd6c4
20:61455814 COL9A3 G>A	20	61455814	61455814	G	A	COL9A3	c.537G>A	NM_001853.4	NP_001844.3:p.(Pro179=)	NC_000020.10:g.61455814G>A	(Likely) benign	1 lab	06738b7a34
7:35077432 DPY19L1 C>T	7	35077432	35077432	C	T	DPY19L1	c.77G>A	NM_015283.1	NP_056098.1:p.(Arg26Lys)	NC_000007.13:g.35077432C>T	(Likely) benign	1 lab	0675d9ebcd
19:4556052 SEMA6B G>A	19	4556052	4556052	G	A	SEMA6B	c.419C>T	NM_032108.4	NP_115484.2:p.(Thr140Met)	NC_000019.9:g.4556052G>A	VUS	1 lab	e061978074
2:98354342 ZAP70 C>T	2	98354342	98354342	C	T	ZAP70	c.1605C>T	NM_001079.3	NP_001070.2:p.(Tyr535=)	NC_000002.11:g.98354342C>T	(Likely) benign	1 lab	06771f8828
1:155348337 MISSING T>A	1	155348337	155348337	T	A	MISSING				NC_000001.10:g.155348337T>A	(Likely) benign	1 lab	0677fd3b10
15:63335919 TPM1 C>G	15	63335919	63335919	C	G	TPM1	c.129C>G	NM_001018007.2	NP_001018007.1:p.(Ile43Met)	NC_000015.9:g.63335919C>G	(Likely) benign	1 lab	e062ee8c69
8:31012183 WRN C>T	8	31012183	31012183	C	T	WRN	c.3731C>T	NM_000553.4	NP_000544.2:p.(Thr1244Met)	NC_000008.10:g.31012183C>T	(Likely) benign	1 lab	067a341048
17:4835995 GP1BA C>T	17	4835995	4835995	C	T	GP1BA	c.96C>T	NM_000173.5	NP_000164.5:p.(Asn32=)	NC_000017.10:g.4835995C>T	(Likely) benign	1 lab	067a9d235c
5:150886788 FAT2 G>A	5	150886788	150886788	G	A	FAT2	c.12444C>T	NM_001447.2	NP_001438.1:p.(Leu4148=)	NC_000005.9:g.150886788G>A	(Likely) benign	1 lab	067ae88705
9:135211776 SETX C>T	9	135211776	135211776	C	T	SETX	c.625G>A	NM_015046.5	NP_055861.3:p.(Asp209Asn)	NC_000009.11:g.135211776C>T	VUS	1 lab	067b2a354f
2:27590316 EIF2B4 C>G	2	27590316	27590316	C	G	EIF2B4	c.840+8G>C	NM_001318966.1	NP_001305895.1:p.?	NC_000002.11:g.27590316C>G	(Likely) benign	1 lab	067b57a1d7
16:51174831 SALL1 AGTGACATTTG>A	16	51174831	51174844	AGTGACATTTG	A	SALL1	c.1292_1301del	NM_002968.3	NP_002959.2:p.(Pro431LeufsTer59)	NC_000016.9:g.51174835_51174844del	(Likely) pathogenic	1 lab	067ee2fc2d
3:111950254 SLC9C1 G>C	3	111950254	111950254	G	C	SLC9C1	c.1526C>G	NM_183061.3	NP_898884.1:p.(Thr509Ser)	NC_000003.11:g.111950254G>C	(Likely) benign	1 lab	06808e35ba
21:38309426 HLCS G>A	21	38309426	38309426	G	A	HLCS	c.319C>T	NM_001242784.2	NP_001229713.1:p.(His107Tyr)	NC_000021.8:g.38309426G>A	VUS	1 lab	0680a53fe5
13:77570241 CLN5 G>A	13	77570241	77570241	G	A	CLN5	c.691G>A	NM_006493.2	NP_006484.1:p.(Val231Ile)	NC_000013.10:g.77570241G>A	VUS	1 lab	0681b79770
9:134394337 POMT1 C>T	9	134394337	134394337	C	T	POMT1	c.1545C>T	NM_007171.3	NP_009102.3:p.(Tyr515=)	NC_000009.11:g.134394337C>T	(Likely) benign	1 lab	0681d437f5
X:118222161 KIAA1210 ACT>A	X	118222161	118222168	ACT	A	KIAA1210	c.2502_2503del	NM_001394962.1	NP_001381891.1:p.(Arg834SerfsTer31)	NC_000023.10:g.118222167_118222168del	VUS	1 lab	068674b9d6
10:55568876 PCDH15 G>A	10	55568876	55568876	G	A	PCDH15	c.4949C>T	NM_001142769.2	NP_001136241.1:p.(Ser1650Leu)	NC_000010.10:g.55568876G>A	(Likely) benign	1 lab	068bf08fbc
2:170038097 LRP2 C>T	2	170038097	170038097	C	T	LRP2	c.10030G>A	NM_004525.3	NP_004516.2:p.(Ala3344Thr)	NC_000002.11:g.170038097C>T	(Likely) benign	1 lab	068bf7a581
7:193717 FAM20C C>A	7	193717	193717	C	A	FAM20C	c.518C>A	NM_020223.4	NP_064608.2:p.(Ala173Glu)	NC_000007.13:g.193717C>A	VUS	1 lab	e122d0b730
9:101812006 COL15A1 CT>C	9	101812006	101812007	CT	C	COL15A1	c.2829del	NM_001855.5	NP_001846.3:p.(Pro945HisfsTer5)	NC_000009.11:g.101812007del	VUS	1 lab	068cc0d56c
5:77412020 AP3B1 C>A	5	77412020	77412020	C	A	AP3B1	c.1860G>T	NM_001271769.1	NP_001258698.1:p.(Glu620Asp)	NC_000005.9:g.77412020C>A	VUS	1 lab	068f588712
1:150530561 ADAMTSL4 A>G	1	150530561	150530561	A	G	ADAMTSL4	c.2387A>G	NM_001288608.1	NP_001275537.1:p.(Asn796Ser)	NC_000001.10:g.150530561A>G	VUS	1 lab	0691a08e5b
3:196529916 PAK2 T>C	3	196529916	196529916	T	C	PAK2	c.317T>C	NM_002577.4	NP_002568.2:p.(Leu106Pro)	NC_000003.11:g.196529916T>C	VUS	1 lab	06941d9f99
7:138602218 KIAA1549 T>C	7	138602218	138602218	T	C	KIAA1549	c.2154A>G	NM_001164665.1	NP_001158137.1:p.(Pro718=)	NC_000007.13:g.138602218T>C	(Likely) benign	1 lab	069529c0cd
20:61939410 COL20A1 G>A	20	61939410	61939410	G	A	COL20A1	c.743G>A	NM_020882.2	NP_065933.2:p.(Arg248His)	NC_000020.10:g.61939410G>A	(Likely) benign	1 lab	069587f7dd
20:21687305 PAX1 C>T	20	21687305	21687305	C	T	PAX1	c.516C>T	NM_001257096.1	NP_001244025.1:p.(Val172=)	NC_000020.10:g.21687305C>T	(Likely) benign	1 lab	069a834980
3:122354766 PARP15 G>A	3	122354766	122354766	G	A	PARP15	c.1856G>A	NM_001113523.3	NP_001106995.1:p.(Arg619Gln)	NC_000003.11:g.122354766G>A	VUS	1 lab	069b5eb431
5:41154005 C6 G>A	5	41154005	41154005	G	A	C6	c.2197C>T	NM_001115131.2	NP_001108603.2:p.(Pro733Ser)	NC_000005.9:g.41154005G>A	VUS	1 lab	069b6fa981
X:148571962 IDS G>GAAAAAAAATAAAAT	X	148571962	148571963	G	GAAAAAAAATAAAAT	IDS	c.888_889insATTTTATTTTTTTT	NM_000202.7	NP_000193.1:p.(Arg297IlefsTer24)	NC_000023.10:g.148571962_148571963insAAAAAAAATAAAAT	(Likely) pathogenic	1 lab	069c30235e
4:6303709 WFS1 C>T	4	6303709	6303709	C	T	WFS1	c.2187C>T	NM_006005.3	NP_005996.2:p.(Asp729=)	NC_000004.11:g.6303709C>T	(Likely) benign	1 lab	069cf0c9c5
3:147127924 ZIC1 T>C	3	147127924	147127924	T	C	ZIC1	c.25T>C	NM_003412.3	NP_003403.2:p.(Tyr9His)	NC_000003.11:g.147127924T>C	VUS	1 lab	069d7ef1b5
5:140625389 PCDHB15 C>A	5	140625389	140625389	C	A	PCDHB15	c.243C>A	NM_018935.4	NP_061758.1:p.(Thr81=)	NC_000005.9:g.140625389C>A	(Likely) benign	1 lab	069daee69d
4:79432500 FRAS1 C>T	4	79432500	79432500	C	T	FRAS1	c.9853C>T	NM_025074.7	NP_079350.5:p.(His3285Tyr)	NC_000004.11:g.79432500C>T	VUS	1 lab	069dc973c3
4:113568912 LARP7 CAA>C	4	113568912	113568917	CAA	C	LARP7	c.1089_1090del	NM_001267039.2	NP_001253968.1:p.(Arg364GlufsTer3)	NC_000004.11:g.113568916_113568917del	(Likely) pathogenic	1 lab	e068876da9
7:4830466 AP5Z1 C>G	7	4830466	4830466	C	G	AP5Z1	c.2101C>G	NM_014855.3	NP_055670.1:p.(Leu701Val)	NC_000007.13:g.4830466C>G	VUS	1 lab	069e0790b3
4:113568359 LARP7 G>C	4	113568359	113568359	G	C	LARP7	c.672G>C	NM_001267039.2	NP_001253968.1:p.(Glu224Asp)	NC_000004.11:g.113568359G>C	(Likely) benign	1 lab	e06e03456e
11:1718635 KRTAP5-6 G>C	11	1718635	1718635	G	C	KRTAP5-6	c.160G>C	NM_001012416.1	NP_001012416.1:p.(Gly54Arg)	NC_000011.9:g.1718635G>C	VUS	1 lab	06a0620abe
19:14031368 CC2D1A A>C	19	14031368	14031368	A	C	CC2D1A	c.1357-2A>C	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14031368A>C	VUS	1 lab	06a0c07c21
1:216166366 USH2A C>T	1	216166366	216166366	C	T	USH2A	c.6801G>A	NM_206933.2	NP_996816.2:p.(Pro2267=)	NC_000001.10:g.216166366C>T	(Likely) benign	1 lab	06a0f6f395
12:58114598 OS9 G>A	12	58114598	58114598	G	A	OS9	c.1910G>A	NM_006812.3	NP_006803.1:p.(Arg637His)	NC_000012.11:g.58114598G>A	VUS	1 lab	06a1e06f91
2:232081344 ARMC9 C>T	2	232081344	232081344	C	T	ARMC9	c.349-7C>T	NM_001271466.3	NP_001258395.1:p.?	NC_000002.11:g.232081344C>T	(Likely) benign	1 lab	06a52e6dd0
17:39346665 KRTAP9-1 G>A	17	39346665	39346665	G	A	KRTAP9-1	c.527G>A	NM_001190460.1	NP_001177389.1:p.(Cys176Tyr)	NC_000017.10:g.39346665G>A	(Likely) benign	1 lab	06a71cf048
7:5097029 RBAK-RBAKDN A>C	7	5097029	5097029	A	C	RBAK-RBAKDN	c.119A>C	NM_001204513.2	NP_001191442.1:p.(Asn40Thr)	NC_000007.13:g.5097029A>C	VUS	1 lab	06a7b6e511
13:25484134 CPAP G>A	13	25484134	25484134	G	A	CPAP	c.659C>T	NM_018451.4	NP_060921.3:p.(Ser220Leu)	NC_000013.10:g.25484134G>A	(Likely) benign	1 lab	06a81fd5a7
12:39705271 KIF21A T>C	12	39705271	39705271	T	C	KIF21A	c.4044A>G	NM_001173464.1	NP_001166935.1:p.(Lys1348=)	NC_000012.11:g.39705271T>C	(Likely) benign	1 lab	06a8b18cde
X:135829660 ARHGEF6 G>A	X	135829660	135829660	G	A	ARHGEF6	c.334+7C>T	NM_004840.2	NP_004831.1:p.?	NC_000023.10:g.135829660G>A	(Likely) benign	1 lab	06aa98c5fa
6:35477037 TULP1 C>T	6	35477037	35477037	C	T	TULP1	c.771G>A	NM_003322.5	NP_003313.3:p.(Thr257=)	NC_000006.11:g.35477037C>T	(Likely) benign	1 lab	06ad595cbb
22:26224816 MYO18B C>A	22	26224816	26224816	C	A	MYO18B	c.2860C>A	NM_001318245.1	NP_001305174.1:p.(His954Asn)	NC_000022.10:g.26224816C>A	VUS	1 lab	06adf82b24
5:149357689 SLC26A2 T>C	5	149357689	149357689	T	C	SLC26A2	c.474T>C	NM_000112.3	NP_000103.2:p.(Arg158=)	NC_000005.9:g.149357689T>C	(Likely) benign	1 lab	06aed27d21
15:86278249 AKAP13 G>A	15	86278249	86278249	G	A	AKAP13	c.7321G>A	NM_006738.5	NP_006729.4:p.(Gly2441Arg)	NC_000015.9:g.86278249G>A	VUS	1 lab	06b1363108
7:43906348 MRPS24 G>C	7	43906348	43906348	G	C	MRPS24	c.454C>G	NM_032014.3	NP_114403.1:p.(Arg152Gly)	NC_000007.13:g.43906348G>C	VUS	1 lab	06b16066d3
8:62588723 ASPH T>TTTC	8	62588723	62588742	T	TTTC	ASPH	c.520_522dup	NM_001164756.1	NP_001158228.1:p.(Glu174dup)	NC_000008.10:g.62588740_62588742dup	(Likely) benign	1 lab	06b295d1bc
4:73184290 ADAMTS3 G>A	4	73184290	73184290	G	A	ADAMTS3	c.1484C>T	NM_014243.2	NP_055058.2:p.(Ala495Val)	NC_000004.11:g.73184290G>A	VUS	1 lab	06b4671a0c
17:79852446 ANAPC11 C>T	17	79852446	79852446	C	T	ANAPC11	c.93C>T	NM_001002244.2	NP_001002244.1:p.(Asn31=)	NC_000017.10:g.79852446C>T	(Likely) benign	1 lab	06b494dd5f
6:32549596 HLA-DRB1 T>C	6	32549596	32549596	T	C	HLA-DRB1	c.390A>G	NM_002124.4	NP_002115.2:p.(Val130=)	NC_000006.11:g.32549596T>C	(Likely) benign	1 lab	e06f914f2d
8:17924735 ASAH1 G>T	8	17924735	17924735	G	T	ASAH1	c.376C>A	NM_177924.5	NP_808592.2:p.(Pro126Thr)	NC_000008.10:g.17924735G>T	VUS	1 lab	06b62dcaf6
3:129324443 PLXND1 C>A	3	129324443	129324443	C	A	PLXND1	c.1040G>T	NM_015103.3	NP_055918.3:p.(Gly347Val)	NC_000003.11:g.129324443C>A	VUS	1 lab	e070deacab
X:28807472 IL1RAPL1 G>A	X	28807472	28807472	G	A	IL1RAPL1	c.12G>A	NM_014271.3	NP_055086.1:p.(Pro4=)	NC_000023.10:g.28807472G>A	(Likely) benign	1 lab	06b7d21d9b
9:32542056 TOPORS T>C	9	32542056	32542056	T	C	TOPORS	c.2467A>G	NM_005802.4	NP_005793.2:p.(Ser823Gly)	NC_000009.11:g.32542056T>C	(Likely) benign	1 lab	06b824b9fd
2:179635328 TTN T>C	2	179635328	179635328	T	C	TTN	c.8191A>G	NM_001267550.2	NP_001254479.2:p.(Thr2731Ala)	NC_000002.11:g.179635328T>C	VUS	1 lab	e07115bd42
11:67223856 CABP4 G>C	11	67223856	67223856	G	C	CABP4	c.484G>C	NM_145200.3	NP_660201.1:p.(Gly162Arg)	NC_000011.9:g.67223856G>C	VUS	1 lab	06bce26f6a
16:2153508 PKD1 C>T	16	2153508	2153508	C	T	PKD1	c.8550G>A	NM_001009944.2	NP_001009944.2:p.(Ser2850=)	NC_000016.9:g.2153508C>T	(Likely) benign	1 lab	06bd1af246
2:170059343 LRP2 C>T	2	170059343	170059343	C	T	LRP2	c.8132G>A	NM_004525.3	NP_004516.2:p.(Arg2711His)	NC_000002.11:g.170059343C>T	(Likely) benign	1 lab	06bd9613a9
1:161131870 USP21 C>T	1	161131870	161131870	C	T	USP21	c.643C>T	NM_001014443.3	NP_001014443.1:p.(Arg215Ter)	NC_000001.10:g.161131870C>T	VUS	1 lab	06bed3fbc9
14:45658292 FANCM G>A	14	45658292	45658292	G	A	FANCM	c.5067G>A	NM_020937.2	NP_065988.1:p.(Ala1689=)	NC_000014.8:g.45658292G>A	(Likely) benign	1 lab	06bfe78b57
15:41688781 NDUFAF1 T>G	15	41688781	41688781	T	G	NDUFAF1	c.477A>C	NM_016013.3	NP_057097.2:p.(Gln159His)	NC_000015.9:g.41688781T>G	(Likely) benign	1 lab	06c0439b23
X:46914007 JADE3 C>A	X	46914007	46914007	C	A	JADE3	c.1420C>A	NM_014735.5	NP_055550.1:p.(His474Asn)	NC_000023.10:g.46914007C>A	VUS	1 lab	06c0def3d5
16:15818811 MYH11 G>A	16	15818811	15818811	G	A	MYH11	c.3918C>T	NM_001040113.1	NP_001035202.1:p.(Ala1306=)	NC_000016.9:g.15818811G>A	(Likely) benign	1 lab	06c27566bd
16:1499009 CLCN7 C>T	16	1499009	1499009	C	T	CLCN7	c.1755G>A	NM_001287.5	NP_001278.1:p.(Leu585=)	NC_000016.9:g.1499009C>T	(Likely) benign	1 lab	06c7ae7a20
X:148798394 MAGEA11 C>T	X	148798394	148798394	C	T	MAGEA11	c.1161C>T	NM_001011544.1	NP_001011544.1:p.(Ser387=)	NC_000023.10:g.148798394C>T	(Likely) benign	1 lab	06c8013e78
3:38158465 DLEC1 G>A	3	38158465	38158465	G	A	DLEC1	c.4189-1G>A	NM_001321153.1	NP_001308082.1:p.?	NC_000003.11:g.38158465G>A	VUS	1 lab	06c9441022
10:104375016 SUFU G>C	10	104375016	104375016	G	C	SUFU	c.1023-9G>C	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104375016G>C	(Likely) benign	1 lab	06ccc93e4b
X:153697246 PLXNA3 G>A	X	153697246	153697246	G	A	PLXNA3	c.4368G>A	NM_017514.4	NP_059984.3:p.(Thr1456=)	NC_000023.10:g.153697246G>A	(Likely) benign	1 lab	06cebf7fa9
X:66931382 AR T>G	X	66931382	66931382	T	G	AR	c.2024T>G	NM_000044.4	NP_000035.2:p.(Leu675Arg)	NC_000023.10:g.66931382T>G	(Likely) pathogenic	1 lab	06d16ddc02
21:45751726 CFAP410 G>A	21	45751726	45751726	G	A	CFAP410	c.545C>T	NM_001271441.1	NP_001258370.1:p.(Thr182Ile)	NC_000021.8:g.45751726G>A	VUS	1 lab	06d21ba6ad
12:21958194 ABCC9 C>G	12	21958194	21958194	C	G	ABCC9	c.4564G>C	NM_005691.2	NP_005682.2:p.(Gly1522Arg)	NC_000012.11:g.21958194C>G	VUS	1 lab	06d39d3dce
3:98300242 CPOX T>C	3	98300242	98300242	T	C	CPOX	c.1277+9A>G	NM_000097.7	NP_000088.3:p.?	NC_000003.11:g.98300242T>C	VUS	1 lab	06d533765f
2:27601813 ZNF513 C>T	2	27601813	27601813	C	T	ZNF513	c.320G>A	NM_144631.5	NP_653232.3:p.(Gly107Asp)	NC_000002.11:g.27601813C>T	VUS	1 lab	06d73df63f
16:77334293 ADAMTS18 C>T	16	77334293	77334293	C	T	ADAMTS18	c.2025G>A	NM_001326358.1	NP_001313287.1:p.(Met675Ile)	NC_000016.9:g.77334293C>T	VUS	1 lab	06d8a409e9
11:66062990 TMEM151A G>A	11	66062990	66062990	G	A	TMEM151A	c.1273G>A	NM_153266.4	NP_694998.1:p.(Gly425Arg)	NC_000011.9:g.66062990G>A	VUS	1 lab	e072c0e449
1:109804465 CELSR2 G>A	1	109804465	109804465	G	A	CELSR2	c.4333G>A	NM_001408.3	NP_001399.1:p.(Gly1445Arg)	NC_000001.10:g.109804465G>A	VUS	1 lab	e073a27593
1:160261618 COPA G>A	1	160261618	160261618	G	A	COPA	c.3276C>T	NM_001098398.2	NP_001091868.1:p.(Arg1092=)	NC_000001.10:g.160261618G>A	(Likely) benign	1 lab	06dc1dacb8
19:50209275 CPT1C G>A	19	50209275	50209275	G	A	CPT1C	c.1074G>A	NM_001199752.2	NP_001186681.1:p.(Leu358=)	NC_000019.9:g.50209275G>A	(Likely) benign	1 lab	06dd16a3a1
2:37505038 MISSING T>C	2	37505038	37505038	T	C	MISSING				NC_000002.11:g.37505038T>C	VUS	1 lab	06de1d0b06
11:134114863 VPS26B C>T	11	134114863	134114863	C	T	VPS26B	c.753C>T	NM_052875.5	NP_443107.1:p.(Ala251=)	NC_000011.9:g.134114863C>T	(Likely) benign	1 lab	06e035db49
9:100447304 XPA CA>C	9	100447304	100447306	CA	C	XPA	c.573del	NM_000380.4	NP_000371.1:p.(Glu192LysfsTer9)	NC_000009.11:g.100447306del	(Likely) pathogenic	1 lab	06e0fdbb47
12:247865 IQSEC3 C>A	12	247865	247865	C	A	IQSEC3	c.1336C>A	NM_001170738.1	NP_001164209.1:p.(Pro446Thr)	NC_000012.11:g.247865C>A	(Likely) benign	1 lab	06e10031e5
1:209803151 LAMB3 A>G	1	209803151	209803151	A	G	LAMB3	c.1063T>C	NM_001017402.2	NP_001017402.1:p.(Cys355Arg)	NC_000001.10:g.209803151A>G	(Likely) pathogenic	1 lab	e07519fa7b
9:79972622 VPS13A T>C	9	79972622	79972622	T	C	VPS13A	c.7821T>C	NM_033305.2	NP_150648.2:p.(Pro2607=)	NC_000009.11:g.79972622T>C	(Likely) benign	1 lab	06e24c1593
X:70444239 GJB1 C>T	X	70444239	70444239	C	T	GJB1	c.682C>T	NM_000166.5	NP_000157.1:p.(Pro228Ser)	NC_000023.10:g.70444239C>T	(Likely) benign	1 lab	06e2757db2
13:103710695 SLC10A2 C>T	13	103710695	103710695	C	T	SLC10A2	c.415G>A	NM_000452.2	NP_000443.1:p.(Gly139Arg)	NC_000013.10:g.103710695C>T	VUS	1 lab	06e287f291
6:65300735 EYS A>G	6	65300735	65300735	A	G	EYS	c.5025T>C	NM_001292009.1	NP_001278938.1:p.(Ser1675=)	NC_000006.11:g.65300735A>G	(Likely) benign	1 lab	06e32293ce
4:55594007 KIT G>C	4	55594007	55594007	G	C	KIT	c.1793G>C	NM_000222.2	NP_000213.1:p.(Gly598Ala)	NC_000004.11:g.55594007G>C	VUS	1 lab	06e4c95a1f
12:109939173 UBE3B T>C	12	109939173	109939173	T	C	UBE3B	c.1119-3T>C	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109939173T>C	(Likely) benign	1 lab	e075c7e888
6:42123333 GUCA1A T>C	6	42123333	42123333	T	C	GUCA1A	c.-829+2T>C	NM_001319061.1	NP_001305990.1:p.?	NC_000006.11:g.42123333T>C	(Likely) benign	1 lab	06e6ca688e
2:216214314 ATIC T>C	2	216214314	216214314	T	C	ATIC	c.1715T>C	NM_004044.6	NP_004035.2:p.(Ile572Thr)	NC_000002.11:g.216214314T>C	VUS	1 lab	06e847cb19
20:3732575 HSPA12B T>C	20	3732575	3732575	T	C	HSPA12B	c.1820T>C	NM_001197327.1	NP_001184256.1:p.(Leu607Pro)	NC_000020.10:g.3732575T>C	VUS	1 lab	06e8a5ed16
9:13109969 MPDZ A>G	9	13109969	13109969	A	G	MPDZ	c.5837T>C	NM_003829.4	NP_003820.2:p.(Ile1946Thr)	NC_000009.11:g.13109969A>G	VUS	1 lab	06e8a6b1a3
6:57012986 ZNF451 T>G	6	57012986	57012986	T	G	ZNF451	c.2103T>G	NM_001031623.3	NP_001026794.1:p.(Thr701=)	NC_000006.11:g.57012986T>G	(Likely) benign	1 lab	06e9ad8a51
12:39730909 KIF21A G>A	12	39730909	39730909	G	A	KIF21A	c.2407C>T	NM_001173464.1	NP_001166935.1:p.(Arg803Cys)	NC_000012.11:g.39730909G>A	VUS	1 lab	06ea0fc885
13:50108358 RCBTB1 A>C	13	50108358	50108358	A	C	RCBTB1	c.917T>G	NM_001352506.1	NP_001339435.1:p.(Leu306Trp)	NC_000013.10:g.50108358A>C	VUS	1 lab	06ea3c3b90
1:119427781 TBX15 CT>C	1	119427781	119427783	CT	C	TBX15	c.1382del	NM_001330677.2	NP_001317606.1:p.(Lys461ArgfsTer68)	NC_000001.10:g.119427783del	VUS	1 lab	06eabbed72
3:167437915 PDCD10 C>CAA	3	167437915	167437917	C	CAA	PDCD10	c.30_31insTT	NM_007217.3	NP_009148.2:p.(Glu11LeufsTer24)	NC_000003.11:g.167437916_167437917insAA	(Likely) pathogenic	1 lab	06ec828fed
8:144992595 PLEC C>T	8	144992595	144992595	C	T	PLEC	c.11805G>A	NM_201380.3	NP_958782.1:p.(Arg3935=)	NC_000008.10:g.144992595C>T	(Likely) benign	1 lab	06edf5be9e
12:78598728 NAV3 G>A	12	78598728	78598728	G	A	NAV3	c.6848G>A	NM_001024383.2	NP_001019554.1:p.(Arg2283His)	NC_000012.11:g.78598728G>A	VUS	1 lab	06ee0fef50
X:123637519 TENM1 G>A	X	123637519	123637519	G	A	TENM1	c.3336C>T	NM_001163278.1	NP_001156750.1:p.(Asp1112=)	NC_000023.10:g.123637519G>A	(Likely) benign	1 lab	06eee0daa1
2:179500189 TTN G>C	2	179500189	179500189	G	C	TTN	c.41862C>G	NM_001267550.2	NP_001254479.2:p.(Tyr13954Ter)	NC_000002.11:g.179500189G>C	(Likely) pathogenic	1 lab	e07726d66d
11:117866338 IL10RA C>T	11	117866338	117866338	C	T	IL10RA	c.723C>T	NM_001558.3	NP_001549.2:p.(Ala241=)	NC_000011.9:g.117866338C>T	(Likely) benign	1 lab	06efca82e8
11:76891475 MYO7A G>A	11	76891475	76891475	G	A	MYO7A	c.2642G>A	NM_000260.3	NP_000251.3:p.(Arg881Gln)	NC_000011.9:g.76891475G>A	VUS	1 lab	06f011c9f7
1:22179288 HSPG2 G>A	1	22179288	22179288	G	A	HSPG2	c.6632C>T	NM_001291860.1	NP_001278789.1:p.(Pro2211Leu)	NC_000001.10:g.22179288G>A	(Likely) benign	1 lab	06f1ac58d0
9:133961026 LAMC3 G>A	9	133961026	133961026	G	A	LAMC3	c.4146G>A	NM_006059.3	NP_006050.3:p.(Arg1382=)	NC_000009.11:g.133961026G>A	(Likely) benign	1 lab	06f21128f4
11:108198486 ATM G>C	11	108198486	108198486	G	C	ATM	c.7089+1G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198486G>C	(Likely) pathogenic	1 lab	06f2a593d7
12:125438482 DHX37 A>G	12	125438482	125438482	A	G	DHX37	c.2639T>C	NM_032656.4	NP_116045.2:p.(Leu880Pro)	NC_000012.11:g.125438482A>G	VUS	1 lab	e079836b71
X:111697972 RTL4 A>AAAT	X	111697972	111697975	A	AAAT	RTL4	c.17_19dup	NM_001004308.2	NP_001004308.2:p.(Ser7Ter)	NC_000023.10:g.111697973_111697975dup	VUS	1 lab	06f4855c70
6:405137 IRF4 C>T	6	405137	405137	C	T	IRF4	c.1212+7C>T	NM_002460.3	NP_002451.2:p.?	NC_000006.11:g.405137C>T	(Likely) benign	1 lab	06f53188e7
X:38146198 RPGR T>C	X	38146198	38146198	T	C	RPGR	c.2054A>G	NM_001034853.1	NP_001030025.1:p.(Glu685Gly)	NC_000023.10:g.38146198T>C	(Likely) benign	1 lab	06f58be53d
10:123256121 FGFR2 C>T	10	123256121	123256121	C	T	FGFR2	c.1788G>A	NM_000141.4	NP_000132.3:p.(Glu596=)	NC_000010.10:g.123256121C>T	(Likely) benign	1 lab	06f591f0ae
2:179572343 TTN C>T	2	179572343	179572343	C	T	TTN	c.25219G>A	NM_133378.4	NP_596869.4:p.(Asp8407Asn)	NC_000002.11:g.179572343C>T	VUS	1 lab	e07a53d94c
1:216219781 USH2A A>G	1	216219781	216219781	A	G	USH2A	c.6317=	NM_206933.2	NP_996816.2:p.(Thr2106=)	NC_000001.10:g.216219781A>G	(Likely) benign	1 lab	06f6f6e3cc
8:87683280 CNGB3 C>T	8	87683280	87683280	C	T	CNGB3	c.385G>A	NM_019098.4	NP_061971.3:p.(Asp129Asn)	NC_000008.10:g.87683280C>T	VUS	1 lab	06fa885ff3
13:25467020 CPAP AAAC>A	13	25467020	25467025	AAAC	A	CPAP	c.2992-18_2992-16del	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25467023_25467025del	(Likely) benign	1 lab	06fc94b4c0
2:178095749 NFE2L2 C>T	2	178095749	178095749	C	T	NFE2L2	c.1534G>A	NM_001145412.3	NP_001138884.1:p.(Asp512Asn)	NC_000002.11:g.178095749C>T	VUS	1 lab	06fd1f537a
17:42085890 NAGS G>A	17	42085890	42085890	G	A	NAGS	c.1526G>A	NM_153006.2	NP_694551.1:p.(Arg509Gln)	NC_000017.10:g.42085890G>A	VUS	1 lab	06fe22bbcf
4:187113001 CYP4V2 C>T	4	187113001	187113001	C	T	CYP4V2	c.24C>T	NM_207352.3	NP_997235.3:p.(Leu8=)	NC_000004.11:g.187113001C>T	(Likely) benign	1 lab	06ff079604
1:156106178 LMNA A>AG	1	156106178	156106180	A	AG	LMNA	c.1333dup	NM_170707.2	NP_733821.1:p.(Val445GlyfsTer3)	NC_000001.10:g.156106180dup	(Likely) pathogenic	1 lab	06ff3cc07e
1:100347100 AGL T>C	1	100347100	100347100	T	C	AGL	c.2161T>C	NM_000028.2	NP_000019.2:p.(Tyr721His)	NC_000001.10:g.100347100T>C	VUS	1 lab	07002211da
10:68940205 CTNNA3 G>A	10	68940205	68940205	G	A	CTNNA3	c.917C>T	NM_013266.3	NP_037398.2:p.(Ala306Val)	NC_000010.10:g.68940205G>A	VUS	1 lab	0702a3c555
X:19560161 SH3KBP1 C>T	X	19560161	19560161	C	T	SH3KBP1	c.1774G>A	NM_031892.2	NP_114098.1:p.(Gly592Ser)	NC_000023.10:g.19560161C>T	(Likely) benign	1 lab	0709693b02
6:129714202 LAMA2 C>T	6	129714202	129714202	C	T	LAMA2	c.5247C>T	NM_000426.3	NP_000417.2:p.(Ala1749=)	NC_000006.11:g.129714202C>T	(Likely) benign	1 lab	070b994d11
X:39911534 BCOR C>T	X	39911534	39911534	C	T	BCOR	c.5096G>A	NM_001123385.1	NP_001116857.1:p.(Arg1699Gln)	NC_000023.10:g.39911534C>T	VUS	1 lab	070c613a49
17:34797609 MISSING G>A	17	34797609	34797609	G	A	MISSING				NC_000017.10:g.34797609G>A	(Likely) benign	1 lab	070e12379f
4:139163151 SLC7A11 G>T	4	139163151	139163151	G	T	SLC7A11	c.73C>A	NM_014331.4	NP_055146.1:p.(Pro25Thr)	NC_000004.11:g.139163151G>T	(Likely) benign	1 lab	070e15ae5f
9:27566800 C9orf72 G>A	9	27566800	27566800	G	A	C9orf72	c.319C>T	NM_001256054.1	NP_001242983.1:p.(Arg107Cys)	NC_000009.11:g.27566800G>A	VUS	1 lab	070f245669
5:70785234 BDP1 A>G	5	70785234	70785234	A	G	BDP1	c.1217A>G	NM_018429.2	NP_060899.2:p.(Lys406Arg)	NC_000005.9:g.70785234A>G	VUS	1 lab	070fce8f9c
11:96098262 CCDC82 T>C	11	96098262	96098262	T	C	CCDC82	c.1262A>G	NM_024725.4	NP_079001.2:p.(Asn421Ser)	NC_000011.9:g.96098262T>C	VUS	1 lab	07108b80d2
7:4828495 AP5Z1 G>A	7	4828495	4828495	G	A	AP5Z1	c.1620G>A	NM_014855.3	NP_055670.1:p.(Leu540=)	NC_000007.13:g.4828495G>A	(Likely) benign	1 lab	0710c9b1c9
9:131396214 DYNC2I2 CTG>C	9	131396214	131396218	CTG	C	DYNC2I2	c.1418_1419del	NM_052844.4	NP_443076.2:p.(Thr473SerfsTer9)	NC_000009.11:g.131396217_131396218del	(Likely) pathogenic	1 lab	0712441dc6
2:170055416 LRP2 G>T	2	170055416	170055416	G	T	LRP2	c.8458C>A	NM_004525.3	NP_004516.2:p.(Arg2820Ser)	NC_000002.11:g.170055416G>T	VUS	1 lab	0712abd981
6:56501439 DST C>T	6	56501439	56501439	C	T	DST	c.2877G>A	NM_001144769.2	NP_001138241.1:p.(Ala959=)	NC_000006.11:g.56501439C>T	(Likely) benign	1 lab	07135ced48
21:46888175 COL18A1 G>A	21	46888175	46888175	G	A	COL18A1	c.126G>A	NM_130445.2	NP_569712.2:p.(Val42=)	NC_000021.8:g.46888175G>A	(Likely) benign	1 lab	071489d305
11:72004528 CLPB G>A	11	72004528	72004528	G	A	CLPB	c.2007C>T	NM_030813.6	NP_110440.1:p.(Pro669=)	NC_000011.9:g.72004528G>A	(Likely) benign	1 lab	0715784183
4:980908 IDUA G>T	4	980908	980908	G	T	IDUA	c.36G>T	NM_000203.5	NP_000194.2:p.(Ala12=)	NC_000004.11:g.980908G>T	(Likely) benign	1 lab	11605dae50
2:228884420 SPHKAP C>T	2	228884420	228884420	C	T	SPHKAP	c.1150G>A	NM_001142644.2	NP_001136116.1:p.(Gly384Arg)	NC_000002.11:g.228884420C>T	VUS	1 lab	07173fa875
6:10804051 MAK T>C	6	10804051	10804051	T	C	MAK	c.565A>G	NM_001242957.2	NP_001229886.1:p.(Ile189Val)	NC_000006.11:g.10804051T>C	VUS	1 lab	071871d317
8:144992171 PLEC C>T	8	144992171	144992171	C	T	PLEC	c.12229G>A	NM_201380.3	NP_958782.1:p.(Val4077Met)	NC_000008.10:g.144992171C>T	VUS	1 lab	0718c5251e
2:1497663 TPO G>A	2	1497663	1497663	G	A	TPO	c.1858G>A	NM_000547.5	NP_000538.3:p.(Asp620Asn)	NC_000002.11:g.1497663G>A	(Likely) benign	1 lab	0718f78dc3
X:82763538 POU3F4 C>T	X	82763538	82763538	C	T	POU3F4	c.206C>T	NM_000307.4	NP_000298.3:p.(Ser69Phe)	NC_000023.10:g.82763538C>T	VUS	1 lab	071d2bfd63
5:110428085 WDR36 C>G	5	110428085	110428085	C	G	WDR36	c.99C>G	NM_139281.2	NP_644810.1:p.(Asp33Glu)	NC_000005.9:g.110428085C>G	(Likely) benign	1 lab	071fda1ea2
12:120173049 CIT G>A	12	120173049	120173049	G	A	CIT	c.3072C>T	NM_001206999.1	NP_001193928.1:p.(Asp1024=)	NC_000012.11:g.120173049G>A	(Likely) benign	1 lab	0721ab3042
11:46724537 ZNF408 G>A	11	46724537	46724537	G	A	ZNF408	c.396G>A	NM_024741.2	NP_079017.1:p.(Leu132=)	NC_000011.9:g.46724537G>A	(Likely) benign	1 lab	0722126b72
8:23563837 NKX2-6 C>T	8	23563837	23563837	C	T	NKX2-6	c.274+1G>A	NM_001136271.2	NP_001129743.2:p.?	NC_000008.10:g.23563837C>T	(Likely) pathogenic	1 lab	072773c358
X:151869478 MAGEA6 C>T	X	151869478	151869478	C	T	MAGEA6	c.168C>T	NM_175868.2	NP_787064.1:p.(Ala56=)	NC_000023.10:g.151869478C>T	(Likely) benign	1 lab	072782ee4d
2:179556742 TTN CCT>C	2	179556742	179556744	CCT	C	TTN	c.31761_31762del	NM_001267550.2	NP_001254479.2:p.(Lys10587AsnfsTer11)	NC_000002.11:g.179556743_179556744del	VUS	1 lab	07297084e3
X:139587149 SOX3 A>G	X	139587149	139587149	A	G	SOX3	c.77T>C	NM_005634.2	NP_005625.2:p.(Ile26Thr)	NC_000023.10:g.139587149A>G	(Likely) benign	1 lab	0729b0b98b
1:152281136 FLG C>A	1	152281136	152281136	C	A	FLG	c.6226G>T	NM_002016.1	NP_002007.1:p.(Ala2076Ser)	NC_000001.10:g.152281136C>A	(Likely) benign	1 lab	072ba03a18
15:77087670 SCAPER G>C	15	77087670	77087670	G	C	SCAPER	c.723C>G	NM_001353009.1	NP_001339938.1:p.(Pro241=)	NC_000015.9:g.77087670G>C	(Likely) benign	1 lab	072c0726a1
17:32964919 TMEM132E T>C	17	32964919	32964919	T	C	TMEM132E	c.2893T>C	NM_001304438.1	NP_001291367.1:p.(Cys965Arg)	NC_000017.10:g.32964919T>C	VUS	1 lab	072c4603e9
11:8122381 TUB GAC>G	11	8122381	8122385	GAC	G	TUB	c.1227_1228del	NM_177972.3	NP_813977.1:p.(Leu410AlafsTer7)	NC_000011.9:g.8122384_8122385del	(Likely) pathogenic	1 lab	072d9970c2
1:11169775 MTOR C>T	1	11169775	11169775	C	T	MTOR	c.7378G>A	NM_004958.3	NP_004949.1:p.(Gly2460Ser)	NC_000001.10:g.11169775C>T	(Likely) benign	1 lab	072dd302f2
2:73827900 ALMS1 A>G	2	73827900	73827900	A	G	ALMS1	c.11767A>G	NM_015120.4	NP_055935.4:p.(Asn3923Asp)	NC_000002.11:g.73827900A>G	(Likely) benign	1 lab	072e785d41
4:128865069 MFSD8 T>C	4	128865069	128865069	T	C	MFSD8	c.277A>G	NM_152778.2	NP_689991.1:p.(Ile93Val)	NC_000004.11:g.128865069T>C	(Likely) benign	1 lab	0730645b9f
17:43364186 MAP3K14 G>A	17	43364186	43364186	G	A	MAP3K14	c.764C>T	NM_003954.5	NP_003945.2:p.(Thr255Met)	NC_000017.10:g.43364186G>A	(Likely) benign	1 lab	07314bde2d
7:23145666 KLHL7 G>A	7	23145666	23145666	G	A	KLHL7	c.21G>A	NM_001031710.2	NP_001026880.2:p.(Glu7=)	NC_000007.13:g.23145666G>A	(Likely) benign	1 lab	07331718f3
X:70146413 SLC7A3 C>A	X	70146413	70146413	C	A	SLC7A3	c.1584G>T	NM_032803.5	NP_116192.4:p.(Trp528Cys)	NC_000023.10:g.70146413C>A	VUS	1 lab	0734495eb8
2:20138152 WDR35 T>C	2	20138152	20138152	T	C	WDR35	c.1970A>G	NM_001006657.1	NP_001006658.1:p.(His657Arg)	NC_000002.11:g.20138152T>C	VUS	1 lab	07347cb50a
1:216462694 USH2A C>T	1	216462694	216462694	C	T	USH2A	c.1899G>A	NM_206933.2	NP_996816.2:p.(Ser633=)	NC_000001.10:g.216462694C>T	(Likely) benign	1 lab	073546ac5d
X:21450940 CNKSR2 C>T	X	21450940	21450940	C	T	CNKSR2	c.431+8C>T	NM_014927.4	NP_055742.2:p.?	NC_000023.10:g.21450940C>T	(Likely) benign	1 lab	0735b13945
4:151749473 LRBA T>C	4	151749473	151749473	T	C	LRBA	c.5030A>G	NM_006726.4	NP_006717.2:p.(Asn1677Ser)	NC_000004.11:g.151749473T>C	VUS	1 lab	0736e9378c
18:72228177 CNDP1 C>T	18	72228177	72228177	C	T	CNDP1	c.390C>T	NM_032649.5	NP_116038.4:p.(Tyr130=)	NC_000018.9:g.72228177C>T	(Likely) benign	1 lab	0736f22ab2
21:38877823 DYRK1A G>GT	21	38877823	38877824	G	GT	DYRK1A	c.1451dup	NM_001347721.2	NP_001334650.1:p.(Ser485IlefsTer79)	NC_000021.8:g.38877824dup	(Likely) pathogenic	1 lab	073728daeb
17:29664394 NF1 A>T	17	29664394	29664394	A	T	NF1	c.6373A>T	NM_000267.3	NP_000258.1:p.(Lys2125Ter)	NC_000017.10:g.29664394A>T	(Likely) pathogenic	1 lab	073816b611
16:16208889 ABCC1 G>A	16	16208889	16208889	G	A	ABCC1	c.3346G>A	NM_004996.3	NP_004987.2:p.(Ala1116Thr)	NC_000016.9:g.16208889G>A	VUS	1 lab	0738fe9714
8:10464465 RP1L1 G>T	8	10464465	10464465	G	T	RP1L1	c.7143C>A	NM_178857.5	NP_849188.4:p.(Leu2381=)	NC_000008.10:g.10464465G>T	(Likely) benign	1 lab	073aad4367
12:49433982 KMT2D G>A	12	49433982	49433982	G	A	KMT2D	c.7571C>T	NM_003482.4	NP_003473.3:p.(Thr2524Met)	NC_000012.11:g.49433982G>A	(Likely) benign	1 lab	e07fd6fb47
16:23637697 PALB2 C>T	16	23637697	23637697	C	T	PALB2	c.2608G>A	NM_024675.4	NP_078951.2:p.(Val870Ile)	NC_000016.9:g.23637697C>T	(Likely) benign	1 lab	e080ae8bc8
1:70890023 CTH G>C	1	70890023	70890023	G	C	CTH	c.512G>C	NM_001902.5	NP_001893.2:p.(Gly171Ala)	NC_000001.10:g.70890023G>C	(Likely) benign	1 lab	073c4207d0
4:25160562 SEPSECS TAAAA>T	4	25160562	25160569	TAAAA	T	SEPSECS	c.269+9_269+12del	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25160566_25160569del	(Likely) benign	1 lab	073e9aed02
19:35250475 ZNF599 T>A	19	35250475	35250475	T	A	ZNF599	c.1231A>T	NM_001007248.3	NP_001007249.1:p.(Ile411Phe)	NC_000019.9:g.35250475T>A	VUS	1 lab	073f7f343f
14:92560117 ATXN3 T>A	14	92560117	92560117	T	A	ATXN3	c.293A>T	NM_004993.5	NP_004984.2:p.(Glu98Val)	NC_000014.8:g.92560117T>A	VUS	1 lab	0744a546c0
15:74740880 UBL7 T>C	15	74740880	74740880	T	C	UBL7	c.1064A>G	NM_001286741.1	NP_001273670.1:p.(Asn355Ser)	NC_000015.9:g.74740880T>C	(Likely) benign	1 lab	0744e98ad1
10:134713044 CFAP46 G>A	10	134713044	134713044	G	A	CFAP46	c.3051C>T	NM_001200049.3	NP_001186978.2:p.(Ser1017=)	NC_000010.10:g.134713044G>A	(Likely) benign	1 lab	074989154f
X:153586905 FLNA G>A	X	153586905	153586905	G	A	FLNA	c.4506C>T	NM_001110556.2	NP_001104026.1:p.(Asn1502=)	NC_000023.10:g.153586905G>A	(Likely) benign	1 lab	074ae2d5a9
15:45453999 DUOX1 G>A	15	45453999	45453999	G	A	DUOX1	c.3920G>A	NM_017434.4	NP_059130.2:p.(Arg1307Gln)	NC_000015.9:g.45453999G>A	(Likely) benign	1 lab	074af183dc
22:38130775 TRIOBP G>A	22	38130775	38130775	G	A	TRIOBP	c.4432G>A	NM_001039141.2	NP_001034230.1:p.(Gly1478Arg)	NC_000022.10:g.38130775G>A	VUS	1 lab	074f23b3c3
1:24122998 GALE C>T	1	24122998	24122998	C	T	GALE	c.873+1G>A	NM_000403.3	NP_000394.2:p.?	NC_000001.10:g.24122998C>T	(Likely) pathogenic	1 lab	07506813e1
6:31914359 CFB A>T	6	31914359	31914359	A	T	CFB	c.274A>T	NM_001710.5	NP_001701.2:p.(Thr92Ser)	NC_000006.11:g.31914359A>T	(Likely) benign	1 lab	07507b5362
1:17318329 ATP13A2 G>A	1	17318329	17318329	G	A	ATP13A2	c.2136C>T	NM_001141973.2	NP_001135445.1:p.(Ser712=)	NC_000001.10:g.17318329G>A	(Likely) benign	1 lab	0752aaa10d
22:41545858 EP300 C>T	22	41545858	41545858	C	T	EP300	c.2473C>T	NM_001429.3	NP_001420.2:p.(Pro825Ser)	NC_000022.10:g.41545858C>T	(Likely) benign	1 lab	07573b0cda
5:82835509 VCAN G>A	5	82835509	82835509	G	A	VCAN	c.6687G>A	NM_004385.4	NP_004376.2:p.(Lys2229=)	NC_000005.9:g.82835509G>A	(Likely) benign	1 lab	0757996f33
4:5693057 EVC2 C>T	4	5693057	5693057	C	T	EVC2	c.214G>A	NM_001166136.1	NP_001159608.1:p.(Gly72Arg)	NC_000004.11:g.5693057C>T	(Likely) benign	1 lab	0779b50a90
4:437304 ZNF721 C>T	4	437304	437304	C	T	ZNF721	c.952G>A	NM_133474.4	NP_597731.2:p.(Ala318Thr)	NC_000004.11:g.437304C>T	(Likely) benign	1 lab	0757b7d37d
22:51144590 MISSING G>A	22	51144590	51144590	G	A	MISSING				NC_000022.10:g.51144590G>A	(Likely) benign	1 lab	0758ea9c28
14:74538163 ALDH6A1 C>T	14	74538163	74538163	C	T	ALDH6A1	c.3G>A	NM_001278594.1	NP_001265523.1:p.(Met1?)	NC_000014.8:g.74538163C>T	VUS	1 lab	075a89629d
19:15770183 CYP4F3 GC>G	19	15770183	15770187	GC	G	CYP4F3	c.1555del	NM_000896.3	NP_000887.2:p.(Leu519Ter)	NC_000019.9:g.15770187del	(Likely) benign	1 lab	075c416865
2:219857880 CRYBA2 G>T	2	219857880	219857880	G	T	CRYBA2	c.19C>A	NM_057093.2	NP_476434.1:p.(Pro7Thr)	NC_000002.11:g.219857880G>T	(Likely) benign	1 lab	075d8938b3
19:17213169 MYO9B C>T	19	17213169	17213169	C	T	MYO9B	c.642C>T	NM_001130065.1	NP_001123537.1:p.(His214=)	NC_000019.9:g.17213169C>T	(Likely) benign	1 lab	075d8aa377
18:12329752 AFG3L2 A>G	18	12329752	12329752	A	G	AFG3L2	c.2206T>C	NM_006796.2	NP_006787.2:p.(Leu736=)	NC_000018.9:g.12329752A>G	(Likely) benign	1 lab	075ecad605
12:124191351 TCTN2 C>T	12	124191351	124191351	C	T	TCTN2	c.1848C>T	NM_024809.4	NP_079085.2:p.(Ser616=)	NC_000012.11:g.124191351C>T	(Likely) benign	1 lab	0760607fb8
7:750994 PRKAR1B A>C	7	750994	750994	A	C	PRKAR1B	c.149T>G	NM_001164761.1	NP_001158233.1:p.(Leu50Arg)	NC_000007.13:g.750994A>C	VUS	1 lab	076113c0d8
X:153033220 PLXNB3 C>T	X	153033220	153033220	C	T	PLXNB3	c.1007C>T	NM_001163257.1	NP_001156729.1:p.(Ala336Val)	NC_000023.10:g.153033220C>T	VUS	1 lab	07615e4b4d
13:29608244 MTUS2 T>C	13	29608244	29608244	T	C	MTUS2	c.2428T>C	NM_001033602.3	NP_001028774.3:p.(Tyr810His)	NC_000013.10:g.29608244T>C	VUS	1 lab	076319d1a1
16:2111970 TSC2 A>G	16	2111970	2111970	A	G	TSC2	c.1218A>G	NM_000548.3	NP_000539.2:p.(Arg406=)	NC_000016.9:g.2111970A>G	(Likely) pathogenic	1 lab	076333d2b4
5:34954704 DNAJC21 G>A	5	34954704	34954704	G	A	DNAJC21	c.1616G>A	NM_194283.3	NP_919259.3:p.(Arg539Gln)	NC_000005.9:g.34954704G>A	VUS	1 lab	076503a118
10:73563067 CDH23 G>C	10	73563067	73563067	G	C	CDH23	c.7762G>C	NM_022124.5	NP_071407.4:p.(Glu2588Gln)	NC_000010.10:g.73563067G>C	(Likely) benign	1 lab	0765e1aed5
X:115303911 AGTR2 G>A	X	115303911	115303911	G	A	AGTR2	c.378G>A	NM_000686.4	NP_000677.2:p.(Leu126=)	NC_000023.10:g.115303911G>A	(Likely) benign	1 lab	0766033ef7
5:14487703 TRIO C>T	5	14487703	14487703	C	T	TRIO	c.6966C>T	NM_007118.3	NP_009049.2:p.(Gly2322=)	NC_000005.9:g.14487703C>T	(Likely) benign	1 lab	076854f699
6:157502237 ARID1B G>T	6	157502237	157502237	G	T	ARID1B	c.3390G>T	NM_001346813.1	NP_001333742.1:p.(Leu1130=)	NC_000006.11:g.157502237G>T	(Likely) benign	1 lab	0768bb0a0b
1:45269669 PLK3 C>T	1	45269669	45269669	C	T	PLK3	c.1231C>T	NM_004073.4	NP_004064.2:p.(Arg411Cys)	NC_000001.10:g.45269669C>T	VUS	1 lab	0768ca0bd3
19:33953956 PEPD C>T	19	33953956	33953956	C	T	PEPD	c.625-9G>A	NM_000285.3	NP_000276.2:p.?	NC_000019.9:g.33953956C>T	(Likely) benign	1 lab	0769df6ed9
12:124270456 DNAH10 G>A	12	124270456	124270456	G	A	DNAH10	c.1211G>A	NM_207437.3	NP_997320.2:p.(Arg404Gln)	NC_000012.11:g.124270456G>A	VUS	1 lab	076b68b52c
16:50746063 NOD2 C>T	16	50746063	50746063	C	T	NOD2	c.2241C>T	NM_022162.1	NP_071445.1:p.(Tyr747=)	NC_000016.9:g.50746063C>T	(Likely) benign	1 lab	076d88d8f6
5:112164552 APC G>A	5	112164552	112164552	G	A	APC				NC_000005.9:g.112164552G>A	(Likely) pathogenic	1 lab	11aa0dd163
2:179453627 TTN T>C	2	179453627	179453627	T	C	TTN	c.62825A>G	NM_001267550.1	NP_001254479.1:p.(Asn20942Ser)	NC_000002.11:g.179453627T>C	VUS	1 lab	076dc2de2a
2:179396208 TTN T>C	2	179396208	179396208	T	C	TTN	c.105134A>G	NM_001267550.1	NP_001254479.1:p.(Asp35045Gly)	NC_000002.11:g.179396208T>C	VUS	1 lab	076f7a0d8c
19:5696672 LONP1 C>T	19	5696672	5696672	C	T	LONP1	c.1773+9G>A	NM_004793.3	NP_004784.2:p.?	NC_000019.9:g.5696672C>T	(Likely) benign	1 lab	077102f1f6
19:48734029 CARD8 A>G	19	48734029	48734029	A	G	CARD8	c.772+5T>C	NM_001351782.1	NP_001338711.1:p.?	NC_000019.9:g.48734029A>G	(Likely) benign	1 lab	0774072e55
8:10469830 RP1L1 G>A	8	10469830	10469830	G	A	RP1L1	c.1778C>T	NM_178857.5	NP_849188.4:p.(Thr593Met)	NC_000008.10:g.10469830G>A	(Likely) benign	1 lab	0775363a14
19:47570982 ZC3H4 C>T	19	47570982	47570982	C	T	ZC3H4	c.2543G>A	NM_015168.1	NP_055983.1:p.(Arg848His)	NC_000019.9:g.47570982C>T	VUS	1 lab	0775bb2c90
3:35763215 ARPP21 C>T	3	35763215	35763215	C	T	ARPP21	c.1114C>T	NM_016300.4	NP_057384.2:p.(Arg372Cys)	NC_000003.11:g.35763215C>T	VUS	1 lab	0775d42dbc
7:99795501 STAG3 T>TA	7	99795501	99795505	T	TA	STAG3	c.1164+6dup	NM_001282717.1	NP_001269646.1:p.?	NC_000007.13:g.99795505dup	(Likely) benign	1 lab	0777523475
1:41457449 CTPS1 T>G	1	41457449	41457449	T	G	CTPS1	c.652T>G	NM_001905.4	NP_001896.2:p.(Cys218Gly)	NC_000001.10:g.41457449T>G	VUS	1 lab	07779d2e1c
9:14737443 FREM1 T>A	9	14737443	14737443	T	A	FREM1	c.6491A>T	NM_144966.5	NP_659403.4:p.(Asp2164Val)	NC_000009.11:g.14737443T>A	VUS	1 lab	077a146fc6
7:121753271 AASS C>T	7	121753271	121753271	C	T	AASS	c.1179G>A	NM_005763.3	NP_005754.2:p.(Ser393=)	NC_000007.13:g.121753271C>T	(Likely) benign	1 lab	077a698adb
1:237865307 RYR2 A>G	1	237865307	237865307	A	G	RYR2	c.9397A>G	NM_001035.2	NP_001026.2:p.(Ile3133Val)	NC_000001.10:g.237865307A>G	VUS	1 lab	077a99d4c6
22:29121241 CHEK2 C>T	22	29121241	29121241	C	T	CHEK2	c.434G>A	NM_007194.4	NP_009125.1:p.(Arg145Gln)	NC_000022.10:g.29121241C>T	VUS	1 lab	077ba3763e
13:32914118 BRCA2 G>T	13	32914118	32914118	G	T	BRCA2	c.5626G>T	NM_000059.3	NP_000050.2:p.(Glu1876Ter)	NC_000013.10:g.32914118G>T	(Likely) pathogenic	1 lab	077c2bf7b3
17:78055543 CCDC40 G>A	17	78055543	78055543	G	A	CCDC40	c.1761G>A	NM_017950.3	NP_060420.2:p.(Arg587=)	NC_000017.10:g.78055543G>A	(Likely) benign	1 lab	077dcdc5c7
3:129234394 IFT122 G>A	3	129234394	129234394	G	A	IFT122	c.3370G>A	NM_052985.3	NP_443711.2:p.(Val1124Ile)	NC_000003.11:g.129234394G>A	(Likely) benign	1 lab	077ed21760
8:145739085 RECQL4 C>T	8	145739085	145739085	C	T	RECQL4	c.2070G>A	NM_004260.3	NP_004251.3:p.(Thr690=)	NC_000008.10:g.145739085C>T	(Likely) benign	1 lab	077f37a33a
11:71725339 NUMA1 A>G	11	71725339	71725339	A	G	NUMA1	c.3210T>C	NM_001286561.1	NP_001273490.1:p.(Arg1070=)	NC_000011.9:g.71725339A>G	(Likely) benign	1 lab	077fe65d88
12:22015871 ABCC9 A>G	12	22015871	22015871	A	G	ABCC9	c.2339+16T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22015871A>G	(Likely) benign	1 lab	e085dce3a8
8:10465211 RP1L1 C>T	8	10465211	10465211	C	T	RP1L1	c.6397G>A	NM_178857.5	NP_849188.4:p.(Glu2133Lys)	NC_000008.10:g.10465211C>T	VUS	1 lab	07819bb08e
13:52650273 NEK5 C>T	13	52650273	52650273	C	T	NEK5	c.1654G>A	NM_199289.2	NP_954983.1:p.(Glu552Lys)	NC_000013.10:g.52650273C>T	(Likely) benign	1 lab	0782657eb0
11:76894115 MYO7A C>T	11	76894115	76894115	C	T	MYO7A	c.3288C>T	NM_000260.3	NP_000251.3:p.(Ala1096=)	NC_000011.9:g.76894115C>T	(Likely) benign	1 lab	0782cc2f4c
1:243419472 SDCCAG8 G>A	1	243419472	243419472	G	A	SDCCAG8	c.-4G>A	NM_006642.4	NP_006633.1:p.?	NC_000001.10:g.243419472G>A	VUS	1 lab	0782e7b289
11:121458849 SORL1 T>C	11	121458849	121458849	T	C	SORL1	c.3935T>C	NM_003105.5	NP_003096.1:p.(Phe1312Ser)	NC_000011.9:g.121458849T>C	VUS	1 lab	0783865d3d
15:40500986 BUB1B C>T	15	40500986	40500986	C	T	BUB1B	c.2143+15C>T	NM_001211.6	NP_001202.5:p.?	NC_000015.9:g.40500986C>T	(Likely) benign	1 lab	e087bc8121
3:93715451 ARL13B G>A	3	93715451	93715451	G	A	ARL13B	c.8G>A	NM_001321328.1	NP_001308257.1:p.(Ser3Asn)	NC_000003.11:g.93715451G>A	VUS	1 lab	0784758618
10:97453475 TCTN3 G>A	10	97453475	97453475	G	A	TCTN3	c.182C>T	NM_015631.5	NP_056446.4:p.(Pro61Leu)	NC_000010.10:g.97453475G>A	VUS	1 lab	078553faa7
7:83098554 SEMA3E C>A	7	83098554	83098554	C	A	SEMA3E	c.336+5G>T	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83098554C>A	VUS	1 lab	0785a4d00a
5:37245911 CPLANE1 T>C	5	37245911	37245911	T	C	CPLANE1	c.118A>G	NM_023073.3	NP_075561.3:p.(Ile40Val)	NC_000005.9:g.37245911T>C	(Likely) benign	1 lab	078938a912
5:176694617 NSD1 T>G	5	176694617	176694617	T	G	NSD1	c.5201T>G	NM_022455.5	NP_071900.2:p.(Leu1734Arg)	NC_000005.9:g.176694617T>G	VUS	1 lab	e089827345
11:66461663 SPTBN2 G>A	11	66461663	66461663	G	A	SPTBN2	c.4450C>T	NM_006946.3	NP_008877.1:p.(Leu1484=)	NC_000011.9:g.66461663G>A	(Likely) benign	1 lab	078acc8e90
21:47811301 PCNT G>A	21	47811301	47811301	G	A	PCNT	c.4216+10G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47811301G>A	(Likely) benign	1 lab	078c980d32
9:90748562 SPATA31C2 GGACGCTGGGAGACAAGAT>G	9	90748562	90748597	GGACGCTGGGAGACAAGAT	G	SPATA31C2	c.194_211del	NM_001350978.3	NP_001337907.1:p.(His65_Arg70del)	NC_000009.11:g.90748580_90748597del	VUS	1 lab	078d462c25
3:186961375 MASP1 G>A	3	186961375	186961375	G	A	MASP1	c.1125C>T	NM_001879.5	NP_001870.3:p.(His375=)	NC_000003.11:g.186961375G>A	(Likely) benign	1 lab	078dcf48ad
22:20050978 TANGO2 C>T	22	20050978	20050978	C	T	TANGO2	c.846C>T	NM_001322141.1	NP_001309070.1:p.(Thr282=)	NC_000022.10:g.20050978C>T	(Likely) benign	1 lab	078df9378b
1:158639343 SPTA1 C>T	1	158639343	158639343	C	T	SPTA1	c.1688G>A	NM_003126.3	NP_003117.2:p.(Arg563Gln)	NC_000001.10:g.158639343C>T	VUS	1 lab	078f146139
X:21863394 MBTPS2 C>G	X	21863394	21863394	C	G	MBTPS2	c.330C>G	NM_015884.3	NP_056968.1:p.(Pro110=)	NC_000023.10:g.21863394C>G	(Likely) benign	1 lab	078fde2fb8
11:118968747 DPAGT1 TGG>T	11	118968747	118968750	TGG	T	DPAGT1	c.733_734del	NM_001382.4	NP_001373.2:p.(Pro245IlefsTer104)	NC_000011.9:g.118968749_118968750del	(Likely) pathogenic	1 lab	07904839b5
11:73020892 ARHGEF17 C>T	11	73020892	73020892	C	T	ARHGEF17	c.1209C>T	NM_014786.3	NP_055601.2:p.(Asp403=)	NC_000011.9:g.73020892C>T	(Likely) benign	1 lab	079120252d
19:18182998 IL12RB1 G>A	19	18182998	18182998	G	A	IL12RB1	c.1065C>T	NM_001290024.1	NP_001276953.1:p.(Asn355=)	NC_000019.9:g.18182998G>A	(Likely) benign	1 lab	0791247430
18:47398579 MYO5B T>C	18	47398579	47398579	T	C	MYO5B	c.3561A>G	NM_001080467.2	NP_001073936.1:p.(Ile1187Met)	NC_000018.9:g.47398579T>C	(Likely) benign	1 lab	0792b314b1
8:38103466 DDHD2 T>A	8	38103466	38103466	T	A	DDHD2	c.1055T>A	NM_015214.2	NP_056029.2:p.(Leu352Ter)	NC_000008.10:g.38103466T>A	(Likely) pathogenic	1 lab	0792efce97
2:209190226 PIKFYVE G>A	2	209190226	209190226	G	A	PIKFYVE	c.2691G>A	NM_015040.3	NP_055855.2:p.(Gly897=)	NC_000002.11:g.209190226G>A	(Likely) benign	1 lab	07949565e7
20:33329349 NCOA6 C>T	20	33329349	33329349	C	T	NCOA6	c.4711G>A	NM_014071.5	NP_054790.2:p.(Val1571Ile)	NC_000020.10:g.33329349C>T	(Likely) benign	1 lab	07950bed7e
20:32377359 ZNF341 C>T	20	32377359	32377359	C	T	ZNF341	c.2000C>T	NM_001282933.1	NP_001269862.1:p.(Pro667Leu)	NC_000020.10:g.32377359C>T	VUS	1 lab	0795d49b4d
1:150526427 ADAMTSL4 G>A	1	150526427	150526427	G	A	ADAMTSL4	c.960G>A	NM_001288608.1	NP_001275537.1:p.(Gly320=)	NC_000001.10:g.150526427G>A	(Likely) benign	1 lab	0796466d0f
7:50367304 IKZF1 C>T	7	50367304	50367304	C	T	IKZF1	c.111C>T	NM_006060.6	NP_006051.1:p.(Leu37=)	NC_000007.13:g.50367304C>T	(Likely) benign	1 lab	07965ec42b
16:2121543 TSC2 C>TT	16	2121543	2121543	C	TT	TSC2	c.1872delinsTT	NM_000548.3	NP_000539.2:p.(Ser625PhefsTer32)	NC_000016.9:g.2121543delinsTT	(Likely) pathogenic	1 lab	0796d788f8
7:101921292 CUX1 A>C	7	101921292	101921292	A	C	CUX1	c.1636A>C	NM_001913.4	NP_001904.2:p.(Lys546Gln)	NC_000007.13:g.101921292A>C	(Likely) benign	1 lab	079b8a5ed0
19:36336621 NPHS1 G>C	19	36336621	36336621	G	C	NPHS1	c.1707C>G	NM_004646.4	NP_004637.1:p.(Ser569Arg)	NC_000019.9:g.36336621G>C	(Likely) pathogenic	1 lab	e08a11141f
12:52965782 KRT74 T>C	12	52965782	52965782	T	C	KRT74	c.693A>G	NM_175053.4	NP_778223.2:p.(Glu231=)	NC_000012.11:g.52965782T>C	(Likely) benign	1 lab	e08dbd33cf
22:50966144 TYMP C>T	22	50966144	50966144	C	T	TYMP	c.519G>A	NM_001113756.2	NP_001107228.1:p.(Met173Ile)	NC_000022.10:g.50966144C>T	(Likely) benign	1 lab	079f0002e8
4:3219613 HTT A>C	4	3219613	3219613	A	C	HTT	c.7182A>C	NM_002111.8	NP_002102.4:p.(Leu2394=)	NC_000004.11:g.3219613A>C	(Likely) benign	1 lab	e08eb15422
15:62199598 VPS13C C>A	15	62199598	62199598	C	A	VPS13C	c.8979-9G>T	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62199598C>A	(Likely) benign	1 lab	07a117e4c2
16:1639688 IFT140 T>C	16	1639688	1639688	T	C	IFT140	c.728A>G	NM_014714.3	NP_055529.2:p.(Glu243Gly)	NC_000016.9:g.1639688T>C	VUS	1 lab	07a241fce8
X:48825907 KCND1 G>A	X	48825907	48825907	G	A	KCND1	c.772C>T	NM_004979.5	NP_004970.3:p.(Arg258Cys)	NC_000023.10:g.48825907G>A	(Likely) benign	1 lab	07a278e54b
17:29654858 NF1 G>A	17	29654858	29654858	G	A	NF1	c.5546+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654858G>A	(Likely) pathogenic	1 lab	07a41c6ea5
11:73879652 C2CD3 C>T	11	73879652	73879652	C	T	C2CD3	c.62G>A	NM_001286577.1	NP_001273506.1:p.(Ser21Asn)	NC_000011.9:g.73879652C>T	VUS	1 lab	07a4e4188d
3:46942923 PTH1R G>A	3	46942923	46942923	G	A	PTH1R	c.1069G>A	NM_000316.2	NP_000307.1:p.(Gly357Arg)	NC_000003.11:g.46942923G>A	VUS	1 lab	07a68367d4
14:76425594 TGFB3 A>G	14	76425594	76425594	A	G	TGFB3	c.1175T>C	NM_001329939.1	NP_001316868.1:p.(Val392Ala)	NC_000014.8:g.76425594A>G	VUS	1 lab	07a71be674
5:70806283 BDP1 G>A	5	70806283	70806283	G	A	BDP1	c.3364G>A	NM_018429.2	NP_060899.2:p.(Gly1122Arg)	NC_000005.9:g.70806283G>A	(Likely) benign	1 lab	07a71ff4ea
12:76740432 BBS10 G>T	12	76740432	76740432	G	T	BBS10	c.1333C>A	NM_024685.4	NP_078961.3:p.(Leu445Ile)	NC_000012.11:g.76740432G>T	(Likely) benign	1 lab	07a7ab432c
6:88226546 RARS2 C>T	6	88226546	88226546	C	T	RARS2	c.1039G>A	NM_001350508.1	NP_001337437.1:p.(Val347Ile)	NC_000006.11:g.88226546C>T	VUS	1 lab	07a8a7af95
13:48955512 RB1 CAA>C	13	48955512	48955514	CAA	C	RB1	c.1629_1630del	NM_000321.3	NP_000312.2:p.(Glu545AsnfsTer9)	NC_000013.10:g.48955513_48955514del	(Likely) pathogenic	1 lab	e093aed3d2
17:3386820 ASPA G>A	17	3386820	3386820	G	A	ASPA				NC_000017.10:g.3386820G>A	VUS	1 lab	07a9cf3f2b
3:135721472 PPP2R3A T>C	3	135721472	135721472	T	C	PPP2R3A	c.1132T>C	NM_002718.4	NP_002709.2:p.(Tyr378His)	NC_000003.11:g.135721472T>C	(Likely) benign	1 lab	07ab249b98
2:96968890 SNRNP200 C>T	2	96968890	96968890	C	T	SNRNP200	c.381+7G>A	NM_014014.4	NP_054733.2:p.?	NC_000002.11:g.96968890C>T	(Likely) benign	1 lab	07abf8a708
16:10989594 CIITA G>C	16	10989594	10989594	G	C	CIITA	c.268G>C	NM_001286402.1	NP_001273331.1:p.(Glu90Gln)	NC_000016.9:g.10989594G>C	VUS	1 lab	07ac0797e8
5:5461696 ICE1 G>C	5	5461696	5461696	G	C	ICE1	c.2249G>C	NM_015325.3	NP_056140.1:p.(Gly750Ala)	NC_000005.9:g.5461696G>C	VUS	1 lab	07accc4206
X:48462774 WDR13 C>T	X	48462774	48462774	C	T	WDR13	c.993C>T	NM_001166426.3	NP_001159898.1:p.(Cys331=)	NC_000023.10:g.48462774C>T	(Likely) benign	1 lab	e095db08a4
21:47787033 PCNT C>T	21	47787033	47787033	C	T	PCNT	c.3144C>T	NM_006031.5	NP_006022.3:p.(His1048=)	NC_000021.8:g.47787033C>T	(Likely) benign	1 lab	07af0f2e9e
16:51175913 SALL1 C>T	16	51175913	51175913	C	T	SALL1	c.220G>A	NM_002968.2	NP_002959.2:p.(Val74Ile)	NC_000016.9:g.51175913C>T	(Likely) benign	1 lab	07b051db63
7:103030885 SLC26A5 T>C	7	103030885	103030885	T	C	SLC26A5	c.1302A>G	NM_198999.2	NP_945350.1:p.(Ser434=)	NC_000007.13:g.103030885T>C	(Likely) benign	1 lab	07b0f139eb
4:3109095 HTT C>T	4	3109095	3109095	C	T	HTT	c.698C>T	NM_002111.8	NP_002102.4:p.(Ala233Val)	NC_000004.11:g.3109095C>T	(Likely) benign	1 lab	07b31ec418
2:179470326 TTN A>ATGAT	2	179470326	179470330	A	ATGAT	TTN	c.53692_53695dup	NM_001267550.2	NP_001254479.2:p.(Ile17899AsnfsTer3)	NC_000002.11:g.179470327_179470330dup	(Likely) pathogenic	1 lab	e0981a8f3a
17:4446002 MYBBP1A C>T	17	4446002	4446002	C	T	MYBBP1A	c.2927G>A	NM_014520.3	NP_055335.2:p.(Arg976Gln)	NC_000017.10:g.4446002C>T	(Likely) benign	1 lab	07b50400ac
18:6982508 LAMA1 T>A	18	6982508	6982508	T	A	LAMA1	c.5878A>T	NM_005559.3	NP_005550.2:p.(Arg1960Trp)	NC_000018.9:g.6982508T>A	VUS	1 lab	07b5405133
9:70918571 FOXD4L3 C>G	9	70918571	70918571	C	G	FOXD4L3	c.704C>G	NM_199135.4	NP_954586.4:p.(Pro235Arg)	NC_000009.11:g.70918571C>G	(Likely) benign	1 lab	07b5a9f141
16:67322096 PLEKHG4 G>A	16	67322096	67322096	G	A	PLEKHG4	c.3247G>A	NM_001129727.2	NP_001123199.1:p.(Val1083Ile)	NC_000016.9:g.67322096G>A	VUS	1 lab	07b5aed5e1
11:66590142 TOP6BL T>A	11	66590142	66590142	T	A	TOP6BL	c.1566T>A	NM_024650.3	NP_078926.3:p.(Leu522=)	NC_000011.9:g.66590142T>A	(Likely) benign	1 lab	07b5c556fe
19:51220073 SHANK1 C>G	19	51220073	51220073	C	G	SHANK1	c.104G>C	NM_016148.5	NP_057232.2:p.(Arg35Pro)	NC_000019.9:g.51220073C>G	VUS	1 lab	e09ac23cdc
7:116340021 MET C>T	7	116340021	116340021	C	T	MET	c.883C>T	NM_001127500.1	NP_001120972.1:p.(Pro295Ser)	NC_000007.13:g.116340021C>T	VUS	1 lab	07bb5c5410
1:234743589 IRF2BP2 G>A	1	234743589	234743589	G	A	IRF2BP2	c.1058C>T	NM_182972.2	NP_892017.2:p.(Thr353Ile)	NC_000001.10:g.234743589G>A	VUS	1 lab	07bbbfa469
18:44087571 LOXHD1 G>A	18	44087571	44087571	G	A	LOXHD1	c.5436C>T	NM_144612.6	NP_653213.6:p.(Ala1812=)	NC_000018.9:g.44087571G>A	(Likely) benign	1 lab	07bc2281c9
20:44750888 CD40 T>C	20	44750888	44750888	T	C	CD40	c.147T>C	NM_001302753.1	NP_001289682.1:p.(Ser49=)	NC_000020.10:g.44750888T>C	VUS	1 lab	07bcaec1aa
21:43809064 TMPRSS3 T>C	21	43809064	43809064	T	C	TMPRSS3	c.296A>G	NM_024022.2	NP_076927.1:p.(Lys99Arg)	NC_000021.8:g.43809064T>C	VUS	1 lab	07bd0be5e1
3:58108912 FLNB G>A	3	58108912	58108912	G	A	FLNB	c.3219G>A	NM_001164317.1	NP_001157789.1:p.(Leu1073=)	NC_000003.11:g.58108912G>A	(Likely) benign	1 lab	07be3a610a
22:32495289 SLC5A1 T>C	22	32495289	32495289	T	C	SLC5A1	c.1400T>C	NM_000343.3	NP_000334.1:p.(Ile467Thr)	NC_000022.10:g.32495289T>C	VUS	1 lab	07c1d3398d
13:103527798 ERCC5 G>A	13	103527798	103527798	G	A	ERCC5	c.3106G>A	NM_000123.3	NP_000114.2:p.(Ala1036Thr)	NC_000013.10:g.103527798G>A	(Likely) benign	1 lab	07c201d062
15:22848268 TUBGCP5 A>G	15	22848268	22848268	A	G	TUBGCP5	c.858A>G	NM_052903.6	NP_443135.3:p.(Ile286Met)	NC_000015.9:g.22848268A>G	VUS	1 lab	07c22ca6c2
16:77468556 ADAMTS18 C>G	16	77468556	77468556	C	G	ADAMTS18	c.37G>C	NM_199355.3	NP_955387.1:p.(Ala13Pro)	NC_000016.9:g.77468556C>G	VUS	1 lab	07c24dbf88
12:56089357 ITGA7 C>T	12	56089357	56089357	C	T	ITGA7	c.1964G>A	NM_001144996.2	NP_001138468.1:p.(Arg655His)	NC_000012.11:g.56089357C>T	(Likely) benign	1 lab	e09d5e2f95
3:128205798 GATA2 T>G	3	128205798	128205798	T	G	GATA2	c.77A>C	NM_001145661.1	NP_001139133.1:p.(His26Pro)	NC_000003.11:g.128205798T>G	VUS	1 lab	07c4d9d71a
X:132351869 TFDP3 T>C	X	132351869	132351869	T	C	TFDP3	c.419A>G	NM_016521.2	NP_057605.3:p.(Lys140Arg)	NC_000023.10:g.132351869T>C	VUS	1 lab	07c5275e09
8:48878772 MCM4 C>T	8	48878772	48878772	C	T	MCM4	c.858C>T	NM_005914.4	NP_005905.2:p.(Ser286=)	NC_000008.10:g.48878772C>T	(Likely) benign	1 lab	07c7e03b10
12:100796486 SLC17A8 C>A	12	100796486	100796486	C	A	SLC17A8	c.1016C>A	NM_139319.2	NP_647480.1:p.(Ala339Asp)	NC_000012.11:g.100796486C>A	VUS	1 lab	07c7f366a1
17:76570996 DNAH17 G>T	17	76570996	76570996	G	T	DNAH17	c.144C>A	NM_173628.3	NP_775899.3:p.(Asp48Glu)	NC_000017.10:g.76570996G>T	(Likely) benign	1 lab	07c8199ae7
16:72827589 ZFHX3 G>A	16	72827589	72827589	G	A	ZFHX3	c.8992C>T	NM_006885.3	NP_008816.3:p.(Arg2998Trp)	NC_000016.9:g.72827589G>A	VUS	1 lab	07c989ad57
11:47364252 MYBPC3 A>G	11	47364252	47364252	A	G	MYBPC3	c.1501T>C	NM_000256.3	NP_000247.2:p.(Tyr501His)	NC_000011.9:g.47364252A>G	VUS	1 lab	07c9be2064
1:13718851 PRAMEF17 G>A	1	13718851	13718851	G	A	PRAMEF17	c.1314G>A	NM_001099851.3	NP_001093321.1:p.(Met438Ile)	NC_000001.10:g.13718851G>A	(Likely) benign	1 lab	07cc33416b
5:137517361 KIF20A C>T	5	137517361	137517361	C	T	KIF20A	c.319C>T	NM_005733.3	NP_005724.1:p.(Leu107=)	NC_000005.9:g.137517361C>T	(Likely) benign	1 lab	07cd76d435
4:16010674 PROM1 A>G	4	16010674	16010674	A	G	PROM1	c.1172T>C	NM_001145847.1	NP_001139319.1:p.(Leu391Pro)	NC_000004.11:g.16010674A>G	VUS	1 lab	07cdd857ed
5:142259015 ARHGAP26 G>T	5	142259015	142259015	G	T	ARHGAP26	c.384+5G>T	NM_015071.6	NP_055886.1:p.?	NC_000005.9:g.142259015G>T	VUS	1 lab	07ce0ab7ee
16:89346930 ANKRD11 G>A	16	89346930	89346930	G	A	ANKRD11	c.6020C>T	NM_013275.6	NP_037407.4:p.(Pro2007Leu)	NC_000016.9:g.89346930G>A	(Likely) benign	1 lab	e09db0e3dd
6:144835837 UTRN G>A	6	144835837	144835837	G	A	UTRN	c.5125G>A	NM_007124.2	NP_009055.2:p.(Asp1709Asn)	NC_000006.11:g.144835837G>A	VUS	1 lab	07cf447861
2:170343614 BBS5 C>T	2	170343614	170343614	C	T	BBS5	c.178C>T	NM_152384.2	NP_689597.1:p.(His60Tyr)	NC_000002.11:g.170343614C>T	VUS	1 lab	07cfaf5d6b
X:84525943 ZNF711 A>ACTTATTTTAAGTCT	X	84525943	84525955	A	ACTTATTTTAAGTCT	ZNF711	c.1406_1407insTCTCTTATTTTAAG	NM_021998.4	NP_068838.3:p.(Arg469SerfsTer5)	NC_000023.10:g.84525954_84525955insTCTCTTATTTTAAG	(Likely) pathogenic	1 lab	07d1bdecae
12:53203235 KRT4 C>T	12	53203235	53203235	C	T	KRT4	c.766G>A	NM_002272.3	NP_002263.3:p.(Val256Met)	NC_000012.11:g.53203235C>T	VUS	1 lab	07d25e2340
4:36292142 DTHD1 C>T	4	36292142	36292142	C	T	DTHD1	c.660C>T	NM_001170700.2	NP_001164171.1:p.(Asn220=)	NC_000004.11:g.36292142C>T	(Likely) benign	1 lab	07d285b680
9:135779118 TSC1 G>A	9	135779118	135779118	G	A	TSC1	c.2128C>T	NM_000368.4	NP_000359.1:p.(Gln710Ter)	NC_000009.11:g.135779118G>A	(Likely) pathogenic	1 lab	07d40457a6
14:88883061 SPATA7 A>G	14	88883061	88883061	A	G	SPATA7	c.245A>G	NM_018418.4	NP_060888.2:p.(Asp82Gly)	NC_000014.8:g.88883061A>G	VUS	1 lab	07d43d1c4b
4:123109082 BLTP1 G>A	4	123109082	123109082	G	A	BLTP1	c.660G>A	NM_015312.3	NP_056127.2:p.(Pro220=)	NC_000004.11:g.123109082G>A	(Likely) benign	1 lab	07d447390c
X:65479958 HEPH G>A	X	65479958	65479958	G	A	HEPH	c.3215G>A	NM_138737.4	NP_620074.3:p.(Arg1072Gln)	NC_000023.10:g.65479958G>A	VUS	1 lab	07d49db774
X:100169583 XKRX A>G	X	100169583	100169583	A	G	XKRX	c.1094T>C	NM_212559.2	NP_997724.2:p.(Leu365Ser)	NC_000023.10:g.100169583A>G	(Likely) benign	1 lab	07d50806a5
X:108924521 ACSL4 C>T	X	108924521	108924521	C	T	ACSL4	c.613G>A	NM_022977.2	NP_075266.1:p.(Val205Ile)	NC_000023.10:g.108924521C>T	(Likely) benign	1 lab	07d7e430c6
9:140055565 GRIN1 A>G	9	140055565	140055565	A	G	GRIN1	c.1255A>G	NM_007327.3	NP_015566.1:p.(Thr419Ala)	NC_000009.11:g.140055565A>G	VUS	1 lab	07d868faef
10:124810704 ACADSB TAAAAAAA>T	10	124810704	124810728	TAAAAAAA	T	ACADSB	c.1128+20_1128+26del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124810722_124810728del	(Likely) benign	1 lab	07d9f1a08d
1:57537317 DAB1 G>A	1	57537317	57537317	G	A	DAB1	c.439-3C>T	NM_021080.4	NP_066566.3:p.?	NC_000001.10:g.57537317G>A	(Likely) benign	1 lab	07dab2ef77
20:25288687 ABHD12 TAAAC>T	20	25288687	25288696	TAAAC	T	ABHD12	c.788-10_788-7del	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25288693_25288696del	(Likely) benign	1 lab	07dc03ca11
9:13121734 MPDZ A>C	9	13121734	13121734	A	C	MPDZ	c.5231+4T>G	NM_001330637.1	NP_001317566.1:p.?	NC_000009.11:g.13121734A>C	(Likely) benign	1 lab	07deadf7d7
11:47365098 MYBPC3 G>T	11	47365098	47365098	G	T	MYBPC3	c.1168C>A	NM_000256.3	NP_000247.2:p.(His390Asn)	NC_000011.9:g.47365098G>T	VUS	1 lab	e09dc96d25
3:14199814 XPC T>G	3	14199814	14199814	T	G	XPC	c.1569A>C	NM_004628.4	NP_004619.3:p.(Arg523Ser)	NC_000003.11:g.14199814T>G	(Likely) benign	1 lab	07e2eb049f
7:97498218 ASNS A>G	7	97498218	97498218	A	G	ASNS	c.249+2T>C	NM_001352496.1	NP_001339425.1:p.?	NC_000007.13:g.97498218A>G	(Likely) pathogenic	1 lab	07e32b899c
1:215792397 KCTD3 A>C	1	215792397	215792397	A	C	KCTD3	c.1426A>C	NM_001319295.1	NP_001306224.1:p.(Lys476Gln)	NC_000001.10:g.215792397A>C	VUS	1 lab	07e3badd5f
14:102493789 DYNC1H1 A>G	14	102493789	102493789	A	G	DYNC1H1	c.8956A>G	NM_001376.4	NP_001367.2:p.(Lys2986Glu)	NC_000014.8:g.102493789A>G	VUS	1 lab	07e45f349c
6:46660277 TDRD6 A>T	6	46660277	46660277	A	T	TDRD6	c.4412A>T	NM_001010870.2	NP_001010870.1:p.(Asp1471Val)	NC_000006.11:g.46660277A>T	VUS	1 lab	07e473dc84
1:151787873 RORC C>T	1	151787873	151787873	C	T	RORC	c.327G>A	NM_005060.4	NP_005051.2:p.(Lys109=)	NC_000001.10:g.151787873C>T	(Likely) benign	1 lab	07e49f43ee
6:157511278 ARID1B A>G	6	157511278	157511278	A	G	ARID1B	c.3796A>G	NM_020732.3	NP_065783.3:p.(Met1266Val)	NC_000006.11:g.157511278A>G	(Likely) benign	1 lab	07e6877dd7
2:9630608 ADAM17 G>GT	2	9630608	9630609	G	GT	ADAM17	c.2172_2173insA	NM_003183.6	NP_003174.3:p.(Arg725ThrfsTer54)	NC_000002.11:g.9630608_9630609insT	(Likely) pathogenic	1 lab	07e778187a
19:41928621 BCKDHA G>A	19	41928621	41928621	G	A	BCKDHA	c.941G>A	NM_000709.3	NP_000700.1:p.(Arg314Gln)	NC_000019.9:g.41928621G>A	VUS	1 lab	07e8bbba2c
7:141730246 MGAM T>A	7	141730246	141730246	T	A	MGAM	c.1306T>A	NM_004668.2	NP_004659.2:p.(Phe436Ile)	NC_000007.13:g.141730246T>A	VUS	1 lab	07e9a67ea3
11:1258377 MUC5B G>A	11	1258377	1258377	G	A	MUC5B	c.3280G>A	NM_002458.3	NP_002449.2:p.(Ala1094Thr)	NC_000011.9:g.1258377G>A	(Likely) benign	1 lab	e09e2a6843
X:24741359 POLA1 C>T	X	24741359	24741359	C	T	POLA1	c.1175C>T	NM_001330360.1	NP_001317289.1:p.(Thr392Met)	NC_000023.10:g.24741359C>T	VUS	1 lab	07eb17281e
16:30038021 TLCD3B G>A	16	30038021	30038021	G	A	TLCD3B	c.353C>T	NM_031478.5	NP_113666.2:p.(Thr118Met)	NC_000016.9:g.30038021G>A	(Likely) benign	1 lab	07eb18dae3
16:71008480 HYDIN A>G	16	71008480	71008480	A	G	HYDIN	c.4866T>C	NM_001270974.2	NP_001257903.1:p.(Phe1622=)	NC_000016.9:g.71008480A>G	(Likely) benign	1 lab	07ec4539cb
19:41025740 SPTBN4 C>T	19	41025740	41025740	C	T	SPTBN4	c.3336C>T	NM_020971.2	NP_066022.2:p.(Gly1112=)	NC_000019.9:g.41025740C>T	VUS	1 lab	07ec940462
15:89862296 POLG G>A	15	89862296	89862296	G	A	POLG	c.3139C>T	NM_002693.2	NP_002684.1:p.(Arg1047Trp)	NC_000015.9:g.89862296G>A	VUS	1 lab	07ec9554d0
6:76624005 MYO6 A>T	6	76624005	76624005	A	T	MYO6	c.3658+7A>T	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76624005A>T	(Likely) benign	1 lab	07ed7f87e8
11:637355 DRD4 G>A	11	637355	637355	G	A	DRD4	c.51G>A	NM_000797.3	NP_000788.2:p.(Gly17=)	NC_000011.9:g.637355G>A	(Likely) benign	1 lab	07edac4806
X:119249545 RHOXF1 C>A	X	119249545	119249545	C	A	RHOXF1	c.228G>T	NM_139282.2	NP_644811.1:p.(Glu76Asp)	NC_000023.10:g.119249545C>A	(Likely) benign	1 lab	07ee1f25df
X:123034549 XIAP C>T	X	123034549	123034549	C	T	XIAP	c.1300+6C>T	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123034549C>T	(Likely) benign	1 lab	07eefb2a87
10:21148708 NEBL AT>A	10	21148708	21148709	AT	A	NEBL	c.731del	NM_006393.3	NP_006384.1:p.(His244LeufsTer24)	NC_000010.10:g.21148709del	VUS	1 lab	07efc652f2
3:47038038 NBEAL2 AC>A	3	47038038	47038039	AC	A	NBEAL2	c.2430del	NM_015175.3	NP_055990.1:p.(His810GlnfsTer9)	NC_000003.11:g.47038039del	(Likely) pathogenic	1 lab	07f353f29d
X:153707084 LAGE3 T>C	X	153707084	153707084	T	C	LAGE3	c.171A>G	NM_006014.4	NP_006005.2:p.(Arg57=)	NC_000023.10:g.153707084T>C	(Likely) benign	1 lab	07f35f7a51
2:160261529 BAZ2B T>C	2	160261529	160261529	T	C	BAZ2B	c.2662+4A>G	NM_001289975.1	NP_001276904.1:p.?	NC_000002.11:g.160261529T>C	(Likely) benign	1 lab	e09e7f8077
2:44126389 LRPPRC C>T	2	44126389	44126389	C	T	LRPPRC	c.3794G>A	NM_133259.3	NP_573566.2:p.(Gly1265Asp)	NC_000002.11:g.44126389C>T	VUS	1 lab	07f42e3aa8
5:131915666 RAD50 G>GCT	5	131915666	131915667	G	GCT	RAD50	c.664_665insCT	NM_005732.3	NP_005723.2:p.(Glu222AlafsTer14)	NC_000005.9:g.131915666_131915667insCT	VUS	1 lab	07f52c9bc2
12:133233983 POLE C>T	12	133233983	133233983	C	T	POLE	c.3411G>A	NM_006231.3	NP_006222.2:p.(Leu1137=)	NC_000012.11:g.133233983C>T	(Likely) benign	1 lab	07f5324474
6:38819360 DNAH8 G>C	6	38819360	38819360	G	C	DNAH8	c.5376G>C	NM_001206927.1	NP_001193856.1:p.(Lys1792Asn)	NC_000006.11:g.38819360G>C	(Likely) benign	1 lab	07f56b4a2a
X:153132133 L1CAM T>C	X	153132133	153132133	T	C	L1CAM	c.2402A>G	NM_001278116.1	NP_001265045.1:p.(Gln801Arg)	NC_000023.10:g.153132133T>C	VUS	1 lab	07f7283692
7:70231233 AUTS2 C>G	7	70231233	70231233	C	G	AUTS2	c.1602C>G	NM_001127231.2	NP_001120703.1:p.(Thr534=)	NC_000007.13:g.70231233C>G	(Likely) benign	1 lab	07f7b2fca0
9:135779894 TSC1 C>T	9	135779894	135779894	C	T	TSC1	c.1998-53G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135779894C>T	(Likely) benign	1 lab	07fb17dd50
3:53218922 PRKCD G>A	3	53218922	53218922	G	A	PRKCD	c.820G>A	NM_006254.4	NP_006245.2:p.(Glu274Lys)	NC_000003.11:g.53218922G>A	(Likely) benign	1 lab	07fb1ceaa0
3:42772039 CCDC13 C>G	3	42772039	42772039	C	G	CCDC13	c.1638G>C	NM_144719.3	NP_653320.3:p.(Val546=)	NC_000003.11:g.42772039C>G	(Likely) benign	1 lab	07fff8d19f
3:48607737 COL7A1 G>A	3	48607737	48607737	G	A	COL7A1	c.7411C>T	NM_000094.3	NP_000085.1:p.(Arg2471Ter)	NC_000003.11:g.48607737G>A	(Likely) pathogenic	1 lab	e0a3e27a47
2:121554963 GLI2 G>A	2	121554963	121554963	G	A	GLI2	c.67G>A	NM_005270.4	NP_005261.2:p.(Ala23Thr)	NC_000002.11:g.121554963G>A	(Likely) benign	1 lab	0801e2f8df
14:68217817 ZFYVE26 T>C	14	68217817	68217817	T	C	ZFYVE26	c.7372-4A>G	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68217817T>C	(Likely) benign	1 lab	0802266596
11:47354847 MYBPC3 G>A	11	47354847	47354847	G	A	MYBPC3	c.3228C>T	NM_000256.3	NP_000247.2:p.(Asp1076=)	NC_000011.9:g.47354847G>A	(Likely) benign	1 lab	0803db4f85
7:42005587 GLI3 GC>AA	7	42005587	42005588	GC	AA	GLI3	c.3083_3084delinsTT	NM_000168.5	NP_000159.3:p.(Ser1028Ile)	NC_000007.13:g.42005587_42005588delinsAA	(Likely) benign	1 lab	0804228b2f
17:7800581 CHD3 T>C	17	7800581	7800581	T	C	CHD3	c.2065T>C	NM_001005271.2	NP_001005271.2:p.(Trp689Arg)	NC_000017.10:g.7800581T>C	VUS	1 lab	0804a4dd77
1:235955205 LYST C>T	1	235955205	235955205	C	T	LYST	c.4337G>A	NM_001301365.1	NP_001288294.1:p.(Arg1446Gln)	NC_000001.10:g.235955205C>T	VUS	1 lab	080577dc34
5:110439509 WDR36 A>G	5	110439509	110439509	A	G	WDR36	c.622A>G	NM_139281.3	NP_644810.2:p.(Ile208Val)	NC_000005.9:g.110439509A>G	(Likely) benign	1 lab	e0ab1342ae
18:43450610 EPG5 G>A	18	43450610	43450610	G	A	EPG5	c.6147C>T	NM_020964.3	NP_066015.2:p.(Tyr2049=)	NC_000018.9:g.43450610G>A	(Likely) benign	1 lab	08080a3a14
19:46177998 GIPR C>T	19	46177998	46177998	C	T	GIPR	c.547C>T	NM_000164.4	NP_000155.1:p.(Arg183Ter)	NC_000019.9:g.46177998C>T	VUS	1 lab	0809045654
15:28234803 OCA2 G>A	15	28234803	28234803	G	A	OCA2	c.1126C>T	NM_000275.2	NP_000266.2:p.(Leu376=)	NC_000015.9:g.28234803G>A	(Likely) benign	1 lab	080951caf0
2:202625680 ALS2 T>C	2	202625680	202625680	T	C	ALS2	c.1037A>G	NM_020919.3	NP_065970.2:p.(Asn346Ser)	NC_000002.11:g.202625680T>C	(Likely) benign	1 lab	080a03c4f3
22:51117811 MISSING C>T	22	51117811	51117811	C	T	MISSING				NC_000022.10:g.51117811C>T	(Likely) benign	1 lab	080ba8b5d1
9:441392 DOCK8 G>C	9	441392	441392	G	C	DOCK8	c.5330G>C	NM_203447.3	NP_982272.2:p.(Arg1777Thr)	NC_000009.11:g.441392G>C	(Likely) benign	1 lab	080c62b61d
5:94860163 SKIC3 C>T	5	94860163	94860163	C	T	SKIC3	c.1452+6G>A	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94860163C>T	(Likely) benign	1 lab	080d5032b5
9:396872 DOCK8 A>G	9	396872	396872	A	G	DOCK8	c.3058A>G	NM_203447.3	NP_982272.2:p.(Ile1020Val)	NC_000009.11:g.396872A>G	(Likely) benign	1 lab	080dd89280
3:148714250 GYG1 A>T	3	148714250	148714250	A	T	GYG1	c.305A>T	NM_004130.3	NP_004121.2:p.(Asp102Val)	NC_000003.11:g.148714250A>T	(Likely) benign	1 lab	080eb9ea30
1:144871788 PDE4DIP C>G	1	144871788	144871788	C	G	PDE4DIP	c.5174G>C	NM_014644.5	NP_055459.5:p.(Gly1725Ala)	NC_000001.10:g.144871788C>G	VUS	1 lab	080f36b928
5:133537716 PPP2CA A>G	5	133537716	133537716	A	G	PPP2CA	c.313-4T>C	NM_002715.4	NP_002706.1:p.?	NC_000005.9:g.133537716A>G	(Likely) benign	1 lab	e0ac536740
7:70252256 AUTS2 C>T	7	70252256	70252256	C	T	AUTS2				NC_000007.13:g.70252256C>T	(Likely) benign	1 lab	0810fd3cd7
6:111696053 REV3L G>A	6	111696053	111696053	G	A	REV3L	c.3505C>T	NM_002912.5	NP_002903.3:p.(Arg1169Cys)	NC_000006.11:g.111696053G>A	VUS	1 lab	e0afa7a48c
3:129247908 RHO A>G	3	129247908	129247908	A	G	RHO	c.332A>G	NM_000539.3	NP_000530.1:p.(Asn111Ser)	NC_000003.11:g.129247908A>G	VUS	1 lab	0812c41f9a
22:51159170 SHANK3 C>T	22	51159170	51159170	C	T	SHANK3	c.3134C>T	NM_001372044.2	NP_001358973.1:p.(Ala1045Val)	NC_000022.10:g.51159170C>T	VUS	1 lab	e0b244b411
13:24796997 SPATA13 A>G	13	24796997	24796997	A	G	SPATA13	c.116A>G	NM_001286792.1	NP_001273721.1:p.(Glu39Gly)	NC_000013.10:g.24796997A>G	VUS	1 lab	0814ad8bc6
2:219296870 VIL1 C>T	2	219296870	219296870	C	T	VIL1	c.1305C>T	NM_007127.2	NP_009058.2:p.(Ile435=)	NC_000002.11:g.219296870C>T	(Likely) benign	1 lab	081a371f78
X:54578377 GNL3L C>T	X	54578377	54578377	C	T	GNL3L	c.1151C>T	NM_001184819.2	NP_001171748.1:p.(Ala384Val)	NC_000023.10:g.54578377C>T	(Likely) benign	1 lab	081a92acab
5:156479567 HAVCR1 TC>T	5	156479567	156479568	TC	T	HAVCR1	c.477del	NM_012206.3	NP_036338.2:p.(Thr160LeufsTer11)	NC_000005.9:g.156479568del	(Likely) benign	1 lab	e0b4d1018d
1:8418651 RERE C>G	1	8418651	8418651	C	G	RERE	c.3944G>C	NM_012102.4	NP_036234.3:p.(Arg1315Pro)	NC_000001.10:g.8418651C>G	VUS	1 lab	e0b50079e9
X:53106158 GPR173 G>A	X	53106158	53106158	G	A	GPR173	c.355G>A	NM_018969.5	NP_061842.1:p.(Val119Ile)	NC_000023.10:g.53106158G>A	(Likely) benign	1 lab	081b05a85a
4:128841934 MFSD8 T>C	4	128841934	128841934	T	C	MFSD8	c.1408A>G	NM_152778.2	NP_689991.1:p.(Met470Val)	NC_000004.11:g.128841934T>C	(Likely) benign	1 lab	081c4032ac
21:46875637 COL18A1 A>AC	21	46875637	46875643	A	AC	COL18A1	c.199dup	NM_130444.3	NP_569711.2:p.(Arg67ProfsTer15)	NC_000021.8:g.46875643dup	VUS	1 lab	081c478f39
5:94818320 SKIC3 G>C	5	94818320	94818320	G	C	SKIC3	c.4069C>G	NM_014639.3	NP_055454.1:p.(Pro1357Ala)	NC_000005.9:g.94818320G>C	VUS	1 lab	081c74d9e1
17:40688564 NAGLU T>C	17	40688564	40688564	T	C	NAGLU	c.274T>C	NM_000263.3	NP_000254.2:p.(Tyr92His)	NC_000017.10:g.40688564T>C	VUS	1 lab	081c9eb751
2:219135274 PNKD G>A	2	219135274	219135274	G	A	PNKD	c.16G>A	NM_015488.4	NP_056303.3:p.(Ala6Thr)	NC_000002.11:g.219135274G>A	VUS	1 lab	081ca2497f
5:171766704 SH3PXD2B G>A	5	171766704	171766704	G	A	SH3PXD2B	c.1405C>T	NM_001017995.2	NP_001017995.1:p.(Pro469Ser)	NC_000005.9:g.171766704G>A	VUS	1 lab	081e4a8b00
17:29559858 NF1 T>TA	17	29559858	29559859	T	TA	NF1	c.3456dup	NM_000267.3	NP_000258.1:p.(Leu1153ThrfsTer42)	NC_000017.10:g.29559859dup	(Likely) pathogenic	1 lab	082015252a
X:153694106 PLXNA3 G>A	X	153694106	153694106	G	A	PLXNA3	c.2448G>A	NM_017514.4	NP_059984.3:p.(Leu816=)	NC_000023.10:g.153694106G>A	(Likely) benign	1 lab	08204c2b11
19:37487936 ZNF568 A>G	19	37487936	37487936	A	G	ZNF568	c.1343A>G	NM_001204838.1	NP_001191767.1:p.(Glu448Gly)	NC_000019.9:g.37487936A>G	VUS	1 lab	0822c7086a
11:67222941 CABP4 T>C	11	67222941	67222941	T	C	CABP4	c.47T>C	NM_145200.3	NP_660201.1:p.(Ile16Thr)	NC_000011.9:g.67222941T>C	VUS	1 lab	0822edecd8
1:19228947 ALDH4A1 C>T	1	19228947	19228947	C	T	ALDH4A1	c.62+9G>A	NM_001319218.1	NP_001306147.1:p.?	NC_000001.10:g.19228947C>T	(Likely) benign	1 lab	0826854606
20:33588353 MYH7B C>G	20	33588353	33588353	C	G	MYH7B	c.5165C>G	NM_020884.4	NP_065935.3:p.(Ala1722Gly)	NC_000020.10:g.33588353C>G	VUS	1 lab	08269cc593
X:107037518 NCBP2L A>T	X	107037518	107037518	A	T	NCBP2L	c.68A>T	NM_001348372.1	NP_001335301.1:p.(Gln23Leu)	NC_000023.10:g.107037518A>T	VUS	1 lab	0826a57d50
15:52638651 MYO5A A>G	15	52638651	52638651	A	G	MYO5A	c.3866T>C	NM_000259.3	NP_000250.3:p.(Met1289Thr)	NC_000015.9:g.52638651A>G	(Likely) benign	1 lab	082707a652
14:39619577 TRAPPC6B G>A	14	39619577	39619577	G	A	TRAPPC6B	c.454C>T	NM_001079537.2	NP_001073005.1:p.(Gln152Ter)	NC_000014.8:g.39619577G>A	VUS	1 lab	08274356f6
17:40947268 WNK4 C>T	17	40947268	40947268	C	T	WNK4	c.2829C>T	NM_032387.4	NP_115763.2:p.(Ser943=)	NC_000017.10:g.40947268C>T	(Likely) benign	1 lab	082788a156
6:3225702 TUBB2B C>G	6	3225702	3225702	C	G	TUBB2B	c.621G>C	NM_178012.4	NP_821080.1:p.(Leu207=)	NC_000006.11:g.3225702C>G	(Likely) benign	1 lab	082957b3ae
17:18043982 MYO15A G>C	17	18043982	18043982	G	C	MYO15A	c.5360+3G>C	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18043982G>C	(Likely) benign	1 lab	082a20db98
8:62563618 ASPH C>T	8	62563618	62563618	C	T	ASPH	c.481G>A	NM_004318.3	NP_004309.2:p.(Ala161Thr)	NC_000008.10:g.62563618C>T	VUS	1 lab	082ab44a27
1:11861449 MTHFR G>C	1	11861449	11861449	G	C	MTHFR	c.367C>G	NM_001330358.1	NP_001317287.1:p.(Arg123Gly)	NC_000001.10:g.11861449G>C	VUS	1 lab	082cd47a0e
6:152718008 SYNE1 T>C	6	152718008	152718008	T	C	SYNE1	c.7458A>G	NM_182961.3	NP_892006.3:p.(Gln2486=)	NC_000006.11:g.152718008T>C	(Likely) benign	1 lab	082d2c5c9b
22:41551018 EP300 A>G	22	41551018	41551018	A	G	EP300	c.3162A>G	NM_001429.3	NP_001420.2:p.(Leu1054=)	NC_000022.10:g.41551018A>G	(Likely) benign	1 lab	082d959faa
13:110804770 COL4A1 G>A	13	110804770	110804770	G	A	COL4A1	c.4839C>T	NM_001845.5	NP_001836.3:p.(Phe1613=)	NC_000013.10:g.110804770G>A	(Likely) benign	1 lab	082d9f165b
7:44148949 AEBP1 G>A	7	44148949	44148949	G	A	AEBP1	c.1150+9G>A	NM_001129.4	NP_001120.3:p.?	NC_000007.13:g.44148949G>A	(Likely) benign	1 lab	082dd48b5f
4:126242567 FAT4 T>A	4	126242567	126242567	T	A	FAT4	c.5001T>A	NM_024582.4	NP_078858.4:p.(Ile1667=)	NC_000004.11:g.126242567T>A	(Likely) benign	1 lab	082f15bfd8
6:152589287 SYNE1 TC>T	6	152589287	152589289	TC	T	SYNE1	c.18718del	NM_182961.4	NP_892006.3:p.(Glu6240AsnfsTer2)	NC_000006.11:g.152589289del	(Likely) pathogenic	1 lab	082f43b318
X:102612846 TCEAL9 T>C	X	102612846	102612846	T	C	TCEAL9	c.234T>C	NM_016303.3	NP_057387.1:p.(Asp78=)	NC_000023.10:g.102612846T>C	(Likely) benign	1 lab	082fef1bc2
11:65637637 EFEMP2 A>C	11	65637637	65637637	A	C	EFEMP2	c.562T>G	NM_016938.4	NP_058634.4:p.(Cys188Gly)	NC_000011.9:g.65637637A>C	VUS	1 lab	0831257898
6:31994814 C4B A>T	6	31994814	31994814	A	T	C4B	c.2507A>T	NM_001002029.3	NP_001002029.3:p.(His836Leu)	NC_000006.11:g.31994814A>T	VUS	1 lab	083142e11e
11:1267805 MUC5B C>A	11	1267805	1267805	C	A	MUC5B	c.9695C>A	NM_002458.2	NP_002449.2:p.(Pro3232His)	NC_000011.9:g.1267805C>A	(Likely) benign	1 lab	0833c84e3a
X:102931606 MORF4L2 T>C	X	102931606	102931606	T	C	MORF4L2	c.350A>G	NM_001142418.1	NP_001135890.1:p.(Asn117Ser)	NC_000023.10:g.102931606T>C	(Likely) benign	1 lab	0833d7708d
X:37027906 FAM47C T>C	X	37027906	37027906	T	C	FAM47C	c.1423T>C	NM_001013736.2	NP_001013758.1:p.(Cys475Arg)	NC_000023.10:g.37027906T>C	(Likely) benign	1 lab	08346ef79b
X:3030307 ARSF G>A	X	3030307	3030307	G	A	ARSF	c.1483G>A	NM_001201539.1	NP_001188468.1:p.(Gly495Arg)	NC_000023.10:g.3030307G>A	VUS	1 lab	0835cda4b3
1:228473854 OBSCN G>A	1	228473854	228473854	G	A	OBSCN	c.10367G>A	NM_001271223.2	NP_001258152.2:p.(Arg3456Gln)	NC_000001.10:g.228473854G>A	VUS	1 lab	0837e1dbba
16:2122380 TSC2 T>G	16	2122380	2122380	T	G	TSC2	c.2220+16T>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2122380T>G	(Likely) benign	1 lab	e0bb0eb43b
X:49020136 MAGIX C>G	X	49020136	49020136	C	G	MAGIX	c.65C>G	NM_024859.3	NP_079135.3:p.(Pro22Arg)	NC_000023.10:g.49020136C>G	(Likely) benign	1 lab	08393cfc25
6:125283952 RNF217 G>T	6	125283952	125283952	G	T	RNF217	c.262G>T	NM_001286398.2	NP_001273327.1:p.(Ala88Ser)	NC_000006.11:g.125283952G>T	VUS	1 lab	083960118a
15:44949399 SPG11 T>C	15	44949399	44949399	T	C	SPG11	c.763A>G	NM_025137.3	NP_079413.3:p.(Lys255Glu)	NC_000015.9:g.44949399T>C	(Likely) benign	1 lab	0839fc94d0
12:6626015 NCAPD2 G>A	12	6626015	6626015	G	A	NCAPD2	c.1009G>A	NM_014865.4	NP_055680.3:p.(Val337Met)	NC_000012.11:g.6626015G>A	VUS	1 lab	083a7670ab
12:109945527 UBE3B C>T	12	109945527	109945527	C	T	UBE3B	c.1609C>T	NM_130466.3	NP_569733.2:p.(Arg537Trp)	NC_000012.11:g.109945527C>T	VUS	1 lab	083aac4f01
X:101970039 ARMCX5-GPRASP2 T>C	X	101970039	101970039	T	C	ARMCX5-GPRASP2	c.242T>C	NM_001199818.1	NP_001186747.1:p.(Met81Thr)	NC_000023.10:g.101970039T>C	VUS	1 lab	083b627d70
12:9360854 PZP C>T	12	9360854	9360854	C	T	PZP	c.83+1G>A	NM_002864.2	NP_002855.2:p.?	NC_000012.11:g.9360854C>T	VUS	1 lab	083b878874
22:36690337 MYH9 G>C	22	36690337	36690337	G	C	MYH9	c.3638C>G	NM_002473.5	NP_002464.1:p.(Ala1213Gly)	NC_000022.10:g.36690337G>C	VUS	1 lab	083bf11859
17:17046039 MPRIP G>A	17	17046039	17046039	G	A	MPRIP	c.995G>A	NM_201274.3	NP_958431.2:p.(Arg332His)	NC_000017.10:g.17046039G>A	VUS	1 lab	083c42d375
4:123663105 BBS12 T>C	4	123663105	123663105	T	C	BBS12	c.58T>C	NM_001178007.1	NP_001171478.1:p.(Ser20Pro)	NC_000004.11:g.123663105T>C	(Likely) benign	1 lab	083ed466c9
10:21148648 NEBL C>T	10	21148648	21148648	C	T	NEBL	c.792G>A	NM_006393.2	NP_006384.1:p.(Ala264=)	NC_000010.10:g.21148648C>T	(Likely) benign	1 lab	083ee60521
17:78085780 GAA A>G	17	78085780	78085780	A	G	GAA	c.1637-2A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78085780A>G	(Likely) pathogenic	1 lab	084026380b
1:11333813 UBIAD1 C>T	1	11333813	11333813	C	T	UBIAD1	c.225C>T	NM_013319.2	NP_037451.1:p.(Ser75=)	NC_000001.10:g.11333813C>T	(Likely) benign	1 lab	0840c597fa
11:72141361 CLPB G>A	11	72141361	72141361	G	A	CLPB	c.208C>T	NM_001258394.2	NP_001245323.1:p.(Gln70Ter)	NC_000011.9:g.72141361G>A	(Likely) pathogenic	1 lab	0842d87fc6
X:102192303 RAB40AL G>T	X	102192303	102192303	G	T	RAB40AL	c.57G>T	NM_001031834.1	NP_001027004.1:p.(Leu19=)	NC_000023.10:g.102192303G>T	(Likely) benign	1 lab	084334788c
10:43620373 RET A>C	10	43620373	43620373	A	C	RET	c.2982A>C	NM_020975.4	NP_066124.1:p.(Lys994Asn)	NC_000010.10:g.43620373A>C	VUS	1 lab	0844f65062
17:29560174 NF1 T>A	17	29560174	29560174	T	A	NF1	c.3651T>A	NM_000267.3	NP_000258.1:p.(Asp1217Glu)	NC_000017.10:g.29560174T>A	(Likely) pathogenic	1 lab	08453ab9c6
5:138282880 SIL1 G>A	5	138282880	138282880	G	A	SIL1	c.1312C>T	NM_001037633.1	NP_001032722.1:p.(Gln438Ter)	NC_000005.9:g.138282880G>A	(Likely) pathogenic	1 lab	0845be8969
21:34721724 IFNAR1 A>G	21	34721724	34721724	A	G	IFNAR1	c.1018A>G	NM_000629.3	NP_000620.2:p.(Arg340Gly)	NC_000021.8:g.34721724A>G	(Likely) benign	1 lab	0847621060
3:49885642 TRAIP A>C	3	49885642	49885642	A	C	TRAIP	c.99-9T>G	NM_005879.2	NP_005870.2:p.?	NC_000003.11:g.49885642A>C	(Likely) benign	1 lab	08479511a8
14:90509460 TDP1 G>A	14	90509460	90509460	G	A	TDP1	c.1691G>A	NM_001330205.1	NP_001317134.1:p.(Arg564His)	NC_000014.8:g.90509460G>A	(Likely) benign	1 lab	0847fe0653
22:37524791 IL2RB G>A	22	37524791	37524791	G	A	IL2RB	c.1001C>T	NM_001346222.1	NP_001333151.1:p.(Thr334Met)	NC_000022.10:g.37524791G>A	VUS	1 lab	084b8377c3
X:17746012 NHS G>A	X	17746012	17746012	G	A	NHS	c.3786G>A	NM_001291867.1	NP_001278796.1:p.(Thr1262=)	NC_000023.10:g.17746012G>A	(Likely) benign	1 lab	084bd68373
3:46939588 PTH1R G>T	3	46939588	46939588	G	T	PTH1R	c.449G>T	NM_000316.2	NP_000307.1:p.(Arg150Leu)	NC_000003.11:g.46939588G>T	VUS	1 lab	084c1fffc9
1:11259399 MTOR C>T	1	11259399	11259399	C	T	MTOR	c.4169G>A	NM_004958.3	NP_004949.1:p.(Cys1390Tyr)	NC_000001.10:g.11259399C>T	VUS	1 lab	084cccccfe
X:153696235 PLXNA3 C>T	X	153696235	153696235	C	T	PLXNA3	c.3711C>T	NM_017514.4	NP_059984.3:p.(Ala1237=)	NC_000023.10:g.153696235C>T	(Likely) benign	1 lab	084de8dae6
2:55894232 PNPT1 T>A	2	55894232	55894232	T	A	PNPT1	c.1074-4A>T	NM_033109.4	NP_149100.2:p.?	NC_000002.11:g.55894232T>A	(Likely) benign	1 lab	084e832626
4:126241981 FAT4 A>G	4	126241981	126241981	A	G	FAT4	c.4415A>G	NM_001291303.1	NP_001278232.1:p.(Asp1472Gly)	NC_000004.11:g.126241981A>G	VUS	1 lab	084ef72231
1:160012074 KCNJ10 G>A	1	160012074	160012074	G	A	KCNJ10	c.249C>T	NM_002241.4	NP_002232.2:p.(Gly83=)	NC_000001.10:g.160012074G>A	(Likely) benign	1 lab	08509af028
6:7580404 DSP C>T	6	7580404	7580404	C	T	DSP	c.3981C>T	NM_004415.2	NP_004406.2:p.(Ile1327=)	NC_000006.11:g.7580404C>T	(Likely) benign	1 lab	085121dba5
X:18924641 PHKA2 C>T	X	18924641	18924641	C	T	PHKA2	c.2778G>A	NM_000292.2	NP_000283.1:p.(Thr926=)	NC_000023.10:g.18924641C>T	(Likely) benign	1 lab	08513c156f
17:8790473 PIK3R5 G>A	17	8790473	8790473	G	A	PIK3R5	c.1845C>T	NM_014308.3	NP_055123.2:p.(Asp615=)	NC_000017.10:g.8790473G>A	(Likely) benign	1 lab	08515a12dc
3:196229836 RNF168 G>T	3	196229836	196229836	G	T	RNF168	c.209C>A	NM_152617.3	NP_689830.2:p.(Ser70Tyr)	NC_000003.11:g.196229836G>T	VUS	1 lab	0851faea51
15:40901102 KNL1 ATAAAG>A	15	40901102	40901110	ATAAAG	A	KNL1	c.197_197+4del	NM_144508.5	NP_653091.3:p.?	NC_000015.9:g.40901106_40901110del	(Likely) pathogenic	1 lab	0852e33c01
3:48623136 COL7A1 T>C	3	48623136	48623136	T	C	COL7A1	c.3818A>G	NM_000094.3	NP_000085.1:p.(Asp1273Gly)	NC_000003.11:g.48623136T>C	(Likely) benign	1 lab	0853860791
18:55218054 FECH G>T	18	55218054	55218054	G	T	FECH				NC_000018.9:g.55218054G>T	(Likely) pathogenic	1 lab	085489da88
12:40677852 LRRK2 G>A	12	40677852	40677852	G	A	LRRK2	c.2417G>A	NM_198578.3	NP_940980.3:p.(Gly806Glu)	NC_000012.11:g.40677852G>A	VUS	1 lab	0855395fe0
6:71665739 B3GAT2 G>C	6	71665739	71665739	G	C	B3GAT2	c.394C>G	NM_080742.2	NP_542780.1:p.(Arg132Gly)	NC_000006.11:g.71665739G>C	(Likely) benign	1 lab	085b547592
9:135797317 TSC1 C>G	9	135797317	135797317	C	G	TSC1	c.552G>C	NM_000368.4	NP_000359.1:p.(Val184=)	NC_000009.11:g.135797317C>G	(Likely) benign	1 lab	085d0f025b
X:153297995 MECP2 C>G	X	153297995	153297995	C	G	MECP2	c.40G>C	NM_004992.3	NP_004983.1:p.(Glu14Gln)	NC_000023.10:g.153297995C>G	VUS	1 lab	085ef984b3
20:2411129 TGM6 T>A	20	2411129	2411129	T	A	TGM6	c.1716T>A	NM_198994.3	NP_945345.2:p.(Tyr572Ter)	NC_000020.10:g.2411129T>A	(Likely) pathogenic	1 lab	e0bdffa8b5
2:233712244 GIGYF2 A>C	2	233712244	233712244	A	C	GIGYF2	c.3647A>C	NM_015575.3	NP_056390.2:p.(Gln1216Pro)	NC_000002.11:g.233712244A>C	(Likely) benign	1 lab	0860fb2729
10:101165958 GOT1 G>A	10	101165958	101165958	G	A	GOT1	c.473C>T	NM_002079.2	NP_002070.1:p.(Ser158Phe)	NC_000010.10:g.101165958G>A	(Likely) benign	1 lab	0863c3b2eb
2:179600612 TTN A>C	2	179600612	179600612	A	C	TTN	c.14561T>G	NM_001267550.2	NP_001254479.2:p.(Leu4854Arg)	NC_000002.11:g.179600612A>C	VUS	1 lab	e0c469fc21
8:55533890 RP1 CGGCGCCCGCGGCCCT>C	8	55533890	55533908	CGGCGCCCGCGGCCCT	C	RP1	c.368_382del	NM_006269.2	NP_006260.1:p.(Arg123_Trp127del)	NC_000008.10:g.55533894_55533908del	VUS	1 lab	0866ca1c22
18:19444580 MIB1 T>C	18	19444580	19444580	T	C	MIB1	c.2974T>C	NM_020774.4	NP_065825.1:p.(Cys992Arg)	NC_000018.9:g.19444580T>C	VUS	1 lab	e0c5e6a701
2:189858965 COL3A1 C>T	2	189858965	189858965	C	T	COL3A1	c.1200C>T	NM_000090.3	NP_000081.1:p.(Pro400=)	NC_000002.11:g.189858965C>T	(Likely) benign	1 lab	0868b74b10
7:101844909 CUX1 C>T	7	101844909	101844909	C	T	CUX1	c.2365C>T	NM_001202543.1	NP_001189472.1:p.(Leu789=)	NC_000007.13:g.101844909C>T	(Likely) benign	1 lab	086c3261f5
5:112478919 MCC T>A	5	112478919	112478919	T	A	MCC	c.880A>T	NM_001085377.1	NP_001078846.1:p.(Ile294Phe)	NC_000005.9:g.112478919T>A	VUS	1 lab	0879220d36
15:31295176 TRPM1 C>T	15	31295176	31295176	C	T	TRPM1	c.3778G>A	NM_001252020.1	NP_001238949.1:p.(Glu1260Lys)	NC_000015.9:g.31295176C>T	VUS	1 lab	086ccdc8b1
7:105187723 RINT1 C>T	7	105187723	105187723	C	T	RINT1	c.782C>T	NM_021930.5	NP_068749.3:p.(Pro261Leu)	NC_000007.13:g.105187723C>T	(Likely) benign	1 lab	086ccdf767
X:32407680 DMD G>A	X	32407680	32407680	G	A	DMD	c.4087C>T	NM_004010.3	NP_004001.1:p.(Pro1363Ser)	NC_000023.10:g.32407680G>A	VUS	1 lab	086cff7c86
3:119529030 NR1I2 TGAA>T	3	119529030	119529037	TGAA	T	NR1I2	c.325_327del	NM_003889.4	NP_003880.3:p.(Lys109del)	NC_000003.11:g.119529035_119529037del	VUS	1 lab	086ea97b1a
6:108230214 SEC63 C>T	6	108230214	108230214	C	T	SEC63	c.650G>A	NM_007214.5	NP_009145.1:p.(Arg217His)	NC_000006.11:g.108230214C>T	(Likely) benign	1 lab	e0c6244078
18:19358132 MIB1 T>G	18	19358132	19358132	T	G	MIB1	c.703+2T>G	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19358132T>G	(Likely) pathogenic	1 lab	08716a3328
3:49751345 RNF123 G>A	3	49751345	49751345	G	A	RNF123	c.2840G>A	NM_022064.4	NP_071347.2:p.(Arg947His)	NC_000003.11:g.49751345G>A	VUS	1 lab	087186817a
19:9083882 MUC16 G>A	19	9083882	9083882	G	A	MUC16	c.7933C>T	NM_024690.2	NP_078966.2:p.(Pro2645Ser)	NC_000019.9:g.9083882G>A	(Likely) benign	1 lab	0872af2057
1:26128605 SELENON CTGAG>C	1	26128605	26128610	CTGAG	C	SELENON	c.301+956_301+959del	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26128607_26128610del	(Likely) pathogenic	1 lab	0873e5de8e
3:132219684 DNAJC13 A>G	3	132219684	132219684	A	G	DNAJC13	c.4463A>G	NM_015268.4	NP_056083.3:p.(Glu1488Gly)	NC_000003.11:g.132219684A>G	VUS	1 lab	08743262f2
X:147743814 AFF2 C>G	X	147743814	147743814	C	G	AFF2	c.566C>G	NM_002025.3	NP_002016.2:p.(Ser189Cys)	NC_000023.10:g.147743814C>G	(Likely) benign	1 lab	0876338ecf
9:133364792 ASS1 G>A	9	133364792	133364792	G	A	ASS1	c.911G>A	NM_000050.4	NP_000041.2:p.(Arg304Gln)	NC_000009.11:g.133364792G>A	VUS	1 lab	0877f8bd0e
6:170169819 ERMARD A>G	6	170169819	170169819	A	G	ERMARD	c.1233+10A>G	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170169819A>G	(Likely) benign	1 lab	0879c2cefc
11:128840897 ARHGAP32 G>A	11	128840897	128840897	G	A	ARHGAP32	c.4169C>T	NM_001142685.1	NP_001136157.1:p.(Ala1390Val)	NC_000011.9:g.128840897G>A	(Likely) benign	1 lab	087ae17fc8
4:79462086 FRAS1 T>C	4	79462086	79462086	T	C	FRAS1	c.11847T>C	NM_025074.7	NP_079350.5:p.(Asn3949=)	NC_000004.11:g.79462086T>C	(Likely) benign	1 lab	087ae5ac88
1:36563981 COL8A2 C>T	1	36563981	36563981	C	T	COL8A2	c.1301G>A	NM_005202.3	NP_005193.1:p.(Arg434His)	NC_000001.10:g.36563981C>T	(Likely) benign	1 lab	087ba9baf2
22:50671799 TUBGCP6 T>C	22	50671799	50671799	T	C	TUBGCP6	c.1062A>G	NM_020461.3	NP_065194.2:p.(Lys354=)	NC_000022.10:g.50671799T>C	(Likely) benign	1 lab	087c1bfc03
16:70928407 HYDIN C>T	16	70928407	70928407	C	T	HYDIN	c.9193G>A	NM_001270974.2	NP_001257903.1:p.(Glu3065Lys)	NC_000016.9:g.70928407C>T	VUS	1 lab	e0d0f780c8
9:139732331 RABL6 G>C	9	139732331	139732331	G	C	RABL6	c.1147G>C	NM_001173988.2	NP_001167459.1:p.(Glu383Gln)	NC_000009.11:g.139732331G>C	(Likely) benign	1 lab	e0d1540366
X:12906675 TLR7 A>C	X	12906675	12906675	A	C	TLR7	c.3048A>C	NM_016562.3	NP_057646.1:p.(Pro1016=)	NC_000023.10:g.12906675A>C	(Likely) benign	1 lab	087caa6763
7:24758721 GSDME A>G	7	24758721	24758721	A	G	GSDME	c.521T>C	NM_004403.2	NP_004394.1:p.(Met174Thr)	NC_000007.13:g.24758721A>G	(Likely) benign	1 lab	087e63bf57
11:1265399 MUC5B C>T	11	1265399	1265399	C	T	MUC5B	c.7289C>T	NM_002458.2	NP_002449.2:p.(Pro2430Leu)	NC_000011.9:g.1265399C>T	(Likely) benign	1 lab	087ebcd66c
8:6302720 MCPH1 C>T	8	6302720	6302720	C	T	MCPH1	c.1477C>T	NM_024596.4	NP_078872.2:p.(Arg493Cys)	NC_000008.10:g.6302720C>T	(Likely) benign	1 lab	0881d01ace
3:57391570 DNAH12 C>G	3	57391570	57391570	C	G	DNAH12	c.6386G>C	NM_001366028.2	NP_001352957.1:p.(Arg2129Thr)	NC_000003.11:g.57391570C>G	VUS	1 lab	e0d16c9fab
1:36932227 CSF3R C>T	1	36932227	36932227	C	T	CSF3R	c.2323G>A	NM_156039.3	NP_724781.1:p.(Asp775Asn)	NC_000001.10:g.36932227C>T	(Likely) benign	1 lab	088416454c
9:135786379 TSC1 A>G	9	135786379	135786379	A	G	TSC1	c.1141+10T>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786379A>G	(Likely) benign	1 lab	0884761adc
18:42449253 SETBP1 G>C	18	42449253	42449253	G	C	SETBP1	c.540+5G>C	NM_015559.3	NP_056374.2:p.?	NC_000018.9:g.42449253G>C	(Likely) benign	1 lab	e0d6234040
1:33236322 NHSL3 G>A	1	33236322	33236322	G	A	NHSL3	c.1542G>A	NM_020888.3	NP_065939.2:p.(Val514=)	NC_000001.10:g.33236322G>A	(Likely) benign	1 lab	0885245297
11:71949118 INPPL1 G>T	11	71949118	71949118	G	T	INPPL1	c.3585G>T	NM_001567.3	NP_001558.3:p.(Gly1195=)	NC_000011.9:g.71949118G>T	(Likely) benign	1 lab	08856b5bca
17:18024689 MYO15A C>T	17	18024689	18024689	C	T	MYO15A	c.2575C>T	NM_016239.3	NP_057323.3:p.(Arg859Cys)	NC_000017.10:g.18024689C>T	VUS	1 lab	0886674dc1
16:57935297 CNGB1 G>A	16	57935297	57935297	G	A	CNGB1	c.2935C>T	NM_001297.4	NP_001288.3:p.(Arg979Cys)	NC_000016.9:g.57935297G>A	VUS	1 lab	08873b3186
9:133884600 LAMC3 C>T	9	133884600	133884600	C	T	LAMC3	c.-2C>T	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133884600C>T	(Likely) benign	1 lab	0887c36be6
X:39921430 BCOR CG>C	X	39921430	39921431	CG	C	BCOR	c.4389del	NM_001123385.2	NP_001116857.1:p.(Glu1464ArgfsTer20)	NC_000023.10:g.39921431del	(Likely) pathogenic	1 lab	0887dce9fd
16:2160603 PKD1 T>G	16	2160603	2160603	T	G	PKD1	c.4565A>C	NM_001009944.2	NP_001009944.2:p.(Asp1522Ala)	NC_000016.9:g.2160603T>G	(Likely) benign	1 lab	0888b37f0c
2:121743955 GLI2 G>C	2	121743955	121743955	G	C	GLI2	c.2058G>C	NM_005270.4	NP_005261.2:p.(Thr686=)	NC_000002.11:g.121743955G>C	(Likely) benign	1 lab	0889b7bfff
4:15482870 CC2D2A C>T	4	15482870	15482870	C	T	CC2D2A	c.297C>T	NM_001164720.1	NP_001158192.1:p.(His99=)	NC_000004.11:g.15482870C>T	(Likely) benign	1 lab	088ef3c757
1:240256781 FMN2 G>A	1	240256781	240256781	G	A	FMN2	c.1372G>A	NM_001305424.1	NP_001292353.1:p.(Ala458Thr)	NC_000001.10:g.240256781G>A	(Likely) benign	1 lab	08927b3309
19:872012 MED16 CT>C	19	872012	872013	CT	C	MED16	c.2011del	NM_005481.3	NP_005472.2:p.(Ser671AlafsTer146)	NC_000019.9:g.872013del	VUS	1 lab	089283969c
15:91303490 BLM C>T	15	91303490	91303490	C	T	BLM	c.76C>T	NM_001287248.1	NP_001274177.1:p.(Leu26Phe)	NC_000015.9:g.91303490C>T	VUS	1 lab	0892bae7a2
2:38960642 GALM C>G	2	38960642	38960642	C	G	GALM	c.964C>G	NM_138801.3	NP_620156.1:p.(Pro322Ala)	NC_000002.11:g.38960642C>G	VUS	1 lab	0893aeb9b2
5:112175825 APC GA>G	5	112175825	112175826	GA	G	APC	c.4535del	NM_000038.6	NP_000029.2:p.(Asp1512ValfsTer11)	NC_000005.9:g.112175826del	(Likely) pathogenic	1 lab	0895f33df2
3:132196983 DNAJC13 G>A	3	132196983	132196983	G	A	DNAJC13	c.2708G>A	NM_015268.4	NP_056083.3:p.(Arg903Lys)	NC_000003.11:g.132196983G>A	VUS	1 lab	089780ff68
8:55541616 RP1 A>T	8	55541616	55541616	A	T	RP1	c.5174A>T	NM_006269.1	NP_006260.1:p.(Gln1725Leu)	NC_000008.10:g.55541616A>T	VUS	1 lab	0897b810dc
X:114424089 RBMXL3 G>A	X	114424089	114424089	G	A	RBMXL3	c.85G>A	NM_001145346.1	NP_001138818.1:p.(Gly29Ser)	NC_000023.10:g.114424089G>A	(Likely) benign	1 lab	089a2ce258
14:23863388 MYH6 G>A	14	23863388	23863388	G	A	MYH6	c.2574C>T	NM_002471.3	NP_002462.2:p.(Phe858=)	NC_000014.8:g.23863388G>A	(Likely) benign	1 lab	089aeec8f7
3:4703937 ITPR1 C>T	3	4703937	4703937	C	T	ITPR1	c.1412+11C>T	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4703937C>T	(Likely) benign	1 lab	089b38f315
19:5893121 NDUFA11 G>A	19	5893121	5893121	G	A	NDUFA11	c.494C>T	NM_001193375.1	NP_001180304.1:p.(Ala165Val)	NC_000019.9:g.5893121G>A	VUS	1 lab	089beac668
2:179597992 TTN G>A	2	179597992	179597992	G	A	TTN	c.16028C>T	NM_001267550.1	NP_001254479.1:p.(Ser5343Phe)	NC_000002.11:g.179597992G>A	VUS	1 lab	089ef7e6e5
X:153295940 MECP2 C>T	X	153295940	153295940	C	T	MECP2	c.1339G>A	NM_004992.3	NP_004983.1:p.(Ala447Thr)	NC_000023.10:g.153295940C>T	VUS	1 lab	089f9db531
3:58094994 FLNB A>G	3	58094994	58094994	A	G	FLNB	c.2144A>G	NM_001457.4	NP_001448.2:p.(Lys715Arg)	NC_000003.11:g.58094994A>G	VUS	1 lab	e0d7d5b490
7:51096682 COBL C>G	7	51096682	51096682	C	G	COBL	c.2282G>C	NM_001287436.2	NP_001274365.1:p.(Gly761Ala)	NC_000007.13:g.51096682C>G	VUS	1 lab	08a170945f
1:9775814 PIK3CD C>T	1	9775814	9775814	C	T	PIK3CD	c.357C>T	NM_005026.3	NP_005017.3:p.(Leu119=)	NC_000001.10:g.9775814C>T	(Likely) benign	1 lab	08a2316a9b
6:152774790 SYNE1 G>A	6	152774790	152774790	G	A	SYNE1	c.2958C>T	NM_182961.3	NP_892006.3:p.(Thr986=)	NC_000006.11:g.152774790G>A	(Likely) benign	1 lab	08a3f368ce
14:102516442 DYNC1H1 C>T	14	102516442	102516442	C	T	DYNC1H1	c.13719C>T	NM_001376.4	NP_001367.2:p.(Asn4573=)	NC_000014.8:g.102516442C>T	(Likely) benign	1 lab	08a3f62619
5:150889652 FAT2 C>T	5	150889652	150889652	C	T	FAT2	c.11989G>A	NM_001447.2	NP_001438.1:p.(Glu3997Lys)	NC_000005.9:g.150889652C>T	(Likely) benign	1 lab	08a41ccbf2
8:61764620 CHD7 G>A	8	61764620	61764620	G	A	CHD7				NC_000008.10:g.61764620G>A	(Likely) pathogenic	1 lab	08a4dd3cdf
19:1220375 STK11 C>G	19	1220375	1220375	C	G	STK11	c.468C>G	NM_000455.4	NP_000446.1:p.(Tyr156Ter)	NC_000019.9:g.1220375C>G	(Likely) pathogenic	1 lab	08a51bf74e
12:56396497 SUOX G>A	12	56396497	56396497	G	A	SUOX	c.221G>A	NM_000456.2	NP_000447.2:p.(Arg74Gln)	NC_000012.11:g.56396497G>A	(Likely) benign	1 lab	08a5ca8278
15:42147098 SPTBN5 T>C	15	42147098	42147098	T	C	SPTBN5	c.9500A>G	NM_016642.4	NP_057726.4:p.(Lys3167Arg)	NC_000015.9:g.42147098T>C	(Likely) benign	1 lab	08a6756766
X:47308302 ZNF41 A>G	X	47308302	47308302	A	G	ZNF41	c.867T>C	NM_007130.3	NP_009061.1:p.(His289=)	NC_000023.10:g.47308302A>G	(Likely) benign	1 lab	08c9475432
17:41275962 BRCA1 G>A	17	41275962	41275962	G	A	BRCA1	c.80+72C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41275962G>A	(Likely) benign	1 lab	08a813db8c
10:79741207 POLR3A G>A	10	79741207	79741207	G	A	POLR3A	c.3870C>T	NM_007055.3	NP_008986.2:p.(Leu1290=)	NC_000010.10:g.79741207G>A	(Likely) benign	1 lab	08a8c6f1b1
1:103487334 COL11A1 T>G	1	103487334	103487334	T	G	COL11A1	c.1282-9A>C	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103487334T>G	(Likely) benign	1 lab	08aa441368
11:47364158 MYBPC3 C>T	11	47364158	47364158	C	T	MYBPC3	c.1595G>A	NM_000256.3	NP_000247.2:p.(Gly532Asp)	NC_000011.9:g.47364158C>T	VUS	1 lab	08aa47142b
X:150891199 FATE1 A>G	X	150891199	150891199	A	G	FATE1	c.520A>G	NM_033085.2	NP_149076.1:p.(Ile174Val)	NC_000023.10:g.150891199A>G	(Likely) benign	1 lab	08ab32f919
4:3131703 HTT A>G	4	3131703	3131703	A	G	HTT	c.1802A>G	NM_002111.8	NP_002102.4:p.(Gln601Arg)	NC_000004.11:g.3131703A>G	VUS	1 lab	18fcb7081d
16:2143577 PKD1 G>A	16	2143577	2143577	G	A	PKD1	c.10984C>T	NM_001009944.2	NP_001009944.2:p.(Arg3662Cys)	NC_000016.9:g.2143577G>A	VUS	1 lab	08ad6daab3
11:62415852 INTS5 T>C	11	62415852	62415852	T	C	INTS5	c.1700A>G	NM_030628.2	NP_085131.1:p.(Gln567Arg)	NC_000011.9:g.62415852T>C	(Likely) benign	1 lab	08ad9f9793
14:24567592 PCK2 G>GAGAGGTTTC	14	24567592	24567593	G	GAGAGGTTTC	PCK2	c.54_55insAGAGGTTTC	NM_001308054.1	NP_001294983.1:p.(Met18_Gln19insArgGlyPhe)	NC_000014.8:g.24567592_24567593insAGAGGTTTC	VUS	1 lab	08ae01b192
22:51158856 MISSING G>A	22	51158856	51158856	G	A	MISSING				NC_000022.10:g.51158856G>A	(Likely) benign	1 lab	08ae251a97
2:179441737 TTN C>A	2	179441737	179441737	C	A	TTN	c.69325G>T	NM_001267550.1	NP_001254479.1:p.(Glu23109Ter)	NC_000002.11:g.179441737C>A	(Likely) pathogenic	1 lab	08ae74784b
3:119120882 ARHGAP31 C>G	3	119120882	119120882	C	G	ARHGAP31	c.1283C>G	NM_020754.4	NP_065805.2:p.(Pro428Arg)	NC_000003.11:g.119120882C>G	VUS	1 lab	e0e1b29199
6:26234677 H1-3 G>A	6	26234677	26234677	G	A	H1-3	c.485C>T	NM_005320.2	NP_005311.1:p.(Pro162Leu)	NC_000006.11:g.26234677G>A	VUS	1 lab	08b183d94b
2:63815393 WDPCP A>G	2	63815393	63815393	A	G	WDPCP	c.13T>C	NM_015910.6	NP_056994.3:p.(Phe5Leu)	NC_000002.11:g.63815393A>G	(Likely) benign	1 lab	08b1a540a9
16:4386920 GLIS2 G>A	16	4386920	4386920	G	A	GLIS2	c.970G>A	NM_001318918.1	NP_001305847.1:p.(Glu324Lys)	NC_000016.9:g.4386920G>A	VUS	1 lab	08b1fb4c48
2:1426787 TPO G>A	2	1426787	1426787	G	A	TPO	c.95-30G>A	NM_000547.5	NP_000538.3:p.?	NC_000002.11:g.1426787G>A	(Likely) benign	1 lab	08b411f2db
X:40996193 USP9X G>A	X	40996193	40996193	G	A	USP9X	c.572G>A	NM_001039590.3	NP_001034679.2:p.(Arg191His)	NC_000023.10:g.40996193G>A	VUS	1 lab	e0da25ac79
1:59042482 TACSTD2 G>A	1	59042482	59042482	G	A	TACSTD2	c.347C>T	NM_002353.2	NP_002344.2:p.(Ala116Val)	NC_000001.10:g.59042482G>A	VUS	1 lab	08bf6e363e
15:65916527 SLC24A1 A>T	15	65916527	65916527	A	T	SLC24A1	c.109A>T	NM_004727.3	NP_004718.1:p.(Thr37Ser)	NC_000015.9:g.65916527A>T	(Likely) benign	1 lab	e0dfbcba01
X:103349565 SLC25A53 C>T	X	103349565	103349565	C	T	SLC25A53	c.376G>A	NM_001012755.5	NP_001012773.2:p.(Val126Met)	NC_000023.10:g.103349565C>T	VUS	1 lab	08b8d06fbc
12:9074301 PHC1 C>A	12	9074301	9074301	C	A	PHC1	c.411C>A	NM_004426.2	NP_004417.2:p.(Thr137=)	NC_000012.11:g.9074301C>A	(Likely) benign	1 lab	08ba338fb6
X:46360038 ZNF674 G>A	X	46360038	46360038	G	A	ZNF674	c.986C>T	NM_001039891.2	NP_001034980.1:p.(Thr329Ile)	NC_000023.10:g.46360038G>A	(Likely) benign	1 lab	08ba5549ea
19:51885775 LIM2 G>A	19	51885775	51885775	G	A	LIM2	c.348C>T	NM_030657.3	NP_085915.2:p.(Cys116=)	NC_000019.9:g.51885775G>A	(Likely) benign	1 lab	08ba7efa8f
17:1630507 WDR81 C>T	17	1630507	1630507	C	T	WDR81	c.2254C>T	NM_001163809.1	NP_001157281.1:p.(Pro752Ser)	NC_000017.10:g.1630507C>T	(Likely) benign	1 lab	08ba9c7cf1
1:171605387 MYOC T>C	1	171605387	171605387	T	C	MYOC	c.1193A>G	NM_000261.1	NP_000252.1:p.(Lys398Arg)	NC_000001.10:g.171605387T>C	(Likely) benign	1 lab	08bb58f9d0
20:35563507 SAMHD1 C>G	20	35563507	35563507	C	G	SAMHD1	c.434G>C	NM_001363729.1	NP_001350658.1:p.(Arg145Pro)	NC_000020.10:g.35563507C>G	VUS	1 lab	08bbb6a3e0
3:121289645 ARGFX C>A	3	121289645	121289645	C	A	ARGFX	c.85C>A	NM_001012659.1	NP_001012677.1:p.(Gln29Lys)	NC_000003.11:g.121289645C>A	(Likely) benign	1 lab	08be421abf
9:126135558 CRB2 C>T	9	126135558	126135558	C	T	CRB2	c.2748C>T	NM_173689.6	NP_775960.4:p.(Ala916=)	NC_000009.11:g.126135558C>T	(Likely) benign	1 lab	08bf31c9c8
20:57876615 EDN3 C>T	20	57876615	57876615	C	T	EDN3	c.203C>T	NM_207032.2	NP_996915.1:p.(Pro68Leu)	NC_000020.10:g.57876615C>T	(Likely) benign	1 lab	08bfc8185e
9:35853684 TMEM8B C>A	9	35853684	35853684	C	A	TMEM8B	c.1266C>A	NM_001042589.2	NP_001036054.1:p.(Gly422=)	NC_000009.11:g.35853684C>A	(Likely) benign	1 lab	08c232f7c1
20:62319730 RTEL1 G>A	20	62319730	62319730	G	A	RTEL1	c.1713G>A	NM_001283009.1	NP_001269938.1:p.(Glu571=)	NC_000020.10:g.62319730G>A	(Likely) benign	1 lab	08c27032ce
13:40253751 COG6 C>T	13	40253751	40253751	C	T	COG6	c.617C>T	NM_001145079.1	NP_001138551.1:p.(Thr206Met)	NC_000013.10:g.40253751C>T	VUS	1 lab	08c271b552
9:289556 DOCK8 C>T	9	289556	289556	C	T	DOCK8	c.379C>T	NM_203447.3	NP_982272.2:p.(Arg127Cys)	NC_000009.11:g.289556C>T	VUS	1 lab	0a0558e174
17:18196150 TOP3A G>A	17	18196150	18196150	G	A	TOP3A	c.805C>T	NM_001320759.1	NP_001307688.1:p.(Arg269Ter)	NC_000017.10:g.18196150G>A	(Likely) pathogenic	1 lab	08c29a7205
X:135080283 SLC9A6 A>T	X	135080283	135080283	A	T	SLC9A6	c.446A>T	NM_006359.3	NP_006350.1:p.(Glu149Val)	NC_000023.10:g.135080283A>T	VUS	1 lab	e0e0337673
5:90261267 ADGRV1 A>G	5	90261267	90261267	A	G	ADGRV1	c.17892A>G	NM_032119.4	NP_115495.3:p.(Gln5964=)	NC_000005.9:g.90261267A>G	(Likely) benign	1 lab	08c4d80ed5
17:29557940 NF1 C>CA	17	29557940	29557942	C	CA	NF1	c.3196dup	NM_000267.3	NP_000258.1:p.(Arg1066LysfsTer23)	NC_000017.10:g.29557942dup	(Likely) pathogenic	1 lab	08c58f5885
17:73738714 ITGB4 G>A	17	73738714	73738714	G	A	ITGB4	c.2834G>A	NM_000213.5	NP_000204.3:p.(Arg945Gln)	NC_000017.10:g.73738714G>A	VUS	1 lab	e0e151e4c0
22:26164520 MYO18B G>A	22	26164520	26164520	G	A	MYO18B	c.637G>A	NM_001318245.1	NP_001305174.1:p.(Ala213Thr)	NC_000022.10:g.26164520G>A	(Likely) benign	1 lab	08c5de4f0c
22:41553171 EP300 AG>A	22	41553171	41553173	AG	A	EP300	c.3262del	NM_001429.4	NP_001420.2:p.(Asp1088IlefsTer6)	NC_000022.10:g.41553173del	(Likely) pathogenic	1 lab	08c7000a5d
21:47542794 COL6A2 C>T	21	47542794	47542794	C	T	COL6A2	c.1614C>T	NM_058175.2	NP_478055.2:p.(Gly538=)	NC_000021.8:g.47542794C>T	(Likely) benign	1 lab	08c7158ec2
10:51978314 ASAH2 A>T	10	51978314	51978314	A	T	ASAH2	c.970T>A	NM_019893.3	NP_063946.2:p.(Tyr324Asn)	NC_000010.10:g.51978314A>T	(Likely) benign	1 lab	08c88e60d8
10:77818505 LRMDA G>T	10	77818505	77818505	G	T	LRMDA	c.396G>T	NM_032024.4	NP_114413.1:p.(Leu132Phe)	NC_000010.10:g.77818505G>T	(Likely) benign	1 lab	08c8ed1548
7:42085093 GLI3 T>C	7	42085093	42085093	T	C	GLI3	c.716A>G	NM_000168.5	NP_000159.3:p.(His239Arg)	NC_000007.13:g.42085093T>C	VUS	1 lab	08c90eff62
16:78466526 WWOX C>G	16	78466526	78466526	C	G	WWOX	c.933C>G	NM_016373.3	NP_057457.1:p.(Leu311=)	NC_000016.9:g.78466526C>G	(Likely) benign	1 lab	08ca083648
22:39627668 PDGFB C>T	22	39627668	39627668	C	T	PDGFB	c.415G>A	NM_002608.3	NP_002599.1:p.(Val139Met)	NC_000022.10:g.39627668C>T	VUS	1 lab	08cdb279da
19:50909559 POLD1 G>A	19	50909559	50909559	G	A	POLD1	c.1363G>A	NM_002691.4	NP_002682.2:p.(Val455Met)	NC_000019.9:g.50909559G>A	VUS	1 lab	e0e2f71dac
4:152637236 GATB C>T	4	152637236	152637236	C	T	GATB	c.688G>A	NM_004564.3	NP_004555.1:p.(Glu230Lys)	NC_000004.11:g.152637236C>T	VUS	1 lab	e0e30c24af
17:58137371 HEATR6 G>C	17	58137371	58137371	G	C	HEATR6	c.1503C>G	NM_022070.4	NP_071353.4:p.(His501Gln)	NC_000017.10:g.58137371G>C	VUS	1 lab	08d23ca0a7
1:120484229 NOTCH2 G>A	1	120484229	120484229	G	A	NOTCH2	c.2901C>T	NM_024408.3	NP_077719.2:p.(Tyr967=)	NC_000001.10:g.120484229G>A	(Likely) benign	1 lab	08d3981494
19:33878967 PEPD C>T	19	33878967	33878967	C	T	PEPD	c.1173G>A	NM_000285.3	NP_000276.2:p.(Glu391=)	NC_000019.9:g.33878967C>T	(Likely) benign	1 lab	08d411bc4f
17:1564106 PRPF8 G>A	17	1564106	1564106	G	A	PRPF8	c.4524C>T	NM_006445.3	NP_006436.3:p.(Gly1508=)	NC_000017.10:g.1564106G>A	(Likely) benign	1 lab	08d730f9ea
9:101558629 ANKS6 G>T	9	101558629	101558629	G	T	ANKS6	c.145C>A	NM_173551.4	NP_775822.3:p.(Pro49Thr)	NC_000009.11:g.101558629G>T	(Likely) benign	1 lab	08d84c0f91
14:105814844 PACS2 C>A	14	105814844	105814844	C	A	PACS2	c.134C>A	NM_001100913.3	NP_001094383.2:p.(Thr45Asn)	NC_000014.8:g.105814844C>A	(Likely) benign	1 lab	e0e6bf0123
5:178413909 GRM6 G>A	5	178413909	178413909	G	A	GRM6	c.1430C>T	NM_000843.4	NP_000834.2:p.(Ala477Val)	NC_000005.9:g.178413909G>A	(Likely) benign	1 lab	08dcea2126
1:153745416 INTS3 C>T	1	153745416	153745416	C	T	INTS3	c.2910C>T	NM_023015.4	NP_075391.3:p.(Phe970=)	NC_000001.10:g.153745416C>T	(Likely) benign	1 lab	08df3d0aa7
7:117227896 CFTR C>G	7	117227896	117227896	C	G	CFTR	c.1679+9C>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117227896C>G	(Likely) benign	1 lab	08e07f0b95
X:104984587 IL1RAPL2 C>A	X	104984587	104984587	C	A	IL1RAPL2	c.951C>A	NM_017416.1	NP_059112.1:p.(Ile317=)	NC_000023.10:g.104984587C>A	(Likely) benign	1 lab	08e1baf067
16:23700942 PLK1 G>A	16	23700942	23700942	G	A	PLK1	c.1553G>A	NM_005030.6	NP_005021.2:p.(Arg518His)	NC_000016.9:g.23700942G>A	VUS	1 lab	e0e984f48b
6:43402544 ABCC10 C>T	6	43402544	43402544	C	T	ABCC10	c.1437C>T	NM_033450.2	NP_258261.2:p.(Phe479=)	NC_000006.11:g.43402544C>T	(Likely) benign	1 lab	08e48c9857
1:196953080 CFHR5 T>TTGTTCCTTAGGAATG	1	196953080	196953103	T	TTGTTCCTTAGGAATG	CFHR5	c.254-2_266dup	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196953089_196953103dup	VUS	1 lab	08e4ee3f9e
17:18023140 MYO15A C>T	17	18023140	18023140	C	T	MYO15A	c.1026C>T	NM_016239.3	NP_057323.3:p.(Tyr342=)	NC_000017.10:g.18023140C>T	(Likely) benign	1 lab	08e5e133cf
22:24376540 GSTT1 C>T	22	24376540	24376540	C	T	GSTT1	c.606G>A	NM_000853.3	NP_000844.2:p.(Val202=)	NC_000022.10:g.24376540C>T	(Likely) benign	1 lab	08e6b43ac3
X:32381075 DMD G>A	X	32381075	32381075	G	A	DMD	c.4786C>T	NM_004010.3	NP_004001.1:p.(Arg1596Cys)	NC_000023.10:g.32381075G>A	VUS	1 lab	08e783882b
2:96967375 SNRNP200 C>T	2	96967375	96967375	C	T	SNRNP200	c.461G>A	NM_014014.4	NP_054733.2:p.(Arg154Gln)	NC_000002.11:g.96967375C>T	(Likely) benign	1 lab	08e9627083
14:23855224 MYH6 G>A	14	23855224	23855224	G	A	MYH6	c.5076C>T	NM_002471.4	NP_002462.2:p.(Ala1692=)	NC_000014.8:g.23855224G>A	(Likely) benign	1 lab	e0e9bc0957
17:29509660 NF1 GT>G	17	29509660	29509662	GT	G	NF1	c.867del	NM_001042492.3	NP_001035957.1:p.(Asp290MetfsTer5)	NC_000017.10:g.29509662del	(Likely) pathogenic	1 lab	08eb4dad09
7:92123942 PEX1 C>T	7	92123942	92123942	C	T	PEX1	c.2161G>A	NM_001282678.1	NP_001269607.1:p.(Ala721Thr)	NC_000007.13:g.92123942C>T	VUS	1 lab	08eb7d1f23
19:42381402 CD79A G>A	19	42381402	42381402	G	A	CD79A	c.28G>A	NM_001783.3	NP_001774.1:p.(Ala10Thr)	NC_000019.9:g.42381402G>A	(Likely) benign	1 lab	08eb9132c9
5:68830566 OCLN T>A	5	68830566	68830566	T	A	OCLN	c.937T>A	NM_002538.3	NP_002529.1:p.(Ser313Thr)	NC_000005.9:g.68830566T>A	VUS	1 lab	08ebccaeb8
20:34025267 GDF5 T>A	20	34025267	34025267	T	A	GDF5	c.442A>T	NM_000557.4	NP_000548.2:p.(Lys148Ter)	NC_000020.10:g.34025267T>A	(Likely) pathogenic	1 lab	08ed37be88
4:113353028 ALPK1 C>T	4	113353028	113353028	C	T	ALPK1	c.2325C>T	NM_025144.4	NP_079420.3:p.(Gly775=)	NC_000004.11:g.113353028C>T	(Likely) benign	1 lab	08efd31345
8:61734103 CHD7 GTA>G	8	61734103	61734113	GTA	G	CHD7	c.2698-237_2698-236del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61734112_61734113del	(Likely) benign	1 lab	08f0016535
X:13621549 EGFL6 T>C	X	13621549	13621549	T	C	EGFL6	c.514T>C	NM_001167890.1	NP_001161362.1:p.(Cys172Arg)	NC_000023.10:g.13621549T>C	VUS	1 lab	08f00e671d
X:57619265 ZXDB C>T	X	57619265	57619265	C	T	ZXDB	c.784C>T	NM_007157.3	NP_009088.1:p.(Leu262=)	NC_000023.10:g.57619265C>T	(Likely) benign	1 lab	08f0c2189d
20:10624483 JAG1 CTCCA>C	20	10624483	10624491	CTCCA	C	JAG1	c.2397_2400del	NM_000214.3	NP_000205.1:p.(Asp799GlufsTer20)	NC_000020.10:g.10624488_10624491del	(Likely) pathogenic	1 lab	08f15cd266
12:49578831 TUBA1A C>T	12	49578831	49578831	C	T	TUBA1A	c.1318G>A	NM_006009.3	NP_006000.2:p.(Val440Ile)	NC_000012.11:g.49578831C>T	(Likely) benign	1 lab	08f2660e8f
19:7695513 PET100 G>A	19	7695513	7695513	G	A	PET100	c.82G>A	NM_001171155.1	NP_001164626.1:p.(Glu28Lys)	NC_000019.9:g.7695513G>A	(Likely) benign	1 lab	08f33cc12d
19:13397506 CACNA1A G>A	19	13397506	13397506	G	A	CACNA1A	c.3376C>T	NM_023035.2	NP_075461.2:p.(Arg1126Cys)	NC_000019.9:g.13397506G>A	VUS	1 lab	08f36ffd3c
3:93722608 ARL13B G>A	3	93722608	93722608	G	A	ARL13B	c.236G>A	NM_001174150.1	NP_001167621.1:p.(Arg79Gln)	NC_000003.11:g.93722608G>A	VUS	1 lab	08f3b3aea9
16:1270649 CACNA1H C>T	16	1270649	1270649	C	T	CACNA1H	c.6717C>T	NM_021098.2	NP_066921.2:p.(Gly2239=)	NC_000016.9:g.1270649C>T	(Likely) benign	1 lab	08f407b610
5:13850750 DNAH5 A>G	5	13850750	13850750	A	G	DNAH5	c.5114+11T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13850750A>G	(Likely) benign	1 lab	08f455f8f6
8:41798918 KAT6A A>G	8	41798918	41798918	A	G	KAT6A	c.2481T>C	NM_006766.4	NP_006757.2:p.(Tyr827=)	NC_000008.10:g.41798918A>G	(Likely) benign	1 lab	08f4e1f9cb
18:43519646 EPG5 C>A	18	43519646	43519646	C	A	EPG5	c.2019G>T	NM_020964.3	NP_066015.2:p.(Gln673His)	NC_000018.9:g.43519646C>A	(Likely) benign	1 lab	08f8973821
3:27763687 EOMES A>T	3	27763687	27763687	A	T	EOMES	c.99T>A	NM_001278182.1	NP_001265111.1:p.(Ala33=)	NC_000003.11:g.27763687A>T	(Likely) benign	1 lab	08f91c60f0
3:186257331 CRYGS T>C	3	186257331	186257331	T	C	CRYGS	c.77A>G	NM_017541.3	NP_060011.1:p.(Asp26Gly)	NC_000003.11:g.186257331T>C	VUS	1 lab	08fa68440b
8:100821671 VPS13B C>T	8	100821671	100821671	C	T	VPS13B	c.8085C>T	NM_017890.4	NP_060360.3:p.(Ala2695=)	NC_000008.10:g.100821671C>T	(Likely) benign	1 lab	08fcb5a026
17:60769755 MRC2 G>A	17	60769755	60769755	G	A	MRC2	c.4383G>A	NM_006039.4	NP_006030.2:p.(Glu1461=)	NC_000017.10:g.60769755G>A	(Likely) benign	1 lab	08fd44d4ad
14:95574091 DICER1 G>A	14	95574091	95574091	G	A	DICER1	c.2658C>T	NM_030621.4	NP_085124.2:p.(Asp886=)	NC_000014.8:g.95574091G>A	(Likely) benign	1 lab	090172389f
19:14584673 PTGER1 C>T	19	14584673	14584673	C	T	PTGER1	c.460G>A	NM_000955.3	NP_000946.2:p.(Ala154Thr)	NC_000019.9:g.14584673C>T	VUS	1 lab	090262c6d7
14:23393860 PRMT5 T>A	14	23393860	23393860	T	A	PRMT5	c.947A>T	NM_001039619.2	NP_001034708.1:p.(Lys316Ile)	NC_000014.8:g.23393860T>A	VUS	1 lab	0905d9b072
19:1007770 GRIN3B C>T	19	1007770	1007770	C	T	GRIN3B	c.2196C>T	NM_138690.2	NP_619635.1:p.(Leu732=)	NC_000019.9:g.1007770C>T	VUS	1 lab	090a5676da
1:197890683 LHX9 C>A	1	197890683	197890683	C	A	LHX9	c.627C>A	NM_020204.3	NP_064589.2:p.(Gly209=)	NC_000001.10:g.197890683C>A	(Likely) benign	1 lab	090a943b35
8:145624597 CPSF1 G>C	8	145624597	145624597	G	C	CPSF1	c.1393-5C>G	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145624597G>C	(Likely) benign	1 lab	090ac023a8
7:6026487 PMS2 G>C	7	6026487	6026487	G	C	PMS2	c.1600C>G	NM_001322015.1	NP_001308944.1:p.(Gln534Glu)	NC_000007.13:g.6026487G>C	VUS	1 lab	090cc1a3d8
9:304574 DOCK8 A>T	9	304574	304574	A	T	DOCK8	c.405-7A>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.304574A>T	(Likely) benign	1 lab	090db7e28c
6:152453270 SYNE1 T>C	6	152453270	152453270	T	C	SYNE1	c.26081A>G	NM_182961.3	NP_892006.3:p.(Asn8694Ser)	NC_000006.11:g.152453270T>C	(Likely) benign	1 lab	090f2c71a2
10:26315441 MYO3A G>A	10	26315441	26315441	G	A	MYO3A	c.933G>A	NM_017433.5	NP_059129.3:p.(Met311Ile)	NC_000010.10:g.26315441G>A	VUS	1 lab	090f34cc25
8:17486234 PDGFRL G>A	8	17486234	17486234	G	A	PDGFRL	c.744G>A	NM_006207.2	NP_006198.1:p.(Ala248=)	NC_000008.10:g.17486234G>A	(Likely) benign	1 lab	0910bbc742
10:12136097 DHTKD1 C>T	10	12136097	12136097	C	T	DHTKD1	c.1185C>T	NM_018706.6	NP_061176.3:p.(Ile395=)	NC_000010.10:g.12136097C>T	(Likely) benign	1 lab	0910c76baf
2:210837935 UNC80 C>T	2	210837935	210837935	C	T	UNC80	c.8330C>T	NM_032504.1	NP_115893.1:p.(Ala2777Val)	NC_000002.11:g.210837935C>T	VUS	1 lab	09138ed7ea
6:111672874 REV3L C>G	6	111672874	111672874	C	G	REV3L	c.7066+5G>C	NM_001286431.1	NP_001273360.1:p.?	NC_000006.11:g.111672874C>G	VUS	1 lab	091431b645
11:61091529 DDB1 G>A	11	61091529	61091529	G	A	DDB1	c.843C>T	NM_001923.4	NP_001914.3:p.(Phe281=)	NC_000011.9:g.61091529G>A	(Likely) benign	1 lab	0914e80f90
22:38379477 SOX10 C>G	22	38379477	38379477	C	G	SOX10	c.315G>C	NM_006941.3	NP_008872.1:p.(Lys105Asn)	NC_000022.10:g.38379477C>G	VUS	1 lab	09178ddb09
16:24135218 PRKCB A>G	16	24135218	24135218	A	G	PRKCB	c.981A>G	NM_002738.6	NP_002729.2:p.(Lys327=)	NC_000016.9:g.24135218A>G	(Likely) benign	1 lab	091df7c44e
1:24496066 IFNLR1 C>T	1	24496066	24496066	C	T	IFNLR1	c.208G>A	NM_170743.4	NP_734464.1:p.(Glu70Lys)	NC_000001.10:g.24496066C>T	(Likely) benign	1 lab	09216031eb
1:876675 SAMD11 C>G	1	876675	876675	C	G	SAMD11	c.858C>G	NM_152486.3	NP_689699.2:p.(Ser286=)	NC_000001.10:g.876675C>G	(Likely) benign	1 lab	0922234848
12:58022915 B4GALNT1 C>T	12	58022915	58022915	C	T	B4GALNT1	c.727G>A	NM_001478.4	NP_001469.1:p.(Glu243Lys)	NC_000012.11:g.58022915C>T	(Likely) benign	1 lab	0922d693b5
X:152823655 ATP2B3 T>C	X	152823655	152823655	T	C	ATP2B3	c.2519T>C	NM_021949.3	NP_068768.2:p.(Met840Thr)	NC_000023.10:g.152823655T>C	VUS	1 lab	092421d6c4
3:38591828 SCN5A C>T	3	38591828	38591828	C	T	SCN5A	c.6035G>A	NM_198056.2	NP_932173.1:p.(Arg2012His)	NC_000003.11:g.38591828C>T	VUS	1 lab	0924e7808b
17:7749914 KDM6B A>G	17	7749914	7749914	A	G	KDM6B	c.567A>G	NM_001080424.2	NP_001073893.1:p.(Gly189=)	NC_000017.10:g.7749914A>G	(Likely) benign	1 lab	09254d3801
X:135432521 ADGRG4 C>G	X	135432521	135432521	C	G	ADGRG4	c.6656C>G	NM_153834.3	NP_722576.3:p.(Thr2219Ser)	NC_000023.10:g.135432521C>G	(Likely) benign	1 lab	092630c523
13:78477314 EDNRB C>A	13	78477314	78477314	C	A	EDNRB	c.1048G>T	NM_001201397.1	NP_001188326.1:p.(Val350Phe)	NC_000013.10:g.78477314C>A	(Likely) benign	1 lab	09264a11af
20:31385114 DNMT3B T>C	20	31385114	31385114	T	C	DNMT3B	c.1490+9T>C	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31385114T>C	(Likely) benign	1 lab	0927a243b8
3:191107320 CCDC50 C>T	3	191107320	191107320	C	T	CCDC50	c.1358C>T	NM_178335.2	NP_848018.1:p.(Ala453Val)	NC_000003.11:g.191107320C>T	VUS	1 lab	092be41b1c
6:7580464 DSP A>G	6	7580464	7580464	A	G	DSP	c.4041A>G	NM_004415.2	NP_004406.2:p.(Glu1347=)	NC_000006.11:g.7580464A>G	(Likely) benign	1 lab	092ce8145b
X:152968411 BCAP31 C>T	X	152968411	152968411	C	T	BCAP31	c.781G>A	NM_001139457.2	NP_001132929.1:p.(Glu261Lys)	NC_000023.10:g.152968411C>T	VUS	1 lab	092d812084
15:44120412 WDR76 A>G	15	44120412	44120412	A	G	WDR76	c.310A>G	NM_024908.4	NP_079184.2:p.(Lys104Glu)	NC_000015.9:g.44120412A>G	(Likely) benign	1 lab	092d812a86
9:136298561 ADAMTS13 C>A	9	136298561	136298561	C	A	ADAMTS13	c.1156C>A	NM_139025.4	NP_620594.1:p.(Arg386Ser)	NC_000009.11:g.136298561C>A	(Likely) benign	1 lab	092d8a069d
3:123359346 MYLK G>A	3	123359346	123359346	G	A	MYLK	c.4625C>T	NM_053025.3	NP_444253.3:p.(Ser1542Leu)	NC_000003.11:g.123359346G>A	VUS	1 lab	092d9135fe
X:85219004 CHM G>A	X	85219004	85219004	G	A	CHM	c.368C>T	NM_000390.2	NP_000381.1:p.(Ala123Val)	NC_000023.10:g.85219004G>A	(Likely) benign	1 lab	092f049a9e
X:140985098 MAGEC3 C>T	X	140985098	140985098	C	T	MAGEC3	c.1554C>T	NM_138702.1	NP_619647.1:p.(Pro518=)	NC_000023.10:g.140985098C>T	(Likely) benign	1 lab	09304b43ce
19:54410134 PRKCG T>C	19	54410134	54410134	T	C	PRKCG	c.2079T>C	NM_002739.3	NP_002730.1:p.(Pro693=)	NC_000019.9:g.54410134T>C	(Likely) benign	1 lab	0930bf9635
7:151877073 KMT2C G>C	7	151877073	151877073	G	C	KMT2C	c.7288C>G	NM_170606.3	NP_733751.2:p.(Gln2430Glu)	NC_000007.13:g.151877073G>C	VUS	1 lab	e0f00f8ac2
1:27056218 ARID1A AG>A	1	27056218	27056221	AG	A	ARID1A	c.1217del	NM_006015.6	NP_006006.3:p.(Gly406AspfsTer27)	NC_000001.10:g.27056221del	(Likely) pathogenic	1 lab	0931483a32
3:38592061 SCN5A G>A	3	38592061	38592061	G	A	SCN5A	c.5802C>T	NM_001099404.1	NP_001092874.1:p.(Ser1934=)	NC_000003.11:g.38592061G>A	(Likely) benign	1 lab	0931d6f9dd
16:2147914 PKD1 G>A	16	2147914	2147914	G	A	PKD1	c.10122C>T	NM_001009944.2	NP_001009944.2:p.(Ser3374=)	NC_000016.9:g.2147914G>A	(Likely) benign	1 lab	0931df0333
11:76914163 MYO7A C>A	11	76914163	76914163	C	A	MYO7A	c.5227C>A	NM_000260.3	NP_000251.3:p.(Arg1743=)	NC_000011.9:g.76914163C>A	(Likely) benign	1 lab	09330905e0
1:47753298 STIL CA>C	1	47753298	47753300	CA	C	STIL	c.1057del	NM_001048166.1	NP_001041631.1:p.(Cys353ValfsTer3)	NC_000001.10:g.47753300del	VUS	1 lab	09347a0150
6:107955858 SOBP C>A	6	107955858	107955858	C	A	SOBP	c.1810C>A	NM_018013.3	NP_060483.3:p.(Gln604Lys)	NC_000006.11:g.107955858C>A	VUS	1 lab	09349b51c8
19:13323320 CACNA1A C>T	19	13323320	13323320	C	T	CACNA1A	c.6085G>A	NM_023035.2	NP_075461.2:p.(Gly2029Ser)	NC_000019.9:g.13323320C>T	VUS	1 lab	093612f8c1
4:126237854 FAT4 C>A	4	126237854	126237854	C	A	FAT4	c.288C>A	NM_001291303.1	NP_001278232.1:p.(Ile96=)	NC_000004.11:g.126237854C>A	(Likely) benign	1 lab	09363a54d0
X:129147801 BCORL1 C>T	X	129147801	129147801	C	T	BCORL1	c.1053C>T	NM_001184772.2	NP_001171701.1:p.(Ala351=)	NC_000023.10:g.129147801C>T	(Likely) benign	1 lab	09378a60c1
5:135388663 TGFBI A>G	5	135388663	135388663	A	G	TGFBI	c.981A>G	NM_000358.3	NP_000349.1:p.(Val327=)	NC_000005.9:g.135388663A>G	(Likely) benign	1 lab	e0f536438e
3:42265114 TRAK1 G>A	3	42265114	42265114	G	A	TRAK1	c.2684G>A	NM_001349246.1	NP_001336175.1:p.(Arg895Gln)	NC_000003.11:g.42265114G>A	VUS	1 lab	0939c36c10
17:29560232 NF1 G>A	17	29560232	29560232	G	A	NF1	c.3708+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29560232G>A	(Likely) pathogenic	1 lab	093e920832
16:1251788 CACNA1H G>A	16	1251788	1251788	G	A	CACNA1H	c.1338G>A	NM_021098.2	NP_066921.2:p.(Thr446=)	NC_000016.9:g.1251788G>A	(Likely) benign	1 lab	093f3e0889
6:108243123 SEC63 AAC>A	6	108243123	108243126	AAC	A	SEC63	c.340-12_340-11del	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243125_108243126del	(Likely) benign	1 lab	e0f717f0dd
8:145001807 PLEC C>T	8	145001807	145001807	C	T	PLEC	c.3938G>A	NM_201380.3	NP_958782.1:p.(Arg1313His)	NC_000008.10:g.145001807C>T	(Likely) benign	1 lab	0941772db5
21:46893914 COL18A1 A>C	21	46893914	46893914	A	C	COL18A1	c.738+19A>C	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46893914A>C	(Likely) benign	1 lab	0941da0d1c
3:126229605 UROC1 G>A	3	126229605	126229605	G	A	UROC1	c.159C>T	NM_001165974.1	NP_001159446.1:p.(Pro53=)	NC_000003.11:g.126229605G>A	(Likely) benign	1 lab	0942494bec
1:220366693 RAB3GAP2 C>T	1	220366693	220366693	C	T	RAB3GAP2	c.1159G>A	NM_012414.3	NP_036546.2:p.(Gly387Ser)	NC_000001.10:g.220366693C>T	VUS	1 lab	09432cde6f
3:187009412 MASP1 G>A	3	187009412	187009412	G	A	MASP1	c.5+4C>T	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.187009412G>A	(Likely) benign	1 lab	094332645e
17:80046083 FASN C>T	17	80046083	80046083	C	T	FASN	c.2694G>A	NM_004104.5	NP_004095.4:p.(Thr898=)	NC_000017.10:g.80046083C>T	(Likely) benign	1 lab	09436a7e07
17:29664516 NF1 A>C	17	29664516	29664516	A	C	NF1	c.6495A>C	NM_000267.3	NP_000258.1:p.(Ser2165=)	NC_000017.10:g.29664516A>C	(Likely) benign	1 lab	0944296be4
13:26978172 CDK8 C>T	13	26978172	26978172	C	T	CDK8	c.1349C>T	NM_001260.3	NP_001251.1:p.(Thr450Ile)	NC_000013.10:g.26978172C>T	VUS	1 lab	e0f7261ac5
10:50666988 ERCC6 T>C	10	50666988	50666988	T	C	ERCC6	c.4355A>G	NM_000124.4	NP_000115.1:p.(Gln1452Arg)	NC_000010.10:g.50666988T>C	VUS	1 lab	e0f7c57dba
9:131396530 DYNC2I2 C>T	9	131396530	131396530	C	T	DYNC2I2	c.1347G>A	NM_052844.3	NP_443076.2:p.(Leu449=)	NC_000009.11:g.131396530C>T	(Likely) benign	1 lab	09478a9f79
2:179606439 TTN C>T	2	179606439	179606439	C	T	TTN	c.11521G>A	NM_001267550.1	NP_001254479.1:p.(Val3841Ile)	NC_000002.11:g.179606439C>T	(Likely) benign	1 lab	0948e43a06
6:119150381 MCM9 A>C	6	119150381	119150381	A	C	MCM9	c.1358T>G	NM_017696.2	NP_060166.2:p.(Ile453Ser)	NC_000006.11:g.119150381A>C	VUS	1 lab	0949803589
X:150912700 CNGA2 G>A	X	150912700	150912700	G	A	CNGA2	c.1725G>A	NM_005140.1	NP_005131.1:p.(Arg575=)	NC_000023.10:g.150912700G>A	(Likely) benign	1 lab	094b0f199b
X:140993604 MAGEC1 T>C	X	140993604	140993604	T	C	MAGEC1	c.414T>C	NM_005462.4	NP_005453.2:p.(Ser138=)	NC_000023.10:g.140993604T>C	(Likely) benign	1 lab	094b75d207
2:179455697 TTN A>G	2	179455697	179455697	A	G	TTN	c.60755T>C	NM_001267550.2	NP_001254479.2:p.(Ile20252Thr)	NC_000002.11:g.179455697A>G	VUS	1 lab	e0f9967ab9
19:38954057 RYR1 C>T	19	38954057	38954057	C	T	RYR1	c.2578-6C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38954057C>T	(Likely) benign	1 lab	094d31404c
7:65435284 GUSB ATAGT>A	7	65435284	65435291	ATAGT	A	GUSB	c.1457_1460del	NM_000181.4	NP_000172.2:p.(Asn486MetfsTer12)	NC_000007.13:g.65435288_65435291del	(Likely) pathogenic	1 lab	094d4306e1
X:149639181 MAMLD1 G>A	X	149639181	149639181	G	A	MAMLD1	c.1336G>A	NM_005491.4	NP_005482.2:p.(Ala446Thr)	NC_000023.10:g.149639181G>A	(Likely) benign	1 lab	094de2cea2
3:10183764 VHL A>G	3	10183764	10183764	A	G	VHL	c.233A>G	NM_000551.3	NP_000542.1:p.(Asn78Ser)	NC_000003.11:g.10183764A>G	(Likely) pathogenic	1 lab	094ee89994
3:129305062 PLXND1 G>A	3	129305062	129305062	G	A	PLXND1	c.1674C>T	NM_015103.2	NP_055918.2:p.(Cys558=)	NC_000003.11:g.129305062G>A	(Likely) benign	1 lab	094f76d29b
8:144998815 PLEC C>T	8	144998815	144998815	C	T	PLEC	c.5693G>A	NM_201380.3	NP_958782.1:p.(Arg1898Gln)	NC_000008.10:g.144998815C>T	VUS	1 lab	094fc3d636
10:27508723 ACBD5 C>T	10	27508723	27508723	C	T	ACBD5	c.548G>A	NM_001271512.3	NP_001258441.1:p.(Ser183Asn)	NC_000010.10:g.27508723C>T	VUS	1 lab	0950680ca7
11:18332420 HPS5 C>T	11	18332420	18332420	C	T	HPS5	c.3G>A	NM_007216.3	NP_009147.3:p.(Met1?)	NC_000011.9:g.18332420C>T	(Likely) benign	1 lab	09507c69ca
7:129330310 NRF1 C>T	7	129330310	129330310	C	T	NRF1	c.530C>T	NM_001293163.1	NP_001280092.1:p.(Ala177Val)	NC_000007.13:g.129330310C>T	(Likely) benign	1 lab	09530d3452
10:127460905 MMP21 A>C	10	127460905	127460905	A	C	MMP21	c.861T>G	NM_147191.1	NP_671724.1:p.(His287Gln)	NC_000010.10:g.127460905A>C	(Likely) pathogenic	1 lab	09542586f6
17:29509596 NF1 G>A	17	29509596	29509596	G	A	NF1	c.801G>A	NM_000267.3	NP_000258.1:p.(Trp267Ter)	NC_000017.10:g.29509596G>A	(Likely) pathogenic	1 lab	0955db1c32
6:137322896 IL20RA G>T	6	137322896	137322896	G	T	IL20RA	c.1461C>A	NM_014432.3	NP_055247.3:p.(Gly487=)	NC_000006.11:g.137322896G>T	(Likely) benign	1 lab	0956325205
22:38525453 PLA2G6 G>C	22	38525453	38525453	G	C	PLA2G6	c.1186+8C>G	NM_003560.2	NP_003551.2:p.?	NC_000022.10:g.38525453G>C	(Likely) benign	1 lab	0956d2da58
15:78894335 CHRNA3 G>A	15	78894335	78894335	G	A	CHRNA3	c.649C>T	NM_000743.5	NP_000734.2:p.(His217Tyr)	NC_000015.9:g.78894335G>A	VUS	1 lab	09575df3b4
2:166187982 SCN2A C>T	2	166187982	166187982	C	T	SCN2A	c.2292C>T	NM_021007.2	NP_066287.2:p.(Ala764=)	NC_000002.11:g.166187982C>T	(Likely) benign	1 lab	09579fd211
11:61914274 INCENP C>T	11	61914274	61914274	C	T	INCENP	c.2104C>T	NM_001040694.2	NP_001035784.1:p.(Arg702Trp)	NC_000011.9:g.61914274C>T	VUS	1 lab	0957b31fdc
20:44806743 CDH22 G>A	20	44806743	44806743	G	A	CDH22	c.1757C>T	NM_021248.2	NP_067071.1:p.(Pro586Leu)	NC_000020.10:g.44806743G>A	VUS	1 lab	0958ef399c
11:76895641 MYO7A G>C	11	76895641	76895641	G	C	MYO7A	c.3384G>C	NM_000260.3	NP_000251.3:p.(Lys1128Asn)	NC_000011.9:g.76895641G>C	(Likely) benign	1 lab	0959c8edfc
19:1619769 TCF3 A>C	19	1619769	1619769	A	C	TCF3	c.1167+10T>G	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619769A>C	(Likely) benign	1 lab	095b745b7b
X:152994833 ABCD1 C>T	X	152994833	152994833	C	T	ABCD1	c.1047C>T	NM_000033.3	NP_000024.2:p.(Val349=)	NC_000023.10:g.152994833C>T	(Likely) benign	1 lab	095c9ab54f
22:33712182 LARGE1 C>T	22	33712182	33712182	C	T	LARGE1	c.1340G>A	NM_133642.4	NP_598397.1:p.(Arg447Gln)	NC_000022.10:g.33712182C>T	VUS	1 lab	095d133fad
19:54385855 PRKCG A>G	19	54385855	54385855	A	G	PRKCG	c.107A>G	NM_002739.5	NP_002730.1:p.(His36Arg)	NC_000019.9:g.54385855A>G	(Likely) pathogenic	1 lab	e0fd4812e2
12:114832687 TBX5 AT>A	12	114832687	114832690	AT	A	TBX5	c.521del	NM_181486.4	NP_852259.1:p.(Asn174IlefsTer13)	NC_000012.11:g.114832690del	(Likely) pathogenic	1 lab	095df758b4
2:26739418 OTOF C>T	2	26739418	26739418	C	T	OTOF	c.377G>A	NM_194248.2	NP_919224.1:p.(Gly126Asp)	NC_000002.11:g.26739418C>T	VUS	1 lab	095ef803df
X:139586515 SOX3 G>GGCGGCC	X	139586515	139586526	G	GGCGGCC	SOX3	c.705_710dup	NM_005634.2	NP_005625.2:p.(Ala247_Ala248dup)	NC_000023.10:g.139586521_139586526dup	(Likely) benign	1 lab	0960027675
6:33132164 COL11A2 G>A	6	33132164	33132164	G	A	COL11A2	c.4950C>T	NM_080680.2	NP_542411.2:p.(Asp1650=)	NC_000006.11:g.33132164G>A	(Likely) benign	1 lab	0960a99821
4:6303625 WFS1 C>T	4	6303625	6303625	C	T	WFS1	c.2103C>T	NM_006005.3	NP_005996.2:p.(Thr701=)	NC_000004.11:g.6303625C>T	(Likely) benign	1 lab	0961828d93
19:14023983 CC2D1A GAA>G	19	14023983	14023985	GAA	G	CC2D1A	c.382_383del	NM_017721.5	NP_060191.3:p.(Lys128AlafsTer2)	NC_000019.9:g.14023984_14023985del	(Likely) pathogenic	1 lab	0962a08952
6:149730710 TAB2 C>T	6	149730710	149730710	C	T	TAB2	c.1940-3C>T	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149730710C>T	(Likely) benign	1 lab	e0fe4f7032
16:70513133 FCSK A>C	16	70513133	70513133	A	C	FCSK	c.2980A>C	NM_145059.3	NP_659496.2:p.(Lys994Gln)	NC_000016.9:g.70513133A>C	VUS	1 lab	e0ff46ca3b
X:49105644 CCDC22 A>G	X	49105644	49105644	A	G	CCDC22	c.1556A>G	NM_014008.4	NP_054727.1:p.(Lys519Arg)	NC_000023.10:g.49105644A>G	(Likely) benign	1 lab	09673693b8
21:47545884 COL6A2 C>T	21	47545884	47545884	C	T	COL6A2	c.2155C>T	NM_058175.2	NP_478055.2:p.(Arg719Trp)	NC_000021.8:g.47545884C>T	VUS	1 lab	0967496c4f
18:43316511 SLC14A1 C>T	18	43316511	43316511	C	T	SLC14A1	c.729C>T	NM_001146037.1	NP_001139509.1:p.(Tyr243=)	NC_000018.9:g.43316511C>T	VUS	1 lab	0967e6d174
8:90967554 NBN T>G	8	90967554	90967554	T	G	NBN	c.1108A>C	NM_001024688.2	NP_001019859.1:p.(Thr370Pro)	NC_000008.10:g.90967554T>G	(Likely) benign	1 lab	0968486b3f
12:120190054 CIT T>TGA	12	120190054	120190058	T	TGA	CIT	c.2707-4_2707-3dup	NM_001206999.1	NP_001193928.1:p.?	NC_000012.11:g.120190057_120190058dup	(Likely) benign	1 lab	0968a49329
21:46888499 COL18A1 C>T	21	46888499	46888499	C	T	COL18A1	c.1695C>T	NM_130444.3	NP_569711.2:p.(Ala565=)	NC_000021.8:g.46888499C>T	(Likely) benign	1 lab	0968db3220
16:21156704 DNAH3 G>A	16	21156704	21156704	G	A	DNAH3	c.246C>T	NM_017539.2	NP_060009.1:p.(Tyr82=)	NC_000016.9:g.21156704G>A	(Likely) benign	1 lab	09690d62c4
1:24186393 FUCA1 G>C	1	24186393	24186393	G	C	FUCA1	c.663C>G	NM_000147.4	NP_000138.2:p.(Ser221Arg)	NC_000001.10:g.24186393G>C	VUS	1 lab	096da98439
1:94520782 ABCA4 G>A	1	94520782	94520782	G	A	ABCA4	c.2472C>T	NM_000350.2	NP_000341.2:p.(Ile824=)	NC_000001.10:g.94520782G>A	(Likely) benign	1 lab	096e1dc802
1:240371046 FMN2 A>G	1	240371046	240371046	A	G	FMN2	c.2934A>G	NM_020066.5	NP_064450.3:p.(Pro978=)	NC_000001.10:g.240371046A>G	(Likely) benign	1 lab	096e6e1526
14:23857557 MYH6 T>G	14	23857557	23857557	T	G	MYH6	c.4176-10A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23857557T>G	(Likely) benign	1 lab	096ec0df3e
3:16926642 PLCL2 A>G	3	16926642	16926642	A	G	PLCL2	c.104=	NM_001144382.2	NP_001137854.1:p.(Gly35=)	NC_000003.11:g.16926642A>G	(Likely) benign	1 lab	09707c1be7
3:38317414 SLC22A13 T>C	3	38317414	38317414	T	C	SLC22A13	c.1064T>C	NM_004256.3	NP_004247.2:p.(Val355Ala)	NC_000003.11:g.38317414T>C	(Likely) benign	1 lab	09728430a5
11:117268036 CEP164 A>G	11	117268036	117268036	A	G	CEP164	c.3501+7A>G	NM_014956.4	NP_055771.4:p.?	NC_000011.9:g.117268036A>G	(Likely) benign	1 lab	09728efb59
14:23900207 MYH7 A>T	14	23900207	23900207	A	T	MYH7	c.798T>A	NM_000257.2	NP_000248.2:p.(Tyr266Ter)	NC_000014.8:g.23900207A>T	(Likely) pathogenic	1 lab	09729800f4
6:7542238 DSP G>A	6	7542238	7542238	G	A	DSP	c.90G>A	NM_004415.2	NP_004406.2:p.(Val30=)	NC_000006.11:g.7542238G>A	(Likely) benign	1 lab	0972a87635
1:147380559 GJA8 C>T	1	147380559	147380559	C	T	GJA8	c.477C>T	NM_005267.4	NP_005258.2:p.(Thr159=)	NC_000001.10:g.147380559C>T	(Likely) benign	1 lab	0972a98ebe
6:76728578 IMPG1 G>A	6	76728578	76728578	G	A	IMPG1	c.667-3C>T	NM_001563.3	NP_001554.2:p.?	NC_000006.11:g.76728578G>A	(Likely) benign	1 lab	09738b792d
X:10085670 WWC3 G>C	X	10085670	10085670	G	C	WWC3	c.1571G>C	NM_015691.3	NP_056506.2:p.(Gly524Ala)	NC_000023.10:g.10085670G>C	(Likely) benign	1 lab	097444191a
1:12337753 VPS13D T>C	1	12337753	12337753	T	C	VPS13D	c.4108T>C	NM_015378.4	NP_056193.2:p.(Leu1370=)	NC_000001.10:g.12337753T>C	(Likely) benign	1 lab	0975b85a43
X:108718910 GUCY2F C>G	X	108718910	108718910	C	G	GUCY2F	c.256G>C	NM_001522.2	NP_001513.2:p.(Asp86His)	NC_000023.10:g.108718910C>G	(Likely) benign	1 lab	0976f59f56
8:124790269 FAM91A1 A>G	8	124790269	124790269	A	G	FAM91A1	c.372A>G	NM_144963.4	NP_659400.3:p.(Leu124=)	NC_000008.10:g.124790269A>G	(Likely) benign	1 lab	09773895d1
15:30906594 GOLGA8H T>C	15	30906594	30906594	T	C	GOLGA8H	c.1729T>C	NM_001282490.1	NP_001269419.1:p.(Cys577Arg)	NC_000015.9:g.30906594T>C	(Likely) benign	1 lab	097756afe1
7:139661838 TBXAS1 TC>T	7	139661838	139661841	TC	T	TBXAS1	c.943del	NM_001061.7	NP_001052.3:p.(Arg315GlyfsTer12)	NC_000007.13:g.139661841del	(Likely) pathogenic	1 lab	0977b88f5f
14:104029420 COA8 C>T	14	104029420	104029420	C	T	COA8	c.121C>T	NM_032374.4	NP_115750.2:p.(Pro41Ser)	NC_000014.8:g.104029420C>T	(Likely) benign	1 lab	097a40b77c
3:39374669 CCR8 C>T	3	39374669	39374669	C	T	CCR8	c.847C>T	NM_005201.3	NP_005192.1:p.(His283Tyr)	NC_000003.11:g.39374669C>T	VUS	1 lab	097c763677
4:103528877 NFKB1 C>T	4	103528877	103528877	C	T	NFKB1	c.2193C>T	NM_001165412.1	NP_001158884.1:p.(Ser731=)	NC_000004.11:g.103528877C>T	(Likely) benign	1 lab	097eb3aa97
14:76452139 IFT43 T>A	14	76452139	76452139	T	A	IFT43	c.10T>A	NM_001255995.1	NP_001242924.1:p.(Leu4Met)	NC_000014.8:g.76452139T>A	(Likely) benign	1 lab	097fc64502
22:32109847 PRR14L T>C	22	32109847	32109847	T	C	PRR14L	c.3978A>G	NM_173566.3	NP_775837.2:p.(Thr1326=)	NC_000022.10:g.32109847T>C	(Likely) benign	1 lab	0980406bdb
15:44888528 SPG11 C>A	15	44888528	44888528	C	A	SPG11	c.4187G>T	NM_025137.3	NP_079413.3:p.(Ser1396Ile)	NC_000015.9:g.44888528C>A	VUS	1 lab	09807044a4
2:73799581 ALMS1 TG>T	2	73799581	73799582	TG	T	ALMS1	c.10578del	NM_001378454.1	NP_001365383.1:p.(Met3526IlefsTer20)	NC_000002.11:g.73799582del	(Likely) pathogenic	1 lab	09817ff8a7
16:2129426 TSC2 C>T	16	2129426	2129426	C	T	TSC2	c.3281C>T	NM_000548.3	NP_000539.2:p.(Ser1094Leu)	NC_000016.9:g.2129426C>T	(Likely) benign	1 lab	09848b6810
8:100133575 VPS13B G>C	8	100133575	100133575	G	C	VPS13B	c.1108G>C	NM_017890.4	NP_060360.3:p.(Asp370His)	NC_000008.10:g.100133575G>C	VUS	1 lab	0984e8563d
5:14381265 TRIO C>T	5	14381265	14381265	C	T	TRIO	c.3474C>T	NM_007118.3	NP_009049.2:p.(Gly1158=)	NC_000005.9:g.14381265C>T	VUS	1 lab	0984ef0a50
X:100808293 ARMCX1 C>T	X	100808293	100808293	C	T	ARMCX1	c.380C>T	NM_016608.1	NP_057692.1:p.(Ala127Val)	NC_000023.10:g.100808293C>T	(Likely) benign	1 lab	09854065e4
6:45405776 RUNX2 C>T	6	45405776	45405776	C	T	RUNX2	c.673C>T	NM_001024630.3	NP_001019801.3:p.(Arg225Trp)	NC_000006.11:g.45405776C>T	(Likely) pathogenic	1 lab	0985615c1e
22:46932798 CELSR1 G>T	22	46932798	46932798	G	T	CELSR1	c.270C>A	NM_014246.1	NP_055061.1:p.(Val90=)	NC_000022.10:g.46932798G>T	(Likely) benign	1 lab	0985657558
1:186418549 PDC C>T	1	186418549	186418549	C	T	PDC	c.43G>A	NM_002597.4	NP_002588.3:p.(Gly15Arg)	NC_000001.10:g.186418549C>T	(Likely) benign	1 lab	0985b1b77c
10:104459228 ARL3 C>T	10	104459228	104459228	C	T	ARL3	c.166G>A	NM_004311.4	NP_004302.1:p.(Val56Ile)	NC_000010.10:g.104459228C>T	VUS	1 lab	0986ef810e
9:123249700 CDK5RAP2 C>G	9	123249700	123249700	C	G	CDK5RAP2	c.1498G>C	NM_018249.5	NP_060719.4:p.(Asp500His)	NC_000009.11:g.123249700C>G	VUS	1 lab	0987d902f9
11:58891682 FAM111B A>G	11	58891682	58891682	A	G	FAM111B	c.112A>G	NM_198947.3	NP_945185.1:p.(Thr38Ala)	NC_000011.9:g.58891682A>G	(Likely) benign	1 lab	098891c481
X:21627596 CNKSR2 C>T	X	21627596	21627596	C	T	CNKSR2	c.2553C>T	NM_014927.4	NP_055742.2:p.(Ser851=)	NC_000023.10:g.21627596C>T	(Likely) benign	1 lab	098b0c1f42
19:42794055 CIC C>T	19	42794055	42794055	C	T	CIC	c.4143C>T	NM_001304815.1	NP_001291744.1:p.(Thr1381=)	NC_000019.9:g.42794055C>T	VUS	1 lab	098c91d662
6:51890542 PKHD1 G>A	6	51890542	51890542	G	A	PKHD1	c.4066C>T	NM_138694.3	NP_619639.3:p.(Leu1356Phe)	NC_000006.11:g.51890542G>A	VUS	1 lab	098ebd694f
3:75790810 ZNF717 G>GT	3	75790810	75790811	G	GT	ZNF717	c.134_135insA	NM_001128223.3	NP_001121695.1:p.(Leu46ProfsTer24)	NC_000003.11:g.75790810_75790811insT	(Likely) benign	1 lab	098f5c904b
5:6611064 NSUN2 T>A	5	6611064	6611064	T	A	NSUN2	c.1226+4A>T	NM_017755.5	NP_060225.4:p.?	NC_000005.9:g.6611064T>A	VUS	1 lab	0fbf604e0c
22:17590193 IL17RA C>T	22	17590193	17590193	C	T	IL17RA	c.2084C>T	NM_014339.6	NP_055154.3:p.(Ala695Val)	NC_000022.10:g.17590193C>T	(Likely) benign	1 lab	098f660e98
X:66931251 AR G>A	X	66931251	66931251	G	A	AR	c.1893G>A	NM_000044.4	NP_000035.2:p.(Lys631=)	NC_000023.10:g.66931251G>A	(Likely) benign	1 lab	098f8503bb
14:23891450 MYH7 T>A	14	23891450	23891450	T	A	MYH7	c.3184A>T	NM_000257.2	NP_000248.2:p.(Thr1062Ser)	NC_000014.8:g.23891450T>A	VUS	1 lab	09906cb21c
20:31386284 DNMT3B C>T	20	31386284	31386284	C	T	DNMT3B	c.1509C>T	NM_006892.3	NP_008823.1:p.(Cys503=)	NC_000020.10:g.31386284C>T	(Likely) benign	1 lab	099189745c
15:40512803 BUB1B G>A	15	40512803	40512803	G	A	BUB1B	c.2996G>A	NM_001211.5	NP_001202.4:p.(Arg999Gln)	NC_000015.9:g.40512803G>A	(Likely) benign	1 lab	0992999150
X:76939671 ATRX C>A	X	76939671	76939671	C	A	ATRX	c.1077G>T	NM_000489.5	NP_000480.3:p.(Leu359=)	NC_000023.10:g.76939671C>A	(Likely) benign	1 lab	099309a4c3
17:43483418 ARHGAP27 T>G	17	43483418	43483418	T	G	ARHGAP27	c.689A>C	NM_001282290.1	NP_001269219.1:p.(Asn230Thr)	NC_000017.10:g.43483418T>G	VUS	1 lab	09937be902
2:109352142 RANBP2 A>G	2	109352142	109352142	A	G	RANBP2	c.560A>G	NM_006267.4	NP_006258.3:p.(His187Arg)	NC_000002.11:g.109352142A>G	VUS	1 lab	0994ea24c6
20:8737719 PLCB1 G>T	20	8737719	8737719	G	T	PLCB1	c.2550G>T	NM_182734.2	NP_877398.1:p.(Glu850Asp)	NC_000020.10:g.8737719G>T	(Likely) benign	1 lab	099539cad2
22:50962699 SCO2 C>T	22	50962699	50962699	C	T	SCO2	c.142G>A	NM_001169109.1	NP_001162580.1:p.(Gly48Arg)	NC_000022.10:g.50962699C>T	VUS	1 lab	0995e314b7
4:79403608 FRAS1 G>A	4	79403608	79403608	G	A	FRAS1	c.8671G>A	NM_025074.7	NP_079350.5:p.(Val2891Ile)	NC_000004.11:g.79403608G>A	VUS	1 lab	0996abf8aa
16:89865598 FANCA G>T	16	89865598	89865598	G	T	FANCA	c.869C>A	NM_001286167.2	NP_001273096.1:p.(Ser290Tyr)	NC_000016.9:g.89865598G>T	VUS	1 lab	09984b29ab
16:2100448 TSC2 GC>G	16	2100448	2100449	GC	G	TSC2	c.187del	NM_000548.5	NP_000539.2:p.(Gln63ArgfsTer43)	NC_000016.9:g.2100449del	(Likely) pathogenic	1 lab	099c4be068
1:196654252 CFH A>G	1	196654252	196654252	A	G	CFH	c.849A>G	NM_000186.3	NP_000177.2:p.(Lys283=)	NC_000001.10:g.196654252A>G	(Likely) benign	1 lab	099c528bd5
X:77913066 RTL3 T>C	X	77913066	77913066	T	C	RTL3	c.852A>G	NM_152694.2	NP_689907.1:p.(Ser284=)	NC_000023.10:g.77913066T>C	(Likely) benign	1 lab	099ce10f0f
18:43523203 EPG5 G>T	18	43523203	43523203	G	T	EPG5	c.1867C>A	NM_020964.3	NP_066015.2:p.(Leu623Ile)	NC_000018.9:g.43523203G>T	(Likely) benign	1 lab	09a010e850
14:75017773 LTBP2 G>A	14	75017773	75017773	G	A	LTBP2	c.1680C>T	NM_000428.2	NP_000419.1:p.(Asn560=)	NC_000014.8:g.75017773G>A	(Likely) benign	1 lab	09a0e5203e
7:6054965 AIMP2 G>T	7	6054965	6054965	G	T	AIMP2	c.90G>T	NM_001326609.1	NP_001313538.1:p.(Leu30Phe)	NC_000007.13:g.6054965G>T	VUS	1 lab	09a4032091
1:216166484 USH2A A>T	1	216166484	216166484	A	T	USH2A	c.6683T>A	NM_206933.2	NP_996816.2:p.(Val2228Glu)	NC_000001.10:g.216166484A>T	VUS	1 lab	09a5ba073b
X:11136693 HCCS C>T	X	11136693	11136693	C	T	HCCS	c.474C>T	NM_005333.5	NP_005324.3:p.(Asn158=)	NC_000023.10:g.11136693C>T	(Likely) benign	1 lab	09a5ef64e2
2:233389045 PRSS56 G>A	2	233389045	233389045	G	A	PRSS56	c.1380G>A	NM_001195129.1	NP_001182058.1:p.(Pro460=)	NC_000002.11:g.233389045G>A	(Likely) benign	1 lab	09a6b1546f
5:13780991 DNAH5 C>T	5	13780991	13780991	C	T	DNAH5	c.8898G>A	NM_001369.2	NP_001360.1:p.(Thr2966=)	NC_000005.9:g.13780991C>T	(Likely) benign	1 lab	09a6dab372
10:99664557 CRTAC1 G>T	10	99664557	99664557	G	T	CRTAC1	c.865C>A	NM_018058.6	NP_060528.3:p.(His289Asn)	NC_000010.10:g.99664557G>T	(Likely) benign	1 lab	09a7a4b133
9:120476906 TLR4 C>A	9	120476906	120476906	C	A	TLR4	c.2380C>A	NM_003266.3	NP_003257.1:p.(Gln794Lys)	NC_000009.11:g.120476906C>A	(Likely) benign	1 lab	09a7c3f5ef
22:30032747 NF2 G>A	22	30032747	30032747	G	A	NF2	c.122G>A	NM_000268.3	NP_000259.1:p.(Trp41Ter)	NC_000022.10:g.30032747G>A	(Likely) pathogenic	1 lab	09a8456076
12:102155435 GNPTAB ATTTTATT>A	12	102155435	102155443	ATTTTATT	A	GNPTAB	c.2815_2821del	NM_024312.5	NP_077288.2:p.(Asn939PhefsTer2)	NC_000012.11:g.102155437_102155443del	(Likely) pathogenic	1 lab	09a8f1fb00
7:100230616 TFR2 A>G	7	100230616	100230616	A	G	TFR2	c.849+8T>C	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100230616A>G	(Likely) benign	1 lab	09ab265265
10:102748203 TWNK G>A	10	102748203	102748203	G	A	TWNK	c.236G>A	NM_001163812.1	NP_001157284.1:p.(Arg79Gln)	NC_000010.10:g.102748203G>A	VUS	1 lab	09ae20ab57
12:108917362 SART3 G>A	12	108917362	108917362	G	A	SART3	c.2764C>T	NM_014706.4	NP_055521.1:p.(Arg922Cys)	NC_000012.11:g.108917362G>A	VUS	1 lab	09ae806e7c
2:87017701 CD8A C>A	2	87017701	87017701	C	A	CD8A	c.153G>T	NM_001145873.1	NP_001139345.1:p.(Thr51=)	NC_000002.11:g.87017701C>A	(Likely) benign	1 lab	e10e303a86
1:231401856 GNPAT A>G	1	231401856	231401856	A	G	GNPAT	c.869A>G	NM_014236.3	NP_055051.1:p.(Glu290Gly)	NC_000001.10:g.231401856A>G	VUS	1 lab	09af03d647
10:73567686 CDH23 T>C	10	73567686	73567686	T	C	CDH23	c.8644T>C	NM_022124.5	NP_071407.4:p.(Phe2882Leu)	NC_000010.10:g.73567686T>C	VUS	1 lab	09b2d50d81
11:47353754 MYBPC3 C>T	11	47353754	47353754	C	T	MYBPC3	c.3683G>A	NM_000256.3	NP_000247.2:p.(Arg1228His)	NC_000011.9:g.47353754C>T	VUS	1 lab	e10ffbadad
10:112344137 SMC3 A>T	10	112344137	112344137	A	T	SMC3	c.1288A>T	NM_005445.4	NP_005436.1:p.(Asn430Tyr)	NC_000010.10:g.112344137A>T	VUS	1 lab	e11123a721
15:65917549 SLC24A1 C>T	15	65917549	65917549	C	T	SLC24A1	c.1131C>T	NM_004727.2	NP_004718.1:p.(Thr377=)	NC_000015.9:g.65917549C>T	(Likely) benign	1 lab	09b4e5d2b4
7:76111983 DTX2 G>A	7	76111983	76111983	G	A	DTX2	c.427G>A	NM_020892.2	NP_065943.2:p.(Val143Met)	NC_000007.13:g.76111983G>A	VUS	1 lab	09b6e34275
12:7047949 ATN1 C>G	12	7047949	7047949	C	G	ATN1	c.2823C>G	NM_001007026.1	NP_001007027.1:p.(Asp941Glu)	NC_000012.11:g.7047949C>G	(Likely) benign	1 lab	09b7935193
18:43502407 EPG5 T>C	18	43502407	43502407	T	C	EPG5	c.2998A>G	NM_020964.3	NP_066015.2:p.(Met1000Val)	NC_000018.9:g.43502407T>C	VUS	1 lab	09b8cbfbaf
17:73749905 ITGB4 T>C	17	73749905	73749905	T	C	ITGB4	c.4168T>C	NM_000213.4	NP_000204.3:p.(Trp1390Arg)	NC_000017.10:g.73749905T>C	VUS	1 lab	09b982db90
8:94808177 TMEM67 C>G	8	94808177	94808177	C	G	TMEM67	c.1822C>G	NM_153704.5	NP_714915.3:p.(Arg608Gly)	NC_000008.10:g.94808177C>G	VUS	1 lab	09ba388a70
17:40639296 ATP6V0A1 A>G	17	40639296	40639296	A	G	ATP6V0A1	c.955A>G	NM_001130020.3	NP_001123492.1:p.(Ile319Val)	NC_000017.10:g.40639296A>G	VUS	1 lab	e1121ea116
1:57349151 C8A C>T	1	57349151	57349151	C	T	C8A	c.655-3C>T	NM_000562.2	NP_000553.1:p.?	NC_000001.10:g.57349151C>T	(Likely) benign	1 lab	09bada3e1d
6:158487633 SYNJ2 C>G	6	158487633	158487633	C	G	SYNJ2	c.1683C>G	NM_003898.3	NP_003889.1:p.(Asp561Glu)	NC_000006.11:g.158487633C>G	VUS	1 lab	09bc76890b
6:394867 IRF4 C>T	6	394867	394867	C	T	IRF4	c.263C>T	NM_002460.3	NP_002451.2:p.(Pro88Leu)	NC_000006.11:g.394867C>T	VUS	1 lab	09bdbf735b
21:46924425 COL18A1 CGG>C	21	46924425	46924427	CGG	C	COL18A1	c.4068_4069insCCCCCCA	NM_130444.3	NP_569711.2:p.(Gly1357ProfsTer144)	NC_000021.8:g.46924426_46924427del	(Likely) pathogenic	1 lab	09c076167d
16:3716031 TRAP1 C>T	16	3716031	3716031	C	T	TRAP1	c.1324G>A	NM_016292.2	NP_057376.2:p.(Glu442Lys)	NC_000016.9:g.3716031C>T	VUS	1 lab	09c0f84d57
16:30978856 SETD1A C>T	16	30978856	30978856	C	T	SETD1A	c.2717C>T	NM_014712.3	NP_055527.1:p.(Ala906Val)	NC_000016.9:g.30978856C>T	VUS	1 lab	e11638ab4a
7:100638158 MUC12 C>T	7	100638158	100638158	C	T	MUC12	c.4314C>T	NM_001164462.1	NP_001157934.1:p.(Thr1438=)	NC_000007.13:g.100638158C>T	(Likely) benign	1 lab	09c21a3e2c
17:42949824 EFTUD2 G>A	17	42949824	42949824	G	A	EFTUD2	c.984C>T	NM_001258353.1	NP_001245282.1:p.(Ala328=)	NC_000017.10:g.42949824G>A	(Likely) benign	1 lab	09c3c31960
6:33752175 LEMD2 C>A	6	33752175	33752175	C	A	LEMD2	c.807G>T	NM_181336.3	NP_851853.1:p.(Leu269Phe)	NC_000006.11:g.33752175C>A	VUS	1 lab	09c4c5c47f
10:5041398 AKR1C2 T>C	10	5041398	5041398	T	C	AKR1C2	c.441A>G	NM_001354.6	NP_001345.1:p.(Thr147=)	NC_000010.10:g.5041398T>C	(Likely) benign	1 lab	e11af66c04
2:204822546 ICOS C>G	2	204822546	204822546	C	G	ICOS	c.526C>G	NM_012092.3	NP_036224.1:p.(Pro176Ala)	NC_000002.11:g.204822546C>G	(Likely) benign	1 lab	09cf90dc69
X:19984587 BCLAF3 A>G	X	19984587	19984587	A	G	BCLAF3	c.222T>C	NM_001367774.1	NP_001354703.1:p.(Tyr74=)	NC_000023.10:g.19984587A>G	(Likely) benign	1 lab	09d238624d
19:17038900 MISSING C>T	19	17038900	17038900	C	T	MISSING				NC_000019.9:g.17038900C>T	VUS	1 lab	09d3658648
X:153599537 FLNA G>A	X	153599537	153599537	G	A	FLNA	c.77C>T	NM_001110556.2	NP_001104026.1:p.(Ala26Val)	NC_000023.10:g.153599537G>A	VUS	1 lab	09d3bac506
9:35853717 TMEM8B C>T	9	35853717	35853717	C	T	TMEM8B	c.1299C>T	NM_001042589.2	NP_001036054.1:p.(His433=)	NC_000009.11:g.35853717C>T	(Likely) benign	1 lab	09d3d88240
9:97912259 FANCC G>C	9	97912259	97912259	G	C	FANCC	c.632C>G	NM_000136.2	NP_000127.2:p.(Pro211Arg)	NC_000009.11:g.97912259G>C	(Likely) benign	1 lab	09d3df024b
5:150947343 FAT2 C>T	5	150947343	150947343	C	T	FAT2	c.1150G>A	NM_001447.2	NP_001438.1:p.(Val384Met)	NC_000005.9:g.150947343C>T	VUS	1 lab	09d64de822
12:14796521 GUCY2C T>C	12	14796521	14796521	T	C	GUCY2C	c.1917A>G	NM_004963.3	NP_004954.2:p.(Leu639=)	NC_000012.11:g.14796521T>C	(Likely) benign	1 lab	0a00ab029e
1:76257179 RABGGTB A>G	1	76257179	76257179	A	G	RABGGTB	c.502A>G	NM_004582.4	NP_004573.2:p.(Ile168Val)	NC_000001.10:g.76257179A>G	(Likely) benign	1 lab	09d73ac4bc
22:40681743 TNRC6B C>T	22	40681743	40681743	C	T	TNRC6B	c.3677C>T	NM_001162501.2	NP_001155973.1:p.(Ala1226Val)	NC_000022.10:g.40681743C>T	VUS	1 lab	e11cc07891
19:57036016 ZNF471 A>G	19	57036016	57036016	A	G	ZNF471	c.580A>G	NM_020813.4	NP_065864.2:p.(Ile194Val)	NC_000019.9:g.57036016A>G	(Likely) benign	1 lab	09d7a182b3
X:12938680 TLR8 T>C	X	12938680	12938680	T	C	TLR8	c.1575T>C	NM_016610.3	NP_057694.2:p.(Ile525=)	NC_000023.10:g.12938680T>C	(Likely) benign	1 lab	09d7f1e5a0
16:2107103 TSC2 C>G	16	2107103	2107103	C	G	TSC2	c.775-3C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2107103C>G	(Likely) pathogenic	1 lab	13d1eeeff0
6:66063393 EYS C>A	6	66063393	66063393	C	A	EYS	c.1417G>T	NM_001142800.1	NP_001136272.1:p.(Gly473Cys)	NC_000006.11:g.66063393C>A	(Likely) benign	1 lab	09dd11d73e
10:73447440 CDH23 G>A	10	73447440	73447440	G	A	CDH23	c.2023G>A	NM_022124.5	NP_071407.4:p.(Ala675Thr)	NC_000010.10:g.73447440G>A	VUS	1 lab	09dd7353d8
13:37427699 SMAD9 C>T	13	37427699	37427699	C	T	SMAD9	c.1117G>A	NM_001127217.2	NP_001120689.1:p.(Val373Ile)	NC_000013.10:g.37427699C>T	VUS	1 lab	09dec51364
1:120459155 NOTCH2 C>A	1	120459155	120459155	C	A	NOTCH2	c.6190G>T	NM_024408.3	NP_077719.2:p.(Glu2064Ter)	NC_000001.10:g.120459155C>A	(Likely) pathogenic	1 lab	09ded67a8a
1:39934334 MACF1 C>T	1	39934334	39934334	C	T	MACF1	c.15624C>T	NM_012090.5	NP_036222.3:p.(Thr5208=)	NC_000001.10:g.39934334C>T	(Likely) benign	1 lab	09e03acc71
X:103359845 ZCCHC18 G>A	X	103359845	103359845	G	A	ZCCHC18	c.1043G>A	NM_001143978.3	NP_001137450.1:p.(Arg348His)	NC_000023.10:g.103359845G>A	(Likely) benign	1 lab	09e40fc852
6:65523464 EYS T>C	6	65523464	65523464	T	C	EYS	c.3250A>G	NM_001142800.1	NP_001136272.1:p.(Thr1084Ala)	NC_000006.11:g.65523464T>C	VUS	1 lab	09e43fd0d1
17:48271320 COL1A1 C>T	17	48271320	48271320	C	T	COL1A1	c.1751G>A	NM_000088.3	NP_000079.2:p.(Gly584Glu)	NC_000017.10:g.48271320C>T	(Likely) pathogenic	1 lab	09e4a3b23a
18:2920372 LPIN2 G>A	18	2920372	2920372	G	A	LPIN2	c.2610C>T	NM_014646.2	NP_055461.1:p.(Ser870=)	NC_000018.9:g.2920372G>A	(Likely) benign	1 lab	09e50a6ec2
15:51742530 DMXL2 G>A	15	51742530	51742530	G	A	DMXL2	c.8700C>T	NM_001174116.1	NP_001167587.1:p.(His2900=)	NC_000015.9:g.51742530G>A	(Likely) benign	1 lab	09e623e062
17:27184948 ERAL1 T>A	17	27184948	27184948	T	A	ERAL1	c.490-9T>A	NM_005702.4	NP_005693.1:p.?	NC_000017.10:g.27184948T>A	(Likely) benign	1 lab	09e7c4e280
13:28626704 FLT3 G>A	13	28626704	28626704	G	A	FLT3	c.592C>T	NM_004119.2	NP_004110.2:p.(Leu198Phe)	NC_000013.10:g.28626704G>A	(Likely) benign	1 lab	09e8424376
X:34149399 FAM47A C>T	X	34149399	34149399	C	T	FAM47A	c.997G>A	NM_203408.3	NP_981953.2:p.(Gly333Arg)	NC_000023.10:g.34149399C>T	VUS	1 lab	09ec665ba0
13:113739390 MCF2L T>G	13	113739390	113739390	T	G	MCF2L	c.2149-10T>G	NM_001320815.1	NP_001307744.1:p.?	NC_000013.10:g.113739390T>G	(Likely) benign	1 lab	09f2c1069a
20:62326205 RTEL1 C>T	20	62326205	62326205	C	T	RTEL1	c.3221C>T	NM_001283009.1	NP_001269938.1:p.(Ala1074Val)	NC_000020.10:g.62326205C>T	(Likely) benign	1 lab	09f2c1d801
7:33407475 BBS9 G>C	7	33407475	33407475	G	C	BBS9	c.1789+1G>C	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33407475G>C	(Likely) pathogenic	1 lab	09f34b8505
6:33148742 COL11A2 G>A	6	33148742	33148742	G	A	COL11A2	c.1220C>T	NM_080680.2	NP_542411.2:p.(Ala407Val)	NC_000006.11:g.33148742G>A	VUS	1 lab	09f357f6e9
10:102753192 TWNK G>A	10	102753192	102753192	G	A	TWNK	c.1980G>A	NM_021830.4	NP_068602.2:p.(Thr660=)	NC_000010.10:g.102753192G>A	(Likely) benign	1 lab	09f3d6f346
1:16260311 SPEN G>A	1	16260311	16260311	G	A	SPEN	c.7576G>A	NM_015001.3	NP_055816.2:p.(Asp2526Asn)	NC_000001.10:g.16260311G>A	VUS	1 lab	e1245b753f
4:985326 SLC26A1 C>T	4	985326	985326	C	T	SLC26A1	c.166G>A	NM_213613.4	NP_998778.1:p.(Ala56Thr)	NC_000004.11:g.985326C>T	(Likely) benign	1 lab	e1260ac446
X:153040483 PLXNB3 C>T	X	153040483	153040483	C	T	PLXNB3	c.4149C>T	NM_001163257.1	NP_001156729.1:p.(Asp1383=)	NC_000023.10:g.153040483C>T	(Likely) benign	1 lab	09f539f172
7:116422084 MET G>A	7	116422084	116422084	G	A	MET	c.3619G>A	NM_001127500.1	NP_001120972.1:p.(Ala1207Thr)	NC_000007.13:g.116422084G>A	VUS	1 lab	09f66b13b9
9:126135887 CRB2 TGGCGCGGCCCCGGCCC>T	9	126135887	126135914	TGGCGCGGCCCCGGCCC	T	CRB2	c.3089_3104del	NM_173689.7	NP_775960.4:p.(Arg1030LeufsTer106)	NC_000009.11:g.126135899_126135914del	VUS	1 lab	09f67aacf7
6:56485224 DST A>G	6	56485224	56485224	A	G	DST	c.3608T>C	NM_001723.5	NP_001714.1:p.(Ile1203Thr)	NC_000006.11:g.56485224A>G	(Likely) benign	1 lab	09f6a1b6cb
5:169535568 FOXI1 G>A	5	169535568	169535568	G	A	FOXI1	c.1090G>A	NM_012188.4	NP_036320.2:p.(Val364Ile)	NC_000005.9:g.169535568G>A	(Likely) benign	1 lab	09f6d9eee1
11:66460527 SPTBN2 C>T	11	66460527	66460527	C	T	SPTBN2	c.4899G>A	NM_006946.3	NP_008877.1:p.(Leu1633=)	NC_000011.9:g.66460527C>T	(Likely) benign	1 lab	09f7a33f68
5:150930166 FAT2 G>A	5	150930166	150930166	G	A	FAT2	c.4563C>T	NM_001447.2	NP_001438.1:p.(His1521=)	NC_000005.9:g.150930166G>A	(Likely) benign	1 lab	09f87b547d
17:62049591 SCN4A G>T	17	62049591	62049591	G	T	SCN4A	c.393-6C>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62049591G>T	(Likely) benign	1 lab	09fb59c183
1:236212215 NID1 T>C	1	236212215	236212215	T	C	NID1	c.300A>G	NM_002508.2	NP_002499.2:p.(Thr100=)	NC_000001.10:g.236212215T>C	(Likely) benign	1 lab	09fbeb52f2
11:121429534 SORL1 T>G	11	121429534	121429534	T	G	SORL1	c.2898T>G	NM_003105.5	NP_003096.1:p.(Ile966Met)	NC_000011.9:g.121429534T>G	VUS	1 lab	09fbf2db9e
1:12393279 VPS13D T>C	1	12393279	12393279	T	C	VPS13D	c.8288-4T>C	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12393279T>C	(Likely) benign	1 lab	09fd1cfe5a
20:57429838 GNAS G>A	20	57429838	57429838	G	A	GNAS	c.1331G>A	NM_001077490.2	NP_001070958.1:p.(Gly444Glu)	NC_000020.10:g.57429838G>A	(Likely) benign	1 lab	09fd3b04ac
2:26689619 OTOF T>A	2	26689619	26689619	T	A	OTOF	c.4463A>T	NM_194248.2	NP_919224.1:p.(Asp1488Val)	NC_000002.11:g.26689619T>A	VUS	1 lab	09fd62ea08
2:27293026 AGBL5 A>G	2	27293026	27293026	A	G	AGBL5	c.2556A>G	NM_021831.5	NP_068603.4:p.(Leu852=)	NC_000002.11:g.27293026A>G	(Likely) benign	1 lab	09fd7f4c87
11:121039471 TECTA T>C	11	121039471	121039471	T	C	TECTA	c.5836T>C	NM_005422.2	NP_005413.2:p.(Tyr1946His)	NC_000011.9:g.121039471T>C	(Likely) benign	1 lab	09fea4895a
9:84547310 SPATA31D4 C>CCA	9	84547310	84547312	C	CCA	SPATA31D4	c.2235_2236insAC	NM_001145197.1	NP_001138669.1:p.(Ala746ThrfsTer50)	NC_000009.11:g.84547311_84547312insAC	VUS	1 lab	09fedf7020
11:22232869 ANO5 C>T	11	22232869	22232869	C	T	ANO5	c.138+9C>T	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22232869C>T	(Likely) benign	1 lab	0a0018b239
7:5662725 RNF216 C>T	7	5662725	5662725	C	T	RNF216	c.2538G>A	NM_207111.3	NP_996994.1:p.(Pro846=)	NC_000007.13:g.5662725C>T	(Likely) benign	1 lab	0a025aa539
X:66765155 AR TGCTGCA>T	X	66765155	66765163	TGCTGCA	T	AR	c.170_175del	NM_000044.6	NP_000035.2:p.(Leu57_Gln58del)	NC_000023.10:g.66765158_66765163del	VUS	1 lab	0a04511bc3
X:54823380 ITIH6 G>A	X	54823380	54823380	G	A	ITIH6	c.252C>T	NM_198510.2	NP_940912.1:p.(Phe84=)	NC_000023.10:g.54823380G>A	(Likely) benign	1 lab	0a05451ea9
16:71212896 HYDIN T>C	16	71212896	71212896	T	C	HYDIN	c.316A>G	NM_001270974.2	NP_001257903.1:p.(Ile106Val)	NC_000016.9:g.71212896T>C	(Likely) benign	1 lab	0a0622768c
16:2124285 TSC2 G>A	16	2124285	2124285	G	A	TSC2	c.2440G>A	NM_000548.3	NP_000539.2:p.(Glu814Lys)	NC_000016.9:g.2124285G>A	(Likely) pathogenic	1 lab	0a09c526d6
3:8578977 LMCD1 A>G	3	8578977	8578977	A	G	LMCD1	c.238A>G	NM_001278235.1	NP_001265164.1:p.(Thr80Ala)	NC_000003.11:g.8578977A>G	VUS	1 lab	0a0b2084f1
7:112115506 IFRD1 T>G	7	112115506	112115506	T	G	IFRD1	c.1288T>G	NM_001007245.2	NP_001007246.1:p.(Phe430Val)	NC_000007.13:g.112115506T>G	VUS	1 lab	0a0cb19dcb
11:2416705 CD81 T>C	11	2416705	2416705	T	C	CD81	c.414T>C	NM_004356.3	NP_004347.1:p.(Asp138=)	NC_000011.9:g.2416705T>C	(Likely) benign	1 lab	0a0e178f37
7:44104567 PGAM2 G>A	7	44104567	44104567	G	A	PGAM2	c.459C>T	NM_000290.3	NP_000281.2:p.(Cys153=)	NC_000007.13:g.44104567G>A	(Likely) benign	1 lab	0a0e292a83
19:54466679 CACNG8 G>A	19	54466679	54466679	G	A	CACNG8	c.283G>A	NM_031895.5	NP_114101.4:p.(Gly95Arg)	NC_000019.9:g.54466679G>A	VUS	1 lab	0a0e357432
21:34038781 SYNJ1 C>T	21	34038781	34038781	C	T	SYNJ1	c.2031G>A	NM_203446.2	NP_982271.2:p.(Leu677=)	NC_000021.8:g.34038781C>T	(Likely) benign	1 lab	0a0fe7a781
X:37061338 FTHL18P C>T	X	37061338	37061338	C	T	FTHL18P	c.424G>A	NM_001271682.1	NP_001258611.1:p.(Ala142Thr)	NC_000023.10:g.37061338C>T	(Likely) benign	1 lab	0a10845098
20:57897450 EDN3 CAG>C	20	57897450	57897453	CAG	C	EDN3	c.568_569del	NM_207034.3	NP_996917.1:p.(Asp190GlnfsTer8)	NC_000020.10:g.57897452_57897453del	VUS	1 lab	0a1189c858
X:114426352 RBMXL3 G>A	X	114426352	114426352	G	A	RBMXL3	c.2348G>A	NM_001145346.1	NP_001138818.1:p.(Arg783Gln)	NC_000023.10:g.114426352G>A	VUS	1 lab	0a13b280b8
5:1280374 TERT G>A	5	1280374	1280374	G	A	TERT	c.1849C>T	NM_198253.2	NP_937983.2:p.(Leu617=)	NC_000005.9:g.1280374G>A	(Likely) benign	1 lab	0a15fda3f6
2:121746528 GLI2 C>G	2	121746528	121746528	C	G	GLI2	c.3038C>G	NM_005270.4	NP_005261.2:p.(Pro1013Arg)	NC_000002.11:g.121746528C>G	(Likely) benign	1 lab	0a1617728d
X:73960171 NEXMIF T>C	X	73960171	73960171	T	C	NEXMIF	c.4221A>G	NM_001008537.2	NP_001008537.1:p.(Ile1407Met)	NC_000023.10:g.73960171T>C	(Likely) benign	1 lab	0a1772e48d
19:15278179 NOTCH3 C>T	19	15278179	15278179	C	T	NOTCH3	c.5243G>A	NM_000435.2	NP_000426.2:p.(Arg1748His)	NC_000019.9:g.15278179C>T	VUS	1 lab	0a19e2dc57
11:2186998 TH G>C	11	2186998	2186998	G	C	TH	c.1198-5C>G	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2186998G>C	(Likely) benign	1 lab	2f0c0d224c
8:102570910 GRHL2 G>A	8	102570910	102570910	G	A	GRHL2	c.548G>A	NM_024915.3	NP_079191.2:p.(Arg183Gln)	NC_000008.10:g.102570910G>A	VUS	1 lab	0a1a357086
1:92946172 GFI1 T>C	1	92946172	92946172	T	C	GFI1	c.772A>G	NM_001127215.2	NP_001120687.1:p.(Ile258Val)	NC_000001.10:g.92946172T>C	VUS	1 lab	0a1b7bb6a6
17:17942806 GID4 G>A	17	17942806	17942806	G	A	GID4	c.28G>A	NM_024052.4	NP_076957.3:p.(Gly10Arg)	NC_000017.10:g.17942806G>A	VUS	1 lab	0a1d5a3fb6
6:10529796 GCNT2 G>A	6	10529796	10529796	G	A	GCNT2	c.652G>A	NM_145649.4	NP_663624.1:p.(Gly218Arg)	NC_000006.11:g.10529796G>A	VUS	1 lab	0a1d9ff825
17:19575224 ALDH3A2 C>T	17	19575224	19575224	C	T	ALDH3A2	c.1398C>T	NM_001031806.1	NP_001026976.1:p.(Leu466=)	NC_000017.10:g.19575224C>T	(Likely) benign	1 lab	0a1e6943e2
3:121713032 ILDR1 G>A	3	121713032	121713032	G	A	ILDR1	c.775C>T	NM_001199799.1	NP_001186728.1:p.(Arg259Ter)	NC_000003.11:g.121713032G>A	(Likely) pathogenic	1 lab	0a1e6b180a
4:980902 IDUA G>GCTGGCGCTC	4	980902	980916	G	GCTGGCGCTC	IDUA	c.36_44dup	NM_000203.5	NP_000194.2:p.(Leu13_Ala15dup)	NC_000004.11:g.980908_980916dup	VUS	1 lab	0a1f6a312e
5:115783505 SEMA6A C>G	5	115783505	115783505	C	G	SEMA6A	c.1948G>C	NM_001300780.1	NP_001287709.1:p.(Val650Leu)	NC_000005.9:g.115783505C>G	VUS	1 lab	0a2012de8a
2:167060449 SCN9A A>T	2	167060449	167060449	A	T	SCN9A	c.4741+16T>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060449A>T	(Likely) benign	1 lab	e13379892c
2:55252368 RTN4 G>A	2	55252368	55252368	G	A	RTN4	c.2867C>T	NM_020532.4	NP_065393.1:p.(Ser956Phe)	NC_000002.11:g.55252368G>A	VUS	1 lab	0a225df7f6
3:119263611 CD80 C>T	3	119263611	119263611	C	T	CD80	c.204G>A	NM_005191.4	NP_005182.1:p.(Lys68=)	NC_000003.11:g.119263611C>T	(Likely) benign	1 lab	0a22e79f14
17:76422680 DNAH17 C>T	17	76422680	76422680	C	T	DNAH17	c.12773G>A	NM_173628.3	NP_775899.3:p.(Gly4258Glu)	NC_000017.10:g.76422680C>T	VUS	1 lab	0a2300f1ff
1:201178708 IGFN1 A>G	1	201178708	201178708	A	G	IGFN1	c.4687A>G	NM_001164586.1	NP_001158058.1:p.(Lys1563Glu)	NC_000001.10:g.201178708A>G	(Likely) benign	1 lab	0a23d1e7f5
19:7623766 PNPLA6 C>T	19	7623766	7623766	C	T	PNPLA6	c.3458C>T	NM_001166111.1	NP_001159583.1:p.(Thr1153Met)	NC_000019.9:g.7623766C>T	VUS	1 lab	0a249e1cd0
2:209007492 CRYGB A>C	2	209007492	209007492	A	C	CRYGB	c.398T>G	NM_005210.3	NP_005201.2:p.(Ile133Ser)	NC_000002.11:g.209007492A>C	VUS	1 lab	0a250646cc
3:195508632 MUC4 T>A	3	195508632	195508632	T	A	MUC4	c.9819A>T	NM_018406.6	NP_060876.5:p.(Ala3273=)	NC_000003.11:g.195508632T>A	(Likely) benign	1 lab	0a26ce0789
2:179515471 TTN C>T	2	179515471	179515471	C	T	TTN	c.39709+7G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179515471C>T	(Likely) benign	1 lab	0a288b6ce3
1:155270043 PKLR A>G	1	155270043	155270043	A	G	PKLR	c.129T>C	NM_000298.6	NP_000289.1:p.(Ser43=)	NC_000001.10:g.155270043A>G	(Likely) benign	1 lab	0a28ecb384
X:102318087 BEX1 T>A	X	102318087	102318087	T	A	BEX1	c.116A>T	NM_018476.4	NP_060946.3:p.(Asp39Val)	NC_000023.10:g.102318087T>A	(Likely) benign	1 lab	0a29f6062b
14:24551743 NRL G>A	14	24551743	24551743	G	A	NRL	c.315C>T	NM_006177.4	NP_006168.1:p.(Val105=)	NC_000014.8:g.24551743G>A	(Likely) benign	1 lab	0a2c3d7697
3:93755576 ARL13B G>GT	3	93755576	93755577	G	GT	ARL13B	c.668dup	NM_001174150.1	NP_001167621.1:p.(Arg224AlafsTer11)	NC_000003.11:g.93755577dup	(Likely) pathogenic	1 lab	0a2f302d03
17:29509579 NF1 C>T	17	29509579	29509579	C	T	NF1	c.784C>T	NM_001042492.2	NP_001035957.1:p.(Arg262Cys)	NC_000017.10:g.29509579C>T	VUS	1 lab	0a2f582266
5:150922699 FAT2 G>C	5	150922699	150922699	G	C	FAT2	c.7989C>G	NM_001447.2	NP_001438.1:p.(Ala2663=)	NC_000005.9:g.150922699G>C	(Likely) benign	1 lab	0a316ffbc3
6:76566890 MYO6 C>G	6	76566890	76566890	C	G	MYO6	c.1300C>G	NM_004999.3	NP_004990.3:p.(His434Asp)	NC_000006.11:g.76566890C>G	VUS	1 lab	0a33ed01c7
21:47571869 FTCD C>T	21	47571869	47571869	C	T	FTCD	c.393G>A	NM_001320412.1	NP_001307341.1:p.(Arg131=)	NC_000021.8:g.47571869C>T	(Likely) benign	1 lab	0a34aca65d
15:48807682 FBN1 C>T	15	48807682	48807682	C	T	FBN1	c.1370G>A	NM_000138.4	NP_000129.3:p.(Arg457His)	NC_000015.9:g.48807682C>T	VUS	1 lab	0a36774a15
17:29585516 NF1 C>T	17	29585516	29585516	C	T	NF1	c.4265C>T	NM_000267.3	NP_000258.1:p.(Ser1422Leu)	NC_000017.10:g.29585516C>T	(Likely) pathogenic	1 lab	0a369d201d
7:100854940 PLOD3 G>A	7	100854940	100854940	G	A	PLOD3	c.1290C>T	NM_001084.4	NP_001075.1:p.(Gly430=)	NC_000007.13:g.100854940G>A	(Likely) benign	1 lab	0a36ac07ed
9:140094935 TPRN C>T	9	140094935	140094935	C	T	TPRN	c.229G>A	NM_001128228.3	NP_001121700.2:p.(Ala77Thr)	NC_000009.11:g.140094935C>T	(Likely) benign	1 lab	0a3702a4af
14:102510398 DYNC1H1 G>C	14	102510398	102510398	G	C	DYNC1H1	c.12684+16G>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102510398G>C	(Likely) benign	1 lab	0a3730783f
9:42410227 ANKRD20A2P G>A	9	42410227	42410227	G	A	ANKRD20A2P	c.2216G>A	NM_001012421.1	NP_001012421.1:p.(Arg739His)	NC_000009.11:g.42410227G>A	(Likely) benign	1 lab	0a3804b891
12:48185058 HDAC7 G>C	12	48185058	48185058	G	C	HDAC7	c.1967C>G	NM_015401.5	NP_056216.2:p.(Pro656Arg)	NC_000012.11:g.48185058G>C	VUS	1 lab	0a38e55760
8:53586706 RB1CC1 A>G	8	53586706	53586706	A	G	RB1CC1	c.701T>C	NM_014781.5	NP_055596.3:p.(Met234Thr)	NC_000008.10:g.53586706A>G	(Likely) benign	1 lab	e1413d2e38
17:7918022 GUCY2D C>T	17	7918022	7918022	C	T	GUCY2D	c.2516C>T	NM_000180.3	NP_000171.1:p.(Thr839Met)	NC_000017.10:g.7918022C>T	VUS	1 lab	0a3bfb2d31
21:47832867 PCNT G>A	21	47832867	47832867	G	A	PCNT	c.6111G>A	NM_006031.5	NP_006022.3:p.(Val2037=)	NC_000021.8:g.47832867G>A	(Likely) benign	1 lab	0a3d81fb3a
12:124829290 NCOR2 C>T	12	124829290	124829290	C	T	NCOR2	c.4567G>A	NM_006312.5	NP_006303.4:p.(Ala1523Thr)	NC_000012.11:g.124829290C>T	(Likely) benign	1 lab	0a3df74f20
X:79947437 BRWD3 G>A	X	79947437	79947437	G	A	BRWD3	c.3366C>T	NM_153252.4	NP_694984.4:p.(Ser1122=)	NC_000023.10:g.79947437G>A	(Likely) benign	1 lab	0a3ffa91e3
17:29684017 NF1 T>G	17	29684017	29684017	T	G	NF1	c.7715T>G	NM_000267.3	NP_000258.1:p.(Leu2572Ter)	NC_000017.10:g.29684017T>G	(Likely) pathogenic	1 lab	0a41920563
8:126095422 WASHC5 T>C	8	126095422	126095422	T	C	WASHC5	c.265A>G	NM_014846.3	NP_055661.3:p.(Ile89Val)	NC_000008.10:g.126095422T>C	VUS	1 lab	0a4625572b
15:90171776 KIF7 C>T	15	90171776	90171776	C	T	KIF7	c.3906G>A	NM_198525.2	NP_940927.2:p.(Leu1302=)	NC_000015.9:g.90171776C>T	(Likely) benign	1 lab	0a48bb916a
21:47857008 PCNT G>A	21	47857008	47857008	G	A	PCNT	c.9099+14G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47857008G>A	(Likely) benign	1 lab	0a4a258a37
3:38674759 SCN5A G>A	3	38674759	38674759	G	A	SCN5A	c.40C>T	NM_001099404.1	NP_001092874.1:p.(Arg14Cys)	NC_000003.11:g.38674759G>A	VUS	1 lab	0a4db18f4d
3:15686795 BTD G>C	3	15686795	15686795	G	C	BTD	c.1432G>C	NM_000060.4	NP_000051.1:p.(Ala478Pro)	NC_000003.11:g.15686795G>C	VUS	1 lab	0a4db88a8f
17:58143718 HEATR6 G>C	17	58143718	58143718	G	C	HEATR6	c.1268C>G	NM_022070.4	NP_071353.4:p.(Ala423Gly)	NC_000017.10:g.58143718G>C	VUS	1 lab	0a4e2aa44e
2:152354176 NEB C>T	2	152354176	152354176	C	T	NEB	c.24369G>A	NM_001271208.1	NP_001258137.1:p.(Met8123Ile)	NC_000002.11:g.152354176C>T	(Likely) benign	1 lab	0a4e2dad91
18:59774122 PIGN T>C	18	59774122	59774122	T	C	PIGN	c.1675-8A>G	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59774122T>C	(Likely) benign	1 lab	0a4fc046c9
X:70147846 SLC7A3 C>T	X	70147846	70147846	C	T	SLC7A3	c.845G>A	NM_032803.5	NP_116192.4:p.(Arg282His)	NC_000023.10:g.70147846C>T	(Likely) benign	1 lab	0a51500c08
X:53223691 KDM5C G>A	X	53223691	53223691	G	A	KDM5C	c.3668C>T	NM_004187.3	NP_004178.2:p.(Pro1223Leu)	NC_000023.10:g.53223691G>A	VUS	1 lab	0a51753e0e
11:70319250 SHANK2 C>T	11	70319250	70319250	C	T	SHANK2	c.3510G>A	NM_133266.3	NP_573573.2:p.(Ala1170=)	NC_000011.9:g.70319250C>T	(Likely) benign	1 lab	0a51e160fa
18:6956646 LAMA1 G>A	18	6956646	6956646	G	A	LAMA1	c.8083C>T	NM_005559.3	NP_005550.2:p.(Arg2695Trp)	NC_000018.9:g.6956646G>A	(Likely) benign	1 lab	0a524f2067
1:11297762 MTOR T>C	1	11297762	11297762	T	C	MTOR	c.2208+138A>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11297762T>C	(Likely) benign	1 lab	0a53ed9026
11:6653630 DCHS1 G>A	11	6653630	6653630	G	A	DCHS1				NC_000011.9:g.6653630G>A	VUS	1 lab	0a54b034f8
8:10468817 RP1L1 C>A	8	10468817	10468817	C	A	RP1L1	c.2791G>T	NM_178857.5	NP_849188.4:p.(Gly931Trp)	NC_000008.10:g.10468817C>A	VUS	1 lab	0a54fc894a
13:103701672 SLC10A2 A>G	13	103701672	103701672	A	G	SLC10A2	c.886T>C	NM_000452.2	NP_000443.1:p.(Phe296Leu)	NC_000013.10:g.103701672A>G	(Likely) benign	1 lab	0a56de2781
15:57543546 TCF12 A>G	15	57543546	57543546	A	G	TCF12	c.1115-2A>G	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57543546A>G	(Likely) pathogenic	1 lab	0a571630de
18:67715191 RTTN C>A	18	67715191	67715191	C	A	RTTN	c.5541+16G>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67715191C>A	(Likely) benign	1 lab	0a57fbe291
14:88411938 GALC G>A	14	88411938	88411938	G	A	GALC	c.1629C>T	NM_000153.3	NP_000144.2:p.(Ala543=)	NC_000014.8:g.88411938G>A	(Likely) benign	1 lab	0a58b6d730
3:195517414 MUC4 G>A	3	195517414	195517414	G	A	MUC4	c.1037C>T	NM_018406.6	NP_060876.5:p.(Pro346Leu)	NC_000003.11:g.195517414G>A	(Likely) benign	1 lab	0a599cb383
17:48273519 COL1A1 G>T	17	48273519	48273519	G	T	COL1A1	c.999C>A	NM_000088.3	NP_000079.2:p.(Pro333=)	NC_000017.10:g.48273519G>T	(Likely) benign	1 lab	0a5a7eabf6
X:64754591 LAS1L G>A	X	64754591	64754591	G	A	LAS1L	c.5C>T	NM_031206.4	NP_112483.1:p.(Ser2Leu)	NC_000023.10:g.64754591G>A	(Likely) benign	1 lab	0a5b2ef89f
16:2122985 TSC2 G>A	16	2122985	2122985	G	A	TSC2	c.2355+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122985G>A	(Likely) pathogenic	1 lab	0a5bf53ebc
2:5833525 SOX11 G>GGACGAC	2	5833525	5833554	G	GGACGAC	SOX11	c.696_701dup	NM_003108.4	NP_003099.1:p.(Asp232_Asp233dup)	NC_000002.11:g.5833549_5833554dup	VUS	1 lab	e142636f71
19:45867139 ERCC2 T>A	19	45867139	45867139	T	A	ERCC2	c.980A>T	NM_000400.3	NP_000391.1:p.(Glu327Val)	NC_000019.9:g.45867139T>A	VUS	1 lab	0a5dbccd08
17:29654770 NF1 AACA>CCACC	17	29654770	29654773	AACA	CCACC	NF1	c.5459_5462delinsCCACC	NM_000267.3	NP_000258.1:p.(Gln1820ProfsTer21)	NC_000017.10:g.29654770_29654773delinsCCACC	(Likely) pathogenic	1 lab	0a5fa00322
19:12763052 MAN2B1 T>C	19	12763052	12763052	T	C	MAN2B1	c.1961A>G	NM_000528.3	NP_000519.2:p.(Asp654Gly)	NC_000019.9:g.12763052T>C	(Likely) benign	1 lab	0a61467893
20:61472055 COL9A3 G>C	20	61472055	61472055	G	C	COL9A3	c.2026G>C	NM_001853.4	NP_001844.3:p.(Gly676Arg)	NC_000020.10:g.61472055G>C	VUS	1 lab	0a618af4cf
15:55652305 CCPG1 T>C	15	55652305	55652305	T	C	CCPG1	c.1666A>G	NM_004748.4	NP_004739.3:p.(Lys556Glu)	NC_000015.9:g.55652305T>C	VUS	1 lab	0a62701267
11:62284223 AHNAK T>A	11	62284223	62284223	T	A	AHNAK	c.17666A>T	NM_001620.2	NP_001611.1:p.(Lys5889Ile)	NC_000011.9:g.62284223T>A	VUS	1 lab	0a665e0981
X:129518885 GPR119 G>A	X	129518885	129518885	G	A	GPR119	c.537C>T	NM_178471.2	NP_848566.1:p.(Leu179=)	NC_000023.10:g.129518885G>A	(Likely) benign	1 lab	0a66b19a5a
9:35074973 FANCG C>T	9	35074973	35074973	C	T	FANCG	c.1587G>A	NM_004629.1	NP_004620.1:p.(Gln529=)	NC_000009.11:g.35074973C>T	(Likely) benign	1 lab	0a672aa18f
X:77388874 TAF9B C>T	X	77388874	77388874	C	T	TAF9B	c.553G>A	NM_015975.4	NP_057059.2:p.(Val185Met)	NC_000023.10:g.77388874C>T	(Likely) benign	1 lab	0a673a8123
1:245775220 KIF26B C>T	1	245775220	245775220	C	T	KIF26B	c.2040C>T	NM_018012.4	NP_060482.2:p.(His680=)	NC_000001.10:g.245775220C>T	(Likely) benign	1 lab	0a6880a977
2:169995786 LRP2 A>G	2	169995786	169995786	A	G	LRP2	c.13363T>C	NM_004525.3	NP_004516.2:p.(Leu4455=)	NC_000002.11:g.169995786A>G	(Likely) benign	1 lab	0a6a58e87f
12:62708667 USP15 A>G	12	62708667	62708667	A	G	USP15	c.445A>G	NM_001252078.2	NP_001239007.1:p.(Thr149Ala)	NC_000012.11:g.62708667A>G	(Likely) benign	1 lab	0a6a920fd7
21:46931088 COL18A1 G>A	21	46931088	46931088	G	A	COL18A1	c.4993G>A	NM_130444.3	NP_569711.2:p.(Gly1665Arg)	NC_000021.8:g.46931088G>A	VUS	1 lab	0a6d08bf5d
2:170031775 LRP2 T>C	2	170031775	170031775	T	C	LRP2	c.10696A>G	NM_004525.3	NP_004516.2:p.(Thr3566Ala)	NC_000002.11:g.170031775T>C	VUS	1 lab	0a6d273b3f
20:42788803 JPH2 G>A	20	42788803	42788803	G	A	JPH2	c.624C>T	NM_020433.4	NP_065166.2:p.(Ala208=)	NC_000020.10:g.42788803G>A	(Likely) benign	1 lab	0a6d7ae573
11:94209550 MRE11 C>T	11	94209550	94209550	C	T	MRE11	c.564G>A	NM_001330347.1	NP_001317276.1:p.(Arg188=)	NC_000011.9:g.94209550C>T	(Likely) benign	1 lab	0a6db0b9bf
5:70786894 BDP1 G>A	5	70786894	70786894	G	A	BDP1	c.1576G>A	NM_018429.2	NP_060899.2:p.(Gly526Ser)	NC_000005.9:g.70786894G>A	(Likely) benign	1 lab	0a735cb8b7
X:153220457 HCFC1 G>A	X	153220457	153220457	G	A	HCFC1	c.3393C>T	NM_005334.2	NP_005325.2:p.(His1131=)	NC_000023.10:g.153220457G>A	(Likely) benign	1 lab	0a73a7a9b4
6:43413630 ABCC10 C>G	6	43413630	43413630	C	G	ABCC10	c.3240C>G	NM_033450.2	NP_258261.2:p.(Ala1080=)	NC_000006.11:g.43413630C>G	(Likely) benign	1 lab	0a7439fa96
2:233612450 GIGYF2 A>G	2	233612450	233612450	A	G	GIGYF2	c.167A>G	NM_015575.3	NP_056390.2:p.(Asn56Ser)	NC_000002.11:g.233612450A>G	(Likely) benign	1 lab	0a771ffcd5
11:4112572 STIM1 C>T	11	4112572	4112572	C	T	STIM1	c.1920C>T	NM_001277961.1	NP_001264890.1:p.(Ala640=)	NC_000011.9:g.4112572C>T	(Likely) benign	1 lab	0a79a4a47b
11:78387298 TENM4 T>G	11	78387298	78387298	T	G	TENM4	c.5395A>C	NM_001098816.2	NP_001092286.2:p.(Asn1799His)	NC_000011.9:g.78387298T>G	VUS	1 lab	0a7a2b118a
17:29652888 NF1 T>C	17	29652888	29652888	T	C	NF1	c.4823T>C	NM_000267.3	NP_000258.1:p.(Leu1608Pro)	NC_000017.10:g.29652888T>C	(Likely) pathogenic	1 lab	0a7b0f8ff5
20:419299 TBC1D20 C>T	20	419299	419299	C	T	TBC1D20	c.1143G>A	NM_144628.3	NP_653229.1:p.(Ala381=)	NC_000020.10:g.419299C>T	(Likely) benign	1 lab	0a7cc7cf9a
7:1524959 INTS1 G>A	7	1524959	1524959	G	A	INTS1	c.3123C>T	NM_001080453.3	NP_001073922.2:p.(Ser1041=)	NC_000007.13:g.1524959G>A	(Likely) benign	1 lab	0a80e274b7
9:139391836 NOTCH1 C>A	9	139391836	139391836	C	A	NOTCH1	c.6355G>T	NM_017617.5	NP_060087.3:p.(Val2119Leu)	NC_000009.11:g.139391836C>A	VUS	1 lab	e14c9b4ae4
8:94828620 TMEM67 T>C	8	94828620	94828620	T	C	TMEM67	c.2928T>C	NM_153704.5	NP_714915.3:p.(Asn976=)	NC_000008.10:g.94828620T>C	(Likely) benign	1 lab	0a84091dce
7:117431493 CTTNBP2 G>A	7	117431493	117431493	G	A	CTTNBP2	c.1757C>T	NM_033427.3	NP_219499.1:p.(Ser586Leu)	NC_000007.13:g.117431493G>A	VUS	1 lab	e14ea7e06b
6:107475977 PDSS2 C>T	6	107475977	107475977	C	T	PDSS2	c.1046G>A	NM_020381.3	NP_065114.3:p.(Arg349Gln)	NC_000006.11:g.107475977C>T	(Likely) benign	1 lab	0a8bfdae6b
10:104357013 SUFU C>T	10	104357013	104357013	C	T	SUFU	c.873C>T	NM_016169.3	NP_057253.2:p.(Ile291=)	NC_000010.10:g.104357013C>T	(Likely) benign	1 lab	0a8bfe6f85
3:130095150 COL6A5 C>A	3	130095150	130095150	C	A	COL6A5	c.138C>A	NM_001278298.1	NP_001265227.1:p.(Phe46Leu)	NC_000003.11:g.130095150C>A	VUS	1 lab	0a8c525d29
13:110833729 COL4A1 G>A	13	110833729	110833729	G	A	COL4A1	c.2103C>T	NM_001845.5	NP_001836.3:p.(Asp701=)	NC_000013.10:g.110833729G>A	(Likely) benign	1 lab	0a8e1e28fc
21:37618249 DOP1B G>A	21	37618249	37618249	G	A	DOP1B	c.3971G>A	NM_001320714.1	NP_001307643.1:p.(Arg1324His)	NC_000021.8:g.37618249G>A	VUS	1 lab	0a8ed690ed
9:94973152 IARS1 G>A	9	94973152	94973152	G	A	IARS1	c.3726C>T	NM_013417.3	NP_038203.2:p.(Pro1242=)	NC_000009.11:g.94973152G>A	(Likely) benign	1 lab	0a8f224f99
X:53296219 IQSEC2 C>T	X	53296219	53296219	C	T	IQSEC2	c.150G>A	NM_001243197.1	NP_001230126.1:p.(Glu50=)	NC_000023.10:g.53296219C>T	(Likely) benign	1 lab	0a8ff7ec30
X:153583247 FLNA G>A	X	153583247	153583247	G	A	FLNA	c.5163C>T	NM_001110556.2	NP_001104026.1:p.(Val1721=)	NC_000023.10:g.153583247G>A	(Likely) benign	1 lab	0a907442f7
18:31320165 ASXL3 C>T	18	31320165	31320165	C	T	ASXL3	c.2797C>T	NM_030632.3	NP_085135.1:p.(Arg933Trp)	NC_000018.9:g.31320165C>T	VUS	1 lab	e152bde9e8
19:4095411 MAP2K2 C>T	19	4095411	4095411	C	T	MAP2K2	c.1021G>A	NM_030662.3	NP_109587.1:p.(Asp341Asn)	NC_000019.9:g.4095411C>T	VUS	1 lab	0a93c99d9f
17:38519336 GJD3 T>TGGCGGC	17	38519336	38519353	T	TGGCGGC	GJD3	c.726_731dup	NM_152219.3	NP_689343.3:p.(Pro247_Pro248dup)	NC_000017.10:g.38519348_38519353dup	(Likely) benign	1 lab	0a94aabd5a
2:122288448 CLASP1 T>C	2	122288448	122288448	T	C	CLASP1	c.196-547A>G	NM_001142273.2	NP_001135745.1:p.?	NC_000002.11:g.122288448T>C	VUS	1 lab	e15471d384
X:47842764 ZNF182 C>T	X	47842764	47842764	C	T	ZNF182	c.120G>A	NM_001178099.1	NP_001171570.1:p.(Glu40=)	NC_000023.10:g.47842764C>T	(Likely) benign	1 lab	0a9558d575
17:56349207 MPO A>G	17	56349207	56349207	A	G	MPO	c.1839T>C	NM_000250.1	NP_000241.1:p.(Thr613=)	NC_000017.10:g.56349207A>G	(Likely) benign	1 lab	0a95ec3c09
1:228547630 OBSCN C>T	1	228547630	228547630	C	T	OBSCN	c.19037C>T	NM_052843.3	NP_443075.3:p.(Pro6346Leu)	NC_000001.10:g.228547630C>T	VUS	1 lab	0a96323f5e
1:216221961 USH2A T>C	1	216221961	216221961	T	C	USH2A	c.6078A>G	NM_206933.2	NP_996816.2:p.(Lys2026=)	NC_000001.10:g.216221961T>C	(Likely) benign	1 lab	0a96acb92d
10:89622145 KLLN G>C	10	89622145	89622145	G	C	KLLN	c.100C>G	NM_001126049.1	NP_001119521.1:p.(Pro34Ala)	NC_000010.10:g.89622145G>C	VUS	1 lab	0a96c010b4
15:55783427 DNAAF4 C>T	15	55783427	55783427	C	T	DNAAF4	c.299G>A	NM_130810.4	NP_570722.2:p.(Arg100Lys)	NC_000015.9:g.55783427C>T	VUS	1 lab	e15484ac12
12:39709755 KIF21A G>T	12	39709755	39709755	G	T	KIF21A	c.3926C>A	NM_001173464.1	NP_001166935.1:p.(Ser1309Tyr)	NC_000012.11:g.39709755G>T	VUS	1 lab	0a9e59361c
X:134983831 SAGE1 G>A	X	134983831	134983831	G	A	SAGE1	c.201G>A	NM_018666.2	NP_061136.2:p.(Ser67=)	NC_000023.10:g.134983831G>A	(Likely) benign	1 lab	0a9e82577e
12:52201153 SCN8A A>G	12	52201153	52201153	A	G	SCN8A	c.5883A>G	NM_001330260.1	NP_001317189.1:p.(Ala1961=)	NC_000012.11:g.52201153A>G	(Likely) benign	1 lab	0a9f5ed4b2
1:162731100 DDR2 T>G	1	162731100	162731100	T	G	DDR2	c.955T>G	NM_001014796.2	NP_001014796.1:p.(Ser319Ala)	NC_000001.10:g.162731100T>G	(Likely) benign	1 lab	0a9fdf7120
16:20948053 DNAH3 A>G	16	20948053	20948053	A	G	DNAH3	c.11639T>C	NM_001347886.1	NP_001334815.1:p.(Met3880Thr)	NC_000016.9:g.20948053A>G	VUS	1 lab	0aa04d2bde
14:74711950 VSX2 A>T	14	74711950	74711950	A	T	VSX2	c.538A>T	NM_182894.2	NP_878314.1:p.(Met180Leu)	NC_000014.8:g.74711950A>T	VUS	1 lab	0aa1ad660f
16:30078907 ALDOA A>G	16	30078907	30078907	A	G	ALDOA	c.411A>G	NM_001243177.1	NP_001230106.1:p.(Thr137=)	NC_000016.9:g.30078907A>G	(Likely) benign	1 lab	0aa3711221
17:6367208 PITPNM3 GAAACC>G	17	6367208	6367213	GAAACC	G	PITPNM3	c.2157-12_2157-8del	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6367209_6367213del	VUS	1 lab	0aa4c46745
X:151131059 GABRE G>T	X	151131059	151131059	G	T	GABRE	c.399C>A	NM_004961.3	NP_004952.2:p.(Tyr133Ter)	NC_000023.10:g.151131059G>T	VUS	1 lab	0aa582979a
2:128364787 MYO7B G>C	2	128364787	128364787	G	C	MYO7B	c.2431G>C	NM_001080527.1	NP_001073996.1:p.(Val811Leu)	NC_000002.11:g.128364787G>C	(Likely) benign	1 lab	0aa67f249a
19:55417993 NCR1 C>T	19	55417993	55417993	C	T	NCR1	c.183C>T	NM_004829.6	NP_004820.2:p.(His61=)	NC_000019.9:g.55417993C>T	(Likely) benign	1 lab	0aa7079003
X:47774701 ZNF81 A>G	X	47774701	47774701	A	G	ZNF81	c.656A>G	NM_007137.3	NP_009068.2:p.(Lys219Arg)	NC_000023.10:g.47774701A>G	VUS	1 lab	0aaab57747
8:37690592 ADGRA2 G>C	8	37690592	37690592	G	C	ADGRA2	c.1162G>C	NM_032777.9	NP_116166.9:p.(Val388Leu)	NC_000008.10:g.37690592G>C	(Likely) benign	1 lab	0aae35baa0
9:138656907 KCNT1 C>T	9	138656907	138656907	C	T	KCNT1	c.1066C>T	NM_020822.2	NP_065873.2:p.(Arg356Trp)	NC_000009.11:g.138656907C>T	(Likely) pathogenic	1 lab	0aae98d3d2
16:69726005 NFAT5 G>A	16	69726005	69726005	G	A	NFAT5	c.1995G>A	NM_138714.3	NP_619728.2:p.(Gln665=)	NC_000016.9:g.69726005G>A	(Likely) benign	1 lab	0aaee48c7d
8:106573696 ZFPM2 A>G	8	106573696	106573696	A	G	ZFPM2	c.407A>G	NM_012082.3	NP_036214.2:p.(Asn136Ser)	NC_000008.10:g.106573696A>G	VUS	1 lab	0aaf615f3d
2:223086092 PAX3 G>A	2	223086092	223086092	G	A	PAX3	c.807C>T	NM_181458.3	NP_852123.1:p.(Asn269=)	NC_000002.11:g.223086092G>A	(Likely) benign	1 lab	0ab0dd831b
16:3778697 CREBBP G>A	16	3778697	3778697	G	A	CREBBP	c.6351C>T	NM_004380.2	NP_004371.2:p.(Pro2117=)	NC_000016.9:g.3778697G>A	(Likely) benign	1 lab	0ab1e28e86
16:89245913 CDH15 G>T	16	89245913	89245913	G	T	CDH15	c.132G>T	NM_004933.2	NP_004924.1:p.(Arg44=)	NC_000016.9:g.89245913G>T	VUS	1 lab	0ab264ee2f
X:32591879 DMD G>A	X	32591879	32591879	G	A	DMD	c.1318C>T	NM_004010.3	NP_004001.1:p.(Arg440Cys)	NC_000023.10:g.32591879G>A	(Likely) benign	1 lab	0ab5265ffa
4:5664935 EVC2 G>T	4	5664935	5664935	G	T	EVC2	c.804C>A	NM_001166136.1	NP_001159608.1:p.(Phe268Leu)	NC_000004.11:g.5664935G>T	VUS	1 lab	0ab5768964
8:28574004 EXTL3 A>C	8	28574004	28574004	A	C	EXTL3	c.428A>C	NM_001440.3	NP_001431.1:p.(Lys143Thr)	NC_000008.10:g.28574004A>C	VUS	1 lab	0ab60b4637
5:131539462 P4HA2 T>C	5	131539462	131539462	T	C	P4HA2				NC_000005.9:g.131539462T>C	(Likely) benign	1 lab	14328257e5
1:236205338 NID1 C>T	1	236205338	236205338	C	T	NID1	c.1007G>A	NM_002508.2	NP_002499.2:p.(Arg336Gln)	NC_000001.10:g.236205338C>T	(Likely) benign	1 lab	0ab8274766
5:82786095 VCAN C>A	5	82786095	82786095	C	A	VCAN	c.249C>A	NM_004385.4	NP_004376.2:p.(Val83=)	NC_000005.9:g.82786095C>A	(Likely) benign	1 lab	0ab88ae63c
1:158592867 SPTA1 C>T	1	158592867	158592867	C	T	SPTA1	c.6026G>A	NM_003126.3	NP_003117.2:p.(Arg2009His)	NC_000001.10:g.158592867C>T	VUS	1 lab	0ab9d573b1
17:29496994 NF1 A>T	17	29496994	29496994	A	T	NF1	c.565A>T	NM_000267.3	NP_000258.1:p.(Lys189Ter)	NC_000017.10:g.29496994A>T	(Likely) pathogenic	1 lab	0abee19f29
2:85892735 SFTPB G>A	2	85892735	85892735	G	A	SFTPB	c.612C>T	NM_198843.2	NP_942140.2:p.(His204=)	NC_000002.11:g.85892735G>A	(Likely) benign	1 lab	0abf3c27b1
3:58127609 FLNB G>A	3	58127609	58127609	G	A	FLNB	c.5227G>A	NM_001164317.1	NP_001157789.1:p.(Val1743Met)	NC_000003.11:g.58127609G>A	(Likely) benign	1 lab	0ac0f36cc6
17:76134715 TMC8 C>T	17	76134715	76134715	C	T	TMC8	c.1725C>T	NM_152468.4	NP_689681.2:p.(Val575=)	NC_000017.10:g.76134715C>T	(Likely) benign	1 lab	0ac123fe53
6:170594062 DLL1 G>A	6	170594062	170594062	G	A	DLL1	c.1194C>T	NM_005618.3	NP_005609.3:p.(Ser398=)	NC_000006.11:g.170594062G>A	(Likely) benign	1 lab	0ac12bcfa7
16:2113056 TSC2 T>G	16	2113056	2113056	T	G	TSC2	c.1443+2T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2113056T>G	(Likely) pathogenic	1 lab	0ac2a6a9cd
2:121743961 GLI2 C>T	2	121743961	121743961	C	T	GLI2	c.2064C>T	NM_005270.4	NP_005261.2:p.(Pro688=)	NC_000002.11:g.121743961C>T	(Likely) benign	1 lab	0ac2fbf15f
1:173799869 DARS2 C>A	1	173799869	173799869	C	A	DARS2	c.366C>A	NM_018122.5	NP_060592.2:p.(Val122=)	NC_000001.10:g.173799869C>A	(Likely) benign	1 lab	0ac4041cc0
21:34037355 SYNJ1 A>G	21	34037355	34037355	A	G	SYNJ1	c.2289T>C	NM_203446.2	NP_982271.2:p.(Tyr763=)	NC_000021.8:g.34037355A>G	(Likely) benign	1 lab	0ac48b493f
8:48694965 PRKDC G>A	8	48694965	48694965	G	A	PRKDC	c.11370C>T	NM_006904.6	NP_008835.5:p.(Thr3790=)	NC_000008.10:g.48694965G>A	(Likely) benign	1 lab	0ac56f7930
X:17744503 NHS T>C	X	17744503	17744503	T	C	NHS	c.2277T>C	NM_001291867.1	NP_001278796.1:p.(Tyr759=)	NC_000023.10:g.17744503T>C	(Likely) benign	1 lab	0ac60830db
6:136913601 MAP3K5 G>C	6	136913601	136913601	G	C	MAP3K5	c.3030C>G	NM_005923.3	NP_005914.1:p.(Val1010=)	NC_000006.11:g.136913601G>C	(Likely) benign	1 lab	0ac676e6ae
15:34393812 EMC7 A>C	15	34393812	34393812	A	C	EMC7	c.229T>G	NM_020154.3	NP_064539.1:p.(Phe77Val)	NC_000015.9:g.34393812A>C	VUS	1 lab	0ac8ebeb79
8:90955624 NBN T>A	8	90955624	90955624	T	A	NBN	c.2071-30A>T	NM_002485.4	NP_002476.2:p.?	NC_000008.10:g.90955624T>A	(Likely) benign	1 lab	0aca9630cf
17:29662038 NF1 A>G	17	29662038	29662038	A	G	NF1	c.5932A>G	NM_000267.3	NP_000258.1:p.(Ser1978Gly)	NC_000017.10:g.29662038A>G	VUS	1 lab	0acb0ab18d
17:62131670 ERN1 C>T	17	62131670	62131670	C	T	ERN1	c.1893G>A	NM_001433.5	NP_001424.3:p.(Thr631=)	NC_000017.10:g.62131670C>T	(Likely) benign	1 lab	0acc06a1a5
5:10254879 CCT5 T>C	5	10254879	10254879	T	C	CCT5	c.146T>C	NM_001306156.1	NP_001293085.1:p.(Ile49Thr)	NC_000005.9:g.10254879T>C	VUS	1 lab	0accd00b68
X:49084774 CACNA1F A>G	X	49084774	49084774	A	G	CACNA1F	c.953T>C	NM_005183.3	NP_005174.2:p.(Phe318Ser)	NC_000023.10:g.49084774A>G	VUS	1 lab	0acd5fa3f8
15:25584272 UBE3A T>C	15	25584272	25584272	T	C	UBE3A	c.*12A>G	NM_130838.4	NP_570853.1:p.?	NC_000015.9:g.25584272T>C	VUS	1 lab	e15ed85e70
1:111147155 KCNA2 T>G	1	111147155	111147155	T	G	KCNA2	c.250A>C	NM_004974.4	NP_004965.1:p.(Ser84Arg)	NC_000001.10:g.111147155T>G	VUS	1 lab	e162483d57
11:78154760 NARS2 A>G	11	78154760	78154760	A	G	NARS2	c.1209T>C	NM_024678.6	NP_078954.4:p.(Phe403=)	NC_000011.9:g.78154760A>G	(Likely) benign	1 lab	0ace29b349
17:41243852 BRCA1 AC>A	17	41243852	41243854	AC	A	BRCA1	c.3695del	NM_007294.4	NP_009225.1:p.(Gly1232ValfsTer3)	NC_000017.10:g.41243854del	(Likely) pathogenic	1 lab	e164da5c74
X:153453422 OPN1MW G>A	X	153453422	153453422	G	A	OPN1MW	c.276G>A	NM_000513.2	NP_000504.1:p.(Leu92=)	NC_000023.10:g.153453422G>A	(Likely) benign	1 lab	0ad15baa2c
8:55539066 RP1 A>T	8	55539066	55539066	A	T	RP1	c.2624A>T	NM_006269.1	NP_006260.1:p.(Asp875Val)	NC_000008.10:g.55539066A>T	VUS	1 lab	0ae38f7ae8
16:2124334 TSC2 T>C	16	2124334	2124334	T	C	TSC2	c.2489T>C	NM_000548.3	NP_000539.2:p.(Leu830Pro)	NC_000016.9:g.2124334T>C	(Likely) pathogenic	1 lab	0ad55e3725
2:73651998 ALMS1 A>G	2	73651998	73651998	A	G	ALMS1	c.1208A>G	NM_015120.4	NP_055935.4:p.(Asp403Gly)	NC_000002.11:g.73651998A>G	VUS	1 lab	0ad7d2dba6
3:123444928 MYLK G>A	3	123444928	123444928	G	A	MYLK	c.1517-3C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123444928G>A	(Likely) benign	1 lab	0ad8ca15f1
4:170477179 NEK1 T>C	4	170477179	170477179	T	C	NEK1	c.1334A>G	NM_001199397.1	NP_001186326.1:p.(His445Arg)	NC_000004.11:g.170477179T>C	VUS	1 lab	0ad8f3f89e
10:13169907 OPTN A>G	10	13169907	13169907	A	G	OPTN	c.1401+4A>G	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13169907A>G	VUS	1 lab	0ad90eed66
6:162683693 PRKN C>T	6	162683693	162683693	C	T	PRKN	c.276G>A	NM_004562.2	NP_004553.2:p.(Ala92=)	NC_000006.11:g.162683693C>T	(Likely) benign	1 lab	0ada7d3e09
21:47572915 FTCD G>T	21	47572915	47572915	G	T	FTCD	c.273C>A	NM_001320412.1	NP_001307341.1:p.(Cys91Ter)	NC_000021.8:g.47572915G>T	VUS	1 lab	0adcdb0448
5:140595292 PCDHB13 G>A	5	140595292	140595292	G	A	PCDHB13	c.1597G>A	NM_018933.3	NP_061756.1:p.(Ala533Thr)	NC_000005.9:g.140595292G>A	VUS	1 lab	0adf0f4d6f
2:26689986 OTOF C>T	2	26689986	26689986	C	T	OTOF	c.4343G>A	NM_194248.2	NP_919224.1:p.(Arg1448His)	NC_000002.11:g.26689986C>T	VUS	1 lab	0ae015495b
18:67871511 RTTN A>G	18	67871511	67871511	A	G	RTTN	c.220-12T>C	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67871511A>G	(Likely) benign	1 lab	0c3a2c90cc
1:196642188 CFH C>A	1	196642188	196642188	C	A	CFH	c.139C>A	NM_000186.3	NP_000177.2:p.(Gln47Lys)	NC_000001.10:g.196642188C>A	(Likely) benign	1 lab	0ae3971188
16:21771818 OTOA T>C	16	21771818	21771818	T	C	OTOA	c.3377T>C	NM_144672.4	NP_653273.3:p.(Leu1126Pro)	NC_000016.9:g.21771818T>C	VUS	1 lab	0ae3fa0399
7:45104140 CCM2 G>C	7	45104140	45104140	G	C	CCM2	c.367G>C	NM_031443.3	NP_113631.1:p.(Ala123Pro)	NC_000007.13:g.45104140G>C	VUS	1 lab	0ae5f8d791
X:105449962 PWWP3B A>T	X	105449962	105449962	A	T	PWWP3B	c.537A>T	NM_152423.4	NP_689636.3:p.(Pro179=)	NC_000023.10:g.105449962A>T	(Likely) benign	1 lab	0ae614f62b
6:99817682 COQ3 G>A	6	99817682	99817682	G	A	COQ3	c.904C>T	NM_017421.4	NP_059117.3:p.(Gln302Ter)	NC_000006.11:g.99817682G>A	VUS	1 lab	0ae906a8d2
6:91269812 MAP3K7 C>G	6	91269812	91269812	C	G	MAP3K7	c.465G>C	NM_145331.3	NP_663304.1:p.(Arg155Ser)	NC_000006.11:g.91269812C>G	(Likely) pathogenic	1 lab	e1693028c4
11:110106908 RDX T>C	11	110106908	110106908	T	C	RDX	c.1260A>G	NM_002906.3	NP_002897.1:p.(Glu420=)	NC_000011.9:g.110106908T>C	(Likely) benign	1 lab	0aea7fafb6
14:51237102 NIN T>G	14	51237102	51237102	T	G	NIN	c.1434+4A>C	NM_020921.3	NP_065972.3:p.?	NC_000014.8:g.51237102T>G	(Likely) benign	1 lab	0aeabf7f68
15:40492521 BUB1B C>T	15	40492521	40492521	C	T	BUB1B	c.1478C>T	NM_001211.5	NP_001202.4:p.(Thr493Ile)	NC_000015.9:g.40492521C>T	(Likely) benign	1 lab	0aec369053
6:90388338 MDN1 A>C	6	90388338	90388338	A	C	MDN1	c.12392T>G	NM_014611.2	NP_055426.1:p.(Phe4131Cys)	NC_000006.11:g.90388338A>C	VUS	1 lab	0aecbfac29
1:248263548 OR2L13 C>T	1	248263548	248263548	C	T	OR2L13	c.871C>T	NM_175911.3	NP_787107.1:p.(Leu291=)	NC_000001.10:g.248263548C>T	(Likely) benign	1 lab	0aecc88019
3:164767643 SI G>C	3	164767643	164767643	G	C	SI	c.1533C>G	NM_001041.3	NP_001032.2:p.(Ser511Arg)	NC_000003.11:g.164767643G>C	VUS	1 lab	0aed281673
9:131346548 SPTAN1 T>G	9	131346548	131346548	T	G	SPTAN1	c.2194-13T>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131346548T>G	(Likely) benign	1 lab	e16963ae63
22:41574494 EP300 A>G	22	41574494	41574494	A	G	EP300	c.6779A>G	NM_001429.3	NP_001420.2:p.(Tyr2260Cys)	NC_000022.10:g.41574494A>G	VUS	1 lab	0af1ec6842
7:92077114 GATAD1 C>T	7	92077114	92077114	C	T	GATAD1	c.71C>T	NM_021167.4	NP_066990.3:p.(Ala24Val)	NC_000007.13:g.92077114C>T	(Likely) benign	1 lab	0af24700dd
4:56502313 NMU A>G	4	56502313	56502313	A	G	NMU	c.47T>C	NM_006681.4	NP_006672.1:p.(Val16Ala)	NC_000004.11:g.56502313A>G	(Likely) benign	1 lab	0af2865acd
17:18057993 MYO15A G>A	17	18057993	18057993	G	A	MYO15A	c.8149-1G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18057993G>A	(Likely) pathogenic	1 lab	0af4306e6b
19:50368452 PNKP T>C	19	50368452	50368452	T	C	PNKP	c.430A>G	NM_007254.3	NP_009185.2:p.(Asn144Asp)	NC_000019.9:g.50368452T>C	(Likely) benign	1 lab	0af7631a41
1:78383695 NEXN A>G	1	78383695	78383695	A	G	NEXN	c.270A>G	NM_144573.3	NP_653174.3:p.(Val90=)	NC_000001.10:g.78383695A>G	(Likely) benign	1 lab	0afb1af3ac
6:160445693 IGF2R C>T	6	160445693	160445693	C	T	IGF2R	c.603C>T	NM_000876.3	NP_000867.2:p.(Ser201=)	NC_000006.11:g.160445693C>T	(Likely) benign	1 lab	0afc8ae975
6:7246834 RREB1 G>A	6	7246834	7246834	G	A	RREB1	c.4151G>A	NM_001003699.4	NP_001003699.1:p.(Arg1384His)	NC_000006.11:g.7246834G>A	(Likely) benign	1 lab	0afcbad871
16:70301691 AARS1 T>C	16	70301691	70301691	T	C	AARS1	c.1093A>G	NM_001605.2	NP_001596.2:p.(Lys365Glu)	NC_000016.9:g.70301691T>C	VUS	1 lab	0afedae7eb
12:40626187 LRRK2 T>C	12	40626187	40626187	T	C	LRRK2	c.347+2T>C	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40626187T>C	(Likely) pathogenic	1 lab	0aff85a1d3
2:220435203 OBSL1 G>A	2	220435203	220435203	G	A	OBSL1	c.752C>T	NM_015311.3	NP_056126.1:p.(Ala251Val)	NC_000002.11:g.220435203G>A	VUS	1 lab	e16ae71f3a
15:93563288 CHD2 C>T	15	93563288	93563288	C	T	CHD2	c.4953C>T	NM_001271.3	NP_001262.3:p.(Gly1651=)	NC_000015.9:g.93563288C>T	(Likely) benign	1 lab	0b00a25a28
10:43601876 RET CA>C	10	43601876	43601877	CA	C	RET	c.921del	NM_020975.6	NP_066124.1:p.(Glu309SerfsTer3)	NC_000010.10:g.43601877del	(Likely) pathogenic	1 lab	0b00a2d39e
18:55226376 FECH C>T	18	55226376	55226376	C	T	FECH				NC_000018.9:g.55226376C>T	(Likely) pathogenic	1 lab	0b02f9571c
15:42164527 SPTBN5 C>T	15	42164527	42164527	C	T	SPTBN5	c.5138G>A	NM_016642.4	NP_057726.4:p.(Arg1713Gln)	NC_000015.9:g.42164527C>T	(Likely) benign	1 lab	0b03289a32
11:6411935 SMPD1 T>TGGC	11	6411935	6411937	T	TGGC	SMPD1	c.108_109insGCG	NM_001318087.1	NP_001305016.1:p.(Val36_Leu37insAla)	NC_000011.9:g.6411936_6411937insGCG	(Likely) benign	1 lab	0b05f12356
16:27639975 KATNIP C>A	16	27639975	27639975	C	A	KATNIP	c.141-7C>A	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27639975C>A	(Likely) benign	1 lab	0b07a3fe5a
14:105404944 AHNAK2 G>A	14	105404944	105404944	G	A	AHNAK2	c.16844C>T	NM_138420.3	NP_612429.2:p.(Pro5615Leu)	NC_000014.8:g.105404944G>A	VUS	1 lab	0b0a02a73b
20:25289132 ABHD12 T>C	20	25289132	25289132	T	C	ABHD12	c.750-2A>G	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25289132T>C	VUS	1 lab	0b0a0bd304
12:49446462 KMT2D G>A	12	49446462	49446462	G	A	KMT2D	c.1143C>T	NM_003482.4	NP_003473.3:p.(Pro381=)	NC_000012.11:g.49446462G>A	(Likely) benign	1 lab	e16cec4dca
5:137902338 HSPA9 A>G	5	137902338	137902338	A	G	HSPA9	c.949T>C	NM_004134.7	NP_004125.3:p.(Cys317Arg)	NC_000005.9:g.137902338A>G	VUS	1 lab	e1717efa26
7:75614218 POR C>T	7	75614218	75614218	C	T	POR	c.1190C>T	NM_000941.2	NP_000932.3:p.(Ser397Leu)	NC_000007.13:g.75614218C>T	VUS	1 lab	0b0ca7e273
3:122842979 PDIA5 G>A	3	122842979	122842979	G	A	PDIA5	c.676G>A	NM_006810.4	NP_006801.1:p.(Gly226Ser)	NC_000003.11:g.122842979G>A	VUS	1 lab	0b0cd97acf
15:101427899 ALDH1A3 G>A	15	101427899	101427899	G	A	ALDH1A3	c.327G>A	NM_000693.3	NP_000684.2:p.(Arg109=)	NC_000015.9:g.101427899G>A	(Likely) benign	1 lab	0b0d665e9d
6:7580492 DSP G>A	6	7580492	7580492	G	A	DSP	c.4069G>A	NM_004415.2	NP_004406.2:p.(Glu1357Lys)	NC_000006.11:g.7580492G>A	VUS	1 lab	0b0ddd14f9
4:169815792 PALLD T>G	4	169815792	169815792	T	G	PALLD	c.2163T>G	NM_001166108.2	NP_001159580.1:p.(Phe721Leu)	NC_000004.11:g.169815792T>G	(Likely) benign	1 lab	0b1046d306
8:87738778 CNGB3 C>T	8	87738778	87738778	C	T	CNGB3	c.319G>A	NM_019098.4	NP_061971.3:p.(Gly107Arg)	NC_000008.10:g.87738778C>T	VUS	1 lab	0b1169bec9
9:35563218 CIMIP2B T>C	9	35563218	35563218	T	C	CIMIP2B	c.231A>G	NM_001164310.3	NP_001157782.1:p.(Leu77=)	NC_000009.11:g.35563218T>C	(Likely) benign	1 lab	0b116e9ad7
12:31249834 DDX11 C>T	12	31249834	31249834	C	T	DDX11	c.1672C>T	NM_030653.3	NP_085911.2:p.(Arg558Ter)	NC_000012.11:g.31249834C>T	(Likely) pathogenic	1 lab	0b12060411
7:47876596 PKD1L1 G>A	7	47876596	47876596	G	A	PKD1L1	c.5866C>T	NM_138295.4	NP_612152.1:p.(Arg1956Cys)	NC_000007.13:g.47876596G>A	VUS	1 lab	0b1461054c
X:153590015 FLNA C>T	X	153590015	153590015	C	T	FLNA	c.2944+23G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153590015C>T	(Likely) benign	1 lab	0b15b6f2f9
4:661663 PDE6B G>A	4	661663	661663	G	A	PDE6B	c.2371G>A	NM_000283.3	NP_000274.2:p.(Glu791Lys)	NC_000004.11:g.661663G>A	(Likely) benign	1 lab	0b16b99d4a
10:64946145 JMJD1C T>TTA	10	64946145	64946149	T	TTA	JMJD1C	c.6571-4_6571-3dup	NM_032776.2	NP_116165.1:p.?	NC_000010.10:g.64946148_64946149dup	(Likely) benign	1 lab	0b172b019b
10:17061834 CUBN TA>T	10	17061834	17061837	TA	T	CUBN	c.4165del	NM_001081.4	NP_001072.2:p.(Tyr1389ThrfsTer74)	NC_000010.10:g.17061837del	(Likely) pathogenic	1 lab	e171e0434f
3:38169335 ACAA1 C>T	3	38169335	38169335	C	T	ACAA1	c.568G>A	NM_001607.3	NP_001598.1:p.(Glu190Lys)	NC_000003.11:g.38169335C>T	(Likely) benign	1 lab	0b18ded98d
12:56031501 OR10P1 A>C	12	56031501	56031501	A	C	OR10P1	c.826A>C	NM_206899.1	NP_996782.1:p.(Ser276Arg)	NC_000012.11:g.56031501A>C	VUS	1 lab	0b1950d966
18:44085966 LOXHD1 C>T	18	44085966	44085966	C	T	LOXHD1	c.5527G>A	NM_144612.6	NP_653213.6:p.(Val1843Met)	NC_000018.9:g.44085966C>T	VUS	1 lab	0b19602659
X:54496490 FGD1 C>T	X	54496490	54496490	C	T	FGD1	c.1060G>A	NM_004463.3	NP_004454.2:p.(Glu354Lys)	NC_000023.10:g.54496490C>T	VUS	1 lab	e1731fcf3c
13:99537283 DOCK9 G>A	13	99537283	99537283	G	A	DOCK9	c.2324C>T	NM_001130048.1	NP_001123520.1:p.(Pro775Leu)	NC_000013.10:g.99537283G>A	VUS	1 lab	0b1a040034
X:78010492 LPAR4 T>C	X	78010492	78010492	T	C	LPAR4	c.126T>C	NM_005296.2	NP_005287.1:p.(Asn42=)	NC_000023.10:g.78010492T>C	(Likely) benign	1 lab	0b1afb0dbc
19:58064064 ZNF550 C>T	19	58064064	58064064	C	T	ZNF550	c.181G>A	NM_001277090.1	NP_001264019.1:p.(Val61Ile)	NC_000019.9:g.58064064C>T	(Likely) benign	1 lab	0b1e4693cf
10:50686503 ERCC6 T>G	10	50686503	50686503	T	G	ERCC6	c.2183A>C	NM_000124.2	NP_000115.1:p.(Tyr728Ser)	NC_000010.10:g.50686503T>G	VUS	1 lab	0b1e7fb89b
17:29559897 NF1 T>C	17	29559897	29559897	T	C	NF1	c.3494T>C	NM_000267.3	NP_000258.1:p.(Ile1165Thr)	NC_000017.10:g.29559897T>C	VUS	1 lab	0b1f43e505
5:82499423 XRCC4 C>T	5	82499423	82499423	C	T	XRCC4	c.535C>T	NM_022550.3	NP_072044.1:p.(Arg179Trp)	NC_000005.9:g.82499423C>T	VUS	1 lab	0b2010a9d4
3:132221149 DNAJC13 C>T	3	132221149	132221149	C	T	DNAJC13	c.4568C>T	NM_001329126.1	NP_001316055.1:p.(Ala1523Val)	NC_000003.11:g.132221149C>T	VUS	1 lab	0b20e14c24
17:74276912 QRICH2 AG>A	17	74276912	74276913	AG	A	QRICH2	c.4385del	NM_001388453.1	NP_001375382.1:p.(Ala1462ValfsTer26)	NC_000017.10:g.74276913del	(Likely) pathogenic	1 lab	0b21f01b79
11:122944456 CLMP C>T	11	122944456	122944456	C	T	CLMP	c.848G>A	NM_024769.3	NP_079045.1:p.(Arg283His)	NC_000011.9:g.122944456C>T	VUS	1 lab	0b23723b10
16:83932762 MLYCD GGGCCAGGCTTGAC>G	16	83932762	83932783	GGGCCAGGCTTGAC	G	MLYCD	c.22_34del	NM_012213.3	NP_036345.2:p.(Leu8ValfsTer61)	NC_000016.9:g.83932771_83932783del	(Likely) pathogenic	1 lab	0b244964f2
17:78086727 GAA C>G	17	78086727	78086727	C	G	GAA	c.1941C>G	NM_000152.3	NP_000143.2:p.(Cys647Trp)	NC_000017.10:g.78086727C>G	(Likely) pathogenic	1 lab	0b254c9027
17:8526489 MYH10 T>C	17	8526489	8526489	T	C	MYH10	c.76A>G	NM_001256012.1	NP_001242941.1:p.(Thr26Ala)	NC_000017.10:g.8526489T>C	VUS	1 lab	0b269d68aa
8:100168781 VPS13B C>T	8	100168781	100168781	C	T	VPS13B	c.2018C>T	NM_017890.4	NP_060360.3:p.(Ser673Leu)	NC_000008.10:g.100168781C>T	VUS	1 lab	0b283f64d9
15:101110112 LINS1 C>T	15	101110112	101110112	C	T	LINS1	c.1605G>A	NM_001040616.2	NP_001035706.1:p.(Trp535Ter)	NC_000015.9:g.101110112C>T	(Likely) pathogenic	1 lab	0b28eebbde
10:50713929 ERCC6 C>A	10	50713929	50713929	C	A	ERCC6	c.1526+1G>T	NM_001346440.1	NP_001333369.1:p.?	NC_000010.10:g.50713929C>A	(Likely) pathogenic	1 lab	0b29ab4a13
2:55920837 PNPT1 C>G	2	55920837	55920837	C	G	PNPT1	c.122G>C	NM_033109.4	NP_149100.2:p.(Ser41Thr)	NC_000002.11:g.55920837C>G	(Likely) benign	1 lab	0b2a1695d6
X:114242571 IL13RA2 T>G	X	114242571	114242571	T	G	IL13RA2	c.921A>C	NM_000640.2	NP_000631.1:p.(Val307=)	NC_000023.10:g.114242571T>G	(Likely) benign	1 lab	0b2a68319f
5:78416210 BHMT G>A	5	78416210	78416210	G	A	BHMT	c.323G>A	NM_001713.2	NP_001704.2:p.(Arg108Gln)	NC_000005.9:g.78416210G>A	VUS	1 lab	0b2e3d2cf6
7:147914366 CNTNAP2 C>T	7	147914366	147914366	C	T	CNTNAP2	c.3011-14C>T	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147914366C>T	(Likely) benign	1 lab	0b309bddab
1:9784870 PIK3CD G>A	1	9784870	9784870	G	A	PIK3CD	c.2873G>A	NM_005026.3	NP_005017.3:p.(Gly958Asp)	NC_000001.10:g.9784870G>A	(Likely) benign	1 lab	0b314199e0
20:32379318 ZNF341 G>A	20	32379318	32379318	G	A	ZNF341	c.2560G>A	NM_001282933.1	NP_001269862.1:p.(Glu854Lys)	NC_000020.10:g.32379318G>A	VUS	1 lab	0b3296480c
3:15686464 BTD C>T	3	15686464	15686464	C	T	BTD	c.1101C>T	NM_000060.4	NP_000051.1:p.(Gly367=)	NC_000003.11:g.15686464C>T	(Likely) benign	1 lab	0b339f35fb
7:82784106 PCLO G>A	7	82784106	82784106	G	A	PCLO	c.1851C>T	NM_033026.5	NP_149015.2:p.(Val617=)	NC_000007.13:g.82784106G>A	(Likely) benign	1 lab	0b347e8399
2:179395959 TTN G>C	2	179395959	179395959	G	C	TTN	c.105383C>G	NM_001267550.1	NP_001254479.1:p.(Ala35128Gly)	NC_000002.11:g.179395959G>C	VUS	1 lab	0b34ee6c7e
5:90002207 ADGRV1 T>C	5	90002207	90002207	T	C	ADGRV1	c.8726T>C	NM_032119.4	NP_115495.3:p.(Leu2909Pro)	NC_000005.9:g.90002207T>C	VUS	1 lab	e17e377eff
10:62038839 ANK3 T>C	10	62038839	62038839	T	C	ANK3	c.284A>G	NM_020987.5	NP_066267.2:p.(Gln95Arg)	NC_000010.10:g.62038839T>C	(Likely) benign	1 lab	0b3706bb3f
5:171766706 SH3PXD2B C>T	5	171766706	171766706	C	T	SH3PXD2B	c.1403G>A	NM_001017995.2	NP_001017995.1:p.(Arg468Gln)	NC_000005.9:g.171766706C>T	VUS	1 lab	0b373f11bb
6:32411035 HLA-DRA A>C	6	32411035	32411035	A	C	HLA-DRA	c.402A>C	NM_019111.5	NP_061984.2:p.(Ile134=)	NC_000006.11:g.32411035A>C	(Likely) benign	1 lab	e17e66df0f
X:100653459 GLA G>A	X	100653459	100653459	G	A	GLA	c.898C>T	NM_000169.2	NP_000160.1:p.(Leu300Phe)	NC_000023.10:g.100653459G>A	(Likely) pathogenic	1 lab	0b38c12033
12:19436599 PLEKHA5 A>G	12	19436599	19436599	A	G	PLEKHA5	c.1681A>G	NM_001143821.2	NP_001137293.2:p.(Thr561Ala)	NC_000012.11:g.19436599A>G	(Likely) benign	1 lab	0b38cba328
X:32381027 DMD G>A	X	32381027	32381027	G	A	DMD	c.4834C>T	NM_004010.3	NP_004001.1:p.(Arg1612Cys)	NC_000023.10:g.32381027G>A	(Likely) benign	1 lab	0b3a00e884
10:73544668 CDH23 G>A	10	73544668	73544668	G	A	CDH23	c.5523G>A	NM_022124.5	NP_071407.4:p.(Val1841=)	NC_000010.10:g.73544668G>A	(Likely) benign	1 lab	0b3d1cc944
6:31928199 SKIC2 C>T	6	31928199	31928199	C	T	SKIC2	c.355-10C>T	NM_006929.4	NP_008860.4:p.?	NC_000006.11:g.31928199C>T	(Likely) benign	1 lab	0b3d5f54a5
2:169985308 LRP2 C>T	2	169985308	169985308	C	T	LRP2	c.13833G>A	NM_004525.3	NP_004516.2:p.(Ala4611=)	NC_000002.11:g.169985308C>T	(Likely) benign	1 lab	0b3e95a82a
19:39735525 IFNL3 C>T	19	39735525	39735525	C	T	IFNL3	c.83G>A	NM_172139.3	NP_742151.2:p.(Arg28His)	NC_000019.9:g.39735525C>T	(Likely) benign	1 lab	0b3f7c71c1
17:78184550 SGSH CGTA>C	17	78184550	78184554	CGTA	C	SGSH	c.1207_1209del	NM_000199.5	NP_000190.1:p.(Tyr403del)	NC_000017.10:g.78184552_78184554del	(Likely) pathogenic	1 lab	0b3fee179e
4:79334179 FRAS1 G>A	4	79334179	79334179	G	A	FRAS1	c.4365G>A	NM_025074.7	NP_079350.5:p.(Ala1455=)	NC_000004.11:g.79334179G>A	(Likely) benign	1 lab	0b41804990
9:96030968 WNK2 G>A	9	96030968	96030968	G	A	WNK2	c.3973G>A	NM_001282394.1	NP_001269323.1:p.(Glu1325Lys)	NC_000009.11:g.96030968G>A	(Likely) benign	1 lab	0b44b882f0
4:967183 DGKQ C>T	4	967183	967183	C	T	DGKQ	c.88G>A	NM_001347.4	NP_001338.2:p.(Gly30Ser)	NC_000004.11:g.967183C>T	VUS	1 lab	0c92a86b01
1:57417782 C8B G>A	1	57417782	57417782	G	A	C8B	c.449C>T	NM_001278543.1	NP_001265472.1:p.(Pro150Leu)	NC_000001.10:g.57417782G>A	VUS	1 lab	0b46260b39
5:14471470 TRIO A>T	5	14471470	14471470	A	T	TRIO	c.5807A>T	NM_007118.3	NP_009049.2:p.(Asp1936Val)	NC_000005.9:g.14471470A>T	VUS	1 lab	0b46e562ad
6:10529266 GCNT2 A>G	6	10529266	10529266	A	G	GCNT2	c.122A>G	NM_145649.4	NP_663624.1:p.(Asn41Ser)	NC_000006.11:g.10529266A>G	VUS	1 lab	0b6225a3f2
12:80746083 OTOGL G>A	12	80746083	80746083	G	A	OTOGL	c.5247G>A	NM_173591.3	NP_775862.3:p.(Pro1749=)	NC_000012.11:g.80746083G>A	(Likely) benign	1 lab	0b47d4289f
X:111003038 ALG13 G>A	X	111003038	111003038	G	A	ALG13	c.2991G>A	NM_001257231.1	NP_001244160.1:p.(Gly997=)	NC_000023.10:g.111003038G>A	(Likely) benign	1 lab	0b4a33a56d
16:2120543 TSC2 C>CT	16	2120543	2120544	C	CT	TSC2	c.1804dup	NM_000548.3	NP_000539.2:p.(Tyr602LeufsTer15)	NC_000016.9:g.2120544dup	(Likely) pathogenic	1 lab	0b4aeb34ec
1:161772054 ATF6 G>A	1	161772054	161772054	G	A	ATF6	c.901G>A	NM_007348.3	NP_031374.2:p.(Gly301Ser)	NC_000001.10:g.161772054G>A	VUS	1 lab	0b4cce4ea8
16:89351106 ANKRD11 G>C	16	89351106	89351106	G	C	ANKRD11	c.1844C>G	NM_001256182.1	NP_001243111.1:p.(Ala615Gly)	NC_000016.9:g.89351106G>C	(Likely) benign	1 lab	0b4cef09f7
5:1414894 SLC6A3 C>T	5	1414894	1414894	C	T	SLC6A3	c.1068G>A	NM_001044.4	NP_001035.1:p.(Thr356=)	NC_000005.9:g.1414894C>T	(Likely) benign	1 lab	0b4f6bc464
20:48129653 PTGIS GC>G	20	48129653	48129654	GC	G	PTGIS	c.1169del	NM_000961.4	NP_000952.1:p.(Ser390ThrfsTer21)	NC_000020.10:g.48129654del	(Likely) pathogenic	1 lab	0b4fecaf5f
16:84211407 DNAAF1 C>T	16	84211407	84211407	C	T	DNAAF1	c.2138C>T	NM_178452.6	NP_848547.4:p.(Thr713Met)	NC_000016.9:g.84211407C>T	VUS	1 lab	e1840ce388
5:122911430 CSNK1G3 G>A	5	122911430	122911430	G	A	CSNK1G3	c.446G>A	NM_001044723.2	NP_001038188.1:p.(Arg149His)	NC_000005.9:g.122911430G>A	VUS	1 lab	0b53abee84
2:228004879 COL4A4 G>A	2	228004879	228004879	G	A	COL4A4	c.190C>T	NM_000092.4	NP_000083.3:p.(Arg64Trp)	NC_000002.11:g.228004879G>A	VUS	1 lab	0b5460df1a
1:151315421 RFX5 T>C	1	151315421	151315421	T	C	RFX5	c.1092A>G	NM_000449.3	NP_000440.1:p.(Thr364=)	NC_000001.10:g.151315421T>C	(Likely) benign	1 lab	0b5501fd37
6:170162515 ERMARD A>C	6	170162515	170162515	A	C	ERMARD	c.858-10A>C	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170162515A>C	(Likely) benign	1 lab	0b568f08b1
16:67208360 NOL3 G>A	16	67208360	67208360	G	A	NOL3	c.288G>A	NM_001276312.1	NP_001263241.1:p.(Val96=)	NC_000016.9:g.67208360G>A	VUS	1 lab	0b58ba295b
22:38109227 TRIOBP C>G	22	38109227	38109227	C	G	TRIOBP	c.265C>G	NM_001039141.2	NP_001034230.1:p.(Pro89Ala)	NC_000022.10:g.38109227C>G	(Likely) benign	1 lab	0b5aa1b15b
2:32362230 SPAST C>A	2	32362230	32362230	C	A	SPAST	c.1466C>A	NM_014946.3	NP_055761.2:p.(Pro489Gln)	NC_000002.11:g.32362230C>A	(Likely) pathogenic	1 lab	0b5c095f8a
17:78087128 GAA G>A	17	78087128	78087128	G	A	GAA	c.2152G>A	NM_000152.3	NP_000143.2:p.(Val718Ile)	NC_000017.10:g.78087128G>A	(Likely) benign	1 lab	0b5d0b1f23
17:7906426 GUCY2D T>C	17	7906426	7906426	T	C	GUCY2D	c.61T>C	NM_000180.3	NP_000171.1:p.(Trp21Arg)	NC_000017.10:g.7906426T>C	(Likely) benign	1 lab	0b5d31fd6d
18:67684857 RTTN T>A	18	67684857	67684857	T	A	RTTN	c.6207A>T	NM_173630.3	NP_775901.3:p.(Lys2069Asn)	NC_000018.9:g.67684857T>A	VUS	1 lab	0b5e35d4ce
6:152651312 SYNE1 G>A	6	152651312	152651312	G	A	SYNE1	c.14508C>T	NM_182961.3	NP_892006.3:p.(Thr4836=)	NC_000006.11:g.152651312G>A	(Likely) benign	1 lab	0b60022f35
X:48650368 GATA1 G>A	X	48650368	48650368	G	A	GATA1	c.338G>A	NM_002049.3	NP_002040.1:p.(Arg113His)	NC_000023.10:g.48650368G>A	(Likely) benign	1 lab	0b61be3020
1:228345766 GJC2 GC>G	1	228345766	228345769	GC	G	GJC2	c.310del	NM_020435.4	NP_065168.2:p.(Arg104ValfsTer106)	NC_000001.10:g.228345769del	(Likely) pathogenic	1 lab	0b62ea64a8
1:11836691 C1orf167 G>C	1	11836691	11836691	G	C	C1orf167	c.2335G>C	NM_001010881.1	NP_001010881.1:p.(Ala779Pro)	NC_000001.10:g.11836691G>C	VUS	1 lab	0b631e1628
12:102813404 IGF1 G>T	12	102813404	102813404	G	T	IGF1	c.285C>A	NM_001111283.2	NP_001104753.1:p.(Cys95Ter)	NC_000012.11:g.102813404G>T	(Likely) pathogenic	1 lab	0b65762407
18:34409118 KIAA1328 GC>G	18	34409118	34409122	GC	G	KIAA1328	c.21del	NM_020776.3	NP_065827.1:p.(Ser8ProfsTer20)	NC_000018.9:g.34409122del	VUS	1 lab	0b65a3c0b7
2:31399918 CAPN14 A>C	2	31399918	31399918	A	C	CAPN14	c.1418T>G	NM_001321270.1	NP_001308199.1:p.(Leu473Trp)	NC_000002.11:g.31399918A>C	(Likely) benign	1 lab	0b6678eb47
18:67844097 RTTN C>T	18	67844097	67844097	C	T	RTTN	c.1306-16G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67844097C>T	(Likely) benign	1 lab	0b66afab4b
12:124180967 TCTN2 C>T	12	124180967	124180967	C	T	TCTN2	c.1318C>T	NM_024809.4	NP_079085.2:p.(Gln440Ter)	NC_000012.11:g.124180967C>T	(Likely) pathogenic	1 lab	0b676f8609
1:236201466 NID1 G>A	1	236201466	236201466	G	A	NID1	c.1223C>T	NM_002508.2	NP_002499.2:p.(Thr408Met)	NC_000001.10:g.236201466G>A	VUS	1 lab	0b6867cc15
3:75787098 ZNF717 CCT>C	3	75787098	75787100	CCT	C	ZNF717	c.1674_1675del	NM_001290208.3	NP_001277137.1:p.(Glu560LysfsTer4)	NC_000003.11:g.75787099_75787100del	(Likely) benign	1 lab	0b6a185980
10:100182171 HPS1 C>T	10	100182171	100182171	C	T	HPS1	c.1698G>A	NM_000195.4	NP_000186.2:p.(Ser566=)	NC_000010.10:g.100182171C>T	(Likely) benign	1 lab	0b759b62a4
3:38628975 SCN5A G>A	3	38628975	38628975	G	A	SCN5A	c.2352C>T	NM_198056.3	NP_932173.1:p.(Phe784=)	NC_000003.11:g.38628975G>A	(Likely) benign	1 lab	e186bdf112
4:144359571 GAB1 C>T	4	144359571	144359571	C	T	GAB1	c.1013C>T	NM_207123.2	NP_997006.1:p.(Pro338Leu)	NC_000004.11:g.144359571C>T	VUS	1 lab	0b6fc1987e
X:71359310 NHSL2 T>G	X	71359310	71359310	T	G	NHSL2	c.1912T>G	NM_001013627.2	NP_001013649.2:p.(Trp638Gly)	NC_000023.10:g.71359310T>G	(Likely) benign	1 lab	0b7008f3be
7:113519160 PPP1R3A CCT>C	7	113519160	113519162	CCT	C	PPP1R3A	c.1985_1986del	NM_002711.4	NP_002702.2:p.(Gln662ArgfsTer7)	NC_000007.13:g.113519161_113519162del	VUS	1 lab	0b7017cd11
11:6644714 DCHS1 G>A	11	6644714	6644714	G	A	DCHS1				NC_000011.9:g.6644714G>A	(Likely) benign	1 lab	154fc0fa47
19:6710722 C3 G>T	19	6710722	6710722	G	T	C3	c.1614C>A	NM_000064.2	NP_000055.2:p.(Ile538=)	NC_000019.9:g.6710722G>T	(Likely) benign	1 lab	0b70c0dc26
13:110814557 COL4A1 T>C	13	110814557	110814557	T	C	COL4A1	c.4462+20A>G	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110814557T>C	(Likely) benign	1 lab	0b711362f1
2:96950332 SNRNP200 C>T	2	96950332	96950332	C	T	SNRNP200	c.4165-9G>A	NM_014014.4	NP_054733.2:p.?	NC_000002.11:g.96950332C>T	(Likely) benign	1 lab	0b717e01f4
5:6604370 NSUN2 G>T	5	6604370	6604370	G	T	NSUN2	c.1838C>A	NM_017755.5	NP_060225.4:p.(Pro613Gln)	NC_000005.9:g.6604370G>T	VUS	1 lab	0b71801377
8:31014945 WRN C>T	8	31014945	31014945	C	T	WRN	c.3881C>T	NM_000553.4	NP_000544.2:p.(Ala1294Val)	NC_000008.10:g.31014945C>T	VUS	1 lab	0b71f3dcac
2:220333369 SPEG A>G	2	220333369	220333369	A	G	SPEG	c.3212A>G	NM_005876.4	NP_005867.3:p.(Glu1071Gly)	NC_000002.11:g.220333369A>G	VUS	1 lab	0b72fbfc18
2:96811090 DUSP2 C>T	2	96811090	96811090	C	T	DUSP2	c.4G>A	NM_004418.4	NP_004409.1:p.(Gly2Arg)	NC_000002.11:g.96811090C>T	VUS	1 lab	0b737756aa
2:74184356 DGUOK C>T	2	74184356	74184356	C	T	DGUOK	c.696C>T	NM_080916.2	NP_550438.1:p.(His232=)	NC_000002.11:g.74184356C>T	(Likely) benign	1 lab	0b749cbd40
3:184042676 EIF4G1 G>A	3	184042676	184042676	G	A	EIF4G1	c.2633G>A	NM_182917.4	NP_886553.3:p.(Arg878Gln)	NC_000003.11:g.184042676G>A	VUS	1 lab	0b74a54780
16:88496593 ZNF469 G>A	16	88496593	88496593	G	A	ZNF469				NC_000016.9:g.88496593G>A	(Likely) benign	1 lab	0b7576ecbe
17:29552101 NF1 A>T	17	29552101	29552101	A	T	NF1	c.1846-12A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29552101A>T	(Likely) benign	1 lab	0b773cf45f
19:44681161 ZNF226 G>A	19	44681161	44681161	G	A	ZNF226	c.1746G>A	NM_016444.2	NP_057528.2:p.(Thr582=)	NC_000019.9:g.44681161G>A	(Likely) benign	1 lab	0b782ebc95
20:10633182 JAG1 C>A	20	10633182	10633182	C	A	JAG1	c.820G>T	NM_000214.3	NP_000205.1:p.(Gly274Cys)	NC_000020.10:g.10633182C>A	(Likely) pathogenic	1 lab	e187707d2d
6:33657157 ITPR3 G>A	6	33657157	33657157	G	A	ITPR3	c.6837G>A	NM_002224.3	NP_002215.2:p.(Gly2279=)	NC_000006.11:g.33657157G>A	(Likely) benign	1 lab	0b798a279e
5:78181570 ARSB G>A	5	78181570	78181570	G	A	ARSB	c.979C>T	NM_000046.4	NP_000037.2:p.(Arg327Ter)	NC_000005.9:g.78181570G>A	(Likely) pathogenic	1 lab	0b79bbf268
4:16002120 PROM1 C>T	4	16002120	16002120	C	T	PROM1	c.1550G>A	NM_001145847.1	NP_001139319.1:p.(Arg517Gln)	NC_000004.11:g.16002120C>T	VUS	1 lab	0b7ccb65e3
X:47308368 ZNF41 C>T	X	47308368	47308368	C	T	ZNF41	c.801G>A	NM_007130.3	NP_009061.1:p.(Glu267=)	NC_000023.10:g.47308368C>T	(Likely) benign	1 lab	0b7cec6a7f
20:49508797 ADNP G>C	20	49508797	49508797	G	C	ADNP	c.2454C>G	NM_001282531.3	NP_001269460.1:p.(Tyr818Ter)	NC_000020.10:g.49508797G>C	(Likely) pathogenic	1 lab	e18864cf8e
2:169746009 SPC25 T>C	2	169746009	169746009	T	C	SPC25	c.21A>G	NM_020675.4	NP_065726.1:p.(Ala7=)	NC_000002.11:g.169746009T>C	(Likely) benign	1 lab	0b7e48da42
2:48066787 FBXO11 A>T	2	48066787	48066787	A	T	FBXO11	c.354T>A	NM_001190274.2	NP_001177203.1:p.(Ser118Arg)	NC_000002.11:g.48066787A>T	VUS	1 lab	e188f72934
14:23888815 MYH7 T>G	14	23888815	23888815	T	G	MYH7	c.3730A>C	NM_000257.4	NP_000248.2:p.(Asn1244His)	NC_000014.8:g.23888815T>G	VUS	1 lab	e18a25440c
12:88505477 CEP290 A>G	12	88505477	88505477	A	G	CEP290	c.2211T>C	NM_025114.3	NP_079390.3:p.(Asn737=)	NC_000012.11:g.88505477A>G	(Likely) benign	1 lab	0b80d548f6
X:37312632 PRRG1 T>C	X	37312632	37312632	T	C	PRRG1	c.415T>C	NM_001173489.1	NP_001166960.1:p.(Phe139Leu)	NC_000023.10:g.37312632T>C	(Likely) benign	1 lab	0b82d5caf6
X:48925434 CCDC120 G>A	X	48925434	48925434	G	A	CCDC120				NC_000023.10:g.48925434G>A	VUS	1 lab	0b837b962c
X:23803524 SAT1 C>A	X	23803524	23803524	C	A	SAT1	c.282C>A	NM_002970.3	NP_002961.1:p.(Phe94Leu)	NC_000023.10:g.23803524C>A	VUS	1 lab	0b84e06082
17:29533257 NF1 G>T	17	29533257	29533257	G	T	NF1	c.1261-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533257G>T	(Likely) pathogenic	1 lab	0b85cbf33d
19:9003360 MUC16 G>A	19	9003360	9003360	G	A	MUC16	c.40075C>T	NM_024690.2	NP_078966.2:p.(Leu13359Phe)	NC_000019.9:g.9003360G>A	VUS	1 lab	0b85f32c5f
8:144994550 PLEC T>C	8	144994550	144994550	T	C	PLEC	c.9850A>G	NM_201380.3	NP_958782.1:p.(Ser3284Gly)	NC_000008.10:g.144994550T>C	(Likely) benign	1 lab	0b869179e7
X:53620353 HUWE1 C>A	X	53620353	53620353	C	A	HUWE1	c.3712G>T	NM_031407.6	NP_113584.3:p.(Ala1238Ser)	NC_000023.10:g.53620353C>A	VUS	1 lab	0b86c11cfe
12:52708420 KRT83 G>A	12	52708420	52708420	G	A	KRT83	c.1477C>T	NM_002282.3	NP_002273.3:p.(His493Tyr)	NC_000012.11:g.52708420G>A	(Likely) benign	1 lab	e18a29f770
X:153296075 MECP2 G>T	X	153296075	153296075	G	T	MECP2	c.1204C>A	NM_004992.3	NP_004983.1:p.(Pro402Thr)	NC_000023.10:g.153296075G>T	(Likely) benign	1 lab	0b873fc7fb
17:29508506 NF1 AG>A	17	29508506	29508508	AG	A	NF1	c.654+1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508508del	(Likely) pathogenic	1 lab	0b87889ea5
3:189691715 P3H2 C>T	3	189691715	189691715	C	T	P3H2	c.1531G>A	NM_018192.4	NP_060662.2:p.(Val511Ile)	NC_000003.11:g.189691715C>T	VUS	1 lab	0b88fe0bbf
22:19754255 TBX1 T>C	22	19754255	19754255	T	C	TBX1	c.1353T>C	NM_080647.1	NP_542378.1:p.(His451=)	NC_000022.10:g.19754255T>C	(Likely) benign	1 lab	0b8969149c
7:158434251 NCAPG2 GA>G	7	158434251	158434266	GA	G	NCAPG2	c.3380+2729del	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158434266del	(Likely) benign	1 lab	0b8a3d3eef
X:109561017 AMMECR1 T>A	X	109561017	109561017	T	A	AMMECR1	c.283A>T	NM_015365.2	NP_056180.1:p.(Thr95Ser)	NC_000023.10:g.109561017T>A	(Likely) benign	1 lab	0b8c472cbb
6:132695779 MOXD1 C>G	6	132695779	132695779	C	G	MOXD1	c.402G>C	NM_015529.4	NP_056344.2:p.(Lys134Asn)	NC_000006.11:g.132695779C>G	(Likely) benign	1 lab	0b8c6b8379
2:233986969 INPP5D T>TAGGG	2	233986969	233986982	T	TAGGG	INPP5D	c.349+12_349+15dup	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.233986979_233986982dup	(Likely) benign	1 lab	0b8f86cf2f
X:6452158 VCX3A C>G	X	6452158	6452158	C	G	VCX3A	c.189G>C	NM_016379.3	NP_057463.2:p.(Thr63=)	NC_000023.10:g.6452158C>G	(Likely) benign	1 lab	0b90d50c2d
3:63898321 ATXN7 C>G	3	63898321	63898321	C	G	ATXN7	c.47C>G	NM_000333.3	NP_000324.1:p.(Ala16Gly)	NC_000003.11:g.63898321C>G	VUS	1 lab	0b9157982e
7:36616251 AOAH T>C	7	36616251	36616251	T	C	AOAH	c.950A>G	NM_001177506.1	NP_001170977.1:p.(Lys317Arg)	NC_000007.13:g.36616251T>C	(Likely) benign	1 lab	0b931c72e0
19:55538980 GP6 T>C	19	55538980	55538980	T	C	GP6	c.576A>G	NM_001083899.2	NP_001077368.2:p.(Ser192=)	NC_000019.9:g.55538980T>C	(Likely) benign	1 lab	e18c18dc93
10:127458940 MMP21 G>A	10	127458940	127458940	G	A	MMP21	c.1200C>T	NM_147191.1	NP_671724.1:p.(Ile400=)	NC_000010.10:g.127458940G>A	(Likely) benign	1 lab	0b945d32a6
9:126135511 CRB2 C>T	9	126135511	126135511	C	T	CRB2	c.2701C>T	NM_173689.6	NP_775960.4:p.(Arg901Cys)	NC_000009.11:g.126135511C>T	VUS	1 lab	0b94c87b17
7:143965476 CTAGE8 C>T	7	143965476	143965476	C	T	CTAGE8	c.868G>A	NM_001278507.1	NP_001265436.1:p.(Asp290Asn)	NC_000007.13:g.143965476C>T	(Likely) benign	1 lab	0b9720c173
2:208994297 CRYGC G>A	2	208994297	208994297	G	A	CRYGC	c.120C>T	NM_020989.3	NP_066269.1:p.(Ser40=)	NC_000002.11:g.208994297G>A	(Likely) benign	1 lab	0b97d00c07
9:21970945 CDKN2A C>G	9	21970945	21970945	C	G	CDKN2A	c.413G>C	NM_001195132.1	NP_001182061.1:p.(Arg138Thr)	NC_000009.11:g.21970945C>G	(Likely) benign	1 lab	0b97d1574c
1:207520795 CD55 C>T	1	207520795	207520795	C	T	CD55	c.1085C>T	NM_001300903.1	NP_001287832.1:p.(Thr362Met)	NC_000001.10:g.207520795C>T	(Likely) benign	1 lab	0b99a0575a
1:152283406 FLG T>G	1	152283406	152283406	T	G	FLG	c.3956A>C	NM_002016.1	NP_002007.1:p.(His1319Pro)	NC_000001.10:g.152283406T>G	(Likely) benign	1 lab	0b99f26ada
19:55668703 TNNI3 GG>A	19	55668703	55668704	GG	A	TNNI3	c.12-28_12-27delinsT	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668703_55668704delinsA	(Likely) benign	1 lab	0b9ae5e6b8
14:64547335 SYNE2 T>C	14	64547335	64547335	T	C	SYNE2	c.11325T>C	NM_182914.2	NP_878918.2:p.(Cys3775=)	NC_000014.8:g.64547335T>C	(Likely) benign	1 lab	0b9b3e458a
X:122336600 GRIA3 T>GTG	X	122336600	122336600	T	GTG	GRIA3	c.380dup	NM_001256743.1	NP_001243672.1:p.(Gly128TrpfsTer16)	NC_000023.10:g.122336600delinsGTG	(Likely) benign	1 lab	0b9cd3d42b
9:101540547 ANKS6 A>G	9	101540547	101540547	A	G	ANKS6	c.1528T>C	NM_173551.4	NP_775822.3:p.(Ser510Pro)	NC_000009.11:g.101540547A>G	(Likely) benign	1 lab	0b9dc63611
8:10469011 RP1L1 C>T	8	10469011	10469011	C	T	RP1L1	c.2597G>A	NM_178857.5	NP_849188.4:p.(Arg866His)	NC_000008.10:g.10469011C>T	(Likely) benign	1 lab	0b9e856fc1
11:71715138 NUMA1 C>T	11	71715138	71715138	C	T	NUMA1	c.6089G>A	NM_001286561.1	NP_001273490.1:p.(Arg2030Gln)	NC_000011.9:g.71715138C>T	VUS	1 lab	0b9ef92bfd
13:78472416 EDNRB T>C	13	78472416	78472416	T	C	EDNRB	c.1518A>G	NM_001201397.1	NP_001188326.1:p.(Glu506=)	NC_000013.10:g.78472416T>C	(Likely) benign	1 lab	0b9f142406
7:128415199 OPN1SW G>A	7	128415199	128415199	G	A	OPN1SW	c.362C>T	NM_001708.2	NP_001699.1:p.(Thr121Ile)	NC_000007.13:g.128415199G>A	VUS	1 lab	0b9fed6543
1:201750407 NAV1 C>T	1	201750407	201750407	C	T	NAV1	c.1633C>T	NM_020443.4	NP_065176.3:p.(His545Tyr)	NC_000001.10:g.201750407C>T	VUS	1 lab	0ba349bfca
11:16816193 PLEKHA7 G>C	11	16816193	16816193	G	C	PLEKHA7	c.2587C>G	NM_001329630.2	NP_001316559.1:p.(Pro863Ala)	NC_000011.9:g.16816193G>C	(Likely) benign	1 lab	0ba4abc8ce
2:179315092 PRKRA C>T	2	179315092	179315092	C	T	PRKRA	c.79G>A	NM_001139517.1	NP_001132989.1:p.(Val27Ile)	NC_000002.11:g.179315092C>T	(Likely) benign	1 lab	0ba59f3086
1:205116802 DSTYK C>T	1	205116802	205116802	C	T	DSTYK	c.2674G>A	NM_015375.2	NP_056190.1:p.(Asp892Asn)	NC_000001.10:g.205116802C>T	VUS	1 lab	0ba6be4bfc
16:2161467 PKD1 G>A	16	2161467	2161467	G	A	PKD1	c.3701C>T	NM_001009944.2	NP_001009944.2:p.(Ala1234Val)	NC_000016.9:g.2161467G>A	(Likely) benign	1 lab	0ba9643cfd
X:132670279 GPC3 C>G	X	132670279	132670279	C	G	GPC3	c.1685G>C	NM_001164617.1	NP_001158089.1:p.(Ser562Thr)	NC_000023.10:g.132670279C>G	VUS	1 lab	0ba9d2a7a9
X:70837226 CXCR3 G>T	X	70837226	70837226	G	T	CXCR3	c.237C>A	NM_001142797.1	NP_001136269.1:p.(Asn79Lys)	NC_000023.10:g.70837226G>T	(Likely) benign	1 lab	0ba9d364ea
8:119122568 EXT1 CCTTAGAAAAGAGGGG>C	8	119122568	119122583	CCTTAGAAAAGAGGGG	C	EXT1	c.703_717del	NM_000127.3	NP_000118.2:p.(Pro235_Lys239del)	NC_000008.10:g.119122569_119122583del	(Likely) pathogenic	1 lab	0ba9e6a687
11:57559050 CTNND1 C>G	11	57559050	57559050	C	G	CTNND1	c.100C>G	NM_001085458.1	NP_001078927.1:p.(Arg34Gly)	NC_000011.9:g.57559050C>G	(Likely) benign	1 lab	0babda784b
20:428523 TBC1D20 C>T	20	428523	428523	C	T	TBC1D20	c.256+10G>A	NM_144628.3	NP_653229.1:p.?	NC_000020.10:g.428523C>T	(Likely) benign	1 lab	0baca8274b
12:6954909 GNB3 G>A	12	6954909	6954909	G	A	GNB3	c.859G>A	NM_002075.3	NP_002066.1:p.(Ala287Thr)	NC_000012.11:g.6954909G>A	VUS	1 lab	0bae4b2d2f
20:442983 TBC1D20 C>A	20	442983	442983	C	A	TBC1D20	c.67G>T	NM_144628.3	NP_653229.1:p.(Ala23Ser)	NC_000020.10:g.442983C>A	(Likely) benign	1 lab	0baebf14d8
14:53525239 DDHD1 T>C	14	53525239	53525239	T	C	DDHD1	c.1948A>G	NM_001160148.1	NP_001153620.1:p.(Ile650Val)	NC_000014.8:g.53525239T>C	VUS	1 lab	0bb0deb6c0
14:20586107 OR4K17 T>C	14	20586107	20586107	T	C	OR4K17	c.542T>C	NM_001004715.1	NP_001004715.1:p.(Leu181Pro)	NC_000014.8:g.20586107T>C	VUS	1 lab	0bb160703b
16:2106652 TSC2 TG>T	16	2106652	2106653	TG	T	TSC2	c.657del	NM_000548.5	NP_000539.2:p.(Gln220ArgfsTer40)	NC_000016.9:g.2106653del	(Likely) pathogenic	1 lab	0bb3318af0
2:26700316 OTOF G>A	2	26700316	26700316	G	A	OTOF	c.2374C>T	NM_194248.2	NP_919224.1:p.(Arg792Trp)	NC_000002.11:g.26700316G>A	VUS	1 lab	0bb3d66c01
8:12947789 DLC1 G>C	8	12947789	12947789	G	C	DLC1	c.4046C>G	NM_182643.2	NP_872584.2:p.(Ser1349Trp)	NC_000008.10:g.12947789G>C	VUS	1 lab	0bb4362de0
2:110920620 NPHP1 A>G	2	110920620	110920620	A	G	NPHP1	c.1027+5T>C	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110920620A>G	(Likely) benign	1 lab	0bb49ac818
X:50351163 SHROOM4 A>G	X	50351163	50351163	A	G	SHROOM4	c.2979T>C	NM_020717.3	NP_065768.2:p.(Thr993=)	NC_000023.10:g.50351163A>G	(Likely) benign	1 lab	0bb58ef5fd
1:98060705 DPYD T>C	1	98060705	98060705	T	C	DPYD	c.868A>G	NM_000110.3	NP_000101.2:p.(Lys290Glu)	NC_000001.10:g.98060705T>C	(Likely) benign	1 lab	0bb5ae9740
1:152285625 FLG G>A	1	152285625	152285625	G	A	FLG	c.1737C>T	NM_002016.1	NP_002007.1:p.(Asp579=)	NC_000001.10:g.152285625G>A	(Likely) benign	1 lab	0bb5c0c99c
11:57077077 TNKS1BP1 C>T	11	57077077	57077077	C	T	TNKS1BP1	c.3108G>A	NM_033396.3	NP_203754.2:p.(Pro1036=)	NC_000011.9:g.57077077C>T	(Likely) benign	1 lab	0bb5ca09d1
X:154327607 BRCC3 G>A	X	154327607	154327607	G	A	BRCC3	c.566G>A	NM_024332.3	NP_077308.1:p.(Arg189Gln)	NC_000023.10:g.154327607G>A	(Likely) benign	1 lab	0bb75a30d0
X:49105107 CCDC22 G>A	X	49105107	49105107	G	A	CCDC22	c.1343G>A	NM_014008.4	NP_054727.1:p.(Arg448Gln)	NC_000023.10:g.49105107G>A	VUS	1 lab	0bb777b38c
1:240371049 FMN2 C>G	1	240371049	240371049	C	G	FMN2	c.2937C>G	NM_020066.5	NP_064450.3:p.(Pro979=)	NC_000001.10:g.240371049C>G	(Likely) benign	1 lab	0bb7b827dc
17:1637437 WDR81 C>T	17	1637437	1637437	C	T	WDR81	c.5106C>T	NM_001163809.1	NP_001157281.1:p.(Phe1702=)	NC_000017.10:g.1637437C>T	(Likely) benign	1 lab	0bb9fc7687
6:56507445 DST C>T	6	56507445	56507445	C	T	DST	c.142G>A	NM_015548.4	NP_056363.2:p.(Gly48Ser)	NC_000006.11:g.56507445C>T	(Likely) benign	1 lab	0bbc9c5a5d
17:29592246 NF1 G>C	17	29592246	29592246	G	C	NF1	c.4662-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29592246G>C	(Likely) pathogenic	1 lab	0bbf0a4f8e
4:183696245 TENM3 A>G	4	183696245	183696245	A	G	TENM3	c.5243A>G	NM_001080477.3	NP_001073946.1:p.(Glu1748Gly)	NC_000004.11:g.183696245A>G	VUS	1 lab	0bc03d054d
12:51065124 DIP2B G>A	12	51065124	51065124	G	A	DIP2B	c.583G>A	NM_173602.2	NP_775873.2:p.(Gly195Arg)	NC_000012.11:g.51065124G>A	VUS	1 lab	0bc06d831b
7:35242350 TBX20 G>A	7	35242350	35242350	G	A	TBX20	c.1036C>T	NM_001077653.2	NP_001071121.1:p.(Leu346Phe)	NC_000007.13:g.35242350G>A	VUS	1 lab	e190a3a874
5:112174157 APC T>C	5	112174157	112174157	T	C	APC				NC_000005.9:g.112174157T>C	VUS	1 lab	0bc1bf9aac
6:152476161 SYNE1 G>A	6	152476161	152476161	G	A	SYNE1	c.23995C>T	NM_182961.3	NP_892006.3:p.(Arg7999Ter)	NC_000006.11:g.152476161G>A	(Likely) pathogenic	1 lab	0bc334b0e2
18:34261542 FHOD3 G>A	18	34261542	34261542	G	A	FHOD3	c.1970+9G>A	NM_001281740.2	NP_001268669.1:p.?	NC_000018.9:g.34261542G>A	(Likely) benign	1 lab	0bc9f91b43
15:31295162 TRPM1 G>A	15	31295162	31295162	G	A	TRPM1	c.3792C>T	NM_001252020.1	NP_001238949.1:p.(Asn1264=)	NC_000015.9:g.31295162G>A	(Likely) benign	1 lab	0bca43736d
5:171303521 FBXW11 G>A	5	171303521	171303521	G	A	FBXW11	c.926C>T	NM_012300.2	NP_036432.2:p.(Thr309Met)	NC_000005.9:g.171303521G>A	VUS	1 lab	0bca75c539
17:29545987 NF1 A>AT	17	29545987	29545994	A	AT	NF1	c.1528-29dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29545994dup	(Likely) benign	1 lab	0bcdc0dfc0
11:6630410 ILK T>C	11	6630410	6630410	T	C	ILK	c.618+23T>C	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6630410T>C	(Likely) benign	1 lab	309ade7834
7:103206002 RELN A>AG	7	103206002	103206003	A	AG	RELN	c.4937-5_4937-4insC	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103206002_103206003insG	(Likely) benign	1 lab	0bce7d9a8a
1:208218036 PLXNA2 C>G	1	208218036	208218036	C	G	PLXNA2	c.3691G>C	NM_025179.4	NP_079455.3:p.(Asp1231His)	NC_000001.10:g.208218036C>G	VUS	1 lab	0bceead38d
9:130587520 ENG A>G	9	130587520	130587520	A	G	ENG	c.806T>C	NM_000118.3	NP_000109.1:p.(Met269Thr)	NC_000009.11:g.130587520A>G	VUS	1 lab	e195bfdfc8
10:69935145 MYPN G>T	10	69935145	69935145	G	T	MYPN	c.1748G>T	NM_001256268.1	NP_001243197.1:p.(Arg583Leu)	NC_000010.10:g.69935145G>T	VUS	1 lab	0bcf2661b4
17:47810017 FAM117A G>A	17	47810017	47810017	G	A	FAM117A	c.262C>T	NM_030802.4	NP_110429.1:p.(Arg88Cys)	NC_000017.10:g.47810017G>A	VUS	1 lab	0bd0bfbd93
4:73944597 ANKRD17 T>C	4	73944597	73944597	T	C	ANKRD17	c.7170A>G	NM_032217.4	NP_115593.3:p.(Ala2390=)	NC_000004.11:g.73944597T>C	(Likely) benign	1 lab	0bd1313ef0
X:16887764 RBBP7 T>G	X	16887764	16887764	T	G	RBBP7	c.1A>C	NM_001198719.1	NP_001185648.1:p.(Met1?)	NC_000023.10:g.16887764T>G	VUS	1 lab	0bd14f699a
9:133946924 LAMC3 C>T	9	133946924	133946924	C	T	LAMC3	c.3123C>T	NM_006059.3	NP_006050.3:p.(Ser1041=)	NC_000009.11:g.133946924C>T	(Likely) benign	1 lab	0bd17de85e
22:21235389 SNAP29 A>G	22	21235389	21235389	A	G	SNAP29	c.487A>G	NM_004782.3	NP_004773.1:p.(Ser163Gly)	NC_000022.10:g.21235389A>G	VUS	1 lab	0bd2e7c458
19:50097746 PRR12 G>A	19	50097746	50097746	G	A	PRR12	c.235G>A	NM_020719.2	NP_065770.1:p.(Ala79Thr)	NC_000019.9:g.50097746G>A	VUS	1 lab	0bd40def10
9:139400110 NOTCH1 C>T	9	139400110	139400110	C	T	NOTCH1	c.4238G>A	NM_017617.5	NP_060087.3:p.(Arg1413His)	NC_000009.11:g.139400110C>T	(Likely) benign	1 lab	0bd4a16fd2
17:2577377 PAFAH1B1 GAC>G	17	2577377	2577382	GAC	G	PAFAH1B1	c.699_700del	NM_000430.4	NP_000421.1:p.(His233GlnfsTer22)	NC_000017.10:g.2577381_2577382del	(Likely) pathogenic	1 lab	0bd8a5b5cc
21:42830680 MX1 G>A	21	42830680	42830680	G	A	MX1	c.1984G>A	NM_001144925.2	NP_001138397.1:p.(Gly662Ser)	NC_000021.8:g.42830680G>A	(Likely) benign	1 lab	0bdb6aee50
17:18057172 MYO15A T>C	17	18057172	18057172	T	C	MYO15A	c.8050T>C	NM_016239.3	NP_057323.3:p.(Tyr2684His)	NC_000017.10:g.18057172T>C	VUS	1 lab	0bdb98b933
18:19749644 GATA6 G>T	18	19749644	19749644	G	T	GATA6	c.-38+1G>T	NM_005257.5	NP_005248.2:p.?	NC_000018.9:g.19749644G>T	VUS	1 lab	0bdbc5e562
8:61654720 CHD7 C>T	8	61654720	61654720	C	T	CHD7				NC_000008.10:g.61654720C>T	(Likely) benign	1 lab	0bdc01db99
13:39432023 FREM2 C>T	13	39432023	39432023	C	T	FREM2	c.7068C>T	NM_207361.5	NP_997244.4:p.(Ala2356=)	NC_000013.10:g.39432023C>T	(Likely) benign	1 lab	0bdc6ff585
3:142756996 U2SURP T>G	3	142756996	142756996	T	G	U2SURP	c.969T>G	NM_001320222.1	NP_001307151.1:p.(Val323=)	NC_000003.11:g.142756996T>G	(Likely) benign	1 lab	0bdfcd9a05
17:29528131 NF1 T>C	17	29528131	29528131	T	C	NF1	c.1139T>C	NM_000267.3	NP_000258.1:p.(Leu380Pro)	NC_000017.10:g.29528131T>C	(Likely) pathogenic	1 lab	0be0d13a80
11:71804708 LRTOMT G>A	11	71804708	71804708	G	A	LRTOMT	c.249G>A	NM_001271471.2	NP_001258400.1:p.(Trp83Ter)	NC_000011.9:g.71804708G>A	(Likely) pathogenic	1 lab	0be218a2b0
15:43499436 EPB42 G>A	15	43499436	43499436	G	A	EPB42	c.1279C>T	NM_001114134.1	NP_001107606.1:p.(Arg427Cys)	NC_000015.9:g.43499436G>A	VUS	1 lab	0be30f63c6
12:52159669 SCN8A A>G	12	52159669	52159669	A	G	SCN8A	c.2759A>G	NM_001330260.1	NP_001317189.1:p.(His920Arg)	NC_000012.11:g.52159669A>G	(Likely) benign	1 lab	0be3354552
15:43814986 MAP1A GAGA>G	15	43814986	43814994	GAGA	G	MAP1A	c.1321_1323del	NM_002373.6	NP_002364.5:p.(Lys441del)	NC_000015.9:g.43814992_43814994del	VUS	1 lab	0be4d3c84a
18:67687989 RTTN G>A	18	67687989	67687989	G	A	RTTN	c.6015C>T	NM_173630.3	NP_775901.3:p.(Ala2005=)	NC_000018.9:g.67687989G>A	(Likely) benign	1 lab	0be7b02935
16:89349178 ANKRD11 CTT>C	16	89349178	89349181	CTT	C	ANKRD11	c.3770_3771del	NM_013275.6	NP_037407.4:p.(Lys1257ArgfsTer25)	NC_000016.9:g.89349180_89349181del	(Likely) pathogenic	1 lab	0be8530061
8:55538687 RP1 C>T	8	55538687	55538687	C	T	RP1	c.2245C>T	NM_006269.1	NP_006260.1:p.(Leu749Phe)	NC_000008.10:g.55538687C>T	(Likely) benign	1 lab	0bea627e29
1:12027034 PLOD1 C>T	1	12027034	12027034	C	T	PLOD1	c.1651-10C>T	NM_000302.3	NP_000293.2:p.?	NC_000001.10:g.12027034C>T	(Likely) benign	1 lab	0bea97d577
17:10354131 MYH4 A>G	17	10354131	10354131	A	G	MYH4	c.3947T>C	NM_017533.2	NP_060003.2:p.(Ile1316Thr)	NC_000017.10:g.10354131A>G	VUS	1 lab	0beaac1313
21:33065661 SCAF4 CTT>C	21	33065661	33065666	CTT	C	SCAF4	c.1457_1458del	NM_020706.2	NP_065757.1:p.(Lys486ArgfsTer49)	NC_000021.8:g.33065665_33065666del	VUS	1 lab	0beb2f8295
15:90177036 KIF7 C>T	15	90177036	90177036	C	T	KIF7	c.2473G>A	NM_198525.2	NP_940927.2:p.(Glu825Lys)	NC_000015.9:g.90177036C>T	VUS	1 lab	0beb977fb4
3:160222748 KPNA4 C>A	3	160222748	160222748	C	A	KPNA4	c.1465G>T	NM_002268.5	NP_002259.1:p.(Asp489Tyr)	NC_000003.11:g.160222748C>A	VUS	1 lab	0beba67648
X:153134417 L1CAM G>A	X	153134417	153134417	G	A	L1CAM	c.1268-10C>T	NM_000425.4	NP_000416.1:p.?	NC_000023.10:g.153134417G>A	(Likely) benign	1 lab	0beba9c08c
7:100646464 MUC12 C>A	7	100646464	100646464	C	A	MUC12	c.12620C>A	NM_001164462.1	NP_001157934.1:p.(Thr4207Lys)	NC_000007.13:g.100646464C>A	(Likely) benign	1 lab	0bebf704f3
20:34022501 GDF5 C>A	20	34022501	34022501	C	A	GDF5	c.712G>T	NM_000557.4	NP_000548.2:p.(Glu238Ter)	NC_000020.10:g.34022501C>A	(Likely) pathogenic	1 lab	0befd91903
1:152281157 FLG G>T	1	152281157	152281157	G	T	FLG	c.6205C>A	NM_002016.1	NP_002007.1:p.(Gln2069Lys)	NC_000001.10:g.152281157G>T	(Likely) benign	1 lab	0bf0a02ab9
2:170053532 LRP2 T>G	2	170053532	170053532	T	G	LRP2	c.8587A>C	NM_004525.3	NP_004516.2:p.(Thr2863Pro)	NC_000002.11:g.170053532T>G	VUS	1 lab	0bf14f932c
15:43893077 STRC C>A	15	43893077	43893077	C	A	STRC	c.4837G>T	NM_153700.2	NP_714544.1:p.(Glu1613Ter)	NC_000015.9:g.43893077C>A	(Likely) pathogenic	1 lab	0bf24ac9ad
20:61467643 COL9A3 C>T	20	61467643	61467643	C	T	COL9A3	c.1506C>T	NM_001853.4	NP_001844.3:p.(Gly502=)	NC_000020.10:g.61467643C>T	(Likely) benign	1 lab	0bf2d120bd
X:108628507 GUCY2F C>T	X	108628507	108628507	C	T	GUCY2F	c.2961G>A	NM_001522.2	NP_001513.2:p.(Pro987=)	NC_000023.10:g.108628507C>T	(Likely) benign	1 lab	0bf2da569d
X:68749675 NALF2 G>A	X	68749675	68749675	G	A	NALF2	c.1295G>A	NM_015686.2	NP_056501.2:p.(Arg432Gln)	NC_000023.10:g.68749675G>A	VUS	1 lab	0bf3b327ea
9:79946973 VPS13A C>A	9	79946973	79946973	C	A	VPS13A	c.6039C>A	NM_033305.2	NP_150648.2:p.(Thr2013=)	NC_000009.11:g.79946973C>A	(Likely) benign	1 lab	0bf50ef8bb
3:123457826 MYLK C>T	3	123457826	123457826	C	T	MYLK	c.506G>A	NM_053025.3	NP_444253.3:p.(Arg169Gln)	NC_000003.11:g.123457826C>T	VUS	1 lab	0bf5d48084
X:148582574 IDS A>G	X	148582574	148582574	A	G	IDS	c.419-6T>C	NM_000202.7	NP_000193.1:p.?	NC_000023.10:g.148582574A>G	(Likely) benign	1 lab	0bf880a263
2:98914438 VWA3B G>A	2	98914438	98914438	G	A	VWA3B	c.3226G>A	NM_144992.4	NP_659429.4:p.(Val1076Met)	NC_000002.11:g.98914438G>A	VUS	1 lab	0bf95c22d9
1:152284551 FLG C>T	1	152284551	152284551	C	T	FLG	c.2811G>A	NM_002016.1	NP_002007.1:p.(Arg937=)	NC_000001.10:g.152284551C>T	(Likely) benign	1 lab	0bf97a76eb
5:79966136 MSH3 G>A	5	79966136	79966136	G	A	MSH3	c.792+8G>A	NM_002439.4	NP_002430.3:p.?	NC_000005.9:g.79966136G>A	(Likely) benign	1 lab	0bf9e1f4a9
14:88862516 SPATA7 G>A	14	88862516	88862516	G	A	SPATA7	c.207G>A	NM_018418.4	NP_060888.2:p.(Ser69=)	NC_000014.8:g.88862516G>A	(Likely) benign	1 lab	0bfc02198e
17:64738819 PRKCA A>G	17	64738819	64738819	A	G	PRKCA	c.1465A>G	NM_002737.2	NP_002728.1:p.(Met489Val)	NC_000017.10:g.64738819A>G	VUS	1 lab	0bfe6ba333
7:23004149 HYCC1 T>C	7	23004149	23004149	T	C	HYCC1	c.628A>G	NM_032581.3	NP_115970.2:p.(Ile210Val)	NC_000007.13:g.23004149T>C	(Likely) benign	1 lab	0c021df004
15:85401423 ALPK3 C>G	15	85401423	85401423	C	G	ALPK3	c.4060C>G	NM_020778.4	NP_065829.3:p.(Pro1354Ala)	NC_000015.9:g.85401423C>G	VUS	1 lab	0c03ea1eda
5:37226814 CPLANE1 C>T	5	37226814	37226814	C	T	CPLANE1	c.1883G>A	NM_023073.3	NP_075561.3:p.(Arg628Lys)	NC_000005.9:g.37226814C>T	(Likely) benign	1 lab	0c0609309f
3:181430224 SOX2 A>G	3	181430224	181430224	A	G	SOX2				NC_000003.11:g.181430224A>G	VUS	1 lab	314af76e3c
1:216369904 USH2A C>T	1	216369904	216369904	C	T	USH2A	c.4242G>A	NM_206933.2	NP_996816.2:p.(Ala1414=)	NC_000001.10:g.216369904C>T	(Likely) benign	1 lab	0c07414dcd
6:121768824 GJA1 C>T	6	121768824	121768824	C	T	GJA1	c.831C>T	NM_000165.5	NP_000156.1:p.(Pro277=)	NC_000006.11:g.121768824C>T	(Likely) benign	1 lab	0c07828337
X:8502385 ANOS1 C>T	X	8502385	8502385	C	T	ANOS1	c.1959G>A	NM_000216.3	NP_000207.2:p.(Pro653=)	NC_000023.10:g.8502385C>T	(Likely) benign	1 lab	0c07b19f48
13:36909884 SPART G>A	13	36909884	36909884	G	A	SPART	c.84C>T	NM_015087.5	NP_055902.1:p.(Asn28=)	NC_000013.10:g.36909884G>A	(Likely) benign	1 lab	0c092a9dca
11:67223049 CABP4 G>A	11	67223049	67223049	G	A	CABP4	c.155G>A	NM_145200.3	NP_660201.1:p.(Arg52Gln)	NC_000011.9:g.67223049G>A	VUS	1 lab	0c092e26b7
21:47808673 PCNT G>A	21	47808673	47808673	G	A	PCNT	c.3481G>A	NM_006031.5	NP_006022.3:p.(Ala1161Thr)	NC_000021.8:g.47808673G>A	(Likely) benign	1 lab	0c09b74db7
17:79477737 ACTG1 G>T	17	79477737	79477737	G	T	ACTG1	c.1107C>A	NM_001199954.2	NP_001186883.1:p.(Ile369=)	NC_000017.10:g.79477737G>T	(Likely) benign	1 lab	0c0abf25fe
5:37226619 CPLANE1 T>C	5	37226619	37226619	T	C	CPLANE1	c.2078A>G	NM_023073.3	NP_075561.3:p.(Lys693Arg)	NC_000005.9:g.37226619T>C	(Likely) benign	1 lab	0c0dd2e1fb
19:50813032 MYH14 A>C	19	50813032	50813032	A	C	MYH14	c.6096A>C	NM_001145809.1	NP_001139281.1:p.(Pro2032=)	NC_000019.9:g.50813032A>C	(Likely) benign	1 lab	0c0e64b74c
16:81211531 MISSING C>A	16	81211531	81211531	C	A	MISSING				NC_000016.9:g.81211531C>A	(Likely) benign	1 lab	0c0e794d94
2:49190624 FSHR C>T	2	49190624	49190624	C	T	FSHR	c.1336G>A	NM_000145.4	NP_000136.2:p.(Gly446Ser)	NC_000002.11:g.49190624C>T	VUS	1 lab	e19f237081
9:123874848 CNTRL C>A	9	123874848	123874848	C	A	CNTRL	c.1114C>A	NM_007018.4	NP_008949.4:p.(Pro372Thr)	NC_000009.11:g.123874848C>A	VUS	1 lab	0c13733737
13:60348363 DIAPH3 A>C	13	60348363	60348363	A	C	DIAPH3	c.3279T>G	NM_001042517.1	NP_001035982.1:p.(Ser1093Arg)	NC_000013.10:g.60348363A>C	VUS	1 lab	0c13da300b
7:44733582 OGDH C>T	7	44733582	44733582	C	T	OGDH	c.1494C>T	NM_002541.3	NP_002532.2:p.(His498=)	NC_000007.13:g.44733582C>T	(Likely) benign	1 lab	0c141670de
1:25629930 RHD G>A	1	25629930	25629930	G	A	RHD	c.919G>A	NM_001282872.1	NP_001269801.1:p.(Gly307Arg)	NC_000001.10:g.25629930G>A	VUS	1 lab	0c15ffdcf0
15:43120114 TTBK2 G>GA	15	43120114	43120119	G	GA	TTBK2	c.537+11dup	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43120119dup	(Likely) benign	1 lab	0c161c9240
11:64518809 PYGM G>C	11	64518809	64518809	G	C	PYGM	c.1693C>G	NM_001164716.1	NP_001158188.1:p.(Leu565Val)	NC_000011.9:g.64518809G>C	(Likely) benign	1 lab	0c1656863c
15:43044214 TTBK2 G>A	15	43044214	43044214	G	A	TTBK2	c.3230C>T	NM_173500.3	NP_775771.3:p.(Pro1077Leu)	NC_000015.9:g.43044214G>A	VUS	1 lab	0c16fefd56
19:43998904 PHLDB3 C>T	19	43998904	43998904	C	T	PHLDB3	c.1099G>A	NM_198850.3	NP_942147.3:p.(Ala367Thr)	NC_000019.9:g.43998904C>T	(Likely) benign	1 lab	0c1820b245
1:236850046 ACTN2 G>A	1	236850046	236850046	G	A	ACTN2	c.73G>A	NM_001103.4	NP_001094.1:p.(Glu25Lys)	NC_000001.10:g.236850046G>A	VUS	1 lab	e1a1b9f02e
X:65242219 VSIG4 G>A	X	65242219	65242219	G	A	VSIG4	c.1086C>T	NM_007268.2	NP_009199.1:p.(Cys362=)	NC_000023.10:g.65242219G>A	(Likely) benign	1 lab	0c195a098f
18:47455929 MYO5B G>A	18	47455929	47455929	G	A	MYO5B	c.2043C>T	NM_001080467.2	NP_001073936.1:p.(Cys681=)	NC_000018.9:g.47455929G>A	(Likely) benign	1 lab	0c19aca1c8
15:30699600 GOLGA8R G>A	15	30699600	30699600	G	A	GOLGA8R	c.1006C>T	NM_001282484.1	NP_001269413.1:p.(Arg336Trp)	NC_000015.9:g.30699600G>A	(Likely) benign	1 lab	0c1ac932e7
17:10538774 MYH3 G>A	17	10538774	10538774	G	A	MYH3	c.4082C>T	NM_002470.3	NP_002461.2:p.(Ala1361Val)	NC_000017.10:g.10538774G>A	VUS	1 lab	0c1be2392f
4:79373004 FRAS1 G>A	4	79373004	79373004	G	A	FRAS1	c.6542G>A	NM_025074.7	NP_079350.5:p.(Gly2181Asp)	NC_000004.11:g.79373004G>A	VUS	1 lab	e1a2d51cd1
19:19764664 ATP13A1 C>T	19	19764664	19764664	C	T	ATP13A1	c.2029G>A	NM_020410.3	NP_065143.2:p.(Glu677Lys)	NC_000019.9:g.19764664C>T	(Likely) benign	1 lab	0c1d7393d3
8:145106729 OPLAH T>G	8	145106729	145106729	T	G	OPLAH	c.3623-2A>C	NM_017570.4	NP_060040.1:p.?	NC_000008.10:g.145106729T>G	VUS	1 lab	0c1e44a341
2:44527120 SLC3A1 G>A	2	44527120	44527120	G	A	SLC3A1	c.902G>A	NM_000341.3	NP_000332.2:p.(Arg301Gln)	NC_000002.11:g.44527120G>A	(Likely) benign	1 lab	0c1f034266
3:46009352 FYCO1 G>A	3	46009352	46009352	G	A	FYCO1	c.1474C>T	NM_024513.3	NP_078789.2:p.(Arg492Trp)	NC_000003.11:g.46009352G>A	(Likely) benign	1 lab	0c20628a86
1:65878668 DNAJC6 G>T	1	65878668	65878668	G	T	DNAJC6	c.2873G>T	NM_001256864.2	NP_001243793.1:p.(Trp958Leu)	NC_000001.10:g.65878668G>T	VUS	1 lab	0c21dd17ce
15:31294891 TRPM1 G>A	15	31294891	31294891	G	A	TRPM1	c.4063C>T	NM_001252020.1	NP_001238949.1:p.(Leu1355=)	NC_000015.9:g.31294891G>A	(Likely) benign	1 lab	0c23898537
16:88781468 CTU2 C>A	16	88781468	88781468	C	A	CTU2	c.1645C>A	NM_001318507.1	NP_001305436.1:p.(Pro549Thr)	NC_000016.9:g.88781468C>A	(Likely) benign	1 lab	0c24f7e070
1:244217655 ZBTB18 G>A	1	244217655	244217655	G	A	ZBTB18	c.552G>A	NM_006352.4	NP_006343.2:p.(Trp184Ter)	NC_000001.10:g.244217655G>A	(Likely) pathogenic	1 lab	0c25b5856a
X:38156678 RPGR T>C	X	38156678	38156678	T	C	RPGR	c.1273A>G	NM_001034853.1	NP_001030025.1:p.(Arg425Gly)	NC_000023.10:g.38156678T>C	(Likely) benign	1 lab	0c26b34457
20:10386082 MKKS T>C	20	10386082	10386082	T	C	MKKS	c.1526A>G	NM_018848.3	NP_061336.1:p.(Asn509Ser)	NC_000020.10:g.10386082T>C	(Likely) benign	1 lab	0c26e42590
16:66948156 CDH16 T>C	16	66948156	66948156	T	C	CDH16	c.743A>G	NM_004062.4	NP_004053.1:p.(Glu248Gly)	NC_000016.9:g.66948156T>C	VUS	1 lab	0c26fc1f07
12:80771784 OTOGL T>C	12	80771784	80771784	T	C	OTOGL	c.6991T>C	NM_173591.3	NP_775862.3:p.(Tyr2331His)	NC_000012.11:g.80771784T>C	VUS	1 lab	0c2761a056
18:76753560 SALL3 C>T	18	76753560	76753560	C	T	SALL3	c.1569C>T	NM_171999.3	NP_741996.2:p.(Pro523=)	NC_000018.9:g.76753560C>T	(Likely) benign	1 lab	0c29b6300f
13:41382628 SLC25A15 C>T	13	41382628	41382628	C	T	SLC25A15	c.677C>T	NM_014252.3	NP_055067.1:p.(Ala226Val)	NC_000013.10:g.41382628C>T	(Likely) benign	1 lab	0c2b6b4942
22:30069466 NF2 CAGAG>C	22	30069466	30069472	CAGAG	C	NF2	c.1334_1337del	NM_000268.4	NP_000259.1:p.(Glu445GlyfsTer9)	NC_000022.10:g.30069469_30069472del	(Likely) pathogenic	1 lab	0c2ba9a3b2
4:68406761 CENPC C>T	4	68406761	68406761	C	T	CENPC	c.73G>A	NM_001812.4	NP_001803.2:p.(Asp25Asn)	NC_000004.11:g.68406761C>T	(Likely) benign	1 lab	0c2bea1e99
11:17632954 OTOG C>T	11	17632954	17632954	C	T	OTOG	c.6143C>T	NM_001277269.1	NP_001264198.1:p.(Thr2048Ile)	NC_000011.9:g.17632954C>T	(Likely) benign	1 lab	0c2c544b4a
2:238247766 COL6A3 GA>G	2	238247766	238247774	GA	G	COL6A3	c.8465-7del	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238247774del	(Likely) benign	1 lab	0c2d0d2783
16:3790430 CREBBP G>A	16	3790430	3790430	G	A	CREBBP	c.4103C>T	NM_004380.2	NP_004371.2:p.(Thr1368Met)	NC_000016.9:g.3790430G>A	(Likely) benign	1 lab	0c2f12a8a4
7:150649950 KCNH2 G>A	7	150649950	150649950	G	A	KCNH2	c.1129-9C>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150649950G>A	(Likely) benign	1 lab	0c308440dc
5:89985820 ADGRV1 AG>A	5	89985820	89985822	AG	A	ADGRV1	c.6635del	NM_032119.4	NP_115495.3:p.(Gly2212GlufsTer4)	NC_000005.9:g.89985822del	(Likely) pathogenic	1 lab	0c3108f30b
20:34095857 CEP250 C>T	20	34095857	34095857	C	T	CEP250	c.6751-7C>T	NM_007186.5	NP_009117.2:p.?	NC_000020.10:g.34095857C>T	(Likely) benign	1 lab	0c31e03b9e
11:406459 SIGIRR G>A	11	406459	406459	G	A	SIGIRR	c.959C>T	NM_001135054.2	NP_001128526.1:p.(Pro320Leu)	NC_000011.9:g.406459G>A	(Likely) benign	1 lab	0c3382ba6f
2:179430560 TTN C>T	2	179430560	179430560	C	T	TTN	c.80299G>A	NM_001267550.2	NP_001254479.2:p.(Val26767Ile)	NC_000002.11:g.179430560C>T	VUS	1 lab	e1a4d7df21
6:152650875 SYNE1 C>T	6	152650875	152650875	C	T	SYNE1	c.14945G>A	NM_182961.3	NP_892006.3:p.(Arg4982His)	NC_000006.11:g.152650875C>T	(Likely) benign	1 lab	0c369b1c0a
X:148797560 MAGEA11 A>C	X	148797560	148797560	A	C	MAGEA11	c.414A>C	NM_005366.5	NP_005357.2:p.(Ala138=)	NC_000023.10:g.148797560A>C	(Likely) benign	1 lab	0c394da441
13:32906768 BRCA2 A>T	13	32906768	32906768	A	T	BRCA2	c.1153A>T	NM_000059.4	NP_000050.3:p.(Lys385Ter)	NC_000013.10:g.32906768A>T	(Likely) pathogenic	1 lab	e1a500a16a
1:47691568 TAL1 GCAGA>G	1	47691568	47691582	GCAGA	G	TAL1	c.-1-11_-1-8del	NM_003189.5	NP_003180.1:p.?	NC_000001.10:g.47691579_47691582del	(Likely) benign	1 lab	e1a742e60d
10:73767293 CHST3 C>T	10	73767293	73767293	C	T	CHST3	c.504C>T	NM_004273.4	NP_004264.2:p.(Ile168=)	NC_000010.10:g.73767293C>T	(Likely) benign	1 lab	0c3e558e6e
16:67654643 CTCF G>A	16	67654643	67654643	G	A	CTCF	c.1130G>A	NM_006565.3	NP_006556.1:p.(Arg377His)	NC_000016.9:g.67654643G>A	(Likely) pathogenic	1 lab	0c3f21623e
18:10789183 PIEZO2 A>G	18	10789183	10789183	A	G	PIEZO2	c.2063T>C	NM_022068.4	NP_071351.2:p.(Ile688Thr)	NC_000018.9:g.10789183A>G	VUS	1 lab	e1a90e293a
14:64421502 SYNE2 T>C	14	64421502	64421502	T	C	SYNE2	c.656T>C	NM_182914.2	NP_878918.2:p.(Ile219Thr)	NC_000014.8:g.64421502T>C	VUS	1 lab	0c3fed4499
18:57364449 CCBE1 G>A	18	57364449	57364449	G	A	CCBE1	c.126C>T	NM_133459.4	NP_597716.1:p.(Gly42=)	NC_000018.9:g.57364449G>A	(Likely) benign	1 lab	0c4015a9b4
10:101489421 COX15 C>T	10	101489421	101489421	C	T	COX15	c.161G>A	NM_078470.4	NP_510870.1:p.(Gly54Glu)	NC_000010.10:g.101489421C>T	VUS	1 lab	0c415a2e03
2:170012824 LRP2 C>T	2	170012824	170012824	C	T	LRP2	c.12111G>A	NM_004525.3	NP_004516.2:p.(Thr4037=)	NC_000002.11:g.170012824C>T	(Likely) benign	1 lab	0c42a1bb35
14:75516289 MLH3 G>C	14	75516289	75516289	G	C	MLH3	c.70C>G	NM_001040108.1	NP_001035197.1:p.(Gln24Glu)	NC_000014.8:g.75516289G>C	VUS	1 lab	0c42b56fe1
22:18300603 MICAL3 C>T	22	18300603	18300603	C	T	MICAL3	c.4824G>A	NM_015241.3	NP_056056.2:p.(Ala1608=)	NC_000022.10:g.18300603C>T	(Likely) benign	1 lab	0c42fdebc6
6:33747911 LEMD2 A>T	6	33747911	33747911	A	T	LEMD2	c.976T>A	NM_181336.3	NP_851853.1:p.(Trp326Arg)	NC_000006.11:g.33747911A>T	VUS	1 lab	0c43a945c8
19:35803238 MAG G>A	19	35803238	35803238	G	A	MAG	c.*12+10G>A	NM_080600.2	NP_542167.1:p.?	NC_000019.9:g.35803238G>A	(Likely) benign	1 lab	0c43edd524
17:29560148 NF1 G>T	17	29560148	29560148	G	T	NF1	c.3625G>T	NM_000267.3	NP_000258.1:p.(Val1209Leu)	NC_000017.10:g.29560148G>T	VUS	1 lab	e1acbbb3df
17:67257889 ABCA5 C>T	17	67257889	67257889	C	T	ABCA5	c.3316G>A	NM_018672.4	NP_061142.2:p.(Val1106Ile)	NC_000017.10:g.67257889C>T	(Likely) benign	1 lab	0c4603122d
5:37059272 NIPBL G>C	5	37059272	37059272	G	C	NIPBL	c.7685+5G>C	NM_015384.4	NP_056199.2:p.?	NC_000005.9:g.37059272G>C	VUS	1 lab	1ca20a2e60
2:201354843 KCTD18 C>T	2	201354843	201354843	C	T	KCTD18	c.1261G>A	NM_152387.4	NP_689600.2:p.(Gly421Arg)	NC_000002.11:g.201354843C>T	VUS	1 lab	0c4774b78b
3:159976432 IFT80 G>GA	3	159976432	159976442	G	GA	IFT80	c.2224-10dup	NM_020800.2	NP_065851.1:p.?	NC_000003.11:g.159976442dup	(Likely) benign	1 lab	0c49868c81
5:90101158 ADGRV1 G>T	5	90101158	90101158	G	T	ADGRV1	c.14719G>T	NM_032119.4	NP_115495.3:p.(Val4907Phe)	NC_000005.9:g.90101158G>T	VUS	1 lab	e1add4a489
14:91808716 CCDC88C G>A	14	91808716	91808716	G	A	CCDC88C	c.483+8C>T	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91808716G>A	(Likely) benign	1 lab	0c4cd26207
2:28855877 PLB1 G>A	2	28855877	28855877	G	A	PLB1	c.4069G>A	NM_153021.4	NP_694566.4:p.(Glu1357Lys)	NC_000002.11:g.28855877G>A	VUS	1 lab	0c4ddfac5f
6:152489294 SYNE1 T>C	6	152489294	152489294	T	C	SYNE1	c.23628-3834A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152489294T>C	(Likely) benign	1 lab	e1aeb3e6d1
8:95837112 INTS8 A>G	8	95837112	95837112	A	G	INTS8	c.131-9A>G	NM_017864.3	NP_060334.2:p.?	NC_000008.10:g.95837112A>G	(Likely) benign	1 lab	0c50732e4e
15:25601050 UBE3A C>A	15	25601050	25601050	C	A	UBE3A	c.2053G>T	NM_130838.1	NP_570853.1:p.(Glu685Ter)	NC_000015.9:g.25601050C>A	(Likely) pathogenic	1 lab	0c513c9ef2
3:89499364 EPHA3 C>A	3	89499364	89499364	C	A	EPHA3	c.2534C>A	NM_005233.5	NP_005224.2:p.(Pro845His)	NC_000003.11:g.89499364C>A	VUS	1 lab	0c51df8f47
9:894166 DMRT1 G>A	9	894166	894166	G	A	DMRT1	c.793G>A	NM_021951.2	NP_068770.2:p.(Val265Met)	NC_000009.11:g.894166G>A	(Likely) benign	1 lab	0c5339ec08
6:30303636 TRIM39 A>G	6	30303636	30303636	A	G	TRIM39	c.664A>G	NM_172016.2	NP_742013.1:p.(Ile222Val)	NC_000006.11:g.30303636A>G	VUS	1 lab	0c54a2ba53
1:39549925 MACF1 G>A	1	39549925	39549925	G	A	MACF1	c.35G>A	NM_012090.5	NP_036222.3:p.(Arg12Gln)	NC_000001.10:g.39549925G>A	(Likely) benign	1 lab	e1b163bb2e
11:47353737 MYBPC3 CCT>C	11	47353737	47353739	CCT	C	MYBPC3	c.3698_3699del	NM_000256.3	NP_000247.2:p.(Gln1233ArgfsTer8)	NC_000011.9:g.47353738_47353739del	(Likely) pathogenic	1 lab	0c55e1c0c3
9:131394958 SPTAN1 C>G	9	131394958	131394958	C	G	SPTAN1	c.7121C>G	NM_001130438.3	NP_001123910.1:p.(Pro2374Arg)	NC_000009.11:g.131394958C>G	VUS	1 lab	e1b55ee7bd
5:176520283 FGFR4 G>C	5	176520283	176520283	G	C	FGFR4	c.1202G>C	NM_213647.2	NP_998812.1:p.(Arg401Pro)	NC_000005.9:g.176520283G>C	(Likely) benign	1 lab	0c571adfe5
20:13773854 NDUFAF5 A>G	20	13773854	13773854	A	G	NDUFAF5	c.356A>G	NM_024120.4	NP_077025.2:p.(Asp119Gly)	NC_000020.10:g.13773854A>G	VUS	1 lab	0c57bbe7a5
6:154411170 OPRM1 G>A	6	154411170	154411170	G	A	OPRM1	c.200G>A	NM_001145287.2	NP_001138759.1:p.(Arg67Gln)	NC_000006.11:g.154411170G>A	VUS	1 lab	0c58833fe5
X:41448815 CASK G>A	X	41448815	41448815	G	A	CASK	c.1186C>T	NM_001367721.1	NP_001354650.1:p.(Pro396Ser)	NC_000023.10:g.41448815G>A	(Likely) benign	1 lab	0c59c54228
3:38620923 SCN5A C>A	3	38620923	38620923	C	A	SCN5A	c.3292G>T	NM_198056.3	NP_932173.1:p.(Val1098Leu)	NC_000003.11:g.38620923C>A	VUS	1 lab	e1b9fdc83f
1:3751634 CEP104 G>A	1	3751634	3751634	G	A	CEP104	c.1340C>T	NM_014704.3	NP_055519.1:p.(Thr447Met)	NC_000001.10:g.3751634G>A	VUS	1 lab	0c75c263f0
2:208993135 CRYGC C>T	2	208993135	208993135	C	T	CRYGC	c.317G>A	NM_020989.3	NP_066269.1:p.(Ser106Asn)	NC_000002.11:g.208993135C>T	(Likely) benign	1 lab	0c5bf50e33
X:11135439 HCCS C>T	X	11135439	11135439	C	T	HCCS	c.305C>T	NM_005333.5	NP_005324.3:p.(Thr102Ile)	NC_000023.10:g.11135439C>T	VUS	1 lab	e1bd8cf6cc
X:41333644 NYX G>A	X	41333644	41333644	G	A	NYX	c.938G>A	NM_022567.2	NP_072089.1:p.(Arg313His)	NC_000023.10:g.41333644G>A	(Likely) benign	1 lab	0c60987bfb
10:96336485 HELLS C>T	10	96336485	96336485	C	T	HELLS	c.955C>T	NM_001289067.1	NP_001275996.1:p.(Arg319Trp)	NC_000010.10:g.96336485C>T	VUS	1 lab	0c60c683ef
4:88536602 DSPP A>G	4	88536602	88536602	A	G	DSPP	c.2788A>G	NM_014208.3	NP_055023.2:p.(Ser930Gly)	NC_000004.11:g.88536602A>G	(Likely) benign	1 lab	0c6277e04f
14:65220374 SPTB G>A	14	65220374	65220374	G	A	SPTB	c.6483C>T	NM_001024858.3	NP_001020029.1:p.(Ser2161=)	NC_000014.8:g.65220374G>A	(Likely) benign	1 lab	0c62c886ba
2:233321662 ALPI C>A	2	233321662	233321662	C	A	ALPI	c.354C>A	NM_001631.5	NP_001622.2:p.(Tyr118Ter)	NC_000002.11:g.233321662C>A	VUS	1 lab	0c6431a6e4
20:17477578 BFSP1 G>A	20	17477578	17477578	G	A	BFSP1	c.1042+5C>T	NM_001195.4	NP_001186.1:p.?	NC_000020.10:g.17477578G>A	(Likely) benign	1 lab	0c64e6368b
16:77393284 ADAMTS18 C>T	16	77393284	77393284	C	T	ADAMTS18	c.737G>A	NM_001326358.1	NP_001313287.1:p.(Arg246Gln)	NC_000016.9:g.77393284C>T	VUS	1 lab	0c67625348
1:44360114 ST3GAL3 G>A	1	44360114	44360114	G	A	ST3GAL3	c.83G>A	NM_001350621.1	NP_001337550.1:p.(Arg28Gln)	NC_000001.10:g.44360114G>A	VUS	1 lab	0c67ccaf41
X:122387164 GRIA3 G>T	X	122387164	122387164	G	T	GRIA3	c.279G>T	NM_000828.4	NP_000819.3:p.(Gln93His)	NC_000023.10:g.122387164G>T	VUS	1 lab	0c68c31d1e
12:49444143 KMT2D C>G	12	49444143	49444143	C	G	KMT2D	c.3228G>C	NM_003482.4	NP_003473.3:p.(Glu1076Asp)	NC_000012.11:g.49444143C>G	VUS	1 lab	e1bd947c31
10:69881299 MYPN C>T	10	69881299	69881299	C	T	MYPN	c.104C>T	NM_032578.3	NP_115967.2:p.(Ala35Val)	NC_000010.10:g.69881299C>T	VUS	1 lab	0c69d13d70
16:2134948 TSC2 GCA>G	16	2134948	2134950	GCA	G	TSC2	c.4494-3_4494-2del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134949_2134950del	(Likely) pathogenic	1 lab	0c69ffe591
4:187201454 F11 G>A	4	187201454	187201454	G	A	F11	c.943G>A	NM_000128.3	NP_000119.1:p.(Glu315Lys)	NC_000004.11:g.187201454G>A	(Likely) benign	1 lab	0c6a12c3a6
22:37273696 NCF4 C>T	22	37273696	37273696	C	T	NCF4	c.851C>T	NM_000631.5	NP_000622.2:p.(Ala284Val)	NC_000022.10:g.37273696C>T	VUS	1 lab	0c6b541d28
2:21227547 APOB A>G	2	21227547	21227547	A	G	APOB	c.11789T>C	NM_000384.2	NP_000375.2:p.(Val3930Ala)	NC_000002.11:g.21227547A>G	VUS	1 lab	0c6b862355
X:66905857 AR C>T	X	66905857	66905857	C	T	AR	c.1774C>T	NM_000044.4	NP_000035.2:p.(Gln592Ter)	NC_000023.10:g.66905857C>T	(Likely) pathogenic	1 lab	0c6c8fb33a
X:31747775 DMD C>T	X	31747775	31747775	C	T	DMD	c.7264G>A	NM_004010.3	NP_004001.1:p.(Glu2422Lys)	NC_000023.10:g.31747775C>T	VUS	1 lab	0c6cc2d85f
X:154158084 F8 C>T	X	154158084	154158084	C	T	F8	c.3981G>A	NM_000132.3	NP_000123.1:p.(Thr1327=)	NC_000023.10:g.154158084C>T	(Likely) benign	1 lab	0c6ddd7674
22:46749726 TRMU G>A	22	46749726	46749726	G	A	TRMU	c.835G>A	NM_018006.4	NP_060476.2:p.(Val279Met)	NC_000022.10:g.46749726G>A	VUS	1 lab	0c6e16fbf2
1:11829063 C1orf167 C>T	1	11829063	11829063	C	T	C1orf167	c.1576C>T	NM_001010881.1	NP_001010881.1:p.(Gln526Ter)	NC_000001.10:g.11829063C>T	VUS	1 lab	0c6f88d379
1:94495073 ABCA4 C>A	1	94495073	94495073	C	A	ABCA4	c.4467G>T	NM_000350.2	NP_000341.2:p.(Arg1489Ser)	NC_000001.10:g.94495073C>A	VUS	1 lab	0c70839cd6
17:48145475 ITGA3 G>A	17	48145475	48145475	G	A	ITGA3	c.470G>A	NM_002204.3	NP_002195.1:p.(Arg157His)	NC_000017.10:g.48145475G>A	VUS	1 lab	0c71a0c2d4
1:12328824 VPS13D C>T	1	12328824	12328824	C	T	VPS13D	c.1863C>T	NM_015378.4	NP_056193.2:p.(His621=)	NC_000001.10:g.12328824C>T	(Likely) benign	1 lab	0c71b6ae24
16:70908251 HYDIN G>A	16	70908251	70908251	G	A	HYDIN	c.10905C>T	NM_001270974.2	NP_001257903.1:p.(Phe3635=)	NC_000016.9:g.70908251G>A	(Likely) benign	1 lab	0c726d78a5
7:146818176 CNTNAP2 G>A	7	146818176	146818176	G	A	CNTNAP2	c.860G>A	NM_014141.6	NP_054860.1:p.(Ser287Asn)	NC_000007.13:g.146818176G>A	(Likely) benign	1 lab	e1be065517
3:119121001 ARHGAP31 A>G	3	119121001	119121001	A	G	ARHGAP31	c.1402A>G	NM_020754.3	NP_065805.2:p.(Ser468Gly)	NC_000003.11:g.119121001A>G	(Likely) benign	1 lab	0c7649baad
10:112350241 SMC3 T>C	10	112350241	112350241	T	C	SMC3	c.1581T>C	NM_005445.3	NP_005436.1:p.(His527=)	NC_000010.10:g.112350241T>C	(Likely) benign	1 lab	0c77ad10d1
6:3225549 TUBB2B C>T	6	3225549	3225549	C	T	TUBB2B	c.774G>A	NM_178012.4	NP_821080.1:p.(Val258=)	NC_000006.11:g.3225549C>T	(Likely) benign	1 lab	0c77cb4a08
1:197059366 ASPM A>C	1	197059366	197059366	A	C	ASPM	c.9789T>G	NM_018136.5	NP_060606.3:p.(Tyr3263Ter)	NC_000001.10:g.197059366A>C	(Likely) pathogenic	1 lab	e1be5f970b
5:45396677 HCN1 C>T	5	45396677	45396677	C	T	HCN1	c.1147G>A	NM_021072.4	NP_066550.2:p.(Ala383Thr)	NC_000005.9:g.45396677C>T	VUS	1 lab	e1bf2c858c
14:23895156 MYH7 T>G	14	23895156	23895156	T	G	MYH7	c.2162+17A>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23895156T>G	(Likely) benign	1 lab	e1c0ee0b4d
17:12905679 ELAC2 G>GA	17	12905679	12905682	G	GA	ELAC2	c.1219-4dup	NM_018127.6	NP_060597.4:p.?	NC_000017.10:g.12905682dup	(Likely) benign	1 lab	0c7c3673b4
X:133986851 PABIR3 A>G	X	133986851	133986851	A	G	PABIR3	c.367A>G	NM_001170779.1	NP_001164250.1:p.(Asn123Asp)	NC_000023.10:g.133986851A>G	(Likely) benign	1 lab	0c7f4d81b4
5:34941288 DNAJC21 C>A	5	34941288	34941288	C	A	DNAJC21	c.983C>A	NM_194283.3	NP_919259.3:p.(Ala328Asp)	NC_000005.9:g.34941288C>A	VUS	1 lab	0c7fdfb412
17:18054230 MYO15A G>A	17	18054230	18054230	G	A	MYO15A	c.7473+3G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18054230G>A	(Likely) benign	1 lab	0c805d0944
10:54074381 DKK1 G>A	10	54074381	54074381	G	A	DKK1	c.187G>A	NM_012242.4	NP_036374.1:p.(Ala63Thr)	NC_000010.10:g.54074381G>A	VUS	1 lab	0c8101db19
22:50280138 ZBED4 C>T	22	50280138	50280138	C	T	ZBED4	c.2828C>T	NM_014838.3	NP_055653.2:p.(Ala943Val)	NC_000022.10:g.50280138C>T	VUS	1 lab	0c81987b1e
6:32012816 TNXB G>A	6	32012816	32012816	G	A	TNXB	c.10888C>T	NM_019105.6	NP_061978.6:p.(Arg3630Cys)	NC_000006.11:g.32012816G>A	VUS	1 lab	0c81a2a2ee
17:39913663 JUP TCA>T	17	39913663	39913667	TCA	T	JUP	c.2046+2_2046+3del	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39913666_39913667del	VUS	1 lab	0c82b024ba
1:226027578 EPHX1 C>G	1	226027578	226027578	C	G	EPHX1	c.771C>G	NM_001291163.1	NP_001278092.1:p.(Phe257Leu)	NC_000001.10:g.226027578C>G	(Likely) benign	1 lab	0c82b7b766
6:132211535 ENPP1 C>T	6	132211535	132211535	C	T	ENPP1	c.2662C>T	NM_006208.3	NP_006199.2:p.(Arg888Trp)	NC_000006.11:g.132211535C>T	(Likely) pathogenic	1 lab	e1c2aac145
1:17313594 ATP13A2 G>A	1	17313594	17313594	G	A	ATP13A2	c.3015C>T	NM_001141973.2	NP_001135445.1:p.(Val1005=)	NC_000001.10:g.17313594G>A	(Likely) benign	1 lab	0c83176719
10:88477867 LDB3 C>T	10	88477867	88477867	C	T	LDB3	c.1838C>T	NM_001171610.2	NP_001165081.1:p.(Pro613Leu)	NC_000010.10:g.88477867C>T	VUS	1 lab	e1c2f209cd
19:1470023 APC2 C>T	19	1470023	1470023	C	T	APC2	c.6723C>T	NM_005883.2	NP_005874.1:p.(Ser2241=)	NC_000019.9:g.1470023C>T	(Likely) benign	1 lab	0c83839eec
16:22132379 VWA3A T>A	16	22132379	22132379	T	A	VWA3A	c.1207T>A	NM_173615.4	NP_775886.3:p.(Leu403Met)	NC_000016.9:g.22132379T>A	VUS	1 lab	0c86c54f2e
7:158449079 NCAPG2 G>A	7	158449079	158449079	G	A	NCAPG2	c.2261C>T	NM_017760.7	NP_060230.5:p.(Pro754Leu)	NC_000007.13:g.158449079G>A	VUS	1 lab	e1c3be4b49
16:57171116 CPNE2 C>T	16	57171116	57171116	C	T	CPNE2	c.1224C>T	NM_152727.6	NP_689940.3:p.(Tyr408=)	NC_000016.9:g.57171116C>T	(Likely) benign	1 lab	0c87d34ae8
1:57756635 DAB1 C>A	1	57756635	57756635	C	A	DAB1	c.67+1G>T	NM_021080.4	NP_066566.3:p.?	NC_000001.10:g.57756635C>A	(Likely) pathogenic	1 lab	0c88464e2c
6:91296502 MAP3K7 T>G	6	91296502	91296502	T	G	MAP3K7	c.101A>C	NM_145331.3	NP_663304.1:p.(Lys34Thr)	NC_000006.11:g.91296502T>G	VUS	1 lab	e1c5fa2519
11:59611361 CBLIF C>T	11	59611361	59611361	C	T	CBLIF	c.247G>A	NM_005142.3	NP_005133.2:p.(Asp83Asn)	NC_000011.9:g.59611361C>T	(Likely) benign	1 lab	e1c74303bf
19:36228119 KMT2B C>T	19	36228119	36228119	C	T	KMT2B	c.7505C>T	NM_014727.2	NP_055542.1:p.(Pro2502Leu)	NC_000019.9:g.36228119C>T	(Likely) benign	1 lab	0c89bc6523
5:37157843 CPLANE1 G>A	5	37157843	37157843	G	A	CPLANE1	c.7886C>T	NM_023073.3	NP_075561.3:p.(Ser2629Leu)	NC_000005.9:g.37157843G>A	VUS	1 lab	0c8a631b5f
4:15539514 CC2D2A C>G	4	15539514	15539514	C	G	CC2D2A	c.1765-8C>G	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15539514C>G	VUS	1 lab	0c8fd77bad
15:62276135 VPS13C T>C	15	62276135	62276135	T	C	VPS13C	c.1798A>G	NM_001018088.2	NP_001018098.1:p.(Ile600Val)	NC_000015.9:g.62276135T>C	(Likely) benign	1 lab	0c90157490
17:29557285 NF1 C>T	17	29557285	29557285	C	T	NF1	c.2998C>T	NM_000267.3	NP_000258.1:p.(Arg1000Cys)	NC_000017.10:g.29557285C>T	(Likely) pathogenic	1 lab	0c979f2c1f
X:149639582 MAMLD1 G>A	X	149639582	149639582	G	A	MAMLD1	c.1737G>A	NM_005491.4	NP_005482.2:p.(Thr579=)	NC_000023.10:g.149639582G>A	(Likely) benign	1 lab	0c9890e7e1
10:99517451 ZFYVE27 A>G	10	99517451	99517451	A	G	ZFYVE27	c.1142A>G	NM_144588.6	NP_653189.3:p.(Lys381Arg)	NC_000010.10:g.99517451A>G	VUS	1 lab	0c99353089
3:124515491 ITGB5 G>A	3	124515491	124515491	G	A	ITGB5	c.1437C>T	NM_002213.5	NP_002204.2:p.(Ser479=)	NC_000003.11:g.124515491G>A	(Likely) benign	1 lab	0c9a1340a1
16:89986081 MC1R G>A	16	89986081	89986081	G	A	MC1R	c.415G>A	NM_002386.3	NP_002377.4:p.(Ala139Thr)	NC_000016.9:g.89986081G>A	VUS	1 lab	0c9d149311
1:94526097 ABCA4 A>G	1	94526097	94526097	A	G	ABCA4	c.2156T>C	NM_000350.2	NP_000341.2:p.(Ile719Thr)	NC_000001.10:g.94526097A>G	VUS	1 lab	0c9d8b06df
11:103128460 DYNC2H1 C>T	11	103128460	103128460	C	T	DYNC2H1	c.10606C>T	NM_001080463.1	NP_001073932.1:p.(Arg3536Ter)	NC_000011.9:g.103128460C>T	(Likely) pathogenic	1 lab	0c9f5a8865
17:37884217 ERBB2 CG>C	17	37884217	37884223	CG	C	ERBB2	c.3694del	NM_004448.4	NP_004439.2:p.(Ala1232LeufsTer70)	NC_000017.10:g.37884223del	VUS	1 lab	0ca0cffedc
1:3761855 CEP104 T>G	1	3761855	3761855	T	G	CEP104	c.487A>C	NM_014704.3	NP_055519.1:p.(Thr163Pro)	NC_000001.10:g.3761855T>G	(Likely) benign	1 lab	0ca141ea13
9:71679911 FXN CA>C	9	71679911	71679912	CA	C	FXN	c.443del	NM_000144.5	NP_000135.2:p.(Gln148ArgfsTer47)	NC_000009.11:g.71679912del	(Likely) pathogenic	1 lab	0ca27454d3
17:58234017 CA4 T>G	17	58234017	58234017	T	G	CA4	c.209T>G	NM_000717.4	NP_000708.1:p.(Phe70Cys)	NC_000017.10:g.58234017T>G	VUS	1 lab	0ca2954a30
22:38120925 TRIOBP C>T	22	38120925	38120925	C	T	TRIOBP	c.2362C>T	NM_001039141.2	NP_001034230.1:p.(Arg788Ter)	NC_000022.10:g.38120925C>T	(Likely) pathogenic	1 lab	0ca2bc72c5
7:128845522 SMO C>T	7	128845522	128845522	C	T	SMO	c.819C>T	NM_005631.4	NP_005622.1:p.(Cys273=)	NC_000007.13:g.128845522C>T	(Likely) benign	1 lab	0ca3d94e2e
12:65130785 GNS T>C	12	65130785	65130785	T	C	GNS	c.1097A>G	NM_002076.3	NP_002067.1:p.(Lys366Arg)	NC_000012.11:g.65130785T>C	(Likely) pathogenic	1 lab	0ca3e9ec69
17:43552478 PLEKHM1 C>T	17	43552478	43552478	C	T	PLEKHM1	c.911G>A	NM_014798.2	NP_055613.1:p.(Arg304Gln)	NC_000017.10:g.43552478C>T	(Likely) benign	1 lab	0ca4ae59e5
16:8904956 PMM2 G>T	16	8904956	8904956	G	T	PMM2	c.368G>T	NM_000303.2	NP_000294.1:p.(Arg123Leu)	NC_000016.9:g.8904956G>T	VUS	1 lab	0ca50c3005
2:85779674 GGCX C>T	2	85779674	85779674	C	T	GGCX	c.1304G>A	NM_000821.6	NP_000812.2:p.(Arg435Gln)	NC_000002.11:g.85779674C>T	VUS	1 lab	0ca8f5f51c
13:50126395 RCBTB1 G>A	13	50126395	50126395	G	A	RCBTB1	c.51C>T	NM_001352506.1	NP_001339435.1:p.(Asn17=)	NC_000013.10:g.50126395G>A	(Likely) benign	1 lab	0ca910e679
X:147014246 FMR1 G>T	X	147014246	147014246	G	T	FMR1	c.844G>T	NM_002024.5	NP_002015.1:p.(Ala282Ser)	NC_000023.10:g.147014246G>T	VUS	1 lab	0ca9aa0d0c
X:53223903 KDM5C C>T	X	53223903	53223903	C	T	KDM5C	c.3456G>A	NM_004187.3	NP_004178.2:p.(Glu1152=)	NC_000023.10:g.53223903C>T	(Likely) benign	1 lab	0ca9ab0930
10:85992164 LRIT1 G>A	10	85992164	85992164	G	A	LRIT1	c.1391C>T	NM_015613.2	NP_056428.1:p.(Ala464Val)	NC_000010.10:g.85992164G>A	VUS	1 lab	0caa9f2106
3:183898715 AP2M1 C>T	3	183898715	183898715	C	T	AP2M1	c.508C>T	NM_004068.4	NP_004059.2:p.(Arg170Trp)	NC_000003.11:g.183898715C>T	VUS	1 lab	0cab34ea6c
22:42606744 TCF20 G>A	22	42606744	42606744	G	A	TCF20	c.4568C>T	NM_005650.3	NP_005641.1:p.(Pro1523Leu)	NC_000022.10:g.42606744G>A	VUS	1 lab	0cad85c318
10:50667021 ERCC6 G>A	10	50667021	50667021	G	A	ERCC6	c.4322C>T	NM_000124.2	NP_000115.1:p.(Thr1441Ile)	NC_000010.10:g.50667021G>A	(Likely) benign	1 lab	0cadd70992
16:2110747 TSC2 A>G	16	2110747	2110747	A	G	TSC2	c.1052A>G	NM_000548.3	NP_000539.2:p.(Lys351Arg)	NC_000016.9:g.2110747A>G	VUS	1 lab	0cb47de095
20:62626428 PRPF6 G>C	20	62626428	62626428	G	C	PRPF6	c.598G>C	NM_012469.3	NP_036601.2:p.(Val200Leu)	NC_000020.10:g.62626428G>C	VUS	1 lab	0cb4b4afa4
7:66456143 SBDS T>C	7	66456143	66456143	T	C	SBDS	c.605A>G	NM_016038.2	NP_057122.2:p.(Tyr202Cys)	NC_000007.13:g.66456143T>C	VUS	1 lab	0cb6fcf6c8
11:2906474 CDKN1C C>T	11	2906474	2906474	C	T	CDKN1C	c.246G>A	NM_000076.2	NP_000067.1:p.(Val82=)	NC_000011.9:g.2906474C>T	(Likely) benign	1 lab	0cb714953a
19:17397485 ANKLE1 GTGTGTGTGTGTGTGTT>G	19	17397485	17397516	GTGTGTGTGTGTGTGTT	G	ANKLE1	c.*140_*155del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501_17397516del	(Likely) benign	1 lab	0cb7b1d4ee
X:24844582 POLA1 G>A	X	24844582	24844582	G	A	POLA1	c.3600G>A	NM_001330360.1	NP_001317289.1:p.(Ala1200=)	NC_000023.10:g.24844582G>A	(Likely) benign	1 lab	0cb89993f9
7:117182190 CFTR C>T	7	117182190	117182190	C	T	CFTR	c.1209+28C>T	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117182190C>T	(Likely) benign	1 lab	0cb8b1e305
1:3301844 PRDM16 T>G	1	3301844	3301844	T	G	PRDM16	c.567T>G	NM_022114.3	NP_071397.3:p.(Ser189Arg)	NC_000001.10:g.3301844T>G	VUS	1 lab	0cb91f1e63
15:91298049 BLM A>G	15	91298049	91298049	A	G	BLM	c.968A>G	NM_001287246.1	NP_001274175.1:p.(Lys323Arg)	NC_000015.9:g.91298049A>G	VUS	1 lab	0cb972346b
6:144750873 UTRN T>C	6	144750873	144750873	T	C	UTRN	c.851T>C	NM_007124.2	NP_009055.2:p.(Ile284Thr)	NC_000006.11:g.144750873T>C	(Likely) benign	1 lab	0cb9fd4991
2:73676504 ALMS1 G>A	2	73676504	73676504	G	A	ALMS1	c.2853G>A	NM_015120.4	NP_055935.4:p.(Val951=)	NC_000002.11:g.73676504G>A	(Likely) benign	1 lab	0cbac0712b
3:147128364 ZIC1 G>T	3	147128364	147128364	G	T	ZIC1	c.465G>T	NM_003412.3	NP_003403.2:p.(Ser155=)	NC_000003.11:g.147128364G>T	(Likely) benign	1 lab	0cbcdcfcdf
3:113114700 CFAP44 T>C	3	113114700	113114700	T	C	CFAP44	c.1787A>G	NM_001164496.2	NP_001157968.1:p.(Asp596Gly)	NC_000003.11:g.113114700T>C	VUS	1 lab	0cbe1a7a81
21:46915256 COL18A1 C>G	21	46915256	46915256	C	G	COL18A1	c.2434-16C>G	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46915256C>G	(Likely) benign	1 lab	0cbec51d22
15:89876827 POLGARF TTGCTGCTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGCTGCTGC	T	POLGARF	c.196_213del	NM_001430120.1	NP_001417049.1:p.(Ala66_Ala71del)	NC_000015.9:g.89876843_89876860del	VUS	1 lab	0cbf5862dc
15:43892807 STRC G>A	15	43892807	43892807	G	A	STRC	c.4918C>T	NM_153700.2	NP_714544.1:p.(Leu1640Phe)	NC_000015.9:g.43892807G>A	(Likely) pathogenic	1 lab	0cc0e5f05a
4:110772995 LRIT3 A>G	4	110772995	110772995	A	G	LRIT3	c.452A>G	NM_198506.4	NP_940908.3:p.(Tyr151Cys)	NC_000004.11:g.110772995A>G	VUS	1 lab	0cc171d532
16:27441374 IL21R C>G	16	27441374	27441374	C	G	IL21R	c.51-3C>G	NM_181079.4	NP_851565.4:p.?	NC_000016.9:g.27441374C>G	VUS	1 lab	0cc30d7578
17:29553569 NF1 CA>C	17	29553569	29553570	CA	C	NF1	c.2119del	NM_001042492.3	NP_001035957.1:p.(Met707CysfsTer41)	NC_000017.10:g.29553570del	(Likely) pathogenic	1 lab	0cc391cfd3
19:36212634 KMT2B C>T	19	36212634	36212634	C	T	KMT2B	c.2385C>T	NM_014727.2	NP_055542.1:p.(Leu795=)	NC_000019.9:g.36212634C>T	(Likely) benign	1 lab	0cc4c7c6f2
X:79699167 TENT5D T>C	X	79699167	79699167	T	C	TENT5D	c.1129T>C	NM_001170574.1	NP_001164045.1:p.(Tyr377His)	NC_000023.10:g.79699167T>C	(Likely) benign	1 lab	0cc501bd0f
1:109440725 GPSM2 T>C	1	109440725	109440725	T	C	GPSM2	c.557+2T>C	NM_001321039.1	NP_001307968.1:p.?	NC_000001.10:g.109440725T>C	(Likely) pathogenic	1 lab	0cc54dfe17
18:7026103 LAMA1 C>T	18	7026103	7026103	C	T	LAMA1	c.2277G>A	NM_005559.3	NP_005550.2:p.(Ala759=)	NC_000018.9:g.7026103C>T	(Likely) benign	1 lab	0cc645514c
6:31912773 C2 A>G	6	31912773	31912773	A	G	C2	c.1959A>G	NM_001282458.1	NP_001269387.1:p.(Ala653=)	NC_000006.11:g.31912773A>G	(Likely) benign	1 lab	0cc64836a5
4:88536457 DSPP T>C	4	88536457	88536457	T	C	DSPP	c.2643T>C	NM_014208.3	NP_055023.2:p.(Asp881=)	NC_000004.11:g.88536457T>C	(Likely) benign	1 lab	0cc7103bfc
3:9517369 SETD5 C>T	3	9517369	9517369	C	T	SETD5	c.3923C>T	NM_001080517.2	NP_001073986.1:p.(Thr1308Ile)	NC_000003.11:g.9517369C>T	(Likely) benign	1 lab	0cc8b05d62
20:2640214 IDH3B C>A	20	2640214	2640214	C	A	IDH3B	c.1028G>T	NM_006899.4	NP_008830.2:p.(Ser343Ile)	NC_000020.10:g.2640214C>A	VUS	1 lab	0cc8b391a8
11:66478124 SPTBN2 G>C	11	66478124	66478124	G	C	SPTBN2	c.1002C>G	NM_006946.3	NP_008877.1:p.(Ala334=)	NC_000011.9:g.66478124G>C	(Likely) benign	1 lab	0cc9db88a6
1:40781270 COL9A2 C>G	1	40781270	40781270	C	G	COL9A2	c.142G>C	NM_001852.4	NP_001843.1:p.(Gly48Arg)	NC_000001.10:g.40781270C>G	VUS	1 lab	0ccabc426a
17:7752300 KDM6B G>C	17	7752300	7752300	G	C	KDM6B	c.2694G>C	NM_001080424.2	NP_001073893.1:p.(Pro898=)	NC_000017.10:g.7752300G>C	(Likely) benign	1 lab	0ccad97090
21:47642626 LSS G>A	21	47642626	47642626	G	A	LSS	c.346C>T	NM_002340.6	NP_002331.3:p.(Arg116Cys)	NC_000021.8:g.47642626G>A	VUS	1 lab	0ccb93a4fa
13:86368988 SLITRK6 G>T	13	86368988	86368988	G	T	SLITRK6	c.1656C>A	NM_032229.3	NP_115605.2:p.(Leu552=)	NC_000013.10:g.86368988G>T	(Likely) benign	1 lab	0ccbf1a020
19:4817678 TICAM1 A>G	19	4817678	4817678	A	G	TICAM1	c.712T>C	NM_182919.3	NP_891549.1:p.(Leu238=)	NC_000019.9:g.4817678A>G	(Likely) benign	1 lab	0ccd096bfa
14:89341385 TTC8 C>A	14	89341385	89341385	C	A	TTC8	c.1411C>A	NM_001288781.1	NP_001275710.1:p.(Gln471Lys)	NC_000014.8:g.89341385C>A	VUS	1 lab	0ccd2515ef
2:1658222 PXDN A>G	2	1658222	1658222	A	G	PXDN	c.1896T>C	NM_012293.2	NP_036425.1:p.(Ile632=)	NC_000002.11:g.1658222A>G	(Likely) benign	1 lab	0cd5c8108e
3:130720063 ATP2C1 G>T	3	130720063	130720063	G	T	ATP2C1	c.2630-1G>T	NM_001199179.3	NP_001186108.1:p.?	NC_000003.11:g.130720063G>T	(Likely) pathogenic	1 lab	e1d3a699cc
7:100684965 MUC17 C>T	7	100684965	100684965	C	T	MUC17	c.10268C>T	NM_001040105.1	NP_001035194.1:p.(Pro3423Leu)	NC_000007.13:g.100684965C>T	(Likely) benign	1 lab	0ccf47273d
9:88194001 AGTPBP1 T>C	9	88194001	88194001	T	C	AGTPBP1	c.3056A>G	NM_015239.2	NP_056054.2:p.(Lys1019Arg)	NC_000009.11:g.88194001T>C	VUS	1 lab	0ccf656e65
4:20731737 KCNIP4 G>A	4	20731737	20731737	G	A	KCNIP4	c.646C>T	NM_001035003.1	NP_001030175.1:p.(Arg216Cys)	NC_000004.11:g.20731737G>A	(Likely) benign	1 lab	0cd1b8be5c
X:47269730 ZNF157 G>A	X	47269730	47269730	G	A	ZNF157	c.128G>A	NM_003446.3	NP_003437.2:p.(Arg43Lys)	NC_000023.10:g.47269730G>A	VUS	1 lab	0cd1d39190
14:67787114 PALS1 C>T	14	67787114	67787114	C	T	PALS1	c.1537C>T	NM_022474.4	NP_071919.2:p.(His513Tyr)	NC_000014.8:g.67787114C>T	VUS	1 lab	e1d6fdf69d
1:240635685 FMN2 G>A	1	240635685	240635685	G	A	FMN2	c.5086G>A	NM_001305424.1	NP_001292353.1:p.(Glu1696Lys)	NC_000001.10:g.240635685G>A	(Likely) benign	1 lab	0cd2860ada
9:131347125 SPTAN1 G>A	9	131347125	131347125	G	A	SPTAN1	c.2560+3G>A	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131347125G>A	(Likely) benign	1 lab	e1d7aeb717
16:14674808 PARN A>C	16	14674808	14674808	A	C	PARN	c.1193-8T>G	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14674808A>C	(Likely) benign	1 lab	0cd37c6476
4:187629957 FAT1 C>G	4	187629957	187629957	C	G	FAT1	c.1025G>C	NM_005245.3	NP_005236.2:p.(Gly342Ala)	NC_000004.11:g.187629957C>G	VUS	1 lab	0cd5c42092
19:14034138 CC2D1A C>T	19	14034138	14034138	C	T	CC2D1A	c.1642-8C>T	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14034138C>T	(Likely) benign	1 lab	0cd63a68de
8:145639792 SLC39A4 G>A	8	145639792	145639792	G	A	SLC39A4	c.928C>T	NM_017767.2	NP_060237.2:p.(Leu310=)	NC_000008.10:g.145639792G>A	(Likely) benign	1 lab	0cd9a06140
X:153649265 TAFAZZIN G>A	X	153649265	153649265	G	A	TAFAZZIN	c.813G>A	NM_001303465.1	NP_001290394.1:p.(Thr271=)	NC_000023.10:g.153649265G>A	VUS	1 lab	0cda959f2b
19:47425375 ARHGAP35 A>G	19	47425375	47425375	A	G	ARHGAP35	c.3443A>G	NM_004491.4	NP_004482.4:p.(Lys1148Arg)	NC_000019.9:g.47425375A>G	VUS	1 lab	0cdd5376d9
17:10599148 SCO1 G>A	17	10599148	10599148	G	A	SCO1	c.274C>T	NM_004589.3	NP_004580.1:p.(Pro92Ser)	NC_000017.10:g.10599148G>A	VUS	1 lab	0cdd71cc55
8:144809500 SACK1H T>C	8	144809500	144809500	T	C	SACK1H	c.2131A>G	NM_198488.3	NP_940890.3:p.(Lys711Glu)	NC_000008.10:g.144809500T>C	VUS	1 lab	0cddc5307f
9:27047370 IFT74 G>GT	9	27047370	27047371	G	GT	IFT74	c.1206+2dup	NM_001099222.2	NP_001092692.1:p.?	NC_000009.11:g.27047371dup	(Likely) pathogenic	1 lab	0cdff14f7a
19:36211720 KMT2B G>A	19	36211720	36211720	G	A	KMT2B	c.1471G>A	NM_014727.2	NP_055542.1:p.(Gly491Ser)	NC_000019.9:g.36211720G>A	(Likely) benign	1 lab	0ce1b24ba2
12:6638714 NCAPD2 CAGAG>C	12	6638714	6638720	CAGAG	C	NCAPD2	c.3611_3614del	NM_014865.4	NP_055680.3:p.(Glu1204AlafsTer63)	NC_000012.11:g.6638717_6638720del	(Likely) pathogenic	1 lab	0ce1eaf916
1:1414450 ATAD3B C>A	1	1414450	1414450	C	A	ATAD3B	c.268C>A	NM_001317238.1	NP_001304167.1:p.(Leu90Met)	NC_000001.10:g.1414450C>A	VUS	1 lab	0ce4cc91df
1:234743270 IRF2BP2 G>C	1	234743270	234743270	G	C	IRF2BP2	c.1377C>G	NM_182972.2	NP_892017.2:p.(Pro459=)	NC_000001.10:g.234743270G>C	(Likely) benign	1 lab	0ce4d9920a
3:135721935 PPP2R3A C>T	3	135721935	135721935	C	T	PPP2R3A	c.1595C>T	NM_002718.4	NP_002709.2:p.(Ala532Val)	NC_000003.11:g.135721935C>T	(Likely) benign	1 lab	0ce5d391ae
2:73677993 ALMS1 C>G	2	73677993	73677993	C	G	ALMS1	c.4342C>G	NM_015120.4	NP_055935.4:p.(His1448Asp)	NC_000002.11:g.73677993C>G	VUS	1 lab	0ce696f977
16:2134210 TSC2 T>G	16	2134210	2134210	T	G	TSC2	c.4006-19T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2134210T>G	(Likely) benign	1 lab	0ce720658c
1:173930928 RC3H1 G>C	1	173930928	173930928	G	C	RC3H1	c.2137C>G	NM_001300850.1	NP_001287779.1:p.(Gln713Glu)	NC_000001.10:g.173930928G>C	(Likely) benign	1 lab	0ce74ffaca
11:118495761 PHLDB1 A>G	11	118495761	118495761	A	G	PHLDB1	c.467A>G	NM_015157.3	NP_055972.1:p.(Tyr156Cys)	NC_000011.9:g.118495761A>G	VUS	1 lab	0ce8e494ab
2:170127566 LRP2 G>A	2	170127566	170127566	G	A	LRP2	c.2168C>T	NM_004525.3	NP_004516.2:p.(Pro723Leu)	NC_000002.11:g.170127566G>A	VUS	1 lab	0ceba35acb
2:164466327 FIGN C>T	2	164466327	164466327	C	T	FIGN	c.2015G>A	NM_018086.4	NP_060556.2:p.(Cys672Tyr)	NC_000002.11:g.164466327C>T	VUS	1 lab	e1dcad9ed7
3:15686064 BTD C>T	3	15686064	15686064	C	T	BTD	c.701C>T	NM_000060.4	NP_000051.1:p.(Thr234Ile)	NC_000003.11:g.15686064C>T	VUS	1 lab	0cef481f8d
14:105420534 AHNAK2 C>A	14	105420534	105420534	C	A	AHNAK2	c.1254G>T	NM_138420.3	NP_612429.2:p.(Arg418Ser)	NC_000014.8:g.105420534C>A	(Likely) benign	1 lab	0cefd9443f
11:67257869 AIP TG>T	11	67257869	67257871	TG	T	AIP	c.730del	NM_003977.4	NP_003968.3:p.(Val244SerfsTer59)	NC_000011.9:g.67257871del	(Likely) pathogenic	1 lab	0ceff4d328
2:98354111 ZAP70 G>A	2	98354111	98354111	G	A	ZAP70	c.1465G>A	NM_001079.3	NP_001070.2:p.(Asp489Asn)	NC_000002.11:g.98354111G>A	VUS	1 lab	0cf38dae42
7:146829561 CNTNAP2 C>T	7	146829561	146829561	C	T	CNTNAP2	c.1308C>T	NM_014141.5	NP_054860.1:p.(Asn436=)	NC_000007.13:g.146829561C>T	(Likely) benign	1 lab	0cf4038299
X:15266887 ASB9 G>T	X	15266887	15266887	G	T	ASB9	c.739C>A	NM_001168531.1	NP_001162003.1:p.(Gln247Lys)	NC_000023.10:g.15266887G>T	(Likely) benign	1 lab	0cf5b9575f
2:234675692 UGT1A1 TACATTAATGCTTCT>A	2	234675692	234675706	TACATTAATGCTTCT	A	UGT1A1	c.877_891delinsA	NM_000463.2	NP_000454.1:p.(Tyr293ArgfsTer27)	NC_000002.11:g.234675692_234675706delinsA	(Likely) pathogenic	1 lab	0cf6144bc0
19:11687192 ACP5 G>A	19	11687192	11687192	G	A	ACP5	c.601C>T	NM_001111035.2	NP_001104505.1:p.(Leu201=)	NC_000019.9:g.11687192G>A	(Likely) benign	1 lab	0cf7c57763
6:129813552 LAMA2 C>G	6	129813552	129813552	C	G	LAMA2	c.8168C>G	NM_000426.3	NP_000417.2:p.(Ala2723Gly)	NC_000006.11:g.129813552C>G	(Likely) benign	1 lab	0cf8da87d0
15:44887514 SPG11 T>G	15	44887514	44887514	T	G	SPG11	c.4578A>C	NM_025137.3	NP_079413.3:p.(Thr1526=)	NC_000015.9:g.44887514T>G	(Likely) benign	1 lab	0cf9708602
10:75757985 VCL G>T	10	75757985	75757985	G	T	VCL	c.20G>T	NM_014000.2	NP_054706.1:p.(Arg7Leu)	NC_000010.10:g.75757985G>T	VUS	1 lab	0cf9c268dd
1:164789319 PBX1 T>G	1	164789319	164789319	T	G	PBX1	c.1008T>G	NM_002585.3	NP_002576.1:p.(Ser336Arg)	NC_000001.10:g.164789319T>G	VUS	1 lab	0cfa5a321a
12:103232935 PAH C>A	12	103232935	103232935	C	A	PAH	c.*18G>T	NM_000277.1	NP_000268.1:p.?	NC_000012.11:g.103232935C>A	(Likely) benign	1 lab	0cfa7bc05e
1:200978397 KIF21B C>T	1	200978397	200978397	C	T	KIF21B	c.261G>A	NM_001252100.1	NP_001239029.1:p.(Gly87=)	NC_000001.10:g.200978397C>T	(Likely) benign	1 lab	0cfc85e4ae
17:4995662 ZFP3 A>C	17	4995662	4995662	A	C	ZFP3	c.863A>C	NM_153018.3	NP_694563.1:p.(Lys288Thr)	NC_000017.10:g.4995662A>C	VUS	1 lab	0cfd2c43e5
20:50405664 SALL4 AG>A	20	50405664	50405667	AG	A	SALL4	c.2477del	NM_020436.5	NP_065169.1:p.(Pro826LeufsTer30)	NC_000020.10:g.50405667del	(Likely) pathogenic	1 lab	0cfde0b3e1
2:109382362 RANBP2 T>G	2	109382362	109382362	T	G	RANBP2	c.5367T>G	NM_006267.4	NP_006258.3:p.(Val1789=)	NC_000002.11:g.109382362T>G	(Likely) benign	1 lab	0cfea6f277
19:56055480 SBK3 T>A	19	56055480	56055480	T	A	SBK3	c.385A>T	NM_001199824.2	NP_001186753.1:p.(Met129Leu)	NC_000019.9:g.56055480T>A	VUS	1 lab	0cff118f21
22:19707184 SEPTIN5 G>A	22	19707184	19707184	G	A	SEPTIN5	c.141G>A	NM_001009939.2	NP_001009939.1:p.(Ser47=)	NC_000022.10:g.19707184G>A	(Likely) benign	1 lab	0d0041713a
X:150154065 HMGB3 C>T	X	150154065	150154065	C	T	HMGB3	c.-5-3C>T	NM_001301228.1	NP_001288157.1:p.?	NC_000023.10:g.150154065C>T	(Likely) benign	1 lab	0d01088b00
10:12139941 DHTKD1 A>G	10	12139941	12139941	A	G	DHTKD1	c.1617A>G	NM_018706.6	NP_061176.3:p.(Val539=)	NC_000010.10:g.12139941A>G	(Likely) benign	1 lab	0d02017bd3
X:77286958 ATP7A CAAGTA>C	X	77286958	77286966	CAAGTA	C	ATP7A	c.3176_3180del	NM_000052.7	NP_000043.4:p.(Val1059GlyfsTer4)	NC_000023.10:g.77286962_77286966del	(Likely) pathogenic	1 lab	0d03618169
12:69124959 NUP107 G>A	12	69124959	69124959	G	A	NUP107	c.1717G>A	NM_001330192.1	NP_001317121.1:p.(Val573Ile)	NC_000012.11:g.69124959G>A	(Likely) benign	1 lab	0d044e6bd0
10:43609058 RET G>T	10	43609058	43609058	G	T	RET	c.1814G>T	NM_020975.6	NP_066124.1:p.(Gly605Val)	NC_000010.10:g.43609058G>T	VUS	1 lab	e1e2a61e0f
2:241724432 KIF1A C>T	2	241724432	241724432	C	T	KIF1A	c.694G>A	NM_001244008.1	NP_001230937.1:p.(Ala232Thr)	NC_000002.11:g.241724432C>T	(Likely) benign	1 lab	0d0726287a
16:87393929 FBXO31 G>A	16	87393929	87393929	G	A	FBXO31	c.384C>T	NM_024735.4	NP_079011.3:p.(Gly128=)	NC_000016.9:g.87393929G>A	(Likely) benign	1 lab	0d0964906b
16:2106720 TSC2 AC>A	16	2106720	2106723	AC	A	TSC2	c.727del	NM_000548.5	NP_000539.2:p.(Leu243SerfsTer17)	NC_000016.9:g.2106723del	(Likely) pathogenic	1 lab	0d09a90f51
8:17104777 VPS37A C>T	8	17104777	17104777	C	T	VPS37A	c.24C>T	NM_152415.2	NP_689628.2:p.(Thr8=)	NC_000008.10:g.17104777C>T	(Likely) benign	1 lab	0d0c60f1eb
9:95036794 IARS1 T>A	9	95036794	95036794	T	A	IARS1	c.904A>T	NM_013417.3	NP_038203.2:p.(Asn302Tyr)	NC_000009.11:g.95036794T>A	(Likely) benign	1 lab	0d0c84e271
X:105450548 PWWP3B G>A	X	105450548	105450548	G	A	PWWP3B	c.1123G>A	NM_152423.4	NP_689636.3:p.(Asp375Asn)	NC_000023.10:g.105450548G>A	VUS	1 lab	0d0c94fb1e
7:151875100 KMT2C TA>T	7	151875100	151875127	TA	T	KMT2C	c.7443-6del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875127del	(Likely) benign	1 lab	0d0cda54fc
2:179479391 TTN C>T	2	179479391	179479391	C	T	TTN	c.48850G>A	NM_001267550.1	NP_001254479.1:p.(Gly16284Arg)	NC_000002.11:g.179479391C>T	(Likely) benign	1 lab	0d0d40a809
X:13778278 OFD1 G>T	X	13778278	13778278	G	T	OFD1	c.1279G>T	NM_001330210.1	NP_001317139.1:p.(Asp427Tyr)	NC_000023.10:g.13778278G>T	(Likely) benign	1 lab	0d0d42bdf4
9:117166240 WHRN G>A	9	117166240	117166240	G	A	WHRN	c.2354C>T	NM_015404.3	NP_056219.3:p.(Thr785Ile)	NC_000009.11:g.117166240G>A	(Likely) benign	1 lab	0d0e85d1af
3:52485390 TNNC1 C>T	3	52485390	52485390	C	T	TNNC1	c.454+17G>A	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52485390C>T	(Likely) benign	1 lab	0d0ec788b2
2:179398040 TTN A>G	2	179398040	179398040	A	G	TTN	c.103302T>C	NM_001267550.1	NP_001254479.1:p.(Tyr34434=)	NC_000002.11:g.179398040A>G	(Likely) benign	1 lab	0d0f1fb765
6:37321981 RNF8 G>A	6	37321981	37321981	G	A	RNF8	c.41G>A	NM_003958.4	NP_003949.1:p.(Gly14Asp)	NC_000006.11:g.37321981G>A	(Likely) benign	1 lab	0d0f827a4d
12:56396395 SUOX G>A	12	56396395	56396395	G	A	SUOX	c.119G>A	NM_000456.2	NP_000447.2:p.(Arg40His)	NC_000012.11:g.56396395G>A	(Likely) benign	1 lab	0d1130b375
14:105415605 AHNAK2 C>A	14	105415605	105415605	C	A	AHNAK2	c.6183G>T	NM_138420.3	NP_612429.2:p.(Val2061=)	NC_000014.8:g.105415605C>A	(Likely) benign	1 lab	0d11b65b41
14:36988283 NKX2-1 TGTTGCCCAG>T	14	36988283	36988298	TGTTGCCCAG	T	NKX2-1	c.361_369del	NM_001079668.3	NP_001073136.1:p.(Leu121_Asn123del)	NC_000014.8:g.36988290_36988298del	VUS	1 lab	0d11f4f27e
X:38128962 RPGR C>T	X	38128962	38128962	C	T	RPGR	c.2365G>A	NM_000328.2	NP_000319.1:p.(Asp789Asn)	NC_000023.10:g.38128962C>T	(Likely) benign	1 lab	0d12359e13
22:21350373 LZTR1 G>T	22	21350373	21350373	G	T	LZTR1	c.2191G>T	NM_006767.4	NP_006758.2:p.(Glu731Ter)	NC_000022.10:g.21350373G>T	(Likely) pathogenic	1 lab	e1eb6b6ef2
16:2126572 TSC2 C>T	16	2126572	2126572	C	T	TSC2	c.2823C>T	NM_000548.3	NP_000539.2:p.(Asn941=)	NC_000016.9:g.2126572C>T	(Likely) benign	1 lab	0d12690b68
13:20797614 GJB6 A>G	13	20797614	20797614	A	G	GJB6	c.6T>C	NM_006783.4	NP_006774.2:p.(Asp2=)	NC_000013.10:g.20797614A>G	(Likely) benign	1 lab	0d12aeb0e4
16:51175219 SALL1 C>T	16	51175219	51175219	C	T	SALL1	c.914G>A	NM_002968.2	NP_002959.2:p.(Ser305Asn)	NC_000016.9:g.51175219C>T	VUS	1 lab	0d13928d1e
6:43487816 POLR1C G>A	6	43487816	43487816	G	A	POLR1C	c.395G>A	NM_203290.3	NP_976035.1:p.(Gly132Asp)	NC_000006.11:g.43487816G>A	VUS	1 lab	0d160eafa9
X:101970039 GPRASP2 T>C	X	101970039	101970039	T	C	GPRASP2	c.242T>C	NM_001184874.2	NP_001171803.1:p.(Met81Thr)	NC_000023.10:g.101970039T>C	(Likely) benign	1 lab	0d168b8c99
3:4735371 ITPR1 G>C	3	4735371	4735371	G	C	ITPR1	c.4182G>C	NM_001168272.1	NP_001161744.1:p.(Leu1394=)	NC_000003.11:g.4735371G>C	(Likely) benign	1 lab	0d181b8b36
16:53683000 RPGRIP1L C>T	16	53683000	53683000	C	T	RPGRIP1L	c.2180G>A	NM_015272.4	NP_056087.2:p.(Gly727Asp)	NC_000016.9:g.53683000C>T	VUS	1 lab	0d18754d8b
3:52183327 POC1A G>A	3	52183327	52183327	G	A	POC1A	c.240C>T	NM_001161581.1	NP_001155053.1:p.(Phe80=)	NC_000003.11:g.52183327G>A	(Likely) benign	1 lab	0d1906e3c8
X:151092160 MAGEA4 G>A	X	151092160	151092160	G	A	MAGEA4	c.24G>A	NM_002362.4	NP_002353.3:p.(Gln8=)	NC_000023.10:g.151092160G>A	(Likely) benign	1 lab	0d19f95fa1
4:126241248 FAT4 C>G	4	126241248	126241248	C	G	FAT4	c.3682C>G	NM_024582.4	NP_078858.4:p.(Gln1228Glu)	NC_000004.11:g.126241248C>G	VUS	1 lab	0d1e8f83a2
11:1260760 MUC5B A>C	11	1260760	1260760	A	C	MUC5B	c.3547A>C	NM_002458.2	NP_002449.2:p.(Ser1183Arg)	NC_000011.9:g.1260760A>C	VUS	1 lab	0d1f0b339e
9:134396738 POMT1 G>C	9	134396738	134396738	G	C	POMT1	c.1770G>C	NM_007171.3	NP_009102.3:p.(Gln590His)	NC_000009.11:g.134396738G>C	(Likely) pathogenic	1 lab	0d20047861
4:15987578 PROM1 A>G	4	15987578	15987578	A	G	PROM1	c.2184+2T>C	NM_001145847.1	NP_001139319.1:p.?	NC_000004.11:g.15987578A>G	(Likely) pathogenic	1 lab	0d20c07921
12:49434175 KMT2D G>A	12	49434175	49434175	G	A	KMT2D	c.7378C>T	NM_003482.3	NP_003473.3:p.(Arg2460Cys)	NC_000012.11:g.49434175G>A	VUS	1 lab	0d224bcbbd
X:57515249 FAAH2 G>A	X	57515249	57515249	G	A	FAAH2	c.1483G>A	NM_174912.3	NP_777572.2:p.(Gly495Arg)	NC_000023.10:g.57515249G>A	(Likely) benign	1 lab	0d237dcc97
X:24329140 SUPT20HL2 G>A	X	24329140	24329140	G	A	SUPT20HL2	c.2371C>T	NM_001136233.2	NP_001129705.2:p.(Gln791Ter)	NC_000023.10:g.24329140G>A	VUS	1 lab	0d24293d1d
1:26795615 DHDDS C>G	1	26795615	26795615	C	G	DHDDS	c.716C>G	NM_001319959.1	NP_001306888.1:p.(Ser239Ter)	NC_000001.10:g.26795615C>G	(Likely) pathogenic	1 lab	0d2548074d
12:49434924 KMT2D G>A	12	49434924	49434924	G	A	KMT2D	c.6629C>T	NM_003482.3	NP_003473.3:p.(Pro2210Leu)	NC_000012.11:g.49434924G>A	(Likely) benign	1 lab	0d25a10e3e
X:44969405 KDM6A C>T	X	44969405	44969405	C	T	KDM6A	c.4243C>T	NM_001291415.1	NP_001278344.1:p.(Arg1415Ter)	NC_000023.10:g.44969405C>T	(Likely) pathogenic	1 lab	0d28385878
X:13727333 RAB9A A>G	X	13727333	13727333	A	G	RAB9A	c.468A>G	NM_004251.4	NP_004242.1:p.(Lys156=)	NC_000023.10:g.13727333A>G	(Likely) benign	1 lab	0d288ed3f8
X:149013420 MAGEA8 G>A	X	149013420	149013420	G	A	MAGEA8	c.374G>A	NM_001166400.1	NP_001159872.1:p.(Arg125His)	NC_000023.10:g.149013420G>A	(Likely) benign	1 lab	0d28de4be5
4:435522 ZNF721 T>C	4	435522	435522	T	C	ZNF721	c.2734A>G	NM_133474.4	NP_597731.2:p.(Lys912Glu)	NC_000004.11:g.435522T>C	(Likely) benign	1 lab	0d2c822de9
1:103488445 COL11A1 G>A	1	103488445	103488445	G	A	COL11A1	c.1134C>T	NM_080629.2	NP_542196.2:p.(Asp378=)	NC_000001.10:g.103488445G>A	(Likely) benign	1 lab	0d2d462883
19:48945615 GRIN2D G>A	19	48945615	48945615	G	A	GRIN2D	c.2649G>A	NM_000836.4	NP_000827.2:p.(Met883Ile)	NC_000019.9:g.48945615G>A	(Likely) benign	1 lab	e1eca0cbc8
9:34655654 IL11RA G>C	9	34655654	34655654	G	C	IL11RA	c.153G>C	NM_001142784.2	NP_001136256.1:p.(Val51=)	NC_000009.11:g.34655654G>C	(Likely) benign	1 lab	0d309a09d6
12:32886737 DNM1L T>C	12	32886737	32886737	T	C	DNM1L	c.1574T>C	NM_001278464.1	NP_001265393.1:p.(Ile525Thr)	NC_000012.11:g.32886737T>C	VUS	1 lab	0d315b5716
5:92921137 NR2F1 C>A	5	92921137	92921137	C	A	NR2F1	c.408C>A	NM_005654.5	NP_005645.1:p.(Asn136Lys)	NC_000005.9:g.92921137C>A	VUS	1 lab	0d3282c463
15:28459241 HERC2 A>G	15	28459241	28459241	A	G	HERC2	c.6536T>C	NM_004667.5	NP_004658.3:p.(Val2179Ala)	NC_000015.9:g.28459241A>G	(Likely) benign	1 lab	0d357be926
17:29665826 NF1 A>G	17	29665826	29665826	A	G	NF1	c.6858+3A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665826A>G	VUS	1 lab	0d3588a24f
17:29557334 NF1 G>T	17	29557334	29557334	G	T	NF1	c.3047G>T	NM_000267.3	NP_000258.1:p.(Cys1016Phe)	NC_000017.10:g.29557334G>T	VUS	1 lab	0d36170ce8
1:227153447 COQ8A G>A	1	227153447	227153447	G	A	COQ8A	c.655+9G>A	NM_020247.4	NP_064632.2:p.?	NC_000001.10:g.227153447G>A	(Likely) benign	1 lab	0d364b7cfa
4:84193279 COQ2 G>A	4	84193279	84193279	G	A	COQ2	c.739C>T	NM_015697.8	NP_056512.5:p.(Leu247=)	NC_000004.11:g.84193279G>A	(Likely) benign	1 lab	0d38f4a156
13:114005187 GRTP1 T>A	13	114005187	114005187	T	A	GRTP1	c.442A>T	NM_001286732.1	NP_001273661.1:p.(Asn148Tyr)	NC_000013.10:g.114005187T>A	VUS	1 lab	0d3950efef
3:3189676 TRNT1 GTCCATTCC>G	3	3189676	3189690	GTCCATTCC	G	TRNT1	c.1150_1157del	NM_182916.3	NP_886552.3:p.(Pro384SerfsTer6)	NC_000003.11:g.3189683_3189690del	(Likely) pathogenic	1 lab	0d397ddca6
3:147108828 ZIC4 G>C	3	147108828	147108828	G	C	ZIC4	c.1044C>G	NM_001168378.1	NP_001161850.1:p.(Tyr348Ter)	NC_000003.11:g.147108828G>C	(Likely) pathogenic	1 lab	0d3d2c1a49
2:61492647 USP34 C>T	2	61492647	61492647	C	T	USP34	c.5663G>A	NM_014709.3	NP_055524.3:p.(Arg1888His)	NC_000002.11:g.61492647C>T	VUS	1 lab	0d3f94e0d4
6:33626608 ITPR3 G>A	6	33626608	33626608	G	A	ITPR3	c.528+3G>A	NM_002224.3	NP_002215.2:p.?	NC_000006.11:g.33626608G>A	(Likely) benign	1 lab	0d4325c3bd
18:9117842 NDUFV2 CAT>C	18	9117842	9117844	CAT	C	NDUFV2	c.62_63del	NM_021074.5	NP_066552.2:p.(His21ArgfsTer6)	NC_000018.9:g.9117843_9117844del	(Likely) pathogenic	1 lab	0d448d8fc7
12:7047188 ATN1 A>AGAGCGCGAGCGCGAGAAG	12	7047188	7047216	A	AGAGCGCGAGCGCGAGAAG	ATN1	c.2486_2503dup	NM_001940.4	NP_001931.2:p.(Arg829_Glu834dup)	NC_000012.11:g.7047199_7047216dup	VUS	1 lab	0d461b6742
1:5925216 NPHP4 C>T	1	5925216	5925216	C	T	NPHP4	c.3762G>A	NM_015102.4	NP_055917.1:p.(Gly1254=)	NC_000001.10:g.5925216C>T	(Likely) benign	1 lab	0d47b7f30d
19:7605523 PNPLA6 A>G	19	7605523	7605523	A	G	PNPLA6	c.749A>G	NM_001166111.1	NP_001159583.1:p.(Lys250Arg)	NC_000019.9:g.7605523A>G	VUS	1 lab	0d487a64e4
13:32911346 BRCA2 G>A	13	32911346	32911346	G	A	BRCA2	c.2854G>A	NM_000059.3	NP_000050.2:p.(Ala952Thr)	NC_000013.10:g.32911346G>A	(Likely) benign	1 lab	0d49f90474
11:113235788 TTC12 C>G	11	113235788	113235788	C	G	TTC12	c.1592+6C>G	NM_001352038.1	NP_001338967.1:p.?	NC_000011.9:g.113235788C>G	(Likely) benign	1 lab	0d4a1da373
12:1992095 CACNA2D4 G>A	12	1992095	1992095	G	A	CACNA2D4	c.1423C>T	NM_172364.4	NP_758952.4:p.(Arg475Cys)	NC_000012.11:g.1992095G>A	VUS	1 lab	0d4b475abc
16:2126483 TSC2 C>G	16	2126483	2126483	C	G	TSC2	c.2743-9C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126483C>G	(Likely) pathogenic	1 lab	0d4ef8eebd
17:29553576 NF1 T>C	17	29553576	29553576	T	C	NF1	c.2125T>C	NM_000267.3	NP_000258.1:p.(Cys709Arg)	NC_000017.10:g.29553576T>C	(Likely) pathogenic	1 lab	0d539fa830
16:89261471 CDH15 G>A	16	89261471	89261471	G	A	CDH15	c.2353G>A	NM_004933.2	NP_004924.1:p.(Gly785Arg)	NC_000016.9:g.89261471G>A	(Likely) benign	1 lab	0d5543c5a8
15:48719971 FBN1 C>G	15	48719971	48719971	C	G	FBN1	c.6998-1G>C	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48719971C>G	(Likely) pathogenic	1 lab	0d5625a23b
16:721880 RHOT2 G>A	16	721880	721880	G	A	RHOT2	c.975G>A	NM_138769.2	NP_620124.1:p.(Ser325=)	NC_000016.9:g.721880G>A	(Likely) benign	1 lab	0d566321c3
8:30974012 WRN A>G	8	30974012	30974012	A	G	WRN	c.2416A>G	NM_000553.4	NP_000544.2:p.(Ile806Val)	NC_000008.10:g.30974012A>G	(Likely) benign	1 lab	0d569ac709
16:89337300 ANKRD11 T>G	16	89337300	89337300	T	G	ANKRD11	c.7731A>C	NM_001256182.1	NP_001243111.1:p.(Ser2577=)	NC_000016.9:g.89337300T>G	(Likely) benign	1 lab	0d56a8e91c
6:56480796 DST A>T	6	56480796	56480796	A	T	DST	c.7469T>A	NM_001723.5	NP_001714.1:p.(Ile2490Asn)	NC_000006.11:g.56480796A>T	VUS	1 lab	0d56fa194a
21:34883665 GART G>A	21	34883665	34883665	G	A	GART	c.2208C>T	NM_001136005.1	NP_001129477.1:p.(Gly736=)	NC_000021.8:g.34883665G>A	(Likely) benign	1 lab	0d5715c9c4
17:8131628 CTC1 C>T	17	8131628	8131628	C	T	CTC1	c.3524G>A	NM_025099.6	NP_079375.3:p.(Arg1175Gln)	NC_000017.10:g.8131628C>T	VUS	1 lab	0d57ba8995
17:76503583 DNAH17 G>A	17	76503583	76503583	G	A	DNAH17	c.4541C>T	NM_173628.3	NP_775899.3:p.(Pro1514Leu)	NC_000017.10:g.76503583G>A	VUS	1 lab	0d5900a406
15:85383144 ALPK3 ACT>A	15	85383144	85383148	ACT	A	ALPK3	c.637_638del	NM_020778.5	NP_065829.4:p.(Leu213AlafsTer30)	NC_000015.9:g.85383147_85383148del	VUS	1 lab	0d5c1cc4bf
9:139407476 NOTCH1 T>C	9	139407476	139407476	T	C	NOTCH1	c.2464A>G	NM_017617.5	NP_060087.3:p.(Thr822Ala)	NC_000009.11:g.139407476T>C	VUS	1 lab	0d5cc7fcbe
X:53442031 SMC1A T>C	X	53442031	53442031	T	C	SMC1A	c.197A>G	NM_006306.4	NP_006297.2:p.(His66Arg)	NC_000023.10:g.53442031T>C	(Likely) pathogenic	1 lab	e1ecd5c681
X:150869299 PRRG3 G>C	X	150869299	150869299	G	C	PRRG3	c.490G>C	NM_024082.3	NP_076987.3:p.(Gly164Arg)	NC_000023.10:g.150869299G>C	(Likely) benign	1 lab	0d5da6b9a7
9:139390875 NOTCH1 C>A	9	139390875	139390875	C	A	NOTCH1	c.7316G>T	NM_017617.5	NP_060087.3:p.(Ser2439Ile)	NC_000009.11:g.139390875C>A	VUS	1 lab	0d5e9e96ba
18:21114409 NPC1 C>A	18	21114409	21114409	C	A	NPC1	c.3591+1G>T	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21114409C>A	(Likely) pathogenic	1 lab	0d5ea6bbf8
5:13766112 DNAH5 A>G	5	13766112	13766112	A	G	DNAH5	c.10074T>C	NM_001369.2	NP_001360.1:p.(Thr3358=)	NC_000005.9:g.13766112A>G	(Likely) benign	1 lab	0d60b163be
8:100523444 VPS13B G>A	8	100523444	100523444	G	A	VPS13B	c.4412G>A	NM_017890.4	NP_060360.3:p.(Arg1471Gln)	NC_000008.10:g.100523444G>A	VUS	1 lab	0d624faf96
21:34053864 SYNJ1 T>G	21	34053864	34053864	T	G	SYNJ1	c.1412A>C	NM_203446.2	NP_982271.2:p.(Asn471Thr)	NC_000021.8:g.34053864T>G	VUS	1 lab	0d6269c73f
17:71189209 COG1 A>G	17	71189209	71189209	A	G	COG1	c.1A>G	NM_018714.2	NP_061184.1:p.(Met1?)	NC_000017.10:g.71189209A>G	(Likely) pathogenic	1 lab	0d63243384
16:2134469 TSC2 GC>G	16	2134469	2134472	GC	G	TSC2	c.4249del	NM_000548.5	NP_000539.2:p.(Arg1417GlyfsTer59)	NC_000016.9:g.2134472del	(Likely) pathogenic	1 lab	0d64123436
3:127337872 MCM2 C>T	3	127337872	127337872	C	T	MCM2	c.2016C>T	NM_004526.3	NP_004517.2:p.(Asp672=)	NC_000003.11:g.127337872C>T	(Likely) benign	1 lab	0d66beb20f
8:77761879 ZFHX4 G>A	8	77761879	77761879	G	A	ZFHX4	c.3777G>A	NM_024721.4	NP_078997.4:p.(Met1259Ile)	NC_000008.10:g.77761879G>A	VUS	1 lab	0d67d691e3
11:117279602 CEP164 A>G	11	117279602	117279602	A	G	CEP164	c.3610-4A>G	NM_014956.4	NP_055771.4:p.?	NC_000011.9:g.117279602A>G	(Likely) benign	1 lab	0d6986508c
17:41243070 BRCA1 G>A	17	41243070	41243070	G	A	BRCA1	c.4097-21C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243070G>A	(Likely) benign	1 lab	0d6a85cee1
1:242023833 EXO1 T>A	1	242023833	242023833	T	A	EXO1	c.771T>A	NM_130398.3	NP_569082.2:p.(Ile257=)	NC_000001.10:g.242023833T>A	(Likely) benign	1 lab	0d6b6c8681
8:26722367 ADRA1A C>T	8	26722367	26722367	C	T	ADRA1A	c.120G>A	NM_033302.3	NP_150645.2:p.(Gly40=)	NC_000008.10:g.26722367C>T	(Likely) benign	1 lab	0d6caea438
6:32813527 TAP1 G>A	6	32813527	32813527	G	A	TAP1	c.2256C>T	NM_000593.5	NP_000584.2:p.(Tyr752=)	NC_000006.11:g.32813527G>A	(Likely) benign	1 lab	0d6dbed08a
X:103411496 FAM199X C>T	X	103411496	103411496	C	T	FAM199X	c.30C>T	NM_207318.4	NP_997201.1:p.(Ser10=)	NC_000023.10:g.103411496C>T	(Likely) benign	1 lab	0d750720a0
15:99440128 IGF1R C>T	15	99440128	99440128	C	T	IGF1R	c.1096C>T	NM_000875.4	NP_000866.1:p.(Arg366Trp)	NC_000015.9:g.99440128C>T	VUS	1 lab	0d758e4670
19:9047006 MUC16 A>G	19	9047006	9047006	A	G	MUC16	c.34625T>C	NM_024690.2	NP_078966.2:p.(Met11542Thr)	NC_000019.9:g.9047006A>G	(Likely) benign	1 lab	0d767346b1
8:102555646 GRHL2 G>A	8	102555646	102555646	G	A	GRHL2	c.198G>A	NM_024915.3	NP_079191.2:p.(Leu66=)	NC_000008.10:g.102555646G>A	(Likely) benign	1 lab	0d76e225f6
X:153581759 FLNA G>C	X	153581759	153581759	G	C	FLNA	c.5927C>G	NM_001110556.2	NP_001104026.1:p.(Ser1976Ter)	NC_000023.10:g.153581759G>C	(Likely) pathogenic	1 lab	0d77a40ac2
9:116155824 ALAD C>T	9	116155824	116155824	C	T	ALAD	c.43G>A	NM_001317745.1	NP_001304674.1:p.(Val15Ile)	NC_000009.11:g.116155824C>T	VUS	1 lab	0d7842f036
17:42429772 GRN C>T	17	42429772	42429772	C	T	GRN	c.1477C>T	NM_002087.2	NP_002078.1:p.(Arg493Ter)	NC_000017.10:g.42429772C>T	(Likely) pathogenic	1 lab	0d78b3658f
4:41266152 UCHL1 G>C	4	41266152	41266152	G	C	UCHL1	c.559G>C	NM_004181.4	NP_004172.2:p.(Ala187Pro)	NC_000004.11:g.41266152G>C	(Likely) benign	1 lab	0d79776940
13:31205239 USPL1 G>A	13	31205239	31205239	G	A	USPL1	c.496G>A	NM_005800.5	NP_005791.3:p.(Ala166Thr)	NC_000013.10:g.31205239G>A	(Likely) benign	1 lab	0d79791d66
12:102158482 GNPTAB G>T	12	102158482	102158482	G	T	GNPTAB	c.2213C>A	NM_024312.4	NP_077288.2:p.(Ser738Ter)	NC_000012.11:g.102158482G>T	(Likely) pathogenic	1 lab	0d7b60feef
13:32929068 BRCA2 T>C	13	32929068	32929068	T	C	BRCA2	c.7078T>C	NM_000059.3	NP_000050.2:p.(Ser2360Pro)	NC_000013.10:g.32929068T>C	(Likely) benign	1 lab	0d7e4918fa
14:102463596 DYNC1H1 G>A	14	102463596	102463596	G	A	DYNC1H1	c.3789G>A	NM_001376.4	NP_001367.2:p.(Lys1263=)	NC_000014.8:g.102463596G>A	(Likely) benign	1 lab	0d7f5c38c6
X:29938187 IL1RAPL1 G>A	X	29938187	29938187	G	A	IL1RAPL1	c.1033G>A	NM_014271.4	NP_055086.1:p.(Ala345Thr)	NC_000023.10:g.29938187G>A	VUS	1 lab	e1ef66f69f
8:145584314 SLC52A2 C>T	8	145584314	145584314	C	T	SLC52A2	c.1066C>T	NM_001363118.1	NP_001350047.1:p.(Leu356=)	NC_000008.10:g.145584314C>T	(Likely) benign	1 lab	0d80b13373
6:42932551 PEX6 C>T	6	42932551	42932551	C	T	PEX6	c.2783G>A	NM_000287.3	NP_000278.3:p.(Arg928His)	NC_000006.11:g.42932551C>T	VUS	1 lab	0d80c58de2
3:48604118 COL7A1 C>T	3	48604118	48604118	C	T	COL7A1	c.8279G>A	NM_000094.4	NP_000085.1:p.(Gly2760Glu)	NC_000003.11:g.48604118C>T	(Likely) pathogenic	1 lab	e1f486c2e2
X:23874434 APOO C>A	X	23874434	23874434	C	A	APOO	c.546G>T	NM_024122.4	NP_077027.1:p.(Lys182Asn)	NC_000023.10:g.23874434C>A	VUS	1 lab	0d8417b3ed
11:92532829 FAT3 G>A	11	92532829	92532829	G	A	FAT3				NC_000011.9:g.92532829G>A	VUS	1 lab	0d8481fdb3
16:72821639 ZFHX3 GCCA>G	16	72821639	72821644	GCCA	G	ZFHX3	c.10533_10535del	NM_006885.4	NP_008816.3:p.(Gly3512del)	NC_000016.9:g.72821642_72821644del	(Likely) benign	1 lab	e1f4bd7701
X:23754078 ACOT9 G>A	X	23754078	23754078	G	A	ACOT9	c.76C>T	NM_001037171.1	NP_001032248.1:p.(Pro26Ser)	NC_000023.10:g.23754078G>A	(Likely) benign	1 lab	0d84d52c0b
10:100185365 HPS1 G>A	10	100185365	100185365	G	A	HPS1	c.296C>T	NM_001322487.1	NP_001309416.1:p.(Pro99Leu)	NC_000010.10:g.100185365G>A	VUS	1 lab	0d85fd7840
16:72146364 DHX38 C>A	16	72146364	72146364	C	A	DHX38	c.3652C>A	NM_014003.3	NP_054722.2:p.(Pro1218Thr)	NC_000016.9:g.72146364C>A	VUS	1 lab	0d8708604e
17:8135112 CTC1 A>C	17	8135112	8135112	A	C	CTC1	c.2407T>G	NM_025099.6	NP_079375.3:p.(Ser803Ala)	NC_000017.10:g.8135112A>C	(Likely) benign	1 lab	0d87cf6766
8:145109753 OPLAH C>T	8	145109753	145109753	C	T	OPLAH	c.2473G>A	NM_017570.4	NP_060040.1:p.(Gly825Arg)	NC_000008.10:g.145109753C>T	VUS	1 lab	0d8834d739
7:42012166 GLI3 G>A	7	42012166	42012166	G	A	GLI3	c.1873C>T	NM_000168.5	NP_000159.3:p.(Arg625Trp)	NC_000007.13:g.42012166G>A	(Likely) pathogenic	1 lab	0d88843b96
7:100639156 MUC12 C>T	7	100639156	100639156	C	T	MUC12	c.5312C>T	NM_001164462.1	NP_001157934.1:p.(Ala1771Val)	NC_000007.13:g.100639156C>T	(Likely) benign	1 lab	0d89337824
1:156106009 LMNA C>T	1	156106009	156106009	C	T	LMNA	c.1162C>T	NM_170707.4	NP_733821.1:p.(Arg388Cys)	NC_000001.10:g.156106009C>T	VUS	1 lab	e1f998a3af
8:120772945 TAF2 G>A	8	120772945	120772945	G	A	TAF2	c.2592C>T	NM_003184.3	NP_003175.1:p.(Asn864=)	NC_000008.10:g.120772945G>A	(Likely) benign	1 lab	0d8a522e03
12:40689300 LRRK2 A>G	12	40689300	40689300	A	G	LRRK2	c.2950A>G	NM_198578.3	NP_940980.3:p.(Ile984Val)	NC_000012.11:g.40689300A>G	VUS	1 lab	0d8ab3d652
17:29684001 NF1 C>T	17	29684001	29684001	C	T	NF1	c.7699C>T	NM_000267.3	NP_000258.1:p.(Gln2567Ter)	NC_000017.10:g.29684001C>T	(Likely) pathogenic	1 lab	0d8bab3362
14:53570437 DDHD1 C>G	14	53570437	53570437	C	G	DDHD1	c.976G>C	NM_001160148.1	NP_001153620.1:p.(Asp326His)	NC_000014.8:g.53570437C>G	VUS	1 lab	0d8facc982
1:218607537 TGFB2 T>A	1	218607537	218607537	T	A	TGFB2	c.708T>A	NM_001135599.3	NP_001129071.1:p.(His236Gln)	NC_000001.10:g.218607537T>A	(Likely) benign	1 lab	0d90146bfe
14:68282675 ZFYVE26 A>T	14	68282675	68282675	A	T	ZFYVE26	c.6T>A	NM_015346.3	NP_056161.2:p.(Asn2Lys)	NC_000014.8:g.68282675A>T	(Likely) benign	1 lab	0d90b2a604
17:29548867 NF1 G>A	17	29548867	29548867	G	A	NF1	c.1642-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548867G>A	(Likely) pathogenic	1 lab	0d916b1525
X:49104693 CCDC22 G>C	X	49104693	49104693	G	C	CCDC22	c.1134G>C	NM_014008.4	NP_054727.1:p.(Glu378Asp)	NC_000023.10:g.49104693G>C	VUS	1 lab	0d9172d108
2:219566715 STK36 C>G	2	219566715	219566715	C	G	STK36	c.3931C>G	NM_015690.4	NP_056505.2:p.(Pro1311Ala)	NC_000002.11:g.219566715C>G	VUS	1 lab	0d917baa8a
14:74970754 LTBP2 G>A	14	74970754	74970754	G	A	LTBP2	c.4457C>T	NM_000428.2	NP_000419.1:p.(Ala1486Val)	NC_000014.8:g.74970754G>A	VUS	1 lab	0d91bedddf
10:73447439 CDH23 C>T	10	73447439	73447439	C	T	CDH23	c.2022C>T	NM_022124.5	NP_071407.4:p.(Pro674=)	NC_000010.10:g.73447439C>T	(Likely) benign	1 lab	0d91f6cbc3
9:134077045 NUP214 A>T	9	134077045	134077045	A	T	NUP214	c.5533A>T	NM_005085.3	NP_005076.3:p.(Ser1845Cys)	NC_000009.11:g.134077045A>T	VUS	1 lab	0d9286cda0
2:20137636 WDR35 T>C	2	20137636	20137636	T	C	WDR35	c.2168A>G	NM_001006657.1	NP_001006658.1:p.(Lys723Arg)	NC_000002.11:g.20137636T>C	(Likely) benign	1 lab	0d928f2856
12:122973964 ZCCHC8 C>T	12	122973964	122973964	C	T	ZCCHC8	c.470G>A	NM_017612.4	NP_060082.2:p.(Cys157Tyr)	NC_000012.11:g.122973964C>T	(Likely) benign	1 lab	0d92db8ff7
5:140503154 PCDHB4 C>A	5	140503154	140503154	C	A	PCDHB4	c.1574C>A	NM_018938.3	NP_061761.1:p.(Ala525Glu)	NC_000005.9:g.140503154C>A	VUS	1 lab	0d92f1c21b
17:29592245 NF1 A>G	17	29592245	29592245	A	G	NF1	c.4662-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29592245A>G	(Likely) pathogenic	1 lab	0d95055040
17:79479366 ACTG1 G>A	17	79479366	79479366	G	A	ACTG1	c.15C>T	NM_001199954.2	NP_001186883.1:p.(Ile5=)	NC_000017.10:g.79479366G>A	(Likely) benign	1 lab	0d963fb47d
X:153070092 PDZD4 T>C	X	153070092	153070092	T	C	PDZD4	c.738A>G	NM_001303513.1	NP_001290442.1:p.(Gly246=)	NC_000023.10:g.153070092T>C	(Likely) benign	1 lab	0d96ffbfff
19:39997941 DLL3 C>T	19	39997941	39997941	C	T	DLL3	c.1356C>T	NM_016941.3	NP_058637.1:p.(Val452=)	NC_000019.9:g.39997941C>T	(Likely) benign	1 lab	0d97f90540
1:152280470 FLG T>C	1	152280470	152280470	T	C	FLG	c.6892A>G	NM_002016.1	NP_002007.1:p.(Ser2298Gly)	NC_000001.10:g.152280470T>C	(Likely) benign	1 lab	0d98fbe64c
7:42063088 GLI3 GTC>G	7	42063088	42063090	GTC	G	GLI3	c.1474_1475del	NM_000168.6	NP_000159.3:p.(Asp492HisfsTer11)	NC_000007.13:g.42063089_42063090del	(Likely) pathogenic	1 lab	0d997dd083
16:77398244 ADAMTS18 T>G	16	77398244	77398244	T	G	ADAMTS18	c.297A>C	NM_001326358.1	NP_001313287.1:p.(Leu99=)	NC_000016.9:g.77398244T>G	(Likely) benign	1 lab	0d9a5024a2
11:62287402 AHNAK G>A	11	62287402	62287402	G	A	AHNAK	c.14487C>T	NM_001620.2	NP_001611.1:p.(Asp4829=)	NC_000011.9:g.62287402G>A	(Likely) benign	1 lab	0d9a50b5e1
22:19886566 TXNRD2 G>T	22	19886566	19886566	G	T	TXNRD2	c.682+6C>A	NM_001282512.2	NP_001269441.1:p.?	NC_000022.10:g.19886566G>T	(Likely) benign	1 lab	0d9a7d87e0
16:50733646 NOD2 C>G	16	50733646	50733646	C	G	NOD2	c.321C>G	NM_022162.1	NP_071445.1:p.(Ala107=)	NC_000016.9:g.50733646C>G	(Likely) benign	1 lab	0d9a9b233c
5:82837100 VCAN T>C	5	82837100	82837100	T	C	VCAN	c.8278T>C	NM_004385.4	NP_004376.2:p.(Ser2760Pro)	NC_000005.9:g.82837100T>C	VUS	1 lab	0d9af1c89e
18:28659930 DSC2 C>A	18	28659930	28659930	C	A	DSC2	c.1546G>T	NM_024422.6	NP_077740.1:p.(Gly516Trp)	NC_000018.9:g.28659930C>A	VUS	1 lab	e1fb87c77c
12:120271884 CIT A>C	12	120271884	120271884	A	C	CIT	c.659+6T>G	NM_001206999.1	NP_001193928.1:p.?	NC_000012.11:g.120271884A>C	(Likely) benign	1 lab	0d9b7f50ea
11:1260740 MUC5B TAAAA>T	11	1260740	1260745	TAAAA	T	MUC5B	c.3529_3532del	NM_002458.3	NP_002449.2:p.(Lys1177ProfsTer35)	NC_000011.9:g.1260742_1260745del	VUS	1 lab	0d9c9d6f37
10:101601724 ABCC2 G>T	10	101601724	101601724	G	T	ABCC2	c.3615G>T	NM_000392.5	NP_000383.2:p.(Arg1205Ser)	NC_000010.10:g.101601724G>T	VUS	1 lab	0d9d35380a
1:156105687 LMNA T>C	1	156105687	156105687	T	C	LMNA	c.937-5T>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105687T>C	(Likely) benign	1 lab	e1fcffe76d
X:53106461 GPR173 G>A	X	53106461	53106461	G	A	GPR173	c.658G>A	NM_018969.5	NP_061842.1:p.(Val220Met)	NC_000023.10:g.53106461G>A	(Likely) benign	1 lab	0da02b729d
14:23249241 SLC7A7 G>A	14	23249241	23249241	G	A	SLC7A7	c.519C>T	NM_001126106.2	NP_001119578.1:p.(Asn173=)	NC_000014.8:g.23249241G>A	(Likely) benign	1 lab	0da04bb87f
11:66468141 SPTBN2 T>C	11	66468141	66468141	T	C	SPTBN2	c.3429A>G	NM_006946.3	NP_008877.1:p.(Leu1143=)	NC_000011.9:g.66468141T>C	(Likely) benign	1 lab	0da054ab0b
9:135773000 TSC1 GAA>G	9	135773000	135773018	GAA	G	TSC1	c.2626-5_2626-4del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773017_135773018del	(Likely) benign	1 lab	e1fd35984b
17:43528096 PLEKHM1 C>G	17	43528096	43528096	C	G	PLEKHM1	c.2531G>C	NM_014798.2	NP_055613.1:p.(Arg844Pro)	NC_000017.10:g.43528096C>G	VUS	1 lab	0da5571d36
17:29592303 NF1 AC>TTG	17	29592303	29592304	AC	TTG	NF1	c.4718_4719delinsTTG	NM_000267.3	NP_000258.1:p.(Tyr1573PhefsTer28)	NC_000017.10:g.29592303_29592304delinsTTG	(Likely) pathogenic	1 lab	0da7f181f0
6:16327900 ATXN1 C>A	6	16327900	16327900	C	A	ATXN1	c.642G>T	NM_000332.3	NP_000323.2:p.(Gln214His)	NC_000006.11:g.16327900C>A	(Likely) benign	1 lab	0daac7097a
16:88501284 ZNF469 A>G	16	88501284	88501284	A	G	ZNF469				NC_000016.9:g.88501284A>G	(Likely) benign	1 lab	0dac11a9d9
2:39088856 DHX57 G>T	2	39088856	39088856	G	T	DHX57	c.696C>A	NM_198963.3	NP_945314.1:p.(Ile232=)	NC_000002.11:g.39088856G>T	(Likely) benign	1 lab	0dac709af6
7:151866333 KMT2C T>C	7	151866333	151866333	T	C	KMT2C	c.9455A>G	NM_170606.2	NP_733751.2:p.(Asp3152Gly)	NC_000007.13:g.151866333T>C	VUS	1 lab	0dadf4508e
X:50350638 SHROOM4 G>A	X	50350638	50350638	G	A	SHROOM4	c.3504C>T	NM_020717.3	NP_065768.2:p.(Thr1168=)	NC_000023.10:g.50350638G>A	(Likely) benign	1 lab	0dae32f944
9:140140098 CIMIP2A G>A	9	140140098	140140098	G	A	CIMIP2A	c.264C>T	NM_001001710.3	NP_001001710.1:p.(His88=)	NC_000009.11:g.140140098G>A	(Likely) benign	1 lab	0daf0f8b12
X:63412425 AMER1 G>T	X	63412425	63412425	G	T	AMER1	c.742C>A	NM_152424.4	NP_689637.3:p.(Pro248Thr)	NC_000023.10:g.63412425G>T	(Likely) benign	1 lab	0daf3767ce
4:6302656 WFS1 C>T	4	6302656	6302656	C	T	WFS1	c.1134C>T	NM_006005.3	NP_005996.2:p.(Thr378=)	NC_000004.11:g.6302656C>T	(Likely) benign	1 lab	0daf4866cc
4:155491655 FGB C>T	4	155491655	155491655	C	T	FGB	c.1329C>T	NM_005141.4	NP_005132.2:p.(Asn443=)	NC_000004.11:g.155491655C>T	(Likely) benign	1 lab	0db0ce4911
7:137776507 AKR1D1 C>A	7	137776507	137776507	C	A	AKR1D1	c.262-7C>A	NM_005989.3	NP_005980.1:p.?	NC_000007.13:g.137776507C>A	(Likely) benign	1 lab	0db138a168
10:27322151 ANKRD26 T>A	10	27322151	27322151	T	A	ANKRD26	c.3807+3A>T	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27322151T>A	VUS	1 lab	0db201f8fb
19:14674715 TECR G>A	19	14674715	14674715	G	A	TECR	c.312G>A	NM_001321170.1	NP_001308099.1:p.(Thr104=)	NC_000019.9:g.14674715G>A	VUS	1 lab	0db253efbb
15:43897498 STRC G>A	15	43897498	43897498	G	A	STRC	c.3894C>T	NM_153700.2	NP_714544.1:p.(His1298=)	NC_000015.9:g.43897498G>A	(Likely) benign	1 lab	0db4fa30cf
2:48027078 MSH6 G>GGTGA	2	48027078	48027082	G	GGTGA	MSH6	c.1957_1960dup	NM_000179.3	NP_000170.1:p.(Met654SerfsTer8)	NC_000002.11:g.48027079_48027082dup	(Likely) pathogenic	1 lab	e1feb393c3
1:39788353 MACF1 G>A	1	39788353	39788353	G	A	MACF1	c.4118G>A	NM_012090.5	NP_036222.3:p.(Arg1373His)	NC_000001.10:g.39788353G>A	(Likely) benign	1 lab	0db6cada9e
12:4763495 NDUFA9 C>T	12	4763495	4763495	C	T	NDUFA9	c.87C>T	NM_005002.4	NP_004993.1:p.(His29=)	NC_000012.11:g.4763495C>T	(Likely) benign	1 lab	0db770904b
X:77268382 ATP7A G>A	X	77268382	77268382	G	A	ATP7A	c.2179G>A	NM_000052.6	NP_000043.4:p.(Gly727Arg)	NC_000023.10:g.77268382G>A	(Likely) pathogenic	1 lab	0db80429f5
11:22281173 ANO5 A>G	11	22281173	22281173	A	G	ANO5	c.1516A>G	NM_213599.2	NP_998764.1:p.(Ser506Gly)	NC_000011.9:g.22281173A>G	(Likely) benign	1 lab	0db847d668
8:144991584 PLEC G>T	8	144991584	144991584	G	T	PLEC	c.12816C>A	NM_201380.3	NP_958782.1:p.(Ser4272=)	NC_000008.10:g.144991584G>T	(Likely) benign	1 lab	0db8a2e438
19:9069464 MUC16 G>A	19	9069464	9069464	G	A	MUC16	c.17982C>T	NM_024690.2	NP_078966.2:p.(Leu5994=)	NC_000019.9:g.9069464G>A	(Likely) benign	1 lab	0db9072810
9:140094501 TPRN G>T	9	140094501	140094501	G	T	TPRN	c.663C>A	NM_001128228.3	NP_001121700.2:p.(Leu221=)	NC_000009.11:g.140094501G>T	(Likely) benign	1 lab	0dbc6bf8ea
22:38119972 TRIOBP A>G	22	38119972	38119972	A	G	TRIOBP	c.1409A>G	NM_001039141.2	NP_001034230.1:p.(Asn470Ser)	NC_000022.10:g.38119972A>G	(Likely) benign	1 lab	0dbda3ebb9
16:718378 RHOT2 C>T	16	718378	718378	C	T	RHOT2	c.63C>T	NM_001352275.1	NP_001339204.1:p.(Ile21=)	NC_000016.9:g.718378C>T	(Likely) benign	1 lab	0dbfbccd9c
1:36563278 COL8A2 C>A	1	36563278	36563278	C	A	COL8A2	c.2004G>T	NM_005202.3	NP_005193.1:p.(Arg668=)	NC_000001.10:g.36563278C>A	(Likely) benign	1 lab	0dc0a40c5d
2:74763595 LOXL3 G>A	2	74763595	74763595	G	A	LOXL3	c.916C>T	NM_032603.4	NP_115992.1:p.(Arg306Cys)	NC_000002.11:g.74763595G>A	VUS	1 lab	0dc0fad987
2:25469072 DNMT3A C>T	2	25469072	25469072	C	T	DNMT3A	c.1386G>A	NM_175629.2	NP_783328.1:p.(Ala462=)	NC_000002.11:g.25469072C>T	(Likely) benign	1 lab	0dc3aa42dc
16:70998781 HYDIN C>T	16	70998781	70998781	C	T	HYDIN	c.5638G>A	NM_001270974.2	NP_001257903.1:p.(Gly1880Ser)	NC_000016.9:g.70998781C>T	VUS	1 lab	0dc4677f8d
1:167097036 STYXL2 GAC>G	1	167097036	167097039	GAC	G	STYXL2	c.2670_2671del	NM_001080426.3	NP_001073895.1:p.(Asp890GlufsTer13)	NC_000001.10:g.167097038_167097039del	VUS	1 lab	e20583e168
19:35804268 MAG T>C	19	35804268	35804268	T	C	MAG	c.1717T>C	NM_001199216.1	NP_001186145.1:p.(Ser573Pro)	NC_000019.9:g.35804268T>C	VUS	1 lab	0dc6a8ef34
13:110839668 COL4A1 T>A	13	110839668	110839668	T	A	COL4A1	c.1545A>T	NM_001845.5	NP_001836.3:p.(Gln515His)	NC_000013.10:g.110839668T>A	VUS	1 lab	0dca5b756c
X:31224727 DMD A>G	X	31224727	31224727	A	G	DMD	c.9252T>C	NM_004010.3	NP_004001.1:p.(Cys3084=)	NC_000023.10:g.31224727A>G	(Likely) benign	1 lab	0dca72cd7d
1:22199535 HSPG2 G>A	1	22199535	22199535	G	A	HSPG2	c.3846C>T	NM_001291860.1	NP_001278789.1:p.(Gly1282=)	NC_000001.10:g.22199535G>A	VUS	1 lab	0dcba1d97b
11:121495903 SORL1 C>T	11	121495903	121495903	C	T	SORL1	c.6281C>T	NM_003105.5	NP_003096.1:p.(Thr2094Met)	NC_000011.9:g.121495903C>T	VUS	1 lab	0dcea73cdf
14:94423272 ASB2 G>A	14	94423272	94423272	G	A	ASB2	c.7C>T	NM_016150.4	NP_057234.2:p.(Arg3Cys)	NC_000014.8:g.94423272G>A	VUS	1 lab	0dd10be043
19:42879871 MEGF8 C>T	19	42879871	42879871	C	T	MEGF8	c.7482C>T	NM_001271938.2	NP_001258867.1:p.(Asp2494=)	NC_000019.9:g.42879871C>T	(Likely) benign	1 lab	0dd28b451f
1:52824011 CC2D1B C>T	1	52824011	52824011	C	T	CC2D1B	c.1453G>A	NM_032449.2	NP_115825.1:p.(Glu485Lys)	NC_000001.10:g.52824011C>T	VUS	1 lab	0dd378faab
11:31653826 ELP4 C>T	11	31653826	31653826	C	T	ELP4	c.801C>T	NM_001288726.1	NP_001275655.1:p.(Asp267=)	NC_000011.9:g.31653826C>T	(Likely) benign	1 lab	0dd6d41039
16:2137891 TSC2 G>T	16	2137891	2137891	G	T	TSC2	c.5017G>T	NM_000548.3	NP_000539.2:p.(Val1673Phe)	NC_000016.9:g.2137891G>T	VUS	1 lab	0dd6f9838f
2:179498548 TTN G>T	2	179498548	179498548	G	T	TTN	c.42678C>A	NM_001267550.1	NP_001254479.1:p.(Val14226=)	NC_000002.11:g.179498548G>T	(Likely) benign	1 lab	0dd8761555
1:110613080 ALX3 G>A	1	110613080	110613080	G	A	ALX3	c.155C>T	NM_006492.3	NP_006483.2:p.(Pro52Leu)	NC_000001.10:g.110613080G>A	(Likely) benign	1 lab	0dda3a595a
6:99885174 USP45 T>G	6	99885174	99885174	T	G	USP45	c.1182A>C	NM_001346029.1	NP_001332958.1:p.(Arg394Ser)	NC_000006.11:g.99885174T>G	VUS	1 lab	0dde055aed
16:57689912 ADGRG1 G>A	16	57689912	57689912	G	A	ADGRG1	c.1017+8G>A	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57689912G>A	(Likely) benign	1 lab	0ddf8e09be
16:2122913 TSC2 T>A	16	2122913	2122913	T	A	TSC2	c.2284T>A	NM_000548.5	NP_000539.2:p.(Leu762Met)	NC_000016.9:g.2122913T>A	VUS	1 lab	e209c3fc2d
12:1910206 CACNA2D4 C>CA	12	1910206	1910207	C	CA	CACNA2D4	c.2868+2dup	NM_172364.4	NP_758952.4:p.?	NC_000012.11:g.1910207dup	VUS	1 lab	0de1ff7fb0
18:10677791 PIEZO2 G>A	18	10677791	10677791	G	A	PIEZO2	c.7695C>T	NM_022068.3	NP_071351.2:p.(Ile2565=)	NC_000018.9:g.10677791G>A	(Likely) benign	1 lab	0de38c8c23
6:7579586 DSP A>G	6	7579586	7579586	A	G	DSP	c.3163A>G	NM_004415.2	NP_004406.2:p.(Asn1055Asp)	NC_000006.11:g.7579586A>G	VUS	1 lab	323729fbcc
9:79933241 VPS13A A>G	9	79933241	79933241	A	G	VPS13A	c.5047A>G	NM_033305.2	NP_150648.2:p.(Thr1683Ala)	NC_000009.11:g.79933241A>G	(Likely) benign	1 lab	0de48703a8
19:41903747 BCKDHA C>T	19	41903747	41903747	C	T	BCKDHA	c.15C>T	NM_000709.3	NP_000700.1:p.(Ile5=)	NC_000019.9:g.41903747C>T	(Likely) benign	1 lab	0e110a708c
14:92537354 ATXN3 C>CTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCA	NM_004993.5	NP_004984.2:p.(Gly306GlnfsTer29)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTG	(Likely) benign	1 lab	0de725142f
11:108163429 ATM C>T	11	108163429	108163429	C	T	ATM	c.4520C>T	NM_001351834.2	NP_001338763.1:p.(Thr1507Ile)	NC_000011.9:g.108163429C>T	VUS	1 lab	e2119d7fd2
3:100992577 IMPG2 C>A	3	100992577	100992577	C	A	IMPG2	c.676G>T	NM_016247.4	NP_057331.2:p.(Glu226Ter)	NC_000003.11:g.100992577C>A	(Likely) pathogenic	1 lab	e212e5dec1
12:109535549 UNG C>T	12	109535549	109535549	C	T	UNG				NC_000012.11:g.109535549C>T	(Likely) benign	1 lab	0de93c355e
17:1585105 PRPF8 A>C	17	1585105	1585105	A	C	PRPF8	c.653+9T>G	NM_006445.3	NP_006436.3:p.?	NC_000017.10:g.1585105A>C	(Likely) benign	1 lab	0dea24a70c
X:83116210 CYLC1 A>G	X	83116210	83116210	A	G	CYLC1	c.17+3A>G	NM_021118.2	NP_066941.1:p.?	NC_000023.10:g.83116210A>G	VUS	1 lab	0deb203c6e
X:100653463 GLA A>G	X	100653463	100653463	A	G	GLA	c.894T>C	NM_000169.2	NP_000160.1:p.(Asn298=)	NC_000023.10:g.100653463A>G	(Likely) benign	1 lab	0dec2b6350
11:108155138 ATM C>T	11	108155138	108155138	C	T	ATM	c.3931C>T	NM_000051.4	NP_000042.3:p.(Gln1311Ter)	NC_000011.9:g.108155138C>T	(Likely) pathogenic	1 lab	e2131157c7
16:2155432 PKD1 C>T	16	2155432	2155432	C	T	PKD1	c.7907G>A	NM_001009944.2	NP_001009944.2:p.(Arg2636Gln)	NC_000016.9:g.2155432C>T	VUS	1 lab	0df0c60b74
18:56204671 ALPK2 A>T	18	56204671	56204671	A	T	ALPK2	c.2748T>A	NM_052947.4	NP_443179.3:p.(Asn916Lys)	NC_000018.9:g.56204671A>T	(Likely) benign	1 lab	0df0ca1853
1:152284644 FLG G>A	1	152284644	152284644	G	A	FLG	c.2718C>T	NM_002016.1	NP_002007.1:p.(Ser906=)	NC_000001.10:g.152284644G>A	(Likely) benign	1 lab	0df1353f13
5:76721594 PDE8B T>C	5	76721594	76721594	T	C	PDE8B	c.2421T>C	NM_003719.3	NP_003710.1:p.(Thr807=)	NC_000005.9:g.76721594T>C	(Likely) benign	1 lab	0df1e215b8
16:75590108 TMEM231 G>C	16	75590108	75590108	G	C	TMEM231	c.62C>G	NM_001077416.2	NP_001070884.2:p.(Ser21Ter)	NC_000016.9:g.75590108G>C	(Likely) pathogenic	1 lab	0df60770fc
X:32466701 DMD A>C	X	32466701	32466701	A	C	DMD	c.3289T>G	NM_004010.3	NP_004001.1:p.(Ser1097Ala)	NC_000023.10:g.32466701A>C	(Likely) benign	1 lab	0df6698b69
8:10623361 PINX1 C>G	8	10623361	10623361	C	G	PINX1	c.537G>C	NM_017884.6	NP_060354.4:p.(Gln179His)	NC_000008.10:g.10623361C>G	(Likely) benign	1 lab	0df7beef20
6:73023300 RIMS1 G>A	6	73023300	73023300	G	A	RIMS1	c.4055G>A	NM_014989.5	NP_055804.2:p.(Arg1352Gln)	NC_000006.11:g.73023300G>A	VUS	1 lab	0df8f9a2bf
6:13307904 TBC1D7 G>A	6	13307904	13307904	G	A	TBC1D7	c.593C>T	NM_016495.5	NP_057579.1:p.(Ala198Val)	NC_000006.11:g.13307904G>A	(Likely) benign	1 lab	0df9be3347
X:73963740 NEXMIF G>A	X	73963740	73963740	G	A	NEXMIF	c.652C>T	NM_001008537.2	NP_001008537.1:p.(Arg218Ter)	NC_000023.10:g.73963740G>A	(Likely) pathogenic	1 lab	0dff0f0990
11:47356715 MYBPC3 G>T	11	47356715	47356715	G	T	MYBPC3	c.2783C>A	NM_000256.3	NP_000247.2:p.(Ser928Ter)	NC_000011.9:g.47356715G>T	(Likely) pathogenic	1 lab	e2132d7f94
11:6648651 DCHS1 C>T	11	6648651	6648651	C	T	DCHS1				NC_000011.9:g.6648651C>T	(Likely) benign	1 lab	0dffe3040d
8:145700098 FOXH1 T>G	8	145700098	145700098	T	G	FOXH1	c.621A>C	NM_003923.2	NP_003914.1:p.(Pro207=)	NC_000008.10:g.145700098T>G	(Likely) benign	1 lab	0e015d574c
1:155057668 EFNA3 C>T	1	155057668	155057668	C	T	EFNA3	c.230C>T	NM_004952.5	NP_004943.1:p.(Pro77Leu)	NC_000001.10:g.155057668C>T	VUS	1 lab	0e040ee887
X:1506215 SLC25A6 G>C	X	1506215	1506215	G	C	SLC25A6	c.696C>G	NM_001636.3	NP_001627.2:p.(Asp232Glu)	NC_000023.10:g.1506215G>C	VUS	1 lab	0e041e5830
17:29685985 NF1 A>T	17	29685985	29685985	A	T	NF1	c.8051-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685985A>T	(Likely) pathogenic	1 lab	0e0596eb7e
1:16257520 SPEN GAAAGAA>G	1	16257520	16257537	GAAAGAA	G	SPEN	c.4797_4802del	NM_015001.3	NP_055816.2:p.(Glu1599_Lys1600del)	NC_000001.10:g.16257532_16257537del	VUS	1 lab	e214963872
14:64884694 MTHFD1 T>C	14	64884694	64884694	T	C	MTHFD1	c.567T>C	NM_005956.4	NP_005947.3:p.(Asn189=)	NC_000014.8:g.64884694T>C	(Likely) benign	1 lab	0e0748e3b0
16:1570725 IFT140 A>G	16	1570725	1570725	A	G	IFT140	c.3538T>C	NM_014714.3	NP_055529.2:p.(Ser1180Pro)	NC_000016.9:g.1570725A>G	VUS	1 lab	0e07b4a387
15:77348434 TSPAN3 A>T	15	77348434	77348434	A	T	TSPAN3	c.227T>A	NM_005724.5	NP_005715.1:p.(Ile76Asn)	NC_000015.9:g.77348434A>T	VUS	1 lab	0e0808d6fe
14:91826064 CCDC88C A>G	14	91826064	91826064	A	G	CCDC88C	c.271-9T>C	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91826064A>G	(Likely) benign	1 lab	0e0a0184e5
12:2224709 CACNA1C G>GA	12	2224709	2224712	G	GA	CACNA1C	c.371+1dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2224712dup	(Likely) pathogenic	1 lab	e214c6f19a
2:44934538 CAMKMT G>T	2	44934538	44934538	G	T	CAMKMT	c.493G>T	NM_024766.5	NP_079042.1:p.(Val165Phe)	NC_000002.11:g.44934538G>T	VUS	1 lab	e2160e6380
4:103592537 MANBA C>G	4	103592537	103592537	C	G	MANBA	c.1131G>C	NM_005908.3	NP_005899.3:p.(Gln377His)	NC_000004.11:g.103592537C>G	(Likely) benign	1 lab	0e0bd84023
2:74689444 MOGS C>A	2	74689444	74689444	C	A	MOGS	c.1472G>T	NM_006302.3	NP_006293.2:p.(Gly491Val)	NC_000002.11:g.74689444C>A	VUS	1 lab	0e0ec6ea26
5:118867035 HSD17B4 G>A	5	118867035	118867035	G	A	HSD17B4	c.2004G>A	NM_001199291.2	NP_001186220.1:p.(Val668=)	NC_000005.9:g.118867035G>A	(Likely) benign	1 lab	0e0f11d986
X:41401950 CASK T>C	X	41401950	41401950	T	C	CASK	c.2149A>G	NM_001367721.1	NP_001354650.1:p.(Asn717Asp)	NC_000023.10:g.41401950T>C	VUS	1 lab	0e0fe4bfc1
3:121981252 CASR C>T	3	121981252	121981252	C	T	CASR	c.1370C>T	NM_000388.4	NP_000379.3:p.(Ala457Val)	NC_000003.11:g.121981252C>T	VUS	1 lab	e21647e743
16:2129474 TSC2 G>A	16	2129474	2129474	G	A	TSC2	c.3284+45G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129474G>A	(Likely) benign	1 lab	0e12503a25
17:48653125 CACNA1G C>T	17	48653125	48653125	C	T	CACNA1G	c.1362C>T	NM_018896.4	NP_061496.2:p.(Val454=)	NC_000017.10:g.48653125C>T	(Likely) benign	1 lab	0e13412705
9:135171269 SETX C>T	9	135171269	135171269	C	T	SETX	c.6096G>A	NM_015046.5	NP_055861.3:p.(Lys2032=)	NC_000009.11:g.135171269C>T	(Likely) benign	1 lab	0e146cff51
2:216274647 FN1 G>A	2	216274647	216274647	G	A	FN1	c.2122+10C>T	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216274647G>A	(Likely) benign	1 lab	0e153341e6
1:54605318 CDCP2 T>TG	1	54605318	54605326	T	TG	CDCP2	c.1224dup	NM_201546.4	NP_963840.2:p.(Met409HisfsTer45)	NC_000001.10:g.54605326dup	(Likely) benign	1 lab	0e162cd701
X:37431635 LANCL3 T>C	X	37431635	37431635	T	C	LANCL3	c.512T>C	NM_198511.2	NP_940913.1:p.(Phe171Ser)	NC_000023.10:g.37431635T>C	(Likely) benign	1 lab	0e16f8fcb0
9:139835770 FBXW5 G>C	9	139835770	139835770	G	C	FBXW5	c.1390C>G	NM_018998.4	NP_061871.1:p.(Arg464Gly)	NC_000009.11:g.139835770G>C	VUS	1 lab	0e1786e467
X:21674751 KLHL34 C>T	X	21674751	21674751	C	T	KLHL34	c.1156G>A	NM_153270.2	NP_695002.1:p.(Asp386Asn)	NC_000023.10:g.21674751C>T	(Likely) benign	1 lab	0e17a3cc1a
2:179545884 TTN T>C	2	179545884	179545884	T	C	TTN	c.33262A>G	NM_001267550.1	NP_001254479.1:p.(Lys11088Glu)	NC_000002.11:g.179545884T>C	VUS	1 lab	0e1891a695
2:152447903 NEB C>T	2	152447903	152447903	C	T	NEB	c.14893G>A	NM_001271208.1	NP_001258137.1:p.(Gly4965Arg)	NC_000002.11:g.152447903C>T	VUS	1 lab	0e18d77148
X:39933257 BCOR C>T	X	39933257	39933257	C	T	BCOR	c.1342G>A	NM_001123385.1	NP_001116857.1:p.(Val448Met)	NC_000023.10:g.39933257C>T	VUS	1 lab	0e1a908c60
11:118368740 KMT2A C>T	11	118368740	118368740	C	T	KMT2A	c.5754C>T	NM_001197104.1	NP_001184033.1:p.(Asp1918=)	NC_000011.9:g.118368740C>T	(Likely) benign	1 lab	0e1b0754b3
12:114836531 TBX5 T>C	12	114836531	114836531	T	C	TBX5	c.363-6A>G	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114836531T>C	(Likely) benign	1 lab	0e1c372ffe
16:2129247 TSC2 A>G	16	2129247	2129247	A	G	TSC2	c.3132-30A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129247A>G	(Likely) benign	1 lab	0e1c9e59b7
19:50365435 PNKP C>T	19	50365435	50365435	C	T	PNKP	c.1126+7G>A	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50365435C>T	(Likely) benign	1 lab	0e1cac6300
3:145788663 PLOD2 A>T	3	145788663	145788663	A	T	PLOD2	c.2122-4T>A	NM_182943.2	NP_891988.1:p.?	NC_000003.11:g.145788663A>T	VUS	1 lab	0e1d18076e
6:50805717 TFAP2B T>C	6	50805717	50805717	T	C	TFAP2B	c.851T>C	NM_003221.4	NP_003212.2:p.(Leu284Ser)	NC_000006.11:g.50805717T>C	VUS	1 lab	e217a3a58f
11:679807 DEAF1 G>T	11	679807	679807	G	T	DEAF1	c.1007C>A	NM_021008.3	NP_066288.2:p.(Thr336Asn)	NC_000011.9:g.679807G>T	VUS	1 lab	0e1f0950ef
2:166245784 SCN2A A>C	2	166245784	166245784	A	C	SCN2A	c.5468A>C	NM_021007.2	NP_066287.2:p.(Asp1823Ala)	NC_000002.11:g.166245784A>C	(Likely) benign	1 lab	0e1f781da5
5:6632091 NSUN2 C>T	5	6632091	6632091	C	T	NSUN2	c.255-1G>A	NM_017755.5	NP_060225.4:p.?	NC_000005.9:g.6632091C>T	(Likely) pathogenic	1 lab	0e2234e316
X:153689802 PLXNA3 A>G	X	153689802	153689802	A	G	PLXNA3	c.958A>G	NM_017514.4	NP_059984.3:p.(Ile320Val)	NC_000023.10:g.153689802A>G	(Likely) benign	1 lab	0e22bf82a1
4:79462059 FRAS1 G>A	4	79462059	79462059	G	A	FRAS1	c.11820G>A	NM_025074.7	NP_079350.5:p.(Glu3940=)	NC_000004.11:g.79462059G>A	(Likely) benign	1 lab	0e23787aa2
X:23723893 ACOT9 G>C	X	23723893	23723893	G	C	ACOT9	c.925C>G	NM_001037171.1	NP_001032248.1:p.(His309Asp)	NC_000023.10:g.23723893G>C	VUS	1 lab	0e25fccf8b
17:16347055 LRRC75A G>A	17	16347055	16347055	G	A	LRRC75A	c.882C>T	NM_001113567.2	NP_001107039.1:p.(His294=)	NC_000017.10:g.16347055G>A	(Likely) benign	1 lab	0e288a351a
17:29554554 NF1 C>G	17	29554554	29554554	C	G	NF1	c.2339C>G	NM_000267.3	NP_000258.1:p.(Thr780Arg)	NC_000017.10:g.29554554C>G	VUS	1 lab	0e2de1f595
5:68715254 MARVELD2 C>T	5	68715254	68715254	C	T	MARVELD2	c.42C>T	NM_001038603.2	NP_001033692.2:p.(Tyr14=)	NC_000005.9:g.68715254C>T	(Likely) benign	1 lab	0e311f0752
X:70316545 FOXO4 A>G	X	70316545	70316545	A	G	FOXO4	c.167A>G	NM_005938.3	NP_005929.2:p.(Glu56Gly)	NC_000023.10:g.70316545A>G	(Likely) benign	1 lab	0e33a9f04b
1:211526705 TRAF5 C>T	1	211526705	211526705	C	T	TRAF5	c.124C>T	NM_001319207.1	NP_001306136.1:p.(Arg42Cys)	NC_000001.10:g.211526705C>T	VUS	1 lab	0e37bba880
5:101631795 SLCO4C1 A>G	5	101631795	101631795	A	G	SLCO4C1	c.172T>C	NM_180991.5	NP_851322.3:p.(Ser58Pro)	NC_000005.9:g.101631795A>G	(Likely) benign	1 lab	0e38724b95
16:49823462 ZNF423 AAG>A	16	49823462	49823469	AAG	A	ZNF423	c.41-7_41-6del	NM_001379286.1	NP_001366215.1:p.?	NC_000016.9:g.49823468_49823469del	(Likely) benign	1 lab	0e39746aed
X:75648829 MAGEE1 G>A	X	75648829	75648829	G	A	MAGEE1	c.506G>A	NM_020932.2	NP_065983.1:p.(Gly169Asp)	NC_000023.10:g.75648829G>A	(Likely) benign	1 lab	0e3987e7ff
3:9517561 SETD5 C>T	3	9517561	9517561	C	T	SETD5	c.3821C>T	NM_001349451.1	NP_001336380.1:p.(Thr1274Ile)	NC_000003.11:g.9517561C>T	VUS	1 lab	0e3ab21dc5
2:179456348 TTN C>T	2	179456348	179456348	C	T	TTN	c.60198G>A	NM_001267550.1	NP_001254479.1:p.(Pro20066=)	NC_000002.11:g.179456348C>T	(Likely) benign	1 lab	0e3dd65ba6
7:72412591 POM121 G>A	7	72412591	72412591	G	A	POM121	c.1264G>A	NM_001257190.2	NP_001244119.1:p.(Ala422Thr)	NC_000007.13:g.72412591G>A	(Likely) benign	1 lab	0e3df31666
15:90193126 KIF7 G>A	15	90193126	90193126	G	A	KIF7	c.375C>T	NM_198525.2	NP_940927.2:p.(Ala125=)	NC_000015.9:g.90193126G>A	(Likely) benign	1 lab	0e3fa1c025
7:103151473 RELN T>G	7	103151473	103151473	T	G	RELN	c.8120-21A>C	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103151473T>G	(Likely) benign	1 lab	0e3fe20cf8
14:102516790 DYNC1H1 C>T	14	102516790	102516790	C	T	DYNC1H1	c.13831C>T	NM_001376.4	NP_001367.2:p.(Leu4611=)	NC_000014.8:g.102516790C>T	(Likely) benign	1 lab	0e41d188b1
11:64533431 SF1 G>A	11	64533431	64533431	G	A	SF1	c.1779C>T	NM_004630.3	NP_004621.2:p.(Ala593=)	NC_000011.9:g.64533431G>A	(Likely) benign	1 lab	0e43a12c0e
6:121768818 GJA1 C>T	6	121768818	121768818	C	T	GJA1	c.825C>T	NM_000165.5	NP_000156.1:p.(Thr275=)	NC_000006.11:g.121768818C>T	(Likely) benign	1 lab	0e45f4c13b
11:45832693 SLC35C1 C>T	11	45832693	45832693	C	T	SLC35C1	c.902C>T	NM_018389.4	NP_060859.4:p.(Thr301Met)	NC_000011.9:g.45832693C>T	VUS	1 lab	0e463f0e20
5:174152054 MSX2 CG>C	5	174152054	174152058	CG	C	MSX2	c.379+17del	NM_002449.5	NP_002440.2:p.?	NC_000005.9:g.174152058del	(Likely) benign	1 lab	0e46d74900
15:63925001 HERC1 C>T	15	63925001	63925001	C	T	HERC1	c.12703G>A	NM_003922.3	NP_003913.3:p.(Val4235Ile)	NC_000015.9:g.63925001C>T	(Likely) benign	1 lab	0e4734818a
16:2124204 TSC2 G>T	16	2124204	2124204	G	T	TSC2	c.2359G>T	NM_000548.3	NP_000539.2:p.(Glu787Ter)	NC_000016.9:g.2124204G>T	(Likely) pathogenic	1 lab	0e481238c1
9:135781056 TSC1 CCT>C	9	135781056	135781060	CCT	C	TSC1	c.1907_1908del	NM_000368.5	NP_000359.1:p.(Glu636GlyfsTer51)	NC_000009.11:g.135781059_135781060del	(Likely) pathogenic	1 lab	0e4abd08a9
9:94486190 ROR2 G>A	9	94486190	94486190	G	A	ROR2	c.2586C>T	NM_004560.3	NP_004551.2:p.(His862=)	NC_000009.11:g.94486190G>A	(Likely) benign	1 lab	0e4ac750c7
19:50720992 MYH14 G>A	19	50720992	50720992	G	A	MYH14	c.526G>A	NM_001145809.1	NP_001139281.1:p.(Ala176Thr)	NC_000019.9:g.50720992G>A	(Likely) benign	1 lab	0e4c0647ea
1:78392198 NEXN GAA>G	1	78392198	78392200	GAA	G	NEXN	c.590_591del	NM_144573.4	NP_653174.3:p.(Glu197GlyfsTer11)	NC_000001.10:g.78392199_78392200del	VUS	1 lab	0e4c87afa3
17:7221972 NEURL4 T>C	17	7221972	7221972	T	C	NEURL4	c.3706A>G	NM_032442.3	NP_115818.2:p.(Asn1236Asp)	NC_000017.10:g.7221972T>C	VUS	1 lab	0e4d10402d
7:150751367 CDK5 A>G	7	150751367	150751367	A	G	CDK5	c.724T>C	NM_004935.3	NP_004926.1:p.(Tyr242His)	NC_000007.13:g.150751367A>G	(Likely) benign	1 lab	0e4ea5ea12
13:37427813 SMAD9 C>G	13	37427813	37427813	C	G	SMAD9	c.1004-1G>C	NM_001127217.2	NP_001120689.1:p.?	NC_000013.10:g.37427813C>G	(Likely) pathogenic	1 lab	0e4ee733a6
X:49048049 SYP C>T	X	49048049	49048049	C	T	SYP	c.787G>A	NM_003179.2	NP_003170.1:p.(Gly263Arg)	NC_000023.10:g.49048049C>T	VUS	1 lab	0e4f35d694
17:29665040 NF1 C>G	17	29665040	29665040	C	G	NF1	c.6642-3C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665040C>G	(Likely) pathogenic	1 lab	0e4f424fc2
5:150924772 FAT2 G>A	5	150924772	150924772	G	A	FAT2	c.5916C>T	NM_001447.2	NP_001438.1:p.(Val1972=)	NC_000005.9:g.150924772G>A	(Likely) benign	1 lab	0e4fa13bac
14:97304113 VRK1 T>G	14	97304113	97304113	T	G	VRK1	c.175T>G	NM_003384.2	NP_003375.1:p.(Ser59Ala)	NC_000014.8:g.97304113T>G	(Likely) benign	1 lab	0e50961660
X:89177524 TGIF2LX G>A	X	89177524	89177524	G	A	TGIF2LX	c.440G>A	NM_138960.3	NP_620410.3:p.(Gly147Glu)	NC_000023.10:g.89177524G>A	(Likely) benign	1 lab	0e51087ec9
7:2632707 IQCE G>A	7	2632707	2632707	G	A	IQCE	c.1296G>A	NM_152558.5	NP_689771.3:p.(Leu432=)	NC_000007.13:g.2632707G>A	(Likely) benign	1 lab	0e51eed8e8
18:29111051 DSG2 C>G	18	29111051	29111051	C	G	DSG2	c.1116C>G	NM_001943.3	NP_001934.2:p.(Pro372=)	NC_000018.9:g.29111051C>G	(Likely) benign	1 lab	0e52878bd8
1:158585162 SPTA1 C>T	1	158585162	158585162	C	T	SPTA1	c.6632G>A	NM_003126.3	NP_003117.2:p.(Arg2211His)	NC_000001.10:g.158585162C>T	(Likely) benign	1 lab	0e529d18b7
3:127327320 MCM2 C>T	3	127327320	127327320	C	T	MCM2	c.1197C>T	NM_004526.3	NP_004517.2:p.(Leu399=)	NC_000003.11:g.127327320C>T	(Likely) benign	1 lab	0e529d99f2
14:23889253 MYH7 C>T	14	23889253	23889253	C	T	MYH7	c.3527G>A	NM_000257.2	NP_000248.2:p.(Arg1176Gln)	NC_000014.8:g.23889253C>T	VUS	1 lab	0e52ec862a
X:17819491 RAI2 G>A	X	17819491	17819491	G	A	RAI2	c.640C>T	NM_001172743.1	NP_001166214.1:p.(Pro214Ser)	NC_000023.10:g.17819491G>A	VUS	1 lab	0e5429f304
1:3742314 CEP104 G>A	1	3742314	3742314	G	A	CEP104	c.2364+8C>T	NM_014704.3	NP_055519.1:p.?	NC_000001.10:g.3742314G>A	(Likely) benign	1 lab	0e546a9899
17:44060953 MAPT G>A	17	44060953	44060953	G	A	MAPT	c.783G>A	NM_001123066.3	NP_001116538.2:p.(Ala261=)	NC_000017.10:g.44060953G>A	(Likely) benign	1 lab	0e5557b458
17:33507703 UNC45B A>G	17	33507703	33507703	A	G	UNC45B	c.2373+8A>G	NM_001033576.1	NP_001028748.1:p.?	NC_000017.10:g.33507703A>G	(Likely) benign	1 lab	0e556f71f4
7:45115668 CCM2 TG>T	7	45115668	45115675	TG	T	CCM2	c.*19del	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45115675del	(Likely) benign	1 lab	3291de481a
4:10515117 CLNK G>A	4	10515117	10515117	G	A	CLNK	c.877C>T	NM_052964.4	NP_443196.2:p.(Pro293Ser)	NC_000004.11:g.10515117G>A	(Likely) benign	1 lab	0e564d5326
17:40021462 KLHL11 G>C	17	40021462	40021462	G	C	KLHL11	c.162C>G	NM_018143.3	NP_060613.1:p.(Ile54Met)	NC_000017.10:g.40021462G>C	(Likely) benign	1 lab	0e593800ac
17:34797697 MISSING A>G	17	34797697	34797697	A	G	MISSING				NC_000017.10:g.34797697A>G	(Likely) benign	1 lab	0e5c8bb46f
5:150925018 FAT2 C>G	5	150925018	150925018	C	G	FAT2	c.5670G>C	NM_001447.2	NP_001438.1:p.(Glu1890Asp)	NC_000005.9:g.150925018C>G	(Likely) benign	1 lab	0e6027871f
5:110462488 WDR36 G>A	5	110462488	110462488	G	A	WDR36	c.2763G>A	NM_139281.2	NP_644810.1:p.(Leu921=)	NC_000005.9:g.110462488G>A	(Likely) benign	1 lab	0e60b59796
2:170002261 LRP2 C>T	2	170002261	170002261	C	T	LRP2	c.12984G>A	NM_004525.3	NP_004516.2:p.(Lys4328=)	NC_000002.11:g.170002261C>T	(Likely) benign	1 lab	0e61130300
1:42050090 HIVEP3 G>A	1	42050090	42050090	G	A	HIVEP3	c.379C>T	NM_024503.4	NP_078779.2:p.(Pro127Ser)	NC_000001.10:g.42050090G>A	VUS	1 lab	0e6115de27
16:88503883 ZNF469 C>T	16	88503883	88503883	C	T	ZNF469				NC_000016.9:g.88503883C>T	(Likely) benign	1 lab	0e61257019
17:19576534 ALDH3A2 G>A	17	19576534	19576534	G	A	ALDH3A2	c.1514G>A	NM_001031806.1	NP_001026976.1:p.(Ser505Asn)	NC_000017.10:g.19576534G>A	(Likely) benign	1 lab	0e6172a1b6
21:33032141 SOD1 A>G	21	33032141	33032141	A	G	SOD1	c.59A>G	NM_000454.4	NP_000445.1:p.(Asn20Ser)	NC_000021.8:g.33032141A>G	(Likely) benign	1 lab	0e620e16a8
5:37244569 CPLANE1 G>A	5	37244569	37244569	G	A	CPLANE1	c.478C>T	NM_023073.3	NP_075561.3:p.(Arg160Trp)	NC_000005.9:g.37244569G>A	VUS	1 lab	0e623bc079
12:80645533 OTOGL T>C	12	80645533	80645533	T	C	OTOGL	c.1086T>C	NM_173591.3	NP_775862.3:p.(His362=)	NC_000012.11:g.80645533T>C	(Likely) benign	1 lab	0e632bb742
X:152991087 ABCD1 C>A	X	152991087	152991087	C	A	ABCD1	c.366C>A	NM_000033.3	NP_000024.2:p.(Ile122=)	NC_000023.10:g.152991087C>A	(Likely) benign	1 lab	0e63387c86
X:152036222 NSDHL G>T	X	152036222	152036222	G	T	NSDHL	c.789+5G>T	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.152036222G>T	VUS	1 lab	0e63f26e8e
12:21991099 ABCC9 A>C	12	21991099	21991099	A	C	ABCC9	c.3479T>G	NM_020297.2	NP_064693.2:p.(Leu1160Arg)	NC_000012.11:g.21991099A>C	VUS	1 lab	0e648a664a
4:8869799 HMX1 C>G	4	8869799	8869799	C	G	HMX1	c.667G>C	NM_018942.2	NP_061815.2:p.(Asp223His)	NC_000004.11:g.8869799C>G	VUS	1 lab	0e65d13775
1:7798083 CAMTA1 G>A	1	7798083	7798083	G	A	CAMTA1	c.3723G>A	NM_015215.3	NP_056030.1:p.(Pro1241=)	NC_000001.10:g.7798083G>A	(Likely) benign	1 lab	0e65e7ffc6
9:131482258 PKN3 G>A	9	131482258	131482258	G	A	PKN3	c.2338G>A	NM_013355.5	NP_037487.2:p.(Gly780Ser)	NC_000009.11:g.131482258G>A	(Likely) benign	1 lab	0e65fa68a9
10:102768599 PDZD7 G>A	10	102768599	102768599	G	A	PDZD7	c.2727C>T	NM_001195263.1	NP_001182192.1:p.(Phe909=)	NC_000010.10:g.102768599G>A	(Likely) benign	1 lab	0e66d90304
20:10393678 MKKS G>A	20	10393678	10393678	G	A	MKKS	c.485C>T	NM_018848.3	NP_061336.1:p.(Pro162Leu)	NC_000020.10:g.10393678G>A	VUS	1 lab	0e67b50f5e
4:36230484 ARAP2 G>A	4	36230484	36230484	G	A	ARAP2	c.625C>T	NM_015230.4	NP_056045.2:p.(Leu209Phe)	NC_000004.11:g.36230484G>A	VUS	1 lab	0e68265628
18:44101123 LOXHD1 G>A	18	44101123	44101123	G	A	LOXHD1	c.1875C>T	NM_001145472.2	NP_001138944.1:p.(Gly625=)	NC_000018.9:g.44101123G>A	VUS	1 lab	0e6c246b3b
19:1615393 TCF3 C>T	19	1615393	1615393	C	T	TCF3	c.1713G>A	NM_003200.5	NP_003191.1:p.(Glu571=)	NC_000019.9:g.1615393C>T	(Likely) benign	1 lab	0e6c913381
14:105415997 AHNAK2 C>G	14	105415997	105415997	C	G	AHNAK2	c.5791G>C	NM_138420.3	NP_612429.2:p.(Ala1931Pro)	NC_000014.8:g.105415997C>G	VUS	1 lab	0e6d4a156d
9:140850143 CACNA1B A>G	9	140850143	140850143	A	G	CACNA1B	c.1071-7A>G	NM_000718.3	NP_000709.1:p.?	NC_000009.11:g.140850143A>G	(Likely) benign	1 lab	0e6e53bc81
5:90086869 ADGRV1 C>T	5	90086869	90086869	C	T	ADGRV1	c.14223C>T	NM_032119.4	NP_115495.3:p.(Ala4741=)	NC_000005.9:g.90086869C>T	(Likely) benign	1 lab	0e6e795446
14:64532212 SYNE2 A>C	14	64532212	64532212	A	C	SYNE2	c.10275A>C	NM_182914.2	NP_878918.2:p.(Arg3425Ser)	NC_000014.8:g.64532212A>C	(Likely) benign	1 lab	0e6f4a5089
17:80042927 FASN C>T	17	80042927	80042927	C	T	FASN	c.4393G>A	NM_004104.5	NP_004095.4:p.(Gly1465Ser)	NC_000017.10:g.80042927C>T	(Likely) benign	1 lab	0e6f7cca61
17:1552537 RILP G>C	17	1552537	1552537	G	C	RILP	c.386C>G	NM_031430.2	NP_113618.2:p.(Ala129Gly)	NC_000017.10:g.1552537G>C	VUS	1 lab	0e6f9a43a1
X:149963926 CD99L2 C>T	X	149963926	149963926	C	T	CD99L2	c.323G>A	NM_001242614.1	NP_001229543.1:p.(Arg108Lys)	NC_000023.10:g.149963926C>T	(Likely) benign	1 lab	0e6ffa3291
5:112154826 APC ACT>A	5	112154826	112154830	ACT	A	APC	c.1100_1101del	NM_000038.6	NP_000029.2:p.(Ser367CysfsTer10)	NC_000005.9:g.112154829_112154830del	(Likely) pathogenic	1 lab	0e727e93a4
2:110919267 NPHP1 T>C	2	110919267	110919267	T	C	NPHP1	c.1035A>G	NM_000272.3	NP_000263.2:p.(Gln345=)	NC_000002.11:g.110919267T>C	(Likely) benign	1 lab	0e72ff1b66
1:11861317 MTHFR G>A	1	11861317	11861317	G	A	MTHFR	c.376C>T	NM_005957.4	NP_005948.3:p.(Leu126=)	NC_000001.10:g.11861317G>A	(Likely) benign	1 lab	0e733a9c73
4:84193304 COQ2 G>A	4	84193304	84193304	G	A	COQ2	c.714C>T	NM_015697.8	NP_056512.5:p.(Ser238=)	NC_000004.11:g.84193304G>A	(Likely) benign	1 lab	0e73acadbc
7:151836273 KMT2C T>C	7	151836273	151836273	T	C	KMT2C	c.14532A>G	NM_170606.2	NP_733751.2:p.(Ala4844=)	NC_000007.13:g.151836273T>C	(Likely) benign	1 lab	0e7413b1f3
13:110844636 COL4A1 C>T	13	110844636	110844636	C	T	COL4A1	c.1466-5G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110844636C>T	(Likely) benign	1 lab	0e741707c7
5:140076750 HARS2 T>C	5	140076750	140076750	T	C	HARS2	c.956T>C	NM_012208.3	NP_036340.1:p.(Ile319Thr)	NC_000005.9:g.140076750T>C	VUS	1 lab	0e754a73c0
15:31294726 TRPM1 AGTCT>A	15	31294726	31294738	AGTCT	A	TRPM1	c.4173_4176del	NM_001252024.2	NP_001238953.1:p.(Asp1392LeufsTer11)	NC_000015.9:g.31294735_31294738del	VUS	1 lab	0e760af000
3:113517193 ATP6V1A A>G	3	113517193	113517193	A	G	ATP6V1A	c.1394A>G	NM_001690.4	NP_001681.2:p.(Tyr465Cys)	NC_000003.11:g.113517193A>G	VUS	1 lab	e224fa2f9c
17:41245341 BRCA1 T>G	17	41245341	41245341	T	G	BRCA1	c.2207A>C	NM_007294.3	NP_009225.1:p.(Glu736Ala)	NC_000017.10:g.41245341T>G	(Likely) benign	1 lab	0e78d343cd
21:34635109 IFNAR2 C>A	21	34635109	34635109	C	A	IFNAR2	c.852C>A	NM_001289125.1	NP_001276054.1:p.(Asn284Lys)	NC_000021.8:g.34635109C>A	(Likely) benign	1 lab	0e7cb4791b
16:53636000 RPGRIP1L G>A	16	53636000	53636000	G	A	RPGRIP1L	c.3936C>T	NM_015272.4	NP_056087.2:p.(Asp1312=)	NC_000016.9:g.53636000G>A	(Likely) benign	1 lab	0e7ce114bb
2:48026289 MSH6 C>T	2	48026289	48026289	C	T	MSH6	c.1167C>T	NM_000179.2	NP_000170.1:p.(Pro389=)	NC_000002.11:g.48026289C>T	(Likely) benign	1 lab	0e7f9ae817
16:3843454 CREBBP C>T	16	3843454	3843454	C	T	CREBBP	c.1149G>A	NM_004380.2	NP_004371.2:p.(Pro383=)	NC_000016.9:g.3843454C>T	(Likely) benign	1 lab	0e80a3803e
1:36772206 SH3D21 C>T	1	36772206	36772206	C	T	SH3D21	c.12C>T	NM_001162530.2	NP_001156002.1:p.(Leu4=)	NC_000001.10:g.36772206C>T	(Likely) benign	1 lab	0e80a87d51
11:76900386 MYO7A C>T	11	76900386	76900386	C	T	MYO7A	c.3504-3C>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76900386C>T	(Likely) benign	1 lab	0e815797d8
19:42410094 ARHGEF1 G>A	19	42410094	42410094	G	A	ARHGEF1	c.2453G>A	NM_199002.1	NP_945353.1:p.(Arg818Gln)	NC_000019.9:g.42410094G>A	(Likely) benign	1 lab	0e8166726d
X:72673407 CDX4 T>G	X	72673407	72673407	T	G	CDX4	c.557T>G	NM_005193.1	NP_005184.1:p.(Leu186Trp)	NC_000023.10:g.72673407T>G	VUS	1 lab	0e84d1d3cc
8:144998870 PLEC C>T	8	144998870	144998870	C	T	PLEC	c.5638G>A	NM_201380.3	NP_958782.1:p.(Ala1880Thr)	NC_000008.10:g.144998870C>T	VUS	1 lab	0e84d303f9
3:12857917 CAND2 C>T	3	12857917	12857917	C	T	CAND2	c.1486C>T	NM_001162499.2	NP_001155971.1:p.(Arg496Trp)	NC_000003.11:g.12857917C>T	VUS	1 lab	0e850822b0
15:62265673 VPS13C A>C	15	62265673	62265673	A	C	VPS13C	c.2597T>G	NM_001018088.2	NP_001018098.1:p.(Leu866Trp)	NC_000015.9:g.62265673A>C	VUS	1 lab	0e85cb3897
3:121491293 IQCB1 T>C	3	121491293	121491293	T	C	IQCB1	c.1567+111A>G	NM_001023570.3	NP_001018864.2:p.?	NC_000003.11:g.121491293T>C	(Likely) benign	1 lab	0e8626050c
5:14693130 OTULIN C>CA	5	14693130	14693131	C	CA	OTULIN	c.1033dup	NM_138348.5	NP_612357.4:p.(Arg345LysfsTer4)	NC_000005.9:g.14693131dup	VUS	1 lab	0e86a42acf
19:46271890 SIX5 C>A	19	46271890	46271890	C	A	SIX5	c.213G>T	NM_175875.4	NP_787071.2:p.(Gly71=)	NC_000019.9:g.46271890C>A	(Likely) benign	1 lab	0e86b6f5d1
3:129695980 TRH G>A	3	129695980	129695980	G	A	TRH	c.650G>A	NM_007117.4	NP_009048.1:p.(Ser217Asn)	NC_000003.11:g.129695980G>A	VUS	1 lab	0e873a3c96
15:100672303 ADAMTS17 C>T	15	100672303	100672303	C	T	ADAMTS17	c.1630G>A	NM_139057.3	NP_620688.2:p.(Gly544Arg)	NC_000015.9:g.100672303C>T	VUS	1 lab	0e89493884
10:123279564 FGFR2 A>C	10	123279564	123279564	A	C	FGFR2	c.868T>G	NM_000141.4	NP_000132.3:p.(Trp290Gly)	NC_000010.10:g.123279564A>C	(Likely) pathogenic	1 lab	0e8b4f18b0
5:73154052 ARHGEF28 C>T	5	73154052	73154052	C	T	ARHGEF28	c.2047+8C>T	NM_001080479.2	NP_001073948.2:p.?	NC_000005.9:g.73154052C>T	(Likely) benign	1 lab	0e8b9ba25c
9:140052907 GRIN1 G>T	9	140052907	140052907	G	T	GRIN1	c.1045G>T	NM_007327.3	NP_015566.1:p.(Ala349Ser)	NC_000009.11:g.140052907G>T	VUS	1 lab	0e8b9c7947
1:182356255 GLUL C>CTA	1	182356255	182356259	C	CTA	GLUL	c.328+9_328+10dup	NM_002065.6	NP_002056.2:p.?	NC_000001.10:g.182356258_182356259dup	(Likely) benign	1 lab	0e8cf18075
3:184039828 EIF4G1 C>T	3	184039828	184039828	C	T	EIF4G1	c.1456C>T	NM_182917.4	NP_886553.3:p.(Pro486Ser)	NC_000003.11:g.184039828C>T	(Likely) benign	1 lab	0e8e337290
16:15829233 MYH11 G>C	16	15829233	15829233	G	C	MYH11	c.3517C>G	NM_001040113.1	NP_001035202.1:p.(Gln1173Glu)	NC_000016.9:g.15829233G>C	VUS	1 lab	0e8ea51c7c
8:101237502 SPAG1 C>T	8	101237502	101237502	C	T	SPAG1	c.1790C>T	NM_003114.4	NP_003105.2:p.(Pro597Leu)	NC_000008.10:g.101237502C>T	(Likely) benign	1 lab	0e8f472646
X:119210960 RHOXF2B C>T	X	119210960	119210960	C	T	RHOXF2B	c.373G>A	NM_001099685.2	NP_001093155.1:p.(Val125Ile)	NC_000023.10:g.119210960C>T	(Likely) benign	1 lab	0e8fa5ccb0
10:105837196 COL17A1 G>A	10	105837196	105837196	G	A	COL17A1	c.186C>T	NM_000494.4	NP_000485.3:p.(Ser62=)	NC_000010.10:g.105837196G>A	(Likely) benign	1 lab	0e90d58886
1:29529639 MECR G>A	1	29529639	29529639	G	A	MECR	c.425+4C>T	NM_001349712.1	NP_001336641.1:p.?	NC_000001.10:g.29529639G>A	VUS	1 lab	0e91919098
1:201869799 LMOD1 G>A	1	201869799	201869799	G	A	LMOD1	c.342C>T	NM_012134.3	NP_036266.2:p.(Gly114=)	NC_000001.10:g.201869799G>A	(Likely) benign	1 lab	0e93fa6321
7:45143011 TBRG4 A>G	7	45143011	45143011	A	G	TBRG4	c.1130T>C	NM_001261834.1	NP_001248763.1:p.(Leu377Pro)	NC_000007.13:g.45143011A>G	(Likely) benign	1 lab	0e9465eeb9
5:131544974 P4HA2 A>G	5	131544974	131544974	A	G	P4HA2	c.760T>C	NM_004199.2	NP_004190.1:p.(Leu254=)	NC_000005.9:g.131544974A>G	(Likely) benign	1 lab	0e951b6632
X:38530669 TSPAN7 G>A	X	38530669	38530669	G	A	TSPAN7	c.310G>A	NM_004615.3	NP_004606.2:p.(Val104Ile)	NC_000023.10:g.38530669G>A	(Likely) benign	1 lab	0e95b25c9d
19:45912970 ERCC1 A>G	19	45912970	45912970	A	G	ERCC1	c.857T>C	NM_001983.3	NP_001974.1:p.(Phe286Ser)	NC_000019.9:g.45912970A>G	(Likely) benign	1 lab	0e96131165
4:17528618 CLRN2 C>T	4	17528618	17528618	C	T	CLRN2	c.612C>T	NM_001079827.2	NP_001073296.1:p.(Val204=)	NC_000004.11:g.17528618C>T	(Likely) benign	1 lab	0e96d666f2
18:43534517 EPG5 T>C	18	43534517	43534517	T	C	EPG5	c.851A>G	NM_020964.3	NP_066015.2:p.(His284Arg)	NC_000018.9:g.43534517T>C	VUS	1 lab	0e98e19f12
22:18907052 PRODH G>A	22	18907052	18907052	G	A	PRODH	c.1163C>T	NM_016335.4	NP_057419.4:p.(Pro388Leu)	NC_000022.10:g.18907052G>A	VUS	1 lab	0e9cc5559d
X:142718856 SLITRK4 C>T	X	142718856	142718856	C	T	SLITRK4	c.69G>A	NM_001184749.3	NP_001171678.1:p.(Ser23=)	NC_000023.10:g.142718856C>T	(Likely) benign	1 lab	0e9ebae0ac
X:70641233 TAF1 CAGTT>C	X	70641233	70641239	CAGTT	C	TAF1	c.4452+10_4452+13del	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70641236_70641239del	(Likely) benign	1 lab	0e9eecf0f0
6:2948627 SERPINB6 C>T	6	2948627	2948627	C	T	SERPINB6	c.1048G>A	NM_001195291.2	NP_001182220.2:p.(Val350Ile)	NC_000006.11:g.2948627C>T	(Likely) benign	1 lab	0e9f6d2d71
9:21206719 IFNA10 C>T	9	21206719	21206719	C	T	IFNA10	c.378G>A	NM_002171.2	NP_002162.1:p.(Glu126=)	NC_000009.11:g.21206719C>T	(Likely) benign	1 lab	0ea0c31b7c
20:30419885 MYLK2 A>T	20	30419885	30419885	A	T	MYLK2	c.1656A>T	NM_033118.3	NP_149109.1:p.(Arg552=)	NC_000020.10:g.30419885A>T	(Likely) benign	1 lab	0ea3af557a
22:36680216 MYH9 C>A	22	36680216	36680216	C	A	MYH9	c.5688G>T	NM_002473.5	NP_002464.1:p.(Leu1896=)	NC_000022.10:g.36680216C>A	(Likely) benign	1 lab	0ea5822bd4
1:202920073 ADIPOR1 G>A	1	202920073	202920073	G	A	ADIPOR1	c.126C>T	NM_001290557.1	NP_001277486.1:p.(Ile42=)	NC_000001.10:g.202920073G>A	(Likely) benign	1 lab	0ea60aac29
7:19156793 TWIST1 CCCGCGCCGCCGCCCGCGCTGCGCCTGCTG>C	7	19156793	19156823	CCCGCGCCGCCGCCCGCGCTGCGCCTGCTG	C	TWIST1	c.123_151del	NM_000474.4	NP_000465.1:p.(Ser41ArgfsTer187)	NC_000007.13:g.19156795_19156823del	(Likely) pathogenic	1 lab	0ea9bf6851
22:18640435 USP18 G>A	22	18640435	18640435	G	A	USP18	c.5G>A	NM_017414.3	NP_059110.2:p.(Ser2Asn)	NC_000022.10:g.18640435G>A	(Likely) benign	1 lab	0eaaa11ab2
6:152638031 SYNE1 C>G	6	152638031	152638031	C	G	SYNE1	c.16663G>C	NM_182961.3	NP_892006.3:p.(Ala5555Pro)	NC_000006.11:g.152638031C>G	(Likely) benign	1 lab	0eaaf76a8c
X:110555914 DCX G>T	X	110555914	110555914	G	T	DCX	c.982C>A	NM_178153.2	NP_835366.1:p.(Pro328Thr)	NC_000023.10:g.110555914G>T	VUS	1 lab	0ead8cec0c
19:52716214 PPP2R1A G>C	19	52716214	52716214	G	C	PPP2R1A	c.658G>C	NM_014225.5	NP_055040.2:p.(Val220Leu)	NC_000019.9:g.52716214G>C	VUS	1 lab	0eb19056ba
17:78092002 GAA TCA>T	17	78092002	78092006	TCA	T	GAA	c.2495_2496del	NM_000152.5	NP_000143.2:p.(Thr832AsnfsTer51)	NC_000017.10:g.78092005_78092006del	(Likely) pathogenic	1 lab	0eb41835f2
7:82583852 PCLO T>C	7	82583852	82583852	T	C	PCLO	c.6417A>G	NM_033026.5	NP_149015.2:p.(Glu2139=)	NC_000007.13:g.82583852T>C	(Likely) benign	1 lab	0eb4c9b269
16:69726002 NFAT5 A>G	16	69726002	69726002	A	G	NFAT5	c.1992A>G	NM_138714.3	NP_619728.2:p.(Gln664=)	NC_000016.9:g.69726002A>G	(Likely) benign	1 lab	0eb5ef1687
11:119216832 MFRP G>A	11	119216832	119216832	G	A	MFRP	c.195C>T	NM_031433.3	NP_113621.1:p.(Phe65=)	NC_000011.9:g.119216832G>A	(Likely) benign	1 lab	0eb7f1f40d
11:6643753 DCHS1 G>A	11	6643753	6643753	G	A	DCHS1				NC_000011.9:g.6643753G>A	VUS	1 lab	0fb03f21b7
17:72308291 DNAI2 C>A	17	72308291	72308291	C	A	DNAI2	c.1644C>A	NM_023036.5	NP_075462.3:p.(Ala548=)	NC_000017.10:g.72308291C>A	(Likely) benign	1 lab	0eb8be7f67
X:133955554 PABIR3 C>G	X	133955554	133955554	C	G	PABIR3	c.245C>G	NM_001170782.1	NP_001164253.1:p.(Thr82Ser)	NC_000023.10:g.133955554C>G	(Likely) benign	1 lab	0eb9ff21f1
16:30675553 FBRS C>A	16	30675553	30675553	C	A	FBRS	c.1073C>A	NM_001105079.3	NP_001098549.2:p.(Pro358His)	NC_000016.9:g.30675553C>A	VUS	1 lab	0eba20825a
11:1272066 MUC5B G>GACC	11	1272066	1272080	G	GACC	MUC5B	c.13968_13970dup	NM_002458.2	NP_002449.2:p.(Thr4658dup)	NC_000011.9:g.1272078_1272080dup	VUS	1 lab	0ec0fca58a
3:129179814 IFT122 C>A	3	129179814	129179814	C	A	IFT122	c.390C>A	NM_052985.3	NP_443711.2:p.(Cys130Ter)	NC_000003.11:g.129179814C>A	(Likely) pathogenic	1 lab	0ec2237355
11:76890144 MYO7A G>A	11	76890144	76890144	G	A	MYO7A	c.2336G>A	NM_000260.3	NP_000251.3:p.(Arg779Gln)	NC_000011.9:g.76890144G>A	VUS	1 lab	0ec23000df
3:58135649 FLNB G>A	3	58135649	58135649	G	A	FLNB	c.6257G>A	NM_001164317.1	NP_001157789.1:p.(Gly2086Asp)	NC_000003.11:g.58135649G>A	VUS	1 lab	0ec5bcd62e
1:216011445 USH2A C>T	1	216011445	216011445	C	T	USH2A	c.9259G>A	NM_206933.2	NP_996816.2:p.(Val3087Ile)	NC_000001.10:g.216011445C>T	VUS	1 lab	0ec7097d8e
X:70602993 TAF1 G>A	X	70602993	70602993	G	A	TAF1	c.1986G>A	NM_001286074.1	NP_001273003.1:p.(Lys662=)	NC_000023.10:g.70602993G>A	(Likely) benign	1 lab	0ec7e7be81
1:23208859 EPHB2 G>A	1	23208859	23208859	G	A	EPHB2	c.1311G>A	NM_004442.7	NP_004433.2:p.(Ser437=)	NC_000001.10:g.23208859G>A	(Likely) benign	1 lab	0ec92f2156
15:60656683 ANXA2 C>T	15	60656683	60656683	C	T	ANXA2	c.188G>A	NM_001136015.2	NP_001129487.1:p.(Arg63His)	NC_000015.9:g.60656683C>T	(Likely) benign	1 lab	0eca2ef996
12:122825299 CLIP1 C>A	12	122825299	122825299	C	A	CLIP1	c.2451+1G>T	NM_001247997.1	NP_001234926.1:p.?	NC_000012.11:g.122825299C>A	VUS	1 lab	0ecc759dce
14:74769606 ABCD4 C>G	14	74769606	74769606	C	G	ABCD4	c.10G>C	NM_005050.3	NP_005041.1:p.(Ala4Pro)	NC_000014.8:g.74769606C>G	(Likely) benign	1 lab	0ecd4b0921
2:170070321 LRP2 G>A	2	170070321	170070321	G	A	LRP2	c.5886C>T	NM_004525.3	NP_004516.2:p.(His1962=)	NC_000002.11:g.170070321G>A	(Likely) benign	1 lab	0ece5967a0
1:3768890 CEP104 C>G	1	3768890	3768890	C	G	CEP104	c.82G>C	NM_014704.3	NP_055519.1:p.(Ala28Pro)	NC_000001.10:g.3768890C>G	VUS	1 lab	0ed0b69111
X:115568962 SLC6A14 T>C	X	115568962	115568962	T	C	SLC6A14	c.53T>C	NM_007231.4	NP_009162.1:p.(Val18Ala)	NC_000023.10:g.115568962T>C	VUS	1 lab	0ed17dcb68
2:44513249 SLC3A1 C>T	2	44513249	44513249	C	T	SLC3A1	c.844C>T	NM_000341.3	NP_000332.2:p.(Gln282Ter)	NC_000002.11:g.44513249C>T	(Likely) pathogenic	1 lab	0ed39cff1b
X:130411163 IGSF1 G>T	X	130411163	130411163	G	T	IGSF1	c.2373C>A	NM_001170961.1	NP_001164432.1:p.(Ser791Arg)	NC_000023.10:g.130411163G>T	VUS	1 lab	0ed3d57df7
2:47144378 TTC7A C>T	2	47144378	47144378	C	T	TTC7A	c.44C>T	NM_001288953.1	NP_001275882.1:p.(Ser15Phe)	NC_000002.11:g.47144378C>T	(Likely) benign	1 lab	0ed578e6eb
19:52223151 HAS1 G>A	19	52223151	52223151	G	A	HAS1	c.10C>T	NM_001523.3	NP_001514.2:p.(Gln4Ter)	NC_000019.9:g.52223151G>A	VUS	1 lab	0ed60a80dd
12:80935591 MISSING A>G	12	80935591	80935591	A	G	MISSING				NC_000012.11:g.80935591A>G	VUS	1 lab	109c1a8df5
8:144993068 PLEC C>T	8	144993068	144993068	C	T	PLEC	c.11332G>A	NM_201380.3	NP_958782.1:p.(Asp3778Asn)	NC_000008.10:g.144993068C>T	(Likely) benign	1 lab	0ed6251d2a
18:43534607 EPG5 G>A	18	43534607	43534607	G	A	EPG5	c.761C>T	NM_020964.3	NP_066015.2:p.(Pro254Leu)	NC_000018.9:g.43534607G>A	VUS	1 lab	0ed645961f
4:26321518 RBPJ G>A	4	26321518	26321518	G	A	RBPJ	c.-58+8G>A	NM_005349.3	NP_005340.2:p.?	NC_000004.11:g.26321518G>A	(Likely) benign	1 lab	0ed878ae4d
6:86267718 SNX14 C>T	6	86267718	86267718	C	T	SNX14	c.610G>A	NM_153816.5	NP_722523.1:p.(Val204Met)	NC_000006.11:g.86267718C>T	VUS	1 lab	0ed88fc970
11:65826316 SF3B2 A>G	11	65826316	65826316	A	G	SF3B2	c.982A>G	NM_006842.3	NP_006833.2:p.(Arg328Gly)	NC_000011.9:g.65826316A>G	VUS	1 lab	e22e641145
10:55581895 PCDH15 T>C	10	55581895	55581895	T	C	PCDH15	c.5612A>G	NM_001142763.1	NP_001136235.1:p.(Gln1871Arg)	NC_000010.10:g.55581895T>C	VUS	1 lab	0ed95deadd
3:4702715 ITPR1 G>T	3	4702715	4702715	G	T	ITPR1	c.1150G>T	NM_002222.7	NP_002213.5:p.(Val384Phe)	NC_000003.11:g.4702715G>T	VUS	1 lab	e2372e54c7
3:184039373 EIF4G1 C>A	3	184039373	184039373	C	A	EIF4G1	c.1001C>A	NM_182917.4	NP_886553.3:p.(Pro334Gln)	NC_000003.11:g.184039373C>A	VUS	1 lab	0edb67df33
20:10393994 MKKS T>C	20	10393994	10393994	T	C	MKKS	c.169A>G	NM_018848.3	NP_061336.1:p.(Thr57Ala)	NC_000020.10:g.10393994T>C	VUS	1 lab	0edc1d4d95
7:17378890 AHR T>C	7	17378890	17378890	T	C	AHR	c.1441T>C	NM_001621.5	NP_001612.1:p.(Phe481Leu)	NC_000007.13:g.17378890T>C	(Likely) benign	1 lab	0edc32b7cb
X:123026574 XIAP G>A	X	123026574	123026574	G	A	XIAP	c.1057-7G>A	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123026574G>A	(Likely) benign	1 lab	0edc35408f
10:125801927 CHST15 T>C	10	125801927	125801927	T	C	CHST15	c.923A>G	NM_001270764.1	NP_001257693.1:p.(Tyr308Cys)	NC_000010.10:g.125801927T>C	VUS	1 lab	0eddc421ff
16:23706345 ERN2 T>A	16	23706345	23706345	T	A	ERN2	c.1895A>T	NM_033266.4	NP_150296.4:p.(His632Leu)	NC_000016.9:g.23706345T>A	(Likely) benign	1 lab	0ede51939f
7:103141298 RELN G>C	7	103141298	103141298	G	C	RELN	c.8561C>G	NM_173054.2	NP_774959.1:p.(Pro2854Arg)	NC_000007.13:g.103141298G>C	VUS	1 lab	0edf1c9bf1
3:122423596 PARP14 G>A	3	122423596	122423596	G	A	PARP14	c.3540+1G>A	NM_017554.2	NP_060024.2:p.?	NC_000003.11:g.122423596G>A	VUS	1 lab	0ee0bef052
2:119604234 EN1 C>T	2	119604234	119604234	C	T	EN1	c.510G>A	NM_001426.3	NP_001417.3:p.(Leu170=)	NC_000002.11:g.119604234C>T	(Likely) benign	1 lab	0ee21bd194
12:64199095 RXYLT1 G>A	12	64199095	64199095	G	A	RXYLT1	c.825G>A	NM_014254.2	NP_055069.1:p.(Thr275=)	NC_000012.11:g.64199095G>A	(Likely) benign	1 lab	0ee2efa4fb
3:170797327 TNIK C>T	3	170797327	170797327	C	T	TNIK	c.3428G>A	NM_015028.3	NP_055843.1:p.(Gly1143Asp)	NC_000003.11:g.170797327C>T	VUS	1 lab	0ee51cac23
1:237941967 RYR2 G>A	1	237941967	237941967	G	A	RYR2	c.11777G>A	NM_001035.2	NP_001026.2:p.(Gly3926Asp)	NC_000001.10:g.237941967G>A	VUS	1 lab	0ee57f8671
X:10176601 CLCN4 G>A	X	10176601	10176601	G	A	CLCN4	c.1360G>A	NM_001830.3	NP_001821.2:p.(Val454Ile)	NC_000023.10:g.10176601G>A	(Likely) benign	1 lab	0ee76f2827
8:61768679 CHD7 G>A	8	61768679	61768679	G	A	CHD7	c.7082G>A	NM_017780.4	NP_060250.2:p.(Arg2361Lys)	NC_000008.10:g.61768679G>A	(Likely) benign	1 lab	e23b1079ab
17:48650047 CACNA1G C>T	17	48650047	48650047	C	T	CACNA1G	c.879C>T	NM_018896.4	NP_061496.2:p.(Gly293=)	NC_000017.10:g.48650047C>T	(Likely) benign	1 lab	0ee8e4b18f
11:6585331 DNHD1 C>T	11	6585331	6585331	C	T	DNHD1	c.10261C>T	NM_144666.2	NP_653267.2:p.(Arg3421Cys)	NC_000011.9:g.6585331C>T	VUS	1 lab	0ee9ca795d
X:153137713 L1CAM C>T	X	153137713	153137713	C	T	L1CAM	c.294G>A	NM_001278116.1	NP_001265045.1:p.(Thr98=)	NC_000023.10:g.153137713C>T	(Likely) benign	1 lab	0eea4674c8
19:18084769 KCNN1 C>A	19	18084769	18084769	C	A	KCNN1	c.72C>A	NM_002248.4	NP_002239.2:p.(Asp24Glu)	NC_000019.9:g.18084769C>A	(Likely) benign	1 lab	0eea7025a3
16:57957231 CNGB1 G>C	16	57957231	57957231	G	C	CNGB1	c.1589C>G	NM_001297.4	NP_001288.3:p.(Pro530Arg)	NC_000016.9:g.57957231G>C	VUS	1 lab	0eeaeffbf0
14:72190516 SIPA1L1 C>T	14	72190516	72190516	C	T	SIPA1L1	c.4361C>T	NM_001284246.1	NP_001271175.1:p.(Pro1454Leu)	NC_000014.8:g.72190516C>T	VUS	1 lab	0eee98eedb
6:129465081 LAMA2 C>T	6	129465081	129465081	C	T	LAMA2	c.675C>T	NM_000426.3	NP_000417.2:p.(Ala225=)	NC_000006.11:g.129465081C>T	(Likely) benign	1 lab	0ef028a291
8:33370000 TTI2 TCG>T	8	33370000	33370002	TCG	T	TTI2	c.130_131del	NM_001102401.4	NP_001095871.1:p.(Gly45GlnfsTer8)	NC_000008.10:g.33370001_33370002del	VUS	1 lab	0ef0ee16a7
6:112430675 LAMA4 C>G	6	112430675	112430675	C	G	LAMA4	c.5437G>C	NM_001105206.3	NP_001098676.2:p.(Gly1813Arg)	NC_000006.11:g.112430675C>G	VUS	1 lab	e23e84837f
6:33156779 COL11A2 C>T	6	33156779	33156779	C	T	COL11A2	c.419G>A	NM_080680.2	NP_542411.2:p.(Arg140Gln)	NC_000006.11:g.33156779C>T	VUS	1 lab	0ef535dcb3
22:24810547 SPECC1L G>A	22	24810547	24810547	G	A	SPECC1L	c.3310G>A	NM_015330.6	NP_056145.5:p.(Val1104Met)	NC_000022.10:g.24810547G>A	(Likely) benign	1 lab	e24028e8a0
19:42383677 CD79A T>C	19	42383677	42383677	T	C	CD79A	c.452T>C	NM_001783.3	NP_001774.1:p.(Ile151Thr)	NC_000019.9:g.42383677T>C	VUS	1 lab	0ef5c87eda
1:243433438 SDCCAG8 A>G	1	243433438	243433438	A	G	SDCCAG8	c.99A>G	NM_001350248.1	NP_001337177.1:p.(Thr33=)	NC_000001.10:g.243433438A>G	(Likely) benign	1 lab	0ef5fad139
1:3334539 PRDM16 G>A	1	3334539	3334539	G	A	PRDM16	c.2839G>A	NM_022114.3	NP_071397.3:p.(Gly947Ser)	NC_000001.10:g.3334539G>A	VUS	1 lab	0ef6afce09
19:50364929 PNKP G>C	19	50364929	50364929	G	C	PNKP	c.1322C>G	NM_007254.3	NP_009185.2:p.(Ala441Gly)	NC_000019.9:g.50364929G>C	(Likely) benign	1 lab	0ef825580c
1:27876898 AHDC1 C>T	1	27876898	27876898	C	T	AHDC1	c.1729G>A	NM_001029882.3	NP_001025053.1:p.(Ala577Thr)	NC_000001.10:g.27876898C>T	VUS	1 lab	e240852058
15:51233981 AP4E1 G>A	15	51233981	51233981	G	A	AP4E1	c.951+9G>A	NM_001252127.1	NP_001239056.1:p.?	NC_000015.9:g.51233981G>A	(Likely) benign	1 lab	0ef91e984d
17:76475640 DNAH17 C>T	17	76475640	76475640	C	T	DNAH17	c.7827G>A	NM_173628.3	NP_775899.3:p.(Thr2609=)	NC_000017.10:g.76475640C>T	(Likely) benign	1 lab	0ef9940282
19:872018 MED16 T>C	19	872018	872018	T	C	MED16	c.2006A>G	NM_005481.3	NP_005472.2:p.(Lys669Arg)	NC_000019.9:g.872018T>C	VUS	1 lab	0ef9af2a09
8:33361374 TTI2 G>A	8	33361374	33361374	G	A	TTI2	c.1007C>T	NM_025115.3	NP_079391.2:p.(Thr336Ile)	NC_000008.10:g.33361374G>A	VUS	1 lab	0f053ae516
6:42975013 PPP2R5D C>G	6	42975013	42975013	C	G	PPP2R5D	c.149C>G	NM_001270476.1	NP_001257405.1:p.(Pro50Arg)	NC_000006.11:g.42975013C>G	(Likely) pathogenic	1 lab	0efad3f7f9
20:19981393 RIN2 A>T	20	19981393	19981393	A	T	RIN2	c.2648A>T	NM_001242581.1	NP_001229510.1:p.(Tyr883Phe)	NC_000020.10:g.19981393A>T	VUS	1 lab	0efb11f507
2:110936072 NPHP1 T>C	2	110936072	110936072	T	C	NPHP1	c.257A>G	NM_000272.3	NP_000263.2:p.(His86Arg)	NC_000002.11:g.110936072T>C	VUS	1 lab	0efb2fd9fc
11:1263359 MUC5B C>T	11	1263359	1263359	C	T	MUC5B	c.5249C>T	NM_002458.2	NP_002449.2:p.(Thr1750Met)	NC_000011.9:g.1263359C>T	(Likely) benign	1 lab	0efc6d0f55
4:151773850 LRBA T>C	4	151773850	151773850	T	C	LRBA	c.3012A>G	NM_001367550.1	NP_001354479.1:p.(Ala1004=)	NC_000004.11:g.151773850T>C	(Likely) benign	1 lab	0efe7cc588
15:44920922 SPG11 T>C	15	44920922	44920922	T	C	SPG11	c.2012A>G	NM_025137.4	NP_079413.3:p.(His671Arg)	NC_000015.9:g.44920922T>C	VUS	1 lab	e242072121
17:79478380 ACTG1 G>T	17	79478380	79478380	G	T	ACTG1	c.636C>A	NM_001199954.2	NP_001186883.1:p.(Ile212=)	NC_000017.10:g.79478380G>T	(Likely) benign	1 lab	0efee17099
7:51096905 COBL T>C	7	51096905	51096905	T	C	COBL	c.2059A>G	NM_001287436.2	NP_001274365.1:p.(Arg687Gly)	NC_000007.13:g.51096905T>C	(Likely) benign	1 lab	0eff0cbe26
6:90642338 BACH2 G>A	6	90642338	90642338	G	A	BACH2	c.2315C>T	NM_021813.4	NP_068585.1:p.(Pro772Leu)	NC_000006.11:g.90642338G>A	VUS	1 lab	0eff57bad5
17:29652932 NF1 G>T	17	29652932	29652932	G	T	NF1	c.4867G>T	NM_000267.3	NP_000258.1:p.(Asp1623Tyr)	NC_000017.10:g.29652932G>T	(Likely) pathogenic	1 lab	0f06d66522
17:29533256 NF1 A>G	17	29533256	29533256	A	G	NF1	c.1261-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533256A>G	(Likely) pathogenic	1 lab	0f06f1d7de
21:47841987 PCNT G>T	21	47841987	47841987	G	T	PCNT	c.7128G>T	NM_006031.5	NP_006022.3:p.(Gln2376His)	NC_000021.8:g.47841987G>T	(Likely) benign	1 lab	0f08268c6a
17:80044152 FASN C>T	17	80044152	80044152	C	T	FASN	c.3710G>A	NM_004104.5	NP_004095.4:p.(Ser1237Asn)	NC_000017.10:g.80044152C>T	(Likely) benign	1 lab	0f08be5ff7
X:118221932 KIAA1210 C>T	X	118221932	118221932	C	T	KIAA1210	c.3261G>A	NM_020721.1	NP_065772.1:p.(Pro1087=)	NC_000023.10:g.118221932C>T	(Likely) benign	1 lab	0f09c299e7
2:240024554 HDAC4 C>T	2	240024554	240024554	C	T	HDAC4	c.2136G>A	NM_006037.3	NP_006028.2:p.(Gln712=)	NC_000002.11:g.240024554C>T	(Likely) benign	1 lab	0f0b87614d
10:73537629 CDH23 G>A	10	73537629	73537629	G	A	CDH23	c.5038G>A	NM_022124.5	NP_071407.4:p.(Val1680Ile)	NC_000010.10:g.73537629G>A	(Likely) benign	1 lab	0f0bb1e5e6
17:29562940 NF1 ATG>A	17	29562940	29562942	ATG	A	NF1	c.3876_3877del	NM_001042492.3	NP_001035957.1:p.(Tyr1292Ter)	NC_000017.10:g.29562941_29562942del	(Likely) pathogenic	1 lab	0f0ccd04e8
6:152652513 SYNE1 C>T	6	152652513	152652513	C	T	SYNE1	c.13307G>A	NM_182961.3	NP_892006.3:p.(Cys4436Tyr)	NC_000006.11:g.152652513C>T	VUS	1 lab	0f0e8ed4c2
11:117693403 FXYD2 A>G	11	117693403	117693403	A	G	FXYD2	c.55T>C	NM_001680.5	NP_001671.2:p.(Phe19Leu)	NC_000011.9:g.117693403A>G	(Likely) benign	1 lab	0f0ec02d51
12:52913551 KRT5 T>C	12	52913551	52913551	T	C	KRT5	c.530A>G	NM_000424.4	NP_000415.2:p.(Asn177Ser)	NC_000012.11:g.52913551T>C	(Likely) pathogenic	1 lab	e24976126d
X:53436405 SMC1A A>C	X	53436405	53436405	A	C	SMC1A	c.1218T>G	NM_001281463.1	NP_001268392.1:p.(Ile406Met)	NC_000023.10:g.53436405A>C	(Likely) benign	1 lab	0f123f2cee
10:134726620 CFAP46 C>T	10	134726620	134726620	C	T	CFAP46	c.2263G>A	NM_001200049.3	NP_001186978.2:p.(Gly755Arg)	NC_000010.10:g.134726620C>T	VUS	1 lab	0f13165c3d
2:38301982 CYP1B1 C>A	2	38301982	38301982	C	A	CYP1B1	c.550G>T	NM_000104.3	NP_000095.2:p.(Gly184Cys)	NC_000002.11:g.38301982C>A	VUS	1 lab	0f150ce34d
7:154379646 MISSING C>T	7	154379646	154379646	C	T	MISSING				NC_000007.13:g.154379646C>T	(Likely) benign	1 lab	10ea159c91
1:103352520 COL11A1 A>G	1	103352520	103352520	A	G	COL11A1	c.4737T>C	NM_080629.2	NP_542196.2:p.(Asp1579=)	NC_000001.10:g.103352520A>G	(Likely) benign	1 lab	0f15909164
10:98079027 DNTT A>G	10	98079027	98079027	A	G	DNTT	c.387A>G	NM_001017520.1	NP_001017520.1:p.(Arg129=)	NC_000010.10:g.98079027A>G	(Likely) benign	1 lab	0f15c62d38
14:23871952 MYH6 A>G	14	23871952	23871952	A	G	MYH6	c.956T>C	NM_002471.3	NP_002462.2:p.(Val319Ala)	NC_000014.8:g.23871952A>G	(Likely) benign	1 lab	0f1628a052
9:123731355 C5 T>C	9	123731355	123731355	T	C	C5	c.4222A>G	NM_001317163.1	NP_001304092.1:p.(Ile1408Val)	NC_000009.11:g.123731355T>C	VUS	1 lab	0f169836f1
17:4837715 GP1BA C>T	17	4837715	4837715	C	T	GP1BA	c.1816C>T	NM_000173.5	NP_000164.5:p.(Arg606Cys)	NC_000017.10:g.4837715C>T	VUS	1 lab	0f24539654
17:7606604 WRAP53 C>T	17	7606604	7606604	C	T	WRAP53	c.1447C>T	NM_018081.2	NP_060551.2:p.(Arg483Cys)	NC_000017.10:g.7606604C>T	VUS	1 lab	0f25fc289f
12:105425650 ALDH1L2 G>A	12	105425650	105425650	G	A	ALDH1L2	c.2307C>T	NM_001034173.3	NP_001029345.2:p.(Pro769=)	NC_000012.11:g.105425650G>A	(Likely) benign	1 lab	0f172097d0
10:106025891 GSTO1 T>C	10	106025891	106025891	T	C	GSTO1	c.431T>C	NM_001191003.1	NP_001177932.1:p.(Met144Thr)	NC_000010.10:g.106025891T>C	VUS	1 lab	0f178ecea2
16:72845592 ZFHX3 G>A	16	72845592	72845592	G	A	ZFHX3	c.3748C>T	NM_006885.3	NP_008816.3:p.(Pro1250Ser)	NC_000016.9:g.72845592G>A	VUS	1 lab	0f1823f478
9:16020 WASHC1 A>G	9	16020	16020	A	G	WASHC1	c.1084T>C	NM_182905.4	NP_878908.4:p.(Trp362Arg)	NC_000009.11:g.16020A>G	(Likely) benign	1 lab	0f1909e02c
17:78184319 SGSH A>ACACC	17	78184319	78184325	A	ACACC	SGSH	c.1437_1440dup	NM_000199.4	NP_000190.1:p.(Cys481GlyfsTer22)	NC_000017.10:g.78184322_78184325dup	(Likely) pathogenic	1 lab	0f193cb9e6
17:4448147 MYBBP1A C>T	17	4448147	4448147	C	T	MYBBP1A	c.2380G>A	NM_014520.3	NP_055335.2:p.(Ala794Thr)	NC_000017.10:g.4448147C>T	VUS	1 lab	0f1a5f16ab
12:14822659 GUCY2C G>A	12	14822659	14822659	G	A	GUCY2C	c.1279C>T	NM_004963.3	NP_004954.2:p.(Arg427Trp)	NC_000012.11:g.14822659G>A	VUS	1 lab	0f1b001a16
7:128033072 IMPDH1 G>A	7	128033072	128033072	G	A	IMPDH1	c.1789C>T	NM_000883.3	NP_000874.2:p.(Arg597Trp)	NC_000007.13:g.128033072G>A	VUS	1 lab	0f1c95e6e6
4:650672 PDE6B C>G	4	650672	650672	C	G	PDE6B	c.1117C>G	NM_000283.3	NP_000274.2:p.(Leu373Val)	NC_000004.11:g.650672C>G	(Likely) benign	1 lab	0f1e4ba711
5:140502466 PCDHB4 G>C	5	140502466	140502466	G	C	PCDHB4	c.886G>C	NM_018938.3	NP_061761.1:p.(Val296Leu)	NC_000005.9:g.140502466G>C	VUS	1 lab	0f23097ded
17:29562721 NF1 GGCAGACTCCAT>G	17	29562721	29562740	GGCAGACTCCAT	G	NF1	c.3810_3820del	NM_001042492.3	NP_001035957.1:p.(Met1271LeufsTer9)	NC_000017.10:g.29562730_29562740del	(Likely) pathogenic	1 lab	0f29af2ecb
8:48874162 MCM4 A>G	8	48874162	48874162	A	G	MCM4	c.157A>G	NM_005914.4	NP_005905.2:p.(Thr53Ala)	NC_000008.10:g.48874162A>G	(Likely) benign	1 lab	0f29c7f854
4:100530080 MTTP A>G	4	100530080	100530080	A	G	MTTP	c.1715A>G	NM_000253.3	NP_000244.2:p.(Asn572Ser)	NC_000004.11:g.100530080A>G	(Likely) benign	1 lab	0f2beafe6b
X:140969560 MAGEC3 G>T	X	140969560	140969560	G	T	MAGEC3	c.887G>T	NM_138702.1	NP_619647.1:p.(Trp296Leu)	NC_000023.10:g.140969560G>T	VUS	1 lab	0f2dfa8e60
4:153273871 FBXW7 C>T	4	153273871	153273871	C	T	FBXW7	c.12G>A	NM_018315.5	NP_060785.2:p.(Pro4=)	NC_000004.11:g.153273871C>T	(Likely) benign	1 lab	0f2e75e4a5
9:94493321 ROR2 T>C	9	94493321	94493321	T	C	ROR2	c.1054A>G	NM_004560.3	NP_004551.2:p.(Ser352Gly)	NC_000009.11:g.94493321T>C	(Likely) benign	1 lab	0f2ffb08af
X:73965458 NEXMIF C>T	X	73965458	73965458	C	T	NEXMIF	c.28G>A	NM_001008537.2	NP_001008537.1:p.(Val10Ile)	NC_000023.10:g.73965458C>T	(Likely) benign	1 lab	0f30ef0d72
17:11726134 DNAH9 C>T	17	11726134	11726134	C	T	DNAH9	c.9029C>T	NM_001372.3	NP_001363.2:p.(Ser3010Leu)	NC_000017.10:g.11726134C>T	VUS	1 lab	0f32607a29
17:29553655 NF1 AT>A	17	29553655	29553656	AT	A	NF1	c.2205del	NM_001042492.3	NP_001035957.1:p.(Tyr735Ter)	NC_000017.10:g.29553656del	(Likely) pathogenic	1 lab	0f32920d06
6:145051599 UTRN G>A	6	145051599	145051599	G	A	UTRN	c.7916G>A	NM_007124.2	NP_009055.2:p.(Arg2639Lys)	NC_000006.11:g.145051599G>A	(Likely) benign	1 lab	0f3641f2e9
18:67872876 RTTN T>C	18	67872876	67872876	T	C	RTTN	c.19A>G	NM_173630.3	NP_775901.3:p.(Ile7Val)	NC_000018.9:g.67872876T>C	VUS	1 lab	0f373a805e
13:52536036 ATP7B T>C	13	52536036	52536036	T	C	ATP7B	c.1883A>G	NM_000053.3	NP_000044.2:p.(His628Arg)	NC_000013.10:g.52536036T>C	(Likely) benign	1 lab	0f39acf1aa
21:47832809 PCNT G>T	21	47832809	47832809	G	T	PCNT	c.6053G>T	NM_006031.5	NP_006022.3:p.(Gly2018Val)	NC_000021.8:g.47832809G>T	(Likely) benign	1 lab	0f3aadcaae
3:195594873 TNK2 G>A	3	195594873	195594873	G	A	TNK2	c.2251C>T	NM_005781.4	NP_005772.3:p.(Arg751Cys)	NC_000003.11:g.195594873G>A	VUS	1 lab	0f3e0bcb1a
4:88537159 DSPP T>C	4	88537159	88537159	T	C	DSPP	c.3345T>C	NM_014208.3	NP_055023.2:p.(Ser1115=)	NC_000004.11:g.88537159T>C	(Likely) benign	1 lab	0f3ed2fe41
14:68249899 ZFYVE26 A>T	14	68249899	68249899	A	T	ZFYVE26	c.3970T>A	NM_015346.3	NP_056161.2:p.(Ser1324Thr)	NC_000014.8:g.68249899A>T	(Likely) benign	1 lab	0f3fe4efbf
16:20357506 UMOD C>T	16	20357506	20357506	C	T	UMOD	c.1223G>A	NM_001278614.1	NP_001265543.1:p.(Arg408Gln)	NC_000016.9:g.20357506C>T	(Likely) benign	1 lab	0f405fe279
13:110817264 COL4A1 C>T	13	110817264	110817264	C	T	COL4A1	c.4095G>A	NM_001845.5	NP_001836.3:p.(Glu1365=)	NC_000013.10:g.110817264C>T	(Likely) benign	1 lab	0f414920eb
12:80239147 PPP1R12A G>A	12	80239147	80239147	G	A	PPP1R12A	c.422C>T	NM_001244990.2	NP_001231919.1:p.(Thr141Ile)	NC_000012.11:g.80239147G>A	VUS	1 lab	e250f52a44
21:46925149 COL18A1 A>C	21	46925149	46925149	A	C	COL18A1	c.4206A>C	NM_130444.3	NP_569711.2:p.(Pro1402=)	NC_000021.8:g.46925149A>C	(Likely) benign	1 lab	0f423d82cc
1:228469781 OBSCN G>A	1	228469781	228469781	G	A	OBSCN	c.9632G>A	NM_001271223.2	NP_001258152.2:p.(Arg3211His)	NC_000001.10:g.228469781G>A	(Likely) benign	1 lab	0f426877ac
2:74589212 DCTN1 G>A	2	74589212	74589212	G	A	DCTN1	c.3666C>T	NM_004082.4	NP_004073.2:p.(Asp1222=)	NC_000002.11:g.74589212G>A	(Likely) benign	1 lab	0f43e0a781
2:179523210 TTN C>T	2	179523210	179523210	C	T	TTN	c.37612G>A	NM_001267550.1	NP_001254479.1:p.(Ala12538Thr)	NC_000002.11:g.179523210C>T	VUS	1 lab	0f4616b9d5
9:14805057 FREM1 A>G	9	14805057	14805057	A	G	FREM1	c.3368T>C	NM_144966.5	NP_659403.4:p.(Val1123Ala)	NC_000009.11:g.14805057A>G	VUS	1 lab	0f47d34835
20:57766887 ZNF831 C>T	20	57766887	57766887	C	T	ZNF831	c.813C>T	NM_178457.2	NP_848552.1:p.(Ser271=)	NC_000020.10:g.57766887C>T	(Likely) benign	1 lab	0f480f6087
12:49424729 KMT2D G>A	12	49424729	49424729	G	A	KMT2D	c.13618C>T	NM_003482.3	NP_003473.3:p.(Arg4540Trp)	NC_000012.11:g.49424729G>A	VUS	1 lab	0f4833d7d2
17:41102652 AARSD1 C>T	17	41102652	41102652	C	T	AARSD1	c.1197G>A	NM_001261434.2	NP_001248363.1:p.(Ala399=)	NC_000017.10:g.41102652C>T	(Likely) benign	1 lab	0f483bc6c3
5:37170195 CPLANE1 T>C	5	37170195	37170195	T	C	CPLANE1	c.6410A>G	NM_023073.3	NP_075561.3:p.(His2137Arg)	NC_000005.9:g.37170195T>C	VUS	1 lab	0f4b2e17c6
16:1260021 CACNA1H G>T	16	1260021	1260021	G	T	CACNA1H	c.3745-14G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260021G>T	(Likely) benign	1 lab	e25a4d8842
12:40707777 LRRK2 C>T	12	40707777	40707777	C	T	LRRK2	c.4540C>T	NM_198578.3	NP_940980.3:p.(Arg1514Ter)	NC_000012.11:g.40707777C>T	VUS	1 lab	0f4c761cb3
9:136536685 SARDH G>A	9	136536685	136536685	G	A	SARDH	c.2298C>T	NM_007101.3	NP_009032.2:p.(Arg766=)	NC_000009.11:g.136536685G>A	(Likely) benign	1 lab	0f4c9cc784
X:70683768 TAF1 G>A	X	70683768	70683768	G	A	TAF1	c.5560G>A	NM_001286074.1	NP_001273003.1:p.(Asp1854Asn)	NC_000023.10:g.70683768G>A	VUS	1 lab	0f4cb18a75
6:15652312 DTNBP1 G>T	6	15652312	15652312	G	T	DTNBP1	c.110+6C>A	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15652312G>T	(Likely) benign	1 lab	0f4d0454d6
2:179435219 TTN TAAC>T	2	179435219	179435226	TAAC	T	TTN	c.75637_75639del	NM_001267550.2	NP_001254479.2:p.(Val25213del)	NC_000002.11:g.179435224_179435226del	VUS	1 lab	0f4e48225b
X:106144047 RIPPLY1 G>A	X	106144047	106144047	G	A	RIPPLY1	c.388C>T	NM_138382.2	NP_612391.1:p.(Leu130=)	NC_000023.10:g.106144047G>A	(Likely) benign	1 lab	0f4f41a7fa
15:28419587 HERC2 G>A	15	28419587	28419587	G	A	HERC2	c.10011C>T	NM_004667.5	NP_004658.3:p.(Pro3337=)	NC_000015.9:g.28419587G>A	(Likely) benign	1 lab	0f4fbb2654
3:147128304 ZIC1 G>A	3	147128304	147128304	G	A	ZIC1	c.405G>A	NM_003412.3	NP_003403.2:p.(Thr135=)	NC_000003.11:g.147128304G>A	(Likely) benign	1 lab	0f50c52961
4:39226512 WDR19 C>T	4	39226512	39226512	C	T	WDR19	c.1488C>T	NM_025132.3	NP_079408.3:p.(Val496=)	NC_000004.11:g.39226512C>T	(Likely) benign	1 lab	0f53c2a016
X:99925869 SRPX2 G>A	X	99925869	99925869	G	A	SRPX2	c.1283G>A	NM_014467.2	NP_055282.1:p.(Arg428Gln)	NC_000023.10:g.99925869G>A	VUS	1 lab	0f552ad7be
1:183091047 LAMC1 A>G	1	183091047	183091047	A	G	LAMC1	c.2180A>G	NM_002293.3	NP_002284.3:p.(Asn727Ser)	NC_000001.10:g.183091047A>G	VUS	1 lab	0f553bd1b0
6:143093092 HIVEP2 G>C	6	143093092	143093092	G	C	HIVEP2	c.2784C>G	NM_006734.3	NP_006725.3:p.(Ser928=)	NC_000006.11:g.143093092G>C	(Likely) benign	1 lab	0f56e004e7
17:21319792 KCNJ12 G>A	17	21319792	21319792	G	A	KCNJ12	c.1138G>A	NM_021012.5	NP_066292.2:p.(Glu380Lys)	NC_000017.10:g.21319792G>A	(Likely) benign	1 lab	e25c4488e6
12:11546554 PRB2 G>T	12	11546554	11546554	G	T	PRB2	c.458C>A	NM_006248.4	NP_006239.3:p.(Pro153His)	NC_000012.11:g.11546554G>T	(Likely) benign	1 lab	0f5a32ec17
3:100964885 IMPG2 AGTG>A	3	100964885	100964892	AGTG	A	IMPG2	c.1301_1303del	NM_016247.4	NP_057331.2:p.(Pro434del)	NC_000003.11:g.100964890_100964892del	VUS	1 lab	0f5a4eac34
17:29508428 NF1 T>A	17	29508428	29508428	T	A	NF1	c.587-12T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508428T>A	VUS	1 lab	0f5b49af77
7:1516465 INTS1 G>A	7	1516465	1516465	G	A	INTS1	c.5028C>T	NM_001080453.3	NP_001073922.2:p.(Cys1676=)	NC_000007.13:g.1516465G>A	(Likely) benign	1 lab	0f5bcca9b9
16:88804736 PIEZO1 G>A	16	88804736	88804736	G	A	PIEZO1	c.747C>T	NM_001142864.4	NP_001136336.2:p.(Cys249=)	NC_000016.9:g.88804736G>A	(Likely) benign	1 lab	0f5f4f705b
2:220083316 ABCB6 A>C	2	220083316	220083316	A	C	ABCB6	c.80T>G	NM_005689.2	NP_005680.1:p.(Phe27Cys)	NC_000002.11:g.220083316A>C	(Likely) benign	1 lab	0f5fac202c
17:1554178 PRPF8 T>C	17	1554178	1554178	T	C	PRPF8	c.6926A>G	NM_006445.3	NP_006436.3:p.(His2309Arg)	NC_000017.10:g.1554178T>C	(Likely) pathogenic	1 lab	0f5fe681bc
2:179642516 TTN A>G	2	179642516	179642516	A	G	TTN	c.4395T>C	NM_001267550.1	NP_001254479.1:p.(Ser1465=)	NC_000002.11:g.179642516A>G	(Likely) benign	1 lab	0f60719c7b
5:37180263 CPLANE1 T>G	5	37180263	37180263	T	G	CPLANE1	c.5593A>C	NM_023073.3	NP_075561.3:p.(Asn1865His)	NC_000005.9:g.37180263T>G	VUS	1 lab	0f612ac1a8
5:90059236 ADGRV1 A>G	5	90059236	90059236	A	G	ADGRV1	c.12235A>G	NM_032119.4	NP_115495.3:p.(Lys4079Glu)	NC_000005.9:g.90059236A>G	(Likely) benign	1 lab	0f612eedfb
17:73761186 GALK1 T>A	17	73761186	73761186	T	A	GALK1	c.32A>T	NM_000154.1	NP_000145.1:p.(Glu11Val)	NC_000017.10:g.73761186T>A	VUS	1 lab	0f63845151
2:27880474 SUPT7L G>T	2	27880474	27880474	G	T	SUPT7L	c.476C>A	NM_001282730.1	NP_001269659.1:p.(Ala159Glu)	NC_000002.11:g.27880474G>T	(Likely) benign	1 lab	0f6460815c
19:3618945 CACTIN G>A	19	3618945	3618945	G	A	CACTIN	c.1090C>T	NM_001080543.2	NP_001074012.1:p.(Arg364Trp)	NC_000019.9:g.3618945G>A	VUS	1 lab	0f6507cbeb
X:5821522 NLGN4X C>G	X	5821522	5821522	C	G	NLGN4X	c.1197G>C	NM_001282145.1	NP_001269074.1:p.(Val399=)	NC_000023.10:g.5821522C>G	(Likely) benign	1 lab	0f650cfe09
8:48802991 PRKDC T>C	8	48802991	48802991	T	C	PRKDC	c.3898A>G	NM_006904.6	NP_008835.5:p.(Ser1300Gly)	NC_000008.10:g.48802991T>C	(Likely) benign	1 lab	0f65c2aa2a
11:1266832 MUC5B G>A	11	1266832	1266832	G	A	MUC5B	c.8722G>A	NM_002458.2	NP_002449.2:p.(Val2908Ile)	NC_000011.9:g.1266832G>A	(Likely) benign	1 lab	0f66d72c7b
1:152281778 FLG T>G	1	152281778	152281778	T	G	FLG	c.5584A>C	NM_002016.1	NP_002007.1:p.(Arg1862=)	NC_000001.10:g.152281778T>G	(Likely) benign	1 lab	0f67929b1b
21:46888345 COL18A1 G>A	21	46888345	46888345	G	A	COL18A1	c.1541G>A	NM_130444.3	NP_569711.2:p.(Arg514Gln)	NC_000021.8:g.46888345G>A	VUS	1 lab	0f6892a973
11:45946339 LARGE2 C>T	11	45946339	45946339	C	T	LARGE2	c.668C>T	NM_001300721.2	NP_001287650.1:p.(Thr223Met)	NC_000011.9:g.45946339C>T	VUS	1 lab	0f69e187ad
1:13718438 PRAMEF17 T>A	1	13718438	13718438	T	A	PRAMEF17	c.901T>A	NM_001099851.3	NP_001093321.1:p.(Cys301Ser)	NC_000001.10:g.13718438T>A	(Likely) benign	1 lab	0f6e615af9
X:11136641 HCCS A>G	X	11136641	11136641	A	G	HCCS	c.422A>G	NM_005333.5	NP_005324.3:p.(Asp141Gly)	NC_000023.10:g.11136641A>G	VUS	1 lab	0f6eec804a
10:112838772 ADRA2A C>G	10	112838772	112838772	C	G	ADRA2A	c.1018C>G	NM_000681.3	NP_000672.3:p.(Gln340Glu)	NC_000010.10:g.112838772C>G	VUS	1 lab	0f70aa6e53
7:5770454 RNF216 G>A	7	5770454	5770454	G	A	RNF216	c.1122-6C>T	NM_207111.3	NP_996994.1:p.?	NC_000007.13:g.5770454G>A	(Likely) benign	1 lab	0f72853b03
1:89726456 GBP5 T>C	1	89726456	89726456	T	C	GBP5	c.1692A>G	NM_052942.3	NP_443174.1:p.(Arg564=)	NC_000001.10:g.89726456T>C	(Likely) benign	1 lab	0f731cad36
2:166770134 TTC21B T>G	2	166770134	166770134	T	G	TTC21B	c.2161A>C	NM_024753.4	NP_079029.3:p.(Asn721His)	NC_000002.11:g.166770134T>G	VUS	1 lab	0f73ee4cc7
15:23049018 NIPA1 C>T	15	23049018	23049018	C	T	NIPA1	c.801G>A	NM_144599.4	NP_653200.2:p.(Val267=)	NC_000015.9:g.23049018C>T	(Likely) benign	1 lab	0f742281a8
10:16981069 CUBN A>C	10	16981069	16981069	A	C	CUBN	c.5626T>G	NM_001081.3	NP_001072.2:p.(Ser1876Ala)	NC_000010.10:g.16981069A>C	VUS	1 lab	0f7488bd55
5:89990183 ADGRV1 GTTTTCTAAT>G	5	89990183	89990194	GTTTTCTAAT	G	ADGRV1	c.7613_7621del	NM_032119.4	NP_115495.3:p.(Phe2538_Ile2540del)	NC_000005.9:g.89990186_89990194del	VUS	1 lab	0f754aa68d
9:6534753 GLDC G>A	9	6534753	6534753	G	A	GLDC	c.2874C>T	NM_000170.2	NP_000161.2:p.(Ser958=)	NC_000009.11:g.6534753G>A	(Likely) benign	1 lab	0f75ac2636
17:29676208 NF1 T>TAACA	17	29676208	29676216	T	TAACA	NF1	c.7202_7205dup	NM_000267.3	NP_000258.1:p.(His2402GlnfsTer6)	NC_000017.10:g.29676213_29676216dup	(Likely) pathogenic	1 lab	0f7745e079
19:11558413 PRKCSH G>A	19	11558413	11558413	G	A	PRKCSH	c.1009G>A	NM_001289103.1	NP_001276032.1:p.(Val337Met)	NC_000019.9:g.11558413G>A	(Likely) benign	1 lab	0f78231ed4
16:88789249 PIEZO1 AGGAGCTCCTGTGTGAGGAGGTAGCGCTCTGCCCGCAGCACGTCGCTCATG>A	16	88789249	88789300	AGGAGCTCCTGTGTGAGGAGGTAGCGCTCTGCCCGCAGCACGTCGCTCATG	A	PIEZO1	c.4614_4663del	NM_001142864.4	NP_001136336.2:p.(Met1539AlafsTer67)	NC_000016.9:g.88789251_88789300del	(Likely) pathogenic	1 lab	0f79fff90e
11:78433851 TENM4 T>C	11	78433851	78433851	T	C	TENM4	c.3662A>G	NM_001098816.2	NP_001092286.2:p.(Asn1221Ser)	NC_000011.9:g.78433851T>C	VUS	1 lab	0f7a0fdb51
3:73016729 GXYLT2 C>T	3	73016729	73016729	C	T	GXYLT2	c.1008C>T	NM_001080393.1	NP_001073862.1:p.(Asn336=)	NC_000003.11:g.73016729C>T	(Likely) benign	1 lab	0f7a9252d0
13:110826988 COL4A1 C>T	13	110826988	110826988	C	T	COL4A1	c.3307G>A	NM_001845.5	NP_001836.3:p.(Gly1103Arg)	NC_000013.10:g.110826988C>T	(Likely) pathogenic	1 lab	0f7b215763
6:49425601 MMUT T>C	6	49425601	49425601	T	C	MMUT	c.556A>G	NM_000255.3	NP_000246.2:p.(Met186Val)	NC_000006.11:g.49425601T>C	VUS	1 lab	0f7d834b63
16:321291 RGS11 C>G	16	321291	321291	C	G	RGS11	c.710G>C	NM_003834.2	NP_003825.1:p.(Arg237Pro)	NC_000016.9:g.321291C>G	(Likely) benign	1 lab	0f82a55053
9:140001877 MAN1B1 G>A	9	140001877	140001877	G	A	MAN1B1	c.1742G>A	NM_016219.5	NP_057303.2:p.(Gly581Asp)	NC_000009.11:g.140001877G>A	(Likely) benign	1 lab	e265b8ebcd
3:132175539 DNAJC13 C>T	3	132175539	132175539	C	T	DNAJC13	c.1212C>T	NM_015268.4	NP_056083.3:p.(Ile404=)	NC_000003.11:g.132175539C>T	(Likely) benign	1 lab	0f84e2e3d3
2:238234209 COL6A3 C>T	2	238234209	238234209	C	T	COL6A3	c.9487G>A	NM_004369.3	NP_004360.2:p.(Ala3163Thr)	NC_000002.11:g.238234209C>T	(Likely) benign	1 lab	0f86ec2460
17:18023225 MYO15A C>A	17	18023225	18023225	C	A	MYO15A	c.1111C>A	NM_016239.3	NP_057323.3:p.(Pro371Thr)	NC_000017.10:g.18023225C>A	(Likely) benign	1 lab	0f877a37fc
5:45396653 HCN1 C>T	5	45396653	45396653	C	T	HCN1	c.1171G>A	NM_021072.3	NP_066550.2:p.(Gly391Ser)	NC_000005.9:g.45396653C>T	(Likely) pathogenic	1 lab	0f87b018c6
12:105512269 WASHC4 G>A	12	105512269	105512269	G	A	WASHC4	c.481G>A	NM_015275.3	NP_056090.1:p.(Val161Ile)	NC_000012.11:g.105512269G>A	VUS	1 lab	e267bf631a
14:23993595 ZFHX2 G>A	14	23993595	23993595	G	A	ZFHX2	c.5556C>T	NM_033400.3	NP_207646.2:p.(Gly1852=)	NC_000014.8:g.23993595G>A	(Likely) benign	1 lab	0f8ad3f3b9
2:233656162 GIGYF2 T>C	2	233656162	233656162	T	C	GIGYF2	c.1282+6T>C	NM_015575.3	NP_056390.2:p.?	NC_000002.11:g.233656162T>C	VUS	1 lab	0f8c004035
9:114456228 SHOC1 C>T	9	114456228	114456228	C	T	SHOC1	c.3316G>A	NM_001378211.1	NP_001365140.1:p.(Glu1106Lys)	NC_000009.11:g.114456228C>T	VUS	1 lab	e27681d501
3:5244744 EDEM1 C>T	3	5244744	5244744	C	T	EDEM1	c.952C>T	NM_014674.3	NP_055489.1:p.(Arg318Ter)	NC_000003.11:g.5244744C>T	VUS	1 lab	0f8ec5cfc6
8:10468028 RP1L1 T>A	8	10468028	10468028	T	A	RP1L1	c.3580A>T	NM_178857.5	NP_849188.4:p.(Thr1194Ser)	NC_000008.10:g.10468028T>A	VUS	1 lab	0f8f6034e4
3:147130430 ZIC1 T>G	3	147130430	147130430	T	G	ZIC1	c.1108T>G	NM_003412.3	NP_003403.2:p.(Ser370Ala)	NC_000003.11:g.147130430T>G	VUS	1 lab	0f8fc558a7
10:101995477 CWF19L1 T>G	10	101995477	101995477	T	G	CWF19L1	c.1008A>C	NM_001303405.1	NP_001290334.1:p.(Thr336=)	NC_000010.10:g.101995477T>G	(Likely) benign	1 lab	0f906abc90
7:121942156 FEZF1 C>T	7	121942156	121942156	C	T	FEZF1	c.1323G>A	NM_001024613.3	NP_001019784.2:p.(Pro441=)	NC_000007.13:g.121942156C>T	(Likely) benign	1 lab	0f90ccf592
1:240341353 FMN2 G>A	1	240341353	240341353	G	A	FMN2	c.1915G>A	NM_001305424.2	NP_001292353.1:p.(Glu639Lys)	NC_000001.10:g.240341353G>A	(Likely) benign	1 lab	e277e812a9
20:3016535 PTPRA G>A	20	3016535	3016535	G	A	PTPRA	c.2146G>A	NM_002836.3	NP_002827.1:p.(Val716Met)	NC_000020.10:g.3016535G>A	VUS	1 lab	0f9222823a
11:36614203 RAG2 G>A	11	36614203	36614203	G	A	RAG2	c.1516C>T	NM_001243786.2	NP_001230715.1:p.(Arg506Cys)	NC_000011.9:g.36614203G>A	VUS	1 lab	e27c62adfc
21:45929090 TSPEAR G>A	21	45929090	45929090	G	A	TSPEAR	c.1542C>T	NM_001272037.1	NP_001258966.1:p.(Leu514=)	NC_000021.8:g.45929090G>A	(Likely) benign	1 lab	0f93beed2b
20:61459319 COL9A3 C>T	20	61459319	61459319	C	T	COL9A3	c.891C>T	NM_001853.4	NP_001844.3:p.(Ser297=)	NC_000020.10:g.61459319C>T	(Likely) benign	1 lab	0f94d34898
17:29550537 NF1 G>A	17	29550537	29550537	G	A	NF1	c.1797G>A	NM_000267.3	NP_000258.1:p.(Trp599Ter)	NC_000017.10:g.29550537G>A	(Likely) pathogenic	1 lab	0f9586bf68
1:3328646 PRDM16 G>A	1	3328646	3328646	G	A	PRDM16	c.1885G>A	NM_022114.3	NP_071397.3:p.(Val629Met)	NC_000001.10:g.3328646G>A	VUS	1 lab	0f962312c7
21:35239608 ITSN1 A>G	21	35239608	35239608	A	G	ITSN1	c.4131A>G	NM_001331010.1	NP_001317939.1:p.(Val1377=)	NC_000021.8:g.35239608A>G	(Likely) benign	1 lab	0f964013a7
20:17479609 BFSP1 A>G	20	17479609	17479609	A	G	BFSP1	c.812T>C	NM_001195.4	NP_001186.1:p.(Ile271Thr)	NC_000020.10:g.17479609A>G	VUS	1 lab	0f98624db3
X:54585046 GNL3L G>A	X	54585046	54585046	G	A	GNL3L	c.1624G>A	NM_001184819.2	NP_001171748.1:p.(Ala542Thr)	NC_000023.10:g.54585046G>A	(Likely) benign	1 lab	0f9895f290
X:24024394 KLHL15 G>C	X	24024394	24024394	G	C	KLHL15	c.417C>G	NM_030624.2	NP_085127.2:p.(Leu139=)	NC_000023.10:g.24024394G>C	(Likely) benign	1 lab	0f98fd04f3
2:179528784 TTN A>T	2	179528784	179528784	A	T	TTN	c.36322T>A	NM_001267550.1	NP_001254479.1:p.(Ser12108Thr)	NC_000002.11:g.179528784A>T	VUS	1 lab	0f995a2de5
17:44374696 LRRC37A A>G	17	44374696	44374696	A	G	LRRC37A	c.2197A>G	NM_014834.4	NP_055649.4:p.(Thr733Ala)	NC_000017.10:g.44374696A>G	(Likely) benign	1 lab	0f9da75496
7:149558588 ZNF862 G>A	7	149558588	149558588	G	A	ZNF862	c.2339G>A	NM_001099220.2	NP_001092690.1:p.(Arg780His)	NC_000007.13:g.149558588G>A	(Likely) benign	1 lab	0f9e6c4a6e
X:153214810 HCFC1 G>A	X	153214810	153214810	G	A	HCFC1	c.6096C>T	NM_005334.2	NP_005325.2:p.(Ala2032=)	NC_000023.10:g.153214810G>A	(Likely) benign	1 lab	0f9f8bfec9
17:13972923 COX10 A>G	17	13972923	13972923	A	G	COX10	c.1A>G	NM_001303.3	NP_001294.2:p.(Met1?)	NC_000017.10:g.13972923A>G	VUS	1 lab	0fa048e782
3:48508835 TREX1 AG>A	3	48508835	48508836	AG	A	TREX1	c.782del	NM_033629.6	NP_338599.1:p.(Ser261IlefsTer16)	NC_000003.11:g.48508836del	(Likely) pathogenic	1 lab	0fa08713fd
1:116247865 CASQ2 G>C	1	116247865	116247865	G	C	CASQ2	c.887C>G	NM_001232.3	NP_001223.2:p.(Thr296Ser)	NC_000001.10:g.116247865G>C	VUS	1 lab	0fa1487e55
2:88885385 EIF2AK3 TGC>T	2	88885385	88885389	TGC	T	EIF2AK3	c.1622_1623del	NM_004836.7	NP_004827.4:p.(Arg541GlnfsTer15)	NC_000002.11:g.88885388_88885389del	(Likely) pathogenic	1 lab	0fa27a6acf
11:64508512 RASGRP2 G>A	11	64508512	64508512	G	A	RASGRP2	c.279C>T	NM_153819.1	NP_722541.1:p.(Asn93=)	NC_000011.9:g.64508512G>A	(Likely) benign	1 lab	0fa2cf468e
2:55209705 RTN4 C>T	2	55209705	55209705	C	T	RTN4	c.3306G>A	NM_020532.4	NP_065393.1:p.(Thr1102=)	NC_000002.11:g.55209705C>T	(Likely) benign	1 lab	0fa37a937e
18:43447589 EPG5 A>G	18	43447589	43447589	A	G	EPG5	c.6350T>C	NM_020964.3	NP_066015.2:p.(Ile2117Thr)	NC_000018.9:g.43447589A>G	(Likely) benign	1 lab	0fa4927f30
13:110864920 COL4A1 C>T	13	110864920	110864920	C	T	COL4A1	c.324+1G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110864920C>T	(Likely) pathogenic	1 lab	0fa531e8bf
11:47354882 MYBPC3 T>TG	11	47354882	47354883	T	TG	MYBPC3	c.3192dup	NM_000256.3	NP_000247.2:p.(Lys1065GlnfsTer12)	NC_000011.9:g.47354883dup	(Likely) pathogenic	1 lab	0fa5d32b1c
X:136112841 GPR101 G>A	X	136112841	136112841	G	A	GPR101	c.993C>T	NM_054021.1	NP_473362.1:p.(Ser331=)	NC_000023.10:g.136112841G>A	(Likely) benign	1 lab	0fa6906a00
16:223003 HBA2 AGAGGT>A	16	223003	223012	AGAGGT	A	HBA2	c.95+2_95+6del	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223008_223012del	(Likely) pathogenic	1 lab	0fa82bb140
12:31242861 DDX11 A>AGGC	12	31242861	31242864	A	AGGC	DDX11	c.923_925dup	NM_030653.3	NP_085911.2:p.(Arg308dup)	NC_000012.11:g.31242862_31242864dup	(Likely) benign	1 lab	0fae3e1df2
10:121429564 BAG3 G>A	10	121429564	121429564	G	A	BAG3	c.382G>A	NM_004281.3	NP_004272.2:p.(Ala128Thr)	NC_000010.10:g.121429564G>A	(Likely) benign	1 lab	0fae6c2cf5
17:29576138 NF1 G>C	17	29576138	29576138	G	C	NF1	c.4110+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576138G>C	(Likely) pathogenic	1 lab	0fb1636877
2:179432751 TTN C>G	2	179432751	179432751	C	G	TTN	c.78108G>C	NM_001267550.1	NP_001254479.1:p.(Leu26036Phe)	NC_000002.11:g.179432751C>G	VUS	1 lab	0fb2c55f38
1:111146298 KCNA2 G>A	1	111146298	111146298	G	A	KCNA2	c.1107C>T	NM_004974.3	NP_004965.1:p.(Val369=)	NC_000001.10:g.111146298G>A	(Likely) benign	1 lab	0fb3453e43
15:55759342 DNAAF4 C>T	15	55759342	55759342	C	T	DNAAF4	c.423G>A	NM_130810.3	NP_570722.2:p.(Arg141=)	NC_000015.9:g.55759342C>T	(Likely) benign	1 lab	0fb396e593
X:102884905 TCEAL1 G>T	X	102884905	102884905	G	T	TCEAL1	c.61G>T	NM_001006640.1	NP_001006641.1:p.(Glu21Ter)	NC_000023.10:g.102884905G>T	VUS	1 lab	0fb4780540
3:150645985 CLRN1 G>A	3	150645985	150645985	G	A	CLRN1	c.476C>T	NM_001195794.1	NP_001182723.1:p.(Ser159Phe)	NC_000003.11:g.150645985G>A	VUS	1 lab	0fb67e3426
1:196953122 CFHR5 T>C	1	196953122	196953122	T	C	CFHR5	c.285T>C	NM_030787.3	NP_110414.1:p.(Gly95=)	NC_000001.10:g.196953122T>C	(Likely) benign	1 lab	0fb7a3aa4d
18:2700726 SMCHD1 G>C	18	2700726	2700726	G	C	SMCHD1	c.1464-7G>C	NM_015295.2	NP_056110.2:p.?	NC_000018.9:g.2700726G>C	(Likely) benign	1 lab	0fb7d24079
19:7625651 PNPLA6 G>A	19	7625651	7625651	G	A	PNPLA6	c.3846+1G>A	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7625651G>A	(Likely) pathogenic	1 lab	0fb813bc27
2:111419345 BUB1 T>G	2	111419345	111419345	T	G	BUB1	c.1031A>C	NM_004336.4	NP_004327.1:p.(Tyr344Ser)	NC_000002.11:g.111419345T>G	(Likely) benign	1 lab	0fb8561d9a
X:135431456 ADGRG4 C>T	X	135431456	135431456	C	T	ADGRG4	c.5591C>T	NM_153834.3	NP_722576.3:p.(Pro1864Leu)	NC_000023.10:g.135431456C>T	VUS	1 lab	0fb871d137
1:5940294 NPHP4 G>T	1	5940294	5940294	G	T	NPHP4	c.2491C>A	NM_015102.4	NP_055917.1:p.(Pro831Thr)	NC_000001.10:g.5940294G>T	(Likely) benign	1 lab	0fbaaa7c72
4:8621227 CPZ G>A	4	8621227	8621227	G	A	CPZ	c.1431G>A	NM_001014448.2	NP_001014448.1:p.(Thr477=)	NC_000004.11:g.8621227G>A	(Likely) benign	1 lab	0fbb3ce502
13:32937599 BRCA2 C>T	13	32937599	32937599	C	T	BRCA2	c.8260C>T	NM_000059.3	NP_000050.2:p.(His2754Tyr)	NC_000013.10:g.32937599C>T	(Likely) benign	1 lab	0fbba8e5fd
1:152285571 FLG G>C	1	152285571	152285571	G	C	FLG	c.1791C>G	NM_002016.2	NP_002007.1:p.(Ser597Arg)	NC_000001.10:g.152285571G>C	VUS	1 lab	e27e6b0028
17:29676247 NF1 AC>A	17	29676247	29676248	AC	A	NF1	c.7300del	NM_001042492.3	NP_001035957.1:p.(Gln2434ArgfsTer6)	NC_000017.10:g.29676248del	(Likely) pathogenic	1 lab	0fbcd6aba6
19:42799051 CIC G>A	19	42799051	42799051	G	A	CIC	c.7262G>A	NM_001304815.1	NP_001291744.1:p.(Arg2421His)	NC_000019.9:g.42799051G>A	VUS	1 lab	0fbdc76611
5:52347371 ITGA2 G>A	5	52347371	52347371	G	A	ITGA2	c.761G>A	NM_002203.3	NP_002194.2:p.(Gly254Glu)	NC_000005.9:g.52347371G>A	(Likely) benign	1 lab	0fbea51b04
10:61828561 ANK3 G>A	10	61828561	61828561	G	A	ANK3	c.12078C>T	NM_020987.5	NP_066267.2:p.(Ser4026=)	NC_000010.10:g.61828561G>A	(Likely) benign	1 lab	0fbf4f762d
3:127325493 MCM2 G>C	3	127325493	127325493	G	C	MCM2	c.934G>C	NM_004526.3	NP_004517.2:p.(Val312Leu)	NC_000003.11:g.127325493G>C	VUS	1 lab	0fc81ba89a
10:34558720 PARD3 T>C	10	34558720	34558720	T	C	PARD3	c.3293A>G	NM_019619.3	NP_062565.2:p.(Tyr1098Cys)	NC_000010.10:g.34558720T>C	VUS	1 lab	0fc95349bf
16:84205949 DNAAF1 A>G	16	84205949	84205949	A	G	DNAAF1	c.1612A>G	NM_178452.5	NP_848547.4:p.(Arg538Gly)	NC_000016.9:g.84205949A>G	VUS	1 lab	0fcad45662
16:2153846 PKD1 C>G	16	2153846	2153846	C	G	PKD1	c.8212G>C	NM_001009944.2	NP_001009944.2:p.(Glu2738Gln)	NC_000016.9:g.2153846C>G	(Likely) benign	1 lab	0fcb0a06f5
2:8910960 KIDINS220 G>A	2	8910960	8910960	G	A	KIDINS220	c.2851C>T	NM_020738.3	NP_065789.1:p.(Arg951Ter)	NC_000002.11:g.8910960G>A	(Likely) pathogenic	1 lab	0fd129972a
12:7848324 GDF3 T>A	12	7848324	7848324	T	A	GDF3	c.1A>T	NM_020634.2	NP_065685.1:p.(Met1?)	NC_000012.11:g.7848324T>A	VUS	1 lab	0fd1352e73
1:7724797 CAMTA1 C>T	1	7724797	7724797	C	T	CAMTA1	c.2190C>T	NM_015215.3	NP_056030.1:p.(Ala730=)	NC_000001.10:g.7724797C>T	(Likely) benign	1 lab	0fd2296531
4:77818725 SOWAHB G>C	4	77818725	77818725	G	C	SOWAHB	c.278C>G	NM_001029870.2	NP_001025041.1:p.(Pro93Arg)	NC_000004.11:g.77818725G>C	(Likely) benign	1 lab	0fd23533ed
19:56028995 SSC5D G>C	19	56028995	56028995	G	C	SSC5D	c.3352G>C	NM_001144950.1	NP_001138422.1:p.(Val1118Leu)	NC_000019.9:g.56028995G>C	(Likely) benign	1 lab	0fd2636878
5:89924383 ADGRV1 G>A	5	89924383	89924383	G	A	ADGRV1	c.1243G>A	NM_032119.4	NP_115495.3:p.(Glu415Lys)	NC_000005.9:g.89924383G>A	VUS	1 lab	0fd2de7d97
3:142281821 ATR A>G	3	142281821	142281821	A	G	ATR	c.423T>C	NM_001184.3	NP_001175.2:p.(Ile141=)	NC_000003.11:g.142281821A>G	(Likely) benign	1 lab	0fd3211016
5:36108698 LMBRD2 C>T	5	36108698	36108698	C	T	LMBRD2	c.1835G>A	NM_001007527.2	NP_001007528.1:p.(Arg612Lys)	NC_000005.9:g.36108698C>T	VUS	1 lab	0fd5750c1a
11:72145453 CLPB C>T	11	72145453	72145453	C	T	CLPB	c.66G>A	NM_030813.6	NP_110440.1:p.(Arg22=)	NC_000011.9:g.72145453C>T	(Likely) benign	1 lab	0fd6472628
16:2155894 PKD1 G>A	16	2155894	2155894	G	A	PKD1	c.7835C>T	NM_001009944.2	NP_001009944.2:p.(Ser2612Leu)	NC_000016.9:g.2155894G>A	VUS	1 lab	0fd64c2f18
1:94474452 ABCA4 T>G	1	94474452	94474452	T	G	ABCA4	c.5715-25A>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94474452T>G	(Likely) benign	1 lab	0fd83dcbd3
3:47452331 PTPN23 C>T	3	47452331	47452331	C	T	PTPN23	c.3043C>T	NM_015466.3	NP_056281.1:p.(His1015Tyr)	NC_000003.11:g.47452331C>T	(Likely) benign	1 lab	0fd8a59e72
9:123313137 CDK5RAP2 C>T	9	123313137	123313137	C	T	CDK5RAP2	c.239G>A	NM_018249.5	NP_060719.4:p.(Arg80His)	NC_000009.11:g.123313137C>T	VUS	1 lab	0fda429e0d
15:52476873 GNB5 T>C	15	52476873	52476873	T	C	GNB5	c.1A>G	NM_016194.3	NP_057278.2:p.(Met1?)	NC_000015.9:g.52476873T>C	(Likely) pathogenic	1 lab	0fdb20ab0f
X:152772538 BGN C>T	X	152772538	152772538	C	T	BGN	c.804C>T	NM_001711.5	NP_001702.1:p.(Ile268=)	NC_000023.10:g.152772538C>T	(Likely) benign	1 lab	0fdc3701b2
9:379774 DOCK8 A>C	9	379774	379774	A	C	DOCK8	c.2444A>C	NM_203447.3	NP_982272.2:p.(Asn815Thr)	NC_000009.11:g.379774A>C	VUS	1 lab	1e3aa73f3e
X:68058691 EFNB1 C>A	X	68058691	68058691	C	A	EFNB1	c.360C>A	NM_004429.4	NP_004420.1:p.(Asn120Lys)	NC_000023.10:g.68058691C>A	(Likely) pathogenic	1 lab	0fe1e1b25e
5:178413248 GRM6 G>A	5	178413248	178413248	G	A	GRM6	c.2007C>T	NM_000843.4	NP_000834.2:p.(Leu669=)	NC_000005.9:g.178413248G>A	(Likely) benign	1 lab	0fe3776c19
8:10466883 RP1L1 C>T	8	10466883	10466883	C	T	RP1L1	c.4725G>A	NM_178857.5	NP_849188.4:p.(Glu1575=)	NC_000008.10:g.10466883C>T	(Likely) benign	1 lab	0fe3a74106
5:139422564 NRG2 C>A	5	139422564	139422564	C	A	NRG2	c.91G>T	NM_013982.2	NP_053585.1:p.(Glu31Ter)	NC_000005.9:g.139422564C>A	VUS	1 lab	0fe49b02b9
1:16462264 EPHA2 C>T	1	16462264	16462264	C	T	EPHA2	c.1314G>A	NM_004431.4	NP_004422.2:p.(Glu438=)	NC_000001.10:g.16462264C>T	(Likely) benign	1 lab	0fe577ab76
14:65233524 SPTB G>GGAA	14	65233524	65233529	G	GGAA	SPTB	c.6270-8_6270-6dup	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65233527_65233529dup	(Likely) benign	1 lab	0fe5819472
7:128477557 FLNC C>T	7	128477557	128477557	C	T	FLNC	c.805C>T	NM_001458.4	NP_001449.3:p.(Arg269Ter)	NC_000007.13:g.128477557C>T	(Likely) pathogenic	1 lab	0fe7e7cdb6
17:73518071 TSEN54 C>G	17	73518071	73518071	C	G	TSEN54	c.909C>G	NM_207346.2	NP_997229.2:p.(Phe303Leu)	NC_000017.10:g.73518071C>G	VUS	1 lab	0fe937e539
7:24747874 GSDME C>T	7	24747874	24747874	C	T	GSDME	c.863-1G>A	NM_004403.2	NP_004394.1:p.?	NC_000007.13:g.24747874C>T	(Likely) pathogenic	1 lab	0fea43b03a
8:144997712 PLEC C>A	8	144997712	144997712	C	A	PLEC	c.6796G>T	NM_201380.3	NP_958782.1:p.(Ala2266Ser)	NC_000008.10:g.144997712C>A	VUS	1 lab	0feb1e5d75
8:42711483 RNF170 C>T	8	42711483	42711483	C	T	RNF170	c.596G>A	NM_001160223.1	NP_001153695.1:p.(Arg199His)	NC_000008.10:g.42711483C>T	VUS	1 lab	0ff024cd86
20:57019199 VAPB A>C	20	57019199	57019199	A	C	VAPB	c.640A>C	NM_004738.4	NP_004729.1:p.(Thr214Pro)	NC_000020.10:g.57019199A>C	VUS	1 lab	0ff0ad9d3e
1:161641417 FCGR2B T>C	1	161641417	161641417	T	C	FCGR2B	c.369T>C	NM_004001.4	NP_003992.3:p.(Pro123=)	NC_000001.10:g.161641417T>C	(Likely) benign	1 lab	0ff23bece6
6:50791426 TFAP2B C>A	6	50791426	50791426	C	A	TFAP2B	c.388C>A	NM_003221.4	NP_003212.2:p.(Pro130Thr)	NC_000006.11:g.50791426C>A	VUS	1 lab	e27ee35732
X:21674305 KLHL34 T>C	X	21674305	21674305	T	C	KLHL34	c.1602A>G	NM_153270.2	NP_695002.1:p.(Arg534=)	NC_000023.10:g.21674305T>C	VUS	1 lab	0ff936fc59
21:34948696 SON GA>G	21	34948696	34948697	GA	G	SON	c.7248del	NM_138927.4	NP_620305.3:p.(Arg2416SerfsTer8)	NC_000021.8:g.34948697del	(Likely) benign	1 lab	0ff967d567
20:58349409 PHACTR3 C>T	20	58349409	58349409	C	T	PHACTR3	c.1038C>T	NM_080672.5	NP_542403.1:p.(Asp346=)	NC_000020.10:g.58349409C>T	(Likely) benign	1 lab	0ffa1d4f8b
1:160000702 PIGM G>A	1	160000702	160000702	G	A	PIGM	c.828C>T	NM_145167.2	NP_660150.1:p.(Tyr276=)	NC_000001.10:g.160000702G>A	(Likely) benign	1 lab	0ffb9b7cf1
10:64913780 NRBF2 A>G	10	64913780	64913780	A	G	NRBF2	c.636A>G	NM_001282405.1	NP_001269334.1:p.(Val212=)	NC_000010.10:g.64913780A>G	(Likely) benign	1 lab	0ffbb6dfeb
15:40917285 KNL1 T>G	15	40917285	40917285	T	G	KNL1	c.4901T>G	NM_170589.4	NP_733468.3:p.(Ile1634Ser)	NC_000015.9:g.40917285T>G	(Likely) benign	1 lab	0ffbefccf5
16:3779879 CREBBP C>T	16	3779879	3779879	C	T	CREBBP	c.5173-4G>A	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3779879C>T	(Likely) benign	1 lab	0ffcfea2fe
20:62562870 DNAJC5 C>T	20	62562870	62562870	C	T	DNAJC5	c.546C>T	NM_025219.2	NP_079495.1:p.(Thr182=)	NC_000020.10:g.62562870C>T	(Likely) benign	1 lab	0ffe7f7e19
21:33765100 URB1 C>T	21	33765100	33765100	C	T	URB1	c.120G>A	NM_014825.3	NP_055640.2:p.(Lys40=)	NC_000021.8:g.33765100C>T	(Likely) benign	1 lab	0ffe957989
1:197069857 ASPM G>A	1	197069857	197069857	G	A	ASPM	c.8524C>T	NM_018136.4	NP_060606.3:p.(Arg2842Trp)	NC_000001.10:g.197069857G>A	VUS	1 lab	0fffa3525c
6:162206886 PRKN A>C	6	162206886	162206886	A	C	PRKN	c.789T>G	NM_004562.2	NP_004553.2:p.(Cys263Trp)	NC_000006.11:g.162206886A>C	VUS	1 lab	1001acf718
3:132434022 NPHP3 A>T	3	132434022	132434022	A	T	NPHP3	c.864T>A	NM_153240.4	NP_694972.3:p.(Thr288=)	NC_000003.11:g.132434022A>T	(Likely) benign	1 lab	1001cce4d8
19:44223452 IRGC C>T	19	44223452	44223452	C	T	IRGC	c.742C>T	NM_019612.4	NP_062558.1:p.(Leu248Phe)	NC_000019.9:g.44223452C>T	VUS	1 lab	1006d81e3b
X:19560216 SH3KBP1 G>T	X	19560216	19560216	G	T	SH3KBP1	c.1794C>A	NM_001353891.1	NP_001340820.1:p.(Pro598=)	NC_000023.10:g.19560216G>T	(Likely) benign	1 lab	1007bfbc56
X:138908933 ATP11C T>C	X	138908933	138908933	T	C	ATP11C	c.86A>G	NM_173694.4	NP_775965.2:p.(Asn29Ser)	NC_000023.10:g.138908933T>C	(Likely) benign	1 lab	1009be3955
10:73548795 CDH23 C>T	10	73548795	73548795	C	T	CDH23	c.5919C>T	NM_022124.5	NP_071407.4:p.(Pro1973=)	NC_000010.10:g.73548795C>T	(Likely) benign	1 lab	1009c4b46c
19:11685998 ACP5 G>A	19	11685998	11685998	G	A	ACP5	c.805C>T	NM_001111035.2	NP_001104505.1:p.(Arg269Trp)	NC_000019.9:g.11685998G>A	VUS	1 lab	100a60203a
7:21747447 DNAH11 A>G	7	21747447	21747447	A	G	DNAH11				NC_000007.13:g.21747447A>G	VUS	1 lab	100ca8d0d7
11:1016446 MUC6 T>A	11	1016446	1016446	T	A	MUC6	c.6355A>T	NM_005961.2	NP_005952.2:p.(Thr2119Ser)	NC_000011.9:g.1016446T>A	(Likely) benign	1 lab	100cff4108
20:60884772 LAMA5 C>T	20	60884772	60884772	C	T	LAMA5	c.10948G>A	NM_005560.4	NP_005551.3:p.(Glu3650Lys)	NC_000020.10:g.60884772C>T	VUS	1 lab	100d67e151
7:70231220 AUTS2 AGCACCAGCACACCCACCAGCACAC>A	7	70231220	70231257	AGCACCAGCACACCCACCAGCACAC	A	AUTS2	c.1603_1626del	NM_015570.4	NP_056385.1:p.(His535_Thr542del)	NC_000007.13:g.70231234_70231257del	VUS	1 lab	100fc92dd7
22:42575631 TCF20 CG>C	22	42575631	42575634	CG	C	TCF20	c.5732del	NM_001378418.1	NP_001365347.1:p.(Pro1911ArgfsTer17)	NC_000022.10:g.42575634del	VUS	1 lab	1010b0158e
19:44056400 XRCC1 G>A	19	44056400	44056400	G	A	XRCC1	c.851C>T	NM_006297.2	NP_006288.2:p.(Thr284Ile)	NC_000019.9:g.44056400G>A	(Likely) benign	1 lab	10110b49a5
11:126391224 KIRREL3 C>T	11	126391224	126391224	C	T	KIRREL3	c.419G>A	NM_032531.4	NP_115920.1:p.(Arg140His)	NC_000011.9:g.126391224C>T	VUS	1 lab	e28171526a
15:28460900 HERC2 G>A	15	28460900	28460900	G	A	HERC2	c.6077C>T	NM_004667.5	NP_004658.3:p.(Thr2026Met)	NC_000015.9:g.28460900G>A	VUS	1 lab	1012e447cf
10:69959255 MYPN G>A	10	69959255	69959255	G	A	MYPN	c.3416G>A	NM_032578.3	NP_115967.2:p.(Arg1139His)	NC_000010.10:g.69959255G>A	VUS	1 lab	10133e4302
16:626161 PIGQ G>T	16	626161	626161	G	T	PIGQ	c.849G>T	NM_004204.3	NP_004195.2:p.(Leu283=)	NC_000016.9:g.626161G>T	(Likely) benign	1 lab	1013b165ae
1:220363038 RAB3GAP2 C>T	1	220363038	220363038	C	T	RAB3GAP2	c.1779+7G>A	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220363038C>T	(Likely) benign	1 lab	10141da1ea
12:111885856 SH2B3 G>C	12	111885856	111885856	G	C	SH2B3	c.1478G>C	NM_005475.2	NP_005466.1:p.(Gly493Ala)	NC_000012.11:g.111885856G>C	(Likely) benign	1 lab	1014a5df5b
3:57489763 MISSING G>C	3	57489763	57489763	G	C	MISSING				NC_000003.11:g.57489763G>C	(Likely) benign	1 lab	110cb2884b
17:30325986 SUZ12 A>AG	17	30325986	30325990	A	AG	SUZ12	c.2188dup	NM_015355.3	NP_056170.2:p.(Val730GlyfsTer27)	NC_000017.10:g.30325990dup	VUS	1 lab	101541b572
4:107246152 AIMP1 C>T	4	107246152	107246152	C	T	AIMP1	c.58C>T	NM_001142416.1	NP_001135888.1:p.(Arg20Cys)	NC_000004.11:g.107246152C>T	(Likely) benign	1 lab	1017dfd5d9
X:30236729 MAGEB2 C>G	X	30236729	30236729	C	G	MAGEB2	c.32C>G	NM_002364.4	NP_002355.2:p.(Ala11Gly)	NC_000023.10:g.30236729C>G	(Likely) benign	1 lab	101922e32f
2:176866890 LNPK G>T	2	176866890	176866890	G	T	LNPK	c.129C>A	NM_001305008.1	NP_001291937.1:p.(Cys43Ter)	NC_000002.11:g.176866890G>T	(Likely) pathogenic	1 lab	101a6a2f34
1:213037081 FLVCR1 TG>T	1	213037081	213037083	TG	T	FLVCR1	c.755del	NM_014053.4	NP_054772.1:p.(Gly252AlafsTer8)	NC_000001.10:g.213037083del	(Likely) pathogenic	1 lab	101a86ce4a
17:29553702 NF1 G>T	17	29553702	29553702	G	T	NF1	c.2251G>T	NM_000267.3	NP_000258.1:p.(Gly751Ter)	NC_000017.10:g.29553702G>T	(Likely) pathogenic	1 lab	101c4bf215
14:54417526 BMP4 C>T	14	54417526	54417526	C	T	BMP4	c.451G>A	NM_001202.6	NP_001193.2:p.(Glu151Lys)	NC_000014.8:g.54417526C>T	VUS	1 lab	e283687f7c
5:177036579 B4GALT7 T>C	5	177036579	177036579	T	C	B4GALT7	c.867T>C	NM_007255.2	NP_009186.1:p.(Thr289=)	NC_000005.9:g.177036579T>C	(Likely) benign	1 lab	101cb218a7
1:161180512 NDUFS2 A>G	1	161180512	161180512	A	G	NDUFS2	c.986+12A>G	NM_004550.5	NP_004541.1:p.?	NC_000001.10:g.161180512A>G	(Likely) benign	1 lab	e28376aa8f
5:169101456 DOCK2 T>C	5	169101456	169101456	T	C	DOCK2	c.470+7T>C	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169101456T>C	(Likely) benign	1 lab	101d392fd6
X:3002625 ARSF G>C	X	3002625	3002625	G	C	ARSF	c.748G>C	NM_001201539.1	NP_001188468.1:p.(Gly250Arg)	NC_000023.10:g.3002625G>C	(Likely) benign	1 lab	101d795cd4
2:189861146 COL3A1 G>A	2	189861146	189861146	G	A	COL3A1	c.1685G>A	NM_000090.3	NP_000081.1:p.(Arg562Gln)	NC_000002.11:g.189861146G>A	VUS	1 lab	101eafd467
1:3350252 PRDM16 G>A	1	3350252	3350252	G	A	PRDM16	c.3708G>A	NM_022114.3	NP_071397.3:p.(Met1236Ile)	NC_000001.10:g.3350252G>A	VUS	1 lab	10204ed11a
X:47917936 ZNF630 C>A	X	47917936	47917936	C	A	ZNF630	c.1895G>T	NM_001282201.1	NP_001269130.1:p.(Cys632Phe)	NC_000023.10:g.47917936C>A	VUS	1 lab	1021be60d4
6:112443306 LAMA4 G>T	6	112443306	112443306	G	T	LAMA4	c.4386C>A	NM_001105206.2	NP_001098676.2:p.(Ser1462Arg)	NC_000006.11:g.112443306G>T	VUS	1 lab	10232d3540
11:108128179 ATM AT>A	11	108128179	108128182	AT	A	ATM	c.2251-26del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128182del	(Likely) benign	1 lab	1023fcd2ca
2:179469503 TTN G>A	2	179469503	179469503	G	A	TTN	c.54313C>T	NM_001267550.1	NP_001254479.1:p.(Arg18105Cys)	NC_000002.11:g.179469503G>A	VUS	1 lab	1025843047
1:100340252 AGL G>A	1	100340252	100340252	G	A	AGL	c.968G>A	NM_000028.2	NP_000019.2:p.(Arg323Gln)	NC_000001.10:g.100340252G>A	(Likely) benign	1 lab	1025e0a792
1:43905431 SZT2 A>G	1	43905431	43905431	A	G	SZT2	c.7033A>G	NM_001365999.1	NP_001352928.1:p.(Ser2345Gly)	NC_000001.10:g.43905431A>G	(Likely) benign	1 lab	1029cc10c8
12:7362628 PEX5 G>T	12	7362628	7362628	G	T	PEX5	c.1729G>T	NM_001131025.1	NP_001124497.1:p.(Glu577Ter)	NC_000012.11:g.7362628G>T	VUS	1 lab	102aaaab1f
18:29171892 TTR C>T	18	29171892	29171892	C	T	TTR	c.27C>T	NM_000371.3	NP_000362.1:p.(Leu9=)	NC_000018.9:g.29171892C>T	(Likely) benign	1 lab	102e09a9ab
20:3888679 PANK2 TAA>T	20	3888679	3888683	TAA	T	PANK2	c.408_409del	NM_001386393.1	NP_001373322.1:p.(Ser137HisfsTer44)	NC_000020.10:g.3888682_3888683del	(Likely) pathogenic	1 lab	102e546af8
4:184587467 TRAPPC11 A>G	4	184587467	184587467	A	G	TRAPPC11	c.262A>G	NM_021942.5	NP_068761.4:p.(Lys88Glu)	NC_000004.11:g.184587467A>G	VUS	1 lab	102ec910b0
2:179485194 TTN C>T	2	179485194	179485194	C	T	TTN	c.46054G>A	NM_001267550.1	NP_001254479.1:p.(Asp15352Asn)	NC_000002.11:g.179485194C>T	VUS	1 lab	102f4f124e
10:70863674 SRGN A>C	10	70863674	70863674	A	C	SRGN	c.275A>C	NM_001321053.1	NP_001307982.1:p.(Asp92Ala)	NC_000010.10:g.70863674A>C	VUS	1 lab	102fa65dc7
2:96968944 SNRNP200 T>G	2	96968944	96968944	T	G	SNRNP200	c.334A>C	NM_014014.4	NP_054733.2:p.(Thr112Pro)	NC_000002.11:g.96968944T>G	VUS	1 lab	1030378a40
15:62170843 VPS13C C>T	15	62170843	62170843	C	T	VPS13C	c.10105G>A	NM_001018088.2	NP_001018098.1:p.(Gly3369Ser)	NC_000015.9:g.62170843C>T	VUS	1 lab	10307ab10f
X:68382036 PJA1 T>C	X	68382036	68382036	T	C	PJA1	c.1046A>G	NM_145119.3	NP_660095.1:p.(Asp349Gly)	NC_000023.10:g.68382036T>C	(Likely) benign	1 lab	1032d22981
6:33156265 COL11A2 A>C	6	33156265	33156265	A	C	COL11A2	c.480T>G	NM_080680.2	NP_542411.2:p.(Ser160=)	NC_000006.11:g.33156265A>C	(Likely) benign	1 lab	10338dcd0f
3:167413408 PDCD10 CTG>C	3	167413408	167413411	CTG	C	PDCD10	c.369_370del	NM_007217.4	NP_009148.2:p.(Asp123GlufsTer13)	NC_000003.11:g.167413410_167413411del	(Likely) pathogenic	1 lab	103549585e
7:94041965 COL1A2 A>G	7	94041965	94041965	A	G	COL1A2	c.1474A>G	NM_000089.3	NP_000080.2:p.(Ile492Val)	NC_000007.13:g.94041965A>G	VUS	1 lab	103657e209
4:187629261 FAT1 C>T	4	187629261	187629261	C	T	FAT1	c.1721G>A	NM_005245.3	NP_005236.2:p.(Cys574Tyr)	NC_000004.11:g.187629261C>T	VUS	1 lab	1037ca6954
1:47882122 FOXE3 G>A	1	47882122	47882122	G	A	FOXE3	c.135G>A	NM_012186.2	NP_036318.1:p.(Ala45=)	NC_000001.10:g.47882122G>A	(Likely) benign	1 lab	10381a8f36
X:123026624 XIAP G>A	X	123026624	123026624	G	A	XIAP	c.1099+1G>A	NM_001167.3	NP_001158.2:p.?	NC_000023.10:g.123026624G>A	(Likely) pathogenic	1 lab	1038de74a2
5:82406931 XRCC4 T>C	5	82406931	82406931	T	C	XRCC4	c.224T>C	NM_001318012.1	NP_001304941.1:p.(Leu75Ser)	NC_000005.9:g.82406931T>C	VUS	1 lab	10392ffebd
7:781074 DNAAF5 T>C	7	781074	781074	T	C	DNAAF5	c.996T>C	NM_017802.3	NP_060272.3:p.(Pro332=)	NC_000007.13:g.781074T>C	(Likely) benign	1 lab	103f39a8fa
10:27400990 YME1L1 G>A	10	27400990	27400990	G	A	YME1L1	c.2238C>T	NM_139312.2	NP_647473.1:p.(Leu746=)	NC_000010.10:g.27400990G>A	(Likely) benign	1 lab	1040bd652d
X:100387216 CENPI G>T	X	100387216	100387216	G	T	CENPI	c.1325G>T	NM_006733.3	NP_006724.2:p.(Ser442Ile)	NC_000023.10:g.100387216G>T	VUS	1 lab	10410bb66d
2:179644882 TTN G>A	2	179644882	179644882	G	A	TTN	c.3574C>T	NM_001267550.2	NP_001254479.2:p.(Gln1192Ter)	NC_000002.11:g.179644882G>A	(Likely) pathogenic	1 lab	e284e22625
6:139266669 REPS1 G>A	6	139266669	139266669	G	A	REPS1	c.443C>T	NM_001286611.1	NP_001273540.1:p.(Thr148Met)	NC_000006.11:g.139266669G>A	(Likely) benign	1 lab	1043a3e975
15:38643264 SPRED1 T>A	15	38643264	38643264	T	A	SPRED1	c.734T>A	NM_152594.2	NP_689807.1:p.(Ile245Asn)	NC_000015.9:g.38643264T>A	VUS	1 lab	1044025172
7:53104173 POM121L12 C>T	7	53104173	53104173	C	T	POM121L12	c.809C>T	NM_182595.3	NP_872401.3:p.(Ala270Val)	NC_000007.13:g.53104173C>T	(Likely) benign	1 lab	10445852e3
17:38975162 KRT10 T>G	17	38975162	38975162	T	G	KRT10	c.1625A>C	NM_000421.3	NP_000412.3:p.(Tyr542Ser)	NC_000017.10:g.38975162T>G	(Likely) benign	1 lab	10478c89d3
10:55892726 PCDH15 T>C	10	55892726	55892726	T	C	PCDH15				NC_000010.10:g.55892726T>C	VUS	1 lab	1047952fd9
7:103197578 RELN C>T	7	103197578	103197578	C	T	RELN	c.5643G>A	NM_173054.2	NP_774959.1:p.(Leu1881=)	NC_000007.13:g.103197578C>T	(Likely) benign	1 lab	1047d83e0c
7:21913098 DNAH11 C>T	7	21913098	21913098	C	T	DNAH11				NC_000007.13:g.21913098C>T	(Likely) benign	1 lab	10489ab5a2
X:151093087 MAGEA4 CTG>C	X	151093087	151093089	CTG	C	MAGEA4	c.952_953del	NM_001011548.1	NP_001011548.1:p.(Ter318SerextTer18)	NC_000023.10:g.151093088_151093089del	VUS	1 lab	104a620249
4:5800513 EVC C>T	4	5800513	5800513	C	T	EVC	c.2298C>T	NM_153717.2	NP_714928.1:p.(Asp766=)	NC_000004.11:g.5800513C>T	(Likely) benign	1 lab	104a8ada27
6:33409460 SYNGAP1 C>T	6	33409460	33409460	C	T	SYNGAP1	c.2218C>T	NM_006772.2	NP_006763.2:p.(Arg740Trp)	NC_000006.11:g.33409460C>T	VUS	1 lab	104aa174a9
9:2648773 VLDLR A>G	9	2648773	2648773	A	G	VLDLR	c.2067A>G	NM_003383.4	NP_003374.3:p.(Gln689=)	NC_000009.11:g.2648773A>G	(Likely) benign	1 lab	104e7e4e9f
X:153906523 GAB3 C>T	X	153906523	153906523	C	T	GAB3	c.1696G>A	NM_001081573.2	NP_001075042.1:p.(Glu566Lys)	NC_000023.10:g.153906523C>T	(Likely) benign	1 lab	104e948bd7
11:69625318 FGF3 C>G	11	69625318	69625318	C	G	FGF3				NC_000011.9:g.69625318C>G	VUS	1 lab	21b9d48492
9:100245569 TDRD7 G>A	9	100245569	100245569	G	A	TDRD7	c.2851G>A	NM_014290.2	NP_055105.2:p.(Val951Met)	NC_000009.11:g.100245569G>A	VUS	1 lab	104f628784
X:152835147 ATP2B3 C>T	X	152835147	152835147	C	T	ATP2B3	c.3429C>T	NM_021949.3	NP_068768.2:p.(Asp1143=)	NC_000023.10:g.152835147C>T	(Likely) benign	1 lab	104f7ed306
X:48887805 TFE3 CCCT>C	X	48887805	48887819	CCCT	C	TFE3	c.1589_1591del	NM_006521.6	NP_006512.2:p.(Glu530del)	NC_000023.10:g.48887817_48887819del	(Likely) benign	1 lab	e2864b4092
X:129267320 AIFM1 A>G	X	129267320	129267320	A	G	AIFM1	c.1416T>C	NM_004208.3	NP_004199.1:p.(Ala472=)	NC_000023.10:g.129267320A>G	(Likely) benign	1 lab	1053dcef61
1:218578631 TGFB2 AC>A	1	218578631	218578634	AC	A	TGFB2	c.470del	NM_003238.6	NP_003229.1:p.(Pro157GlnfsTer21)	NC_000001.10:g.218578634del	(Likely) pathogenic	1 lab	e2866cf1ec
9:139265830 CARD9 G>A	9	139265830	139265830	G	A	CARD9	c.268C>T	NM_052813.4	NP_434700.2:p.(Leu90=)	NC_000009.11:g.139265830G>A	(Likely) benign	1 lab	10548c5c36
2:198571323 MARS2 G>A	2	198571323	198571323	G	A	MARS2	c.1194G>A	NM_138395.3	NP_612404.1:p.(Glu398=)	NC_000002.11:g.198571323G>A	(Likely) benign	1 lab	10558e434b
2:209007566 CRYGB G>A	2	209007566	209007566	G	A	CRYGB	c.324C>T	NM_005210.3	NP_005201.2:p.(Asp108=)	NC_000002.11:g.209007566G>A	(Likely) benign	1 lab	1055ead65b
5:55236992 IL6ST C>A	5	55236992	55236992	C	A	IL6ST	c.2675G>T	NM_002184.4	NP_002175.2:p.(Gly892Val)	NC_000005.9:g.55236992C>A	VUS	1 lab	1057f6c31d
15:89821940 FANCI A>C	15	89821940	89821940	A	C	FANCI	c.1316A>C	NM_001113378.1	NP_001106849.1:p.(Glu439Ala)	NC_000015.9:g.89821940A>C	VUS	1 lab	105b42e387
9:34892685 SPATA31F3 T>C	9	34892685	34892685	T	C	SPATA31F3	c.716A>G	NM_001309426.1	NP_001296355.1:p.(Asn239Ser)	NC_000009.11:g.34892685T>C	VUS	1 lab	105b7e86fc
17:1630619 WDR81 C>A	17	1630619	1630619	C	A	WDR81	c.2366C>A	NM_001163809.1	NP_001157281.1:p.(Thr789Lys)	NC_000017.10:g.1630619C>A	(Likely) benign	1 lab	105c5dd393
11:66293660 BBS1 C>T	11	66293660	66293660	C	T	BBS1	c.1177C>T	NM_024649.4	NP_078925.3:p.(Arg393Ter)	NC_000011.9:g.66293660C>T	(Likely) pathogenic	1 lab	105d9fbe65
11:6661420 DCHS1 C>G	11	6661420	6661420	C	G	DCHS1				NC_000011.9:g.6661420C>G	VUS	1 lab	105dbdb27a
15:68504053 CLN6 C>T	15	68504053	68504053	C	T	CLN6	c.446G>A	NM_017882.2	NP_060352.1:p.(Arg149His)	NC_000015.9:g.68504053C>T	VUS	1 lab	1061010d96
19:36211138 KMT2B C>T	19	36211138	36211138	C	T	KMT2B	c.889C>T	NM_014727.2	NP_055542.1:p.(Arg297Ter)	NC_000019.9:g.36211138C>T	(Likely) pathogenic	1 lab	10612a1d7b
2:141680691 LRP1B G>A	2	141680691	141680691	G	A	LRP1B	c.3162C>T	NM_018557.2	NP_061027.2:p.(Asn1054=)	NC_000002.11:g.141680691G>A	(Likely) benign	1 lab	1061319106
11:1265858 MUC5B C>T	11	1265858	1265858	C	T	MUC5B	c.7748C>T	NM_002458.2	NP_002449.2:p.(Thr2583Met)	NC_000011.9:g.1265858C>T	(Likely) benign	1 lab	1061361b02
7:117199672 CFTR G>A	7	117199672	117199672	G	A	CFTR	c.1547G>A	NM_000492.4	NP_000483.3:p.(Arg516Lys)	NC_000007.13:g.117199672G>A	VUS	1 lab	e28918a75a
19:36303080 PRODH2 G>A	19	36303080	36303080	G	A	PRODH2	c.694C>T	NM_021232.1	NP_067055.1:p.(Leu232Phe)	NC_000019.9:g.36303080G>A	VUS	1 lab	106394303b
X:117761473 DOCK11 A>G	X	117761473	117761473	A	G	DOCK11	c.3595A>G	NM_144658.3	NP_653259.3:p.(Arg1199Gly)	NC_000023.10:g.117761473A>G	(Likely) benign	1 lab	1063a57920
2:48032874 MSH6 ACTAT>A	2	48032874	48032884	ACTAT	A	MSH6	c.3646+35_3646+38del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032881_48032884del	(Likely) benign	1 lab	1065c3416d
7:33376242 BBS9 A>C	7	33376242	33376242	A	C	BBS9	c.925+8A>C	NM_001348038.2	NP_001334967.1:p.?	NC_000007.13:g.33376242A>C	(Likely) benign	1 lab	106600ab37
17:7578534 TP53 C>T	17	7578534	7578534	C	T	TP53	c.396G>A	NM_000546.5	NP_000537.3:p.(Lys132=)	NC_000017.10:g.7578534C>T	(Likely) benign	1 lab	107904e1ff
1:1407281 ATAD3B G>A	1	1407281	1407281	G	A	ATAD3B	c.17G>A	NM_031921.5	NP_114127.3:p.(Gly6Asp)	NC_000001.10:g.1407281G>A	VUS	1 lab	106841f609
16:72991663 ZFHX3 C>T	16	72991663	72991663	C	T	ZFHX3	c.2382G>A	NM_006885.3	NP_008816.3:p.(Ser794=)	NC_000016.9:g.72991663C>T	(Likely) benign	1 lab	107081a709
12:122962415 ZCCHC8 A>C	12	122962415	122962415	A	C	ZCCHC8	c.1021T>G	NM_001350936.1	NP_001337865.1:p.(Ser341Ala)	NC_000012.11:g.122962415A>C	(Likely) benign	1 lab	10685ad391
13:114549493 GAS6 G>A	13	114549493	114549493	G	A	GAS6	c.343+7C>T	NM_000820.3	NP_000811.1:p.?	NC_000013.10:g.114549493G>A	(Likely) benign	1 lab	1069f86ac6
1:34238292 CSMD2 G>A	1	34238292	34238292	G	A	CSMD2	c.1724C>T	NM_001281956.1	NP_001268885.1:p.(Ser575Phe)	NC_000001.10:g.34238292G>A	VUS	1 lab	106b0e7df0
16:88800372 PIEZO1 G>GTCCTCC	16	88800372	88800397	G	GTCCTCC	PIEZO1	c.2265_2270dup	NM_001142864.4	NP_001136336.2:p.(Glu755_Glu756dup)	NC_000016.9:g.88800392_88800397dup	VUS	1 lab	106b21f537
7:128470922 FLNC C>T	7	128470922	128470922	C	T	FLNC	c.231C>T	NM_001458.4	NP_001449.3:p.(Leu77=)	NC_000007.13:g.128470922C>T	(Likely) benign	1 lab	106deb22be
4:996184 IDUA C>A	4	996184	996184	C	A	IDUA	c.1100C>A	NM_000203.5	NP_000194.2:p.(Ala367Glu)	NC_000004.11:g.996184C>A	VUS	1 lab	106e6395d0
2:71906246 DYSF T>C	2	71906246	71906246	T	C	DYSF	c.5827T>C	NM_003494.4	NP_003485.1:p.(Ser1943Pro)	NC_000002.11:g.71906246T>C	VUS	1 lab	e2902150b2
11:62293817 AHNAK T>C	11	62293817	62293817	T	C	AHNAK	c.8072A>G	NM_001620.3	NP_001611.1:p.(Lys2691Arg)	NC_000011.9:g.62293817T>C	VUS	1 lab	e298ecd4a7
2:11809867 NTSR2 C>T	2	11809867	11809867	C	T	NTSR2	c.389G>A	NM_012344.4	NP_036476.2:p.(Ser130Asn)	NC_000002.11:g.11809867C>T	VUS	1 lab	10703e05c4
X:84520203 ZNF711 G>C	X	84520203	84520203	G	C	ZNF711	c.858G>C	NM_001330574.1	NP_001317503.1:p.(Gln286His)	NC_000023.10:g.84520203G>C	VUS	1 lab	1070e80b52
17:29560167 NF1 TG>T	17	29560167	29560170	TG	T	NF1	c.3647del	NM_001042492.3	NP_001035957.1:p.(Gly1216ValfsTer8)	NC_000017.10:g.29560170del	(Likely) pathogenic	1 lab	10713b5b4e
X:129289229 AIFM1 T>C	X	129289229	129289229	T	C	AIFM1	c.139A>G	NM_145812.2	NP_665811.1:p.(Arg47Gly)	NC_000023.10:g.129289229T>C	(Likely) benign	1 lab	1071e95fb8
X:70349640 MED12 A>G	X	70349640	70349640	A	G	MED12	c.3802A>G	NM_005120.2	NP_005111.2:p.(Ile1268Val)	NC_000023.10:g.70349640A>G	VUS	1 lab	1072f735a3
3:189689785 P3H2 T>C	3	189689785	189689785	T	C	P3H2	c.1711A>G	NM_018192.4	NP_060662.2:p.(Arg571Gly)	NC_000003.11:g.189689785T>C	VUS	1 lab	10730cab7a
20:23029901 THBD C>T	20	23029901	23029901	C	T	THBD	c.241G>A	NM_000361.2	NP_000352.1:p.(Val81Ile)	NC_000020.10:g.23029901C>T	(Likely) benign	1 lab	1073a1c6a6
3:52325039 GLYCTK G>A	3	52325039	52325039	G	A	GLYCTK	c.441G>A	NM_145262.4	NP_660305.2:p.(Pro147=)	NC_000003.11:g.52325039G>A	(Likely) benign	1 lab	e29ae523b9
16:17451891 XYLT1 G>A	16	17451891	17451891	G	A	XYLT1	c.380C>T	NM_022166.3	NP_071449.1:p.(Pro127Leu)	NC_000016.9:g.17451891G>A	VUS	1 lab	10762610f1
16:2154495 PKD1 G>A	16	2154495	2154495	G	A	PKD1	c.8161+4C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2154495G>A	VUS	1 lab	10763ab2cb
16:11001032 CIITA C>T	16	11001032	11001032	C	T	CIITA	c.1686C>T	NM_001286402.1	NP_001273331.1:p.(Asp562=)	NC_000016.9:g.11001032C>T	(Likely) benign	1 lab	1076c2e288
20:61050572 GATA5 G>A	20	61050572	61050572	G	A	GATA5	c.6C>T	NM_080473.4	NP_536721.1:p.(Tyr2=)	NC_000020.10:g.61050572G>A	(Likely) benign	1 lab	1078330c7e
4:1087327 RNF212 G>GCTGCCCAGGCTGGAGCCAGCC	4	1087327	1087328	G	GCTGCCCAGGCTGGAGCCAGCC	RNF212	c.721_722insGGCTGGCTCCAGCCTGGGCAG	NM_001193318.2	NP_001180247.1:p.(Ser241delinsTrpLeuAlaProAlaTrpAlaAla)	NC_000004.11:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	(Likely) benign	1 lab	107c5aa7ce
9:34371328 MYORG C>T	9	34371328	34371328	C	T	MYORG	c.1614G>A	NM_020702.5	NP_065753.2:p.(Val538=)	NC_000009.11:g.34371328C>T	(Likely) benign	1 lab	107c6c975e
6:146720360 GRM1 C>A	6	146720360	146720360	C	A	GRM1	c.2185C>A	NM_001278064.1	NP_001264993.1:p.(Pro729Thr)	NC_000006.11:g.146720360C>A	(Likely) benign	1 lab	107d6abccb
10:75865045 VCL T>C	10	75865045	75865045	T	C	VCL	c.2368T>C	NM_014000.2	NP_054706.1:p.(Leu790=)	NC_000010.10:g.75865045T>C	(Likely) benign	1 lab	107e53d5cb
6:84913771 CEP162 C>T	6	84913771	84913771	C	T	CEP162	c.615G>A	NM_014895.4	NP_055710.2:p.(Pro205=)	NC_000006.11:g.84913771C>T	(Likely) benign	1 lab	107f953a3b
X:22208579 PHEX G>A	X	22208579	22208579	G	A	PHEX	c.1605G>A	NM_000444.5	NP_000435.3:p.(Thr535=)	NC_000023.10:g.22208579G>A	(Likely) benign	1 lab	10812b599a
14:21861722 CHD8 G>A	14	21861722	21861722	G	A	CHD8	c.6232C>T	NM_001170629.1	NP_001164100.1:p.(Leu2078=)	NC_000014.8:g.21861722G>A	(Likely) benign	1 lab	1081563de9
6:161455375 MAP3K4 T>A	6	161455375	161455375	T	A	MAP3K4	c.237T>A	NM_001301072.1	NP_001288001.1:p.(Asn79Lys)	NC_000006.11:g.161455375T>A	(Likely) benign	1 lab	10818c80e1
15:40912962 KNL1 A>G	15	40912962	40912962	A	G	KNL1	c.578A>G	NM_170589.4	NP_733468.3:p.(Asp193Gly)	NC_000015.9:g.40912962A>G	VUS	1 lab	108243619b
X:128723933 OCRL G>A	X	128723933	128723933	G	A	OCRL	c.2581G>A	NM_000276.3	NP_000267.2:p.(Ala861Thr)	NC_000023.10:g.128723933G>A	VUS	1 lab	1083b4af2e
2:86307966 POLR1A C>A	2	86307966	86307966	C	A	POLR1A	c.1059G>T	NM_015425.5	NP_056240.2:p.(Glu353Asp)	NC_000002.11:g.86307966C>A	(Likely) benign	1 lab	108469588a
16:74750287 FA2H T>G	16	74750287	74750287	T	G	FA2H	c.997A>C	NM_024306.4	NP_077282.3:p.(Lys333Gln)	NC_000016.9:g.74750287T>G	VUS	1 lab	108489d8ae
1:45807169 TOE1 C>T	1	45807169	45807169	C	T	TOE1	c.261C>T	NM_025077.4	NP_079353.3:p.(Ala87=)	NC_000001.10:g.45807169C>T	(Likely) benign	1 lab	1084abeaed
1:214557482 PTPN14 C>A	1	214557482	214557482	C	A	PTPN14	c.1716G>T	NM_005401.4	NP_005392.2:p.(Arg572=)	NC_000001.10:g.214557482C>A	(Likely) benign	1 lab	1085f49e6c
18:32418050 DTNA T>C	18	32418050	32418050	T	C	DTNA	c.1086-10210T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32418050T>C	(Likely) benign	1 lab	e29d42a756
9:140708954 EHMT1 C>T	9	140708954	140708954	C	T	EHMT1	c.3252C>T	NM_024757.4	NP_079033.4:p.(Tyr1084=)	NC_000009.11:g.140708954C>T	(Likely) benign	1 lab	108a64dad8
7:107576012 LAMB1 C>G	7	107576012	107576012	C	G	LAMB1	c.4036G>C	NM_002291.2	NP_002282.2:p.(Val1346Leu)	NC_000007.13:g.107576012C>G	VUS	1 lab	108b4c6a73
1:152276303 FLG G>A	1	152276303	152276303	G	A	FLG	c.11059C>T	NM_002016.1	NP_002007.1:p.(Pro3687Ser)	NC_000001.10:g.152276303G>A	VUS	1 lab	108becf6f5
19:36592610 WDR62 A>C	19	36592610	36592610	A	C	WDR62	c.3016A>C	NM_001083961.1	NP_001077430.1:p.(Ile1006Leu)	NC_000019.9:g.36592610A>C	(Likely) benign	1 lab	108bfd5dfd
X:153032985 PLXNB3 G>A	X	153032985	153032985	G	A	PLXNB3	c.772G>A	NM_001163257.1	NP_001156729.1:p.(Val258Ile)	NC_000023.10:g.153032985G>A	VUS	1 lab	108c0e877c
9:20881950 FOCAD G>A	9	20881950	20881950	G	A	FOCAD	c.2398G>A	NM_017794.4	NP_060264.4:p.(Gly800Arg)	NC_000009.11:g.20881950G>A	VUS	1 lab	108c245421
3:132198139 DNAJC13 G>A	3	132198139	132198139	G	A	DNAJC13	c.2772+6G>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132198139G>A	(Likely) benign	1 lab	108c25b3d1
6:159190875 EZR G>A	6	159190875	159190875	G	A	EZR	c.1192C>T	NM_003379.4	NP_003370.2:p.(Arg398Trp)	NC_000006.11:g.159190875G>A	VUS	1 lab	108c35ea74
3:186257384 CRYGS A>T	3	186257384	186257384	A	T	CRYGS	c.24T>A	NM_017541.3	NP_060011.1:p.(Ile8=)	NC_000003.11:g.186257384A>T	(Likely) benign	1 lab	108e28b895
10:73539072 CDH23 C>T	10	73539072	73539072	C	T	CDH23	c.5236C>T	NM_022124.5	NP_071407.4:p.(Arg1746Trp)	NC_000010.10:g.73539072C>T	VUS	1 lab	108e6de5eb
18:50432679 DCC A>T	18	50432679	50432679	A	T	DCC	c.678A>T	NM_005215.3	NP_005206.2:p.(Ala226=)	NC_000018.9:g.50432679A>T	(Likely) benign	1 lab	108e9e2c68
4:108866274 CYP2U1 C>T	4	108866274	108866274	C	T	CYP2U1	c.639C>T	NM_183075.2	NP_898898.1:p.(His213=)	NC_000004.11:g.108866274C>T	(Likely) benign	1 lab	108f18aa3f
16:2168122 PKD1 C>A	16	2168122	2168122	C	A	PKD1	c.871G>T	NM_001009944.2	NP_001009944.2:p.(Ala291Ser)	NC_000016.9:g.2168122C>A	(Likely) benign	1 lab	108f2723d7
12:48379337 COL2A1 G>A	12	48379337	48379337	G	A	COL2A1	c.1714C>T	NM_001844.4	NP_001835.3:p.(Gln572Ter)	NC_000012.11:g.48379337G>A	(Likely) pathogenic	1 lab	108fbc91c7
2:29449819 ALK C>T	2	29449819	29449819	C	T	ALK				NC_000002.11:g.29449819C>T	(Likely) benign	1 lab	118fb20955
20:44526754 CTSA G>T	20	44526754	44526754	G	T	CTSA	c.1359+6G>T	NM_001127695.2	NP_001121167.1:p.?	NC_000020.10:g.44526754G>T	(Likely) benign	1 lab	1091be2285
X:77271275 ATP7A T>C	X	77271275	77271275	T	C	ATP7A	c.2523T>C	NM_000052.6	NP_000043.4:p.(Leu841=)	NC_000023.10:g.77271275T>C	(Likely) benign	1 lab	10938d4bce
8:41522530 ANK1 G>A	8	41522530	41522530	G	A	ANK1	c.12C>T	NM_020478.4	NP_065211.2:p.(Phe4=)	NC_000008.10:g.41522530G>A	(Likely) benign	1 lab	109554417c
X:26212102 MAGEB6 G>A	X	26212102	26212102	G	A	MAGEB6	c.139G>A	NM_173523.2	NP_775794.2:p.(Ala47Thr)	NC_000023.10:g.26212102G>A	(Likely) benign	1 lab	10956e478d
12:116413007 MED13L TC>T	12	116413007	116413008	TC	T	MED13L	c.5699del	NM_015335.5	NP_056150.1:p.(Arg1900HisfsTer61)	NC_000012.11:g.116413008del	(Likely) pathogenic	1 lab	e2a173f67a
8:143356220 TSNARE1 A>G	8	143356220	143356220	A	G	TSNARE1	c.711T>C	NM_001291931.1	NP_001278860.1:p.(Ser237=)	NC_000008.10:g.143356220A>G	(Likely) benign	1 lab	1096f1ff74
12:52182529 SCN8A G>A	12	52182529	52182529	G	A	SCN8A	c.4278G>A	NM_001330260.1	NP_001317189.1:p.(Arg1426=)	NC_000012.11:g.52182529G>A	(Likely) benign	1 lab	10975459b8
2:179638653 TTN A>G	2	179638653	179638653	A	G	TTN	c.7242T>C	NM_001267550.1	NP_001254479.1:p.(Ile2414=)	NC_000002.11:g.179638653A>G	(Likely) benign	1 lab	109a0d4966
X:67293106 OPHN1 C>T	X	67293106	67293106	C	T	OPHN1	c.1722G>A	NM_002547.2	NP_002538.1:p.(Pro574=)	NC_000023.10:g.67293106C>T	(Likely) benign	1 lab	109a6854a3
19:10266596 DNMT1 G>A	19	10266596	10266596	G	A	DNMT1	c.1377C>T	NM_001379.3	NP_001370.1:p.(Gly459=)	NC_000019.9:g.10266596G>A	(Likely) benign	1 lab	109c74d541
17:29554268 NF1 C>CT	17	29554268	29554269	C	CT	NF1	c.2285dup	NM_000267.3	NP_000258.1:p.(Leu763AlafsTer5)	NC_000017.10:g.29554269dup	(Likely) pathogenic	1 lab	109eb2e5e6
X:13778847 OFD1 A>G	X	13778847	13778847	A	G	OFD1	c.1840+8A>G	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13778847A>G	(Likely) benign	1 lab	109f53a33f
5:110436301 WDR36 G>A	5	110436301	110436301	G	A	WDR36	c.591G>A	NM_139281.2	NP_644810.1:p.(Gln197=)	NC_000005.9:g.110436301G>A	(Likely) benign	1 lab	10a07f0ecd
10:50679101 ERCC6 T>A	10	50679101	50679101	T	A	ERCC6	c.2990A>T	NM_000124.2	NP_000115.1:p.(Lys997Ile)	NC_000010.10:g.50679101T>A	VUS	1 lab	10a0de5d6c
17:16852112 TNFRSF13B T>C	17	16852112	16852112	T	C	TNFRSF13B	c.385A>G	NM_012452.2	NP_036584.1:p.(Asn129Asp)	NC_000017.10:g.16852112T>C	(Likely) benign	1 lab	10a26e3b59
3:99569473 FILIP1L C>T	3	99569473	99569473	C	T	FILIP1L	c.1047G>A	NM_001042459.2	NP_001035924.1:p.(Glu349=)	NC_000003.11:g.99569473C>T	(Likely) benign	1 lab	10a2872067
9:108377565 FKTN C>T	9	108377565	108377565	C	T	FKTN	c.787C>T	NM_001079802.1	NP_001073270.1:p.(Leu263Phe)	NC_000009.11:g.108377565C>T	(Likely) benign	1 lab	10a2b4eb17
2:170088242 LRP2 G>A	2	170088242	170088242	G	A	LRP2	c.5209C>T	NM_004525.3	NP_004516.2:p.(Leu1737Phe)	NC_000002.11:g.170088242G>A	(Likely) benign	1 lab	10a54163b6
X:153588242 FLNA A>G	X	153588242	153588242	A	G	FLNA	c.3837T>C	NM_001110556.2	NP_001104026.1:p.(Ser1279=)	NC_000023.10:g.153588242A>G	(Likely) benign	1 lab	10a57bdd83
17:5487255 NLRP1 C>T	17	5487255	5487255	C	T	NLRP1	c.23G>A	NM_033004.4	NP_127497.1:p.(Arg8His)	NC_000017.10:g.5487255C>T	VUS	1 lab	10a70ae608
X:55513867 USP51 A>G	X	55513867	55513867	A	G	USP51	c.1506T>C	NM_201286.3	NP_958443.1:p.(His502=)	NC_000023.10:g.55513867A>G	(Likely) benign	1 lab	10a782cf33
X:34962802 FAM47B C>G	X	34962802	34962802	C	G	FAM47B	c.1854C>G	NM_152631.2	NP_689844.2:p.(Tyr618Ter)	NC_000023.10:g.34962802C>G	VUS	1 lab	10a8dd7ec0
15:85360253 ALPK3 G>T	15	85360253	85360253	G	T	ALPK3	c.176G>T	NM_020778.4	NP_065829.3:p.(Arg59Leu)	NC_000015.9:g.85360253G>T	VUS	1 lab	10ab883ca2
7:117351725 CTTNBP2 CTT>C	7	117351725	117351728	CTT	C	CTTNBP2	c.4856_4857del	NM_033427.3	NP_219499.1:p.(Lys1619SerfsTer16)	NC_000007.13:g.117351727_117351728del	VUS	1 lab	10ac7b4883
22:41543887 EP300 AC>A	22	41543887	41543891	AC	A	EP300	c.2182del	NM_001429.4	NP_001420.2:p.(Arg728GlyfsTer48)	NC_000022.10:g.41543891del	(Likely) pathogenic	1 lab	10ad343795
9:133967026 LAMC3 G>A	9	133967026	133967026	G	A	LAMC3	c.4580G>A	NM_006059.3	NP_006050.3:p.(Arg1527Lys)	NC_000009.11:g.133967026G>A	VUS	1 lab	10af19bb2c
X:132352240 TFDP3 G>A	X	132352240	132352240	G	A	TFDP3	c.48C>T	NM_016521.2	NP_057605.3:p.(Val16=)	NC_000023.10:g.132352240G>A	(Likely) benign	1 lab	10afd57021
20:49509063 ADNP G>GT	20	49509063	49509069	G	GT	ADNP	c.2187dup	NM_001282531.2	NP_001269460.1:p.(Arg730ThrfsTer5)	NC_000020.10:g.49509069dup	(Likely) pathogenic	1 lab	10b1da976b
8:145557702 SCRT1 C>T	8	145557702	145557702	C	T	SCRT1	c.192G>A	NM_031309.6	NP_112599.2:p.(Ser64=)	NC_000008.10:g.145557702C>T	(Likely) benign	1 lab	10b28c5d91
2:86074998 ST3GAL5 G>A	2	86074998	86074998	G	A	ST3GAL5	c.264C>T	NM_001354248.1	NP_001341177.1:p.(Phe88=)	NC_000002.11:g.86074998G>A	(Likely) benign	1 lab	10b2bb79b1
1:216017801 USH2A G>C	1	216017801	216017801	G	C	USH2A	c.9093C>G	NM_206933.2	NP_996816.2:p.(Ile3031Met)	NC_000001.10:g.216017801G>C	VUS	1 lab	10b5d323f9
16:72923711 ZFHX3 G>A	16	72923711	72923711	G	A	ZFHX3	c.3367C>T	NM_006885.3	NP_008816.3:p.(Arg1123Trp)	NC_000016.9:g.72923711G>A	VUS	1 lab	10b68ab9f7
10:100189228 HPS1 C>T	10	100189228	100189228	C	T	HPS1	c.921G>A	NM_001322490.1	NP_001309419.1:p.(Lys307=)	NC_000010.10:g.100189228C>T	(Likely) benign	1 lab	10b6d623c9
5:140604548 PCDHB14 C>T	5	140604548	140604548	C	T	PCDHB14	c.1471C>T	NM_018934.3	NP_061757.1:p.(Leu491=)	NC_000005.9:g.140604548C>T	(Likely) benign	1 lab	10b93d7818
8:133645065 DNAAF11 G>C	8	133645065	133645065	G	C	DNAAF11	c.574C>G	NM_012472.6	NP_036604.2:p.(Gln192Glu)	NC_000008.10:g.133645065G>C	(Likely) benign	1 lab	e2a506b4fe
17:29684370 NF1 C>CA	17	29684370	29684373	C	CA	NF1	c.7893dup	NM_000267.3	NP_000258.1:p.(Val2632SerfsTer7)	NC_000017.10:g.29684373dup	(Likely) pathogenic	1 lab	10bb3529b0
7:128480193 FLNC A>C	7	128480193	128480193	A	C	FLNC	c.1528A>C	NM_001458.4	NP_001449.3:p.(Lys510Gln)	NC_000007.13:g.128480193A>C	VUS	1 lab	10bcc2aee8
16:222891 HBA2 C>T	16	222891	222891	C	T	HBA2	c.-21C>T	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.222891C>T	(Likely) benign	1 lab	10bd033416
1:160321568 NCSTN C>T	1	160321568	160321568	C	T	NCSTN	c.756C>T	NM_001290184.1	NP_001277113.1:p.(Asp252=)	NC_000001.10:g.160321568C>T	(Likely) benign	1 lab	10bdf66e49
X:152821670 ATP2B3 G>A	X	152821670	152821670	G	A	ATP2B3	c.2222G>A	NM_021949.3	NP_068768.2:p.(Arg741His)	NC_000023.10:g.152821670G>A	VUS	1 lab	10be2b831b
2:47300999 TTC7A C>T	2	47300999	47300999	C	T	TTC7A	c.2586C>T	NM_001288951.1	NP_001275880.1:p.(Thr862=)	NC_000002.11:g.47300999C>T	(Likely) benign	1 lab	10be804cc8
22:38379459 SOX10 G>T	22	38379459	38379459	G	T	SOX10	c.333C>A	NM_006941.3	NP_008872.1:p.(Phe111Leu)	NC_000022.10:g.38379459G>T	(Likely) pathogenic	1 lab	10c1d2f555
3:184042081 EIF4G1 AGAT>A	3	184042081	184042092	AGAT	A	EIF4G1	c.2574_2576del	NM_198241.3	NP_937884.2:p.(Asp858del)	NC_000003.11:g.184042090_184042092del	VUS	1 lab	10c3d0827a
18:21136526 NPC1 C>T	18	21136526	21136526	C	T	NPC1	c.1007G>A	NM_000271.4	NP_000262.2:p.(Arg336Lys)	NC_000018.9:g.21136526C>T	(Likely) benign	1 lab	10c6ae6dcb
17:18024308 MYO15A C>T	17	18024308	18024308	C	T	MYO15A	c.2194C>T	NM_016239.3	NP_057323.3:p.(Pro732Ser)	NC_000017.10:g.18024308C>T	VUS	1 lab	10c7a8c447
22:38119996 TRIOBP G>C	22	38119996	38119996	G	C	TRIOBP	c.1433G>C	NM_001039141.2	NP_001034230.1:p.(Arg478Thr)	NC_000022.10:g.38119996G>C	VUS	1 lab	10c80b2d48
8:74529528 STAU2 TGAG>T	8	74529528	74529534	TGAG	T	STAU2	c.566_568del	NM_001164380.2	NP_001157852.1:p.(Pro189del)	NC_000008.10:g.74529532_74529534del	VUS	1 lab	10cc5cab8e
7:65435266 GUSB C>T	7	65435266	65435266	C	T	GUSB	c.1476+3G>A	NM_000181.3	NP_000172.2:p.?	NC_000007.13:g.65435266C>T	VUS	1 lab	10cc9e948d
1:236902757 ACTN2 C>T	1	236902757	236902757	C	T	ACTN2	c.1032C>T	NM_001103.3	NP_001094.1:p.(Asn344=)	NC_000001.10:g.236902757C>T	(Likely) benign	1 lab	10cdd809c9
20:41101180 PTPRT G>A	20	41101180	41101180	G	A	PTPRT	c.1176C>T	NM_133170.3	NP_573400.3:p.(Asn392=)	NC_000020.10:g.41101180G>A	(Likely) benign	1 lab	10ce039903
15:100801762 ADAMTS17 G>T	15	100801762	100801762	G	T	ADAMTS17	c.953C>A	NM_139057.3	NP_620688.2:p.(Ala318Glu)	NC_000015.9:g.100801762G>T	VUS	1 lab	10cf6a61f1
2:220285674 DES C>T	2	220285674	220285674	C	T	DES	c.1022C>T	NM_001927.3	NP_001918.3:p.(Thr341Ile)	NC_000002.11:g.220285674C>T	VUS	1 lab	10d212b5bd
X:49126948 PPP1R3F G>T	X	49126948	49126948	G	T	PPP1R3F	c.616G>T	NM_033215.4	NP_149992.3:p.(Ala206Ser)	NC_000023.10:g.49126948G>T	VUS	1 lab	10d2cdc80b
16:75512546 CHST6 C>T	16	75512546	75512546	C	T	CHST6	c.1181G>A	NM_021615.5	NP_067628.1:p.(Arg394Gln)	NC_000016.9:g.75512546C>T	VUS	1 lab	10d4ae7605
4:10079446 WDR1 G>A	4	10079446	10079446	G	A	WDR1	c.1500C>T	NM_017491.4	NP_059830.1:p.(Asp500=)	NC_000004.11:g.10079446G>A	(Likely) benign	1 lab	10d4f419fa
17:80039706 FASN C>T	17	80039706	80039706	C	T	FASN	c.6177G>A	NM_004104.5	NP_004095.4:p.(Gln2059=)	NC_000017.10:g.80039706C>T	(Likely) benign	1 lab	10d7dfb6bc
12:49445846 KMT2D A>G	12	49445846	49445846	A	G	KMT2D	c.1620T>C	NM_003482.3	NP_003473.3:p.(Pro540=)	NC_000012.11:g.49445846A>G	(Likely) benign	1 lab	10d973d01b
16:2114373 TSC2 TG>T	16	2114373	2114375	TG	T	TSC2	c.1546del	NM_000548.5	NP_000539.2:p.(Ala516GlnfsTer19)	NC_000016.9:g.2114375del	(Likely) pathogenic	1 lab	10db6f5d91
17:57758663 CLTC C>T	17	57758663	57758663	C	T	CLTC	c.3085C>T	NM_001288653.1	NP_001275582.1:p.(Gln1029Ter)	NC_000017.10:g.57758663C>T	(Likely) pathogenic	1 lab	10dc4070f9
7:5662671 RNF216 G>A	7	5662671	5662671	G	A	RNF216	c.2592C>T	NM_207111.3	NP_996994.1:p.(Phe864=)	NC_000007.13:g.5662671G>A	(Likely) benign	1 lab	10dd1b025b
8:61765383 CHD7 T>C	8	61765383	61765383	T	C	CHD7				NC_000008.10:g.61765383T>C	(Likely) benign	1 lab	10dd39df66
22:25601265 CRYBB3 G>A	22	25601265	25601265	G	A	CRYBB3	c.406G>A	NM_004076.4	NP_004067.1:p.(Val136Met)	NC_000022.10:g.25601265G>A	VUS	1 lab	10dd83adcc
7:116409692 MET C>CTTTTT	7	116409692	116409696	C	CTTTTT	MET	c.2638-4_2638-3insTTTTT	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116409695_116409696insTTTTT	(Likely) benign	1 lab	10dd8b65ad
16:57687907 ADGRG1 G>A	16	57687907	57687907	G	A	ADGRG1	c.630G>A	NM_001145772.2	NP_001139244.1:p.(Gln210=)	NC_000016.9:g.57687907G>A	(Likely) benign	1 lab	10dee2ac87
17:35545323 ACACA G>A	17	35545323	35545323	G	A	ACACA	c.4559C>T	NM_198839.2	NP_942136.1:p.(Thr1520Met)	NC_000017.10:g.35545323G>A	VUS	1 lab	10df6a8f7e
4:158091801 GLRB G>A	4	158091801	158091801	G	A	GLRB	c.1415G>A	NM_000824.4	NP_000815.1:p.(Arg472Gln)	NC_000004.11:g.158091801G>A	VUS	1 lab	10dfbd767e
17:29509614 NF1 CCTT>C	17	29509614	29509617	CCTT	C	NF1	c.820_822del	NM_001042492.3	NP_001035957.1:p.(Leu274del)	NC_000017.10:g.29509615_29509617del	(Likely) pathogenic	1 lab	10e06996ea
2:179484430 TTN A>G	2	179484430	179484430	A	G	TTN	c.46614T>C	NM_001267550.1	NP_001254479.1:p.(Ile15538=)	NC_000002.11:g.179484430A>G	(Likely) benign	1 lab	10e0f42a22
6:24798881 ARMH2 A>G	6	24798881	24798881	A	G	ARMH2	c.205T>C	NM_001282492.1	NP_001269421.1:p.(Ser69Pro)	NC_000006.11:g.24798881A>G	VUS	1 lab	10e189977b
5:13776566 DNAH5 T>C	5	13776566	13776566	T	C	DNAH5	c.9355A>G	NM_001369.2	NP_001360.1:p.(Lys3119Glu)	NC_000005.9:g.13776566T>C	VUS	1 lab	10e2a4958e
20:31024859 ASXL1 A>G	20	31024859	31024859	A	G	ASXL1	c.4344A>G	NM_015338.5	NP_056153.2:p.(Gln1448=)	NC_000020.10:g.31024859A>G	(Likely) benign	1 lab	10e3af0a58
1:183525353 NCF2 C>A	1	183525353	183525353	C	A	NCF2	c.1481G>T	NM_000433.3	NP_000424.2:p.(Trp494Leu)	NC_000001.10:g.183525353C>A	VUS	1 lab	10e3ca9f0f
1:100480947 SLC35A3 C>T	1	100480947	100480947	C	T	SLC35A3	c.724C>T	NM_012243.2	NP_036375.1:p.(Arg242Ter)	NC_000001.10:g.100480947C>T	(Likely) pathogenic	1 lab	10e4ce681b
9:2646445 VLDLR G>A	9	2646445	2646445	G	A	VLDLR	c.1596G>A	NM_003383.4	NP_003374.3:p.(Ala532=)	NC_000009.11:g.2646445G>A	(Likely) benign	1 lab	10e6682004
12:80900391 MISSING T>C	12	80900391	80900391	T	C	MISSING				NC_000012.11:g.80900391T>C	(Likely) benign	1 lab	10e6de96c0
12:21033897 SLCO1B3 TTACC>T	12	21033897	21033902	TTACC	T	SLCO1B3	c.1442_1445del	NM_019844.4	NP_062818.1:p.(Tyr481CysfsTer5)	NC_000012.11:g.21033899_21033902del	VUS	1 lab	10e88995a3
X:110987987 ALG13 A>G	X	110987987	110987987	A	G	ALG13	c.2553A>G	NM_001257231.1	NP_001244160.1:p.(Pro851=)	NC_000023.10:g.110987987A>G	(Likely) benign	1 lab	10e9337ab3
15:41137018 SPINT1 G>A	15	41137018	41137018	G	A	SPINT1	c.266G>A	NM_181642.2	NP_857593.1:p.(Arg89His)	NC_000015.9:g.41137018G>A	VUS	1 lab	10e9d21395
9:133928088 LAMC3 T>C	9	133928088	133928088	T	C	LAMC3	c.1823+18T>C	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133928088T>C	(Likely) benign	1 lab	10ea288624
19:41209691 COQ8B CA>C	19	41209691	41209694	CA	C	COQ8B	c.645del	NM_024876.4	NP_079152.3:p.(Phe215LeufsTer14)	NC_000019.9:g.41209694del	(Likely) pathogenic	1 lab	10eaae98ba
16:89349570 ANKRD11 C>CT	16	89349570	89349571	C	CT	ANKRD11	c.3379dup	NM_001256182.1	NP_001243111.1:p.(Arg1127LysfsTer43)	NC_000016.9:g.89349571dup	(Likely) pathogenic	1 lab	10eb269d49
7:113558919 PPP1R3A C>T	7	113558919	113558919	C	T	PPP1R3A	c.133G>A	NM_002711.3	NP_002702.2:p.(Gly45Ser)	NC_000007.13:g.113558919C>T	(Likely) benign	1 lab	10ec034439
X:18631276 CDKL5 A>T	X	18631276	18631276	A	T	CDKL5	c.2157A>T	NM_001323289.1	NP_001310218.1:p.(Pro719=)	NC_000023.10:g.18631276A>T	(Likely) benign	1 lab	10ec41b54d
1:20680538 VWA5B1 G>A	1	20680538	20680538	G	A	VWA5B1	c.3430G>A	NM_001039500.3	NP_001034589.2:p.(Val1144Met)	NC_000001.10:g.20680538G>A	VUS	1 lab	10ed91b214
11:4661750 OR51D1 C>A	11	4661750	4661750	C	A	OR51D1	c.730C>A	NM_001004751.2	NP_001004751.1:p.(Arg244=)	NC_000011.9:g.4661750C>A	(Likely) benign	1 lab	10eeee2280
1:27875403 AHDC1 G>A	1	27875403	27875403	G	A	AHDC1	c.3224C>T	NM_001029882.3	NP_001025053.1:p.(Thr1075Ile)	NC_000001.10:g.27875403G>A	VUS	1 lab	e2aa27f640
2:179489991 TTN T>C	2	179489991	179489991	T	C	TTN	c.44548+9A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179489991T>C	(Likely) benign	1 lab	10f12b54ec
16:2137853 TSC2 T>C	16	2137853	2137853	T	C	TSC2	c.4990-11T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137853T>C	(Likely) benign	1 lab	10f31355b0
2:220285297 DES C>T	2	220285297	220285297	C	T	DES	c.816C>T	NM_001927.4	NP_001918.3:p.(Ala272=)	NC_000002.11:g.220285297C>T	(Likely) benign	1 lab	e2b261b707
10:76158335 ADK G>T	10	76158335	76158335	G	T	ADK	c.502G>T	NM_001123.3	NP_001114.2:p.(Ala168Ser)	NC_000010.10:g.76158335G>T	(Likely) benign	1 lab	10f48ad7e7
11:76823637 CAPN5 C>T	11	76823637	76823637	C	T	CAPN5	c.300C>T	NM_004055.4	NP_004046.2:p.(Val100=)	NC_000011.9:g.76823637C>T	(Likely) benign	1 lab	10f6364165
5:76624816 PDE8B A>G	5	76624816	76624816	A	G	PDE8B	c.219-7A>G	NM_001349753.1	NP_001336682.1:p.?	NC_000005.9:g.76624816A>G	(Likely) benign	1 lab	10f65c5064
8:48710934 PRKDC G>A	8	48710934	48710934	G	A	PRKDC	c.10322C>T	NM_006904.6	NP_008835.5:p.(Ala3441Val)	NC_000008.10:g.48710934G>A	(Likely) benign	1 lab	10f6aca0d7
2:85892908 SFTPB C>T	2	85892908	85892908	C	T	SFTPB	c.439G>A	NM_198843.2	NP_942140.2:p.(Gly147Ser)	NC_000002.11:g.85892908C>T	(Likely) benign	1 lab	10f76377a2
11:76893020 MYO7A G>A	11	76893020	76893020	G	A	MYO7A	c.2928G>A	NM_000260.3	NP_000251.3:p.(Glu976=)	NC_000011.9:g.76893020G>A	(Likely) benign	1 lab	10f78820d8
X:99661498 PCDH19 C>T	X	99661498	99661498	C	T	PCDH19	c.2098G>A	NM_001184880.1	NP_001171809.1:p.(Ala700Thr)	NC_000023.10:g.99661498C>T	VUS	1 lab	10f7e533be
14:75002696 LTBP2 C>T	14	75002696	75002696	C	T	LTBP2	c.1797G>A	NM_000428.2	NP_000419.1:p.(Pro599=)	NC_000014.8:g.75002696C>T	(Likely) benign	1 lab	10f830b157
2:105472591 POU3F3 C>A	2	105472591	105472591	C	A	POU3F3	c.623C>A	NM_006236.2	NP_006227.1:p.(Ser208Tyr)	NC_000002.11:g.105472591C>A	VUS	1 lab	10f93ee9c1
14:99697665 BCL11B G>A	14	99697665	99697665	G	A	BCL11B	c.640+17C>T	NM_138576.3	NP_612808.1:p.?	NC_000014.8:g.99697665G>A	(Likely) benign	1 lab	10f97426a6
2:220432095 OBSL1 G>T	2	220432095	220432095	G	T	OBSL1	c.1737C>A	NM_015311.2	NP_056126.1:p.(Gly579=)	NC_000002.11:g.220432095G>T	(Likely) benign	1 lab	10fa713d24
X:110928237 ALG13 G>A	X	110928237	110928237	G	A	ALG13	c.55G>A	NM_001257231.1	NP_001244160.1:p.(Val19Ile)	NC_000023.10:g.110928237G>A	(Likely) benign	1 lab	10fb800d36
14:38016099 MIPOL1 C>T	14	38016099	38016099	C	T	MIPOL1	c.1263-11C>T	NM_001195296.2	NP_001182225.1:p.?	NC_000014.8:g.38016099C>T	(Likely) benign	1 lab	e2b6221ffc
19:9070608 MUC16 G>C	19	9070608	9070608	G	C	MUC16	c.16838C>G	NM_024690.2	NP_078966.2:p.(Thr5613Ser)	NC_000019.9:g.9070608G>C	(Likely) benign	1 lab	10fd01d289
3:49138829 QARS1 C>T	3	49138829	49138829	C	T	QARS1	c.835G>A	NM_005051.2	NP_005042.1:p.(Gly279Arg)	NC_000003.11:g.49138829C>T	VUS	1 lab	10fd783232
3:10089738 FANCD2 A>G	3	10089738	10089738	A	G	FANCD2	c.1413+3A>G	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10089738A>G	(Likely) benign	1 lab	e2b63c3e73
21:47805857 PCNT C>T	21	47805857	47805857	C	T	PCNT	c.3423C>T	NM_006031.5	NP_006022.3:p.(Leu1141=)	NC_000021.8:g.47805857C>T	(Likely) benign	1 lab	10fe8b49e5
17:29548886 NF1 C>T	17	29548886	29548886	C	T	NF1	c.1660C>T	NM_000267.3	NP_000258.1:p.(Gln554Ter)	NC_000017.10:g.29548886C>T	(Likely) pathogenic	1 lab	10feaf97fe
14:76232469 TTLL5 C>G	14	76232469	76232469	C	G	TTLL5	c.1773C>G	NM_015072.4	NP_055887.3:p.(Val591=)	NC_000014.8:g.76232469C>G	(Likely) benign	1 lab	10ff322495
2:231036840 SP110 T>C	2	231036840	231036840	T	C	SP110	c.1757A>G	NM_080424.2	NP_536349.2:p.(Gln586Arg)	NC_000002.11:g.231036840T>C	(Likely) benign	1 lab	1100cdb83e
5:123983339 ZNF608 T>C	5	123983339	123983339	T	C	ZNF608	c.2738A>G	NM_020747.2	NP_065798.2:p.(Gln913Arg)	NC_000005.9:g.123983339T>C	VUS	1 lab	1102b93b73
21:34900592 GART G>A	21	34900592	34900592	G	A	GART	c.947C>T	NM_001136005.1	NP_001129477.1:p.(Thr316Ile)	NC_000021.8:g.34900592G>A	VUS	1 lab	11049a478b
1:110086376 GPR61 G>A	1	110086376	110086376	G	A	GPR61	c.732G>A	NM_031936.4	NP_114142.3:p.(Pro244=)	NC_000001.10:g.110086376G>A	(Likely) benign	1 lab	1105a6ce31
9:35561277 RUSC2 C>G	9	35561277	35561277	C	G	RUSC2	c.4449C>G	NM_001135999.1	NP_001129471.1:p.(Asp1483Glu)	NC_000009.11:g.35561277C>G	VUS	1 lab	1106a47a76
16:2159205 PKD1 G>A	16	2159205	2159205	G	A	PKD1	c.5963C>T	NM_001009944.2	NP_001009944.2:p.(Thr1988Ile)	NC_000016.9:g.2159205G>A	(Likely) benign	1 lab	1107482fd9
X:153135274 L1CAM G>A	X	153135274	153135274	G	A	L1CAM	c.1107C>T	NM_001278116.1	NP_001265045.1:p.(Asn369=)	NC_000023.10:g.153135274G>A	(Likely) benign	1 lab	11090cf812
16:70954796 HYDIN C>T	16	70954796	70954796	C	T	HYDIN	c.7483G>A	NM_001270974.2	NP_001257903.1:p.(Asp2495Asn)	NC_000016.9:g.70954796C>T	VUS	1 lab	e2be4c04f0
11:102076723 YAP1 A>G	11	102076723	102076723	A	G	YAP1	c.902A>G	NM_001282101.1	NP_001269030.1:p.(Asn301Ser)	NC_000011.9:g.102076723A>G	(Likely) benign	1 lab	110a5527be
7:100645201 MUC12 C>T	7	100645201	100645201	C	T	MUC12	c.11357C>T	NM_001164462.1	NP_001157934.1:p.(Ala3786Val)	NC_000007.13:g.100645201C>T	(Likely) benign	1 lab	110b4c1707
6:132206085 ENPP1 T>C	6	132206085	132206085	T	C	ENPP1	c.2326T>C	NM_006208.3	NP_006199.2:p.(Phe776Leu)	NC_000006.11:g.132206085T>C	(Likely) benign	1 lab	110d6f0027
12:116457753 MED13L T>G	12	116457753	116457753	T	G	MED13L	c.650A>C	NM_015335.4	NP_056150.1:p.(Asn217Thr)	NC_000012.11:g.116457753T>G	(Likely) benign	1 lab	110dc1abae
7:146536994 CNTNAP2 T>G	7	146536994	146536994	T	G	CNTNAP2	c.400T>G	NM_014141.5	NP_054860.1:p.(Trp134Gly)	NC_000007.13:g.146536994T>G	VUS	1 lab	11103209db
X:115304065 AGTR2 A>G	X	115304065	115304065	A	G	AGTR2	c.532A>G	NM_000686.4	NP_000677.2:p.(Thr178Ala)	NC_000023.10:g.115304065A>G	VUS	1 lab	11136ccc8b
5:94861208 SKIC3 ATAAAG>A	5	94861208	94861215	ATAAAG	A	SKIC3	c.1222-8_1222-4del	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94861211_94861215del	VUS	1 lab	11150eb980
10:73553276 CDH23 G>A	10	73553276	73553276	G	A	CDH23	c.6591G>A	NM_022124.5	NP_071407.4:p.(Thr2197=)	NC_000010.10:g.73553276G>A	(Likely) benign	1 lab	11157454ce
X:153284991 IRAK1 G>A	X	153284991	153284991	G	A	IRAK1	c.195C>T	NM_001569.3	NP_001560.2:p.(Arg65=)	NC_000023.10:g.153284991G>A	VUS	1 lab	1119a4a3a0
6:10796265 MAK G>A	6	10796265	10796265	G	A	MAK	c.1109C>T	NM_001242957.2	NP_001229886.1:p.(Thr370Met)	NC_000006.11:g.10796265G>A	(Likely) benign	1 lab	1119ce9fa5
5:90079076 ADGRV1 C>T	5	90079076	90079076	C	T	ADGRV1	c.13367C>T	NM_032119.4	NP_115495.3:p.(Thr4456Ile)	NC_000005.9:g.90079076C>T	(Likely) benign	1 lab	111ab5dd5b
19:10394404 ICAM1 G>A	19	10394404	10394404	G	A	ICAM1	c.579G>A	NM_000201.2	NP_000192.2:p.(Arg193=)	NC_000019.9:g.10394404G>A	(Likely) benign	1 lab	111c003352
16:85699962 GSE1 G>A	16	85699962	85699962	G	A	GSE1	c.3130+9G>A	NM_014615.4	NP_055430.1:p.?	NC_000016.9:g.85699962G>A	(Likely) benign	1 lab	111c43ebb7
5:90459705 ADGRV1 C>T	5	90459705	90459705	C	T	ADGRV1	c.18909C>T	NM_032119.4	NP_115495.3:p.(Asp6303=)	NC_000005.9:g.90459705C>T	(Likely) benign	1 lab	111c5cb8c9
3:71090581 FOXP1 G>A	3	71090581	71090581	G	A	FOXP1	c.767C>T	NM_001244808.1	NP_001231737.1:p.(Thr256Met)	NC_000003.11:g.71090581G>A	VUS	1 lab	111d46555f
X:71358777 NHSL2 G>A	X	71358777	71358777	G	A	NHSL2	c.1379G>A	NM_001013627.2	NP_001013649.2:p.(Arg460His)	NC_000023.10:g.71358777G>A	(Likely) benign	1 lab	111dea3922
8:2041856 MYOM2 A>G	8	2041856	2041856	A	G	MYOM2	c.2063A>G	NM_003970.4	NP_003961.3:p.(Asn688Ser)	NC_000008.10:g.2041856A>G	VUS	1 lab	e2c0537fd3
9:140695389 EHMT1 G>C	9	140695389	140695389	G	C	EHMT1	c.2665G>C	NM_024757.5	NP_079033.4:p.(Val889Leu)	NC_000009.11:g.140695389G>C	VUS	1 lab	e2c1c548fc
X:100496666 DRP2 C>G	X	100496666	100496666	C	G	DRP2	c.569C>G	NM_001939.2	NP_001930.2:p.(Pro190Arg)	NC_000023.10:g.100496666C>G	VUS	1 lab	1120e5cde7
2:98355835 ZAP70 C>T	2	98355835	98355835	C	T	ZAP70	c.1737-3C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98355835C>T	VUS	1 lab	1120f1c2ca
22:41573384 EP300 C>G	22	41573384	41573384	C	G	EP300	c.5669C>G	NM_001429.3	NP_001420.2:p.(Thr1890Ser)	NC_000022.10:g.41573384C>G	VUS	1 lab	112243dc9b
16:89347654 ANKRD11 C>T	16	89347654	89347654	C	T	ANKRD11	c.5296G>A	NM_001256182.1	NP_001243111.1:p.(Val1766Met)	NC_000016.9:g.89347654C>T	VUS	1 lab	1122ae2b94
9:135786837 TSC1 T>C	9	135786837	135786837	T	C	TSC1	c.1029+3A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786837T>C	(Likely) pathogenic	1 lab	1123009d9c
9:134394274 POMT1 C>T	9	134394274	134394274	C	T	POMT1	c.1320C>T	NM_001353198.1	NP_001340127.1:p.(Val440=)	NC_000009.11:g.134394274C>T	(Likely) benign	1 lab	1123b26228
8:144997447 PLEC G>A	8	144997447	144997447	G	A	PLEC	c.7061C>T	NM_201380.3	NP_958782.1:p.(Thr2354Met)	NC_000008.10:g.144997447G>A	(Likely) benign	1 lab	1123f11e3a
16:89351531 ANKRD11 G>A	16	89351531	89351531	G	A	ANKRD11	c.1419C>T	NM_001256182.1	NP_001243111.1:p.(Ser473=)	NC_000016.9:g.89351531G>A	(Likely) benign	1 lab	11240c3c02
1:26135249 SELENON G>A	1	26135249	26135249	G	A	SELENON	c.716G>A	NM_020451.3	NP_065184.2:p.(Arg239His)	NC_000001.10:g.26135249G>A	VUS	1 lab	e2c1ef96d4
14:68252643 ZFYVE26 C>T	14	68252643	68252643	C	T	ZFYVE26	c.3236G>A	NM_015346.3	NP_056161.2:p.(Ser1079Asn)	NC_000014.8:g.68252643C>T	(Likely) benign	1 lab	112618b101
14:76045828 FLVCR2 C>G	14	76045828	76045828	C	G	FLVCR2	c.513C>G	NM_017791.2	NP_060261.2:p.(Ser171Arg)	NC_000014.8:g.76045828C>G	VUS	1 lab	11281c4fd5
9:135801069 TSC1 G>GGA	9	135801069	135801071	G	GGA	TSC1	c.266_267dup	NM_000368.4	NP_000359.1:p.(Leu90SerfsTer9)	NC_000009.11:g.135801070_135801071dup	(Likely) pathogenic	1 lab	11283c709c
4:88535831 DSPP G>A	4	88535831	88535831	G	A	DSPP	c.2017G>A	NM_014208.3	NP_055023.2:p.(Asp673Asn)	NC_000004.11:g.88535831G>A	(Likely) benign	1 lab	11292326a9
6:43413552 ABCC10 G>A	6	43413552	43413552	G	A	ABCC10	c.3162G>A	NM_033450.2	NP_258261.2:p.(Gln1054=)	NC_000006.11:g.43413552G>A	(Likely) benign	1 lab	112a769e6d
4:2709938 FAM193A C>T	4	2709938	2709938	C	T	FAM193A	c.3565C>T	NM_001256666.1	NP_001243595.1:p.(Arg1189Cys)	NC_000004.11:g.2709938C>T	(Likely) benign	1 lab	112ad2cb0a
16:4386946 GLIS2 C>T	16	4386946	4386946	C	T	GLIS2	c.996C>T	NM_001318918.1	NP_001305847.1:p.(Arg332=)	NC_000016.9:g.4386946C>T	(Likely) benign	1 lab	112af62231
13:49054146 RB1 C>A	13	49054146	49054146	C	A	RB1	c.2726C>A	NM_000321.2	NP_000312.2:p.(Thr909Lys)	NC_000013.10:g.49054146C>A	VUS	1 lab	112f0ff6f1
18:9122590 NDUFV2 T>C	18	9122590	9122590	T	C	NDUFV2	c.380T>C	NM_021074.4	NP_066552.2:p.(Val127Ala)	NC_000018.9:g.9122590T>C	VUS	1 lab	112f4b06ce
4:88959424 PKD2 G>A	4	88959424	88959424	G	A	PKD2	c.865G>A	NM_000297.4	NP_000288.1:p.(Asp289Asn)	NC_000004.11:g.88959424G>A	VUS	1 lab	e2c3af4028
9:35657947 RMRP C>A	9	35657947	35657947	C	A	RMRP	n.69G>T	NR_003051.3		NC_000009.11:g.35657947C>A	VUS	1 lab	112ffe09b1
2:136566823 LCT C>T	2	136566823	136566823	C	T	LCT	c.3094G>A	NM_002299.2	NP_002290.2:p.(Gly1032Ser)	NC_000002.11:g.136566823C>T	VUS	1 lab	1130d4ba1a
3:49141350 QARS1 G>A	3	49141350	49141350	G	A	QARS1	c.321C>T	NM_005051.2	NP_005042.1:p.(Phe107=)	NC_000003.11:g.49141350G>A	(Likely) benign	1 lab	1131119fa5
18:72250899 CNDP1 G>A	18	72250899	72250899	G	A	CNDP1	c.1412G>A	NM_032649.5	NP_116038.4:p.(Gly471Glu)	NC_000018.9:g.72250899G>A	VUS	1 lab	113124f63f
22:30077427 NF2 G>A	22	30077427	30077427	G	A	NF2	c.1575-1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30077427G>A	(Likely) pathogenic	1 lab	1133ed1e42
15:101427782 ALDH1A3 C>T	15	101427782	101427782	C	T	ALDH1A3	c.210C>T	NM_000693.3	NP_000684.2:p.(Asp70=)	NC_000015.9:g.101427782C>T	(Likely) benign	1 lab	11353a7731
14:105417137 AHNAK2 C>T	14	105417137	105417137	C	T	AHNAK2	c.4651G>A	NM_138420.3	NP_612429.2:p.(Glu1551Lys)	NC_000014.8:g.105417137C>T	(Likely) benign	1 lab	11380e2739
X:47486247 CFP G>A	X	47486247	47486247	G	A	CFP	c.865C>T	NM_002621.2	NP_002612.1:p.(Pro289Ser)	NC_000023.10:g.47486247G>A	VUS	1 lab	11381d27c5
21:47836547 PCNT T>C	21	47836547	47836547	T	C	PCNT	c.6715T>C	NM_006031.5	NP_006022.3:p.(Trp2239Arg)	NC_000021.8:g.47836547T>C	(Likely) benign	1 lab	1138ea823c
3:142232385 ATR C>T	3	142232385	142232385	C	T	ATR	c.4599G>A	NM_001184.3	NP_001175.2:p.(Leu1533=)	NC_000003.11:g.142232385C>T	(Likely) benign	1 lab	1138f4ee48
9:133907539 LAMC3 G>A	9	133907539	133907539	G	A	LAMC3	c.786G>A	NM_006059.3	NP_006050.3:p.(Val262=)	NC_000009.11:g.133907539G>A	(Likely) benign	1 lab	11392c2bfc
7:5569157 ACTB C>CT	7	5569157	5569158	C	CT	ACTB	c.123+8dup	NM_001101.3	NP_001092.1:p.?	NC_000007.13:g.5569158dup	(Likely) benign	1 lab	11393f8509
21:47532401 COL6A2 G>T	21	47532401	47532401	G	T	COL6A2	c.624G>T	NM_058175.2	NP_478055.2:p.(Pro208=)	NC_000021.8:g.47532401G>T	(Likely) benign	1 lab	1139869e7b
9:136521654 DBH G>A	9	136521654	136521654	G	A	DBH	c.1444G>A	NM_000787.3	NP_000778.3:p.(Gly482Arg)	NC_000009.11:g.136521654G>A	VUS	1 lab	113a96520b
1:235884111 LYST G>C	1	235884111	235884111	G	C	LYST	c.9410C>G	NM_000081.3	NP_000072.2:p.(Thr3137Ser)	NC_000001.10:g.235884111G>C	(Likely) benign	1 lab	113a9f06c2
2:72359460 CYP26B1 C>T	2	72359460	72359460	C	T	CYP26B1	c.1435G>A	NM_019885.3	NP_063938.1:p.(Val479Ile)	NC_000002.11:g.72359460C>T	VUS	1 lab	113ae1e43b
10:73575014 CDH23 C>G	10	73575014	73575014	C	G	CDH23	c.10044C>G	NM_022124.5	NP_071407.4:p.(Pro3348=)	NC_000010.10:g.73575014C>G	(Likely) benign	1 lab	113afcfac8
5:139422364 NRG2 C>T	5	139422364	139422364	C	T	NRG2	c.291G>A	NM_013982.2	NP_053585.1:p.(Pro97=)	NC_000005.9:g.139422364C>T	(Likely) benign	1 lab	113bb3654e
22:50696732 MAPK12 T>TG	22	50696732	50696739	T	TG	MAPK12	c.256-3dup	NM_002969.6	NP_002960.2:p.?	NC_000022.10:g.50696739dup	(Likely) benign	1 lab	113bb3c7e1
8:22275154 SLC39A14 G>A	8	22275154	22275154	G	A	SLC39A14	c.1148-10G>A	NM_001351660.1	NP_001338589.1:p.?	NC_000008.10:g.22275154G>A	(Likely) benign	1 lab	113c11accd
X:135427384 ADGRG4 T>C	X	135427384	135427384	T	C	ADGRG4	c.1519T>C	NM_153834.3	NP_722576.3:p.(Leu507=)	NC_000023.10:g.135427384T>C	(Likely) benign	1 lab	114206f923
X:100653020 GLA C>T	X	100653020	100653020	C	T	GLA	c.1067G>A	NM_000169.2	NP_000160.1:p.(Arg356Gln)	NC_000023.10:g.100653020C>T	VUS	1 lab	11420f92b4
9:138657596 KCNT1 A>T	9	138657596	138657596	A	T	KCNT1	c.1327A>T	NM_020822.2	NP_065873.2:p.(Met443Leu)	NC_000009.11:g.138657596A>T	(Likely) benign	1 lab	11438407df
16:15802705 MYH11 CAGAG>C	16	15802705	15802714	CAGAG	C	MYH11	c.5787-4729_5787-4726del	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15802711_15802714del	(Likely) benign	1 lab	1144f4c7d8
4:53731813 RASL11B C>T	4	53731813	53731813	C	T	RASL11B	c.588C>T	NM_023940.3	NP_076429.1:p.(Val196=)	NC_000004.11:g.53731813C>T	(Likely) benign	1 lab	114505693b
11:121033017 TECTA A>G	11	121033017	121033017	A	G	TECTA	c.5210A>G	NM_005422.2	NP_005413.2:p.(Tyr1737Cys)	NC_000011.9:g.121033017A>G	VUS	1 lab	11466ab527
10:127460838 MMP21 G>C	10	127460838	127460838	G	C	MMP21	c.928C>G	NM_147191.1	NP_671724.1:p.(Pro310Ala)	NC_000010.10:g.127460838G>C	VUS	1 lab	1146934b94
21:46897756 COL18A1 G>T	21	46897756	46897756	G	T	COL18A1	c.1638G>T	NM_030582.4	NP_085059.2:p.(Pro546=)	NC_000021.8:g.46897756G>T	(Likely) benign	1 lab	1146cdcda5
9:139327015 INPP5E G>A	9	139327015	139327015	G	A	INPP5E	c.1303C>T	NM_019892.5	NP_063945.2:p.(Arg435Trp)	NC_000009.11:g.139327015G>A	(Likely) pathogenic	1 lab	1147506250
7:116339927 MET G>A	7	116339927	116339927	G	A	MET	c.789G>A	NM_001127500.1	NP_001120972.1:p.(Thr263=)	NC_000007.13:g.116339927G>A	(Likely) benign	1 lab	114806ebe7
7:100802330 AP1S1 G>A	7	100802330	100802330	G	A	AP1S1	c.292-10G>A	NM_001283.5	NP_001274.1:p.?	NC_000007.13:g.100802330G>A	(Likely) benign	1 lab	11496def82
12:120168419 CIT G>A	12	120168419	120168419	G	A	CIT	c.3367C>T	NM_001206999.1	NP_001193928.1:p.(Arg1123Trp)	NC_000012.11:g.120168419G>A	VUS	1 lab	114c2df530
3:142186917 ATR T>C	3	142186917	142186917	T	C	ATR	c.6553-7A>G	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142186917T>C	VUS	1 lab	1150441c03
22:51133347 SHANK3 C>T	22	51133347	51133347	C	T	SHANK3	c.1400C>T	NM_001372044.2	NP_001358973.1:p.(Ser467Leu)	NC_000022.10:g.51133347C>T	VUS	1 lab	e2c5886889
X:64738290 LAS1L G>A	X	64738290	64738290	G	A	LAS1L	c.1504C>T	NM_031206.4	NP_112483.1:p.(Arg502Cys)	NC_000023.10:g.64738290G>A	VUS	1 lab	1150792b33
X:50345656 SHROOM4 C>T	X	50345656	50345656	C	T	SHROOM4	c.3919G>A	NM_020717.3	NP_065768.2:p.(Asp1307Asn)	NC_000023.10:g.50345656C>T	VUS	1 lab	1150c753d7
22:24898310 UPB1 C>T	22	24898310	24898310	C	T	UPB1	c.364+129C>T	NM_016327.3	NP_057411.1:p.?	NC_000022.10:g.24898310C>T	(Likely) benign	1 lab	e2c7bdbd8c
10:43596110 RET G>A	10	43596110	43596110	G	A	RET	c.277G>A	NM_020975.6	NP_066124.1:p.(Gly93Ser)	NC_000010.10:g.43596110G>A	(Likely) pathogenic	1 lab	e2c7fdef28
7:100730590 TRIM56 C>T	7	100730590	100730590	C	T	TRIM56	c.-1-3C>T	NM_030961.3	NP_112223.1:p.?	NC_000007.13:g.100730590C>T	(Likely) benign	1 lab	11525f7c83
2:55863477 PNPT1 T>C	2	55863477	55863477	T	C	PNPT1	c.2247A>G	NM_033109.4	NP_149100.2:p.(Arg749=)	NC_000002.11:g.55863477T>C	(Likely) benign	1 lab	1152f24ee7
3:58124126 FLNB C>G	3	58124126	58124126	C	G	FLNB	c.5072C>G	NM_001164317.1	NP_001157789.1:p.(Ala1691Gly)	NC_000003.11:g.58124126C>G	VUS	1 lab	11557c8ee6
17:36485772 GPR179 T>C	17	36485772	36485772	T	C	GPR179	c.3680A>G	NM_001004334.3	NP_001004334.3:p.(Lys1227Arg)	NC_000017.10:g.36485772T>C	(Likely) benign	1 lab	1155f893b3
1:19203965 ALDH4A1 C>G	1	19203965	19203965	C	G	ALDH4A1	c.1082G>C	NM_003748.4	NP_003739.2:p.(Trp361Ser)	NC_000001.10:g.19203965C>G	VUS	1 lab	115768573c
17:29483087 NF1 C>G	17	29483087	29483087	C	G	NF1	c.147C>G	NM_000267.3	NP_000258.1:p.(Tyr49Ter)	NC_000017.10:g.29483087C>G	(Likely) pathogenic	1 lab	1159ff0729
17:61498768 TANC2 G>C	17	61498768	61498768	G	C	TANC2	c.5425G>C	NM_025185.4	NP_079461.2:p.(Glu1809Gln)	NC_000017.10:g.61498768G>C	VUS	1 lab	e2ca0003a7
22:25251592 SGSM1 A>C	22	25251592	25251592	A	C	SGSM1	c.746A>C	NM_001039948.3	NP_001035037.1:p.(His249Pro)	NC_000022.10:g.25251592A>C	VUS	1 lab	115af77302
15:48766724 FBN1 C>A	15	48766724	48766724	C	A	FBN1	c.4087+1G>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48766724C>A	(Likely) pathogenic	1 lab	115d70dff9
1:13475206 MISSING T>A	1	13475206	13475206	T	A	MISSING				NC_000001.10:g.13475206T>A	(Likely) benign	1 lab	11678006ac
12:124171429 TCTN2 C>T	12	124171429	124171429	C	T	TCTN2	c.611C>T	NM_024809.4	NP_079085.2:p.(Thr204Ile)	NC_000012.11:g.124171429C>T	(Likely) benign	1 lab	1168cdccb6
X:135958769 RBMX C>G	X	135958769	135958769	C	G	RBMX	c.434G>C	NM_002139.4	NP_002130.2:p.(Gly145Ala)	NC_000023.10:g.135958769C>G	VUS	1 lab	11692a1f38
3:183853308 EIF2B5 A>G	3	183853308	183853308	A	G	EIF2B5	c.135A>G	NM_003907.3	NP_003898.2:p.(Ala45=)	NC_000003.11:g.183853308A>G	VUS	1 lab	1169960dd3
1:12025630 PLOD1 G>A	1	12025630	12025630	G	A	PLOD1	c.1705G>A	NM_001316320.1	NP_001303249.1:p.(Glu569Lys)	NC_000001.10:g.12025630G>A	VUS	1 lab	116b01c02e
21:45751766 CFAP410 C>T	21	45751766	45751766	C	T	CFAP410	c.505G>A	NM_001271441.1	NP_001258370.1:p.(Glu169Lys)	NC_000021.8:g.45751766C>T	(Likely) benign	1 lab	116b48fbe5
12:48527131 PFKM G>C	12	48527131	48527131	G	C	PFKM	c.770G>C	NM_001354736.1	NP_001341665.1:p.(Ser257Thr)	NC_000012.11:g.48527131G>C	VUS	1 lab	116f367384
17:8792490 PIK3R5 C>T	17	8792490	8792490	C	T	PIK3R5	c.861G>A	NM_001142633.2	NP_001136105.1:p.(Arg287=)	NC_000017.10:g.8792490C>T	VUS	1 lab	117083c80a
4:121706194 PRDM5 C>A	4	121706194	121706194	C	A	PRDM5	c.1241G>T	NM_018699.3	NP_061169.2:p.(Arg414Leu)	NC_000004.11:g.121706194C>A	VUS	1 lab	11715aee7c
19:13319706 CACNA1A T>G	19	13319706	13319706	T	G	CACNA1A	c.6662A>C	NM_023035.2	NP_075461.2:p.(His2221Pro)	NC_000019.9:g.13319706T>G	VUS	1 lab	11717ffa4b
X:51637863 MAGED1 C>T	X	51637863	51637863	C	T	MAGED1	c.186C>T	NM_001005333.1	NP_001005333.1:p.(Cys62=)	NC_000023.10:g.51637863C>T	(Likely) benign	1 lab	1173a5588f
16:2134671 TSC2 G>C	16	2134671	2134671	G	C	TSC2	c.4448G>C	NM_000548.3	NP_000539.2:p.(Arg1483Thr)	NC_000016.9:g.2134671G>C	(Likely) benign	1 lab	1175a106b5
2:74590160 DCTN1 T>C	2	74590160	74590160	T	C	DCTN1	c.3490A>G	NM_004082.4	NP_004073.2:p.(Thr1164Ala)	NC_000002.11:g.74590160T>C	(Likely) benign	1 lab	1175c7749a
12:113573207 RASAL1 CCTT>C	12	113573207	113573210	CCTT	C	RASAL1	c.58_60del	NM_001301202.2	NP_001288131.1:p.(Lys20del)	NC_000012.11:g.113573208_113573210del	VUS	1 lab	1177cb98c9
7:104766745 SRPK2 C>G	7	104766745	104766745	C	G	SRPK2	c.1832G>C	NM_001350744.1	NP_001337673.1:p.(Arg611Thr)	NC_000007.13:g.104766745C>G	VUS	1 lab	11786d9a11
11:47353761 MYBPC3 G>A	11	47353761	47353761	G	A	MYBPC3	c.3676C>T	NM_000256.3	NP_000247.2:p.(Arg1226Cys)	NC_000011.9:g.47353761G>A	VUS	1 lab	1179e81c78
6:33756817 LEMD2 G>T	6	33756817	33756817	G	T	LEMD2	c.77C>A	NM_181336.3	NP_851853.1:p.(Thr26Asn)	NC_000006.11:g.33756817G>T	VUS	1 lab	117b5dd1d9
9:14776066 FREM1 G>C	9	14776066	14776066	G	C	FREM1	c.4578C>G	NM_144966.5	NP_659403.4:p.(Ser1526=)	NC_000009.11:g.14776066G>C	(Likely) benign	1 lab	117d6fb1d9
X:47098540 USP11 C>T	X	47098540	47098540	C	T	USP11	c.377C>T	NM_004651.3	NP_004642.2:p.(Thr126Ile)	NC_000023.10:g.47098540C>T	VUS	1 lab	117db8031b
8:110450575 PKHD1L1 T>C	8	110450575	110450575	T	C	PKHD1L1	c.3650T>C	NM_177531.6	NP_803875.2:p.(Ile1217Thr)	NC_000008.10:g.110450575T>C	(Likely) benign	1 lab	117f95426e
16:2158945 PKD1 G>A	16	2158945	2158945	G	A	PKD1	c.6223C>T	NM_001009944.2	NP_001009944.2:p.(Arg2075Cys)	NC_000016.9:g.2158945G>A	VUS	1 lab	1181ee4f52
X:70680545 TAF1 G>A	X	70680545	70680545	G	A	TAF1	c.5357G>A	NM_001286074.1	NP_001273003.1:p.(Arg1786His)	NC_000023.10:g.70680545G>A	(Likely) benign	1 lab	118544d74f
22:36701114 MYH9 C>T	22	36701114	36701114	C	T	MYH9	c.2194G>A	NM_002473.5	NP_002464.1:p.(Gly732Ser)	NC_000022.10:g.36701114C>T	VUS	1 lab	1185970657
4:109782121 COL25A1 G>A	4	109782121	109782121	G	A	COL25A1	c.1204C>T	NM_198721.3	NP_942014.1:p.(Arg402Cys)	NC_000004.11:g.109782121G>A	VUS	1 lab	1185bf006e
6:99885238 USP45 T>C	6	99885238	99885238	T	C	USP45	c.2198A>G	NM_001080481.1	NP_001073950.1:p.(Tyr733Cys)	NC_000006.11:g.99885238T>C	VUS	1 lab	118690148f
14:24002125 ZFHX2 T>G	14	24002125	24002125	T	G	ZFHX2	c.2210A>C	NM_033400.3	NP_207646.2:p.(Tyr737Ser)	NC_000014.8:g.24002125T>G	(Likely) benign	1 lab	11869c2861
13:48955449 RB1 AT>A	13	48955449	48955452	AT	A	RB1	c.1568del	NM_000321.3	NP_000312.2:p.(Leu523Ter)	NC_000013.10:g.48955452del	(Likely) pathogenic	1 lab	e2cb010384
7:100635120 MUC12 G>A	7	100635120	100635120	G	A	MUC12	c.1276G>A	NM_001164462.1	NP_001157934.1:p.(Asp426Asn)	NC_000007.13:g.100635120G>A	(Likely) benign	1 lab	11889cf15f
10:25313561 THNSL1 C>A	10	25313561	25313561	C	A	THNSL1	c.1409C>A	NM_024838.5	NP_079114.3:p.(Ser470Tyr)	NC_000010.10:g.25313561C>A	VUS	1 lab	118951ef27
2:168105814 XIRP2 G>A	2	168105814	168105814	G	A	XIRP2	c.7912G>A	NM_152381.5	NP_689594.4:p.(Ala2638Thr)	NC_000002.11:g.168105814G>A	(Likely) benign	1 lab	118a4edbd7
4:178257452 NEIL3 A>G	4	178257452	178257452	A	G	NEIL3	c.604A>G	NM_018248.3	NP_060718.3:p.(Ser202Gly)	NC_000004.11:g.178257452A>G	VUS	1 lab	118aef9713
22:38120116 TRIOBP C>A	22	38120116	38120116	C	A	TRIOBP	c.1553C>A	NM_001039141.2	NP_001034230.1:p.(Pro518His)	NC_000022.10:g.38120116C>A	VUS	1 lab	118af1ec72
14:68252939 ZFYVE26 C>T	14	68252939	68252939	C	T	ZFYVE26	c.3031G>A	NM_015346.3	NP_056161.2:p.(Asp1011Asn)	NC_000014.8:g.68252939C>T	VUS	1 lab	118c0d157d
X:19444456 MAP3K15 C>T	X	19444456	19444456	C	T	MAP3K15	c.1172G>A	NM_001001671.3	NP_001001671.3:p.(Arg391His)	NC_000023.10:g.19444456C>T	VUS	1 lab	118e02f0cc
6:152690102 SYNE1 G>A	6	152690102	152690102	G	A	SYNE1	c.9807+5C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152690102G>A	(Likely) benign	1 lab	118e1ee72a
X:7870137 PNPLA4 C>T	X	7870137	7870137	C	T	PNPLA4	c.523G>A	NM_004650.2	NP_004641.1:p.(Val175Ile)	NC_000023.10:g.7870137C>T	(Likely) benign	1 lab	118f4f621e
22:38120491 TRIOBP C>T	22	38120491	38120491	C	T	TRIOBP	c.1928C>T	NM_001039141.2	NP_001034230.1:p.(Thr643Ile)	NC_000022.10:g.38120491C>T	(Likely) benign	1 lab	118faf71fe
16:22122315 VWA3A C>T	16	22122315	22122315	C	T	VWA3A	c.689C>T	NM_173615.4	NP_775886.3:p.(Thr230Ile)	NC_000016.9:g.22122315C>T	(Likely) benign	1 lab	11904b23ec
15:91454710 MAN2A2 G>A	15	91454710	91454710	G	A	MAN2A2	c.2039G>A	NM_001320977.1	NP_001307906.1:p.(Gly680Asp)	NC_000015.9:g.91454710G>A	VUS	1 lab	1190c15a5e
6:170878826 TBP A>G	6	170878826	170878826	A	G	TBP	c.804A>G	NM_003194.4	NP_003185.1:p.(Ile268Met)	NC_000006.11:g.170878826A>G	VUS	1 lab	1193031c12
9:139438537 NOTCH1 G>T	9	139438537	139438537	G	T	NOTCH1	c.79C>A	NM_017617.5	NP_060087.3:p.(Pro27Thr)	NC_000009.11:g.139438537G>T	(Likely) benign	1 lab	11933a3b4a
7:33313567 BBS9 C>T	7	33313567	33313567	C	T	BBS9	c.1015C>T	NM_198428.2	NP_940820.1:p.(His339Tyr)	NC_000007.13:g.33313567C>T	VUS	1 lab	1193d97e7c
4:984022 SLC26A1 C>T	4	984022	984022	C	T	SLC26A1	c.705G>A	NM_213613.3	NP_998778.1:p.(Arg235=)	NC_000004.11:g.984022C>T	(Likely) benign	1 lab	1194f8ac2f
X:152482623 MAGEA1 C>T	X	152482623	152482623	C	T	MAGEA1	c.388G>A	NM_004988.4	NP_004979.3:p.(Glu130Lys)	NC_000023.10:g.152482623C>T	(Likely) benign	1 lab	119521f6ee
2:162280263 TBR1 C>CGCTGCAG	2	162280263	162280283	C	CGCTGCAG	TBR1	c.1588_1594dup	NM_006593.3	NP_006584.1:p.(Thr532ArgfsTer144)	NC_000002.11:g.162280277_162280283dup	(Likely) pathogenic	1 lab	1195f37f7b
1:45294693 PTCH2 C>T	1	45294693	45294693	C	T	PTCH2	c.1425G>A	NM_001166292.1	NP_001159764.1:p.(Ala475=)	NC_000001.10:g.45294693C>T	(Likely) benign	1 lab	11968752ea
X:154197623 F8 A>C	X	154197623	154197623	A	C	F8	c.992T>G	NM_000132.3	NP_000123.1:p.(Ile331Ser)	NC_000023.10:g.154197623A>C	VUS	1 lab	1196ae8130
6:2949149 SERPINB6 G>A	6	2949149	2949149	G	A	SERPINB6	c.728C>T	NM_001297699.1	NP_001284628.1:p.(Thr243Met)	NC_000006.11:g.2949149G>A	VUS	1 lab	1199c4ae95
10:28260096 ODAD2 AT>A	10	28260096	28260098	AT	A	ODAD2	c.1082del	NM_018076.5	NP_060546.2:p.(Asn361IlefsTer3)	NC_000010.10:g.28260098del	(Likely) pathogenic	1 lab	1199f0d3db
2:74594019 DCTN1 T>A	2	74594019	74594019	T	A	DCTN1	c.2357A>T	NM_004082.4	NP_004073.2:p.(Asp786Val)	NC_000002.11:g.74594019T>A	VUS	1 lab	119a027d57
15:63928217 HERC1 G>A	15	63928217	63928217	G	A	HERC1	c.12357C>T	NM_003922.3	NP_003913.3:p.(Ser4119=)	NC_000015.9:g.63928217G>A	(Likely) benign	1 lab	119a11b2b0
X:50378384 SHROOM4 C>T	X	50378384	50378384	C	T	SHROOM4	c.689G>A	NM_020717.3	NP_065768.2:p.(Arg230Gln)	NC_000023.10:g.50378384C>T	(Likely) benign	1 lab	119a38013d
22:20024596 TANGO2 C>G	22	20024596	20024596	C	G	TANGO2	c.158C>G	NM_001322141.1	NP_001309070.1:p.(Ser53Ter)	NC_000022.10:g.20024596C>G	VUS	1 lab	119b8fe725
11:6569505 DNHD1 C>T	11	6569505	6569505	C	T	DNHD1	c.6971C>T	NM_144666.2	NP_653267.2:p.(Pro2324Leu)	NC_000011.9:g.6569505C>T	(Likely) benign	1 lab	119c7ff937
2:32339736 SPAST C>A	2	32339736	32339736	C	A	SPAST	c.712C>A	NM_014946.3	NP_055761.2:p.(Pro238Thr)	NC_000002.11:g.32339736C>A	VUS	1 lab	119d976048
13:52524290 ATP7B G>A	13	52524290	52524290	G	A	ATP7B	c.2583C>T	NM_000053.3	NP_000044.2:p.(Ala861=)	NC_000013.10:g.52524290G>A	(Likely) benign	1 lab	119efcb38c
1:6202618 CHD5 G>A	1	6202618	6202618	G	A	CHD5	c.2091C>T	NM_015557.3	NP_056372.1:p.(Gly697=)	NC_000001.10:g.6202618G>A	(Likely) benign	1 lab	11a11f5f9f
10:129904148 MKI67 G>A	10	129904148	129904148	G	A	MKI67	c.5956C>T	NM_002417.4	NP_002408.3:p.(Pro1986Ser)	NC_000010.10:g.129904148G>A	(Likely) benign	1 lab	11a14376f7
4:79391154 FRAS1 C>A	4	79391154	79391154	C	A	FRAS1	c.7280C>A	NM_025074.7	NP_079350.5:p.(Pro2427Gln)	NC_000004.11:g.79391154C>A	(Likely) benign	1 lab	11a17f59dc
13:32747657 FRY G>A	13	32747657	32747657	G	A	FRY	c.2305G>A	NM_023037.2	NP_075463.2:p.(Ala769Thr)	NC_000013.10:g.32747657G>A	VUS	1 lab	11a2091872
3:167510404 SERPINI1 A>G	3	167510404	167510404	A	G	SERPINI1	c.508A>G	NM_005025.4	NP_005016.1:p.(Arg170Gly)	NC_000003.11:g.167510404A>G	(Likely) benign	1 lab	11a4afb2d6
6:51927467 PKHD1 C>T	6	51927467	51927467	C	T	PKHD1	c.977-9G>A	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51927467C>T	(Likely) benign	1 lab	11a66d868e
1:236187372 NID1 T>C	1	236187372	236187372	T	C	NID1	c.2126A>G	NM_002508.2	NP_002499.2:p.(Tyr709Cys)	NC_000001.10:g.236187372T>C	VUS	1 lab	11a6e8d247
4:15556832 CC2D2A C>T	4	15556832	15556832	C	T	CC2D2A	c.2624C>T	NM_001080522.2	NP_001073991.2:p.(Ser875Leu)	NC_000004.11:g.15556832C>T	VUS	1 lab	11a7322d52
2:20180473 WDR35 T>G	2	20180473	20180473	T	G	WDR35	c.286A>C	NM_001006657.1	NP_001006658.1:p.(Ile96Leu)	NC_000002.11:g.20180473T>G	VUS	1 lab	11b9449b3c
X:153577231 FLNA C>T	X	153577231	153577231	C	T	FLNA	c.7930G>A	NM_001110556.2	NP_001104026.1:p.(Val2644Ile)	NC_000023.10:g.153577231C>T	(Likely) benign	1 lab	11ab292507
13:108861634 LIG4 A>G	13	108861634	108861634	A	G	LIG4	c.1983T>C	NM_002312.3	NP_002303.2:p.(Asp661=)	NC_000013.10:g.108861634A>G	(Likely) benign	1 lab	11acb1ee0a
16:57685489 ADGRG1 A>G	16	57685489	57685489	A	G	ADGRG1	c.442A>G	NM_001145772.2	NP_001139244.1:p.(Asn148Asp)	NC_000016.9:g.57685489A>G	VUS	1 lab	11ad27a495
17:73840395 UNC13D C>T	17	73840395	73840395	C	T	UNC13D	c.24G>A	NM_199242.2	NP_954712.1:p.(Pro8=)	NC_000017.10:g.73840395C>T	(Likely) benign	1 lab	11ad4efef4
3:10184169 VHL AC>A	3	10184169	10184170	AC	A	VHL	c.340+299del	NM_000551.4	NP_000542.1:p.?	NC_000003.11:g.10184170del	(Likely) pathogenic	1 lab	11afe91421
22:21083617 PI4KA C>T	22	21083617	21083617	C	T	PI4KA	c.4666G>A	NM_058004.3	NP_477352.3:p.(Val1556Met)	NC_000022.10:g.21083617C>T	VUS	1 lab	11b040019e
X:53264313 IQSEC2 T>G	X	53264313	53264313	T	G	IQSEC2	c.3555A>C	NM_001111125.2	NP_001104595.1:p.(Pro1185=)	NC_000023.10:g.53264313T>G	(Likely) benign	1 lab	11b13d10ad
3:194061905 CPN2 C>A	3	194061905	194061905	C	A	CPN2	c.1527G>T	NM_001080513.4	NP_001073982.3:p.(Gln509His)	NC_000003.11:g.194061905C>A	(Likely) benign	1 lab	11b360adaf
9:135785966 TSC1 G>T	9	135785966	135785966	G	T	TSC1	c.1255C>A	NM_000368.4	NP_000359.1:p.(Pro419Thr)	NC_000009.11:g.135785966G>T	(Likely) benign	1 lab	11b4fdbe6c
8:144808763 SACK1H G>A	8	144808763	144808763	G	A	SACK1H	c.2868C>T	NM_198488.3	NP_940890.3:p.(Ser956=)	NC_000008.10:g.144808763G>A	(Likely) benign	1 lab	11b59024d7
6:152576082 SYNE1 A>G	6	152576082	152576082	A	G	SYNE1	c.19403T>C	NM_182961.3	NP_892006.3:p.(Leu6468Pro)	NC_000006.11:g.152576082A>G	VUS	1 lab	11b67261b9
14:102515808 DYNC1H1 G>A	14	102515808	102515808	G	A	DYNC1H1	c.13404G>A	NM_001376.4	NP_001367.2:p.(Thr4468=)	NC_000014.8:g.102515808G>A	(Likely) benign	1 lab	11b7f67d88
2:198570300 MARS2 G>A	2	198570300	198570300	G	A	MARS2	c.171G>A	NM_138395.3	NP_612404.1:p.(Ala57=)	NC_000002.11:g.198570300G>A	(Likely) benign	1 lab	11b875bf82
5:178408714 GRM6 C>A	5	178408714	178408714	C	A	GRM6	c.2578G>T	NM_000843.4	NP_000834.2:p.(Ala860Ser)	NC_000005.9:g.178408714C>A	VUS	1 lab	11b96ca53a
19:13008224 GCDH G>A	19	13008224	13008224	G	A	GCDH	c.1064G>A	NM_000159.3	NP_000150.1:p.(Arg355His)	NC_000019.9:g.13008224G>A	(Likely) pathogenic	1 lab	11babc444f
2:233677092 GIGYF2 C>T	2	233677092	233677092	C	T	GIGYF2	c.2007-9C>T	NM_015575.3	NP_056390.2:p.?	NC_000002.11:g.233677092C>T	(Likely) benign	1 lab	11bae83615
8:55539523 RP1 A>G	8	55539523	55539523	A	G	RP1	c.3081A>G	NM_006269.1	NP_006260.1:p.(Ser1027=)	NC_000008.10:g.55539523A>G	(Likely) benign	1 lab	11bb551500
17:42428926 GRN CTG>C	17	42428926	42428930	CTG	C	GRN	c.945_946del	NM_002087.4	NP_002078.1:p.(Cys315Ter)	NC_000017.10:g.42428929_42428930del	(Likely) pathogenic	1 lab	11bb6159f3
19:12924296 RNASEH2A G>T	19	12924296	12924296	G	T	RNASEH2A	c.*16G>T	NM_006397.3	NP_006388.2:p.?	NC_000019.9:g.12924296G>T	VUS	1 lab	e2d0e8b3b5
11:58892090 FAM111B C>T	11	58892090	58892090	C	T	FAM111B	c.520C>T	NM_198947.3	NP_945185.1:p.(Arg174Cys)	NC_000011.9:g.58892090C>T	VUS	1 lab	11bbfa0e9a
9:139401008 NOTCH1 C>T	9	139401008	139401008	C	T	NOTCH1	c.3985G>A	NM_017617.5	NP_060087.3:p.(Ala1329Thr)	NC_000009.11:g.139401008C>T	VUS	1 lab	11bc30a7c2
1:237777763 RYR2 A>G	1	237777763	237777763	A	G	RYR2	c.5335A>G	NM_001035.2	NP_001026.2:p.(Ser1779Gly)	NC_000001.10:g.237777763A>G	(Likely) pathogenic	1 lab	11bd112182
22:19751682 TBX1 G>A	22	19751682	19751682	G	A	TBX1	c.517G>A	NM_080647.1	NP_542378.1:p.(Ala173Thr)	NC_000022.10:g.19751682G>A	VUS	1 lab	e2d1de7548
22:38130420 TRIOBP T>C	22	38130420	38130420	T	C	TRIOBP	c.4077T>C	NM_001039141.2	NP_001034230.1:p.(Pro1359=)	NC_000022.10:g.38130420T>C	(Likely) benign	1 lab	11bd9090b2
4:126238466 FAT4 T>A	4	126238466	126238466	T	A	FAT4	c.900T>A	NM_001291303.1	NP_001278232.1:p.(Pro300=)	NC_000004.11:g.126238466T>A	(Likely) benign	1 lab	11bdc4c9c3
5:39341653 C9 A>G	5	39341653	39341653	A	G	C9	c.328+5T>C	NM_001737.3	NP_001728.1:p.?	NC_000005.9:g.39341653A>G	(Likely) benign	1 lab	11bdce1185
20:8862338 PLCB1 G>A	20	8862338	8862338	G	A	PLCB1	c.3493G>A	NM_015192.4	NP_056007.1:p.(Val1165Met)	NC_000020.10:g.8862338G>A	VUS	1 lab	11bdedcb57
13:110819508 COL4A1 G>C	13	110819508	110819508	G	C	COL4A1	c.3946C>G	NM_001845.5	NP_001836.3:p.(Gln1316Glu)	NC_000013.10:g.110819508G>C	VUS	1 lab	11bfaf0fcd
17:18024935 MYO15A T>C	17	18024935	18024935	T	C	MYO15A	c.2821T>C	NM_016239.3	NP_057323.3:p.(Ser941Pro)	NC_000017.10:g.18024935T>C	VUS	1 lab	11c1c0b17e
17:39023394 KRT12 G>A	17	39023394	39023394	G	A	KRT12	c.45C>T	NM_000223.4	NP_000214.1:p.(Pro15=)	NC_000017.10:g.39023394G>A	(Likely) benign	1 lab	11c21978b7
17:29653179 NF1 T>A	17	29653179	29653179	T	A	NF1	c.5114T>A	NM_000267.3	NP_000258.1:p.(Leu1705Gln)	NC_000017.10:g.29653179T>A	(Likely) pathogenic	1 lab	11c2a642c4
11:118922842 HYOU1 C>T	11	118922842	118922842	C	T	HYOU1	c.1165G>A	NM_006389.5	NP_006380.1:p.(Val389Ile)	NC_000011.9:g.118922842C>T	VUS	1 lab	11c6da9e0f
15:67073682 SMAD6 T>TGTG	15	67073682	67073683	T	TGTG	SMAD6	c.1300_1301insGTG	NM_005585.5	NP_005576.3:p.(Tyr434delinsCysAsp)	NC_000015.9:g.67073682_67073683insGTG	VUS	1 lab	e2d3f413b7
12:7310182 CLSTN3 C>T	12	7310182	7310182	C	T	CLSTN3	c.2625C>T	NM_014718.3	NP_055533.2:p.(Arg875=)	NC_000012.11:g.7310182C>T	(Likely) benign	1 lab	11c7b3f7da
X:17121888 REPS2 C>T	X	17121888	17121888	C	T	REPS2	c.1564C>T	NM_004726.2	NP_004717.2:p.(Pro522Ser)	NC_000023.10:g.17121888C>T	VUS	1 lab	11c90b2c94
5:41181540 C6 A>C	5	41181540	41181540	A	C	C6	c.848T>G	NM_001115131.2	NP_001108603.2:p.(Ile283Ser)	NC_000005.9:g.41181540A>C	VUS	1 lab	11c99e4e5e
15:42156001 SPTBN5 A>G	15	42156001	42156001	A	G	SPTBN5	c.7050T>C	NM_016642.4	NP_057726.4:p.(His2350=)	NC_000015.9:g.42156001A>G	(Likely) benign	1 lab	11cb8ad13b
11:2188714 TH C>T	11	2188714	2188714	C	T	TH	c.739G>A	NM_199292.2	NP_954986.2:p.(Gly247Ser)	NC_000011.9:g.2188714C>T	VUS	1 lab	11cb9cdad0
15:89876498 POLG G>A	15	89876498	89876498	G	A	POLG	c.488C>T	NM_002693.2	NP_002684.1:p.(Pro163Leu)	NC_000015.9:g.89876498G>A	VUS	1 lab	11cbaac271
3:10417162 ATP2B2 G>T	3	10417162	10417162	G	T	ATP2B2	c.1233C>A	NM_001330611.2	NP_001317540.1:p.(Pro411=)	NC_000003.11:g.10417162G>T	(Likely) benign	1 lab	11ccfd763d
19:33878810 PEPD G>A	19	33878810	33878810	G	A	PEPD	c.1330C>T	NM_000285.3	NP_000276.2:p.(Arg444Cys)	NC_000019.9:g.33878810G>A	VUS	1 lab	11ce59bddb
2:112687110 MERTK T>A	2	112687110	112687110	T	A	MERTK	c.475T>A	NM_006343.2	NP_006334.2:p.(Ser159Thr)	NC_000002.11:g.112687110T>A	(Likely) benign	1 lab	11cfe22dd0
20:30408207 MYLK2 C>T	20	30408207	30408207	C	T	MYLK2	c.331C>T	NM_033118.3	NP_149109.1:p.(Pro111Ser)	NC_000020.10:g.30408207C>T	(Likely) benign	1 lab	11d1ecd848
X:129283525 AIFM1 C>T	X	129283525	129283525	C	T	AIFM1	c.268G>A	NM_001130847.3	NP_001124319.1:p.(Glu90Lys)	NC_000023.10:g.129283525C>T	VUS	1 lab	11d25464c6
1:57406582 C8B C>T	1	57406582	57406582	C	T	C8B	c.1182G>A	NM_001278543.1	NP_001265472.1:p.(Ala394=)	NC_000001.10:g.57406582C>T	(Likely) benign	1 lab	11d257a698
20:62324316 RTEL1 C>T	20	62324316	62324316	C	T	RTEL1	c.2811C>T	NM_001283009.1	NP_001269938.1:p.(Pro937=)	NC_000020.10:g.62324316C>T	(Likely) benign	1 lab	11d36a1843
6:143094568 HIVEP2 A>G	6	143094568	143094568	A	G	HIVEP2	c.1308T>C	NM_006734.3	NP_006725.3:p.(Asn436=)	NC_000006.11:g.143094568A>G	(Likely) benign	1 lab	11d4af8783
1:171605725 MYOC C>A	1	171605725	171605725	C	A	MYOC	c.855G>T	NM_000261.1	NP_000252.1:p.(Thr285=)	NC_000001.10:g.171605725C>A	(Likely) benign	1 lab	11d4c38759
15:85326955 ZNF592 G>A	15	85326955	85326955	G	A	ZNF592	c.1049G>A	NM_014630.2	NP_055445.2:p.(Arg350His)	NC_000015.9:g.85326955G>A	(Likely) benign	1 lab	11d5085edc
17:29527501 NF1 CAG>C	17	29527501	29527504	CAG	C	NF1	c.952_953del	NM_001042492.3	NP_001035957.1:p.(Glu318LysfsTer11)	NC_000017.10:g.29527503_29527504del	(Likely) pathogenic	1 lab	11d6e47dbf
17:2583617 PAFAH1B1 A>T	17	2583617	2583617	A	T	PAFAH1B1	c.1159+3A>T	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2583617A>T	(Likely) pathogenic	1 lab	11d7f1c39d
17:18045568 MYO15A G>C	17	18045568	18045568	G	C	MYO15A	c.5825G>C	NM_016239.3	NP_057323.3:p.(Arg1942Thr)	NC_000017.10:g.18045568G>C	VUS	1 lab	11da20eb09
20:13983008 MACROD2 C>T	20	13983008	13983008	C	T	MACROD2	c.121C>T	NM_080676.5	NP_542407.2:p.(Leu41=)	NC_000020.10:g.13983008C>T	(Likely) benign	1 lab	11da4e281f
14:61115746 SIX1 C>T	14	61115746	61115746	C	T	SIX1	c.162G>A	NM_005982.3	NP_005973.1:p.(Ala54=)	NC_000014.8:g.61115746C>T	(Likely) benign	1 lab	11db5d658a
16:89715801 CHMP1A G>A	16	89715801	89715801	G	A	CHMP1A	c.190C>T	NM_001083314.3	NP_001076783.1:p.(Arg64Cys)	NC_000016.9:g.89715801G>A	(Likely) benign	1 lab	11dca20a8c
2:233386104 PRSS56 G>A	2	233386104	233386104	G	A	PRSS56	c.171G>A	NM_001195129.1	NP_001182058.1:p.(Ala57=)	NC_000002.11:g.233386104G>A	(Likely) benign	1 lab	11dd3b2c05
2:26698880 OTOF G>A	2	26698880	26698880	G	A	OTOF	c.2893C>T	NM_194248.2	NP_919224.1:p.(His965Tyr)	NC_000002.11:g.26698880G>A	VUS	1 lab	11e3cc2ff6
2:121736159 GLI2 G>A	2	121736159	121736159	G	A	GLI2	c.1518G>A	NM_005270.4	NP_005261.2:p.(Thr506=)	NC_000002.11:g.121736159G>A	VUS	1 lab	11e3e29d3c
X:153171506 AVPR2 C>T	X	153171506	153171506	C	T	AVPR2	c.546C>T	NM_001146151.2	NP_001139623.1:p.(Asn182=)	NC_000023.10:g.153171506C>T	(Likely) benign	1 lab	11e6c93dc4
5:169474589 DOCK2 T>C	5	169474589	169474589	T	C	DOCK2	c.4042T>C	NM_004946.3	NP_004937.1:p.(Tyr1348His)	NC_000005.9:g.169474589T>C	VUS	1 lab	11e878bfcd
18:43519659 EPG5 C>T	18	43519659	43519659	C	T	EPG5	c.2006G>A	NM_020964.3	NP_066015.2:p.(Gly669Glu)	NC_000018.9:g.43519659C>T	(Likely) benign	1 lab	11ec39c78a
6:7583028 DSP G>T	6	7583028	7583028	G	T	DSP	c.5533G>T	NM_004415.2	NP_004406.2:p.(Ala1845Ser)	NC_000006.11:g.7583028G>T	(Likely) benign	1 lab	11ececb97e
18:21494725 LAMA3 C>T	18	21494725	21494725	C	T	LAMA3	c.7545C>T	NM_198129.2	NP_937762.2:p.(Pro2515=)	NC_000018.9:g.21494725C>T	(Likely) benign	1 lab	11ee09e0d6
16:50818367 CYLD G>A	16	50818367	50818367	G	A	CYLD	c.1949+5G>A	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50818367G>A	VUS	1 lab	11ef1ff26c
8:120805621 TAF2 C>T	8	120805621	120805621	C	T	TAF2	c.1262G>A	NM_003184.3	NP_003175.1:p.(Gly421Glu)	NC_000008.10:g.120805621C>T	(Likely) benign	1 lab	11f2572ba7
2:179443387 TTN T>G	2	179443387	179443387	T	G	TTN	c.68280A>C	NM_001267550.1	NP_001254479.1:p.(Val22760=)	NC_000002.11:g.179443387T>G	(Likely) benign	1 lab	11f34f54dd
5:58286737 PDE4D GA>G	5	58286737	58286750	GA	G	PDE4D	c.1189-9del	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58286750del	(Likely) benign	1 lab	11f4e56178
9:135782124 TSC1 C>CT	9	135782124	135782127	C	CT	TSC1	c.1431dup	NM_000368.4	NP_000359.1:p.(Glu478ArgfsTer7)	NC_000009.11:g.135782127dup	(Likely) pathogenic	1 lab	11f50980bb
14:64608803 SYNE2 C>G	14	64608803	64608803	C	G	SYNE2	c.15303C>G	NM_182914.2	NP_878918.2:p.(His5101Gln)	NC_000014.8:g.64608803C>G	(Likely) benign	1 lab	11f69be7c1
1:43205585 CLDN19 G>C	1	43205585	43205585	G	C	CLDN19	c.150C>G	NM_001123395.1	NP_001116867.1:p.(Leu50=)	NC_000001.10:g.43205585G>C	(Likely) benign	1 lab	11f78a4748
X:47004011 NDUFB11 G>A	X	47004011	47004011	G	A	NDUFB11	c.68C>T	NM_019056.6	NP_061929.2:p.(Pro23Leu)	NC_000023.10:g.47004011G>A	(Likely) benign	1 lab	11f7df0d5c
6:56470690 DST G>A	6	56470690	56470690	G	A	DST	c.5184+4535C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56470690G>A	(Likely) benign	1 lab	e2d5d23e31
4:139966509 NOCT G>A	4	139966509	139966509	G	A	NOCT	c.1177G>A	NM_012118.4	NP_036250.2:p.(Asp393Asn)	NC_000004.11:g.139966509G>A	(Likely) benign	1 lab	11fab8d022
17:29508778 NF1 C>G	17	29508778	29508778	C	G	NF1	c.705C>G	NM_000267.3	NP_000258.1:p.(Tyr235Ter)	NC_000017.10:g.29508778C>G	(Likely) pathogenic	1 lab	11fcfec4e0
6:51923147 PKHD1 G>A	6	51923147	51923147	G	A	PKHD1	c.1486C>T	NM_138694.4	NP_619639.3:p.(Arg496Ter)	NC_000006.11:g.51923147G>A	(Likely) pathogenic	1 lab	e2da615759
2:44132917 LRPPRC G>A	2	44132917	44132917	G	A	LRPPRC	c.3278C>T	NM_133259.3	NP_573566.2:p.(Ala1093Val)	NC_000002.11:g.44132917G>A	VUS	1 lab	11fdf616e6
17:29652987 NF1 GGT>AG	17	29652987	29652989	GGT	AG	NF1	c.4922_4924delinsAG	NM_000267.3	NP_000258.1:p.(Trp1641Ter)	NC_000017.10:g.29652987_29652989delinsAG	(Likely) pathogenic	1 lab	11feb13f67
9:36840613 PAX5 C>T	9	36840613	36840613	C	T	PAX5	c.1120G>A	NM_016734.2	NP_057953.1:p.(Ala374Thr)	NC_000009.11:g.36840613C>T	VUS	1 lab	11ff8da09a
14:103438476 CDC42BPB C>T	14	103438476	103438476	C	T	CDC42BPB	c.1664G>A	NM_006035.4	NP_006026.3:p.(Arg555Gln)	NC_000014.8:g.103438476C>T	VUS	1 lab	e2dae402be
2:136626323 MCM6 C>T	2	136626323	136626323	C	T	MCM6	c.473G>A	NM_005915.5	NP_005906.2:p.(Cys158Tyr)	NC_000002.11:g.136626323C>T	VUS	1 lab	1202ee62e4
9:135782127 TSC1 T>A	9	135782127	135782127	T	A	TSC1	c.1429A>T	NM_000368.4	NP_000359.1:p.(Lys477Ter)	NC_000009.11:g.135782127T>A	(Likely) pathogenic	1 lab	1203994ff2
16:24226083 PRKCB C>T	16	24226083	24226083	C	T	PRKCB	c.1968C>T	NM_002738.6	NP_002729.2:p.(Phe656=)	NC_000016.9:g.24226083C>T	(Likely) benign	1 lab	1205bb0180
17:80897320 TBCD C>T	17	80897320	80897320	C	T	TBCD	c.3447C>T	NM_005993.4	NP_005984.3:p.(Asp1149=)	NC_000017.10:g.80897320C>T	(Likely) benign	1 lab	120618c8a6
5:169230145 DOCK2 C>A	5	169230145	169230145	C	A	DOCK2	c.2638C>A	NM_004946.3	NP_004937.1:p.(Leu880Met)	NC_000005.9:g.169230145C>A	(Likely) benign	1 lab	1206825452
1:94485275 ABCA4 TCACGCAGATGGCAAC>T	1	94485275	94485293	TCACGCAGATGGCAAC	T	ABCA4	c.5044_5058del	NM_000350.3	NP_000341.2:p.(Val1682_Val1686del)	NC_000001.10:g.94485279_94485293del	VUS	1 lab	1206d560e6
X:15582328 ACE2 G>A	X	15582328	15582328	G	A	ACE2	c.2128C>T	NM_021804.2	NP_068576.1:p.(Arg710Cys)	NC_000023.10:g.15582328G>A	VUS	1 lab	12086b1203
15:28000551 OCA2 C>T	15	28000551	28000551	C	T	OCA2	c.2500G>A	NM_000275.2	NP_000266.2:p.(Val834Met)	NC_000015.9:g.28000551C>T	(Likely) benign	1 lab	1208e6b89b
1:207500166 CD55 G>A	1	207500166	207500166	G	A	CD55	c.648G>A	NM_001114752.2	NP_001108224.1:p.(Pro216=)	NC_000001.10:g.207500166G>A	(Likely) benign	1 lab	1209631808
17:29528506 NF1 A>C	17	29528506	29528506	A	C	NF1	c.1260+3A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528506A>C	(Likely) pathogenic	1 lab	120d213a66
2:31754488 SRD5A2 C>T	2	31754488	31754488	C	T	SRD5A2	c.587G>A	NM_000348.3	NP_000339.2:p.(Gly196Asp)	NC_000002.11:g.31754488C>T	(Likely) pathogenic	1 lab	120d481aaf
1:152284212 FLG C>T	1	152284212	152284212	C	T	FLG	c.3150G>A	NM_002016.1	NP_002007.1:p.(Pro1050=)	NC_000001.10:g.152284212C>T	(Likely) benign	1 lab	120d50a49b
3:143371088 SLC9A9 G>C	3	143371088	143371088	G	C	SLC9A9	c.755+9C>G	NM_173653.3	NP_775924.1:p.?	NC_000003.11:g.143371088G>C	(Likely) benign	1 lab	120d60b6b0
10:69966539 MYPN C>T	10	69966539	69966539	C	T	MYPN	c.3672C>T	NM_032578.3	NP_115967.2:p.(Asp1224=)	NC_000010.10:g.69966539C>T	(Likely) benign	1 lab	120faa3cb0
5:92929481 NR2F1 T>C	5	92929481	92929481	T	C	NR2F1	c.1205T>C	NM_005654.6	NP_005645.1:p.(Leu402Pro)	NC_000005.9:g.92929481T>C	VUS	1 lab	e2db453984
17:5271746 RABEP1 G>A	17	5271746	5271746	G	A	RABEP1	c.1867G>A	NM_004703.6	NP_004694.2:p.(Asp623Asn)	NC_000017.10:g.5271746G>A	(Likely) benign	1 lab	1213467f6c
10:69954112 MYPN C>T	10	69954112	69954112	C	T	MYPN	c.2926-8C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69954112C>T	(Likely) benign	1 lab	1216db3cf4
16:2112521 TSC2 C>G	16	2112521	2112521	C	G	TSC2	c.1281C>G	NM_000548.3	NP_000539.2:p.(Ile427Met)	NC_000016.9:g.2112521C>G	VUS	1 lab	121776a2ad
X:119509335 ATP1B4 G>A	X	119509335	119509335	G	A	ATP1B4	c.659G>A	NM_012069.4	NP_036201.1:p.(Arg220His)	NC_000023.10:g.119509335G>A	VUS	1 lab	12184f88b7
2:179486462 TTN T>G	2	179486462	179486462	T	G	TTN	c.45089A>C	NM_001267550.2	NP_001254479.2:p.(Glu15030Ala)	NC_000002.11:g.179486462T>G	VUS	1 lab	e2dbc682cf
2:55906936 PNPT1 A>G	2	55906936	55906936	A	G	PNPT1	c.566-6T>C	NM_033109.4	NP_149100.2:p.?	NC_000002.11:g.55906936A>G	(Likely) benign	1 lab	1218d52e18
1:235634233 B3GALNT2 G>A	1	235634233	235634233	G	A	B3GALNT2	c.693C>T	NM_152490.4	NP_689703.1:p.(His231=)	NC_000001.10:g.235634233G>A	(Likely) benign	1 lab	121aa0ed7a
2:179472266 TTN G>A	2	179472266	179472266	G	A	TTN	c.53149C>T	NM_001267550.1	NP_001254479.1:p.(Arg17717Cys)	NC_000002.11:g.179472266G>A	VUS	1 lab	121b25eadc
1:228345861 GJC2 C>G	1	228345861	228345861	C	G	GJC2	c.402C>G	NM_020435.3	NP_065168.2:p.(Gly134=)	NC_000001.10:g.228345861C>G	(Likely) benign	1 lab	121caea486
12:22035737 ABCC9 C>T	12	22035737	22035737	C	T	ABCC9	c.1982G>A	NM_005691.4	NP_005682.2:p.(Arg661His)	NC_000012.11:g.22035737C>T	VUS	1 lab	e2dcbe5ba7
20:42788896 JPH2 C>T	20	42788896	42788896	C	T	JPH2	c.531G>A	NM_020433.4	NP_065166.2:p.(Pro177=)	NC_000020.10:g.42788896C>T	(Likely) benign	1 lab	121d2da7bf
15:100821564 ADAMTS17 C>T	15	100821564	100821564	C	T	ADAMTS17	c.659G>A	NM_139057.3	NP_620688.2:p.(Arg220Gln)	NC_000015.9:g.100821564C>T	VUS	1 lab	1222099b40
1:12337883 VPS13D G>A	1	12337883	12337883	G	A	VPS13D	c.4238G>A	NM_015378.4	NP_056193.2:p.(Gly1413Glu)	NC_000001.10:g.12337883G>A	VUS	1 lab	1223a61092
7:138602079 KIAA1549 C>T	7	138602079	138602079	C	T	KIAA1549	c.2293G>A	NM_001164665.1	NP_001158137.1:p.(Ala765Thr)	NC_000007.13:g.138602079C>T	VUS	1 lab	1224b832d2
1:198721370 PTPRC T>C	1	198721370	198721370	T	C	PTPRC	c.3208-8T>C	NM_002838.4	NP_002829.3:p.?	NC_000001.10:g.198721370T>C	(Likely) benign	1 lab	1224e6e596
20:62298845 RTEL1 G>A	20	62298845	62298845	G	A	RTEL1	c.638G>A	NM_001283009.1	NP_001269938.1:p.(Arg213Gln)	NC_000020.10:g.62298845G>A	VUS	1 lab	1227020600
6:43111325 PTK7 G>T	6	43111325	43111325	G	T	PTK7	c.2218G>T	NM_002821.5	NP_002812.2:p.(Glu740Ter)	NC_000006.11:g.43111325G>T	VUS	1 lab	12272dcbd2
9:137630371 COL5A1 C>T	9	137630371	137630371	C	T	COL5A1	c.1431+10C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137630371C>T	(Likely) benign	1 lab	1227d9e582
1:185946916 HMCN1 C>T	1	185946916	185946916	C	T	HMCN1	c.2372-3C>T	NM_031935.2	NP_114141.2:p.?	NC_000001.10:g.185946916C>T	(Likely) benign	1 lab	122814fffa
1:100356777 AGL T>G	1	100356777	100356777	T	G	AGL	c.2814T>G	NM_000028.2	NP_000019.2:p.(Gly938=)	NC_000001.10:g.100356777T>G	(Likely) benign	1 lab	122aaab54e
21:19775858 TMPRSS15 A>G	21	19775858	19775858	A	G	TMPRSS15	c.82T>C	NM_002772.2	NP_002763.2:p.(Leu28=)	NC_000021.8:g.19775858A>G	(Likely) benign	1 lab	122ba01107
2:21263920 APOB G>A	2	21263920	21263920	G	A	APOB	c.273C>T	NM_000384.2	NP_000375.2:p.(Ile91=)	NC_000002.11:g.21263920G>A	(Likely) benign	1 lab	122bb151fd
11:6637518 TPP1 A>G	11	6637518	6637518	A	G	TPP1	c.1075+28T>C	NM_000391.3	NP_000382.3:p.?	NC_000011.9:g.6637518A>G	(Likely) benign	1 lab	376e54c5ef
19:42795472 CIC C>T	19	42795472	42795472	C	T	CIC	c.5279C>T	NM_001304815.1	NP_001291744.1:p.(Ala1760Val)	NC_000019.9:g.42795472C>T	(Likely) benign	1 lab	122e67127b
1:41296870 KCNQ4 G>C	1	41296870	41296870	G	C	KCNQ4	c.1407G>C	NM_004700.3	NP_004691.2:p.(Gln469His)	NC_000001.10:g.41296870G>C	VUS	1 lab	122ee6fe2e
10:13154485 OPTN C>A	10	13154485	13154485	C	A	OPTN	c.402C>A	NM_001008211.1	NP_001008212.1:p.(Ala134=)	NC_000010.10:g.13154485C>A	(Likely) benign	1 lab	122ff0ac8a
1:7723909 CAMTA1 C>T	1	7723909	7723909	C	T	CAMTA1	c.1302C>T	NM_015215.3	NP_056030.1:p.(Ala434=)	NC_000001.10:g.7723909C>T	(Likely) benign	1 lab	12305cd16d
4:3502471 DOK7 G>A	4	3502471	3502471	G	A	DOK7	c.1746G>A	NM_001301071.1	NP_001288000.1:p.(Ala582=)	NC_000004.11:g.3502471G>A	(Likely) benign	1 lab	12309a1798
X:102968544 TMEM31 C>T	X	102968544	102968544	C	T	TMEM31	c.125C>T	NM_182541.2	NP_872347.2:p.(Thr42Ile)	NC_000023.10:g.102968544C>T	(Likely) benign	1 lab	123436af5c
19:41025739 SPTBN4 G>T	19	41025739	41025739	G	T	SPTBN4	c.3335G>T	NM_020971.2	NP_066022.2:p.(Gly1112Val)	NC_000019.9:g.41025739G>T	VUS	1 lab	1235c2e607
7:103202183 RELN G>C	7	103202183	103202183	G	C	RELN	c.5352-27C>G	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103202183G>C	VUS	1 lab	1236d9b7fc
2:71576821 ZNF638 A>G	2	71576821	71576821	A	G	ZNF638	c.737A>G	NM_001252612.1	NP_001239541.1:p.(Gln246Arg)	NC_000002.11:g.71576821A>G	(Likely) benign	1 lab	1238ec26ee
12:123041992 KNTC1 C>T	12	123041992	123041992	C	T	KNTC1	c.1334C>T	NM_014708.5	NP_055523.1:p.(Ala445Val)	NC_000012.11:g.123041992C>T	VUS	1 lab	1239db595b
12:66935615 GRIP1 C>A	12	66935615	66935615	C	A	GRIP1	c.252G>T	NM_001366722.1	NP_001353651.1:p.(Arg84=)	NC_000012.11:g.66935615C>A	(Likely) benign	1 lab	123d116851
4:651178 PDE6B C>T	4	651178	651178	C	T	PDE6B	c.1296C>T	NM_000283.3	NP_000274.2:p.(Thr432=)	NC_000004.11:g.651178C>T	(Likely) benign	1 lab	123d817ccb
8:37823171 ADRB3 G>A	8	37823171	37823171	G	A	ADRB3	c.817C>T	NM_000025.2	NP_000016.1:p.(Pro273Ser)	NC_000008.10:g.37823171G>A	(Likely) benign	1 lab	123fc970c1
19:37038606 ZNF529 G>A	19	37038606	37038606	G	A	ZNF529	c.539C>T	NM_001352272.1	NP_001339201.1:p.(Ser180Leu)	NC_000019.9:g.37038606G>A	(Likely) benign	1 lab	124071e2f4
16:88500636 ZNF469 C>T	16	88500636	88500636	C	T	ZNF469				NC_000016.9:g.88500636C>T	(Likely) benign	1 lab	124315f69c
3:14200205 XPC C>T	3	14200205	14200205	C	T	XPC	c.1178G>A	NM_004628.4	NP_004619.3:p.(Arg393Gln)	NC_000003.11:g.14200205C>T	(Likely) benign	1 lab	124495d5e0
1:158627472 SPTA1 G>T	1	158627472	158627472	G	T	SPTA1	c.2600C>A	NM_003126.3	NP_003117.2:p.(Ala867Glu)	NC_000001.10:g.158627472G>T	VUS	1 lab	1247b36e3f
10:94297302 IDE T>C	10	94297302	94297302	T	C	IDE	c.104A>G	NM_001322793.1	NP_001309722.1:p.(Gln35Arg)	NC_000010.10:g.94297302T>C	(Likely) benign	1 lab	1249115904
21:43897401 RSPH1 T>C	21	43897401	43897401	T	C	RSPH1	c.727A>G	NM_080860.3	NP_543136.1:p.(Ser243Gly)	NC_000021.8:g.43897401T>C	VUS	1 lab	124af634e2
6:76564921 MYO6 G>A	6	76564921	76564921	G	A	MYO6	c.1144G>A	NM_004999.3	NP_004990.3:p.(Asp382Asn)	NC_000006.11:g.76564921G>A	(Likely) benign	1 lab	124b8e5df5
1:94481334 ABCA4 T>C	1	94481334	94481334	T	C	ABCA4	c.5273A>G	NM_000350.2	NP_000341.2:p.(Glu1758Gly)	NC_000001.10:g.94481334T>C	(Likely) benign	1 lab	124c7e9a04
6:152776638 SYNE1 A>G	6	152776638	152776638	A	G	SYNE1	c.2815T>C	NM_182961.3	NP_892006.3:p.(Leu939=)	NC_000006.11:g.152776638A>G	(Likely) benign	1 lab	124d51551c
20:62319116 RTEL1 A>T	20	62319116	62319116	A	T	RTEL1	c.1474A>T	NM_001283009.1	NP_001269938.1:p.(Met492Leu)	NC_000020.10:g.62319116A>T	VUS	1 lab	124eb19d8b
9:137582835 COL5A1 G>A	9	137582835	137582835	G	A	COL5A1	c.187G>A	NM_000093.4	NP_000084.3:p.(Ala63Thr)	NC_000009.11:g.137582835G>A	(Likely) benign	1 lab	124fee5878
12:109017408 SELPLG T>G	12	109017408	109017408	T	G	SELPLG	c.724A>C	NM_001206609.1	NP_001193538.1:p.(Thr242Pro)	NC_000012.11:g.109017408T>G	(Likely) benign	1 lab	125100ab0a
2:228563869 SLC19A3 G>C	2	228563869	228563869	G	C	SLC19A3	c.562C>G	NM_025243.3	NP_079519.1:p.(Leu188Val)	NC_000002.11:g.228563869G>C	VUS	1 lab	1251879737
4:862399 GAK G>C	4	862399	862399	G	C	GAK	c.2323C>G	NM_005255.4	NP_005246.2:p.(Pro775Ala)	NC_000004.11:g.862399G>C	(Likely) benign	1 lab	12524ce1f3
5:94852617 SKIC3 T>C	5	94852617	94852617	T	C	SKIC3	c.2436+3A>G	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94852617T>C	VUS	1 lab	1254b1a5d6
7:5770344 RNF216 G>A	7	5770344	5770344	G	A	RNF216	c.1224+2C>T	NM_207111.3	NP_996994.1:p.?	NC_000007.13:g.5770344G>A	VUS	1 lab	12552ccaea
1:180794295 XPR1 T>C	1	180794295	180794295	T	C	XPR1	c.955-6T>C	NM_004736.3	NP_004727.2:p.?	NC_000001.10:g.180794295T>C	(Likely) benign	1 lab	1255d9d914
1:17555288 PADI1 C>CG	1	17555288	17555293	C	CG	PADI1	c.825+1dup	NM_013358.3	NP_037490.2:p.?	NC_000001.10:g.17555293dup	VUS	1 lab	1256a6d004
17:33768315 SLFN13 T>C	17	33768315	33768315	T	C	SLFN13	c.1993A>G	NM_144682.6	NP_653283.3:p.(Ile665Val)	NC_000017.10:g.33768315T>C	(Likely) benign	1 lab	12571fe5c2
14:88401124 GALC GGAGT>G	14	88401124	88401132	GGAGT	G	GALC	c.2006_2009del	NM_000153.4	NP_000144.2:p.(His669ProfsTer19)	NC_000014.8:g.88401129_88401132del	(Likely) pathogenic	1 lab	1257408f0e
22:51153374 MISSING G>A	22	51153374	51153374	G	A	MISSING				NC_000022.10:g.51153374G>A	(Likely) benign	1 lab	12576536fb
5:37245582 CPLANE1 G>A	5	37245582	37245582	G	A	CPLANE1	c.336C>T	NM_023073.3	NP_075561.3:p.(Val112=)	NC_000005.9:g.37245582G>A	(Likely) benign	1 lab	12580d6657
X:72783214 CHIC1 C>CCGT	X	72783214	72783231	C	CCGT	CHIC1	c.109_111dup	NM_001039840.3	NP_001034929.2:p.(Ser37dup)	NC_000023.10:g.72783229_72783231dup	VUS	1 lab	12588a8a85
11:6816149 OR6A2 T>C	11	6816149	6816149	T	C	OR6A2	c.791A>G	NM_003696.2	NP_003687.2:p.(Tyr264Cys)	NC_000011.9:g.6816149T>C	VUS	1 lab	125a96aa71
20:61982176 CHRNA4 C>G	20	61982176	61982176	C	G	CHRNA4	c.587G>C	NM_000744.6	NP_000735.1:p.(Ser196Thr)	NC_000020.10:g.61982176C>G	(Likely) benign	1 lab	125b17601a
15:48779286 FBN1 C>T	15	48779286	48779286	C	T	FBN1	c.3575G>A	NM_000138.4	NP_000129.3:p.(Arg1192Lys)	NC_000015.9:g.48779286C>T	(Likely) benign	1 lab	125c1060e6
17:39742718 KRT14 A>G	17	39742718	39742718	A	G	KRT14	c.369T>C	NM_000526.5	NP_000517.3:p.(Asn123=)	NC_000017.10:g.39742718A>G	(Likely) benign	1 lab	e2dee91f1b
8:90958519 NBN T>C	8	90958519	90958519	T	C	NBN	c.1919A>G	NM_002485.4	NP_002476.2:p.(Asn640Ser)	NC_000008.10:g.90958519T>C	(Likely) benign	1 lab	125dae5073
5:37044841 NIPBL A>G	5	37044841	37044841	A	G	NIPBL	c.6343+10A>G	NM_015384.4	NP_056199.2:p.?	NC_000005.9:g.37044841A>G	(Likely) benign	1 lab	125f3e1a84
20:32378865 ZNF341 C>T	20	32378865	32378865	C	T	ZNF341	c.2107C>T	NM_001282933.1	NP_001269862.1:p.(Arg703Cys)	NC_000020.10:g.32378865C>T	VUS	1 lab	125fdc3c91
11:76891513 MYO7A G>A	11	76891513	76891513	G	A	MYO7A	c.2680G>A	NM_000260.3	NP_000251.3:p.(Glu894Lys)	NC_000011.9:g.76891513G>A	VUS	1 lab	1262b83007
16:2550333 TBC1D24 C>T	16	2550333	2550333	C	T	TBC1D24	c.1367C>T	NM_001199107.1	NP_001186036.1:p.(Pro456Leu)	NC_000016.9:g.2550333C>T	(Likely) benign	1 lab	12639be6a4
8:140630618 KCNK9 C>T	8	140630618	140630618	C	T	KCNK9	c.1008G>A	NM_001282534.1	NP_001269463.1:p.(Glu336=)	NC_000008.10:g.140630618C>T	(Likely) benign	1 lab	126458eeb1
10:46329530 AGAP4 A>G	10	46329530	46329530	A	G	AGAP4	c.107T>C	NM_001291379.1	NP_001278308.1:p.(Leu36Ser)	NC_000010.10:g.46329530A>G	(Likely) benign	1 lab	126586a877
7:100646226 MUC12 C>T	7	100646226	100646226	C	T	MUC12	c.12382C>T	NM_001164462.1	NP_001157934.1:p.(Arg4128Cys)	NC_000007.13:g.100646226C>T	(Likely) benign	1 lab	1267f40f5f
17:17697541 RAI1 C>T	17	17697541	17697541	C	T	RAI1	c.1279C>T	NM_030665.3	NP_109590.3:p.(Leu427=)	NC_000017.10:g.17697541C>T	(Likely) benign	1 lab	12680999ff
5:37183766 CPLANE1 T>A	5	37183766	37183766	T	A	CPLANE1	c.4517A>T	NM_023073.3	NP_075561.3:p.(His1506Leu)	NC_000005.9:g.37183766T>A	(Likely) benign	1 lab	126902a28c
X:44970628 KDM6A C>T	X	44970628	44970628	C	T	KDM6A	c.4334C>T	NM_001291415.1	NP_001278344.1:p.(Ala1445Val)	NC_000023.10:g.44970628C>T	(Likely) benign	1 lab	1269211848
12:1036429 RAD52 C>T	12	1036429	1036429	C	T	RAD52	c.349G>A	NM_001297419.1	NP_001284348.1:p.(Asp117Asn)	NC_000012.11:g.1036429C>T	VUS	1 lab	12692e2326
12:57579347 LRP1 G>A	12	57579347	57579347	G	A	LRP1	c.6497G>A	NM_002332.2	NP_002323.2:p.(Cys2166Tyr)	NC_000012.11:g.57579347G>A	VUS	1 lab	1269cf8102
19:13318575 CACNA1A C>T	19	13318575	13318575	C	T	CACNA1A	c.7091G>A	NM_023035.2	NP_075461.2:p.(Gly2364Asp)	NC_000019.9:g.13318575C>T	VUS	1 lab	126a80f60d
6:135763833 AHI1 T>C	6	135763833	135763833	T	C	AHI1	c.1799A>G	NM_001134831.1	NP_001128303.1:p.(Lys600Arg)	NC_000006.11:g.135763833T>C	VUS	1 lab	126ab45c0b
12:123741545 MTRFR A>G	12	123741545	123741545	A	G	MTRFR	c.468A>G	NM_001194995.1	NP_001181924.1:p.(Lys156=)	NC_000012.11:g.123741545A>G	(Likely) benign	1 lab	126c02cf44
7:21940823 DNAH11 A>G	7	21940823	21940823	A	G	DNAH11				NC_000007.13:g.21940823A>G	(Likely) benign	1 lab	126d5f58c1
7:141352644 AGK G>A	7	141352644	141352644	G	A	AGK	c.1189G>A	NM_018238.4	NP_060708.1:p.(Val397Met)	NC_000007.13:g.141352644G>A	VUS	1 lab	126f1e1987
5:90015916 ADGRV1 T>G	5	90015916	90015916	T	G	ADGRV1	c.9499T>G	NM_032119.4	NP_115495.3:p.(Phe3167Val)	NC_000005.9:g.90015916T>G	VUS	1 lab	127d7437aa
X:38158278 RPGR C>G	X	38158278	38158278	C	G	RPGR	c.1176G>C	NM_001034853.1	NP_001030025.1:p.(Pro392=)	NC_000023.10:g.38158278C>G	(Likely) benign	1 lab	1270e9d83f
11:118360965 KMT2A G>A	11	118360965	118360965	G	A	KMT2A	c.4696+1G>A	NM_005933.3	NP_005924.2:p.?	NC_000011.9:g.118360965G>A	(Likely) pathogenic	1 lab	127372a730
20:3026350 GNRH2 CG>C	20	3026350	3026351	CG	C	GNRH2	c.311del	NM_178331.2	NP_847901.1:p.(Arg104ProfsTer?)	NC_000020.10:g.3026351del	VUS	1 lab	1274e0cfa6
3:37035118 MLH1 G>A	3	37035118	37035118	G	A	MLH1	c.80G>A	NM_000249.4	NP_000240.1:p.(Arg27Gln)	NC_000003.11:g.37035118G>A	VUS	1 lab	e2e01e9d75
X:18198717 BEND2 C>T	X	18198717	18198717	C	T	BEND2	c.1342G>A	NM_153346.4	NP_699177.2:p.(Val448Ile)	NC_000023.10:g.18198717C>T	(Likely) benign	1 lab	12776496fd
11:76873244 MYO7A G>A	11	76873244	76873244	G	A	MYO7A	c.1422G>A	NM_000260.3	NP_000251.3:p.(Gln474=)	NC_000011.9:g.76873244G>A	(Likely) benign	1 lab	127a1224ec
17:29687741 NF1 A>G	17	29687741	29687741	A	G	NF1	c.8314+20A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29687741A>G	(Likely) benign	1 lab	127a388ad6
X:153134148 L1CAM C>T	X	153134148	153134148	C	T	L1CAM	c.1414G>A	NM_001278116.1	NP_001265045.1:p.(Glu472Lys)	NC_000023.10:g.153134148C>T	VUS	1 lab	127a4d5242
X:49061735 CACNA1F C>T	X	49061735	49061735	C	T	CACNA1F	c.5796G>A	NM_005183.3	NP_005174.2:p.(Thr1932=)	NC_000023.10:g.49061735C>T	(Likely) benign	1 lab	127cabc429
11:118348824 KMT2A C>T	11	118348824	118348824	C	T	KMT2A	c.3477C>T	NM_001197104.1	NP_001184033.1:p.(Pro1159=)	NC_000011.9:g.118348824C>T	(Likely) benign	1 lab	127cbbedb6
10:72192847 NODAL G>C	10	72192847	72192847	G	C	NODAL	c.892-3C>G	NM_018055.4	NP_060525.3:p.?	NC_000010.10:g.72192847G>C	VUS	1 lab	127d267420
10:70748491 KIFBP GCA>AGT	10	70748491	70748493	GCA	AGT	KIFBP	c.-98_-96delinsAGT	NM_015634.3	NP_056449.1:p.?	NC_000010.10:g.70748491_70748493delinsAGT	VUS	1 lab	127d4d8c59
19:55668957 TNNI3 T>C	19	55668957	55668957	T	C	TNNI3	c.1A>G	NM_000363.4	NP_000354.4:p.(Met1?)	NC_000019.9:g.55668957T>C	(Likely) pathogenic	1 lab	127f5b1318
9:137655547 COL5A1 C>T	9	137655547	137655547	C	T	COL5A1	c.1998C>T	NM_000093.4	NP_000084.3:p.(Asp666=)	NC_000009.11:g.137655547C>T	(Likely) benign	1 lab	127fec626e
2:179500730 TTN G>A	2	179500730	179500730	G	A	TTN	c.41568C>T	NM_001267550.1	NP_001254479.1:p.(Asn13856=)	NC_000002.11:g.179500730G>A	(Likely) benign	1 lab	12804f084e
1:27101443 ARID1A A>G	1	27101443	27101443	A	G	ARID1A	c.4725A>G	NM_006015.4	NP_006006.3:p.(Pro1575=)	NC_000001.10:g.27101443A>G	(Likely) benign	1 lab	12846c4ff7
14:68268871 ZFYVE26 G>T	14	68268871	68268871	G	T	ZFYVE26	c.1564C>A	NM_015346.4	NP_056161.2:p.(Gln522Lys)	NC_000014.8:g.68268871G>T	VUS	1 lab	e2e0ea7dae
7:5781016 RNF216 T>C	7	5781016	5781016	T	C	RNF216	c.632A>G	NM_207111.3	NP_996994.1:p.(Asn211Ser)	NC_000007.13:g.5781016T>C	VUS	1 lab	1285832f28
5:141248240 PCDH1 A>G	5	141248240	141248240	A	G	PCDH1	c.797T>C	NM_032420.3	NP_115796.2:p.(Leu266Pro)	NC_000005.9:g.141248240A>G	VUS	1 lab	128681a0e9
18:77748701 TXNL4A G>C	18	77748701	77748701	G	C	TXNL4A				NC_000018.9:g.77748701G>C	(Likely) benign	1 lab	1286ca8fd1
16:4934080 PPL C>G	16	4934080	4934080	C	G	PPL	c.4576G>C	NM_002705.5	NP_002696.4:p.(Glu1526Gln)	NC_000016.9:g.4934080C>G	VUS	1 lab	1286f7063a
16:57938632 CNGB1 C>G	16	57938632	57938632	C	G	CNGB1	c.2634+6G>C	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57938632C>G	(Likely) benign	1 lab	128b2bf7f9
22:25019761 GGT1 C>T	22	25019761	25019761	C	T	GGT1	c.898C>T	NM_001288833.2	NP_001275762.1:p.(Arg300Trp)	NC_000022.10:g.25019761C>T	(Likely) benign	1 lab	128ba8f8df
22:30951246 GAL3ST1 G>A	22	30951246	30951246	G	A	GAL3ST1	c.966C>T	NM_001318106.1	NP_001305035.1:p.(Phe322=)	NC_000022.10:g.30951246G>A	(Likely) benign	1 lab	128bfcab97
X:135429480 ADGRG4 A>G	X	135429480	135429480	A	G	ADGRG4	c.3615A>G	NM_153834.3	NP_722576.3:p.(Thr1205=)	NC_000023.10:g.135429480A>G	(Likely) benign	1 lab	128c36c8f0
1:1635309 CDK11A AGAGGCTTCT>A	1	1635309	1635321	AGAGGCTTCT	A	CDK11A	c.1856_1864del	NM_024011.4	NP_076916.2:p.(Gln619_Pro621del)	NC_000001.10:g.1635313_1635321del	VUS	1 lab	128c5fd2d6
17:40376874 STAT5B G>A	17	40376874	40376874	G	A	STAT5B	c.298C>T	NM_012448.3	NP_036580.2:p.(Arg100Cys)	NC_000017.10:g.40376874G>A	VUS	1 lab	128cce89ae
14:24710965 TINF2 C>T	14	24710965	24710965	C	T	TINF2	c.315G>A	NM_012461.2	NP_036593.2:p.(Arg105=)	NC_000014.8:g.24710965C>T	(Likely) benign	1 lab	128dad951d
12:121678327 CAMKK2 C>CTT	12	121678327	121678340	C	CTT	CAMKK2	c.1613_1614dup	NM_001270486.1	NP_001257415.1:p.(Gly539LysfsTer6)	NC_000012.11:g.121678339_121678340dup	(Likely) benign	1 lab	128f0fc46d
18:6977871 LAMA1 G>A	18	6977871	6977871	G	A	LAMA1	c.6200C>T	NM_005559.3	NP_005550.2:p.(Ala2067Val)	NC_000018.9:g.6977871G>A	(Likely) benign	1 lab	128f96c777
16:2129163 TSC2 T>TA	16	2129163	2129164	T	TA	TSC2	c.3098dup	NM_000548.3	NP_000539.2:p.(Tyr1033Ter)	NC_000016.9:g.2129164dup	(Likely) pathogenic	1 lab	128fdf7bac
14:96797775 ATG2B T>C	14	96797775	96797775	T	C	ATG2B	c.1668A>G	NM_018036.6	NP_060506.5:p.(Ser556=)	NC_000014.8:g.96797775T>C	(Likely) benign	1 lab	128fe24ce7
9:136298562 ADAMTS13 G>A	9	136298562	136298562	G	A	ADAMTS13	c.1157G>A	NM_139025.4	NP_620594.1:p.(Arg386His)	NC_000009.11:g.136298562G>A	(Likely) benign	1 lab	1290c0db36
8:55371722 SOX17 C>T	8	55371722	55371722	C	T	SOX17	c.412C>T	NM_022454.3	NP_071899.1:p.(Arg138Trp)	NC_000008.10:g.55371722C>T	VUS	1 lab	12919d4a20
6:13616738 NOL7 C>T	6	13616738	13616738	C	T	NOL7	c.371C>T	NM_016167.5	NP_057251.2:p.(Thr124Ile)	NC_000006.11:g.13616738C>T	VUS	1 lab	12944414f0
3:73433246 PDZRN3 G>A	3	73433246	73433246	G	A	PDZRN3	c.2471C>T	NM_015009.2	NP_055824.1:p.(Pro824Leu)	NC_000003.11:g.73433246G>A	(Likely) benign	1 lab	12961cb20e
3:53153890 RFT1 T>G	3	53153890	53153890	T	G	RFT1	c.696+10A>C	NM_052859.3	NP_443091.1:p.?	NC_000003.11:g.53153890T>G	(Likely) benign	1 lab	1296389ae4
12:50344652 AQP2 G>A	12	50344652	50344652	G	A	AQP2	c.39G>A	NM_000486.5	NP_000477.1:p.(Val13=)	NC_000012.11:g.50344652G>A	(Likely) benign	1 lab	12967f5a86
13:111368123 ING1 G>A	13	111368123	111368123	G	A	ING1	c.333G>A	NM_005537.5	NP_005528.4:p.(Trp111Ter)	NC_000013.10:g.111368123G>A	(Likely) pathogenic	1 lab	1296914117
17:29559194 NF1 C>T	17	29559194	29559194	C	T	NF1	c.3301C>T	NM_000267.3	NP_000258.1:p.(Gln1101Ter)	NC_000017.10:g.29559194C>T	(Likely) pathogenic	1 lab	1298a2535a
5:70782395 BDP1 C>G	5	70782395	70782395	C	G	BDP1	c.1154C>G	NM_018429.2	NP_060899.2:p.(Ser385Cys)	NC_000005.9:g.70782395C>G	VUS	1 lab	129a76bb5f
8:30945390 WRN A>T	8	30945390	30945390	A	T	WRN	c.1530A>T	NM_000553.4	NP_000544.2:p.(Glu510Asp)	NC_000008.10:g.30945390A>T	(Likely) benign	1 lab	129b0dcc8f
2:63816516 MDH1 A>T	2	63816516	63816516	A	T	MDH1	c.55A>T	NM_001199111.1	NP_001186040.1:p.(Lys19Ter)	NC_000002.11:g.63816516A>T	VUS	1 lab	129b711610
10:115347999 HABP2 C>T	10	115347999	115347999	C	T	HABP2	c.1554C>T	NM_004132.4	NP_004123.1:p.(Asp518=)	NC_000010.10:g.115347999C>T	(Likely) benign	1 lab	129ba92d15
X:40448306 ATP6AP2 C>T	X	40448306	40448306	C	T	ATP6AP2	c.106C>T	NM_005765.2	NP_005756.2:p.(Pro36Ser)	NC_000023.10:g.40448306C>T	VUS	1 lab	129cf81f67
1:27874837 AHDC1 G>A	1	27874837	27874837	G	A	AHDC1	c.3790C>T	NM_001029882.3	NP_001025053.1:p.(Arg1264Trp)	NC_000001.10:g.27874837G>A	VUS	1 lab	129cfdd579
17:29657521 NF1 G>T	17	29657521	29657521	G	T	NF1	c.5749+5G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29657521G>T	(Likely) pathogenic	1 lab	129d9f2c2b
3:126363181 TXNRD3 T>A	3	126363181	126363181	T	A	TXNRD3	c.478A>T	NM_052883.2	NP_443115.1:p.(Ile160Phe)	NC_000003.11:g.126363181T>A	VUS	1 lab	129f5cef05
4:9784406 DRD5 C>T	4	9784406	9784406	C	T	DRD5	c.753C>T	NM_000798.4	NP_000789.1:p.(Ile251=)	NC_000004.11:g.9784406C>T	(Likely) benign	1 lab	129fb859c1
10:124817748 ACADSB A>T	10	124817748	124817748	A	T	ACADSB	c.*4467A>T	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124817748A>T	(Likely) benign	1 lab	129fc1e5c7
18:6997855 LAMA1 C>T	18	6997855	6997855	C	T	LAMA1	c.4692G>A	NM_005559.3	NP_005550.2:p.(Leu1564=)	NC_000018.9:g.6997855C>T	(Likely) benign	1 lab	12a002c638
9:135779171 TSC1 C>T	9	135779171	135779171	C	T	TSC1	c.2075G>A	NM_000368.4	NP_000359.1:p.(Arg692Gln)	NC_000009.11:g.135779171C>T	VUS	1 lab	12a05d0d52
6:32797750 TAP2 G>A	6	32797750	32797750	G	A	TAP2	c.1752C>T	NM_001290043.1	NP_001276972.1:p.(His584=)	NC_000006.11:g.32797750G>A	(Likely) benign	1 lab	12a08605af
10:27499917 ACBD5 C>T	10	27499917	27499917	C	T	ACBD5	c.925G>A	NM_001352579.1	NP_001339508.1:p.(Asp309Asn)	NC_000010.10:g.27499917C>T	(Likely) benign	1 lab	12a186b976
2:227924314 COL4A4 C>T	2	227924314	227924314	C	T	COL4A4	c.2190G>A	NM_000092.4	NP_000083.3:p.(Pro730=)	NC_000002.11:g.227924314C>T	(Likely) benign	1 lab	12a294692c
2:74684671 INO80B C>A	2	74684671	74684671	C	A	INO80B	c.751C>A	NM_031288.4	NP_112578.2:p.(Arg251=)	NC_000002.11:g.74684671C>A	(Likely) benign	1 lab	12a2df414d
19:55418149 NCR1 G>C	19	55418149	55418149	G	C	NCR1	c.339G>C	NM_004829.6	NP_004820.2:p.(Leu113=)	NC_000019.9:g.55418149G>C	(Likely) benign	1 lab	12a3c9e613
X:37664393 CYBB A>G	X	37664393	37664393	A	G	CYBB	c.1286A>G	NM_000397.3	NP_000388.2:p.(Asn429Ser)	NC_000023.10:g.37664393A>G	(Likely) benign	1 lab	12a51a3787
18:7011299 LAMA1 C>T	18	7011299	7011299	C	T	LAMA1	c.3687G>A	NM_005559.3	NP_005550.2:p.(Gln1229=)	NC_000018.9:g.7011299C>T	VUS	1 lab	2425bf6395
2:168105266 XIRP2 G>A	2	168105266	168105266	G	A	XIRP2	c.7364G>A	NM_152381.5	NP_689594.4:p.(Cys2455Tyr)	NC_000002.11:g.168105266G>A	(Likely) benign	1 lab	12a62ab138
X:153699574 PLXNA3 A>T	X	153699574	153699574	A	T	PLXNA3	c.5283A>T	NM_017514.4	NP_059984.3:p.(Thr1761=)	NC_000023.10:g.153699574A>T	(Likely) benign	1 lab	12a6742732
11:6413317 SMPD1 G>A	11	6413317	6413317	G	A	SMPD1	c.1022G>A	NM_000543.4	NP_000534.3:p.(Arg341His)	NC_000011.9:g.6413317G>A	(Likely) benign	1 lab	12a695dd6d
3:148858059 HPS3 G>A	3	148858059	148858059	G	A	HPS3	c.486G>A	NM_032383.4	NP_115759.2:p.(Lys162=)	NC_000003.11:g.148858059G>A	(Likely) benign	1 lab	12a6c796e1
7:42012165 GLI3 C>T	7	42012165	42012165	C	T	GLI3	c.1874G>A	NM_000168.5	NP_000159.3:p.(Arg625Gln)	NC_000007.13:g.42012165C>T	VUS	1 lab	12a838fff8
16:87367708 FBXO31 C>T	16	87367708	87367708	C	T	FBXO31	c.1181G>A	NM_024735.4	NP_079011.3:p.(Arg394Gln)	NC_000016.9:g.87367708C>T	(Likely) benign	1 lab	12a89141f4
X:149638212 MAMLD1 G>A	X	149638212	149638212	G	A	MAMLD1	c.367G>A	NM_005491.4	NP_005482.2:p.(Gly123Arg)	NC_000023.10:g.149638212G>A	VUS	1 lab	12a8f70001
X:17744988 NHS G>A	X	17744988	17744988	G	A	NHS	c.2762G>A	NM_001291867.1	NP_001278796.1:p.(Gly921Asp)	NC_000023.10:g.17744988G>A	(Likely) benign	1 lab	12aad97ca5
7:1538953 INTS1 C>T	7	1538953	1538953	C	T	INTS1	c.888G>A	NM_001080453.3	NP_001073922.2:p.(Gln296=)	NC_000007.13:g.1538953C>T	(Likely) benign	1 lab	12ac505943
1:152283586 FLG C>A	1	152283586	152283586	C	A	FLG	c.3776G>T	NM_002016.1	NP_002007.1:p.(Gly1259Val)	NC_000001.10:g.152283586C>A	(Likely) benign	1 lab	12ac56c11d
17:41199661 BRCA1 A>G	17	41199661	41199661	A	G	BRCA1	c.5466T>C	NM_007294.3	NP_009225.1:p.(His1822=)	NC_000017.10:g.41199661A>G	(Likely) benign	1 lab	12aceeae66
22:18609128 TUBA8 C>T	22	18609128	18609128	C	T	TUBA8	c.383C>T	NM_018943.2	NP_061816.1:p.(Ala128Val)	NC_000022.10:g.18609128C>T	(Likely) benign	1 lab	12ad76103d
7:99315248 CYP3A7-CYP3A51P C>G	7	99315248	99315248	C	G	CYP3A7-CYP3A51P	c.333G>C	NM_001256497.2	NP_001243426.2:p.(Val111=)	NC_000007.13:g.99315248C>G	(Likely) benign	1 lab	12ae2a12d3
19:6707148 C3 G>A	19	6707148	6707148	G	A	C3	c.2184C>T	NM_000064.2	NP_000055.2:p.(Cys728=)	NC_000019.9:g.6707148G>A	(Likely) benign	1 lab	12af1e0130
11:65306826 LTBP3 G>A	11	65306826	65306826	G	A	LTBP3	c.3733C>T	NM_001130144.2	NP_001123616.1:p.(Leu1245Phe)	NC_000011.9:g.65306826G>A	VUS	1 lab	12af2738f6
4:164393911 TKTL2 CAT>C	4	164393911	164393915	CAT	C	TKTL2	c.974_975del	NM_032136.5	NP_115512.3:p.(Tyr325TrpfsTer6)	NC_000004.11:g.164393914_164393915del	VUS	1 lab	12af9b6cfd
15:100794354 ADAMTS17 C>T	15	100794354	100794354	C	T	ADAMTS17	c.1062G>A	NM_139057.3	NP_620688.2:p.(Pro354=)	NC_000015.9:g.100794354C>T	(Likely) benign	1 lab	12b1d4c79f
X:66937362 AR A>G	X	66937362	66937362	A	G	AR	c.2216A>G	NM_000044.4	NP_000035.2:p.(Gln739Arg)	NC_000023.10:g.66937362A>G	(Likely) pathogenic	1 lab	12b28c9805
2:179412381 TTN T>C	2	179412381	179412381	T	C	TTN	c.93972A>G	NM_001267550.1	NP_001254479.1:p.(Glu31324=)	NC_000002.11:g.179412381T>C	(Likely) benign	1 lab	12b4404192
11:66463928 SPTBN2 G>A	11	66463928	66463928	G	A	SPTBN2	c.4098C>T	NM_006946.3	NP_008877.1:p.(Asp1366=)	NC_000011.9:g.66463928G>A	(Likely) benign	1 lab	12b4618b9e
16:2110670 TSC2 G>A	16	2110670	2110670	G	A	TSC2	c.976-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110670G>A	(Likely) pathogenic	1 lab	12b79d1edd
17:38975287 KRT10 T>G	17	38975287	38975287	T	G	KRT10	c.1500A>C	NM_000421.3	NP_000412.3:p.(Gly500=)	NC_000017.10:g.38975287T>G	(Likely) benign	1 lab	12b8f91e83
12:120156162 CIT C>T	12	120156162	120156162	C	T	CIT	c.4056G>A	NM_001206999.1	NP_001193928.1:p.(Ala1352=)	NC_000012.11:g.120156162C>T	(Likely) benign	1 lab	12b940eab2
X:118986836 UPF3B G>C	X	118986836	118986836	G	C	UPF3B	c.56C>G	NM_080632.2	NP_542199.1:p.(Pro19Arg)	NC_000023.10:g.118986836G>C	VUS	1 lab	12b9978b15
16:89348944 ANKRD11 C>T	16	89348944	89348944	C	T	ANKRD11	c.4006G>A	NM_001256182.1	NP_001243111.1:p.(Glu1336Lys)	NC_000016.9:g.89348944C>T	VUS	1 lab	12ba7acbe9
22:18613633 TUBA8 G>A	22	18613633	18613633	G	A	TUBA8	c.1080G>A	NM_018943.2	NP_061816.1:p.(Pro360=)	NC_000022.10:g.18613633G>A	(Likely) benign	1 lab	12bc080f79
20:2398091 TGM6 T>G	20	2398091	2398091	T	G	TGM6	c.1550T>G	NM_198994.2	NP_945345.2:p.(Leu517Trp)	NC_000020.10:g.2398091T>G	(Likely) pathogenic	1 lab	12bd9e83fb
X:135750259 ARHGEF6 G>A	X	135750259	135750259	G	A	ARHGEF6	c.2260C>T	NM_004840.2	NP_004831.1:p.(Arg754Trp)	NC_000023.10:g.135750259G>A	(Likely) benign	1 lab	12bdb54cba
16:69729267 NFAT5 C>G	16	69729267	69729267	C	G	NFAT5	c.4361C>G	NM_138714.3	NP_619728.2:p.(Ser1454Cys)	NC_000016.9:g.69729267C>G	VUS	1 lab	12c3b0f39e
X:21871590 MBTPS2 G>A	X	21871590	21871590	G	A	MBTPS2	c.639G>A	NM_015884.3	NP_056968.1:p.(Ser213=)	NC_000023.10:g.21871590G>A	(Likely) benign	1 lab	12c45dac48
X:103358965 ZCCHC18 G>A	X	103358965	103358965	G	A	ZCCHC18	c.163G>A	NM_001143978.3	NP_001137450.1:p.(Ala55Thr)	NC_000023.10:g.103358965G>A	(Likely) benign	1 lab	12c582f461
3:127338054 MCM2 C>T	3	127338054	127338054	C	T	MCM2	c.2198C>T	NM_004526.3	NP_004517.2:p.(Pro733Leu)	NC_000003.11:g.127338054C>T	VUS	1 lab	12c63e77e2
18:44159650 LOXHD1 C>T	18	44159650	44159650	C	T	LOXHD1	c.1752G>A	NM_144612.6	NP_653213.6:p.(Thr584=)	NC_000018.9:g.44159650C>T	(Likely) benign	1 lab	12c6be3678
12:133242010 POLE GGCC>G	12	133242010	133242017	GGCC	G	POLE	c.2343_2345del	NM_006231.4	NP_006222.2:p.(Ala782del)	NC_000012.11:g.133242015_133242017del	VUS	1 lab	12c8739829
4:6302534 WFS1 A>G	4	6302534	6302534	A	G	WFS1	c.1012A>G	NM_006005.3	NP_005996.2:p.(Ile338Val)	NC_000004.11:g.6302534A>G	VUS	1 lab	12c8d8d907
1:74701807 TNNI3K G>A	1	74701807	74701807	G	A	TNNI3K	c.62G>A	NM_015978.2	NP_057062.1:p.(Ser21Asn)	NC_000001.10:g.74701807G>A	VUS	1 lab	12ca18c1f5
8:97172897 GDF6 G>C	8	97172897	97172897	G	C	GDF6	c.24C>G	NM_001001557.3	NP_001001557.1:p.(Leu8=)	NC_000008.10:g.97172897G>C	(Likely) benign	1 lab	12caf56e57
19:36593722 WDR62 C>T	19	36593722	36593722	C	T	WDR62	c.3304C>T	NM_001083961.1	NP_001077430.1:p.(Gln1102Ter)	NC_000019.9:g.36593722C>T	(Likely) pathogenic	1 lab	12cb4766f5
2:128015253 ERCC3 A>G	2	128015253	128015253	A	G	ERCC3	c.2076T>C	NM_001303418.1	NP_001290347.1:p.(Thr692=)	NC_000002.11:g.128015253A>G	(Likely) benign	1 lab	12cc090bb7
17:10223779 MYH13 C>T	17	10223779	10223779	C	T	MYH13	c.3146G>A	NM_003802.3	NP_003793.2:p.(Arg1049Gln)	NC_000017.10:g.10223779C>T	VUS	1 lab	12cce825c9
3:121712437 ILDR1 A>G	3	121712437	121712437	A	G	ILDR1	c.1159T>C	NM_001199799.1	NP_001186728.1:p.(Ser387Pro)	NC_000003.11:g.121712437A>G	(Likely) benign	1 lab	12cdfb0c83
2:179522697 TTN ATAT>A	2	179522697	179522702	ATAT	A	TTN	c.37793-12_37793-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179522700_179522702del	(Likely) benign	1 lab	12ec162022
1:204198210 PLEKHA6 T>G	1	204198210	204198210	T	G	PLEKHA6	c.2606A>C	NM_014935.5	NP_055750.2:p.(His869Pro)	NC_000001.10:g.204198210T>G	VUS	1 lab	e2e900f8e3
16:2154491 PKD1 C>T	16	2154491	2154491	C	T	PKD1	c.8161+8G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2154491C>T	(Likely) benign	1 lab	130820bffb
12:114836480 TBX5 G>T	12	114836480	114836480	G	T	TBX5	c.408C>A	NM_000192.3	NP_000183.2:p.(Tyr136Ter)	NC_000012.11:g.114836480G>T	(Likely) pathogenic	1 lab	12d67307cf
X:77158243 COX7B C>G	X	77158243	77158243	C	G	COX7B	c.144C>G	NM_001866.3	NP_001857.1:p.(Phe48Leu)	NC_000023.10:g.77158243C>G	VUS	1 lab	12d72a3ab1
6:167360153 RNASET2 T>C	6	167360153	167360153	T	C	RNASET2				NC_000006.11:g.167360153T>C	VUS	1 lab	12d75345c7
19:36224677 KMT2B C>T	19	36224677	36224677	C	T	KMT2B	c.7063C>T	NM_014727.2	NP_055542.1:p.(Arg2355Trp)	NC_000019.9:g.36224677C>T	VUS	1 lab	12d7d20b7b
8:95677224 ESRP1 T>G	8	95677224	95677224	T	G	ESRP1	c.825T>G	NM_001034915.2	NP_001030087.2:p.(Ser275Arg)	NC_000008.10:g.95677224T>G	VUS	1 lab	12d8217cae
17:25630629 WSB1 A>G	17	25630629	25630629	A	G	WSB1	c.446A>G	NM_015626.10	NP_056441.6:p.(Asn149Ser)	NC_000017.10:g.25630629A>G	VUS	1 lab	12dbcc0ee6
X:128703288 OCRL G>T	X	128703288	128703288	G	T	OCRL	c.1514G>T	NM_000276.3	NP_000267.2:p.(Gly505Val)	NC_000023.10:g.128703288G>T	VUS	1 lab	12dc37d91e
7:151836886 KMT2C A>G	7	151836886	151836886	A	G	KMT2C	c.14344-10T>C	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151836886A>G	(Likely) benign	1 lab	12dccdb0d0
2:74607147 DCTN1 C>T	2	74607147	74607147	C	T	DCTN1	c.18G>A	NM_004082.4	NP_004073.2:p.(Arg6=)	NC_000002.11:g.74607147C>T	(Likely) benign	1 lab	12dfa5e9de
10:73377011 CDH23 C>T	10	73377011	73377011	C	T	CDH23	c.995C>T	NM_022124.5	NP_071407.4:p.(Thr332Met)	NC_000010.10:g.73377011C>T	VUS	1 lab	12e03d98f5
10:123276830 FGFR2 T>C	10	123276830	123276830	T	C	FGFR2	c.1084+3A>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123276830T>C	(Likely) pathogenic	1 lab	12e1a91478
4:190882959 FRG1 A>T	4	190882959	190882959	A	T	FRG1	c.630-18A>T	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190882959A>T	(Likely) benign	1 lab	3185df94c4
X:69247715 EDA GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC>G	X	69247715	69247761	GCAGGACCTCCTGGACCCAATGGCCCTCCAGGACCCC	G	EDA	c.546_581del	NM_001399.5	NP_001390.1:p.(Asn185_Pro196del)	NC_000023.10:g.69247726_69247761del	(Likely) pathogenic	1 lab	e2ec0d6d20
12:7342969 PEX5 T>C	12	7342969	7342969	T	C	PEX5	c.59T>C	NM_001300789.1	NP_001287718.1:p.(Val20Ala)	NC_000012.11:g.7342969T>C	(Likely) benign	1 lab	12e46ea9e9
16:16315658 ABCC6 C>A	16	16315658	16315658	C	A	ABCC6	c.67G>T	NM_001171.5	NP_001162.4:p.(Ala23Ser)	NC_000016.9:g.16315658C>A	(Likely) benign	1 lab	12e61b9083
12:133245415 POLE G>A	12	133245415	133245415	G	A	POLE	c.1905C>T	NM_006231.3	NP_006222.2:p.(Ile635=)	NC_000012.11:g.133245415G>A	(Likely) benign	1 lab	12e6b6d422
18:43514856 EPG5 G>A	18	43514856	43514856	G	A	EPG5	c.2176C>T	NM_020964.3	NP_066015.2:p.(Leu726Phe)	NC_000018.9:g.43514856G>A	VUS	1 lab	12e9232832
2:25964939 ASXL2 C>T	2	25964939	25964939	C	T	ASXL2	c.4267G>A	NM_018263.5	NP_060733.4:p.(Gly1423Ser)	NC_000002.11:g.25964939C>T	VUS	1 lab	12e9dfb9a1
2:186661534 FSIP2 C>T	2	186661534	186661534	C	T	FSIP2	c.9671C>T	NM_173651.3	NP_775922.3:p.(Thr3224Met)	NC_000002.11:g.186661534C>T	(Likely) benign	1 lab	12eb19c47f
9:13113948 MPDZ T>C	9	13113948	13113948	T	C	MPDZ	c.5452A>G	NM_003829.4	NP_003820.2:p.(Ser1818Gly)	NC_000009.11:g.13113948T>C	(Likely) benign	1 lab	12eb6fcb0f
12:53202599 KRT4 C>T	12	53202599	53202599	C	T	KRT4	c.870G>A	NM_002272.3	NP_002263.3:p.(Thr290=)	NC_000012.11:g.53202599C>T	(Likely) benign	1 lab	12ec81baa8
19:38572367 SIPA1L3 GGCCACC>G	19	38572367	38572397	GGCCACC	G	SIPA1L3	c.187_192del	NM_015073.3	NP_055888.1:p.(Ala63_Thr64del)	NC_000019.9:g.38572392_38572397del	VUS	1 lab	12ecd06a18
15:28458942 HERC2 C>A	15	28458942	28458942	C	A	HERC2	c.6732G>T	NM_004667.5	NP_004658.3:p.(Val2244=)	NC_000015.9:g.28458942C>A	(Likely) benign	1 lab	12ecd929a0
12:124220115 ATP6V0A2 G>A	12	124220115	124220115	G	A	ATP6V0A2	c.769G>A	NM_012463.3	NP_036595.2:p.(Glu257Lys)	NC_000012.11:g.124220115G>A	(Likely) benign	1 lab	12ed9724f0
16:70884377 HYDIN G>A	16	70884377	70884377	G	A	HYDIN	c.12625C>T	NM_001270974.2	NP_001257903.1:p.(Gln4209Ter)	NC_000016.9:g.70884377G>A	(Likely) pathogenic	1 lab	12edc71aae
11:125476365 STT3A G>A	11	125476365	125476365	G	A	STT3A	c.780+5G>A	NM_001278503.1	NP_001265432.1:p.?	NC_000011.9:g.125476365G>A	VUS	1 lab	12ee89f09a
19:38600905 SIPA1L3 G>T	19	38600905	38600905	G	T	SIPA1L3	c.2172G>T	NM_015073.2	NP_055888.1:p.(Thr724=)	NC_000019.9:g.38600905G>T	(Likely) benign	1 lab	12ef176a83
12:103246715 PAH G>A	12	103246715	103246715	G	A	PAH	c.720C>T	NM_000277.1	NP_000268.1:p.(Phe240=)	NC_000012.11:g.103246715G>A	(Likely) pathogenic	1 lab	12f005c9bf
X:47487668 CFP C>T	X	47487668	47487668	C	T	CFP	c.236G>A	NM_002621.2	NP_002612.1:p.(Arg79Gln)	NC_000023.10:g.47487668C>T	(Likely) benign	1 lab	12f0299bd9
7:65554081 ASL G>C	7	65554081	65554081	G	C	ASL	c.837G>C	NM_001024943.1	NP_001020114.1:p.(Thr279=)	NC_000007.13:g.65554081G>C	(Likely) benign	1 lab	12f0b9365b
13:32910516 BRCA2 C>G	13	32910516	32910516	C	G	BRCA2	c.2024C>G	NM_000059.3	NP_000050.2:p.(Thr675Arg)	NC_000013.10:g.32910516C>G	(Likely) benign	1 lab	12f18140b4
4:107170110 TBCK C>T	4	107170110	107170110	C	T	TBCK	c.172G>A	NM_001290768.1	NP_001277697.1:p.(Ala58Thr)	NC_000004.11:g.107170110C>T	VUS	1 lab	12f2ccb067
X:102337262 NXF3 T>C	X	102337262	102337262	T	C	NXF3	c.811A>G	NM_022052.1	NP_071335.1:p.(Lys271Glu)	NC_000023.10:g.102337262T>C	(Likely) benign	1 lab	12f3d4b242
10:50724329 ERCC6 C>A	10	50724329	50724329	C	A	ERCC6	c.2236G>T	NM_001277058.1	NP_001263987.1:p.(Gly746Cys)	NC_000010.10:g.50724329C>A	VUS	1 lab	12f40cf3b8
19:6713240 C3 C>T	19	6713240	6713240	C	T	C3	c.963G>A	NM_000064.2	NP_000055.2:p.(Gly321=)	NC_000019.9:g.6713240C>T	(Likely) benign	1 lab	12f56f3331
19:15281498 NOTCH3 T>G	19	15281498	15281498	T	G	NOTCH3	c.4875A>C	NM_000435.2	NP_000426.2:p.(Pro1625=)	NC_000019.9:g.15281498T>G	(Likely) benign	1 lab	12f66c582e
21:34922274 SON C>T	21	34922274	34922274	C	T	SON	c.737C>T	NM_138927.2	NP_620305.2:p.(Ala246Val)	NC_000021.8:g.34922274C>T	(Likely) benign	1 lab	12f674687f
3:123008709 ADCY5 G>A	3	123008709	123008709	G	A	ADCY5	c.3420C>T	NM_183357.2	NP_899200.1:p.(Tyr1140=)	NC_000003.11:g.123008709G>A	(Likely) benign	1 lab	12f67628b3
5:70860710 BDP1 T>G	5	70860710	70860710	T	G	BDP1	c.7873T>G	NM_018429.2	NP_060899.2:p.(Ter2625GluextTer11)	NC_000005.9:g.70860710T>G	VUS	1 lab	12f7a3a208
16:89789195 ZNF276 G>A	16	89789195	89789195	G	A	ZNF276	c.462G>A	NM_001113525.2	NP_001106997.1:p.(Leu154=)	NC_000016.9:g.89789195G>A	(Likely) benign	1 lab	12f85c066b
17:27068998 NEK8 C>T	17	27068998	27068998	C	T	NEK8	c.2072C>T	NM_178170.3	NP_835464.1:p.(Pro691Leu)	NC_000017.10:g.27068998C>T	VUS	1 lab	12f902f951
19:6751068 TRIP10 T>A	19	6751068	6751068	T	A	TRIP10	c.1513T>A	NM_001288963.1	NP_001275892.1:p.(Ser505Thr)	NC_000019.9:g.6751068T>A	(Likely) benign	1 lab	12fa294257
22:21165281 PI4KA C>G	22	21165281	21165281	C	G	PI4KA	c.1045G>C	NM_058004.3	NP_477352.3:p.(Asp349His)	NC_000022.10:g.21165281C>G	VUS	1 lab	12fa76027a
11:6568564 DNHD1 C>T	11	6568564	6568564	C	T	DNHD1	c.6395C>T	NM_144666.2	NP_653267.2:p.(Thr2132Ile)	NC_000011.9:g.6568564C>T	VUS	1 lab	12fb8b1448
2:189870102 COL3A1 C>T	2	189870102	189870102	C	T	COL3A1	c.2958C>T	NM_000090.3	NP_000081.1:p.(Asn986=)	NC_000002.11:g.189870102C>T	(Likely) benign	1 lab	12fc02b9c9
1:3746444 CEP104 C>T	1	3746444	3746444	C	T	CEP104	c.1954G>A	NM_014704.3	NP_055519.1:p.(Asp652Asn)	NC_000001.10:g.3746444C>T	VUS	1 lab	12fdfabbf5
19:6685113 C3 G>A	19	6685113	6685113	G	A	C3	c.3855C>T	NM_000064.2	NP_000055.2:p.(Asp1285=)	NC_000019.9:g.6685113G>A	(Likely) benign	1 lab	12fee9766e
1:93167753 EVI5 C>A	1	93167753	93167753	C	A	EVI5	c.716G>T	NM_001308248.1	NP_001295177.1:p.(Arg239Leu)	NC_000001.10:g.93167753C>A	VUS	1 lab	13016d94e7
2:130832292 POTEF T>A	2	130832292	130832292	T	A	POTEF	c.2753A>T	NM_001099771.2	NP_001093241.1:p.(Tyr918Phe)	NC_000002.11:g.130832292T>A	(Likely) benign	1 lab	1302b86ab6
X:41075884 USP9X G>A	X	41075884	41075884	G	A	USP9X	c.6064G>A	NM_001039591.3	NP_001034680.2:p.(Val2022Ile)	NC_000023.10:g.41075884G>A	(Likely) benign	1 lab	1302e0cfd0
8:38869207 ADAM9 G>A	8	38869207	38869207	G	A	ADAM9	c.226G>A	NM_003816.2	NP_003807.1:p.(Glu76Lys)	NC_000008.10:g.38869207G>A	(Likely) benign	1 lab	1309ec02eb
X:84526516 ZNF711 A>G	X	84526516	84526516	A	G	ZNF711	c.1968A>G	NM_021998.4	NP_068838.3:p.(Thr656=)	NC_000023.10:g.84526516A>G	(Likely) benign	1 lab	130b77913a
16:2134521 TSC2 C>T	16	2134521	2134521	C	T	TSC2	c.4298C>T	NM_000548.3	NP_000539.2:p.(Ser1433Leu)	NC_000016.9:g.2134521C>T	(Likely) benign	1 lab	130bcfc365
2:149226229 MBD5 A>C	2	149226229	149226229	A	C	MBD5	c.717A>C	NM_018328.4	NP_060798.2:p.(Pro239=)	NC_000002.11:g.149226229A>C	(Likely) benign	1 lab	130dbdd00a
8:61765888 CHD7 G>T	8	61765888	61765888	G	T	CHD7				NC_000008.10:g.61765888G>T	(Likely) pathogenic	1 lab	132baa1fab
14:76165541 TTLL5 G>A	14	76165541	76165541	G	A	TTLL5	c.513G>A	NM_015072.4	NP_055887.3:p.(Ser171=)	NC_000014.8:g.76165541G>A	(Likely) benign	1 lab	130e0795ac
12:116422049 MED13L G>A	12	116422049	116422049	G	A	MED13L	c.4467C>T	NM_015335.4	NP_056150.1:p.(Ser1489=)	NC_000012.11:g.116422049G>A	(Likely) benign	1 lab	131191a2a8
3:48500756 ATRIP A>G	3	48500756	48500756	A	G	ATRIP	c.551-2A>G	NM_001271023.1	NP_001257952.1:p.?	NC_000003.11:g.48500756A>G	(Likely) pathogenic	1 lab	13133b874a
12:121435339 HNF1A A>T	12	121435339	121435339	A	T	HNF1A	c.1372A>T	NM_001306179.1	NP_001293108.1:p.(Thr458Ser)	NC_000012.11:g.121435339A>T	VUS	1 lab	1316183815
16:58550418 SETD6 A>T	16	58550418	58550418	A	T	SETD6	c.513A>T	NM_001160305.2	NP_001153777.1:p.(Thr171=)	NC_000016.9:g.58550418A>T	(Likely) benign	1 lab	1316fd71d5
17:29541543 NF1 T>G	17	29541543	29541543	T	G	NF1	c.1467T>G	NM_000267.3	NP_000258.1:p.(Tyr489Ter)	NC_000017.10:g.29541543T>G	(Likely) pathogenic	1 lab	131759bfa0
X:100609690 BTK GCAAA>G	X	100609690	100609696	GCAAA	G	BTK	c.1567-12_1567-9del	NM_000061.3	NP_000052.1:p.?	NC_000023.10:g.100609693_100609696del	(Likely) pathogenic	1 lab	e2ef1c49cc
X:1422903 CSF2RA T>C	X	1422903	1422903	T	C	CSF2RA	c.1034T>C	NM_001161529.1	NP_001155001.1:p.(Leu345Pro)	NC_000023.10:g.1422903T>C	VUS	1 lab	131a85be9e
X:9733727 GPR143 C>T	X	9733727	9733727	C	T	GPR143	c.131G>A	NM_000273.2	NP_000264.2:p.(Gly44Asp)	NC_000023.10:g.9733727C>T	VUS	1 lab	131b533a51
16:2124392 TSC2 T>C	16	2124392	2124392	T	C	TSC2	c.2545+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2124392T>C	(Likely) pathogenic	1 lab	131bb66600
X:154133178 F8 T>C	X	154133178	154133178	T	C	F8	c.5494A>G	NM_000132.3	NP_000123.1:p.(Lys1832Glu)	NC_000023.10:g.154133178T>C	(Likely) benign	1 lab	131d04bee4
17:79866806 PCYT2 C>T	17	79866806	79866806	C	T	PCYT2	c.286G>A	NM_001330518.1	NP_001317447.1:p.(Val96Ile)	NC_000017.10:g.79866806C>T	(Likely) benign	1 lab	131dd58070
18:6887166 ARHGAP28 C>T	18	6887166	6887166	C	T	ARHGAP28	c.1464C>T	NM_001366230.1	NP_001353159.1:p.(His488=)	NC_000018.9:g.6887166C>T	(Likely) benign	1 lab	131ead50a4
18:11893517 MPPE1 C>T	18	11893517	11893517	C	T	MPPE1	c.340G>A	NM_023075.5	NP_075563.3:p.(Val114Ile)	NC_000018.9:g.11893517C>T	(Likely) benign	1 lab	131fb6f08a
3:124281690 KALRN C>T	3	124281690	124281690	C	T	KALRN	c.4930C>T	NM_001024660.4	NP_001019831.2:p.(Leu1644Phe)	NC_000003.11:g.124281690C>T	(Likely) benign	1 lab	13238a7390
7:23000002 HYCC1 A>C	7	23000002	23000002	A	C	HYCC1	c.864T>G	NM_001363466.1	NP_001350395.1:p.(His288Gln)	NC_000007.13:g.23000002A>C	VUS	1 lab	13247faf9a
2:29295246 PCARE C>T	2	29295246	29295246	C	T	PCARE	c.1882G>A	NM_001029883.2	NP_001025054.1:p.(Ala628Thr)	NC_000002.11:g.29295246C>T	(Likely) benign	1 lab	1325a22443
6:86253010 SNX14 A>G	6	86253010	86253010	A	G	SNX14	c.1342T>C	NM_001350532.1	NP_001337461.1:p.(Tyr448His)	NC_000006.11:g.86253010A>G	VUS	1 lab	1325a946d4
20:42232820 IFT52 T>A	20	42232820	42232820	T	A	IFT52	c.-334-3T>A	NM_001323578.1	NP_001310507.1:p.?	NC_000020.10:g.42232820T>A	(Likely) benign	1 lab	132782ccc6
1:235658099 B3GALNT2 T>C	1	235658099	235658099	T	C	B3GALNT2	c.152A>G	NM_152490.4	NP_689703.1:p.(Tyr51Cys)	NC_000001.10:g.235658099T>C	(Likely) benign	1 lab	13293b2dca
1:240371475 FMN2 T>G	1	240371475	240371475	T	G	FMN2	c.3363T>G	NM_020066.5	NP_064450.3:p.(Pro1121=)	NC_000001.10:g.240371475T>G	(Likely) benign	1 lab	1329b5c229
4:41748077 PHOX2B C>T	4	41748077	41748077	C	T	PHOX2B	c.692G>A	NM_003924.3	NP_003915.2:p.(Gly231Asp)	NC_000004.11:g.41748077C>T	(Likely) benign	1 lab	132ae186f2
1:47745955 STIL G>A	1	47745955	47745955	G	A	STIL	c.2175C>T	NM_001048166.1	NP_001041631.1:p.(Phe725=)	NC_000001.10:g.47745955G>A	(Likely) benign	1 lab	132b03683e
11:45832707 SLC35C1 G>A	11	45832707	45832707	G	A	SLC35C1	c.916G>A	NM_018389.4	NP_060859.4:p.(Ala306Thr)	NC_000011.9:g.45832707G>A	(Likely) benign	1 lab	132b7c767e
21:47422140 COL6A1 A>G	21	47422140	47422140	A	G	COL6A1	c.2075A>G	NM_001848.3	NP_001839.2:p.(Lys692Arg)	NC_000021.8:g.47422140A>G	VUS	1 lab	e2f8e07b81
14:74726379 VSX2 G>T	14	74726379	74726379	G	T	VSX2	c.654G>T	NM_182894.2	NP_878314.1:p.(Glu218Asp)	NC_000014.8:g.74726379G>T	VUS	1 lab	132ccfc73d
1:161192511 APOA2 C>G	1	161192511	161192511	C	G	APOA2	c.185+197G>C	NM_001643.1	NP_001634.1:p.?	NC_000001.10:g.161192511C>G	(Likely) benign	1 lab	132d626bcb
2:227920788 COL4A4 G>A	2	227920788	227920788	G	A	COL4A4	c.2589C>T	NM_000092.4	NP_000083.3:p.(Pro863=)	NC_000002.11:g.227920788G>A	(Likely) benign	1 lab	132d7fc05a
9:71661383 FXN CT>C	9	71661383	71661386	CT	C	FXN	c.251del	NM_000144.5	NP_000135.2:p.(Leu84TrpfsTer7)	NC_000009.11:g.71661386del	(Likely) pathogenic	1 lab	132f023e68
1:3342196 PRDM16 C>T	1	3342196	3342196	C	T	PRDM16	c.2991C>T	NM_022114.3	NP_071397.3:p.(His997=)	NC_000001.10:g.3342196C>T	(Likely) benign	1 lab	132f51d8ec
2:179528604 TTN G>A	2	179528604	179528604	G	A	TTN	c.36390C>T	NM_001267550.1	NP_001254479.1:p.(Ile12130=)	NC_000002.11:g.179528604G>A	VUS	1 lab	132f955f24
1:55077399 FAM151A G>C	1	55077399	55077399	G	C	FAM151A	c.820C>G	NM_176782.3	NP_788954.2:p.(Gln274Glu)	NC_000001.10:g.55077399G>C	VUS	1 lab	1330382bda
22:21346070 LZTR1 C>T	22	21346070	21346070	C	T	LZTR1	c.945C>T	NM_006767.3	NP_006758.2:p.(Asp315=)	NC_000022.10:g.21346070C>T	(Likely) benign	1 lab	13310dc279
17:35902380 SYNRG T>C	17	35902380	35902380	T	C	SYNRG	c.2896A>G	NM_007247.6	NP_009178.3:p.(Ser966Gly)	NC_000017.10:g.35902380T>C	(Likely) benign	1 lab	13328ef259
2:179400953 TTN G>A	2	179400953	179400953	G	A	TTN	c.100521C>T	NM_001267550.1	NP_001254479.1:p.(Val33507=)	NC_000002.11:g.179400953G>A	(Likely) benign	1 lab	1332d53d14
1:228346669 GJC2 G>A	1	228346669	228346669	G	A	GJC2	c.1210G>A	NM_020435.3	NP_065168.2:p.(Gly404Arg)	NC_000001.10:g.228346669G>A	(Likely) benign	1 lab	1333c9766a
17:19575031 ALDH3A2 C>T	17	19575031	19575031	C	T	ALDH3A2	c.1208-3C>T	NM_001031806.1	NP_001026976.1:p.?	NC_000017.10:g.19575031C>T	(Likely) benign	1 lab	133854798b
9:39133057 CNTNAP3 G>T	9	39133057	39133057	G	T	CNTNAP3	c.1952C>A	NM_033655.3	NP_387504.2:p.(Pro651Gln)	NC_000009.11:g.39133057G>T	(Likely) benign	1 lab	133a38fb50
11:121000397 TECTA G>A	11	121000397	121000397	G	A	TECTA	c.2418G>A	NM_005422.2	NP_005413.2:p.(Leu806=)	NC_000011.9:g.121000397G>A	(Likely) benign	1 lab	133a6eba5b
12:111886087 SH2B3 A>C	12	111886087	111886087	A	C	SH2B3	c.1709A>C	NM_005475.2	NP_005466.1:p.(Asn570Thr)	NC_000012.11:g.111886087A>C	VUS	1 lab	133b2f5631
5:177577923 NHP2 C>T	5	177577923	177577923	C	T	NHP2	c.302G>A	NM_017838.4	NP_060308.1:p.(Arg101Gln)	NC_000005.9:g.177577923C>T	(Likely) benign	1 lab	002226040f
14:75514200 MLH3 T>C	14	75514200	75514200	T	C	MLH3	c.2159A>G	NM_001040108.2	NP_001035197.1:p.(Tyr720Cys)	NC_000014.8:g.75514200T>C	(Likely) benign	1 lab	0036035500
10:89621853 KLLN T>C	10	89621853	89621853	T	C	KLLN	c.392A>G	NM_001126049.2	NP_001119521.1:p.(Asn131Ser)	NC_000010.10:g.89621853T>C	(Likely) benign	1 lab	00415562cf
15:89401989 ACAN C>T	15	89401989	89401989	C	T	ACAN	c.6173C>T	NM_001369268.1	NP_001356197.1:p.(Pro2058Leu)	NC_000015.9:g.89401989C>T	(Likely) benign	1 lab	0053951af8
5:112102095 APC G>T	5	112102095	112102095	G	T	APC	c.208G>T	NM_000038.6	NP_000029.2:p.(Glu70Ter)	NC_000005.9:g.112102095G>T	(Likely) pathogenic	1 lab	00cf4ae41e
19:15302318 NOTCH3 C>T	19	15302318	15302318	C	T	NOTCH3	c.953G>A	NM_000435.3	NP_000426.2:p.(Cys318Tyr)	NC_000019.9:g.15302318C>T	(Likely) pathogenic	1 lab	00f39e8a23
9:136221708 SURF1 CAG>C	9	136221708	136221710	CAG	C	SURF1	c.209_210del	NM_003172.4	NP_003163.1:p.(Pro70ArgfsTer31)	NC_000009.11:g.136221709_136221710del	(Likely) pathogenic	1 lab	00f486d6bf
17:33434042 RAD51D G>A	17	33434042	33434042	G	A	RAD51D	c.445C>T	NM_002878.4	NP_002869.3:p.(Leu149=)	NC_000017.10:g.33434042G>A	(Likely) benign	1 lab	015391b19a
4:1808285 FGFR3 G>A	4	1808285	1808285	G	A	FGFR3	c.2043G>A	NM_000142.5	NP_000133.1:p.(Gly681=)	NC_000004.11:g.1808285G>A	(Likely) benign	1 lab	0154633f18
7:124569930 POT1 C>T	7	124569930	124569930	C	T	POT1	c.-756G>A	NM_001042594.1	NP_001036059.1:p.?	NC_000007.13:g.124569930C>T	(Likely) benign	1 lab	0162c67ee8
1:120263899 PHGDH A>G	1	120263899	120263899	A	G	PHGDH	c.245A>G	NM_006623.4	NP_006614.2:p.(Asn82Ser)	NC_000001.10:g.120263899A>G	VUS	1 lab	0185a0fbf8
11:65789347 CATSPER1 C>T	11	65789347	65789347	C	T	CATSPER1	c.1433G>A	NM_053054.4	NP_444282.3:p.(Trp478Ter)	NC_000011.9:g.65789347C>T	(Likely) pathogenic	1 lab	019315b359
2:152435886 NEB A>G	2	152435886	152435886	A	G	NEB	c.16670T>C	NM_001164508.2	NP_001157980.2:p.(Ile5557Thr)	NC_000002.11:g.152435886A>G	(Likely) benign	1 lab	01a4de4278
11:20628646 SLC6A5 G>T	11	20628646	20628646	G	T	SLC6A5	c.773G>T	NM_004211.5	NP_004202.4:p.(Gly258Val)	NC_000011.9:g.20628646G>T	VUS	1 lab	01ee67619c
4:1961137 NSD2 G>A	4	1961137	1961137	G	A	NSD2	c.2986-61G>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1961137G>A	(Likely) benign	1 lab	01f5b5a6c0
16:3900335 CREBBP G>A	16	3900335	3900335	G	A	CREBBP	c.761C>T	NM_004380.3	NP_004371.2:p.(Ala254Val)	NC_000016.9:g.3900335G>A	(Likely) benign	1 lab	01f67efe21
2:73114673 SPR G>A	2	73114673	73114673	G	A	SPR	c.112G>A	NM_003124.5	NP_003115.1:p.(Val38Ile)	NC_000002.11:g.73114673G>A	(Likely) benign	1 lab	025f9689fa
12:112915499 PTPN11 C>T	12	112915499	112915499	C	T	PTPN11	c.898C>T	NM_002834.5	NP_002825.3:p.(Pro300Ser)	NC_000012.11:g.112915499C>T	VUS	1 lab	0326620923
7:6022866 PMS2 C>T	7	6022866	6022866	C	T	PMS2	c.2007-244G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022866C>T	(Likely) benign	1 lab	035ec9afd0
19:7142824 INSR T>C	19	7142824	7142824	T	C	INSR	c.2542+3A>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7142824T>C	(Likely) benign	1 lab	38111c899a
2:167266808 SCN7A C>T	2	167266808	167266808	C	T	SCN7A	c.3633G>A	NM_002976.3	NP_002967.2:p.(Thr1211=)	NC_000002.11:g.167266808C>T	(Likely) benign	1 lab	0365031c5c
7:95053893 PON2 G>A	7	95053893	95053893	G	A	PON2	c.79C>T	NM_000305.3	NP_000296.2:p.(Arg27Ter)	NC_000007.13:g.95053893G>A	VUS	1 lab	037c1c6424
20:34025212 GDF5 G>T	20	34025212	34025212	G	T	GDF5	c.497C>A	NM_000557.5	NP_000548.2:p.(Pro166His)	NC_000020.10:g.34025212G>T	(Likely) benign	1 lab	0388e6e1c0
9:135947023 CEL G>C	9	135947023	135947023	G	C	CEL	c.2134G>C	NM_001807.6	NP_001798.3:p.(Ala712Pro)	NC_000009.11:g.135947023G>C	(Likely) benign	1 lab	03a416b53d
17:18044430 MYO15A GC>G	17	18044430	18044432	GC	G	MYO15A	c.5506del	NM_016239.4	NP_057323.3:p.(Leu1836CysfsTer13)	NC_000017.10:g.18044432del	(Likely) pathogenic	1 lab	0418bed1a2
12:44165151 IRAK4 C>T	12	44165151	44165151	C	T	IRAK4	c.290C>T	NM_016123.4	NP_057207.2:p.(Ala97Val)	NC_000012.11:g.44165151C>T	VUS	1 lab	0432521a40
2:198272806 SF3B1 A>C	2	198272806	198272806	A	C	SF3B1	c.1155T>G	NM_012433.4	NP_036565.2:p.(Ala385=)	NC_000002.11:g.198272806A>C	(Likely) benign	1 lab	0445426f57
15:89402322 ACAN G>A	15	89402322	89402322	G	A	ACAN	c.6506G>A	NM_001369268.1	NP_001356197.1:p.(Gly2169Glu)	NC_000015.9:g.89402322G>A	(Likely) benign	1 lab	049182c4e9
16:2139882 PKD1 C>T	16	2139882	2139882	C	T	PKD1	c.12758G>A	NM_001009944.3	NP_001009944.3:p.(Arg4253Gln)	NC_000016.9:g.2139882C>T	VUS	1 lab	04b5f954fc
16:2160649 PKD1 A>G	16	2160649	2160649	A	G	PKD1	c.4519T>C	NM_001009944.3	NP_001009944.3:p.(Trp1507Arg)	NC_000016.9:g.2160649A>G	(Likely) benign	1 lab	04bc2da819
18:20569210 RBBP8 C>G	18	20569210	20569210	C	G	RBBP8	c.736C>G	NM_002894.3	NP_002885.1:p.(Pro246Ala)	NC_000018.9:g.20569210C>G	(Likely) benign	1 lab	0533103173
15:23060816 NIPA1 C>T	15	23060816	23060816	C	T	NIPA1	c.316G>A	NM_144599.4	NP_653200.2:p.(Gly106Arg)	NC_000015.9:g.23060816C>T	(Likely) pathogenic	1 lab	0537d78297
6:108197794 SEC63 CAT>C	6	108197794	108197796	CAT	C	SEC63	c.2006_2007del	NM_007214.4	NP_009145.1:p.(His669ArgfsTer41)	NC_000006.11:g.108197795_108197796del	(Likely) pathogenic	1 lab	05705bd137
2:48035416 FBXO11 A>T	2	48035416	48035416	A	T	FBXO11				NC_000002.11:g.48035416A>T	(Likely) benign	1 lab	0572458958
10:327189 DIP2C T>C	10	327189	327189	T	C	DIP2C	c.4369A>G	NM_014974.3	NP_055789.1:p.(Ile1457Val)	NC_000010.10:g.327189T>C	VUS	1 lab	05d831ff5f
17:56770081 RAD51C A>G	17	56770081	56770081	A	G	RAD51C	c.77A>G	NM_058216.3	NP_478123.1:p.(Lys26Arg)	NC_000017.10:g.56770081A>G	VUS	1 lab	0632a7f8e3
16:23632769 PALB2 A>G	16	23632769	23632769	A	G	PALB2	c.3027T>C	NM_024675.4	NP_078951.2:p.(Pro1009=)	NC_000016.9:g.23632769A>G	(Likely) benign	1 lab	0671194361
2:220421395 OBSL1 C>T	2	220421395	220421395	C	T	OBSL1	c.4117G>A	NM_015311.3	NP_056126.1:p.(Glu1373Lys)	NC_000002.11:g.220421395C>T	(Likely) benign	1 lab	06b6c738bf
8:145001617 PLEC G>A	8	145001617	145001617	G	A	PLEC	c.3717C>T	NM_201384.3	NP_958786.1:p.(Ala1239=)	NC_000008.10:g.145001617G>A	(Likely) benign	1 lab	06bd7e1987
6:129511415 LAMA2 T>C	6	129511415	129511415	T	C	LAMA2	c.1533T>C	NM_000426.4	NP_000417.3:p.(Asn511=)	NC_000006.11:g.129511415T>C	(Likely) benign	1 lab	06c32b4119
10:89473069 PAPSS2 T>TAAA	10	89473069	89473091	T	TAAA	PAPSS2	c.381+22_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473089_89473091dup	(Likely) benign	1 lab	06c3f896a3
3:9515025 SETD5 C>G	3	9515025	9515025	C	G	SETD5	c.3301C>G	NM_001080517.3	NP_001073986.1:p.(Gln1101Glu)	NC_000003.11:g.9515025C>G	VUS	1 lab	06ec94d659
3:130694264 ATP2C1 CACTT>C	3	130694264	130694271	CACTT	C	ATP2C1	c.1506_1509del	NM_001378687.1	NP_001365616.1:p.(Thr503SerfsTer33)	NC_000003.11:g.130694268_130694271del	(Likely) pathogenic	1 lab	07092bc5fd
19:7184392 INSR C>T	19	7184392	7184392	C	T	INSR	c.909G>A	NM_000208.4	NP_000199.2:p.(Gln303=)	NC_000019.9:g.7184392C>T	(Likely) benign	1 lab	073cb9858c
10:89473068 PAPSS2 GT>G	10	89473068	89473069	GT	G	PAPSS2	c.381+2del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473069del	VUS	1 lab	075684e4a6
7:56088931 PSPH G>GA	7	56088931	56088937	G	GA	PSPH	c.-19-8dup	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56088937dup	(Likely) benign	1 lab	07df0c447e
8:10467702 RP1L1 T>C	8	10467702	10467702	T	C	RP1L1	c.3906A>G	NM_178857.6	NP_849188.4:p.(Gln1302=)	NC_000008.10:g.10467702T>C	(Likely) benign	1 lab	07eae3f781
20:44527140 CTSA C>G	20	44527140	44527140	C	G	CTSA	c.*51C>G	NM_000308.4	NP_000299.3:p.?	NC_000020.10:g.44527140C>G	(Likely) benign	1 lab	0860d3e79d
1:27023748 ARID1A G>C	1	27023748	27023748	G	C	ARID1A	c.854G>C	NM_006015.6	NP_006006.3:p.(Gly285Ala)	NC_000001.10:g.27023748G>C	VUS	1 lab	08693b2954
7:75614143 POR C>T	7	75614143	75614143	C	T	POR	c.1115C>T	NM_000941.3	NP_000932.3:p.(Thr372Met)	NC_000007.13:g.75614143C>T	VUS	1 lab	088d52833a
16:1618306 IFT140 C>T	16	1618306	1618306	C	T	IFT140	c.1682G>A	NM_014714.4	NP_055529.2:p.(Ser561Asn)	NC_000016.9:g.1618306C>T	(Likely) benign	1 lab	08988cb9d7
12:116457678 MED13L A>C	12	116457678	116457678	A	C	MED13L	c.725T>G	NM_015335.5	NP_056150.1:p.(Phe242Cys)	NC_000012.11:g.116457678A>C	VUS	1 lab	08fd930687
16:31105941 VKORC1 C>G	16	31105941	31105941	C	G	VKORC1	c.110G>C	NM_024006.6	NP_076869.1:p.(Arg37Pro)	NC_000016.9:g.31105941C>G	VUS	1 lab	090741286d
20:2377210 TGM6 C>T	20	2377210	2377210	C	T	TGM6	c.483C>T	NM_198994.3	NP_945345.2:p.(Ser161=)	NC_000020.10:g.2377210C>T	(Likely) benign	1 lab	098135171f
X:152994677 ABCD1 C>T	X	152994677	152994677	C	T	ABCD1	c.901-10C>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.152994677C>T	(Likely) benign	1 lab	098619c044
2:32743441 BIRC6 A>G	2	32743441	32743441	A	G	BIRC6	c.11470A>G	NM_016252.4	NP_057336.3:p.(Met3824Val)	NC_000002.11:g.32743441A>G	VUS	1 lab	099bdbcee3
2:167089959 SCN9A G>T	2	167089959	167089959	G	T	SCN9A	c.3815C>A	NM_001365536.1	NP_001352465.1:p.(Thr1272Asn)	NC_000002.11:g.167089959G>T	VUS	1 lab	09e0717a0c
11:2186980 TH G>A	11	2186980	2186980	G	A	TH	c.1211C>T	NM_199292.2	NP_954986.2:p.(Thr404Met)	NC_000011.9:g.2186980G>A	(Likely) pathogenic	1 lab	09f3f0ff73
5:167915743 RARS1 T>C	5	167915743	167915743	T	C	RARS1	c.180+2T>C	NM_002887.4	NP_002878.2:p.?	NC_000005.9:g.167915743T>C	VUS	1 lab	0a280cf6c0
13:32912617 BRCA2 GGG>AAA	13	32912617	32912619	GGG	AAA	BRCA2	c.4125_4127delinsAAA	NM_000059.4	NP_000050.3:p.(Gly1376Lys)	NC_000013.10:g.32912617_32912619delinsAAA	(Likely) benign	1 lab	0a29e0a758
1:156104740 LMNA G>T	1	156104740	156104740	G	T	LMNA	c.784G>T	NM_170707.4	NP_733821.1:p.(Glu262Ter)	NC_000001.10:g.156104740G>T	(Likely) pathogenic	1 lab	0a327b4bba
1:22150795 LDLRAD2 C>T	1	22150795	22150795	C	T	LDLRAD2	c.*2087C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150795C>T	(Likely) benign	1 lab	0a84344fec
16:23635421 PALB2 TAAAAC>T	16	23635421	23635429	TAAAAC	T	PALB2	c.2749-11_2749-7del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635425_23635429del	(Likely) benign	1 lab	0a945287fc
7:73457006 ELN G>A	7	73457006	73457006	G	A	ELN	c.295G>A	NM_000501.4	NP_000492.2:p.(Ala99Thr)	NC_000007.13:g.73457006G>A	VUS	1 lab	0abd8c3be2
9:135947023 CEL G>A	9	135947023	135947023	G	A	CEL	c.2134G>A	NM_001807.6	NP_001798.3:p.(Ala712Thr)	NC_000009.11:g.135947023G>A	(Likely) benign	1 lab	0b3e59af46
15:89399396 ACAN G>A	15	89399396	89399396	G	A	ACAN	c.3580G>A	NM_001369268.1	NP_001356197.1:p.(Ala1194Thr)	NC_000015.9:g.89399396G>A	VUS	1 lab	0b5e7ab81c
2:128180746 PROC C>T	2	128180746	128180746	C	T	PROC	c.399C>T	NM_000312.4	NP_000303.1:p.(Arg133=)	NC_000002.11:g.128180746C>T	(Likely) benign	1 lab	0b76fe84ac
20:5966763 MCM8 A>G	20	5966763	5966763	A	G	MCM8	c.2149A>G	NM_032485.6	NP_115874.3:p.(Ile717Val)	NC_000020.10:g.5966763A>G	(Likely) benign	1 lab	0bd233feb5
9:118982329 PAPPA G>C	9	118982329	118982329	G	C	PAPPA	c.2032G>C	NM_002581.5	NP_002572.2:p.(Ala678Pro)	NC_000009.11:g.118982329G>C	(Likely) benign	1 lab	0c20011771
7:21639561 DNAH11 C>A	7	21639561	21639561	C	A	DNAH11	c.2824C>A	NM_001277115.2	NP_001264044.1:p.(Pro942Thr)	NC_000007.13:g.21639561C>A	VUS	1 lab	0c7abaa318
X:107938639 COL4A5 T>G	X	107938639	107938639	T	G	COL4A5	c.4964T>G	NM_033380.3	NP_203699.1:p.(Leu1655Arg)	NC_000023.10:g.107938639T>G	(Likely) pathogenic	1 lab	0c7db6f1f8
2:25966796 ASXL2 C>T	2	25966796	25966796	C	T	ASXL2	c.2410G>A	NM_018263.6	NP_060733.4:p.(Glu804Lys)	NC_000002.11:g.25966796C>T	VUS	1 lab	0d10840332
7:139717602 TBXAS1 A>C	7	139717602	139717602	A	C	TBXAS1	c.1496A>C	NM_001061.7	NP_001052.3:p.(Lys499Thr)	NC_000007.13:g.139717602A>C	VUS	1 lab	0d1b13cde5
1:169670758 SELL C>A	1	169670758	169670758	C	A	SELL	c.1024G>T	NM_000655.5	NP_000646.3:p.(Val342Phe)	NC_000001.10:g.169670758C>A	VUS	1 lab	0d1b85efd5
2:48033791 MSH6 G>C	2	48033791	48033791	G	C	MSH6	c.4001+1G>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033791G>C	(Likely) pathogenic	1 lab	0d1deb2365
2:32366975 SPAST G>GT	2	32366975	32366978	G	GT	SPAST	c.1499dup	NM_014946.3	NP_055761.2:p.(Ile501HisfsTer11)	NC_000002.11:g.32366978dup	(Likely) pathogenic	1 lab	0d6380a79d
11:75277974 SERPINH1 C>A	11	75277974	75277974	C	A	SERPINH1	c.580C>A	NM_001235.5	NP_001226.2:p.(Arg194Ser)	NC_000011.9:g.75277974C>A	VUS	1 lab	0d9a229a35
3:49570215 DAG1 C>T	3	49570215	49570215	C	T	DAG1	c.2271C>T	NM_004393.6	NP_004384.5:p.(Ala757=)	NC_000003.11:g.49570215C>T	(Likely) benign	1 lab	0dfe4925af
15:90220656 PLIN1 G>A	15	90220656	90220656	G	A	PLIN1	c.45+20C>T	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90220656G>A	(Likely) benign	1 lab	0e64591c60
6:129612765 LAMA2 G>T	6	129612765	129612765	G	T	LAMA2	c.2756G>T	NM_000426.4	NP_000417.3:p.(Arg919Leu)	NC_000006.11:g.129612765G>T	(Likely) benign	1 lab	0ed64dee5e
11:129775542 PRDM10 C>T	11	129775542	129775542	C	T	PRDM10	c.3258G>A	NM_199437.2	NP_955469.1:p.(Ala1086=)	NC_000011.9:g.129775542C>T	(Likely) benign	1 lab	0f0ceb3452
15:90320496 MESP2 T>C	15	90320496	90320496	T	C	MESP2	c.908T>C	NM_001039958.2	NP_001035047.1:p.(Leu303Pro)	NC_000015.9:g.90320496T>C	(Likely) benign	1 lab	0f27525913
11:6415746 SMPD1 G>A	11	6415746	6415746	G	A	SMPD1	c.1805G>A	NM_000543.5	NP_000534.3:p.(Arg602His)	NC_000011.9:g.6415746G>A	(Likely) pathogenic	1 lab	0f375bf469
6:42931261 GNMT C>G	6	42931261	42931261	C	G	GNMT	c.717-12C>G	NM_018960.6	NP_061833.1:p.?	NC_000006.11:g.42931261C>G	(Likely) benign	1 lab	0f755a32b0
4:170600006 CLCN3 C>T	4	170600006	170600006	C	T	CLCN3	c.161-1195C>T	NM_001829.4	NP_001820.2:p.?	NC_000004.11:g.170600006C>T	VUS	1 lab	1004dc1b79
7:6043387 PMS2 G>A	7	6043387	6043387	G	A	PMS2	c.287C>T	NM_000535.7	NP_000526.2:p.(Ala96Val)	NC_000007.13:g.6043387G>A	VUS	1 lab	1019ca0477
4:73956770 ANKRD17 G>A	4	73956770	73956770	G	A	ANKRD17	c.6236C>T	NM_001286771.3	NP_001273700.1:p.(Ser2079Leu)	NC_000004.11:g.73956770G>A	VUS	1 lab	102d541e6f
7:2962934 CARD11 G>T	7	2962934	2962934	G	T	CARD11	c.1974C>A	NM_032415.7	NP_115791.3:p.(His658Gln)	NC_000007.13:g.2962934G>T	VUS	1 lab	10330d8ef7
13:28498683 PDX1 G>T	13	28498683	28498683	G	T	PDX1	c.697G>T	NM_000209.4	NP_000200.1:p.(Glu233Ter)	NC_000013.10:g.28498683G>T	VUS	1 lab	10358d6923
3:81691955 GBE1 A>G	3	81691955	81691955	A	G	GBE1	c.969T>C	NM_000158.4	NP_000149.4:p.(Asp323=)	NC_000003.11:g.81691955A>G	(Likely) benign	1 lab	1059390060
8:144999069 PLEC G>A	8	144999069	144999069	G	A	PLEC	c.5028C>T	NM_201384.3	NP_958786.1:p.(Arg1676=)	NC_000008.10:g.144999069G>A	(Likely) benign	1 lab	107aa9e56d
19:15296443 NOTCH3 C>A	19	15296443	15296443	C	A	NOTCH3	c.1999G>T	NM_000435.3	NP_000426.2:p.(Gly667Cys)	NC_000019.9:g.15296443C>A	(Likely) pathogenic	1 lab	1084d2fe8a
2:220422209 OBSL1 G>A	2	220422209	220422209	G	A	OBSL1	c.3922C>T	NM_015311.3	NP_056126.1:p.(Arg1308Ter)	NC_000002.11:g.220422209G>A	VUS	1 lab	10a8cadd2c
21:47546390 COL6A2 T>TGGCCCGGCCCGGCCCGGCCC	21	47546390	47546400	T	TGGCCCGGCCCGGCCCGGCCC	COL6A2	c.2423-18_2423-17insCGGCCCGGCCCGGCCCGGCC	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47546399_47546400insCGGCCCGGCCCGGCCCGGCC	(Likely) benign	1 lab	1172f30156
9:135946855 CEL G>C	9	135946855	135946855	G	C	CEL	c.1966G>C	NM_001807.6	NP_001798.3:p.(Ala656Pro)	NC_000009.11:g.135946855G>C	(Likely) benign	1 lab	1182224300
7:148525834 EZH2 T>C	7	148525834	148525834	T	C	EZH2	c.623A>G	NM_004456.5	NP_004447.2:p.(Asp208Gly)	NC_000007.13:g.148525834T>C	(Likely) benign	1 lab	11b8fa6f02
9:21974859 CDKN2A C>G	9	21974859	21974859	C	G	CDKN2A	c.-33G>C	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21974859C>G	(Likely) benign	1 lab	11c5c98df2
19:7125519 INSR G>A	19	7125519	7125519	G	A	INSR	c.3033C>T	NM_000208.4	NP_000199.2:p.(Tyr1011=)	NC_000019.9:g.7125519G>A	(Likely) benign	1 lab	120cd07794
1:27056224 ARID1A C>G	1	27056224	27056224	C	G	ARID1A	c.1220C>G	NM_006015.6	NP_006006.3:p.(Pro407Arg)	NC_000001.10:g.27056224C>G	VUS	1 lab	127f26bf99
17:61995101 GH1 C>A	17	61995101	61995101	C	A	GH1	c.456+19G>T	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995101C>A	(Likely) benign	1 lab	1287c49339
16:1614057 IFT140 G>A	16	1614057	1614057	G	A	IFT140	c.2008C>T	NM_014714.4	NP_055529.2:p.(Pro670Ser)	NC_000016.9:g.1614057G>A	(Likely) benign	1 lab	131bd51381
17:79478939 ACTG1 T>A	17	79478939	79478939	T	A	ACTG1	c.353A>T	NM_001614.3	NP_001605.1:p.(Lys118Met)	NC_000017.10:g.79478939T>A	(Likely) pathogenic	1 lab	1341f4ed36
X:18671566 RS1 G>A	X	18671566	18671566	G	A	RS1	c.184+3207C>T	NM_000330.4	NP_000321.1:p.?	NC_000023.10:g.18671566G>A	(Likely) benign	1 lab	13434a22b9
5:79970914 MSH3 CA>C	5	79970914	79970922	CA	C	MSH3	c.1148del	NM_002439.5	NP_002430.3:p.(Lys383ArgfsTer32)	NC_000005.9:g.79970922del	(Likely) pathogenic	1 lab	1362959dff
2:54876789 SPTBN1 C>G	2	54876789	54876789	C	G	SPTBN1	c.5240C>G	NM_003128.3	NP_003119.2:p.(Thr1747Ser)	NC_000002.11:g.54876789C>G	(Likely) benign	1 lab	136e8d61c0
16:89351744 ANKRD11 C>T	16	89351744	89351744	C	T	ANKRD11	c.1206G>A	NM_013275.6	NP_037407.4:p.(Ala402=)	NC_000016.9:g.89351744C>T	(Likely) benign	1 lab	137c4999dc
3:126708547 PLXNA1 G>A	3	126708547	126708547	G	A	PLXNA1	c.1111G>A	NM_032242.4	NP_115618.3:p.(Glu371Lys)	NC_000003.11:g.126708547G>A	VUS	1 lab	1394696a8f
17:64641554 PRKCA G>A	17	64641554	64641554	G	A	PRKCA	c.454G>A	NM_002737.3	NP_002728.2:p.(Gly152Arg)	NC_000017.10:g.64641554G>A	VUS	1 lab	1397bb8573
20:43048434 HNF4A C>T	20	43048434	43048434	C	T	HNF4A	c.810C>T	NM_000457.5	NP_000448.3:p.(Asp270=)	NC_000020.10:g.43048434C>T	(Likely) benign	1 lab	13a8b59d83
7:92735188 SAMD9 G>A	7	92735188	92735188	G	A	SAMD9	c.223C>T	NM_017654.4	NP_060124.2:p.(Arg75Trp)	NC_000007.13:g.92735188G>A	(Likely) benign	1 lab	13c6606ecf
X:135278975 FHL1 T>C	X	135278975	135278975	T	C	FHL1	c.-26-9591T>C	NM_001159700.1	NP_001153172.1:p.?	NC_000023.10:g.135278975T>C	VUS	1 lab	13da67e9c4
13:111109618 COL4A2 G>GATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC	13	111109618	111109669	G	GATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC	COL4A2	c.1340-62_1340-21dup	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109628_111109669dup	(Likely) benign	1 lab	142747fc22
3:37067095 MLH1 ATATAT>A	3	37067095	37067101	ATATAT	A	MLH1	c.1039-31_1039-27del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067101del	(Likely) benign	1 lab	1430f5e67f
11:1466684 BRSK2 G>A	11	1466684	1466684	G	A	BRSK2	c.973G>A	NM_001256627.2	NP_001243556.1:p.(Glu325Lys)	NC_000011.9:g.1466684G>A	VUS	1 lab	143d3a72bb
19:39230783 CAPN12 C>T	19	39230783	39230783	C	T	CAPN12	c.637G>A	NM_144691.4	NP_653292.2:p.(Glu213Lys)	NC_000019.9:g.39230783C>T	VUS	1 lab	147f17b609
20:31388737 DNMT3B C>T	20	31388737	31388737	C	T	DNMT3B	c.1996+6C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31388737C>T	(Likely) benign	1 lab	148b38afcf
2:223918019 KCNE4 G>A	2	223918019	223918019	G	A	KCNE4	c.471G>A	NM_080671.4	NP_542402.4:p.(Glu157=)	NC_000002.11:g.223918019G>A	(Likely) benign	1 lab	14c5d168b6
1:32797802 HDAC1 A>G	1	32797802	32797802	A	G	HDAC1	c.1331A>G	NM_004964.3	NP_004955.2:p.(Lys444Arg)	NC_000001.10:g.32797802A>G	VUS	1 lab	14cd2434dd
10:27368038 ANKRD26 C>T	10	27368038	27368038	C	T	ANKRD26	c.793G>A	NM_014915.3	NP_055730.2:p.(Asp265Asn)	NC_000010.10:g.27368038C>T	(Likely) benign	1 lab	15218cf4bd
6:117198500 RFX6 C>A	6	117198500	117198500	C	A	RFX6	c.62C>A	NM_173560.4	NP_775831.2:p.(Ser21Tyr)	NC_000006.11:g.117198500C>A	(Likely) benign	1 lab	15270a1a03
2:238243535 COL6A3 G>T	2	238243535	238243535	G	T	COL6A3	c.8966-3C>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238243535G>T	VUS	1 lab	153fef4a87
15:91312406 BLM A>G	15	91312406	91312406	A	G	BLM	c.2351A>G	NM_000057.4	NP_000048.1:p.(Tyr784Cys)	NC_000015.9:g.91312406A>G	VUS	1 lab	1547ab4844
13:32968871 BRCA2 T>G	13	32968871	32968871	T	G	BRCA2	c.9302T>G	NM_000059.4	NP_000050.3:p.(Leu3101Arg)	NC_000013.10:g.32968871T>G	(Likely) pathogenic	1 lab	15540e92ad
21:47556900 FTCD G>A	21	47556900	47556900	G	A	FTCD	c.*1C>T	NM_206965.2	NP_996848.1:p.?	NC_000021.8:g.47556900G>A	VUS	1 lab	1573a9582f
9:2076255 SMARCA2 G>A	9	2076255	2076255	G	A	SMARCA2	c.1962G>A	NM_003070.5	NP_003061.3:p.(Gln654=)	NC_000009.11:g.2076255G>A	(Likely) benign	1 lab	15951c8fa0
11:2185556 TH G>A	11	2185556	2185556	G	A	TH	c.1401C>T	NM_000360.4	NP_000351.2:p.(Asp467=)	NC_000011.9:g.2185556G>A	(Likely) benign	1 lab	15a7949dcc
16:89349527 ANKRD11 G>A	16	89349527	89349527	G	A	ANKRD11	c.3423C>T	NM_013275.6	NP_037407.4:p.(Ser1141=)	NC_000016.9:g.89349527G>A	(Likely) benign	1 lab	160b540a47
11:17428163 ABCC8 G>A	11	17428163	17428163	G	A	ABCC8	c.3329+6C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17428163G>A	(Likely) benign	1 lab	1630ee7689
2:219920307 IHH C>T	2	219920307	219920307	C	T	IHH	c.858G>A	NM_002181.4	NP_002172.2:p.(Pro286=)	NC_000002.11:g.219920307C>T	(Likely) benign	1 lab	163c812480
6:29638515 MOG CTGTTA>C	6	29638515	29638521	CTGTTA	C	MOG	c.730+19_730+23del	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29638517_29638521del	(Likely) benign	1 lab	164c53d618
7:107350570 SLC26A4 A>G	7	107350570	107350570	A	G	SLC26A4	c.2161A>G	NM_000441.1	NP_000432.1:p.(Thr721Ala)	NC_000007.13:g.107350570A>G	(Likely) pathogenic	1 lab	165d368fe2
16:70698611 MTSS2 C>T	16	70698611	70698611	C	T	MTSS2	c.1361G>A	NM_138383.3	NP_612392.1:p.(Gly454Asp)	NC_000016.9:g.70698611C>T	VUS	1 lab	1665c0d659
3:47050858 NBEAL2 C>G	3	47050858	47050858	C	G	NBEAL2	c.*48C>G	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47050858C>G	(Likely) benign	1 lab	167784e802
1:43817977 MPL G>A	1	43817977	43817977	G	A	MPL	c.1653+3G>A	NM_005373.3	NP_005364.1:p.?	NC_000001.10:g.43817977G>A	(Likely) benign	1 lab	16beead40d
19:12918043 RNASEH2A G>C	19	12918043	12918043	G	C	RNASEH2A	c.223G>C	NM_006397.3	NP_006388.2:p.(Glu75Gln)	NC_000019.9:g.12918043G>C	VUS	1 lab	16d596133d
1:36937878 CSF3R C>T	1	36937878	36937878	C	T	CSF3R	c.958G>A	NM_000760.4	NP_000751.1:p.(Asp320Asn)	NC_000001.10:g.36937878C>T	(Likely) benign	1 lab	1706a5dfec
8:145004237 PLEC G>T	8	145004237	145004237	G	T	PLEC	c.2613-7C>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145004237G>T	(Likely) benign	1 lab	172a88a16e
15:99434777 IGF1R C>T	15	99434777	99434777	C	T	IGF1R	c.864C>T	NM_000875.5	NP_000866.1:p.(Ala288=)	NC_000015.9:g.99434777C>T	(Likely) benign	1 lab	1731e43852
1:152278844 FLG T>G	1	152278844	152278844	T	G	FLG	c.8518A>C	NM_002016.2	NP_002007.1:p.(Thr2840Pro)	NC_000001.10:g.152278844T>G	(Likely) benign	1 lab	1781722146
15:89401783 ACAN C>T	15	89401783	89401783	C	T	ACAN	c.5967C>T	NM_001369268.1	NP_001356197.1:p.(Ser1989=)	NC_000015.9:g.89401783C>T	(Likely) benign	1 lab	1792b51d47
16:774734 CCDC78 T>G	16	774734	774734	T	G	CCDC78	c.712A>C	NM_001378030.1	NP_001364959.1:p.(Lys238Gln)	NC_000016.9:g.774734T>G	(Likely) benign	1 lab	17c1a8dcd9
14:51223460 NIN T>A	14	51223460	51223460	T	A	NIN	c.4288A>T	NM_020921.4	NP_065972.4:p.(Ile1430Leu)	NC_000014.8:g.51223460T>A	(Likely) benign	1 lab	18323c1db8
2:152536427 NEB C>T	2	152536427	152536427	C	T	NEB	c.3147+5G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152536427C>T	(Likely) benign	1 lab	1849d6bbbf
20:60831112 OSBPL2 G>C	20	60831112	60831112	G	C	OSBPL2	c.-128-1G>C	NM_144498.4	NP_653081.1:p.?	NC_000020.10:g.60831112G>C	VUS	1 lab	18b19a8de9
15:99491809 IGF1R C>T	15	99491809	99491809	C	T	IGF1R	c.3594C>T	NM_000875.5	NP_000866.1:p.(Phe1198=)	NC_000015.9:g.99491809C>T	(Likely) benign	1 lab	18baaabef7
22:18640540 USP18 A>G	22	18640540	18640540	A	G	USP18	c.110A>G	NM_017414.4	NP_059110.2:p.(Lys37Arg)	NC_000022.10:g.18640540A>G	(Likely) benign	1 lab	18dace0d93
12:132416813 PUS1 G>A	12	132416813	132416813	G	A	PUS1	c.397G>A	NM_025215.6	NP_079491.2:p.(Asp133Asn)	NC_000012.11:g.132416813G>A	(Likely) benign	1 lab	18db63a37c
17:71204547 VCF1 C>G	17	71204547	71204547	C	G	VCF1	c.*1121G>C	NM_001098832.2	NP_001092302.1:p.?	NC_000017.10:g.71204547C>G	(Likely) benign	1 lab	1909bbfb6a
21:44473972 CBS C>T	21	44473972	44473972	C	T	CBS	c.*18G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44473972C>T	(Likely) benign	1 lab	1969cc5479
7:139652440 TBXAS1 C>T	7	139652440	139652440	C	T	TBXAS1	c.451-727C>T	NM_001061.7	NP_001052.3:p.?	NC_000007.13:g.139652440C>T	(Likely) benign	1 lab	1972ea51e7
21:47546390 COL6A2 T>TGGCCC	21	47546390	47546399	T	TGGCCC	COL6A2	c.2423-22_2423-18dup	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47546395_47546399dup	(Likely) benign	1 lab	1975fdc110
5:112176036 APC C>T	5	112176036	112176036	C	T	APC	c.4745C>T	NM_000038.6	NP_000029.2:p.(Ala1582Val)	NC_000005.9:g.112176036C>T	VUS	1 lab	198694074e
19:4818378 TICAM1 T>C	19	4818378	4818378	T	C	TICAM1	c.12A>G	NM_182919.4	NP_891549.1:p.(Thr4=)	NC_000019.9:g.4818378T>C	(Likely) benign	1 lab	1a2a905ded
13:28494372 PDX1 C>A	13	28494372	28494372	C	A	PDX1	c.97C>A	NM_000209.4	NP_000200.1:p.(Pro33Thr)	NC_000013.10:g.28494372C>A	(Likely) benign	1 lab	1a4b422dde
12:115112055 TBX3 G>A	12	115112055	115112055	G	A	TBX3	c.1625C>T	NM_005996.4	NP_005987.3:p.(Ala542Val)	NC_000012.11:g.115112055G>A	(Likely) benign	1 lab	1a56e89b87
14:75052569 LTBP2 G>A	14	75052569	75052569	G	A	LTBP2	c.818C>T	NM_000428.3	NP_000419.1:p.(Ser273Leu)	NC_000014.8:g.75052569G>A	(Likely) benign	1 lab	1a61d2e701
15:99452067 IGF1R G>A	15	99452067	99452067	G	A	IGF1R	c.1401G>A	NM_000875.5	NP_000866.1:p.(Gly467=)	NC_000015.9:g.99452067G>A	(Likely) benign	1 lab	1a631875e3
12:44161948 IRAK4 C>T	12	44161948	44161948	C	T	IRAK4	c.34C>T	NM_016123.4	NP_057207.2:p.(Arg12Cys)	NC_000012.11:g.44161948C>T	(Likely) pathogenic	1 lab	1a643bdc49
X:76937098 ATRX C>G	X	76937098	76937098	C	G	ATRX	c.3650G>C	NM_000489.6	NP_000480.3:p.(Gly1217Ala)	NC_000023.10:g.76937098C>G	VUS	1 lab	1b23ab8fff
1:24194770 FUCA1 C>G	1	24194770	24194770	C	G	FUCA1	c.7G>C	NM_000147.5	NP_000138.2:p.(Ala3Pro)	NC_000001.10:g.24194770C>G	(Likely) benign	1 lab	1bec202081
2:220421320 OBSL1 C>T	2	220421320	220421320	C	T	OBSL1	c.4192G>A	NM_015311.3	NP_056126.1:p.(Val1398Ile)	NC_000002.11:g.220421320C>T	(Likely) benign	1 lab	1c0c67f9ca
17:48266669 COL1A1 G>C	17	48266669	48266669	G	C	COL1A1	c.2830-33C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266669G>C	(Likely) benign	1 lab	1c163b40cf
12:108956408 ISCU G>C	12	108956408	108956408	G	C	ISCU	c.10G>C	NM_213595.4	NP_998760.1:p.(Ala4Pro)	NC_000012.11:g.108956408G>C	(Likely) benign	1 lab	1c1fc482b0
15:63354772 TPM1 C>T	15	63354772	63354772	C	T	TPM1	c.703-3C>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63354772C>T	VUS	1 lab	1c7a8886e2
12:48391657 COL2A1 T>A	12	48391657	48391657	T	A	COL2A1	c.426A>T	NM_001844.5	NP_001835.3:p.(Glu142Asp)	NC_000012.11:g.48391657T>A	(Likely) benign	1 lab	1cd61c23cc
17:41836082 SOST C>T	17	41836082	41836082	C	T	SOST	c.28G>A	NM_025237.3	NP_079513.1:p.(Val10Ile)	NC_000017.10:g.41836082C>T	(Likely) benign	1 lab	1d0167128a
15:42693950 CAPN3 G>A	15	42693950	42693950	G	A	CAPN3	c.1466G>A	NM_000070.3	NP_000061.1:p.(Arg489Gln)	NC_000015.9:g.42693950G>A	(Likely) pathogenic	1 lab	1d0bf642b9
4:88929495 PKD2 C>T	4	88929495	88929495	C	T	PKD2	c.595+15C>T	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88929495C>T	(Likely) benign	1 lab	1d40364a9a
2:238451260 MLPH G>C	2	238451260	238451260	G	C	MLPH	c.1497G>C	NM_024101.7	NP_077006.1:p.(Thr499=)	NC_000002.11:g.238451260G>C	(Likely) benign	1 lab	1d49752a34
16:2150564 PKD1 G>A	16	2150564	2150564	G	A	PKD1	c.9401C>T	NM_001009944.3	NP_001009944.3:p.(Thr3134Ile)	NC_000016.9:g.2150564G>A	VUS	1 lab	1d4aa91531
7:124569916 POT1 G>A	7	124569916	124569916	G	A	POT1	c.-742C>T	NM_001042594.1	NP_001036059.1:p.?	NC_000007.13:g.124569916G>A	(Likely) benign	1 lab	1d8a710880
3:126222856 UROC1 C>T	3	126222856	126222856	C	T	UROC1	c.884G>A	NM_144639.3	NP_653240.1:p.(Arg295His)	NC_000003.11:g.126222856C>T	(Likely) benign	1 lab	1d9ee84a20
13:111143681 COL4A2 C>A	13	111143681	111143681	C	A	COL4A2	c.3448C>A	NM_001846.4	NP_001837.2:p.(Gln1150Lys)	NC_000013.10:g.111143681C>A	(Likely) benign	1 lab	1dca5b4244
6:117243181 RFX6 C>CTT	6	117243181	117243195	C	CTT	RFX6	c.1328-11_1328-10dup	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243194_117243195dup	(Likely) benign	1 lab	1dd05986d0
2:206605378 NRP2 C>T	2	206605378	206605378	C	T	NRP2	c.1282C>T	NM_003872.3	NP_003863.2:p.(Arg428Trp)	NC_000002.11:g.206605378C>T	VUS	1 lab	1de4c648e2
3:37045899 MLH1 C>T	3	37045899	37045899	C	T	MLH1	c.314C>T	NM_000249.4	NP_000240.1:p.(Ala105Val)	NC_000003.11:g.37045899C>T	VUS	1 lab	1e011538d5
19:41847860 TGFB1 G>A	19	41847860	41847860	G	A	TGFB1	c.788C>T	NM_000660.7	NP_000651.3:p.(Thr263Ile)	NC_000019.9:g.41847860G>A	(Likely) benign	1 lab	1e019a6687
2:179452755 TTN G>A	2	179452755	179452755	G	A	TTN	c.63379C>T	NM_001267550.2	NP_001254479.2:p.(Arg21127Cys)	NC_000002.11:g.179452755G>A	VUS	1 lab	1e13a666db
10:85970790 CDHR1 T>G	10	85970790	85970790	T	G	CDHR1	c.1354T>G	NM_033100.4	NP_149091.1:p.(Phe452Val)	NC_000010.10:g.85970790T>G	VUS	1 lab	1e247b2520
17:59885923 BRIP1 T>C	17	59885923	59885923	T	C	BRIP1	c.823A>G	NM_032043.3	NP_114432.2:p.(Ile275Val)	NC_000017.10:g.59885923T>C	VUS	1 lab	1e5162fe3d
15:89417080 ACAN C>T	15	89417080	89417080	C	T	ACAN	c.7455C>T	NM_001369268.1	NP_001356197.1:p.(Cys2485=)	NC_000015.9:g.89417080C>T	(Likely) benign	1 lab	1e5cacaf6f
8:11405623 BLK G>A	8	11405623	11405623	G	A	BLK	c.258G>A	NM_001715.3	NP_001706.2:p.(Gln86=)	NC_000008.10:g.11405623G>A	(Likely) benign	1 lab	1edbabbd9a
7:31018852 GHRHR T>C	7	31018852	31018852	T	C	GHRHR	c.1265T>C	NM_000823.4	NP_000814.2:p.(Met422Thr)	NC_000007.13:g.31018852T>C	(Likely) benign	1 lab	1f2b602295
6:117250119 RFX6 C>T	6	117250119	117250119	C	T	RFX6	c.2596C>T	NM_173560.4	NP_775831.2:p.(Arg866Ter)	NC_000006.11:g.117250119C>T	VUS	1 lab	1f5351e310
7:92763720 SAMD9L G>A	7	92763720	92763720	G	A	SAMD9L	c.1565C>T	NM_152703.5	NP_689916.2:p.(Ala522Val)	NC_000007.13:g.92763720G>A	(Likely) benign	1 lab	1ff4b0919e
21:27484474 APP A>C	21	27484474	27484474	A	C	APP	c.58-11T>G	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27484474A>C	VUS	1 lab	208076521a
19:50752376 MYH14 G>A	19	50752376	50752376	G	A	MYH14	c.1462G>A	NM_001145809.2	NP_001139281.1:p.(Ala488Thr)	NC_000019.9:g.50752376G>A	VUS	1 lab	20a7414e50
1:52867839 ORC1 C>G	1	52867839	52867839	C	G	ORC1	c.57G>C	NM_004153.4	NP_004144.2:p.(Arg19Ser)	NC_000001.10:g.52867839C>G	(Likely) benign	1 lab	20cbfae284
16:2158022 PKD1 G>A	16	2158022	2158022	G	A	PKD1	c.6927C>T	NM_001009944.3	NP_001009944.3:p.(Gly2309=)	NC_000016.9:g.2158022G>A	(Likely) benign	1 lab	20e5a87efe
14:23896827 MYH7 T>C	14	23896827	23896827	T	C	MYH7	c.1855A>G	NM_000257.4	NP_000248.2:p.(Thr619Ala)	NC_000014.8:g.23896827T>C	VUS	1 lab	20f8c1188e
17:61995251 GH1 T>G	17	61995251	61995251	T	G	GH1	c.325A>C	NM_000515.5	NP_000506.2:p.(Ile109Leu)	NC_000017.10:g.61995251T>G	(Likely) benign	1 lab	20ffbf8006
9:135947001 CEL C>G	9	135947001	135947001	C	G	CEL	c.2112C>G	NM_001807.6	NP_001798.3:p.(Thr704=)	NC_000009.11:g.135947001C>G	(Likely) benign	1 lab	2102785586
9:135946920 CEL G>GC	9	135946920	135946929	G	GC	CEL	c.2040dup	NM_001807.6	NP_001798.3:p.(Val681ArgfsTer6)	NC_000009.11:g.135946929dup	(Likely) benign	1 lab	210743d090
12:65856933 MSRB3 A>G	12	65856933	65856933	A	G	MSRB3	c.391-2A>G	NM_001031679.3	NP_001026849.1:p.?	NC_000012.11:g.65856933A>G	(Likely) pathogenic	1 lab	212253965d
20:61464375 COL9A3 A>G	20	61464375	61464375	A	G	COL9A3	c.1327A>G	NM_001853.4	NP_001844.3:p.(Ile443Val)	NC_000020.10:g.61464375A>G	(Likely) benign	1 lab	212fc08968
15:89386752 ACAN C>G	15	89386752	89386752	C	G	ACAN	c.924C>G	NM_001369268.1	NP_001356197.1:p.(Arg308=)	NC_000015.9:g.89386752C>G	(Likely) benign	1 lab	21308d482d
12:6062777 VWF A>G	12	6062777	6062777	A	G	VWF	c.7888-17T>C	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6062777A>G	(Likely) benign	1 lab	215085318d
12:6172220 VWF C>T	12	6172220	6172220	C	T	VWF	c.1433G>A	NM_000552.5	NP_000543.3:p.(Gly478Asp)	NC_000012.11:g.6172220C>T	VUS	1 lab	216525f3e4
10:89468953 PAPSS2 G>A	10	89468953	89468953	G	A	PAPSS2	c.28G>A	NM_001015880.2	NP_001015880.1:p.(Glu10Lys)	NC_000010.10:g.89468953G>A	(Likely) benign	1 lab	216bc62165
7:103322707 RELN T>C	7	103322707	103322707	T	C	RELN	c.1145A>G	NM_005045.4	NP_005036.2:p.(His382Arg)	NC_000007.13:g.103322707T>C	VUS	1 lab	21f1668a13
11:72145308 CLPB C>A	11	72145308	72145308	C	A	CLPB	c.211G>T	NM_001258392.3	NP_001245321.1:p.(Gly71Trp)	NC_000011.9:g.72145308C>A	VUS	1 lab	222a533506
22:20080316 DGCR8 T>G	22	20080316	20080316	T	G	DGCR8	c.1607-16T>G	NM_022720.7	NP_073557.3:p.?	NC_000022.10:g.20080316T>G	(Likely) benign	1 lab	2284d7c277
2:96919780 TMEM127 ATGC>A	2	96919780	96919794	ATGC	A	TMEM127	c.480_482del	NM_017849.4	NP_060319.1:p.(Gln160del)	NC_000002.11:g.96919792_96919794del	VUS	1 lab	22c67d84ba
2:127818194 BIN1 G>A	2	127818194	127818194	G	A	BIN1	c.858-1463C>T	NM_139343.3	NP_647593.1:p.?	NC_000002.11:g.127818194G>A	(Likely) benign	1 lab	22ebf59dcf
20:43058283 HNF4A T>G	20	43058283	43058283	T	G	HNF4A	c.1403T>G	NM_000457.5	NP_000448.3:p.(Ile468Ser)	NC_000020.10:g.43058283T>G	VUS	1 lab	23600ac7dd
7:40134119 CDK13 C>T	7	40134119	40134119	C	T	CDK13	c.4079C>T	NM_003718.5	NP_003709.3:p.(Ala1360Val)	NC_000007.13:g.40134119C>T	VUS	1 lab	23ce60e60c
2:182542998 NEUROD1 G>T	2	182542998	182542998	G	T	NEUROD1	c.590C>A	NM_002500.5	NP_002491.3:p.(Pro197His)	NC_000002.11:g.182542998G>T	(Likely) benign	1 lab	245a7a0b8d
4:1803208 FGFR3 C>A	4	1803208	1803208	C	A	FGFR3	c.560C>A	NM_000142.5	NP_000133.1:p.(Ser187Tyr)	NC_000004.11:g.1803208C>A	VUS	1 lab	245b057ca7
17:78091482 GAA G>A	17	78091482	78091482	G	A	GAA	c.2415G>A	NM_000152.5	NP_000143.2:p.(Val805=)	NC_000017.10:g.78091482G>A	(Likely) benign	1 lab	24612007ae
17:29326155 RNF135 G>T	17	29326155	29326155	G	T	RNF135	c.1245G>T	NM_032322.4	NP_115698.3:p.(Trp415Cys)	NC_000017.10:g.29326155G>T	(Likely) benign	1 lab	2470741064
5:236617 SDHA G>T	5	236617	236617	G	T	SDHA	c.1335G>T	NM_004168.4	NP_004159.2:p.(Ser445=)	NC_000005.9:g.236617G>T	(Likely) benign	1 lab	68ab5a3a93
17:41256121 BRCA1 GA>G	17	41256121	41256125	GA	G	BRCA1	c.441+17del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256125del	(Likely) benign	1 lab	248e1f3ddc
9:134379683 POMT1 G>A	9	134379683	134379683	G	A	POMT1	c.78G>A	NM_001077365.2	NP_001070833.1:p.(Gly26=)	NC_000009.11:g.134379683G>A	(Likely) benign	1 lab	24acf15257
4:186336424 UFSP2 C>G	4	186336424	186336424	C	G	UFSP2	c.569G>C	NM_018359.5	NP_060829.2:p.(Gly190Ala)	NC_000004.11:g.186336424C>G	VUS	1 lab	24c983ab03
2:179629477 TTN AG>A	2	179629477	179629479	AG	A	TTN	c.9764del	NM_001267550.2	NP_001254479.2:p.(Pro3255LeufsTer7)	NC_000002.11:g.179629479del	(Likely) pathogenic	1 lab	25300b1749
22:36684411 MYH9 T>C	22	36684411	36684411	T	C	MYH9	c.4819A>G	NM_002473.6	NP_002464.1:p.(Met1607Val)	NC_000022.10:g.36684411T>C	VUS	1 lab	253b17c708
2:48025982 MSH6 G>A	2	48025982	48025982	G	A	MSH6	c.860G>A	NM_000179.3	NP_000170.1:p.(Ser287Asn)	NC_000002.11:g.48025982G>A	VUS	1 lab	254294b893
15:42652065 CAPN3 G>A	15	42652065	42652065	G	A	CAPN3	c.62G>A	NM_000070.3	NP_000061.1:p.(Gly21Glu)	NC_000015.9:g.42652065G>A	(Likely) benign	1 lab	257d08d52d
14:74978010 LTBP2 G>C	14	74978010	74978010	G	C	LTBP2	c.2966C>G	NM_000428.3	NP_000419.1:p.(Pro989Arg)	NC_000014.8:g.74978010G>C	(Likely) benign	1 lab	259b4ca131
16:2161032 PKD1 T>A	16	2161032	2161032	T	A	PKD1	c.4136A>T	NM_001009944.3	NP_001009944.3:p.(Glu1379Val)	NC_000016.9:g.2161032T>A	VUS	1 lab	25aa648a9d
7:139715581 TBXAS1 G>A	7	139715581	139715581	G	A	TBXAS1	c.1285G>A	NM_001061.7	NP_001052.3:p.(Ala429Thr)	NC_000007.13:g.139715581G>A	(Likely) benign	1 lab	25c1628433
15:89399510 ACAN G>A	15	89399510	89399510	G	A	ACAN	c.3694G>A	NM_001369268.1	NP_001356197.1:p.(Ala1232Thr)	NC_000015.9:g.89399510G>A	(Likely) benign	1 lab	25c3c23cee
12:6127653 VWF C>T	12	6127653	6127653	C	T	VWF	c.4931G>A	NM_000552.5	NP_000543.3:p.(Trp1644Ter)	NC_000012.11:g.6127653C>T	(Likely) pathogenic	1 lab	25d8ab5d07
12:112856920 PTPN11 C>T	12	112856920	112856920	C	T	PTPN11	c.5C>T	NM_002834.5	NP_002825.3:p.(Thr2Ile)	NC_000012.11:g.112856920C>T	(Likely) pathogenic	1 lab	262c50eae0
2:26418053 HADHA C>G	2	26418053	26418053	C	G	HADHA	c.1528G>C	NM_000182.5	NP_000173.2:p.(Glu510Gln)	NC_000002.11:g.26418053C>G	(Likely) pathogenic	1 lab	265ec42b1c
19:13220820 TRMT1 G>T	19	13220820	13220820	G	T	TRMT1	c.1020-5C>A	NM_001136035.4	NP_001129507.1:p.?	NC_000019.9:g.13220820G>T	VUS	1 lab	26a2b9332e
16:2140262 PKD1 T>TC	16	2140262	2140269	T	TC	PKD1	c.12444+23dup	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140269dup	(Likely) benign	1 lab	270661c026
4:178352880 AGA T>C	4	178352880	178352880	T	C	AGA	c.1023A>G	NM_000027.4	NP_000018.2:p.(Glu341=)	NC_000004.11:g.178352880T>C	(Likely) benign	1 lab	2756e67bee
14:94173138 UNC79 A>G	14	94173138	94173138	A	G	UNC79	c.8012A>G	NM_001395159.1	NP_001382088.1:p.(Gln2671Arg)	NC_000014.8:g.94173138A>G	VUS	1 lab	276e314037
19:15302585 NOTCH3 T>C	19	15302585	15302585	T	C	NOTCH3	c.773A>G	NM_000435.3	NP_000426.2:p.(Tyr258Cys)	NC_000019.9:g.15302585T>C	(Likely) pathogenic	1 lab	279c806eb3
20:18506512 SEC23B C>T	20	18506512	18506512	C	T	SEC23B	c.770C>T	NM_006363.6	NP_006354.2:p.(Thr257Ile)	NC_000020.10:g.18506512C>T	(Likely) benign	1 lab	27b9a4bb31
20:57415455 GNAS-AS1 C>T	20	57415455	57415455	C	T	GNAS-AS1	n.672+1537G>A	NR_185847.1		NC_000020.10:g.57415455C>T	(Likely) benign	1 lab	27cb0745ed
22:36702102 MYH9 A>G	22	36702102	36702102	A	G	MYH9	c.2038-5T>C	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36702102A>G	(Likely) benign	1 lab	27f396efea
9:124048472 GSN C>T	9	124048472	124048472	C	T	GSN	c.-10+4632C>T	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124048472C>T	(Likely) benign	1 lab	2818d5d69a
15:89399966 ACAN G>A	15	89399966	89399966	G	A	ACAN	c.4150G>A	NM_001369268.1	NP_001356197.1:p.(Ala1384Thr)	NC_000015.9:g.89399966G>A	(Likely) benign	1 lab	282c9cedab
19:46915114 CCDC8 A>C	19	46915114	46915114	A	C	CCDC8	c.954T>G	NM_032040.5	NP_114429.2:p.(Asn318Lys)	NC_000019.9:g.46915114A>C	(Likely) benign	1 lab	292bed16df
4:3491385 DOK7 A>C	4	3491385	3491385	A	C	DOK7	c.653-19A>C	NM_173660.5	NP_775931.3:p.?	NC_000004.11:g.3491385A>C	(Likely) benign	1 lab	295408d9ce
3:3182234 TRNT1 A>G	3	3182234	3182234	A	G	TRNT1	c.383A>G	NM_182916.3	NP_886552.3:p.(Asp128Gly)	NC_000003.11:g.3182234A>G	(Likely) pathogenic	1 lab	2957d36a6a
11:67810145 TCIRG1 G>T	11	67810145	67810145	G	T	TCIRG1	c.232G>T	NM_006019.4	NP_006010.2:p.(Val78Phe)	NC_000011.9:g.67810145G>T	(Likely) benign	1 lab	29748886f9
15:34080515 RYR3 C>T	15	34080515	34080515	C	T	RYR3	c.9686C>T	NM_001036.6	NP_001027.3:p.(Thr3229Met)	NC_000015.9:g.34080515C>T	(Likely) benign	1 lab	2976616643
8:100861110 VPS13B C>T	8	100861110	100861110	C	T	VPS13B	c.10049C>T	NM_152564.5	NP_689777.3:p.(Thr3350Ile)	NC_000008.10:g.100861110C>T	(Likely) benign	1 lab	298369e699
21:27348258 APP A>G	21	27348258	27348258	A	G	APP	c.1299+9T>C	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27348258A>G	(Likely) benign	1 lab	29ae0c85a5
11:118368719 KMT2A G>A	11	118368719	118368719	G	A	KMT2A	c.5733G>A	NM_001197104.2	NP_001184033.1:p.(Ala1911=)	NC_000011.9:g.118368719G>A	(Likely) benign	1 lab	29bdf40078
15:89388920 ACAN G>A	15	89388920	89388920	G	A	ACAN	c.1236G>A	NM_001369268.1	NP_001356197.1:p.(Leu412=)	NC_000015.9:g.89388920G>A	(Likely) benign	1 lab	2a56482d0c
4:3495030 DOK7 C>T	4	3495030	3495030	C	T	DOK7	c.1317C>T	NM_173660.5	NP_775931.3:p.(Ser439=)	NC_000004.11:g.3495030C>T	(Likely) benign	1 lab	2a5be075c2
3:12475497 PPARG A>G	3	12475497	12475497	A	G	PPARG	c.1281A>G	NM_138711.6	NP_619725.3:p.(Ser427=)	NC_000003.11:g.12475497A>G	(Likely) benign	1 lab	2a682f39d9
6:170594765 DLL1 G>A	6	170594765	170594765	G	A	DLL1	c.754C>T	NM_005618.4	NP_005609.3:p.(Arg252Trp)	NC_000006.11:g.170594765G>A	VUS	1 lab	2a7ca365d1
11:22647261 FANCF G>A	11	22647261	22647261	G	A	FANCF	c.96C>T	NM_022725.4	NP_073562.1:p.(Arg32=)	NC_000011.9:g.22647261G>A	(Likely) benign	1 lab	2ab7aa3e18
22:50967912 TYMP C>T	22	50967912	50967912	C	T	TYMP	c.214+13G>A	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50967912C>T	(Likely) benign	1 lab	2ad9121abf
12:133212520 POLE G>A	12	133212520	133212520	G	A	POLE	c.5769C>T	NM_006231.4	NP_006222.2:p.(Gly1923=)	NC_000012.11:g.133212520G>A	VUS	1 lab	2ae057e899
X:82763774 POU3F4 G>C	X	82763774	82763774	G	C	POU3F4	c.442G>C	NM_000307.5	NP_000298.3:p.(Gly148Arg)	NC_000023.10:g.82763774G>C	VUS	1 lab	2ae428ad25
16:3900637 CREBBP C>T	16	3900637	3900637	C	T	CREBBP	c.459G>A	NM_004380.3	NP_004371.2:p.(Pro153=)	NC_000016.9:g.3900637C>T	(Likely) benign	1 lab	2af69b1113
1:46658038 POMGNT1 A>ACCCAG	1	46658038	46658053	A	ACCCAG	POMGNT1	c.1350_1354dup	NM_017739.4	NP_060209.4:p.(Val452AlafsTer59)	NC_000001.10:g.46658049_46658053dup	(Likely) pathogenic	1 lab	2b19f5fb1f
20:2636382 NOP56 T>C	20	2636382	2636382	T	C	NOP56	c.899T>C	NM_006392.4	NP_006383.2:p.(Ile300Thr)	NC_000020.10:g.2636382T>C	VUS	1 lab	8f9b6680be
2:71783217 DYSF C>T	2	71783217	71783217	C	T	DYSF	c.2216+16C>T	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71783217C>T	(Likely) benign	1 lab	2b2152e20d
11:101323799 TRPC6 G>A	11	101323799	101323799	G	A	TRPC6				NC_000011.9:g.101323799G>A	(Likely) pathogenic	1 lab	2b248ccec7
5:112176926 APC G>C	5	112176926	112176926	G	C	APC	c.5635G>C	NM_000038.6	NP_000029.2:p.(Ala1879Pro)	NC_000005.9:g.112176926G>C	VUS	1 lab	2b2aa257f2
2:112777100 MERTK G>T	2	112777100	112777100	G	T	MERTK	c.2189+1G>T	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112777100G>T	(Likely) pathogenic	1 lab	2b339fcd29
20:62322290 RTEL1 G>A	20	62322290	62322290	G	A	RTEL1	c.2546G>A	NM_001283009.2	NP_001269938.1:p.(Gly849Asp)	NC_000020.10:g.62322290G>A	(Likely) benign	1 lab	2b3e51806c
2:127821511 BIN1 G>T	2	127821511	127821511	G	T	BIN1	c.696C>A	NM_139343.3	NP_647593.1:p.(Asn232Lys)	NC_000002.11:g.127821511G>T	VUS	1 lab	2b701b3a1e
12:88477631 CEP290 G>A	12	88477631	88477631	G	A	CEP290	c.4805C>T	NM_025114.4	NP_079390.3:p.(Thr1602Met)	NC_000012.11:g.88477631G>A	VUS	1 lab	2b9147aca5
7:31013675 GHRHR G>A	7	31013675	31013675	G	A	GHRHR	c.673G>A	NM_000823.4	NP_000814.2:p.(Val225Ile)	NC_000007.13:g.31013675G>A	(Likely) benign	1 lab	2bc5677e09
2:179472878 TTN C>G	2	179472878	179472878	C	G	TTN	c.52705+27G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472878C>G	(Likely) benign	1 lab	2be6273e23
8:11566175 GATA4 G>GGCC	8	11566175	11566189	G	GGCC	GATA4	c.366_368dup	NM_001308093.3	NP_001295022.1:p.(Ala126dup)	NC_000008.10:g.11566187_11566189dup	VUS	1 lab	2c3c441414
9:111653651 ELP1 G>C	9	111653651	111653651	G	C	ELP1	c.2992C>G	NM_003640.5	NP_003631.2:p.(Gln998Glu)	NC_000009.11:g.111653651G>C	VUS	1 lab	2c49a2b6a5
15:48812967 FBN1 A>G	15	48812967	48812967	A	G	FBN1	c.1036T>C	NM_000138.5	NP_000129.3:p.(Ser346Pro)	NC_000015.9:g.48812967A>G	(Likely) pathogenic	1 lab	2c8520e672
15:65594677 MISSING A>G	15	65594677	65594677	A	G	MISSING				NC_000015.9:g.65594677A>G	(Likely) benign	1 lab	2ce8f2fd36
15:89392786 ACAN G>A	15	89392786	89392786	G	A	ACAN	c.1850G>A	NM_001369268.1	NP_001356197.1:p.(Arg617His)	NC_000015.9:g.89392786G>A	(Likely) benign	1 lab	2cef928dd3
17:61994845 GH1 G>A	17	61994845	61994845	G	A	GH1	c.478C>T	NM_000515.5	NP_000506.2:p.(Arg160Trp)	NC_000017.10:g.61994845G>A	(Likely) benign	1 lab	2cf3832f93
X:103043432 PLP1 C>G	X	103043432	103043432	C	G	PLP1	c.689C>G	NM_000533.5	NP_000524.3:p.(Thr230Arg)	NC_000023.10:g.103043432C>G	VUS	1 lab	2d0e328d40
20:31372542 DNMT3B T>TTCATCA	20	31372542	31372549	T	TTCATCA	DNMT3B	c.205-20_205-15dup	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31372544_31372549dup	(Likely) benign	1 lab	2d2aab1122
5:79950727 DHFR G>GCAGCGCCCCCAGCGCCCCCAGCGCCCC	5	79950727	79950750	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCC	DHFR	c.-420_-419insGGGGCGCTGGGGGCGCTGGGGGCGCTG	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC	(Likely) benign	1 lab	2d6ff2ea69
14:73137893 DPF3 C>T	14	73137893	73137893	C	T	DPF3	c.871+3055G>A	NM_001280542.3	NP_001267471.1:p.?	NC_000014.8:g.73137893C>T	VUS	1 lab	2dedcd8bab
15:89390574 ACAN G>A	15	89390574	89390574	G	A	ACAN	c.1530G>A	NM_001369268.1	NP_001356197.1:p.(Pro510=)	NC_000015.9:g.89390574G>A	(Likely) benign	1 lab	2dfd6bef05
3:145809661 PLOD2 C>T	3	145809661	145809661	C	T	PLOD2	c.805G>A	NM_182943.3	NP_891988.1:p.(Val269Ile)	NC_000003.11:g.145809661C>T	(Likely) benign	1 lab	2e16766e3a
19:42776237 CIC G>A	19	42776237	42776237	G	A	CIC	c.302G>A	NM_001386298.1	NP_001373227.1:p.(Arg101His)	NC_000019.9:g.42776237G>A	VUS	1 lab	2e38fc8b32
1:235909751 LYST A>G	1	235909751	235909751	A	G	LYST	c.7857T>C	NM_000081.4	NP_000072.2:p.(His2619=)	NC_000001.10:g.235909751A>G	(Likely) benign	1 lab	2ed6f094fc
1:76215194 ACADM G>A	1	76215194	76215194	G	A	ACADM				NC_000001.10:g.76215194G>A	(Likely) pathogenic	1 lab	2eefa2ff11
19:13318672 CACNA1A CCTGCTGCTGCTGCTGCTGCTGCTGCTG>C	19	13318672	13318712	CCTGCTGCTGCTGCTGCTGCTGCTGCTG	C	CACNA1A	c.6949_6975del	NM_001127222.2	NP_001120694.1:p.(Gln2317_Gln2325del)	NC_000019.9:g.13318686_13318712del	(Likely) benign	1 lab	2ef51105f1
19:13325161 CACNA1A C>T	19	13325161	13325161	C	T	CACNA1A	c.5840-14G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13325161C>T	(Likely) benign	1 lab	2efb9df780
22:21336681 LZTR1 G>C	22	21336681	21336681	G	C	LZTR1	c.21G>C	NM_006767.3	NP_006758.2:p.(Thr7=)	NC_000022.10:g.21336681G>C	(Likely) benign	1 lab	2f07e06f74
17:36047328 HNF1B A>C	17	36047328	36047328	A	C	HNF1B	c.*47T>G	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36047328A>C	(Likely) benign	1 lab	2f17fba2e0
7:117180145 CFTR T>C	7	117180145	117180145	T	C	CFTR	c.870-9T>C	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117180145T>C	(Likely) benign	1 lab	2f2513db44
16:68849663 CDH1 G>T	16	68849663	68849663	G	T	CDH1	c.1565+1G>T	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68849663G>T	(Likely) pathogenic	1 lab	2f25e718ae
7:127253550 PAX4 C>T	7	127253550	127253550	C	T	PAX4	c.599G>A	NM_001366110.1	NP_001353039.1:p.(Arg200His)	NC_000007.13:g.127253550C>T	VUS	1 lab	2f779ad9b1
2:48025814 MSH6 T>C	2	48025814	48025814	T	C	MSH6	c.692T>C	NM_000179.3	NP_000170.1:p.(Val231Ala)	NC_000002.11:g.48025814T>C	(Likely) benign	1 lab	2f7966adbb
9:135937396 CEL C>T	9	135937396	135937396	C	T	CEL	c.7C>T	NM_001807.6	NP_001798.3:p.(Arg3Cys)	NC_000009.11:g.135937396C>T	(Likely) benign	1 lab	2f9460cba7
17:40371391 STAT5B G>A	17	40371391	40371391	G	A	STAT5B	c.772C>T	NM_012448.4	NP_036580.2:p.(Arg258Trp)	NC_000017.10:g.40371391G>A	(Likely) benign	1 lab	2f961a8ea9
15:89399986 ACAN C>G	15	89399986	89399986	C	G	ACAN	c.4170C>G	NM_001369268.1	NP_001356197.1:p.(Asp1390Glu)	NC_000015.9:g.89399986C>G	(Likely) benign	1 lab	2fd37b4e3d
2:27306788 EMILIN1 G>C	2	27306788	27306788	G	C	EMILIN1	c.2349G>C	NM_007046.4	NP_008977.1:p.(Gln783His)	NC_000002.11:g.27306788G>C	VUS	1 lab	301a2c463d
10:89475576 PAPSS2 A>T	10	89475576	89475576	A	T	PAPSS2	c.841A>T	NM_001015880.2	NP_001015880.1:p.(Met281Leu)	NC_000010.10:g.89475576A>T	(Likely) benign	1 lab	309f0540d5
22:50967571 TYMP G>A	22	50967571	50967571	G	A	TYMP	c.411C>T	NM_001953.5	NP_001944.1:p.(Gly137=)	NC_000022.10:g.50967571G>A	(Likely) benign	1 lab	3139b12ceb
18:2747617 SMCHD1 T>TA	18	2747617	2747619	T	TA	SMCHD1	c.3901dup	NM_015295.3	NP_056110.2:p.(Ser1301LysfsTer6)	NC_000018.9:g.2747619dup	(Likely) pathogenic	1 lab	31f9a36cf6
2:220422583 OBSL1 G>A	2	220422583	220422583	G	A	OBSL1	c.3752C>T	NM_015311.3	NP_056126.1:p.(Pro1251Leu)	NC_000002.11:g.220422583G>A	(Likely) benign	1 lab	320e1f3204
11:108192158 ATM C>T	11	108192158	108192158	C	T	ATM	c.6572+11C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108192158C>T	(Likely) benign	1 lab	324333e742
5:74021500 GFM2 T>C	5	74021500	74021500	T	C	GFM2	c.1993A>G	NM_032380.5	NP_115756.2:p.(Met665Val)	NC_000005.9:g.74021500T>C	VUS	1 lab	3261085293
13:111109725 COL4A2 G>A	13	111109725	111109725	G	A	COL4A2	c.1375G>A	NM_001846.4	NP_001837.2:p.(Ala459Thr)	NC_000013.10:g.111109725G>A	(Likely) benign	1 lab	32d4832ad5
12:88890959 KITLG C>T	12	88890959	88890959	C	T	KITLG	c.*38-1G>A	NM_000899.5	NP_000890.1:p.?	NC_000012.11:g.88890959C>T	(Likely) benign	1 lab	32d6cdb00f
4:1958171 NSD2 A>G	4	1958171	1958171	A	G	NSD2	c.2881+256A>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1958171A>G	(Likely) benign	1 lab	3311f41977
14:92460176 TRIP11 C>G	14	92460176	92460176	C	G	TRIP11	c.5137G>C	NM_004239.4	NP_004230.2:p.(Glu1713Gln)	NC_000014.8:g.92460176C>G	(Likely) benign	1 lab	3381ee3815
14:39524444 SEC23A G>A	14	39524444	39524444	G	A	SEC23A	c.1562C>T	NM_006364.4	NP_006355.2:p.(Ala521Val)	NC_000014.8:g.39524444G>A	VUS	1 lab	338953f158
7:44186044 GCK C>T	7	44186044	44186044	C	T	GCK	c.1019+18G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44186044C>T	(Likely) benign	1 lab	33962745a6
19:7174581 INSR C>A	19	7174581	7174581	C	A	INSR	c.1123+13G>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7174581C>A	(Likely) benign	1 lab	33af47a81f
17:61151354 TANC2 C>T	17	61151354	61151354	C	T	TANC2	c.118C>T	NM_001394998.1	NP_001381927.1:p.(Arg40Cys)	NC_000017.10:g.61151354C>T	(Likely) benign	1 lab	33d3f5db76
13:32930676 BRCA2 C>G	13	32930676	32930676	C	G	BRCA2	c.7547C>G	NM_000059.3	NP_000050.2:p.(Ser2516Cys)	NC_000013.10:g.32930676C>G	(Likely) benign	1 lab	33eb8f7b2f
1:235993709 LYST G>A	1	235993709	235993709	G	A	LYST	c.9C>T	NM_000081.4	NP_000072.2:p.(Thr3=)	NC_000001.10:g.235993709G>A	(Likely) benign	1 lab	340f81a9bc
5:79950727 DHFR G>GCAGCGCCCCCAGCGCCCC	5	79950727	79950749	G	GCAGCGCCCCCAGCGCCCC	DHFR	c.-437_-420dup	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950732_79950749dup	(Likely) benign	1 lab	341c440a2b
17:63534302 AXIN2 A>G	17	63534302	63534302	A	G	AXIN2	c.1200+19T>C	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63534302A>G	(Likely) benign	1 lab	3422bb2dd9
7:140482955 BRAF A>G	7	140482955	140482955	A	G	BRAF	c.1180T>C	NM_004333.6	NP_004324.2:p.(Ser394Pro)	NC_000007.13:g.140482955A>G	VUS	1 lab	3426024a60
9:135946887 CEL CGCCCCCCCCGTGCCGCCCACGGGTGACGCCGG>C	9	135946887	135946928	CGCCCCCCCCGTGCCGCCCACGGGTGACGCCGG	C	CEL	c.2008_2039del	NM_001807.6	NP_001798.3:p.(Val670ArgfsTer6)	NC_000009.11:g.135946897_135946928del	(Likely) benign	1 lab	3461e38028
3:33093267 GLB1 T>C	3	33093267	33093267	T	C	GLB1	c.938A>G	NM_000404.4	NP_000395.3:p.(Asn313Ser)	NC_000003.11:g.33093267T>C	VUS	1 lab	34794bf887
17:3402294 ASPA A>C	17	3402294	3402294	A	C	ASPA	c.854A>C	NM_000049.4	NP_000040.1:p.(Glu285Ala)	NC_000017.10:g.3402294A>C	(Likely) pathogenic	1 lab	349921f426
19:39076648 RYR1 T>A	19	39076648	39076648	T	A	RYR1	c.14868+6T>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39076648T>A	(Likely) benign	1 lab	34a6288a58
1:247597223 NLRP3 G>A	1	247597223	247597223	G	A	NLRP3	c.2328-182G>A	NM_004895.5	NP_004886.3:p.?	NC_000001.10:g.247597223G>A	VUS	1 lab	34bb9dd8e8
17:73481542 TMEM94 C>T	17	73481542	73481542	C	T	TMEM94	c.58C>T	NM_014738.6	NP_055553.3:p.(Arg20Trp)	NC_000017.10:g.73481542C>T	VUS	1 lab	34d2ab1014
9:35658187 CCDC107 AT>A	9	35658187	35658188	AT	A	CCDC107				NC_000009.11:g.35658188del	VUS	1 lab	34fe555678
18:33719409 ELP2 G>T	18	33719409	33719409	G	T	ELP2	c.523+574G>T	NM_018255.4	NP_060725.1:p.?	NC_000018.9:g.33719409G>T	(Likely) benign	1 lab	3521043c67
5:236619 SDHA T>C	5	236619	236619	T	C	SDHA	c.1337T>C	NM_004168.4	NP_004159.2:p.(Val446Ala)	NC_000005.9:g.236619T>C	VUS	1 lab	3532ae618c
16:1637998 IFT140 G>A	16	1637998	1637998	G	A	IFT140	c.838C>T	NM_014714.4	NP_055529.2:p.(Arg280Trp)	NC_000016.9:g.1637998G>A	(Likely) benign	1 lab	359d884ba9
6:129204464 LAMA2 C>T	6	129204464	129204464	C	T	LAMA2	c.74C>T	NM_000426.4	NP_000417.3:p.(Pro25Leu)	NC_000006.11:g.129204464C>T	(Likely) benign	1 lab	359e4d9f48
4:6619139 MAN2B2 C>T	4	6619139	6619139	C	T	MAN2B2	c.2734C>T	NM_015274.3	NP_056089.1:p.(Arg912Cys)	NC_000004.11:g.6619139C>T	VUS	1 lab	35a2c2aa92
3:129252554 RHO C>T	3	129252554	129252554	C	T	RHO	c.1040C>T	NM_000539.3	NP_000530.1:p.(Pro347Leu)	NC_000003.11:g.129252554C>T	(Likely) pathogenic	1 lab	35cdf9b4bb
X:53239726 KDM5C G>A	X	53239726	53239726	G	A	KDM5C	c.1616C>T	NM_004187.5	NP_004178.2:p.(Ser539Leu)	NC_000023.10:g.53239726G>A	VUS	1 lab	35ddb07ad8
20:44637624 MMP9 C>T	20	44637624	44637624	C	T	MMP9	c.59C>T	NM_004994.3	NP_004985.2:p.(Ala20Val)	NC_000020.10:g.44637624C>T	(Likely) benign	1 lab	35fd634f36
2:179397669 TTN C>T	2	179397669	179397669	C	T	TTN	c.103673G>A	NM_001267550.2	NP_001254479.2:p.(Arg34558His)	NC_000002.11:g.179397669C>T	VUS	1 lab	3606cb8287
11:22296233 ANO5 T>G	11	22296233	22296233	T	G	ANO5	c.2354T>G	NM_213599.3	NP_998764.1:p.(Leu785Arg)	NC_000011.9:g.22296233T>G	(Likely) benign	1 lab	3606d5eae1
15:89390534 ACAN A>T	15	89390534	89390534	A	T	ACAN	c.1490A>T	NM_001369268.1	NP_001356197.1:p.(Gln497Leu)	NC_000015.9:g.89390534A>T	(Likely) benign	1 lab	36369775f7
21:44492276 CBS C>A	21	44492276	44492276	C	A	CBS	c.28G>T	NM_000071.3	NP_000062.1:p.(Val10Leu)	NC_000021.8:g.44492276C>A	(Likely) benign	1 lab	36ad1ee81f
11:47469654 RAPSN A>G	11	47469654	47469654	A	G	RAPSN	c.241T>C	NM_005055.5	NP_005046.2:p.(Phe81Leu)	NC_000011.9:g.47469654A>G	(Likely) benign	1 lab	36c39aa8e2
4:79368042 FRAS1 A>G	4	79368042	79368042	A	G	FRAS1	c.6010+8A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79368042A>G	(Likely) benign	1 lab	39715f2024
20:62324564 RTEL1 C>T	20	62324564	62324564	C	T	RTEL1	c.2920C>T	NM_001283009.2	NP_001269938.1:p.(Arg974Ter)	NC_000020.10:g.62324564C>T	(Likely) pathogenic	1 lab	36c7e2ca64
16:1642333 IFT140 C>T	16	1642333	1642333	C	T	IFT140	c.492-14G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1642333C>T	(Likely) benign	1 lab	3729cbde52
15:89400106 ACAN T>C	15	89400106	89400106	T	C	ACAN	c.4290T>C	NM_001369268.1	NP_001356197.1:p.(Ser1430=)	NC_000015.9:g.89400106T>C	(Likely) benign	1 lab	373b2881dd
13:28624374 FLT3 G>T	13	28624374	28624374	G	T	FLT3	c.615-15C>A	NM_004119.3	NP_004110.2:p.?	NC_000013.10:g.28624374G>T	(Likely) benign	1 lab	377d9c7602
6:129636606 LAMA2 T>G	6	129636606	129636606	T	G	LAMA2	c.3556-15T>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129636606T>G	(Likely) benign	1 lab	379215584b
16:15814889 MYH11 G>T	16	15814889	15814889	G	T	MYH11	c.4598C>A	NM_002474.3	NP_002465.1:p.(Ser1533Tyr)	NC_000016.9:g.15814889G>T	VUS	1 lab	37b730ff99
10:89621800 KLLN A>T	10	89621800	89621800	A	T	KLLN	c.445T>A	NM_001126049.2	NP_001119521.1:p.(Trp149Arg)	NC_000010.10:g.89621800A>T	(Likely) benign	1 lab	37e394dcec
5:112111320 APC A>AG	5	112111320	112111321	A	AG	APC	c.423-6_423-5insG	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111320_112111321insG	VUS	1 lab	37f0cea05c
16:88904097 GALNS A>C	16	88904097	88904097	A	C	GALNS	c.499T>G	NM_000512.5	NP_000503.1:p.(Phe167Val)	NC_000016.9:g.88904097A>C	(Likely) benign	1 lab	3824fb6240
10:76781851 KAT6B GGAGGAGGAAGAA>G	10	76781851	76781880	GGAGGAGGAAGAA	G	KAT6B	c.3252_3263del	NM_012330.4	NP_036462.2:p.(Glu1086_Glu1089del)	NC_000010.10:g.76781869_76781880del	(Likely) benign	1 lab	383499e8e9
2:47748502 MSH2 G>A	2	47748502	47748502	G	A	MSH2				NC_000002.11:g.47748502G>A	(Likely) benign	1 lab	38f1076fd9
17:41276040 BRCA1 G>A	17	41276040	41276040	G	A	BRCA1	c.74C>T	NM_007294.4	NP_009225.1:p.(Pro25Leu)	NC_000017.10:g.41276040G>A	(Likely) pathogenic	1 lab	39062569b1
13:25487103 CPAP T>A	13	25487103	25487103	T	A	CPAP	c.61A>T	NM_018451.5	NP_060921.3:p.(Met21Leu)	NC_000013.10:g.25487103T>A	(Likely) benign	1 lab	3909190866
5:112175755 APC ATT>A	5	112175755	112175757	ATT	A	APC	c.4465_4466del	NM_000038.6	NP_000029.2:p.(Leu1489ThrfsTer24)	NC_000005.9:g.112175756_112175757del	(Likely) pathogenic	1 lab	3996d97e08
17:8138569 CTC1 C>G	17	8138569	8138569	C	G	CTC1	c.1241G>C	NM_025099.6	NP_079375.3:p.(Gly414Ala)	NC_000017.10:g.8138569C>G	(Likely) benign	1 lab	39b44a263e
5:58334922 PDE4D G>T	5	58334922	58334922	G	T	PDE4D	c.809-124C>A	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58334922G>T	(Likely) benign	1 lab	39c4383ff8
18:2747504 SMCHD1 T>G	18	2747504	2747504	T	G	SMCHD1	c.3802-16T>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2747504T>G	(Likely) benign	1 lab	39f13c83e2
5:79950724 DHFR G>GCCGCAGCGGCCGCAGCGC	5	79950724	79950733	G	GCCGCAGCGGCCGCAGCGC	DHFR	c.-417_-416insGCGCTGCGGCCGCTGCGG	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950732_79950733insGCCGCAGCGCCCGCAGCG	(Likely) benign	1 lab	3a82dbbab4
8:144992390 PLEC C>G	8	144992390	144992390	C	G	PLEC	c.11599G>C	NM_201384.3	NP_958786.1:p.(Asp3867His)	NC_000008.10:g.144992390C>G	(Likely) benign	1 lab	3a928155c5
19:7142843 INSR C>G	19	7142843	7142843	C	G	INSR	c.2526G>C	NM_000208.4	NP_000199.2:p.(Ala842=)	NC_000019.9:g.7142843C>G	(Likely) benign	1 lab	3aaf0a7071
5:112102989 APC A>T	5	112102989	112102989	A	T	APC	c.324A>T	NM_000038.6	NP_000029.2:p.(Gly108=)	NC_000005.9:g.112102989A>T	(Likely) pathogenic	1 lab	3ad0419714
15:89381987 ACAN A>G	15	89381987	89381987	A	G	ACAN	c.164A>G	NM_001369268.1	NP_001356197.1:p.(Asp55Gly)	NC_000015.9:g.89381987A>G	VUS	1 lab	3af4f5c839
X:47308795 ZNF41 A>C	X	47308795	47308795	A	C	ZNF41	c.374T>G	NM_001324144.2	NP_001311073.1:p.(Ile125Arg)	NC_000023.10:g.47308795A>C	(Likely) benign	1 lab	3b5a966aa6
2:10188669 KLF11 G>A	2	10188669	10188669	G	A	KLF11	c.1205G>A	NM_003597.5	NP_003588.1:p.(Arg402Gln)	NC_000002.11:g.10188669G>A	(Likely) benign	1 lab	3badc816b0
4:6292961 WFS1 C>G	4	6292961	6292961	C	G	WFS1	c.498C>G	NM_006005.3	NP_005996.2:p.(Leu166=)	NC_000004.11:g.6292961C>G	(Likely) benign	1 lab	3bc7d6a24f
14:102474581 DYNC1H1 C>T	14	102474581	102474581	C	T	DYNC1H1	c.5884C>T	NM_001376.5	NP_001367.2:p.(Arg1962Cys)	NC_000014.8:g.102474581C>T	(Likely) pathogenic	1 lab	3bcb419f13
5:138856982 STING1 C>T	5	138856982	138856982	C	T	STING1	c.878G>A	NM_198282.3	NP_938023.1:p.(Arg293Gln)	NC_000005.9:g.138856982C>T	(Likely) benign	1 lab	3c22065ff6
8:68255549 ARFGEF1 G>A	8	68255549	68255549	G	A	ARFGEF1	c.-27C>T	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68255549G>A	(Likely) benign	1 lab	3c26b3ce5f
2:69597209 GFPT1 A>G	2	69597209	69597209	A	G	GFPT1	c.147T>C	NM_001244710.2	NP_001231639.1:p.(Asp49=)	NC_000002.11:g.69597209A>G	(Likely) benign	1 lab	3c5c28cf46
14:105418865 AHNAK2 G>A	14	105418865	105418865	G	A	AHNAK2	c.2923C>T	NM_138420.4	NP_612429.2:p.(Leu975=)	NC_000014.8:g.105418865G>A	(Likely) benign	1 lab	3c7525dcf9
1:173797451 DARS2 T>TC	1	173797451	173797461	T	TC	DARS2	c.228-10dup	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797461dup	(Likely) benign	1 lab	3c76a54f3c
11:17426100 ABCC8 G>A	11	17426100	17426100	G	A	ABCC8	c.3516C>T	NM_000352.6	NP_000343.2:p.(Ile1172=)	NC_000011.9:g.17426100G>A	(Likely) benign	1 lab	3cb64c4c37
10:123324017 FGFR2 C>G	10	123324017	123324017	C	G	FGFR2	c.453G>C	NM_000141.5	NP_000132.3:p.(Lys151Asn)	NC_000010.10:g.123324017C>G	VUS	1 lab	3cc5ab37c7
8:144999540 PLEC C>T	8	144999540	144999540	C	T	PLEC	c.4557G>A	NM_201384.3	NP_958786.1:p.(Ser1519=)	NC_000008.10:g.144999540C>T	(Likely) benign	1 lab	3cdd46b3f2
11:108160459 ATM G>A	11	108160459	108160459	G	A	ATM	c.4367G>A	NM_000051.4	NP_000042.3:p.(Gly1456Asp)	NC_000011.9:g.108160459G>A	VUS	1 lab	3d91447d82
12:46246202 ARID2 G>C	12	46246202	46246202	G	C	ARID2	c.4296G>C	NM_152641.4	NP_689854.2:p.(Gln1432His)	NC_000012.11:g.46246202G>C	VUS	1 lab	3dd22aed50
19:12996719 KLF1 G>A	19	12996719	12996719	G	A	KLF1	c.325C>T	NM_006563.5	NP_006554.1:p.(Pro109Ser)	NC_000019.9:g.12996719G>A	(Likely) benign	1 lab	3e2f0ae157
4:103501755 NFKB1 G>A	4	103501755	103501755	G	A	NFKB1	c.794G>A	NM_003998.4	NP_003989.2:p.(Gly265Glu)	NC_000004.11:g.103501755G>A	VUS	1 lab	3e32269f1b
19:7122799 INSR C>T	19	7122799	7122799	C	T	INSR	c.3370-15G>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7122799C>T	(Likely) benign	1 lab	3e3b81531a
15:99500647 IGF1R G>A	15	99500647	99500647	G	A	IGF1R	c.4080G>A	NM_000875.5	NP_000866.1:p.(Pro1360=)	NC_000015.9:g.99500647G>A	(Likely) benign	1 lab	3e43c404cc
4:155527887 FGG C>T	4	155527887	155527887	C	T	FGG	c.1099G>A	NM_000509.6	NP_000500.2:p.(Ala367Thr)	NC_000004.11:g.155527887C>T	(Likely) pathogenic	1 lab	3e9409eda9
11:22646571 FANCF T>C	11	22646571	22646571	T	C	FANCF	c.786A>G	NM_022725.4	NP_073562.1:p.(Leu262=)	NC_000011.9:g.22646571T>C	(Likely) benign	1 lab	3eea01b858
8:42585761 CHRNB3 T>G	8	42585761	42585761	T	G	CHRNB3	c.274T>G	NM_000749.5	NP_000740.1:p.(Trp92Gly)	NC_000008.10:g.42585761T>G	VUS	1 lab	3ef33caaa5
7:6022293 PMS2 C>T	7	6022293	6022293	C	T	PMS2	c.2174+162G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022293C>T	(Likely) benign	1 lab	3f07bfaafc
12:124228816 ATP6V0A2 G>T	12	124228816	124228816	G	T	ATP6V0A2	c.1258G>T	NM_012463.4	NP_036595.2:p.(Val420Leu)	NC_000012.11:g.124228816G>T	(Likely) benign	1 lab	3f422227be
16:1842265 IGFALS C>T	16	1842265	1842265	C	T	IGFALS	c.154G>A	NM_004970.3	NP_004961.1:p.(Asp52Asn)	NC_000016.9:g.1842265C>T	(Likely) benign	1 lab	3f42b7a544
15:89876349 POLG C>T	15	89876349	89876349	C	T	POLG	c.637G>A	NM_002693.3	NP_002684.1:p.(Val213Met)	NC_000015.9:g.89876349C>T	VUS	1 lab	3f6c2833c0
3:190030680 CLDN1 A>G	3	190030680	190030680	A	G	CLDN1	c.369T>C	NM_021101.5	NP_066924.1:p.(Gly123=)	NC_000003.11:g.190030680A>G	(Likely) benign	1 lab	3f7229dff3
4:3494495 DOK7 G>A	4	3494495	3494495	G	A	DOK7	c.782G>A	NM_173660.5	NP_775931.3:p.(Arg261His)	NC_000004.11:g.3494495G>A	(Likely) benign	1 lab	3fea8b37b4
6:51618169 PKHD1 GT>G	6	51618169	51618170	GT	G	PKHD1	c.8798-19del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51618170del	(Likely) benign	1 lab	4058f3e983
20:3891478 PANK2 G>A	20	3891478	3891478	G	A	PANK2	c.1235+1G>A	NM_153638.4	NP_705902.2:p.?	NC_000020.10:g.3891478G>A	(Likely) pathogenic	1 lab	40aa8843ba
4:1908786 NSD2 G>A	4	1908786	1908786	G	A	NSD2	c.760+2681G>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1908786G>A	VUS	1 lab	40c83d2602
6:51497344 PKHD1 T>TA	6	51497344	51497354	T	TA	PKHD1	c.11665+18dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51497354dup	(Likely) benign	1 lab	9235cbc59f
10:115348046 HABP2 G>A	10	115348046	115348046	G	A	HABP2	c.1601G>A	NM_004132.5	NP_004123.1:p.(Gly534Glu)	NC_000010.10:g.115348046G>A	(Likely) benign	1 lab	411790d15d
8:68137397 ARFGEF1 T>G	8	68137397	68137397	T	G	ARFGEF1	c.4078-129A>C	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68137397T>G	VUS	1 lab	41324881c2
15:42652081 CAPN3 G>A	15	42652081	42652081	G	A	CAPN3	c.78G>A	NM_000070.3	NP_000061.1:p.(Pro26=)	NC_000015.9:g.42652081G>A	(Likely) benign	1 lab	417b3eb8f0
16:2152915 PKD1 G>GCT	16	2152915	2152918	G	GCT	PKD1	c.8846_8847dup	NM_001009944.3	NP_001009944.3:p.(Pro2950SerfsTer45)	NC_000016.9:g.2152917_2152918dup	(Likely) pathogenic	1 lab	417bca97ef
2:152387592 NEB G>A	2	152387592	152387592	G	A	NEB	c.21546C>T	NM_001164508.2	NP_001157980.2:p.(Asn7182=)	NC_000002.11:g.152387592G>A	(Likely) benign	1 lab	41ade875fe
1:173800667 DARS2 T>G	1	173800667	173800667	T	G	DARS2	c.397-6T>G	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173800667T>G	(Likely) benign	1 lab	41e8a57d9d
8:70512975 SULF1 A>G	8	70512975	70512975	A	G	SULF1	c.872A>G	NM_001128205.2	NP_001121677.1:p.(Asp291Gly)	NC_000008.10:g.70512975A>G	VUS	1 lab	4200e63249
11:26529780 ANO3 A>G	11	26529780	26529780	A	G	ANO3	c.562A>G	NM_031418.4	NP_113606.2:p.(Arg188Gly)	NC_000011.9:g.26529780A>G	VUS	1 lab	9cbdded80f
16:3828172 CREBBP A>G	16	3828172	3828172	A	G	CREBBP	c.1953T>C	NM_004380.3	NP_004371.2:p.(Tyr651=)	NC_000016.9:g.3828172A>G	(Likely) benign	1 lab	42926a8d5d
13:111156311 COL4A2 T>C	13	111156311	111156311	T	C	COL4A2	c.4256T>C	NM_001846.4	NP_001837.2:p.(Met1419Thr)	NC_000013.10:g.111156311T>C	(Likely) benign	1 lab	42a25759e1
16:14014055 ERCC4 C>T	16	14014055	14014055	C	T	ERCC4	c.33C>T	NM_005236.3	NP_005227.1:p.(Ala11=)	NC_000016.9:g.14014055C>T	(Likely) benign	1 lab	42b3d21216
1:112042863 ADORA3 A>T	1	112042863	112042863	A	T	ADORA3	c.666T>A	NM_000677.4	NP_000668.1:p.(Tyr222Ter)	NC_000001.10:g.112042863A>T	VUS	1 lab	46681a0428
1:27024035 ARID1A C>T	1	27024035	27024035	C	T	ARID1A	c.1137+4C>T	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27024035C>T	(Likely) benign	1 lab	43c98fef38
13:110859061 COL4A1 C>A	13	110859061	110859061	C	A	COL4A1	c.809G>T	NM_001845.6	NP_001836.3:p.(Gly270Val)	NC_000013.10:g.110859061C>A	VUS	1 lab	43ca79e0ae
17:42992714 GFAP C>T	17	42992714	42992714	C	T	GFAP	c.141G>A	NM_002055.5	NP_002046.1:p.(Pro47=)	NC_000017.10:g.42992714C>T	(Likely) benign	1 lab	43dd61a632
17:48253152 SGCA C>T	17	48253152	48253152	C	T	SGCA	c.*92C>T	NM_000023.4	NP_000014.1:p.?	NC_000017.10:g.48253152C>T	(Likely) benign	1 lab	43e2098266
5:42565981 GHR A>T	5	42565981	42565981	A	T	GHR	c.5A>T	NM_000163.5	NP_000154.1:p.(Asp2Val)	NC_000005.9:g.42565981A>T	VUS	1 lab	43e4e3a0eb
17:78064185 CCDC40 CAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA>C	17	78064185	78064280	CAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	C	CCDC40	c.2832+535_2832+597del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064218_78064280del	(Likely) benign	1 lab	4404246eef
2:238296273 COL6A3 C>T	2	238296273	238296273	C	T	COL6A3	c.1264G>A	NM_004369.4	NP_004360.2:p.(Val422Met)	NC_000002.11:g.238296273C>T	(Likely) benign	1 lab	4455ef7244
5:149759201 TCOF1 C>T	5	149759201	149759201	C	T	TCOF1	c.2765C>T	NM_001371623.1	NP_001358552.1:p.(Ser922Leu)	NC_000005.9:g.149759201C>T	(Likely) benign	1 lab	446d4edc59
5:176562443 NSD1 C>T	5	176562443	176562443	C	T	NSD1	c.339C>T	NM_022455.5	NP_071900.2:p.(Cys113=)	NC_000005.9:g.176562443C>T	(Likely) benign	1 lab	44ad4b8a96
6:51637536 PKHD1 G>T	6	51637536	51637536	G	T	PKHD1	c.8606C>A	NM_138694.4	NP_619639.3:p.(Thr2869Lys)	NC_000006.11:g.51637536G>T	(Likely) benign	1 lab	44cc6724da
10:16960761 CUBN T>A	10	16960761	16960761	T	A	CUBN	c.6860A>T	NM_001081.4	NP_001072.2:p.(Asp2287Val)	NC_000010.10:g.16960761T>A	VUS	1 lab	4518c6bccf
1:116932066 ATP1A1 G>A	1	116932066	116932066	G	A	ATP1A1	c.760G>A	NM_000701.8	NP_000692.2:p.(Ala254Thr)	NC_000001.10:g.116932066G>A	VUS	1 lab	4546945783
12:121440390 C12orf43 C>T	12	121440390	121440390	C	T	C12orf43	c.*1566G>A	NM_022895.3	NP_075046.1:p.?	NC_000012.11:g.121440390C>T	(Likely) benign	1 lab	45a0766069
21:27354637 APP G>A	21	27354637	27354637	G	A	APP	c.1224+20C>T	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27354637G>A	(Likely) benign	1 lab	45a2f8f192
9:36222882 GNE G>A	9	36222882	36222882	G	A	GNE	c.1525C>T	NM_005476.7	NP_005467.1:p.(His509Tyr)	NC_000009.11:g.36222882G>A	(Likely) pathogenic	1 lab	45a305a5cc
17:29298435 RNF135 G>A	17	29298435	29298435	G	A	RNF135	c.344G>A	NM_032322.4	NP_115698.3:p.(Arg115Lys)	NC_000017.10:g.29298435G>A	(Likely) benign	1 lab	45b8d95660
12:21623284 RECQL C>CAAAA	12	21623284	21623300	C	CAAAA	RECQL	c.1798-8_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623297_21623300dup	(Likely) benign	1 lab	45ba7060df
5:112174697 APC G>T	5	112174697	112174697	G	T	APC	c.3406G>T	NM_000038.6	NP_000029.2:p.(Glu1136Ter)	NC_000005.9:g.112174697G>T	(Likely) pathogenic	1 lab	45c08eb46c
16:2142601 PKD1 A>G	16	2142601	2142601	A	G	PKD1	c.11157-8T>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2142601A>G	VUS	1 lab	45ebd8c371
1:154144487 TPM3 G>A	1	154144487	154144487	G	A	TPM3	c.567-523C>T	NM_152263.4	NP_689476.2:p.?	NC_000001.10:g.154144487G>A	VUS	1 lab	4624598907
10:50824106 CHAT C>T	10	50824106	50824106	C	T	CHAT	c.287-442C>T	NM_020549.5	NP_065574.4:p.?	NC_000010.10:g.50824106C>T	(Likely) benign	1 lab	46655e8dc6
17:48253193 SGCA GA>G	17	48253193	48253194	GA	G	SGCA	c.*134del	NM_000023.4	NP_000014.1:p.?	NC_000017.10:g.48253194del	(Likely) benign	1 lab	4675ed4715
17:59770824 BRIP1 G>A	17	59770824	59770824	G	A	BRIP1	c.2542C>T	NM_032043.3	NP_114432.2:p.(Arg848Cys)	NC_000017.10:g.59770824G>A	VUS	1 lab	46ab77f9d3
14:102348613 PPP2R5C C>T	14	102348613	102348613	C	T	PPP2R5C	c.570+5C>T	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102348613C>T	(Likely) benign	1 lab	46e63e2f27
14:68274315 ZFYVE26 G>T	14	68274315	68274315	G	T	ZFYVE26	c.686C>A	NM_015346.4	NP_056161.2:p.(Ala229Glu)	NC_000014.8:g.68274315G>T	VUS	1 lab	46f02b607a
19:12996929 KLF1 T>G	19	12996929	12996929	T	G	KLF1	c.115A>C	NM_006563.5	NP_006554.1:p.(Met39Leu)	NC_000019.9:g.12996929T>G	(Likely) benign	1 lab	46f8d581b4
5:80063799 MSH3 A>G	5	80063799	80063799	A	G	MSH3	c.1944A>G	NM_002439.5	NP_002430.3:p.(Leu648=)	NC_000005.9:g.80063799A>G	VUS	1 lab	46fa3f76f7
20:31383299 DNMT3B A>G	20	31383299	31383299	A	G	DNMT3B	c.1211A>G	NM_006892.4	NP_008823.1:p.(Tyr404Cys)	NC_000020.10:g.31383299A>G	(Likely) benign	1 lab	47181f60b3
2:228137765 COL4A3 C>G	2	228137765	228137765	C	G	COL4A3	c.1859C>G	NM_000091.5	NP_000082.2:p.(Pro620Arg)	NC_000002.11:g.228137765C>G	VUS	1 lab	4748a8d323
1:53676401 CPT2 T>C	1	53676401	53676401	T	C	CPT2	c.1055T>C	NM_000098.3	NP_000089.1:p.(Phe352Ser)	NC_000001.10:g.53676401T>C	(Likely) benign	1 lab	47a14cca5d
19:18900937 COMP G>A	19	18900937	18900937	G	A	COMP	c.218-14C>T	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900937G>A	(Likely) benign	1 lab	47c375d0ac
17:78063951 CCDC40 CAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAG>C	17	78063951	78064020	CAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAG	C	CCDC40	c.2832+274_2832+337del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063957_78064020del	(Likely) benign	1 lab	47e6a97eed
6:51914942 PKHD1 A>C	6	51914942	51914942	A	C	PKHD1	c.2279+13T>G	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51914942A>C	(Likely) benign	1 lab	48015802b2
13:111156310 COL4A2 A>G	13	111156310	111156310	A	G	COL4A2	c.4255A>G	NM_001846.4	NP_001837.2:p.(Met1419Val)	NC_000013.10:g.111156310A>G	(Likely) benign	1 lab	4816368a4b
22:41513727 EP300 G>A	22	41513727	41513727	G	A	EP300	c.631G>A	NM_001429.4	NP_001420.2:p.(Gly211Ser)	NC_000022.10:g.41513727G>A	(Likely) benign	1 lab	4837ac2a87
19:42880071 MEGF8 C>A	19	42880071	42880071	C	A	MEGF8	c.7682C>A	NM_001271938.2	NP_001258867.1:p.(Pro2561Gln)	NC_000019.9:g.42880071C>A	VUS	1 lab	488a59f040
1:36932458 CSF3R G>A	1	36932458	36932458	G	A	CSF3R	c.2041-30C>T	NM_000760.4	NP_000751.1:p.?	NC_000001.10:g.36932458G>A	(Likely) benign	1 lab	48b3b643bc
2:179523005 TTN C>T	2	179523005	179523005	C	T	TTN	c.37705G>A	NM_001267550.2	NP_001254479.2:p.(Val12569Ile)	NC_000002.11:g.179523005C>T	(Likely) benign	1 lab	495dc6c871
15:42695935 CAPN3 A>G	15	42695935	42695935	A	G	CAPN3	c.1746-4A>G	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42695935A>G	(Likely) benign	1 lab	498b22010d
10:89473069 PAPSS2 T>G	10	89473069	89473069	T	G	PAPSS2	c.381+2T>G	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473069T>G	VUS	1 lab	499ba76e71
17:40354343 STAT5B A>G	17	40354343	40354343	A	G	STAT5B	c.2237+15T>C	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40354343A>G	(Likely) benign	1 lab	499c0528a3
3:128627021 ACAD9 A>G	3	128627021	128627021	A	G	ACAD9	c.1279-7A>G	NM_014049.5	NP_054768.2:p.?	NC_000003.11:g.128627021A>G	(Likely) benign	1 lab	49f2b90408
16:14540919 PARN C>T	16	14540919	14540919	C	T	PARN	c.1690G>A	NM_002582.4	NP_002573.1:p.(Val564Ile)	NC_000016.9:g.14540919C>T	(Likely) benign	1 lab	4a0fbad112
4:1968098 NSD2 A>ACGTACATT	4	1968098	1968099	A	ACGTACATT	NSD2	c.3372+5220_3372+5221insCGTACATT	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1968098_1968099insCGTACATT	(Likely) benign	1 lab	4a3a46d0b0
15:74472455 STRA6 G>A	15	74472455	74472455	G	A	STRA6	c.1970C>T	NM_022369.4	NP_071764.3:p.(Thr657Met)	NC_000015.9:g.74472455G>A	VUS	1 lab	4a435cd7a0
14:92473978 TRIP11 T>C	14	92473978	92473978	T	C	TRIP11	c.1527+6A>G	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92473978T>C	(Likely) benign	1 lab	4a59f33399
18:2697815 SMCHD1 C>T	18	2697815	2697815	C	T	SMCHD1	c.1132-14C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2697815C>T	(Likely) benign	1 lab	4a604f3367
4:155506948 FGA C>T	4	155506948	155506948	C	T	FGA	c.1633G>A	NM_021871.4	NP_068657.1:p.(Glu545Lys)	NC_000004.11:g.155506948C>T	VUS	1 lab	4a682f6899
19:18896345 COMP G>A	19	18896345	18896345	G	A	COMP	c.1680C>T	NM_000095.3	NP_000086.2:p.(Ile560=)	NC_000019.9:g.18896345G>A	(Likely) benign	1 lab	4ab9cb3b19
3:126724931 PLXNA1 G>A	3	126724931	126724931	G	A	PLXNA1	c.1907G>A	NM_032242.4	NP_115618.3:p.(Arg636Gln)	NC_000003.11:g.126724931G>A	VUS	1 lab	4ac3ffe5d8
2:182430784 CERKL C>T	2	182430784	182430784	C	T	CERKL	c.677+1G>A	NM_001030311.2	NP_001025482.1:p.?	NC_000002.11:g.182430784C>T	(Likely) pathogenic	1 lab	4ac8bca8d9
4:5809924 EVC C>G	4	5809924	5809924	C	G	EVC	c.2562-4C>G	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5809924C>G	(Likely) benign	1 lab	4ae5690333
6:36262153 PNPLA1 G>A	6	36262153	36262153	G	A	PNPLA1	c.691G>A	NM_001374623.1	NP_001361552.1:p.(Ala231Thr)	NC_000006.11:g.36262153G>A	(Likely) benign	1 lab	4aff2b5e17
7:37934147 NME8 A>T	7	37934147	37934147	A	T	NME8	c.1479A>T	NM_016616.5	NP_057700.3:p.(Ile493=)	NC_000007.13:g.37934147A>T	(Likely) benign	1 lab	4b231feeb9
10:88683222 BMPR1A C>T	10	88683222	88683222	C	T	BMPR1A	c.1432C>T	NM_004329.3	NP_004320.2:p.(Arg478Cys)	NC_000010.10:g.88683222C>T	VUS	1 lab	4bbc608140
19:1207052 STK11 G>A	19	1207052	1207052	G	A	STK11	c.140G>A	NM_000455.5	NP_000446.1:p.(Gly47Asp)	NC_000019.9:g.1207052G>A	VUS	1 lab	4be3e3dd28
15:90319655 MESP2 G>A	15	90319655	90319655	G	A	MESP2	c.67G>A	NM_001039958.2	NP_001035047.1:p.(Gly23Ser)	NC_000015.9:g.90319655G>A	VUS	1 lab	4be864e825
3:10074665 FANCD2 T>G	3	10074665	10074665	T	G	FANCD2	c.205+9T>G	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10074665T>G	(Likely) benign	1 lab	4c1e3407e4
2:162273028 TBR1 A>G	2	162273028	162273028	A	G	TBR1	c.107A>G	NM_006593.4	NP_006584.1:p.(Asp36Gly)	NC_000002.11:g.162273028A>G	VUS	1 lab	4c4ad584c6
8:102555474 GRHL2 A>G	8	102555474	102555474	A	G	GRHL2	c.26A>G	NM_024915.4	NP_079191.2:p.(Lys9Arg)	NC_000008.10:g.102555474A>G	(Likely) benign	1 lab	4c97f9d8a6
1:24194671 FUCA1 G>A	1	24194671	24194671	G	A	FUCA1	c.106C>T	NM_000147.5	NP_000138.2:p.(Arg36Cys)	NC_000001.10:g.24194671G>A	VUS	1 lab	4cbaead3b9
2:215674323 BARD1 C>A	2	215674323	215674323	C	A	BARD1	c.-30G>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674323C>A	(Likely) benign	1 lab	4d10084ab5
20:43255233 ADA G>A	20	43255233	43255233	G	A	ADA	c.226C>T	NM_000022.4	NP_000013.2:p.(Arg76Trp)	NC_000020.10:g.43255233G>A	VUS	1 lab	4d416b71c4
9:98278940 PTCH1 C>G	9	98278940	98278940	C	G	PTCH1	c.-187G>C	NM_001083602.1	NP_001077071.1:p.?	NC_000009.11:g.98278940C>G	(Likely) benign	1 lab	4d4db2e9db
2:84915666 DNAH6 C>T	2	84915666	84915666	C	T	DNAH6	c.7241C>T	NM_001370.2	NP_001361.1:p.(Pro2414Leu)	NC_000002.11:g.84915666C>T	VUS	1 lab	4d5a6ac1fe
7:30634749 GARS1 T>A	7	30634749	30634749	T	A	GARS1	c.212T>A	NM_002047.4	NP_002038.2:p.(Val71Glu)	NC_000007.13:g.30634749T>A	VUS	1 lab	4d9228a1a7
5:78076160 ARSB C>T	5	78076160	78076160	C	T	ARSB	c.*60G>A	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78076160C>T	(Likely) benign	1 lab	4e42968e49
21:45751788 CFAP410 C>CA	21	45751788	45751789	C	CA	CFAP410	c.482dup	NM_004928.3	NP_004919.1:p.(Ser162GlufsTer8)	NC_000021.8:g.45751789dup	(Likely) pathogenic	1 lab	4e4351fe7d
4:1805478 FGFR3 C>T	4	1805478	1805478	C	T	FGFR3	c.990C>T	NM_000142.5	NP_000133.1:p.(Thr330=)	NC_000004.11:g.1805478C>T	(Likely) benign	1 lab	4e8419331e
15:58357846 ALDH1A2 C>A	15	58357846	58357846	C	A	ALDH1A2	c.3G>T	NM_003888.4	NP_003879.2:p.(Met1?)	NC_000015.9:g.58357846C>A	VUS	1 lab	4ea3aee908
3:33155661 CRTAP A>ACAGCTTCCG	3	33155661	33155678	A	ACAGCTTCCG	CRTAP	c.101_109dup	NM_006371.5	NP_006362.1:p.(Arg34_Phe36dup)	NC_000003.11:g.33155670_33155678dup	VUS	1 lab	4eadb2197e
15:89872328 POLG C>T	15	89872328	89872328	C	T	POLG	c.869G>A	NM_002693.3	NP_002684.1:p.(Arg290His)	NC_000015.9:g.89872328C>T	VUS	1 lab	4eb9b687db
1:237754142 RYR2 A>G	1	237754142	237754142	A	G	RYR2	c.4010A>G	NM_001035.3	NP_001026.2:p.(Tyr1337Cys)	NC_000001.10:g.237754142A>G	VUS	1 lab	4faa9417f5
8:144998781 PLEC C>T	8	144998781	144998781	C	T	PLEC	c.5316G>A	NM_201384.3	NP_958786.1:p.(Ala1772=)	NC_000008.10:g.144998781C>T	(Likely) benign	1 lab	4ed45bb390
13:32912617 BRCA2 GGG>CCC	13	32912617	32912619	GGG	CCC	BRCA2	c.4125_4127inv	NM_000059.4	NP_000050.3:p.(Glu1375_Gly1376delinsAspPro)	NC_000013.10:g.32912617_32912619inv	(Likely) benign	1 lab	4efef461c8
20:31387951 DNMT3B C>G	20	31387951	31387951	C	G	DNMT3B	c.1760-8C>G	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31387951C>G	(Likely) benign	1 lab	4f09e19bfc
13:32914517 BRCA2 C>T	13	32914517	32914517	C	T	BRCA2	c.6025C>T	NM_000059.4	NP_000050.3:p.(Gln2009Ter)	NC_000013.10:g.32914517C>T	(Likely) pathogenic	1 lab	4f30c2e2fc
2:198266828 SF3B1 G>T	2	198266828	198266828	G	T	SF3B1	c.2104C>A	NM_012433.4	NP_036565.2:p.(Arg702=)	NC_000002.11:g.198266828G>T	(Likely) benign	1 lab	4f998c34f5
19:18899986 COMP C>T	19	18899986	18899986	C	T	COMP	c.511G>A	NM_000095.3	NP_000086.2:p.(Ala171Thr)	NC_000019.9:g.18899986C>T	(Likely) benign	1 lab	4ff9fe47e7
11:72145283 CLPB T>G	11	72145283	72145283	T	G	CLPB	c.236A>C	NM_001258392.3	NP_001245321.1:p.(Asp79Ala)	NC_000011.9:g.72145283T>G	VUS	1 lab	500324fb5d
9:135939856 CEL T>C	9	135939856	135939856	T	C	CEL	c.132T>C	NM_001807.6	NP_001798.3:p.(Gly44=)	NC_000009.11:g.135939856T>C	(Likely) benign	1 lab	5003b473b0
9:135947032 CEL C>A	9	135947032	135947032	C	A	CEL	c.2143C>A	NM_001807.6	NP_001798.3:p.(Pro715Thr)	NC_000009.11:g.135947032C>A	(Likely) benign	1 lab	501a36af66
2:152397232 NEB G>A	2	152397232	152397232	G	A	NEB	c.20766C>T	NM_001164508.2	NP_001157980.2:p.(Asp6922=)	NC_000002.11:g.152397232G>A	(Likely) benign	1 lab	50224ced8c
2:152420331 NEB A>G	2	152420331	152420331	A	G	NEB	c.18579+6T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152420331A>G	VUS	1 lab	5049dd4867
15:99454583 IGF1R C>T	15	99454583	99454583	C	T	IGF1R	c.1502C>T	NM_000875.5	NP_000866.1:p.(Ser501Leu)	NC_000015.9:g.99454583C>T	(Likely) benign	1 lab	5070d624c5
6:29638474 MOG T>C	6	29638474	29638474	T	C	MOG	c.710-4T>C	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29638474T>C	(Likely) benign	1 lab	5074d4cd9c
9:21333815 KLHL9 A>T	9	21333815	21333815	A	T	KLHL9	c.1044T>A	NM_018847.2	NP_061335.1:p.(Phe348Leu)	NC_000009.11:g.21333815A>T	(Likely) benign	1 lab	50a418dd5a
6:51701283 PKHD1 C>G	6	51701283	51701283	C	G	PKHD1	c.8108-16G>C	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51701283C>G	(Likely) benign	1 lab	50ae0a46a3
X:595475 SHOX C>A	X	595475	595475	C	A	SHOX	c.400C>A	NM_000451.3	NP_000442.1:p.(Arg134=)	NC_000023.10:g.595475C>A	(Likely) benign	1 lab	50c8604c73
15:99467831 IGF1R C>T	15	99467831	99467831	C	T	IGF1R	c.2700C>T	NM_000875.5	NP_000866.1:p.(Asn900=)	NC_000015.9:g.99467831C>T	(Likely) benign	1 lab	5102e93092
14:51219349 NIN G>A	14	51219349	51219349	G	A	NIN	c.4837C>T	NM_020921.4	NP_065972.4:p.(Arg1613Cys)	NC_000014.8:g.51219349G>A	(Likely) benign	1 lab	512e333749
5:126161669 LMNB1 G>T	5	126161669	126161669	G	T	LMNB1	c.1492-11G>T	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126161669G>T	(Likely) benign	1 lab	5180be2c8e
18:31323848 ASXL3 A>G	18	31323848	31323848	A	G	ASXL3	c.4036A>G	NM_030632.3	NP_085135.1:p.(Ile1346Val)	NC_000018.9:g.31323848A>G	(Likely) benign	1 lab	51c91f712e
15:99482421 IGF1R C>G	15	99482421	99482421	C	G	IGF1R	c.3298-9C>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99482421C>G	(Likely) benign	1 lab	52153b4d98
3:10081411 FANCD2 A>G	3	10081411	10081411	A	G	FANCD2	c.577A>G	NM_001018115.3	NP_001018125.1:p.(Thr193Ala)	NC_000003.11:g.10081411A>G	(Likely) benign	1 lab	5223f79c89
2:152346494 NEB A>C	2	152346494	152346494	A	C	NEB	c.25395T>G	NM_001164508.2	NP_001157980.2:p.(Ser8465=)	NC_000002.11:g.152346494A>C	(Likely) benign	1 lab	522d52cbdc
15:89392970 ACAN G>C	15	89392970	89392970	G	C	ACAN	c.2026+8G>C	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89392970G>C	(Likely) benign	1 lab	52690c7806
22:32272251 DEPDC5 G>T	22	32272251	32272251	G	T	DEPDC5	c.3805G>T	NM_001242896.1	NP_001229825.1:p.(Val1269Leu)	NC_000022.10:g.32272251G>T	(Likely) pathogenic	1 lab	5295b65565
7:73462531 ELN G>A	7	73462531	73462531	G	A	ELN	c.745G>A	NM_000501.4	NP_000492.2:p.(Gly249Arg)	NC_000007.13:g.73462531G>A	VUS	1 lab	52f5fecb7a
7:139661964 TBXAS1 C>G	7	139661964	139661964	C	G	TBXAS1	c.1066C>G	NM_001061.7	NP_001052.3:p.(Leu356Val)	NC_000007.13:g.139661964C>G	(Likely) benign	1 lab	52fd40e2e4
X:31676242 DMD C>T	X	31676242	31676242	C	T	DMD	c.7892G>A	NM_004006.3	NP_003997.2:p.(Arg2631His)	NC_000023.10:g.31676242C>T	VUS	1 lab	58df22236c
7:148511171 EZH2 C>T	7	148511171	148511171	C	T	EZH2	c.1731G>A	NM_004456.5	NP_004447.2:p.(Pro577=)	NC_000007.13:g.148511171C>T	(Likely) benign	1 lab	538aa3e5c9
X:14627122 GLRA2 C>T	X	14627122	14627122	C	T	GLRA2	c.725C>T	NM_002063.4	NP_002054.1:p.(Thr242Ile)	NC_000023.10:g.14627122C>T	(Likely) pathogenic	1 lab	5396638aab
19:41838146 TGFB1 C>G	19	41838146	41838146	C	G	TGFB1	c.901G>C	NM_000660.7	NP_000651.3:p.(Asp301His)	NC_000019.9:g.41838146C>G	VUS	1 lab	53b2c789a7
12:133237569 POLE C>T	12	133237569	133237569	C	T	POLE	c.3046G>A	NM_006231.4	NP_006222.2:p.(Val1016Met)	NC_000012.11:g.133237569C>T	VUS	1 lab	53b2f75897
7:143042819 CLCN1 T>C	7	143042819	143042819	T	C	CLCN1	c.2136T>C	NM_000083.3	NP_000074.3:p.(Asp712=)	NC_000007.13:g.143042819T>C	(Likely) benign	1 lab	53baf7e729
9:124064278 GSN A>G	9	124064278	124064278	A	G	GSN	c.29A>G	NM_198252.3	NP_937895.1:p.(Lys10Arg)	NC_000009.11:g.124064278A>G	(Likely) benign	1 lab	53bb68e3fd
17:41245589 BRCA1 T>C	17	41245589	41245589	T	C	BRCA1	c.1959A>G	NM_007294.4	NP_009225.1:p.(Lys653=)	NC_000017.10:g.41245589T>C	(Likely) benign	1 lab	53e36c8be7
20:5932650 MCM8 C>T	20	5932650	5932650	C	T	MCM8	c.-5-7C>T	NM_032485.6	NP_115874.3:p.?	NC_000020.10:g.5932650C>T	(Likely) benign	1 lab	53ec68d824
15:89399080 ACAN C>T	15	89399080	89399080	C	T	ACAN	c.3264C>T	NM_001369268.1	NP_001356197.1:p.(Ser1088=)	NC_000015.9:g.89399080C>T	VUS	1 lab	53edb23457
17:61995300 GH1 G>C	17	61995300	61995300	G	C	GH1	c.292-16C>G	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995300G>C	(Likely) benign	1 lab	5405d83136
17:39739631 KRT14 A>G	17	39739631	39739631	A	G	KRT14	c.1130T>C	NM_000526.5	NP_000517.3:p.(Ile377Thr)	NC_000017.10:g.39739631A>G	(Likely) pathogenic	1 lab	5444e0cb3a
19:46915182 CCDC8 C>T	19	46915182	46915182	C	T	CCDC8	c.886G>A	NM_032040.5	NP_114429.2:p.(Gly296Arg)	NC_000019.9:g.46915182C>T	(Likely) benign	1 lab	544e0bd33f
3:58084539 FLNB G>A	3	58084539	58084539	G	A	FLNB	c.1249G>A	NM_001457.4	NP_001448.2:p.(Val417Met)	NC_000003.11:g.58084539G>A	VUS	1 lab	544ec6e418
5:149310665 PDE6A C>T	5	149310665	149310665	C	T	PDE6A	c.784G>A	NM_000440.3	NP_000431.2:p.(Ala262Thr)	NC_000005.9:g.149310665C>T	VUS	1 lab	54cf2942d7
2:172291675 DCAF17 A>G	2	172291675	172291675	A	G	DCAF17	c.209A>G	NM_025000.4	NP_079276.2:p.(Asn70Ser)	NC_000002.11:g.172291675A>G	VUS	1 lab	5538d52771
7:56087379 PSPH T>C	7	56087379	56087379	T	C	PSPH	c.189A>G	NM_004577.4	NP_004568.2:p.(Thr63=)	NC_000007.13:g.56087379T>C	(Likely) benign	1 lab	55d5e2f2dc
21:47552386 COL6A2 G>A	21	47552386	47552386	G	A	COL6A2	c.2980G>A	NM_001849.4	NP_001840.3:p.(Ala994Thr)	NC_000021.8:g.47552386G>A	(Likely) benign	1 lab	55e16023a7
15:101791453 CHSY1 A>C	15	101791453	101791453	A	C	CHSY1	c.209T>G	NM_014918.5	NP_055733.2:p.(Leu70Arg)	NC_000015.9:g.101791453A>C	(Likely) benign	1 lab	55ea631a7b
17:61996130 GH1 T>C	17	61996130	61996130	T	C	GH1	c.7A>G	NM_000515.5	NP_000506.2:p.(Thr3Ala)	NC_000017.10:g.61996130T>C	(Likely) benign	1 lab	5610f606c6
9:94487134 ROR2 G>A	9	94487134	94487134	G	A	ROR2	c.1642C>T	NM_004560.4	NP_004551.2:p.(Pro548Ser)	NC_000009.11:g.94487134G>A	(Likely) benign	1 lab	56ae16d091
19:51883834 LIM2 G>A	19	51883834	51883834	G	A	LIM2	c.385C>T	NM_001161748.2	NP_001155220.1:p.(Arg129Cys)	NC_000019.9:g.51883834G>A	VUS	1 lab	56bca09572
15:89401737 ACAN T>C	15	89401737	89401737	T	C	ACAN	c.5921T>C	NM_001369268.1	NP_001356197.1:p.(Met1974Thr)	NC_000015.9:g.89401737T>C	(Likely) benign	1 lab	56c11b8119
22:41545134 EP300 A>G	22	41545134	41545134	A	G	EP300	c.2334A>G	NM_001429.4	NP_001420.2:p.(Thr778=)	NC_000022.10:g.41545134A>G	(Likely) benign	1 lab	56f5734071
9:135946052 CEL C>T	9	135946052	135946052	C	T	CEL	c.1484+7C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135946052C>T	(Likely) benign	1 lab	5727e5e4ad
17:59533955 TBX4 C>T	17	59533955	59533955	C	T	TBX4	c.104C>T	NM_001321120.2	NP_001308049.1:p.(Ala35Val)	NC_000017.10:g.59533955C>T	(Likely) benign	1 lab	574c9ee263
19:18893878 COMP C>T	19	18893878	18893878	C	T	COMP	c.2213G>A	NM_000095.3	NP_000086.2:p.(Arg738His)	NC_000019.9:g.18893878C>T	(Likely) pathogenic	1 lab	576360510d
18:19762709 GATA6 A>T	18	19762709	19762709	A	T	GATA6	c.1429-9A>T	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19762709A>T	(Likely) benign	1 lab	577e841656
12:66232355 HMGA2 T>A	12	66232355	66232355	T	A	HMGA2	c.249+6T>A	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66232355T>A	(Likely) benign	1 lab	57a4042323
22:36705447 MYH9 G>A	22	36705447	36705447	G	A	MYH9	c.1729-6C>T	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36705447G>A	(Likely) benign	1 lab	57abce6e10
17:7572927 TP53 TCA>T	17	7572927	7572929	TCA	T	TP53	c.1180_1181del	NM_000546.6	NP_000537.3:p.(Ter394ThrextTer75)	NC_000017.10:g.7572928_7572929del	(Likely) pathogenic	1 lab	57b2b12cc1
20:31395556 DNMT3B C>T	20	31395556	31395556	C	T	DNMT3B	c.2421-12C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31395556C>T	(Likely) benign	1 lab	57cd96da17
3:4508718 SUMF1 G>A	3	4508718	4508718	G	A	SUMF1	c.212C>T	NM_182760.4	NP_877437.2:p.(Ser71Leu)	NC_000003.11:g.4508718G>A	VUS	1 lab	585775f6ee
3:58140563 FLNB C>G	3	58140563	58140563	C	G	FLNB	c.6680C>G	NM_001457.4	NP_001448.2:p.(Ser2227Cys)	NC_000003.11:g.58140563C>G	(Likely) benign	1 lab	58b034f076
19:13411452 CACNA1A C>A	19	13411452	13411452	C	A	CACNA1A	c.2191G>T	NM_001127222.2	NP_001120694.1:p.(Glu731Ter)	NC_000019.9:g.13411452C>A	(Likely) pathogenic	1 lab	59024d01c2
16:2167852 PKD1 C>T	16	2167852	2167852	C	T	PKD1	c.1141G>A	NM_001009944.3	NP_001009944.3:p.(Gly381Ser)	NC_000016.9:g.2167852C>T	(Likely) pathogenic	1 lab	592a39cd89
5:36985576 NIPBL G>A	5	36985576	36985576	G	A	NIPBL	c.2294G>A	NM_133433.4	NP_597677.2:p.(Arg765Lys)	NC_000005.9:g.36985576G>A	(Likely) benign	1 lab	592aab14d1
20:9401940 PLCB4 A>G	20	9401940	9401940	A	G	PLCB4	c.2155-4A>G	NM_001172646.2	NP_001166117.1:p.?	NC_000020.10:g.9401940A>G	(Likely) benign	1 lab	59d25e20fc
14:102476662 DYNC1H1 C>T	14	102476662	102476662	C	T	DYNC1H1	c.6271C>T	NM_001376.5	NP_001367.2:p.(Arg2091Trp)	NC_000014.8:g.102476662C>T	(Likely) pathogenic	1 lab	59da09255b
1:27094338 ARID1A G>A	1	27094338	27094338	G	A	ARID1A	c.3046G>A	NM_006015.6	NP_006006.3:p.(Gly1016Ser)	NC_000001.10:g.27094338G>A	(Likely) benign	1 lab	59e3d57c90
X:48340012 FTSJ1 C>T	X	48340012	48340012	C	T	FTSJ1	c.572-8C>T	NM_012280.4	NP_036412.1:p.?	NC_000023.10:g.48340012C>T	(Likely) benign	1 lab	5a1ffbd785
X:43809101 NDP G>A	X	43809101	43809101	G	A	NDP	c.346C>T	NM_000266.4	NP_000257.1:p.(Leu116Phe)	NC_000023.10:g.43809101G>A	VUS	1 lab	5a360ef01d
1:155197154 MISSING 155207998>DEL	1	155197154	155207998	155207998	DEL	MISSING				NC_000001.10:g.155197154_155207998del	(Likely) pathogenic	1 lab	5a55fe97f6
1:26795600 DHDDS G>A	1	26795600	26795600	G	A	DHDDS	c.980G>A	NM_205861.3	NP_995583.1:p.(Arg327His)	NC_000001.10:g.26795600G>A	VUS	1 lab	5aabb50192
15:99467177 IGF1R C>T	15	99467177	99467177	C	T	IGF1R	c.2558C>T	NM_000875.5	NP_000866.1:p.(Pro853Leu)	NC_000015.9:g.99467177C>T	(Likely) benign	1 lab	5af0570354
10:89473068 PAPSS2 G>GGAA	10	89473068	89473069	G	GGAA	PAPSS2	c.381+1_381+2insGAA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068_89473069insGAA	VUS	1 lab	5b088013c8
9:118997645 PAPPA G>A	9	118997645	118997645	G	A	PAPPA	c.2461G>A	NM_002581.5	NP_002572.2:p.(Val821Ile)	NC_000009.11:g.118997645G>A	(Likely) benign	1 lab	5b0fd68de8
2:219919971 IHH C>G	2	219919971	219919971	C	G	IHH	c.1194G>C	NM_002181.4	NP_002172.2:p.(Glu398Asp)	NC_000002.11:g.219919971C>G	(Likely) benign	1 lab	5b975bd211
9:135946750 CEL T>G	9	135946750	135946750	T	G	CEL	c.1861T>G	NM_001807.6	NP_001798.3:p.(Ser621Ala)	NC_000009.11:g.135946750T>G	(Likely) benign	1 lab	5bb3fa4486
9:135946821 CEL G>C	9	135946821	135946821	G	C	CEL	c.1932G>C	NM_001807.6	NP_001798.3:p.(Gly644=)	NC_000009.11:g.135946821G>C	(Likely) benign	1 lab	5c0b76dcda
3:37056038 MLH1 A>C	3	37056038	37056038	A	C	MLH1	c.790+3A>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37056038A>C	(Likely) pathogenic	1 lab	5c0da48e28
20:5953815 MCM8 A>G	20	5953815	5953815	A	G	MCM8	c.1368A>G	NM_032485.6	NP_115874.3:p.(Pro456=)	NC_000020.10:g.5953815A>G	(Likely) benign	1 lab	5c2690dfb8
1:39951338 MACF1 A>G	1	39951338	39951338	A	G	MACF1	c.16165A>G	NM_012090.5	NP_036222.3:p.(Thr5389Ala)	NC_000001.10:g.39951338A>G	VUS	1 lab	5c969e992f
1:156104702 LMNA G>T	1	156104702	156104702	G	T	LMNA	c.746G>T	NM_170707.4	NP_733821.1:p.(Arg249Leu)	NC_000001.10:g.156104702G>T	VUS	1 lab	5cb20ea3a9
X:48890987 TFE3 T>C	X	48890987	48890987	T	C	TFE3	c.1129A>G	NM_006521.6	NP_006512.2:p.(Ser377Gly)	NC_000023.10:g.48890987T>C	VUS	1 lab	5cdf0d2043
19:38956840 RYR1 G>T	19	38956840	38956840	G	T	RYR1	c.2980G>T	NM_000540.3	NP_000531.2:p.(Val994Leu)	NC_000019.9:g.38956840G>T	VUS	1 lab	5ce17a69b7
9:140611422 EHMT1 G>T	9	140611422	140611422	G	T	EHMT1	c.430G>T	NM_024757.5	NP_079033.4:p.(Ala144Ser)	NC_000009.11:g.140611422G>T	(Likely) benign	1 lab	5d0b06ae74
17:59763242 BRIP1 TG>T	17	59763242	59763244	TG	T	BRIP1	c.2859del	NM_032043.3	NP_114432.2:p.(Asn955IlefsTer30)	NC_000017.10:g.59763244del	VUS	1 lab	5d10354490
2:170092466 LRP2 C>T	2	170092466	170092466	C	T	LRP2	c.4804G>A	NM_004525.3	NP_004516.2:p.(Gly1602Ser)	NC_000002.11:g.170092466C>T	VUS	1 lab	5d1d1d68f8
11:111963821 SDHD C>T	11	111963821	111963821	C	T	SDHD	c.315-1708C>T	NM_003002.4	NP_002993.1:p.?	NC_000011.9:g.111963821C>T	(Likely) benign	1 lab	5d2fe00059
10:89473068 PAPSS2 G>GGAAA	10	89473068	89473069	G	GGAAA	PAPSS2	c.381+1_381+2insGAAA	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068_89473069insGAAA	VUS	1 lab	5d384658b3
10:89472962 PAPSS2 T>C	10	89472962	89472962	T	C	PAPSS2	c.276T>C	NM_001015880.2	NP_001015880.1:p.(Ser92=)	NC_000010.10:g.89472962T>C	(Likely) benign	1 lab	5dc9318bce
2:152468776 NEB T>C	2	152468776	152468776	T	C	NEB	c.11729A>G	NM_001164508.2	NP_001157980.2:p.(Asp3910Gly)	NC_000002.11:g.152468776T>C	(Likely) benign	1 lab	5de36195f8
5:79968680 MSH3 A>T	5	79968680	79968680	A	T	MSH3	c.1027+3A>T	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79968680A>T	VUS	1 lab	9e420201c5
7:98506446 TRRAP A>G	7	98506446	98506446	A	G	TRRAP	c.1211A>G	NM_001375524.1	NP_001362453.1:p.(Lys404Arg)	NC_000007.13:g.98506446A>G	VUS	1 lab	5e578518f6
5:14405966 TRIO A>G	5	14405966	14405966	A	G	TRIO	c.4726A>G	NM_007118.4	NP_009049.2:p.(Ile1576Val)	NC_000005.9:g.14405966A>G	(Likely) benign	1 lab	5e65c50854
X:39932433 BCOR C>G	X	39932433	39932433	C	G	BCOR	c.2166G>C	NM_001123385.2	NP_001116857.1:p.(Leu722Phe)	NC_000023.10:g.39932433C>G	VUS	1 lab	5e86db17ba
11:17474684 ABCC8 G>A	11	17474684	17474684	G	A	ABCC8	c.1158C>T	NM_000352.6	NP_000343.2:p.(Asn386=)	NC_000011.9:g.17474684G>A	(Likely) benign	1 lab	5e8bec7bd1
22:40078580 CACNA1I C>T	22	40078580	40078580	C	T	CACNA1I	c.5744C>T	NM_021096.4	NP_066919.2:p.(Ser1915Leu)	NC_000022.10:g.40078580C>T	(Likely) benign	1 lab	5ee11a51c1
13:33629393 KL C>T	13	33629393	33629393	C	T	KL	c.1540C>T	NM_004795.4	NP_004786.2:p.(Pro514Ser)	NC_000013.10:g.33629393C>T	(Likely) benign	1 lab	5eeb12fd11
12:56115071 RDH5 G>A	12	56115071	56115071	G	A	RDH5				NC_000012.11:g.56115071G>A	(Likely) pathogenic	1 lab	5eec1fa511
8:10469907 RP1L1 CT>C	8	10469907	10469908	CT	C	RP1L1	c.1700del	NM_178857.6	NP_849188.4:p.(Glu567GlyfsTer13)	NC_000008.10:g.10469908del	(Likely) pathogenic	1 lab	5f43340ec5
10:89503368 PAPSS2 G>A	10	89503368	89503368	G	A	PAPSS2	c.1461G>A	NM_001015880.2	NP_001015880.1:p.(Pro487=)	NC_000010.10:g.89503368G>A	(Likely) benign	1 lab	5f4714763d
9:135946992 CEL C>T	9	135946992	135946992	C	T	CEL	c.2103C>T	NM_001807.6	NP_001798.3:p.(Pro701=)	NC_000009.11:g.135946992C>T	(Likely) benign	1 lab	5fbbf0255b
4:1806629 FGFR3 C>T	4	1806629	1806629	C	T	FGFR3	c.1345C>T	NM_000142.5	NP_000133.1:p.(Pro449Ser)	NC_000004.11:g.1806629C>T	(Likely) benign	1 lab	5fc5d945de
8:48711857 PRKDC C>T	8	48711857	48711857	C	T	PRKDC	c.10211G>A	NM_006904.7	NP_008835.5:p.(Gly3404Glu)	NC_000008.10:g.48711857C>T	(Likely) benign	1 lab	60185bf484
15:89398206 ACAN A>G	15	89398206	89398206	A	G	ACAN	c.2390A>G	NM_001369268.1	NP_001356197.1:p.(Glu797Gly)	NC_000015.9:g.89398206A>G	(Likely) benign	1 lab	6020e90aed
3:126736356 PLXNA1 G>A	3	126736356	126736356	G	A	PLXNA1	c.3365G>A	NM_032242.4	NP_115618.3:p.(Arg1122Gln)	NC_000003.11:g.126736356G>A	VUS	1 lab	6029239ff6
1:19228971 ALDH4A1 G>A	1	19228971	19228971	G	A	ALDH4A1	c.47C>T	NM_003748.4	NP_003739.2:p.(Pro16Leu)	NC_000001.10:g.19228971G>A	(Likely) benign	1 lab	6032aaf7c1
17:40359564 STAT5B G>A	17	40359564	40359564	G	A	STAT5B	c.2077+12C>T	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40359564G>A	(Likely) benign	1 lab	60750f92f3
19:5694912 LONP1 G>A	19	5694912	5694912	G	A	LONP1	c.2014C>T	NM_004793.4	NP_004784.2:p.(Arg672Cys)	NC_000019.9:g.5694912G>A	(Likely) pathogenic	1 lab	60dac059eb
17:7756717 KDM6B C>T	17	7756717	7756717	C	T	KDM6B	c.4908+19C>T	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7756717C>T	VUS	1 lab	60e32b84f8
18:31324051 ASXL3 C>T	18	31324051	31324051	C	T	ASXL3	c.4239C>T	NM_030632.3	NP_085135.1:p.(Val1413=)	NC_000018.9:g.31324051C>T	(Likely) benign	1 lab	61072d3989
16:3779449 CREBBP G>A	16	3779449	3779449	G	A	CREBBP	c.5599C>T	NM_004380.2	NP_004371.2:p.(Arg1867Trp)	NC_000016.9:g.3779449G>A	(Likely) pathogenic	1 lab	6124323b38
2:167168014 SCN9A TG>T	2	167168014	167168015	TG	T	SCN9A	c.252del	NM_001365536.1	NP_001352465.1:p.(Asp84GlufsTer6)	NC_000002.11:g.167168015del	VUS	1 lab	613629a6be
9:21969809 CDKN2A G>C	9	21969809	21969809	G	C	CDKN2A	c.457+1092C>G	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21969809G>C	(Likely) benign	1 lab	616b58bba8
15:73617728 HCN4 G>A	15	73617728	73617728	G	A	HCN4	c.1648C>T	NM_005477.3	NP_005468.1:p.(Arg550Cys)	NC_000015.9:g.73617728G>A	VUS	1 lab	6185effbed
11:108099999 ATM A>G	11	108099999	108099999	A	G	ATM	c.280A>G	NM_000051.4	NP_000042.3:p.(Met94Val)	NC_000011.9:g.108099999A>G	VUS	1 lab	61998d8249
1:235920740 LYST C>T	1	235920740	235920740	C	T	LYST	c.6900G>A	NM_000081.4	NP_000072.2:p.(Leu2300=)	NC_000001.10:g.235920740C>T	(Likely) benign	1 lab	61bf60c7e2
11:108126941 ATM GA>G	11	108126941	108126942	GA	G	ATM	c.2125del	NM_000051.4	NP_000042.3:p.(Ile709LeufsTer26)	NC_000011.9:g.108126942del	(Likely) pathogenic	1 lab	61cb40e9ab
2:189945747 COL5A2 G>A	2	189945747	189945747	G	A	COL5A2	c.875C>T	NM_000393.5	NP_000384.2:p.(Ala292Val)	NC_000002.11:g.189945747G>A	VUS	1 lab	62ef071e0a
11:4104103 STIM1 T>C	11	4104103	4104103	T	C	STIM1	c.1138-9T>C	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4104103T>C	(Likely) benign	1 lab	62690f6071
17:59876581 BRIP1 C>T	17	59876581	59876581	C	T	BRIP1	c.1220G>A	NM_032043.3	NP_114432.2:p.(Ser407Asn)	NC_000017.10:g.59876581C>T	VUS	1 lab	627043cfb0
11:68125269 LRP5 G>A	11	68125269	68125269	G	A	LRP5	c.640G>A	NM_002335.4	NP_002326.2:p.(Ala214Thr)	NC_000011.9:g.68125269G>A	(Likely) pathogenic	1 lab	62b2393656
3:38936346 SCN11A C>T	3	38936346	38936346	C	T	SCN11A	c.2513G>A	NM_014139.3	NP_054858.2:p.(Arg838Gln)	NC_000003.11:g.38936346C>T	VUS	1 lab	62e2235c0f
15:89392916 ACAN G>A	15	89392916	89392916	G	A	ACAN	c.1980G>A	NM_001369268.1	NP_001356197.1:p.(Thr660=)	NC_000015.9:g.89392916G>A	(Likely) benign	1 lab	62f1b34b0e
17:7577544 TP53 A>C	17	7577544	7577544	A	C	TP53	c.737T>G	NM_000546.6	NP_000537.3:p.(Met246Arg)	NC_000017.10:g.7577544A>C	(Likely) pathogenic	1 lab	63576281bc
13:111109669 COL4A2 C>CGTCTGCGTGGG	13	111109669	111109670	C	CGTCTGCGTGGG	COL4A2	c.1340-21_1340-20insGTCTGCGTGGG	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109669_111109670insGTCTGCGTGGG	(Likely) benign	1 lab	639fefb8a3
5:236628 SDHA C>T	5	236628	236628	C	T	SDHA	c.1346C>T	NM_004168.4	NP_004159.2:p.(Ala449Val)	NC_000005.9:g.236628C>T	VUS	1 lab	63f3c07d0f
2:179629340 TTN G>T	2	179629340	179629340	G	T	TTN	c.9902C>A	NM_001267550.2	NP_001254479.2:p.(Ala3301Asp)	NC_000002.11:g.179629340G>T	VUS	1 lab	641cb6b9e2
20:43036134 HNF4A C>T	20	43036134	43036134	C	T	HNF4A	c.385+19C>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43036134C>T	(Likely) benign	1 lab	642b94e47c
2:29295045 PCARE C>T	2	29295045	29295045	C	T	PCARE	c.2083G>A	NM_001029883.3	NP_001025054.1:p.(Glu695Lys)	NC_000002.11:g.29295045C>T	VUS	1 lab	64594c0bbd
8:17915126 ASAH1 C>T	8	17915126	17915126	C	T	ASAH1	c.1105G>A	NM_177924.5	NP_808592.2:p.(Val369Ile)	NC_000008.10:g.17915126C>T	(Likely) benign	1 lab	645eb4499c
13:32912618 BRCA2 GG>AA	13	32912618	32912619	GG	AA	BRCA2	c.4126_4127delinsAA	NM_000059.4	NP_000050.3:p.(Gly1376Lys)	NC_000013.10:g.32912618_32912619delinsAA	(Likely) benign	1 lab	6472f85463
11:76903291 MYO7A G>A	11	76903291	76903291	G	A	MYO7A	c.4120G>A	NM_000260.4	NP_000251.3:p.(Gly1374Arg)	NC_000011.9:g.76903291G>A	VUS	1 lab	64c5131858
5:138857925 STING1 C>G	5	138857925	138857925	C	G	STING1	c.689G>C	NM_198282.3	NP_938023.1:p.(Gly230Ala)	NC_000005.9:g.138857925C>G	(Likely) benign	1 lab	6539b7a02c
3:58491010 ACOX2 TCTC>T	3	58491010	58491015	TCTC	T	ACOX2	c.1984_1986del	NM_003500.4	NP_003491.1:p.(Glu662del)	NC_000003.11:g.58491013_58491015del	VUS	1 lab	6552735a87
9:135944195 CEL C>T	9	135944195	135944195	C	T	CEL	c.1032C>T	NM_001807.6	NP_001798.3:p.(Phe344=)	NC_000009.11:g.135944195C>T	(Likely) benign	1 lab	655e016acb
18:2705674 SMCHD1 T>A	18	2705674	2705674	T	A	SMCHD1	c.1843-18T>A	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2705674T>A	(Likely) benign	1 lab	66667f5ade
3:10115047 FANCD2 G>A	3	10115047	10115047	G	A	FANCD2	c.2715+1G>A	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10115047G>A	(Likely) pathogenic	1 lab	658bbce61b
5:112175570 APC C>CTA	5	112175570	112175571	C	CTA	APC	c.4279_4280insTA	NM_000038.6	NP_000029.2:p.(Pro1427LeufsTer47)	NC_000005.9:g.112175570_112175571insTA	(Likely) pathogenic	1 lab	658fd9438c
5:79950708 DHFR T>TGCAGCGGCC	5	79950708	79950732	T	TGCAGCGGCC	DHFR	c.-409_-401dup	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950724_79950732dup	VUS	1 lab	65fd76dd17
19:17943383 JAK3 G>A	19	17943383	17943383	G	A	JAK3	c.2625C>T	NM_000215.4	NP_000206.2:p.(Leu875=)	NC_000019.9:g.17943383G>A	(Likely) benign	1 lab	66740c8d24
2:215645416 BARD1 T>C	2	215645416	215645416	T	C	BARD1	c.1182A>G	NM_000465.4	NP_000456.2:p.(Thr394=)	NC_000002.11:g.215645416T>C	VUS	1 lab	667492da17
6:51732803 PKHD1 G>A	6	51732803	51732803	G	A	PKHD1	c.7591C>T	NM_138694.4	NP_619639.3:p.(Leu2531=)	NC_000006.11:g.51732803G>A	(Likely) benign	1 lab	667a025d52
22:24718277 SPECC1L T>G	22	24718277	24718277	T	G	SPECC1L	c.1329T>G	NM_015330.6	NP_056145.5:p.(Val443=)	NC_000022.10:g.24718277T>G	(Likely) benign	1 lab	66b42bb707
5:58285574 PDE4D A>G	5	58285574	58285574	A	G	PDE4D	c.1452+8T>C	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58285574A>G	(Likely) benign	1 lab	66d376f334
5:89923409 ADGRV1 C>A	5	89923409	89923409	C	A	ADGRV1	c.1054C>A	NM_032119.3	NP_115495.3:p.(Pro352Thr)	NC_000005.9:g.89923409C>A	(Likely) pathogenic	1 lab	66e2c03358
2:179482124 TTN AATT>A	2	179482124	179482129	AATT	A	TTN	c.47685_47687del	NM_001267550.2	NP_001254479.2:p.(Ile15896del)	NC_000002.11:g.179482127_179482129del	(Likely) pathogenic	1 lab	66e777b518
15:89383388 ACAN C>T	15	89383388	89383388	C	T	ACAN	c.600C>T	NM_001369268.1	NP_001356197.1:p.(Asp200=)	NC_000015.9:g.89383388C>T	(Likely) benign	1 lab	66f51faed0
X:85119795 CHM T>C	X	85119795	85119795	T	C	CHM	c.1802A>G	NM_000390.4	NP_000381.1:p.(Asn601Ser)	NC_000023.10:g.85119795T>C	(Likely) benign	1 lab	66f5b8c492
5:146788328 DPYSL3 G>A	5	146788328	146788328	G	A	DPYSL3	c.995C>T	NM_001197294.2	NP_001184223.1:p.(Thr332Ile)	NC_000005.9:g.146788328G>A	VUS	1 lab	6705d7e3f1
8:70536398 SULF1 G>C	8	70536398	70536398	G	C	SULF1	c.1816G>C	NM_001128205.2	NP_001121677.1:p.(Val606Leu)	NC_000008.10:g.70536398G>C	VUS	1 lab	6784a05718
16:2147997 PKD1 G>C	16	2147997	2147997	G	C	PKD1	c.10051-12C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147997G>C	VUS	1 lab	678949f78c
7:45113046 CCM2 CA>C	7	45113046	45113047	CA	C	CCM2	c.804-12del	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45113047del	(Likely) benign	1 lab	68088e9bbc
7:92122344 PEX1 C>T	7	92122344	92122344	C	T	PEX1	c.3130G>A	NM_000466.3	NP_000457.1:p.(Gly1044Arg)	NC_000007.13:g.92122344C>T	VUS	1 lab	68cf293c99
20:31022765 ASXL1 C>T	20	31022765	31022765	C	T	ASXL1	c.2250C>T	NM_015338.6	NP_056153.2:p.(Pro750=)	NC_000020.10:g.31022765C>T	(Likely) benign	1 lab	69159f4475
16:2158853 PKD1 TGTGTCCTGCCCTG>T	16	2158853	2158867	TGTGTCCTGCCCTG	T	PKD1	c.6302_6314del	NM_001009944.3	NP_001009944.3:p.(Pro2101GlnfsTer11)	NC_000016.9:g.2158855_2158867del	(Likely) pathogenic	1 lab	691f6d0437
2:71778829 DYSF G>A	2	71778829	71778829	G	A	DYSF	c.1785G>A	NM_001130987.2	NP_001124459.1:p.(Ala595=)	NC_000002.11:g.71778829G>A	(Likely) benign	1 lab	693c5c0d13
7:31013765 GHRHR G>A	7	31013765	31013765	G	A	GHRHR	c.751+12G>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013765G>A	(Likely) benign	1 lab	693eeb5392
16:1841329 IGFALS C>T	16	1841329	1841329	C	T	IGFALS	c.1090G>A	NM_004970.3	NP_004961.1:p.(Val364Met)	NC_000016.9:g.1841329C>T	VUS	1 lab	693f193b44
6:117250076 RFX6 G>T	6	117250076	117250076	G	T	RFX6	c.2553G>T	NM_173560.4	NP_775831.2:p.(Gln851His)	NC_000006.11:g.117250076G>T	VUS	1 lab	6950104127
15:48766479 FBN1 A>G	15	48766479	48766479	A	G	FBN1	c.4183T>C	NM_000138.5	NP_000129.3:p.(Tyr1395His)	NC_000015.9:g.48766479A>G	VUS	1 lab	6969408591
7:143028628 CLCN1 T>C	7	143028628	143028628	T	C	CLCN1	c.1065-16T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143028628T>C	(Likely) benign	1 lab	696ef80379
16:2220731 TRAF7 G>A	16	2220731	2220731	G	A	TRAF7	c.348G>A	NM_032271.3	NP_115647.2:p.(Pro116=)	NC_000016.9:g.2220731G>A	VUS	1 lab	69a25a8ccb
3:172162980 GHSR C>T	3	172162980	172162980	C	T	GHSR	c.1072G>A	NM_198407.2	NP_940799.1:p.(Ala358Thr)	NC_000003.11:g.172162980C>T	(Likely) benign	1 lab	69a54462b0
2:203420138 BMPR2 C>T	2	203420138	203420138	C	T	BMPR2	c.1750C>T	NM_001204.7	NP_001195.2:p.(Arg584Ter)	NC_000002.11:g.203420138C>T	(Likely) pathogenic	1 lab	69cf2a0805
12:102811624 IGF1 G>T	12	102811624	102811624	G	T	IGF1	c.402+1663C>A	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102811624G>T	(Likely) benign	1 lab	6a057d93cf
22:50967905 TYMP GC>G	22	50967905	50967908	GC	G	TYMP	c.214+19del	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50967908del	(Likely) benign	1 lab	6a06bd348b
19:50912418 POLD1 C>G	19	50912418	50912418	C	G	POLD1	c.1932C>G	NM_002691.4	NP_002682.2:p.(Asp644Glu)	NC_000019.9:g.50912418C>G	(Likely) benign	1 lab	6a249e3928
20:1961320 PDYN C>A	20	1961320	1961320	C	A	PDYN	c.414G>T	NM_024411.4	NP_077722.1:p.(Arg138Ser)	NC_000020.10:g.1961320C>A	VUS	1 lab	6a8d3b7e3e
16:67691515 ACD C>A	16	67691515	67691515	C	A	ACD	c.1371G>T	NM_001082486.2	NP_001075955.2:p.(Pro457=)	NC_000016.9:g.67691515C>A	(Likely) benign	1 lab	6a93e6e535
15:89402509 ACAN G>A	15	89402509	89402509	G	A	ACAN	c.6693G>A	NM_001369268.1	NP_001356197.1:p.(Glu2231=)	NC_000015.9:g.89402509G>A	(Likely) benign	1 lab	6b99187245
1:52838992 ORC1 A>G	1	52838992	52838992	A	G	ORC1	c.2447T>C	NM_004153.4	NP_004144.2:p.(Met816Thr)	NC_000001.10:g.52838992A>G	(Likely) benign	1 lab	6abcf617ec
12:7053145 C12orf57 G>A	12	7053145	7053145	G	A	C12orf57	c.-15-125G>A	NM_001301834.1	NP_001288763.1:p.?	NC_000012.11:g.7053145G>A	VUS	1 lab	6ac8f4e53f
1:236898958 ACTN2 G>A	1	236898958	236898958	G	A	ACTN2	c.721G>A	NM_001103.4	NP_001094.1:p.(Asp241Asn)	NC_000001.10:g.236898958G>A	VUS	1 lab	6b01420155
9:136419761 ADAMTSL2 G>A	9	136419761	136419761	G	A	ADAMTSL2	c.1222G>A	NM_014694.4	NP_055509.2:p.(Glu408Lys)	NC_000009.11:g.136419761G>A	(Likely) benign	1 lab	6b98cec276
12:15035919 MGP T>C	12	15035919	15035919	T	C	MGP	c.157A>G	NM_000900.5	NP_000891.2:p.(Lys53Glu)	NC_000012.11:g.15035919T>C	(Likely) benign	1 lab	6bb38d8230
3:10088308 FANCD2 T>C	3	10088308	10088308	T	C	FANCD2	c.1179T>C	NM_033084.6	NP_149075.2:p.(Thr393=)	NC_000003.11:g.10088308T>C	(Likely) benign	1 lab	6bfde56812
9:135946999 CEL ACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGC>A	9	135946999	135947081	ACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGC	A	CEL	c.2127_2192del	NM_001807.6	NP_001798.3:p.(Thr711_Glu732del)	NC_000009.11:g.135947016_135947081del	(Likely) benign	1 lab	6c098141a2
1:160109701 ATP1A2 C>T	1	160109701	160109701	C	T	ATP1A2	c.2961C>T	NM_000702.4	NP_000693.1:p.(Cys987=)	NC_000001.10:g.160109701C>T	(Likely) benign	1 lab	6c386fafe4
4:1806083 FGFR3 G>A	4	1806083	1806083	G	A	FGFR3	c.1102G>A	NM_000142.5	NP_000133.1:p.(Glu368Lys)	NC_000004.11:g.1806083G>A	(Likely) benign	1 lab	6c831bf4a0
16:1634225 IFT140 G>A	16	1634225	1634225	G	A	IFT140	c.1352C>T	NM_014714.4	NP_055529.2:p.(Ala451Val)	NC_000016.9:g.1634225G>A	(Likely) benign	1 lab	6c861b3f64
15:89402176 ACAN C>G	15	89402176	89402176	C	G	ACAN	c.6360C>G	NM_001369268.1	NP_001356197.1:p.(Ser2120Arg)	NC_000015.9:g.89402176C>G	(Likely) benign	1 lab	6c9feba692
9:135946722 CEL G>C	9	135946722	135946722	G	C	CEL	c.1833G>C	NM_001807.6	NP_001798.3:p.(Gly611=)	NC_000009.11:g.135946722G>C	(Likely) benign	1 lab	6cbf33c1aa
16:2149985 PKD1 C>T	16	2149985	2149985	C	T	PKD1	c.9800G>A	NM_001009944.3	NP_001009944.3:p.(Trp3267Ter)	NC_000016.9:g.2149985C>T	(Likely) pathogenic	1 lab	6d0533fed8
X:153218365 HCFC1 C>A	X	153218365	153218365	C	A	HCFC1	c.4542G>T	NM_005334.3	NP_005325.2:p.(Leu1514=)	NC_000023.10:g.153218365C>A	(Likely) benign	1 lab	6d20c3c7dc
20:5965431 MCM8 G>A	20	5965431	5965431	G	A	MCM8	c.1738G>A	NM_032485.6	NP_115874.3:p.(Gly580Arg)	NC_000020.10:g.5965431G>A	VUS	1 lab	6d42c15e8a
15:89399909 ACAN G>A	15	89399909	89399909	G	A	ACAN	c.4093G>A	NM_001369268.1	NP_001356197.1:p.(Ala1365Thr)	NC_000015.9:g.89399909G>A	VUS	1 lab	6d4fd0640a
15:43024540 CDAN1 T>C	15	43024540	43024540	T	C	CDAN1	c.1524A>G	NM_138477.4	NP_612486.2:p.(Gln508=)	NC_000015.9:g.43024540T>C	(Likely) benign	1 lab	6d5999965b
8:1828325 ARHGEF10 C>G	8	1828325	1828325	C	G	ARHGEF10	c.955C>G	NM_014629.4	NP_055444.2:p.(Leu319Val)	NC_000008.10:g.1828325C>G	VUS	1 lab	6d731918dc
15:101606029 LRRK1 C>A	15	101606029	101606029	C	A	LRRK1	c.5387C>A	NM_024652.6	NP_078928.3:p.(Pro1796His)	NC_000015.9:g.101606029C>A	(Likely) benign	1 lab	6d78a2e25d
18:19757102 GATA6 C>T	18	19757102	19757102	C	T	GATA6	c.1302+20C>T	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19757102C>T	(Likely) benign	1 lab	6dfc443ff4
1:94508386 ABCA4 C>T	1	94508386	94508386	C	T	ABCA4	c.3259G>A	NM_000350.2	NP_000341.2:p.(Glu1087Lys)	NC_000001.10:g.94508386C>T	(Likely) pathogenic	1 lab	6e1e28ba5d
2:227953532 COL4A4 C>G	2	227953532	227953532	C	G	COL4A4	c.1460G>C	NM_000092.5	NP_000083.3:p.(Gly487Ala)	NC_000002.11:g.227953532C>G	VUS	1 lab	6e2e315fb7
5:112173655 APC G>GC	5	112173655	112173656	G	GC	APC	c.2365dup	NM_000038.6	NP_000029.2:p.(Gln789ProfsTer10)	NC_000005.9:g.112173656dup	(Likely) pathogenic	1 lab	6e651fa0f2
X:108887404 ACSL4 G>A	X	108887404	108887404	G	A	ACSL4	c.1867C>T	NM_004458.3	NP_004449.1:p.(Arg623Ter)	NC_000023.10:g.108887404G>A	VUS	1 lab	6f00b7b948
2:69093115 BMP10 T>C	2	69093115	69093115	T	C	BMP10	c.923A>G	NM_014482.3	NP_055297.1:p.(Tyr308Cys)	NC_000002.11:g.69093115T>C	VUS	1 lab	6f44664c73
19:15281655 NOTCH3 G>A	19	15281655	15281655	G	A	NOTCH3	c.4737-19C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15281655G>A	(Likely) benign	1 lab	6ff42fdeeb
16:89350856 ANKRD11 C>G	16	89350856	89350856	C	G	ANKRD11	c.2094G>C	NM_013275.6	NP_037407.4:p.(Glu698Asp)	NC_000016.9:g.89350856C>G	(Likely) benign	1 lab	70137c8fbe
12:56089344 ITGA7 A>G	12	56089344	56089344	A	G	ITGA7	c.1965T>C	NM_002206.3	NP_002197.2:p.(Cys655=)	NC_000012.11:g.56089344A>G	(Likely) benign	1 lab	7028c9d3ab
7:75677523 MDH2 C>T	7	75677523	75677523	C	T	MDH2	c.45C>T	NM_005918.4	NP_005909.2:p.(Arg15=)	NC_000007.13:g.75677523C>T	(Likely) benign	1 lab	70292ee62f
7:6031691 PMS2 G>A	7	6031691	6031691	G	A	PMS2	c.904-3C>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6031691G>A	VUS	1 lab	703243adfb
17:29546138 NF1 T>C	17	29546138	29546138	T	C	NF1	c.1641+2T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29546138T>C	(Likely) pathogenic	1 lab	7034f4c0f6
9:135946854 CEL G>C	9	135946854	135946854	G	C	CEL	c.1965G>C	NM_001807.6	NP_001798.3:p.(Gly655=)	NC_000009.11:g.135946854G>C	(Likely) benign	1 lab	7036800485
4:57357739 SRP72 T>TA	4	57357739	57357740	T	TA	SRP72	c.1640+6dup	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57357740dup	(Likely) benign	1 lab	7062854b5a
11:2186479 TH G>A	11	2186479	2186479	G	A	TH	c.1317C>T	NM_000360.4	NP_000351.2:p.(Asp439=)	NC_000011.9:g.2186479G>A	(Likely) benign	1 lab	7087e784dc
8:145005789 PLEC C>T	8	145005789	145005789	C	T	PLEC	c.2217G>A	NM_201384.3	NP_958786.1:p.(Gln739=)	NC_000008.10:g.145005789C>T	(Likely) benign	1 lab	70b38aae79
1:10713650 CASZ1 C>T	1	10713650	10713650	C	T	CASZ1	c.2464G>A	NM_001079843.3	NP_001073312.1:p.(Gly822Ser)	NC_000001.10:g.10713650C>T	(Likely) benign	1 lab	70c76ed223
18:60985773 BCL2 C>T	18	60985773	60985773	C	T	BCL2	c.127G>A	NM_000633.3	NP_000624.2:p.(Ala43Thr)	NC_000018.9:g.60985773C>T	(Likely) benign	1 lab	70e7608053
17:56772382 RAD51C C>T	17	56772382	56772382	C	T	RAD51C	c.236C>T	NM_058216.3	NP_478123.1:p.(Ser79Phe)	NC_000017.10:g.56772382C>T	(Likely) benign	1 lab	711f51fc3e
1:229568304 ACTA1 G>T	1	229568304	229568304	G	T	ACTA1	c.453C>A	NM_001100.4	NP_001091.1:p.(Thr151=)	NC_000001.10:g.229568304G>T	(Likely) benign	1 lab	7123eb1366
5:112175741 APC G>C	5	112175741	112175741	G	C	APC	c.4450G>C	NM_000038.6	NP_000029.2:p.(Asp1484His)	NC_000005.9:g.112175741G>C	(Likely) benign	1 lab	7144d32ed5
17:78023974 CCDC40 C>G	17	78023974	78023974	C	G	CCDC40	c.1051C>G	NM_017950.4	NP_060420.2:p.(Arg351Gly)	NC_000017.10:g.78023974C>G	VUS	1 lab	714e3d2a40
13:32912171 BRCA2 CTGAA>C	13	32912171	32912177	CTGAA	C	BRCA2	c.3682_3685del	NM_000059.4	NP_000050.3:p.(Asn1228PhefsTer10)	NC_000013.10:g.32912174_32912177del	(Likely) pathogenic	1 lab	71842da5ce
4:186336356 UFSP2 A>G	4	186336356	186336356	A	G	UFSP2	c.637T>C	NM_018359.5	NP_060829.2:p.(Ser213Pro)	NC_000004.11:g.186336356A>G	VUS	1 lab	71f31c20be
22:50964599 TYMP G>C	22	50964599	50964599	G	C	TYMP	c.1160-29C>G	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50964599G>C	(Likely) benign	1 lab	720f2582e3
19:50921231 POLD1 G>A	19	50921231	50921231	G	A	POLD1	c.*27G>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50921231G>A	VUS	1 lab	7230783b25
18:29126315 DSG2 A>T	18	29126315	29126315	A	T	DSG2	c.2966A>T	NM_001943.5	NP_001934.2:p.(Glu989Val)	NC_000018.9:g.29126315A>T	VUS	1 lab	724d49c127
10:89473069 PAPSS2 T>TAAAA	10	89473069	89473091	T	TAAAA	PAPSS2	c.381+21_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473088_89473091dup	(Likely) benign	1 lab	72d35182bb
5:112164594 APC T>TA	5	112164594	112164595	T	TA	APC	c.1668_1669insA	NM_000038.6	NP_000029.2:p.(Val557SerfsTer3)	NC_000005.9:g.112164594_112164595insA	(Likely) pathogenic	1 lab	72f2b9cc1e
2:220423125 OBSL1 C>T	2	220423125	220423125	C	T	OBSL1	c.3283G>A	NM_015311.3	NP_056126.1:p.(Ala1095Thr)	NC_000002.11:g.220423125C>T	(Likely) benign	1 lab	731b146a7f
1:111490837 LRIF1 C>T	1	111490837	111490837	C	T	LRIF1	c.2054G>A	NM_018372.4	NP_060842.3:p.(Ser685Asn)	NC_000001.10:g.111490837C>T	(Likely) benign	1 lab	737a68dd09
9:135947018 CEL A>G	9	135947018	135947018	A	G	CEL	c.2129A>G	NM_001807.6	NP_001798.3:p.(Glu710Gly)	NC_000009.11:g.135947018A>G	(Likely) benign	1 lab	73a6734085
9:135940518 CEL G>A	9	135940518	135940518	G	A	CEL	c.432G>A	NM_001807.6	NP_001798.3:p.(Leu144=)	NC_000009.11:g.135940518G>A	(Likely) benign	1 lab	73b42d3a71
7:6026997 PMS2 C>T	7	6026997	6026997	C	T	PMS2	c.1399G>A	NM_000535.7	NP_000526.2:p.(Val467Ile)	NC_000007.13:g.6026997C>T	(Likely) benign	1 lab	740c76fcb2
11:95528706 CEP57 A>G	11	95528706	95528706	A	G	CEP57	c.46-3690A>G	NM_001243777.2	NP_001230706.1:p.?	NC_000011.9:g.95528706A>G	VUS	1 lab	743d6b9845
16:30749933 SRCAP C>T	16	30749933	30749933	C	T	SRCAP	c.8572C>T	NM_006662.3	NP_006653.2:p.(Arg2858Cys)	NC_000016.9:g.30749933C>T	VUS	1 lab	74745555e9
7:156802451 MNX1 GGCGGGGTGC>G	7	156802451	156802472	GGCGGGGTGC	G	MNX1	c.585_593del	NM_005515.4	NP_005506.3:p.(His196_Ala198del)	NC_000007.13:g.156802464_156802472del	VUS	1 lab	74878d5187
2:31571241 XDH G>C	2	31571241	31571241	G	C	XDH	c.3052-12C>G	NM_000379.4	NP_000370.2:p.?	NC_000002.11:g.31571241G>C	(Likely) benign	1 lab	74a4602c27
15:89401362 ACAN G>T	15	89401362	89401362	G	T	ACAN	c.5546G>T	NM_001369268.1	NP_001356197.1:p.(Gly1849Val)	NC_000015.9:g.89401362G>T	(Likely) benign	1 lab	74cbcedfe7
X:135790866 ARHGEF6 C>A	X	135790866	135790866	C	A	ARHGEF6	c.891G>T	NM_004840.3	NP_004831.1:p.(Gln297His)	NC_000023.10:g.135790866C>A	(Likely) benign	1 lab	7665b9a228
X:18943783 PHKA2 C>T	X	18943783	18943783	C	T	PHKA2	c.1569+3G>A	NM_000292.3	NP_000283.1:p.?	NC_000023.10:g.18943783C>T	(Likely) benign	1 lab	753e509353
10:89473069 PAPSS2 T>TAA	10	89473069	89473091	T	TAA	PAPSS2	c.381+23_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473090_89473091dup	(Likely) benign	1 lab	7550c7005a
17:78350767 RNF213 A>G	17	78350767	78350767	A	G	RNF213	c.13510+4A>G	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78350767A>G	(Likely) benign	1 lab	7598cea621
7:31016882 GHRHR C>G	7	31016882	31016882	C	G	GHRHR	c.1105-14C>G	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016882C>G	(Likely) benign	1 lab	75a1946800
11:2154881 IGF2 G>A	11	2154881	2154881	G	A	IGF2	c.172C>T	NM_000612.6	NP_000603.1:p.(Arg58Cys)	NC_000011.9:g.2154881G>A	(Likely) pathogenic	1 lab	75db6b8bae
22:41523759 EP300 G>C	22	41523759	41523759	G	C	EP300	c.1168+7G>C	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41523759G>C	(Likely) benign	1 lab	75e4d9edcb
5:90002217 ADGRV1 ACT>A	5	90002217	90002221	ACT	A	ADGRV1	c.8730+9_8730+10del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002220_90002221del	(Likely) benign	1 lab	75ef4ca69e
9:34658652 IL11RA G>A	9	34658652	34658652	G	A	IL11RA	c.782G>A	NM_001142784.3	NP_001136256.1:p.(Arg261His)	NC_000009.11:g.34658652G>A	(Likely) benign	1 lab	760d2667b7
13:78492540 EDNRB C>T	13	78492540	78492540	C	T	EDNRB	c.169G>A	NM_001122659.3	NP_001116131.1:p.(Gly57Ser)	NC_000013.10:g.78492540C>T	(Likely) benign	1 lab	7658647a1c
1:161192802 APOA2 C>T	1	161192802	161192802	C	T	APOA2	c.91G>A	NM_001643.2	NP_001634.1:p.(Glu31Lys)	NC_000001.10:g.161192802C>T	VUS	1 lab	778204d3f5
3:70005695 MITF C>T	3	70005695	70005695	C	T	MITF	c.1031+14C>T	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.70005695C>T	(Likely) benign	1 lab	77b00061d1
15:89398996 ACAN C>T	15	89398996	89398996	C	T	ACAN	c.3180C>T	NM_001369268.1	NP_001356197.1:p.(Thr1060=)	NC_000015.9:g.89398996C>T	(Likely) benign	1 lab	77b7e2441b
2:48033890 MSH6 C>CTT	2	48033890	48033908	C	CTT	MSH6	c.4002-11_4002-10dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033907_48033908dup	(Likely) benign	1 lab	785c721898
12:112036798 ATXN2 TGC>T	12	112036798	112036800	TGC	T	ATXN2	c.39_40del	NM_001372574.1	NP_001359503.1:p.(Gln14AlafsTer75)	NC_000012.11:g.112036799_112036800del	(Likely) benign	1 lab	787944fdaf
19:7184651 INSR G>GGAGAGAGAGAGAGAGAGAGA	19	7184651	7184672	G	GGAGAGAGAGAGAGAGAGAGA	INSR	c.653-23_653-4dup	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7184653_7184672dup	(Likely) benign	1 lab	78e3c71890
2:215593572 BARD1 G>A	2	215593572	215593572	G	A	BARD1	c.2162C>T	NM_000465.4	NP_000456.2:p.(Ala721Val)	NC_000002.11:g.215593572G>A	VUS	1 lab	78ef6e0bd3
19:18895865 COMP C>T	19	18895865	18895865	C	T	COMP	c.1755G>A	NM_000095.3	NP_000086.2:p.(Thr585=)	NC_000019.9:g.18895865C>T	(Likely) benign	1 lab	790a80f517
6:57061345 RAB23 A>C	6	57061345	57061345	A	C	RAB23	c.301T>G	NM_016277.5	NP_057361.3:p.(Ser101Ala)	NC_000006.11:g.57061345A>C	(Likely) benign	1 lab	792df0a613
16:89869704 FANCA T>C	16	89869704	89869704	T	C	FANCA	c.755A>G	NM_000135.4	NP_000126.2:p.(Asp252Gly)	NC_000016.9:g.89869704T>C	(Likely) benign	1 lab	79459f474a
15:99500633 IGF1R G>A	15	99500633	99500633	G	A	IGF1R	c.4066G>A	NM_000875.5	NP_000866.1:p.(Glu1356Lys)	NC_000015.9:g.99500633G>A	VUS	1 lab	795f1b095d
16:2152455 PKD1 CA>C	16	2152455	2152456	CA	C	PKD1	c.9127del	NM_001009944.3	NP_001009944.3:p.(Cys3043AlafsTer31)	NC_000016.9:g.2152456del	(Likely) pathogenic	1 lab	7976f4b638
X:47308268 ZNF41 A>G	X	47308268	47308268	A	G	ZNF41	c.901T>C	NM_001324144.2	NP_001311073.1:p.(Cys301Arg)	NC_000023.10:g.47308268A>G	(Likely) benign	1 lab	79825c3d3c
8:144993003 PLEC G>A	8	144993003	144993003	G	A	PLEC	c.10986C>T	NM_201384.3	NP_958786.1:p.(Thr3662=)	NC_000008.10:g.144993003G>A	(Likely) benign	1 lab	7986b3eb06
7:31013593 GHRHR C>A	7	31013593	31013593	C	A	GHRHR	c.598-7C>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013593C>A	(Likely) benign	1 lab	7987b1fd9f
9:135946887 CEL C>G	9	135946887	135946887	C	G	CEL	c.1998C>G	NM_001807.6	NP_001798.3:p.(Gly666=)	NC_000009.11:g.135946887C>G	(Likely) benign	1 lab	79c9c638f4
8:144992388 PLEC G>A	8	144992388	144992388	G	A	PLEC	c.11601C>T	NM_201384.3	NP_958786.1:p.(Asp3867=)	NC_000008.10:g.144992388G>A	(Likely) benign	1 lab	7a215a1b15
8:144995345 PLEC G>A	8	144995345	144995345	G	A	PLEC	c.8644C>T	NM_201384.3	NP_958786.1:p.(Leu2882=)	NC_000008.10:g.144995345G>A	(Likely) benign	1 lab	7a33aa740e
12:56082025 ITGA7 G>C	12	56082025	56082025	G	C	ITGA7	c.3018C>G	NM_002206.3	NP_002197.2:p.(Ser1006=)	NC_000012.11:g.56082025G>C	(Likely) benign	1 lab	7ad6c2ce29
1:165738078 TMCO1 C>T	1	165738078	165738078	C	T	TMCO1	c.-90G>A	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165738078C>T	(Likely) benign	1 lab	7bb081f856
16:29994495 TAOK2 G>A	16	29994495	29994495	G	A	TAOK2	c.1102G>A	NM_016151.4	NP_057235.2:p.(Val368Ile)	NC_000016.9:g.29994495G>A	VUS	1 lab	7c0e143ff3
15:89382009 ACAN C>T	15	89382009	89382009	C	T	ACAN	c.186C>T	NM_001369268.1	NP_001356197.1:p.(Thr62=)	NC_000015.9:g.89382009C>T	(Likely) benign	1 lab	7c196bfc5e
6:117198488 RFX6 C>A	6	117198488	117198488	C	A	RFX6	c.50C>A	NM_173560.4	NP_775831.2:p.(Ala17Glu)	NC_000006.11:g.117198488C>A	(Likely) benign	1 lab	7c5ca84b45
13:35733649 NBEA G>C	13	35733649	35733649	G	C	NBEA	c.3341G>C	NM_015678.5	NP_056493.3:p.(Ser1114Thr)	NC_000013.10:g.35733649G>C	(Likely) benign	1 lab	7c8a022bef
5:79950724 DHFR G>C	5	79950724	79950724	G	C	DHFR	c.-416C>G	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950724G>C	(Likely) benign	1 lab	7d0e01f360
13:111077260 COL4A2 G>T	13	111077260	111077260	G	T	COL4A2	c.316-40G>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077260G>T	(Likely) benign	1 lab	7d8dc82a89
12:5021840 KCNA1 C>G	12	5021840	5021840	C	G	KCNA1	c.1296C>G	NM_000217.3	NP_000208.2:p.(Ser432=)	NC_000012.11:g.5021840C>G	(Likely) benign	1 lab	7e141d4090
10:50019605 WDFY4 C>T	10	50019605	50019605	C	T	WDFY4	c.5066C>T	NM_001394531.1	NP_001381460.1:p.(Pro1689Leu)	NC_000010.10:g.50019605C>T	VUS	1 lab	7e2f52fb25
2:47707982 MSH2 C>T	2	47707982	47707982	C	T	MSH2	c.2606C>T	NM_000251.3	NP_000242.1:p.(Ala869Val)	NC_000002.11:g.47707982C>T	(Likely) benign	1 lab	7e371dd3b5
14:75515624 MLH3 G>A	14	75515624	75515624	G	A	MLH3	c.735C>T	NM_001040108.2	NP_001035197.1:p.(Tyr245=)	NC_000014.8:g.75515624G>A	(Likely) benign	1 lab	7e5adb805d
17:41246887 BRCA1 T>C	17	41246887	41246887	T	C	BRCA1	c.671-10A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41246887T>C	(Likely) benign	1 lab	7eaefa2b60
14:92441066 TRIP11 C>T	14	92441066	92441066	C	T	TRIP11	c.5479G>A	NM_004239.4	NP_004230.2:p.(Gly1827Ser)	NC_000014.8:g.92441066C>T	(Likely) benign	1 lab	7eb9a236ed
11:17498164 ABCC8 G>C	11	17498164	17498164	G	C	ABCC8	c.148+12C>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17498164G>C	(Likely) benign	1 lab	7eb9dde1d9
7:33313489 BBS9 C>T	7	33313489	33313489	C	T	BBS9	c.937C>T	NM_198428.3	NP_940820.1:p.(His313Tyr)	NC_000007.13:g.33313489C>T	VUS	1 lab	7ec392a741
15:89398525 ACAN T>A	15	89398525	89398525	T	A	ACAN	c.2709T>A	NM_001369268.1	NP_001356197.1:p.(Gly903=)	NC_000015.9:g.89398525T>A	(Likely) benign	1 lab	7eca33caa5
16:67876475 THAP11 C>T	16	67876475	67876475	C	T	THAP11	c.18C>T	NM_020457.3	NP_065190.2:p.(Cys6=)	NC_000016.9:g.67876475C>T	(Likely) benign	1 lab	7fafe17783
5:136973027 KLHL3 G>A	5	136973027	136973027	G	A	KLHL3	c.1277C>T	NM_017415.3	NP_059111.2:p.(Pro426Leu)	NC_000005.9:g.136973027G>A	(Likely) pathogenic	1 lab	7eebee5712
9:135947034 CEL G>C	9	135947034	135947034	G	C	CEL	c.2145G>C	NM_001807.6	NP_001798.3:p.(Pro715=)	NC_000009.11:g.135947034G>C	(Likely) benign	1 lab	7f1fa08c57
17:1639350 WDR81 C>T	17	1639350	1639350	C	T	WDR81	c.5343C>T	NM_001163809.2	NP_001157281.1:p.(Gly1781=)	NC_000017.10:g.1639350C>T	(Likely) benign	1 lab	7f33ca1d95
11:129814723 PRDM10 G>A	11	129814723	129814723	G	A	PRDM10	c.705C>T	NM_199437.2	NP_955469.1:p.(Pro235=)	NC_000011.9:g.129814723G>A	(Likely) benign	1 lab	7f64a21820
2:71871164 DYSF T>C	2	71871164	71871164	T	C	DYSF	c.4597T>C	NM_001130987.2	NP_001124459.1:p.(Tyr1533His)	NC_000002.11:g.71871164T>C	VUS	1 lab	7f7d5b9f37
17:8141779 CTC1 T>C	17	8141779	8141779	T	C	CTC1	c.366A>G	NM_025099.6	NP_079375.3:p.(Ala122=)	NC_000017.10:g.8141779T>C	(Likely) benign	1 lab	7faef7252d
12:6125802 VWF A>T	12	6125802	6125802	A	T	VWF	c.5191T>A	NM_000552.5	NP_000543.3:p.(Ser1731Thr)	NC_000012.11:g.6125802A>T	VUS	1 lab	8019f54be7
11:6648419 DCHS1 G>A	11	6648419	6648419	G	A	DCHS1	c.5851C>T	NM_003737.4	NP_003728.1:p.(Arg1951Cys)	NC_000011.9:g.6648419G>A	VUS	1 lab	806af63e79
3:142215367 ATR AGG>A	3	142215367	142215369	AGG	A	ATR	c.5739-7_5739-6del	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142215368_142215369del	(Likely) benign	1 lab	80b7b24dc0
16:1251892 CACNA1H G>A	16	1251892	1251892	G	A	CACNA1H	c.1442G>A	NM_021098.3	NP_066921.2:p.(Arg481His)	NC_000016.9:g.1251892G>A	VUS	1 lab	80e1c8c0ef
9:133759546 ABL1 G>A	9	133759546	133759546	G	A	ABL1	c.1869G>A	NM_005157.6	NP_005148.2:p.(Glu623=)	NC_000009.11:g.133759546G>A	(Likely) benign	1 lab	80e7ff8aff
19:49468605 FTL A>G	19	49468605	49468605	A	G	FTL	c.-160A>G	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468605A>G	(Likely) pathogenic	1 lab	8104bf9c77
22:21344732 LZTR1 C>T	22	21344732	21344732	C	T	LZTR1	c.709C>T	NM_006767.4	NP_006758.2:p.(Arg237Trp)	NC_000022.10:g.21344732C>T	VUS	1 lab	81388e646d
7:6048662 PMS2 C>T	7	6048662	6048662	C	T	PMS2	c.-12G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6048662C>T	VUS	1 lab	8152e08803
11:17435042 ABCC8 C>A	11	17435042	17435042	C	A	ABCC8	c.2391-17G>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17435042C>A	(Likely) benign	1 lab	8168e02ab0
22:28193597 MN1 G>A	22	28193597	28193597	G	A	MN1	c.2935C>T	NM_002430.3	NP_002421.3:p.(Gln979Ter)	NC_000022.10:g.28193597G>A	VUS	1 lab	818504f312
9:119124875 PAPPA T>C	9	119124875	119124875	T	C	PAPPA	c.4352T>C	NM_002581.5	NP_002572.2:p.(Leu1451Pro)	NC_000009.11:g.119124875T>C	(Likely) benign	1 lab	83bbc28b0b
13:32944619 BRCA2 C>CT	13	32944619	32944621	C	CT	BRCA2	c.8414dup	NM_000059.4	NP_000050.3:p.(Leu2805PhefsTer7)	NC_000013.10:g.32944621dup	(Likely) pathogenic	1 lab	82502af362
9:135946587 CEL C>T	9	135946587	135946587	C	T	CEL	c.1698C>T	NM_001807.6	NP_001798.3:p.(Ser566=)	NC_000009.11:g.135946587C>T	(Likely) benign	1 lab	8266f533a7
9:139568339 AGPAT2 G>A	9	139568339	139568339	G	A	AGPAT2	c.702C>T	NM_006412.4	NP_006403.2:p.(Ser234=)	NC_000009.11:g.139568339G>A	(Likely) benign	1 lab	82b0b517d0
3:12434110 PPARG C>T	3	12434110	12434110	C	T	PPARG	c.391-3C>T	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12434110C>T	(Likely) benign	1 lab	82e50fb199
4:1954691 NSD2 A>G	4	1954691	1954691	A	G	NSD2	c.2138-360A>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1954691A>G	VUS	1 lab	a546383132
11:72004406 CLPB GGCTGCTAGATGGTGTT>G	11	72004406	72004424	GGCTGCTAGATGGTGTT	G	CLPB	c.2023_*4del	NM_001258392.3	NP_001245321.1:p.(Asn675HisfsTer22)	NC_000011.9:g.72004409_72004424del	VUS	1 lab	82e85760a6
9:135946756 CEL G>C	9	135946756	135946756	G	C	CEL	c.1867G>C	NM_001807.6	NP_001798.3:p.(Ala623Pro)	NC_000009.11:g.135946756G>C	(Likely) benign	1 lab	8311f261fb
4:1963097 NSD2 C>T	4	1963097	1963097	C	T	NSD2	c.3372+219C>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1963097C>T	(Likely) benign	1 lab	83486a448e
12:7080187 EMG1 C>G	12	7080187	7080187	C	G	EMG1	c.101C>G	NM_006331.8	NP_006322.4:p.(Ala34Gly)	NC_000012.11:g.7080187C>G	(Likely) benign	1 lab	839751d8e0
16:1637997 IFT140 C>T	16	1637997	1637997	C	T	IFT140	c.839G>A	NM_014714.4	NP_055529.2:p.(Arg280Gln)	NC_000016.9:g.1637997C>T	(Likely) benign	1 lab	83b11b3e0a
4:1808981 FGFR3 C>T	4	1808981	1808981	C	T	FGFR3	c.2413C>T	NM_000142.5	NP_000133.1:p.(Arg805Trp)	NC_000004.11:g.1808981C>T	VUS	1 lab	83b8b5aa00
5:112170648 APC G>T	5	112170648	112170648	G	T	APC	c.1744G>T	NM_000038.6	NP_000029.2:p.(Glu582Ter)	NC_000005.9:g.112170648G>T	(Likely) pathogenic	1 lab	840c2978dc
15:89398658 ACAN G>C	15	89398658	89398658	G	C	ACAN	c.2842G>C	NM_001369268.1	NP_001356197.1:p.(Ala948Pro)	NC_000015.9:g.89398658G>C	VUS	1 lab	841bf636af
10:29783908 SVIL A>G	10	29783908	29783908	A	G	SVIL	c.3776T>C	NM_021738.3	NP_068506.2:p.(Met1259Thr)	NC_000010.10:g.29783908A>G	(Likely) benign	1 lab	8427ed9fc1
5:112175909 APC G>T	5	112175909	112175909	G	T	APC	c.4618G>T	NM_000038.6	NP_000029.2:p.(Glu1540Ter)	NC_000005.9:g.112175909G>T	(Likely) pathogenic	1 lab	842807c59e
17:36093702 HNF1B G>A	17	36093702	36093702	G	A	HNF1B	c.657C>T	NM_000458.4	NP_000449.1:p.(Ser219=)	NC_000017.10:g.36093702G>A	(Likely) benign	1 lab	843fd73b84
10:17026102 CUBN AC>A	10	17026102	17026104	AC	A	CUBN	c.4525+1del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17026104del	(Likely) pathogenic	1 lab	847516c4f8
10:43620387 RET C>T	10	43620387	43620387	C	T	RET	c.2996C>T	NM_020975.6	NP_066124.1:p.(Ala999Val)	NC_000010.10:g.43620387C>T	VUS	1 lab	84b08c7b7c
2:164467966 FIGN C>T	2	164467966	164467966	C	T	FIGN	c.376G>A	NM_018086.4	NP_060556.2:p.(Asp126Asn)	NC_000002.11:g.164467966C>T	VUS	1 lab	84b09b7990
19:55494126 NLRP2 A>G	19	55494126	55494126	A	G	NLRP2	c.1060A>G	NM_017852.5	NP_060322.1:p.(Ile354Val)	NC_000019.9:g.55494126A>G	(Likely) benign	1 lab	84f79b7ae1
19:1457042 APC2 G>C	19	1457042	1457042	G	C	APC2	c.1007G>C	NM_005883.3	NP_005874.1:p.(Gly336Ala)	NC_000019.9:g.1457042G>C	VUS	1 lab	85451399c4
2:27306881 EMILIN1 T>A	2	27306881	27306881	T	A	EMILIN1	c.2440+2T>A	NM_007046.4	NP_008977.1:p.?	NC_000002.11:g.27306881T>A	VUS	1 lab	858e61188c
9:133760592 ABL1 C>T	9	133760592	133760592	C	T	ABL1	c.2915C>T	NM_005157.6	NP_005148.2:p.(Ser972Leu)	NC_000009.11:g.133760592C>T	(Likely) benign	1 lab	8632c5204c
11:119148880 CBL A>G	11	119148880	119148880	A	G	CBL				NC_000011.9:g.119148880A>G	(Likely) pathogenic	1 lab	8676ee245a
17:40370237 STAT5B G>T	17	40370237	40370237	G	T	STAT5B	c.1101C>A	NM_012448.4	NP_036580.2:p.(Pro367=)	NC_000017.10:g.40370237G>T	(Likely) benign	1 lab	8694d535fa
19:7142921 INSR C>T	19	7142921	7142921	C	T	INSR	c.2448G>A	NM_000208.4	NP_000199.2:p.(Thr816=)	NC_000019.9:g.7142921C>T	(Likely) benign	1 lab	86dd345eca
15:89392802 ACAN C>T	15	89392802	89392802	C	T	ACAN	c.1866C>T	NM_001369268.1	NP_001356197.1:p.(Cys622=)	NC_000015.9:g.89392802C>T	(Likely) benign	1 lab	8787f1b79a
9:80412493 GNAQ C>T	9	80412493	80412493	C	T	GNAQ	c.548G>A	NM_002072.5	NP_002063.2:p.(Arg183Gln)	NC_000009.11:g.80412493C>T	(Likely) pathogenic	1 lab	886d8dc78e
15:77320257 PSTPIP1 T>C	15	77320257	77320257	T	C	PSTPIP1	c.417+2T>C	NM_003978.5	NP_003969.2:p.?	NC_000015.9:g.77320257T>C	VUS	1 lab	889d618c73
13:111118450 COL4A2 C>T	13	111118450	111118450	C	T	COL4A2	c.2038+41C>T	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111118450C>T	(Likely) benign	1 lab	88b31f32ec
8:146029075 ZNF517 G>GGAGTT	8	146029075	146029081	G	GGAGTT	ZNF517	c.85_89dup	NM_213605.3	NP_998770.2:p.(Cys30Ter)	NC_000008.10:g.146029077_146029081dup	VUS	1 lab	88cff03d00
13:20763293 GJB2 C>T	13	20763293	20763293	C	T	GJB2	c.428G>A	NM_004004.5	NP_003995.2:p.(Arg143Gln)	NC_000013.10:g.20763293C>T	(Likely) pathogenic	1 lab	8950725927
19:8649788 ADAMTS10 C>T	19	8649788	8649788	C	T	ADAMTS10	c.3193G>A	NM_030957.4	NP_112219.3:p.(Gly1065Ser)	NC_000019.9:g.8649788C>T	(Likely) benign	1 lab	897d50faa6
1:92944188 GFI1 G>A	1	92944188	92944188	G	A	GFI1	c.1047C>T	NM_005263.5	NP_005254.2:p.(Phe349=)	NC_000001.10:g.92944188G>A	(Likely) benign	1 lab	8984aa934c
3:81810645 GBE1 C>T	3	81810645	81810645	C	T	GBE1	c.24G>A	NM_000158.4	NP_000149.4:p.(Ala8=)	NC_000003.11:g.81810645C>T	(Likely) benign	1 lab	8a54939a0d
1:110603639 ALX3 G>C	1	110603639	110603639	G	C	ALX3	c.748C>G	NM_006492.3	NP_006483.2:p.(Pro250Ala)	NC_000001.10:g.110603639G>C	(Likely) benign	1 lab	8a7e44a5f9
3:122000982 CASR G>A	3	122000982	122000982	G	A	CASR	c.1631G>A	NM_000388.4	NP_000379.3:p.(Arg544Gln)	NC_000003.11:g.122000982G>A	(Likely) pathogenic	1 lab	8babe67250
17:37825998 PNMT C>T	17	37825998	37825998	C	T	PNMT	c.319C>T	NM_002686.4	NP_002677.1:p.(Arg107Cys)	NC_000017.10:g.37825998C>T	(Likely) benign	1 lab	8bc48c394b
11:532701 HRAS G>A	11	532701	532701	G	A	HRAS	c.505C>T	NM_005343.4	NP_005334.1:p.(Arg169Trp)	NC_000011.9:g.532701G>A	VUS	1 lab	8bd7407c3c
9:94486712 ROR2 G>A	9	94486712	94486712	G	A	ROR2	c.2064C>T	NM_004560.4	NP_004551.2:p.(Tyr688=)	NC_000009.11:g.94486712G>A	(Likely) benign	1 lab	8c09376d53
5:42718707 GHR A>G	5	42718707	42718707	A	G	GHR	c.1098A>G	NM_000163.5	NP_000154.1:p.(Leu366=)	NC_000005.9:g.42718707A>G	(Likely) benign	1 lab	8c1040b21b
17:63554337 AXIN2 G>A	17	63554337	63554337	G	A	AXIN2	c.402C>T	NM_004655.4	NP_004646.3:p.(Ile134=)	NC_000017.10:g.63554337G>A	VUS	1 lab	8c17dc0e06
7:87035680 ABCB4 C>T	7	87035680	87035680	C	T	ABCB4	c.3410G>A	NM_000443.4	NP_000434.1:p.(Arg1137Gln)	NC_000007.13:g.87035680C>T	VUS	1 lab	8c7f7fd31c
3:180334077 CCDC39 T>TA	3	180334077	180334078	T	TA	CCDC39	c.2660dup	NM_181426.2	NP_852091.1:p.(Ser888IlefsTer6)	NC_000003.11:g.180334078dup	(Likely) benign	1 lab	8cc7bfdec8
16:2150210 PKD1 C>T	16	2150210	2150210	C	T	PKD1	c.9669G>A	NM_001009944.3	NP_001009944.3:p.(Thr3223=)	NC_000016.9:g.2150210C>T	(Likely) benign	1 lab	8cd32e09ba
17:79954420 ASPSCR1 G>A	17	79954420	79954420	G	A	ASPSCR1	c.631G>A	NM_024083.4	NP_076988.1:p.(Asp211Asn)	NC_000017.10:g.79954420G>A	VUS	1 lab	8cda47b2dc
18:2697994 SMCHD1 T>C	18	2697994	2697994	T	C	SMCHD1	c.1297T>C	NM_015295.3	NP_056110.2:p.(Leu433=)	NC_000018.9:g.2697994T>C	(Likely) benign	1 lab	8d517cf499
19:11325229 DOCK6 C>T	19	11325229	11325229	C	T	DOCK6	c.4203G>A	NM_020812.4	NP_065863.2:p.(Gln1401=)	NC_000019.9:g.11325229C>T	(Likely) benign	1 lab	8dc0e5f171
17:63554660 AXIN2 G>A	17	63554660	63554660	G	A	AXIN2	c.79C>T	NM_004655.4	NP_004646.3:p.(Pro27Ser)	NC_000017.10:g.63554660G>A	VUS	1 lab	8e0f1f5b13
19:51206895 SHANK1 G>A	19	51206895	51206895	G	A	SHANK1	c.1415C>T	NM_016148.5	NP_057232.2:p.(Ser472Leu)	NC_000019.9:g.51206895G>A	(Likely) benign	1 lab	8e45470693
9:140128644 SLC34A3 G>A	9	140128644	140128644	G	A	SLC34A3	c.1009G>A	NM_001177316.2	NP_001170787.2:p.(Gly337Ser)	NC_000009.11:g.140128644G>A	(Likely) benign	1 lab	8f36975cc2
9:135946954 CEL G>GC	9	135946954	135946962	G	GC	CEL	c.2073dup	NM_001807.6	NP_001798.3:p.(Val692ArgfsTer6)	NC_000009.11:g.135946962dup	VUS	1 lab	8f59618d58
5:149460437 CSF1R C>T	5	149460437	149460437	C	T	CSF1R	c.200G>A	NM_001288705.3	NP_001275634.1:p.(Ser67Asn)	NC_000005.9:g.149460437C>T	(Likely) benign	1 lab	8f798dbb91
17:6331817 AIPL1 C>T	17	6331817	6331817	C	T	AIPL1	c.286G>A	NM_014336.5	NP_055151.3:p.(Val96Ile)	NC_000017.10:g.6331817C>T	(Likely) benign	1 lab	8f7d1f585f
8:11565845 GATA4 C>G	8	11565845	11565845	C	G	GATA4	c.24C>G	NM_001308093.3	NP_001295022.1:p.(Ala8=)	NC_000008.10:g.11565845C>G	(Likely) benign	1 lab	8fb95535e4
16:2140972 PKD1 G>A	16	2140972	2140972	G	A	PKD1	c.11916C>T	NM_001009944.3	NP_001009944.3:p.(Arg3972=)	NC_000016.9:g.2140972G>A	(Likely) benign	1 lab	8fbfeecca1
1:76215122 ACADM C>T	1	76215122	76215122	C	T	ACADM	c.727C>T	NM_000016.6	NP_000007.1:p.(Arg243Ter)	NC_000001.10:g.76215122C>T	(Likely) pathogenic	1 lab	90118c81cb
2:182543372 NEUROD1 C>T	2	182543372	182543372	C	T	NEUROD1	c.216G>A	NM_002500.5	NP_002491.3:p.(Glu72=)	NC_000002.11:g.182543372C>T	(Likely) benign	1 lab	9019715a6b
14:92537379 ATXN3 T>TGCTGCTGCTGCTGCTGCTGC	14	92537379	92537380	T	TGCTGCTGCTGCTGCTGCTGC	ATXN3	c.890_891insGCAGCAGCAGCAGCAGCAGC	NM_004993.6	NP_004984.2:p.(Gln304HisfsTer34)	NC_000014.8:g.92537379_92537380insGCTGCTGCTGCTGCTGCTGC	VUS	1 lab	901d0feca4
2:220420874 OBSL1 C>T	2	220420874	220420874	C	T	OBSL1	c.4477G>A	NM_015311.3	NP_056126.1:p.(Asp1493Asn)	NC_000002.11:g.220420874C>T	(Likely) benign	1 lab	9030b205c1
22:50965102 TYMP C>T	22	50965102	50965102	C	T	TYMP	c.831G>A	NM_001953.5	NP_001944.1:p.(Leu277=)	NC_000022.10:g.50965102C>T	(Likely) benign	1 lab	90328ce048
11:17464411 ABCC8 G>A	11	17464411	17464411	G	A	ABCC8	c.1486C>T	NM_000352.6	NP_000343.2:p.(Leu496=)	NC_000011.9:g.17464411G>A	VUS	1 lab	90373a6b32
17:12608512 MYOCD T>A	17	12608512	12608512	T	A	MYOCD	c.121+2T>A	NM_001146312.3	NP_001139784.1:p.?	NC_000017.10:g.12608512T>A	VUS	1 lab	90703fdac3
12:56092668 ITGA7 C>T	12	56092668	56092668	C	T	ITGA7	c.824G>A	NM_002206.3	NP_002197.2:p.(Arg275His)	NC_000012.11:g.56092668C>T	(Likely) benign	1 lab	907ed02ca5
7:103251214 RELN G>C	7	103251214	103251214	G	C	RELN	c.2936C>G	NM_005045.4	NP_005036.2:p.(Ser979Ter)	NC_000007.13:g.103251214G>C	VUS	1 lab	90bfdf18c9
7:95864108 SLC25A13 T>C	7	95864108	95864108	T	C	SLC25A13	c.328+6A>G	NM_001160210.2	NP_001153682.1:p.?	NC_000007.13:g.95864108T>C	(Likely) benign	1 lab	90d5866b4f
1:12422803 VPS13D G>A	1	12422803	12422803	G	A	VPS13D	c.10169G>A	NM_015378.4	NP_056193.2:p.(Arg3390Gln)	NC_000001.10:g.12422803G>A	VUS	1 lab	92eca65f92
16:2120485 TSC2 ACGCCACGC>A	16	2120485	2120493	ACGCCACGC	A	TSC2	c.1746_1753del	NM_000548.5	NP_000539.2:p.(His582GlnfsTer4)	NC_000016.9:g.2120486_2120493del	(Likely) pathogenic	1 lab	90d5d556a4
15:89402539 ACAN C>T	15	89402539	89402539	C	T	ACAN	c.6723C>T	NM_001369268.1	NP_001356197.1:p.(Leu2241=)	NC_000015.9:g.89402539C>T	(Likely) benign	1 lab	90da9368f9
7:21583026 DNAH11 CA>C	7	21583026	21583028	CA	C	DNAH11	c.165del	NM_001277115.2	NP_001264044.1:p.(Asp56ThrfsTer13)	NC_000007.13:g.21583028del	(Likely) pathogenic	1 lab	9101c5039b
2:20205541 MATN3 C>T	2	20205541	20205541	C	T	MATN3	c.754G>A	NM_002381.5	NP_002372.1:p.(Glu252Lys)	NC_000002.11:g.20205541C>T	(Likely) benign	1 lab	9114dbd7d8
20:43255139 ADA A>G	20	43255139	43255139	A	G	ADA				NC_000020.10:g.43255139A>G	(Likely) pathogenic	1 lab	911ec699b4
13:25486838 CPAP G>A	13	25486838	25486838	G	A	CPAP	c.326C>T	NM_018451.5	NP_060921.3:p.(Ala109Val)	NC_000013.10:g.25486838G>A	(Likely) benign	1 lab	91547e6781
4:88979239 PKD2 T>G	4	88979239	88979239	T	G	PKD2	c.2003T>G	NM_000297.4	NP_000288.1:p.(Met668Arg)	NC_000004.11:g.88979239T>G	VUS	1 lab	915767d549
2:85888620 SFTPB C>T	2	85888620	85888620	C	T	SFTPB	c.1122G>A	NM_198843.3	NP_942140.3:p.(Gln374=)	NC_000002.11:g.85888620C>T	VUS	1 lab	915c37dfa3
15:99434855 IGF1R C>T	15	99434855	99434855	C	T	IGF1R	c.942C>T	NM_000875.5	NP_000866.1:p.(Asn314=)	NC_000015.9:g.99434855C>T	(Likely) benign	1 lab	9191d69937
17:10537355 MYH3 G>A	17	10537355	10537355	G	A	MYH3	c.4501C>T	NM_002470.4	NP_002461.2:p.(Arg1501Trp)	NC_000017.10:g.10537355G>A	VUS	1 lab	9198b07b89
7:92735154 SAMD9 G>A	7	92735154	92735154	G	A	SAMD9	c.257C>T	NM_017654.4	NP_060124.2:p.(Ser86Phe)	NC_000007.13:g.92735154G>A	(Likely) benign	1 lab	91bc354c98
1:39827345 MACF1 T>C	1	39827345	39827345	T	C	MACF1	c.12767T>C	NM_001394062.1	NP_001380991.1:p.(Ile4256Thr)	NC_000001.10:g.39827345T>C	VUS	1 lab	91c1776fa8
11:2168864 IGF2 C>T	11	2168864	2168864	C	T	IGF2	c.-75G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2168864C>T	VUS	1 lab	91dd9911f5
11:67817991 TCIRG1 A>AGGCCTG	11	67817991	67818007	A	AGGCCTG	TCIRG1	c.2285_2290dup	NM_006019.4	NP_006010.2:p.(Leu762_Gly763dup)	NC_000011.9:g.67818002_67818007dup	(Likely) benign	1 lab	923d7752d2
14:105207039 ADSS1 C>T	14	105207039	105207039	C	T	ADSS1	c.578C>T	NM_152328.5	NP_689541.1:p.(Ser193Phe)	NC_000014.8:g.105207039C>T	VUS	1 lab	92632826f8
11:108203474 C11orf65 G>T	11	108203474	108203474	G	T	C11orf65				NC_000011.9:g.108203474G>T	(Likely) benign	1 lab	92ab60b44c
5:112175852 APC GAATTAAGAAT>G	5	112175852	112175865	GAATTAAGAAT	G	APC	c.4565_4574del	NM_000038.6	NP_000029.2:p.(Leu1522CysfsTer40)	NC_000005.9:g.112175856_112175865del	(Likely) pathogenic	1 lab	92b83ebb19
1:154145366 TPM3 G>C	1	154145366	154145366	G	C	TPM3	c.566+18C>G	NM_152263.4	NP_689476.2:p.?	NC_000001.10:g.154145366G>C	(Likely) benign	1 lab	92f81f4326
14:76438016 TGFB3 C>T	14	76438016	76438016	C	T	TGFB3	c.398G>A	NM_003239.5	NP_003230.1:p.(Arg133His)	NC_000014.8:g.76438016C>T	VUS	1 lab	93423ab454
13:111132782 COL4A2 G>A	13	111132782	111132782	G	A	COL4A2	c.2758+45G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111132782G>A	(Likely) benign	1 lab	934c526eb1
12:133263851 POLE G>A	12	133263851	133263851	G	A	POLE	c.51C>T	NM_006231.4	NP_006222.2:p.(Gly17=)	NC_000012.11:g.133263851G>A	VUS	1 lab	9362adb45f
2:219526571 BCS1L C>T	2	219526571	219526571	C	T	BCS1L	c.550C>T	NM_001079866.2	NP_001073335.1:p.(Arg184Cys)	NC_000002.11:g.219526571C>T	(Likely) pathogenic	1 lab	9395dabe22
4:1978916 NSD2 C>T	4	1978916	1978916	C	T	NSD2	c.3826+510C>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1978916C>T	(Likely) benign	1 lab	93b805893f
15:34064302 RYR3 A>G	15	34064302	34064302	A	G	RYR3	c.8998A>G	NM_001036.6	NP_001027.3:p.(Ile3000Val)	NC_000015.9:g.34064302A>G	(Likely) benign	1 lab	942e6c87a3
15:89390520 ACAN C>G	15	89390520	89390520	C	G	ACAN	c.1476C>G	NM_001369268.1	NP_001356197.1:p.(Thr492=)	NC_000015.9:g.89390520C>G	(Likely) benign	1 lab	9430e43633
12:133237699 POLE C>T	12	133237699	133237699	C	T	POLE	c.2916G>A	NM_006231.4	NP_006222.2:p.(Glu972=)	NC_000012.11:g.133237699C>T	VUS	1 lab	94346ed468
2:152394444 NEB G>C	2	152394444	152394444	G	C	NEB	c.21044C>G	NM_001164508.2	NP_001157980.2:p.(Ser7015Cys)	NC_000002.11:g.152394444G>C	(Likely) benign	1 lab	94c39251e0
7:107330645 SLC26A4 G>A	7	107330645	107330645	G	A	SLC26A4	c.1226G>A	NM_000441.1	NP_000432.1:p.(Arg409His)	NC_000007.13:g.107330645G>A	(Likely) pathogenic	1 lab	94f3d81544
13:110855963 COL4A1 G>A	13	110855963	110855963	G	A	COL4A1	c.958-9C>T	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110855963G>A	(Likely) benign	1 lab	9504ff4258
12:33030924 PKP2 CT>C	12	33030924	33030925	CT	C	PKP2	c.889del	NM_001005242.3	NP_001005242.2:p.(Ser297AlafsTer5)	NC_000012.11:g.33030925del	(Likely) pathogenic	1 lab	953a3bda37
17:61996130 GH1 T>G	17	61996130	61996130	T	G	GH1	c.7A>C	NM_000515.5	NP_000506.2:p.(Thr3Pro)	NC_000017.10:g.61996130T>G	(Likely) benign	1 lab	9551557465
14:23866189 MYH6 G>C	14	23866189	23866189	G	C	MYH6	c.2151C>G	NM_002471.4	NP_002462.2:p.(Tyr717Ter)	NC_000014.8:g.23866189G>C	VUS	1 lab	95569225ce
1:156084729 LMNA G>A	1	156084729	156084729	G	A	LMNA	c.20G>A	NM_170707.4	NP_733821.1:p.(Arg7Gln)	NC_000001.10:g.156084729G>A	VUS	1 lab	957cb651b2
20:35882698 GHRH G>A	20	35882698	35882698	G	A	GHRH	c.223C>T	NM_021081.6	NP_066567.1:p.(Leu75Phe)	NC_000020.10:g.35882698G>A	(Likely) benign	1 lab	966a456885
13:28626716 FLT3 C>T	13	28626716	28626716	C	T	FLT3	c.580G>A	NM_004119.3	NP_004110.2:p.(Val194Met)	NC_000013.10:g.28626716C>T	(Likely) benign	1 lab	95a01c570b
19:18900759 COMP C>T	19	18900759	18900759	C	T	COMP	c.382G>A	NM_000095.3	NP_000086.2:p.(Val128Ile)	NC_000019.9:g.18900759C>T	(Likely) benign	1 lab	964052591a
15:66996219 SMAD6 T>C	15	66996219	66996219	T	C	SMAD6	c.623T>C	NM_005585.5	NP_005576.3:p.(Val208Ala)	NC_000015.9:g.66996219T>C	VUS	1 lab	964b3bacf2
X:100604946 BTK TAAAACCAAAGA>T	X	100604946	100604961	TAAAACCAAAGA	T	BTK	c.1909-13_1909-3del	NM_000061.3	NP_000052.1:p.?	NC_000023.10:g.100604951_100604961del	VUS	1 lab	96537a12f4
2:179641568 TTN G>C	2	179641568	179641568	G	C	TTN	c.5023C>G	NM_001267550.2	NP_001254479.2:p.(Pro1675Ala)	NC_000002.11:g.179641568G>C	VUS	1 lab	96822411ef
2:74320123 TET3 C>T	2	74320123	74320123	C	T	TET3	c.3129+5C>T	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74320123C>T	(Likely) benign	1 lab	96efdb1819
8:144992076 PLEC C>T	8	144992076	144992076	C	T	PLEC	c.11913G>A	NM_201384.3	NP_958786.1:p.(Ala3971=)	NC_000008.10:g.144992076C>T	(Likely) benign	1 lab	971b1c92a5
9:131345519 SPTAN1 TC>T	9	131345519	131345520	TC	T	SPTAN1	c.1971del	NM_001130438.3	NP_001123910.1:p.(Ser658ValfsTer7)	NC_000009.11:g.131345520del	(Likely) pathogenic	1 lab	975ebc3c54
1:111495204 LRIF1 G>A	1	111495204	111495204	G	A	LRIF1	c.302C>T	NM_018372.4	NP_060842.3:p.(Ala101Val)	NC_000001.10:g.111495204G>A	(Likely) benign	1 lab	9776f694d5
17:29663937 NF1 G>A	17	29663937	29663937	G	A	NF1	c.6427+5G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29663937G>A	(Likely) pathogenic	1 lab	97c8d5cedc
X:70348556 MED12 C>T	X	70348556	70348556	C	T	MED12	c.3463C>T	NM_005120.3	NP_005111.2:p.(Leu1155Phe)	NC_000023.10:g.70348556C>T	VUS	1 lab	97dd1e9379
19:54637644 MISSING C>CTT	19	54637644	54637645	C	CTT	MISSING				NC_000019.9:g.54637644_54637645insTT	VUS	1 lab	97e6073da0
16:2165395 PKD1 G>A	16	2165395	2165395	G	A	PKD1	c.2081C>T	NM_001009944.3	NP_001009944.3:p.(Pro694Leu)	NC_000016.9:g.2165395G>A	(Likely) benign	1 lab	980199db2f
1:984971 AGRN G>A	1	984971	984971	G	A	AGRN	c.4540G>A	NM_198576.4	NP_940978.2:p.(Ala1514Thr)	NC_000001.10:g.984971G>A	(Likely) benign	1 lab	9830cfff9d
1:22167604 HSPG2 G>C	1	22167604	22167604	G	C	HSPG2	c.9503C>G	NM_005529.7	NP_005520.4:p.(Ala3168Gly)	NC_000001.10:g.22167604G>C	(Likely) benign	1 lab	983bdeb8e5
7:56088928 PSPH C>T	7	56088928	56088928	C	T	PSPH	c.-19-4G>A	NM_004577.4	NP_004568.2:p.?	NC_000007.13:g.56088928C>T	(Likely) benign	1 lab	986c8c1d16
17:40376815 STAT5B C>G	17	40376815	40376815	C	G	STAT5B	c.357G>C	NM_012448.4	NP_036580.2:p.(Leu119Phe)	NC_000017.10:g.40376815C>G	(Likely) benign	1 lab	98b3be6dff
10:127464290 MMP21 G>A	10	127464290	127464290	G	A	MMP21	c.101C>T	NM_147191.1	NP_671724.1:p.(Ser34Leu)	NC_000010.10:g.127464290G>A	(Likely) benign	1 lab	98e4ff66cb
2:238285431 COL6A3 G>A	2	238285431	238285431	G	A	COL6A3	c.3054C>T	NM_004369.4	NP_004360.2:p.(Asn1018=)	NC_000002.11:g.238285431G>A	(Likely) benign	1 lab	990ffd8aef
1:52851599 ORC1 C>T	1	52851599	52851599	C	T	ORC1	c.1406G>A	NM_004153.4	NP_004144.2:p.(Cys469Tyr)	NC_000001.10:g.52851599C>T	(Likely) benign	1 lab	997c81cbff
16:2100464 TSC2 G>A	16	2100464	2100464	G	A	TSC2	c.202G>A	NM_000548.5	NP_000539.2:p.(Ala68Thr)	NC_000016.9:g.2100464G>A	VUS	1 lab	998922c961
15:99454581 IGF1R G>A	15	99454581	99454581	G	A	IGF1R	c.1500G>A	NM_000875.5	NP_000866.1:p.(Thr500=)	NC_000015.9:g.99454581G>A	(Likely) benign	1 lab	998951d2d1
1:26139294 SELENON C>T	1	26139294	26139294	C	T	SELENON	c.1285+11C>T	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26139294C>T	(Likely) benign	1 lab	99f3c20e23
11:44151593 EXT2 A>G	11	44151593	44151593	A	G	EXT2	c.1080-2A>G	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44151593A>G	(Likely) pathogenic	1 lab	99f4c091b9
6:117241617 RFX6 C>T	6	117241617	117241617	C	T	RFX6	c.1327C>T	NM_173560.4	NP_775831.2:p.(His443Tyr)	NC_000006.11:g.117241617C>T	(Likely) benign	1 lab	9a037cf408
2:152417836 NEB A>G	2	152417836	152417836	A	G	NEB	c.18997-10T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152417836A>G	(Likely) benign	1 lab	9a050af004
4:106155199 TET2 C>T	4	106155199	106155199	C	T	TET2	c.100C>T	NM_001127208.3	NP_001120680.1:p.(Leu34Phe)	NC_000004.11:g.106155199C>T	(Likely) benign	1 lab	9a1ab1528a
6:149700276 TAB2 A>AT	6	149700276	149700277	A	AT	TAB2	c.1226dup	NM_015093.6	NP_055908.1:p.(Ser410IlefsTer37)	NC_000006.11:g.149700277dup	(Likely) pathogenic	1 lab	9a6067a21c
3:38738977 SCN10A C>A	3	38738977	38738977	C	A	SCN10A	c.5734G>T	NM_006514.4	NP_006505.4:p.(Ala1912Ser)	NC_000003.11:g.38738977C>A	(Likely) benign	1 lab	9a64a66ea5
9:135946966 CEL C>A	9	135946966	135946966	C	A	CEL	c.2077C>A	NM_001807.6	NP_001798.3:p.(Pro693Thr)	NC_000009.11:g.135946966C>A	(Likely) benign	1 lab	9a77e7f87f
20:44520259 CTSA CTG>C	20	44520259	44520261	CTG	C	CTSA	c.53_54del	NM_000308.4	NP_000299.3:p.(Leu18ProfsTer121)	NC_000020.10:g.44520260_44520261del	(Likely) benign	1 lab	9b15d45a5c
2:72359443 CYP26B1 A>C	2	72359443	72359443	A	C	CYP26B1	c.1452T>G	NM_019885.4	NP_063938.1:p.(Asp484Glu)	NC_000002.11:g.72359443A>C	VUS	1 lab	9b3399f609
12:15035961 MGP T>G	12	15035961	15035961	T	G	MGP	c.115A>C	NM_000900.5	NP_000891.2:p.(Asn39His)	NC_000012.11:g.15035961T>G	(Likely) benign	1 lab	9bf4fa7aee
6:70991119 COL9A1 C>T	6	70991119	70991119	C	T	COL9A1	c.850G>A	NM_001851.6	NP_001842.3:p.(Gly284Arg)	NC_000006.11:g.70991119C>T	VUS	1 lab	9c32f39e1e
1:173797451 DARS2 TC>T	1	173797451	173797461	TC	T	DARS2	c.228-10del	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797461del	(Likely) benign	1 lab	9c4fd15871
9:135946954 CEL G>C	9	135946954	135946954	G	C	CEL	c.2065G>C	NM_001807.6	NP_001798.3:p.(Ala689Pro)	NC_000009.11:g.135946954G>C	(Likely) benign	1 lab	9c5ef1b3a1
6:102483294 GRIK2 G>A	6	102483294	102483294	G	A	GRIK2	c.2164G>A	NM_021956.5	NP_068775.1:p.(Glu722Lys)	NC_000006.11:g.102483294G>A	VUS	1 lab	9c84964a21
4:103455010 NFKB1 C>G	4	103455010	103455010	C	G	NFKB1	c.127C>G	NM_001382626.1	NP_001369555.1:p.(Pro43Ala)	NC_000004.11:g.103455010C>G	VUS	1 lab	9c8f4f060a
16:1576743 IFT140 G>A	16	1576743	1576743	G	A	IFT140	c.2454C>T	NM_014714.4	NP_055529.2:p.(Asp818=)	NC_000016.9:g.1576743G>A	(Likely) benign	1 lab	9cba2cec2d
18:10784823 PIEZO2 G>C	18	10784823	10784823	G	C	PIEZO2	c.2451C>G	NM_022068.4	NP_071351.2:p.(Asp817Glu)	NC_000018.9:g.10784823G>C	VUS	1 lab	9d3a473cbb
15:89414741 ACAN G>A	15	89414741	89414741	G	A	ACAN	c.7189G>A	NM_001369268.1	NP_001356197.1:p.(Val2397Ile)	NC_000015.9:g.89414741G>A	(Likely) benign	1 lab	9d7b8e4b05
2:25466813 DNMT3A C>A	2	25466813	25466813	C	A	DNMT3A	c.1890G>T	NM_022552.5	NP_072046.2:p.(Lys630Asn)	NC_000002.11:g.25466813C>A	VUS	1 lab	9d9944a9c2
16:58580237 CNOT1 T>C	16	58580237	58580237	T	C	CNOT1	c.3994A>G	NM_016284.5	NP_057368.3:p.(Ile1332Val)	NC_000016.9:g.58580237T>C	VUS	1 lab	9e4c2db205
19:12924260 RNASEH2A G>A	19	12924260	12924260	G	A	RNASEH2A	c.880G>A	NM_006397.3	NP_006388.2:p.(Glu294Lys)	NC_000019.9:g.12924260G>A	VUS	1 lab	9db67b0dc3
14:100728688 YY1 A>G	14	100728688	100728688	A	G	YY1	c.727A>G	NM_003403.5	NP_003394.1:p.(Ile243Val)	NC_000014.8:g.100728688A>G	(Likely) benign	1 lab	9dda9c10b7
9:135946920 CEL G>C	9	135946920	135946920	G	C	CEL	c.2031G>C	NM_001807.6	NP_001798.3:p.(Gly677=)	NC_000009.11:g.135946920G>C	(Likely) benign	1 lab	9ddfca9755
19:36395388 TYROBP G>A	19	36395388	36395388	G	A	TYROBP	c.*83C>T	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36395388G>A	(Likely) benign	1 lab	9ded442ee3
1:8422886 RERE C>A	1	8422886	8422886	C	A	RERE	c.1759G>T	NM_001042681.2	NP_001036146.1:p.(Gly587Cys)	NC_000001.10:g.8422886C>A	VUS	1 lab	9e09059551
10:112349422 SMC3 T>C	10	112349422	112349422	T	C	SMC3	c.1365T>C	NM_005445.4	NP_005436.1:p.(Tyr455=)	NC_000010.10:g.112349422T>C	(Likely) benign	1 lab	9e255d0766
12:9020853 A2ML1 C>T	12	9020853	9020853	C	T	A2ML1	c.3961C>T	NM_144670.6	NP_653271.3:p.(Pro1321Ser)	NC_000012.11:g.9020853C>T	(Likely) benign	1 lab	9e5a19f7f4
2:206590790 NRP2 A>G	2	206590790	206590790	A	G	NRP2	c.974A>G	NM_003872.3	NP_003863.2:p.(Asn325Ser)	NC_000002.11:g.206590790A>G	VUS	1 lab	9e6627980e
X:132888183 GPC3 G>A	X	132888183	132888183	G	A	GPC3	c.358C>T	NM_004484.4	NP_004475.1:p.(Arg120Cys)	NC_000023.10:g.132888183G>A	(Likely) benign	1 lab	9e78eb822e
20:31388077 DNMT3B C>T	20	31388077	31388077	C	T	DNMT3B	c.1878C>T	NM_006892.4	NP_008823.1:p.(Asn626=)	NC_000020.10:g.31388077C>T	(Likely) benign	1 lab	9e7930f07a
8:144998028 PLEC G>C	8	144998028	144998028	G	C	PLEC	c.6069C>G	NM_201384.3	NP_958786.1:p.(Arg2023=)	NC_000008.10:g.144998028G>C	(Likely) benign	1 lab	9e7b80e926
11:4045229 STIM1 C>T	11	4045229	4045229	C	T	STIM1	c.385+12C>T	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4045229C>T	(Likely) benign	1 lab	9f03a0a292
10:89505641 PAPSS2 G>A	10	89505641	89505641	G	A	PAPSS2	c.1774G>A	NM_001015880.2	NP_001015880.1:p.(Glu592Lys)	NC_000010.10:g.89505641G>A	(Likely) benign	1 lab	9f2d00392f
20:1235088 RAD21L1 T>C	20	1235088	1235088	T	C	RAD21L1	c.1655T>C	NM_001384355.1	NP_001371284.1:p.(Phe552Ser)	NC_000020.10:g.1235088T>C	VUS	1 lab	9f40150a67
8:68137383 ARFGEF1 T>G	8	68137383	68137383	T	G	ARFGEF1	c.4078-115A>C	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68137383T>G	VUS	1 lab	9f6b609c4e
1:161332268 SDHC C>A	1	161332268	161332268	C	A	SDHC	c.*45C>A	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332268C>A	VUS	1 lab	9fa1a37482
6:117199131 RFX6 A>G	6	117199131	117199131	A	G	RFX6	c.380+16A>G	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117199131A>G	(Likely) benign	1 lab	9fc7a3ddf3
17:29527616 NF1 A>G	17	29527616	29527616	A	G	NF1	c.1062+3A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29527616A>G	(Likely) pathogenic	1 lab	9fdebae561
11:17428481 ABCC8 C>T	11	17428481	17428481	C	T	ABCC8	c.3116G>A	NM_000352.6	NP_000343.2:p.(Ser1039Asn)	NC_000011.9:g.17428481C>T	VUS	1 lab	a09debb121
15:49059645 CEP152 A>C	15	49059645	49059645	A	C	CEP152	c.2034T>G	NM_001194998.2	NP_001181927.1:p.(Tyr678Ter)	NC_000015.9:g.49059645A>C	(Likely) pathogenic	1 lab	a0a5266590
20:43629911 STK4 T>C	20	43629911	43629911	T	C	STK4	c.1064T>C	NM_006282.5	NP_006273.1:p.(Ile355Thr)	NC_000020.10:g.43629911T>C	(Likely) benign	1 lab	a0d50ad4c6
1:981353 AGRN C>T	1	981353	981353	C	T	AGRN	c.2690C>T	NM_198576.4	NP_940978.2:p.(Ala897Val)	NC_000001.10:g.981353C>T	(Likely) benign	1 lab	a1663ee2a3
13:111137391 COL4A2 G>A	13	111137391	111137391	G	A	COL4A2	c.3025+17G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111137391G>A	(Likely) benign	1 lab	a19031b700
9:135946968 CEL G>C	9	135946968	135946968	G	C	CEL	c.2079G>C	NM_001807.6	NP_001798.3:p.(Pro693=)	NC_000009.11:g.135946968G>C	(Likely) benign	1 lab	a1a309fd20
16:67863280 CENPT C>T	16	67863280	67863280	C	T	CENPT	c.1280+46G>A	NM_025082.4	NP_079358.3:p.?	NC_000016.9:g.67863280C>T	VUS	1 lab	a1bb26cfa9
1:152278843 FLG G>T	1	152278843	152278843	G	T	FLG	c.8519C>A	NM_002016.2	NP_002007.1:p.(Thr2840Lys)	NC_000001.10:g.152278843G>T	(Likely) benign	1 lab	a1cbffe1bd
14:102391518 PPP2R5C G>T	14	102391518	102391518	G	T	PPP2R5C	c.1577G>T	NM_001161725.2	NP_001155197.1:p.(Arg526Leu)	NC_000014.8:g.102391518G>T	VUS	1 lab	a226c02501
2:71871188 DYSF C>T	2	71871188	71871188	C	T	DYSF	c.4621C>T	NM_001130987.2	NP_001124459.1:p.(Leu1541=)	NC_000002.11:g.71871188C>T	(Likely) benign	1 lab	a2a61f086b
10:135183410 ECHS1 CAT>C	10	135183410	135183413	CAT	C	ECHS1	c.410_411del	NM_004092.4	NP_004083.3:p.(Tyr137CysfsTer7)	NC_000010.10:g.135183412_135183413del	(Likely) pathogenic	1 lab	a2b2cffa70
14:55369108 GCH1 G>T	14	55369108	55369108	G	T	GCH1	c.274C>A	NM_000161.3	NP_000152.1:p.(Leu92Ile)	NC_000014.8:g.55369108G>T	VUS	1 lab	a2e74af32f
21:47552449 COL6A2 A>C	21	47552449	47552449	A	C	COL6A2	c.3043A>C	NM_001849.4	NP_001840.3:p.(Ile1015Leu)	NC_000021.8:g.47552449A>C	(Likely) benign	1 lab	a3554c7195
16:2149725 PKD1 C>A	16	2149725	2149725	C	A	PKD1	c.9970G>T	NM_001009944.3	NP_001009944.3:p.(Ala3324Ser)	NC_000016.9:g.2149725C>A	VUS	1 lab	a3bd97323d
9:135940503 CEL C>T	9	135940503	135940503	C	T	CEL	c.417C>T	NM_001807.6	NP_001798.3:p.(Phe139=)	NC_000009.11:g.135940503C>T	(Likely) benign	1 lab	a3e66af24b
7:6012997 PMS2 G>A	7	6012997	6012997	G	A	PMS2	c.*33C>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6012997G>A	VUS	1 lab	a4080f0c1a
2:71762406 DYSF C>T	2	71762406	71762406	C	T	DYSF	c.1458C>T	NM_001130987.2	NP_001124459.1:p.(Ser486=)	NC_000002.11:g.71762406C>T	(Likely) benign	1 lab	a46a9559b9
11:34097803 CAPRIN1 GAC>G	11	34097803	34097806	GAC	G	CAPRIN1	c.389_390del	NM_005898.5	NP_005889.3:p.(Thr130SerfsTer12)	NC_000011.9:g.34097805_34097806del	(Likely) pathogenic	1 lab	a47a21bc13
11:17414556 ABCC8 G>A	11	17414556	17414556	G	A	ABCC8	c.4728C>T	NM_000352.6	NP_000343.2:p.(Phe1576=)	NC_000011.9:g.17414556G>A	(Likely) benign	1 lab	a49b581b83
9:124089722 GSN G>A	9	124089722	124089722	G	A	GSN	c.1724G>A	NM_198252.3	NP_937895.1:p.(Arg575Gln)	NC_000009.11:g.124089722G>A	(Likely) benign	1 lab	a4a70dadfa
13:110835579 COL4A1 G>C	13	110835579	110835579	G	C	COL4A1	c.1942C>G	NM_001845.6	NP_001836.3:p.(Pro648Ala)	NC_000013.10:g.110835579G>C	VUS	1 lab	a4c059f0b5
20:44526742 CTSA G>A	20	44526742	44526742	G	A	CTSA	c.1353G>A	NM_000308.4	NP_000299.3:p.(Thr451=)	NC_000020.10:g.44526742G>A	(Likely) benign	1 lab	a4c7fcdb25
X:69255397 EDA A>G	X	69255397	69255397	A	G	EDA	c.1114A>G	NM_001399.5	NP_001390.1:p.(Asn372Asp)	NC_000023.10:g.69255397A>G	(Likely) pathogenic	1 lab	a50e8de9a5
9:135946691 CEL CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG>C	9	135946691	135946862	CCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG	C	CEL	c.1810_1973del	NM_001807.6	NP_001798.3:p.(Val604ArgfsTer6)	NC_000009.11:g.135946699_135946862del	(Likely) benign	1 lab	a5554483c7
1:201046058 CACNA1S C>T	1	201046058	201046058	C	T	CACNA1S	c.1817G>A	NM_000069.3	NP_000060.2:p.(Ser606Asn)	NC_000001.10:g.201046058C>T	(Likely) benign	1 lab	a5591c4cba
16:23640825 PALB2 A>G	16	23640825	23640825	A	G	PALB2	c.2514+136T>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640825A>G	(Likely) benign	1 lab	a58144b26f
2:233391306 CHRND G>A	2	233391306	233391306	G	A	CHRND	c.120G>A	NM_000751.3	NP_000742.1:p.(Lys40=)	NC_000002.11:g.233391306G>A	(Likely) benign	1 lab	a5e5de8e1c
6:29640951 ZFP57 T>C	6	29640951	29640951	T	C	ZFP57	c.937A>G	NM_001109809.5	NP_001103279.2:p.(Arg313Gly)	NC_000006.11:g.29640951T>C	(Likely) benign	1 lab	a5f2e030de
16:1129525 SSTR5 G>A	16	1129525	1129525	G	A	SSTR5	c.657G>A	NM_001172560.3	NP_001166031.1:p.(Leu219=)	NC_000016.9:g.1129525G>A	(Likely) benign	1 lab	a653ed9bd3
7:148525979 EZH2 C>T	7	148525979	148525979	C	T	EZH2	c.485-7G>A	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148525979C>T	(Likely) benign	1 lab	a65783ddff
16:2158413 PKD1 GCCA>G	16	2158413	2158418	GCCA	G	PKD1	c.6752_6754del	NM_001009944.3	NP_001009944.3:p.(Val2251del)	NC_000016.9:g.2158416_2158418del	(Likely) pathogenic	1 lab	a6601cfc07
7:124510981 POT1 C>T	7	124510981	124510981	C	T	POT1	c.239G>A	NM_015450.3	NP_056265.2:p.(Arg80His)	NC_000007.13:g.124510981C>T	VUS	1 lab	a6e08f2a64
6:111688670 REV3L T>A	6	111688670	111688670	T	A	REV3L	c.6321A>T	NM_002912.5	NP_002903.3:p.(Glu2107Asp)	NC_000006.11:g.111688670T>A	(Likely) benign	1 lab	a6f6d7f5bb
X:154194315 F8 C>T	X	154194315	154194315	C	T	F8	c.1373G>A	NM_000132.4	NP_000123.1:p.(Arg458His)	NC_000023.10:g.154194315C>T	VUS	1 lab	a70c1394ea
21:33057720 SCAF4 T>G	21	33057720	33057720	T	G	SCAF4	c.2287A>C	NM_020706.2	NP_065757.1:p.(Ile763Leu)	NC_000021.8:g.33057720T>G	VUS	1 lab	bdc02e1adc
7:156801687 MNX1 G>T	7	156801687	156801687	G	T	MNX1	c.691+667C>A	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156801687G>T	(Likely) benign	1 lab	a72c8788fc
15:43028912 CDAN1 G>A	15	43028912	43028912	G	A	CDAN1	c.157C>T	NM_138477.4	NP_612486.2:p.(Leu53=)	NC_000015.9:g.43028912G>A	(Likely) benign	1 lab	a7402e4c13
6:74363525 SLC17A5 C>T	6	74363525	74363525	C	T	SLC17A5	c.85G>A	NM_012434.5	NP_036566.1:p.(Ala29Thr)	NC_000006.11:g.74363525C>T	(Likely) benign	1 lab	a74bb0be14
X:595438 SHOX C>T	X	595438	595438	C	T	SHOX	c.363C>T	NM_000451.3	NP_000442.1:p.(Arg121=)	NC_000023.10:g.595438C>T	(Likely) benign	1 lab	a755b698ee
19:39070695 RYR1 A>G	19	39070695	39070695	A	G	RYR1				NC_000019.9:g.39070695A>G	VUS	1 lab	a75c55c6fd
6:51934300 PKHD1 G>A	6	51934300	51934300	G	A	PKHD1	c.733C>T	NM_138694.4	NP_619639.3:p.(Leu245=)	NC_000006.11:g.51934300G>A	(Likely) benign	1 lab	a9e671874b
1:22205601 HSPG2 T>C	1	22205601	22205601	T	C	HSPG2	c.2357A>G	NM_005529.7	NP_005520.4:p.(Asn786Ser)	NC_000001.10:g.22205601T>C	(Likely) benign	1 lab	a81b68b57e
13:28578213 FLT3 C>T	13	28578213	28578213	C	T	FLT3	c.2958G>A	NM_004119.3	NP_004110.2:p.(Pro986=)	NC_000013.10:g.28578213C>T	(Likely) benign	1 lab	a82c8584b7
15:99451976 IGF1R G>A	15	99451976	99451976	G	A	IGF1R	c.1310G>A	NM_000875.5	NP_000866.1:p.(Arg437His)	NC_000015.9:g.99451976G>A	(Likely) benign	1 lab	a8cf43d6f4
4:655963 PDE6B G>A	4	655963	655963	G	A	PDE6B	c.1655G>A	NM_000283.4	NP_000274.3:p.(Arg552Gln)	NC_000004.11:g.655963G>A	(Likely) pathogenic	1 lab	a961ab9a4e
2:54891813 SPTBN1 A>G	2	54891813	54891813	A	G	SPTBN1	c.6644A>G	NM_003128.3	NP_003119.2:p.(Lys2215Arg)	NC_000002.11:g.54891813A>G	(Likely) benign	1 lab	a97c5e26de
7:31013743 GHRHR C>T	7	31013743	31013743	C	T	GHRHR	c.741C>T	NM_000823.4	NP_000814.2:p.(Leu247=)	NC_000007.13:g.31013743C>T	(Likely) benign	1 lab	a98a65bbfd
17:41245951 BRCA1 T>C	17	41245951	41245951	T	C	BRCA1	c.1597A>G	NM_007294.4	NP_009225.1:p.(Asn533Asp)	NC_000017.10:g.41245951T>C	(Likely) benign	1 lab	aa0e65b3c6
10:89473068 PAPSS2 GTA>G	10	89473068	89473070	GTA	G	PAPSS2	c.381+2_381+3del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473069_89473070del	VUS	1 lab	aa14fcd12e
8:11565893 GATA4 C>G	8	11565893	11565893	C	G	GATA4	c.72C>G	NM_001308093.3	NP_001295022.1:p.(Gly24=)	NC_000008.10:g.11565893C>G	(Likely) benign	1 lab	aa2177a3aa
15:89401814 ACAN G>A	15	89401814	89401814	G	A	ACAN	c.5998G>A	NM_001369268.1	NP_001356197.1:p.(Gly2000Ser)	NC_000015.9:g.89401814G>A	(Likely) benign	1 lab	aa32d3b457
12:121431382 HNF1A A>G	12	121431382	121431382	A	G	HNF1A	c.586A>G	NM_000545.8	NP_000536.6:p.(Thr196Ala)	NC_000012.11:g.121431382A>G	(Likely) benign	1 lab	aa465fc6d6
2:47748808 MSH2 G>A	2	47748808	47748808	G	A	MSH2				NC_000002.11:g.47748808G>A	(Likely) benign	1 lab	aa6ad43e56
6:112451145 LAMA4 C>T	6	112451145	112451145	C	T	LAMA4	c.4045G>A	NM_002290.5	NP_002281.3:p.(Gly1349Ser)	NC_000006.11:g.112451145C>T	VUS	1 lab	aa6eace5f9
9:4544721 SLC1A1 A>T	9	4544721	4544721	A	T	SLC1A1	c.232+14A>T	NM_004170.6	NP_004161.4:p.?	NC_000009.11:g.4544721A>T	(Likely) benign	1 lab	c1c709c755
10:89469083 PAPSS2 C>CAT	10	89469083	89469102	C	CAT	PAPSS2	c.145+31_145+32dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89469101_89469102dup	(Likely) benign	1 lab	aa78ae2d82
5:79970914 MSH3 C>CA	5	79970914	79970922	C	CA	MSH3	c.1148dup	NM_002439.5	NP_002430.3:p.(Asn385GlnfsTer19)	NC_000005.9:g.79970922dup	(Likely) pathogenic	1 lab	aa7d6f5b7b
15:99473473 IGF1R C>T	15	99473473	99473473	C	T	IGF1R	c.2895C>T	NM_000875.5	NP_000866.1:p.(Ser965=)	NC_000015.9:g.99473473C>T	(Likely) benign	1 lab	aa952dffe8
19:18896470 COMP A>C	19	18896470	18896470	A	C	COMP	c.1668+13T>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896470A>C	(Likely) benign	1 lab	aa9f1daf14
6:76550332 MYO6 C>A	6	76550332	76550332	C	A	MYO6	c.584C>A	NM_004999.3	NP_004990.3:p.(Ala195Glu)	NC_000006.11:g.76550332C>A	(Likely) pathogenic	1 lab	aadeb774c6
6:29641514 ZFP57 C>T	6	29641514	29641514	C	T	ZFP57	c.374G>A	NM_001109809.5	NP_001103279.2:p.(Arg125Gln)	NC_000006.11:g.29641514C>T	(Likely) benign	1 lab	ab6bb4e01e
5:176824007 SLC34A1 G>A	5	176824007	176824007	G	A	SLC34A1	c.1348G>A	NM_003052.5	NP_003043.3:p.(Gly450Ser)	NC_000005.9:g.176824007G>A	VUS	1 lab	ac037b2fcf
15:99454539 IGF1R C>A	15	99454539	99454539	C	A	IGF1R	c.1463-5C>A	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99454539C>A	(Likely) benign	1 lab	ac7a3c25b7
11:86662841 FZD4 C>T	11	86662841	86662841	C	T	FZD4	c.957G>A	NM_012193.3	NP_036325.2:p.(Trp319Ter)	NC_000011.9:g.86662841C>T	(Likely) pathogenic	1 lab	acdc2c0219
7:6027267 PMS2 C>T	7	6027267	6027267	C	T	PMS2	c.1145-16G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6027267C>T	(Likely) benign	1 lab	ad67920a73
20:5974153 MCM8 A>G	20	5974153	5974153	A	G	MCM8	c.2242A>G	NM_032485.6	NP_115874.3:p.(Met748Val)	NC_000020.10:g.5974153A>G	VUS	1 lab	b6bbab41b6
13:32913181 BRCA2 G>A	13	32913181	32913181	G	A	BRCA2	c.4689G>A	NM_000059.4	NP_000050.3:p.(Trp1563Ter)	NC_000013.10:g.32913181G>A	(Likely) pathogenic	1 lab	ad950bb9c7
10:124248442 HTRA1 G>T	10	124248442	124248442	G	T	HTRA1	c.497G>T	NM_002775.5	NP_002766.1:p.(Arg166Leu)	NC_000010.10:g.124248442G>T	(Likely) pathogenic	1 lab	adc26fcb76
6:26087649 HFE G>A	6	26087649	26087649	G	A	HFE	c.-20G>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26087649G>A	(Likely) pathogenic	1 lab	adf80c04a6
2:198257075 SF3B1 G>A	2	198257075	198257075	G	A	SF3B1	c.3867C>T	NM_012433.4	NP_036565.2:p.(Asn1289=)	NC_000002.11:g.198257075G>A	(Likely) benign	1 lab	ae07fc2fe8
22:29091804 CHEK2 A>T	22	29091804	29091804	A	T	CHEK2	c.1153T>A	NM_007194.4	NP_009125.1:p.(Cys385Ser)	NC_000022.10:g.29091804A>T	VUS	1 lab	ae11bd4580
3:131219351 MRPL3 C>A	3	131219351	131219351	C	A	MRPL3	c.292G>T	NM_007208.3	NP_009139.1:p.(Gly98Cys)	NC_000003.11:g.131219351C>A	VUS	1 lab	ae302946e0
17:36060978 HNF1B G>A	17	36060978	36060978	G	A	HNF1B	c.1534+10C>T	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36060978G>A	(Likely) benign	1 lab	ae35afda9e
12:53070836 KRT1 C>A	12	53070836	53070836	C	A	KRT1	c.1254+7G>T	NM_006121.4	NP_006112.3:p.?	NC_000012.11:g.53070836C>A	(Likely) benign	1 lab	ae75fcd490
2:220417364 OBSL1 G>T	2	220417364	220417364	G	T	OBSL1	c.5202C>A	NM_015311.3	NP_056126.1:p.(Asp1734Glu)	NC_000002.11:g.220417364G>T	(Likely) benign	1 lab	ae7846a8e8
2:242179464 HDLBP C>A	2	242179464	242179464	C	A	HDLBP	c.2243G>T	NM_005336.6	NP_005327.1:p.(Gly748Val)	NC_000002.11:g.242179464C>A	VUS	1 lab	ae7cf77ce9
1:169487798 F5 C>T	1	169487798	169487798	C	T	F5	c.6197G>A	NM_000130.5	NP_000121.2:p.(Cys2066Tyr)	NC_000001.10:g.169487798C>T	(Likely) pathogenic	1 lab	aed15b8e30
9:135940488 CEL C>G	9	135940488	135940488	C	G	CEL	c.402C>G	NM_001807.6	NP_001798.3:p.(Gly134=)	NC_000009.11:g.135940488C>G	(Likely) benign	1 lab	aeedbbaed0
15:99434798 IGF1R G>A	15	99434798	99434798	G	A	IGF1R	c.885G>A	NM_000875.5	NP_000866.1:p.(Gly295=)	NC_000015.9:g.99434798G>A	(Likely) benign	1 lab	af67b695b5
17:7124899 ACADVL G>A	17	7124899	7124899	G	A	ACADVL	c.520G>A	NM_000018.4	NP_000009.1:p.(Val174Met)	NC_000017.10:g.7124899G>A	(Likely) pathogenic	1 lab	af959ad481
7:44185195 GCK C>T	7	44185195	44185195	C	T	GCK	c.1154G>A	NM_000162.5	NP_000153.1:p.(Gly385Glu)	NC_000007.13:g.44185195C>T	VUS	1 lab	afd15a7fc4
4:3211667 HTT G>C	4	3211667	3211667	G	C	HTT	c.6405G>C	NM_001388492.1	NP_001375421.1:p.(Met2135Ile)	NC_000004.11:g.3211667G>C	VUS	1 lab	b03c4c7704
2:48025764 MSH6 CG>TT	2	48025764	48025765	CG	TT	MSH6	c.642_643delinsTT	NM_000179.3	NP_000170.1:p.(Val215Leu)	NC_000002.11:g.48025764_48025765delinsTT	(Likely) benign	1 lab	b05a545ac4
8:68213613 ARFGEF1 G>C	8	68213613	68213613	G	C	ARFGEF1	c.158C>G	NM_006421.5	NP_006412.2:p.(Pro53Arg)	NC_000008.10:g.68213613G>C	VUS	1 lab	b07d508034
8:21986496 HR G>C	8	21986496	21986496	G	C	HR	c.188C>G	NM_005144.5	NP_005135.2:p.(Pro63Arg)	NC_000008.10:g.21986496G>C	(Likely) benign	1 lab	b07ed3b1c9
15:89398883 ACAN A>G	15	89398883	89398883	A	G	ACAN	c.3067A>G	NM_001369268.1	NP_001356197.1:p.(Thr1023Ala)	NC_000015.9:g.89398883A>G	(Likely) benign	1 lab	b0c6da8f9a
12:112743865 HECTD4 T>C	12	112743865	112743865	T	C	HECTD4	c.1335+3A>G	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112743865T>C	(Likely) benign	1 lab	b109d28e69
16:67862420 CENPT G>A	16	67862420	67862420	G	A	CENPT	c.1519C>T	NM_025082.4	NP_079358.3:p.(Arg507Cys)	NC_000016.9:g.67862420G>A	VUS	1 lab	b125aaba2a
7:143013285 CLCN1 C>T	7	143013285	143013285	C	T	CLCN1	c.-21C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143013285C>T	(Likely) benign	1 lab	b1395b9f8f
3:47049067 NBEAL2 C>T	3	47049067	47049067	C	T	NBEAL2	c.7387C>T	NM_015175.3	NP_055990.1:p.(Gln2463Ter)	NC_000003.11:g.47049067C>T	(Likely) pathogenic	1 lab	b14544b9a8
17:36061132 HNF1B C>T	17	36061132	36061132	C	T	HNF1B	c.1390G>A	NM_000458.4	NP_000449.1:p.(Gly464Ser)	NC_000017.10:g.36061132C>T	(Likely) benign	1 lab	b157620d31
4:175414330 HPGD C>T	4	175414330	175414330	C	T	HPGD	c.634G>A	NM_000860.6	NP_000851.2:p.(Asp212Asn)	NC_000004.11:g.175414330C>T	(Likely) benign	1 lab	b159e07100
16:2141395 PKD1 G>A	16	2141395	2141395	G	A	PKD1	c.11712+29C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2141395G>A	(Likely) benign	1 lab	b1749a0f44
21:47841977 PCNT G>A	21	47841977	47841977	G	A	PCNT	c.7118G>A	NM_006031.6	NP_006022.3:p.(Gly2373Glu)	NC_000021.8:g.47841977G>A	(Likely) benign	1 lab	b191786ea1
15:99482583 IGF1R A>G	15	99482583	99482583	A	G	IGF1R	c.3451A>G	NM_000875.5	NP_000866.1:p.(Ile1151Val)	NC_000015.9:g.99482583A>G	VUS	1 lab	b1d9180a9c
11:68125186 LRP5 G>A	11	68125186	68125186	G	A	LRP5	c.557G>A	NM_002335.4	NP_002326.2:p.(Arg186Gln)	NC_000011.9:g.68125186G>A	VUS	1 lab	b228728830
15:39881494 THBS1 C>G	15	39881494	39881494	C	G	THBS1	c.1865C>G	NM_003246.4	NP_003237.2:p.(Pro622Arg)	NC_000015.9:g.39881494C>G	VUS	1 lab	b282721dc7
1:52840559 ORC1 C>T	1	52840559	52840559	C	T	ORC1	c.2314G>A	NM_004153.4	NP_004144.2:p.(Val772Ile)	NC_000001.10:g.52840559C>T	(Likely) benign	1 lab	b3128ff10f
2:152541295 NEB G>A	2	152541295	152541295	G	A	NEB	c.2832C>T	NM_001164508.2	NP_001157980.2:p.(Ser944=)	NC_000002.11:g.152541295G>A	(Likely) benign	1 lab	b34a0c85ab
16:1840983 IGFALS C>T	16	1840983	1840983	C	T	IGFALS	c.1436G>A	NM_004970.3	NP_004961.1:p.(Gly479Asp)	NC_000016.9:g.1840983C>T	(Likely) benign	1 lab	b3938c0d26
17:30264523 SUZ12 C>T	17	30264523	30264523	C	T	SUZ12	c.258C>T	NM_015355.4	NP_056170.2:p.(Phe86=)	NC_000017.10:g.30264523C>T	VUS	1 lab	b3dc347dfa
19:42848972 MEGF8 C>A	19	42848972	42848972	C	A	MEGF8	c.2084C>A	NM_001271938.2	NP_001258867.1:p.(Ser695Tyr)	NC_000019.9:g.42848972C>A	VUS	1 lab	b423d82737
5:10381975 MARCHF6 G>A	5	10381975	10381975	G	A	MARCHF6	c.254G>A	NM_005885.4	NP_005876.2:p.(Ser85Asn)	NC_000005.9:g.10381975G>A	VUS	1 lab	b43bef6520
12:6131999 VWF A>G	12	6131999	6131999	A	G	VWF	c.3445T>C	NM_000552.5	NP_000543.3:p.(Cys1149Arg)	NC_000012.11:g.6131999A>G	(Likely) pathogenic	1 lab	b4713d56da
12:56082012 ITGA7 A>G	12	56082012	56082012	A	G	ITGA7	c.3031T>C	NM_002206.3	NP_002197.2:p.(Leu1011=)	NC_000012.11:g.56082012A>G	(Likely) benign	1 lab	b4af99f24c
16:2152182 PKD1 C>T	16	2152182	2152182	C	T	PKD1	c.9277G>A	NM_001009944.3	NP_001009944.3:p.(Ala3093Thr)	NC_000016.9:g.2152182C>T	VUS	1 lab	b51dea2fb1
2:238280476 COL6A3 C>T	2	238280476	238280476	C	T	COL6A3	c.4184G>A	NM_004369.4	NP_004360.2:p.(Arg1395Gln)	NC_000002.11:g.238280476C>T	(Likely) benign	1 lab	b5a1b255ec
15:31355363 TRPM1 G>A	15	31355363	31355363	G	A	TRPM1	c.923C>T	NM_001252024.2	NP_001238953.1:p.(Ser308Leu)	NC_000015.9:g.31355363G>A	(Likely) pathogenic	1 lab	b61c50cdb5
2:228125839 COL4A3 T>C	2	228125839	228125839	T	C	COL4A3	c.1150+6T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228125839T>C	VUS	1 lab	b68896902d
19:13318283 CACNA1A G>T	19	13318283	13318283	G	T	CACNA1A	c.7365C>A	NM_001127222.2	NP_001120694.1:p.(Pro2455=)	NC_000019.9:g.13318283G>T	(Likely) benign	1 lab	b6f6117ed5
1:237955415 RYR2 C>T	1	237955415	237955415	C	T	RYR2	c.13574C>T	NM_001035.3	NP_001026.2:p.(Ser4525Phe)	NC_000001.10:g.237955415C>T	VUS	1 lab	b7111a55ed
13:28494437 PDX1 G>A	13	28494437	28494437	G	A	PDX1	c.162G>A	NM_000209.4	NP_000200.1:p.(Leu54=)	NC_000013.10:g.28494437G>A	(Likely) benign	1 lab	b7dc51c521
1:45799121 MUTYH G>T	1	45799121	45799121	G	T	MUTYH	c.312C>A	NM_001128425.2	NP_001121897.1:p.(Tyr104Ter)	NC_000001.10:g.45799121G>T	(Likely) pathogenic	1 lab	b7e06fa5a0
17:36091747 HNF1B C>T	17	36091747	36091747	C	T	HNF1B	c.884G>A	NM_000458.4	NP_000449.1:p.(Arg295His)	NC_000017.10:g.36091747C>T	(Likely) pathogenic	1 lab	b817ccbb91
1:160093029 ATP1A2 C>T	1	160093029	160093029	C	T	ATP1A2	c.204C>T	NM_000702.4	NP_000693.1:p.(Asp68=)	NC_000001.10:g.160093029C>T	(Likely) benign	1 lab	b82c11d832
17:18027834 MYO15A G>A	17	18027834	18027834	G	A	MYO15A	c.3647G>A	NM_016239.4	NP_057323.3:p.(Arg1216His)	NC_000017.10:g.18027834G>A	VUS	1 lab	b8870af322
8:42711439 RNF170 T>C	8	42711439	42711439	T	C	RNF170	c.640A>G	NM_030954.4	NP_112216.3:p.(Ile214Val)	NC_000008.10:g.42711439T>C	(Likely) pathogenic	1 lab	b88f4d1cc0
22:29121348 CHEK2 C>T	22	29121348	29121348	C	T	CHEK2	c.327G>A	NM_007194.4	NP_009125.1:p.(Val109=)	NC_000022.10:g.29121348C>T	(Likely) benign	1 lab	b8c71e667e
5:113741722 KCNN2 A>T	5	113741722	113741722	A	T	KCNN2	c.1637+1169A>T	NM_021614.4	NP_067627.3:p.?	NC_000005.9:g.113741722A>T	(Likely) benign	1 lab	b930c1f782
8:56982383 RPS20 A>G	8	56982383	56982383	A	G	RPS20	c.343T>C	NM_001146227.1	NP_001139699.1:p.(Ser115Pro)	NC_000008.10:g.56982383A>G	(Likely) benign	1 lab	b936abcea1
1:985826 AGRN G>A	1	985826	985826	G	A	AGRN	c.4996G>A	NM_198576.4	NP_940978.2:p.(Val1666Ile)	NC_000001.10:g.985826G>A	(Likely) benign	1 lab	b93aff14a2
16:8900204 PMM2 T>G	16	8900204	8900204	T	G	PMM2	c.287T>G	NM_000303.3	NP_000294.1:p.(Ile96Ser)	NC_000016.9:g.8900204T>G	VUS	1 lab	b966de83d0
4:1927501 NSD2 T>A	4	1927501	1927501	T	A	NSD2	c.1411-4852T>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1927501T>A	(Likely) benign	1 lab	b9805722fc
19:50906865 POLD1 G>T	19	50906865	50906865	G	T	POLD1	c.1242+11G>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50906865G>T	VUS	1 lab	b9d28197de
20:43042364 HNF4A C>T	20	43042364	43042364	C	T	HNF4A	c.416C>T	NM_000457.5	NP_000448.3:p.(Thr139Ile)	NC_000020.10:g.43042364C>T	(Likely) benign	1 lab	b9dde06237
13:32915221 BRCA2 TA>T	13	32915221	32915224	TA	T	BRCA2	c.6732del	NM_000059.4	NP_000050.3:p.(Lys2244AsnfsTer36)	NC_000013.10:g.32915224del	(Likely) pathogenic	1 lab	b9ea7c1114
15:99465451 IGF1R C>G	15	99465451	99465451	C	G	IGF1R	c.2276C>G	NM_000875.5	NP_000866.1:p.(Ala759Gly)	NC_000015.9:g.99465451C>G	(Likely) benign	1 lab	ba5788ed34
12:13724823 GRIN2B G>A	12	13724823	13724823	G	A	GRIN2B	c.2086C>T	NM_000834.5	NP_000825.2:p.(Arg696Cys)	NC_000012.11:g.13724823G>A	(Likely) pathogenic	1 lab	ba6710683c
17:41256118 BRCA1 GAA>G	17	41256118	41256120	GAA	G	BRCA1	c.441+19_441+20del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256119_41256120del	(Likely) benign	1 lab	ba8bd6766d
20:18534947 SEC23B G>T	20	18534947	18534947	G	T	SEC23B	c.2061G>T	NM_006363.6	NP_006354.2:p.(Leu687=)	NC_000020.10:g.18534947G>T	(Likely) benign	1 lab	babbb06cd4
18:2697809 SMCHD1 T>G	18	2697809	2697809	T	G	SMCHD1	c.1132-20T>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2697809T>G	(Likely) benign	1 lab	baf39f52be
19:13325396 CACNA1A C>T	19	13325396	13325396	C	T	CACNA1A	c.5758G>A	NM_001127222.2	NP_001120694.1:p.(Ala1920Thr)	NC_000019.9:g.13325396C>T	VUS	1 lab	bb1235ea3f
12:6128638 VWF C>T	12	6128638	6128638	C	T	VWF	c.3946G>A	NM_000552.5	NP_000543.3:p.(Val1316Met)	NC_000012.11:g.6128638C>T	(Likely) pathogenic	1 lab	bb2d1bf93f
20:5943985 MCM8 G>A	20	5943985	5943985	G	A	MCM8	c.855G>A	NM_032485.6	NP_115874.3:p.(Thr285=)	NC_000020.10:g.5943985G>A	(Likely) benign	1 lab	bb5340b8eb
17:39768472 KRT16 G>A	17	39768472	39768472	G	A	KRT16	c.469C>T	NM_005557.4	NP_005548.2:p.(Arg157Trp)	NC_000017.10:g.39768472G>A	(Likely) benign	1 lab	bb662d60e4
13:111102815 COL4A2 A>G	13	111102815	111102815	A	G	COL4A2	c.1339+14A>G	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111102815A>G	(Likely) benign	1 lab	bb72ad1b34
1:155385692 ASH1L T>C	1	155385692	155385692	T	C	ASH1L	c.5851A>G	NM_018489.3	NP_060959.2:p.(Ile1951Val)	NC_000001.10:g.155385692T>C	VUS	1 lab	bb81df1e82
16:16272792 ABCC6 G>A	16	16272792	16272792	G	A	ABCC6	c.2278C>T	NM_001171.6	NP_001162.5:p.(Arg760Trp)	NC_000016.9:g.16272792G>A	(Likely) pathogenic	1 lab	bba7b2a8a6
11:76901152 MYO7A C>T	11	76901152	76901152	C	T	MYO7A	c.3718C>T	NM_000260.3	NP_000251.3:p.(Arg1240Trp)	NC_000011.9:g.76901152C>T	(Likely) pathogenic	1 lab	bbb7857568
1:1961076 GABRD G>A	1	1961076	1961076	G	A	GABRD	c.934G>A	NM_000815.5	NP_000806.2:p.(Val312Ile)	NC_000001.10:g.1961076G>A	(Likely) benign	1 lab	bbe123fa36
2:227924312 COL4A4 C>A	2	227924312	227924312	C	A	COL4A4	c.2192G>T	NM_000092.5	NP_000083.3:p.(Gly731Val)	NC_000002.11:g.227924312C>A	(Likely) pathogenic	1 lab	bbfb1271f0
10:89469083 PAPSS2 CAT>C	10	89469083	89469102	CAT	C	PAPSS2	c.145+31_145+32del	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89469101_89469102del	(Likely) benign	1 lab	bc0b05788b
9:34656728 IL11RA A>C	9	34656728	34656728	A	C	IL11RA	c.162-8A>C	NM_001142784.3	NP_001136256.1:p.?	NC_000009.11:g.34656728A>C	(Likely) benign	1 lab	bc27dcb2da
5:126147503 LMNB1 T>C	5	126147503	126147503	T	C	LMNB1	c.852T>C	NM_005573.4	NP_005564.1:p.(Ser284=)	NC_000005.9:g.126147503T>C	(Likely) benign	1 lab	bc6173efd5
12:431586 KDM5A T>A	12	431586	431586	T	A	KDM5A	c.2423A>T	NM_001042603.3	NP_001036068.1:p.(His808Leu)	NC_000012.11:g.431586T>A	(Likely) benign	1 lab	bc97f53cb2
5:149449416 CSF1R G>A	5	149449416	149449416	G	A	CSF1R	c.1510+20C>T	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149449416G>A	(Likely) benign	1 lab	bcbfc00cfc
8:27645464 ESCO2 A>C	8	27645464	27645464	A	C	ESCO2	c.1076A>C	NM_001017420.3	NP_001017420.1:p.(Gln359Pro)	NC_000008.10:g.27645464A>C	(Likely) benign	1 lab	bcc569e94a
11:2170469 IGF2 G>A	11	2170469	2170469	G	A	IGF2	c.-362C>T	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170469G>A	(Likely) benign	1 lab	bcc870a8d0
17:56436050 RNF43 G>A	17	56436050	56436050	G	A	RNF43	c.1087C>T	NM_017763.6	NP_060233.3:p.(Arg363Trp)	NC_000017.10:g.56436050G>A	VUS	1 lab	bce41c9bda
15:99192826 IGF1R G>A	15	99192826	99192826	G	A	IGF1R	c.16G>A	NM_000875.5	NP_000866.1:p.(Gly6Arg)	NC_000015.9:g.99192826G>A	(Likely) benign	1 lab	bcf4c97295
9:135937450 CEL G>T	9	135937450	135937450	G	T	CEL	c.61G>T	NM_001807.6	NP_001798.3:p.(Ala21Ser)	NC_000009.11:g.135937450G>T	(Likely) benign	1 lab	bd52fc2c21
19:7174619 INSR A>G	19	7174619	7174619	A	G	INSR	c.1098T>C	NM_000208.4	NP_000199.2:p.(Ser366=)	NC_000019.9:g.7174619A>G	(Likely) benign	1 lab	bd97f7b32e
11:112104138 PTS GT>G	11	112104138	112104147	GT	G	PTS	c.315-8del	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112104147del	(Likely) benign	1 lab	bddca6362b
11:71946996 INPPL1 C>T	11	71946996	71946996	C	T	INPPL1	c.2845C>T	NM_001567.4	NP_001558.3:p.(Arg949Ter)	NC_000011.9:g.71946996C>T	(Likely) pathogenic	1 lab	bddd0a48d1
2:231042276 SP110 A>G	2	231042276	231042276	A	G	SP110	c.1568T>C	NM_080424.4	NP_536349.3:p.(Met523Thr)	NC_000002.11:g.231042276A>G	(Likely) benign	1 lab	bdec8219cb
9:135946901 CEL C>T	9	135946901	135946901	C	T	CEL	c.2012C>T	NM_001807.6	NP_001798.3:p.(Pro671Leu)	NC_000009.11:g.135946901C>T	(Likely) benign	1 lab	be3f23ceb5
15:28459404 HERC2 G>A	15	28459404	28459404	G	A	HERC2	c.6373C>T	NM_004667.6	NP_004658.3:p.(Arg2125Trp)	NC_000015.9:g.28459404G>A	VUS	1 lab	be50424006
11:118366953 KMT2A A>T	11	118366953	118366953	A	T	KMT2A	c.5558-23A>T	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118366953A>T	(Likely) pathogenic	1 lab	be94494101
4:88583405 DMP1 C>A	4	88583405	88583405	C	A	DMP1	c.475C>A	NM_004407.4	NP_004398.1:p.(Gln159Lys)	NC_000004.11:g.88583405C>A	(Likely) benign	1 lab	bebe07d687
3:15529743 COLQ C>T	3	15529743	15529743	C	T	COLQ	c.291G>A	NM_005677.4	NP_005668.2:p.(Ser97=)	NC_000003.11:g.15529743C>T	(Likely) benign	1 lab	bed59209e6
13:28498680 PDX1 G>A	13	28498680	28498680	G	A	PDX1	c.694G>A	NM_000209.4	NP_000200.1:p.(Gly232Ser)	NC_000013.10:g.28498680G>A	VUS	1 lab	bee7b462e0
11:95546226 CEP57 G>C	11	95546226	95546226	G	C	CEP57	c.333G>C	NM_014679.5	NP_055494.2:p.(Gln111His)	NC_000011.9:g.95546226G>C	(Likely) benign	1 lab	beea025f31
4:3502057 DOK7 C>T	4	3502057	3502057	C	T	DOK7	c.1620C>T	NM_001301071.1	NP_001288000.1:p.(Pro540=)	NC_000004.11:g.3502057C>T	(Likely) benign	1 lab	bf46221c48
10:89472953 PAPSS2 C>T	10	89472953	89472953	C	T	PAPSS2	c.267C>T	NM_001015880.2	NP_001015880.1:p.(Leu89=)	NC_000010.10:g.89472953C>T	(Likely) benign	1 lab	bf687ea762
3:139079977 COPB2 G>A	3	139079977	139079977	G	A	COPB2	c.2156C>T	NM_004766.3	NP_004757.1:p.(Ala719Val)	NC_000003.11:g.139079977G>A	VUS	1 lab	bf97f995b2
7:31016193 GHRHR C>T	7	31016193	31016193	C	T	GHRHR	c.1104+20C>T	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016193C>T	(Likely) benign	1 lab	bfce798f10
20:61458135 COL9A3 G>A	20	61458135	61458135	G	A	COL9A3	c.755G>A	NM_001853.4	NP_001844.3:p.(Arg252Gln)	NC_000020.10:g.61458135G>A	(Likely) benign	1 lab	bfec9dedcc
20:44519922 CTSA G>T	20	44519922	44519922	G	T	CTSA	c.-43G>T	NM_000308.2	NP_000299.2:p.?	NC_000020.10:g.44519922G>T	(Likely) benign	1 lab	bff82a0971
5:67575548 PIK3R1 T>C	5	67575548	67575548	T	C	PIK3R1	c.621T>C	NM_181523.3	NP_852664.1:p.(Ile207=)	NC_000005.9:g.67575548T>C	(Likely) benign	1 lab	c01c1a4acb
7:55241755 EGFR G>A	7	55241755	55241755	G	A	EGFR	c.2184+19G>A	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55241755G>A	(Likely) benign	1 lab	c041c30352
12:133256109 POLE G>A	12	133256109	133256109	G	A	POLE	c.552C>T	NM_006231.4	NP_006222.2:p.(Ser184=)	NC_000012.11:g.133256109G>A	(Likely) benign	1 lab	c0530c43a4
19:49206674 FUT2 G>A	19	49206674	49206674	G	A	FUT2	c.461G>A	NM_000511.6	NP_000502.4:p.(Trp154Ter)	NC_000019.9:g.49206674G>A	VUS	1 lab	c096210533
10:43623563 RET T>C	10	43623563	43623563	T	C	RET	c.3191T>C	NM_020975.6	NP_066124.1:p.(Met1064Thr)	NC_000010.10:g.43623563T>C	VUS	1 lab	c09f0cbd5d
7:6045610 PMS2 TCTGATGGACTGAC>T	7	6045610	6045623	TCTGATGGACTGAC	T	PMS2	c.63_75del	NM_000535.7	NP_000526.2:p.(Ser22PhefsTer8)	NC_000007.13:g.6045611_6045623del	(Likely) pathogenic	1 lab	c0a811eac7
6:43017190 CUL7 C>T	6	43017190	43017190	C	T	CUL7	c.1780G>A	NM_014780.5	NP_055595.2:p.(Ala594Thr)	NC_000006.11:g.43017190C>T	(Likely) benign	1 lab	c0ce7f459b
16:1614147 IFT140 C>T	16	1614147	1614147	C	T	IFT140	c.1918G>A	NM_014714.4	NP_055529.2:p.(Asp640Asn)	NC_000016.9:g.1614147C>T	(Likely) benign	1 lab	c101fdae40
9:135946665 CEL C>T	9	135946665	135946665	C	T	CEL	c.1776C>T	NM_001807.6	NP_001798.3:p.(Pro592=)	NC_000009.11:g.135946665C>T	(Likely) benign	1 lab	c12bb32129
1:11291443 MTOR C>T	1	11291443	11291443	C	T	MTOR	c.2563G>A	NM_004958.4	NP_004949.1:p.(Val855Ile)	NC_000001.10:g.11291443C>T	VUS	1 lab	c175b253df
10:90697901 ACTA2 CT>C	10	90697901	90697902	CT	C	ACTA2	c.906del	NM_001613.4	NP_001604.1:p.(Gly304AlafsTer19)	NC_000010.10:g.90697902del	(Likely) pathogenic	1 lab	c19b158ddf
15:99250933 IGF1R G>T	15	99250933	99250933	G	T	IGF1R	c.237G>T	NM_000875.5	NP_000866.1:p.(Thr79=)	NC_000015.9:g.99250933G>T	(Likely) benign	1 lab	c1b6e8ce59
15:89876827 POLG TTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGC	T	POLG	c.150_158del	NM_002693.3	NP_002684.1:p.(Gln53_Gln55del)	NC_000015.9:g.89876852_89876860del	(Likely) benign	1 lab	c22be2d403
16:730659 STUB1 C>G	16	730659	730659	C	G	STUB1	c.134C>G	NM_005861.4	NP_005852.2:p.(Ala45Gly)	NC_000016.9:g.730659C>G	VUS	1 lab	c26b36ce88
2:179479118 TTN A>AT	2	179479118	179479126	A	AT	TTN	c.49049-44dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179479126dup	(Likely) benign	1 lab	c28ea9108b
19:12996500 KLF1 A>G	19	12996500	12996500	A	G	KLF1	c.544T>C	NM_006563.5	NP_006554.1:p.(Phe182Leu)	NC_000019.9:g.12996500A>G	(Likely) benign	1 lab	c292604b72
1:52861871 ORC1 C>T	1	52861871	52861871	C	T	ORC1	c.568G>A	NM_004153.4	NP_004144.2:p.(Val190Met)	NC_000001.10:g.52861871C>T	(Likely) benign	1 lab	c2c6fda519
5:146070774 PPP2R2B C>T	5	146070774	146070774	C	T	PPP2R2B	c.364G>A	NM_181675.4	NP_858061.3:p.(Glu122Lys)	NC_000005.9:g.146070774C>T	(Likely) benign	1 lab	c2df2c9a52
13:33590904 KL T>G	13	33590904	33590904	T	G	KL	c.326T>G	NM_004795.4	NP_004786.2:p.(Leu109Arg)	NC_000013.10:g.33590904T>G	(Likely) benign	1 lab	c37ea2c7f1
11:17434231 ABCC8 G>A	11	17434231	17434231	G	A	ABCC8	c.2538C>T	NM_000352.6	NP_000343.2:p.(His846=)	NC_000011.9:g.17434231G>A	(Likely) benign	1 lab	c38e9eb206
5:112174160 APC AAGAGATCTTCAAATGATAGTTT>A	5	112174160	112174183	AAGAGATCTTCAAATGATAGTTT	A	APC	c.2871_2892del	NM_000038.6	NP_000029.2:p.(Arg958IlefsTer15)	NC_000005.9:g.112174162_112174183del	(Likely) pathogenic	1 lab	c3a85722ff
4:88983090 PKD2 C>G	4	88983090	88983090	C	G	PKD2	c.2052C>G	NM_000297.4	NP_000288.1:p.(Tyr684Ter)	NC_000004.11:g.88983090C>G	(Likely) pathogenic	1 lab	c4126c4a0e
2:198266862 SF3B1 A>T	2	198266862	198266862	A	T	SF3B1	c.2078-8T>A	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198266862A>T	(Likely) benign	1 lab	c44cfde14d
7:33427677 BBS9 G>A	7	33427677	33427677	G	A	BBS9	c.2036G>A	NM_198428.3	NP_940820.1:p.(Arg679Gln)	NC_000007.13:g.33427677G>A	VUS	1 lab	c45f150973
7:117246754 CFTR G>A	7	117246754	117246754	G	A	CFTR	c.2935G>A	NM_000492.4	NP_000483.3:p.(Asp979Asn)	NC_000007.13:g.117246754G>A	VUS	1 lab	c4657ff3ee
15:89389082 ACAN C>T	15	89389082	89389082	C	T	ACAN	c.1398C>T	NM_001369268.1	NP_001356197.1:p.(Thr466=)	NC_000015.9:g.89389082C>T	(Likely) benign	1 lab	c48edece59
5:147503518 SPINK5 C>G	5	147503518	147503518	C	G	SPINK5	c.2661C>G	NM_006846.4	NP_006837.2:p.(Ser887Arg)	NC_000005.9:g.147503518C>G	(Likely) benign	1 lab	c4986cbeba
17:42987512 GFAP G>A	17	42987512	42987512	G	A	GFAP	c.1171+471C>T	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987512G>A	(Likely) benign	1 lab	c49eefe509
16:2164211 PKD1 G>A	16	2164211	2164211	G	A	PKD1	c.2813C>T	NM_001009944.3	NP_001009944.3:p.(Thr938Met)	NC_000016.9:g.2164211G>A	(Likely) benign	1 lab	c4a72221af
9:135937443 CEL G>A	9	135937443	135937443	G	A	CEL	c.54G>A	NM_001807.6	NP_001798.3:p.(Ala18=)	NC_000009.11:g.135937443G>A	(Likely) benign	1 lab	c4f2f1484b
14:75515965 MLH3 C>T	14	75515965	75515965	C	T	MLH3	c.394G>A	NM_001040108.2	NP_001035197.1:p.(Ala132Thr)	NC_000014.8:g.75515965C>T	VUS	1 lab	c500ecf56e
13:111144569 COL4A2 G>A	13	111144569	111144569	G	A	COL4A2	c.3562+45G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111144569G>A	(Likely) benign	1 lab	c527465f49
4:73984475 ANKRD17 A>G	4	73984475	73984475	A	G	ANKRD17	c.3779T>C	NM_001286771.3	NP_001273700.1:p.(Val1260Ala)	NC_000004.11:g.73984475A>G	VUS	1 lab	c545c48ff1
17:29486062 NF1 ATCTC>A	17	29486062	29486070	ATCTC	A	NF1	c.244_247del	NM_001042492.3	NP_001035957.1:p.(Gln83Ter)	NC_000017.10:g.29486067_29486070del	(Likely) pathogenic	1 lab	c56a36cc51
15:89391256 ACAN A>G	15	89391256	89391256	A	G	ACAN	c.1719A>G	NM_001369268.1	NP_001356197.1:p.(Val573=)	NC_000015.9:g.89391256A>G	(Likely) benign	1 lab	c5db9bafbd
12:121437267 HNF1A G>A	12	121437267	121437267	G	A	HNF1A	c.1624-19G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121437267G>A	(Likely) benign	1 lab	c63e54ca32
6:51890852 PKHD1 C>G	6	51890852	51890852	C	G	PKHD1	c.3756G>C	NM_138694.4	NP_619639.3:p.(Leu1252=)	NC_000006.11:g.51890852C>G	(Likely) benign	1 lab	c643c2560b
17:63532554 AXIN2 ACGGGGGGTGGTG>A	17	63532554	63532572	ACGGGGGGTGGTG	A	AXIN2	c.2013_2024del	NM_004655.4	NP_004646.3:p.(Thr672_Arg675del)	NC_000017.10:g.63532561_63532572del	(Likely) benign	1 lab	c656daf726
X:154176094 F8 C>G	X	154176094	154176094	C	G	F8	c.1992G>C	NM_000132.4	NP_000123.1:p.(Gln664His)	NC_000023.10:g.154176094C>G	(Likely) pathogenic	1 lab	c658c631bc
18:31323136 ASXL3 T>G	18	31323136	31323136	T	G	ASXL3	c.3324T>G	NM_030632.3	NP_085135.1:p.(Ala1108=)	NC_000018.9:g.31323136T>G	(Likely) benign	1 lab	c6d7dad217
2:127808046 BIN1 T>C	2	127808046	127808046	T	C	BIN1	c.1625A>G	NM_139343.3	NP_647593.1:p.(Lys542Arg)	NC_000002.11:g.127808046T>C	(Likely) benign	1 lab	c700fdeb2d
17:8135444 CTC1 C>G	17	8135444	8135444	C	G	CTC1	c.2162G>C	NM_025099.6	NP_079375.3:p.(Gly721Ala)	NC_000017.10:g.8135444C>G	(Likely) benign	1 lab	c7057f16af
19:15292450 NOTCH3 C>G	19	15292450	15292450	C	G	NOTCH3	c.2729G>C	NM_000435.3	NP_000426.2:p.(Cys910Ser)	NC_000019.9:g.15292450C>G	(Likely) pathogenic	1 lab	c7a53636d4
1:241663898 FH T>TGAGA	1	241663898	241663902	T	TGAGA	FH	c.1237-9_1237-8insTCTC	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663901_241663902insAGAG	(Likely) benign	1 lab	c7e6f5005f
11:17424246 ABCC8 G>A	11	17424246	17424246	G	A	ABCC8	c.3612C>T	NM_000352.6	NP_000343.2:p.(Ala1204=)	NC_000011.9:g.17424246G>A	(Likely) benign	1 lab	c7fb2a8511
7:142458582 PRSS1 C>T	7	142458582	142458582	C	T	PRSS1	c.200+17C>T	NM_002769.5	NP_002760.1:p.?	NC_000007.13:g.142458582C>T	(Likely) benign	1 lab	c813843f79
9:2096774 SMARCA2 G>A	9	2096774	2096774	G	A	SMARCA2	c.2991+10G>A	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2096774G>A	(Likely) benign	1 lab	c81e955d16
11:119214628 C1QTNF5 A>G	11	119214628	119214628	A	G	C1QTNF5				NC_000011.9:g.119214628A>G	(Likely) pathogenic	1 lab	c830fa1166
3:70005712 MITF T>C	3	70005712	70005712	T	C	MITF	c.1031+31T>C	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.70005712T>C	(Likely) benign	1 lab	c83ece386c
2:162274233 TBR1 A>G	2	162274233	162274233	A	G	TBR1	c.739A>G	NM_006593.4	NP_006584.1:p.(Thr247Ala)	NC_000002.11:g.162274233A>G	VUS	1 lab	c84a975915
3:130711846 ATP2C1 G>A	3	130711846	130711846	G	A	ATP2C1	c.1890+1G>A	NM_001378687.1	NP_001365616.1:p.?	NC_000003.11:g.130711846G>A	(Likely) pathogenic	1 lab	c8a1e6a6b9
16:2149975 PKD1 C>A	16	2149975	2149975	C	A	PKD1	c.9810G>T	NM_001009944.3	NP_001009944.3:p.(Pro3270=)	NC_000016.9:g.2149975C>A	(Likely) benign	1 lab	c8dbb1d469
14:75489509 MLH3 G>A	14	75489509	75489509	G	A	MLH3	c.4090+8C>T	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75489509G>A	VUS	1 lab	c8dff44269
21:27425588 APP G>A	21	27425588	27425588	G	A	APP	c.432C>T	NM_000484.4	NP_000475.1:p.(Cys144=)	NC_000021.8:g.27425588G>A	(Likely) benign	1 lab	c8ea822ed8
9:135946531 CEL G>A	9	135946531	135946531	G	A	CEL	c.1642G>A	NM_001807.6	NP_001798.3:p.(Ala548Thr)	NC_000009.11:g.135946531G>A	(Likely) benign	1 lab	c8ffa82255
18:31320099 ASXL3 G>A	18	31320099	31320099	G	A	ASXL3	c.2731G>A	NM_030632.3	NP_085135.1:p.(Val911Met)	NC_000018.9:g.31320099G>A	(Likely) benign	1 lab	c90c711af8
7:141786097 MGAM AC>A	7	141786097	141786100	AC	A	MGAM	c.6719del	NM_001365693.1	NP_001352622.1:p.(Pro2240GlnfsTer20)	NC_000007.13:g.141786100del	(Likely) benign	1 lab	c98c3f104c
7:27239201 HOXA13 G>T	7	27239201	27239201	G	T	HOXA13	c.496C>A	NM_000522.5	NP_000513.2:p.(Pro166Thr)	NC_000007.13:g.27239201G>T	(Likely) benign	1 lab	c9bb6d3ea5
X:39932808 BCOR G>A	X	39932808	39932808	G	A	BCOR	c.1791C>T	NM_001123385.2	NP_001116857.1:p.(His597=)	NC_000023.10:g.39932808G>A	(Likely) benign	1 lab	c9ddf01d98
17:48245877 SGCA C>T	17	48245877	48245877	C	T	SGCA	c.528C>T	NM_000023.4	NP_000014.1:p.(Thr176=)	NC_000017.10:g.48245877C>T	(Likely) benign	1 lab	c9f1244dea
11:108173612 ATM C>T	11	108173612	108173612	C	T	ATM	c.5352C>T	NM_000051.4	NP_000042.3:p.(Asn1784=)	NC_000011.9:g.108173612C>T	(Likely) benign	1 lab	ca44168f90
12:133263851 POLE G>C	12	133263851	133263851	G	C	POLE	c.51C>G	NM_006231.4	NP_006222.2:p.(Gly17=)	NC_000012.11:g.133263851G>C	(Likely) benign	1 lab	ca78bfdc5d
16:4752222 ANKS3 T>C	16	4752222	4752222	T	C	ANKS3	c.890A>G	NM_133450.4	NP_597707.1:p.(Tyr297Cys)	NC_000016.9:g.4752222T>C	VUS	1 lab	ca948f1a18
9:135947020 CEL A>G	9	135947020	135947020	A	G	CEL	c.2131A>G	NM_001807.6	NP_001798.3:p.(Thr711Ala)	NC_000009.11:g.135947020A>G	(Likely) benign	1 lab	caa4e19641
10:69954175 MYPN T>C	10	69954175	69954175	T	C	MYPN	c.2981T>C	NM_032578.4	NP_115967.2:p.(Met994Thr)	NC_000010.10:g.69954175T>C	VUS	1 lab	cac7568715
6:43014022 CUL7 G>A	6	43014022	43014022	G	A	CUL7	c.2612C>T	NM_014780.5	NP_055595.2:p.(Ala871Val)	NC_000006.11:g.43014022G>A	(Likely) benign	1 lab	cb0325e92b
11:17464325 ABCC8 C>T	11	17464325	17464325	C	T	ABCC8	c.1572G>A	NM_000352.6	NP_000343.2:p.(Thr524=)	NC_000011.9:g.17464325C>T	(Likely) benign	1 lab	cb31b3db61
2:152420361 NEB C>T	2	152420361	152420361	C	T	NEB	c.18555G>A	NM_001164508.2	NP_001157980.2:p.(Lys6185=)	NC_000002.11:g.152420361C>T	(Likely) benign	1 lab	cb975a2236
3:70005639 MITF G>A	3	70005639	70005639	G	A	MITF	c.668G>A	NM_000248.3	NP_000239.1:p.(Arg223His)	NC_000003.11:g.70005639G>A	(Likely) pathogenic	1 lab	cb9f0a3e64
15:48818447 FBN1 C>A	15	48818447	48818447	C	A	FBN1	c.868G>T	NM_000138.5	NP_000129.3:p.(Asp290Tyr)	NC_000015.9:g.48818447C>A	VUS	1 lab	cbab691652
20:5948227 MCM8 G>A	20	5948227	5948227	G	A	MCM8	c.1021G>A	NM_032485.6	NP_115874.3:p.(Glu341Lys)	NC_000020.10:g.5948227G>A	(Likely) benign	1 lab	cbb649435a
21:47836466 PCNT C>T	21	47836466	47836466	C	T	PCNT	c.6634C>T	NM_006031.6	NP_006022.3:p.(Arg2212Trp)	NC_000021.8:g.47836466C>T	(Likely) benign	1 lab	cbcfa81eb0
15:100589135 ADAMTS17 C>T	15	100589135	100589135	C	T	ADAMTS17	c.2518G>A	NM_139057.4	NP_620688.2:p.(Asp840Asn)	NC_000015.9:g.100589135C>T	(Likely) benign	1 lab	cbd0321ee7
1:17355205 SDHB T>C	1	17355205	17355205	T	C	SDHB	c.313A>G	NM_003000.3	NP_002991.2:p.(Ile105Val)	NC_000001.10:g.17355205T>C	VUS	1 lab	cbd88dbcd8
1:226924210 ITPKB C>T	1	226924210	226924210	C	T	ITPKB	c.950G>A	NM_002221.4	NP_002212.3:p.(Arg317His)	NC_000001.10:g.226924210C>T	VUS	1 lab	cc44da043d
3:37067224 MLH1 TATGCCCACCAG>T	3	37067224	37067238	TATGCCCACCAG	T	MLH1	c.1139_1149del	NM_000249.4	NP_000240.1:p.(Ala380GlyfsTer11)	NC_000003.11:g.37067228_37067238del	(Likely) pathogenic	1 lab	ccaacc92f4
9:135946690 CEL G>C	9	135946690	135946690	G	C	CEL	c.1801G>C	NM_001807.6	NP_001798.3:p.(Ala601Pro)	NC_000009.11:g.135946690G>C	(Likely) benign	1 lab	ccec11d88a
12:112915779 PTPN11 G>T	12	112915779	112915779	G	T	PTPN11	c.1052G>T	NM_002834.5	NP_002825.3:p.(Arg351Leu)	NC_000012.11:g.112915779G>T	VUS	1 lab	cd0bfd7547
11:124791312 HEPACAM G>T	11	124791312	124791312	G	T	HEPACAM	c.973C>A	NM_152722.5	NP_689935.2:p.(Pro325Thr)	NC_000011.9:g.124791312G>T	VUS	1 lab	cd2b7ebad2
7:128481628 FLNC C>A	7	128481628	128481628	C	A	FLNC	c.2121+7C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481628C>A	VUS	1 lab	cd3a6fd808
20:31393148 DNMT3B G>A	20	31393148	31393148	G	A	DNMT3B	c.2236G>A	NM_006892.4	NP_008823.1:p.(Val746Met)	NC_000020.10:g.31393148G>A	VUS	1 lab	cd548d28b3
14:24709641 TINF2 CA>C	14	24709641	24709642	CA	C	TINF2	c.1044del	NM_001099274.3	NP_001092744.1:p.(Ala349ProfsTer16)	NC_000014.8:g.24709642del	(Likely) pathogenic	1 lab	cd70b4ebe7
7:6036995 PMS2 G>A	7	6036995	6036995	G	A	PMS2	c.765C>T	NM_000535.7	NP_000526.2:p.(Tyr255=)	NC_000007.13:g.6036995G>A	(Likely) benign	1 lab	cd7dd6f65b
17:78184578 SGSH C>A	17	78184578	78184578	C	A	SGSH	c.1182G>T	NM_000199.5	NP_000190.1:p.(Met394Ile)	NC_000017.10:g.78184578C>A	(Likely) benign	1 lab	cda0829055
12:6085414 VWF G>A	12	6085414	6085414	G	A	VWF	c.7300C>T	NM_000552.5	NP_000543.3:p.(Arg2434Ter)	NC_000012.11:g.6085414G>A	(Likely) pathogenic	1 lab	cddb52962b
9:135946990 CEL CCCCCCGTGACCCCCACGGGTGACTCCGAGACCG>C	9	135946990	135947031	CCCCCCGTGACCCCCACGGGTGACTCCGAGACCG	C	CEL	c.2110_2142del	NM_001807.6	NP_001798.3:p.(Thr704_Val714del)	NC_000009.11:g.135946999_135947031del	(Likely) benign	1 lab	cdde06e6bd
1:36938235 CSF3R G>A	1	36938235	36938235	G	A	CSF3R	c.726C>T	NM_000760.4	NP_000751.1:p.(Ala242=)	NC_000001.10:g.36938235G>A	(Likely) benign	1 lab	cdf5facf8c
2:215617173 BARD1 C>A	2	215617173	215617173	C	A	BARD1	c.1675G>T	NM_000465.4	NP_000456.2:p.(Val559Leu)	NC_000002.11:g.215617173C>A	(Likely) benign	1 lab	ce26ba933c
7:98507848 TRRAP C>A	7	98507848	98507848	C	A	TRRAP	c.1520C>A	NM_001375524.1	NP_001362453.1:p.(Pro507His)	NC_000007.13:g.98507848C>A	VUS	1 lab	ce3041d397
17:29667749 NF1 A>T	17	29667749	29667749	A	T	NF1	c.7062+86A>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29667749A>T	VUS	1 lab	ce66f70cab
7:24758748 GSDME ATCG>A	7	24758748	24758755	ATCG	A	GSDME	c.491_493del	NM_001127453.2	NP_001120925.1:p.(Thr164del)	NC_000007.13:g.24758753_24758755del	(Likely) benign	1 lab	ce78ab1b45
9:14846050 FREM1 C>T	9	14846050	14846050	C	T	FREM1	c.1301G>A	NM_001379081.2	NP_001366010.1:p.(Trp434Ter)	NC_000009.11:g.14846050C>T	VUS	1 lab	ce90384e21
1:152283306 FLG A>T	1	152283306	152283306	A	T	FLG	c.4056T>A	NM_002016.2	NP_002007.1:p.(Ser1352Arg)	NC_000001.10:g.152283306A>T	VUS	1 lab	cf0d9adefd
10:16882518 CUBN T>C	10	16882518	16882518	T	C	CUBN	c.9843A>G	NM_001081.4	NP_001072.2:p.(Thr3281=)	NC_000010.10:g.16882518T>C	(Likely) benign	1 lab	cf9d919580
6:157522360 ARID1B G>A	6	157522360	157522360	G	A	ARID1B	c.5001G>A	NM_001374828.1	NP_001361757.1:p.(Pro1667=)	NC_000006.11:g.157522360G>A	(Likely) benign	1 lab	cfc8c643f7
21:47552006 COL6A2 G>A	21	47552006	47552006	G	A	COL6A2	c.2600G>A	NM_001849.4	NP_001840.3:p.(Arg867Gln)	NC_000021.8:g.47552006G>A	VUS	1 lab	cfe2dcc82c
1:100343254 AGL G>A	1	100343254	100343254	G	A	AGL	c.1481G>A	NM_000642.3	NP_000633.2:p.(Arg494His)	NC_000001.10:g.100343254G>A	(Likely) benign	1 lab	d0286bc202
14:77493665 IRF2BPL G>GGCA	14	77493665	77493668	G	GGCA	IRF2BPL	c.470_471insTGC	NM_024496.4	NP_078772.1:p.(Ala164dup)	NC_000014.8:g.77493667_77493668insAGC	VUS	1 lab	d09d0df0b6
10:124273765 HTRA1 G>A	10	124273765	124273765	G	A	HTRA1	c.1333G>A	NM_002775.5	NP_002766.1:p.(Ala445Thr)	NC_000010.10:g.124273765G>A	VUS	1 lab	d0e5d9b301
22:21336678 LZTR1 CA>C	22	21336678	21336679	CA	C	LZTR1	c.19del	NM_006767.3	NP_006758.2:p.(Thr7ArgfsTer18)	NC_000022.10:g.21336679del	(Likely) pathogenic	1 lab	d106359579
9:133760617 ABL1 C>T	9	133760617	133760617	C	T	ABL1	c.2940C>T	NM_005157.6	NP_005148.2:p.(Pro980=)	NC_000009.11:g.133760617C>T	(Likely) benign	1 lab	d130a563b2
2:179442471 TTN A>C	2	179442471	179442471	A	C	TTN	c.68682T>G	NM_001267550.2	NP_001254479.2:p.(Val22894=)	NC_000002.11:g.179442471A>C	(Likely) benign	1 lab	d134a6b205
15:99250921 IGF1R C>T	15	99250921	99250921	C	T	IGF1R	c.225C>T	NM_000875.5	NP_000866.1:p.(Phe75=)	NC_000015.9:g.99250921C>T	(Likely) benign	1 lab	d13d6f0dd4
9:35806248 NPR2 G>A	9	35806248	35806248	G	A	NPR2	c.2372+18G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35806248G>A	(Likely) benign	1 lab	d190b9ee8c
6:135754325 AHI1 C>T	6	135754325	135754325	C	T	AHI1	c.2106G>A	NM_001134831.2	NP_001128303.1:p.(Thr702=)	NC_000006.11:g.135754325C>T	VUS	1 lab	d1ccc3217b
1:3321395 PRDM16 G>A	1	3321395	3321395	G	A	PRDM16	c.977G>A	NM_022114.4	NP_071397.3:p.(Arg326His)	NC_000001.10:g.3321395G>A	VUS	1 lab	d2075a4b48
8:42693417 THAP1 G>A	8	42693417	42693417	G	A	THAP1	c.134C>T	NM_199003.2	NP_945354.1:p.(Pro45Leu)	NC_000008.10:g.42693417G>A	VUS	1 lab	d2414a888c
3:10091153 FANCD2 C>T	3	10091153	10091153	C	T	FANCD2	c.1509C>T	NM_001018115.3	NP_001018125.1:p.(Asn503=)	NC_000003.11:g.10091153C>T	(Likely) benign	1 lab	d24c28e3f9
7:45115555 CCM2 C>T	7	45115555	45115555	C	T	CCM2	c.1234C>T	NM_031443.4	NP_113631.1:p.(Arg412Trp)	NC_000007.13:g.45115555C>T	(Likely) benign	1 lab	d25fae0dac
17:40379585 STAT5B G>A	17	40379585	40379585	G	A	STAT5B	c.247C>T	NM_012448.4	NP_036580.2:p.(Leu83=)	NC_000017.10:g.40379585G>A	(Likely) benign	1 lab	d267cdf7c5
9:135946483 CEL C>T	9	135946483	135946483	C	T	CEL	c.1594C>T	NM_001807.6	NP_001798.3:p.(Arg532Trp)	NC_000009.11:g.135946483C>T	(Likely) benign	1 lab	d26e43a16b
9:135942455 CEL G>T	9	135942455	135942455	G	T	CEL	c.778-20G>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942455G>T	(Likely) benign	1 lab	d27001f6b5
9:135946921 CEL CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG>C	9	135946921	135946985	CCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG	C	CEL	c.2064_2096del	NM_001807.6	NP_001798.3:p.(Pro693_Val703del)	NC_000009.11:g.135946953_135946985del	(Likely) benign	1 lab	d28f8bb630
12:121426748 HNF1A C>A	12	121426748	121426748	C	A	HNF1A	c.439C>A	NM_000545.8	NP_000536.6:p.(His147Asn)	NC_000012.11:g.121426748C>A	VUS	1 lab	d29c24309d
8:65517310 CYP7B1 G>A	8	65517310	65517310	G	A	CYP7B1				NC_000008.10:g.65517310G>A	(Likely) pathogenic	1 lab	d29e3f8d2a
19:1055907 ABCA7 CT>C	19	1055907	1055908	CT	C	ABCA7	c.4208del	NM_019112.4	NP_061985.2:p.(Leu1403ArgfsTer7)	NC_000019.9:g.1055908del	VUS	1 lab	d2e6776ff9
5:131930642 RAD50 C>G	5	131930642	131930642	C	G	RAD50				NC_000005.9:g.131930642C>G	(Likely) pathogenic	1 lab	d34063fab7
9:140357942 PNPLA7 C>T	9	140357942	140357942	C	T	PNPLA7	c.3268G>A	NM_001098537.3	NP_001092007.2:p.(Gly1090Ser)	NC_000009.11:g.140357942C>T	VUS	1 lab	d344e75171
2:179500239 TTN T>C	2	179500239	179500239	T	C	TTN	c.36889A>G	NM_001256850.1	NP_001243779.1:p.(Met12297Val)	NC_000002.11:g.179500239T>C	VUS	1 lab	d3696bf6ec
3:125874339 ALDH1L1 G>C	3	125874339	125874339	G	C	ALDH1L1	c.536C>G	NM_012190.4	NP_036322.2:p.(Ala179Gly)	NC_000003.11:g.125874339G>C	VUS	1 lab	d3975bcd22
2:216237037 FN1 A>T	2	216237037	216237037	A	T	FN1	c.6309T>A	NM_212482.4	NP_997647.2:p.(Asp2103Glu)	NC_000002.11:g.216237037A>T	VUS	1 lab	d3afec045d
17:63534303 AXIN2 A>C	17	63534303	63534303	A	C	AXIN2	c.1200+18T>G	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63534303A>C	(Likely) benign	1 lab	d3bced89a1
17:48649925 CACNA1G G>T	17	48649925	48649925	G	T	CACNA1G	c.757G>T	NM_018896.5	NP_061496.2:p.(Val253Leu)	NC_000017.10:g.48649925G>T	VUS	1 lab	d3f0a7a881
14:99976641 CCNK C>T	14	99976641	99976641	C	T	CCNK	c.1265C>T	NM_001099402.2	NP_001092872.1:p.(Pro422Leu)	NC_000014.8:g.99976641C>T	(Likely) benign	1 lab	d421a81d67
16:67693137 ACD T>C	16	67693137	67693137	T	C	ACD	c.488A>G	NM_001082486.2	NP_001075955.2:p.(Asn163Ser)	NC_000016.9:g.67693137T>C	VUS	1 lab	d43fbe617d
6:117243185 RFX6 T>C	6	117243185	117243185	T	C	RFX6	c.1328-20T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243185T>C	(Likely) benign	1 lab	d485b428cd
16:3819346 CREBBP C>A	16	3819346	3819346	C	A	CREBBP	c.2889G>T	NM_004380.3	NP_004371.2:p.(Gln963His)	NC_000016.9:g.3819346C>A	VUS	1 lab	d4ad0a7e48
10:43622156 RET A>G	10	43622156	43622156	A	G	RET	c.3173A>G	NM_020975.6	NP_066124.1:p.(Glu1058Gly)	NC_000010.10:g.43622156A>G	VUS	1 lab	d4ce508301
18:19751956 GATA6 C>G	18	19751956	19751956	C	G	GATA6	c.851C>G	NM_005257.6	NP_005248.2:p.(Ala284Gly)	NC_000018.9:g.19751956C>G	(Likely) benign	1 lab	d4e5b93bc2
2:99012948 CNGA3 C>T	2	99012948	99012948	C	T	CNGA3	c.1315C>T	NM_001298.2	NP_001289.1:p.(Arg439Trp)	NC_000002.11:g.99012948C>T	(Likely) pathogenic	1 lab	d4ebd3ca86
15:90213343 PLIN1 C>A	15	90213343	90213343	C	A	PLIN1	c.466G>T	NM_002666.5	NP_002657.3:p.(Val156Leu)	NC_000015.9:g.90213343C>A	(Likely) benign	1 lab	d50aed7725
5:42713522 GHR G>A	5	42713522	42713522	G	A	GHR	c.785-9G>A	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42713522G>A	(Likely) benign	1 lab	d523553202
7:44198660 GCK T>A	7	44198660	44198660	T	A	GCK	c.46-5598A>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44198660T>A	(Likely) benign	1 lab	d5fb340963
13:25487096 CPAP T>C	13	25487096	25487096	T	C	CPAP	c.68A>G	NM_018451.5	NP_060921.3:p.(Asn23Ser)	NC_000013.10:g.25487096T>C	(Likely) benign	1 lab	d63f9ccc18
16:2144182 PKD1 G>A	16	2144182	2144182	G	A	PKD1	c.10529C>T	NM_001009944.3	NP_001009944.3:p.(Thr3510Met)	NC_000016.9:g.2144182G>A	(Likely) benign	1 lab	d6c24ef32f
11:108143354 ATM T>C	11	108143354	108143354	T	C	ATM	c.3153+20T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143354T>C	(Likely) benign	1 lab	d704828d57
11:34991719 PDHX C>T	11	34991719	34991719	C	T	PDHX	c.850C>T	NM_003477.3	NP_003468.2:p.(Arg284Ter)	NC_000011.9:g.34991719C>T	(Likely) pathogenic	1 lab	d7418130d1
17:61995129 GH1 C>T	17	61995129	61995129	C	T	GH1	c.447G>A	NM_000515.5	NP_000506.2:p.(Thr149=)	NC_000017.10:g.61995129C>T	(Likely) benign	1 lab	d759a5d6df
17:17119711 FLCN G>C	17	17119711	17119711	G	C	FLCN	c.1283C>G	NM_144997.7	NP_659434.2:p.(Pro428Arg)	NC_000017.10:g.17119711G>C	(Likely) benign	1 lab	d77a834f5b
7:42004549 GLI3 C>A	7	42004549	42004549	C	A	GLI3	c.4122G>T	NM_000168.6	NP_000159.3:p.(Pro1374=)	NC_000007.13:g.42004549C>A	VUS	1 lab	d7bb24460f
17:29556298 NF1 A>G	17	29556298	29556298	A	G	NF1	c.2665A>G	NM_001042492.3	NP_001035957.1:p.(Thr889Ala)	NC_000017.10:g.29556298A>G	VUS	1 lab	d7cfb6589c
8:144995977 PLEC C>T	8	144995977	144995977	C	T	PLEC	c.8012G>A	NM_201384.3	NP_958786.1:p.(Arg2671Gln)	NC_000008.10:g.144995977C>T	(Likely) benign	1 lab	d80d15ac1e
17:48677083 CACNA1G C>T	17	48677083	48677083	C	T	CACNA1G	c.3553C>T	NM_018896.5	NP_061496.2:p.(Arg1185Cys)	NC_000017.10:g.48677083C>T	VUS	1 lab	d84da1b562
9:140710462 EHMT1 G>A	9	140710462	140710462	G	A	EHMT1	c.3322G>A	NM_024757.5	NP_079033.4:p.(Ala1108Thr)	NC_000009.11:g.140710462G>A	(Likely) benign	1 lab	d86aba9ebb
3:38921440 SCN11A C>A	3	38921440	38921440	C	A	SCN11A	c.3393+1G>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38921440C>A	VUS	1 lab	d8800574e2
11:68115704 LRP5 G>A	11	68115704	68115704	G	A	LRP5	c.481G>A	NM_002335.4	NP_002326.2:p.(Ala161Thr)	NC_000011.9:g.68115704G>A	VUS	1 lab	d8a03ade7d
17:7228799 NEURL4 C>T	17	7228799	7228799	C	T	NEURL4	c.1367-7G>A	NM_032442.3	NP_115818.2:p.?	NC_000017.10:g.7228799C>T	VUS	1 lab	d8f1a677a9
4:111554101 PITX2 G>C	4	111554101	111554101	G	C	PITX2	c.46+8C>G	NM_001204397.1	NP_001191326.1:p.?	NC_000004.11:g.111554101G>C	(Likely) benign	1 lab	d92f70dfb8
17:59886139 BRIP1 G>A	17	59886139	59886139	G	A	BRIP1	c.628-21C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59886139G>A	(Likely) benign	1 lab	d9598b42e7
20:5967972 MCM8 C>T	20	5967972	5967972	C	T	MCM8	c.2208C>T	NM_032485.6	NP_115874.3:p.(Asp736=)	NC_000020.10:g.5967972C>T	(Likely) benign	1 lab	d9639f6b5f
16:30750924 SRCAP G>A	16	30750924	30750924	G	A	SRCAP	c.9563G>A	NM_006662.3	NP_006653.2:p.(Arg3188His)	NC_000016.9:g.30750924G>A	(Likely) benign	1 lab	d972a286e4
9:124088908 GSN C>G	9	124088908	124088908	C	G	GSN	c.1535C>G	NM_198252.3	NP_937895.1:p.(Thr512Ser)	NC_000009.11:g.124088908C>G	(Likely) benign	1 lab	d9bf14c0e5
3:71026998 FOXP1 G>T	3	71026998	71026998	G	T	FOXP1	c.1329C>A	NM_001349338.3	NP_001336267.1:p.(Tyr443Ter)	NC_000003.11:g.71026998G>T	(Likely) pathogenic	1 lab	da1bc57734
6:116446633 COL10A1 A>C	6	116446633	116446633	A	C	COL10A1	c.23T>G	NM_000493.4	NP_000484.2:p.(Leu8Trp)	NC_000006.11:g.116446633A>C	(Likely) benign	1 lab	da345d67ea
15:90209135 PLIN1 G>A	15	90209135	90209135	G	A	PLIN1	c.1248C>T	NM_002666.5	NP_002657.3:p.(Phe416=)	NC_000015.9:g.90209135G>A	(Likely) benign	1 lab	daabd80f26
19:48807327 ODAD1 C>A	19	48807327	48807327	C	A	ODAD1	c.736G>T	NM_001364171.2	NP_001351100.1:p.(Glu246Ter)	NC_000019.9:g.48807327C>A	VUS	1 lab	dac745b3b7
12:112654945 HECTD4 T>C	12	112654945	112654945	T	C	HECTD4	c.7129A>G	NM_001388303.1	NP_001375232.1:p.(Met2377Val)	NC_000012.11:g.112654945T>C	VUS	1 lab	dae3e5366d
14:21899678 CHD8 G>C	14	21899678	21899678	G	C	CHD8	c.125C>G	NM_001170629.2	NP_001164100.1:p.(Ser42Cys)	NC_000014.8:g.21899678G>C	VUS	1 lab	daf5c269e6
9:75404150 TMC1 T>A	9	75404150	75404150	T	A	TMC1	c.1141T>A	NM_138691.2	NP_619636.2:p.(Tyr381Asn)	NC_000009.11:g.75404150T>A	VUS	1 lab	db1279f360
20:31384657 DNMT3B G>A	20	31384657	31384657	G	A	DNMT3B	c.1359G>A	NM_006892.4	NP_008823.1:p.(Gly453=)	NC_000020.10:g.31384657G>A	(Likely) benign	1 lab	db4be287fc
4:786284 CPLX1 GCGCTCCTCCTCCGCCTGGCGCAGCGCCTCCTGC>G	4	786284	786329	GCGCTCCTCCTCCGCCTGGCGCAGCGCCTCCTGC	G	CPLX1	c.111_143del	NM_006651.4	NP_006642.1:p.(Gln38_Arg48del)	NC_000004.11:g.786297_786329del	VUS	1 lab	db635e609b
15:65369947 KBTBD13 G>A	15	65369947	65369947	G	A	KBTBD13	c.794G>A	NM_001101362.3	NP_001094832.1:p.(Gly265Asp)	NC_000015.9:g.65369947G>A	(Likely) benign	1 lab	db7c5d899a
19:50911960 POLD1 A>T	19	50911960	50911960	A	T	POLD1	c.1776-82A>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50911960A>T	(Likely) benign	1 lab	dba43f23b6
2:166606326 GALNT3 C>T	2	166606326	166606326	C	T	GALNT3	c.1705G>A	NM_004482.4	NP_004473.2:p.(Val569Ile)	NC_000002.11:g.166606326C>T	(Likely) benign	1 lab	dc36f64942
19:42492732 ATP1A3 G>A	19	42492732	42492732	G	A	ATP1A3	c.7-18C>T	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492732G>A	VUS	1 lab	dc4dd2455f
22:36691691 MYH9 T>C	22	36691691	36691691	T	C	MYH9	c.3345A>G	NM_002473.6	NP_002464.1:p.(Glu1115=)	NC_000022.10:g.36691691T>C	(Likely) benign	1 lab	dc605a582d
5:112177177 APC C>T	5	112177177	112177177	C	T	APC	c.5886C>T	NM_000038.6	NP_000029.2:p.(Cys1962=)	NC_000005.9:g.112177177C>T	(Likely) benign	1 lab	dc91b898cf
1:36937106 CSF3R C>T	1	36937106	36937106	C	T	CSF3R	c.1213G>A	NM_000760.4	NP_000751.1:p.(Glu405Lys)	NC_000001.10:g.36937106C>T	(Likely) benign	1 lab	dcaca4dc23
15:43022776 CDAN1 C>T	15	43022776	43022776	C	T	CDAN1	c.2174+20G>A	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43022776C>T	(Likely) benign	1 lab	dd2cba42d3
13:32953930 BRCA2 G>A	13	32953930	32953930	G	A	BRCA2	c.8997G>A	NM_000059.3	NP_000050.2:p.(Leu2999=)	NC_000013.10:g.32953930G>A	(Likely) benign	1 lab	dd4f795502
7:2565133 LFNG G>A	7	2565133	2565133	G	A	LFNG	c.667G>A	NM_001040167.2	NP_001035257.1:p.(Val223Ile)	NC_000007.13:g.2565133G>A	(Likely) benign	1 lab	dd595e2954
3:58129295 FLNB G>A	3	58129295	58129295	G	A	FLNB	c.5380G>A	NM_001457.4	NP_001448.2:p.(Gly1794Arg)	NC_000003.11:g.58129295G>A	VUS	1 lab	dda35720e4
X:31496447 DMD G>A	X	31496447	31496447	G	A	DMD	c.8713C>T	NM_004006.3	NP_003997.2:p.(Arg2905Ter)	NC_000023.10:g.31496447G>A	(Likely) pathogenic	1 lab	ddaa9748fd
20:31387942 DNMT3B C>T	20	31387942	31387942	C	T	DNMT3B	c.1760-17C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31387942C>T	(Likely) benign	1 lab	ddc9206802
15:89398768 ACAN C>T	15	89398768	89398768	C	T	ACAN	c.2952C>T	NM_001369268.1	NP_001356197.1:p.(Thr984=)	NC_000015.9:g.89398768C>T	VUS	1 lab	de1700b5ab
20:43034783 HNF4A C>T	20	43034783	43034783	C	T	HNF4A	c.201C>T	NM_000457.5	NP_000448.3:p.(Ala67=)	NC_000020.10:g.43034783C>T	(Likely) benign	1 lab	de194ca6e2
2:238270378 COL6A3 G>A	2	238270378	238270378	G	A	COL6A3	c.6156+4C>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238270378G>A	(Likely) benign	1 lab	de4b0adb6e
10:50740950 ERCC6 G>A	10	50740950	50740950	G	A	ERCC6	c.61C>T	NM_000124.4	NP_000115.1:p.(Gln21Ter)	NC_000010.10:g.50740950G>A	(Likely) pathogenic	1 lab	de7547db5d
15:89395120 ACAN G>A	15	89395120	89395120	G	A	ACAN	c.2122G>A	NM_001369268.1	NP_001356197.1:p.(Gly708Ser)	NC_000015.9:g.89395120G>A	(Likely) benign	1 lab	de7a53a7ae
11:17427029 ABCC8 G>A	11	17427029	17427029	G	A	ABCC8	c.3399+12C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17427029G>A	(Likely) benign	1 lab	de969f1b9c
6:42946679 PEX6 C>T	6	42946679	42946679	C	T	PEX6	c.210G>A	NM_000287.4	NP_000278.3:p.(Gly70=)	NC_000006.11:g.42946679C>T	(Likely) benign	1 lab	def4b15783
6:117243195 RFX6 T>C	6	117243195	117243195	T	C	RFX6	c.1328-10T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117243195T>C	(Likely) benign	1 lab	def8d91322
11:2182139 INS T>C	11	2182139	2182139	T	C	INS	c.63A>G	NM_000207.3	NP_000198.1:p.(Pro21=)	NC_000011.9:g.2182139T>C	(Likely) benign	1 lab	df79789749
20:45905267 ZMYND8 G>A	20	45905267	45905267	G	A	ZMYND8	c.1271C>T	NM_001281775.3	NP_001268704.1:p.(Thr424Met)	NC_000020.10:g.45905267G>A	VUS	1 lab	e002bc8d4d
17:61995170 GH1 C>T	17	61995170	61995170	C	T	GH1	c.406G>A	NM_000515.5	NP_000506.2:p.(Val136Ile)	NC_000017.10:g.61995170C>T	(Likely) benign	1 lab	e023cdc5dd
10:89622078 KLLN G>C	10	89622078	89622078	G	C	KLLN	c.167C>G	NM_001126049.2	NP_001119521.1:p.(Thr56Arg)	NC_000010.10:g.89622078G>C	VUS	1 lab	e024b9d86e
14:95566103 DICER1 ACACAC>A	14	95566103	95566108	ACACAC	A	DICER1	c.4206+9_4206+13del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566104_95566108del	(Likely) benign	1 lab	e06efc3008
3:111296349 CD96 G>A	3	111296349	111296349	G	A	CD96	c.544-1525G>A	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111296349G>A	VUS	1 lab	e06f210df9
19:7152717 INSR G>T	19	7152717	7152717	G	T	INSR	c.2231+20C>A	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7152717G>T	(Likely) benign	1 lab	e0bcf7e0dd
X:47705674 ZNF81 C>T	X	47705674	47705674	C	T	ZNF81	c.8C>T	NM_007137.5	NP_009068.2:p.(Ala3Val)	NC_000023.10:g.47705674C>T	(Likely) benign	1 lab	e19722b8b1
6:43006408 CUL7 A>G	6	43006408	43006408	A	G	CUL7	c.4463T>C	NM_014780.5	NP_055595.2:p.(Leu1488Pro)	NC_000006.11:g.43006408A>G	(Likely) benign	1 lab	e1ca5d7513
9:2039827 SMARCA2 G>A	9	2039827	2039827	G	A	SMARCA2	c.717G>A	NM_003070.5	NP_003061.3:p.(Pro239=)	NC_000009.11:g.2039827G>A	(Likely) benign	1 lab	e2a4551b9b
22:50964907 TYMP TGCGG>T	22	50964907	50964916	TGCGG	T	TYMP	c.929-6_929-3del	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50964913_50964916del	(Likely) benign	1 lab	e1e1563e61
7:66453460 SBDS G>A	7	66453460	66453460	G	A	SBDS	c.651C>T	NM_016038.4	NP_057122.2:p.(Phe217=)	NC_000007.13:g.66453460G>A	(Likely) benign	1 lab	e24ac838e4
X:39932949 BCOR G>A	X	39932949	39932949	G	A	BCOR	c.1650C>T	NM_001123385.2	NP_001116857.1:p.(Thr550=)	NC_000023.10:g.39932949G>A	(Likely) benign	1 lab	e2736d4f7a
22:24717548 SPECC1L A>T	22	24717548	24717548	A	T	SPECC1L	c.600A>T	NM_015330.6	NP_056145.5:p.(Leu200Phe)	NC_000022.10:g.24717548A>T	(Likely) benign	1 lab	e2e233e111
5:79950727 DHFR G>GCAGCGCCCC	5	79950727	79950749	G	GCAGCGCCCC	DHFR	c.-428_-420dup	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950741_79950749dup	(Likely) benign	1 lab	e2ee120823
19:46915469 CCDC8 T>A	19	46915469	46915469	T	A	CCDC8	c.599A>T	NM_032040.5	NP_114429.2:p.(Gln200Leu)	NC_000019.9:g.46915469T>A	(Likely) benign	1 lab	e2f989ba1d
11:17483243 ABCC8 T>G	11	17483243	17483243	T	G	ABCC8	c.709A>C	NM_000352.6	NP_000343.2:p.(Ile237Leu)	NC_000011.9:g.17483243T>G	VUS	1 lab	e301f3d80e
10:124268209 HTRA1 CAGCTGG>C	10	124268209	124268216	CAGCTGG	C	HTRA1	c.1045_1050del	NM_002775.5	NP_002766.1:p.(Ala349_Gly350del)	NC_000010.10:g.124268211_124268216del	VUS	1 lab	e308621717
6:129636771 LAMA2 A>G	6	129636771	129636771	A	G	LAMA2	c.3706A>G	NM_000426.4	NP_000417.3:p.(Lys1236Glu)	NC_000006.11:g.129636771A>G	VUS	1 lab	e3090b86f9
6:119136971 MCM9 T>G	6	119136971	119136971	T	G	MCM9	c.2448A>C	NM_017696.3	NP_060166.2:p.(Glu816Asp)	NC_000006.11:g.119136971T>G	(Likely) benign	1 lab	e31f13e253
19:39994732 DLL3 G>A	19	39994732	39994732	G	A	DLL3	c.674G>A	NM_203486.3	NP_982353.1:p.(Ser225Asn)	NC_000019.9:g.39994732G>A	(Likely) benign	1 lab	e32957642f
8:21847853 XPO7 A>G	8	21847853	21847853	A	G	XPO7	c.1869-2A>G	NM_015024.5	NP_055839.3:p.?	NC_000008.10:g.21847853A>G	(Likely) pathogenic	1 lab	e3cb7c2374
2:215634046 BARD1 TG>T	2	215634046	215634047	TG	T	BARD1	c.1315-11del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215634047del	(Likely) benign	1 lab	e3eddae1fa
2:152589615 NEB G>GT	2	152589615	152589625	G	GT	NEB	c.36+19dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152589625dup	(Likely) benign	1 lab	e40a818e7f
13:28498711 PDX1 C>T	13	28498711	28498711	C	T	PDX1	c.725C>T	NM_000209.4	NP_000200.1:p.(Pro242Leu)	NC_000013.10:g.28498711C>T	(Likely) benign	1 lab	e426cfaff4
8:1719290 CLN8 C>G	8	1719290	1719290	C	G	CLN8	c.70C>G	NM_018941.4	NP_061764.2:p.(Arg24Gly)	NC_000008.10:g.1719290C>G	(Likely) pathogenic	1 lab	e449e5d80f
17:63532470 AXIN2 C>T	17	63532470	63532470	C	T	AXIN2	c.2109G>A	NM_004655.4	NP_004646.3:p.(Arg703=)	NC_000017.10:g.63532470C>T	(Likely) benign	1 lab	e45134ba4b
13:110830612 COL4A1 A>G	13	110830612	110830612	A	G	COL4A1	c.2459-34T>C	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110830612A>G	(Likely) benign	1 lab	e4b37150c6
7:31014599 GHRHR G>A	7	31014599	31014599	G	A	GHRHR	c.826G>A	NM_000823.4	NP_000814.2:p.(Asp276Asn)	NC_000007.13:g.31014599G>A	(Likely) benign	1 lab	e4bc9cb4e8
X:149680832 MAMLD1 C>T	X	149680832	149680832	C	T	MAMLD1	c.*603C>T	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680832C>T	(Likely) benign	1 lab	e4c9df3699
12:56096884 ITGA7 C>A	12	56096884	56096884	C	A	ITGA7	c.285G>T	NM_002206.3	NP_002197.2:p.(Pro95=)	NC_000012.11:g.56096884C>A	(Likely) benign	1 lab	e572863066
12:121416847 HNF1A C>T	12	121416847	121416847	C	T	HNF1A	c.276C>T	NM_000545.8	NP_000536.6:p.(Leu92=)	NC_000012.11:g.121416847C>T	(Likely) benign	1 lab	e59dd8ef64
15:80696885 ARNT2 C>T	15	80696885	80696885	C	T	ARNT2	c.28C>T	NM_014862.4	NP_055677.3:p.(Pro10Ser)	NC_000015.9:g.80696885C>T	VUS	1 lab	e5e0615c95
7:47874626 PKD1L1 C>A	7	47874626	47874626	C	A	PKD1L1	c.6066G>T	NM_138295.5	NP_612152.1:p.(Gly2022=)	NC_000007.13:g.47874626C>A	(Likely) benign	1 lab	e5f140fc0a
6:15524698 DTNBP1 T>C	6	15524698	15524698	T	C	DTNBP1	c.811+59A>G	NM_032122.5	NP_115498.2:p.?	NC_000006.11:g.15524698T>C	(Likely) benign	1 lab	e62568ee35
2:190436467 SLC40A1 GCAA>G	2	190436467	190436479	GCAA	G	SLC40A1	c.485_487del	NM_014585.5	NP_055400.1:p.(Val162del)	NC_000002.11:g.190436477_190436479del	(Likely) pathogenic	1 lab	e62e45c3a7
5:149751642 TCOF1 C>T	5	149751642	149751642	C	T	TCOF1	c.713C>T	NM_001371623.1	NP_001358552.1:p.(Ala238Val)	NC_000005.9:g.149751642C>T	(Likely) benign	1 lab	e653938566
16:30732558 SRCAP C>A	16	30732558	30732558	C	A	SRCAP	c.3302C>A	NM_006662.3	NP_006653.2:p.(Thr1101Lys)	NC_000016.9:g.30732558C>A	(Likely) benign	1 lab	e67ca2878e
1:26142181 SELENON G>A	1	26142181	26142181	G	A	SELENON	c.1643G>A	NM_206926.2	NP_996809.1:p.(Arg548Gln)	NC_000001.10:g.26142181G>A	(Likely) benign	1 lab	e6caff74e0
7:6045578 PMS2 GCTTAGACTCAGTACCACCTGCCCAGAGCAA>G	7	6045578	6045608	GCTTAGACTCAGTACCACCTGCCCAGAGCAA	G	PMS2	c.78_107del	NM_000535.7	NP_000526.2:p.(Cys27_Ser36del)	NC_000007.13:g.6045579_6045608del	VUS	1 lab	e6cb58e98c
15:89386889 ACAN G>A	15	89386889	89386889	G	A	ACAN	c.1051+10G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89386889G>A	(Likely) benign	1 lab	e7138d32f7
17:3560023 CTNS C>T	17	3560023	3560023	C	T	CTNS	c.615C>T	NM_004937.3	NP_004928.2:p.(Asp205=)	NC_000017.10:g.3560023C>T	(Likely) benign	1 lab	e767bccfc9
19:46914890 CCDC8 G>A	19	46914890	46914890	G	A	CCDC8	c.1178C>T	NM_032040.5	NP_114429.2:p.(Ala393Val)	NC_000019.9:g.46914890G>A	(Likely) benign	1 lab	e78fba92c1
1:173744811 KLHL20 A>G	1	173744811	173744811	A	G	KLHL20	c.1468A>G	NM_014458.4	NP_055273.2:p.(Ile490Val)	NC_000001.10:g.173744811A>G	(Likely) benign	1 lab	e7a96393b8
X:32361370 DMD C>T	X	32361370	32361370	C	T	DMD	c.5620G>A	NM_004006.3	NP_003997.2:p.(Glu1874Lys)	NC_000023.10:g.32361370C>T	(Likely) benign	1 lab	e7aacf618f
9:131339117 SPTAN1 G>T	9	131339117	131339117	G	T	SPTAN1	c.667G>T	NM_001130438.3	NP_001123910.1:p.(Glu223Ter)	NC_000009.11:g.131339117G>T	(Likely) pathogenic	1 lab	e7c1a2b826
X:31525573 DMD A>G	X	31525573	31525573	A	G	DMD	c.8218-3T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31525573A>G	(Likely) benign	1 lab	e8288e9a54
1:160104950 ATP1A2 C>T	1	160104950	160104950	C	T	ATP1A2	c.1980C>T	NM_000702.4	NP_000693.1:p.(Cys660=)	NC_000001.10:g.160104950C>T	(Likely) benign	1 lab	e86da5fc7f
11:57373962 SERPING1 T>C	11	57373962	57373962	T	C	SERPING1	c.971T>C	NM_000062.3	NP_000053.2:p.(Met324Thr)	NC_000011.9:g.57373962T>C	VUS	1 lab	e87b223ef9
14:68196030 RDH12 G>A	14	68196030	68196030	G	A	RDH12	c.781G>A	NM_152443.3	NP_689656.2:p.(Gly261Arg)	NC_000014.8:g.68196030G>A	VUS	1 lab	e88c809008
7:16255673 CRPPA G>A	7	16255673	16255673	G	A	CRPPA	c.1251+18C>T	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16255673G>A	(Likely) benign	1 lab	e94e2c2c69
14:105415662 AHNAK2 A>G	14	105415662	105415662	A	G	AHNAK2	c.6126T>C	NM_138420.4	NP_612429.2:p.(Ser2042=)	NC_000014.8:g.105415662A>G	(Likely) benign	1 lab	e98b941fe1
7:44186042 GCK C>T	7	44186042	44186042	C	T	GCK	c.1019+20G>A	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44186042C>T	(Likely) pathogenic	1 lab	e9b481cdbc
2:152589659 NEB G>A	2	152589659	152589659	G	A	NEB	c.12C>T	NM_001164508.2	NP_001157980.2:p.(Asp4=)	NC_000002.11:g.152589659G>A	(Likely) benign	1 lab	e9b71ecd81
9:119115167 PAPPA G>A	9	119115167	119115167	G	A	PAPPA	c.4147G>A	NM_002581.5	NP_002572.2:p.(Val1383Met)	NC_000009.11:g.119115167G>A	(Likely) benign	1 lab	e9f7816448
13:20656238 ZMYM2 T>A	13	20656238	20656238	T	A	ZMYM2	c.3536T>A	NM_003453.6	NP_003444.1:p.(Leu1179Gln)	NC_000013.10:g.20656238T>A	VUS	1 lab	ea2b3db448
19:38959615 RYR1 T>G	19	38959615	38959615	T	G	RYR1	c.3391T>G	NM_000540.3	NP_000531.2:p.(Trp1131Gly)	NC_000019.9:g.38959615T>G	VUS	1 lab	ea454866c1
2:219919968 IHH G>T	2	219919968	219919968	G	T	IHH	c.1197C>A	NM_002181.4	NP_002172.2:p.(Gly399=)	NC_000002.11:g.219919968G>T	(Likely) benign	1 lab	ea477ad7d6
X:70471040 ZMYM3 A>C	X	70471040	70471040	A	C	ZMYM3	c.766T>G	NM_001171162.1	NP_001164633.1:p.(Ser256Ala)	NC_000023.10:g.70471040A>C	VUS	1 lab	ea65bead99
6:29640785 ZFP57 T>A	6	29640785	29640785	T	A	ZFP57	c.1103A>T	NM_001109809.5	NP_001103279.2:p.(Asp368Val)	NC_000006.11:g.29640785T>A	(Likely) benign	1 lab	ea7c913318
7:31014673 GHRHR T>A	7	31014673	31014673	T	A	GHRHR	c.882+18T>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31014673T>A	(Likely) benign	1 lab	ea7d1c4398
X:13786188 OFD1 T>C	X	13786188	13786188	T	C	OFD1	c.2773T>C	NM_003611.3	NP_003602.1:p.(Ser925Pro)	NC_000023.10:g.13786188T>C	VUS	1 lab	eaea64bee8
1:165697341 TMCO1 G>A	1	165697341	165697341	G	A	TMCO1	c.486C>T	NM_019026.6	NP_061899.3:p.(Leu162=)	NC_000001.10:g.165697341G>A	(Likely) benign	1 lab	eaee15daf6
7:92732769 SAMD9 T>C	7	92732769	92732769	T	C	SAMD9	c.2642A>G	NM_017654.4	NP_060124.2:p.(Asp881Gly)	NC_000007.13:g.92732769T>C	(Likely) benign	1 lab	eb09fba202
19:15302902 NOTCH3 C>T	19	15302902	15302902	C	T	NOTCH3	c.548G>A	NM_000435.3	NP_000426.2:p.(Cys183Tyr)	NC_000019.9:g.15302902C>T	(Likely) pathogenic	1 lab	eb4f563557
19:50921258 POLD1 C>A	19	50921258	50921258	C	A	POLD1	c.*54C>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50921258C>A	VUS	1 lab	ec073a64c8
16:2161569 PKD1 GCACCGCT>G	16	2161569	2161581	GCACCGCT	G	PKD1	c.3592_3598del	NM_001009944.3	NP_001009944.3:p.(Ser1198ArgfsTer20)	NC_000016.9:g.2161575_2161581del	(Likely) pathogenic	1 lab	ec28af9c4e
6:146755835 GRM1 G>A	6	146755835	146755835	G	A	GRM1	c.3488G>A	NM_001278064.2	NP_001264993.1:p.(Ser1163Asn)	NC_000006.11:g.146755835G>A	VUS	1 lab	ec565eccd3
7:143018878 CLCN1 C>T	7	143018878	143018878	C	T	CLCN1	c.633C>T	NM_000083.3	NP_000074.3:p.(Ala211=)	NC_000007.13:g.143018878C>T	(Likely) benign	1 lab	ec56a13f6a
20:43042367 HNF4A G>A	20	43042367	43042367	G	A	HNF4A	c.419G>A	NM_000457.5	NP_000448.3:p.(Arg140Gln)	NC_000020.10:g.43042367G>A	(Likely) benign	1 lab	ec5867d15c
X:53277979 IQSEC2 G>A	X	53277979	53277979	G	A	IQSEC2	c.2383C>T	NM_001111125.2	NP_001104595.1:p.(Arg795Trp)	NC_000023.10:g.53277979G>A	VUS	1 lab	ec95d6d966
10:89473069 PAPSS2 T>A	10	89473069	89473069	T	A	PAPSS2	c.381+2T>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473069T>A	VUS	1 lab	ecb55f50c2
6:146480740 GRM1 TTCTCTCTCTCTCTC>T	6	146480740	146480778	TTCTCTCTCTCTCTC	T	GRM1	c.950+32_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480765_146480778del	(Likely) benign	1 lab	ecf5f59e82
16:3777836 CREBBP T>C	16	3777836	3777836	T	C	CREBBP	c.7212A>G	NM_004380.3	NP_004371.2:p.(Glu2404=)	NC_000016.9:g.3777836T>C	(Likely) benign	1 lab	ecfa1c201e
2:215645911 BARD1 A>G	2	215645911	215645911	A	G	BARD1	c.687T>C	NM_000465.4	NP_000456.2:p.(Phe229=)	NC_000002.11:g.215645911A>G	(Likely) benign	1 lab	ed02c6ae1d
9:135946671 CEL G>C	9	135946671	135946671	G	C	CEL	c.1782G>C	NM_001807.6	NP_001798.3:p.(Pro594=)	NC_000009.11:g.135946671G>C	(Likely) benign	1 lab	ed1a189585
13:110813531 COL4A1 C>T	13	110813531	110813531	C	T	COL4A1	c.4640+8G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110813531C>T	(Likely) benign	1 lab	edca7e1ef5
20:42744861 JPH2 G>T	20	42744861	42744861	G	T	JPH2	c.1454C>A	NM_020433.5	NP_065166.2:p.(Pro485Gln)	NC_000020.10:g.42744861G>T	VUS	1 lab	ee01517400
1:196883778 CFHR4 G>A	1	196883778	196883778	G	A	CFHR4	c.1334G>A	NM_001201550.3	NP_001188479.1:p.(Trp445Ter)	NC_000001.10:g.196883778G>A	VUS	1 lab	ee5dfbf4e1
19:50912936 POLD1 G>GA	19	50912936	50912937	G	GA	POLD1	c.2154+13_2154+14insA	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50912936_50912937insA	(Likely) benign	1 lab	ee633cb771
19:39066590 RYR1 G>T	19	39066590	39066590	G	T	RYR1	c.14161G>T	NM_000540.3	NP_000531.2:p.(Val4721Phe)	NC_000019.9:g.39066590G>T	VUS	1 lab	ee84638a97
4:88940594 PKD2 C>T	4	88940594	88940594	C	T	PKD2	c.596-16C>T	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88940594C>T	(Likely) benign	1 lab	eebcab2c2d
2:220081416 ABCB6 G>A	2	220081416	220081416	G	A	ABCB6	c.826C>T	NM_005689.4	NP_005680.1:p.(Arg276Trp)	NC_000002.11:g.220081416G>A	(Likely) benign	1 lab	eec9da66da
6:15524679 DTNBP1 G>A	6	15524679	15524679	G	A	DTNBP1	c.811+78C>T	NM_032122.5	NP_115498.2:p.?	NC_000006.11:g.15524679G>A	(Likely) benign	1 lab	eed9559090
9:35654158 CCDC107 C>A	9	35654158	35654158	C	A	CCDC107				NC_000009.11:g.35654158C>A	VUS	1 lab	eef41ddd8a
19:36218849 KMT2B G>A	19	36218849	36218849	G	A	KMT2B	c.4460G>A	NM_014727.3	NP_055542.1:p.(Arg1487His)	NC_000019.9:g.36218849G>A	(Likely) benign	1 lab	ef0afd8039
1:224592221 WDR26 C>T	1	224592221	224592221	C	T	WDR26	c.1210G>A	NM_025160.7	NP_079436.4:p.(Val404Ile)	NC_000001.10:g.224592221C>T	(Likely) benign	1 lab	ef191466fe
21:44486463 CBS G>A	21	44486463	44486463	G	A	CBS	c.341C>T	NM_000071.3	NP_000062.1:p.(Ala114Val)	NC_000021.8:g.44486463G>A	(Likely) pathogenic	1 lab	ef6b5d79ed
X:74293618 ABCB7 G>A	X	74293618	74293618	G	A	ABCB7	c.945-7C>T	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74293618G>A	(Likely) benign	1 lab	ef749606a2
1:237951365 RYR2 G>C	1	237951365	237951365	G	C	RYR2	c.13406G>C	NM_001035.3	NP_001026.2:p.(Arg4469Thr)	NC_000001.10:g.237951365G>C	(Likely) benign	1 lab	f03868209d
4:1795539 FGFR3 GCTGCCTTC>G	4	1795539	1795549	GCTGCCTTC	G	FGFR3	c.-102-18_-102-11del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795542_1795549del	(Likely) benign	1 lab	f07679224f
5:122700210 CEP120 C>A	5	122700210	122700210	C	A	CEP120	c.2560G>T	NM_001375405.1	NP_001362334.1:p.(Glu854Ter)	NC_000005.9:g.122700210C>A	(Likely) pathogenic	1 lab	f07c480a6b
15:89390559 ACAN G>A	15	89390559	89390559	G	A	ACAN	c.1515G>A	NM_001369268.1	NP_001356197.1:p.(Ala505=)	NC_000015.9:g.89390559G>A	(Likely) benign	1 lab	f07e842c9c
15:89400080 ACAN A>G	15	89400080	89400080	A	G	ACAN	c.4264A>G	NM_001369268.1	NP_001356197.1:p.(Thr1422Ala)	NC_000015.9:g.89400080A>G	(Likely) benign	1 lab	f092cd6500
6:116542298 NT5DC1 G>A	6	116542298	116542298	G	A	NT5DC1	c.611G>A	NM_152729.2	NP_689942.2:p.(Trp204Ter)	NC_000006.11:g.116542298G>A	(Likely) benign	1 lab	f0b0dd2203
11:17436865 ABCC8 G>A	11	17436865	17436865	G	A	ABCC8	c.2277C>T	NM_000352.6	NP_000343.2:p.(Thr759=)	NC_000011.9:g.17436865G>A	(Likely) benign	1 lab	f0bb828d98
17:79890818 PYCR1 C>T	17	79890818	79890818	C	T	PYCR1	c.*272G>A	NM_006907.4	NP_008838.2:p.?	NC_000017.10:g.79890818C>T	(Likely) benign	1 lab	f0df18800c
3:48608348 COL7A1 C>T	3	48608348	48608348	C	T	COL7A1	c.7218G>A	NM_000094.4	NP_000085.1:p.(Pro2406=)	NC_000003.11:g.48608348C>T	VUS	1 lab	f0f4ef768d
19:13366055 CACNA1A C>T	19	13366055	13366055	C	T	CACNA1A	c.4612G>A	NM_001127221.1	NP_001120693.1:p.(Ala1538Thr)	NC_000019.9:g.13366055C>T	VUS	1 lab	f12e62443f
13:111117923 COL4A2 C>T	13	111117923	111117923	C	T	COL4A2	c.1948C>T	NM_001846.4	NP_001837.2:p.(Pro650Ser)	NC_000013.10:g.111117923C>T	(Likely) benign	1 lab	f144b9c90d
12:6166053 VWF G>A	12	6166053	6166053	G	A	VWF	c.1915C>T	NM_000552.3	NP_000543.2:p.(Arg639Cys)	NC_000012.11:g.6166053G>A	(Likely) benign	1 lab	f18cb9e805
12:133201599 POLE G>C	12	133201599	133201599	G	C	POLE	c.6658-19C>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133201599G>C	VUS	1 lab	f1c5334a8b
17:59761216 BRIP1 A>G	17	59761216	59761216	A	G	BRIP1	c.3191T>C	NM_032043.3	NP_114432.2:p.(Phe1064Ser)	NC_000017.10:g.59761216A>G	VUS	1 lab	f1e6c10576
22:28194425 MN1 C>T	22	28194425	28194425	C	T	MN1	c.2107G>A	NM_002430.3	NP_002421.3:p.(Gly703Arg)	NC_000022.10:g.28194425C>T	VUS	1 lab	f202a3e3ec
8:144993975 PLEC G>A	8	144993975	144993975	G	A	PLEC	c.10014C>T	NM_201384.3	NP_958786.1:p.(Val3338=)	NC_000008.10:g.144993975G>A	(Likely) benign	1 lab	f24414a5c9
20:61467623 COL9A3 G>A	20	61467623	61467623	G	A	COL9A3	c.1486G>A	NM_001853.4	NP_001844.3:p.(Gly496Ser)	NC_000020.10:g.61467623G>A	VUS	1 lab	f2508adc34
1:120278072 PHGDH T>G	1	120278072	120278072	T	G	PHGDH	c.792+6T>G	NM_006623.4	NP_006614.2:p.?	NC_000001.10:g.120278072T>G	(Likely) benign	1 lab	f254671a83
4:6304030 WFS1 G>C	4	6304030	6304030	G	C	WFS1	c.2508G>C	NM_006005.3	NP_005996.2:p.(Lys836Asn)	NC_000004.11:g.6304030G>C	(Likely) pathogenic	1 lab	f2566d71ab
18:31324766 ASXL3 G>A	18	31324766	31324766	G	A	ASXL3	c.4954G>A	NM_030632.3	NP_085135.1:p.(Val1652Met)	NC_000018.9:g.31324766G>A	(Likely) benign	1 lab	f275ba10b3
9:135946686 CEL CG>C	9	135946686	135946690	CG	C	CEL	c.1801del	NM_001807.6	NP_001798.3:p.(Ala601ProfsTer103)	NC_000009.11:g.135946690del	(Likely) benign	1 lab	f2938bb17f
11:17449965 ABCC8 T>C	11	17449965	17449965	T	C	ABCC8	c.1924-13A>G	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17449965T>C	(Likely) benign	1 lab	f2a1af1002
9:135946755 CEL G>C	9	135946755	135946755	G	C	CEL	c.1866G>C	NM_001807.6	NP_001798.3:p.(Gly622=)	NC_000009.11:g.135946755G>C	(Likely) benign	1 lab	f2c83266be
9:135946995 CEL C>T	9	135946995	135946995	C	T	CEL	c.2106C>T	NM_001807.6	NP_001798.3:p.(Pro702=)	NC_000009.11:g.135946995C>T	(Likely) benign	1 lab	f2d221c43d
16:2143955 PKD1 C>T	16	2143955	2143955	C	T	PKD1	c.10678G>A	NM_001009944.3	NP_001009944.3:p.(Gly3560Arg)	NC_000016.9:g.2143955C>T	(Likely) benign	1 lab	f2f312107f
15:91428289 FES C>T	15	91428289	91428289	C	T	FES	c.14C>T	NM_002005.4	NP_001996.1:p.(Ser5Phe)	NC_000015.9:g.91428289C>T	(Likely) benign	1 lab	f2f5f46d10
8:144993651 PLEC G>A	8	144993651	144993651	G	A	PLEC	c.10338C>T	NM_201384.3	NP_958786.1:p.(Ser3446=)	NC_000008.10:g.144993651G>A	(Likely) benign	1 lab	f2fc488494
16:774193 CCDC78 G>T	16	774193	774193	G	T	CCDC78	c.966C>A	NM_001378030.1	NP_001364959.1:p.(Asn322Lys)	NC_000016.9:g.774193G>T	(Likely) benign	1 lab	f300b5e903
X:37587580 XK G>GCC	X	37587580	37587582	G	GCC	XK	c.1201_1202insCC	NM_021083.4	NP_066569.1:p.(Gln401ProfsTer9)	NC_000023.10:g.37587581_37587582insCC	VUS	1 lab	f3096ddee4
7:34010012 BMPER G>A	7	34010012	34010012	G	A	BMPER	c.474G>A	NM_001365308.1	NP_001352237.1:p.(Met158Ile)	NC_000007.13:g.34010012G>A	(Likely) benign	1 lab	f340f5b961
19:51169498 SHANK1 C>T	19	51169498	51169498	C	T	SHANK1	c.5719G>A	NM_016148.5	NP_057232.2:p.(Gly1907Arg)	NC_000019.9:g.51169498C>T	(Likely) benign	1 lab	f37cf733e9
20:61448937 COL9A3 C>T	20	61448937	61448937	C	T	COL9A3	c.97C>T	NM_001853.4	NP_001844.3:p.(Pro33Ser)	NC_000020.10:g.61448937C>T	VUS	1 lab	f3c884b6e2
16:30734045 SRCAP A>G	16	30734045	30734045	A	G	SRCAP	c.3868A>G	NM_006662.3	NP_006653.2:p.(Ser1290Gly)	NC_000016.9:g.30734045A>G	(Likely) benign	1 lab	f3f73539dd
19:18897440 COMP T>C	19	18897440	18897440	T	C	COMP	c.1156A>G	NM_000095.3	NP_000086.2:p.(Asn386Asp)	NC_000019.9:g.18897440T>C	(Likely) benign	1 lab	f4255d830e
7:45109511 CCM2 G>A	7	45109511	45109511	G	A	CCM2	c.696G>A	NM_031443.4	NP_113631.1:p.(Ala232=)	NC_000007.13:g.45109511G>A	(Likely) benign	1 lab	f447805ce1
9:135942510 CEL C>T	9	135942510	135942510	C	T	CEL	c.813C>T	NM_001807.6	NP_001798.3:p.(Ala271=)	NC_000009.11:g.135942510C>T	(Likely) benign	1 lab	f51855d9e4
7:6036902 PMS2 A>T	7	6036902	6036902	A	T	PMS2	c.803+55T>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6036902A>T	(Likely) benign	1 lab	f52fa1621f
3:81697990 GBE1 TCA>T	3	81697990	81697994	TCA	T	GBE1	c.691+15_691+16del	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81697993_81697994del	(Likely) benign	1 lab	f53e168f71
3:70008576 MITF G>A	3	70008576	70008576	G	A	MITF	c.1179+5G>A	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.70008576G>A	VUS	1 lab	f5b527633a
12:121431489 HNF1A G>A	12	121431489	121431489	G	A	HNF1A	c.693G>A	NM_000545.8	NP_000536.6:p.(Thr231=)	NC_000012.11:g.121431489G>A	(Likely) benign	1 lab	f5d937f060
8:144990414 PLEC C>T	8	144990414	144990414	C	T	PLEC	c.13575G>A	NM_201384.3	NP_958786.1:p.(Ser4525=)	NC_000008.10:g.144990414C>T	(Likely) benign	1 lab	f5f4b914e8
1:45340342 EIF2B3 A>C	1	45340342	45340342	A	C	EIF2B3	c.1202+8T>G	NM_020365.5	NP_065098.1:p.?	NC_000001.10:g.45340342A>C	(Likely) benign	1 lab	f600e7a0ac
1:215990496 USH2A C>T	1	215990496	215990496	C	T	USH2A	c.9413G>A	NM_206933.4	NP_996816.3:p.(Gly3138Asp)	NC_000001.10:g.215990496C>T	VUS	1 lab	f62bb6a410
15:89399395 ACAN C>T	15	89399395	89399395	C	T	ACAN	c.3579C>T	NM_001369268.1	NP_001356197.1:p.(Thr1193=)	NC_000015.9:g.89399395C>T	VUS	1 lab	f64201c560
17:65908571 BPTF A>C	17	65908571	65908571	A	C	BPTF	c.4571A>C	NM_182641.4	NP_872579.2:p.(Glu1524Ala)	NC_000017.10:g.65908571A>C	VUS	1 lab	f666eab8b8
7:128849148 SMO C>T	7	128849148	128849148	C	T	SMO	c.1376C>T	NM_005631.5	NP_005622.1:p.(Ala459Val)	NC_000007.13:g.128849148C>T	(Likely) pathogenic	1 lab	f67b51dd1a
2:47698132 MSH2 A>G	2	47698132	47698132	A	G	MSH2	c.1690A>G	NM_000251.3	NP_000242.1:p.(Thr564Ala)	NC_000002.11:g.47698132A>G	(Likely) benign	1 lab	f6fe8a8dae
8:144995500 PLEC T>C	8	144995500	144995500	T	C	PLEC	c.8489A>G	NM_201384.3	NP_958786.1:p.(Tyr2830Cys)	NC_000008.10:g.144995500T>C	(Likely) benign	1 lab	f729247a8d
9:94493330 ROR2 G>C	9	94493330	94493330	G	C	ROR2	c.1045C>G	NM_004560.4	NP_004551.2:p.(His349Asp)	NC_000009.11:g.94493330G>C	(Likely) benign	1 lab	f733fbb93d
15:42680003 CAPN3 C>T	15	42680003	42680003	C	T	CAPN3	c.551C>T	NM_000070.3	NP_000061.1:p.(Thr184Met)	NC_000015.9:g.42680003C>T	(Likely) benign	1 lab	f7a4f1e3dc
15:89382008 ACAN C>A	15	89382008	89382008	C	A	ACAN	c.185C>A	NM_001369268.1	NP_001356197.1:p.(Thr62Asn)	NC_000015.9:g.89382008C>A	VUS	1 lab	f7fd1f2f1f
2:98709704 VWA3B T>C	2	98709704	98709704	T	C	VWA3B	c.149T>C	NM_144992.5	NP_659429.4:p.(Leu50Ser)	NC_000002.11:g.98709704T>C	VUS	1 lab	f7ffb4b1fb
5:151235862 GLRA1 A>G	5	151235862	151235862	A	G	GLRA1	c.559T>C	NM_000171.4	NP_000162.2:p.(Phe187Leu)	NC_000005.9:g.151235862A>G	(Likely) pathogenic	1 lab	f830f60218
2:179610417 TTN G>C	2	179610417	179610417	G	C	TTN	c.16710C>G	NM_133379.5	NP_596870.2:p.(Asn5570Lys)	NC_000002.11:g.179610417G>C	VUS	1 lab	f8324f69da
11:6644283 DCHS1 C>T	11	6644283	6644283	C	T	DCHS1	c.8624G>A	NM_003737.4	NP_003728.1:p.(Arg2875Gln)	NC_000011.9:g.6644283C>T	VUS	1 lab	f859ebded2
3:37035527 MLH1 G>A	3	37035527	37035527	G	A	MLH1	c.116+373G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37035527G>A	VUS	1 lab	f87daef8ff
16:72993159 ZFHX3 A>G	16	72993159	72993159	A	G	ZFHX3	c.886T>C	NM_006885.4	NP_008816.3:p.(Ser296Pro)	NC_000016.9:g.72993159A>G	(Likely) benign	1 lab	f8caf66457
6:29641156 ZFP57 A>G	6	29641156	29641156	A	G	ZFP57	c.732T>C	NM_001109809.5	NP_001103279.2:p.(Ser244=)	NC_000006.11:g.29641156A>G	(Likely) benign	1 lab	f8fd3e428c
1:24021224 RPL11 C>T	1	24021224	24021224	C	T	RPL11	c.339C>T	NM_000975.5	NP_000966.2:p.(Ile113=)	NC_000001.10:g.24021224C>T	(Likely) benign	1 lab	f955fca8ab
5:14488173 TRIO T>G	5	14488173	14488173	T	G	TRIO	c.7436T>G	NM_007118.4	NP_009049.2:p.(Leu2479Arg)	NC_000005.9:g.14488173T>G	VUS	1 lab	fddd7f81dd
3:184090333 THPO T>C	3	184090333	184090333	T	C	THPO	c.1030A>G	NM_000460.4	NP_000451.1:p.(Thr344Ala)	NC_000003.11:g.184090333T>C	(Likely) benign	1 lab	f970a40dbe
8:144998620 PLEC C>T	8	144998620	144998620	C	T	PLEC	c.5477G>A	NM_201384.3	NP_958786.1:p.(Arg1826Gln)	NC_000008.10:g.144998620C>T	(Likely) benign	1 lab	f97c0097b2
17:12656632 MYOCD C>A	17	12656632	12656632	C	A	MYOCD	c.2027C>A	NM_001146312.3	NP_001139784.1:p.(Ser676Ter)	NC_000017.10:g.12656632C>A	VUS	1 lab	f9a19fa0b7
16:29811027 KIF22 T>A	16	29811027	29811027	T	A	KIF22	c.1069T>A	NM_007317.3	NP_015556.1:p.(Ser357Thr)	NC_000016.9:g.29811027T>A	(Likely) benign	1 lab	f9eb32f7b9
8:27657082 ESCO2 A>G	8	27657082	27657082	A	G	ESCO2	c.1522A>G	NM_001017420.3	NP_001017420.1:p.(Ile508Val)	NC_000008.10:g.27657082A>G	(Likely) benign	1 lab	fa3dbcb2a6
22:36684980 MYH9 G>A	22	36684980	36684980	G	A	MYH9	c.4563C>T	NM_002473.6	NP_002464.1:p.(His1521=)	NC_000022.10:g.36684980G>A	(Likely) benign	1 lab	fa4aa2ff95
19:18895007 COMP T>G	19	18895007	18895007	T	G	COMP	c.2081A>C	NM_000095.3	NP_000086.2:p.(Tyr694Ser)	NC_000019.9:g.18895007T>G	VUS	1 lab	fa6e726d5d
17:7750870 KDM6B G>A	17	7750870	7750870	G	A	KDM6B				NC_000017.10:g.7750870G>A	(Likely) pathogenic	1 lab	faa7a2357c
12:56091613 ITGA7 A>G	12	56091613	56091613	A	G	ITGA7	c.1282-7T>C	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56091613A>G	VUS	1 lab	fab6c03de5
1:241663902 FH T>A	1	241663902	241663902	T	A	FH	c.1237-12A>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663902T>A	VUS	1 lab	fabf804a71
8:144997520 PLEC G>A	8	144997520	144997520	G	A	PLEC	c.6577C>T	NM_201384.3	NP_958786.1:p.(Leu2193=)	NC_000008.10:g.144997520G>A	(Likely) benign	1 lab	fad750966d
19:15284866 NOTCH3 T>TG	19	15284866	15284870	T	TG	NOTCH3	c.4736+12dup	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15284870dup	(Likely) benign	1 lab	faeede7b8f
17:61994777 GH1 T>C	17	61994777	61994777	T	C	GH1	c.546A>G	NM_000515.5	NP_000506.2:p.(Leu182=)	NC_000017.10:g.61994777T>C	(Likely) benign	1 lab	fb09a8cd82
10:89487046 PAPSS2 G>A	10	89487046	89487046	G	A	PAPSS2	c.886G>A	NM_001015880.2	NP_001015880.1:p.(Val296Met)	NC_000010.10:g.89487046G>A	(Likely) benign	1 lab	fb5b4d63a0
20:44520355 CTSA T>G	20	44520355	44520355	T	G	CTSA	c.148T>G	NM_000308.4	NP_000299.3:p.(Tyr50Asp)	NC_000020.10:g.44520355T>G	VUS	1 lab	fbddbdd1ab
9:2039522 SMARCA2 A>G	9	2039522	2039522	A	G	SMARCA2	c.412A>G	NM_003070.5	NP_003061.3:p.(Met138Val)	NC_000009.11:g.2039522A>G	VUS	1 lab	fc38f37b32
17:63532631 AXIN2 G>A	17	63532631	63532631	G	A	AXIN2	c.1948C>T	NM_004655.4	NP_004646.3:p.(Arg650Cys)	NC_000017.10:g.63532631G>A	(Likely) benign	1 lab	fc46c9b6ac
22:50962514 SCO2 G>A	22	50962514	50962514	G	A	SCO2	c.327C>T	NM_005138.3	NP_005129.2:p.(His109=)	NC_000022.10:g.50962514G>A	(Likely) benign	1 lab	fc47555ae5
11:17409154 KCNJ11 A>T	11	17409154	17409154	A	T	KCNJ11	c.485T>A	NM_000525.4	NP_000516.3:p.(Ile162Asn)	NC_000011.9:g.17409154A>T	VUS	1 lab	fcc67427cb
13:101944442 NALCN C>T	13	101944442	101944442	C	T	NALCN	c.946G>A	NM_052867.4	NP_443099.1:p.(Val316Met)	NC_000013.10:g.101944442C>T	VUS	1 lab	fce02a6f02
9:135947001 CEL CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG>C	9	135947001	135947050	CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCG	C	CEL	c.2129_2161del	NM_001807.6	NP_001798.3:p.(Glu710_Ser720del)	NC_000009.11:g.135947018_135947050del	(Likely) benign	1 lab	fce1f824cf
17:15903308 TTC19 C>T	17	15903308	15903308	C	T	TTC19	c.146C>T	NM_017775.4	NP_060245.3:p.(Pro49Leu)	NC_000017.10:g.15903308C>T	VUS	1 lab	fd9364f672
13:108862830 LIG4 T>C	13	108862830	108862830	T	C	LIG4	c.787A>G	NM_002312.3	NP_002303.2:p.(Met263Val)	NC_000013.10:g.108862830T>C	VUS	1 lab	fdc24846fa
20:56993301 VAPB G>T	20	56993301	56993301	G	T	VAPB	c.93G>T	NM_004738.5	NP_004729.1:p.(Lys31Asn)	NC_000020.10:g.56993301G>T	VUS	1 lab	fdd27464b3
2:149267709 MBD5 GTTAAT>G	2	149267709	149267717	GTTAAT	G	MBD5	c.5112+9_5112+13del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149267713_149267717del	VUS	1 lab	fde67f6484
12:48367998 COL2A1 A>C	12	48367998	48367998	A	C	COL2A1	c.4191T>G	NM_001844.5	NP_001835.3:p.(Ile1397Met)	NC_000012.11:g.48367998A>C	VUS	1 lab	fe131e0608
16:56368689 GNAO1 C>A	16	56368689	56368689	C	A	GNAO1	c.513C>A	NM_020988.3	NP_066268.1:p.(Thr171=)	NC_000016.9:g.56368689C>A	(Likely) benign	1 lab	fe168c780f
6:43006016 CUL7 G>T	6	43006016	43006016	G	T	CUL7	c.4762C>A	NM_014780.5	NP_055595.2:p.(Leu1588Ile)	NC_000006.11:g.43006016G>T	(Likely) benign	1 lab	fe66ae0602
4:6293079 WFS1 C>G	4	6293079	6293079	C	G	WFS1	c.616C>G	NM_006005.3	NP_005996.2:p.(Gln206Glu)	NC_000004.11:g.6293079C>G	VUS	1 lab	fea3821333
1:162740121 DDR2 G>A	1	162740121	162740121	G	A	DDR2	c.1323G>A	NM_006182.4	NP_006173.2:p.(Met441Ile)	NC_000001.10:g.162740121G>A	(Likely) benign	1 lab	fec11f2183
1:156100448 LMNA C>T	1	156100448	156100448	C	T	LMNA	c.397C>T	NM_170707.4	NP_733821.1:p.(Arg133Trp)	NC_000001.10:g.156100448C>T	VUS	1 lab	fecfb36fbf
13:111154040 COL4A2 A>G	13	111154040	111154040	A	G	COL4A2	c.3786A>G	NM_001846.4	NP_001837.2:p.(Pro1262=)	NC_000013.10:g.111154040A>G	VUS	1 lab	fef8a11e22
7:124477270 POT1 A>G	7	124477270	124477270	A	G	POT1	c.1370-1802T>C	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124477270A>G	VUS	1 lab	ff0ea78a40
17:78092473 GAA G>C	17	78092473	78092473	G	C	GAA	c.2668G>C	NM_000152.5	NP_000143.2:p.(Val890Leu)	NC_000017.10:g.78092473G>C	(Likely) benign	1 lab	ff25f1c88e
X:71825130 PHKA1 G>A	X	71825130	71825130	G	A	PHKA1	c.2806C>T	NM_002637.4	NP_002628.2:p.(Arg936Ter)	NC_000023.10:g.71825130G>A	(Likely) pathogenic	1 lab	ff290d2fbf
19:41847942 TGFB1 TG>T	19	41847942	41847944	TG	T	TGFB1	c.713-8del	NM_000660.7	NP_000651.3:p.?	NC_000019.9:g.41847944del	(Likely) benign	1 lab	ff722821e0
8:22864888 RHOBTB2 G>T	8	22864888	22864888	G	T	RHOBTB2	c.1130G>T	NM_015178.3	NP_055993.2:p.(Gly377Val)	NC_000008.10:g.22864888G>T	VUS	1 lab	ff785015ad
1:76198559 ACADM A>G	1	76198559	76198559	A	G	ACADM	c.238A>G	NM_000016.6	NP_000007.1:p.(Arg80Gly)	NC_000001.10:g.76198559A>G	(Likely) pathogenic	1 lab	ff972ac49f
17:8021612 ALOXE3 C>A	17	8021612	8021612	C	A	ALOXE3	c.-304G>T	NM_021628.3	NP_067641.2:p.?	NC_000017.10:g.8021612C>A	(Likely) benign	1 lab	ffd0ed67a0
2:48030707 MSH6 T>G	2	48030707	48030707	T	G	MSH6	c.3321T>G	NM_000179.3	NP_000170.1:p.(Asp1107Glu)	NC_000002.11:g.48030707T>G	VUS	1 lab	ffe96d17fc
14:102493736 DYNC1H1 C>T	14	102493736	102493736	C	T	DYNC1H1	c.8903C>T	NM_001376.4	NP_001367.2:p.(Thr2968Ile)	NC_000014.8:g.102493736C>T	VUS	1 lab	133c05020a
2:55900042 PNPT1 C>G	2	55900042	55900042	C	G	PNPT1	c.852G>C	NM_033109.4	NP_149100.2:p.(Val284=)	NC_000002.11:g.55900042C>G	(Likely) benign	1 lab	133d12d72a
X:10535406 MID1 T>C	X	10535406	10535406	T	C	MID1	c.182A>G	NM_001347733.1	NP_001334662.1:p.(His61Arg)	NC_000023.10:g.10535406T>C	VUS	1 lab	133e52a385
20:3218279 SLC4A11 T>G	20	3218279	3218279	T	G	SLC4A11	c.47A>C	NM_032034.3	NP_114423.1:p.(Gln16Pro)	NC_000020.10:g.3218279T>G	VUS	1 lab	13408a0062
14:105421874 AHNAK2 C>T	14	105421874	105421874	C	T	AHNAK2	c.412G>A	NM_138420.3	NP_612429.2:p.(Val138Ile)	NC_000014.8:g.105421874C>T	(Likely) benign	1 lab	13414d0c7e
17:80016263 DUS1L G>A	17	80016263	80016263	G	A	DUS1L	c.1236C>T	NM_022156.4	NP_071439.3:p.(Arg412=)	NC_000017.10:g.80016263G>A	(Likely) benign	1 lab	13429d5357
17:29592296 NF1 A>AT	17	29592296	29592300	A	AT	NF1	c.4715dup	NM_000267.3	NP_000258.1:p.(Tyr1573LeufsTer28)	NC_000017.10:g.29592300dup	(Likely) pathogenic	1 lab	1343720fb5
19:49206646 FUT2 G>A	19	49206646	49206646	G	A	FUT2	c.433G>A	NM_000511.5	NP_000502.4:p.(Val145Ile)	NC_000019.9:g.49206646G>A	(Likely) benign	1 lab	134422350e
X:105153369 NRK A>G	X	105153369	105153369	A	G	NRK	c.1736A>G	NM_198465.3	NP_940867.2:p.(Glu579Gly)	NC_000023.10:g.105153369A>G	(Likely) benign	1 lab	134554fe11
16:2121641 TSC2 C>T	16	2121641	2121641	C	T	TSC2	c.1946+24C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121641C>T	(Likely) benign	1 lab	1346c1c50b
2:128051179 ERCC3 C>G	2	128051179	128051179	C	G	ERCC3	c.144G>C	NM_000122.1	NP_000113.1:p.(Glu48Asp)	NC_000002.11:g.128051179C>G	(Likely) benign	1 lab	13479b93d0
1:5993252 NPHP4 G>A	1	5993252	5993252	G	A	NPHP4	c.1257C>T	NM_015102.4	NP_055917.1:p.(His419=)	NC_000001.10:g.5993252G>A	(Likely) benign	1 lab	134988d1f3
9:73225639 TRPM3 C>G	9	73225639	73225639	C	G	TRPM3				NC_000009.11:g.73225639C>G	(Likely) benign	1 lab	134a9c282b
16:30974796 SETD1A C>T	16	30974796	30974796	C	T	SETD1A	c.560C>T	NM_014712.3	NP_055527.1:p.(Ser187Phe)	NC_000016.9:g.30974796C>T	VUS	1 lab	e2faed84ad
11:70829954 SHANK2 C>T	11	70829954	70829954	C	T	SHANK2	c.332G>A	NM_012309.4	NP_036441.2:p.(Arg111His)	NC_000011.9:g.70829954C>T	VUS	1 lab	134c454adc
3:195595374 TNK2 G>A	3	195595374	195595374	G	A	TNK2	c.1750C>T	NM_005781.4	NP_005772.3:p.(Pro584Ser)	NC_000003.11:g.195595374G>A	(Likely) benign	1 lab	134cdbbb17
22:38467747 PICK1 C>T	22	38467747	38467747	C	T	PICK1	c.552C>T	NM_012407.4	NP_036539.1:p.(His184=)	NC_000022.10:g.38467747C>T	(Likely) benign	1 lab	134ee8a343
1:43201475 CLDN19 C>T	1	43201475	43201475	C	T	CLDN19	c.615G>A	NM_001185117.1	NP_001172046.1:p.(Ser205=)	NC_000001.10:g.43201475C>T	(Likely) benign	1 lab	1352736be8
12:132530396 EP400 A>G	12	132530396	132530396	A	G	EP400	c.7151A>G	NM_015409.4	NP_056224.3:p.(Gln2384Arg)	NC_000012.11:g.132530396A>G	VUS	1 lab	1353b16306
3:46008399 FYCO1 C>T	3	46008399	46008399	C	T	FYCO1	c.2427G>A	NM_024513.3	NP_078789.2:p.(Val809=)	NC_000003.11:g.46008399C>T	VUS	1 lab	1354c35193
14:21792781 RPGRIP1 G>T	14	21792781	21792781	G	T	RPGRIP1	c.1767G>T	NM_020366.3	NP_065099.3:p.(Gln589His)	NC_000014.8:g.21792781G>T	VUS	1 lab	13571a8eeb
11:6655175 DCHS1 C>G	11	6655175	6655175	C	G	DCHS1				NC_000011.9:g.6655175C>G	VUS	1 lab	b67d571339
14:105350420 CEP170B G>T	14	105350420	105350420	G	T	CEP170B	c.1304G>T	NM_001112726.3	NP_001106197.1:p.(Arg435Leu)	NC_000014.8:g.105350420G>T	VUS	1 lab	135774cf12
19:46270031 SIX5 C>A	19	46270031	46270031	C	A	SIX5	c.1186G>T	NM_175875.4	NP_787071.2:p.(Glu396Ter)	NC_000019.9:g.46270031C>A	(Likely) pathogenic	1 lab	13580c8d25
9:14801802 FREM1 T>A	9	14801802	14801802	T	A	FREM1	c.3542A>T	NM_144966.5	NP_659403.4:p.(Asp1181Val)	NC_000009.11:g.14801802T>A	VUS	1 lab	13598cb8a4
8:145112374 OPLAH G>A	8	145112374	145112374	G	A	OPLAH	c.1399C>T	NM_017570.4	NP_060040.1:p.(Arg467Trp)	NC_000008.10:g.145112374G>A	VUS	1 lab	135b3fd21c
X:153409801 OPN1LW C>T	X	153409801	153409801	C	T	OPN1LW	c.44C>T	NM_020061.5	NP_064445.2:p.(Pro15Leu)	NC_000023.10:g.153409801C>T	(Likely) benign	1 lab	135bd81043
16:2345737 ABCA3 G>A	16	2345737	2345737	G	A	ABCA3	c.2268C>T	NM_001089.2	NP_001080.2:p.(Ala756=)	NC_000016.9:g.2345737G>A	(Likely) benign	1 lab	135cc1ff7f
X:153588903 FLNA C>T	X	153588903	153588903	C	T	FLNA	c.3260G>A	NM_001110556.2	NP_001104026.1:p.(Arg1087His)	NC_000023.10:g.153588903C>T	(Likely) benign	1 lab	135ee15744
19:43373146 PSG1 G>T	19	43373146	43373146	G	T	PSG1	c.750C>A	NM_006905.2	NP_008836.2:p.(Asn250Lys)	NC_000019.9:g.43373146G>T	(Likely) benign	1 lab	136035c4e1
22:50657854 TUBGCP6 G>A	22	50657854	50657854	G	A	TUBGCP6	c.4347C>T	NM_020461.3	NP_065194.2:p.(Pro1449=)	NC_000022.10:g.50657854G>A	(Likely) benign	1 lab	1360596e49
2:228564280 SLC19A3 T>C	2	228564280	228564280	T	C	SLC19A3	c.151A>G	NM_025243.3	NP_079519.1:p.(Ile51Val)	NC_000002.11:g.228564280T>C	(Likely) benign	1 lab	1361805c53
11:111779635 CRYAB A>G	11	111779635	111779635	A	G	CRYAB	c.381T>C	NM_001885.2	NP_001876.1:p.(Asp127=)	NC_000011.9:g.111779635A>G	(Likely) benign	1 lab	1362835fab
16:88789709 PIEZO1 C>T	16	88789709	88789709	C	T	PIEZO1	c.4363G>A	NM_001142864.4	NP_001136336.2:p.(Ala1455Thr)	NC_000016.9:g.88789709C>T	(Likely) benign	1 lab	1362bd7171
1:152770392 LCE1D G>A	1	152770392	152770392	G	A	LCE1D	c.122G>A	NM_178352.2	NP_848129.1:p.(Ser41Asn)	NC_000001.10:g.152770392G>A	(Likely) benign	1 lab	13638c0651
16:89357139 ANKRD11 G>A	16	89357139	89357139	G	A	ANKRD11	c.495C>T	NM_001256182.1	NP_001243111.1:p.(Asn165=)	NC_000016.9:g.89357139G>A	(Likely) benign	1 lab	1364f29e4a
3:185375139 IGF2BP2 C>T	3	185375139	185375139	C	T	IGF2BP2	c.1339G>A	NM_001291869.2	NP_001278798.1:p.(Ala447Thr)	NC_000003.11:g.185375139C>T	VUS	1 lab	1366a20aa6
15:48789581 FBN1 A>G	15	48789581	48789581	A	G	FBN1	c.2175T>C	NM_000138.4	NP_000129.3:p.(Asn725=)	NC_000015.9:g.48789581A>G	(Likely) benign	1 lab	13670a3c87
16:2881796 ZG16B G>A	16	2881796	2881796	G	A	ZG16B	c.264-1G>A	NM_145252.2	NP_660295.2:p.?	NC_000016.9:g.2881796G>A	(Likely) benign	1 lab	1367edb134
8:61769066 CHD7 TG>T	8	61769066	61769067	TG	T	CHD7	c.7228del	NM_017780.4	NP_060250.2:p.(Glu2410ArgfsTer33)	NC_000008.10:g.61769067del	(Likely) pathogenic	1 lab	1368e277e8
1:161599575 FCGR3B G>T	1	161599575	161599575	G	T	FCGR3B	c.312C>A	NM_001244753.2	NP_001231682.2:p.(Val104=)	NC_000001.10:g.161599575G>T	(Likely) benign	1 lab	136a084514
12:132514640 EP400 C>T	12	132514640	132514640	C	T	EP400	c.5691C>T	NM_015409.4	NP_056224.3:p.(Phe1897=)	NC_000012.11:g.132514640C>T	(Likely) benign	1 lab	136ae1405f
3:134264439 CEP63 C>A	3	134264439	134264439	C	A	CEP63	c.567C>A	NM_025180.4	NP_079456.2:p.(Val189=)	NC_000003.11:g.134264439C>A	(Likely) benign	1 lab	136bce5184
1:183556052 NCF2 T>C	1	183556052	183556052	T	C	NCF2	c.235A>G	NM_000433.3	NP_000424.2:p.(Met79Val)	NC_000001.10:g.183556052T>C	(Likely) benign	1 lab	136c87a47b
1:162740187 DDR2 T>C	1	162740187	162740187	T	C	DDR2	c.1389T>C	NM_001014796.2	NP_001014796.1:p.(Ser463=)	NC_000001.10:g.162740187T>C	(Likely) benign	1 lab	1372c7fccd
2:122288528 RNU4ATAC C>G	2	122288528	122288528	C	G	RNU4ATAC	n.73C>G	NR_023343.1		NC_000002.11:g.122288528C>G	VUS	1 lab	1373e1059c
12:57971508 KIF5A G>A	12	57971508	57971508	G	A	KIF5A	c.2313G>A	NM_004984.3	NP_004975.2:p.(Glu771=)	NC_000012.11:g.57971508G>A	(Likely) benign	1 lab	1375a843d9
2:179452553 TTN T>C	2	179452553	179452553	T	C	TTN	c.63509-26A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179452553T>C	(Likely) benign	1 lab	1376d6319e
5:172661899 NKX2-5 G>A	5	172661899	172661899	G	A	NKX2-5	c.188C>T	NM_004387.3	NP_004378.1:p.(Ala63Val)	NC_000005.9:g.172661899G>A	VUS	1 lab	137a10e267
4:39463894 LIAS T>C	4	39463894	39463894	T	C	LIAS	c.297T>C	NM_006859.3	NP_006850.2:p.(Asn99=)	NC_000004.11:g.39463894T>C	(Likely) benign	1 lab	137a111f6b
2:71840550 DYSF G>T	2	71840550	71840550	G	T	DYSF	c.4461+10G>T	NM_001130981.1	NP_001124453.1:p.?	NC_000002.11:g.71840550G>T	(Likely) benign	1 lab	137c799ce5
10:15649678 ITGA8 G>A	10	15649678	15649678	G	A	ITGA8	c.1762C>T	NM_003638.2	NP_003629.2:p.(Arg588Ter)	NC_000010.10:g.15649678G>A	(Likely) pathogenic	1 lab	137df7141a
19:10476187 TYK2 G>A	19	10476187	10476187	G	A	TYK2	c.1011+6C>T	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10476187G>A	(Likely) benign	1 lab	1380245398
9:102991972 INVS A>G	9	102991972	102991972	A	G	INVS	c.190A>G	NM_001318381.1	NP_001305310.1:p.(Asn64Asp)	NC_000009.11:g.102991972A>G	VUS	1 lab	1380743df4
6:56481075 DST G>C	6	56481075	56481075	G	C	DST	c.7190C>G	NM_001723.5	NP_001714.1:p.(Thr2397Arg)	NC_000006.11:g.56481075G>C	VUS	1 lab	1380a8df1c
7:87041332 ABCB4 G>A	7	87041332	87041332	G	A	ABCB4	c.2801C>T	NM_018849.2	NP_061337.1:p.(Ala934Val)	NC_000007.13:g.87041332G>A	VUS	1 lab	13817c3f1f
12:88589319 TMTC3 G>A	12	88589319	88589319	G	A	TMTC3	c.2638G>A	NM_181783.3	NP_861448.2:p.(Glu880Lys)	NC_000012.11:g.88589319G>A	(Likely) benign	1 lab	1382d02635
12:13720020 GRIN2B A>C	12	13720020	13720020	A	C	GRIN2B	c.2537T>G	NM_000834.4	NP_000825.2:p.(Phe846Cys)	NC_000012.11:g.13720020A>C	VUS	1 lab	1382f76a8b
22:41920975 ACO2 G>A	22	41920975	41920975	G	A	ACO2	c.1605+3G>A	NM_001098.2	NP_001089.1:p.?	NC_000022.10:g.41920975G>A	(Likely) benign	1 lab	13841fb577
17:79478323 ACTG1 T>C	17	79478323	79478323	T	C	ACTG1	c.693A>G	NM_001199954.2	NP_001186883.1:p.(Ala231=)	NC_000017.10:g.79478323T>C	(Likely) benign	1 lab	1385668f98
6:24178663 DCDC2 G>C	6	24178663	24178663	G	C	DCDC2	c.1221C>G	NM_016356.4	NP_057440.2:p.(Gly407=)	NC_000006.11:g.24178663G>C	(Likely) benign	1 lab	1385d94bcb
16:1412311 GNPTG C>T	16	1412311	1412311	C	T	GNPTG	c.516C>T	NM_032520.4	NP_115909.1:p.(His172=)	NC_000016.9:g.1412311C>T	(Likely) benign	1 lab	1386221b4f
12:124826409 NCOR2 G>A	12	124826409	124826409	G	A	NCOR2	c.5148C>T	NM_006312.5	NP_006303.4:p.(Arg1716=)	NC_000012.11:g.124826409G>A	VUS	1 lab	138687ab4d
16:88787136 PIEZO1 C>G	16	88787136	88787136	C	G	PIEZO1	c.5689G>C	NM_001142864.4	NP_001136336.2:p.(Glu1897Gln)	NC_000016.9:g.88787136C>G	(Likely) benign	1 lab	1386947896
9:32542089 TOPORS G>A	9	32542089	32542089	G	A	TOPORS	c.2434C>T	NM_005802.4	NP_005793.2:p.(Pro812Ser)	NC_000009.11:g.32542089G>A	(Likely) benign	1 lab	1387f172ed
1:237862291 RYR2 T>G	1	237862291	237862291	T	G	RYR2	c.9094T>G	NM_001035.2	NP_001026.2:p.(Cys3032Gly)	NC_000001.10:g.237862291T>G	VUS	1 lab	1389abe8a7
16:87925469 CA5A G>A	16	87925469	87925469	G	A	CA5A	c.710C>T	NM_001367225.1	NP_001354154.1:p.(Pro237Leu)	NC_000016.9:g.87925469G>A	VUS	1 lab	138c851a0d
6:152722278 SYNE1 C>T	6	152722278	152722278	C	T	SYNE1	c.7024G>A	NM_182961.3	NP_892006.3:p.(Val2342Ile)	NC_000006.11:g.152722278C>T	(Likely) benign	1 lab	138d616bc2
11:64575144 MEN1 C>G	11	64575144	64575144	C	G	MEN1	c.678G>C	NM_130803.2	NP_570715.1:p.(Leu226=)	NC_000011.9:g.64575144C>G	(Likely) benign	1 lab	13902919e2
2:160918832 PLA2R1 G>A	2	160918832	160918832	G	A	PLA2R1	c.83C>T	NM_007366.5	NP_031392.3:p.(Thr28Ile)	NC_000002.11:g.160918832G>A	(Likely) benign	1 lab	1391258a9e
20:34090236 CEP250 C>T	20	34090236	34090236	C	T	CEP250	c.4039C>T	NM_007186.5	NP_009117.2:p.(Gln1347Ter)	NC_000020.10:g.34090236C>T	(Likely) pathogenic	1 lab	1391284136
1:111667381 DRAM2 T>C	1	111667381	111667381	T	C	DRAM2	c.322A>G	NM_001349881.1	NP_001336810.1:p.(Ile108Val)	NC_000001.10:g.111667381T>C	VUS	1 lab	1394a16db9
13:32954148 BRCA2 C>CA	13	32954148	32954149	C	CA	BRCA2	c.9123dup	NM_000059.3	NP_000050.2:p.(Asp3042ArgfsTer2)	NC_000013.10:g.32954149dup	(Likely) pathogenic	1 lab	1395a43701
X:75649398 MAGEE1 A>G	X	75649398	75649398	A	G	MAGEE1	c.1075A>G	NM_020932.2	NP_065983.1:p.(Ile359Val)	NC_000023.10:g.75649398A>G	VUS	1 lab	1398ac4b75
1:242030355 EXO1 G>A	1	242030355	242030355	G	A	EXO1	c.1265G>A	NM_130398.3	NP_569082.2:p.(Ser422Asn)	NC_000001.10:g.242030355G>A	(Likely) benign	1 lab	13994f3f43
1:1221011 SCNN1D C>A	1	1221011	1221011	C	A	SCNN1D	c.525C>A	NM_001130413.3	NP_001123885.2:p.(Pro175=)	NC_000001.10:g.1221011C>A	(Likely) benign	1 lab	1399e43b8a
12:4387926 CCND2 G>C	12	4387926	4387926	G	C	CCND2	c.412G>C	NM_001759.3	NP_001750.1:p.(Glu138Gln)	NC_000012.11:g.4387926G>C	VUS	1 lab	139b09cf8a
9:133932307 LAMC3 G>A	9	133932307	133932307	G	A	LAMC3	c.1940-9G>A	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133932307G>A	(Likely) benign	1 lab	139bc242c4
2:26683543 OTOF T>G	2	26683543	26683543	T	G	OTOF	c.5785A>C	NM_194248.2	NP_919224.1:p.(Asn1929His)	NC_000002.11:g.26683543T>G	VUS	1 lab	139dd4226b
1:45407190 EIF2B3 T>C	1	45407190	45407190	T	C	EIF2B3	c.442A>G	NM_020365.4	NP_065098.1:p.(Lys148Glu)	NC_000001.10:g.45407190T>C	VUS	1 lab	139f28c9e6
15:34109128 RYR3 C>T	15	34109128	34109128	C	T	RYR3	c.10568C>T	NM_001036.4	NP_001027.3:p.(Ser3523Phe)	NC_000015.9:g.34109128C>T	(Likely) benign	1 lab	13a031921a
11:117265193 CEP164 G>A	11	117265193	117265193	G	A	CEP164	c.2744G>A	NM_014956.4	NP_055771.4:p.(Arg915His)	NC_000011.9:g.117265193G>A	VUS	1 lab	13a181dee7
X:124454255 TEX13C A>C	X	124454255	124454255	A	C	TEX13C	c.287A>C	NM_001195272.2	NP_001182201.1:p.(His96Pro)	NC_000023.10:g.124454255A>C	(Likely) benign	1 lab	13a187c5da
2:179540491 TTN T>C	2	179540491	179540491	T	C	TTN	c.34454-10A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179540491T>C	(Likely) benign	1 lab	13a4bf5aa7
17:29527614 NF1 G>A	17	29527614	29527614	G	A	NF1	c.1062+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29527614G>A	(Likely) pathogenic	1 lab	13a5a41150
8:38172213 NSD3 A>G	8	38172213	38172213	A	G	NSD3	c.2194T>C	NM_023034.1	NP_075447.1:p.(Leu732=)	NC_000008.10:g.38172213A>G	(Likely) benign	1 lab	13a7bfb582
11:6411930 SMPD1 C>CCTGGCGCTGGCG	11	6411930	6411935	C	CCTGGCGCTGGCG	SMPD1	c.106_107insCGCTGGCGCTGG	NM_000543.4	NP_000534.3:p.(Leu35_Val36insAlaLeuAlaLeu)	NC_000011.9:g.6411934_6411935insCGCTGGCGCTGG	VUS	1 lab	13a7f4a4b1
1:84874162 DNASE2B A>T	1	84874162	84874162	A	T	DNASE2B	c.346A>T	NM_021233.2	NP_067056.2:p.(Lys116Ter)	NC_000001.10:g.84874162A>T	VUS	1 lab	13a803e0b1
6:139235897 REPS1 T>C	6	139235897	139235897	T	C	REPS1	c.1722A>G	NM_001286611.1	NP_001273540.1:p.(Gly574=)	NC_000006.11:g.139235897T>C	(Likely) benign	1 lab	13a901e611
11:68747906 MRGPRD C>T	11	68747906	68747906	C	T	MRGPRD	c.550G>A	NM_198923.2	NP_944605.2:p.(Ala184Thr)	NC_000011.9:g.68747906C>T	(Likely) benign	1 lab	13abf4c9dc
17:33510487 UNC45B G>C	17	33510487	33510487	G	C	UNC45B	c.2415G>C	NM_001033576.1	NP_001028748.1:p.(Lys805Asn)	NC_000017.10:g.33510487G>C	VUS	1 lab	13ac2a5eda
8:118825127 EXT1 AC>A	8	118825127	118825129	AC	A	EXT1	c.1705del	NM_000127.3	NP_000118.2:p.(Val569CysfsTer52)	NC_000008.10:g.118825129del	(Likely) pathogenic	1 lab	13aeabfadb
20:3687092 SIGLEC1 T>C	20	3687092	3687092	T	C	SIGLEC1	c.311A>G	NM_023068.4	NP_075556.1:p.(Asp104Gly)	NC_000020.10:g.3687092T>C	VUS	1 lab	13c7613a73
9:2643947 VLDLR C>G	9	2643947	2643947	C	G	VLDLR	c.1054C>G	NM_003383.4	NP_003374.3:p.(Leu352Val)	NC_000009.11:g.2643947C>G	VUS	1 lab	13afe0be2c
14:20916987 OSGEP G>A	14	20916987	20916987	G	A	OSGEP	c.558-17C>T	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20916987G>A	(Likely) benign	1 lab	13b13a980a
22:41573121 EP300 G>A	22	41573121	41573121	G	A	EP300	c.5406G>A	NM_001429.3	NP_001420.2:p.(Pro1802=)	NC_000022.10:g.41573121G>A	(Likely) benign	1 lab	13b1ace556
17:77758653 CBX2 C>G	17	77758653	77758653	C	G	CBX2	c.1411C>G	NM_005189.2	NP_005180.1:p.(Pro471Ala)	NC_000017.10:g.77758653C>G	(Likely) benign	1 lab	13b33b1780
14:75590896 NEK9 C>T	14	75590896	75590896	C	T	NEK9	c.250G>A	NM_001329237.1	NP_001316166.1:p.(Asp84Asn)	NC_000014.8:g.75590896C>T	(Likely) benign	1 lab	13b3a7626f
8:42725134 RNF170 G>A	8	42725134	42725134	G	A	RNF170	c.322+13C>T	NM_001160223.1	NP_001153695.1:p.?	NC_000008.10:g.42725134G>A	(Likely) benign	1 lab	13b3ca4c6b
2:150432277 MMADHC A>G	2	150432277	150432277	A	G	MMADHC	c.557T>C	NM_015702.2	NP_056517.1:p.(Met186Thr)	NC_000002.11:g.150432277A>G	VUS	1 lab	13b9c5d5de
4:103571717 MANBA T>G	4	103571717	103571717	T	G	MANBA	c.1846A>C	NM_005908.3	NP_005899.3:p.(Lys616Gln)	NC_000004.11:g.103571717T>G	(Likely) benign	1 lab	13ba4b2d9c
10:121436514 BAG3 G>A	10	121436514	121436514	G	A	BAG3	c.1448G>A	NM_004281.4	NP_004272.2:p.(Gly483Asp)	NC_000010.10:g.121436514G>A	VUS	1 lab	e2ffdd3054
5:98236751 CHD1 T>C	5	98236751	98236751	T	C	CHD1	c.623A>G	NM_001270.2	NP_001261.2:p.(Gln208Arg)	NC_000005.9:g.98236751T>C	(Likely) benign	1 lab	13bbf98f8f
19:32923707 DPY19L3 T>G	19	32923707	32923707	T	G	DPY19L3	c.323T>G	NM_207325.2	NP_997208.2:p.(Val108Gly)	NC_000019.9:g.32923707T>G	(Likely) benign	1 lab	13bc5274cd
2:15374851 NBAS A>G	2	15374851	15374851	A	G	NBAS	c.5964T>C	NM_015909.3	NP_056993.2:p.(Ser1988=)	NC_000002.11:g.15374851A>G	(Likely) benign	1 lab	13bcb1cb8e
1:9794171 CLSTN1 C>T	1	9794171	9794171	C	T	CLSTN1	c.2140G>A	NM_001009566.2	NP_001009566.1:p.(Val714Met)	NC_000001.10:g.9794171C>T	(Likely) benign	1 lab	13be64c3bc
X:71932783 PHKA1 C>CA	X	71932783	71932785	C	CA	PHKA1	c.79-5dup	NM_002637.3	NP_002628.2:p.?	NC_000023.10:g.71932785dup	(Likely) benign	1 lab	13bf206883
X:150869002 PRRG3 A>G	X	150869002	150869002	A	G	PRRG3	c.193A>G	NM_024082.3	NP_076987.3:p.(Asn65Asp)	NC_000023.10:g.150869002A>G	(Likely) benign	1 lab	13bf46fcf9
3:87309149 POU1F1 T>C	3	87309149	87309149	T	C	POU1F1	c.849A>G	NM_001122757.2	NP_001116229.1:p.(Val283=)	NC_000003.11:g.87309149T>C	VUS	1 lab	13bf694eb9
21:43796722 TMPRSS3 G>A	21	43796722	43796722	G	A	TMPRSS3	c.1122C>T	NM_024022.2	NP_076927.1:p.(Asp374=)	NC_000021.8:g.43796722G>A	(Likely) benign	1 lab	13c18f1649
X:114141222 HTR2C C>T	X	114141222	114141222	C	T	HTR2C	c.526C>T	NM_001256761.2	NP_001243690.1:p.(Arg176Cys)	NC_000023.10:g.114141222C>T	VUS	1 lab	13c27d1e0f
10:28225696 ODAD2 C>T	10	28225696	28225696	C	T	ODAD2	c.2211G>A	NM_001290020.1	NP_001276949.1:p.(Gly737=)	NC_000010.10:g.28225696C>T	(Likely) benign	1 lab	13c30684f2
5:167919820 RARS1 T>A	5	167919820	167919820	T	A	RARS1	c.337T>A	NM_002887.3	NP_002878.2:p.(Tyr113Asn)	NC_000005.9:g.167919820T>A	VUS	1 lab	13c66e23f9
15:62232958 VPS13C A>G	15	62232958	62232958	A	G	VPS13C	c.5489T>C	NM_001018088.2	NP_001018098.1:p.(Ile1830Thr)	NC_000015.9:g.62232958A>G	(Likely) benign	1 lab	13cad9b1a0
8:145577725 CATSPERQ G>A	8	145577725	145577725	G	A	CATSPERQ	c.331C>T	NM_001280561.1	NP_001267490.1:p.(Arg111Cys)	NC_000008.10:g.145577725G>A	VUS	1 lab	13cc007b87
X:54012324 PHF8 C>A	X	54012324	54012324	C	A	PHF8	c.2054G>T	NM_015107.2	NP_055922.1:p.(Gly685Val)	NC_000023.10:g.54012324C>A	(Likely) benign	1 lab	13d0466b2f
22:38122518 TRIOBP C>G	22	38122518	38122518	C	G	TRIOBP	c.3947+8C>G	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38122518C>G	(Likely) benign	1 lab	13d13ac113
1:235969313 LYST C>T	1	235969313	235969313	C	T	LYST	c.3123G>A	NM_001301365.1	NP_001288294.1:p.(Leu1041=)	NC_000001.10:g.235969313C>T	(Likely) benign	1 lab	13d1a373ee
2:198353225 HSPD1 A>G	2	198353225	198353225	A	G	HSPD1	c.1216-10T>C	NM_199440.1	NP_955472.1:p.?	NC_000002.11:g.198353225A>G	VUS	1 lab	13d4bc0cd1
18:42643382 SETBP1 A>T	18	42643382	42643382	A	T	SETBP1	c.4510A>T	NM_015559.3	NP_056374.2:p.(Thr1504Ser)	NC_000018.9:g.42643382A>T	(Likely) benign	1 lab	13d583f77b
7:72721730 NSUN5 CCAA>C	7	72721730	72721740	CCAA	C	NSUN5	c.238_240del	NM_148956.4	NP_683759.1:p.(Leu80del)	NC_000007.13:g.72721738_72721740del	(Likely) benign	1 lab	13d5ba41b5
19:14038849 CC2D1A A>AC	19	14038849	14038855	A	AC	CC2D1A	c.2454+12dup	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14038855dup	(Likely) benign	1 lab	13d5d91bf6
20:44052964 PIGT G>A	20	44052964	44052964	G	A	PIGT	c.1343G>A	NM_015937.6	NP_057021.2:p.(Arg448Gln)	NC_000020.10:g.44052964G>A	VUS	1 lab	e300cb83b0
2:48027926 MSH6 C>CT	2	48027926	48027927	C	CT	MSH6	c.2805dup	NM_000179.2	NP_000170.1:p.(Asp936Ter)	NC_000002.11:g.48027927dup	(Likely) pathogenic	1 lab	13d7420261
17:4389608 SPNS3 A>G	17	4389608	4389608	A	G	SPNS3	c.1265A>G	NM_182538.5	NP_872344.3:p.(Tyr422Cys)	NC_000017.10:g.4389608A>G	VUS	1 lab	13d7b71a29
7:21939735 DNAH11 GA>G	7	21939735	21939736	GA	G	DNAH11	c.13301del	NM_001277115.2	NP_001264044.1:p.(Glu4434GlyfsTer52)	NC_000007.13:g.21939736del	(Likely) pathogenic	1 lab	13db6596aa
7:149561364 ZNF862 G>A	7	149561364	149561364	G	A	ZNF862	c.3501G>A	NM_001099220.2	NP_001092690.1:p.(Gly1167=)	NC_000007.13:g.149561364G>A	(Likely) benign	1 lab	13db74c885
X:65242332 VSIG4 T>A	X	65242332	65242332	T	A	VSIG4	c.973A>T	NM_007268.2	NP_009199.1:p.(Arg325Ter)	NC_000023.10:g.65242332T>A	(Likely) benign	1 lab	13dca9466c
1:170695472 PRRX1 C>CA	1	170695472	170695473	C	CA	PRRX1	c.530dup	NM_006902.4	NP_008833.1:p.(Pro178AlafsTer38)	NC_000001.10:g.170695473dup	VUS	1 lab	13ddcc1083
12:6030430 ANO2 C>A	12	6030430	6030430	C	A	ANO2	c.298G>T	NM_001278597.3	NP_001265526.1:p.(Ala100Ser)	NC_000012.11:g.6030430C>A	(Likely) benign	1 lab	13ddd1dc09
17:78021173 CCDC40 C>T	17	78021173	78021173	C	T	CCDC40	c.648C>T	NM_017950.3	NP_060420.2:p.(Asp216=)	NC_000017.10:g.78021173C>T	(Likely) benign	1 lab	13de96b139
8:10480234 RP1L1 T>C	8	10480234	10480234	T	C	RP1L1	c.478A>G	NM_178857.5	NP_849188.4:p.(Met160Val)	NC_000008.10:g.10480234T>C	VUS	1 lab	13df4b3ac6
17:78321336 RNF213 G>T	17	78321336	78321336	G	T	RNF213	c.9201G>T	NM_001256071.2	NP_001243000.2:p.(Glu3067Asp)	NC_000017.10:g.78321336G>T	VUS	1 lab	13df98acd9
10:55849806 PCDH15 T>A	10	55849806	55849806	T	A	PCDH15				NC_000010.10:g.55849806T>A	(Likely) benign	1 lab	13e09b6853
4:15599021 CC2D2A C>A	4	15599021	15599021	C	A	CC2D2A	c.4438-9C>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15599021C>A	(Likely) benign	1 lab	13e2654350
3:184052537 EIF4G1 C>T	3	184052537	184052537	C	T	EIF4G1	c.4644C>T	NM_182917.4	NP_886553.3:p.(Asp1548=)	NC_000003.11:g.184052537C>T	(Likely) benign	1 lab	13e2e52d83
11:76893185 MYO7A C>T	11	76893185	76893185	C	T	MYO7A	c.3093C>T	NM_000260.3	NP_000251.3:p.(Asp1031=)	NC_000011.9:g.76893185C>T	(Likely) benign	1 lab	13e5c6b6ce
1:41304093 KCNQ4 C>G	1	41304093	41304093	C	G	KCNQ4	c.1986C>G	NM_004700.3	NP_004691.2:p.(Pro662=)	NC_000001.10:g.41304093C>G	(Likely) benign	1 lab	13e6100a61
X:92965084 FAM133A A>AAAGAAG	X	92965084	92965101	A	AAAGAAG	FAM133A	c.678_683dup	NM_001171110.1	NP_001164581.1:p.(Lys227_Lys228dup)	NC_000023.10:g.92965096_92965101dup	VUS	1 lab	13e663bd21
19:36223362 KMT2B A>G	19	36223362	36223362	A	G	KMT2B	c.5912A>G	NM_014727.2	NP_055542.1:p.(Glu1971Gly)	NC_000019.9:g.36223362A>G	VUS	1 lab	13e681eaa8
5:149756101 TCOF1 A>G	5	149756101	149756101	A	G	TCOF1	c.2258A>G	NM_001135243.1	NP_001128715.1:p.(Gln753Arg)	NC_000005.9:g.149756101A>G	(Likely) benign	1 lab	13e73a915d
12:56114999 RDH5 C>T	12	56114999	56114999	C	T	RDH5	c.31C>T	NM_001199771.1	NP_001186700.1:p.(Leu11Phe)	NC_000012.11:g.56114999C>T	(Likely) benign	1 lab	13e79c664e
3:9792731 OGG1 A>G	3	9792731	9792731	A	G	OGG1	c.240A>G	NM_016828.2	NP_058437.1:p.(Gly80=)	NC_000003.11:g.9792731A>G	(Likely) benign	1 lab	13e898d7d3
16:2136180 TSC2 C>T	16	2136180	2136180	C	T	TSC2	c.4663-14C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136180C>T	(Likely) benign	1 lab	14ee998df3
2:145147465 ZEB2 G>GT	2	145147465	145147466	G	GT	ZEB2	c.3197dup	NM_014795.4	NP_055610.1:p.(His1066GlnfsTer58)	NC_000002.11:g.145147466dup	(Likely) pathogenic	1 lab	e3040a1fa6
X:9469819 TBL1X G>T	X	9469819	9469819	G	T	TBL1X	c.-200-1G>T	NM_005647.3	NP_005638.1:p.?	NC_000023.10:g.9469819G>T	VUS	1 lab	13ea11cc9d
14:74960521 ISCA2 G>C	14	74960521	74960521	G	C	ISCA2	c.44G>C	NM_194279.3	NP_919255.2:p.(Arg15Thr)	NC_000014.8:g.74960521G>C	(Likely) benign	1 lab	13ea6172c1
1:5935027 NPHP4 G>A	1	5935027	5935027	G	A	NPHP4	c.2951C>T	NM_015102.4	NP_055917.1:p.(Thr984Met)	NC_000001.10:g.5935027G>A	VUS	1 lab	13ebed9a48
20:44048986 PIGT C>T	20	44048986	44048986	C	T	PIGT	c.784C>T	NM_015937.6	NP_057021.2:p.(Arg262Trp)	NC_000020.10:g.44048986C>T	VUS	1 lab	e30518885d
X:48935527 WDR45 G>A	X	48935527	48935527	G	A	WDR45	c.99C>T	NM_007075.3	NP_009006.2:p.(Asn33=)	NC_000023.10:g.48935527G>A	(Likely) benign	1 lab	13ed599cc9
X:106841193 FRMPD3 G>A	X	106841193	106841193	G	A	FRMPD3	c.2183G>A	NM_032428.2	NP_115804.1:p.(Arg728His)	NC_000023.10:g.106841193G>A	VUS	1 lab	13ee056f19
12:108912593 FICD C>T	12	108912593	108912593	C	T	FICD	c.718C>T	NM_007076.3	NP_009007.2:p.(Leu240Phe)	NC_000012.11:g.108912593C>T	VUS	1 lab	e3056388d2
16:70889114 HYDIN G>A	16	70889114	70889114	G	A	HYDIN	c.12360C>T	NM_001270974.2	NP_001257903.1:p.(Phe4120=)	NC_000016.9:g.70889114G>A	(Likely) benign	1 lab	13f3b21181
15:62277069 VPS13C C>T	15	62277069	62277069	C	T	VPS13C	c.1708G>A	NM_001018088.2	NP_001018098.1:p.(Ala570Thr)	NC_000015.9:g.62277069C>T	VUS	1 lab	13f4baeb3e
5:64084814 CWC27 G>A	5	64084814	64084814	G	A	CWC27	c.636G>A	NM_001318000.1	NP_001304929.1:p.(Glu212=)	NC_000005.9:g.64084814G>A	(Likely) benign	1 lab	13f66bbbf4
18:56203891 ALPK2 G>T	18	56203891	56203891	G	T	ALPK2	c.3528C>A	NM_052947.4	NP_443179.3:p.(Pro1176=)	NC_000018.9:g.56203891G>T	(Likely) benign	1 lab	13f91299d5
11:44286605 ALX4 G>A	11	44286605	44286605	G	A	ALX4	c.1035C>T	NM_021926.4	NP_068745.2:p.(Ser345=)	NC_000011.9:g.44286605G>A	(Likely) benign	1 lab	13fa96be6b
21:42843822 TMPRSS2 T>C	21	42843822	42843822	T	C	TMPRSS2	c.1097A>G	NM_001135099.1	NP_001128571.1:p.(Glu366Gly)	NC_000021.8:g.42843822T>C	(Likely) benign	1 lab	13fe1db618
X:130408662 IGSF1 A>G	X	130408662	130408662	A	G	IGSF1	c.3677T>C	NM_001170961.1	NP_001164432.1:p.(Ile1226Thr)	NC_000023.10:g.130408662A>G	VUS	1 lab	14027807f1
8:61767083 CHD7 G>A	8	61767083	61767083	G	A	CHD7				NC_000008.10:g.61767083G>A	(Likely) pathogenic	1 lab	140464eb2c
18:43505803 EPG5 C>T	18	43505803	43505803	C	T	EPG5	c.2619G>A	NM_020964.3	NP_066015.2:p.(Ala873=)	NC_000018.9:g.43505803C>T	(Likely) benign	1 lab	140518b9cf
10:7773836 ITIH2 A>G	10	7773836	7773836	A	G	ITIH2	c.1524A>G	NM_002216.3	NP_002207.2:p.(Thr508=)	NC_000010.10:g.7773836A>G	(Likely) benign	1 lab	14055a6935
X:47426444 ARAF G>A	X	47426444	47426444	G	A	ARAF	c.796G>A	NM_001256196.1	NP_001243125.1:p.(Val266Met)	NC_000023.10:g.47426444G>A	(Likely) benign	1 lab	1405601901
16:2149696 PKD1 G>A	16	2149696	2149696	G	A	PKD1	c.9999C>T	NM_001009944.2	NP_001009944.2:p.(Val3333=)	NC_000016.9:g.2149696G>A	(Likely) benign	1 lab	14057f85af
22:38136968 TRIOBP C>T	22	38136968	38136968	C	T	TRIOBP	c.5251C>T	NM_001039141.2	NP_001034230.1:p.(Arg1751Trp)	NC_000022.10:g.38136968C>T	VUS	1 lab	140652bf9a
13:103508405 ERCC5 A>G	13	103508405	103508405	A	G	ERCC5	c.471A>G	NM_000123.3	NP_000114.2:p.(Ser157=)	NC_000013.10:g.103508405A>G	(Likely) benign	1 lab	1406c11a4c
X:112022717 AMOT C>T	X	112022717	112022717	C	T	AMOT	c.2665G>A	NM_001113490.1	NP_001106962.1:p.(Ala889Thr)	NC_000023.10:g.112022717C>T	VUS	1 lab	140726a768
14:64691744 SYNE2 G>A	14	64691744	64691744	G	A	SYNE2	c.20497G>A	NM_182914.2	NP_878918.2:p.(Glu6833Lys)	NC_000014.8:g.64691744G>A	(Likely) benign	1 lab	14079cf4b1
15:91354536 BLM T>A	15	91354536	91354536	T	A	BLM	c.2851T>A	NM_001287248.1	NP_001274177.1:p.(Phe951Ile)	NC_000015.9:g.91354536T>A	VUS	1 lab	140929a2e7
5:159996502 ATP10B C>T	5	159996502	159996502	C	T	ATP10B	c.3938+1G>A	NM_025153.3	NP_079429.2:p.?	NC_000005.9:g.159996502C>T	VUS	1 lab	14095d4ae7
17:29685660 NF1 GA>G	17	29685660	29685662	GA	G	NF1	c.8113+22del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29685662del	(Likely) benign	1 lab	140980c3ae
20:60899506 LAMA5 G>A	20	60899506	60899506	G	A	LAMA5	c.5634C>T	NM_005560.4	NP_005551.3:p.(Gly1878=)	NC_000020.10:g.60899506G>A	(Likely) benign	1 lab	1409f1ecd3
16:28777701 NPIPB9 C>T	16	28777701	28777701	C	T	NPIPB9	c.481C>T	NM_001287251.1	NP_001274180.1:p.(Arg161Trp)	NC_000016.9:g.28777701C>T	(Likely) benign	1 lab	140a674787
14:50649235 SOS2 A>G	14	50649235	50649235	A	G	SOS2	c.804T>C	NM_006939.3	NP_008870.2:p.(Thr268=)	NC_000014.8:g.50649235A>G	(Likely) benign	1 lab	140aaeac67
10:74660151 OIT3 C>T	10	74660151	74660151	C	T	OIT3	c.453C>T	NM_152635.2	NP_689848.1:p.(Cys151=)	NC_000010.10:g.74660151C>T	(Likely) benign	1 lab	140acd9137
17:39726201 KRT9 C>G	17	39726201	39726201	C	G	KRT9	c.792G>C	NM_000226.3	NP_000217.2:p.(Leu264=)	NC_000017.10:g.39726201C>G	(Likely) benign	1 lab	140b593b3e
18:67697235 RTTN C>A	18	67697235	67697235	C	A	RTTN	c.5745+13G>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67697235C>A	(Likely) benign	1 lab	140b7cb79b
1:1636027 CDK11A T>C	1	1636027	1636027	T	C	CDK11A	c.1526A>G	NM_024011.3	NP_076916.2:p.(Lys509Arg)	NC_000001.10:g.1636027T>C	(Likely) benign	1 lab	140cbadc44
16:58585542 CNOT1 G>A	16	58585542	58585542	G	A	CNOT1	c.3137C>T	NM_001265612.2	NP_001252541.1:p.(Thr1046Met)	NC_000016.9:g.58585542G>A	VUS	1 lab	e30954251a
1:237824125 RYR2 C>T	1	237824125	237824125	C	T	RYR2	c.8314C>T	NM_001035.2	NP_001026.2:p.(Arg2772Cys)	NC_000001.10:g.237824125C>T	VUS	1 lab	140e1065b3
1:29528541 MECR G>A	1	29528541	29528541	G	A	MECR	c.442C>T	NM_001349712.1	NP_001336641.1:p.(Leu148=)	NC_000001.10:g.29528541G>A	(Likely) benign	1 lab	1410e65bf2
17:26084309 NOS2 G>A	17	26084309	26084309	G	A	NOS2	c.3425C>T	NM_000625.4	NP_000616.3:p.(Ala1142Val)	NC_000017.10:g.26084309G>A	(Likely) benign	1 lab	141413bc66
X:153296226 MECP2 G>C	X	153296226	153296226	G	C	MECP2	c.1053C>G	NM_004992.3	NP_004983.1:p.(Pro351=)	NC_000023.10:g.153296226G>C	(Likely) benign	1 lab	14144ec1b7
8:100133548 VPS13B G>A	8	100133548	100133548	G	A	VPS13B	c.1081G>A	NM_017890.4	NP_060360.3:p.(Asp361Asn)	NC_000008.10:g.100133548G>A	(Likely) benign	1 lab	14152c6742
14:91780282 CCDC88C C>G	14	91780282	91780282	C	G	CCDC88C	c.1878G>C	NM_001080414.3	NP_001073883.2:p.(Lys626Asn)	NC_000014.8:g.91780282C>G	VUS	1 lab	1416694b7c
X:152037515 NSDHL C>T	X	152037515	152037515	C	T	NSDHL	c.977C>T	NM_015922.3	NP_057006.1:p.(Pro326Leu)	NC_000023.10:g.152037515C>T	VUS	1 lab	e311732046
11:65423236 RELA G>A	11	65423236	65423236	G	A	RELA	c.959-3C>T	NM_021975.3	NP_068810.3:p.?	NC_000011.9:g.65423236G>A	(Likely) benign	1 lab	141754509a
X:11783768 MSL3 G>A	X	11783768	11783768	G	A	MSL3	c.1091G>A	NM_078628.1	NP_523352.1:p.(Ser364Asn)	NC_000023.10:g.11783768G>A	VUS	1 lab	141a99d403
14:23896058 MYH7 G>C	14	23896058	23896058	G	C	MYH7	c.1972C>G	NM_000257.2	NP_000248.2:p.(Leu658Val)	NC_000014.8:g.23896058G>C	(Likely) pathogenic	1 lab	141b07a02d
X:128645937 SMARCA1 T>C	X	128645937	128645937	T	C	SMARCA1	c.654A>G	NM_003069.4	NP_003060.2:p.(Thr218=)	NC_000023.10:g.128645937T>C	(Likely) benign	1 lab	141b3cd551
16:2134546 TSC2 C>T	16	2134546	2134546	C	T	TSC2	c.4254C>T	NM_001114382.2	NP_001107854.1:p.(Pro1418=)	NC_000016.9:g.2134546C>T	(Likely) benign	1 lab	141b4d6fdf
17:42428797 GRN C>T	17	42428797	42428797	C	T	GRN	c.902C>T	NM_002087.2	NP_002078.1:p.(Ser301Leu)	NC_000017.10:g.42428797C>T	(Likely) benign	1 lab	141b6abc9f
10:114198146 ZDHHC6 A>C	10	114198146	114198146	A	C	ZDHHC6	c.683T>G	NM_022494.3	NP_071939.1:p.(Met228Arg)	NC_000010.10:g.114198146A>C	VUS	1 lab	141b8a5330
10:12148401 DHTKD1 T>C	10	12148401	12148401	T	C	DHTKD1	c.2047+6T>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12148401T>C	VUS	1 lab	e34d4bf6d1
12:116421133 MED13L A>T	12	116421133	116421133	A	T	MED13L	c.4744T>A	NM_015335.4	NP_056150.1:p.(Ser1582Thr)	NC_000012.11:g.116421133A>T	(Likely) benign	1 lab	141ba65d94
19:42474531 ATP1A3 A>T	19	42474531	42474531	A	T	ATP1A3	c.2457+9T>A	NM_001256214.1	NP_001243143.1:p.?	NC_000019.9:g.42474531A>T	(Likely) benign	1 lab	141c1c6a33
21:47817314 PCNT G>A	21	47817314	47817314	G	A	PCNT	c.4352G>A	NM_006031.5	NP_006022.3:p.(Arg1451His)	NC_000021.8:g.47817314G>A	(Likely) benign	1 lab	141d4b3b35
16:2134477 TSC2 AC>A	16	2134477	2134478	AC	A	TSC2	c.4255del	NM_000548.5	NP_000539.2:p.(Gln1419SerfsTer57)	NC_000016.9:g.2134478del	(Likely) pathogenic	1 lab	141d946a6e
17:56283508 MKS1 G>A	17	56283508	56283508	G	A	MKS1	c.1612C>T	NM_017777.3	NP_060247.2:p.(Arg538Cys)	NC_000017.10:g.56283508G>A	VUS	1 lab	141d986cd4
21:46899842 COL18A1 C>T	21	46899842	46899842	C	T	COL18A1	c.1275C>T	NM_130445.2	NP_569712.2:p.(Pro425=)	NC_000021.8:g.46899842C>T	(Likely) benign	1 lab	141ed52276
8:95850861 INTS8 G>A	8	95850861	95850861	G	A	INTS8	c.1017+15G>A	NM_017864.3	NP_060334.2:p.?	NC_000008.10:g.95850861G>A	(Likely) benign	1 lab	1420e124c5
8:2064067 MYOM2 A>G	8	2064067	2064067	A	G	MYOM2	c.3383A>G	NM_003970.4	NP_003961.3:p.(Gln1128Arg)	NC_000008.10:g.2064067A>G	VUS	1 lab	e314f5fb1f
11:108142006 ATM C>G	11	108142006	108142006	C	G	ATM	c.2950C>G	NM_001351834.2	NP_001338763.1:p.(Gln984Glu)	NC_000011.9:g.108142006C>G	VUS	1 lab	e31577ea3b
8:97172673 GDF6 T>A	8	97172673	97172673	T	A	GDF6	c.248A>T	NM_001001557.3	NP_001001557.1:p.(Gln83Leu)	NC_000008.10:g.97172673T>A	VUS	1 lab	1421c17f11
7:42003919 GLI3 T>C	7	42003919	42003919	T	C	GLI3	c.*9A>G	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42003919T>C	(Likely) benign	1 lab	1421e51980
X:47078062 CDK16 A>C	X	47078062	47078062	A	C	CDK16	c.11A>C	NM_033018.3	NP_148978.2:p.(Glu4Ala)	NC_000023.10:g.47078062A>C	(Likely) benign	1 lab	14221ae962
16:88494348 ZNF469 G>A	16	88494348	88494348	G	A	ZNF469				NC_000016.9:g.88494348G>A	(Likely) benign	1 lab	25e5b88554
19:33878282 PEPD T>TGTCACAGCCTGCCATGCATGCTTCAATCG	19	33878282	33878311	T	TGTCACAGCCTGCCATGCATGCTTCAATCG	PEPD	c.1449_1450insCGATTGAAGCATGCATGGCAGGCTGTGAC	NM_000285.3	NP_000276.2:p.(Lys484ArgfsTer64)	NC_000019.9:g.33878310_33878311insGGTCACAGCCTGCCATGCATGCTTCAATC	VUS	1 lab	14245c2401
11:120348856 ARHGEF12 A>G	11	120348856	120348856	A	G	ARHGEF12	c.3533-9A>G	NM_015313.2	NP_056128.1:p.?	NC_000011.9:g.120348856A>G	(Likely) benign	1 lab	142637caa4
13:114551026 GAS6 G>A	13	114551026	114551026	G	A	GAS6	c.256-3C>T	NM_000820.3	NP_000811.1:p.?	NC_000013.10:g.114551026G>A	(Likely) benign	1 lab	1428360965
9:6536219 GLDC T>C	9	6536219	6536219	T	C	GLDC	c.2683A>G	NM_000170.2	NP_000161.2:p.(Met895Val)	NC_000009.11:g.6536219T>C	VUS	1 lab	382844b45a
11:8123034 TUB G>A	11	8123034	8123034	G	A	TUB	c.1554G>A	NM_003320.4	NP_003311.2:p.(Pro518=)	NC_000011.9:g.8123034G>A	(Likely) benign	1 lab	1429dfb772
21:45712980 AIRE G>A	21	45712980	45712980	G	A	AIRE				NC_000021.8:g.45712980G>A	(Likely) benign	1 lab	142a1848e0
3:183861951 EIF2B5 C>T	3	183861951	183861951	C	T	EIF2B5	c.1934C>T	NM_003907.3	NP_003898.2:p.(Ala645Val)	NC_000003.11:g.183861951C>T	VUS	1 lab	142b174b49
17:73747106 ITGB4 C>T	17	73747106	73747106	C	T	ITGB4	c.3707C>T	NM_000213.4	NP_000204.3:p.(Thr1236Ile)	NC_000017.10:g.73747106C>T	VUS	1 lab	142d5fd861
X:39922119 BCOR G>A	X	39922119	39922119	G	A	BCOR	c.4053C>T	NM_001123385.1	NP_001116857.1:p.(Thr1351=)	NC_000023.10:g.39922119G>A	(Likely) benign	1 lab	142db2bb40
5:35875593 IL7R A>T	5	35875593	35875593	A	T	IL7R	c.801-21A>T	NM_002185.5	NP_002176.2:p.?	NC_000005.9:g.35875593A>T	(Likely) benign	1 lab	e3228f4bc5
1:38019747 SNIP1 C>T	1	38019747	38019747	C	T	SNIP1	c.84G>A	NM_024700.4	NP_078976.2:p.(Val28=)	NC_000001.10:g.38019747C>T	(Likely) benign	1 lab	e3229430b6
16:15809038 MYH11 C>T	16	15809038	15809038	C	T	MYH11	c.5617G>A	NM_001040113.1	NP_001035202.1:p.(Glu1873Lys)	NC_000016.9:g.15809038C>T	VUS	1 lab	14306b4a4f
X:35820653 MAGEB16 G>A	X	35820653	35820653	G	A	MAGEB16	c.340G>A	NM_001099921.1	NP_001093391.1:p.(Asp114Asn)	NC_000023.10:g.35820653G>A	(Likely) benign	1 lab	14306f9563
9:133907449 LAMC3 C>T	9	133907449	133907449	C	T	LAMC3	c.696C>T	NM_006059.3	NP_006050.3:p.(Thr232=)	NC_000009.11:g.133907449C>T	(Likely) benign	1 lab	143091fda2
8:124382185 ATAD2 GTCA>G	8	124382185	124382202	GTCA	G	ATAD2	c.804_806del	NM_014109.4	NP_054828.2:p.(Asp277del)	NC_000008.10:g.124382200_124382202del	VUS	1 lab	1431f5a9bc
3:128627057 ACAD9 C>T	3	128627057	128627057	C	T	ACAD9	c.1308C>T	NM_014049.4	NP_054768.2:p.(Ile436=)	NC_000003.11:g.128627057C>T	(Likely) benign	1 lab	1432a54c70
1:91405567 ZNF644 A>G	1	91405567	91405567	A	G	ZNF644	c.1344T>C	NM_201269.2	NP_958357.1:p.(Tyr448=)	NC_000001.10:g.91405567A>G	(Likely) benign	1 lab	1433fa31aa
X:64141701 ZC4H2 T>C	X	64141701	64141701	T	C	ZC4H2	c.221A>G	NM_018684.4	NP_061154.1:p.(Asn74Ser)	NC_000023.10:g.64141701T>C	VUS	1 lab	e324f2b3c2
11:47371363 MYBPC3 G>C	11	47371363	47371363	G	C	MYBPC3	c.616C>G	NM_000256.3	NP_000247.2:p.(His206Asp)	NC_000011.9:g.47371363G>C	VUS	1 lab	1435187b0f
17:56056604 VEZF1 TTGCTGCTGCTGC>T	17	56056604	56056644	TTGCTGCTGCTGC	T	VEZF1	c.1035_1046del	NM_007146.3	NP_009077.2:p.(Gln351_Gln354del)	NC_000017.10:g.56056633_56056644del	VUS	1 lab	1435198f04
X:153490580 OPN1MW2 G>A	X	153490580	153490580	G	A	OPN1MW2	c.316G>A	NM_001048181.2	NP_001041646.1:p.(Ala106Thr)	NC_000023.10:g.153490580G>A	VUS	1 lab	14378a3bf6
17:29657433 NF1 C>CT	17	29657433	29657434	C	CT	NF1	c.5667dup	NM_000267.3	NP_000258.1:p.(Ile1890TyrfsTer2)	NC_000017.10:g.29657434dup	(Likely) pathogenic	1 lab	143a19bae9
17:80714086 TBCD A>G	17	80714086	80714086	A	G	TBCD	c.230A>G	NM_005993.4	NP_005984.3:p.(His77Arg)	NC_000017.10:g.80714086A>G	VUS	1 lab	143aeaa0f4
20:13769298 NDUFAF5 G>C	20	13769298	13769298	G	C	NDUFAF5	c.327G>C	NM_024120.4	NP_077025.2:p.(Lys109Asn)	NC_000020.10:g.13769298G>C	VUS	1 lab	143bdd059d
17:39421906 KRTAP9-6 T>A	17	39421906	39421906	T	A	KRTAP9-6	c.277T>A	NM_001277331.1	NP_001264260.1:p.(Ser93Thr)	NC_000017.10:g.39421906T>A	(Likely) benign	1 lab	143c0e7007
1:161180502 NDUFS2 TA>T	1	161180502	161180504	TA	T	NDUFS2	c.986+4del	NM_001377299.1	NP_001364228.1:p.?	NC_000001.10:g.161180504del	VUS	1 lab	143ca1dfc5
20:1963625 PDYN C>A	20	1963625	1963625	C	A	PDYN	c.106G>T	NM_024411.4	NP_077722.1:p.(Gly36Cys)	NC_000020.10:g.1963625C>A	(Likely) benign	1 lab	143d2a1a96
9:107549191 ABCA1 C>T	9	107549191	107549191	C	T	ABCA1	c.6271G>A	NM_005502.3	NP_005493.2:p.(Val2091Ile)	NC_000009.11:g.107549191C>T	(Likely) benign	1 lab	143dac0042
1:152280043 FLG C>G	1	152280043	152280043	C	G	FLG	c.7319G>C	NM_002016.1	NP_002007.1:p.(Gly2440Ala)	NC_000001.10:g.152280043C>G	(Likely) benign	1 lab	14402d20e6
15:72106420 NR2E3 C>G	15	72106420	72106420	C	G	NR2E3	c.1062C>G	NM_016346.3	NP_057430.1:p.(Ser354Arg)	NC_000015.9:g.72106420C>G	(Likely) benign	1 lab	1440f22b2f
3:130116456 COL6A5 G>A	3	130116456	130116456	G	A	COL6A5	c.3598G>A	NM_001278298.1	NP_001265227.1:p.(Asp1200Asn)	NC_000003.11:g.130116456G>A	VUS	1 lab	1442178e31
18:21523792 LAMA3 G>A	18	21523792	21523792	G	A	LAMA3	c.9067G>A	NM_198129.2	NP_937762.2:p.(Gly3023Arg)	NC_000018.9:g.21523792G>A	VUS	1 lab	1443eeef76
1:214557400 PTPN14 G>T	1	214557400	214557400	G	T	PTPN14	c.1798C>A	NM_005401.4	NP_005392.2:p.(Arg600=)	NC_000001.10:g.214557400G>T	(Likely) benign	1 lab	144474549c
X:152818698 ATP2B3 G>A	X	152818698	152818698	G	A	ATP2B3	c.2029G>A	NM_021949.3	NP_068768.2:p.(Val677Met)	NC_000023.10:g.152818698G>A	VUS	1 lab	14454ee83a
16:70906092 HYDIN A>G	16	70906092	70906092	A	G	HYDIN	c.10949-10T>C	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70906092A>G	(Likely) benign	1 lab	1446f3d223
4:6612945 MAN2B2 C>T	4	6612945	6612945	C	T	MAN2B2	c.2503C>T	NM_015274.3	NP_056089.1:p.(Arg835Cys)	NC_000004.11:g.6612945C>T	VUS	1 lab	e328478415
20:25060079 VSX1 G>T	20	25060079	25060079	G	T	VSX1	c.496C>A	NM_001256272.1	NP_001243201.1:p.(Arg166=)	NC_000020.10:g.25060079G>T	(Likely) benign	1 lab	1448746f83
2:27446526 CAD A>C	2	27446526	27446526	A	C	CAD	c.905A>C	NM_004341.4	NP_004332.2:p.(Asp302Ala)	NC_000002.11:g.27446526A>C	VUS	1 lab	144a6ff5ab
X:109560995 AMMECR1 G>A	X	109560995	109560995	G	A	AMMECR1	c.305C>T	NM_015365.2	NP_056180.1:p.(Ala102Val)	NC_000023.10:g.109560995G>A	(Likely) benign	1 lab	144ceeeecf
X:55744827 RRAGB C>T	X	55744827	55744827	C	T	RRAGB	c.67C>T	NM_016656.3	NP_057740.2:p.(Leu23=)	NC_000023.10:g.55744827C>T	(Likely) benign	1 lab	144db5c8ee
4:843765 GAK G>A	4	843765	843765	G	A	GAK	c.3749C>T	NM_005255.4	NP_005246.2:p.(Thr1250Met)	NC_000004.11:g.843765G>A	(Likely) benign	1 lab	144e81cf21
11:95825294 MAML2 C>T	11	95825294	95825294	C	T	MAML2	c.1901G>A	NM_032427.4	NP_115803.1:p.(Ser634Asn)	NC_000011.9:g.95825294C>T	(Likely) benign	1 lab	144ee35cfa
1:236924392 ACTN2 C>T	1	236924392	236924392	C	T	ACTN2	c.1821C>T	NM_001278344.1	NP_001265273.1:p.(Ile607=)	NC_000001.10:g.236924392C>T	(Likely) benign	1 lab	14500dc537
17:38447411 CDC6 C>T	17	38447411	38447411	C	T	CDC6	c.280C>T	NM_001254.4	NP_001245.1:p.(Arg94Ter)	NC_000017.10:g.38447411C>T	VUS	1 lab	1451ee2e64
9:72913085 SMC5 C>T	9	72913085	72913085	C	T	SMC5	c.1257C>T	NM_015110.4	NP_055925.2:p.(Gly419=)	NC_000009.11:g.72913085C>T	VUS	1 lab	14534fd258
8:28574782 EXTL3 C>A	8	28574782	28574782	C	A	EXTL3	c.1206C>A	NM_001440.3	NP_001431.1:p.(Asn402Lys)	NC_000008.10:g.28574782C>A	VUS	1 lab	14538b943b
14:65237651 SPTB G>A	14	65237651	65237651	G	A	SPTB	c.5750C>T	NM_001024858.3	NP_001020029.1:p.(Ser1917Phe)	NC_000014.8:g.65237651G>A	(Likely) benign	1 lab	1453f7e0a3
13:111147771 COL4A2 C>T	13	111147771	111147771	C	T	COL4A2	c.3717C>T	NM_001846.3	NP_001837.2:p.(Gly1239=)	NC_000013.10:g.111147771C>T	(Likely) benign	1 lab	14546d97ca
11:71727119 NUMA1 T>C	11	71727119	71727119	T	C	NUMA1	c.1430A>G	NM_001286561.1	NP_001273490.1:p.(Asn477Ser)	NC_000011.9:g.71727119T>C	(Likely) benign	1 lab	1458e69c1f
10:123239527 FGFR2 C>T	10	123239527	123239527	C	T	FGFR2	c.2310G>A	NM_000141.4	NP_000132.3:p.(Leu770=)	NC_000010.10:g.123239527C>T	(Likely) benign	1 lab	1458ed5928
19:38572367 SIPA1L3 GGCCACCGCCACC>G	19	38572367	38572397	GGCCACCGCCACC	G	SIPA1L3	c.181_192del	NM_015073.3	NP_055888.1:p.(Ala61_Thr64del)	NC_000019.9:g.38572386_38572397del	VUS	1 lab	145970eaed
22:21213528 SNAP29 T>C	22	21213528	21213528	T	C	SNAP29	c.130T>C	NM_004782.3	NP_004773.1:p.(Tyr44His)	NC_000022.10:g.21213528T>C	(Likely) benign	1 lab	145a1b164f
3:58108957 FLNB C>T	3	58108957	58108957	C	T	FLNB	c.3264C>T	NM_001164317.1	NP_001157789.1:p.(Ser1088=)	NC_000003.11:g.58108957C>T	(Likely) benign	1 lab	145a4e1a9f
1:33502429 AK2 T>C	1	33502429	33502429	T	C	AK2	c.-262A>G	NM_001319139.3	NP_001306068.1:p.?	NC_000001.10:g.33502429T>C	(Likely) pathogenic	1 lab	e32ac84adb
21:28302227 ADAMTS5 C>A	21	28302227	28302227	C	A	ADAMTS5	c.2203G>T	NM_007038.5	NP_008969.2:p.(Val735Phe)	NC_000021.8:g.28302227C>A	VUS	1 lab	e32cfc435e
11:65319519 LTBP3 G>A	11	65319519	65319519	G	A	LTBP3	c.1455C>T	NM_001130144.2	NP_001123616.1:p.(Asp485=)	NC_000011.9:g.65319519G>A	(Likely) benign	1 lab	145d367eb4
2:179396922 TTN C>G	2	179396922	179396922	C	G	TTN	c.104420G>C	NM_001267550.1	NP_001254479.1:p.(Arg34807Thr)	NC_000002.11:g.179396922C>G	VUS	1 lab	145d8ff029
22:51160012 SHANK3 CTGCCCAGCCCCCG>C	22	51160012	51160025	CTGCCCAGCCCCCG	C	SHANK3	c.3977_3989del	NM_001372044.2	NP_001358973.1:p.(Leu1326ArgfsTer29)	NC_000022.10:g.51160013_51160025del	(Likely) pathogenic	1 lab	145dce8cda
X:48337083 FTSJ1 G>T	X	48337083	48337083	G	T	FTSJ1	c.270G>T	NM_177439.2	NP_803188.1:p.(Gly90=)	NC_000023.10:g.48337083G>T	(Likely) benign	1 lab	145f3bb40b
X:119565220 LAMP2 A>G	X	119565220	119565220	A	G	LAMP2	c.1191T>C	NM_002294.2	NP_002285.1:p.(Phe397=)	NC_000023.10:g.119565220A>G	(Likely) benign	1 lab	14607cc82e
X:107977820 IRS4 G>C	X	107977820	107977820	G	C	IRS4	c.1755C>G	NM_003604.2	NP_003595.1:p.(Gly585=)	NC_000023.10:g.107977820G>C	VUS	1 lab	1461621130
6:10400720 TFAP2A T>C	6	10400720	10400720	T	C	TFAP2A	c.968A>G	NM_001032280.2	NP_001027451.1:p.(Asn323Ser)	NC_000006.11:g.10400720T>C	(Likely) benign	1 lab	14617642fd
18:43445616 EPG5 T>C	18	43445616	43445616	T	C	EPG5	c.6730A>G	NM_020964.3	NP_066015.2:p.(Lys2244Glu)	NC_000018.9:g.43445616T>C	(Likely) benign	1 lab	1463bcaa78
17:41219642 BRCA1 T>C	17	41219642	41219642	T	C	BRCA1	c.5057A>G	NM_007294.3	NP_009225.1:p.(His1686Arg)	NC_000017.10:g.41219642T>C	(Likely) pathogenic	1 lab	1463df440f
22:38168681 TRIOBP G>A	22	38168681	38168681	G	A	TRIOBP	c.7010G>A	NM_001039141.2	NP_001034230.1:p.(Arg2337Gln)	NC_000022.10:g.38168681G>A	VUS	1 lab	14642eddf4
20:21686400 PAX1 A>AG	20	21686400	21686405	A	AG	PAX1	c.55dup	NM_001257096.1	NP_001244025.1:p.(Ala19GlyfsTer117)	NC_000020.10:g.21686405dup	(Likely) pathogenic	1 lab	14648da444
1:214820437 CENPF A>G	1	214820437	214820437	A	G	CENPF	c.7524A>G	NM_016343.3	NP_057427.3:p.(Gln2508=)	NC_000001.10:g.214820437A>G	VUS	1 lab	146800b099
11:17544974 USH1C G>A	11	17544974	17544974	G	A	USH1C	c.811C>T	NM_153676.3	NP_710142.1:p.(His271Tyr)	NC_000011.9:g.17544974G>A	VUS	1 lab	14693d5fc9
22:38109370 TRIOBP C>T	22	38109370	38109370	C	T	TRIOBP	c.408C>T	NM_001039141.2	NP_001034230.1:p.(Ser136=)	NC_000022.10:g.38109370C>T	(Likely) benign	1 lab	146a91db72
21:45194560 CSTB C>T	21	45194560	45194560	C	T	CSTB	c.147G>A	NM_000100.3	NP_000091.1:p.(Ala49=)	NC_000021.8:g.45194560C>T	(Likely) benign	1 lab	146b19217a
4:109861687 COL25A1 C>T	4	109861687	109861687	C	T	COL25A1	c.672+8G>A	NM_198721.3	NP_942014.1:p.?	NC_000004.11:g.109861687C>T	(Likely) benign	1 lab	146be498a8
X:7252130 STS C>T	X	7252130	7252130	C	T	STS	c.1345C>T	NM_000351.7	NP_000342.3:p.(Arg449Cys)	NC_000023.10:g.7252130C>T	(Likely) pathogenic	1 lab	e32e033f77
2:29294420 PCARE G>T	2	29294420	29294420	G	T	PCARE	c.2708C>A	NM_001029883.2	NP_001025054.1:p.(Pro903His)	NC_000002.11:g.29294420G>T	(Likely) benign	1 lab	146ca47866
15:100636651 ADAMTS17 C>T	15	100636651	100636651	C	T	ADAMTS17	c.2047G>A	NM_139057.3	NP_620688.2:p.(Ala683Thr)	NC_000015.9:g.100636651C>T	(Likely) benign	1 lab	146d941d72
1:1417994 ATAD3B G>A	1	1417994	1417994	G	A	ATAD3B	c.612G>A	NM_001317238.1	NP_001304167.1:p.(Thr204=)	NC_000001.10:g.1417994G>A	VUS	1 lab	146dbd657f
7:138603473 KIAA1549 G>A	7	138603473	138603473	G	A	KIAA1549	c.899C>T	NM_001164665.1	NP_001158137.1:p.(Pro300Leu)	NC_000007.13:g.138603473G>A	VUS	1 lab	146e524b34
1:97770835 DPYD G>A	1	97770835	97770835	G	A	DPYD	c.2279C>T	NM_000110.3	NP_000101.2:p.(Thr760Ile)	NC_000001.10:g.97770835G>A	(Likely) benign	1 lab	1470c9ebce
13:113748906 MCF2L C>T	13	113748906	113748906	C	T	MCF2L	c.3044C>T	NM_001320816.1	NP_001307745.1:p.(Ser1015Leu)	NC_000013.10:g.113748906C>T	VUS	1 lab	1471af789d
17:29652904 NF1 T>G	17	29652904	29652904	T	G	NF1	c.4839T>G	NM_000267.3	NP_000258.1:p.(Tyr1613Ter)	NC_000017.10:g.29652904T>G	(Likely) pathogenic	1 lab	1472753b9d
6:3225428 TUBB2B T>C	6	3225428	3225428	T	C	TUBB2B	c.895A>G	NM_178012.4	NP_821080.1:p.(Met299Val)	NC_000006.11:g.3225428T>C	VUS	1 lab	1472b5d270
3:129325277 PLXND1 C>T	3	129325277	129325277	C	T	PLXND1	c.206G>A	NM_015103.3	NP_055918.3:p.(Gly69Glu)	NC_000003.11:g.129325277C>T	VUS	1 lab	e330d51c87
9:139943271 ENTPD2 C>G	9	139943271	139943271	C	G	ENTPD2	c.1326G>C	NM_203468.2	NP_982293.1:p.(Leu442=)	NC_000009.11:g.139943271C>G	(Likely) benign	1 lab	1474be3a1b
11:76890834 MYO7A C>T	11	76890834	76890834	C	T	MYO7A	c.2421C>T	NM_000260.3	NP_000251.3:p.(His807=)	NC_000011.9:g.76890834C>T	(Likely) benign	1 lab	1474ddae45
18:43495547 EPG5 A>G	18	43495547	43495547	A	G	EPG5	c.3622T>C	NM_020964.3	NP_066015.2:p.(Ser1208Pro)	NC_000018.9:g.43495547A>G	VUS	1 lab	1475d7970d
X:55290267 PAGE3 C>A	X	55290267	55290267	C	A	PAGE3	c.70G>T	NM_001171252.1	NP_001164723.1:p.(Val24Leu)	NC_000023.10:g.55290267C>A	(Likely) benign	1 lab	147688c864
8:42171885 IKBKB C>T	8	42171885	42171885	C	T	IKBKB	c.738C>T	NM_001556.3	NP_001547.1:p.(Ser246=)	NC_000008.10:g.42171885C>T	(Likely) benign	1 lab	1478f29c95
20:4883209 SLC23A2 G>A	20	4883209	4883209	G	A	SLC23A2	c.208-5C>T	NM_203327.1	NP_976072.1:p.?	NC_000020.10:g.4883209G>A	(Likely) benign	1 lab	1479a85ce7
5:137521241 KIF20A A>G	5	137521241	137521241	A	G	KIF20A	c.1967A>G	NM_005733.3	NP_005724.1:p.(Gln656Arg)	NC_000005.9:g.137521241A>G	(Likely) benign	1 lab	1479aa77d7
2:31751294 SRD5A2 C>T	2	31751294	31751294	C	T	SRD5A2	c.737G>A	NM_000348.3	NP_000339.2:p.(Arg246Gln)	NC_000002.11:g.31751294C>T	(Likely) pathogenic	1 lab	147df24f5a
17:17700535 RAI1 A>G	17	17700535	17700535	A	G	RAI1	c.4273A>G	NM_030665.3	NP_109590.3:p.(Lys1425Glu)	NC_000017.10:g.17700535A>G	(Likely) benign	1 lab	1480cef5bb
11:1776242 CTSD G>A	11	1776242	1776242	G	A	CTSD	c.721C>T	NM_001909.4	NP_001900.1:p.(Pro241Ser)	NC_000011.9:g.1776242G>A	VUS	1 lab	1481dc5c7c
20:31022374 ASXL1 G>A	20	31022374	31022374	G	A	ASXL1	c.1859G>A	NM_015338.5	NP_056153.2:p.(Arg620His)	NC_000020.10:g.31022374G>A	VUS	1 lab	14825d753c
4:126239888 FAT4 C>T	4	126239888	126239888	C	T	FAT4	c.2322C>T	NM_024582.4	NP_078858.4:p.(Pro774=)	NC_000004.11:g.126239888C>T	(Likely) benign	1 lab	1482768a6f
1:243328887 CEP170 G>T	1	243328887	243328887	G	T	CEP170	c.2375C>A	NM_014812.2	NP_055627.2:p.(Ser792Ter)	NC_000001.10:g.243328887G>T	(Likely) benign	1 lab	148344ff18
3:189838477 P3H2 G>GGCA	3	189838477	189838494	G	GGCA	P3H2	c.41_43dup	NM_018192.4	NP_060662.2:p.(Leu14dup)	NC_000003.11:g.189838492_189838494dup	VUS	1 lab	1486b6bd54
X:37979698 SYTL5 C>T	X	37979698	37979698	C	T	SYTL5	c.1684C>T	NM_001163335.1	NP_001156807.1:p.(Leu562Phe)	NC_000023.10:g.37979698C>T	(Likely) benign	1 lab	1487393481
4:3526656 LRPAP1 C>T	4	3526656	3526656	C	T	LRPAP1	c.327G>A	NM_002337.4	NP_002328.1:p.(Ala109=)	NC_000004.11:g.3526656C>T	(Likely) benign	1 lab	14879083fb
17:79862793 PCYT2 C>T	17	79862793	79862793	C	T	PCYT2	c.1020G>A	NM_001330518.1	NP_001317447.1:p.(Lys340=)	NC_000017.10:g.79862793C>T	(Likely) benign	1 lab	1487b112ab
20:42935701 FITM2 G>A	20	42935701	42935701	G	A	FITM2	c.353C>T	NM_001080472.4	NP_001073941.1:p.(Thr118Met)	NC_000020.10:g.42935701G>A	VUS	1 lab	148916975f
2:47630458 MSH2 A>G	2	47630458	47630458	A	G	MSH2	c.128A>G	NM_000251.3	NP_000242.1:p.(Tyr43Cys)	NC_000002.11:g.47630458A>G	VUS	1 lab	e335fc222d
20:57474002 GNAS C>T	20	57474002	57474002	C	T	GNAS	c.2148C>T	NM_080425.3	NP_536350.2:p.(Gly716=)	NC_000020.10:g.57474002C>T	(Likely) benign	1 lab	148c41b305
5:102526674 PPIP5K2 G>A	5	102526674	102526674	G	A	PPIP5K2	c.3484G>A	NM_001276277.2	NP_001263206.1:p.(Ala1162Thr)	NC_000005.9:g.102526674G>A	(Likely) benign	1 lab	148d5fd0b1
14:64497982 SYNE2 A>G	14	64497982	64497982	A	G	SYNE2	c.7128A>G	NM_182914.2	NP_878918.2:p.(Pro2376=)	NC_000014.8:g.64497982A>G	(Likely) benign	1 lab	148d9f1494
17:29528410 NF1 T>A	17	29528410	29528410	T	A	NF1	c.1186-19T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528410T>A	(Likely) benign	1 lab	148ec159b8
2:179391889 TTN C>T	2	179391889	179391889	C	T	TTN	c.107826G>A	NM_001267550.1	NP_001254479.1:p.(Gln35942=)	NC_000002.11:g.179391889C>T	(Likely) benign	1 lab	148ec34830
3:124456786 UMPS G>A	3	124456786	124456786	G	A	UMPS	c.682G>A	NM_000373.3	NP_000364.1:p.(Gly228Ser)	NC_000003.11:g.124456786G>A	VUS	1 lab	148fc42719
12:49426404 KMT2D G>A	12	49426404	49426404	G	A	KMT2D	c.12084C>T	NM_003482.3	NP_003473.3:p.(Thr4028=)	NC_000012.11:g.49426404G>A	(Likely) benign	1 lab	14909535e9
X:122761659 THOC2 T>C	X	122761659	122761659	T	C	THOC2	c.2642A>G	NM_001081550.1	NP_001075019.1:p.(Tyr881Cys)	NC_000023.10:g.122761659T>C	(Likely) pathogenic	1 lab	14964ee96c
8:144668930 EEF1D A>G	8	144668930	144668930	A	G	EEF1D	c.1184T>C	NM_032378.7	NP_115754.4:p.(Met395Thr)	NC_000008.10:g.144668930A>G	VUS	1 lab	e33b2b08ba
4:1988101 NELFA C>T	4	1988101	1988101	C	T	NELFA	c.663G>A	NM_005663.5	NP_005654.4:p.(Ala221=)	NC_000004.11:g.1988101C>T	(Likely) benign	1 lab	e33daf5c14
X:153416156 OPN1LW C>T	X	153416156	153416156	C	T	OPN1LW	c.141C>T	NM_020061.5	NP_064445.2:p.(Ile47=)	NC_000023.10:g.153416156C>T	(Likely) benign	1 lab	1497a01a45
2:197157326 HECW2 G>A	2	197157326	197157326	G	A	HECW2	c.2963C>T	NM_020760.3	NP_065811.1:p.(Pro988Leu)	NC_000002.11:g.197157326G>A	VUS	1 lab	14987b24d3
X:48664850 HDAC6 C>T	X	48664850	48664850	C	T	HDAC6	c.513C>T	NM_001321226.1	NP_001308155.1:p.(Tyr171=)	NC_000023.10:g.48664850C>T	(Likely) benign	1 lab	1498abdcea
9:139326373 INPP5E G>A	9	139326373	139326373	G	A	INPP5E	c.1452C>T	NM_019892.5	NP_063945.2:p.(Gly484=)	NC_000009.11:g.139326373G>A	(Likely) benign	1 lab	1499ac222a
X:153129444 L1CAM G>A	X	153129444	153129444	G	A	L1CAM	c.3351C>T	NM_001278116.1	NP_001265045.1:p.(Phe1117=)	NC_000023.10:g.153129444G>A	(Likely) benign	1 lab	149c55a477
19:6684578 C3 C>T	19	6684578	6684578	C	T	C3	c.4113G>A	NM_000064.2	NP_000055.2:p.(Pro1371=)	NC_000019.9:g.6684578C>T	(Likely) benign	1 lab	149cc28dcd
X:84510696 ZNF711 A>G	X	84510696	84510696	A	G	ZNF711	c.511A>G	NM_001330574.1	NP_001317503.1:p.(Thr171Ala)	NC_000023.10:g.84510696A>G	(Likely) benign	1 lab	149d2bcec9
1:228486237 OBSCN C>A	1	228486237	228486237	C	A	OBSCN	c.13029C>A	NM_001271223.2	NP_001258152.2:p.(Ser4343Arg)	NC_000001.10:g.228486237C>A	VUS	1 lab	149e9f1709
13:100634715 ZIC2 G>A	13	100634715	100634715	G	A	ZIC2	c.397G>A	NM_007129.4	NP_009060.2:p.(Gly133Ser)	NC_000013.10:g.100634715G>A	(Likely) benign	1 lab	149f21ca03
22:18643000 USP18 C>T	22	18643000	18643000	C	T	USP18	c.219C>T	NM_017414.3	NP_059110.2:p.(Phe73=)	NC_000022.10:g.18643000C>T	(Likely) benign	1 lab	14a2895b7c
10:121436496 BAG3 G>A	10	121436496	121436496	G	A	BAG3	c.1430G>A	NM_004281.3	NP_004272.2:p.(Arg477His)	NC_000010.10:g.121436496G>A	VUS	1 lab	14a47597ad
19:48814885 ODAD1 C>T	19	48814885	48814885	C	T	ODAD1	c.522G>A	NM_001364171.1	NP_001351100.1:p.(Ala174=)	NC_000019.9:g.48814885C>T	(Likely) benign	1 lab	14a5cd30cb
2:220493935 SLC4A3 G>A	2	220493935	220493935	G	A	SLC4A3	c.287G>A	NM_201574.3	NP_963868.3:p.(Arg96Gln)	NC_000002.11:g.220493935G>A	(Likely) benign	1 lab	e33dc66fe5
9:79865099 VPS13A A>G	9	79865099	79865099	A	G	VPS13A	c.2124A>G	NM_033305.2	NP_150648.2:p.(Ser708=)	NC_000009.11:g.79865099A>G	(Likely) benign	1 lab	14a6a2222e
20:419934 TBC1D20 C>T	20	419934	419934	C	T	TBC1D20	c.774G>A	NM_144628.3	NP_653229.1:p.(Val258=)	NC_000020.10:g.419934C>T	(Likely) benign	1 lab	14a77367b0
7:103185574 RELN C>T	7	103185574	103185574	C	T	RELN	c.6520G>A	NM_005045.3	NP_005036.2:p.(Glu2174Lys)	NC_000007.13:g.103185574C>T	VUS	1 lab	14a77ccca5
12:974369 WNK1 G>A	12	974369	974369	G	A	WNK1	c.2233G>A	NM_213655.4	NP_998820.3:p.(Ala745Thr)	NC_000012.11:g.974369G>A	VUS	1 lab	14a7c7ec23
1:11863067 MTHFR C>A	1	11863067	11863067	C	A	MTHFR	c.107G>T	NM_005957.5	NP_005948.3:p.(Gly36Val)	NC_000001.10:g.11863067C>A	VUS	1 lab	e33ea35e34
5:52398035 MOCS2 C>T	5	52398035	52398035	C	T	MOCS2	c.118G>A	NM_004531.4	NP_004522.1:p.(Glu40Lys)	NC_000005.9:g.52398035C>T	(Likely) benign	1 lab	14a8b415d3
19:9025613 MUC16 C>T	19	9025613	9025613	C	T	MUC16	c.36841G>A	NM_024690.2	NP_078966.2:p.(Gly12281Ser)	NC_000019.9:g.9025613C>T	(Likely) benign	1 lab	14a913e6e4
21:44492095 CBS G>A	21	44492095	44492095	G	A	CBS	c.209C>T	NM_001178008.2	NP_001171479.1:p.(Pro70Leu)	NC_000021.8:g.44492095G>A	(Likely) benign	1 lab	14abf14e40
17:16327072 TRPV2 C>T	17	16327072	16327072	C	T	TRPV2	c.915C>T	NM_016113.5	NP_057197.2:p.(Gly305=)	NC_000017.10:g.16327072C>T	VUS	1 lab	14aca0d549
2:232156080 ARMC9 C>T	2	232156080	232156080	C	T	ARMC9	c.1641C>T	NM_001352755.1	NP_001339684.1:p.(Ile547=)	NC_000002.11:g.232156080C>T	(Likely) benign	1 lab	14acb1c05b
15:73617481 HCN4 T>C	15	73617481	73617481	T	C	HCN4	c.1793A>G	NM_005477.3	NP_005468.1:p.(Asn598Ser)	NC_000015.9:g.73617481T>C	VUS	1 lab	e33fa4c1f7
18:44157797 LOXHD1 G>A	18	44157797	44157797	G	A	LOXHD1	c.1843C>T	NM_144612.6	NP_653213.6:p.(Arg615Trp)	NC_000018.9:g.44157797G>A	VUS	1 lab	14ae7154ff
10:119042835 PDZD8 A>G	10	119042835	119042835	A	G	PDZD8	c.3409T>C	NM_173791.5	NP_776152.1:p.(Ser1137Pro)	NC_000010.10:g.119042835A>G	(Likely) benign	1 lab	14ae8c1239
3:10401709 ATP2B2 G>A	3	10401709	10401709	G	A	ATP2B2	c.1623C>T	NM_001330611.2	NP_001317540.1:p.(Pro541=)	NC_000003.11:g.10401709G>A	(Likely) benign	1 lab	14aef2427f
11:6411911 SMPD1 C>T	11	6411911	6411911	C	T	SMPD1	c.83C>T	NM_001318087.1	NP_001305016.1:p.(Pro28Leu)	NC_000011.9:g.6411911C>T	(Likely) benign	1 lab	14af0f1bd3
11:92623951 FAT3 A>G	11	92623951	92623951	A	G	FAT3				NC_000011.9:g.92623951A>G	(Likely) benign	1 lab	14af168235
10:55569083 PCDH15 TCCTCAAGGCGTCTCTGCCACTCTTCAC>T	10	55569083	55569118	TCCTCAAGGCGTCTCTGCCACTCTTCAC	T	PCDH15	c.4671+1206_4671+1232del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55569092_55569118del	VUS	1 lab	14af414067
X:10491214 MID1 C>T	X	10491214	10491214	C	T	MID1	c.674G>A	NM_000381.3	NP_000372.1:p.(Ser225Asn)	NC_000023.10:g.10491214C>T	(Likely) benign	1 lab	14b10547d7
9:134388693 POMT1 G>A	9	134388693	134388693	G	A	POMT1	c.1216G>A	NM_007171.3	NP_009102.3:p.(Gly406Ser)	NC_000009.11:g.134388693G>A	VUS	1 lab	14b4ef33ca
8:10470791 RP1L1 G>A	8	10470791	10470791	G	A	RP1L1	c.817C>T	NM_178857.5	NP_849188.4:p.(Arg273Trp)	NC_000008.10:g.10470791G>A	VUS	1 lab	14b4fab93b
9:103055191 INVS C>A	9	103055191	103055191	C	A	INVS	c.2652C>A	NM_014425.4	NP_055240.2:p.(Leu884=)	NC_000009.11:g.103055191C>A	(Likely) benign	1 lab	14b7618688
X:25031577 ARX C>G	X	25031577	25031577	C	G	ARX	c.535G>C	NM_139058.2	NP_620689.1:p.(Gly179Arg)	NC_000023.10:g.25031577C>G	VUS	1 lab	14b8c559aa
17:29559209 NF1 T>G	17	29559209	29559209	T	G	NF1	c.3314+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559209T>G	(Likely) pathogenic	1 lab	14b97d6a26
1:237777605 RYR2 T>A	1	237777605	237777605	T	A	RYR2	c.5177T>A	NM_001035.2	NP_001026.2:p.(Ile1726Asn)	NC_000001.10:g.237777605T>A	VUS	1 lab	14ba070e5e
11:89819887 UBTFL1 G>A	11	89819887	89819887	G	A	UBTFL1	c.770G>A	NM_001143975.1	NP_001137447.1:p.(Arg257His)	NC_000011.9:g.89819887G>A	(Likely) benign	1 lab	14ba9d525f
18:20526442 RBBP8 C>T	18	20526442	20526442	C	T	RBBP8	c.145C>T	NM_002894.3	NP_002885.1:p.(Arg49Ter)	NC_000018.9:g.20526442C>T	(Likely) pathogenic	1 lab	e340b9da79
X:149098226 HSFX4 C>T	X	149098226	149098226	C	T	HSFX4	c.364C>T	NM_001351114.1	NP_001338043.1:p.(Arg122Trp)	NC_000023.10:g.149098226C>T	VUS	1 lab	14c243a604
3:4735157 ITPR1 C>T	3	4735157	4735157	C	T	ITPR1	c.4003-17C>T	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4735157C>T	(Likely) benign	1 lab	14c39c725e
3:53837488 CACNA1D G>A	3	53837488	53837488	G	A	CACNA1D	c.5474G>A	NM_001128840.3	NP_001122312.1:p.(Arg1825Gln)	NC_000003.11:g.53837488G>A	VUS	1 lab	14c61815ed
X:47040786 RBM10 A>T	X	47040786	47040786	A	T	RBM10	c.1616A>T	NM_001204468.1	NP_001191397.1:p.(Asp539Val)	NC_000023.10:g.47040786A>T	VUS	1 lab	14c677e634
22:38119197 TRIOBP G>A	22	38119197	38119197	G	A	TRIOBP	c.634G>A	NM_001039141.2	NP_001034230.1:p.(Gly212Ser)	NC_000022.10:g.38119197G>A	(Likely) benign	1 lab	14c874e546
5:131630573 SLC22A4 C>T	5	131630573	131630573	C	T	SLC22A4	c.264C>T	NM_003059.3	NP_003050.2:p.(Thr88=)	NC_000005.9:g.131630573C>T	(Likely) benign	1 lab	14c98ad5ed
19:36223624 KMT2B T>C	19	36223624	36223624	T	C	KMT2B	c.6174T>C	NM_014727.2	NP_055542.1:p.(Ile2058=)	NC_000019.9:g.36223624T>C	(Likely) benign	1 lab	14cf27b012
21:46925094 COL18A1 C>A	21	46925094	46925094	C	A	COL18A1	c.4151C>A	NM_130444.3	NP_569711.2:p.(Pro1384His)	NC_000021.8:g.46925094C>A	VUS	1 lab	14d0e467d8
5:135390553 TGFBI A>G	5	135390553	135390553	A	G	TGFBI	c.1410+3A>G	NM_000358.2	NP_000349.1:p.?	NC_000005.9:g.135390553A>G	(Likely) benign	1 lab	14d1170603
11:102992107 DYNC2H1 G>A	11	102992107	102992107	G	A	DYNC2H1	c.1367G>A	NM_001080463.1	NP_001073932.1:p.(Arg456Gln)	NC_000011.9:g.102992107G>A	(Likely) benign	1 lab	14d22178b2
15:79223823 CTSH G>A	15	79223823	79223823	G	A	CTSH	c.116C>T	NM_001319137.1	NP_001306066.1:p.(Ala39Val)	NC_000015.9:g.79223823G>A	VUS	1 lab	14d36041df
17:1631718 WDR81 AGAG>A	17	1631718	1631732	AGAG	A	WDR81	c.3477_3479del	NM_001163809.2	NP_001157281.1:p.(Glu1159del)	NC_000017.10:g.1631730_1631732del	VUS	1 lab	14d4e345b4
12:88939555 KITLG T>C	12	88939555	88939555	T	C	KITLG	c.103A>G	NM_000899.4	NP_000890.1:p.(Asn35Asp)	NC_000012.11:g.88939555T>C	(Likely) benign	1 lab	14d728f1f9
15:24921764 NPAP1 G>T	15	24921764	24921764	G	T	NPAP1	c.750G>T	NM_018958.2	NP_061831.2:p.(Arg250=)	NC_000015.9:g.24921764G>T	(Likely) benign	1 lab	14d8a67549
16:71171232 HYDIN A>G	16	71171232	71171232	A	G	HYDIN	c.865T>C	NM_001270974.2	NP_001257903.1:p.(Tyr289His)	NC_000016.9:g.71171232A>G	VUS	1 lab	14db0306fb
1:39853687 MACF1 T>A	1	39853687	39853687	T	A	MACF1	c.8987T>A	NM_012090.5	NP_036222.3:p.(Val2996Glu)	NC_000001.10:g.39853687T>A	(Likely) benign	1 lab	14dbb5dc79
7:100218519 TFR2 C>T	7	100218519	100218519	C	T	TFR2	c.2367G>A	NM_003227.3	NP_003218.2:p.(Ala789=)	NC_000007.13:g.100218519C>T	(Likely) benign	1 lab	14dcaf0a6c
11:69631109 FGF3 C>G	11	69631109	69631109	C	G	FGF3				NC_000011.9:g.69631109C>G	(Likely) benign	1 lab	14dec8e391
4:126411605 FAT4 C>T	4	126411605	126411605	C	T	FAT4	c.13634C>T	NM_001291303.1	NP_001278232.1:p.(Pro4545Leu)	NC_000004.11:g.126411605C>T	(Likely) benign	1 lab	14e1bc2098
11:47363554 MYBPC3 G>A	11	47363554	47363554	G	A	MYBPC3	c.1778C>T	NM_000256.3	NP_000247.2:p.(Ser593Phe)	NC_000011.9:g.47363554G>A	VUS	1 lab	14e1eac866
12:6077337 VWF G>C	12	6077337	6077337	G	C	VWF	c.7730-4C>G	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6077337G>C	(Likely) benign	1 lab	14e20df1af
11:62557476 TMEM179B C>G	11	62557476	62557476	C	G	TMEM179B	c.617C>G	NM_199337.3	NP_955369.1:p.(Ser206Cys)	NC_000011.9:g.62557476C>G	VUS	1 lab	14e309b4b2
3:185252825 LIPH TCCTTGTGTAGAGCATCAG>T	3	185252825	185252846	TCCTTGTGTAGAGCATCAG	T	LIPH	c.127_144del	NM_139248.3	NP_640341.1:p.(Leu43_Arg48del)	NC_000003.11:g.185252829_185252846del	VUS	1 lab	e3428b8d0e
1:227171303 COQ8A C>T	1	227171303	227171303	C	T	COQ8A	c.1131C>T	NM_020247.4	NP_064632.2:p.(Ala377=)	NC_000001.10:g.227171303C>T	(Likely) benign	1 lab	14e41eddd7
9:139403395 NOTCH1 C>T	9	139403395	139403395	C	T	NOTCH1	c.3098G>A	NM_017617.5	NP_060087.3:p.(Gly1033Asp)	NC_000009.11:g.139403395C>T	VUS	1 lab	14e49bcf83
15:82533683 EFL1 T>G	15	82533683	82533683	T	G	EFL1	c.306A>C	NM_001322845.1	NP_001309774.1:p.(Glu102Asp)	NC_000015.9:g.82533683T>G	(Likely) benign	1 lab	14e5ca8ba4
10:31750087 ZEB1 C>T	10	31750087	31750087	C	T	ZEB1	c.129C>T	NM_001128128.2	NP_001121600.1:p.(Asp43=)	NC_000010.10:g.31750087C>T	(Likely) benign	1 lab	14e632ae46
17:29664399 NF1 AGT>TA	17	29664399	29664401	AGT	TA	NF1	c.6378_6380delinsTA	NM_000267.3	NP_000258.1:p.(Gln2126HisfsTer3)	NC_000017.10:g.29664399_29664401delinsTA	(Likely) pathogenic	1 lab	14e7be5196
5:64100153 CWC27 C>A	5	64100153	64100153	C	A	CWC27	c.878C>A	NM_001318000.1	NP_001304929.1:p.(Thr293Lys)	NC_000005.9:g.64100153C>A	VUS	1 lab	14e8750caa
2:207012349 NDUFS1 A>G	2	207012349	207012349	A	G	NDUFS1	c.457T>C	NM_005006.6	NP_004997.4:p.(Phe153Leu)	NC_000002.11:g.207012349A>G	VUS	1 lab	14ef672262
11:1276661 MUC5B C>T	11	1276661	1276661	C	T	MUC5B	c.15939C>T	NM_002458.2	NP_002449.2:p.(Asn5313=)	NC_000011.9:g.1276661C>T	(Likely) benign	1 lab	14ef67c7aa
X:53247092 KDM5C C>G	X	53247092	53247092	C	G	KDM5C	c.408G>C	NM_004187.3	NP_004178.2:p.(Arg136=)	NC_000023.10:g.53247092C>G	(Likely) benign	1 lab	14eff7a791
1:172628390 FASLG A>C	1	172628390	172628390	A	C	FASLG	c.49A>C	NM_000639.1	NP_000630.1:p.(Ser17Arg)	NC_000001.10:g.172628390A>C	VUS	1 lab	14f11841b4
20:60572631 TAF4 C>G	20	60572631	60572631	C	G	TAF4	c.3065G>C	NM_003185.4	NP_003176.2:p.(Cys1022Ser)	NC_000020.10:g.60572631C>G	VUS	1 lab	e34b776395
11:726978 EPS8L2 C>G	11	726978	726978	C	G	EPS8L2	c.2145C>G	NM_022772.3	NP_073609.2:p.(Ser715Arg)	NC_000011.9:g.726978C>G	(Likely) benign	1 lab	14f5071371
9:108363617 FKTN A>G	9	108363617	108363617	A	G	FKTN	c.357A>G	NM_006731.2	NP_006722.2:p.(Leu119=)	NC_000009.11:g.108363617A>G	(Likely) benign	1 lab	14f5538fee
X:139586466 SOX3 C>T	X	139586466	139586466	C	T	SOX3	c.760G>A	NM_005634.2	NP_005625.2:p.(Val254Met)	NC_000023.10:g.139586466C>T	VUS	1 lab	14f5c95314
6:152462330 SYNE1 G>A	6	152462330	152462330	G	A	SYNE1	c.25246+8C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152462330G>A	(Likely) benign	1 lab	14f6ad5dfc
1:97770943 DPYD G>A	1	97770943	97770943	G	A	DPYD	c.2180-9C>T	NM_000110.3	NP_000101.2:p.?	NC_000001.10:g.97770943G>A	(Likely) benign	1 lab	14f773ad90
17:1634424 WDR81 G>A	17	1634424	1634424	G	A	WDR81	c.4029G>A	NM_001163809.1	NP_001157281.1:p.(Leu1343=)	NC_000017.10:g.1634424G>A	(Likely) benign	1 lab	14f777508d
20:57875913 EDN3 G>A	20	57875913	57875913	G	A	EDN3	c.46G>A	NM_207032.2	NP_996915.1:p.(Ala16Thr)	NC_000020.10:g.57875913G>A	(Likely) benign	1 lab	14f7c75b51
11:17519758 USH1C G>T	11	17519758	17519758	G	T	USH1C	c.2441C>A	NM_153676.3	NP_710142.1:p.(Thr814Asn)	NC_000011.9:g.17519758G>T	VUS	1 lab	14f9007218
18:43460105 EPG5 C>A	18	43460105	43460105	C	A	EPG5	c.5602G>T	NM_020964.3	NP_066015.2:p.(Gly1868Trp)	NC_000018.9:g.43460105C>A	VUS	1 lab	14f92a38ae
6:42672157 PRPH2 G>A	6	42672157	42672157	G	A	PRPH2	c.774C>T	NM_000322.4	NP_000313.2:p.(Tyr258=)	NC_000006.11:g.42672157G>A	(Likely) benign	1 lab	14fb07a66d
9:139751231 MAMDC4 G>A	9	139751231	139751231	G	A	MAMDC4	c.1790G>A	NM_206920.3	NP_996803.2:p.(Arg597His)	NC_000009.11:g.139751231G>A	(Likely) benign	1 lab	14fced0764
10:28274145 ODAD2 CAA>C	10	28274145	28274159	CAA	C	ODAD2	c.383-7_383-6del	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28274158_28274159del	(Likely) benign	1 lab	14fd64cda9
10:73111432 SLC29A3 C>T	10	73111432	73111432	C	T	SLC29A3	c.497C>T	NM_001174098.1	NP_001167569.1:p.(Ala166Val)	NC_000010.10:g.73111432C>T	(Likely) benign	1 lab	14ffd41fce
X:53448866 SMC1A T>G	X	53448866	53448866	T	G	SMC1A	c.22A>C	NM_001281463.1	NP_001268392.1:p.(Thr8Pro)	NC_000023.10:g.53448866T>G	(Likely) benign	1 lab	15007c31d2
17:42426940 GRN G>A	17	42426940	42426940	G	A	GRN	c.264+21G>A	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42426940G>A	(Likely) benign	1 lab	15043eca89
5:13914697 DNAH5 C>T	5	13914697	13914697	C	T	DNAH5	c.1252G>A	NM_001369.2	NP_001360.1:p.(Ala418Thr)	NC_000005.9:g.13914697C>T	(Likely) benign	1 lab	15044474d1
13:86370605 SLITRK6 A>T	13	86370605	86370605	A	T	SLITRK6	c.39T>A	NM_032229.3	NP_115605.2:p.(Leu13=)	NC_000013.10:g.86370605A>T	(Likely) benign	1 lab	15050dac20
9:71835803 TJP2 G>T	9	71835803	71835803	G	T	TJP2	c.343G>T	NM_004817.4	NP_004808.2:p.(Val115Leu)	NC_000009.11:g.71835803G>T	VUS	1 lab	e34ba994dc
X:70389875 NLGN3 C>T	X	70389875	70389875	C	T	NLGN3	c.2475C>T	NM_181303.1	NP_851820.1:p.(His825=)	NC_000023.10:g.70389875C>T	(Likely) benign	1 lab	15083a4b57
22:36692984 MYH9 G>A	22	36692984	36692984	G	A	MYH9	c.3177C>T	NM_002473.5	NP_002464.1:p.(Asp1059=)	NC_000022.10:g.36692984G>A	(Likely) benign	1 lab	15084ef887
6:43021548 CUL7 G>A	6	43021548	43021548	G	A	CUL7	c.49C>T	NM_001168370.1	NP_001161842.1:p.(His17Tyr)	NC_000006.11:g.43021548G>A	(Likely) benign	1 lab	1509f471bd
16:70902515 HYDIN G>A	16	70902515	70902515	G	A	HYDIN	c.11268C>T	NM_001270974.2	NP_001257903.1:p.(Asp3756=)	NC_000016.9:g.70902515G>A	(Likely) benign	1 lab	150a3665e2
4:1656877 FAM53A G>A	4	1656877	1656877	G	A	FAM53A	c.710C>T	NM_001297435.1	NP_001284364.1:p.(Pro237Leu)	NC_000004.11:g.1656877G>A	VUS	1 lab	1515816f92
16:50731225 NOD2 C>T	16	50731225	50731225	C	T	NOD2	c.71C>T	NM_022162.1	NP_071445.1:p.(Pro24Leu)	NC_000016.9:g.50731225C>T	(Likely) benign	1 lab	150cb9d934
15:48787754 FBN1 A>C	15	48787754	48787754	A	C	FBN1	c.2451T>G	NM_000138.4	NP_000129.3:p.(Ile817Met)	NC_000015.9:g.48787754A>C	VUS	1 lab	150d4313ee
12:53565207 CSAD A>G	12	53565207	53565207	A	G	CSAD	c.551T>C	NM_015989.4	NP_057073.4:p.(Met184Thr)	NC_000012.11:g.53565207A>G	VUS	1 lab	150da0faf2
15:57555369 TCF12 GA>G	15	57555369	57555373	GA	G	TCF12	c.1646del	NM_207037.2	NP_996920.1:p.(Lys549ArgfsTer14)	NC_000015.9:g.57555373del	(Likely) pathogenic	1 lab	150e5935dd
16:46695631 VPS35 G>A	16	46695631	46695631	G	A	VPS35	c.2210C>T	NM_018206.5	NP_060676.2:p.(Ala737Val)	NC_000016.9:g.46695631G>A	(Likely) benign	1 lab	150e883fd7
7:143884362 ARHGEF35 C>G	7	143884362	143884362	C	G	ARHGEF35	c.1115G>C	NM_001003702.2	NP_001003702.2:p.(Ser372Thr)	NC_000007.13:g.143884362C>G	VUS	1 lab	151087e1fb
14:102515844 DYNC1H1 C>T	14	102515844	102515844	C	T	DYNC1H1	c.13440C>T	NM_001376.4	NP_001367.2:p.(Ser4480=)	NC_000014.8:g.102515844C>T	(Likely) benign	1 lab	1511fdc6be
17:29661832 NF1 T>C	17	29661832	29661832	T	C	NF1	c.5750-24T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29661832T>C	(Likely) benign	1 lab	15133ddf31
2:197143303 HECW2 C>T	2	197143303	197143303	C	T	HECW2	c.3084G>A	NM_020760.3	NP_065811.1:p.(Ala1028=)	NC_000002.11:g.197143303C>T	(Likely) benign	1 lab	1513935c29
1:235940439 LYST G>A	1	235940439	235940439	G	A	LYST	c.5384C>T	NM_001301365.1	NP_001288294.1:p.(Pro1795Leu)	NC_000001.10:g.235940439G>A	VUS	1 lab	1515c86296
7:128483462 FLNC G>T	7	128483462	128483462	G	T	FLNC	c.2642G>T	NM_001458.4	NP_001449.3:p.(Gly881Val)	NC_000007.13:g.128483462G>T	VUS	1 lab	1516533a27
15:90173634 KIF7 G>A	15	90173634	90173634	G	A	KIF7	c.3202C>T	NM_198525.2	NP_940927.2:p.(Arg1068Trp)	NC_000015.9:g.90173634G>A	VUS	1 lab	1517980f8e
22:46658897 PKDREJ G>T	22	46658897	46658897	G	T	PKDREJ	c.323C>A	NM_006071.1	NP_006062.1:p.(Pro108His)	NC_000022.10:g.46658897G>T	VUS	1 lab	1523810798
X:107448930 COL4A6 A>AT	X	107448930	107448938	A	AT	COL4A6	c.610-6dup	NM_001287758.1	NP_001274687.1:p.?	NC_000023.10:g.107448938dup	(Likely) benign	1 lab	1518989454
17:76117201 TMC6 G>A	17	76117201	76117201	G	A	TMC6	c.1428C>T	NM_001127198.2	NP_001120670.1:p.(Pro476=)	NC_000017.10:g.76117201G>A	(Likely) benign	1 lab	151ab573bd
11:3661588 ART5 G>GT	11	3661588	3661589	G	GT	ART5	c.70_71insA	NM_053017.4	NP_443750.2:p.(Pro24HisfsTer13)	NC_000011.9:g.3661588_3661589insT	(Likely) benign	1 lab	151b42d01a
2:25016058 PTRHD1 G>A	2	25016058	25016058	G	A	PTRHD1	c.189C>T	NM_001013663.1	NP_001013685.1:p.(Arg63=)	NC_000002.11:g.25016058G>A	(Likely) benign	1 lab	151d9bf17f
6:106536188 PRDM1 C>A	6	106536188	106536188	C	A	PRDM1	c.155C>A	NM_001198.3	NP_001189.2:p.(Ala52Asp)	NC_000006.11:g.106536188C>A	(Likely) benign	1 lab	152028b773
5:90151620 ADGRV1 C>A	5	90151620	90151620	C	A	ADGRV1	c.17657C>A	NM_032119.4	NP_115495.3:p.(Ala5886Asp)	NC_000005.9:g.90151620C>A	VUS	1 lab	15202b0855
2:202591251 ALS2 A>G	2	202591251	202591251	A	G	ALS2	c.3204T>C	NM_020919.3	NP_065970.2:p.(Asp1068=)	NC_000002.11:g.202591251A>G	(Likely) benign	1 lab	15217c8ed2
10:26385370 MYO3A AC>A	10	26385370	26385371	AC	A	MYO3A	c.1624del	NM_017433.5	NP_059129.3:p.(Leu542Ter)	NC_000010.10:g.26385371del	(Likely) pathogenic	1 lab	152236ed6c
20:9360789 PLCB4 A>T	20	9360789	9360789	A	T	PLCB4	c.833A>T	NM_001172646.1	NP_001166117.1:p.(Asp278Val)	NC_000020.10:g.9360789A>T	VUS	1 lab	152254f4dd
14:75078538 LTBP2 C>A	14	75078538	75078538	C	A	LTBP2	c.110G>T	NM_000428.2	NP_000419.1:p.(Arg37Met)	NC_000014.8:g.75078538C>A	(Likely) benign	1 lab	152324105b
X:108924487 ACSL4 A>C	X	108924487	108924487	A	C	ACSL4	c.639+8T>G	NM_022977.2	NP_075266.1:p.?	NC_000023.10:g.108924487A>C	(Likely) benign	1 lab	1523742f88
19:45211248 CEACAM16 C>T	19	45211248	45211248	C	T	CEACAM16	c.1056C>T	NM_001039213.4	NP_001034302.2:p.(Arg352=)	NC_000019.9:g.45211248C>T	(Likely) benign	1 lab	1523b80720
22:29121008 CHEK2 C>G	22	29121008	29121008	C	G	CHEK2	c.549G>C	NM_007194.4	NP_009125.1:p.(Leu183Phe)	NC_000022.10:g.29121008C>G	VUS	1 lab	1523d0379e
17:7977021 ALOX12B A>G	17	7977021	7977021	A	G	ALOX12B	c.1709T>C	NM_001139.3	NP_001130.1:p.(Val570Ala)	NC_000017.10:g.7977021A>G	VUS	1 lab	e34d14ed1d
3:121973182 CASR A>G	3	121973182	121973182	A	G	CASR	c.146A>G	NM_001178065.1	NP_001171536.1:p.(Gln49Arg)	NC_000003.11:g.121973182A>G	VUS	1 lab	152536b9bb
19:46915838 CCDC8 C>T	19	46915838	46915838	C	T	CCDC8	c.230G>A	NM_032040.5	NP_114429.2:p.(Arg77Gln)	NC_000019.9:g.46915838C>T	VUS	1 lab	152580e4c8
15:23891147 MAGEL2 G>A	15	23891147	23891147	G	A	MAGEL2	c.1743C>T	NM_019066.4	NP_061939.3:p.(His581=)	NC_000015.9:g.23891147G>A	(Likely) benign	1 lab	1525fede34
10:67862937 CTNNA3 T>C	10	67862937	67862937	T	C	CTNNA3	c.1955A>G	NM_013266.3	NP_037398.2:p.(Gln652Arg)	NC_000010.10:g.67862937T>C	(Likely) benign	1 lab	1528081435
1:226109780 PYCR2 C>G	1	226109780	226109780	C	G	PYCR2	c.319-1G>C	NM_013328.3	NP_037460.2:p.?	NC_000001.10:g.226109780C>G	(Likely) pathogenic	1 lab	1529037a73
X:100169557 XKRX C>T	X	100169557	100169557	C	T	XKRX	c.1120G>A	NM_212559.2	NP_997724.2:p.(Val374Met)	NC_000023.10:g.100169557C>T	(Likely) benign	1 lab	1529f18d70
16:21215404 ZP2 C>T	16	21215404	21215404	C	T	ZP2	c.919G>A	NM_003460.2	NP_003451.1:p.(Glu307Lys)	NC_000016.9:g.21215404C>T	(Likely) benign	1 lab	152af0bcff
16:2115548 TSC2 CG>C	16	2115548	2115550	CG	C	TSC2	c.1630del	NM_000548.5	NP_000539.2:p.(Glu544SerfsTer17)	NC_000016.9:g.2115550del	(Likely) pathogenic	1 lab	152b84eb35
13:43148472 TNFSF11 C>T	13	43148472	43148472	C	T	TNFSF11	c.33C>T	NM_003701.4	NP_003692.1:p.(Tyr11=)	NC_000013.10:g.43148472C>T	(Likely) benign	1 lab	152ba373ef
4:502710 PIGG G>A	4	502710	502710	G	A	PIGG	c.585G>A	NM_001345986.1	NP_001332915.1:p.(Glu195=)	NC_000004.11:g.502710G>A	(Likely) benign	1 lab	152bb39618
18:8076508 PTPRM A>G	18	8076508	8076508	A	G	PTPRM	c.1497A>G	NM_001105244.1	NP_001098714.1:p.(Ile499Met)	NC_000018.9:g.8076508A>G	VUS	1 lab	152c8b4f77
12:53185597 KRT3 C>G	12	53185597	53185597	C	G	KRT3	c.1192G>C	NM_057088.2	NP_476429.2:p.(Gly398Arg)	NC_000012.11:g.53185597C>G	VUS	1 lab	152e85499e
15:89867339 POLG G>A	15	89867339	89867339	G	A	POLG	c.2069C>T	NM_002693.2	NP_002684.1:p.(Thr690Met)	NC_000015.9:g.89867339G>A	VUS	1 lab	152eea9056
21:46912455 COL18A1 G>A	21	46912455	46912455	G	A	COL18A1	c.3409G>A	NM_130444.3	NP_569711.2:p.(Val1137Ile)	NC_000021.8:g.46912455G>A	(Likely) benign	1 lab	1531fdaa85
8:22269716 SLC39A14 G>A	8	22269716	22269716	G	A	SLC39A14	c.624G>A	NM_001351660.1	NP_001338589.1:p.(Pro208=)	NC_000008.10:g.22269716G>A	(Likely) benign	1 lab	15350c0ed7
8:145699601 FOXH1 T>C	8	145699601	145699601	T	C	FOXH1	c.*20A>G	NM_003923.2	NP_003914.1:p.?	NC_000008.10:g.145699601T>C	(Likely) benign	1 lab	1535f2ca77
2:56149494 EFEMP1 C>T	2	56149494	56149494	C	T	EFEMP1	c.81+1G>A	NM_001039348.2	NP_001034437.1:p.?	NC_000002.11:g.56149494C>T	VUS	1 lab	1535f97ea6
X:153175745 ARHGAP4 C>T	X	153175745	153175745	C	T	ARHGAP4	c.2156G>A	NM_001164741.1	NP_001158213.1:p.(Arg719Gln)	NC_000023.10:g.153175745C>T	(Likely) benign	1 lab	1536226c48
X:13762624 OFD1 A>T	X	13762624	13762624	A	T	OFD1	c.83A>T	NM_001330210.1	NP_001317139.1:p.(Asn28Ile)	NC_000023.10:g.13762624A>T	(Likely) benign	1 lab	153c61100b
20:45354303 SLC2A10 G>T	20	45354303	45354303	G	T	SLC2A10	c.628G>T	NM_030777.3	NP_110404.1:p.(Gly210Cys)	NC_000020.10:g.45354303G>T	(Likely) benign	1 lab	153d048c8b
1:151491026 CGN C>T	1	151491026	151491026	C	T	CGN	c.31C>T	NM_020770.3	NP_065821.1:p.(Arg11Trp)	NC_000001.10:g.151491026C>T	(Likely) benign	1 lab	153d529bc9
6:132643924 MOXD1 C>T	6	132643924	132643924	C	T	MOXD1	c.1199G>A	NM_015529.4	NP_056344.2:p.(Arg400His)	NC_000006.11:g.132643924C>T	VUS	1 lab	153e21b192
9:32989765 APTX C>A	9	32989765	32989765	C	A	APTX	c.125G>T	NM_001195249.1	NP_001182178.1:p.(Arg42Leu)	NC_000009.11:g.32989765C>A	VUS	1 lab	153ee9d493
19:5218495 PTPRS G>A	19	5218495	5218495	G	A	PTPRS	c.3984C>T	NM_002850.3	NP_002841.3:p.(Ala1328=)	NC_000019.9:g.5218495G>A	(Likely) benign	1 lab	1540f81a7f
15:45431333 DUOX1 C>T	15	45431333	45431333	C	T	DUOX1	c.1183C>T	NM_017434.4	NP_059130.2:p.(Arg395Ter)	NC_000015.9:g.45431333C>T	VUS	1 lab	15417b6bed
6:74351579 SLC17A5 G>A	6	74351579	74351579	G	A	SLC17A5	c.360C>T	NM_012434.4	NP_036566.1:p.(Ile120=)	NC_000006.11:g.74351579G>A	(Likely) benign	1 lab	1545a6ed48
9:131396617 DYNC2I2 G>GTACA	9	131396617	131396621	G	GTACA	DYNC2I2	c.1256_1259dup	NM_052844.3	NP_443076.2:p.(Ser421ValfsTer40)	NC_000009.11:g.131396618_131396621dup	(Likely) pathogenic	1 lab	15486ecbe5
17:43344809 MAP3K14 T>C	17	43344809	43344809	T	C	MAP3K14	c.2290A>G	NM_003954.5	NP_003945.2:p.(Thr764Ala)	NC_000017.10:g.43344809T>C	(Likely) benign	1 lab	154d174b79
X:70345910 MED12 G>A	X	70345910	70345910	G	A	MED12	c.2447G>A	NM_005120.2	NP_005111.2:p.(Arg816Gln)	NC_000023.10:g.70345910G>A	VUS	1 lab	154e0ed065
16:30735714 SRCAP CCAT>C	16	30735714	30735722	CCAT	C	SRCAP	c.4975_4977del	NM_006662.3	NP_006653.2:p.(Ser1659del)	NC_000016.9:g.30735720_30735722del	VUS	1 lab	e358581832
6:31084571 CDSN C>T	6	31084571	31084571	C	T	CDSN	c.821G>A	NM_001264.5	NP_001255.4:p.(Ser274Asn)	NC_000006.11:g.31084571C>T	(Likely) benign	1 lab	e35864164e
8:16021639 MSR1 G>A	8	16021639	16021639	G	A	MSR1	c.752C>T	NM_138715.2	NP_619729.1:p.(Thr251Ile)	NC_000008.10:g.16021639G>A	VUS	1 lab	1556607842
19:307311 MIER2 G>T	19	307311	307311	G	T	MIER2	c.1424C>A	NM_017550.2	NP_060020.1:p.(Ala475Asp)	NC_000019.9:g.307311G>T	(Likely) benign	1 lab	155741c0ba
9:372251 DOCK8 A>G	9	372251	372251	A	G	DOCK8	c.2074A>G	NM_203447.3	NP_982272.2:p.(Lys692Glu)	NC_000009.11:g.372251A>G	VUS	1 lab	155793e48f
15:42973742 STARD9 C>G	15	42973742	42973742	C	G	STARD9	c.1997C>G	NM_020759.3	NP_065810.2:p.(Ala666Gly)	NC_000015.9:g.42973742C>G	(Likely) benign	1 lab	1557d4ca45
17:57093035 TRIM37 C>G	17	57093035	57093035	C	G	TRIM37	c.2512G>C	NM_015294.6	NP_056109.1:p.(Val838Leu)	NC_000017.10:g.57093035C>G	(Likely) benign	1 lab	1557db82db
1:220366573 RAB3GAP2 A>G	1	220366573	220366573	A	G	RAB3GAP2	c.1270+9T>C	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220366573A>G	(Likely) benign	1 lab	155b4dbc37
13:41508049 ELF1 A>G	13	41508049	41508049	A	G	ELF1	c.1372T>C	NM_172373.4	NP_758961.1:p.(Ser458Pro)	NC_000013.10:g.41508049A>G	(Likely) benign	1 lab	155ee04e68
16:18875147 SMG1 T>G	16	18875147	18875147	T	G	SMG1	c.3520A>C	NM_015092.4	NP_055907.3:p.(Lys1174Gln)	NC_000016.9:g.18875147T>G	VUS	1 lab	155f32eada
6:31637641 CSNK2B G>C	6	31637641	31637641	G	C	CSNK2B	c.586G>C	NM_001320.7	NP_001311.3:p.(Ala196Pro)	NC_000006.11:g.31637641G>C	VUS	1 lab	e35fe0ac87
17:78262161 RNF213 T>C	17	78262161	78262161	T	C	RNF213	c.809T>C	NM_001256071.3	NP_001243000.2:p.(Met270Thr)	NC_000017.10:g.78262161T>C	(Likely) benign	1 lab	e3611faa7f
1:161772072 ATF6 G>T	1	161772072	161772072	G	T	ATF6	c.909+10G>T	NM_007348.3	NP_031374.2:p.?	NC_000001.10:g.161772072G>T	(Likely) benign	1 lab	156154f219
17:29527405 NF1 ATATAT>A	17	29527405	29527413	ATATAT	A	NF1	c.889-31_889-27del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29527409_29527413del	(Likely) benign	1 lab	156184923c
17:78082137 GAA G>A	17	78082137	78082137	G	A	GAA	c.1004G>A	NM_000152.3	NP_000143.2:p.(Gly335Glu)	NC_000017.10:g.78082137G>A	(Likely) pathogenic	1 lab	15619d8ff7
12:14774089 GUCY2C CG>C	12	14774089	14774090	CG	C	GUCY2C	c.2662del	NM_004963.4	NP_004954.2:p.(Arg888GlyfsTer4)	NC_000012.11:g.14774090del	VUS	1 lab	1562f985ea
10:115383328 NRAP G>C	10	115383328	115383328	G	C	NRAP	c.2417C>G	NM_001261463.1	NP_001248392.1:p.(Thr806Ser)	NC_000010.10:g.115383328G>C	(Likely) benign	1 lab	1563a3b440
17:29664719 NF1 CACTT>C	17	29664719	29664723	CACTT	C	NF1	c.6643-117_6643-114del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29664720_29664723del	(Likely) benign	1 lab	1563a64a91
X:35971793 CFAP47 T>G	X	35971793	35971793	T	G	CFAP47	c.1131T>G	NM_001304548.1	NP_001291477.1:p.(Ser377Arg)	NC_000023.10:g.35971793T>G	(Likely) benign	1 lab	15644b3401
3:100023742 TBC1D23 T>C	3	100023742	100023742	T	C	TBC1D23	c.1306+10T>C	NM_018309.4	NP_060779.2:p.?	NC_000003.11:g.100023742T>C	(Likely) benign	1 lab	15654ec290
20:10629305 JAG1 GTC>G	20	10629305	10629313	GTC	G	JAG1	c.1459_1460del	NM_000214.3	NP_000205.1:p.(Asp487HisfsTer3)	NC_000020.10:g.10629312_10629313del	(Likely) pathogenic	1 lab	1566864121
19:55359362 KIR2DS4 T>C	19	55359362	55359362	T	C	KIR2DS4	c.*137T>C	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359362T>C	(Likely) benign	1 lab	1574b9eb24
17:39023057 KRT12 T>C	17	39023057	39023057	T	C	KRT12	c.382A>G	NM_000223.4	NP_000214.1:p.(Thr128Ala)	NC_000017.10:g.39023057T>C	VUS	1 lab	1568b5db8a
9:124091188 GSN G>A	9	124091188	124091188	G	A	GSN	c.1782G>A	NM_001353053.1	NP_001339982.1:p.(Leu594=)	NC_000009.11:g.124091188G>A	(Likely) benign	1 lab	156d5230c3
7:107301238 SLC26A4 C>G	7	107301238	107301238	C	G	SLC26A4	c.-66C>G	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107301238C>G	(Likely) benign	1 lab	156e5cea64
5:176721256 NSD1 T>C	5	176721256	176721256	T	C	NSD1	c.6887T>C	NM_022455.4	NP_071900.2:p.(Val2296Ala)	NC_000005.9:g.176721256T>C	(Likely) benign	1 lab	156ea563ba
18:56202683 ALPK2 T>C	18	56202683	56202683	T	C	ALPK2	c.4736A>G	NM_052947.4	NP_443179.3:p.(Gln1579Arg)	NC_000018.9:g.56202683T>C	(Likely) benign	1 lab	156f5d02db
6:33747936 LEMD2 G>A	6	33747936	33747936	G	A	LEMD2	c.951C>T	NM_181336.3	NP_851853.1:p.(Ser317=)	NC_000006.11:g.33747936G>A	(Likely) benign	1 lab	15725e98bc
10:17271919 VIM C>G	10	17271919	17271919	C	G	VIM	c.498C>G	NM_003380.4	NP_003371.2:p.(Asn166Lys)	NC_000010.10:g.17271919C>G	VUS	1 lab	15751e7fd4
X:49021422 MAGIX T>A	X	49021422	49021422	T	A	MAGIX	c.501T>A	NM_024859.3	NP_079135.3:p.(Arg167=)	NC_000023.10:g.49021422T>A	(Likely) benign	1 lab	15759635e6
12:11546625 PRB2 A>G	12	11546625	11546625	A	G	PRB2	c.387T>C	NM_006248.4	NP_006239.3:p.(Pro129=)	NC_000012.11:g.11546625A>G	(Likely) benign	1 lab	1578bd22ec
2:3816934 DCDC2C A>G	2	3816934	3816934	A	G	DCDC2C	c.887A>G	NM_001287444.1	NP_001274373.1:p.(Lys296Arg)	NC_000002.11:g.3816934A>G	VUS	1 lab	157a9c260f
17:72916700 USH1G G>C	17	72916700	72916700	G	C	USH1G	c.231C>G	NM_173477.4	NP_775748.2:p.(His77Gln)	NC_000017.10:g.72916700G>C	VUS	1 lab	157b428eb2
17:78084822 GAA C>T	17	78084822	78084822	C	T	GAA	c.1634C>T	NM_000152.3	NP_000143.2:p.(Pro545Leu)	NC_000017.10:g.78084822C>T	(Likely) pathogenic	1 lab	157c995b2c
9:117840223 TNC T>G	9	117840223	117840223	T	G	TNC	c.2673A>C	NM_002160.3	NP_002151.2:p.(Thr891=)	NC_000009.11:g.117840223T>G	(Likely) benign	1 lab	157ca6802a
8:97157543 GDF6 C>T	8	97157543	97157543	C	T	GDF6	c.616G>A	NM_001001557.3	NP_001001557.1:p.(Gly206Arg)	NC_000008.10:g.97157543C>T	VUS	1 lab	157e0582a2
18:34349355 FHOD3 G>A	18	34349355	34349355	G	A	FHOD3	c.4752G>A	NM_001281740.2	NP_001268669.1:p.(Arg1584=)	NC_000018.9:g.34349355G>A	(Likely) benign	1 lab	157f351905
3:186961417 MASP1 A>G	3	186961417	186961417	A	G	MASP1	c.1091-8T>C	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.186961417A>G	(Likely) benign	1 lab	1581cf5709
16:20975042 DNAH3 A>C	16	20975042	20975042	A	C	DNAH3	c.10026T>G	NM_001347886.1	NP_001334815.1:p.(Ile3342Met)	NC_000016.9:g.20975042A>C	VUS	1 lab	1581d43997
6:31994862 C4B G>A	6	31994862	31994862	G	A	C4B	c.2555G>A	NM_001002029.3	NP_001002029.3:p.(Arg852Gln)	NC_000006.11:g.31994862G>A	(Likely) benign	1 lab	15842a8cd2
19:3831542 ZFR2 G>A	19	3831542	3831542	G	A	ZFR2	c.611C>T	NM_015174.2	NP_055989.1:p.(Pro204Leu)	NC_000019.9:g.3831542G>A	(Likely) benign	1 lab	1587c76290
X:128963013 ZDHHC9 G>A	X	128963013	128963013	G	A	ZDHHC9	c.272C>T	NM_016032.4	NP_057116.2:p.(Pro91Leu)	NC_000023.10:g.128963013G>A	VUS	1 lab	e3696089ff
21:36164603 RUNX1 C>G	21	36164603	36164603	C	G	RUNX1	c.1191G>C	NM_001001890.2	NP_001001890.1:p.(Ser397=)	NC_000021.8:g.36164603C>G	(Likely) benign	1 lab	158a26bede
12:1992162 CACNA2D4 G>C	12	1992162	1992162	G	C	CACNA2D4	c.1356C>G	NM_172364.4	NP_758952.4:p.(Tyr452Ter)	NC_000012.11:g.1992162G>C	VUS	1 lab	158a68f15d
2:29519588 ALK A>AGT	2	29519588	29519607	A	AGT	ALK	c.1817+164_1817+165dup	NM_004304.3	NP_004295.2:p.?	NC_000002.11:g.29519606_29519607dup	(Likely) benign	1 lab	158aa05589
4:79328847 FRAS1 C>T	4	79328847	79328847	C	T	FRAS1	c.4160C>T	NM_025074.7	NP_079350.5:p.(Ala1387Val)	NC_000004.11:g.79328847C>T	VUS	1 lab	158d8451e5
X:153693488 PLXNA3 G>A	X	153693488	153693488	G	A	PLXNA3	c.2171G>A	NM_017514.4	NP_059984.3:p.(Arg724Gln)	NC_000023.10:g.153693488G>A	(Likely) benign	1 lab	158dcce244
7:6057632 AIMP2 C>G	7	6057632	6057632	C	G	AIMP2	c.296C>G	NM_001326609.1	NP_001313538.1:p.(Pro99Arg)	NC_000007.13:g.6057632C>G	(Likely) benign	1 lab	158e020fe4
2:152411467 NEB C>T	2	152411467	152411467	C	T	NEB	c.19406G>A	NM_001271208.1	NP_001258137.1:p.(Arg6469Gln)	NC_000002.11:g.152411467C>T	VUS	1 lab	1590c9ab5e
1:234744522 IRF2BP2 G>C	1	234744522	234744522	G	C	IRF2BP2	c.719C>G	NM_182972.2	NP_892017.2:p.(Ser240Cys)	NC_000001.10:g.234744522G>C	(Likely) benign	1 lab	15926a5a9b
7:7613105 MIOS A>G	7	7613105	7613105	A	G	MIOS	c.999A>G	NM_019005.4	NP_061878.3:p.(Thr333=)	NC_000007.13:g.7613105A>G	(Likely) benign	1 lab	15955a1934
14:74970666 LTBP2 G>A	14	74970666	74970666	G	A	LTBP2	c.4545C>T	NM_000428.2	NP_000419.1:p.(Pro1515=)	NC_000014.8:g.74970666G>A	(Likely) benign	1 lab	1596b153f9
20:35075312 DLGAP4 C>A	20	35075312	35075312	C	A	DLGAP4	c.1620C>A	NM_014902.5	NP_055717.2:p.(Gly540=)	NC_000020.10:g.35075312C>A	(Likely) benign	1 lab	15981d862a
2:179628977 TTN G>A	2	179628977	179628977	G	A	TTN	c.10041C>T	NM_001267550.1	NP_001254479.1:p.(Ile3347=)	NC_000002.11:g.179628977G>A	(Likely) benign	1 lab	1598a06474
16:69969836 WWP2 G>A	16	69969836	69969836	G	A	WWP2	c.1923G>A	NM_007014.4	NP_008945.2:p.(Leu641=)	NC_000016.9:g.69969836G>A	(Likely) benign	1 lab	1599ca8d3a
3:130116635 COL6A5 G>A	3	130116635	130116635	G	A	COL6A5	c.3777G>A	NM_001278298.1	NP_001265227.1:p.(Lys1259=)	NC_000003.11:g.130116635G>A	(Likely) benign	1 lab	159b5ea22d
1:74905290 TNNI3K C>A	1	74905290	74905290	C	A	TNNI3K	c.1995C>A	NM_015978.2	NP_057062.1:p.(Phe665Leu)	NC_000001.10:g.74905290C>A	VUS	1 lab	159b8e37b9
1:225594450 LBR T>A	1	225594450	225594450	T	A	LBR	c.1399A>T	NM_194442.2	NP_919424.1:p.(Ile467Phe)	NC_000001.10:g.225594450T>A	(Likely) benign	1 lab	159dca8395
17:17700147 RAI1 G>T	17	17700147	17700147	G	T	RAI1	c.3885G>T	NM_030665.3	NP_109590.3:p.(Pro1295=)	NC_000017.10:g.17700147G>T	(Likely) benign	1 lab	159df66ebd
6:152534783 SYNE1 A>C	6	152534783	152534783	A	C	SYNE1	c.22458T>G	NM_182961.3	NP_892006.3:p.(Asn7486Lys)	NC_000006.11:g.152534783A>C	VUS	1 lab	159e44703d
17:73513014 TSEN54 T>G	17	73513014	73513014	T	G	TSEN54	c.221+23T>G	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73513014T>G	(Likely) benign	1 lab	15a1193a82
16:31289440 ITGAM G>A	16	31289440	31289440	G	A	ITGAM	c.1356+10G>A	NM_001145808.1	NP_001139280.1:p.?	NC_000016.9:g.31289440G>A	(Likely) benign	1 lab	15a2223e5d
3:46942965 PTH1R A>C	3	46942965	46942965	A	C	PTH1R	c.1111A>C	NM_000316.3	NP_000307.1:p.(Ile371Leu)	NC_000003.11:g.46942965A>C	VUS	1 lab	e36e66d927
5:82836105 VCAN C>T	5	82836105	82836105	C	T	VCAN	c.7283C>T	NM_004385.4	NP_004376.2:p.(Pro2428Leu)	NC_000005.9:g.82836105C>T	(Likely) benign	1 lab	15a3c2e43e
15:51250706 AP4E1 C>G	15	51250706	51250706	C	G	AP4E1	c.1566C>G	NM_007347.4	NP_031373.2:p.(Ser522=)	NC_000015.9:g.51250706C>G	(Likely) benign	1 lab	15a419e4ea
14:39502539 SEC23A G>GA	14	39502539	39502545	G	GA	SEC23A	c.2209-8dup	NM_006364.4	NP_006355.2:p.?	NC_000014.8:g.39502545dup	(Likely) benign	1 lab	e36fda5bde
18:56204991 ALPK2 C>T	18	56204991	56204991	C	T	ALPK2	c.2428G>A	NM_052947.4	NP_443179.3:p.(Gly810Ser)	NC_000018.9:g.56204991C>T	(Likely) benign	1 lab	15a48ef3ec
9:135781115 TSC1 T>TG	9	135781115	135781118	T	TG	TSC1	c.1849dup	NM_000368.4	NP_000359.1:p.(His617ProfsTer9)	NC_000009.11:g.135781118dup	(Likely) pathogenic	1 lab	15a4c78b2f
16:72130341 DHX38 G>C	16	72130341	72130341	G	C	DHX38	c.285G>C	NM_014003.3	NP_054722.2:p.(Glu95Asp)	NC_000016.9:g.72130341G>C	VUS	1 lab	15a585f86d
14:95596483 DICER1 C>T	14	95596483	95596483	C	T	DICER1	c.485G>A	NM_030621.4	NP_085124.2:p.(Gly162Asp)	NC_000014.8:g.95596483C>T	(Likely) benign	1 lab	15a5c9ee09
9:130159542 SLC2A8 G>A	9	130159542	130159542	G	A	SLC2A8	c.33G>A	NM_014580.4	NP_055395.2:p.(Pro11=)	NC_000009.11:g.130159542G>A	(Likely) benign	1 lab	15a5dbc97b
15:93588563 RGMA G>A	15	93588563	93588563	G	A	RGMA	c.1018C>T	NM_020211.2	NP_064596.2:p.(Arg340Cys)	NC_000015.9:g.93588563G>A	VUS	1 lab	15a78b5dc6
8:27297912 PTK2B G>A	8	27297912	27297912	G	A	PTK2B	c.1993G>A	NM_173174.2	NP_775266.1:p.(Asp665Asn)	NC_000008.10:g.27297912G>A	(Likely) benign	1 lab	15a9fc077b
1:1422004 ATAD3B C>T	1	1422004	1422004	C	T	ATAD3B	c.1170C>T	NM_031921.5	NP_114127.3:p.(Thr390=)	NC_000001.10:g.1422004C>T	(Likely) benign	1 lab	15aa960f49
7:147926850 CNTNAP2 C>T	7	147926850	147926850	C	T	CNTNAP2	c.3360C>T	NM_014141.6	NP_054860.1:p.(His1120=)	NC_000007.13:g.147926850C>T	(Likely) benign	1 lab	e37423bd14
X:100615699 BTK G>A	X	100615699	100615699	G	A	BTK	c.735C>T	NM_001287344.1	NP_001274273.1:p.(Val245=)	NC_000023.10:g.100615699G>A	(Likely) benign	1 lab	15acb8eb4f
7:103018075 SLC26A5 C>T	7	103018075	103018075	C	T	SLC26A5	c.1957G>A	NM_198999.2	NP_945350.1:p.(Asp653Asn)	NC_000007.13:g.103018075C>T	VUS	1 lab	15ad081acd
17:40825840 PLEKHH3 C>T	17	40825840	40825840	C	T	PLEKHH3	c.311G>A	NM_024927.5	NP_079203.4:p.(Arg104Gln)	NC_000017.10:g.40825840C>T	VUS	1 lab	15ad3e3ccc
8:49832934 SNAI2 C>T	8	49832934	49832934	C	T	SNAI2	c.146G>A	NM_003068.5	NP_003059.1:p.(Ser49Asn)	NC_000008.10:g.49832934C>T	(Likely) benign	1 lab	15ad6e794c
11:1269578 MUC5B C>A	11	1269578	1269578	C	A	MUC5B	c.11468C>A	NM_002458.2	NP_002449.2:p.(Thr3823Lys)	NC_000011.9:g.1269578C>A	(Likely) benign	1 lab	15adfe770e
16:16165537 ABCC1 C>T	16	16165537	16165537	C	T	ABCC1	c.1863C>T	NM_004996.3	NP_004987.2:p.(Ser621=)	NC_000016.9:g.16165537C>T	(Likely) benign	1 lab	15ae0096f4
7:158695222 DYNC2I1 C>T	7	158695222	158695222	C	T	DYNC2I1	c.1293C>T	NM_018051.4	NP_060521.4:p.(Gly431=)	NC_000007.13:g.158695222C>T	(Likely) benign	1 lab	15afd663c9
12:113901059 LHX5 G>A	12	113901059	113901059	G	A	LHX5	c.1145C>T	NM_022363.3	NP_071758.1:p.(Thr382Ile)	NC_000012.11:g.113901059G>A	(Likely) benign	1 lab	15b12c61a0
13:46725183 LCP1 C>T	13	46725183	46725183	C	T	LCP1	c.770G>A	NM_002298.5	NP_002289.2:p.(Ser257Asn)	NC_000013.10:g.46725183C>T	(Likely) benign	1 lab	15b167034f
16:2156531 PKD1 G>A	16	2156531	2156531	G	A	PKD1	c.7357C>T	NM_001009944.2	NP_001009944.2:p.(Arg2453Cys)	NC_000016.9:g.2156531G>A	(Likely) benign	1 lab	15b1e77a3a
11:47256462 DDB2 C>T	11	47256462	47256462	C	T	DDB2	c.857C>T	NM_000107.2	NP_000098.1:p.(Pro286Leu)	NC_000011.9:g.47256462C>T	VUS	1 lab	15b2321618
12:49420919 KMT2D G>C	12	49420919	49420919	G	C	KMT2D	c.14830C>G	NM_003482.3	NP_003473.3:p.(Pro4944Ala)	NC_000012.11:g.49420919G>C	VUS	1 lab	15b27e7a58
10:73550058 CDH23 G>A	10	73550058	73550058	G	A	CDH23	c.5937G>A	NM_022124.5	NP_071407.4:p.(Thr1979=)	NC_000010.10:g.73550058G>A	(Likely) benign	1 lab	15b3d7cd92
11:44286459 ALX4 G>A	11	44286459	44286459	G	A	ALX4	c.1181C>T	NM_021926.4	NP_068745.2:p.(Ala394Val)	NC_000011.9:g.44286459G>A	VUS	1 lab	15b6b88839
1:228492227 OBSCN G>C	1	228492227	228492227	G	C	OBSCN	c.14226G>C	NM_001271223.2	NP_001258152.2:p.(Val4742=)	NC_000001.10:g.228492227G>C	(Likely) benign	1 lab	15b72487f6
X:49022690 MAGIX G>A	X	49022690	49022690	G	A	MAGIX	c.957G>A	NM_024859.3	NP_079135.3:p.(Gly319=)	NC_000023.10:g.49022690G>A	(Likely) benign	1 lab	15b79b039e
11:66114948 B4GAT1 C>G	11	66114948	66114948	C	G	B4GAT1	c.69G>C	NM_006876.2	NP_006867.1:p.(Ala23=)	NC_000011.9:g.66114948C>G	(Likely) benign	1 lab	15b93d0db7
6:161159619 PLG T>C	6	161159619	161159619	T	C	PLG	c.1852T>C	NM_000301.3	NP_000292.1:p.(Leu618=)	NC_000006.11:g.161159619T>C	(Likely) benign	1 lab	15b9dbec38
10:86007496 RGR C>T	10	86007496	86007496	C	T	RGR	c.229C>T	NM_002921.3	NP_002912.2:p.(Leu77Phe)	NC_000010.10:g.86007496C>T	VUS	1 lab	15bb5a9b2e
3:180366086 CCDC39 T>C	3	180366086	180366086	T	C	CCDC39	c.1229A>G	NM_181426.2	NP_852091.1:p.(Gln410Arg)	NC_000003.11:g.180366086T>C	VUS	1 lab	15bc4bc98c
X:153588742 FLNA C>T	X	153588742	153588742	C	T	FLNA	c.3421G>A	NM_001110556.2	NP_001104026.1:p.(Ala1141Thr)	NC_000023.10:g.153588742C>T	(Likely) benign	1 lab	15be13463d
X:46917967 JADE3 A>G	X	46917967	46917967	A	G	JADE3	c.1960A>G	NM_014735.5	NP_055550.1:p.(Asn654Asp)	NC_000023.10:g.46917967A>G	VUS	1 lab	15bf9cd02e
19:39996027 DLL3 C>T	19	39996027	39996027	C	T	DLL3	c.1029C>T	NM_016941.4	NP_058637.1:p.(Pro343=)	NC_000019.9:g.39996027C>T	(Likely) benign	1 lab	e375ed245c
16:89702743 DPEP1 C>T	16	89702743	89702743	C	T	DPEP1	c.309C>T	NM_004413.3	NP_004404.1:p.(Asp103=)	NC_000016.9:g.89702743C>T	(Likely) benign	1 lab	15c0b0963c
4:151729487 LRBA G>A	4	151729487	151729487	G	A	LRBA	c.5369C>T	NM_001367550.1	NP_001354479.1:p.(Pro1790Leu)	NC_000004.11:g.151729487G>A	VUS	1 lab	15c13c4cd1
13:31774256 B3GLCT C>A	13	31774256	31774256	C	A	B3GLCT	c.35C>A	NM_194318.3	NP_919299.3:p.(Pro12Gln)	NC_000013.10:g.31774256C>A	(Likely) benign	1 lab	15c1b933fd
X:138844163 ATP11C T>C	X	138844163	138844163	T	C	ATP11C	c.2606A>G	NM_173694.4	NP_775965.2:p.(Tyr869Cys)	NC_000023.10:g.138844163T>C	VUS	1 lab	15c3106122
2:38958955 GALM C>T	2	38958955	38958955	C	T	GALM	c.855C>T	NM_138801.3	NP_620156.1:p.(Phe285=)	NC_000002.11:g.38958955C>T	(Likely) benign	1 lab	15c325d201
19:17122508 MISSING C>T	19	17122508	17122508	C	T	MISSING				NC_000019.9:g.17122508C>T	(Likely) benign	1 lab	15c32b4c3f
X:30745651 GK G>A	X	30745651	30745651	G	A	GK	c.1651G>A	NM_001205019.1	NP_001191948.1:p.(Gly551Arg)	NC_000023.10:g.30745651G>A	(Likely) benign	1 lab	15c36291dd
2:113763555 IL36A G>C	2	113763555	113763555	G	C	IL36A	c.15G>C	NM_014440.2	NP_055255.1:p.(Leu5Phe)	NC_000002.11:g.113763555G>C	(Likely) benign	1 lab	15c3b5d945
9:100201568 TDRD7 A>G	9	100201568	100201568	A	G	TDRD7	c.605A>G	NM_014290.2	NP_055105.2:p.(His202Arg)	NC_000009.11:g.100201568A>G	VUS	1 lab	15c4f0c164
19:55672129 DNAAF3 G>A	19	55672129	55672129	G	A	DNAAF3	c.1131C>T	NM_001256714.1	NP_001243643.1:p.(Ile377=)	NC_000019.9:g.55672129G>A	(Likely) benign	1 lab	15c5966c96
2:217012977 XRCC5 G>T	2	217012977	217012977	G	T	XRCC5	c.1648G>T	NM_021141.3	NP_066964.1:p.(Ala550Ser)	NC_000002.11:g.217012977G>T	VUS	1 lab	15c75c833f
11:6651824 DCHS1 G>T	11	6651824	6651824	G	T	DCHS1				NC_000011.9:g.6651824G>T	(Likely) benign	1 lab	c8fc399b65
12:66743013 GRIP1 C>T	12	66743013	66743013	C	T	GRIP1	c.3017G>A	NM_021150.3	NP_066973.2:p.(Arg1006Gln)	NC_000012.11:g.66743013C>T	VUS	1 lab	15c94f3348
19:47422613 ARHGAP35 G>GACCTC	19	47422613	47422619	G	GACCTC	ARHGAP35	c.683_687dup	NM_004491.4	NP_004482.4:p.(Ala230ProfsTer7)	NC_000019.9:g.47422615_47422619dup	VUS	1 lab	15cb46c779
19:19680925 PBX4 C>T	19	19680925	19680925	C	T	PBX4	c.625G>A	NM_025245.3	NP_079521.1:p.(Asp209Asn)	NC_000019.9:g.19680925C>T	VUS	1 lab	15cb56da51
20:31388727 DNMT3B G>A	20	31388727	31388727	G	A	DNMT3B	c.1992G>A	NM_006892.3	NP_008823.1:p.(Leu664=)	NC_000020.10:g.31388727G>A	(Likely) benign	1 lab	15cc0211d3
X:11783776 MSL3 T>C	X	11783776	11783776	T	C	MSL3	c.1099T>C	NM_078628.1	NP_523352.1:p.(Ser367Pro)	NC_000023.10:g.11783776T>C	(Likely) benign	1 lab	15cdde84ce
16:2161430 PKD1 G>A	16	2161430	2161430	G	A	PKD1	c.3738C>T	NM_001009944.2	NP_001009944.2:p.(Asp1246=)	NC_000016.9:g.2161430G>A	(Likely) benign	1 lab	15cf8aab67
7:103038459 SLC26A5 G>C	7	103038459	103038459	G	C	SLC26A5	c.891C>G	NM_198999.2	NP_945350.1:p.(Val297=)	NC_000007.13:g.103038459G>C	(Likely) benign	1 lab	15cfa2447f
16:88713207 CYBA C>T	16	88713207	88713207	C	T	CYBA				NC_000016.9:g.88713207C>T	(Likely) benign	1 lab	15cfe63dde
5:135388765 TGFBI C>T	5	135388765	135388765	C	T	TGFBI	c.1083C>T	NM_000358.2	NP_000349.1:p.(Asn361=)	NC_000005.9:g.135388765C>T	(Likely) benign	1 lab	15d1f6977a
2:219527326 BCS1L C>T	2	219527326	219527326	C	T	BCS1L	c.813C>T	NM_004328.4	NP_004319.1:p.(Ser271=)	NC_000002.11:g.219527326C>T	(Likely) benign	1 lab	15d37b1b5f
9:131019939 GOLGA2 G>A	9	131019939	131019939	G	A	GOLGA2	c.2542C>T	NM_004486.5	NP_004477.4:p.(Arg848Trp)	NC_000009.11:g.131019939G>A	VUS	1 lab	e37d2d63e6
2:73829416 ALMS1 G>C	2	73829416	73829416	G	C	ALMS1	c.12222G>C	NM_015120.4	NP_055935.4:p.(Gln4074His)	NC_000002.11:g.73829416G>C	VUS	1 lab	15d5fca685
18:6964700 LAMA1 G>A	18	6964700	6964700	G	A	LAMA1	c.7298C>T	NM_005559.3	NP_005550.2:p.(Pro2433Leu)	NC_000018.9:g.6964700G>A	VUS	1 lab	15d6145be6
12:15794680 EPS8 C>T	12	15794680	15794680	C	T	EPS8	c.1653G>A	NM_004447.5	NP_004438.3:p.(Ser551=)	NC_000012.11:g.15794680C>T	(Likely) benign	1 lab	15d7d149ea
4:39257493 WDR19 C>T	4	39257493	39257493	C	T	WDR19	c.3027C>T	NM_025132.3	NP_079408.3:p.(Asp1009=)	NC_000004.11:g.39257493C>T	(Likely) benign	1 lab	15d87bf813
20:22563374 FOXA2 G>A	20	22563374	22563374	G	A	FOXA2	c.506C>T	NM_021784.5	NP_068556.2:p.(Ser169Leu)	NC_000020.10:g.22563374G>A	(Likely) pathogenic	1 lab	e37d89551e
9:123308072 CDK5RAP2 C>T	9	123308072	123308072	C	T	CDK5RAP2	c.307-4G>A	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123308072C>T	(Likely) benign	1 lab	15da9bbe26
X:69478601 P2RY4 G>A	X	69478601	69478601	G	A	P2RY4	c.874C>T	NM_002565.3	NP_002556.1:p.(Arg292Trp)	NC_000023.10:g.69478601G>A	VUS	1 lab	15dbad551e
17:26943213 BLTP2 G>A	17	26943213	26943213	G	A	BLTP2	c.6291C>T	NM_014680.5	NP_055495.2:p.(His2097=)	NC_000017.10:g.26943213G>A	(Likely) benign	1 lab	15dbda1766
22:50962663 SCO2 G>A	22	50962663	50962663	G	A	SCO2	c.178C>T	NM_001169109.1	NP_001162580.1:p.(Arg60Trp)	NC_000022.10:g.50962663G>A	VUS	1 lab	15df084087
5:149754226 TCOF1 C>T	5	149754226	149754226	C	T	TCOF1	c.1130C>T	NM_001135243.1	NP_001128715.1:p.(Pro377Leu)	NC_000005.9:g.149754226C>T	(Likely) benign	1 lab	15e0e02079
17:29554539 NF1 A>C	17	29554539	29554539	A	C	NF1	c.2326-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554539A>C	(Likely) pathogenic	1 lab	15e18aad8e
16:15781283 NDE1 C>T	16	15781283	15781283	C	T	NDE1	c.438C>T	NM_001143979.1	NP_001137451.1:p.(Ile146=)	NC_000016.9:g.15781283C>T	(Likely) benign	1 lab	15e1af2b5f
15:53081075 ONECUT1 G>C	15	53081075	53081075	G	C	ONECUT1	c.1007C>G	NM_004498.3	NP_004489.1:p.(Pro336Arg)	NC_000015.9:g.53081075G>C	VUS	1 lab	15e2054fae
X:66765369 AR CGA>C	X	66765369	66765376	CGA	C	AR	c.387_388del	NM_000044.6	NP_000035.2:p.(Gly130LeufsTer27)	NC_000023.10:g.66765375_66765376del	(Likely) pathogenic	1 lab	15e2bbaf83
1:228553233 OBSCN A>T	1	228553233	228553233	A	T	OBSCN	c.21906A>T	NM_001271223.2	NP_001258152.2:p.(Thr7302=)	NC_000001.10:g.228553233A>T	(Likely) benign	1 lab	15e3273deb
2:240923146 NDUFA10 T>C	2	240923146	240923146	T	C	NDUFA10	c.999+6345A>G	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240923146T>C	(Likely) benign	1 lab	e380158bd9
3:98304477 CPOX T>C	3	98304477	98304477	T	C	CPOX	c.980A>G	NM_000097.7	NP_000088.3:p.(His327Arg)	NC_000003.11:g.98304477T>C	(Likely) pathogenic	1 lab	15e6418bbc
12:53662574 ESPL1 C>T	12	53662574	53662574	C	T	ESPL1	c.24C>T	NM_012291.4	NP_036423.4:p.(Asn8=)	NC_000012.11:g.53662574C>T	(Likely) benign	1 lab	15e72e3fd9
19:579637 BSG G>A	19	579637	579637	G	A	BSG	c.553G>A	NM_001728.3	NP_001719.2:p.(Gly185Ser)	NC_000019.9:g.579637G>A	(Likely) benign	1 lab	15e76ee6d9
2:179664292 TTN C>A	2	179664292	179664292	C	A	TTN	c.836G>T	NM_133378.4	NP_596869.4:p.(Arg279Leu)	NC_000002.11:g.179664292C>A	VUS	1 lab	e381f87ecb
17:29554311 NF1 T>A	17	29554311	29554311	T	A	NF1	c.2325+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554311T>A	(Likely) pathogenic	1 lab	15e8e0ca9c
1:22986057 C1QB C>G	1	22986057	22986057	C	G	C1QB	c.108C>G	NM_000491.3	NP_000482.3:p.(Ala36=)	NC_000001.10:g.22986057C>G	(Likely) benign	1 lab	15e952028d
1:156106164 LMNA C>T	1	156106164	156106164	C	T	LMNA	c.1317C>T	NM_170707.4	NP_733821.1:p.(Arg439=)	NC_000001.10:g.156106164C>T	(Likely) benign	1 lab	e383445df6
17:18051393 MYO15A G>A	17	18051393	18051393	G	A	MYO15A	c.6560G>A	NM_016239.3	NP_057323.3:p.(Arg2187His)	NC_000017.10:g.18051393G>A	VUS	1 lab	15eb9ff011
5:158524086 EBF1 G>C	5	158524086	158524086	G	C	EBF1	c.187C>G	NM_001290360.2	NP_001277289.1:p.(Arg63Gly)	NC_000005.9:g.158524086G>C	VUS	1 lab	15edb659ff
X:154182235 F8 C>T	X	154182235	154182235	C	T	F8	c.1835G>A	NM_000132.3	NP_000123.1:p.(Arg612His)	NC_000023.10:g.154182235C>T	VUS	1 lab	15ee99a4ac
6:119137132 MCM9 G>A	6	119137132	119137132	G	A	MCM9	c.2287C>T	NM_017696.2	NP_060166.2:p.(Pro763Ser)	NC_000006.11:g.119137132G>A	VUS	1 lab	15eee2cd22
20:50405511 SALL4 C>CTTCCCACA	20	50405511	50405519	C	CTTCCCACA	SALL4	c.2623_2630dup	NM_020436.3	NP_065169.1:p.(Lys877AsnfsTer40)	NC_000020.10:g.50405512_50405519dup	(Likely) pathogenic	1 lab	15ef2691e2
11:57480254 TMX2 A>C	11	57480254	57480254	A	C	TMX2	c.164A>C	NM_015959.4	NP_057043.1:p.(Asp55Ala)	NC_000011.9:g.57480254A>C	(Likely) pathogenic	1 lab	15ef2db2ed
5:38925463 OSMR G>A	5	38925463	38925463	G	A	OSMR	c.2202G>A	NM_003999.2	NP_003990.1:p.(Pro734=)	NC_000005.9:g.38925463G>A	(Likely) benign	1 lab	15ef480dcd
12:46242730 ARID2 A>C	12	46242730	46242730	A	C	ARID2	c.1692A>C	NM_152641.3	NP_689854.2:p.(Ser564=)	NC_000012.11:g.46242730A>C	(Likely) benign	1 lab	15eff201d0
3:9868869 TTLL3 C>T	3	9868869	9868869	C	T	TTLL3	c.1492C>T	NM_001025930.5	NP_001021100.3:p.(Arg498Cys)	NC_000003.11:g.9868869C>T	VUS	1 lab	e383f7cc7d
18:56008947 NEDD4L G>A	18	56008947	56008947	G	A	NEDD4L	c.1295G>A	NM_001144967.2	NP_001138439.1:p.(Ser432Asn)	NC_000018.9:g.56008947G>A	VUS	1 lab	15f0f52fc6
10:55582047 PCDH15 T>G	10	55582047	55582047	T	G	PCDH15	c.5460A>C	NM_001142763.1	NP_001136235.1:p.(Pro1820=)	NC_000010.10:g.55582047T>G	(Likely) benign	1 lab	15f4037382
12:111884812 SH2B3 G>A	12	111884812	111884812	G	A	SH2B3	c.901G>A	NM_005475.2	NP_005466.1:p.(Glu301Lys)	NC_000012.11:g.111884812G>A	VUS	1 lab	15f584ab53
5:145719513 POU4F3 G>T	5	145719513	145719513	G	T	POU4F3	c.523G>T	NM_002700.3	NP_002691.1:p.(Ala175Ser)	NC_000005.9:g.145719513G>T	VUS	1 lab	15f714633c
9:8501026 PTPRD G>C	9	8501026	8501026	G	C	PTPRD	c.1856C>G	NM_002839.4	NP_002830.1:p.(Thr619Ser)	NC_000009.11:g.8501026G>C	VUS	1 lab	e384090170
X:77254023 ATP7A C>T	X	77254023	77254023	C	T	ATP7A	c.1385C>T	NM_000052.6	NP_000043.4:p.(Pro462Leu)	NC_000023.10:g.77254023C>T	(Likely) benign	1 lab	15f7b98516
22:29196495 XBP1 G>A	22	29196495	29196495	G	A	XBP1	c.18C>T	NM_005080.3	NP_005071.2:p.(Ala6=)	NC_000022.10:g.29196495G>A	(Likely) benign	1 lab	15f7e93c4c
14:96761376 ATG2B C>G	14	96761376	96761376	C	G	ATG2B	c.5347G>C	NM_018036.6	NP_060506.5:p.(Val1783Leu)	NC_000014.8:g.96761376C>G	(Likely) benign	1 lab	15fa9fdb27
11:6422643 APBB1 C>T	11	6422643	6422643	C	T	APBB1	c.1514G>A	NM_145689.2	NP_663722.1:p.(Arg505His)	NC_000011.9:g.6422643C>T	VUS	1 lab	15fc4cf4bf
X:48762124 SLC35A2 G>A	X	48762124	48762124	G	A	SLC35A2	c.472C>T	NM_001032289.2	NP_001027460.1:p.(Arg158Cys)	NC_000023.10:g.48762124G>A	(Likely) benign	1 lab	15fd262346
5:94956551 GPR150 T>TGCC	5	94956551	94956569	T	TGCC	GPR150	c.588_590dup	NM_199243.3	NP_954713.1:p.(Pro197dup)	NC_000005.9:g.94956567_94956569dup	VUS	1 lab	15ff2b6afb
11:118513029 PHLDB1 G>A	11	118513029	118513029	G	A	PHLDB1	c.2794G>A	NM_015157.3	NP_055972.1:p.(Ala932Thr)	NC_000011.9:g.118513029G>A	(Likely) benign	1 lab	1600c86447
2:174228004 CDCA7 C>T	2	174228004	174228004	C	T	CDCA7	c.435C>T	NM_031942.4	NP_114148.3:p.(His145=)	NC_000002.11:g.174228004C>T	(Likely) benign	1 lab	1601760825
3:164783116 SI T>C	3	164783116	164783116	T	C	SI	c.740A>G	NM_001041.3	NP_001032.2:p.(Lys247Arg)	NC_000003.11:g.164783116T>C	(Likely) benign	1 lab	160196dc20
1:152281339 FLG T>C	1	152281339	152281339	T	C	FLG	c.6023A>G	NM_002016.1	NP_002007.1:p.(His2008Arg)	NC_000001.10:g.152281339T>C	(Likely) benign	1 lab	16029e736a
1:55352712 DHCR24 G>A	1	55352712	55352712	G	A	DHCR24	c.81C>T	NM_014762.4	NP_055577.1:p.(Leu27=)	NC_000001.10:g.55352712G>A	(Likely) benign	1 lab	1604814ce7
3:132241748 DNAJC13 A>G	3	132241748	132241748	A	G	DNAJC13	c.5750A>G	NM_015268.4	NP_056083.3:p.(His1917Arg)	NC_000003.11:g.132241748A>G	(Likely) benign	1 lab	1604e2cf35
1:237551455 RYR2 T>C	1	237551455	237551455	T	C	RYR2	c.745T>C	NM_001035.2	NP_001026.2:p.(Ser249Pro)	NC_000001.10:g.237551455T>C	VUS	1 lab	1605ee76be
X:30709282 GK G>T	X	30709282	30709282	G	T	GK	c.380G>T	NM_001205019.1	NP_001191948.1:p.(Ser127Ile)	NC_000023.10:g.30709282G>T	(Likely) benign	1 lab	160623d6fe
11:5730831 TRIM22 C>T	11	5730831	5730831	C	T	TRIM22	c.1450C>T	NM_006074.5	NP_006065.2:p.(Pro484Ser)	NC_000011.9:g.5730831C>T	VUS	1 lab	e38468ee7d
3:12645690 RAF1 G>A	3	12645690	12645690	G	A	RAF1	c.779C>T	NM_002880.4	NP_002871.1:p.(Thr260Ile)	NC_000003.11:g.12645690G>A	(Likely) pathogenic	1 lab	e384729e07
14:100381013 EML1 C>T	14	100381013	100381013	C	T	EML1	c.1788C>T	NM_001008707.1	NP_001008707.1:p.(Pro596=)	NC_000014.8:g.100381013C>T	(Likely) benign	1 lab	1609958610
5:131944423 RAD50 A>G	5	131944423	131944423	A	G	RAD50	c.2829+6A>G	NM_005732.3	NP_005723.2:p.?	NC_000005.9:g.131944423A>G	(Likely) benign	1 lab	1609e7acd1
X:41333727 NYX G>A	X	41333727	41333727	G	A	NYX	c.1021G>A	NM_022567.2	NP_072089.1:p.(Asp341Asn)	NC_000023.10:g.41333727G>A	VUS	1 lab	160a793041
12:7249439 C1RL C>T	12	7249439	7249439	C	T	C1RL	c.1012G>A	NM_016546.4	NP_057630.2:p.(Gly338Arg)	NC_000012.11:g.7249439C>T	VUS	1 lab	160af98e8a
7:151945313 KMT2C A>G	7	151945313	151945313	A	G	KMT2C	c.2206T>C	NM_170606.2	NP_733751.2:p.(Leu736=)	NC_000007.13:g.151945313A>G	(Likely) benign	1 lab	160bc8ae52
4:187003675 TLR3 C>T	4	187003675	187003675	C	T	TLR3	c.835C>T	NM_003265.2	NP_003256.1:p.(Leu279Phe)	NC_000004.11:g.187003675C>T	VUS	1 lab	160c3c538e
8:55542497 RP1 G>A	8	55542497	55542497	G	A	RP1	c.6055G>A	NM_006269.1	NP_006260.1:p.(Gly2019Ser)	NC_000008.10:g.55542497G>A	(Likely) benign	1 lab	160d145e75
1:152770311 LCE1D CCAAGTGCA>C	1	152770311	152770320	CCAAGTGCA	C	LCE1D	c.43_50del	NM_178352.3	NP_848129.1:p.(Lys15SerfsTer11)	NC_000001.10:g.152770313_152770320del	(Likely) benign	1 lab	160d278555
16:2137898 TSC2 C>T	16	2137898	2137898	C	T	TSC2	c.5024C>T	NM_000548.3	NP_000539.2:p.(Pro1675Leu)	NC_000016.9:g.2137898C>T	(Likely) pathogenic	1 lab	160eef3ac5
7:5781025 RNF216 A>G	7	5781025	5781025	A	G	RNF216	c.623T>C	NM_207111.3	NP_996994.1:p.(Leu208Pro)	NC_000007.13:g.5781025A>G	VUS	1 lab	160fda0971
7:66104185 KCTD7 G>A	7	66104185	66104185	G	A	KCTD7	c.836G>A	NM_153033.4	NP_694578.1:p.(Arg279His)	NC_000007.13:g.66104185G>A	VUS	1 lab	161085e03b
1:248790278 OR2T11 C>T	1	248790278	248790278	C	T	OR2T11	c.152G>A	NM_001001964.1	NP_001001964.1:p.(Arg51His)	NC_000001.10:g.248790278C>T	(Likely) benign	1 lab	1610f6c2e2
9:133948152 LAMC3 C>G	9	133948152	133948152	C	G	LAMC3	c.3347C>G	NM_006059.3	NP_006050.3:p.(Ala1116Gly)	NC_000009.11:g.133948152C>G	(Likely) benign	1 lab	1611bd11d1
X:26157782 MAGEB18 G>C	X	26157782	26157782	G	C	MAGEB18	c.680G>C	NM_173699.3	NP_775970.1:p.(Gly227Ala)	NC_000023.10:g.26157782G>C	(Likely) benign	1 lab	16120b9828
10:101565157 ABCC2 A>G	10	101565157	101565157	A	G	ABCC2	c.1483A>G	NM_000392.5	NP_000383.2:p.(Lys495Glu)	NC_000010.10:g.101565157A>G	VUS	1 lab	16122ee6a4
20:45362418 SLC2A10 G>A	20	45362418	45362418	G	A	SLC2A10	c.1571G>A	NM_030777.3	NP_110404.1:p.(Arg524Lys)	NC_000020.10:g.45362418G>A	(Likely) benign	1 lab	1613d203d9
2:179577846 TTN A>G	2	179577846	179577846	A	G	TTN	c.27015T>C	NM_001267550.1	NP_001254479.1:p.(Gly9005=)	NC_000002.11:g.179577846A>G	(Likely) benign	1 lab	16181d48db
2:196866395 DNAH7 T>G	2	196866395	196866395	T	G	DNAH7	c.1173+4A>C	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196866395T>G	VUS	1 lab	16198e56af
12:132380345 MISSING C>T	12	132380345	132380345	C	T	MISSING				NC_000012.11:g.132380345C>T	(Likely) benign	1 lab	1619a87b55
X:66766381 AR GGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGA>G	X	66766381	66766418	GGCGGCGGCGGCGGCGGCGGCGGCGGCGAGGCGGGA	G	AR	c.1396_1430del	NM_000044.6	NP_000035.2:p.(Gly466CysfsTer24)	NC_000023.10:g.66766384_66766418del	(Likely) pathogenic	1 lab	161a990e81
13:32937423 BRCA2 C>A	13	32937423	32937423	C	A	BRCA2	c.8084C>A	NM_000059.4	NP_000050.3:p.(Ser2695Ter)	NC_000013.10:g.32937423C>A	(Likely) pathogenic	1 lab	e3861eab85
3:69915472 MITF C>T	3	69915472	69915472	C	T	MITF	c.31C>T	NM_198177.2	NP_937820.1:p.(Pro11Ser)	NC_000003.11:g.69915472C>T	(Likely) benign	1 lab	161abe2739
22:51160557 MISSING G>A	22	51160557	51160557	G	A	MISSING				NC_000022.10:g.51160557G>A	(Likely) benign	1 lab	afdfffa9f4
12:100790110 SLC17A8 T>C	12	100790110	100790110	T	C	SLC17A8	c.591T>C	NM_139319.2	NP_647480.1:p.(Gly197=)	NC_000012.11:g.100790110T>C	(Likely) benign	1 lab	161b8a8dec
X:114426341 RBMXL3 C>T	X	114426341	114426341	C	T	RBMXL3	c.2337C>T	NM_001145346.1	NP_001138818.1:p.(Tyr779=)	NC_000023.10:g.114426341C>T	(Likely) benign	1 lab	161bb8c914
13:32905004 BRCA2 T>C	13	32905004	32905004	T	C	BRCA2	c.682-52T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905004T>C	(Likely) benign	1 lab	161c0be48f
16:14042215 ERCC4 C>T	16	14042215	14042215	C	T	ERCC4	c.*11C>T	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14042215C>T	(Likely) benign	1 lab	e3893869b4
19:6679429 C3 C>T	19	6679429	6679429	C	T	C3	c.4535G>A	NM_000064.2	NP_000055.2:p.(Arg1512His)	NC_000019.9:g.6679429C>T	VUS	1 lab	161cb16610
11:108117793 ATM G>T	11	108117793	108117793	G	T	ATM	c.1004G>T	NM_000051.3	NP_000042.3:p.(Gly335Val)	NC_000011.9:g.108117793G>T	VUS	1 lab	161e5e3eb1
X:37665651 CYBB C>T	X	37665651	37665651	C	T	CYBB	c.1326C>T	NM_000397.3	NP_000388.2:p.(Tyr442=)	NC_000023.10:g.37665651C>T	(Likely) benign	1 lab	162337c811
8:17922011 ASAH1 C>T	8	17922011	17922011	C	T	ASAH1	c.412G>A	NM_177924.5	NP_808592.2:p.(Glu138Lys)	NC_000008.10:g.17922011C>T	VUS	1 lab	1623f90e53
1:150479525 TARS2 C>T	1	150479525	150479525	C	T	TARS2	c.2142C>T	NM_025150.4	NP_079426.2:p.(Ala714=)	NC_000001.10:g.150479525C>T	(Likely) benign	1 lab	1624648a02
X:68049341 EFNB1 C>G	X	68049341	68049341	C	G	EFNB1	c.-279C>G	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68049341C>G	(Likely) benign	1 lab	18dddc2af1
14:55510054 SOCS4 G>A	14	55510054	55510054	G	A	SOCS4	c.295G>A	NM_199421.2	NP_955453.1:p.(Val99Met)	NC_000014.8:g.55510054G>A	(Likely) benign	1 lab	16251b2864
19:7509120 ARHGEF18 G>A	19	7509120	7509120	G	A	ARHGEF18	c.665G>A	NM_001130955.2	NP_001124427.2:p.(Arg222Gln)	NC_000019.9:g.7509120G>A	VUS	1 lab	16256806a7
7:86574345 ELAPOR2 C>T	7	86574345	86574345	C	T	ELAPOR2	c.524G>A	NM_001142749.3	NP_001136221.1:p.(Arg175His)	NC_000007.13:g.86574345C>T	(Likely) benign	1 lab	1625890b40
1:2436005 PLCH2 T>A	1	2436005	2436005	T	A	PLCH2	c.3604T>A	NM_014638.4	NP_055453.2:p.(Ser1202Thr)	NC_000001.10:g.2436005T>A	VUS	1 lab	1625b675c3
3:58111474 FLNB G>A	3	58111474	58111474	G	A	FLNB	c.4061+4G>A	NM_001164317.1	NP_001157789.1:p.?	NC_000003.11:g.58111474G>A	(Likely) benign	1 lab	1626a248fa
5:131552954 P4HA2 C>A	5	131552954	131552954	C	A	P4HA2	c.267G>T	NM_001142599.1	NP_001136071.1:p.(Leu89=)	NC_000005.9:g.131552954C>A	(Likely) benign	1 lab	1628913ce6
10:104171984 PSD G>A	10	104171984	104171984	G	A	PSD	c.1749C>T	NM_002779.5	NP_002770.3:p.(Asn583=)	NC_000010.10:g.104171984G>A	(Likely) benign	1 lab	162a01808c
7:142749654 OR6V1 A>G	7	142749654	142749654	A	G	OR6V1	c.217A>G	NM_001001667.1	NP_001001667.1:p.(Met73Val)	NC_000007.13:g.142749654A>G	(Likely) benign	1 lab	162a2cf57f
7:150878399 ASB10 C>T	7	150878399	150878399	C	T	ASB10	c.731G>A	NM_001142460.1	NP_001135932.2:p.(Arg244His)	NC_000007.13:g.150878399C>T	(Likely) benign	1 lab	162e362af5
19:50086850 PRRG2 G>A	19	50086850	50086850	G	A	PRRG2	c.68G>A	NM_001316335.1	NP_001303264.1:p.(Arg23Gln)	NC_000019.9:g.50086850G>A	VUS	1 lab	1633c8dcc6
15:79606248 TMED3 T>C	15	79606248	79606248	T	C	TMED3	c.318T>C	NM_007364.4	NP_031390.1:p.(Phe106=)	NC_000015.9:g.79606248T>C	(Likely) benign	1 lab	16341c7279
5:35876373 IL7R G>C	5	35876373	35876373	G	C	IL7R				NC_000005.9:g.35876373G>C	(Likely) benign	1 lab	39a47659eb
2:179584037 TTN C>T	2	179584037	179584037	C	T	TTN	c.24080G>A	NM_001267550.1	NP_001254479.1:p.(Ser8027Asn)	NC_000002.11:g.179584037C>T	VUS	1 lab	16351345d4
19:38056810 ZNF571 T>TC	19	38056810	38056812	T	TC	ZNF571	c.519dup	NM_001321272.1	NP_001308201.1:p.(Asn174GlufsTer4)	NC_000019.9:g.38056812dup	VUS	1 lab	163b11c3e9
6:152553292 SYNE1 T>C	6	152553292	152553292	T	C	SYNE1	c.20821A>G	NM_182961.3	NP_892006.3:p.(Ile6941Val)	NC_000006.11:g.152553292T>C	(Likely) benign	1 lab	163b27cd46
2:179408713 TTN A>G	2	179408713	179408713	A	G	TTN	c.96158T>C	NM_001267550.2	NP_001254479.2:p.(Ile32053Thr)	NC_000002.11:g.179408713A>G	(Likely) benign	1 lab	e3925dbf80
X:140995437 MAGEC1 C>T	X	140995437	140995437	C	T	MAGEC1	c.2247C>T	NM_005462.4	NP_005453.2:p.(Ser749=)	NC_000023.10:g.140995437C>T	(Likely) benign	1 lab	163e17fd70
2:96962717 SNRNP200 C>T	2	96962717	96962717	C	T	SNRNP200	c.1469G>A	NM_014014.4	NP_054733.2:p.(Arg490His)	NC_000002.11:g.96962717C>T	VUS	1 lab	163e1a8632
1:183184616 LAMC2 C>T	1	183184616	183184616	C	T	LAMC2	c.297C>T	NM_005562.3	NP_005553.2:p.(Ser99=)	NC_000001.10:g.183184616C>T	(Likely) benign	1 lab	e3941b5df8
9:117849283 TNC C>T	9	117849283	117849283	C	T	TNC	c.727G>A	NM_002160.3	NP_002151.2:p.(Ala243Thr)	NC_000009.11:g.117849283C>T	(Likely) benign	1 lab	163f8a27a7
1:11849447 MTHFR A>G	1	11849447	11849447	A	G	MTHFR	c.*1290T>C	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11849447A>G	(Likely) benign	1 lab	1645cfac2d
17:2573499 PAFAH1B1 G>T	17	2573499	2573499	G	T	PAFAH1B1	c.442G>T	NM_000430.3	NP_000421.1:p.(Gly148Ter)	NC_000017.10:g.2573499G>T	(Likely) pathogenic	1 lab	164636d41c
1:211846971 NEK2 C>A	1	211846971	211846971	C	A	NEK2	c.409G>T	NM_002497.4	NP_002488.1:p.(Val137Leu)	NC_000001.10:g.211846971C>A	VUS	1 lab	164781117c
16:17564537 XYLT1 G>A	16	17564537	17564537	G	A	XYLT1	c.117C>T	NM_022166.3	NP_071449.1:p.(Asp39=)	NC_000016.9:g.17564537G>A	(Likely) benign	1 lab	1647b335c2
11:2192974 TH G>A	11	2192974	2192974	G	A	TH	c.43C>T	NM_199292.2	NP_954986.2:p.(Arg15Cys)	NC_000011.9:g.2192974G>A	VUS	1 lab	1647e43bbf
10:73491943 CDH23 C>T	10	73491943	73491943	C	T	CDH23	c.3915C>T	NM_022124.5	NP_071407.4:p.(Asn1305=)	NC_000010.10:g.73491943C>T	(Likely) benign	1 lab	164ab17d59
9:13205072 MPDZ C>T	9	13205072	13205072	C	T	MPDZ	c.1509G>A	NM_001330637.1	NP_001317566.1:p.(Ser503=)	NC_000009.11:g.13205072C>T	(Likely) benign	1 lab	164c014154
12:80199944 PPP1R12A A>G	12	80199944	80199944	A	G	PPP1R12A	c.1823+2T>C	NM_001244990.2	NP_001231919.1:p.?	NC_000012.11:g.80199944A>G	VUS	1 lab	e394ab0c07
22:19951804 COMT G>A	22	19951804	19951804	G	A	COMT	c.597G>A	NM_000754.3	NP_000745.1:p.(Pro199=)	NC_000022.10:g.19951804G>A	(Likely) benign	1 lab	164ffbb325
14:76431929 TGFB3 A>G	14	76431929	76431929	A	G	TGFB3	c.754+2T>C	NM_003239.2	NP_003230.1:p.?	NC_000014.8:g.76431929A>G	(Likely) pathogenic	1 lab	16508e4b83
4:88535140 DSPP T>C	4	88535140	88535140	T	C	DSPP	c.1326T>C	NM_014208.3	NP_055023.2:p.(Gly442=)	NC_000004.11:g.88535140T>C	(Likely) benign	1 lab	16509b66f9
X:152825328 ATP2B3 C>T	X	152825328	152825328	C	T	ATP2B3	c.2767C>T	NM_021949.3	NP_068768.2:p.(Arg923Cys)	NC_000023.10:g.152825328C>T	VUS	1 lab	1650c3c2da
6:42936039 PEX6 G>T	6	42936039	42936039	G	T	PEX6	c.1677C>A	NM_000287.3	NP_000278.3:p.(Asp559Glu)	NC_000006.11:g.42936039G>T	(Likely) benign	1 lab	16526e9122
2:26741908 OTOF C>T	2	26741908	26741908	C	T	OTOF	c.297G>A	NM_194248.2	NP_919224.1:p.(Thr99=)	NC_000002.11:g.26741908C>T	(Likely) benign	1 lab	1652a88ad4
14:55369171 GCH1 G>A	14	55369171	55369171	G	A	GCH1	c.211C>T	NM_000161.2	NP_000152.1:p.(Leu71=)	NC_000014.8:g.55369171G>A	(Likely) benign	1 lab	1652ed2eb8
1:6505917 ESPN A>G	1	6505917	6505917	A	G	ESPN	c.1386A>G	NM_031475.3	NP_113663.2:p.(Val462=)	NC_000001.10:g.6505917A>G	(Likely) benign	1 lab	16534d61b3
1:201038636 CACNA1S C>T	1	201038636	201038636	C	T	CACNA1S	c.2454G>A	NM_000069.2	NP_000060.2:p.(Ala818=)	NC_000001.10:g.201038636C>T	(Likely) benign	1 lab	1653a16c29
X:71684430 HDAC8 C>G	X	71684430	71684430	C	G	HDAC8	c.889G>C	NM_018486.3	NP_060956.1:p.(Ala297Pro)	NC_000023.10:g.71684430C>G	(Likely) benign	1 lab	e398198a09
X:153592442 FLNA T>C	X	153592442	153592442	T	C	FLNA	c.2228A>G	NM_001110556.2	NP_001104026.1:p.(His743Arg)	NC_000023.10:g.153592442T>C	VUS	1 lab	16557fc01b
X:119037292 AKAP14 T>C	X	119037292	119037292	T	C	AKAP14	c.106T>C	NM_178813.5	NP_848928.1:p.(Leu36=)	NC_000023.10:g.119037292T>C	(Likely) benign	1 lab	16559590a8
18:52988946 TCF4 C>A	18	52988946	52988946	C	A	TCF4	c.24G>T	NM_001243234.1	NP_001230163.1:p.(Pro8=)	NC_000018.9:g.52988946C>A	(Likely) benign	1 lab	1655e2a531
17:29559199 NF1 AT>A	17	29559199	29559202	AT	A	NF1	c.3309del	NM_001042492.3	NP_001035957.1:p.(Lys1105AsnfsTer7)	NC_000017.10:g.29559202del	(Likely) pathogenic	1 lab	16562db58f
1:19570451 EMC1 G>A	1	19570451	19570451	G	A	EMC1	c.279C>T	NM_015047.2	NP_055862.1:p.(His93=)	NC_000001.10:g.19570451G>A	(Likely) benign	1 lab	165734f338
9:446588 DOCK8 C>T	9	446588	446588	C	T	DOCK8	c.5799C>T	NM_203447.3	NP_982272.2:p.(Ser1933=)	NC_000009.11:g.446588C>T	(Likely) benign	1 lab	165797395a
10:26417450 MYO3A GT>G	10	26417450	26417451	GT	G	MYO3A	c.2246del	NM_017433.5	NP_059129.3:p.(Val749GlyfsTer10)	NC_000010.10:g.26417451del	(Likely) pathogenic	1 lab	1659a6a974
17:29527513 NF1 C>CA	17	29527513	29527515	C	CA	NF1	c.964dup	NM_000267.3	NP_000258.1:p.(Ile322AsnfsTer8)	NC_000017.10:g.29527515dup	(Likely) pathogenic	1 lab	1659e23d18
2:202611400 ALS2 T>C	2	202611400	202611400	T	C	ALS2	c.1887A>G	NM_020919.3	NP_065970.2:p.(Glu629=)	NC_000002.11:g.202611400T>C	(Likely) benign	1 lab	165aea10a0
17:79503162 FSCN2 C>T	17	79503162	79503162	C	T	FSCN2	c.984-10C>T	NM_001077182.2	NP_001070650.1:p.?	NC_000017.10:g.79503162C>T	(Likely) benign	1 lab	165bcabb60
10:81317360 SFTPA2 A>G	10	81317360	81317360	A	G	SFTPA2	c.371-19T>C	NM_001098668.4	NP_001092138.1:p.?	NC_000010.10:g.81317360A>G	(Likely) benign	1 lab	e399f75cb1
8:11407659 BLK G>A	8	11407659	11407659	G	A	BLK	c.369-9G>A	NM_001715.2	NP_001706.2:p.?	NC_000008.10:g.11407659G>A	(Likely) benign	1 lab	165f1e4f2d
19:9577952 ZNF560 T>C	19	9577952	9577952	T	C	ZNF560	c.1671A>G	NM_152476.2	NP_689689.2:p.(Ser557=)	NC_000019.9:g.9577952T>C	(Likely) benign	1 lab	165f7f5597
4:152577549 FHIP1A G>A	4	152577549	152577549	G	A	FHIP1A	c.2717G>A	NM_001109977.3	NP_001103447.1:p.(Arg906His)	NC_000004.11:g.152577549G>A	(Likely) benign	1 lab	1660ac9c58
20:61847226 YTHDF1 C>T	20	61847226	61847226	C	T	YTHDF1	c.19G>A	NM_017798.4	NP_060268.2:p.(Asp7Asn)	NC_000020.10:g.61847226C>T	(Likely) benign	1 lab	16618b0b82
15:90172238 KIF7 G>A	15	90172238	90172238	G	A	KIF7	c.3633C>T	NM_198525.2	NP_940927.2:p.(Leu1211=)	NC_000015.9:g.90172238G>A	(Likely) benign	1 lab	166192a3ad
11:44129463 EXT2 G>A	11	44129463	44129463	G	A	EXT2	c.201G>A	NM_001178083.1	NP_001171554.1:p.(Pro67=)	NC_000011.9:g.44129463G>A	(Likely) benign	1 lab	16629a44b3
6:129637235 LAMA2 G>A	6	129637235	129637235	G	A	LAMA2	c.3977G>A	NM_000426.3	NP_000417.2:p.(Arg1326Gln)	NC_000006.11:g.129637235G>A	VUS	1 lab	1662eb68f3
X:153608320 EMD G>A	X	153608320	153608320	G	A	EMD	c.206G>A	NM_000117.2	NP_000108.1:p.(Gly69Glu)	NC_000023.10:g.153608320G>A	(Likely) benign	1 lab	16636140c3
X:47446020 TIMP1 G>A	X	47446020	47446020	G	A	TIMP1	c.554G>A	NM_003254.2	NP_003245.1:p.(Arg185His)	NC_000023.10:g.47446020G>A	(Likely) benign	1 lab	1664025a74
1:215848321 USH2A A>G	1	215848321	215848321	A	G	USH2A	c.12932T>C	NM_206933.2	NP_996816.2:p.(Phe4311Ser)	NC_000001.10:g.215848321A>G	VUS	1 lab	1664cc0b52
17:79477863 ACTG1 C>CA	17	79477863	79477866	C	CA	ACTG1	c.985-5dup	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79477866dup	(Likely) benign	1 lab	16652cb0e3
6:152443612 SYNE1 G>A	6	152443612	152443612	G	A	SYNE1	c.26353C>T	NM_182961.3	NP_892006.3:p.(His8785Tyr)	NC_000006.11:g.152443612G>A	VUS	1 lab	166535aae4
7:82764800 PCLO G>A	7	82764800	82764800	G	A	PCLO	c.2066C>T	NM_033026.5	NP_149015.2:p.(Ala689Val)	NC_000007.13:g.82764800G>A	(Likely) benign	1 lab	1666124c8b
20:40045330 CHD6 C>T	20	40045330	40045330	C	T	CHD6	c.6384G>A	NM_032221.4	NP_115597.3:p.(Pro2128=)	NC_000020.10:g.40045330C>T	(Likely) benign	1 lab	16666c1314
17:3919620 ZZEF1 G>C	17	3919620	3919620	G	C	ZZEF1	c.8142C>G	NM_015113.4	NP_055928.3:p.(Phe2714Leu)	NC_000017.10:g.3919620G>C	VUS	1 lab	166b2f5122
8:145003910 PLEC C>T	8	145003910	145003910	C	T	PLEC	c.3238G>A	NM_201380.3	NP_958782.1:p.(Ala1080Thr)	NC_000008.10:g.145003910C>T	VUS	1 lab	167022e0e0
11:17593717 OTOG C>T	11	17593717	17593717	C	T	OTOG	c.2082C>T	NM_001277269.1	NP_001264198.1:p.(Ser694=)	NC_000011.9:g.17593717C>T	(Likely) benign	1 lab	1670c05079
13:39266014 FREM2 C>T	13	39266014	39266014	C	T	FREM2	c.4533C>T	NM_207361.5	NP_997244.4:p.(Val1511=)	NC_000013.10:g.39266014C>T	(Likely) benign	1 lab	167123d355
3:40085760 MYRIP G>A	3	40085760	40085760	G	A	MYRIP	c.200G>A	NM_001284425.1	NP_001271354.1:p.(Arg67Gln)	NC_000003.11:g.40085760G>A	(Likely) benign	1 lab	1672a10554
1:43817891 MPL C>T	1	43817891	43817891	C	T	MPL	c.1570C>T	NM_005373.2	NP_005364.1:p.(Leu524=)	NC_000001.10:g.43817891C>T	(Likely) benign	1 lab	1673937102
19:50795642 MYH14 A>G	19	50795642	50795642	A	G	MYH14	c.5252A>G	NM_001145809.1	NP_001139281.1:p.(Gln1751Arg)	NC_000019.9:g.50795642A>G	VUS	1 lab	1675363ea1
2:98804586 VWA3B G>A	2	98804586	98804586	G	A	VWA3B	c.1460G>A	NM_144992.4	NP_659429.4:p.(Arg487Gln)	NC_000002.11:g.98804586G>A	(Likely) benign	1 lab	1676f6a88d
5:148407275 SH3TC2 T>C	5	148407275	148407275	T	C	SH3TC2	c.2020A>G	NM_024577.3	NP_078853.2:p.(Ser674Gly)	NC_000005.9:g.148407275T>C	(Likely) benign	1 lab	1679f962ce
7:128415611 OPN1SW G>A	7	128415611	128415611	G	A	OPN1SW	c.234C>T	NM_001708.2	NP_001699.1:p.(Phe78=)	NC_000007.13:g.128415611G>A	(Likely) benign	1 lab	167a41b59f
4:79188096 FRAS1 G>A	4	79188096	79188096	G	A	FRAS1	c.789+7G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79188096G>A	(Likely) benign	1 lab	167b600d89
17:26861773 FOXN1 C>T	17	26861773	26861773	C	T	FOXN1	c.1184C>T	NM_003593.2	NP_003584.2:p.(Pro395Leu)	NC_000017.10:g.26861773C>T	(Likely) benign	1 lab	167c0032b8
5:41870445 OXCT1 G>A	5	41870445	41870445	G	A	OXCT1	c.16C>T	NM_000436.3	NP_000427.1:p.(Leu6Phe)	NC_000005.9:g.41870445G>A	(Likely) benign	1 lab	167cc319f4
6:110085194 FIG4 A>G	6	110085194	110085194	A	G	FIG4	c.1434+9A>G	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110085194A>G	(Likely) benign	1 lab	167cea053d
2:103353152 SLC67A2 CG>C	2	103353152	103353154	CG	C	SLC67A2	c.117del	NM_032718.5	NP_116107.3:p.(Val40SerfsTer28)	NC_000002.11:g.103353154del	VUS	1 lab	167d48e885
X:152585776 PNMA6F T>C	X	152585776	152585776	T	C	PNMA6F	c.357A>G	NM_001354980.1	NP_001341909.1:p.(Glu119=)	NC_000023.10:g.152585776T>C	VUS	1 lab	167de66bcb
2:71211996 ANKRD53 A>G	2	71211996	71211996	A	G	ANKRD53	c.1159A>G	NM_001115116.2	NP_001108588.1:p.(Asn387Asp)	NC_000002.11:g.71211996A>G	VUS	1 lab	16801af97b
12:56478899 ERBB3 G>A	12	56478899	56478899	G	A	ERBB3	c.355G>A	NM_001982.4	NP_001973.2:p.(Val119Ile)	NC_000012.11:g.56478899G>A	VUS	1 lab	e39bde5472
12:49444212 KMT2D G>A	12	49444212	49444212	G	A	KMT2D	c.3159C>T	NM_003482.3	NP_003473.3:p.(Ser1053=)	NC_000012.11:g.49444212G>A	(Likely) benign	1 lab	16831f65e3
5:108704318 PJA2 T>C	5	108704318	108704318	T	C	PJA2	c.1413A>G	NM_014819.5	NP_055634.3:p.(Leu471=)	NC_000005.9:g.108704318T>C	(Likely) benign	1 lab	1683753f38
9:325717 DOCK8 G>A	9	325717	325717	G	A	DOCK8	c.874G>A	NM_203447.3	NP_982272.2:p.(Asp292Asn)	NC_000009.11:g.325717G>A	VUS	1 lab	168457aa7f
18:42531179 SETBP1 G>A	18	42531179	42531179	G	A	SETBP1	c.1874G>A	NM_015559.3	NP_056374.2:p.(Arg625Gln)	NC_000018.9:g.42531179G>A	VUS	1 lab	168765365e
7:129074440 STRIP2 G>C	7	129074440	129074440	G	C	STRIP2	c.127G>C	NM_020704.3	NP_065755.1:p.(Glu43Gln)	NC_000007.13:g.129074440G>C	VUS	1 lab	16886a4605
16:89986130 TUBB3 T>C	16	89986130	89986130	T	C	TUBB3				NC_000016.9:g.89986130T>C	(Likely) benign	1 lab	e39ebf22f4
9:37782012 EXOSC3 A>AGGCTT	9	37782012	37782013	A	AGGCTT	EXOSC3	c.596_597insAAGCC	NM_016042.3	NP_057126.2:p.(Phe200SerfsTer5)	NC_000009.11:g.37782012_37782013insGGCTT	VUS	1 lab	1689caca03
X:152226868 PNMA3 A>G	X	152226868	152226868	A	G	PNMA3	c.1335A>G	NM_001282535.1	NP_001269464.1:p.(Gly445=)	NC_000023.10:g.152226868A>G	(Likely) benign	1 lab	168cac29d2
3:56696435 TASOR G>A	3	56696435	56696435	G	A	TASOR	c.1138C>T	NM_001112736.1	NP_001106207.1:p.(Arg380Cys)	NC_000003.11:g.56696435G>A	VUS	1 lab	168caee58c
7:5568885 ACTB G>A	7	5568885	5568885	G	A	ACTB	c.270C>T	NM_001101.3	NP_001092.1:p.(Phe90=)	NC_000007.13:g.5568885G>A	(Likely) benign	1 lab	168d990068
12:49444932 KMT2D C>A	12	49444932	49444932	C	A	KMT2D	c.2534G>T	NM_003482.4	NP_003473.3:p.(Arg845Leu)	NC_000012.11:g.49444932C>A	(Likely) benign	1 lab	e39ec02141
2:131796522 ARHGEF4 G>A	2	131796522	131796522	G	A	ARHGEF4	c.4222G>A	NM_001367493.1	NP_001354422.1:p.(Glu1408Lys)	NC_000002.11:g.131796522G>A	VUS	1 lab	169195fc41
17:76420174 DNAH17 G>A	17	76420174	76420174	G	A	DNAH17	c.13202C>T	NM_173628.3	NP_775899.3:p.(Pro4401Leu)	NC_000017.10:g.76420174G>A	VUS	1 lab	16926ade3d
X:150349151 GPR50 C>T	X	150349151	150349151	C	T	GPR50	c.1096C>T	NM_004224.3	NP_004215.2:p.(Arg366Trp)	NC_000023.10:g.150349151C>T	(Likely) benign	1 lab	16978a33f3
7:4827318 AP5Z1 G>A	7	4827318	4827318	G	A	AP5Z1	c.1365G>A	NM_014855.3	NP_055670.1:p.(Pro455=)	NC_000007.13:g.4827318G>A	(Likely) benign	1 lab	16994cbf28
10:61831955 ANK3 T>C	10	61831955	61831955	T	C	ANK3	c.8684A>G	NM_020987.5	NP_066267.2:p.(Asn2895Ser)	NC_000010.10:g.61831955T>C	(Likely) benign	1 lab	16999667e4
X:101139168 ZMAT1 T>C	X	101139168	101139168	T	C	ZMAT1	c.718A>G	NM_001282400.1	NP_001269329.1:p.(Lys240Glu)	NC_000023.10:g.101139168T>C	VUS	1 lab	1699eeec6e
X:32360389 DMD C>G	X	32360389	32360389	C	G	DMD	c.5750G>C	NM_004006.3	NP_003997.2:p.(Arg1917Pro)	NC_000023.10:g.32360389C>G	VUS	1 lab	e3a25f759c
11:111915866 DLAT C>T	11	111915866	111915866	C	T	DLAT	c.1202C>T	NM_001931.4	NP_001922.2:p.(Pro401Leu)	NC_000011.9:g.111915866C>T	VUS	1 lab	169ab8f195
X:70357102 MED12 A>G	X	70357102	70357102	A	G	MED12	c.5617A>G	NM_005120.2	NP_005111.2:p.(Thr1873Ala)	NC_000023.10:g.70357102A>G	(Likely) benign	1 lab	169aeba66d
7:65546814 ASL T>C	7	65546814	65546814	T	C	ASL	c.37T>C	NM_001024943.1	NP_001020114.1:p.(Phe13Leu)	NC_000007.13:g.65546814T>C	VUS	1 lab	169b9d6a3c
12:6125257 VWF T>C	12	6125257	6125257	T	C	VWF	c.5453A>G	NM_000552.3	NP_000543.2:p.(Asn1818Ser)	NC_000012.11:g.6125257T>C	(Likely) benign	1 lab	169b9d79ec
16:49672302 ZNF423 G>A	16	49672302	49672302	G	A	ZNF423	c.581C>T	NM_001271620.2	NP_001258549.1:p.(Ser194Leu)	NC_000016.9:g.49672302G>A	(Likely) benign	1 lab	169cbbc212
8:144911449 PUF60 C>G	8	144911449	144911449	C	G	PUF60	c.24+1G>C	NM_078480.2	NP_510965.1:p.?	NC_000008.10:g.144911449C>G	(Likely) pathogenic	1 lab	169d4be8a9
17:26732301 MISSING C>T	17	26732301	26732301	C	T	MISSING				NC_000017.10:g.26732301C>T	(Likely) benign	1 lab	169ed9c85c
3:30713802 TGFBR2 T>C	3	30713802	30713802	T	C	TGFBR2	c.1202T>C	NM_001024847.2	NP_001020018.1:p.(Val401Ala)	NC_000003.11:g.30713802T>C	(Likely) benign	1 lab	169ef4b240
17:39017974 KRT12 T>C	17	39017974	39017974	T	C	KRT12	c.1424A>G	NM_000223.4	NP_000214.1:p.(Gln475Arg)	NC_000017.10:g.39017974T>C	(Likely) benign	1 lab	16a10005e3
1:11322565 MTOR C>G	1	11322565	11322565	C	G	MTOR	c.-78G>C	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11322565C>G	(Likely) benign	1 lab	39e0ff0065
22:18291643 MICAL3 C>T	22	18291643	18291643	C	T	MICAL3	c.5617G>A	NM_015241.3	NP_056056.2:p.(Val1873Met)	NC_000022.10:g.18291643C>T	VUS	1 lab	16a27b7ed7
11:56432086 OR5AR1 T>A	11	56432086	56432086	T	A	OR5AR1	c.925T>A	NM_001004730.1	NP_001004730.1:p.(Ser309Thr)	NC_000011.9:g.56432086T>A	(Likely) benign	1 lab	16a2c46444
16:2164652 PKD1 C>T	16	2164652	2164652	C	T	PKD1	c.2372G>A	NM_001009944.2	NP_001009944.2:p.(Arg791Gln)	NC_000016.9:g.2164652C>T	(Likely) benign	1 lab	16a4c39042
10:73439205 CDH23 C>T	10	73439205	73439205	C	T	CDH23	c.1814C>T	NM_022124.5	NP_071407.4:p.(Ala605Val)	NC_000010.10:g.73439205C>T	VUS	1 lab	16a58ee469
X:57936071 ZXDA G>A	X	57936071	57936071	G	A	ZXDA	c.784C>T	NM_007156.4	NP_009087.1:p.(Pro262Ser)	NC_000023.10:g.57936071G>A	(Likely) benign	1 lab	16a60b5697
3:138067172 MRAS G>A	3	138067172	138067172	G	A	MRAS	c.-19+5G>A	NM_012219.4	NP_036351.3:p.?	NC_000003.11:g.138067172G>A	(Likely) benign	1 lab	16a6421079
6:152762273 SYNE1 G>C	6	152762273	152762273	G	C	SYNE1	c.4141C>G	NM_182961.3	NP_892006.3:p.(Gln1381Glu)	NC_000006.11:g.152762273G>C	VUS	1 lab	16a6ab95ca
15:41689091 NDUFAF1 T>G	15	41689091	41689091	T	G	NDUFAF1	c.167A>C	NM_016013.3	NP_057097.2:p.(Glu56Ala)	NC_000015.9:g.41689091T>G	(Likely) benign	1 lab	16a7654ccb
12:9002833 A2ML1 T>C	12	9002833	9002833	T	C	A2ML1	c.2197T>C	NM_144670.5	NP_653271.2:p.(Phe733Leu)	NC_000012.11:g.9002833T>C	VUS	1 lab	16a78b79cb
7:100635015 MUC12 G>A	7	100635015	100635015	G	A	MUC12	c.1171G>A	NM_001164462.1	NP_001157934.1:p.(Gly391Ser)	NC_000007.13:g.100635015G>A	(Likely) benign	1 lab	16a9b03cab
10:56138617 PCDH15 C>T	10	56138617	56138617	C	T	PCDH15				NC_000010.10:g.56138617C>T	(Likely) benign	1 lab	39eec8ffca
4:103645094 MANBA C>T	4	103645094	103645094	C	T	MANBA	c.303G>A	NM_005908.3	NP_005899.3:p.(Glu101=)	NC_000004.11:g.103645094C>T	(Likely) benign	1 lab	16ab3fb602
10:97096782 SORBS1 G>T	10	97096782	97096782	G	T	SORBS1	c.2997C>A	NM_001290294.1	NP_001277223.1:p.(Thr999=)	NC_000010.10:g.97096782G>T	(Likely) benign	1 lab	16ab47074e
5:176618875 NSD1 C>T	5	176618875	176618875	C	T	NSD1	c.928-10C>T	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176618875C>T	(Likely) benign	1 lab	e3a4098303
2:191898350 STAT4 T>C	2	191898350	191898350	T	C	STAT4	c.1718A>G	NM_003151.3	NP_003142.1:p.(Tyr573Cys)	NC_000002.11:g.191898350T>C	(Likely) benign	1 lab	16acc579ca
19:8982193 MUC16 G>T	19	8982193	8982193	G	T	MUC16	c.42082C>A	NM_024690.2	NP_078966.2:p.(Pro14028Thr)	NC_000019.9:g.8982193G>T	VUS	1 lab	16af7bc599
12:52214890 FIGNL2 C>T	12	52214890	52214890	C	T	FIGNL2	c.1308G>A	NM_001013690.4	NP_001013712.4:p.(Ala436=)	NC_000012.11:g.52214890C>T	(Likely) benign	1 lab	16b1788ff7
1:55075552 FAM151A G>GC	1	55075552	55075553	G	GC	FAM151A	c.1146dup	NM_176782.3	NP_788954.2:p.(Pro383AlafsTer87)	NC_000001.10:g.55075553dup	(Likely) benign	1 lab	16b2449448
3:46747315 TMIE G>A	3	46747315	46747315	G	A	TMIE	c.129G>A	NM_147196.2	NP_671729.2:p.(Pro43=)	NC_000003.11:g.46747315G>A	(Likely) benign	1 lab	16b2e64861
7:150707755 NOS3 C>G	7	150707755	150707755	C	G	NOS3	c.2756C>G	NM_000603.5	NP_000594.2:p.(Pro919Arg)	NC_000007.13:g.150707755C>G	VUS	1 lab	e3a9afa2aa
13:103718520 SLC10A2 T>C	13	103718520	103718520	T	C	SLC10A2	c.80A>G	NM_000452.2	NP_000443.1:p.(Asn27Ser)	NC_000013.10:g.103718520T>C	VUS	1 lab	16b399df83
9:108377615 FKTN A>G	9	108377615	108377615	A	G	FKTN	c.837A>G	NM_006731.2	NP_006722.2:p.(Glu279=)	NC_000009.11:g.108377615A>G	(Likely) benign	1 lab	16b3f4bf87
2:189868535 COL3A1 T>A	2	189868535	189868535	T	A	COL3A1	c.2661+22T>A	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189868535T>A	(Likely) benign	1 lab	16b498376e
4:184633795 TRAPPC11 T>C	4	184633795	184633795	T	C	TRAPPC11	c.3400T>C	NM_021942.5	NP_068761.4:p.(Ter1134ArgextTer23)	NC_000004.11:g.184633795T>C	VUS	1 lab	16b5650b73
7:151917764 KMT2C G>A	7	151917764	151917764	G	A	KMT2C	c.3556C>T	NM_170606.2	NP_733751.2:p.(Gln1186Ter)	NC_000007.13:g.151917764G>A	(Likely) pathogenic	1 lab	16b59628a8
3:10377865 ATP2B2 C>T	3	10377865	10377865	C	T	ATP2B2	c.3405G>A	NM_001330611.2	NP_001317540.1:p.(Ser1135=)	NC_000003.11:g.10377865C>T	(Likely) benign	1 lab	16b80ae202
11:17582310 OTOG T>G	11	17582310	17582310	T	G	OTOG	c.1433T>G	NM_001277269.1	NP_001264198.1:p.(Phe478Cys)	NC_000011.9:g.17582310T>G	VUS	1 lab	16bb51e06b
1:237753981 RYR2 A>G	1	237753981	237753981	A	G	RYR2	c.3849A>G	NM_001035.2	NP_001026.2:p.(Leu1283=)	NC_000001.10:g.237753981A>G	(Likely) benign	1 lab	16bc8b97cc
3:128211741 GATA2 C>T	3	128211741	128211741	C	T	GATA2	c.-46+1G>A	NM_032638.4	NP_116027.2:p.?	NC_000003.11:g.128211741C>T	VUS	1 lab	16bcfad924
17:43517529 PLEKHM1 C>A	17	43517529	43517529	C	A	PLEKHM1	c.2901G>T	NM_014798.2	NP_055613.1:p.(Gln967His)	NC_000017.10:g.43517529C>A	VUS	1 lab	16c088ffdf
17:2573569 PAFAH1B1 A>C	17	2573569	2573569	A	C	PAFAH1B1	c.512A>C	NM_000430.3	NP_000421.1:p.(Asp171Ala)	NC_000017.10:g.2573569A>C	(Likely) pathogenic	1 lab	16c0ff9cde
5:127595510 FBN2 G>C	5	127595510	127595510	G	C	FBN2	c.8376C>G	NM_001999.3	NP_001990.2:p.(Ile2792Met)	NC_000005.9:g.127595510G>C	(Likely) benign	1 lab	16c1019382
19:13136105 NFIX C>T	19	13136105	13136105	C	T	NFIX	c.322C>T	NM_001271043.2	NP_001257972.1:p.(Pro108Ser)	NC_000019.9:g.13136105C>T	(Likely) benign	1 lab	16c21aae2c
6:64430690 EYS T>C	6	64430690	64430690	T	C	EYS	c.9300A>G	NM_001292009.1	NP_001278938.1:p.(Leu3100=)	NC_000006.11:g.64430690T>C	(Likely) benign	1 lab	16c3cda7f0
1:177906464 CRYZL2P-SEC16B C>T	1	177906464	177906464	C	T	CRYZL2P-SEC16B	c.2388G>A	NM_001356505.1	NP_001343434.1:p.(Arg796=)	NC_000001.10:g.177906464C>T	(Likely) benign	1 lab	16c4714aae
5:172660121 NKX2-5 G>C	5	172660121	172660121	G	C	NKX2-5	c.426C>G	NM_004387.3	NP_004378.1:p.(Arg142=)	NC_000005.9:g.172660121G>C	(Likely) benign	1 lab	16c74f066d
14:23900879 MYH7 A>G	14	23900879	23900879	A	G	MYH7	c.647T>C	NM_000257.2	NP_000248.2:p.(Leu216Pro)	NC_000014.8:g.23900879A>G	VUS	1 lab	16c76937dd
X:152722041 HAUS7 G>T	X	152722041	152722041	G	T	HAUS7	c.545C>A	NM_017518.7	NP_059988.3:p.(Pro182His)	NC_000023.10:g.152722041G>T	VUS	1 lab	16c8037c82
11:102991207 DYNC2H1 T>A	11	102991207	102991207	T	A	DYNC2H1	c.1031T>A	NM_001080463.1	NP_001073932.1:p.(Phe344Tyr)	NC_000011.9:g.102991207T>A	(Likely) benign	1 lab	16c805d201
1:39833952 MACF1 G>T	1	39833952	39833952	G	T	MACF1	c.6718G>T	NM_012090.5	NP_036222.3:p.(Asp2240Tyr)	NC_000001.10:g.39833952G>T	VUS	1 lab	16c886e148
3:18391132 SATB1 C>CCTG	3	18391132	18391153	C	CCTG	SATB1	c.1915_1917dup	NM_001195470.3	NP_001182399.1:p.(Gln639dup)	NC_000003.11:g.18391151_18391153dup	(Likely) benign	1 lab	e3ad25d7bf
20:25319967 ABHD12 C>T	20	25319967	25319967	C	T	ABHD12	c.212G>A	NM_001042472.3	NP_001035937.1:p.(Arg71His)	NC_000020.10:g.25319967C>T	VUS	1 lab	16c96f495a
9:130981392 DNM1 C>G	9	130981392	130981392	C	G	DNM1	c.450C>G	NM_001288738.1	NP_001275667.1:p.(Pro150=)	NC_000009.11:g.130981392C>G	(Likely) benign	1 lab	16c9b80a08
X:48759693 PQBP1 G>A	X	48759693	48759693	G	A	PQBP1	c.476G>A	NM_005710.2	NP_005701.1:p.(Arg159Gln)	NC_000023.10:g.48759693G>A	VUS	1 lab	16ca40933e
8:42693248 THAP1 G>A	8	42693248	42693248	G	A	THAP1	c.499C>T	NM_018105.3	NP_060575.1:p.(Gln167Ter)	NC_000008.10:g.42693248G>A	(Likely) pathogenic	1 lab	e3b2696257
22:32108833 PRR14L TGAAAATCCGTCCAG>T	22	32108833	32108849	TGAAAATCCGTCCAG	T	PRR14L	c.4978_4991del	NM_173566.3	NP_775837.2:p.(Leu1660IlefsTer13)	NC_000022.10:g.32108836_32108849del	VUS	1 lab	16cdebbb5d
7:83591049 SEMA3A C>T	7	83591049	83591049	C	T	SEMA3A	c.1954G>A	NM_006080.2	NP_006071.1:p.(Val652Met)	NC_000007.13:g.83591049C>T	VUS	1 lab	16ce48a049
14:77744827 POMT2 C>T	14	77744827	77744827	C	T	POMT2	c.2057G>A	NM_013382.5	NP_037514.2:p.(Arg686Gln)	NC_000014.8:g.77744827C>T	(Likely) benign	1 lab	16cfc8f7cb
1:6501033 ESPN G>A	1	6501033	6501033	G	A	ESPN	c.898G>A	NM_031475.3	NP_113663.2:p.(Val300Ile)	NC_000001.10:g.6501033G>A	(Likely) benign	1 lab	16d1329de8
X:49056641 SYP A>T	X	49056641	49056641	A	T	SYP	c.5T>A	NM_003179.2	NP_003170.1:p.(Leu2Gln)	NC_000023.10:g.49056641A>T	VUS	1 lab	16d382fa83
X:47485574 CFP A>G	X	47485574	47485574	A	G	CFP	c.1133-6T>C	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47485574A>G	(Likely) benign	1 lab	16d484b8b4
X:148568562 IDS G>C	X	148568562	148568562	G	C	IDS	c.1074C>G	NM_000202.7	NP_000193.1:p.(Pro358=)	NC_000023.10:g.148568562G>C	(Likely) benign	1 lab	16d5dc9f98
X:108924553 ACSL4 T>C	X	108924553	108924553	T	C	ACSL4	c.581A>G	NM_022977.2	NP_075266.1:p.(Asn194Ser)	NC_000023.10:g.108924553T>C	(Likely) benign	1 lab	16d5fd5033
X:105450164 PWWP3B A>G	X	105450164	105450164	A	G	PWWP3B	c.739A>G	NM_152423.4	NP_689636.3:p.(Met247Val)	NC_000023.10:g.105450164A>G	(Likely) benign	1 lab	16d67a146b
4:186423498 PDLIM3 T>G	4	186423498	186423498	T	G	PDLIM3	c.1045A>C	NM_014476.5	NP_055291.2:p.(Thr349Pro)	NC_000004.11:g.186423498T>G	VUS	1 lab	16d68809e0
2:238434378 MLPH C>T	2	238434378	238434378	C	T	MLPH	c.810C>T	NM_024101.5	NP_077006.1:p.(His270=)	NC_000002.11:g.238434378C>T	(Likely) benign	1 lab	16da4a1c6f
3:49940246 MST1R G>A	3	49940246	49940246	G	A	MST1R	c.797C>T	NM_002447.3	NP_002438.2:p.(Pro266Leu)	NC_000003.11:g.49940246G>A	(Likely) benign	1 lab	16db582a9d
16:84209815 DNAAF1 C>G	16	84209815	84209815	C	G	DNAAF1	c.1975C>G	NM_178452.5	NP_848547.4:p.(Leu659Val)	NC_000016.9:g.84209815C>G	(Likely) benign	1 lab	16de1288e5
8:38187158 NSD3 G>A	8	38187158	38187158	G	A	NSD3	c.1319C>T	NM_023034.1	NP_075447.1:p.(Ser440Phe)	NC_000008.10:g.38187158G>A	VUS	1 lab	16def45df8
6:39893483 MOCS1 G>A	6	39893483	39893483	G	A	MOCS1	c.357C>T	NM_005943.5	NP_005934.2:p.(Ile119=)	NC_000006.11:g.39893483G>A	(Likely) benign	1 lab	16df6195d7
11:1260765 MUC5B G>A	11	1260765	1260765	G	A	MUC5B	c.3552G>A	NM_002458.2	NP_002449.2:p.(Gly1184=)	NC_000011.9:g.1260765G>A	(Likely) benign	1 lab	16df66afcd
7:116409692 MET C>CTTTTTT	7	116409692	116409696	C	CTTTTTT	MET	c.2638-4_2638-3insTTTTTT	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116409695_116409696insTTTTTT	(Likely) benign	1 lab	16e09e69f3
12:10875609 YBX3 G>T	12	10875609	10875609	G	T	YBX3	c.102C>A	NM_003651.5	NP_003642.3:p.(Ser34Arg)	NC_000012.11:g.10875609G>T	(Likely) benign	1 lab	16e1196989
1:1463148 ATAD3A G>A	1	1463148	1463148	G	A	ATAD3A	c.1555G>A	NM_018188.4	NP_060658.3:p.(Val519Ile)	NC_000001.10:g.1463148G>A	VUS	1 lab	16e1e894b5
8:2910093 CSMD1 C>G	8	2910093	2910093	C	G	CSMD1	c.7551G>C	NM_033225.6	NP_150094.5:p.(Val2517=)	NC_000008.10:g.2910093C>G	(Likely) benign	1 lab	16e27a3964
16:23428412 COG7 C>T	16	23428412	23428412	C	T	COG7	c.1168G>A	NM_153603.3	NP_705831.1:p.(Glu390Lys)	NC_000016.9:g.23428412C>T	VUS	1 lab	16e42ea788
X:153925413 GAB3 A>G	X	153925413	153925413	A	G	GAB3	c.1421T>C	NM_001081573.2	NP_001075042.1:p.(Val474Ala)	NC_000023.10:g.153925413A>G	(Likely) benign	1 lab	16e5727933
2:31562482 XDH G>T	2	31562482	31562482	G	T	XDH	c.3647C>A	NM_000379.3	NP_000370.2:p.(Pro1216His)	NC_000002.11:g.31562482G>T	VUS	1 lab	16e66a1a7b
X:153416216 OPN1LW C>T	X	153416216	153416216	C	T	OPN1LW	c.201C>T	NM_020061.5	NP_064445.2:p.(Ser67=)	NC_000023.10:g.153416216C>T	(Likely) benign	1 lab	16e7082a4a
11:117244544 CEP164 C>T	11	117244544	117244544	C	T	CEP164	c.1230C>T	NM_014956.4	NP_055771.4:p.(Gly410=)	NC_000011.9:g.117244544C>T	(Likely) benign	1 lab	16e7e55854
11:46419259 AMBRA1 C>T	11	46419259	46419259	C	T	AMBRA1	c.3647G>A	NM_001267782.1	NP_001254711.1:p.(Gly1216Glu)	NC_000011.9:g.46419259C>T	VUS	1 lab	16e7e96e8e
16:2108758 TSC2 G>T	16	2108758	2108758	G	T	TSC2	c.859G>T	NM_000548.3	NP_000539.2:p.(Glu287Ter)	NC_000016.9:g.2108758G>T	(Likely) pathogenic	1 lab	16e95b4fac
10:33545355 NRP1 G>C	10	33545355	33545355	G	C	NRP1	c.703C>G	NM_003873.7	NP_003864.5:p.(Arg235Gly)	NC_000010.10:g.33545355G>C	VUS	1 lab	e3b8d208ea
17:6381945 PITPNM3 G>A	17	6381945	6381945	G	A	PITPNM3	c.699C>T	NM_031220.3	NP_112497.2:p.(Val233=)	NC_000017.10:g.6381945G>A	(Likely) benign	1 lab	16eb169924
17:45008558 GOSR2 G>T	17	45008558	45008558	G	T	GOSR2	c.188G>T	NM_004287.4	NP_004278.2:p.(Arg63Met)	NC_000017.10:g.45008558G>T	VUS	1 lab	16eb94fed9
3:133664022 SLCO2A1 C>T	3	133664022	133664022	C	T	SLCO2A1	c.1378G>A	NM_005630.2	NP_005621.2:p.(Gly460Arg)	NC_000003.11:g.133664022C>T	VUS	1 lab	16ec4898bd
3:124437870 KALRN C>T	3	124437870	124437870	C	T	KALRN	c.8514C>T	NM_001024660.4	NP_001019831.2:p.(His2838=)	NC_000003.11:g.124437870C>T	(Likely) benign	1 lab	16ef217195
15:90172197 KIF7 G>A	15	90172197	90172197	G	A	KIF7	c.3664+10C>T	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90172197G>A	(Likely) benign	1 lab	16efb14333
22:23915761 IGLL1 C>T	22	23915761	23915761	C	T	IGLL1				NC_000022.10:g.23915761C>T	(Likely) benign	1 lab	b543b94e5e
5:149263091 PDE6A G>C	5	149263091	149263091	G	C	PDE6A	c.2036C>G	NM_000440.2	NP_000431.2:p.(Thr679Arg)	NC_000005.9:g.149263091G>C	VUS	1 lab	16eff853c2
5:13871737 DNAH5 G>A	5	13871737	13871737	G	A	DNAH5	c.3534C>T	NM_001369.2	NP_001360.1:p.(Asn1178=)	NC_000005.9:g.13871737G>A	(Likely) benign	1 lab	16f00e5f65
16:84043396 SLC38A8 A>G	16	84043396	84043396	A	G	SLC38A8	c.1301T>C	NM_001080442.2	NP_001073911.1:p.(Met434Thr)	NC_000016.9:g.84043396A>G	(Likely) benign	1 lab	16f1d80af2
X:62863865 ARHGEF9 T>G	X	62863865	62863865	T	G	ARHGEF9	c.1364A>C	NM_015185.2	NP_056000.1:p.(Gln455Pro)	NC_000023.10:g.62863865T>G	VUS	1 lab	16f37df292
4:5564709 EVC2 G>A	4	5564709	5564709	G	A	EVC2	c.3553C>T	NM_001166136.1	NP_001159608.1:p.(Leu1185=)	NC_000004.11:g.5564709G>A	(Likely) benign	1 lab	16f38a1bde
10:104592810 CYP17A1 G>A	10	104592810	104592810	G	A	CYP17A1	c.909C>T	NM_000102.3	NP_000093.1:p.(Gly303=)	NC_000010.10:g.104592810G>A	VUS	1 lab	16f5209b13
4:114277232 ANK2 C>G	4	114277232	114277232	C	G	ANK2	c.7458C>G	NM_001148.4	NP_001139.3:p.(His2486Gln)	NC_000004.11:g.114277232C>G	(Likely) benign	1 lab	16f5f80553
16:57688014 ADGRG1 TCCAGGAC>T	16	57688014	57688022	TCCAGGAC	T	ADGRG1	c.739_745del	NM_201525.4	NP_958933.1:p.(Gln247CysfsTer74)	NC_000016.9:g.57688016_57688022del	(Likely) pathogenic	1 lab	16f70eff6c
4:36318049 DTHD1 G>C	4	36318049	36318049	G	C	DTHD1	c.1906G>C	NM_001170700.2	NP_001164171.1:p.(Val636Leu)	NC_000004.11:g.36318049G>C	(Likely) benign	1 lab	16f7be52b2
X:30326984 NR0B1 C>A	X	30326984	30326984	C	A	NR0B1	c.497G>T	NM_000475.4	NP_000466.2:p.(Arg166Leu)	NC_000023.10:g.30326984C>A	(Likely) benign	1 lab	16fa1af962
X:25025312 ARX G>T	X	25025312	25025312	G	T	ARX	c.1364C>A	NM_139058.2	NP_620689.1:p.(Pro455His)	NC_000023.10:g.25025312G>T	VUS	1 lab	17046f4fb8
1:186863287 PLA2G4A A>T	1	186863287	186863287	A	T	PLA2G4A	c.322A>T	NM_024420.2	NP_077734.1:p.(Thr108Ser)	NC_000001.10:g.186863287A>T	(Likely) benign	1 lab	16fad24472
5:90072361 ADGRV1 C>A	5	90072361	90072361	C	A	ADGRV1	c.12495C>A	NM_032119.4	NP_115495.3:p.(Pro4165=)	NC_000005.9:g.90072361C>A	(Likely) benign	1 lab	16fc9a234f
2:179600675 TTN G>A	2	179600675	179600675	G	A	TTN	c.14498C>T	NM_001267550.2	NP_001254479.2:p.(Ala4833Val)	NC_000002.11:g.179600675G>A	VUS	1 lab	e3ba137f03
2:15555664 NBAS A>C	2	15555664	15555664	A	C	NBAS	c.2937+6T>G	NM_015909.3	NP_056993.2:p.?	NC_000002.11:g.15555664A>C	(Likely) benign	1 lab	16fe2f1454
22:18609190 TUBA8 T>C	22	18609190	18609190	T	C	TUBA8	c.445T>C	NM_018943.2	NP_061816.1:p.(Phe149Leu)	NC_000022.10:g.18609190T>C	VUS	1 lab	17000262d6
7:100482121 SRRT A>G	7	100482121	100482121	A	G	SRRT	c.890A>G	NM_001128852.1	NP_001122324.1:p.(Asp297Gly)	NC_000007.13:g.100482121A>G	VUS	1 lab	1700903bdd
17:78022404 CCDC40 T>C	17	78022404	78022404	T	C	CCDC40	c.699T>C	NM_017950.3	NP_060420.2:p.(Asp233=)	NC_000017.10:g.78022404T>C	(Likely) benign	1 lab	170097b3e7
X:34148417 FAM47A A>C	X	34148417	34148417	A	C	FAM47A	c.1979T>G	NM_203408.3	NP_981953.2:p.(Leu660Arg)	NC_000023.10:g.34148417A>C	VUS	1 lab	17010c1965
1:115238141 AMPD1 G>A	1	115238141	115238141	G	A	AMPD1	c.51C>T	NM_000036.2	NP_000027.2:p.(Leu17=)	NC_000001.10:g.115238141G>A	(Likely) benign	1 lab	1702669c3a
11:102665930 MMP1 C>A	11	102665930	102665930	C	A	MMP1	c.874G>T	NM_002421.3	NP_002412.1:p.(Gly292Ter)	NC_000011.9:g.102665930C>A	VUS	1 lab	1702840737
X:77268444 ATP7A C>T	X	77268444	77268444	C	T	ATP7A	c.2241C>T	NM_000052.6	NP_000043.4:p.(Asp747=)	NC_000023.10:g.77268444C>T	(Likely) benign	1 lab	170373a681
20:35491673 MTCL2 C>T	20	35491673	35491673	C	T	MTCL2	c.75G>A	NM_080627.4	NP_542194.2:p.(Pro25=)	NC_000020.10:g.35491673C>T	(Likely) benign	1 lab	170921f04e
15:43045234 TTBK2 A>G	15	43045234	43045234	A	G	TTBK2	c.2210T>C	NM_173500.3	NP_775771.3:p.(Ile737Thr)	NC_000015.9:g.43045234A>G	(Likely) benign	1 lab	170b46eb56
20:43254285 ADA G>C	20	43254285	43254285	G	C	ADA	c.403C>G	NM_000022.2	NP_000013.2:p.(Gln135Glu)	NC_000020.10:g.43254285G>C	(Likely) benign	1 lab	170e9773c3
2:179579244 TTN C>T	2	179579244	179579244	C	T	TTN	c.26257G>A	NM_001267550.1	NP_001254479.1:p.(Val8753Ile)	NC_000002.11:g.179579244C>T	(Likely) benign	1 lab	1712a252e0
17:48268829 COL1A1 G>A	17	48268829	48268829	G	A	COL1A1	c.2150C>T	NM_000088.3	NP_000079.2:p.(Ala717Val)	NC_000017.10:g.48268829G>A	VUS	1 lab	17132108e8
4:119644791 SEC24D C>T	4	119644791	119644791	C	T	SEC24D	c.2981G>A	NM_001318066.1	NP_001304995.1:p.(Arg994Gln)	NC_000004.11:g.119644791C>T	(Likely) benign	1 lab	171bc62077
7:100417281 EPHB4 C>T	7	100417281	100417281	C	T	EPHB4	c.1195G>A	NM_004444.5	NP_004435.3:p.(Asp399Asn)	NC_000007.13:g.100417281C>T	VUS	1 lab	e3bd6db328
11:17575060 OTOG C>T	11	17575060	17575060	C	T	OTOG	c.570C>T	NM_001277269.1	NP_001264198.1:p.(Ser190=)	NC_000011.9:g.17575060C>T	(Likely) benign	1 lab	17138d80be
11:89028417 TYR G>A	11	89028417	89028417	G	A	TYR	c.1473G>A	NM_000372.4	NP_000363.1:p.(Leu491=)	NC_000011.9:g.89028417G>A	(Likely) benign	1 lab	1716623ace
X:153421944 OPN1LW C>T	X	153421944	153421944	C	T	OPN1LW	c.920C>T	NM_020061.5	NP_064445.2:p.(Pro307Leu)	NC_000023.10:g.153421944C>T	VUS	1 lab	171924838d
3:143100940 SLC9A9 C>T	3	143100940	143100940	C	T	SLC9A9	c.1486G>A	NM_173653.3	NP_775924.1:p.(Asp496Asn)	NC_000003.11:g.143100940C>T	VUS	1 lab	17194f0c12
2:129026165 HS6ST1 G>A	2	129026165	129026165	G	A	HS6ST1	c.807C>T	NM_004807.2	NP_004798.3:p.(Pro269=)	NC_000002.11:g.129026165G>A	(Likely) benign	1 lab	1719985da4
2:46588117 EPAS1 A>C	2	46588117	46588117	A	C	EPAS1	c.667A>C	NM_001430.4	NP_001421.2:p.(Ile223Leu)	NC_000002.11:g.46588117A>C	(Likely) benign	1 lab	1719c58edb
11:6587815 DNHD1 A>G	11	6587815	6587815	A	G	DNHD1	c.11207-2A>G	NM_144666.2	NP_653267.2:p.?	NC_000011.9:g.6587815A>G	VUS	1 lab	39f5e914dc
5:121413383 LOX C>A	5	121413383	121413383	C	A	LOX	c.298G>T	NM_002317.6	NP_002308.2:p.(Ala100Ser)	NC_000005.9:g.121413383C>A	(Likely) benign	1 lab	171a92056d
9:133954520 LAMC3 C>T	9	133954520	133954520	C	T	LAMC3	c.3778-16C>T	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133954520C>T	(Likely) benign	1 lab	171ae8a244
17:8077550 TMEM107 C>G	17	8077550	8077550	C	G	TMEM107	c.412G>C	NM_032354.4	NP_115730.2:p.(Val138Leu)	NC_000017.10:g.8077550C>G	VUS	1 lab	171bdd6507
5:90024590 ADGRV1 C>G	5	90024590	90024590	C	G	ADGRV1	c.10266C>G	NM_032119.4	NP_115495.3:p.(Ala3422=)	NC_000005.9:g.90024590C>G	(Likely) benign	1 lab	171db06a0e
9:135782198 TSC1 GA>G	9	135782198	135782200	GA	G	TSC1	c.1357del	NM_000368.5	NP_000359.1:p.(Ser453LeufsTer4)	NC_000009.11:g.135782200del	(Likely) pathogenic	1 lab	171e11c1da
15:89864087 POLG C>T	15	89864087	89864087	C	T	POLG	c.2891G>A	NM_002693.2	NP_002684.1:p.(Arg964His)	NC_000015.9:g.89864087C>T	VUS	1 lab	171ec7c122
3:48508053 SHISA5 C>T	3	48508053	48508053	C	T	SHISA5				NC_000003.11:g.48508053C>T	(Likely) benign	1 lab	171f26d682
19:53208399 ZNF611 G>A	19	53208399	53208399	G	A	ZNF611	c.1909C>T	NM_030972.3	NP_112234.3:p.(Leu637Phe)	NC_000019.9:g.53208399G>A	VUS	1 lab	1720fe7615
5:37157862 CPLANE1 C>T	5	37157862	37157862	C	T	CPLANE1	c.7867G>A	NM_023073.3	NP_075561.3:p.(Asp2623Asn)	NC_000005.9:g.37157862C>T	(Likely) benign	1 lab	1721603dae
X:47774903 ZNF81 G>T	X	47774903	47774903	G	T	ZNF81	c.858G>T	NM_007137.3	NP_009068.2:p.(Arg286Ser)	NC_000023.10:g.47774903G>T	VUS	1 lab	1721f53316
17:2577592 PAFAH1B1 A>G	17	2577592	2577592	A	G	PAFAH1B1	c.900+10A>G	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2577592A>G	(Likely) benign	1 lab	1722ee8b71
5:13830300 DNAH5 C>T	5	13830300	13830300	C	T	DNAH5	c.6084G>A	NM_001369.2	NP_001360.1:p.(Trp2028Ter)	NC_000005.9:g.13830300C>T	(Likely) pathogenic	1 lab	1723052e9e
2:27445451 CAD A>G	2	27445451	27445451	A	G	CAD	c.560A>G	NM_004341.4	NP_004332.2:p.(Tyr187Cys)	NC_000002.11:g.27445451A>G	VUS	1 lab	1724956000
X:48341011 FTSJ1 C>T	X	48341011	48341011	C	T	FTSJ1	c.780C>T	NM_177439.2	NP_803188.1:p.(Tyr260=)	NC_000023.10:g.48341011C>T	(Likely) benign	1 lab	1724c4c735
16:88772985 CTU2 C>A	16	88772985	88772985	C	A	CTU2	c.47C>A	NM_001012759.3	NP_001012777.1:p.(Pro16Gln)	NC_000016.9:g.88772985C>A	(Likely) benign	1 lab	1724f3c131
X:77264758 ATP7A G>A	X	77264758	77264758	G	A	ATP7A	c.1867G>A	NM_000052.6	NP_000043.4:p.(Glu623Lys)	NC_000023.10:g.77264758G>A	(Likely) benign	1 lab	17262e41b4
7:128489420 FLNC G>A	7	128489420	128489420	G	A	FLNC	c.4987G>A	NM_001458.5	NP_001449.3:p.(Glu1663Lys)	NC_000007.13:g.128489420G>A	VUS	1 lab	e3be2f4778
22:32875122 FBXO7 T>G	22	32875122	32875122	T	G	FBXO7	c.277T>G	NM_012179.3	NP_036311.3:p.(Ser93Ala)	NC_000022.10:g.32875122T>G	(Likely) benign	1 lab	17282a9f34
9:139391820 NOTCH1 A>G	9	139391820	139391820	A	G	NOTCH1	c.6371T>C	NM_017617.5	NP_060087.3:p.(Leu2124Pro)	NC_000009.11:g.139391820A>G	VUS	1 lab	e3c1ee1df0
1:151317195 RFX5 T>C	1	151317195	151317195	T	C	RFX5	c.353+9A>G	NM_000449.3	NP_000440.1:p.?	NC_000001.10:g.151317195T>C	(Likely) benign	1 lab	1729925ec2
16:716085 WDR90 C>G	16	716085	716085	C	G	WDR90	c.4570C>G	NM_145294.5	NP_660337.3:p.(His1524Asp)	NC_000016.9:g.716085C>G	VUS	1 lab	172a8e090e
X:138711880 MCF2 G>A	X	138711880	138711880	G	A	MCF2	c.592C>T	NM_001171876.1	NP_001165347.1:p.(Arg198Cys)	NC_000023.10:g.138711880G>A	VUS	1 lab	172af4ed74
15:51868380 DMXL2 TAA>T	15	51868380	51868400	TAA	T	DMXL2	c.88-4_88-3del	NM_001378457.1	NP_001365386.1:p.?	NC_000015.9:g.51868399_51868400del	(Likely) benign	1 lab	172b1ab32a
X:9677344 TBL1X G>T	X	9677344	9677344	G	T	TBL1X	c.1293G>T	NM_005647.3	NP_005638.1:p.(Ser431=)	NC_000023.10:g.9677344G>T	(Likely) benign	1 lab	172bc7d4d2
11:31814879 PAX6 GA>G	11	31814879	31814883	GA	G	PAX6	c.1074+106del	NM_001368894.2	NP_001355823.1:p.?	NC_000011.9:g.31814883del	VUS	1 lab	172bd40299
X:11139907 HCCS G>A	X	11139907	11139907	G	A	HCCS	c.784G>A	NM_005333.5	NP_005324.3:p.(Ala262Thr)	NC_000023.10:g.11139907G>A	VUS	1 lab	1734afda0b
2:179633587 TTN C>T	2	179633587	179633587	C	T	TTN	c.8976G>A	NM_001267550.1	NP_001254479.1:p.(Val2992=)	NC_000002.11:g.179633587C>T	(Likely) benign	1 lab	172c2a3c07
7:82545244 PCLO T>C	7	82545244	82545244	T	C	PCLO	c.12058A>G	NM_033026.6	NP_149015.2:p.(Ser4020Gly)	NC_000007.13:g.82545244T>C	(Likely) benign	1 lab	e3cada5083
3:123418877 MYLK G>A	3	123418877	123418877	G	A	MYLK	c.3438C>T	NM_053025.3	NP_444253.3:p.(Leu1146=)	NC_000003.11:g.123418877G>A	(Likely) benign	1 lab	172d056c62
9:140093585 TPRN G>A	9	140093585	140093585	G	A	TPRN	c.1579C>T	NM_001128228.3	NP_001121700.2:p.(Arg527Trp)	NC_000009.11:g.140093585G>A	VUS	1 lab	172e84c0f0
12:49435206 KMT2D G>T	12	49435206	49435206	G	T	KMT2D	c.6347C>A	NM_003482.3	NP_003473.3:p.(Pro2116Gln)	NC_000012.11:g.49435206G>T	VUS	1 lab	172eed3e13
8:11991106 USP17L7 C>T	8	11991106	11991106	C	T	USP17L7	c.413G>A	NM_001256869.1	NP_001243798.1:p.(Ser138Asn)	NC_000008.10:g.11991106C>T	(Likely) benign	1 lab	172f3f5bf8
1:53442436 SCP2 A>G	1	53442436	53442436	A	G	SCP2	c.669A>G	NM_002979.4	NP_002970.2:p.(Gln223=)	NC_000001.10:g.53442436A>G	(Likely) benign	1 lab	172fb7c7e5
12:7842990 GDF3 G>A	12	7842990	7842990	G	A	GDF3	c.579C>T	NM_020634.2	NP_065685.1:p.(Asn193=)	NC_000012.11:g.7842990G>A	(Likely) benign	1 lab	1730440f50
17:73282519 SLC25A19 G>A	17	73282519	73282519	G	A	SLC25A19	c.154C>T	NM_021734.4	NP_068380.3:p.(Arg52Cys)	NC_000017.10:g.73282519G>A	VUS	1 lab	17306f9e92
2:113146146 RGPD8 A>G	2	113146146	113146146	A	G	RGPD8	c.4376T>C	NM_001164463.1	NP_001157935.1:p.(Ile1459Thr)	NC_000002.11:g.113146146A>G	(Likely) benign	1 lab	1732c5c10a
X:77276567 ATP7A C>G	X	77276567	77276567	C	G	ATP7A	c.2907C>G	NM_000052.6	NP_000043.4:p.(Thr969=)	NC_000023.10:g.77276567C>G	(Likely) benign	1 lab	1733053bf3
13:113744026 MCF2L C>T	13	113744026	113744026	C	T	MCF2L	c.2931C>T	NM_001320815.1	NP_001307744.1:p.(Pro977=)	NC_000013.10:g.113744026C>T	(Likely) benign	1 lab	1733b05133
2:46583303 EPAS1 C>T	2	46583303	46583303	C	T	EPAS1	c.231C>T	NM_001430.4	NP_001421.2:p.(Asn77=)	NC_000002.11:g.46583303C>T	(Likely) benign	1 lab	1733fb60de
9:12698664 TYRP1 C>T	9	12698664	12698664	C	T	TYRP1	c.913+9C>T	NM_000550.2	NP_000541.1:p.?	NC_000009.11:g.12698664C>T	(Likely) benign	1 lab	1737f3d025
11:133790459 MISSING G>A	11	133790459	133790459	G	A	MISSING				NC_000011.9:g.133790459G>A	(Likely) benign	1 lab	173855430a
15:75704005 SIN3A G>A	15	75704005	75704005	G	A	SIN3A	c.836C>T	NM_001145358.1	NP_001138830.1:p.(Pro279Leu)	NC_000015.9:g.75704005G>A	VUS	1 lab	17386175d8
9:139324743 INPP5E C>T	9	139324743	139324743	C	T	INPP5E	c.1788G>A	NM_019892.5	NP_063945.2:p.(Arg596=)	NC_000009.11:g.139324743C>T	(Likely) benign	1 lab	1738d3c439
5:90106575 ADGRV1 G>A	5	90106575	90106575	G	A	ADGRV1	c.15498G>A	NM_032119.4	NP_115495.3:p.(Thr5166=)	NC_000005.9:g.90106575G>A	(Likely) benign	1 lab	173cfa010f
9:40706276 SPATA31A3 C>T	9	40706276	40706276	C	T	SPATA31A3	c.3933C>T	NM_001083124.1	NP_001076593.1:p.(Pro1311=)	NC_000009.11:g.40706276C>T	(Likely) benign	1 lab	173d5ac104
1:183177132 LAMC2 G>A	1	183177132	183177132	G	A	LAMC2	c.196G>A	NM_005562.2	NP_005553.2:p.(Glu66Lys)	NC_000001.10:g.183177132G>A	VUS	1 lab	173ef99356
1:44424162 IPO13 G>A	1	44424162	44424162	G	A	IPO13	c.1779G>A	NM_014652.4	NP_055467.3:p.(Ala593=)	NC_000001.10:g.44424162G>A	(Likely) benign	1 lab	173efa10e7
17:2966350 OR1D5 C>G	17	2966350	2966350	C	G	OR1D5	c.552G>C	NM_014566.1	NP_055381.1:p.(Leu184=)	NC_000017.10:g.2966350C>G	(Likely) benign	1 lab	1740bccda8
17:40330877 KCNH4 G>A	17	40330877	40330877	G	A	KCNH4	c.244C>T	NM_012285.3	NP_036417.1:p.(Arg82Cys)	NC_000017.10:g.40330877G>A	VUS	1 lab	1740ee3316
16:16259579 ABCC6 G>A	16	16259579	16259579	G	A	ABCC6	c.3207C>T	NM_001171.5	NP_001162.4:p.(Tyr1069=)	NC_000016.9:g.16259579G>A	(Likely) benign	1 lab	17421f63ca
X:19482393 MAP3K15 C>G	X	19482393	19482393	C	G	MAP3K15	c.657G>C	NM_001001671.3	NP_001001671.3:p.(Pro219=)	NC_000023.10:g.19482393C>G	(Likely) benign	1 lab	1744b17ec9
8:100123435 VPS13B C>T	8	100123435	100123435	C	T	VPS13B	c.690C>T	NM_017890.4	NP_060360.3:p.(Tyr230=)	NC_000008.10:g.100123435C>T	(Likely) benign	1 lab	1745c6dc85
3:4687341 ITPR1 G>A	3	4687341	4687341	G	A	ITPR1	c.784G>A	NM_001099952.2	NP_001093422.2:p.(Val262Ile)	NC_000003.11:g.4687341G>A	VUS	1 lab	1748a32ddc
17:78086728 GAA G>A	17	78086728	78086728	G	A	GAA	c.1942G>A	NM_000152.3	NP_000143.2:p.(Gly648Ser)	NC_000017.10:g.78086728G>A	(Likely) pathogenic	1 lab	1748c7ee34
12:50052325 FMNL3 G>A	12	50052325	50052325	G	A	FMNL3	c.505C>T	NM_175736.5	NP_783863.4:p.(Arg169Trp)	NC_000012.11:g.50052325G>A	VUS	1 lab	174a69fc38
7:156584077 LMBR1 T>C	7	156584077	156584077	T	C	LMBR1	c.423+5006A>G	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584077T>C	VUS	1 lab	174c36d54f
12:109547675 UNG G>T	12	109547675	109547675	G	T	UNG	c.816G>T	NM_003362.3	NP_003353.1:p.(Leu272Phe)	NC_000012.11:g.109547675G>T	(Likely) benign	1 lab	174ccf7d23
X:153421877 OPN1LW A>G	X	153421877	153421877	A	G	OPN1LW	c.853A>G	NM_020061.5	NP_064445.2:p.(Thr285Ala)	NC_000023.10:g.153421877A>G	(Likely) benign	1 lab	174de8d04a
1:216172305 USH2A T>C	1	216172305	216172305	T	C	USH2A	c.6581A>G	NM_206933.2	NP_996816.2:p.(Tyr2194Cys)	NC_000001.10:g.216172305T>C	VUS	1 lab	174e07b993
13:77575065 CLN5 C>T	13	77575065	77575065	C	T	CLN5	c.1185C>T	NM_006493.2	NP_006484.1:p.(Ile395=)	NC_000013.10:g.77575065C>T	(Likely) benign	1 lab	174f925d16
1:215777640 KCTD3 A>G	1	215777640	215777640	A	G	KCTD3	c.999A>G	NM_001319295.1	NP_001306224.1:p.(Val333=)	NC_000001.10:g.215777640A>G	(Likely) benign	1 lab	174f9ce2fb
11:118307250 KMT2A G>C	11	118307250	118307250	G	C	KMT2A	c.23G>C	NM_001197104.1	NP_001184033.1:p.(Arg8Pro)	NC_000011.9:g.118307250G>C	VUS	1 lab	175056d1c4
10:104850392 NT5C2 G>A	10	104850392	104850392	G	A	NT5C2	c.852C>T	NM_001351179.1	NP_001338108.1:p.(Tyr284=)	NC_000010.10:g.104850392G>A	(Likely) benign	1 lab	1753e8804b
21:46313397 ITGB2 G>T	21	46313397	46313397	G	T	ITGB2	c.1146C>A	NM_000211.3	NP_000202.2:p.(Tyr382Ter)	NC_000021.8:g.46313397G>T	(Likely) pathogenic	1 lab	17540522f6
X:24329150 SUPT20HL2 TTGTGGCTGCAGCAGCAGCAGCGGC>T	X	24329150	24329183	TTGTGGCTGCAGCAGCAGCAGCGGC	T	SUPT20HL2	c.2259_2282del	NM_001136233.3	NP_001129705.3:p.(Leu755_Pro762del)	NC_000023.10:g.24329160_24329183del	VUS	1 lab	175483159f
X:69250327 EDA G>T	X	69250327	69250327	G	T	EDA	c.750G>T	NM_001399.4	NP_001390.1:p.(Val250=)	NC_000023.10:g.69250327G>T	VUS	1 lab	1754851da5
22:51159067 MISSING G>A	22	51159067	51159067	G	A	MISSING				NC_000022.10:g.51159067G>A	(Likely) benign	1 lab	1756fe4146
15:67479795 SMAD3 C>T	15	67479795	67479795	C	T	SMAD3	c.1102C>T	NM_005902.3	NP_005893.1:p.(Arg368Ter)	NC_000015.9:g.67479795C>T	(Likely) pathogenic	1 lab	175729ecfe
4:6304059 WFS1 G>C	4	6304059	6304059	G	C	WFS1	c.2537G>C	NM_006005.3	NP_005996.2:p.(Ser846Thr)	NC_000004.11:g.6304059G>C	(Likely) benign	1 lab	175a023b43
X:69263517 AWAT2 C>T	X	69263517	69263517	C	T	AWAT2	c.283G>A	NM_001002254.1	NP_001002254.1:p.(Asp95Asn)	NC_000023.10:g.69263517C>T	(Likely) benign	1 lab	175a452f39
17:42338066 SLC4A1 G>A	17	42338066	42338066	G	A	SLC4A1	c.286C>T	NM_000342.3	NP_000333.1:p.(Arg96Cys)	NC_000017.10:g.42338066G>A	VUS	1 lab	175c4560b5
11:125885133 CDON T>C	11	125885133	125885133	T	C	CDON	c.1198+3A>G	NM_001243597.1	NP_001230526.1:p.?	NC_000011.9:g.125885133T>C	VUS	1 lab	175c97cc9c
17:19564581 ALDH3A2 G>C	17	19564581	19564581	G	C	ALDH3A2	c.940G>C	NM_001031806.1	NP_001026976.1:p.(Ala314Pro)	NC_000017.10:g.19564581G>C	VUS	1 lab	175cc9cc4f
9:4576045 SLC1A1 T>C	9	4576045	4576045	T	C	SLC1A1	c.920T>C	NM_004170.5	NP_004161.4:p.(Ile307Thr)	NC_000009.11:g.4576045T>C	(Likely) benign	1 lab	175ce148df
11:93523838 MED17 C>T	11	93523838	93523838	C	T	MED17	c.516C>T	NM_004268.4	NP_004259.3:p.(Thr172=)	NC_000011.9:g.93523838C>T	(Likely) benign	1 lab	175da2bb61
22:38120668 TRIOBP A>G	22	38120668	38120668	A	G	TRIOBP	c.2105A>G	NM_001039141.2	NP_001034230.1:p.(Gln702Arg)	NC_000022.10:g.38120668A>G	(Likely) benign	1 lab	175e7254de
19:54327415 NLRP12 G>T	19	54327415	54327415	G	T	NLRP12	c.14C>A	NM_001277126.1	NP_001264055.1:p.(Ala5Glu)	NC_000019.9:g.54327415G>T	(Likely) benign	1 lab	175fa18b65
4:995887 IDUA G>C	4	995887	995887	G	C	IDUA	c.514G>C	NM_001363576.1	NP_001350505.1:p.(Val172Leu)	NC_000004.11:g.995887G>C	VUS	1 lab	175fae22cb
9:139391287 NOTCH1 TGGACCCG>T	9	139391287	139391294	TGGACCCG	T	NOTCH1	c.6897_6903del	NM_017617.5	NP_060087.3:p.(Gly2300ProfsTer3)	NC_000009.11:g.139391288_139391294del	(Likely) pathogenic	1 lab	e3cbda6504
13:23909993 SACS A>G	13	23909993	23909993	A	G	SACS	c.8022T>C	NM_014363.5	NP_055178.3:p.(Phe2674=)	NC_000013.10:g.23909993A>G	(Likely) benign	1 lab	176342c0a2
17:29486112 NF1 G>A	17	29486112	29486112	G	A	NF1	c.288+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486112G>A	(Likely) pathogenic	1 lab	1766e581d9
8:145745829 LRRC14 G>T	8	145745829	145745829	G	T	LRRC14	c.537G>T	NM_001272036.1	NP_001258965.1:p.(Ala179=)	NC_000008.10:g.145745829G>T	(Likely) benign	1 lab	176a30cd6f
X:152821523 ATP2B3 G>A	X	152821523	152821523	G	A	ATP2B3	c.2075G>A	NM_021949.3	NP_068768.2:p.(Arg692Gln)	NC_000023.10:g.152821523G>A	(Likely) benign	1 lab	176adcd380
2:65248201 SLC1A4 C>A	2	65248201	65248201	C	A	SLC1A4	c.1520C>A	NM_003038.4	NP_003029.2:p.(Ser507Ter)	NC_000002.11:g.65248201C>A	VUS	1 lab	176d811591
12:31242845 DDX11 G>A	12	31242845	31242845	G	A	DDX11	c.906G>A	NM_030653.3	NP_085911.2:p.(Glu302=)	NC_000012.11:g.31242845G>A	(Likely) benign	1 lab	176e768cba
10:85957580 CDHR1 TG>T	10	85957580	85957582	TG	T	CDHR1	c.338del	NM_033100.4	NP_149091.1:p.(Gly113AlafsTer2)	NC_000010.10:g.85957582del	(Likely) pathogenic	1 lab	177099c5ea
17:29676190 NF1 TA>T	17	29676190	29676191	TA	T	NF1	c.7243del	NM_001042492.3	NP_001035957.1:p.(Thr2415HisfsTer3)	NC_000017.10:g.29676191del	(Likely) pathogenic	1 lab	1770f111c2
3:132437832 NPHP3 A>G	3	132437832	132437832	A	G	NPHP3	c.670+6T>C	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132437832A>G	(Likely) benign	1 lab	1771f5e78e
8:27327362 CHRNA2 G>A	8	27327362	27327362	G	A	CHRNA2	c.210C>T	NM_000742.3	NP_000733.2:p.(Tyr70=)	NC_000008.10:g.27327362G>A	(Likely) benign	1 lab	17723f26fc
19:40901839 PRX G>C	19	40901839	40901839	G	C	PRX	c.2420C>G	NM_181882.2	NP_870998.2:p.(Pro807Arg)	NC_000019.9:g.40901839G>C	VUS	1 lab	177281327b
7:92118612 PEX1 A>G	7	92118612	92118612	A	G	PEX1	c.3138T>C	NM_001282678.1	NP_001269607.1:p.(Ala1046=)	NC_000007.13:g.92118612A>G	(Likely) benign	1 lab	17746deb05
6:7572251 DSP G>A	6	7572251	7572251	G	A	DSP	c.2080G>A	NM_004415.2	NP_004406.2:p.(Ala694Thr)	NC_000006.11:g.7572251G>A	(Likely) benign	1 lab	1775c1eeb8
11:18579828 UEVLD C>T	11	18579828	18579828	C	T	UEVLD	c.662G>A	NM_001040697.4	NP_001035787.1:p.(Gly221Glu)	NC_000011.9:g.18579828C>T	VUS	1 lab	1776bdb795
1:35453651 ZMYM6 A>C	1	35453651	35453651	A	C	ZMYM6	c.3032T>G	NM_007167.4	NP_009098.3:p.(Phe1011Cys)	NC_000001.10:g.35453651A>C	(Likely) benign	1 lab	1776e67b71
X:109963076 CHRDL1 G>A	X	109963076	109963076	G	A	CHRDL1	c.528C>T	NM_001143981.1	NP_001137453.1:p.(Cys176=)	NC_000023.10:g.109963076G>A	(Likely) benign	1 lab	177a413286
X:75650213 MAGEE1 G>A	X	75650213	75650213	G	A	MAGEE1	c.1890G>A	NM_020932.2	NP_065983.1:p.(Val630=)	NC_000023.10:g.75650213G>A	(Likely) benign	1 lab	177af0cd0c
7:151097211 WDR86 G>A	7	151097211	151097211	G	A	WDR86	c.280C>T	NM_001284260.1	NP_001271189.1:p.(Arg94Ter)	NC_000007.13:g.151097211G>A	VUS	1 lab	177bd50fc8
4:187518874 FAT1 G>A	4	187518874	187518874	G	A	FAT1	c.12330C>T	NM_005245.3	NP_005236.2:p.(Gly4110=)	NC_000004.11:g.187518874G>A	(Likely) benign	1 lab	177c71026c
16:81925110 PLCG2 A>G	16	81925110	81925110	A	G	PLCG2	c.901A>G	NM_002661.5	NP_002652.2:p.(Ile301Val)	NC_000016.9:g.81925110A>G	VUS	1 lab	e3cd17507c
X:21627654 CNKSR2 G>A	X	21627654	21627654	G	A	CNKSR2	c.2611G>A	NM_014927.4	NP_055742.2:p.(Val871Met)	NC_000023.10:g.21627654G>A	(Likely) benign	1 lab	177c82cf8a
1:158623056 SPTA1 G>C	1	158623056	158623056	G	C	SPTA1	c.3188+8C>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158623056G>C	(Likely) benign	1 lab	177e1bfd65
2:179458579 TTN G>C	2	179458579	179458579	G	C	TTN	c.58448C>G	NM_001267550.1	NP_001254479.1:p.(Pro19483Arg)	NC_000002.11:g.179458579G>C	VUS	1 lab	17806552c6
13:32913686 BRCA2 CT>C	13	32913686	32913687	CT	C	BRCA2	c.5195del	NM_000059.4	NP_000050.3:p.(Leu1732ProfsTer9)	NC_000013.10:g.32913687del	(Likely) pathogenic	1 lab	e3ce4feb10
2:21224887 APOB A>G	2	21224887	21224887	A	G	APOB	c.13407T>C	NM_000384.2	NP_000375.2:p.(Leu4469=)	NC_000002.11:g.21224887A>G	(Likely) benign	1 lab	1782275409
1:152285315 FLG G>A	1	152285315	152285315	G	A	FLG	c.2047C>T	NM_002016.1	NP_002007.1:p.(Arg683Cys)	NC_000001.10:g.152285315G>A	VUS	1 lab	1785f2ad11
15:23892750 MAGEL2 G>A	15	23892750	23892750	G	A	MAGEL2	c.140C>T	NM_019066.4	NP_061939.3:p.(Pro47Leu)	NC_000015.9:g.23892750G>A	VUS	1 lab	17864aea40
12:50355911 AQP5 G>A	12	50355911	50355911	G	A	AQP5	c.111G>A	NM_001651.3	NP_001642.1:p.(Ser37=)	NC_000012.11:g.50355911G>A	(Likely) benign	1 lab	1788e495d4
19:33392180 CEP89 G>A	19	33392180	33392180	G	A	CEP89	c.1704C>T	NM_032816.5	NP_116205.3:p.(Ala568=)	NC_000019.9:g.33392180G>A	(Likely) benign	1 lab	178acf1ce2
18:7037641 LAMA1 G>A	18	7037641	7037641	G	A	LAMA1	c.1673C>T	NM_005559.3	NP_005550.2:p.(Ala558Val)	NC_000018.9:g.7037641G>A	(Likely) benign	1 lab	178b65c05a
9:43915434 MISSING T>C	9	43915434	43915434	T	C	MISSING				NC_000009.11:g.43915434T>C	(Likely) benign	1 lab	178dc4f17f
17:56247417 OR4D2 C>A	17	56247417	56247417	C	A	OR4D2	c.401C>A	NM_001004707.3	NP_001004707.1:p.(Thr134Asn)	NC_000017.10:g.56247417C>A	VUS	1 lab	178ef8f173
16:23403795 COG7 C>T	16	23403795	23403795	C	T	COG7	c.2052G>A	NM_153603.3	NP_705831.1:p.(Ser684=)	NC_000016.9:g.23403795C>T	(Likely) benign	1 lab	178f2fd47f
6:86223578 SNX14 G>A	6	86223578	86223578	G	A	SNX14	c.2593C>T	NM_153816.5	NP_722523.1:p.(Leu865Phe)	NC_000006.11:g.86223578G>A	VUS	1 lab	1790d9fcdb
8:49832926 SNAI2 C>A	8	49832926	49832926	C	A	SNAI2	c.154G>T	NM_003068.5	NP_003059.1:p.(Ala52Ser)	NC_000008.10:g.49832926C>A	(Likely) benign	1 lab	1792a89c0a
14:105416398 AHNAK2 C>T	14	105416398	105416398	C	T	AHNAK2	c.5390G>A	NM_138420.3	NP_612429.2:p.(Gly1797Glu)	NC_000014.8:g.105416398C>T	(Likely) benign	1 lab	1792bfd037
12:116446675 MED13L A>T	12	116446675	116446675	A	T	MED13L	c.1543T>A	NM_015335.4	NP_056150.1:p.(Ser515Thr)	NC_000012.11:g.116446675A>T	(Likely) benign	1 lab	1792e95ac8
17:41063437 G6PC G>A	17	41063437	41063437	G	A	G6PC				NC_000017.10:g.41063437G>A	(Likely) benign	1 lab	186a553479
2:170029724 LRP2 G>C	2	170029724	170029724	G	C	LRP2	c.11025C>G	NM_004525.3	NP_004516.2:p.(Ala3675=)	NC_000002.11:g.170029724G>C	(Likely) benign	1 lab	17951e12b2
10:73270746 CDH23 C>T	10	73270746	73270746	C	T	CDH23	c.324C>T	NM_022124.5	NP_071407.4:p.(Ser108=)	NC_000010.10:g.73270746C>T	(Likely) benign	1 lab	1796917a2b
18:56414969 MALT1 C>T	18	56414969	56414969	C	T	MALT1	c.2370C>T	NM_006785.4	NP_006776.1:p.(Phe790=)	NC_000018.9:g.56414969C>T	(Likely) benign	1 lab	1796a71bc9
16:2156312 PKD1 G>A	16	2156312	2156312	G	A	PKD1	c.7490-7C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156312G>A	(Likely) benign	1 lab	1797bf6041
21:47556977 FTCD C>T	21	47556977	47556977	C	T	FTCD	c.1550G>A	NM_006657.2	NP_006648.1:p.(Arg517His)	NC_000021.8:g.47556977C>T	(Likely) benign	1 lab	17984b27de
7:50435899 MISSING A>G	7	50435899	50435899	A	G	MISSING				NC_000007.13:g.50435899A>G	(Likely) benign	1 lab	1798d0c572
12:6560488 CD27 G>C	12	6560488	6560488	G	C	CD27	c.713G>C	NM_001242.4	NP_001233.1:p.(Arg238Thr)	NC_000012.11:g.6560488G>C	VUS	1 lab	179a80986a
19:7707201 STXBP2 T>C	19	7707201	7707201	T	C	STXBP2	c.809T>C	NM_001272034.1	NP_001258963.1:p.(Ile270Thr)	NC_000019.9:g.7707201T>C	VUS	1 lab	179af42e0a
9:71687663 FXN C>A	9	71687663	71687663	C	A	FXN	c.618C>A	NM_000144.4	NP_000135.2:p.(Ser206=)	NC_000009.11:g.71687663C>A	(Likely) benign	1 lab	179cc5317d
19:1004931 GRIN3B C>T	19	1004931	1004931	C	T	GRIN3B	c.1431C>T	NM_138690.2	NP_619635.1:p.(Tyr477=)	NC_000019.9:g.1004931C>T	(Likely) benign	1 lab	179e6cc8fe
12:49432310 KMT2D G>A	12	49432310	49432310	G	A	KMT2D	c.8829C>T	NM_003482.3	NP_003473.3:p.(Asn2943=)	NC_000012.11:g.49432310G>A	(Likely) benign	1 lab	17acde991c
6:152265352 ESR1 C>T	6	152265352	152265352	C	T	ESR1	c.805C>T	NM_001122742.1	NP_001116214.1:p.(Arg269Cys)	NC_000006.11:g.152265352C>T	VUS	1 lab	17a35a8468
6:31696299 DDAH2 G>A	6	31696299	31696299	G	A	DDAH2	c.400C>T	NM_001303007.2	NP_001289936.1:p.(Arg134Trp)	NC_000006.11:g.31696299G>A	VUS	1 lab	17a4682f46
17:29653009 NF1 T>TG	17	29653009	29653010	T	TG	NF1	c.4945dup	NM_000267.3	NP_000258.1:p.(Ala1649GlyfsTer12)	NC_000017.10:g.29653010dup	(Likely) pathogenic	1 lab	17a7777377
17:40695295 NAGLU A>G	17	40695295	40695295	A	G	NAGLU	c.1271A>G	NM_000263.3	NP_000254.2:p.(Asn424Ser)	NC_000017.10:g.40695295A>G	VUS	1 lab	17a89609ff
4:79368033 FRAS1 C>T	4	79368033	79368033	C	T	FRAS1	c.6009C>T	NM_025074.7	NP_079350.5:p.(His2003=)	NC_000004.11:g.79368033C>T	(Likely) benign	1 lab	17a8f98e94
2:84972274 DNAH6 C>A	2	84972274	84972274	C	A	DNAH6	c.10413C>A	NM_001370.1	NP_001361.1:p.(His3471Gln)	NC_000002.11:g.84972274C>A	(Likely) benign	1 lab	17a9d28950
12:56740351 STAT2 G>A	12	56740351	56740351	G	A	STAT2	c.1907C>T	NM_198332.1	NP_938146.1:p.(Pro636Leu)	NC_000012.11:g.56740351G>A	VUS	1 lab	17aa505735
20:33507362 ACSS2 C>A	20	33507362	33507362	C	A	ACSS2	c.998C>A	NM_001076552.2	NP_001070020.2:p.(Thr333Lys)	NC_000020.10:g.33507362C>A	VUS	1 lab	17aa690771
1:216380762 USH2A G>A	1	216380762	216380762	G	A	USH2A	c.3169C>T	NM_206933.2	NP_996816.2:p.(Gln1057Ter)	NC_000001.10:g.216380762G>A	(Likely) pathogenic	1 lab	17ad577411
9:124073041 GSN G>A	9	124073041	124073041	G	A	GSN	c.539G>A	NM_001127663.1	NP_001121135.2:p.(Arg180Gln)	NC_000009.11:g.124073041G>A	VUS	1 lab	17ade47625
X:40572184 MED14 C>G	X	40572184	40572184	C	G	MED14	c.763G>C	NM_004229.3	NP_004220.2:p.(Glu255Gln)	NC_000023.10:g.40572184C>G	VUS	1 lab	17af54f7cf
5:131927019 RAD50 G>A	5	131927019	131927019	G	A	RAD50	c.1556G>A	NM_005732.3	NP_005723.2:p.(Arg519His)	NC_000005.9:g.131927019G>A	VUS	1 lab	17b089e017
14:54417301 BMP4 G>A	14	54417301	54417301	G	A	BMP4	c.676C>T	NM_001202.5	NP_001193.2:p.(Arg226Trp)	NC_000014.8:g.54417301G>A	VUS	1 lab	17b170f18c
5:78251306 ARSB G>T	5	78251306	78251306	G	T	ARSB	c.710C>A	NM_000046.4	NP_000037.2:p.(Ala237Asp)	NC_000005.9:g.78251306G>T	(Likely) pathogenic	1 lab	17b1867a5c
17:20355185 LGALS9B G>GA	17	20355185	20355188	G	GA	LGALS9B	c.683dup	NM_001367292.1	NP_001354221.1:p.(Ile229HisfsTer46)	NC_000017.10:g.20355188dup	VUS	1 lab	17b1df6226
16:1816531 MAPK8IP3 G>A	16	1816531	1816531	G	A	MAPK8IP3	c.2800G>A	NM_001040439.2	NP_001035529.1:p.(Glu934Lys)	NC_000016.9:g.1816531G>A	VUS	1 lab	e3d2bf09f3
9:1056852 DMRT2 C>T	9	1056852	1056852	C	T	DMRT2	c.1265C>T	NM_181872.4	NP_870987.2:p.(Ala422Val)	NC_000009.11:g.1056852C>T	(Likely) benign	1 lab	17b5ae95ea
5:95768729 PCSK1 C>T	5	95768729	95768729	C	T	PCSK1	c.18G>A	NM_000439.4	NP_000430.3:p.(Trp6Ter)	NC_000005.9:g.95768729C>T	(Likely) pathogenic	1 lab	17b6b490d9
16:731829 JMJD8 TGAG>T	16	731829	731834	TGAG	T	JMJD8	c.*962_*964del	NM_001005920.4	NP_001005920.3:p.?	NC_000016.9:g.731832_731834del	VUS	1 lab	17b6ef002c
X:85156198 CHM AAAG>A	X	85156198	85156205	AAAG	A	CHM	c.1245-8_1245-6del	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85156203_85156205del	(Likely) benign	1 lab	17b93bef8b
22:38165363 TRIOBP G>A	22	38165363	38165363	G	A	TRIOBP	c.6830G>A	NM_001039141.2	NP_001034230.1:p.(Arg2277Gln)	NC_000022.10:g.38165363G>A	VUS	1 lab	17ba7361f5
10:100195167 HPS1 C>A	10	100195167	100195167	C	A	HPS1	c.260G>T	NM_001322477.1	NP_001309406.1:p.(Gly87Val)	NC_000010.10:g.100195167C>A	VUS	1 lab	17bbd4fa7e
20:398440 RBCK1 G>A	20	398440	398440	G	A	RBCK1	c.200G>A	NM_006462.5	NP_006453.1:p.(Arg67Gln)	NC_000020.10:g.398440G>A	(Likely) benign	1 lab	17bc0c34bd
17:79220126 SLC38A10 C>T	17	79220126	79220126	C	T	SLC38A10	c.2590G>A	NM_001037984.3	NP_001033073.1:p.(Ala864Thr)	NC_000017.10:g.79220126C>T	(Likely) benign	1 lab	17be50802a
X:23740098 ACOT9 A>G	X	23740098	23740098	A	G	ACOT9	c.488T>C	NM_001037171.1	NP_001032248.1:p.(Met163Thr)	NC_000023.10:g.23740098A>G	VUS	1 lab	17bedabbde
X:114882220 PLS3 C>T	X	114882220	114882220	C	T	PLS3	c.1604C>T	NM_001282337.1	NP_001269266.1:p.(Thr535Met)	NC_000023.10:g.114882220C>T	VUS	1 lab	17bf09ca52
15:28420810 HERC2 A>G	15	28420810	28420810	A	G	HERC2	c.9687-8T>C	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28420810A>G	(Likely) benign	1 lab	17bf0b158c
8:38003911 STAR G>A	8	38003911	38003911	G	A	STAR	c.361C>T	NM_000349.2	NP_000340.2:p.(Arg121Trp)	NC_000008.10:g.38003911G>A	VUS	1 lab	17bf0bb9e9
16:50745868 NOD2 G>T	16	50745868	50745868	G	T	NOD2	c.2046G>T	NM_022162.1	NP_071445.1:p.(Leu682Phe)	NC_000016.9:g.50745868G>T	VUS	1 lab	17bf4cdb29
9:116356373 RGS3 G>A	9	116356373	116356373	G	A	RGS3	c.174G>A	NM_144489.3	NP_652760.2:p.(Leu58=)	NC_000009.11:g.116356373G>A	(Likely) benign	1 lab	17c0294509
17:2570426 PAFAH1B1 C>CA	17	2570426	2570427	C	CA	PAFAH1B1	c.334dup	NM_000430.3	NP_000421.1:p.(Thr112AsnfsTer22)	NC_000017.10:g.2570427dup	(Likely) pathogenic	1 lab	17c2b3153d
12:52985312 KRT72 C>T	12	52985312	52985312	C	T	KRT72	c.899G>A	NM_080747.2	NP_542785.1:p.(Arg300His)	NC_000012.11:g.52985312C>T	VUS	1 lab	17c5d06851
11:47354734 MYBPC3 C>CCTGG	11	47354734	47354738	C	CCTGG	MYBPC3	c.3330+7_3330+10dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354735_47354738dup	(Likely) benign	1 lab	17c863ab73
3:186971048 MASP1 G>A	3	186971048	186971048	G	A	MASP1	c.800C>T	NM_001879.5	NP_001870.3:p.(Pro267Leu)	NC_000003.11:g.186971048G>A	(Likely) benign	1 lab	17c95bbaa2
10:78943225 KCNMA1 C>T	10	78943225	78943225	C	T	KCNMA1	c.762G>A	NM_001322830.1	NP_001309759.1:p.(Thr254=)	NC_000010.10:g.78943225C>T	(Likely) benign	1 lab	17ca3576f4
20:61944284 COL20A1 G>A	20	61944284	61944284	G	A	COL20A1	c.2074G>A	NM_020882.2	NP_065933.2:p.(Glu692Lys)	NC_000020.10:g.61944284G>A	VUS	1 lab	17cdc10b42
X:153583212 FLNA T>C	X	153583212	153583212	T	C	FLNA	c.5198A>G	NM_001110556.2	NP_001104026.1:p.(Asn1733Ser)	NC_000023.10:g.153583212T>C	VUS	1 lab	17ceb6bf47
16:27788317 KATNIP G>T	16	27788317	27788317	G	T	KATNIP	c.4518G>T	NM_015202.3	NP_056017.3:p.(Ala1506=)	NC_000016.9:g.27788317G>T	(Likely) benign	1 lab	17d178c0ef
18:44102099 LOXHD1 C>T	18	44102099	44102099	C	T	LOXHD1	c.5050G>A	NM_144612.6	NP_653213.6:p.(Ala1684Thr)	NC_000018.9:g.44102099C>T	(Likely) benign	1 lab	17d1936c44
X:34148689 FAM47A G>T	X	34148689	34148689	G	T	FAM47A	c.1707C>A	NM_203408.3	NP_981953.2:p.(Phe569Leu)	NC_000023.10:g.34148689G>T	(Likely) benign	1 lab	17d327bb56
16:71884014 ATXN1L A>G	16	71884014	71884014	A	G	ATXN1L	c.371A>G	NM_001137675.4	NP_001131147.1:p.(Tyr124Cys)	NC_000016.9:g.71884014A>G	VUS	1 lab	17d40ac5bc
8:145737545 RECQL4 G>A	8	145737545	145737545	G	A	RECQL4	c.3218C>T	NM_004260.3	NP_004251.3:p.(Thr1073Ile)	NC_000008.10:g.145737545G>A	(Likely) benign	1 lab	17d67db45d
15:43044960 TTBK2 T>G	15	43044960	43044960	T	G	TTBK2	c.2484A>C	NM_173500.3	NP_775771.3:p.(Thr828=)	NC_000015.9:g.43044960T>G	(Likely) benign	1 lab	17d67dbe56
9:135801011 TSC1 TGA>T	9	135801011	135801018	TGA	T	TSC1	c.324_325del	NM_000368.5	NP_000359.1:p.(Gln109SerfsTer16)	NC_000009.11:g.135801017_135801018del	(Likely) pathogenic	1 lab	17d82f275d
19:2114145 AP3D1 C>A	19	2114145	2114145	C	A	AP3D1	c.2580G>T	NM_001261826.3	NP_001248755.1:p.(Lys860Asn)	NC_000019.9:g.2114145C>A	(Likely) benign	1 lab	17d9c0b766
12:32945384 PKP2 T>C	12	32945384	32945384	T	C	PKP2	c.2620A>G	NM_004572.3	NP_004563.2:p.(Lys874Glu)	NC_000012.11:g.32945384T>C	VUS	1 lab	17db6f0aac
3:193355829 OPA1 AGAT>A	3	193355829	193355837	AGAT	A	OPA1	c.1130_1132del	NM_130837.3	NP_570850.2:p.(Met377del)	NC_000003.11:g.193355835_193355837del	VUS	1 lab	17db8e26e0
15:28473399 HERC2 A>G	15	28473399	28473399	A	G	HERC2	c.5429T>C	NM_004667.5	NP_004658.3:p.(Met1810Thr)	NC_000015.9:g.28473399A>G	(Likely) benign	1 lab	17df8557c5
14:102471434 DYNC1H1 C>T	14	102471434	102471434	C	T	DYNC1H1	c.5294C>T	NM_001376.4	NP_001367.2:p.(Ala1765Val)	NC_000014.8:g.102471434C>T	(Likely) benign	1 lab	17dfde1162
8:141294071 TRAPPC9 G>C	8	141294071	141294071	G	C	TRAPPC9	c.2325C>G	NM_031466.6	NP_113654.4:p.(Asn775Lys)	NC_000008.10:g.141294071G>C	VUS	1 lab	17e0316ea4
3:142215368 ATR GGAAGTAAC>A	3	142215368	142215376	GGAAGTAAC	A	ATR	c.5739-14_5739-6delinsT	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142215368_142215376delinsA	(Likely) benign	1 lab	17e22e5d16
7:751166 PRKAR1B T>C	7	751166	751166	T	C	PRKAR1B	c.-22-2A>G	NM_001164761.1	NP_001158233.1:p.?	NC_000007.13:g.751166T>C	VUS	1 lab	17e2441126
10:79397371 KCNMA1 G>GCCT	10	79397371	79397374	G	GCCT	KCNMA1	c.29_30insAGG	NM_002247.4	NP_002238.2:p.(Gly10dup)	NC_000010.10:g.79397373_79397374insTCC	VUS	1 lab	e3d3c459d1
12:69991812 CCT2 A>G	12	69991812	69991812	A	G	CCT2	c.1155A>G	NM_001198842.1	NP_001185771.1:p.(Glu385=)	NC_000012.11:g.69991812A>G	(Likely) benign	1 lab	17e2a81932
2:230724200 TRIP12 C>T	2	230724200	230724200	C	T	TRIP12	c.315G>A	NM_001348322.1	NP_001335251.1:p.(Val105=)	NC_000002.11:g.230724200C>T	(Likely) benign	1 lab	17e2aab9fd
2:234638245 UGT1A3 C>G	2	234638245	234638245	C	G	UGT1A3	c.473C>G	NM_019093.2	NP_061966.1:p.(Ala158Gly)	NC_000002.11:g.234638245C>G	(Likely) benign	1 lab	17e4677e54
20:35526228 SAMHD1 C>T	20	35526228	35526228	C	T	SAMHD1	c.1743G>A	NM_015474.3	NP_056289.2:p.(Pro581=)	NC_000020.10:g.35526228C>T	(Likely) benign	1 lab	17e482549e
3:121491466 IQCB1 C>T	3	121491466	121491466	C	T	IQCB1	c.1505G>A	NM_001023570.3	NP_001018864.2:p.(Arg502Gln)	NC_000003.11:g.121491466C>T	(Likely) benign	1 lab	17e6da3936
6:129813606 LAMA2 C>T	6	129813606	129813606	C	T	LAMA2	c.8222C>T	NM_000426.3	NP_000417.2:p.(Thr2741Met)	NC_000006.11:g.129813606C>T	(Likely) benign	1 lab	17e8073614
19:50412323 NUP62 C>T	19	50412323	50412323	C	T	NUP62	c.742G>A	NM_016553.4	NP_057637.2:p.(Ala248Thr)	NC_000019.9:g.50412323C>T	(Likely) benign	1 lab	17e81977f8
6:13307909 TBC1D7 G>A	6	13307909	13307909	G	A	TBC1D7	c.588C>T	NM_016495.5	NP_057579.1:p.(Ser196=)	NC_000006.11:g.13307909G>A	(Likely) benign	1 lab	17e9198a4c
1:40542573 PPT1 A>G	1	40542573	40542573	A	G	PPT1	c.739T>C	NM_000310.3	NP_000301.1:p.(Tyr247His)	NC_000001.10:g.40542573A>G	(Likely) pathogenic	1 lab	17e9449dfa
1:152283750 FLG AG>A	1	152283750	152283751	AG	A	FLG	c.3611del	NM_002016.2	NP_002007.1:p.(Ser1204LeufsTer242)	NC_000001.10:g.152283751del	(Likely) pathogenic	1 lab	e3d4205eec
7:98987619 ARPC1B T>G	7	98987619	98987619	T	G	ARPC1B	c.484T>G	NM_005720.4	NP_005711.1:p.(Cys162Gly)	NC_000007.13:g.98987619T>G	VUS	1 lab	17ece5c974
17:2568663 PAFAH1B1 C>T	17	2568663	2568663	C	T	PAFAH1B1	c.33-3C>T	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2568663C>T	VUS	1 lab	17f0528f4e
5:172660057 NKX2-5 A>G	5	172660057	172660057	A	G	NKX2-5	c.490T>C	NM_004387.3	NP_004378.1:p.(Ser164Pro)	NC_000005.9:g.172660057A>G	VUS	1 lab	17f0d2af62
4:41683026 LIMCH1 G>T	4	41683026	41683026	G	T	LIMCH1	c.3667G>T	NM_001330672.2	NP_001317601.1:p.(Ala1223Ser)	NC_000004.11:g.41683026G>T	VUS	1 lab	17f1c69c7b
14:21860866 CHD8 A>G	14	21860866	21860866	A	G	CHD8	c.6571T>C	NM_001170629.1	NP_001164100.1:p.(Leu2191=)	NC_000014.8:g.21860866A>G	(Likely) benign	1 lab	17f342baf4
4:79158704 FRAS1 G>A	4	79158704	79158704	G	A	FRAS1	c.149G>A	NM_025074.7	NP_079350.5:p.(Arg50His)	NC_000004.11:g.79158704G>A	(Likely) benign	1 lab	17f889d7d2
11:64975584 CAPN1 C>T	11	64975584	64975584	C	T	CAPN1	c.1664C>T	NM_001198868.1	NP_001185797.1:p.(Ala555Val)	NC_000011.9:g.64975584C>T	VUS	1 lab	17f9ed9c7f
15:83532943 HOMER2 G>A	15	83532943	83532943	G	A	HOMER2	c.363C>T	NM_199330.2	NP_955362.1:p.(Ile121=)	NC_000015.9:g.83532943G>A	(Likely) benign	1 lab	17fb6ced38
2:28825712 PLB1 G>A	2	28825712	28825712	G	A	PLB1	c.2698G>A	NM_153021.4	NP_694566.4:p.(Val900Met)	NC_000002.11:g.28825712G>A	VUS	1 lab	17fc61c9d9
3:49455393 AMT T>C	3	49455393	49455393	T	C	AMT	c.891A>G	NM_000481.3	NP_000472.2:p.(Arg297=)	NC_000003.11:g.49455393T>C	(Likely) benign	1 lab	17fca66ad4
17:61560917 ACE C>A	17	61560917	61560917	C	A	ACE	c.1584C>A	NM_000789.3	NP_000780.1:p.(Ile528=)	NC_000017.10:g.61560917C>A	(Likely) benign	1 lab	17fce0b656
X:8138662 VCX2 G>A	X	8138662	8138662	G	A	VCX2	c.23C>T	NM_016378.3	NP_057462.2:p.(Ser8Leu)	NC_000023.10:g.8138662G>A	(Likely) benign	1 lab	17fd336c89
4:126372854 FAT4 C>T	4	126372854	126372854	C	T	FAT4	c.10689C>T	NM_001291303.1	NP_001278232.1:p.(Ser3563=)	NC_000004.11:g.126372854C>T	(Likely) benign	1 lab	17fe06dff6
19:17945735 JAK3 A>T	19	17945735	17945735	A	T	JAK3	c.2125T>A	NM_000215.3	NP_000206.2:p.(Trp709Arg)	NC_000019.9:g.17945735A>T	VUS	1 lab	17fe0e1307
X:48767104 SLC35A2 G>A	X	48767104	48767104	G	A	SLC35A2	c.345C>T	NM_001282651.1	NP_001269580.1:p.(Phe115=)	NC_000023.10:g.48767104G>A	(Likely) benign	1 lab	17ff584abd
17:41244775 BRCA1 T>G	17	41244775	41244775	T	G	BRCA1	c.2773A>C	NM_007294.3	NP_009225.1:p.(Ile925Leu)	NC_000017.10:g.41244775T>G	(Likely) benign	1 lab	18004fd51f
X:111003104 ALG13 C>G	X	111003104	111003104	C	G	ALG13	c.3057C>G	NM_001257231.1	NP_001244160.1:p.(Pro1019=)	NC_000023.10:g.111003104C>G	(Likely) benign	1 lab	1801e40819
19:55665452 TNNI3 C>A	19	55665452	55665452	C	A	TNNI3	c.495G>T	NM_000363.4	NP_000354.4:p.(Glu165Asp)	NC_000019.9:g.55665452C>A	(Likely) benign	1 lab	18021b326c
4:1807786 FGFR3 C>T	4	1807786	1807786	C	T	FGFR3	c.1851C>T	NM_001163213.1	NP_001156685.1:p.(His617=)	NC_000004.11:g.1807786C>T	(Likely) benign	1 lab	1802afa019
19:42364883 RPS19 G>C	19	42364883	42364883	G	C	RPS19	c.39G>C	NM_001321485.1	NP_001308414.1:p.(Glu13Asp)	NC_000019.9:g.42364883G>C	(Likely) benign	1 lab	180342b98b
16:11000518 CIITA G>A	16	11000518	11000518	G	A	CIITA	c.1172G>A	NM_001286402.1	NP_001273331.1:p.(Arg391Gln)	NC_000016.9:g.11000518G>A	VUS	1 lab	e3da72b5ed
X:67937729 STARD8 C>T	X	67937729	67937729	C	T	STARD8	c.973C>T	NM_001142503.2	NP_001135975.1:p.(His325Tyr)	NC_000023.10:g.67937729C>T	(Likely) benign	1 lab	180516479d
9:130496767 TOR2A G>A	9	130496767	130496767	G	A	TOR2A	c.228C>T	NM_130459.3	NP_569726.2:p.(Ala76=)	NC_000009.11:g.130496767G>A	(Likely) benign	1 lab	180586af71
2:152499805 NEB G>A	2	152499805	152499805	G	A	NEB	c.8019C>T	NM_001271208.1	NP_001258137.1:p.(Leu2673=)	NC_000002.11:g.152499805G>A	(Likely) benign	1 lab	180727639d
3:100559663 ABI3BP C>A	3	100559663	100559663	C	A	ABI3BP	c.1612+1G>T	NM_001349329.1	NP_001336258.1:p.?	NC_000003.11:g.100559663C>A	VUS	1 lab	1807c70a0f
22:30057329 NF2 G>T	22	30057329	30057329	G	T	NF2	c.810+1G>T	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30057329G>T	(Likely) pathogenic	1 lab	1808212e59
8:95835788 INTS8 G>C	8	95835788	95835788	G	C	INTS8	c.129G>C	NM_017864.3	NP_060334.2:p.(Pro43=)	NC_000008.10:g.95835788G>C	(Likely) benign	1 lab	180a21a505
8:41547751 ANK1 G>A	8	41547751	41547751	G	A	ANK1	c.4221C>T	NM_001142446.1	NP_001135918.1:p.(Cys1407=)	NC_000008.10:g.41547751G>A	(Likely) benign	1 lab	180c1a133b
X:124097495 TENM1 T>G	X	124097495	124097495	T	G	TENM1	c.108A>C	NM_001163278.1	NP_001156750.1:p.(Pro36=)	NC_000023.10:g.124097495T>G	(Likely) benign	1 lab	180c337b2c
19:1221341 STK11 T>C	19	1221341	1221341	T	C	STK11	c.862+2T>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1221341T>C	(Likely) pathogenic	1 lab	180d5424b8
16:2152418 PKD1 G>T	16	2152418	2152418	G	T	PKD1	c.9165C>A	NM_001009944.2	NP_001009944.2:p.(Leu3055=)	NC_000016.9:g.2152418G>T	(Likely) benign	1 lab	180d55fac7
12:126135257 TMEM132B G>A	12	126135257	126135257	G	A	TMEM132B	c.1657G>A	NM_052907.3	NP_443139.2:p.(Asp553Asn)	NC_000012.11:g.126135257G>A	VUS	1 lab	180d74a01d
19:41060086 SPTBN4 C>A	19	41060086	41060086	C	A	SPTBN4	c.4708C>A	NM_020971.2	NP_066022.2:p.(Arg1570Ser)	NC_000019.9:g.41060086C>A	VUS	1 lab	180dd27dbc
X:131216453 FRMD7 C>T	X	131216453	131216453	C	T	FRMD7	c.843G>A	NM_194277.2	NP_919253.1:p.(Ser281=)	NC_000023.10:g.131216453C>T	(Likely) benign	1 lab	180f45d20b
15:23891480 MAGEL2 A>G	15	23891480	23891480	A	G	MAGEL2	c.1410T>C	NM_019066.4	NP_061939.3:p.(Pro470=)	NC_000015.9:g.23891480A>G	(Likely) benign	1 lab	1810eb1f70
17:29585419 NF1 C>G	17	29585419	29585419	C	G	NF1	c.4231C>G	NM_001042492.2	NP_001035957.1:p.(Leu1411Val)	NC_000017.10:g.29585419C>G	VUS	1 lab	1811e2dc9e
X:57620587 ZXDB T>C	X	57620587	57620587	T	C	ZXDB	c.2106T>C	NM_007157.3	NP_009088.1:p.(Ser702=)	NC_000023.10:g.57620587T>C	VUS	1 lab	18145753fe
18:44087585 LOXHD1 A>C	18	44087585	44087585	A	C	LOXHD1	c.5422T>G	NM_144612.6	NP_653213.6:p.(Cys1808Gly)	NC_000018.9:g.44087585A>C	VUS	1 lab	1815dc097d
4:122754451 BBS7 T>C	4	122754451	122754451	T	C	BBS7	c.1611A>G	NM_176824.2	NP_789794.1:p.(Ala537=)	NC_000004.11:g.122754451T>C	(Likely) benign	1 lab	18168dda5e
5:138643851 MATR3 G>A	5	138643851	138643851	G	A	MATR3	c.747G>A	NM_199189.2	NP_954659.1:p.(Glu249=)	NC_000005.9:g.138643851G>A	(Likely) benign	1 lab	181691ed00
17:29560161 NF1 CAAT>C	17	29560161	29560164	CAAT	C	NF1	c.3639_3641del	NM_001042492.3	NP_001035957.1:p.(Met1215del)	NC_000017.10:g.29560162_29560164del	(Likely) pathogenic	1 lab	1816b2a97e
5:171774299 SH3PXD2B C>T	5	171774299	171774299	C	T	SH3PXD2B	c.1050G>A	NM_001017995.2	NP_001017995.1:p.(Arg350=)	NC_000005.9:g.171774299C>T	(Likely) benign	1 lab	1817c03f45
2:242681931 D2HGDH C>G	2	242681931	242681931	C	G	D2HGDH	c.432C>G	NM_152783.4	NP_689996.4:p.(Asp144Glu)	NC_000002.11:g.242681931C>G	VUS	1 lab	181821f829
4:123170666 BLTP1 A>G	4	123170666	123170666	A	G	BLTP1	c.5539A>G	NM_015312.3	NP_056127.2:p.(Ile1847Val)	NC_000004.11:g.123170666A>G	VUS	1 lab	1819951470
5:178421631 GRM6 C>T	5	178421631	178421631	C	T	GRM6	c.315G>A	NM_000843.4	NP_000834.2:p.(Ala105=)	NC_000005.9:g.178421631C>T	(Likely) benign	1 lab	1819f14d6f
21:42771218 MX2 G>A	21	42771218	42771218	G	A	MX2	c.1368G>A	NM_002463.2	NP_002454.1:p.(Glu456=)	NC_000021.8:g.42771218G>A	(Likely) benign	1 lab	181a67b659
16:27777693 KATNIP G>A	16	27777693	27777693	G	A	KATNIP	c.3873G>A	NM_015202.3	NP_056017.3:p.(Pro1291=)	NC_000016.9:g.27777693G>A	(Likely) benign	1 lab	181cf13286
17:1576732 PRPF8 G>A	17	1576732	1576732	G	A	PRPF8	c.3576C>T	NM_006445.3	NP_006436.3:p.(Phe1192=)	NC_000017.10:g.1576732G>A	(Likely) benign	1 lab	181d835cff
19:14031710 CC2D1A A>G	19	14031710	14031710	A	G	CC2D1A	c.1616A>G	NM_017721.4	NP_060191.3:p.(Asn539Ser)	NC_000019.9:g.14031710A>G	(Likely) benign	1 lab	181fadc765
2:167129065 SCN9A G>A	2	167129065	167129065	G	A	SCN9A	c.3162C>T	NM_002977.3	NP_002968.1:p.(Ser1054=)	NC_000002.11:g.167129065G>A	(Likely) benign	1 lab	e3db54a649
6:42936036 PEX6 G>A	6	42936036	42936036	G	A	PEX6	c.1680C>T	NM_000287.3	NP_000278.3:p.(Pro560=)	NC_000006.11:g.42936036G>A	(Likely) benign	1 lab	181fd2c5e5
11:128709545 KCNJ1 C>T	11	128709545	128709545	C	T	KCNJ1	c.594G>A	NM_153767.3	NP_722451.1:p.(Arg198=)	NC_000011.9:g.128709545C>T	(Likely) benign	1 lab	18209fa96d
7:146818240 CNTNAP2 G>A	7	146818240	146818240	G	A	CNTNAP2	c.924G>A	NM_014141.5	NP_054860.1:p.(Leu308=)	NC_000007.13:g.146818240G>A	(Likely) benign	1 lab	18221a78d0
1:44467241 SLC6A9 T>C	1	44467241	44467241	T	C	SLC6A9	c.1240A>G	NM_201649.3	NP_964012.2:p.(Ile414Val)	NC_000001.10:g.44467241T>C	VUS	1 lab	18221c88ef
9:135944460 CEL T>C	9	135944460	135944460	T	C	CEL	c.1109T>C	NM_001807.4	NP_001798.2:p.(Leu370Pro)	NC_000009.11:g.135944460T>C	VUS	1 lab	1822c7cadc
18:47500954 MYO5B C>T	18	47500954	47500954	C	T	MYO5B	c.1088G>A	NM_001080467.3	NP_001073936.1:p.(Arg363Gln)	NC_000018.9:g.47500954C>T	VUS	1 lab	e3df390e4d
17:3386791 ASPA A>G	17	3386791	3386791	A	G	ASPA	c.433-2A>G	NM_000049.4	NP_000040.1:p.?	NC_000017.10:g.3386791A>G	(Likely) pathogenic	1 lab	e3dfad56c8
22:32272181 DEPDC5 C>T	22	32272181	32272181	C	T	DEPDC5	c.3735C>T	NM_001242896.2	NP_001229825.1:p.(Gly1245=)	NC_000022.10:g.32272181C>T	(Likely) benign	1 lab	1826334db0
16:57954425 CNGB1 G>T	16	57954425	57954425	G	T	CNGB1	c.1667C>A	NM_001297.4	NP_001288.3:p.(Thr556Lys)	NC_000016.9:g.57954425G>T	(Likely) benign	1 lab	182689b6d1
2:228173944 COL4A3 G>T	2	228173944	228173944	G	T	COL4A3	c.4665G>T	NM_000091.4	NP_000082.2:p.(Ala1555=)	NC_000002.11:g.228173944G>T	(Likely) benign	1 lab	18269eca24
X:24844703 POLA1 A>G	X	24844703	24844703	A	G	POLA1	c.3721A>G	NM_001330360.1	NP_001317289.1:p.(Ile1241Val)	NC_000023.10:g.24844703A>G	(Likely) benign	1 lab	1828186e96
20:25656860 ZNF337 C>T	20	25656860	25656860	C	T	ZNF337	c.1064G>A	NM_001290261.1	NP_001277190.1:p.(Arg355Gln)	NC_000020.10:g.25656860C>T	(Likely) benign	1 lab	182868003e
13:103498692 ERCC5 A>G	13	103498692	103498692	A	G	ERCC5	c.76A>G	NM_000123.3	NP_000114.2:p.(Ile26Val)	NC_000013.10:g.103498692A>G	(Likely) benign	1 lab	182914fbf5
8:145738527 RECQL4 G>A	8	145738527	145738527	G	A	RECQL4	c.2464-6C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738527G>A	(Likely) benign	1 lab	1829706c6e
19:18280082 PIK3R2 G>T	19	18280082	18280082	G	T	PIK3R2	c.2165G>T	NM_005027.3	NP_005018.1:p.(Gly722Val)	NC_000019.9:g.18280082G>T	VUS	1 lab	182a33e24b
7:104752864 KMT2E C>T	7	104752864	104752864	C	T	KMT2E	c.4661C>T	NM_182931.2	NP_891847.1:p.(Ser1554Leu)	NC_000007.13:g.104752864C>T	VUS	1 lab	182a347f69
6:135769460 AHI1 C>T	6	135769460	135769460	C	T	AHI1	c.1594G>A	NM_001134831.1	NP_001128303.1:p.(Val532Ile)	NC_000006.11:g.135769460C>T	VUS	1 lab	182bb63e1d
13:20717033 GJA3 G>A	13	20717033	20717033	G	A	GJA3	c.395C>T	NM_021954.3	NP_068773.2:p.(Ser132Leu)	NC_000013.10:g.20717033G>A	(Likely) benign	1 lab	182e32aef5
11:108004982 ACAT1 G>T	11	108004982	108004982	G	T	ACAT1	c.273G>T	NM_000019.3	NP_000010.1:p.(Met91Ile)	NC_000011.9:g.108004982G>T	(Likely) benign	1 lab	182ed5528f
3:48507910 ATRIP A>G	3	48507910	48507910	A	G	ATRIP	c.*957A>G	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507910A>G	(Likely) benign	1 lab	182f8cfd0d
21:47422162 COL6A1 C>T	21	47422162	47422162	C	T	COL6A1	c.2097C>T	NM_001848.2	NP_001839.2:p.(Gly699=)	NC_000021.8:g.47422162C>T	(Likely) benign	1 lab	182faa0991
22:36960543 CACNG2 T>A	22	36960543	36960543	T	A	CACNG2	c.827A>T	NM_006078.5	NP_006069.1:p.(Asp276Val)	NC_000022.10:g.36960543T>A	VUS	1 lab	e3e4d4030c
9:94087614 AUH A>G	9	94087614	94087614	A	G	AUH	c.164T>C	NM_001351432.1	NP_001338361.1:p.(Val55Ala)	NC_000009.11:g.94087614A>G	(Likely) benign	1 lab	1831429c34
20:33068939 ITCH T>C	20	33068939	33068939	T	C	ITCH	c.2144T>C	NM_001324197.1	NP_001311126.1:p.(Ile715Thr)	NC_000020.10:g.33068939T>C	VUS	1 lab	1832becf59
9:136218926 SURF1 T>A	9	136218926	136218926	T	A	SURF1	c.823A>T	NM_003172.3	NP_003163.1:p.(Ile275Phe)	NC_000009.11:g.136218926T>A	VUS	1 lab	1835f772e6
7:100644387 MUC12 C>A	7	100644387	100644387	C	A	MUC12	c.10543C>A	NM_001164462.1	NP_001157934.1:p.(Leu3515Ile)	NC_000007.13:g.100644387C>A	(Likely) benign	1 lab	183989a97d
19:18879377 CRTC1 C>T	19	18879377	18879377	C	T	CRTC1	c.1142C>T	NM_001098482.1	NP_001091952.1:p.(Pro381Leu)	NC_000019.9:g.18879377C>T	VUS	1 lab	1839f6923f
9:123290996 CDK5RAP2 C>A	9	123290996	123290996	C	A	CDK5RAP2	c.879+26G>T	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123290996C>A	(Likely) benign	1 lab	183a0f8193
7:44561674 NPC1L1 C>T	7	44561674	44561674	C	T	NPC1L1	c.2805G>A	NM_013389.2	NP_037521.2:p.(Gln935=)	NC_000007.13:g.44561674C>T	(Likely) benign	1 lab	183ae212c9
16:77396164 ADAMTS18 A>G	16	77396164	77396164	A	G	ADAMTS18	c.541-3T>C	NM_001326358.1	NP_001313287.1:p.?	NC_000016.9:g.77396164A>G	(Likely) benign	1 lab	183dd1c3a9
9:5066683 JAK2 A>T	9	5066683	5066683	A	T	JAK2	c.1220A>T	NM_001322194.1	NP_001309123.1:p.(Asp407Val)	NC_000009.11:g.5066683A>T	VUS	1 lab	183e3fc10c
17:29588851 NF1 C>A	17	29588851	29588851	C	A	NF1	c.4637C>A	NM_000267.3	NP_000258.1:p.(Ser1546Ter)	NC_000017.10:g.29588851C>A	(Likely) pathogenic	1 lab	183e603d1c
X:47434613 SYN1 C>T	X	47434613	47434613	C	T	SYN1	c.1219G>A	NM_006950.3	NP_008881.2:p.(Val407Ile)	NC_000023.10:g.47434613C>T	VUS	1 lab	183f873064
2:232104710 ARMC9 C>T	2	232104710	232104710	C	T	ARMC9	c.835C>T	NM_001291656.1	NP_001278585.1:p.(Arg279Trp)	NC_000002.11:g.232104710C>T	VUS	1 lab	18420617ac
1:156132763 SEMA4A G>A	1	156132763	156132763	G	A	SEMA4A	c.1012G>A	NM_022367.4	NP_071762.2:p.(Val338Ile)	NC_000001.10:g.156132763G>A	VUS	1 lab	184267aac3
X:36065103 CFAP47 T>C	X	36065103	36065103	T	C	CFAP47	c.4140T>C	NM_001304548.1	NP_001291477.1:p.(Thr1380=)	NC_000023.10:g.36065103T>C	(Likely) benign	1 lab	184367a207
8:61732591 CHD7 A>G	8	61732591	61732591	A	G	CHD7	c.2639A>G	NM_017780.4	NP_060250.2:p.(Asp880Gly)	NC_000008.10:g.61732591A>G	VUS	1 lab	e3e6385ef1
1:197087024 ASPM G>A	1	197087024	197087024	G	A	ASPM	c.3960C>T	NM_018136.4	NP_060606.3:p.(Leu1320=)	NC_000001.10:g.197087024G>A	(Likely) benign	1 lab	1844e5ff0f
5:92923867 NR2F1 C>T	5	92923867	92923867	C	T	NR2F1	c.708C>T	NM_005654.5	NP_005645.1:p.(Asn236=)	NC_000005.9:g.92923867C>T	(Likely) benign	1 lab	1846870935
15:29561252 NSMCE3 T>C	15	29561252	29561252	T	C	NSMCE3	c.658A>G	NM_138704.3	NP_619649.1:p.(Lys220Glu)	NC_000015.9:g.29561252T>C	VUS	1 lab	18479c1100
22:29908024 THOC5 C>T	22	29908024	29908024	C	T	THOC5	c.1783G>A	NM_001002878.1	NP_001002878.1:p.(Asp595Asn)	NC_000022.10:g.29908024C>T	VUS	1 lab	184b258722
1:94493231 ABCA4 G>T	1	94493231	94493231	G	T	ABCA4	c.4539+1770C>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94493231G>T	(Likely) benign	1 lab	184bf3eacc
9:123280925 CDK5RAP2 T>C	9	123280925	123280925	T	C	CDK5RAP2	c.1093-2A>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123280925T>C	(Likely) pathogenic	1 lab	184d2a7416
17:29559864 NF1 A>T	17	29559864	29559864	A	T	NF1	c.3461A>T	NM_000267.3	NP_000258.1:p.(Asn1154Ile)	NC_000017.10:g.29559864A>T	(Likely) pathogenic	1 lab	184d4e5326
6:143784096 PEX3 A>G	6	143784096	143784096	A	G	PEX3	c.249A>G	NM_003630.2	NP_003621.1:p.(Gln83=)	NC_000006.11:g.143784096A>G	(Likely) benign	1 lab	184d50ee0a
6:152826468 SYNE1 C>A	6	152826468	152826468	C	A	SYNE1	c.646G>T	NM_182961.3	NP_892006.3:p.(Val216Phe)	NC_000006.11:g.152826468C>A	VUS	1 lab	18502abd2b
20:57429686 GNAS G>A	20	57429686	57429686	G	A	GNAS	c.1366G>A	NM_080425.3	NP_536350.2:p.(Gly456Arg)	NC_000020.10:g.57429686G>A	VUS	1 lab	1850dddd55
17:8790850 PIK3R5 G>A	17	8790850	8790850	G	A	PIK3R5	c.1767C>T	NM_014308.3	NP_055123.2:p.(His589=)	NC_000017.10:g.8790850G>A	(Likely) benign	1 lab	185259cd10
22:38509637 PLA2G6 G>C	22	38509637	38509637	G	C	PLA2G6	c.2059C>G	NM_003560.2	NP_003551.2:p.(Leu687Val)	NC_000022.10:g.38509637G>C	VUS	1 lab	18525f1984
1:237880555 RYR2 A>G	1	237880555	237880555	A	G	RYR2	c.10381A>G	NM_001035.2	NP_001026.2:p.(Met3461Val)	NC_000001.10:g.237880555A>G	(Likely) benign	1 lab	1852a71078
7:1518057 INTS1 G>A	7	1518057	1518057	G	A	INTS1	c.4575C>T	NM_001080453.3	NP_001073922.2:p.(Ile1525=)	NC_000007.13:g.1518057G>A	(Likely) benign	1 lab	1854a90064
6:44269816 AARS2 C>T	6	44269816	44269816	C	T	AARS2	c.2579G>A	NM_020745.3	NP_065796.1:p.(Arg860His)	NC_000006.11:g.44269816C>T	VUS	1 lab	1854e13106
1:236902624 ACTN2 C>T	1	236902624	236902624	C	T	ACTN2	c.899C>T	NM_001103.3	NP_001094.1:p.(Thr300Met)	NC_000001.10:g.236902624C>T	VUS	1 lab	1856165755
6:72960997 RIMS1 T>C	6	72960997	72960997	T	C	RIMS1	c.2624T>C	NM_014989.5	NP_055804.2:p.(Leu875Pro)	NC_000006.11:g.72960997T>C	VUS	1 lab	18568e90ee
17:74006507 EVPL G>A	17	74006507	74006507	G	A	EVPL	c.2845C>T	NM_001320747.1	NP_001307676.1:p.(Arg949Trp)	NC_000017.10:g.74006507G>A	VUS	1 lab	1856ca8250
16:89258859 CDH15 G>A	16	89258859	89258859	G	A	CDH15	c.1855+7G>A	NM_004933.2	NP_004924.1:p.?	NC_000016.9:g.89258859G>A	(Likely) benign	1 lab	1857093f53
5:150929005 FAT2 T>A	5	150929005	150929005	T	A	FAT2	c.4640A>T	NM_001447.2	NP_001438.1:p.(Asp1547Val)	NC_000005.9:g.150929005T>A	VUS	1 lab	18585e0be6
7:80286010 CD36 C>G	7	80286010	80286010	C	G	CD36	c.275C>G	NM_001001548.2	NP_001001548.1:p.(Thr92Arg)	NC_000007.13:g.80286010C>G	VUS	1 lab	1858f8e1e5
X:153001601 ABCD1 A>G	X	153001601	153001601	A	G	ABCD1	c.1117A>G	NM_000033.3	NP_000024.2:p.(Lys373Glu)	NC_000023.10:g.153001601A>G	(Likely) benign	1 lab	185bf89dc0
1:235647824 B3GALNT2 A>G	1	235647824	235647824	A	G	B3GALNT2	c.369T>C	NM_152490.4	NP_689703.1:p.(Asn123=)	NC_000001.10:g.235647824A>G	(Likely) benign	1 lab	185c764695
7:103123324 RELN C>T	7	103123324	103123324	C	T	RELN	c.10276G>A	NM_005045.4	NP_005036.2:p.(Val3426Ile)	NC_000007.13:g.103123324C>T	(Likely) benign	1 lab	e3efdd25a5
12:49439904 KMT2D G>A	12	49439904	49439904	G	A	KMT2D	c.4637C>T	NM_003482.3	NP_003473.3:p.(Ala1546Val)	NC_000012.11:g.49439904G>A	VUS	1 lab	1860ab5914
7:4213965 SDK1 A>G	7	4213965	4213965	A	G	SDK1	c.4912A>G	NM_152744.3	NP_689957.3:p.(Ile1638Val)	NC_000007.13:g.4213965A>G	(Likely) benign	1 lab	1862144989
5:149435669 CSF1R T>C	5	149435669	149435669	T	C	CSF1R	c.2474A>G	NM_001349736.1	NP_001336665.1:p.(Glu825Gly)	NC_000005.9:g.149435669T>C	VUS	1 lab	1862532601
X:13337614 ATXN3L C>T	X	13337614	13337614	C	T	ATXN3L	c.440G>A	NM_001135995.1	NP_001129467.1:p.(Cys147Tyr)	NC_000023.10:g.13337614C>T	(Likely) benign	1 lab	1863921acc
3:52439179 BAP1 G>A	3	52439179	52439179	G	A	BAP1	c.1063C>T	NM_004656.4	NP_004647.1:p.(Gln355Ter)	NC_000003.11:g.52439179G>A	(Likely) pathogenic	1 lab	e3f0dbf41b
1:181721293 CACNA1E G>A	1	181721293	181721293	G	A	CACNA1E	c.3746G>A	NM_000721.3	NP_000712.2:p.(Arg1249Gln)	NC_000001.10:g.181721293G>A	VUS	1 lab	18664bf64b
22:45996247 FBLN1 T>TG	22	45996247	45996248	T	TG	FBLN1	c.2034dup	NM_006486.2	NP_006477.2:p.(Asn679GlufsTer22)	NC_000022.10:g.45996248dup	VUS	1 lab	186662d149
11:113270344 ANKK1 G>A	11	113270344	113270344	G	A	ANKK1	c.1653G>A	NM_178510.1	NP_848605.1:p.(Ala551=)	NC_000011.9:g.113270344G>A	(Likely) benign	1 lab	1866edeb73
19:33701778 SLC7A10 C>T	19	33701778	33701778	C	T	SLC7A10	c.1043G>A	NM_019849.3	NP_062823.1:p.(Gly348Glu)	NC_000019.9:g.33701778C>T	VUS	1 lab	1867858697
4:110920947 EGF G>A	4	110920947	110920947	G	A	EGF	c.3118G>A	NM_001963.5	NP_001954.2:p.(Val1040Met)	NC_000004.11:g.110920947G>A	(Likely) benign	1 lab	1867d084c6
11:2416195 CD81 G>T	11	2416195	2416195	G	T	CD81	c.280-7G>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2416195G>T	(Likely) benign	1 lab	1868a541c0
X:142967338 UBE2NL T>G	X	142967338	142967338	T	G	UBE2NL	c.136T>G	NM_001012989.2	NP_001013007.1:p.(Ser46Ala)	NC_000023.10:g.142967338T>G	VUS	1 lab	1868d6eeb7
10:50732097 ERCC6 T>G	10	50732097	50732097	T	G	ERCC6	c.1379A>C	NM_001346440.1	NP_001333369.1:p.(Tyr460Ser)	NC_000010.10:g.50732097T>G	VUS	1 lab	186b221c41
6:112537639 LAMA4 G>A	6	112537639	112537639	G	A	LAMA4	c.227C>T	NM_001105206.2	NP_001098676.2:p.(Ser76Leu)	NC_000006.11:g.112537639G>A	VUS	1 lab	186c80804b
X:105168992 NRK C>A	X	105168992	105168992	C	A	NRK	c.3281C>A	NM_198465.3	NP_940867.2:p.(Pro1094His)	NC_000023.10:g.105168992C>A	(Likely) benign	1 lab	186cd69eb0
12:110781104 ATP2A2 C>T	12	110781104	110781104	C	T	ATP2A2	c.2386C>T	NM_170665.4	NP_733765.1:p.(Leu796=)	NC_000012.11:g.110781104C>T	(Likely) benign	1 lab	186cde52ef
22:31007002 TCN2 A>T	22	31007002	31007002	A	T	TCN2	c.209A>T	NM_001184726.1	NP_001171655.1:p.(Asp70Val)	NC_000022.10:g.31007002A>T	(Likely) benign	1 lab	186dddd526
11:10795626 CTR9 C>T	11	10795626	10795626	C	T	CTR9	c.2795C>T	NM_014633.5	NP_055448.1:p.(Ser932Phe)	NC_000011.9:g.10795626C>T	VUS	1 lab	e3f4d67b67
13:103513972 ERCC5 G>A	13	103513972	103513972	G	A	ERCC5	c.788G>A	NM_000123.3	NP_000114.2:p.(Arg263Gln)	NC_000013.10:g.103513972G>A	(Likely) benign	1 lab	187054626b
5:156533882 HAVCR2 G>A	5	156533882	156533882	G	A	HAVCR2	c.150C>T	NM_032782.4	NP_116171.3:p.(Pro50=)	NC_000005.9:g.156533882G>A	(Likely) benign	1 lab	1870e04351
19:55673164 DNAAF3 T>C	19	55673164	55673164	T	C	DNAAF3	c.714A>G	NM_001256714.1	NP_001243643.1:p.(Val238=)	NC_000019.9:g.55673164T>C	(Likely) benign	1 lab	1872dda9c9
6:70970391 COL9A1 A>G	6	70970391	70970391	A	G	COL9A1	c.1418T>C	NM_001851.4	NP_001842.3:p.(Ile473Thr)	NC_000006.11:g.70970391A>G	VUS	1 lab	1873d61ca3
17:48704076 CACNA1G C>T	17	48704076	48704076	C	T	CACNA1G	c.7098C>T	NM_018896.4	NP_061496.2:p.(Ser2366=)	NC_000017.10:g.48704076C>T	(Likely) benign	1 lab	187666b322
X:53461281 HSD17B10 C>T	X	53461281	53461281	C	T	HSD17B10	c.12G>A	NM_004493.2	NP_004484.1:p.(Ala4=)	NC_000023.10:g.53461281C>T	(Likely) benign	1 lab	18786aeee8
19:1049285 ABCA7 C>A	19	1049285	1049285	C	A	ABCA7	c.2401C>A	NM_019112.3	NP_061985.2:p.(Pro801Thr)	NC_000019.9:g.1049285C>A	(Likely) benign	1 lab	1878c9e086
X:46330585 KRABD4 A>G	X	46330585	46330585	A	G	KRABD4	c.262A>G	NM_001129899.1	NP_001123371.1:p.(Ile88Val)	NC_000023.10:g.46330585A>G	(Likely) benign	1 lab	1878ecd517
X:69460084 AWAT1 G>A	X	69460084	69460084	G	A	AWAT1	c.931G>A	NM_001013579.2	NP_001013597.1:p.(Asp311Asn)	NC_000023.10:g.69460084G>A	(Likely) benign	1 lab	18795ea398
12:49415819 KMT2D C>T	12	49415819	49415819	C	T	KMT2D	c.16521+7G>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49415819C>T	(Likely) benign	1 lab	1879e954ab
8:25280706 GNRH1 C>G	8	25280706	25280706	C	G	GNRH1	c.153G>C	NM_000825.3	NP_000816.4:p.(Glu51Asp)	NC_000008.10:g.25280706C>G	(Likely) benign	1 lab	187ae4c925
11:126294739 KIRREL3 G>A	11	126294739	126294739	G	A	KIRREL3	c.2073C>T	NM_032531.3	NP_115920.1:p.(Tyr691=)	NC_000011.9:g.126294739G>A	(Likely) benign	1 lab	187b4b9e1b
X:48340102 FTSJ1 C>T	X	48340102	48340102	C	T	FTSJ1	c.654C>T	NM_177439.2	NP_803188.1:p.(Tyr218=)	NC_000023.10:g.48340102C>T	(Likely) benign	1 lab	187c3c7277
2:179438623 TTN T>C	2	179438623	179438623	T	C	TTN	c.72236A>G	NM_001267550.1	NP_001254479.1:p.(Lys24079Arg)	NC_000002.11:g.179438623T>C	VUS	1 lab	187d51d035
16:81390427 GAN C>A	16	81390427	81390427	C	A	GAN	c.671C>A	NM_022041.3	NP_071324.1:p.(Ser224Ter)	NC_000016.9:g.81390427C>A	(Likely) pathogenic	1 lab	187db0427b
6:152749387 SYNE1 C>T	6	152749387	152749387	C	T	SYNE1	c.4929G>A	NM_182961.3	NP_892006.3:p.(Ala1643=)	NC_000006.11:g.152749387C>T	(Likely) benign	1 lab	187e105bc8
19:17692005 COLGALT1 T>C	19	17692005	17692005	T	C	COLGALT1	c.1621T>C	NM_024656.4	NP_078932.2:p.(Phe541Leu)	NC_000019.9:g.17692005T>C	VUS	1 lab	187f0796d6
22:34157366 LARGE1 C>T	22	34157366	34157366	C	T	LARGE1	c.98G>A	NM_004737.5	NP_004728.1:p.(Ser33Asn)	NC_000022.10:g.34157366C>T	(Likely) benign	1 lab	187fe47388
2:179410973 TTN C>A	2	179410973	179410973	C	A	TTN	c.95085G>T	NM_001267550.1	NP_001254479.1:p.(Gly31695=)	NC_000002.11:g.179410973C>A	VUS	1 lab	187ffc52cc
3:43474086 ANO10 A>T	3	43474086	43474086	A	T	ANO10	c.1914+17T>A	NM_018075.4	NP_060545.3:p.?	NC_000003.11:g.43474086A>T	(Likely) benign	1 lab	1881a5feba
X:107403730 COL4A6 A>G	X	107403730	107403730	A	G	COL4A6	c.4539T>C	NM_001287758.1	NP_001274687.1:p.(Phe1513=)	NC_000023.10:g.107403730A>G	(Likely) benign	1 lab	1882471b11
20:31384628 DNMT3B G>A	20	31384628	31384628	G	A	DNMT3B	c.1330G>A	NM_006892.3	NP_008823.1:p.(Val444Met)	NC_000020.10:g.31384628G>A	VUS	1 lab	188393ca8d
9:133759705 ABL1 C>T	9	133759705	133759705	C	T	ABL1	c.2085C>T	NM_007313.2	NP_009297.2:p.(Ser695=)	NC_000009.11:g.133759705C>T	(Likely) benign	1 lab	1884867ac2
19:44058860 XRCC1 G>A	19	44058860	44058860	G	A	XRCC1	c.352C>T	NM_006297.2	NP_006288.2:p.(Arg118Trp)	NC_000019.9:g.44058860G>A	VUS	1 lab	18849dc7df
3:38616895 SCN5A G>A	3	38616895	38616895	G	A	SCN5A	c.3559C>T	NM_198056.2	NP_932173.1:p.(Pro1187Ser)	NC_000003.11:g.38616895G>A	(Likely) benign	1 lab	1886cc956f
11:66114375 B4GAT1 A>G	11	66114375	66114375	A	G	B4GAT1	c.642T>C	NM_006876.2	NP_006867.1:p.(Asn214=)	NC_000011.9:g.66114375A>G	(Likely) benign	1 lab	18a364e874
7:141736734 MGAM G>T	7	141736734	141736734	G	T	MGAM	c.2188G>T	NM_004668.2	NP_004659.2:p.(Ala730Ser)	NC_000007.13:g.141736734G>T	VUS	1 lab	188895e238
11:76873922 MYO7A C>T	11	76873922	76873922	C	T	MYO7A	c.1578C>T	NM_000260.3	NP_000251.3:p.(His526=)	NC_000011.9:g.76873922C>T	(Likely) benign	1 lab	1888dd4866
9:135797177 TSC1 T>C	9	135797177	135797177	T	C	TSC1	c.663+29A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135797177T>C	(Likely) benign	1 lab	1889bb6577
9:75403272 TMC1 G>A	9	75403272	75403272	G	A	TMC1	c.902G>A	NM_138691.2	NP_619636.2:p.(Gly301Asp)	NC_000009.11:g.75403272G>A	VUS	1 lab	188b4b8e4d
5:58286668 PDE4D T>C	5	58286668	58286668	T	C	PDE4D	c.482A>G	NM_001364604.1	NP_001351533.1:p.(Asn161Ser)	NC_000005.9:g.58286668T>C	VUS	1 lab	188cc66e94
12:7842779 GDF3 A>G	12	7842779	7842779	A	G	GDF3	c.790T>C	NM_020634.2	NP_065685.1:p.(Cys264Arg)	NC_000012.11:g.7842779A>G	VUS	1 lab	188dfcf456
17:56356728 MPO T>G	17	56356728	56356728	T	G	MPO	c.608A>C	NM_000250.1	NP_000241.1:p.(Tyr203Ser)	NC_000017.10:g.56356728T>G	VUS	1 lab	18907c46e6
21:47565469 FTCD C>T	21	47565469	47565469	C	T	FTCD	c.1122G>A	NM_001320412.1	NP_001307341.1:p.(Val374=)	NC_000021.8:g.47565469C>T	VUS	1 lab	18913610dd
15:62148606 VPS13C C>T	15	62148606	62148606	C	T	VPS13C	c.10955G>A	NM_020821.2	NP_065872.1:p.(Arg3652Gln)	NC_000015.9:g.62148606C>T	VUS	1 lab	18921a5c4d
22:40807907 MRTFA A>G	22	40807907	40807907	A	G	MRTFA				NC_000022.10:g.40807907A>G	(Likely) benign	1 lab	189277d2a6
11:57427299 CLP1 G>A	11	57427299	57427299	G	A	CLP1	c.351G>A	NM_006831.2	NP_006822.1:p.(Val117=)	NC_000011.9:g.57427299G>A	(Likely) benign	1 lab	1892c4efdf
X:15863647 AP1S2 G>A	X	15863647	15863647	G	A	AP1S2	c.289-8C>T	NM_001272071.1	NP_001259000.1:p.?	NC_000023.10:g.15863647G>A	(Likely) benign	1 lab	1893320a7a
1:59042572 TACSTD2 G>A	1	59042572	59042572	G	A	TACSTD2	c.257C>T	NM_002353.2	NP_002344.2:p.(Ala86Val)	NC_000001.10:g.59042572G>A	(Likely) benign	1 lab	1893e374ff
12:80752485 OTOGL C>T	12	80752485	80752485	C	T	OTOGL	c.6129C>T	NM_173591.3	NP_775862.3:p.(Leu2043=)	NC_000012.11:g.80752485C>T	(Likely) benign	1 lab	189ba4f80b
11:89819779 UBTFL1 C>T	11	89819779	89819779	C	T	UBTFL1	c.662C>T	NM_001143975.1	NP_001137447.1:p.(Pro221Leu)	NC_000011.9:g.89819779C>T	VUS	1 lab	189c7d2bc3
12:1910287 CACNA2D4 G>A	12	1910287	1910287	G	A	CACNA2D4	c.2793-3C>T	NM_172364.4	NP_758952.4:p.?	NC_000012.11:g.1910287G>A	VUS	1 lab	191863930e
2:179401210 TTN C>T	2	179401210	179401210	C	T	TTN	c.100264G>A	NM_001267550.1	NP_001254479.1:p.(Ala33422Thr)	NC_000002.11:g.179401210C>T	VUS	1 lab	189d896822
2:26696404 OTOF C>T	2	26696404	26696404	C	T	OTOF	c.3440G>A	NM_194248.2	NP_919224.1:p.(Arg1147Gln)	NC_000002.11:g.26696404C>T	VUS	1 lab	189d92dadd
9:377040 DOCK8 A>G	9	377040	377040	A	G	DOCK8	c.2269A>G	NM_203447.3	NP_982272.2:p.(Ile757Val)	NC_000009.11:g.377040A>G	(Likely) benign	1 lab	189d9c6ebf
14:91779568 CCDC88C G>A	14	91779568	91779568	G	A	CCDC88C	c.2592C>T	NM_001080414.3	NP_001073883.2:p.(Ala864=)	NC_000014.8:g.91779568G>A	(Likely) benign	1 lab	189e811db5
2:73675386 ALMS1 AG>A	2	73675386	73675391	AG	A	ALMS1	c.1737del	NM_001378454.1	NP_001365383.1:p.(Lys580SerfsTer15)	NC_000002.11:g.73675391del	(Likely) pathogenic	1 lab	189e8968f5
17:40469202 STAT3 T>G	17	40469202	40469202	T	G	STAT3	c.2142A>C	NM_139276.2	NP_644805.1:p.(Thr714=)	NC_000017.10:g.40469202T>G	(Likely) benign	1 lab	189f85b386
14:102493731 DYNC1H1 G>C	14	102493731	102493731	G	C	DYNC1H1	c.8898G>C	NM_001376.4	NP_001367.2:p.(Lys2966Asn)	NC_000014.8:g.102493731G>C	VUS	1 lab	18a0602987
X:53592093 HUWE1 T>C	X	53592093	53592093	T	C	HUWE1	c.6815A>G	NM_031407.6	NP_113584.3:p.(Lys2272Arg)	NC_000023.10:g.53592093T>C	VUS	1 lab	18a1494e9c
22:29121239 CHEK2 T>G	22	29121239	29121239	T	G	CHEK2	c.436A>C	NM_007194.4	NP_009125.1:p.(Ile146Leu)	NC_000022.10:g.29121239T>G	VUS	1 lab	e3f5052268
6:74348142 SLC17A5 T>C	6	74348142	74348142	T	C	SLC17A5	c.606A>G	NM_012434.4	NP_036566.1:p.(Ser202=)	NC_000006.11:g.74348142T>C	(Likely) benign	1 lab	18a44e540f
5:74014795 HEXB C>T	5	74014795	74014795	C	T	HEXB	c.741C>T	NM_001292004.1	NP_001278933.1:p.(Gly247=)	NC_000005.9:g.74014795C>T	(Likely) benign	1 lab	18a46e6f71
12:130921702 RIMBP2 G>A	12	130921702	130921702	G	A	RIMBP2	c.1791C>T	NM_001351230.1	NP_001338159.1:p.(Ala597=)	NC_000012.11:g.130921702G>A	(Likely) benign	1 lab	18a4c8730a
2:170027119 LRP2 C>T	2	170027119	170027119	C	T	LRP2	c.11322G>A	NM_004525.3	NP_004516.2:p.(Ser3774=)	NC_000002.11:g.170027119C>T	(Likely) benign	1 lab	18a5a9a33d
16:1559822 TELO2 G>T	16	1559822	1559822	G	T	TELO2	c.2408-9G>T	NM_016111.3	NP_057195.2:p.?	NC_000016.9:g.1559822G>T	(Likely) benign	1 lab	18a622ffc4
9:13110000 MPDZ G>C	9	13110000	13110000	G	C	MPDZ	c.5806C>G	NM_003829.4	NP_003820.2:p.(Leu1936Val)	NC_000009.11:g.13110000G>C	(Likely) benign	1 lab	18a68977da
16:57697416 ADGRG1 C>T	16	57697416	57697416	C	T	ADGRG1	c.2004C>T	NM_005682.6	NP_005673.3:p.(Gly668=)	NC_000016.9:g.57697416C>T	(Likely) benign	1 lab	18a83e4ea9
2:44010697 DYNC2LI1 A>G	2	44010697	44010697	A	G	DYNC2LI1	c.161+4A>G	NM_001348913.1	NP_001335842.1:p.?	NC_000002.11:g.44010697A>G	VUS	1 lab	18a9495f73
X:135764990 ARHGEF6 C>T	X	135764990	135764990	C	T	ARHGEF6	c.1406G>A	NM_004840.2	NP_004831.1:p.(Arg469Gln)	NC_000023.10:g.135764990C>T	(Likely) benign	1 lab	18aa26ed4a
6:29394949 OR11A1 T>G	6	29394949	29394949	T	G	OR11A1	c.470A>C	NM_013937.3	NP_039225.1:p.(Asp157Ala)	NC_000006.11:g.29394949T>G	(Likely) benign	1 lab	18aa53d559
13:73505382 PIBF1 C>T	13	73505382	73505382	C	T	PIBF1	c.1897C>T	NM_001349655.1	NP_001336584.1:p.(Gln633Ter)	NC_000013.10:g.73505382C>T	(Likely) pathogenic	1 lab	18aa728609
18:67698149 RTTN C>T	18	67698149	67698149	C	T	RTTN	c.5610G>A	NM_173630.3	NP_775901.3:p.(Leu1870=)	NC_000018.9:g.67698149C>T	(Likely) benign	1 lab	18ab173fec
2:45169489 SIX3 G>T	2	45169489	45169489	G	T	SIX3	c.246G>T	NM_005413.3	NP_005404.1:p.(Leu82=)	NC_000002.11:g.45169489G>T	(Likely) benign	1 lab	18add8522f
11:69625345 FGF3 C>T	11	69625345	69625345	C	T	FGF3				NC_000011.9:g.69625345C>T	VUS	1 lab	18b2ec9e1b
1:156104634 LMNA G>A	1	156104634	156104634	G	A	LMNA				NC_000001.10:g.156104634G>A	(Likely) benign	1 lab	18cb4d71f7
19:50123623 PRR12 G>A	19	50123623	50123623	G	A	PRR12	c.5512G>A	NM_020719.3	NP_065770.1:p.(Gly1838Arg)	NC_000019.9:g.50123623G>A	VUS	1 lab	e3f56a1a6c
16:1496647 CLCN7 C>A	16	1496647	1496647	C	A	CLCN7	c.2403G>T	NM_001287.5	NP_001278.1:p.(Ser801=)	NC_000016.9:g.1496647C>A	(Likely) benign	1 lab	18b342e236
2:239237907 TRAF3IP1 G>A	2	239237907	239237907	G	A	TRAF3IP1	c.839G>A	NM_015650.3	NP_056465.2:p.(Arg280Gln)	NC_000002.11:g.239237907G>A	VUS	1 lab	18b35a2d65
16:21279025 CRYM C>A	16	21279025	21279025	C	A	CRYM	c.523G>T	NM_001888.4	NP_001879.1:p.(Glu175Ter)	NC_000016.9:g.21279025C>A	(Likely) benign	1 lab	18b3e1aca3
19:45899469 PPP1R13L G>A	19	45899469	45899469	G	A	PPP1R13L	c.860C>T	NM_006663.4	NP_006654.2:p.(Pro287Leu)	NC_000019.9:g.45899469G>A	VUS	1 lab	18b441325f
15:83544085 HOMER2 G>A	15	83544085	83544085	G	A	HOMER2	c.234C>T	NM_199330.2	NP_955362.1:p.(Ala78=)	NC_000015.9:g.83544085G>A	(Likely) benign	1 lab	18b506505d
15:83518522 HOMER2 A>G	15	83518522	83518522	A	G	HOMER2	c.1010T>C	NM_199330.2	NP_955362.1:p.(Ile337Thr)	NC_000015.9:g.83518522A>G	VUS	1 lab	18b5604137
14:105417274 AHNAK2 A>G	14	105417274	105417274	A	G	AHNAK2	c.4514T>C	NM_138420.3	NP_612429.2:p.(Val1505Ala)	NC_000014.8:g.105417274A>G	(Likely) benign	1 lab	18b59d4a22
12:39726514 KIF21A C>T	12	39726514	39726514	C	T	KIF21A	c.2735G>A	NM_001173464.1	NP_001166935.1:p.(Arg912Gln)	NC_000012.11:g.39726514C>T	VUS	1 lab	18b72aadce
15:43021328 CDAN1 G>C	15	43021328	43021328	G	C	CDAN1	c.2542-4C>G	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43021328G>C	(Likely) benign	1 lab	18bbaa358d
4:79353675 FRAS1 C>T	4	79353675	79353675	C	T	FRAS1	c.5134C>T	NM_025074.7	NP_079350.5:p.(Arg1712Ter)	NC_000004.11:g.79353675C>T	(Likely) pathogenic	1 lab	18bbf58ddf
20:50418964 SALL4 C>T	20	50418964	50418964	C	T	SALL4	c.-17G>A	NM_020436.3	NP_065169.1:p.?	NC_000020.10:g.50418964C>T	(Likely) benign	1 lab	18bc83228b
7:48427520 ABCA13 A>C	7	48427520	48427520	A	C	ABCA13	c.11437A>C	NM_152701.4	NP_689914.3:p.(Ser3813Arg)	NC_000007.13:g.48427520A>C	(Likely) benign	1 lab	18bf53ec73
2:1437238 TPO C>G	2	1437238	1437238	C	G	TPO	c.208C>G	NM_000547.5	NP_000538.3:p.(Pro70Ala)	NC_000002.11:g.1437238C>G	VUS	1 lab	18bf8d26ef
12:111856057 SH2B3 G>C	12	111856057	111856057	G	C	SH2B3	c.108G>C	NM_005475.2	NP_005466.1:p.(Ala36=)	NC_000012.11:g.111856057G>C	(Likely) benign	1 lab	18c20f3df6
21:47860764 PCNT T>C	21	47860764	47860764	T	C	PCNT	c.9394-4T>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47860764T>C	(Likely) benign	1 lab	18c25c7de5
5:176678775 NSD1 C>G	5	176678775	176678775	C	G	NSD1	c.4686C>G	NM_022455.4	NP_071900.2:p.(Cys1562Trp)	NC_000005.9:g.176678775C>G	(Likely) pathogenic	1 lab	18c28e789b
12:57539194 LRP1 G>A	12	57539194	57539194	G	A	LRP1	c.762G>A	NM_002332.2	NP_002323.2:p.(Thr254=)	NC_000012.11:g.57539194G>A	(Likely) benign	1 lab	18c2d6fd16
6:144508132 STX11 CAG>C	6	144508132	144508134	CAG	C	STX11	c.369_370del	NM_003764.4	NP_003755.2:p.(Val124GlyfsTer61)	NC_000006.11:g.144508133_144508134del	(Likely) pathogenic	1 lab	18c45015ed
X:54784229 ITIH6 C>A	X	54784229	54784229	C	A	ITIH6	c.2278G>T	NM_198510.2	NP_940912.1:p.(Val760Phe)	NC_000023.10:g.54784229C>A	(Likely) benign	1 lab	18c63bb272
22:38165298 TRIOBP A>G	22	38165298	38165298	A	G	TRIOBP	c.6765A>G	NM_001039141.2	NP_001034230.1:p.(Ile2255Met)	NC_000022.10:g.38165298A>G	VUS	1 lab	18c76b08c8
17:455184 VPS53 G>A	17	455184	455184	G	A	VPS53	c.1794C>T	NM_001128159.2	NP_001121631.1:p.(Ile598=)	NC_000017.10:g.455184G>A	(Likely) benign	1 lab	18c892e230
16:18414954 MISSING A>C	16	18414954	18414954	A	C	MISSING				NC_000016.9:g.18414954A>C	VUS	1 lab	18c8b76ff0
3:48507959 ATRIP C>G	3	48507959	48507959	C	G	ATRIP	c.*1006C>G	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507959C>G	VUS	1 lab	18c9544676
12:7175822 C1S A>G	12	7175822	7175822	A	G	C1S	c.1258A>G	NM_201442.3	NP_958850.1:p.(Lys420Glu)	NC_000012.11:g.7175822A>G	(Likely) benign	1 lab	18cd07bfe4
19:4207580 ANKRD24 C>T	19	4207580	4207580	C	T	ANKRD24	c.620C>T	NM_133475.1	NP_597732.1:p.(Ala207Val)	NC_000019.9:g.4207580C>T	(Likely) benign	1 lab	18ce526cf9
17:4837171 GP1BA GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA>G	17	4837171	4837248	GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA	G	GP1BA	c.1311_1349del	NM_000173.7	NP_000164.5:p.(Ser441_Thr453del)	NC_000017.10:g.4837210_4837248del	(Likely) benign	1 lab	18cf5daaec
2:163124619 IFIH1 C>T	2	163124619	163124619	C	T	IFIH1	c.2785G>A	NM_022168.4	NP_071451.2:p.(Val929Ile)	NC_000002.11:g.163124619C>T	VUS	1 lab	18d173dfb3
16:2113008 TSC2 T>C	16	2113008	2113008	T	C	TSC2	c.1397T>C	NM_000548.3	NP_000539.2:p.(Leu466Pro)	NC_000016.9:g.2113008T>C	(Likely) pathogenic	1 lab	18d25767cd
10:90701067 ACTA2 G>A	10	90701067	90701067	G	A	ACTA2	c.535C>T	NM_001613.2	NP_001604.1:p.(Arg179Cys)	NC_000010.10:g.90701067G>A	(Likely) pathogenic	1 lab	18d27d2980
6:35466128 TULP1 G>A	6	35466128	35466128	G	A	TULP1	c.1605C>T	NM_003322.5	NP_003313.3:p.(Phe535=)	NC_000006.11:g.35466128G>A	(Likely) benign	1 lab	18d5fb8793
2:179473570 TTN A>T	2	179473570	179473570	A	T	TTN	c.52168T>A	NM_001267550.1	NP_001254479.1:p.(Trp17390Arg)	NC_000002.11:g.179473570A>T	VUS	1 lab	18d61b4ef1
19:42796833 CIC T>C	19	42796833	42796833	T	C	CIC	c.6018T>C	NM_001304815.1	NP_001291744.1:p.(Ser2006=)	NC_000019.9:g.42796833T>C	(Likely) benign	1 lab	18d655e568
X:34961084 FAM47B C>G	X	34961084	34961084	C	G	FAM47B	c.136C>G	NM_152631.2	NP_689844.2:p.(Gln46Glu)	NC_000023.10:g.34961084C>G	(Likely) benign	1 lab	18d8cf5894
5:35867525 IL7R A>C	5	35867525	35867525	A	C	IL7R				NC_000005.9:g.35867525A>C	(Likely) benign	1 lab	18d8f28fb8
4:126355512 FAT4 A>G	4	126355512	126355512	A	G	FAT4	c.7131A>G	NM_001291303.1	NP_001278232.1:p.(Ala2377=)	NC_000004.11:g.126355512A>G	(Likely) benign	1 lab	18d954a9c1
17:18025592 MYO15A C>T	17	18025592	18025592	C	T	MYO15A	c.3478C>T	NM_016239.4	NP_057323.3:p.(Arg1160Trp)	NC_000017.10:g.18025592C>T	VUS	1 lab	e3f8cc2391
20:21686428 PAX1 T>C	20	21686428	21686428	T	C	PAX1	c.78T>C	NM_001257096.1	NP_001244025.1:p.(Pro26=)	NC_000020.10:g.21686428T>C	(Likely) benign	1 lab	18dc8e9e81
X:12734426 FRMPD4 C>A	X	12734426	12734426	C	A	FRMPD4	c.1848C>A	NM_014728.3	NP_055543.2:p.(Ala616=)	NC_000023.10:g.12734426C>A	(Likely) benign	1 lab	18dcae67f0
10:73537483 CDH23 C>T	10	73537483	73537483	C	T	CDH23	c.4892C>T	NM_022124.5	NP_071407.4:p.(Ala1631Val)	NC_000010.10:g.73537483C>T	VUS	1 lab	18dd4cf515
19:57909975 ZNF548 C>T	19	57909975	57909975	C	T	ZNF548	c.356C>T	NM_001172773.2	NP_001166244.1:p.(Pro119Leu)	NC_000019.9:g.57909975C>T	VUS	1 lab	18dfd84905
21:45706533 AIRE G>A	21	45706533	45706533	G	A	AIRE				NC_000021.8:g.45706533G>A	(Likely) benign	1 lab	18e0338dca
20:61950435 COL20A1 C>T	20	61950435	61950435	C	T	COL20A1	c.2689C>T	NM_020882.2	NP_065933.2:p.(Pro897Ser)	NC_000020.10:g.61950435C>T	(Likely) benign	1 lab	18e08ef4c8
6:24843126 RIPOR2 C>T	6	24843126	24843126	C	T	RIPOR2	c.1884G>A	NM_014722.4	NP_055537.2:p.(Leu628=)	NC_000006.11:g.24843126C>T	(Likely) benign	1 lab	18e2fe4921
5:73931471 ENC1 G>A	5	73931471	73931471	G	A	ENC1	c.840C>T	NM_001256574.1	NP_001243503.1:p.(Asp280=)	NC_000005.9:g.73931471G>A	(Likely) benign	1 lab	18e4996645
18:42531984 SETBP1 T>G	18	42531984	42531984	T	G	SETBP1	c.2679T>G	NM_015559.3	NP_056374.2:p.(Ser893=)	NC_000018.9:g.42531984T>G	(Likely) benign	1 lab	18e6304dee
8:38111154 DDHD2 C>T	8	38111154	38111154	C	T	DDHD2	c.1972C>T	NM_015214.2	NP_056029.2:p.(Arg658Cys)	NC_000008.10:g.38111154C>T	VUS	1 lab	18e700ac07
14:23899125 MYH7 G>T	14	23899125	23899125	G	T	MYH7	c.1000-3C>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23899125G>T	VUS	1 lab	18e77adede
1:44387304 ST3GAL3 T>C	1	44387304	44387304	T	C	ST3GAL3	c.949T>C	NM_001350621.1	NP_001337550.1:p.(Cys317Arg)	NC_000001.10:g.44387304T>C	VUS	1 lab	18e8101d31
14:105246444 AKT1 G>A	14	105246444	105246444	G	A	AKT1	c.156C>T	NM_005163.2	NP_005154.2:p.(Leu52=)	NC_000014.8:g.105246444G>A	(Likely) benign	1 lab	18eb1df41a
6:146673642 GRM1 T>C	6	146673642	146673642	T	C	GRM1	c.1433+10T>C	NM_001278065.1	NP_001264994.1:p.?	NC_000006.11:g.146673642T>C	(Likely) benign	1 lab	18ebc0045e
1:235896919 LYST A>G	1	235896919	235896919	A	G	LYST	c.8685T>C	NM_001301365.1	NP_001288294.1:p.(Ser2895=)	NC_000001.10:g.235896919A>G	(Likely) benign	1 lab	18f0b38c65
5:76640738 PDE8B C>T	5	76640738	76640738	C	T	PDE8B	c.486C>T	NM_001349753.1	NP_001336682.1:p.(Ser162=)	NC_000005.9:g.76640738C>T	(Likely) benign	1 lab	18f1b6e07c
1:26392755 TRIM63 C>T	1	26392755	26392755	C	T	TRIM63	c.332+4G>A	NM_032588.3	NP_115977.2:p.?	NC_000001.10:g.26392755C>T	(Likely) benign	1 lab	18f27e0714
16:67690486 CARMIL2 C>T	16	67690486	67690486	C	T	CARMIL2	c.3974C>T	NM_001013838.2	NP_001013860.1:p.(Thr1325Ile)	NC_000016.9:g.67690486C>T	(Likely) benign	1 lab	18f33c3a37
7:82585664 PCLO T>A	7	82585664	82585664	T	A	PCLO	c.4605A>T	NM_033026.5	NP_149015.2:p.(Ser1535=)	NC_000007.13:g.82585664T>A	(Likely) benign	1 lab	18f35584cc
X:18668631 CDKL5 C>G	X	18668631	18668631	C	G	CDKL5	c.2899C>G	NM_003159.2	NP_003150.1:p.(Leu967Val)	NC_000023.10:g.18668631C>G	(Likely) benign	1 lab	18f364b644
6:43017883 CUL7 G>A	6	43017883	43017883	G	A	CUL7	c.1639C>T	NM_001168370.1	NP_001161842.1:p.(Arg547Cys)	NC_000006.11:g.43017883G>A	(Likely) benign	1 lab	18f4359f40
3:170908481 TNIK C>G	3	170908481	170908481	C	G	TNIK	c.508+5G>C	NM_015028.3	NP_055843.1:p.?	NC_000003.11:g.170908481C>G	VUS	1 lab	18f4da699a
19:38572777 SIPA1L3 G>A	19	38572777	38572777	G	A	SIPA1L3	c.572G>A	NM_015073.2	NP_055888.1:p.(Arg191Gln)	NC_000019.9:g.38572777G>A	(Likely) benign	1 lab	18f594d18f
20:31022410 ASXL1 G>A	20	31022410	31022410	G	A	ASXL1	c.1895G>A	NM_015338.6	NP_056153.2:p.(Cys632Tyr)	NC_000020.10:g.31022410G>A	VUS	1 lab	e4012c3f3b
6:51777229 PKHD1 C>T	6	51777229	51777229	C	T	PKHD1	c.6267G>A	NM_138694.3	NP_619639.3:p.(Pro2089=)	NC_000006.11:g.51777229C>T	(Likely) benign	1 lab	18f8d71409
17:78188063 SGSH C>T	17	78188063	78188063	C	T	SGSH	c.571G>A	NM_000199.4	NP_000190.1:p.(Gly191Arg)	NC_000017.10:g.78188063C>T	(Likely) pathogenic	1 lab	18f9a727f9
22:38021862 GGA1 C>G	22	38021862	38021862	C	G	GGA1	c.999C>G	NM_013365.5	NP_037497.1:p.(Thr333=)	NC_000022.10:g.38021862C>G	(Likely) benign	1 lab	18f9af32f7
2:47317516 STPG4 A>T	2	47317516	47317516	A	T	STPG4	c.520-3T>A	NM_001163561.2	NP_001157033.1:p.?	NC_000002.11:g.47317516A>T	(Likely) benign	1 lab	18f9ce673e
12:7084434 EMG1 T>C	12	7084434	7084434	T	C	EMG1	c.515T>C	NM_006331.7	NP_006322.4:p.(Met172Thr)	NC_000012.11:g.7084434T>C	(Likely) benign	1 lab	18fa7ca2c5
4:121706223 PRDM5 G>A	4	121706223	121706223	G	A	PRDM5	c.1212C>T	NM_018699.3	NP_061169.2:p.(Phe404=)	NC_000004.11:g.121706223G>A	(Likely) benign	1 lab	18fc3f4b40
5:13776691 DNAH5 C>T	5	13776691	13776691	C	T	DNAH5	c.9230G>A	NM_001369.2	NP_001360.1:p.(Arg3077Gln)	NC_000005.9:g.13776691C>T	VUS	1 lab	18fcdc9804
7:138546181 KIAA1549 C>T	7	138546181	138546181	C	T	KIAA1549	c.4951G>A	NM_001164665.1	NP_001158137.1:p.(Asp1651Asn)	NC_000007.13:g.138546181C>T	VUS	1 lab	18fdc7c4b9
9:135777975 TSC1 G>A	9	135777975	135777975	G	A	TSC1	c.2391+17C>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135777975G>A	(Likely) benign	1 lab	18ff55f825
6:157100023 ARID1B C>CGGAGGAGGA	6	157100023	157100048	C	CGGAGGAGGA	ARID1B	c.977_985dup	NM_001346813.1	NP_001333742.1:p.(Gly326_Gly328dup)	NC_000006.11:g.157100040_157100048dup	(Likely) benign	1 lab	18ffba283c
16:72142259 DHX38 T>G	16	72142259	72142259	T	G	DHX38	c.3098T>G	NM_014003.3	NP_054722.2:p.(Ile1033Ser)	NC_000016.9:g.72142259T>G	VUS	1 lab	18ffc7f0b3
11:608566 PHRF1 T>C	11	608566	608566	T	C	PHRF1	c.3110T>C	NM_001286581.2	NP_001273510.1:p.(Val1037Ala)	NC_000011.9:g.608566T>C	(Likely) benign	1 lab	19015caad5
15:31354782 TRPM1 G>A	15	31354782	31354782	G	A	TRPM1	c.1140C>T	NM_001252020.1	NP_001238949.1:p.(Leu380=)	NC_000015.9:g.31354782G>A	(Likely) benign	1 lab	19023acfec
20:31368253 DNMT3B C>G	20	31368253	31368253	C	G	DNMT3B	c.124C>G	NM_006892.3	NP_008823.1:p.(Arg42Gly)	NC_000020.10:g.31368253C>G	(Likely) benign	1 lab	1902b57a50
19:38955270 RYR1 C>A	19	38955270	38955270	C	A	RYR1	c.2787-9C>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38955270C>A	(Likely) benign	1 lab	1903691fe5
10:8097781 GATA3 G>A	10	8097781	8097781	G	A	GATA3	c.163G>A	NM_001002295.1	NP_001002295.1:p.(Gly55Ser)	NC_000010.10:g.8097781G>A	VUS	1 lab	190508784d
5:93788702 KIAA0825 C>T	5	93788702	93788702	C	T	KIAA0825	c.2319G>A	NM_001145678.1	NP_001139150.1:p.(Trp773Ter)	NC_000005.9:g.93788702C>T	(Likely) pathogenic	1 lab	19052a2cb0
1:224586704 WDR26 T>C	1	224586704	224586704	T	C	WDR26	c.1452A>G	NM_025160.6	NP_079436.4:p.(Glu484=)	NC_000001.10:g.224586704T>C	(Likely) benign	1 lab	190649601c
4:155226327 DCHS2 C>T	4	155226327	155226327	C	T	DCHS2	c.5317G>A	NM_001358235.1	NP_001345164.1:p.(Glu1773Lys)	NC_000004.11:g.155226327C>T	(Likely) benign	1 lab	19079e7b65
1:186158996 HMCN1 G>A	1	186158996	186158996	G	A	HMCN1	c.16894G>A	NM_031935.2	NP_114141.2:p.(Ala5632Thr)	NC_000001.10:g.186158996G>A	(Likely) benign	1 lab	1907dc2491
16:1412303 GNPTG C>T	16	1412303	1412303	C	T	GNPTG	c.508C>T	NM_032520.4	NP_115909.1:p.(His170Tyr)	NC_000016.9:g.1412303C>T	VUS	1 lab	19092f81f7
17:29496923 NF1 CTG>C	17	29496923	29496926	CTG	C	NF1	c.496_497del	NM_001042492.3	NP_001035957.1:p.(Val166LeufsTer7)	NC_000017.10:g.29496925_29496926del	(Likely) pathogenic	1 lab	190a00ab33
14:51238166 NIN A>T	14	51238166	51238166	A	T	NIN	c.1002T>A	NM_020921.3	NP_065972.3:p.(Asp334Glu)	NC_000014.8:g.51238166A>T	VUS	1 lab	190abbc8da
10:28142219 ODAD2 C>A	10	28142219	28142219	C	A	ODAD2	c.1670G>T	NM_001290021.1	NP_001276950.1:p.(Gly557Val)	NC_000010.10:g.28142219C>A	VUS	1 lab	190ac28b66
17:79502134 FSCN2 C>A	17	79502134	79502134	C	A	FSCN2	c.883C>A	NM_001077182.2	NP_001070650.1:p.(Gln295Lys)	NC_000017.10:g.79502134C>A	VUS	1 lab	190b3a600f
20:62039853 KCNQ2 C>T	20	62039853	62039853	C	T	KCNQ2	c.1800G>A	NM_172107.3	NP_742105.1:p.(Thr600=)	NC_000020.10:g.62039853C>T	(Likely) benign	1 lab	190d2926a8
18:44104740 LOXHD1 C>T	18	44104740	44104740	C	T	LOXHD1	c.4671G>A	NM_144612.6	NP_653213.6:p.(Leu1557=)	NC_000018.9:g.44104740C>T	(Likely) benign	1 lab	190d36d368
6:32181483 NOTCH4 T>C	6	32181483	32181483	T	C	NOTCH4	c.2302A>G	NM_004557.3	NP_004548.3:p.(Thr768Ala)	NC_000006.11:g.32181483T>C	(Likely) benign	1 lab	190f7415d6
11:47862046 NUP160 C>T	11	47862046	47862046	C	T	NUP160	c.409G>A	NM_015231.2	NP_056046.1:p.(Val137Ile)	NC_000011.9:g.47862046C>T	(Likely) benign	1 lab	191140760b
3:58109369 FLNB G>A	3	58109369	58109369	G	A	FLNB	c.3676G>A	NM_001164317.1	NP_001157789.1:p.(Val1226Met)	NC_000003.11:g.58109369G>A	VUS	1 lab	1911ff7d93
22:40859226 MRTFA C>G	22	40859226	40859226	C	G	MRTFA				NC_000022.10:g.40859226C>G	(Likely) benign	1 lab	1912720955
X:24331329 SUPT20HL2 G>A	X	24331329	24331329	G	A	SUPT20HL2	c.182C>T	NM_001136233.2	NP_001129705.2:p.(Thr61Ile)	NC_000023.10:g.24331329G>A	VUS	1 lab	19127398c1
7:103050998 SLC26A5 T>C	7	103050998	103050998	T	C	SLC26A5	c.571-2A>G	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103050998T>C	VUS	1 lab	1913451548
8:31007866 WRN G>T	8	31007866	31007866	G	T	WRN	c.3582G>T	NM_000553.4	NP_000544.2:p.(Thr1194=)	NC_000008.10:g.31007866G>T	(Likely) benign	1 lab	1913c3b0e9
10:17171122 CUBN G>A	10	17171122	17171122	G	A	CUBN	c.250C>T	NM_001081.3	NP_001072.2:p.(Gln84Ter)	NC_000010.10:g.17171122G>A	(Likely) pathogenic	1 lab	1914daf73e
X:106844808 FRMPD3 G>A	X	106844808	106844808	G	A	FRMPD3	c.3638G>A	NM_032428.2	NP_115804.1:p.(Arg1213Gln)	NC_000023.10:g.106844808G>A	(Likely) benign	1 lab	1914f1ed1a
14:76905709 ESRRB G>C	14	76905709	76905709	G	C	ESRRB	c.13G>C	NM_004452.3	NP_004443.3:p.(Asp5His)	NC_000014.8:g.76905709G>C	VUS	1 lab	19153c901b
18:60015427 TNFRSF11A T>C	18	60015427	60015427	T	C	TNFRSF11A	c.102T>C	NM_001278268.1	NP_001265197.1:p.(Cys34=)	NC_000018.9:g.60015427T>C	(Likely) benign	1 lab	1916320b6e
5:55155373 IL31RA A>G	5	55155373	55155373	A	G	IL31RA	c.43A>G	NM_001242638.1	NP_001229567.1:p.(Met15Val)	NC_000005.9:g.55155373A>G	(Likely) benign	1 lab	1916a456c6
9:99064248 HSD17B3 T>C	9	99064248	99064248	T	C	HSD17B3	c.139A>G	NM_000197.2	NP_000188.1:p.(Met47Val)	NC_000009.11:g.99064248T>C	VUS	1 lab	19179ab191
10:67829082 CTNNA3 T>C	10	67829082	67829082	T	C	CTNNA3	c.2143A>G	NM_013266.3	NP_037398.2:p.(Met715Val)	NC_000010.10:g.67829082T>C	VUS	1 lab	192a158393
8:61135222 CA8 T>C	8	61135222	61135222	T	C	CA8	c.724A>G	NM_004056.5	NP_004047.3:p.(Ile242Val)	NC_000008.10:g.61135222T>C	(Likely) benign	1 lab	1917e74f97
17:10427955 MYH2 C>T	17	10427955	10427955	C	T	MYH2	c.5003G>A	NM_001100112.1	NP_001093582.1:p.(Arg1668Gln)	NC_000017.10:g.10427955C>T	VUS	1 lab	19196a3857
16:2546851 TBC1D24 G>A	16	2546851	2546851	G	A	TBC1D24	c.702G>A	NM_001199107.1	NP_001186036.1:p.(Val234=)	NC_000016.9:g.2546851G>A	(Likely) benign	1 lab	1919f36933
3:32030995 ZNF860 G>A	3	32030995	32030995	G	A	ZNF860	c.424G>A	NM_001137674.3	NP_001131146.2:p.(Asp142Asn)	NC_000003.11:g.32030995G>A	VUS	1 lab	e4070f773d
5:90086963 ADGRV1 A>G	5	90086963	90086963	A	G	ADGRV1	c.14317A>G	NM_032119.4	NP_115495.3:p.(Ile4773Val)	NC_000005.9:g.90086963A>G	VUS	1 lab	191ad5fd63
X:13775823 OFD1 C>T	X	13775823	13775823	C	T	OFD1	c.1036C>T	NM_001330210.1	NP_001317139.1:p.(Leu346=)	NC_000023.10:g.13775823C>T	(Likely) benign	1 lab	191baf35d7
20:5283033 PROKR2 G>T	20	5283033	5283033	G	T	PROKR2	c.808C>A	NM_144773.3	NP_658986.1:p.(Arg270Ser)	NC_000020.10:g.5283033G>T	VUS	1 lab	191c502b14
9:36674843 MELK G>A	9	36674843	36674843	G	A	MELK	c.1687G>A	NM_014791.4	NP_055606.1:p.(Val563Met)	NC_000009.11:g.36674843G>A	VUS	1 lab	191db2cd69
2:49003425 STON1-GTF2A1L G>C	2	49003425	49003425	G	C	STON1-GTF2A1L	c.3448G>C	NM_001198593.1	NP_001185522.1:p.(Asp1150His)	NC_000002.11:g.49003425G>C	(Likely) benign	1 lab	191ebcd9ba
19:54307352 NLRP12 G>A	19	54307352	54307352	G	A	NLRP12	c.2442C>T	NM_001277126.1	NP_001264055.1:p.(Ser814=)	NC_000019.9:g.54307352G>A	(Likely) benign	1 lab	191f3ea6ef
6:24532351 ALDH5A1 G>A	6	24532351	24532351	G	A	ALDH5A1	c.1387G>A	NM_170740.1	NP_733936.1:p.(Asp463Asn)	NC_000006.11:g.24532351G>A	VUS	1 lab	191fa61d33
2:186666899 FSIP2 T>C	2	186666899	186666899	T	C	FSIP2	c.12866T>C	NM_173651.3	NP_775922.3:p.(Val4289Ala)	NC_000002.11:g.186666899T>C	VUS	1 lab	19201d5456
X:108708490 GUCY2F G>A	X	108708490	108708490	G	A	GUCY2F	c.913C>T	NM_001522.2	NP_001513.2:p.(Arg305Trp)	NC_000023.10:g.108708490G>A	(Likely) benign	1 lab	19202fcb0f
19:1619208 TCF3 C>A	19	1619208	1619208	C	A	TCF3	c.1352G>T	NM_003200.5	NP_003191.1:p.(Gly451Val)	NC_000019.9:g.1619208C>A	VUS	1 lab	1922e3b591
2:30968588 CAPN13 C>A	2	30968588	30968588	C	A	CAPN13	c.1248+1G>T	NM_144575.3	NP_653176.2:p.?	NC_000002.11:g.30968588C>A	VUS	1 lab	192484ea01
16:87678394 JPH3 C>T	16	87678394	87678394	C	T	JPH3	c.913C>T	NM_020655.3	NP_065706.2:p.(Arg305Cys)	NC_000016.9:g.87678394C>T	VUS	1 lab	1925552935
3:136323183 STAG1 C>G	3	136323183	136323183	C	G	STAG1	c.265G>C	NM_005862.3	NP_005853.2:p.(Glu89Gln)	NC_000003.11:g.136323183C>G	VUS	1 lab	1925ba3f9a
X:91131788 PCDH11X C>A	X	91131788	91131788	C	A	PCDH11X	c.549C>A	NM_032968.4	NP_116750.1:p.(Asn183Lys)	NC_000023.10:g.91131788C>A	VUS	1 lab	19269d2fc2
8:100654103 VPS13B G>A	8	100654103	100654103	G	A	VPS13B	c.5360G>A	NM_017890.4	NP_060360.3:p.(Arg1787His)	NC_000008.10:g.100654103G>A	VUS	1 lab	19278d9bb2
22:38524339 PLA2G6 C>T	22	38524339	38524339	C	T	PLA2G6	c.751G>A	NM_001349867.1	NP_001336796.1:p.(Ala251Thr)	NC_000022.10:g.38524339C>T	VUS	1 lab	192b220d7e
4:26483682 CCKAR T>C	4	26483682	26483682	T	C	CCKAR	c.865A>G	NM_000730.2	NP_000721.1:p.(Ser289Gly)	NC_000004.11:g.26483682T>C	(Likely) benign	1 lab	192d94d7b3
19:6430080 SLC25A41 G>T	19	6430080	6430080	G	T	SLC25A41	c.42C>A	NM_001321298.1	NP_001308227.1:p.(Asn14Lys)	NC_000019.9:g.6430080G>T	VUS	1 lab	192ea56f9c
X:23723962 ACOT9 G>A	X	23723962	23723962	G	A	ACOT9	c.649C>T	NM_001330259.1	NP_001317188.1:p.(Arg217Trp)	NC_000023.10:g.23723962G>A	(Likely) benign	1 lab	192fbacf95
22:26860736 HPS4 C>G	22	26860736	26860736	C	G	HPS4	c.860G>C	NM_022081.5	NP_071364.4:p.(Gly287Ala)	NC_000022.10:g.26860736C>G	(Likely) benign	1 lab	19301d12dd
14:105814891 PACS2 T>G	14	105814891	105814891	T	G	PACS2	c.181T>G	NM_001100913.3	NP_001094383.2:p.(Ser61Ala)	NC_000014.8:g.105814891T>G	(Likely) benign	1 lab	e40affd96a
7:29976288 SCRN1 G>A	7	29976288	29976288	G	A	SCRN1	c.789C>T	NM_001145513.1	NP_001138985.1:p.(Ser263=)	NC_000007.13:g.29976288G>A	(Likely) benign	1 lab	193062817a
22:20785459 SCARF2 G>C	22	20785459	20785459	G	C	SCARF2	c.700C>G	NM_153334.6	NP_699165.3:p.(Arg234Gly)	NC_000022.10:g.20785459G>C	VUS	1 lab	19312ec3aa
17:29654700 NF1 G>T	17	29654700	29654700	G	T	NF1	c.5389G>T	NM_000267.3	NP_000258.1:p.(Glu1797Ter)	NC_000017.10:g.29654700G>T	(Likely) pathogenic	1 lab	1933d04481
16:24580184 RBBP6 C>T	16	24580184	24580184	C	T	RBBP6	c.2173C>T	NM_006910.5	NP_008841.2:p.(Arg725Cys)	NC_000016.9:g.24580184C>T	VUS	1 lab	19355694df
13:110859088 COL4A1 A>ATT	13	110859088	110859091	A	ATT	COL4A1	c.808-28_808-27dup	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110859090_110859091dup	(Likely) benign	1 lab	193730d6f7
X:20174254 RPS6KA3 G>A	X	20174254	20174254	G	A	RPS6KA3	c.2073C>T	NM_004586.2	NP_004577.1:p.(Asn691=)	NC_000023.10:g.20174254G>A	(Likely) benign	1 lab	19381a1f00
16:16259641 ABCC6 A>C	16	16259641	16259641	A	C	ABCC6	c.3145T>G	NM_001171.5	NP_001162.4:p.(Ser1049Ala)	NC_000016.9:g.16259641A>C	VUS	1 lab	193824d141
X:152807034 ATP2B3 G>A	X	152807034	152807034	G	A	ATP2B3	c.406+20G>A	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152807034G>A	(Likely) benign	1 lab	193921120b
4:88536766 DSPP TAGCAGTGAC>T	4	88536766	88536783	TAGCAGTGAC	T	DSPP	c.2961_2969del	NM_014208.3	NP_055023.2:p.(Asp999_Ser1001del)	NC_000004.11:g.88536775_88536783del	VUS	1 lab	193a1f6f3f
7:147675054 CNTNAP2 G>T	7	147675054	147675054	G	T	CNTNAP2	c.2356G>T	NM_014141.5	NP_054860.1:p.(Val786Leu)	NC_000007.13:g.147675054G>T	VUS	1 lab	193a8d6203
5:80064704 MSH3 T>C	5	80064704	80064704	T	C	MSH3	c.2135T>C	NM_002439.5	NP_002430.3:p.(Ile712Thr)	NC_000005.9:g.80064704T>C	VUS	1 lab	e40e52ff5c
16:30762916 PHKG2 G>T	16	30762916	30762916	G	T	PHKG2	c.318G>T	NM_000294.2	NP_000285.1:p.(Val106=)	NC_000016.9:g.30762916G>T	(Likely) benign	1 lab	193bc95b2b
4:190883049 FRG1 T>G	4	190883049	190883049	T	G	FRG1	c.702T>G	NM_004477.3	NP_004468.1:p.(Ala234=)	NC_000004.11:g.190883049T>G	(Likely) benign	1 lab	e4155f99c5
3:113866344 DRD3 C>T	3	113866344	113866344	C	T	DRD3	c.444G>A	NM_000796.5	NP_000787.2:p.(Arg148=)	NC_000003.11:g.113866344C>T	(Likely) benign	1 lab	193d097342
12:53071441 KRT1 T>C	12	53071441	53071441	T	C	KRT1	c.956A>G	NM_006121.4	NP_006112.3:p.(Tyr319Cys)	NC_000012.11:g.53071441T>C	VUS	1 lab	e4162f38a2
6:152555009 SYNE1 G>A	6	152555009	152555009	G	A	SYNE1	c.20619C>T	NM_182961.3	NP_892006.3:p.(Asp6873=)	NC_000006.11:g.152555009G>A	(Likely) benign	1 lab	193faeec4a
X:1407423 CSF2RA C>T	X	1407423	1407423	C	T	CSF2RA	c.231C>T	NM_001161529.1	NP_001155001.1:p.(Asn77=)	NC_000023.10:g.1407423C>T	(Likely) benign	1 lab	193ff9a094
7:151878355 KMT2C T>C	7	151878355	151878355	T	C	KMT2C	c.6590A>G	NM_170606.3	NP_733751.2:p.(Gln2197Arg)	NC_000007.13:g.151878355T>C	VUS	1 lab	e419529c10
17:6526218 KIAA0753 A>G	17	6526218	6526218	A	G	KIAA0753	c.191T>C	NM_001351225.1	NP_001338154.1:p.(Ile64Thr)	NC_000017.10:g.6526218A>G	VUS	1 lab	1944981dfe
3:4744600 ITPR1 C>T	3	4744600	4744600	C	T	ITPR1	c.4596C>T	NM_001099952.2	NP_001093422.2:p.(Ser1532=)	NC_000003.11:g.4744600C>T	(Likely) benign	1 lab	1945179c7e
3:45559561 LARS2 T>C	3	45559561	45559561	T	C	LARS2	c.2211T>C	NM_015340.4	NP_056155.1:p.(Ser737=)	NC_000003.11:g.45559561T>C	(Likely) benign	1 lab	1945a72e71
16:67208681 NOL3 G>GGAGCCA	16	67208681	67208697	G	GGAGCCA	NOL3	c.464_469dup	NM_001276312.1	NP_001263241.1:p.(Pro155_Glu156dup)	NC_000016.9:g.67208692_67208697dup	VUS	1 lab	194612a28c
X:118783907 SEPTIN6 G>T	X	118783907	118783907	G	T	SEPTIN6	c.683C>A	NM_145799.3	NP_665798.1:p.(Thr228Asn)	NC_000023.10:g.118783907G>T	(Likely) benign	1 lab	194890c7bd
7:97870402 TECPR1 A>T	7	97870402	97870402	A	T	TECPR1	c.812T>A	NM_015395.2	NP_056210.1:p.(Ile271Asn)	NC_000007.13:g.97870402A>T	VUS	1 lab	194b360a8f
4:79343132 FRAS1 G>A	4	79343132	79343132	G	A	FRAS1	c.4656G>A	NM_025074.7	NP_079350.5:p.(Glu1552=)	NC_000004.11:g.79343132G>A	(Likely) benign	1 lab	194cfa5466
22:51021173 CHKB G>A	22	51021173	51021173	G	A	CHKB	c.38C>T	NM_005198.4	NP_005189.2:p.(Ala13Val)	NC_000022.10:g.51021173G>A	(Likely) benign	1 lab	194d401496
1:226253499 H3F3A G>C	1	226253499	226253499	G	C	H3F3A				NC_000001.10:g.226253499G>C	VUS	1 lab	194e25024c
14:74706506 VSX2 C>T	14	74706506	74706506	C	T	VSX2	c.242C>T	NM_182894.2	NP_878314.1:p.(Pro81Leu)	NC_000014.8:g.74706506C>T	(Likely) benign	1 lab	194eaae753
15:87089260 AGBL1 C>G	15	87089260	87089260	C	G	AGBL1	c.2713C>G	NM_152336.3	NP_689549.3:p.(Gln905Glu)	NC_000015.9:g.87089260C>G	VUS	1 lab	19501cdad9
9:79954666 VPS13A G>T	9	79954666	79954666	G	T	VPS13A	c.6613G>T	NM_033305.2	NP_150648.2:p.(Gly2205Cys)	NC_000009.11:g.79954666G>T	VUS	1 lab	195021d920
19:57133619 ZNF71 G>A	19	57133619	57133619	G	A	ZNF71	c.964G>A	NM_021216.4	NP_067039.1:p.(Gly322Ser)	NC_000019.9:g.57133619G>A	VUS	1 lab	1951e39571
X:84586013 POF1B G>A	X	84586013	84586013	G	A	POF1B	c.796C>T	NM_024921.3	NP_079197.3:p.(Arg266Cys)	NC_000023.10:g.84586013G>A	VUS	1 lab	1951f79e87
1:100681538 DBT C>T	1	100681538	100681538	C	T	DBT	c.772+1G>A	NM_001918.3	NP_001909.3:p.?	NC_000001.10:g.100681538C>T	(Likely) pathogenic	1 lab	195331e706
X:69478818 P2RY4 G>C	X	69478818	69478818	G	C	P2RY4	c.657C>G	NM_002565.3	NP_002556.1:p.(Cys219Trp)	NC_000023.10:g.69478818G>C	VUS	1 lab	19537b50a7
3:129290062 PLXND1 TGAA>T	3	129290062	129290069	TGAA	T	PLXND1	c.3418_3420del	NM_015103.3	NP_055918.3:p.(Phe1140del)	NC_000003.11:g.129290067_129290069del	VUS	1 lab	19539aa12f
5:150947704 FAT2 T>C	5	150947704	150947704	T	C	FAT2	c.789A>G	NM_001447.2	NP_001438.1:p.(Pro263=)	NC_000005.9:g.150947704T>C	(Likely) benign	1 lab	19542d8ffb
X:149639544 MAMLD1 C>T	X	149639544	149639544	C	T	MAMLD1	c.1699C>T	NM_005491.4	NP_005482.2:p.(Pro567Ser)	NC_000023.10:g.149639544C>T	(Likely) benign	1 lab	19545e2010
X:49083424 CACNA1F C>A	X	49083424	49083424	C	A	CACNA1F	c.1284G>T	NM_005183.3	NP_005174.2:p.(Met428Ile)	NC_000023.10:g.49083424C>A	(Likely) benign	1 lab	1955aedc74
16:84199566 DNAAF1 G>T	16	84199566	84199566	G	T	DNAAF1	c.285G>T	NM_001318756.1	NP_001305685.1:p.(Ser95=)	NC_000016.9:g.84199566G>T	(Likely) benign	1 lab	19590ab78b
4:1087338 RNF212 C>T	4	1087338	1087338	C	T	RNF212	c.711G>A	NM_001193318.3	NP_001180247.1:p.(Gly237=)	NC_000004.11:g.1087338C>T	(Likely) benign	1 lab	e41a806a05
2:86509293 REEP1 A>G	2	86509293	86509293	A	G	REEP1	c.105T>C	NM_022912.2	NP_075063.1:p.(Tyr35=)	NC_000002.11:g.86509293A>G	(Likely) benign	1 lab	1959d522aa
X:47058257 UBA1 C>T	X	47058257	47058257	C	T	UBA1	c.56C>T	NM_003334.4	NP_003325.2:p.(Pro19Leu)	NC_000023.10:g.47058257C>T	VUS	1 lab	e41ab4968c
X:9656179 TBL1X T>TGCG	X	9656179	9656196	T	TGCG	TBL1X	c.495_497dup	NM_005647.3	NP_005638.1:p.(Ala168dup)	NC_000023.10:g.9656194_9656196dup	VUS	1 lab	195b5def70
8:77895523 PEX2 C>T	8	77895523	77895523	C	T	PEX2	c.892G>A	NM_001172086.1	NP_001165557.1:p.(Glu298Lys)	NC_000008.10:g.77895523C>T	VUS	1 lab	195bb90dad
11:108186786 ATM A>G	11	108186786	108186786	A	G	ATM	c.6144A>G	NM_000051.3	NP_000042.3:p.(Thr2048=)	NC_000011.9:g.108186786A>G	VUS	1 lab	195bd41b0a
16:31193927 FUS C>T	16	31193927	31193927	C	T	FUS	c.132C>T	NM_004960.3	NP_004951.1:p.(Ser44=)	NC_000016.9:g.31193927C>T	(Likely) benign	1 lab	195c019a50
5:112174784 APC AAATAT>A	5	112174784	112174792	AAATAT	A	APC	c.3497_3501del	NM_000038.6	NP_000029.2:p.(Tyr1166Ter)	NC_000005.9:g.112174788_112174792del	(Likely) pathogenic	1 lab	195d662105
8:68062102 CSPP1 T>C	8	68062102	68062102	T	C	CSPP1	c.2045T>C	NM_024790.6	NP_079066.5:p.(Val682Ala)	NC_000008.10:g.68062102T>C	VUS	1 lab	195d773975
14:71572004 PCNX1 T>G	14	71572004	71572004	T	G	PCNX1	c.6148T>G	NM_014982.2	NP_055797.2:p.(Ser2050Ala)	NC_000014.8:g.71572004T>G	VUS	1 lab	195f8c0025
6:33288254 DAXX T>C	6	33288254	33288254	T	C	DAXX	c.1154A>G	NM_001350.4	NP_001341.1:p.(Lys385Arg)	NC_000006.11:g.33288254T>C	(Likely) benign	1 lab	1960efd396
6:152668337 SYNE1 G>T	6	152668337	152668337	G	T	SYNE1	c.11935C>A	NM_182961.3	NP_892006.3:p.(Arg3979Ser)	NC_000006.11:g.152668337G>T	VUS	1 lab	196162bc4d
X:73751426 SLC16A2 C>A	X	73751426	73751426	C	A	SLC16A2	c.*38C>A	NM_006517.4	NP_006508.2:p.?	NC_000023.10:g.73751426C>A	VUS	1 lab	1961ce7ec8
10:31812962 ZEB1 T>C	10	31812962	31812962	T	C	ZEB1	c.2049T>C	NM_001323638.1	NP_001310567.1:p.(Asn683=)	NC_000010.10:g.31812962T>C	(Likely) benign	1 lab	1962158eaf
20:5958544 MCM8 G>T	20	5958544	5958544	G	T	MCM8	c.1538G>T	NM_001281521.1	NP_001268450.1:p.(Arg513Leu)	NC_000020.10:g.5958544G>T	VUS	1 lab	1962a793c9
X:48123352 SSX1 G>T	X	48123352	48123352	G	T	SSX1	c.466G>T	NM_001278691.1	NP_001265620.1:p.(Gly156Ter)	NC_000023.10:g.48123352G>T	VUS	1 lab	196347d67a
6:169051441 SMOC2 G>A	6	169051441	169051441	G	A	SMOC2	c.1021G>A	NM_022138.2	NP_071421.1:p.(Asp341Asn)	NC_000006.11:g.169051441G>A	VUS	1 lab	1966df7652
11:61897367 INCENP G>A	11	61897367	61897367	G	A	INCENP	c.368G>A	NM_001040694.2	NP_001035784.1:p.(Arg123His)	NC_000011.9:g.61897367G>A	VUS	1 lab	19670b5a48
12:96389656 HAL T>C	12	96389656	96389656	T	C	HAL	c.33A>G	NM_002108.3	NP_002099.1:p.(Glu11=)	NC_000012.11:g.96389656T>C	(Likely) benign	1 lab	196773877e
11:100998501 PGR G>C	11	100998501	100998501	G	C	PGR	c.1301C>G	NM_000926.4	NP_000917.3:p.(Pro434Arg)	NC_000011.9:g.100998501G>C	VUS	1 lab	19679fc898
11:108121804 ATM G>A	11	108121804	108121804	G	A	ATM	c.1607+5G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108121804G>A	VUS	1 lab	19680fd1d1
5:94861345 SKIC3 CA>C	5	94861345	94861349	CA	C	SKIC3	c.1166del	NM_014639.4	NP_055454.1:p.(Leu389TrpfsTer31)	NC_000005.9:g.94861349del	(Likely) pathogenic	1 lab	19689cb403
5:150930324 FAT2 G>T	5	150930324	150930324	G	T	FAT2	c.4405C>A	NM_001447.2	NP_001438.1:p.(Arg1469=)	NC_000005.9:g.150930324G>T	(Likely) benign	1 lab	1968ce89a6
2:240036897 HDAC4 C>T	2	240036897	240036897	C	T	HDAC4	c.1628G>A	NM_006037.4	NP_006028.2:p.(Arg543Gln)	NC_000002.11:g.240036897C>T	(Likely) benign	1 lab	e42107d6d2
16:29756070 C16orf54 C>T	16	29756070	29756070	C	T	C16orf54	c.203G>A	NM_175900.4	NP_787096.2:p.(Arg68His)	NC_000016.9:g.29756070C>T	(Likely) benign	1 lab	196b078b13
18:60036629 TNFRSF11A C>T	18	60036629	60036629	C	T	TNFRSF11A	c.1437C>T	NM_001278268.1	NP_001265197.1:p.(Pro479=)	NC_000018.9:g.60036629C>T	(Likely) benign	1 lab	196f684b5d
1:42046899 HIVEP3 C>G	1	42046899	42046899	C	G	HIVEP3	c.3570G>C	NM_024503.4	NP_078779.2:p.(Pro1190=)	NC_000001.10:g.42046899C>G	(Likely) benign	1 lab	196fd4d8ed
14:45693660 MIS18BP1 G>GT	14	45693660	45693665	G	GT	MIS18BP1	c.2129dup	NM_018353.5	NP_060823.3:p.(Asn710LysfsTer7)	NC_000014.8:g.45693665dup	VUS	1 lab	197198b6cb
14:51239074 NIN C>G	14	51239074	51239074	C	G	NIN	c.926G>C	NM_020921.3	NP_065972.3:p.(Arg309Thr)	NC_000014.8:g.51239074C>G	(Likely) benign	1 lab	197285bb61
14:105415776 AHNAK2 C>G	14	105415776	105415776	C	G	AHNAK2	c.6012G>C	NM_138420.3	NP_612429.2:p.(Gly2004=)	NC_000014.8:g.105415776C>G	(Likely) benign	1 lab	1972f155cf
1:85488003 MCOLN3 G>A	1	85488003	85488003	G	A	MCOLN3	c.1176C>T	NM_018298.11	NP_060768.8:p.(Leu392=)	NC_000001.10:g.85488003G>A	(Likely) benign	1 lab	1974f9b73e
3:197670782 DRC9 G>A	3	197670782	197670782	G	A	DRC9	c.149C>T	NM_001323027.1	NP_001309956.1:p.(Pro50Leu)	NC_000003.11:g.197670782G>A	(Likely) benign	1 lab	1975aa2c0e
4:122872662 TRPC3 C>A	4	122872662	122872662	C	A	TRPC3				NC_000004.11:g.122872662C>A	(Likely) benign	1 lab	1976871b2d
X:128696629 OCRL C>T	X	128696629	128696629	C	T	OCRL	c.1113C>T	NM_001318784.1	NP_001305713.1:p.(Cys371=)	NC_000023.10:g.128696629C>T	(Likely) benign	1 lab	19772b1660
8:145639741 SLC39A4 C>T	8	145639741	145639741	C	T	SLC39A4	c.979G>A	NM_017767.2	NP_060237.2:p.(Gly327Ser)	NC_000008.10:g.145639741C>T	(Likely) benign	1 lab	1978222355
19:9074805 MUC16 C>T	19	9074805	9074805	C	T	MUC16	c.12641G>A	NM_024690.2	NP_078966.2:p.(Gly4214Asp)	NC_000019.9:g.9074805C>T	(Likely) benign	1 lab	19798aa38a
19:36227707 KMT2B G>A	19	36227707	36227707	G	A	KMT2B	c.7276G>A	NM_014727.2	NP_055542.1:p.(Val2426Ile)	NC_000019.9:g.36227707G>A	VUS	1 lab	197b1a6f7d
6:155054674 SCAF8 G>C	6	155054674	155054674	G	C	SCAF8	c.118G>C	NM_001286188.1	NP_001273117.1:p.(Glu40Gln)	NC_000006.11:g.155054674G>C	VUS	1 lab	197ed431d5
8:105235970 RIMS2 G>A	8	105235970	105235970	G	A	RIMS2	c.91G>A	NM_001282882.1	NP_001269811.1:p.(Ala31Thr)	NC_000008.10:g.105235970G>A	VUS	1 lab	197ffa6e38
X:48762689 SLC35A2 C>T	X	48762689	48762689	C	T	SLC35A2	c.581G>A	NM_001282651.1	NP_001269580.1:p.(Arg194Gln)	NC_000023.10:g.48762689C>T	VUS	1 lab	198182bc6d
1:43805099 MPL G>T	1	43805099	43805099	G	T	MPL	c.549G>T	NM_005373.2	NP_005364.1:p.(Thr183=)	NC_000001.10:g.43805099G>T	(Likely) benign	1 lab	19820dee79
11:6524126 DNHD1 A>G	11	6524126	6524126	A	G	DNHD1	c.890A>G	NM_144666.2	NP_653267.2:p.(Tyr297Cys)	NC_000011.9:g.6524126A>G	(Likely) benign	1 lab	19842c5d62
1:152282187 FLG G>A	1	152282187	152282187	G	A	FLG	c.5175C>T	NM_002016.1	NP_002007.1:p.(His1725=)	NC_000001.10:g.152282187G>A	(Likely) benign	1 lab	1984b883ad
16:77468362 ADAMTS18 G>C	16	77468362	77468362	G	C	ADAMTS18	c.131C>G	NM_199355.3	NP_955387.1:p.(Ala44Gly)	NC_000016.9:g.77468362G>C	(Likely) benign	1 lab	198515a589
9:123249744 CDK5RAP2 A>C	9	123249744	123249744	A	C	CDK5RAP2	c.1483-29T>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123249744A>C	(Likely) benign	1 lab	19857de79f
X:150348563 GPR50 G>A	X	150348563	150348563	G	A	GPR50	c.508G>A	NM_004224.3	NP_004215.2:p.(Glu170Lys)	NC_000023.10:g.150348563G>A	(Likely) benign	1 lab	1986966f5f
X:29973756 IL1RAPL1 C>G	X	29973756	29973756	C	G	IL1RAPL1	c.1910C>G	NM_014271.3	NP_055086.1:p.(Thr637Ser)	NC_000023.10:g.29973756C>G	VUS	1 lab	1987c6147d
12:54107910 CALCOCO1 C>A	12	54107910	54107910	C	A	CALCOCO1	c.1591+7G>T	NM_020898.3	NP_065949.1:p.?	NC_000012.11:g.54107910C>A	(Likely) benign	1 lab	1989dfbbda
16:57694717 ADGRG1 G>A	16	57694717	57694717	G	A	ADGRG1	c.1593G>A	NM_001145772.2	NP_001139244.1:p.(Val531=)	NC_000016.9:g.57694717G>A	(Likely) benign	1 lab	1989f38111
16:88787652 PIEZO1 G>A	16	88787652	88787652	G	A	PIEZO1	c.5590C>T	NM_001142864.4	NP_001136336.2:p.(Arg1864Cys)	NC_000016.9:g.88787652G>A	(Likely) benign	1 lab	198d82304d
19:1221327 STK11 GACCT>G	19	1221327	1221331	GACCT	G	STK11	c.851_854del	NM_000455.5	NP_000446.1:p.(Asp284GlyfsTer2)	NC_000019.9:g.1221328_1221331del	(Likely) pathogenic	1 lab	198e11b07a
2:74593753 DCTN1 T>C	2	74593753	74593753	T	C	DCTN1	c.2467-6A>G	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74593753T>C	(Likely) benign	1 lab	1991d05b3f
12:15803768 EPS8 A>G	12	15803768	15803768	A	G	EPS8	c.1423T>C	NM_004447.5	NP_004438.3:p.(Leu475=)	NC_000012.11:g.15803768A>G	(Likely) benign	1 lab	1991dbf4a7
10:105795040 COL17A1 G>A	10	105795040	105795040	G	A	COL17A1	c.3600C>T	NM_000494.4	NP_000485.3:p.(Asp1200=)	NC_000010.10:g.105795040G>A	(Likely) benign	1 lab	1995488940
6:76542579 MYO6 A>G	6	76542579	76542579	A	G	MYO6	c.412A>G	NM_004999.3	NP_004990.3:p.(Met138Val)	NC_000006.11:g.76542579A>G	VUS	1 lab	199591c22d
13:32914759 BRCA2 GCA>C	13	32914759	32914761	GCA	C	BRCA2	c.6267_6269delinsC	NM_000059.3	NP_000050.2:p.(Glu2089AspfsTer2)	NC_000013.10:g.32914759_32914761delinsC	(Likely) pathogenic	1 lab	1995bbad78
9:2643960 VLDLR G>A	9	2643960	2643960	G	A	VLDLR	c.1066+1G>A	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2643960G>A	VUS	1 lab	19968bc1e2
19:1796996 ATP8B3 A>T	19	1796996	1796996	A	T	ATP8B3	c.1561T>A	NM_138813.3	NP_620168.1:p.(Ser521Thr)	NC_000019.9:g.1796996A>T	(Likely) benign	1 lab	19988feb94
16:3779621 CREBBP T>C	16	3779621	3779621	T	C	CREBBP	c.5427A>G	NM_004380.2	NP_004371.2:p.(Lys1809=)	NC_000016.9:g.3779621T>C	(Likely) benign	1 lab	199916d703
1:7723693 CAMTA1 C>T	1	7723693	7723693	C	T	CAMTA1	c.1086C>T	NM_015215.3	NP_056030.1:p.(Ile362=)	NC_000001.10:g.7723693C>T	(Likely) benign	1 lab	19997f4dbb
6:70926762 COL9A1 A>G	6	70926762	70926762	A	G	COL9A1	c.2604T>C	NM_001851.4	NP_001842.3:p.(Tyr868=)	NC_000006.11:g.70926762A>G	(Likely) benign	1 lab	199b73c50f
12:6438479 TNFRSF1A C>T	12	6438479	6438479	C	T	TNFRSF1A	c.908G>A	NM_001346092.1	NP_001333021.1:p.(Ter303=)	NC_000012.11:g.6438479C>T	(Likely) benign	1 lab	199e0e5ca7
2:86265864 POLR1A C>T	2	86265864	86265864	C	T	POLR1A	c.3993G>A	NM_015425.5	NP_056240.2:p.(Lys1331=)	NC_000002.11:g.86265864C>T	(Likely) benign	1 lab	199e0e6549
9:35713007 TLN1 C>T	9	35713007	35713007	C	T	TLN1	c.3386G>A	NM_006289.4	NP_006280.3:p.(Arg1129Gln)	NC_000009.11:g.35713007C>T	(Likely) benign	1 lab	199f54efdd
10:13708110 FRMD4A C>T	10	13708110	13708110	C	T	FRMD4A	c.1590G>A	NM_018027.4	NP_060497.3:p.(Ser530=)	NC_000010.10:g.13708110C>T	(Likely) benign	1 lab	19a28ca60a
2:179587779 TTN TA>T	2	179587779	179587780	TA	T	TTN	c.21954del	NM_001267550.2	NP_001254479.2:p.(Thr7319HisfsTer2)	NC_000002.11:g.179587780del	VUS	1 lab	e42c8462f6
20:45357878 SLC2A10 A>G	20	45357878	45357878	A	G	SLC2A10	c.1412-114A>G	NM_030777.3	NP_110404.1:p.?	NC_000020.10:g.45357878A>G	(Likely) benign	1 lab	19a35ca50b
5:36671140 SLC1A3 C>T	5	36671140	36671140	C	T	SLC1A3	c.329C>T	NM_004172.4	NP_004163.3:p.(Ala110Val)	NC_000005.9:g.36671140C>T	VUS	1 lab	19a3eb6468
8:87679192 CNGB3 G>T	8	87679192	87679192	G	T	CNGB3	c.813C>A	NM_019098.4	NP_061971.3:p.(Ile271=)	NC_000008.10:g.87679192G>T	(Likely) benign	1 lab	19a416c647
8:144994818 PLEC C>A	8	144994818	144994818	C	A	PLEC	c.9582G>T	NM_201380.3	NP_958782.1:p.(Leu3194=)	NC_000008.10:g.144994818C>A	(Likely) benign	1 lab	19a72f7215
3:15686802 BTD G>A	3	15686802	15686802	G	A	BTD	c.1439G>A	NM_000060.4	NP_000051.1:p.(Gly480Glu)	NC_000003.11:g.15686802G>A	(Likely) benign	1 lab	19ac8cbd6b
X:78216854 P2RY10 T>G	X	78216854	78216854	T	G	P2RY10	c.837T>G	NM_001324218.1	NP_001311147.1:p.(Val279=)	NC_000023.10:g.78216854T>G	(Likely) benign	1 lab	19ad17496d
2:63631424 WDPCP T>C	2	63631424	63631424	T	C	WDPCP	c.1194A>G	NM_015910.6	NP_056994.3:p.(Gln398=)	NC_000002.11:g.63631424T>C	(Likely) benign	1 lab	19ae49928b
X:48399752 TBC1D25 G>A	X	48399752	48399752	G	A	TBC1D25	c.203G>A	NM_001348262.1	NP_001335191.1:p.(Arg68His)	NC_000023.10:g.48399752G>A	VUS	1 lab	19aee809e0
1:152284996 FLG C>A	1	152284996	152284996	C	A	FLG	c.2366G>T	NM_002016.1	NP_002007.1:p.(Arg789Leu)	NC_000001.10:g.152284996C>A	(Likely) benign	1 lab	19af979d92
10:12155062 DHTKD1 C>T	10	12155062	12155062	C	T	DHTKD1	c.2318C>T	NM_018706.6	NP_061176.3:p.(Pro773Leu)	NC_000010.10:g.12155062C>T	VUS	1 lab	19afef3ac7
16:2136710 TSC2 C>T	16	2136710	2136710	C	T	TSC2	c.4850-23C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136710C>T	(Likely) benign	1 lab	19b130f863
17:78172368 CARD14 G>A	17	78172368	78172368	G	A	CARD14	c.1829G>A	NM_024110.4	NP_077015.2:p.(Arg610His)	NC_000017.10:g.78172368G>A	VUS	1 lab	19b1b7361b
4:122782700 BBS7 G>C	4	122782700	122782700	G	C	BBS7	c.300C>G	NM_176824.2	NP_789794.1:p.(Phe100Leu)	NC_000004.11:g.122782700G>C	VUS	1 lab	19b1b81f6f
11:65635817 EFEMP2 C>T	11	65635817	65635817	C	T	EFEMP2	c.923G>A	NM_016938.4	NP_058634.4:p.(Arg308His)	NC_000011.9:g.65635817C>T	VUS	1 lab	19ab1fbc7a
1:65877077 DNAJC6 A>G	1	65877077	65877077	A	G	DNAJC6	c.2779A>G	NM_001256864.2	NP_001243793.1:p.(Arg927Gly)	NC_000001.10:g.65877077A>G	(Likely) pathogenic	1 lab	e42fd222c1
19:1058884 ABCA7 G>A	19	1058884	1058884	G	A	ABCA7	c.5345G>A	NM_019112.3	NP_061985.2:p.(Arg1782Gln)	NC_000019.9:g.1058884G>A	VUS	1 lab	19b37f7e09
1:113460310 SLC16A1 G>C	1	113460310	113460310	G	C	SLC16A1	c.718C>G	NM_001166496.1	NP_001159968.1:p.(Gln240Glu)	NC_000001.10:g.113460310G>C	(Likely) benign	1 lab	19b3b839da
13:24823854 SPATA13 T>G	13	24823854	24823854	T	G	SPATA13	c.2079T>G	NM_001286792.1	NP_001273721.1:p.(Pro693=)	NC_000013.10:g.24823854T>G	(Likely) benign	1 lab	19b423babd
14:63246461 KCNH5 G>C	14	63246461	63246461	G	C	KCNH5	c.2004C>G	NM_139318.5	NP_647479.2:p.(Cys668Trp)	NC_000014.8:g.63246461G>C	VUS	1 lab	e43380a916
3:195512310 MUC4 G>C	3	195512310	195512310	G	C	MUC4	c.6141C>G	NM_018406.6	NP_060876.5:p.(Thr2047=)	NC_000003.11:g.195512310G>C	(Likely) benign	1 lab	19b4c707b8
17:1576786 PRPF8 G>A	17	1576786	1576786	G	A	PRPF8	c.3522C>T	NM_006445.3	NP_006436.3:p.(Phe1174=)	NC_000017.10:g.1576786G>A	(Likely) benign	1 lab	19b5bf6e8d
15:41687133 NDUFAF1 T>C	15	41687133	41687133	T	C	NDUFAF1	c.683A>G	NM_016013.3	NP_057097.2:p.(Asp228Gly)	NC_000015.9:g.41687133T>C	VUS	1 lab	19b662d8b9
2:219206816 PNKD A>G	2	219206816	219206816	A	G	PNKD	c.730A>G	NM_015488.4	NP_056303.3:p.(Lys244Glu)	NC_000002.11:g.219206816A>G	(Likely) benign	1 lab	19b85134e2
16:50756553 NOD2 G>C	16	50756553	50756553	G	C	NOD2	c.2735G>C	NM_022162.1	NP_071445.1:p.(Gly912Ala)	NC_000016.9:g.50756553G>C	VUS	1 lab	19b983193c
16:88498087 ZNF469 A>G	16	88498087	88498087	A	G	ZNF469				NC_000016.9:g.88498087A>G	(Likely) benign	1 lab	1aa9549cae
7:143882739 CTAGE4 A>C	7	143882739	143882739	A	C	CTAGE4	c.2143A>C	NM_198495.2	NP_940897.2:p.(Met715Leu)	NC_000007.13:g.143882739A>C	(Likely) benign	1 lab	19b9af3bb1
2:27703976 IFT172 C>T	2	27703976	27703976	C	T	IFT172	c.722G>A	NM_015662.2	NP_056477.1:p.(Arg241Gln)	NC_000002.11:g.27703976C>T	VUS	1 lab	19baaac0d8
2:29416615 ALK G>A	2	29416615	29416615	G	A	ALK				NC_000002.11:g.29416615G>A	(Likely) benign	1 lab	1b22e3de27
5:138629702 MATR3 T>G	5	138629702	138629702	T	G	MATR3	c.33T>G	NM_001194956.1	NP_001181885.1:p.(Pro11=)	NC_000005.9:g.138629702T>G	(Likely) benign	1 lab	19bb8e5e92
20:2375261 TGM6 G>A	20	2375261	2375261	G	A	TGM6	c.171G>A	NM_198994.2	NP_945345.2:p.(Thr57=)	NC_000020.10:g.2375261G>A	(Likely) benign	1 lab	19bbd73c3f
X:43603149 MAOA G>A	X	43603149	43603149	G	A	MAOA	c.972G>A	NM_001270458.1	NP_001257387.1:p.(Arg324=)	NC_000023.10:g.43603149G>A	(Likely) benign	1 lab	19bc95e75b
12:1920853 CACNA2D4 C>T	12	1920853	1920853	C	T	CACNA2D4	c.2588G>A	NM_172364.4	NP_758952.4:p.(Arg863His)	NC_000012.11:g.1920853C>T	(Likely) benign	1 lab	19bcf10307
17:29549307 NF1 AG>A	17	29549307	29549308	AG	A	NF1	c.1721+361del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29549308del	(Likely) benign	1 lab	19bcfaaf35
20:49225024 RIPOR3 C>T	20	49225024	49225024	C	T	RIPOR3	c.858G>A	NM_001290268.1	NP_001277197.1:p.(Thr286=)	NC_000020.10:g.49225024C>T	(Likely) benign	1 lab	19bd6be975
2:32475576 NLRC4 G>A	2	32475576	32475576	G	A	NLRC4	c.1357C>T	NM_021209.4	NP_067032.3:p.(Arg453Ter)	NC_000002.11:g.32475576G>A	VUS	1 lab	19bda1cd31
X:153036075 PLXNB3 G>C	X	153036075	153036075	G	C	PLXNB3	c.2057G>C	NM_001163257.1	NP_001156729.1:p.(Arg686Thr)	NC_000023.10:g.153036075G>C	(Likely) benign	1 lab	19c099038b
8:22269600 SLC39A14 C>G	8	22269600	22269600	C	G	SLC39A14	c.508C>G	NM_001135153.2	NP_001128625.1:p.(Leu170Val)	NC_000008.10:g.22269600C>G	(Likely) benign	1 lab	19c2c02308
X:64754464 LAS1L G>A	X	64754464	64754464	G	A	LAS1L	c.132C>T	NM_031206.4	NP_112483.1:p.(Ala44=)	NC_000023.10:g.64754464G>A	(Likely) benign	1 lab	19c3818178
5:58270788 PDE4D T>G	5	58270788	58270788	T	G	PDE4D	c.1365A>C	NM_001364604.1	NP_001351533.1:p.(Thr455=)	NC_000005.9:g.58270788T>G	(Likely) benign	1 lab	19c4cfaa12
5:13814968 DNAH5 A>G	5	13814968	13814968	A	G	DNAH5	c.6989-13T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13814968A>G	(Likely) benign	1 lab	19c52156e1
16:47733261 PHKB C>G	16	47733261	47733261	C	G	PHKB	c.3245C>G	NM_001031835.2	NP_001027005.1:p.(Pro1082Arg)	NC_000016.9:g.47733261C>G	VUS	1 lab	19c60ba654
3:46750742 TMIE A>G	3	46750742	46750742	A	G	TMIE	c.338A>G	NM_147196.2	NP_671729.2:p.(Asn113Ser)	NC_000003.11:g.46750742A>G	VUS	1 lab	19c669e8cb
10:99683022 CRTAC1 T>C	10	99683022	99683022	T	C	CRTAC1	c.557A>G	NM_018058.6	NP_060528.3:p.(Lys186Arg)	NC_000010.10:g.99683022T>C	(Likely) benign	1 lab	19c77e355e
3:48621210 COL7A1 G>T	3	48621210	48621210	G	T	COL7A1	c.4282C>A	NM_000094.3	NP_000085.1:p.(Leu1428Ile)	NC_000003.11:g.48621210G>T	(Likely) benign	1 lab	19c8106eda
10:79397344 KCNMA1 TCCGCCGCCGCCGCCGCCGCCGCTGCTGCCG>T	10	79397344	79397388	TCCGCCGCCGCCGCCGCCGCCGCTGCTGCCG	T	KCNMA1	c.27_56del	NM_001322830.2	NP_001309759.1:p.(Gly13_Ser22del)	NC_000010.10:g.79397359_79397388del	VUS	1 lab	e4393dfb4d
11:66299208 BBS1 A>C	11	66299208	66299208	A	C	BBS1	c.1690A>C	NM_024649.4	NP_078925.3:p.(Ile564Leu)	NC_000011.9:g.66299208A>C	VUS	1 lab	19c86893bf
6:135778638 AHI1 T>C	6	135778638	135778638	T	C	AHI1	c.1145A>G	NM_001134831.1	NP_001128303.1:p.(Asp382Gly)	NC_000006.11:g.135778638T>C	VUS	1 lab	19c86c24a5
11:108383883 EXPH5 G>A	11	108383883	108383883	G	A	EXPH5	c.2351C>T	NM_015065.3	NP_055880.2:p.(Pro784Leu)	NC_000011.9:g.108383883G>A	(Likely) benign	1 lab	19c9561ce4
16:2105524 TSC2 A>G	16	2105524	2105524	A	G	TSC2	c.599+4A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105524A>G	VUS	1 lab	19c9723d50
X:43552591 MAOA A>G	X	43552591	43552591	A	G	MAOA	c.222A>G	NM_000240.3	NP_000231.1:p.(Gln74=)	NC_000023.10:g.43552591A>G	(Likely) benign	1 lab	19ca809fb0
3:4744545 ITPR1 A>G	3	4744545	4744545	A	G	ITPR1	c.4523A>G	NM_001168272.1	NP_001161744.1:p.(Gln1508Arg)	NC_000003.11:g.4744545A>G	VUS	1 lab	19cb10e409
11:67811800 TCIRG1 C>T	11	67811800	67811800	C	T	TCIRG1				NC_000011.9:g.67811800C>T	VUS	1 lab	1b5777e777
13:40261891 COG6 GA>G	13	40261891	40261895	GA	G	COG6	c.968del	NM_020751.3	NP_065802.1:p.(Lys323ArgfsTer8)	NC_000013.10:g.40261895del	(Likely) pathogenic	1 lab	19cb2e4425
20:62326910 RTEL1 G>A	20	62326910	62326910	G	A	RTEL1	c.3729G>A	NM_001283009.1	NP_001269938.1:p.(Val1243=)	NC_000020.10:g.62326910G>A	(Likely) benign	1 lab	19cd65896a
20:30898883 KIF3B G>A	20	30898883	30898883	G	A	KIF3B	c.1303G>A	NM_004798.4	NP_004789.1:p.(Val435Ile)	NC_000020.10:g.30898883G>A	(Likely) benign	1 lab	e43b80aeff
17:17118621 FLCN A>T	17	17118621	17118621	A	T	FLCN	c.1310T>A	NM_144997.5	NP_659434.2:p.(Val437Asp)	NC_000017.10:g.17118621A>T	VUS	1 lab	19cf2761fa
16:2347446 ABCA3 A>G	16	2347446	2347446	A	G	ABCA3	c.2147T>C	NM_001089.2	NP_001080.2:p.(Ile716Thr)	NC_000016.9:g.2347446A>G	VUS	1 lab	19cfb0f053
16:28498845 CLN3 C>T	16	28498845	28498845	C	T	CLN3	c.392G>A	NM_001042432.1	NP_001035897.1:p.(Ser131Asn)	NC_000016.9:g.28498845C>T	VUS	1 lab	19d39a542b
2:63660902 WDPCP C>T	2	63660902	63660902	C	T	WDPCP	c.802G>A	NM_015910.6	NP_056994.3:p.(Gly268Ser)	NC_000002.11:g.63660902C>T	(Likely) benign	1 lab	19d412fb2e
2:228563512 SLC19A3 C>G	2	228563512	228563512	C	G	SLC19A3	c.919G>C	NM_025243.3	NP_079519.1:p.(Ala307Pro)	NC_000002.11:g.228563512C>G	VUS	1 lab	19d737baee
7:23213687 KLHL7 G>A	7	23213687	23213687	G	A	KLHL7	c.1387G>A	NM_018846.4	NP_061334.4:p.(Val463Ile)	NC_000007.13:g.23213687G>A	VUS	1 lab	19d7573b50
3:180327792 TTC14 G>A	3	180327792	180327792	G	A	TTC14	c.1775G>A	NM_133462.4	NP_597719.1:p.(Gly592Asp)	NC_000003.11:g.180327792G>A	VUS	1 lab	19d82bd370
5:37164372 CPLANE1 T>A	5	37164372	37164372	T	A	CPLANE1	c.7588+3A>T	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37164372T>A	VUS	1 lab	19d886afff
5:176631302 NSD1 C>T	5	176631302	176631302	C	T	NSD1	c.1236+9C>T	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176631302C>T	(Likely) benign	1 lab	19d8d278eb
22:17565990 IL17RA C>A	22	17565990	17565990	C	A	IL17RA	c.9C>A	NM_014339.6	NP_055154.3:p.(Ala3=)	NC_000022.10:g.17565990C>A	(Likely) benign	1 lab	19db1bf316
2:162275533 TBR1 TCGCCGTCAC>T	2	162275533	162275546	TCGCCGTCAC	T	TBR1	c.1105_1113del	NM_006593.4	NP_006584.1:p.(Val369_Ala371del)	NC_000002.11:g.162275538_162275546del	(Likely) pathogenic	1 lab	e43f89960c
6:18143955 TPMT C>G	6	18143955	18143955	C	G	TPMT	c.238G>C	NM_000367.4	NP_000358.1:p.(Ala80Pro)	NC_000006.11:g.18143955C>G	VUS	1 lab	19dcae0511
12:58156947 CYP27B1 T>C	12	58156947	58156947	T	C	CYP27B1	c.1505A>G	NM_000785.3	NP_000776.1:p.(Asn502Ser)	NC_000012.11:g.58156947T>C	(Likely) benign	1 lab	19dece2bc6
16:104021 SNRNP25 T>G	16	104021	104021	T	G	SNRNP25	c.32T>G	NM_024571.3	NP_078847.1:p.(Val11Gly)	NC_000016.9:g.104021T>G	VUS	1 lab	1bc6366173
19:2137788 AP3D1 C>T	19	2137788	2137788	C	T	AP3D1	c.211G>A	NM_001261826.3	NP_001248755.1:p.(Asp71Asn)	NC_000019.9:g.2137788C>T	VUS	1 lab	19e03a016b
10:55945028 PCDH15 T>C	10	55945028	55945028	T	C	PCDH15	c.1306A>G	NM_001354429.1	NP_001341358.1:p.(Thr436Ala)	NC_000010.10:g.55945028T>C	VUS	1 lab	19e1f0245b
2:25967154 ASXL2 GGCGGCTGCAGCAGCT>G	2	25967154	25967174	GGCGGCTGCAGCAGCT	G	ASXL2	c.2037_2051del	NM_018263.6	NP_060733.4:p.(Ala680_Ala684del)	NC_000002.11:g.25967160_25967174del	VUS	1 lab	19e269e58c
7:26235534 HNRNPA2B1 T>C	7	26235534	26235534	T	C	HNRNPA2B1	c.695-5A>G	NM_031243.2	NP_112533.1:p.?	NC_000007.13:g.26235534T>C	(Likely) benign	1 lab	19e3795c6a
13:32954238 BRCA2 AGGTGG>A	13	32954238	32954243	AGGTGG	A	BRCA2	c.9213_9217del	NM_000059.4	NP_000050.3:p.(Val3072ProfsTer37)	NC_000013.10:g.32954239_32954243del	(Likely) pathogenic	1 lab	19e3ad6a6d
15:23891610 MAGEL2 G>A	15	23891610	23891610	G	A	MAGEL2	c.1280C>T	NM_019066.4	NP_061939.3:p.(Pro427Leu)	NC_000015.9:g.23891610G>A	VUS	1 lab	19e4f468a9
5:13886133 DNAH5 C>T	5	13886133	13886133	C	T	DNAH5	c.2683G>A	NM_001369.2	NP_001360.1:p.(Glu895Lys)	NC_000005.9:g.13886133C>T	(Likely) benign	1 lab	19e738f4ee
11:134022886 NCAPD3 A>G	11	134022886	134022886	A	G	NCAPD3	c.4450T>C	NM_015261.2	NP_056076.1:p.(Cys1484Arg)	NC_000011.9:g.134022886A>G	(Likely) benign	1 lab	19e7b45920
22:19398272 HIRA G>T	22	19398272	19398272	G	T	HIRA	c.67C>A	NM_003325.4	NP_003316.3:p.(Pro23Thr)	NC_000022.10:g.19398272G>T	VUS	1 lab	e449dc4449
6:42936076 PEX6 A>C	6	42936076	42936076	A	C	PEX6	c.1640T>G	NM_000287.4	NP_000278.3:p.(Val547Gly)	NC_000006.11:g.42936076A>C	VUS	1 lab	e44c5313bd
17:74261587 UBALD2 A>T	17	74261587	74261587	A	T	UBALD2	c.1A>T	NM_182565.4	NP_872371.1:p.(Met1?)	NC_000017.10:g.74261587A>T	VUS	1 lab	19e8fa50a0
21:44845360 SIK1 T>C	21	44845360	44845360	T	C	SIK1	c.200A>G	NM_173354.5	NP_775490.2:p.(Asn67Ser)	NC_000021.8:g.44845360T>C	VUS	1 lab	e44cf6ba35
14:65239540 SPTB A>G	14	65239540	65239540	A	G	SPTB	c.5311T>C	NM_001024858.3	NP_001020029.1:p.(Trp1771Arg)	NC_000014.8:g.65239540A>G	VUS	1 lab	19ec383013
15:62219453 VPS13C G>A	15	62219453	62219453	G	A	VPS13C	c.6353C>T	NM_001018088.2	NP_001018098.1:p.(Ala2118Val)	NC_000015.9:g.62219453G>A	VUS	1 lab	19ed1bab88
17:29548890 NF1 T>G	17	29548890	29548890	T	G	NF1	c.1664T>G	NM_000267.3	NP_000258.1:p.(Leu555Ter)	NC_000017.10:g.29548890T>G	(Likely) pathogenic	1 lab	19edeb37ee
3:45517980 LARS2 C>T	3	45517980	45517980	C	T	LARS2	c.879C>T	NM_015340.4	NP_056155.1:p.(Gly293=)	NC_000003.11:g.45517980C>T	(Likely) benign	1 lab	19efe6dc54
7:2578000 BRAT1 A>T	7	2578000	2578000	A	T	BRAT1	c.2349T>A	NM_001350626.1	NP_001337555.1:p.(Leu783=)	NC_000007.13:g.2578000A>T	(Likely) benign	1 lab	19f0ca7c4f
19:50412788 NUP62 C>T	19	50412788	50412788	C	T	NUP62	c.277G>A	NM_016553.4	NP_057637.2:p.(Gly93Ser)	NC_000019.9:g.50412788C>T	(Likely) benign	1 lab	19f1816963
7:100246417 ACTL6B A>G	7	100246417	100246417	A	G	ACTL6B	c.497T>C	NM_016188.4	NP_057272.1:p.(Val166Ala)	NC_000007.13:g.100246417A>G	VUS	1 lab	19f1f27412
11:66457401 SPTBN2 C>T	11	66457401	66457401	C	T	SPTBN2	c.5824G>A	NM_006946.3	NP_008877.1:p.(Ala1942Thr)	NC_000011.9:g.66457401C>T	VUS	1 lab	19f2ec8c6c
2:179602967 TTN C>T	2	179602967	179602967	C	T	TTN	c.14213G>A	NM_001267550.1	NP_001254479.1:p.(Arg4738Gln)	NC_000002.11:g.179602967C>T	VUS	1 lab	19f3675ae7
1:203028338 PPFIA4 G>T	1	203028338	203028338	G	T	PPFIA4	c.2440G>T	NM_001304331.1	NP_001291260.1:p.(Glu814Ter)	NC_000001.10:g.203028338G>T	VUS	1 lab	19f3fe804b
8:97172811 GDF6 A>C	8	97172811	97172811	A	C	GDF6	c.110T>G	NM_001001557.3	NP_001001557.1:p.(Leu37Arg)	NC_000008.10:g.97172811A>C	(Likely) benign	1 lab	19f46ef899
11:17552969 USH1C A>T	11	17552969	17552969	A	T	USH1C	c.225T>A	NM_153676.3	NP_710142.1:p.(Asp75Glu)	NC_000011.9:g.17552969A>T	VUS	1 lab	19f74fea8c
7:91852273 KRIT1 TATATTCGAACTTTTTC>T	7	91852273	91852292	TATATTCGAACTTTTTC	T	KRIT1	c.1258_1273del	NM_194454.3	NP_919436.1:p.(Glu420ThrfsTer12)	NC_000007.13:g.91852277_91852292del	(Likely) pathogenic	1 lab	19f77e7209
5:89949347 ADGRV1 G>A	5	89949347	89949347	G	A	ADGRV1	c.3956G>A	NM_032119.4	NP_115495.3:p.(Arg1319Gln)	NC_000005.9:g.89949347G>A	(Likely) benign	1 lab	19f7b5e583
2:166848598 SCN1A C>A	2	166848598	166848598	C	A	SCN1A	c.5187G>T	NM_001202435.2	NP_001189364.1:p.(Leu1729Phe)	NC_000002.11:g.166848598C>A	VUS	1 lab	19f7d9c87e
12:80730752 OTOGL C>T	12	80730752	80730752	C	T	OTOGL	c.4801C>T	NM_173591.3	NP_775862.3:p.(His1601Tyr)	NC_000012.11:g.80730752C>T	VUS	1 lab	19f9f10524
3:39186684 CSRNP1 G>A	3	39186684	39186684	G	A	CSRNP1	c.329C>T	NM_001320559.1	NP_001307488.1:p.(Thr110Ile)	NC_000003.11:g.39186684G>A	VUS	1 lab	19fa15ab23
1:22170787 HSPG2 C>T	1	22170787	22170787	C	T	HSPG2	c.8473G>A	NM_001291860.1	NP_001278789.1:p.(Gly2825Ser)	NC_000001.10:g.22170787C>T	(Likely) benign	1 lab	19fa726d9f
2:179466276 TTN G>A	2	179466276	179466276	G	A	TTN	c.55448C>T	NM_001267550.1	NP_001254479.1:p.(Pro18483Leu)	NC_000002.11:g.179466276G>A	VUS	1 lab	19fc94d70b
11:65790365 CATSPER1 C>G	11	65790365	65790365	C	G	CATSPER1	c.1384G>C	NM_053054.3	NP_444282.3:p.(Val462Leu)	NC_000011.9:g.65790365C>G	(Likely) benign	1 lab	19fdd1a0bc
X:27997765 DCAF8L1 C>G	X	27997765	27997765	C	G	DCAF8L1	c.1687G>C	NM_001017930.1	NP_001017930.1:p.(Gly563Arg)	NC_000023.10:g.27997765C>G	(Likely) benign	1 lab	19fe380b9d
1:155208042 GBA1 G>T	1	155208042	155208042	G	T	GBA1	c.644C>A	NM_001005741.2	NP_001005741.1:p.(Ala215Asp)	NC_000001.10:g.155208042G>T	VUS	1 lab	19fea71b45
10:112572543 RBM20 C>G	10	112572543	112572543	C	G	RBM20	c.2388C>G	NM_001134363.1	NP_001127835.1:p.(Pro796=)	NC_000010.10:g.112572543C>G	(Likely) benign	1 lab	19fefa65ae
14:68221965 ZFYVE26 G>A	14	68221965	68221965	G	A	ZFYVE26	c.6789C>T	NM_015346.3	NP_056161.2:p.(Asp2263=)	NC_000014.8:g.68221965G>A	(Likely) benign	1 lab	1a0181f574
15:57565228 TCF12 C>T	15	57565228	57565228	C	T	TCF12	c.1572C>T	NM_001322156.1	NP_001309085.1:p.(Ser524=)	NC_000015.9:g.57565228C>T	(Likely) benign	1 lab	1a0278a48b
12:55863480 OR6C70 A>G	12	55863480	55863480	A	G	OR6C70	c.443T>C	NM_001005499.1	NP_001005499.1:p.(Val148Ala)	NC_000012.11:g.55863480A>G	(Likely) benign	1 lab	1a029275bc
11:70333191 SHANK2 G>A	11	70333191	70333191	G	A	SHANK2	c.1443C>T	NM_133266.3	NP_573573.2:p.(Asp481=)	NC_000011.9:g.70333191G>A	(Likely) benign	1 lab	1a0571e65d
3:124377338 KALRN G>A	3	124377338	124377338	G	A	KALRN	c.6094G>A	NM_001024660.5	NP_001019831.2:p.(Val2032Ile)	NC_000003.11:g.124377338G>A	VUS	1 lab	e453687f48
13:73482809 PIBF1 A>C	13	73482809	73482809	A	C	PIBF1	c.1629A>C	NM_006346.3	NP_006337.2:p.(Gln543His)	NC_000013.10:g.73482809A>C	VUS	1 lab	1a07795aa7
4:649776 PDE6B A>ACG	4	649776	649778	A	ACG	PDE6B	c.1041_1042dup	NM_000283.3	NP_000274.2:p.(Val348AlafsTer12)	NC_000004.11:g.649777_649778dup	(Likely) pathogenic	1 lab	1a078b7ed8
5:149497379 PDGFRB C>T	5	149497379	149497379	C	T	PDGFRB	c.2939G>A	NM_002609.3	NP_002600.1:p.(Ser980Asn)	NC_000005.9:g.149497379C>T	VUS	1 lab	1a08370a53
20:50406704 SALL4 T>C	20	50406704	50406704	T	C	SALL4	c.2318A>G	NM_020436.3	NP_065169.1:p.(Gln773Arg)	NC_000020.10:g.50406704T>C	(Likely) benign	1 lab	1a0853bbe4
6:3225245 TUBB2B C>T	6	3225245	3225245	C	T	TUBB2B	c.1078G>A	NM_178012.4	NP_821080.1:p.(Gly360Ser)	NC_000006.11:g.3225245C>T	VUS	1 lab	1a08f47264
7:42005201 GLI3 TC>T	7	42005201	42005202	TC	T	GLI3	c.3469del	NM_000168.6	NP_000159.3:p.(Asp1157ThrfsTer49)	NC_000007.13:g.42005202del	(Likely) pathogenic	1 lab	1a09f37d3b
4:169846168 PALLD T>C	4	169846168	169846168	T	C	PALLD	c.3297T>C	NM_001166108.2	NP_001159580.1:p.(Tyr1099=)	NC_000004.11:g.169846168T>C	(Likely) benign	1 lab	1a0aa757f9
6:152457772 SYNE1 T>G	6	152457772	152457772	T	G	SYNE1	c.25640A>C	NM_182961.3	NP_892006.3:p.(Asp8547Ala)	NC_000006.11:g.152457772T>G	VUS	1 lab	1a0af7898b
16:69728064 NFAT5 G>A	16	69728064	69728064	G	A	NFAT5	c.4054G>A	NM_138714.3	NP_619728.2:p.(Gly1352Ser)	NC_000016.9:g.69728064G>A	VUS	1 lab	1a0b7bb4a3
2:170097612 LRP2 G>A	2	170097612	170097612	G	A	LRP2	c.3931C>T	NM_004525.3	NP_004516.2:p.(Arg1311Cys)	NC_000002.11:g.170097612G>A	VUS	1 lab	1a0ca76183
4:126411391 FAT4 C>G	4	126411391	126411391	C	G	FAT4	c.13414C>G	NM_024582.4	NP_078858.4:p.(Leu4472Val)	NC_000004.11:g.126411391C>G	(Likely) benign	1 lab	1a0e24cd66
12:58135793 AGAP2 A>ACC	12	58135793	58135795	A	ACC	AGAP2	c.60_61dup	NM_014770.3	NP_055585.1:p.(Val21GlyfsTer7)	NC_000012.11:g.58135794_58135795dup	VUS	1 lab	1a0e523b83
7:99908031 SPDYE3 G>C	7	99908031	99908031	G	C	SPDYE3	c.374G>C	NM_001004351.4	NP_001004351.3:p.(Arg125Thr)	NC_000007.13:g.99908031G>C	VUS	1 lab	1a0ed01be2
7:42007476 GLI3 G>A	7	42007476	42007476	G	A	GLI3	c.2149C>T	NM_000168.5	NP_000159.3:p.(Gln717Ter)	NC_000007.13:g.42007476G>A	(Likely) pathogenic	1 lab	1a0f3ecf58
17:42453727 ITGA2B A>G	17	42453727	42453727	A	G	ITGA2B	c.2297T>C	NM_000419.3	NP_000410.2:p.(Ile766Thr)	NC_000017.10:g.42453727A>G	(Likely) benign	1 lab	1a0f65edf4
17:17118607 FLCN G>GT	17	17118607	17118608	G	GT	FLCN	c.1323_1324insA	NM_144997.7	NP_659434.2:p.(His442ThrfsTer14)	NC_000017.10:g.17118607_17118608insT	(Likely) pathogenic	1 lab	e453c9db04
8:2944629 CSMD1 T>C	8	2944629	2944629	T	C	CSMD1	c.7464A>G	NM_033225.6	NP_150094.5:p.(Pro2488=)	NC_000008.10:g.2944629T>C	(Likely) benign	1 lab	1a11ccb62c
14:105405199 AHNAK2 G>A	14	105405199	105405199	G	A	AHNAK2	c.16589C>T	NM_138420.3	NP_612429.2:p.(Thr5530Met)	NC_000014.8:g.105405199G>A	VUS	1 lab	1a125450a7
8:145112495 OPLAH G>A	8	145112495	145112495	G	A	OPLAH	c.1278C>T	NM_017570.4	NP_060040.1:p.(Ala426=)	NC_000008.10:g.145112495G>A	(Likely) benign	1 lab	1a126d1836
11:71155929 DHCR7 C>A	11	71155929	71155929	C	A	DHCR7	c.70G>T	NM_001360.2	NP_001351.2:p.(Ala24Ser)	NC_000011.9:g.71155929C>A	(Likely) benign	1 lab	1a12e2c758
9:117840299 TNC T>C	9	117840299	117840299	T	C	TNC	c.2597A>G	NM_002160.3	NP_002151.2:p.(Asp866Gly)	NC_000009.11:g.117840299T>C	VUS	1 lab	1a141d8eac
7:44104542 PGAM2 G>C	7	44104542	44104542	G	C	PGAM2	c.484C>G	NM_000290.3	NP_000281.2:p.(Arg162Gly)	NC_000007.13:g.44104542G>C	VUS	1 lab	1a15686408
X:35938038 CFAP47 G>C	X	35938038	35938038	G	C	CFAP47	c.122G>C	NM_001304548.1	NP_001291477.1:p.(Arg41Pro)	NC_000023.10:g.35938038G>C	VUS	1 lab	1a17a09e27
2:179442810 TTN C>T	2	179442810	179442810	C	T	TTN	c.68432G>A	NM_001267550.2	NP_001254479.2:p.(Gly22811Asp)	NC_000002.11:g.179442810C>T	VUS	1 lab	e454ac3f09
11:118529416 TREH G>A	11	118529416	118529416	G	A	TREH	c.1572C>T	NM_007180.2	NP_009111.2:p.(Pro524=)	NC_000011.9:g.118529416G>A	(Likely) benign	1 lab	1a2269493c
14:91779548 CCDC88C G>A	14	91779548	91779548	G	A	CCDC88C	c.2612C>T	NM_001080414.3	NP_001073883.2:p.(Ala871Val)	NC_000014.8:g.91779548G>A	(Likely) benign	1 lab	1a18b38237
5:118792001 HSD17B4 T>G	5	118792001	118792001	T	G	HSD17B4	c.69-9T>G	NM_001199291.2	NP_001186220.1:p.?	NC_000005.9:g.118792001T>G	VUS	1 lab	1a191d5f6f
14:61115754 SIX1 C>A	14	61115754	61115754	C	A	SIX1	c.154G>T	NM_005982.3	NP_005973.1:p.(Ala52Ser)	NC_000014.8:g.61115754C>A	VUS	1 lab	1a1bc3ce21
12:56628738 SLC39A5 C>T	12	56628738	56628738	C	T	SLC39A5	c.602C>T	NM_173596.2	NP_775867.2:p.(Pro201Leu)	NC_000012.11:g.56628738C>T	(Likely) benign	1 lab	1a1d0ab60c
19:1219410 STK11 C>CG	19	1219410	1219413	C	CG	STK11	c.464_464+1insG	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1219413dup	(Likely) pathogenic	1 lab	1a1d2d7eff
16:2113055 TSC2 G>A	16	2113055	2113055	G	A	TSC2	c.1443+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2113055G>A	(Likely) pathogenic	1 lab	1a1d8f0253
X:6451826 VCX3A A>G	X	6451826	6451826	A	G	VCX3A	c.521T>C	NM_016379.3	NP_057463.2:p.(Leu174Pro)	NC_000023.10:g.6451826A>G	(Likely) benign	1 lab	1a1e246097
9:135204235 SETX A>G	9	135204235	135204235	A	G	SETX	c.2750T>C	NM_001351527.1	NP_001338456.1:p.(Met917Thr)	NC_000009.11:g.135204235A>G	(Likely) benign	1 lab	1a1ebf7cbc
11:49076963 TRIM64C C>CAA	11	49076963	49076973	C	CAA	TRIM64C	c.762-6_762-5dup	NM_001206631.1	NP_001193560.1:p.?	NC_000011.9:g.49076972_49076973dup	(Likely) benign	1 lab	1a1f812147
9:137582842 COL5A1 G>A	9	137582842	137582842	G	A	COL5A1	c.194G>A	NM_000093.4	NP_000084.3:p.(Arg65Gln)	NC_000009.11:g.137582842G>A	(Likely) benign	1 lab	1a2023ab9c
4:103531777 NFKB1 A>G	4	103531777	103531777	A	G	NFKB1	c.2270A>G	NM_001165412.1	NP_001158884.1:p.(Asp757Gly)	NC_000004.11:g.103531777A>G	VUS	1 lab	1a238c834e
4:39462502 LIAS A>G	4	39462502	39462502	A	G	LIAS	c.138A>G	NM_006859.3	NP_006850.2:p.(Gln46=)	NC_000004.11:g.39462502A>G	(Likely) benign	1 lab	1a259d98e1
11:108170580 ATM G>A	11	108170580	108170580	G	A	ATM	c.5145G>A	NM_001351834.1	NP_001338763.1:p.(Leu1715=)	NC_000011.9:g.108170580G>A	(Likely) benign	1 lab	1a25bd83f3
3:135870283 MSL2 G>A	3	135870283	135870283	G	A	MSL2	c.1440C>T	NM_018133.4	NP_060603.2:p.(Arg480=)	NC_000003.11:g.135870283G>A	(Likely) benign	1 lab	1a26fbe6c5
9:14859460 FREM1 TGAAG>T	9	14859460	14859465	TGAAG	T	FREM1	c.348_351del	NM_001379081.2	NP_001366010.1:p.(Phe117Ter)	NC_000009.11:g.14859462_14859465del	(Likely) pathogenic	1 lab	1a27175395
9:37785041 EXOSC3 T>C	9	37785041	37785041	T	C	EXOSC3	c.1A>G	NM_016042.3	NP_057126.2:p.(Met1?)	NC_000009.11:g.37785041T>C	(Likely) pathogenic	1 lab	1a27a21506
12:9020559 A2ML1 C>G	12	9020559	9020559	C	G	A2ML1	c.3839C>G	NM_144670.5	NP_653271.2:p.(Ser1280Ter)	NC_000012.11:g.9020559C>G	VUS	1 lab	1a29e30c45
13:101167774 PCCA C>T	13	101167774	101167774	C	T	PCCA	c.1993C>T	NM_000282.3	NP_000273.2:p.(Pro665Ser)	NC_000013.10:g.101167774C>T	VUS	1 lab	1a2ac822e7
X:70341499 MED12 G>C	X	70341499	70341499	G	C	MED12	c.934G>C	NM_005120.2	NP_005111.2:p.(Val312Leu)	NC_000023.10:g.70341499G>C	(Likely) benign	1 lab	1a2c1abd91
9:137713965 COL5A1 C>T	9	137713965	137713965	C	T	COL5A1	c.4577C>T	NM_000093.4	NP_000084.3:p.(Pro1526Leu)	NC_000009.11:g.137713965C>T	VUS	1 lab	1a2c6944d6
8:143994816 CYP11B2 C>T	8	143994816	143994816	C	T	CYP11B2	c.1006G>A	NM_000498.3	NP_000489.3:p.(Val336Met)	NC_000008.10:g.143994816C>T	VUS	1 lab	1a2c92d155
17:18046096 MYO15A G>C	17	18046096	18046096	G	C	MYO15A	c.5852G>C	NM_016239.3	NP_057323.3:p.(Ser1951Thr)	NC_000017.10:g.18046096G>C	VUS	1 lab	1a2d0297c5
15:23891818 MAGEL2 G>T	15	23891818	23891818	G	T	MAGEL2	c.1072C>A	NM_019066.4	NP_061939.3:p.(Pro358Thr)	NC_000015.9:g.23891818G>T	VUS	1 lab	1a2d97fef8
1:16462216 EPHA2 G>T	1	16462216	16462216	G	T	EPHA2	c.1362C>A	NM_004431.4	NP_004422.2:p.(Val454=)	NC_000001.10:g.16462216G>T	(Likely) benign	1 lab	1a2dde63c1
15:85411567 ALPK3 C>T	15	85411567	85411567	C	T	ALPK3	c.5604C>T	NM_020778.4	NP_065829.3:p.(Gly1868=)	NC_000015.9:g.85411567C>T	(Likely) benign	1 lab	1a2ed71e46
21:34926497 SON G>A	21	34926497	34926497	G	A	SON	c.4960G>A	NM_032195.3	NP_115571.3:p.(Asp1654Asn)	NC_000021.8:g.34926497G>A	VUS	1 lab	e460ada1f9
2:239161685 PER2 C>T	2	239161685	239161685	C	T	PER2	c.2979G>A	NM_022817.2	NP_073728.1:p.(Leu993=)	NC_000002.11:g.239161685C>T	(Likely) benign	1 lab	1a2f4690bb
6:160485490 IGF2R G>A	6	160485490	160485490	G	A	IGF2R	c.3944G>A	NM_000876.3	NP_000867.2:p.(Gly1315Glu)	NC_000006.11:g.160485490G>A	(Likely) benign	1 lab	1a2ff0ed98
3:132201136 DNAJC13 G>A	3	132201136	132201136	G	A	DNAJC13	c.2956G>A	NM_001329126.1	NP_001316055.1:p.(Ala986Thr)	NC_000003.11:g.132201136G>A	(Likely) benign	1 lab	1a2ff3567a
11:124765478 ROBO4 C>A	11	124765478	124765478	C	A	ROBO4	c.911G>T	NM_019055.5	NP_061928.4:p.(Gly304Val)	NC_000011.9:g.124765478C>A	VUS	1 lab	1a32978403
1:26524456 CATSPER4 G>A	1	26524456	26524456	G	A	CATSPER4	c.566G>A	NM_198137.1	NP_937770.1:p.(Arg189His)	NC_000001.10:g.26524456G>A	VUS	1 lab	1a32c7ff54
1:38082289 RSPO1 G>A	1	38082289	38082289	G	A	RSPO1	c.153C>T	NM_001038633.3	NP_001033722.1:p.(Asn51=)	NC_000001.10:g.38082289G>A	(Likely) benign	1 lab	1a36693317
1:236157113 NID1 T>C	1	236157113	236157113	T	C	NID1	c.2587A>G	NM_002508.2	NP_002499.2:p.(Thr863Ala)	NC_000001.10:g.236157113T>C	(Likely) benign	1 lab	1a37e7469e
11:2466522 KCNQ1 C>T	11	2466522	2466522	C	T	KCNQ1	c.194C>T	NM_000218.2	NP_000209.2:p.(Ala65Val)	NC_000011.9:g.2466522C>T	(Likely) benign	1 lab	1a39286a33
14:64920544 MTHFD1 G>A	14	64920544	64920544	G	A	MTHFD1	c.2530G>A	NM_005956.4	NP_005947.3:p.(Glu844Lys)	NC_000014.8:g.64920544G>A	(Likely) benign	1 lab	1a3af42bf1
X:71351140 RTL5 A>G	X	71351140	71351140	A	G	RTL5	c.251T>C	NM_001024455.3	NP_001019626.1:p.(Leu84Pro)	NC_000023.10:g.71351140A>G	VUS	1 lab	1a3b5a549b
3:132209866 DNAJC13 T>C	3	132209866	132209866	T	C	DNAJC13	c.3609T>C	NM_001329126.1	NP_001316055.1:p.(Thr1203=)	NC_000003.11:g.132209866T>C	(Likely) benign	1 lab	1a3c24a25e
22:41919850 ACO2 G>T	22	41919850	41919850	G	T	ACO2	c.1387G>T	NM_001098.2	NP_001089.1:p.(Gly463Trp)	NC_000022.10:g.41919850G>T	VUS	1 lab	1a3ce49d85
11:124791119 HEPACAM C>T	11	124791119	124791119	C	T	HEPACAM	c.1166G>A	NM_152722.5	NP_689935.2:p.(Arg389His)	NC_000011.9:g.124791119C>T	VUS	1 lab	e46145d2ce
14:74759066 ABCD4 G>A	14	74759066	74759066	G	A	ABCD4	c.1042C>T	NM_005050.3	NP_005041.1:p.(Arg348Trp)	NC_000014.8:g.74759066G>A	(Likely) benign	1 lab	1a4066a890
1:185268925 IVNS1ABP C>T	1	185268925	185268925	C	T	IVNS1ABP	c.1592G>A	NM_006469.5	NP_006460.2:p.(Arg531Gln)	NC_000001.10:g.185268925C>T	VUS	1 lab	1a41681657
2:15415907 NBAS T>G	2	15415907	15415907	T	G	NBAS	c.5425A>C	NM_015909.3	NP_056993.2:p.(Ser1809Arg)	NC_000002.11:g.15415907T>G	VUS	1 lab	1a41c46734
5:140953453 DIAPH1 G>C	5	140953453	140953453	G	C	DIAPH1	c.1964C>G	NM_001314007.1	NP_001300936.1:p.(Pro655Arg)	NC_000005.9:g.140953453G>C	VUS	1 lab	1a42da7fef
15:24921180 NPAP1 C>T	15	24921180	24921180	C	T	NPAP1	c.166C>T	NM_018958.2	NP_061831.2:p.(Arg56Cys)	NC_000015.9:g.24921180C>T	VUS	1 lab	1a43cae7ae
14:75019716 LTBP2 G>A	14	75019716	75019716	G	A	LTBP2	c.1071C>T	NM_000428.2	NP_000419.1:p.(Pro357=)	NC_000014.8:g.75019716G>A	(Likely) benign	1 lab	1a45006f06
9:140000755 MAN1B1 A>G	9	140000755	140000755	A	G	MAN1B1	c.1433A>G	NM_016219.4	NP_057303.2:p.(Lys478Arg)	NC_000009.11:g.140000755A>G	(Likely) benign	1 lab	1a4537f9ac
3:15685994 BTD C>T	3	15685994	15685994	C	T	BTD	c.631C>T	NM_000060.4	NP_000051.1:p.(Arg211Cys)	NC_000003.11:g.15685994C>T	(Likely) pathogenic	1 lab	1a46e6d1b5
2:56097853 EFEMP1 A>T	2	56097853	56097853	A	T	EFEMP1	c.1320+2T>A	NM_001039348.2	NP_001034437.1:p.?	NC_000002.11:g.56097853A>T	VUS	1 lab	1a4753e2e3
1:158612775 SPTA1 C>T	1	158612775	158612775	C	T	SPTA1	c.4443-9G>A	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158612775C>T	(Likely) benign	1 lab	1a4a09adcc
1:161480737 FCGR2A C>T	1	161480737	161480737	C	T	FCGR2A	c.733C>T	NM_001136219.1	NP_001129691.1:p.(Arg245Trp)	NC_000001.10:g.161480737C>T	VUS	1 lab	1a4dc95504
19:46116896 EML2 A>T	19	46116896	46116896	A	T	EML2	c.2330T>A	NM_001193268.2	NP_001180197.1:p.(Ile777Asn)	NC_000019.9:g.46116896A>T	VUS	1 lab	1a4e21de63
17:29483021 NF1 GC>AT	17	29483021	29483022	GC	AT	NF1	c.81_82delinsAT	NM_000267.3	NP_000258.1:p.(Gln28Ter)	NC_000017.10:g.29483021_29483022delinsAT	(Likely) pathogenic	1 lab	1a4e73723d
2:182780394 ITPRID2 T>C	2	182780394	182780394	T	C	ITPRID2	c.2027T>C	NM_001130445.3	NP_001123917.1:p.(Met676Thr)	NC_000002.11:g.182780394T>C	(Likely) benign	1 lab	1a4f018674
17:44087754 MAPT C>T	17	44087754	44087754	C	T	MAPT	c.901C>T	NM_005910.5	NP_005901.2:p.(Pro301Ser)	NC_000017.10:g.44087754C>T	(Likely) pathogenic	1 lab	1a4f7bb9c2
15:59506517 MYO1E GA>G	15	59506517	59506526	GA	G	MYO1E	c.1189-5del	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59506526del	(Likely) benign	1 lab	1a53de94eb
2:99013400 CNGA3 C>T	2	99013400	99013400	C	T	CNGA3	c.1767C>T	NM_001298.2	NP_001289.1:p.(Thr589=)	NC_000002.11:g.99013400C>T	(Likely) benign	1 lab	1a555678b6
10:115337833 HABP2 C>T	10	115337833	115337833	C	T	HABP2	c.497C>T	NM_004132.4	NP_004123.1:p.(Ser166Phe)	NC_000010.10:g.115337833C>T	(Likely) benign	1 lab	1a55a2cadb
X:595538 SHOX G>T	X	595538	595538	G	T	SHOX	c.463G>T	NM_000451.3	NP_000442.1:p.(Gly155Trp)	NC_000023.10:g.595538G>T	VUS	1 lab	1b6ceb108b
18:6959394 LAMA1 G>A	18	6959394	6959394	G	A	LAMA1	c.7724C>T	NM_005559.3	NP_005550.2:p.(Thr2575Met)	NC_000018.9:g.6959394G>A	(Likely) benign	1 lab	1a566c87dc
3:58107182 FLNB C>T	3	58107182	58107182	C	T	FLNB	c.3078C>T	NM_001164317.1	NP_001157789.1:p.(Pro1026=)	NC_000003.11:g.58107182C>T	(Likely) benign	1 lab	1a5909c8b3
1:120458941 NOTCH2 A>G	1	120458941	120458941	A	G	NOTCH2	c.6404T>C	NM_024408.3	NP_077719.2:p.(Leu2135Pro)	NC_000001.10:g.120458941A>G	VUS	1 lab	1a5d1dcee2
9:140043550 GRIN1 C>T	9	140043550	140043550	C	T	GRIN1	c.660C>T	NM_007327.3	NP_015566.1:p.(Ile220=)	NC_000009.11:g.140043550C>T	VUS	1 lab	1a5ecb7c1e
20:47589800 ARFGEF2 G>A	20	47589800	47589800	G	A	ARFGEF2	c.1644G>A	NM_006420.2	NP_006411.2:p.(Glu548=)	NC_000020.10:g.47589800G>A	(Likely) benign	1 lab	1a5ee5c767
9:135144827 SETX A>AAAAAAGG	9	135144827	135144834	A	AAAAAAGG	SETX	c.7330_7336dup	NM_001351528.1	NP_001338457.1:p.(Phe2446SerfsTer35)	NC_000009.11:g.135144828_135144834dup	VUS	1 lab	1a5eebd2f4
19:40402340 FCGBP G>A	19	40402340	40402340	G	A	FCGBP	c.5059C>T	NM_003890.2	NP_003881.2:p.(Arg1687Trp)	NC_000019.9:g.40402340G>A	(Likely) benign	1 lab	1a6189a963
11:108128353 ATM G>A	11	108128353	108128353	G	A	ATM	c.2376+20G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108128353G>A	(Likely) benign	1 lab	1a61feb21d
3:123419093 MYLK A>G	3	123419093	123419093	A	G	MYLK	c.3222T>C	NM_053025.3	NP_444253.3:p.(Asp1074=)	NC_000003.11:g.123419093A>G	(Likely) benign	1 lab	1a622afee4
4:122723888 EXOSC9 G>T	4	122723888	122723888	G	T	EXOSC9	c.221G>T	NM_001034194.1	NP_001029366.1:p.(Gly74Val)	NC_000004.11:g.122723888G>T	VUS	1 lab	1a62e53292
11:17537793 USH1C G>A	11	17537793	17537793	G	A	USH1C	c.1255C>T	NM_153676.3	NP_710142.1:p.(Arg419Trp)	NC_000011.9:g.17537793G>A	VUS	1 lab	1a64b932b1
7:105187780 RINT1 C>T	7	105187780	105187780	C	T	RINT1	c.839C>T	NM_021930.5	NP_068749.3:p.(Ser280Leu)	NC_000007.13:g.105187780C>T	VUS	1 lab	1a666a32d1
7:147259374 CNTNAP2 A>G	7	147259374	147259374	A	G	CNTNAP2	c.1897+25A>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147259374A>G	(Likely) benign	1 lab	1a67835432
14:105417247 AHNAK2 G>A	14	105417247	105417247	G	A	AHNAK2	c.4541C>T	NM_138420.3	NP_612429.2:p.(Ala1514Val)	NC_000014.8:g.105417247G>A	(Likely) benign	1 lab	1a68d972f1
16:2105489 TSC2 T>TA	16	2105489	2105490	T	TA	TSC2	c.569dup	NM_000548.3	NP_000539.2:p.(Tyr190Ter)	NC_000016.9:g.2105490dup	(Likely) pathogenic	1 lab	1a69501b8c
X:101912524 GPRASP1 C>T	X	101912524	101912524	C	T	GPRASP1	c.3683C>T	NM_001184727.1	NP_001171656.1:p.(Pro1228Leu)	NC_000023.10:g.101912524C>T	VUS	1 lab	1a6ae1524b
X:153608072 EMD G>A	X	153608072	153608072	G	A	EMD	c.105G>A	NM_000117.2	NP_000108.1:p.(Glu35=)	NC_000023.10:g.153608072G>A	(Likely) benign	1 lab	1a6bb6c060
X:49086735 CACNA1F C>T	X	49086735	49086735	C	T	CACNA1F	c.764G>A	NM_005183.3	NP_005174.2:p.(Gly255Glu)	NC_000023.10:g.49086735C>T	VUS	1 lab	1a6d26368d
15:40913676 KNL1 A>G	15	40913676	40913676	A	G	KNL1	c.1292A>G	NM_170589.4	NP_733468.3:p.(Asp431Gly)	NC_000015.9:g.40913676A>G	(Likely) benign	1 lab	1a6da5f672
X:91642920 PCDH11X G>A	X	91642920	91642920	G	A	PCDH11X	c.3331G>A	NM_032968.4	NP_116750.1:p.(Asp1111Asn)	NC_000023.10:g.91642920G>A	VUS	1 lab	1a6ef445e0
10:64973572 JMJD1C A>C	10	64973572	64973572	A	C	JMJD1C	c.2355T>G	NM_032776.2	NP_116165.1:p.(Gly785=)	NC_000010.10:g.64973572A>C	(Likely) benign	1 lab	1a6f36a65c
18:2775770 SMCHD1 G>A	18	2775770	2775770	G	A	SMCHD1	c.5214G>A	NM_015295.2	NP_056110.2:p.(Ala1738=)	NC_000018.9:g.2775770G>A	(Likely) benign	1 lab	1a6f798ca3
16:8905503 PMM2 TATAAG>T	16	8905503	8905509	TATAAG	T	PMM2	c.458_462del	NM_000303.3	NP_000294.1:p.(Ile153ThrfsTer27)	NC_000016.9:g.8905505_8905509del	(Likely) pathogenic	1 lab	1a6fb13156
1:213046073 FLVCR1 G>A	1	213046073	213046073	G	A	FLVCR1	c.937G>A	NM_014053.3	NP_054772.1:p.(Asp313Asn)	NC_000001.10:g.213046073G>A	(Likely) benign	1 lab	1a6fe60f75
13:100635322 ZIC2 G>T	13	100635322	100635322	G	T	ZIC2	c.1004G>T	NM_007129.5	NP_009060.2:p.(Cys335Phe)	NC_000013.10:g.100635322G>T	(Likely) pathogenic	1 lab	e462b8199e
20:5283319 PROKR2 G>A	20	5283319	5283319	G	A	PROKR2	c.522C>T	NM_144773.3	NP_658986.1:p.(Ile174=)	NC_000020.10:g.5283319G>A	(Likely) benign	1 lab	1a722ef39c
2:74598112 DCTN1 C>T	2	74598112	74598112	C	T	DCTN1	c.837G>A	NM_004082.4	NP_004073.2:p.(Ala279=)	NC_000002.11:g.74598112C>T	(Likely) benign	1 lab	1a73f20d7e
14:23902428 MYH7 G>A	14	23902428	23902428	G	A	MYH7	c.210C>T	NM_000257.2	NP_000248.2:p.(Thr70=)	NC_000014.8:g.23902428G>A	(Likely) benign	1 lab	1a761df21a
17:41222990 BRCA1 G>T	17	41222990	41222990	G	T	BRCA1	c.4941C>A	NM_007294.4	NP_009225.1:p.(Asn1647Lys)	NC_000017.10:g.41222990G>T	(Likely) benign	1 lab	e462ff8230
9:79966283 VPS13A A>G	9	79966283	79966283	A	G	VPS13A	c.7340A>G	NM_015186.3	NP_056001.1:p.(Tyr2447Cys)	NC_000009.11:g.79966283A>G	VUS	1 lab	1a79b56ddd
12:123187530 HCAR2 G>A	12	123187530	123187530	G	A	HCAR2	c.301C>T	NM_177551.3	NP_808219.1:p.(Arg101Trp)	NC_000012.11:g.123187530G>A	VUS	1 lab	1a79cf1085
2:170026231 LRP2 C>T	2	170026231	170026231	C	T	LRP2	c.11478G>A	NM_004525.3	NP_004516.2:p.(Ala3826=)	NC_000002.11:g.170026231C>T	(Likely) benign	1 lab	1a7a82c8d9
17:7910793 GUCY2D C>T	17	7910793	7910793	C	T	GUCY2D	c.1513C>T	NM_000180.3	NP_000171.1:p.(Leu505=)	NC_000017.10:g.7910793C>T	(Likely) benign	1 lab	1a7f13086d
18:28649082 DSC2 G>A	18	28649082	28649082	G	A	DSC2	c.2286C>T	NM_024422.4	NP_077740.1:p.(Gly762=)	NC_000018.9:g.28649082G>A	(Likely) benign	1 lab	1a7fcc2cef
20:61453946 COL9A3 C>T	20	61453946	61453946	C	T	COL9A3	c.481C>T	NM_001853.4	NP_001844.3:p.(His161Tyr)	NC_000020.10:g.61453946C>T	(Likely) benign	1 lab	1a8048be0b
19:41206082 COQ8B G>C	19	41206082	41206082	G	C	COQ8B	c.1036-3C>G	NM_024876.3	NP_079152.3:p.?	NC_000019.9:g.41206082G>C	(Likely) benign	1 lab	1a82576f8d
X:153580797 FLNA A>G	X	153580797	153580797	A	G	FLNA	c.6521T>C	NM_001110556.2	NP_001104026.1:p.(Met2174Thr)	NC_000023.10:g.153580797A>G	VUS	1 lab	1a85a8fc15
5:82836538 VCAN G>A	5	82836538	82836538	G	A	VCAN	c.7716G>A	NM_004385.4	NP_004376.2:p.(Ser2572=)	NC_000005.9:g.82836538G>A	(Likely) benign	1 lab	1a88972dac
12:7242740 MISSING C>G	12	7242740	7242740	C	G	MISSING				NC_000012.11:g.7242740C>G	VUS	1 lab	1a8b19d6cc
20:25371138 ABHD12 CGAAG>C	20	25371138	25371142	CGAAG	C	ABHD12	c.191+7_191+10del	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371139_25371142del	(Likely) benign	1 lab	1a8b1e2de4
9:137716694 COL5A1 C>A	9	137716694	137716694	C	A	COL5A1	c.4947C>A	NM_000093.4	NP_000084.3:p.(Phe1649Leu)	NC_000009.11:g.137716694C>A	(Likely) benign	1 lab	1a8b2eee2e
5:70811975 BDP1 G>A	5	70811975	70811975	G	A	BDP1	c.4737G>A	NM_018429.2	NP_060899.2:p.(Pro1579=)	NC_000005.9:g.70811975G>A	(Likely) benign	1 lab	1a8d699d5c
2:233621004 GIGYF2 G>C	2	233621004	233621004	G	C	GIGYF2	c.339G>C	NM_015575.3	NP_056390.2:p.(Val113=)	NC_000002.11:g.233621004G>C	(Likely) benign	1 lab	1a8fa8ea93
14:64476702 SYNE2 A>G	14	64476702	64476702	A	G	SYNE2	c.4596A>G	NM_182914.2	NP_878918.2:p.(Arg1532=)	NC_000014.8:g.64476702A>G	(Likely) benign	1 lab	1a90300822
X:18924865 PHKA2 C>T	X	18924865	18924865	C	T	PHKA2	c.2665G>A	NM_000292.2	NP_000283.1:p.(Val889Ile)	NC_000023.10:g.18924865C>T	(Likely) benign	1 lab	1a90ebf332
2:149866732 KIF5C T>C	2	149866732	149866732	T	C	KIF5C	c.2634T>C	NM_004522.3	NP_004513.1:p.(Ala878=)	NC_000002.11:g.149866732T>C	(Likely) benign	1 lab	1a9383dcbc
X:19560085 SH3KBP1 C>T	X	19560085	19560085	C	T	SH3KBP1	c.1850G>A	NM_031892.2	NP_114098.1:p.(Arg617His)	NC_000023.10:g.19560085C>T	VUS	1 lab	1a9459dc11
22:41924511 ACO2 A>G	22	41924511	41924511	A	G	ACO2	c.2237A>G	NM_001098.2	NP_001089.1:p.(Asn746Ser)	NC_000022.10:g.41924511A>G	VUS	1 lab	1a95a2b786
2:179621045 TTN A>G	2	179621045	179621045	A	G	TTN	c.11158T>C	NM_001267550.1	NP_001254479.1:p.(Cys3720Arg)	NC_000002.11:g.179621045A>G	VUS	1 lab	1a96996998
1:197073298 ASPM G>A	1	197073298	197073298	G	A	ASPM	c.5083C>T	NM_018136.4	NP_060606.3:p.(Arg1695Cys)	NC_000001.10:g.197073298G>A	VUS	1 lab	1a99845af7
16:88798256 PIEZO1 G>A	16	88798256	88798256	G	A	PIEZO1	c.3054C>T	NM_001142864.4	NP_001136336.2:p.(His1018=)	NC_000016.9:g.88798256G>A	(Likely) benign	1 lab	1a9a73097b
16:78312497 WWOX C>A	16	78312497	78312497	C	A	WWOX	c.517-108260C>A	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78312497C>A	(Likely) benign	1 lab	e46fe8f93b
16:88889114 GALNS A>G	16	88889114	88889114	A	G	GALNS	c.1265T>C	NM_001323544.1	NP_001310473.1:p.(Ile422Thr)	NC_000016.9:g.88889114A>G	VUS	1 lab	1a9cfb7af4
6:30672364 MDC1 G>A	6	30672364	30672364	G	A	MDC1	c.4596C>T	NM_014641.3	NP_055456.2:p.(Pro1532=)	NC_000006.11:g.30672364G>A	(Likely) benign	1 lab	1a9d0f09e3
X:18230695 BEND2 T>C	X	18230695	18230695	T	C	BEND2	c.482A>G	NM_153346.4	NP_699177.2:p.(Tyr161Cys)	NC_000023.10:g.18230695T>C	(Likely) benign	1 lab	1a9e06d245
15:42160355 SPTBN5 C>T	15	42160355	42160355	C	T	SPTBN5	c.6119G>A	NM_016642.4	NP_057726.4:p.(Arg2040Gln)	NC_000015.9:g.42160355C>T	(Likely) benign	1 lab	1a9e940e2a
20:57429384 GNAS A>G	20	57429384	57429384	A	G	GNAS	c.877A>G	NM_001077490.2	NP_001070958.1:p.(Arg293Gly)	NC_000020.10:g.57429384A>G	(Likely) benign	1 lab	1aa067f084
17:76993330 CANT1 C>G	17	76993330	76993330	C	G	CANT1	c.375G>C	NM_138793.3	NP_620148.1:p.(Trp125Cys)	NC_000017.10:g.76993330C>G	(Likely) pathogenic	1 lab	1aa1173281
16:2106722 TSC2 CCT>C	16	2106722	2106726	CCT	C	TSC2	c.729_730del	NM_000548.5	NP_000539.2:p.(Cys244SerfsTer93)	NC_000016.9:g.2106725_2106726del	(Likely) pathogenic	1 lab	1aa192f89e
2:179453379 TTN C>T	2	179453379	179453379	C	T	TTN	c.63073G>A	NM_001267550.1	NP_001254479.1:p.(Val21025Ile)	NC_000002.11:g.179453379C>T	VUS	1 lab	1aa36f4945
3:113563350 GRAMD1C G>A	3	113563350	113563350	G	A	GRAMD1C	c.28G>A	NM_017577.5	NP_060047.3:p.(Val10Met)	NC_000003.11:g.113563350G>A	(Likely) benign	1 lab	1aa47d39ca
16:223597 HBA2 T>C	16	223597	223597	T	C	HBA2	c.427T>C	NM_000517.6	NP_000508.1:p.(Ter143GlnextTer31)	NC_000016.9:g.223597T>C	(Likely) pathogenic	1 lab	1aa5f40abc
17:29653117 NF1 G>GC	17	29653117	29653118	G	GC	NF1	c.5053dup	NM_000267.3	NP_000258.1:p.(Leu1685ProfsTer12)	NC_000017.10:g.29653118dup	(Likely) pathogenic	1 lab	1aa60fcf6f
14:105410099 AHNAK2 G>C	14	105410099	105410099	G	C	AHNAK2	c.11689C>G	NM_138420.3	NP_612429.2:p.(Pro3897Ala)	NC_000014.8:g.105410099G>C	VUS	1 lab	1aa798a5bb
17:74287270 QRICH2 G>A	17	74287270	74287270	G	A	QRICH2	c.3040C>T	NM_032134.2	NP_115510.1:p.(Arg1014Cys)	NC_000017.10:g.74287270G>A	VUS	1 lab	1aa979d604
3:52825553 ITIH1 G>A	3	52825553	52825553	G	A	ITIH1	c.2515G>A	NM_002215.3	NP_002206.2:p.(Gly839Ser)	NC_000003.11:g.52825553G>A	(Likely) benign	1 lab	1aaaa7ca9b
9:32542793 TOPORS G>T	9	32542793	32542793	G	T	TOPORS	c.1730C>A	NM_005802.4	NP_005793.2:p.(Ser577Tyr)	NC_000009.11:g.32542793G>T	(Likely) benign	1 lab	1aab9226be
14:23855232 MYH6 G>A	14	23855232	23855232	G	A	MYH6	c.5068C>T	NM_002471.3	NP_002462.2:p.(Leu1690=)	NC_000014.8:g.23855232G>A	(Likely) benign	1 lab	1aae0c31a8
3:119134658 ARHGAP31 G>A	3	119134658	119134658	G	A	ARHGAP31	c.3882G>A	NM_020754.3	NP_065805.2:p.(Ser1294=)	NC_000003.11:g.119134658G>A	(Likely) benign	1 lab	1aae5b4f8d
8:10469110 RP1L1 G>A	8	10469110	10469110	G	A	RP1L1	c.2498C>T	NM_178857.5	NP_849188.4:p.(Pro833Leu)	NC_000008.10:g.10469110G>A	(Likely) benign	1 lab	1aaeed19da
11:124746209 ROBO3 G>A	11	124746209	124746209	G	A	ROBO3	c.2632G>A	NM_022370.3	NP_071765.2:p.(Ala878Thr)	NC_000011.9:g.124746209G>A	(Likely) benign	1 lab	1aafba9d62
15:25602006 UBE3A C>T	15	25602006	25602006	C	T	UBE3A	c.1731G>A	NM_130838.1	NP_570853.1:p.(Trp577Ter)	NC_000015.9:g.25602006C>T	(Likely) pathogenic	1 lab	1ab06c6816
4:151753107 LRBA A>C	4	151753107	151753107	A	C	LRBA	c.4591T>G	NM_001199282.2	NP_001186211.2:p.(Phe1531Val)	NC_000004.11:g.151753107A>C	VUS	1 lab	1ab34288bc
7:156584168 LMBR1 GT>G	7	156584168	156584169	GT	G	LMBR1	c.423+4914del	NM_022458.4	NP_071903.2:p.?	NC_000007.13:g.156584169del	VUS	1 lab	1ab3e6a8e6
6:73904448 KCNQ5 G>A	6	73904448	73904448	G	A	KCNQ5	c.2167G>A	NM_001160133.2	NP_001153605.1:p.(Ala723Thr)	NC_000006.11:g.73904448G>A	(Likely) benign	1 lab	e473ceffc9
5:122135500 SNX2 G>T	5	122135500	122135500	G	T	SNX2	c.340G>T	NM_003100.4	NP_003091.2:p.(Glu114Ter)	NC_000005.9:g.122135500G>T	VUS	1 lab	1ab85d8a01
11:63978123 FERMT3 A>G	11	63978123	63978123	A	G	FERMT3	c.201A>G	NM_178443.2	NP_848537.1:p.(Glu67=)	NC_000011.9:g.63978123A>G	(Likely) benign	1 lab	1ab9e36b21
5:78181612 ARSB G>A	5	78181612	78181612	G	A	ARSB	c.937C>T	NM_000046.4	NP_000037.2:p.(Pro313Ser)	NC_000005.9:g.78181612G>A	(Likely) pathogenic	1 lab	1aba1c41fc
X:153588004 FLNA G>A	X	153588004	153588004	G	A	FLNA	c.3990C>T	NM_001110556.2	NP_001104026.1:p.(Ser1330=)	NC_000023.10:g.153588004G>A	(Likely) benign	1 lab	1aba255f76
17:29508761 NF1 G>T	17	29508761	29508761	G	T	NF1	c.688G>T	NM_000267.3	NP_000258.1:p.(Glu230Ter)	NC_000017.10:g.29508761G>T	(Likely) pathogenic	1 lab	1abc7c1ae0
17:40716103 COASY C>A	17	40716103	40716103	C	A	COASY	c.825C>A	NM_025233.6	NP_079509.5:p.(Pro275=)	NC_000017.10:g.40716103C>A	(Likely) benign	1 lab	1abdc9fa45
11:6643298 DCHS1 G>C	11	6643298	6643298	G	C	DCHS1				NC_000011.9:g.6643298G>C	(Likely) benign	1 lab	1abf07de8b
14:23893186 MYH7 T>C	14	23893186	23893186	T	C	MYH7	c.2852A>G	NM_000257.4	NP_000248.2:p.(Lys951Arg)	NC_000014.8:g.23893186T>C	VUS	1 lab	e474864fef
18:29078224 DSG2 A>G	18	29078224	29078224	A	G	DSG2	c.10A>G	NM_001943.3	NP_001934.2:p.(Ser4Gly)	NC_000018.9:g.29078224A>G	(Likely) benign	1 lab	1ac0efd7e0
19:6751226 TRIP10 C>G	19	6751226	6751226	C	G	TRIP10	c.1671C>G	NM_001288963.1	NP_001275892.1:p.(Pro557=)	NC_000019.9:g.6751226C>G	(Likely) benign	1 lab	1ac1b0f72c
12:56397802 SUOX C>T	12	56397802	56397802	C	T	SUOX	c.629C>T	NM_000456.2	NP_000447.2:p.(Pro210Leu)	NC_000012.11:g.56397802C>T	(Likely) benign	1 lab	1ac213b097
8:42174269 IKBKB C>T	8	42174269	42174269	C	T	IKBKB	c.795C>T	NM_001242778.1	NP_001229707.1:p.(Thr265=)	NC_000008.10:g.42174269C>T	(Likely) benign	1 lab	1ac3e0e267
3:136152451 STAG1 T>C	3	136152451	136152451	T	C	STAG1	c.1597A>G	NM_005862.3	NP_005853.2:p.(Ile533Val)	NC_000003.11:g.136152451T>C	(Likely) benign	1 lab	1ac56487c1
1:97544533 DPYD T>TAAC	1	97544533	97544537	T	TAAC	DPYD	c.3074_3076dup	NM_000110.4	NP_000101.2:p.(Ter1026CysextTer1)	NC_000001.10:g.97544535_97544537dup	VUS	1 lab	e474e469f3
19:17086023 MISSING C>T	19	17086023	17086023	C	T	MISSING				NC_000019.9:g.17086023C>T	VUS	1 lab	1ac6b99fe4
19:39071144 RYR1 G>A	19	39071144	39071144	G	A	RYR1	c.14646G>A	NM_000540.2	NP_000531.2:p.(Thr4882=)	NC_000019.9:g.39071144G>A	VUS	1 lab	1ac6e00f91
6:157099768 ARID1B C>T	6	157099768	157099768	C	T	ARID1B	c.705C>T	NM_001346813.1	NP_001333742.1:p.(Gly235=)	NC_000006.11:g.157099768C>T	(Likely) benign	1 lab	1ac7b3428f
3:3188205 TRNT1 T>G	3	3188205	3188205	T	G	TRNT1	c.700T>G	NM_182916.3	NP_886552.3:p.(Ser234Ala)	NC_000003.11:g.3188205T>G	VUS	1 lab	1ac7b362bb
2:179587530 TTN T>G	2	179587530	179587530	T	G	TTN	c.18364A>C	NM_133378.4	NP_596869.4:p.(Thr6122Pro)	NC_000002.11:g.179587530T>G	VUS	1 lab	e4761faf19
X:128624133 SMARCA1 G>A	X	128624133	128624133	G	A	SMARCA1	c.1852C>T	NM_003069.4	NP_003060.2:p.(Arg618Cys)	NC_000023.10:g.128624133G>A	VUS	1 lab	1acd098f58
17:29557895 NF1 TG>T	17	29557895	29557898	TG	T	NF1	c.3152del	NM_001042492.3	NP_001035957.1:p.(Gly1051GlufsTer11)	NC_000017.10:g.29557898del	(Likely) pathogenic	1 lab	1acd0cbc7f
X:153581655 FLNA G>A	X	153581655	153581655	G	A	FLNA	c.6022+9C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153581655G>A	(Likely) benign	1 lab	1ad17f31be
X:65393610 HEPH G>T	X	65393610	65393610	G	T	HEPH	c.754G>T	NM_138737.4	NP_620074.3:p.(Gly252Cys)	NC_000023.10:g.65393610G>T	VUS	1 lab	1ad1fc4354
2:84936563 DNAH6 C>T	2	84936563	84936563	C	T	DNAH6	c.9145C>T	NM_001370.1	NP_001361.1:p.(Arg3049Trp)	NC_000002.11:g.84936563C>T	VUS	1 lab	1ad474cdea
1:201285759 PKP1 A>G	1	201285759	201285759	A	G	PKP1	c.780=	NM_000299.4	NP_000290.2:p.(Lys260=)	NC_000001.10:g.201285759A>G	(Likely) benign	1 lab	e477737bd1
22:24765252 SPECC1L G>A	22	24765252	24765252	G	A	SPECC1L	c.3051G>A	NM_015330.4	NP_056145.4:p.(Leu1017=)	NC_000022.10:g.24765252G>A	(Likely) benign	1 lab	1ad698e43d
19:36583661 WDR62 C>T	19	36583661	36583661	C	T	WDR62	c.2281C>T	NM_001083961.1	NP_001077430.1:p.(His761Tyr)	NC_000019.9:g.36583661C>T	(Likely) benign	1 lab	1ada1f4aea
17:44594555 ARL17A C>T	17	44594555	44594555	C	T	ARL17A	c.304G>A	NM_016632.2	NP_057716.2:p.(Gly102Arg)	NC_000017.10:g.44594555C>T	(Likely) benign	1 lab	1adaf53ac1
16:2126496 TSC2 T>G	16	2126496	2126496	T	G	TSC2	c.2747T>G	NM_000548.3	NP_000539.2:p.(Leu916Arg)	NC_000016.9:g.2126496T>G	(Likely) pathogenic	1 lab	1adc9a032d
7:149557476 ZNF862 C>A	7	149557476	149557476	C	A	ZNF862	c.1227C>A	NM_001099220.2	NP_001092690.1:p.(Asn409Lys)	NC_000007.13:g.149557476C>A	(Likely) benign	1 lab	1add1d8a4d
16:57993805 CNGB1 T>C	16	57993805	57993805	T	C	CNGB1	c.748A>G	NM_001297.4	NP_001288.3:p.(Arg250Gly)	NC_000016.9:g.57993805T>C	(Likely) benign	1 lab	1add366cbf
2:212293207 ERBB4 A>G	2	212293207	212293207	A	G	ERBB4	c.2645T>C	NM_005235.2	NP_005226.1:p.(Met882Thr)	NC_000002.11:g.212293207A>G	VUS	1 lab	1ade1ade57
X:25031338 ARX C>T	X	25031338	25031338	C	T	ARX	c.774G>A	NM_139058.2	NP_620689.1:p.(Ala258=)	NC_000023.10:g.25031338C>T	(Likely) benign	1 lab	1ade86c9f0
17:7751056 KDM6B GC>G	17	7751056	7751058	GC	G	KDM6B	c.1452del	NM_001348716.2	NP_001335645.1:p.(Trp485GlyfsTer2)	NC_000017.10:g.7751058del	(Likely) pathogenic	1 lab	1adf90f897
17:80887384 TBCD G>A	17	80887384	80887384	G	A	TBCD	c.2991+8G>A	NM_005993.4	NP_005984.3:p.?	NC_000017.10:g.80887384G>A	(Likely) benign	1 lab	1adfbaf999
6:144832079 UTRN G>T	6	144832079	144832079	G	T	UTRN	c.4765-1G>T	NM_007124.2	NP_009055.2:p.?	NC_000006.11:g.144832079G>T	VUS	1 lab	1adfbf2689
5:13754416 DNAH5 T>A	5	13754416	13754416	T	A	DNAH5	c.10451A>T	NM_001369.2	NP_001360.1:p.(His3484Leu)	NC_000005.9:g.13754416T>A	VUS	1 lab	1ae062c03e
2:210557395 MAP2 G>C	2	210557395	210557395	G	C	MAP2	c.501G>C	NM_002374.3	NP_002365.3:p.(Leu167Phe)	NC_000002.11:g.210557395G>C	(Likely) benign	1 lab	1ae1bbd733
1:3319562 PRDM16 G>A	1	3319562	3319562	G	A	PRDM16	c.884G>A	NM_022114.3	NP_071397.3:p.(Ser295Asn)	NC_000001.10:g.3319562G>A	VUS	1 lab	1ae251b21e
22:24909354 UPB1 G>T	22	24909354	24909354	G	T	UPB1	c.522G>T	NM_016327.2	NP_057411.1:p.(Gly174=)	NC_000022.10:g.24909354G>T	(Likely) benign	1 lab	1ae2cc8066
8:20054983 ATP6V1B2 T>G	8	20054983	20054983	T	G	ATP6V1B2	c.66T>G	NM_001693.3	NP_001684.2:p.(Gly22=)	NC_000008.10:g.20054983T>G	(Likely) benign	1 lab	1ae43aea64
17:29576126 NF1 T>C	17	29576126	29576126	T	C	NF1	c.4099T>C	NM_000267.3	NP_000258.1:p.(Cys1367Arg)	NC_000017.10:g.29576126T>C	VUS	1 lab	1ae5af57ef
15:62219335 VPS13C G>A	15	62219335	62219335	G	A	VPS13C	c.6471C>T	NM_001018088.2	NP_001018098.1:p.(Leu2157=)	NC_000015.9:g.62219335G>A	(Likely) benign	1 lab	1ae5f79544
1:150525721 ADAMTSL4 G>A	1	150525721	150525721	G	A	ADAMTSL4	c.426G>A	NM_001288608.1	NP_001275537.1:p.(Ala142=)	NC_000001.10:g.150525721G>A	(Likely) benign	1 lab	1ae67d85c5
5:142586942 ARHGAP26 A>G	5	142586942	142586942	A	G	ARHGAP26	c.2168A>G	NM_015071.6	NP_055886.1:p.(His723Arg)	NC_000005.9:g.142586942A>G	VUS	1 lab	1ae7795ba6
17:17700029 RAI1 G>T	17	17700029	17700029	G	T	RAI1	c.3767G>T	NM_030665.3	NP_109590.3:p.(Gly1256Val)	NC_000017.10:g.17700029G>T	(Likely) benign	1 lab	1ae9a4b78a
18:21140340 NPC1 C>A	18	21140340	21140340	C	A	NPC1	c.736G>T	NM_000271.4	NP_000262.2:p.(Val246Phe)	NC_000018.9:g.21140340C>A	(Likely) benign	1 lab	1aea0e3412
1:27697181 FCN3 A>G	1	27697181	27697181	A	G	FCN3	c.564T>C	NM_003665.2	NP_003656.2:p.(Gly188=)	NC_000001.10:g.27697181A>G	(Likely) benign	1 lab	1aecbb4ec5
12:133365751 GOLGA3 G>A	12	133365751	133365751	G	A	GOLGA3	c.2673C>T	NM_005895.3	NP_005886.2:p.(His891=)	NC_000012.11:g.133365751G>A	(Likely) benign	1 lab	1af0d54c54
11:44297031 ALX4 C>T	11	44297031	44297031	C	T	ALX4	c.644G>A	NM_021926.4	NP_068745.2:p.(Arg215Gln)	NC_000011.9:g.44297031C>T	VUS	1 lab	1af25eb32e
6:170168222 ERMARD T>C	6	170168222	170168222	T	C	ERMARD	c.1014T>C	NM_018341.2	NP_060811.1:p.(Asp338=)	NC_000006.11:g.170168222T>C	(Likely) benign	1 lab	1af3549155
2:179408251 TTN C>G	2	179408251	179408251	C	G	TTN	c.96449G>C	NM_001267550.1	NP_001254479.1:p.(Arg32150Thr)	NC_000002.11:g.179408251C>G	VUS	1 lab	1af65da327
17:56348081 MPO C>T	17	56348081	56348081	C	T	MPO	c.2174G>A	NM_000250.1	NP_000241.1:p.(Arg725Gln)	NC_000017.10:g.56348081C>T	(Likely) benign	1 lab	1af67fbc8d
10:88466433 LDB3 G>A	10	88466433	88466433	G	A	LDB3	c.1042G>A	NM_007078.2	NP_009009.1:p.(Ala348Thr)	NC_000010.10:g.88466433G>A	(Likely) benign	1 lab	1af9505e28
3:45965190 FYCO1 G>A	3	45965190	45965190	G	A	FYCO1	c.4319C>T	NM_024513.3	NP_078789.2:p.(Thr1440Ile)	NC_000003.11:g.45965190G>A	(Likely) benign	1 lab	1afb2d02fc
11:77850603 ALG8 C>G	11	77850603	77850603	C	G	ALG8	c.32G>C	NM_001007027.3	NP_001007028.1:p.(Gly11Ala)	NC_000011.9:g.77850603C>G	(Likely) benign	1 lab	e4799e81ac
4:657975 PDE6B C>G	4	657975	657975	C	G	PDE6B	c.2094C>G	NM_000283.3	NP_000274.2:p.(Tyr698Ter)	NC_000004.11:g.657975C>G	(Likely) pathogenic	1 lab	1afe59662e
19:36211753 KMT2B G>A	19	36211753	36211753	G	A	KMT2B	c.1504G>A	NM_014727.2	NP_055542.1:p.(Ala502Thr)	NC_000019.9:g.36211753G>A	(Likely) benign	1 lab	1afef9edef
10:102770585 PDZD7 A>T	10	102770585	102770585	A	T	PDZD7	c.2061T>A	NM_001195263.1	NP_001182192.1:p.(Asp687Glu)	NC_000010.10:g.102770585A>T	(Likely) benign	1 lab	1aff74d33a
3:49569415 DAG1 G>A	3	49569415	49569415	G	A	DAG1	c.1471G>A	NM_001165928.3	NP_001159400.2:p.(Gly491Arg)	NC_000003.11:g.49569415G>A	(Likely) benign	1 lab	1affa59d5d
15:72190048 MYO9A C>G	15	72190048	72190048	C	G	MYO9A	c.4796G>C	NM_006901.4	NP_008832.2:p.(Arg1599Pro)	NC_000015.9:g.72190048C>G	VUS	1 lab	1b005d51cf
14:58955364 KIAA0586 G>A	14	58955364	58955364	G	A	KIAA0586	c.3553G>A	NM_001329943.2	NP_001316872.1:p.(Glu1185Lys)	NC_000014.8:g.58955364G>A	VUS	1 lab	1b02573554
X:31785086 DMD Ref too long to show for this DEL>A	X	31785086	32009172	Ref too long to show for this DEL	A	DMD	c.6439-22539_7542+6990del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31785089_32009172del	(Likely) pathogenic	1 lab	e47a2f00c2
X:38229102 OTC T>C	X	38229102	38229102	T	C	OTC	c.270T>C	NM_000531.5	NP_000522.3:p.(Ser90=)	NC_000023.10:g.38229102T>C	(Likely) benign	1 lab	1b04945e5b
22:25603018 CRYBB3 G>A	22	25603018	25603018	G	A	CRYBB3	c.475G>A	NM_004076.4	NP_004067.1:p.(Val159Ile)	NC_000022.10:g.25603018G>A	(Likely) benign	1 lab	1b0548e40d
15:49867232 FAM227B C>T	15	49867232	49867232	C	T	FAM227B	c.621G>A	NM_152647.2	NP_689860.2:p.(Trp207Ter)	NC_000015.9:g.49867232C>T	VUS	1 lab	1b055e3d7c
5:140062786 HARS1 GA>G	5	140062786	140062787	GA	G	HARS1	c.198del	NM_002109.6	NP_002100.2:p.(Arg68GlyfsTer12)	NC_000005.9:g.140062787del	(Likely) pathogenic	1 lab	1b08217c52
16:89347064 ANKRD11 C>T	16	89347064	89347064	C	T	ANKRD11	c.5886G>A	NM_001256182.1	NP_001243111.1:p.(Leu1962=)	NC_000016.9:g.89347064C>T	(Likely) benign	1 lab	1b096718f3
20:61910329 ARFGAP1 C>T	20	61910329	61910329	C	T	ARFGAP1	c.609C>T	NM_001281482.1	NP_001268411.1:p.(Ala203=)	NC_000020.10:g.61910329C>T	(Likely) benign	1 lab	1b09f27aa9
8:38109471 DDHD2 C>T	8	38109471	38109471	C	T	DDHD2	c.1386C>T	NM_015214.2	NP_056029.2:p.(Asn462=)	NC_000008.10:g.38109471C>T	(Likely) benign	1 lab	1b0a1c6fef
7:82580503 PCLO T>C	7	82580503	82580503	T	C	PCLO	c.9401A>G	NM_033026.5	NP_149015.2:p.(His3134Arg)	NC_000007.13:g.82580503T>C	(Likely) benign	1 lab	1b0c6724de
3:9488838 SETD5 A>AACTCT	3	9488838	9488839	A	AACTCT	SETD5	c.1629_1630insACTCT	NM_001080517.3	NP_001073986.1:p.(Glu544ThrfsTer44)	NC_000003.11:g.9488838_9488839insACTCT	(Likely) pathogenic	1 lab	e47c7646cc
17:39921201 JUP C>T	17	39921201	39921201	C	T	JUP	c.1028G>A	NM_021991.2	NP_068831.1:p.(Ser343Asn)	NC_000017.10:g.39921201C>T	(Likely) benign	1 lab	1b0e4dd866
11:1272724 MUC5B G>C	11	1272724	1272724	G	C	MUC5B	c.14614G>C	NM_002458.2	NP_002449.2:p.(Gly4872Arg)	NC_000011.9:g.1272724G>C	(Likely) benign	1 lab	1b0e79cfea
17:73944442 ACOX1 C>A	17	73944442	73944442	C	A	ACOX1	c.1825G>T	NM_004035.7	NP_004026.2:p.(Ala609Ser)	NC_000017.10:g.73944442C>A	VUS	1 lab	e480a8dbae
2:63665010 WDPCP G>A	2	63665010	63665010	G	A	WDPCP	c.8C>T	NM_001042692.3	NP_001036157.1:p.(Ser3Leu)	NC_000002.11:g.63665010G>A	VUS	1 lab	1b10659dc2
2:175450251 WIPF1 C>T	2	175450251	175450251	C	T	WIPF1	c.51G>A	NM_001077269.1	NP_001070737.1:p.(Leu17=)	NC_000002.11:g.175450251C>T	(Likely) benign	1 lab	1b109d8a40
X:153577332 FLNA C>T	X	153577332	153577332	C	T	FLNA	c.7829G>A	NM_001110556.2	NP_001104026.1:p.(Gly2610Asp)	NC_000023.10:g.153577332C>T	VUS	1 lab	1b11018d7b
15:40939193 KNL1 G>A	15	40939193	40939193	G	A	KNL1	c.6093G>A	NM_170589.4	NP_733468.3:p.(Arg2031=)	NC_000015.9:g.40939193G>A	(Likely) benign	1 lab	1b128101e7
1:186088994 HMCN1 G>T	1	186088994	186088994	G	T	HMCN1	c.12074G>T	NM_031935.2	NP_114141.2:p.(Gly4025Val)	NC_000001.10:g.186088994G>T	VUS	1 lab	1b12caa21c
2:179395958 TTN TG>CA	2	179395958	179395959	TG	CA	TTN	c.105383_105384inv	NM_001267550.1	NP_001254479.1:p.(Ala35128Val)	NC_000002.11:g.179395958_179395959inv	VUS	1 lab	1b14c41086
3:145790424 PLOD2 A>T	3	145790424	145790424	A	T	PLOD2	c.1772T>A	NM_182943.2	NP_891988.1:p.(Ile591Lys)	NC_000003.11:g.145790424A>T	VUS	1 lab	1b1596866b
11:8111218 TUB C>A	11	8111218	8111218	C	A	TUB	c.255+10C>A	NM_003320.4	NP_003311.2:p.?	NC_000011.9:g.8111218C>A	(Likely) benign	1 lab	1b17972922
9:139094845 LHX3 G>A	9	139094845	139094845	G	A	LHX3	c.41C>T	NM_014564.4	NP_055379.1:p.(Ala14Val)	NC_000009.11:g.139094845G>A	VUS	1 lab	1b18eadff1
12:49448156 KMT2D G>A	12	49448156	49448156	G	A	KMT2D	c.444C>T	NM_003482.3	NP_003473.3:p.(Gly148=)	NC_000012.11:g.49448156G>A	VUS	1 lab	1b193f788f
20:57599036 TUBB1 C>T	20	57599036	57599036	C	T	TUBB1	c.554C>T	NM_030773.3	NP_110400.1:p.(Ala185Val)	NC_000020.10:g.57599036C>T	VUS	1 lab	1b1a1ab99c
2:27593155 EIF2B4 G>A	2	27593155	27593155	G	A	EIF2B4	c.27C>T	NM_001034116.1	NP_001029288.1:p.(Arg9=)	NC_000002.11:g.27593155G>A	(Likely) benign	1 lab	1b1a7ff761
11:35016499 PDHX C>G	11	35016499	35016499	C	G	PDHX	c.1286C>G	NM_003477.3	NP_003468.2:p.(Thr429Ser)	NC_000011.9:g.35016499C>G	(Likely) benign	1 lab	e485102a2f
6:33419635 SYNGAP1 G>C	6	33419635	33419635	G	C	SYNGAP1	c.3984G>C	NM_006772.2	NP_006763.2:p.(Arg1328=)	NC_000006.11:g.33419635G>C	(Likely) benign	1 lab	1b1e630207
18:7009329 LAMA1 G>C	18	7009329	7009329	G	C	LAMA1	c.3910C>G	NM_005559.3	NP_005550.2:p.(Pro1304Ala)	NC_000018.9:g.7009329G>C	(Likely) benign	1 lab	1b1e647bf7
1:110169405 AMPD2 C>T	1	110169405	110169405	C	T	AMPD2	c.751C>T	NM_001257360.1	NP_001244289.1:p.(Arg251Trp)	NC_000001.10:g.110169405C>T	(Likely) pathogenic	1 lab	1b1ea69e48
17:29683557 NF1 AC>A	17	29683557	29683563	AC	A	NF1	c.7701del	NM_001042492.3	NP_001035957.1:p.(Met2569Ter)	NC_000017.10:g.29683563del	(Likely) pathogenic	1 lab	1b1eedff34
1:120459102 NOTCH2 TGA>T	1	120459102	120459109	TGA	T	NOTCH2	c.6241_6242del	NM_024408.4	NP_077719.2:p.(Ser2081ThrfsTer23)	NC_000001.10:g.120459108_120459109del	(Likely) pathogenic	1 lab	1b208fe234
10:5037574 AKR1C2 C>T	10	5037574	5037574	C	T	AKR1C2	c.783G>A	NM_001354.5	NP_001345.1:p.(Leu261=)	NC_000010.10:g.5037574C>T	(Likely) benign	1 lab	1b21fb8737
7:151873458 KMT2C C>A	7	151873458	151873458	C	A	KMT2C	c.9080G>T	NM_170606.2	NP_733751.2:p.(Gly3027Val)	NC_000007.13:g.151873458C>A	VUS	1 lab	1b2235d077
6:42946499 PEX6 G>C	6	42946499	42946499	G	C	PEX6	c.390C>G	NM_000287.3	NP_000278.3:p.(Thr130=)	NC_000006.11:g.42946499G>C	(Likely) benign	1 lab	1b22d09c49
1:152329554 FLG2 A>G	1	152329554	152329554	A	G	FLG2	c.708T>C	NM_001014342.2	NP_001014364.1:p.(Gly236=)	NC_000001.10:g.152329554A>G	(Likely) benign	1 lab	1b23a25ad7
13:32945137 BRCA2 AAGAG>A	13	32945137	32945143	AAGAG	A	BRCA2	c.8535_8538del	NM_000059.4	NP_000050.3:p.(Glu2846LysfsTer16)	NC_000013.10:g.32945140_32945143del	(Likely) pathogenic	1 lab	e48e7af1c0
9:123301307 CDK5RAP2 T>C	9	123301307	123301307	T	C	CDK5RAP2	c.507+12A>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123301307T>C	(Likely) benign	1 lab	1b2434425d
10:88459066 LDB3 C>T	10	88459066	88459066	C	T	LDB3	c.787C>T	NM_001080116.1	NP_001073585.1:p.(Arg263Cys)	NC_000010.10:g.88459066C>T	VUS	1 lab	1b24c6be57
1:86361716 COL24A1 AGGC>A	1	86361716	86361719	AGGC	A	COL24A1	c.2862_2864del	NM_152890.7	NP_690850.2:p.(Pro955del)	NC_000001.10:g.86361717_86361719del	(Likely) pathogenic	1 lab	1b25010f0f
15:28419604 HERC2 G>A	15	28419604	28419604	G	A	HERC2	c.9994C>T	NM_004667.5	NP_004658.3:p.(Pro3332Ser)	NC_000015.9:g.28419604G>A	(Likely) benign	1 lab	1b2696444c
12:80936667 MISSING T>C	12	80936667	80936667	T	C	MISSING				NC_000012.11:g.80936667T>C	(Likely) benign	1 lab	1b27ea8392
22:17669226 ADA2 C>T	22	17669226	17669226	C	T	ADA2	c.1081+3G>A	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17669226C>T	(Likely) benign	1 lab	1b2c24f874
6:18139925 TPMT C>T	6	18139925	18139925	C	T	TPMT	c.390G>A	NM_001346817.1	NP_001333746.1:p.(Leu130=)	NC_000006.11:g.18139925C>T	(Likely) benign	1 lab	1b2dbb4e3e
21:27071131 JAM2 C>T	21	27071131	27071131	C	T	JAM2	c.537C>T	NM_021219.4	NP_067042.1:p.(Pro179=)	NC_000021.8:g.27071131C>T	(Likely) benign	1 lab	1b2dcc3b96
19:3770939 RAX2 G>A	19	3770939	3770939	G	A	RAX2	c.373C>T	NM_001319074.1	NP_001306003.1:p.(Arg125Trp)	NC_000019.9:g.3770939G>A	VUS	1 lab	1b2eb6e7b2
6:112457418 LAMA4 T>C	6	112457418	112457418	T	C	LAMA4	c.3321A>G	NM_001105206.2	NP_001098676.2:p.(Leu1107=)	NC_000006.11:g.112457418T>C	(Likely) benign	1 lab	1b2ef54b9f
22:18609642 TUBA8 C>T	22	18609642	18609642	C	T	TUBA8	c.897C>T	NM_018943.2	NP_061816.1:p.(Asn299=)	NC_000022.10:g.18609642C>T	(Likely) benign	1 lab	1b30512e38
X:49087047 CACNA1F C>A	X	49087047	49087047	C	A	CACNA1F	c.546G>T	NM_005183.3	NP_005174.2:p.(Gln182His)	NC_000023.10:g.49087047C>A	(Likely) benign	1 lab	1b31190319
15:42980845 STARD9 T>C	15	42980845	42980845	T	C	STARD9	c.7069T>C	NM_020759.3	NP_065810.2:p.(Ser2357Pro)	NC_000015.9:g.42980845T>C	(Likely) benign	1 lab	1b31a8cf54
X:32360296 DMD G>C	X	32360296	32360296	G	C	DMD	c.5843C>G	NM_004006.3	NP_003997.2:p.(Thr1948Ser)	NC_000023.10:g.32360296G>C	VUS	1 lab	e496970426
X:19018032 ADGRG2 A>T	X	19018032	19018032	A	T	ADGRG2	c.2277T>A	NM_001079858.2	NP_001073327.1:p.(Asp759Glu)	NC_000023.10:g.19018032A>T	VUS	1 lab	1b327d5494
X:153581470 FLNA G>A	X	153581470	153581470	G	A	FLNA	c.6125C>T	NM_001110556.2	NP_001104026.1:p.(Ser2042Leu)	NC_000023.10:g.153581470G>A	VUS	1 lab	1b330631b6
10:75010692 MRPS16 C>T	10	75010692	75010692	C	T	MRPS16	c.332G>A	NM_016065.3	NP_057149.1:p.(Arg111Gln)	NC_000010.10:g.75010692C>T	VUS	1 lab	1b3379200f
19:40366247 FCGBP C>T	19	40366247	40366247	C	T	FCGBP	c.13987G>A	NM_003890.2	NP_003881.2:p.(Gly4663Ser)	NC_000019.9:g.40366247C>T	(Likely) benign	1 lab	1b3596656f
6:32006248 CYP21A2 C>T	6	32006248	32006248	C	T	CYP21A2	c.49C>T	NM_000500.9	NP_000491.4:p.(Arg17Cys)	NC_000006.11:g.32006248C>T	VUS	1 lab	1b375060ab
17:77758452 CBX2 A>T	17	77758452	77758452	A	T	CBX2	c.1210A>T	NM_005189.2	NP_005180.1:p.(Met404Leu)	NC_000017.10:g.77758452A>T	(Likely) benign	1 lab	1b39aecf64
14:23888323 MYH7 T>TG	14	23888323	23888324	T	TG	MYH7	c.3972+62_3972+63insC	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23888323_23888324insG	(Likely) benign	1 lab	1b3b01f865
15:90191805 KIF7 G>T	15	90191805	90191805	G	T	KIF7	c.1124C>A	NM_198525.2	NP_940927.2:p.(Pro375Gln)	NC_000015.9:g.90191805G>T	VUS	1 lab	1b3b10442d
6:33153541 COL11A2 G>A	6	33153541	33153541	G	A	COL11A2	c.813C>T	NM_080680.2	NP_542411.2:p.(Leu271=)	NC_000006.11:g.33153541G>A	(Likely) benign	1 lab	1b3b5209f5
19:17691981 COLGALT1 C>G	19	17691981	17691981	C	G	COLGALT1	c.1602-5C>G	NM_024656.4	NP_078932.2:p.?	NC_000019.9:g.17691981C>G	(Likely) benign	1 lab	1b3c3bcb66
17:29541474 NF1 T>TA	17	29541474	29541475	T	TA	NF1	c.1399dup	NM_000267.3	NP_000258.1:p.(Thr467AsnfsTer3)	NC_000017.10:g.29541475dup	(Likely) pathogenic	1 lab	1b3c8d3840
1:235938375 LYST G>A	1	235938375	235938375	G	A	LYST	c.5472C>T	NM_001301365.1	NP_001288294.1:p.(Leu1824=)	NC_000001.10:g.235938375G>A	(Likely) benign	1 lab	1b406b295f
11:85366762 TMEM126A A>G	11	85366762	85366762	A	G	TMEM126A	c.395+10A>G	NM_032273.4	NP_115649.1:p.?	NC_000011.9:g.85366762A>G	(Likely) benign	1 lab	e49818a5c8
17:80039877 FASN G>C	17	80039877	80039877	G	C	FASN	c.6163+8C>G	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80039877G>C	(Likely) benign	1 lab	1b417ca5e8
18:59815517 PIGN CTTCA>C	18	59815517	59815523	CTTCA	C	PIGN	c.600_603del	NM_176787.5	NP_789744.1:p.(Asn200LysfsTer4)	NC_000018.9:g.59815520_59815523del	(Likely) pathogenic	1 lab	1b418fdc0b
21:47627336 LSS C>T	21	47627336	47627336	C	T	LSS	c.1467+6G>A	NM_002340.6	NP_002331.3:p.?	NC_000021.8:g.47627336C>T	(Likely) benign	1 lab	1b41e2eccc
19:35530041 SCN1B A>G	19	35530041	35530041	A	G	SCN1B	c.370A>G	NM_001321605.1	NP_001308534.1:p.(Ile124Val)	NC_000019.9:g.35530041A>G	VUS	1 lab	1b42833702
14:94933713 SERPINA9 C>G	14	94933713	94933713	C	G	SERPINA9	c.689G>C	NM_175739.3	NP_783866.2:p.(Trp230Ser)	NC_000014.8:g.94933713C>G	VUS	1 lab	1b42b6fadd
5:1422073 SLC6A3 C>T	5	1422073	1422073	C	T	SLC6A3	c.710G>A	NM_001044.4	NP_001035.1:p.(Arg237Gln)	NC_000005.9:g.1422073C>T	VUS	1 lab	1b46109355
22:32272191 DEPDC5 C>T	22	32272191	32272191	C	T	DEPDC5	c.3745C>T	NM_001242896.2	NP_001229825.1:p.(Arg1249Trp)	NC_000022.10:g.32272191C>T	VUS	1 lab	1b499c4b75
3:123419131 MYLK C>A	3	123419131	123419131	C	A	MYLK	c.3184G>T	NM_053025.3	NP_444253.3:p.(Ala1062Ser)	NC_000003.11:g.123419131C>A	(Likely) benign	1 lab	1b4a2bf0ea
5:89949740 ADGRV1 A>G	5	89949740	89949740	A	G	ADGRV1	c.4349A>G	NM_032119.4	NP_115495.3:p.(Lys1450Arg)	NC_000005.9:g.89949740A>G	VUS	1 lab	1b4b68e36f
16:20975118 DNAH3 C>T	16	20975118	20975118	C	T	DNAH3	c.9950G>A	NM_001347886.1	NP_001334815.1:p.(Arg3317His)	NC_000016.9:g.20975118C>T	VUS	1 lab	1b4d06a37e
12:132403140 MISSING T>G	12	132403140	132403140	T	G	MISSING				NC_000012.11:g.132403140T>G	(Likely) benign	1 lab	1b6cf54deb
15:43109244 TTBK2 C>T	15	43109244	43109244	C	T	TTBK2	c.589G>A	NM_173500.4	NP_775771.3:p.(Ala197Thr)	NC_000015.9:g.43109244C>T	VUS	1 lab	e49dccd713
11:64367325 SLC22A12 A>G	11	64367325	64367325	A	G	SLC22A12	c.1248A>G	NM_144585.4	NP_653186.2:p.(Ala416=)	NC_000011.9:g.64367325A>G	(Likely) benign	1 lab	e4a1135648
17:18023247 MYO15A TC>T	17	18023247	18023251	TC	T	MYO15A	c.1137del	NM_016239.4	NP_057323.3:p.(Tyr380MetfsTer64)	NC_000017.10:g.18023251del	(Likely) pathogenic	1 lab	1b50f3e505
2:152574027 NEB T>C	2	152574027	152574027	T	C	NEB	c.725A>G	NM_001271208.1	NP_001258137.1:p.(Tyr242Cys)	NC_000002.11:g.152574027T>C	VUS	1 lab	1b525957d9
5:127622458 FBN2 T>C	5	127622458	127622458	T	C	FBN2	c.6964A>G	NM_001999.3	NP_001990.2:p.(Ile2322Val)	NC_000005.9:g.127622458T>C	VUS	1 lab	1b528c6482
9:141012464 CACNA1B C>G	9	141012464	141012464	C	G	CACNA1B	c.5844C>G	NM_000718.3	NP_000709.1:p.(Pro1948=)	NC_000009.11:g.141012464C>G	(Likely) benign	1 lab	1b52f0756d
18:70209045 CBLN2 G>C	18	70209045	70209045	G	C	CBLN2	c.351C>G	NM_182511.4	NP_872317.1:p.(Phe117Leu)	NC_000018.9:g.70209045G>C	VUS	1 lab	1b53fe026d
11:117252587 CEP164 AAGGATGAGGGGAAGCATCCTCATG>A	11	117252587	117252621	AAGGATGAGGGGAAGCATCCTCATG	A	CEP164	c.1577+14_1577+37del	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117252598_117252621del	(Likely) benign	1 lab	1b5512840d
1:152284948 FLG G>A	1	152284948	152284948	G	A	FLG	c.2414C>T	NM_002016.1	NP_002007.1:p.(Ser805Phe)	NC_000001.10:g.152284948G>A	(Likely) benign	1 lab	1b557b6e01
14:105414464 AHNAK2 C>T	14	105414464	105414464	C	T	AHNAK2	c.7324G>A	NM_138420.3	NP_612429.2:p.(Val2442Met)	NC_000014.8:g.105414464C>T	(Likely) benign	1 lab	1b563c1f3b
11:48158649 PTPRJ C>T	11	48158649	48158649	C	T	PTPRJ	c.1968C>T	NM_002843.3	NP_002834.3:p.(Ser656=)	NC_000011.9:g.48158649C>T	(Likely) benign	1 lab	1b576033c7
1:226259095 H3F3A A>G	1	226259095	226259095	A	G	H3F3A				NC_000001.10:g.226259095A>G	VUS	1 lab	1b5952c9e0
18:56203252 ALPK2 AAAG>A	18	56203252	56203258	AAAG	A	ALPK2	c.4164_4166del	NM_052947.4	NP_443179.3:p.(Phe1389del)	NC_000018.9:g.56203256_56203258del	(Likely) benign	1 lab	1b5af7a325
2:179431589 TTN C>T	2	179431589	179431589	C	T	TTN	c.79270G>A	NM_001267550.2	NP_001254479.2:p.(Glu26424Lys)	NC_000002.11:g.179431589C>T	VUS	1 lab	e4a29e45b5
9:113205879 SVEP1 C>T	9	113205879	113205879	C	T	SVEP1	c.4585G>A	NM_153366.4	NP_699197.3:p.(Asp1529Asn)	NC_000009.11:g.113205879C>T	VUS	1 lab	1b5f908433
X:91132791 PCDH11X C>T	X	91132791	91132791	C	T	PCDH11X	c.1552C>T	NM_032968.4	NP_116750.1:p.(Arg518Cys)	NC_000023.10:g.91132791C>T	VUS	1 lab	1b611ad91f
12:132625547 DDX51 C>G	12	132625547	132625547	C	G	DDX51	c.1269G>C	NM_175066.4	NP_778236.2:p.(Met423Ile)	NC_000012.11:g.132625547C>G	(Likely) benign	1 lab	1b67124115
14:45645312 FANCM G>C	14	45645312	45645312	G	C	FANCM	c.3355G>C	NM_020937.2	NP_065988.1:p.(Asp1119His)	NC_000014.8:g.45645312G>C	(Likely) benign	1 lab	1b678ceb1e
18:56936459 RAX C>T	18	56936459	56936459	C	T	RAX	c.818G>A	NM_013435.2	NP_038463.2:p.(Ser273Asn)	NC_000018.9:g.56936459C>T	VUS	1 lab	1b6d452d9b
1:53676389 CPT2 C>G	1	53676389	53676389	C	G	CPT2	c.1043C>G	NM_000098.2	NP_000089.1:p.(Thr348Arg)	NC_000001.10:g.53676389C>G	VUS	1 lab	1b6dab5622
3:189838488 P3H2 C>T	3	189838488	189838488	C	T	P3H2	c.33G>A	NM_018192.4	NP_060662.2:p.(Leu11=)	NC_000003.11:g.189838488C>T	(Likely) benign	1 lab	1b6ee3af19
21:34022524 SYNJ1 C>T	21	34022524	34022524	C	T	SYNJ1	c.3124G>A	NM_203446.2	NP_982271.2:p.(Ala1042Thr)	NC_000021.8:g.34022524C>T	(Likely) benign	1 lab	1b707af481
15:82520575 EFL1 G>A	15	82520575	82520575	G	A	EFL1	c.1026C>T	NM_001322845.1	NP_001309774.1:p.(Asn342=)	NC_000015.9:g.82520575G>A	(Likely) benign	1 lab	1b70ebe27f
3:187416762 RTP2 C>G	3	187416762	187416762	C	G	RTP2	c.202G>C	NM_001004312.2	NP_001004312.2:p.(Ala68Pro)	NC_000003.11:g.187416762C>G	(Likely) benign	1 lab	1b7263edb6
19:49254538 FUT1 T>G	19	49254538	49254538	T	G	FUT1	c.1A>C	NM_000148.3	NP_000139.1:p.(Met1?)	NC_000019.9:g.49254538T>G	(Likely) pathogenic	1 lab	1b74df48ef
8:145008238 PLEC G>A	8	145008238	145008238	G	A	PLEC	c.1602C>T	NM_201380.3	NP_958782.1:p.(Ile534=)	NC_000008.10:g.145008238G>A	(Likely) benign	1 lab	1b7687274b
7:82545687 PCLO G>T	7	82545687	82545687	G	T	PCLO	c.11615C>A	NM_033026.5	NP_149015.2:p.(Thr3872Asn)	NC_000007.13:g.82545687G>T	VUS	1 lab	1b78de47a4
4:650669 PDE6B G>C	4	650669	650669	G	C	PDE6B	c.1114G>C	NM_000283.3	NP_000274.2:p.(Ala372Pro)	NC_000004.11:g.650669G>C	(Likely) benign	1 lab	1b7a770aad
16:11010306 CIITA G>A	16	11010306	11010306	G	A	CIITA	c.3055G>A	NM_001286402.1	NP_001273331.1:p.(Glu1019Lys)	NC_000016.9:g.11010306G>A	VUS	1 lab	1b7be47a1b
X:57620675 ZXDB G>A	X	57620675	57620675	G	A	ZXDB	c.2194G>A	NM_007157.3	NP_009088.1:p.(Val732Met)	NC_000023.10:g.57620675G>A	VUS	1 lab	1b7bf70ed9
12:49621950 TUBA1C G>A	12	49621950	49621950	G	A	TUBA1C	c.-336+1G>A	NM_001303115.1	NP_001290044.1:p.?	NC_000012.11:g.49621950G>A	VUS	1 lab	1b7ce21c2c
7:4008952 SDK1 G>C	7	4008952	4008952	G	C	SDK1	c.1610G>C	NM_152744.3	NP_689957.3:p.(Gly537Ala)	NC_000007.13:g.4008952G>C	VUS	1 lab	1b7dc93609
7:21745109 DNAH11 G>A	7	21745109	21745109	G	A	DNAH11				NC_000007.13:g.21745109G>A	(Likely) benign	1 lab	1b7e5959f2
17:29588758 NF1 T>C	17	29588758	29588758	T	C	NF1	c.4544T>C	NM_000267.3	NP_000258.1:p.(Phe1515Ser)	NC_000017.10:g.29588758T>C	VUS	1 lab	1b7efda1f5
22:32108739 PRR14L T>C	22	32108739	32108739	T	C	PRR14L	c.5086A>G	NM_173566.3	NP_775837.2:p.(Ile1696Val)	NC_000022.10:g.32108739T>C	(Likely) benign	1 lab	1b7f040345
2:179633669 TTN G>C	2	179633669	179633669	G	C	TTN	c.8903-9C>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179633669G>C	(Likely) benign	1 lab	1b80bb2968
3:49135789 QARS1 C>T	3	49135789	49135789	C	T	QARS1	c.2081G>A	NM_005051.2	NP_005042.1:p.(Arg694Gln)	NC_000003.11:g.49135789C>T	(Likely) benign	1 lab	1b810efe1b
X:114426431 RBMXL3 C>T	X	114426431	114426431	C	T	RBMXL3	c.2427C>T	NM_001145346.1	NP_001138818.1:p.(Asn809=)	NC_000023.10:g.114426431C>T	(Likely) benign	1 lab	1b823e0392
16:2124295 TSC2 ACAT>A	16	2124295	2124306	ACAT	A	TSC2	c.2459_2461del	NM_000548.5	NP_000539.2:p.(Ile820del)	NC_000016.9:g.2124304_2124306del	(Likely) pathogenic	1 lab	1b837a54f6
1:151316983 RFX5 C>T	1	151316983	151316983	C	T	RFX5	c.383G>A	NM_000449.3	NP_000440.1:p.(Arg128His)	NC_000001.10:g.151316983C>T	VUS	1 lab	1b83d3f1d1
11:76915143 MYO7A C>A	11	76915143	76915143	C	A	MYO7A	c.5349C>A	NM_000260.3	NP_000251.3:p.(Asp1783Glu)	NC_000011.9:g.76915143C>A	VUS	1 lab	1b8420ed14
12:108956526 ISCU A>AG	12	108956526	108956529	A	AG	ISCU	c.-58+17dup	NM_014301.4	NP_055116.1:p.?	NC_000012.11:g.108956529dup	(Likely) benign	1 lab	e4b3992718
4:110914495 EGF C>T	4	110914495	110914495	C	T	EGF	c.2827C>T	NM_001963.5	NP_001954.2:p.(Arg943Cys)	NC_000004.11:g.110914495C>T	(Likely) benign	1 lab	1b87ae8645
19:6720549 C3 G>A	19	6720549	6720549	G	A	C3	c.52C>T	NM_000064.2	NP_000055.2:p.(Pro18Ser)	NC_000019.9:g.6720549G>A	(Likely) benign	1 lab	1b896d2914
6:76617410 MYO6 A>T	6	76617410	76617410	A	T	MYO6	c.3265A>T	NM_004999.3	NP_004990.3:p.(Ile1089Phe)	NC_000006.11:g.76617410A>T	VUS	1 lab	1b8af6840e
6:33287816 DAXX CTCT>C	6	33287816	33287821	CTCT	C	DAXX	c.1434_1436del	NM_001141969.2	NP_001135441.1:p.(Glu480del)	NC_000006.11:g.33287819_33287821del	VUS	1 lab	1b8bf0231c
1:3102750 PRDM16 C>T	1	3102750	3102750	C	T	PRDM16	c.99C>T	NM_022114.3	NP_071397.3:p.(Ser33=)	NC_000001.10:g.3102750C>T	(Likely) benign	1 lab	1b98eb65bf
2:220348076 SPEG A>G	2	220348076	220348076	A	G	SPEG	c.5891A>G	NM_005876.4	NP_005867.3:p.(Glu1964Gly)	NC_000002.11:g.220348076A>G	(Likely) benign	1 lab	1b8ed5332e
1:3102887 PRDM16 C>T	1	3102887	3102887	C	T	PRDM16	c.236C>T	NM_022114.4	NP_071397.3:p.(Pro79Leu)	NC_000001.10:g.3102887C>T	VUS	1 lab	e4b5db7cf4
2:29293951 PCARE A>G	2	29293951	29293951	A	G	PCARE	c.3177T>C	NM_001029883.2	NP_001025054.1:p.(Pro1059=)	NC_000002.11:g.29293951A>G	(Likely) benign	1 lab	1b9248cb16
11:124756431 ROBO4 C>T	11	124756431	124756431	C	T	ROBO4	c.2723G>A	NM_019055.5	NP_061928.4:p.(Arg908Gln)	NC_000011.9:g.124756431C>T	VUS	1 lab	1b92dee1f3
15:49033889 CEP152 CTT>C	15	49033889	49033894	CTT	C	CEP152	c.4000_4001del	NM_001194998.2	NP_001181927.1:p.(Lys1334AspfsTer6)	NC_000015.9:g.49033893_49033894del	(Likely) pathogenic	1 lab	1b93471145
16:2112010 TSC2 G>A	16	2112010	2112010	G	A	TSC2	c.1257+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112010G>A	(Likely) pathogenic	1 lab	1b934d080a
18:8244195 PTPRM C>G	18	8244195	8244195	C	G	PTPRM	c.2440C>G	NM_001105244.1	NP_001098714.1:p.(Leu814Val)	NC_000018.9:g.8244195C>G	VUS	1 lab	1b937807d6
10:135180429 ECHS1 C>T	10	135180429	135180429	C	T	ECHS1	c.583G>A	NM_004092.3	NP_004083.3:p.(Gly195Ser)	NC_000010.10:g.135180429C>T	VUS	1 lab	1b937c0a45
19:5711919 LONP1 CCTT>C	19	5711919	5711925	CCTT	C	LONP1	c.730_732del	NM_004793.4	NP_004784.2:p.(Lys244del)	NC_000019.9:g.5711923_5711925del	(Likely) benign	1 lab	1b950fa2de
19:47259586 FKRP C>G	19	47259586	47259586	C	G	FKRP	c.879C>G	NM_001039885.2	NP_001034974.1:p.(Thr293=)	NC_000019.9:g.47259586C>G	(Likely) benign	1 lab	1b95a0c7b0
17:29661967 NF1 T>C	17	29661967	29661967	T	C	NF1	c.5861T>C	NM_000267.3	NP_000258.1:p.(Leu1954Pro)	NC_000017.10:g.29661967T>C	(Likely) pathogenic	1 lab	1b96944efd
7:82784275 PCLO G>A	7	82784275	82784275	G	A	PCLO	c.1682C>T	NM_033026.5	NP_149015.2:p.(Thr561Ile)	NC_000007.13:g.82784275G>A	(Likely) benign	1 lab	1b96d85b49
X:32509441 DMD T>A	X	32509441	32509441	T	A	DMD	c.2206A>T	NM_004010.3	NP_004001.1:p.(Thr736Ser)	NC_000023.10:g.32509441T>A	(Likely) benign	1 lab	1b97790801
10:13900840 FRMD4A G>A	10	13900840	13900840	G	A	FRMD4A	c.210+7C>T	NM_001318337.1	NP_001305266.1:p.?	NC_000010.10:g.13900840G>A	(Likely) benign	1 lab	1b9837728e
7:75609782 POR G>A	7	75609782	75609782	G	A	POR	c.492G>A	NM_000941.2	NP_000932.3:p.(Val164=)	NC_000007.13:g.75609782G>A	(Likely) benign	1 lab	1b994c00f6
16:15847252 MYH11 G>A	16	15847252	15847252	G	A	MYH11	c.1884C>T	NM_001040113.1	NP_001035202.1:p.(Asp628=)	NC_000016.9:g.15847252G>A	(Likely) benign	1 lab	1b9d31b69c
1:243468006 SDCCAG8 T>C	1	243468006	243468006	T	C	SDCCAG8	c.676-9T>C	NM_006642.4	NP_006633.1:p.?	NC_000001.10:g.243468006T>C	(Likely) benign	1 lab	1b9e685220
1:150069191 VPS45 CTT>C	1	150069191	150069207	CTT	C	VPS45	c.1493+3462_1493+3463del	NM_007259.5	NP_009190.2:p.?	NC_000001.10:g.150069206_150069207del	(Likely) benign	1 lab	1ba0d9e9b5
16:85701822 GSE1 G>T	16	85701822	85701822	G	T	GSE1	c.3207G>T	NM_014615.4	NP_055430.1:p.(Gln1069His)	NC_000016.9:g.85701822G>T	VUS	1 lab	1ba3f55f20
11:121016794 TECTA G>A	11	121016794	121016794	G	A	TECTA	c.4074G>A	NM_005422.2	NP_005413.2:p.(Thr1358=)	NC_000011.9:g.121016794G>A	(Likely) benign	1 lab	1ba6453f8b
X:39933693 BCOR G>A	X	39933693	39933693	G	A	BCOR	c.906C>T	NM_001123385.1	NP_001116857.1:p.(His302=)	NC_000023.10:g.39933693G>A	(Likely) benign	1 lab	1ba6a09f77
11:125853809 CDON C>T	11	125853809	125853809	C	T	CDON	c.2953G>A	NM_016952.5	NP_058648.4:p.(Ala985Thr)	NC_000011.9:g.125853809C>T	(Likely) benign	1 lab	e4b7dd7c9d
X:19443746 MAP3K15 C>T	X	19443746	19443746	C	T	MAP3K15	c.1342G>A	NM_001001671.3	NP_001001671.3:p.(Asp448Asn)	NC_000023.10:g.19443746C>T	(Likely) benign	1 lab	1ba85a1588
9:84607656 SPATA31D1 C>A	9	84607656	84607656	C	A	SPATA31D1	c.2271C>A	NM_001001670.2	NP_001001670.1:p.(His757Gln)	NC_000009.11:g.84607656C>A	(Likely) benign	1 lab	1ba9892762
9:123220809 CDK5RAP2 G>C	9	123220809	123220809	G	C	CDK5RAP2	c.2294C>G	NM_018249.5	NP_060719.4:p.(Pro765Arg)	NC_000009.11:g.123220809G>C	VUS	1 lab	1ba99df25c
16:88793186 PIEZO1 G>A	16	88793186	88793186	G	A	PIEZO1	c.3636C>T	NM_001142864.4	NP_001136336.2:p.(Leu1212=)	NC_000016.9:g.88793186G>A	(Likely) benign	1 lab	1baa081517
16:56362628 GNAO1 G>A	16	56362628	56362628	G	A	GNAO1	c.389G>A	NM_020988.3	NP_066268.1:p.(Arg130Gln)	NC_000016.9:g.56362628G>A	(Likely) benign	1 lab	e4b8590658
X:31792307 DMD G>C	X	31792307	31792307	G	C	DMD	c.6943C>G	NM_004010.3	NP_004001.1:p.(Pro2315Ala)	NC_000023.10:g.31792307G>C	(Likely) benign	1 lab	1babd16800
X:153461482 OPN1MW G>C	X	153461482	153461482	G	C	OPN1MW	c.1046G>C	NM_000513.2	NP_000504.1:p.(Ser349Thr)	NC_000023.10:g.153461482G>C	(Likely) benign	1 lab	1bac807915
19:3661916 PIP5K1C G>A	19	3661916	3661916	G	A	PIP5K1C	c.303C>T	NM_012398.2	NP_036530.1:p.(Asp101=)	NC_000019.9:g.3661916G>A	(Likely) benign	1 lab	1baf942ad7
1:36933220 CSF3R A>G	1	36933220	36933220	A	G	CSF3R	c.1897T>C	NM_156039.3	NP_724781.1:p.(Phe633Leu)	NC_000001.10:g.36933220A>G	(Likely) benign	1 lab	1bb272a069
19:6495787 TUBB4A G>A	19	6495787	6495787	G	A	TUBB4A	c.723C>T	NM_006087.4	NP_006078.2:p.(Arg241=)	NC_000019.9:g.6495787G>A	(Likely) benign	1 lab	1bb3831cab
3:52436810 BAP1 C>T	3	52436810	52436810	C	T	BAP1	c.1968G>A	NM_004656.2	NP_004647.1:p.(Lys656=)	NC_000003.11:g.52436810C>T	(Likely) benign	1 lab	1bb386ff6c
3:49163592 LAMB2 G>A	3	49163592	49163592	G	A	LAMB2	c.2152C>T	NM_002292.3	NP_002283.3:p.(Leu718=)	NC_000003.11:g.49163592G>A	(Likely) benign	1 lab	1bb5746cb8
X:39933972 BCOR C>G	X	39933972	39933972	C	G	BCOR	c.627G>C	NM_001123385.1	NP_001116857.1:p.(Ser209=)	NC_000023.10:g.39933972C>G	(Likely) benign	1 lab	1bb7577d15
11:110102764 RDX T>TA	11	110102764	110102770	T	TA	RDX	c.1588-7dup	NM_002906.3	NP_002897.1:p.?	NC_000011.9:g.110102770dup	(Likely) benign	1 lab	1bb781b759
X:48924857 CCDC120 C>T	X	48924857	48924857	C	T	CCDC120				NC_000023.10:g.48924857C>T	VUS	1 lab	1bb94966c3
13:110857900 COL4A1 T>C	13	110857900	110857900	T	C	COL4A1	c.859-15A>G	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110857900T>C	(Likely) benign	1 lab	1bbc9b31f8
X:136648987 ZIC3 C>G	X	136648987	136648987	C	G	ZIC3	c.137C>G	NM_003413.3	NP_003404.1:p.(Ala46Gly)	NC_000023.10:g.136648987C>G	(Likely) benign	1 lab	1bbce37474
1:22166021 HSPG2 G>A	1	22166021	22166021	G	A	HSPG2	c.9735C>T	NM_001291860.1	NP_001278789.1:p.(His3245=)	NC_000001.10:g.22166021G>A	(Likely) benign	1 lab	1bbf381d7e
X:102968546 GLRA4 C>A	X	102968546	102968546	C	A	GLRA4	c.985G>T	NM_001024452.2	NP_001019623.2:p.(Val329Leu)	NC_000023.10:g.102968546C>A	(Likely) benign	1 lab	1bc0aa8121
21:47754541 PCNT A>G	21	47754541	47754541	A	G	PCNT	c.498A>G	NM_006031.5	NP_006022.3:p.(Pro166=)	NC_000021.8:g.47754541A>G	(Likely) benign	1 lab	1bc2f8b4e5
1:145416609 HJV T>TG	1	145416609	145416615	T	TG	HJV	c.960dup	NM_213653.3	NP_998818.1:p.(Cys321ValfsTer21)	NC_000001.10:g.145416615dup	(Likely) pathogenic	1 lab	1bc4a21317
1:103496705 COL11A1 C>T	1	103496705	103496705	C	T	COL11A1	c.747G>A	NM_080629.2	NP_542196.2:p.(Lys249=)	NC_000001.10:g.103496705C>T	(Likely) benign	1 lab	1bc50b677b
1:183094645 LAMC1 C>G	1	183094645	183094645	C	G	LAMC1	c.2761C>G	NM_002293.3	NP_002284.3:p.(Pro921Ala)	NC_000001.10:g.183094645C>G	(Likely) benign	1 lab	1bc5592212
12:40702952 LRRK2 C>T	12	40702952	40702952	C	T	LRRK2	c.4234C>T	NM_198578.3	NP_940980.3:p.(Arg1412Ter)	NC_000012.11:g.40702952C>T	VUS	1 lab	1bc6338576
16:57789821 KATNB1 C>T	16	57789821	57789821	C	T	KATNB1	c.1635C>T	NM_005886.2	NP_005877.2:p.(Asn545=)	NC_000016.9:g.57789821C>T	(Likely) benign	1 lab	1bc70b882a
10:73563181 CDH23 C>G	10	73563181	73563181	C	G	CDH23	c.7872+4C>G	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73563181C>G	VUS	1 lab	1bc773f587
12:49431638 KMT2D C>T	12	49431638	49431638	C	T	KMT2D	c.9501G>A	NM_003482.3	NP_003473.3:p.(Arg3167=)	NC_000012.11:g.49431638C>T	(Likely) benign	1 lab	1bc89bcc0a
19:45209045 CEACAM16 A>G	19	45209045	45209045	A	G	CEACAM16	c.847A>G	NM_001039213.4	NP_001034302.2:p.(Met283Val)	NC_000019.9:g.45209045A>G	VUS	1 lab	1bc8bb0392
7:2959041 CARD11 A>G	7	2959041	2959041	A	G	CARD11	c.2475T>C	NM_001324281.1	NP_001311210.1:p.(His825=)	NC_000007.13:g.2959041A>G	(Likely) benign	1 lab	1bc9f21fb7
2:27668207 IFT172 A>G	2	27668207	27668207	A	G	IFT172	c.5024T>C	NM_015662.2	NP_056477.1:p.(Val1675Ala)	NC_000002.11:g.27668207A>G	VUS	1 lab	1bcb0febb9
11:68197116 LRP5 G>A	11	68197116	68197116	G	A	LRP5	c.1968G>A	NM_001291902.1	NP_001278831.1:p.(Arg656=)	NC_000011.9:g.68197116G>A	(Likely) benign	1 lab	1bcb6415bc
X:153172041 AVPR2 T>C	X	153172041	153172041	T	C	AVPR2	c.975T>C	NM_000054.5	NP_000045.1:p.(Tyr325=)	NC_000023.10:g.153172041T>C	(Likely) benign	1 lab	1bcc5520ab
3:169693445 SEC62 G>A	3	169693445	169693445	G	A	SEC62	c.86G>A	NM_003262.4	NP_003253.1:p.(Arg29Gln)	NC_000003.11:g.169693445G>A	VUS	1 lab	1bccd7e0b7
2:210843338 UNC80 C>T	2	210843338	210843338	C	T	UNC80	c.8826C>T	NM_032504.1	NP_115893.1:p.(Asn2942=)	NC_000002.11:g.210843338C>T	(Likely) benign	1 lab	1bcd003b06
12:109278895 DAO G>A	12	109278895	109278895	G	A	DAO	c.113G>A	NM_001917.4	NP_001908.3:p.(Arg38His)	NC_000012.11:g.109278895G>A	VUS	1 lab	1bcdecee41
16:2120529 TSC2 CACT>C	16	2120529	2120534	CACT	C	TSC2	c.1792_1794del	NM_000548.5	NP_000539.2:p.(Tyr598del)	NC_000016.9:g.2120532_2120534del	(Likely) pathogenic	1 lab	1bd059d1c8
17:29664880 NF1 G>A	17	29664880	29664880	G	A	NF1	c.6623G>A	NM_000267.3	NP_000258.1:p.(Trp2208Ter)	NC_000017.10:g.29664880G>A	(Likely) pathogenic	1 lab	1bd05fde54
11:62473044 BSCL2 C>T	11	62473044	62473044	C	T	BSCL2	c.133G>A	NM_001122955.3	NP_001116427.1:p.(Gly45Ser)	NC_000011.9:g.62473044C>T	VUS	1 lab	1bd0aebb38
2:69746286 AAK1 C>A	2	69746286	69746286	C	A	AAK1	c.1297G>T	NM_014911.4	NP_055726.3:p.(Ala433Ser)	NC_000002.11:g.69746286C>A	(Likely) benign	1 lab	1bd3d58310
15:64050494 HERC1 A>G	15	64050494	64050494	A	G	HERC1	c.1101T>C	NM_003922.3	NP_003913.3:p.(Ile367=)	NC_000015.9:g.64050494A>G	(Likely) benign	1 lab	1bd425111f
19:42410691 ARHGEF1 G>A	19	42410691	42410691	G	A	ARHGEF1	c.2619G>A	NM_199002.1	NP_945353.1:p.(Gly873=)	NC_000019.9:g.42410691G>A	(Likely) benign	1 lab	1bd6445ae6
8:22864341 RHOBTB2 G>A	8	22864341	22864341	G	A	RHOBTB2	c.649G>A	NM_001160036.2	NP_001153508.1:p.(Gly217Ser)	NC_000008.10:g.22864341G>A	VUS	1 lab	e4bcb4612c
14:105411568 AHNAK2 T>C	14	105411568	105411568	T	C	AHNAK2	c.10220A>G	NM_138420.3	NP_612429.2:p.(Lys3407Arg)	NC_000014.8:g.105411568T>C	(Likely) benign	1 lab	1bd6b9b1c5
3:37067365 MLH1 C>T	3	37067365	37067365	C	T	MLH1	c.1276C>T	NM_000249.4	NP_000240.1:p.(Gln426Ter)	NC_000003.11:g.37067365C>T	(Likely) pathogenic	1 lab	e4c486c7ce
9:135983574 RALGDS A>G	9	135983574	135983574	A	G	RALGDS	c.998T>C	NM_006266.4	NP_006257.1:p.(Leu333Pro)	NC_000009.11:g.135983574A>G	(Likely) benign	1 lab	1bd970ddcc
3:64138955 PRICKLE2 G>A	3	64138955	64138955	G	A	PRICKLE2	c.690C>T	NM_198859.3	NP_942559.1:p.(Gly230=)	NC_000003.11:g.64138955G>A	(Likely) benign	1 lab	1bda473133
X:64708874 ZC3H12B G>A	X	64708874	64708874	G	A	ZC3H12B	c.193G>A	NM_001010888.3	NP_001010888.3:p.(Gly65Ser)	NC_000023.10:g.64708874G>A	(Likely) benign	1 lab	1bdb240240
20:25257324 PYGB A>G	20	25257324	25257324	A	G	PYGB	c.703A>G	NM_002862.4	NP_002853.2:p.(Lys235Glu)	NC_000020.10:g.25257324A>G	VUS	1 lab	1bdbe72fb1
5:79026479 CMYA5 T>C	5	79026479	79026479	T	C	CMYA5	c.1891T>C	NM_153610.5	NP_705838.3:p.(Ser631Pro)	NC_000005.9:g.79026479T>C	VUS	1 lab	1be0836023
17:29509521 NF1 T>C	17	29509521	29509521	T	C	NF1	c.731-5T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509521T>C	(Likely) benign	1 lab	1c001907e5
3:142272220 ATR A>C	3	142272220	142272220	A	C	ATR	c.2654T>G	NM_001184.4	NP_001175.2:p.(Val885Gly)	NC_000003.11:g.142272220A>C	VUS	1 lab	e4c7493172
X:119243183 RHOXF1 G>A	X	119243183	119243183	G	A	RHOXF1	c.522C>T	NM_139282.2	NP_644811.1:p.(Asp174=)	NC_000023.10:g.119243183G>A	(Likely) benign	1 lab	1be176a238
22:35742975 TOM1 G>C	22	35742975	35742975	G	C	TOM1	c.1327+10G>C	NM_001135732.1	NP_001129204.1:p.?	NC_000022.10:g.35742975G>C	(Likely) benign	1 lab	1be1ac651b
7:107599847 LAMB1 A>G	7	107599847	107599847	A	G	LAMB1	c.2537T>C	NM_002291.2	NP_002282.2:p.(Val846Ala)	NC_000007.13:g.107599847A>G	VUS	1 lab	1be288c938
2:28849343 PLB1 G>A	2	28849343	28849343	G	A	PLB1	c.3628G>A	NM_153021.4	NP_694566.4:p.(Val1210Ile)	NC_000002.11:g.28849343G>A	(Likely) benign	1 lab	1be2ac95fa
17:29654506 NF1 C>G	17	29654506	29654506	C	G	NF1	c.5206-11C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654506C>G	VUS	1 lab	1be3745d4c
17:32964573 TMEM132E A>T	17	32964573	32964573	A	T	TMEM132E	c.2547A>T	NM_001304438.1	NP_001291367.1:p.(Leu849=)	NC_000017.10:g.32964573A>T	(Likely) benign	1 lab	1be5fce3fc
X:99942238 SYTL4 G>A	X	99942238	99942238	G	A	SYTL4	c.1010C>T	NM_080737.2	NP_542775.2:p.(Thr337Met)	NC_000023.10:g.99942238G>A	VUS	1 lab	1be6453973
2:179408008 TTN C>T	2	179408008	179408008	C	T	TTN	c.96692G>A	NM_001267550.1	NP_001254479.1:p.(Gly32231Asp)	NC_000002.11:g.179408008C>T	VUS	1 lab	1be673dc47
10:31810679 ZEB1 A>G	10	31810679	31810679	A	G	ZEB1	c.1762A>G	NM_001323638.1	NP_001310567.1:p.(Thr588Ala)	NC_000010.10:g.31810679A>G	VUS	1 lab	1be894d8f0
10:5791560 TASOR2 C>T	10	5791560	5791560	C	T	TASOR2	c.6176C>T	NM_001321784.1	NP_001308713.1:p.(Thr2059Ile)	NC_000010.10:g.5791560C>T	(Likely) benign	1 lab	1be997697e
22:28501742 TTC28 G>A	22	28501742	28501742	G	A	TTC28	c.2832C>T	NM_001145418.1	NP_001138890.1:p.(Leu944=)	NC_000022.10:g.28501742G>A	(Likely) benign	1 lab	1be9a52cdb
11:76833058 CAPN5 T>C	11	76833058	76833058	T	C	CAPN5	c.1566T>C	NM_004055.4	NP_004046.2:p.(His522=)	NC_000011.9:g.76833058T>C	(Likely) benign	1 lab	1bea2e5ffd
22:38508211 PLA2G6 C>A	22	38508211	38508211	C	A	PLA2G6	c.1844G>T	NM_001349867.1	NP_001336796.1:p.(Arg615Leu)	NC_000022.10:g.38508211C>A	VUS	1 lab	1bea96813a
15:88678508 NTRK3 C>T	15	88678508	88678508	C	T	NTRK3	c.1028G>A	NM_001007156.2	NP_001007157.1:p.(Arg343Gln)	NC_000015.9:g.88678508C>T	(Likely) benign	1 lab	1beabe74b2
1:150531580 ADAMTSL4 G>A	1	150531580	150531580	G	A	ADAMTSL4	c.2771G>A	NM_001288608.1	NP_001275537.1:p.(Arg924His)	NC_000001.10:g.150531580G>A	VUS	1 lab	1bec921017
2:233350644 ECEL1 G>T	2	233350644	233350644	G	T	ECEL1	c.720C>A	NM_004826.3	NP_004817.2:p.(Ser240Arg)	NC_000002.11:g.233350644G>T	VUS	1 lab	1becfce01b
16:2122982 TSC2 C>T	16	2122982	2122982	C	T	TSC2	c.2353C>T	NM_000548.3	NP_000539.2:p.(Gln785Ter)	NC_000016.9:g.2122982C>T	(Likely) pathogenic	1 lab	1bedd62847
X:71358865 NHSL2 T>G	X	71358865	71358865	T	G	NHSL2	c.1467T>G	NM_001013627.2	NP_001013649.2:p.(Gly489=)	NC_000023.10:g.71358865T>G	(Likely) benign	1 lab	1beea63065
X:299417 PPP2R3B G>A	X	299417	299417	G	A	PPP2R3B	c.1499C>T	NM_013239.4	NP_037371.2:p.(Ser500Leu)	NC_000023.10:g.299417G>A	VUS	1 lab	1bf08150f1
11:17554868 USH1C A>G	11	17554868	17554868	A	G	USH1C	c.38T>C	NM_153676.3	NP_710142.1:p.(Val13Ala)	NC_000011.9:g.17554868A>G	VUS	1 lab	1bf0b200e5
10:102242450 WNT8B C>T	10	102242450	102242450	C	T	WNT8B	c.933C>T	NM_003393.3	NP_003384.2:p.(Cys311=)	NC_000010.10:g.102242450C>T	VUS	1 lab	1bf36902e0
X:152482082 MAGEA1 C>G	X	152482082	152482082	C	G	MAGEA1	c.929G>C	NM_004988.4	NP_004979.3:p.(Ter310SerextTer2)	NC_000023.10:g.152482082C>G	VUS	1 lab	1bf37639c0
5:64103554 CWC27 T>A	5	64103554	64103554	T	A	CWC27	c.1067T>A	NM_001297645.1	NP_001284574.1:p.(Leu356Ter)	NC_000005.9:g.64103554T>A	(Likely) pathogenic	1 lab	1bf815bd10
19:45868304 ERCC2 T>C	19	45868304	45868304	T	C	ERCC2	c.473A>G	NM_000400.3	NP_000391.1:p.(Tyr158Cys)	NC_000019.9:g.45868304T>C	VUS	1 lab	1bf82837f3
2:214012467 IKZF2 T>C	2	214012467	214012467	T	C	IKZF2	c.104A>G	NM_001079526.2	NP_001072994.1:p.(Asn35Ser)	NC_000002.11:g.214012467T>C	VUS	1 lab	e4caf17798
2:179517678 TTN A>G	2	179517678	179517678	A	G	TTN	c.38876-20T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517678A>G	(Likely) benign	1 lab	1bf8586b0b
3:12626638 RAF1 T>C	3	12626638	12626638	T	C	RAF1	c.1711A>G	NM_001354689.3	NP_001341618.1:p.(Ile571Val)	NC_000003.11:g.12626638T>C	VUS	1 lab	e4cc9c9c2e
17:44091724 MAPT G>A	17	44091724	44091724	G	A	MAPT	c.997+34G>A	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44091724G>A	(Likely) benign	1 lab	1bfa33c360
20:3674248 SIGLEC1 G>T	20	3674248	3674248	G	T	SIGLEC1	c.3354C>A	NM_023068.4	NP_075556.1:p.(Thr1118=)	NC_000020.10:g.3674248G>T	(Likely) benign	1 lab	1bfb198e55
14:21802833 RPGRIP1 TGC>T	14	21802833	21802835	TGC	T	RPGRIP1	c.3309_3310del	NM_020366.4	NP_065099.3:p.(Pro1104ThrfsTer8)	NC_000014.8:g.21802834_21802835del	(Likely) benign	1 lab	1bfd449189
4:15554925 CC2D2A G>A	4	15554925	15554925	G	A	CC2D2A	c.2483G>A	NM_001080522.2	NP_001073991.2:p.(Arg828Gln)	NC_000004.11:g.15554925G>A	(Likely) benign	1 lab	1bfe41ff94
6:159650868 FNDC1 C>T	6	159650868	159650868	C	T	FNDC1	c.1202C>T	NM_032532.3	NP_115921.2:p.(Pro401Leu)	NC_000006.11:g.159650868C>T	VUS	1 lab	1bff125fe2
6:56371507 DST A>G	6	56371507	56371507	A	G	DST	c.12963T>C	NM_001144769.2	NP_001138241.1:p.(Cys4321=)	NC_000006.11:g.56371507A>G	(Likely) benign	1 lab	1bffbb4a74
17:29559918 NF1 T>C	17	29559918	29559918	T	C	NF1	c.3496+19T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559918T>C	(Likely) benign	1 lab	1c00170523
1:1854133 CFAP74 T>A	1	1854133	1854133	T	A	CFAP74	c.4713A>T	NM_001304360.2	NP_001291289.1:p.(Ala1571=)	NC_000001.10:g.1854133T>A	(Likely) benign	1 lab	1c0260b151
11:61313548 MISSING C>T	11	61313548	61313548	C	T	MISSING				NC_000011.9:g.61313548C>T	(Likely) benign	1 lab	1c0501c1b5
1:53666456 CPT2 A>G	1	53666456	53666456	A	G	CPT2	c.218A>G	NM_000098.3	NP_000089.1:p.(Asn73Ser)	NC_000001.10:g.53666456A>G	VUS	1 lab	e4cdebf354
7:91842557 KRIT1 A>C	7	91842557	91842557	A	C	KRIT1	c.1977T>G	NM_004912.4	NP_004903.2:p.(Tyr659Ter)	NC_000007.13:g.91842557A>C	(Likely) pathogenic	1 lab	1c07adaa38
1:216040389 USH2A G>A	1	216040389	216040389	G	A	USH2A	c.8805C>T	NM_206933.2	NP_996816.2:p.(Val2935=)	NC_000001.10:g.216040389G>A	(Likely) benign	1 lab	1c07e25709
17:7578480 TP53 T>C	17	7578480	7578480	T	C	TP53	c.450A>G	NM_000546.5	NP_000537.3:p.(Thr150=)	NC_000017.10:g.7578480T>C	(Likely) benign	1 lab	1c07f421b7
2:179605219 TTN C>T	2	179605219	179605219	C	T	TTN	c.12741G>A	NM_001267550.1	NP_001254479.1:p.(Glu4247=)	NC_000002.11:g.179605219C>T	(Likely) benign	1 lab	1c08053985
11:118374815 KMT2A A>C	11	118374815	118374815	A	C	KMT2A	c.8208A>C	NM_001197104.1	NP_001184033.1:p.(Thr2736=)	NC_000011.9:g.118374815A>C	(Likely) benign	1 lab	1c08a961e1
15:68506712 CLN6 G>C	15	68506712	68506712	G	C	CLN6	c.213C>G	NM_017882.2	NP_060352.1:p.(Leu71=)	NC_000015.9:g.68506712G>C	(Likely) benign	1 lab	1c08f1c266
X:142795520 SPANXN2 A>T	X	142795520	142795520	A	T	SPANXN2	c.158T>A	NM_001009615.2	NP_001009615.1:p.(Ile53Lys)	NC_000023.10:g.142795520A>T	VUS	1 lab	1c092e2185
X:77245388 ATP7A C>T	X	77245388	77245388	C	T	ATP7A	c.1270C>T	NM_000052.6	NP_000043.4:p.(Leu424=)	NC_000023.10:g.77245388C>T	(Likely) benign	1 lab	1c0943b3a6
X:135080623 SLC9A6 C>CT	X	135080623	135080635	C	CT	SLC9A6	c.604-6dup	NM_001042537.2	NP_001036002.1:p.?	NC_000023.10:g.135080635dup	(Likely) benign	1 lab	e4cfb8437e
17:42964127 EFTUD2 A>G	17	42964127	42964127	A	G	EFTUD2	c.106-9T>C	NM_001258353.1	NP_001245282.1:p.?	NC_000017.10:g.42964127A>G	(Likely) benign	1 lab	1c0c552ada
15:43308040 UBR1 G>A	15	43308040	43308040	G	A	UBR1	c.3055C>T	NM_174916.2	NP_777576.1:p.(Arg1019Ter)	NC_000015.9:g.43308040G>A	(Likely) pathogenic	1 lab	1c0e735b56
16:88499040 ZNF469 G>T	16	88499040	88499040	G	T	ZNF469				NC_000016.9:g.88499040G>T	VUS	1 lab	1cead27acc
7:128475371 FLNC C>T	7	128475371	128475371	C	T	FLNC	c.353-9C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128475371C>T	(Likely) benign	1 lab	1c0fd0ab71
2:191903991 STAT4 A>G	2	191903991	191903991	A	G	STAT4	c.1368T>C	NM_003151.3	NP_003142.1:p.(Asn456=)	NC_000002.11:g.191903991A>G	(Likely) benign	1 lab	1c10d93321
15:34527470 SLC12A6 G>A	15	34527470	34527470	G	A	SLC12A6	c.3273C>T	NM_001365088.1	NP_001352017.1:p.(Asn1091=)	NC_000015.9:g.34527470G>A	(Likely) benign	1 lab	1c13a4e1a9
16:2136731 TSC2 A>G	16	2136731	2136731	A	G	TSC2	c.4850-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136731A>G	(Likely) pathogenic	1 lab	1c15ab123c
17:73517929 TSEN54 G>A	17	73517929	73517929	G	A	TSEN54	c.767G>A	NM_207346.2	NP_997229.2:p.(Gly256Asp)	NC_000017.10:g.73517929G>A	(Likely) benign	1 lab	1c15fce838
5:80375993 RASGRF2 T>G	5	80375993	80375993	T	G	RASGRF2	c.941T>G	NM_006909.2	NP_008840.1:p.(Ile314Arg)	NC_000005.9:g.80375993T>G	VUS	1 lab	1c164dae65
19:4817172 TICAM1 T>C	19	4817172	4817172	T	C	TICAM1	c.1218A>G	NM_182919.3	NP_891549.1:p.(Glu406=)	NC_000019.9:g.4817172T>C	(Likely) benign	1 lab	1c16fadd81
12:80889829 PTPRQ T>A	12	80889829	80889829	T	A	PTPRQ	c.1934T>A	NM_001145026.2	NP_001138498.1:p.(Val645Asp)	NC_000012.11:g.80889829T>A	(Likely) benign	1 lab	e4d0446c13
22:21336682 LZTR1 G>T	22	21336682	21336682	G	T	LZTR1	c.22G>T	NM_006767.3	NP_006758.2:p.(Gly8Trp)	NC_000022.10:g.21336682G>T	VUS	1 lab	1c176a2b7d
8:55539775 RP1 A>G	8	55539775	55539775	A	G	RP1	c.3333A>G	NM_006269.1	NP_006260.1:p.(Ser1111=)	NC_000008.10:g.55539775A>G	(Likely) benign	1 lab	1c17cebcf4
7:156584275 LMBR1 A>G	7	156584275	156584275	A	G	LMBR1	c.423+4808T>C	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584275A>G	(Likely) pathogenic	1 lab	1c1825ee9c
16:84199513 DNAAF1 C>A	16	84199513	84199513	C	A	DNAAF1	c.988C>A	NM_178452.5	NP_848547.4:p.(Arg330=)	NC_000016.9:g.84199513C>A	(Likely) benign	1 lab	1c18b0b687
6:26156893 H1-4 C>T	6	26156893	26156893	C	T	H1-4	c.275C>T	NM_005321.3	NP_005312.1:p.(Thr92Ile)	NC_000006.11:g.26156893C>T	(Likely) benign	1 lab	e4d061aaed
X:85156083 CHM C>T	X	85156083	85156083	C	T	CHM	c.1349+6G>A	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85156083C>T	VUS	1 lab	1c19e99412
1:155649287 YY1AP1 C>A	1	155649287	155649287	C	A	YY1AP1	c.452G>T	NM_001198903.1	NP_001185832.1:p.(Gly151Val)	NC_000001.10:g.155649287C>A	VUS	1 lab	1c1ab3a3d9
21:46929974 COL18A1 G>A	21	46929974	46929974	G	A	COL18A1	c.4732-4G>A	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46929974G>A	(Likely) benign	1 lab	1c1aefbce7
2:62066986 FAM161A G>C	2	62066986	62066986	G	C	FAM161A	c.1153C>G	NM_001201543.1	NP_001188472.1:p.(Gln385Glu)	NC_000002.11:g.62066986G>C	(Likely) benign	1 lab	1c1c046ec9
7:84629070 SEMA3D G>T	7	84629070	84629070	G	T	SEMA3D	c.2020C>A	NM_152754.2	NP_689967.2:p.(His674Asn)	NC_000007.13:g.84629070G>T	VUS	1 lab	1c1c3c3091
17:7128200 ACADVL C>T	17	7128200	7128200	C	T	ACADVL	c.1596C>T	NM_001270448.1	NP_001257377.1:p.(Ile532=)	NC_000017.10:g.7128200C>T	(Likely) benign	1 lab	1c1df28dcd
12:49421882 KMT2D T>C	12	49421882	49421882	T	C	KMT2D	c.14425A>G	NM_003482.3	NP_003473.3:p.(Met4809Val)	NC_000012.11:g.49421882T>C	(Likely) benign	1 lab	1c1e3a7b81
7:73470621 ELN G>T	7	73470621	73470621	G	T	ELN	c.1171G>T	NM_001278939.1	NP_001265868.1:p.(Val391Phe)	NC_000007.13:g.73470621G>T	VUS	1 lab	1c1ee41b19
17:40716828 COASY G>A	17	40716828	40716828	G	A	COASY	c.1149G>A	NM_025233.6	NP_079509.5:p.(Ala383=)	NC_000017.10:g.40716828G>A	(Likely) benign	1 lab	1c1f0fdbf7
8:10464706 RP1L1 G>C	8	10464706	10464706	G	C	RP1L1	c.6902C>G	NM_178857.5	NP_849188.4:p.(Ser2301Cys)	NC_000008.10:g.10464706G>C	VUS	1 lab	1c20faf4b1
5:60214175 ERCC8 G>A	5	60214175	60214175	G	A	ERCC8	c.316C>T	NM_000082.3	NP_000073.1:p.(Gln106Ter)	NC_000005.9:g.60214175G>A	(Likely) pathogenic	1 lab	1c20feeecf
16:30369889 TBC1D10B G>C	16	30369889	30369889	G	C	TBC1D10B	c.1803C>G	NM_015527.4	NP_056342.3:p.(Thr601=)	NC_000016.9:g.30369889G>C	(Likely) benign	1 lab	1c216b847b
13:110833760 COL4A1 A>C	13	110833760	110833760	A	C	COL4A1	c.2096-24T>G	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110833760A>C	(Likely) benign	1 lab	1c25af686a
16:12140243 SNX29 C>T	16	12140243	12140243	C	T	SNX29	c.431C>T	NM_032167.5	NP_115543.3:p.(Thr144Ile)	NC_000016.9:g.12140243C>T	(Likely) benign	1 lab	1c268d802e
18:52899873 TCF4 C>T	18	52899873	52899873	C	T	TCF4	c.1513G>A	NM_001330604.2	NP_001317533.1:p.(Val505Ile)	NC_000018.9:g.52899873C>T	VUS	1 lab	1c26c384c0
17:29508736 NF1 G>A	17	29508736	29508736	G	A	NF1	c.663G>A	NM_000267.3	NP_000258.1:p.(Trp221Ter)	NC_000017.10:g.29508736G>A	(Likely) pathogenic	1 lab	1c298408b7
2:71788891 DYSF G>A	2	71788891	71788891	G	A	DYSF	c.2223G>A	NM_001130981.1	NP_001124453.1:p.(Leu741=)	NC_000002.11:g.71788891G>A	(Likely) benign	1 lab	1c29a8eb12
5:73207161 ARHGEF28 C>A	5	73207161	73207161	C	A	ARHGEF28	c.4709C>A	NM_001080479.2	NP_001073948.2:p.(Ala1570Asp)	NC_000005.9:g.73207161C>A	VUS	1 lab	1c2ed8e312
3:193333491 OPA1 C>T	3	193333491	193333491	C	T	OPA1	c.380C>T	NM_130837.2	NP_570850.2:p.(Pro127Leu)	NC_000003.11:g.193333491C>T	VUS	1 lab	1c2efaedf3
2:219525927 BCS1L C>T	2	219525927	219525927	C	T	BCS1L	c.217C>T	NM_004328.4	NP_004319.1:p.(Arg73Cys)	NC_000002.11:g.219525927C>T	VUS	1 lab	1c2fcf2e2a
17:48750833 ABCC3 C>T	17	48750833	48750833	C	T	ABCC3	c.2413C>T	NM_003786.4	NP_003777.2:p.(Arg805Ter)	NC_000017.10:g.48750833C>T	VUS	1 lab	1c30ff5ed4
21:47819615 PCNT C>A	21	47819615	47819615	C	A	PCNT	c.4696C>A	NM_006031.5	NP_006022.3:p.(Arg1566Ser)	NC_000021.8:g.47819615C>A	(Likely) benign	1 lab	1c32008ee6
3:132379503 UBA5 A>G	3	132379503	132379503	A	G	UBA5	c.122A>G	NM_024818.4	NP_079094.1:p.(Glu41Gly)	NC_000003.11:g.132379503A>G	VUS	1 lab	1c34ed2acd
X:19443667 MAP3K15 T>C	X	19443667	19443667	T	C	MAP3K15	c.1421A>G	NM_001001671.3	NP_001001671.3:p.(Lys474Arg)	NC_000023.10:g.19443667T>C	VUS	1 lab	1c360263dd
11:125848216 CDON A>G	11	125848216	125848216	A	G	CDON	c.3339T>C	NM_001243597.1	NP_001230526.1:p.(Asn1113=)	NC_000011.9:g.125848216A>G	(Likely) benign	1 lab	1c37754adc
2:27592755 EIF2B4 G>A	2	27592755	27592755	G	A	EIF2B4	c.18C>T	NM_001318966.1	NP_001305895.1:p.(Pro6=)	NC_000002.11:g.27592755G>A	(Likely) benign	1 lab	1c38ac9977
6:7580635 DSP C>T	6	7580635	7580635	C	T	DSP	c.4212C>T	NM_004415.4	NP_004406.2:p.(Ser1404=)	NC_000006.11:g.7580635C>T	(Likely) benign	1 lab	e4d15ba280
16:2129580 TSC2 A>AC	16	2129580	2129581	A	AC	TSC2	c.3307_3308insC	NM_000548.3	NP_000539.2:p.(Arg1103ThrfsTer65)	NC_000016.9:g.2129580_2129581insC	(Likely) pathogenic	1 lab	1c3b063fab
19:42872692 MEGF8 G>C	19	42872692	42872692	G	C	MEGF8	c.6359G>C	NM_001271938.2	NP_001258867.1:p.(Gly2120Ala)	NC_000019.9:g.42872692G>C	(Likely) benign	1 lab	1c3b8d7d20
6:165749644 PDE10A G>C	6	165749644	165749644	G	C	PDE10A	c.2205C>G	NM_006661.3	NP_006652.1:p.(Leu735=)	NC_000006.11:g.165749644G>C	(Likely) benign	1 lab	1c3d33028f
7:150884072 ASB10 C>T	7	150884072	150884072	C	T	ASB10	c.146G>A	NM_001142459.2	NP_001135931.2:p.(Arg49His)	NC_000007.13:g.150884072C>T	(Likely) benign	1 lab	1c40c12262
X:48117196 SSX1 G>A	X	48117196	48117196	G	A	SSX1	c.85G>A	NM_001278691.1	NP_001265620.1:p.(Ala29Thr)	NC_000023.10:g.48117196G>A	(Likely) benign	1 lab	1c4431472f
13:114435881 GRK1 C>T	13	114435881	114435881	C	T	GRK1	c.1219C>T	NM_002929.3	NP_002920.1:p.(Arg407Trp)	NC_000013.10:g.114435881C>T	VUS	1 lab	1c44585948
7:55272940 EGFR C>T	7	55272940	55272940	C	T	EGFR	c.3272-9C>T	NM_005228.3	NP_005219.2:p.?	NC_000007.13:g.55272940C>T	(Likely) benign	1 lab	1c4666b514
17:36499416 GPR179 C>T	17	36499416	36499416	C	T	GPR179	c.257G>A	NM_001004334.3	NP_001004334.3:p.(Gly86Glu)	NC_000017.10:g.36499416C>T	(Likely) benign	1 lab	1c46b08c86
3:53220689 PRKCD C>T	3	53220689	53220689	C	T	PRKCD	c.1330C>T	NM_001354680.2	NP_001341609.1:p.(Arg444Cys)	NC_000003.11:g.53220689C>T	VUS	1 lab	e4d2fa8169
2:179410367 TTN T>TA	2	179410367	179410368	T	TA	TTN	c.95469dup	NM_001267550.1	NP_001254479.1:p.(Ile31824TyrfsTer9)	NC_000002.11:g.179410368dup	(Likely) pathogenic	1 lab	1c481b7e24
5:115782730 SEMA6A G>A	5	115782730	115782730	G	A	SEMA6A	c.2723C>T	NM_001300780.1	NP_001287709.1:p.(Pro908Leu)	NC_000005.9:g.115782730G>A	(Likely) benign	1 lab	1c48829c94
18:44113283 LOXHD1 G>A	18	44113283	44113283	G	A	LOXHD1	c.4217C>T	NM_144612.6	NP_653213.6:p.(Ala1406Val)	NC_000018.9:g.44113283G>A	(Likely) benign	1 lab	1c48a41345
5:68715576 MARVELD2 G>A	5	68715576	68715576	G	A	MARVELD2	c.364G>A	NM_001038603.2	NP_001033692.2:p.(Ala122Thr)	NC_000005.9:g.68715576G>A	(Likely) benign	1 lab	1c4ac963b7
6:157099458 ARID1B A>G	6	157099458	157099458	A	G	ARID1B	c.395A>G	NM_001346813.1	NP_001333742.1:p.(His132Arg)	NC_000006.11:g.157099458A>G	(Likely) benign	1 lab	1c4c462f82
1:27092742 ARID1A G>A	1	27092742	27092742	G	A	ARID1A	c.2763G>A	NM_006015.4	NP_006006.3:p.(Gly921=)	NC_000001.10:g.27092742G>A	(Likely) benign	1 lab	1c4d35723d
17:26220340 LYRM9 C>A	17	26220340	26220340	C	A	LYRM9	c.-19+3G>T	NM_001076680.1	NP_001070148.1:p.?	NC_000017.10:g.26220340C>A	VUS	1 lab	1c4e4d15c8
1:210194555 SYT14 C>T	1	210194555	210194555	C	T	SYT14	c.398C>T	NM_001146262.2	NP_001139734.1:p.(Ser133Leu)	NC_000001.10:g.210194555C>T	VUS	1 lab	1c4f082635
6:135754165 AHI1 C>A	6	135754165	135754165	C	A	AHI1	c.2266G>T	NM_001134831.1	NP_001128303.1:p.(Gly756Cys)	NC_000006.11:g.135754165C>A	VUS	1 lab	1c548ac5d4
7:4830812 AP5Z1 C>T	7	4830812	4830812	C	T	AP5Z1	c.2220C>T	NM_014855.3	NP_055670.1:p.(Ser740=)	NC_000007.13:g.4830812C>T	VUS	1 lab	1c56b25b0f
9:135203921 SETX C>T	9	135203921	135203921	C	T	SETX	c.3064G>A	NM_015046.5	NP_055861.3:p.(Asp1022Asn)	NC_000009.11:g.135203921C>T	VUS	1 lab	1c56b641b8
17:18046125 MYO15A G>A	17	18046125	18046125	G	A	MYO15A	c.5881G>A	NM_016239.3	NP_057323.3:p.(Ala1961Thr)	NC_000017.10:g.18046125G>A	VUS	1 lab	1c5829ea9e
X:63412497 AMER1 G>C	X	63412497	63412497	G	C	AMER1	c.670C>G	NM_152424.4	NP_689637.3:p.(Pro224Ala)	NC_000023.10:g.63412497G>C	(Likely) benign	1 lab	1c58342d49
13:23907885 SACS T>C	13	23907885	23907885	T	C	SACS	c.10130A>G	NM_014363.6	NP_055178.3:p.(Glu3377Gly)	NC_000013.10:g.23907885T>C	VUS	1 lab	e4d80d61e0
16:69728095 NFAT5 G>C	16	69728095	69728095	G	C	NFAT5	c.4085G>C	NM_138714.3	NP_619728.2:p.(Gly1362Ala)	NC_000016.9:g.69728095G>C	(Likely) benign	1 lab	1c5b6c7979
19:2250884 AMH T>TCA	19	2250884	2250885	T	TCA	AMH	c.701_702insCA	NM_000479.4	NP_000470.2:p.(Phe235SerfsTer12)	NC_000019.9:g.2250884_2250885insCA	(Likely) pathogenic	1 lab	1c62e92ddc
3:58135897 FLNB C>T	3	58135897	58135897	C	T	FLNB	c.6403C>T	NM_001164317.1	NP_001157789.1:p.(Arg2135Trp)	NC_000003.11:g.58135897C>T	VUS	1 lab	1c634d626f
17:62020194 SCN4A G>A	17	62020194	62020194	G	A	SCN4A	c.4280C>T	NM_000334.4	NP_000325.4:p.(Ser1427Phe)	NC_000017.10:g.62020194G>A	VUS	1 lab	1c63f243d7
8:19363108 CSGALNACT1 C>T	8	19363108	19363108	C	T	CSGALNACT1	c.238G>A	NM_001354491.1	NP_001341420.1:p.(Ala80Thr)	NC_000008.10:g.19363108C>T	VUS	1 lab	1c63f2d6bf
X:54955831 TRO A>G	X	54955831	54955831	A	G	TRO	c.2674A>G	NM_001039705.2	NP_001034794.1:p.(Ile892Val)	NC_000023.10:g.54955831A>G	(Likely) benign	1 lab	1c64d357ab
X:152814207 ATP2B3 A>G	X	152814207	152814207	A	G	ATP2B3	c.1233A>G	NM_021949.3	NP_068768.2:p.(Val411=)	NC_000023.10:g.152814207A>G	(Likely) benign	1 lab	1c651ff590
6:43323174 ZNF318 C>T	6	43323174	43323174	C	T	ZNF318	c.1898G>A	NM_014345.3	NP_055160.2:p.(Arg633His)	NC_000006.11:g.43323174C>T	VUS	1 lab	1c65b538d4
8:70617317 SLCO5A1 A>G	8	70617317	70617317	A	G	SLCO5A1	c.1571T>C	NM_030958.3	NP_112220.2:p.(Val524Ala)	NC_000008.10:g.70617317A>G	VUS	1 lab	1c66babf1f
X:73812479 RLIM C>G	X	73812479	73812479	C	G	RLIM	c.671G>C	NM_183353.2	NP_899196.1:p.(Arg224Thr)	NC_000023.10:g.73812479C>G	VUS	1 lab	1c68257521
2:191109651 HIBCH G>A	2	191109651	191109651	G	A	HIBCH	c.853C>T	NM_014362.3	NP_055177.2:p.(Gln285Ter)	NC_000002.11:g.191109651G>A	(Likely) pathogenic	1 lab	1c684a38f1
X:119678470 CUL4B G>A	X	119678470	119678470	G	A	CUL4B	c.1003C>T	NM_003588.3	NP_003579.3:p.(His335Tyr)	NC_000023.10:g.119678470G>A	(Likely) benign	1 lab	1c6908bfdd
17:29653069 NF1 C>G	17	29653069	29653069	C	G	NF1	c.5004C>G	NM_000267.3	NP_000258.1:p.(Tyr1668Ter)	NC_000017.10:g.29653069C>G	(Likely) pathogenic	1 lab	1c69d0f9c4
12:49580536 TUBA1A G>A	12	49580536	49580536	G	A	TUBA1A	c.84C>T	NM_001270399.1	NP_001257328.1:p.(His28=)	NC_000012.11:g.49580536G>A	(Likely) benign	1 lab	1c6a32ea71
19:1398762 GAMT G>T	19	1398762	1398762	G	T	GAMT	c.723C>A	NM_138924.2	NP_620279.1:p.(Val241=)	NC_000019.9:g.1398762G>T	(Likely) benign	1 lab	1c6b65ce8e
21:46888247 COL18A1 G>C	21	46888247	46888247	G	C	COL18A1	c.1443G>C	NM_130444.3	NP_569711.2:p.(Leu481=)	NC_000021.8:g.46888247G>C	VUS	1 lab	1c6ba2a28d
1:29533404 MECR G>A	1	29533404	29533404	G	A	MECR	c.192C>T	NM_001349712.1	NP_001336641.1:p.(Thr64=)	NC_000001.10:g.29533404G>A	(Likely) benign	1 lab	1c6eed92aa
15:48737685 FBN1 T>G	15	48737685	48737685	T	G	FBN1	c.5805A>C	NM_000138.4	NP_000129.3:p.(Ala1935=)	NC_000015.9:g.48737685T>G	(Likely) benign	1 lab	1c71eb7f30
11:113264333 ANKK1 C>T	11	113264333	113264333	C	T	ANKK1	c.316C>T	NM_178510.1	NP_848605.1:p.(Leu106=)	NC_000011.9:g.113264333C>T	(Likely) benign	1 lab	1c728a9ef3
X:153688859 PLXNA3 C>T	X	153688859	153688859	C	T	PLXNA3	c.336C>T	NM_017514.4	NP_059984.3:p.(Cys112=)	NC_000023.10:g.153688859C>T	(Likely) benign	1 lab	1c72979424
16:19710935 LOC125146422 G>A	16	19710935	19710935	G	A	LOC125146422				NC_000016.9:g.19710935G>A	VUS	1 lab	1c759d0beb
X:1720398 AKAP17A G>A	X	1720398	1720398	G	A	AKAP17A	c.1999G>A	NM_005088.2	NP_005079.2:p.(Ala667Thr)	NC_000023.10:g.1720398G>A	(Likely) benign	1 lab	1c767d0e14
1:43395680 SLC2A1 G>A	1	43395680	43395680	G	A	SLC2A1	c.543C>T	NM_006516.3	NP_006507.2:p.(Gly181=)	NC_000001.10:g.43395680G>A	VUS	1 lab	1c76c2a7e7
3:62253140 PTPRG C>T	3	62253140	62253140	C	T	PTPRG	c.2712C>T	NM_002841.4	NP_002832.3:p.(Ser904=)	NC_000003.11:g.62253140C>T	(Likely) benign	1 lab	1c76c6b9b7
12:111893869 ATXN2 C>T	12	111893869	111893869	C	T	ATXN2	c.3708G>A	NM_002973.3	NP_002964.3:p.(Ala1236=)	NC_000012.11:g.111893869C>T	(Likely) benign	1 lab	1c78946ce9
13:32910535 BRCA2 A>G	13	32910535	32910535	A	G	BRCA2	c.2043A>G	NM_000059.3	NP_000050.2:p.(Val681=)	NC_000013.10:g.32910535A>G	(Likely) benign	1 lab	1c78d9d7fd
11:130060378 ST14 G>A	11	130060378	130060378	G	A	ST14	c.664G>A	NM_021978.3	NP_068813.1:p.(Gly222Ser)	NC_000011.9:g.130060378G>A	(Likely) benign	1 lab	1c7972b337
22:32233073 DEPDC5 C>T	22	32233073	32233073	C	T	DEPDC5	c.2286C>T	NM_001242896.2	NP_001229825.1:p.(Asp762=)	NC_000022.10:g.32233073C>T	(Likely) benign	1 lab	1c79892808
X:10035336 WWC3 A>G	X	10035336	10035336	A	G	WWC3	c.26A>G	NM_015691.3	NP_056506.2:p.(Gln9Arg)	NC_000023.10:g.10035336A>G	VUS	1 lab	1c7a009296
19:8171060 FBN3 G>A	19	8171060	8171060	G	A	FBN3	c.4745C>T	NM_032447.5	NP_115823.3:p.(Thr1582Met)	NC_000019.9:g.8171060G>A	VUS	1 lab	1c7ceabbd3
9:123201841 CDK5RAP2 G>A	9	123201841	123201841	G	A	CDK5RAP2	c.3558C>T	NM_018249.5	NP_060719.4:p.(Leu1186=)	NC_000009.11:g.123201841G>A	(Likely) benign	1 lab	1c7d47c1cb
1:23667449 HNRNPR G>T	1	23667449	23667449	G	T	HNRNPR	c.53C>A	NM_001102398.3	NP_001095868.1:p.(Pro18Gln)	NC_000001.10:g.23667449G>T	VUS	1 lab	e4da772b8b
8:3019799 CSMD1 G>C	8	3019799	3019799	G	C	CSMD1	c.5726C>G	NM_033225.6	NP_150094.5:p.(Thr1909Ser)	NC_000008.10:g.3019799G>C	VUS	1 lab	1c7e9fd09e
5:73236826 ARHGEF28 T>C	5	73236826	73236826	T	C	ARHGEF28	c.5184T>C	NM_001080479.2	NP_001073948.2:p.(Ile1728=)	NC_000005.9:g.73236826T>C	(Likely) benign	1 lab	1c7fc92abe
8:145623194 CPSF1 G>A	8	145623194	145623194	G	A	CPSF1	c.2048C>T	NM_013291.3	NP_037423.2:p.(Ala683Val)	NC_000008.10:g.145623194G>A	VUS	1 lab	1c80350636
7:128582255 IRF5 G>T	7	128582255	128582255	G	T	IRF5	c.120G>T	NM_001098627.3	NP_001092097.2:p.(Lys40Asn)	NC_000007.13:g.128582255G>T	VUS	1 lab	1c80488167
9:140437937 PNPLA7 G>A	9	140437937	140437937	G	A	PNPLA7	c.453C>T	NM_001098537.3	NP_001092007.2:p.(Asp151=)	NC_000009.11:g.140437937G>A	(Likely) benign	1 lab	1c807341a1
6:56357221 DST T>C	6	56357221	56357221	T	C	DST	c.14204A>G	NM_001144769.2	NP_001138241.1:p.(Asn4735Ser)	NC_000006.11:g.56357221T>C	(Likely) benign	1 lab	1c840806f7
16:23641791 PALB2 C>G	16	23641791	23641791	C	G	PALB2	c.1685-1G>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23641791C>G	VUS	1 lab	e532e12e50
9:120475298 TLR4 G>A	9	120475298	120475298	G	A	TLR4	c.772G>A	NM_003266.3	NP_003257.1:p.(Asp258Asn)	NC_000009.11:g.120475298G>A	(Likely) benign	1 lab	1c85655ea4
7:151856004 KMT2C C>T	7	151856004	151856004	C	T	KMT2C	c.11614G>A	NM_170606.2	NP_733751.2:p.(Glu3872Lys)	NC_000007.13:g.151856004C>T	VUS	1 lab	1c8791f13f
17:29562909 NF1 T>C	17	29562909	29562909	T	C	NF1	c.3871-27T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562909T>C	(Likely) benign	1 lab	1c89c03f80
11:6643073 DCHS1 T>C	11	6643073	6643073	T	C	DCHS1				NC_000011.9:g.6643073T>C	(Likely) benign	1 lab	1c8a137c80
19:7605947 PNPLA6 C>A	19	7605947	7605947	C	A	PNPLA6	c.951+10C>A	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7605947C>A	(Likely) benign	1 lab	1c8b07f97e
1:215848141 USH2A T>C	1	215848141	215848141	T	C	USH2A	c.13112A>G	NM_206933.2	NP_996816.2:p.(Gln4371Arg)	NC_000001.10:g.215848141T>C	VUS	1 lab	1c8b6102ff
4:79328846 FRAS1 G>T	4	79328846	79328846	G	T	FRAS1	c.4159G>T	NM_025074.7	NP_079350.5:p.(Ala1387Ser)	NC_000004.11:g.79328846G>T	VUS	1 lab	1c8b837319
2:179464545 TTN C>T	2	179464545	179464545	C	T	TTN	c.56083G>A	NM_001267550.1	NP_001254479.1:p.(Glu18695Lys)	NC_000002.11:g.179464545C>T	VUS	1 lab	1c8ca99b07
7:74211863 GTF2IRD2 TG>T	7	74211863	74211864	TG	T	GTF2IRD2	c.1987del	NM_173537.5	NP_775808.4:p.(Gln663ArgfsTer3)	NC_000007.13:g.74211864del	VUS	1 lab	1c8cef9d99
1:247492555 ZNF496 C>T	1	247492555	247492555	C	T	ZNF496	c.326G>A	NM_032752.2	NP_116141.1:p.(Ser109Asn)	NC_000001.10:g.247492555C>T	VUS	1 lab	1c909526e3
20:61040905 GATA5 C>G	20	61040905	61040905	C	G	GATA5	c.898G>C	NM_080473.4	NP_536721.1:p.(Ala300Pro)	NC_000020.10:g.61040905C>G	(Likely) benign	1 lab	1c90e1e972
X:48117283 SSX1 A>G	X	48117283	48117283	A	G	SSX1	c.172A>G	NM_001278691.1	NP_001265620.1:p.(Met58Val)	NC_000023.10:g.48117283A>G	VUS	1 lab	1c918e05a9
11:73074293 ARHGEF17 C>T	11	73074293	73074293	C	T	ARHGEF17	c.5039C>T	NM_014786.3	NP_055601.2:p.(Thr1680Ile)	NC_000011.9:g.73074293C>T	VUS	1 lab	1c919262f1
16:2230185 CASKIN1 G>A	16	2230185	2230185	G	A	CASKIN1	c.3184C>T	NM_020764.3	NP_065815.1:p.(Arg1062Trp)	NC_000016.9:g.2230185G>A	VUS	1 lab	1c91afa3de
7:100637280 MUC12 G>A	7	100637280	100637280	G	A	MUC12	c.3436G>A	NM_001164462.1	NP_001157934.1:p.(Ala1146Thr)	NC_000007.13:g.100637280G>A	VUS	1 lab	1c91c5fc97
19:34900297 PDCD2L A>G	19	34900297	34900297	A	G	PDCD2L	c.568A>G	NM_032346.2	NP_115722.1:p.(Ile190Val)	NC_000019.9:g.34900297A>G	VUS	1 lab	1c92451dad
7:147869452 CNTNAP2 G>A	7	147869452	147869452	G	A	CNTNAP2	c.2892G>A	NM_014141.5	NP_054860.1:p.(Ser964=)	NC_000007.13:g.147869452G>A	(Likely) benign	1 lab	1c94459f75
X:47041361 RBM10 G>A	X	47041361	47041361	G	A	RBM10	c.1900G>A	NM_001204468.1	NP_001191397.1:p.(Val634Ile)	NC_000023.10:g.47041361G>A	VUS	1 lab	1c949c5968
19:38948704 RYR1 A>G	19	38948704	38948704	A	G	RYR1	c.1939A>G	NM_000540.2	NP_000531.2:p.(Ile647Val)	NC_000019.9:g.38948704A>G	VUS	1 lab	1c955a6df4
9:79996885 VPS13A C>T	9	79996885	79996885	C	T	VPS13A	c.9078-7C>T	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79996885C>T	(Likely) benign	1 lab	1c969507e3
16:88494764 ZNF469 G>A	16	88494764	88494764	G	A	ZNF469				NC_000016.9:g.88494764G>A	(Likely) benign	1 lab	1c993a012a
6:56336896 DST T>C	6	56336896	56336896	T	C	DST	c.15762A>G	NM_001144769.2	NP_001138241.1:p.(Arg5254=)	NC_000006.11:g.56336896T>C	(Likely) benign	1 lab	1c9b8eee5a
1:20975598 PINK1 C>T	1	20975598	20975598	C	T	PINK1	c.1362C>T	NM_032409.2	NP_115785.1:p.(Tyr454=)	NC_000001.10:g.20975598C>T	(Likely) benign	1 lab	1c9bcff5ac
12:56563697 SMARCC2 T>C	12	56563697	56563697	T	C	SMARCC2	c.2320-2A>G	NM_003075.5	NP_003066.2:p.?	NC_000012.11:g.56563697T>C	(Likely) pathogenic	1 lab	e4deeda42d
1:207649585 CR2 T>C	1	207649585	207649585	T	C	CR2	c.2723T>C	NM_001006658.2	NP_001006659.1:p.(Ile908Thr)	NC_000001.10:g.207649585T>C	(Likely) benign	1 lab	1c9d5a3053
2:74596575 DCTN1 C>T	2	74596575	74596575	C	T	DCTN1	c.1436G>A	NM_004082.4	NP_004073.2:p.(Arg479His)	NC_000002.11:g.74596575C>T	VUS	1 lab	1c9e045b8b
10:55582133 PCDH15 A>G	10	55582133	55582133	A	G	PCDH15	c.5374T>C	NM_001142763.1	NP_001136235.1:p.(Ser1792Pro)	NC_000010.10:g.55582133A>G	(Likely) benign	1 lab	1c9fb1d218
8:22873221 RHOBTB2 G>A	8	22873221	22873221	G	A	RHOBTB2	c.1997G>A	NM_001160036.2	NP_001153508.1:p.(Arg666His)	NC_000008.10:g.22873221G>A	(Likely) benign	1 lab	e4e59b1af0
4:84205895 COQ2 C>T	4	84205895	84205895	C	T	COQ2	c.173G>A	NM_015697.8	NP_056512.5:p.(Gly58Glu)	NC_000004.11:g.84205895C>T	(Likely) benign	1 lab	1ca13a7812
10:73111408 SLC29A3 C>T	10	73111408	73111408	C	T	SLC29A3	c.473C>T	NM_001174098.2	NP_001167569.1:p.(Ser158Phe)	NC_000010.10:g.73111408C>T	(Likely) benign	1 lab	e4e6c1f186
X:70384126 NLGN3 G>A	X	70384126	70384126	G	A	NLGN3	c.861G>A	NM_181303.1	NP_851820.1:p.(Ser287=)	NC_000023.10:g.70384126G>A	(Likely) benign	1 lab	1ca33147c0
3:133653652 SLCO2A1 A>G	3	133653652	133653652	A	G	SLCO2A1	c.1837T>C	NM_005630.2	NP_005621.2:p.(Tyr613His)	NC_000003.11:g.133653652A>G	VUS	1 lab	1ca38f317d
7:2054225 MAD1L1 G>A	7	2054225	2054225	G	A	MAD1L1	c.1271C>T	NM_003550.2	NP_003541.2:p.(Pro424Leu)	NC_000007.13:g.2054225G>A	(Likely) benign	1 lab	1ca3b7385d
X:76939503 ATRX G>A	X	76939503	76939503	G	A	ATRX	c.1245C>T	NM_000489.5	NP_000480.3:p.(Ser415=)	NC_000023.10:g.76939503G>A	(Likely) benign	1 lab	1ca4ae7062
16:11003006 CIITA G>A	16	11003006	11003006	G	A	CIITA	c.2781G>A	NM_001286402.1	NP_001273331.1:p.(Lys927=)	NC_000016.9:g.11003006G>A	(Likely) benign	1 lab	1ca5f0a6ac
15:77287791 PSTPIP1 C>T	15	77287791	77287791	C	T	PSTPIP1	c.72C>T	NM_001321137.1	NP_001308066.1:p.(Gly24=)	NC_000015.9:g.77287791C>T	(Likely) benign	1 lab	1ca7222c76
16:75512853 CHST6 C>G	16	75512853	75512853	C	G	CHST6	c.874G>C	NM_021615.5	NP_067628.1:p.(Gly292Arg)	NC_000016.9:g.75512853C>G	VUS	1 lab	1ca73e3874
15:63901307 HERC1 G>A	15	63901307	63901307	G	A	HERC1	c.14559C>T	NM_003922.3	NP_003913.3:p.(Asn4853=)	NC_000015.9:g.63901307G>A	(Likely) benign	1 lab	1ca831a0df
X:135427531 ADGRG4 A>T	X	135427531	135427531	A	T	ADGRG4	c.1666A>T	NM_153834.3	NP_722576.3:p.(Thr556Ser)	NC_000023.10:g.135427531A>T	(Likely) benign	1 lab	1ca9052a4a
4:187524601 FAT1 G>A	4	187524601	187524601	G	A	FAT1	c.11079C>T	NM_005245.3	NP_005236.2:p.(Asp3693=)	NC_000004.11:g.187524601G>A	(Likely) benign	1 lab	1ca9223075
16:1395035 BAIAP3 G>A	16	1395035	1395035	G	A	BAIAP3	c.1980G>A	NM_003933.4	NP_003924.2:p.(Ser660=)	NC_000016.9:g.1395035G>A	(Likely) benign	1 lab	1ca92b1955
15:100881522 ADAMTS17 C>A	15	100881522	100881522	C	A	ADAMTS17	c.172G>T	NM_139057.3	NP_620688.2:p.(Gly58Trp)	NC_000015.9:g.100881522C>A	(Likely) benign	1 lab	1caa450c3b
15:100821452 ADAMTS17 G>A	15	100821452	100821452	G	A	ADAMTS17	c.771C>T	NM_139057.3	NP_620688.2:p.(Ile257=)	NC_000015.9:g.100821452G>A	(Likely) benign	1 lab	1cab3ff474
5:80057418 MSH3 G>A	5	80057418	80057418	G	A	MSH3	c.1817G>A	NM_002439.4	NP_002430.3:p.(Ser606Asn)	NC_000005.9:g.80057418G>A	(Likely) benign	1 lab	1cac226ad3
19:52658958 ZNF836 G>C	19	52658958	52658958	G	C	ZNF836	c.1978C>G	NM_001102657.2	NP_001096127.1:p.(His660Asp)	NC_000019.9:g.52658958G>C	VUS	1 lab	1cac91498a
16:2136801 TSC2 C>T	16	2136801	2136801	C	T	TSC2	c.4918C>T	NM_000548.3	NP_000539.2:p.(His1640Tyr)	NC_000016.9:g.2136801C>T	(Likely) pathogenic	1 lab	1cacf43191
6:53706983 LRRC1 G>A	6	53706983	53706983	G	A	LRRC1	c.235G>A	NM_018214.5	NP_060684.4:p.(Ala79Thr)	NC_000006.11:g.53706983G>A	VUS	1 lab	1cad86be82
7:70246664 AUTS2 C>T	7	70246664	70246664	C	T	AUTS2	c.1996C>T	NM_001127231.2	NP_001120703.1:p.(Pro666Ser)	NC_000007.13:g.70246664C>T	VUS	1 lab	1cae5d6a24
X:53460650 HSD17B10 G>A	X	53460650	53460650	G	A	HSD17B10	c.192+19C>T	NM_004493.3	NP_004484.1:p.?	NC_000023.10:g.53460650G>A	(Likely) benign	1 lab	e4eabd951f
10:55721603 PCDH15 G>T	10	55721603	55721603	G	T	PCDH15	c.2918C>A	NM_001354429.1	NP_001341358.1:p.(Pro973His)	NC_000010.10:g.55721603G>T	VUS	1 lab	1cb0dbc5a4
17:29556042 NF1 G>A	17	29556042	29556042	G	A	NF1	c.2410-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556042G>A	(Likely) pathogenic	1 lab	1cb0efc30b
17:17700295 RAI1 G>T	17	17700295	17700295	G	T	RAI1	c.4033G>T	NM_030665.3	NP_109590.3:p.(Ala1345Ser)	NC_000017.10:g.17700295G>T	(Likely) benign	1 lab	1cb114989e
5:90079783 ADGRV1 A>C	5	90079783	90079783	A	C	ADGRV1	c.13562A>C	NM_032119.4	NP_115495.3:p.(Asn4521Thr)	NC_000005.9:g.90079783A>C	VUS	1 lab	1cb3f5fa54
8:61736563 CHD7 G>C	8	61736563	61736563	G	C	CHD7				NC_000008.10:g.61736563G>C	(Likely) benign	1 lab	1cb4436c87
5:94826670 SKIC3 G>A	5	94826670	94826670	G	A	SKIC3	c.3873C>T	NM_014639.3	NP_055454.1:p.(Asn1291=)	NC_000005.9:g.94826670G>A	(Likely) benign	1 lab	1cb5a8a1d8
X:57934577 ZXDA T>A	X	57934577	57934577	T	A	ZXDA	c.2278A>T	NM_007156.4	NP_009087.1:p.(Asn760Tyr)	NC_000023.10:g.57934577T>A	VUS	1 lab	1cb6ef2886
4:69520834 UGT2B15 A>T	4	69520834	69520834	A	T	UGT2B15	c.1072T>A	NM_001076.3	NP_001067.2:p.(Leu358Ile)	NC_000004.11:g.69520834A>T	(Likely) benign	1 lab	1cb78afc04
9:74319657 CEMIP2 C>T	9	74319657	74319657	C	T	CEMIP2	c.3048G>A	NM_013390.2	NP_037522.1:p.(Pro1016=)	NC_000009.11:g.74319657C>T	(Likely) benign	1 lab	1cb9d89b41
16:21734300 OTOA G>A	16	21734300	21734300	G	A	OTOA	c.1880+1G>A	NM_144672.4	NP_653273.3:p.?	NC_000016.9:g.21734300G>A	(Likely) pathogenic	1 lab	1cb9f20b1c
21:46917524 COL18A1 C>T	21	46917524	46917524	C	T	COL18A1	c.3877C>T	NM_130444.3	NP_569711.2:p.(Pro1293Ser)	NC_000021.8:g.46917524C>T	(Likely) benign	1 lab	1cba923b8b
5:90074361 ADGRV1 A>G	5	90074361	90074361	A	G	ADGRV1	c.12784A>G	NM_032119.4	NP_115495.3:p.(Ser4262Gly)	NC_000005.9:g.90074361A>G	VUS	1 lab	1cbb2e5a03
14:105409182 AHNAK2 C>T	14	105409182	105409182	C	T	AHNAK2	c.12606G>A	NM_138420.3	NP_612429.2:p.(Pro4202=)	NC_000014.8:g.105409182C>T	(Likely) benign	1 lab	1cbc00fbea
4:1807762 FGFR3 C>T	4	1807762	1807762	C	T	FGFR3	c.1837-16C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807762C>T	(Likely) benign	1 lab	40b5da89cd
16:27374948 IL4R CT>C	16	27374948	27374949	CT	C	IL4R	c.2276del	NM_000418.4	NP_000409.1:p.(Leu759ArgfsTer54)	NC_000016.9:g.27374949del	VUS	1 lab	1cbc698875
12:53189239 KRT3 G>A	12	53189239	53189239	G	A	KRT3	c.588C>T	NM_057088.2	NP_476429.2:p.(Ala196=)	NC_000012.11:g.53189239G>A	(Likely) benign	1 lab	1cbd856ac8
14:70490077 SMOC1 C>T	14	70490077	70490077	C	T	SMOC1	c.1204C>T	NM_001034852.2	NP_001030024.1:p.(Arg402Trp)	NC_000014.8:g.70490077C>T	VUS	1 lab	1cbe591894
1:17265536 CROCC C>G	1	17265536	17265536	C	G	CROCC	c.1507C>G	NM_014675.5	NP_055490.4:p.(Arg503Gly)	NC_000001.10:g.17265536C>G	VUS	1 lab	1cc1021853
10:73573061 CDH23 C>G	10	73573061	73573061	C	G	CDH23	c.9694C>G	NM_022124.5	NP_071407.4:p.(Arg3232Gly)	NC_000010.10:g.73573061C>G	VUS	1 lab	1cc226dc5b
17:61278301 TANC2 G>A	17	61278301	61278301	G	A	TANC2	c.530G>A	NM_025185.4	NP_079461.2:p.(Arg177Lys)	NC_000017.10:g.61278301G>A	VUS	1 lab	e4ef3db967
1:6007165 NPHP4 T>C	1	6007165	6007165	T	C	NPHP4	c.1118A>G	NM_015102.4	NP_055917.1:p.(Asn373Ser)	NC_000001.10:g.6007165T>C	VUS	1 lab	1cc5783cc9
2:163137930 IFIH1 C>T	2	163137930	163137930	C	T	IFIH1	c.1432G>A	NM_022168.4	NP_071451.2:p.(Val478Met)	NC_000002.11:g.163137930C>T	(Likely) benign	1 lab	1cc6aab9db
10:73570308 CDH23 G>A	10	73570308	73570308	G	A	CDH23	c.9059G>A	NM_022124.5	NP_071407.4:p.(Arg3020His)	NC_000010.10:g.73570308G>A	VUS	1 lab	1cc7ef7358
4:39201181 WDR19 G>A	4	39201181	39201181	G	A	WDR19	c.490G>A	NM_025132.3	NP_079408.3:p.(Val164Ile)	NC_000004.11:g.39201181G>A	(Likely) benign	1 lab	1cca01193a
X:15591517 ACE2 T>C	X	15591517	15591517	T	C	ACE2	c.1514A>G	NM_021804.2	NP_068576.1:p.(His505Arg)	NC_000023.10:g.15591517T>C	VUS	1 lab	1ccb7e4d29
19:11609122 ZNF653 T>C	19	11609122	11609122	T	C	ZNF653	c.332A>G	NM_138783.4	NP_620138.2:p.(Lys111Arg)	NC_000019.9:g.11609122T>C	(Likely) benign	1 lab	1ccdf04df8
1:237774233 RYR2 G>A	1	237774233	237774233	G	A	RYR2	c.4855G>A	NM_001035.2	NP_001026.2:p.(Val1619Met)	NC_000001.10:g.237774233G>A	VUS	1 lab	1cd12bff12
3:98299547 CPOX G>A	3	98299547	98299547	G	A	CPOX	c.1345C>T	NM_000097.7	NP_000088.3:p.(Pro449Ser)	NC_000003.11:g.98299547G>A	(Likely) pathogenic	1 lab	1cd1bc62f4
2:101564788 NPAS2 C>T	2	101564788	101564788	C	T	NPAS2	c.455C>T	NM_002518.3	NP_002509.2:p.(Thr152Met)	NC_000002.11:g.101564788C>T	VUS	1 lab	1cd1c2e853
5:156638290 ITK G>A	5	156638290	156638290	G	A	ITK	c.244-8G>A	NM_005546.3	NP_005537.3:p.?	NC_000005.9:g.156638290G>A	(Likely) benign	1 lab	1cd1c45867
17:18064652 MYO15A G>C	17	18064652	18064652	G	C	MYO15A	c.9408G>C	NM_016239.3	NP_057323.3:p.(Trp3136Cys)	NC_000017.10:g.18064652G>C	VUS	1 lab	1cd30460dc
19:17945765 JAK3 C>A	19	17945765	17945765	C	A	JAK3	c.2095G>T	NM_000215.3	NP_000206.2:p.(Ala699Ser)	NC_000019.9:g.17945765C>A	(Likely) benign	1 lab	1cd7a79db6
X:1718094 AKAP17A G>C	X	1718094	1718094	G	C	AKAP17A	c.921G>C	NM_005088.2	NP_005079.2:p.(Lys307Asn)	NC_000023.10:g.1718094G>C	(Likely) benign	1 lab	1cd7c7c469
2:238671854 LRRFIP1 G>A	2	238671854	238671854	G	A	LRRFIP1	c.1498G>A	NM_001137552.1	NP_001131024.1:p.(Glu500Lys)	NC_000002.11:g.238671854G>A	(Likely) benign	1 lab	1cd8329196
4:55161324 PDGFRA C>T	4	55161324	55161324	C	T	PDGFRA	c.3155C>T	NM_006206.4	NP_006197.1:p.(Thr1052Met)	NC_000004.11:g.55161324C>T	VUS	1 lab	1cd8736a40
7:103244940 RELN C>T	7	103244940	103244940	C	T	RELN	c.3009-10G>A	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103244940C>T	(Likely) benign	1 lab	1cd8c2204f
X:24690692 PCYT1B G>A	X	24690692	24690692	G	A	PCYT1B	c.58C>T	NM_001163264.1	NP_001156736.1:p.(Arg20Cys)	NC_000023.10:g.24690692G>A	(Likely) benign	1 lab	1cda514cd0
16:2112576 TSC2 C>T	16	2112576	2112576	C	T	TSC2	c.1336C>T	NM_000548.3	NP_000539.2:p.(Gln446Ter)	NC_000016.9:g.2112576C>T	(Likely) pathogenic	1 lab	1cdb54a97f
17:29585520 NF1 G>A	17	29585520	29585520	G	A	NF1	c.4269G>A	NM_000267.3	NP_000258.1:p.(Lys1423=)	NC_000017.10:g.29585520G>A	(Likely) pathogenic	1 lab	1cdc7beb5d
2:73519428 EGR4 C>A	2	73519428	73519428	C	A	EGR4	c.618G>T	NM_001965.4	NP_001956.4:p.(Ala206=)	NC_000002.11:g.73519428C>A	(Likely) benign	1 lab	1cdd6789de
7:120450632 TSPAN12 TAAAAAGC>T	7	120450632	120450643	TAAAAAGC	T	TSPAN12	c.361-15_361-9del	NM_012338.4	NP_036470.1:p.?	NC_000007.13:g.120450637_120450643del	(Likely) benign	1 lab	1cde00ef62
17:41249314 BRCA1 AT>A	17	41249314	41249317	AT	A	BRCA1	c.548-9del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249317del	(Likely) benign	1 lab	1cdff3d3fa
1:185894231 HMCN1 G>C	1	185894231	185894231	G	C	HMCN1	c.1338G>C	NM_031935.2	NP_114141.2:p.(Pro446=)	NC_000001.10:g.185894231G>C	(Likely) benign	1 lab	1ce14a87e2
6:152658044 SYNE1 G>A	6	152658044	152658044	G	A	SYNE1	c.12460C>T	NM_182961.3	NP_892006.3:p.(Gln4154Ter)	NC_000006.11:g.152658044G>A	(Likely) pathogenic	1 lab	1ce1915374
1:160011477 KCNJ10 G>T	1	160011477	160011477	G	T	KCNJ10	c.846C>A	NM_002241.4	NP_002232.2:p.(Ile282=)	NC_000001.10:g.160011477G>T	(Likely) benign	1 lab	1ce1dc68eb
7:82580339 PCLO C>T	7	82580339	82580339	C	T	PCLO	c.9565G>A	NM_033026.5	NP_149015.2:p.(Glu3189Lys)	NC_000007.13:g.82580339C>T	VUS	1 lab	1ce20633ea
21:47539720 COL6A2 G>A	21	47539720	47539720	G	A	COL6A2	c.1288G>A	NM_058175.2	NP_478055.2:p.(Gly430Ser)	NC_000021.8:g.47539720G>A	VUS	1 lab	1ce646c9f2
5:178419000 GRM6 C>T	5	178419000	178419000	C	T	GRM6	c.589G>A	NM_000843.4	NP_000834.2:p.(Asp197Asn)	NC_000005.9:g.178419000C>T	VUS	1 lab	1ce6a866f7
22:50682847 TUBGCP6 G>T	22	50682847	50682847	G	T	TUBGCP6	c.42C>A	NM_020461.3	NP_065194.2:p.(Ala14=)	NC_000022.10:g.50682847G>T	(Likely) benign	1 lab	1ce79da044
22:30057330 NF2 T>C	22	30057330	30057330	T	C	NF2	c.810+2T>C	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30057330T>C	(Likely) pathogenic	1 lab	1ce82f0706
2:234113005 MISSING G>A	2	234113005	234113005	G	A	MISSING				NC_000002.11:g.234113005G>A	(Likely) benign	1 lab	1cebce01bd
8:144998604 PLEC C>T	8	144998604	144998604	C	T	PLEC	c.5904G>A	NM_201380.3	NP_958782.1:p.(Ala1968=)	NC_000008.10:g.144998604C>T	(Likely) benign	1 lab	1cec77fbfb
17:7127503 ACADVL A>G	17	7127503	7127503	A	G	ACADVL	c.1245A>G	NM_001270448.1	NP_001257377.1:p.(Leu415=)	NC_000017.10:g.7127503A>G	(Likely) benign	1 lab	1cecb77d39
3:123418912 MYLK C>T	3	123418912	123418912	C	T	MYLK	c.3403G>A	NM_053025.3	NP_444253.3:p.(Gly1135Arg)	NC_000003.11:g.123418912C>T	VUS	1 lab	1cee0cd5c5
11:108198392 ATM T>C	11	108198392	108198392	T	C	ATM	c.6996T>C	NM_001351834.2	NP_001338763.1:p.(Leu2332=)	NC_000011.9:g.108198392T>C	(Likely) benign	1 lab	e4f0d96f87
17:59885836 BRIP1 C>T	17	59885836	59885836	C	T	BRIP1	c.910G>A	NM_032043.2	NP_114432.2:p.(Gly304Arg)	NC_000017.10:g.59885836C>T	VUS	1 lab	1cee9f8d4c
1:220325047 RAB3GAP2 C>A	1	220325047	220325047	C	A	RAB3GAP2	c.3927G>T	NM_012414.3	NP_036546.2:p.(Gly1309=)	NC_000001.10:g.220325047C>A	(Likely) benign	1 lab	1cef9a01a7
11:65307982 LTBP3 G>A	11	65307982	65307982	G	A	LTBP3	c.3081C>T	NM_001130144.2	NP_001123616.1:p.(Tyr1027=)	NC_000011.9:g.65307982G>A	(Likely) benign	1 lab	1cf0935249
16:1255132 CACNA1H G>A	16	1255132	1255132	G	A	CACNA1H	c.2470G>A	NM_021098.3	NP_066921.2:p.(Ala824Thr)	NC_000016.9:g.1255132G>A	VUS	1 lab	e4f1fbe0dd
6:76618311 MYO6 G>A	6	76618311	76618311	G	A	MYO6	c.3379G>A	NM_004999.3	NP_004990.3:p.(Glu1127Lys)	NC_000006.11:g.76618311G>A	VUS	1 lab	1cf13da568
6:108233922 SEC63 G>A	6	108233922	108233922	G	A	SEC63	c.571C>T	NM_007214.4	NP_009145.1:p.(Leu191=)	NC_000006.11:g.108233922G>A	(Likely) benign	1 lab	1cf1f56458
2:239233989 TRAF3IP1 G>A	2	239233989	239233989	G	A	TRAF3IP1	c.166G>A	NM_015650.3	NP_056465.2:p.(Ala56Thr)	NC_000002.11:g.239233989G>A	(Likely) benign	1 lab	1cf2135419
16:50830354 CYLD C>T	16	50830354	50830354	C	T	CYLD	c.2806C>T	NM_015247.2	NP_056062.1:p.(Arg936Ter)	NC_000016.9:g.50830354C>T	(Likely) pathogenic	1 lab	1cf3611cc5
19:325650 MIER2 G>A	19	325650	325650	G	A	MIER2	c.640C>T	NM_017550.2	NP_060020.1:p.(Arg214Trp)	NC_000019.9:g.325650G>A	VUS	1 lab	1cf3e840cb
12:80660351 OTOGL C>T	12	80660351	80660351	C	T	OTOGL	c.2318C>T	NM_173591.3	NP_775862.3:p.(Pro773Leu)	NC_000012.11:g.80660351C>T	VUS	1 lab	1cf5d75a9f
10:74953294 FAM149B1 C>G	10	74953294	74953294	C	G	FAM149B1	c.485C>G	NM_173348.1	NP_775483.1:p.(Pro162Arg)	NC_000010.10:g.74953294C>G	VUS	1 lab	1cf5dc4ebf
16:28495335 CLN3 G>A	16	28495335	28495335	G	A	CLN3	c.782C>T	NM_001042432.1	NP_001035897.1:p.(Ser261Leu)	NC_000016.9:g.28495335G>A	VUS	1 lab	1cf85d9874
6:7579861 DSP G>C	6	7579861	7579861	G	C	DSP	c.3438G>C	NM_004415.2	NP_004406.2:p.(Arg1146Ser)	NC_000006.11:g.7579861G>C	VUS	1 lab	1cf9ac17b6
16:81411094 GAN T>G	16	81411094	81411094	T	G	GAN	c.1687T>G	NM_022041.3	NP_071324.1:p.(Ser563Ala)	NC_000016.9:g.81411094T>G	VUS	1 lab	1cfa189131
20:33001628 ITCH G>A	20	33001628	33001628	G	A	ITCH	c.418G>A	NM_001324197.1	NP_001311126.1:p.(Asp140Asn)	NC_000020.10:g.33001628G>A	VUS	1 lab	1cfa527c60
15:43086834 TTBK2 G>T	15	43086834	43086834	G	T	TTBK2	c.980+8C>A	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43086834G>T	(Likely) benign	1 lab	1cfa5b3c5e
5:150946816 FAT2 G>A	5	150946816	150946816	G	A	FAT2	c.1677C>T	NM_001447.2	NP_001438.1:p.(Asp559=)	NC_000005.9:g.150946816G>A	(Likely) benign	1 lab	1cfbaf0522
1:152277252 FLG C>A	1	152277252	152277252	C	A	FLG	c.10110G>T	NM_002016.1	NP_002007.1:p.(Glu3370Asp)	NC_000001.10:g.152277252C>A	VUS	1 lab	1cfd343d9e
20:8352102 PLCB1 G>C	20	8352102	8352102	G	C	PLCB1	c.246+5G>C	NM_182734.2	NP_877398.1:p.?	NC_000020.10:g.8352102G>C	VUS	1 lab	1cfe457b38
11:108121531 ATM C>T	11	108121531	108121531	C	T	ATM	c.1339C>T	NM_000051.4	NP_000042.3:p.(Arg447Ter)	NC_000011.9:g.108121531C>T	(Likely) pathogenic	1 lab	e4f3d29df9
12:124175086 TCTN2 C>T	12	124175086	124175086	C	T	TCTN2	c.898C>T	NM_024809.4	NP_079085.2:p.(Leu300=)	NC_000012.11:g.124175086C>T	(Likely) benign	1 lab	1d01fd0854
22:32495283 SLC5A1 C>CT	22	32495283	32495284	C	CT	SLC5A1	c.1394_1395insT	NM_000343.4	NP_000334.1:p.(Pro466ThrfsTer17)	NC_000022.10:g.32495283_32495284insT	(Likely) pathogenic	1 lab	e4f8000b4b
10:99498283 ZFYVE27 G>A	10	99498283	99498283	G	A	ZFYVE27	c.49G>A	NM_144588.6	NP_653189.3:p.(Val17Met)	NC_000010.10:g.99498283G>A	(Likely) benign	1 lab	1d029a84e8
14:32030647 NUBPL T>C	14	32030647	32030647	T	C	NUBPL	c.2T>C	NM_025152.2	NP_079428.2:p.(Met1?)	NC_000014.8:g.32030647T>C	VUS	1 lab	1d0373fcc3
X:133378987 CCDC160 A>G	X	133378987	133378987	A	G	CCDC160	c.157A>G	NM_001101357.2	NP_001094827.1:p.(Arg53Gly)	NC_000023.10:g.133378987A>G	VUS	1 lab	1d047e4d58
17:18041441 MYO15A C>T	17	18041441	18041441	C	T	MYO15A	c.4888C>T	NM_016239.3	NP_057323.3:p.(Arg1630Cys)	NC_000017.10:g.18041441C>T	VUS	1 lab	1d05376a5f
19:16606910 CALR3 T>C	19	16606910	16606910	T	C	CALR3	c.31A>G	NM_145046.4	NP_659483.2:p.(Ile11Val)	NC_000019.9:g.16606910T>C	(Likely) benign	1 lab	1d053da48f
1:197102672 ASPM G>T	1	197102672	197102672	G	T	ASPM	c.2227C>A	NM_018136.4	NP_060606.3:p.(Pro743Thr)	NC_000001.10:g.197102672G>T	VUS	1 lab	1d059a5f66
1:112322870 KCND3 G>A	1	112322870	112322870	G	A	KCND3	c.1438C>T	NM_004980.4	NP_004971.2:p.(Leu480=)	NC_000001.10:g.112322870G>A	(Likely) benign	1 lab	1d05fbd4fa
1:145416806 HJV C>T	1	145416806	145416806	C	T	HJV	c.1151C>T	NM_213653.3	NP_998818.1:p.(Ala384Val)	NC_000001.10:g.145416806C>T	VUS	1 lab	1d0601459b
15:85788498 GOLGA6L3P T>TCTGCAGGAGCTGGAGAGG	15	85788498	85788520	T	TCTGCAGGAGCTGGAGAGG	GOLGA6L3P	c.1196_1213dup	NM_001310153.1	NP_001297082.1:p.(Gln399_Leu404dup)	NC_000015.9:g.85788503_85788520dup	(Likely) benign	1 lab	1d064ff3b2
10:17110639 CUBN T>C	10	17110639	17110639	T	C	CUBN	c.2756A>G	NM_001081.3	NP_001072.2:p.(His919Arg)	NC_000010.10:g.17110639T>C	(Likely) benign	1 lab	1d133e1247
2:179484495 TTN T>C	2	179484495	179484495	T	C	TTN	c.46549A>G	NM_001267550.1	NP_001254479.1:p.(Met15517Val)	NC_000002.11:g.179484495T>C	(Likely) benign	1 lab	1d066ddaef
3:113377657 USF3 C>T	3	113377657	113377657	C	T	USF3	c.2872G>A	NM_001009899.3	NP_001009899.3:p.(Val958Ile)	NC_000003.11:g.113377657C>T	(Likely) benign	1 lab	1d0784a432
1:10335487 KIF1B G>A	1	10335487	10335487	G	A	KIF1B				NC_000001.10:g.10335487G>A	(Likely) benign	1 lab	1d0876c924
4:103553447 MANBA G>GA	4	103553447	103553458	G	GA	MANBA	c.2416-10dup	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103553458dup	(Likely) benign	1 lab	1d0958a663
19:1081833 ARHGAP45 G>A	19	1081833	1081833	G	A	ARHGAP45	c.2390G>A	NM_012292.4	NP_036424.2:p.(Arg797Gln)	NC_000019.9:g.1081833G>A	VUS	1 lab	1d0990aad0
7:116418985 MET C>T	7	116418985	116418985	C	T	MET	c.3550C>T	NM_001127500.1	NP_001120972.1:p.(Arg1184Ter)	NC_000007.13:g.116418985C>T	VUS	1 lab	1d09e61c6c
4:122747146 BBS7 T>A	4	122747146	122747146	T	A	BBS7	c.2017A>T	NM_176824.2	NP_789794.1:p.(Met673Leu)	NC_000004.11:g.122747146T>A	VUS	1 lab	1d0a14834a
20:48431650 SLC9A8 C>T	20	48431650	48431650	C	T	SLC9A8	c.132C>T	NM_001260491.1	NP_001247420.1:p.(Pro44=)	NC_000020.10:g.48431650C>T	(Likely) benign	1 lab	1d0b891662
X:125955311 PRR32 G>A	X	125955311	125955311	G	A	PRR32	c.690G>A	NM_001122716.1	NP_001116188.1:p.(Pro230=)	NC_000023.10:g.125955311G>A	(Likely) benign	1 lab	1d0c3c9172
20:62614448 PRPF6 A>G	20	62614448	62614448	A	G	PRPF6	c.120A>G	NM_012469.3	NP_036601.2:p.(Ala40=)	NC_000020.10:g.62614448A>G	(Likely) benign	1 lab	1d0d1b69bb
2:7005670 CMPK2 C>A	2	7005670	7005670	C	A	CMPK2	c.158G>T	NM_207315.3	NP_997198.2:p.(Gly53Val)	NC_000002.11:g.7005670C>A	(Likely) benign	1 lab	1d0e3cd23a
18:21148862 NPC1 C>T	18	21148862	21148862	C	T	NPC1	c.388G>A	NM_000271.4	NP_000262.2:p.(Val130Ile)	NC_000018.9:g.21148862C>T	(Likely) benign	1 lab	1d0f7b6cec
16:2131637 TSC2 CCTTTCTCCTCGGACATCA>C	16	2131637	2131655	CCTTTCTCCTCGGACATCA	C	TSC2	c.3653_3670del	NM_000548.5	NP_000539.2:p.(Pro1218_Asn1224delinsHis)	NC_000016.9:g.2131638_2131655del	(Likely) pathogenic	1 lab	1d137233ee
21:47538521 COL6A2 C>A	21	47538521	47538521	C	A	COL6A2	c.1117-7C>A	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47538521C>A	VUS	1 lab	1d149fa5d5
2:170103488 LRP2 C>T	2	170103488	170103488	C	T	LRP2	c.2917G>A	NM_004525.3	NP_004516.2:p.(Ala973Thr)	NC_000002.11:g.170103488C>T	(Likely) benign	1 lab	1d15f9cd53
8:10468989 RP1L1 G>A	8	10468989	10468989	G	A	RP1L1	c.2619C>T	NM_178857.5	NP_849188.4:p.(Thr873=)	NC_000008.10:g.10468989G>A	(Likely) benign	1 lab	1d16493388
22:17581286 IL17RA G>C	22	17581286	17581286	G	C	IL17RA	c.465G>C	NM_014339.6	NP_055154.3:p.(Gln155His)	NC_000022.10:g.17581286G>C	VUS	1 lab	1d167a69ea
9:97934411 FANCC GTA>G	9	97934411	97934416	GTA	G	FANCC	c.362_363del	NM_000136.3	NP_000127.2:p.(Ile121ThrfsTer7)	NC_000009.11:g.97934415_97934416del	(Likely) pathogenic	1 lab	1d1899bec5
22:27021425 CRYBA4 A>G	22	27021425	27021425	A	G	CRYBA4	c.159-20A>G	NM_001886.3	NP_001877.1:p.?	NC_000022.10:g.27021425A>G	(Likely) benign	1 lab	e4f822fb4b
6:43970553 MISSING C>T	6	43970553	43970553	C	T	MISSING				NC_000006.11:g.43970553C>T	(Likely) benign	1 lab	1d1c6621aa
2:220432656 OBSL1 C>T	2	220432656	220432656	C	T	OBSL1	c.1318G>A	NM_015311.2	NP_056126.1:p.(Val440Ile)	NC_000002.11:g.220432656C>T	VUS	1 lab	1d21e3a57d
16:333270 PDIA2 C>T	16	333270	333270	C	T	PDIA2	c.101C>T	NM_006849.3	NP_006840.2:p.(Pro34Leu)	NC_000016.9:g.333270C>T	(Likely) benign	1 lab	1d21efcb55
3:15686630 BTD T>C	3	15686630	15686630	T	C	BTD	c.1267T>C	NM_000060.4	NP_000051.1:p.(Cys423Arg)	NC_000003.11:g.15686630T>C	(Likely) pathogenic	1 lab	1d228b3980
1:12885159 PRAMEF11 C>G	1	12885159	12885159	C	G	PRAMEF11	c.1078G>C	NM_001146344.2	NP_001139816.2:p.(Asp360His)	NC_000001.10:g.12885159C>G	VUS	1 lab	1d22fd1c19
X:153171277 AVPR2 G>A	X	153171277	153171277	G	A	AVPR2	c.317G>A	NM_001146151.2	NP_001139623.1:p.(Arg106His)	NC_000023.10:g.153171277G>A	(Likely) benign	1 lab	1d24654a62
16:54319743 IRX3 C>A	16	54319743	54319743	C	A	IRX3	c.220G>T	NM_024336.3	NP_077312.2:p.(Gly74Cys)	NC_000016.9:g.54319743C>A	VUS	1 lab	1d2466dabc
2:29755003 ALK C>T	2	29755003	29755003	C	T	ALK				NC_000002.11:g.29755003C>T	(Likely) benign	1 lab	1d24996d69
21:45709643 AIRE G>A	21	45709643	45709643	G	A	AIRE				NC_000021.8:g.45709643G>A	(Likely) benign	1 lab	1d26ebf51d
X:53966697 PHF8 G>A	X	53966697	53966697	G	A	PHF8	c.2902C>T	NM_015107.2	NP_055922.1:p.(Arg968Cys)	NC_000023.10:g.53966697G>A	VUS	1 lab	1d2a844b1b
X:128691838 OCRL C>T	X	128691838	128691838	C	T	OCRL	c.353C>T	NM_001318784.1	NP_001305713.1:p.(Ala118Val)	NC_000023.10:g.128691838C>T	VUS	1 lab	1d2bb1f8cb
X:36371751 CFAP47 G>A	X	36371751	36371751	G	A	CFAP47	c.8806G>A	NM_001304548.1	NP_001291477.1:p.(Val2936Met)	NC_000023.10:g.36371751G>A	(Likely) benign	1 lab	1d2d3c7334
1:8716306 RERE T>TCGGTCC	1	8716306	8716318	T	TCGGTCC	RERE	c.45_50dup	NM_012102.3	NP_036234.3:p.(Asp20_Arg21dup)	NC_000001.10:g.8716313_8716318dup	(Likely) benign	1 lab	1d2d3f3337
5:89949543 ADGRV1 G>T	5	89949543	89949543	G	T	ADGRV1	c.4152G>T	NM_032119.4	NP_115495.3:p.(Gly1384=)	NC_000005.9:g.89949543G>T	(Likely) benign	1 lab	1d2e245f95
19:17017792 MISSING G>A	19	17017792	17017792	G	A	MISSING				NC_000019.9:g.17017792G>A	VUS	1 lab	1d2f8f19bb
5:141337348 PCDH12 A>G	5	141337348	141337348	A	G	PCDH12	c.69T>C	NM_016580.3	NP_057664.1:p.(Asp23=)	NC_000005.9:g.141337348A>G	(Likely) benign	1 lab	1d3016e37d
8:140631011 KCNK9 G>A	8	140631011	140631011	G	A	KCNK9	c.615C>T	NM_001282534.1	NP_001269463.1:p.(Tyr205=)	NC_000008.10:g.140631011G>A	(Likely) benign	1 lab	1d31dfbf17
1:63885050 ALG6 G>C	1	63885050	63885050	G	C	ALG6	c.997G>C	NM_013339.4	NP_037471.2:p.(Ala333Pro)	NC_000001.10:g.63885050G>C	(Likely) pathogenic	1 lab	1d327e83b4
1:11074031 TARDBP C>T	1	11074031	11074031	C	T	TARDBP	c.238+9C>T	NM_007375.3	NP_031401.1:p.?	NC_000001.10:g.11074031C>T	(Likely) benign	1 lab	1d329046b4
1:152278198 FLG G>A	1	152278198	152278198	G	A	FLG	c.9164C>T	NM_002016.1	NP_002007.1:p.(Thr3055Met)	NC_000001.10:g.152278198G>A	(Likely) benign	1 lab	1d32b23de7
4:183673011 TENM3 G>A	4	183673011	183673011	G	A	TENM3	c.3688G>A	NM_001080477.3	NP_001073946.1:p.(Val1230Ile)	NC_000004.11:g.183673011G>A	(Likely) benign	1 lab	1d338a5a22
9:140087024 TPRN T>TTCC	9	140087024	140087052	T	TTCC	TPRN	c.1842_1844dup	NM_001128228.3	NP_001121700.2:p.(Glu621dup)	NC_000009.11:g.140087050_140087052dup	(Likely) benign	1 lab	1d33e8498d
2:241661251 KIF1A G>A	2	241661251	241661251	G	A	KIF1A	c.4716C>T	NM_001244008.1	NP_001230937.1:p.(His1572=)	NC_000002.11:g.241661251G>A	(Likely) benign	1 lab	1d3462345b
18:21119291 NPC1 A>G	18	21119291	21119291	A	G	NPC1	c.2911+28T>C	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21119291A>G	(Likely) benign	1 lab	1d36a97d9d
22:29107961 CHEK2 CAT>C	22	29107961	29107963	CAT	C	CHEK2	c.726_727del	NM_007194.4	NP_009125.1:p.(Cys243Ter)	NC_000022.10:g.29107962_29107963del	(Likely) pathogenic	1 lab	e4f97bb30a
X:209722 PLCXD1 G>T	X	209722	209722	G	T	PLCXD1	c.570G>T	NM_018390.3	NP_060860.1:p.(Gln190His)	NC_000023.10:g.209722G>T	(Likely) benign	1 lab	1d376a2e19
21:46916964 COL18A1 G>T	21	46916964	46916964	G	T	COL18A1	c.3823G>T	NM_130444.3	NP_569711.2:p.(Val1275Leu)	NC_000021.8:g.46916964G>T	(Likely) benign	1 lab	1d384a40db
14:76905839 ESRRB C>T	14	76905839	76905839	C	T	ESRRB	c.143C>T	NM_004452.3	NP_004443.3:p.(Ala48Val)	NC_000014.8:g.76905839C>T	(Likely) benign	1 lab	1d386ca820
16:71686860 PHLPP2 T>C	16	71686860	71686860	T	C	PHLPP2	c.2449A>G	NM_001289003.1	NP_001275932.1:p.(Thr817Ala)	NC_000016.9:g.71686860T>C	(Likely) benign	1 lab	1d3930c4d3
14:55312502 GCH1 C>T	14	55312502	55312502	C	T	GCH1	c.610G>A	NM_000161.2	NP_000152.1:p.(Val204Ile)	NC_000014.8:g.55312502C>T	VUS	1 lab	1d3966d01b
2:15519814 NBAS C>T	2	15519814	15519814	C	T	NBAS	c.3502G>A	NM_015909.3	NP_056993.2:p.(Glu1168Lys)	NC_000002.11:g.15519814C>T	VUS	1 lab	1d3de3d9b3
20:60905560 LAMA5 G>A	20	60905560	60905560	G	A	LAMA5	c.3963C>T	NM_005560.4	NP_005551.3:p.(Ala1321=)	NC_000020.10:g.60905560G>A	(Likely) benign	1 lab	1d3e335803
12:51034593 DIP2B C>T	12	51034593	51034593	C	T	DIP2B	c.259C>T	NM_173602.2	NP_775873.2:p.(Arg87Ter)	NC_000012.11:g.51034593C>T	VUS	1 lab	1d3ee29955
7:5353205 TNRC18 C>T	7	5353205	5353205	C	T	TNRC18	c.7317G>A	NM_001080495.2	NP_001073964.2:p.(Lys2439=)	NC_000007.13:g.5353205C>T	(Likely) benign	1 lab	1d420612a5
X:135314332 MAP7D3 G>A	X	135314332	135314332	G	A	MAP7D3	c.679C>T	NM_001173517.1	NP_001166988.1:p.(Arg227Cys)	NC_000023.10:g.135314332G>A	(Likely) benign	1 lab	1d43e8e334
9:136320580 ADAMTS13 C>T	9	136320580	136320580	C	T	ADAMTS13	c.3423C>T	NM_139025.4	NP_620594.1:p.(His1141=)	NC_000009.11:g.136320580C>T	(Likely) benign	1 lab	1d45713f06
14:39514441 SEC23A G>A	14	39514441	39514441	G	A	SEC23A	c.1825C>T	NM_006364.3	NP_006355.2:p.(Arg609Cys)	NC_000014.8:g.39514441G>A	VUS	1 lab	1d45db8b1a
16:57993978 CNGB1 C>T	16	57993978	57993978	C	T	CNGB1	c.584-9G>A	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57993978C>T	(Likely) benign	1 lab	1d470944ea
5:89985749 ADGRV1 T>C	5	89985749	89985749	T	C	ADGRV1	c.6562T>C	NM_032119.4	NP_115495.3:p.(Tyr2188His)	NC_000005.9:g.89985749T>C	VUS	1 lab	1d47d8efce
13:41383714 SLC25A15 A>G	13	41383714	41383714	A	G	SLC25A15	c.817A>G	NM_014252.3	NP_055067.1:p.(Met273Val)	NC_000013.10:g.41383714A>G	(Likely) benign	1 lab	1d4a2b44ca
17:66416504 ARSG T>C	17	66416504	66416504	T	C	ARSG	c.1478T>C	NM_014960.4	NP_055775.2:p.(Ile493Thr)	NC_000017.10:g.66416504T>C	VUS	1 lab	1d4c6afdba
11:74705718 NEU3 C>A	11	74705718	74705718	C	A	NEU3	c.259C>A	NM_006656.6	NP_006647.3:p.(Leu87Ile)	NC_000011.9:g.74705718C>A	(Likely) benign	1 lab	1d4d4aa365
17:44060574 MAPT G>T	17	44060574	44060574	G	T	MAPT	c.404G>T	NM_001123066.3	NP_001116538.2:p.(Gly135Val)	NC_000017.10:g.44060574G>T	(Likely) benign	1 lab	1d4d959d67
18:59824378 PIGN C>G	18	59824378	59824378	C	G	PIGN	c.426G>C	NM_176787.4	NP_789744.1:p.(Leu142=)	NC_000018.9:g.59824378C>G	(Likely) benign	1 lab	1d4df8e1ca
1:181058540 IER5 G>T	1	181058540	181058540	G	T	IER5	c.502G>T	NM_016545.4	NP_057629.2:p.(Val168Leu)	NC_000001.10:g.181058540G>T	(Likely) benign	1 lab	1d526843fc
17:29679394 NF1 T>TGG	17	29679394	29679398	T	TGG	NF1	c.7517_7518dup	NM_000267.3	NP_000258.1:p.(Gln2507GlyfsTer21)	NC_000017.10:g.29679397_29679398dup	(Likely) pathogenic	1 lab	1d53a2c8d7
16:1278674 TPSB2 G>A	16	1278674	1278674	G	A	TPSB2	c.804C>T	NM_024164.5	NP_077078.5:p.(His268=)	NC_000016.9:g.1278674G>A	(Likely) benign	1 lab	1d541a2cfa
1:92446249 BRDT G>A	1	92446249	92446249	G	A	BRDT	c.1118G>A	NM_001242810.2	NP_001229739.2:p.(Arg373His)	NC_000001.10:g.92446249G>A	(Likely) benign	1 lab	1d5498f6a3
11:66472164 SPTBN2 G>A	11	66472164	66472164	G	A	SPTBN2	c.2583C>T	NM_006946.3	NP_008877.1:p.(Ala861=)	NC_000011.9:g.66472164G>A	(Likely) benign	1 lab	1d54b9a79a
X:119760952 C1GALT1C1 T>C	X	119760952	119760952	T	C	C1GALT1C1	c.70A>G	NM_152692.4	NP_689905.1:p.(Met24Val)	NC_000023.10:g.119760952T>C	(Likely) benign	1 lab	1d54cb296d
17:29576001 NF1 G>T	17	29576001	29576001	G	T	NF1	c.3975-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576001G>T	(Likely) pathogenic	1 lab	1d57683dd1
15:28447506 HERC2 T>C	15	28447506	28447506	T	C	HERC2	c.7467A>G	NM_004667.5	NP_004658.3:p.(Ala2489=)	NC_000015.9:g.28447506T>C	(Likely) benign	1 lab	1d578db7a2
2:73646417 ALMS1 A>T	2	73646417	73646417	A	T	ALMS1	c.620A>T	NM_015120.4	NP_055935.4:p.(Asn207Ile)	NC_000002.11:g.73646417A>T	VUS	1 lab	1d585c72e4
17:6329039 AIPL1 T>C	17	6329039	6329039	T	C	AIPL1	c.896A>G	NM_014336.4	NP_055151.3:p.(Lys299Arg)	NC_000017.10:g.6329039T>C	VUS	1 lab	1d58ae3a0e
17:29557904 NF1 C>A	17	29557904	29557904	C	A	NF1	c.3158C>A	NM_000267.3	NP_000258.1:p.(Ser1053Ter)	NC_000017.10:g.29557904C>A	(Likely) pathogenic	1 lab	1d58e22aad
11:65314303 LTBP3 A>C	11	65314303	65314303	A	C	LTBP3	c.2196T>G	NM_001130144.2	NP_001123616.1:p.(Pro732=)	NC_000011.9:g.65314303A>C	(Likely) benign	1 lab	1d59687737
16:1841545 IGFALS G>C	16	1841545	1841545	G	C	IGFALS	c.988C>G	NM_001146006.1	NP_001139478.1:p.(Leu330Val)	NC_000016.9:g.1841545G>C	VUS	1 lab	1d59eccebd
16:88794069 PIEZO1 T>A	16	88794069	88794069	T	A	PIEZO1	c.3197A>T	NM_001142864.4	NP_001136336.2:p.(Asp1066Val)	NC_000016.9:g.88794069T>A	VUS	1 lab	1d5b22edde
16:50745595 NOD2 C>T	16	50745595	50745595	C	T	NOD2	c.1773C>T	NM_022162.1	NP_071445.1:p.(Val591=)	NC_000016.9:g.50745595C>T	(Likely) benign	1 lab	1d5b6bbf7f
2:132240292 TUBA3D C>T	2	132240292	132240292	C	T	TUBA3D	c.1224C>T	NM_080386.3	NP_525125.2:p.(Tyr408=)	NC_000002.11:g.132240292C>T	(Likely) benign	1 lab	1d5ebde5a7
11:35313846 SLC1A2 C>G	11	35313846	35313846	C	G	SLC1A2	c.1079G>C	NM_004171.4	NP_004162.2:p.(Gly360Ala)	NC_000011.9:g.35313846C>G	VUS	1 lab	e500271e4e
2:152394459 NEB AACTGGCTCATGTAGTTCTCCTTGTATTT>A	2	152394459	152394487	AACTGGCTCATGTAGTTCTCCTTGTATTT	A	NEB	c.21001_21028del	NM_001271208.2	NP_001258137.2:p.(Lys7001TrpfsTer26)	NC_000002.11:g.152394460_152394487del	(Likely) pathogenic	1 lab	e5029b68b0
7:107605102 LAMB1 G>A	7	107605102	107605102	G	A	LAMB1	c.1593C>T	NM_002291.2	NP_002282.2:p.(Cys531=)	NC_000007.13:g.107605102G>A	(Likely) benign	1 lab	1d5fb9bf65
19:10463236 TYK2 A>AG	19	10463236	10463242	A	AG	TYK2	c.3201-10dup	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10463242dup	(Likely) benign	1 lab	1d61a4fa26
4:996273 IDUA G>A	4	996273	996273	G	A	IDUA	c.793G>A	NM_001363576.1	NP_001350505.1:p.(Asp265Asn)	NC_000004.11:g.996273G>A	VUS	1 lab	1d62d72fe1
6:31935074 SKIC2 G>A	6	31935074	31935074	G	A	SKIC2	c.2503G>A	NM_006929.4	NP_008860.4:p.(Gly835Arg)	NC_000006.11:g.31935074G>A	VUS	1 lab	1d630be11f
X:70326238 CXorf65 C>T	X	70326238	70326238	C	T	CXorf65	c.64G>A	NM_001025265.2	NP_001020436.1:p.(Val22Ile)	NC_000023.10:g.70326238C>T	(Likely) benign	1 lab	1d6347ada4
4:13481126 RAB28 G>A	4	13481126	13481126	G	A	RAB28	c.100C>T	NM_004249.3	NP_004240.2:p.(Gln34Ter)	NC_000004.11:g.13481126G>A	(Likely) pathogenic	1 lab	1d63d77002
1:155874262 RIT1 A>G	1	155874262	155874262	A	G	RIT1	c.269T>C	NM_006912.6	NP_008843.1:p.(Met90Thr)	NC_000001.10:g.155874262A>G	(Likely) pathogenic	1 lab	1d64d93ce6
18:48255670 MAPK4 A>G	18	48255670	48255670	A	G	MAPK4	c.1210A>G	NM_002747.4	NP_002738.2:p.(Ser404Gly)	NC_000018.9:g.48255670A>G	VUS	1 lab	1d66afced3
17:36622848 ARHGAP23 G>T	17	36622848	36622848	G	T	ARHGAP23	c.924G>T	NM_001199417.2	NP_001186346.1:p.(Met308Ile)	NC_000017.10:g.36622848G>T	(Likely) benign	1 lab	1d675c2d3a
1:161487927 FCGR2A A>G	1	161487927	161487927	A	G	FCGR2A	c.943A>G	NM_001136219.1	NP_001129691.1:p.(Ser315Gly)	NC_000001.10:g.161487927A>G	VUS	1 lab	1d67f87eb3
7:107340529 SLC26A4 T>C	7	107340529	107340529	T	C	SLC26A4	c.1616T>C	NM_000441.1	NP_000432.1:p.(Ile539Thr)	NC_000007.13:g.107340529T>C	VUS	1 lab	1d684b06fa
22:21083644 PI4KA C>T	22	21083644	21083644	C	T	PI4KA	c.4639G>A	NM_058004.3	NP_477352.3:p.(Ala1547Thr)	NC_000022.10:g.21083644C>T	VUS	1 lab	1d6a2b6a2b
1:237893673 RYR2 G>T	1	237893673	237893673	G	T	RYR2	c.10935+17G>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237893673G>T	(Likely) benign	1 lab	1d6a4324ab
18:2929099 LPIN2 A>G	18	2929099	2929099	A	G	LPIN2	c.1514T>C	NM_014646.2	NP_055461.1:p.(Ile505Thr)	NC_000018.9:g.2929099A>G	VUS	1 lab	1d6c63eac8
10:73499432 CDH23 C>T	10	73499432	73499432	C	T	CDH23	c.4391C>T	NM_022124.5	NP_071407.4:p.(Ala1464Val)	NC_000010.10:g.73499432C>T	VUS	1 lab	1d6d80d105
X:77266754 ATP7A G>C	X	77266754	77266754	G	C	ATP7A	c.1946+5G>C	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77266754G>C	(Likely) pathogenic	1 lab	1d6eb5fab3
1:109472526 GPSM2 G>GT	1	109472526	109472529	G	GT	GPSM2	c.2022dup	NM_013296.5	NP_037428.3:p.(Lys675Ter)	NC_000001.10:g.109472529dup	(Likely) pathogenic	1 lab	1d6f152380
22:38333167 MICALL1 G>A	22	38333167	38333167	G	A	MICALL1	c.2389G>A	NM_033386.3	NP_203744.1:p.(Ala797Thr)	NC_000022.10:g.38333167G>A	VUS	1 lab	1d6fdb91f1
2:73678933 ALMS1 CA>C	2	73678933	73678934	CA	C	ALMS1	c.5280del	NM_001378454.1	NP_001365383.1:p.(His1761IlefsTer18)	NC_000002.11:g.73678934del	(Likely) pathogenic	1 lab	1d705df9de
19:30936381 ZNF536 C>A	19	30936381	30936381	C	A	ZNF536	c.1912C>A	NM_014717.3	NP_055532.1:p.(Arg638=)	NC_000019.9:g.30936381C>A	(Likely) benign	1 lab	1d71f08c7c
6:161162404 PLG G>A	6	161162404	161162404	G	A	PLG	c.2080G>A	NM_000301.3	NP_000292.1:p.(Ala694Thr)	NC_000006.11:g.161162404G>A	VUS	1 lab	1d7225f3fd
14:105411338 AHNAK2 C>T	14	105411338	105411338	C	T	AHNAK2	c.10450G>A	NM_138420.3	NP_612429.2:p.(Gly3484Arg)	NC_000014.8:g.105411338C>T	(Likely) benign	1 lab	1d72834eac
11:117261857 CEP164 C>T	11	117261857	117261857	C	T	CEP164	c.2209C>T	NM_014956.4	NP_055771.4:p.(Gln737Ter)	NC_000011.9:g.117261857C>T	(Likely) pathogenic	1 lab	1d75f2e341
7:33296840 BBS9 T>C	7	33296840	33296840	T	C	BBS9	c.443-8T>C	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33296840T>C	(Likely) benign	1 lab	1d7624a2af
1:94495096 ABCA4 C>T	1	94495096	94495096	C	T	ABCA4	c.4444G>A	NM_000350.2	NP_000341.2:p.(Val1482Ile)	NC_000001.10:g.94495096C>T	(Likely) benign	1 lab	1d792effba
15:40914508 KNL1 A>G	15	40914508	40914508	A	G	KNL1	c.2124A>G	NM_170589.4	NP_733468.3:p.(Gln708=)	NC_000015.9:g.40914508A>G	VUS	1 lab	1d7933caa1
20:49576685 MOCS3 C>A	20	49576685	49576685	C	A	MOCS3	c.1306C>A	NM_014484.4	NP_055299.1:p.(Pro436Thr)	NC_000020.10:g.49576685C>A	(Likely) benign	1 lab	1d79cf85aa
22:50515270 MLC1 T>C	22	50515270	50515270	T	C	MLC1	c.597A>G	NM_015166.4	NP_055981.1:p.(Ser199=)	NC_000022.10:g.50515270T>C	(Likely) benign	1 lab	e507e4464b
X:153171054 AVPR2 C>T	X	153171054	153171054	C	T	AVPR2	c.94C>T	NM_001146151.2	NP_001139623.1:p.(Arg32Trp)	NC_000023.10:g.153171054C>T	VUS	1 lab	1d7b06f6ee
5:37061067 NIPBL A>T	5	37061067	37061067	A	T	NIPBL	c.7807A>T	NM_015384.4	NP_056199.2:p.(Asn2603Tyr)	NC_000005.9:g.37061067A>T	VUS	1 lab	1d7b13eb9f
X:47775211 ZNF81 G>A	X	47775211	47775211	G	A	ZNF81	c.1166G>A	NM_007137.3	NP_009068.2:p.(Ser389Asn)	NC_000023.10:g.47775211G>A	(Likely) benign	1 lab	1d7c9e3d22
22:37332672 CSF2RB A>G	22	37332672	37332672	A	G	CSF2RB	c.1546A>G	NM_000395.3	NP_000386.1:p.(Ser516Gly)	NC_000022.10:g.37332672A>G	VUS	1 lab	e509eb51e5
1:40775641 COL9A2 G>A	1	40775641	40775641	G	A	COL9A2	c.815C>T	NM_001852.4	NP_001843.1:p.(Pro272Leu)	NC_000001.10:g.40775641G>A	VUS	1 lab	1d7ea9614d
16:84193318 DNAAF1 G>C	16	84193318	84193318	G	C	DNAAF1	c.780G>C	NM_178452.5	NP_848547.4:p.(Gln260His)	NC_000016.9:g.84193318G>C	(Likely) benign	1 lab	1d7ef3af4c
4:126242202 FAT4 G>A	4	126242202	126242202	G	A	FAT4	c.4636G>A	NM_001291303.1	NP_001278232.1:p.(Val1546Ile)	NC_000004.11:g.126242202G>A	VUS	1 lab	1d81ffb867
1:43909453 SZT2 C>A	1	43909453	43909453	C	A	SZT2	c.8640C>A	NM_015284.3	NP_056099.3:p.(Pro2880=)	NC_000001.10:g.43909453C>A	(Likely) benign	1 lab	1d82b5cf23
1:207510171 CD55 G>T	1	207510171	207510171	G	T	CD55	c.979+8G>T	NM_001114752.2	NP_001108224.1:p.?	NC_000001.10:g.207510171G>T	(Likely) benign	1 lab	1d8382de24
20:62630472 PRPF6 G>A	20	62630472	62630472	G	A	PRPF6	c.846G>A	NM_012469.3	NP_036601.2:p.(Pro282=)	NC_000020.10:g.62630472G>A	(Likely) benign	1 lab	1d84debdf9
17:6387553 PITPNM3 T>C	17	6387553	6387553	T	C	PITPNM3	c.334A>G	NM_031220.3	NP_112497.2:p.(Ile112Val)	NC_000017.10:g.6387553T>C	VUS	1 lab	1d86d9ed35
X:129203319 ELF4 G>A	X	129203319	129203319	G	A	ELF4	c.1143C>T	NM_001421.3	NP_001412.1:p.(Leu381=)	NC_000023.10:g.129203319G>A	(Likely) benign	1 lab	1d88b65fc4
19:55668722 TNNI3 C>CCTGT	19	55668722	55668728	C	CCTGT	TNNI3	c.12-50_12-47dup	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668725_55668728dup	(Likely) benign	1 lab	1d8a4b8b1b
1:39818743 MACF1 C>T	1	39818743	39818743	C	T	MACF1	c.5078C>T	NM_012090.5	NP_036222.3:p.(Thr1693Ile)	NC_000001.10:g.39818743C>T	(Likely) benign	1 lab	e50afaf3db
Y:14928208 USP9Y A>G	Y	14928208	14928208	A	G	USP9Y	c.4759A>G	NM_004654.3	NP_004645.2:p.(Ile1587Val)	NC_000024.9:g.14928208A>G	(Likely) benign	1 lab	1d9865185f
7:128097507 HILPDA G>A	7	128097507	128097507	G	A	HILPDA	c.185G>A	NM_013332.4	NP_037464.1:p.(Ser62Asn)	NC_000007.13:g.128097507G>A	(Likely) benign	1 lab	1d8aa34e64
6:85446849 TBX18 C>T	6	85446849	85446849	C	T	TBX18	c.1378G>A	NM_001080508.3	NP_001073977.1:p.(Val460Met)	NC_000006.11:g.85446849C>T	VUS	1 lab	e50d47200b
4:55602960 KIT C>T	4	55602960	55602960	C	T	KIT	c.2670C>T	NM_000222.2	NP_000213.1:p.(Leu890=)	NC_000004.11:g.55602960C>T	(Likely) benign	1 lab	1d8c41c7f4
2:209190434 PIKFYVE C>T	2	209190434	209190434	C	T	PIKFYVE	c.2899C>T	NM_015040.3	NP_055855.2:p.(Leu967Phe)	NC_000002.11:g.209190434C>T	(Likely) benign	1 lab	1d8e732a7d
9:135797205 TSC1 C>T	9	135797205	135797205	C	T	TSC1	c.663+1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135797205C>T	(Likely) pathogenic	1 lab	1d90b4e02b
6:32800563 TAP2 C>T	6	32800563	32800563	C	T	TAP2	c.984G>A	NM_001290043.1	NP_001276972.1:p.(Ala328=)	NC_000006.11:g.32800563C>T	(Likely) benign	1 lab	1d9131eee2
3:3215730 CRBN T>G	3	3215730	3215730	T	G	CRBN	c.377+13A>C	NM_016302.4	NP_057386.2:p.?	NC_000003.11:g.3215730T>G	(Likely) benign	1 lab	e50f2e2087
22:30051652 NF2 C>T	22	30051652	30051652	C	T	NF2	c.586C>T	NM_000268.3	NP_000259.1:p.(Arg196Ter)	NC_000022.10:g.30051652C>T	(Likely) pathogenic	1 lab	1d91f5256c
12:81064237 MISSING G>T	12	81064237	81064237	G	T	MISSING				NC_000012.11:g.81064237G>T	VUS	1 lab	1d94210270
19:34003574 PEPD G>A	19	34003574	34003574	G	A	PEPD	c.126C>T	NM_000285.3	NP_000276.2:p.(Ala42=)	NC_000019.9:g.34003574G>A	(Likely) benign	1 lab	1d96121ec8
6:152806069 SYNE1 C>T	6	152806069	152806069	C	T	SYNE1	c.1086G>A	NM_182961.3	NP_892006.3:p.(Arg362=)	NC_000006.11:g.152806069C>T	(Likely) benign	1 lab	1d9774f6f7
1:65871724 DNAJC6 A>C	1	65871724	65871724	A	C	DNAJC6	c.2399A>C	NM_001256864.2	NP_001243793.1:p.(His800Pro)	NC_000001.10:g.65871724A>C	VUS	1 lab	1d992ad6be
19:2117312 AP3D1 C>T	19	2117312	2117312	C	T	AP3D1	c.1768G>A	NM_001261826.3	NP_001248755.1:p.(Val590Met)	NC_000019.9:g.2117312C>T	VUS	1 lab	1d999c5e86
16:78466508 WWOX C>T	16	78466508	78466508	C	T	WWOX	c.915C>T	NM_016373.3	NP_057457.1:p.(Asn305=)	NC_000016.9:g.78466508C>T	(Likely) benign	1 lab	1d99bab4c4
4:128814501 PLK4 C>G	4	128814501	128814501	C	G	PLK4	c.2250C>G	NM_014264.4	NP_055079.3:p.(Tyr750Ter)	NC_000004.11:g.128814501C>G	VUS	1 lab	1da20c2eb7
12:53454848 TNS2 C>G	12	53454848	53454848	C	G	TNS2	c.3188C>G	NM_015319.2	NP_056134.2:p.(Pro1063Arg)	NC_000012.11:g.53454848C>G	VUS	1 lab	1da24bab5e
14:64921435 MTHFD1 C>T	14	64921435	64921435	C	T	MTHFD1	c.2566-6C>T	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64921435C>T	(Likely) benign	1 lab	1da356681f
4:69416555 UGT2B17 T>C	4	69416555	69416555	T	C	UGT2B17	c.1153A>G	NM_001077.3	NP_001068.1:p.(Ile385Val)	NC_000004.11:g.69416555T>C	(Likely) benign	1 lab	1da50f5de1
16:2104302 TSC2 GC>G	16	2104302	2104303	GC	G	TSC2	c.343del	NM_000548.5	NP_000539.2:p.(Arg115ValfsTer67)	NC_000016.9:g.2104303del	(Likely) pathogenic	1 lab	1da574ccd5
1:24486109 IFNLR1 G>A	1	24486109	24486109	G	A	IFNLR1	c.525C>T	NM_170743.4	NP_734464.1:p.(Val175=)	NC_000001.10:g.24486109G>A	(Likely) benign	1 lab	1da941234c
9:133569277 EXOSC2 C>T	9	133569277	133569277	C	T	EXOSC2	c.99C>T	NM_014285.7	NP_055100.2:p.(Ile33=)	NC_000009.11:g.133569277C>T	(Likely) benign	1 lab	1da97bad43
20:3212022 SLC4A11 G>A	20	3212022	3212022	G	A	SLC4A11	c.1031C>T	NM_001174090.1	NP_001167561.1:p.(Thr344Met)	NC_000020.10:g.3212022G>A	VUS	1 lab	1dab3125da
11:26656556 ANO3 A>G	11	26656556	26656556	A	G	ANO3	c.2169-4A>G	NM_001313726.1	NP_001300655.1:p.?	NC_000011.9:g.26656556A>G	VUS	1 lab	1dabbc1ec2
10:73553005 CDH23 G>A	10	73553005	73553005	G	A	CDH23	c.6320G>A	NM_022124.5	NP_071407.4:p.(Arg2107Gln)	NC_000010.10:g.73553005G>A	VUS	1 lab	1dae24c126
2:179465847 TTN G>C	2	179465847	179465847	G	C	TTN	c.55784C>G	NM_001267550.1	NP_001254479.1:p.(Thr18595Arg)	NC_000002.11:g.179465847G>C	VUS	1 lab	1dae8560b0
X:100653394 GLA C>CTG	X	100653394	100653396	C	CTG	GLA	c.961_962dup	NM_000169.2	NP_000160.1:p.(Gln321HisfsTer28)	NC_000023.10:g.100653395_100653396dup	(Likely) pathogenic	1 lab	1daf20a291
17:73832747 UNC13D G>A	17	73832747	73832747	G	A	UNC13D	c.1204C>T	NM_199242.2	NP_954712.1:p.(Leu402=)	NC_000017.10:g.73832747G>A	(Likely) benign	1 lab	1dafa73ed0
8:145024478 PLEC G>A	8	145024478	145024478	G	A	PLEC	c.397C>T	NM_201380.3	NP_958782.1:p.(Pro133Ser)	NC_000008.10:g.145024478G>A	(Likely) benign	1 lab	1db0a8286d
1:186275540 PRG4 A>T	1	186275540	186275540	A	T	PRG4	c.689A>T	NM_005807.4	NP_005798.3:p.(Asp230Val)	NC_000001.10:g.186275540A>T	VUS	1 lab	1db0df791b
14:64494401 SYNE2 T>A	14	64494401	64494401	T	A	SYNE2	c.6604T>A	NM_182914.2	NP_878918.2:p.(Leu2202Ile)	NC_000014.8:g.64494401T>A	(Likely) benign	1 lab	1db205b9e7
17:29576033 NF1 C>T	17	29576033	29576033	C	T	NF1	c.4006C>T	NM_000267.3	NP_000258.1:p.(Gln1336Ter)	NC_000017.10:g.29576033C>T	(Likely) pathogenic	1 lab	1db2e3473b
19:46270406 SIX5 C>T	19	46270406	46270406	C	T	SIX5	c.811G>A	NM_175875.4	NP_787071.2:p.(Asp271Asn)	NC_000019.9:g.46270406C>T	(Likely) benign	1 lab	1db38f4abb
8:61765255 CHD7 G>A	8	61765255	61765255	G	A	CHD7				NC_000008.10:g.61765255G>A	(Likely) benign	1 lab	1dbb7f8e13
1:40770489 COL9A2 G>A	1	40770489	40770489	G	A	COL9A2	c.1138C>T	NM_001852.4	NP_001843.1:p.(Pro380Ser)	NC_000001.10:g.40770489G>A	VUS	1 lab	1db3e22b77
17:29665793 NF1 AC>A	17	29665793	29665794	AC	A	NF1	c.6892del	NM_001042492.3	NP_001035957.1:p.(Leu2298Ter)	NC_000017.10:g.29665794del	(Likely) pathogenic	1 lab	1db5241312
17:17700053 RAI1 A>G	17	17700053	17700053	A	G	RAI1	c.3791A>G	NM_030665.3	NP_109590.3:p.(Glu1264Gly)	NC_000017.10:g.17700053A>G	(Likely) benign	1 lab	1db5bf6773
6:152847259 SYNE1 C>T	6	152847259	152847259	C	T	SYNE1	c.181G>A	NM_182961.3	NP_892006.3:p.(Val61Ile)	NC_000006.11:g.152847259C>T	(Likely) benign	1 lab	1db63f5dc1
1:114443905 AP4B1 T>C	1	114443905	114443905	T	C	AP4B1	c.570A>G	NM_006594.4	NP_006585.2:p.(Glu190=)	NC_000001.10:g.114443905T>C	(Likely) benign	1 lab	1db705bc63
9:137693844 COL5A1 C>T	9	137693844	137693844	C	T	COL5A1	c.2997C>T	NM_000093.4	NP_000084.3:p.(Val999=)	NC_000009.11:g.137693844C>T	(Likely) benign	1 lab	1db8577adb
X:102968544 GLRA4 C>T	X	102968544	102968544	C	T	GLRA4	c.987G>A	NM_001024452.2	NP_001019623.2:p.(Val329=)	NC_000023.10:g.102968544C>T	(Likely) benign	1 lab	1db8af270a
1:65849954 DNAJC6 A>G	1	65849954	65849954	A	G	DNAJC6	c.745A>G	NM_001256864.2	NP_001243793.1:p.(Ile249Val)	NC_000001.10:g.65849954A>G	(Likely) benign	1 lab	1db9781673
1:152277248 FLG C>T	1	152277248	152277248	C	T	FLG	c.10114G>A	NM_002016.1	NP_002007.1:p.(Ala3372Thr)	NC_000001.10:g.152277248C>T	VUS	1 lab	1dba9c5a99
X:301554 PPP2R3B G>A	X	301554	301554	G	A	PPP2R3B	c.1297C>T	NM_013239.4	NP_037371.2:p.(Pro433Ser)	NC_000023.10:g.301554G>A	(Likely) benign	1 lab	1dbe8beb51
X:47432385 SYN1 G>A	X	47432385	47432385	G	A	SYN1	c.1996C>T	NM_006950.3	NP_008881.2:p.(Leu666=)	NC_000023.10:g.47432385G>A	(Likely) benign	1 lab	e523bbcfa5
1:47398493 CYP4A11 C>T	1	47398493	47398493	C	T	CYP4A11	c.1304G>A	NM_000778.3	NP_000769.2:p.(Arg435His)	NC_000001.10:g.47398493C>T	VUS	1 lab	1dbf710e73
5:127800480 FBN2 G>A	5	127800480	127800480	G	A	FBN2	c.763C>T	NM_001999.4	NP_001990.2:p.(Pro255Ser)	NC_000005.9:g.127800480G>A	VUS	1 lab	e5246f8977
Y:15560928 UTY C>T	Y	15560928	15560928	C	T	UTY	c.344G>A	NM_001258249.1	NP_001245178.1:p.(Arg115Lys)	NC_000024.9:g.15560928C>T	(Likely) benign	1 lab	1dc2df2327
6:157454294 ARID1B A>AG	6	157454294	157454295	A	AG	ARID1B	c.2504_2505insG	NM_020732.3	NP_065783.3:p.(Asn835LysfsTer18)	NC_000006.11:g.157454294_157454295insG	(Likely) pathogenic	1 lab	1dc5cc9950
1:103379183 COL11A1 A>G	1	103379183	103379183	A	G	COL11A1	c.4068+10T>C	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103379183A>G	(Likely) benign	1 lab	1dc73d7d3a
2:39249715 SOS1 G>A	2	39249715	39249715	G	A	SOS1	c.1854C>T	NM_005633.3	NP_005624.2:p.(Tyr618=)	NC_000002.11:g.39249715G>A	(Likely) benign	1 lab	1dc7d1f333
10:5808480 GDI2 C>CT	10	5808480	5808481	C	CT	GDI2	c.1112dup	NM_001494.4	NP_001485.2:p.(Leu372AlafsTer6)	NC_000010.10:g.5808481dup	VUS	1 lab	1dc8247f31
17:36491033 GPR179 C>T	17	36491033	36491033	C	T	GPR179	c.1528G>A	NM_001004334.3	NP_001004334.3:p.(Val510Met)	NC_000017.10:g.36491033C>T	VUS	1 lab	1dc826849b
5:76717738 PDE8B C>T	5	76717738	76717738	C	T	PDE8B	c.2343C>T	NM_003719.3	NP_003710.1:p.(Asp781=)	NC_000005.9:g.76717738C>T	(Likely) benign	1 lab	1dc839bbf1
X:39922172 BCOR A>C	X	39922172	39922172	A	C	BCOR	c.4000T>G	NM_001123385.1	NP_001116857.1:p.(Cys1334Gly)	NC_000023.10:g.39922172A>C	VUS	1 lab	1dc8f81cb3
19:8670028 ADAMTS10 C>T	19	8670028	8670028	C	T	ADAMTS10	c.304G>A	NM_030957.3	NP_112219.3:p.(Val102Ile)	NC_000019.9:g.8670028C>T	VUS	1 lab	1dca3a037b
10:86012708 RGR C>A	10	86012708	86012708	C	A	RGR	c.466C>A	NM_002921.3	NP_002912.2:p.(His156Asn)	NC_000010.10:g.86012708C>A	(Likely) benign	1 lab	1dcb38be00
19:501791 MADCAM1 C>T	19	501791	501791	C	T	MADCAM1	c.790C>T	NM_130760.3	NP_570116.2:p.(Pro264Ser)	NC_000019.9:g.501791C>T	(Likely) benign	1 lab	1dce9bed19
X:140786523 SPANXD C>T	X	140786523	140786523	C	T	SPANXD	c.40G>A	NM_032417.3	NP_115793.1:p.(Val14Ile)	NC_000023.10:g.140786523C>T	(Likely) benign	1 lab	1dcf2401b9
6:56480741 DST C>A	6	56480741	56480741	C	A	DST	c.7524G>T	NM_001723.5	NP_001714.1:p.(Leu2508=)	NC_000006.11:g.56480741C>A	(Likely) benign	1 lab	1dd1d4adda
2:208988829 CRYGD T>C	2	208988829	208988829	T	C	CRYGD	c.252+7A>G	NM_006891.3	NP_008822.2:p.?	NC_000002.11:g.208988829T>C	(Likely) benign	1 lab	1dd2b3ce7b
9:108380352 FKTN G>A	9	108380352	108380352	G	A	FKTN	c.1023G>A	NM_006731.2	NP_006722.2:p.(Pro341=)	NC_000009.11:g.108380352G>A	(Likely) benign	1 lab	1dd30dd951
4:47945286 CNGA1 C>A	4	47945286	47945286	C	A	CNGA1	c.568G>T	NM_001142564.1	NP_001136036.1:p.(Glu190Ter)	NC_000004.11:g.47945286C>A	(Likely) pathogenic	1 lab	1dd5016af8
X:9862997 SHROOM2 C>T	X	9862997	9862997	C	T	SHROOM2	c.1049C>T	NM_001649.3	NP_001640.1:p.(Thr350Met)	NC_000023.10:g.9862997C>T	VUS	1 lab	1de4f0d0e3
3:37092173 MLH1 GTTC>G	3	37092173	37092181	GTTC	G	MLH1	c.*35_*37del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37092179_37092181del	(Likely) benign	1 lab	1dd5f36121
X:73740922 SLC16A2 G>T	X	73740922	73740922	G	T	SLC16A2	c.528G>T	NM_006517.4	NP_006508.2:p.(Ala176=)	NC_000023.10:g.73740922G>T	(Likely) benign	1 lab	1dd63899eb
17:73975075 ACOX1 G>A	17	73975075	73975075	G	A	ACOX1	c.80C>T	NM_004035.6	NP_004026.2:p.(Pro27Leu)	NC_000017.10:g.73975075G>A	(Likely) benign	1 lab	1dd7d88533
5:254509 SDHA T>C	5	254509	254509	T	C	SDHA	c.1796T>C	NM_004168.3	NP_004159.2:p.(Val599Ala)	NC_000005.9:g.254509T>C	VUS	1 lab	1dd8413801
4:126371447 FAT4 C>T	4	126371447	126371447	C	T	FAT4	c.9282C>T	NM_001291303.1	NP_001278232.1:p.(Ser3094=)	NC_000004.11:g.126371447C>T	(Likely) benign	1 lab	1dd8c86e1e
2:85598245 ELMOD3 G>A	2	85598245	85598245	G	A	ELMOD3	c.397G>A	NM_001329791.1	NP_001316720.1:p.(Ala133Thr)	NC_000002.11:g.85598245G>A	VUS	1 lab	1dd8d4f22b
5:70806896 BDP1 C>T	5	70806896	70806896	C	T	BDP1	c.3977C>T	NM_018429.2	NP_060899.2:p.(Thr1326Ile)	NC_000005.9:g.70806896C>T	(Likely) benign	1 lab	1ddaff410b
X:39923694 BCOR C>G	X	39923694	39923694	C	G	BCOR	c.3397G>C	NM_001123385.1	NP_001116857.1:p.(Asp1133His)	NC_000023.10:g.39923694C>G	VUS	1 lab	1ddb514b12
10:21157670 NEBL T>A	10	21157670	21157670	T	A	NEBL	c.607A>T	NM_006393.2	NP_006384.1:p.(Ile203Leu)	NC_000010.10:g.21157670T>A	(Likely) benign	1 lab	1ddd883668
11:66293608 BBS1 CCTTTG>C	11	66293608	66293618	CCTTTG	C	BBS1	c.1131_1135del	NM_024649.5	NP_078925.3:p.(Cys377TrpfsTer36)	NC_000011.9:g.66293614_66293618del	(Likely) pathogenic	1 lab	1de1d67f85
3:25636057 RARB A>G	3	25636057	25636057	A	G	RARB	c.1059A>G	NM_001290216.2	NP_001277145.1:p.(Glu353=)	NC_000003.11:g.25636057A>G	(Likely) benign	1 lab	1de253b7fe
12:13764650 GRIN2B C>T	12	13764650	13764650	C	T	GRIN2B	c.1780+9G>A	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13764650C>T	(Likely) benign	1 lab	1de3b29d6d
X:107978325 IRS4 G>A	X	107978325	107978325	G	A	IRS4	c.1250C>T	NM_003604.2	NP_003595.1:p.(Pro417Leu)	NC_000023.10:g.107978325G>A	(Likely) benign	1 lab	1de5129bfe
18:28587049 DSC3 T>C	18	28587049	28587049	T	C	DSC3	c.1712A>G	NM_024423.4	NP_077741.2:p.(Asn571Ser)	NC_000018.9:g.28587049T>C	VUS	1 lab	e525480a34
9:2643449 VLDLR C>T	9	2643449	2643449	C	T	VLDLR	c.738C>T	NM_003383.4	NP_003374.3:p.(Cys246=)	NC_000009.11:g.2643449C>T	(Likely) benign	1 lab	1de6e968ec
16:24185831 PRKCB A>T	16	24185831	24185831	A	T	PRKCB	c.1332-8A>T	NM_002738.6	NP_002729.2:p.?	NC_000016.9:g.24185831A>T	(Likely) benign	1 lab	1de9062b4b
5:127640639 FBN2 C>T	5	127640639	127640639	C	T	FBN2	c.5800+10G>A	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127640639C>T	(Likely) benign	1 lab	1de94b2f5b
X:83128076 CYLC1 T>C	X	83128076	83128076	T	C	CYLC1	c.360T>C	NM_021118.2	NP_066941.1:p.(Asp120=)	NC_000023.10:g.83128076T>C	(Likely) benign	1 lab	1dec6ea25b
4:88536448 DSPP C>T	4	88536448	88536448	C	T	DSPP	c.2634C>T	NM_014208.3	NP_055023.2:p.(Asp878=)	NC_000004.11:g.88536448C>T	(Likely) benign	1 lab	1ded4a632d
6:64430546 EYS A>C	6	64430546	64430546	A	C	EYS	c.9444T>G	NM_001292009.1	NP_001278938.1:p.(Ile3148Met)	NC_000006.11:g.64430546A>C	VUS	1 lab	1dedbf3bdb
11:65838263 PACS1 C>A	11	65838263	65838263	C	A	PACS1	c.306C>A	NM_018026.3	NP_060496.2:p.(Asn102Lys)	NC_000011.9:g.65838263C>A	VUS	1 lab	1def51567f
2:179622538 TTN G>A	2	179622538	179622538	G	A	TTN	c.10409C>T	NM_001267550.1	NP_001254479.1:p.(Pro3470Leu)	NC_000002.11:g.179622538G>A	VUS	1 lab	1df01bb440
12:52757953 KRT85 C>G	12	52757953	52757953	C	G	KRT85	c.691-6G>C	NM_002283.3	NP_002274.1:p.?	NC_000012.11:g.52757953C>G	(Likely) benign	1 lab	1df0262c22
15:74494587 STRA6 T>C	15	74494587	74494587	T	C	STRA6	c.139A>G	NM_001199042.1	NP_001185971.1:p.(Asn47Asp)	NC_000015.9:g.74494587T>C	VUS	1 lab	1df1f73a34
10:112362575 SMC3 A>AT	10	112362575	112362580	A	AT	SMC3	c.3298-3dup	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112362580dup	(Likely) benign	1 lab	1df35bfd8c
11:56757046 OR5AK2 T>A	11	56757046	56757046	T	A	OR5AK2	c.658T>A	NM_001005323.1	NP_001005323.1:p.(Tyr220Asn)	NC_000011.9:g.56757046T>A	(Likely) benign	1 lab	1df44c9fac
10:89692792 PTEN C>T	10	89692792	89692792	C	T	PTEN	c.276C>T	NM_000314.4	NP_000305.3:p.(Asp92=)	NC_000010.10:g.89692792C>T	(Likely) pathogenic	1 lab	1df6eae9e6
17:29486113 NF1 T>C	17	29486113	29486113	T	C	NF1	c.288+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486113T>C	(Likely) pathogenic	1 lab	1df83f8cb1
1:234744320 IRF2BP2 G>A	1	234744320	234744320	G	A	IRF2BP2	c.921C>T	NM_182972.2	NP_892017.2:p.(Asp307=)	NC_000001.10:g.234744320G>A	(Likely) benign	1 lab	1df8fef02b
7:92134058 PEX1 G>A	7	92134058	92134058	G	A	PEX1	c.1435C>T	NM_001282678.1	NP_001269607.1:p.(Arg479Trp)	NC_000007.13:g.92134058G>A	VUS	1 lab	1df9be8900
11:17115817 PIK3C2A T>C	11	17115817	17115817	T	C	PIK3C2A	c.4442A>G	NM_001321378.1	NP_001308307.1:p.(Lys1481Arg)	NC_000011.9:g.17115817T>C	VUS	1 lab	1dfa5cb076
16:81320924 BCO1 A>G	16	81320924	81320924	A	G	BCO1	c.1327A>G	NM_017429.2	NP_059125.2:p.(Lys443Glu)	NC_000016.9:g.81320924A>G	VUS	1 lab	1dfa8b105b
X:119673142 CUL4B G>A	X	119673142	119673142	G	A	CUL4B	c.1776C>T	NM_003588.3	NP_003579.3:p.(Ile592=)	NC_000023.10:g.119673142G>A	(Likely) benign	1 lab	1dfacc5c83
2:98709679 VWA3B C>A	2	98709679	98709679	C	A	VWA3B	c.124C>A	NM_144992.5	NP_659429.4:p.(Leu42Met)	NC_000002.11:g.98709679C>A	(Likely) benign	1 lab	e52d418790
17:76457704 DNAH17 G>A	17	76457704	76457704	G	A	DNAH17	c.9261C>T	NM_173628.3	NP_775899.3:p.(Val3087=)	NC_000017.10:g.76457704G>A	(Likely) benign	1 lab	1dfd6b2fca
8:10465063 RP1L1 G>T	8	10465063	10465063	G	T	RP1L1	c.6545C>A	NM_178857.5	NP_849188.4:p.(Ala2182Asp)	NC_000008.10:g.10465063G>T	(Likely) benign	1 lab	1dfe0d4f71
11:119549154 NECTIN1 C>T	11	119549154	119549154	C	T	NECTIN1	c.401G>A	NM_002855.5	NP_002846.3:p.(Arg134Gln)	NC_000011.9:g.119549154C>T	VUS	1 lab	e53065040e
6:161781246 PRKN A>G	6	161781246	161781246	A	G	PRKN	c.1168-9T>C	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.161781246A>G	(Likely) benign	1 lab	1e01273faa
2:73680121 ALMS1 T>C	2	73680121	73680121	T	C	ALMS1	c.6470T>C	NM_015120.4	NP_055935.4:p.(Leu2157Ser)	NC_000002.11:g.73680121T>C	VUS	1 lab	1e01858644
7:35293232 TBX20 G>T	7	35293232	35293232	G	T	TBX20	c.-1C>A	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35293232G>T	VUS	1 lab	419f0459a7
11:121039389 TECTA A>T	11	121039389	121039389	A	T	TECTA	c.5754A>T	NM_005422.2	NP_005413.2:p.(Val1918=)	NC_000011.9:g.121039389A>T	(Likely) benign	1 lab	1e04c0c261
9:104449018 GRIN3A G>A	9	104449018	104449018	G	A	GRIN3A	c.1164C>T	NM_133445.2	NP_597702.2:p.(Tyr388=)	NC_000009.11:g.104449018G>A	(Likely) benign	1 lab	1e05c21975
16:79628390 MAF C>T	16	79628390	79628390	C	T	MAF	c.1179G>A	NM_005360.4	NP_005351.2:p.(Gln393=)	NC_000016.9:g.79628390C>T	(Likely) benign	1 lab	1e09789f46
X:139866051 CDR1 C>T	X	139866051	139866051	C	T	CDR1	c.481G>A	NM_004065.2	NP_004056.2:p.(Gly161Arg)	NC_000023.10:g.139866051C>T	(Likely) benign	1 lab	1e0bf85ce2
17:41063371 G6PC C>T	17	41063371	41063371	C	T	G6PC				NC_000017.10:g.41063371C>T	(Likely) benign	1 lab	1e0c082f29
16:46962819 GPT2 G>C	16	46962819	46962819	G	C	GPT2	c.1482G>C	NM_133443.3	NP_597700.1:p.(Arg494Ser)	NC_000016.9:g.46962819G>C	VUS	1 lab	1e0d965ffa
16:2122326 TSC2 T>TG	16	2122326	2122327	T	TG	TSC2	c.2183dup	NM_000548.3	NP_000539.2:p.(Cys728TrpfsTer34)	NC_000016.9:g.2122327dup	(Likely) pathogenic	1 lab	1e0df653c4
9:140127327 SLC34A3 G>A	9	140127327	140127327	G	A	SLC34A3	c.396G>A	NM_001177317.1	NP_001170788.1:p.(Val132=)	NC_000009.11:g.140127327G>A	(Likely) benign	1 lab	1e0ff9efec
13:103701773 SLC10A2 G>A	13	103701773	103701773	G	A	SLC10A2	c.785C>T	NM_000452.2	NP_000443.1:p.(Thr262Met)	NC_000013.10:g.103701773G>A	(Likely) pathogenic	1 lab	1e10330173
11:122944416 CLMP G>A	11	122944416	122944416	G	A	CLMP	c.888C>T	NM_024769.3	NP_079045.1:p.(Ser296=)	NC_000011.9:g.122944416G>A	(Likely) benign	1 lab	1e10b62cf7
11:4825572 OR52R1 C>T	11	4825572	4825572	C	T	OR52R1	c.39G>A	NM_001005177.3	NP_001005177.3:p.(Val13=)	NC_000011.9:g.4825572C>T	(Likely) benign	1 lab	1e12745cf3
3:9483388 SETD5 C>T	3	9483388	9483388	C	T	SETD5	c.628C>T	NM_001292043.1	NP_001278972.1:p.(Arg210Ter)	NC_000003.11:g.9483388C>T	VUS	1 lab	1e1330914a
13:39358810 FREM2 C>T	13	39358810	39358810	C	T	FREM2	c.5884C>T	NM_207361.5	NP_997244.4:p.(Arg1962Trp)	NC_000013.10:g.39358810C>T	VUS	1 lab	1e144e50ff
12:22005148 ABCC9 G>A	12	22005148	22005148	G	A	ABCC9	c.2652C>T	NM_020297.2	NP_064693.2:p.(Ala884=)	NC_000012.11:g.22005148G>A	(Likely) benign	1 lab	1e1504378d
3:75788150 ZNF717 A>AG	3	75788150	75788151	A	AG	ZNF717	c.623dup	NM_001128223.3	NP_001121695.1:p.(Gln210SerfsTer3)	NC_000003.11:g.75788151dup	(Likely) benign	1 lab	1e19adc5fe
17:36484031 GPR179 C>T	17	36484031	36484031	C	T	GPR179	c.5421G>A	NM_001004334.3	NP_001004334.3:p.(Gln1807=)	NC_000017.10:g.36484031C>T	(Likely) benign	1 lab	1e1bde0bb0
X:38268006 OTC G>A	X	38268006	38268006	G	A	OTC	c.675G>A	NM_000531.5	NP_000522.3:p.(Pro225=)	NC_000023.10:g.38268006G>A	(Likely) benign	1 lab	1e1d590397
2:74274064 TET3 C>G	2	74274064	74274064	C	G	TET3	c.1020C>G	NM_001287491.2	NP_001274420.1:p.(Ser340=)	NC_000002.11:g.74274064C>G	(Likely) benign	1 lab	1e1d6a8b16
12:100784826 SLC17A8 A>T	12	100784826	100784826	A	T	SLC17A8	c.402A>T	NM_139319.2	NP_647480.1:p.(Gly134=)	NC_000012.11:g.100784826A>T	(Likely) benign	1 lab	1e1d7e08e6
5:138160267 CTNNA1 A>G	5	138160267	138160267	A	G	CTNNA1	c.637A>G	NM_001290307.2	NP_001277236.1:p.(Ile213Val)	NC_000005.9:g.138160267A>G	(Likely) benign	1 lab	1e1ed3566e
1:1146965 TNFRSF4 G>A	1	1146965	1146965	G	A	TNFRSF4	c.804C>T	NM_003327.4	NP_003318.1:p.(Ala268=)	NC_000001.10:g.1146965G>A	(Likely) benign	1 lab	1e209d2fa3
X:130217876 ARHGAP36 G>A	X	130217876	130217876	G	A	ARHGAP36	c.488G>A	NM_144967.4	NP_659404.2:p.(Arg163Gln)	NC_000023.10:g.130217876G>A	(Likely) benign	1 lab	1e259568d1
12:112888219 PTPN11 C>A	12	112888219	112888219	C	A	PTPN11	c.235C>A	NM_002834.3	NP_002825.3:p.(Gln79Lys)	NC_000012.11:g.112888219C>A	(Likely) pathogenic	1 lab	1e26e69a14
9:139409057 NOTCH1 G>A	9	139409057	139409057	G	A	NOTCH1	c.2112C>T	NM_017617.5	NP_060087.3:p.(Cys704=)	NC_000009.11:g.139409057G>A	(Likely) benign	1 lab	1e2709379a
11:68171164 LRP5 G>A	11	68171164	68171164	G	A	LRP5	c.1798G>A	NM_002335.3	NP_002326.2:p.(Val600Ile)	NC_000011.9:g.68171164G>A	(Likely) benign	1 lab	1e2726c1d4
11:71715805 NUMA1 C>T	11	71715805	71715805	C	T	NUMA1	c.5845G>A	NM_001286561.1	NP_001273490.1:p.(Glu1949Lys)	NC_000011.9:g.71715805C>T	VUS	1 lab	1e28d3f0c4
18:59855048 RELCH G>A	18	59855048	59855048	G	A	RELCH	c.310G>A	NM_020854.3	NP_065905.2:p.(Asp104Asn)	NC_000018.9:g.59855048G>A	VUS	1 lab	1e2e1d8c9b
2:38298287 CYP1B1 T>TGGTGGCATGA	2	38298287	38298299	T	TGGTGGCATGA	CYP1B1	c.1200_1209dup	NM_000104.3	NP_000095.2:p.(Thr404SerfsTer30)	NC_000002.11:g.38298290_38298299dup	(Likely) pathogenic	1 lab	1e2e3323ef
16:3642791 SLX4 C>T	16	3642791	3642791	C	T	SLX4	c.2236G>A	NM_032444.2	NP_115820.2:p.(Glu746Lys)	NC_000016.9:g.3642791C>T	VUS	1 lab	1e2e57b40c
12:133324901 ANKLE2 C>T	12	133324901	133324901	C	T	ANKLE2	c.864G>A	NM_015114.2	NP_055929.1:p.(Ser288=)	NC_000012.11:g.133324901C>T	(Likely) benign	1 lab	1e2f73622e
X:129149296 BCORL1 G>A	X	129149296	129149296	G	A	BCORL1	c.2548G>A	NM_001184772.2	NP_001171701.1:p.(Gly850Arg)	NC_000023.10:g.129149296G>A	(Likely) benign	1 lab	1e2fcf0bbc
14:104559047 ASPG C>T	14	104559047	104559047	C	T	ASPG	c.160C>T	NM_001080464.3	NP_001073933.2:p.(Arg54Cys)	NC_000014.8:g.104559047C>T	(Likely) benign	1 lab	1e302acfab
11:45832538 SLC35C1 C>T	11	45832538	45832538	C	T	SLC35C1	c.747C>T	NM_018389.4	NP_060859.4:p.(Leu249=)	NC_000011.9:g.45832538C>T	(Likely) benign	1 lab	1e3a77b423
17:29556072 NF1 TA>T	17	29556072	29556074	TA	T	NF1	c.2441del	NM_001042492.3	NP_001035957.1:p.(Lys814ArgfsTer7)	NC_000017.10:g.29556074del	(Likely) pathogenic	1 lab	1e305bc0e1
14:103802388 EIF5 A>G	14	103802388	103802388	A	G	EIF5	c.88A>G	NM_001969.5	NP_001960.2:p.(Asn30Asp)	NC_000014.8:g.103802388A>G	VUS	1 lab	1e3403eb33
3:38607926 SCN5A A>T	3	38607926	38607926	A	T	SCN5A	c.3814T>A	NM_198056.3	NP_932173.1:p.(Cys1272Ser)	NC_000003.11:g.38607926A>T	VUS	1 lab	e53a55c8fa
1:216420371 USH2A C>T	1	216420371	216420371	C	T	USH2A	c.2365G>A	NM_206933.2	NP_996816.2:p.(Val789Ile)	NC_000001.10:g.216420371C>T	VUS	1 lab	1e353a8251
1:228461624 OBSCN G>A	1	228461624	228461624	G	A	OBSCN	c.6416G>A	NM_001271223.2	NP_001258152.2:p.(Arg2139Gln)	NC_000001.10:g.228461624G>A	VUS	1 lab	1e35a0cee3
22:38109281 TRIOBP C>T	22	38109281	38109281	C	T	TRIOBP	c.319C>T	NM_001039141.2	NP_001034230.1:p.(Arg107Trp)	NC_000022.10:g.38109281C>T	VUS	1 lab	1e36e41272
5:156021993 SGCD C>G	5	156021993	156021993	C	G	SGCD	c.434C>G	NM_000337.6	NP_000328.2:p.(Ser145Cys)	NC_000005.9:g.156021993C>G	VUS	1 lab	e5445f448e
22:36690295 MYH9 C>G	22	36690295	36690295	C	G	MYH9	c.3680G>C	NM_002473.5	NP_002464.1:p.(Gly1227Ala)	NC_000022.10:g.36690295C>G	(Likely) benign	1 lab	1e37e2f2ce
16:89986122 MC1R C>A	16	89986122	89986122	C	A	MC1R	c.456C>A	NM_002386.3	NP_002377.4:p.(Tyr152Ter)	NC_000016.9:g.89986122C>A	(Likely) pathogenic	1 lab	1e38df40ec
17:18051447 MYO15A C>T	17	18051447	18051447	C	T	MYO15A	c.6614C>T	NM_016239.3	NP_057323.3:p.(Thr2205Ile)	NC_000017.10:g.18051447C>T	(Likely) benign	1 lab	1e394d5203
1:154680720 KCNN3 G>A	1	154680720	154680720	G	A	KCNN3	c.1928C>T	NM_002249.6	NP_002240.3:p.(Thr643Ile)	NC_000001.10:g.154680720G>A	VUS	1 lab	e54625e435
X:148571853 IDS G>A	X	148571853	148571853	G	A	IDS	c.998C>T	NM_000202.7	NP_000193.1:p.(Ser333Leu)	NC_000023.10:g.148571853G>A	(Likely) pathogenic	1 lab	1e3a8b8f2b
11:3039927 CARS1 A>T	11	3039927	3039927	A	T	CARS1	c.1448T>A	NM_001014437.2	NP_001014437.1:p.(Leu483Gln)	NC_000011.9:g.3039927A>T	VUS	1 lab	1e3ac1b622
9:130941557 CIZ1 C>T	9	130941557	130941557	C	T	CIZ1	c.1019G>A	NM_001257975.1	NP_001244904.1:p.(Arg340Gln)	NC_000009.11:g.130941557C>T	VUS	1 lab	1e3f3a876b
19:35617534 LGI4 C>G	19	35617534	35617534	C	G	LGI4	c.939G>C	NM_139284.3	NP_644813.1:p.(Arg313=)	NC_000019.9:g.35617534C>G	(Likely) benign	1 lab	1e3f750692
15:25616915 UBE3A A>G	15	25616915	25616915	A	G	UBE3A	c.346T>C	NM_001354543.1	NP_001341472.1:p.(Leu116=)	NC_000015.9:g.25616915A>G	(Likely) benign	1 lab	1e3fcc2260
11:1251244 MUC5B C>T	11	1251244	1251244	C	T	MUC5B	c.1230C>T	NM_002458.2	NP_002449.2:p.(Ser410=)	NC_000011.9:g.1251244C>T	(Likely) benign	1 lab	1e41b0ef07
11:66460547 SPTBN2 C>T	11	66460547	66460547	C	T	SPTBN2	c.4879G>A	NM_006946.4	NP_008877.2:p.(Val1627Met)	NC_000011.9:g.66460547C>T	VUS	1 lab	e5462f2fa2
14:45658082 FANCM TGAA>T	14	45658082	45658092	TGAA	T	FANCM	c.4865_4867del	NM_020937.4	NP_065988.1:p.(Glu1622del)	NC_000014.8:g.45658090_45658092del	VUS	1 lab	1e43409b87
11:78775854 TENM4 C>T	11	78775854	78775854	C	T	TENM4	c.422G>A	NM_001098816.3	NP_001092286.2:p.(Ser141Asn)	NC_000011.9:g.78775854C>T	(Likely) benign	1 lab	e546eb547d
6:161990390 PRKN C>G	6	161990390	161990390	C	G	PRKN	c.930G>C	NM_004562.2	NP_004553.2:p.(Glu310Asp)	NC_000006.11:g.161990390C>G	VUS	1 lab	1e4713677a
6:32805698 TAP2 C>T	6	32805698	32805698	C	T	TAP2	c.313G>A	NM_001290043.1	NP_001276972.1:p.(Gly105Arg)	NC_000006.11:g.32805698C>T	VUS	1 lab	1e47b885f9
10:43609989 RET C>T	10	43609989	43609989	C	T	RET	c.1941C>T	NM_020975.4	NP_066124.1:p.(Ile647=)	NC_000010.10:g.43609989C>T	(Likely) benign	1 lab	1e47d3f1df
7:117199517 CFTR G>A	7	117199517	117199517	G	A	CFTR	c.1393-1G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117199517G>A	(Likely) pathogenic	1 lab	1e48379afb
4:47951883 CNGA1 AG>A	4	47951883	47951884	AG	A	CNGA1	c.253del	NM_001379270.1	NP_001366199.1:p.(Leu85PhefsTer4)	NC_000004.11:g.47951884del	(Likely) pathogenic	1 lab	1e494b773a
14:105413490 AHNAK2 T>G	14	105413490	105413490	T	G	AHNAK2	c.8298A>C	NM_138420.3	NP_612429.2:p.(Glu2766Asp)	NC_000014.8:g.105413490T>G	(Likely) benign	1 lab	1e49ccbc71
X:16170535 GRPR C>T	X	16170535	16170535	C	T	GRPR	c.922C>T	NM_005314.2	NP_005305.1:p.(Arg308Cys)	NC_000023.10:g.16170535C>T	VUS	1 lab	1e4a42e447
12:71977446 LGR5 A>C	12	71977446	71977446	A	C	LGR5	c.1656A>C	NM_003667.4	NP_003658.1:p.(Glu552Asp)	NC_000012.11:g.71977446A>C	(Likely) benign	1 lab	1e4bac6bc8
22:19929263 TXNRD2 C>A	22	19929263	19929263	C	A	TXNRD2	c.64G>T	NM_006440.3	NP_006431.2:p.(Val22Leu)	NC_000022.10:g.19929263C>A	(Likely) benign	1 lab	1e4dd00b23
11:8662112 TRIM66 G>T	11	8662112	8662112	G	T	TRIM66	c.1375C>A	NM_014818.1	NP_055633.1:p.(Pro459Thr)	NC_000011.9:g.8662112G>T	(Likely) benign	1 lab	1e4dd2db7e
2:179605569 TTN A>G	2	179605569	179605569	A	G	TTN	c.12391T>C	NM_001267550.1	NP_001254479.1:p.(Phe4131Leu)	NC_000002.11:g.179605569A>G	VUS	1 lab	1e4fe2a905
19:12541761 ZNF443 G>A	19	12541761	12541761	G	A	ZNF443	c.1225C>T	NM_005815.5	NP_005806.3:p.(Arg409Ter)	NC_000019.9:g.12541761G>A	VUS	1 lab	1e50a00260
7:154659753 DPP6 A>G	7	154659753	154659753	A	G	DPP6	c.1763A>G	NM_130797.4	NP_570629.2:p.(Asp588Gly)	NC_000007.13:g.154659753A>G	(Likely) benign	1 lab	1e5181527e
3:197423888 RUBCN G>C	3	197423888	197423888	G	C	RUBCN	c.1159C>G	NM_001145642.4	NP_001139114.1:p.(Pro387Ala)	NC_000003.11:g.197423888G>C	(Likely) benign	1 lab	1e51fb6189
19:6833717 VAV1 C>T	19	6833717	6833717	C	T	VAV1	c.1709-5C>T	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6833717C>T	(Likely) benign	1 lab	1e525f0ff0
17:29560173 NF1 A>T	17	29560173	29560173	A	T	NF1	c.3650A>T	NM_000267.3	NP_000258.1:p.(Asp1217Val)	NC_000017.10:g.29560173A>T	VUS	1 lab	1e52adcb0e
X:150911117 CNGA2 C>T	X	150911117	150911117	C	T	CNGA2	c.589+3C>T	NM_005140.1	NP_005131.1:p.?	NC_000023.10:g.150911117C>T	(Likely) benign	1 lab	1e539269e4
4:47938902 CNGA1 C>T	4	47938902	47938902	C	T	CNGA1	c.1816G>A	NM_001142564.1	NP_001136036.1:p.(Val606Ile)	NC_000004.11:g.47938902C>T	VUS	1 lab	1e5640e781
14:77755096 POMT2 T>C	14	77755096	77755096	T	C	POMT2	c.1253+9A>G	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77755096T>C	(Likely) benign	1 lab	1e5880d56a
11:88027248 CTSC G>A	11	88027248	88027248	G	A	CTSC	c.1318C>T	NM_001814.4	NP_001805.3:p.(Arg440Trp)	NC_000011.9:g.88027248G>A	VUS	1 lab	1e58892cb9
2:227924182 COL4A4 A>T	2	227924182	227924182	A	T	COL4A4	c.2322T>A	NM_000092.4	NP_000083.3:p.(Gly774=)	NC_000002.11:g.227924182A>T	(Likely) benign	1 lab	1e59463cef
22:42607452 TCF20 G>C	22	42607452	42607452	G	C	TCF20	c.3860C>G	NM_005650.3	NP_005641.1:p.(Ser1287Ter)	NC_000022.10:g.42607452G>C	VUS	1 lab	1e5d167606
2:29296249 PCARE C>A	2	29296249	29296249	C	A	PCARE	c.879G>T	NM_001029883.2	NP_001025054.1:p.(Leu293=)	NC_000002.11:g.29296249C>A	(Likely) benign	1 lab	1e5d693f1d
17:78090804 GAA C>A	17	78090804	78090804	C	A	GAA	c.2227C>A	NM_000152.3	NP_000143.2:p.(Gln743Lys)	NC_000017.10:g.78090804C>A	(Likely) pathogenic	1 lab	1e5d7637f0
19:12921174 RNASEH2A A>G	19	12921174	12921174	A	G	RNASEH2A	c.593A>G	NM_006397.2	NP_006388.2:p.(Lys198Arg)	NC_000019.9:g.12921174A>G	(Likely) benign	1 lab	1e5db62a86
10:64950841 JMJD1C T>G	10	64950841	64950841	T	G	JMJD1C	c.6104A>C	NM_032776.2	NP_116165.1:p.(Gln2035Pro)	NC_000010.10:g.64950841T>G	(Likely) benign	1 lab	1e5ddafe69
16:88493958 ZNF469 C>T	16	88493958	88493958	C	T	ZNF469				NC_000016.9:g.88493958C>T	(Likely) benign	1 lab	1e5f0d2aa8
16:2131670 TSC2 C>T	16	2131670	2131670	C	T	TSC2	c.3685C>T	NM_000548.3	NP_000539.2:p.(Gln1229Ter)	NC_000016.9:g.2131670C>T	(Likely) pathogenic	1 lab	1e5ffe2cdf
1:216497654 USH2A G>A	1	216497654	216497654	G	A	USH2A	c.1184C>T	NM_206933.2	NP_996816.2:p.(Thr395Met)	NC_000001.10:g.216497654G>A	VUS	1 lab	1e616ea05c
2:30143057 ALK G>A	2	30143057	30143057	G	A	ALK				NC_000002.11:g.30143057G>A	(Likely) benign	1 lab	1e61bf0f3a
19:19790435 ZNF101 C>T	19	19790435	19790435	C	T	ZNF101	c.637C>T	NM_033204.4	NP_149981.2:p.(Arg213Ter)	NC_000019.9:g.19790435C>T	VUS	1 lab	1e64d7aa41
5:73181671 ARHGEF28 G>A	5	73181671	73181671	G	A	ARHGEF28	c.3056-4G>A	NM_001080479.2	NP_001073948.2:p.?	NC_000005.9:g.73181671G>A	(Likely) benign	1 lab	1e661fdf8d
X:100513511 DRP2 G>A	X	100513511	100513511	G	A	DRP2	c.2604G>A	NM_001939.2	NP_001930.2:p.(Gln868=)	NC_000023.10:g.100513511G>A	(Likely) benign	1 lab	1e6637f889
22:50667872 TUBGCP6 G>A	22	50667872	50667872	G	A	TUBGCP6	c.1251C>T	NM_020461.3	NP_065194.2:p.(Pro417=)	NC_000022.10:g.50667872G>A	(Likely) benign	1 lab	1e675cac2d
16:89595975 SPG7 AT>A	16	89595975	89595977	AT	A	SPG7	c.851del	NM_003119.4	NP_003110.1:p.(Phe284SerfsTer45)	NC_000016.9:g.89595977del	(Likely) pathogenic	1 lab	1e6a4a46ac
X:53245060 KDM5C T>C	X	53245060	53245060	T	C	KDM5C	c.880A>G	NM_004187.3	NP_004178.2:p.(Ser294Gly)	NC_000023.10:g.53245060T>C	VUS	1 lab	1e6bb8d538
8:126068927 WASHC5 G>A	8	126068927	126068927	G	A	WASHC5	c.2008C>T	NM_014846.3	NP_055661.3:p.(Arg670Ter)	NC_000008.10:g.126068927G>A	(Likely) pathogenic	1 lab	1e6ca2619b
1:22207943 HSPG2 C>G	1	22207943	22207943	C	G	HSPG2	c.1710G>C	NM_001291860.1	NP_001278789.1:p.(Thr570=)	NC_000001.10:g.22207943C>G	(Likely) benign	1 lab	1e6cccd8dc
9:2717946 KCNV2 C>T	9	2717946	2717946	C	T	KCNV2	c.207C>T	NM_133497.3	NP_598004.1:p.(Asp69=)	NC_000009.11:g.2717946C>T	(Likely) benign	1 lab	1e6cd241d6
17:18023727 MYO15A G>A	17	18023727	18023727	G	A	MYO15A	c.1613G>A	NM_016239.3	NP_057323.3:p.(Arg538His)	NC_000017.10:g.18023727G>A	VUS	1 lab	1e6e0a446d
2:179485826 TTN T>A	2	179485826	179485826	T	A	TTN	c.45616+3A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179485826T>A	(Likely) benign	1 lab	e54c4cf795
1:976663 AGRN C>T	1	976663	976663	C	T	AGRN	c.838C>T	NM_001305275.2	NP_001292204.1:p.(Pro280Ser)	NC_000001.10:g.976663C>T	VUS	1 lab	1e6ec7914e
10:91479281 KIF20B A>G	10	91479281	91479281	A	G	KIF20B	c.1540A>G	NM_001284259.1	NP_001271188.1:p.(Asn514Asp)	NC_000010.10:g.91479281A>G	(Likely) benign	1 lab	1e70a11d8b
X:53117099 TSPYL2 G>A	X	53117099	53117099	G	A	TSPYL2	c.2060G>A	NM_022117.3	NP_071400.1:p.(Gly687Glu)	NC_000023.10:g.53117099G>A	(Likely) benign	1 lab	1e70b77aff
9:130444846 STXBP1 G>C	9	130444846	130444846	G	C	STXBP1	c.1702+7G>C	NM_003165.3	NP_003156.1:p.?	NC_000009.11:g.130444846G>C	(Likely) benign	1 lab	1e7118894a
1:215848920 USH2A A>G	1	215848920	215848920	A	G	USH2A	c.12333T>C	NM_206933.2	NP_996816.2:p.(Ser4111=)	NC_000001.10:g.215848920A>G	(Likely) benign	1 lab	1e72d1e4bb
X:68049525 EFNB1 T>C	X	68049525	68049525	T	C	EFNB1	c.-95T>C	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68049525T>C	VUS	1 lab	1e736419ce
2:179396965 TTN T>C	2	179396965	179396965	T	C	TTN	c.104377A>G	NM_001267550.1	NP_001254479.1:p.(Met34793Val)	NC_000002.11:g.179396965T>C	VUS	1 lab	1e743130c5
20:400322 RBCK1 G>A	20	400322	400322	G	A	RBCK1	c.577G>A	NM_006462.5	NP_006453.1:p.(Glu193Lys)	NC_000020.10:g.400322G>A	(Likely) benign	1 lab	1e74f1517b
X:55035701 ALAS2 C>T	X	55035701	55035701	C	T	ALAS2	c.1676G>A	NM_000032.5	NP_000023.2:p.(Arg559His)	NC_000023.10:g.55035701C>T	(Likely) benign	1 lab	1e75672017
17:79479061 ACTG1 G>A	17	79479061	79479061	G	A	ACTG1	c.231C>T	NM_001199954.2	NP_001186883.1:p.(Thr77=)	NC_000017.10:g.79479061G>A	(Likely) benign	1 lab	1e7621bbb8
3:47890503 DHX30 C>T	3	47890503	47890503	C	T	DHX30	c.2863C>T	NM_138615.3	NP_619520.1:p.(Arg955Cys)	NC_000003.11:g.47890503C>T	VUS	1 lab	e5530ba282
17:40766007 TUBG1 G>A	17	40766007	40766007	G	A	TUBG1	c.834G>A	NM_001070.4	NP_001061.2:p.(Thr278=)	NC_000017.10:g.40766007G>A	(Likely) benign	1 lab	1e7784eea2
18:77170842 NFATC1 C>T	18	77170842	77170842	C	T	NFATC1	c.567C>T	NM_001278669.1	NP_001265598.1:p.(Tyr189=)	NC_000018.9:g.77170842C>T	(Likely) benign	1 lab	1e788f0281
8:145108290 OPLAH G>A	8	145108290	145108290	G	A	OPLAH	c.2693C>T	NM_017570.4	NP_060040.1:p.(Thr898Met)	NC_000008.10:g.145108290G>A	VUS	1 lab	1e796e32f5
2:242138778 ANO7 C>T	2	242138778	242138778	C	T	ANO7	c.519C>T	NM_001001891.3	NP_001001891.2:p.(Ser173=)	NC_000002.11:g.242138778C>T	(Likely) benign	1 lab	1e79f84279
8:10466094 RP1L1 C>T	8	10466094	10466094	C	T	RP1L1	c.5514G>A	NM_178857.5	NP_849188.4:p.(Pro1838=)	NC_000008.10:g.10466094C>T	(Likely) benign	1 lab	1e7ad6f608
16:70917997 HYDIN A>C	16	70917997	70917997	A	C	HYDIN	c.9805T>G	NM_001270974.2	NP_001257903.1:p.(Tyr3269Asp)	NC_000016.9:g.70917997A>C	VUS	1 lab	1e7cacfa58
5:89949210 ADGRV1 G>A	5	89949210	89949210	G	A	ADGRV1	c.3819G>A	NM_032119.4	NP_115495.3:p.(Arg1273=)	NC_000005.9:g.89949210G>A	(Likely) benign	1 lab	1e7d19c5d7
3:81586120 GBE1 T>G	3	81586120	81586120	T	G	GBE1	c.1745A>C	NM_000158.3	NP_000149.3:p.(Asn582Thr)	NC_000003.11:g.81586120T>G	VUS	1 lab	1e7e6f54c6
11:6630114 ILK G>C	11	6630114	6630114	G	C	ILK	c.449-1G>C	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6630114G>C	VUS	1 lab	1e7f33b1d4
17:29546081 NF1 T>C	17	29546081	29546081	T	C	NF1	c.1586T>C	NM_000267.3	NP_000258.1:p.(Leu529Pro)	NC_000017.10:g.29546081T>C	VUS	1 lab	1e8220b70a
9:130428501 STXBP1 CT>C	9	130428501	130428502	CT	C	STXBP1	c.721del	NM_001032221.6	NP_001027392.1:p.(Ser241ProfsTer7)	NC_000009.11:g.130428502del	(Likely) pathogenic	1 lab	1e84d754fc
17:27061955 NEK8 G>T	17	27061955	27061955	G	T	NEK8	c.419G>T	NM_178170.3	NP_835464.1:p.(Arg140Leu)	NC_000017.10:g.27061955G>T	VUS	1 lab	1e85d5df10
5:131663082 SLC22A4 T>C	5	131663082	131663082	T	C	SLC22A4	c.937T>C	NM_003059.3	NP_003050.2:p.(Phe313Leu)	NC_000005.9:g.131663082T>C	VUS	1 lab	1e868caf9e
11:18308254 HPS5 T>C	11	18308254	18308254	T	C	HPS5	c.2721A>G	NM_181507.1	NP_852608.1:p.(Ser907=)	NC_000011.9:g.18308254T>C	(Likely) benign	1 lab	1e879b7d75
11:129772305 PRDM10 TC>T	11	129772305	129772307	TC	T	PRDM10	c.3385del	NM_020228.3	NP_064613.2:p.(Asp1129ThrfsTer39)	NC_000011.9:g.129772307del	VUS	1 lab	e554fe3594
5:66445288 MAST4 T>C	5	66445288	66445288	T	C	MAST4	c.3166T>C	NM_001164664.1	NP_001158136.1:p.(Ser1056Pro)	NC_000005.9:g.66445288T>C	VUS	1 lab	1e89527e28
21:46925057 COL18A1 G>A	21	46925057	46925057	G	A	COL18A1	c.2878G>A	NM_001379500.1	NP_001366429.1:p.(Gly960Arg)	NC_000021.8:g.46925057G>A	VUS	1 lab	e555702379
5:112178465 APC C>A	5	112178465	112178465	C	A	APC				NC_000005.9:g.112178465C>A	VUS	1 lab	1e8c33b010
17:29585424 NF1 ATTT>A	17	29585424	29585427	ATTT	A	NF1	c.4237_4239del	NM_001042492.3	NP_001035957.1:p.(Phe1413del)	NC_000017.10:g.29585425_29585427del	(Likely) pathogenic	1 lab	1e8cd0ad8a
16:68712520 CDH3 G>A	16	68712520	68712520	G	A	CDH3	c.507G>A	NM_001317195.1	NP_001304124.1:p.(Leu169=)	NC_000016.9:g.68712520G>A	(Likely) benign	1 lab	1e8d6e2c0b
1:19559115 EMC1 C>T	1	19559115	19559115	C	T	EMC1	c.1782+3G>A	NM_015047.2	NP_055862.1:p.?	NC_000001.10:g.19559115C>T	(Likely) benign	1 lab	1e8dd7bcec
15:57816787 CGNL1 C>A	15	57816787	57816787	C	A	CGNL1	c.2877C>A	NM_001252335.1	NP_001239264.1:p.(Asp959Glu)	NC_000015.9:g.57816787C>A	(Likely) benign	1 lab	1e8f617fd1
16:2138030 TSC2 GACC>G	16	2138030	2138037	GACC	G	TSC2	c.5069-14_5069-12del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138035_2138037del	(Likely) benign	1 lab	1e9006e805
6:56433289 DST C>T	6	56433289	56433289	C	T	DST	c.7626G>A	NM_001144769.2	NP_001138241.1:p.(Lys2542=)	NC_000006.11:g.56433289C>T	(Likely) benign	1 lab	1e9135f298
2:152534237 NEB T>C	2	152534237	152534237	T	C	NEB	c.3616A>G	NM_001271208.1	NP_001258137.1:p.(Ile1206Val)	NC_000002.11:g.152534237T>C	VUS	1 lab	1e91d251ee
12:40878271 MUC19 T>A	12	40878271	40878271	T	A	MUC19	c.11517T>A	NM_173600.2	NP_775871.2:p.(Ser3839=)	NC_000012.11:g.40878271T>A	(Likely) benign	1 lab	1e931d0385
3:58135902 FLNB C>T	3	58135902	58135902	C	T	FLNB	c.6408C>T	NM_001164317.1	NP_001157789.1:p.(Ala2136=)	NC_000003.11:g.58135902C>T	(Likely) benign	1 lab	1e931e3d65
19:36494352 SYNE4 C>T	19	36494352	36494352	C	T	SYNE4	c.1102G>A	NM_001039876.2	NP_001034965.1:p.(Val368Met)	NC_000019.9:g.36494352C>T	VUS	1 lab	1e93da6fe2
21:45219516 RRP1 G>A	21	45219516	45219516	G	A	RRP1	c.877G>A	NM_003683.5	NP_003674.1:p.(Gly293Ser)	NC_000021.8:g.45219516G>A	(Likely) benign	1 lab	1ea344f588
10:99512618 ZFYVE27 C>A	10	99512618	99512618	C	A	ZFYVE27	c.896C>A	NM_001002261.4	NP_001002261.1:p.(Thr299Asn)	NC_000010.10:g.99512618C>A	VUS	1 lab	e5567886c1
10:97445384 TCTN3 G>A	10	97445384	97445384	G	A	TCTN3	c.898C>T	NM_015631.5	NP_056446.4:p.(Pro300Ser)	NC_000010.10:g.97445384G>A	VUS	1 lab	1e94f34ee6
15:62172800 VPS13C C>T	15	62172800	62172800	C	T	VPS13C	c.10002+8G>A	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62172800C>T	(Likely) benign	1 lab	1e95e0a581
1:240975213 RGS7 T>C	1	240975213	240975213	T	C	RGS7	c.1082+5A>G	NM_002924.6	NP_002915.3:p.?	NC_000001.10:g.240975213T>C	(Likely) benign	1 lab	e556e374cd
2:39281924 SOS1 T>C	2	39281924	39281924	T	C	SOS1	c.551A>G	NM_005633.3	NP_005624.2:p.(Asn184Ser)	NC_000002.11:g.39281924T>C	(Likely) benign	1 lab	1e9951e52b
20:61513511 DIDO1 G>A	20	61513511	61513511	G	A	DIDO1	c.3797C>T	NM_033081.2	NP_149072.2:p.(Pro1266Leu)	NC_000020.10:g.61513511G>A	(Likely) benign	1 lab	1e9953812d
13:39266441 FREM2 A>C	13	39266441	39266441	A	C	FREM2	c.4960A>C	NM_207361.5	NP_997244.4:p.(Ser1654Arg)	NC_000013.10:g.39266441A>C	(Likely) benign	1 lab	1e996bf33f
7:108204688 THAP5 T>C	7	108204688	108204688	T	C	THAP5	c.1009A>G	NM_182529.3	NP_872335.2:p.(Asn337Asp)	NC_000007.13:g.108204688T>C	(Likely) benign	1 lab	1e99bdf155
17:29685474 NF1 C>T	17	29685474	29685474	C	T	NF1	c.7908-24C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685474C>T	(Likely) benign	1 lab	1e9a949af0
11:65294543 SCYL1 G>A	11	65294543	65294543	G	A	SCYL1	c.804G>A	NM_020680.3	NP_065731.3:p.(Met268Ile)	NC_000011.9:g.65294543G>A	(Likely) benign	1 lab	1e9aa8c177
17:29654862 NF1 G>C	17	29654862	29654862	G	C	NF1	c.5546+5G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654862G>C	(Likely) pathogenic	1 lab	1e9ad16177
17:37421690 FBXL20 A>ATCTTTCT	17	37421690	37421691	A	ATCTTTCT	FBXL20	c.949_950insAGAAAGA	NM_032875.3	NP_116264.2:p.(Leu317Ter)	NC_000017.10:g.37421690_37421691insTCTTTCT	VUS	1 lab	1e9b68ec98
11:75133750 KLHL35 G>A	11	75133750	75133750	G	A	KLHL35	c.1626C>T	NM_001039548.2	NP_001034637.2:p.(Arg542=)	NC_000011.9:g.75133750G>A	(Likely) benign	1 lab	1e9bfa0544
13:39262185 FREM2 A>G	13	39262185	39262185	A	G	FREM2	c.704A>G	NM_207361.5	NP_997244.4:p.(His235Arg)	NC_000013.10:g.39262185A>G	(Likely) benign	1 lab	1e9c913352
3:4887894 ITPR1 A>T	3	4887894	4887894	A	T	ITPR1	c.8217A>T	NM_001168272.1	NP_001161744.1:p.(Pro2739=)	NC_000003.11:g.4887894A>T	(Likely) benign	1 lab	1e9cde05f9
12:116421212 MED13L AG>A	12	116421212	116421213	AG	A	MED13L	c.4664del	NM_015335.5	NP_056150.1:p.(Ala1555ValfsTer45)	NC_000012.11:g.116421213del	(Likely) pathogenic	1 lab	1e9d6e7beb
X:70342969 MED12 G>A	X	70342969	70342969	G	A	MED12	c.1510G>A	NM_005120.3	NP_005111.2:p.(Val504Met)	NC_000023.10:g.70342969G>A	(Likely) pathogenic	1 lab	e558e28172
17:40689558 NAGLU C>T	17	40689558	40689558	C	T	NAGLU	c.526C>T	NM_000263.3	NP_000254.2:p.(Gln176Ter)	NC_000017.10:g.40689558C>T	(Likely) pathogenic	1 lab	1e9efca32a
21:19770186 TMPRSS15 C>G	21	19770186	19770186	C	G	TMPRSS15	c.344+10G>C	NM_002772.2	NP_002763.2:p.?	NC_000021.8:g.19770186C>G	(Likely) benign	1 lab	1ea0099731
22:30070823 NF2 A>G	22	30070823	30070823	A	G	NF2	c.1341-2A>G	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30070823A>G	(Likely) pathogenic	1 lab	1ea0497c7b
12:7241884 C1R T>G	12	7241884	7241884	T	G	C1R	c.768+5A>C	NM_001733.7	NP_001724.4:p.?	NC_000012.11:g.7241884T>G	(Likely) benign	1 lab	e559b6a5a2
2:179553392 TTN C>G	2	179553392	179553392	C	G	TTN	c.32197+12G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179553392C>G	(Likely) benign	1 lab	e55ad11a89
10:19494005 MALRD1 C>G	10	19494005	19494005	C	G	MALRD1	c.2389C>G	NM_001142308.3	NP_001135780.2:p.(Leu797Val)	NC_000010.10:g.19494005C>G	VUS	1 lab	1ea2e8de94
2:179458435 TTN G>A	2	179458435	179458435	G	A	TTN	c.58592C>T	NM_001267550.2	NP_001254479.2:p.(Thr19531Ile)	NC_000002.11:g.179458435G>A	VUS	1 lab	e562efab20
2:179428590 TTN C>A	2	179428590	179428590	C	A	TTN	c.82269G>T	NM_001267550.1	NP_001254479.1:p.(Glu27423Asp)	NC_000002.11:g.179428590C>A	VUS	1 lab	1ea470fa91
2:30142872 ALK C>T	2	30142872	30142872	C	T	ALK				NC_000002.11:g.30142872C>T	(Likely) benign	1 lab	1ea6b55ae9
13:100637714 ZIC2 AGCGGCGGCG>A	13	100637714	100637728	AGCGGCGGCG	A	ZIC2	c.1383_1391del	NM_007129.5	NP_009060.2:p.(Ala468_Ala470del)	NC_000013.10:g.100637720_100637728del	VUS	1 lab	1ea741f844
12:111856105 SH2B3 T>G	12	111856105	111856105	T	G	SH2B3	c.156T>G	NM_005475.2	NP_005466.1:p.(His52Gln)	NC_000012.11:g.111856105T>G	VUS	1 lab	1eaa8da47c
15:79223877 CTSH G>C	15	79223877	79223877	G	C	CTSH	c.62C>G	NM_001319137.1	NP_001306066.1:p.(Ala21Gly)	NC_000015.9:g.79223877G>C	VUS	1 lab	1eaa95d171
15:90319694 MESP2 TCCTCCGATTCG>T	15	90319694	90319705	TCCTCCGATTCG	T	MESP2	c.107_117del	NM_001039958.2	NP_001035047.1:p.(Ser36PhefsTer327)	NC_000015.9:g.90319695_90319705del	(Likely) benign	1 lab	1eabc4eb7b
3:190126161 CLDN16 T>C	3	190126161	190126161	T	C	CLDN16	c.651T>C	NM_006580.3	NP_006571.1:p.(Ser217=)	NC_000003.11:g.190126161T>C	(Likely) benign	1 lab	1eac5be86a
11:6629343 ILK T>A	11	6629343	6629343	T	A	ILK	c.157T>A	NM_004517.2	NP_004508.1:p.(Leu53Met)	NC_000011.9:g.6629343T>A	VUS	1 lab	243cbeeb5d
1:152277309 FLG G>A	1	152277309	152277309	G	A	FLG	c.10053C>T	NM_002016.1	NP_002007.1:p.(Asp3351=)	NC_000001.10:g.152277309G>A	(Likely) benign	1 lab	1eaf5287d3
3:53707145 CACNA1D A>G	3	53707145	53707145	A	G	CACNA1D	c.1212A>G	NM_001128840.3	NP_001122312.1:p.(Val404=)	NC_000003.11:g.53707145A>G	(Likely) benign	1 lab	1eaf9e0cba
17:29685525 NF1 CAC>AA	17	29685525	29685527	CAC	AA	NF1	c.7935_7937delinsAA	NM_000267.3	NP_000258.1:p.(Asn2645LysfsTer13)	NC_000017.10:g.29685525_29685527delinsAA	(Likely) pathogenic	1 lab	1eb00a705b
10:50667248 ERCC6 A>T	10	50667248	50667248	A	T	ERCC6	c.4095T>A	NM_000124.2	NP_000115.1:p.(Asn1365Lys)	NC_000010.10:g.50667248A>T	(Likely) benign	1 lab	1eb190a1e9
2:234675829 UGT1A1 C>T	2	234675829	234675829	C	T	UGT1A1	c.996+18C>T	NM_000463.2	NP_000454.1:p.?	NC_000002.11:g.234675829C>T	(Likely) benign	1 lab	1eb19ae515
1:235916436 LYST A>G	1	235916436	235916436	A	G	LYST	c.7368T>C	NM_001301365.1	NP_001288294.1:p.(Asn2456=)	NC_000001.10:g.235916436A>G	(Likely) benign	1 lab	1eb2b3e551
4:76570629 G3BP2 T>C	4	76570629	76570629	T	C	G3BP2	c.1434A>G	NM_203505.2	NP_987101.1:p.(Thr478=)	NC_000004.11:g.76570629T>C	(Likely) benign	1 lab	1eb3ad9cd5
5:112111434 APC TGTAA>T	5	112111434	112111442	TGTAA	T	APC	c.531+5_531+8del	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111439_112111442del	(Likely) pathogenic	1 lab	1eb3c77216
10:67748504 CTNNA3 C>A	10	67748504	67748504	C	A	CTNNA3	c.2211G>T	NM_013266.4	NP_037398.2:p.(Met737Ile)	NC_000010.10:g.67748504C>A	VUS	1 lab	e566634ffc
17:78320202 RNF213 C>T	17	78320202	78320202	C	T	RNF213	c.8067C>T	NM_001256071.2	NP_001243000.2:p.(Ile2689=)	NC_000017.10:g.78320202C>T	(Likely) benign	1 lab	1eb71f1d8d
2:242690658 D2HGDH T>C	2	242690658	242690658	T	C	D2HGDH	c.998-3T>C	NM_152783.4	NP_689996.4:p.?	NC_000002.11:g.242690658T>C	VUS	1 lab	1eb7fb2dc6
2:220418415 OBSL1 G>A	2	220418415	220418415	G	A	OBSL1	c.4877-7C>T	NM_015311.2	NP_056126.1:p.?	NC_000002.11:g.220418415G>A	(Likely) benign	1 lab	1eb96ff265
19:56201271 EPN1 G>A	19	56201271	56201271	G	A	EPN1	c.975G>A	NM_001130071.1	NP_001123543.1:p.(Gln325=)	NC_000019.9:g.56201271G>A	(Likely) benign	1 lab	1eb99b4ec1
6:38747813 DNAH8 A>G	6	38747813	38747813	A	G	DNAH8	c.2111A>G	NM_001206927.1	NP_001193856.1:p.(Tyr704Cys)	NC_000006.11:g.38747813A>G	VUS	1 lab	1eba550c3d
1:45224908 KIF2C C>T	1	45224908	45224908	C	T	KIF2C	c.1093C>T	NM_001297656.1	NP_001284585.1:p.(Leu365=)	NC_000001.10:g.45224908C>T	(Likely) benign	1 lab	1ebbab86c0
10:90695091 ACTA2 G>A	10	90695091	90695091	G	A	ACTA2	c.1023C>T	NM_001141945.1	NP_001135417.1:p.(Val341=)	NC_000010.10:g.90695091G>A	(Likely) benign	1 lab	1ebc4c36ec
3:52326812 GLYCTK G>A	3	52326812	52326812	G	A	GLYCTK	c.1242G>A	NM_145262.3	NP_660305.2:p.(Leu414=)	NC_000003.11:g.52326812G>A	(Likely) benign	1 lab	1ebcd1696f
21:46907338 COL18A1 C>A	21	46907338	46907338	C	A	COL18A1	c.1834-23C>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46907338C>A	(Likely) benign	1 lab	1ebe2fb9e3
2:238280737 COL6A3 C>T	2	238280737	238280737	C	T	COL6A3	c.3923G>A	NM_004369.3	NP_004360.2:p.(Arg1308Gln)	NC_000002.11:g.238280737C>T	(Likely) benign	1 lab	1ebf5c5419
11:17667149 OTOG C>T	11	17667149	17667149	C	T	OTOG	c.8536C>T	NM_001277269.1	NP_001264198.1:p.(Arg2846Cys)	NC_000011.9:g.17667149C>T	VUS	1 lab	1ebf632573
11:66512295 TOP6BL G>GCGC	11	66512295	66512298	G	GCGC	TOP6BL	c.84_85insCCG	NM_024650.3	NP_078926.3:p.(Ala28_Ala29insPro)	NC_000011.9:g.66512297_66512298insCCG	VUS	1 lab	1ec03a3682
X:100169389 XKRX G>A	X	100169389	100169389	G	A	XKRX	c.1288C>T	NM_212559.2	NP_997724.2:p.(Arg430Trp)	NC_000023.10:g.100169389G>A	(Likely) benign	1 lab	1ec10b0f51
1:1470769 TMEM240 G>A	1	1470769	1470769	G	A	TMEM240	c.492C>T	NM_001114748.1	NP_001108220.1:p.(His164=)	NC_000001.10:g.1470769G>A	(Likely) benign	1 lab	1ec1d5e0d9
X:7870085 PNPLA4 G>A	X	7870085	7870085	G	A	PNPLA4	c.575C>T	NM_004650.2	NP_004641.1:p.(Pro192Leu)	NC_000023.10:g.7870085G>A	(Likely) benign	1 lab	1ec25b3739
11:62491775 HNRNPUL2 G>C	11	62491775	62491775	G	C	HNRNPUL2	c.662C>G	NM_001079559.2	NP_001073027.1:p.(Ala221Gly)	NC_000011.9:g.62491775G>C	VUS	1 lab	1ec3be7cd3
11:19204264 CSRP3 C>A	11	19204264	19204264	C	A	CSRP3	c.538G>T	NM_003476.5	NP_003467.1:p.(Gly180Cys)	NC_000011.9:g.19204264C>A	(Likely) benign	1 lab	e56c81a313
X:31645922 DMD G>C	X	31645922	31645922	G	C	DMD	c.7716C>G	NM_004010.3	NP_004001.1:p.(Pro2572=)	NC_000023.10:g.31645922G>C	(Likely) benign	1 lab	1ec710d97c
9:98209735 PTCH1 T>C	9	98209735	98209735	T	C	PTCH1	c.3607-2A>G	NM_001083602.3	NP_001077071.1:p.?	NC_000009.11:g.98209735T>C	VUS	1 lab	e572c4afd6
X:53611165 HUWE1 A>G	X	53611165	53611165	A	G	HUWE1	c.5142T>C	NM_031407.6	NP_113584.3:p.(Arg1714=)	NC_000023.10:g.53611165A>G	(Likely) benign	1 lab	1eca8b1219
9:135173458 SETX A>G	9	135173458	135173458	A	G	SETX	c.5781+9T>C	NM_001351527.1	NP_001338456.1:p.?	NC_000009.11:g.135173458A>G	(Likely) benign	1 lab	1ecbeda43b
19:3982931 EEF2 G>A	19	3982931	3982931	G	A	EEF2	c.486C>T	NM_001961.3	NP_001952.1:p.(Arg162=)	NC_000019.9:g.3982931G>A	(Likely) benign	1 lab	1eccb82ed5
19:54307384 NLRP12 G>A	19	54307384	54307384	G	A	NLRP12	c.2418-8C>T	NM_001277126.1	NP_001264055.1:p.?	NC_000019.9:g.54307384G>A	(Likely) benign	1 lab	1ecd934bc7
10:69934258 MYPN C>A	10	69934258	69934258	C	A	MYPN	c.2409C>A	NM_032578.3	NP_115967.2:p.(Ser803Arg)	NC_000010.10:g.69934258C>A	VUS	1 lab	1ed12a163a
1:46500437 MAST2 C>T	1	46500437	46500437	C	T	MAST2	c.3634C>T	NM_001324321.1	NP_001311250.1:p.(Leu1212=)	NC_000001.10:g.46500437C>T	(Likely) benign	1 lab	1ed17aab37
1:116233896 VANGL1 G>A	1	116233896	116233896	G	A	VANGL1	c.1471G>A	NM_138959.2	NP_620409.1:p.(Val491Ile)	NC_000001.10:g.116233896G>A	(Likely) benign	1 lab	1ed1f1a80f
22:29091762 CHEK2 C>T	22	29091762	29091762	C	T	CHEK2	c.1195G>A	NM_007194.4	NP_009125.1:p.(Val399Ile)	NC_000022.10:g.29091762C>T	VUS	1 lab	e574037973
X:38535078 TSPAN7 C>A	X	38535078	38535078	C	A	TSPAN7	c.561C>A	NM_004615.3	NP_004606.2:p.(His187Gln)	NC_000023.10:g.38535078C>A	(Likely) benign	1 lab	1ed570e085
11:613966 IRF7 C>G	11	613966	613966	C	G	IRF7	c.790G>C	NM_004031.3	NP_004022.2:p.(Ala264Pro)	NC_000011.9:g.613966C>G	(Likely) benign	1 lab	1ed6a482a2
16:31196312 FUS C>T	16	31196312	31196312	C	T	FUS	c.576C>T	NM_004960.3	NP_004951.1:p.(Gly192=)	NC_000016.9:g.31196312C>T	(Likely) benign	1 lab	1ed73cbba3
6:152755013 SYNE1 C>T	6	152755013	152755013	C	T	SYNE1	c.4378G>A	NM_182961.3	NP_892006.3:p.(Val1460Ile)	NC_000006.11:g.152755013C>T	(Likely) benign	1 lab	1ed747a80e
4:187521501 FAT1 C>T	4	187521501	187521501	C	T	FAT1	c.11654G>A	NM_005245.3	NP_005236.2:p.(Arg3885Lys)	NC_000004.11:g.187521501C>T	(Likely) benign	1 lab	1ed80367af
3:193361785 OPA1 G>T	3	193361785	193361785	G	T	OPA1	c.1499G>T	NM_130837.2	NP_570850.2:p.(Arg500Leu)	NC_000003.11:g.193361785G>T	VUS	1 lab	1eda49764a
X:101138662 ZMAT1 C>T	X	101138662	101138662	C	T	ZMAT1	c.1224G>A	NM_001282400.1	NP_001269329.1:p.(Arg408=)	NC_000023.10:g.101138662C>T	(Likely) benign	1 lab	1edb4a89be
12:49447878 KMT2D A>G	12	49447878	49447878	A	G	KMT2D	c.556T>C	NM_003482.4	NP_003473.3:p.(Ser186Pro)	NC_000012.11:g.49447878A>G	VUS	1 lab	e577a7ef4a
4:39507368 UGDH C>T	4	39507368	39507368	C	T	UGDH	c.907G>A	NM_003359.4	NP_003350.1:p.(Val303Ile)	NC_000004.11:g.39507368C>T	VUS	1 lab	1ede93a8ab
16:88745017 SNAI3 A>G	16	88745017	88745017	A	G	SNAI3	c.718T>C	NM_178310.4	NP_840101.1:p.(Ser240Pro)	NC_000016.9:g.88745017A>G	(Likely) benign	1 lab	1ede949890
17:29556376 NF1 AC>A	17	29556376	29556378	AC	A	NF1	c.2745del	NM_001042492.3	NP_001035957.1:p.(Asn916MetfsTer8)	NC_000017.10:g.29556378del	(Likely) pathogenic	1 lab	1edfbd63e2
22:32253488 DEPDC5 C>T	22	32253488	32253488	C	T	DEPDC5	c.3213C>T	NM_001242896.2	NP_001229825.1:p.(Ala1071=)	NC_000022.10:g.32253488C>T	(Likely) benign	1 lab	1ee13a4acc
3:47163328 SETD2 C>A	3	47163328	47163328	C	A	SETD2	c.2798G>T	NM_014159.6	NP_054878.5:p.(Gly933Val)	NC_000003.11:g.47163328C>A	(Likely) benign	1 lab	1ee2e5cb45
2:149247179 MBD5 C>T	2	149247179	149247179	C	T	MBD5	c.3279C>T	NM_018328.4	NP_060798.2:p.(Val1093=)	NC_000002.11:g.149247179C>T	(Likely) benign	1 lab	1ee459d3c7
4:187525560 FAT1 C>T	4	187525560	187525560	C	T	FAT1	c.10519G>A	NM_005245.3	NP_005236.2:p.(Glu3507Lys)	NC_000004.11:g.187525560C>T	(Likely) benign	1 lab	1ee5d1ced4
4:71508137 ENAM A>G	4	71508137	71508137	A	G	ENAM	c.994A>G	NM_031889.3	NP_114095.2:p.(Arg332Gly)	NC_000004.11:g.71508137A>G	VUS	1 lab	1ee60f6859
18:7040203 LAMA1 C>A	18	7040203	7040203	C	A	LAMA1	c.1294G>T	NM_005559.3	NP_005550.2:p.(Gly432Cys)	NC_000018.9:g.7040203C>A	VUS	1 lab	1ee687ebd4
X:19764512 SH3KBP1 T>G	X	19764512	19764512	T	G	SH3KBP1	c.210A>C	NM_001353891.1	NP_001340820.1:p.(Pro70=)	NC_000023.10:g.19764512T>G	(Likely) benign	1 lab	1ee68e610c
2:220250774 DNPEP C>T	2	220250774	220250774	C	T	DNPEP	c.464G>A	NM_001319119.1	NP_001306048.1:p.(Arg155Gln)	NC_000002.11:g.220250774C>T	VUS	1 lab	1ee92f11d5
6:31833288 SLC44A4 T>C	6	31833288	31833288	T	C	SLC44A4	c.1445A>G	NM_001178045.1	NP_001171516.1:p.(Asn482Ser)	NC_000006.11:g.31833288T>C	VUS	1 lab	1eec17703e
17:18051466 MYO15A C>T	17	18051466	18051466	C	T	MYO15A	c.6633C>T	NM_016239.3	NP_057323.3:p.(Leu2211=)	NC_000017.10:g.18051466C>T	(Likely) benign	1 lab	1ef0ec5e40
X:49179708 GAGE12J T>G	X	49179708	49179708	T	G	GAGE12J	c.36T>G	NM_001098406.2	NP_001091876.2:p.(Pro12=)	NC_000023.10:g.49179708T>G	(Likely) benign	1 lab	1ef2131a0e
16:2108879 TSC2 G>C	16	2108879	2108879	G	C	TSC2	c.975+5G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2108879G>C	(Likely) benign	1 lab	1ef4ee8bf8
16:84118660 MBTPS1 C>G	16	84118660	84118660	C	G	MBTPS1	c.1214G>C	NM_003791.3	NP_003782.1:p.(Gly405Ala)	NC_000016.9:g.84118660C>G	(Likely) benign	1 lab	1ef7c878f4
14:60977864 SIX6 C>A	14	60977864	60977864	C	A	SIX6	c.635C>A	NM_007374.2	NP_031400.2:p.(Thr212Lys)	NC_000014.8:g.60977864C>A	(Likely) benign	1 lab	1ef7dca29a
1:24401933 MYOM3 C>T	1	24401933	24401933	C	T	MYOM3	c.2734G>A	NM_152372.4	NP_689585.3:p.(Glu912Lys)	NC_000001.10:g.24401933C>T	VUS	1 lab	1ef8211052
11:124756465 ROBO4 C>T	11	124756465	124756465	C	T	ROBO4	c.2689G>A	NM_019055.6	NP_061928.4:p.(Asp897Asn)	NC_000011.9:g.124756465C>T	VUS	1 lab	e577da040d
1:91403431 ZNF644 C>T	1	91403431	91403431	C	T	ZNF644	c.3299G>A	NM_201269.2	NP_958357.1:p.(Arg1100His)	NC_000001.10:g.91403431C>T	(Likely) benign	1 lab	1ef92bd03f
1:39907977 MACF1 A>G	1	39907977	39907977	A	G	MACF1	c.12756A>G	NM_012090.5	NP_036222.3:p.(Lys4252=)	NC_000001.10:g.39907977A>G	(Likely) benign	1 lab	1ef963b78f
15:85400207 ALPK3 T>A	15	85400207	85400207	T	A	ALPK3	c.2844T>A	NM_020778.4	NP_065829.3:p.(Gly948=)	NC_000015.9:g.85400207T>A	(Likely) benign	1 lab	1ef9bdf03d
11:71944734 INPPL1 C>T	11	71944734	71944734	C	T	INPPL1	c.2158C>T	NM_001567.3	NP_001558.3:p.(Pro720Ser)	NC_000011.9:g.71944734C>T	VUS	1 lab	1efc23c18b
15:73616123 HCN4 G>A	15	73616123	73616123	G	A	HCN4	c.2311C>T	NM_005477.2	NP_005468.1:p.(Pro771Ser)	NC_000015.9:g.73616123G>A	VUS	1 lab	1efc9f4cd7
1:247587723 NLRP3 G>A	1	247587723	247587723	G	A	NLRP3	c.972G>A	NM_001243133.1	NP_001230062.1:p.(Glu324=)	NC_000001.10:g.247587723G>A	(Likely) benign	1 lab	1efca505a6
11:17663676 OTOG C>A	11	17663676	17663676	C	A	OTOG	c.8334C>A	NM_001277269.1	NP_001264198.1:p.(Pro2778=)	NC_000011.9:g.17663676C>A	(Likely) benign	1 lab	1effc5b4fd
2:98349797 ZAP70 G>A	2	98349797	98349797	G	A	ZAP70	c.828G>A	NM_001079.3	NP_001070.2:p.(Thr276=)	NC_000002.11:g.98349797G>A	(Likely) benign	1 lab	1f00347aae
X:47060736 UBA1 C>T	X	47060736	47060736	C	T	UBA1	c.649C>T	NM_003334.4	NP_003325.2:p.(Leu217Phe)	NC_000023.10:g.47060736C>T	(Likely) benign	1 lab	1f004f20dd
16:222918 HBA2 C>T	16	222918	222918	C	T	HBA2	c.7C>T	NM_000517.6	NP_000508.1:p.(Leu3=)	NC_000016.9:g.222918C>T	(Likely) benign	1 lab	1f00a54333
7:117120222 CFTR G>A	7	117120222	117120222	G	A	CFTR	c.53+21G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117120222G>A	(Likely) benign	1 lab	1f0237e2e7
4:158091640 GLRB T>G	4	158091640	158091640	T	G	GLRB	c.1254T>G	NM_000824.5	NP_000815.1:p.(Asn418Lys)	NC_000004.11:g.158091640T>G	VUS	1 lab	e578e07052
X:129168457 BCORL1 A>T	X	129168457	129168457	A	T	BCORL1	c.4333A>T	NM_001184772.2	NP_001171701.1:p.(Thr1445Ser)	NC_000023.10:g.129168457A>T	VUS	1 lab	1f03b424d5
7:19156535 TWIST1 G>A	7	19156535	19156535	G	A	TWIST1	c.410C>T	NM_000474.3	NP_000465.1:p.(Thr137Met)	NC_000007.13:g.19156535G>A	(Likely) pathogenic	1 lab	1f053dc703
14:21794102 RPGRIP1 G>A	14	21794102	21794102	G	A	RPGRIP1	c.2480G>A	NM_020366.3	NP_065099.3:p.(Arg827His)	NC_000014.8:g.21794102G>A	VUS	1 lab	1f05a63fba
11:118376249 KMT2A A>G	11	118376249	118376249	A	G	KMT2A	c.9642A>G	NM_001197104.1	NP_001184033.1:p.(Val3214=)	NC_000011.9:g.118376249A>G	(Likely) benign	1 lab	1f09ca1f02
7:150814228 AGAP3 G>A	7	150814228	150814228	G	A	AGAP3	c.437G>A	NM_031946.6	NP_114152.3:p.(Arg146His)	NC_000007.13:g.150814228G>A	VUS	1 lab	1f0a053bce
3:121712793 ILDR1 G>A	3	121712793	121712793	G	A	ILDR1	c.803C>T	NM_001199799.1	NP_001186728.1:p.(Pro268Leu)	NC_000003.11:g.121712793G>A	VUS	1 lab	1f0a642afb
15:48431163 SLC24A5 C>T	15	48431163	48431163	C	T	SLC24A5	c.872-3C>T	NM_205850.2	NP_995322.1:p.?	NC_000015.9:g.48431163C>T	(Likely) benign	1 lab	1f0baf5ca4
7:33313566 BBS9 G>T	7	33313566	33313566	G	T	BBS9	c.1014G>T	NM_198428.2	NP_940820.1:p.(Leu338Phe)	NC_000007.13:g.33313566G>T	VUS	1 lab	1f0bdb2f91
3:52404547 DNAH1 C>G	3	52404547	52404547	C	G	DNAH1	c.6313C>G	NM_015512.4	NP_056327.4:p.(Pro2105Ala)	NC_000003.11:g.52404547C>G	VUS	1 lab	1f0d47d97f
8:61757621 CHD7 C>T	8	61757621	61757621	C	T	CHD7				NC_000008.10:g.61757621C>T	(Likely) benign	1 lab	1f0e1467ad
6:152782740 SYNE1 G>C	6	152782740	152782740	G	C	SYNE1	c.2386C>G	NM_182961.3	NP_892006.3:p.(Leu796Val)	NC_000006.11:g.152782740G>C	VUS	1 lab	1f0efaa98f
11:17579800 OTOG G>A	11	17579800	17579800	G	A	OTOG	c.970G>A	NM_001277269.1	NP_001264198.1:p.(Gly324Arg)	NC_000011.9:g.17579800G>A	(Likely) benign	1 lab	1f0fa06c73
X:150907342 CNGA2 G>T	X	150907342	150907342	G	T	CNGA2	c.194G>T	NM_005140.1	NP_005131.1:p.(Gly65Val)	NC_000023.10:g.150907342G>T	(Likely) benign	1 lab	1f10d2cdd9
3:100119690 TOMM70 C>A	3	100119690	100119690	C	A	TOMM70	c.104G>T	NM_014820.5	NP_055635.3:p.(Gly35Val)	NC_000003.11:g.100119690C>A	VUS	1 lab	e57c476bc2
6:35477667 TULP1 G>A	6	35477667	35477667	G	A	TULP1	c.538C>T	NM_003322.5	NP_003313.3:p.(Arg180Cys)	NC_000006.11:g.35477667G>A	VUS	1 lab	1f18a15425
17:48277059 COL1A1 AGCCCCAG>A	17	48277059	48277099	AGCCCCAG	A	COL1A1	c.298+48_298+54del	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48277093_48277099del	(Likely) benign	1 lab	e57c5d1a68
15:25616862 UBE3A A>G	15	25616862	25616862	A	G	UBE3A	c.468T>C	NM_000462.5	NP_000453.2:p.(Val156=)	NC_000015.9:g.25616862A>G	(Likely) benign	1 lab	1f1a686d3d
16:2112996 TSC2 G>A	16	2112996	2112996	G	A	TSC2	c.1385G>A	NM_001114382.2	NP_001107854.1:p.(Arg462His)	NC_000016.9:g.2112996G>A	VUS	1 lab	1f1ade3d48
4:170345733 NEK1 T>C	4	170345733	170345733	T	C	NEK1	c.3193A>G	NM_001199397.1	NP_001186326.1:p.(Thr1065Ala)	NC_000004.11:g.170345733T>C	VUS	1 lab	1f1b1c2fdc
6:2948553 SERPINB6 G>A	6	2948553	2948553	G	A	SERPINB6	c.1110C>T	NM_001297699.1	NP_001284628.1:p.(Cys370=)	NC_000006.11:g.2948553G>A	(Likely) benign	1 lab	1f1c813938
16:2131608 TSC2 G>A	16	2131608	2131608	G	A	TSC2	c.3623G>A	NM_000548.3	NP_000539.2:p.(Trp1208Ter)	NC_000016.9:g.2131608G>A	(Likely) pathogenic	1 lab	1f1cd1e322
3:38945515 SCN11A G>T	3	38945515	38945515	G	T	SCN11A	c.1683C>A	NM_001349253.1	NP_001336182.1:p.(Pro561=)	NC_000003.11:g.38945515G>T	(Likely) benign	1 lab	1f1ed2891a
5:70810878 BDP1 A>G	5	70810878	70810878	A	G	BDP1	c.4578A>G	NM_018429.2	NP_060899.2:p.(Ser1526=)	NC_000005.9:g.70810878A>G	(Likely) benign	1 lab	1f1fe7574a
3:148881674 HPS3 G>A	3	148881674	148881674	G	A	HPS3	c.2527G>A	NM_032383.4	NP_115759.2:p.(Val843Ile)	NC_000003.11:g.148881674G>A	(Likely) benign	1 lab	1f2365f2d2
15:96880679 NR2F2 C>T	15	96880679	96880679	C	T	NR2F2	c.1073C>T	NM_021005.4	NP_066285.1:p.(Thr358Met)	NC_000015.9:g.96880679C>T	VUS	1 lab	1f23f3cd2b
2:27601352 ZNF513 C>T	2	27601352	27601352	C	T	ZNF513	c.781G>A	NM_144631.5	NP_653232.3:p.(Val261Met)	NC_000002.11:g.27601352C>T	(Likely) benign	1 lab	1f261e6724
2:179439549 TTN G>C	2	179439549	179439549	G	C	TTN	c.71310C>G	NM_001267550.1	NP_001254479.1:p.(Asp23770Glu)	NC_000002.11:g.179439549G>C	VUS	1 lab	1f26480100
X:34961846 FAM47B C>A	X	34961846	34961846	C	A	FAM47B	c.898C>A	NM_152631.2	NP_689844.2:p.(Pro300Thr)	NC_000023.10:g.34961846C>A	(Likely) benign	1 lab	1f26673e77
5:172660109 NKX2-5 C>T	5	172660109	172660109	C	T	NKX2-5	c.438G>A	NM_004387.3	NP_004378.1:p.(Ser146=)	NC_000005.9:g.172660109C>T	(Likely) benign	1 lab	1f26bafd41
5:135382130 TGFBI C>T	5	135382130	135382130	C	T	TGFBI	c.405C>T	NM_000358.2	NP_000349.1:p.(Pro135=)	NC_000005.9:g.135382130C>T	(Likely) benign	1 lab	1f2754ab51
9:140137004 TUBB4B C>T	9	140137004	140137004	C	T	TUBB4B	c.334C>T	NM_006088.6	NP_006079.1:p.(Leu112=)	NC_000009.11:g.140137004C>T	(Likely) benign	1 lab	1f27ccf298
19:50411629 NUP62 T>C	19	50411629	50411629	T	C	NUP62	c.1436A>G	NM_016553.5	NP_057637.2:p.(Asn479Ser)	NC_000019.9:g.50411629T>C	VUS	1 lab	e583cfd3a0
21:47817966 PCNT C>G	21	47817966	47817966	C	G	PCNT	c.4485C>G	NM_006031.5	NP_006022.3:p.(Phe1495Leu)	NC_000021.8:g.47817966C>G	VUS	1 lab	1f2883a9a3
10:48381934 RBP3 G>A	10	48381934	48381934	G	A	RBP3	c.3715C>T	NM_002900.2	NP_002891.1:p.(Arg1239Trp)	NC_000010.10:g.48381934G>A	VUS	1 lab	1f288786f7
2:74758211 HTRA2 T>C	2	74758211	74758211	T	C	HTRA2	c.885T>C	NM_013247.4	NP_037379.1:p.(Ile295=)	NC_000002.11:g.74758211T>C	(Likely) benign	1 lab	1f289bdb1a
X:153037386 PLXNB3 G>T	X	153037386	153037386	G	T	PLXNB3	c.2654G>T	NM_001163257.1	NP_001156729.1:p.(Arg885Leu)	NC_000023.10:g.153037386G>T	(Likely) benign	1 lab	1f29284ccb
17:44248233 KANSL1 C>G	17	44248233	44248233	C	G	KANSL1	c.1277G>C	NM_001193466.2	NP_001180395.1:p.(Arg426Pro)	NC_000017.10:g.44248233C>G	VUS	1 lab	e586b6b9de
15:80869293 ARNT2 G>A	15	80869293	80869293	G	A	ARNT2	c.1600G>A	NM_014862.4	NP_055677.3:p.(Gly534Arg)	NC_000015.9:g.80869293G>A	VUS	1 lab	1f2b3f79ba
15:63950903 HERC1 C>T	15	63950903	63950903	C	T	HERC1	c.9439G>A	NM_003922.3	NP_003913.3:p.(Val3147Ile)	NC_000015.9:g.63950903C>T	(Likely) benign	1 lab	1f2b915c84
2:135878409 RAB3GAP1 G>T	2	135878409	135878409	G	T	RAB3GAP1	c.669G>T	NM_001172435.1	NP_001165906.1:p.(Leu223Phe)	NC_000002.11:g.135878409G>T	(Likely) benign	1 lab	1f2cc0c92d
14:64630125 SYNE2 G>A	14	64630125	64630125	G	A	SYNE2	c.16305G>A	NM_182914.2	NP_878918.2:p.(Leu5435=)	NC_000014.8:g.64630125G>A	(Likely) benign	1 lab	1f2e0e3c3c
14:51202231 NIN T>C	14	51202231	51202231	T	C	NIN	c.5877+3A>G	NM_020921.3	NP_065972.3:p.?	NC_000014.8:g.51202231T>C	(Likely) benign	1 lab	1f2f37fbdb
11:117866350 IL10RA G>C	11	117866350	117866350	G	C	IL10RA	c.735G>C	NM_001558.3	NP_001549.2:p.(Leu245=)	NC_000011.9:g.117866350G>C	(Likely) benign	1 lab	1f2fc1acbd
11:721909 EPS8L2 T>A	11	721909	721909	T	A	EPS8L2	c.902T>A	NM_022772.3	NP_073609.2:p.(Val301Asp)	NC_000011.9:g.721909T>A	VUS	1 lab	1f30504384
11:108199874 ATM A>G	11	108199874	108199874	A	G	ATM	c.7216A>G	NM_000051.4	NP_000042.3:p.(Lys2406Glu)	NC_000011.9:g.108199874A>G	VUS	1 lab	e5883eafcc
8:6500549 MCPH1 A>C	8	6500549	6500549	A	C	MCPH1	c.2487A>C	NM_024596.4	NP_078872.2:p.(Glu829Asp)	NC_000008.10:g.6500549A>C	(Likely) benign	1 lab	1f32577fcb
11:61136155 TMEM138 A>G	11	61136155	61136155	A	G	TMEM138	c.463A>G	NM_016464.4	NP_057548.1:p.(Lys155Glu)	NC_000011.9:g.61136155A>G	VUS	1 lab	1f36f83e16
2:30143454 ALK C>T	2	30143454	30143454	C	T	ALK				NC_000002.11:g.30143454C>T	(Likely) benign	1 lab	1f39b5b0f3
16:2367334 ABCA3 G>A	16	2367334	2367334	G	A	ABCA3	c.1061C>T	NM_001089.2	NP_001080.2:p.(Ala354Val)	NC_000016.9:g.2367334G>A	VUS	1 lab	1f3a654c26
15:43821000 MAP1A C>G	15	43821000	43821000	C	G	MAP1A	c.7329C>G	NM_002373.6	NP_002364.5:p.(Pro2443=)	NC_000015.9:g.43821000C>G	(Likely) benign	1 lab	1f3a9c7491
5:140562893 PCDHB16 G>C	5	140562893	140562893	G	C	PCDHB16	c.759G>C	NM_020957.3	NP_066008.2:p.(Glu253Asp)	NC_000005.9:g.140562893G>C	VUS	1 lab	1f3aadf8b4
X:100240810 ARL13A C>T	X	100240810	100240810	C	T	ARL13A	c.285C>T	NM_001162491.1	NP_001155963.1:p.(Val95=)	NC_000023.10:g.100240810C>T	(Likely) benign	1 lab	1f3b12c28e
22:32217495 DEPDC5 C>T	22	32217495	32217495	C	T	DEPDC5	c.1878C>T	NM_001136029.3	NP_001129501.1:p.(Ser626=)	NC_000022.10:g.32217495C>T	(Likely) benign	1 lab	1f3b2132db
20:5559099 GPCPD1 G>A	20	5559099	5559099	G	A	GPCPD1	c.632C>T	NM_019593.3	NP_062539.1:p.(Pro211Leu)	NC_000020.10:g.5559099G>A	VUS	1 lab	1f3c047e4b
17:39633797 KRT35 C>T	17	39633797	39633797	C	T	KRT35	c.1193G>A	NM_002280.4	NP_002271.3:p.(Arg398Gln)	NC_000017.10:g.39633797C>T	VUS	1 lab	1f3d023717
3:121720197 ILDR1 G>A	3	121720197	121720197	G	A	ILDR1	c.604C>T	NM_001199799.1	NP_001186728.1:p.(Arg202Cys)	NC_000003.11:g.121720197G>A	VUS	1 lab	1f3d340019
19:45856080 ERCC2 G>A	19	45856080	45856080	G	A	ERCC2	c.1832-6C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45856080G>A	(Likely) benign	1 lab	1f3d7cdf5f
19:50365663 PNKP G>A	19	50365663	50365663	G	A	PNKP	c.994C>T	NM_007254.3	NP_009185.2:p.(Pro332Ser)	NC_000019.9:g.50365663G>A	(Likely) benign	1 lab	1f3da84ab7
17:29683955 NF1 G>A	17	29683955	29683955	G	A	NF1	c.7676-23G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29683955G>A	(Likely) benign	1 lab	1f3daf03bc
3:25661398 TOP2B C>T	3	25661398	25661398	C	T	TOP2B	c.3018G>A	NM_001330700.1	NP_001317629.1:p.(Leu1006=)	NC_000003.11:g.25661398C>T	(Likely) benign	1 lab	1f3dc162fe
1:216040340 USH2A C>T	1	216040340	216040340	C	T	USH2A	c.8845+9G>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216040340C>T	(Likely) benign	1 lab	1f3de64acf
16:15818661 MYH11 A>G	16	15818661	15818661	A	G	MYH11	c.3985-5T>C	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15818661A>G	(Likely) benign	1 lab	1f3f242f0b
1:74835125 TNNI3K G>A	1	74835125	74835125	G	A	TNNI3K	c.1523G>A	NM_015978.2	NP_057062.1:p.(Arg508Gln)	NC_000001.10:g.74835125G>A	VUS	1 lab	1f3fe936d5
10:95386586 PDE6C A>T	10	95386586	95386586	A	T	PDE6C	c.1029A>T	NM_006204.3	NP_006195.3:p.(Thr343=)	NC_000010.10:g.95386586A>T	(Likely) benign	1 lab	1f416500ae
1:216108075 USH2A G>A	1	216108075	216108075	G	A	USH2A	c.7183C>T	NM_206933.2	NP_996816.2:p.(Leu2395Phe)	NC_000001.10:g.216108075G>A	(Likely) benign	1 lab	1f4203bd0a
X:135428554 ADGRG4 T>C	X	135428554	135428554	T	C	ADGRG4	c.2689T>C	NM_153834.3	NP_722576.3:p.(Leu897=)	NC_000023.10:g.135428554T>C	(Likely) benign	1 lab	1f44a94686
7:1529033 INTS1 A>G	7	1529033	1529033	A	G	INTS1	c.2265T>C	NM_001080453.3	NP_001073922.2:p.(Ala755=)	NC_000007.13:g.1529033A>G	(Likely) benign	1 lab	1f44b7e54f
7:116340097 MET C>T	7	116340097	116340097	C	T	MET	c.959C>T	NM_001127500.1	NP_001120972.1:p.(Ala320Val)	NC_000007.13:g.116340097C>T	VUS	1 lab	1f44cb21d1
7:128470713 FLNC T>C	7	128470713	128470713	T	C	FLNC	c.22T>C	NM_001458.4	NP_001449.3:p.(Ser8Pro)	NC_000007.13:g.128470713T>C	(Likely) benign	1 lab	1f4644eed0
20:10624396 JAG1 T>C	20	10624396	10624396	T	C	JAG1	c.2458+30A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10624396T>C	(Likely) benign	1 lab	1f464c3c05
17:36486070 GPR179 G>A	17	36486070	36486070	G	A	GPR179	c.3382C>T	NM_001004334.3	NP_001004334.3:p.(Arg1128Ter)	NC_000017.10:g.36486070G>A	(Likely) pathogenic	1 lab	1f481c3531
3:4459777 SUMF1 C>T	3	4459777	4459777	C	T	SUMF1	c.642G>A	NM_182760.3	NP_877437.2:p.(Ala214=)	NC_000003.11:g.4459777C>T	(Likely) benign	1 lab	1f4968b1f5
X:10427768 MID1 G>A	X	10427768	10427768	G	A	MID1	c.1365C>T	NM_001347733.1	NP_001334662.1:p.(Ser455=)	NC_000023.10:g.10427768G>A	(Likely) benign	1 lab	1f4a039906
17:18077164 MYO15A A>G	17	18077164	18077164	A	G	MYO15A	c.10420A>G	NM_016239.3	NP_057323.3:p.(Ser3474Gly)	NC_000017.10:g.18077164A>G	VUS	1 lab	1f4a082b8b
16:54965280 IRX5 C>T	16	54965280	54965280	C	T	IRX5	c.170C>T	NM_005853.5	NP_005844.4:p.(Pro57Leu)	NC_000016.9:g.54965280C>T	VUS	1 lab	1f4a326727
X:54823477 ITIH6 T>C	X	54823477	54823477	T	C	ITIH6	c.155A>G	NM_198510.2	NP_940912.1:p.(His52Arg)	NC_000023.10:g.54823477T>C	(Likely) benign	1 lab	1f4b469992
19:33263733 TDRD12 A>G	19	33263733	33263733	A	G	TDRD12	c.940A>G	NM_001110822.1	NP_001104292.1:p.(Ile314Val)	NC_000019.9:g.33263733A>G	(Likely) benign	1 lab	1f4b5d4f19
X:64721941 ZC3H12B C>A	X	64721941	64721941	C	A	ZC3H12B	c.1363C>A	NM_001010888.3	NP_001010888.3:p.(Arg455Ser)	NC_000023.10:g.64721941C>A	VUS	1 lab	1f4b786c86
4:122250565 QRFPR C>A	4	122250565	122250565	C	A	QRFPR	c.1200G>T	NM_198179.2	NP_937822.2:p.(Leu400Phe)	NC_000004.11:g.122250565C>A	(Likely) benign	1 lab	1f4d4c7fbb
8:145541349 DGAT1 G>A	8	145541349	145541349	G	A	DGAT1	c.921C>T	NM_012079.5	NP_036211.2:p.(Ser307=)	NC_000008.10:g.145541349G>A	(Likely) benign	1 lab	1f4dec103d
19:10461586 TYK2 T>C	19	10461586	10461586	T	C	TYK2	c.3488A>G	NM_003331.4	NP_003322.3:p.(Glu1163Gly)	NC_000019.9:g.10461586T>C	(Likely) benign	1 lab	1f4e54170e
X:77284752 ATP7A C>A	X	77284752	77284752	C	A	ATP7A	c.2922C>A	NM_000052.6	NP_000043.4:p.(Tyr974Ter)	NC_000023.10:g.77284752C>A	(Likely) pathogenic	1 lab	1f4f900501
2:175215413 CIRSR T>C	2	175215413	175215413	T	C	CIRSR	c.652A>G	NM_004882.4	NP_004873.3:p.(Thr218Ala)	NC_000002.11:g.175215413T>C	VUS	1 lab	1f50458827
16:2150170 PKD1 C>T	16	2150170	2150170	C	T	PKD1	c.9709G>A	NM_001009944.2	NP_001009944.2:p.(Ala3237Thr)	NC_000016.9:g.2150170C>T	VUS	1 lab	1f52d82dbd
9:35720802 TLN1 T>C	9	35720802	35720802	T	C	TLN1	c.1206+7A>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35720802T>C	(Likely) benign	1 lab	1f54417586
14:102472420 DYNC1H1 G>A	14	102472420	102472420	G	A	DYNC1H1	c.5629G>A	NM_001376.4	NP_001367.2:p.(Asp1877Asn)	NC_000014.8:g.102472420G>A	VUS	1 lab	1f564747d9
17:4901453 KIF1C T>G	17	4901453	4901453	T	G	KIF1C	c.-149+2T>G	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4901453T>G	(Likely) pathogenic	1 lab	1f56a8dd70
2:27682667 IFT172 C>A	2	27682667	27682667	C	A	IFT172	c.2551G>T	NM_015662.2	NP_056477.1:p.(Val851Leu)	NC_000002.11:g.27682667C>A	(Likely) benign	1 lab	1f56f65f41
10:73405660 CDH23 G>A	10	73405660	73405660	G	A	CDH23	c.1213G>A	NM_022124.5	NP_071407.4:p.(Val405Ile)	NC_000010.10:g.73405660G>A	VUS	1 lab	1f5c6e6ae6
17:29585447 NF1 C>A	17	29585447	29585447	C	A	NF1	c.4196C>A	NM_000267.3	NP_000258.1:p.(Ser1399Ter)	NC_000017.10:g.29585447C>A	(Likely) pathogenic	1 lab	1f5eb84621
14:51058274 ATL1 A>T	14	51058274	51058274	A	T	ATL1	c.439A>T	NM_001127713.1	NP_001121185.1:p.(Thr147Ser)	NC_000014.8:g.51058274A>T	VUS	1 lab	1f5ef85d12
X:153927781 GAB3 C>T	X	153927781	153927781	C	T	GAB3	c.1133G>A	NM_001081573.2	NP_001075042.1:p.(Arg378Lys)	NC_000023.10:g.153927781C>T	(Likely) benign	1 lab	1f5f3406cf
10:12131108 DHTKD1 G>A	10	12131108	12131108	G	A	DHTKD1	c.841G>A	NM_018706.7	NP_061176.4:p.(Val281Met)	NC_000010.10:g.12131108G>A	VUS	1 lab	e595b21614
X:107334714 PSMD10 G>C	X	107334714	107334714	G	C	PSMD10	c.37C>G	NM_002814.3	NP_002805.1:p.(Leu13Val)	NC_000023.10:g.107334714G>C	(Likely) benign	1 lab	1f5fd3d82d
17:78082182 GAA TG>T	17	78082182	78082184	TG	T	GAA	c.1051del	NM_000152.5	NP_000143.2:p.(Val351CysfsTer41)	NC_000017.10:g.78082184del	(Likely) pathogenic	1 lab	1f601ca1da
20:42788759 JPH2 C>G	20	42788759	42788759	C	G	JPH2	c.668G>C	NM_020433.5	NP_065166.2:p.(Arg223Pro)	NC_000020.10:g.42788759C>G	VUS	1 lab	e59b505264
X:85282504 CHM T>A	X	85282504	85282504	T	A	CHM	c.107A>T	NM_000390.2	NP_000381.1:p.(His36Leu)	NC_000023.10:g.85282504T>A	VUS	1 lab	1f620502ed
1:235850250 LYST G>A	1	235850250	235850250	G	A	LYST	c.10799C>T	NM_001301365.1	NP_001288294.1:p.(Thr3600Met)	NC_000001.10:g.235850250G>A	VUS	1 lab	1f626755f9
9:135779192 TSC1 G>C	9	135779192	135779192	G	C	TSC1	c.2054C>G	NM_000368.4	NP_000359.1:p.(Ser685Ter)	NC_000009.11:g.135779192G>C	(Likely) pathogenic	1 lab	1f6304126d
17:29592358 NF1 G>T	17	29592358	29592358	G	T	NF1	c.4772+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29592358G>T	(Likely) pathogenic	1 lab	1f6313ebf5
5:122161814 SNX2 C>T	5	122161814	122161814	C	T	SNX2	c.931C>T	NM_001278199.1	NP_001265128.1:p.(Arg311Cys)	NC_000005.9:g.122161814C>T	VUS	1 lab	1f63434418
7:124483025 POT1 G>A	7	124483025	124483025	G	A	POT1	c.1007-8C>T	NM_015450.2	NP_056265.2:p.?	NC_000007.13:g.124483025G>A	(Likely) benign	1 lab	1f63feda7b
10:116046259 VWA2 G>A	10	116046259	116046259	G	A	VWA2	c.1559G>A	NM_001272046.2	NP_001258975.1:p.(Arg520Gln)	NC_000010.10:g.116046259G>A	(Likely) benign	1 lab	1f6503e09a
9:2639971 VLDLR A>G	9	2639971	2639971	A	G	VLDLR	c.315A>G	NM_003383.4	NP_003374.3:p.(Pro105=)	NC_000009.11:g.2639971A>G	(Likely) benign	1 lab	1f65b1cfc4
22:50656456 TUBGCP6 G>C	22	50656456	50656456	G	C	TUBGCP6	c.5259C>G	NM_020461.3	NP_065194.2:p.(Ser1753=)	NC_000022.10:g.50656456G>C	(Likely) benign	1 lab	1f673a2464
14:102906858 TECPR2 C>T	14	102906858	102906858	C	T	TECPR2	c.2664C>T	NM_014844.4	NP_055659.2:p.(Tyr888=)	NC_000014.8:g.102906858C>T	(Likely) benign	1 lab	1f68e77a27
X:153282036 IRAK1 C>G	X	153282036	153282036	C	G	IRAK1	c.1088G>C	NM_001569.3	NP_001560.2:p.(Arg363Pro)	NC_000023.10:g.153282036C>G	VUS	1 lab	1f6a82671e
X:152988604 BCAP31 A>G	X	152988604	152988604	A	G	BCAP31	c.293+4T>C	NM_001139457.2	NP_001132929.1:p.?	NC_000023.10:g.152988604A>G	(Likely) benign	1 lab	1f6a9ff25f
5:140595427 PCDHB13 C>T	5	140595427	140595427	C	T	PCDHB13	c.1732C>T	NM_018933.3	NP_061756.1:p.(Arg578Trp)	NC_000005.9:g.140595427C>T	VUS	1 lab	1f6b431448
6:158565357 SERAC1 G>A	6	158565357	158565357	G	A	SERAC1	c.583C>T	NM_032861.3	NP_116250.3:p.(Pro195Ser)	NC_000006.11:g.158565357G>A	VUS	1 lab	1f6d02bf2d
14:21771577 RPGRIP1 C>T	14	21771577	21771577	C	T	RPGRIP1	c.675C>T	NM_020366.3	NP_065099.3:p.(His225=)	NC_000014.8:g.21771577C>T	(Likely) benign	1 lab	1f6d682941
20:60713332 PSMA7 A>G	20	60713332	60713332	A	G	PSMA7	c.486T>C	NM_002792.4	NP_002783.1:p.(Gly162=)	NC_000020.10:g.60713332A>G	(Likely) benign	1 lab	e59b8786d8
1:57425792 C8B G>C	1	57425792	57425792	G	C	C8B	c.150C>G	NM_000066.2	NP_000057.1:p.(Ser50Arg)	NC_000001.10:g.57425792G>C	(Likely) benign	1 lab	1f6de8f591
20:50701604 ZFP64 C>T	20	50701604	50701604	C	T	ZFP64	c.1430G>A	NM_199427.2	NP_955459.2:p.(Arg477Gln)	NC_000020.10:g.50701604C>T	(Likely) benign	1 lab	1f6e69e4ba
16:2134516 TSC2 G>A	16	2134516	2134516	G	A	TSC2	c.4224G>A	NM_001114382.2	NP_001107854.1:p.(Ser1408=)	NC_000016.9:g.2134516G>A	(Likely) benign	1 lab	1f6fe62c36
15:48713882 FBN1 A>G	15	48713882	48713882	A	G	FBN1	c.7572T>C	NM_000138.4	NP_000129.3:p.(Asp2524=)	NC_000015.9:g.48713882A>G	(Likely) benign	1 lab	1f70271a9b
X:12939759 TLR8 T>C	X	12939759	12939759	T	C	TLR8	c.2654T>C	NM_016610.3	NP_057694.2:p.(Val885Ala)	NC_000023.10:g.12939759T>C	VUS	1 lab	1f70ba077b
1:168262525 TBX19 G>GTT	1	168262525	168262527	G	GTT	TBX19	c.603+10_603+11insTT	NM_005149.2	NP_005140.1:p.?	NC_000001.10:g.168262526_168262527insTT	(Likely) benign	1 lab	1f719422d3
5:78376583 BHMT2 G>T	5	78376583	78376583	G	T	BHMT2	c.332G>T	NM_017614.4	NP_060084.2:p.(Gly111Val)	NC_000005.9:g.78376583G>T	VUS	1 lab	1f71bb462a
3:129294392 PLXND1 C>T	3	129294392	129294392	C	T	PLXND1	c.2450G>A	NM_015103.2	NP_055918.2:p.(Arg817Gln)	NC_000003.11:g.129294392C>T	(Likely) benign	1 lab	1f71f3212c
17:79503896 FSCN2 C>T	17	79503896	79503896	C	T	FSCN2	c.1346-5C>T	NM_001077182.2	NP_001070650.1:p.?	NC_000017.10:g.79503896C>T	(Likely) benign	1 lab	1f7381d5e2
16:9857925 GRIN2A C>G	16	9857925	9857925	C	G	GRIN2A	c.3476G>C	NM_001134407.3	NP_001127879.1:p.(Arg1159Pro)	NC_000016.9:g.9857925C>G	VUS	1 lab	1f743000c2
16:24578521 RBBP6 A>G	16	24578521	24578521	A	G	RBBP6	c.1647A>G	NM_006910.5	NP_008841.2:p.(Ser549=)	NC_000016.9:g.24578521A>G	(Likely) benign	1 lab	1f75c6fc45
X:102193018 RAB40AL A>G	X	102193018	102193018	A	G	RAB40AL	c.772A>G	NM_001031834.1	NP_001027004.1:p.(Lys258Glu)	NC_000023.10:g.102193018A>G	VUS	1 lab	e59c9d0153
X:135494469 ADGRG4 G>A	X	135494469	135494469	G	A	ADGRG4	c.8981G>A	NM_153834.3	NP_722576.3:p.(Arg2994Gln)	NC_000023.10:g.135494469G>A	VUS	1 lab	1f78e64502
15:89801971 FANCI A>G	15	89801971	89801971	A	G	FANCI	c.121A>G	NM_001113378.1	NP_001106849.1:p.(Lys41Glu)	NC_000015.9:g.89801971A>G	VUS	1 lab	1f7955f641
16:56540114 BBS2 A>C	16	56540114	56540114	A	C	BBS2	c.635T>G	NM_031885.3	NP_114091.3:p.(Met212Arg)	NC_000016.9:g.56540114A>C	VUS	1 lab	1f7962d06f
11:2466615 KCNQ1 C>G	11	2466615	2466615	C	G	KCNQ1	c.287C>G	NM_000218.2	NP_000209.2:p.(Thr96Arg)	NC_000011.9:g.2466615C>G	VUS	1 lab	1f799f3529
17:7788375 CHD3 C>T	17	7788375	7788375	C	T	CHD3	c.251C>T	NM_001005271.2	NP_001005271.2:p.(Pro84Leu)	NC_000017.10:g.7788375C>T	(Likely) benign	1 lab	1f79d57aa1
11:117870137 IL10RA G>A	11	117870137	117870137	G	A	IL10RA	c.1518G>A	NM_001558.3	NP_001549.2:p.(Leu506=)	NC_000011.9:g.117870137G>A	(Likely) benign	1 lab	1f7d2500a6
10:89717660 PTEN T>A	10	89717660	89717660	T	A	PTEN	c.685T>A	NM_000314.4	NP_000305.3:p.(Ser229Thr)	NC_000010.10:g.89717660T>A	VUS	1 lab	1f7db07782
11:88070803 CTSC A>G	11	88070803	88070803	A	G	CTSC	c.38T>C	NM_148170.4	NP_680475.1:p.(Leu13Pro)	NC_000011.9:g.88070803A>G	VUS	1 lab	1f83264573
17:8700777 MFSD6L C>G	17	8700777	8700777	C	G	MFSD6L	c.1662G>C	NM_152599.3	NP_689812.3:p.(Ser554=)	NC_000017.10:g.8700777C>G	(Likely) benign	1 lab	1f844ccba0
X:106846418 FRMPD3 C>T	X	106846418	106846418	C	T	FRMPD3	c.5248C>T	NM_032428.2	NP_115804.1:p.(Gln1750Ter)	NC_000023.10:g.106846418C>T	VUS	1 lab	1f86985709
5:89925316 ADGRV1 A>G	5	89925316	89925316	A	G	ADGRV1	c.1799A>G	NM_032119.4	NP_115495.3:p.(Asn600Ser)	NC_000005.9:g.89925316A>G	VUS	1 lab	1f87fa6eec
1:22168069 HSPG2 G>A	1	22168069	22168069	G	A	HSPG2	c.9294C>T	NM_001291860.1	NP_001278789.1:p.(Tyr3098=)	NC_000001.10:g.22168069G>A	(Likely) benign	1 lab	1f889b69b8
10:69959097 MYPN G>T	10	69959097	69959097	G	T	MYPN	c.3286-28G>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69959097G>T	(Likely) benign	1 lab	1f8a186bfe
1:63284692 ATG4C T>G	1	63284692	63284692	T	G	ATG4C	c.411T>G	NM_032852.4	NP_116241.2:p.(Asp137Glu)	NC_000001.10:g.63284692T>G	(Likely) benign	1 lab	1f8a55eec4
14:105417866 AHNAK2 C>T	14	105417866	105417866	C	T	AHNAK2	c.3922G>A	NM_138420.3	NP_612429.2:p.(Ala1308Thr)	NC_000014.8:g.105417866C>T	(Likely) benign	1 lab	1f8b43c5ef
12:32949236 PKP2 C>A	12	32949236	32949236	C	A	PKP2	c.2300-4G>T	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949236C>A	(Likely) benign	1 lab	1f8db127cf
4:71346706 MUC7 C>G	4	71346706	71346706	C	G	MUC7	c.245C>G	NM_001145006.1	NP_001138478.1:p.(Pro82Arg)	NC_000004.11:g.71346706C>G	(Likely) benign	1 lab	1f8e906cd2
13:49054205 RB1 T>A	13	49054205	49054205	T	A	RB1	c.2785T>A	NM_000321.2	NP_000312.2:p.(Ter929ArgextTer21)	NC_000013.10:g.49054205T>A	VUS	1 lab	1f9042d96b
9:104187798 ALDOB G>A	9	104187798	104187798	G	A	ALDOB	c.736C>T	NM_000035.4	NP_000026.2:p.(Pro246Ser)	NC_000009.11:g.104187798G>A	VUS	1 lab	1f9049587a
14:21793460 RPGRIP1 T>C	14	21793460	21793460	T	C	RPGRIP1	c.2285T>C	NM_020366.3	NP_065099.3:p.(Leu762Pro)	NC_000014.8:g.21793460T>C	VUS	1 lab	1f9207f999
8:133595935 DNAAF11 T>C	8	133595935	133595935	T	C	DNAAF11	c.866+6A>G	NM_001321965.1	NP_001308894.1:p.?	NC_000008.10:g.133595935T>C	(Likely) benign	1 lab	1f939bff0d
15:67073381 SMAD6 C>T	15	67073381	67073381	C	T	SMAD6	c.999C>T	NM_005585.4	NP_005576.3:p.(Ser333=)	NC_000015.9:g.67073381C>T	(Likely) benign	1 lab	1f947fb78c
22:50523237 MLC1 G>A	22	50523237	50523237	G	A	MLC1	c.95C>T	NM_015166.3	NP_055981.1:p.(Ala32Val)	NC_000022.10:g.50523237G>A	(Likely) benign	1 lab	1f9546e017
15:28519499 HERC2 C>T	15	28519499	28519499	C	T	HERC2	c.738G>A	NM_004667.5	NP_004658.3:p.(Val246=)	NC_000015.9:g.28519499C>T	(Likely) benign	1 lab	1f95d1b91a
6:33144827 COL11A2 A>C	6	33144827	33144827	A	C	COL11A2	c.2017-5T>G	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33144827A>C	(Likely) benign	1 lab	1f970dc519
19:53911485 ZNF765 G>T	19	53911485	53911485	G	T	ZNF765	c.677G>T	NM_001040185.3	NP_001035275.1:p.(Cys226Phe)	NC_000019.9:g.53911485G>T	(Likely) benign	1 lab	1f97efa4fd
X:99662266 PCDH19 T>C	X	99662266	99662266	T	C	PCDH19	c.1330A>G	NM_001184880.2	NP_001171809.1:p.(Thr444Ala)	NC_000023.10:g.99662266T>C	VUS	1 lab	e5a2cec2fc
6:161128723 PLG G>A	6	161128723	161128723	G	A	PLG	c.186-9G>A	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161128723G>A	(Likely) benign	1 lab	1f99951cea
19:13395881 CACNA1A C>T	19	13395881	13395881	C	T	CACNA1A	c.3704+1G>A	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13395881C>T	(Likely) pathogenic	1 lab	1f9b0a60b3
X:13778631 OFD1 C>T	X	13778631	13778631	C	T	OFD1	c.2052C>T	NM_003611.2	NP_003602.1:p.(Ser684=)	NC_000023.10:g.13778631C>T	(Likely) benign	1 lab	1f9b7696a7
1:902155 PLEKHN1 A>G	1	902155	902155	A	G	PLEKHN1	c.155A>G	NM_032129.3	NP_115505.2:p.(Asn52Ser)	NC_000001.10:g.902155A>G	VUS	1 lab	4ed0166624
4:183721222 TENM3 C>T	4	183721222	183721222	C	T	TENM3	c.7818C>T	NM_001080477.3	NP_001073946.1:p.(His2606=)	NC_000004.11:g.183721222C>T	(Likely) benign	1 lab	1f9c53e65e
16:2138324 TSC2 C>A	16	2138324	2138324	C	A	TSC2	c.5188C>A	NM_001114382.2	NP_001107854.1:p.(Arg1730=)	NC_000016.9:g.2138324C>A	(Likely) benign	1 lab	1f9d2993b7
2:43798982 THADA C>G	2	43798982	43798982	C	G	THADA	c.1928G>C	NM_001083953.1	NP_001077422.1:p.(Gly643Ala)	NC_000002.11:g.43798982C>G	VUS	1 lab	1f9e5a50ed
14:75568393 NEK9 C>A	14	75568393	75568393	C	A	NEK9	c.1843G>T	NM_001329237.1	NP_001316166.1:p.(Ala615Ser)	NC_000014.8:g.75568393C>A	(Likely) benign	1 lab	1f9e81fc1b
X:10437869 MID1 G>C	X	10437869	10437869	G	C	MID1	c.1153C>G	NM_001347733.1	NP_001334662.1:p.(Pro385Ala)	NC_000023.10:g.10437869G>C	VUS	1 lab	1f9eed3481
3:27763405 EOMES C>CGCG	3	27763405	27763428	C	CGCG	EOMES	c.378_380dup	NM_005442.3	NP_005433.2:p.(Ala130dup)	NC_000003.11:g.27763426_27763428dup	VUS	1 lab	1f9f13074e
11:82877301 PCF11 A>G	11	82877301	82877301	A	G	PCF11	c.1362A>G	NM_001346413.1	NP_001333342.1:p.(Val454=)	NC_000011.9:g.82877301A>G	(Likely) benign	1 lab	1f9f65e6a9
X:5821389 NLGN4X A>G	X	5821389	5821389	A	G	NLGN4X	c.1330T>C	NM_001282145.1	NP_001269074.1:p.(Phe444Leu)	NC_000023.10:g.5821389A>G	VUS	1 lab	1fa030e9bd
13:28008323 GTF3A G>A	13	28008323	28008323	G	A	GTF3A	c.610G>A	NM_002097.3	NP_002088.2:p.(Glu204Lys)	NC_000013.10:g.28008323G>A	VUS	1 lab	1fa0985527
7:117180285 CFTR G>A	7	117180285	117180285	G	A	CFTR	c.1001G>A	NM_000492.4	NP_000483.3:p.(Arg334Gln)	NC_000007.13:g.117180285G>A	(Likely) pathogenic	1 lab	e5a45f0365
17:4439682 SPNS2 C>T	17	4439682	4439682	C	T	SPNS2	c.1568C>T	NM_001124758.3	NP_001118230.1:p.(Ala523Val)	NC_000017.10:g.4439682C>T	VUS	1 lab	1fa5f438d0
2:170338843 BBS5 G>A	2	170338843	170338843	G	A	BBS5	c.142G>A	NM_152384.2	NP_689597.1:p.(Gly48Ser)	NC_000002.11:g.170338843G>A	VUS	1 lab	1fa8470aa2
15:23891865 MAGEL2 G>T	15	23891865	23891865	G	T	MAGEL2	c.1025C>A	NM_019066.4	NP_061939.3:p.(Ser342Tyr)	NC_000015.9:g.23891865G>T	VUS	1 lab	1fa8a12d5e
11:47353733 MYBPC3 ACT>A	11	47353733	47353736	ACT	A	MYBPC3	c.3702_3703del	NM_000256.3	NP_000247.2:p.(Leu1236AspfsTer5)	NC_000011.9:g.47353735_47353736del	(Likely) pathogenic	1 lab	1fa96a6a0f
5:88119604 MEF2C A>G	5	88119604	88119604	A	G	MEF2C	c.2T>C	NM_002397.4	NP_002388.2:p.(Met1?)	NC_000005.9:g.88119604A>G	(Likely) pathogenic	1 lab	1fac0b8f5a
17:78041415 CCDC40 A>G	17	78041415	78041415	A	G	CCDC40	c.1674A>G	NM_001330508.1	NP_001317437.1:p.(Ala558=)	NC_000017.10:g.78041415A>G	(Likely) benign	1 lab	1fad20ca77
3:9970267 IL17RC G>A	3	9970267	9970267	G	A	IL17RC	c.1276G>A	NM_153461.3	NP_703191.1:p.(Val426Ile)	NC_000003.11:g.9970267G>A	(Likely) benign	1 lab	1fb238d95a
3:30842396 GADL1 G>A	3	30842396	30842396	G	A	GADL1	c.1235C>T	NM_207359.2	NP_997242.2:p.(Ala412Val)	NC_000003.11:g.30842396G>A	VUS	1 lab	1fb2762886
9:2161855 SMARCA2 C>G	9	2161855	2161855	C	G	SMARCA2	c.4151C>G	NM_003070.4	NP_003061.3:p.(Thr1384Arg)	NC_000009.11:g.2161855C>G	VUS	1 lab	1fb654de0c
4:126241637 FAT4 T>C	4	126241637	126241637	T	C	FAT4	c.4071T>C	NM_024582.4	NP_078858.4:p.(Thr1357=)	NC_000004.11:g.126241637T>C	(Likely) benign	1 lab	1fb7b7d8ce
5:140078131 HARS2 G>T	5	140078131	140078131	G	T	HARS2	c.1515G>T	NM_012208.3	NP_036340.1:p.(Glu505Asp)	NC_000005.9:g.140078131G>T	(Likely) benign	1 lab	1fb84d7634
15:57526310 TCF12 G>C	15	57526310	57526310	G	C	TCF12	c.1035+5G>C	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57526310G>C	VUS	1 lab	1fba1bb934
1:248756931 OR2T10 G>A	1	248756931	248756931	G	A	OR2T10	c.139C>T	NM_001004693.1	NP_001004693.1:p.(Leu47Phe)	NC_000001.10:g.248756931G>A	VUS	1 lab	1fba1c5168
X:154157623 F8 A>G	X	154157623	154157623	A	G	F8	c.4442T>C	NM_000132.3	NP_000123.1:p.(Leu1481Pro)	NC_000023.10:g.154157623A>G	(Likely) benign	1 lab	1fbb535138
14:91806314 CCDC88C C>T	14	91806314	91806314	C	T	CCDC88C	c.538G>A	NM_001080414.3	NP_001073883.2:p.(Val180Met)	NC_000014.8:g.91806314C>T	(Likely) benign	1 lab	1fbb596494
13:100635007 ZIC2 CCCACCACCACCA>C	13	100635007	100635036	CCCACCACCACCA	C	ZIC2	c.707_718del	NM_007129.5	NP_009060.2:p.(His236_His239del)	NC_000013.10:g.100635025_100635036del	(Likely) benign	1 lab	1fbd67a5c3
16:4513699 NMRAL1 G>A	16	4513699	4513699	G	A	NMRAL1	c.682C>T	NM_020677.5	NP_065728.1:p.(Leu228Phe)	NC_000016.9:g.4513699G>A	VUS	1 lab	1fbe06bb8c
3:186944256 MASP1 C>T	3	186944256	186944256	C	T	MASP1	c.1494G>A	NM_001879.5	NP_001870.3:p.(Pro498=)	NC_000003.11:g.186944256C>T	(Likely) benign	1 lab	1fbe85fb77
X:134421752 ZNF75D T>G	X	134421752	134421752	T	G	ZNF75D	c.850A>C	NM_007131.4	NP_009062.2:p.(Asn284His)	NC_000023.10:g.134421752T>G	(Likely) benign	1 lab	1fbf0f39c4
X:107911743 COL4A5 G>A	X	107911743	107911743	G	A	COL4A5	c.3790+9G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107911743G>A	(Likely) benign	1 lab	1fbf80edc0
6:116441698 COL10A1 C>T	6	116441698	116441698	C	T	COL10A1	c.1581G>A	NM_000493.3	NP_000484.2:p.(Lys527=)	NC_000006.11:g.116441698C>T	(Likely) benign	1 lab	1fc0f05b8d
10:103826035 HPS6 G>T	10	103826035	103826035	G	T	HPS6	c.804G>T	NM_024747.5	NP_079023.2:p.(Leu268=)	NC_000010.10:g.103826035G>T	(Likely) benign	1 lab	1fc189c777
6:71012611 COL9A1 T>C	6	71012611	71012611	T	C	COL9A1	c.14+3A>G	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.71012611T>C	(Likely) benign	1 lab	1fc22d271c
X:26212410 MAGEB6 G>A	X	26212410	26212410	G	A	MAGEB6	c.447G>A	NM_173523.2	NP_775794.2:p.(Gln149=)	NC_000023.10:g.26212410G>A	(Likely) benign	1 lab	1fc4e765cf
18:56202768 ALPK2 C>A	18	56202768	56202768	C	A	ALPK2	c.4651G>T	NM_052947.4	NP_443179.3:p.(Ala1551Ser)	NC_000018.9:g.56202768C>A	(Likely) benign	1 lab	1fc57df0fb
5:140056277 HARS1 C>A	5	140056277	140056277	C	A	HARS1	c.1156G>T	NM_002109.6	NP_002100.2:p.(Val386Leu)	NC_000005.9:g.140056277C>A	VUS	1 lab	1fc6ab784d
22:32293547 DEPDC5 G>A	22	32293547	32293547	G	A	DEPDC5	c.4283G>A	NM_001242896.2	NP_001229825.1:p.(Ser1428Asn)	NC_000022.10:g.32293547G>A	(Likely) benign	1 lab	1fc6d5937b
19:4510644 MISSING C>T	19	4510644	4510644	C	T	MISSING				NC_000019.9:g.4510644C>T	(Likely) benign	1 lab	1fcc08c607
22:18613603 TUBA8 C>T	22	18613603	18613603	C	T	TUBA8	c.1057-7C>T	NM_018943.2	NP_061816.1:p.?	NC_000022.10:g.18613603C>T	(Likely) benign	1 lab	1fcca3c036
1:91405078 ZNF644 T>G	1	91405078	91405078	T	G	ZNF644	c.1833A>C	NM_201269.2	NP_958357.1:p.(Ser611=)	NC_000001.10:g.91405078T>G	(Likely) benign	1 lab	1fcd1e8224
16:2136360 TSC2 G>A	16	2136360	2136360	G	A	TSC2	c.4829G>A	NM_000548.3	NP_000539.2:p.(Trp1610Ter)	NC_000016.9:g.2136360G>A	(Likely) pathogenic	1 lab	1fcd49250b
2:74718273 TTC31 C>T	2	74718273	74718273	C	T	TTC31	c.565C>T	NM_022492.4	NP_071937.4:p.(Arg189Ter)	NC_000002.11:g.74718273C>T	VUS	1 lab	1fcd540606
12:80943435 MISSING G>A	12	80943435	80943435	G	A	MISSING				NC_000012.11:g.80943435G>A	VUS	1 lab	1fcdfa9a60
19:1272016 CIRBP G>A	19	1272016	1272016	G	A	CIRBP	c.468G>A	NM_001300829.2	NP_001287758.1:p.(Ser156=)	NC_000019.9:g.1272016G>A	(Likely) benign	1 lab	1fce0fe1ce
16:23646964 PALB2 A>T	16	23646964	23646964	A	T	PALB2	c.903T>A	NM_024675.3	NP_078951.2:p.(Asp301Glu)	NC_000016.9:g.23646964A>T	(Likely) benign	1 lab	1fcf474a50
18:44140083 LOXHD1 G>A	18	44140083	44140083	G	A	LOXHD1	c.3024C>T	NM_144612.6	NP_653213.6:p.(Val1008=)	NC_000018.9:g.44140083G>A	(Likely) benign	1 lab	1fcf47bfae
15:43892808 STRC T>TAG	15	43892808	43892810	T	TAG	STRC	c.4915_4916dup	NM_153700.2	NP_714544.1:p.(Leu1640TyrfsTer25)	NC_000015.9:g.43892809_43892810dup	(Likely) pathogenic	1 lab	1fcf654da0
10:12129688 DHTKD1 G>A	10	12129688	12129688	G	A	DHTKD1	c.677G>A	NM_018706.6	NP_061176.3:p.(Arg226Lys)	NC_000010.10:g.12129688G>A	VUS	1 lab	1fcf9f4637
14:52907440 TXNDC16 C>T	14	52907440	52907440	C	T	TXNDC16	c.1845G>A	NM_020784.3	NP_065835.2:p.(Pro615=)	NC_000014.8:g.52907440C>T	(Likely) benign	1 lab	1fd0c022ab
19:40321322 DYRK1B G>A	19	40321322	40321322	G	A	DYRK1B	c.165C>T	NM_004714.2	NP_004705.1:p.(Thr55=)	NC_000019.9:g.40321322G>A	(Likely) benign	1 lab	1fd2960c13
13:52515372 ATP7B A>T	13	52515372	52515372	A	T	ATP7B	c.3413-12T>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52515372A>T	VUS	1 lab	e5afa6a758
3:129290568 PLXND1 A>G	3	129290568	129290568	A	G	PLXND1	c.3197T>C	NM_015103.2	NP_055918.2:p.(Met1066Thr)	NC_000003.11:g.129290568A>G	(Likely) benign	1 lab	1fd4e8821e
12:21971128 ABCC9 A>T	12	21971128	21971128	A	T	ABCC9	c.3727T>A	NM_020297.2	NP_064693.2:p.(Ser1243Thr)	NC_000012.11:g.21971128A>T	(Likely) benign	1 lab	1fd5690c81
16:57695619 ADGRG1 C>T	16	57695619	57695619	C	T	ADGRG1	c.1693C>T	NM_005682.6	NP_005673.3:p.(Arg565Trp)	NC_000016.9:g.57695619C>T	(Likely) pathogenic	1 lab	1fd621d5a8
4:39184169 WDR19 A>G	4	39184169	39184169	A	G	WDR19	c.-9A>G	NM_025132.3	NP_079408.3:p.?	NC_000004.11:g.39184169A>G	(Likely) benign	1 lab	1fd66d9218
18:21136259 NPC1 G>A	18	21136259	21136259	G	A	NPC1	c.1274C>T	NM_000271.4	NP_000262.2:p.(Ser425Leu)	NC_000018.9:g.21136259G>A	VUS	1 lab	1fd731c330
6:39893576 MOCS1 C>T	6	39893576	39893576	C	T	MOCS1	c.3G>A	NM_001358534.1	NP_001345463.1:p.(Met1?)	NC_000006.11:g.39893576C>T	VUS	1 lab	1fd776217d
5:147889423 HTR4 A>G	5	147889423	147889423	A	G	HTR4	c.672T>C	NM_000870.6	NP_000861.1:p.(His224=)	NC_000005.9:g.147889423A>G	(Likely) benign	1 lab	1fd8038f15
11:55406218 OR4P4 C>A	11	55406218	55406218	C	A	OR4P4	c.385C>A	NM_001004124.2	NP_001004124.1:p.(His129Asn)	NC_000011.9:g.55406218C>A	(Likely) benign	1 lab	1fd924b5bd
X:54209456 FAM120C C>A	X	54209456	54209456	C	A	FAM120C	c.176G>T	NM_017848.5	NP_060318.4:p.(Gly59Val)	NC_000023.10:g.54209456C>A	VUS	1 lab	1fd9256448
2:200245169 SATB2 T>C	2	200245169	200245169	T	C	SATB2	c.515A>G	NM_015265.4	NP_056080.1:p.(His172Arg)	NC_000002.11:g.200245169T>C	VUS	1 lab	e5b0b8aaa5
16:71988100 PKD1L3 G>T	16	71988100	71988100	G	T	PKD1L3	c.2713C>A	NM_181536.1	NP_853514.1:p.(Arg905=)	NC_000016.9:g.71988100G>T	(Likely) benign	1 lab	1fda37f471
1:116226673 VANGL1 G>A	1	116226673	116226673	G	A	VANGL1	c.1055G>A	NM_138959.2	NP_620409.1:p.(Arg352Gln)	NC_000001.10:g.116226673G>A	VUS	1 lab	1fdc572c09
9:119460860 TRIM32 T>A	9	119460860	119460860	T	A	TRIM32	c.839T>A	NM_012210.3	NP_036342.2:p.(Leu280His)	NC_000009.11:g.119460860T>A	VUS	1 lab	1fdc659002
3:132222104 DNAJC13 G>A	3	132222104	132222104	G	A	DNAJC13	c.4763G>A	NM_015268.4	NP_056083.3:p.(Arg1588His)	NC_000003.11:g.132222104G>A	VUS	1 lab	1fdf1e03ca
12:129467603 GLT1D1 A>C	12	129467603	129467603	A	C	GLT1D1	c.769A>C	NM_144669.3	NP_653270.1:p.(Ile257Leu)	NC_000012.11:g.129467603A>C	(Likely) benign	1 lab	1fe4bf40c1
7:48547540 ABCA13 C>T	7	48547540	48547540	C	T	ABCA13	c.13419C>T	NM_152701.4	NP_689914.3:p.(Ile4473=)	NC_000007.13:g.48547540C>T	(Likely) benign	1 lab	1fe4f2a408
18:32455307 DTNA G>A	18	32455307	32455307	G	A	DTNA	c.1767G>A	NM_001390.4	NP_001381.2:p.(Thr589=)	NC_000018.9:g.32455307G>A	(Likely) benign	1 lab	1fe5f04d41
1:236180498 NID1 C>T	1	236180498	236180498	C	T	NID1	c.2204G>A	NM_002508.2	NP_002499.2:p.(Arg735His)	NC_000001.10:g.236180498C>T	(Likely) benign	1 lab	1fe7a4cb7d
15:28369364 HERC2 T>C	15	28369364	28369364	T	C	HERC2	c.13007A>G	NM_004667.5	NP_004658.3:p.(Asn4336Ser)	NC_000015.9:g.28369364T>C	VUS	1 lab	1fe7f01b89
X:153008490 ABCD1 GC>G	X	153008490	153008491	GC	G	ABCD1	c.1831del	NM_000033.4	NP_000024.2:p.(Gln611ArgfsTer25)	NC_000023.10:g.153008491del	VUS	1 lab	1fea975d91
6:76624687 MYO6 G>A	6	76624687	76624687	G	A	MYO6	c.3816G>A	NM_004999.3	NP_004990.3:p.(Arg1272=)	NC_000006.11:g.76624687G>A	(Likely) benign	1 lab	1feb6bed80
19:17450016 GTPBP3 T>C	19	17450016	17450016	T	C	GTPBP3	c.845T>C	NM_133644.4	NP_598399.2:p.(Val282Ala)	NC_000019.9:g.17450016T>C	(Likely) benign	1 lab	e5b25a7197
6:42942756 PEX6 G>A	6	42942756	42942756	G	A	PEX6	c.903C>T	NM_000287.3	NP_000278.3:p.(Ile301=)	NC_000006.11:g.42942756G>A	(Likely) benign	1 lab	1fee1b4d11
14:23895164 MYH7 C>T	14	23895164	23895164	C	T	MYH7	c.2162+9G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23895164C>T	(Likely) benign	1 lab	1feee59ded
1:150529532 ADAMTSL4 ACT>A	1	150529532	150529536	ACT	A	ADAMTSL4	c.1861+9_1861+10del	NM_019032.6	NP_061905.2:p.?	NC_000001.10:g.150529535_150529536del	(Likely) benign	1 lab	1fefef8ba7
19:49473114 GYS1 T>C	19	49473114	49473114	T	C	GYS1	c.1810-2A>G	NM_002103.5	NP_002094.2:p.?	NC_000019.9:g.49473114T>C	(Likely) pathogenic	1 lab	e5b2909517
10:135371369 SYCE1 T>C	10	135371369	135371369	T	C	SYCE1	c.373A>G	NM_001143763.1	NP_001137235.1:p.(Arg125Gly)	NC_000010.10:g.135371369T>C	VUS	1 lab	1ff23ffc9f
19:39994735 DLL3 C>G	19	39994735	39994735	C	G	DLL3	c.677C>G	NM_016941.3	NP_058637.1:p.(Pro226Arg)	NC_000019.9:g.39994735C>G	(Likely) benign	1 lab	1ff27db5ac
16:17352862 XYLT1 C>G	16	17352862	17352862	C	G	XYLT1	c.896G>C	NM_022166.3	NP_071449.1:p.(Arg299Pro)	NC_000016.9:g.17352862C>G	VUS	1 lab	1ff32c172e
11:118916331 HYOU1 G>A	11	118916331	118916331	G	A	HYOU1	c.2974C>T	NM_006389.5	NP_006380.1:p.(Arg992Trp)	NC_000011.9:g.118916331G>A	VUS	1 lab	1ff3f927bd
16:624622 PIGQ AG>A	16	624622	624625	AG	A	PIGQ	c.551del	NM_004204.5	NP_004195.2:p.(Gly184AlafsTer5)	NC_000016.9:g.624625del	VUS	1 lab	1ff3fbc302
15:30654794 CHRFAM7A C>T	15	30654794	30654794	C	T	CHRFAM7A	c.941G>A	NM_139320.1	NP_647536.1:p.(Gly314Glu)	NC_000015.9:g.30654794C>T	VUS	1 lab	1ff4120599
9:37424907 GRHPR C>T	9	37424907	37424907	C	T	GRHPR	c.149C>T	NM_012203.1	NP_036335.1:p.(Ala50Val)	NC_000009.11:g.37424907C>T	VUS	1 lab	1ff559a9ce
11:20622794 SLC6A5 C>A	11	20622794	20622794	C	A	SLC6A5	c.123C>A	NM_004211.4	NP_004202.3:p.(Pro41=)	NC_000011.9:g.20622794C>A	(Likely) benign	1 lab	1ff81aa099
11:6648314 DCHS1 G>A	11	6648314	6648314	G	A	DCHS1				NC_000011.9:g.6648314G>A	(Likely) benign	1 lab	1ff9144113
8:126085538 WASHC5 C>G	8	126085538	126085538	C	G	WASHC5	c.1007G>C	NM_014846.4	NP_055661.3:p.(Arg336Thr)	NC_000008.10:g.126085538C>G	VUS	1 lab	e5bacec0ad
X:129283531 AIFM1 T>C	X	129283531	129283531	T	C	AIFM1	c.262A>G	NM_001130847.3	NP_001124319.1:p.(Met88Val)	NC_000023.10:g.129283531T>C	(Likely) benign	1 lab	1ffbcd7a71
X:129147549 BCORL1 G>A	X	129147549	129147549	G	A	BCORL1	c.801G>A	NM_001184772.2	NP_001171701.1:p.(Thr267=)	NC_000023.10:g.129147549G>A	(Likely) benign	1 lab	1ffc26ac02
14:24618800 RNF31 G>T	14	24618800	24618800	G	T	RNF31	c.809+8G>T	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24618800G>T	(Likely) benign	1 lab	1ffc9e48e0
18:55218585 FECH T>A	18	55218585	55218585	T	A	FECH				NC_000018.9:g.55218585T>A	(Likely) pathogenic	1 lab	1ffd70cc9d
2:103001424 IL18R1 C>T	2	103001424	103001424	C	T	IL18R1	c.775C>T	NM_003855.3	NP_003846.1:p.(Pro259Ser)	NC_000002.11:g.103001424C>T	(Likely) benign	1 lab	1ffdc27381
2:219884284 CFAP65 G>A	2	219884284	219884284	G	A	CFAP65	c.3417C>T	NM_194302.3	NP_919278.2:p.(Tyr1139=)	NC_000002.11:g.219884284G>A	(Likely) benign	1 lab	1ffebfa9b8
1:21585183 ECE1 C>G	1	21585183	21585183	C	G	ECE1	c.726+3G>C	NM_001113347.1	NP_001106818.1:p.?	NC_000001.10:g.21585183C>G	VUS	1 lab	20025af71b
22:32162655 DEPDC5 G>T	22	32162655	32162655	G	T	DEPDC5	c.363+1G>T	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32162655G>T	VUS	1 lab	2002af61c0
15:89864109 POLG C>G	15	89864109	89864109	C	G	POLG	c.2869G>C	NM_002693.2	NP_002684.1:p.(Ala957Pro)	NC_000015.9:g.89864109C>G	(Likely) pathogenic	1 lab	2005b69b39
7:4820890 AP5Z1 C>T	7	4820890	4820890	C	T	AP5Z1	c.126C>T	NM_014855.3	NP_055670.1:p.(Leu42=)	NC_000007.13:g.4820890C>T	(Likely) benign	1 lab	2006188b8c
9:2717932 KCNV2 G>A	9	2717932	2717932	G	A	KCNV2	c.193G>A	NM_133497.3	NP_598004.1:p.(Asp65Asn)	NC_000009.11:g.2717932G>A	VUS	1 lab	20077e4176
17:73590946 MYO15B T>TC	17	73590946	73590949	T	TC	MYO15B	c.3079dup	NM_001309242.1	NP_001296171.1:p.(Arg1027ProfsTer35)	NC_000017.10:g.73590949dup	VUS	1 lab	20089decb5
2:219883890 CFAP65 A>T	2	219883890	219883890	A	T	CFAP65	c.3485T>A	NM_194302.3	NP_919278.2:p.(Ile1162Asn)	NC_000002.11:g.219883890A>T	VUS	1 lab	200992ae14
7:43830865 BLVRA T>C	7	43830865	43830865	T	C	BLVRA	c.152T>C	NM_001253823.1	NP_001240752.1:p.(Ile51Thr)	NC_000007.13:g.43830865T>C	(Likely) benign	1 lab	20099e2282
3:4735309 ITPR1 G>A	3	4735309	4735309	G	A	ITPR1	c.4120G>A	NM_001168272.1	NP_001161744.1:p.(Glu1374Lys)	NC_000003.11:g.4735309G>A	(Likely) benign	1 lab	200be13de3
X:54956743 TRO G>A	X	54956743	54956743	G	A	TRO	c.3586G>A	NM_001039705.2	NP_001034794.1:p.(Gly1196Ser)	NC_000023.10:g.54956743G>A	(Likely) benign	1 lab	200c85ded6
19:55331299 KIR3DL1 G>A	19	55331299	55331299	G	A	KIR3DL1				NC_000019.9:g.55331299G>A	(Likely) benign	1 lab	200e362f17
17:18045497 MYO15A T>G	17	18045497	18045497	T	G	MYO15A	c.5754T>G	NM_016239.3	NP_057323.3:p.(Ile1918Met)	NC_000017.10:g.18045497T>G	VUS	1 lab	200e642055
12:117715856 NOS1 G>T	12	117715856	117715856	G	T	NOS1	c.1572C>A	NM_001204218.1	NP_001191147.1:p.(Val524=)	NC_000012.11:g.117715856G>T	(Likely) benign	1 lab	200fa5ffe7
19:11943225 ZNF440 C>T	19	11943225	11943225	C	T	ZNF440	c.1234C>T	NM_152357.2	NP_689570.2:p.(Arg412Ter)	NC_000019.9:g.11943225C>T	(Likely) benign	1 lab	20122a8f66
9:133884965 LAMC3 C>G	9	133884965	133884965	C	G	LAMC3	c.364C>G	NM_006059.3	NP_006050.3:p.(Leu122Val)	NC_000009.11:g.133884965C>G	VUS	1 lab	20128263f4
22:41923953 ACO2 C>T	22	41923953	41923953	C	T	ACO2	c.2135C>T	NM_001098.2	NP_001089.1:p.(Pro712Leu)	NC_000022.10:g.41923953C>T	(Likely) pathogenic	1 lab	201378f4a2
1:155448878 ASH1L G>A	1	155448878	155448878	G	A	ASH1L	c.3783C>T	NM_018489.3	NP_060959.2:p.(Ser1261=)	NC_000001.10:g.155448878G>A	(Likely) benign	1 lab	2018fe3daf
6:70411361 LMBRD1 TC>T	6	70411361	70411362	TC	T	LMBRD1	c.1056del	NM_018368.4	NP_060838.3:p.(Asn353IlefsTer18)	NC_000006.11:g.70411362del	(Likely) pathogenic	1 lab	201a2f2dab
4:94411877 GRID2 C>T	4	94411877	94411877	C	T	GRID2	c.1946C>T	NM_001510.3	NP_001501.2:p.(Thr649Met)	NC_000004.11:g.94411877C>T	VUS	1 lab	201a727c2e
11:67379866 NDUFV1 G>A	11	67379866	67379866	G	A	NDUFV1	c.1332G>A	NM_007103.3	NP_009034.2:p.(Pro444=)	NC_000011.9:g.67379866G>A	(Likely) benign	1 lab	201abda9e6
12:65514884 WIF1 G>A	12	65514884	65514884	G	A	WIF1	c.88C>T	NM_007191.5	NP_009122.2:p.(Pro30Ser)	NC_000012.11:g.65514884G>A	(Likely) benign	1 lab	201acf0bd7
X:119760915 C1GALT1C1 A>C	X	119760915	119760915	A	C	C1GALT1C1	c.107T>G	NM_152692.4	NP_689905.1:p.(Met36Arg)	NC_000023.10:g.119760915A>C	(Likely) benign	1 lab	201b577be6
5:88119604 MEF2C A>T	5	88119604	88119604	A	T	MEF2C	c.2T>A	NM_002397.4	NP_002388.2:p.(Met1?)	NC_000005.9:g.88119604A>T	(Likely) pathogenic	1 lab	2021586689
1:216172362 USH2A C>T	1	216172362	216172362	C	T	USH2A	c.6524G>A	NM_206933.2	NP_996816.2:p.(Arg2175His)	NC_000001.10:g.216172362C>T	(Likely) benign	1 lab	20231127c5
2:179319183 PJVK G>A	2	179319183	179319183	G	A	PJVK	c.336G>A	NM_001042702.4	NP_001036167.1:p.(Val112=)	NC_000002.11:g.179319183G>A	(Likely) benign	1 lab	20251f96e0
2:166615336 GALNT3 T>C	2	166615336	166615336	T	C	GALNT3	c.1112A>G	NM_004482.3	NP_004473.2:p.(Lys371Arg)	NC_000002.11:g.166615336T>C	(Likely) benign	1 lab	2025a2f748
22:31008881 TCN2 C>T	22	31008881	31008881	C	T	TCN2	c.279C>T	NM_001184726.1	NP_001171655.1:p.(Asp93=)	NC_000022.10:g.31008881C>T	(Likely) benign	1 lab	20266e8392
9:108370120 FKTN C>T	9	108370120	108370120	C	T	FKTN	c.668C>T	NM_006731.2	NP_006722.2:p.(Thr223Ile)	NC_000009.11:g.108370120C>T	(Likely) benign	1 lab	2026ffbbc8
5:68715400 MARVELD2 C>T	5	68715400	68715400	C	T	MARVELD2	c.188C>T	NM_001038603.2	NP_001033692.2:p.(Ser63Leu)	NC_000005.9:g.68715400C>T	VUS	1 lab	2028624256
1:172635031 FASLG C>T	1	172635031	172635031	C	T	FASLG	c.721C>T	NM_000639.3	NP_000630.1:p.(Arg241Cys)	NC_000001.10:g.172635031C>T	VUS	1 lab	e5c172d16b
19:55756767 PPP6R1 C>T	19	55756767	55756767	C	T	PPP6R1	c.418G>A	NM_014931.4	NP_055746.3:p.(Val140Met)	NC_000019.9:g.55756767C>T	VUS	1 lab	20294c932e
4:103514741 NFKB1 T>C	4	103514741	103514741	T	C	NFKB1	c.1210+16T>C	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103514741T>C	(Likely) benign	1 lab	e5c7b67b68
16:57965725 CNGB1 C>T	16	57965725	57965725	C	T	CNGB1	c.1430G>A	NM_001297.4	NP_001288.3:p.(Cys477Tyr)	NC_000016.9:g.57965725C>T	(Likely) benign	1 lab	2029dc3134
15:33905387 RYR3 G>A	15	33905387	33905387	G	A	RYR3	c.2168G>A	NM_001036.4	NP_001027.3:p.(Arg723Gln)	NC_000015.9:g.33905387G>A	VUS	1 lab	202b9f6fd5
9:21970989 CDKN2A A>T	9	21970989	21970989	A	T	CDKN2A	c.369T>A	NM_001195132.1	NP_001182061.1:p.(His123Gln)	NC_000009.11:g.21970989A>T	VUS	1 lab	202ca7dbad
17:64784982 PRKCA G>A	17	64784982	64784982	G	A	PRKCA	c.1739G>A	NM_002737.2	NP_002728.1:p.(Arg580Gln)	NC_000017.10:g.64784982G>A	VUS	1 lab	202d7bd004
22:26422447 MYO18B G>T	22	26422447	26422447	G	T	MYO18B	c.6510G>T	NM_001318245.1	NP_001305174.1:p.(Gln2170His)	NC_000022.10:g.26422447G>T	(Likely) benign	1 lab	202e24c1ee
22:36697619 MYH9 C>T	22	36697619	36697619	C	T	MYH9	c.2592G>A	NM_002473.5	NP_002464.1:p.(Ala864=)	NC_000022.10:g.36697619C>T	(Likely) benign	1 lab	203055f8be
5:140867006 PCDHGC4 T>A	5	140867006	140867006	T	A	PCDHGC4	c.2266T>A	NM_018928.2	NP_061751.1:p.(Ser756Thr)	NC_000005.9:g.140867006T>A	VUS	1 lab	20305b435b
15:63966967 HERC1 T>C	15	63966967	63966967	T	C	HERC1	c.7420A>G	NM_003922.3	NP_003913.3:p.(Ser2474Gly)	NC_000015.9:g.63966967T>C	VUS	1 lab	20306a826c
16:76528953 CNTNAP4 C>T	16	76528953	76528953	C	T	CNTNAP4	c.1963C>T	NM_001322189.1	NP_001309118.1:p.(Arg655Trp)	NC_000016.9:g.76528953C>T	VUS	1 lab	203119e496
6:159654670 FNDC1 C>T	6	159654670	159654670	C	T	FNDC1	c.3126C>T	NM_032532.3	NP_115921.2:p.(Arg1042=)	NC_000006.11:g.159654670C>T	(Likely) benign	1 lab	203413c734
X:153137714 L1CAM G>A	X	153137714	153137714	G	A	L1CAM	c.293C>T	NM_000425.4	NP_000416.1:p.(Thr98Met)	NC_000023.10:g.153137714G>A	VUS	1 lab	2035e04f8f
16:69660401 NFAT5 G>C	16	69660401	69660401	G	C	NFAT5	c.-122G>C	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69660401G>C	VUS	1 lab	e5c9cc154d
12:40875485 MUC19 A>G	12	40875485	40875485	A	G	MUC19	c.8731A>G	NM_173600.2	NP_775871.2:p.(Ser2911Gly)	NC_000012.11:g.40875485A>G	VUS	1 lab	203bf0d338
X:102192344 RAB40AL G>C	X	102192344	102192344	G	C	RAB40AL	c.98G>C	NM_001031834.1	NP_001027004.1:p.(Ser33Thr)	NC_000023.10:g.102192344G>C	(Likely) pathogenic	1 lab	203c818cce
17:63526193 AXIN2 C>T	17	63526193	63526193	C	T	AXIN2	c.2433G>A	NM_004655.3	NP_004646.3:p.(Glu811=)	NC_000017.10:g.63526193C>T	(Likely) benign	1 lab	203cb084cb
14:23588237 CEBPE C>T	14	23588237	23588237	C	T	CEBPE				NC_000014.8:g.23588237C>T	VUS	1 lab	203d131227
1:186275485 PRG4 C>T	1	186275485	186275485	C	T	PRG4	c.634C>T	NM_005807.4	NP_005798.3:p.(Pro212Ser)	NC_000001.10:g.186275485C>T	(Likely) benign	1 lab	203dc5c33e
X:85906136 DACH2 C>A	X	85906136	85906136	C	A	DACH2	c.699C>A	NM_001139514.1	NP_001132986.1:p.(Thr233=)	NC_000023.10:g.85906136C>A	(Likely) benign	1 lab	203e7cc302
7:100187407 FBXO24 G>A	7	100187407	100187407	G	A	FBXO24	c.144G>A	NM_012172.4	NP_036304.2:p.(Glu48=)	NC_000007.13:g.100187407G>A	(Likely) benign	1 lab	203f545b65
X:129203355 ELF4 C>T	X	129203355	129203355	C	T	ELF4	c.1107G>A	NM_001421.3	NP_001412.1:p.(Ser369=)	NC_000023.10:g.129203355C>T	(Likely) benign	1 lab	203f8682ff
11:1269566 MUC5B T>G	11	1269566	1269566	T	G	MUC5B	c.11456T>G	NM_002458.2	NP_002449.2:p.(Met3819Arg)	NC_000011.9:g.1269566T>G	VUS	1 lab	205d971a14
X:21534742 CNKSR2 C>A	X	21534742	21534742	C	A	CNKSR2	c.950C>A	NM_014927.4	NP_055742.2:p.(Ala317Asp)	NC_000023.10:g.21534742C>A	VUS	1 lab	2040faa6b7
6:157511162 ARID1B C>G	6	157511162	157511162	C	G	ARID1B	c.3690-10C>G	NM_020732.3	NP_065783.3:p.?	NC_000006.11:g.157511162C>G	(Likely) benign	1 lab	2041cc5433
2:179397655 TTN C>T	2	179397655	179397655	C	T	TTN	c.103687G>A	NM_001267550.1	NP_001254479.1:p.(Val34563Met)	NC_000002.11:g.179397655C>T	VUS	1 lab	20420a4b35
4:88537547 DSPP GACAGCAGCA>G	4	88537547	88537563	GACAGCAGCA	G	DSPP	c.3741_3749del	NM_014208.3	NP_055023.2:p.(Asn1248_Ser1250del)	NC_000004.11:g.88537555_88537563del	(Likely) benign	1 lab	20429abdda
X:30260458 MAGEB4 C>T	X	30260458	30260458	C	T	MAGEB4	c.206C>T	NM_002367.3	NP_002358.1:p.(Thr69Ile)	NC_000023.10:g.30260458C>T	(Likely) benign	1 lab	2043d64826
X:40460132 ATP6AP2 C>T	X	40460132	40460132	C	T	ATP6AP2	c.857C>T	NM_005765.2	NP_005756.2:p.(Ala286Val)	NC_000023.10:g.40460132C>T	(Likely) benign	1 lab	2047c94c63
X:24330282 SUPT20HL2 G>C	X	24330282	24330282	G	C	SUPT20HL2	c.1229C>G	NM_001136233.2	NP_001129705.2:p.(Pro410Arg)	NC_000023.10:g.24330282G>C	VUS	1 lab	204822c6fe
4:151738323 LRBA G>A	4	151738323	151738323	G	A	LRBA	c.5258C>T	NM_006726.4	NP_006717.2:p.(Ser1753Phe)	NC_000004.11:g.151738323G>A	VUS	1 lab	204abc0a38
1:237758932 RYR2 G>A	1	237758932	237758932	G	A	RYR2	c.4571G>A	NM_001035.2	NP_001026.2:p.(Gly1524Asp)	NC_000001.10:g.237758932G>A	VUS	1 lab	205161f068
16:2134693 TSC2 G>GA	16	2134693	2134696	G	GA	TSC2	c.4473dup	NM_000548.3	NP_000539.2:p.(Val1492SerfsTer32)	NC_000016.9:g.2134696dup	(Likely) pathogenic	1 lab	20517ce3e6
7:95751220 SLC25A13 C>T	7	95751220	95751220	C	T	SLC25A13	c.1684G>A	NM_001160210.1	NP_001153682.1:p.(Gly562Arg)	NC_000007.13:g.95751220C>T	VUS	1 lab	2051d9613e
X:153592745 FLNA C>T	X	153592745	153592745	C	T	FLNA	c.2023-5G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592745C>T	(Likely) benign	1 lab	2052045f77
X:49126649 PPP1R3F C>T	X	49126649	49126649	C	T	PPP1R3F	c.317C>T	NM_033215.4	NP_149992.3:p.(Pro106Leu)	NC_000023.10:g.49126649C>T	VUS	1 lab	205308287d
22:36680315 MYH9 C>T	22	36680315	36680315	C	T	MYH9	c.5593-4G>A	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36680315C>T	(Likely) benign	1 lab	e5ce198ccd
14:105406114 AHNAK2 C>T	14	105406114	105406114	C	T	AHNAK2	c.15674G>A	NM_138420.3	NP_612429.2:p.(Gly5225Glu)	NC_000014.8:g.105406114C>T	(Likely) benign	1 lab	205574a9f5
14:94845821 SERPINA1 C>G	14	94845821	94845821	C	G	SERPINA1	c.1045G>C	NM_001127701.1	NP_001121173.1:p.(Ala349Pro)	NC_000014.8:g.94845821C>G	(Likely) benign	1 lab	20571b0a6b
11:2905337 CDKN1C G>A	11	2905337	2905337	G	A	CDKN1C	c.848C>T	NM_000076.2	NP_000067.1:p.(Ala283Val)	NC_000011.9:g.2905337G>A	VUS	1 lab	2058a06e2e
1:47717297 STIL T>C	1	47717297	47717297	T	C	STIL	c.3378A>G	NM_001048166.1	NP_001041631.1:p.(Arg1126=)	NC_000001.10:g.47717297T>C	(Likely) benign	1 lab	20596525f5
16:77401580 ADAMTS18 G>A	16	77401580	77401580	G	A	ADAMTS18	c.16C>T	NM_001326358.1	NP_001313287.1:p.(Arg6Cys)	NC_000016.9:g.77401580G>A	VUS	1 lab	2059bf57bb
8:145738638 RECQL4 C>T	8	145738638	145738638	C	T	RECQL4	c.2426G>A	NM_004260.3	NP_004251.3:p.(Gly809Glu)	NC_000008.10:g.145738638C>T	VUS	1 lab	205cf8104e
12:43821182 ADAMTS20 A>G	12	43821182	43821182	A	G	ADAMTS20	c.4036T>C	NM_025003.4	NP_079279.3:p.(Ser1346Pro)	NC_000012.11:g.43821182A>G	(Likely) benign	1 lab	205fc2aef9
2:112702609 MERTK G>T	2	112702609	112702609	G	T	MERTK	c.555G>T	NM_006343.2	NP_006334.2:p.(Val185=)	NC_000002.11:g.112702609G>T	(Likely) benign	1 lab	205fdfeb5a
16:69681370 NFAT5 A>G	16	69681370	69681370	A	G	NFAT5	c.411A>G	NM_138714.3	NP_619728.2:p.(Lys137=)	NC_000016.9:g.69681370A>G	(Likely) benign	1 lab	205fe99c33
19:13428086 CACNA1A C>T	19	13428086	13428086	C	T	CACNA1A	c.1398G>A	NM_023035.2	NP_075461.2:p.(Ser466=)	NC_000019.9:g.13428086C>T	(Likely) benign	1 lab	2060831521
16:2153595 PKD1 G>A	16	2153595	2153595	G	A	PKD1	c.8463C>T	NM_001009944.2	NP_001009944.2:p.(Asp2821=)	NC_000016.9:g.2153595G>A	(Likely) benign	1 lab	2060e8ea1b
2:179436310 TTN T>C	2	179436310	179436310	T	C	TTN	c.74549A>G	NM_001267550.1	NP_001254479.1:p.(Asp24850Gly)	NC_000002.11:g.179436310T>C	(Likely) benign	1 lab	20618ef03f
7:132660005 CHCHD3 G>A	7	132660005	132660005	G	A	CHCHD3	c.293C>T	NM_001317177.1	NP_001304106.1:p.(Ala98Val)	NC_000007.13:g.132660005G>A	VUS	1 lab	2061cd3333
21:45714301 AIRE G>C	21	45714301	45714301	G	C	AIRE				NC_000021.8:g.45714301G>C	(Likely) benign	1 lab	20622fa812
13:23911651 SACS T>C	13	23911651	23911651	T	C	SACS	c.6364A>G	NM_014363.5	NP_055178.3:p.(Lys2122Glu)	NC_000013.10:g.23911651T>C	VUS	1 lab	2062ac6f4b
10:72434674 ADAMTS14 C>T	10	72434674	72434674	C	T	ADAMTS14	c.445C>T	NM_139155.3	NP_631894.2:p.(Arg149Trp)	NC_000010.10:g.72434674C>T	VUS	1 lab	2062ee1869
9:429816 DOCK8 C>G	9	429816	429816	C	G	DOCK8	c.4588C>G	NM_203447.3	NP_982272.2:p.(Leu1530Val)	NC_000009.11:g.429816C>G	(Likely) benign	1 lab	206596d571
12:49445979 KMT2D G>A	12	49445979	49445979	G	A	KMT2D	c.1487C>T	NM_003482.3	NP_003473.3:p.(Pro496Leu)	NC_000012.11:g.49445979G>A	VUS	1 lab	206694876c
12:40757340 LRRK2 T>A	12	40757340	40757340	T	A	LRRK2	c.7165T>A	NM_198578.3	NP_940980.3:p.(Cys2389Ser)	NC_000012.11:g.40757340T>A	VUS	1 lab	206975f17e
13:25479541 CPAP A>C	13	25479541	25479541	A	C	CPAP	c.2635T>G	NM_018451.4	NP_060921.3:p.(Ser879Ala)	NC_000013.10:g.25479541A>C	(Likely) benign	1 lab	206c1ec4c0
16:1250445 CACNA1H C>A	16	1250445	1250445	C	A	CACNA1H	c.993C>A	NM_021098.2	NP_066921.2:p.(Gly331=)	NC_000016.9:g.1250445C>A	(Likely) benign	1 lab	206f062e2f
3:4752022 ITPR1 C>T	3	4752022	4752022	C	T	ITPR1	c.4829C>T	NM_001099952.2	NP_001093422.2:p.(Ala1610Val)	NC_000003.11:g.4752022C>T	VUS	1 lab	20703edfae
14:105413382 AHNAK2 G>A	14	105413382	105413382	G	A	AHNAK2	c.8406C>T	NM_138420.3	NP_612429.2:p.(Ala2802=)	NC_000014.8:g.105413382G>A	(Likely) benign	1 lab	20714fce25
X:70373383 NLGN3 G>A	X	70373383	70373383	G	A	NLGN3	c.574G>A	NM_181303.1	NP_851820.1:p.(Glu192Lys)	NC_000023.10:g.70373383G>A	(Likely) benign	1 lab	2071c342c9
7:148529851 EZH2 G>GA	7	148529851	148529857	G	GA	EZH2	c.247-10dup	NM_004456.4	NP_004447.2:p.?	NC_000007.13:g.148529857dup	(Likely) benign	1 lab	207246079f
4:121737716 PRDM5 G>T	4	121737716	121737716	G	T	PRDM5	c.757C>A	NM_018699.3	NP_061169.2:p.(Gln253Lys)	NC_000004.11:g.121737716G>T	(Likely) benign	1 lab	2073217bd6
X:129184732 BCORL1 C>T	X	129184732	129184732	C	T	BCORL1	c.4881C>T	NM_001184772.2	NP_001171701.1:p.(Pro1627=)	NC_000023.10:g.129184732C>T	(Likely) benign	1 lab	2073284864
5:127645017 FBN2 T>G	5	127645017	127645017	T	G	FBN2	c.5275A>C	NM_001999.3	NP_001990.2:p.(Lys1759Gln)	NC_000005.9:g.127645017T>G	VUS	1 lab	2074af85b8
8:10466819 RP1L1 C>T	8	10466819	10466819	C	T	RP1L1	c.4789G>A	NM_178857.5	NP_849188.4:p.(Gly1597Arg)	NC_000008.10:g.10466819C>T	(Likely) benign	1 lab	2074f113ac
X:110654165 DCX A>C	X	110654165	110654165	A	C	DCX	c.38T>G	NM_000555.3	NP_000546.2:p.(Met13Arg)	NC_000023.10:g.110654165A>C	(Likely) benign	1 lab	2075f01e21
19:10251777 DNMT1 G>A	19	10251777	10251777	G	A	DNMT1	c.3394+4C>T	NM_001130823.1	NP_001124295.1:p.?	NC_000019.9:g.10251777G>A	(Likely) benign	1 lab	20770600e4
12:2016692 CACNA2D4 G>T	12	2016692	2016692	G	T	CACNA2D4	c.695C>A	NM_172364.4	NP_758952.4:p.(Ala232Asp)	NC_000012.11:g.2016692G>T	(Likely) benign	1 lab	20788e2712
12:2016607 CACNA2D4 T>C	12	2016607	2016607	T	C	CACNA2D4	c.780A>G	NM_172364.4	NP_758952.4:p.(Pro260=)	NC_000012.11:g.2016607T>C	(Likely) benign	1 lab	20792e3ffd
21:32617876 TIAM1 C>T	21	32617876	32617876	C	T	TIAM1	c.1512G>A	NM_003253.3	NP_003244.2:p.(Ala504=)	NC_000021.8:g.32617876C>T	VUS	1 lab	20798a12a8
1:179335709 AXDND1 TAA>T	1	179335709	179335713	TAA	T	AXDND1	c.68_69del	NM_144696.6	NP_653297.3:p.(Lys23SerfsTer13)	NC_000001.10:g.179335712_179335713del	VUS	1 lab	2079f69916
10:94825713 CYP26C1 G>A	10	94825713	94825713	G	A	CYP26C1	c.862G>A	NM_183374.3	NP_899230.2:p.(Glu288Lys)	NC_000010.10:g.94825713G>A	VUS	1 lab	207a213147
10:95360500 RBP4 T>C	10	95360500	95360500	T	C	RBP4	c.172A>G	NM_001323517.1	NP_001310446.1:p.(Asn58Asp)	NC_000010.10:g.95360500T>C	VUS	1 lab	207af2498b
17:79478422 ACTG1 G>A	17	79478422	79478422	G	A	ACTG1	c.594C>T	NM_001199954.2	NP_001186883.1:p.(Tyr198=)	NC_000017.10:g.79478422G>A	(Likely) benign	1 lab	207c042e32
X:154019286 MPP1 T>C	X	154019286	154019286	T	C	MPP1	c.293A>G	NM_001166462.1	NP_001159934.1:p.(His98Arg)	NC_000023.10:g.154019286T>C	(Likely) benign	1 lab	20807dba12
9:133760171 ABL1 C>A	9	133760171	133760171	C	A	ABL1	c.2551C>A	NM_007313.2	NP_009297.2:p.(His851Asn)	NC_000009.11:g.133760171C>A	(Likely) benign	1 lab	20816ee0cd
1:11855225 MTHFR A>T	1	11855225	11855225	A	T	MTHFR	c.1084T>A	NM_001330358.1	NP_001317287.1:p.(Tyr362Asn)	NC_000001.10:g.11855225A>T	(Likely) pathogenic	1 lab	20857a1dbf
7:82390065 PCLO T>C	7	82390065	82390065	T	C	PCLO	c.15178A>G	NM_033026.5	NP_149015.2:p.(Thr5060Ala)	NC_000007.13:g.82390065T>C	VUS	1 lab	208806b29e
6:37619853 MDGA1 T>C	6	37619853	37619853	T	C	MDGA1	c.1246A>G	NM_153487.3	NP_705691.1:p.(Met416Val)	NC_000006.11:g.37619853T>C	(Likely) benign	1 lab	208858a093
22:30051592 NF2 CTG>C	22	30051592	30051595	CTG	C	NF2	c.528_529del	NM_000268.4	NP_000259.1:p.(Tyr177SerfsTer25)	NC_000022.10:g.30051594_30051595del	(Likely) pathogenic	1 lab	2089477c10
10:99991371 R3HCC1L CAT>C	10	99991371	99991373	CAT	C	R3HCC1L	c.1889_1890del	NM_001351015.2	NP_001337944.2:p.(His630ArgfsTer3)	NC_000010.10:g.99991372_99991373del	VUS	1 lab	208aec22db
8:68071351 CSPP1 TTTGA>T	8	68071351	68071358	TTTGA	T	CSPP1	c.2521_2524del	NM_001382391.1	NP_001369320.1:p.(Ile841GlyfsTer7)	NC_000008.10:g.68071355_68071358del	(Likely) pathogenic	1 lab	208b56ffca
9:84608356 SPATA31D1 T>C	9	84608356	84608356	T	C	SPATA31D1	c.2971T>C	NM_001001670.2	NP_001001670.1:p.(Ser991Pro)	NC_000009.11:g.84608356T>C	VUS	1 lab	208bc9866e
18:29111054 DSG2 T>C	18	29111054	29111054	T	C	DSG2	c.1119T>C	NM_001943.3	NP_001934.2:p.(Ile373=)	NC_000018.9:g.29111054T>C	(Likely) benign	1 lab	208ea81a26
22:18613757 TUBA8 C>T	22	18613757	18613757	C	T	TUBA8	c.1204C>T	NM_018943.2	NP_061816.1:p.(Arg402Trp)	NC_000022.10:g.18613757C>T	VUS	1 lab	2094af8992
10:21120392 NEBL G>T	10	21120392	21120392	G	T	NEBL	c.1560+10C>A	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21120392G>T	(Likely) benign	1 lab	2094f4c151
9:27062709 IFT74 C>T	9	27062709	27062709	C	T	IFT74	c.1778C>T	NM_025103.3	NP_079379.2:p.(Ala593Val)	NC_000009.11:g.27062709C>T	VUS	1 lab	20967096b8
2:149866806 KIF5C G>A	2	149866806	149866806	G	A	KIF5C	c.2708G>A	NM_004522.3	NP_004513.1:p.(Arg903His)	NC_000002.11:g.149866806G>A	VUS	1 lab	20981faba5
17:48172809 PDK2 G>A	17	48172809	48172809	G	A	PDK2	c.10G>A	NM_002611.4	NP_002602.2:p.(Val4Met)	NC_000017.10:g.48172809G>A	(Likely) benign	1 lab	209973fc60
9:13107114 MPDZ C>A	9	13107114	13107114	C	A	MPDZ	c.5980-4G>T	NM_003829.4	NP_003820.2:p.?	NC_000009.11:g.13107114C>A	(Likely) benign	1 lab	209ad53d7e
1:186034411 HMCN1 C>G	1	186034411	186034411	C	G	HMCN1	c.7555C>G	NM_031935.2	NP_114141.2:p.(Pro2519Ala)	NC_000001.10:g.186034411C>G	(Likely) benign	1 lab	209af68a9e
19:9068059 MUC16 C>T	19	9068059	9068059	C	T	MUC16	c.19387G>A	NM_024690.2	NP_078966.2:p.(Asp6463Asn)	NC_000019.9:g.9068059C>T	(Likely) benign	1 lab	209b136b7e
3:14199888 XPC C>T	3	14199888	14199888	C	T	XPC	c.1495G>A	NM_004628.4	NP_004619.3:p.(Ala499Thr)	NC_000003.11:g.14199888C>T	(Likely) benign	1 lab	209b4720c0
17:29533382 NF1 T>TG	17	29533382	29533384	T	TG	NF1	c.1387dup	NM_000267.3	NP_000258.1:p.(Ala463GlyfsTer7)	NC_000017.10:g.29533384dup	(Likely) pathogenic	1 lab	209d9b31da
16:9857784 GRIN2A C>T	16	9857784	9857784	C	T	GRIN2A	c.3617G>A	NM_001134407.3	NP_001127879.1:p.(Arg1206Gln)	NC_000016.9:g.9857784C>T	VUS	1 lab	209fd90d3d
6:76023777 FILIP1 A>G	6	76023777	76023777	A	G	FILIP1	c.1780T>C	NM_001289987.2	NP_001276916.1:p.(Cys594Arg)	NC_000006.11:g.76023777A>G	VUS	1 lab	20a05ab8ee
5:150905529 FAT2 G>T	5	150905529	150905529	G	T	FAT2	c.10309-3C>A	NM_001447.2	NP_001438.1:p.?	NC_000005.9:g.150905529G>T	VUS	1 lab	20a0f1a55b
15:38794605 RASGRP1 A>G	15	38794605	38794605	A	G	RASGRP1	c.1446T>C	NM_005739.3	NP_005730.2:p.(Tyr482=)	NC_000015.9:g.38794605A>G	(Likely) benign	1 lab	20a10f631e
11:552678 LRRC56 T>A	11	552678	552678	T	A	LRRC56	c.1291T>A	NM_198075.4	NP_932341.1:p.(Ser431Thr)	NC_000011.9:g.552678T>A	(Likely) benign	1 lab	20a12e6f00
16:2134478 TSC2 C>T	16	2134478	2134478	C	T	TSC2	c.4255C>T	NM_000548.3	NP_000539.2:p.(Gln1419Ter)	NC_000016.9:g.2134478C>T	(Likely) pathogenic	1 lab	20a1920052
15:43237601 UBR1 A>G	15	43237601	43237601	A	G	UBR1	c.5176T>C	NM_174916.3	NP_777576.1:p.(Cys1726Arg)	NC_000015.9:g.43237601A>G	VUS	1 lab	e5d4de8e6e
19:42471457 ATP1A3 AAAC>A	19	42471457	42471460	AAAC	A	ATP1A3	c.2954_2956del	NM_152296.5	NP_689509.1:p.(Ser985_Phe986delinsIle)	NC_000019.9:g.42471458_42471460del	(Likely) pathogenic	1 lab	20a1f9734f
8:126088591 WASHC5 C>G	8	126088591	126088591	C	G	WASHC5	c.863G>C	NM_014846.4	NP_055661.3:p.(Trp288Ser)	NC_000008.10:g.126088591C>G	VUS	1 lab	e5d600f39b
15:38614571 SPRED1 GATAGAGGTATCCGAAGAGCT>G	15	38614571	38614598	GATAGAGGTATCCGAAGAGCT	G	SPRED1	c.345_364del	NM_152594.3	NP_689807.1:p.(Ile116TyrfsTer11)	NC_000015.9:g.38614579_38614598del	(Likely) pathogenic	1 lab	20a39b4a4a
19:54314094 NLRP12 A>G	19	54314094	54314094	A	G	NLRP12	c.819T>C	NM_001277126.1	NP_001264055.1:p.(Pro273=)	NC_000019.9:g.54314094A>G	(Likely) benign	1 lab	20a3b9445e
X:119513394 ATP1B4 G>C	X	119513394	119513394	G	C	ATP1B4	c.967G>C	NM_012069.4	NP_036201.1:p.(Val323Leu)	NC_000023.10:g.119513394G>C	(Likely) benign	1 lab	20a5a3aa38
17:56770138 RAD51C A>G	17	56770138	56770138	A	G	RAD51C	c.134A>G	NM_058216.3	NP_478123.1:p.(Glu45Gly)	NC_000017.10:g.56770138A>G	VUS	1 lab	e5d6c6cd66
4:187542259 FAT1 A>C	4	187542259	187542259	A	C	FAT1	c.5481T>G	NM_005245.3	NP_005236.2:p.(Gly1827=)	NC_000004.11:g.187542259A>C	(Likely) benign	1 lab	20a710dae7
7:141736052 MGAM G>A	7	141736052	141736052	G	A	MGAM	c.2043G>A	NM_004668.2	NP_004659.2:p.(Pro681=)	NC_000007.13:g.141736052G>A	(Likely) benign	1 lab	20a7f5526b
2:225376097 CUL3 TG>T	2	225376097	225376098	TG	T	CUL3	c.856del	NM_003590.5	NP_003581.1:p.(His286IlefsTer3)	NC_000002.11:g.225376098del	VUS	1 lab	20a864d794
22:30032866 NF2 G>T	22	30032866	30032866	G	T	NF2	c.240+1G>T	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30032866G>T	(Likely) pathogenic	1 lab	20a8ebc9ac
17:79477731 ACTG1 G>A	17	79477731	79477731	G	A	ACTG1	c.1113C>T	NM_001199954.2	NP_001186883.1:p.(His371=)	NC_000017.10:g.79477731G>A	(Likely) benign	1 lab	20a96d1d66
X:148037409 AFF2 C>G	X	148037409	148037409	C	G	AFF2	c.1834C>G	NM_002025.3	NP_002016.2:p.(His612Asp)	NC_000023.10:g.148037409C>G	(Likely) benign	1 lab	20a9adadaf
1:196646781 CFH G>A	1	196646781	196646781	G	A	CFH	c.603G>A	NM_000186.3	NP_000177.2:p.(Glu201=)	NC_000001.10:g.196646781G>A	(Likely) benign	1 lab	20a9c8929b
19:50412505 NUP62 G>A	19	50412505	50412505	G	A	NUP62	c.560C>T	NM_016553.4	NP_057637.2:p.(Thr187Met)	NC_000019.9:g.50412505G>A	(Likely) benign	1 lab	20ab2935cb
2:211469907 CPS1 G>T	2	211469907	211469907	G	T	CPS1	c.1918G>T	NM_001875.4	NP_001866.2:p.(Ala640Ser)	NC_000002.11:g.211469907G>T	VUS	1 lab	20ac39126a
6:110551240 CDC40 A>C	6	110551240	110551240	A	C	CDC40	c.1646A>C	NM_015891.3	NP_056975.1:p.(His549Pro)	NC_000006.11:g.110551240A>C	VUS	1 lab	20acabc0f2
6:45909349 CLIC5 G>T	6	45909349	45909349	G	T	CLIC5	c.818C>A	NM_001114086.1	NP_001107558.1:p.(Ala273Glu)	NC_000006.11:g.45909349G>T	VUS	1 lab	20ad9a63ce
14:102482369 DYNC1H1 C>T	14	102482369	102482369	C	T	DYNC1H1	c.7419C>T	NM_001376.4	NP_001367.2:p.(Asn2473=)	NC_000014.8:g.102482369C>T	(Likely) benign	1 lab	20afb0c0d0
2:86266553 POLR1A T>C	2	86266553	86266553	T	C	POLR1A	c.3773A>G	NM_015425.6	NP_056240.2:p.(Asn1258Ser)	NC_000002.11:g.86266553T>C	VUS	1 lab	e5ddbcfc0d
X:73963055 NEXMIF A>G	X	73963055	73963055	A	G	NEXMIF	c.1337T>C	NM_001008537.2	NP_001008537.1:p.(Ile446Thr)	NC_000023.10:g.73963055A>G	(Likely) benign	1 lab	20b19729a2
10:94399549 KIF11 A>G	10	94399549	94399549	A	G	KIF11	c.2161-2A>G	NM_004523.3	NP_004514.2:p.?	NC_000010.10:g.94399549A>G	(Likely) pathogenic	1 lab	20b1eb0deb
16:84027992 NECAB2 A>C	16	84027992	84027992	A	C	NECAB2	c.682A>C	NM_019065.2	NP_061938.2:p.(Met228Leu)	NC_000016.9:g.84027992A>C	(Likely) benign	1 lab	20b20d6a9b
10:119134608 PDZD8 CCCTCGCCCGCGCGGGCGG>C	10	119134608	119134631	CCCTCGCCCGCGCGGGCGG	C	PDZD8	c.113_130del	NM_173791.5	NP_776152.1:p.(Ala38_Glu43del)	NC_000010.10:g.119134614_119134631del	VUS	1 lab	e5e199c9cf
7:97481670 ASNS C>T	7	97481670	97481670	C	T	ASNS	c.1587G>A	NM_001352496.1	NP_001339425.1:p.(Arg529=)	NC_000007.13:g.97481670C>T	(Likely) benign	1 lab	20b2ca6d5a
12:49434974 KMT2D C>T	12	49434974	49434974	C	T	KMT2D	c.6579G>A	NM_003482.3	NP_003473.3:p.(Pro2193=)	NC_000012.11:g.49434974C>T	(Likely) benign	1 lab	20b3a7c927
7:148767960 ZNF786 T>G	7	148767960	148767960	T	G	ZNF786	c.1904A>C	NM_152411.3	NP_689624.2:p.(Asp635Ala)	NC_000007.13:g.148767960T>G	VUS	1 lab	20b60d2f6b
2:179443857 TTN C>A	2	179443857	179443857	C	A	TTN	c.67900G>T	NM_001267550.1	NP_001254479.1:p.(Gly22634Ter)	NC_000002.11:g.179443857C>A	(Likely) pathogenic	1 lab	20b8666270
17:18077201 MYO15A C>T	17	18077201	18077201	C	T	MYO15A	c.10457C>T	NM_016239.3	NP_057323.3:p.(Ala3486Val)	NC_000017.10:g.18077201C>T	VUS	1 lab	20b9388cf8
18:45556089 ZBTB7C T>C	18	45556089	45556089	T	C	ZBTB7C	c.1402A>G	NM_001318841.2	NP_001305770.1:p.(Lys468Glu)	NC_000018.9:g.45556089T>C	VUS	1 lab	20b9b3cdd6
11:9007345 NRIP3 G>T	11	9007345	9007345	G	T	NRIP3	c.475C>A	NM_020645.3	NP_065696.1:p.(Pro159Thr)	NC_000011.9:g.9007345G>T	VUS	1 lab	20b9ccbb3b
5:126154705 LMNB1 G>A	5	126154705	126154705	G	A	LMNB1	c.1031G>A	NM_005573.3	NP_005564.1:p.(Arg344Lys)	NC_000005.9:g.126154705G>A	(Likely) benign	1 lab	20ba0ffbf2
8:55540682 RP1 CAT>C	8	55540682	55540685	CAT	C	RP1	c.4242_4243del	NM_006269.2	NP_006260.1:p.(His1414GlnfsTer5)	NC_000008.10:g.55540684_55540685del	(Likely) pathogenic	1 lab	20ba5c2062
3:128598625 ACAD9 C>T	3	128598625	128598625	C	T	ACAD9	c.91C>T	NM_014049.4	NP_054768.2:p.(Arg31Cys)	NC_000003.11:g.128598625C>T	VUS	1 lab	20bcd81903
X:153215947 HCFC1 G>A	X	153215947	153215947	G	A	HCFC1	c.5751C>T	NM_005334.2	NP_005325.2:p.(Ser1917=)	NC_000023.10:g.153215947G>A	(Likely) benign	1 lab	20bd77bf35
16:2114321 TSC2 G>T	16	2114321	2114321	G	T	TSC2	c.1492G>T	NM_000548.3	NP_000539.2:p.(Glu498Ter)	NC_000016.9:g.2114321G>T	(Likely) pathogenic	1 lab	20bee14eee
7:117174422 CFTR A>G	7	117174422	117174422	A	G	CFTR	c.579+3A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117174422A>G	(Likely) pathogenic	1 lab	20bf955f54
16:3786050 CREBBP C>T	16	3786050	3786050	C	T	CREBBP	c.4715G>A	NM_004380.3	NP_004371.2:p.(Ser1572Asn)	NC_000016.9:g.3786050C>T	VUS	1 lab	e5e28ea2cb
7:70255496 AUTS2 C>T	7	70255496	70255496	C	T	AUTS2	c.3222C>T	NM_001127231.2	NP_001120703.1:p.(Asn1074=)	NC_000007.13:g.70255496C>T	(Likely) benign	1 lab	20c1500507
17:73758843 GALK1 T>A	17	73758843	73758843	T	A	GALK1	c.735A>T	NM_000154.1	NP_000145.1:p.(Glu245Asp)	NC_000017.10:g.73758843T>A	VUS	1 lab	20c3247f17
16:81969797 PLCG2 C>T	16	81969797	81969797	C	T	PLCG2	c.2866C>T	NM_002661.5	NP_002652.2:p.(Arg956Cys)	NC_000016.9:g.81969797C>T	VUS	1 lab	e5e36186d5
20:10625898 JAG1 CTG>C	20	10625898	10625901	CTG	C	JAG1	c.2118_2119del	NM_000214.3	NP_000205.1:p.(Asp706GlufsTer4)	NC_000020.10:g.10625900_10625901del	(Likely) pathogenic	1 lab	20c544643f
1:21900160 ALPL C>G	1	21900160	21900160	C	G	ALPL	c.865C>G	NM_000478.5	NP_000469.3:p.(Leu289Val)	NC_000001.10:g.21900160C>G	VUS	1 lab	20ca499320
10:99625436 GOLGA7B T>G	10	99625436	99625436	T	G	GOLGA7B	c.483T>G	NM_001010917.3	NP_001010917.1:p.(Gly161=)	NC_000010.10:g.99625436T>G	(Likely) benign	1 lab	20cbfd0f20
7:148801691 ZNF425 G>A	7	148801691	148801691	G	A	ZNF425	c.1272C>T	NM_001001661.3	NP_001001661.1:p.(Arg424=)	NC_000007.13:g.148801691G>A	(Likely) benign	1 lab	20d12b87b4
20:2380325 TGM6 G>A	20	2380325	2380325	G	A	TGM6	c.791G>A	NM_198994.2	NP_945345.2:p.(Gly264Asp)	NC_000020.10:g.2380325G>A	VUS	1 lab	20d1527da0
14:21816392 RPGRIP1 G>C	14	21816392	21816392	G	C	RPGRIP1	c.3679G>C	NM_020366.3	NP_065099.3:p.(Gly1227Arg)	NC_000014.8:g.21816392G>C	VUS	1 lab	20d1d13580
16:2135315 TSC2 G>T	16	2135315	2135315	G	T	TSC2	c.4654G>T	NM_000548.3	NP_000539.2:p.(Glu1552Ter)	NC_000016.9:g.2135315G>T	(Likely) pathogenic	1 lab	20d3525d4f
1:209795994 LAMB3 A>C	1	209795994	209795994	A	C	LAMB3	c.2588T>G	NM_000228.3	NP_000219.2:p.(Ile863Ser)	NC_000001.10:g.209795994A>C	VUS	1 lab	e5ed7427aa
10:91198522 SLC16A12 G>A	10	91198522	91198522	G	A	SLC16A12	c.867C>T	NM_213606.3	NP_998771.3:p.(Ser289=)	NC_000010.10:g.91198522G>A	(Likely) benign	1 lab	20d4a3ac99
8:104343611 FZD6 G>C	8	104343611	104343611	G	C	FZD6	c.1995G>C	NM_003506.4	NP_003497.2:p.(Gln665His)	NC_000008.10:g.104343611G>C	VUS	1 lab	20d57591cb
15:90984817 IQGAP1 G>A	15	90984817	90984817	G	A	IQGAP1	c.729G>A	NM_003870.3	NP_003861.1:p.(Pro243=)	NC_000015.9:g.90984817G>A	(Likely) benign	1 lab	20d60777cd
10:50732331 ERCC6 T>C	10	50732331	50732331	T	C	ERCC6	c.1145A>G	NM_001346440.1	NP_001333369.1:p.(Glu382Gly)	NC_000010.10:g.50732331T>C	VUS	1 lab	20d7437e0c
7:156572427 LMBR1 C>T	7	156572427	156572427	C	T	LMBR1	c.-111-1G>A	NM_001350955.1	NP_001337884.1:p.?	NC_000007.13:g.156572427C>T	VUS	1 lab	20d7bdeabe
X:47308505 ZNF41 T>C	X	47308505	47308505	T	C	ZNF41	c.664A>G	NM_007130.3	NP_009061.1:p.(Asn222Asp)	NC_000023.10:g.47308505T>C	(Likely) benign	1 lab	20d83f6271
12:98926599 TMPO A>T	12	98926599	98926599	A	T	TMPO	c.566-2A>T	NM_003276.2	NP_003267.1:p.?	NC_000012.11:g.98926599A>T	(Likely) pathogenic	1 lab	20d86a7094
2:26700315 OTOF C>T	2	26700315	26700315	C	T	OTOF	c.2375G>A	NM_194248.2	NP_919224.1:p.(Arg792Gln)	NC_000002.11:g.26700315C>T	VUS	1 lab	20d9003c2a
1:68904637 RPE65 CA>C	1	68904637	68904638	CA	C	RPE65	c.985del	NM_000329.3	NP_000320.1:p.(Cys329AlafsTer15)	NC_000001.10:g.68904638del	(Likely) pathogenic	1 lab	20d9a6fd4e
X:149818276 MTM1 G>T	X	149818276	149818276	G	T	MTM1	c.955G>T	NM_000252.2	NP_000243.1:p.(Glu319Ter)	NC_000023.10:g.149818276G>T	(Likely) pathogenic	1 lab	20d9aeddba
X:69595077 KIF4A G>A	X	69595077	69595077	G	A	KIF4A	c.1802G>A	NM_012310.4	NP_036442.3:p.(Arg601His)	NC_000023.10:g.69595077G>A	VUS	1 lab	20da7b82ae
8:144993813 PLEC C>G	8	144993813	144993813	C	G	PLEC	c.10587G>C	NM_201380.3	NP_958782.1:p.(Gln3529His)	NC_000008.10:g.144993813C>G	VUS	1 lab	20db29408c
5:178410144 GRM6 G>T	5	178410144	178410144	G	T	GRM6	c.2203C>A	NM_000843.4	NP_000834.2:p.(Pro735Thr)	NC_000005.9:g.178410144G>T	VUS	1 lab	20dd96f78b
2:179632861 TTN T>C	2	179632861	179632861	T	C	TTN	c.9185A>G	NM_001267550.2	NP_001254479.2:p.(Lys3062Arg)	NC_000002.11:g.179632861T>C	(Likely) benign	1 lab	e5f1c5082a
17:41223037 BRCA1 C>T	17	41223037	41223037	C	T	BRCA1	c.4894G>A	NM_007294.4	NP_009225.1:p.(Val1632Met)	NC_000017.10:g.41223037C>T	(Likely) benign	1 lab	e5f805f7fe
1:40781314 COL9A2 C>G	1	40781314	40781314	C	G	COL9A2	c.98G>C	NM_001852.4	NP_001843.1:p.(Gly33Ala)	NC_000001.10:g.40781314C>G	(Likely) pathogenic	1 lab	20e3bd85b6
9:135139670 SETX G>A	9	135139670	135139670	G	A	SETX	c.7990C>T	NM_015046.5	NP_055861.3:p.(Leu2664=)	NC_000009.11:g.135139670G>A	(Likely) benign	1 lab	20e3c59c20
15:28447502 HERC2 T>C	15	28447502	28447502	T	C	HERC2	c.7471A>G	NM_004667.5	NP_004658.3:p.(Ser2491Gly)	NC_000015.9:g.28447502T>C	(Likely) benign	1 lab	20e449efc2
12:111057771 TCTN1 C>T	12	111057771	111057771	C	T	TCTN1	c.-367+10C>T	NM_001319681.1	NP_001306610.1:p.?	NC_000012.11:g.111057771C>T	(Likely) benign	1 lab	20e46be779
X:48934147 WDR45 G>A	X	48934147	48934147	G	A	WDR45	c.381C>T	NM_007075.3	NP_009006.2:p.(Tyr127=)	NC_000023.10:g.48934147G>A	(Likely) benign	1 lab	20e670bb32
19:44833219 ZNF112 T>C	19	44833219	44833219	T	C	ZNF112	c.1109A>G	NM_001083335.1	NP_001076804.1:p.(His370Arg)	NC_000019.9:g.44833219T>C	(Likely) benign	1 lab	20e6bedfd3
6:32039793 TNXB C>T	6	32039793	32039793	C	T	TNXB	c.4964G>A	NM_019105.6	NP_061978.6:p.(Ser1655Asn)	NC_000006.11:g.32039793C>T	(Likely) benign	1 lab	20e8f41bf2
12:52867027 KRT6C C>T	12	52867027	52867027	C	T	KRT6C	c.495G>A	NM_173086.4	NP_775109.2:p.(Glu165=)	NC_000012.11:g.52867027C>T	(Likely) benign	1 lab	20eac14ff1
19:47571026 ZC3H4 C>T	19	47571026	47571026	C	T	ZC3H4	c.2499G>A	NM_015168.1	NP_055983.1:p.(Pro833=)	NC_000019.9:g.47571026C>T	(Likely) benign	1 lab	20ec1d48bc
X:31462661 DMD A>T	X	31462661	31462661	A	T	DMD	c.8652T>A	NM_004010.3	NP_004001.1:p.(Ile2884=)	NC_000023.10:g.31462661A>T	(Likely) benign	1 lab	20ec477523
6:152690235 SYNE1 C>T	6	152690235	152690235	C	T	SYNE1	c.9679G>A	NM_182961.3	NP_892006.3:p.(Glu3227Lys)	NC_000006.11:g.152690235C>T	VUS	1 lab	20ecc0d797
14:68270833 ZFYVE26 G>A	14	68270833	68270833	G	A	ZFYVE26	c.1420C>T	NM_015346.3	NP_056161.2:p.(Pro474Ser)	NC_000014.8:g.68270833G>A	(Likely) benign	1 lab	20ecc8ca78
9:135779798 TSC1 C>G	9	135779798	135779798	C	G	TSC1	c.2041G>C	NM_000368.4	NP_000359.1:p.(Gly681Arg)	NC_000009.11:g.135779798C>G	VUS	1 lab	20ed440773
16:87678144 JPH3 T>C	16	87678144	87678144	T	C	JPH3	c.663T>C	NM_020655.4	NP_065706.2:p.(Ser221=)	NC_000016.9:g.87678144T>C	(Likely) benign	1 lab	e5f8e3f5b4
17:41215891 BRCA1 A>G	17	41215891	41215891	A	G	BRCA1	c.5152T>C	NM_007294.3	NP_009225.1:p.(Trp1718Arg)	NC_000017.10:g.41215891A>G	VUS	1 lab	20f0345f25
11:62291996 AHNAK A>C	11	62291996	62291996	A	C	AHNAK	c.9893T>G	NM_001620.2	NP_001611.1:p.(Ile3298Ser)	NC_000011.9:g.62291996A>C	VUS	1 lab	20f35e8ad1
6:107780315 PDSS2 T>C	6	107780315	107780315	T	C	PDSS2	c.175A>G	NM_020381.3	NP_065114.3:p.(Ile59Val)	NC_000006.11:g.107780315T>C	(Likely) benign	1 lab	20f36533ce
X:2825439 ARSD C>T	X	2825439	2825439	C	T	ARSD	c.1655G>A	NM_001669.3	NP_001660.2:p.(Arg552Gln)	NC_000023.10:g.2825439C>T	(Likely) benign	1 lab	20f54d22ce
X:82763881 POU3F4 C>T	X	82763881	82763881	C	T	POU3F4	c.549C>T	NM_000307.4	NP_000298.3:p.(His183=)	NC_000023.10:g.82763881C>T	(Likely) benign	1 lab	20f7bf3a87
12:40716268 LRRK2 A>G	12	40716268	40716268	A	G	LRRK2	c.5465A>G	NM_198578.3	NP_940980.3:p.(His1822Arg)	NC_000012.11:g.40716268A>G	(Likely) benign	1 lab	20f91729a2
18:28649011 DSC2 A>G	18	28649011	28649011	A	G	DSC2	c.2357T>C	NM_024422.4	NP_077740.1:p.(Met786Thr)	NC_000018.9:g.28649011A>G	VUS	1 lab	20fa7021bc
1:227078955 PSEN2 T>C	1	227078955	227078955	T	C	PSEN2	c.887-24T>C	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227078955T>C	(Likely) benign	1 lab	20fd113732
22:21066909 PI4KA A>G	22	21066909	21066909	A	G	PI4KA	c.5677-10T>C	NM_058004.3	NP_477352.3:p.?	NC_000022.10:g.21066909A>G	(Likely) benign	1 lab	20ff020e19
1:240255851 FMN2 G>T	1	240255851	240255851	G	T	FMN2	c.442G>T	NM_001305424.1	NP_001292353.1:p.(Gly148Trp)	NC_000001.10:g.240255851G>T	VUS	1 lab	20ff8f4192
2:44586754 PREPL G>A	2	44586754	44586754	G	A	PREPL	c.101C>T	NM_006036.4	NP_006027.2:p.(Ala34Val)	NC_000002.11:g.44586754G>A	(Likely) benign	1 lab	210075ab25
1:46659524 POMGNT1 T>C	1	46659524	46659524	T	C	POMGNT1	c.950+3A>G	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46659524T>C	(Likely) benign	1 lab	21016356d2
11:117864804 IL10RA G>A	11	117864804	117864804	G	A	IL10RA	c.628G>A	NM_001558.3	NP_001549.2:p.(Ala210Thr)	NC_000011.9:g.117864804G>A	(Likely) benign	1 lab	210349884a
X:53573488 HUWE1 G>C	X	53573488	53573488	G	C	HUWE1	c.10824C>G	NM_031407.6	NP_113584.3:p.(Leu3608=)	NC_000023.10:g.53573488G>C	(Likely) benign	1 lab	2103df4eff
12:124957522 NCOR2 C>G	12	124957522	124957522	C	G	NCOR2	c.567G>C	NM_006312.5	NP_006303.4:p.(Gln189His)	NC_000012.11:g.124957522C>G	VUS	1 lab	210419563f
16:10996533 CIITA C>G	16	10996533	10996533	C	G	CIITA	c.650C>G	NM_001286402.1	NP_001273331.1:p.(Ser217Trp)	NC_000016.9:g.10996533C>G	VUS	1 lab	2104eb5f9e
19:11347068 DOCK6 C>T	19	11347068	11347068	C	T	DOCK6	c.2346G>A	NM_020812.3	NP_065863.2:p.(Lys782=)	NC_000019.9:g.11347068C>T	(Likely) benign	1 lab	21055cc58f
2:29432625 ALK C>A	2	29432625	29432625	C	A	ALK				NC_000002.11:g.29432625C>A	(Likely) benign	1 lab	2105cc77a3
X:79938015 BRWD3 C>A	X	79938015	79938015	C	A	BRWD3	c.4346G>T	NM_153252.4	NP_694984.4:p.(Arg1449Ile)	NC_000023.10:g.79938015C>A	VUS	1 lab	2105dab21a
16:2136795 TSC2 A>T	16	2136795	2136795	A	T	TSC2	c.4912A>T	NM_000548.3	NP_000539.2:p.(Lys1638Ter)	NC_000016.9:g.2136795A>T	(Likely) pathogenic	1 lab	21062ba87f
22:38169786 TRIOBP T>C	22	38169786	38169786	T	C	TRIOBP	c.*3-4T>C	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38169786T>C	(Likely) benign	1 lab	210948b43a
6:152476025 SYNE1 A>G	6	152476025	152476025	A	G	SYNE1	c.24129+2T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152476025A>G	(Likely) pathogenic	1 lab	210abb632d
7:100637417 MUC12 C>A	7	100637417	100637417	C	A	MUC12	c.3573C>A	NM_001164462.1	NP_001157934.1:p.(Ser1191Arg)	NC_000007.13:g.100637417C>A	(Likely) benign	1 lab	210c24d5c0
17:62025979 SCN4A C>A	17	62025979	62025979	C	A	SCN4A	c.3136G>T	NM_000334.4	NP_000325.4:p.(Gly1046Trp)	NC_000017.10:g.62025979C>A	VUS	1 lab	210c77710d
8:145001774 PLEC C>T	8	145001774	145001774	C	T	PLEC	c.3971G>A	NM_201380.3	NP_958782.1:p.(Arg1324His)	NC_000008.10:g.145001774C>T	VUS	1 lab	210d819249
17:56281676 EPX T>G	17	56281676	56281676	T	G	EPX	c.2040T>G	NM_000502.5	NP_000493.1:p.(Gly680=)	NC_000017.10:g.56281676T>G	(Likely) benign	1 lab	210e6a58e7
14:64540803 SYNE2 A>T	14	64540803	64540803	A	T	SYNE2	c.10815A>T	NM_182914.2	NP_878918.2:p.(Ser3605=)	NC_000014.8:g.64540803A>T	(Likely) benign	1 lab	210e710b2e
10:115327243 HABP2 T>G	10	115327243	115327243	T	G	HABP2	c.70-5T>G	NM_004132.4	NP_004123.1:p.?	NC_000010.10:g.115327243T>G	(Likely) benign	1 lab	210f3e745f
3:197410199 RUBCN C>T	3	197410199	197410199	C	T	RUBCN	c.1824G>A	NM_001145642.4	NP_001139114.1:p.(Pro608=)	NC_000003.11:g.197410199C>T	(Likely) benign	1 lab	211095c5e0
3:123674951 CCDC14 TAC>T	3	123674951	123674954	TAC	T	CCDC14	c.169_170del	NM_001366335.1	NP_001353264.1:p.(Val57ThrfsTer4)	NC_000003.11:g.123674953_123674954del	VUS	1 lab	2111ab43b2
17:29654605 NF1 C>A	17	29654605	29654605	C	A	NF1	c.5294C>A	NM_000267.3	NP_000258.1:p.(Ser1765Ter)	NC_000017.10:g.29654605C>A	(Likely) pathogenic	1 lab	21147f984f
12:70988320 PTPRB G>A	12	70988320	70988320	G	A	PTPRB	c.1443C>T	NM_001109754.3	NP_001103224.1:p.(Gly481=)	NC_000012.11:g.70988320G>A	(Likely) benign	1 lab	2117105901
3:49457648 AMT ATGAGGGCCAAATCTT>A	3	49457648	49457664	ATGAGGGCCAAATCTT	A	AMT	c.452_466del	NM_000481.4	NP_000472.2:p.(Lys151_Leu155del)	NC_000003.11:g.49457650_49457664del	VUS	1 lab	2117d39414
2:203019497 KIAA2012 G>A	2	203019497	203019497	G	A	KIAA2012	c.2010G>A	NM_001277372.2	NP_001264301.2:p.(Thr670=)	NC_000002.11:g.203019497G>A	(Likely) benign	1 lab	211887d0a3
9:99701264 NUTM2G T>C	9	99701264	99701264	T	C	NUTM2G	c.2059T>C	NM_001170741.1	NP_001164212.1:p.(Phe687Leu)	NC_000009.11:g.99701264T>C	(Likely) benign	1 lab	21199da4a6
9:135205893 SETX T>C	9	135205893	135205893	T	C	SETX	c.1099-7A>G	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135205893T>C	(Likely) benign	1 lab	2119ad8f87
14:58796296 ARID4A C>T	14	58796296	58796296	C	T	ARID4A	c.713C>T	NM_002892.4	NP_002883.3:p.(Pro238Leu)	NC_000014.8:g.58796296C>T	VUS	1 lab	e5fd8d4d4b
13:111137975 COL4A2 G>T	13	111137975	111137975	G	T	COL4A2	c.3026-27G>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111137975G>T	(Likely) benign	1 lab	211ad19454
12:88471047 CEP290 T>C	12	88471047	88471047	T	C	CEP290	c.5661A>G	NM_025114.3	NP_079390.3:p.(Gln1887=)	NC_000012.11:g.88471047T>C	(Likely) benign	1 lab	211afa56ad
9:133907564 LAMC3 TAGGAGGG>T	9	133907564	133907581	TAGGAGGG	T	LAMC3	c.809+13_809+19del	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133907575_133907581del	(Likely) benign	1 lab	211bb4e1b6
X:76939368 ATRX T>C	X	76939368	76939368	T	C	ATRX	c.1380A>G	NM_000489.5	NP_000480.3:p.(Ser460=)	NC_000023.10:g.76939368T>C	(Likely) benign	1 lab	211d2b93f9
3:129214423 IFT122 C>T	3	129214423	129214423	C	T	IFT122	c.2334C>T	NM_052985.3	NP_443711.2:p.(Thr778=)	NC_000003.11:g.129214423C>T	(Likely) benign	1 lab	211e0f046e
9:35657946 RMRP C>A	9	35657946	35657946	C	A	RMRP	n.70G>T	NR_003051.3		NC_000009.11:g.35657946C>A	VUS	1 lab	211e33ca2b
22:32179913 DEPDC5 G>A	22	32179913	32179913	G	A	DEPDC5	c.504G>A	NM_001242896.2	NP_001229825.1:p.(Ser168=)	NC_000022.10:g.32179913G>A	(Likely) benign	1 lab	211f63a62a
17:80606166 WDR45B G>A	17	80606166	80606166	G	A	WDR45B	c.51C>T	NM_019613.3	NP_062559.2:p.(Gly17=)	NC_000017.10:g.80606166G>A	(Likely) benign	1 lab	211f64c0d3
X:144337195 SPANXN1 A>C	X	144337195	144337195	A	C	SPANXN1	c.80A>C	NM_001009614.2	NP_001009614.1:p.(Gln27Pro)	NC_000023.10:g.144337195A>C	(Likely) benign	1 lab	211fc2552b
14:69061228 RAD51B G>A	14	69061228	69061228	G	A	RAD51B	c.1063G>A	NM_133509.3	NP_598193.2:p.(Ala355Thr)	NC_000014.8:g.69061228G>A	(Likely) benign	1 lab	211ff0d16d
7:42017246 GLI3 G>A	7	42017246	42017246	G	A	GLI3	c.1723C>T	NM_000168.5	NP_000159.3:p.(Pro575Ser)	NC_000007.13:g.42017246G>A	VUS	1 lab	2120054e2a
19:11136166 SMARCA4 C>T	19	11136166	11136166	C	T	SMARCA4	c.3150C>T	NM_001128844.1	NP_001122316.1:p.(Tyr1050=)	NC_000019.9:g.11136166C>T	(Likely) benign	1 lab	2120846274
X:1720429 AKAP17A G>A	X	1720429	1720429	G	A	AKAP17A	c.2030G>A	NM_005088.2	NP_005079.2:p.(Arg677Gln)	NC_000023.10:g.1720429G>A	(Likely) benign	1 lab	21209536d8
14:76045387 FLVCR2 CCCCAGCGTCTCGGTCCAT>C	14	76045387	76045434	CCCCAGCGTCTCGGTCCAT	C	FLVCR2	c.102_119del	NM_017791.3	NP_060261.2:p.(Val35_Ser40del)	NC_000014.8:g.76045417_76045434del	VUS	1 lab	2120a7e708
2:29294548 PCARE C>T	2	29294548	29294548	C	T	PCARE	c.2580G>A	NM_001029883.2	NP_001025054.1:p.(Lys860=)	NC_000002.11:g.29294548C>T	(Likely) benign	1 lab	2120fbb689
9:139410555 NOTCH1 G>A	9	139410555	139410555	G	A	NOTCH1	c.1556-9C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410555G>A	(Likely) benign	1 lab	21215c93d3
16:23637632 PALB2 G>A	16	23637632	23637632	G	A	PALB2	c.2673C>T	NM_024675.3	NP_078951.2:p.(Cys891=)	NC_000016.9:g.23637632G>A	(Likely) benign	1 lab	2121628387
4:15516398 CC2D2A C>A	4	15516398	15516398	C	A	CC2D2A	c.786C>A	NM_001080522.2	NP_001073991.2:p.(Asp262Glu)	NC_000004.11:g.15516398C>A	(Likely) benign	1 lab	21228d446a
13:23914973 SACS T>C	13	23914973	23914973	T	C	SACS	c.3042A>G	NM_014363.5	NP_055178.3:p.(Leu1014=)	NC_000013.10:g.23914973T>C	(Likely) benign	1 lab	2123c95bdf
8:144999071 PLEC G>A	8	144999071	144999071	G	A	PLEC	c.5437C>T	NM_201380.3	NP_958782.1:p.(Arg1813Cys)	NC_000008.10:g.144999071G>A	VUS	1 lab	2124009482
14:21993316 SALL2 G>A	14	21993316	21993316	G	A	SALL2	c.546C>T	NM_005407.2	NP_005398.2:p.(Ile182=)	NC_000014.8:g.21993316G>A	(Likely) benign	1 lab	2124392e4f
10:81317014 SFTPA2 C>A	10	81317014	81317014	C	A	SFTPA2	c.698G>T	NM_001098668.3	NP_001092138.1:p.(Trp233Leu)	NC_000010.10:g.81317014C>A	VUS	1 lab	2124393017
6:38825388 DNAH8 A>T	6	38825388	38825388	A	T	DNAH8	c.5828A>T	NM_001206927.1	NP_001193856.1:p.(Asn1943Ile)	NC_000006.11:g.38825388A>T	VUS	1 lab	212589d384
17:3144494 OR1D4 C>T	17	3144494	3144494	C	T	OR1D4	c.525C>T	NM_003552.3	NP_003543.3:p.(His175=)	NC_000017.10:g.3144494C>T	(Likely) benign	1 lab	212668e156
3:189838168 P3H2 C>T	3	189838168	189838168	C	T	P3H2	c.353G>A	NM_018192.4	NP_060662.2:p.(Arg118His)	NC_000003.11:g.189838168C>T	VUS	1 lab	21266ca8bb
5:90046447 ADGRV1 A>G	5	90046447	90046447	A	G	ADGRV1	c.11054A>G	NM_032119.4	NP_115495.3:p.(Tyr3685Cys)	NC_000005.9:g.90046447A>G	VUS	1 lab	2127c10e07
1:108769306 NBPF4 C>T	1	108769306	108769306	C	T	NBPF4	c.1870G>A	NM_001143989.2	NP_001137461.1:p.(Ala624Thr)	NC_000001.10:g.108769306C>T	(Likely) benign	1 lab	21282f4258
X:49645615 USP27X C>G	X	49645615	49645615	C	G	USP27X	c.705C>G	NM_001145073.2	NP_001138545.1:p.(Gly235=)	NC_000023.10:g.49645615C>G	(Likely) benign	1 lab	212a7c164a
X:149638292 MAMLD1 G>T	X	149638292	149638292	G	T	MAMLD1	c.447G>T	NM_005491.4	NP_005482.2:p.(Gln149His)	NC_000023.10:g.149638292G>T	(Likely) benign	1 lab	212b20e278
17:72469708 CD300A C>T	17	72469708	72469708	C	T	CD300A	c.74C>T	NM_007261.3	NP_009192.2:p.(Ala25Val)	NC_000017.10:g.72469708C>T	(Likely) benign	1 lab	212c4b2d43
19:36223699 KMT2B G>T	19	36223699	36223699	G	T	KMT2B	c.6249G>T	NM_014727.2	NP_055542.1:p.(Thr2083=)	NC_000019.9:g.36223699G>T	(Likely) benign	1 lab	212d1b1aec
8:100866361 VPS13B A>G	8	100866361	100866361	A	G	VPS13B	c.10819A>G	NM_017890.4	NP_060360.3:p.(Ile3607Val)	NC_000008.10:g.100866361A>G	VUS	1 lab	212da6165e
20:62326873 RTEL1 C>T	20	62326873	62326873	C	T	RTEL1	c.3692C>T	NM_001283009.1	NP_001269938.1:p.(Thr1231Met)	NC_000020.10:g.62326873C>T	(Likely) benign	1 lab	213035f6e1
21:47648479 LSS C>T	21	47648479	47648479	C	T	LSS	c.49G>A	NM_002340.6	NP_002331.3:p.(Glu17Lys)	NC_000021.8:g.47648479C>T	VUS	1 lab	2130641ed4
5:67591018 PIK3R1 A>C	5	67591018	67591018	A	C	PIK3R1	c.1611A>C	NM_181523.3	NP_852664.1:p.(Glu537Asp)	NC_000005.9:g.67591018A>C	VUS	1 lab	e60690fb54
8:48713457 PRKDC G>A	8	48713457	48713457	G	A	PRKDC	c.10013C>T	NM_006904.6	NP_008835.5:p.(Ala3338Val)	NC_000008.10:g.48713457G>A	VUS	1 lab	2132e05e17
5:14336753 TRIO C>T	5	14336753	14336753	C	T	TRIO	c.1963C>T	NM_007118.4	NP_009049.2:p.(Arg655Trp)	NC_000005.9:g.14336753C>T	VUS	1 lab	e607d10b58
2:149247438 MBD5 G>A	2	149247438	149247438	G	A	MBD5	c.3538G>A	NM_018328.4	NP_060798.2:p.(Asp1180Asn)	NC_000002.11:g.149247438G>A	VUS	1 lab	2135bde44c
8:121823643 SNTB1 C>T	8	121823643	121823643	C	T	SNTB1	c.441G>A	NM_021021.4	NP_066301.1:p.(Ala147=)	NC_000008.10:g.121823643C>T	(Likely) benign	1 lab	21360a9f6d
10:86017703 RGR A>C	10	86017703	86017703	A	C	RGR	c.697A>C	NM_002921.3	NP_002912.2:p.(Ile233Leu)	NC_000010.10:g.86017703A>C	(Likely) benign	1 lab	21381628c8
16:50810173 CYLD A>G	16	50810173	50810173	A	G	CYLD	c.1006A>G	NM_015247.2	NP_056062.1:p.(Lys336Glu)	NC_000016.9:g.50810173A>G	VUS	1 lab	21382a1140
16:70862321 HYDIN G>A	16	70862321	70862321	G	A	HYDIN	c.14124C>T	NM_001270974.2	NP_001257903.1:p.(Phe4708=)	NC_000016.9:g.70862321G>A	(Likely) benign	1 lab	2138873241
16:88793260 PIEZO1 C>A	16	88793260	88793260	C	A	PIEZO1	c.3562G>T	NM_001142864.4	NP_001136336.2:p.(Gly1188Cys)	NC_000016.9:g.88793260C>A	VUS	1 lab	2138ba1338
19:51890641 LIM2 C>T	19	51890641	51890641	C	T	LIM2	c.57G>A	NM_030657.3	NP_085915.2:p.(Leu19=)	NC_000019.9:g.51890641C>T	(Likely) benign	1 lab	2138e25515
2:179604342 TTN C>T	2	179604342	179604342	C	T	TTN	c.13618G>A	NM_001267550.1	NP_001254479.1:p.(Val4540Met)	NC_000002.11:g.179604342C>T	VUS	1 lab	2139f6df4c
2:85596853 ELMOD3 T>C	2	85596853	85596853	T	C	ELMOD3	c.269-9T>C	NM_001329791.1	NP_001316720.1:p.?	NC_000002.11:g.85596853T>C	(Likely) benign	1 lab	213a37935e
1:19550018 EMC1 C>T	1	19550018	19550018	C	T	EMC1	c.2248G>A	NM_015047.2	NP_055862.1:p.(Ala750Thr)	NC_000001.10:g.19550018C>T	(Likely) benign	1 lab	213a4b7212
10:14961745 DCLRE1C C>T	10	14961745	14961745	C	T	DCLRE1C	c.788G>A	NM_001289079.1	NP_001276008.1:p.(Arg263Gln)	NC_000010.10:g.14961745C>T	(Likely) benign	1 lab	213a709da8
1:17597398 PADI3 A>G	1	17597398	17597398	A	G	PADI3	c.856A>G	NM_016233.2	NP_057317.2:p.(Thr286Ala)	NC_000001.10:g.17597398A>G	VUS	1 lab	e60a890605
1:94497594 ABCA4 C>T	1	94497594	94497594	C	T	ABCA4	c.3868G>A	NM_000350.2	NP_000341.2:p.(Ala1290Thr)	NC_000001.10:g.94497594C>T	(Likely) benign	1 lab	213d825d68
6:88239320 RARS2 C>G	6	88239320	88239320	C	G	RARS2	c.293G>C	NM_001350508.1	NP_001337437.1:p.(Arg98Pro)	NC_000006.11:g.88239320C>G	VUS	1 lab	213e037dcb
2:179542613 TTN A>G	2	179542613	179542613	A	G	TTN	c.34026T>C	NM_001267550.1	NP_001254479.1:p.(Pro11342=)	NC_000002.11:g.179542613A>G	(Likely) benign	1 lab	213e1012a6
5:137275968 FAM13B C>G	5	137275968	137275968	C	G	FAM13B	c.2694G>C	NM_016603.3	NP_057687.2:p.(Lys898Asn)	NC_000005.9:g.137275968C>G	VUS	1 lab	213fdfb19a
X:24197359 ZFX T>C	X	24197359	24197359	T	C	ZFX	c.118T>C	NM_003410.3	NP_003401.2:p.(Phe40Leu)	NC_000023.10:g.24197359T>C	VUS	1 lab	21401d3ff2
11:6638385 TPP1 C>T	11	6638385	6638385	C	T	TPP1	c.509-1G>A	NM_000391.4	NP_000382.3:p.?	NC_000011.9:g.6638385C>T	(Likely) pathogenic	1 lab	e610a59998
1:94568671 ABCA4 A>T	1	94568671	94568671	A	T	ABCA4	c.470T>A	NM_000350.2	NP_000341.2:p.(Leu157Ter)	NC_000001.10:g.94568671A>T	(Likely) pathogenic	1 lab	21429f9c25
2:241676509 KIF1A G>A	2	241676509	241676509	G	A	KIF1A	c.3978C>T	NM_001244008.1	NP_001230937.1:p.(Ser1326=)	NC_000002.11:g.241676509G>A	(Likely) benign	1 lab	214424d62d
2:227946865 COL4A4 C>G	2	227946865	227946865	C	G	COL4A4	c.1662G>C	NM_000092.4	NP_000083.3:p.(Gly554=)	NC_000002.11:g.227946865C>G	(Likely) benign	1 lab	2144708a17
9:135205028 SETX G>T	9	135205028	135205028	G	T	SETX	c.1957C>A	NM_015046.5	NP_055861.3:p.(Gln653Lys)	NC_000009.11:g.135205028G>T	(Likely) benign	1 lab	2146ce9a2b
22:24765218 SPECC1L C>T	22	24765218	24765218	C	T	SPECC1L	c.3017C>T	NM_015330.4	NP_056145.4:p.(Ala1006Val)	NC_000022.10:g.24765218C>T	VUS	1 lab	2146d80297
5:169535563 FOXI1 A>G	5	169535563	169535563	A	G	FOXI1	c.1085A>G	NM_012188.4	NP_036320.2:p.(Asn362Ser)	NC_000005.9:g.169535563A>G	(Likely) benign	1 lab	21478a1c03
2:212426691 ERBB4 G>T	2	212426691	212426691	G	T	ERBB4	c.2424C>A	NM_005235.2	NP_005226.1:p.(Val808=)	NC_000002.11:g.212426691G>T	(Likely) benign	1 lab	2147ae0af1
22:50962075 SCO2 G>A	22	50962075	50962075	G	A	SCO2	c.766C>T	NM_001169109.1	NP_001162580.1:p.(Arg256Trp)	NC_000022.10:g.50962075G>A	VUS	1 lab	2148f88bc4
1:151315328 RFX5 T>C	1	151315328	151315328	T	C	RFX5	c.1185A>G	NM_000449.3	NP_000440.1:p.(Gly395=)	NC_000001.10:g.151315328T>C	(Likely) benign	1 lab	214986ac6f
12:70048840 BEST3 T>C	12	70048840	70048840	T	C	BEST3	c.1854A>G	NM_032735.3	NP_116124.2:p.(Leu618=)	NC_000012.11:g.70048840T>C	(Likely) benign	1 lab	21499283cc
22:36691547 MYH9 A>G	22	36691547	36691547	A	G	MYH9	c.3485+4T>C	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36691547A>G	(Likely) benign	1 lab	214a876051
2:179393955 TTN G>T	2	179393955	179393955	G	T	TTN	c.106532-9C>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179393955G>T	(Likely) benign	1 lab	214a9e961f
4:38907223 FAM114A1 G>C	4	38907223	38907223	G	C	FAM114A1	c.517G>C	NM_138389.3	NP_612398.2:p.(Ala173Pro)	NC_000004.11:g.38907223G>C	VUS	1 lab	214ab356cb
15:28951301 GOLGA8M T>G	15	28951301	28951301	T	G	GOLGA8M	c.835A>C	NM_001282468.1	NP_001269397.1:p.(Lys279Gln)	NC_000015.9:g.28951301T>G	(Likely) benign	1 lab	214d461321
X:152818590 ATP2B3 G>A	X	152818590	152818590	G	A	ATP2B3	c.1921G>A	NM_021949.3	NP_068768.2:p.(Asp641Asn)	NC_000023.10:g.152818590G>A	(Likely) benign	1 lab	214d6af128
21:35134241 ITSN1 A>G	21	35134241	35134241	A	G	ITSN1	c.739A>G	NM_001331010.1	NP_001317939.1:p.(Thr247Ala)	NC_000021.8:g.35134241A>G	(Likely) benign	1 lab	214e91094e
21:33044670 SCAF4 A>G	21	33044670	33044670	A	G	SCAF4	c.2489-3T>C	NM_020706.2	NP_065757.1:p.?	NC_000021.8:g.33044670A>G	(Likely) benign	1 lab	214ed699bc
20:23028509 THBD C>T	20	23028509	23028509	C	T	THBD	c.1633G>A	NM_000361.3	NP_000352.1:p.(Ala545Thr)	NC_000020.10:g.23028509C>T	(Likely) benign	1 lab	e615d9ae3f
16:89985999 MC1R G>A	16	89985999	89985999	G	A	MC1R	c.333G>A	NM_002386.3	NP_002377.4:p.(Ala111=)	NC_000016.9:g.89985999G>A	(Likely) benign	1 lab	21523dc103
21:47818055 PCNT G>A	21	47818055	47818055	G	A	PCNT	c.4563+11G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47818055G>A	(Likely) benign	1 lab	215360f4bc
8:32613928 NRG1 C>T	8	32613928	32613928	C	T	NRG1	c.826C>T	NM_013956.4	NP_039250.2:p.(Arg276Trp)	NC_000008.10:g.32613928C>T	VUS	1 lab	21546d4b73
X:64137746 ZC4H2 G>T	X	64137746	64137746	G	T	ZC4H2	c.523C>A	NM_001178032.2	NP_001171503.1:p.(Arg175=)	NC_000023.10:g.64137746G>T	(Likely) benign	1 lab	215580d903
9:379924 DOCK8 T>C	9	379924	379924	T	C	DOCK8	c.2594T>C	NM_203447.3	NP_982272.2:p.(Val865Ala)	NC_000009.11:g.379924T>C	(Likely) benign	1 lab	2156a5972f
19:14516599 ADGRE5 CTG>C	19	14516599	14516602	CTG	C	ADGRE5	c.1671_1672del	NM_078481.4	NP_510966.1:p.(Ser558ThrfsTer131)	NC_000019.9:g.14516601_14516602del	VUS	1 lab	2157435deb
8:61765739 CHD7 A>G	8	61765739	61765739	A	G	CHD7				NC_000008.10:g.61765739A>G	VUS	1 lab	21574f6a33
18:43450679 EPG5 G>T	18	43450679	43450679	G	T	EPG5	c.6078C>A	NM_020964.3	NP_066015.2:p.(Ala2026=)	NC_000018.9:g.43450679G>T	(Likely) benign	1 lab	2159614118
X:84600868 POF1B G>A	X	84600868	84600868	G	A	POF1B	c.721C>T	NM_024921.3	NP_079197.3:p.(Gln241Ter)	NC_000023.10:g.84600868G>A	VUS	1 lab	2159fdabd4
7:92147515 PEX1 A>G	7	92147515	92147515	A	G	PEX1	c.412T>C	NM_000466.2	NP_000457.1:p.(Phe138Leu)	NC_000007.13:g.92147515A>G	VUS	1 lab	215c7a63ac
12:49689975 PRPH C>T	12	49689975	49689975	C	T	PRPH	c.560C>T	NM_006262.3	NP_006253.2:p.(Thr187Met)	NC_000012.11:g.49689975C>T	VUS	1 lab	215cecfe32
5:61669676 KIF2A A>G	5	61669676	61669676	A	G	KIF2A	c.1911+12A>G	NM_001098511.2	NP_001091981.1:p.?	NC_000005.9:g.61669676A>G	(Likely) benign	1 lab	215d1f0470
11:20622975 SLC6A5 G>A	11	20622975	20622975	G	A	SLC6A5	c.304G>A	NM_004211.5	NP_004202.4:p.(Gly102Ser)	NC_000011.9:g.20622975G>A	(Likely) benign	1 lab	e619342e69
16:2136280 TSC2 G>A	16	2136280	2136280	G	A	TSC2	c.4749G>A	NM_000548.3	NP_000539.2:p.(Glu1583=)	NC_000016.9:g.2136280G>A	(Likely) benign	1 lab	215e7c0f50
1:3712844 LRRC47 G>A	1	3712844	3712844	G	A	LRRC47	c.197C>T	NM_020710.3	NP_065761.1:p.(Pro66Leu)	NC_000001.10:g.3712844G>A	VUS	1 lab	215f5037af
17:76121318 TMC6 G>A	17	76121318	76121318	G	A	TMC6	c.457C>T	NM_001127198.2	NP_001120670.1:p.(Leu153Phe)	NC_000017.10:g.76121318G>A	(Likely) benign	1 lab	2161729a2e
11:76834811 CAPN5 C>T	11	76834811	76834811	C	T	CAPN5	c.1818C>T	NM_004055.4	NP_004046.2:p.(Ala606=)	NC_000011.9:g.76834811C>T	(Likely) benign	1 lab	21628e03aa
7:124481168 POT1 C>G	7	124481168	124481168	C	G	POT1	c.1228G>C	NM_015450.2	NP_056265.2:p.(Asp410His)	NC_000007.13:g.124481168C>G	(Likely) benign	1 lab	2164b3dcc0
3:49136823 QARS1 C>T	3	49136823	49136823	C	T	QARS1	c.1568G>A	NM_005051.2	NP_005042.1:p.(Arg523Gln)	NC_000003.11:g.49136823C>T	VUS	1 lab	216696e236
X:24833140 POLA1 T>C	X	24833140	24833140	T	C	POLA1	c.3323T>C	NM_016937.3	NP_058633.2:p.(Ile1108Thr)	NC_000023.10:g.24833140T>C	VUS	1 lab	21675d06aa
X:150791469 PASD1 G>A	X	150791469	150791469	G	A	PASD1	c.479G>A	NM_173493.2	NP_775764.2:p.(Cys160Tyr)	NC_000023.10:g.150791469G>A	(Likely) benign	1 lab	21687f1ee9
8:1719363 CLN8 C>G	8	1719363	1719363	C	G	CLN8	c.143C>G	NM_018941.3	NP_061764.2:p.(Ser48Cys)	NC_000008.10:g.1719363C>G	VUS	1 lab	216a071d6b
2:234731621 MROH2A C>T	2	234731621	234731621	C	T	MROH2A	c.3961C>T	NM_001367507.1	NP_001354436.1:p.(Gln1321Ter)	NC_000002.11:g.234731621C>T	VUS	1 lab	216a4d2112
2:166167058 SCN2A A>G	2	166167058	166167058	A	G	SCN2A	c.923A>G	NM_021007.2	NP_066287.2:p.(Asn308Ser)	NC_000002.11:g.166167058A>G	VUS	1 lab	216ca1b7ab
1:6528411 PLEKHG5 C>A	1	6528411	6528411	C	A	PLEKHG5	c.2716G>T	NM_198681.3	NP_941374.2:p.(Asp906Tyr)	NC_000001.10:g.6528411C>A	VUS	1 lab	216eacae52
15:91298126 BLM A>G	15	91298126	91298126	A	G	BLM	c.1045A>G	NM_001287246.1	NP_001274175.1:p.(Ser349Gly)	NC_000015.9:g.91298126A>G	VUS	1 lab	216efb1d0d
16:2149933 PKD1 G>A	16	2149933	2149933	G	A	PKD1	c.9852C>T	NM_001009944.2	NP_001009944.2:p.(Cys3284=)	NC_000016.9:g.2149933G>A	(Likely) benign	1 lab	216f1aa993
15:89848433 FANCI T>A	15	89848433	89848433	T	A	FANCI	c.3146T>A	NM_001113378.1	NP_001106849.1:p.(Leu1049Ter)	NC_000015.9:g.89848433T>A	(Likely) pathogenic	1 lab	2170316b5f
8:145738487 RECQL4 T>C	8	145738487	145738487	T	C	RECQL4	c.2498A>G	NM_004260.3	NP_004251.3:p.(His833Arg)	NC_000008.10:g.145738487T>C	VUS	1 lab	2170d4b2da
8:23186066 LOXL2 G>A	8	23186066	23186066	G	A	LOXL2	c.979C>T	NM_002318.2	NP_002309.1:p.(Arg327Ter)	NC_000008.10:g.23186066G>A	VUS	1 lab	21714064af
17:5461707 NLRP1 A>G	17	5461707	5461707	A	G	NLRP1	c.2309T>C	NM_033004.4	NP_127497.1:p.(Ile770Thr)	NC_000017.10:g.5461707A>G	(Likely) benign	1 lab	217230f983
12:76741275 BBS10 TTC>T	12	76741275	76741282	TTC	T	BBS10	c.488_489del	NM_024685.4	NP_078961.3:p.(Arg163AsnfsTer4)	NC_000012.11:g.76741281_76741282del	(Likely) pathogenic	1 lab	2173072cb7
X:68048925 EFNB1 C>T	X	68048925	68048925	C	T	EFNB1	c.-695C>T	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68048925C>T	(Likely) benign	1 lab	21735dc103
16:30998280 HSD3B7 C>T	16	30998280	30998280	C	T	HSD3B7	c.651C>T	NM_025193.3	NP_079469.2:p.(Phe217=)	NC_000016.9:g.30998280C>T	(Likely) benign	1 lab	2173bb6caf
16:16142015 ABCC1 A>G	16	16142015	16142015	A	G	ABCC1	c.1235A>G	NM_004996.3	NP_004987.2:p.(Asn412Ser)	NC_000016.9:g.16142015A>G	(Likely) benign	1 lab	2174cf3d78
6:144843136 UTRN G>A	6	144843136	144843136	G	A	UTRN	c.5562G>A	NM_007124.2	NP_009055.2:p.(Arg1854=)	NC_000006.11:g.144843136G>A	(Likely) benign	1 lab	21761c1dd7
7:151856047 KMT2C C>G	7	151856047	151856047	C	G	KMT2C	c.11571G>C	NM_170606.2	NP_733751.2:p.(Thr3857=)	NC_000007.13:g.151856047C>G	(Likely) benign	1 lab	217623053e
12:49427722 KMT2D G>C	12	49427722	49427722	G	C	KMT2D	c.10766C>G	NM_003482.3	NP_003473.3:p.(Thr3589Ser)	NC_000012.11:g.49427722G>C	VUS	1 lab	21766297c8
14:24709915 TINF2 G>A	14	24709915	24709915	G	A	TINF2	c.771C>T	NM_012461.2	NP_036593.2:p.(His257=)	NC_000014.8:g.24709915G>A	(Likely) benign	1 lab	2177d04e3c
6:157431662 ARID1B G>A	6	157431662	157431662	G	A	ARID1B	c.2299G>A	NM_001346813.1	NP_001333742.1:p.(Ala767Thr)	NC_000006.11:g.157431662G>A	(Likely) benign	1 lab	2178df4efa
13:103390287 LRTM3 C>T	13	103390287	103390287	C	T	LRTM3	c.12760G>A	NM_001146197.2	NP_001139669.1:p.(Gly4254Arg)	NC_000013.10:g.103390287C>T	VUS	1 lab	2178fb9ee9
1:109484129 CLCC1 C>T	1	109484129	109484129	C	T	CLCC1	c.703-9G>A	NM_001048210.2	NP_001041675.1:p.?	NC_000001.10:g.109484129C>T	(Likely) benign	1 lab	217a737302
12:124171489 TCTN2 C>T	12	124171489	124171489	C	T	TCTN2	c.671C>T	NM_024809.4	NP_079085.2:p.(Thr224Met)	NC_000012.11:g.124171489C>T	VUS	1 lab	217b56d6d5
7:100641337 MUC12 G>A	7	100641337	100641337	G	A	MUC12	c.7493G>A	NM_001164462.1	NP_001157934.1:p.(Ser2498Asn)	NC_000007.13:g.100641337G>A	VUS	1 lab	217bfad2aa
10:78872140 KCNMA1 G>A	10	78872140	78872140	G	A	KCNMA1	c.945C>T	NM_001014797.2	NP_001014797.1:p.(Ala315=)	NC_000010.10:g.78872140G>A	(Likely) benign	1 lab	217d916cb9
7:42017298 GLI3 G>A	7	42017298	42017298	G	A	GLI3	c.1671C>T	NM_000168.5	NP_000159.3:p.(Tyr557=)	NC_000007.13:g.42017298G>A	(Likely) benign	1 lab	217db69070
3:38592169 SCN5A G>C	3	38592169	38592169	G	C	SCN5A	c.5694C>G	NM_001099404.1	NP_001092874.1:p.(Arg1898=)	NC_000003.11:g.38592169G>C	(Likely) benign	1 lab	21811ebf80
16:2136809 TSC2 C>T	16	2136809	2136809	C	T	TSC2	c.4857C>T	NM_001114382.2	NP_001107854.1:p.(Gly1619=)	NC_000016.9:g.2136809C>T	(Likely) benign	1 lab	2183402cb2
11:57564073 CTNND1 G>A	11	57564073	57564073	G	A	CTNND1	c.565G>A	NM_001085458.2	NP_001078927.1:p.(Gly189Arg)	NC_000011.9:g.57564073G>A	VUS	1 lab	e627729228
13:96416169 DNAJC3 G>A	13	96416169	96416169	G	A	DNAJC3	c.1037G>A	NM_006260.4	NP_006251.1:p.(Arg346Gln)	NC_000013.10:g.96416169G>A	VUS	1 lab	2185305249
4:647733 PDE6B C>T	4	647733	647733	C	T	PDE6B	c.804C>T	NM_000283.3	NP_000274.2:p.(Leu268=)	NC_000004.11:g.647733C>T	(Likely) benign	1 lab	2186c62db4
6:152563401 SYNE1 T>C	6	152563401	152563401	T	C	SYNE1	c.19867A>G	NM_182961.3	NP_892006.3:p.(Ile6623Val)	NC_000006.11:g.152563401T>C	(Likely) benign	1 lab	21870296e9
20:47736643 STAU1 G>A	20	47736643	47736643	G	A	STAU1	c.989C>T	NM_017453.3	NP_059347.2:p.(Ala330Val)	NC_000020.10:g.47736643G>A	VUS	1 lab	2187149c52
2:233839563 NGEF C>T	2	233839563	233839563	C	T	NGEF	c.38G>A	NM_019850.3	NP_062824.2:p.(Arg13Gln)	NC_000002.11:g.233839563C>T	(Likely) benign	1 lab	218857cf61
17:29586049 NF1 G>A	17	29586049	29586049	G	A	NF1	c.4270-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29586049G>A	(Likely) pathogenic	1 lab	2189d5b21e
22:31008932 TCN2 C>T	22	31008932	31008932	C	T	TCN2	c.330C>T	NM_001184726.1	NP_001171655.1:p.(Leu110=)	NC_000022.10:g.31008932C>T	(Likely) benign	1 lab	218c199028
5:34950396 DNAJC21 G>C	5	34950396	34950396	G	C	DNAJC21	c.1442G>C	NM_194283.3	NP_919259.3:p.(Ser481Thr)	NC_000005.9:g.34950396G>C	(Likely) benign	1 lab	218d6b8556
X:153421952 OPN1LW T>A	X	153421952	153421952	T	A	OPN1LW	c.928T>A	NM_020061.5	NP_064445.2:p.(Phe310Ile)	NC_000023.10:g.153421952T>A	VUS	1 lab	218e1d1007
16:54967598 IRX5 A>G	16	54967598	54967598	A	G	IRX5	c.1265A>G	NM_005853.5	NP_005844.4:p.(His422Arg)	NC_000016.9:g.54967598A>G	VUS	1 lab	218f7f9531
4:8873204 HMX1 TCCTCGTCCTCCCGGCTGCCGTCGCCCTGGGTCGCGCGCCCTGCGCCCTTGG>T	4	8873204	8873260	TCCTCGTCCTCCCGGCTGCCGTCGCCCTGGGTCGCGCGCCCTGCGCCCTTGG	T	HMX1	c.86_136del	NM_018942.3	NP_061815.2:p.(Ala29_Glu45del)	NC_000004.11:g.8873210_8873260del	VUS	1 lab	21919e154c
9:135201934 SETX G>C	9	135201934	135201934	G	C	SETX	c.5051C>G	NM_015046.5	NP_055861.3:p.(Ser1684Cys)	NC_000009.11:g.135201934G>C	(Likely) benign	1 lab	219219d8e2
16:2140794 PKD1 G>A	16	2140794	2140794	G	A	PKD1	c.12019C>T	NM_001009944.2	NP_001009944.2:p.(Arg4007Cys)	NC_000016.9:g.2140794G>A	VUS	1 lab	2193572ccd
12:52882292 KRT6A C>T	12	52882292	52882292	C	T	KRT6A	c.1244G>A	NM_005554.4	NP_005545.1:p.(Arg415His)	NC_000012.11:g.52882292C>T	VUS	1 lab	e62d734da4
10:73567494 CDH23 C>A	10	73567494	73567494	C	A	CDH23	c.8530C>A	NM_022124.5	NP_071407.4:p.(Pro2844Thr)	NC_000010.10:g.73567494C>A	VUS	1 lab	219789e359
9:2718611 KCNV2 A>C	9	2718611	2718611	A	C	KCNV2	c.872A>C	NM_133497.3	NP_598004.1:p.(Gln291Pro)	NC_000009.11:g.2718611A>C	VUS	1 lab	21978ae581
1:150531023 ADAMTSL4 C>T	1	150531023	150531023	C	T	ADAMTSL4	c.2526C>T	NM_001288608.1	NP_001275537.1:p.(Ser842=)	NC_000001.10:g.150531023C>T	(Likely) benign	1 lab	21980412a5
6:143081572 HIVEP2 G>A	6	143081572	143081572	G	A	HIVEP2	c.5853C>T	NM_006734.3	NP_006725.3:p.(Gly1951=)	NC_000006.11:g.143081572G>A	(Likely) benign	1 lab	219cd13ee6
14:23859458 MYH6 C>T	14	23859458	23859458	C	T	MYH6	c.3540G>A	NM_002471.3	NP_002462.2:p.(Leu1180=)	NC_000014.8:g.23859458C>T	(Likely) benign	1 lab	219e44698a
5:149631542 CAMK2A C>T	5	149631542	149631542	C	T	CAMK2A	c.598+3G>A	NM_001363989.1	NP_001350918.1:p.?	NC_000005.9:g.149631542C>T	(Likely) benign	1 lab	219f81e0fd
20:422243 TBC1D20 G>A	20	422243	422243	G	A	TBC1D20	c.615C>T	NM_144628.3	NP_653229.1:p.(Asp205=)	NC_000020.10:g.422243G>A	(Likely) benign	1 lab	219fede403
12:52681822 KRT81 A>T	12	52681822	52681822	A	T	KRT81	c.846T>A	NM_002281.3	NP_002272.2:p.(Tyr282Ter)	NC_000012.11:g.52681822A>T	(Likely) benign	1 lab	21a0794816
15:42684908 CAPN3 G>A	15	42684908	42684908	G	A	CAPN3	c.1017G>A	NM_000070.2	NP_000061.1:p.(Thr339=)	NC_000015.9:g.42684908G>A	(Likely) benign	1 lab	21a11c4fd7
6:80837254 BCKDHB A>T	6	80837254	80837254	A	T	BCKDHB	c.197-10A>T	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80837254A>T	(Likely) benign	1 lab	21a3a298c4
19:59022705 SLC27A5 C>T	19	59022705	59022705	C	T	SLC27A5	c.618G>A	NM_012254.2	NP_036386.1:p.(Pro206=)	NC_000019.9:g.59022705C>T	(Likely) benign	1 lab	21a3d31093
20:32264747 E2F1 C>T	20	32264747	32264747	C	T	E2F1	c.1105G>A	NM_005225.2	NP_005216.1:p.(Val369Met)	NC_000020.10:g.32264747C>T	(Likely) benign	1 lab	21a444775d
13:108861662 LIG4 A>C	13	108861662	108861662	A	C	LIG4	c.1955T>G	NM_002312.3	NP_002303.2:p.(Val652Gly)	NC_000013.10:g.108861662A>C	VUS	1 lab	21a7008352
X:66863195 AR T>C	X	66863195	66863195	T	C	AR	c.1714T>C	NM_000044.4	NP_000035.2:p.(Tyr572His)	NC_000023.10:g.66863195T>C	(Likely) pathogenic	1 lab	21b7e7d117
4:126237849 FAT4 A>T	4	126237849	126237849	A	T	FAT4	c.283A>T	NM_001291303.1	NP_001278232.1:p.(Thr95Ser)	NC_000004.11:g.126237849A>T	(Likely) benign	1 lab	21a8aa7e4c
1:103488351 COL11A1 TA>T	1	103488351	103488352	TA	T	COL11A1	c.1191del	NM_001854.4	NP_001845.3:p.(Asn398MetfsTer19)	NC_000001.10:g.103488352del	(Likely) pathogenic	1 lab	21a8abd255
11:1263812 MUC5B C>T	11	1263812	1263812	C	T	MUC5B	c.5702C>T	NM_002458.2	NP_002449.2:p.(Pro1901Leu)	NC_000011.9:g.1263812C>T	(Likely) benign	1 lab	21a97e18e3
X:46529129 SLC9A7 G>A	X	46529129	46529129	G	A	SLC9A7	c.706C>T	NM_032591.2	NP_115980.1:p.(Leu236Phe)	NC_000023.10:g.46529129G>A	VUS	1 lab	21a99eea94
4:111539489 PITX2 C>T	4	111539489	111539489	C	T	PITX2	c.746G>A	NM_001204397.1	NP_001191326.1:p.(Ser249Asn)	NC_000004.11:g.111539489C>T	VUS	1 lab	e62e4bd727
11:4103418 STIM1 G>A	11	4103418	4103418	G	A	STIM1	c.974G>A	NM_001277961.1	NP_001264890.1:p.(Arg325Gln)	NC_000011.9:g.4103418G>A	VUS	1 lab	21aa804e83
20:34091128 CEP250 G>A	20	34091128	34091128	G	A	CEP250	c.4931G>A	NM_007186.5	NP_009117.2:p.(Arg1644Lys)	NC_000020.10:g.34091128G>A	(Likely) benign	1 lab	21abb39421
X:130219643 ARHGAP36 G>A	X	130219643	130219643	G	A	ARHGAP36	c.1037G>A	NM_144967.4	NP_659404.2:p.(Arg346His)	NC_000023.10:g.130219643G>A	VUS	1 lab	21ac0c1bbc
22:38131275 TRIOBP C>T	22	38131275	38131275	C	T	TRIOBP	c.4932C>T	NM_001039141.2	NP_001034230.1:p.(Pro1644=)	NC_000022.10:g.38131275C>T	(Likely) benign	1 lab	21ac7337a8
21:46931156 COL18A1 C>T	21	46931156	46931156	C	T	COL18A1	c.3800+16C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46931156C>T	(Likely) benign	1 lab	21ad0e7892
8:118825174 EXT1 G>A	8	118825174	118825174	G	A	EXT1	c.1659C>T	NM_000127.2	NP_000118.2:p.(Tyr553=)	NC_000008.10:g.118825174G>A	(Likely) benign	1 lab	21ad58d5cf
4:89039366 ABCG2 G>A	4	89039366	89039366	G	A	ABCG2	c.736C>T	NM_001348985.1	NP_001335914.1:p.(Arg246Ter)	NC_000004.11:g.89039366G>A	VUS	1 lab	21ad8c756d
6:87968683 ZNF292 G>A	6	87968683	87968683	G	A	ZNF292	c.4916G>A	NM_001351444.1	NP_001338373.1:p.(Gly1639Asp)	NC_000006.11:g.87968683G>A	(Likely) benign	1 lab	21af31f446
18:67866667 RTTN G>T	18	67866667	67866667	G	T	RTTN	c.561C>A	NM_173630.3	NP_775901.3:p.(Val187=)	NC_000018.9:g.67866667G>T	(Likely) benign	1 lab	21af3c3326
17:33477173 UNC45B C>T	17	33477173	33477173	C	T	UNC45B	c.312C>T	NM_001033576.1	NP_001028748.1:p.(Ala104=)	NC_000017.10:g.33477173C>T	(Likely) benign	1 lab	21b01c3d0c
2:220283422 DES CCCT>C	2	220283422	220283431	CCCT	C	DES	c.245_247del	NM_001927.4	NP_001918.3:p.(Ser82del)	NC_000002.11:g.220283429_220283431del	VUS	1 lab	21b0d8cecb
17:76120069 TMC6 C>T	17	76120069	76120069	C	T	TMC6	c.1082+1G>A	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76120069C>T	VUS	1 lab	21b104ad53
1:16462218 EPHA2 C>T	1	16462218	16462218	C	T	EPHA2	c.1360G>A	NM_004431.4	NP_004422.2:p.(Val454Ile)	NC_000001.10:g.16462218C>T	VUS	1 lab	21b1bdb1ba
9:139906016 ABCA2 G>A	9	139906016	139906016	G	A	ABCA2	c.5742-10C>T	NM_212533.2	NP_997698.1:p.?	NC_000009.11:g.139906016G>A	(Likely) benign	1 lab	21b248db1b
7:117180330 CFTR C>T	7	117180330	117180330	C	T	CFTR	c.1046C>T	NM_000492.3	NP_000483.3:p.(Ala349Val)	NC_000007.13:g.117180330C>T	VUS	1 lab	21b2cf4d2d
1:111146013 KCNA2 A>C	1	111146013	111146013	A	C	KCNA2	c.1392T>G	NM_004974.3	NP_004965.1:p.(Gly464=)	NC_000001.10:g.111146013A>C	(Likely) benign	1 lab	21b381434a
17:29652973 NF1 CTT>C	17	29652973	29652976	CTT	C	NF1	c.4973_4974del	NM_001042492.3	NP_001035957.1:p.(Phe1658SerfsTer3)	NC_000017.10:g.29652975_29652976del	(Likely) pathogenic	1 lab	21b51594a2
16:2137892 TSC2 T>A	16	2137892	2137892	T	A	TSC2	c.5018T>A	NM_000548.3	NP_000539.2:p.(Val1673Asp)	NC_000016.9:g.2137892T>A	(Likely) pathogenic	1 lab	21b677bc1e
1:198700785 PTPRC C>G	1	198700785	198700785	C	G	PTPRC	c.1904C>G	NM_002838.4	NP_002829.3:p.(Ala635Gly)	NC_000001.10:g.198700785C>G	(Likely) benign	1 lab	21b953a1ec
X:153297880 MECP2 T>C	X	153297880	153297880	T	C	MECP2	c.155A>G	NM_004992.3	NP_004983.1:p.(His52Arg)	NC_000023.10:g.153297880T>C	(Likely) benign	1 lab	21b977e081
3:197427600 RUBCN C>A	3	197427600	197427600	C	A	RUBCN	c.965G>T	NM_001145642.4	NP_001139114.1:p.(Ser322Ile)	NC_000003.11:g.197427600C>A	(Likely) benign	1 lab	21ba1114dd
13:52531663 ATP7B A>G	13	52531663	52531663	A	G	ATP7B	c.2436T>C	NM_000053.3	NP_000044.2:p.(Asn812=)	NC_000013.10:g.52531663A>G	(Likely) benign	1 lab	21bad600a7
11:1651285 KRTAP5-5 T>C	11	1651285	1651285	T	C	KRTAP5-5	c.215T>C	NM_001001480.2	NP_001001480.2:p.(Met72Thr)	NC_000011.9:g.1651285T>C	(Likely) benign	1 lab	21be5364cb
9:140057133 GRIN1 C>A	9	140057133	140057133	C	A	GRIN1	c.1955C>A	NM_007327.3	NP_015566.1:p.(Ala652Glu)	NC_000009.11:g.140057133C>A	VUS	1 lab	21bf52290a
17:39912031 JUP G>A	17	39912031	39912031	G	A	JUP	c.2203C>T	NM_021991.2	NP_068831.1:p.(Pro735Ser)	NC_000017.10:g.39912031G>A	(Likely) benign	1 lab	21c055260a
16:50733743 NOD2 G>A	16	50733743	50733743	G	A	NOD2	c.418G>A	NM_022162.1	NP_071445.1:p.(Ala140Thr)	NC_000016.9:g.50733743G>A	(Likely) benign	1 lab	21c0dceaf1
19:48664717 LIG1 G>A	19	48664717	48664717	G	A	LIG1	c.155C>T	NM_001320970.1	NP_001307899.1:p.(Pro52Leu)	NC_000019.9:g.48664717G>A	VUS	1 lab	21c35ebd7e
4:183600915 TENM3 G>A	4	183600915	183600915	G	A	TENM3	c.1423G>A	NM_001080477.3	NP_001073946.1:p.(Val475Ile)	NC_000004.11:g.183600915G>A	(Likely) benign	1 lab	21c44fd933
15:31294404 TRPM1 G>A	15	31294404	31294404	G	A	TRPM1	c.4550C>T	NM_001252020.1	NP_001238949.1:p.(Thr1517Met)	NC_000015.9:g.31294404G>A	VUS	1 lab	21c4844de7
16:2546474 TBC1D24 C>T	16	2546474	2546474	C	T	TBC1D24	c.325C>T	NM_001199107.2	NP_001186036.1:p.(Arg109Cys)	NC_000016.9:g.2546474C>T	VUS	1 lab	e62f848c0a
16:53686655 RPGRIP1L C>T	16	53686655	53686655	C	T	RPGRIP1L	c.1944G>A	NM_015272.4	NP_056087.2:p.(Val648=)	NC_000016.9:g.53686655C>T	(Likely) benign	1 lab	21c5fa49cf
6:170627775 FAM120B C>G	6	170627775	170627775	C	G	FAM120B	c.1333C>G	NM_001286379.1	NP_001273308.1:p.(Pro445Ala)	NC_000006.11:g.170627775C>G	(Likely) benign	1 lab	21c6a213b9
11:824777 PNPLA2 C>T	11	824777	824777	C	T	PNPLA2	c.1430C>T	NM_020376.3	NP_065109.1:p.(Pro477Leu)	NC_000011.9:g.824777C>T	(Likely) benign	1 lab	21cb4dbdf5
16:31475992 ARMC5 G>A	16	31475992	31475992	G	A	ARMC5	c.1648G>A	NM_024742.2	NP_079018.1:p.(Gly550Ser)	NC_000016.9:g.31475992G>A	VUS	1 lab	21cbbdd5a7
3:47385371 KLHL18 C>T	3	47385371	47385371	C	T	KLHL18	c.1665C>T	NM_025010.5	NP_079286.2:p.(Ala555=)	NC_000003.11:g.47385371C>T	(Likely) benign	1 lab	21ce4b6781
7:1538733 INTS1 G>A	7	1538733	1538733	G	A	INTS1	c.1015C>T	NM_001080453.3	NP_001073922.2:p.(Arg339Trp)	NC_000007.13:g.1538733G>A	VUS	1 lab	21ce934c02
15:43044919 TTBK2 T>C	15	43044919	43044919	T	C	TTBK2	c.2525A>G	NM_173500.3	NP_775771.3:p.(Glu842Gly)	NC_000015.9:g.43044919T>C	(Likely) benign	1 lab	21d0dcc084
13:114535337 GAS6 G>A	13	114535337	114535337	G	A	GAS6	c.1078C>T	NM_000820.3	NP_000811.1:p.(Arg360Cys)	NC_000013.10:g.114535337G>A	VUS	1 lab	21d15d6bf9
16:49669865 ZNF423 G>A	16	49669865	49669865	G	A	ZNF423	c.3018C>T	NM_001271620.2	NP_001258549.1:p.(Cys1006=)	NC_000016.9:g.49669865G>A	(Likely) benign	1 lab	21d2ef90c3
8:82605939 SLC10A5 T>A	8	82605939	82605939	T	A	SLC10A5	c.1269A>T	NM_001010893.2	NP_001010893.1:p.(Arg423Ser)	NC_000008.10:g.82605939T>A	(Likely) benign	1 lab	21d399e3e6
3:49700527 BSN C>T	3	49700527	49700527	C	T	BSN	c.10936C>T	NM_003458.3	NP_003449.2:p.(Arg3646Trp)	NC_000003.11:g.49700527C>T	VUS	1 lab	21d4382cb2
2:179437786 TTN T>A	2	179437786	179437786	T	A	TTN	c.73073A>T	NM_001267550.1	NP_001254479.1:p.(Tyr24358Phe)	NC_000002.11:g.179437786T>A	VUS	1 lab	21d64e95ed
3:136046015 PCCB G>GTA	3	136046015	136046016	G	GTA	PCCB	c.1277_1278insTA	NM_001178014.1	NP_001171485.1:p.(Gly427ArgfsTer37)	NC_000003.11:g.136046015_136046016insTA	(Likely) pathogenic	1 lab	21d70c5f12
5:140960460 DIAPH1 C>A	5	140960460	140960460	C	A	DIAPH1	c.685-10G>T	NM_001314007.1	NP_001300936.1:p.?	NC_000005.9:g.140960460C>A	(Likely) benign	1 lab	21d8a6d8ab
13:23907347 SACS C>T	13	23907347	23907347	C	T	SACS	c.10668G>A	NM_014363.5	NP_055178.3:p.(Leu3556=)	NC_000013.10:g.23907347C>T	(Likely) benign	1 lab	21d8f48c2c
19:40875856 PLD3 G>A	19	40875856	40875856	G	A	PLD3	c.471G>A	NM_012268.3	NP_036400.2:p.(Lys157=)	NC_000019.9:g.40875856G>A	(Likely) benign	1 lab	21daa319b1
X:48370793 PORCN G>A	X	48370793	48370793	G	A	PORCN	c.240G>A	NM_001282167.1	NP_001269096.1:p.(Ser80=)	NC_000023.10:g.48370793G>A	(Likely) benign	1 lab	21dcc5497c
6:144835942 UTRN A>C	6	144835942	144835942	A	C	UTRN	c.5230A>C	NM_007124.2	NP_009055.2:p.(Ile1744Leu)	NC_000006.11:g.144835942A>C	VUS	1 lab	21de0f55b8
9:94985652 IARS1 G>A	9	94985652	94985652	G	A	IARS1	c.3529C>T	NM_013417.3	NP_038203.2:p.(Gln1177Ter)	NC_000009.11:g.94985652G>A	(Likely) pathogenic	1 lab	21de2adda2
3:49059582 NDUFAF3 C>T	3	49059582	49059582	C	T	NDUFAF3	c.5C>T	NM_199069.1	NP_951032.1:p.(Ala2Val)	NC_000003.11:g.49059582C>T	(Likely) benign	1 lab	21de480b56
14:105417002 AHNAK2 T>G	14	105417002	105417002	T	G	AHNAK2	c.4786A>C	NM_138420.3	NP_612429.2:p.(Ile1596Leu)	NC_000014.8:g.105417002T>G	(Likely) benign	1 lab	21de8deead
3:30713868 TGFBR2 T>G	3	30713868	30713868	T	G	TGFBR2	c.1268T>G	NM_001024847.2	NP_001020018.1:p.(Phe423Cys)	NC_000003.11:g.30713868T>G	VUS	1 lab	21dfe151a4
11:129727331 TMEM45B G>A	11	129727331	129727331	G	A	TMEM45B	c.694G>A	NM_001331210.1	NP_001318139.1:p.(Val232Ile)	NC_000011.9:g.129727331G>A	(Likely) benign	1 lab	21e0f56788
12:48374360 COL2A1 G>A	12	48374360	48374360	G	A	COL2A1	c.2602C>T	NM_001844.4	NP_001835.3:p.(Pro868Ser)	NC_000012.11:g.48374360G>A	VUS	1 lab	21e1a173cf
8:95654174 ESRP1 A>G	8	95654174	95654174	A	G	ESRP1	c.133-10A>G	NM_001034915.2	NP_001030087.2:p.?	NC_000008.10:g.95654174A>G	(Likely) benign	1 lab	21e31641a1
7:146997203 CNTNAP2 T>A	7	146997203	146997203	T	A	CNTNAP2	c.1349-30T>A	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.146997203T>A	(Likely) benign	1 lab	21e31fa321
X:41202004 DDX3X G>T	X	41202004	41202004	G	T	DDX3X	c.458G>T	NM_001356.4	NP_001347.3:p.(Gly153Val)	NC_000023.10:g.41202004G>T	VUS	1 lab	21e47d9f69
20:44522651 CTSA C>T	20	44522651	44522651	C	T	CTSA	c.717C>T	NM_001127695.2	NP_001121167.1:p.(His239=)	NC_000020.10:g.44522651C>T	(Likely) benign	1 lab	21e5b720a8
3:196210686 RNF168 T>G	3	196210686	196210686	T	G	RNF168	c.635A>C	NM_152617.3	NP_689830.2:p.(Glu212Ala)	NC_000003.11:g.196210686T>G	(Likely) benign	1 lab	21e5feb19d
16:81942022 PLCG2 A>G	16	81942022	81942022	A	G	PLCG2	c.1559A>G	NM_002661.3	NP_002652.2:p.(Asp520Gly)	NC_000016.9:g.81942022A>G	(Likely) benign	1 lab	21e6d0b931
3:142232392 ATR T>C	3	142232392	142232392	T	C	ATR	c.4592A>G	NM_001184.3	NP_001175.2:p.(His1531Arg)	NC_000003.11:g.142232392T>C	VUS	1 lab	21e7e0ab27
2:74598275 DCTN1 C>T	2	74598275	74598275	C	T	DCTN1	c.674G>A	NM_004082.4	NP_004073.2:p.(Arg225Gln)	NC_000002.11:g.74598275C>T	VUS	1 lab	21ea44cff1
3:128628983 ACAD9 C>T	3	128628983	128628983	C	T	ACAD9	c.1683C>T	NM_014049.4	NP_054768.2:p.(His561=)	NC_000003.11:g.128628983C>T	(Likely) benign	1 lab	21ea9b97b9
3:123444761 MYLK G>A	3	123444761	123444761	G	A	MYLK	c.1651+30C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123444761G>A	(Likely) benign	1 lab	21ea9cc363
20:37634955 DHX35 G>A	20	37634955	37634955	G	A	DHX35	c.1178G>A	NM_021931.4	NP_068750.2:p.(Arg393His)	NC_000020.10:g.37634955G>A	VUS	1 lab	21ebfef3e7
1:200587500 KIF14 G>A	1	200587500	200587500	G	A	KIF14	c.352C>T	NM_014875.2	NP_055690.1:p.(Arg118Cys)	NC_000001.10:g.200587500G>A	(Likely) benign	1 lab	21ec8f1d11
17:71391349 SDK2 G>A	17	71391349	71391349	G	A	SDK2	c.3537C>T	NM_001144952.2	NP_001138424.1:p.(Asn1179=)	NC_000017.10:g.71391349G>A	(Likely) benign	1 lab	21edc2a782
11:47371813 MYBPC3 C>T	11	47371813	47371813	C	T	MYBPC3	c.407-150G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371813C>T	(Likely) benign	1 lab	3f4dd79ec1
X:39921414 BCOR C>T	X	39921414	39921414	C	T	BCOR	c.4406G>A	NM_001123385.1	NP_001116857.1:p.(Arg1469Gln)	NC_000023.10:g.39921414C>T	VUS	1 lab	21ee408c11
9:79853284 VPS13A C>T	9	79853284	79853284	C	T	VPS13A	c.1882C>T	NM_033305.2	NP_150648.2:p.(Arg628Cys)	NC_000009.11:g.79853284C>T	VUS	1 lab	21f0122fa4
6:157469883 ARID1B GCTGTGCCCCTGGGA>G	6	157469883	157469898	GCTGTGCCCCTGGGA	G	ARID1B	c.2889_2902del	NM_001374828.1	NP_001361757.1:p.(Val964AsnfsTer43)	NC_000006.11:g.157469885_157469898del	(Likely) pathogenic	1 lab	21f1ff4490
3:168806811 MECOM A>G	3	168806811	168806811	A	G	MECOM	c.2971T>C	NM_001164000.1	NP_001157472.1:p.(Leu991=)	NC_000003.11:g.168806811A>G	(Likely) benign	1 lab	21f47e140d
6:42096475 C6orf132 C>T	6	42096475	42096475	C	T	C6orf132	c.187G>A	NM_001164446.3	NP_001157918.1:p.(Glu63Lys)	NC_000006.11:g.42096475C>T	VUS	1 lab	21f48042ed
3:38592094 SCN5A A>C	3	38592094	38592094	A	C	SCN5A	c.5769T>G	NM_001099404.1	NP_001092874.1:p.(His1923Gln)	NC_000003.11:g.38592094A>C	(Likely) benign	1 lab	21f70549dd
X:151900290 MAGEA12 G>A	X	151900290	151900290	G	A	MAGEA12	c.511C>T	NM_001166386.3	NP_001159858.1:p.(Arg171Cys)	NC_000023.10:g.151900290G>A	VUS	1 lab	21f7e1a1dd
13:103525642 ERCC5 G>A	13	103525642	103525642	G	A	ERCC5	c.2913G>A	NM_000123.3	NP_000114.2:p.(Thr971=)	NC_000013.10:g.103525642G>A	(Likely) benign	1 lab	21f891c83d
14:105420733 AHNAK2 C>T	14	105420733	105420733	C	T	AHNAK2	c.1055G>A	NM_138420.3	NP_612429.2:p.(Arg352His)	NC_000014.8:g.105420733C>T	(Likely) benign	1 lab	21f966fbf6
5:150920307 FAT2 G>T	5	150920307	150920307	G	T	FAT2	c.8860C>A	NM_001447.2	NP_001438.1:p.(Gln2954Lys)	NC_000005.9:g.150920307G>T	VUS	1 lab	21f9cb7f25
11:6651933 DCHS1 T>C	11	6651933	6651933	T	C	DCHS1				NC_000011.9:g.6651933T>C	(Likely) benign	1 lab	21f9f97214
17:79219954 SLC38A10 G>A	17	79219954	79219954	G	A	SLC38A10	c.2762C>T	NM_001037984.3	NP_001033073.1:p.(Thr921Met)	NC_000017.10:g.79219954G>A	(Likely) benign	1 lab	21fb21e4b4
6:129781404 LAMA2 C>T	6	129781404	129781404	C	T	LAMA2	c.6927C>T	NM_000426.3	NP_000417.2:p.(Asp2309=)	NC_000006.11:g.129781404C>T	(Likely) benign	1 lab	21fea7c968
1:228461568 OBSCN C>G	1	228461568	228461568	C	G	OBSCN	c.6360C>G	NM_001271223.2	NP_001258152.2:p.(Pro2120=)	NC_000001.10:g.228461568C>G	(Likely) benign	1 lab	21fedf5c7e
17:29533245 NF1 T>A	17	29533245	29533245	T	A	NF1	c.1261-13T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533245T>A	(Likely) pathogenic	1 lab	21ff631394
19:3982785 EEF2 C>T	19	3982785	3982785	C	T	EEF2	c.612+20G>A	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3982785C>T	(Likely) benign	1 lab	2204148956
2:152291995 RIF1 C>G	2	152291995	152291995	C	G	RIF1	c.1096C>G	NM_001177665.1	NP_001171136.1:p.(Gln366Glu)	NC_000002.11:g.152291995C>G	VUS	1 lab	2204b24dc4
1:6537576 PLEKHG5 C>T	1	6537576	6537576	C	T	PLEKHG5	c.43+13G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6537576C>T	(Likely) benign	1 lab	3f5003c87e
3:19938289 EFHB G>A	3	19938289	19938289	G	A	EFHB	c.1615C>T	NM_144715.4	NP_653316.3:p.(Arg539Ter)	NC_000003.11:g.19938289G>A	VUS	1 lab	22058b2953
5:90079681 ADGRV1 T>A	5	90079681	90079681	T	A	ADGRV1	c.13460T>A	NM_032119.4	NP_115495.3:p.(Leu4487Gln)	NC_000005.9:g.90079681T>A	(Likely) benign	1 lab	2205bab73d
13:102379088 FGF14 A>G	13	102379088	102379088	A	G	FGF14	c.496T>C	NM_175929.2	NP_787125.1:p.(Leu166=)	NC_000013.10:g.102379088A>G	(Likely) benign	1 lab	2205f7619a
22:26864522 HPS4 C>T	22	26864522	26864522	C	T	HPS4	c.664G>A	NM_001349898.1	NP_001336827.1:p.(Glu222Lys)	NC_000022.10:g.26864522C>T	VUS	1 lab	22071ec45e
15:23889752 MAGEL2 C>G	15	23889752	23889752	C	G	MAGEL2	c.3138G>C	NM_019066.4	NP_061939.3:p.(Met1046Ile)	NC_000015.9:g.23889752C>G	VUS	1 lab	2207fce358
16:15847268 MYH11 G>C	16	15847268	15847268	G	C	MYH11	c.1868C>G	NM_001040113.1	NP_001035202.1:p.(Ala623Gly)	NC_000016.9:g.15847268G>C	(Likely) benign	1 lab	220828085e
9:114341239 PTGR1 GA>G	9	114341239	114341254	GA	G	PTGR1	c.496-9del	NM_001146108.2	NP_001139580.1:p.?	NC_000009.11:g.114341254del	(Likely) benign	1 lab	22089a62ab
X:135445647 ADGRG4 T>A	X	135445647	135445647	T	A	ADGRG4	c.7289T>A	NM_153834.3	NP_722576.3:p.(Ile2430Asn)	NC_000023.10:g.135445647T>A	(Likely) benign	1 lab	2208d698db
18:43532601 EPG5 A>G	18	43532601	43532601	A	G	EPG5	c.1017T>C	NM_020964.3	NP_066015.2:p.(Cys339=)	NC_000018.9:g.43532601A>G	(Likely) benign	1 lab	220a182b17
21:19666616 TMPRSS15 C>T	21	19666616	19666616	C	T	TMPRSS15	c.2457G>A	NM_002772.2	NP_002763.2:p.(Trp819Ter)	NC_000021.8:g.19666616C>T	(Likely) pathogenic	1 lab	220a52ec79
12:53070121 KRT1 T>G	12	53070121	53070121	T	G	KRT1	c.1413A>C	NM_006121.4	NP_006112.3:p.(Thr471=)	NC_000012.11:g.53070121T>G	(Likely) benign	1 lab	e63859c1da
X:83599449 HDX C>T	X	83599449	83599449	C	T	HDX	c.1469G>A	NM_001177479.2	NP_001170950.1:p.(Arg490Gln)	NC_000023.10:g.83599449C>T	VUS	1 lab	220cd0e8d5
16:88744881 SNAI3 T>C	16	88744881	88744881	T	C	SNAI3	c.854A>G	NM_178310.4	NP_840101.1:p.(Glu285Gly)	NC_000016.9:g.88744881T>C	(Likely) benign	1 lab	220d46a155
16:10997586 CIITA A>G	16	10997586	10997586	A	G	CIITA	c.776-2A>G	NM_001286402.1	NP_001273331.1:p.?	NC_000016.9:g.10997586A>G	(Likely) pathogenic	1 lab	220d67011c
16:3586210 CLUAP1 C>T	16	3586210	3586210	C	T	CLUAP1	c.1181C>T	NM_015041.2	NP_055856.1:p.(Thr394Ile)	NC_000016.9:g.3586210C>T	(Likely) benign	1 lab	2211155493
14:23894010 MYH7 C>T	14	23894010	23894010	C	T	MYH7	c.2647G>A	NM_000257.2	NP_000248.2:p.(Glu883Lys)	NC_000014.8:g.23894010C>T	VUS	1 lab	2211249448
1:63044587 DOCK7 G>A	1	63044587	63044587	G	A	DOCK7	c.1922C>T	NM_001367561.1	NP_001354490.1:p.(Thr641Ile)	NC_000001.10:g.63044587G>A	VUS	1 lab	2212400642
14:104029307 COA8 C>G	14	104029307	104029307	C	G	COA8	c.8C>G	NM_032374.4	NP_115750.2:p.(Pro3Arg)	NC_000014.8:g.104029307C>G	VUS	1 lab	22127bd8c5
2:16082297 MYCN C>A	2	16082297	16082297	C	A	MYCN	c.111C>A	NM_001293228.1	NP_001280157.1:p.(Phe37Leu)	NC_000002.11:g.16082297C>A	(Likely) benign	1 lab	2214eaddbb
2:239037394 ESPNL C>T	2	239037394	239037394	C	T	ESPNL	c.1262C>T	NM_194312.4	NP_919288.2:p.(Ala421Val)	NC_000002.11:g.239037394C>T	(Likely) benign	1 lab	2216f53915
18:44104434 LOXHD1 C>G	18	44104434	44104434	C	G	LOXHD1	c.4871G>C	NM_144612.6	NP_653213.6:p.(Gly1624Ala)	NC_000018.9:g.44104434C>G	VUS	1 lab	221b503a0c
X:57619780 ZXDB A>G	X	57619780	57619780	A	G	ZXDB	c.1299A>G	NM_007157.3	NP_009088.1:p.(Lys433=)	NC_000023.10:g.57619780A>G	(Likely) benign	1 lab	221cac3e2d
X:122757141 THOC2 G>A	X	122757141	122757141	G	A	THOC2	c.3504-7C>T	NM_001081550.1	NP_001075019.1:p.?	NC_000023.10:g.122757141G>A	(Likely) benign	1 lab	221d673738
20:34054825 CEP250 G>A	20	34054825	34054825	G	A	CEP250	c.527G>A	NM_007186.5	NP_009117.2:p.(Arg176His)	NC_000020.10:g.34054825G>A	VUS	1 lab	221e0f729d
5:56111641 MAP3K1 G>T	5	56111641	56111641	G	T	MAP3K1	c.241G>T	NM_005921.1	NP_005912.1:p.(Ala81Ser)	NC_000005.9:g.56111641G>T	(Likely) benign	1 lab	221e57acdc
10:55582192 PCDH15 AGAGGAGCAGGAGCAG>A	10	55582192	55582213	AGAGGAGCAGGAGCAG	A	PCDH15	c.4368-2217_4368-2203del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55582199_55582213del	VUS	1 lab	221e81db1d
6:152652023 SYNE1 A>G	6	152652023	152652023	A	G	SYNE1	c.13797T>C	NM_182961.3	NP_892006.3:p.(His4599=)	NC_000006.11:g.152652023A>G	(Likely) benign	1 lab	221ecc3530
20:13763150 ESF1 C>A	20	13763150	13763150	C	A	ESF1	c.637G>T	NM_016649.3	NP_057733.2:p.(Val213Leu)	NC_000020.10:g.13763150C>A	VUS	1 lab	221f3a9ff4
2:179438228 TTN A>T	2	179438228	179438228	A	T	TTN	c.72631T>A	NM_001267550.1	NP_001254479.1:p.(Ser24211Thr)	NC_000002.11:g.179438228A>T	VUS	1 lab	221f58bc3d
12:124798997 RFLNA T>C	12	124798997	124798997	T	C	RFLNA	c.334T>C	NM_181709.4	NP_859060.3:p.(Trp112Arg)	NC_000012.11:g.124798997T>C	VUS	1 lab	2220a3ec8a
19:5657253 SAFB C>T	19	5657253	5657253	C	T	SAFB	c.1757C>T	NM_001201339.1	NP_001188268.1:p.(Ala586Val)	NC_000019.9:g.5657253C>T	(Likely) benign	1 lab	22214eb43a
11:118360967 KMT2A A>G	11	118360967	118360967	A	G	KMT2A	c.4696+3A>G	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118360967A>G	VUS	1 lab	222333fd1d
3:38938381 SCN11A CAAT>C	3	38938381	38938384	CAAT	C	SCN11A	c.2355_2357del	NM_001349253.2	NP_001336182.1:p.(Leu786del)	NC_000003.11:g.38938382_38938384del	VUS	1 lab	22248f5a8e
2:189854138 COL3A1 C>CT	2	189854138	189854139	C	CT	COL3A1	c.654dup	NM_000090.3	NP_000081.1:p.(Gly219TrpfsTer17)	NC_000002.11:g.189854139dup	(Likely) pathogenic	1 lab	2225f2a820
6:146720182 GRM1 G>A	6	146720182	146720182	G	A	GRM1	c.2007G>A	NM_001278065.1	NP_001264994.1:p.(Ala669=)	NC_000006.11:g.146720182G>A	(Likely) benign	1 lab	2228af2ba0
17:48247650 SGCA G>C	17	48247650	48247650	G	C	SGCA	c.894G>C	NM_000023.2	NP_000014.1:p.(Leu298=)	NC_000017.10:g.48247650G>C	(Likely) benign	1 lab	2228c3e1aa
16:2104307 TSC2 T>TG	16	2104307	2104312	T	TG	TSC2	c.352dup	NM_000548.3	NP_000539.2:p.(Val118GlyfsTer8)	NC_000016.9:g.2104312dup	(Likely) pathogenic	1 lab	2229577b59
22:32269243 DEPDC5 CT>C	22	32269243	32269244	CT	C	DEPDC5	c.3489del	NM_001242896.3	NP_001229825.1:p.(Gln1164SerfsTer8)	NC_000022.10:g.32269244del	(Likely) pathogenic	1 lab	2229e371c2
X:15333643 ASB11 T>C	X	15333643	15333643	T	C	ASB11	c.85A>G	NM_080873.2	NP_543149.1:p.(Lys29Glu)	NC_000023.10:g.15333643T>C	VUS	1 lab	222b926f7b
8:61741363 CHD7 C>T	8	61741363	61741363	C	T	CHD7				NC_000008.10:g.61741363C>T	(Likely) pathogenic	1 lab	222ce2dd60
14:57070568 TMEM260 C>T	14	57070568	57070568	C	T	TMEM260	c.380C>T	NM_017799.4	NP_060269.3:p.(Ala127Val)	NC_000014.8:g.57070568C>T	VUS	1 lab	222dc8d323
X:148628486 EOLA1 TC>T	X	148628486	148628489	TC	T	EOLA1	c.458del	NM_001171907.3	NP_001165378.1:p.(Pro153LeufsTer31)	NC_000023.10:g.148628489del	VUS	1 lab	222e119def
5:140783164 PCDHGA9 G>T	5	140783164	140783164	G	T	PCDHGA9	c.645G>T	NM_018921.2	NP_061744.1:p.(Ser215=)	NC_000005.9:g.140783164G>T	(Likely) benign	1 lab	222e7b749f
10:123276905 FGFR2 C>G	10	123276905	123276905	C	G	FGFR2	c.1012G>C	NM_000141.4	NP_000132.3:p.(Gly338Arg)	NC_000010.10:g.123276905C>G	(Likely) pathogenic	1 lab	22316776de
X:131231322 FRMD7 G>A	X	131231322	131231322	G	A	FRMD7	c.256C>T	NM_194277.2	NP_919253.1:p.(Pro86Ser)	NC_000023.10:g.131231322G>A	VUS	1 lab	2231ba95a9
1:240370279 FMN2 C>G	1	240370279	240370279	C	G	FMN2	c.2179C>G	NM_001305424.1	NP_001292353.1:p.(Leu727Val)	NC_000001.10:g.240370279C>G	(Likely) benign	1 lab	2231cd19e1
18:50731604 DCC T>C	18	50731604	50731604	T	C	DCC	c.1592T>C	NM_005215.3	NP_005206.2:p.(Val531Ala)	NC_000018.9:g.50731604T>C	(Likely) benign	1 lab	223229747f
19:11327686 DOCK6 C>T	19	11327686	11327686	C	T	DOCK6	c.3798G>A	NM_020812.3	NP_065863.2:p.(Pro1266=)	NC_000019.9:g.11327686C>T	(Likely) benign	1 lab	2232ccf9b0
X:124456741 TEX13C T>C	X	124456741	124456741	T	C	TEX13C	c.2773T>C	NM_001195272.2	NP_001182201.1:p.(Trp925Arg)	NC_000023.10:g.124456741T>C	VUS	1 lab	2236a00335
17:29557935 NF1 TC>ATGTAAAATTCTTTTT	17	29557935	29557936	TC	ATGTAAAATTCTTTTT	NF1	c.3189_3190delinsATGTAAAATTCTTTTT	NM_000267.3	NP_000258.1:p.(Cys1063Ter)	NC_000017.10:g.29557935_29557936delinsATGTAAAATTCTTTTT	(Likely) pathogenic	1 lab	2237fd3740
9:135797278 TSC1 G>T	9	135797278	135797278	G	T	TSC1	c.591C>A	NM_000368.4	NP_000359.1:p.(Cys197Ter)	NC_000009.11:g.135797278G>T	(Likely) pathogenic	1 lab	224174b8bf
10:50690820 ERCC6 C>T	10	50690820	50690820	C	T	ERCC6	c.2082G>A	NM_000124.2	NP_000115.1:p.(Pro694=)	NC_000010.10:g.50690820C>T	(Likely) benign	1 lab	2252fa2fa8
8:143956505 CYP11B1 G>C	8	143956505	143956505	G	C	CYP11B1	c.1266C>G	NM_000497.3	NP_000488.3:p.(Arg422=)	NC_000008.10:g.143956505G>C	(Likely) benign	1 lab	223a12e390
5:228417 SDHA A>G	5	228417	228417	A	G	SDHA	c.739A>G	NM_004168.3	NP_004159.2:p.(Ile247Val)	NC_000005.9:g.228417A>G	VUS	1 lab	223b5cbef7
8:145738792 RECQL4 C>T	8	145738792	145738792	C	T	RECQL4	c.2273G>A	NM_004260.3	NP_004251.3:p.(Arg758Gln)	NC_000008.10:g.145738792C>T	(Likely) benign	1 lab	223cf21780
6:76576301 MYO6 T>A	6	76576301	76576301	T	A	MYO6	c.1733T>A	NM_004999.3	NP_004990.3:p.(Ile578Asn)	NC_000006.11:g.76576301T>A	VUS	1 lab	223fecb925
2:61415496 USP34 A>C	2	61415496	61415496	A	C	USP34	c.10382T>G	NM_014709.3	NP_055524.3:p.(Leu3461Arg)	NC_000002.11:g.61415496A>C	(Likely) benign	1 lab	22408a841b
19:54314296 NLRP12 C>T	19	54314296	54314296	C	T	NLRP12	c.617G>A	NM_001277126.1	NP_001264055.1:p.(Arg206His)	NC_000019.9:g.54314296C>T	VUS	1 lab	22427bbadb
2:145157448 ZEB2 T>C	2	145157448	145157448	T	C	ZEB2	c.1306A>G	NM_014795.4	NP_055610.1:p.(Met436Val)	NC_000002.11:g.145157448T>C	(Likely) benign	1 lab	e63e206771
6:100054980 PRDM13 C>G	6	100054980	100054980	C	G	PRDM13	c.70C>G	NM_021620.3	NP_067633.2:p.(Leu24Val)	NC_000006.11:g.100054980C>G	VUS	1 lab	22444966ff
2:166756372 TTC21B G>A	2	166756372	166756372	G	A	TTC21B	c.2776C>T	NM_024753.4	NP_079029.3:p.(Arg926Ter)	NC_000002.11:g.166756372G>A	(Likely) pathogenic	1 lab	2244db1b42
6:26156913 H1-4 A>C	6	26156913	26156913	A	C	H1-4	c.295A>C	NM_005321.3	NP_005312.1:p.(Thr99Pro)	NC_000006.11:g.26156913A>C	VUS	1 lab	e642e6169e
22:19711493 GP1BB G>T	22	19711493	19711493	G	T	GP1BB	c.127G>T	NM_000407.4	NP_000398.1:p.(Gly43Trp)	NC_000022.10:g.19711493G>T	(Likely) pathogenic	1 lab	2246851e22
X:71825180 PHKA1 C>T	X	71825180	71825180	C	T	PHKA1	c.2756G>A	NM_002637.3	NP_002628.2:p.(Arg919Gln)	NC_000023.10:g.71825180C>T	VUS	1 lab	2248bd4577
X:130410964 IGSF1 C>T	X	130410964	130410964	C	T	IGSF1	c.2572G>A	NM_001170961.1	NP_001164432.1:p.(Asp858Asn)	NC_000023.10:g.130410964C>T	VUS	1 lab	224db8a95d
X:148797908 MAGEA11 A>C	X	148797908	148797908	A	C	MAGEA11	c.675A>C	NM_001011544.1	NP_001011544.1:p.(Lys225Asn)	NC_000023.10:g.148797908A>C	VUS	1 lab	224dd4db42
18:57136726 CCBE1 G>A	18	57136726	57136726	G	A	CCBE1	c.379C>T	NM_133459.4	NP_597716.1:p.(Arg127Trp)	NC_000018.9:g.57136726G>A	VUS	1 lab	224e8533fa
14:74327250 PTGR2 G>T	14	74327250	74327250	G	T	PTGR2	c.46G>T	NM_152444.2	NP_689657.1:p.(Gly16Cys)	NC_000014.8:g.74327250G>T	VUS	1 lab	22501467b6
8:10468817 RP1L1 C>G	8	10468817	10468817	C	G	RP1L1	c.2791G>C	NM_178857.5	NP_849188.4:p.(Gly931Arg)	NC_000008.10:g.10468817C>G	(Likely) benign	1 lab	2251631608
X:122766811 THOC2 G>A	X	122766811	122766811	G	A	THOC2	c.2217C>T	NM_001081550.1	NP_001075019.1:p.(Ala739=)	NC_000023.10:g.122766811G>A	(Likely) benign	1 lab	225198449a
14:23858677 MYH6 C>A	14	23858677	23858677	C	A	MYH6	c.3903G>T	NM_002471.3	NP_002462.2:p.(Ser1301=)	NC_000014.8:g.23858677C>A	(Likely) benign	1 lab	2251aa08b7
12:80604640 OTOGL A>G	12	80604640	80604640	A	G	OTOGL	c.66A>G	NM_173591.3	NP_775862.3:p.(Ala22=)	NC_000012.11:g.80604640A>G	(Likely) benign	1 lab	22522bd48e
1:235887445 LYST G>A	1	235887445	235887445	G	A	LYST	c.9198C>T	NM_001301365.1	NP_001288294.1:p.(Ser3066=)	NC_000001.10:g.235887445G>A	(Likely) benign	1 lab	22558f81b6
16:49671834 ZNF423 C>T	16	49671834	49671834	C	T	ZNF423	c.1049G>A	NM_001271620.2	NP_001258549.1:p.(Ser350Asn)	NC_000016.9:g.49671834C>T	VUS	1 lab	2255d20ee1
2:152440221 NEB T>C	2	152440221	152440221	T	C	NEB	c.15723A>G	NM_001271208.1	NP_001258137.1:p.(Leu5241=)	NC_000002.11:g.152440221T>C	(Likely) benign	1 lab	2256747f36
21:38308772 HLCS C>A	21	38308772	38308772	C	A	HLCS	c.973G>T	NM_001242784.2	NP_001229713.1:p.(Gly325Trp)	NC_000021.8:g.38308772C>A	VUS	1 lab	2256fd315e
3:164739025 SI T>C	3	164739025	164739025	T	C	SI	c.3246A>G	NM_001041.3	NP_001032.2:p.(Gly1082=)	NC_000003.11:g.164739025T>C	(Likely) benign	1 lab	22576f2270
5:127693005 FBN2 G>A	5	127693005	127693005	G	A	FBN2	c.2637C>T	NM_001999.3	NP_001990.2:p.(Pro879=)	NC_000005.9:g.127693005G>A	(Likely) benign	1 lab	2258046460
18:12706654 PSMG2 A>C	18	12706654	12706654	A	C	PSMG2	c.163A>C	NM_020232.5	NP_064617.2:p.(Met55Leu)	NC_000018.9:g.12706654A>C	(Likely) benign	1 lab	2258f283d6
5:176830619 F12 C>T	5	176830619	176830619	C	T	F12	c.1251-1G>A	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176830619C>T	(Likely) pathogenic	1 lab	225b746dd1
3:160037568 IFT80 T>C	3	160037568	160037568	T	C	IFT80	c.526A>G	NM_001190241.1	NP_001177170.1:p.(Thr176Ala)	NC_000003.11:g.160037568T>C	(Likely) benign	1 lab	225d6525bb
16:3929866 CREBBP T>A	16	3929866	3929866	T	A	CREBBP	c.52A>T	NM_004380.2	NP_004371.2:p.(Ser18Cys)	NC_000016.9:g.3929866T>A	VUS	1 lab	23abf51abb
2:179583220 TTN T>C	2	179583220	179583220	T	C	TTN	c.24613A>G	NM_001267550.1	NP_001254479.1:p.(Ile8205Val)	NC_000002.11:g.179583220T>C	VUS	1 lab	225fa1d37d
4:123192264 BLTP1 G>A	4	123192264	123192264	G	A	BLTP1	c.7585G>A	NM_015312.3	NP_056127.2:p.(Val2529Met)	NC_000004.11:g.123192264G>A	(Likely) benign	1 lab	2263d598db
6:169642042 THBS2 C>T	6	169642042	169642042	C	T	THBS2	c.706G>A	NM_003247.3	NP_003238.2:p.(Ala236Thr)	NC_000006.11:g.169642042C>T	(Likely) benign	1 lab	226624f225
5:70813254 BDP1 G>A	5	70813254	70813254	G	A	BDP1	c.4966G>A	NM_018429.2	NP_060899.2:p.(Val1656Ile)	NC_000005.9:g.70813254G>A	(Likely) benign	1 lab	226ba24437
19:7533811 ARHGEF18 G>A	19	7533811	7533811	G	A	ARHGEF18	c.2855G>A	NM_001130955.2	NP_001124427.2:p.(Arg952His)	NC_000019.9:g.7533811G>A	VUS	1 lab	226d3f2383
7:94054455 COL1A2 C>T	7	94054455	94054455	C	T	COL1A2	c.2700C>T	NM_000089.3	NP_000080.2:p.(Ala900=)	NC_000007.13:g.94054455C>T	(Likely) benign	1 lab	226e7f2630
2:238280514 COL6A3 C>T	2	238280514	238280514	C	T	COL6A3	c.4146G>A	NM_004369.3	NP_004360.2:p.(Ser1382=)	NC_000002.11:g.238280514C>T	(Likely) benign	1 lab	226eaee586
10:26482160 MYO3A A>G	10	26482160	26482160	A	G	MYO3A	c.4465A>G	NM_017433.5	NP_059129.3:p.(Ile1489Val)	NC_000010.10:g.26482160A>G	(Likely) benign	1 lab	226ebaf97e
10:123279676 FGFR2 C>T	10	123279676	123279676	C	T	FGFR2	c.756G>A	NM_022970.3	NP_075259.4:p.(Ser252=)	NC_000010.10:g.123279676C>T	(Likely) benign	1 lab	226f505e42
19:54545169 VSTM1 C>T	19	54545169	54545169	C	T	VSTM1	c.553+1G>A	NM_198481.4	NP_940883.2:p.?	NC_000019.9:g.54545169C>T	VUS	1 lab	2270c5dfd7
X:153694565 PLXNA3 C>T	X	153694565	153694565	C	T	PLXNA3	c.2751C>T	NM_017514.4	NP_059984.3:p.(Asp917=)	NC_000023.10:g.153694565C>T	(Likely) benign	1 lab	227132aa21
10:13152402 OPTN G>T	10	13152402	13152402	G	T	OPTN	c.295G>T	NM_001008211.1	NP_001008212.1:p.(Ala99Ser)	NC_000010.10:g.13152402G>T	(Likely) benign	1 lab	22732f20ec
17:29557401 NF1 GT>G	17	29557401	29557402	GT	G	NF1	c.3113+2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29557402del	(Likely) pathogenic	1 lab	22734f8b2f
14:103336727 TRAF3 G>A	14	103336727	103336727	G	A	TRAF3	c.189G>A	NM_145725.2	NP_663777.1:p.(Pro63=)	NC_000014.8:g.103336727G>A	(Likely) benign	1 lab	2274316159
22:41903986 ACO2 C>T	22	41903986	41903986	C	T	ACO2	c.365C>T	NM_001098.2	NP_001089.1:p.(Ser122Phe)	NC_000022.10:g.41903986C>T	VUS	1 lab	2274816ffe
1:160261984 COPA C>T	1	160261984	160261984	C	T	COPA	c.2992G>A	NM_001098398.2	NP_001091868.1:p.(Asp998Asn)	NC_000001.10:g.160261984C>T	VUS	1 lab	2275b4e67d
11:88911386 TYR T>C	11	88911386	88911386	T	C	TYR	c.265T>C	NM_000372.4	NP_000363.1:p.(Cys89Arg)	NC_000011.9:g.88911386T>C	(Likely) pathogenic	1 lab	2276970ecd
X:105152909 NRK C>G	X	105152909	105152909	C	G	NRK	c.1276C>G	NM_198465.3	NP_940867.2:p.(Pro426Ala)	NC_000023.10:g.105152909C>G	(Likely) benign	1 lab	2277ed2dad
4:128802306 PLK4 G>A	4	128802306	128802306	G	A	PLK4	c.17G>A	NM_014264.4	NP_055079.3:p.(Gly6Glu)	NC_000004.11:g.128802306G>A	VUS	1 lab	2279d47151
19:38573627 SIPA1L3 G>C	19	38573627	38573627	G	C	SIPA1L3	c.1422G>C	NM_015073.2	NP_055888.1:p.(Ser474=)	NC_000019.9:g.38573627G>C	(Likely) benign	1 lab	2279e2e39e
5:128796815 ADAMTS19 C>G	5	128796815	128796815	C	G	ADAMTS19	c.112C>G	NM_133638.4	NP_598377.4:p.(Arg38Gly)	NC_000005.9:g.128796815C>G	VUS	1 lab	227b804f1d
8:48734205 PRKDC G>A	8	48734205	48734205	G	A	PRKDC	c.9071C>T	NM_006904.6	NP_008835.5:p.(Pro3024Leu)	NC_000008.10:g.48734205G>A	VUS	1 lab	227d7840da
19:51412668 KLK4 A>C	19	51412668	51412668	A	C	KLK4	c.64T>G	NM_004917.4	NP_004908.4:p.(Ser22Ala)	NC_000019.9:g.51412668A>C	(Likely) benign	1 lab	e64f6d804f
22:42564678 TCF20 T>G	22	42564678	42564678	T	G	TCF20	c.5864A>C	NM_005650.4	NP_005641.1:p.(Glu1955Ala)	NC_000022.10:g.42564678T>G	VUS	1 lab	e6513a312c
1:6931825 CAMTA1 A>T	1	6931825	6931825	A	T	CAMTA1	c.243A>T	NM_001195563.1	NP_001182492.1:p.(Ter81CysextTer13)	NC_000001.10:g.6931825A>T	VUS	1 lab	2280058d3c
16:77369733 ADAMTS18 G>A	16	77369733	77369733	G	A	ADAMTS18	c.1263C>T	NM_001326358.1	NP_001313287.1:p.(Ser421=)	NC_000016.9:g.77369733G>A	(Likely) benign	1 lab	22813faf24
2:153520426 PRPF40A A>G	2	153520426	153520426	A	G	PRPF40A	c.1935T>C	NM_017892.4	NP_060362.3:p.(Tyr645=)	NC_000002.11:g.153520426A>G	(Likely) benign	1 lab	228442ff6d
7:103969449 LHFPL3 G>C	7	103969449	103969449	G	C	LHFPL3	c.222G>C	NM_199000.2	NP_945351.1:p.(Gly74=)	NC_000007.13:g.103969449G>C	(Likely) benign	1 lab	2286badb9d
11:55904271 OR8J3 T>C	11	55904271	55904271	T	C	OR8J3	c.924A>G	NM_001004064.1	NP_001004064.1:p.(Pro308=)	NC_000011.9:g.55904271T>C	(Likely) benign	1 lab	2288834bb6
14:21762836 RPGRIP1 G>T	14	21762836	21762836	G	T	RPGRIP1	c.86G>T	NM_020366.3	NP_065099.3:p.(Gly29Val)	NC_000014.8:g.21762836G>T	VUS	1 lab	228b7597d0
7:107342266 SLC26A4 G>A	7	107342266	107342266	G	A	SLC26A4	c.1804-6G>A	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107342266G>A	VUS	1 lab	228c26773c
12:103240702 PAH G>T	12	103240702	103240702	G	T	PAH	c.940C>A	NM_000277.1	NP_000268.1:p.(Pro314Thr)	NC_000012.11:g.103240702G>T	(Likely) pathogenic	1 lab	228d010b94
17:39919562 JUP C>A	17	39919562	39919562	C	A	JUP	c.1170G>T	NM_021991.2	NP_068831.1:p.(Glu390Asp)	NC_000017.10:g.39919562C>A	(Likely) benign	1 lab	228d1bad35
1:120547926 NOTCH2 C>G	1	120547926	120547926	C	G	NOTCH2	c.415+26G>C	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120547926C>G	(Likely) benign	1 lab	228e682da9
1:156641152 NES G>A	1	156641152	156641152	G	A	NES	c.2828C>T	NM_006617.1	NP_006608.1:p.(Pro943Leu)	NC_000001.10:g.156641152G>A	(Likely) benign	1 lab	228f6bd1ea
2:74328029 TET3 G>A	2	74328029	74328029	G	A	TET3	c.4114G>A	NM_001287491.2	NP_001274420.1:p.(Ala1372Thr)	NC_000002.11:g.74328029G>A	VUS	1 lab	228fc261fb
2:10192351 KLF11 CAG>C	2	10192351	10192353	CAG	C	KLF11	c.1259-2_1259-1del	NM_003597.5	NP_003588.1:p.?	NC_000002.11:g.10192352_10192353del	VUS	1 lab	2291a17424
2:228160020 COL4A3 C>T	2	228160020	228160020	C	T	COL4A3	c.3553C>T	NM_000091.4	NP_000082.2:p.(Pro1185Ser)	NC_000002.11:g.228160020C>T	VUS	1 lab	2292214bd0
15:51041914 SPPL2A C>T	15	51041914	51041914	C	T	SPPL2A	c.96G>A	NM_032802.4	NP_116191.2:p.(Ala32=)	NC_000015.9:g.51041914C>T	(Likely) benign	1 lab	2292a22157
14:100363623 EML1 C>T	14	100363623	100363623	C	T	EML1	c.876C>T	NM_001008707.1	NP_001008707.1:p.(Asp292=)	NC_000014.8:g.100363623C>T	(Likely) benign	1 lab	2294661a54
19:11134301 SMARCA4 C>T	19	11134301	11134301	C	T	SMARCA4	c.2967C>T	NM_001128844.1	NP_001122316.1:p.(Pro989=)	NC_000019.9:g.11134301C>T	(Likely) benign	1 lab	22968dafe5
11:552101 LRRC56 C>T	11	552101	552101	C	T	LRRC56	c.1050C>T	NM_198075.4	NP_932341.1:p.(Pro350=)	NC_000011.9:g.552101C>T	(Likely) benign	1 lab	229786cc19
12:124184347 TCTN2 C>T	12	124184347	124184347	C	T	TCTN2	c.1602C>T	NM_024809.4	NP_079085.2:p.(Leu534=)	NC_000012.11:g.124184347C>T	(Likely) benign	1 lab	229b1b3e98
2:241689904 KIF1A G>A	2	241689904	241689904	G	A	KIF1A	c.2919C>T	NM_001244008.1	NP_001230937.1:p.(Ile973=)	NC_000002.11:g.241689904G>A	(Likely) benign	1 lab	229c4cb151
1:205892291 SLC26A9 G>T	1	205892291	205892291	G	T	SLC26A9	c.1692C>A	NM_052934.4	NP_443166.1:p.(Ala564=)	NC_000001.10:g.205892291G>T	(Likely) benign	1 lab	229c8d4593
8:48842520 PRKDC A>G	8	48842520	48842520	A	G	PRKDC	c.1945T>C	NM_006904.6	NP_008835.5:p.(Phe649Leu)	NC_000008.10:g.48842520A>G	(Likely) benign	1 lab	229d003e74
1:186275564 PRG4 C>T	1	186275564	186275564	C	T	PRG4	c.713C>T	NM_005807.4	NP_005798.3:p.(Thr238Met)	NC_000001.10:g.186275564C>T	(Likely) benign	1 lab	229ec0beb2
15:34542516 SLC12A6 C>T	15	34542516	34542516	C	T	SLC12A6	c.1605G>A	NM_001042496.1	NP_001035961.1:p.(Gly535=)	NC_000015.9:g.34542516C>T	(Likely) benign	1 lab	229edd2e87
16:49671239 ZNF423 G>A	16	49671239	49671239	G	A	ZNF423	c.1644C>T	NM_001271620.2	NP_001258549.1:p.(Ser548=)	NC_000016.9:g.49671239G>A	(Likely) benign	1 lab	229efdfcdf
22:21063642 PI4KA C>CA	22	21063642	21063643	C	CA	PI4KA	c.6198dup	NM_058004.3	NP_477352.3:p.(Glu2067Ter)	NC_000022.10:g.21063643dup	VUS	1 lab	22a28eaf35
2:73718005 ALMS1 G>A	2	73718005	73718005	G	A	ALMS1	c.8922G>A	NM_015120.4	NP_055935.4:p.(Ala2974=)	NC_000002.11:g.73718005G>A	(Likely) benign	1 lab	22a2e69b8e
15:62292786 VPS13C C>G	15	62292786	62292786	C	G	VPS13C	c.1330G>C	NM_001018088.2	NP_001018098.1:p.(Ala444Pro)	NC_000015.9:g.62292786C>G	VUS	1 lab	22a34fe36b
4:113567760 LARP7 C>T	4	113567760	113567760	C	T	LARP7	c.341C>T	NM_001267039.1	NP_001253968.1:p.(Thr114Ile)	NC_000004.11:g.113567760C>T	(Likely) benign	1 lab	22a3b9010d
4:169819786 PALLD T>C	4	169819786	169819786	T	C	PALLD	c.2393T>C	NM_001166108.2	NP_001159580.1:p.(Met798Thr)	NC_000004.11:g.169819786T>C	(Likely) benign	1 lab	22a46777a6
1:63050478 DOCK7 T>C	1	63050478	63050478	T	C	DOCK7	c.1872A>G	NM_001272002.1	NP_001258931.1:p.(Ser624=)	NC_000001.10:g.63050478T>C	(Likely) benign	1 lab	22a51b939b
3:10400462 ATP2B2 C>T	3	10400462	10400462	C	T	ATP2B2	c.1914G>A	NM_001330611.2	NP_001317540.1:p.(Pro638=)	NC_000003.11:g.10400462C>T	(Likely) benign	1 lab	22a560d03b
2:149799216 KIF5C T>C	2	149799216	149799216	T	C	KIF5C	c.531T>C	NM_004522.3	NP_004513.1:p.(Pro177=)	NC_000002.11:g.149799216T>C	(Likely) benign	1 lab	22a5eeae07
15:43903186 STRC C>CA	15	43903186	43903187	C	CA	STRC	c.3307-5dup	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43903187dup	(Likely) benign	1 lab	22a6793b2c
15:42178377 SPTBN5 C>T	15	42178377	42178377	C	T	SPTBN5	c.1076G>A	NM_016642.4	NP_057726.4:p.(Arg359Gln)	NC_000015.9:g.42178377C>T	(Likely) benign	1 lab	22a8837a38
17:40180231 ZNF385C C>T	17	40180231	40180231	C	T	ZNF385C	c.764G>A	NM_001242704.1	NP_001229633.1:p.(Arg255Gln)	NC_000017.10:g.40180231C>T	VUS	1 lab	22a9155657
11:73803554 C2CD3 T>C	11	73803554	73803554	T	C	C2CD3	c.3424A>G	NM_001286577.1	NP_001273506.1:p.(Thr1142Ala)	NC_000011.9:g.73803554T>C	(Likely) benign	1 lab	22ab1a5911
17:41243658 BRCA1 GA>G	17	41243658	41243662	GA	G	BRCA1	c.3889del	NM_007294.4	NP_009225.1:p.(Ser1297LeufsTer10)	NC_000017.10:g.41243662del	(Likely) pathogenic	1 lab	e655c6fd04
2:170059380 LRP2 G>A	2	170059380	170059380	G	A	LRP2	c.8095C>T	NM_004525.3	NP_004516.2:p.(Arg2699Ter)	NC_000002.11:g.170059380G>A	(Likely) pathogenic	1 lab	22ad2c3bdc
7:117364646 CTTNBP2 G>A	7	117364646	117364646	G	A	CTTNBP2	c.4348C>T	NM_001363349.1	NP_001350278.1:p.(Arg1450Cys)	NC_000007.13:g.117364646G>A	VUS	1 lab	22afbd99dd
10:102748134 TWNK C>G	10	102748134	102748134	C	G	TWNK	c.167C>G	NM_001163812.1	NP_001157284.1:p.(Thr56Ser)	NC_000010.10:g.102748134C>G	VUS	1 lab	22afffb30e
X:76938204 ATRX G>A	X	76938204	76938204	G	A	ATRX	c.2544C>T	NM_000489.5	NP_000480.3:p.(Asp848=)	NC_000023.10:g.76938204G>A	(Likely) benign	1 lab	22b01eda84
11:118881946 CENATAC C>T	11	118881946	118881946	C	T	CENATAC	c.466C>T	NM_198489.2	NP_940891.1:p.(Arg156Cys)	NC_000011.9:g.118881946C>T	VUS	1 lab	22b228da3e
12:80940411 MISSING C>T	12	80940411	80940411	C	T	MISSING				NC_000012.11:g.80940411C>T	VUS	1 lab	22b318c4a4
5:179250930 SQSTM1 A>G	5	179250930	179250930	A	G	SQSTM1	c.374A>G	NM_003900.5	NP_003891.1:p.(Asn125Ser)	NC_000005.9:g.179250930A>G	VUS	1 lab	22b334b149
13:32930730 BRCA2 C>T	13	32930730	32930730	C	T	BRCA2	c.7601C>T	NM_000059.3	NP_000050.2:p.(Ala2534Val)	NC_000013.10:g.32930730C>T	(Likely) benign	1 lab	22b33537cc
10:112570231 RBM20 A>G	10	112570231	112570231	A	G	RBM20	c.1880+11A>G	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112570231A>G	(Likely) benign	1 lab	22b337e21e
19:16688408 MED26 C>T	19	16688408	16688408	C	T	MED26	c.233G>A	NM_004831.3	NP_004822.2:p.(Arg78Gln)	NC_000019.9:g.16688408C>T	VUS	1 lab	22b5d06abd
2:113999714 PAX8 T>C	2	113999714	113999714	T	C	PAX8	c.479-7A>G	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113999714T>C	(Likely) benign	1 lab	3f79c01d4e
17:80196600 SLC16A3 C>A	17	80196600	80196600	C	A	SLC16A3	c.1146C>A	NM_001206950.1	NP_001193879.1:p.(His382Gln)	NC_000017.10:g.80196600C>A	(Likely) benign	1 lab	22b5e428b8
19:47152761 DACT3 G>A	19	47152761	47152761	G	A	DACT3	c.868C>T	NM_145056.3	NP_659493.2:p.(Pro290Ser)	NC_000019.9:g.47152761G>A	VUS	1 lab	22b60c14a6
X:153696702 PLXNA3 C>T	X	153696702	153696702	C	T	PLXNA3	c.4020C>T	NM_017514.4	NP_059984.3:p.(Arg1340=)	NC_000023.10:g.153696702C>T	(Likely) benign	1 lab	22b76b0690
10:105800115 COL17A1 C>T	10	105800115	105800115	C	T	COL17A1	c.2755G>A	NM_000494.4	NP_000485.3:p.(Asp919Asn)	NC_000010.10:g.105800115C>T	VUS	1 lab	22b9ffa283
2:189871155 COL3A1 AAG>A	2	189871155	189871159	AAG	A	COL3A1	c.3181_3182del	NM_000090.4	NP_000081.2:p.(Ser1061TrpfsTer2)	NC_000002.11:g.189871158_189871159del	(Likely) pathogenic	1 lab	22bb9e14d9
10:112541174 RBM20 C>G	10	112541174	112541174	C	G	RBM20	c.807C>G	NM_001134363.1	NP_001127835.1:p.(His269Gln)	NC_000010.10:g.112541174C>G	(Likely) benign	1 lab	22bcd58fb8
2:179480467 TTN G>A	2	179480467	179480467	G	A	TTN	c.48361C>T	NM_001267550.2	NP_001254479.2:p.(Gln16121Ter)	NC_000002.11:g.179480467G>A	(Likely) pathogenic	1 lab	e659a8e7a1
2:209190511 PIKFYVE C>T	2	209190511	209190511	C	T	PIKFYVE	c.2976C>T	NM_015040.3	NP_055855.2:p.(Gly992=)	NC_000002.11:g.209190511C>T	(Likely) benign	1 lab	22be21d0ed
1:69334 OR4F5 C>T	1	69334	69334	C	T	OR4F5	c.244C>T	NM_001005484.1	NP_001005484.1:p.(Arg82Cys)	NC_000001.10:g.69334C>T	(Likely) benign	1 lab	22be56da94
1:110148950 GNAT2 G>A	1	110148950	110148950	G	A	GNAT2	c.570C>T	NM_005272.3	NP_005263.1:p.(Ser190=)	NC_000001.10:g.110148950G>A	(Likely) benign	1 lab	22c7c19ba6
19:5041263 KDM4B G>C	19	5041263	5041263	G	C	KDM4B	c.432+1G>C	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5041263G>C	VUS	1 lab	e65c56fb27
9:108370133 FKTN G>A	9	108370133	108370133	G	A	FKTN	c.681G>A	NM_001079802.1	NP_001073270.1:p.(Leu227=)	NC_000009.11:g.108370133G>A	(Likely) benign	1 lab	22bff93dae
1:983686 AGRN T>C	1	983686	983686	T	C	AGRN	c.3731T>C	NM_001364727.1	NP_001351656.1:p.(Leu1244Ser)	NC_000001.10:g.983686T>C	(Likely) benign	1 lab	22c03977ce
8:6357446 MCPH1 C>G	8	6357446	6357446	C	G	MCPH1	c.2210C>G	NM_024596.4	NP_078872.2:p.(Ala737Gly)	NC_000008.10:g.6357446C>G	VUS	1 lab	22c1346ce8
14:102452935 DYNC1H1 C>T	14	102452935	102452935	C	T	DYNC1H1	c.2373C>T	NM_001376.4	NP_001367.2:p.(Thr791=)	NC_000014.8:g.102452935C>T	(Likely) benign	1 lab	22c1b9a7a0
16:83948710 MLYCD C>T	16	83948710	83948710	C	T	MLYCD	c.1098C>T	NM_012213.2	NP_036345.2:p.(Ile366=)	NC_000016.9:g.83948710C>T	(Likely) benign	1 lab	22c2136bb3
1:216172321 USH2A T>C	1	216172321	216172321	T	C	USH2A	c.6565A>G	NM_206933.2	NP_996816.2:p.(Ile2189Val)	NC_000001.10:g.216172321T>C	(Likely) benign	1 lab	22c27f0fae
16:28497811 CLN3 C>G	16	28497811	28497811	C	G	CLN3	c.534G>C	NM_001042432.1	NP_001035897.1:p.(Arg178Ser)	NC_000016.9:g.28497811C>G	VUS	1 lab	22c40bf63b
16:2121533 TSC2 T>C	16	2121533	2121533	T	C	TSC2	c.1862T>C	NM_000548.3	NP_000539.2:p.(Leu621Pro)	NC_000016.9:g.2121533T>C	(Likely) pathogenic	1 lab	22c5ab373e
19:30196309 C19orf12 CA>C	19	30196309	30196331	CA	C	C19orf12	c.161-2426del	NM_031448.6	NP_113636.2:p.?	NC_000019.9:g.30196331del	(Likely) benign	1 lab	22c618462d
1:215972292 USH2A C>G	1	215972292	215972292	C	G	USH2A	c.9915G>C	NM_206933.2	NP_996816.2:p.(Glu3305Asp)	NC_000001.10:g.215972292C>G	(Likely) benign	1 lab	22c7ed2871
6:56917908 KIAA1586 GA>G	6	56917908	56917916	GA	G	KIAA1586	c.619del	NM_020931.4	NP_065982.1:p.(Ile207LeufsTer17)	NC_000006.11:g.56917916del	VUS	1 lab	22c8ee5f58
7:42005247 GLI3 G>A	7	42005247	42005247	G	A	GLI3	c.3424C>T	NM_000168.5	NP_000159.3:p.(Gln1142Ter)	NC_000007.13:g.42005247G>A	(Likely) pathogenic	1 lab	22c973648e
15:83349864 AP3B2 C>G	15	83349864	83349864	C	G	AP3B2	c.588G>C	NM_001278512.1	NP_001265441.1:p.(Thr196=)	NC_000015.9:g.83349864C>G	VUS	1 lab	22cbec3ab5
1:17314880 ATP13A2 G>A	1	17314880	17314880	G	A	ATP13A2	c.2699C>T	NM_022089.2	NP_071372.1:p.(Ala900Val)	NC_000001.10:g.17314880G>A	VUS	1 lab	22cd5d98eb
16:88501009 ZNF469 G>A	16	88501009	88501009	G	A	ZNF469				NC_000016.9:g.88501009G>A	(Likely) benign	1 lab	22d08c1a4e
19:38852346 CATSPERG A>G	19	38852346	38852346	A	G	CATSPERG	c.1939A>G	NM_021185.5	NP_067008.3:p.(Ser647Gly)	NC_000019.9:g.38852346A>G	(Likely) benign	1 lab	22d0de1414
15:95013674 MCTP2 A>G	15	95013674	95013674	A	G	MCTP2	c.2470+3A>G	NM_018349.4	NP_060819.3:p.?	NC_000015.9:g.95013674A>G	(Likely) benign	1 lab	e65ce39583
20:61040938 GATA5 T>C	20	61040938	61040938	T	C	GATA5	c.865A>G	NM_080473.4	NP_536721.1:p.(Thr289Ala)	NC_000020.10:g.61040938T>C	VUS	1 lab	22d236af51
1:243727130 AKT3 G>A	1	243727130	243727130	G	A	AKT3				NC_000001.10:g.243727130G>A	(Likely) benign	1 lab	22d286c083
19:7623782 PNPLA6 C>T	19	7623782	7623782	C	T	PNPLA6	c.3474C>T	NM_001166111.1	NP_001159583.1:p.(Asp1158=)	NC_000019.9:g.7623782C>T	(Likely) benign	1 lab	22d2954e52
7:103185830 RELN GAAC>G	7	103185830	103185835	GAAC	G	RELN	c.6303-42_6303-40del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103185833_103185835del	(Likely) benign	1 lab	22d29addf3
21:34074317 SYNJ1 T>C	21	34074317	34074317	T	C	SYNJ1	c.282A>G	NM_203446.2	NP_982271.2:p.(Lys94=)	NC_000021.8:g.34074317T>C	VUS	1 lab	22d4cf7af7
16:88788037 PIEZO1 G>A	16	88788037	88788037	G	A	PIEZO1	c.5312C>T	NM_001142864.4	NP_001136336.2:p.(Pro1771Leu)	NC_000016.9:g.88788037G>A	VUS	1 lab	e6631c2a31
15:91017005 IQGAP1 G>A	15	91017005	91017005	G	A	IQGAP1	c.2408G>A	NM_003870.3	NP_003861.1:p.(Arg803His)	NC_000015.9:g.91017005G>A	(Likely) benign	1 lab	22d756c681
19:33980913 PEPD G>A	19	33980913	33980913	G	A	PEPD	c.492C>T	NM_000285.4	NP_000276.2:p.(Asp164=)	NC_000019.9:g.33980913G>A	(Likely) benign	1 lab	e664b95a6a
8:55537822 RP1 G>C	8	55537822	55537822	G	C	RP1	c.1380G>C	NM_006269.1	NP_006260.1:p.(Lys460Asn)	NC_000008.10:g.55537822G>C	VUS	1 lab	22d7ee877f
9:103055081 INVS T>G	9	103055081	103055081	T	G	INVS	c.2254T>G	NM_001318381.1	NP_001305310.1:p.(Leu752Val)	NC_000009.11:g.103055081T>G	(Likely) benign	1 lab	22d8e7b423
18:67671480 RTTN A>T	18	67671480	67671480	A	T	RTTN	c.6596-8T>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67671480A>T	(Likely) benign	1 lab	22d989f1e9
19:35739926 LSR A>T	19	35739926	35739926	A	T	LSR	c.145A>T	NM_205834.3	NP_991403.1:p.(Met49Leu)	NC_000019.9:g.35739926A>T	VUS	1 lab	22d9a71321
2:26700636 OTOF G>C	2	26700636	26700636	G	C	OTOF	c.126C>G	NM_194322.2	NP_919303.1:p.(Thr42=)	NC_000002.11:g.26700636G>C	(Likely) benign	1 lab	22db88fd9c
17:43545743 PLEKHM1 C>T	17	43545743	43545743	C	T	PLEKHM1	c.1140G>A	NM_014798.2	NP_055613.1:p.(Ala380=)	NC_000017.10:g.43545743C>T	(Likely) benign	1 lab	22dcfea05f
X:70356310 MED12 C>T	X	70356310	70356310	C	T	MED12	c.5205C>T	NM_005120.2	NP_005111.2:p.(Arg1735=)	NC_000023.10:g.70356310C>T	(Likely) benign	1 lab	22dddc5f8e
X:153592641 FLNA G>A	X	153592641	153592641	G	A	FLNA	c.2122C>T	NM_001110556.2	NP_001104026.1:p.(Arg708Trp)	NC_000023.10:g.153592641G>A	VUS	1 lab	22de47bbe0
17:38975170 KRT10 G>A	17	38975170	38975170	G	A	KRT10	c.1617C>T	NM_000421.3	NP_000412.3:p.(Gly539=)	NC_000017.10:g.38975170G>A	(Likely) benign	1 lab	22de779192
4:183594357 TENM3 G>A	4	183594357	183594357	G	A	TENM3	c.1311G>A	NM_001080477.3	NP_001073946.1:p.(Pro437=)	NC_000004.11:g.183594357G>A	(Likely) benign	1 lab	22debe6ca0
12:111948276 ATXN2 T>C	12	111948276	111948276	T	C	ATXN2	c.2149A>G	NM_002973.3	NP_002964.3:p.(Thr717Ala)	NC_000012.11:g.111948276T>C	(Likely) benign	1 lab	22e0dde616
9:129453231 LMX1B G>C	9	129453231	129453231	G	C	LMX1B	c.443G>C	NM_002316.4	NP_002307.2:p.(Arg148Pro)	NC_000009.11:g.129453231G>C	(Likely) pathogenic	1 lab	e6668795e4
X:16737912 SYAP1 A>G	X	16737912	16737912	A	G	SYAP1	c.65A>G	NM_032796.3	NP_116185.2:p.(Asn22Ser)	NC_000023.10:g.16737912A>G	(Likely) benign	1 lab	22e2c250e2
7:33296936 BBS9 C>A	7	33296936	33296936	C	A	BBS9	c.531C>A	NM_198428.2	NP_940820.1:p.(Gly177=)	NC_000007.13:g.33296936C>A	(Likely) benign	1 lab	22e589a268
5:102474171 PPIP5K2 A>C	5	102474171	102474171	A	C	PPIP5K2	c.485A>C	NM_015216.4	NP_056031.2:p.(Lys162Thr)	NC_000005.9:g.102474171A>C	VUS	1 lab	22e64d29d9
5:13717555 DNAH5 G>A	5	13717555	13717555	G	A	DNAH5	c.12574C>T	NM_001369.2	NP_001360.1:p.(His4192Tyr)	NC_000005.9:g.13717555G>A	VUS	1 lab	22e7d96dfd
14:102918974 TECPR2 C>T	14	102918974	102918974	C	T	TECPR2	c.3640+10C>T	NM_014844.4	NP_055659.2:p.?	NC_000014.8:g.102918974C>T	(Likely) benign	1 lab	22e98e0367
9:117853058 TNC A>G	9	117853058	117853058	A	G	TNC	c.240T>C	NM_002160.3	NP_002151.2:p.(Pro80=)	NC_000009.11:g.117853058A>G	(Likely) benign	1 lab	22e9ba2012
3:4808267 ITPR1 G>A	3	4808267	4808267	G	A	ITPR1	c.5553G>A	NM_001168272.1	NP_001161744.1:p.(Lys1851=)	NC_000003.11:g.4808267G>A	(Likely) benign	1 lab	22e9bbf590
X:138879429 ATP11C A>G	X	138879429	138879429	A	G	ATP11C	c.923T>C	NM_173694.4	NP_775965.2:p.(Val308Ala)	NC_000023.10:g.138879429A>G	(Likely) benign	1 lab	22ea23954f
15:75308954 SCAMP5 G>A	15	75308954	75308954	G	A	SCAMP5	c.157G>A	NM_001178111.2	NP_001171582.1:p.(Val53Met)	NC_000015.9:g.75308954G>A	VUS	1 lab	e66b2c559a
8:144943936 EPPK1 C>T	8	144943936	144943936	C	T	EPPK1				NC_000008.10:g.144943936C>T	(Likely) benign	1 lab	22ebc67ba9
X:73811647 RLIM T>G	X	73811647	73811647	T	G	RLIM	c.1503A>C	NM_183353.2	NP_899196.1:p.(Ser501=)	NC_000023.10:g.73811647T>G	(Likely) benign	1 lab	22ed217bbc
20:62195412 HELZ2 C>A	20	62195412	62195412	C	A	HELZ2	c.4763G>T	NM_001037335.2	NP_001032412.2:p.(Gly1588Val)	NC_000020.10:g.62195412C>A	(Likely) benign	1 lab	22ed5f1e9c
19:1496348 REEP6 G>A	19	1496348	1496348	G	A	REEP6	c.413G>A	NM_001329556.2	NP_001316485.1:p.(Arg138His)	NC_000019.9:g.1496348G>A	VUS	1 lab	22ee08d180
3:186947563 MASP1 C>T	3	186947563	186947563	C	T	MASP1	c.1426G>A	NM_001879.5	NP_001870.3:p.(Gly476Arg)	NC_000003.11:g.186947563C>T	VUS	1 lab	22ee293932
15:48712934 FBN1 C>T	15	48712934	48712934	C	T	FBN1	c.7769G>A	NM_000138.4	NP_000129.3:p.(Cys2590Tyr)	NC_000015.9:g.48712934C>T	VUS	1 lab	22ef5e0659
18:55319958 ATP8B1 C>T	18	55319958	55319958	C	T	ATP8B1	c.3019G>A	NM_005603.6	NP_005594.2:p.(Val1007Met)	NC_000018.9:g.55319958C>T	VUS	1 lab	e6725b02bc
1:19528212 UBR4 T>G	1	19528212	19528212	T	G	UBR4	c.274A>C	NM_020765.2	NP_065816.2:p.(Ile92Leu)	NC_000001.10:g.19528212T>G	VUS	1 lab	22f1a09046
20:57429050 GNAS C>T	20	57429050	57429050	C	T	GNAS	c.730C>T	NM_080425.3	NP_536350.2:p.(Arg244Ter)	NC_000020.10:g.57429050C>T	(Likely) pathogenic	1 lab	22f2099ae8
22:30038260 NF2 GCCGT>G	22	30038260	30038266	GCCGT	G	NF2	c.436_439del	NM_000268.4	NP_000259.1:p.(Val146ArgfsTer27)	NC_000022.10:g.30038263_30038266del	(Likely) pathogenic	1 lab	22f35369cc
8:10480438 RP1L1 C>T	8	10480438	10480438	C	T	RP1L1	c.274G>A	NM_178857.5	NP_849188.4:p.(Ala92Thr)	NC_000008.10:g.10480438C>T	(Likely) benign	1 lab	22f4121a23
X:135453568 ADGRG4 T>A	X	135453568	135453568	T	A	ADGRG4	c.7478T>A	NM_153834.3	NP_722576.3:p.(Ile2493Asn)	NC_000023.10:g.135453568T>A	VUS	1 lab	22f5936e62
18:44171943 LOXHD1 A>T	18	44171943	44171943	A	T	LOXHD1	c.1607T>A	NM_144612.6	NP_653213.6:p.(Val536Glu)	NC_000018.9:g.44171943A>T	VUS	1 lab	22f5d2f333
19:11311727 DOCK6 G>A	19	11311727	11311727	G	A	DOCK6	c.5690C>T	NM_020812.3	NP_065863.2:p.(Thr1897Met)	NC_000019.9:g.11311727G>A	VUS	1 lab	22f6e4da25
11:121384976 SORL1 T>C	11	121384976	121384976	T	C	SORL1	c.1157T>C	NM_003105.5	NP_003096.1:p.(Leu386Ser)	NC_000011.9:g.121384976T>C	VUS	1 lab	22f977e71d
3:49455073 AMT C>T	3	49455073	49455073	C	T	AMT	c.1112G>A	NM_000481.4	NP_000472.2:p.(Arg371His)	NC_000003.11:g.49455073C>T	VUS	1 lab	e67a2c755d
19:1218423 STK11 C>T	19	1218423	1218423	C	T	STK11	c.298C>T	NM_000455.4	NP_000446.1:p.(Gln100Ter)	NC_000019.9:g.1218423C>T	(Likely) pathogenic	1 lab	22fd8fda07
1:154600372 ADAR A>G	1	154600372	154600372	A	G	ADAR	c.-912T>C	NM_001025107.3	NP_001020278.1:p.?	NC_000001.10:g.154600372A>G	(Likely) benign	1 lab	e67c353662
1:40562897 PPT1 C>T	1	40562897	40562897	C	T	PPT1	c.14G>A	NM_000310.3	NP_000301.1:p.(Gly5Asp)	NC_000001.10:g.40562897C>T	(Likely) benign	1 lab	22ff3bb880
16:70954797 HYDIN G>C	16	70954797	70954797	G	C	HYDIN	c.7482C>G	NM_001270974.2	NP_001257903.1:p.(Pro2494=)	NC_000016.9:g.70954797G>C	(Likely) benign	1 lab	2301c40eb0
5:14388814 TRIO T>TTG	5	14388814	14388816	T	TTG	TRIO	c.3948+27_3948+28dup	NM_007118.3	NP_009049.2:p.?	NC_000005.9:g.14388815_14388816dup	(Likely) benign	1 lab	230220d479
X:74742807 ZDHHC15 C>G	X	74742807	74742807	C	G	ZDHHC15	c.53G>C	NM_144969.2	NP_659406.1:p.(Arg18Pro)	NC_000023.10:g.74742807C>G	VUS	1 lab	2303d010f6
7:5568089 ACTB C>T	7	5568089	5568089	C	T	ACTB	c.625G>A	NM_001101.3	NP_001092.1:p.(Val209Met)	NC_000007.13:g.5568089C>T	(Likely) pathogenic	1 lab	230473e36d
2:169985258 LRP2 C>G	2	169985258	169985258	C	G	LRP2	c.13883G>C	NM_004525.3	NP_004516.2:p.(Arg4628Thr)	NC_000002.11:g.169985258C>G	(Likely) benign	1 lab	23054b5c30
7:103207075 RELN C>T	7	103207075	103207075	C	T	RELN	c.4720G>A	NM_005045.3	NP_005036.2:p.(Ala1574Thr)	NC_000007.13:g.103207075C>T	VUS	1 lab	2307938332
12:104121047 STAB2 G>A	12	104121047	104121047	G	A	STAB2	c.4854G>A	NM_017564.10	NP_060034.9:p.(Glu1618=)	NC_000012.11:g.104121047G>A	(Likely) benign	1 lab	2307b67fa8
21:43809147 TMPRSS3 G>A	21	43809147	43809147	G	A	TMPRSS3	c.213C>T	NM_024022.2	NP_076927.1:p.(Phe71=)	NC_000021.8:g.43809147G>A	(Likely) benign	1 lab	230837861c
8:10469547 RP1L1 C>G	8	10469547	10469547	C	G	RP1L1	c.2061G>C	NM_178857.5	NP_849188.4:p.(Pro687=)	NC_000008.10:g.10469547C>G	(Likely) benign	1 lab	230b330532
20:62071038 KCNQ2 G>A	20	62071038	62071038	G	A	KCNQ2	c.840C>T	NM_172107.3	NP_742105.1:p.(Tyr280=)	NC_000020.10:g.62071038G>A	(Likely) benign	1 lab	230b6836de
4:15004961 CPEB2 G>A	4	15004961	15004961	G	A	CPEB2	c.664G>A	NM_001177382.1	NP_001170853.1:p.(Ala222Thr)	NC_000004.11:g.15004961G>A	(Likely) benign	1 lab	230c97f0c2
2:240954286 NDUFA10 T>C	2	240954286	240954286	T	C	NDUFA10	c.548-9A>G	NM_004544.3	NP_004535.1:p.?	NC_000002.11:g.240954286T>C	(Likely) benign	1 lab	230ddd9bfb
17:29490220 NF1 TG>T	17	29490220	29490221	TG	T	NF1	c.306del	NM_001042492.3	NP_001035957.1:p.(Met102IlefsTer3)	NC_000017.10:g.29490221del	(Likely) pathogenic	1 lab	230e13e939
12:52844358 KRT6B G>A	12	52844358	52844358	G	A	KRT6B	c.587C>T	NM_005555.4	NP_005546.2:p.(Thr196Ile)	NC_000012.11:g.52844358G>A	(Likely) benign	1 lab	e67cbc8a86
20:10622429 JAG1 A>C	20	10622429	10622429	A	C	JAG1	c.2682+2T>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622429A>C	(Likely) pathogenic	1 lab	231038bc8d
7:112090830 IFRD1 G>T	7	112090830	112090830	G	T	IFRD1	c.87G>T	NM_001007245.2	NP_001007246.1:p.(Ala29=)	NC_000007.13:g.112090830G>T	(Likely) benign	1 lab	23111193bb
5:37006500 NIPBL T>C	5	37006500	37006500	T	C	NIPBL	c.3897T>C	NM_015384.4	NP_056199.2:p.(Leu1299=)	NC_000005.9:g.37006500T>C	(Likely) benign	1 lab	2314c3806d
3:15749436 ANKRD28 A>G	3	15749436	15749436	A	G	ANKRD28	c.990T>C	NM_001195098.1	NP_001182027.1:p.(Asp330=)	NC_000003.11:g.15749436A>G	(Likely) benign	1 lab	23158ace2f
2:110920684 NPHP1 G>A	2	110920684	110920684	G	A	NPHP1	c.968C>T	NM_000272.3	NP_000263.2:p.(Thr323Met)	NC_000002.11:g.110920684G>A	VUS	1 lab	23162fa1ca
12:111856181 SH2B3 G>A	12	111856181	111856181	G	A	SH2B3	c.232G>A	NM_005475.2	NP_005466.1:p.(Glu78Lys)	NC_000012.11:g.111856181G>A	VUS	1 lab	2316e588a6
9:91949568 SECISBP2 AGT>A	9	91949568	91949570	AGT	A	SECISBP2	c.1013_1014del	NM_024077.5	NP_076982.3:p.(Ser338AsnfsTer5)	NC_000009.11:g.91949569_91949570del	(Likely) benign	1 lab	23171ab8ea
6:152485387 SYNE1 G>C	6	152485387	152485387	G	C	SYNE1	c.23701C>G	NM_182961.3	NP_892006.3:p.(Leu7901Val)	NC_000006.11:g.152485387G>C	VUS	1 lab	231771679b
16:2114336 TSC2 C>T	16	2114336	2114336	C	T	TSC2	c.1507C>T	NM_000548.3	NP_000539.2:p.(Gln503Ter)	NC_000016.9:g.2114336C>T	(Likely) pathogenic	1 lab	2317e51311
22:35819252 MCM5 G>A	22	35819252	35819252	G	A	MCM5	c.2021G>A	NM_006739.4	NP_006730.2:p.(Arg674His)	NC_000022.10:g.35819252G>A	VUS	1 lab	231a8baaff
1:11856311 MTHFR G>A	1	11856311	11856311	G	A	MTHFR	c.732C>T	NM_005957.4	NP_005948.3:p.(Thr244=)	NC_000001.10:g.11856311G>A	(Likely) benign	1 lab	231b6aa607
17:79478470 ACTG1 G>A	17	79478470	79478470	G	A	ACTG1	c.546C>T	NM_001199954.2	NP_001186883.1:p.(Gly182=)	NC_000017.10:g.79478470G>A	(Likely) benign	1 lab	231bdb83b8
7:44806078 ZMIZ2 C>T	7	44806078	44806078	C	T	ZMIZ2	c.2471C>T	NM_031449.4	NP_113637.3:p.(Thr824Ile)	NC_000007.13:g.44806078C>T	(Likely) benign	1 lab	231d564016
3:47702889 SMARCC1 T>C	3	47702889	47702889	T	C	SMARCC1	c.2215A>G	NM_003074.4	NP_003065.3:p.(Lys739Glu)	NC_000003.11:g.47702889T>C	VUS	1 lab	e67ce69cd9
1:19215881 ALDH4A1 G>A	1	19215881	19215881	G	A	ALDH4A1	c.44C>T	NM_001161504.1	NP_001154976.1:p.(Thr15Met)	NC_000001.10:g.19215881G>A	VUS	1 lab	231ea86f14
X:31089790 FTHL17 C>T	X	31089790	31089790	C	T	FTHL17	c.281G>A	NM_031894.2	NP_114100.1:p.(Trp94Ter)	NC_000023.10:g.31089790C>T	VUS	1 lab	23212f3c5c
X:153296711 MECP2 G>A	X	153296711	153296711	G	A	MECP2	c.568C>T	NM_004992.4	NP_004983.1:p.(Arg190Cys)	NC_000023.10:g.153296711G>A	VUS	1 lab	e67f5f7e43
9:119460518 TRIM32 G>A	9	119460518	119460518	G	A	TRIM32	c.497G>A	NM_012210.3	NP_036342.2:p.(Arg166Gln)	NC_000009.11:g.119460518G>A	VUS	1 lab	23239bbd9b
12:120128165 CIT G>GC	12	120128165	120128166	G	GC	CIT	c.5976dup	NM_001206999.1	NP_001193928.1:p.(Arg1993AlafsTer49)	NC_000012.11:g.120128166dup	(Likely) pathogenic	1 lab	2323b90e2d
18:61261697 SERPINB13 A>G	18	61261697	61261697	A	G	SERPINB13	c.608A>G	NM_001307923.1	NP_001294852.1:p.(Glu203Gly)	NC_000018.9:g.61261697A>G	VUS	1 lab	23247483f6
17:76803184 USP36 C>T	17	76803184	76803184	C	T	USP36	c.1942G>A	NM_001321291.1	NP_001308220.1:p.(Ala648Thr)	NC_000017.10:g.76803184C>T	(Likely) benign	1 lab	23283f703e
4:5749975 EVC C>T	4	5749975	5749975	C	T	EVC	c.1040C>T	NM_153717.2	NP_714928.1:p.(Thr347Met)	NC_000004.11:g.5749975C>T	(Likely) benign	1 lab	23292bc80f
6:74310146 SLC17A5 C>A	6	74310146	74310146	C	A	SLC17A5	c.1278G>T	NM_012434.4	NP_036566.1:p.(Leu426=)	NC_000006.11:g.74310146C>A	(Likely) benign	1 lab	23298c5093
5:90151639 ADGRV1 G>T	5	90151639	90151639	G	T	ADGRV1	c.17676G>T	NM_032119.4	NP_115495.3:p.(Val5892=)	NC_000005.9:g.90151639G>T	(Likely) benign	1 lab	232b3f6edc
7:87021885 CROT C>T	7	87021885	87021885	C	T	CROT	c.1513C>T	NM_001143935.1	NP_001137407.1:p.(Arg505Cys)	NC_000007.13:g.87021885C>T	VUS	1 lab	232d718a00
X:153420176 OPN1LW A>C	X	153420176	153420176	A	C	OPN1LW	c.706A>C	NM_020061.5	NP_064445.2:p.(Met236Leu)	NC_000023.10:g.153420176A>C	VUS	1 lab	232ed886c5
8:90960116 NBN T>C	8	90960116	90960116	T	C	NBN	c.1850A>G	NM_002485.4	NP_002476.2:p.(Glu617Gly)	NC_000008.10:g.90960116T>C	VUS	1 lab	23315fb6a8
X:49840642 CLCN5 CAT>C	X	49840642	49840644	CAT	C	CLCN5	c.603+6_603+7del	NM_001127898.4	NP_001121370.1:p.?	NC_000023.10:g.49840643_49840644del	(Likely) benign	1 lab	23325510aa
5:89979640 ADGRV1 A>G	5	89979640	89979640	A	G	ADGRV1	c.5902A>G	NM_032119.4	NP_115495.3:p.(Thr1968Ala)	NC_000005.9:g.89979640A>G	VUS	1 lab	233542a0d8
1:202715044 KDM5B G>GT	1	202715044	202715045	G	GT	KDM5B	c.2372dup	NM_001314042.1	NP_001300971.1:p.(Tyr791Ter)	NC_000001.10:g.202715045dup	VUS	1 lab	2337b53d9b
4:110904584 EGF A>T	4	110904584	110904584	A	T	EGF	c.2378A>T	NM_001963.5	NP_001954.2:p.(Glu793Val)	NC_000004.11:g.110904584A>T	(Likely) benign	1 lab	2337d8fe4c
12:13716373 GRIN2B C>A	12	13716373	13716373	C	A	GRIN2B	c.3799G>T	NM_000834.4	NP_000825.2:p.(Ala1267Ser)	NC_000012.11:g.13716373C>A	(Likely) benign	1 lab	2338f0b186
2:141083388 LRP1B T>C	2	141083388	141083388	T	C	LRP1B	c.12283A>G	NM_018557.2	NP_061027.2:p.(Ile4095Val)	NC_000002.11:g.141083388T>C	VUS	1 lab	233a260a66
X:41004145 USP9X T>G	X	41004145	41004145	T	G	USP9X	c.1419+266T>G	NM_001039590.3	NP_001034679.2:p.?	NC_000023.10:g.41004145T>G	VUS	1 lab	e682db8f36
X:47497175 ELK1 G>T	X	47497175	47497175	G	T	ELK1	c.1061C>A	NM_001114123.2	NP_001107595.1:p.(Pro354Gln)	NC_000023.10:g.47497175G>T	VUS	1 lab	233d78054b
2:186611436 FSIP2 C>T	2	186611436	186611436	C	T	FSIP2	c.658C>T	NM_173651.3	NP_775922.3:p.(Arg220Cys)	NC_000002.11:g.186611436C>T	VUS	1 lab	233da1c2ea
12:5020781 KCNA1 G>A	12	5020781	5020781	G	A	KCNA1	c.237G>A	NM_000217.3	NP_000208.2:p.(Glu79=)	NC_000012.11:g.5020781G>A	(Likely) benign	1 lab	233e2042d4
14:21161381 RNASE4 A>G	14	21161381	21161381	A	G	RNASE4	c.-121-325A>G	NM_001282192.1	NP_001269121.1:p.?	NC_000014.8:g.21161381A>G	(Likely) benign	1 lab	23431be569
X:48558859 SUV39H1 C>T	X	48558859	48558859	C	T	SUV39H1	c.576C>T	NM_001282166.1	NP_001269095.1:p.(Cys192=)	NC_000023.10:g.48558859C>T	(Likely) benign	1 lab	2343f1ebbc
12:80761998 OTOGL C>A	12	80761998	80761998	C	A	OTOGL	c.6497C>A	NM_173591.3	NP_775862.3:p.(Thr2166Asn)	NC_000012.11:g.80761998C>A	(Likely) benign	1 lab	234431d680
X:153130056 L1CAM C>A	X	153130056	153130056	C	A	L1CAM	c.3150G>T	NM_001278116.1	NP_001265045.1:p.(Leu1050Phe)	NC_000023.10:g.153130056C>A	(Likely) benign	1 lab	23455638ec
X:22266008 PHEX G>T	X	22266008	22266008	G	T	PHEX	c.2188G>T	NM_000444.5	NP_000435.3:p.(Ala730Ser)	NC_000023.10:g.22266008G>T	(Likely) benign	1 lab	235e617c79
7:42005343 GLI3 G>GCT	7	42005343	42005346	G	GCT	GLI3	c.3326_3327dup	NM_000168.5	NP_000159.3:p.(Gln1110SerfsTer97)	NC_000007.13:g.42005345_42005346dup	(Likely) pathogenic	1 lab	2346919fd8
X:153761160 G6PD C>G	X	153761160	153761160	C	G	G6PD	c.1138G>C	NM_000402.4	NP_000393.4:p.(Asp380His)	NC_000023.10:g.153761160C>G	(Likely) benign	1 lab	2347afb063
19:10476556 TYK2 C>T	19	10476556	10476556	C	T	TYK2	c.648G>A	NM_003331.4	NP_003322.3:p.(Pro216=)	NC_000019.9:g.10476556C>T	(Likely) benign	1 lab	2348ca2136
6:35773769 LHFPL5 A>C	6	35773769	35773769	A	C	LHFPL5	c.322A>C	NM_182548.4	NP_872354.1:p.(Ile108Leu)	NC_000006.11:g.35773769A>C	(Likely) benign	1 lab	2349760d3d
16:30760206 PHKG2 A>G	16	30760206	30760206	A	G	PHKG2	c.65A>G	NM_000294.2	NP_000285.1:p.(Gln22Arg)	NC_000016.9:g.30760206A>G	VUS	1 lab	234a52beee
2:179434864 TTN C>G	2	179434864	179434864	C	G	TTN	c.75995G>C	NM_001267550.2	NP_001254479.2:p.(Gly25332Ala)	NC_000002.11:g.179434864C>G	VUS	1 lab	e6839f7b35
X:153688594 PLXNA3 G>A	X	153688594	153688594	G	A	PLXNA3	c.71G>A	NM_017514.4	NP_059984.3:p.(Arg24His)	NC_000023.10:g.153688594G>A	(Likely) benign	1 lab	234d27aef1
7:94044588 COL1A2 T>C	7	94044588	94044588	T	C	COL1A2	c.1764+6T>C	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94044588T>C	(Likely) benign	1 lab	234ddb76dc
1:213032348 FLVCR1 G>C	1	213032348	213032348	G	C	FLVCR1	c.554G>C	NM_014053.3	NP_054772.1:p.(Cys185Ser)	NC_000001.10:g.213032348G>C	VUS	1 lab	234eedeafa
19:1612340 TCF3 C>T	19	1612340	1612340	C	T	TCF3	c.1679G>A	NM_001136139.4	NP_001129611.1:p.(Arg560Gln)	NC_000019.9:g.1612340C>T	VUS	1 lab	23509caf01
10:16990602 CUBN C>T	10	16990602	16990602	C	T	CUBN	c.5084G>A	NM_001081.3	NP_001072.2:p.(Arg1695His)	NC_000010.10:g.16990602C>T	VUS	1 lab	2350c8bb73
10:87487798 GRID1 G>A	10	87487798	87487798	G	A	GRID1	c.1347C>T	NM_017551.2	NP_060021.1:p.(Phe449=)	NC_000010.10:g.87487798G>A	(Likely) benign	1 lab	2351558851
21:47850100 PCNT C>T	21	47850100	47850100	C	T	PCNT	c.7867C>T	NM_006031.5	NP_006022.3:p.(Leu2623=)	NC_000021.8:g.47850100C>T	(Likely) benign	1 lab	23674f14f6
1:6309503 GPR153 C>T	1	6309503	6309503	C	T	GPR153	c.1725G>A	NM_207370.3	NP_997253.2:p.(Leu575=)	NC_000001.10:g.6309503C>T	(Likely) benign	1 lab	2353bee2ca
12:80750605 OTOGL G>A	12	80750605	80750605	G	A	OTOGL	c.5903G>A	NM_173591.3	NP_775862.3:p.(Cys1968Tyr)	NC_000012.11:g.80750605G>A	VUS	1 lab	23548b1b73
X:39933021 BCOR C>T	X	39933021	39933021	C	T	BCOR	c.1578G>A	NM_001123385.1	NP_001116857.1:p.(Ser526=)	NC_000023.10:g.39933021C>T	(Likely) benign	1 lab	2355bb6cc1
X:153581191 FLNA C>A	X	153581191	153581191	C	A	FLNA	c.6328G>T	NM_001110556.2	NP_001104026.1:p.(Glu2110Ter)	NC_000023.10:g.153581191C>A	(Likely) pathogenic	1 lab	23564acbd7
X:140786558 SPANXD T>C	X	140786558	140786558	T	C	SPANXD	c.5A>G	NM_032417.3	NP_115793.1:p.(Asp2Gly)	NC_000023.10:g.140786558T>C	VUS	1 lab	2356a014e0
9:34372758 MYORG C>T	9	34372758	34372758	C	T	MYORG	c.184G>A	NM_020702.5	NP_065753.2:p.(Val62Ile)	NC_000009.11:g.34372758C>T	(Likely) benign	1 lab	2356f7cf23
11:78189491 NARS2 AGTT>A	11	78189491	78189497	AGTT	A	NARS2	c.949_951del	NM_024678.6	NP_078954.4:p.(Asn317del)	NC_000011.9:g.78189495_78189497del	VUS	1 lab	2357562d65
2:179427645 TTN T>A	2	179427645	179427645	T	A	TTN	c.83214A>T	NM_001267550.2	NP_001254479.2:p.(Arg27738Ser)	NC_000002.11:g.179427645T>A	VUS	1 lab	e68950e3be
2:179546384 TTN C>T	2	179546384	179546384	C	T	TTN	c.33172+4G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179546384C>T	(Likely) benign	1 lab	235b039974
5:178030939 CLK4 C>A	5	178030939	178030939	C	A	CLK4	c.1215-4G>T	NM_020666.3	NP_065717.1:p.?	NC_000005.9:g.178030939C>A	(Likely) benign	1 lab	3f7dd6e562
6:105219083 HACE1 C>T	6	105219083	105219083	C	T	HACE1	c.2196G>A	NM_020771.3	NP_065822.2:p.(Val732=)	NC_000006.11:g.105219083C>T	(Likely) benign	1 lab	235f8b9dc9
18:34273208 FHOD3 C>T	18	34273208	34273208	C	T	FHOD3	c.2058C>T	NM_001281740.2	NP_001268669.1:p.(His686=)	NC_000018.9:g.34273208C>T	(Likely) benign	1 lab	2360d1d1b7
15:65369664 KBTBD13 G>C	15	65369664	65369664	G	C	KBTBD13	c.511G>C	NM_001101362.2	NP_001094832.1:p.(Glu171Gln)	NC_000015.9:g.65369664G>C	(Likely) benign	1 lab	2361a76a40
1:161326532 SDHC G>C	1	161326532	161326532	G	C	SDHC	c.307G>C	NM_003001.5	NP_002992.1:p.(Val103Leu)	NC_000001.10:g.161326532G>C	(Likely) benign	1 lab	e68b39d044
3:184071109 CLCN2 T>A	3	184071109	184071109	T	A	CLCN2	c.1957A>T	NM_004366.5	NP_004357.3:p.(Arg653Ter)	NC_000003.11:g.184071109T>A	(Likely) pathogenic	1 lab	23654f37b6
10:124697568 C10orf88 C>T	10	124697568	124697568	C	T	C10orf88	c.756G>A	NM_024942.4	NP_079218.2:p.(Ser252=)	NC_000010.10:g.124697568C>T	(Likely) benign	1 lab	2365e6b757
7:44736580 OGDH G>A	7	44736580	44736580	G	A	OGDH	c.2001G>A	NM_001363523.1	NP_001350452.1:p.(Ala667=)	NC_000007.13:g.44736580G>A	(Likely) benign	1 lab	236600a484
10:99511131 ZFYVE27 A>G	10	99511131	99511131	A	G	ZFYVE27	c.805-2A>G	NM_001002261.4	NP_001002261.1:p.?	NC_000010.10:g.99511131A>G	VUS	1 lab	e68bdb06a5
8:37623076 PLPBP G>A	8	37623076	37623076	G	A	PLPBP	c.132G>A	NM_001349346.1	NP_001336275.1:p.(Ala44=)	NC_000008.10:g.37623076G>A	(Likely) benign	1 lab	2367efec35
17:76430143 DNAH17 G>A	17	76430143	76430143	G	A	DNAH17	c.12192C>T	NM_173628.3	NP_775899.3:p.(Asn4064=)	NC_000017.10:g.76430143G>A	(Likely) benign	1 lab	236964dfba
X:70387243 NLGN3 C>T	X	70387243	70387243	C	T	NLGN3	c.1296C>T	NM_181303.1	NP_851820.1:p.(Ser432=)	NC_000023.10:g.70387243C>T	(Likely) benign	1 lab	2369d9007f
6:152730259 SYNE1 T>A	6	152730259	152730259	T	A	SYNE1	c.6484A>T	NM_182961.3	NP_892006.3:p.(Ser2162Cys)	NC_000006.11:g.152730259T>A	(Likely) benign	1 lab	236a5a4c43
15:25616732 UBE3A C>A	15	25616732	25616732	C	A	UBE3A	c.598G>T	NM_000462.5	NP_000453.2:p.(Ala200Ser)	NC_000015.9:g.25616732C>A	(Likely) benign	1 lab	236ad350e7
14:64453292 SYNE2 T>C	14	64453292	64453292	T	C	SYNE2	c.2270T>C	NM_182914.2	NP_878918.2:p.(Leu757Ser)	NC_000014.8:g.64453292T>C	VUS	1 lab	236b2ab17b
19:15296201 NOTCH3 C>T	19	15296201	15296201	C	T	NOTCH3	c.2163G>A	NM_000435.2	NP_000426.2:p.(Glu721=)	NC_000019.9:g.15296201C>T	(Likely) benign	1 lab	236be79a05
1:245027235 HNRNPU C>G	1	245027235	245027235	C	G	HNRNPU	c.375G>C	NM_031844.2	NP_114032.2:p.(Glu125Asp)	NC_000001.10:g.245027235C>G	(Likely) benign	1 lab	236c535d9e
15:48784791 FBN1 GA>G	15	48784791	48784800	GA	G	FBN1	c.2729-9del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48784800del	(Likely) benign	1 lab	2370a9f2ba
17:76482323 DNAH17 C>T	17	76482323	76482323	C	T	DNAH17	c.7084G>A	NM_173628.4	NP_775899.3:p.(Ala2362Thr)	NC_000017.10:g.76482323C>T	VUS	1 lab	e68e2dd940
8:101251617 SPAG1 A>T	8	101251617	101251617	A	T	SPAG1	c.2265A>T	NM_003114.4	NP_003105.2:p.(Lys755Asn)	NC_000008.10:g.101251617A>T	VUS	1 lab	23710a3408
16:85689988 GSE1 C>T	16	85689988	85689988	C	T	GSE1	c.1029C>T	NM_014615.4	NP_055430.1:p.(Arg343=)	NC_000016.9:g.85689988C>T	(Likely) benign	1 lab	2372b09732
13:32905145 BRCA2 T>A	13	32905145	32905145	T	A	BRCA2	c.771T>A	NM_000059.3	NP_000050.2:p.(Asn257Lys)	NC_000013.10:g.32905145T>A	(Likely) benign	1 lab	2373ccc7e5
X:91131957 PCDH11X A>T	X	91131957	91131957	A	T	PCDH11X	c.718A>T	NM_032968.4	NP_116750.1:p.(Thr240Ser)	NC_000023.10:g.91131957A>T	(Likely) benign	1 lab	237468a8fb
2:26667616 DRC1 G>A	2	26667616	26667616	G	A	DRC1	c.1196G>A	NM_145038.4	NP_659475.2:p.(Trp399Ter)	NC_000002.11:g.26667616G>A	(Likely) pathogenic	1 lab	23749fbf96
20:45174066 OCSTAMP G>A	20	45174066	45174066	G	A	OCSTAMP	c.947C>T	NM_080721.2	NP_542452.1:p.(Ala316Val)	NC_000020.10:g.45174066G>A	(Likely) benign	1 lab	2375b9701b
16:2550287 TBC1D24 C>T	16	2550287	2550287	C	T	TBC1D24	c.1321C>T	NM_001199107.1	NP_001186036.1:p.(Arg441Cys)	NC_000016.9:g.2550287C>T	VUS	1 lab	2375edd63b
13:114322140 GRK1 C>T	13	114322140	114322140	C	T	GRK1	c.439C>T	NM_002929.3	NP_002920.1:p.(Gln147Ter)	NC_000013.10:g.114322140C>T	(Likely) benign	1 lab	237821ac9c
2:189849623 COL3A1 G>C	2	189849623	189849623	G	C	COL3A1	c.217G>C	NM_000090.3	NP_000081.1:p.(Asp73His)	NC_000002.11:g.189849623G>C	VUS	1 lab	2378744bd5
3:53736680 CACNA1D G>A	3	53736680	53736680	G	A	CACNA1D	c.1233G>A	NM_001128840.3	NP_001122312.1:p.(Lys411=)	NC_000003.11:g.53736680G>A	(Likely) benign	1 lab	237886c898
17:6331739 AIPL1 C>G	17	6331739	6331739	C	G	AIPL1	c.364G>C	NM_014336.4	NP_055151.3:p.(Gly122Arg)	NC_000017.10:g.6331739C>G	VUS	1 lab	2378b90e2f
7:70228055 AUTS2 A>G	7	70228055	70228055	A	G	AUTS2	c.942A>G	NM_001127231.2	NP_001120703.1:p.(Gln314=)	NC_000007.13:g.70228055A>G	(Likely) benign	1 lab	237ad6a048
1:41285652 KCNQ4 C>A	1	41285652	41285652	C	A	KCNQ4	c.940C>A	NM_004700.3	NP_004691.2:p.(Pro314Thr)	NC_000001.10:g.41285652C>A	VUS	1 lab	237bd8c174
12:88512494 CEP290 A>G	12	88512494	88512494	A	G	CEP290	c.1549T>C	NM_025114.3	NP_079390.3:p.(Leu517=)	NC_000012.11:g.88512494A>G	(Likely) benign	1 lab	237c80663b
16:72130103 DHX38 C>G	16	72130103	72130103	C	G	DHX38	c.47C>G	NM_014003.3	NP_054722.2:p.(Thr16Ser)	NC_000016.9:g.72130103C>G	(Likely) benign	1 lab	237fcb485a
9:138662736 KCNT1 G>A	9	138662736	138662736	G	A	KCNT1	c.1803G>A	NM_020822.2	NP_065873.2:p.(Glu601=)	NC_000009.11:g.138662736G>A	(Likely) benign	1 lab	2380d2db35
14:74972767 LTBP2 G>A	14	74972767	74972767	G	A	LTBP2	c.4161C>T	NM_000428.2	NP_000419.1:p.(Arg1387=)	NC_000014.8:g.74972767G>A	(Likely) benign	1 lab	23820a7eb1
X:12516819 FRMPD4 G>C	X	12516819	12516819	G	C	FRMPD4	c.62G>C	NM_014728.3	NP_055543.2:p.(Gly21Ala)	NC_000023.10:g.12516819G>C	VUS	1 lab	23831991cf
3:197408755 RUBCN C>T	3	197408755	197408755	C	T	RUBCN	c.2007G>A	NM_001145642.4	NP_001139114.1:p.(Val669=)	NC_000003.11:g.197408755C>T	(Likely) benign	1 lab	2383606e88
16:30715445 SRCAP G>A	16	30715445	30715445	G	A	SRCAP	c.115G>A	NM_006662.2	NP_006653.2:p.(Ala39Thr)	NC_000016.9:g.30715445G>A	(Likely) benign	1 lab	23846c16b0
X:70367769 NLGN3 C>T	X	70367769	70367769	C	T	NLGN3	c.170C>T	NM_181303.1	NP_851820.1:p.(Pro57Leu)	NC_000023.10:g.70367769C>T	(Likely) benign	1 lab	2386e4eeb1
2:172314475 DCAF17 C>T	2	172314475	172314475	C	T	DCAF17	c.628-6C>T	NM_025000.3	NP_079276.2:p.?	NC_000002.11:g.172314475C>T	(Likely) benign	1 lab	23871e97a5
5:149263087 PDE6A C>G	5	149263087	149263087	C	G	PDE6A	c.2040G>C	NM_000440.2	NP_000431.2:p.(Met680Ile)	NC_000005.9:g.149263087C>G	VUS	1 lab	2388251623
7:141315285 AGK G>T	7	141315285	141315285	G	T	AGK	c.438G>T	NM_018238.4	NP_060708.1:p.(Lys146Asn)	NC_000007.13:g.141315285G>T	VUS	1 lab	238b1912dc
1:17350569 SDHB C>T	1	17350569	17350569	C	T	SDHB	c.541G>A	NM_003000.2	NP_002991.2:p.(Asp181Asn)	NC_000001.10:g.17350569C>T	VUS	1 lab	238b8bcfe3
17:39921027 JUP G>C	17	39921027	39921027	G	C	JUP	c.1096C>G	NM_021991.2	NP_068831.1:p.(Pro366Ala)	NC_000017.10:g.39921027G>C	(Likely) benign	1 lab	238c62da0b
15:48426734 SLC24A5 C>T	15	48426734	48426734	C	T	SLC24A5	c.488C>T	NM_205850.2	NP_995322.1:p.(Thr163Met)	NC_000015.9:g.48426734C>T	(Likely) benign	1 lab	238d81ea98
X:46360753 ZNF674 C>T	X	46360753	46360753	C	T	ZNF674	c.271G>A	NM_001039891.2	NP_001034980.1:p.(Glu91Lys)	NC_000023.10:g.46360753C>T	(Likely) benign	1 lab	238f121191
9:107593270 ABCA1 C>T	9	107593270	107593270	C	T	ABCA1	c.1828G>A	NM_005502.3	NP_005493.2:p.(Gly610Ser)	NC_000009.11:g.107593270C>T	VUS	1 lab	238f4f2c1a
X:153587690 FLNA G>A	X	153587690	153587690	G	A	FLNA	c.4227C>T	NM_001110556.2	NP_001104026.1:p.(Ser1409=)	NC_000023.10:g.153587690G>A	(Likely) benign	1 lab	2391f5a5e4
7:2946463 CARD11 G>A	7	2946463	2946463	G	A	CARD11	c.3274C>T	NM_001324281.1	NP_001311210.1:p.(Arg1092Ter)	NC_000007.13:g.2946463G>A	VUS	1 lab	2392804643
15:82934598 MISSING A>G	15	82934598	82934598	A	G	MISSING				NC_000015.9:g.82934598A>G	(Likely) benign	1 lab	2392b0f245
16:71163665 HYDIN T>C	16	71163665	71163665	T	C	HYDIN	c.1105A>G	NM_001270974.2	NP_001257903.1:p.(Ile369Val)	NC_000016.9:g.71163665T>C	VUS	1 lab	23946da280
4:85418910 NKX6-1 CCAGCAGCCCCGCCGGGGATGAGGCGGCGGCTGCGGCCGCGG>C	4	85418910	85418959	CCAGCAGCCCCGCCGGGGATGAGGCGGCGGCTGCGGCCGCGG	C	NKX6-1	c.431_471del	NM_006168.3	NP_006159.2:p.(Ala144GlyfsTer7)	NC_000004.11:g.85418919_85418959del	VUS	1 lab	2395590e11
X:10085539 WWC3 G>A	X	10085539	10085539	G	A	WWC3	c.1440G>A	NM_015691.3	NP_056506.2:p.(Pro480=)	NC_000023.10:g.10085539G>A	(Likely) benign	1 lab	239571e3bb
3:79174619 ROBO1 C>T	3	79174619	79174619	C	T	ROBO1	c.159G>A	NM_002941.4	NP_002932.1:p.(Ser53=)	NC_000003.11:g.79174619C>T	(Likely) benign	1 lab	e6903dabb0
15:85383783 ALPK3 G>A	15	85383783	85383783	G	A	ALPK3	c.1879G>A	NM_020778.4	NP_065829.3:p.(Ala627Thr)	NC_000015.9:g.85383783G>A	(Likely) benign	1 lab	2397dba152
17:42428176 GRN A>T	17	42428176	42428176	A	T	GRN	c.708+8A>T	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428176A>T	(Likely) benign	1 lab	23982fea70
22:37331468 CSF2RB G>A	22	37331468	37331468	G	A	CSF2RB	c.1391G>A	NM_000395.2	NP_000386.1:p.(Gly464Asp)	NC_000022.10:g.37331468G>A	(Likely) benign	1 lab	23984abe0e
17:48265328 COL1A1 C>T	17	48265328	48265328	C	T	COL1A1	c.3278G>A	NM_000088.3	NP_000079.2:p.(Arg1093His)	NC_000017.10:g.48265328C>T	VUS	1 lab	2398935529
2:27448083 CAD C>T	2	27448083	27448083	C	T	CAD	c.1592C>T	NM_004341.4	NP_004332.2:p.(Pro531Leu)	NC_000002.11:g.27448083C>T	(Likely) benign	1 lab	23989f2fa1
8:68015312 CSPP1 C>T	8	68015312	68015312	C	T	CSPP1	c.883C>T	NM_001363131.1	NP_001350060.1:p.(His295Tyr)	NC_000008.10:g.68015312C>T	(Likely) benign	1 lab	239c9622df
4:123150288 BLTP1 C>T	4	123150288	123150288	C	T	BLTP1	c.2935C>T	NM_015312.3	NP_056127.2:p.(Pro979Ser)	NC_000004.11:g.123150288C>T	VUS	1 lab	23d28716fd
14:50100786 DNAAF2 A>G	14	50100786	50100786	A	G	DNAAF2	c.1082T>C	NM_018139.2	NP_060609.2:p.(Val361Ala)	NC_000014.8:g.50100786A>G	VUS	1 lab	239e4ef391
X:49455945 PAGE1 C>T	X	49455945	49455945	C	T	PAGE1	c.199G>A	NM_003785.3	NP_003776.2:p.(Val67Ile)	NC_000023.10:g.49455945C>T	(Likely) benign	1 lab	239ea12eba
12:111885300 SH2B3 G>A	12	111885300	111885300	G	A	SH2B3	c.1188G>A	NM_005475.2	NP_005466.1:p.(Thr396=)	NC_000012.11:g.111885300G>A	(Likely) benign	1 lab	239fadaad4
X:51638649 MAGED1 G>A	X	51638649	51638649	G	A	MAGED1	c.714G>A	NM_001005333.1	NP_001005333.1:p.(Lys238=)	NC_000023.10:g.51638649G>A	(Likely) benign	1 lab	239fee31ed
2:227966603 COL4A4 G>A	2	227966603	227966603	G	A	COL4A4	c.953C>T	NM_000092.4	NP_000083.3:p.(Ser318Phe)	NC_000002.11:g.227966603G>A	VUS	1 lab	239ffba183
18:8380432 PTPRM C>G	18	8380432	8380432	C	G	PTPRM	c.3918+7C>G	NM_001105244.1	NP_001098714.1:p.?	NC_000018.9:g.8380432C>G	(Likely) benign	1 lab	23a0a38f6e
8:10468635 RP1L1 C>T	8	10468635	10468635	C	T	RP1L1	c.2973G>A	NM_178857.5	NP_849188.4:p.(Glu991=)	NC_000008.10:g.10468635C>T	(Likely) benign	1 lab	23a1c6fd4c
16:20986564 DNAH3 T>C	16	20986564	20986564	T	C	DNAH3	c.8112A>G	NM_001347886.1	NP_001334815.1:p.(Gln2704=)	NC_000016.9:g.20986564T>C	(Likely) benign	1 lab	23a1c8b46d
6:132171120 ENPP1 A>AT	6	132171120	132171126	A	AT	ENPP1	c.314-4dup	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132171126dup	(Likely) benign	1 lab	23a3847d87
9:123177356 CDK5RAP2 C>A	9	123177356	123177356	C	A	CDK5RAP2	c.4259G>T	NM_018249.5	NP_060719.4:p.(Arg1420Leu)	NC_000009.11:g.123177356C>A	VUS	1 lab	23a3d31b16
X:124455903 TEX13C G>T	X	124455903	124455903	G	T	TEX13C	c.1935G>T	NM_001195272.2	NP_001182201.1:p.(Gly645=)	NC_000023.10:g.124455903G>T	(Likely) benign	1 lab	23a4bb9dbb
12:124824721 NCOR2 C>CGCCGCTGCTGCCGCTGCT	12	124824721	124824739	C	CGCCGCTGCTGCCGCTGCT	NCOR2	c.5500_5517dup	NM_006312.5	NP_006303.4:p.(Ser1834_Gly1839dup)	NC_000012.11:g.124824722_124824739dup	VUS	1 lab	23a4c17414
2:98355946 ZAP70 G>A	2	98355946	98355946	G	A	ZAP70	c.1845G>A	NM_001079.3	NP_001070.2:p.(Glu615=)	NC_000002.11:g.98355946G>A	(Likely) benign	1 lab	23a4da10b8
7:139657486 TBXAS1 C>T	7	139657486	139657486	C	T	TBXAS1	c.745C>T	NM_001130966.2	NP_001124438.1:p.(Arg249Ter)	NC_000007.13:g.139657486C>T	(Likely) pathogenic	1 lab	23a6602cbe
5:72469238 TMEM174 C>T	5	72469238	72469238	C	T	TMEM174	c.168C>T	NM_153217.3	NP_694949.1:p.(Val56=)	NC_000005.9:g.72469238C>T	(Likely) benign	1 lab	23a67da6ef
3:186256717 CRYGS C>T	3	186256717	186256717	C	T	CRYGS	c.305G>A	NM_017541.3	NP_060011.1:p.(Gly102Glu)	NC_000003.11:g.186256717C>T	VUS	1 lab	23a713be0d
10:78799303 KCNMA1 G>A	10	78799303	78799303	G	A	KCNMA1	c.1842C>T	NM_001322830.1	NP_001309759.1:p.(Ser614=)	NC_000010.10:g.78799303G>A	(Likely) benign	1 lab	23a78c24d8
16:2129632 TSC2 T>A	16	2129632	2129632	T	A	TSC2	c.3359T>A	NM_000548.3	NP_000539.2:p.(Val1120Glu)	NC_000016.9:g.2129632T>A	VUS	1 lab	23a8d27c6d
3:119084271 ARHGAP31 C>T	3	119084271	119084271	C	T	ARHGAP31	c.203+6C>T	NM_020754.3	NP_065805.2:p.?	NC_000003.11:g.119084271C>T	(Likely) benign	1 lab	23a990cf0b
10:71703882 COL13A1 G>A	10	71703882	71703882	G	A	COL13A1	c.1883G>A	NM_001130103.1	NP_001123575.1:p.(Gly628Asp)	NC_000010.10:g.71703882G>A	VUS	1 lab	23a9932341
4:88996731 PKD2 C>T	4	88996731	88996731	C	T	PKD2	c.2792C>T	NM_000297.3	NP_000288.1:p.(Thr931Met)	NC_000004.11:g.88996731C>T	VUS	1 lab	23ab9a2bd8
16:81979876 PLCG2 G>C	16	81979876	81979876	G	C	PLCG2	c.3570+8G>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81979876G>C	(Likely) benign	1 lab	23ad72dc76
9:79929558 VPS13A C>A	9	79929558	79929558	C	A	VPS13A	c.4390C>A	NM_033305.2	NP_150648.2:p.(His1464Asn)	NC_000009.11:g.79929558C>A	(Likely) benign	1 lab	23adaac062
7:146537004 CNTNAP2 A>G	7	146537004	146537004	A	G	CNTNAP2	c.402+8A>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.146537004A>G	(Likely) benign	1 lab	23b29657c5
10:124753580 IKZF5 G>T	10	124753580	124753580	G	T	IKZF5	c.976C>A	NM_001271840.1	NP_001258769.1:p.(Pro326Thr)	NC_000010.10:g.124753580G>T	VUS	1 lab	23b4967e2e
10:55566571 PCDH15 A>AT	10	55566571	55566577	A	AT	PCDH15	c.4924dup	NM_001354429.1	NP_001341358.1:p.(Met1642AsnfsTer18)	NC_000010.10:g.55566577dup	(Likely) pathogenic	1 lab	23b5a6cf1d
X:107462929 COL4A6 G>A	X	107462929	107462929	G	A	COL4A6	c.323C>T	NM_001287758.1	NP_001274687.1:p.(Pro108Leu)	NC_000023.10:g.107462929G>A	(Likely) benign	1 lab	23b630329d
X:111698190 RTL4 G>A	X	111698190	111698190	G	A	RTL4	c.234G>A	NM_001004308.2	NP_001004308.2:p.(Val78=)	NC_000023.10:g.111698190G>A	(Likely) benign	1 lab	23bd30bd31
3:4452542 SUMF1 T>C	3	4452542	4452542	T	C	SUMF1	c.954+7A>G	NM_182760.3	NP_877437.2:p.?	NC_000003.11:g.4452542T>C	(Likely) benign	1 lab	23bdc5fdbc
20:2378669 TGM6 G>A	20	2378669	2378669	G	A	TGM6	c.649G>A	NM_198994.2	NP_945345.2:p.(Val217Ile)	NC_000020.10:g.2378669G>A	(Likely) benign	1 lab	23be552e6c
X:48673389 HDAC6 G>A	X	48673389	48673389	G	A	HDAC6	c.1080G>A	NM_001321226.1	NP_001308155.1:p.(Pro360=)	NC_000023.10:g.48673389G>A	(Likely) benign	1 lab	23bfc536b1
14:23886176 MYH7 C>T	14	23886176	23886176	C	T	MYH7	c.4545G>A	NM_000257.2	NP_000248.2:p.(Gln1515=)	NC_000014.8:g.23886176C>T	VUS	1 lab	23bfd12846
4:3520630 LRPAP1 T>C	4	3520630	3520630	T	C	LRPAP1	c.560A>G	NM_002337.4	NP_002328.1:p.(Asn187Ser)	NC_000004.11:g.3520630T>C	VUS	1 lab	23c0369f86
13:114778662 RASA3 C>T	13	114778662	114778662	C	T	RASA3	c.1468G>A	NM_007368.4	NP_031394.2:p.(Ala490Thr)	NC_000013.10:g.114778662C>T	VUS	1 lab	23c0eba8bd
1:216246638 USH2A G>A	1	216246638	216246638	G	A	USH2A	c.5577C>T	NM_206933.2	NP_996816.2:p.(Phe1859=)	NC_000001.10:g.216246638G>A	VUS	1 lab	23c3395445
18:42281554 SETBP1 G>A	18	42281554	42281554	G	A	SETBP1	c.243G>A	NM_015559.3	NP_056374.2:p.(Val81=)	NC_000018.9:g.42281554G>A	(Likely) benign	1 lab	23daf6171e
3:129214302 IFT122 G>A	3	129214302	129214302	G	A	IFT122	c.2213G>A	NM_052985.3	NP_443711.2:p.(Arg738Gln)	NC_000003.11:g.129214302G>A	(Likely) benign	1 lab	23c6c4f2a5
8:145541815 DGAT1 C>T	8	145541815	145541815	C	T	DGAT1	c.694G>A	NM_012079.5	NP_036211.2:p.(Ala232Thr)	NC_000008.10:g.145541815C>T	VUS	1 lab	23c8970052
12:28116364 PTHLH C>T	12	28116364	28116364	C	T	PTHLH	c.441G>A	NM_198966.1	NP_945317.1:p.(Trp147Ter)	NC_000012.11:g.28116364C>T	(Likely) pathogenic	1 lab	23c8c0c492
11:2924591 SLC67A1 G>A	11	2924591	2924591	G	A	SLC67A1	c.271G>A	NM_001315501.2	NP_001302430.1:p.(Ala91Thr)	NC_000011.9:g.2924591G>A	(Likely) benign	1 lab	e695014094
17:29592266 NF1 G>T	17	29592266	29592266	G	T	NF1	c.4681G>T	NM_000267.3	NP_000258.1:p.(Glu1561Ter)	NC_000017.10:g.29592266G>T	(Likely) pathogenic	1 lab	23c9eb02c6
12:49447387 KMT2D C>T	12	49447387	49447387	C	T	KMT2D	c.711G>A	NM_003482.3	NP_003473.3:p.(Glu237=)	NC_000012.11:g.49447387C>T	(Likely) benign	1 lab	23ca9a087a
10:24831837 KIAA1217 G>C	10	24831837	24831837	G	C	KIAA1217	c.3638G>C	NM_019590.5	NP_062536.2:p.(Ser1213Thr)	NC_000010.10:g.24831837G>C	(Likely) benign	1 lab	23cb8e4b56
17:1378102 MYO1C T>C	17	1378102	1378102	T	C	MYO1C	c.1716+4A>G	NM_001080779.2	NP_001074248.1:p.?	NC_000017.10:g.1378102T>C	(Likely) benign	1 lab	e6967c2fce
20:62293862 RTEL1 C>T	20	62293862	62293862	C	T	RTEL1	c.431C>T	NM_032957.4	NP_116575.3:p.(Thr144Ile)	NC_000020.10:g.62293862C>T	(Likely) benign	1 lab	23ceadc134
15:23890299 MAGEL2 G>T	15	23890299	23890299	G	T	MAGEL2	c.2591C>A	NM_019066.4	NP_061939.3:p.(Ala864Glu)	NC_000015.9:g.23890299G>T	VUS	1 lab	23ceb55c8b
10:69366706 CTNNA3 C>A	10	69366706	69366706	C	A	CTNNA3	c.201G>T	NM_013266.4	NP_037398.2:p.(Trp67Cys)	NC_000010.10:g.69366706C>A	VUS	1 lab	e69a16897a
6:112493980 LAMA4 G>T	6	112493980	112493980	G	T	LAMA4	c.1384C>A	NM_001105206.2	NP_001098676.2:p.(Arg462=)	NC_000006.11:g.112493980G>T	(Likely) benign	1 lab	23cf2edbb7
17:29508508 NF1 G>GT	17	29508508	29508509	G	GT	NF1	c.654+2dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508509dup	(Likely) pathogenic	1 lab	23d114c3d4
17:76450635 DNAH17 G>A	17	76450635	76450635	G	A	DNAH17	c.10323C>T	NM_173628.3	NP_775899.3:p.(Ile3441=)	NC_000017.10:g.76450635G>A	(Likely) benign	1 lab	23d13b02ec
X:153792178 IKBKG G>A	X	153792178	153792178	G	A	IKBKG	c.1060G>A	NM_001099857.2	NP_001093327.1:p.(Glu354Lys)	NC_000023.10:g.153792178G>A	VUS	1 lab	23d4335094
9:136223267 SURF1 G>C	9	136223267	136223267	G	C	SURF1	c.54+9C>G	NM_003172.3	NP_003163.1:p.?	NC_000009.11:g.136223267G>C	(Likely) benign	1 lab	23d54ec5c8
17:26919752 SPAG5 C>T	17	26919752	26919752	C	T	SPAG5	c.510G>A	NM_006461.4	NP_006452.3:p.(Val170=)	NC_000017.10:g.26919752C>T	(Likely) benign	1 lab	23d555e6ab
2:86509339 REEP1 G>T	2	86509339	86509339	G	T	REEP1	c.59C>A	NM_022912.2	NP_075063.1:p.(Ala20Glu)	NC_000002.11:g.86509339G>T	(Likely) pathogenic	1 lab	23d81f3ad0
12:55945876 OR6C4 C>G	12	55945876	55945876	C	G	OR6C4	c.866C>G	NM_001005494.1	NP_001005494.1:p.(Thr289Ser)	NC_000012.11:g.55945876C>G	(Likely) benign	1 lab	23d83e324b
18:685933 ENOSF1 C>T	18	685933	685933	C	T	ENOSF1	c.729G>A	NM_017512.7	NP_059982.2:p.(Pro243=)	NC_000018.9:g.685933C>T	(Likely) benign	1 lab	23d93114ea
11:76905526 MYO7A C>T	11	76905526	76905526	C	T	MYO7A	c.4280C>T	NM_000260.3	NP_000251.3:p.(Thr1427Met)	NC_000011.9:g.76905526C>T	VUS	1 lab	23d98cc1c8
19:9524348 ZNF266 G>A	19	9524348	9524348	G	A	ZNF266	c.1253C>T	NM_006631.3	NP_006622.2:p.(Ala418Val)	NC_000019.9:g.9524348G>A	(Likely) benign	1 lab	23da00f670
3:78701089 ROBO1 C>T	3	78701089	78701089	C	T	ROBO1	c.2507-10G>A	NM_133631.3	NP_598334.2:p.?	NC_000003.11:g.78701089C>T	(Likely) benign	1 lab	23dc33a253
16:57695841 ADGRG1 G>A	16	57695841	57695841	G	A	ADGRG1	c.1897G>A	NM_001145772.2	NP_001139244.1:p.(Val633Ile)	NC_000016.9:g.57695841G>A	(Likely) benign	1 lab	23ddc4e765
11:46889538 LRP4 C>T	11	46889538	46889538	C	T	LRP4	c.5079G>A	NM_002334.3	NP_002325.2:p.(Val1693=)	NC_000011.9:g.46889538C>T	(Likely) benign	1 lab	23e0676958
6:54805475 SACK1B T>C	6	54805475	54805475	T	C	SACK1B	c.1706T>C	NM_001010872.3	NP_001010872.1:p.(Ile569Thr)	NC_000006.11:g.54805475T>C	(Likely) benign	1 lab	23e1cebbb5
8:61769149 CHD7 G>T	8	61769149	61769149	G	T	CHD7				NC_000008.10:g.61769149G>T	VUS	1 lab	23e208dacf
X:153137616 L1CAM T>C	X	153137616	153137616	T	C	L1CAM	c.391A>G	NM_000425.4	NP_000416.1:p.(Met131Val)	NC_000023.10:g.153137616T>C	(Likely) benign	1 lab	23e239d1fb
21:47648418 LSS G>C	21	47648418	47648418	G	C	LSS	c.110C>G	NM_002340.6	NP_002331.3:p.(Thr37Ser)	NC_000021.8:g.47648418G>C	VUS	1 lab	23e26abfd1
1:94564355 ABCA4 G>A	1	94564355	94564355	G	A	ABCA4	c.763C>T	NM_000350.2	NP_000341.2:p.(Arg255Cys)	NC_000001.10:g.94564355G>A	VUS	1 lab	23e2ac257b
6:152631649 SYNE1 A>G	6	152631649	152631649	A	G	SYNE1	c.16901T>C	NM_182961.3	NP_892006.3:p.(Met5634Thr)	NC_000006.11:g.152631649A>G	VUS	1 lab	23e94faf16
1:39785424 MACF1 C>A	1	39785424	39785424	C	A	MACF1	c.4044+5C>A	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39785424C>A	(Likely) benign	1 lab	23e9c564ef
X:44929403 KDM6A C>T	X	44929403	44929403	C	T	KDM6A	c.2659C>T	NM_001291415.1	NP_001278344.1:p.(Gln887Ter)	NC_000023.10:g.44929403C>T	(Likely) pathogenic	1 lab	23ea49ee15
5:14368975 TRIO C>T	5	14368975	14368975	C	T	TRIO	c.3033C>T	NM_007118.4	NP_009049.2:p.(Asn1011=)	NC_000005.9:g.14368975C>T	(Likely) benign	1 lab	e69b5b4081
5:137522980 KIF20A C>T	5	137522980	137522980	C	T	KIF20A	c.2551C>T	NM_005733.3	NP_005724.1:p.(Arg851Ter)	NC_000005.9:g.137522980C>T	VUS	1 lab	23eb1da7e2
14:68215187 ZFYVE26 G>C	14	68215187	68215187	G	C	ZFYVE26	c.7586C>G	NM_015346.3	NP_056161.2:p.(Pro2529Arg)	NC_000014.8:g.68215187G>C	(Likely) benign	1 lab	23ebd01afd
1:152277663 FLG C>T	1	152277663	152277663	C	T	FLG	c.9699G>A	NM_002016.1	NP_002007.1:p.(Gly3233=)	NC_000001.10:g.152277663C>T	(Likely) benign	1 lab	23ebfd5b4b
17:78311503 RNF213 C>A	17	78311503	78311503	C	A	RNF213	c.4645C>A	NM_001256071.2	NP_001243000.2:p.(Gln1549Lys)	NC_000017.10:g.78311503C>A	(Likely) benign	1 lab	23ed1f5f69
14:105418818 AHNAK2 G>A	14	105418818	105418818	G	A	AHNAK2	c.2970C>T	NM_138420.3	NP_612429.2:p.(Asp990=)	NC_000014.8:g.105418818G>A	(Likely) benign	1 lab	23ee048e7d
2:240024577 HDAC4 T>C	2	240024577	240024577	T	C	HDAC4	c.2113A>G	NM_006037.4	NP_006028.2:p.(Lys705Glu)	NC_000002.11:g.240024577T>C	VUS	1 lab	e69e4637b4
7:117292959 CFTR C>T	7	117292959	117292959	C	T	CFTR	c.3937C>T	NM_000492.3	NP_000483.3:p.(Gln1313Ter)	NC_000007.13:g.117292959C>T	(Likely) pathogenic	1 lab	23f157b182
9:135781435 TSC1 GTC>G	9	135781435	135781439	GTC	G	TSC1	c.1528_1529del	NM_000368.5	NP_000359.1:p.(Asp510GlnfsTer24)	NC_000009.11:g.135781438_135781439del	(Likely) pathogenic	1 lab	23f22664ba
4:84185395 COQ2 GTCT>G	4	84185395	84185402	GTCT	G	COQ2	c.1070_1072del	NM_001358921.2	NP_001345850.1:p.(Lys357del)	NC_000004.11:g.84185400_84185402del	VUS	1 lab	23f42a1765
12:7890067 CLEC4C C>T	12	7890067	7890067	C	T	CLEC4C	c.339G>A	NM_130441.2	NP_569708.1:p.(Val113=)	NC_000012.11:g.7890067C>T	(Likely) benign	1 lab	23f4c1dbb5
4:79462184 FRAS1 C>T	4	79462184	79462184	C	T	FRAS1	c.11945C>T	NM_025074.7	NP_079350.5:p.(Pro3982Leu)	NC_000004.11:g.79462184C>T	(Likely) benign	1 lab	23f5178964
13:23907834 SACS T>C	13	23907834	23907834	T	C	SACS	c.10181A>G	NM_014363.5	NP_055178.3:p.(Asn3394Ser)	NC_000013.10:g.23907834T>C	VUS	1 lab	23f8347c4f
15:57565313 TCF12 C>T	15	57565313	57565313	C	T	TCF12	c.1657C>T	NM_001322156.1	NP_001309085.1:p.(Arg553Cys)	NC_000015.9:g.57565313C>T	VUS	1 lab	23f99d8f6c
5:38968096 RICTOR G>A	5	38968096	38968096	G	A	RICTOR	c.1009C>T	NM_001285439.1	NP_001272368.1:p.(Leu337Phe)	NC_000005.9:g.38968096G>A	VUS	1 lab	2421fb5e16
11:118963189 HMBS ACT>A	11	118963189	118963193	ACT	A	HMBS	c.730_731del	NM_000190.4	NP_000181.2:p.(Leu244AlafsTer6)	NC_000011.9:g.118963192_118963193del	(Likely) pathogenic	1 lab	2400725b76
7:92462585 CDK6 T>G	7	92462585	92462585	T	G	CDK6	c.53A>C	NM_001145306.1	NP_001138778.1:p.(Glu18Ala)	NC_000007.13:g.92462585T>G	VUS	1 lab	24028ce1dc
11:73820166 C2CD3 T>C	11	73820166	73820166	T	C	C2CD3	c.1875A>G	NM_001286577.1	NP_001273506.1:p.(Pro625=)	NC_000011.9:g.73820166T>C	(Likely) benign	1 lab	240383cc68
16:29001288 LAT G>A	16	29001288	29001288	G	A	LAT	c.744G>A	NM_014387.3	NP_055202.1:p.(Glu248=)	NC_000016.9:g.29001288G>A	(Likely) benign	1 lab	2405e86da3
3:46037206 FYCO1 G>T	3	46037206	46037206	G	T	FYCO1	c.-113+8C>A	NM_024513.3	NP_078789.2:p.?	NC_000003.11:g.46037206G>T	(Likely) benign	1 lab	2405f8e80a
X:152721744 HAUS7 C>T	X	152721744	152721744	C	T	HAUS7	c.714G>A	NM_017518.7	NP_059988.3:p.(Lys238=)	NC_000023.10:g.152721744C>T	(Likely) benign	1 lab	240605ee91
X:152823641 ATP2B3 C>T	X	152823641	152823641	C	T	ATP2B3	c.2505C>T	NM_021949.3	NP_068768.2:p.(Ile835=)	NC_000023.10:g.152823641C>T	(Likely) benign	1 lab	240613fe64
16:3779203 CREBBP C>T	16	3779203	3779203	C	T	CREBBP	c.5845G>A	NM_004380.2	NP_004371.2:p.(Ala1949Thr)	NC_000016.9:g.3779203C>T	VUS	1 lab	2407352f64
11:75141414 KLHL35 T>TACTGGCACC	11	75141414	75141434	T	TACTGGCACC	KLHL35	c.252_260dup	NM_001039548.2	NP_001034637.2:p.(Val85_Val87dup)	NC_000011.9:g.75141426_75141434dup	VUS	1 lab	2407840613
19:42872728 MEGF8 G>A	19	42872728	42872728	G	A	MEGF8	c.6395G>A	NM_001271938.2	NP_001258867.1:p.(Arg2132Gln)	NC_000019.9:g.42872728G>A	VUS	1 lab	2408958096
4:5754733 EVC G>A	4	5754733	5754733	G	A	EVC	c.1269G>A	NM_153717.2	NP_714928.1:p.(Thr423=)	NC_000004.11:g.5754733G>A	(Likely) benign	1 lab	2408e5f746
20:13775530 NDUFAF5 A>G	20	13775530	13775530	A	G	NDUFAF5	c.422A>G	NM_024120.5	NP_077025.2:p.(Asp141Gly)	NC_000020.10:g.13775530A>G	VUS	1 lab	e6a1e5af79
12:49440074 KMT2D C>T	12	49440074	49440074	C	T	KMT2D	c.4552G>A	NM_003482.3	NP_003473.3:p.(Asp1518Asn)	NC_000012.11:g.49440074C>T	VUS	1 lab	240950da5f
18:21394391 LAMA3 G>A	18	21394391	21394391	G	A	LAMA3	c.1813G>A	NM_198129.2	NP_937762.2:p.(Val605Ile)	NC_000018.9:g.21394391G>A	VUS	1 lab	240be792f1
1:5940228 NPHP4 C>A	1	5940228	5940228	C	A	NPHP4	c.2557G>T	NM_015102.4	NP_055917.1:p.(Asp853Tyr)	NC_000001.10:g.5940228C>A	VUS	1 lab	240c709b73
12:58025904 B4GALNT1 G>A	12	58025904	58025904	G	A	B4GALNT1	c.12C>T	NM_001478.4	NP_001469.1:p.(Gly4=)	NC_000012.11:g.58025904G>A	(Likely) benign	1 lab	240d0178f2
7:82584762 PCLO G>T	7	82584762	82584762	G	T	PCLO	c.5507C>A	NM_033026.5	NP_149015.2:p.(Ala1836Glu)	NC_000007.13:g.82584762G>T	VUS	1 lab	240d055008
2:27446872 CAD A>G	2	27446872	27446872	A	G	CAD	c.1083A>G	NM_004341.4	NP_004332.2:p.(Thr361=)	NC_000002.11:g.27446872A>G	(Likely) benign	1 lab	240d9ac65d
4:106395202 PPA2 GC>G	4	106395202	106395203	GC	G	PPA2	c.5del	NM_176869.3	NP_789845.1:p.(Ser2ThrfsTer54)	NC_000004.11:g.106395203del	(Likely) pathogenic	1 lab	240dd798d3
13:110813536 COL4A1 C>A	13	110813536	110813536	C	A	COL4A1	c.4640+3G>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110813536C>A	VUS	1 lab	240eca619d
11:76804759 CAPN5 A>G	11	76804759	76804759	A	G	CAPN5	c.197A>G	NM_004055.4	NP_004046.2:p.(Asp66Gly)	NC_000011.9:g.76804759A>G	(Likely) benign	1 lab	2410330124
1:236175290 NID1 TGTTGTAGCAGAAGGC>T	1	236175290	236175307	TGTTGTAGCAGAAGGC	T	NID1	c.2443_2457del	NM_002508.3	NP_002499.2:p.(Ala815_Asn819del)	NC_000001.10:g.236175293_236175307del	VUS	1 lab	24108f7a9f
10:79397370 KCNMA1 T>C	10	79397370	79397370	T	C	KCNMA1	c.31A>G	NM_001322830.1	NP_001309759.1:p.(Ser11Gly)	NC_000010.10:g.79397370T>C	(Likely) benign	1 lab	24117ab6fa
1:47882114 FOXE3 G>A	1	47882114	47882114	G	A	FOXE3	c.127G>A	NM_012186.2	NP_036318.1:p.(Glu43Lys)	NC_000001.10:g.47882114G>A	(Likely) benign	1 lab	24121f73b0
X:18660283 RS1 A>G	X	18660283	18660283	A	G	RS1	c.523-7T>C	NM_000330.3	NP_000321.1:p.?	NC_000023.10:g.18660283A>G	(Likely) benign	1 lab	24125fdb62
12:133237641 POLE C>T	12	133237641	133237641	C	T	POLE	c.2974G>A	NM_006231.3	NP_006222.2:p.(Ala992Thr)	NC_000012.11:g.133237641C>T	(Likely) benign	1 lab	24139aad03
2:26508330 HADHB G>A	2	26508330	26508330	G	A	HADHB	c.1214G>A	NM_001281513.1	NP_001268442.1:p.(Gly405Glu)	NC_000002.11:g.26508330G>A	VUS	1 lab	24154fccbe
7:6189483 USP42 C>T	7	6189483	6189483	C	T	USP42	c.1656C>T	NM_032172.2	NP_115548.1:p.(Pro552=)	NC_000007.13:g.6189483C>T	(Likely) benign	1 lab	2415965b58
12:83251125 TMTC2 C>T	12	83251125	83251125	C	T	TMTC2	c.420C>T	NM_152588.3	NP_689801.1:p.(Ala140=)	NC_000012.11:g.83251125C>T	(Likely) benign	1 lab	241665d434
1:169446545 SLC19A2 G>A	1	169446545	169446545	G	A	SLC19A2	c.655C>T	NM_006996.2	NP_008927.1:p.(His219Tyr)	NC_000001.10:g.169446545G>A	VUS	1 lab	2418249f7c
17:1631365 WDR81 G>A	17	1631365	1631365	G	A	WDR81	c.3112G>A	NM_001163809.1	NP_001157281.1:p.(Gly1038Arg)	NC_000017.10:g.1631365G>A	(Likely) benign	1 lab	241dbd0521
4:3076686 HTT C>A	4	3076686	3076686	C	A	HTT	c.140C>A	NM_002111.8	NP_002102.4:p.(Pro47Gln)	NC_000004.11:g.3076686C>A	(Likely) benign	1 lab	241e4da22e
11:65637482 EFEMP2 CGGA>C	11	65637482	65637492	CGGA	C	EFEMP2	c.608-38_608-36del	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65637490_65637492del	(Likely) benign	1 lab	241fae4395
12:49445563 KMT2D T>C	12	49445563	49445563	T	C	KMT2D	c.1903A>G	NM_003482.3	NP_003473.3:p.(Met635Val)	NC_000012.11:g.49445563T>C	(Likely) benign	1 lab	2422f66a61
5:138286898 SIL1 G>A	5	138286898	138286898	G	A	SIL1	c.991C>T	NM_001037633.1	NP_001032722.1:p.(Arg331Cys)	NC_000005.9:g.138286898G>A	VUS	1 lab	242365e312
1:57480896 DAB1 G>A	1	57480896	57480896	G	A	DAB1	c.1104C>T	NM_021080.4	NP_066566.3:p.(Pro368=)	NC_000001.10:g.57480896G>A	(Likely) benign	1 lab	2423828c79
7:47920346 PKD1L1 T>TC	7	47920346	47920347	T	TC	PKD1L1	c.3499_3500insG	NM_138295.4	NP_612152.1:p.(Tyr1167Ter)	NC_000007.13:g.47920346_47920347insC	(Likely) pathogenic	1 lab	24246dec88
13:39261958 FREM2 G>T	13	39261958	39261958	G	T	FREM2	c.477G>T	NM_207361.5	NP_997244.4:p.(Ala159=)	NC_000013.10:g.39261958G>T	(Likely) benign	1 lab	2425992604
2:234669078 UGT1A1 C>T	2	234669078	234669078	C	T	UGT1A1	c.145C>T	NM_000463.2	NP_000454.1:p.(Gln49Ter)	NC_000002.11:g.234669078C>T	(Likely) pathogenic	1 lab	2425b0ce95
20:62632557 PRPF6 C>T	20	62632557	62632557	C	T	PRPF6	c.1151C>T	NM_012469.3	NP_036601.2:p.(Thr384Met)	NC_000020.10:g.62632557C>T	(Likely) benign	1 lab	2425ffdef8
X:53615453 HUWE1 G>A	X	53615453	53615453	G	A	HUWE1	c.4503C>T	NM_031407.6	NP_113584.3:p.(Pro1501=)	NC_000023.10:g.53615453G>A	(Likely) benign	1 lab	242616c1be
2:50758555 NRXN1 C>T	2	50758555	50758555	C	T	NRXN1	c.2277G>A	NM_001135659.2	NP_001129131.1:p.(Leu759=)	NC_000002.11:g.50758555C>T	(Likely) benign	1 lab	2426f7b0b4
1:36933539 CSF3R C>T	1	36933539	36933539	C	T	CSF3R	c.1748G>A	NM_156039.3	NP_724781.1:p.(Arg583His)	NC_000001.10:g.36933539C>T	(Likely) benign	1 lab	24284c1f99
7:100160265 AGFG2 G>GGGC	7	100160265	100160280	G	GGGC	AGFG2	c.1060_1062dup	NM_006076.5	NP_006067.3:p.(Gly354dup)	NC_000007.13:g.100160278_100160280dup	VUS	1 lab	24298da8b7
15:49059673 CEP152 C>T	15	49059673	49059673	C	T	CEP152	c.2019-13G>A	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49059673C>T	(Likely) benign	1 lab	242a5a3364
X:153994581 DKC1 A>C	X	153994581	153994581	A	C	DKC1	c.354A>C	NM_001288747.1	NP_001275676.1:p.(Thr118=)	NC_000023.10:g.153994581A>C	(Likely) benign	1 lab	242af2ef84
12:120146129 CIT C>A	12	120146129	120146129	C	A	CIT	c.5072-6G>T	NM_001206999.1	NP_001193928.1:p.?	NC_000012.11:g.120146129C>A	(Likely) benign	1 lab	242b732a62
2:149225975 MBD5 G>T	2	149225975	149225975	G	T	MBD5	c.463G>T	NM_018328.4	NP_060798.2:p.(Gly155Ter)	NC_000002.11:g.149225975G>T	(Likely) pathogenic	1 lab	242d4bdd4d
5:58453156 PDE4D A>G	5	58453156	58453156	A	G	PDE4D	c.650T>C	NM_001364602.1	NP_001351531.1:p.(Leu217Pro)	NC_000005.9:g.58453156A>G	VUS	1 lab	242d99b4d9
2:170062657 LRP2 T>C	2	170062657	170062657	T	C	LRP2	c.7432A>G	NM_004525.3	NP_004516.2:p.(Arg2478Gly)	NC_000002.11:g.170062657T>C	VUS	1 lab	243018807b
X:153171676 AVPR2 G>A	X	153171676	153171676	G	A	AVPR2	c.716G>A	NM_001146151.2	NP_001139623.1:p.(Gly239Glu)	NC_000023.10:g.153171676G>A	(Likely) benign	1 lab	24305a5ee5
X:51488021 GSPT2 G>A	X	51488021	51488021	G	A	GSPT2	c.1299G>A	NM_018094.4	NP_060564.2:p.(Leu433=)	NC_000023.10:g.51488021G>A	(Likely) benign	1 lab	2431e6af9a
1:240371319 FMN2 A>T	1	240371319	240371319	A	T	FMN2	c.3207A>T	NM_020066.5	NP_064450.3:p.(Leu1069=)	NC_000001.10:g.240371319A>T	(Likely) benign	1 lab	2432f23e08
5:160763773 GABRB2 C>T	5	160763773	160763773	C	T	GABRB2	c.545G>A	NM_021911.2	NP_068711.1:p.(Gly182Glu)	NC_000005.9:g.160763773C>T	VUS	1 lab	24341467fa
2:43927253 PLEKHH2 C>A	2	43927253	43927253	C	A	PLEKHH2	c.1156C>A	NM_172069.4	NP_742066.2:p.(Leu386Met)	NC_000002.11:g.43927253C>A	VUS	1 lab	243715db01
14:75078619 LTBP2 G>A	14	75078619	75078619	G	A	LTBP2	c.29C>T	NM_000428.2	NP_000419.1:p.(Pro10Leu)	NC_000014.8:g.75078619G>A	VUS	1 lab	243ca8757a
X:70339712 MED12 G>A	X	70339712	70339712	G	A	MED12	c.381G>A	NM_005120.2	NP_005111.2:p.(Thr127=)	NC_000023.10:g.70339712G>A	(Likely) benign	1 lab	243d7c8eb3
X:99661978 PCDH19 G>A	X	99661978	99661978	G	A	PCDH19	c.1618C>T	NM_001184880.1	NP_001171809.1:p.(Leu540Phe)	NC_000023.10:g.99661978G>A	(Likely) benign	1 lab	243def36d5
5:178415987 GRM6 G>A	5	178415987	178415987	G	A	GRM6	c.1303C>T	NM_000843.4	NP_000834.2:p.(Pro435Ser)	NC_000005.9:g.178415987G>A	VUS	1 lab	243df7e7a6
5:1272403 TERT C>T	5	1272403	1272403	C	T	TERT	c.2287-8G>A	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1272403C>T	(Likely) benign	1 lab	243e02f89f
3:49690469 BSN C>A	3	49690469	49690469	C	A	BSN	c.3480C>A	NM_003458.3	NP_003449.2:p.(Ser1160=)	NC_000003.11:g.49690469C>A	(Likely) benign	1 lab	243e4990a2
2:227659846 IRS1 T>G	2	227659846	227659846	T	G	IRS1	c.3609A>C	NM_005544.2	NP_005535.1:p.(Pro1203=)	NC_000002.11:g.227659846T>G	(Likely) benign	1 lab	24401d8ee4
5:228370 SDHA G>T	5	228370	228370	G	T	SDHA	c.692G>T	NM_004168.3	NP_004159.2:p.(Cys231Phe)	NC_000005.9:g.228370G>T	VUS	1 lab	2440373f13
4:126329643 FAT4 G>A	4	126329643	126329643	G	A	FAT4	c.5614G>A	NM_001291303.1	NP_001278232.1:p.(Val1872Met)	NC_000004.11:g.126329643G>A	VUS	1 lab	24411ab231
3:71021817 FOXP1 C>G	3	71021817	71021817	C	G	FOXP1	c.1541G>C	NM_001349338.1	NP_001336267.1:p.(Arg514Pro)	NC_000003.11:g.71021817C>G	(Likely) pathogenic	1 lab	244175ac29
2:26689725 OTOF C>T	2	26689725	26689725	C	T	OTOF	c.4363-6G>A	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26689725C>T	(Likely) benign	1 lab	244188b27d
17:29685481 NF1 C>G	17	29685481	29685481	C	G	NF1	c.7908-17C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685481C>G	(Likely) pathogenic	1 lab	2441ed01ec
13:38225565 TRPC4 C>T	13	38225565	38225565	C	T	TRPC4	c.1916G>A	NM_003306.2	NP_003297.1:p.(Arg639Gln)	NC_000013.10:g.38225565C>T	VUS	1 lab	244214011f
5:67522752 PIK3R1 G>A	5	67522752	67522752	G	A	PIK3R1	c.249G>A	NM_181523.2	NP_852664.1:p.(Ser83=)	NC_000005.9:g.67522752G>A	(Likely) benign	1 lab	24428953a7
13:28610151 FLT3 C>A	13	28610151	28610151	C	A	FLT3	c.1339G>T	NM_004119.2	NP_004110.2:p.(Ala447Ser)	NC_000013.10:g.28610151C>A	(Likely) benign	1 lab	2443b2b507
X:154159178 F8 C>T	X	154159178	154159178	C	T	F8	c.2887G>A	NM_000132.3	NP_000123.1:p.(Asp963Asn)	NC_000023.10:g.154159178C>T	(Likely) benign	1 lab	2445a108f2
X:153069506 PDZD4 G>C	X	153069506	153069506	G	C	PDZD4	c.1324C>G	NM_001303513.1	NP_001290442.1:p.(Arg442Gly)	NC_000023.10:g.153069506G>C	(Likely) benign	1 lab	24469a6581
22:51117031 MISSING A>G	22	51117031	51117031	A	G	MISSING				NC_000022.10:g.51117031A>G	VUS	1 lab	2446f9d10f
19:5151356 KDM4B C>T	19	5151356	5151356	C	T	KDM4B	c.3125C>T	NM_015015.3	NP_055830.1:p.(Thr1042Met)	NC_000019.9:g.5151356C>T	VUS	1 lab	24472a8ea7
11:71800166 LRTOMT G>A	11	71800166	71800166	G	A	LRTOMT	c.37G>A	NM_001271471.2	NP_001258400.1:p.(Glu13Lys)	NC_000011.9:g.71800166G>A	VUS	1 lab	2449616821
16:716027 WDR90 C>T	16	716027	716027	C	T	WDR90	c.4512C>T	NM_145294.5	NP_660337.3:p.(Asp1504=)	NC_000016.9:g.716027C>T	(Likely) benign	1 lab	2449b0224b
10:73553076 CDH23 AC>A	10	73553076	73553078	AC	A	CDH23	c.6393del	NM_022124.6	NP_071407.4:p.(Ile2132SerfsTer11)	NC_000010.10:g.73553078del	(Likely) pathogenic	1 lab	2449e47c18
14:36008777 RALGAPA1 G>A	14	36008777	36008777	G	A	RALGAPA1	c.6367C>T	NM_001346247.1	NP_001333176.1:p.(Arg2123Cys)	NC_000014.8:g.36008777G>A	VUS	1 lab	244a1d626f
2:27666394 KRTCAP3 G>C	2	27666394	27666394	G	C	KRTCAP3	c.610G>C	NM_001168364.1	NP_001161836.1:p.(Gly204Arg)	NC_000002.11:g.27666394G>C	(Likely) benign	1 lab	244a854165
1:24122717 GALE C>T	1	24122717	24122717	C	T	GALE	c.912G>A	NM_000403.3	NP_000394.2:p.(Val304=)	NC_000001.10:g.24122717C>T	(Likely) benign	1 lab	244bcc82b8
1:63091022 DOCK7 G>A	1	63091022	63091022	G	A	DOCK7	c.1333C>T	NM_001367561.1	NP_001354490.1:p.(Arg445Ter)	NC_000001.10:g.63091022G>A	(Likely) pathogenic	1 lab	244bff794f
15:35084360 ACTC1 C>T	15	35084360	35084360	C	T	ACTC1	c.739G>A	NM_005159.4	NP_005150.1:p.(Gly247Ser)	NC_000015.9:g.35084360C>T	(Likely) pathogenic	1 lab	24515c8297
12:49374221 WNT1 G>A	12	49374221	49374221	G	A	WNT1	c.373G>A	NM_005430.4	NP_005421.1:p.(Ala125Thr)	NC_000012.11:g.49374221G>A	VUS	1 lab	40b84286cf
1:186157043 HMCN1 G>T	1	186157043	186157043	G	T	HMCN1	c.16443G>T	NM_031935.2	NP_114141.2:p.(Val5481=)	NC_000001.10:g.186157043G>T	(Likely) benign	1 lab	24515eec05
9:71831325 TJP2 C>T	9	71831325	71831325	C	T	TJP2	c.185C>T	NM_004817.4	NP_004808.2:p.(Thr62Met)	NC_000009.11:g.71831325C>T	(Likely) benign	1 lab	245184ca3a
12:109541363 UNG G>A	12	109541363	109541363	G	A	UNG	c.721G>A	NM_003362.3	NP_003353.1:p.(Val241Ile)	NC_000012.11:g.109541363G>A	VUS	1 lab	2451c85386
14:74969646 LTBP2 G>A	14	74969646	74969646	G	A	LTBP2	c.4889-9C>T	NM_000428.2	NP_000419.1:p.?	NC_000014.8:g.74969646G>A	(Likely) benign	1 lab	2451cd640b
5:55265525 IL6ST G>T	5	55265525	55265525	G	T	IL6ST	c.223C>A	NM_002184.4	NP_002175.2:p.(Pro75Thr)	NC_000005.9:g.55265525G>T	VUS	1 lab	2451e9c94d
5:135391462 TGFBI A>G	5	135391462	135391462	A	G	TGFBI	c.1504A>G	NM_000358.2	NP_000349.1:p.(Met502Val)	NC_000005.9:g.135391462A>G	(Likely) benign	1 lab	2453c4051d
18:43481023 EPG5 C>G	18	43481023	43481023	C	G	EPG5	c.4584G>C	NM_020964.3	NP_066015.2:p.(Leu1528Phe)	NC_000018.9:g.43481023C>G	VUS	1 lab	245461166b
1:27058026 ARID1A G>A	1	27058026	27058026	G	A	ARID1A	c.1734G>A	NM_006015.4	NP_006006.3:p.(Ala578=)	NC_000001.10:g.27058026G>A	(Likely) benign	1 lab	2454db0a77
6:152690673 SYNE1 A>G	6	152690673	152690673	A	G	SYNE1	c.9584T>C	NM_182961.3	NP_892006.3:p.(Met3195Thr)	NC_000006.11:g.152690673A>G	(Likely) benign	1 lab	24556bf513
12:64502736 SRGAP1 C>T	12	64502736	64502736	C	T	SRGAP1	c.1838C>T	NM_020762.3	NP_065813.1:p.(Ala613Val)	NC_000012.11:g.64502736C>T	VUS	1 lab	2455b13a8e
16:2138141 TSC2 G>A	16	2138141	2138141	G	A	TSC2	c.5160+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138141G>A	(Likely) pathogenic	1 lab	251ce4b32e
16:90001587 TUBB3 C>T	16	90001587	90001587	C	T	TUBB3	c.728C>T	NM_006086.4	NP_006077.2:p.(Pro243Leu)	NC_000016.9:g.90001587C>T	VUS	1 lab	245662fb3c
17:18054827 MYO15A G>A	17	18054827	18054827	G	A	MYO15A	c.7773G>A	NM_016239.3	NP_057323.3:p.(Arg2591=)	NC_000017.10:g.18054827G>A	(Likely) benign	1 lab	24591f5f42
2:27716958 FNDC4 G>GT	2	27716958	27716959	G	GT	FNDC4	c.292dup	NM_022823.3	NP_073734.1:p.(Thr98AsnfsTer13)	NC_000002.11:g.27716959dup	VUS	1 lab	24596de296
11:121458843 SORL1 C>T	11	121458843	121458843	C	T	SORL1	c.3929C>T	NM_003105.5	NP_003096.1:p.(Ala1310Val)	NC_000011.9:g.121458843C>T	VUS	1 lab	2459721bae
14:77769185 POMT2 C>T	14	77769185	77769185	C	T	POMT2	c.649G>A	NM_013382.7	NP_037514.2:p.(Ala217Thr)	NC_000014.8:g.77769185C>T	VUS	1 lab	415fbbf4c0
6:49412398 MMUT C>T	6	49412398	49412398	C	T	MMUT	c.1630G>A	NM_000255.3	NP_000246.2:p.(Gly544Arg)	NC_000006.11:g.49412398C>T	(Likely) benign	1 lab	2459e5efa8
14:91766387 CCDC88C C>T	14	91766387	91766387	C	T	CCDC88C	c.3663G>A	NM_001080414.3	NP_001073883.2:p.(Ala1221=)	NC_000014.8:g.91766387C>T	(Likely) benign	1 lab	245db2fd2a
2:61258816 PEX13 G>A	2	61258816	61258816	G	A	PEX13	c.355G>A	NM_002618.3	NP_002609.1:p.(Val119Ile)	NC_000002.11:g.61258816G>A	VUS	1 lab	245ed065c1
X:148631092 HSFX3 G>A	X	148631092	148631092	G	A	HSFX3	c.306C>T	NM_001323079.1	NP_001310008.1:p.(Asn102=)	NC_000023.10:g.148631092G>A	(Likely) benign	1 lab	245eec6061
11:62747278 SLC22A6 G>A	11	62747278	62747278	G	A	SLC22A6	c.1180C>T	NM_004790.4	NP_004781.2:p.(Arg394Cys)	NC_000011.9:g.62747278G>A	VUS	1 lab	2463c9174f
13:51503663 RNASEH2B A>G	13	51503663	51503663	A	G	RNASEH2B	c.189A>G	NM_024570.3	NP_078846.2:p.(Val63=)	NC_000013.10:g.51503663A>G	(Likely) benign	1 lab	2464ae0048
X:49846497 CLCN5 G>A	X	49846497	49846497	G	A	CLCN5	c.926G>A	NM_001127899.3	NP_001121371.1:p.(Arg309His)	NC_000023.10:g.49846497G>A	VUS	1 lab	2469510630
2:87016562 CD8A G>A	2	87016562	87016562	G	A	CD8A	c.515-6C>T	NM_001145873.1	NP_001139345.1:p.?	NC_000002.11:g.87016562G>A	(Likely) benign	1 lab	246a320bba
17:18023981 MYO15A G>A	17	18023981	18023981	G	A	MYO15A	c.1867G>A	NM_016239.3	NP_057323.3:p.(Gly623Ser)	NC_000017.10:g.18023981G>A	VUS	1 lab	246b1c216e
17:7752323 KDM6B CT>C	17	7752323	7752324	CT	C	KDM6B	c.2718del	NM_001348716.2	NP_001335645.1:p.(Ala907LeufsTer8)	NC_000017.10:g.7752324del	VUS	1 lab	246b8e127a
11:66466534 SPTBN2 C>T	11	66466534	66466534	C	T	SPTBN2	c.3796G>A	NM_006946.3	NP_008877.1:p.(Ala1266Thr)	NC_000011.9:g.66466534C>T	(Likely) benign	1 lab	246c5b6cbc
15:63954017 HERC1 T>C	15	63954017	63954017	T	C	HERC1	c.9105A>G	NM_003922.3	NP_003913.3:p.(Leu3035=)	NC_000015.9:g.63954017T>C	(Likely) benign	1 lab	246ebc0fa7
6:117250057 RFX6 A>G	6	117250057	117250057	A	G	RFX6	c.2534A>G	NM_173560.4	NP_775831.2:p.(Asp845Gly)	NC_000006.11:g.117250057A>G	VUS	1 lab	e6a5d638d9
21:46912616 COL18A1 G>C	21	46912616	46912616	G	C	COL18A1	c.3448G>C	NM_130444.3	NP_569711.2:p.(Ala1150Pro)	NC_000021.8:g.46912616G>C	VUS	1 lab	2470fcf323
X:118370578 PGRMC1 C>T	X	118370578	118370578	C	T	PGRMC1	c.252C>T	NM_006667.4	NP_006658.1:p.(Val84=)	NC_000023.10:g.118370578C>T	(Likely) benign	1 lab	2471433ddd
17:4910336 KIF1C C>T	17	4910336	4910336	C	T	KIF1C	c.1292C>T	NM_006612.5	NP_006603.2:p.(Thr431Met)	NC_000017.10:g.4910336C>T	(Likely) benign	1 lab	24716ec15e
17:40939329 WNK4 C>T	17	40939329	40939329	C	T	WNK4	c.1510C>T	NM_032387.4	NP_115763.2:p.(Gln504Ter)	NC_000017.10:g.40939329C>T	(Likely) pathogenic	1 lab	2471718119
4:68406764 CENPC G>A	4	68406764	68406764	G	A	CENPC	c.70C>T	NM_001812.4	NP_001803.2:p.(Arg24Cys)	NC_000004.11:g.68406764G>A	VUS	1 lab	2472b3a5bd
3:124356082 KALRN G>A	3	124356082	124356082	G	A	KALRN	c.5593G>A	NM_001024660.4	NP_001019831.2:p.(Ala1865Thr)	NC_000003.11:g.124356082G>A	(Likely) benign	1 lab	247364accc
X:39931596 BCOR G>A	X	39931596	39931596	G	A	BCOR	c.2997+6C>T	NM_001123385.1	NP_001116857.1:p.?	NC_000023.10:g.39931596G>A	(Likely) benign	1 lab	247430bcbf
6:152673420 SYNE1 A>G	6	152673420	152673420	A	G	SYNE1	c.11322T>C	NM_182961.3	NP_892006.3:p.(Ala3774=)	NC_000006.11:g.152673420A>G	(Likely) benign	1 lab	2474cd9a83
3:4715048 ITPR1 T>A	3	4715048	4715048	T	A	ITPR1	c.2388T>A	NM_001168272.1	NP_001161744.1:p.(Ile796=)	NC_000003.11:g.4715048T>A	(Likely) benign	1 lab	24753859e0
20:17474841 BFSP1 C>T	20	17474841	17474841	C	T	BFSP1	c.1876G>A	NM_001195.4	NP_001186.1:p.(Glu626Lys)	NC_000020.10:g.17474841C>T	VUS	1 lab	24768b6274
19:36224674 KMT2B G>A	19	36224674	36224674	G	A	KMT2B	c.7060G>A	NM_014727.2	NP_055542.1:p.(Glu2354Lys)	NC_000019.9:g.36224674G>A	(Likely) benign	1 lab	24778a58c9
6:24450058 GPLD1 C>T	6	24450058	24450058	C	T	GPLD1	c.1405G>A	NM_001503.3	NP_001494.2:p.(Val469Met)	NC_000006.11:g.24450058C>T	VUS	1 lab	2477b892d3
16:76389389 CNTNAP4 G>A	16	76389389	76389389	G	A	CNTNAP4	c.371G>A	NM_033401.5	NP_207837.2:p.(Arg124His)	NC_000016.9:g.76389389G>A	VUS	1 lab	2478c1ec85
11:64065644 KCNK4 G>A	11	64065644	64065644	G	A	KCNK4	c.724G>A	NM_033310.3	NP_201567.1:p.(Gly242Ser)	NC_000011.9:g.64065644G>A	VUS	1 lab	247944026d
X:100531472 TAF7L T>C	X	100531472	100531472	T	C	TAF7L	c.994A>G	NM_024885.3	NP_079161.3:p.(Asn332Asp)	NC_000023.10:g.100531472T>C	(Likely) benign	1 lab	24797d3d97
7:75611613 POR G>A	7	75611613	75611613	G	A	POR	c.803G>A	NM_000941.2	NP_000932.3:p.(Arg268Gln)	NC_000007.13:g.75611613G>A	VUS	1 lab	247bc618d5
10:99969643 R3HCC1L G>A	10	99969643	99969643	G	A	R3HCC1L	c.1772G>A	NM_001256619.1	NP_001243548.1:p.(Arg591His)	NC_000010.10:g.99969643G>A	(Likely) benign	1 lab	247c0f55a9
22:39627813 PDGFB C>T	22	39627813	39627813	C	T	PDGFB	c.270G>A	NM_002608.3	NP_002599.1:p.(Glu90=)	NC_000022.10:g.39627813C>T	(Likely) benign	1 lab	247dca970d
X:48935414 WDR45 G>T	X	48935414	48935414	G	T	WDR45	c.131-8C>A	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48935414G>T	VUS	1 lab	27f37f1edf
12:54675173 HNRNPA1 C>T	12	54675173	54675173	C	T	HNRNPA1	c.19C>T	NM_031157.4	NP_112420.1:p.(Pro7Ser)	NC_000012.11:g.54675173C>T	VUS	1 lab	e6a7370a7c
4:88996753 PKD2 A>G	4	88996753	88996753	A	G	PKD2	c.2814A>G	NM_000297.3	NP_000288.1:p.(Gln938=)	NC_000004.11:g.88996753A>G	(Likely) benign	1 lab	247ee71f89
1:3742368 CEP104 T>A	1	3742368	3742368	T	A	CEP104	c.2318A>T	NM_014704.3	NP_055519.1:p.(Tyr773Phe)	NC_000001.10:g.3742368T>A	VUS	1 lab	247f134593
14:102446275 DYNC1H1 A>G	14	102446275	102446275	A	G	DYNC1H1	c.738A>G	NM_001376.4	NP_001367.2:p.(Gln246=)	NC_000014.8:g.102446275A>G	(Likely) benign	1 lab	247fae27ee
16:71787737 AP1G1 G>A	16	71787737	71787737	G	A	AP1G1	c.1292C>T	NM_001030007.2	NP_001025178.1:p.(Thr431Met)	NC_000016.9:g.71787737G>A	VUS	1 lab	e6a94fb23e
16:88502786 ZNF469 G>T	16	88502786	88502786	G	T	ZNF469				NC_000016.9:g.88502786G>T	(Likely) benign	1 lab	2480bd7bef
16:2098752 TSC2 A>T	16	2098752	2098752	A	T	TSC2	c.136A>T	NM_000548.3	NP_000539.2:p.(Arg46Ter)	NC_000016.9:g.2098752A>T	(Likely) pathogenic	1 lab	2480fb0958
6:32797699 TAP2 G>A	6	32797699	32797699	G	A	TAP2	c.1795+8C>T	NM_001290043.1	NP_001276972.1:p.?	NC_000006.11:g.32797699G>A	(Likely) benign	1 lab	2485328534
3:47050908 NBEAL2 AG>A	3	47050908	47050914	AG	A	NBEAL2	c.*104del	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47050914del	(Likely) benign	1 lab	e6a9f89824
16:2103485 TSC2 C>T	16	2103485	2103485	C	T	TSC2	c.336+32C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2103485C>T	(Likely) benign	1 lab	24872d6aa0
9:139328548 INPP5E G>A	9	139328548	139328548	G	A	INPP5E	c.975C>T	NM_019892.5	NP_063945.2:p.(Ala325=)	NC_000009.11:g.139328548G>A	(Likely) benign	1 lab	2488412c2c
10:64973469 JMJD1C C>A	10	64973469	64973469	C	A	JMJD1C	c.2458G>T	NM_032776.3	NP_116165.1:p.(Ala820Ser)	NC_000010.10:g.64973469C>A	VUS	1 lab	e6aeb2cf85
7:86795803 DMTF1 G>A	7	86795803	86795803	G	A	DMTF1	c.114G>A	NM_021145.3	NP_066968.3:p.(Ala38=)	NC_000007.13:g.86795803G>A	(Likely) benign	1 lab	2488f32eb5
16:1260795 CACNA1H C>T	16	1260795	1260795	C	T	CACNA1H	c.4047C>T	NM_021098.2	NP_066921.2:p.(Ala1349=)	NC_000016.9:g.1260795C>T	(Likely) benign	1 lab	248a8e3a66
13:32937235 BRCA2 TCA>T	13	32937235	32937237	TCA	T	BRCA2	c.7977-80_7977-79del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937236_32937237del	(Likely) benign	1 lab	248c76d477
17:1554728 PRPF8 C>T	17	1554728	1554728	C	T	PRPF8	c.6630G>A	NM_006445.3	NP_006436.3:p.(Lys2210=)	NC_000017.10:g.1554728C>T	(Likely) benign	1 lab	248f7f1ffc
17:2577583 PAFAH1B1 G>C	17	2577583	2577583	G	C	PAFAH1B1	c.900+1G>C	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2577583G>C	(Likely) pathogenic	1 lab	249008facd
2:179453342 TTN C>T	2	179453342	179453342	C	T	TTN	c.63110G>A	NM_001267550.1	NP_001254479.1:p.(Arg21037His)	NC_000002.11:g.179453342C>T	VUS	1 lab	2492e1bd52
16:2121554 TSC2 G>A	16	2121554	2121554	G	A	TSC2	c.1883G>A	NM_000548.3	NP_000539.2:p.(Arg628His)	NC_000016.9:g.2121554G>A	VUS	1 lab	24942c82b9
16:3706687 DNASE1 C>T	16	3706687	3706687	C	T	DNASE1	c.369C>T	NM_005223.3	NP_005214.2:p.(Cys123=)	NC_000016.9:g.3706687C>T	VUS	1 lab	2494d2bf9f
16:66919298 PDP2 G>A	16	66919298	66919298	G	A	PDP2	c.1111G>A	NM_001329928.1	NP_001316857.1:p.(Glu371Lys)	NC_000016.9:g.66919298G>A	(Likely) benign	1 lab	2495057397
12:109949045 UBE3B CAG>C	12	109949045	109949047	CAG	C	UBE3B	c.1894_1895del	NM_130466.4	NP_569733.2:p.(Arg632GlyfsTer67)	NC_000012.11:g.109949046_109949047del	(Likely) pathogenic	1 lab	24959c304a
X:66766359 AR C>T	X	66766359	66766359	C	T	AR	c.1371C>T	NM_000044.4	NP_000035.2:p.(Gly457=)	NC_000023.10:g.66766359C>T	(Likely) benign	1 lab	249610049b
1:61554090 NFIA A>C	1	61554090	61554090	A	C	NFIA	c.297A>C	NM_005595.4	NP_005586.1:p.(Lys99Asn)	NC_000001.10:g.61554090A>C	VUS	1 lab	24967a26ee
12:15813630 EPS8 T>G	12	15813630	15813630	T	G	EPS8	c.855A>C	NM_004447.5	NP_004438.3:p.(Thr285=)	NC_000012.11:g.15813630T>G	(Likely) benign	1 lab	24981cb42d
17:78337406 RNF213 C>G	17	78337406	78337406	C	G	RNF213	c.11569-3C>G	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78337406C>G	VUS	1 lab	e6aed49831
3:36587688 STAC C>T	3	36587688	36587688	C	T	STAC	c.1116C>T	NM_003149.2	NP_003140.1:p.(Cys372=)	NC_000003.11:g.36587688C>T	(Likely) benign	1 lab	249b2e0993
5:150946029 FAT2 G>A	5	150946029	150946029	G	A	FAT2	c.2464C>T	NM_001447.2	NP_001438.1:p.(Pro822Ser)	NC_000005.9:g.150946029G>A	(Likely) benign	1 lab	249bdf8194
X:48435434 RBM3 G>A	X	48435434	48435434	G	A	RBM3	c.434G>A	NM_006743.5	NP_006734.1:p.(Arg145His)	NC_000023.10:g.48435434G>A	(Likely) benign	1 lab	249c3b7dec
22:51133417 MISSING C>T	22	51133417	51133417	C	T	MISSING				NC_000022.10:g.51133417C>T	(Likely) benign	1 lab	249c85f4f2
1:228466616 OBSCN C>T	1	228466616	228466616	C	T	OBSCN	c.8373C>T	NM_001271223.2	NP_001258152.2:p.(Asp2791=)	NC_000001.10:g.228466616C>T	(Likely) benign	1 lab	249dcb5330
X:129147630 BCORL1 G>A	X	129147630	129147630	G	A	BCORL1	c.882G>A	NM_001184772.2	NP_001171701.1:p.(Pro294=)	NC_000023.10:g.129147630G>A	(Likely) benign	1 lab	249dcb8d93
X:128723820 OCRL A>G	X	128723820	128723820	A	G	OCRL	c.2470-2A>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128723820A>G	(Likely) pathogenic	1 lab	249ef5c8c2
X:153592952 FLNA C>T	X	153592952	153592952	C	T	FLNA	c.1964G>A	NM_001110556.2	NP_001104026.1:p.(Arg655His)	NC_000023.10:g.153592952C>T	VUS	1 lab	249f7586a8
9:135785963 TSC1 TG>T	9	135785963	135785969	TG	T	TSC1	c.1257del	NM_000368.5	NP_000359.1:p.(Arg420GlyfsTer20)	NC_000009.11:g.135785969del	(Likely) pathogenic	1 lab	24a04e3114
11:118023367 SCN4B C>T	11	118023367	118023367	C	T	SCN4B	c.22G>A	NM_174934.3	NP_777594.1:p.(Gly8Ser)	NC_000011.9:g.118023367C>T	(Likely) benign	1 lab	24a0c5be97
17:27061166 NEK8 G>A	17	27061166	27061166	G	A	NEK8	c.213G>A	NM_178170.3	NP_835464.1:p.(Leu71=)	NC_000017.10:g.27061166G>A	(Likely) benign	1 lab	24a1e400f4
X:153691947 PLXNA3 G>A	X	153691947	153691947	G	A	PLXNA3	c.1461G>A	NM_017514.4	NP_059984.3:p.(Pro487=)	NC_000023.10:g.153691947G>A	(Likely) benign	1 lab	24a33a9958
9:133729499 ABL1 G>A	9	133729499	133729499	G	A	ABL1	c.185G>A	NM_007313.2	NP_009297.2:p.(Ser62Asn)	NC_000009.11:g.133729499G>A	(Likely) benign	1 lab	24a5762ff0
16:74808462 FA2H C>T	16	74808462	74808462	C	T	FA2H	c.192G>A	NM_024306.4	NP_077282.3:p.(Gly64=)	NC_000016.9:g.74808462C>T	(Likely) benign	1 lab	24a64ab60f
19:36583692 WDR62 A>G	19	36583692	36583692	A	G	WDR62	c.2312A>G	NM_001083961.1	NP_001077430.1:p.(Lys771Arg)	NC_000019.9:g.36583692A>G	(Likely) benign	1 lab	24abdab055
7:4827294 AP5Z1 C>T	7	4827294	4827294	C	T	AP5Z1	c.1341C>T	NM_014855.3	NP_055670.1:p.(Thr447=)	NC_000007.13:g.4827294C>T	(Likely) benign	1 lab	24adefa842
21:46875744 COL18A1 G>A	21	46875744	46875744	G	A	COL18A1	c.300G>A	NM_130444.3	NP_569711.2:p.(Pro100=)	NC_000021.8:g.46875744G>A	(Likely) benign	1 lab	24ae92740b
22:39631813 PDGFB G>GAC	22	39631813	39631815	G	GAC	PDGFB	c.129_130insGT	NM_002608.3	NP_002599.1:p.(Leu44ValfsTer20)	NC_000022.10:g.39631814_39631815insCA	(Likely) pathogenic	1 lab	24aefe40ba
2:44200933 LRPPRC C>A	2	44200933	44200933	C	A	LRPPRC	c.1261+1G>T	NM_133259.3	NP_573566.2:p.?	NC_000002.11:g.44200933C>A	(Likely) pathogenic	1 lab	24af2f90fa
4:106164922 TET2 G>A	4	106164922	106164922	G	A	TET2	c.3790G>A	NM_001127208.2	NP_001120680.1:p.(Ala1264Thr)	NC_000004.11:g.106164922G>A	VUS	1 lab	24af6b6360
X:153409788 OPN1LW G>C	X	153409788	153409788	G	C	OPN1LW	c.31G>C	NM_020061.5	NP_064445.2:p.(Ala11Pro)	NC_000023.10:g.153409788G>C	(Likely) benign	1 lab	24b0ede300
12:52680144 KRT81 G>A	12	52680144	52680144	G	A	KRT81	c.1413C>T	NM_002281.3	NP_002272.2:p.(Cys471=)	NC_000012.11:g.52680144G>A	(Likely) benign	1 lab	24b125caef
7:128845072 SMO GTTCA>G	7	128845072	128845076	GTTCA	G	SMO	c.567_570del	NM_005631.5	NP_005622.1:p.(Ser189ArgfsTer112)	NC_000007.13:g.128845073_128845076del	(Likely) pathogenic	1 lab	24b189dbc9
19:3589896 GIPC3 G>A	19	3589896	3589896	G	A	GIPC3	c.773G>A	NM_133261.2	NP_573568.1:p.(Arg258Gln)	NC_000019.9:g.3589896G>A	VUS	1 lab	24b37bb047
3:124356074 KALRN C>G	3	124356074	124356074	C	G	KALRN	c.5585C>G	NM_001024660.4	NP_001019831.2:p.(Ala1862Gly)	NC_000003.11:g.124356074C>G	(Likely) benign	1 lab	24b3dda34d
8:41552814 ANK1 T>G	8	41552814	41552814	T	G	ANK1	c.3119A>C	NM_001142446.1	NP_001135918.1:p.(His1040Pro)	NC_000008.10:g.41552814T>G	(Likely) benign	1 lab	24b5471a5d
3:38141871 DLEC1 A>C	3	38141871	38141871	A	C	DLEC1	c.2819A>C	NM_001321153.1	NP_001308082.1:p.(His940Pro)	NC_000003.11:g.38141871A>C	(Likely) benign	1 lab	24b576037d
2:69329990 ANTXR1 C>T	2	69329990	69329990	C	T	ANTXR1	c.720C>T	NM_032208.2	NP_115584.1:p.(Val240=)	NC_000002.11:g.69329990C>T	(Likely) benign	1 lab	24b61d01b6
7:142460764 PRSS1 G>A	7	142460764	142460764	G	A	PRSS1	c.637G>A	NM_002769.4	NP_002760.1:p.(Val213Ile)	NC_000007.13:g.142460764G>A	(Likely) benign	1 lab	24b9937375
3:10188206 VHL T>C	3	10188206	10188206	T	C	VHL	c.349T>C	NM_000551.3	NP_000542.1:p.(Trp117Arg)	NC_000003.11:g.10188206T>C	(Likely) pathogenic	1 lab	24ba3b2b1e
2:25967169 ASXL2 T>TGCGGCG	2	25967169	25967177	T	TGCGGCG	ASXL2	c.2031_2036dup	NM_018263.5	NP_060733.4:p.(Ala683_Ala684dup)	NC_000002.11:g.25967172_25967177dup	VUS	1 lab	24ba6300ee
1:214816029 CENPF T>A	1	214816029	214816029	T	A	CENPF	c.4348T>A	NM_016343.3	NP_057427.3:p.(Ser1450Thr)	NC_000001.10:g.214816029T>A	VUS	1 lab	24bc3d47af
16:89351456 ANKRD11 G>A	16	89351456	89351456	G	A	ANKRD11	c.1494C>T	NM_001256182.1	NP_001243111.1:p.(Ser498=)	NC_000016.9:g.89351456G>A	(Likely) benign	1 lab	24c05eb3a0
8:103250875 RRM2B C>T	8	103250875	103250875	C	T	RRM2B	c.176G>A	NM_001172477.1	NP_001165948.1:p.(Arg59Gln)	NC_000008.10:g.103250875C>T	VUS	1 lab	24c231ad8b
2:29446184 ALK C>G	2	29446184	29446184	C	G	ALK				NC_000002.11:g.29446184C>G	(Likely) benign	1 lab	24c3802bc6
9:39149884 CNTNAP3 G>T	9	39149884	39149884	G	T	CNTNAP3	c.1568C>A	NM_033655.3	NP_387504.2:p.(Ala523Glu)	NC_000009.11:g.39149884G>T	VUS	1 lab	24c38e5f75
1:205041639 CNTN2 C>T	1	205041639	205041639	C	T	CNTN2	c.2760C>T	NM_005076.4	NP_005067.1:p.(Ser920=)	NC_000001.10:g.205041639C>T	(Likely) benign	1 lab	24c5c60f83
17:29546086 NF1 C>CA	17	29546086	29546088	C	CA	NF1	c.1593dup	NM_000267.3	NP_000258.1:p.(Leu532ThrfsTer26)	NC_000017.10:g.29546088dup	(Likely) pathogenic	1 lab	24c66432fc
19:39759479 IFNL2 A>G	19	39759479	39759479	A	G	IFNL2	c.173A>G	NM_172138.1	NP_742150.1:p.(Lys58Arg)	NC_000019.9:g.39759479A>G	(Likely) benign	1 lab	24c813a717
21:34925713 SON G>A	21	34925713	34925713	G	A	SON	c.4176G>A	NM_138927.2	NP_620305.2:p.(Pro1392=)	NC_000021.8:g.34925713G>A	(Likely) benign	1 lab	24c9bc04f2
X:53421817 SMC1A G>C	X	53421817	53421817	G	C	SMC1A	c.2797-9C>G	NM_001281463.1	NP_001268392.1:p.?	NC_000023.10:g.53421817G>C	VUS	1 lab	24caa8114e
17:40354392 STAT5B A>G	17	40354392	40354392	A	G	STAT5B	c.2203T>C	NM_012448.3	NP_036580.2:p.(Cys735Arg)	NC_000017.10:g.40354392A>G	(Likely) benign	1 lab	24cab48f04
19:42795515 CIC C>T	19	42795515	42795515	C	T	CIC	c.5322C>T	NM_001304815.1	NP_001291744.1:p.(Thr1774=)	NC_000019.9:g.42795515C>T	(Likely) benign	1 lab	24cc010051
18:10759814 PIEZO2 G>A	18	10759814	10759814	G	A	PIEZO2	c.3469C>T	NM_022068.3	NP_071351.2:p.(Arg1157Cys)	NC_000018.9:g.10759814G>A	VUS	1 lab	24cc025355
2:207017232 NDUFS1 G>A	2	207017232	207017232	G	A	NDUFS1	c.64C>T	NM_005006.6	NP_004997.4:p.(Arg22Ter)	NC_000002.11:g.207017232G>A	(Likely) pathogenic	1 lab	24ce26a87e
12:12356329 LRP6 A>G	12	12356329	12356329	A	G	LRP6	c.455T>C	NM_002336.3	NP_002327.2:p.(Met152Thr)	NC_000012.11:g.12356329A>G	VUS	1 lab	e6b116c12e
5:167944958 RARS1 T>A	5	167944958	167944958	T	A	RARS1	c.1764T>A	NM_002887.3	NP_002878.2:p.(Ile588=)	NC_000005.9:g.167944958T>A	(Likely) benign	1 lab	24d12c1db9
13:111082319 COL4A2 A>T	13	111082319	111082319	A	T	COL4A2	c.549+16A>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111082319A>T	(Likely) benign	1 lab	24d217bc99
16:30975593 SETD1A A>G	16	30975593	30975593	A	G	SETD1A	c.818A>G	NM_014712.3	NP_055527.1:p.(Tyr273Cys)	NC_000016.9:g.30975593A>G	VUS	1 lab	e6b252ba1f
6:88255413 RARS2 A>G	6	88255413	88255413	A	G	RARS2	c.456T>C	NM_020320.4	NP_064716.2:p.(Asn152=)	NC_000006.11:g.88255413A>G	(Likely) benign	1 lab	24d22c16f4
13:31897891 B3GLCT G>A	13	31897891	31897891	G	A	B3GLCT	c.1188G>A	NM_194318.3	NP_919299.3:p.(Met396Ile)	NC_000013.10:g.31897891G>A	VUS	1 lab	24d34e291a
2:238671543 LRRFIP1 C>T	2	238671543	238671543	C	T	LRRFIP1	c.1187C>T	NM_001137552.1	NP_001131024.1:p.(Ala396Val)	NC_000002.11:g.238671543C>T	(Likely) benign	1 lab	24d4075693
2:47300908 TTC7A G>T	2	47300908	47300908	G	T	TTC7A	c.2495G>T	NM_001288951.1	NP_001275880.1:p.(Arg832Met)	NC_000002.11:g.47300908G>T	(Likely) benign	1 lab	24d5057b79
1:228560203 OBSCN G>C	1	228560203	228560203	G	C	OBSCN	c.24595G>C	NM_001271223.2	NP_001258152.2:p.(Ala8199Pro)	NC_000001.10:g.228560203G>C	VUS	1 lab	24d5b0a6a7
7:94038720 COL1A2 C>G	7	94038720	94038720	C	G	COL1A2	c.879C>G	NM_000089.3	NP_000080.2:p.(Pro293=)	NC_000007.13:g.94038720C>G	VUS	1 lab	24d72b70ff
16:27789900 KATNIP C>T	16	27789900	27789900	C	T	KATNIP	c.4807C>T	NM_015202.3	NP_056017.3:p.(Arg1603Cys)	NC_000016.9:g.27789900C>T	VUS	1 lab	24da199c3b
2:179602841 TTN C>T	2	179602841	179602841	C	T	TTN	c.14339G>A	NM_001267550.1	NP_001254479.1:p.(Ser4780Asn)	NC_000002.11:g.179602841C>T	VUS	1 lab	24da57b8f0
2:47635549 MSH2 ATC>A	2	47635549	47635552	ATC	A	MSH2	c.223_224del	NM_000251.3	NP_000242.1:p.(Leu75AlafsTer6)	NC_000002.11:g.47635551_47635552del	(Likely) pathogenic	1 lab	24da8444f3
5:167946129 RARS1 A>G	5	167946129	167946129	A	G	RARS1	c.1917A>G	NM_002887.3	NP_002878.2:p.(Glu639=)	NC_000005.9:g.167946129A>G	(Likely) benign	1 lab	24dbaeb2c9
4:109971313 COL25A1 C>T	4	109971313	109971313	C	T	COL25A1	c.390G>A	NM_198721.3	NP_942014.1:p.(Lys130=)	NC_000004.11:g.109971313C>T	(Likely) benign	1 lab	24dbbf9dd7
18:48575209 SMAD4 C>T	18	48575209	48575209	C	T	SMAD4	c.403C>T	NM_005359.5	NP_005350.1:p.(Arg135Ter)	NC_000018.9:g.48575209C>T	(Likely) pathogenic	1 lab	24de4c3ca5
6:7583846 DSP T>C	6	7583846	7583846	T	C	DSP	c.6351T>C	NM_004415.2	NP_004406.2:p.(Asp2117=)	NC_000006.11:g.7583846T>C	(Likely) benign	1 lab	24dfad0640
16:2112587 TSC2 GGA>G	16	2112587	2112593	GGA	G	TSC2	c.1352_1353del	NM_000548.5	NP_000539.2:p.(Arg451IlefsTer30)	NC_000016.9:g.2112592_2112593del	(Likely) pathogenic	1 lab	24e01f8049
1:246887882 SCCPDH A>G	1	246887882	246887882	A	G	SCCPDH	c.158A>G	NM_016002.3	NP_057086.2:p.(Gln53Arg)	NC_000001.10:g.246887882A>G	VUS	1 lab	24e08cb925
2:74758706 HTRA2 G>A	2	74758706	74758706	G	A	HTRA2	c.952G>A	NM_001321727.1	NP_001308656.1:p.(Gly318Arg)	NC_000002.11:g.74758706G>A	(Likely) benign	1 lab	24e0d53618
11:2435976 TRPM5 C>T	11	2435976	2435976	C	T	TRPM5	c.1713G>A	NM_014555.3	NP_055370.1:p.(Thr571=)	NC_000011.9:g.2435976C>T	(Likely) benign	1 lab	24e1455c9f
19:17940842 JAK3 G>A	19	17940842	17940842	G	A	JAK3	c.3207+75C>T	NM_000215.4	NP_000206.2:p.?	NC_000019.9:g.17940842G>A	(Likely) benign	1 lab	e6b568a45d
6:31962099 C4A C>T	6	31962099	31962099	C	T	C4A	c.2530C>T	NM_007293.2	NP_009224.2:p.(Arg844Cys)	NC_000006.11:g.31962099C>T	VUS	1 lab	24e463daa2
21:38858886 DYRK1A A>T	21	38858886	38858886	A	T	DYRK1A	c.607A>T	NM_130436.2	NP_569120.1:p.(Lys203Ter)	NC_000021.8:g.38858886A>T	(Likely) pathogenic	1 lab	e6bb507218
13:113212622 TUBGCP3 G>T	13	113212622	113212622	G	T	TUBGCP3	c.406C>A	NM_001286277.1	NP_001273206.1:p.(Arg136=)	NC_000013.10:g.113212622G>T	(Likely) benign	1 lab	24ea2f48ac
16:85688408 GSE1 G>A	16	85688408	85688408	G	A	GSE1	c.608G>A	NM_014615.4	NP_055430.1:p.(Arg203Gln)	NC_000016.9:g.85688408G>A	VUS	1 lab	24ea7830cd
5:94842652 SKIC3 G>A	5	94842652	94842652	G	A	SKIC3	c.3078C>T	NM_014639.3	NP_055454.1:p.(Tyr1026=)	NC_000005.9:g.94842652G>A	(Likely) benign	1 lab	24eb190069
6:99283580 POU3F2 C>G	6	99283580	99283580	C	G	POU3F2	c.831C>G	NM_005604.4	NP_005595.2:p.(Phe277Leu)	NC_000006.11:g.99283580C>G	VUS	1 lab	e6bd600149
22:42606642 TCF20 G>A	22	42606642	42606642	G	A	TCF20	c.4670C>T	NM_005650.3	NP_005641.1:p.(Pro1557Leu)	NC_000022.10:g.42606642G>A	VUS	1 lab	24f0628ad4
4:517406 PIGG A>C	4	517406	517406	A	C	PIGG	c.1773A>C	NM_001127178.2	NP_001120650.1:p.(Gln591His)	NC_000004.11:g.517406A>C	(Likely) benign	1 lab	24f076237c
3:187416713 RTP2 G>T	3	187416713	187416713	G	T	RTP2	c.251C>A	NM_001004312.2	NP_001004312.2:p.(Ala84Glu)	NC_000003.11:g.187416713G>T	(Likely) benign	1 lab	24f0c5bf09
5:90052944 ADGRV1 C>G	5	90052944	90052944	C	G	ADGRV1	c.11906C>G	NM_032119.4	NP_115495.3:p.(Pro3969Arg)	NC_000005.9:g.90052944C>G	VUS	1 lab	24f0d57a26
11:61725763 BEST1 G>A	11	61725763	61725763	G	A	BEST1	c.680G>A	NM_001139443.1	NP_001132915.1:p.(Trp227Ter)	NC_000011.9:g.61725763G>A	(Likely) pathogenic	1 lab	24f108ae13
1:33359388 HPCA C>T	1	33359388	33359388	C	T	HPCA	c.507C>T	NM_002143.2	NP_002134.2:p.(Phe169=)	NC_000001.10:g.33359388C>T	(Likely) benign	1 lab	24f14431d5
8:145004672 PLEC G>A	8	145004672	145004672	G	A	PLEC	c.2748C>T	NM_201380.3	NP_958782.1:p.(Gly916=)	NC_000008.10:g.145004672G>A	(Likely) benign	1 lab	24f2f48869
19:45207453 CEACAM16 G>T	19	45207453	45207453	G	T	CEACAM16	c.548G>T	NM_001039213.4	NP_001034302.2:p.(Gly183Val)	NC_000019.9:g.45207453G>T	VUS	1 lab	24f318dcba
X:55247046 PAGE5 G>A	X	55247046	55247046	G	A	PAGE5	c.14G>A	NM_130467.5	NP_569734.2:p.(Trp5Ter)	NC_000023.10:g.55247046G>A	VUS	1 lab	24f37368d9
15:51289747 AP4E1 A>G	15	51289747	51289747	A	G	AP4E1	c.2346A>G	NM_001252127.1	NP_001239056.1:p.(Ser782=)	NC_000015.9:g.51289747A>G	(Likely) benign	1 lab	24f51b7f6c
3:48627888 COL7A1 TG>T	3	48627888	48627889	TG	T	COL7A1	c.1906+3del	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48627889del	VUS	1 lab	24f607ce81
X:47308766 ZNF41 C>T	X	47308766	47308766	C	T	ZNF41	c.403G>A	NM_153380.3	NP_700359.1:p.(Glu135Lys)	NC_000023.10:g.47308766C>T	VUS	1 lab	e6be7e6c4f
2:98779343 VWA3B G>A	2	98779343	98779343	G	A	VWA3B	c.1018G>A	NM_144992.4	NP_659429.4:p.(Val340Ile)	NC_000002.11:g.98779343G>A	(Likely) benign	1 lab	24f92b8d12
X:48652352 GATA1 C>T	X	48652352	48652352	C	T	GATA1	c.1023C>T	NM_002049.3	NP_002040.1:p.(Ser341=)	NC_000023.10:g.48652352C>T	(Likely) benign	1 lab	24fc4e67c0
7:82785646 PCLO C>T	7	82785646	82785646	C	T	PCLO	c.311G>A	NM_033026.5	NP_149015.2:p.(Arg104His)	NC_000007.13:g.82785646C>T	(Likely) benign	1 lab	24fd94163b
X:109937495 CHRDL1 C>T	X	109937495	109937495	C	T	CHRDL1	c.674G>A	NM_001143981.1	NP_001137453.1:p.(Arg225His)	NC_000023.10:g.109937495C>T	(Likely) benign	1 lab	24ff8cc134
10:105793059 COL17A1 C>T	10	105793059	105793059	C	T	COL17A1	c.4231G>A	NM_000494.4	NP_000485.3:p.(Gly1411Ser)	NC_000010.10:g.105793059C>T	VUS	1 lab	250206c4d5
15:100672212 ADAMTS17 G>A	15	100672212	100672212	G	A	ADAMTS17	c.1721C>T	NM_139057.3	NP_620688.2:p.(Pro574Leu)	NC_000015.9:g.100672212G>A	VUS	1 lab	2502a57547
16:9857866 GRIN2A A>C	16	9857866	9857866	A	C	GRIN2A	c.3535T>G	NM_001134407.3	NP_001127879.1:p.(Ser1179Ala)	NC_000016.9:g.9857866A>C	(Likely) benign	1 lab	2502b5d145
1:235933463 LYST C>T	1	235933463	235933463	C	T	LYST	c.5919G>A	NM_001301365.1	NP_001288294.1:p.(Leu1973=)	NC_000001.10:g.235933463C>T	(Likely) benign	1 lab	2503048934
12:48386684 COL2A1 G>A	12	48386684	48386684	G	A	COL2A1	c.1000C>T	NM_001844.4	NP_001835.3:p.(Arg334Trp)	NC_000012.11:g.48386684G>A	VUS	1 lab	25030c6c82
12:14798223 GUCY2C G>C	12	14798223	14798223	G	C	GUCY2C	c.1737C>G	NM_004963.3	NP_004954.2:p.(Tyr579Ter)	NC_000012.11:g.14798223G>C	(Likely) pathogenic	1 lab	250396fb06
X:153592746 FLNA G>A	X	153592746	153592746	G	A	FLNA	c.2023-6C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592746G>A	(Likely) benign	1 lab	2503ca3495
12:110017717 MVK C>G	12	110017717	110017717	C	G	MVK	c.337C>G	NM_000431.2	NP_000422.1:p.(Leu113Val)	NC_000012.11:g.110017717C>G	VUS	1 lab	250636b9ed
X:154215546 F8 G>A	X	154215546	154215546	G	A	F8	c.636C>T	NM_000132.3	NP_000123.1:p.(His212=)	NC_000023.10:g.154215546G>A	(Likely) benign	1 lab	2506e8c1d1
22:40662255 TNRC6B A>G	22	40662255	40662255	A	G	TNRC6B	c.2021A>G	NM_001162501.2	NP_001155973.1:p.(Asn674Ser)	NC_000022.10:g.40662255A>G	VUS	1 lab	250729c0a5
17:6329946 AIPL1 C>T	17	6329946	6329946	C	T	AIPL1	c.773G>A	NM_014336.4	NP_055151.3:p.(Arg258Gln)	NC_000017.10:g.6329946C>T	(Likely) benign	1 lab	25093b6e4e
15:28422571 HERC2 C>T	15	28422571	28422571	C	T	HERC2	c.9248G>A	NM_004667.5	NP_004658.3:p.(Ser3083Asn)	NC_000015.9:g.28422571C>T	VUS	1 lab	2509dcd360
16:16230466 ABCC1 A>G	16	16230466	16230466	A	G	ABCC1	c.4257A>G	NM_004996.3	NP_004987.2:p.(Leu1419=)	NC_000016.9:g.16230466A>G	(Likely) benign	1 lab	250a615541
8:10467006 RP1L1 A>C	8	10467006	10467006	A	C	RP1L1	c.4602T>G	NM_178857.5	NP_849188.4:p.(Leu1534=)	NC_000008.10:g.10467006A>C	(Likely) benign	1 lab	250a902f8b
X:84563194 POF1B C>A	X	84563194	84563194	C	A	POF1B	c.986G>T	NM_024921.3	NP_079197.3:p.(Arg329Leu)	NC_000023.10:g.84563194C>A	VUS	1 lab	250b08b1c7
X:3235642 MXRA5 G>A	X	3235642	3235642	G	A	MXRA5	c.6080C>T	NM_015419.4	NP_056234.2:p.(Ala2027Val)	NC_000023.10:g.3235642G>A	VUS	1 lab	e6c259fe18
17:73282721 SLC25A19 C>T	17	73282721	73282721	C	T	SLC25A19	c.125G>A	NM_001126121.2	NP_001119593.1:p.(Arg42His)	NC_000017.10:g.73282721C>T	VUS	1 lab	250bc1e777
15:62169232 VPS13C T>C	15	62169232	62169232	T	C	VPS13C	c.10164A>G	NM_001018088.2	NP_001018098.1:p.(Arg3388=)	NC_000015.9:g.62169232T>C	(Likely) benign	1 lab	250c58df97
X:151336921 GABRA3 C>T	X	151336921	151336921	C	T	GABRA3	c.1258G>A	NM_000808.3	NP_000799.1:p.(Ala420Thr)	NC_000023.10:g.151336921C>T	VUS	1 lab	250dcc53e6
18:19098003 GREB1L G>C	18	19098003	19098003	G	C	GREB1L	c.5280G>C	NM_001142966.2	NP_001136438.1:p.(Glu1760Asp)	NC_000018.9:g.19098003G>C	(Likely) benign	1 lab	25101dad3c
3:184040510 EIF4G1 A>G	3	184040510	184040510	A	G	EIF4G1	c.1787A>G	NM_182917.4	NP_886553.3:p.(Tyr596Cys)	NC_000003.11:g.184040510A>G	VUS	1 lab	2511411d91
11:6655547 DCHS1 G>A	11	6655547	6655547	G	A	DCHS1				NC_000011.9:g.6655547G>A	(Likely) benign	1 lab	25122e31d1
9:71652384 FXN AAATAAT>A	9	71652384	71652398	AAATAAT	A	FXN	c.165+1530_165+1535del	NM_000144.5	NP_000135.2:p.?	NC_000009.11:g.71652393_71652398del	(Likely) benign	1 lab	2513ec26b8
7:116166684 CAV1 A>G	7	116166684	116166684	A	G	CAV1	c.43A>G	NM_001172895.1	NP_001166366.1:p.(Thr15Ala)	NC_000007.13:g.116166684A>G	VUS	1 lab	2514d674d8
1:222803501 MIA3 G>A	1	222803501	222803501	G	A	MIA3	c.2939G>A	NM_198551.4	NP_940953.2:p.(Arg980His)	NC_000001.10:g.222803501G>A	VUS	1 lab	e6c472bcf8
11:71804714 LRTOMT C>T	11	71804714	71804714	C	T	LRTOMT	c.255C>T	NM_001271471.2	NP_001258400.1:p.(Asp85=)	NC_000011.9:g.71804714C>T	(Likely) benign	1 lab	25170f1eff
16:68710353 CDH3 C>T	16	68710353	68710353	C	T	CDH3	c.226C>T	NM_001317195.1	NP_001304124.1:p.(Arg76Trp)	NC_000016.9:g.68710353C>T	VUS	1 lab	2519a706b2
X:63488698 MTMR8 A>C	X	63488698	63488698	A	C	MTMR8	c.1834T>G	NM_017677.3	NP_060147.2:p.(Cys612Gly)	NC_000023.10:g.63488698A>C	(Likely) benign	1 lab	251a38249c
22:19492985 CDC45 C>T	22	19492985	19492985	C	T	CDC45	c.901C>T	NM_001178010.2	NP_001171481.1:p.(Arg301Trp)	NC_000022.10:g.19492985C>T	VUS	1 lab	251b15a2ec
5:39341345 C9 C>G	5	39341345	39341345	C	G	C9	c.379G>C	NM_001737.3	NP_001728.1:p.(Asp127His)	NC_000005.9:g.39341345C>G	VUS	1 lab	251ba5cf07
2:26700580 OTOF G>A	2	26700580	26700580	G	A	OTOF	c.2252C>T	NM_194248.2	NP_919224.1:p.(Thr751Met)	NC_000002.11:g.26700580G>A	VUS	1 lab	251bbbca36
22:36681726 MYH9 C>T	22	36681726	36681726	C	T	MYH9	c.5252G>A	NM_002473.5	NP_002464.1:p.(Arg1751Gln)	NC_000022.10:g.36681726C>T	VUS	1 lab	251be3d3bf
3:3170877 TRNT1 G>C	3	3170877	3170877	G	C	TRNT1	c.148+5G>C	NM_001302946.2	NP_001289875.2:p.?	NC_000003.11:g.3170877G>C	VUS	1 lab	251c345ca7
7:103130249 RELN A>C	7	103130249	103130249	A	C	RELN	c.9703T>G	NM_005045.3	NP_005036.2:p.(Cys3235Gly)	NC_000007.13:g.103130249A>C	VUS	1 lab	251f90f3ac
16:50821718 CYLD TTC>T	16	50821718	50821721	TTC	T	CYLD	c.2065_2066del	NM_001378743.1	NP_001365672.1:p.(Leu689ValfsTer34)	NC_000016.9:g.50821720_50821721del	(Likely) pathogenic	1 lab	25205e9a1e
20:44003909 TP53TG5 C>T	20	44003909	44003909	C	T	TP53TG5	c.538G>A	NM_014477.3	NP_055292.1:p.(Glu180Lys)	NC_000020.10:g.44003909C>T	(Likely) benign	1 lab	2521408725
19:39057590 RYR1 C>G	19	39057590	39057590	C	G	RYR1	c.13477C>G	NM_000540.2	NP_000531.2:p.(Pro4493Ala)	NC_000019.9:g.39057590C>G	(Likely) benign	1 lab	2523909349
15:51791525 DMXL2 G>A	15	51791525	51791525	G	A	DMXL2	c.3896C>T	NM_001174116.1	NP_001167587.1:p.(Ser1299Leu)	NC_000015.9:g.51791525G>A	(Likely) benign	1 lab	252417aa94
21:47766046 PCNT G>A	21	47766046	47766046	G	A	PCNT	c.644G>A	NM_006031.5	NP_006022.3:p.(Cys215Tyr)	NC_000021.8:g.47766046G>A	(Likely) benign	1 lab	2524d386da
X:147743991 AFF2 C>T	X	147743991	147743991	C	T	AFF2	c.743C>T	NM_002025.3	NP_002016.2:p.(Ala248Val)	NC_000023.10:g.147743991C>T	(Likely) benign	1 lab	2524d53f42
5:54683851 MTREX G>A	5	54683851	54683851	G	A	MTREX	c.2102G>A	NM_015360.5	NP_056175.3:p.(Arg701His)	NC_000005.9:g.54683851G>A	(Likely) benign	1 lab	25261b412a
19:39087743 MAP4K1 G>A	19	39087743	39087743	G	A	MAP4K1	c.1872C>T	NM_007181.5	NP_009112.1:p.(Cys624=)	NC_000019.9:g.39087743G>A	(Likely) benign	1 lab	25269adceb
1:20964512 PINK1 G>A	1	20964512	20964512	G	A	PINK1	c.565G>A	NM_032409.2	NP_115785.1:p.(Gly189Arg)	NC_000001.10:g.20964512G>A	(Likely) benign	1 lab	252863897a
16:2129276 TSC2 G>C	16	2129276	2129276	G	C	TSC2	c.3132-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129276G>C	(Likely) pathogenic	1 lab	25349b9a80
15:63363401 TPM1 C>CATTTT	15	63363401	63363402	C	CATTTT	TPM1	c.*1259_*1260insATTTT	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63363401_63363402insATTTT	(Likely) benign	1 lab	e6c4988632
17:17698798 RAI1 TC>T	17	17698798	17698800	TC	T	RAI1	c.2538del	NM_030665.4	NP_109590.3:p.(Thr847ProfsTer103)	NC_000017.10:g.17698800del	(Likely) pathogenic	1 lab	2528bb3b0b
X:149638894 MAMLD1 C>T	X	149638894	149638894	C	T	MAMLD1	c.1049C>T	NM_005491.4	NP_005482.2:p.(Pro350Leu)	NC_000023.10:g.149638894C>T	VUS	1 lab	252d2d9bea
22:18609561 TUBA8 C>T	22	18609561	18609561	C	T	TUBA8	c.816C>T	NM_018943.2	NP_061816.1:p.(Tyr272=)	NC_000022.10:g.18609561C>T	(Likely) benign	1 lab	252d61e49c
7:94232757 SGCE CA>C	7	94232757	94232758	CA	C	SGCE	c.669del	NM_003919.3	NP_003910.1:p.(Tyr223Ter)	NC_000007.13:g.94232758del	(Likely) pathogenic	1 lab	e6c4f24021
9:139391794 NOTCH1 G>A	9	139391794	139391794	G	A	NOTCH1	c.6397C>T	NM_017617.5	NP_060087.3:p.(Pro2133Ser)	NC_000009.11:g.139391794G>A	(Likely) benign	1 lab	252e848c87
8:87616430 CNGB3 C>A	8	87616430	87616430	C	A	CNGB3	c.1672G>T	NM_019098.4	NP_061971.3:p.(Gly558Cys)	NC_000008.10:g.87616430C>A	(Likely) pathogenic	1 lab	25305a076a
22:50656427 TUBGCP6 C>T	22	50656427	50656427	C	T	TUBGCP6	c.5288G>A	NM_020461.3	NP_065194.2:p.(Arg1763Gln)	NC_000022.10:g.50656427C>T	VUS	1 lab	25316dc810
5:1221333 SLC6A19 G>A	5	1221333	1221333	G	A	SLC6A19	c.1606G>A	NM_001003841.2	NP_001003841.1:p.(Val536Met)	NC_000005.9:g.1221333G>A	VUS	1 lab	253218e0b9
14:23894645 MYH7 G>A	14	23894645	23894645	G	A	MYH7	c.2287-18C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23894645G>A	(Likely) benign	1 lab	25324c0790
3:148939487 CP C>T	3	148939487	148939487	C	T	CP	c.93G>A	NM_000096.3	NP_000087.1:p.(Thr31=)	NC_000003.11:g.148939487C>T	(Likely) benign	1 lab	253403d87a
1:228467905 OBSCN G>A	1	228467905	228467905	G	A	OBSCN	c.8976G>A	NM_001271223.2	NP_001258152.2:p.(Pro2992=)	NC_000001.10:g.228467905G>A	(Likely) benign	1 lab	2535ab4dff
X:18646756 CDKL5 C>T	X	18646756	18646756	C	T	CDKL5	c.2762C>T	NM_001323289.1	NP_001310218.1:p.(Thr921Ile)	NC_000023.10:g.18646756C>T	(Likely) benign	1 lab	25369b439c
13:84453828 SLITRK1 G>A	13	84453828	84453828	G	A	SLITRK1	c.1815C>T	NM_052910.2	NP_443142.1:p.(His605=)	NC_000013.10:g.84453828G>A	(Likely) benign	1 lab	25377bd882
10:50679174 ERCC6 A>T	10	50679174	50679174	A	T	ERCC6	c.2925-8T>A	NM_000124.2	NP_000115.1:p.?	NC_000010.10:g.50679174A>T	(Likely) benign	1 lab	25393e708e
17:29557401 NF1 G>A	17	29557401	29557401	G	A	NF1	c.3113+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557401G>A	(Likely) pathogenic	1 lab	253978367b
14:74179673 PNMA1 T>C	14	74179673	74179673	T	C	PNMA1	c.670A>G	NM_006029.4	NP_006020.4:p.(Ile224Val)	NC_000014.8:g.74179673T>C	VUS	1 lab	253986ba30
3:52620536 PBRM1 C>A	3	52620536	52620536	C	A	PBRM1	c.3217G>T	NM_018313.4	NP_060783.3:p.(Ala1073Ser)	NC_000003.11:g.52620536C>A	(Likely) benign	1 lab	253a1d08b0
11:26529723 ANO3 G>T	11	26529723	26529723	G	T	ANO3	c.505G>T	NM_031418.4	NP_113606.2:p.(Val169Phe)	NC_000011.9:g.26529723G>T	VUS	1 lab	253b93b552
2:74076633 STAMBP C>A	2	74076633	74076633	C	A	STAMBP	c.867+19C>A	NM_006463.5	NP_006454.1:p.?	NC_000002.11:g.74076633C>A	(Likely) benign	1 lab	2541d315b2
1:114445387 AP4B1 A>G	1	114445387	114445387	A	G	AP4B1	c.211T>C	NM_006594.4	NP_006585.2:p.(Tyr71His)	NC_000001.10:g.114445387A>G	VUS	1 lab	254219ec5b
17:29422123 NF1 C>CT	17	29422123	29422124	C	CT	NF1	c.-205_-204insT	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422123_29422124insT	(Likely) benign	1 lab	25436a0ddf
X:47098762 USP11 G>T	X	47098762	47098762	G	T	USP11	c.428G>T	NM_004651.3	NP_004642.2:p.(Trp143Leu)	NC_000023.10:g.47098762G>T	VUS	1 lab	2544a5e4da
3:46009957 FYCO1 C>T	3	46009957	46009957	C	T	FYCO1	c.869G>A	NM_024513.3	NP_078789.2:p.(Arg290His)	NC_000003.11:g.46009957C>T	(Likely) benign	1 lab	2544e3b432
14:105411147 AHNAK2 G>A	14	105411147	105411147	G	A	AHNAK2	c.10641C>T	NM_138420.3	NP_612429.2:p.(Pro3547=)	NC_000014.8:g.105411147G>A	(Likely) benign	1 lab	2544f44c2e
14:102675594 WDR20 G>GT	14	102675594	102675595	G	GT	WDR20	c.1088dup	NM_001353657.1	NP_001340586.1:p.(Ser364LysfsTer105)	NC_000014.8:g.102675595dup	VUS	1 lab	2547b1af19
17:78178830 CARD14 A>G	17	78178830	78178830	A	G	CARD14	c.2399-4A>G	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78178830A>G	(Likely) benign	1 lab	e6c9a7c2dc
17:29490213 NF1 GA>G	17	29490213	29490214	GA	G	NF1	c.299del	NM_001042492.3	NP_001035957.1:p.(Asp100AlafsTer3)	NC_000017.10:g.29490214del	(Likely) pathogenic	1 lab	254b082a36
X:149638757 MAMLD1 C>A	X	149638757	149638757	C	A	MAMLD1	c.912C>A	NM_005491.4	NP_005482.2:p.(Ala304=)	NC_000023.10:g.149638757C>A	(Likely) benign	1 lab	254c2d2974
19:54973913 MISSING C>G	19	54973913	54973913	C	G	MISSING				NC_000019.9:g.54973913C>G	(Likely) benign	1 lab	254c39b754
16:23080103 USP31 G>A	16	23080103	23080103	G	A	USP31	c.3323C>T	NM_020718.3	NP_065769.3:p.(Ser1108Leu)	NC_000016.9:g.23080103G>A	(Likely) benign	1 lab	254da78827
11:608737 PHRF1 G>A	11	608737	608737	G	A	PHRF1	c.3281G>A	NM_001286581.2	NP_001273510.1:p.(Gly1094Glu)	NC_000011.9:g.608737G>A	(Likely) benign	1 lab	254f2eedfe
9:98775404 ERCC6L2 A>G	9	98775404	98775404	A	G	ERCC6L2	c.4605A>G	NM_020207.4	NP_064592.2:p.(Lys1535=)	NC_000009.11:g.98775404A>G	(Likely) benign	1 lab	25521b0184
12:111885574 SH2B3 G>A	12	111885574	111885574	G	A	SH2B3	c.1351G>A	NM_005475.2	NP_005466.1:p.(Gly451Ser)	NC_000012.11:g.111885574G>A	VUS	1 lab	2552fbd49c
X:83129027 CYLC1 C>A	X	83129027	83129027	C	A	CYLC1	c.1311C>A	NM_021118.2	NP_066941.1:p.(Val437=)	NC_000023.10:g.83129027C>A	(Likely) benign	1 lab	2553351601
22:37333972 CSF2RB GC>G	22	37333972	37333974	GC	G	CSF2RB	c.2124del	NM_000395.3	NP_000386.1:p.(Ser709LeufsTer22)	NC_000022.10:g.37333974del	VUS	1 lab	25545aa2dc
15:89876693 POLG G>A	15	89876693	89876693	G	A	POLG	c.293C>T	NM_002693.2	NP_002684.1:p.(Ala98Val)	NC_000015.9:g.89876693G>A	(Likely) benign	1 lab	255495744d
3:100018106 TBC1D23 G>A	3	100018106	100018106	G	A	TBC1D23	c.1023G>A	NM_018309.4	NP_060779.2:p.(Val341=)	NC_000003.11:g.100018106G>A	(Likely) benign	1 lab	2554c89f28
19:41928070 BCKDHA G>T	19	41928070	41928070	G	T	BCKDHA	c.648G>T	NM_000709.3	NP_000700.1:p.(Ala216=)	NC_000019.9:g.41928070G>T	(Likely) benign	1 lab	25559bf643
11:47256961 DDB2 A>G	11	47256961	47256961	A	G	DDB2	c.1021A>G	NM_000107.2	NP_000098.1:p.(Lys341Glu)	NC_000011.9:g.47256961A>G	VUS	1 lab	255651162b
3:124456690 UMPS A>C	3	124456690	124456690	A	C	UMPS	c.586A>C	NM_000373.3	NP_000364.1:p.(Arg196=)	NC_000003.11:g.124456690A>C	(Likely) benign	1 lab	25581ef57c
3:45869950 LZTFL1 T>G	3	45869950	45869950	T	G	LZTFL1	c.707A>C	NM_001276378.1	NP_001263307.1:p.(Gln236Pro)	NC_000003.11:g.45869950T>G	VUS	1 lab	25592ade27
15:48707809 FBN1 A>AG	15	48707809	48707814	A	AG	FBN1	c.7974dup	NM_000138.4	NP_000129.3:p.(Cys2659LeufsTer46)	NC_000015.9:g.48707814dup	(Likely) pathogenic	1 lab	255b017dd6
14:91804426 CCDC88C C>A	14	91804426	91804426	C	A	CCDC88C	c.973G>T	NM_001080414.3	NP_001073883.2:p.(Val325Leu)	NC_000014.8:g.91804426C>A	(Likely) benign	1 lab	255d81c07b
16:70298925 AARS1 C>G	16	70298925	70298925	C	G	AARS1	c.1428G>C	NM_001605.2	NP_001596.2:p.(Arg476=)	NC_000016.9:g.70298925C>G	(Likely) benign	1 lab	255eb7016a
15:67457400 SMAD3 A>C	15	67457400	67457400	A	C	SMAD3	c.374A>C	NM_005902.3	NP_005893.1:p.(Tyr125Ser)	NC_000015.9:g.67457400A>C	VUS	1 lab	255f8a99e8
19:5896466 NDUFA11 C>A	19	5896466	5896466	C	A	NDUFA11	c.311G>T	NM_001193375.1	NP_001180304.1:p.(Arg104Leu)	NC_000019.9:g.5896466C>A	VUS	1 lab	255ff185e8
19:11118595 SMARCA4 G>A	19	11118595	11118595	G	A	SMARCA4	c.2019G>A	NM_001128844.1	NP_001122316.1:p.(Gln673=)	NC_000019.9:g.11118595G>A	(Likely) benign	1 lab	25602456c4
13:23909255 SACS A>T	13	23909255	23909255	A	T	SACS	c.8760T>A	NM_014363.5	NP_055178.3:p.(Pro2920=)	NC_000013.10:g.23909255A>T	(Likely) benign	1 lab	25636782af
3:148884864 HPS3 C>T	3	148884864	148884864	C	T	HPS3	c.2633C>T	NM_032383.4	NP_115759.2:p.(Pro878Leu)	NC_000003.11:g.148884864C>T	VUS	1 lab	2563d70dfc
6:43550882 POLH A>G	6	43550882	43550882	A	G	POLH	c.272+4A>G	NM_006502.2	NP_006493.1:p.?	NC_000006.11:g.43550882A>G	VUS	1 lab	2565bfba78
9:13193320 MPDZ G>A	9	13193320	13193320	G	A	MPDZ	c.1657-8C>T	NM_001330637.1	NP_001317566.1:p.?	NC_000009.11:g.13193320G>A	(Likely) benign	1 lab	25685cbf67
3:48627651 COL7A1 C>T	3	48627651	48627651	C	T	COL7A1	c.2045G>A	NM_000094.3	NP_000085.1:p.(Arg682Gln)	NC_000003.11:g.48627651C>T	(Likely) benign	1 lab	2568771cee
17:8151331 CTC1 G>T	17	8151331	8151331	G	T	CTC1	c.24C>A	NM_025099.6	NP_079375.3:p.(Val8=)	NC_000017.10:g.8151331G>T	VUS	1 lab	2568d6b15e
2:189953457 COL5A2 T>C	2	189953457	189953457	T	C	COL5A2	c.609A>G	NM_000393.4	NP_000384.2:p.(Gly203=)	NC_000002.11:g.189953457T>C	(Likely) benign	1 lab	2568e0f373
19:4550183 SEMA6B G>A	19	4550183	4550183	G	A	SEMA6B	c.1223C>T	NM_032108.4	NP_115484.2:p.(Ala408Val)	NC_000019.9:g.4550183G>A	(Likely) benign	1 lab	e6cbea904b
17:38241006 THRA A>G	17	38241006	38241006	A	G	THRA	c.514A>G	NM_199334.5	NP_955366.1:p.(Thr172Ala)	NC_000017.10:g.38241006A>G	VUS	1 lab	e6ce028600
12:120288042 CIT C>T	12	120288042	120288042	C	T	CIT	c.452G>A	NM_001206999.1	NP_001193928.1:p.(Arg151Gln)	NC_000012.11:g.120288042C>T	(Likely) benign	1 lab	256afd29c1
9:2115920 SMARCA2 C>T	9	2115920	2115920	C	T	SMARCA2	c.3555C>T	NM_003070.4	NP_003061.3:p.(Leu1185=)	NC_000009.11:g.2115920C>T	(Likely) benign	1 lab	256b2dc04b
5:149501579 PDGFRB G>T	5	149501579	149501579	G	T	PDGFRB	c.1725C>A	NM_001355017.1	NP_001341946.1:p.(Ser575Arg)	NC_000005.9:g.149501579G>T	VUS	1 lab	256bd16c2e
1:151372055 PSMB4 G>A	1	151372055	151372055	G	A	PSMB4	c.-9G>A	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151372055G>A	(Likely) pathogenic	1 lab	e6d059fcd3
X:53607876 HUWE1 G>A	X	53607876	53607876	G	A	HUWE1	c.5631C>T	NM_031407.6	NP_113584.3:p.(Ala1877=)	NC_000023.10:g.53607876G>A	(Likely) benign	1 lab	256eb35334
X:23397812 PTCHD1 C>A	X	23397812	23397812	C	A	PTCHD1	c.456C>A	NM_173495.2	NP_775766.2:p.(Asp152Glu)	NC_000023.10:g.23397812C>A	VUS	1 lab	257034c4b6
X:3241056 MXRA5 G>T	X	3241056	3241056	G	T	MXRA5	c.2670C>A	NM_015419.3	NP_056234.2:p.(Asp890Glu)	NC_000023.10:g.3241056G>T	(Likely) benign	1 lab	2570dfe8b6
X:77380555 PGK1 G>A	X	77380555	77380555	G	A	PGK1	c.1114+7G>A	NM_000291.3	NP_000282.1:p.?	NC_000023.10:g.77380555G>A	(Likely) benign	1 lab	257157a34b
1:200008803 NR5A2 C>T	1	200008803	200008803	C	T	NR5A2	c.82C>T	NM_205860.2	NP_995582.1:p.(Arg28Ter)	NC_000001.10:g.200008803C>T	VUS	1 lab	2572a5dc9b
X:153171712 AVPR2 G>A	X	153171712	153171712	G	A	AVPR2	c.752G>A	NM_001146151.2	NP_001139623.1:p.(Arg251His)	NC_000023.10:g.153171712G>A	(Likely) benign	1 lab	2573b52fb6
9:12698527 TYRP1 C>T	9	12698527	12698527	C	T	TYRP1	c.785C>T	NM_000550.2	NP_000541.1:p.(Thr262Met)	NC_000009.11:g.12698527C>T	VUS	1 lab	25750d9acb
16:1502807 CLCN7 C>T	16	1502807	1502807	C	T	CLCN7	c.1302G>A	NM_001287.5	NP_001278.1:p.(Ser434=)	NC_000016.9:g.1502807C>T	(Likely) benign	1 lab	257571486a
1:2317315 MORN1 C>T	1	2317315	2317315	C	T	MORN1	c.380G>A	NM_024848.3	NP_079124.1:p.(Arg127Gln)	NC_000001.10:g.2317315C>T	(Likely) benign	1 lab	2577556b1a
X:153195550 NAA10 G>A	X	153195550	153195550	G	A	NAA10	c.598C>T	NM_003491.3	NP_003482.1:p.(Leu200=)	NC_000023.10:g.153195550G>A	(Likely) benign	1 lab	257945e15c
9:13137975 MPDZ A>G	9	13137975	13137975	A	G	MPDZ	c.4181T>C	NM_003829.4	NP_003820.2:p.(Ile1394Thr)	NC_000009.11:g.13137975A>G	VUS	1 lab	25796d2046
8:61754617 CHD7 T>A	8	61754617	61754617	T	A	CHD7				NC_000008.10:g.61754617T>A	(Likely) benign	1 lab	257a94f8f8
3:53894245 IL17RB G>A	3	53894245	53894245	G	A	IL17RB	c.936G>A	NM_018725.4	NP_061195.2:p.(Met312Ile)	NC_000003.11:g.53894245G>A	(Likely) benign	1 lab	257c52a5e1
2:230723686 TRIP12 G>A	2	230723686	230723686	G	A	TRIP12	c.829C>T	NM_001348322.1	NP_001335251.1:p.(Arg277Cys)	NC_000002.11:g.230723686G>A	VUS	1 lab	257d52e331
6:56495092 DST GCTT>G	6	56495092	56495102	GCTT	G	DST	c.4229_4231del	NM_001374736.1	NP_001361665.1:p.(Glu1410del)	NC_000006.11:g.56495100_56495102del	VUS	1 lab	257d91374c
5:14479455 TRIO T>C	5	14479455	14479455	T	C	TRIO	c.6239T>C	NM_007118.3	NP_009049.2:p.(Phe2080Ser)	NC_000005.9:g.14479455T>C	VUS	1 lab	257dba71b6
11:31703557 ELP4 G>A	11	31703557	31703557	G	A	ELP4	c.1366G>A	NM_001288726.1	NP_001275655.1:p.(Gly456Arg)	NC_000011.9:g.31703557G>A	(Likely) benign	1 lab	257e14cbb9
9:133961041 LAMC3 G>A	9	133961041	133961041	G	A	LAMC3	c.4161G>A	NM_006059.3	NP_006050.3:p.(Ala1387=)	NC_000009.11:g.133961041G>A	(Likely) benign	1 lab	257e5c97a4
5:112103009 APC TG>T	5	112103009	112103012	TG	T	APC	c.347del	NM_000038.6	NP_000029.2:p.(Gly116ValfsTer9)	NC_000005.9:g.112103012del	(Likely) pathogenic	1 lab	e6d5837808
15:78458650 IDH3A A>G	15	78458650	78458650	A	G	IDH3A	c.1017+6A>G	NM_005530.3	NP_005521.1:p.?	NC_000015.9:g.78458650A>G	(Likely) benign	1 lab	25800d27b5
X:53270962 IQSEC2 A>C	X	53270962	53270962	A	C	IQSEC2	c.3015+4T>G	NM_001111125.2	NP_001104595.1:p.?	NC_000023.10:g.53270962A>C	VUS	1 lab	25815f33ff
1:156843574 NTRK1 G>C	1	156843574	156843574	G	C	NTRK1	c.1000G>C	NM_002529.3	NP_002520.2:p.(Glu334Gln)	NC_000001.10:g.156843574G>C	VUS	1 lab	2582b79dbf
2:179480127 TTN T>G	2	179480127	179480127	T	G	TTN	c.48545A>C	NM_001267550.1	NP_001254479.1:p.(Asp16182Ala)	NC_000002.11:g.179480127T>G	VUS	1 lab	25842a9807
3:58095329 FLNB T>C	3	58095329	58095329	T	C	FLNB	c.2226T>C	NM_001164317.1	NP_001157789.1:p.(Pro742=)	NC_000003.11:g.58095329T>C	(Likely) benign	1 lab	2584f811a8
1:228539115 OBSCN G>A	1	228539115	228539115	G	A	OBSCN	c.21384G>A	NM_001271223.2	NP_001258152.2:p.(Ala7128=)	NC_000001.10:g.228539115G>A	(Likely) benign	1 lab	2585d3e206
2:48018084 MSH6 AG>A	2	48018084	48018085	AG	A	MSH6	c.280del	NM_000179.3	NP_000170.1:p.(Asp94IlefsTer55)	NC_000002.11:g.48018085del	(Likely) pathogenic	1 lab	25860cf839
10:95263065 CEP55 G>A	10	95263065	95263065	G	A	CEP55	c.379G>A	NM_018131.4	NP_060601.3:p.(Val127Ile)	NC_000010.10:g.95263065G>A	VUS	1 lab	25870f8c3a
17:18034131 MYO15A A>AGTGTGT	17	18034131	18034185	A	AGTGTGT	MYO15A	c.4038+56_4038+61dup	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18034180_18034185dup	(Likely) benign	1 lab	2587418da3
7:50607721 DDC C>T	7	50607721	50607721	C	T	DDC	c.207G>A	NM_001082971.1	NP_001076440.1:p.(Thr69=)	NC_000007.13:g.50607721C>T	(Likely) benign	1 lab	2587447e1c
6:111726679 REV3L T>A	6	111726679	111726679	T	A	REV3L	c.325A>T	NM_001286431.2	NP_001273360.1:p.(Arg109Trp)	NC_000006.11:g.111726679T>A	VUS	1 lab	e6d85c9dc2
5:127728858 FBN2 C>T	5	127728858	127728858	C	T	FBN2	c.1435G>A	NM_001999.3	NP_001990.2:p.(Gly479Arg)	NC_000005.9:g.127728858C>T	VUS	1 lab	2587bb8168
17:29586090 NF1 A>G	17	29586090	29586090	A	G	NF1	c.4310A>G	NM_000267.3	NP_000258.1:p.(Glu1437Gly)	NC_000017.10:g.29586090A>G	VUS	1 lab	258ae34690
8:27320815 CHRNA2 C>T	8	27320815	27320815	C	T	CHRNA2	c.1145G>A	NM_000742.3	NP_000733.2:p.(Arg382Gln)	NC_000008.10:g.27320815C>T	VUS	1 lab	258b8513a1
4:70455265 UGT2A2 C>T	4	70455265	70455265	C	T	UGT2A2	c.1436G>A	NM_001105677.2	NP_001099147.2:p.(Gly479Glu)	NC_000004.11:g.70455265C>T	VUS	1 lab	258c19d6e7
7:91843957 KRIT1 A>T	7	91843957	91843957	A	T	KRIT1	c.1698T>A	NM_004912.4	NP_004903.2:p.(Tyr566Ter)	NC_000007.13:g.91843957A>T	(Likely) pathogenic	1 lab	258cd348c6
X:153689517 PLXNA3 T>C	X	153689517	153689517	T	C	PLXNA3	c.673T>C	NM_017514.4	NP_059984.3:p.(Tyr225His)	NC_000023.10:g.153689517T>C	VUS	1 lab	258ed6a8bf
1:220101612 SLC30A10 G>C	1	220101612	220101612	G	C	SLC30A10	c.171C>G	NM_018713.2	NP_061183.2:p.(Ala57=)	NC_000001.10:g.220101612G>C	(Likely) benign	1 lab	25900f230d
X:12736421 FRMPD4 C>G	X	12736421	12736421	C	G	FRMPD4	c.3476C>G	NM_014728.3	NP_055543.2:p.(Ser1159Ter)	NC_000023.10:g.12736421C>G	VUS	1 lab	e6dbe6e3bb
11:6640135 TPP1 C>T	11	6640135	6640135	C	T	TPP1	c.101G>A	NM_000391.3	NP_000382.3:p.(Gly34Asp)	NC_000011.9:g.6640135C>T	(Likely) benign	1 lab	25905faf55
17:60631057 TLK2 G>C	17	60631057	60631057	G	C	TLK2	c.661G>C	NM_001284333.1	NP_001271262.1:p.(Glu221Gln)	NC_000017.10:g.60631057G>C	VUS	1 lab	2590a70d49
9:79322161 PRUNE2 C>T	9	79322161	79322161	C	T	PRUNE2	c.5029G>A	NM_015225.3	NP_056040.2:p.(Asp1677Asn)	NC_000009.11:g.79322161C>T	(Likely) benign	1 lab	25914338b6
12:132549254 EP400 C>T	12	132549254	132549254	C	T	EP400	c.8376C>T	NM_015409.4	NP_056224.3:p.(Pro2792=)	NC_000012.11:g.132549254C>T	(Likely) benign	1 lab	2592ad9399
1:229794848 URB2 T>G	1	229794848	229794848	T	G	URB2	c.4379T>G	NM_001314021.1	NP_001300950.1:p.(Val1460Gly)	NC_000001.10:g.229794848T>G	VUS	1 lab	25933898cb
17:76568881 DNAH17 A>G	17	76568881	76568881	A	G	DNAH17	c.441T>C	NM_173628.3	NP_775899.3:p.(Asn147=)	NC_000017.10:g.76568881A>G	(Likely) benign	1 lab	2593f8c091
22:21101940 PI4KA C>T	22	21101940	21101940	C	T	PI4KA	c.3294G>A	NM_058004.3	NP_477352.3:p.(Thr1098=)	NC_000022.10:g.21101940C>T	(Likely) benign	1 lab	259434bf58
X:69615673 KIF4A C>T	X	69615673	69615673	C	T	KIF4A	c.2385C>T	NM_012310.4	NP_036442.3:p.(Leu795=)	NC_000023.10:g.69615673C>T	(Likely) benign	1 lab	2594aebc10
16:72992627 ZFHX3 TCCGCC>T	16	72992627	72992632	TCCGCC	T	ZFHX3	c.1413_1417del	NM_006885.4	NP_008816.3:p.(Ala472GlyfsTer28)	NC_000016.9:g.72992628_72992632del	VUS	1 lab	259597e3be
1:57351611 C8A C>T	1	57351611	57351611	C	T	C8A	c.867C>T	NM_000562.2	NP_000553.1:p.(Phe289=)	NC_000001.10:g.57351611C>T	(Likely) benign	1 lab	25aa7d26dd
22:27024296 CRYBA4 C>T	22	27024296	27024296	C	T	CRYBA4	c.345C>T	NM_001886.2	NP_001877.1:p.(Phe115=)	NC_000022.10:g.27024296C>T	(Likely) benign	1 lab	259b38e3f3
21:47858272 PCNT T>C	21	47858272	47858272	T	C	PCNT	c.9273+22T>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47858272T>C	(Likely) benign	1 lab	259b7d2ba5
9:14740189 FREM1 G>A	9	14740189	14740189	G	A	FREM1	c.6298C>T	NM_144966.5	NP_659403.4:p.(Arg2100Trp)	NC_000009.11:g.14740189G>A	VUS	1 lab	259cd8958b
15:25617156 UBE3A AC>A	15	25617156	25617158	AC	A	UBE3A	c.362-198del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25617158del	(Likely) benign	1 lab	259db6b704
X:18956761 PHKA2 C>T	X	18956761	18956761	C	T	PHKA2	c.1025G>A	NM_000292.2	NP_000283.1:p.(Ser342Asn)	NC_000023.10:g.18956761C>T	(Likely) benign	1 lab	259e2af022
X:53265648 IQSEC2 G>A	X	53265648	53265648	G	A	IQSEC2	c.3307C>T	NM_001111125.2	NP_001104595.1:p.(Arg1103Trp)	NC_000023.10:g.53265648G>A	(Likely) benign	1 lab	25a0a53dde
X:108904831 ACSL4 T>C	X	108904831	108904831	T	C	ACSL4	c.1749A>G	NM_022977.2	NP_075266.1:p.(Val583=)	NC_000023.10:g.108904831T>C	(Likely) benign	1 lab	25a0f916eb
13:101844267 NALCN C>T	13	101844267	101844267	C	T	NALCN	c.1764+1G>A	NM_001350748.1	NP_001337677.1:p.?	NC_000013.10:g.101844267C>T	(Likely) pathogenic	1 lab	25a2935f7d
12:80660309 OTOGL C>T	12	80660309	80660309	C	T	OTOGL	c.2276C>T	NM_173591.3	NP_775862.3:p.(Pro759Leu)	NC_000012.11:g.80660309C>T	(Likely) benign	1 lab	25a4298b2c
1:10342600 KIF1B T>C	1	10342600	10342600	T	C	KIF1B	c.1296+9T>C	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10342600T>C	(Likely) benign	1 lab	25a6a4910e
17:38935980 KRT27 C>T	17	38935980	38935980	C	T	KRT27	c.818G>A	NM_181537.3	NP_853515.2:p.(Arg273Lys)	NC_000017.10:g.38935980C>T	(Likely) benign	1 lab	25ac93631e
X:153191641 ARHGAP4 T>A	X	153191641	153191641	T	A	ARHGAP4	c.16A>T	NM_001164741.1	NP_001158213.1:p.(Lys6Ter)	NC_000023.10:g.153191641T>A	VUS	1 lab	25ac9bb91c
14:68265242 ZFYVE26 G>A	14	68265242	68265242	G	A	ZFYVE26	c.1737C>T	NM_015346.3	NP_056161.2:p.(Phe579=)	NC_000014.8:g.68265242G>A	(Likely) benign	1 lab	25ad64997a
X:55051235 ALAS2 G>A	X	55051235	55051235	G	A	ALAS2	c.220C>T	NM_000032.5	NP_000023.2:p.(Leu74=)	NC_000023.10:g.55051235G>A	(Likely) benign	1 lab	25aeed8b8f
3:38651305 SCN5A G>A	3	38651305	38651305	G	A	SCN5A	c.854C>T	NM_001160160.1	NP_001153632.1:p.(Thr285Ile)	NC_000003.11:g.38651305G>A	VUS	1 lab	25af5af845
17:73520348 TSEN54 A>G	17	73520348	73520348	A	G	TSEN54	c.1436A>G	NM_207346.2	NP_997229.2:p.(Asp479Gly)	NC_000017.10:g.73520348A>G	VUS	1 lab	25b11229d6
5:39342213 C9 C>G	5	39342213	39342213	C	G	C9	c.163G>C	NM_001737.3	NP_001728.1:p.(Asp55His)	NC_000005.9:g.39342213C>G	VUS	1 lab	25b4d7c18d
22:30035078 NF2 G>T	22	30035078	30035078	G	T	NF2	c.241-1G>T	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30035078G>T	(Likely) pathogenic	1 lab	25b8bb3510
16:51170930 SALL1 A>AGGGGC	16	51170930	51170944	A	AGGGGC	SALL1	c.*88_*92dup	NM_002968.2	NP_002959.2:p.?	NC_000016.9:g.51170940_51170944dup	(Likely) benign	1 lab	25b8e72742
8:97243363 UQCRB A>G	8	97243363	97243363	A	G	UQCRB	c.396-3T>C	NM_001254752.1	NP_001241681.1:p.?	NC_000008.10:g.97243363A>G	(Likely) benign	1 lab	25b925b427
9:37436697 GRHPR G>A	9	37436697	37436697	G	A	GRHPR	c.905G>A	NM_012203.1	NP_036335.1:p.(Arg302His)	NC_000009.11:g.37436697G>A	VUS	1 lab	25b9668cf3
X:67941544 STARD8 C>T	X	67941544	67941544	C	T	STARD8	c.2415C>T	NM_001142503.2	NP_001135975.1:p.(Ser805=)	NC_000023.10:g.67941544C>T	(Likely) benign	1 lab	25b9ffeb8b
5:176638940 NSD1 A>G	5	176638940	176638940	A	G	NSD1	c.3540A>G	NM_022455.4	NP_071900.2:p.(Lys1180=)	NC_000005.9:g.176638940A>G	(Likely) benign	1 lab	25bacf74c1
6:57018849 ZNF451 C>T	6	57018849	57018849	C	T	ZNF451	c.3070+4C>T	NM_001031623.3	NP_001026794.1:p.?	NC_000006.11:g.57018849C>T	(Likely) benign	1 lab	25bb3949d9
22:36715659 MYH9 CCT>C	22	36715659	36715661	CCT	C	MYH9	c.1032_1033del	NM_002473.6	NP_002464.1:p.(Val346SerfsTer15)	NC_000022.10:g.36715660_36715661del	VUS	1 lab	25bb446a94
8:71068718 NCOA2 C>T	8	71068718	71068718	C	T	NCOA2	c.1882G>A	NM_006540.4	NP_006531.1:p.(Gly628Arg)	NC_000008.10:g.71068718C>T	VUS	1 lab	e6e62b47be
X:153278798 IRAK1 C>A	X	153278798	153278798	C	A	IRAK1	c.1626G>T	NM_001569.3	NP_001560.2:p.(Pro542=)	NC_000023.10:g.153278798C>A	(Likely) benign	1 lab	25bbe97a97
1:151377799 POGZ C>A	1	151377799	151377799	C	A	POGZ	c.3712G>T	NM_015100.3	NP_055915.2:p.(Glu1238Ter)	NC_000001.10:g.151377799C>A	(Likely) pathogenic	1 lab	25bca079cf
19:3557401 MFSD12 T>C	19	3557401	3557401	T	C	MFSD12	c.1A>G	NM_174983.5	NP_778148.2:p.(Met1?)	NC_000019.9:g.3557401T>C	VUS	1 lab	25be744c41
11:17523040 USH1C G>A	11	17523040	17523040	G	A	USH1C	c.2269C>T	NM_153676.3	NP_710142.1:p.(Arg757Cys)	NC_000011.9:g.17523040G>A	VUS	1 lab	25bed8710c
15:72105935 NR2E3 C>T	15	72105935	72105935	C	T	NR2E3	c.953C>T	NM_016346.3	NP_057430.1:p.(Thr318Met)	NC_000015.9:g.72105935C>T	VUS	1 lab	25bf3ca1a4
2:158683037 ACVR1 T>C	2	158683037	158683037	T	C	ACVR1	c.-182-7966A>G	NM_001105.5	NP_001096.1:p.?	NC_000002.11:g.158683037T>C	(Likely) benign	1 lab	e6e8ee4220
X:149761114 MTM1 C>T	X	149761114	149761114	C	T	MTM1	c.38C>T	NM_000252.2	NP_000243.1:p.(Ser13Phe)	NC_000023.10:g.149761114C>T	VUS	1 lab	25c0803a51
X:152710247 TREX2 C>T	X	152710247	152710247	C	T	TREX2	c.642G>A	NM_080701.3	NP_542432.2:p.(Glu214=)	NC_000023.10:g.152710247C>T	(Likely) benign	1 lab	25c2b28889
22:38121505 TRIOBP A>G	22	38121505	38121505	A	G	TRIOBP	c.2942A>G	NM_001039141.2	NP_001034230.1:p.(His981Arg)	NC_000022.10:g.38121505A>G	(Likely) benign	1 lab	25c4a7b174
1:61872228 NFIA C>CCT	1	61872228	61872230	C	CCT	NFIA	c.1255-5_1255-4insTC	NM_005595.4	NP_005586.1:p.?	NC_000001.10:g.61872229_61872230insTC	(Likely) benign	1 lab	25c5191a13
2:179603061 TTN C>T	2	179603061	179603061	C	T	TTN	c.14119G>A	NM_001267550.2	NP_001254479.2:p.(Glu4707Lys)	NC_000002.11:g.179603061C>T	VUS	1 lab	e6e8f8069e
12:49579630 TUBA1A C>T	12	49579630	49579630	C	T	TUBA1A	c.519G>A	NM_001270399.1	NP_001257328.1:p.(Pro173=)	NC_000012.11:g.49579630C>T	(Likely) benign	1 lab	25c6894e73
X:153072776 PDZD4 G>A	X	153072776	153072776	G	A	PDZD4	c.57C>T	NM_001303513.1	NP_001290442.1:p.(Gly19=)	NC_000023.10:g.153072776G>A	(Likely) benign	1 lab	25c7668fb0
3:50385077 NPRL2 C>T	3	50385077	50385077	C	T	NPRL2	c.1103G>A	NM_006545.4	NP_006536.3:p.(Arg368Gln)	NC_000003.11:g.50385077C>T	(Likely) benign	1 lab	25c8ab9249
2:179426368 TTN A>C	2	179426368	179426368	A	C	TTN	c.84491T>G	NM_001267550.1	NP_001254479.1:p.(Val28164Gly)	NC_000002.11:g.179426368A>C	VUS	1 lab	25cb67d973
X:49113429 FOXP3 C>T	X	49113429	49113429	C	T	FOXP3	c.495G>A	NM_014009.3	NP_054728.2:p.(Pro165=)	NC_000023.10:g.49113429C>T	(Likely) benign	1 lab	25cdeb1c5a
1:45446796 EIF2B3 C>T	1	45446796	45446796	C	T	EIF2B3	c.45G>A	NM_020365.4	NP_065098.1:p.(Arg15=)	NC_000001.10:g.45446796C>T	(Likely) benign	1 lab	25cedbcd1d
5:77461466 AP3B1 C>G	5	77461466	77461466	C	G	AP3B1	c.1051G>C	NM_001271769.1	NP_001258698.1:p.(Ala351Pro)	NC_000005.9:g.77461466C>G	VUS	1 lab	25cef4b7c9
7:70255781 AUTS2 C>T	7	70255781	70255781	C	T	AUTS2				NC_000007.13:g.70255781C>T	(Likely) benign	1 lab	25cf13ef6d
9:32544020 TOPORS T>C	9	32544020	32544020	T	C	TOPORS	c.503A>G	NM_005802.4	NP_005793.2:p.(Asn168Ser)	NC_000009.11:g.32544020T>C	VUS	1 lab	25d0f074b2
12:120260721 CIT A>C	12	120260721	120260721	A	C	CIT	c.1014T>G	NM_001206999.1	NP_001193928.1:p.(Ile338Met)	NC_000012.11:g.120260721A>C	VUS	1 lab	25d33a72ad
9:744573 KANK1 C>CA	9	744573	744577	C	CA	KANK1	c.3984dup	NM_001256877.2	NP_001243806.1:p.(Ala1329SerfsTer8)	NC_000009.11:g.744577dup	VUS	1 lab	25d3777fa9
12:133311065 ANKLE2 TA>T	12	133311065	133311066	TA	T	ANKLE2	c.1796del	NM_015114.3	NP_055929.1:p.(Leu599GlnfsTer10)	NC_000012.11:g.133311066del	(Likely) pathogenic	1 lab	25d5bb1c51
12:13906449 GRIN2B G>A	12	13906449	13906449	G	A	GRIN2B	c.812C>T	NM_000834.4	NP_000825.2:p.(Ala271Val)	NC_000012.11:g.13906449G>A	(Likely) benign	1 lab	25d6453749
7:117235052 CFTR T>C	7	117235052	117235052	T	C	CFTR	c.2559T>C	NM_000492.3	NP_000483.3:p.(Ile853=)	NC_000007.13:g.117235052T>C	(Likely) benign	1 lab	25d7993007
17:29562792 NF1 T>G	17	29562792	29562792	T	G	NF1	c.3870+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562792T>G	(Likely) pathogenic	1 lab	25d947f105
2:179422481 TTN C>G	2	179422481	179422481	C	G	TTN	c.87600G>C	NM_001267550.1	NP_001254479.1:p.(Met29200Ile)	NC_000002.11:g.179422481C>G	VUS	1 lab	25daf0b0f9
15:62210412 VPS13C A>C	15	62210412	62210412	A	C	VPS13C	c.7683T>G	NM_001018088.2	NP_001018098.1:p.(Val2561=)	NC_000015.9:g.62210412A>C	(Likely) benign	1 lab	25db0452b6
5:112174651 APC AATTAAT>A	5	112174651	112174657	AATTAAT	A	APC	c.3361_3366del	NM_000038.6	NP_000029.2:p.(Ile1121_Asn1122del)	NC_000005.9:g.112174652_112174657del	VUS	1 lab	25db2c3cda
8:145649235 VPS28 C>T	8	145649235	145649235	C	T	VPS28	c.619G>A	NM_016208.3	NP_057292.1:p.(Asp207Asn)	NC_000008.10:g.145649235C>T	VUS	1 lab	25de0419a9
7:21678568 DNAH11 G>T	7	21678568	21678568	G	T	DNAH11	c.4829G>T	NM_001277115.2	NP_001264044.1:p.(Cys1610Phe)	NC_000007.13:g.21678568G>T	VUS	1 lab	e6e93a8ab6
2:232143122 ARMC9 G>T	2	232143122	232143122	G	T	ARMC9	c.1502G>T	NM_001271466.3	NP_001258395.1:p.(Gly501Val)	NC_000002.11:g.232143122G>T	VUS	1 lab	25df334a3d
19:43375949 PSG1 G>A	19	43375949	43375949	G	A	PSG1	c.679C>T	NM_006905.2	NP_008836.2:p.(Arg227Cys)	NC_000019.9:g.43375949G>A	VUS	1 lab	25e0547bf7
15:28202756 OCA2 G>A	15	28202756	28202756	G	A	OCA2	c.1762C>T	NM_000275.2	NP_000266.2:p.(Arg588Trp)	NC_000015.9:g.28202756G>A	VUS	1 lab	25e06d3a52
5:176942188 DDX41 T>G	5	176942188	176942188	T	G	DDX41	c.265A>C	NM_001321732.1	NP_001308661.1:p.(Ile89Leu)	NC_000005.9:g.176942188T>G	(Likely) benign	1 lab	25e2153657
7:94057691 COL1A2 C>T	7	94057691	94057691	C	T	COL1A2	c.3613C>T	NM_000089.3	NP_000080.2:p.(Arg1205Trp)	NC_000007.13:g.94057691C>T	VUS	1 lab	25e593b65e
2:178417463 IFT70B G>A	2	178417463	178417463	G	A	IFT70B	c.29C>T	NM_152517.2	NP_689730.2:p.(Pro10Leu)	NC_000002.11:g.178417463G>A	(Likely) benign	1 lab	260bd5982e
16:2121540 TSC2 C>T	16	2121540	2121540	C	T	TSC2	c.1869C>T	NM_000548.3	NP_000539.2:p.(Ala623=)	NC_000016.9:g.2121540C>T	(Likely) benign	1 lab	25e7e45f47
17:7592361 WRAP53 C>A	17	7592361	7592361	C	A	WRAP53	c.395C>A	NM_018081.2	NP_060551.2:p.(Thr132Asn)	NC_000017.10:g.7592361C>A	(Likely) benign	1 lab	25eada5def
16:2115664 TSC2 C>A	16	2115664	2115664	C	A	TSC2	c.1716+28C>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2115664C>A	(Likely) benign	1 lab	28d155ebfb
4:1396767 NKX1-1 C>G	4	1396767	1396767	C	G	NKX1-1	c.1300G>C	NM_001290079.1	NP_001277008.1:p.(Gly434Arg)	NC_000004.11:g.1396767C>G	VUS	1 lab	25ef7cee76
1:207644262 CR2 G>A	1	207644262	207644262	G	A	CR2	c.1402+1G>A	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207644262G>A	(Likely) pathogenic	1 lab	25f10e220b
20:2841680 VPS16 G>A	20	2841680	2841680	G	A	VPS16	c.695G>A	NM_022575.4	NP_072097.2:p.(Arg232Gln)	NC_000020.10:g.2841680G>A	VUS	1 lab	e708aa10f5
13:39338457 FREM2 G>A	13	39338457	39338457	G	A	FREM2	c.5280G>A	NM_207361.5	NP_997244.4:p.(Thr1760=)	NC_000013.10:g.39338457G>A	(Likely) benign	1 lab	25f2b4aef9
18:77477532 CTDP1 C>T	18	77477532	77477532	C	T	CTDP1	c.2069-3C>T	NM_004715.4	NP_004706.3:p.?	NC_000018.9:g.77477532C>T	(Likely) benign	1 lab	25f6c52cb6
11:117266279 CEP164 A>T	11	117266279	117266279	A	T	CEP164	c.2930A>T	NM_014956.4	NP_055771.4:p.(His977Leu)	NC_000011.9:g.117266279A>T	VUS	1 lab	25f87e26d8
19:45917246 ERCC1 C>T	19	45917246	45917246	C	T	ERCC1	c.749G>A	NM_001983.3	NP_001974.1:p.(Ser250Asn)	NC_000019.9:g.45917246C>T	VUS	1 lab	25fa602afe
X:12735017 FRMPD4 C>A	X	12735017	12735017	C	A	FRMPD4	c.2439C>A	NM_014728.3	NP_055543.2:p.(Gly813=)	NC_000023.10:g.12735017C>A	(Likely) benign	1 lab	25fb9ea19a
17:29652975 NF1 TTCTC>T	17	29652975	29652982	TTCTC	T	NF1	c.4977_4980del	NM_001042492.3	NP_001035957.1:p.(Lys1661GlyfsTer36)	NC_000017.10:g.29652979_29652982del	(Likely) pathogenic	1 lab	260008ab15
2:241715346 KIF1A G>A	2	241715346	241715346	G	A	KIF1A	c.883-3C>T	NM_004321.8	NP_004312.2:p.?	NC_000002.11:g.241715346G>A	(Likely) benign	1 lab	e6ef776273
12:31254752 DDX11 C>T	12	31254752	31254752	C	T	DDX11	c.2053-15C>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31254752C>T	(Likely) benign	1 lab	e6f12aa8d0
2:15470895 NBAS TTAAAGAA>T	2	15470895	15470902	TTAAAGAA	T	NBAS	c.4180-13_4180-7del	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15470896_15470902del	VUS	1 lab	260274e855
X:70367647 NLGN3 C>T	X	70367647	70367647	C	T	NLGN3	c.48C>T	NM_181303.1	NP_851820.1:p.(Pro16=)	NC_000023.10:g.70367647C>T	(Likely) benign	1 lab	2603303519
19:45912243 POLR1G G>C	19	45912243	45912243	G	C	POLR1G	c.1023G>C	NM_001297590.1	NP_001284519.1:p.(Met341Ile)	NC_000019.9:g.45912243G>C	VUS	1 lab	260407bf0e
16:734253 STUB1 C>T	16	734253	734253	C	T	STUB1				NC_000016.9:g.734253C>T	(Likely) benign	1 lab	2604a07bd4
12:125449509 DHX37 C>T	12	125449509	125449509	C	T	DHX37	c.1779G>A	NM_032656.4	NP_116045.2:p.(Leu593=)	NC_000012.11:g.125449509C>T	(Likely) benign	1 lab	2604cde314
9:137619211 COL5A1 C>T	9	137619211	137619211	C	T	COL5A1	c.754C>T	NM_000093.4	NP_000084.3:p.(Pro252Ser)	NC_000009.11:g.137619211C>T	VUS	1 lab	26056989b1
16:50756589 NOD2 G>A	16	50756589	50756589	G	A	NOD2	c.2771G>A	NM_022162.1	NP_071445.1:p.(Gly924Asp)	NC_000016.9:g.50756589G>A	(Likely) benign	1 lab	26056e8147
8:15397940 TUSC3 A>T	8	15397940	15397940	A	T	TUSC3	c.1A>T	NM_001356429.1	NP_001343358.1:p.(Met1?)	NC_000008.10:g.15397940A>T	(Likely) pathogenic	1 lab	2607383f44
1:120299937 HMGCS2 A>G	1	120299937	120299937	A	G	HMGCS2	c.975T>C	NM_005518.3	NP_005509.1:p.(Ser325=)	NC_000001.10:g.120299937A>G	(Likely) benign	1 lab	2607c94acc
13:39438643 FREM2 G>A	13	39438643	39438643	G	A	FREM2	c.7883G>A	NM_207361.5	NP_997244.4:p.(Arg2628Gln)	NC_000013.10:g.39438643G>A	VUS	1 lab	260844bd10
20:47991020 KCNB1 G>A	20	47991020	47991020	G	A	KCNB1	c.1077C>T	NM_004975.3	NP_004966.1:p.(Thr359=)	NC_000020.10:g.47991020G>A	(Likely) benign	1 lab	26094fd85c
9:2039872 SMARCA2 G>A	9	2039872	2039872	G	A	SMARCA2	c.762G>A	NM_003070.4	NP_003061.3:p.(Pro254=)	NC_000009.11:g.2039872G>A	(Likely) benign	1 lab	260b27191b
14:21861835 CHD8 T>C	14	21861835	21861835	T	C	CHD8	c.6119A>G	NM_001170629.1	NP_001164100.1:p.(Asp2040Gly)	NC_000014.8:g.21861835T>C	(Likely) benign	1 lab	260b598080
9:123220757 CDK5RAP2 A>G	9	123220757	123220757	A	G	CDK5RAP2	c.2346T>C	NM_018249.5	NP_060719.4:p.(Asn782=)	NC_000009.11:g.123220757A>G	(Likely) benign	1 lab	260b868423
7:73254802 METTL27 G>T	7	73254802	73254802	G	T	METTL27	c.330C>A	NM_152559.2	NP_689772.2:p.(Gly110=)	NC_000007.13:g.73254802G>T	(Likely) benign	1 lab	260d87fe62
X:19377660 PDHA1 G>T	X	19377660	19377660	G	T	PDHA1	c.1176G>T	NM_001173454.1	NP_001166925.1:p.(Thr392=)	NC_000023.10:g.19377660G>T	(Likely) benign	1 lab	2610c83193
11:36595643 RAG1 G>A	11	36595643	36595643	G	A	RAG1	c.789G>A	NM_000448.2	NP_000439.1:p.(Met263Ile)	NC_000011.9:g.36595643G>A	(Likely) benign	1 lab	2610e45f47
9:135786848 TSC1 GT>G	9	135786848	135786850	GT	G	TSC1	c.1020del	NM_000368.5	NP_000359.1:p.(Glu340AspfsTer16)	NC_000009.11:g.135786850del	(Likely) pathogenic	1 lab	26132065aa
3:186961284 MASP1 T>G	3	186961284	186961284	T	G	MASP1	c.1216A>C	NM_001879.5	NP_001870.3:p.(Asn406His)	NC_000003.11:g.186961284T>G	(Likely) benign	1 lab	2614fb20bc
11:65487883 RNASEH2C C>T	11	65487883	65487883	C	T	RNASEH2C	c.178G>A	NM_032193.3	NP_115569.2:p.(Glu60Lys)	NC_000011.9:g.65487883C>T	(Likely) benign	1 lab	2615678eb4
12:49488271 DHH G>A	12	49488271	49488271	G	A	DHH	c.25C>T	NM_021044.4	NP_066382.1:p.(Pro9Ser)	NC_000012.11:g.49488271G>A	(Likely) benign	1 lab	2616206c8c
2:20451452 PUM2 C>T	2	20451452	20451452	C	T	PUM2	c.3089G>A	NM_015317.3	NP_056132.1:p.(Arg1030His)	NC_000002.11:g.20451452C>T	VUS	1 lab	2616d9d5e7
15:56735859 MNS1 TCTC>T	15	56735859	56735865	TCTC	T	MNS1	c.877_879del	NM_018365.4	NP_060835.1:p.(Glu293del)	NC_000015.9:g.56735863_56735865del	VUS	1 lab	26178bad90
7:83032049 SEMA3E T>C	7	83032049	83032049	T	C	SEMA3E	c.1042A>G	NM_012431.3	NP_036563.1:p.(Ser348Gly)	NC_000007.13:g.83032049T>C	VUS	1 lab	e6f673c33b
16:88599861 ZFPM1 A>G	16	88599861	88599861	A	G	ZFPM1	c.1495A>G	NM_153813.3	NP_722520.2:p.(Arg499Gly)	NC_000016.9:g.88599861A>G	(Likely) benign	1 lab	2619029ddf
12:98928104 TMPO G>A	12	98928104	98928104	G	A	TMPO	c.2069G>A	NM_003276.2	NP_003267.1:p.(Arg690His)	NC_000012.11:g.98928104G>A	VUS	1 lab	2619c3e8a9
10:123324122 FGFR2 T>C	10	123324122	123324122	T	C	FGFR2	c.377-29A>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123324122T>C	(Likely) benign	1 lab	261a6bf686
X:18602374 CDKL5 A>G	X	18602374	18602374	A	G	CDKL5	c.464-9A>G	NM_001323289.1	NP_001310218.1:p.?	NC_000023.10:g.18602374A>G	(Likely) benign	1 lab	261b7652d5
X:47058637 UBA1 G>A	X	47058637	47058637	G	A	UBA1	c.206G>A	NM_003334.4	NP_003325.2:p.(Arg69Gln)	NC_000023.10:g.47058637G>A	(Likely) benign	1 lab	261e46b157
22:18912653 PRODH C>T	22	18912653	18912653	C	T	PRODH	c.578G>A	NM_016335.4	NP_057419.4:p.(Gly193Asp)	NC_000022.10:g.18912653C>T	VUS	1 lab	261f7422de
19:17007064 MISSING C>T	19	17007064	17007064	C	T	MISSING				NC_000019.9:g.17007064C>T	(Likely) benign	1 lab	261f9ea039
12:51080389 DIP2B C>A	12	51080389	51080389	C	A	DIP2B	c.1475C>A	NM_173602.3	NP_775873.2:p.(Ser492Tyr)	NC_000012.11:g.51080389C>A	(Likely) benign	1 lab	e6f8027120
19:5705851 LONP1 G>A	19	5705851	5705851	G	A	LONP1	c.1299C>T	NM_004793.3	NP_004784.2:p.(His433=)	NC_000019.9:g.5705851G>A	(Likely) benign	1 lab	26203fb63a
X:24580538 PCYT1B G>A	X	24580538	24580538	G	A	PCYT1B	c.982C>T	NM_004845.4	NP_004836.2:p.(Arg328Trp)	NC_000023.10:g.24580538G>A	VUS	1 lab	2620de7cd5
2:17942809 GEN1 A>G	2	17942809	17942809	A	G	GEN1	c.308A>G	NM_001130009.3	NP_001123481.3:p.(Gln103Arg)	NC_000002.11:g.17942809A>G	(Likely) benign	1 lab	2621709c49
16:2115561 TSC2 AAG>A	16	2115561	2115563	AAG	A	TSC2	c.1642_1643del	NM_000548.5	NP_000539.2:p.(Arg548GlyfsTer40)	NC_000016.9:g.2115562_2115563del	(Likely) pathogenic	1 lab	26224c7242
6:8041405 BLOC1S5 T>C	6	8041405	8041405	T	C	BLOC1S5	c.100A>G	NM_001199322.1	NP_001186251.1:p.(Met34Val)	NC_000006.11:g.8041405T>C	VUS	1 lab	2623d2dcdb
13:35733980 NBEA CTT>C	13	35733980	35733982	CTT	C	NBEA	c.3673_3674del	NM_001385012.1	NP_001371941.1:p.(Leu1225SerfsTer5)	NC_000013.10:g.35733981_35733982del	(Likely) pathogenic	1 lab	26244b8b4a
X:102004398 GPRASP3 T>A	X	102004398	102004398	T	A	GPRASP3	c.475T>A	NM_001142524.2	NP_001135996.1:p.(Cys159Ser)	NC_000023.10:g.102004398T>A	(Likely) benign	1 lab	26247d5c5b
15:89869867 POLG G>A	15	89869867	89869867	G	A	POLG	c.1688C>T	NM_002693.2	NP_002684.1:p.(Pro563Leu)	NC_000015.9:g.89869867G>A	(Likely) benign	1 lab	2624ed6200
2:73784376 ALMS1 G>C	2	73784376	73784376	G	C	ALMS1	c.10111G>C	NM_015120.4	NP_055935.4:p.(Asp3371His)	NC_000002.11:g.73784376G>C	VUS	1 lab	262537bb6e
12:89819060 POC1B T>C	12	89819060	89819060	T	C	POC1B	c.1210A>G	NM_172240.2	NP_758440.1:p.(Thr404Ala)	NC_000012.11:g.89819060T>C	(Likely) benign	1 lab	2625c048a8
1:24175217 FUCA1 C>T	1	24175217	24175217	C	T	FUCA1	c.1082G>A	NM_000147.4	NP_000138.2:p.(Trp361Ter)	NC_000001.10:g.24175217C>T	(Likely) pathogenic	1 lab	2627a3e5c1
13:103506172 ERCC5 G>A	13	103506172	103506172	G	A	ERCC5	c.330G>A	NM_000123.3	NP_000114.2:p.(Leu110=)	NC_000013.10:g.103506172G>A	(Likely) benign	1 lab	2627d14ef4
17:29548946 NF1 A>C	17	29548946	29548946	A	C	NF1	c.1720A>C	NM_000267.3	NP_000258.1:p.(Ser574Arg)	NC_000017.10:g.29548946A>C	(Likely) pathogenic	1 lab	262a6daace
19:46269001 SIX5 C>T	19	46269001	46269001	C	T	SIX5	c.1978G>A	NM_175875.4	NP_787071.2:p.(Ala660Thr)	NC_000019.9:g.46269001C>T	(Likely) benign	1 lab	262a93b38c
3:38620903 SCN5A AGAG>A	3	38620903	38620910	AGAG	A	SCN5A	c.3306_3308del	NM_000335.5	NP_000326.2:p.(Ser1103del)	NC_000003.11:g.38620908_38620910del	VUS	1 lab	262c01110d
8:48710894 PRKDC T>C	8	48710894	48710894	T	C	PRKDC	c.10362A>G	NM_006904.6	NP_008835.5:p.(Leu3454=)	NC_000008.10:g.48710894T>C	(Likely) benign	1 lab	262c9bfb06
11:6662545 DCHS1 G>A	11	6662545	6662545	G	A	DCHS1				NC_000011.9:g.6662545G>A	(Likely) benign	1 lab	262d5719f8
5:78251347 ARSB A>G	5	78251347	78251347	A	G	ARSB	c.691-22T>C	NM_000046.4	NP_000037.2:p.?	NC_000005.9:g.78251347A>G	(Likely) benign	1 lab	262d57d56a
20:44520547 CTSA C>T	20	44520547	44520547	C	T	CTSA	c.195-8C>T	NM_001127695.2	NP_001121167.1:p.?	NC_000020.10:g.44520547C>T	(Likely) benign	1 lab	262edc9c08
11:18313285 HPS5 T>C	11	18313285	18313285	T	C	HPS5	c.2144A>G	NM_181507.1	NP_852608.1:p.(Glu715Gly)	NC_000011.9:g.18313285T>C	VUS	1 lab	262fbb1899
15:91496753 UNC45A G>A	15	91496753	91496753	G	A	UNC45A	c.2597G>A	NM_001039675.1	NP_001034764.1:p.(Arg866Gln)	NC_000015.9:g.91496753G>A	VUS	1 lab	26309de6d0
8:10469109 RP1L1 C>T	8	10469109	10469109	C	T	RP1L1	c.2499G>A	NM_178857.5	NP_849188.4:p.(Pro833=)	NC_000008.10:g.10469109C>T	(Likely) benign	1 lab	26324a0d35
5:41176606 C6 TG>T	5	41176606	41176607	TG	T	C6	c.1138del	NM_000065.5	NP_000056.2:p.(Gln380SerfsTer7)	NC_000005.9:g.41176607del	(Likely) pathogenic	1 lab	2633260fb9
6:56471995 DST C>T	6	56471995	56471995	C	T	DST	c.5184+3230G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56471995C>T	(Likely) benign	1 lab	e704429861
12:112884113 PTPN11 A>G	12	112884113	112884113	A	G	PTPN11	c.48A>G	NM_002834.3	NP_002825.3:p.(Ala16=)	NC_000012.11:g.112884113A>G	(Likely) benign	1 lab	2634e9d8d7
11:8119372 TUB C>T	11	8119372	8119372	C	T	TUB	c.1162C>T	NM_003320.4	NP_003311.2:p.(Arg388Trp)	NC_000011.9:g.8119372C>T	VUS	1 lab	2635e9ea8e
7:92136394 PEX1 TGTGA>T	7	92136394	92136402	TGTGA	T	PEX1	c.1713_1716del	NM_000466.3	NP_000457.1:p.(His572AlafsTer11)	NC_000007.13:g.92136399_92136402del	(Likely) pathogenic	1 lab	2638af3a3e
8:126091025 WASHC5 G>A	8	126091025	126091025	G	A	WASHC5	c.666C>T	NM_014846.3	NP_055661.3:p.(Ile222=)	NC_000008.10:g.126091025G>A	(Likely) benign	1 lab	26393ef982
15:43896955 STRC G>C	15	43896955	43896955	G	C	STRC	c.4020C>G	NM_153700.2	NP_714544.1:p.(Ile1340Met)	NC_000015.9:g.43896955G>C	VUS	1 lab	2639ade064
1:976884 AGRN C>T	1	976884	976884	C	T	AGRN	c.664C>T	NM_001364727.1	NP_001351656.1:p.(Pro222Ser)	NC_000001.10:g.976884C>T	(Likely) benign	1 lab	2639dbccf5
X:154133103 F8 A>C	X	154133103	154133103	A	C	F8	c.5569T>G	NM_000132.3	NP_000123.1:p.(Phe1857Val)	NC_000023.10:g.154133103A>C	VUS	1 lab	263bdc07ba
1:225142748 DNAH14 A>G	1	225142748	225142748	A	G	DNAH14	c.165A>G	NM_001367479.1	NP_001354408.1:p.(Glu55=)	NC_000001.10:g.225142748A>G	(Likely) benign	1 lab	263c3a0351
6:157517382 ARID1B G>A	6	157517382	157517382	G	A	ARID1B	c.4066G>A	NM_001346813.1	NP_001333742.1:p.(Gly1356Arg)	NC_000006.11:g.157517382G>A	(Likely) benign	1 lab	263ec0de05
16:31424159 ITGAD C>G	16	31424159	31424159	C	G	ITGAD	c.1711C>G	NM_001318185.1	NP_001305114.1:p.(Arg571Gly)	NC_000016.9:g.31424159C>G	VUS	1 lab	263efd3cb4
16:72821960 ZFHX3 G>C	16	72821960	72821960	G	C	ZFHX3	c.10215C>G	NM_006885.3	NP_008816.3:p.(Pro3405=)	NC_000016.9:g.72821960G>C	(Likely) benign	1 lab	263f26313c
16:23080893 USP31 T>C	16	23080893	23080893	T	C	USP31	c.2533A>G	NM_020718.3	NP_065769.3:p.(Ser845Gly)	NC_000016.9:g.23080893T>C	VUS	1 lab	263fc3fb58
X:36163431 CFAP47 G>A	X	36163431	36163431	G	A	CFAP47	c.5631G>A	NM_001304548.1	NP_001291477.1:p.(Val1877=)	NC_000023.10:g.36163431G>A	(Likely) benign	1 lab	2642281eb6
14:105781325 PACS2 C>T	14	105781325	105781325	C	T	PACS2	c.70C>T	NM_001100913.2	NP_001094383.2:p.(Leu24=)	NC_000014.8:g.105781325C>T	(Likely) benign	1 lab	2643ce9839
3:195518248 MUC4 T>C	3	195518248	195518248	T	C	MUC4	c.203A>G	NM_018406.6	NP_060876.5:p.(Gln68Arg)	NC_000003.11:g.195518248T>C	(Likely) benign	1 lab	2644451227
21:15558324 LIPI A>G	21	15558324	15558324	A	G	LIPI	c.562T>C	NM_198996.3	NP_945347.2:p.(Phe188Leu)	NC_000021.8:g.15558324A>G	VUS	1 lab	264765fd49
9:139733719 RABL6 G>A	9	139733719	139733719	G	A	RABL6	c.1542G>A	NM_001173988.1	NP_001167459.1:p.(Thr514=)	NC_000009.11:g.139733719G>A	(Likely) benign	1 lab	2648e580ec
19:52222523 HAS1 C>A	19	52222523	52222523	C	A	HAS1	c.638G>T	NM_001523.3	NP_001514.2:p.(Gly213Val)	NC_000019.9:g.52222523C>A	VUS	1 lab	264a88adfc
X:153633349 DNASE1L1 G>A	X	153633349	153633349	G	A	DNASE1L1	c.211C>T	NM_006730.3	NP_006721.1:p.(Arg71Ter)	NC_000023.10:g.153633349G>A	VUS	1 lab	2650f846a9
15:74467758 ISLR G>A	15	74467758	74467758	G	A	ISLR	c.559G>A	NM_005545.4	NP_005536.1:p.(Gly187Ser)	NC_000015.9:g.74467758G>A	(Likely) benign	1 lab	26511f9897
X:64744455 LAS1L G>C	X	64744455	64744455	G	C	LAS1L	c.1082C>G	NM_031206.4	NP_112483.1:p.(Pro361Arg)	NC_000023.10:g.64744455G>C	(Likely) benign	1 lab	265323ba7b
9:91940428 SECISBP2 A>G	9	91940428	91940428	A	G	SECISBP2	c.65A>G	NM_001282690.1	NP_001269619.1:p.(Tyr22Cys)	NC_000009.11:g.91940428A>G	(Likely) benign	1 lab	2654226440
17:29665734 NF1 TG>T	17	29665734	29665735	TG	T	NF1	c.6833del	NM_001042492.3	NP_001035957.1:p.(Cys2278SerfsTer2)	NC_000017.10:g.29665735del	(Likely) pathogenic	1 lab	2654eeb956
11:72070006 CLPB G>A	11	72070006	72070006	G	A	CLPB	c.648C>T	NM_001258394.2	NP_001245323.1:p.(Arg216=)	NC_000011.9:g.72070006G>A	(Likely) benign	1 lab	2655b15755
17:44073955 MAPT C>A	17	44073955	44073955	C	A	MAPT	c.1752C>A	NM_001123066.3	NP_001116538.2:p.(Pro584=)	NC_000017.10:g.44073955C>A	(Likely) benign	1 lab	265853d5eb
2:219188132 PNKD C>T	2	219188132	219188132	C	T	PNKD	c.142C>T	NM_022572.4	NP_072094.1:p.(Gln48Ter)	NC_000002.11:g.219188132C>T	VUS	1 lab	e705e1ed6a
X:3028174 ARSF T>C	X	3028174	3028174	T	C	ARSF	c.1271T>C	NM_001201539.1	NP_001188468.1:p.(Ile424Thr)	NC_000023.10:g.3028174T>C	VUS	1 lab	265a9e7cd8
18:44683853 IER3IP1 T>C	18	44683853	44683853	T	C	IER3IP1	c.147A>G	NM_016097.4	NP_057181.1:p.(Lys49=)	NC_000018.9:g.44683853T>C	(Likely) benign	1 lab	265b4eefd0
19:10220597 PPAN A>G	19	10220597	10220597	A	G	PPAN	c.599A>G	NM_020230.6	NP_064615.3:p.(Lys200Arg)	NC_000019.9:g.10220597A>G	VUS	1 lab	265da10384
19:50730187 MYH14 G>A	19	50730187	50730187	G	A	MYH14	c.838G>A	NM_001145809.1	NP_001139281.1:p.(Val280Ile)	NC_000019.9:g.50730187G>A	(Likely) benign	1 lab	2660ab3bf5
14:105417270 AHNAK2 A>T	14	105417270	105417270	A	T	AHNAK2	c.4518T>A	NM_138420.3	NP_612429.2:p.(Ser1506=)	NC_000014.8:g.105417270A>T	(Likely) benign	1 lab	26617bbd22
7:100084684 NYAP1 G>A	7	100084684	100084684	G	A	NYAP1	c.309G>A	NM_173564.4	NP_775835.2:p.(Gly103=)	NC_000007.13:g.100084684G>A	(Likely) benign	1 lab	26623df8df
12:96371731 HAL C>T	12	96371731	96371731	C	T	HAL	c.1645G>A	NM_002108.3	NP_002099.1:p.(Val549Met)	NC_000012.11:g.96371731C>T	VUS	1 lab	26626e73ed
7:103202131 RELN A>C	7	103202131	103202131	A	C	RELN	c.5377T>G	NM_005045.3	NP_005036.2:p.(Tyr1793Asp)	NC_000007.13:g.103202131A>C	VUS	1 lab	26629e23ac
17:62026852 SCN4A C>T	17	62026852	62026852	C	T	SCN4A	c.2890G>A	NM_000334.4	NP_000325.4:p.(Val964Ile)	NC_000017.10:g.62026852C>T	VUS	1 lab	2664244c86
9:32633684 TAF1L G>A	9	32633684	32633684	G	A	TAF1L	c.1894C>T	NM_153809.2	NP_722516.1:p.(Arg632Trp)	NC_000009.11:g.32633684G>A	VUS	1 lab	26648f876c
9:117266703 WHRN AGGC>A	9	117266703	117266708	AGGC	A	WHRN	c.376_378del	NM_015404.4	NP_056219.3:p.(Ala126del)	NC_000009.11:g.117266706_117266708del	VUS	1 lab	2664c025ed
17:29667546 NF1 C>CT	17	29667546	29667550	C	CT	NF1	c.6886dup	NM_000267.3	NP_000258.1:p.(Trp2296LeufsTer10)	NC_000017.10:g.29667550dup	(Likely) pathogenic	1 lab	26661e971d
2:128386040 MYO7B G>A	2	128386040	128386040	G	A	MYO7B	c.4476G>A	NM_001080527.1	NP_001073996.1:p.(Val1492=)	NC_000002.11:g.128386040G>A	(Likely) benign	1 lab	266af62299
16:89351581 ANKRD11 T>A	16	89351581	89351581	T	A	ANKRD11	c.1369A>T	NM_001256182.1	NP_001243111.1:p.(Lys457Ter)	NC_000016.9:g.89351581T>A	(Likely) pathogenic	1 lab	266c0a267f
9:94812242 SPTLC1 A>G	9	94812242	94812242	A	G	SPTLC1	c.888T>C	NM_001281303.1	NP_001268232.1:p.(Asn296=)	NC_000009.11:g.94812242A>G	(Likely) benign	1 lab	266c131d43
15:31323186 TRPM1 G>A	15	31323186	31323186	G	A	TRPM1	c.3178C>T	NM_001252020.1	NP_001238949.1:p.(Leu1060Phe)	NC_000015.9:g.31323186G>A	VUS	1 lab	266c3d8732
17:56272390 EPX A>G	17	56272390	56272390	A	G	EPX	c.660A>G	NM_000502.6	NP_000493.1:p.(Arg220=)	NC_000017.10:g.56272390A>G	(Likely) benign	1 lab	e70620e934
6:160490994 IGF2R C>T	6	160490994	160490994	C	T	IGF2R	c.4347C>T	NM_000876.3	NP_000867.2:p.(Gly1449=)	NC_000006.11:g.160490994C>T	VUS	1 lab	266f53924a
9:133962853 LAMC3 C>T	9	133962853	133962853	C	T	LAMC3	c.4231-10C>T	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133962853C>T	(Likely) benign	1 lab	266fcd3123
X:47030560 RBM10 G>GGGAGGA	X	47030560	47030584	G	GGGAGGA	RBM10	c.549_554dup	NM_001204468.1	NP_001191397.1:p.(Glu183_Glu184dup)	NC_000023.10:g.47030579_47030584dup	VUS	1 lab	2671f3d3bf
9:79980387 VPS13A T>C	9	79980387	79980387	T	C	VPS13A	c.8223T>C	NM_033305.2	NP_150648.2:p.(Phe2741=)	NC_000009.11:g.79980387T>C	(Likely) benign	1 lab	26729171e5
2:145274909 ZEB2 C>G	2	145274909	145274909	C	G	ZEB2	c.9G>C	NM_014795.3	NP_055610.1:p.(Gln3His)	NC_000002.11:g.145274909C>G	(Likely) benign	1 lab	2672a9ca03
20:17474942 BFSP1 G>A	20	17474942	17474942	G	A	BFSP1	c.1775C>T	NM_001195.4	NP_001186.1:p.(Ala592Val)	NC_000020.10:g.17474942G>A	(Likely) benign	1 lab	26734b4ce3
12:995114 WNK1 A>G	12	995114	995114	A	G	WNK1	c.5924A>G	NM_001184985.1	NP_001171914.1:p.(Asn1975Ser)	NC_000012.11:g.995114A>G	(Likely) benign	1 lab	267381f1ec
5:149495355 PDGFRB G>A	5	149495355	149495355	G	A	PDGFRB	c.3292C>T	NM_002609.3	NP_002600.1:p.(Arg1098Trp)	NC_000005.9:g.149495355G>A	VUS	1 lab	2673e7ab59
6:157522582 ARID1B A>G	6	157522582	157522582	A	G	ARID1B	c.4974A>G	NM_001346813.1	NP_001333742.1:p.(Pro1658=)	NC_000006.11:g.157522582A>G	(Likely) benign	1 lab	26747e43f6
16:28620046 SULT1A1 C>T	16	28620046	28620046	C	T	SULT1A1	c.131G>A	NM_177534.2	NP_803878.1:p.(Ser44Asn)	NC_000016.9:g.28620046C>T	(Likely) benign	1 lab	2674903d0b
3:47045998 NBEAL2 G>A	3	47045998	47045998	G	A	NBEAL2	c.6212G>A	NM_015175.2	NP_055990.1:p.(Arg2071His)	NC_000003.11:g.47045998G>A	VUS	1 lab	267585a15b
X:123229263 STAG2 T>C	X	123229263	123229263	T	C	STAG2	c.3747T>C	NM_001042749.2	NP_001036214.1:p.(Pro1249=)	NC_000023.10:g.123229263T>C	(Likely) benign	1 lab	26766db7f7
X:153135538 L1CAM G>A	X	153135538	153135538	G	A	L1CAM	c.964C>T	NM_001278116.1	NP_001265045.1:p.(Arg322Trp)	NC_000023.10:g.153135538G>A	VUS	1 lab	2678da397a
1:214170089 PROX1 C>T	1	214170089	214170089	C	T	PROX1	c.211C>T	NM_001270616.2	NP_001257545.1:p.(Arg71Cys)	NC_000001.10:g.214170089C>T	VUS	1 lab	e707d39633
X:110653568 DCX CC>G	X	110653568	110653569	CC	G	DCX	c.58_59delinsC	NM_178153.2	NP_835366.1:p.(Gly20ProfsTer4)	NC_000023.10:g.110653568_110653569delinsG	(Likely) pathogenic	1 lab	267aa344be
X:34148139 FAM47A T>C	X	34148139	34148139	T	C	FAM47A	c.2257A>G	NM_203408.3	NP_981953.2:p.(Ile753Val)	NC_000023.10:g.34148139T>C	(Likely) benign	1 lab	267b41525d
7:100190594 FBXO24 C>T	7	100190594	100190594	C	T	FBXO24	c.747C>T	NM_033506.3	NP_277041.1:p.(Ile249=)	NC_000007.13:g.100190594C>T	(Likely) benign	1 lab	267b7fffb9
21:34018828 SYNJ1 G>C	21	34018828	34018828	G	C	SYNJ1	c.3239C>G	NM_203446.2	NP_982271.2:p.(Ser1080Cys)	NC_000021.8:g.34018828G>C	VUS	1 lab	267bbd6d3a
16:10032161 GRIN2A T>C	16	10032161	10032161	T	C	GRIN2A	c.662A>G	NM_001134407.3	NP_001127879.1:p.(Lys221Arg)	NC_000016.9:g.10032161T>C	(Likely) benign	1 lab	267bcab0bf
11:103069983 DYNC2H1 C>T	11	103069983	103069983	C	T	DYNC2H1	c.7866C>T	NM_001080463.1	NP_001073932.1:p.(Asn2622=)	NC_000011.9:g.103069983C>T	(Likely) benign	1 lab	267bea5b76
19:45873449 ERCC2 T>C	19	45873449	45873449	T	C	ERCC2	c.47A>G	NM_000400.3	NP_000391.1:p.(Tyr16Cys)	NC_000019.9:g.45873449T>C	VUS	1 lab	267c538076
11:6412786 SMPD1 G>T	11	6412786	6412786	G	T	SMPD1	c.491G>T	NM_000543.4	NP_000534.3:p.(Gly164Val)	NC_000011.9:g.6412786G>T	VUS	1 lab	267f962882
16:81979812 PLCG2 A>G	16	81979812	81979812	A	G	PLCG2	c.3514A>G	NM_002661.3	NP_002652.2:p.(Ser1172Gly)	NC_000016.9:g.81979812A>G	VUS	1 lab	267fb483de
11:66476403 SPTBN2 G>A	11	66476403	66476403	G	A	SPTBN2	c.1161C>T	NM_006946.3	NP_008877.1:p.(Arg387=)	NC_000011.9:g.66476403G>A	(Likely) benign	1 lab	267fccd8e7
15:82517515 EFL1 T>C	15	82517515	82517515	T	C	EFL1	c.1283A>G	NM_001322845.1	NP_001309774.1:p.(Asn428Ser)	NC_000015.9:g.82517515T>C	VUS	1 lab	26803af168
5:54456940 GPX8 GCAAT>G	5	54456940	54456946	GCAAT	G	GPX8	c.326_329del	NM_001008397.4	NP_001008398.2:p.(Asn109SerfsTer13)	NC_000005.9:g.54456943_54456946del	VUS	1 lab	268043393f
X:142121872 SPANXN4 CA>C	X	142121872	142121876	CA	C	SPANXN4	c.144del	NM_001009613.4	NP_001009613.1:p.(Lys48AsnfsTer5)	NC_000023.10:g.142121876del	VUS	1 lab	26808dff2e
14:105416235 AHNAK2 C>G	14	105416235	105416235	C	G	AHNAK2	c.5553G>C	NM_138420.3	NP_612429.2:p.(Pro1851=)	NC_000014.8:g.105416235C>G	(Likely) benign	1 lab	26810476dc
X:71886082 PHKA1 T>G	X	71886082	71886082	T	G	PHKA1	c.783A>C	NM_002637.3	NP_002628.2:p.(Ser261=)	NC_000023.10:g.71886082T>G	(Likely) benign	1 lab	26825b0216
16:70513576 FCSK T>A	16	70513576	70513576	T	A	FCSK	c.3248T>A	NM_145059.3	NP_659496.2:p.(Phe1083Tyr)	NC_000016.9:g.70513576T>A	(Likely) benign	1 lab	2685456bdb
15:51207697 AP4E1 A>G	15	51207697	51207697	A	G	AP4E1	c.275A>G	NM_007347.4	NP_031373.2:p.(Tyr92Cys)	NC_000015.9:g.51207697A>G	VUS	1 lab	2685679ab6
19:44131067 CADM4 G>T	19	44131067	44131067	G	T	CADM4	c.368C>A	NM_145296.2	NP_660339.1:p.(Ala123Asp)	NC_000019.9:g.44131067G>T	VUS	1 lab	2685f91ea4
1:94502877 ABCA4 G>A	1	94502877	94502877	G	A	ABCA4	c.3637C>T	NM_000350.2	NP_000341.2:p.(Leu1213Phe)	NC_000001.10:g.94502877G>A	VUS	1 lab	2686204a11
X:129270665 AIFM1 C>T	X	129270665	129270665	C	T	AIFM1	c.1117G>A	NM_004208.3	NP_004199.1:p.(Gly373Arg)	NC_000023.10:g.129270665C>T	(Likely) benign	1 lab	26884b2a97
X:70596796 TAF1 G>T	X	70596796	70596796	G	T	TAF1	c.533-4G>T	NM_001286074.1	NP_001273003.1:p.?	NC_000023.10:g.70596796G>T	(Likely) benign	1 lab	2688587329
10:123276834 FGFR2 T>A	10	123276834	123276834	T	A	FGFR2	c.1083A>T	NM_000141.4	NP_000132.3:p.(Pro361=)	NC_000010.10:g.123276834T>A	(Likely) pathogenic	1 lab	26887ef243
16:2152548 PKD1 G>A	16	2152548	2152548	G	A	PKD1	c.9035C>T	NM_001009944.2	NP_001009944.2:p.(Thr3012Met)	NC_000016.9:g.2152548G>A	VUS	1 lab	2688d9903e
15:101434154 ALDH1A3 C>T	15	101434154	101434154	C	T	ALDH1A3	c.538-5C>T	NM_000693.3	NP_000684.2:p.?	NC_000015.9:g.101434154C>T	VUS	1 lab	26897a0c46
15:86125227 AKAP13 C>A	15	86125227	86125227	C	A	AKAP13	c.3928C>A	NM_006738.5	NP_006729.4:p.(Pro1310Thr)	NC_000015.9:g.86125227C>A	(Likely) benign	1 lab	268a8a6346
1:181731703 MISSING T>C	1	181731703	181731703	T	C	MISSING				NC_000001.10:g.181731703T>C	(Likely) benign	1 lab	269912cd94
X:134988319 SAGE1 T>A	X	134988319	134988319	T	A	SAGE1	c.591T>A	NM_018666.2	NP_061136.2:p.(Asp197Glu)	NC_000023.10:g.134988319T>A	(Likely) benign	1 lab	268c5582d0
8:145697783 KIFC2 G>T	8	145697783	145697783	G	T	KIFC2	c.1647G>T	NM_145754.3	NP_665697.1:p.(Val549=)	NC_000008.10:g.145697783G>T	(Likely) benign	1 lab	268da31fd0
19:54631562 PRPF31 C>T	19	54631562	54631562	C	T	PRPF31	c.1060C>T	NM_015629.3	NP_056444.3:p.(Arg354Ter)	NC_000019.9:g.54631562C>T	(Likely) pathogenic	1 lab	268efb635f
16:53653041 RPGRIP1L C>T	16	53653041	53653041	C	T	RPGRIP1L	c.3512G>A	NM_015272.4	NP_056087.2:p.(Arg1171Gln)	NC_000016.9:g.53653041C>T	VUS	1 lab	268f4de0e6
1:178490010 TEX35 G>A	1	178490010	178490010	G	A	TEX35	c.543+1G>A	NM_032126.5	NP_115502.2:p.?	NC_000001.10:g.178490010G>A	VUS	1 lab	268fd27464
15:23891671 MAGEL2 G>A	15	23891671	23891671	G	A	MAGEL2	c.1219C>T	NM_019066.4	NP_061939.3:p.(Pro407Ser)	NC_000015.9:g.23891671G>A	VUS	1 lab	26916f2cff
X:51150074 EZHIP C>T	X	51150074	51150074	C	T	EZHIP	c.206C>T	NM_203407.3	NP_981952.1:p.(Ala69Val)	NC_000023.10:g.51150074C>T	(Likely) benign	1 lab	2691a01928
1:6007194 NPHP4 C>A	1	6007194	6007194	C	A	NPHP4	c.1089G>T	NM_015102.4	NP_055917.1:p.(Val363=)	NC_000001.10:g.6007194C>A	(Likely) benign	1 lab	26920db54d
X:153130950 L1CAM C>T	X	153130950	153130950	C	T	L1CAM	c.2553G>A	NM_001278116.1	NP_001265045.1:p.(Thr851=)	NC_000023.10:g.153130950C>T	(Likely) benign	1 lab	2694a55906
11:85445034 SYTL2 A>C	11	85445034	85445034	A	C	SYTL2	c.1335T>G	NM_032943.4	NP_116561.1:p.(Asp445Glu)	NC_000011.9:g.85445034A>C	(Likely) benign	1 lab	2694f80b0b
X:148044421 AFF2 G>T	X	148044421	148044421	G	T	AFF2	c.2867G>T	NM_002025.3	NP_002016.2:p.(Arg956Ile)	NC_000023.10:g.148044421G>T	VUS	1 lab	2694fd49ce
5:68470225 CCNB1 C>T	5	68470225	68470225	C	T	CCNB1	c.694C>T	NM_031966.4	NP_114172.1:p.(Arg232Trp)	NC_000005.9:g.68470225C>T	VUS	1 lab	269910c33d
21:34923901 SON T>C	21	34923901	34923901	T	C	SON	c.2364T>C	NM_138927.2	NP_620305.2:p.(Thr788=)	NC_000021.8:g.34923901T>C	(Likely) benign	1 lab	2699d5f5cd
9:43624740 SPATA31A6 G>T	9	43624740	43624740	G	T	SPATA31A6	c.3947C>A	NM_001145196.1	NP_001138668.1:p.(Pro1316His)	NC_000009.11:g.43624740G>T	(Likely) benign	1 lab	269b7d83db
1:213046066 FLVCR1 T>C	1	213046066	213046066	T	C	FLVCR1	c.930T>C	NM_014053.3	NP_054772.1:p.(Ala310=)	NC_000001.10:g.213046066T>C	(Likely) benign	1 lab	269b83f67a
19:13930290 ZSWIM4 G>A	19	13930290	13930290	G	A	ZSWIM4	c.1693G>A	NM_023072.2	NP_075560.2:p.(Ala565Thr)	NC_000019.9:g.13930290G>A	VUS	1 lab	269c981199
19:3979842 EEF2 C>T	19	3979842	3979842	C	T	EEF2	c.1569G>A	NM_001961.3	NP_001952.1:p.(Gly523=)	NC_000019.9:g.3979842C>T	(Likely) benign	1 lab	269cda83a6
2:223085997 PAX3 G>A	2	223085997	223085997	G	A	PAX3	c.902C>T	NM_181457.4	NP_852122.1:p.(Thr301Ile)	NC_000002.11:g.223085997G>A	VUS	1 lab	e70b564fd1
10:51580586 NCOA4 C>A	10	51580586	51580586	C	A	NCOA4	c.220C>A	NM_001145260.1	NP_001138732.1:p.(Arg74Ser)	NC_000010.10:g.51580586C>A	VUS	1 lab	26a0d1ade0
5:59189048 PDE4D G>A	5	59189048	59189048	G	A	PDE4D	c.402C>T	NM_001104631.2	NP_001098101.1:p.(Pro134=)	NC_000005.9:g.59189048G>A	(Likely) benign	1 lab	26a10bdb92
2:26739348 OTOF C>T	2	26739348	26739348	C	T	OTOF	c.447G>A	NM_194248.2	NP_919224.1:p.(Thr149=)	NC_000002.11:g.26739348C>T	(Likely) benign	1 lab	26a30790fe
14:64625398 SYNE2 A>G	14	64625398	64625398	A	G	SYNE2	c.15848A>G	NM_182914.2	NP_878918.2:p.(Asp5283Gly)	NC_000014.8:g.64625398A>G	VUS	1 lab	26a5dcf9ba
17:18070952 MYO15A C>T	17	18070952	18070952	C	T	MYO15A	c.9997C>T	NM_016239.3	NP_057323.3:p.(Arg3333Trp)	NC_000017.10:g.18070952C>T	VUS	1 lab	26a702a00b
13:110826765 COL4A1 G>A	13	110826765	110826765	G	A	COL4A1	c.3406+28C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110826765G>A	(Likely) benign	1 lab	26a793817a
19:41112332 LTBP4 C>T	19	41112332	41112332	C	T	LTBP4	c.1092C>T	NM_001042544.1	NP_001036009.1:p.(Gly364=)	NC_000019.9:g.41112332C>T	(Likely) benign	1 lab	26a8fac904
X:140983261 MAGEC3 G>A	X	140983261	140983261	G	A	MAGEC3	c.1049-10G>A	NM_138702.1	NP_619647.1:p.?	NC_000023.10:g.140983261G>A	(Likely) benign	1 lab	26a906ab86
7:143884882 ARHGEF35 C>T	7	143884882	143884882	C	T	ARHGEF35	c.595G>A	NM_001003702.2	NP_001003702.2:p.(Ala199Thr)	NC_000007.13:g.143884882C>T	VUS	1 lab	26a91cf5cb
11:43941543 ALKBH3 C>T	11	43941543	43941543	C	T	ALKBH3	c.844C>T	NM_139178.4	NP_631917.1:p.(Arg282Ter)	NC_000011.9:g.43941543C>T	VUS	1 lab	26a92b4e94
X:132161907 USP26 C>T	X	132161907	132161907	C	T	USP26	c.342G>A	NM_031907.1	NP_114113.1:p.(Lys114=)	NC_000023.10:g.132161907C>T	(Likely) benign	1 lab	26a955162f
X:601577 SHOX G>C	X	601577	601577	G	C	SHOX	c.508G>C	NM_000451.3	NP_000442.1:p.(Ala170Pro)	NC_000023.10:g.601577G>C	(Likely) pathogenic	1 lab	e70c4aedc8
7:105190856 RINT1 C>G	7	105190856	105190856	C	G	RINT1	c.1256C>G	NM_021930.5	NP_068749.3:p.(Pro419Arg)	NC_000007.13:g.105190856C>G	VUS	1 lab	26a9d7c31d
17:17698188 RAI1 G>A	17	17698188	17698188	G	A	RAI1	c.1926G>A	NM_030665.3	NP_109590.3:p.(Ser642=)	NC_000017.10:g.17698188G>A	(Likely) benign	1 lab	26ab0dd9bf
4:9217567 USP17L11 C>A	4	9217567	9217567	C	A	USP17L11	c.437C>A	NM_001256854.1	NP_001243783.1:p.(Ser146Ter)	NC_000004.11:g.9217567C>A	(Likely) benign	1 lab	26ab30795a
1:228506730 OBSCN C>T	1	228506730	228506730	C	T	OBSCN	c.17148C>T	NM_001271223.2	NP_001258152.2:p.(Ser5716=)	NC_000001.10:g.228506730C>T	(Likely) benign	1 lab	26ada32317
19:12924008 RNASEH2A A>C	19	12924008	12924008	A	C	RNASEH2A	c.749A>C	NM_006397.2	NP_006388.2:p.(Glu250Ala)	NC_000019.9:g.12924008A>C	(Likely) benign	1 lab	26ada4e392
9:35657888 RMRP C>G	9	35657888	35657888	C	G	RMRP	n.128G>C	NR_003051.3		NC_000009.11:g.35657888C>G	(Likely) benign	1 lab	26adabdbe2
5:76703216 PDE8B G>A	5	76703216	76703216	G	A	PDE8B	c.1299G>A	NM_003719.3	NP_003710.1:p.(Leu433=)	NC_000005.9:g.76703216G>A	(Likely) benign	1 lab	26af243845
21:44480585 CBS C>T	21	44480585	44480585	C	T	CBS	c.796G>A	NM_001321072.1	NP_001308001.1:p.(Val266Met)	NC_000021.8:g.44480585C>T	(Likely) pathogenic	1 lab	26b06a5900
8:19805796 LPL C>T	8	19805796	19805796	C	T	LPL	c.194C>T	NM_000237.3	NP_000228.1:p.(Ala65Val)	NC_000008.10:g.19805796C>T	(Likely) benign	1 lab	26b1d373c8
2:98986504 CNGA3 C>G	2	98986504	98986504	C	G	CNGA3	c.66C>G	NM_001298.2	NP_001289.1:p.(Asp22Glu)	NC_000002.11:g.98986504C>G	VUS	1 lab	26b37caafc
11:68201120 LRP5 G>A	11	68201120	68201120	G	A	LRP5	c.2071G>A	NM_001291902.1	NP_001278831.1:p.(Asp691Asn)	NC_000011.9:g.68201120G>A	VUS	1 lab	26b4808dcf
X:62875582 ARHGEF9 G>A	X	62875582	62875582	G	A	ARHGEF9	c.1092C>T	NM_015185.2	NP_056000.1:p.(Gly364=)	NC_000023.10:g.62875582G>A	(Likely) benign	1 lab	26b528d297
X:47424394 ARAF CCTT>C	X	47424394	47424401	CCTT	C	ARAF	c.319_321del	NM_001654.5	NP_001645.1:p.(Phe107del)	NC_000023.10:g.47424399_47424401del	VUS	1 lab	26b8e70333
16:57785627 KATNB1 C>T	16	57785627	57785627	C	T	KATNB1	c.507C>T	NM_005886.2	NP_005877.2:p.(His169=)	NC_000016.9:g.57785627C>T	(Likely) benign	1 lab	26b96312cd
5:176638489 NSD1 T>C	5	176638489	176638489	T	C	NSD1	c.3089T>C	NM_022455.4	NP_071900.2:p.(Leu1030Ser)	NC_000005.9:g.176638489T>C	VUS	1 lab	26b97a545e
17:39925888 JUP G>A	17	39925888	39925888	G	A	JUP	c.250C>T	NM_021991.2	NP_068831.1:p.(Arg84Trp)	NC_000017.10:g.39925888G>A	VUS	1 lab	26b9f7656e
X:47435578 SYN1 G>A	X	47435578	47435578	G	A	SYN1	c.1110C>T	NM_006950.3	NP_008881.2:p.(Cys370=)	NC_000023.10:g.47435578G>A	(Likely) benign	1 lab	26ba456685
17:76993649 CANT1 C>T	17	76993649	76993649	C	T	CANT1	c.56G>A	NM_138793.3	NP_620148.1:p.(Arg19Gln)	NC_000017.10:g.76993649C>T	VUS	1 lab	26bd6bccfc
X:152770767 BGN G>A	X	152770767	152770767	G	A	BGN	c.310G>A	NM_001711.6	NP_001702.1:p.(Glu104Lys)	NC_000023.10:g.152770767G>A	(Likely) benign	1 lab	e71083b9ab
6:130381279 L3MBTL3 C>T	6	130381279	130381279	C	T	L3MBTL3	c.858C>T	NM_032438.3	NP_115814.1:p.(Val286=)	NC_000006.11:g.130381279C>T	(Likely) benign	1 lab	26bf58045b
18:55221585 FECH C>A	18	55221585	55221585	C	A	FECH				NC_000018.9:g.55221585C>A	VUS	1 lab	26c00314d1
19:3924597 ATCAY G>A	19	3924597	3924597	G	A	ATCAY	c.*7G>A	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3924597G>A	(Likely) benign	1 lab	26d6e3c9ce
21:47627354 LSS A>G	21	47627354	47627354	A	G	LSS	c.1455T>C	NM_002340.6	NP_002331.3:p.(Asp485=)	NC_000021.8:g.47627354A>G	(Likely) benign	1 lab	26c25edf9d
X:70389411 NLGN3 C>T	X	70389411	70389411	C	T	NLGN3	c.2011C>T	NM_181303.1	NP_851820.1:p.(Arg671Trp)	NC_000023.10:g.70389411C>T	VUS	1 lab	26c3453b8a
15:63915096 HERC1 G>C	15	63915096	63915096	G	C	HERC1	c.13612-6C>G	NM_003922.3	NP_003913.3:p.?	NC_000015.9:g.63915096G>C	(Likely) benign	1 lab	26c3863b32
14:73659497 PSEN1 C>T	14	73659497	73659497	C	T	PSEN1	c.694C>T	NM_000021.3	NP_000012.1:p.(Leu232Phe)	NC_000014.8:g.73659497C>T	VUS	1 lab	26c55598e4
20:10644611 JAG1 G>A	20	10644611	10644611	G	A	JAG1	c.439C>T	NM_000214.3	NP_000205.1:p.(Gln147Ter)	NC_000020.10:g.10644611G>A	(Likely) pathogenic	1 lab	26c58404c3
9:135781406 TSC1 TGG>T	9	135781406	135781409	TGG	T	TSC1	c.1557_1558del	NM_000368.5	NP_000359.1:p.(His520LeufsTer14)	NC_000009.11:g.135781408_135781409del	(Likely) pathogenic	1 lab	26c6d9ac56
19:55666207 TNNI3 G>A	19	55666207	55666207	G	A	TNNI3	c.283-9C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55666207G>A	(Likely) benign	1 lab	26c6f518de
17:29554258 NF1 AG>A	17	29554258	29554259	AG	A	NF1	c.2275del	NM_001042492.3	NP_001035957.1:p.(Val759Ter)	NC_000017.10:g.29554259del	(Likely) pathogenic	1 lab	26c70d37f1
7:47854969 PKD1L1 G>A	7	47854969	47854969	G	A	PKD1L1	c.7052C>T	NM_138295.4	NP_612152.1:p.(Pro2351Leu)	NC_000007.13:g.47854969G>A	(Likely) benign	1 lab	26c739a79a
7:103276701 RELN G>A	7	103276701	103276701	G	A	RELN	c.2284C>T	NM_005045.4	NP_005036.2:p.(Leu762Phe)	NC_000007.13:g.103276701G>A	VUS	1 lab	e7119ea170
2:219855111 CRYBA2 A>G	2	219855111	219855111	A	G	CRYBA2	c.457T>C	NM_057093.2	NP_476434.1:p.(Tyr153His)	NC_000002.11:g.219855111A>G	VUS	1 lab	26ca9bcf02
9:75387454 TMC1 T>TCAATACG	9	75387454	75387456	T	TCAATACG	TMC1	c.868_869insAATACGC	NM_138691.2	NP_619636.2:p.(Leu290GlnfsTer15)	NC_000009.11:g.75387455_75387456insAATACGC	(Likely) pathogenic	1 lab	26cb4a726d
9:101904795 TGFBR1 G>A	9	101904795	101904795	G	A	TGFBR1	c.806-23G>A	NM_004612.3	NP_004603.1:p.?	NC_000009.11:g.101904795G>A	(Likely) benign	1 lab	26cb4ca4a7
9:35547809 RUSC2 C>A	9	35547809	35547809	C	A	RUSC2	c.1291C>A	NM_001135999.1	NP_001129471.1:p.(Pro431Thr)	NC_000009.11:g.35547809C>A	VUS	1 lab	26cbfd0e68
X:109695230 RTL9 T>C	X	109695230	109695230	T	C	RTL9	c.1385T>C	NM_020769.2	NP_065820.1:p.(Val462Ala)	NC_000023.10:g.109695230T>C	VUS	1 lab	26ce646f7f
10:17130330 CUBN G>C	10	17130330	17130330	G	C	CUBN	c.1780C>G	NM_001081.3	NP_001072.2:p.(Leu594Val)	NC_000010.10:g.17130330G>C	VUS	1 lab	26cf7af979
8:101717263 PABPC1 A>G	8	101717263	101717263	A	G	PABPC1	c.1709T>C	NM_002568.3	NP_002559.2:p.(Ile570Thr)	NC_000008.10:g.101717263A>G	VUS	1 lab	26cfc0333e
15:45554256 SLC28A2 A>G	15	45554256	45554256	A	G	SLC28A2	c.214A>G	NM_004212.4	NP_004203.2:p.(Thr72Ala)	NC_000015.9:g.45554256A>G	(Likely) benign	1 lab	26d172f12d
22:50598132 MOV10L1 G>A	22	50598132	50598132	G	A	MOV10L1	c.3242G>A	NM_018995.3	NP_061868.1:p.(Arg1081His)	NC_000022.10:g.50598132G>A	(Likely) benign	1 lab	26d18d934b
19:46270270 SIX5 G>C	19	46270270	46270270	G	C	SIX5	c.947C>G	NM_175875.4	NP_787071.2:p.(Pro316Arg)	NC_000019.9:g.46270270G>C	VUS	1 lab	26d1e5f03b
7:24756883 GSDME G>GT	7	24756883	24756884	G	GT	GSDME	c.686dup	NM_004403.2	NP_004394.1:p.(Asp229GlufsTer23)	NC_000007.13:g.24756884dup	VUS	1 lab	26d3c50977
16:77326976 ADAMTS18 G>A	16	77326976	77326976	G	A	ADAMTS18	c.2670C>T	NM_001326358.1	NP_001313287.1:p.(Ser890=)	NC_000016.9:g.77326976G>A	(Likely) benign	1 lab	26d54054de
6:1610884 FOXC1 G>C	6	1610884	1610884	G	C	FOXC1	c.204G>C	NM_001453.3	NP_001444.2:p.(Thr68=)	NC_000006.11:g.1610884G>C	(Likely) benign	1 lab	26d74c92fb
2:233388824 PRSS56 T>G	2	233388824	233388824	T	G	PRSS56	c.1262T>G	NM_001195129.1	NP_001182058.1:p.(Leu421Arg)	NC_000002.11:g.233388824T>G	VUS	1 lab	26d85596de
17:57758839 CLTC G>GGT	17	57758839	57758841	G	GGT	CLTC	c.3261+1_3261+2dup	NM_001288653.2	NP_001275582.1:p.?	NC_000017.10:g.57758840_57758841dup	VUS	1 lab	e7129f60bb
16:72132927 DHX38 G>A	16	72132927	72132927	G	A	DHX38	c.866G>A	NM_014003.3	NP_054722.2:p.(Arg289His)	NC_000016.9:g.72132927G>A	(Likely) benign	1 lab	26d90bfa3f
X:70352617 MED12 CCTCTT>C	X	70352617	70352679	CCTCTT	C	MED12	c.4416-20_4416-16del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352675_70352679del	(Likely) benign	1 lab	e714fca616
2:96954466 SNRNP200 C>T	2	96954466	96954466	C	T	SNRNP200	c.3193G>A	NM_014014.4	NP_054733.2:p.(Ala1065Thr)	NC_000002.11:g.96954466C>T	VUS	1 lab	26db31eb78
1:64644168 ROR1 G>A	1	64644168	64644168	G	A	ROR1	c.2444G>A	NM_005012.3	NP_005003.2:p.(Arg815Gln)	NC_000001.10:g.64644168G>A	VUS	1 lab	26dba2bd09
X:130407846 IGSF1 CCTT>C	X	130407846	130407852	CCTT	C	IGSF1	c.3932_3934del	NM_001555.5	NP_001546.2:p.(Glu1311del)	NC_000023.10:g.130407850_130407852del	VUS	1 lab	26dc9cac38
11:76873190 MYO7A C>T	11	76873190	76873190	C	T	MYO7A	c.1368C>T	NM_000260.3	NP_000251.3:p.(Phe456=)	NC_000011.9:g.76873190C>T	(Likely) benign	1 lab	26dd7925e9
X:153581543 FLNA C>A	X	153581543	153581543	C	A	FLNA	c.6052G>T	NM_001110556.2	NP_001104026.1:p.(Glu2018Ter)	NC_000023.10:g.153581543C>A	(Likely) pathogenic	1 lab	26e052d5e7
X:153128202 L1CAM A>G	X	153128202	153128202	A	G	L1CAM	c.3690T>C	NM_001278116.1	NP_001265045.1:p.(Ser1230=)	NC_000023.10:g.153128202A>G	(Likely) benign	1 lab	26e0fd3243
X:77150973 MAGT1 A>C	X	77150973	77150973	A	C	MAGT1	c.31T>G	NM_032121.5	NP_115497.4:p.(Phe11Val)	NC_000023.10:g.77150973A>C	VUS	1 lab	e71eb645d7
2:166850785 SCN1A G>A	2	166850785	166850785	G	A	SCN1A	c.4723C>T	NM_001202435.3	NP_001189364.1:p.(Arg1575Cys)	NC_000002.11:g.166850785G>A	(Likely) benign	1 lab	e718286773
X:38268249 OTC G>A	X	38268249	38268249	G	A	OTC	c.838G>A	NM_000531.5	NP_000522.3:p.(Ala280Thr)	NC_000023.10:g.38268249G>A	VUS	1 lab	26e2a54318
X:153688661 PLXNA3 C>T	X	153688661	153688661	C	T	PLXNA3	c.138C>T	NM_017514.4	NP_059984.3:p.(Phe46=)	NC_000023.10:g.153688661C>T	(Likely) benign	1 lab	26e5730972
X:40539266 MED14 C>T	X	40539266	40539266	C	T	MED14	c.2730G>A	NM_004229.3	NP_004220.2:p.(Ser910=)	NC_000023.10:g.40539266C>T	(Likely) benign	1 lab	26e5dde9ab
11:102094388 YAP1 G>T	11	102094388	102094388	G	T	YAP1	c.1080G>T	NM_001282101.1	NP_001269030.1:p.(Glu360Asp)	NC_000011.9:g.102094388G>T	VUS	1 lab	26e9939cdb
7:21939017 DNAH11 G>A	7	21939017	21939017	G	A	DNAH11				NC_000007.13:g.21939017G>A	(Likely) benign	1 lab	2796021a47
6:129714360 LAMA2 G>T	6	129714360	129714360	G	T	LAMA2	c.5405G>T	NM_000426.3	NP_000417.2:p.(Arg1802Leu)	NC_000006.11:g.129714360G>T	(Likely) benign	1 lab	26e9e03bf0
8:20112418 LZTS1 C>G	8	20112418	20112418	C	G	LZTS1	c.275G>C	NM_021020.4	NP_066300.1:p.(Gly92Ala)	NC_000008.10:g.20112418C>G	(Likely) benign	1 lab	26e9e62391
9:80336302 GNAQ A>G	9	80336302	80336302	A	G	GNAQ	c.1017T>C	NM_002072.4	NP_002063.2:p.(Phe339=)	NC_000009.11:g.80336302A>G	(Likely) benign	1 lab	26eb983b6c
6:49425739 MMUT G>C	6	49425739	49425739	G	C	MMUT	c.418C>G	NM_000255.4	NP_000246.2:p.(Leu140Val)	NC_000006.11:g.49425739G>C	(Likely) pathogenic	1 lab	e7192c60ac
17:7749762 KDM6B C>G	17	7749762	7749762	C	G	KDM6B	c.501C>G	NM_001080424.2	NP_001073893.1:p.(Ala167=)	NC_000017.10:g.7749762C>G	(Likely) benign	1 lab	26ee8e397e
X:153688601 PLXNA3 C>T	X	153688601	153688601	C	T	PLXNA3	c.78C>T	NM_017514.4	NP_059984.3:p.(Phe26=)	NC_000023.10:g.153688601C>T	(Likely) benign	1 lab	26eeec1136
11:111908159 DLAT A>G	11	111908159	111908159	A	G	DLAT	c.950A>G	NM_001931.4	NP_001922.2:p.(Gln317Arg)	NC_000011.9:g.111908159A>G	(Likely) benign	1 lab	26efa0987c
16:68857382 CDH1 C>A	16	68857382	68857382	C	A	CDH1	c.2017C>A	NM_004360.5	NP_004351.1:p.(Gln673Lys)	NC_000016.9:g.68857382C>A	VUS	1 lab	e71fa59d90
22:50662825 TUBGCP6 G>A	22	50662825	50662825	G	A	TUBGCP6	c.2090C>T	NM_020461.3	NP_065194.2:p.(Ala697Val)	NC_000022.10:g.50662825G>A	VUS	1 lab	26effe1e45
6:131925331 MED23 G>C	6	131925331	131925331	G	C	MED23	c.1743C>G	NM_004830.4	NP_004821.2:p.(Ile581Met)	NC_000006.11:g.131925331G>C	VUS	1 lab	26f0b6af7e
5:176721940 NSD1 AG>A	5	176721940	176721942	AG	A	NSD1	c.7573del	NM_022455.5	NP_071900.2:p.(Asp2525ThrfsTer53)	NC_000005.9:g.176721942del	(Likely) pathogenic	1 lab	26f0d9801b
11:5248250 HBB A>G	11	5248250	5248250	A	G	HBB	c.2T>C	NM_000518.5	NP_000509.1:p.(Met1?)	NC_000011.9:g.5248250A>G	(Likely) pathogenic	1 lab	e720819f32
X:119004731 RNF113A G>A	X	119004731	119004731	G	A	RNF113A	c.846C>T	NM_006978.2	NP_008909.1:p.(Cys282=)	NC_000023.10:g.119004731G>A	(Likely) benign	1 lab	26f30584e2
17:41108574 PTGES3L-AARSD1 C>T	17	41108574	41108574	C	T	PTGES3L-AARSD1	c.915G>A	NM_001136042.2	NP_001129514.2:p.(Glu305=)	NC_000017.10:g.41108574C>T	(Likely) benign	1 lab	26f459450f
11:6630597 ILK CAAGG>C	11	6630597	6630604	CAAGG	C	ILK	c.690_693del	NM_004517.4	NP_004508.1:p.(Lys231AlafsTer23)	NC_000011.9:g.6630601_6630604del	VUS	1 lab	26f5f173f5
18:7044774 LAMA1 T>G	18	7044774	7044774	T	G	LAMA1	c.923A>C	NM_005559.3	NP_005550.2:p.(Tyr308Ser)	NC_000018.9:g.7044774T>G	VUS	1 lab	26f71a5ec9
12:40114729 REDIC1 C>A	12	40114729	40114729	C	A	REDIC1	c.1635C>A	NM_001031748.4	NP_001026918.2:p.(Asp545Glu)	NC_000012.11:g.40114729C>A	(Likely) benign	1 lab	26f73cef7f
10:61802476 ANK3 C>T	10	61802476	61802476	C	T	ANK3	c.13107G>A	NM_020987.5	NP_066267.2:p.(Arg4369=)	NC_000010.10:g.61802476C>T	(Likely) benign	1 lab	26f7ae5fba
X:39933860 BCOR G>A	X	39933860	39933860	G	A	BCOR	c.739C>T	NM_001123385.1	NP_001116857.1:p.(Leu247=)	NC_000023.10:g.39933860G>A	(Likely) benign	1 lab	26f7f47fb6
9:100194441 TDRD7 A>G	9	100194441	100194441	A	G	TDRD7	c.484A>G	NM_014290.2	NP_055105.2:p.(Met162Val)	NC_000009.11:g.100194441A>G	(Likely) benign	1 lab	26f8d0c001
1:235940544 LYST A>ATCACTGG	1	235940544	235940552	A	ATCACTGG	LYST	c.5272_5278dup	NM_001301365.1	NP_001288294.1:p.(Ile1760ThrfsTer4)	NC_000001.10:g.235940546_235940552dup	(Likely) pathogenic	1 lab	26f91b99fa
X:148564365 IDS A>G	X	148564365	148564365	A	G	IDS	c.1565T>C	NM_000202.7	NP_000193.1:p.(Leu522Pro)	NC_000023.10:g.148564365A>G	(Likely) pathogenic	1 lab	26fb88db9f
22:30032810 NF2 T>C	22	30032810	30032810	T	C	NF2	c.185T>C	NM_000268.3	NP_000259.1:p.(Phe62Ser)	NC_000022.10:g.30032810T>C	VUS	1 lab	26fb98d6a3
14:65261194 SPTB C>T	14	65261194	65261194	C	T	SPTB	c.1786G>A	NM_001024858.3	NP_001020029.1:p.(Glu596Lys)	NC_000014.8:g.65261194C>T	(Likely) benign	1 lab	26fbc9b5ac
21:19701477 TMPRSS15 C>T	21	19701477	19701477	C	T	TMPRSS15	c.1780+9G>A	NM_002772.2	NP_002763.2:p.?	NC_000021.8:g.19701477C>T	(Likely) benign	1 lab	26fce9a7f2
19:53854725 ZNF845 C>T	19	53854725	53854725	C	T	ZNF845	c.797C>T	NM_001321522.1	NP_001308451.1:p.(Thr266Ile)	NC_000019.9:g.53854725C>T	(Likely) benign	1 lab	26fdd8f6cd
9:71869200 TJP2 C>A	9	71869200	71869200	C	A	TJP2	c.3483C>A	NM_004817.4	NP_004808.2:p.(Ala1161=)	NC_000009.11:g.71869200C>A	(Likely) benign	1 lab	26fe68cf1e
11:17656452 OTOG C>G	11	17656452	17656452	C	G	OTOG	c.7578C>G	NM_001277269.1	NP_001264198.1:p.(Leu2526=)	NC_000011.9:g.17656452C>G	(Likely) benign	1 lab	26ff5d158c
5:137520280 KIF20A C>T	5	137520280	137520280	C	T	KIF20A	c.1598C>T	NM_005733.3	NP_005724.1:p.(Pro533Leu)	NC_000005.9:g.137520280C>T	VUS	1 lab	2700749f88
7:103131211 RELN G>T	7	103131211	103131211	G	T	RELN	c.9509C>A	NM_173054.2	NP_774959.1:p.(Ser3170Tyr)	NC_000007.13:g.103131211G>T	VUS	1 lab	2700c033d0
15:64693014 TRIP4 A>C	15	64693014	64693014	A	C	TRIP4	c.1A>C	NM_001321924.1	NP_001308853.1:p.(Met1?)	NC_000015.9:g.64693014A>C	(Likely) pathogenic	1 lab	2701857199
2:73613164 ALMS1 C>T	2	73613164	73613164	C	T	ALMS1	c.171C>T	NM_015120.4	NP_055935.4:p.(Ser57=)	NC_000002.11:g.73613164C>T	(Likely) benign	1 lab	2702869e66
21:43809080 TMPRSS3 C>T	21	43809080	43809080	C	T	TMPRSS3	c.280G>A	NM_024022.2	NP_076927.1:p.(Gly94Arg)	NC_000021.8:g.43809080C>T	(Likely) pathogenic	1 lab	2705feb933
10:102770578 PDZD7 C>T	10	102770578	102770578	C	T	PDZD7	c.2068G>A	NM_001195263.1	NP_001182192.1:p.(Glu690Lys)	NC_000010.10:g.102770578C>T	(Likely) benign	1 lab	2706b28ac0
1:152287794 FLG C>G	1	152287794	152287794	C	G	FLG	c.138+1G>C	NM_002016.1	NP_002007.1:p.?	NC_000001.10:g.152287794C>G	(Likely) pathogenic	1 lab	2707c5056b
6:7586000 DSP C>T	6	7586000	7586000	C	T	DSP	c.8505C>T	NM_004415.2	NP_004406.2:p.(Ser2835=)	NC_000006.11:g.7586000C>T	(Likely) benign	1 lab	2707dac222
14:62207272 HIF1A A>G	14	62207272	62207272	A	G	HIF1A	c.1586A>G	NM_001530.3	NP_001521.1:p.(Asn529Ser)	NC_000014.8:g.62207272A>G	VUS	1 lab	27080f8125
15:49048610 CEP152 G>C	15	49048610	49048610	G	C	CEP152	c.2835C>G	NM_001194998.1	NP_001181927.1:p.(Val945=)	NC_000015.9:g.49048610G>C	(Likely) benign	1 lab	2708ad620f
17:1637074 WDR81 A>G	17	1637074	1637074	A	G	WDR81	c.4743A>G	NM_001163809.2	NP_001157281.1:p.(Pro1581=)	NC_000017.10:g.1637074A>G	(Likely) benign	1 lab	e721aa514e
17:7918352 GUCY2D T>C	17	7918352	7918352	T	C	GUCY2D	c.2752T>C	NM_000180.3	NP_000171.1:p.(Ser918Pro)	NC_000017.10:g.7918352T>C	VUS	1 lab	2709716df2
7:769437 DNAAF5 G>A	7	769437	769437	G	A	DNAAF5	c.733G>A	NM_017802.4	NP_060272.3:p.(Asp245Asn)	NC_000007.13:g.769437G>A	VUS	1 lab	e72258fad7
15:90188376 KIF7 G>T	15	90188376	90188376	G	T	KIF7	c.2059C>A	NM_198525.2	NP_940927.2:p.(Arg687=)	NC_000015.9:g.90188376G>T	(Likely) benign	1 lab	270aba8bb5
2:179439383 TTN C>A	2	179439383	179439383	C	A	TTN	c.63772G>T	NM_133378.4	NP_596869.4:p.(Val21258Phe)	NC_000002.11:g.179439383C>A	VUS	1 lab	e727ce4835
6:33399934 SYNGAP1 C>T	6	33399934	33399934	C	T	SYNGAP1	c.296-4C>T	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33399934C>T	(Likely) benign	1 lab	e731fee85c
17:29665751 NF1 CACTT>C	17	29665751	29665757	CACTT	C	NF1	c.6852_6855del	NM_001042492.3	NP_001035957.1:p.(Tyr2285ThrfsTer5)	NC_000017.10:g.29665754_29665757del	(Likely) pathogenic	1 lab	270bf54fc5
X:124456074 TEX13C G>A	X	124456074	124456074	G	A	TEX13C	c.2106G>A	NM_001195272.2	NP_001182201.1:p.(Met702Ile)	NC_000023.10:g.124456074G>A	VUS	1 lab	270d971514
10:99498234 ZFYVE27 G>A	10	99498234	99498234	G	A	ZFYVE27	c.-1G>A	NM_144588.7	NP_653189.3:p.?	NC_000010.10:g.99498234G>A	(Likely) benign	1 lab	e814f3c7b8
2:96949097 SNRNP200 G>A	2	96949097	96949097	G	A	SNRNP200	c.4764-7C>T	NM_014014.4	NP_054733.2:p.?	NC_000002.11:g.96949097G>A	(Likely) benign	1 lab	270f91609f
5:70819926 BDP1 C>T	5	70819926	70819926	C	T	BDP1	c.5548C>T	NM_018429.2	NP_060899.2:p.(Arg1850Trp)	NC_000005.9:g.70819926C>T	VUS	1 lab	271045245b
1:235973696 LYST C>T	1	235973696	235973696	C	T	LYST	c.422G>A	NM_001301365.1	NP_001288294.1:p.(Arg141Gln)	NC_000001.10:g.235973696C>T	VUS	1 lab	2710fe2254
2:27604483 PPM1G T>C	2	27604483	27604483	T	C	PPM1G	c.1624A>G	NM_177983.3	NP_817092.1:p.(Lys542Glu)	NC_000002.11:g.27604483T>C	(Likely) benign	1 lab	27119576fb
16:2136377 TSC2 C>T	16	2136377	2136377	C	T	TSC2	c.4846C>T	NM_000548.3	NP_000539.2:p.(Gln1616Ter)	NC_000016.9:g.2136377C>T	(Likely) pathogenic	1 lab	2712f52c0f
13:43148653 TNFSF11 G>A	13	43148653	43148653	G	A	TNFSF11	c.214G>A	NM_003701.4	NP_003692.1:p.(Ala72Thr)	NC_000013.10:g.43148653G>A	VUS	1 lab	27134be4c0
22:19171098 CLTCL1 C>T	22	19171098	19171098	C	T	CLTCL1	c.4632G>A	NM_007098.3	NP_009029.3:p.(Ser1544=)	NC_000022.10:g.19171098C>T	(Likely) benign	1 lab	27134ff337
X:99920596 SRPX2 C>T	X	99920596	99920596	C	T	SRPX2	c.723C>T	NM_014467.2	NP_055282.1:p.(Tyr241=)	NC_000023.10:g.99920596C>T	(Likely) benign	1 lab	2714084eea
13:101736103 NALCN C>A	13	101736103	101736103	C	A	NALCN	c.3542G>T	NM_052867.4	NP_443099.1:p.(Arg1181Leu)	NC_000013.10:g.101736103C>A	(Likely) pathogenic	1 lab	e734329c7f
17:29653262 NF1 T>G	17	29653262	29653262	T	G	NF1	c.5197T>G	NM_000267.3	NP_000258.1:p.(Ser1733Ala)	NC_000017.10:g.29653262T>G	VUS	1 lab	2718cbab9c
2:148701099 ORC4 GA>G	2	148701099	148701114	GA	G	ORC4	c.763-9del	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701114del	(Likely) benign	1 lab	2719404c77
11:26619940 ANO3 GAGA>G	11	26619940	26619945	GAGA	G	ANO3	c.1479_1481del	NM_031418.4	NP_113606.2:p.(Arg494del)	NC_000011.9:g.26619943_26619945del	VUS	1 lab	e7353cf360
2:179465803 TTN G>A	2	179465803	179465803	G	A	TTN	c.55828C>T	NM_001267550.1	NP_001254479.1:p.(Pro18610Ser)	NC_000002.11:g.179465803G>A	VUS	1 lab	271bd1fdc0
3:4741587 ITPR1 T>G	3	4741587	4741587	T	G	ITPR1	c.4471T>G	NM_001099952.2	NP_001093422.2:p.(Phe1491Val)	NC_000003.11:g.4741587T>G	VUS	1 lab	271c4c6b47
11:26620419 ANO3 C>G	11	26620419	26620419	C	G	ANO3	c.1728C>G	NM_001313726.1	NP_001300655.1:p.(Pro576=)	NC_000011.9:g.26620419C>G	(Likely) benign	1 lab	271c62a2b7
8:41839433 KAT6A A>G	8	41839433	41839433	A	G	KAT6A	c.749T>C	NM_006766.5	NP_006757.2:p.(Val250Ala)	NC_000008.10:g.41839433A>G	VUS	1 lab	e73675cdac
X:134993971 SAGE1 T>A	X	134993971	134993971	T	A	SAGE1	c.2380T>A	NM_018666.2	NP_061136.2:p.(Ser794Thr)	NC_000023.10:g.134993971T>A	(Likely) benign	1 lab	271f392cd0
9:98270646 PTCH1 TGCC>T	9	98270646	98270669	TGCC	T	PTCH1	c.-6_-4del	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98270667_98270669del	(Likely) benign	1 lab	e738d9638a
X:55650836 FOXR2 C>T	X	55650836	55650836	C	T	FOXR2	c.692C>T	NM_198451.3	NP_940853.1:p.(Thr231Ile)	NC_000023.10:g.55650836C>T	VUS	1 lab	272160e93d
19:4446564 UBXN6 G>T	19	4446564	4446564	G	T	UBXN6	c.853C>A	NM_025241.3	NP_079517.1:p.(Gln285Lys)	NC_000019.9:g.4446564G>T	(Likely) benign	1 lab	27245da802
9:14747274 FREM1 G>C	9	14747274	14747274	G	C	FREM1	c.5997C>G	NM_144966.5	NP_659403.4:p.(His1999Gln)	NC_000009.11:g.14747274G>C	VUS	1 lab	2726eb91c7
9:2643847 VLDLR C>T	9	2643847	2643847	C	T	VLDLR	c.954C>T	NM_003383.4	NP_003374.3:p.(Cys318=)	NC_000009.11:g.2643847C>T	(Likely) benign	1 lab	2727acddbd
6:135787511 AHI1 G>T	6	135787511	135787511	G	T	AHI1	c.190C>A	NM_001134831.1	NP_001128303.1:p.(Pro64Thr)	NC_000006.11:g.135787511G>T	VUS	1 lab	2728745850
X:153208362 RENBP C>G	X	153208362	153208362	C	G	RENBP	c.632G>C	NM_002910.5	NP_002901.2:p.(Gly211Ala)	NC_000023.10:g.153208362C>G	(Likely) benign	1 lab	272974c1b8
6:152770736 SYNE1 G>C	6	152770736	152770736	G	C	SYNE1	c.3436C>G	NM_182961.3	NP_892006.3:p.(Gln1146Glu)	NC_000006.11:g.152770736G>C	(Likely) benign	1 lab	27299d3fbb
4:183694720 TENM3 T>C	4	183694720	183694720	T	C	TENM3	c.4988T>C	NM_001080477.3	NP_001073946.1:p.(Ile1663Thr)	NC_000004.11:g.183694720T>C	(Likely) benign	1 lab	272ad08405
13:32972589 BRCA2 GA>G	13	32972589	32972595	GA	G	BRCA2	c.9945del	NM_000059.4	NP_000050.3:p.(Glu3316AsnfsTer2)	NC_000013.10:g.32972595del	VUS	1 lab	272b7a37bd
16:2134477 TSC2 ACAGT>A	16	2134477	2134484	ACAGT	A	TSC2	c.4258_4261del	NM_000548.5	NP_000539.2:p.(Ser1420GlyfsTer55)	NC_000016.9:g.2134481_2134484del	(Likely) pathogenic	1 lab	272c1b77c6
X:153595246 FLNA G>C	X	153595246	153595246	G	C	FLNA	c.869-28C>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153595246G>C	(Likely) benign	1 lab	272d10fb5f
5:89954001 ADGRV1 G>A	5	89954001	89954001	G	A	ADGRV1	c.4658G>A	NM_032119.4	NP_115495.3:p.(Arg1553His)	NC_000005.9:g.89954001G>A	VUS	1 lab	272d1c337b
X:16685827 CTPS2 G>T	X	16685827	16685827	G	T	CTPS2	c.1210C>A	NM_001144002.1	NP_001137474.1:p.(Leu404Ile)	NC_000023.10:g.16685827G>T	(Likely) benign	1 lab	272ddf45f7
4:25665967 SLC34A2 G>C	4	25665967	25665967	G	C	SLC34A2	c.376+15G>C	NM_001177999.1	NP_001171470.1:p.?	NC_000004.11:g.25665967G>C	(Likely) benign	1 lab	272e219798
17:40767014 TUBG1 G>A	17	40767014	40767014	G	A	TUBG1	c.1311G>A	NM_001070.4	NP_001061.2:p.(Ala437=)	NC_000017.10:g.40767014G>A	(Likely) benign	1 lab	272f167990
X:152968380 BCAP31 C>T	X	152968380	152968380	C	T	BCAP31	c.802+10G>A	NM_001139457.2	NP_001132929.1:p.?	NC_000023.10:g.152968380C>T	(Likely) benign	1 lab	273078496d
2:97464862 CNNM4 G>A	2	97464862	97464862	G	A	CNNM4	c.1750G>A	NM_020184.3	NP_064569.3:p.(Val584Ile)	NC_000002.11:g.97464862G>A	VUS	1 lab	273139cc92
2:47388947 CALM2 G>C	2	47388947	47388947	G	C	CALM2	c.336C>G	NM_001743.6	NP_001734.1:p.(Asn112Lys)	NC_000002.11:g.47388947G>C	VUS	1 lab	e73bcd16a9
21:35897521 RCAN1 CT>C	21	35897521	35897522	CT	C	RCAN1	c.253-1514del	NM_004414.7	NP_004405.3:p.?	NC_000021.8:g.35897522del	VUS	1 lab	273598fe18
2:179658225 TTN A>T	2	179658225	179658225	A	T	TTN	c.1442T>A	NM_001267550.1	NP_001254479.1:p.(Val481Glu)	NC_000002.11:g.179658225A>T	VUS	1 lab	2735e91a9a
1:156915909 ARHGEF11 G>A	1	156915909	156915909	G	A	ARHGEF11	c.2740C>T	NM_198236.2	NP_937879.1:p.(Leu914Phe)	NC_000001.10:g.156915909G>A	VUS	1 lab	2735f4df2e
12:56631030 SLC39A5 T>C	12	56631030	56631030	T	C	SLC39A5	c.1385T>C	NM_173596.2	NP_775867.2:p.(Leu462Pro)	NC_000012.11:g.56631030T>C	VUS	1 lab	2736649fc7
X:38129055 RPGR T>C	X	38129055	38129055	T	C	RPGR	c.2272A>G	NM_000328.2	NP_000319.1:p.(Asn758Asp)	NC_000023.10:g.38129055T>C	VUS	1 lab	2737a4f63c
10:12129576 DHTKD1 C>T	10	12129576	12129576	C	T	DHTKD1	c.565C>T	NM_018706.6	NP_061176.3:p.(Arg189Ter)	NC_000010.10:g.12129576C>T	(Likely) pathogenic	1 lab	27386d37f8
17:73956445 ACOX1 C>T	17	73956445	73956445	C	T	ACOX1	c.167G>A	NM_001185039.1	NP_001171968.1:p.(Arg56Gln)	NC_000017.10:g.73956445C>T	(Likely) benign	1 lab	2739bce74d
5:37169426 CPLANE1 G>A	5	37169426	37169426	G	A	CPLANE1	c.6700C>T	NM_023073.3	NP_075561.3:p.(Gln2234Ter)	NC_000005.9:g.37169426G>A	(Likely) pathogenic	1 lab	2739f799a9
X:66942827 AR G>A	X	66942827	66942827	G	A	AR	c.2607+1G>A	NM_000044.4	NP_000035.2:p.?	NC_000023.10:g.66942827G>A	(Likely) pathogenic	1 lab	273dfd07c5
10:17089460 CUBN G>A	10	17089460	17089460	G	A	CUBN	c.3282C>T	NM_001081.3	NP_001072.2:p.(Ser1094=)	NC_000010.10:g.17089460G>A	(Likely) benign	1 lab	273eed794b
17:17122362 FLCN C>G	17	17122362	17122362	C	G	FLCN	c.1033G>C	NM_001353230.1	NP_001340159.1:p.(Val345Leu)	NC_000017.10:g.17122362C>G	(Likely) benign	1 lab	273fbe322b
13:99947493 GPR183 T>C	13	99947493	99947493	T	C	GPR183	c.907A>G	NM_004951.5	NP_004942.1:p.(Met303Val)	NC_000013.10:g.99947493T>C	VUS	1 lab	2740f6e43f
22:19210216 CLTCL1 G>C	22	19210216	19210216	G	C	CLTCL1	c.2409C>G	NM_007098.3	NP_009029.3:p.(Tyr803Ter)	NC_000022.10:g.19210216G>C	VUS	1 lab	27436568d6
20:62194912 HELZ2 G>A	20	62194912	62194912	G	A	HELZ2	c.5263C>T	NM_001037335.2	NP_001032412.2:p.(Arg1755Trp)	NC_000020.10:g.62194912G>A	VUS	1 lab	274390fb4d
1:181767498 MISSING G>A	1	181767498	181767498	G	A	MISSING				NC_000001.10:g.181767498G>A	VUS	1 lab	274466c846
2:196753009 DNAH7 C>T	2	196753009	196753009	C	T	DNAH7	c.5379G>A	NM_018897.3	NP_061720.2:p.(Ser1793=)	NC_000002.11:g.196753009C>T	(Likely) benign	1 lab	274530249d
16:5121910 ALG1 G>A	16	5121910	5121910	G	A	ALG1	c.60G>A	NM_019109.4	NP_061982.3:p.(Leu20=)	NC_000016.9:g.5121910G>A	(Likely) benign	1 lab	27454930dc
1:181701799 MISSING T>A	1	181701799	181701799	T	A	MISSING				NC_000001.10:g.181701799T>A	(Likely) benign	1 lab	274ac28270
16:77331235 ADAMTS18 T>C	16	77331235	77331235	T	C	ADAMTS18	c.2236A>G	NM_001326358.1	NP_001313287.1:p.(Lys746Glu)	NC_000016.9:g.77331235T>C	VUS	1 lab	274b0c1ff6
14:74951297 NPC2 G>GA	14	74951297	74951304	G	GA	NPC2	c.191-8dup	NM_001363688.1	NP_001350617.1:p.?	NC_000014.8:g.74951304dup	(Likely) benign	1 lab	274bf57df7
10:50678525 ERCC6 T>G	10	50678525	50678525	T	G	ERCC6	c.3481A>C	NM_001346440.1	NP_001333369.1:p.(Ser1161Arg)	NC_000010.10:g.50678525T>G	(Likely) benign	1 lab	274c74f62c
10:81373504 SFTPA1 C>T	10	81373504	81373504	C	T	SFTPA1	c.382C>T	NM_005411.4	NP_005402.3:p.(Gln128Ter)	NC_000010.10:g.81373504C>T	(Likely) pathogenic	1 lab	274dfde18a
X:108641850 GUCY2F T>C	X	108641850	108641850	T	C	GUCY2F	c.2203A>G	NM_001522.2	NP_001513.2:p.(Ser735Gly)	NC_000023.10:g.108641850T>C	VUS	1 lab	274ee3a322
19:3905575 ATCAY A>T	19	3905575	3905575	A	T	ATCAY	c.280A>T	NM_033064.4	NP_149053.1:p.(Asn94Tyr)	NC_000019.9:g.3905575A>T	VUS	1 lab	27c3c8d721
X:108696987 GUCY2F C>A	X	108696987	108696987	C	A	GUCY2F	c.1134G>T	NM_001522.2	NP_001513.2:p.(Leu378=)	NC_000023.10:g.108696987C>A	(Likely) benign	1 lab	274f09d55d
4:650658 PDE6B C>T	4	650658	650658	C	T	PDE6B	c.1108-5C>T	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.650658C>T	(Likely) benign	1 lab	2750e5d400
16:81181861 MISSING G>T	16	81181861	81181861	G	T	MISSING				NC_000016.9:g.81181861G>T	(Likely) benign	1 lab	27512bdd4c
X:67273504 OPHN1 C>T	X	67273504	67273504	C	T	OPHN1	c.2307G>A	NM_002547.2	NP_002538.1:p.(Gly769=)	NC_000023.10:g.67273504C>T	(Likely) benign	1 lab	27518e6f98
5:89938496 ADGRV1 C>T	5	89938496	89938496	C	T	ADGRV1	c.2284C>T	NM_032119.4	NP_115495.3:p.(Arg762Cys)	NC_000005.9:g.89938496C>T	VUS	1 lab	2754720778
19:47570273 ZC3H4 T>C	19	47570273	47570273	T	C	ZC3H4	c.3252A>G	NM_015168.1	NP_055983.1:p.(Lys1084=)	NC_000019.9:g.47570273T>C	(Likely) benign	1 lab	27553fba12
X:135313079 MAP7D3 C>T	X	135313079	135313079	C	T	MAP7D3	c.1355G>A	NM_001173517.1	NP_001166988.1:p.(Arg452His)	NC_000023.10:g.135313079C>T	(Likely) benign	1 lab	2755505d9b
6:129649447 LAMA2 C>T	6	129649447	129649447	C	T	LAMA2	c.4201C>T	NM_000426.3	NP_000417.2:p.(Leu1401=)	NC_000006.11:g.129649447C>T	(Likely) benign	1 lab	275acfa983
17:7923440 GUCY2D C>T	17	7923440	7923440	C	T	GUCY2D	c.*25-6C>T	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7923440C>T	(Likely) benign	1 lab	275d702dba
17:73758831 GALK1 C>T	17	73758831	73758831	C	T	GALK1	c.747G>A	NM_000154.1	NP_000145.1:p.(Ala249=)	NC_000017.10:g.73758831C>T	(Likely) benign	1 lab	275e3bea31
8:126088708 WASHC5 G>A	8	126088708	126088708	G	A	WASHC5	c.746C>T	NM_014846.3	NP_055661.3:p.(Thr249Ile)	NC_000008.10:g.126088708G>A	VUS	1 lab	275e40dbd6
19:10116793 COL5A3 C>A	19	10116793	10116793	C	A	COL5A3	c.203G>T	NM_015719.3	NP_056534.2:p.(Gly68Val)	NC_000019.9:g.10116793C>A	VUS	1 lab	275e4379a6
11:6415475 SMPD1 G>A	11	6415475	6415475	G	A	SMPD1	c.613G>A	NM_001318088.1	NP_001305017.1:p.(Val205Met)	NC_000011.9:g.6415475G>A	VUS	1 lab	275fc9fea4
7:56136277 MISSING C>T	7	56136277	56136277	C	T	MISSING				NC_000007.13:g.56136277C>T	(Likely) benign	1 lab	2761e1e557
X:68049620 EFNB1 A>G	X	68049620	68049620	A	G	EFNB1	c.1A>G	NM_004429.4	NP_004420.1:p.(Met1?)	NC_000023.10:g.68049620A>G	(Likely) pathogenic	1 lab	2762fe31e4
7:29134728 CPVL G>A	7	29134728	29134728	G	A	CPVL	c.434C>T	NM_019029.3	NP_061902.2:p.(Thr145Met)	NC_000007.13:g.29134728G>A	(Likely) benign	1 lab	27647eb330
8:1833765 ARHGEF10 A>C	8	1833765	1833765	A	C	ARHGEF10	c.1151-2A>C	NM_001308153.1	NP_001295082.1:p.?	NC_000008.10:g.1833765A>C	VUS	1 lab	27654bbcec
11:1266682 MUC5B C>A	11	1266682	1266682	C	A	MUC5B	c.8572C>A	NM_002458.2	NP_002449.2:p.(Pro2858Thr)	NC_000011.9:g.1266682C>A	(Likely) benign	1 lab	2765e11f64
X:111022233 TRPC5 G>T	X	111022233	111022233	G	T	TRPC5	c.2212C>A	NM_012471.2	NP_036603.1:p.(Leu738Ile)	NC_000023.10:g.111022233G>T	(Likely) benign	1 lab	2768948c52
13:39453014 FREM2 T>C	13	39453014	39453014	T	C	FREM2	c.8906T>C	NM_207361.5	NP_997244.4:p.(Leu2969Pro)	NC_000013.10:g.39453014T>C	VUS	1 lab	276a998f3c
X:11130136 HCCS C>A	X	11130136	11130136	C	A	HCCS	c.-42-3C>A	NM_005333.5	NP_005324.3:p.?	NC_000023.10:g.11130136C>A	VUS	1 lab	276b3ab0c4
15:66995989 SMAD6 GCGGGACGCCGCCGGCGCGCCC>G	15	66995989	66996019	GCGGGACGCCGCCGGCGCGCCC	G	SMAD6	c.403_423del	NM_005585.5	NP_005576.3:p.(Ala135_Ala141del)	NC_000015.9:g.66995999_66996019del	VUS	1 lab	276e6c1af8
22:18905978 PRODH G>A	22	18905978	18905978	G	A	PRODH	c.1278C>T	NM_016335.6	NP_057419.5:p.(Asp426=)	NC_000022.10:g.18905978G>A	(Likely) benign	1 lab	e74cce0383
X:53230804 KDM5C C>T	X	53230804	53230804	C	T	KDM5C	c.1989G>A	NM_004187.3	NP_004178.2:p.(Ala663=)	NC_000023.10:g.53230804C>T	(Likely) benign	1 lab	2770603425
18:60033958 TNFRSF11A A>G	18	60033958	60033958	A	G	TNFRSF11A	c.706A>G	NM_001278268.1	NP_001265197.1:p.(Ile236Val)	NC_000018.9:g.60033958A>G	(Likely) benign	1 lab	2770d67a20
8:48882392 MCM4 A>G	8	48882392	48882392	A	G	MCM4	c.1209A>G	NM_005914.4	NP_005905.2:p.(Pro403=)	NC_000008.10:g.48882392A>G	(Likely) benign	1 lab	2771590425
2:179634468 TTN T>C	2	179634468	179634468	T	C	TTN	c.8840A>G	NM_001267550.1	NP_001254479.1:p.(Asp2947Gly)	NC_000002.11:g.179634468T>C	VUS	1 lab	2771dc663e
6:66337320 EYS A>G	6	66337320	66337320	A	G	EYS	c.-333+12351T>C	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66337320A>G	(Likely) benign	1 lab	2774bd6213
17:58740496 PPM1D CTCAAAAGA>C	17	58740496	58740506	CTCAAAAGA	C	PPM1D	c.1404_1411del	NM_003620.4	NP_003611.1:p.(Lys469ArgfsTer4)	NC_000017.10:g.58740499_58740506del	VUS	1 lab	277626e6d8
1:25891174 LDLRAP1 G>A	1	25891174	25891174	G	A	LDLRAP1	c.748-490G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891174G>A	(Likely) benign	1 lab	41be280522
15:100801810 ADAMTS17 C>T	15	100801810	100801810	C	T	ADAMTS17	c.905G>A	NM_139057.3	NP_620688.2:p.(Arg302Gln)	NC_000015.9:g.100801810C>T	(Likely) benign	1 lab	277637591a
17:73826696 UNC13D A>G	17	73826696	73826696	A	G	UNC13D	c.2672T>C	NM_199242.2	NP_954712.1:p.(Leu891Pro)	NC_000017.10:g.73826696A>G	VUS	1 lab	277639f843
19:50365041 PNKP G>A	19	50365041	50365041	G	A	PNKP	c.1286C>T	NM_007254.3	NP_009185.2:p.(Ala429Val)	NC_000019.9:g.50365041G>A	VUS	1 lab	2776e3e218
13:32913729 BRCA2 C>CT	13	32913729	32913730	C	CT	BRCA2	c.5238dup	NM_000059.3	NP_000050.2:p.(Asn1747Ter)	NC_000013.10:g.32913730dup	(Likely) pathogenic	1 lab	277825bd5d
19:36149508 COX6B1 G>T	19	36149508	36149508	G	T	COX6B1	c.220G>T	NM_001863.5	NP_001854.1:p.(Asp74Tyr)	NC_000019.9:g.36149508G>T	VUS	1 lab	2779b07197
18:10773440 PIEZO2 C>T	18	10773440	10773440	C	T	PIEZO2	c.2680G>A	NM_022068.3	NP_071351.2:p.(Glu894Lys)	NC_000018.9:g.10773440C>T	(Likely) benign	1 lab	277a310138
X:77912605 RTL3 C>T	X	77912605	77912605	C	T	RTL3	c.1313G>A	NM_152694.2	NP_689907.1:p.(Arg438His)	NC_000023.10:g.77912605C>T	(Likely) benign	1 lab	277bacd0ea
X:70519823 NONO C>T	X	70519823	70519823	C	T	NONO	c.1313C>T	NM_001145408.1	NP_001138880.1:p.(Ala438Val)	NC_000023.10:g.70519823C>T	(Likely) benign	1 lab	277beb3722
4:122740711 CCNA2 G>A	4	122740711	122740711	G	A	CCNA2	c.818C>T	NM_001237.4	NP_001228.1:p.(Pro273Leu)	NC_000004.11:g.122740711G>A	VUS	1 lab	277bf4d6d3
3:10183527 VHL A>C	3	10183527	10183527	A	C	VHL	c.-5A>C	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10183527A>C	(Likely) benign	1 lab	277c5d1d2e
10:96028722 PLCE1 T>A	10	96028722	96028722	T	A	PLCE1	c.4318T>A	NM_016341.3	NP_057425.3:p.(Cys1440Ser)	NC_000010.10:g.96028722T>A	VUS	1 lab	277e3d3593
3:128627086 ACAD9 G>A	3	128627086	128627086	G	A	ACAD9	c.1337G>A	NM_014049.4	NP_054768.2:p.(Arg446His)	NC_000003.11:g.128627086G>A	VUS	1 lab	278139f32c
2:233635939 KCNJ13 C>G	2	233635939	233635939	C	G	KCNJ13	c.134G>C	NM_002242.4	NP_002233.2:p.(Trp45Ser)	NC_000002.11:g.233635939C>G	VUS	1 lab	27816670e9
4:88537528 DSPP T>C	4	88537528	88537528	T	C	DSPP	c.3714T>C	NM_014208.3	NP_055023.2:p.(Ser1238=)	NC_000004.11:g.88537528T>C	(Likely) benign	1 lab	2783251295
17:29592244 NF1 TA>T	17	29592244	29592245	TA	T	NF1	c.4725-2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29592245del	(Likely) pathogenic	1 lab	2784cf08e5
16:56899396 SLC12A3 G>T	16	56899396	56899396	G	T	SLC12A3	c.249G>T	NM_000339.2	NP_000330.2:p.(Arg83=)	NC_000016.9:g.56899396G>T	(Likely) benign	1 lab	2785105e2b
X:53247077 KDM5C G>A	X	53247077	53247077	G	A	KDM5C	c.423C>T	NM_004187.3	NP_004178.2:p.(Leu141=)	NC_000023.10:g.53247077G>A	(Likely) benign	1 lab	278555533b
16:314829 FAM234A C>T	16	314829	314829	C	T	FAM234A	c.1467C>T	NM_032039.4	NP_114428.1:p.(Ser489=)	NC_000016.9:g.314829C>T	(Likely) benign	1 lab	278966c370
X:153698920 PLXNA3 G>A	X	153698920	153698920	G	A	PLXNA3	c.5122G>A	NM_017514.4	NP_059984.3:p.(Asp1708Asn)	NC_000023.10:g.153698920G>A	VUS	1 lab	278a92f07e
Y:14889974 USP9Y C>T	Y	14889974	14889974	C	T	USP9Y	c.2661C>T	NM_004654.3	NP_004645.2:p.(Leu887=)	NC_000024.9:g.14889974C>T	(Likely) benign	1 lab	278aa2bc99
X:50051509 CCNB3 A>G	X	50051509	50051509	A	G	CCNB3	c.340A>G	NM_033031.2	NP_149020.2:p.(Lys114Glu)	NC_000023.10:g.50051509A>G	VUS	1 lab	278ab8de04
16:28763851 NPIPB9 T>C	16	28763851	28763851	T	C	NPIPB9	c.58T>C	NM_001287250.1	NP_001274179.1:p.(Phe20Leu)	NC_000016.9:g.28763851T>C	(Likely) benign	1 lab	278baf22ed
X:64957085 MSN G>A	X	64957085	64957085	G	A	MSN	c.1136G>A	NM_002444.2	NP_002435.1:p.(Arg379Gln)	NC_000023.10:g.64957085G>A	VUS	1 lab	278bbfb7f8
3:38105330 DLEC1 A>G	3	38105330	38105330	A	G	DLEC1	c.1095-2A>G	NM_001321153.1	NP_001308082.1:p.?	NC_000003.11:g.38105330A>G	VUS	1 lab	278c11c134
X:53279922 IQSEC2 G>A	X	53279922	53279922	G	A	IQSEC2	c.1836C>T	NM_001111125.2	NP_001104595.1:p.(Arg612=)	NC_000023.10:g.53279922G>A	(Likely) benign	1 lab	278cd8edf3
16:72991721 ZFHX3 G>A	16	72991721	72991721	G	A	ZFHX3	c.2324C>T	NM_006885.3	NP_008816.3:p.(Ala775Val)	NC_000016.9:g.72991721G>A	VUS	1 lab	278e3ec3f1
1:42922273 PPCS C>A	1	42922273	42922273	C	A	PPCS	c.37C>A	NM_024664.4	NP_078940.2:p.(Pro13Thr)	NC_000001.10:g.42922273C>A	VUS	1 lab	278eb5324c
2:27292520 AGBL5 C>T	2	27292520	27292520	C	T	AGBL5	c.2435C>T	NM_021831.5	NP_068603.4:p.(Pro812Leu)	NC_000002.11:g.27292520C>T	VUS	1 lab	278f1613ec
19:57081696 ZNF470 G>A	19	57081696	57081696	G	A	ZNF470	c.16G>A	NM_001001668.4	NP_001001668.3:p.(Glu6Lys)	NC_000019.9:g.57081696G>A	VUS	1 lab	278f569105
16:630946 PIGQ G>A	16	630946	630946	G	A	PIGQ	c.1505G>A	NM_004204.5	NP_004195.2:p.(Arg502Gln)	NC_000016.9:g.630946G>A	(Likely) benign	1 lab	e74fa46de9
17:29554538 NF1 T>G	17	29554538	29554538	T	G	NF1	c.2326-3T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554538T>G	VUS	1 lab	27906f46bf
4:6302575 WFS1 C>G	4	6302575	6302575	C	G	WFS1	c.1053C>G	NM_006005.3	NP_005996.2:p.(Tyr351Ter)	NC_000004.11:g.6302575C>G	(Likely) pathogenic	1 lab	2791b92721
17:4925813 KIF1C G>A	17	4925813	4925813	G	A	KIF1C	c.2437G>A	NM_006612.5	NP_006603.2:p.(Gly813Ser)	NC_000017.10:g.4925813G>A	(Likely) benign	1 lab	27921513f5
5:178417597 GRM6 G>A	5	178417597	178417597	G	A	GRM6	c.1008C>T	NM_000843.4	NP_000834.2:p.(Ile336=)	NC_000005.9:g.178417597G>A	(Likely) benign	1 lab	2792562edc
15:35083375 ACTC1 A>G	15	35083375	35083375	A	G	ACTC1	c.930T>C	NM_005159.4	NP_005150.1:p.(Gly310=)	NC_000015.9:g.35083375A>G	(Likely) benign	1 lab	27935952bc
11:125478024 STT3A C>A	11	125478024	125478024	C	A	STT3A	c.801C>A	NM_001278503.2	NP_001265432.1:p.(His267Gln)	NC_000011.9:g.125478024C>A	VUS	1 lab	e7522f3fe0
X:68749625 NALF2 C>G	X	68749625	68749625	C	G	NALF2	c.1245C>G	NM_015686.2	NP_056501.2:p.(Pro415=)	NC_000023.10:g.68749625C>G	(Likely) benign	1 lab	2793d732ee
18:6971954 LAMA1 A>G	18	6971954	6971954	A	G	LAMA1	c.6801T>C	NM_005559.3	NP_005550.2:p.(His2267=)	NC_000018.9:g.6971954A>G	(Likely) benign	1 lab	2796c8b4a9
9:123165300 CDK5RAP2 G>A	9	123165300	123165300	G	A	CDK5RAP2	c.5091C>T	NM_018249.5	NP_060719.4:p.(Cys1697=)	NC_000009.11:g.123165300G>A	(Likely) benign	1 lab	2798ae488c
X:130220546 ARHGAP36 A>G	X	130220546	130220546	A	G	ARHGAP36	c.1393A>G	NM_144967.4	NP_659404.2:p.(Lys465Glu)	NC_000023.10:g.130220546A>G	(Likely) benign	1 lab	279a961fe9
5:33947332 SLC45A2 G>T	5	33947332	33947332	G	T	SLC45A2	c.1304C>A	NM_001012509.3	NP_001012527.1:p.(Ser435Tyr)	NC_000005.9:g.33947332G>T	VUS	1 lab	279c0b38c9
X:16720951 CTPS2 C>T	X	16720951	16720951	C	T	CTPS2	c.75G>A	NM_001144002.1	NP_001137474.1:p.(Thr25=)	NC_000023.10:g.16720951C>T	(Likely) benign	1 lab	279cac47c4
18:72775845 ZNF407 C>T	18	72775845	72775845	C	T	ZNF407	c.6168C>T	NM_017757.2	NP_060227.2:p.(Leu2056=)	NC_000018.9:g.72775845C>T	(Likely) benign	1 lab	279dba0bf6
5:150925046 FAT2 A>G	5	150925046	150925046	A	G	FAT2	c.5642T>C	NM_001447.2	NP_001438.1:p.(Ile1881Thr)	NC_000005.9:g.150925046A>G	(Likely) benign	1 lab	27a1679e62
16:89986111 MC1R G>A	16	89986111	89986111	G	A	MC1R	c.445G>A	NM_002386.3	NP_002377.4:p.(Ala149Thr)	NC_000016.9:g.89986111G>A	VUS	1 lab	27a182b798
X:2407473 ZBED1 G>A	X	2407473	2407473	G	A	ZBED1	c.1288C>T	NM_001171135.1	NP_001164606.1:p.(Leu430=)	NC_000023.10:g.2407473G>A	(Likely) benign	1 lab	27a2683a2c
2:238280439 COL6A3 G>C	2	238280439	238280439	G	C	COL6A3	c.4221C>G	NM_004369.3	NP_004360.2:p.(Pro1407=)	NC_000002.11:g.238280439G>C	(Likely) benign	1 lab	27a4ec94b1
1:53676395 CPT2 G>A	1	53676395	53676395	G	A	CPT2	c.1049G>A	NM_000098.3	NP_000089.1:p.(Arg350His)	NC_000001.10:g.53676395G>A	VUS	1 lab	e752ab2627
10:102770185 PDZD7 G>A	10	102770185	102770185	G	A	PDZD7	c.2461C>T	NM_001195263.1	NP_001182192.1:p.(Pro821Ser)	NC_000010.10:g.102770185G>A	(Likely) benign	1 lab	27ac353dab
1:39851417 MACF1 G>A	1	39851417	39851417	G	A	MACF1	c.7974G>A	NM_012090.5	NP_036222.3:p.(Lys2658=)	NC_000001.10:g.39851417G>A	(Likely) benign	1 lab	27ac9332a3
14:64692105 SYNE2 AGCTGCTCCTCCTGCTGCT>A	14	64692105	64692132	AGCTGCTCCTCCTGCTGCT	A	SYNE2	c.20595_20612del	NM_182914.3	NP_878918.2:p.(Leu6866_Leu6871del)	NC_000014.8:g.64692115_64692132del	VUS	1 lab	e753db8dbb
5:140223325 PCDHA8 C>T	5	140223325	140223325	C	T	PCDHA8	c.2419C>T	NM_031856.1	NP_114062.1:p.(His807Tyr)	NC_000005.9:g.140223325C>T	(Likely) benign	1 lab	27ad71c771
2:179418495 TTN G>C	2	179418495	179418495	G	C	TTN	c.89237C>G	NM_001267550.1	NP_001254479.1:p.(Ser29746Ter)	NC_000002.11:g.179418495G>C	(Likely) pathogenic	1 lab	27ae135b17
8:77767466 ZFHX4 C>T	8	77767466	77767466	C	T	ZFHX4	c.8309C>T	NM_024721.4	NP_078997.4:p.(Pro2770Leu)	NC_000008.10:g.77767466C>T	VUS	1 lab	27aea2aac3
8:9565980 TNKS C>T	8	9565980	9565980	C	T	TNKS	c.1556C>T	NM_003747.3	NP_003738.2:p.(Pro519Leu)	NC_000008.10:g.9565980C>T	VUS	1 lab	27aef26855
6:33272355 TAPBP G>A	6	33272355	33272355	G	A	TAPBP	c.929C>T	NM_003190.4	NP_003181.3:p.(Pro310Leu)	NC_000006.11:g.33272355G>A	VUS	1 lab	27af86014d
20:10394049 MKKS G>A	20	10394049	10394049	G	A	MKKS	c.114C>T	NM_018848.3	NP_061336.1:p.(Gly38=)	NC_000020.10:g.10394049G>A	(Likely) benign	1 lab	27afe06c0a
X:15373285 VEGFD G>A	X	15373285	15373285	G	A	VEGFD	c.628C>T	NM_004469.4	NP_004460.1:p.(Pro210Ser)	NC_000023.10:g.15373285G>A	VUS	1 lab	27b08a906a
22:42606219 TCF20 G>A	22	42606219	42606219	G	A	TCF20	c.5093C>T	NM_005650.3	NP_005641.1:p.(Ser1698Leu)	NC_000022.10:g.42606219G>A	(Likely) benign	1 lab	27b4f928a7
16:2543593 TBC1D24 G>T	16	2543593	2543593	G	T	TBC1D24	c.-115-2442G>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2543593G>T	VUS	1 lab	e7562ee9f3
7:42187896 GLI3 TC>T	7	42187896	42187898	TC	T	GLI3	c.295del	NM_000168.6	NP_000159.3:p.(Glu99SerfsTer60)	NC_000007.13:g.42187898del	(Likely) pathogenic	1 lab	27b5fa0c23
X:70514172 NONO A>G	X	70514172	70514172	A	G	NONO	c.444A>G	NM_001145408.1	NP_001138880.1:p.(Ala148=)	NC_000023.10:g.70514172A>G	(Likely) benign	1 lab	27b7a9603a
2:108487730 RGPD4 C>T	2	108487730	108487730	C	T	RGPD4	c.3270C>T	NM_182588.2	NP_872394.2:p.(Asn1090=)	NC_000002.11:g.108487730C>T	(Likely) benign	1 lab	27b7cb7701
X:153588600 FLNA GC>G	X	153588600	153588601	GC	G	FLNA	c.3562del	NM_001110556.2	NP_001104026.1:p.(Ala1188ArgfsTer6)	NC_000023.10:g.153588601del	(Likely) pathogenic	1 lab	27b8f66fa6
1:244999801 COX20 G>C	1	244999801	244999801	G	C	COX20	c.57G>C	NM_001312872.1	NP_001299801.1:p.(Ser19=)	NC_000001.10:g.244999801G>C	(Likely) benign	1 lab	27b9787d98
16:67201734 HSF4 G>T	16	67201734	67201734	G	T	HSF4	c.966G>T	NM_001040667.2	NP_001035757.1:p.(Pro322=)	NC_000016.9:g.67201734G>T	(Likely) benign	1 lab	27bb1cdfa1
8:61749310 CHD7 TA>T	8	61749310	61749317	TA	T	CHD7	c.3990-59del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61749317del	(Likely) benign	1 lab	27bd6de289
17:26864291 FOXN1 G>T	17	26864291	26864291	G	T	FOXN1	c.1784G>T	NM_003593.2	NP_003584.2:p.(Gly595Val)	NC_000017.10:g.26864291G>T	(Likely) benign	1 lab	27bf80562c
10:102783774 PDZD7 G>A	10	102783774	102783774	G	A	PDZD7	c.278C>T	NM_001195263.1	NP_001182192.1:p.(Pro93Leu)	NC_000010.10:g.102783774G>A	VUS	1 lab	27c1085b28
13:32945109 BRCA2 CA>C	13	32945109	32945110	CA	C	BRCA2	c.8505del	NM_000059.4	NP_000050.3:p.(Ser2836LeufsTer27)	NC_000013.10:g.32945110del	(Likely) pathogenic	1 lab	27c1fd337b
17:29676243 NF1 A>AC	17	29676243	29676244	A	AC	NF1	c.7232_7233insC	NM_000267.3	NP_000258.1:p.(Thr2412TyrfsTer15)	NC_000017.10:g.29676243_29676244insC	(Likely) pathogenic	1 lab	27c41d27f1
16:701068 WDR90 G>A	16	701068	701068	G	A	WDR90	c.633G>A	NM_145294.5	NP_660337.3:p.(Lys211=)	NC_000016.9:g.701068G>A	(Likely) benign	1 lab	27c68b6210
18:67741233 RTTN GCAA>G	18	67741233	67741240	GCAA	G	RTTN	c.4565-6_4565-4del	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67741238_67741240del	(Likely) benign	1 lab	27c6ac0fec
7:100355891 ZAN G>C	7	100355891	100355891	G	C	ZAN	c.3376G>C	NM_003386.2	NP_003377.2:p.(Glu1126Gln)	NC_000007.13:g.100355891G>C	(Likely) benign	1 lab	27c77f5ae5
3:48508461 TREX1 C>T	3	48508461	48508461	C	T	TREX1	c.377C>T	NM_007248.4	NP_009179.2:p.(Ala126Val)	NC_000003.11:g.48508461C>T	VUS	1 lab	27c8d299d6
19:2129462 AP3D1 G>A	19	2129462	2129462	G	A	AP3D1	c.593-6C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2129462G>A	(Likely) benign	1 lab	27c938bafb
14:51224760 NIN C>T	14	51224760	51224760	C	T	NIN	c.2988G>A	NM_020921.3	NP_065972.3:p.(Ala996=)	NC_000014.8:g.51224760C>T	(Likely) benign	1 lab	27c976f5fc
5:94857862 SKIC3 AAC>A	5	94857862	94857868	AAC	A	SKIC3	c.1905_1906del	NM_014639.4	NP_055454.1:p.(Phe636Ter)	NC_000005.9:g.94857867_94857868del	(Likely) pathogenic	1 lab	27cd8ab360
10:85978836 CDHR1 T>A	10	85978836	85978836	T	A	CDHR1	c.2042T>A	NM_001171971.2	NP_001165442.1:p.(Val681Glu)	NC_000010.10:g.85978836T>A	VUS	1 lab	27ce537a49
17:78069071 CCDC40 G>A	17	78069071	78069071	G	A	CCDC40	c.2842G>A	NM_017950.3	NP_060420.2:p.(Gly948Arg)	NC_000017.10:g.78069071G>A	VUS	1 lab	27ce97bf1d
14:94964500 SERPINA12 T>G	14	94964500	94964500	T	G	SERPINA12	c.235A>C	NM_173850.3	NP_776249.1:p.(Ile79Leu)	NC_000014.8:g.94964500T>G	VUS	1 lab	27cf2939f2
X:153688733 PLXNA3 C>T	X	153688733	153688733	C	T	PLXNA3	c.210C>T	NM_017514.4	NP_059984.3:p.(Pro70=)	NC_000023.10:g.153688733C>T	(Likely) benign	1 lab	27df9974f4
1:27876148 AHDC1 C>A	1	27876148	27876148	C	A	AHDC1	c.2479G>T	NM_001029882.3	NP_001025053.1:p.(Glu827Ter)	NC_000001.10:g.27876148C>A	VUS	1 lab	27d073cdc6
3:71179745 FOXP1 G>A	3	71179745	71179745	G	A	FOXP1	c.90C>T	NM_001244815.1	NP_001231744.1:p.(Pro30=)	NC_000003.11:g.71179745G>A	(Likely) benign	1 lab	27d145914c
8:88886036 DCAF4L2 T>C	8	88886036	88886036	T	C	DCAF4L2	c.164A>G	NM_152418.4	NP_689631.1:p.(Gln55Arg)	NC_000008.10:g.88886036T>C	(Likely) benign	1 lab	27d2940a7d
14:23853644 MYH6 G>A	14	23853644	23853644	G	A	MYH6	c.5565+7C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23853644G>A	(Likely) benign	1 lab	27d3bcc670
18:21495350 LAMA3 T>C	18	21495350	21495350	T	C	LAMA3	c.7742T>C	NM_198129.2	NP_937762.2:p.(Phe2581Ser)	NC_000018.9:g.21495350T>C	VUS	1 lab	27d3df6ef6
6:90642308 BACH2 G>A	6	90642308	90642308	G	A	BACH2	c.2345C>T	NM_021813.4	NP_068585.1:p.(Ala782Val)	NC_000006.11:g.90642308G>A	VUS	1 lab	27d42fab32
8:86386635 CA2 T>C	8	86386635	86386635	T	C	CA2	c.434T>C	NM_000067.2	NP_000058.1:p.(Ile145Thr)	NC_000008.10:g.86386635T>C	VUS	1 lab	27d479ffd1
13:32972922 BRCA2 G>A	13	32972922	32972922	G	A	BRCA2	c.*15G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972922G>A	VUS	1 lab	27d4c9d257
20:61512083 DIDO1 TTC>T	20	61512083	61512086	TTC	T	DIDO1	c.5223_5224del	NM_001193369.2	NP_001180298.1:p.(Lys1742SerfsTer47)	NC_000020.10:g.61512085_61512086del	VUS	1 lab	27d6c09107
17:71202835 COG1 CTT>C	17	71202835	71202837	CTT	C	COG1	c.2620-11_2620-10del	NM_018714.3	NP_061184.1:p.?	NC_000017.10:g.71202836_71202837del	(Likely) benign	1 lab	27d9f72283
19:1390963 NDUFS7 G>A	19	1390963	1390963	G	A	NDUFS7	c.322G>A	NM_024407.5	NP_077718.3:p.(Val108Met)	NC_000019.9:g.1390963G>A	VUS	1 lab	e75b10688d
19:4110501 MAP2K2 A>G	19	4110501	4110501	A	G	MAP2K2	c.450+6T>C	NM_030662.4	NP_109587.1:p.?	NC_000019.9:g.4110501A>G	(Likely) benign	1 lab	e75befd8ee
9:73233933 TRPM3 C>T	9	73233933	73233933	C	T	TRPM3				NC_000009.11:g.73233933C>T	(Likely) benign	1 lab	27db299483
19:3983302 EEF2 G>A	19	3983302	3983302	G	A	EEF2	c.219-13C>T	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3983302G>A	(Likely) benign	1 lab	27db3d187e
11:6638340 TPP1 G>A	11	6638340	6638340	G	A	TPP1	c.553C>T	NM_000391.3	NP_000382.3:p.(Arg185Cys)	NC_000011.9:g.6638340G>A	(Likely) benign	1 lab	27dc6756a7
1:5987711 NPHP4 G>A	1	5987711	5987711	G	A	NPHP4	c.1439C>T	NM_015102.4	NP_055917.1:p.(Ser480Leu)	NC_000001.10:g.5987711G>A	VUS	1 lab	27dce6ca30
20:47558417 ARFGEF2 C>T	20	47558417	47558417	C	T	ARFGEF2	c.169C>T	NM_006420.2	NP_006411.2:p.(Pro57Ser)	NC_000020.10:g.47558417C>T	(Likely) benign	1 lab	27de4578e2
3:43474141 ANO10 T>C	3	43474141	43474141	T	C	ANO10	c.1876A>G	NM_018075.4	NP_060545.3:p.(Arg626Gly)	NC_000003.11:g.43474141T>C	VUS	1 lab	27de681155
3:4752020 ITPR1 C>T	3	4752020	4752020	C	T	ITPR1	c.4809C>T	NM_001168272.1	NP_001161744.1:p.(Ser1603=)	NC_000003.11:g.4752020C>T	(Likely) benign	1 lab	27df27047a
10:124361485 DMBT1 AG>A	10	124361485	124361487	AG	A	DMBT1	c.3518del	NM_001377530.1	NP_001364459.1:p.(Gly1173GlufsTer79)	NC_000010.10:g.124361487del	VUS	1 lab	27e084c9e8
13:60384943 DIAPH3 G>A	13	60384943	60384943	G	A	DIAPH3	c.3142C>T	NM_001042517.1	NP_001035982.1:p.(Arg1048Cys)	NC_000013.10:g.60384943G>A	VUS	1 lab	27e202a6c1
18:19424142 MIB1 T>C	18	19424142	19424142	T	C	MIB1	c.2139T>C	NM_020774.3	NP_065825.1:p.(Ser713=)	NC_000018.9:g.19424142T>C	(Likely) benign	1 lab	27e4c2d9c4
2:189917514 COL5A2 A>T	2	189917514	189917514	A	T	COL5A2	c.2676T>A	NM_000393.4	NP_000384.2:p.(Val892=)	NC_000002.11:g.189917514A>T	(Likely) benign	1 lab	27e694a0f1
10:78704688 KCNMA1 G>A	10	78704688	78704688	G	A	KCNMA1	c.2592C>T	NM_001322830.1	NP_001309759.1:p.(Val864=)	NC_000010.10:g.78704688G>A	(Likely) benign	1 lab	27e6cb5ba9
9:131117338 SLC27A4 C>T	9	131117338	131117338	C	T	SLC27A4	c.1331C>T	NM_005094.3	NP_005085.2:p.(Pro444Leu)	NC_000009.11:g.131117338C>T	VUS	1 lab	27e7a56089
15:57565394 TCF12 C>G	15	57565394	57565394	C	G	TCF12	c.1912C>G	NM_207037.1	NP_996920.1:p.(Gln638Glu)	NC_000015.9:g.57565394C>G	(Likely) pathogenic	1 lab	27e907c0d2
17:6498302 KIAA0753 T>C	17	6498302	6498302	T	C	KIAA0753	c.1533A>G	NM_001351225.1	NP_001338154.1:p.(Glu511=)	NC_000017.10:g.6498302T>C	(Likely) benign	1 lab	27e9522976
9:140093903 TPRN G>A	9	140093903	140093903	G	A	TPRN	c.1261C>T	NM_001128228.3	NP_001121700.2:p.(Pro421Ser)	NC_000009.11:g.140093903G>A	(Likely) benign	1 lab	27e969dbea
15:81592384 IL16 C>T	15	81592384	81592384	C	T	IL16	c.2717C>T	NM_001172128.1	NP_001165599.1:p.(Ser906Leu)	NC_000015.9:g.81592384C>T	(Likely) benign	1 lab	27ea7a262c
2:131096744 VMA22 C>G	2	131096744	131096744	C	G	VMA22	c.477G>C	NM_001321118.1	NP_001308047.1:p.(Gln159His)	NC_000002.11:g.131096744C>G	VUS	1 lab	27eb6db08f
2:217279563 SMARCAL1 C>T	2	217279563	217279563	C	T	SMARCAL1	c.136C>T	NM_014140.3	NP_054859.2:p.(Pro46Ser)	NC_000002.11:g.217279563C>T	(Likely) benign	1 lab	27ef10e977
17:29653057 NF1 G>GGCCA	17	29653057	29653059	G	GGCCA	NF1	c.4993_4994insCCAG	NM_000267.3	NP_000258.1:p.(Val1665AlafsTer10)	NC_000017.10:g.29653058_29653059insCCAG	(Likely) pathogenic	1 lab	27f13cfd41
X:153595880 FLNA G>A	X	153595880	153595880	G	A	FLNA	c.753C>T	NM_001110556.2	NP_001104026.1:p.(Asn251=)	NC_000023.10:g.153595880G>A	(Likely) benign	1 lab	27f1959943
10:73485208 CDH23 G>A	10	73485208	73485208	G	A	CDH23	c.3510G>A	NM_022124.5	NP_071407.4:p.(Arg1170=)	NC_000010.10:g.73485208G>A	(Likely) benign	1 lab	27f4645f09
1:215848655 USH2A A>C	1	215848655	215848655	A	C	USH2A	c.12598T>G	NM_206933.2	NP_996816.2:p.(Trp4200Gly)	NC_000001.10:g.215848655A>C	VUS	1 lab	27f467915c
X:37028022 FAM47C G>C	X	37028022	37028022	G	C	FAM47C	c.1539G>C	NM_001013736.2	NP_001013758.1:p.(Glu513Asp)	NC_000023.10:g.37028022G>C	(Likely) benign	1 lab	27fa409504
6:51732781 PKHD1 T>A	6	51732781	51732781	T	A	PKHD1	c.7613A>T	NM_138694.3	NP_619639.3:p.(His2538Leu)	NC_000006.11:g.51732781T>A	(Likely) benign	1 lab	27fb61d4ae
2:32379521 SPAST G>T	2	32379521	32379521	G	T	SPAST	c.1807G>T	NM_014946.3	NP_055761.2:p.(Ala603Ser)	NC_000002.11:g.32379521G>T	(Likely) benign	1 lab	27fbc8041c
5:13902182 DNAH5 T>A	5	13902182	13902182	T	A	DNAH5	c.1710A>T	NM_001369.2	NP_001360.1:p.(Arg570Ser)	NC_000005.9:g.13902182T>A	VUS	1 lab	27fc3523b8
10:1405488 ADARB2 G>C	10	1405488	1405488	G	C	ADARB2	c.812C>G	NM_018702.4	NP_061172.1:p.(Pro271Arg)	NC_000010.10:g.1405488G>C	(Likely) benign	1 lab	27fca3bf1b
19:49611321 SNRNP70 G>T	19	49611321	49611321	G	T	SNRNP70	c.935G>T	NM_003089.6	NP_003080.2:p.(Gly312Val)	NC_000019.9:g.49611321G>T	VUS	1 lab	27fe26b0de
15:51828684 DMXL2 A>G	15	51828684	51828684	A	G	DMXL2	c.1993T>C	NM_001174116.1	NP_001167587.1:p.(Leu665=)	NC_000015.9:g.51828684A>G	(Likely) benign	1 lab	27fec2608d
16:2136361 TSC2 G>A	16	2136361	2136361	G	A	TSC2	c.4830G>A	NM_000548.3	NP_000539.2:p.(Trp1610Ter)	NC_000016.9:g.2136361G>A	(Likely) pathogenic	1 lab	2801040539
16:2159480 PKD1 G>C	16	2159480	2159480	G	C	PKD1	c.5688C>G	NM_001009944.2	NP_001009944.2:p.(Ser1896Arg)	NC_000016.9:g.2159480G>C	(Likely) benign	1 lab	280240110f
X:100911914 ARMCX2 G>A	X	100911914	100911914	G	A	ARMCX2	c.661C>T	NM_177949.3	NP_808818.1:p.(Pro221Ser)	NC_000023.10:g.100911914G>A	(Likely) benign	1 lab	28036a0040
3:10074633 FANCD2 C>T	3	10074633	10074633	C	T	FANCD2	c.182C>T	NM_001319984.1	NP_001306913.1:p.(Thr61Met)	NC_000003.11:g.10074633C>T	(Likely) benign	1 lab	280405eba2
6:42666136 PRPH2 G>A	6	42666136	42666136	G	A	PRPH2	c.938C>T	NM_000322.4	NP_000313.2:p.(Pro313Leu)	NC_000006.11:g.42666136G>A	(Likely) benign	1 lab	28056f31e6
1:228559035 OBSCN C>T	1	228559035	228559035	C	T	OBSCN	c.23427C>T	NM_001271223.2	NP_001258152.2:p.(Pro7809=)	NC_000001.10:g.228559035C>T	(Likely) benign	1 lab	2806230d98
8:1905048 ARHGEF10 C>A	8	1905048	1905048	C	A	ARHGEF10	c.3726C>A	NM_001308153.1	NP_001295082.1:p.(Asp1242Glu)	NC_000008.10:g.1905048C>A	(Likely) benign	1 lab	28072ac2d5
X:138619518 F9 T>C	X	138619518	138619518	T	C	F9	c.253-3T>C	NM_000133.3	NP_000124.1:p.?	NC_000023.10:g.138619518T>C	(Likely) benign	1 lab	28077d69ec
2:179500899 TTN A>G	2	179500899	179500899	A	G	TTN	c.41399T>C	NM_001267550.1	NP_001254479.1:p.(Leu13800Ser)	NC_000002.11:g.179500899A>G	VUS	1 lab	28091ad830
19:38991346 RYR1 A>G	19	38991346	38991346	A	G	RYR1	c.7424A>G	NM_000540.2	NP_000531.2:p.(Gln2475Arg)	NC_000019.9:g.38991346A>G	VUS	1 lab	2809d44332
1:27660766 TMEM222 ACGT>A	1	27660766	27660770	ACGT	A	TMEM222	c.535_537del	NM_032125.3	NP_115501.2:p.(Val179del)	NC_000001.10:g.27660768_27660770del	VUS	1 lab	280acccc47
16:731481 STUB1 C>T	16	731481	731481	C	T	STUB1	c.186C>T	NM_001293197.1	NP_001280126.1:p.(Asp62=)	NC_000016.9:g.731481C>T	(Likely) benign	1 lab	280beef4a4
7:31378836 NEUROD6 T>A	7	31378836	31378836	T	A	NEUROD6	c.47A>T	NM_022728.4	NP_073565.2:p.(Gln16Leu)	NC_000007.13:g.31378836T>A	(Likely) benign	1 lab	280c1ef2e2
14:52949556 TXNDC16 T>C	14	52949556	52949556	T	C	TXNDC16	c.1236A>G	NM_020784.3	NP_065835.2:p.(Val412=)	NC_000014.8:g.52949556T>C	(Likely) benign	1 lab	280c447ea9
8:42294896 SLC20A2 C>A	8	42294896	42294896	C	A	SLC20A2	c.1134G>T	NM_001257180.2	NP_001244109.1:p.(Arg378=)	NC_000008.10:g.42294896C>A	(Likely) benign	1 lab	280e17d1ef
12:15807145 EPS8 T>A	12	15807145	15807145	T	A	EPS8	c.1184A>T	NM_004447.5	NP_004438.3:p.(Asn395Ile)	NC_000012.11:g.15807145T>A	VUS	1 lab	280e85ab8c
18:42530062 SETBP1 G>A	18	42530062	42530062	G	A	SETBP1	c.757G>A	NM_015559.3	NP_056374.2:p.(Ala253Thr)	NC_000018.9:g.42530062G>A	(Likely) benign	1 lab	280f2ef49f
16:2129123 TSC2 C>T	16	2129123	2129123	C	T	TSC2	c.3057C>T	NM_001114382.2	NP_001107854.1:p.(His1019=)	NC_000016.9:g.2129123C>T	(Likely) benign	1 lab	28112db264
11:66475071 SPTBN2 C>T	11	66475071	66475071	C	T	SPTBN2	c.1569G>A	NM_006946.3	NP_008877.1:p.(Arg523=)	NC_000011.9:g.66475071C>T	(Likely) benign	1 lab	281149ffca
17:78321071 RNF213 T>C	17	78321071	78321071	T	C	RNF213	c.8936T>C	NM_001256071.2	NP_001243000.2:p.(Ile2979Thr)	NC_000017.10:g.78321071T>C	VUS	1 lab	28124dc5dc
17:8701670 MFSD6L C>G	17	8701670	8701670	C	G	MFSD6L	c.769G>C	NM_152599.3	NP_689812.3:p.(Glu257Gln)	NC_000017.10:g.8701670C>G	VUS	1 lab	28130d6d37
X:122754794 THOC2 A>G	X	122754794	122754794	A	G	THOC2	c.4239T>C	NM_001081550.1	NP_001075019.1:p.(Asp1413=)	NC_000023.10:g.122754794A>G	(Likely) benign	1 lab	2817efcc4e
17:78166388 CARD14 C>G	17	78166388	78166388	C	G	CARD14	c.1326C>G	NM_001366385.1	NP_001353314.1:p.(Asp442Glu)	NC_000017.10:g.78166388C>G	(Likely) benign	1 lab	281907eedf
22:40807902 MRTFA G>A	22	40807902	40807902	G	A	MRTFA				NC_000022.10:g.40807902G>A	VUS	1 lab	2819c8f531
16:2108826 TSC2 C>CT	16	2108826	2108827	C	CT	TSC2	c.928dup	NM_000548.3	NP_000539.2:p.(Tyr310LeufsTer28)	NC_000016.9:g.2108827dup	(Likely) pathogenic	1 lab	281a713d46
11:105891688 MSANTD4 C>T	11	105891688	105891688	C	T	MSANTD4	c.-151+1G>A	NM_032424.3	NP_115800.1:p.?	NC_000011.9:g.105891688C>T	VUS	1 lab	281b65c95e
1:238048865 ZP4 G>C	1	238048865	238048865	G	C	ZP4	c.986C>G	NM_021186.4	NP_067009.1:p.(Ser329Cys)	NC_000001.10:g.238048865G>C	VUS	1 lab	281bfc8ce0
3:75713658 FRG2C AAG>A	3	75713658	75713660	AAG	A	FRG2C	c.129_130del	NM_001124759.5	NP_001118231.1:p.(Gly44GlnfsTer9)	NC_000003.11:g.75713659_75713660del	VUS	1 lab	281cd91960
10:88485941 LDB3 G>A	10	88485941	88485941	G	A	LDB3	c.2026G>A	NM_007078.3	NP_009009.1:p.(Val676Met)	NC_000010.10:g.88485941G>A	VUS	1 lab	e75c925bd2
11:69625389 FGF3 C>T	11	69625389	69625389	C	T	FGF3				NC_000011.9:g.69625389C>T	VUS	1 lab	281db82fdd
20:33584248 MYH7B G>A	20	33584248	33584248	G	A	MYH7B	c.3169G>A	NM_020884.4	NP_065935.3:p.(Gly1057Ser)	NC_000020.10:g.33584248G>A	VUS	1 lab	281e3e91ad
17:2577510 PAFAH1B1 GCAT>G	17	2577510	2577513	GCAT	G	PAFAH1B1	c.829_831del	NM_000430.4	NP_000421.1:p.(His277del)	NC_000017.10:g.2577511_2577513del	(Likely) pathogenic	1 lab	281fe6c278
19:33417105 CEP89 G>A	19	33417105	33417105	G	A	CEP89	c.1155C>T	NM_032816.5	NP_116205.3:p.(Ala385=)	NC_000019.9:g.33417105G>A	(Likely) benign	1 lab	28203abb16
10:102770416 PDZD7 G>T	10	102770416	102770416	G	T	PDZD7	c.2230C>A	NM_001195263.1	NP_001182192.1:p.(Arg744=)	NC_000010.10:g.102770416G>T	(Likely) benign	1 lab	2820f2d9a0
10:123353309 FGFR2 A>C	10	123353309	123353309	A	C	FGFR2	c.23T>G	NM_000141.4	NP_000132.3:p.(Ile8Ser)	NC_000010.10:g.123353309A>C	(Likely) benign	1 lab	28217122a8
22:38565277 PLA2G6 G>A	22	38565277	38565277	G	A	PLA2G6	c.157C>T	NM_001349864.1	NP_001336793.1:p.(Arg53Cys)	NC_000022.10:g.38565277G>A	VUS	1 lab	28218d1285
6:87967405 ZNF292 G>A	6	87967405	87967405	G	A	ZNF292	c.4058G>A	NM_015021.3	NP_055836.1:p.(Gly1353Glu)	NC_000006.11:g.87967405G>A	(Likely) benign	1 lab	e766029852
4:123868393 AFG2A A>C	4	123868393	123868393	A	C	AFG2A	c.1464A>C	NM_145207.2	NP_660208.2:p.(Val488=)	NC_000004.11:g.123868393A>C	VUS	1 lab	28234ba5d8
12:21995308 ABCC9 G>A	12	21995308	21995308	G	A	ABCC9	c.3413C>T	NM_005691.4	NP_005682.2:p.(Ala1138Val)	NC_000012.11:g.21995308G>A	VUS	1 lab	e766f4629c
X:118222024 KIAA1210 G>T	X	118222024	118222024	G	T	KIAA1210	c.3169C>A	NM_020721.1	NP_065772.1:p.(Pro1057Thr)	NC_000023.10:g.118222024G>T	(Likely) benign	1 lab	2823befde3
14:74004508 ACOT1 A>G	14	74004508	74004508	A	G	ACOT1	c.383A>G	NM_001037161.2	NP_001032238.1:p.(Tyr128Cys)	NC_000014.8:g.74004508A>G	(Likely) benign	1 lab	2823e110b0
1:197072256 ASPM T>C	1	197072256	197072256	T	C	ASPM	c.6125A>G	NM_018136.4	NP_060606.3:p.(Asp2042Gly)	NC_000001.10:g.197072256T>C	(Likely) benign	1 lab	282590fc23
17:4908266 KIF1C C>G	17	4908266	4908266	C	G	KIF1C	c.1136C>G	NM_006612.5	NP_006603.2:p.(Ala379Gly)	NC_000017.10:g.4908266C>G	VUS	1 lab	283f1a7dfe
2:166737261 TTC21B G>A	2	166737261	166737261	G	A	TTC21B	c.3733C>T	NM_024753.5	NP_079029.3:p.(Gln1245Ter)	NC_000002.11:g.166737261G>A	(Likely) pathogenic	1 lab	e767735533
16:68712423 CDH3 G>A	16	68712423	68712423	G	A	CDH3	c.410G>A	NM_001793.5	NP_001784.2:p.(Arg137Lys)	NC_000016.9:g.68712423G>A	(Likely) benign	1 lab	28278f8354
5:13867949 DNAH5 T>C	5	13867949	13867949	T	C	DNAH5	c.3987A>G	NM_001369.2	NP_001360.1:p.(Lys1329=)	NC_000005.9:g.13867949T>C	(Likely) benign	1 lab	282d71b752
19:41930367 BCKDHA G>A	19	41930367	41930367	G	A	BCKDHA	c.1192G>A	NM_000709.3	NP_000700.1:p.(Glu398Lys)	NC_000019.9:g.41930367G>A	VUS	1 lab	282ec4cd5a
8:145741283 RECQL4 T>C	8	145741283	145741283	T	C	RECQL4	c.1132-9A>G	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145741283T>C	(Likely) benign	1 lab	282f1896a4
22:18566212 PEX26 A>G	22	18566212	18566212	A	G	PEX26	c.381A>G	NM_001127649.2	NP_001121121.1:p.(Leu127=)	NC_000022.10:g.18566212A>G	(Likely) benign	1 lab	282f73cb80
4:43022370 GRXCR1 G>C	4	43022370	43022370	G	C	GRXCR1	c.628-1G>C	NM_001080476.2	NP_001073945.1:p.?	NC_000004.11:g.43022370G>C	(Likely) pathogenic	1 lab	282fcbb229
11:118955777 HMBS G>A	11	118955777	118955777	G	A	HMBS	c.33+1G>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118955777G>A	(Likely) pathogenic	1 lab	2830791cdb
1:65243311 RAVER2 G>T	1	65243311	65243311	G	T	RAVER2	c.322G>T	NM_001366165.1	NP_001353094.1:p.(Val108Phe)	NC_000001.10:g.65243311G>T	VUS	1 lab	2830e04fbf
10:86018269 RGR C>A	10	86018269	86018269	C	A	RGR	c.762C>A	NM_002921.3	NP_002912.2:p.(Pro254=)	NC_000010.10:g.86018269C>A	(Likely) benign	1 lab	28318be00f
X:50350902 SHROOM4 G>T	X	50350902	50350902	G	T	SHROOM4	c.3240C>A	NM_020717.3	NP_065768.2:p.(Leu1080=)	NC_000023.10:g.50350902G>T	(Likely) benign	1 lab	2833b8712e
21:36079601 CLIC6 C>T	21	36079601	36079601	C	T	CLIC6	c.1452C>T	NM_001317009.1	NP_001303938.1:p.(Ile484=)	NC_000021.8:g.36079601C>T	(Likely) benign	1 lab	2834163102
13:39454626 FREM2 G>A	13	39454626	39454626	G	A	FREM2	c.9212G>A	NM_207361.5	NP_997244.4:p.(Arg3071Gln)	NC_000013.10:g.39454626G>A	VUS	1 lab	2835cb2769
20:61978115 CHRNA4 G>A	20	61978115	61978115	G	A	CHRNA4	c.1859C>T	NM_000744.6	NP_000735.1:p.(Pro620Leu)	NC_000020.10:g.61978115G>A	VUS	1 lab	283623b2b5
20:34025244 GDF5 T>TG	20	34025244	34025249	T	TG	GDF5	c.464dup	NM_000557.4	NP_000548.2:p.(Arg156ThrfsTer29)	NC_000020.10:g.34025249dup	(Likely) pathogenic	1 lab	2837a8fe38
20:42744532 JPH2 C>T	20	42744532	42744532	C	T	JPH2	c.1783G>A	NM_020433.4	NP_065166.2:p.(Ala595Thr)	NC_000020.10:g.42744532C>T	(Likely) benign	1 lab	28380424df
1:201184752 IGFN1 C>A	1	201184752	201184752	C	A	IGFN1	c.9081C>A	NM_001164586.1	NP_001158058.1:p.(Ile3027=)	NC_000001.10:g.201184752C>A	(Likely) benign	1 lab	28385628b3
3:49569645 DAG1 C>T	3	49569645	49569645	C	T	DAG1	c.1701C>T	NM_001165928.3	NP_001159400.2:p.(Ser567=)	NC_000003.11:g.49569645C>T	(Likely) benign	1 lab	283b746efe
14:68252651 ZFYVE26 A>G	14	68252651	68252651	A	G	ZFYVE26	c.3228T>C	NM_015346.3	NP_056161.2:p.(Cys1076=)	NC_000014.8:g.68252651A>G	(Likely) benign	1 lab	283ca2568d
X:114141154 HTR2C G>A	X	114141154	114141154	G	A	HTR2C	c.553G>A	NM_001256760.2	NP_001243689.1:p.(Val185Ile)	NC_000023.10:g.114141154G>A	(Likely) benign	1 lab	283d060617
16:72003926 PKD1L3 C>T	16	72003926	72003926	C	T	PKD1L3	c.2032G>A	NM_181536.1	NP_853514.1:p.(Val678Met)	NC_000016.9:g.72003926C>T	VUS	1 lab	283da5b95c
9:140850264 CACNA1B G>A	9	140850264	140850264	G	A	CACNA1B	c.1185G>A	NM_000718.4	NP_000709.1:p.(Ala395=)	NC_000009.11:g.140850264G>A	(Likely) benign	1 lab	e76819505e
10:17142211 CUBN G>A	10	17142211	17142211	G	A	CUBN	c.1558C>T	NM_001081.3	NP_001072.2:p.(Arg520Trp)	NC_000010.10:g.17142211G>A	VUS	1 lab	283df6bf93
20:10625819 JAG1 G>A	20	10625819	10625819	G	A	JAG1	c.2199C>T	NM_000214.3	NP_000205.1:p.(Gly733=)	NC_000020.10:g.10625819G>A	(Likely) benign	1 lab	283ef046c2
21:34925574 SON C>T	21	34925574	34925574	C	T	SON	c.4037C>T	NM_138927.2	NP_620305.2:p.(Pro1346Leu)	NC_000021.8:g.34925574C>T	(Likely) benign	1 lab	283fe07a19
1:97700445 DPYD C>A	1	97700445	97700445	C	A	DPYD	c.2405G>T	NM_000110.4	NP_000101.2:p.(Gly802Val)	NC_000001.10:g.97700445C>A	VUS	1 lab	e76b46bd88
9:137622234 COL5A1 G>A	9	137622234	137622234	G	A	COL5A1	c.1077G>A	NM_000093.4	NP_000084.3:p.(Glu359=)	NC_000009.11:g.137622234G>A	(Likely) benign	1 lab	2840608aab
17:35603767 ACACA G>A	17	35603767	35603767	G	A	ACACA	c.2324C>T	NM_198839.2	NP_942136.1:p.(Ala775Val)	NC_000017.10:g.35603767G>A	(Likely) benign	1 lab	284200631b
1:16256691 SPEN A>C	1	16256691	16256691	A	C	SPEN	c.3956A>C	NM_015001.3	NP_055816.2:p.(Gln1319Pro)	NC_000001.10:g.16256691A>C	VUS	1 lab	e76b94c310
X:48340873 FTSJ1 G>A	X	48340873	48340873	G	A	FTSJ1	c.732G>A	NM_177439.2	NP_803188.1:p.(Ser244=)	NC_000023.10:g.48340873G>A	(Likely) benign	1 lab	28446805f7
19:41114155 LTBP4 C>G	19	41114155	41114155	C	G	LTBP4	c.1387C>G	NM_001042544.1	NP_001036009.1:p.(Pro463Ala)	NC_000019.9:g.41114155C>G	VUS	1 lab	2845c07ef0
16:3594282 NLRC3 C>T	16	3594282	3594282	C	T	NLRC3	c.2819G>A	NM_178844.3	NP_849172.2:p.(Arg940His)	NC_000016.9:g.3594282C>T	(Likely) benign	1 lab	28474adb4b
8:116616609 TRPS1 C>T	8	116616609	116616609	C	T	TRPS1	c.1587G>A	NM_014112.4	NP_054831.2:p.(Glu529=)	NC_000008.10:g.116616609C>T	(Likely) benign	1 lab	284844693a
17:29533298 NF1 G>TT	17	29533298	29533298	G	TT	NF1	c.1301delinsTT	NM_000267.3	NP_000258.1:p.(Cys434PhefsTer5)	NC_000017.10:g.29533298delinsTT	(Likely) pathogenic	1 lab	28490ae488
13:32910757 BRCA2 C>T	13	32910757	32910757	C	T	BRCA2	c.2265C>T	NM_000059.3	NP_000050.2:p.(Ser755=)	NC_000013.10:g.32910757C>T	(Likely) benign	1 lab	28498c1229
2:85604554 ELMOD3 C>T	2	85604554	85604554	C	T	ELMOD3	c.695C>T	NM_001329791.1	NP_001316720.1:p.(Pro232Leu)	NC_000002.11:g.85604554C>T	(Likely) benign	1 lab	2849bd9905
3:48508970 TREX1 G>A	3	48508970	48508970	G	A	TREX1	c.916G>A	NM_033629.6	NP_338599.1:p.(Gly306Arg)	NC_000003.11:g.48508970G>A	VUS	1 lab	284f54b70b
15:62199488 VPS13C T>C	15	62199488	62199488	T	C	VPS13C	c.9080A>G	NM_001018088.2	NP_001018098.1:p.(Asn3027Ser)	NC_000015.9:g.62199488T>C	(Likely) benign	1 lab	2852981910
7:92199211 FAM133B T>G	7	92199211	92199211	T	G	FAM133B	c.505A>C	NM_001040057.2	NP_001035146.1:p.(Lys169Gln)	NC_000007.13:g.92199211T>G	VUS	1 lab	2852cb0f1b
11:68204381 LRP5 G>C	11	68204381	68204381	G	C	LRP5	c.2282G>C	NM_001291902.1	NP_001278831.1:p.(Arg761Pro)	NC_000011.9:g.68204381G>C	VUS	1 lab	2853f4ef09
17:48678081 CACNA1G C>G	17	48678081	48678081	C	G	CACNA1G	c.3691-6C>G	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48678081C>G	(Likely) benign	1 lab	2854210265
21:33709826 URB1 G>A	21	33709826	33709826	G	A	URB1	c.4511-3C>T	NM_014825.3	NP_055640.2:p.?	NC_000021.8:g.33709826G>A	(Likely) benign	1 lab	2867e74a2b
17:29670019 NF1 TTTA>T	17	29670019	29670022	TTTA	T	NF1	c.7063-7_7063-5del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29670020_29670022del	(Likely) pathogenic	1 lab	28554e8ef0
14:89338739 TTC8 C>T	14	89338739	89338739	C	T	TTC8	c.1338C>T	NM_001288781.1	NP_001275710.1:p.(His446=)	NC_000014.8:g.89338739C>T	(Likely) benign	1 lab	2858097878
X:76938423 ATRX A>G	X	76938423	76938423	A	G	ATRX	c.2325T>C	NM_000489.5	NP_000480.3:p.(Asp775=)	NC_000023.10:g.76938423A>G	(Likely) benign	1 lab	285a6517a2
9:101909826 TGFBR1 T>TA	9	101909826	101909827	T	TA	TGFBR1	c.1256-109dup	NM_004612.3	NP_004603.1:p.?	NC_000009.11:g.101909827dup	(Likely) benign	1 lab	285b10950d
11:70331881 SHANK2 G>A	11	70331881	70331881	G	A	SHANK2	c.4517C>T	NM_012309.4	NP_036441.2:p.(Thr1506Met)	NC_000011.9:g.70331881G>A	VUS	1 lab	285b450b50
10:90701557 ACTA2 A>G	10	90701557	90701557	A	G	ACTA2	c.439T>C	NM_001613.2	NP_001604.1:p.(Ser147Pro)	NC_000010.10:g.90701557A>G	(Likely) benign	1 lab	285f117279
11:26574783 ANO3 G>T	11	26574783	26574783	G	T	ANO3	c.1290-13G>T	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26574783G>T	(Likely) benign	1 lab	e76dc9f5e2
18:44140040 LOXHD1 A>C	18	44140040	44140040	A	C	LOXHD1	c.3061+6T>G	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44140040A>C	VUS	1 lab	2864190e0d
17:36482500 GPR179 G>A	17	36482500	36482500	G	A	GPR179	c.6952C>T	NM_001004334.3	NP_001004334.3:p.(Leu2318Phe)	NC_000017.10:g.36482500G>A	VUS	1 lab	2866239578
3:148901252 CP C>T	3	148901252	148901252	C	T	CP	c.2425+1G>A	NM_000096.3	NP_000087.1:p.?	NC_000003.11:g.148901252C>T	(Likely) pathogenic	1 lab	28668ba7a7
16:2106654 TSC2 C>T	16	2106654	2106654	C	T	TSC2	c.658C>T	NM_000548.3	NP_000539.2:p.(Gln220Ter)	NC_000016.9:g.2106654C>T	(Likely) pathogenic	1 lab	286698a53c
3:184033610 EIF4G1 G>GCC	3	184033610	184033616	G	GCC	EIF4G1	c.31_32dup	NM_182917.4	NP_886553.3:p.(Pro12HisfsTer31)	NC_000003.11:g.184033615_184033616dup	(Likely) benign	1 lab	286927829f
15:101528997 LRRK1 C>T	15	101528997	101528997	C	T	LRRK1	c.592C>T	NM_024652.5	NP_078928.3:p.(Leu198=)	NC_000015.9:g.101528997C>T	(Likely) benign	1 lab	286982fbd8
15:25615781 UBE3A G>A	15	25615781	25615781	G	A	UBE3A	c.1480C>T	NM_130838.1	NP_570853.1:p.(Gln494Ter)	NC_000015.9:g.25615781G>A	(Likely) pathogenic	1 lab	2869e7b88a
5:125807976 GRAMD2B C>T	5	125807976	125807976	C	T	GRAMD2B	c.386C>T	NM_001146321.2	NP_001139793.1:p.(Thr129Met)	NC_000005.9:g.125807976C>T	(Likely) benign	1 lab	286a1f881d
17:60108839 MED13 A>T	17	60108839	60108839	A	T	MED13	c.975T>A	NM_005121.2	NP_005112.2:p.(Leu325=)	NC_000017.10:g.60108839A>T	(Likely) benign	1 lab	286aae6bff
22:45939294 FBLN1 C>T	22	45939294	45939294	C	T	FBLN1	c.1209C>T	NM_006486.2	NP_006477.2:p.(Cys403=)	NC_000022.10:g.45939294C>T	(Likely) benign	1 lab	286b1e0402
3:14200152 XPC TCTC>T	3	14200152	14200157	TCTC	T	XPC	c.1228_1230del	NM_004628.5	NP_004619.3:p.(Glu410del)	NC_000003.11:g.14200155_14200157del	VUS	1 lab	286bb1aeab
1:151315467 RFX5 G>C	1	151315467	151315467	G	C	RFX5	c.1046C>G	NM_000449.3	NP_000440.1:p.(Pro349Arg)	NC_000001.10:g.151315467G>C	VUS	1 lab	286bed22e1
15:30381246 GOLGA8J G>A	15	30381246	30381246	G	A	GOLGA8J	c.786+3G>A	NM_001282472.1	NP_001269401.1:p.?	NC_000015.9:g.30381246G>A	(Likely) benign	1 lab	286c49efcf
19:13220653 TRMT1 C>T	19	13220653	13220653	C	T	TRMT1	c.1107-1G>A	NM_017722.4	NP_060192.1:p.?	NC_000019.9:g.13220653C>T	VUS	1 lab	286cbe097e
18:34310715 FHOD3 A>C	18	34310715	34310715	A	C	FHOD3	c.2999A>C	NM_025135.5	NP_079411.2:p.(Lys1000Thr)	NC_000018.9:g.34310715A>C	VUS	1 lab	e773cb04fb
22:45132783 PRR5 G>A	22	45132783	45132783	G	A	PRR5	c.892G>A	NM_001198721.1	NP_001185650.1:p.(Gly298Ser)	NC_000022.10:g.45132783G>A	(Likely) benign	1 lab	286ef250b2
15:77064249 SCAPER C>T	15	77064249	77064249	C	T	SCAPER	c.1082G>A	NM_001353009.1	NP_001339938.1:p.(Arg361Gln)	NC_000015.9:g.77064249C>T	(Likely) benign	1 lab	28709ee4c0
3:147131192 ZIC1 G>C	3	147131192	147131192	G	C	ZIC1	c.1198G>C	NM_003412.3	NP_003403.2:p.(Gly400Arg)	NC_000003.11:g.147131192G>C	VUS	1 lab	2874fe9ecc
15:52632474 MYO5A G>C	15	52632474	52632474	G	C	MYO5A	c.4158C>G	NM_000259.3	NP_000250.3:p.(Ala1386=)	NC_000015.9:g.52632474G>C	(Likely) benign	1 lab	2875ec5118
11:76873966 MYO7A C>T	11	76873966	76873966	C	T	MYO7A	c.1622C>T	NM_000260.3	NP_000251.3:p.(Pro541Leu)	NC_000011.9:g.76873966C>T	VUS	1 lab	2876f63206
7:82785497 PCLO G>T	7	82785497	82785497	G	T	PCLO	c.460C>A	NM_033026.5	NP_149015.2:p.(Pro154Thr)	NC_000007.13:g.82785497G>T	(Likely) benign	1 lab	28790f2564
20:2083621 STK35 G>A	20	2083621	2083621	G	A	STK35	c.502G>A	NM_080836.3	NP_543026.2:p.(Ala168Thr)	NC_000020.10:g.2083621G>A	(Likely) benign	1 lab	287a33281d
X:102192318 RAB40AL C>T	X	102192318	102192318	C	T	RAB40AL	c.72C>T	NM_001031834.1	NP_001027004.1:p.(Asp24=)	NC_000023.10:g.102192318C>T	(Likely) benign	1 lab	287a4d7495
11:126294763 KIRREL3 G>T	11	126294763	126294763	G	T	KIRREL3	c.2049C>A	NM_032531.3	NP_115920.1:p.(Ser683Arg)	NC_000011.9:g.126294763G>T	VUS	1 lab	287b022a8a
16:23722287 ERN2 C>G	16	23722287	23722287	C	G	ERN2	c.146G>C	NM_033266.4	NP_150296.4:p.(Ser49Thr)	NC_000016.9:g.23722287C>G	(Likely) benign	1 lab	287b77622d
9:141016024 CACNA1B G>A	9	141016024	141016024	G	A	CACNA1B	c.6593G>A	NM_000718.3	NP_000709.1:p.(Arg2198His)	NC_000009.11:g.141016024G>A	VUS	1 lab	287b8e02b8
11:44148381 EXT2 GT>G	11	44148381	44148382	GT	G	EXT2	c.956del	NM_207122.2	NP_997005.1:p.(Val319GlyfsTer13)	NC_000011.9:g.44148382del	(Likely) pathogenic	1 lab	287cbeaa26
9:139904302 ABCA2 C>T	9	139904302	139904302	C	T	ABCA2	c.6639G>A	NM_212533.2	NP_997698.1:p.(Pro2213=)	NC_000009.11:g.139904302C>T	(Likely) benign	1 lab	287ee505c9
10:96580269 CYP2C19 A>C	10	96580269	96580269	A	C	CYP2C19	c.836A>C	NM_000769.4	NP_000760.1:p.(Gln279Pro)	NC_000010.10:g.96580269A>C	(Likely) benign	1 lab	288055852e
1:201332413 TNNT2 T>C	1	201332413	201332413	T	C	TNNT2	c.570+11A>G	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201332413T>C	(Likely) benign	1 lab	2880fa0a8d
1:12942007 PRAMEF4 G>A	1	12942007	12942007	G	A	PRAMEF4	c.543C>T	NM_001009611.4	NP_001009611.2:p.(His181=)	NC_000001.10:g.12942007G>A	(Likely) benign	1 lab	2882940bc7
3:64672566 ADAMTS9 G>C	3	64672566	64672566	G	C	ADAMTS9	c.194C>G	NM_182920.2	NP_891550.1:p.(Thr65Arg)	NC_000003.11:g.64672566G>C	VUS	1 lab	2882f9205f
17:29548875 NF1 T>C	17	29548875	29548875	T	C	NF1	c.1649T>C	NM_000267.3	NP_000258.1:p.(Leu550Pro)	NC_000017.10:g.29548875T>C	(Likely) pathogenic	1 lab	28838e266e
10:21134189 NEBL C>A	10	21134189	21134189	C	A	NEBL	c.1225G>T	NM_006393.2	NP_006384.1:p.(Glu409Ter)	NC_000010.10:g.21134189C>A	VUS	1 lab	2884f97cb1
X:133938126 PABIR3 T>A	X	133938126	133938126	T	A	PABIR3	c.-97-5T>A	NM_001170780.1	NP_001164251.1:p.?	NC_000023.10:g.133938126T>A	(Likely) benign	1 lab	28851b394d
3:132172252 DNAJC13 G>T	3	132172252	132172252	G	T	DNAJC13	c.648G>T	NM_015268.4	NP_056083.3:p.(Glu216Asp)	NC_000003.11:g.132172252G>T	VUS	1 lab	2885479ffc
X:66766127 AR C>G	X	66766127	66766127	C	G	AR	c.1139C>G	NM_000044.4	NP_000035.2:p.(Pro380Arg)	NC_000023.10:g.66766127C>G	VUS	1 lab	288550156e
2:27460732 CAD C>T	2	27460732	27460732	C	T	CAD	c.4710C>T	NM_004341.4	NP_004332.2:p.(Ser1570=)	NC_000002.11:g.27460732C>T	(Likely) benign	1 lab	288691aed4
1:240371022 FMN2 T>A	1	240371022	240371022	T	A	FMN2	c.2922T>A	NM_001305424.1	NP_001292353.1:p.(Leu974=)	NC_000001.10:g.240371022T>A	(Likely) benign	1 lab	2888636d9c
20:409676 RBCK1 C>T	20	409676	409676	C	T	RBCK1	c.1264C>T	NM_006462.5	NP_006453.1:p.(Arg422Cys)	NC_000020.10:g.409676C>T	(Likely) benign	1 lab	2888c12ca0
17:27061971 NEK8 C>T	17	27061971	27061971	C	T	NEK8	c.435C>T	NM_178170.3	NP_835464.1:p.(Ile145=)	NC_000017.10:g.27061971C>T	(Likely) benign	1 lab	2888f4eef7
6:157527628 ARID1B G>A	6	157527628	157527628	G	A	ARID1B	c.5353G>A	NM_020732.3	NP_065783.3:p.(Asp1785Asn)	NC_000006.11:g.157527628G>A	VUS	1 lab	28893b5e24
15:57524982 TCF12 G>A	15	57524982	57524982	G	A	TCF12	c.898G>A	NM_207037.1	NP_996920.1:p.(Gly300Ser)	NC_000015.9:g.57524982G>A	(Likely) benign	1 lab	2889668c33
2:179610674 TTN CT>C	2	179610674	179610677	CT	C	TTN	c.16452del	NM_133379.5	NP_596870.2:p.(Val5485Ter)	NC_000002.11:g.179610677del	VUS	1 lab	e77e0512a5
8:61736445 CHD7 C>CAT	8	61736445	61736447	C	CAT	CHD7	c.3249_3250dup	NM_017780.2	NP_060250.2:p.(Phe1084TyrfsTer4)	NC_000008.10:g.61736446_61736447dup	(Likely) pathogenic	1 lab	288b5d293b
17:41244628 BRCA1 A>C	17	41244628	41244628	A	C	BRCA1	c.2920T>G	NM_007294.3	NP_009225.1:p.(Leu974Val)	NC_000017.10:g.41244628A>C	(Likely) benign	1 lab	288dd68868
14:105417251 AHNAK2 C>T	14	105417251	105417251	C	T	AHNAK2	c.4537G>A	NM_138420.3	NP_612429.2:p.(Glu1513Lys)	NC_000014.8:g.105417251C>T	(Likely) benign	1 lab	288e52293f
22:32498055 SLC5A1 G>A	22	32498055	32498055	G	A	SLC5A1	c.1496G>A	NM_000343.3	NP_000334.1:p.(Arg499His)	NC_000022.10:g.32498055G>A	VUS	1 lab	28909c7272
8:17814915 PCM1 A>G	8	17814915	17814915	A	G	PCM1	c.1789A>G	NM_006197.4	NP_006188.4:p.(Met597Val)	NC_000008.10:g.17814915A>G	(Likely) benign	1 lab	e77f3ad933
8:31012276 WRN G>C	8	31012276	31012276	G	C	WRN	c.3819+5G>C	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.31012276G>C	VUS	1 lab	2890fd446c
15:90320134 MESP2 AGGGCAGGGGCAG>A	15	90320134	90320157	AGGGCAGGGGCAG	A	MESP2	c.558_569del	NM_001039958.2	NP_001035047.1:p.(Gln202_Gly205del)	NC_000015.9:g.90320146_90320157del	(Likely) benign	1 lab	28914f15e0
18:56279002 ALPK2 G>A	18	56279002	56279002	G	A	ALPK2	c.28C>T	NM_052947.4	NP_443179.3:p.(Pro10Ser)	NC_000018.9:g.56279002G>A	(Likely) benign	1 lab	2891baaa1c
6:65622514 EYS C>T	6	65622514	65622514	C	T	EYS	c.2504G>A	NM_001292009.1	NP_001278938.1:p.(Cys835Tyr)	NC_000006.11:g.65622514C>T	VUS	1 lab	2891ffdefc
17:29490349 NF1 T>C	17	29490349	29490349	T	C	NF1	c.434T>C	NM_000267.3	NP_000258.1:p.(Leu145Pro)	NC_000017.10:g.29490349T>C	(Likely) pathogenic	1 lab	2892a66725
14:64520322 SYNE2 C>T	14	64520322	64520322	C	T	SYNE2	c.9691C>T	NM_182914.2	NP_878918.2:p.(Arg3231Cys)	NC_000014.8:g.64520322C>T	VUS	1 lab	28931da258
11:103175465 DYNC2H1 T>TGTG	11	103175465	103175468	T	TGTG	DYNC2H1	c.11403+18_11403+19insGGT	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103175467_103175468insGGT	(Likely) benign	1 lab	2893a0ae20
11:46725939 ZNF408 A>G	11	46725939	46725939	A	G	ZNF408	c.689A>G	NM_024741.2	NP_079017.1:p.(Glu230Gly)	NC_000011.9:g.46725939A>G	VUS	1 lab	2893ab5bb9
6:170153962 ERMARD A>C	6	170153962	170153962	A	C	ERMARD	c.9A>C	NM_018341.2	NP_060811.1:p.(Val3=)	NC_000006.11:g.170153962A>C	(Likely) benign	1 lab	289633ad93
10:48388388 RBP3 G>A	10	48388388	48388388	G	A	RBP3	c.2490C>T	NM_002900.2	NP_002891.1:p.(Ala830=)	NC_000010.10:g.48388388G>A	(Likely) benign	1 lab	2896973d0e
15:80806696 ARNT2 A>G	15	80806696	80806696	A	G	ARNT2	c.827A>G	NM_014862.4	NP_055677.3:p.(Gln276Arg)	NC_000015.9:g.80806696A>G	VUS	1 lab	2897613e5c
15:33952400 RYR3 C>T	15	33952400	33952400	C	T	RYR3	c.4398C>T	NM_001036.4	NP_001027.3:p.(Asn1466=)	NC_000015.9:g.33952400C>T	(Likely) benign	1 lab	2897832ed1
14:21859640 CHD8 A>T	14	21859640	21859640	A	T	CHD8	c.7047T>A	NM_001170629.1	NP_001164100.1:p.(Val2349=)	NC_000014.8:g.21859640A>T	(Likely) benign	1 lab	2898b0fcae
15:86806095 AGBL1 G>T	15	86806095	86806095	G	T	AGBL1	c.1056G>T	NM_152336.3	NP_689549.3:p.(Val352=)	NC_000015.9:g.86806095G>T	(Likely) benign	1 lab	28990d9cd9
13:25458567 CPAP A>G	13	25458567	25458567	A	G	CPAP	c.3512T>C	NM_018451.4	NP_060921.3:p.(Ile1171Thr)	NC_000013.10:g.25458567A>G	VUS	1 lab	28994f38b7
X:102864452 TCEAL3 A>G	X	102864452	102864452	A	G	TCEAL3	c.460A>G	NM_001006933.1	NP_001006934.1:p.(Arg154Gly)	NC_000023.10:g.102864452A>G	VUS	1 lab	289ae1dda3
16:2122854 TSC2 C>G	16	2122854	2122854	C	G	TSC2	c.2225C>G	NM_000548.3	NP_000539.2:p.(Ser742Ter)	NC_000016.9:g.2122854C>G	(Likely) pathogenic	1 lab	289cf70fb1
7:1543543 INTS1 G>A	7	1543543	1543543	G	A	INTS1	c.54C>T	NM_001080453.3	NP_001073922.2:p.(Pro18=)	NC_000007.13:g.1543543G>A	(Likely) benign	1 lab	289db3334b
14:105418115 AHNAK2 C>T	14	105418115	105418115	C	T	AHNAK2	c.3673G>A	NM_138420.3	NP_612429.2:p.(Gly1225Ser)	NC_000014.8:g.105418115C>T	(Likely) benign	1 lab	289f07cfc2
9:135781426 TSC1 TG>T	9	135781426	135781429	TG	T	TSC1	c.1538del	NM_000368.5	NP_000359.1:p.(Pro513GlnfsTer19)	NC_000009.11:g.135781429del	(Likely) pathogenic	1 lab	289fac4c18
10:26432389 MYO3A A>T	10	26432389	26432389	A	T	MYO3A	c.2275A>T	NM_017433.5	NP_059129.3:p.(Asn759Tyr)	NC_000010.10:g.26432389A>T	VUS	1 lab	28a00c46f9
17:76128900 TMC8 G>A	17	76128900	76128900	G	A	TMC8	c.480G>A	NM_152468.4	NP_689681.2:p.(Pro160=)	NC_000017.10:g.76128900G>A	(Likely) benign	1 lab	28a03025a1
19:5720087 LONP1 C>G	19	5720087	5720087	C	G	LONP1	c.57G>C	NM_004793.3	NP_004784.2:p.(Leu19=)	NC_000019.9:g.5720087C>G	(Likely) benign	1 lab	28a058dc5c
2:15614217 NBAS T>A	2	15614217	15614217	T	A	NBAS	c.1573A>T	NM_015909.3	NP_056993.2:p.(Thr525Ser)	NC_000002.11:g.15614217T>A	VUS	1 lab	28a107e37d
18:6958518 LAMA1 C>T	18	6958518	6958518	C	T	LAMA1	c.7922G>A	NM_005559.3	NP_005550.2:p.(Arg2641Lys)	NC_000018.9:g.6958518C>T	(Likely) benign	1 lab	28a118df78
10:75868879 VCL C>G	10	75868879	75868879	C	G	VCL	c.2710C>G	NM_014000.3	NP_054706.1:p.(Gln904Glu)	NC_000010.10:g.75868879C>G	VUS	1 lab	e77fcdeb7f
14:50101170 DNAAF2 G>T	14	50101170	50101170	G	T	DNAAF2	c.698C>A	NM_018139.2	NP_060609.2:p.(Ala233Asp)	NC_000014.8:g.50101170G>T	VUS	1 lab	28a6a04161
3:129214369 IFT122 C>T	3	129214369	129214369	C	T	IFT122	c.2280C>T	NM_052985.3	NP_443711.2:p.(Ala760=)	NC_000003.11:g.129214369C>T	(Likely) benign	1 lab	28a6ab91c6
X:38147282 RPGR T>C	X	38147282	38147282	T	C	RPGR	c.1585A>G	NM_001034853.1	NP_001030025.1:p.(Ile529Val)	NC_000023.10:g.38147282T>C	(Likely) benign	1 lab	28a73c2bb5
19:15366887 BRD4 TTGC>T	19	15366887	15366894	TTGC	T	BRD4	c.1736_1738del	NM_058243.3	NP_490597.1:p.(Ser579del)	NC_000019.9:g.15366892_15366894del	VUS	1 lab	e7806e1f38
16:3786772 CREBBP T>C	16	3786772	3786772	T	C	CREBBP	c.4439A>G	NM_004380.3	NP_004371.2:p.(Asp1480Gly)	NC_000016.9:g.3786772T>C	VUS	1 lab	e781e159d3
16:57689385 ADGRG1 CG>GC	16	57689385	57689386	CG	GC	ADGRG1	c.843_844delinsGC	NM_005682.6	NP_005673.3:p.(Ser281_Gly282delinsArgArg)	NC_000016.9:g.57689385_57689386delinsGC	VUS	1 lab	28a93cfc6d
1:94645396 ARHGAP29 A>AT	1	94645396	94645402	A	AT	ARHGAP29	c.2364dup	NM_004815.4	NP_004806.3:p.(Trp789MetfsTer28)	NC_000001.10:g.94645402dup	(Likely) pathogenic	1 lab	e783dbc3a6
16:89251693 CDH15 C>T	16	89251693	89251693	C	T	CDH15	c.615C>T	NM_004933.2	NP_004924.1:p.(Asp205=)	NC_000016.9:g.89251693C>T	(Likely) benign	1 lab	28a9d7c2bf
15:101438314 ALDH1A3 G>A	15	101438314	101438314	G	A	ALDH1A3	c.807G>A	NM_000693.3	NP_000684.2:p.(Ala269=)	NC_000015.9:g.101438314G>A	(Likely) benign	1 lab	28ac116aa0
1:204197346 PLEKHA6 C>A	1	204197346	204197346	C	A	PLEKHA6	c.2896G>T	NM_014935.5	NP_055750.2:p.(Val966Leu)	NC_000001.10:g.204197346C>A	VUS	1 lab	28ac79f68c
8:48852230 PRKDC C>T	8	48852230	48852230	C	T	PRKDC	c.994G>A	NM_006904.6	NP_008835.5:p.(Glu332Lys)	NC_000008.10:g.48852230C>T	VUS	1 lab	28ae714944
4:183245195 TENM3 C>A	4	183245195	183245195	C	A	TENM3	c.22C>A	NM_001080477.3	NP_001073946.1:p.(Pro8Thr)	NC_000004.11:g.183245195C>A	VUS	1 lab	28aefc71be
17:29556030 NF1 A>G	17	29556030	29556030	A	G	NF1	c.2410-13A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556030A>G	(Likely) pathogenic	1 lab	28af8257ef
X:39922226 BCOR T>C	X	39922226	39922226	T	C	BCOR	c.3946A>G	NM_001123385.1	NP_001116857.1:p.(Arg1316Gly)	NC_000023.10:g.39922226T>C	VUS	1 lab	28b132e3b8
17:29556136 NF1 C>T	17	29556136	29556136	C	T	NF1	c.2503C>T	NM_000267.3	NP_000258.1:p.(Gln835Ter)	NC_000017.10:g.29556136C>T	(Likely) pathogenic	1 lab	28bdc77d63
4:3494969 DOK7 GC>G	4	3494969	3494976	GC	G	DOK7	c.1263del	NM_173660.5	NP_775931.3:p.(Ser422HisfsTer34)	NC_000004.11:g.3494976del	VUS	1 lab	28b3050daf
15:62211517 VPS13C T>C	15	62211517	62211517	T	C	VPS13C	c.7609A>G	NM_001018088.2	NP_001018098.1:p.(Lys2537Glu)	NC_000015.9:g.62211517T>C	VUS	1 lab	28b3390972
16:30748767 SRCAP C>A	16	30748767	30748767	C	A	SRCAP	c.7406C>A	NM_006662.2	NP_006653.2:p.(Ser2469Ter)	NC_000016.9:g.30748767C>A	(Likely) pathogenic	1 lab	28b3bd281f
9:98775171 ERCC6L2 G>A	9	98775171	98775171	G	A	ERCC6L2	c.4372G>A	NM_020207.4	NP_064592.2:p.(Asp1458Asn)	NC_000009.11:g.98775171G>A	VUS	1 lab	28b44242e7
17:80195394 SLC16A3 G>A	17	80195394	80195394	G	A	SLC16A3	c.748G>A	NM_001206950.1	NP_001193879.1:p.(Val250Met)	NC_000017.10:g.80195394G>A	VUS	1 lab	28b4a94ed2
11:76870520 MYO7A G>A	11	76870520	76870520	G	A	MYO7A	c.1031G>A	NM_000260.3	NP_000251.3:p.(Cys344Tyr)	NC_000011.9:g.76870520G>A	VUS	1 lab	28b8d8f0a4
17:11809067 DNAH9 C>A	17	11809067	11809067	C	A	DNAH9	c.11690C>A	NM_001372.3	NP_001363.2:p.(Thr3897Asn)	NC_000017.10:g.11809067C>A	VUS	1 lab	28bb388062
1:216246244 USH2A A>G	1	216246244	216246244	A	G	USH2A	c.5844T>C	NM_206933.2	NP_996816.2:p.(Arg1948=)	NC_000001.10:g.216246244A>G	(Likely) benign	1 lab	28bb8c61e2
15:51791541 DMXL2 C>T	15	51791541	51791541	C	T	DMXL2	c.3880G>A	NM_001174116.1	NP_001167587.1:p.(Ala1294Thr)	NC_000015.9:g.51791541C>T	(Likely) benign	1 lab	28bc9d0280
19:18375496 IQCN G>A	19	18375496	18375496	G	A	IQCN	c.2854C>T	NM_001145304.2	NP_001138776.1:p.(Arg952Ter)	NC_000019.9:g.18375496G>A	VUS	1 lab	28bec795b1
16:49670305 ZNF423 G>A	16	49670305	49670305	G	A	ZNF423	c.2578C>T	NM_001271620.2	NP_001258549.1:p.(Arg860Cys)	NC_000016.9:g.49670305G>A	VUS	1 lab	28bf9677c5
4:8873313 HMX1 G>A	4	8873313	8873313	G	A	HMX1	c.28C>T	NM_018942.2	NP_061815.2:p.(Arg10Cys)	NC_000004.11:g.8873313G>A	VUS	1 lab	28bfc4b3d6
10:123276981 FGFR2 G>C	10	123276981	123276981	G	C	FGFR2	c.940-4C>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123276981G>C	(Likely) benign	1 lab	28c004d722
15:43678503 TUBGCP4 A>G	15	43678503	43678503	A	G	TUBGCP4	c.989A>G	NM_001286414.2	NP_001273343.1:p.(Asp330Gly)	NC_000015.9:g.43678503A>G	VUS	1 lab	28c2d7fd3a
18:21124913 NPC1 C>CG	18	21124913	21124914	C	CG	NPC1	c.1947+10_1947+11insC	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21124913_21124914insG	(Likely) benign	1 lab	28c3e1d88c
X:122761719 THOC2 T>C	X	122761719	122761719	T	C	THOC2	c.2582A>G	NM_001081550.1	NP_001075019.1:p.(His861Arg)	NC_000023.10:g.122761719T>C	VUS	1 lab	28c6e3d1d1
20:50406630 SALL4 T>G	20	50406630	50406630	T	G	SALL4	c.2392A>C	NM_020436.3	NP_065169.1:p.(Ile798Leu)	NC_000020.10:g.50406630T>G	(Likely) benign	1 lab	28c71b1ba2
6:32551970 HLA-DRB1 T>G	6	32551970	32551970	T	G	HLA-DRB1	c.286A>C	NM_002124.4	NP_002115.2:p.(Ile96Leu)	NC_000006.11:g.32551970T>G	(Likely) benign	1 lab	e786a4b919
4:69097016 TMPRSS11B T>C	4	69097016	69097016	T	C	TMPRSS11B	c.591A>G	NM_182502.3	NP_872308.2:p.(Pro197=)	NC_000004.11:g.69097016T>C	(Likely) benign	1 lab	28c79581b7
X:70072995 TEX11 C>T	X	70072995	70072995	C	T	TEX11	c.459G>A	NM_001003811.1	NP_001003811.1:p.(Glu153=)	NC_000023.10:g.70072995C>T	(Likely) benign	1 lab	28c805339b
3:142261585 ATR T>C	3	142261585	142261585	T	C	ATR	c.3372A>G	NM_001184.3	NP_001175.2:p.(Gln1124=)	NC_000003.11:g.142261585T>C	(Likely) benign	1 lab	28c92bb293
13:110833760 COL4A1 A>AC	13	110833760	110833761	A	AC	COL4A1	c.2096-25_2096-24insG	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110833760_110833761insC	(Likely) benign	1 lab	28c97cbf36
3:38518872 ACVR2B C>T	3	38518872	38518872	C	T	ACVR2B	c.147C>T	NM_001106.3	NP_001097.2:p.(Cys49=)	NC_000003.11:g.38518872C>T	(Likely) benign	1 lab	28c996339c
3:189455575 TP63 C>T	3	189455575	189455575	C	T	TP63	c.109C>T	NM_003722.5	NP_003713.3:p.(Arg37Ter)	NC_000003.11:g.189455575C>T	VUS	1 lab	e78a34450d
3:36587723 STAC G>C	3	36587723	36587723	G	C	STAC	c.1151G>C	NM_003149.2	NP_003140.1:p.(Arg384Thr)	NC_000003.11:g.36587723G>C	VUS	1 lab	28c9ff7942
18:31319136 ASXL3 A>G	18	31319136	31319136	A	G	ASXL3	c.1768A>G	NM_030632.3	NP_085135.1:p.(Ile590Val)	NC_000018.9:g.31319136A>G	(Likely) benign	1 lab	e78b2bc134
17:29556139 NF1 G>T	17	29556139	29556139	G	T	NF1	c.2506G>T	NM_000267.3	NP_000258.1:p.(Glu836Ter)	NC_000017.10:g.29556139G>T	(Likely) pathogenic	1 lab	28ca67a4bd
1:26629340 UBXN11 CG>C	1	26629340	26629343	CG	C	UBXN11	c.34del	NM_001389556.1	NP_001376485.1:p.(Arg12GlufsTer10)	NC_000001.10:g.26629343del	VUS	1 lab	28cc6c4d3c
2:152349026 NEB G>A	2	152349026	152349026	G	A	NEB	c.24871-18C>T	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152349026G>A	(Likely) benign	1 lab	e78e67ed13
15:77067254 SCAPER T>C	15	77067254	77067254	T	C	SCAPER	c.977A>G	NM_001353009.1	NP_001339938.1:p.(Glu326Gly)	NC_000015.9:g.77067254T>C	VUS	1 lab	28cdc821ed
10:73558872 CDH23 G>T	10	73558872	73558872	G	T	CDH23	c.7059G>T	NM_022124.5	NP_071407.4:p.(Lys2353Asn)	NC_000010.10:g.73558872G>T	VUS	1 lab	28d0f935ee
7:6189738 USP42 C>T	7	6189738	6189738	C	T	USP42	c.1911C>T	NM_032172.2	NP_115548.1:p.(Pro637=)	NC_000007.13:g.6189738C>T	(Likely) benign	1 lab	28d20fcb29
X:19372611 PDHA1 G>A	X	19372611	19372611	G	A	PDHA1	c.627G>A	NM_001173454.1	NP_001166925.1:p.(Val209=)	NC_000023.10:g.19372611G>A	(Likely) benign	1 lab	28d3638953
X:76931729 ATRX A>G	X	76931729	76931729	A	G	ATRX	c.3801T>C	NM_000489.5	NP_000480.3:p.(Pro1267=)	NC_000023.10:g.76931729A>G	(Likely) benign	1 lab	28d3f25063
15:28380707 HERC2 C>T	15	28380707	28380707	C	T	HERC2	c.12147G>A	NM_004667.5	NP_004658.3:p.(Lys4049=)	NC_000015.9:g.28380707C>T	(Likely) benign	1 lab	28d6618652
3:122002764 CASR C>T	3	122002764	122002764	C	T	CASR	c.1993C>T	NM_001178065.1	NP_001171536.1:p.(Leu665Phe)	NC_000003.11:g.122002764C>T	VUS	1 lab	28d78f036b
2:136566632 LCT G>A	2	136566632	136566632	G	A	LCT	c.3285C>T	NM_002299.2	NP_002290.2:p.(His1095=)	NC_000002.11:g.136566632G>A	(Likely) benign	1 lab	28d93fad4c
2:239040305 ESPNL G>A	2	239040305	239040305	G	A	ESPNL	c.2950G>A	NM_194312.4	NP_919288.2:p.(Gly984Ser)	NC_000002.11:g.239040305G>A	VUS	1 lab	28d9920bf3
15:33194124 FMN1 C>T	15	33194124	33194124	C	T	FMN1	c.3495G>A	NM_001277313.1	NP_001264242.1:p.(Thr1165=)	NC_000015.9:g.33194124C>T	(Likely) benign	1 lab	28dc25d8fc
X:153225535 HCFC1 C>T	X	153225535	153225535	C	T	HCFC1	c.1162G>A	NM_005334.2	NP_005325.2:p.(Ala388Thr)	NC_000023.10:g.153225535C>T	(Likely) benign	1 lab	28dc2c349a
7:103629745 RELN G>T	7	103629745	103629745	G	T	RELN	c.59C>A	NM_005045.3	NP_005036.2:p.(Thr20Lys)	NC_000007.13:g.103629745G>T	(Likely) benign	1 lab	28de51247f
10:104160439 NFKB2 G>A	10	104160439	104160439	G	A	NFKB2	c.1826G>A	NM_001288724.1	NP_001275653.1:p.(Arg609Gln)	NC_000010.10:g.104160439G>A	(Likely) benign	1 lab	28deda5660
1:207648266 CR2 T>G	1	207648266	207648266	T	G	CR2	c.2421T>G	NM_001006658.2	NP_001006659.1:p.(Cys807Trp)	NC_000001.10:g.207648266T>G	VUS	1 lab	28e1245adf
17:11757743 DNAH9 G>A	17	11757743	11757743	G	A	DNAH9	c.9931G>A	NM_001372.3	NP_001363.2:p.(Ala3311Thr)	NC_000017.10:g.11757743G>A	VUS	1 lab	28e2069269
13:103401118 LRTM3 T>C	13	103401118	103401118	T	C	LRTM3	c.1929A>G	NM_001146197.2	NP_001139669.1:p.(Leu643=)	NC_000013.10:g.103401118T>C	(Likely) benign	1 lab	28e2525865
15:65295576 MTFMT G>A	15	65295576	65295576	G	A	MTFMT	c.994C>T	NM_139242.3	NP_640335.2:p.(Arg332Ter)	NC_000015.9:g.65295576G>A	(Likely) pathogenic	1 lab	28e4d838a8
8:32621805 NRG1 C>A	8	32621805	32621805	C	A	NRG1	c.1823C>A	NM_013956.4	NP_039250.2:p.(Pro608His)	NC_000008.10:g.32621805C>A	(Likely) benign	1 lab	28e79867bf
17:73274215 SLC25A19 G>A	17	73274215	73274215	G	A	SLC25A19	c.643+18C>T	NM_001126121.2	NP_001119593.1:p.?	NC_000017.10:g.73274215G>A	(Likely) benign	1 lab	28e836c854
15:30011017 TJP1 T>C	15	30011017	30011017	T	C	TJP1	c.3329A>G	NM_003257.4	NP_003248.3:p.(His1110Arg)	NC_000015.9:g.30011017T>C	(Likely) benign	1 lab	28e837dfc6
1:100949941 CDC14A T>C	1	100949941	100949941	T	C	CDC14A	c.1071T>C	NM_001319210.1	NP_001306139.1:p.(Ser357=)	NC_000001.10:g.100949941T>C	(Likely) benign	1 lab	28ea97d341
12:88474058 CEP290 C>A	12	88474058	88474058	C	A	CEP290	c.5127G>T	NM_025114.3	NP_079390.3:p.(Gln1709His)	NC_000012.11:g.88474058C>A	VUS	1 lab	28ec277955
X:102332553 NXF3 G>A	X	102332553	102332553	G	A	NXF3	c.1573C>T	NM_022052.1	NP_071335.1:p.(Gln525Ter)	NC_000023.10:g.102332553G>A	VUS	1 lab	28ecf26f3a
10:135044665 UTF1 C>T	10	135044665	135044665	C	T	UTF1	c.745C>T	NM_003577.3	NP_003568.2:p.(Pro249Ser)	NC_000010.10:g.135044665C>T	(Likely) benign	1 lab	28ed0097e4
2:179398630 TTN G>A	2	179398630	179398630	G	A	TTN	c.102712C>T	NM_001267550.1	NP_001254479.1:p.(Arg34238Cys)	NC_000002.11:g.179398630G>A	VUS	1 lab	28ed4688ff
3:25674291 TOP2B GA>G	3	25674291	25674300	GA	G	TOP2B	c.1027-7del	NM_001330700.2	NP_001317629.1:p.?	NC_000003.11:g.25674300del	(Likely) benign	1 lab	28ee071af5
2:211540542 CPS1 C>T	2	211540542	211540542	C	T	CPS1	c.4252C>T	NM_001875.4	NP_001866.2:p.(Pro1418Ser)	NC_000002.11:g.211540542C>T	VUS	1 lab	28ef0cb285
19:58926921 ZNF584 C>T	19	58926921	58926921	C	T	ZNF584	c.176C>T	NM_001318002.1	NP_001304931.1:p.(Thr59Ile)	NC_000019.9:g.58926921C>T	(Likely) benign	1 lab	28f0164426
11:73820185 C2CD3 TG>T	11	73820185	73820187	TG	T	C2CD3	c.1855del	NM_001286577.2	NP_001273506.1:p.(Gln619SerfsTer14)	NC_000011.9:g.73820187del	VUS	1 lab	28f01c541f
17:66397558 ARSG C>T	17	66397558	66397558	C	T	ARSG	c.1270C>T	NM_001352910.1	NP_001339839.1:p.(Arg424Cys)	NC_000017.10:g.66397558C>T	VUS	1 lab	28f02fb840
20:48124462 PTGIS G>A	20	48124462	48124462	G	A	PTGIS	c.1498C>T	NM_000961.3	NP_000952.1:p.(Pro500Ser)	NC_000020.10:g.48124462G>A	(Likely) benign	1 lab	28f08bbba3
9:117825291 TNC A>G	9	117825291	117825291	A	G	TNC	c.3938T>C	NM_002160.3	NP_002151.2:p.(Ile1313Thr)	NC_000009.11:g.117825291A>G	VUS	1 lab	28f0e91787
3:150908634 MED12L A>G	3	150908634	150908634	A	G	MED12L	c.1884A>G	NM_053002.5	NP_443728.3:p.(Ser628=)	NC_000003.11:g.150908634A>G	(Likely) benign	1 lab	28f2b25bb8
18:19371384 MIB1 GGA>G	18	19371384	19371388	GGA	G	MIB1	c.961_962del	NM_020774.4	NP_065825.1:p.(Asp321CysfsTer16)	NC_000018.9:g.19371387_19371388del	(Likely) pathogenic	1 lab	28f394ad5c
3:14183312 TMEM43 G>A	3	14183312	14183312	G	A	TMEM43	c.*17G>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14183312G>A	VUS	1 lab	e795954a49
X:13786914 OFD1 T>C	X	13786914	13786914	T	C	OFD1	c.2576+10T>C	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13786914T>C	(Likely) benign	1 lab	28f59bfb6a
17:40327741 KCNH4 G>A	17	40327741	40327741	G	A	KCNH4	c.843C>T	NM_012285.3	NP_036417.1:p.(Asn281=)	NC_000017.10:g.40327741G>A	(Likely) benign	1 lab	28f5dd6af8
14:30066821 PRKD1 C>T	14	30066821	30066821	C	T	PRKD1	c.2310G>A	NM_002742.2	NP_002733.2:p.(Gly770=)	NC_000014.8:g.30066821C>T	(Likely) benign	1 lab	28f678fcc2
5:150928913 FAT2 G>A	5	150928913	150928913	G	A	FAT2	c.4732C>T	NM_001447.2	NP_001438.1:p.(Arg1578Ter)	NC_000005.9:g.150928913G>A	VUS	1 lab	28f7896298
9:35657870 RMRP G>A	9	35657870	35657870	G	A	RMRP	n.146C>T	NR_003051.3		NC_000009.11:g.35657870G>A	VUS	1 lab	e79996e58f
11:6890987 OR10A2 T>G	11	6890987	6890987	T	G	OR10A2	c.2T>G	NM_001004460.1	NP_001004460.1:p.(Met1?)	NC_000011.9:g.6890987T>G	VUS	1 lab	2903d5c308
10:134713076 CFAP46 G>A	10	134713076	134713076	G	A	CFAP46	c.3019C>T	NM_001200049.3	NP_001186978.2:p.(Arg1007Ter)	NC_000010.10:g.134713076G>A	VUS	1 lab	28fa684e2e
19:1206973 STK11 GGTATGGACAC>G	19	1206973	1206985	GGTATGGACAC	G	STK11	c.64_73del	NM_000455.5	NP_000446.1:p.(Met22SerfsTer26)	NC_000019.9:g.1206976_1206985del	(Likely) pathogenic	1 lab	28fb322d5d
5:16681495 MYO10 G>A	5	16681495	16681495	G	A	MYO10	c.4307C>T	NM_012334.3	NP_036466.2:p.(Ala1436Val)	NC_000005.9:g.16681495G>A	VUS	1 lab	28fd92ee5c
X:70349642 MED12 C>T	X	70349642	70349642	C	T	MED12	c.3804C>T	NM_005120.2	NP_005111.2:p.(Ile1268=)	NC_000023.10:g.70349642C>T	(Likely) benign	1 lab	28fdee9f8b
9:100071799 CCDC180 C>G	9	100071799	100071799	C	G	CCDC180	c.305C>G	NM_020893.3	NP_065944.2:p.(Pro102Arg)	NC_000009.11:g.100071799C>G	(Likely) benign	1 lab	28fe4e8079
5:90001273 ADGRV1 A>G	5	90001273	90001273	A	G	ADGRV1	c.8443A>G	NM_032119.4	NP_115495.3:p.(Thr2815Ala)	NC_000005.9:g.90001273A>G	VUS	1 lab	28ff076c1d
10:121436429 BAG3 G>A	10	121436429	121436429	G	A	BAG3	c.1363G>A	NM_004281.4	NP_004272.2:p.(Glu455Lys)	NC_000010.10:g.121436429G>A	(Likely) pathogenic	1 lab	e79adec72f
19:7707142 STXBP2 C>T	19	7707142	7707142	C	T	STXBP2	c.750C>T	NM_001272034.1	NP_001258963.1:p.(Pro250=)	NC_000019.9:g.7707142C>T	(Likely) benign	1 lab	28ff960413
13:39265467 FREM2 C>G	13	39265467	39265467	C	G	FREM2	c.3986C>G	NM_207361.5	NP_997244.4:p.(Ala1329Gly)	NC_000013.10:g.39265467C>G	VUS	1 lab	28ffdd4c31
4:39465207 LIAS C>T	4	39465207	39465207	C	T	LIAS	c.281C>T	NM_001363700.1	NP_001350629.1:p.(Pro94Leu)	NC_000004.11:g.39465207C>T	(Likely) benign	1 lab	290040e2a2
9:80881659 CEP78 G>A	9	80881659	80881659	G	A	CEP78	c.2150G>A	NM_001098802.2	NP_001092272.1:p.(Gly717Glu)	NC_000009.11:g.80881659G>A	(Likely) benign	1 lab	290059f888
22:33679263 LARGE1 C>T	22	33679263	33679263	C	T	LARGE1	c.1802G>A	NM_004737.5	NP_004728.1:p.(Arg601His)	NC_000022.10:g.33679263C>T	VUS	1 lab	2900d0a390
9:137591785 COL5A1 TAAC>T	9	137591785	137591791	TAAC	T	COL5A1	c.312_314del	NM_000093.5	NP_000084.3:p.(Thr105del)	NC_000009.11:g.137591789_137591791del	VUS	1 lab	2900f14cc3
3:123367897 MYLK C>T	3	123367897	123367897	C	T	MYLK	c.4336G>A	NM_053025.3	NP_444253.3:p.(Glu1446Lys)	NC_000003.11:g.123367897C>T	VUS	1 lab	29044c86e5
5:127599166 FBN2 C>G	5	127599166	127599166	C	G	FBN2	c.8143G>C	NM_001999.3	NP_001990.2:p.(Gly2715Arg)	NC_000005.9:g.127599166C>G	VUS	1 lab	2906363a4f
16:30976688 SETD1A C>T	16	30976688	30976688	C	T	SETD1A	c.1625C>T	NM_014712.3	NP_055527.1:p.(Pro542Leu)	NC_000016.9:g.30976688C>T	VUS	1 lab	e79ebdaf7a
7:4821256 AP5Z1 C>T	7	4821256	4821256	C	T	AP5Z1	c.237C>T	NM_014855.3	NP_055670.1:p.(Pro79=)	NC_000007.13:g.4821256C>T	(Likely) benign	1 lab	29076a23b5
3:52817325 ITIH1 A>C	3	52817325	52817325	A	C	ITIH1	c.1195A>C	NM_002215.3	NP_002206.2:p.(Ile399Leu)	NC_000003.11:g.52817325A>C	VUS	1 lab	2908601390
16:27441411 IL21R G>A	16	27441411	27441411	G	A	IL21R	c.85G>A	NM_181079.4	NP_851565.4:p.(Ala29Thr)	NC_000016.9:g.27441411G>A	(Likely) benign	1 lab	29091a4b47
19:56244767 NLRP9 T>C	19	56244767	56244767	T	C	NLRP9	c.430A>G	NM_176820.3	NP_789790.2:p.(Arg144Gly)	NC_000019.9:g.56244767T>C	(Likely) benign	1 lab	29092a2daf
7:100224998 TFR2 C>T	7	100224998	100224998	C	T	TFR2	c.1884G>A	NM_003227.3	NP_003218.2:p.(Gln628=)	NC_000007.13:g.100224998C>T	(Likely) benign	1 lab	290a6e2635
12:6709432 CHD4 T>C	12	6709432	6709432	T	C	CHD4	c.1193A>G	NM_001273.5	NP_001264.2:p.(Asp398Gly)	NC_000012.11:g.6709432T>C	VUS	1 lab	41bfe6db2c
1:46658896 POMGNT1 G>A	1	46658896	46658896	G	A	POMGNT1	c.1111-9C>T	NM_001243766.1	NP_001230695.1:p.?	NC_000001.10:g.46658896G>A	(Likely) benign	1 lab	290a9ab44e
8:68026070 CSPP1 G>A	8	68026070	68026070	G	A	CSPP1	c.1245G>A	NM_024790.6	NP_079066.5:p.(Ala415=)	NC_000008.10:g.68026070G>A	(Likely) benign	1 lab	290c675b77
X:106116878 TBC1D8B A>C	X	106116878	106116878	A	C	TBC1D8B	c.3046A>C	NM_017752.2	NP_060222.2:p.(Ile1016Leu)	NC_000023.10:g.106116878A>C	(Likely) benign	1 lab	290fbe6cd0
4:2835519 SH3BP2 C>T	4	2835519	2835519	C	T	SH3BP2	c.1728C>T	NM_001145855.2	NP_001139327.1:p.(Ser576=)	NC_000004.11:g.2835519C>T	(Likely) benign	1 lab	29106798eb
7:123105013 IQUB C>G	7	123105013	123105013	C	G	IQUB	c.1632G>C	NM_001282855.1	NP_001269784.1:p.(Glu544Asp)	NC_000007.13:g.123105013C>G	VUS	1 lab	2910b1f7c5
X:18622382 CDKL5 A>T	X	18622382	18622382	A	T	CDKL5	c.1338A>T	NM_001323289.1	NP_001310218.1:p.(Ser446=)	NC_000023.10:g.18622382A>T	(Likely) benign	1 lab	29114844e0
X:47426462 ARAF T>G	X	47426462	47426462	T	G	ARAF	c.814T>G	NM_001256196.1	NP_001243125.1:p.(Ser272Ala)	NC_000023.10:g.47426462T>G	(Likely) benign	1 lab	2911f64036
11:1271225 MUC5B C>T	11	1271225	1271225	C	T	MUC5B	c.13115C>T	NM_002458.2	NP_002449.2:p.(Thr4372Met)	NC_000011.9:g.1271225C>T	VUS	1 lab	291275c9d7
14:95583970 DICER1 T>A	14	95583970	95583970	T	A	DICER1	c.1498A>T	NM_030621.4	NP_085124.2:p.(Lys500Ter)	NC_000014.8:g.95583970T>A	(Likely) pathogenic	1 lab	29159b860b
X:7252040 STS C>T	X	7252040	7252040	C	T	STS	c.1291C>T	NM_001320750.1	NP_001307679.1:p.(Arg431Cys)	NC_000023.10:g.7252040C>T	VUS	1 lab	2916aca33c
17:56293469 MKS1 T>C	17	56293469	56293469	T	C	MKS1	c.397A>G	NM_017777.3	NP_060247.2:p.(Arg133Gly)	NC_000017.10:g.56293469T>C	VUS	1 lab	2917744321
4:170477082 NEK1 C>A	4	170477082	170477082	C	A	NEK1	c.1430+1G>T	NM_001199397.1	NP_001186326.1:p.?	NC_000004.11:g.170477082C>A	(Likely) pathogenic	1 lab	2918c1ea54
16:77353841 ADAMTS18 G>T	16	77353841	77353841	G	T	ADAMTS18	c.1921C>A	NM_001326358.1	NP_001313287.1:p.(Pro641Thr)	NC_000016.9:g.77353841G>T	VUS	1 lab	2918d42743
1:17314834 ATP13A2 G>A	1	17314834	17314834	G	A	ATP13A2	c.2745C>T	NM_022089.2	NP_071372.1:p.(Cys915=)	NC_000001.10:g.17314834G>A	(Likely) benign	1 lab	29191e3128
11:18314503 HPS5 C>T	11	18314503	18314503	C	T	HPS5	c.1805G>A	NM_181507.1	NP_852608.1:p.(Ser602Asn)	NC_000011.9:g.18314503C>T	(Likely) benign	1 lab	2919680f74
16:88787087 PIEZO1 G>A	16	88787087	88787087	G	A	PIEZO1	c.5738C>T	NM_001142864.4	NP_001136336.2:p.(Pro1913Leu)	NC_000016.9:g.88787087G>A	(Likely) benign	1 lab	291986e2eb
15:89837113 FANCI C>A	15	89837113	89837113	C	A	FANCI	c.2341C>A	NM_001113378.1	NP_001106849.1:p.(Leu781Ile)	NC_000015.9:g.89837113C>A	VUS	1 lab	2919cde47a
17:29665065 NF1 TC>T	17	29665065	29665068	TC	T	NF1	c.6730del	NM_001042492.3	NP_001035957.1:p.(Leu2244CysfsTer21)	NC_000017.10:g.29665068del	(Likely) pathogenic	1 lab	291a0aed81
1:152280088 FLG T>G	1	152280088	152280088	T	G	FLG	c.7274A>C	NM_002016.1	NP_002007.1:p.(Glu2425Ala)	NC_000001.10:g.152280088T>G	VUS	1 lab	291c6e8040
9:133954514 LAMC3 T>C	9	133954514	133954514	T	C	LAMC3	c.3778-22T>C	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133954514T>C	(Likely) benign	1 lab	2923751672
16:50659407 NKD1 C>T	16	50659407	50659407	C	T	NKD1	c.378C>T	NM_033119.5	NP_149110.1:p.(Cys126=)	NC_000016.9:g.50659407C>T	(Likely) benign	1 lab	292380f080
X:19984699 BCLAF3 C>T	X	19984699	19984699	C	T	BCLAF3	c.110G>A	NM_198279.3	NP_938020.2:p.(Cys37Tyr)	NC_000023.10:g.19984699C>T	(Likely) benign	1 lab	2924ac62f6
1:120277295 PHGDH G>A	1	120277295	120277295	G	A	PHGDH	c.549G>A	NM_006623.3	NP_006614.2:p.(Ser183=)	NC_000001.10:g.120277295G>A	(Likely) benign	1 lab	29279cf72b
4:113540845 ZGRF1 C>A	4	113540845	113540845	C	A	ZGRF1	c.353G>T	NM_018392.4	NP_060862.3:p.(Gly118Val)	NC_000004.11:g.113540845C>A	VUS	1 lab	2929d03df5
2:179518599 TTN T>C	2	179518599	179518599	T	C	TTN	c.38490A>G	NM_001267550.2	NP_001254479.2:p.(Ala12830=)	NC_000002.11:g.179518599T>C	(Likely) benign	1 lab	e79f0b8d42
X:69353915 IGBP1 GAGA>G	X	69353915	69353920	GAGA	G	IGBP1	c.121_123del	NM_001551.3	NP_001542.1:p.(Lys41del)	NC_000023.10:g.69353918_69353920del	VUS	1 lab	e7a3d9f5bf
9:123298783 CDK5RAP2 CTGCCT>C	9	123298783	123298788	CTGCCT	C	CDK5RAP2	c.524_528del	NM_018249.6	NP_060719.4:p.(Gln175ArgfsTer42)	NC_000009.11:g.123298784_123298788del	VUS	1 lab	292dadcd0d
16:2104395 TSC2 CC>T	16	2104395	2104396	CC	T	TSC2	c.435_436delinsT	NM_000548.3	NP_000539.2:p.(Leu146SerfsTer36)	NC_000016.9:g.2104395_2104396delinsT	(Likely) pathogenic	1 lab	293246c40a
2:26750782 OTOF G>A	2	26750782	26750782	G	A	OTOF	c.145C>T	NM_194248.2	NP_919224.1:p.(Arg49Trp)	NC_000002.11:g.26750782G>A	(Likely) benign	1 lab	2932a50158
16:223447 HBA2 G>C	16	223447	223447	G	C	HBA2	c.301-24G>C	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223447G>C	(Likely) benign	1 lab	2933c545b0
17:26861451 FOXN1 T>A	17	26861451	26861451	T	A	FOXN1	c.1030T>A	NM_003593.2	NP_003584.2:p.(Cys344Ser)	NC_000017.10:g.26861451T>A	VUS	1 lab	293560357c
3:148712067 GYG1 G>T	3	148712067	148712067	G	T	GYG1	c.143+3G>T	NM_004130.3	NP_004121.2:p.?	NC_000003.11:g.148712067G>T	VUS	1 lab	2937121522
13:103398974 LRTM3 G>A	13	103398974	103398974	G	A	LRTM3	c.4073C>T	NM_001146197.2	NP_001139669.1:p.(Thr1358Ile)	NC_000013.10:g.103398974G>A	(Likely) benign	1 lab	293733e323
19:49477975 GYS1 G>T	19	49477975	49477975	G	T	GYS1	c.1324C>A	NM_002103.4	NP_002094.2:p.(Pro442Thr)	NC_000019.9:g.49477975G>T	VUS	1 lab	29378604ae
7:145814058 CNTNAP2 C>T	7	145814058	145814058	C	T	CNTNAP2	c.90C>T	NM_014141.5	NP_054860.1:p.(Ser30=)	NC_000007.13:g.145814058C>T	(Likely) benign	1 lab	2937870d72
15:23892415 MAGEL2 T>C	15	23892415	23892415	T	C	MAGEL2	c.475A>G	NM_019066.4	NP_061939.3:p.(Met159Val)	NC_000015.9:g.23892415T>C	VUS	1 lab	2938841cd7
19:38572961 SIPA1L3 G>GGGC	19	38572961	38572972	G	GGGC	SIPA1L3	c.765_767dup	NM_015073.2	NP_055888.1:p.(Gly256dup)	NC_000019.9:g.38572970_38572972dup	VUS	1 lab	29388e679f
X:69503438 RAB41 T>C	X	69503438	69503438	T	C	RAB41	c.416T>C	NM_001032726.2	NP_001027898.2:p.(Met139Thr)	NC_000023.10:g.69503438T>C	VUS	1 lab	2938c339a0
22:31010431 TCN2 G>A	22	31010431	31010431	G	A	TCN2	c.442G>A	NM_001184726.1	NP_001171655.1:p.(Val148Met)	NC_000022.10:g.31010431G>A	VUS	1 lab	2938fccbb5
X:48762571 SLC35A2 G>A	X	48762571	48762571	G	A	SLC35A2	c.699C>T	NM_001282651.1	NP_001269580.1:p.(Ala233=)	NC_000023.10:g.48762571G>A	(Likely) benign	1 lab	293977ea21
17:29676270 NF1 G>T	17	29676270	29676270	G	T	NF1	c.7258+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29676270G>T	(Likely) pathogenic	1 lab	293b58d14a
22:38028017 GGA1 G>A	22	38028017	38028017	G	A	GGA1	c.1594G>A	NM_001363771.1	NP_001350700.1:p.(Val532Met)	NC_000022.10:g.38028017G>A	VUS	1 lab	293b777915
16:88494925 ZNF469 C>T	16	88494925	88494925	C	T	ZNF469				NC_000016.9:g.88494925C>T	(Likely) benign	1 lab	293c4268b9
11:1267476 MUC5B G>A	11	1267476	1267476	G	A	MUC5B	c.9366G>A	NM_002458.2	NP_002449.2:p.(Met3122Ile)	NC_000011.9:g.1267476G>A	(Likely) benign	1 lab	293d868e83
5:149514354 PDGFRB C>T	5	149514354	149514354	C	T	PDGFRB	c.590G>A	NM_002609.3	NP_002600.1:p.(Arg197Lys)	NC_000005.9:g.149514354C>T	(Likely) benign	1 lab	293e0adb93
3:11059620 SLC6A1 CG>C	3	11059620	11059626	CG	C	SLC6A1	c.336del	NM_003042.4	NP_003033.3:p.(Leu113Ter)	NC_000003.11:g.11059626del	(Likely) pathogenic	1 lab	293e98fe79
17:41256299 BRCA1 CATT>C	17	41256299	41256304	CATT	C	BRCA1	c.302-24_302-22del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256302_41256304del	VUS	1 lab	29406cf42b
21:33975515 CFAP298 C>T	21	33975515	33975515	C	T	CFAP298	c.622G>A	NM_021254.3	NP_067077.1:p.(Val208Met)	NC_000021.8:g.33975515C>T	(Likely) benign	1 lab	29416e1f8e
1:19205834 ALDH4A1 C>A	1	19205834	19205834	C	A	ALDH4A1	c.900G>T	NM_003748.4	NP_003739.2:p.(Gln300His)	NC_000001.10:g.19205834C>A	VUS	1 lab	2943f0b63e
X:14627247 GLRA2 C>A	X	14627247	14627247	C	A	GLRA2	c.850C>A	NM_001118886.1	NP_001112358.1:p.(Pro284Thr)	NC_000023.10:g.14627247C>A	VUS	1 lab	2944d116c7
6:3225136 TUBB2B T>C	6	3225136	3225136	T	C	TUBB2B	c.1187A>G	NM_178012.4	NP_821080.1:p.(His396Arg)	NC_000006.11:g.3225136T>C	(Likely) pathogenic	1 lab	294568bf7b
10:16981115 CUBN A>G	10	16981115	16981115	A	G	CUBN	c.5580T>C	NM_001081.3	NP_001072.2:p.(His1860=)	NC_000010.10:g.16981115A>G	(Likely) benign	1 lab	2945994c41
6:144801126 UTRN G>A	6	144801126	144801126	G	A	UTRN	c.3507+8G>A	NM_007124.2	NP_009055.2:p.?	NC_000006.11:g.144801126G>A	(Likely) benign	1 lab	29471c639c
11:61204361 SDHAF2 A>C	11	61204361	61204361	A	C	SDHAF2	c.37-736A>C	NM_017841.4	NP_060311.1:p.?	NC_000011.9:g.61204361A>C	(Likely) benign	1 lab	e7ad664ba8
8:100155403 VPS13B T>C	8	100155403	100155403	T	C	VPS13B	c.1843+10T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100155403T>C	(Likely) benign	1 lab	294b252cfd
1:152275868 FLG C>T	1	152275868	152275868	C	T	FLG	c.11494G>A	NM_002016.1	NP_002007.1:p.(Glu3832Lys)	NC_000001.10:g.152275868C>T	VUS	1 lab	294b528154
1:68906637 RPE65 G>T	1	68906637	68906637	G	T	RPE65	c.542C>A	NM_000329.2	NP_000320.1:p.(Pro181His)	NC_000001.10:g.68906637G>T	VUS	1 lab	294c444c63
6:137245255 SLC35D3 C>A	6	137245255	137245255	C	A	SLC35D3	c.672C>A	NM_001008783.3	NP_001008783.1:p.(Ala224=)	NC_000006.11:g.137245255C>A	(Likely) benign	1 lab	294d359fa9
10:29813538 SVIL C>T	10	29813538	29813538	C	T	SVIL	c.2449G>A	NM_021738.2	NP_068506.2:p.(Glu817Lys)	NC_000010.10:g.29813538C>T	VUS	1 lab	294d562568
7:151877099 KMT2C TGAAGAGGCCCTG>T	7	151877099	151877113	TGAAGAGGCCCTG	T	KMT2C	c.7250_7261del	NM_170606.3	NP_733751.2:p.(Pro2417_Leu2420del)	NC_000007.13:g.151877102_151877113del	VUS	1 lab	294e27a8ae
12:40713905 LRRK2 A>G	12	40713905	40713905	A	G	LRRK2	c.4943A>G	NM_198578.3	NP_940980.3:p.(Gln1648Arg)	NC_000012.11:g.40713905A>G	VUS	1 lab	294f78fb1d
1:9804623 CLSTN1 T>C	1	9804623	9804623	T	C	CLSTN1	c.1064A>G	NM_001009566.2	NP_001009566.1:p.(Asn355Ser)	NC_000001.10:g.9804623T>C	VUS	1 lab	2958496541
17:29670142 NF1 AC>A	17	29670142	29670144	AC	A	NF1	c.7180del	NM_001042492.3	NP_001035957.1:p.(Leu2394PhefsTer2)	NC_000017.10:g.29670144del	(Likely) pathogenic	1 lab	2950533d02
17:79478362 ACTG1 G>A	17	79478362	79478362	G	A	ACTG1	c.654C>T	NM_001199954.2	NP_001186883.1:p.(Tyr218=)	NC_000017.10:g.79478362G>A	(Likely) benign	1 lab	2951e55264
13:48878061 RB1 AC>A	13	48878061	48878067	AC	A	RB1	c.19del	NM_000321.3	NP_000312.2:p.(Arg7GlufsTer58)	NC_000013.10:g.48878067del	(Likely) pathogenic	1 lab	e7b250b46c
1:156830911 NTRK1 T>C	1	156830911	156830911	T	C	NTRK1	c.185T>C	NM_002529.3	NP_002520.2:p.(Leu62Pro)	NC_000001.10:g.156830911T>C	VUS	1 lab	2954465fc8
17:40259690 DHX58 T>C	17	40259690	40259690	T	C	DHX58	c.929A>G	NM_024119.3	NP_077024.2:p.(Tyr310Cys)	NC_000017.10:g.40259690T>C	VUS	1 lab	2954829568
17:29663836 NF1 G>GTA	17	29663836	29663838	G	GTA	NF1	c.6269_6270dup	NM_000267.3	NP_000258.1:p.(Ala2091Ter)	NC_000017.10:g.29663837_29663838dup	(Likely) pathogenic	1 lab	2954a0a1e8
2:208989025 CRYGD G>A	2	208989025	208989025	G	A	CRYGD	c.63C>T	NM_006891.3	NP_008822.2:p.(Ser21=)	NC_000002.11:g.208989025G>A	(Likely) benign	1 lab	29556caaa0
19:6712521 C3 T>C	19	6712521	6712521	T	C	C3	c.1117A>G	NM_000064.2	NP_000055.2:p.(Met373Val)	NC_000019.9:g.6712521T>C	VUS	1 lab	2955be395d
13:20797281 GJB6 A>T	13	20797281	20797281	A	T	GJB6	c.339T>A	NM_001110219.3	NP_001103689.1:p.(Asn113Lys)	NC_000013.10:g.20797281A>T	(Likely) benign	1 lab	295605cbe0
12:21968839 ABCC9 G>A	12	21968839	21968839	G	A	ABCC9	c.3893-12C>T	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.21968839G>A	(Likely) benign	1 lab	29564fb770
2:48027022 MSH6 TTG>T	2	48027022	48027024	TTG	T	MSH6	c.1901_1902del	NM_000179.3	NP_000170.1:p.(Leu634Ter)	NC_000002.11:g.48027023_48027024del	(Likely) pathogenic	1 lab	e7b2fdff33
10:81319214 SFTPA2 G>T	10	81319214	81319214	G	T	SFTPA2	c.26C>A	NM_001098668.4	NP_001092138.1:p.(Thr9Asn)	NC_000010.10:g.81319214G>T	(Likely) benign	1 lab	e7b4a30bb4
17:48183471 PDK2 G>C	17	48183471	48183471	G	C	PDK2	c.555G>C	NM_001199900.1	NP_001186829.1:p.(Gly185=)	NC_000017.10:g.48183471G>C	(Likely) benign	1 lab	295b2a0680
12:124856579 NCOR2 G>A	12	124856579	124856579	G	A	NCOR2	c.2796C>T	NM_006312.5	NP_006303.4:p.(Gly932=)	NC_000012.11:g.124856579G>A	VUS	1 lab	295b330ea5
4:123176425 BLTP1 A>G	4	123176425	123176425	A	G	BLTP1	c.6365A>G	NM_015312.3	NP_056127.2:p.(Asp2122Gly)	NC_000004.11:g.123176425A>G	(Likely) benign	1 lab	295bbc8718
3:57136546 IL17RD C>T	3	57136546	57136546	C	T	IL17RD	c.508G>A	NM_001318864.1	NP_001305793.1:p.(Ala170Thr)	NC_000003.11:g.57136546C>T	VUS	1 lab	295cb90dd6
10:55782792 PCDH15 C>T	10	55782792	55782792	C	T	PCDH15				NC_000010.10:g.55782792C>T	VUS	1 lab	295cca84dc
10:81272731 EIF5AL1 C>G	10	81272731	81272731	C	G	EIF5AL1	c.326C>G	NM_001099692.1	NP_001093162.1:p.(Pro109Arg)	NC_000010.10:g.81272731C>G	(Likely) benign	1 lab	295d657ccc
6:170176757 ERMARD G>A	6	170176757	170176757	G	A	ERMARD	c.1727G>A	NM_018341.2	NP_060811.1:p.(Arg576His)	NC_000006.11:g.170176757G>A	(Likely) benign	1 lab	295dcd41f0
17:29657403 NF1 TC>A	17	29657403	29657404	TC	A	NF1	c.5636_5637delinsA	NM_000267.3	NP_000258.1:p.(Ile1879AsnfsTer25)	NC_000017.10:g.29657403_29657404delinsA	(Likely) pathogenic	1 lab	29601dc3ad
3:10183863 VHL G>A	3	10183863	10183863	G	A	VHL	c.332G>A	NM_000551.3	NP_000542.1:p.(Ser111Asn)	NC_000003.11:g.10183863G>A	(Likely) pathogenic	1 lab	29621b90c1
2:179412312 TTN T>C	2	179412312	179412312	T	C	TTN	c.94041A>G	NM_001267550.1	NP_001254479.1:p.(Glu31347=)	NC_000002.11:g.179412312T>C	(Likely) benign	1 lab	2962233d9a
13:103515056 ERCC5 A>C	13	103515056	103515056	A	C	ERCC5	c.1557A>C	NM_000123.3	NP_000114.2:p.(Gly519=)	NC_000013.10:g.103515056A>C	(Likely) benign	1 lab	2963bd547b
16:49670185 ZNF423 T>C	16	49670185	49670185	T	C	ZNF423	c.2698A>G	NM_001271620.2	NP_001258549.1:p.(Met900Val)	NC_000016.9:g.49670185T>C	VUS	1 lab	2963e2d337
4:103500189 NFKB1 T>C	4	103500189	103500189	T	C	NFKB1	c.720T>C	NM_001165412.1	NP_001158884.1:p.(Tyr240=)	NC_000004.11:g.103500189T>C	(Likely) benign	1 lab	29647100ee
20:34807716 EPB41L1 G>A	20	34807716	34807716	G	A	EPB41L1	c.2386G>A	NM_001258329.1	NP_001245258.1:p.(Gly796Ser)	NC_000020.10:g.34807716G>A	(Likely) benign	1 lab	29648b966b
13:99520490 DOCK9 T>A	13	99520490	99520490	T	A	DOCK9	c.3085A>T	NM_001130048.1	NP_001123520.1:p.(Ile1029Phe)	NC_000013.10:g.99520490T>A	VUS	1 lab	2964e240c3
X:115303907 AGTR2 C>T	X	115303907	115303907	C	T	AGTR2	c.374C>T	NM_000686.4	NP_000677.2:p.(Thr125Ile)	NC_000023.10:g.115303907C>T	(Likely) benign	1 lab	29661523e9
19:55435200 NLRP7 A>G	19	55435200	55435200	A	G	NLRP7	c.3022T>C	NM_001127255.1	NP_001120727.1:p.(Leu1008=)	NC_000019.9:g.55435200A>G	(Likely) benign	1 lab	29681ae689
11:125831843 CDON AC>A	11	125831843	125831845	AC	A	CDON	c.3406del	NM_001378964.1	NP_001365893.1:p.(Val1136SerfsTer4)	NC_000011.9:g.125831845del	VUS	1 lab	296973a3f6
19:36584904 WDR62 C>T	19	36584904	36584904	C	T	WDR62	c.2334-29C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36584904C>T	(Likely) benign	1 lab	296a9a1e49
X:77289142 ATP7A C>T	X	77289142	77289142	C	T	ATP7A	c.3334C>T	NM_000052.6	NP_000043.4:p.(Gln1112Ter)	NC_000023.10:g.77289142C>T	(Likely) pathogenic	1 lab	296aadfc67
12:124179439 TCTN2 C>T	12	124179439	124179439	C	T	TCTN2	c.1150C>T	NM_024809.4	NP_079085.2:p.(His384Tyr)	NC_000012.11:g.124179439C>T	VUS	1 lab	296b0ea8ad
1:243652388 SDCCAG8 G>A	1	243652388	243652388	G	A	SDCCAG8	c.1155G>A	NM_001350251.1	NP_001337180.1:p.(Gln385=)	NC_000001.10:g.243652388G>A	(Likely) benign	1 lab	296ccd5d2b
4:106320220 PPA2 CA>C	4	106320220	106320223	CA	C	PPA2	c.756del	NM_176869.3	NP_789845.1:p.(Phe252LeufsTer29)	NC_000004.11:g.106320223del	VUS	1 lab	296d238296
20:2640761 IDH3B A>G	20	2640761	2640761	A	G	IDH3B	c.830T>C	NM_006899.4	NP_008830.2:p.(Ile277Thr)	NC_000020.10:g.2640761A>G	VUS	1 lab	296e466a06
9:135782213 TSC1 G>A	9	135782213	135782213	G	A	TSC1	c.1343C>T	NM_000368.4	NP_000359.1:p.(Pro448Leu)	NC_000009.11:g.135782213G>A	(Likely) benign	1 lab	298f1b696b
1:12183362 TNFRSF8 C>A	1	12183362	12183362	C	A	TNFRSF8	c.968C>A	NM_001243.4	NP_001234.3:p.(Thr323Asn)	NC_000001.10:g.12183362C>A	(Likely) benign	1 lab	297225357f
21:38269241 HLCS C>T	21	38269241	38269241	C	T	HLCS	c.1370G>A	NM_001242784.2	NP_001229713.1:p.(Arg457His)	NC_000021.8:g.38269241C>T	(Likely) benign	1 lab	2972c472d8
13:101726968 NALCN T>C	13	101726968	101726968	T	C	NALCN	c.4087A>G	NM_001350748.1	NP_001337677.1:p.(Lys1363Glu)	NC_000013.10:g.101726968T>C	VUS	1 lab	29734456c7
16:81397518 GAN A>G	16	81397518	81397518	A	G	GAN	c.1206A>G	NM_022041.3	NP_071324.1:p.(Thr402=)	NC_000016.9:g.81397518A>G	(Likely) benign	1 lab	2973d47fd7
1:223178123 DISP1 G>C	1	223178123	223178123	G	C	DISP1	c.3384G>C	NM_032890.5	NP_116279.2:p.(Gln1128His)	NC_000001.10:g.223178123G>C	VUS	1 lab	e7baf0b760
15:28424137 HERC2 G>A	15	28424137	28424137	G	A	HERC2	c.9059C>T	NM_004667.5	NP_004658.3:p.(Thr3020Met)	NC_000015.9:g.28424137G>A	VUS	1 lab	29755533ec
X:54817494 ITIH6 C>T	X	54817494	54817494	C	T	ITIH6	c.392G>A	NM_198510.2	NP_940912.1:p.(Arg131His)	NC_000023.10:g.54817494C>T	(Likely) benign	1 lab	297755ff3f
17:29528456 NF1 A>G	17	29528456	29528456	A	G	NF1	c.1213A>G	NM_000267.3	NP_000258.1:p.(Thr405Ala)	NC_000017.10:g.29528456A>G	VUS	1 lab	2977a68156
20:17511601 BFSP1 C>T	20	17511601	17511601	C	T	BFSP1	c.374G>A	NM_001195.4	NP_001186.1:p.(Ser125Asn)	NC_000020.10:g.17511601C>T	(Likely) benign	1 lab	2978aeb3c5
11:36614215 RAG2 T>C	11	36614215	36614215	T	C	RAG2	c.1504A>G	NM_001243786.1	NP_001230715.1:p.(Met502Val)	NC_000011.9:g.36614215T>C	VUS	1 lab	297a2f8617
10:81929046 ANXA11 AGCCCCAGGG>A	10	81929046	81929064	AGCCCCAGGG	A	ANXA11	c.231_239del	NM_145868.2	NP_665875.1:p.(Pro78_Ala80del)	NC_000010.10:g.81929056_81929064del	VUS	1 lab	297a4729fb
17:29664397 NF1 C>T	17	29664397	29664397	C	T	NF1	c.6376C>T	NM_000267.3	NP_000258.1:p.(Gln2126Ter)	NC_000017.10:g.29664397C>T	(Likely) pathogenic	1 lab	297a927e06
20:745858 SLC52A3 G>A	20	745858	745858	G	A	SLC52A3	c.561C>T	NM_033409.3	NP_212134.3:p.(Ile187=)	NC_000020.10:g.745858G>A	(Likely) benign	1 lab	297c94675e
2:112740490 MERTK A>G	2	112740490	112740490	A	G	MERTK	c.1216A>G	NM_006343.2	NP_006334.2:p.(Met406Val)	NC_000002.11:g.112740490A>G	(Likely) benign	1 lab	297cd429ed
3:48508028 ATRIP G>A	3	48508028	48508028	G	A	ATRIP	c.*1075G>A	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48508028G>A	VUS	1 lab	297cdc5bc7
2:98341626 ZAP70 C>T	2	98341626	98341626	C	T	ZAP70	c.474C>T	NM_001079.3	NP_001070.2:p.(His158=)	NC_000002.11:g.98341626C>T	(Likely) benign	1 lab	297f798894
5:37008187 NIPBL T>G	5	37008187	37008187	T	G	NIPBL	c.4317T>G	NM_015384.4	NP_056199.2:p.(Thr1439=)	NC_000005.9:g.37008187T>G	(Likely) benign	1 lab	29807c9cf6
2:170127460 LRP2 T>A	2	170127460	170127460	T	A	LRP2	c.2274A>T	NM_004525.3	NP_004516.2:p.(Ser758=)	NC_000002.11:g.170127460T>A	(Likely) benign	1 lab	298115636e
20:62292841 RTEL1 A>C	20	62292841	62292841	A	C	RTEL1	c.293A>C	NM_001283009.1	NP_001269938.1:p.(Asp98Ala)	NC_000020.10:g.62292841A>C	(Likely) benign	1 lab	298163b2bd
22:29726705 AP1B1 G>A	22	29726705	29726705	G	A	AP1B1	c.2525-7C>T	NM_001127.3	NP_001118.3:p.?	NC_000022.10:g.29726705G>A	(Likely) benign	1 lab	298216aa03
16:72828279 ZFHX3 T>A	16	72828279	72828279	T	A	ZFHX3	c.8302A>T	NM_006885.3	NP_008816.3:p.(Thr2768Ser)	NC_000016.9:g.72828279T>A	(Likely) benign	1 lab	2983629421
9:133936599 LAMC3 C>T	9	133936599	133936599	C	T	LAMC3	c.2336C>T	NM_006059.3	NP_006050.3:p.(Pro779Leu)	NC_000009.11:g.133936599C>T	(Likely) benign	1 lab	29853cff48
12:80704458 OTOGL A>G	12	80704458	80704458	A	G	OTOGL	c.3374A>G	NM_173591.3	NP_775862.3:p.(Lys1125Arg)	NC_000012.11:g.80704458A>G	VUS	1 lab	2986e4471a
11:88925328 TYR A>C	11	88925328	88925328	A	C	TYR	c.1036+742A>C	NM_000372.4	NP_000363.1:p.?	NC_000011.9:g.88925328A>C	(Likely) benign	1 lab	2987842c0b
11:118897644 SLC37A4 T>C	11	118897644	118897644	T	C	SLC37A4	c.784+3A>G	NM_001164277.1	NP_001157749.1:p.?	NC_000011.9:g.118897644T>C	VUS	1 lab	298b7ce61b
1:120548013 NOTCH2 G>A	1	120548013	120548013	G	A	NOTCH2	c.354C>T	NM_024408.3	NP_077719.2:p.(Gly118=)	NC_000001.10:g.120548013G>A	(Likely) benign	1 lab	298ca867ff
16:15814126 MYH11 C>T	16	15814126	15814126	C	T	MYH11	c.4856G>A	NM_001040113.1	NP_001035202.1:p.(Arg1619His)	NC_000016.9:g.15814126C>T	VUS	1 lab	298e581094
8:87679245 CNGB3 G>A	8	87679245	87679245	G	A	CNGB3	c.760C>T	NM_019098.4	NP_061971.3:p.(Leu254Phe)	NC_000008.10:g.87679245G>A	VUS	1 lab	298ebc0cde
3:52488037 TNNC1 C>T	3	52488037	52488037	C	T	TNNC1	c.-6G>A	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52488037C>T	(Likely) benign	1 lab	41d8fb663c
9:140870473 CACNA1B T>C	9	140870473	140870473	T	C	CACNA1B	c.1656+2T>C	NM_000718.3	NP_000709.1:p.?	NC_000009.11:g.140870473T>C	(Likely) pathogenic	1 lab	298fe5aaac
19:17298837 MYO9B G>A	19	17298837	17298837	G	A	MYO9B	c.2671G>A	NM_001130065.1	NP_001123537.1:p.(Ala891Thr)	NC_000019.9:g.17298837G>A	VUS	1 lab	29910902f2
4:5750010 EVC G>A	4	5750010	5750010	G	A	EVC	c.1075G>A	NM_153717.3	NP_714928.1:p.(Asp359Asn)	NC_000004.11:g.5750010G>A	VUS	1 lab	e7bea77877
1:151380968 POGZ C>T	1	151380968	151380968	C	T	POGZ	c.2151G>A	NM_015100.3	NP_055915.2:p.(Pro717=)	NC_000001.10:g.151380968C>T	(Likely) benign	1 lab	29934b2f52
7:42018196 GLI3 A>T	7	42018196	42018196	A	T	GLI3	c.1647+2T>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42018196A>T	(Likely) pathogenic	1 lab	299363f3d9
11:22646719 FANCF G>A	11	22646719	22646719	G	A	FANCF	c.638C>T	NM_022725.3	NP_073562.1:p.(Pro213Leu)	NC_000011.9:g.22646719G>A	(Likely) benign	1 lab	29941cfca2
1:2235812 SKI C>T	1	2235812	2235812	C	T	SKI	c.1555C>T	NM_003036.3	NP_003027.1:p.(Arg519Cys)	NC_000001.10:g.2235812C>T	(Likely) benign	1 lab	2994ea844d
10:43598001 RET C>T	10	43598001	43598001	C	T	RET	c.549C>T	NM_020975.4	NP_066124.1:p.(Gly183=)	NC_000010.10:g.43598001C>T	VUS	1 lab	29955bd7cb
X:39934172 BCOR T>C	X	39934172	39934172	T	C	BCOR	c.427A>G	NM_001123385.1	NP_001116857.1:p.(Asn143Asp)	NC_000023.10:g.39934172T>C	VUS	1 lab	2997ddca3e
8:133978943 TG G>A	8	133978943	133978943	G	A	TG	c.5686+1G>A	NM_003235.4	NP_003226.4:p.?	NC_000008.10:g.133978943G>A	(Likely) pathogenic	1 lab	29987c1417
22:25603078 CRYBB3 C>T	22	25603078	25603078	C	T	CRYBB3	c.535C>T	NM_004076.4	NP_004067.1:p.(Arg179Cys)	NC_000022.10:g.25603078C>T	VUS	1 lab	2998841b6f
18:6961597 LAMA1 C>T	18	6961597	6961597	C	T	LAMA1	c.7614G>A	NM_005559.3	NP_005550.2:p.(Glu2538=)	NC_000018.9:g.6961597C>T	(Likely) benign	1 lab	2998e2667e
11:9051581 SCUBE2 G>A	11	9051581	9051581	G	A	SCUBE2	c.2266C>T	NM_001330199.1	NP_001317128.1:p.(Pro756Ser)	NC_000011.9:g.9051581G>A	VUS	1 lab	299943c4ff
4:88529779 DSPP T>C	4	88529779	88529779	T	C	DSPP	c.-29+7T>C	NM_014208.3	NP_055023.2:p.?	NC_000004.11:g.88529779T>C	(Likely) benign	1 lab	29b41879bc
X:128721037 OCRL AG>A	X	128721037	128721039	AG	A	OCRL	c.2200del	NM_000276.4	NP_000267.2:p.(Val734PhefsTer8)	NC_000023.10:g.128721039del	(Likely) pathogenic	1 lab	299da9b404
14:105995303 TMEM121 C>G	14	105995303	105995303	C	G	TMEM121	c.132C>G	NM_025268.4	NP_079544.1:p.(Ile44Met)	NC_000014.8:g.105995303C>G	VUS	1 lab	299dc49016
5:112103066 APC T>G	5	112103066	112103066	T	G	APC				NC_000005.9:g.112103066T>G	(Likely) pathogenic	1 lab	29a04bb5a0
19:14203989 PRKACA A>G	19	14203989	14203989	A	G	PRKACA	c.1219T>C	NM_001304349.1	NP_001291278.1:p.(Tyr407His)	NC_000019.9:g.14203989A>G	VUS	1 lab	29a0bb217a
5:125885897 ALDH7A1 C>T	5	125885897	125885897	C	T	ALDH7A1	c.1406G>A	NM_001182.4	NP_001173.2:p.(Arg469His)	NC_000005.9:g.125885897C>T	VUS	1 lab	29a0bb5f1d
6:90333700 ANKRD6 C>G	6	90333700	90333700	C	G	ANKRD6	c.1142C>G	NM_001242811.1	NP_001229740.1:p.(Ser381Cys)	NC_000006.11:g.90333700C>G	VUS	1 lab	29a1cf7809
11:18313489 HPS5 A>G	11	18313489	18313489	A	G	HPS5	c.1940T>C	NM_181507.1	NP_852608.1:p.(Leu647Ser)	NC_000011.9:g.18313489A>G	VUS	1 lab	29a299c88b
20:55777595 BMP7 G>A	20	55777595	55777595	G	A	BMP7	c.696C>T	NM_001719.2	NP_001710.1:p.(Ser232=)	NC_000020.10:g.55777595G>A	(Likely) benign	1 lab	29a2e38212
17:48262885 COL1A1 A>G	17	48262885	48262885	A	G	COL1A1	c.4373T>C	NM_000088.3	NP_000079.2:p.(Val1458Ala)	NC_000017.10:g.48262885A>G	VUS	1 lab	29a3b86de9
17:29559858 NF1 TACTC>T	17	29559858	29559863	TACTC	T	NF1	c.3457_3460del	NM_001042492.3	NP_001035957.1:p.(Leu1153MetfsTer4)	NC_000017.10:g.29559860_29559863del	(Likely) pathogenic	1 lab	29a407887e
11:119212624 MFRP G>A	11	119212624	119212624	G	A	MFRP	c.1458C>T	NM_031433.3	NP_113621.1:p.(Asn486=)	NC_000011.9:g.119212624G>A	(Likely) benign	1 lab	29a67158f8
21:46930085 COL18A1 C>T	21	46930085	46930085	C	T	COL18A1	c.4839C>T	NM_130444.3	NP_569711.2:p.(Thr1613=)	NC_000021.8:g.46930085C>T	(Likely) benign	1 lab	29a72021ab
7:92130933 PEX1 G>A	7	92130933	92130933	G	A	PEX1	c.1847C>T	NM_001282678.1	NP_001269607.1:p.(Ala616Val)	NC_000007.13:g.92130933G>A	(Likely) benign	1 lab	29a7b09574
3:132221142 DNAJC13 C>T	3	132221142	132221142	C	T	DNAJC13	c.4561C>T	NM_001329126.1	NP_001316055.1:p.(Arg1521Cys)	NC_000003.11:g.132221142C>T	(Likely) benign	1 lab	29a80dbbc7
17:76568929 DNAH17 G>C	17	76568929	76568929	G	C	DNAH17	c.393C>G	NM_173628.3	NP_775899.3:p.(Pro131=)	NC_000017.10:g.76568929G>C	(Likely) benign	1 lab	29a85ec921
X:56590388 UBQLN2 G>C	X	56590388	56590388	G	C	UBQLN2	c.82G>C	NM_013444.3	NP_038472.2:p.(Ala28Pro)	NC_000023.10:g.56590388G>C	(Likely) benign	1 lab	29a9dcab3c
16:2103414 TSC2 C>T	16	2103414	2103414	C	T	TSC2	c.297C>T	NM_000548.3	NP_000539.2:p.(His99=)	NC_000016.9:g.2103414C>T	(Likely) benign	1 lab	29ab2c95e3
1:234614354 TARBP1 T>C	1	234614354	234614354	T	C	TARBP1	c.496A>G	NM_005646.4	NP_005637.3:p.(Thr166Ala)	NC_000001.10:g.234614354T>C	(Likely) benign	1 lab	29ac781391
6:144837937 UTRN A>T	6	144837937	144837937	A	T	UTRN	c.5404-10A>T	NM_007124.2	NP_009055.2:p.?	NC_000006.11:g.144837937A>T	(Likely) benign	1 lab	29adb0bbad
13:111102678 COL4A2 A>G	13	111102678	111102678	A	G	COL4A2	c.1216A>G	NM_001846.3	NP_001837.2:p.(Met406Val)	NC_000013.10:g.111102678A>G	VUS	1 lab	29adcc2600
6:112443347 LAMA4 G>A	6	112443347	112443347	G	A	LAMA4	c.4345C>T	NM_001105206.2	NP_001098676.2:p.(Arg1449Trp)	NC_000006.11:g.112443347G>A	VUS	1 lab	29af3a49cc
2:135616841 ACMSD A>C	2	135616841	135616841	A	C	ACMSD	c.113A>C	NM_138326.3	NP_612199.2:p.(Lys38Thr)	NC_000002.11:g.135616841A>C	(Likely) benign	1 lab	29b12cf055
19:36590385 WDR62 G>A	19	36590385	36590385	G	A	WDR62	c.2605G>A	NM_001083961.1	NP_001077430.1:p.(Gly869Ser)	NC_000019.9:g.36590385G>A	(Likely) benign	1 lab	29b14a011f
17:37822314 TCAP T>C	17	37822314	37822314	T	C	TCAP	c.456T>C	NM_003673.3	NP_003664.1:p.(Leu152=)	NC_000017.10:g.37822314T>C	(Likely) benign	1 lab	29b17bb098
11:107393268 ALKBH8 G>A	11	107393268	107393268	G	A	ALKBH8	c.1044C>T	NM_138775.2	NP_620130.2:p.(Val348=)	NC_000011.9:g.107393268G>A	(Likely) benign	1 lab	29b299c3e0
10:13325726 PHYH G>A	10	13325726	13325726	G	A	PHYH	c.492C>T	NM_001037537.1	NP_001032626.1:p.(His164=)	NC_000010.10:g.13325726G>A	(Likely) benign	1 lab	29b5ae08ba
16:56901022 SLC12A3 G>A	16	56901022	56901022	G	A	SLC12A3	c.323G>A	NM_000339.2	NP_000330.2:p.(Arg108Gln)	NC_000016.9:g.56901022G>A	(Likely) benign	1 lab	29b7ac4458
12:57422575 MYO1A T>C	12	57422575	57422575	T	C	MYO1A	c.3096A>G	NM_001256041.1	NP_001242970.1:p.(Lys1032=)	NC_000012.11:g.57422575T>C	(Likely) benign	1 lab	29b8a1d39a
11:6655520 DCHS1 C>T	11	6655520	6655520	C	T	DCHS1				NC_000011.9:g.6655520C>T	(Likely) benign	1 lab	29b8ad535d
5:1443274 SLC6A3 G>A	5	1443274	1443274	G	A	SLC6A3	c.39C>T	NM_001044.4	NP_001035.1:p.(Ser13=)	NC_000005.9:g.1443274G>A	(Likely) benign	1 lab	29b9ec0728
21:47863781 PCNT G>T	21	47863781	47863781	G	T	PCNT	c.9759G>T	NM_006031.5	NP_006022.3:p.(Arg3253=)	NC_000021.8:g.47863781G>T	(Likely) benign	1 lab	29bc5e4ebc
10:97990583 BLNK A>G	10	97990583	97990583	A	G	BLNK	c.171T>C	NM_013314.4	NP_037446.1:p.(Pro57=)	NC_000010.10:g.97990583A>G	(Likely) benign	1 lab	ea47219da5
1:87045631 CLCA4 G>A	1	87045631	87045631	G	A	CLCA4	c.2363G>A	NM_012128.4	NP_036260.2:p.(Arg788His)	NC_000001.10:g.87045631G>A	(Likely) benign	1 lab	29bdaf2d02
4:95173779 SMARCAD1 T>C	4	95173779	95173779	T	C	SMARCAD1	c.902T>C	NM_001128429.3	NP_001121901.1:p.(Val301Ala)	NC_000004.11:g.95173779T>C	(Likely) benign	1 lab	e7c3642b88
11:2905985 CDKN1C C>T	11	2905985	2905985	C	T	CDKN1C	c.735G>A	NM_000076.2	NP_000067.1:p.(Gly245=)	NC_000011.9:g.2905985C>T	(Likely) benign	1 lab	29be387e2a
11:76915263 MYO7A C>A	11	76915263	76915263	C	A	MYO7A	c.5469C>A	NM_000260.3	NP_000251.3:p.(Asp1823Glu)	NC_000011.9:g.76915263C>A	VUS	1 lab	29beb7ec36
8:63973886 TTPA G>T	8	63973886	63973886	G	T	TTPA	c.762C>A	NM_000370.3	NP_000361.1:p.(Asp254Glu)	NC_000008.10:g.63973886G>T	VUS	1 lab	29c04b8894
X:110653354 DCX C>CA	X	110653354	110653355	C	CA	DCX	c.272dup	NM_178153.2	NP_835366.1:p.(Ser92ValfsTer2)	NC_000023.10:g.110653355dup	(Likely) pathogenic	1 lab	29c1139cef
7:100646590 MUC12 G>A	7	100646590	100646590	G	A	MUC12	c.12746G>A	NM_001164462.1	NP_001157934.1:p.(Ser4249Asn)	NC_000007.13:g.100646590G>A	VUS	1 lab	29c16b9b44
11:60231809 MS4A1 A>G	11	60231809	60231809	A	G	MS4A1	c.328A>G	NM_152866.2	NP_690605.1:p.(Lys110Glu)	NC_000011.9:g.60231809A>G	(Likely) benign	1 lab	29c291fde6
18:29126374 DSG2 CA>C	18	29126374	29126376	CA	C	DSG2	c.3027del	NM_001943.5	NP_001934.2:p.(Asp1010MetfsTer7)	NC_000018.9:g.29126376del	VUS	1 lab	29c3c158f9
17:29486049 NF1 G>GA	17	29486049	29486056	G	GA	NF1	c.233dup	NM_000267.3	NP_000258.1:p.(Asn78LysfsTer29)	NC_000017.10:g.29486056dup	(Likely) pathogenic	1 lab	29c57506e3
17:7366349 ZBTB4 T>C	17	7366349	7366349	T	C	ZBTB4	c.1952A>G	NM_020899.3	NP_065950.2:p.(Asp651Gly)	NC_000017.10:g.7366349T>C	VUS	1 lab	29c6fc0529
17:5461698 NLRP1 C>T	17	5461698	5461698	C	T	NLRP1	c.2318G>A	NM_033004.4	NP_127497.1:p.(Arg773Lys)	NC_000017.10:g.5461698C>T	(Likely) benign	1 lab	29ca68a386
6:144872154 UTRN A>C	6	144872154	144872154	A	C	UTRN	c.6864A>C	NM_007124.2	NP_009055.2:p.(Thr2288=)	NC_000006.11:g.144872154A>C	(Likely) benign	1 lab	29cbbdab29
9:73151623 TRPM3 C>T	9	73151623	73151623	C	T	TRPM3				NC_000009.11:g.73151623C>T	VUS	1 lab	29ccce818b
9:70177977 FOXD4L5 G>T	9	70177977	70177977	G	T	FOXD4L5	c.7C>A	NM_001126334.1	NP_001119806.1:p.(Leu3Met)	NC_000009.11:g.70177977G>T	(Likely) benign	1 lab	29cfa71124
6:44278087 AARS2 G>A	6	44278087	44278087	G	A	AARS2	c.843C>T	NM_020745.3	NP_065796.1:p.(His281=)	NC_000006.11:g.44278087G>A	(Likely) benign	1 lab	29d2969c70
8:38884324 ADAM9 A>G	8	38884324	38884324	A	G	ADAM9	c.1125A>G	NM_003816.2	NP_003807.1:p.(Gly375=)	NC_000008.10:g.38884324A>G	(Likely) benign	1 lab	29d5ae1feb
4:126241764 FAT4 C>T	4	126241764	126241764	C	T	FAT4	c.4198C>T	NM_001291303.1	NP_001278232.1:p.(Arg1400Cys)	NC_000004.11:g.126241764C>T	VUS	1 lab	29d5b3f658
X:70783239 OGT G>A	X	70783239	70783239	G	A	OGT	c.2326G>A	NM_181672.3	NP_858058.1:p.(Val776Ile)	NC_000023.10:g.70783239G>A	VUS	1 lab	29d5b835a4
6:73110282 RIMS1 T>A	6	73110282	73110282	T	A	RIMS1	c.4945T>A	NM_014989.5	NP_055804.2:p.(Ser1649Thr)	NC_000006.11:g.73110282T>A	VUS	1 lab	29d79f9bb9
16:89715814 CHMP1A G>A	16	89715814	89715814	G	A	CHMP1A	c.177C>T	NM_001083314.3	NP_001076783.1:p.(Gly59=)	NC_000016.9:g.89715814G>A	(Likely) benign	1 lab	29d894e28a
9:114190343 ECPAS T>C	9	114190343	114190343	T	C	ECPAS	c.1029A>G	NM_001364929.1	NP_001351858.1:p.(Glu343=)	NC_000009.11:g.114190343T>C	(Likely) benign	1 lab	29da159f51
15:40901074 KNL1 C>T	15	40901074	40901074	C	T	KNL1	c.165C>T	NM_170589.4	NP_733468.3:p.(Asn55=)	NC_000015.9:g.40901074C>T	(Likely) benign	1 lab	29da36873a
2:179437342 TTN C>T	2	179437342	179437342	C	T	TTN	c.73517G>A	NM_001267550.1	NP_001254479.1:p.(Gly24506Asp)	NC_000002.11:g.179437342C>T	VUS	1 lab	29da369064
15:89806689 FANCI C>T	15	89806689	89806689	C	T	FANCI	c.543C>T	NM_001113378.1	NP_001106849.1:p.(Phe181=)	NC_000015.9:g.89806689C>T	(Likely) benign	1 lab	29db5a8113
15:63354431 TPM1 C>T	15	63354431	63354431	C	T	TPM1	c.549C>T	NM_001330351.1	NP_001317280.1:p.(Asp183=)	NC_000015.9:g.63354431C>T	(Likely) benign	1 lab	29dc4f785c
6:152746654 SYNE1 G>T	6	152746654	152746654	G	T	SYNE1	c.5129C>A	NM_182961.3	NP_892006.3:p.(Ala1710Asp)	NC_000006.11:g.152746654G>T	VUS	1 lab	29dc51820b
15:41372110 INO80 C>T	15	41372110	41372110	C	T	INO80	c.928-8G>A	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41372110C>T	(Likely) benign	1 lab	29dd393064
13:113768274 F7 C>G	13	113768274	113768274	C	G	F7	c.430C>G	NM_000131.4	NP_000122.1:p.(His144Asp)	NC_000013.10:g.113768274C>G	(Likely) benign	1 lab	29de6b894f
5:70818773 BDP1 C>A	5	70818773	70818773	C	A	BDP1	c.5384C>A	NM_018429.2	NP_060899.2:p.(Thr1795Lys)	NC_000005.9:g.70818773C>A	VUS	1 lab	29de6db52a
11:18318522 HPS5 T>C	11	18318522	18318522	T	C	HPS5	c.1333A>G	NM_181507.1	NP_852608.1:p.(Ser445Gly)	NC_000011.9:g.18318522T>C	VUS	1 lab	29dea7a69a
1:207649706 CR2 G>A	1	207649706	207649706	G	A	CR2	c.2844G>A	NM_001006658.2	NP_001006659.1:p.(Glu948=)	NC_000001.10:g.207649706G>A	(Likely) benign	1 lab	29df565def
3:14183242 TMEM43 C>T	3	14183242	14183242	C	T	TMEM43	c.1150C>T	NM_024334.2	NP_077310.1:p.(Leu384Phe)	NC_000003.11:g.14183242C>T	(Likely) benign	1 lab	29e0b18f3b
1:155210478 GBA1 T>G	1	155210478	155210478	T	G	GBA1	c.58A>C	NM_001005741.2	NP_001005741.1:p.(Ile20Leu)	NC_000001.10:g.155210478T>G	(Likely) benign	1 lab	29e0c4497d
X:38260550 OTC G>A	X	38260550	38260550	G	A	OTC	c.409G>A	NM_000531.5	NP_000522.3:p.(Ala137Thr)	NC_000023.10:g.38260550G>A	VUS	1 lab	29e11d4d5c
X:49336224 GAGE12G A>G	X	49336224	49336224	A	G	GAGE12G	c.67A>G	NM_001098409.2	NP_001091879.1:p.(Met23Val)	NC_000023.10:g.49336224A>G	(Likely) benign	1 lab	29e1402697
13:20593731 ZMYM2 G>A	13	20593731	20593731	G	A	ZMYM2	c.1557G>A	NM_003453.6	NP_003444.1:p.(Met519Ile)	NC_000013.10:g.20593731G>A	(Likely) benign	1 lab	e7ca726a8f
X:84362401 SATL1 C>T	X	84362401	84362401	C	T	SATL1	c.1574G>A	NM_001012980.2	NP_001012998.2:p.(Ser525Asn)	NC_000023.10:g.84362401C>T	(Likely) benign	1 lab	29e4b79972
X:8138093 VCX2 C>T	X	8138093	8138093	C	T	VCX2	c.400G>A	NM_016378.3	NP_057462.2:p.(Val134Ile)	NC_000023.10:g.8138093C>T	(Likely) benign	1 lab	29e4f85145
14:105420250 AHNAK2 C>T	14	105420250	105420250	C	T	AHNAK2	c.1538G>A	NM_138420.3	NP_612429.2:p.(Arg513Gln)	NC_000014.8:g.105420250C>T	(Likely) benign	1 lab	29e97bb5fb
17:29556097 NF1 G>T	17	29556097	29556097	G	T	NF1	c.2464G>T	NM_000267.3	NP_000258.1:p.(Gly822Ter)	NC_000017.10:g.29556097G>T	(Likely) pathogenic	1 lab	29ecc7fcf4
20:49195709 PTPN1 A>G	20	49195709	49195709	A	G	PTPN1	c.707A>G	NM_002827.3	NP_002818.1:p.(Asp236Gly)	NC_000020.10:g.49195709A>G	VUS	1 lab	29ed4de905
4:15482846 CC2D2A G>A	4	15482846	15482846	G	A	CC2D2A	c.273G>A	NM_001164720.1	NP_001158192.1:p.(Leu91=)	NC_000004.11:g.15482846G>A	(Likely) benign	1 lab	29ee9ab170
X:1413266 CSF2RA C>T	X	1413266	1413266	C	T	CSF2RA	c.692C>T	NM_006140.6	NP_006131.2:p.(Thr231Met)	NC_000023.10:g.1413266C>T	VUS	1 lab	e7cddbdc94
14:21052216 RNASE11 C>A	14	21052216	21052216	C	A	RNASE11	c.418G>T	NM_145250.3	NP_660293.1:p.(Val140Leu)	NC_000014.8:g.21052216C>A	(Likely) benign	1 lab	29ef7c2323
6:24174955 DCDC2 G>C	6	24174955	24174955	G	C	DCDC2	c.*3C>G	NM_016356.5	NP_057440.2:p.?	NC_000006.11:g.24174955G>C	(Likely) benign	1 lab	e7d1c5c9f2
1:146418234 MISSING C>T	1	146418234	146418234	C	T	MISSING				NC_000001.10:g.146418234C>T	(Likely) benign	1 lab	29f113d1a9
19:44223766 IRGC C>T	19	44223766	44223766	C	T	IRGC	c.1056C>T	NM_019612.4	NP_062558.1:p.(Asp352=)	NC_000019.9:g.44223766C>T	(Likely) benign	1 lab	29f20db480
10:104156535 NFKB2 C>T	10	104156535	104156535	C	T	NFKB2	c.198C>T	NM_001288724.1	NP_001275653.1:p.(Pro66=)	NC_000010.10:g.104156535C>T	(Likely) benign	1 lab	29f72da3b3
12:133197094 P2RX2 C>T	12	133197094	133197094	C	T	P2RX2	c.592C>T	NM_001282164.1	NP_001269093.1:p.(Pro198Ser)	NC_000012.11:g.133197094C>T	(Likely) benign	1 lab	29f938ca76
15:63336346 TPM1 A>G	15	63336346	63336346	A	G	TPM1	c.235A>G	NM_001018005.1	NP_001018005.1:p.(Thr79Ala)	NC_000015.9:g.63336346A>G	VUS	1 lab	29f95f9c5a
4:651266 PDE6B G>A	4	651266	651266	G	A	PDE6B	c.1384G>A	NM_000283.3	NP_000274.2:p.(Glu462Lys)	NC_000004.11:g.651266G>A	VUS	1 lab	29fb8e39fe
16:30990530 SETD1A G>A	16	30990530	30990530	G	A	SETD1A	c.3423G>A	NM_014712.2	NP_055527.1:p.(Pro1141=)	NC_000016.9:g.30990530G>A	(Likely) benign	1 lab	29fb961556
7:5770330 RNF216 T>C	7	5770330	5770330	T	C	RNF216	c.1224+16A>G	NM_207111.3	NP_996994.1:p.?	NC_000007.13:g.5770330T>C	(Likely) benign	1 lab	29fc0e9703
10:16960671 CUBN C>T	10	16960671	16960671	C	T	CUBN	c.6950G>A	NM_001081.3	NP_001072.2:p.(Arg2317Gln)	NC_000010.10:g.16960671C>T	(Likely) benign	1 lab	29fc452809
11:78523350 TENM4 C>T	11	78523350	78523350	C	T	TENM4	c.1795G>A	NM_001098816.2	NP_001092286.2:p.(Val599Met)	NC_000011.9:g.78523350C>T	VUS	1 lab	29fcb1104e
X:64748149 LAS1L C>T	X	64748149	64748149	C	T	LAS1L	c.947G>A	NM_031206.4	NP_112483.1:p.(Cys316Tyr)	NC_000023.10:g.64748149C>T	(Likely) benign	1 lab	29fcc0a29a
5:179223263 LTC4S G>A	5	179223263	179223263	G	A	LTC4S	c.321G>A	NM_145867.1	NP_665874.1:p.(Pro107=)	NC_000005.9:g.179223263G>A	(Likely) benign	1 lab	29fe0b49ff
2:47693891 MSH2 C>T	2	47693891	47693891	C	T	MSH2	c.1605C>T	NM_000251.2	NP_000242.1:p.(Asn535=)	NC_000002.11:g.47693891C>T	(Likely) benign	1 lab	29fe2678e8
17:60033066 MED13 C>A	17	60033066	60033066	C	A	MED13	c.5757G>T	NM_005121.3	NP_005112.2:p.(Pro1919=)	NC_000017.10:g.60033066C>A	(Likely) benign	1 lab	e7d8eeafd7
1:206944736 IL10 A>G	1	206944736	206944736	A	G	IL10	c.190T>C	NM_000572.3	NP_000563.1:p.(Leu64=)	NC_000001.10:g.206944736A>G	(Likely) benign	1 lab	29ffe919f2
3:38622552 SCN5A T>C	3	38622552	38622552	T	C	SCN5A	c.3098A>G	NM_001099404.1	NP_001092874.1:p.(Gln1033Arg)	NC_000003.11:g.38622552T>C	(Likely) benign	1 lab	2a00cb3e11
10:73562743 CDH23 C>T	10	73562743	73562743	C	T	CDH23	c.7571C>T	NM_022124.5	NP_071407.4:p.(Ala2524Val)	NC_000010.10:g.73562743C>T	VUS	1 lab	2a0311b662
2:179474894 TTN C>T	2	179474894	179474894	C	T	TTN	c.51359G>A	NM_001267550.2	NP_001254479.2:p.(Arg17120His)	NC_000002.11:g.179474894C>T	VUS	1 lab	e7d954c240
20:14665520 MACROD2 C>T	20	14665520	14665520	C	T	MACROD2	c.333C>T	NM_080676.5	NP_542407.2:p.(Pro111=)	NC_000020.10:g.14665520C>T	(Likely) benign	1 lab	2a0597e2c7
7:103234805 RELN T>C	7	103234805	103234805	T	C	RELN	c.3674A>G	NM_005045.4	NP_005036.2:p.(Lys1225Arg)	NC_000007.13:g.103234805T>C	VUS	1 lab	e7e2efd780
13:103518170 ERCC5 A>G	13	103518170	103518170	A	G	ERCC5	c.2108A>G	NM_000123.3	NP_000114.2:p.(Asp703Gly)	NC_000013.10:g.103518170A>G	(Likely) benign	1 lab	2a07c4a6d9
2:3653844 COLEC11 T>C	2	3653844	3653844	T	C	COLEC11	c.42+1784T>C	NM_199235.3	NP_954705.1:p.?	NC_000002.11:g.3653844T>C	(Likely) benign	1 lab	e7e529d2ce
1:152275928 FLG C>T	1	152275928	152275928	C	T	FLG	c.11434G>A	NM_002016.1	NP_002007.1:p.(Glu3812Lys)	NC_000001.10:g.152275928C>T	(Likely) benign	1 lab	2a08206583
10:73437319 CDH23 G>A	10	73437319	73437319	G	A	CDH23	c.1621G>A	NM_022124.5	NP_071407.4:p.(Glu541Lys)	NC_000010.10:g.73437319G>A	VUS	1 lab	2a091865d4
22:18291663 MICAL3 C>T	22	18291663	18291663	C	T	MICAL3	c.5597G>A	NM_015241.3	NP_056056.2:p.(Arg1866Gln)	NC_000022.10:g.18291663C>T	VUS	1 lab	2a098b7b9c
15:67473607 SMAD3 G>A	15	67473607	67473607	G	A	SMAD3	c.687G>A	NM_005902.3	NP_005893.1:p.(Pro229=)	NC_000015.9:g.67473607G>A	(Likely) benign	1 lab	2a0b2aacd9
16:30977272 SETD1A C>T	16	30977272	30977272	C	T	SETD1A	c.2070C>T	NM_014712.2	NP_055527.1:p.(Leu690=)	NC_000016.9:g.30977272C>T	(Likely) benign	1 lab	2a0c595f55
11:613826 IRF7 G>C	11	613826	613826	G	C	IRF7	c.845C>G	NM_004031.3	NP_004022.2:p.(Pro282Arg)	NC_000011.9:g.613826G>C	VUS	1 lab	2a0eab6bfa
21:33688849 URB1 C>G	21	33688849	33688849	C	G	URB1	c.6562G>C	NM_014825.3	NP_055640.2:p.(Gly2188Arg)	NC_000021.8:g.33688849C>G	(Likely) benign	1 lab	2a0fa355fe
3:38592324 SCN5A G>A	3	38592324	38592324	G	A	SCN5A	c.5539C>T	NM_001099404.1	NP_001092874.1:p.(Arg1847Cys)	NC_000003.11:g.38592324G>A	VUS	1 lab	2a102a549f
3:33055638 GLB1 G>C	3	33055638	33055638	G	C	GLB1	c.1788C>G	NM_001317040.1	NP_001303969.1:p.(Leu596=)	NC_000003.11:g.33055638G>C	(Likely) benign	1 lab	2a12832f92
3:159997079 IFT80 G>A	3	159997079	159997079	G	A	IFT80	c.1327C>T	NM_001190241.1	NP_001177170.1:p.(Leu443=)	NC_000003.11:g.159997079G>A	(Likely) benign	1 lab	2a134bbcbe
16:89346496 ANKRD11 C>T	16	89346496	89346496	C	T	ANKRD11	c.6454G>A	NM_001256182.1	NP_001243111.1:p.(Glu2152Lys)	NC_000016.9:g.89346496C>T	(Likely) benign	1 lab	2a15166c28
21:33671388 MRAP CG>C	21	33671388	33671389	CG	C	MRAP	c.106+1del	NM_001379228.1	NP_001366157.1:p.?	NC_000021.8:g.33671389del	(Likely) pathogenic	1 lab	2a1547bf14
19:10367416 MRPL4 G>A	19	10367416	10367416	G	A	MRPL4	c.360G>A	NM_146388.1	NP_666500.1:p.(Val120=)	NC_000019.9:g.10367416G>A	(Likely) benign	1 lab	2a16eab401
9:126135512 CRB2 G>A	9	126135512	126135512	G	A	CRB2	c.2702G>A	NM_173689.6	NP_775960.4:p.(Arg901His)	NC_000009.11:g.126135512G>A	VUS	1 lab	2a17e12866
20:46318897 SULF2 C>G	20	46318897	46318897	C	G	SULF2	c.710G>C	NM_001161841.1	NP_001155313.1:p.(Arg237Pro)	NC_000020.10:g.46318897C>G	(Likely) benign	1 lab	2a18c2de82
1:43891729 SZT2 A>G	1	43891729	43891729	A	G	SZT2	c.2950A>G	NM_001365999.1	NP_001352928.1:p.(Thr984Ala)	NC_000001.10:g.43891729A>G	(Likely) benign	1 lab	2a1949d79c
10:16943442 CUBN C>G	10	16943442	16943442	C	G	CUBN	c.8079G>C	NM_001081.3	NP_001072.2:p.(Gln2693His)	NC_000010.10:g.16943442C>G	VUS	1 lab	2a19689503
11:102100572 YAP1 A>G	11	102100572	102100572	A	G	YAP1	c.1428A>G	NM_001282101.1	NP_001269030.1:p.(Pro476=)	NC_000011.9:g.102100572A>G	(Likely) benign	1 lab	2a1a433c5e
16:1507755 CLCN7 C>T	16	1507755	1507755	C	T	CLCN7	c.678G>A	NM_001287.5	NP_001278.1:p.(Thr226=)	NC_000016.9:g.1507755C>T	(Likely) benign	1 lab	2a1aab0bfb
17:79478545 ACTG1 G>A	17	79478545	79478545	G	A	ACTG1	c.471C>T	NM_001199954.2	NP_001186883.1:p.(Asp157=)	NC_000017.10:g.79478545G>A	(Likely) benign	1 lab	2a1b501480
X:122799588 THOC2 C>T	X	122799588	122799588	C	T	THOC2	c.1291G>A	NM_001081550.1	NP_001075019.1:p.(Val431Met)	NC_000023.10:g.122799588C>T	VUS	1 lab	2a1b95b621
10:71158532 HK1 C>G	10	71158532	71158532	C	G	HK1	c.2662C>G	NM_001322365.1	NP_001309294.1:p.(Arg888Gly)	NC_000010.10:g.71158532C>G	(Likely) benign	1 lab	2a1cc8e3d4
X:151869559 MAGEA6 C>T	X	151869559	151869559	C	T	MAGEA6	c.249C>T	NM_175868.2	NP_787064.1:p.(Ser83=)	NC_000023.10:g.151869559C>T	(Likely) benign	1 lab	2a1e52f489
19:2115599 AP3D1 G>T	19	2115599	2115599	G	T	AP3D1	c.2087C>A	NM_001261826.3	NP_001248755.1:p.(Thr696Asn)	NC_000019.9:g.2115599G>T	(Likely) benign	1 lab	2a1f086254
18:43490486 EPG5 C>T	18	43490486	43490486	C	T	EPG5	c.4205G>A	NM_020964.3	NP_066015.2:p.(Arg1402Lys)	NC_000018.9:g.43490486C>T	VUS	1 lab	2a1f1576c8
3:10413606 ATP2B2 C>G	3	10413606	10413606	C	G	ATP2B2	c.1411G>C	NM_001330611.2	NP_001317540.1:p.(Val471Leu)	NC_000003.11:g.10413606C>G	(Likely) benign	1 lab	2a1ff38bd5
10:79741283 POLR3A G>T	10	79741283	79741283	G	T	POLR3A	c.3794C>A	NM_007055.3	NP_008986.2:p.(Thr1265Lys)	NC_000010.10:g.79741283G>T	(Likely) benign	1 lab	2a20c88c22
1:154562364 ADAR A>G	1	154562364	154562364	A	G	ADAR	c.1652T>C	NM_001193495.2	NP_001180424.1:p.(Met551Thr)	NC_000001.10:g.154562364A>G	VUS	1 lab	2a22d62244
17:18057106 MYO15A C>G	17	18057106	18057106	C	G	MYO15A	c.7984C>G	NM_016239.3	NP_057323.3:p.(Leu2662Val)	NC_000017.10:g.18057106C>G	VUS	1 lab	2a23168a76
15:25601198 UBE3A T>C	15	25601198	25601198	T	C	UBE3A	c.1905A>G	NM_001354543.1	NP_001341472.1:p.(Leu635=)	NC_000015.9:g.25601198T>C	(Likely) benign	1 lab	2a23e0f00f
12:2027413 CACNA2D4 G>A	12	2027413	2027413	G	A	CACNA2D4	c.227C>T	NM_172364.4	NP_758952.4:p.(Thr76Ile)	NC_000012.11:g.2027413G>A	VUS	1 lab	2a2547e220
X:128887160 XPNPEP2 C>A	X	128887160	128887160	C	A	XPNPEP2	c.1043C>A	NM_003399.5	NP_003390.4:p.(Ser348Tyr)	NC_000023.10:g.128887160C>A	VUS	1 lab	2a25b8d44a
3:113375167 USF3 G>A	3	113375167	113375167	G	A	USF3	c.5362C>T	NM_001009899.3	NP_001009899.3:p.(Arg1788Cys)	NC_000003.11:g.113375167G>A	VUS	1 lab	2a25cde6cb
X:77126427 MAGT1 A>G	X	77126427	77126427	A	G	MAGT1	c.273-5T>C	NM_001367916.1	NP_001354845.1:p.?	NC_000023.10:g.77126427A>G	(Likely) benign	1 lab	2a25f834ec
6:121768878 GJA1 T>C	6	121768878	121768878	T	C	GJA1	c.885T>C	NM_000165.5	NP_000156.1:p.(Asn295=)	NC_000006.11:g.121768878T>C	(Likely) benign	1 lab	2a262d25ea
21:46131379 TSPEAR G>A	21	46131379	46131379	G	A	TSPEAR	c.51C>T	NM_144991.2	NP_659428.2:p.(Gly17=)	NC_000021.8:g.46131379G>A	(Likely) benign	1 lab	2a287a193a
18:13056666 CEP192 A>G	18	13056666	13056666	A	G	CEP192	c.4077A>G	NM_032142.4	NP_115518.3:p.(Glu1359=)	NC_000018.9:g.13056666A>G	(Likely) benign	1 lab	2a292aa297
2:170344333 BBS5 A>G	2	170344333	170344333	A	G	BBS5	c.226A>G	NM_152384.2	NP_689597.1:p.(Ile76Val)	NC_000002.11:g.170344333A>G	VUS	1 lab	2a2eb5be36
X:100075415 CSTF2 T>G	X	100075415	100075415	T	G	CSTF2	c.10T>G	NM_001306206.1	NP_001293135.1:p.(Leu4Val)	NC_000023.10:g.100075415T>G	(Likely) benign	1 lab	2a2f253ad0
2:240002814 HDAC4 G>A	2	240002814	240002814	G	A	HDAC4	c.2712C>T	NM_006037.3	NP_006028.2:p.(Asp904=)	NC_000002.11:g.240002814G>A	(Likely) benign	1 lab	2a2f5b32a2
X:78216689 P2RY10 C>T	X	78216689	78216689	C	T	P2RY10	c.672C>T	NM_001324218.1	NP_001311147.1:p.(Ser224=)	NC_000023.10:g.78216689C>T	(Likely) benign	1 lab	2a305b74df
3:69988347 MITF G>C	3	69988347	69988347	G	C	MITF	c.666+15G>C	NM_198159.3	NP_937802.1:p.?	NC_000003.11:g.69988347G>C	(Likely) benign	1 lab	e7ee5479d0
17:8789554 PIK3R5 T>C	17	8789554	8789554	T	C	PIK3R5	c.962A>G	NM_001251851.1	NP_001238780.1:p.(Lys321Arg)	NC_000017.10:g.8789554T>C	VUS	1 lab	2a30f89283
7:91864911 KRIT1 G>A	7	91864911	91864911	G	A	KRIT1	c.535C>T	NM_004912.4	NP_004903.2:p.(Arg179Ter)	NC_000007.13:g.91864911G>A	(Likely) pathogenic	1 lab	2a314f19bf
15:66727521 MAP2K1 C>T	15	66727521	66727521	C	T	MAP2K1	c.237C>T	NM_002755.3	NP_002746.1:p.(Gly79=)	NC_000015.9:g.66727521C>T	(Likely) benign	1 lab	2a32fdd34c
8:87679358 CNGB3 C>A	8	87679358	87679358	C	A	CNGB3	c.647G>T	NM_019098.4	NP_061971.3:p.(Arg216Leu)	NC_000008.10:g.87679358C>A	VUS	1 lab	2a33b374e4
12:56495092 ERBB3 G>A	12	56495092	56495092	G	A	ERBB3	c.3449G>A	NM_001982.3	NP_001973.2:p.(Gly1150Glu)	NC_000012.11:g.56495092G>A	VUS	1 lab	2a3476005b
8:17796376 PCM1 C>T	8	17796376	17796376	C	T	PCM1	c.470C>T	NM_006197.3	NP_006188.3:p.(Ser157Phe)	NC_000008.10:g.17796376C>T	(Likely) benign	1 lab	2a3558d54c
12:48367264 COL2A1 C>T	12	48367264	48367264	C	T	COL2A1	c.4390G>A	NM_001844.4	NP_001835.3:p.(Asp1464Asn)	NC_000012.11:g.48367264C>T	VUS	1 lab	2a385d491e
15:101113884 LINS1 T>C	15	101113884	101113884	T	C	LINS1	c.447A>G	NM_001352507.1	NP_001339436.1:p.(Gln149=)	NC_000015.9:g.101113884T>C	(Likely) benign	1 lab	2a38db0369
16:67670615 CTCF C>T	16	67670615	67670615	C	T	CTCF	c.1860C>T	NM_006565.3	NP_006556.1:p.(Asp620=)	NC_000016.9:g.67670615C>T	(Likely) benign	1 lab	2a3a1b0f98
11:6647459 DCHS1 G>A	11	6647459	6647459	G	A	DCHS1				NC_000011.9:g.6647459G>A	(Likely) benign	1 lab	2a3a896cfe
12:14018742 GRIN2B A>G	12	14018742	14018742	A	G	GRIN2B	c.401T>C	NM_000834.4	NP_000825.2:p.(Met134Thr)	NC_000012.11:g.14018742A>G	VUS	1 lab	2a3ba023e9
4:79393428 FRAS1 A>G	4	79393428	79393428	A	G	FRAS1	c.7466A>G	NM_025074.7	NP_079350.5:p.(His2489Arg)	NC_000004.11:g.79393428A>G	VUS	1 lab	2a3cd31115
1:23419374 LUZP1 G>T	1	23419374	23419374	G	T	LUZP1	c.1381C>A	NM_033631.3	NP_361013.3:p.(Gln461Lys)	NC_000001.10:g.23419374G>T	(Likely) benign	1 lab	2a3e34310c
3:4687307 ITPR1 T>G	3	4687307	4687307	T	G	ITPR1	c.750T>G	NM_001168272.1	NP_001161744.1:p.(Phe250Leu)	NC_000003.11:g.4687307T>G	VUS	1 lab	2a413366bd
16:30975613 SETD1A C>T	16	30975613	30975613	C	T	SETD1A	c.838C>T	NM_014712.3	NP_055527.1:p.(Pro280Ser)	NC_000016.9:g.30975613C>T	VUS	1 lab	e7effdfff4
6:7189476 RREB1 A>G	6	7189476	7189476	A	G	RREB1	c.346A>G	NM_001003699.4	NP_001003699.1:p.(Met116Val)	NC_000006.11:g.7189476A>G	VUS	1 lab	e7f02f801e
17:8792093 PIK3R5 G>A	17	8792093	8792093	G	A	PIK3R5	c.1011C>T	NM_014308.3	NP_055123.2:p.(Asp337=)	NC_000017.10:g.8792093G>A	(Likely) benign	1 lab	2a44c29756
1:240370965 FMN2 GGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA>G	1	240370965	240370999	GGCAATACCCCCTCCGCCCCCTCTTCCCGGGGCA	G	FMN2	c.2855_2887del	NM_020066.5	NP_064450.3:p.(Ala952_Ala962del)	NC_000001.10:g.240370967_240370999del	(Likely) benign	1 lab	2a450438fa
X:53576097 HUWE1 G>C	X	53576097	53576097	G	C	HUWE1	c.9858C>G	NM_031407.6	NP_113584.3:p.(Leu3286=)	NC_000023.10:g.53576097G>C	(Likely) benign	1 lab	2a46f5dfdd
7:92123683 PEX1 C>T	7	92123683	92123683	C	T	PEX1	c.2330G>A	NM_001282678.1	NP_001269607.1:p.(Arg777His)	NC_000007.13:g.92123683C>T	VUS	1 lab	2a484d8eb9
10:70765431 KIFBP GA>G	10	70765431	70765443	GA	G	KIFBP	c.606-45del	NM_015634.4	NP_056449.1:p.?	NC_000010.10:g.70765443del	(Likely) benign	1 lab	2a48afefd5
1:29527085 MECR C>A	1	29527085	29527085	C	A	MECR	c.545G>T	NM_001024732.3	NP_001019903.3:p.(Arg182Leu)	NC_000001.10:g.29527085C>A	(Likely) benign	1 lab	2a49d67151
2:152463153 NEB C>T	2	152463153	152463153	C	T	NEB	c.12714G>A	NM_001271208.1	NP_001258137.1:p.(Lys4238=)	NC_000002.11:g.152463153C>T	(Likely) benign	1 lab	2a49fa6a1d
9:137726832 COL5A1 G>A	9	137726832	137726832	G	A	COL5A1	c.5152G>A	NM_000093.4	NP_000084.3:p.(Ala1718Thr)	NC_000009.11:g.137726832G>A	VUS	1 lab	2a4ad3d9d8
14:76948456 ESRRB T>C	14	76948456	76948456	T	C	ESRRB	c.612T>C	NM_004452.3	NP_004443.3:p.(Pro204=)	NC_000014.8:g.76948456T>C	(Likely) benign	1 lab	2a4b2a2e62
1:19415317 UBR4 C>T	1	19415317	19415317	C	T	UBR4	c.14366G>A	NM_020765.2	NP_065816.2:p.(Arg4789Gln)	NC_000001.10:g.19415317C>T	VUS	1 lab	2a4e72d006
7:141754563 MGAM C>T	7	141754563	141754563	C	T	MGAM	c.3169C>T	NM_004668.2	NP_004659.2:p.(Pro1057Ser)	NC_000007.13:g.141754563C>T	(Likely) benign	1 lab	2a4eeed06f
3:48602254 COL7A1 C>A	3	48602254	48602254	C	A	COL7A1	c.8780G>T	NM_000094.3	NP_000085.1:p.(Arg2927Leu)	NC_000003.11:g.48602254C>A	(Likely) benign	1 lab	2a506f99f8
1:154558341 ADAR C>A	1	154558341	154558341	C	A	ADAR	c.2318G>T	NM_001193495.2	NP_001180424.1:p.(Gly773Val)	NC_000001.10:g.154558341C>A	VUS	1 lab	2a51a6c6c9
17:79478469 ACTG1 G>A	17	79478469	79478469	G	A	ACTG1	c.547C>T	NM_001199954.2	NP_001186883.1:p.(Arg183Trp)	NC_000017.10:g.79478469G>A	VUS	1 lab	2a5272d1ea
10:79785876 POLR3A T>C	10	79785876	79785876	T	C	POLR3A	c.156A>G	NM_007055.3	NP_008986.2:p.(Leu52=)	NC_000010.10:g.79785876T>C	(Likely) benign	1 lab	2a54e6680b
1:152283670 FLG C>A	1	152283670	152283670	C	A	FLG	c.3692G>T	NM_002016.2	NP_002007.1:p.(Arg1231Met)	NC_000001.10:g.152283670C>A	VUS	1 lab	e7f0f963c0
X:53265639 IQSEC2 C>T	X	53265639	53265639	C	T	IQSEC2	c.3316G>A	NM_001111125.2	NP_001104595.1:p.(Ala1106Thr)	NC_000023.10:g.53265639C>T	(Likely) benign	1 lab	2a566d41a5
X:7811675 VCX C>G	X	7811675	7811675	C	G	VCX	c.239C>G	NM_013452.2	NP_038480.2:p.(Pro80Arg)	NC_000023.10:g.7811675C>G	VUS	1 lab	2a56e7fce8
4:55569954 KIT C>T	4	55569954	55569954	C	T	KIT	c.821C>T	NM_000222.2	NP_000213.1:p.(Thr274Met)	NC_000004.11:g.55569954C>T	(Likely) benign	1 lab	2a5a99cace
14:58895075 KIAA0586 T>TC	14	58895075	58895076	T	TC	KIAA0586	c.94dup	NM_001329943.2	NP_001316872.1:p.(His32ProfsTer8)	NC_000014.8:g.58895076dup	(Likely) pathogenic	1 lab	2a5ad9fd46
19:9077735 MUC16 G>A	19	9077735	9077735	G	A	MUC16	c.9711C>T	NM_024690.2	NP_078966.2:p.(Pro3237=)	NC_000019.9:g.9077735G>A	(Likely) benign	1 lab	2a5be9f124
19:55255407 MISSING G>A	19	55255407	55255407	G	A	MISSING				NC_000019.9:g.55255407G>A	(Likely) benign	1 lab	2a5cb58e35
8:10469901 RP1L1 G>A	8	10469901	10469901	G	A	RP1L1	c.1707C>T	NM_178857.5	NP_849188.4:p.(Ser569=)	NC_000008.10:g.10469901G>A	(Likely) benign	1 lab	2a5cd915e2
11:67188584 CARNS1 G>C	11	67188584	67188584	G	C	CARNS1	c.1520G>C	NM_001166222.1	NP_001159694.1:p.(Arg507Pro)	NC_000011.9:g.67188584G>C	VUS	1 lab	2a5d01db8a
4:79418016 FRAS1 T>C	4	79418016	79418016	T	C	FRAS1	c.9016T>C	NM_025074.7	NP_079350.5:p.(Phe3006Leu)	NC_000004.11:g.79418016T>C	VUS	1 lab	2a5d40826d
10:72358366 PRF1 T>C	10	72358366	72358366	T	C	PRF1	c.1111A>G	NM_001083116.1	NP_001076585.1:p.(Arg371Gly)	NC_000010.10:g.72358366T>C	VUS	1 lab	2a5f350b39
19:34002004 PEPD C>T	19	34002004	34002004	C	T	PEPD	c.259G>A	NM_000285.3	NP_000276.2:p.(Asp87Asn)	NC_000019.9:g.34002004C>T	(Likely) benign	1 lab	2a62e7998b
9:135796816 TSC1 A>C	9	135796816	135796816	A	C	TSC1	c.671T>G	NM_000368.4	NP_000359.1:p.(Met224Arg)	NC_000009.11:g.135796816A>C	(Likely) pathogenic	1 lab	2a62ffe344
5:90002142 ADGRV1 C>G	5	90002142	90002142	C	G	ADGRV1	c.8661C>G	NM_032119.4	NP_115495.3:p.(Val2887=)	NC_000005.9:g.90002142C>G	(Likely) benign	1 lab	2a63109f73
X:132440074 GPC4 T>C	X	132440074	132440074	T	C	GPC4	c.986A>G	NM_001448.2	NP_001439.2:p.(Asn329Ser)	NC_000023.10:g.132440074T>C	VUS	1 lab	2a634f354b
12:123464766 ARL6IP4 G>A	12	123464766	123464766	G	A	ARL6IP4	c.15G>A	NM_001002252.2	NP_001002252.2:p.(Thr5=)	NC_000012.11:g.123464766G>A	(Likely) benign	1 lab	2a6517c0fa
19:38993329 RYR1 G>A	19	38993329	38993329	G	A	RYR1	c.7797G>A	NM_000540.2	NP_000531.2:p.(Gln2599=)	NC_000019.9:g.38993329G>A	(Likely) benign	1 lab	2aa311c475
1:197071831 ASPM G>A	1	197071831	197071831	G	A	ASPM	c.6550C>T	NM_018136.4	NP_060606.3:p.(Arg2184Trp)	NC_000001.10:g.197071831G>A	(Likely) benign	1 lab	2a673c5847
17:29653268 NF1 AAAGT>A	17	29653268	29653276	AAAGT	A	NF1	c.5268+3_5268+6del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29653273_29653276del	(Likely) pathogenic	1 lab	2a685cd094
X:46940595 RGN G>C	X	46940595	46940595	G	C	RGN	c.52G>C	NM_152869.4	NP_690608.1:p.(Glu18Gln)	NC_000023.10:g.46940595G>C	VUS	1 lab	2a6b1f984c
2:179446504 TTN T>A	2	179446504	179446504	T	A	TTN	c.66491A>T	NM_001267550.1	NP_001254479.1:p.(Lys22164Ile)	NC_000002.11:g.179446504T>A	VUS	1 lab	2a6f811fcb
22:29737521 AP1B1 C>T	22	29737521	29737521	C	T	AP1B1	c.1765G>A	NM_001127.3	NP_001118.3:p.(Val589Met)	NC_000022.10:g.29737521C>T	(Likely) benign	1 lab	2a71649777
6:3225468 TUBB2B C>T	6	3225468	3225468	C	T	TUBB2B	c.855G>A	NM_178012.4	NP_821080.1:p.(Thr285=)	NC_000006.11:g.3225468C>T	(Likely) benign	1 lab	2a72171b64
17:76491161 DNAH17 G>A	17	76491161	76491161	G	A	DNAH17	c.5922C>T	NM_173628.3	NP_775899.3:p.(Val1974=)	NC_000017.10:g.76491161G>A	(Likely) benign	1 lab	2a723fe0ed
4:126411387 FAT4 C>G	4	126411387	126411387	C	G	FAT4	c.13416C>G	NM_001291303.1	NP_001278232.1:p.(Gly4472=)	NC_000004.11:g.126411387C>G	(Likely) benign	1 lab	2a73458a0b
8:1806227 ARHGEF10 C>T	8	1806227	1806227	C	T	ARHGEF10	c.211C>T	NM_001308153.1	NP_001295082.1:p.(Pro71Ser)	NC_000008.10:g.1806227C>T	(Likely) benign	1 lab	2a785cd1d2
X:153420200 OPN1LW C>G	X	153420200	153420200	C	G	OPN1LW	c.730C>G	NM_020061.5	NP_064445.2:p.(Leu244Val)	NC_000023.10:g.153420200C>G	VUS	1 lab	2a79ca49ad
17:5461694 NLRP1 C>T	17	5461694	5461694	C	T	NLRP1	c.2322G>A	NM_033004.4	NP_127497.1:p.(Gln774=)	NC_000017.10:g.5461694C>T	(Likely) benign	1 lab	2aed00b3c9
X:41333661 NYX T>A	X	41333661	41333661	T	A	NYX	c.955T>A	NM_022567.2	NP_072089.1:p.(Trp319Arg)	NC_000023.10:g.41333661T>A	VUS	1 lab	2a7e58e23f
6:51619598 PKHD1 G>C	6	51619598	51619598	G	C	PKHD1	c.8781C>G	NM_138694.3	NP_619639.3:p.(Leu2927=)	NC_000006.11:g.51619598G>C	(Likely) benign	1 lab	2a7e74b3e7
17:71204547 COG1 C>G	17	71204547	71204547	C	G	COG1	c.2900C>G	NM_018714.2	NP_061184.1:p.(Pro967Arg)	NC_000017.10:g.71204547C>G	(Likely) benign	1 lab	2a805b6b36
1:222717071 HHIPL2 A>C	1	222717071	222717071	A	C	HHIPL2	c.782T>G	NM_024746.4	NP_079022.2:p.(Ile261Ser)	NC_000001.10:g.222717071A>C	(Likely) benign	1 lab	2a80b63514
10:99129321 RRP12 G>A	10	99129321	99129321	G	A	RRP12	c.2816C>T	NM_015179.3	NP_055994.2:p.(Thr939Ile)	NC_000010.10:g.99129321G>A	(Likely) benign	1 lab	2a810d88a9
3:111785247 TMPRSS7 C>T	3	111785247	111785247	C	T	TMPRSS7	c.1186C>T	NM_001042575.2	NP_001036040.2:p.(Gln396Ter)	NC_000003.11:g.111785247C>T	VUS	1 lab	2a81112e94
10:78771727 KCNMA1 C>T	10	78771727	78771727	C	T	KCNMA1	c.2102G>A	NM_001322830.1	NP_001309759.1:p.(Arg701Gln)	NC_000010.10:g.78771727C>T	VUS	1 lab	2a81d1637d
19:3908385 ATCAY G>A	19	3908385	3908385	G	A	ATCAY	c.647+17G>A	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3908385G>A	(Likely) benign	1 lab	2a81eda3d2
10:102584668 PAX2 T>A	10	102584668	102584668	T	A	PAX2	c.1031T>A	NM_003988.4	NP_003979.2:p.(Val344Asp)	NC_000010.10:g.102584668T>A	(Likely) benign	1 lab	2a8339a64a
X:149671615 MAMLD1 G>A	X	149671615	149671615	G	A	MAMLD1	c.2112G>A	NM_005491.4	NP_005482.2:p.(Pro704=)	NC_000023.10:g.149671615G>A	(Likely) benign	1 lab	2a8473454b
X:2861167 ARSL G>T	X	2861167	2861167	G	T	ARSL	c.1140C>A	NM_001282628.1	NP_001269557.1:p.(Gly380=)	NC_000023.10:g.2861167G>T	(Likely) benign	1 lab	2a8582bc4b
10:69934389 MYPN G>T	10	69934389	69934389	G	T	MYPN	c.2540G>T	NM_032578.3	NP_115967.2:p.(Gly847Val)	NC_000010.10:g.69934389G>T	VUS	1 lab	2a86f69a65
4:8873209 HMX1 G>C	4	8873209	8873209	G	C	HMX1	c.132C>G	NM_018942.2	NP_061815.2:p.(Asp44Glu)	NC_000004.11:g.8873209G>C	VUS	1 lab	2a87619299
8:7191465 USP17L1 C>A	8	7191465	7191465	C	A	USP17L1	c.1557C>A	NM_001256873.1	NP_001243802.1:p.(Asn519Lys)	NC_000008.10:g.7191465C>A	VUS	1 lab	2a8897ec5a
X:129147220 BCORL1 G>A	X	129147220	129147220	G	A	BCORL1	c.472G>A	NM_001184772.2	NP_001171701.1:p.(Gly158Arg)	NC_000023.10:g.129147220G>A	(Likely) benign	1 lab	2a88d3e801
4:6611772 MAN2B2 G>C	4	6611772	6611772	G	C	MAN2B2	c.2254G>C	NM_015274.3	NP_056089.1:p.(Ala752Pro)	NC_000004.11:g.6611772G>C	VUS	1 lab	e7f6da27e7
10:100186998 HPS1 C>T	10	100186998	100186998	C	T	HPS1	c.961G>A	NM_001322477.1	NP_001309406.1:p.(Gly321Ser)	NC_000010.10:g.100186998C>T	(Likely) benign	1 lab	2a8b72182f
5:140058669 HARS1 A>ATGT	5	140058669	140058674	A	ATGT	HARS1	c.437_439dup	NM_001258041.2	NP_001244970.1:p.(Asn146dup)	NC_000005.9:g.140058672_140058674dup	VUS	1 lab	2a8c331c26
17:73518396 TSEN54 G>A	17	73518396	73518396	G	A	TSEN54	c.1234G>A	NM_207346.2	NP_997229.2:p.(Gly412Ser)	NC_000017.10:g.73518396G>A	(Likely) benign	1 lab	2a8c76a2d8
12:133263886 POLE C>T	12	133263886	133263886	C	T	POLE	c.16G>A	NM_006231.3	NP_006222.2:p.(Gly6Ser)	NC_000012.11:g.133263886C>T	(Likely) benign	1 lab	2a8fa5ed5f
11:17656699 OTOG G>C	11	17656699	17656699	G	C	OTOG	c.7694G>C	NM_001277269.1	NP_001264198.1:p.(Arg2565Pro)	NC_000011.9:g.17656699G>C	VUS	1 lab	2a900d0209
7:91864216 KRIT1 GATTT>G	7	91864216	91864223	GATTT	G	KRIT1	c.747_750del	NM_194454.3	NP_919436.1:p.(Asn250HisfsTer5)	NC_000007.13:g.91864220_91864223del	(Likely) pathogenic	1 lab	2a9019e77a
12:88534986 CEP290 G>A	12	88534986	88534986	G	A	CEP290	c.99C>T	NM_025114.3	NP_079390.3:p.(Ser33=)	NC_000012.11:g.88534986G>A	(Likely) benign	1 lab	2a906fdbe2
2:210801592 UNC80 C>T	2	210801592	210801592	C	T	UNC80	c.6100C>T	NM_032504.1	NP_115893.1:p.(Pro2034Ser)	NC_000002.11:g.210801592C>T	(Likely) benign	1 lab	2a916768a7
11:124745470 ROBO3 C>T	11	124745470	124745470	C	T	ROBO3	c.2310C>T	NM_022370.3	NP_071765.2:p.(Gly770=)	NC_000011.9:g.124745470C>T	(Likely) benign	1 lab	2a9199e93d
4:187628721 FAT1 T>C	4	187628721	187628721	T	C	FAT1	c.2261A>G	NM_005245.3	NP_005236.2:p.(Tyr754Cys)	NC_000004.11:g.187628721T>C	VUS	1 lab	2a92142235
13:86368291 SLITRK6 C>G	13	86368291	86368291	C	G	SLITRK6	c.2353G>C	NM_032229.3	NP_115605.2:p.(Asp785His)	NC_000013.10:g.86368291C>G	VUS	1 lab	2a934afffc
3:38768342 SCN10A C>T	3	38768342	38768342	C	T	SCN10A	c.2842G>A	NM_006514.3	NP_006505.3:p.(Val948Met)	NC_000003.11:g.38768342C>T	(Likely) benign	1 lab	2a9378a1a5
17:29576057 NF1 G>T	17	29576057	29576057	G	T	NF1	c.4030G>T	NM_000267.3	NP_000258.1:p.(Glu1344Ter)	NC_000017.10:g.29576057G>T	(Likely) pathogenic	1 lab	2a94ae36d4
7:116380062 MET A>G	7	116380062	116380062	A	G	MET	c.1451A>G	NM_001127500.1	NP_001120972.1:p.(His484Arg)	NC_000007.13:g.116380062A>G	(Likely) benign	1 lab	2a954d79a7
18:77475529 CTDP1 G>T	18	77475529	77475529	G	T	CTDP1	c.2068+1G>T	NM_004715.4	NP_004706.3:p.?	NC_000018.9:g.77475529G>T	VUS	1 lab	2a99521a88
16:23359926 SCNN1B C>T	16	23359926	23359926	C	T	SCNN1B	c.6C>T	NM_000336.2	NP_000327.2:p.(His2=)	NC_000016.9:g.23359926C>T	(Likely) benign	1 lab	2a998d789c
5:131931450 RAD50 C>CT	5	131931450	131931451	C	CT	RAD50	c.2156dup	NM_005732.3	NP_005723.2:p.(Glu723GlyfsTer5)	NC_000005.9:g.131931451dup	(Likely) pathogenic	1 lab	2a999e9419
14:76905712 ESRRB A>G	14	76905712	76905712	A	G	ESRRB	c.16A>G	NM_004452.3	NP_004443.3:p.(Arg6Gly)	NC_000014.8:g.76905712A>G	(Likely) benign	1 lab	2a9c357602
1:114442728 AP4B1 C>T	1	114442728	114442728	C	T	AP4B1	c.912G>A	NM_006594.4	NP_006585.2:p.(Leu304=)	NC_000001.10:g.114442728C>T	(Likely) benign	1 lab	2a9e8ef5de
11:62297535 AHNAK A>G	11	62297535	62297535	A	G	AHNAK	c.4354T>C	NM_001620.3	NP_001611.1:p.(Ser1452Pro)	NC_000011.9:g.62297535A>G	VUS	1 lab	e7f904ccb7
13:52511673 ATP7B C>A	13	52511673	52511673	C	A	ATP7B	c.3842G>T	NM_000053.4	NP_000044.2:p.(Gly1281Val)	NC_000013.10:g.52511673C>A	(Likely) pathogenic	1 lab	e7fcc83aa8
19:33699874 SLC7A10 C>T	19	33699874	33699874	C	T	SLC7A10	c.1495G>A	NM_019849.3	NP_062823.1:p.(Ala499Thr)	NC_000019.9:g.33699874C>T	(Likely) benign	1 lab	2aa25d28ae
8:105393467 DPYS CTTTT>C	8	105393467	105393471	CTTTT	C	DPYS	c.1515_1518del	NM_001385.3	NP_001376.1:p.(Glu507MetfsTer57)	NC_000008.10:g.105393468_105393471del	VUS	1 lab	2aa4cfb5e7
3:121713043 ILDR1 G>A	3	121713043	121713043	G	A	ILDR1	c.764C>T	NM_001199799.1	NP_001186728.1:p.(Pro255Leu)	NC_000003.11:g.121713043G>A	(Likely) benign	1 lab	2aa56a5164
17:41267746 BRCA1 C>T	17	41267746	41267746	C	T	BRCA1	c.131G>A	NM_007294.4	NP_009225.1:p.(Cys44Tyr)	NC_000017.10:g.41267746C>T	(Likely) pathogenic	1 lab	e7fcf1bec0
9:14146714 NFIB C>T	9	14146714	14146714	C	T	NFIB	c.899G>A	NM_001190737.2	NP_001177666.1:p.(Ser300Asn)	NC_000009.11:g.14146714C>T	(Likely) benign	1 lab	e7fe9abcfd
5:140062688 HARS1 T>C	5	140062688	140062688	T	C	HARS1	c.297A>G	NM_001258041.2	NP_001244970.1:p.(Leu99=)	NC_000005.9:g.140062688T>C	(Likely) benign	1 lab	2aa7cba54e
19:36545975 WDR62 G>C	19	36545975	36545975	G	C	WDR62	c.102G>C	NM_001083961.1	NP_001077430.1:p.(Pro34=)	NC_000019.9:g.36545975G>C	(Likely) benign	1 lab	2aa8b3567b
1:29447852 TMEM200B C>G	1	29447852	29447852	C	G	TMEM200B	c.489G>C	NM_001171868.1	NP_001165339.1:p.(Pro163=)	NC_000001.10:g.29447852C>G	(Likely) benign	1 lab	2aa951497a
15:42137121 PLA2G4B C>G	15	42137121	42137121	C	G	PLA2G4B	c.1092C>G	NM_001114633.1	NP_001108105.1:p.(Thr364=)	NC_000015.9:g.42137121C>G	(Likely) benign	1 lab	2aa9e97835
19:54649507 CNOT3 C>T	19	54649507	54649507	C	T	CNOT3	c.657C>T	NM_014516.4	NP_055331.1:p.(Phe219=)	NC_000019.9:g.54649507C>T	(Likely) benign	1 lab	2aa9ecb27d
2:228172467 COL4A3 C>A	2	228172467	228172467	C	A	COL4A3	c.4294C>A	NM_000091.4	NP_000082.2:p.(Arg1432Ser)	NC_000002.11:g.228172467C>A	(Likely) benign	1 lab	2aab2f80f7
8:48872558 PRKDC G>A	8	48872558	48872558	G	A	PRKDC	c.129C>T	NM_006904.6	NP_008835.5:p.(Val43=)	NC_000008.10:g.48872558G>A	(Likely) benign	1 lab	2aab71b443
21:47565762 FTCD G>GC	21	47565762	47565767	G	GC	FTCD	c.1067dup	NM_001320412.1	NP_001307341.1:p.(Gly357ArgfsTer75)	NC_000021.8:g.47565767dup	VUS	1 lab	2aae622e3c
9:14770717 FREM1 T>C	9	14770717	14770717	T	C	FREM1	c.4945A>G	NM_144966.5	NP_659403.4:p.(Ile1649Val)	NC_000009.11:g.14770717T>C	VUS	1 lab	2aaf80514b
18:11689607 GNAL A>G	18	11689607	11689607	A	G	GNAL	c.45A>G	NM_182978.3	NP_892023.1:p.(Pro15=)	NC_000018.9:g.11689607A>G	(Likely) benign	1 lab	2aaf92f031
1:114449701 DCLRE1B C>T	1	114449701	114449701	C	T	DCLRE1B	c.273C>T	NM_022836.4	NP_073747.1:p.(Thr91=)	NC_000001.10:g.114449701C>T	(Likely) benign	1 lab	2aafc9eebb
6:33756322 LEMD2 C>T	6	33756322	33756322	C	T	LEMD2	c.572G>A	NM_181336.3	NP_851853.1:p.(Gly191Asp)	NC_000006.11:g.33756322C>T	(Likely) benign	1 lab	2ab1a6d25b
7:91864746 KRIT1 AC>A	7	91864746	91864747	AC	A	KRIT1	c.699del	NM_194454.3	NP_919436.1:p.(Leu233PhefsTer12)	NC_000007.13:g.91864747del	(Likely) pathogenic	1 lab	2ab3f44600
2:209191149 PIKFYVE C>A	2	209191149	209191149	C	A	PIKFYVE	c.3614C>A	NM_015040.3	NP_055855.2:p.(Thr1205Lys)	NC_000002.11:g.209191149C>A	VUS	1 lab	2ab80bf74d
6:7542185 DSP ACT>A	6	7542185	7542189	ACT	A	DSP	c.40_41del	NM_004415.4	NP_004406.2:p.(Leu14GlyfsTer78)	NC_000006.11:g.7542188_7542189del	(Likely) pathogenic	1 lab	2ab93e5426
2:74076532 STAMBP G>A	2	74076532	74076532	G	A	STAMBP	c.785G>A	NM_006463.5	NP_006454.1:p.(Arg262Gln)	NC_000002.11:g.74076532G>A	(Likely) benign	1 lab	2ab9b490fa
9:127265420 NR5A1 TGC>T	9	127265420	127265423	TGC	T	NR5A1	c.180_181del	NM_004959.5	NP_004950.2:p.(Gln61AlafsTer25)	NC_000009.11:g.127265422_127265423del	(Likely) pathogenic	1 lab	2abaeb19d8
X:153128157 L1CAM C>T	X	153128157	153128157	C	T	L1CAM	c.3735G>A	NM_001278116.1	NP_001265045.1:p.(Gly1245=)	NC_000023.10:g.153128157C>T	(Likely) benign	1 lab	2abbe59ea8
10:73122284 SLC29A3 G>A	10	73122284	73122284	G	A	SLC29A3	c.1113G>A	NM_001363518.1	NP_001350447.1:p.(Thr371=)	NC_000010.10:g.73122284G>A	(Likely) benign	1 lab	2abcabae66
1:97564188 DPYD T>G	1	97564188	97564188	T	G	DPYD	c.2623A>C	NM_000110.3	NP_000101.2:p.(Lys875Gln)	NC_000001.10:g.97564188T>G	(Likely) benign	1 lab	2acdd78fdc
2:198570849 MARS2 C>T	2	198570849	198570849	C	T	MARS2	c.720C>T	NM_138395.3	NP_612404.1:p.(His240=)	NC_000002.11:g.198570849C>T	(Likely) benign	1 lab	2abdc4db95
21:47663626 MCM3AP G>A	21	47663626	47663626	G	A	MCM3AP	c.5049C>T	NM_003906.4	NP_003897.2:p.(Leu1683=)	NC_000021.8:g.47663626G>A	(Likely) benign	1 lab	2ac32bcf31
11:119169139 CBL G>A	11	119169139	119169139	G	A	CBL	c.2323G>A	NM_005188.3	NP_005179.2:p.(Asp775Asn)	NC_000011.9:g.119169139G>A	VUS	1 lab	2ac582d144
17:29553629 NF1 G>C	17	29553629	29553629	G	C	NF1	c.2178G>C	NM_000267.3	NP_000258.1:p.(Val726=)	NC_000017.10:g.29553629G>C	(Likely) benign	1 lab	2ac66a7ebc
X:10180548 CLCN4 G>A	X	10180548	10180548	G	A	CLCN4	c.1431G>A	NM_001830.3	NP_001821.2:p.(Ala477=)	NC_000023.10:g.10180548G>A	(Likely) benign	1 lab	2ac6927c45
17:80405458 CYBC1 CCG>C	17	80405458	80405461	CCG	C	CYBC1	c.123_124del	NM_001033046.4	NP_001028218.1:p.(Ser41ArgfsTer3)	NC_000017.10:g.80405460_80405461del	(Likely) pathogenic	1 lab	2ac6be2adf
1:25669518 TMEM50A C>T	1	25669518	25669518	C	T	TMEM50A	c.160C>T	NM_014313.4	NP_055128.1:p.(His54Tyr)	NC_000001.10:g.25669518C>T	VUS	1 lab	2ac6d2d5d9
16:81388292 GAN G>T	16	81388292	81388292	G	T	GAN	c.565G>T	NM_022041.4	NP_071324.1:p.(Val189Phe)	NC_000016.9:g.81388292G>T	VUS	1 lab	2bddad9643
14:91773537 CCDC88C G>C	14	91773537	91773537	G	C	CCDC88C	c.3040C>G	NM_001080414.3	NP_001073883.2:p.(Gln1014Glu)	NC_000014.8:g.91773537G>C	(Likely) benign	1 lab	2ac84acb35
X:153176601 ARHGAP4 G>A	X	153176601	153176601	G	A	ARHGAP4	c.1705C>T	NM_001164741.1	NP_001158213.1:p.(Arg569Cys)	NC_000023.10:g.153176601G>A	VUS	1 lab	2ac8c0c253
19:36211134 KMT2B C>T	19	36211134	36211134	C	T	KMT2B	c.885C>T	NM_014727.2	NP_055542.1:p.(Arg295=)	NC_000019.9:g.36211134C>T	(Likely) benign	1 lab	2acd1d01c6
X:13757121 OFD1 G>A	X	13757121	13757121	G	A	OFD1	c.382G>A	NM_003611.2	NP_003602.1:p.(Val128Ile)	NC_000023.10:g.13757121G>A	(Likely) benign	1 lab	2ace7bab4a
9:133901819 LAMC3 CC>AG	9	133901819	133901820	CC	AG	LAMC3	c.521_522delinsAG	NM_006059.3	NP_006050.3:p.(Pro174Gln)	NC_000009.11:g.133901819_133901820delinsAG	(Likely) benign	1 lab	2ad0499fb1
9:34657436 IL11RA G>C	9	34657436	34657436	G	C	IL11RA	c.498G>C	NM_001142784.2	NP_001136256.1:p.(Gly166=)	NC_000009.11:g.34657436G>C	(Likely) benign	1 lab	2ad132ae90
19:7626086 PNPLA6 G>A	19	7626086	7626086	G	A	PNPLA6	c.3944-8G>A	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7626086G>A	(Likely) benign	1 lab	2ad51c2c0e
11:118377048 KMT2A C>A	11	118377048	118377048	C	A	KMT2A	c.10441C>A	NM_001197104.1	NP_001184033.1:p.(Pro3481Thr)	NC_000011.9:g.118377048C>A	(Likely) benign	1 lab	2ad8462195
X:129201205 ELF4 G>A	X	129201205	129201205	G	A	ELF4	c.1483C>T	NM_001421.3	NP_001412.1:p.(Arg495Cys)	NC_000023.10:g.129201205G>A	(Likely) benign	1 lab	2ad847dbe0
19:50412483 NUP62 C>T	19	50412483	50412483	C	T	NUP62	c.582G>A	NM_016553.4	NP_057637.2:p.(Thr194=)	NC_000019.9:g.50412483C>T	(Likely) benign	1 lab	2ad9d3426c
18:19359501 MIB1 G>C	18	19359501	19359501	G	C	MIB1	c.763G>C	NM_020774.3	NP_065825.1:p.(Asp255His)	NC_000018.9:g.19359501G>C	VUS	1 lab	2adb7cb3f2
9:141015251 CACNA1B G>A	9	141015251	141015251	G	A	CACNA1B	c.6407G>A	NM_000718.4	NP_000709.1:p.(Arg2136His)	NC_000009.11:g.141015251G>A	(Likely) benign	1 lab	e7ff33604f
X:152721736 HAUS7 G>A	X	152721736	152721736	G	A	HAUS7	c.722C>T	NM_017518.7	NP_059988.3:p.(Ala241Val)	NC_000023.10:g.152721736G>A	(Likely) benign	1 lab	2adddb41f2
16:27709688 KATNIP G>A	16	27709688	27709688	G	A	KATNIP	c.980G>A	NM_015202.3	NP_056017.3:p.(Arg327His)	NC_000016.9:g.27709688G>A	VUS	1 lab	2ade5d80c5
14:75469808 EIF2B2 C>T	14	75469808	75469808	C	T	EIF2B2	c.115C>T	NM_014239.3	NP_055054.1:p.(Leu39=)	NC_000014.8:g.75469808C>T	(Likely) benign	1 lab	2ae04fe6bf
4:103180612 SLC39A8 C>T	4	103180612	103180612	C	T	SLC39A8	c.1326G>A	NM_001135147.1	NP_001128619.1:p.(Thr442=)	NC_000004.11:g.103180612C>T	VUS	1 lab	2ae09901a2
X:103043435 PLP1 C>T	X	103043435	103043435	C	T	PLP1	c.692C>T	NM_001128834.2	NP_001122306.1:p.(Ala231Val)	NC_000023.10:g.103043435C>T	(Likely) benign	1 lab	2ae2c5df84
8:145004142 PLEC G>A	8	145004142	145004142	G	A	PLEC	c.3112C>T	NM_201380.3	NP_958782.1:p.(Arg1038Cys)	NC_000008.10:g.145004142G>A	VUS	1 lab	2ae589c965
12:13724843 GRIN2B C>G	12	13724843	13724843	C	G	GRIN2B	c.2066G>C	NM_000834.5	NP_000825.2:p.(Gly689Ala)	NC_000012.11:g.13724843C>G	VUS	1 lab	e803f92533
13:26434998 ATP8A2 A>G	13	26434998	26434998	A	G	ATP8A2	c.3075A>G	NM_016529.5	NP_057613.4:p.(Lys1025=)	NC_000013.10:g.26434998A>G	(Likely) benign	1 lab	2ae80946ad
22:25597435 CRYBB3 C>T	22	25597435	25597435	C	T	CRYBB3	c.72C>T	NM_004076.4	NP_004067.1:p.(Tyr24=)	NC_000022.10:g.25597435C>T	(Likely) benign	1 lab	2ae845d2e7
X:119211098 RHOXF2B CT>C	X	119211098	119211103	CT	C	RHOXF2B	c.234del	NM_001099685.3	NP_001093155.1:p.(Asp79MetfsTer93)	NC_000023.10:g.119211103del	VUS	1 lab	2ae990eea4
11:6662192 DCHS1 C>T	11	6662192	6662192	C	T	DCHS1				NC_000011.9:g.6662192C>T	VUS	1 lab	2af9984bc0
11:118366596 KMT2A C>A	11	118366596	118366596	C	A	KMT2A	c.5545C>A	NM_001197104.1	NP_001184033.1:p.(Pro1849Thr)	NC_000011.9:g.118366596C>A	VUS	1 lab	2aeb76ef3c
X:108641816 GUCY2F C>T	X	108641816	108641816	C	T	GUCY2F	c.2237G>A	NM_001522.2	NP_001513.2:p.(Arg746Gln)	NC_000023.10:g.108641816C>T	VUS	1 lab	2aee51b9f5
9:32987814 APTX C>A	9	32987814	32987814	C	A	APTX	c.211G>T	NM_175073.2	NP_778243.1:p.(Val71Phe)	NC_000009.11:g.32987814C>A	(Likely) benign	1 lab	2aefaa7239
17:29527462 NF1 GA>T	17	29527462	29527463	GA	T	NF1	c.911_912delinsT	NM_000267.3	NP_000258.1:p.(Arg304LeufsTer13)	NC_000017.10:g.29527462_29527463delinsT	(Likely) pathogenic	1 lab	2aefca5466
11:119216228 MFRP T>G	11	119216228	119216228	T	G	MFRP	c.543A>C	NM_031433.3	NP_113621.1:p.(Ala181=)	NC_000011.9:g.119216228T>G	(Likely) benign	1 lab	2af0604872
16:30582908 ZNF688 C>T	16	30582908	30582908	C	T	ZNF688	c.43G>A	NM_145271.3	NP_660314.1:p.(Glu15Lys)	NC_000016.9:g.30582908C>T	(Likely) benign	1 lab	2af6001b10
9:117170303 WHRN A>T	9	117170303	117170303	A	T	WHRN	c.1627-5T>A	NM_015404.3	NP_056219.3:p.?	NC_000009.11:g.117170303A>T	(Likely) benign	1 lab	2af66ac749
2:73678197 ALMS1 G>A	2	73678197	73678197	G	A	ALMS1	c.4546G>A	NM_015120.4	NP_055935.4:p.(Ala1516Thr)	NC_000002.11:g.73678197G>A	(Likely) benign	1 lab	2af7af353e
15:30854433 GOLGA8Q C>G	15	30854433	30854433	C	G	GOLGA8Q	c.1713C>G	NM_001355476.1	NP_001342405.1:p.(Asp571Glu)	NC_000015.9:g.30854433C>G	VUS	1 lab	2af84d644b
2:47612345 EPCAM C>G	2	47612345	47612345	C	G	EPCAM	c.899C>G	NM_002354.2	NP_002345.2:p.(Ala300Gly)	NC_000002.11:g.47612345C>G	VUS	1 lab	2af9ae56d0
3:147131211 ZIC1 C>T	3	147131211	147131211	C	T	ZIC1	c.1217C>T	NM_003412.3	NP_003403.2:p.(Pro406Leu)	NC_000003.11:g.147131211C>T	VUS	1 lab	2afb9836fd
13:110866316 COL4A1 C>T	13	110866316	110866316	C	T	COL4A1	c.191G>A	NM_001845.5	NP_001836.3:p.(Gly64Glu)	NC_000013.10:g.110866316C>T	VUS	1 lab	2afd5d1db0
1:151315314 RFX5 C>T	1	151315314	151315314	C	T	RFX5	c.1199G>A	NM_000449.3	NP_000440.1:p.(Arg400Gln)	NC_000001.10:g.151315314C>T	(Likely) benign	1 lab	2afd7f5f78
16:87960560 CA5A A>T	16	87960560	87960560	A	T	CA5A	c.143-9T>A	NM_001739.2	NP_001730.1:p.?	NC_000016.9:g.87960560A>T	(Likely) benign	1 lab	2afe2050f5
2:47643490 MSH2 G>A	2	47643490	47643490	G	A	MSH2	c.998G>A	NM_000251.2	NP_000242.1:p.(Cys333Tyr)	NC_000002.11:g.47643490G>A	(Likely) pathogenic	1 lab	2aff0087e2
16:67663354 CTCF G>A	16	67663354	67663354	G	A	CTCF	c.1755G>A	NM_006565.3	NP_006556.1:p.(Gly585=)	NC_000016.9:g.67663354G>A	(Likely) benign	1 lab	2b01168327
1:110560584 AHCYL1 G>T	1	110560584	110560584	G	T	AHCYL1	c.928G>T	NM_001242673.1	NP_001229602.1:p.(Val310Leu)	NC_000001.10:g.110560584G>T	VUS	1 lab	2b0188f6d1
12:58120415 AGAP2 TGCTGGGCGTGGTGGCCGC>T	12	58120415	58120455	TGCTGGGCGTGGTGGCCGC	T	AGAP2	c.3481_3498del	NM_001122772.3	NP_001116244.1:p.(Ala1161_Ser1166del)	NC_000012.11:g.58120438_58120455del	VUS	1 lab	2b02731a32
18:8777849 MTCL1 A>C	18	8777849	8777849	A	C	MTCL1	c.376A>C	NM_015210.3	NP_056025.2:p.(Ser126Arg)	NC_000018.9:g.8777849A>C	(Likely) benign	1 lab	2b03d4838d
22:38369673 SOX10 G>A	22	38369673	38369673	G	A	SOX10	c.1230C>T	NM_006941.3	NP_008872.1:p.(Pro410=)	NC_000022.10:g.38369673G>A	(Likely) benign	1 lab	2b042e349d
2:51254680 NRXN1 G>A	2	51254680	51254680	G	A	NRXN1	c.732C>T	NM_001135659.2	NP_001129131.1:p.(Asp244=)	NC_000002.11:g.51254680G>A	(Likely) benign	1 lab	2b050536af
8:22272306 SLC39A14 A>G	8	22272306	22272306	A	G	SLC39A14	c.641A>G	NM_001351660.1	NP_001338589.1:p.(Asn214Ser)	NC_000008.10:g.22272306A>G	(Likely) benign	1 lab	2b0800bbb1
12:58024123 B4GALNT1 G>A	12	58024123	58024123	G	A	B4GALNT1	c.532-8C>T	NM_001478.4	NP_001469.1:p.?	NC_000012.11:g.58024123G>A	(Likely) benign	1 lab	2b0813684a
1:91405640 ZNF644 T>G	1	91405640	91405640	T	G	ZNF644	c.1271A>C	NM_201269.2	NP_958357.1:p.(His424Pro)	NC_000001.10:g.91405640T>G	VUS	1 lab	2b0919ba5e
20:57405576 GNAS-AS1 A>AC	20	57405576	57405577	A	AC	GNAS-AS1	n.820-11267dup	NR_002785.2		NC_000020.10:g.57405577dup	(Likely) benign	1 lab	e8040eca98
2:11932055 LPIN1 A>G	2	11932055	11932055	A	G	LPIN1	c.1876A>G	NM_001261428.2	NP_001248357.1:p.(Ile626Val)	NC_000002.11:g.11932055A>G	(Likely) benign	1 lab	2b0ad21a4b
X:112022283 AMOT G>A	X	112022283	112022283	G	A	AMOT	c.3099C>T	NM_001113490.1	NP_001106962.1:p.(Thr1033=)	NC_000023.10:g.112022283G>A	(Likely) benign	1 lab	2b0ccb6cc2
16:2126602 TSC2 G>A	16	2126602	2126602	G	A	TSC2	c.2837+16G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126602G>A	(Likely) benign	1 lab	2b0dcc3d46
16:2129325 TSC2 G>A	16	2129325	2129325	G	A	TSC2	c.3180G>A	NM_000548.3	NP_000539.2:p.(Trp1060Ter)	NC_000016.9:g.2129325G>A	(Likely) pathogenic	1 lab	2b0ef086b8
11:31823211 PAX6 G>A	11	31823211	31823211	G	A	PAX6	c.297C>T	NM_001310158.1	NP_001297087.1:p.(Ser99=)	NC_000011.9:g.31823211G>A	(Likely) benign	1 lab	2b0f805aa2
9:135158707 SETX C>A	9	135158707	135158707	C	A	SETX	c.6490G>T	NM_015046.7	NP_055861.3:p.(Glu2164Ter)	NC_000009.11:g.135158707C>A	(Likely) pathogenic	1 lab	e808b7c21c
X:9862768 SHROOM2 G>A	X	9862768	9862768	G	A	SHROOM2	c.820G>A	NM_001649.3	NP_001640.1:p.(Gly274Ser)	NC_000023.10:g.9862768G>A	(Likely) benign	1 lab	2b10b978bf
15:85327103 ZNF592 T>G	15	85327103	85327103	T	G	ZNF592	c.1197T>G	NM_014630.2	NP_055445.2:p.(Asp399Glu)	NC_000015.9:g.85327103T>G	VUS	1 lab	2b116cf755
4:79458330 FRAS1 C>A	4	79458330	79458330	C	A	FRAS1	c.11274C>A	NM_025074.7	NP_079350.5:p.(His3758Gln)	NC_000004.11:g.79458330C>A	VUS	1 lab	2b1490d7f2
7:103183261 RELN G>C	7	103183261	103183261	G	C	RELN	c.6588C>G	NM_005045.4	NP_005036.2:p.(Ile2196Met)	NC_000007.13:g.103183261G>C	VUS	1 lab	e80d11f613
X:22108574 PHEX G>A	X	22108574	22108574	G	A	PHEX	c.691G>A	NM_000444.5	NP_000435.3:p.(Val231Met)	NC_000023.10:g.22108574G>A	(Likely) benign	1 lab	2b1bc6131f
19:45867816 ERCC2 G>A	19	45867816	45867816	G	A	ERCC2	c.595-11C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45867816G>A	(Likely) benign	1 lab	2b1e30671d
17:18047819 MYO15A C>A	17	18047819	18047819	C	A	MYO15A	c.6186C>A	NM_016239.3	NP_057323.3:p.(Ala2062=)	NC_000017.10:g.18047819C>A	(Likely) benign	1 lab	2b1edeaea5
17:38975173 KRT10 G>C	17	38975173	38975173	G	C	KRT10	c.1614C>G	NM_000421.3	NP_000412.3:p.(Gly538=)	NC_000017.10:g.38975173G>C	(Likely) benign	1 lab	2b2173d2a4
X:601612 SHOX A>C	X	601612	601612	A	C	SHOX	c.543A>C	NM_000451.3	NP_000442.1:p.(Lys181Asn)	NC_000023.10:g.601612A>C	(Likely) benign	1 lab	2b21796fcc
11:47363811 MYBPC3 G>A	11	47363811	47363811	G	A	MYBPC3	c.1625-104C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363811G>A	(Likely) benign	1 lab	2bf6635308
17:10533255 MYH3 C>T	17	10533255	10533255	C	T	MYH3	c.5563-1G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10533255C>T	(Likely) pathogenic	1 lab	e80de36d00
13:103394544 LRTM3 G>A	13	103394544	103394544	G	A	LRTM3	c.8503C>T	NM_001146197.2	NP_001139669.1:p.(Gln2835Ter)	NC_000013.10:g.103394544G>A	VUS	1 lab	2b23ea545e
1:240371277 FMN2 T>G	1	240371277	240371277	T	G	FMN2	c.3165T>G	NM_020066.5	NP_064450.3:p.(Pro1055=)	NC_000001.10:g.240371277T>G	(Likely) benign	1 lab	2b24bb7206
2:220431630 OBSL1 C>T	2	220431630	220431630	C	T	OBSL1	c.2056G>A	NM_015311.2	NP_056126.1:p.(Val686Ile)	NC_000002.11:g.220431630C>T	(Likely) benign	1 lab	2b26b21149
8:42176188 IKBKB C>T	8	42176188	42176188	C	T	IKBKB	c.1359C>T	NM_001556.3	NP_001547.1:p.(Ala453=)	NC_000008.10:g.42176188C>T	(Likely) benign	1 lab	2b293fa54d
7:4285364 SDK1 A>G	7	4285364	4285364	A	G	SDK1	c.6308A>G	NM_152744.3	NP_689957.3:p.(Asn2103Ser)	NC_000007.13:g.4285364A>G	(Likely) benign	1 lab	2b299accaa
3:36873878 TRANK1 A>T	3	36873878	36873878	A	T	TRANK1	c.7196T>A	NM_001329998.1	NP_001316927.1:p.(Met2399Lys)	NC_000003.11:g.36873878A>T	(Likely) benign	1 lab	2b2abaa8c9
8:133894823 TG C>T	8	133894823	133894823	C	T	TG	c.855C>T	NM_003235.4	NP_003226.4:p.(Leu285=)	NC_000008.10:g.133894823C>T	(Likely) benign	1 lab	2b2bf278f7
14:70459174 SMOC1 G>A	14	70459174	70459174	G	A	SMOC1	c.567G>A	NM_001034852.2	NP_001030024.1:p.(Pro189=)	NC_000014.8:g.70459174G>A	(Likely) benign	1 lab	2b2ccb9d10
13:110831303 COL4A1 GA>G	13	110831303	110831304	GA	G	COL4A1	c.2424del	NM_001845.6	NP_001836.3:p.(Pro810LeufsTer15)	NC_000013.10:g.110831304del	(Likely) pathogenic	1 lab	2b2d378a84
8:15977955 MSR1 G>A	8	15977955	15977955	G	A	MSR1	c.1194C>T	NM_138715.2	NP_619729.1:p.(Ala398=)	NC_000008.10:g.15977955G>A	(Likely) benign	1 lab	2b2ddb59fe
11:102587154 MMP8 GAAAA>G	11	102587154	102587178	GAAAA	G	MMP8	c.785-8_785-5del	NM_002424.3	NP_002415.1:p.?	NC_000011.9:g.102587175_102587178del	(Likely) benign	1 lab	2b2f7d6d72
3:53217492 PRKCD G>A	3	53217492	53217492	G	A	PRKCD	c.682G>A	NM_001354680.1	NP_001341609.1:p.(Asp228Asn)	NC_000003.11:g.53217492G>A	VUS	1 lab	2b312772a4
12:94772809 CEP83 G>C	12	94772809	94772809	G	C	CEP83	c.559C>G	NM_016122.2	NP_057206.2:p.(Leu187Val)	NC_000012.11:g.94772809G>C	VUS	1 lab	2b320928a5
3:49162298 LAMB2 C>T	3	49162298	49162298	C	T	LAMB2	c.2945G>A	NM_002292.3	NP_002283.3:p.(Arg982Gln)	NC_000003.11:g.49162298C>T	(Likely) benign	1 lab	2b334c6422
16:68712185 CDH3 G>A	16	68712185	68712185	G	A	CDH3	c.390+5G>A	NM_001317195.1	NP_001304124.1:p.?	NC_000016.9:g.68712185G>A	VUS	1 lab	2b35acd3d9
8:72211460 EYA1 C>T	8	72211460	72211460	C	T	EYA1	c.648G>A	NM_000503.5	NP_000494.2:p.(Pro216=)	NC_000008.10:g.72211460C>T	(Likely) benign	1 lab	2b373695b0
10:68535210 CTNNA3 G>A	10	68535210	68535210	G	A	CTNNA3	c.1120C>T	NM_013266.3	NP_037398.2:p.(Arg374Cys)	NC_000010.10:g.68535210G>A	VUS	1 lab	2b388b7ac8
7:103194153 RELN C>T	7	103194153	103194153	C	T	RELN	c.5923G>A	NM_005045.3	NP_005036.2:p.(Gly1975Ser)	NC_000007.13:g.103194153C>T	(Likely) benign	1 lab	2b3b06753b
19:43772264 PSG9 G>C	19	43772264	43772264	G	C	PSG9	c.102C>G	NM_002784.5	NP_002775.3:p.(Ala34=)	NC_000019.9:g.43772264G>C	(Likely) benign	1 lab	2b3c33a46d
X:135431457 ADGRG4 A>G	X	135431457	135431457	A	G	ADGRG4	c.5592A>G	NM_153834.3	NP_722576.3:p.(Pro1864=)	NC_000023.10:g.135431457A>G	(Likely) benign	1 lab	2b3cd8bd25
4:144468043 SMARCA5 G>T	4	144468043	144468043	G	T	SMARCA5	c.2635G>T	NM_003601.4	NP_003592.3:p.(Glu879Ter)	NC_000004.11:g.144468043G>T	VUS	1 lab	e8146f54f4
21:47685300 MCM3AP G>A	21	47685300	47685300	G	A	MCM3AP	c.3169C>T	NM_003906.4	NP_003897.2:p.(Leu1057Phe)	NC_000021.8:g.47685300G>A	(Likely) benign	1 lab	2b3fb81990
20:35545372 SAMHD1 G>T	20	35545372	35545372	G	T	SAMHD1	c.933C>A	NM_015474.4	NP_056289.2:p.(Asp311Glu)	NC_000020.10:g.35545372G>T	VUS	1 lab	e814df6d54
1:226259113 H3-3A C>G	1	226259113	226259113	C	G	H3-3A	c.344C>G	NM_002107.7	NP_002098.1:p.(Ala115Gly)	NC_000001.10:g.226259113C>G	(Likely) benign	1 lab	e8184cb465
10:21186062 NEBL CTTCATT>C	10	21186062	21186071	CTTCATT	C	NEBL	c.67_72del	NM_006393.3	NP_006384.1:p.(Asn23_Glu24del)	NC_000010.10:g.21186066_21186071del	VUS	1 lab	2b4761feb3
17:1003904 ABR G>T	17	1003904	1003904	G	T	ABR	c.1095C>A	NM_001322841.1	NP_001309770.1:p.(Tyr365Ter)	NC_000017.10:g.1003904G>T	VUS	1 lab	2b48644f9d
6:118869503 PLN G>A	6	118869503	118869503	G	A	PLN	c.-150G>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118869503G>A	(Likely) benign	1 lab	2b48786141
9:99017206 HSD17B3 T>G	9	99017206	99017206	T	G	HSD17B3	c.221A>C	NM_000197.2	NP_000188.1:p.(Asn74Thr)	NC_000009.11:g.99017206T>G	(Likely) pathogenic	1 lab	2b4918f128
9:135779140 TSC1 T>AC	9	135779140	135779140	T	AC	TSC1	c.2106delinsGT	NM_000368.4	NP_000359.1:p.(Leu703SerfsTer3)	NC_000009.11:g.135779140delinsAC	(Likely) pathogenic	1 lab	2b4a563841
14:91805672 CCDC88C G>A	14	91805672	91805672	G	A	CCDC88C	c.759C>T	NM_001080414.3	NP_001073883.2:p.(Ala253=)	NC_000014.8:g.91805672G>A	(Likely) benign	1 lab	2b4a7a915e
2:62081012 FAM161A A>C	2	62081012	62081012	A	C	FAM161A	c.165T>G	NM_001201543.2	NP_001188472.1:p.(Ala55=)	NC_000002.11:g.62081012A>C	(Likely) benign	1 lab	e81905c0f2
16:88909446 GALNS C>T	16	88909446	88909446	C	T	GALNS	c.130G>A	NM_001323544.1	NP_001310473.1:p.(Asp44Asn)	NC_000016.9:g.88909446C>T	(Likely) benign	1 lab	2b4d68337b
2:178097314 NFE2L2 A>G	2	178097314	178097314	A	G	NFE2L2	c.355-3T>C	NM_001145412.3	NP_001138884.1:p.?	NC_000002.11:g.178097314A>G	(Likely) benign	1 lab	2b4e3ff623
19:45682949 BLOC1S3 A>G	19	45682949	45682949	A	G	BLOC1S3	c.395A>G	NM_212550.4	NP_997715.1:p.(Tyr132Cys)	NC_000019.9:g.45682949A>G	VUS	1 lab	2b4ed6dbee
13:37393548 RFXAP G>T	13	37393548	37393548	G	T	RFXAP	c.54G>T	NM_000538.3	NP_000529.1:p.(Val18=)	NC_000013.10:g.37393548G>T	(Likely) benign	1 lab	2b516573c0
17:76424681 DNAH17 C>T	17	76424681	76424681	C	T	DNAH17	c.12513G>A	NM_173628.3	NP_775899.3:p.(Leu4171=)	NC_000017.10:g.76424681C>T	(Likely) benign	1 lab	2b517da4cc
8:145011343 PLEC C>T	8	145011343	145011343	C	T	PLEC	c.743G>A	NM_201380.3	NP_958782.1:p.(Arg248Gln)	NC_000008.10:g.145011343C>T	VUS	1 lab	2b52c89cec
1:17313681 ATP13A2 C>T	1	17313681	17313681	C	T	ATP13A2	c.2928G>A	NM_001141973.2	NP_001135445.1:p.(Thr976=)	NC_000001.10:g.17313681C>T	(Likely) benign	1 lab	2b55394cfb
5:178408827 GRM6 A>G	5	178408827	178408827	A	G	GRM6	c.2465T>C	NM_000843.4	NP_000834.2:p.(Val822Ala)	NC_000005.9:g.178408827A>G	VUS	1 lab	2b5597d1e4
2:233322818 ALPI C>T	2	233322818	233322818	C	T	ALPI	c.967C>T	NM_001631.5	NP_001622.2:p.(Arg323Cys)	NC_000002.11:g.233322818C>T	(Likely) benign	1 lab	2b56909a11
9:139405696 NOTCH1 G>A	9	139405696	139405696	G	A	NOTCH1	c.2495C>T	NM_017617.5	NP_060087.3:p.(Pro832Leu)	NC_000009.11:g.139405696G>A	(Likely) benign	1 lab	2b56ee49e6
1:186055432 HMCN1 A>C	1	186055432	186055432	A	C	HMCN1	c.8939A>C	NM_031935.2	NP_114141.2:p.(Asn2980Thr)	NC_000001.10:g.186055432A>C	VUS	1 lab	2b574e8e9a
14:81371234 CEP128 C>A	14	81371234	81371234	C	A	CEP128	c.403G>T	NM_152446.5	NP_689659.2:p.(Gly135Trp)	NC_000014.8:g.81371234C>A	VUS	1 lab	2b577f49be
2:179456112 TTN T>C	2	179456112	179456112	T	C	TTN	c.60340A>G	NM_001267550.1	NP_001254479.1:p.(Thr20114Ala)	NC_000002.11:g.179456112T>C	VUS	1 lab	2b58d7bbd4
16:9923372 GRIN2A C>T	16	9923372	9923372	C	T	GRIN2A	c.1915G>A	NM_001134407.3	NP_001127879.1:p.(Val639Ile)	NC_000016.9:g.9923372C>T	VUS	1 lab	2b58f131a7
20:10629708 JAG1 C>A	20	10629708	10629708	C	A	JAG1	c.1395+1G>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629708C>A	(Likely) pathogenic	1 lab	2b58f5c241
12:115112444 TBX3 C>A	12	115112444	115112444	C	A	TBX3	c.1296G>T	NM_016569.3	NP_057653.3:p.(Ser432=)	NC_000012.11:g.115112444C>A	(Likely) benign	1 lab	2b59c1092a
X:70823618 GCNA A>G	X	70823618	70823618	A	G	GCNA	c.491A>G	NM_052957.4	NP_443189.1:p.(Asp164Gly)	NC_000023.10:g.70823618A>G	(Likely) benign	1 lab	2b5a1272cc
1:75037362 ERICH3 G>A	1	75037362	75037362	G	A	ERICH3	c.4032C>T	NM_001002912.5	NP_001002912.4:p.(His1344=)	NC_000001.10:g.75037362G>A	(Likely) benign	1 lab	2b5a59e709
X:153223257 HCFC1 C>T	X	153223257	153223257	C	T	HCFC1	c.2109G>A	NM_005334.2	NP_005325.2:p.(Thr703=)	NC_000023.10:g.153223257C>T	(Likely) benign	1 lab	2b5b340bd9
18:34359413 FHOD3 C>T	18	34359413	34359413	C	T	FHOD3	c.4240C>T	NM_025135.5	NP_079411.2:p.(Arg1414Ter)	NC_000018.9:g.34359413C>T	VUS	1 lab	e81cb9d9e4
15:85401366 ALPK3 A>G	15	85401366	85401366	A	G	ALPK3	c.4003A>G	NM_020778.4	NP_065829.3:p.(Ile1335Val)	NC_000015.9:g.85401366A>G	(Likely) benign	1 lab	2b5c422155
1:20980880 DDOST G>A	1	20980880	20980880	G	A	DDOST	c.646-16C>T	NM_005216.5	NP_005207.3:p.?	NC_000001.10:g.20980880G>A	(Likely) benign	1 lab	e81cd5fab8
9:123171483 CDK5RAP2 T>C	9	123171483	123171483	T	C	CDK5RAP2	c.4526A>G	NM_018249.5	NP_060719.4:p.(Gln1509Arg)	NC_000009.11:g.123171483T>C	(Likely) benign	1 lab	2b5e0163f9
10:69366822 CTNNA3 A>G	10	69366822	69366822	A	G	CTNNA3	c.100-15T>C	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.69366822A>G	(Likely) benign	1 lab	2b5eacc1c7
17:18025253 MYO15A C>T	17	18025253	18025253	C	T	MYO15A	c.3139C>T	NM_016239.3	NP_057323.3:p.(Pro1047Ser)	NC_000017.10:g.18025253C>T	(Likely) benign	1 lab	2b6b553636
16:88499210 ZNF469 C>A	16	88499210	88499210	C	A	ZNF469				NC_000016.9:g.88499210C>A	VUS	1 lab	2b5fe5c046
2:80801354 CTNNA2 C>T	2	80801354	80801354	C	T	CTNNA2	c.1808C>T	NM_001282597.2	NP_001269526.1:p.(Pro603Leu)	NC_000002.11:g.80801354C>T	VUS	1 lab	2b602d1f1a
12:104157386 STAB2 G>A	12	104157386	104157386	G	A	STAB2	c.7605G>A	NM_017564.10	NP_060034.9:p.(Thr2535=)	NC_000012.11:g.104157386G>A	VUS	1 lab	2b60377769
11:1268700 MUC5B G>A	11	1268700	1268700	G	A	MUC5B	c.10590G>A	NM_002458.2	NP_002449.2:p.(Pro3530=)	NC_000011.9:g.1268700G>A	(Likely) benign	1 lab	2b6561ec21
6:10557286 GCNT2 T>G	6	10557286	10557286	T	G	GCNT2	c.630T>G	NM_001491.2	NP_001482.1:p.(Gly210=)	NC_000006.11:g.10557286T>G	(Likely) benign	1 lab	2b65717d5a
2:169801131 ABCB11 G>A	2	169801131	169801131	G	A	ABCB11	c.2594C>T	NM_003742.4	NP_003733.2:p.(Ala865Val)	NC_000002.11:g.169801131G>A	(Likely) benign	1 lab	2b6638c667
16:57951204 CNGB1 G>A	16	57951204	57951204	G	A	CNGB1	c.2134C>T	NM_001297.4	NP_001288.3:p.(Arg712Cys)	NC_000016.9:g.57951204G>A	VUS	1 lab	2b6765ec82
17:36493597 GPR179 G>A	17	36493597	36493597	G	A	GPR179	c.910C>T	NM_001004334.3	NP_001004334.3:p.(Pro304Ser)	NC_000017.10:g.36493597G>A	VUS	1 lab	2b6934984a
10:105765674 SLK C>T	10	105765674	105765674	C	T	SLK	c.2485C>T	NM_014720.4	NP_055535.2:p.(Gln829Ter)	NC_000010.10:g.105765674C>T	VUS	1 lab	2b698d2c4e
2:212251613 ERBB4 C>A	2	212251613	212251613	C	A	ERBB4	c.3446G>T	NM_005235.2	NP_005226.1:p.(Gly1149Val)	NC_000002.11:g.212251613C>A	VUS	1 lab	2b6c7c28fa
X:55650643 FOXR2 C>T	X	55650643	55650643	C	T	FOXR2	c.499C>T	NM_198451.3	NP_940853.1:p.(Leu167Phe)	NC_000023.10:g.55650643C>T	VUS	1 lab	2b6caea658
22:26872969 HPS4 T>A	22	26872969	26872969	T	A	HPS4	c.266A>T	NM_001349898.1	NP_001336827.1:p.(Asp89Val)	NC_000022.10:g.26872969T>A	VUS	1 lab	2b6e05274b
5:169446079 DOCK2 G>A	5	169446079	169446079	G	A	DOCK2	c.3348G>A	NM_004946.3	NP_004937.1:p.(Leu1116=)	NC_000005.9:g.169446079G>A	(Likely) benign	1 lab	2b70225131
12:96384302 HAL G>T	12	96384302	96384302	G	T	HAL	c.724C>A	NM_002108.3	NP_002099.1:p.(Leu242Met)	NC_000012.11:g.96384302G>T	VUS	1 lab	2b71ee97ca
3:186504403 EIF4A2 TCAAA>T	3	186504403	186504409	TCAAA	T	EIF4A2	c.743_746del	NM_001967.4	NP_001958.2:p.(Lys248SerfsTer23)	NC_000003.11:g.186504406_186504409del	(Likely) pathogenic	1 lab	e821d5100b
X:18622663 CDKL5 C>G	X	18622663	18622663	C	G	CDKL5	c.1619C>G	NM_001323289.1	NP_001310218.1:p.(Thr540Ser)	NC_000023.10:g.18622663C>G	(Likely) benign	1 lab	2b738a135d
1:103449748 COL11A1 C>T	1	103449748	103449748	C	T	COL11A1	c.2539-1G>A	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103449748C>T	(Likely) pathogenic	1 lab	2b73a90ab4
11:6585982 DNHD1 G>A	11	6585982	6585982	G	A	DNHD1	c.10704G>A	NM_144666.2	NP_653267.2:p.(Pro3568=)	NC_000011.9:g.6585982G>A	(Likely) benign	1 lab	2b73eafe70
16:71098632 HYDIN T>C	16	71098632	71098632	T	C	HYDIN	c.2187A>G	NM_001270974.2	NP_001257903.1:p.(Pro729=)	NC_000016.9:g.71098632T>C	(Likely) benign	1 lab	2b74973592
16:1720768 CRAMP1 G>C	16	1720768	1720768	G	C	CRAMP1	c.3603G>C	NM_020825.3	NP_065876.3:p.(Ser1201=)	NC_000016.9:g.1720768G>C	(Likely) benign	1 lab	2b74afcdb1
2:37336448 EIF2AK2 C>T	2	37336448	37336448	C	T	EIF2AK2	c.1378-10G>A	NM_001135651.3	NP_001129123.1:p.?	NC_000002.11:g.37336448C>T	(Likely) benign	1 lab	2b74e221b5
6:56481683 DST T>G	6	56481683	56481683	T	G	DST	c.6582A>C	NM_001723.5	NP_001714.1:p.(Ala2194=)	NC_000006.11:g.56481683T>G	(Likely) benign	1 lab	2b751d3b1a
X:151092819 MAGEA4 T>C	X	151092819	151092819	T	C	MAGEA4	c.683T>C	NM_002362.4	NP_002353.3:p.(Val228Ala)	NC_000023.10:g.151092819T>C	VUS	1 lab	2b759109d9
7:70231264 AUTS2 C>G	7	70231264	70231264	C	G	AUTS2	c.1633C>G	NM_001127231.2	NP_001120703.1:p.(Pro545Ala)	NC_000007.13:g.70231264C>G	VUS	1 lab	2b75f36fe4
11:111728463 ALG9 G>A	11	111728463	111728463	G	A	ALG9	c.53-3C>T	NM_001077691.1	NP_001071159.1:p.?	NC_000011.9:g.111728463G>A	(Likely) benign	1 lab	2b77890874
19:18273251 PIK3R2 C>T	19	18273251	18273251	C	T	PIK3R2	c.1044C>T	NM_005027.3	NP_005018.1:p.(Pro348=)	NC_000019.9:g.18273251C>T	(Likely) benign	1 lab	2b7a8b5b47
15:45895325 BLOC1S6 A>T	15	45895325	45895325	A	T	BLOC1S6	c.252A>T	NM_012388.3	NP_036520.1:p.(Thr84=)	NC_000015.9:g.45895325A>T	(Likely) benign	1 lab	2b7c9d6e08
11:121000920 TECTA C>T	11	121000920	121000920	C	T	TECTA	c.2941C>T	NM_005422.2	NP_005413.2:p.(Pro981Ser)	NC_000011.9:g.121000920C>T	VUS	1 lab	2b7d60b46c
17:7660486 DNAH2 T>C	17	7660486	7660486	T	C	DNAH2	c.1982T>C	NM_020877.3	NP_065928.2:p.(Val661Ala)	NC_000017.10:g.7660486T>C	(Likely) benign	1 lab	2b7e14e092
22:40140246 ENTHD1 G>T	22	40140246	40140246	G	T	ENTHD1	c.1262C>A	NM_152512.3	NP_689725.2:p.(Ser421Tyr)	NC_000022.10:g.40140246G>T	VUS	1 lab	2b7e5300c6
17:63221129 RGS9 C>T	17	63221129	63221129	C	T	RGS9	c.1417C>T	NM_003835.3	NP_003826.2:p.(His473Tyr)	NC_000017.10:g.63221129C>T	VUS	1 lab	2b7fb1395b
1:215824001 USH2A C>T	1	215824001	215824001	C	T	USH2A	c.14276G>A	NM_206933.2	NP_996816.2:p.(Gly4759Glu)	NC_000001.10:g.215824001C>T	(Likely) benign	1 lab	2b824ccb9c
2:166171989 SCN2A T>TGCAGCC	2	166171989	166171998	T	TGCAGCC	SCN2A	c.1396_1401dup	NM_021007.3	NP_066287.2:p.(Ala466_Ala467dup)	NC_000002.11:g.166171993_166171998dup	VUS	1 lab	e8285c68e6
11:2189365 TH G>A	11	2189365	2189365	G	A	TH	c.625C>T	NM_199292.2	NP_954986.2:p.(His209Tyr)	NC_000011.9:g.2189365G>A	VUS	1 lab	2b86351932
X:154019271 MPP1 A>G	X	154019271	154019271	A	G	MPP1	c.308T>C	NM_001166462.1	NP_001159934.1:p.(Leu103Pro)	NC_000023.10:g.154019271A>G	VUS	1 lab	2b86a59572
4:110772947 LRIT3 A>T	4	110772947	110772947	A	T	LRIT3	c.404A>T	NM_198506.4	NP_940908.3:p.(Asp135Val)	NC_000004.11:g.110772947A>T	(Likely) benign	1 lab	2b8724991f
7:21847518 DNAH11 C>G	7	21847518	21847518	C	G	DNAH11				NC_000007.13:g.21847518C>G	(Likely) benign	1 lab	2b88c33ff3
21:43809080 TMPRSS3 C>A	21	43809080	43809080	C	A	TMPRSS3	c.280G>T	NM_024022.2	NP_076927.1:p.(Gly94Ter)	NC_000021.8:g.43809080C>A	(Likely) pathogenic	1 lab	2b89c9b6a0
19:44223343 IRGC C>A	19	44223343	44223343	C	A	IRGC	c.633C>A	NM_019612.4	NP_062558.1:p.(Arg211=)	NC_000019.9:g.44223343C>A	(Likely) benign	1 lab	2b8bc9d559
5:138386693 SIL1 T>C	5	138386693	138386693	T	C	SIL1	c.287A>G	NM_001037633.1	NP_001032722.1:p.(Gln96Arg)	NC_000005.9:g.138386693T>C	VUS	1 lab	2b8f5de50c
12:7169873 C1S A>G	12	7169873	7169873	A	G	C1S	c.100A>G	NM_201442.3	NP_958850.1:p.(Ser34Gly)	NC_000012.11:g.7169873A>G	(Likely) benign	1 lab	2b90a87def
17:73732413 ITGB4 C>T	17	73732413	73732413	C	T	ITGB4	c.1806C>T	NM_000213.4	NP_000204.3:p.(His602=)	NC_000017.10:g.73732413C>T	(Likely) benign	1 lab	2b91ee6843
1:116269768 CASQ2 A>C	1	116269768	116269768	A	C	CASQ2	c.607-25T>G	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116269768A>C	(Likely) benign	1 lab	2b947c4a4b
3:4714988 ITPR1 G>A	3	4714988	4714988	G	A	ITPR1	c.2328G>A	NM_001168272.1	NP_001161744.1:p.(Val776=)	NC_000003.11:g.4714988G>A	(Likely) benign	1 lab	2b94bfbc50
5:127670517 FBN2 T>C	5	127670517	127670517	T	C	FBN2	c.3993A>G	NM_001999.3	NP_001990.2:p.(Leu1331=)	NC_000005.9:g.127670517T>C	(Likely) benign	1 lab	2b94e4b4af
5:149754951 TCOF1 G>T	5	149754951	149754951	G	T	TCOF1	c.1538G>T	NM_001135243.1	NP_001128715.1:p.(Gly513Val)	NC_000005.9:g.149754951G>T	(Likely) benign	1 lab	2b96a279f2
8:30945376 WRN AAAGAAG>A	8	30945376	30945392	AAAGAAG	A	WRN	c.1527_1532del	NM_000553.6	NP_000544.2:p.(Glu509_Glu510del)	NC_000008.10:g.30945387_30945392del	VUS	1 lab	2b979dd07d
2:179518552 TTN A>C	2	179518552	179518552	A	C	TTN	c.38537T>G	NM_001267550.1	NP_001254479.1:p.(Ile12846Ser)	NC_000002.11:g.179518552A>C	VUS	1 lab	2b9979217f
2:211442212 CPS1 G>A	2	211442212	211442212	G	A	CPS1	c.449G>A	NM_001875.4	NP_001866.2:p.(Gly150Glu)	NC_000002.11:g.211442212G>A	(Likely) benign	1 lab	2b9b7e2a69
14:94465926 CCDC197 C>T	14	94465926	94465926	C	T	CCDC197	c.105-3C>T	NM_001351596.1	NP_001338525.1:p.?	NC_000014.8:g.94465926C>T	(Likely) benign	1 lab	2b9c054d79
5:78260269 ARSB TA>T	5	78260269	78260270	TA	T	ARSB	c.659del	NM_000046.5	NP_000037.2:p.(Ile220LysfsTer4)	NC_000005.9:g.78260270del	(Likely) pathogenic	1 lab	2b9ce1812c
17:16855868 TNFRSF13B T>C	17	16855868	16855868	T	C	TNFRSF13B	c.91A>G	NM_012452.2	NP_036584.1:p.(Met31Val)	NC_000017.10:g.16855868T>C	(Likely) benign	1 lab	2b9d3198aa
11:134115405 VPS26B C>G	11	134115405	134115405	C	G	VPS26B	c.932C>G	NM_052875.5	NP_443107.1:p.(Ser311Ter)	NC_000011.9:g.134115405C>G	VUS	1 lab	2b9d4b6c9a
11:19207877 CSRP3 G>A	11	19207877	19207877	G	A	CSRP3				NC_000011.9:g.19207877G>A	(Likely) benign	1 lab	2b9f1f75f5
8:118830674 EXT1 C>T	8	118830674	118830674	C	T	EXT1	c.1632G>A	NM_000127.3	NP_000118.2:p.(Lys544=)	NC_000008.10:g.118830674C>T	(Likely) benign	1 lab	e833b9f2d0
16:2130364 TSC2 T>G	16	2130364	2130364	T	G	TSC2	c.3596T>G	NM_000548.3	NP_000539.2:p.(Val1199Gly)	NC_000016.9:g.2130364T>G	(Likely) pathogenic	1 lab	2ba01a82c8
11:101981600 YAP1 G>A	11	101981600	101981600	G	A	YAP1	c.21G>A	NM_001282101.1	NP_001269030.1:p.(Pro7=)	NC_000011.9:g.101981600G>A	(Likely) benign	1 lab	2ba0b9084b
3:124048784 KALRN T>A	3	124048784	124048784	T	A	KALRN	c.1355T>A	NM_001024660.4	NP_001019831.2:p.(Leu452Gln)	NC_000003.11:g.124048784T>A	(Likely) benign	1 lab	2ba1c19e2e
3:50197065 SEMA3F G>A	3	50197065	50197065	G	A	SEMA3F	c.10G>A	NM_004186.5	NP_004177.3:p.(Ala4Thr)	NC_000003.11:g.50197065G>A	(Likely) benign	1 lab	2ba21ad94b
17:29552120 NF1 ATAGAAGT>A	17	29552120	29552128	ATAGAAGT	A	NF1	c.1855_1861del	NM_001042492.3	NP_001035957.1:p.(Arg619ProfsTer10)	NC_000017.10:g.29552122_29552128del	(Likely) pathogenic	1 lab	2ba231480a
15:28459059 HERC2 T>C	15	28459059	28459059	T	C	HERC2	c.6615A>G	NM_004667.5	NP_004658.3:p.(Ala2205=)	NC_000015.9:g.28459059T>C	(Likely) benign	1 lab	2ba3b005d4
X:68049725 EFNB1 T>G	X	68049725	68049725	T	G	EFNB1	c.106T>G	NM_004429.4	NP_004420.1:p.(Ser36Ala)	NC_000023.10:g.68049725T>G	VUS	1 lab	2ba4c9f7df
8:100146967 VPS13B A>G	8	100146967	100146967	A	G	VPS13B	c.1302+12A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100146967A>G	(Likely) benign	1 lab	2ba72749c5
11:125299991 MISSING G>A	11	125299991	125299991	G	A	MISSING				NC_000011.9:g.125299991G>A	VUS	1 lab	2ba73419dd
22:21237759 SNAP29 A>G	22	21237759	21237759	A	G	SNAP29	c.521A>G	NM_004782.3	NP_004773.1:p.(Asp174Gly)	NC_000022.10:g.21237759A>G	(Likely) benign	1 lab	2baacb2b43
4:126238387 FAT4 C>T	4	126238387	126238387	C	T	FAT4	c.821C>T	NM_001291303.1	NP_001278232.1:p.(Ala274Val)	NC_000004.11:g.126238387C>T	VUS	1 lab	2baaf966c5
12:31244784 DDX11 C>T	12	31244784	31244784	C	T	DDX11	c.1221C>T	NM_030653.3	NP_085911.2:p.(Ser407=)	NC_000012.11:g.31244784C>T	(Likely) benign	1 lab	2bac040159
19:12920926 RNASEH2A G>A	19	12920926	12920926	G	A	RNASEH2A	c.453G>A	NM_006397.2	NP_006388.2:p.(Ala151=)	NC_000019.9:g.12920926G>A	(Likely) benign	1 lab	2baea382c0
2:228552234 SLC19A3 C>T	2	228552234	228552234	C	T	SLC19A3	c.1370G>A	NM_025243.3	NP_079519.1:p.(Ser457Asn)	NC_000002.11:g.228552234C>T	(Likely) benign	1 lab	2baeb1edf9
16:3790449 CREBBP C>G	16	3790449	3790449	C	G	CREBBP	c.4084G>C	NM_004380.2	NP_004371.2:p.(Val1362Leu)	NC_000016.9:g.3790449C>G	VUS	1 lab	2bb13f336c
10:123246934 FGFR2 C>T	10	123246934	123246934	C	T	FGFR2	c.1991G>A	NM_000141.4	NP_000132.3:p.(Arg664Gln)	NC_000010.10:g.123246934C>T	(Likely) pathogenic	1 lab	2bb1f431d6
1:1225898 SCNN1D C>T	1	1225898	1225898	C	T	SCNN1D	c.1822C>T	NM_001130413.3	NP_001123885.2:p.(Arg608Trp)	NC_000001.10:g.1225898C>T	VUS	1 lab	2bb23c4873
1:57395234 C8B A>G	1	57395234	57395234	A	G	C8B	c.1466-3T>C	NM_001278543.1	NP_001265472.1:p.?	NC_000001.10:g.57395234A>G	(Likely) benign	1 lab	2bb2a3040d
17:58012604 RPS6KB1 A>G	17	58012604	58012604	A	G	RPS6KB1	c.762A>G	NM_001272044.1	NP_001258973.1:p.(Lys254=)	NC_000017.10:g.58012604A>G	(Likely) benign	1 lab	2bb2a4ea32
6:30692039 TUBB C>T	6	30692039	30692039	C	T	TUBB	c.1260C>T	NM_001293212.1	NP_001280141.1:p.(Gly420=)	NC_000006.11:g.30692039C>T	VUS	1 lab	2bb2c10830
2:232143149 ARMC9 T>G	2	232143149	232143149	T	G	ARMC9	c.1529T>G	NM_001291656.1	NP_001278585.1:p.(Leu510Arg)	NC_000002.11:g.232143149T>G	VUS	1 lab	2bb34ea8da
19:48179135 BICRA C>G	19	48179135	48179135	C	G	BICRA	c.112C>G	NM_015711.3	NP_056526.3:p.(Pro38Ala)	NC_000019.9:g.48179135C>G	VUS	1 lab	2bb4670dd1
21:47852090 PCNT G>A	21	47852090	47852090	G	A	PCNT	c.8712G>A	NM_006031.5	NP_006022.3:p.(Ala2904=)	NC_000021.8:g.47852090G>A	(Likely) benign	1 lab	2bb6aa7e30
2:196729262 DNAH7 T>C	2	196729262	196729262	T	C	DNAH7	c.7117A>G	NM_018897.3	NP_061720.2:p.(Thr2373Ala)	NC_000002.11:g.196729262T>C	(Likely) benign	1 lab	2bb82a7f1b
19:10467392 TYK2 C>G	19	10467392	10467392	C	G	TYK2	c.2469G>C	NM_003331.4	NP_003322.3:p.(Lys823Asn)	NC_000019.9:g.10467392C>G	VUS	1 lab	2bb85f6fa0
16:30970023 SETD1A CTCTTCCCCTAACAGTGTAAATGA>C	16	30970023	30970046	CTCTTCCCCTAACAGTGTAAATGA	C	SETD1A	c.-15-14_-7del	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970024_30970046del	VUS	1 lab	e834d711f5
5:178408753 GRM6 G>C	5	178408753	178408753	G	C	GRM6	c.2539C>G	NM_000843.4	NP_000834.2:p.(Pro847Ala)	NC_000005.9:g.178408753G>C	VUS	1 lab	2bbb3a31e4
7:44102532 PGAM2 A>G	7	44102532	44102532	A	G	PGAM2	c.596-3T>C	NM_000290.3	NP_000281.2:p.?	NC_000007.13:g.44102532A>G	(Likely) benign	1 lab	2bbbe39732
1:154302887 MISSING C>T	1	154302887	154302887	C	T	MISSING				NC_000001.10:g.154302887C>T	VUS	1 lab	2bbc445fec
19:7605599 PNPLA6 G>A	19	7605599	7605599	G	A	PNPLA6	c.822+3G>A	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7605599G>A	(Likely) benign	1 lab	2bbd3672c0
1:12326967 VPS13D C>T	1	12326967	12326967	C	T	VPS13D	c.1624C>T	NM_015378.4	NP_056193.2:p.(Arg542Ter)	NC_000001.10:g.12326967C>T	VUS	1 lab	2bbe988d70
4:166986910 TLL1 G>A	4	166986910	166986910	G	A	TLL1	c.2083G>A	NM_012464.4	NP_036596.3:p.(Ala695Thr)	NC_000004.11:g.166986910G>A	(Likely) benign	1 lab	2bc050629d
5:96098042 CAST C>T	5	96098042	96098042	C	T	CAST	c.1898C>T	NM_001750.6	NP_001741.4:p.(Thr633Met)	NC_000005.9:g.96098042C>T	VUS	1 lab	2bc065ae23
2:98928717 VWA3B A>G	2	98928717	98928717	A	G	VWA3B	c.3790A>G	NM_144992.4	NP_659429.4:p.(Ile1264Val)	NC_000002.11:g.98928717A>G	(Likely) benign	1 lab	2bc07e38a9
16:77326982 ADAMTS18 C>T	16	77326982	77326982	C	T	ADAMTS18	c.2664G>A	NM_001326358.1	NP_001313287.1:p.(Ser888=)	NC_000016.9:g.77326982C>T	(Likely) benign	1 lab	2bc831b353
10:73572518 CDH23 T>C	10	73572518	73572518	T	C	CDH23	c.9511-7T>C	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73572518T>C	(Likely) benign	1 lab	2bc8349a45
19:3977486 EEF2 A>G	19	3977486	3977486	A	G	EEF2	c.2190T>C	NM_001961.3	NP_001952.1:p.(Tyr730=)	NC_000019.9:g.3977486A>G	(Likely) benign	1 lab	2bc83dd4a9
17:73745034 ITGB4 A>C	17	73745034	73745034	A	C	ITGB4	c.3224A>C	NM_000213.4	NP_000204.3:p.(Gln1075Pro)	NC_000017.10:g.73745034A>C	VUS	1 lab	2bc87dc517
2:96945252 SNRNP200 G>A	2	96945252	96945252	G	A	SNRNP200	c.5070C>T	NM_014014.4	NP_054733.2:p.(His1690=)	NC_000002.11:g.96945252G>A	(Likely) benign	1 lab	2bca04a4ba
6:90390406 MDN1 C>T	6	90390406	90390406	C	T	MDN1	c.12167G>A	NM_014611.2	NP_055426.1:p.(Arg4056His)	NC_000006.11:g.90390406C>T	VUS	1 lab	2bcb930523
17:2583437 PAFAH1B1 A>G	17	2583437	2583437	A	G	PAFAH1B1	c.1003-21A>G	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2583437A>G	(Likely) benign	1 lab	2bcc7f1819
2:170151223 LRP2 A>T	2	170151223	170151223	A	T	LRP2	c.428-3T>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170151223A>T	(Likely) benign	1 lab	2bcca24ec0
18:43450570 EPG5 G>A	18	43450570	43450570	G	A	EPG5	c.6187C>T	NM_020964.3	NP_066015.2:p.(Leu2063=)	NC_000018.9:g.43450570G>A	(Likely) benign	1 lab	2bcca90a73
3:123376082 MYLK G>A	3	123376082	123376082	G	A	MYLK	c.4179C>T	NM_053025.3	NP_444253.3:p.(Asp1393=)	NC_000003.11:g.123376082G>A	(Likely) benign	1 lab	2bcdb1527f
7:100850188 PLOD3 G>A	7	100850188	100850188	G	A	PLOD3	c.1936-3C>T	NM_001084.4	NP_001075.1:p.?	NC_000007.13:g.100850188G>A	(Likely) benign	1 lab	2bce03d088
1:61921034 NFIA C>T	1	61921034	61921034	C	T	NFIA	c.1480C>T	NM_005595.4	NP_005586.1:p.(Pro494Ser)	NC_000001.10:g.61921034C>T	(Likely) benign	1 lab	2bcf5ac85e
7:92135665 PEX1 A>C	7	92135665	92135665	A	C	PEX1	c.1180-7T>G	NM_001282678.1	NP_001269607.1:p.?	NC_000007.13:g.92135665A>C	(Likely) benign	1 lab	2bd1317272
1:11854046 MTHFR T>C	1	11854046	11854046	T	C	MTHFR	c.1448A>G	NM_005957.4	NP_005948.3:p.(Asn483Ser)	NC_000001.10:g.11854046T>C	VUS	1 lab	2bd1fe757d
17:41244098 BRCA1 AG>A	17	41244098	41244100	AG	A	BRCA1	c.3449del	NM_007294.4	NP_009225.1:p.(Pro1150LeufsTer5)	NC_000017.10:g.41244100del	(Likely) pathogenic	1 lab	e83a6bae24
7:121766441 AASS C>T	7	121766441	121766441	C	T	AASS	c.460G>A	NM_005763.3	NP_005754.2:p.(Ala154Thr)	NC_000007.13:g.121766441C>T	VUS	1 lab	2bd3259a4b
8:2044203 MYOM2 G>A	8	2044203	2044203	G	A	MYOM2	c.2242G>A	NM_003970.4	NP_003961.3:p.(Asp748Asn)	NC_000008.10:g.2044203G>A	VUS	1 lab	e83f96c478
4:123664546 BBS12 T>C	4	123664546	123664546	T	C	BBS12	c.1499T>C	NM_001178007.1	NP_001171478.1:p.(Val500Ala)	NC_000004.11:g.123664546T>C	VUS	1 lab	2bd38a8d60
7:105172803 RINT1 C>T	7	105172803	105172803	C	T	RINT1	c.41C>T	NM_021930.5	NP_068749.3:p.(Pro14Leu)	NC_000007.13:g.105172803C>T	(Likely) benign	1 lab	2bd49778a4
3:46011162 FYCO1 C>T	3	46011162	46011162	C	T	FYCO1	c.630+5G>A	NM_024513.3	NP_078789.2:p.?	NC_000003.11:g.46011162C>T	VUS	1 lab	2bd49c27f6
1:156517951 IQGAP3 G>A	1	156517951	156517951	G	A	IQGAP3	c.2218C>T	NM_178229.5	NP_839943.3:p.(Arg740Cys)	NC_000001.10:g.156517951G>A	(Likely) benign	1 lab	2bd4b1bea6
17:29496920 NF1 T>TA	17	29496920	29496922	T	TA	NF1	c.493dup	NM_000267.3	NP_000258.1:p.(Thr165AsnfsTer9)	NC_000017.10:g.29496922dup	(Likely) pathogenic	1 lab	2bd4e21056
11:117234138 CEP164 T>C	11	117234138	117234138	T	C	CEP164	c.688-7T>C	NM_014956.4	NP_055771.4:p.?	NC_000011.9:g.117234138T>C	(Likely) benign	1 lab	2bd4fc2a6e
19:55667970 TNNI3 C>A	19	55667970	55667970	C	A	TNNI3	c.150+1G>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667970C>A	(Likely) pathogenic	1 lab	e841db3a2b
11:558669 LMNTD2 C>T	11	558669	558669	C	T	LMNTD2	c.256G>A	NM_173573.3	NP_775844.2:p.(Glu86Lys)	NC_000011.9:g.558669C>T	(Likely) benign	1 lab	2bd729b667
X:148585690 IDS C>T	X	148585690	148585690	C	T	IDS	c.11G>A	NM_001166550.3	NP_001160022.1:p.(Arg4His)	NC_000023.10:g.148585690C>T	(Likely) benign	1 lab	2bd8d0149f
1:22216632 HSPG2 T>A	1	22216632	22216632	T	A	HSPG2	c.416A>T	NM_001291860.1	NP_001278789.1:p.(Glu139Val)	NC_000001.10:g.22216632T>A	VUS	1 lab	2bd930ccfe
4:184614834 TRAPPC11 A>G	4	184614834	184614834	A	G	TRAPPC11	c.2330A>G	NM_021942.5	NP_068761.4:p.(Gln777Arg)	NC_000004.11:g.184614834A>G	VUS	1 lab	2bd9d2ddcc
1:39815149 MACF1 G>A	1	39815149	39815149	G	A	MACF1	c.4630-1G>A	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39815149G>A	VUS	1 lab	2bdaab88c0
3:48624932 COL7A1 C>T	3	48624932	48624932	C	T	COL7A1	c.2913G>A	NM_000094.3	NP_000085.1:p.(Ser971=)	NC_000003.11:g.48624932C>T	(Likely) benign	1 lab	2bdc2dad05
1:16475266 EPHA2 T>C	1	16475266	16475266	T	C	EPHA2	c.430A>G	NM_004431.4	NP_004422.2:p.(Thr144Ala)	NC_000001.10:g.16475266T>C	VUS	1 lab	2bdc3742c3
18:21513823 LAMA3 T>G	18	21513823	21513823	T	G	LAMA3	c.3959T>G	NM_000227.6	NP_000218.3:p.(Leu1320Ter)	NC_000018.9:g.21513823T>G	(Likely) pathogenic	1 lab	e841e33f99
2:9650126 ADAM17 G>A	2	9650126	9650126	G	A	ADAM17	c.1326C>T	NM_003183.6	NP_003174.3:p.(Gly442=)	NC_000002.11:g.9650126G>A	(Likely) benign	1 lab	2bdccf64d2
11:78285480 NARS2 G>A	11	78285480	78285480	G	A	NARS2	c.54C>T	NM_024678.6	NP_078954.4:p.(Pro18=)	NC_000011.9:g.78285480G>A	(Likely) benign	1 lab	2bdcef173c
2:149866787 KIF5C T>C	2	149866787	149866787	T	C	KIF5C	c.2689T>C	NM_004522.3	NP_004513.1:p.(Tyr897His)	NC_000002.11:g.149866787T>C	VUS	1 lab	2be22eeea1
5:127610294 FBN2 G>A	5	127610294	127610294	G	A	FBN2	c.7676C>T	NM_001999.3	NP_001990.2:p.(Pro2559Leu)	NC_000005.9:g.127610294G>A	VUS	1 lab	2be301d221
1:150316921 PRPF3 A>G	1	150316921	150316921	A	G	PRPF3	c.1133A>G	NM_001350529.1	NP_001337458.1:p.(Glu378Gly)	NC_000001.10:g.150316921A>G	VUS	1 lab	2be3260b4c
2:20130317 WDR35 C>A	2	20130317	20130317	C	A	WDR35	c.2998-4G>T	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20130317C>A	(Likely) benign	1 lab	2be3efacf7
13:48939088 RB1 C>T	13	48939088	48939088	C	T	RB1	c.920C>T	NM_000321.2	NP_000312.2:p.(Thr307Ile)	NC_000013.10:g.48939088C>T	(Likely) benign	1 lab	2be44e38f2
2:8940548 KIDINS220 A>G	2	8940548	8940548	A	G	KIDINS220	c.882T>C	NM_001348738.1	NP_001335667.1:p.(Asp294=)	NC_000002.11:g.8940548A>G	(Likely) benign	1 lab	2be46a9e4c
16:2134615 TSC2 C>T	16	2134615	2134615	C	T	TSC2	c.4323C>T	NM_001114382.2	NP_001107854.1:p.(Ser1441=)	NC_000016.9:g.2134615C>T	(Likely) benign	1 lab	2be48486c7
X:18338515 SCML2 C>A	X	18338515	18338515	C	A	SCML2	c.423G>T	NM_006089.2	NP_006080.1:p.(Trp141Cys)	NC_000023.10:g.18338515C>A	VUS	1 lab	2be606c152
20:1585445 SIRPB1 C>A	20	1585445	1585445	C	A	SIRPB1	c.694G>T	NM_001135844.3	NP_001129316.1:p.(Val232Phe)	NC_000020.10:g.1585445C>A	(Likely) benign	1 lab	2be77a3c78
6:10398755 TFAP2A G>A	6	10398755	10398755	G	A	TFAP2A	c.1191C>T	NM_001032280.2	NP_001027451.1:p.(Thr397=)	NC_000006.11:g.10398755G>A	(Likely) benign	1 lab	2be7faec44
X:152101429 ZNF185 G>C	X	152101429	152101429	G	C	ZNF185	c.1032G>C	NM_001178106.1	NP_001171577.1:p.(Gln344His)	NC_000023.10:g.152101429G>C	(Likely) benign	1 lab	2be8075a7a
11:17522631 USH1C C>A	11	17522631	17522631	C	A	USH1C	c.2347G>T	NM_153676.3	NP_710142.1:p.(Ala783Ser)	NC_000011.9:g.17522631C>A	(Likely) benign	1 lab	2be9815ce6
15:85327798 ZNF592 G>C	15	85327798	85327798	G	C	ZNF592	c.1892G>C	NM_014630.2	NP_055445.2:p.(Ser631Thr)	NC_000015.9:g.85327798G>C	VUS	1 lab	2be999d898
3:4714895 ITPR1 G>T	3	4714895	4714895	G	T	ITPR1	c.2235G>T	NM_001168272.1	NP_001161744.1:p.(Leu745=)	NC_000003.11:g.4714895G>T	(Likely) benign	1 lab	2be9bb07a8
16:79628410 MAF C>T	16	79628410	79628410	C	T	MAF	c.1159G>A	NM_005360.4	NP_005351.2:p.(Ala387Thr)	NC_000016.9:g.79628410C>T	(Likely) benign	1 lab	2bea2d7559
13:100861586 PCCA G>T	13	100861586	100861586	G	T	PCCA	c.469G>T	NM_000282.3	NP_000273.2:p.(Ala157Ser)	NC_000013.10:g.100861586G>T	(Likely) benign	1 lab	2beadb9499
2:170177287 LRP2 C>T	2	170177287	170177287	C	T	LRP2	c.187G>A	NM_004525.3	NP_004516.2:p.(Ala63Thr)	NC_000002.11:g.170177287C>T	VUS	1 lab	2bebe9e039
5:60821698 ZSWIM6 A>G	5	60821698	60821698	A	G	ZSWIM6	c.1585A>G	NM_020928.2	NP_065979.1:p.(Ser529Gly)	NC_000005.9:g.60821698A>G	VUS	1 lab	e844366d14
11:428540 ANO9 C>G	11	428540	428540	C	G	ANO9	c.1120G>C	NM_001012302.2	NP_001012302.2:p.(Val374Leu)	NC_000011.9:g.428540C>G	(Likely) benign	1 lab	2bec56b306
19:10473033 TYK2 C>T	19	10473033	10473033	C	T	TYK2	c.1576G>A	NM_003331.4	NP_003322.3:p.(Val526Ile)	NC_000019.9:g.10473033C>T	(Likely) benign	1 lab	2bedd58d2a
2:228560697 SLC19A3 T>TA	2	228560697	228560700	T	TA	SLC19A3	c.1079dup	NM_025243.4	NP_079519.1:p.(Leu360PhefsTer38)	NC_000002.11:g.228560700dup	(Likely) pathogenic	1 lab	e84604e19e
1:38082222 RSPO1 C>T	1	38082222	38082222	C	T	RSPO1	c.220G>A	NM_001038633.3	NP_001033722.1:p.(Val74Ile)	NC_000001.10:g.38082222C>T	(Likely) benign	1 lab	2bf04d017a
1:156142697 SEMA4A G>T	1	156142697	156142697	G	T	SEMA4A	c.1215G>T	NM_001193300.1	NP_001180229.1:p.(Thr405=)	NC_000001.10:g.156142697G>T	(Likely) benign	1 lab	2bf0fcd6a6
4:8401336 ACOX3 G>C	4	8401336	8401336	G	C	ACOX3	c.820C>G	NM_003501.3	NP_003492.2:p.(Leu274Val)	NC_000004.11:g.8401336G>C	VUS	1 lab	2bf246754a
17:29587386 NF1 G>A	17	29587386	29587386	G	A	NF1	c.4368-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587386G>A	(Likely) pathogenic	1 lab	2bf284b3df
11:65488169 RNASEH2C A>G	11	65488169	65488169	A	G	RNASEH2C	c.61T>C	NM_032193.3	NP_115569.2:p.(Leu21=)	NC_000011.9:g.65488169A>G	(Likely) benign	1 lab	2bf423911e
22:19748456 TBX1 G>T	22	19748456	19748456	G	T	TBX1	c.63G>T	NM_080647.1	NP_542378.1:p.(Leu21=)	NC_000022.10:g.19748456G>T	(Likely) benign	1 lab	2bf44186dd
11:126215473 DCPS CT>C	11	126215473	126215474	CT	C	DCPS	c.980del	NM_014026.6	NP_054745.1:p.(Leu327ArgfsTer77)	NC_000011.9:g.126215474del	VUS	1 lab	2bf44fd76b
5:13830696 DNAH5 T>C	5	13830696	13830696	T	C	DNAH5	c.6061+10A>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13830696T>C	(Likely) benign	1 lab	2bf482c0cb
14:95571498 DICER1 C>T	14	95571498	95571498	C	T	DICER1	c.3179G>A	NM_030621.4	NP_085124.2:p.(Arg1060His)	NC_000014.8:g.95571498C>T	VUS	1 lab	2bf5c4d1ea
15:42974378 STARD9 G>C	15	42974378	42974378	G	C	STARD9	c.2142G>C	NM_020759.3	NP_065810.2:p.(Glu714Asp)	NC_000015.9:g.42974378G>C	(Likely) benign	1 lab	2bf7130cf8
X:100395693 CENPI T>C	X	100395693	100395693	T	C	CENPI	c.1509T>C	NM_006733.3	NP_006724.2:p.(Asn503=)	NC_000023.10:g.100395693T>C	(Likely) benign	1 lab	2bf872cf8a
1:45392302 EIF2B3 C>A	1	45392302	45392302	C	A	EIF2B3	c.564G>T	NM_020365.4	NP_065098.1:p.(Gln188His)	NC_000001.10:g.45392302C>A	(Likely) benign	1 lab	2bf996dcde
3:25666227 TOP2B T>C	3	25666227	25666227	T	C	TOP2B	c.2292A>G	NM_001330700.1	NP_001317629.1:p.(Lys764=)	NC_000003.11:g.25666227T>C	(Likely) benign	1 lab	2bfc15b158
10:85964322 CDHR1 C>T	10	85964322	85964322	C	T	CDHR1	c.823C>T	NM_033100.4	NP_149091.1:p.(Arg275Trp)	NC_000010.10:g.85964322C>T	VUS	1 lab	2bfe8b38d6
2:234869699 TRPM8 A>G	2	234869699	234869699	A	G	TRPM8	c.1642A>G	NM_024080.5	NP_076985.4:p.(Ile548Val)	NC_000002.11:g.234869699A>G	(Likely) benign	1 lab	2bfe989bbd
11:47189729 ARFGAP2 G>A	11	47189729	47189729	G	A	ARFGAP2	c.931C>T	NM_001242832.1	NP_001229761.1:p.(Arg311Cys)	NC_000011.9:g.47189729G>A	VUS	1 lab	2bfea4055e
17:44039758 MAPT G>T	17	44039758	44039758	G	T	MAPT	c.55G>T	NM_001123066.3	NP_001116538.2:p.(Gly19Trp)	NC_000017.10:g.44039758G>T	VUS	1 lab	2bfee830c6
13:48542782 SUCLA2 G>A	13	48542782	48542782	G	A	SUCLA2	c.750C>T	NM_003850.2	NP_003841.1:p.(Tyr250=)	NC_000013.10:g.48542782G>A	(Likely) benign	1 lab	2c0025572f
7:12665448 SCIN G>A	7	12665448	12665448	G	A	SCIN	c.954G>A	NM_001112706.3	NP_001106177.1:p.(Gln318=)	NC_000007.13:g.12665448G>A	(Likely) benign	1 lab	2c0060932f
19:42498220 ATP1A3 T>C	19	42498220	42498220	T	C	ATP1A3	c.6+3A>G	NM_001256214.1	NP_001243143.1:p.?	NC_000019.9:g.42498220T>C	(Likely) benign	1 lab	2c00f605e4
2:219526148 BCS1L C>T	2	219526148	219526148	C	T	BCS1L	c.340C>T	NM_004328.4	NP_004319.1:p.(Arg114Trp)	NC_000002.11:g.219526148C>T	VUS	1 lab	2c01b07367
22:51154151 MISSING C>A	22	51154151	51154151	C	A	MISSING				NC_000022.10:g.51154151C>A	(Likely) benign	1 lab	2c030047aa
19:17387390 BABAM1 G>A	19	17387390	17387390	G	A	BABAM1	c.656G>A	NM_001033549.2	NP_001028721.1:p.(Arg219His)	NC_000019.9:g.17387390G>A	VUS	1 lab	2c04b42104
X:153688579 PLXNA3 G>A	X	153688579	153688579	G	A	PLXNA3	c.56G>A	NM_017514.4	NP_059984.3:p.(Gly19Asp)	NC_000023.10:g.153688579G>A	(Likely) benign	1 lab	2c07003150
X:129184715 BCORL1 C>T	X	129184715	129184715	C	T	BCORL1	c.4864C>T	NM_001184772.2	NP_001171701.1:p.(Arg1622Trp)	NC_000023.10:g.129184715C>T	(Likely) benign	1 lab	2c07e01da7
17:19247021 B9D1 A>T	17	19247021	19247021	A	T	B9D1	c.613T>A	NM_001243473.1	NP_001230402.1:p.(Cys205Ser)	NC_000017.10:g.19247021A>T	(Likely) benign	1 lab	2c0ae18689
2:234669509 UGT1A1 C>A	2	234669509	234669509	C	A	UGT1A1	c.576C>A	NM_000463.2	NP_000454.1:p.(Tyr192Ter)	NC_000002.11:g.234669509C>A	(Likely) pathogenic	1 lab	2c0c8f3c83
2:109546693 EDAR A>T	2	109546693	109546693	A	T	EDAR	c.57T>A	NM_022336.3	NP_071731.1:p.(Ser19=)	NC_000002.11:g.109546693A>T	(Likely) benign	1 lab	2c0d4c0c24
6:152501437 SYNE1 G>A	6	152501437	152501437	G	A	SYNE1	c.23302-8C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152501437G>A	(Likely) benign	1 lab	2c0e1b6720
6:160455520 IGF2R G>C	6	160455520	160455520	G	C	IGF2R	c.1281G>C	NM_000876.3	NP_000867.2:p.(Met427Ile)	NC_000006.11:g.160455520G>C	VUS	1 lab	2c0e4f7c0c
X:91131887 PCDH11X G>A	X	91131887	91131887	G	A	PCDH11X	c.648G>A	NM_032968.4	NP_116750.1:p.(Val216=)	NC_000023.10:g.91131887G>A	(Likely) benign	1 lab	2c0eee6b66
X:100613694 BTK C>T	X	100613694	100613694	C	T	BTK	c.997-10G>A	NM_001287344.1	NP_001274273.1:p.?	NC_000023.10:g.100613694C>T	(Likely) benign	1 lab	2c1357354c
7:1510510 INTS1 G>T	7	1510510	1510510	G	T	INTS1	c.6429C>A	NM_001080453.3	NP_001073922.2:p.(Asn2143Lys)	NC_000007.13:g.1510510G>T	VUS	1 lab	2c14924dd1
2:170493155 PPIG A>G	2	170493155	170493155	A	G	PPIG	c.1387A>G	NM_004792.3	NP_004783.2:p.(Lys463Glu)	NC_000002.11:g.170493155A>G	VUS	1 lab	2c14d7934a
7:19156583 TWIST1 G>A	7	19156583	19156583	G	A	TWIST1	c.362C>T	NM_000474.3	NP_000465.1:p.(Thr121Ile)	NC_000007.13:g.19156583G>A	(Likely) pathogenic	1 lab	2c15455c79
X:153667176 GDI1 T>C	X	153667176	153667176	T	C	GDI1	c.219T>C	NM_001493.3	NP_001484.1:p.(Asn73=)	NC_000023.10:g.153667176T>C	(Likely) benign	1 lab	e849868a3b
16:30997437 HSD3B7 C>G	16	30997437	30997437	C	G	HSD3B7	c.234C>G	NM_001142777.1	NP_001136249.1:p.(Ala78=)	NC_000016.9:g.30997437C>G	(Likely) benign	1 lab	2c179f91ef
15:86807694 AGBL1 A>G	15	86807694	86807694	A	G	AGBL1	c.1292A>G	NM_152336.3	NP_689549.3:p.(Lys431Arg)	NC_000015.9:g.86807694A>G	(Likely) benign	1 lab	2c180a9a41
12:21721888 GYS2 T>C	12	21721888	21721888	T	C	GYS2	c.734A>G	NM_021957.4	NP_068776.2:p.(Glu245Gly)	NC_000012.11:g.21721888T>C	VUS	1 lab	2c18ecae5c
17:80045121 FASN C>T	17	80045121	80045121	C	T	FASN	c.3232G>A	NM_004104.5	NP_004095.4:p.(Val1078Met)	NC_000017.10:g.80045121C>T	(Likely) benign	1 lab	2c19801c5c
17:26851943 FOXN1 C>T	17	26851943	26851943	C	T	FOXN1	c.546C>T	NM_003593.2	NP_003584.2:p.(Asn182=)	NC_000017.10:g.26851943C>T	(Likely) benign	1 lab	2c1a586974
X:23740110 ACOT9 CAG>C	X	23740110	23740113	CAG	C	ACOT9	c.485-11_485-10del	NM_001037171.2	NP_001032248.1:p.?	NC_000023.10:g.23740112_23740113del	(Likely) benign	1 lab	2c1bc8e31a
3:4856104 ITPR1 C>T	3	4856104	4856104	C	T	ITPR1	c.7373-3C>T	NM_002222.7	NP_002213.5:p.?	NC_000003.11:g.4856104C>T	(Likely) benign	1 lab	e8527f8df0
2:240061404 HDAC4 G>A	2	240061404	240061404	G	A	HDAC4	c.954C>T	NM_006037.3	NP_006028.2:p.(Pro318=)	NC_000002.11:g.240061404G>A	(Likely) benign	1 lab	2c1cfc5768
17:72368080 GPR142 G>A	17	72368080	72368080	G	A	GPR142	c.730G>A	NM_181790.1	NP_861455.1:p.(Ala244Thr)	NC_000017.10:g.72368080G>A	VUS	1 lab	2c1e05e885
7:91630882 AKAP9 A>G	7	91630882	91630882	A	G	AKAP9	c.1651A>G	NM_005751.4	NP_005742.4:p.(Ile551Val)	NC_000007.13:g.91630882A>G	VUS	1 lab	2c1e282aeb
X:153553746 TKTL1 G>A	X	153553746	153553746	G	A	TKTL1	c.1379G>A	NM_012253.3	NP_036385.3:p.(Arg460His)	NC_000023.10:g.153553746G>A	(Likely) benign	1 lab	2c2004425a
6:132271952 CCN2 G>C	6	132271952	132271952	G	C	CCN2	c.247C>G	NM_001901.4	NP_001892.2:p.(His83Asp)	NC_000006.11:g.132271952G>C	(Likely) benign	1 lab	e85863e333
13:73482664 PIBF1 A>G	13	73482664	73482664	A	G	PIBF1	c.1489-5A>G	NM_006346.4	NP_006337.2:p.?	NC_000013.10:g.73482664A>G	VUS	1 lab	e85de97638
15:89876858 POLG T>C	15	89876858	89876858	T	C	POLG	c.128A>G	NM_002693.2	NP_002684.1:p.(Gln43Arg)	NC_000015.9:g.89876858T>C	VUS	1 lab	2c2606f111
13:32929185 BRCA2 A>C	13	32929185	32929185	A	C	BRCA2	c.7195A>C	NM_000059.3	NP_000050.2:p.(Thr2399Pro)	NC_000013.10:g.32929185A>C	(Likely) benign	1 lab	2c27102bb9
7:74197950 NCF1 G>C	7	74197950	74197950	G	C	NCF1	c.657G>C	NM_000265.5	NP_000256.4:p.(Thr219=)	NC_000007.13:g.74197950G>C	(Likely) benign	1 lab	2c2769428e
19:50143199 RRAS C>G	19	50143199	50143199	C	G	RRAS	c.153+4G>C	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50143199C>G	(Likely) benign	1 lab	e85eff68ed
10:122649482 WDR11 A>G	10	122649482	122649482	A	G	WDR11	c.2304A>G	NM_018117.12	NP_060587.8:p.(Ala768=)	NC_000010.10:g.122649482A>G	(Likely) benign	1 lab	e85f22d837
X:46433572 CHST7 C>A	X	46433572	46433572	C	A	CHST7	c.206C>A	NM_019886.3	NP_063939.2:p.(Ala69Glu)	NC_000023.10:g.46433572C>A	(Likely) benign	1 lab	2c2835d9f6
10:18803963 CACNB2 G>A	10	18803963	18803963	G	A	CACNB2	c.641G>A	NM_201572.3	NP_963866.2:p.(Arg214Gln)	NC_000010.10:g.18803963G>A	VUS	1 lab	2c28734e16
10:103827412 HPS6 A>G	10	103827412	103827412	A	G	HPS6	c.2181A>G	NM_024747.5	NP_079023.2:p.(Ala727=)	NC_000010.10:g.103827412A>G	(Likely) benign	1 lab	2c2bdb3739
1:200950209 KIF21B C>T	1	200950209	200950209	C	T	KIF21B	c.3858G>A	NM_001252100.1	NP_001239029.1:p.(Pro1286=)	NC_000001.10:g.200950209C>T	VUS	1 lab	2c2e25330b
3:184037467 EIF4G1 C>G	3	184037467	184037467	C	G	EIF4G1	c.425-10C>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184037467C>G	(Likely) benign	1 lab	2c2e4c5704
9:139347952 SEC16A C>T	9	139347952	139347952	C	T	SEC16A	c.6087G>A	NM_014866.1	NP_055681.1:p.(Pro2029=)	NC_000009.11:g.139347952C>T	(Likely) benign	1 lab	2c2f7933dd
1:228353528 IBA57 C>T	1	228353528	228353528	C	T	IBA57	c.11C>T	NM_001010867.3	NP_001010867.1:p.(Ala4Val)	NC_000001.10:g.228353528C>T	(Likely) benign	1 lab	2c2f9b3444
11:822389 PNPLA2 C>T	11	822389	822389	C	T	PNPLA2	c.487-8C>T	NM_020376.3	NP_065109.1:p.?	NC_000011.9:g.822389C>T	(Likely) benign	1 lab	2c32af054c
X:125686200 DCAF12L1 G>C	X	125686200	125686200	G	C	DCAF12L1	c.392C>G	NM_178470.4	NP_848565.2:p.(Ala131Gly)	NC_000023.10:g.125686200G>C	(Likely) benign	1 lab	2c32cb52c1
8:90796347 RIPK2 G>A	8	90796347	90796347	G	A	RIPK2	c.1009G>A	NM_003821.5	NP_003812.1:p.(Val337Ile)	NC_000008.10:g.90796347G>A	(Likely) benign	1 lab	2c34466c6e
7:103276668 RELN C>T	7	103276668	103276668	C	T	RELN	c.2303+14G>A	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103276668C>T	(Likely) benign	1 lab	2c34d033b5
6:16327894 ATXN1 C>A	6	16327894	16327894	C	A	ATXN1	c.648G>T	NM_000332.3	NP_000323.2:p.(Gln216His)	NC_000006.11:g.16327894C>A	(Likely) benign	1 lab	2c3531e6b2
14:100377871 EML1 C>T	14	100377871	100377871	C	T	EML1	c.1509C>T	NM_001008707.1	NP_001008707.1:p.(Leu503=)	NC_000014.8:g.100377871C>T	(Likely) benign	1 lab	2c35674ff9
2:74688861 MOGS A>G	2	74688861	74688861	A	G	MOGS	c.2055T>C	NM_006302.3	NP_006293.2:p.(Tyr685=)	NC_000002.11:g.74688861A>G	(Likely) benign	1 lab	2c35ac3897
16:88803974 PIEZO1 C>T	16	88803974	88803974	C	T	PIEZO1	c.1188G>A	NM_001142864.4	NP_001136336.2:p.(Arg396=)	NC_000016.9:g.88803974C>T	(Likely) benign	1 lab	2c3bfcb016
19:17955111 JAK3 TG>T	19	17955111	17955118	TG	T	JAK3	c.115del	NM_000215.4	NP_000206.2:p.(Gln39SerfsTer108)	NC_000019.9:g.17955118del	(Likely) pathogenic	1 lab	2c3d2be1d4
X:153296108 MECP2 G>T	X	153296108	153296108	G	T	MECP2	c.1171C>A	NM_004992.3	NP_004983.1:p.(Pro391Thr)	NC_000023.10:g.153296108G>T	(Likely) benign	1 lab	2c3de89429
1:11854085 MTHFR TC>AG	1	11854085	11854086	TC	AG	MTHFR	c.1408_1409delinsCT	NM_005957.4	NP_005948.3:p.(Glu470Leu)	NC_000001.10:g.11854085_11854086delinsAG	VUS	1 lab	2c3f3f35a6
3:172835125 SPATA16 T>C	3	172835125	172835125	T	C	SPATA16	c.397A>G	NM_031955.6	NP_114161.3:p.(Met133Val)	NC_000003.11:g.172835125T>C	(Likely) benign	1 lab	e868605269
1:26774123 DHDDS G>C	1	26774123	26774123	G	C	DHDDS	c.235G>C	NM_001319959.1	NP_001306888.1:p.(Gly79Arg)	NC_000001.10:g.26774123G>C	VUS	1 lab	2c3fd6cf10
9:14784456 FREM1 T>C	9	14784456	14784456	T	C	FREM1	c.4354A>G	NM_144966.7	NP_659403.4:p.(Ile1452Val)	NC_000009.11:g.14784456T>C	VUS	1 lab	e8689bca19
16:57005550 CETP C>T	16	57005550	57005550	C	T	CETP	c.658+257C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005550C>T	(Likely) benign	1 lab	2c0960f72a
20:62190695 HELZ2 G>A	20	62190695	62190695	G	A	HELZ2	c.7854C>T	NM_001037335.2	NP_001032412.2:p.(Pro2618=)	NC_000020.10:g.62190695G>A	(Likely) benign	1 lab	2c443a95c8
16:2121619 TSC2 T>C	16	2121619	2121619	T	C	TSC2	c.1946+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121619T>C	(Likely) pathogenic	1 lab	2c445291c5
X:75648837 MAGEE1 A>C	X	75648837	75648837	A	C	MAGEE1	c.514A>C	NM_020932.2	NP_065983.1:p.(Thr172Pro)	NC_000023.10:g.75648837A>C	(Likely) benign	1 lab	2c4484f03c
11:93529646 MED17 G>A	11	93529646	93529646	G	A	MED17	c.1083G>A	NM_004268.4	NP_004259.3:p.(Lys361=)	NC_000011.9:g.93529646G>A	(Likely) benign	1 lab	2c44e0f28e
6:33132632 COL11A2 C>T	6	33132632	33132632	C	T	COL11A2	c.4860G>A	NM_080680.2	NP_542411.2:p.(Thr1620=)	NC_000006.11:g.33132632C>T	(Likely) benign	1 lab	2c45a524b7
17:29486072 NF1 G>A	17	29486072	29486072	G	A	NF1	c.249G>A	NM_000267.3	NP_000258.1:p.(Gln83=)	NC_000017.10:g.29486072G>A	(Likely) benign	1 lab	2c4824d491
16:89703650 DPEP1 C>T	16	89703650	89703650	C	T	DPEP1	c.630C>T	NM_004413.3	NP_004404.1:p.(Ile210=)	NC_000016.9:g.89703650C>T	(Likely) benign	1 lab	2c486b2d51
6:32827301 PSMB9 G>C	6	32827301	32827301	G	C	PSMB9	c.652G>C	NM_002800.5	NP_002791.1:p.(Asp218His)	NC_000006.11:g.32827301G>C	VUS	1 lab	2c495a835f
3:128616475 ACAD9 T>G	3	128616475	128616475	T	G	ACAD9	c.555T>G	NM_014049.4	NP_054768.2:p.(Ser185Arg)	NC_000003.11:g.128616475T>G	VUS	1 lab	2c4b63dcbb
16:88643665 ZC3H18 C>T	16	88643665	88643665	C	T	ZC3H18	c.134C>T	NM_001294340.1	NP_001281269.1:p.(Ala45Val)	NC_000016.9:g.88643665C>T	(Likely) benign	1 lab	2c4b6a53b2
3:38941437 SCN11A A>G	3	38941437	38941437	A	G	SCN11A	c.1970T>C	NM_001349253.1	NP_001336182.1:p.(Met657Thr)	NC_000003.11:g.38941437A>G	(Likely) benign	1 lab	2c4cbc5c92
1:205884524 SLC26A9 G>A	1	205884524	205884524	G	A	SLC26A9	c.2337C>T	NM_052934.4	NP_443166.1:p.(Phe779=)	NC_000001.10:g.205884524G>A	(Likely) benign	1 lab	2c4d096ac5
19:36210875 KMT2B G>A	19	36210875	36210875	G	A	KMT2B	c.626G>A	NM_014727.2	NP_055542.1:p.(Arg209Gln)	NC_000019.9:g.36210875G>A	(Likely) benign	1 lab	2c4db64e55
17:44101354 MAPT C>T	17	44101354	44101354	C	T	MAPT	c.2148C>T	NM_001123066.3	NP_001116538.2:p.(Asn716=)	NC_000017.10:g.44101354C>T	(Likely) benign	1 lab	2c4dc4e278
9:73151003 TRPM3 G>A	9	73151003	73151003	G	A	TRPM3				NC_000009.11:g.73151003G>A	VUS	1 lab	2c4dfc0f87
6:161969908 PRKN C>T	6	161969908	161969908	C	T	PRKN	c.1061G>A	NM_004562.2	NP_004553.2:p.(Gly354Glu)	NC_000006.11:g.161969908C>T	(Likely) benign	1 lab	2c4ea0b852
9:14842357 FREM1 T>G	9	14842357	14842357	T	G	FREM1	c.1695A>C	NM_144966.5	NP_659403.4:p.(Pro565=)	NC_000009.11:g.14842357T>G	(Likely) benign	1 lab	2c506fbeed
5:127782242 FBN2 G>A	5	127782242	127782242	G	A	FBN2	c.884C>T	NM_001999.3	NP_001990.2:p.(Thr295Ile)	NC_000005.9:g.127782242G>A	VUS	1 lab	2c50d16afd
11:117864008 IL10RA C>T	11	117864008	117864008	C	T	IL10RA	c.420C>T	NM_001558.3	NP_001549.2:p.(Leu140=)	NC_000011.9:g.117864008C>T	(Likely) benign	1 lab	2c5138e6a5
X:48823050 KCND1 C>T	X	48823050	48823050	C	T	KCND1	c.1402G>A	NM_004979.5	NP_004970.3:p.(Val468Ile)	NC_000023.10:g.48823050C>T	(Likely) benign	1 lab	2c536550c0
6:15523242 DTNBP1 C>G	6	15523242	15523242	C	G	DTNBP1	c.777G>C	NM_001271667.1	NP_001258596.1:p.(Glu259Asp)	NC_000006.11:g.15523242C>G	(Likely) benign	1 lab	2c53ce352d
16:89350146 ANKRD11 G>A	16	89350146	89350146	G	A	ANKRD11	c.2804C>T	NM_001256182.1	NP_001243111.1:p.(Ser935Leu)	NC_000016.9:g.89350146G>A	(Likely) benign	1 lab	2c5531dded
X:13778322 OFD1 C>G	X	13778322	13778322	C	G	OFD1	c.1323C>G	NM_001330210.1	NP_001317139.1:p.(Cys441Trp)	NC_000023.10:g.13778322C>G	(Likely) benign	1 lab	2c555e7142
X:37431250 LANCL3 C>G	X	37431250	37431250	C	G	LANCL3	c.127C>G	NM_198511.2	NP_940913.1:p.(Pro43Ala)	NC_000023.10:g.37431250C>G	VUS	1 lab	2c5585c7cd
1:8418620 RERE C>T	1	8418620	8418620	C	T	RERE	c.3975G>A	NM_012102.3	NP_036234.3:p.(Pro1325=)	NC_000001.10:g.8418620C>T	(Likely) benign	1 lab	2c574ca7c6
X:601736 SHOX G>A	X	601736	601736	G	A	SHOX	c.547G>A	NM_000451.3	NP_000442.1:p.(Val183Ile)	NC_000023.10:g.601736G>A	(Likely) benign	1 lab	2c576209fa
11:118361915 KMT2A C>T	11	118361915	118361915	C	T	KMT2A	c.4701C>T	NM_001197104.1	NP_001184033.1:p.(Asn1567=)	NC_000011.9:g.118361915C>T	(Likely) benign	1 lab	2c576b0f71
9:135781183 TSC1 C>T	9	135781183	135781183	C	T	TSC1	c.1782G>A	NM_000368.4	NP_000359.1:p.(Val594=)	NC_000009.11:g.135781183C>T	(Likely) benign	1 lab	2c57dacc61
14:20502611 OR4K13 A>G	14	20502611	20502611	A	G	OR4K13	c.307T>C	NM_001004714.1	NP_001004714.1:p.(Phe103Leu)	NC_000014.8:g.20502611A>G	VUS	1 lab	2c58d8c46a
X:12938905 TLR8 T>C	X	12938905	12938905	T	C	TLR8	c.1800T>C	NM_016610.3	NP_057694.2:p.(Asn600=)	NC_000023.10:g.12938905T>C	(Likely) benign	1 lab	2c58d9788b
17:11726171 DNAH9 C>T	17	11726171	11726171	C	T	DNAH9	c.9066C>T	NM_001372.3	NP_001363.2:p.(Val3022=)	NC_000017.10:g.11726171C>T	(Likely) benign	1 lab	2c5a1e8e2f
3:3189705 TRNT1 A>G	3	3189705	3189705	A	G	TRNT1	c.1172A>G	NM_182916.3	NP_886552.3:p.(His391Arg)	NC_000003.11:g.3189705A>G	(Likely) benign	1 lab	2c5a93cc4c
17:29664476 NF1 CT>C	17	29664476	29664477	CT	C	NF1	c.6519del	NM_001042492.3	NP_001035957.1:p.(Ala2174LeufsTer26)	NC_000017.10:g.29664477del	(Likely) pathogenic	1 lab	2c5b34def6
17:18394606 LGALS9C C>T	17	18394606	18394606	C	T	LGALS9C	c.596C>T	NM_001040078.2	NP_001035167.2:p.(Thr199Met)	NC_000017.10:g.18394606C>T	(Likely) benign	1 lab	2c5b562eae
7:103155746 RELN C>T	7	103155746	103155746	C	T	RELN	c.8005G>A	NM_173054.2	NP_774959.1:p.(Val2669Ile)	NC_000007.13:g.103155746C>T	VUS	1 lab	2c5b6ecd0f
16:1507303 CLCN7 G>A	16	1507303	1507303	G	A	CLCN7	c.774C>T	NM_001287.5	NP_001278.1:p.(Ala258=)	NC_000016.9:g.1507303G>A	(Likely) benign	1 lab	2c5bebf3dc
17:4926780 KIF1C T>C	17	4926780	4926780	T	C	KIF1C	c.2646T>C	NM_006612.5	NP_006603.2:p.(Asn882=)	NC_000017.10:g.4926780T>C	(Likely) benign	1 lab	2c5cd75c79
2:242170183 HDLBP G>A	2	242170183	242170183	G	A	HDLBP	c.3465C>T	NM_005336.5	NP_005327.1:p.(Asp1155=)	NC_000002.11:g.242170183G>A	(Likely) benign	1 lab	2c5db041e2
5:140626794 PCDHB15 C>G	5	140626794	140626794	C	G	PCDHB15	c.1648C>G	NM_018935.4	NP_061758.1:p.(Leu550Val)	NC_000005.9:g.140626794C>G	(Likely) benign	1 lab	2c5dd58826
10:50018610 WDFY4 A>C	10	50018610	50018610	A	C	WDFY4	c.4874A>C	NM_020945.1	NP_065996.1:p.(Asp1625Ala)	NC_000010.10:g.50018610A>C	VUS	1 lab	2c5e0803b4
X:39932903 BCOR G>A	X	39932903	39932903	G	A	BCOR	c.1696C>T	NM_001123385.1	NP_001116857.1:p.(Arg566Cys)	NC_000023.10:g.39932903G>A	VUS	1 lab	2c5f97a81e
12:49433620 KMT2D G>A	12	49433620	49433620	G	A	KMT2D	c.7933C>T	NM_003482.4	NP_003473.3:p.(Arg2645Ter)	NC_000012.11:g.49433620G>A	(Likely) pathogenic	1 lab	e86d690102
16:75664377 KARS1 G>A	16	75664377	75664377	G	A	KARS1	c.1452C>T	NM_001130089.1	NP_001123561.1:p.(Cys484=)	NC_000016.9:g.75664377G>A	(Likely) benign	1 lab	2c613bec79
17:76528559 DNAH17 C>T	17	76528559	76528559	C	T	DNAH17	c.3114+5G>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76528559C>T	(Likely) benign	1 lab	2c61a9a579
11:6943113 OR2D3 A>G	11	6943113	6943113	A	G	OR2D3	c.881A>G	NM_001004684.1	NP_001004684.1:p.(Tyr294Cys)	NC_000011.9:g.6943113A>G	VUS	1 lab	2c62763c88
X:83128340 CYLC1 G>T	X	83128340	83128340	G	T	CYLC1	c.624G>T	NM_021118.2	NP_066941.1:p.(Lys208Asn)	NC_000023.10:g.83128340G>T	VUS	1 lab	2c63293fba
17:29541605 NF1 T>C	17	29541605	29541605	T	C	NF1	c.1527+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29541605T>C	(Likely) pathogenic	1 lab	2c644b6af3
1:172571905 SUCO T>C	1	172571905	172571905	T	C	SUCO	c.3696T>C	NM_016227.3	NP_057311.3:p.(Ser1232=)	NC_000001.10:g.172571905T>C	(Likely) benign	1 lab	2c6522c689
X:67283720 OPHN1 G>A	X	67283720	67283720	G	A	OPHN1	c.2134C>T	NM_002547.2	NP_002538.1:p.(Arg712Trp)	NC_000023.10:g.67283720G>A	VUS	1 lab	2c654cfe2e
7:21775387 DNAH11 T>C	7	21775387	21775387	T	C	DNAH11				NC_000007.13:g.21775387T>C	(Likely) benign	1 lab	2c65abe862
15:28520147 HERC2 G>A	15	28520147	28520147	G	A	HERC2	c.547C>T	NM_004667.5	NP_004658.3:p.(Arg183Trp)	NC_000015.9:g.28520147G>A	VUS	1 lab	2c65d4795c
X:7175571 STS C>T	X	7175571	7175571	C	T	STS	c.360C>T	NM_001320750.1	NP_001307679.1:p.(Thr120=)	NC_000023.10:g.7175571C>T	(Likely) benign	1 lab	2c66a554e6
18:21124483 NPC1 G>A	18	21124483	21124483	G	A	NPC1	c.1955C>T	NM_000271.5	NP_000262.2:p.(Ser652Leu)	NC_000018.9:g.21124483G>A	VUS	1 lab	e86d828dea
4:8847905 HMX1 C>T	4	8847905	8847905	C	T	HMX1	c.540G>A	NM_001306142.1	NP_001293071.1:p.(Thr180=)	NC_000004.11:g.8847905C>T	(Likely) benign	1 lab	2c66ef5825
10:123239430 FGFR2 T>C	10	123239430	123239430	T	C	FGFR2	c.2407A>G	NM_000141.4	NP_000132.3:p.(Met803Val)	NC_000010.10:g.123239430T>C	(Likely) benign	1 lab	2c69a89f8f
1:244006448 AKT3 C>G	1	244006448	244006448	C	G	AKT3	c.25G>C	NM_005465.7	NP_005456.1:p.(Glu9Gln)	NC_000001.10:g.244006448C>G	VUS	1 lab	e86da2b9eb
X:1546711 ASMTL C>G	X	1546711	1546711	C	G	ASMTL	c.813G>C	NM_004192.3	NP_004183.2:p.(Glu271Asp)	NC_000023.10:g.1546711C>G	(Likely) benign	1 lab	2c69bc32c5
2:189868535 COL3A1 T>C	2	189868535	189868535	T	C	COL3A1	c.2661+22T>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189868535T>C	(Likely) benign	1 lab	2c69e157c9
15:83527911 HOMER2 G>A	15	83527911	83527911	G	A	HOMER2	c.397C>T	NM_199330.2	NP_955362.1:p.(Arg133Cys)	NC_000015.9:g.83527911G>A	VUS	1 lab	2c6b5af47b
3:38180452 MYD88 C>T	3	38180452	38180452	C	T	MYD88	c.300C>T	NM_001172567.1	NP_001166038.1:p.(Gly100=)	NC_000003.11:g.38180452C>T	(Likely) benign	1 lab	2c6e74232e
6:10802201 MAK T>C	6	10802201	10802201	T	C	MAK	c.755A>G	NM_001242957.2	NP_001229886.1:p.(Asn252Ser)	NC_000006.11:g.10802201T>C	VUS	1 lab	2c6ee11c48
4:79308672 FRAS1 A>G	4	79308672	79308672	A	G	FRAS1	c.3792A>G	NM_025074.7	NP_079350.5:p.(Gln1264=)	NC_000004.11:g.79308672A>G	(Likely) benign	1 lab	2c706bc939
9:8527354 PTPRD C>A	9	8527354	8527354	C	A	PTPRD	c.542-1G>T	NM_002839.3	NP_002830.1:p.?	NC_000009.11:g.8527354C>A	VUS	1 lab	2c708abedc
X:102004892 GPRASP3 G>A	X	102004892	102004892	G	A	GPRASP3	c.969G>A	NM_001142524.2	NP_001135996.1:p.(Glu323=)	NC_000023.10:g.102004892G>A	VUS	1 lab	2c70c4d282
7:43909081 MRPS24 A>G	7	43909081	43909081	A	G	MRPS24	c.14T>C	NM_032014.3	NP_114403.1:p.(Val5Ala)	NC_000007.13:g.43909081A>G	(Likely) benign	1 lab	2c71a7f963
9:77400938 TRPM6 C>G	9	77400938	77400938	C	G	TRPM6	c.2771G>C	NM_017662.4	NP_060132.3:p.(Gly924Ala)	NC_000009.11:g.77400938C>G	VUS	1 lab	2c72f97264
7:51287537 COBL T>C	7	51287537	51287537	T	C	COBL	c.146A>G	NM_001287436.2	NP_001274365.1:p.(Gln49Arg)	NC_000007.13:g.51287537T>C	(Likely) benign	1 lab	2c734410f5
14:105404463 AHNAK2 G>A	14	105404463	105404463	G	A	AHNAK2	c.17325C>T	NM_138420.3	NP_612429.2:p.(Pro5775=)	NC_000014.8:g.105404463G>A	(Likely) benign	1 lab	2c785c5fd0
8:141262966 TRAPPC9 G>T	8	141262966	141262966	G	T	TRAPPC9	c.2314C>A	NM_001321646.1	NP_001308575.1:p.(Gln772Lys)	NC_000008.10:g.141262966G>T	(Likely) benign	1 lab	2c7a3870ee
16:89258846 CDH15 C>T	16	89258846	89258846	C	T	CDH15	c.1849C>T	NM_004933.2	NP_004924.1:p.(Leu617=)	NC_000016.9:g.89258846C>T	(Likely) benign	1 lab	2c7ba4846e
2:217311815 SMARCAL1 C>T	2	217311815	217311815	C	T	SMARCAL1	c.1785C>T	NM_014140.3	NP_054859.2:p.(Ile595=)	NC_000002.11:g.217311815C>T	(Likely) benign	1 lab	2c7bb51684
10:124812604 ACADSB A>G	10	124812604	124812604	A	G	ACADSB	c.1156A>G	NM_001609.3	NP_001600.1:p.(Ile386Val)	NC_000010.10:g.124812604A>G	(Likely) benign	1 lab	2c7f2e76be
17:76991268 CANT1 G>A	17	76991268	76991268	G	A	CANT1	c.667C>T	NM_138793.3	NP_620148.1:p.(Arg223Cys)	NC_000017.10:g.76991268G>A	VUS	1 lab	2c7f9414f9
10:16526474 PTER A>G	10	16526474	16526474	A	G	PTER	c.91A>G	NM_001001484.2	NP_001001484.1:p.(Met31Val)	NC_000010.10:g.16526474A>G	VUS	1 lab	2c7f9ac8f8
2:179628968 TTN C>T	2	179628968	179628968	C	T	TTN	c.10050G>A	NM_001267550.1	NP_001254479.1:p.(Pro3350=)	NC_000002.11:g.179628968C>T	(Likely) benign	1 lab	2c7fb94c6c
2:18736950 NT5C1B-RDH14 T>C	2	18736950	18736950	T	C	NT5C1B-RDH14	c.1460A>G	NM_001199103.1	NP_001186032.1:p.(Asn487Ser)	NC_000002.11:g.18736950T>C	(Likely) benign	1 lab	2c82233c0b
5:35871197 IL7R G>A	5	35871197	35871197	G	A	IL7R				NC_000005.9:g.35871197G>A	VUS	1 lab	2c8239ee10
3:195787102 TFRC C>T	3	195787102	195787102	C	T	TFRC	c.1485G>A	NM_003234.3	NP_003225.2:p.(Lys495=)	NC_000003.11:g.195787102C>T	(Likely) benign	1 lab	2c860d9ac1
13:95230367 TGDS TACA>T	13	95230367	95230373	TACA	T	TGDS	c.714_716del	NM_014305.4	NP_055120.1:p.(Val239del)	NC_000013.10:g.95230371_95230373del	VUS	1 lab	2c8619fbfd
3:164735362 SI C>T	3	164735362	164735362	C	T	SI	c.3733G>A	NM_001041.3	NP_001032.2:p.(Ala1245Thr)	NC_000003.11:g.164735362C>T	(Likely) benign	1 lab	2c872ca35b
16:22336537 POLR3E T>C	16	22336537	22336537	T	C	POLR3E	c.1298T>C	NM_018119.4	NP_060589.1:p.(Val433Ala)	NC_000016.9:g.22336537T>C	VUS	1 lab	2c88d4b09b
3:45965232 FYCO1 T>G	3	45965232	45965232	T	G	FYCO1	c.4277A>C	NM_024513.3	NP_078789.2:p.(Asn1426Thr)	NC_000003.11:g.45965232T>G	VUS	1 lab	2c89e5fc54
14:35465982 SRP54 A>G	14	35465982	35465982	A	G	SRP54	c.67A>G	NM_003136.4	NP_003127.1:p.(Ile23Val)	NC_000014.8:g.35465982A>G	VUS	1 lab	e86e240b5d
7:23339215 MALSU1 T>C	7	23339215	23339215	T	C	MALSU1	c.244T>C	NM_138446.1	NP_612455.1:p.(Ser82Pro)	NC_000007.13:g.23339215T>C	(Likely) benign	1 lab	2c8a290577
15:89876861 POLG C>T	15	89876861	89876861	C	T	POLG	c.125G>A	NM_002693.2	NP_002684.1:p.(Arg42Gln)	NC_000015.9:g.89876861C>T	(Likely) benign	1 lab	2c8b651b8d
1:156142649 SEMA4A G>C	1	156142649	156142649	G	C	SEMA4A	c.1167G>C	NM_001193300.1	NP_001180229.1:p.(Leu389=)	NC_000001.10:g.156142649G>C	(Likely) benign	1 lab	2c8c068949
15:62264952 VPS13C C>T	15	62264952	62264952	C	T	VPS13C	c.2629G>A	NM_001018088.2	NP_001018098.1:p.(Glu877Lys)	NC_000015.9:g.62264952C>T	(Likely) benign	1 lab	2c8d042fd5
19:3736256 TJP3 C>T	19	3736256	3736256	C	T	TJP3	c.1221C>T	NM_001267560.2	NP_001254489.1:p.(Ser407=)	NC_000019.9:g.3736256C>T	(Likely) benign	1 lab	2c8d0a87b9
X:48340054 FTSJ1 C>T	X	48340054	48340054	C	T	FTSJ1	c.606C>T	NM_177439.2	NP_803188.1:p.(Pro202=)	NC_000023.10:g.48340054C>T	(Likely) benign	1 lab	2c8d3a0e0f
10:85978860 CDHR1 A>G	10	85978860	85978860	A	G	CDHR1	c.2066A>G	NM_001171971.2	NP_001165442.1:p.(Asn689Ser)	NC_000010.10:g.85978860A>G	(Likely) benign	1 lab	2c8e442219
1:240371906 FMN2 C>T	1	240371906	240371906	C	T	FMN2	c.3806C>T	NM_001305424.1	NP_001292353.1:p.(Pro1269Leu)	NC_000001.10:g.240371906C>T	(Likely) benign	1 lab	2c8e6f5d12
12:103981266 STAB2 A>G	12	103981266	103981266	A	G	STAB2	c.12A>G	NM_017564.10	NP_060034.9:p.(Gln4=)	NC_000012.11:g.103981266A>G	VUS	1 lab	2c8e7bcbc4
1:46658870 POMGNT1 G>A	1	46658870	46658870	G	A	POMGNT1	c.1128C>T	NM_001243766.1	NP_001230695.1:p.(Leu376=)	NC_000001.10:g.46658870G>A	(Likely) benign	1 lab	2c912a01ec
4:79387405 FRAS1 G>T	4	79387405	79387405	G	T	FRAS1	c.7073G>T	NM_025074.7	NP_079350.5:p.(Gly2358Val)	NC_000004.11:g.79387405G>T	VUS	1 lab	2c931f4d8b
8:140715074 KCNK9 G>A	8	140715074	140715074	G	A	KCNK9	c.162C>T	NM_001282534.1	NP_001269463.1:p.(Ile54=)	NC_000008.10:g.140715074G>A	(Likely) benign	1 lab	2c93bcc288
16:77468530 ADAMTS18 G>T	16	77468530	77468530	G	T	ADAMTS18	c.63C>A	NM_199355.3	NP_955387.1:p.(Gly21=)	NC_000016.9:g.77468530G>T	(Likely) benign	1 lab	2c9477cfd9
3:10379965 ATP2B2 C>T	3	10379965	10379965	C	T	ATP2B2	c.3180G>A	NM_001330611.2	NP_001317540.1:p.(Pro1060=)	NC_000003.11:g.10379965C>T	(Likely) benign	1 lab	2c947d363b
1:61553979 NFIA T>G	1	61553979	61553979	T	G	NFIA	c.186T>G	NM_005595.4	NP_005586.1:p.(Ser62Arg)	NC_000001.10:g.61553979T>G	VUS	1 lab	2c96145d45
1:181620575 MISSING C>T	1	181620575	181620575	C	T	MISSING				NC_000001.10:g.181620575C>T	(Likely) benign	1 lab	2c9801cdf2
7:48317987 ABCA13 C>A	7	48317987	48317987	C	A	ABCA13	c.7196C>A	NM_152701.4	NP_689914.3:p.(Ser2399Tyr)	NC_000007.13:g.48317987C>A	VUS	1 lab	2c98cd391e
8:94767256 TMEM67 C>T	8	94767256	94767256	C	T	TMEM67	c.114C>T	NM_153704.5	NP_714915.3:p.(Thr38=)	NC_000008.10:g.94767256C>T	(Likely) benign	1 lab	2c9906fa13
X:129208683 ELF4 T>C	X	129208683	129208683	T	C	ELF4	c.120A>G	NM_001421.3	NP_001412.1:p.(Val40=)	NC_000023.10:g.129208683T>C	(Likely) benign	1 lab	2c9a9204c0
2:108454784 RGPD4 A>G	2	108454784	108454784	A	G	RGPD4	c.212A>G	NM_182588.2	NP_872394.2:p.(Glu71Gly)	NC_000002.11:g.108454784A>G	(Likely) benign	1 lab	2c9f8bd251
1:12343686 VPS13D G>A	1	12343686	12343686	G	A	VPS13D	c.5527G>A	NM_015378.4	NP_056193.2:p.(Ala1843Thr)	NC_000001.10:g.12343686G>A	VUS	1 lab	2ca271aa18
2:220419217 OBSL1 C>T	2	220419217	220419217	C	T	OBSL1	c.4855G>A	NM_015311.2	NP_056126.1:p.(Ala1619Thr)	NC_000002.11:g.220419217C>T	(Likely) benign	1 lab	2ca33cfcc5
16:51176004 SALL1 G>A	16	51176004	51176004	G	A	SALL1	c.129C>T	NM_002968.2	NP_002959.2:p.(His43=)	NC_000016.9:g.51176004G>A	(Likely) benign	1 lab	2ca35685c7
2:32312595 SPAST G>T	2	32312595	32312595	G	T	SPAST	c.450G>T	NM_014946.4	NP_055761.2:p.(Lys150Asn)	NC_000002.11:g.32312595G>T	VUS	1 lab	e871b06127
16:69681012 NFAT5 C>G	16	69681012	69681012	C	G	NFAT5	c.53C>G	NM_138714.4	NP_619728.2:p.(Ser18Cys)	NC_000016.9:g.69681012C>G	VUS	1 lab	e872b8f708
X:154348369 BRCC3 C>G	X	154348369	154348369	C	G	BRCC3	c.895C>G	NM_024332.3	NP_077308.1:p.(Gln299Glu)	NC_000023.10:g.154348369C>G	VUS	1 lab	2ca5aea263
11:6239881 FHIP1B G>A	11	6239881	6239881	G	A	FHIP1B	c.1384C>T	NM_032127.3	NP_115503.2:p.(Arg462Trp)	NC_000011.9:g.6239881G>A	(Likely) benign	1 lab	2ca65850e5
19:55748036 PPP6R1 G>A	19	55748036	55748036	G	A	PPP6R1	c.1963C>T	NM_014931.4	NP_055746.3:p.(Arg655Cys)	NC_000019.9:g.55748036G>A	(Likely) benign	1 lab	2ca670cecb
7:148768007 ZNF786 C>A	7	148768007	148768007	C	A	ZNF786	c.1857G>T	NM_152411.3	NP_689624.2:p.(Arg619Ser)	NC_000007.13:g.148768007C>A	VUS	1 lab	2ca79b0b7e
7:70255370 AUTS2 G>A	7	70255370	70255370	G	A	AUTS2				NC_000007.13:g.70255370G>A	(Likely) benign	1 lab	2ca834b88e
6:31934813 SKIC2 G>C	6	31934813	31934813	G	C	SKIC2	c.2373G>C	NM_006929.4	NP_008860.4:p.(Lys791Asn)	NC_000006.11:g.31934813G>C	(Likely) benign	1 lab	2ca872cf29
6:47647856 ADGRF2P T>C	6	47647856	47647856	T	C	ADGRF2P	c.317T>C	NM_153839.6	NP_722581.4:p.(Val106Ala)	NC_000006.11:g.47647856T>C	VUS	1 lab	2ca954fb3b
1:223116305 DISP1 G>T	1	223116305	223116305	G	T	DISP1	c.140G>T	NM_032890.5	NP_116279.2:p.(Arg47Ile)	NC_000001.10:g.223116305G>T	VUS	1 lab	e87351bb9f
16:84067015 SLC38A8 G>A	16	84067015	84067015	G	A	SLC38A8	c.448C>T	NM_001080442.2	NP_001073911.1:p.(Arg150Cys)	NC_000016.9:g.84067015G>A	(Likely) benign	1 lab	2cad63899b
9:123724965 C5 G>A	9	123724965	123724965	G	A	C5	c.4506C>T	NM_001317163.1	NP_001304092.1:p.(Tyr1502=)	NC_000009.11:g.123724965G>A	(Likely) benign	1 lab	2cae569217
15:25584289 UBE3A G>A	15	25584289	25584289	G	A	UBE3A	c.2554C>T	NM_001354543.1	NP_001341472.1:p.(Leu852=)	NC_000015.9:g.25584289G>A	(Likely) benign	1 lab	2caeb6f91a
14:102466473 DYNC1H1 C>T	14	102466473	102466473	C	T	DYNC1H1	c.3952C>T	NM_001376.4	NP_001367.2:p.(Arg1318Cys)	NC_000014.8:g.102466473C>T	VUS	1 lab	2cafb6840d
6:33133539 COL11A2 G>A	6	33133539	33133539	G	A	COL11A2	c.4537C>T	NM_080680.2	NP_542411.2:p.(Arg1513Trp)	NC_000006.11:g.33133539G>A	VUS	1 lab	2cafc7bf09
22:38528856 PLA2G6 C>T	22	38528856	38528856	C	T	PLA2G6	c.1059G>A	NM_003560.2	NP_003551.2:p.(Pro353=)	NC_000022.10:g.38528856C>T	(Likely) benign	1 lab	2cb0828b7b
7:5770394 RNF216 G>A	7	5770394	5770394	G	A	RNF216	c.1176C>T	NM_207111.3	NP_996994.1:p.(Ile392=)	NC_000007.13:g.5770394G>A	(Likely) benign	1 lab	2cb221b484
22:32889089 FBXO7 T>G	22	32889089	32889089	T	G	FBXO7	c.968-3T>G	NM_012179.3	NP_036311.3:p.?	NC_000022.10:g.32889089T>G	VUS	1 lab	2cb2a8d364
8:100155250 VPS13B G>A	8	100155250	100155250	G	A	VPS13B	c.1700G>A	NM_017890.4	NP_060360.3:p.(Gly567Glu)	NC_000008.10:g.100155250G>A	VUS	1 lab	2cb4191bd1
5:131552947 P4HA2 G>A	5	131552947	131552947	G	A	P4HA2				NC_000005.9:g.131552947G>A	VUS	1 lab	2cb411c3cb
X:24383368 SUPT20HL1 T>C	X	24383368	24383368	T	C	SUPT20HL1	c.2569T>C	NM_001136234.2	NP_001129706.2:p.(Leu857=)	NC_000023.10:g.24383368T>C	(Likely) benign	1 lab	2cb42a05ce
17:29533304 NF1 C>A	17	29533304	29533304	C	A	NF1	c.1307C>A	NM_000267.3	NP_000258.1:p.(Ser436Ter)	NC_000017.10:g.29533304C>A	(Likely) pathogenic	1 lab	2cb46f2f35
17:34072629 GAS2L2 G>T	17	34072629	34072629	G	T	GAS2L2	c.1887C>A	NM_139285.3	NP_644814.1:p.(Val629=)	NC_000017.10:g.34072629G>T	(Likely) benign	1 lab	2cb6f2cbd1
16:67688564 CARMIL2 A>T	16	67688564	67688564	A	T	CARMIL2	c.3551A>T	NM_001013838.2	NP_001013860.1:p.(Glu1184Val)	NC_000016.9:g.67688564A>T	VUS	1 lab	2cb76255bf
13:40362472 COG6 G>A	13	40362472	40362472	G	A	COG6	c.1827G>A	NM_001145079.1	NP_001138551.1:p.(Lys609=)	NC_000013.10:g.40362472G>A	(Likely) benign	1 lab	2cbac8d21b
9:71820171 TJP2 C>G	9	71820171	71820171	C	G	TJP2	c.94C>G	NM_001170416.1	NP_001163887.1:p.(Pro32Ala)	NC_000009.11:g.71820171C>G	(Likely) benign	1 lab	2cbae3fb2e
19:51890535 LIM2 T>C	19	51890535	51890535	T	C	LIM2	c.163A>G	NM_030657.3	NP_085915.2:p.(Thr55Ala)	NC_000019.9:g.51890535T>C	VUS	1 lab	2cbb473f5d
X:107404952 COL4A6 T>C	X	107404952	107404952	T	C	COL4A6	c.4281A>G	NM_001287758.1	NP_001274687.1:p.(Leu1427=)	NC_000023.10:g.107404952T>C	VUS	1 lab	2cbce74fb1
7:42187878 GLI3 C>T	7	42187878	42187878	C	T	GLI3	c.314G>A	NM_000168.5	NP_000159.3:p.(Arg105His)	NC_000007.13:g.42187878C>T	VUS	1 lab	2cbde6bb40
7:21641236 DNAH11 G>C	7	21641236	21641236	G	C	DNAH11				NC_000007.13:g.21641236G>C	VUS	1 lab	2cbf7f1240
21:34805079 IFNGR2 G>A	21	34805079	34805079	G	A	IFNGR2	c.837G>A	NM_001329128.1	NP_001316057.1:p.(Ser279=)	NC_000021.8:g.34805079G>A	(Likely) benign	1 lab	2cbfd3b13d
17:3937565 ZZEF1 C>T	17	3937565	3937565	C	T	ZZEF1	c.6328G>A	NM_015113.4	NP_055928.3:p.(Asp2110Asn)	NC_000017.10:g.3937565C>T	VUS	1 lab	2cc01d8018
6:56480426 DST T>G	6	56480426	56480426	T	G	DST	c.7839A>C	NM_001723.5	NP_001714.1:p.(Thr2613=)	NC_000006.11:g.56480426T>G	(Likely) benign	1 lab	2cc2064c5d
17:40314292 KCNH4 C>T	17	40314292	40314292	C	T	KCNH4	c.2632G>A	NM_012285.3	NP_036417.1:p.(Glu878Lys)	NC_000017.10:g.40314292C>T	(Likely) benign	1 lab	2cc23312ce
8:43052143 HGSNAT G>A	8	43052143	43052143	G	A	HGSNAT	c.1517G>A	NM_152419.2	NP_689632.2:p.(Arg506Gln)	NC_000008.10:g.43052143G>A	VUS	1 lab	2cc374e6b8
8:61778367 CHD7 G>A	8	61778367	61778367	G	A	CHD7				NC_000008.10:g.61778367G>A	VUS	1 lab	2cc4a8bbe0
2:238243284 COL6A3 C>T	2	238243284	238243284	C	T	COL6A3	c.9214G>A	NM_004369.3	NP_004360.2:p.(Gly3072Arg)	NC_000002.11:g.238243284C>T	VUS	1 lab	2cc4c46332
22:50660975 TUBGCP6 G>A	22	50660975	50660975	G	A	TUBGCP6	c.2317C>T	NM_020461.3	NP_065194.2:p.(Arg773Cys)	NC_000022.10:g.50660975G>A	VUS	1 lab	2cc5381777
X:66905930 AR G>A	X	66905930	66905930	G	A	AR	c.1847G>A	NM_000044.4	NP_000035.2:p.(Arg616His)	NC_000023.10:g.66905930G>A	(Likely) pathogenic	1 lab	2cc542de0c
8:6302112 MCPH1 A>G	8	6302112	6302112	A	G	MCPH1	c.869A>G	NM_024596.4	NP_078872.2:p.(Lys290Arg)	NC_000008.10:g.6302112A>G	VUS	1 lab	2cc6db22ce
19:2251178 AMH G>A	19	2251178	2251178	G	A	AMH	c.905G>A	NM_000479.4	NP_000470.2:p.(Arg302Gln)	NC_000019.9:g.2251178G>A	(Likely) pathogenic	1 lab	2cc6ed7225
8:133923730 TG C>T	8	133923730	133923730	C	T	TG	c.4111C>T	NM_003235.4	NP_003226.4:p.(Arg1371Trp)	NC_000008.10:g.133923730C>T	VUS	1 lab	2cc72a9184
12:53217996 KRT79 A>G	12	53217996	53217996	A	G	KRT79	c.1006T>C	NM_175834.2	NP_787028.1:p.(Trp336Arg)	NC_000012.11:g.53217996A>G	VUS	1 lab	2cc76df7ea
11:36595149 RAG1 G>A	11	36595149	36595149	G	A	RAG1	c.295G>A	NM_000448.2	NP_000439.1:p.(Gly99Ser)	NC_000011.9:g.36595149G>A	(Likely) benign	1 lab	2cc8c1189b
1:207139122 FCAMR C>T	1	207139122	207139122	C	T	FCAMR	c.251G>A	NM_001170631.2	NP_001164102.1:p.(Arg84Gln)	NC_000001.10:g.207139122C>T	(Likely) benign	1 lab	2ccae1227c
X:107320342 VSIG1 C>A	X	107320342	107320342	C	A	VSIG1	c.1003C>A	NM_001170553.1	NP_001164024.1:p.(Leu335Ile)	NC_000023.10:g.107320342C>A	VUS	1 lab	2ccf794f2c
2:233388557 PRSS56 C>T	2	233388557	233388557	C	T	PRSS56	c.1088C>T	NM_001195129.1	NP_001182058.1:p.(Ala363Val)	NC_000002.11:g.233388557C>T	(Likely) benign	1 lab	2ccfbfa9c6
11:36615088 RAG2 C>T	11	36615088	36615088	C	T	RAG2	c.631G>A	NM_000536.4	NP_000527.2:p.(Ala211Thr)	NC_000011.9:g.36615088C>T	VUS	1 lab	e87d2dbc8d
1:197093428 ASPM C>A	1	197093428	197093428	C	A	ASPM	c.3202G>T	NM_018136.4	NP_060606.3:p.(Glu1068Ter)	NC_000001.10:g.197093428C>A	(Likely) pathogenic	1 lab	2cd195271b
15:51293225 AP4E1 C>G	15	51293225	51293225	C	G	AP4E1	c.2873C>G	NM_001252127.1	NP_001239056.1:p.(Pro958Arg)	NC_000015.9:g.51293225C>G	VUS	1 lab	2cd1ad2057
3:38622582 SCN5A C>G	3	38622582	38622582	C	G	SCN5A	c.3068G>C	NM_198056.3	NP_932173.1:p.(Arg1023Pro)	NC_000003.11:g.38622582C>G	VUS	1 lab	e880de57d8
2:179427165 TTN A>T	2	179427165	179427165	A	T	TTN	c.83694T>A	NM_001267550.2	NP_001254479.2:p.(Tyr27898Ter)	NC_000002.11:g.179427165A>T	(Likely) pathogenic	1 lab	e883974807
16:2098633 TSC2 G>A	16	2098633	2098633	G	A	TSC2	c.17G>A	NM_000548.3	NP_000539.2:p.(Ser6Asn)	NC_000016.9:g.2098633G>A	VUS	1 lab	2cd3c819dd
16:15844140 MYH11 G>A	16	15844140	15844140	G	A	MYH11	c.1934C>T	NM_001040113.1	NP_001035202.1:p.(Ser645Leu)	NC_000016.9:g.15844140G>A	VUS	1 lab	2cd3ddbff4
7:47832346 PKD1L1 T>C	7	47832346	47832346	T	C	PKD1L1	c.8405A>G	NM_138295.4	NP_612152.1:p.(Lys2802Arg)	NC_000007.13:g.47832346T>C	(Likely) benign	1 lab	2cd52712b9
12:58023687 B4GALNT1 C>G	12	58023687	58023687	C	G	B4GALNT1	c.960G>C	NM_001276469.1	NP_001263398.1:p.(Val320=)	NC_000012.11:g.58023687C>G	(Likely) benign	1 lab	2cd637a7b4
19:17895722 FCHO1 G>A	19	17895722	17895722	G	A	FCHO1	c.2415G>A	NM_001161357.1	NP_001154829.1:p.(Pro805=)	NC_000019.9:g.17895722G>A	(Likely) benign	1 lab	2cd6ef28bc
16:50744909 NOD2 A>T	16	50744909	50744909	A	T	NOD2	c.1087A>T	NM_022162.1	NP_071445.1:p.(Ile363Phe)	NC_000016.9:g.50744909A>T	VUS	1 lab	2cd78d743e
1:155207999 GBA1 C>T	1	155207999	155207999	C	T	GBA1	c.687G>A	NM_001005741.2	NP_001005741.1:p.(Ala229=)	NC_000001.10:g.155207999C>T	(Likely) benign	1 lab	2cd89a47bd
4:6611755 MAN2B2 A>G	4	6611755	6611755	A	G	MAN2B2	c.2237A>G	NM_015274.2	NP_056089.1:p.(Tyr746Cys)	NC_000004.11:g.6611755A>G	(Likely) benign	1 lab	2cd8e4ad40
17:8139483 CTC1 C>T	17	8139483	8139483	C	T	CTC1	c.970G>A	NM_025099.6	NP_079375.3:p.(Gly324Arg)	NC_000017.10:g.8139483C>T	(Likely) benign	1 lab	2cda00dfc1
16:28949128 CD19 C>T	16	28949128	28949128	C	T	CD19	c.1468C>T	NM_001178098.1	NP_001171569.1:p.(Arg490Trp)	NC_000016.9:g.28949128C>T	VUS	1 lab	2cdc18148f
15:55612577 PIGB T>C	15	55612577	55612577	T	C	PIGB	c.268T>C	NM_004855.5	NP_004846.4:p.(Ser90Pro)	NC_000015.9:g.55612577T>C	VUS	1 lab	2cde53c5a7
16:88505575 ZNF469 A>C	16	88505575	88505575	A	C	ZNF469				NC_000016.9:g.88505575A>C	(Likely) benign	1 lab	2cdf6c1778
9:135983564 RALGDS C>T	9	135983564	135983564	C	T	RALGDS	c.1008G>A	NM_006266.4	NP_006257.1:p.(Glu336=)	NC_000009.11:g.135983564C>T	(Likely) benign	1 lab	2ce170a5c2
3:129177438 IFT122 T>C	3	129177438	129177438	T	C	IFT122	c.194-4T>C	NM_052985.3	NP_443711.2:p.?	NC_000003.11:g.129177438T>C	(Likely) benign	1 lab	2ce277dd5c
10:96322608 HELLS A>G	10	96322608	96322608	A	G	HELLS	c.410A>G	NM_001289067.1	NP_001275996.1:p.(Asn137Ser)	NC_000010.10:g.96322608A>G	(Likely) benign	1 lab	2ce3584ee2
2:217002901 XRCC5 C>T	2	217002901	217002901	C	T	XRCC5	c.1341C>T	NM_021141.3	NP_066964.1:p.(Thr447=)	NC_000002.11:g.217002901C>T	(Likely) benign	1 lab	2ce40bc200
5:56184123 MAP3K1 C>T	5	56184123	56184123	C	T	MAP3K1	c.4328C>T	NM_005921.1	NP_005912.1:p.(Ala1443Val)	NC_000005.9:g.56184123C>T	(Likely) benign	1 lab	2ce5b67e7a
7:116403282 MET T>C	7	116403282	116403282	T	C	MET	c.2597T>C	NM_001127500.1	NP_001120972.1:p.(Val866Ala)	NC_000007.13:g.116403282T>C	VUS	1 lab	2ce6b698f9
19:53855585 ZNF845 T>C	19	53855585	53855585	T	C	ZNF845	c.1657T>C	NM_138374.2	NP_612383.1:p.(Cys553Arg)	NC_000019.9:g.53855585T>C	VUS	1 lab	2ce75c8783
20:33586598 MYH7B A>C	20	33586598	33586598	A	C	MYH7B	c.4196A>C	NM_020884.4	NP_065935.3:p.(Glu1399Ala)	NC_000020.10:g.33586598A>C	VUS	1 lab	2ce8281360
9:137591847 COL5A1 G>C	9	137591847	137591847	G	C	COL5A1	c.370G>C	NM_000093.4	NP_000084.3:p.(Gly124Arg)	NC_000009.11:g.137591847G>C	VUS	1 lab	2ce83502d5
20:8626822 PLCB1 A>T	20	8626822	8626822	A	T	PLCB1	c.458A>T	NM_182734.2	NP_877398.1:p.(Glu153Val)	NC_000020.10:g.8626822A>T	(Likely) benign	1 lab	2ce8be98a4
19:18378235 IQCN C>T	19	18378235	18378235	C	T	IQCN	c.115G>A	NM_001145304.2	NP_001138776.1:p.(Ala39Thr)	NC_000019.9:g.18378235C>T	(Likely) benign	1 lab	2ce8fbe403
11:120983864 TECTA G>A	11	120983864	120983864	G	A	TECTA	c.570G>A	NM_005422.2	NP_005413.2:p.(Thr190=)	NC_000011.9:g.120983864G>A	(Likely) benign	1 lab	2cea4e88e5
15:86266554 AKAP13 A>G	15	86266554	86266554	A	G	AKAP13	c.6757+3A>G	NM_006738.5	NP_006729.4:p.?	NC_000015.9:g.86266554A>G	(Likely) benign	1 lab	2cea7ce872
10:112404365 RBM20 G>C	10	112404365	112404365	G	C	RBM20	c.153G>C	NM_001134363.1	NP_001127835.1:p.(Pro51=)	NC_000010.10:g.112404365G>C	(Likely) benign	1 lab	2cea8edae0
14:50666520 SOS2 T>G	14	50666520	50666520	T	G	SOS2	c.399A>C	NM_006939.3	NP_008870.2:p.(Val133=)	NC_000014.8:g.50666520T>G	(Likely) benign	1 lab	2ceae08b93
9:135798810 TSC1 G>A	9	135798810	135798810	G	A	TSC1	c.433C>T	NM_000368.4	NP_000359.1:p.(Gln145Ter)	NC_000009.11:g.135798810G>A	(Likely) pathogenic	1 lab	2ceb6e787b
12:14940365 WBP11 A>AG	12	14940365	14940372	A	AG	WBP11	c.1559dup	NM_016312.3	NP_057396.1:p.(Gly521TrpfsTer28)	NC_000012.11:g.14940372dup	VUS	1 lab	2cec347866
X:140985320 MAGEC3 G>T	X	140985320	140985320	G	T	MAGEC3	c.882G>T	NM_177456.2	NP_803251.1:p.(Leu294=)	NC_000023.10:g.140985320G>T	(Likely) benign	1 lab	2ceed63046
19:54403952 PRKCG C>A	19	54403952	54403952	C	A	PRKCG	c.1524C>A	NM_002739.3	NP_002730.1:p.(Pro508=)	NC_000019.9:g.54403952C>A	(Likely) benign	1 lab	2cf0083938
6:146755560 GRM1 T>C	6	146755560	146755560	T	C	GRM1	c.3213T>C	NM_001278064.1	NP_001264993.1:p.(Pro1071=)	NC_000006.11:g.146755560T>C	(Likely) benign	1 lab	2cf2334018
6:74325031 SLC17A5 C>T	6	74325031	74325031	C	T	SLC17A5	c.1111+7G>A	NM_012434.4	NP_036566.1:p.?	NC_000006.11:g.74325031C>T	(Likely) benign	1 lab	2cf266fd58
7:44805810 ZMIZ2 A>C	7	44805810	44805810	A	C	ZMIZ2	c.2290A>C	NM_031449.4	NP_113637.3:p.(Thr764Pro)	NC_000007.13:g.44805810A>C	(Likely) benign	1 lab	2cf61b06e0
16:79633515 MAF G>T	16	79633515	79633515	G	T	MAF	c.285C>A	NM_001031804.2	NP_001026974.1:p.(Thr95=)	NC_000016.9:g.79633515G>T	(Likely) benign	1 lab	2cf73a7e36
1:39816547 MACF1 C>G	1	39816547	39816547	C	G	MACF1	c.4870C>G	NM_012090.5	NP_036222.3:p.(Leu1624Val)	NC_000001.10:g.39816547C>G	(Likely) benign	1 lab	2cf7ae21af
10:79781696 POLR3A C>T	10	79781696	79781696	C	T	POLR3A	c.970G>A	NM_007055.3	NP_008986.2:p.(Glu324Lys)	NC_000010.10:g.79781696C>T	VUS	1 lab	2cf83ef16a
22:33673118 LARGE1 G>A	22	33673118	33673118	G	A	LARGE1	c.2001C>T	NM_004737.5	NP_004728.1:p.(Cys667=)	NC_000022.10:g.33673118G>A	(Likely) benign	1 lab	2cf97a7990
X:21674537 KLHL34 C>T	X	21674537	21674537	C	T	KLHL34	c.1370G>A	NM_153270.2	NP_695002.1:p.(Gly457Glu)	NC_000023.10:g.21674537C>T	(Likely) benign	1 lab	2cfa58e4fc
9:5069051 JAK2 T>C	9	5069051	5069051	T	C	JAK2	c.1356T>C	NM_001322194.1	NP_001309123.1:p.(Cys452=)	NC_000009.11:g.5069051T>C	(Likely) benign	1 lab	2cfb419f56
12:53073818 KRT1 A>C	12	53073818	53073818	A	C	KRT1	c.315T>G	NM_006121.3	NP_006112.3:p.(Gly105=)	NC_000012.11:g.53073818A>C	(Likely) benign	1 lab	2cfc662dfb
2:39102927 DHX57 A>T	2	39102927	39102927	A	T	DHX57	c.-7+2T>A	NM_198963.3	NP_945314.1:p.?	NC_000002.11:g.39102927A>T	VUS	1 lab	2cfd01c7e9
X:149814177 MTM1 G>C	X	149814177	149814177	G	C	MTM1	c.700G>C	NM_000252.2	NP_000243.1:p.(Glu234Gln)	NC_000023.10:g.149814177G>C	(Likely) benign	1 lab	2cfdd2824a
17:29653045 NF1 CTG>C	17	29653045	29653048	CTG	C	NF1	c.5045_5046del	NM_001042492.3	NP_001035957.1:p.(Cys1682Ter)	NC_000017.10:g.29653047_29653048del	(Likely) pathogenic	1 lab	2cfe3ea6a6
9:135781288 TSC1 G>A	9	135781288	135781288	G	A	TSC1	c.1677C>T	NM_000368.4	NP_000359.1:p.(Cys559=)	NC_000009.11:g.135781288G>A	(Likely) benign	1 lab	2cfe53f2e7
9:87342799 NTRK2 A>T	9	87342799	87342799	A	T	NTRK2	c.1084A>T	NM_006180.4	NP_006171.2:p.(Ile362Leu)	NC_000009.11:g.87342799A>T	(Likely) benign	1 lab	2d00395992
16:2134308 TSC2 T>A	16	2134308	2134308	T	A	TSC2	c.4085T>A	NM_000548.3	NP_000539.2:p.(Val1362Asp)	NC_000016.9:g.2134308T>A	(Likely) benign	1 lab	2d00d4c0db
3:127339710 MCM2 G>A	3	127339710	127339710	G	A	MCM2	c.2435G>A	NM_004526.3	NP_004517.2:p.(Arg812His)	NC_000003.11:g.127339710G>A	VUS	1 lab	2d0185c6d1
19:36585017 WDR62 T>G	19	36585017	36585017	T	G	WDR62	c.2418T>G	NM_001083961.1	NP_001077430.1:p.(Cys806Trp)	NC_000019.9:g.36585017T>G	VUS	1 lab	2d03a7eb7c
9:13113056 MPDZ G>A	9	13113056	13113056	G	A	MPDZ	c.5558-3C>T	NM_001330637.1	NP_001317566.1:p.?	NC_000009.11:g.13113056G>A	(Likely) benign	1 lab	2d051f03cd
17:78091573 GAA G>A	17	78091573	78091573	G	A	GAA	c.2481+25G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78091573G>A	(Likely) benign	1 lab	2d059223af
2:26703827 OTOF G>A	2	26703827	26703827	G	A	OTOF	c.1630C>T	NM_194248.2	NP_919224.1:p.(Arg544Cys)	NC_000002.11:g.26703827G>A	VUS	1 lab	2d083b8d1c
22:18909835 PRODH C>T	22	18909835	18909835	C	T	PRODH	c.929+3G>A	NM_016335.4	NP_057419.4:p.?	NC_000022.10:g.18909835C>T	(Likely) benign	1 lab	2d0a992b86
16:2139950 PKD1 G>A	16	2139950	2139950	G	A	PKD1	c.12690C>T	NM_001009944.2	NP_001009944.2:p.(Asn4230=)	NC_000016.9:g.2139950G>A	(Likely) benign	1 lab	2d0b9b2eed
2:179399187 TTN C>T	2	179399187	179399187	C	T	TTN	c.102155G>A	NM_001267550.1	NP_001254479.1:p.(Arg34052Gln)	NC_000002.11:g.179399187C>T	VUS	1 lab	2d0bfe1864
15:44965529 PATL2 C>T	15	44965529	44965529	C	T	PATL2	c.350G>A	NM_001145112.1	NP_001138584.1:p.(Ser117Asn)	NC_000015.9:g.44965529C>T	(Likely) benign	1 lab	2d0c8195b3
7:154595608 DPP6 C>T	7	154595608	154595608	C	T	DPP6	c.1442C>T	NM_130797.4	NP_570629.2:p.(Thr481Ile)	NC_000007.13:g.154595608C>T	VUS	1 lab	2d0de24d9e
5:127653916 FBN2 C>T	5	127653916	127653916	C	T	FBN2	c.4642G>A	NM_001999.3	NP_001990.2:p.(Val1548Ile)	NC_000005.9:g.127653916C>T	VUS	1 lab	2d0e82db9a
2:220432090 OBSL1 C>T	2	220432090	220432090	C	T	OBSL1	c.1742G>A	NM_015311.2	NP_056126.1:p.(Cys581Tyr)	NC_000002.11:g.220432090C>T	VUS	1 lab	2d0ea88cb6
10:48383885 RBP3 T>A	10	48383885	48383885	T	A	RBP3	c.3347A>T	NM_002900.2	NP_002891.1:p.(Asp1116Val)	NC_000010.10:g.48383885T>A	VUS	1 lab	2d0f015834
2:179418146 TTN T>A	2	179418146	179418146	T	A	TTN	c.89504-23A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179418146T>A	(Likely) benign	1 lab	2d0f725f90
10:79769647 POLR3A C>T	10	79769647	79769647	C	T	POLR3A	c.1745G>A	NM_007055.3	NP_008986.2:p.(Arg582His)	NC_000010.10:g.79769647C>T	(Likely) benign	1 lab	2d1038dc39
X:119293331 RHOXF2 C>T	X	119293331	119293331	C	T	RHOXF2	c.490C>T	NM_032498.2	NP_115887.1:p.(Arg164Ter)	NC_000023.10:g.119293331C>T	VUS	1 lab	2d111f382c
1:207925595 CD46 C>G	1	207925595	207925595	C	G	CD46	c.38C>G	NM_002389.4	NP_002380.3:p.(Ser13Cys)	NC_000001.10:g.207925595C>G	VUS	1 lab	2d1241be37
19:41355849 CYP2A6 A>G	19	41355849	41355849	A	G	CYP2A6	c.217T>C	NM_000762.5	NP_000753.3:p.(Leu73=)	NC_000019.9:g.41355849A>G	(Likely) benign	1 lab	2d12cc20fc
6:70970397 COL9A1 C>G	6	70970397	70970397	C	G	COL9A1	c.1412G>C	NM_001851.4	NP_001842.3:p.(Arg471Pro)	NC_000006.11:g.70970397C>G	VUS	1 lab	2d14e2f9ef
1:39917892 MACF1 A>C	1	39917892	39917892	A	C	MACF1	c.14306A>C	NM_012090.5	NP_036222.3:p.(Glu4769Ala)	NC_000001.10:g.39917892A>C	VUS	1 lab	2d14fc7b19
21:45707421 AIRE C>T	21	45707421	45707421	C	T	AIRE				NC_000021.8:g.45707421C>T	VUS	1 lab	2d150b16b6
12:49579539 TUBA1A C>T	12	49579539	49579539	C	T	TUBA1A	c.610G>A	NM_001270399.1	NP_001257328.1:p.(Val204Ile)	NC_000012.11:g.49579539C>T	(Likely) pathogenic	1 lab	2d151e5695
16:1706365 CRAMP1 G>A	16	1706365	1706365	G	A	CRAMP1	c.1607G>A	NM_020825.3	NP_065876.3:p.(Arg536Gln)	NC_000016.9:g.1706365G>A	VUS	1 lab	2d17616152
X:47001820 NDUFB11 G>A	X	47001820	47001820	G	A	NDUFB11	c.388C>T	NM_019056.6	NP_061929.2:p.(Arg130Cys)	NC_000023.10:g.47001820G>A	VUS	1 lab	2d17d9e9c6
17:4443698 MYBBP1A C>T	17	4443698	4443698	C	T	MYBBP1A	c.3379G>A	NM_014520.3	NP_055335.2:p.(Gly1127Ser)	NC_000017.10:g.4443698C>T	(Likely) benign	1 lab	2d1889666c
3:100025323 TBC1D23 A>C	3	100025323	100025323	A	C	TBC1D23	c.1349A>C	NM_018309.4	NP_060779.2:p.(Glu450Ala)	NC_000003.11:g.100025323A>C	VUS	1 lab	2d19aee9d0
2:233990575 INPP5D G>A	2	233990575	233990575	G	A	INPP5D	c.470G>A	NM_001017915.3	NP_001017915.1:p.(Arg157Gln)	NC_000002.11:g.233990575G>A	(Likely) benign	1 lab	2d1a3793f7
X:128722243 OCRL A>G	X	128722243	128722243	A	G	OCRL	c.2341+3A>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128722243A>G	VUS	1 lab	2d1cad0d7b
10:134659724 CFAP46 G>A	10	134659724	134659724	G	A	CFAP46	c.6275C>T	NM_001200049.3	NP_001186978.2:p.(Ser2092Leu)	NC_000010.10:g.134659724G>A	VUS	1 lab	2d1e1532e6
10:73553374 CDH23 C>G	10	73553374	73553374	C	G	CDH23	c.6689C>G	NM_022124.5	NP_071407.4:p.(Ala2230Gly)	NC_000010.10:g.73553374C>G	VUS	1 lab	2d206e264c
1:236189269 NID1 G>A	1	236189269	236189269	G	A	NID1	c.1911C>T	NM_002508.2	NP_002499.2:p.(Ser637=)	NC_000001.10:g.236189269G>A	(Likely) benign	1 lab	2d20999b19
9:117836050 TNC G>A	9	117836050	117836050	G	A	TNC	c.3046C>T	NM_002160.3	NP_002151.2:p.(Arg1016Cys)	NC_000009.11:g.117836050G>A	VUS	1 lab	2d21b28ac1
1:228345489 GJC2 G>C	1	228345489	228345489	G	C	GJC2	c.30G>C	NM_020435.3	NP_065168.2:p.(Thr10=)	NC_000001.10:g.228345489G>C	(Likely) benign	1 lab	2d21db742c
21:34878328 GART C>T	21	34878328	34878328	C	T	GART	c.2536G>A	NM_001136005.1	NP_001129477.1:p.(Ala846Thr)	NC_000021.8:g.34878328C>T	(Likely) benign	1 lab	2d2391d2ae
X:135441544 ADGRG4 A>G	X	135441544	135441544	A	G	ADGRG4	c.7074A>G	NM_153834.3	NP_722576.3:p.(Thr2358=)	NC_000023.10:g.135441544A>G	(Likely) benign	1 lab	2d2445eed5
17:29576117 NF1 GTGTGCCACTGT>G	17	29576117	29576129	GTGTGCCACTGT	G	NF1	c.4092_4102del	NM_001042492.3	NP_001035957.1:p.(Cys1365IlefsTer11)	NC_000017.10:g.29576119_29576129del	(Likely) pathogenic	1 lab	2d25dbb667
20:31383353 DNMT3B T>G	20	31383353	31383353	T	G	DNMT3B	c.1252+13T>G	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31383353T>G	(Likely) benign	1 lab	e8904333a6
11:78277199 NARS2 A>G	11	78277199	78277199	A	G	NARS2	c.492T>C	NM_024678.6	NP_078954.4:p.(Ala164=)	NC_000011.9:g.78277199A>G	(Likely) benign	1 lab	2d27a2de9d
2:220417309 OBSL1 G>A	2	220417309	220417309	G	A	OBSL1	c.5257C>T	NM_015311.2	NP_056126.1:p.(Leu1753Phe)	NC_000002.11:g.220417309G>A	(Likely) benign	1 lab	2d2b9037ff
20:62321122 RTEL1 G>A	20	62321122	62321122	G	A	RTEL1	c.2045G>A	NM_001283009.1	NP_001269938.1:p.(Trp682Ter)	NC_000020.10:g.62321122G>A	(Likely) pathogenic	1 lab	2d2cc50b4d
17:45369757 ITGB3 C>T	17	45369757	45369757	C	T	ITGB3	c.1513C>T	NM_000212.2	NP_000203.2:p.(Arg505Cys)	NC_000017.10:g.45369757C>T	VUS	1 lab	2d2df8c092
5:77437028 AP3B1 T>C	5	77437028	77437028	T	C	AP3B1	c.1442A>G	NM_001271769.1	NP_001258698.1:p.(Asp481Gly)	NC_000005.9:g.77437028T>C	VUS	1 lab	2d2e6d7e04
9:131015388 DNM1 T>C	9	131015388	131015388	T	C	DNM1	c.2543T>C	NM_001288738.1	NP_001275667.1:p.(Ile848Thr)	NC_000009.11:g.131015388T>C	(Likely) benign	1 lab	2d2f7711ea
11:47373033 MYBPC3 G>A	11	47373033	47373033	G	A	MYBPC3	c.49C>T	NM_000256.3	NP_000247.2:p.(Arg17Trp)	NC_000011.9:g.47373033G>A	VUS	1 lab	2d317f493a
16:30750590 SRCAP C>A	16	30750590	30750590	C	A	SRCAP	c.9229C>A	NM_006662.2	NP_006653.2:p.(Arg3077=)	NC_000016.9:g.30750590C>A	(Likely) benign	1 lab	2d3241351e
16:2112603 TSC2 T>C	16	2112603	2112603	T	C	TSC2	c.1361+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112603T>C	(Likely) pathogenic	1 lab	2d32b4a28a
7:16415722 CRPPA G>A	7	16415722	16415722	G	A	CRPPA	c.679C>T	NM_001101426.3	NP_001094896.1:p.(Gln227Ter)	NC_000007.13:g.16415722G>A	(Likely) pathogenic	1 lab	2d3588236b
X:70340920 MED12 C>T	X	70340920	70340920	C	T	MED12	c.653C>T	NM_005120.2	NP_005111.2:p.(Thr218Met)	NC_000023.10:g.70340920C>T	VUS	1 lab	2d35f96c6e
X:129055457 UTP14A G>T	X	129055457	129055457	G	T	UTP14A	c.1242G>T	NM_006649.4	NP_006640.2:p.(Val414=)	NC_000023.10:g.129055457G>T	(Likely) benign	1 lab	2d36e22202
17:33475369 UNC45B C>T	17	33475369	33475369	C	T	UNC45B	c.87C>T	NM_001033576.1	NP_001028748.1:p.(Tyr29=)	NC_000017.10:g.33475369C>T	(Likely) benign	1 lab	2d38072370
1:213061338 FLVCR1 G>C	1	213061338	213061338	G	C	FLVCR1	c.1302G>C	NM_014053.3	NP_054772.1:p.(Val434=)	NC_000001.10:g.213061338G>C	(Likely) benign	1 lab	2d38a8d076
X:49965533 AKAP4 G>A	X	49965533	49965533	G	A	AKAP4	c.8C>T	NM_003886.2	NP_003877.2:p.(Ala3Val)	NC_000023.10:g.49965533G>A	(Likely) benign	1 lab	2d38c3b174
5:118872248 HSD17B4 A>G	5	118872248	118872248	A	G	HSD17B4	c.2196+3A>G	NM_001199291.2	NP_001186220.1:p.?	NC_000005.9:g.118872248A>G	VUS	1 lab	2d39e9c26b
X:152956981 SLC6A8 G>A	X	152956981	152956981	G	A	SLC6A8	c.617G>A	NM_005629.3	NP_005620.1:p.(Arg206His)	NC_000023.10:g.152956981G>A	(Likely) benign	1 lab	2d3bb183ab
17:29562791 NF1 G>C	17	29562791	29562791	G	C	NF1	c.3870+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562791G>C	(Likely) pathogenic	1 lab	2d3c3f36b7
14:77765819 POMT2 T>C	14	77765819	77765819	T	C	POMT2	c.902A>G	NM_013382.5	NP_037514.2:p.(His301Arg)	NC_000014.8:g.77765819T>C	VUS	1 lab	2d3e7ebe2d
5:1201927 SLC6A19 C>T	5	1201927	1201927	C	T	SLC6A19	c.162C>T	NM_001003841.2	NP_001003841.1:p.(Asn54=)	NC_000005.9:g.1201927C>T	(Likely) benign	1 lab	2d40164ee5
17:29653272 NF1 T>C	17	29653272	29653272	T	C	NF1	c.5205+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653272T>C	(Likely) pathogenic	1 lab	2d41131624
3:127775556 SEC61A1 AT>A	3	127775556	127775558	AT	A	SEC61A1	c.227del	NM_013336.4	NP_037468.1:p.(Leu76Ter)	NC_000003.11:g.127775558del	VUS	1 lab	e8961cd0f9
17:41908988 MPP3 T>C	17	41908988	41908988	T	C	MPP3	c.158A>G	NM_001330233.1	NP_001317162.1:p.(Lys53Arg)	NC_000017.10:g.41908988T>C	(Likely) benign	1 lab	2d445d6108
17:32965228 TMEM132E C>G	17	32965228	32965228	C	G	TMEM132E	c.3202C>G	NM_001304438.1	NP_001291367.1:p.(Arg1068Gly)	NC_000017.10:g.32965228C>G	VUS	1 lab	2d449ec0a3
3:4703939 ITPR1 G>A	3	4703939	4703939	G	A	ITPR1	c.1412+13G>A	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4703939G>A	(Likely) benign	1 lab	2d44f59bbd
3:45559464 LARS2 C>A	3	45559464	45559464	C	A	LARS2	c.2114C>A	NM_015340.4	NP_056155.1:p.(Ala705Asp)	NC_000003.11:g.45559464C>A	VUS	1 lab	2d46986f52
17:78085825 GAA C>CAGCCACCAGTTTCTCTCCA	17	78085825	78085844	C	CAGCCACCAGTTTCTCTCCA	GAA	c.1681_1699dup	NM_000152.3	NP_000143.2:p.(Thr567LysfsTer75)	NC_000017.10:g.78085826_78085844dup	(Likely) pathogenic	1 lab	2d47094189
16:81934262 PLCG2 A>G	16	81934262	81934262	A	G	PLCG2	c.1239A>G	NM_002661.3	NP_002652.2:p.(Gln413=)	NC_000016.9:g.81934262A>G	(Likely) benign	1 lab	2d4a6fd1fa
17:48653188 CACNA1G G>A	17	48653188	48653188	G	A	CACNA1G	c.1425G>A	NM_018896.4	NP_061496.2:p.(Glu475=)	NC_000017.10:g.48653188G>A	(Likely) benign	1 lab	2d4a809aea
2:241710412 KIF1A G>A	2	241710412	241710412	G	A	KIF1A	c.1317C>T	NM_001244008.1	NP_001230937.1:p.(Ser439=)	NC_000002.11:g.241710412G>A	(Likely) benign	1 lab	2d4a997358
X:100104396 NOX1 C>A	X	100104396	100104396	C	A	NOX1	c.1316G>T	NM_007052.4	NP_008983.2:p.(Cys439Phe)	NC_000023.10:g.100104396C>A	VUS	1 lab	2d4b563caa
X:105199526 NRK C>T	X	105199526	105199526	C	T	NRK	c.4683C>T	NM_198465.3	NP_940867.2:p.(His1561=)	NC_000023.10:g.105199526C>T	(Likely) benign	1 lab	2d4bf0505b
15:85383198 ALPK3 GC>G	15	85383198	85383199	GC	G	ALPK3	c.689del	NM_020778.5	NP_065829.4:p.(Ala230ValfsTer36)	NC_000015.9:g.85383199del	VUS	1 lab	2d4bf53d88
10:54049984 PRKG1 A>T	10	54049984	54049984	A	T	PRKG1	c.1851A>T	NM_001098512.3	NP_001091982.1:p.(Lys617Asn)	NC_000010.10:g.54049984A>T	VUS	1 lab	2d4d142992
X:137792979 MISSING C>A	X	137792979	137792979	C	A	MISSING				NC_000023.10:g.137792979C>A	VUS	1 lab	2d4dcebb89
16:75512734 CHST6 C>A	16	75512734	75512734	C	A	CHST6	c.993G>T	NM_021615.5	NP_067628.1:p.(Gln331His)	NC_000016.9:g.75512734C>A	(Likely) benign	1 lab	2d51679bb2
5:158750281 IL12B T>C	5	158750281	158750281	T	C	IL12B	c.145A>G	NM_002187.2	NP_002178.2:p.(Thr49Ala)	NC_000005.9:g.158750281T>C	VUS	1 lab	2d52c31796
1:27087911 ARID1A C>T	1	27087911	27087911	C	T	ARID1A	c.2198C>T	NM_006015.4	NP_006006.3:p.(Ser733Leu)	NC_000001.10:g.27087911C>T	VUS	1 lab	2d531d5def
12:116424252 MED13L AG>A	12	116424252	116424253	AG	A	MED13L	c.4156del	NM_015335.5	NP_056150.1:p.(Leu1386TrpfsTer2)	NC_000012.11:g.116424253del	(Likely) pathogenic	1 lab	2d5436831d
15:99500266 IGF1R C>A	15	99500266	99500266	C	A	IGF1R	c.3723-24C>A	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99500266C>A	(Likely) benign	1 lab	2d54bf2be8
4:36295219 DTHD1 G>A	4	36295219	36295219	G	A	DTHD1	c.915G>A	NM_001170700.2	NP_001164171.1:p.(Ser305=)	NC_000004.11:g.36295219G>A	(Likely) benign	1 lab	2d5598da70
11:6518570 DNHD1 T>C	11	6518570	6518570	T	C	DNHD1	c.-529+9T>C	NM_144666.2	NP_653267.2:p.?	NC_000011.9:g.6518570T>C	(Likely) benign	1 lab	2d56ebcc31
17:60683562 TLK2 C>T	17	60683562	60683562	C	T	TLK2	c.1931C>T	NM_006852.6	NP_006843.2:p.(Ser644Leu)	NC_000017.10:g.60683562C>T	VUS	1 lab	e8991134fb
15:25615839 UBE3A A>G	15	25615839	25615839	A	G	UBE3A	c.1491T>C	NM_000462.5	NP_000453.2:p.(Asn497=)	NC_000015.9:g.25615839A>G	(Likely) benign	1 lab	2d58958ee7
6:152770674 SYNE1 G>A	6	152770674	152770674	G	A	SYNE1	c.3498C>T	NM_182961.3	NP_892006.3:p.(Ala1166=)	NC_000006.11:g.152770674G>A	(Likely) benign	1 lab	2d5979fa7e
9:137717724 COL5A1 G>A	9	137717724	137717724	G	A	COL5A1	c.5041G>A	NM_000093.4	NP_000084.3:p.(Val1681Ile)	NC_000009.11:g.137717724G>A	(Likely) benign	1 lab	2d5aecc6e0
18:44560732 ELOA2 C>G	18	44560732	44560732	C	G	ELOA2	c.904G>C	NM_016427.2	NP_057511.2:p.(Asp302His)	NC_000018.9:g.44560732C>G	(Likely) benign	1 lab	2d5b7981ad
7:1535085 INTS1 T>C	7	1535085	1535085	T	C	INTS1	c.1816A>G	NM_001080453.3	NP_001073922.2:p.(Lys606Glu)	NC_000007.13:g.1535085T>C	(Likely) benign	1 lab	2d5c073586
12:133226066 POLE C>A	12	133226066	133226066	C	A	POLE	c.3831G>T	NM_006231.4	NP_006222.2:p.(Lys1277Asn)	NC_000012.11:g.133226066C>A	VUS	1 lab	e89fd8bf58
17:29552259 NF1 CT>C	17	29552259	29552260	CT	C	NF1	c.1993del	NM_001042492.3	NP_001035957.1:p.(Ser665ProfsTer23)	NC_000017.10:g.29552260del	(Likely) pathogenic	1 lab	2d5c8be59f
10:55582753 PCDH15 A>G	10	55582753	55582753	A	G	PCDH15	c.4754T>C	NM_001142763.1	NP_001136235.1:p.(Val1585Ala)	NC_000010.10:g.55582753A>G	(Likely) benign	1 lab	2d5ce00f1b
22:39996628 CACNA1I A>G	22	39996628	39996628	A	G	CACNA1I	c.452A>G	NM_021096.4	NP_066919.2:p.(Asn151Ser)	NC_000022.10:g.39996628A>G	VUS	1 lab	e8a0dd724e
9:80343585 GNAQ T>TG	9	80343585	80343587	T	TG	GNAQ	c.736-3dup	NM_002072.4	NP_002063.2:p.?	NC_000009.11:g.80343587dup	(Likely) benign	1 lab	2d5da44744
22:19164702 SLC25A1 C>A	22	19164702	19164702	C	A	SLC25A1	c.457G>T	NM_005984.4	NP_005975.1:p.(Asp153Tyr)	NC_000022.10:g.19164702C>A	VUS	1 lab	2d5df619e8
16:72832550 ZFHX3 A>C	16	72832550	72832550	A	C	ZFHX3	c.4031T>G	NM_006885.4	NP_008816.3:p.(Leu1344Trp)	NC_000016.9:g.72832550A>C	(Likely) benign	1 lab	e8a2f97357
13:32914938 BRCA2 TTA>T	13	32914938	32914940	TTA	T	BRCA2	c.6447_6448del	NM_000059.4	NP_000050.3:p.(Lys2150SerfsTer25)	NC_000013.10:g.32914939_32914940del	(Likely) pathogenic	1 lab	e8a477a0bc
17:29679346 NF1 CT>C	17	29679346	29679347	CT	C	NF1	c.7530del	NM_001042492.3	NP_001035957.1:p.(Val2511SerfsTer12)	NC_000017.10:g.29679347del	(Likely) pathogenic	1 lab	2d5f238f65
14:91739220 CCDC88C G>A	14	91739220	91739220	G	A	CCDC88C	c.5836C>T	NM_001080414.3	NP_001073883.2:p.(Arg1946Cys)	NC_000014.8:g.91739220G>A	VUS	1 lab	2d608f2f0a
11:62380931 ROM1 C>A	11	62380931	62380931	C	A	ROM1	c.178C>A	NM_000327.3	NP_000318.1:p.(Pro60Thr)	NC_000011.9:g.62380931C>A	(Likely) benign	1 lab	2d6233b731
X:49062235 CACNA1F C>T	X	49062235	49062235	C	T	CACNA1F	c.5544G>A	NM_005183.3	NP_005174.2:p.(Leu1848=)	NC_000023.10:g.49062235C>T	(Likely) benign	1 lab	2d6416eb80
8:90970954 NBN A>G	8	90970954	90970954	A	G	NBN	c.877T>C	NM_001024688.2	NP_001019859.1:p.(Trp293Arg)	NC_000008.10:g.90970954A>G	(Likely) benign	1 lab	2d652e93c8
8:10468976 RP1L1 G>C	8	10468976	10468976	G	C	RP1L1	c.2632C>G	NM_178857.5	NP_849188.4:p.(Gln878Glu)	NC_000008.10:g.10468976G>C	(Likely) benign	1 lab	2d67eb9f10
13:103705055 SLC10A2 G>A	13	103705055	103705055	G	A	SLC10A2	c.500C>T	NM_000452.2	NP_000443.1:p.(Thr167Ile)	NC_000013.10:g.103705055G>A	(Likely) benign	1 lab	2d6999d2d2
11:44286458 ALX4 C>T	11	44286458	44286458	C	T	ALX4	c.1182G>A	NM_021926.4	NP_068745.2:p.(Ala394=)	NC_000011.9:g.44286458C>T	VUS	1 lab	2d6c363583
3:45461193 LARS2 G>A	3	45461193	45461193	G	A	LARS2	c.488G>A	NM_015340.4	NP_056155.1:p.(Arg163His)	NC_000003.11:g.45461193G>A	VUS	1 lab	2d6c447d96
1:211652533 RD3 G>T	1	211652533	211652533	G	T	RD3	c.433C>A	NM_183059.2	NP_898882.1:p.(Arg145=)	NC_000001.10:g.211652533G>T	(Likely) benign	1 lab	2d6d51a4a0
1:220356104 RAB3GAP2 A>T	1	220356104	220356104	A	T	RAB3GAP2	c.2168T>A	NM_012414.3	NP_036546.2:p.(Val723Glu)	NC_000001.10:g.220356104A>T	(Likely) benign	1 lab	2d6d8539db
3:38645516 SCN5A C>T	3	38645516	38645516	C	T	SCN5A	c.1577G>A	NM_198056.2	NP_932173.1:p.(Arg526His)	NC_000003.11:g.38645516C>T	VUS	1 lab	2d6f2efe99
X:100748342 ARMCX4 C>G	X	100748342	100748342	C	G	ARMCX4	c.4766C>G	NM_001256155.2	NP_001243084.2:p.(Ala1589Gly)	NC_000023.10:g.100748342C>G	VUS	1 lab	2d6f9f03d1
19:42879847 MEGF8 C>T	19	42879847	42879847	C	T	MEGF8	c.7458C>T	NM_001271938.2	NP_001258867.1:p.(Asn2486=)	NC_000019.9:g.42879847C>T	(Likely) benign	1 lab	2d6feee251
X:79282757 TBX22 T>A	X	79282757	79282757	T	A	TBX22	c.801T>A	NM_001109878.1	NP_001103348.1:p.(Ile267=)	NC_000023.10:g.79282757T>A	(Likely) benign	1 lab	2d7066c7a8
1:17355226 SDHB A>G	1	17355226	17355226	A	G	SDHB	c.292T>C	NM_003000.3	NP_002991.2:p.(Cys98Arg)	NC_000001.10:g.17355226A>G	(Likely) pathogenic	1 lab	e8a637c4fc
3:81548209 GBE1 T>TAAG	3	81548209	81548212	T	TAAG	GBE1	c.2052+51_2052+52insCTT	NM_000158.3	NP_000149.3:p.?	NC_000003.11:g.81548211_81548212insGAA	(Likely) benign	1 lab	2d70d80a85
15:28475577 HERC2 GCTT>G	15	28475577	28475585	GCTT	G	HERC2	c.4742_4744del	NM_004667.6	NP_004658.3:p.(Glu1581del)	NC_000015.9:g.28475583_28475585del	VUS	1 lab	2d715ab0f5
22:21345987 LZTR1 AC>A	22	21345987	21345989	AC	A	LZTR1	c.864del	NM_006767.4	NP_006758.2:p.(Met289TrpfsTer62)	NC_000022.10:g.21345989del	(Likely) pathogenic	1 lab	2d7319958a
8:10480683 RP1L1 G>A	8	10480683	10480683	G	A	RP1L1	c.29C>T	NM_178857.5	NP_849188.4:p.(Ala10Val)	NC_000008.10:g.10480683G>A	(Likely) benign	1 lab	2d733e9e0b
13:111372099 ING1 T>A	13	111372099	111372099	T	A	ING1	c.660T>A	NM_198219.2	NP_937862.1:p.(Tyr220Ter)	NC_000013.10:g.111372099T>A	VUS	1 lab	2d74747a44
5:138283072 SIL1 A>T	5	138283072	138283072	A	T	SIL1	c.1120T>A	NM_001037633.1	NP_001032722.1:p.(Trp374Arg)	NC_000005.9:g.138283072A>T	(Likely) benign	1 lab	2d75469dd4
2:48023108 MSH6 G>T	2	48023108	48023108	G	T	MSH6	c.533G>T	NM_000179.3	NP_000170.1:p.(Arg178Leu)	NC_000002.11:g.48023108G>T	VUS	1 lab	e8a7afcc2b
21:30402931 USP16 A>G	21	30402931	30402931	A	G	USP16	c.77A>G	NM_001032410.1	NP_001027582.1:p.(His26Arg)	NC_000021.8:g.30402931A>G	VUS	1 lab	2d7804403f
18:47369741 MYO5B G>A	18	47369741	47369741	G	A	MYO5B	c.4481C>T	NM_001080467.2	NP_001073936.1:p.(Ser1494Leu)	NC_000018.9:g.47369741G>A	VUS	1 lab	2d7810749e
X:119670821 CUL4B C>T	X	119670821	119670821	C	T	CUL4B	c.2061G>A	NM_003588.4	NP_003579.3:p.(Trp687Ter)	NC_000023.10:g.119670821C>T	(Likely) pathogenic	1 lab	e8aabaf7a2
1:36225997 CLSPN G>A	1	36225997	36225997	G	A	CLSPN	c.1525C>T	NM_022111.4	NP_071394.2:p.(Arg509Trp)	NC_000001.10:g.36225997G>A	VUS	1 lab	2d79cadfb2
1:2235762 SKI C>T	1	2235762	2235762	C	T	SKI	c.1505C>T	NM_003036.3	NP_003027.1:p.(Pro502Leu)	NC_000001.10:g.2235762C>T	VUS	1 lab	2d7bc3ab96
7:44715767 OGDH C>A	7	44715767	44715767	C	A	OGDH	c.1225C>A	NM_001003941.2	NP_001003941.1:p.(Arg409Ser)	NC_000007.13:g.44715767C>A	VUS	1 lab	2d8057f7a1
5:40958348 C7 G>A	5	40958348	40958348	G	A	C7	c.1474G>A	NM_000587.2	NP_000578.2:p.(Val492Ile)	NC_000005.9:g.40958348G>A	(Likely) benign	1 lab	2d82e47442
17:40469241 STAT3 G>A	17	40469241	40469241	G	A	STAT3	c.2103C>T	NM_139276.2	NP_644805.1:p.(Ser701=)	NC_000017.10:g.40469241G>A	VUS	1 lab	2d8339f820
2:110886347 NPHP1 C>T	2	110886347	110886347	C	T	NPHP1	c.1884+416G>A	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110886347C>T	(Likely) benign	1 lab	2d8348bc69
8:61734438 CHD7 C>T	8	61734438	61734438	C	T	CHD7				NC_000008.10:g.61734438C>T	(Likely) benign	1 lab	2d8386a709
2:28975045 PPP1CB G>A	2	28975045	28975045	G	A	PPP1CB	c.52+3G>A	NM_002709.3	NP_002700.1:p.?	NC_000002.11:g.28975045G>A	VUS	1 lab	2d83b20a79
6:86284095 SNX14 A>G	6	86284095	86284095	A	G	SNX14	c.142T>C	NM_153816.5	NP_722523.1:p.(Tyr48His)	NC_000006.11:g.86284095A>G	VUS	1 lab	2d84f7008c
12:111772279 CUX2 AC>A	12	111772279	111772285	AC	A	CUX2	c.2967del	NM_015267.4	NP_056082.2:p.(Ser990AlafsTer13)	NC_000012.11:g.111772285del	VUS	1 lab	e8ae74827c
1:94481287 ABCA4 C>T	1	94481287	94481287	C	T	ABCA4	c.5312+8G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94481287C>T	(Likely) benign	1 lab	2d8a4f0d05
X:53619543 HUWE1 TC>T	X	53619543	53619544	TC	T	HUWE1	c.3786del	NM_031407.7	NP_113584.3:p.(Lys1263ArgfsTer24)	NC_000023.10:g.53619544del	(Likely) pathogenic	1 lab	2d8b2d2be8
17:6718554 TEKT1 T>C	17	6718554	6718554	T	C	TEKT1	c.557A>G	NM_053285.2	NP_444515.1:p.(Asp186Gly)	NC_000017.10:g.6718554T>C	VUS	1 lab	2d8bf5e4a4
4:2829000 SH3BP2 C>T	4	2829000	2829000	C	T	SH3BP2	c.643C>T	NM_001145856.1	NP_001139328.1:p.(Arg215Trp)	NC_000004.11:g.2829000C>T	VUS	1 lab	2d8c029be2
6:16327770 ATXN1 C>A	6	16327770	16327770	C	A	ATXN1	c.772G>T	NM_000332.3	NP_000323.2:p.(Gly258Cys)	NC_000006.11:g.16327770C>A	VUS	1 lab	2d8c510c0f
7:154587787 DPP6 G>T	7	154587787	154587787	G	T	DPP6	c.1301G>T	NM_001364501.2	NP_001351430.1:p.(Arg434Ile)	NC_000007.13:g.154587787G>T	VUS	1 lab	e8aff4deff
7:31864549 PDE1C G>A	7	31864549	31864549	G	A	PDE1C	c.1518C>T	NM_001322058.1	NP_001308987.1:p.(Thr506=)	NC_000007.13:g.31864549G>A	(Likely) benign	1 lab	2d8f2bd5f2
11:9200426 DENND5A C>T	11	9200426	9200426	C	T	DENND5A	c.1362G>A	NM_001348750.1	NP_001335679.1:p.(Glu454=)	NC_000011.9:g.9200426C>T	(Likely) benign	1 lab	2d8f6fefc9
11:47355105 MYBPC3 C>T	11	47355105	47355105	C	T	MYBPC3	c.3190+3G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355105C>T	(Likely) benign	1 lab	2c456ae7a3
21:44839781 SIK1 G>A	21	44839781	44839781	G	A	SIK1	c.1077C>T	NM_173354.4	NP_775490.2:p.(Ala359=)	NC_000021.8:g.44839781G>A	(Likely) benign	1 lab	2d90330ad8
6:10398785 TFAP2A G>A	6	10398785	10398785	G	A	TFAP2A	c.1161C>T	NM_001032280.2	NP_001027451.1:p.(Ala387=)	NC_000006.11:g.10398785G>A	(Likely) benign	1 lab	2d905e844e
15:57896485 MYZAP C>T	15	57896485	57896485	C	T	MYZAP	c.94C>T	NM_001018100.5	NP_001018110.1:p.(Arg32Trp)	NC_000015.9:g.57896485C>T	VUS	1 lab	e8b47c3a5d
9:71836028 TJP2 G>T	9	71836028	71836028	G	T	TJP2	c.568G>T	NM_004817.4	NP_004808.2:p.(Asp190Tyr)	NC_000009.11:g.71836028G>T	VUS	1 lab	2d93c75f50
X:115573882 SLC6A14 C>T	X	115573882	115573882	C	T	SLC6A14	c.374C>T	NM_007231.4	NP_009162.1:p.(Ser125Phe)	NC_000023.10:g.115573882C>T	VUS	1 lab	2d93ff17ac
X:79286591 TBX22 C>A	X	79286591	79286591	C	A	TBX22	c.1544C>A	NM_001109878.1	NP_001103348.1:p.(Ala515Glu)	NC_000023.10:g.79286591C>A	(Likely) benign	1 lab	2d946e07d7
20:48166642 PTGIS G>A	20	48166642	48166642	G	A	PTGIS	c.159C>T	NM_000961.3	NP_000952.1:p.(Phe53=)	NC_000020.10:g.48166642G>A	(Likely) benign	1 lab	2d95c627ce
X:117815751 DOCK11 T>C	X	117815751	117815751	T	C	DOCK11	c.5957T>C	NM_144658.3	NP_653259.3:p.(Met1986Thr)	NC_000023.10:g.117815751T>C	(Likely) benign	1 lab	2d9640a019
17:29546122 NF1 C>T	17	29546122	29546122	C	T	NF1	c.1627C>T	NM_000267.3	NP_000258.1:p.(Gln543Ter)	NC_000017.10:g.29546122C>T	(Likely) pathogenic	1 lab	2d9724574c
X:2777945 GYG2 T>C	X	2777945	2777945	T	C	GYG2	c.769T>C	NM_003918.2	NP_003909.2:p.(Tyr257His)	NC_000023.10:g.2777945T>C	VUS	1 lab	2df951ba97
17:76451928 DNAH17 G>T	17	76451928	76451928	G	T	DNAH17	c.9978-10C>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76451928G>T	(Likely) benign	1 lab	2d988fd6f5
11:17631473 OTOG C>T	11	17631473	17631473	C	T	OTOG	c.4662C>T	NM_001277269.1	NP_001264198.1:p.(Pro1554=)	NC_000011.9:g.17631473C>T	(Likely) benign	1 lab	2d99289163
18:46889603 DYM C>T	18	46889603	46889603	C	T	DYM	c.422G>A	NM_001353214.1	NP_001340143.1:p.(Ser141Asn)	NC_000018.9:g.46889603C>T	VUS	1 lab	2d997c41f0
18:52899838 TCF4 G>A	18	52899838	52899838	G	A	TCF4	c.1551C>T	NM_001083962.1	NP_001077431.1:p.(Asp517=)	NC_000018.9:g.52899838G>A	(Likely) benign	1 lab	2d9ac96f00
11:134051069 NCAPD3 G>A	11	134051069	134051069	G	A	NCAPD3	c.2462C>T	NM_015261.2	NP_056076.1:p.(Thr821Met)	NC_000011.9:g.134051069G>A	(Likely) benign	1 lab	2d9c0d788c
12:102182369 GNPTAB T>C	12	102182369	102182369	T	C	GNPTAB	c.324-2A>G	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102182369T>C	(Likely) pathogenic	1 lab	2d9cba40bb
X:108867904 KCNE5 C>T	X	108867904	108867904	C	T	KCNE5	c.346G>A	NM_012282.3	NP_036414.1:p.(Ala116Thr)	NC_000023.10:g.108867904C>T	(Likely) benign	1 lab	2d9e184d23
5:82835767 VCAN A>G	5	82835767	82835767	A	G	VCAN	c.6945A>G	NM_004385.4	NP_004376.2:p.(Val2315=)	NC_000005.9:g.82835767A>G	(Likely) benign	1 lab	2d9f6d15ec
17:61574311 ACE T>C	17	61574311	61574311	T	C	ACE	c.3656T>C	NM_000789.3	NP_000780.1:p.(Leu1219Pro)	NC_000017.10:g.61574311T>C	VUS	1 lab	2d9fe06786
16:88499107 ZNF469 C>A	16	88499107	88499107	C	A	ZNF469				NC_000016.9:g.88499107C>A	(Likely) benign	1 lab	2da13d0ab2
22:30050657 NF2 C>TG	22	30050657	30050657	C	TG	NF2	c.459delinsTG	NM_000268.3	NP_000259.1:p.(Asp154GlyfsTer49)	NC_000022.10:g.30050657delinsTG	(Likely) pathogenic	1 lab	2da15d2373
22:24898175 UPB1 G>T	22	24898175	24898175	G	T	UPB1	c.358G>T	NM_016327.2	NP_057411.1:p.(Ala120Ser)	NC_000022.10:g.24898175G>T	VUS	1 lab	2da16800bd
16:70954944 HYDIN G>C	16	70954944	70954944	G	C	HYDIN	c.7335C>G	NM_001270974.2	NP_001257903.1:p.(Asn2445Lys)	NC_000016.9:g.70954944G>C	(Likely) benign	1 lab	2da2c99428
X:47307937 ZNF41 T>C	X	47307937	47307937	T	C	ZNF41	c.1232A>G	NM_007130.3	NP_009061.1:p.(Tyr411Cys)	NC_000023.10:g.47307937T>C	(Likely) benign	1 lab	2da2d204d0
3:127323791 MCM2 G>A	3	127323791	127323791	G	A	MCM2	c.465G>A	NM_004526.3	NP_004517.2:p.(Glu155=)	NC_000003.11:g.127323791G>A	(Likely) benign	1 lab	2da436898f
22:24717850 SPECC1L A>G	22	24717850	24717850	A	G	SPECC1L	c.902=	NM_015330.6	NP_056145.5:p.(Gly301=)	NC_000022.10:g.24717850A>G	(Likely) benign	1 lab	e92a9098b6
2:44209572 LRPPRC C>G	2	44209572	44209572	C	G	LRPPRC	c.151G>C	NM_133259.3	NP_573566.2:p.(Gly51Arg)	NC_000002.11:g.44209572C>G	(Likely) benign	1 lab	2da5531868
19:8993373 MUC16 C>T	19	8993373	8993373	C	T	MUC16	c.41716G>A	NM_024690.2	NP_078966.2:p.(Gly13906Ser)	NC_000019.9:g.8993373C>T	VUS	1 lab	2da61776ad
13:32929086 BRCA2 C>G	13	32929086	32929086	C	G	BRCA2	c.7096C>G	NM_000059.3	NP_000050.2:p.(Leu2366Val)	NC_000013.10:g.32929086C>G	(Likely) benign	1 lab	2da63ce9ce
2:32449565 NLRC4 C>T	2	32449565	32449565	C	T	NLRC4	c.3052G>A	NM_021209.4	NP_067032.3:p.(Ala1018Thr)	NC_000002.11:g.32449565C>T	VUS	1 lab	2da78f0584
17:48734135 ABCC3 C>T	17	48734135	48734135	C	T	ABCC3	c.295C>T	NM_003786.4	NP_003777.2:p.(Arg99Trp)	NC_000017.10:g.48734135C>T	(Likely) benign	1 lab	2da8618475
8:37822907 ADRB3 A>G	8	37822907	37822907	A	G	ADRB3	c.1081T>C	NM_000025.2	NP_000016.1:p.(Cys361Arg)	NC_000008.10:g.37822907A>G	VUS	1 lab	2da87dd5c3
8:106815069 ZFPM2 G>A	8	106815069	106815069	G	A	ZFPM2	c.2363G>A	NM_001362837.1	NP_001349766.1:p.(Gly788Glu)	NC_000008.10:g.106815069G>A	VUS	1 lab	2da967f309
6:64430556 EYS A>G	6	64430556	64430556	A	G	EYS	c.9434T>C	NM_001292009.1	NP_001278938.1:p.(Ile3145Thr)	NC_000006.11:g.64430556A>G	(Likely) benign	1 lab	2daafc5ce1
2:128379623 MYO7B C>T	2	128379623	128379623	C	T	MYO7B	c.3514C>T	NM_001080527.1	NP_001073996.1:p.(Arg1172Cys)	NC_000002.11:g.128379623C>T	VUS	1 lab	2daed0799d
1:186120464 HMCN1 A>G	1	186120464	186120464	A	G	HMCN1	c.14741A>G	NM_031935.2	NP_114141.2:p.(Asn4914Ser)	NC_000001.10:g.186120464A>G	VUS	1 lab	2db273c6eb
17:39389072 KRTAP9-3 C>T	17	39389072	39389072	C	T	KRTAP9-3	c.319C>T	NM_031962.2	NP_114168.1:p.(His107Tyr)	NC_000017.10:g.39389072C>T	VUS	1 lab	2db2a202d3
17:41243837 BRCA1 TA>T	17	41243837	41243838	TA	T	BRCA1	c.3710del	NM_007294.4	NP_009225.1:p.(Ile1237AsnfsTer27)	NC_000017.10:g.41243838del	(Likely) pathogenic	1 lab	e8ba506787
15:90210197 PLIN1 G>A	15	90210197	90210197	G	A	PLIN1	c.1179C>T	NM_002666.5	NP_002657.3:p.(Asn393=)	NC_000015.9:g.90210197G>A	(Likely) benign	1 lab	e8ba718fd8
1:152285533 FLG C>A	1	152285533	152285533	C	A	FLG	c.1829G>T	NM_002016.1	NP_002007.1:p.(Gly610Val)	NC_000001.10:g.152285533C>A	VUS	1 lab	2db6793c2b
11:121032915 TECTA C>T	11	121032915	121032915	C	T	TECTA	c.5108C>T	NM_005422.2	NP_005413.2:p.(Pro1703Leu)	NC_000011.9:g.121032915C>T	VUS	1 lab	2db68bb004
22:46658266 PKDREJ C>T	22	46658266	46658266	C	T	PKDREJ	c.954G>A	NM_006071.1	NP_006062.1:p.(Met318Ile)	NC_000022.10:g.46658266C>T	(Likely) benign	1 lab	2db75e4cc6
7:19156636 TWIST1 G>T	7	19156636	19156636	G	T	TWIST1	c.309C>A	NM_000474.3	NP_000465.1:p.(Tyr103Ter)	NC_000007.13:g.19156636G>T	(Likely) pathogenic	1 lab	2dbc050dc9
8:100568665 VPS13B G>A	8	100568665	100568665	G	A	VPS13B	c.4821-13G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100568665G>A	(Likely) benign	1 lab	2dbca7367e
X:110366340 PAK3 C>T	X	110366340	110366340	C	T	PAK3	c.9C>T	NM_001128168.2	NP_001121640.1:p.(Asp3=)	NC_000023.10:g.110366340C>T	(Likely) benign	1 lab	2dbdd24b0f
17:18024756 MYO15A G>A	17	18024756	18024756	G	A	MYO15A	c.2642G>A	NM_016239.3	NP_057323.3:p.(Arg881Gln)	NC_000017.10:g.18024756G>A	(Likely) benign	1 lab	2dbde43777
1:183097795 LAMC1 G>A	1	183097795	183097795	G	A	LAMC1	c.3190G>A	NM_002293.3	NP_002284.3:p.(Glu1064Lys)	NC_000001.10:g.183097795G>A	VUS	1 lab	2dbe4fc074
3:41266962 CTNNB1 T>C	3	41266962	41266962	T	C	CTNNB1	c.633T>C	NM_001904.3	NP_001895.1:p.(Ala211=)	NC_000003.11:g.41266962T>C	(Likely) benign	1 lab	2dd142af4b
17:29528081 NF1 A>G	17	29528081	29528081	A	G	NF1	c.1089A>G	NM_000267.3	NP_000258.1:p.(Pro363=)	NC_000017.10:g.29528081A>G	(Likely) benign	1 lab	2dd191fe10
X:153590151 FLNA G>GGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACC	X	153590151	153590347	G	GGACCCTGGGAAGGGTGCAGAAGGGAAGGGGGTATTTAGAGACACCAGAATTGCTCCCCAACCCCCTCCTGGACCTCCATGCCTGTCCTCTCCCAGGTAAGGAATGAGAGTGGGCAGAAAGTCCCTCGGAGCTGTCCCCTAGGCTGCTGCATGAGGAGGCTGGGGACTCGGTGACTGTAGTGGAGGGTGTGGCTACC	FLNA	c.2826_2830dup	NM_001110556.2	NP_001104026.1:p.(Pro944ArgfsTer4)	NC_000023.10:g.153590152_153590347dup	(Likely) pathogenic	1 lab	2dbf2060cb
17:29586082 NF1 C>T	17	29586082	29586082	C	T	NF1	c.4302C>T	NM_000267.3	NP_000258.1:p.(Phe1434=)	NC_000017.10:g.29586082C>T	(Likely) benign	1 lab	2dc1a03e7d
2:73675719 ALMS1 A>G	2	73675719	73675719	A	G	ALMS1	c.2068A>G	NM_015120.4	NP_055935.4:p.(Thr690Ala)	NC_000002.11:g.73675719A>G	VUS	1 lab	2dc356b413
11:68216418 LRP5 A>C	11	68216418	68216418	A	C	LRP5	c.2985A>C	NM_001291902.1	NP_001278831.1:p.(Pro995=)	NC_000011.9:g.68216418A>C	(Likely) benign	1 lab	2dc43a9fcf
6:70990717 COL9A1 G>A	6	70990717	70990717	G	A	COL9A1	c.902C>T	NM_001851.4	NP_001842.3:p.(Pro301Leu)	NC_000006.11:g.70990717G>A	VUS	1 lab	2dc6680eea
7:128852193 SMO C>T	7	128852193	128852193	C	T	SMO	c.2265C>T	NM_005631.4	NP_005622.1:p.(Pro755=)	NC_000007.13:g.128852193C>T	(Likely) benign	1 lab	2dc676781c
X:36049386 CFAP47 G>T	X	36049386	36049386	G	T	CFAP47	c.3573G>T	NM_001304548.1	NP_001291477.1:p.(Leu1191Phe)	NC_000023.10:g.36049386G>T	VUS	1 lab	2dc863a3db
12:102147142 GNPTAB G>T	12	102147142	102147142	G	T	GNPTAB	c.3602+8C>A	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102147142G>T	(Likely) benign	1 lab	2dc9356ac4
X:75648429 MAGEE1 C>T	X	75648429	75648429	C	T	MAGEE1	c.106C>T	NM_020932.2	NP_065983.1:p.(Leu36Phe)	NC_000023.10:g.75648429C>T	(Likely) benign	1 lab	2dcc45662a
4:187629366 FAT1 C>T	4	187629366	187629366	C	T	FAT1	c.1616G>A	NM_005245.3	NP_005236.2:p.(Arg539His)	NC_000004.11:g.187629366C>T	VUS	1 lab	2dcd4d56b5
3:4703816 ITPR1 G>A	3	4703816	4703816	G	A	ITPR1	c.1302G>A	NM_001099952.2	NP_001093422.2:p.(Pro434=)	NC_000003.11:g.4703816G>A	(Likely) benign	1 lab	2dcec0261a
21:45750464 CFAP410 C>G	21	45750464	45750464	C	G	CFAP410	c.881G>C	NM_001271441.1	NP_001258370.1:p.(Trp294Ser)	NC_000021.8:g.45750464C>G	VUS	1 lab	2dd4e09bc1
11:85445318 SYTL2 G>A	11	85445318	85445318	G	A	SYTL2	c.1051C>T	NM_032943.4	NP_116561.1:p.(Arg351Trp)	NC_000011.9:g.85445318G>A	VUS	1 lab	2dd55a21e7
16:3580683 CLUAP1 G>A	16	3580683	3580683	G	A	CLUAP1	c.1036+8G>A	NM_001330454.1	NP_001317383.1:p.?	NC_000016.9:g.3580683G>A	(Likely) benign	1 lab	2dd5f97093
9:117165147 WHRN T>C	9	117165147	117165147	T	C	WHRN	c.2611A>G	NM_015404.3	NP_056219.3:p.(Thr871Ala)	NC_000009.11:g.117165147T>C	(Likely) benign	1 lab	2dd97d713c
9:35092073 PIGO C>CG	9	35092073	35092077	C	CG	PIGO	c.1810dup	NM_032634.3	NP_116023.2:p.(Arg604ProfsTer40)	NC_000009.11:g.35092077dup	(Likely) pathogenic	1 lab	2ddc24c670
7:99702708 AP4M1 G>A	7	99702708	99702708	G	A	AP4M1	c.714G>A	NM_004722.3	NP_004713.2:p.(Lys238=)	NC_000007.13:g.99702708G>A	(Likely) benign	1 lab	2ddc2b06df
17:61781071 STRADA C>T	17	61781071	61781071	C	T	STRADA	c.1184G>A	NM_001003787.3	NP_001003787.1:p.(Arg395His)	NC_000017.10:g.61781071C>T	(Likely) benign	1 lab	2ddf4dd08c
X:49021630 MAGIX G>A	X	49021630	49021630	G	A	MAGIX	c.610G>A	NM_024859.3	NP_079135.3:p.(Val204Ile)	NC_000023.10:g.49021630G>A	VUS	1 lab	2de056eeb3
5:36038059 UGT3A2 T>G	5	36038059	36038059	T	G	UGT3A2	c.1135A>C	NM_174914.4	NP_777574.2:p.(Ile379Leu)	NC_000005.9:g.36038059T>G	VUS	1 lab	2de2039dae
22:32480645 SLC5A1 A>G	22	32480645	32480645	A	G	SLC5A1	c.884A>G	NM_000343.3	NP_000334.1:p.(Gln295Arg)	NC_000022.10:g.32480645A>G	(Likely) pathogenic	1 lab	2de22bf55d
10:88428504 LDB3 G>C	10	88428504	88428504	G	C	LDB3	c.56G>C	NM_007078.2	NP_009009.1:p.(Gly19Ala)	NC_000010.10:g.88428504G>C	VUS	1 lab	2de4e1b427
7:21646255 DNAH11 C>A	7	21646255	21646255	C	A	DNAH11				NC_000007.13:g.21646255C>A	(Likely) benign	1 lab	2de5c8bca4
18:29126467 DSG2 G>A	18	29126467	29126467	G	A	DSG2	c.3118G>A	NM_001943.3	NP_001934.2:p.(Val1040Ile)	NC_000018.9:g.29126467G>A	(Likely) benign	1 lab	2de6b390a3
7:31862726 PDE1C G>T	7	31862726	31862726	G	T	PDE1C	c.1723C>A	NM_001191058.4	NP_001177987.2:p.(His575Asn)	NC_000007.13:g.31862726G>T	VUS	1 lab	e8bd833814
16:88494169 ZNF469 G>A	16	88494169	88494169	G	A	ZNF469				NC_000016.9:g.88494169G>A	(Likely) benign	1 lab	2de9136fc2
3:124567365 ITGB5 C>T	3	124567365	124567365	C	T	ITGB5	c.402G>A	NM_002213.5	NP_002204.2:p.(Glu134=)	NC_000003.11:g.124567365C>T	(Likely) benign	1 lab	2deb65db0f
X:107170232 MID2 C>T	X	107170232	107170232	C	T	MID2	c.2137C>T	NM_012216.3	NP_036348.2:p.(Pro713Ser)	NC_000023.10:g.107170232C>T	(Likely) benign	1 lab	2decc103d3
11:31823182 PAX6 G>A	11	31823182	31823182	G	A	PAX6	c.277G>T	NM_000280.5	NP_000271.1:p.(Glu93Ter)	NC_000011.9:g.31823182G>A	VUS	1 lab	ea4a0060d9
14:55618451 DLGAP5 C>T	14	55618451	55618451	C	T	DLGAP5	c.2330G>A	NM_001146015.1	NP_001139487.1:p.(Ser777Asn)	NC_000014.8:g.55618451C>T	(Likely) benign	1 lab	2dedec36c1
5:179260649 SQSTM1 A>G	5	179260649	179260649	A	G	SQSTM1	c.780A>G	NM_001142298.1	NP_001135770.1:p.(Lys260=)	NC_000005.9:g.179260649A>G	(Likely) benign	1 lab	2def13aaae
1:35250442 GJB3 G>A	1	35250442	35250442	G	A	GJB3	c.79G>A	NM_024009.3	NP_076872.1:p.(Val27Met)	NC_000001.10:g.35250442G>A	VUS	1 lab	e8bf2062d9
10:117823963 GFRA1 C>G	10	117823963	117823963	C	G	GFRA1	c.1344G>C	NM_005264.5	NP_005255.1:p.(Leu448=)	NC_000010.10:g.117823963C>G	(Likely) benign	1 lab	2df307ab0a
21:47786524 PCNT A>G	21	47786524	47786524	A	G	PCNT	c.2635A>G	NM_006031.5	NP_006022.3:p.(Thr879Ala)	NC_000021.8:g.47786524A>G	(Likely) benign	1 lab	2df6c549f0
5:56111425 MAP3K1 G>A	5	56111425	56111425	G	A	MAP3K1	c.25G>A	NM_005921.1	NP_005912.1:p.(Ala9Thr)	NC_000005.9:g.56111425G>A	(Likely) benign	1 lab	2df6fe3abc
10:50724175 ERCC6 G>A	10	50724175	50724175	G	A	ERCC6	c.2390C>T	NM_001277058.1	NP_001263987.1:p.(Ala797Val)	NC_000010.10:g.50724175G>A	VUS	1 lab	2df7690a1a
4:6303292 WFS1 G>C	4	6303292	6303292	G	C	WFS1	c.1770G>C	NM_006005.3	NP_005996.2:p.(Thr590=)	NC_000004.11:g.6303292G>C	(Likely) benign	1 lab	2df8100438
16:28890438 ATP2A1 G>T	16	28890438	28890438	G	T	ATP2A1	c.136+1G>T	NM_004320.4	NP_004311.1:p.?	NC_000016.9:g.28890438G>T	(Likely) pathogenic	1 lab	2df96f814f
X:153073353 PDZD4 C>T	X	153073353	153073353	C	T	PDZD4	c.7G>A	NM_001303513.1	NP_001290442.1:p.(Ala3Thr)	NC_000023.10:g.153073353C>T	(Likely) benign	1 lab	2df9988aea
16:732408 STUB1 G>A	16	732408	732408	G	A	STUB1	c.615G>A	NM_001293197.1	NP_001280126.1:p.(Gln205=)	NC_000016.9:g.732408G>A	(Likely) benign	1 lab	2dfb11ea01
19:10260624 DNMT1 G>A	19	10260624	10260624	G	A	DNMT1	c.2286C>T	NM_001130823.1	NP_001124295.1:p.(Tyr762=)	NC_000019.9:g.10260624G>A	(Likely) benign	1 lab	2dfb69ac9c
8:42177146 IKBKB T>C	8	42177146	42177146	T	C	IKBKB	c.1560T>C	NM_001556.3	NP_001547.1:p.(Ala520=)	NC_000008.10:g.42177146T>C	(Likely) benign	1 lab	2dfca07ffc
3:127318196 MCM2 G>A	3	127318196	127318196	G	A	MCM2	c.42G>A	NM_004526.3	NP_004517.2:p.(Pro14=)	NC_000003.11:g.127318196G>A	(Likely) benign	1 lab	2dfcb0d3eb
10:43572753 RET T>C	10	43572753	43572753	T	C	RET	c.47T>C	NM_020975.6	NP_066124.1:p.(Leu16Pro)	NC_000010.10:g.43572753T>C	VUS	1 lab	e8c145cc89
17:11543596 DNAH9 C>T	17	11543596	11543596	C	T	DNAH9	c.1796C>T	NM_001372.3	NP_001363.2:p.(Pro599Leu)	NC_000017.10:g.11543596C>T	(Likely) benign	1 lab	2dfeb21f75
12:51773435 GALNT6 T>G	12	51773435	51773435	T	G	GALNT6	c.131A>C	NM_007210.4	NP_009141.2:p.(Lys44Thr)	NC_000012.11:g.51773435T>G	VUS	1 lab	2dfff5eae2
22:50659212 TUBGCP6 A>G	22	50659212	50659212	A	G	TUBGCP6	c.3576T>C	NM_020461.3	NP_065194.2:p.(Ser1192=)	NC_000022.10:g.50659212A>G	(Likely) benign	1 lab	2e021afd28
19:1615786 TCF3 G>A	19	1615786	1615786	G	A	TCF3	c.1485C>T	NM_003200.5	NP_003191.1:p.(Ser495=)	NC_000019.9:g.1615786G>A	(Likely) benign	1 lab	2e03487364
5:1394856 SLC6A3 C>G	5	1394856	1394856	C	G	SLC6A3	c.1857G>C	NM_001044.4	NP_001035.1:p.(Lys619Asn)	NC_000005.9:g.1394856C>G	VUS	1 lab	2e03548df5
X:2406810 ZBED1 C>T	X	2406810	2406810	C	T	ZBED1	c.1951G>A	NM_001171135.1	NP_001164606.1:p.(Ala651Thr)	NC_000023.10:g.2406810C>T	(Likely) benign	1 lab	2e06660991
19:42796839 CIC C>CCCTGCACCCACT	19	42796839	42796851	C	CCCTGCACCCACT	CIC	c.3308_3309insTCCTGCACCCAC	NM_015125.5	NP_055940.3:p.(Pro1100_Thr1103dup)	NC_000019.9:g.42796850_42796851insTCCTGCACCCAC	VUS	1 lab	e8c45f8a27
6:7566651 DSP T>C	6	7566651	7566651	T	C	DSP	c.981T>C	NM_004415.2	NP_004406.2:p.(Asn327=)	NC_000006.11:g.7566651T>C	(Likely) benign	1 lab	2e07dc7e02
11:103060450 DYNC2H1 C>T	11	103060450	103060450	C	T	DYNC2H1	c.7342C>T	NM_001080463.1	NP_001073932.1:p.(Pro2448Ser)	NC_000011.9:g.103060450C>T	VUS	1 lab	2e0ae5b21e
2:186668702 FSIP2 T>C	2	186668702	186668702	T	C	FSIP2	c.14669T>C	NM_173651.3	NP_775922.3:p.(Ile4890Thr)	NC_000002.11:g.186668702T>C	VUS	1 lab	2e0d1cd549
6:32796669 TAP2 A>T	6	32796669	32796669	A	T	TAP2	c.2075T>A	NM_000544.3	NP_000535.3:p.(Leu692His)	NC_000006.11:g.32796669A>T	VUS	1 lab	2e0f73c112
5:176707544 NSD1 G>A	5	176707544	176707544	G	A	NSD1	c.5623-22G>A	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176707544G>A	(Likely) benign	1 lab	2e0f7cd0e6
1:17320300 ATP13A2 C>T	1	17320300	17320300	C	T	ATP13A2	c.1558G>A	NM_001141973.2	NP_001135445.1:p.(Val520Met)	NC_000001.10:g.17320300C>T	VUS	1 lab	2e0f9978c2
1:39910464 MACF1 A>C	1	39910464	39910464	A	C	MACF1	c.13385A>C	NM_012090.5	NP_036222.3:p.(Glu4462Ala)	NC_000001.10:g.39910464A>C	VUS	1 lab	2e10e8b294
14:100375705 EML1 T>G	14	100375705	100375705	T	G	EML1	c.1185T>G	NM_001008707.1	NP_001008707.1:p.(Ala395=)	NC_000014.8:g.100375705T>G	(Likely) benign	1 lab	2e11b56980
2:179631362 TTN A>C	2	179631362	179631362	A	C	TTN	c.9472-23T>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179631362A>C	(Likely) benign	1 lab	2e13d81150
12:2775892 CACNA1C C>T	12	2775892	2775892	C	T	CACNA1C	c.4567C>T	NM_000719.7	NP_000710.5:p.(Arg1523Trp)	NC_000012.11:g.2775892C>T	VUS	1 lab	e8c6efcb7b
1:243456418 SDCCAG8 C>T	1	243456418	243456418	C	T	SDCCAG8	c.572C>T	NM_006642.4	NP_006633.1:p.(Thr191Ile)	NC_000001.10:g.243456418C>T	(Likely) benign	1 lab	2e15997609
2:179439587 TTN G>A	2	179439587	179439587	G	A	TTN	c.66349C>T	NM_001256850.1	NP_001243779.1:p.(Pro22117Ser)	NC_000002.11:g.179439587G>A	VUS	1 lab	e8c73e3dd9
2:179616567 TTN C>T	2	179616567	179616567	C	T	TTN	c.10560G>A	NM_133379.4	NP_596870.2:p.(Pro3520=)	NC_000002.11:g.179616567C>T	(Likely) benign	1 lab	2e18c5c7dc
7:4821389 AP5Z1 G>A	7	4821389	4821389	G	A	AP5Z1	c.366+4G>A	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4821389G>A	(Likely) benign	1 lab	2e196b4181
8:145739847 RECQL4 T>C	8	145739847	145739847	T	C	RECQL4	c.1683A>G	NM_004260.3	NP_004251.3:p.(Gln561=)	NC_000008.10:g.145739847T>C	(Likely) benign	1 lab	2e1c5b00d6
11:20948870 NELL1 C>A	11	20948870	20948870	C	A	NELL1	c.860C>A	NM_001288713.1	NP_001275642.1:p.(Thr287Lys)	NC_000011.9:g.20948870C>A	VUS	1 lab	2e1cbe8f74
8:100847888 VPS13B A>C	8	100847888	100847888	A	C	VPS13B	c.9939A>C	NM_017890.4	NP_060360.3:p.(Leu3313=)	NC_000008.10:g.100847888A>C	(Likely) benign	1 lab	2e1cd282a2
12:5155042 KCNA5 C>T	12	5155042	5155042	C	T	KCNA5	c.1729C>T	NM_002234.3	NP_002225.2:p.(Arg577Ter)	NC_000012.11:g.5155042C>T	VUS	1 lab	2e1d0b137a
5:146775188 DPYSL3 G>A	5	146775188	146775188	G	A	DPYSL3	c.1900C>T	NM_001197294.2	NP_001184223.1:p.(Arg634Trp)	NC_000005.9:g.146775188G>A	VUS	1 lab	2e1f729d39
14:73640386 PSEN1 G>A	14	73640386	73640386	G	A	PSEN1	c.451G>A	NM_000021.3	NP_000012.1:p.(Val151Met)	NC_000014.8:g.73640386G>A	VUS	1 lab	2e22c1a647
6:129691106 LAMA2 G>A	6	129691106	129691106	G	A	LAMA2	c.4930G>A	NM_000426.3	NP_000417.2:p.(Val1644Met)	NC_000006.11:g.129691106G>A	VUS	1 lab	2e23ae1c31
17:11797733 DNAH9 T>A	17	11797733	11797733	T	A	DNAH9	c.11326T>A	NM_001372.3	NP_001363.2:p.(Phe3776Ile)	NC_000017.10:g.11797733T>A	VUS	1 lab	2e24037824
6:41877240 MED20 A>T	6	41877240	41877240	A	T	MED20	c.4T>A	NM_001305456.1	NP_001292385.1:p.(Tyr2Asn)	NC_000006.11:g.41877240A>T	VUS	1 lab	2e257bcdd9
18:43438749 EPG5 TA>T	18	43438749	43438751	TA	T	EPG5	c.7010-3del	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43438751del	(Likely) pathogenic	1 lab	2e284a9930
16:70902514 HYDIN C>T	16	70902514	70902514	C	T	HYDIN	c.11269G>A	NM_001270974.2	NP_001257903.1:p.(Val3757Ile)	NC_000016.9:g.70902514C>T	VUS	1 lab	2e28e44eaf
8:145018011 PLEC G>A	8	145018011	145018011	G	A	PLEC	c.48C>T	NM_201382.3	NP_958784.1:p.(His16=)	NC_000008.10:g.145018011G>A	(Likely) benign	1 lab	2e29a284aa
6:146351277 GRM1 C>T	6	146351277	146351277	C	T	GRM1	c.624C>T	NM_001278064.1	NP_001264993.1:p.(Asp208=)	NC_000006.11:g.146351277C>T	(Likely) benign	1 lab	2e2bd3c812
3:89521663 EPHA3 C>T	3	89521663	89521663	C	T	EPHA3	c.2740C>T	NM_005233.5	NP_005224.2:p.(Arg914Cys)	NC_000003.11:g.89521663C>T	VUS	1 lab	2e327580fe
8:144801533 MAPK15 T>C	8	144801533	144801533	T	C	MAPK15	c.602T>C	NM_139021.3	NP_620590.2:p.(Met201Thr)	NC_000008.10:g.144801533T>C	VUS	1 lab	2e33ce99d2
13:103249526 TPP2 G>A	13	103249526	103249526	G	A	TPP2	c.138G>A	NM_003291.4	NP_003282.2:p.(Gly46=)	NC_000013.10:g.103249526G>A	(Likely) benign	1 lab	2e346fa984
2:21265232 APOB C>T	2	21265232	21265232	C	T	APOB	c.237+1G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265232C>T	(Likely) pathogenic	1 lab	2d673b0925
X:150908126 CNGA2 G>A	X	150908126	150908126	G	A	CNGA2	c.296G>A	NM_005140.1	NP_005131.1:p.(Arg99His)	NC_000023.10:g.150908126G>A	(Likely) benign	1 lab	2e386c2e9e
7:4825149 AP5Z1 G>A	7	4825149	4825149	G	A	AP5Z1	c.970-4G>A	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4825149G>A	(Likely) benign	1 lab	2e38c4daf7
20:37267915 ARHGAP40 A>C	20	37267915	37267915	A	C	ARHGAP40	c.1162A>C	NM_001164431.1	NP_001157903.1:p.(Ser388Arg)	NC_000020.10:g.37267915A>C	(Likely) benign	1 lab	2e39eacd0c
3:53804531 CACNA1D G>C	3	53804531	53804531	G	C	CACNA1D	c.4056G>C	NM_000720.3	NP_000711.1:p.(Arg1352Ser)	NC_000003.11:g.53804531G>C	VUS	1 lab	2e3a5ec59f
7:2579463 BRAT1 G>A	7	2579463	2579463	G	A	BRAT1	c.1455C>T	NM_152743.3	NP_689956.2:p.(Pro485=)	NC_000007.13:g.2579463G>A	(Likely) benign	1 lab	2e3d105826
4:95583596 PDLIM5 A>T	4	95583596	95583596	A	T	PDLIM5	c.1696A>T	NM_001256426.1	NP_001243355.1:p.(Ile566Leu)	NC_000004.11:g.95583596A>T	(Likely) benign	1 lab	2e3d9c5793
11:78614414 TENM4 C>G	11	78614414	78614414	C	G	TENM4	c.648G>C	NM_001098816.2	NP_001092286.2:p.(Thr216=)	NC_000011.9:g.78614414C>G	(Likely) benign	1 lab	2e3fcb84d0
2:179431634 TTN G>A	2	179431634	179431634	G	A	TTN	c.79225C>T	NM_001267550.2	NP_001254479.2:p.(Arg26409Cys)	NC_000002.11:g.179431634G>A	VUS	1 lab	e8d4af8c9f
10:134692986 CFAP46 C>T	10	134692986	134692986	C	T	CFAP46	c.3949G>A	NM_001200049.3	NP_001186978.2:p.(Glu1317Lys)	NC_000010.10:g.134692986C>T	(Likely) benign	1 lab	2e411ef2d9
7:117232272 CFTR AA>G	7	117232272	117232273	AA	G	CFTR	c.2051_2052delinsG	NM_000492.3	NP_000483.3:p.(Lys684SerfsTer38)	NC_000007.13:g.117232272_117232273delinsG	(Likely) pathogenic	1 lab	2e4246e1b3
2:210560519 MAP2 GAT>G	2	210560519	210560525	GAT	G	MAP2	c.3630_3631del	NM_001375505.1	NP_001362434.1:p.(Ser1211HisfsTer5)	NC_000002.11:g.210560524_210560525del	VUS	1 lab	2e429fcd4c
9:35657857 RMRP T>C	9	35657857	35657857	T	C	RMRP	n.159A>G	NR_003051.3		NC_000009.11:g.35657857T>C	VUS	1 lab	344ac6b4f2
11:103006542 DYNC2H1 T>C	11	103006542	103006542	T	C	DYNC2H1	c.2439T>C	NM_001080463.1	NP_001073932.1:p.(Phe813=)	NC_000011.9:g.103006542T>C	(Likely) benign	1 lab	2e4467791d
12:40716953 LRRK2 A>G	12	40716953	40716953	A	G	LRRK2	c.5510-9A>G	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40716953A>G	(Likely) benign	1 lab	2e45641415
11:17419981 ABCC8 C>T	11	17419981	17419981	C	T	ABCC8	c.3724G>A	NM_001351295.1	NP_001338224.1:p.(Ala1242Thr)	NC_000011.9:g.17419981C>T	(Likely) benign	1 lab	2e45ac3be4
12:100656131 DEPDC4 A>G	12	100656131	100656131	A	G	DEPDC4	c.611T>C	NM_152317.3	NP_689530.1:p.(Ile204Thr)	NC_000012.11:g.100656131A>G	VUS	1 lab	2e45e7f7dc
15:44865824 SPG11 C>G	15	44865824	44865824	C	G	SPG11	c.6126G>C	NM_025137.3	NP_079413.3:p.(Gln2042His)	NC_000015.9:g.44865824C>G	VUS	1 lab	2e494eded7
5:176830570 F12 G>A	5	176830570	176830570	G	A	F12	c.1299C>T	NM_000505.3	NP_000496.2:p.(Asn433=)	NC_000005.9:g.176830570G>A	(Likely) benign	1 lab	2e49fca8c7
7:42116386 GLI3 G>C	7	42116386	42116386	G	C	GLI3	c.438C>G	NM_000168.5	NP_000159.3:p.(Tyr146Ter)	NC_000007.13:g.42116386G>C	(Likely) pathogenic	1 lab	2e58b4648e
19:1619138 TCF3 G>T	19	1619138	1619138	G	T	TCF3	c.1422C>A	NM_003200.5	NP_003191.1:p.(Asp474Glu)	NC_000019.9:g.1619138G>T	VUS	1 lab	2e4ba9c969
16:23716289 ERN2 C>T	16	23716289	23716289	C	T	ERN2	c.769G>A	NM_001308220.1	NP_001295149.2:p.(Ala257Thr)	NC_000016.9:g.23716289C>T	(Likely) benign	1 lab	2e4cd3deab
1:186105795 HMCN1 C>T	1	186105795	186105795	C	T	HMCN1	c.13313-5C>T	NM_031935.2	NP_114141.2:p.?	NC_000001.10:g.186105795C>T	(Likely) benign	1 lab	2e4d629223
8:145541070 DGAT1 C>T	8	145541070	145541070	C	T	DGAT1	c.1020G>A	NM_012079.5	NP_036211.2:p.(Trp340Ter)	NC_000008.10:g.145541070C>T	(Likely) pathogenic	1 lab	2e4fc56594
11:121032853 TECTA C>T	11	121032853	121032853	C	T	TECTA	c.5046C>T	NM_005422.2	NP_005413.2:p.(Ile1682=)	NC_000011.9:g.121032853C>T	(Likely) benign	1 lab	2e50a47af7
X:41045835 USP9X A>G	X	41045835	41045835	A	G	USP9X	c.3624A>G	NM_001039591.3	NP_001034680.2:p.(Pro1208=)	NC_000023.10:g.41045835A>G	(Likely) benign	1 lab	2e54a244d6
5:96098026 CAST C>T	5	96098026	96098026	C	T	CAST	c.1882C>T	NM_001750.6	NP_001741.4:p.(Gln628Ter)	NC_000005.9:g.96098026C>T	(Likely) pathogenic	1 lab	2e55aeeec8
4:39226590 WDR19 C>T	4	39226590	39226590	C	T	WDR19	c.1566C>T	NM_025132.3	NP_079408.3:p.(Pro522=)	NC_000004.11:g.39226590C>T	(Likely) benign	1 lab	2e562ae1fd
19:7152884 INSR T>C	19	7152884	7152884	T	C	INSR	c.2084A>G	NM_000208.3	NP_000199.2:p.(Gln695Arg)	NC_000019.9:g.7152884T>C	(Likely) benign	1 lab	2e57bb579e
17:29554539 NF1 A>T	17	29554539	29554539	A	T	NF1	c.2326-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554539A>T	(Likely) pathogenic	1 lab	2e586f74e8
18:56247567 ALPK2 A>G	18	56247567	56247567	A	G	ALPK2	c.441T>C	NM_052947.4	NP_443179.3:p.(Tyr147=)	NC_000018.9:g.56247567A>G	(Likely) benign	1 lab	2e59067ff1
6:152454484 SYNE1 T>G	6	152454484	152454484	T	G	SYNE1	c.25928A>C	NM_182961.3	NP_892006.3:p.(Lys8643Thr)	NC_000006.11:g.152454484T>G	VUS	1 lab	2e5b85ac14
10:73406242 CDH23 C>T	10	73406242	73406242	C	T	CDH23	c.1317C>T	NM_022124.5	NP_071407.4:p.(Asp439=)	NC_000010.10:g.73406242C>T	(Likely) benign	1 lab	2e5d1c6502
11:22248952 ANO5 T>C	11	22248952	22248952	T	C	ANO5	c.468T>C	NM_213599.2	NP_998764.1:p.(Ser156=)	NC_000011.9:g.22248952T>C	(Likely) benign	1 lab	2e5ffc94c3
17:29548876 NF1 G>A	17	29548876	29548876	G	A	NF1	c.1650G>A	NM_000267.3	NP_000258.1:p.(Leu550=)	NC_000017.10:g.29548876G>A	(Likely) benign	1 lab	2e60212054
14:76243131 TTLL5 TGAGGAAGAA>T	14	76243131	76243148	TGAGGAAGAA	T	TTLL5	c.2334_2342del	NM_015072.5	NP_055887.3:p.(Glu778_Glu780del)	NC_000014.8:g.76243140_76243148del	VUS	1 lab	2e60617047
1:237527679 RYR2 C>T	1	237527679	237527679	C	T	RYR2	c.309+7C>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237527679C>T	(Likely) benign	1 lab	2e647cf65e
16:88504944 ZNF469 C>T	16	88504944	88504944	C	T	ZNF469				NC_000016.9:g.88504944C>T	(Likely) benign	1 lab	2e6580ea89
X:9716666 GPR143 T>C	X	9716666	9716666	T	C	GPR143	c.496A>G	NM_000273.2	NP_000264.2:p.(Thr166Ala)	NC_000023.10:g.9716666T>C	(Likely) benign	1 lab	2e66fa4306
6:170176775 ERMARD C>T	6	170176775	170176775	C	T	ERMARD	c.1739+6C>T	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170176775C>T	(Likely) benign	1 lab	2e6802fe66
1:245027126 HNRNPU G>A	1	245027126	245027126	G	A	HNRNPU	c.484C>T	NM_031844.3	NP_114032.2:p.(Gln162Ter)	NC_000001.10:g.245027126G>A	(Likely) pathogenic	1 lab	e8d90d7991
2:179427661 TTN A>G	2	179427661	179427661	A	G	TTN	c.83198T>C	NM_001267550.1	NP_001254479.1:p.(Ile27733Thr)	NC_000002.11:g.179427661A>G	(Likely) benign	1 lab	2e6afd753d
1:171605765 MYOC C>T	1	171605765	171605765	C	T	MYOC	c.815G>A	NM_000261.1	NP_000252.1:p.(Arg272Gln)	NC_000001.10:g.171605765C>T	VUS	1 lab	2e6ee2a374
17:29557926 NF1 T>G	17	29557926	29557926	T	G	NF1	c.3180T>G	NM_000267.3	NP_000258.1:p.(Asp1060Glu)	NC_000017.10:g.29557926T>G	VUS	1 lab	2e70dff337
X:49173681 GAGE10 C>T	X	49173681	49173681	C	T	GAGE10	c.242C>T	NM_001098413.3	NP_001091883.3:p.(Pro81Leu)	NC_000023.10:g.49173681C>T	(Likely) benign	1 lab	2e71cf5a33
5:90077345 ADGRV1 A>G	5	90077345	90077345	A	G	ADGRV1	c.13181A>G	NM_032119.4	NP_115495.3:p.(Asp4394Gly)	NC_000005.9:g.90077345A>G	VUS	1 lab	2e7322ab06
17:29533275 NF1 G>A	17	29533275	29533275	G	A	NF1	c.1278G>A	NM_000267.3	NP_000258.1:p.(Trp426Ter)	NC_000017.10:g.29533275G>A	(Likely) pathogenic	1 lab	2e758e7126
17:29665083 NF1 CTTG>C	17	29665083	29665090	CTTG	C	NF1	c.6750_6752del	NM_001042492.3	NP_001035957.1:p.(Val2251del)	NC_000017.10:g.29665088_29665090del	VUS	1 lab	2e75fa5fa7
19:10132069 RDH8 G>A	19	10132069	10132069	G	A	RDH8				NC_000019.9:g.10132069G>A	(Likely) benign	1 lab	2e79d0d634
5:37064850 NIPBL CA>C	5	37064850	37064853	CA	C	NIPBL	c.8274del	NM_133433.4	NP_597677.2:p.(Lys2758AsnfsTer6)	NC_000005.9:g.37064853del	VUS	1 lab	2e7acfe721
1:180849426 XPR1 G>A	1	180849426	180849426	G	A	XPR1	c.2023G>A	NM_004736.3	NP_004727.2:p.(Ala675Thr)	NC_000001.10:g.180849426G>A	(Likely) benign	1 lab	2e7b4eafb0
22:41973406 PMM1 A>G	22	41973406	41973406	A	G	PMM1	c.705T>C	NM_002676.3	NP_002667.2:p.(Thr235=)	NC_000022.10:g.41973406A>G	(Likely) benign	1 lab	2e7c114fbd
22:42463813 NAGA C>T	22	42463813	42463813	C	T	NAGA	c.280G>A	NM_000262.2	NP_000253.1:p.(Asp94Asn)	NC_000022.10:g.42463813C>T	(Likely) benign	1 lab	2e7e1ddf6f
X:1742049 ASMT C>T	X	1742049	1742049	C	T	ASMT	c.87C>T	NM_004043.2	NP_004034.2:p.(Cys29=)	NC_000023.10:g.1742049C>T	(Likely) benign	1 lab	2e7e68ca4b
19:8994202 MUC16 G>A	19	8994202	8994202	G	A	MUC16	c.41483C>T	NM_024690.2	NP_078966.2:p.(Pro13828Leu)	NC_000019.9:g.8994202G>A	VUS	1 lab	2e802f6cf1
3:64004515 PSMD6 T>G	3	64004515	64004515	T	G	PSMD6	c.855A>C	NM_001271779.1	NP_001258708.1:p.(Glu285Asp)	NC_000003.11:g.64004515T>G	(Likely) benign	1 lab	2e80f038be
22:38121079 TRIOBP C>G	22	38121079	38121079	C	G	TRIOBP	c.2516C>G	NM_001039141.2	NP_001034230.1:p.(Thr839Ser)	NC_000022.10:g.38121079C>G	(Likely) benign	1 lab	2e8124038e
X:56296624 KLF8 A>G	X	56296624	56296624	A	G	KLF8	c.768A>G	NM_007250.5	NP_009181.2:p.(Ala256=)	NC_000023.10:g.56296624A>G	(Likely) benign	1 lab	2e8216afd9
9:18681930 ADAMTSL1 G>A	9	18681930	18681930	G	A	ADAMTSL1	c.1462G>A	NM_001040272.6	NP_001035362.3:p.(Val488Ile)	NC_000009.11:g.18681930G>A	(Likely) benign	1 lab	2e82c7316d
X:69645621 GDPD2 T>G	X	69645621	69645621	T	G	GDPD2	c.218T>G	NM_001171192.1	NP_001164663.1:p.(Phe73Cys)	NC_000023.10:g.69645621T>G	(Likely) benign	1 lab	2e83aa9e2c
20:44048783 PIGT G>A	20	44048783	44048783	G	A	PIGT	c.689G>A	NM_015937.5	NP_057021.2:p.(Arg230His)	NC_000020.10:g.44048783G>A	(Likely) benign	1 lab	2e84747be2
X:17394070 NHS C>T	X	17394070	17394070	C	T	NHS	c.190C>T	NM_001291867.1	NP_001278796.1:p.(Pro64Ser)	NC_000023.10:g.17394070C>T	VUS	1 lab	2e848ba7df
16:84209688 DNAAF1 G>A	16	84209688	84209688	G	A	DNAAF1	c.1848G>A	NM_178452.5	NP_848547.4:p.(Ala616=)	NC_000016.9:g.84209688G>A	(Likely) benign	1 lab	2e84fd738e
7:100685166 MUC17 C>T	7	100685166	100685166	C	T	MUC17	c.10469C>T	NM_001040105.1	NP_001035194.1:p.(Thr3490Ile)	NC_000007.13:g.100685166C>T	(Likely) benign	1 lab	2e856ba560
3:48630811 COL7A1 C>CT	3	48630811	48630812	C	CT	COL7A1	c.497dup	NM_000094.4	NP_000085.1:p.(Val168GlyfsTer12)	NC_000003.11:g.48630812dup	(Likely) pathogenic	1 lab	e8d9a76826
1:171605813 MYOC G>A	1	171605813	171605813	G	A	MYOC	c.767C>T	NM_000261.1	NP_000252.1:p.(Thr256Met)	NC_000001.10:g.171605813G>A	(Likely) benign	1 lab	2e867b0610
3:50231579 GNAT1 C>T	3	50231579	50231579	C	T	GNAT1	c.633C>T	NM_144499.2	NP_653082.1:p.(Phe211=)	NC_000003.11:g.50231579C>T	(Likely) benign	1 lab	2e867d74af
22:38121487 TRIOBP G>A	22	38121487	38121487	G	A	TRIOBP	c.2924G>A	NM_001039141.2	NP_001034230.1:p.(Arg975Gln)	NC_000022.10:g.38121487G>A	(Likely) benign	1 lab	2e86bc39cd
13:23909670 SACS G>A	13	23909670	23909670	G	A	SACS	c.8345C>T	NM_014363.5	NP_055178.3:p.(Ala2782Val)	NC_000013.10:g.23909670G>A	(Likely) benign	1 lab	2e8817071b
X:7171283 STS G>A	X	7171283	7171283	G	A	STS	c.58G>A	NM_000351.5	NP_000342.2:p.(Glu20Lys)	NC_000023.10:g.7171283G>A	(Likely) benign	1 lab	2e8ab6108a
8:100733286 VPS13B A>G	8	100733286	100733286	A	G	VPS13B	c.7125+11A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100733286A>G	(Likely) benign	1 lab	2e8ac6f973
3:87313625 POU1F1 G>A	3	87313625	87313625	G	A	POU1F1	c.330C>T	NM_001122757.2	NP_001116229.1:p.(His110=)	NC_000003.11:g.87313625G>A	(Likely) benign	1 lab	2e8b873303
17:29550494 NF1 T>G	17	29550494	29550494	T	G	NF1	c.1754T>G	NM_000267.3	NP_000258.1:p.(Leu585Ter)	NC_000017.10:g.29550494T>G	(Likely) pathogenic	1 lab	2e8c441402
22:38120495 TRIOBP A>G	22	38120495	38120495	A	G	TRIOBP	c.1932A>G	NM_001039141.2	NP_001034230.1:p.(Gln644=)	NC_000022.10:g.38120495A>G	(Likely) benign	1 lab	2e9110a031
X:18662742 RS1 A>G	X	18662742	18662742	A	G	RS1	c.330T>C	NM_000330.4	NP_000321.1:p.(Cys110=)	NC_000023.10:g.18662742A>G	(Likely) benign	1 lab	e8de239ddb
10:27403522 YME1L1 G>C	10	27403522	27403522	G	C	YME1L1	c.2106C>G	NM_139312.2	NP_647473.1:p.(Thr702=)	NC_000010.10:g.27403522G>C	(Likely) benign	1 lab	2e944182fc
17:29562994 NF1 C>TT	17	29562994	29562994	C	TT	NF1	c.3929delinsTT	NM_000267.3	NP_000258.1:p.(Thr1310IlefsTer4)	NC_000017.10:g.29562994delinsTT	(Likely) pathogenic	1 lab	2e94cecc77
X:154113328 H2AB1 C>T	X	154113328	154113328	C	T	H2AB1	c.4C>T	NM_001017990.1	NP_001017990.1:p.(Pro2Ser)	NC_000023.10:g.154113328C>T	VUS	1 lab	2e94e9bbcb
X:49142468 PPP1R3F C>T	X	49142468	49142468	C	T	PPP1R3F	c.1316C>T	NM_033215.4	NP_149992.3:p.(Ala439Val)	NC_000023.10:g.49142468C>T	(Likely) benign	1 lab	2e95aad3eb
8:144991206 PLEC G>A	8	144991206	144991206	G	A	PLEC	c.13194C>T	NM_201380.3	NP_958782.1:p.(Ala4398=)	NC_000008.10:g.144991206G>A	(Likely) benign	1 lab	2e9607416a
15:74488344 STRA6 G>A	15	74488344	74488344	G	A	STRA6	c.523+5C>T	NM_001199042.1	NP_001185971.1:p.?	NC_000015.9:g.74488344G>A	(Likely) benign	1 lab	2e9697dda5
1:2422628 PLCH2 C>T	1	2422628	2422628	C	T	PLCH2	c.1516-3C>T	NM_014638.4	NP_055453.2:p.?	NC_000001.10:g.2422628C>T	(Likely) benign	1 lab	2e99483924
5:68849459 OCLN C>G	5	68849459	68849459	C	G	OCLN	c.1530C>G	NM_002538.3	NP_002529.1:p.(Ile510Met)	NC_000005.9:g.68849459C>G	VUS	1 lab	2e99cb8abc
13:26620783 SHISA2 C>T	13	26620783	26620783	C	T	SHISA2	c.756G>A	NM_001007538.1	NP_001007539.1:p.(Val252=)	NC_000013.10:g.26620783C>T	(Likely) benign	1 lab	2e9aec4dca
1:237765370 RYR2 A>G	1	237765370	237765370	A	G	RYR2	c.4642A>G	NM_001035.2	NP_001026.2:p.(Thr1548Ala)	NC_000001.10:g.237765370A>G	VUS	1 lab	2e9bca665c
2:167144995 SCN9A T>C	2	167144995	167144995	T	C	SCN9A	c.1266A>G	NM_002977.3	NP_002968.1:p.(Glu422=)	NC_000002.11:g.167144995T>C	(Likely) benign	1 lab	e8e3c308f7
X:101912505 GPRASP1 C>T	X	101912505	101912505	C	T	GPRASP1	c.3664C>T	NM_001184727.1	NP_001171656.1:p.(Arg1222Cys)	NC_000023.10:g.101912505C>T	VUS	1 lab	2ea31bca7a
18:67691962 RTTN TGGAA>T	18	67691962	67691966	TGGAA	T	RTTN	c.5942_5945del	NM_173630.4	NP_775901.3:p.(Phe1981Ter)	NC_000018.9:g.67691963_67691966del	(Likely) pathogenic	1 lab	2ea4375585
9:95228790 ASPN T>C	9	95228790	95228790	T	C	ASPN	c.448A>G	NM_017680.5	NP_060150.4:p.(Lys150Glu)	NC_000009.11:g.95228790T>C	VUS	1 lab	2ea589aae1
2:48026367 MSH6 G>A	2	48026367	48026367	G	A	MSH6	c.1245G>A	NM_000179.2	NP_000170.1:p.(Gln415=)	NC_000002.11:g.48026367G>A	(Likely) benign	1 lab	2ea5915326
11:55371681 OR4C11 T>C	11	55371681	55371681	T	C	OR4C11	c.169A>G	NM_001004700.2	NP_001004700.2:p.(Met57Val)	NC_000011.9:g.55371681T>C	(Likely) benign	1 lab	2ea6aaf34c
17:28296269 EFCAB5 T>G	17	28296269	28296269	T	G	EFCAB5	c.651T>G	NM_198529.3	NP_940931.2:p.(Tyr217Ter)	NC_000017.10:g.28296269T>G	VUS	1 lab	2ea7a8406b
6:137041720 MAP3K5 C>T	6	137041720	137041720	C	T	MAP3K5	c.456G>A	NM_005923.3	NP_005914.1:p.(Ala152=)	NC_000006.11:g.137041720C>T	(Likely) benign	1 lab	2ea8e9853f
15:45387755 DUOX2 C>A	15	45387755	45387755	C	A	DUOX2	c.4119G>T	NM_014080.4	NP_054799.4:p.(Glu1373Asp)	NC_000015.9:g.45387755C>A	(Likely) benign	1 lab	2eaaef75b7
1:115222945 AMPD1 G>T	1	115222945	115222945	G	T	AMPD1	c.801C>A	NM_000036.2	NP_000027.2:p.(Tyr267Ter)	NC_000001.10:g.115222945G>T	(Likely) pathogenic	1 lab	2eab22b687
22:29445901 ZNRF3 G>A	22	29445901	29445901	G	A	ZNRF3	c.1732G>A	NM_001206998.2	NP_001193927.1:p.(Gly578Ser)	NC_000022.10:g.29445901G>A	VUS	1 lab	e8e7edde6d
14:105409945 AHNAK2 G>A	14	105409945	105409945	G	A	AHNAK2	c.11843C>T	NM_138420.3	NP_612429.2:p.(Ala3948Val)	NC_000014.8:g.105409945G>A	VUS	1 lab	2eae64a213
7:148876285 ZNF398 C>T	7	148876285	148876285	C	T	ZNF398	c.808C>T	NM_020781.3	NP_065832.1:p.(Arg270Ter)	NC_000007.13:g.148876285C>T	VUS	1 lab	2eaf184776
6:37617979 MDGA1 G>T	6	37617979	37617979	G	T	MDGA1	c.1515C>A	NM_153487.3	NP_705691.1:p.(Ser505Arg)	NC_000006.11:g.37617979G>T	VUS	1 lab	2eaf501699
X:24380945 SUPT20HL1 C>G	X	24380945	24380945	C	G	SUPT20HL1	c.146C>G	NM_001136234.2	NP_001129706.2:p.(Pro49Arg)	NC_000023.10:g.24380945C>G	(Likely) benign	1 lab	2eafe7d65e
19:41114407 LTBP4 C>T	19	41114407	41114407	C	T	LTBP4	c.1525C>T	NM_001042544.1	NP_001036009.1:p.(Arg509Cys)	NC_000019.9:g.41114407C>T	VUS	1 lab	2eb0ade36a
12:48372442 COL2A1 C>T	12	48372442	48372442	C	T	COL2A1	c.2833G>A	NM_001844.5	NP_001835.3:p.(Gly945Ser)	NC_000012.11:g.48372442C>T	(Likely) pathogenic	1 lab	e8e9de693b
17:72745113 NHERF1 A>C	17	72745113	72745113	A	C	NHERF1	c.128A>C	NM_004252.5	NP_004243.1:p.(Glu43Ala)	NC_000017.10:g.72745113A>C	VUS	1 lab	e8ed689164
3:114058008 ZBTB20 G>T	3	114058008	114058008	G	T	ZBTB20	c.2070C>A	NM_001348803.1	NP_001335732.1:p.(Thr690=)	NC_000003.11:g.114058008G>T	(Likely) benign	1 lab	2eb1b460e5
3:41278103 CTNNB1 TC>T	3	41278103	41278105	TC	T	CTNNB1	c.1981del	NM_001904.4	NP_001895.1:p.(Arg661GlufsTer18)	NC_000003.11:g.41278105del	(Likely) pathogenic	1 lab	2eb32574bf
12:52908776 KRT5 C>T	12	52908776	52908776	C	T	KRT5	c.1723G>A	NM_000424.4	NP_000415.2:p.(Val575Ile)	NC_000012.11:g.52908776C>T	VUS	1 lab	e8ee647faf
1:152284902 FLG G>C	1	152284902	152284902	G	C	FLG	c.2460C>G	NM_002016.1	NP_002007.1:p.(Ser820=)	NC_000001.10:g.152284902G>C	(Likely) benign	1 lab	2eb4557c1b
X:50377715 SHROOM4 C>T	X	50377715	50377715	C	T	SHROOM4	c.1358G>A	NM_020717.4	NP_065768.2:p.(Ser453Asn)	NC_000023.10:g.50377715C>T	(Likely) benign	1 lab	e8f108819b
10:134599389 NKX6-2 T>G	10	134599389	134599389	T	G	NKX6-2	c.64A>C	NM_177400.3	NP_796374.2:p.(Met22Leu)	NC_000010.10:g.134599389T>G	(Likely) benign	1 lab	2eb6309c50
14:100331926 EML1 G>A	14	100331926	100331926	G	A	EML1	c.326G>A	NM_001008707.1	NP_001008707.1:p.(Gly109Asp)	NC_000014.8:g.100331926G>A	(Likely) benign	1 lab	2eb69fd466
16:50784062 CYLD CCT>C	16	50784062	50784064	CCT	C	CYLD	c.454_455del	NM_001378743.1	NP_001365672.1:p.(Leu152ValfsTer14)	NC_000016.9:g.50784063_50784064del	(Likely) pathogenic	1 lab	2eb6be3519
4:22390174 ADGRA3 C>T	4	22390174	22390174	C	T	ADGRA3	c.3120G>A	NM_145290.3	NP_660333.2:p.(Ala1040=)	NC_000004.11:g.22390174C>T	(Likely) benign	1 lab	2eb71f9de5
2:179446367 TTN G>A	2	179446367	179446367	G	A	TTN	c.66628C>T	NM_001267550.1	NP_001254479.1:p.(Gln22210Ter)	NC_000002.11:g.179446367G>A	(Likely) pathogenic	1 lab	2eb744320c
9:135800973 TSC1 C>A	9	135800973	135800973	C	A	TSC1	c.363+1G>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135800973C>A	(Likely) pathogenic	1 lab	2eb7e41602
19:38655332 SIPA1L3 G>A	19	38655332	38655332	G	A	SIPA1L3	c.3994G>A	NM_015073.2	NP_055888.1:p.(Ala1332Thr)	NC_000019.9:g.38655332G>A	(Likely) benign	1 lab	2eb866528c
17:78086403 GAA G>A	17	78086403	78086403	G	A	GAA	c.1781G>A	NM_000152.3	NP_000143.2:p.(Arg594His)	NC_000017.10:g.78086403G>A	(Likely) pathogenic	1 lab	2eb9cf1682
3:51378788 DOCK3 A>G	3	51378788	51378788	A	G	DOCK3	c.3887A>G	NM_004947.4	NP_004938.1:p.(Lys1296Arg)	NC_000003.11:g.51378788A>G	VUS	1 lab	2eba1e4c03
2:238461086 MLPH GT>G	2	238461086	238461090	GT	G	MLPH	c.1776+10del	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238461090del	(Likely) benign	1 lab	2ebb014731
15:35082730 ACTC1 G>T	15	35082730	35082730	G	T	ACTC1	c.1017C>A	NM_005159.4	NP_005150.1:p.(Tyr339Ter)	NC_000015.9:g.35082730G>T	VUS	1 lab	2ebc224f58
4:187112985 CYP4V2 G>A	4	187112985	187112985	G	A	CYP4V2	c.8G>A	NM_207352.3	NP_997235.3:p.(Gly3Glu)	NC_000004.11:g.187112985G>A	(Likely) benign	1 lab	2ebc5d95c6
X:153046972 SRPK3 C>T	X	153046972	153046972	C	T	SRPK3	c.203C>T	NM_014370.3	NP_055185.2:p.(Pro68Leu)	NC_000023.10:g.153046972C>T	VUS	1 lab	2ebda60f5d
X:53350108 IQSEC2 G>A	X	53350108	53350108	G	A	IQSEC2	c.214C>T	NM_001111125.2	NP_001104595.1:p.(Leu72=)	NC_000023.10:g.53350108G>A	(Likely) benign	1 lab	2ebebe8b9a
1:47882606 FOXE3 G>A	1	47882606	47882606	G	A	FOXE3	c.619G>A	NM_012186.2	NP_036318.1:p.(Gly207Arg)	NC_000001.10:g.47882606G>A	(Likely) benign	1 lab	2ebf55bf66
21:47851779 PCNT G>C	21	47851779	47851779	G	C	PCNT	c.8401G>C	NM_006031.5	NP_006022.3:p.(Val2801Leu)	NC_000021.8:g.47851779G>C	(Likely) benign	1 lab	2ec013eaf3
17:70117961 SOX9 G>T	17	70117961	70117961	G	T	SOX9	c.429G>T	NM_000346.3	NP_000337.1:p.(Trp143Cys)	NC_000017.10:g.70117961G>T	(Likely) pathogenic	1 lab	2ec0247e2b
2:176957659 HOXD13 C>T	2	176957659	176957659	C	T	HOXD13	c.41C>T	NM_000523.3	NP_000514.2:p.(Ala14Val)	NC_000002.11:g.176957659C>T	(Likely) benign	1 lab	2ec095f16b
14:23899843 MYH7 C>T	14	23899843	23899843	C	T	MYH7	c.925G>A	NM_000257.2	NP_000248.2:p.(Asp309Asn)	NC_000014.8:g.23899843C>T	VUS	1 lab	2ec337437c
X:47920269 ZNF630 T>C	X	47920269	47920269	T	C	ZNF630	c.71A>G	NM_001282201.1	NP_001269130.1:p.(Gln24Arg)	NC_000023.10:g.47920269T>C	(Likely) benign	1 lab	2ec38c2cd1
12:120168357 CIT G>A	12	120168357	120168357	G	A	CIT	c.3429C>T	NM_001206999.1	NP_001193928.1:p.(Leu1143=)	NC_000012.11:g.120168357G>A	(Likely) benign	1 lab	2ec3ef1875
1:43829730 ELOVL1 T>C	1	43829730	43829730	T	C	ELOVL1	c.697A>G	NM_001256399.1	NP_001243328.1:p.(Ile233Val)	NC_000001.10:g.43829730T>C	(Likely) benign	1 lab	2ec45e5a72
X:131212142 FRMD7 C>A	X	131212142	131212142	C	A	FRMD7	c.1903G>T	NM_194277.2	NP_919253.1:p.(Val635Phe)	NC_000023.10:g.131212142C>A	(Likely) benign	1 lab	2ec49b5678
20:10639237 JAG1 G>T	20	10639237	10639237	G	T	JAG1	c.573C>A	NM_000214.3	NP_000205.1:p.(Tyr191Ter)	NC_000020.10:g.10639237G>T	(Likely) pathogenic	1 lab	2ec6549b58
X:153002621 ABCD1 G>A	X	153002621	153002621	G	A	ABCD1	c.1404G>A	NM_000033.3	NP_000024.2:p.(Val468=)	NC_000023.10:g.153002621G>A	(Likely) benign	1 lab	2ec66914cf
8:17942281 ASAH1 T>C	8	17942281	17942281	T	C	ASAH1	c.30A>G	NM_004315.5	NP_004306.3:p.(Lys10=)	NC_000008.10:g.17942281T>C	(Likely) benign	1 lab	2ec6a90518
8:100443756 VPS13B C>T	8	100443756	100443756	C	T	VPS13B	c.3083-9C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100443756C>T	(Likely) benign	1 lab	2ec6b02c20
1:43812241 MPL C>T	1	43812241	43812241	C	T	MPL	c.1106C>T	NM_005373.2	NP_005364.1:p.(Thr369Ile)	NC_000001.10:g.43812241C>T	VUS	1 lab	2ec71164b2
9:135778134 TSC1 C>T	9	135778134	135778134	C	T	TSC1	c.2249G>A	NM_000368.4	NP_000359.1:p.(Trp750Ter)	NC_000009.11:g.135778134C>T	(Likely) pathogenic	1 lab	2ec71c75fd
9:140918150 CACNA1B G>A	9	140918150	140918150	G	A	CACNA1B	c.2955G>A	NM_000718.3	NP_000709.1:p.(Ala985=)	NC_000009.11:g.140918150G>A	(Likely) benign	1 lab	2ec7bbbfa9
19:56703240 ZSCAN5B G>A	19	56703240	56703240	G	A	ZSCAN5B	c.567C>T	NM_001080456.2	NP_001073925.2:p.(Val189=)	NC_000019.9:g.56703240G>A	(Likely) benign	1 lab	2ec909405e
21:46876106 COL18A1 C>T	21	46876106	46876106	C	T	COL18A1	c.662C>T	NM_130444.3	NP_569711.2:p.(Ser221Phe)	NC_000021.8:g.46876106C>T	VUS	1 lab	2eca09081e
11:65637635 EFEMP2 G>A	11	65637635	65637635	G	A	EFEMP2	c.564C>T	NM_016938.4	NP_058634.4:p.(Cys188=)	NC_000011.9:g.65637635G>A	(Likely) benign	1 lab	2eca92fd5e
2:238303654 COL6A3 C>T	2	238303654	238303654	C	T	COL6A3	c.285G>A	NM_004369.3	NP_004360.2:p.(Thr95=)	NC_000002.11:g.238303654C>T	(Likely) benign	1 lab	2ecbd5410c
1:152276159 FLG G>C	1	152276159	152276159	G	C	FLG	c.11203C>G	NM_002016.1	NP_002007.1:p.(Gln3735Glu)	NC_000001.10:g.152276159G>C	VUS	1 lab	2eccc8e2b7
3:197417954 RUBCN T>C	3	197417954	197417954	T	C	RUBCN	c.1894A>G	NM_001346873.1	NP_001333802.1:p.(Met632Val)	NC_000003.11:g.197417954T>C	(Likely) benign	1 lab	2eccdfdb2b
1:16358945 CLCNKA TC>T	1	16358945	16358947	TC	T	CLCNKA	c.1855del	NM_004070.4	NP_004061.3:p.(Gln619ArgfsTer13)	NC_000001.10:g.16358947del	(Likely) pathogenic	1 lab	e8f7eae313
6:146755553 GRM1 C>T	6	146755553	146755553	C	T	GRM1	c.3206C>T	NM_001278064.1	NP_001264993.1:p.(Pro1069Leu)	NC_000006.11:g.146755553C>T	(Likely) benign	1 lab	2ece5f8f5c
9:2718338 KCNV2 G>A	9	2718338	2718338	G	A	KCNV2	c.599G>A	NM_133497.3	NP_598004.1:p.(Arg200His)	NC_000009.11:g.2718338G>A	VUS	1 lab	2ecede8087
6:33137644 COL11A2 T>C	6	33137644	33137644	T	C	COL11A2	c.3654A>G	NM_080680.2	NP_542411.2:p.(Ser1218=)	NC_000006.11:g.33137644T>C	(Likely) benign	1 lab	2ed076db8f
21:47848469 PCNT G>A	21	47848469	47848469	G	A	PCNT	c.7655G>A	NM_006031.5	NP_006022.3:p.(Arg2552His)	NC_000021.8:g.47848469G>A	(Likely) benign	1 lab	2ed23d229b
11:102984397 DYNC2H1 C>G	11	102984397	102984397	C	G	DYNC2H1	c.327C>G	NM_001080463.1	NP_001073932.1:p.(Tyr109Ter)	NC_000011.9:g.102984397C>G	(Likely) pathogenic	1 lab	2ed2827c74
15:83527843 HOMER2 G>A	15	83527843	83527843	G	A	HOMER2	c.465C>T	NM_199330.2	NP_955362.1:p.(Ala155=)	NC_000015.9:g.83527843G>A	(Likely) benign	1 lab	2ed3b80a43
16:46695741 VPS35 T>G	16	46695741	46695741	T	G	VPS35	c.2100A>C	NM_018206.5	NP_060676.2:p.(Leu700=)	NC_000016.9:g.46695741T>G	(Likely) benign	1 lab	2ed5ccd791
11:688324 DEAF1 G>A	11	688324	688324	G	A	DEAF1	c.517+7C>T	NM_021008.3	NP_066288.2:p.?	NC_000011.9:g.688324G>A	(Likely) benign	1 lab	2ed698d33b
6:157100259 ARID1B CG>C	6	157100259	157100265	CG	C	ARID1B	c.1451del	NM_001374828.1	NP_001361757.1:p.(Gly484AlafsTer29)	NC_000006.11:g.157100265del	(Likely) pathogenic	1 lab	2ed7364260
22:32871054 FBXO7 C>T	22	32871054	32871054	C	T	FBXO7	c.65C>T	NM_012179.3	NP_036311.3:p.(Thr22Met)	NC_000022.10:g.32871054C>T	(Likely) pathogenic	1 lab	2ed7ecbb7d
7:44578991 NPC1L1 G>T	7	44578991	44578991	G	T	NPC1L1	c.1005C>A	NM_013389.2	NP_037521.2:p.(Thr335=)	NC_000007.13:g.44578991G>T	(Likely) benign	1 lab	2ed8a5d752
5:172659724 NKX2-5 G>T	5	172659724	172659724	G	T	NKX2-5	c.823C>A	NM_004387.3	NP_004378.1:p.(Pro275Thr)	NC_000005.9:g.172659724G>T	VUS	1 lab	2ed9336029
2:179395221 TTN A>T	2	179395221	179395221	A	T	TTN	c.106121T>A	NM_001267550.2	NP_001254479.2:p.(Phe35374Tyr)	NC_000002.11:g.179395221A>T	VUS	1 lab	e8fb92763b
1:155451379 ASH1L C>T	1	155451379	155451379	C	T	ASH1L	c.1282G>A	NM_018489.3	NP_060959.2:p.(Ala428Thr)	NC_000001.10:g.155451379C>T	VUS	1 lab	e8fbfe8737
8:10480582 RP1L1 G>C	8	10480582	10480582	G	C	RP1L1	c.130C>G	NM_178857.5	NP_849188.4:p.(Pro44Ala)	NC_000008.10:g.10480582G>C	(Likely) benign	1 lab	2edf3a111a
9:140115264 RNF208 G>A	9	140115264	140115264	G	A	RNF208	c.401C>T	NM_031297.4	NP_112587.2:p.(Ser134Leu)	NC_000009.11:g.140115264G>A	(Likely) benign	1 lab	2edf53e561
20:2377156 TGM6 C>T	20	2377156	2377156	C	T	TGM6	c.429C>T	NM_198994.2	NP_945345.2:p.(Asp143=)	NC_000020.10:g.2377156C>T	(Likely) benign	1 lab	2edf578225
10:72360170 PRF1 G>A	10	72360170	72360170	G	A	PRF1	c.489C>T	NM_001083116.1	NP_001076585.1:p.(His163=)	NC_000010.10:g.72360170G>A	(Likely) benign	1 lab	2ee1285d9b
20:62076074 KCNQ2 G>A	20	62076074	62076074	G	A	KCNQ2	c.628C>T	NM_172107.3	NP_742105.1:p.(Arg210Cys)	NC_000020.10:g.62076074G>A	(Likely) pathogenic	1 lab	2ee1bcb6cb
1:42922633 PPCS A>T	1	42922633	42922633	A	T	PPCS	c.397A>T	NM_024664.4	NP_078940.2:p.(Arg133Trp)	NC_000001.10:g.42922633A>T	VUS	1 lab	2ee3198ed8
17:29556419 NF1 T>C	17	29556419	29556419	T	C	NF1	c.2786T>C	NM_000267.3	NP_000258.1:p.(Leu929Pro)	NC_000017.10:g.29556419T>C	(Likely) pathogenic	1 lab	2ee33c51ea
1:158644417 SPTA1 G>A	1	158644417	158644417	G	A	SPTA1	c.1161C>T	NM_003126.3	NP_003117.2:p.(Asn387=)	NC_000001.10:g.158644417G>A	(Likely) benign	1 lab	2ee34b5f14
2:179451442 TTN C>T	2	179451442	179451442	C	T	TTN	c.64186G>A	NM_001267550.1	NP_001254479.1:p.(Ala21396Thr)	NC_000002.11:g.179451442C>T	VUS	1 lab	2ee451df9c
2:128036759 ERCC3 G>A	2	128036759	128036759	G	A	ERCC3	c.1528C>T	NM_001303418.2	NP_001290347.1:p.(Arg510Ter)	NC_000002.11:g.128036759G>A	(Likely) pathogenic	1 lab	e8fdfc3f07
6:35477499 TULP1 T>C	6	35477499	35477499	T	C	TULP1	c.630A>G	NM_003322.5	NP_003313.3:p.(Ser210=)	NC_000006.11:g.35477499T>C	(Likely) benign	1 lab	2ee506d214
X:152807350 ATP2B3 G>A	X	152807350	152807350	G	A	ATP2B3	c.630G>A	NM_021949.3	NP_068768.2:p.(Ala210=)	NC_000023.10:g.152807350G>A	(Likely) benign	1 lab	2ee566c1cb
22:21083981 PI4KA T>C	22	21083981	21083981	T	C	PI4KA	c.4427A>G	NM_058004.3	NP_477352.3:p.(Asn1476Ser)	NC_000022.10:g.21083981T>C	(Likely) benign	1 lab	2ee5b00d36
2:27665729 KRTCAP3 G>C	2	27665729	27665729	G	C	KRTCAP3	c.234G>C	NM_001168364.1	NP_001161836.1:p.(Val78=)	NC_000002.11:g.27665729G>C	(Likely) benign	1 lab	2eeb2bb27b
17:29496566 NF1 G>GT	17	29496566	29496571	G	GT	NF1	c.480-338dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29496571dup	(Likely) benign	1 lab	2eebfa25c4
16:2230647 CASKIN1 C>T	16	2230647	2230647	C	T	CASKIN1	c.2722G>A	NM_020764.3	NP_065815.1:p.(Ala908Thr)	NC_000016.9:g.2230647C>T	VUS	1 lab	2eec8641ba
18:21121081 NPC1 T>C	18	21121081	21121081	T	C	NPC1	c.2465A>G	NM_000271.4	NP_000262.2:p.(Lys822Arg)	NC_000018.9:g.21121081T>C	VUS	1 lab	2eecf0bd31
2:169791843 ABCB11 C>T	2	169791843	169791843	C	T	ABCB11	c.2907G>A	NM_003742.4	NP_003733.2:p.(Lys969=)	NC_000002.11:g.169791843C>T	(Likely) benign	1 lab	2eed592835
3:12046108 SYN2 G>A	3	12046108	12046108	G	A	SYN2	c.83G>A	NM_003178.5	NP_003169.2:p.(Arg28Gln)	NC_000003.11:g.12046108G>A	(Likely) benign	1 lab	2eee273891
5:150923186 FAT2 A>G	5	150923186	150923186	A	G	FAT2	c.7502T>C	NM_001447.2	NP_001438.1:p.(Ile2501Thr)	NC_000005.9:g.150923186A>G	VUS	1 lab	2eee4d7b04
12:8988240 A2ML1 T>C	12	8988240	8988240	T	C	A2ML1	c.621T>C	NM_144670.5	NP_653271.2:p.(Gly207=)	NC_000012.11:g.8988240T>C	(Likely) benign	1 lab	2ef1dc6a71
18:21148896 NPC1 ACT>A	18	21148896	21148900	ACT	A	NPC1	c.352_353del	NM_000271.5	NP_000262.2:p.(Gln119ValfsTer8)	NC_000018.9:g.21148899_21148900del	(Likely) pathogenic	1 lab	2ef1dcee3a
3:128363805 RPN1 C>T	3	128363805	128363805	C	T	RPN1	c.283G>A	NM_002950.4	NP_002941.1:p.(Glu95Lys)	NC_000003.11:g.128363805C>T	(Likely) benign	1 lab	2ef1ff551a
15:67457729 SMAD3 A>ACGTGGG	15	67457729	67457737	A	ACGTGGG	SMAD3	c.532+10_532+15dup	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457732_67457737dup	(Likely) benign	1 lab	2ef4fde146
19:4499655 HDGFL2 CGGGG>C	19	4499655	4499659	CGGGG	C	HDGFL2	c.1744_1747del	NM_001001520.3	NP_001001520.1:p.(Gly582ArgfsTer20)	NC_000019.9:g.4499656_4499659del	(Likely) benign	1 lab	2ef508f31f
16:2376239 ABCA3 G>A	16	2376239	2376239	G	A	ABCA3	c.91C>T	NM_001089.2	NP_001080.2:p.(Leu31=)	NC_000016.9:g.2376239G>A	(Likely) benign	1 lab	2ef646f7fb
5:156899405 NIPAL4 C>T	5	156899405	156899405	C	T	NIPAL4	c.838C>T	NM_001099287.1	NP_001092757.1:p.(Arg280Cys)	NC_000005.9:g.156899405C>T	VUS	1 lab	2ef6838492
19:46274887 DMPK T>G	19	46274887	46274887	T	G	DMPK	c.1569A>C	NM_001081563.2	NP_001075032.1:p.(Leu523=)	NC_000019.9:g.46274887T>G	(Likely) benign	1 lab	2ef7498370
X:3030445 ARSF C>T	X	3030445	3030445	C	T	ARSF	c.1621C>T	NM_001201539.1	NP_001188468.1:p.(His541Tyr)	NC_000023.10:g.3030445C>T	VUS	1 lab	2ef7be1594
17:36489869 GPR179 A>G	17	36489869	36489869	A	G	GPR179	c.1837T>C	NM_001004334.3	NP_001004334.3:p.(Phe613Leu)	NC_000017.10:g.36489869A>G	(Likely) benign	1 lab	2ef7bfbeb3
11:126162498 TIRAP C>T	11	126162498	126162498	C	T	TIRAP	c.194C>T	NM_001039661.1	NP_001034750.1:p.(Thr65Met)	NC_000011.9:g.126162498C>T	(Likely) benign	1 lab	2ef8d1b297
1:235872412 LYST C>T	1	235872412	235872412	C	T	LYST	c.10122G>A	NM_001301365.1	NP_001288294.1:p.(Ala3374=)	NC_000001.10:g.235872412C>T	(Likely) benign	1 lab	2ef960735e
4:183658178 TENM3 A>T	4	183658178	183658178	A	T	TENM3	c.3185A>T	NM_001080477.4	NP_001073946.1:p.(Asp1062Val)	NC_000004.11:g.183658178A>T	VUS	1 lab	e9086d3f7e
14:92461754 TRIP11 T>C	14	92461754	92461754	T	C	TRIP11	c.4998A>G	NM_004239.4	NP_004230.2:p.(Val1666=)	NC_000014.8:g.92461754T>C	(Likely) benign	1 lab	2efab2f467
14:102452915 DYNC1H1 G>A	14	102452915	102452915	G	A	DYNC1H1	c.2353G>A	NM_001376.5	NP_001367.2:p.(Val785Ile)	NC_000014.8:g.102452915G>A	(Likely) benign	1 lab	e90922ea87
X:70326218 CXorf65 G>A	X	70326218	70326218	G	A	CXorf65	c.84C>T	NM_001025265.2	NP_001020436.1:p.(Ile28=)	NC_000023.10:g.70326218G>A	(Likely) benign	1 lab	2efcd450e3
12:2659082 CACNA1C G>T	12	2659082	2659082	G	T	CACNA1C	c.1391-27G>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2659082G>T	(Likely) benign	1 lab	2efe01b8f0
10:21186096 NEBL A>G	10	21186096	21186096	A	G	NEBL	c.39T>C	NM_006393.2	NP_006384.1:p.(Thr13=)	NC_000010.10:g.21186096A>G	(Likely) benign	1 lab	2efe3f5993
5:94845307 SKIC3 G>A	5	94845307	94845307	G	A	SKIC3	c.3005C>T	NM_014639.3	NP_055454.1:p.(Ala1002Val)	NC_000005.9:g.94845307G>A	VUS	1 lab	2efee3fead
15:43296040 UBR1 C>T	15	43296040	43296040	C	T	UBR1	c.3504G>A	NM_174916.2	NP_777576.1:p.(Trp1168Ter)	NC_000015.9:g.43296040C>T	(Likely) pathogenic	1 lab	2eff40c83f
X:136649319 ZIC3 C>A	X	136649319	136649319	C	A	ZIC3	c.469C>A	NM_003413.3	NP_003404.1:p.(Pro157Thr)	NC_000023.10:g.136649319C>A	VUS	1 lab	2effd2f773
X:71823028 PHKA1 G>A	X	71823028	71823028	G	A	PHKA1	c.2858C>T	NM_002637.3	NP_002628.2:p.(Ala953Val)	NC_000023.10:g.71823028G>A	VUS	1 lab	2f01997bcc
3:48629195 COL7A1 C>T	3	48629195	48629195	C	T	COL7A1	c.1418G>A	NM_000094.3	NP_000085.1:p.(Gly473Glu)	NC_000003.11:g.48629195C>T	VUS	1 lab	2f020fec93
1:27180246 ZDHHC18 C>T	1	27180246	27180246	C	T	ZDHHC18	c.1079C>T	NM_032283.3	NP_115659.1:p.(Ser360Phe)	NC_000001.10:g.27180246C>T	VUS	1 lab	2f0228c770
1:11253716 MTOR G>A	1	11253716	11253716	G	A	MTOR	c.4253+5599C>T	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11253716G>A	(Likely) benign	1 lab	e90b7698e5
13:32900285 BRCA2 C>T	13	32900285	32900285	C	T	BRCA2	c.473C>T	NM_000059.4	NP_000050.3:p.(Ser158Leu)	NC_000013.10:g.32900285C>T	VUS	1 lab	e90c7f4d87
3:132405228 NPHP3 C>T	3	132405228	132405228	C	T	NPHP3	c.3205G>A	NM_153240.4	NP_694972.3:p.(Gly1069Arg)	NC_000003.11:g.132405228C>T	VUS	1 lab	2f0670926d
17:41131677 PTGES3L-AARSD1 C>G	17	41131677	41131677	C	G	PTGES3L-AARSD1	c.141G>C	NM_001136042.2	NP_001129514.2:p.(Gln47His)	NC_000017.10:g.41131677C>G	VUS	1 lab	2f075b47e2
17:29527570 NF1 C>CT	17	29527570	29527571	C	CT	NF1	c.1020dup	NM_000267.3	NP_000258.1:p.(Val341CysfsTer12)	NC_000017.10:g.29527571dup	(Likely) pathogenic	1 lab	2f093f5ae7
19:55666173 TNNI3 C>A	19	55666173	55666173	C	A	TNNI3	c.308G>T	NM_000363.5	NP_000354.4:p.(Arg103Leu)	NC_000019.9:g.55666173C>A	VUS	1 lab	e90eea2e25
12:83289921 TMTC2 G>A	12	83289921	83289921	G	A	TMTC2	c.979G>A	NM_152588.3	NP_689801.1:p.(Gly327Ser)	NC_000012.11:g.83289921G>A	(Likely) benign	1 lab	2f0aaf36ab
2:241929107 CROCC2 C>A	2	241929107	241929107	C	A	CROCC2	c.4720C>A	NM_001351305.1	NP_001338234.1:p.(Arg1574=)	NC_000002.11:g.241929107C>A	(Likely) benign	1 lab	2f0cec90ff
X:100880105 ARMCX3 G>C	X	100880105	100880105	G	C	ARMCX3	c.136G>C	NM_016607.3	NP_057691.1:p.(Val46Leu)	NC_000023.10:g.100880105G>C	(Likely) benign	1 lab	2f0ded79b4
3:197408146 RUBCN C>A	3	197408146	197408146	C	A	RUBCN	c.2149G>T	NM_001145642.4	NP_001139114.1:p.(Val717Phe)	NC_000003.11:g.197408146C>A	(Likely) benign	1 lab	2f0e0f01b4
17:29556342 NF1 G>A	17	29556342	29556342	G	A	NF1	c.2709G>A	NM_000267.3	NP_000258.1:p.(Val903=)	NC_000017.10:g.29556342G>A	(Likely) pathogenic	1 lab	2f0e7e7ad2
17:29527502 NF1 AG>A	17	29527502	29527503	AG	A	NF1	c.952del	NM_001042492.3	NP_001035957.1:p.(Glu318LysfsTer58)	NC_000017.10:g.29527503del	(Likely) pathogenic	1 lab	2f10099658
14:91792386 CCDC88C A>G	14	91792386	91792386	A	G	CCDC88C	c.1065T>C	NM_001080414.3	NP_001073883.2:p.(Asp355=)	NC_000014.8:g.91792386A>G	(Likely) benign	1 lab	2f105fde13
7:155504070 RBM33 G>A	7	155504070	155504070	G	A	RBM33	c.1122G>A	NM_053043.3	NP_444271.2:p.(Pro374=)	NC_000007.13:g.155504070G>A	(Likely) benign	1 lab	2f10ab984d
21:45750340 CFAP410 A>G	21	45750340	45750340	A	G	CFAP410	c.999+6T>C	NM_001271441.1	NP_001258370.1:p.?	NC_000021.8:g.45750340A>G	(Likely) benign	1 lab	2f11d34806
7:94030869 COL1A2 A>T	7	94030869	94030869	A	T	COL1A2	c.226-10A>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94030869A>T	(Likely) benign	1 lab	2f133c3ea9
X:19587233 SH3KBP1 T>C	X	19587233	19587233	T	C	SH3KBP1	c.1372A>G	NM_031892.2	NP_114098.1:p.(Ser458Gly)	NC_000023.10:g.19587233T>C	VUS	1 lab	2f13a2beb5
21:36206858 RUNX1 G>A	21	36206858	36206858	G	A	RUNX1	c.573C>T	NM_001001890.2	NP_001001890.1:p.(Ser191=)	NC_000021.8:g.36206858G>A	(Likely) benign	1 lab	2f196ea800
1:226125207 LEFTY2 G>A	1	226125207	226125207	G	A	LEFTY2	c.1035C>T	NM_003240.4	NP_003231.2:p.(Asn345=)	NC_000001.10:g.226125207G>A	(Likely) benign	1 lab	2f19ce7c97
8:145583473 SLC52A2 A>G	8	145583473	145583473	A	G	SLC52A2	c.321A>G	NM_024531.4	NP_078807.1:p.(Gly107=)	NC_000008.10:g.145583473A>G	(Likely) benign	1 lab	2f1a77df5e
17:34945670 GGNBP2 C>G	17	34945670	34945670	C	G	GGNBP2	c.1923C>G	NM_024835.5	NP_079111.1:p.(Ile641Met)	NC_000017.10:g.34945670C>G	(Likely) benign	1 lab	2f1c3f9fd8
12:88508331 CEP290 A>G	12	88508331	88508331	A	G	CEP290	c.1918T>C	NM_025114.3	NP_079390.3:p.(Leu640=)	NC_000012.11:g.88508331A>G	(Likely) benign	1 lab	2f1c51a30e
5:167645509 TENM2 C>T	5	167645509	167645509	C	T	TENM2	c.4586C>T	NM_001122679.1	NP_001116151.1:p.(Ala1529Val)	NC_000005.9:g.167645509C>T	VUS	1 lab	2f1d8075f7
16:71163622 HYDIN C>T	16	71163622	71163622	C	T	HYDIN	c.1148G>A	NM_001270974.2	NP_001257903.1:p.(Arg383Gln)	NC_000016.9:g.71163622C>T	(Likely) benign	1 lab	2f1ecf40fe
3:49881312 TRAIP C>T	3	49881312	49881312	C	T	TRAIP	c.330G>A	NM_005879.2	NP_005870.2:p.(Thr110=)	NC_000003.11:g.49881312C>T	(Likely) benign	1 lab	2f1ee0780e
19:10472936 TYK2 G>A	19	10472936	10472936	G	A	TYK2	c.1669+4C>T	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10472936G>A	(Likely) benign	1 lab	2f1f2b652d
9:108223891 FSD1L C>T	9	108223891	108223891	C	T	FSD1L	c.106C>T	NM_001145313.3	NP_001138785.1:p.(Gln36Ter)	NC_000009.11:g.108223891C>T	VUS	1 lab	2f1f57394a
16:27751529 KATNIP G>A	16	27751529	27751529	G	A	KATNIP	c.1911G>A	NM_015202.3	NP_056017.3:p.(Ser637=)	NC_000016.9:g.27751529G>A	(Likely) benign	1 lab	2f1fc1d072
X:54466866 TSR2 T>C	X	54466866	54466866	T	C	TSR2	c.12T>C	NM_058163.2	NP_477511.1:p.(Ala4=)	NC_000023.10:g.54466866T>C	(Likely) benign	1 lab	2f1fc284db
7:33385852 BBS9 C>T	7	33385852	33385852	C	T	BBS9	c.1329+1606C>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33385852C>T	(Likely) benign	1 lab	e916f34159
10:79737352 POLR3A T>C	10	79737352	79737352	T	C	POLR3A	c.4057A>G	NM_007055.3	NP_008986.2:p.(Met1353Val)	NC_000010.10:g.79737352T>C	(Likely) benign	1 lab	2f20a397d3
12:106461513 NUAK1 G>A	12	106461513	106461513	G	A	NUAK1	c.1053C>T	NM_014840.2	NP_055655.1:p.(Gly351=)	NC_000012.11:g.106461513G>A	(Likely) benign	1 lab	2f20bc06fc
19:1619854 TCF3 T>C	19	1619854	1619854	T	C	TCF3	c.1094-2A>G	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619854T>C	(Likely) pathogenic	1 lab	2f20c67dc4
17:48264060 COL1A1 C>T	17	48264060	48264060	C	T	COL1A1	c.3755G>A	NM_000088.3	NP_000079.2:p.(Arg1252His)	NC_000017.10:g.48264060C>T	VUS	1 lab	2f21eb222d
17:29556326 NF1 T>C	17	29556326	29556326	T	C	NF1	c.2693T>C	NM_000267.3	NP_000258.1:p.(Leu898Pro)	NC_000017.10:g.29556326T>C	(Likely) pathogenic	1 lab	2f22a14a0e
X:30326560 NR0B1 C>A	X	30326560	30326560	C	A	NR0B1	c.921G>T	NM_000475.5	NP_000466.2:p.(Glu307Asp)	NC_000023.10:g.30326560C>A	VUS	1 lab	e925eaf89c
7:130040067 CEP41 C>T	7	130040067	130040067	C	T	CEP41	c.786G>A	NM_018718.2	NP_061188.1:p.(Pro262=)	NC_000007.13:g.130040067C>T	(Likely) benign	1 lab	2f26616603
7:98529049 TRRAP A>G	7	98529049	98529049	A	G	TRRAP	c.3613A>G	NM_001244580.1	NP_001231509.1:p.(Met1205Val)	NC_000007.13:g.98529049A>G	VUS	1 lab	2f26c3db27
9:32430482 ACO1 A>G	9	32430482	32430482	A	G	ACO1	c.1636A>G	NM_001278352.1	NP_001265281.1:p.(Thr546Ala)	NC_000009.11:g.32430482A>G	VUS	1 lab	2f2876cd95
10:120789882 NANOS1 C>G	10	120789882	120789882	C	G	NANOS1	c.569C>G	NM_199461.3	NP_955631.1:p.(Ala190Gly)	NC_000010.10:g.120789882C>G	(Likely) benign	1 lab	2f2a1e273d
17:29652973 NF1 CT>C	17	29652973	29652976	CT	C	NF1	c.4974del	NM_001042492.3	NP_001035957.1:p.(Leu1659SerfsTer39)	NC_000017.10:g.29652976del	(Likely) pathogenic	1 lab	2f2a275927
15:82934529 MISSING C>T	15	82934529	82934529	C	T	MISSING				NC_000015.9:g.82934529C>T	(Likely) benign	1 lab	2f2cefdee1
17:66519857 PRKAR1A C>CT	17	66519857	66519861	C	CT	PRKAR1A	c.349-5dup	NM_212471.3	NP_997636.1:p.?	NC_000017.10:g.66519861dup	(Likely) benign	1 lab	e9282a8b38
22:17601585 TMEM121B C>T	22	17601585	17601585	C	T	TMEM121B	c.433G>A	NM_031890.3	NP_114096.1:p.(Ala145Thr)	NC_000022.10:g.17601585C>T	VUS	1 lab	2f2dbfa26e
19:38934430 RYR1 G>A	19	38934430	38934430	G	A	RYR1	c.418G>A	NM_000540.2	NP_000531.2:p.(Ala140Thr)	NC_000019.9:g.38934430G>A	(Likely) benign	1 lab	2f2de80f4e
17:27904008 GIT1 A>G	17	27904008	27904008	A	G	GIT1	c.1127T>C	NM_001085454.1	NP_001078923.1:p.(Leu376Pro)	NC_000017.10:g.27904008A>G	(Likely) benign	1 lab	2f2df216d2
21:47777014 PCNT C>T	21	47777014	47777014	C	T	PCNT	c.2062C>T	NM_006031.5	NP_006022.3:p.(Leu688Phe)	NC_000021.8:g.47777014C>T	VUS	1 lab	2f2e667872
X:70320697 FOXO4 G>A	X	70320697	70320697	G	A	FOXO4	c.617G>A	NM_005938.3	NP_005929.2:p.(Arg206Gln)	NC_000023.10:g.70320697G>A	VUS	1 lab	2f2fa98c81
8:101237478 SPAG1 C>T	8	101237478	101237478	C	T	SPAG1	c.1766C>T	NM_003114.4	NP_003105.2:p.(Ser589Phe)	NC_000008.10:g.101237478C>T	(Likely) benign	1 lab	2f37b29348
2:166775882 TTC21B A>G	2	166775882	166775882	A	G	TTC21B	c.1578T>C	NM_024753.4	NP_079029.3:p.(Ala526=)	NC_000002.11:g.166775882A>G	(Likely) benign	1 lab	2f37bd16ad
2:74757554 HTRA2 G>T	2	74757554	74757554	G	T	HTRA2	c.421G>T	NM_013247.4	NP_037379.1:p.(Ala141Ser)	NC_000002.11:g.74757554G>T	(Likely) benign	1 lab	2f3a7fbaed
6:7571628 DSP C>T	6	7571628	7571628	C	T	DSP	c.1714C>T	NM_004415.4	NP_004406.2:p.(Arg572Trp)	NC_000006.11:g.7571628C>T	VUS	1 lab	e92ba848a6
11:94189498 MRE11 G>A	11	94189498	94189498	G	A	MRE11	c.1507C>T	NM_005591.3	NP_005582.1:p.(Arg503Cys)	NC_000011.9:g.94189498G>A	VUS	1 lab	2f3d63e64b
7:98988628 ARPC1B G>A	7	98988628	98988628	G	A	ARPC1B	c.613G>A	NM_005720.4	NP_005711.1:p.(Val205Ile)	NC_000007.13:g.98988628G>A	(Likely) benign	1 lab	2f3ee36d90
18:32455334 DTNA G>A	18	32455334	32455334	G	A	DTNA	c.1794G>A	NM_001390.4	NP_001381.2:p.(Gly598=)	NC_000018.9:g.32455334G>A	(Likely) benign	1 lab	2f3f7ac23d
11:694759 DEAF1 C>T	11	694759	694759	C	T	DEAF1	c.289G>A	NM_021008.3	NP_066288.2:p.(Glu97Lys)	NC_000011.9:g.694759C>T	VUS	1 lab	2f40b5ab6d
10:115405648 NRAP G>A	10	115405648	115405648	G	A	NRAP	c.1046C>T	NM_001261463.1	NP_001248392.1:p.(Ser349Leu)	NC_000010.10:g.115405648G>A	VUS	1 lab	2f429ce61f
19:50124860 PRR12 CG>C	19	50124860	50124861	CG	C	PRR12	c.5703del	NM_020719.3	NP_065770.1:p.(Leu1902Ter)	NC_000019.9:g.50124861del	VUS	1 lab	2f42b68819
17:40714753 COASY A>G	17	40714753	40714753	A	G	COASY	c.113A>G	NM_025233.6	NP_079509.5:p.(Tyr38Cys)	NC_000017.10:g.40714753A>G	VUS	1 lab	2f5c9a92f4
10:97607409 ENTPD1 C>T	10	97607409	97607409	C	T	ENTPD1	c.897C>T	NM_001164179.1	NP_001157651.1:p.(Tyr299=)	NC_000010.10:g.97607409C>T	(Likely) benign	1 lab	2f469db3ba
9:135772838 TSC1 ATTTC>A	9	135772838	135772844	ATTTC	A	TSC1	c.2781_2784del	NM_000368.5	NP_000359.1:p.(Lys927AsnfsTer3)	NC_000009.11:g.135772841_135772844del	(Likely) pathogenic	1 lab	2f489240ba
9:124080976 GSN C>T	9	124080976	124080976	C	T	GSN	c.1117C>T	NM_001127663.1	NP_001121135.2:p.(Leu373=)	NC_000009.11:g.124080976C>T	(Likely) benign	1 lab	2f4932c675
11:6561207 DNHD1 G>GC	11	6561207	6561208	G	GC	DNHD1	c.3523dup	NM_144666.2	NP_653267.2:p.(His1175ProfsTer29)	NC_000011.9:g.6561208dup	VUS	1 lab	2f4b4c768b
8:13424847 C8orf48 A>C	8	13424847	13424847	A	C	C8orf48	c.347A>C	NM_001007090.3	NP_001007091.2:p.(Asp116Ala)	NC_000008.10:g.13424847A>C	(Likely) benign	1 lab	2f4bbfeb40
7:40134044 CDK13 A>T	7	40134044	40134044	A	T	CDK13	c.4004A>T	NM_003718.5	NP_003709.3:p.(Tyr1335Phe)	NC_000007.13:g.40134044A>T	VUS	1 lab	e92ee88b0c
15:23890660 MAGEL2 C>T	15	23890660	23890660	C	T	MAGEL2	c.2230G>A	NM_019066.4	NP_061939.3:p.(Ala744Thr)	NC_000015.9:g.23890660C>T	VUS	1 lab	2f4e551eaf
21:38536503 TTC3 T>C	21	38536503	38536503	T	C	TTC3	c.3321T>C	NM_003316.4	NP_003307.3:p.(Cys1107=)	NC_000021.8:g.38536503T>C	(Likely) benign	1 lab	2f4f792b4c
20:60894000 LAMA5 C>T	20	60894000	60894000	C	T	LAMA5	c.6941G>A	NM_005560.4	NP_005551.3:p.(Arg2314Gln)	NC_000020.10:g.60894000C>T	(Likely) benign	1 lab	2f4fd8fa2c
4:65274945 TECRL G>C	4	65274945	65274945	G	C	TECRL	c.125C>G	NM_001010874.4	NP_001010874.2:p.(Ser42Ter)	NC_000004.11:g.65274945G>C	VUS	1 lab	2f50b18b8a
22:38370078 SOX10 G>A	22	38370078	38370078	G	A	SOX10	c.825C>T	NM_006941.3	NP_008872.1:p.(Asn275=)	NC_000022.10:g.38370078G>A	(Likely) benign	1 lab	2f50b796de
19:48741730 CARD8 C>T	19	48741730	48741730	C	T	CARD8	c.119G>A	NM_001351782.1	NP_001338711.1:p.(Arg40Gln)	NC_000019.9:g.48741730C>T	VUS	1 lab	2f50d062b3
20:57429643 GNAS C>T	20	57429643	57429643	C	T	GNAS	c.1136C>T	NM_001077490.2	NP_001070958.1:p.(Pro379Leu)	NC_000020.10:g.57429643C>T	VUS	1 lab	2f5232125a
1:39893872 MACF1 G>A	1	39893872	39893872	G	A	MACF1	c.10530G>A	NM_012090.5	NP_036222.3:p.(Trp3510Ter)	NC_000001.10:g.39893872G>A	(Likely) pathogenic	1 lab	2f530f1944
20:400341 RBCK1 C>CGGGCGAGGA	20	400341	400352	C	CGGGCGAGGA	RBCK1	c.599_607dup	NM_006462.5	NP_006453.1:p.(Gly200_Glu202dup)	NC_000020.10:g.400344_400352dup	VUS	1 lab	2f53499c3c
8:37623842 PLPBP C>T	8	37623842	37623842	C	T	PLPBP	c.288C>T	NM_001349346.1	NP_001336275.1:p.(His96=)	NC_000008.10:g.37623842C>T	(Likely) benign	1 lab	2f549b2b31
X:153585626 FLNA G>A	X	153585626	153585626	G	A	FLNA	c.4962C>T	NM_001110556.2	NP_001104026.1:p.(His1654=)	NC_000023.10:g.153585626G>A	(Likely) benign	1 lab	2f54af14e7
21:46931121 COL18A1 G>A	21	46931121	46931121	G	A	COL18A1	c.4321G>A	NM_030582.4	NP_085059.2:p.(Val1441Ile)	NC_000021.8:g.46931121G>A	VUS	1 lab	2f54b13110
1:22213964 HSPG2 G>A	1	22213964	22213964	G	A	HSPG2	c.907C>T	NM_001291860.1	NP_001278789.1:p.(Leu303Phe)	NC_000001.10:g.22213964G>A	VUS	1 lab	2f5501c51a
2:55195896 EML6 C>T	2	55195896	55195896	C	T	EML6	c.5844C>T	NM_001039753.2	NP_001034842.2:p.(Asp1948=)	NC_000002.11:g.55195896C>T	(Likely) benign	1 lab	2f57f99622
10:102775426 PDZD7 G>A	10	102775426	102775426	G	A	PDZD7	c.1716C>T	NM_001195263.1	NP_001182192.1:p.(Asp572=)	NC_000010.10:g.102775426G>A	(Likely) benign	1 lab	2f59a7a184
17:41228533 BRCA1 T>TATTTTTACG	17	41228533	41228534	T	TATTTTTACG	BRCA1	c.4455_4456insCGTAAAAAT	NM_007294.4	NP_009225.1:p.(Thr1485_Ser1486insArgLysAsn)	NC_000017.10:g.41228533_41228534insATTTTTACG	(Likely) pathogenic	1 lab	e92ee9a2ef
1:94543327 ABCA4 A>C	1	94543327	94543327	A	C	ABCA4	c.1473T>G	NM_000350.2	NP_000341.2:p.(Ala491=)	NC_000001.10:g.94543327A>C	(Likely) benign	1 lab	2f5db5d04c
21:47676863 MCM3AP G>A	21	47676863	47676863	G	A	MCM3AP	c.3772C>T	NM_003906.4	NP_003897.2:p.(Arg1258Cys)	NC_000021.8:g.47676863G>A	VUS	1 lab	2f5dca845a
22:17585703 IL17RA AG>A	22	17585703	17585707	AG	A	IL17RA	c.931+7del	NM_014339.7	NP_055154.3:p.?	NC_000022.10:g.17585707del	(Likely) benign	1 lab	2f5e21edd7
X:107783041 COL4A5 G>A	X	107783041	107783041	G	A	COL4A5	c.141+6G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107783041G>A	(Likely) benign	1 lab	2f5e49f3b6
16:89576895 SPG7 C>T	16	89576895	89576895	C	T	SPG7	c.184-3C>T	NM_003119.3	NP_003110.1:p.?	NC_000016.9:g.89576895C>T	(Likely) benign	1 lab	2f6026b9e8
12:52963643 KRT74 C>T	12	52963643	52963643	C	T	KRT74	c.1134G>A	NM_175053.3	NP_778223.2:p.(Gln378=)	NC_000012.11:g.52963643C>T	VUS	1 lab	2f608efb8f
16:31121734 BCKDK G>A	16	31121734	31121734	G	A	BCKDK	c.556G>A	NM_001122957.2	NP_001116429.1:p.(Val186Ile)	NC_000016.9:g.31121734G>A	(Likely) benign	1 lab	2f60b901bb
3:33166002 CRTAP G>A	3	33166002	33166002	G	A	CRTAP	c.724G>A	NM_006371.4	NP_006362.1:p.(Glu242Lys)	NC_000003.11:g.33166002G>A	VUS	1 lab	2f60cbeb68
21:46320303 ITGB2 C>T	21	46320303	46320303	C	T	ITGB2	c.829G>A	NM_000211.3	NP_000202.2:p.(Ala277Thr)	NC_000021.8:g.46320303C>T	VUS	1 lab	2f62c9ec2b
5:89948345 ADGRV1 A>G	5	89948345	89948345	A	G	ADGRV1	c.3599A>G	NM_032119.4	NP_115495.3:p.(Asn1200Ser)	NC_000005.9:g.89948345A>G	VUS	1 lab	2f635f569c
1:21807427 NBPF3 G>T	1	21807427	21807427	G	T	NBPF3	c.1218G>T	NM_001330381.1	NP_001317310.1:p.(Met406Ile)	NC_000001.10:g.21807427G>T	(Likely) benign	1 lab	2f646952d9
12:65152990 GNS TGCAGGAGG>T	12	65152990	65153003	TGCAGGAGG	T	GNS	c.59_66del	NM_002076.4	NP_002067.1:p.(Pro20GlnfsTer84)	NC_000012.11:g.65152996_65153003del	(Likely) pathogenic	1 lab	2f67afc6d2
17:36486718 GPR179 C>T	17	36486718	36486718	C	T	GPR179	c.2734G>A	NM_001004334.3	NP_001004334.3:p.(Asp912Asn)	NC_000017.10:g.36486718C>T	VUS	1 lab	2f682fedd7
2:74701858 CCDC142 G>T	2	74701858	74701858	G	T	CCDC142	c.2047C>A	NM_032779.3	NP_116168.3:p.(Pro683Thr)	NC_000002.11:g.74701858G>T	VUS	1 lab	2f6dcba3c8
6:35477682 TULP1 G>C	6	35477682	35477682	G	C	TULP1	c.523C>G	NM_003322.5	NP_003313.3:p.(Pro175Ala)	NC_000006.11:g.35477682G>C	(Likely) benign	1 lab	2f6e91fcb2
17:36482922 GPR179 C>G	17	36482922	36482922	C	G	GPR179	c.6530G>C	NM_001004334.3	NP_001004334.3:p.(Arg2177Thr)	NC_000017.10:g.36482922C>G	(Likely) benign	1 lab	2f6ee6b49d
14:60600779 PCNX4 A>G	14	60600779	60600779	A	G	PCNX4	c.3359A>G	NM_001330177.2	NP_001317106.1:p.(Asn1120Ser)	NC_000014.8:g.60600779A>G	VUS	1 lab	2f6eefe101
11:76890091 MYO7A G>A	11	76890091	76890091	G	A	MYO7A	c.2283G>A	NM_000260.3	NP_000251.3:p.(Arg761=)	NC_000011.9:g.76890091G>A	(Likely) benign	1 lab	2f705542a9
10:121571426 INPP5F G>T	10	121571426	121571426	G	T	INPP5F	c.1845G>T	NM_014937.3	NP_055752.1:p.(Glu615Asp)	NC_000010.10:g.121571426G>T	VUS	1 lab	2f706c0017
19:18180413 IL12RB1 C>A	19	18180413	18180413	C	A	IL12RB1	c.1132G>T	NM_005535.1	NP_005526.1:p.(Gly378Trp)	NC_000019.9:g.18180413C>A	VUS	1 lab	2f70da64a5
1:11259724 MTOR A>G	1	11259724	11259724	A	G	MTOR	c.3981T>C	NM_004958.3	NP_004949.1:p.(Ser1327=)	NC_000001.10:g.11259724A>G	(Likely) benign	1 lab	2f70f2c3da
20:10623181 JAG1 G>A	20	10623181	10623181	G	A	JAG1	c.2527C>T	NM_000214.3	NP_000205.1:p.(Arg843Trp)	NC_000020.10:g.10623181G>A	VUS	1 lab	e935281f03
1:248801602 OR2T35 T>TCA	1	248801602	248801606	T	TCA	OR2T35	c.956_957dup	NM_001001827.1	NP_001001827.1:p.(Ile320Ter)	NC_000001.10:g.248801605_248801606dup	(Likely) benign	1 lab	2f728b91ee
11:66454510 SPTBN2 C>A	11	66454510	66454510	C	A	SPTBN2	c.6851G>T	NM_006946.3	NP_008877.1:p.(Ser2284Ile)	NC_000011.9:g.66454510C>A	VUS	1 lab	2f72ac3466
X:56591276 UBQLN2 C>T	X	56591276	56591276	C	T	UBQLN2	c.970C>T	NM_013444.3	NP_038472.2:p.(Pro324Ser)	NC_000023.10:g.56591276C>T	(Likely) benign	1 lab	2f73db754d
5:137519793 KIF20A C>T	5	137519793	137519793	C	T	KIF20A	c.1351C>T	NM_005733.3	NP_005724.1:p.(Arg451Trp)	NC_000005.9:g.137519793C>T	VUS	1 lab	2f74fa4e0a
X:39921605 BCOR C>T	X	39921605	39921605	C	T	BCOR	c.4215G>A	NM_001123385.1	NP_001116857.1:p.(Ser1405=)	NC_000023.10:g.39921605C>T	(Likely) benign	1 lab	2f7b1a630a
13:111154160 COL4A2 G>A	13	111154160	111154160	G	A	COL4A2	c.3877+29G>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111154160G>A	(Likely) benign	1 lab	2f7b665cd7
19:8553648 HNRNPM G>A	19	8553648	8553648	G	A	HNRNPM	c.2103G>A	NM_005968.4	NP_005959.2:p.(Ser701=)	NC_000019.9:g.8553648G>A	(Likely) benign	1 lab	2f7c7cb2e0
16:70289720 AARS1 G>A	16	70289720	70289720	G	A	AARS1	c.2197C>T	NM_001605.2	NP_001596.2:p.(His733Tyr)	NC_000016.9:g.70289720G>A	VUS	1 lab	2f7df33f8c
3:47161745 SETD2 T>TCC	3	47161745	47161747	T	TCC	SETD2	c.4379_4380dup	NM_014159.6	NP_054878.5:p.(Lys1461GlyfsTer23)	NC_000003.11:g.47161746_47161747dup	(Likely) pathogenic	1 lab	2f80c51dfc
7:39710409 RALA G>A	7	39710409	39710409	G	A	RALA	c.-37-15821G>A	NM_005402.4	NP_005393.2:p.?	NC_000007.13:g.39710409G>A	VUS	1 lab	e9377b401a
12:53189712 KRT3 C>T	12	53189712	53189712	C	T	KRT3	c.115G>A	NM_057088.2	NP_476429.2:p.(Gly39Ser)	NC_000012.11:g.53189712C>T	(Likely) benign	1 lab	2f82c7ad32
5:150885564 FAT2 C>T	5	150885564	150885564	C	T	FAT2	c.12612G>A	NM_001447.2	NP_001438.1:p.(Pro4204=)	NC_000005.9:g.150885564C>T	(Likely) benign	1 lab	2f83dad925
2:121736178 GLI2 A>C	2	121736178	121736178	A	C	GLI2	c.1518+19A>C	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121736178A>C	(Likely) benign	1 lab	e93c3e0432
5:32784993 NPR3 AGGAC>A	5	32784993	32784999	AGGAC	A	NPR3	c.1514+7_1514+10del	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32784996_32784999del	(Likely) benign	1 lab	2f85a487f4
13:36909502 SPART G>A	13	36909502	36909502	G	A	SPART	c.466C>T	NM_015087.5	NP_055902.1:p.(Pro156Ser)	NC_000013.10:g.36909502G>A	(Likely) benign	1 lab	2f876a6ee5
10:122630812 WDR11 G>A	10	122630812	122630812	G	A	WDR11	c.1425G>A	NM_018117.11	NP_060587.8:p.(Pro475=)	NC_000010.10:g.122630812G>A	(Likely) benign	1 lab	2f888e297b
19:1218446 STK11 CA>C	19	1218446	1218451	CA	C	STK11	c.326del	NM_000455.5	NP_000446.1:p.(Asn109MetfsTer20)	NC_000019.9:g.1218451del	(Likely) pathogenic	1 lab	2f89276f0a
17:42152114 G6PC3 C>T	17	42152114	42152114	C	T	G6PC3	c.392C>T	NM_138387.3	NP_612396.1:p.(Ser131Leu)	NC_000017.10:g.42152114C>T	VUS	1 lab	2f8ab3f167
20:10639259 JAG1 C>T	20	10639259	10639259	C	T	JAG1	c.551G>A	NM_000214.3	NP_000205.1:p.(Arg184His)	NC_000020.10:g.10639259C>T	(Likely) pathogenic	1 lab	2fa48151c9
12:113355357 OAS1 T>G	12	113355357	113355357	T	G	OAS1	c.890T>G	NM_016816.4	NP_058132.2:p.(Val297Gly)	NC_000012.11:g.113355357T>G	(Likely) benign	1 lab	e93ec146eb
6:53152709 ELOVL5 C>A	6	53152709	53152709	C	A	ELOVL5	c.278G>T	NM_001242828.1	NP_001229757.1:p.(Cys93Phe)	NC_000006.11:g.53152709C>A	VUS	1 lab	2f8d637ece
6:152740735 SYNE1 A>G	6	152740735	152740735	A	G	SYNE1	c.5390T>C	NM_182961.3	NP_892006.3:p.(Met1797Thr)	NC_000006.11:g.152740735A>G	(Likely) benign	1 lab	2f8d742827
12:14767802 GUCY2C C>T	12	14767802	14767802	C	T	GUCY2C	c.3046G>A	NM_004963.3	NP_004954.2:p.(Val1016Met)	NC_000012.11:g.14767802C>T	VUS	1 lab	2f8f77d1c5
X:109697130 RTL9 G>A	X	109697130	109697130	G	A	RTL9	c.3285G>A	NM_020769.2	NP_065820.1:p.(Pro1095=)	NC_000023.10:g.109697130G>A	(Likely) benign	1 lab	2f8fdc3cfd
5:73930637 ENC1 G>A	5	73930637	73930637	G	A	ENC1	c.1674C>T	NM_001256574.1	NP_001243503.1:p.(Tyr558=)	NC_000005.9:g.73930637G>A	(Likely) benign	1 lab	2f8fef4000
14:91779871 CCDC88C G>A	14	91779871	91779871	G	A	CCDC88C	c.2289C>T	NM_001080414.3	NP_001073883.2:p.(Ser763=)	NC_000014.8:g.91779871G>A	(Likely) benign	1 lab	2f928308cf
1:25228880 RUNX3 C>T	1	25228880	25228880	C	T	RUNX3	c.1023G>A	NM_001031680.2	NP_001026850.1:p.(Pro341=)	NC_000001.10:g.25228880C>T	(Likely) benign	1 lab	2f928b4c51
9:137620534 COL5A1 G>A	9	137620534	137620534	G	A	COL5A1	c.805G>A	NM_000093.4	NP_000084.3:p.(Glu269Lys)	NC_000009.11:g.137620534G>A	VUS	1 lab	2f94475f86
17:78064196 CCDC40 T>C	17	78064196	78064196	T	C	CCDC40	c.3091T>C	NM_001243342.1	NP_001230271.1:p.(Ter1031ArgextTer21)	NC_000017.10:g.78064196T>C	(Likely) benign	1 lab	2f96522a77
9:135801041 TSC1 A>G	9	135801041	135801041	A	G	TSC1	c.296T>C	NM_000368.4	NP_000359.1:p.(Leu99Pro)	NC_000009.11:g.135801041A>G	(Likely) benign	1 lab	2f96a8ccaf
4:1803486 FGFR3 C>T	4	1803486	1803486	C	T	FGFR3	c.739+16C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1803486C>T	(Likely) benign	1 lab	2f972e49f8
19:49468766 FTL T>G	19	49468766	49468766	T	G	FTL	c.2T>G	NM_000146.3	NP_000137.2:p.(Met1?)	NC_000019.9:g.49468766T>G	VUS	1 lab	2f97aa8dcb
10:69896027 MYPN CCTTTT>C	10	69896027	69896036	CCTTTT	C	MYPN	c.903-6665_903-6661del	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69896032_69896036del	(Likely) benign	1 lab	2f97fa84c7
11:26547204 ANO3 G>A	11	26547204	26547204	G	A	ANO3	c.898G>A	NM_001313726.1	NP_001300655.1:p.(Gly300Arg)	NC_000011.9:g.26547204G>A	VUS	1 lab	2f99a7c5d0
16:84213358 TAF1C C>T	16	84213358	84213358	C	T	TAF1C	c.1799G>A	NM_005679.3	NP_005670.3:p.(Arg600His)	NC_000016.9:g.84213358C>T	(Likely) benign	1 lab	2f99d43e3f
13:51528061 RNASEH2B G>A	13	51528061	51528061	G	A	RNASEH2B	c.762G>A	NM_024570.3	NP_078846.2:p.(Glu254=)	NC_000013.10:g.51528061G>A	(Likely) benign	1 lab	2f9b6471c9
5:156751037 CYFIP2 T>C	5	156751037	156751037	T	C	CYFIP2	c.1780T>C	NM_001037333.3	NP_001032410.1:p.(Phe594Leu)	NC_000005.9:g.156751037T>C	VUS	1 lab	e9423ea9f3
4:79393413 FRAS1 C>T	4	79393413	79393413	C	T	FRAS1	c.7451C>T	NM_025074.7	NP_079350.5:p.(Thr2484Met)	NC_000004.11:g.79393413C>T	VUS	1 lab	2f9cb19fa8
14:105847373 PACS2 C>T	14	105847373	105847373	C	T	PACS2	c.1205C>T	NM_001100913.2	NP_001094383.2:p.(Thr402Met)	NC_000014.8:g.105847373C>T	(Likely) benign	1 lab	2f9d580933
7:107626756 LAMB1 G>C	7	107626756	107626756	G	C	LAMB1	c.476C>G	NM_002291.2	NP_002282.2:p.(Thr159Ser)	NC_000007.13:g.107626756G>C	VUS	1 lab	2f9d81a38a
17:36491028 GPR179 G>A	17	36491028	36491028	G	A	GPR179	c.1533C>T	NM_001004334.3	NP_001004334.3:p.(Gly511=)	NC_000017.10:g.36491028G>A	(Likely) benign	1 lab	2fa0314662
12:100774550 SLC17A8 C>T	12	100774550	100774550	C	T	SLC17A8	c.173C>T	NM_139319.2	NP_647480.1:p.(Ser58Phe)	NC_000012.11:g.100774550C>T	(Likely) benign	1 lab	2fa0a27bd4
17:17697588 RAI1 G>A	17	17697588	17697588	G	A	RAI1	c.1326G>A	NM_030665.3	NP_109590.3:p.(Val442=)	NC_000017.10:g.17697588G>A	(Likely) benign	1 lab	2fa18a8c90
2:74274679 TET3 C>T	2	74274679	74274679	C	T	TET3	c.1635C>T	NM_001287491.2	NP_001274420.1:p.(Asp545=)	NC_000002.11:g.74274679C>T	(Likely) benign	1 lab	2fa28129cb
10:73111397 SLC29A3 G>A	10	73111397	73111397	G	A	SLC29A3	c.462G>A	NM_001174098.1	NP_001167569.1:p.(Lys154=)	NC_000010.10:g.73111397G>A	(Likely) benign	1 lab	2fa38a80d1
15:49048128 CEP152 A>G	15	49048128	49048128	A	G	CEP152	c.3317T>C	NM_001194998.1	NP_001181927.1:p.(Val1106Ala)	NC_000015.9:g.49048128A>G	(Likely) benign	1 lab	2fa520cbdb
11:108164195 ATM A>G	11	108164195	108164195	A	G	ATM	c.4767A>G	NM_000051.3	NP_000042.3:p.(Ser1589=)	NC_000011.9:g.108164195A>G	(Likely) benign	1 lab	2fa56ea567
3:2787275 CNTN4 G>A	3	2787275	2787275	G	A	CNTN4	c.252G>A	NM_001206955.1	NP_001193884.1:p.(Leu84=)	NC_000003.11:g.2787275G>A	(Likely) benign	1 lab	2fa708ddb0
20:45771704 EYA2 A>G	20	45771704	45771704	A	G	EYA2	c.895A>G	NM_005244.4	NP_005235.3:p.(Thr299Ala)	NC_000020.10:g.45771704A>G	(Likely) benign	1 lab	2fa771106d
X:12827394 PRPS2 G>C	X	12827394	12827394	G	C	PRPS2	c.357G>C	NM_001039091.2	NP_001034180.1:p.(Leu119=)	NC_000023.10:g.12827394G>C	(Likely) benign	1 lab	2fa8ec9901
X:149639654 MAMLD1 G>A	X	149639654	149639654	G	A	MAMLD1	c.1809G>A	NM_005491.4	NP_005482.2:p.(Gln603=)	NC_000023.10:g.149639654G>A	(Likely) benign	1 lab	2faa887468
1:236180530 NID1 G>A	1	236180530	236180530	G	A	NID1	c.2172C>T	NM_002508.2	NP_002499.2:p.(His724=)	NC_000001.10:g.236180530G>A	(Likely) benign	1 lab	2faad2d6d4
17:58234012 CA4 A>G	17	58234012	58234012	A	G	CA4	c.204A>G	NM_000717.4	NP_000708.1:p.(Gly68=)	NC_000017.10:g.58234012A>G	(Likely) benign	1 lab	2faaf2ec85
10:71136852 HK1 A>G	10	71136852	71136852	A	G	HK1	c.1136+7A>G	NM_001322365.1	NP_001309294.1:p.?	NC_000010.10:g.71136852A>G	(Likely) benign	1 lab	2fac02c444
14:89307539 TTC8 C>T	14	89307539	89307539	C	T	TTC8	c.488C>T	NM_144596.3	NP_653197.2:p.(Thr163Met)	NC_000014.8:g.89307539C>T	VUS	1 lab	2fac77a828
10:73053580 UNC5B C>T	10	73053580	73053580	C	T	UNC5B	c.2065C>T	NM_170744.5	NP_734465.2:p.(Arg689Cys)	NC_000010.10:g.73053580C>T	VUS	1 lab	2fac97c013
9:140087150 TPRN G>A	9	140087150	140087150	G	A	TPRN	c.1726-7C>T	NM_001128228.3	NP_001121700.2:p.?	NC_000009.11:g.140087150G>A	(Likely) benign	1 lab	2fad1db7a8
6:160490922 IGF2R C>T	6	160490922	160490922	C	T	IGF2R	c.4275C>T	NM_000876.3	NP_000867.2:p.(Ala1425=)	NC_000006.11:g.160490922C>T	(Likely) benign	1 lab	2fb1c0e508
13:101759840 NALCN G>A	13	101759840	101759840	G	A	NALCN	c.2664C>T	NM_001350748.1	NP_001337677.1:p.(Asn888=)	NC_000013.10:g.101759840G>A	(Likely) benign	1 lab	2fb2143166
4:94031922 GRID2 T>C	4	94031922	94031922	T	C	GRID2	c.553T>C	NM_001510.3	NP_001501.2:p.(Leu185=)	NC_000004.11:g.94031922T>C	(Likely) benign	1 lab	2fb39c1b23
1:9776590 PIK3CD G>A	1	9776590	9776590	G	A	PIK3CD	c.693G>A	NM_005026.3	NP_005017.3:p.(Pro231=)	NC_000001.10:g.9776590G>A	(Likely) benign	1 lab	2fb4401ac4
12:80887091 MISSING T>C	12	80887091	80887091	T	C	MISSING				NC_000012.11:g.80887091T>C	VUS	1 lab	2fb5a40511
X:129149104 BCORL1 A>G	X	129149104	129149104	A	G	BCORL1	c.2356A>G	NM_001184772.2	NP_001171701.1:p.(Thr786Ala)	NC_000023.10:g.129149104A>G	VUS	1 lab	2fb7450550
20:17477651 BFSP1 A>G	20	17477651	17477651	A	G	BFSP1	c.974T>C	NM_001195.4	NP_001186.1:p.(Ile325Thr)	NC_000020.10:g.17477651A>G	(Likely) benign	1 lab	2fba50c90b
X:79937967 BRWD3 G>C	X	79937967	79937967	G	C	BRWD3	c.4394C>G	NM_153252.4	NP_694984.4:p.(Pro1465Arg)	NC_000023.10:g.79937967G>C	VUS	1 lab	2fba63f416
12:40692290 LRRK2 A>G	12	40692290	40692290	A	G	LRRK2	c.3342A>G	NM_198578.4	NP_940980.4:p.(Leu1114=)	NC_000012.11:g.40692290A>G	(Likely) benign	1 lab	e942c18217
7:103136355 RELN A>T	7	103136355	103136355	A	T	RELN	c.9194-10T>A	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103136355A>T	VUS	1 lab	2fbbe6851d
4:71275786 OPRPN TG>T	4	71275786	71275788	TG	T	OPRPN	c.743del	NM_021225.5	NP_067048.4:p.(Gly248ValfsTer16)	NC_000004.11:g.71275788del	VUS	1 lab	2fbe0ccab8
16:2138335 TSC2 T>C	16	2138335	2138335	T	C	TSC2	c.5259+9T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138335T>C	(Likely) benign	1 lab	2fbe51d0e4
3:170216576 SLC7A14 G>T	3	170216576	170216576	G	T	SLC7A14	c.639C>A	NM_020949.2	NP_066000.2:p.(Phe213Leu)	NC_000003.11:g.170216576G>T	(Likely) benign	1 lab	2fc1586cce
2:233712226 GIGYF2 C>CGCA	2	233712226	233712227	C	CGCA	GIGYF2	c.3692_3693insGCA	NM_001103147.1	NP_001096617.1:p.(Gln1237dup)	NC_000002.11:g.233712226_233712227insGCA	VUS	1 lab	2fc1d3417d
4:126372199 FAT4 A>G	4	126372199	126372199	A	G	FAT4	c.10028A>G	NM_024582.4	NP_078858.4:p.(Lys3343Arg)	NC_000004.11:g.126372199A>G	VUS	1 lab	2fc2ec9407
7:129688923 ZC3HC1 A>G	7	129688923	129688923	A	G	ZC3HC1	c.145T>C	NM_001282190.1	NP_001269119.1:p.(Leu49=)	NC_000007.13:g.129688923A>G	(Likely) benign	1 lab	2fc3a852fc
1:201331251 TNNT2 G>A	1	201331251	201331251	G	A	TNNT2	c.580-101C>T	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201331251G>A	(Likely) benign	1 lab	2fc44a4b1f
X:24006123 KLHL15 C>T	X	24006123	24006123	C	T	KLHL15	c.1730G>A	NM_030624.2	NP_085127.2:p.(Arg577Gln)	NC_000023.10:g.24006123C>T	VUS	1 lab	2fc7118d3c
8:141461409 TRAPPC9 G>T	8	141461409	141461409	G	T	TRAPPC9	c.64C>A	NM_001321646.1	NP_001308575.1:p.(Pro22Thr)	NC_000008.10:g.141461409G>T	VUS	1 lab	2fc76d0882
19:42754536 ERF G>A	19	42754536	42754536	G	A	ERF	c.204C>T	NM_006494.3	NP_006485.2:p.(Gly68=)	NC_000019.9:g.42754536G>A	(Likely) benign	1 lab	2fc8a6ee6a
2:179425543 TTN C>T	2	179425543	179425543	C	T	TTN	c.85316G>A	NM_001267550.1	NP_001254479.1:p.(Arg28439Gln)	NC_000002.11:g.179425543C>T	VUS	1 lab	2fc8ee88ef
12:56625099 SLC39A5 G>C	12	56625099	56625099	G	C	SLC39A5	c.41G>C	NM_173596.2	NP_775867.2:p.(Cys14Ser)	NC_000012.11:g.56625099G>C	(Likely) benign	1 lab	2fca01a39e
1:20975602 PINK1 C>T	1	20975602	20975602	C	T	PINK1	c.1366C>T	NM_032409.2	NP_115785.1:p.(Gln456Ter)	NC_000001.10:g.20975602C>T	(Likely) pathogenic	1 lab	2fcb1dbaff
17:29654854 NF1 T>A	17	29654854	29654854	T	A	NF1	c.5543T>A	NM_000267.3	NP_000258.1:p.(Leu1848Ter)	NC_000017.10:g.29654854T>A	(Likely) pathogenic	1 lab	2fcc0c7843
2:162280396 TBR1 C>T	2	162280396	162280396	C	T	TBR1	c.1707C>T	NM_006593.3	NP_006584.1:p.(Ala569=)	NC_000002.11:g.162280396C>T	(Likely) benign	1 lab	2fcc94efc1
6:109787613 ZBTB24 T>C	6	109787613	109787613	T	C	ZBTB24	c.1535A>G	NM_014797.2	NP_055612.2:p.(His512Arg)	NC_000006.11:g.109787613T>C	VUS	1 lab	2fcc9fb8c0
16:51171081 SALL1 C>T	16	51171081	51171081	C	T	SALL1	c.3626G>A	NM_001127892.1	NP_001121364.1:p.(Gly1209Glu)	NC_000016.9:g.51171081C>T	VUS	1 lab	2fcca9f453
8:144893227 SCRIB C>T	8	144893227	144893227	C	T	SCRIB	c.1122G>A	NM_182706.4	NP_874365.3:p.(Pro374=)	NC_000008.10:g.144893227C>T	(Likely) benign	1 lab	2fcd10da1d
1:11082253 TARDBP A>G	1	11082253	11082253	A	G	TARDBP	c.787A>G	NM_007375.3	NP_031401.1:p.(Lys263Glu)	NC_000001.10:g.11082253A>G	(Likely) pathogenic	1 lab	2fcd176161
7:6836240 RSPH10B2 A>ATT	7	6836240	6836241	A	ATT	RSPH10B2	c.2275_2276insTT	NM_001099697.1	NP_001093167.1:p.(Asn759IlefsTer13)	NC_000007.13:g.6836240_6836241insTT	VUS	1 lab	2fcec9c81b
19:36580123 WDR62 G>A	19	36580123	36580123	G	A	WDR62	c.1873G>A	NM_001083961.1	NP_001077430.1:p.(Val625Ile)	NC_000019.9:g.36580123G>A	VUS	1 lab	2fcfba424c
20:3219781 SLC4A11 C>G	20	3219781	3219781	C	G	SLC4A11	c.3G>C	NM_001174089.1	NP_001167560.1:p.(Met1?)	NC_000020.10:g.3219781C>G	(Likely) pathogenic	1 lab	2fcfde6ddb
13:35731212 NBEA T>C	13	35731212	35731212	T	C	NBEA	c.2652-3T>C	NM_015678.5	NP_056493.3:p.?	NC_000013.10:g.35731212T>C	(Likely) benign	1 lab	e9466243ff
12:20522897 PDE3A A>C	12	20522897	20522897	A	C	PDE3A	c.679A>C	NM_000921.4	NP_000912.3:p.(Ile227Leu)	NC_000012.11:g.20522897A>C	VUS	1 lab	2fd0dfdfa1
13:23913258 SACS T>C	13	23913258	23913258	T	C	SACS	c.4757A>G	NM_014363.5	NP_055178.3:p.(Asn1586Ser)	NC_000013.10:g.23913258T>C	VUS	1 lab	2fd1cfe37e
17:17697918 RAI1 C>T	17	17697918	17697918	C	T	RAI1	c.1656C>T	NM_030665.3	NP_109590.3:p.(Ser552=)	NC_000017.10:g.17697918C>T	(Likely) benign	1 lab	2fd37f7181
X:105855439 RADX G>A	X	105855439	105855439	G	A	RADX	c.129G>A	NM_018015.5	NP_060485.4:p.(Arg43=)	NC_000023.10:g.105855439G>A	(Likely) benign	1 lab	2fd495ed1c
X:153135930 L1CAM G>A	X	153135930	153135930	G	A	L1CAM	c.719C>T	NM_000425.4	NP_000416.1:p.(Pro240Leu)	NC_000023.10:g.153135930G>A	VUS	1 lab	2fd5485deb
5:67589217 PIK3R1 T>C	5	67589217	67589217	T	C	PIK3R1	c.1205T>C	NM_181523.2	NP_852664.1:p.(Val402Ala)	NC_000005.9:g.67589217T>C	VUS	1 lab	2fd638ffae
1:2161153 SKI G>A	1	2161153	2161153	G	A	SKI	c.948G>A	NM_003036.3	NP_003027.1:p.(Lys316=)	NC_000001.10:g.2161153G>A	(Likely) benign	1 lab	2fd7143133
X:140985142 MAGEC3 A>G	X	140985142	140985142	A	G	MAGEC3	c.1598A>G	NM_138702.1	NP_619647.1:p.(Tyr533Cys)	NC_000023.10:g.140985142A>G	(Likely) benign	1 lab	2fd9f53185
7:153584810 DPP6 G>A	7	153584810	153584810	G	A	DPP6				NC_000007.13:g.153584810G>A	(Likely) benign	1 lab	2fdbbe57f6
12:53416301 EIF4B G>A	12	53416301	53416301	G	A	EIF4B	c.557G>A	NM_001300821.2	NP_001287750.1:p.(Arg186His)	NC_000012.11:g.53416301G>A	VUS	1 lab	2fdbd73892
7:100365473 ZAN C>T	7	100365473	100365473	C	T	ZAN	c.4880C>T	NM_003386.2	NP_003377.2:p.(Ala1627Val)	NC_000007.13:g.100365473C>T	VUS	1 lab	2fdc3c3c29
11:61730282 BEST1 C>CA	11	61730282	61730285	C	CA	BEST1	c.1659dup	NM_004183.3	NP_004174.1:p.(Glu554ArgfsTer29)	NC_000011.9:g.61730285dup	(Likely) pathogenic	1 lab	2fdd31ce9d
10:95137159 MYOF C>T	10	95137159	95137159	C	T	MYOF	c.2029G>A	NM_013451.4	NP_038479.1:p.(Gly677Arg)	NC_000010.10:g.95137159C>T	VUS	1 lab	2fdd43b00c
2:32352056 SPAST C>T	2	32352056	32352056	C	T	SPAST	c.1138C>T	NM_014946.3	NP_055761.2:p.(Leu380Phe)	NC_000002.11:g.32352056C>T	VUS	1 lab	2fdd9a683c
7:47847866 PKD1L1 G>C	7	47847866	47847866	G	C	PKD1L1	c.7806C>G	NM_138295.4	NP_612152.1:p.(Thr2602=)	NC_000007.13:g.47847866G>C	(Likely) benign	1 lab	2fde755970
9:43894179 MISSING C>T	9	43894179	43894179	C	T	MISSING				NC_000009.11:g.43894179C>T	(Likely) benign	1 lab	2fdf401a1a
X:69665324 DLG3 G>A	X	69665324	69665324	G	A	DLG3	c.273G>A	NM_021120.3	NP_066943.2:p.(Pro91=)	NC_000023.10:g.69665324G>A	(Likely) benign	1 lab	2fdf8285bf
17:29562934 NF1 A>G	17	29562934	29562934	A	G	NF1	c.3871-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562934A>G	(Likely) pathogenic	1 lab	2fe0a49ddf
11:76912557 MYO7A G>A	11	76912557	76912557	G	A	MYO7A	c.4917G>A	NM_000260.3	NP_000251.3:p.(Thr1639=)	NC_000011.9:g.76912557G>A	(Likely) benign	1 lab	2fe2c82fb7
1:110607531 ALX3 A>G	1	110607531	110607531	A	G	ALX3	c.278-6T>C	NM_006492.3	NP_006483.2:p.?	NC_000001.10:g.110607531A>G	(Likely) benign	1 lab	2fe3876751
7:81603871 CACNA2D1 GA>G	7	81603871	81603880	GA	G	CACNA2D1	c.1956-4del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81603880del	(Likely) pathogenic	1 lab	2fe464a1de
14:21899417 CHD8 A>G	14	21899417	21899417	A	G	CHD8	c.386T>C	NM_001170629.1	NP_001164100.1:p.(Leu129Pro)	NC_000014.8:g.21899417A>G	VUS	1 lab	2fe4f8c0e7
1:154401887 IL6R C>T	1	154401887	154401887	C	T	IL6R	c.301C>T	NM_000565.3	NP_000556.1:p.(Arg101Cys)	NC_000001.10:g.154401887C>T	VUS	1 lab	2fe65fc5a6
10:21129774 NEBL T>G	10	21129774	21129774	T	G	NEBL	c.1232A>C	NM_006393.2	NP_006384.1:p.(Glu411Ala)	NC_000010.10:g.21129774T>G	VUS	1 lab	2fe666ccc9
X:23689755 PRDX4 A>T	X	23689755	23689755	A	T	PRDX4	c.351A>T	NM_006406.1	NP_006397.1:p.(Pro117=)	NC_000023.10:g.23689755A>T	(Likely) benign	1 lab	2fe7392a58
12:2595283 CACNA1C C>T	12	2595283	2595283	C	T	CACNA1C	c.771C>T	NM_199460.4	NP_955630.3:p.(Val257=)	NC_000012.11:g.2595283C>T	(Likely) benign	1 lab	2d6742fa49
7:100637269 MUC12 C>A	7	100637269	100637269	C	A	MUC12	c.3425C>A	NM_001164462.1	NP_001157934.1:p.(Thr1142Lys)	NC_000007.13:g.100637269C>A	VUS	1 lab	2fea043b34
7:2054273 MAD1L1 C>T	7	2054273	2054273	C	T	MAD1L1	c.1223G>A	NM_003550.2	NP_003541.2:p.(Arg408Gln)	NC_000007.13:g.2054273C>T	VUS	1 lab	2fea78b51a
1:20960282 PINK1 T>C	1	20960282	20960282	T	C	PINK1	c.241T>C	NM_032409.2	NP_115785.1:p.(Leu81=)	NC_000001.10:g.20960282T>C	(Likely) benign	1 lab	2feaa772c6
13:103309530 TPP2 G>A	13	103309530	103309530	G	A	TPP2	c.3116G>A	NM_001330588.2	NP_001317517.1:p.(Arg1039Gln)	NC_000013.10:g.103309530G>A	VUS	1 lab	e947de0b16
X:100547881 TAF7L G>A	X	100547881	100547881	G	A	TAF7L	c.153C>T	NM_024885.3	NP_079161.3:p.(Gly51=)	NC_000023.10:g.100547881G>A	(Likely) benign	1 lab	2fed0563f5
X:70387147 NLGN3 C>T	X	70387147	70387147	C	T	NLGN3	c.1200C>T	NM_181303.1	NP_851820.1:p.(Asp400=)	NC_000023.10:g.70387147C>T	(Likely) benign	1 lab	2fedc45aaa
Y:14872425 USP9Y G>A	Y	14872425	14872425	G	A	USP9Y	c.1778G>A	NM_004654.3	NP_004645.2:p.(Arg593Gln)	NC_000024.9:g.14872425G>A	VUS	1 lab	2fedd70ffe
17:79503239 FSCN2 C>T	17	79503239	79503239	C	T	FSCN2	c.1051C>T	NM_001077182.2	NP_001070650.1:p.(Arg351Cys)	NC_000017.10:g.79503239C>T	VUS	1 lab	2fef5fd637
19:362292 SPMAP2 C>T	19	362292	362292	C	T	SPMAP2	c.1048G>A	NM_016585.4	NP_057669.1:p.(Glu350Lys)	NC_000019.9:g.362292C>T	(Likely) benign	1 lab	2ff1a91256
22:21348993 LZTR1 C>T	22	21348993	21348993	C	T	LZTR1	c.1762C>T	NM_006767.3	NP_006758.2:p.(Arg588Trp)	NC_000022.10:g.21348993C>T	VUS	1 lab	2ff1bbb504
3:41280718 CTNNB1 C>G	3	41280718	41280718	C	G	CTNNB1	c.2231C>G	NM_001904.3	NP_001895.1:p.(Pro744Arg)	NC_000003.11:g.41280718C>G	VUS	1 lab	2ff3002f45
15:23892656 MAGEL2 C>T	15	23892656	23892656	C	T	MAGEL2	c.234G>A	NM_019066.4	NP_061939.3:p.(Pro78=)	NC_000015.9:g.23892656C>T	(Likely) benign	1 lab	2ff31eab30
6:44390452 CDC5L C>G	6	44390452	44390452	C	G	CDC5L	c.1310C>G	NM_001253.4	NP_001244.1:p.(Ser437Cys)	NC_000006.11:g.44390452C>G	VUS	1 lab	2ff3af73ea
20:61467844 COL9A3 C>T	20	61467844	61467844	C	T	COL9A3	c.1563C>T	NM_001853.4	NP_001844.3:p.(Ser521=)	NC_000020.10:g.61467844C>T	(Likely) benign	1 lab	2ff448ef63
X:127185207 ACTRT1 G>A	X	127185207	127185207	G	A	ACTRT1	c.979C>T	NM_138289.3	NP_612146.1:p.(Pro327Ser)	NC_000023.10:g.127185207G>A	(Likely) benign	1 lab	2ff8d3fd82
11:674682 DEAF1 A>C	11	674682	674682	A	C	DEAF1	c.1357T>G	NM_021008.3	NP_066288.2:p.(Trp453Gly)	NC_000011.9:g.674682A>C	VUS	1 lab	2ffbe63648
X:49099411 CCDC22 C>A	X	49099411	49099411	C	A	CCDC22	c.421C>A	NM_014008.4	NP_054727.1:p.(Pro141Thr)	NC_000023.10:g.49099411C>A	VUS	1 lab	2ffce14e85
3:46008011 FYCO1 C>G	3	46008011	46008011	C	G	FYCO1	c.2815G>C	NM_024513.3	NP_078789.2:p.(Ala939Pro)	NC_000003.11:g.46008011C>G	(Likely) benign	1 lab	2ffeb6385e
19:57175496 ZNF835 G>A	19	57175496	57175496	G	A	ZNF835	c.1071C>T	NM_001005850.3	NP_001005850.2:p.(Thr357=)	NC_000019.9:g.57175496G>A	(Likely) benign	1 lab	2fff53bc88
12:49488162 DHH T>C	12	49488162	49488162	T	C	DHH	c.134A>G	NM_021044.4	NP_066382.1:p.(Tyr45Cys)	NC_000012.11:g.49488162T>C	VUS	1 lab	30000d1e73
2:60689252 BCL11A CA>C	2	60689252	60689253	CA	C	BCL11A	c.794del	NM_022893.4	NP_075044.2:p.(Leu265ArgfsTer15)	NC_000002.11:g.60689253del	(Likely) pathogenic	1 lab	300313dd61
19:15299800 NOTCH3 C>T	19	15299800	15299800	C	T	NOTCH3	c.1378G>A	NM_000435.2	NP_000426.2:p.(Gly460Ser)	NC_000019.9:g.15299800C>T	VUS	1 lab	30036bcd7f
17:29556423 NF1 T>C	17	29556423	29556423	T	C	NF1	c.2790T>C	NM_000267.3	NP_000258.1:p.(Tyr930=)	NC_000017.10:g.29556423T>C	(Likely) benign	1 lab	30063a36e7
17:78041408 CCDC40 C>A	17	78041408	78041408	C	A	CCDC40	c.1667C>A	NM_001330508.1	NP_001317437.1:p.(Pro556His)	NC_000017.10:g.78041408C>A	(Likely) benign	1 lab	3006748c10
1:116280883 CASQ2 AT>A	1	116280883	116280884	AT	A	CASQ2	c.493del	NM_001232.4	NP_001223.2:p.(Ile165SerfsTer45)	NC_000001.10:g.116280884del	(Likely) pathogenic	1 lab	300852788a
X:24861751 POLA1 A>C	X	24861751	24861751	A	C	POLA1	c.3986A>C	NM_016937.4	NP_058633.2:p.(Lys1329Thr)	NC_000023.10:g.24861751A>C	VUS	1 lab	e952bac2a7
2:87017715 CD8A G>A	2	87017715	87017715	G	A	CD8A	c.139C>T	NM_001145873.1	NP_001139345.1:p.(Leu47=)	NC_000002.11:g.87017715G>A	(Likely) benign	1 lab	30086289f5
2:27445792 CAD C>T	2	27445792	27445792	C	T	CAD	c.696C>T	NM_004341.4	NP_004332.2:p.(Val232=)	NC_000002.11:g.27445792C>T	(Likely) benign	1 lab	30087bffe8
4:103553447 MANBA GA>G	4	103553447	103553458	GA	G	MANBA	c.2416-10del	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103553458del	(Likely) benign	1 lab	300988fa5c
12:53045602 KRT2 T>C	12	53045602	53045602	T	C	KRT2	c.325A>G	NM_000423.3	NP_000414.2:p.(Ser109Gly)	NC_000012.11:g.53045602T>C	VUS	1 lab	e952cd73bb
5:90078951 ADGRV1 T>C	5	90078951	90078951	T	C	ADGRV1	c.13242T>C	NM_032119.4	NP_115495.3:p.(Asp4414=)	NC_000005.9:g.90078951T>C	(Likely) benign	1 lab	300debd4fe
1:158592989 SPTA1 AAGATCAGGAG>A	1	158592989	158593002	AAGATCAGGAG	A	SPTA1	c.5911-17_5911-8del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158592993_158593002del	(Likely) benign	1 lab	300e26bf16
2:69397405 ANTXR1 C>T	2	69397405	69397405	C	T	ANTXR1	c.1073C>T	NM_032208.2	NP_115584.1:p.(Pro358Leu)	NC_000002.11:g.69397405C>T	VUS	1 lab	300f6c9973
19:50412205 NUP62 G>GTGC	19	50412205	50412219	G	GTGC	NUP62	c.857_859dup	NM_016553.4	NP_057637.2:p.(Ser286dup)	NC_000019.9:g.50412217_50412219dup	(Likely) benign	1 lab	3010d433dc
16:2120443 TSC2 T>C	16	2120443	2120443	T	C	TSC2	c.1717-14T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120443T>C	(Likely) benign	1 lab	3011a5eade
1:197093319 ASPM C>T	1	197093319	197093319	C	T	ASPM	c.3311G>A	NM_018136.4	NP_060606.3:p.(Gly1104Asp)	NC_000001.10:g.197093319C>T	(Likely) benign	1 lab	3011d94f40
13:23911438 SACS C>T	13	23911438	23911438	C	T	SACS	c.6577G>A	NM_014363.5	NP_055178.3:p.(Asp2193Asn)	NC_000013.10:g.23911438C>T	VUS	1 lab	30128660e1
14:105416255 AHNAK2 A>T	14	105416255	105416255	A	T	AHNAK2	c.5533T>A	NM_138420.3	NP_612429.2:p.(Ser1845Thr)	NC_000014.8:g.105416255A>T	VUS	1 lab	3013f09a97
22:35783110 HMOX1 C>T	22	35783110	35783110	C	T	HMOX1	c.577C>T	NM_002133.2	NP_002124.1:p.(Pro193Ser)	NC_000022.10:g.35783110C>T	(Likely) benign	1 lab	301604f822
3:132186072 DNAJC13 C>T	3	132186072	132186072	C	T	DNAJC13	c.2123C>T	NM_015268.4	NP_056083.3:p.(Ala708Val)	NC_000003.11:g.132186072C>T	VUS	1 lab	30185324a3
4:56212555 SRD5A3 G>A	4	56212555	56212555	G	A	SRD5A3	c.52G>A	NM_024592.4	NP_078868.1:p.(Val18Met)	NC_000004.11:g.56212555G>A	(Likely) benign	1 lab	3018a11a06
2:131350456 CFC1 G>T	2	131350456	131350456	G	T	CFC1	c.666C>A	NM_032545.3	NP_115934.1:p.(Arg222=)	NC_000002.11:g.131350456G>T	(Likely) benign	1 lab	30191149b2
X:77224964 PGAM4 A>T	X	77224964	77224964	A	T	PGAM4	c.172T>A	NM_001029891.2	NP_001025062.1:p.(Ser58Thr)	NC_000023.10:g.77224964A>T	VUS	1 lab	301a952a17
4:187519155 FAT1 G>T	4	187519155	187519155	G	T	FAT1	c.12228C>A	NM_005245.3	NP_005236.2:p.(Cys4076Ter)	NC_000004.11:g.187519155G>T	VUS	1 lab	301b675596
11:117693150 FXYD2 G>T	11	117693150	117693150	G	T	FXYD2	c.104C>A	NM_021603.3	NP_067614.1:p.(Ala35Asp)	NC_000011.9:g.117693150G>T	VUS	1 lab	301cc9ed9e
15:93543811 CHD2 G>A	15	93543811	93543811	G	A	CHD2	c.4078G>A	NM_001271.3	NP_001262.3:p.(Gly1360Arg)	NC_000015.9:g.93543811G>A	VUS	1 lab	301d8e8b89
8:145773206 ARHGAP39 G>A	8	145773206	145773206	G	A	ARHGAP39	c.1264C>T	NM_001308207.1	NP_001295136.1:p.(Pro422Ser)	NC_000008.10:g.145773206G>A	(Likely) benign	1 lab	301f9e9a4b
X:49086730 CACNA1F C>A	X	49086730	49086730	C	A	CACNA1F	c.769G>T	NM_005183.3	NP_005174.2:p.(Glu257Ter)	NC_000023.10:g.49086730C>A	(Likely) pathogenic	1 lab	30219331d1
19:2251240 AMH T>C	19	2251240	2251240	T	C	AMH	c.967T>C	NM_000479.4	NP_000470.2:p.(Phe323Leu)	NC_000019.9:g.2251240T>C	(Likely) benign	1 lab	3023001d44
17:58740438 PPM1D A>G	17	58740438	58740438	A	G	PPM1D	c.1343A>G	NM_003620.4	NP_003611.1:p.(Asn448Ser)	NC_000017.10:g.58740438A>G	(Likely) benign	1 lab	e956955259
X:153035999 PLXNB3 G>A	X	153035999	153035999	G	A	PLXNB3	c.1981G>A	NM_001163257.1	NP_001156729.1:p.(Gly661Ser)	NC_000023.10:g.153035999G>A	(Likely) benign	1 lab	3024bfa2f4
X:55103060 PAGE2B G>T	X	55103060	55103060	G	T	PAGE2B	c.143G>T	NM_001015038.2	NP_001015038.1:p.(Gly48Val)	NC_000023.10:g.55103060G>T	VUS	1 lab	3026a1445e
11:66482773 SPTBN2 T>G	11	66482773	66482773	T	G	SPTBN2	c.403A>C	NM_006946.4	NP_008877.2:p.(Asn135His)	NC_000011.9:g.66482773T>G	VUS	1 lab	e9589ad301
16:88502679 ZNF469 T>A	16	88502679	88502679	T	A	ZNF469				NC_000016.9:g.88502679T>A	VUS	1 lab	30277ccfb3
1:7797369 CAMTA1 G>A	1	7797369	7797369	G	A	CAMTA1	c.3397G>A	NM_015215.3	NP_056030.1:p.(Asp1133Asn)	NC_000001.10:g.7797369G>A	VUS	1 lab	3029825726
10:54050016 PRKG1 G>A	10	54050016	54050016	G	A	PRKG1	c.1883G>A	NM_001098512.3	NP_001091982.1:p.(Arg628Lys)	NC_000010.10:g.54050016G>A	VUS	1 lab	302a5bf642
14:90450879 TDP1 T>C	14	90450879	90450879	T	C	TDP1	c.904T>C	NM_018319.3	NP_060789.2:p.(Tyr302His)	NC_000014.8:g.90450879T>C	VUS	1 lab	302abed449
6:35477498 TULP1 C>T	6	35477498	35477498	C	T	TULP1	c.631G>A	NM_003322.5	NP_003313.3:p.(Gly211Arg)	NC_000006.11:g.35477498C>T	VUS	1 lab	302af7704b
5:140953563 DIAPH1 TGGAGGA>T	5	140953563	140953597	TGGAGGA	T	DIAPH1	c.1848_1853del	NM_005219.5	NP_005210.3:p.(Pro619_Pro620del)	NC_000005.9:g.140953592_140953597del	(Likely) benign	1 lab	302b48082d
20:17479542 BFSP1 C>T	20	17479542	17479542	C	T	BFSP1	c.879G>A	NM_001195.4	NP_001186.1:p.(Arg293=)	NC_000020.10:g.17479542C>T	(Likely) benign	1 lab	302bc2d29e
18:57569893 PMAIP1 T>C	18	57569893	57569893	T	C	PMAIP1	c.73T>C	NM_021127.2	NP_066950.1:p.(Cys25Arg)	NC_000018.9:g.57569893T>C	VUS	1 lab	302e2b4f04
1:154574926 ADAR C>T	1	154574926	154574926	C	T	ADAR	c.192G>A	NM_001111.5	NP_001102.3:p.(Leu64=)	NC_000001.10:g.154574926C>T	(Likely) benign	1 lab	302e5de43c
9:35657945 RMRP T>C	9	35657945	35657945	T	C	RMRP	n.71A>G	NR_003051.3		NC_000009.11:g.35657945T>C	(Likely) pathogenic	1 lab	3027506957
19:36210405 KMT2B C>T	19	36210405	36210405	C	T	KMT2B	c.398C>T	NM_014727.2	NP_055542.1:p.(Ala133Val)	NC_000019.9:g.36210405C>T	(Likely) benign	1 lab	303318132d
9:98218672 PTCH1 C>T	9	98218672	98218672	C	T	PTCH1	c.2994G>A	NM_001083602.1	NP_001077071.1:p.(Thr998=)	NC_000009.11:g.98218672C>T	(Likely) benign	1 lab	3034d40d57
2:179478642 TTN G>A	2	179478642	179478642	G	A	TTN	c.49368C>T	NM_001267550.1	NP_001254479.1:p.(Arg16456=)	NC_000002.11:g.179478642G>A	(Likely) benign	1 lab	3045b9934e
X:48933268 WDR45 CAA>C	X	48933268	48933271	CAA	C	WDR45	c.659_660del	NM_001029896.2	NP_001025067.1:p.(Phe220Ter)	NC_000023.10:g.48933270_48933271del	(Likely) pathogenic	1 lab	3035ddda07
8:100887687 VPS13B C>T	8	100887687	100887687	C	T	VPS13B	c.11862C>T	NM_017890.4	NP_060360.3:p.(Asn3954=)	NC_000008.10:g.100887687C>T	(Likely) benign	1 lab	3036366f71
X:70586185 TAF1 G>GCTGCTGCGGACAGCAGCTACCATCA	X	70586185	70586217	G	GCTGCTGCGGACAGCAGCTACCATCA	TAF1	c.29_53dup	NM_001286074.1	NP_001273003.1:p.(Ala19AspfsTer50)	NC_000023.10:g.70586193_70586217dup	(Likely) benign	1 lab	3036d58f1f
7:104753321 KMT2E A>C	7	104753321	104753321	A	C	KMT2E	c.5118A>C	NM_182931.3	NP_891847.1:p.(Gln1706His)	NC_000007.13:g.104753321A>C	VUS	1 lab	e95aca7808
19:48342715 CRX GT>G	19	48342715	48342716	GT	G	CRX	c.392del	NM_000554.6	NP_000545.1:p.(Val131GlyfsTer56)	NC_000019.9:g.48342716del	VUS	1 lab	30372bc28f
22:19026403 DGCR2 C>T	22	19026403	19026403	C	T	DGCR2	c.1628G>A	NM_005137.2	NP_005128.1:p.(Arg543His)	NC_000022.10:g.19026403C>T	(Likely) benign	1 lab	3039f45477
X:101910215 GPRASP1 G>A	X	101910215	101910215	G	A	GPRASP1	c.1374G>A	NM_001184727.1	NP_001171656.1:p.(Arg458=)	NC_000023.10:g.101910215G>A	(Likely) benign	1 lab	303a49c7fd
2:230701657 TRIP12 G>A	2	230701657	230701657	G	A	TRIP12	c.1177C>T	NM_001348322.1	NP_001335251.1:p.(Arg393Cys)	NC_000002.11:g.230701657G>A	VUS	1 lab	303becd617
17:3994092 ZZEF1 T>C	17	3994092	3994092	T	C	ZZEF1	c.1946A>G	NM_015113.4	NP_055928.3:p.(Asp649Gly)	NC_000017.10:g.3994092T>C	VUS	1 lab	303c602f07
X:148797788 MAGEA11 T>G	X	148797788	148797788	T	G	MAGEA11	c.642T>G	NM_005366.5	NP_005357.2:p.(Pro214=)	NC_000023.10:g.148797788T>G	(Likely) benign	1 lab	303cbe2181
19:3637592 PIP5K1C C>T	19	3637592	3637592	C	T	PIP5K1C	c.1940G>A	NM_001300849.1	NP_001287778.1:p.(Trp647Ter)	NC_000019.9:g.3637592C>T	VUS	1 lab	30439a786c
X:73641736 SLC16A2 C>T	X	73641736	73641736	C	T	SLC16A2	c.264C>T	NM_006517.4	NP_006508.2:p.(Thr88=)	NC_000023.10:g.73641736C>T	(Likely) benign	1 lab	3044880299
13:45914887 TPT1 CG>C	13	45914887	45914889	CG	C	TPT1	c.61del	NM_003295.4	NP_003286.1:p.(Arg21GlyfsTer46)	NC_000013.10:g.45914889del	VUS	1 lab	3046bb21f8
5:138118862 CTNNA1 T>C	5	138118862	138118862	T	C	CTNNA1	c.106-4T>C	NM_001323982.1	NP_001310911.1:p.?	NC_000005.9:g.138118862T>C	(Likely) benign	1 lab	304ad512ff
15:41687178 NDUFAF1 C>T	15	41687178	41687178	C	T	NDUFAF1	c.638G>A	NM_016013.3	NP_057097.2:p.(Arg213His)	NC_000015.9:g.41687178C>T	VUS	1 lab	304b1a78c2
9:137707451 COL5A1 C>T	9	137707451	137707451	C	T	COL5A1	c.4044C>T	NM_000093.4	NP_000084.3:p.(Gly1348=)	NC_000009.11:g.137707451C>T	(Likely) benign	1 lab	304b3e1187
6:66005794 EYS C>A	6	66005794	66005794	C	A	EYS	c.1985G>T	NM_001142800.1	NP_001136272.1:p.(Arg662Met)	NC_000006.11:g.66005794C>A	(Likely) benign	1 lab	304c0b6841
1:204379273 PPP1R15B T>C	1	204379273	204379273	T	C	PPP1R15B	c.1267A>G	NM_032833.4	NP_116222.4:p.(Asn423Asp)	NC_000001.10:g.204379273T>C	VUS	1 lab	304e3318b4
16:81712025 CMIP T>G	16	81712025	81712025	T	G	CMIP	c.1180T>G	NM_198390.2	NP_938204.2:p.(Ser394Ala)	NC_000016.9:g.81712025T>G	VUS	1 lab	3050c5d0e6
X:49066754 CACNA1F C>T	X	49066754	49066754	C	T	CACNA1F	c.4621+7G>A	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49066754C>T	(Likely) benign	1 lab	3052cd60ed
X:48675011 HDAC6 C>T	X	48675011	48675011	C	T	HDAC6	c.1762C>T	NM_001321226.1	NP_001308155.1:p.(Arg588Cys)	NC_000023.10:g.48675011C>T	VUS	1 lab	3053dc14a1
4:126371392 FAT4 C>T	4	126371392	126371392	C	T	FAT4	c.9227C>T	NM_001291303.1	NP_001278232.1:p.(Thr3076Ile)	NC_000004.11:g.126371392C>T	(Likely) benign	1 lab	3053eb4ace
X:151820123 GABRQ T>A	X	151820123	151820123	T	A	GABRQ	c.1036T>A	NM_018558.3	NP_061028.3:p.(Tyr346Asn)	NC_000023.10:g.151820123T>A	VUS	1 lab	30542373e3
6:133767818 EYA4 G>A	6	133767818	133767818	G	A	EYA4	c.134G>A	NM_004100.4	NP_004091.3:p.(Gly45Asp)	NC_000006.11:g.133767818G>A	VUS	1 lab	305468ef4c
2:209190994 PIKFYVE C>T	2	209190994	209190994	C	T	PIKFYVE	c.3459C>T	NM_015040.3	NP_055855.2:p.(Ala1153=)	NC_000002.11:g.209190994C>T	(Likely) benign	1 lab	3055b26449
4:187540051 FAT1 C>A	4	187540051	187540051	C	A	FAT1	c.7689G>T	NM_005245.3	NP_005236.2:p.(Val2563=)	NC_000004.11:g.187540051C>A	(Likely) benign	1 lab	305628514d
21:47539033 COL6A2 G>A	21	47539033	47539033	G	A	COL6A2	c.1269G>A	NM_058175.2	NP_478055.2:p.(Pro423=)	NC_000021.8:g.47539033G>A	(Likely) benign	1 lab	3057205798
2:179575470 TTN C>T	2	179575470	179575470	C	T	TTN	c.28354G>A	NM_001267550.1	NP_001254479.1:p.(Ala9452Thr)	NC_000002.11:g.179575470C>T	VUS	1 lab	30575a7921
3:111766748 TMPRSS7 AC>A	3	111766748	111766749	AC	A	TMPRSS7	c.894del	NM_001395507.1	NP_001382436.1:p.(Cys299ValfsTer6)	NC_000003.11:g.111766749del	(Likely) benign	1 lab	3058138f15
19:59023283 SLC27A5 G>T	19	59023283	59023283	G	T	SLC27A5	c.40C>A	NM_012254.2	NP_036386.1:p.(Leu14Met)	NC_000019.9:g.59023283G>T	VUS	1 lab	3059790de5
8:145583511 SLC52A2 T>C	8	145583511	145583511	T	C	SLC52A2	c.359T>C	NM_024531.4	NP_078807.1:p.(Val120Ala)	NC_000008.10:g.145583511T>C	(Likely) benign	1 lab	3059dced0c
10:123279677 FGFR2 G>A	10	123279677	123279677	G	A	FGFR2	c.755C>T	NM_000141.4	NP_000132.3:p.(Ser252Leu)	NC_000010.10:g.123279677G>A	(Likely) pathogenic	1 lab	305e86e915
21:34037326 SYNJ1 C>T	21	34037326	34037326	C	T	SYNJ1	c.2318G>A	NM_203446.2	NP_982271.2:p.(Arg773Gln)	NC_000021.8:g.34037326C>T	VUS	1 lab	305eaf1319
1:7798485 CAMTA1 G>A	1	7798485	7798485	G	A	CAMTA1	c.4125G>A	NM_015215.3	NP_056030.1:p.(Gly1375=)	NC_000001.10:g.7798485G>A	(Likely) benign	1 lab	305ebcc456
19:50101174 PRR12 C>G	19	50101174	50101174	C	G	PRR12	c.3582C>G	NM_020719.2	NP_065770.1:p.(Thr1194=)	NC_000019.9:g.50101174C>G	(Likely) benign	1 lab	305f98003f
5:180475236 BTNL9 T>G	5	180475236	180475236	T	G	BTNL9	c.419T>G	NM_152547.5	NP_689760.2:p.(Phe140Cys)	NC_000005.9:g.180475236T>G	VUS	1 lab	305ff13112
17:40481762 STAT3 T>C	17	40481762	40481762	T	C	STAT3	c.1139+3A>G	NM_139276.2	NP_644805.1:p.?	NC_000017.10:g.40481762T>C	VUS	1 lab	305ff2fde1
6:56337015 DST G>A	6	56337015	56337015	G	A	DST	c.15643C>T	NM_001144769.2	NP_001138241.1:p.(Arg5215Cys)	NC_000006.11:g.56337015G>A	VUS	1 lab	306042fa98
3:10417177 ATP2B2 C>T	3	10417177	10417177	C	T	ATP2B2	c.1218G>A	NM_001330611.2	NP_001317540.1:p.(Leu406=)	NC_000003.11:g.10417177C>T	(Likely) benign	1 lab	306131a69b
21:44485794 CBS C>T	21	44485794	44485794	C	T	CBS	c.148G>A	NM_001321072.1	NP_001308001.1:p.(Ala50Thr)	NC_000021.8:g.44485794C>T	VUS	1 lab	306186582e
17:29554571 NF1 CA>TG	17	29554571	29554572	CA	TG	NF1	c.2356_2357inv	NM_000267.3	NP_000258.1:p.(Gln786Ter)	NC_000017.10:g.29554571_29554572inv	(Likely) pathogenic	1 lab	3066aae27d
19:45991731 RTN2 G>T	19	45991731	45991731	G	T	RTN2	c.1495C>A	NM_005619.4	NP_005610.1:p.(Gln499Lys)	NC_000019.9:g.45991731G>T	VUS	1 lab	3068f3e9ea
1:235897821 LYST C>T	1	235897821	235897821	C	T	LYST	c.8497G>A	NM_001301365.1	NP_001288294.1:p.(Ala2833Thr)	NC_000001.10:g.235897821C>T	(Likely) benign	1 lab	3069546fb9
10:123247514 FGFR2 C>A	10	123247514	123247514	C	A	FGFR2	c.1977G>T	NM_000141.4	NP_000132.3:p.(Lys659Asn)	NC_000010.10:g.123247514C>A	(Likely) pathogenic	1 lab	306a1d43c2
5:178421808 GRM6 C>T	5	178421808	178421808	C	T	GRM6	c.138G>A	NM_000843.4	NP_000834.2:p.(Pro46=)	NC_000005.9:g.178421808C>T	(Likely) benign	1 lab	306d8ae6c6
1:984814 AGRN C>T	1	984814	984814	C	T	AGRN				NC_000001.10:g.984814C>T	(Likely) benign	1 lab	306d8e8b4f
9:27566849 C9orf72 C>T	9	27566849	27566849	C	T	C9orf72	c.270G>A	NM_001256054.1	NP_001242983.1:p.(Lys90=)	NC_000009.11:g.27566849C>T	(Likely) benign	1 lab	306ecdbb14
16:2134363 TSC2 G>T	16	2134363	2134363	G	T	TSC2	c.4140G>T	NM_000548.3	NP_000539.2:p.(Gln1380His)	NC_000016.9:g.2134363G>T	VUS	1 lab	306f137069
19:13363843 CACNA1A G>C	19	13363843	13363843	G	C	CACNA1A	c.4840C>G	NM_023035.2	NP_075461.2:p.(Leu1614Val)	NC_000019.9:g.13363843G>C	(Likely) benign	1 lab	3070f9b7b3
X:3240736 MXRA5 G>T	X	3240736	3240736	G	T	MXRA5	c.2990C>A	NM_015419.3	NP_056234.2:p.(Thr997Asn)	NC_000023.10:g.3240736G>T	(Likely) benign	1 lab	3070ffb8bc
1:114440516 AP4B1 A>G	1	114440516	114440516	A	G	AP4B1	c.1248T>C	NM_006594.4	NP_006585.2:p.(Thr416=)	NC_000001.10:g.114440516A>G	(Likely) benign	1 lab	3072621ccc
16:2134522 TSC2 G>A	16	2134522	2134522	G	A	TSC2	c.4299G>A	NM_000548.3	NP_000539.2:p.(Ser1433=)	NC_000016.9:g.2134522G>A	(Likely) benign	1 lab	307325de38
3:57994540 FLNB G>A	3	57994540	57994540	G	A	FLNB	c.249G>A	NM_001164317.1	NP_001157789.1:p.(Ala83=)	NC_000003.11:g.57994540G>A	(Likely) benign	1 lab	3074d9a9e2
15:73615394 HCN4 C>T	15	73615394	73615394	C	T	HCN4	c.3040G>A	NM_005477.2	NP_005468.1:p.(Ala1014Thr)	NC_000015.9:g.73615394C>T	(Likely) benign	1 lab	3075040573
2:98350022 ZAP70 G>A	2	98350022	98350022	G	A	ZAP70	c.853G>A	NM_001079.3	NP_001070.2:p.(Asp285Asn)	NC_000002.11:g.98350022G>A	VUS	1 lab	30755da519
5:112676258 MCC A>C	5	112676258	112676258	A	C	MCC	c.585T>G	NM_001085377.1	NP_001078846.1:p.(Ile195Met)	NC_000005.9:g.112676258A>C	(Likely) benign	1 lab	3075d17ff8
19:45916982 ERCC1 C>T	19	45916982	45916982	C	T	ERCC1	c.796G>A	NM_001983.3	NP_001974.1:p.(Ala266Thr)	NC_000019.9:g.45916982C>T	VUS	1 lab	3076b09ecc
18:57106930 CCBE1 C>T	18	57106930	57106930	C	T	CCBE1	c.894G>A	NM_133459.4	NP_597716.1:p.(Lys298=)	NC_000018.9:g.57106930C>T	(Likely) benign	1 lab	3076e26db4
2:86075231 ST3GAL5 C>T	2	86075231	86075231	C	T	ST3GAL5	c.31G>A	NM_001354248.1	NP_001341177.1:p.(Val11Met)	NC_000002.11:g.86075231C>T	(Likely) benign	1 lab	30770e696f
1:220364511 RAB3GAP2 A>C	1	220364511	220364511	A	C	RAB3GAP2	c.1386T>G	NM_012414.3	NP_036546.2:p.(Ala462=)	NC_000001.10:g.220364511A>C	(Likely) benign	1 lab	3077494ca6
2:235961376 SH3BP4 C>G	2	235961376	235961376	C	G	SH3BP4	c.2649C>G	NM_014521.2	NP_055336.1:p.(Asn883Lys)	NC_000002.11:g.235961376C>G	VUS	1 lab	3077814cdf
X:108904849 ACSL4 T>C	X	108904849	108904849	T	C	ACSL4	c.1731A>G	NM_022977.2	NP_075266.1:p.(Leu577=)	NC_000023.10:g.108904849T>C	(Likely) benign	1 lab	30778a9a94
16:2034766 GFER G>T	16	2034766	2034766	G	T	GFER	c.277G>T	NM_005262.2	NP_005253.3:p.(Glu93Ter)	NC_000016.9:g.2034766G>T	(Likely) pathogenic	1 lab	3078077685
5:23522798 PRDM9 C>A	5	23522798	23522798	C	A	PRDM9	c.686C>A	NM_020227.3	NP_064612.2:p.(Ala229Glu)	NC_000005.9:g.23522798C>A	(Likely) benign	1 lab	30786d788f
2:73646391 ALMS1 A>C	2	73646391	73646391	A	C	ALMS1	c.594A>C	NM_015120.4	NP_055935.4:p.(Gln198His)	NC_000002.11:g.73646391A>C	(Likely) benign	1 lab	3079d90f6c
11:117261903 CEP164 G>A	11	117261903	117261903	G	A	CEP164	c.2255G>A	NM_014956.4	NP_055771.4:p.(Arg752Lys)	NC_000011.9:g.117261903G>A	(Likely) benign	1 lab	307a58ab60
10:75867110 VCL C>T	10	75867110	75867110	C	T	VCL	c.2557C>T	NM_014000.3	NP_054706.1:p.(Arg853Ter)	NC_000010.10:g.75867110C>T	(Likely) pathogenic	1 lab	e965a3d433
19:7516046 ARHGEF18 C>G	19	7516046	7516046	C	G	ARHGEF18	c.1749C>G	NM_001367823.1	NP_001354752.1:p.(Asn583Lys)	NC_000019.9:g.7516046C>G	VUS	1 lab	307ee814c5
13:111164258 COL4A2 G>T	13	111164258	111164258	G	T	COL4A2	c.4882-23G>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111164258G>T	(Likely) benign	1 lab	307fd155ce
11:66411150 RBM14-RBM4 G>T	11	66411150	66411150	G	T	RBM14-RBM4	c.567G>T	NM_001198845.1	NP_001185774.1:p.(Ala189=)	NC_000011.9:g.66411150G>T	(Likely) benign	1 lab	307fdc8b18
18:6942147 LAMA1 G>T	18	6942147	6942147	G	T	LAMA1	c.9159C>A	NM_005559.3	NP_005550.2:p.(Ser3053=)	NC_000018.9:g.6942147G>T	(Likely) benign	1 lab	30805d6e7a
16:2287512 DNASE1L2 T>C	16	2287512	2287512	T	C	DNASE1L2	c.453T>C	NM_001374.3	NP_001365.1:p.(Ala151=)	NC_000016.9:g.2287512T>C	(Likely) benign	1 lab	30824ac291
16:75579775 TMEM231 C>T	16	75579775	75579775	C	T	TMEM231	c.387G>A	NM_001077418.3	NP_001070886.1:p.(Thr129=)	NC_000016.9:g.75579775C>T	(Likely) benign	1 lab	30835789f6
1:5947482 NPHP4 C>T	1	5947482	5947482	C	T	NPHP4	c.2349G>A	NM_015102.4	NP_055917.1:p.(Glu783=)	NC_000001.10:g.5947482C>T	(Likely) benign	1 lab	308580e392
15:75644547 NEIL1 A>T	15	75644547	75644547	A	T	NEIL1	c.530A>T	NM_024608.3	NP_078884.2:p.(Tyr177Phe)	NC_000015.9:g.75644547A>T	VUS	1 lab	3086a205d5
6:64430692 EYS G>C	6	64430692	64430692	G	C	EYS	c.9235C>G	NM_001142800.1	NP_001136272.1:p.(Leu3079Val)	NC_000006.11:g.64430692G>C	VUS	1 lab	3087758f0e
1:200971382 KIF21B G>A	1	200971382	200971382	G	A	KIF21B	c.1309C>T	NM_017596.4	NP_060066.2:p.(Arg437Trp)	NC_000001.10:g.200971382G>A	VUS	1 lab	e965ab6af2
5:131630604 SLC22A4 C>A	5	131630604	131630604	C	A	SLC22A4	c.295C>A	NM_003059.3	NP_003050.2:p.(Pro99Thr)	NC_000005.9:g.131630604C>A	VUS	1 lab	3088adff63
1:152284655 FLG T>C	1	152284655	152284655	T	C	FLG	c.2707A>G	NM_002016.1	NP_002007.1:p.(Arg903Gly)	NC_000001.10:g.152284655T>C	(Likely) benign	1 lab	308b30c4fa
13:110830269 COL4A1 C>T	13	110830269	110830269	C	T	COL4A1	c.2636G>A	NM_001845.5	NP_001836.3:p.(Gly879Glu)	NC_000013.10:g.110830269C>T	(Likely) pathogenic	1 lab	308d8c12a8
11:8123056 TUB G>A	11	8123056	8123056	G	A	TUB	c.1576G>A	NM_003320.4	NP_003311.2:p.(Gly526Ser)	NC_000011.9:g.8123056G>A	VUS	1 lab	308ed380fa
10:31810514 ZEB1 A>G	10	31810514	31810514	A	G	ZEB1	c.1597A>G	NM_001323638.1	NP_001310567.1:p.(Thr533Ala)	NC_000010.10:g.31810514A>G	VUS	1 lab	3090fd57bd
14:23522846 CDH24 C>T	14	23522846	23522846	C	T	CDH24	c.1085G>A	NM_022478.3	NP_071923.2:p.(Arg362His)	NC_000014.8:g.23522846C>T	(Likely) benign	1 lab	30922391c3
15:70959265 UACA T>G	15	70959265	70959265	T	G	UACA	c.3719A>C	NM_001008224.2	NP_001008225.1:p.(Lys1240Thr)	NC_000015.9:g.70959265T>G	VUS	1 lab	30932f73bc
6:146625885 GRM1 G>A	6	146625885	146625885	G	A	GRM1	c.1089G>A	NM_001278065.1	NP_001264994.1:p.(Thr363=)	NC_000006.11:g.146625885G>A	(Likely) benign	1 lab	3095a8565a
19:17950381 JAK3 C>CT	19	17950381	17950382	C	CT	JAK3	c.1345dup	NM_000215.3	NP_000206.2:p.(Ser449LysfsTer71)	NC_000019.9:g.17950382dup	(Likely) pathogenic	1 lab	3096e7be91
7:102194830 SPDYE2 C>T	7	102194830	102194830	C	T	SPDYE2	c.185C>T	NM_001031618.3	NP_001026789.2:p.(Pro62Leu)	NC_000007.13:g.102194830C>T	(Likely) benign	1 lab	3097212c6e
18:74091518 ZNF516 G>A	18	74091518	74091518	G	A	ZNF516	c.2552C>T	NM_014643.3	NP_055458.1:p.(Ser851Phe)	NC_000018.9:g.74091518G>A	VUS	1 lab	3098e61b5c
X:49106657 CCDC22 C>T	X	49106657	49106657	C	T	CCDC22	c.1819C>T	NM_014008.4	NP_054727.1:p.(Arg607Trp)	NC_000023.10:g.49106657C>T	VUS	1 lab	309acf5662
9:135983568 RALGDS A>T	9	135983568	135983568	A	T	RALGDS	c.1004T>A	NM_006266.4	NP_006257.1:p.(Leu335Gln)	NC_000009.11:g.135983568A>T	(Likely) benign	1 lab	309ef6d714
7:158706969 DYNC2I1 T>C	7	158706969	158706969	T	C	DYNC2I1	c.1748T>C	NM_018051.4	NP_060521.4:p.(Ile583Thr)	NC_000007.13:g.158706969T>C	VUS	1 lab	309fc02e87
16:88782106 PIEZO1 C>CCGAGT	16	88782106	88782112	C	CCGAGT	PIEZO1	c.7468_7472dup	NM_001142864.4	NP_001136336.2:p.(Glu2492LeufsTer24)	NC_000016.9:g.88782108_88782112dup	VUS	1 lab	e970d20c65
X:107400469 COL4A6 C>T	X	107400469	107400469	C	T	COL4A6	c.4885G>A	NM_001287758.1	NP_001274687.1:p.(Gly1629Ser)	NC_000023.10:g.107400469C>T	VUS	1 lab	30a713bf66
7:94057008 COL1A2 G>A	7	94057008	94057008	G	A	COL1A2	c.3337G>A	NM_000089.3	NP_000080.2:p.(Asp1113Asn)	NC_000007.13:g.94057008G>A	VUS	1 lab	30a7b02e2e
19:6692968 C3 C>T	19	6692968	6692968	C	T	C3	c.3357G>A	NM_000064.2	NP_000055.2:p.(Gln1119=)	NC_000019.9:g.6692968C>T	(Likely) benign	1 lab	30a8236712
4:183245224 TENM3 A>C	4	183245224	183245224	A	C	TENM3	c.51A>C	NM_001080477.3	NP_001073946.1:p.(Arg17=)	NC_000004.11:g.183245224A>C	(Likely) benign	1 lab	30aaf3496a
X:108696904 GUCY2F T>C	X	108696904	108696904	T	C	GUCY2F	c.1217A>G	NM_001522.2	NP_001513.2:p.(Tyr406Cys)	NC_000023.10:g.108696904T>C	VUS	1 lab	30ac55f225
22:32871356 FBXO7 G>A	22	32871356	32871356	G	A	FBXO7	c.8G>A	NM_001033024.1	NP_001028196.1:p.(Arg3Gln)	NC_000022.10:g.32871356G>A	(Likely) benign	1 lab	30aedc1196
9:139393398 NOTCH1 C>G	9	139393398	139393398	C	G	NOTCH1	c.6133G>C	NM_017617.5	NP_060087.3:p.(Val2045Leu)	NC_000009.11:g.139393398C>G	(Likely) benign	1 lab	30b169a04e
12:7080101 EMG1 T>C	12	7080101	7080101	T	C	EMG1	c.15T>C	NM_006331.7	NP_006322.4:p.(Ser5=)	NC_000012.11:g.7080101T>C	(Likely) benign	1 lab	30b1d4c4fa
17:29562971 NF1 T>G	17	29562971	29562971	T	G	NF1	c.3906T>G	NM_000267.3	NP_000258.1:p.(Asp1302Glu)	NC_000017.10:g.29562971T>G	(Likely) benign	1 lab	30b2d5f801
10:30638104 MTPAP C>G	10	30638104	30638104	C	G	MTPAP	c.101G>C	NM_018109.3	NP_060579.3:p.(Gly34Ala)	NC_000010.10:g.30638104C>G	(Likely) benign	1 lab	30b2f6345a
7:128494898 FLNC A>T	7	128494898	128494898	A	T	FLNC	c.7067A>T	NM_001458.4	NP_001449.3:p.(Lys2356Ile)	NC_000007.13:g.128494898A>T	VUS	1 lab	30b2f9a54f
11:70505962 SHANK2 C>T	11	70505962	70505962	C	T	SHANK2	c.2032G>A	NM_012309.5	NP_036441.2:p.(Gly678Arg)	NC_000011.9:g.70505962C>T	VUS	1 lab	e9716b5183
5:41158847 C6 C>T	5	41158847	41158847	C	T	C6	c.1897G>A	NM_001115131.2	NP_001108603.2:p.(Val633Ile)	NC_000005.9:g.41158847C>T	(Likely) benign	1 lab	30b621e13f
5:156668674 ITK G>A	5	156668674	156668674	G	A	ITK	c.1004G>A	NM_005546.3	NP_005537.3:p.(Arg335Gln)	NC_000005.9:g.156668674G>A	VUS	1 lab	30b63ab489
1:244217442 ZBTB18 C>CA	1	244217442	244217447	C	CA	ZBTB18	c.371dup	NM_205768.3	NP_991331.1:p.(Lys125GlufsTer43)	NC_000001.10:g.244217447dup	(Likely) pathogenic	1 lab	e9721fcb72
16:31478027 ARMC5 G>T	16	31478027	31478027	G	T	ARMC5	c.2721G>T	NM_001301820.1	NP_001288749.1:p.(Leu907=)	NC_000016.9:g.31478027G>T	(Likely) benign	1 lab	30b74fc7a1
12:49428717 KMT2D G>A	12	49428717	49428717	G	A	KMT2D	c.10233C>T	NM_003482.3	NP_003473.3:p.(Asp3411=)	NC_000012.11:g.49428717G>A	(Likely) benign	1 lab	30b7d38577
1:2234441 SKI A>T	1	2234441	2234441	A	T	SKI	c.994A>T	NM_003036.3	NP_003027.1:p.(Ile332Leu)	NC_000001.10:g.2234441A>T	(Likely) benign	1 lab	30b85945a1
18:43456269 EPG5 G>A	18	43456269	43456269	G	A	EPG5	c.5981C>T	NM_020964.3	NP_066015.2:p.(Thr1994Ile)	NC_000018.9:g.43456269G>A	VUS	1 lab	30b9d2614c
16:89347986 ANKRD11 T>C	16	89347986	89347986	T	C	ANKRD11	c.4964A>G	NM_001256182.1	NP_001243111.1:p.(Lys1655Arg)	NC_000016.9:g.89347986T>C	(Likely) benign	1 lab	30bb2bc9df
9:32543134 TOPORS G>A	9	32543134	32543134	G	A	TOPORS	c.1389C>T	NM_005802.4	NP_005793.2:p.(Thr463=)	NC_000009.11:g.32543134G>A	(Likely) benign	1 lab	30bb767c13
19:56369731 NLRP4 C>T	19	56369731	56369731	C	T	NLRP4	c.972C>T	NM_134444.4	NP_604393.2:p.(Ala324=)	NC_000019.9:g.56369731C>T	(Likely) benign	1 lab	30bd3dd859
13:32915302 BRCA2 A>G	13	32915302	32915302	A	G	BRCA2	c.6810A>G	NM_000059.3	NP_000050.2:p.(Gly2270=)	NC_000013.10:g.32915302A>G	(Likely) benign	1 lab	30bd6f08d7
X:123554416 TENM1 G>A	X	123554416	123554416	G	A	TENM1	c.4727C>T	NM_001163278.1	NP_001156750.1:p.(Thr1576Ile)	NC_000023.10:g.123554416G>A	VUS	1 lab	30be6717ba
3:123385217 MYLK G>A	3	123385217	123385217	G	A	MYLK	c.3704-24C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123385217G>A	(Likely) benign	1 lab	30be7eaa72
X:53616678 HUWE1 C>T	X	53616678	53616678	C	T	HUWE1	c.4290G>A	NM_031407.6	NP_113584.3:p.(Pro1430=)	NC_000023.10:g.53616678C>T	(Likely) benign	1 lab	30beb2ca06
1:13840058 LRRC38 C>T	1	13840058	13840058	C	T	LRRC38	c.31G>A	NM_001010847.2	NP_001010847.1:p.(Ala11Thr)	NC_000001.10:g.13840058C>T	(Likely) benign	1 lab	30bf277252
13:31860932 B3GLCT T>C	13	31860932	31860932	T	C	B3GLCT	c.1040T>C	NM_194318.3	NP_919299.3:p.(Ile347Thr)	NC_000013.10:g.31860932T>C	VUS	1 lab	30bf511714
19:38689053 SIPA1L3 C>T	19	38689053	38689053	C	T	SIPA1L3	c.4865C>T	NM_015073.2	NP_055888.1:p.(Ser1622Leu)	NC_000019.9:g.38689053C>T	VUS	1 lab	30c0848c42
19:39880749 PAF1 A>C	19	39880749	39880749	A	C	PAF1	c.130T>G	NM_019088.4	NP_061961.2:p.(Phe44Val)	NC_000019.9:g.39880749A>C	VUS	1 lab	30c12f9c90
17:29654776 NF1 C>CT	17	29654776	29654777	C	CT	NF1	c.5465_5466insT	NM_000267.3	NP_000258.1:p.(Lys1823GlnfsTer18)	NC_000017.10:g.29654776_29654777insT	(Likely) pathogenic	1 lab	30c1ef8d2a
17:60023947 MED13 T>C	17	60023947	60023947	T	C	MED13	c.6407A>G	NM_005121.2	NP_005112.2:p.(Gln2136Arg)	NC_000017.10:g.60023947T>C	VUS	1 lab	30c1f9260f
15:91304204 BLM A>G	15	91304204	91304204	A	G	BLM	c.476A>G	NM_001287248.1	NP_001274177.1:p.(Asn159Ser)	NC_000015.9:g.91304204A>G	(Likely) benign	1 lab	30c29109f9
9:127269521 NR5A1 CACTT>C	9	127269521	127269527	CACTT	C	NR5A1	c.-16+3_-16+6del	NM_004959.5	NP_004950.2:p.?	NC_000009.11:g.127269524_127269527del	VUS	1 lab	30c29b91d6
17:5462257 NLRP1 T>C	17	5462257	5462257	T	C	NLRP1	c.1759A>G	NM_033004.4	NP_127497.1:p.(Ser587Gly)	NC_000017.10:g.5462257T>C	VUS	1 lab	30c31dd913
18:19444499 MIB1 G>A	18	19444499	19444499	G	A	MIB1	c.2893G>A	NM_020774.3	NP_065825.1:p.(Val965Met)	NC_000018.9:g.19444499G>A	VUS	1 lab	30c5f42bfd
1:6278398 RNF207 G>A	1	6278398	6278398	G	A	RNF207	c.1702G>A	NM_207396.3	NP_997279.2:p.(Asp568Asn)	NC_000001.10:g.6278398G>A	(Likely) benign	1 lab	30c916d81c
15:38786861 RASGRP1 A>C	15	38786861	38786861	A	C	RASGRP1	c.1981T>G	NM_005739.3	NP_005730.2:p.(Ser661Ala)	NC_000015.9:g.38786861A>C	VUS	1 lab	30c9dfe6ec
X:103359902 ZCCHC18 A>G	X	103359902	103359902	A	G	ZCCHC18	c.1100A>G	NM_001143978.3	NP_001137450.1:p.(Asn367Ser)	NC_000023.10:g.103359902A>G	(Likely) benign	1 lab	30ca4b5332
7:1536798 INTS1 C>T	7	1536798	1536798	C	T	INTS1	c.1578G>A	NM_001080453.3	NP_001073922.2:p.(Pro526=)	NC_000007.13:g.1536798C>T	(Likely) benign	1 lab	30ca764678
17:40362515 STAT5B C>A	17	40362515	40362515	C	A	STAT5B	c.1681G>T	NM_012448.3	NP_036580.2:p.(Glu561Ter)	NC_000017.10:g.40362515C>A	(Likely) pathogenic	1 lab	30cbf35e21
X:64949348 MSN C>T	X	64949348	64949348	C	T	MSN	c.241C>T	NM_002444.2	NP_002435.1:p.(Arg81Cys)	NC_000023.10:g.64949348C>T	VUS	1 lab	30cd19f56e
1:152283819 FLG A>T	1	152283819	152283819	A	T	FLG	c.3543T>A	NM_002016.1	NP_002007.1:p.(His1181Gln)	NC_000001.10:g.152283819A>T	(Likely) benign	1 lab	30ce4525f8
2:129026332 HS6ST1 G>A	2	129026332	129026332	G	A	HS6ST1	c.640C>T	NM_004807.2	NP_004798.3:p.(Arg214Cys)	NC_000002.11:g.129026332G>A	VUS	1 lab	30d2f5e2c4
2:53956710 GPR75-ASB3 G>GTT	2	53956710	53956712	G	GTT	GPR75-ASB3	c.470-4_470-3insAA	NM_001164165.1	NP_001157637.1:p.?	NC_000002.11:g.53956711_53956712insTT	VUS	1 lab	30d385ce10
22:19709830 SEPTIN5 AC>A	22	19709830	19709831	AC	A	SEPTIN5	c.1022del	NM_002688.6	NP_002679.2:p.(Thr341MetfsTer7)	NC_000022.10:g.19709831del	VUS	1 lab	30d3b353c0
2:238268724 COL6A3 G>A	2	238268724	238268724	G	A	COL6A3	c.6282+7C>T	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238268724G>A	(Likely) benign	1 lab	30d3f77907
9:117188508 WHRN G>A	9	117188508	117188508	G	A	WHRN	c.1149C>T	NM_015404.3	NP_056219.3:p.(Thr383=)	NC_000009.11:g.117188508G>A	(Likely) benign	1 lab	30d493bbd5
16:2125898 TSC2 G>A	16	2125898	2125898	G	A	TSC2	c.2639+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125898G>A	(Likely) pathogenic	1 lab	30d4ab9fec
13:110859142 COL4A1 GA>T	13	110859142	110859143	GA	T	COL4A1	c.807+69_807+70delinsA	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110859142_110859143delinsT	(Likely) benign	1 lab	30d5595b1e
15:23890006 MAGEL2 T>C	15	23890006	23890006	T	C	MAGEL2	c.2884A>G	NM_019066.4	NP_061939.3:p.(Ser962Gly)	NC_000015.9:g.23890006T>C	(Likely) benign	1 lab	30da4224bf
X:135432422 ADGRG4 C>T	X	135432422	135432422	C	T	ADGRG4	c.6557C>T	NM_153834.3	NP_722576.3:p.(Ser2186Phe)	NC_000023.10:g.135432422C>T	VUS	1 lab	30dab6363d
X:18631388 CDKL5 G>C	X	18631388	18631388	G	C	CDKL5	c.2269G>C	NM_003159.3	NP_003150.1:p.(Asp757His)	NC_000023.10:g.18631388G>C	VUS	1 lab	e9795d7f0a
11:66617523 PC C>T	11	66617523	66617523	C	T	PC	c.2783G>A	NM_001040716.1	NP_001035806.1:p.(Arg928Gln)	NC_000011.9:g.66617523C>T	VUS	1 lab	30dc763f3f
16:79633795 MAF G>T	16	79633795	79633795	G	T	MAF	c.5C>A	NM_001031804.2	NP_001026974.1:p.(Ala2Glu)	NC_000016.9:g.79633795G>T	VUS	1 lab	30dcdaf2cc
X:132092590 HS6ST2 G>A	X	132092590	132092590	G	A	HS6ST2	c.41C>T	NM_001077188.1	NP_001070656.1:p.(Pro14Leu)	NC_000023.10:g.132092590G>A	VUS	1 lab	30dcf1048e
19:36579933 WDR62 C>T	19	36579933	36579933	C	T	WDR62	c.1769-7C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36579933C>T	(Likely) benign	1 lab	30dd71fcf1
17:6380340 PITPNM3 AG>A	17	6380340	6380344	AG	A	PITPNM3	c.1085+8del	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6380344del	(Likely) benign	1 lab	30dee3605e
4:123258038 BLTP1 G>C	4	123258038	123258038	G	C	BLTP1	c.12013G>C	NM_015312.3	NP_056127.2:p.(Val4005Leu)	NC_000004.11:g.123258038G>C	(Likely) benign	1 lab	30e20488da
7:103230146 RELN C>T	7	103230146	103230146	C	T	RELN	c.4042G>A	NM_173054.2	NP_774959.1:p.(Glu1348Lys)	NC_000007.13:g.103230146C>T	VUS	1 lab	30e312e3aa
16:16244025 ABCC6 A>G	16	16244025	16244025	A	G	ABCC6	c.4135T>C	NM_001351800.1	NP_001338729.1:p.(Phe1379Leu)	NC_000016.9:g.16244025A>G	VUS	1 lab	30e39519d1
21:46900386 COL18A1 C>T	21	46900386	46900386	C	T	COL18A1	c.1404C>T	NM_130445.2	NP_569712.2:p.(Phe468=)	NC_000021.8:g.46900386C>T	(Likely) benign	1 lab	30e5a81474
5:171777382 SH3PXD2B C>T	5	171777382	171777382	C	T	SH3PXD2B	c.997G>A	NM_001017995.2	NP_001017995.1:p.(Gly333Ser)	NC_000005.9:g.171777382C>T	(Likely) benign	1 lab	30e5d30108
1:74835235 TNNI3K G>A	1	74835235	74835235	G	A	TNNI3K	c.1633G>A	NM_015978.2	NP_057062.1:p.(Gly545Ser)	NC_000001.10:g.74835235G>A	VUS	1 lab	30ea769203
2:166901563 SCN1A G>A	2	166901563	166901563	G	A	SCN1A	c.1652C>T	NM_001165963.2	NP_001159435.1:p.(Ser551Phe)	NC_000002.11:g.166901563G>A	VUS	1 lab	30ec08b8c0
1:39853204 MACF1 G>A	1	39853204	39853204	G	A	MACF1	c.8504G>A	NM_012090.5	NP_036222.3:p.(Arg2835Lys)	NC_000001.10:g.39853204G>A	(Likely) benign	1 lab	30ec378474
1:39757680 MACF1 C>T	1	39757680	39757680	C	T	MACF1	c.1899C>T	NM_012090.5	NP_036222.3:p.(Gly633=)	NC_000001.10:g.39757680C>T	(Likely) benign	1 lab	30eefb69d4
9:36246023 GNE C>T	9	36246023	36246023	C	T	GNE	c.709+5G>A	NM_001128227.3	NP_001121699.1:p.?	NC_000009.11:g.36246023C>T	(Likely) benign	1 lab	e97a36cd65
3:188327213 LPP C>A	3	188327213	188327213	C	A	LPP	c.694C>A	NM_005578.4	NP_005569.1:p.(Pro232Thr)	NC_000003.11:g.188327213C>A	(Likely) benign	1 lab	30efa144fd
22:36661421 APOL1 G>T	22	36661421	36661421	G	T	APOL1	c.587G>T	NM_145343.2	NP_663318.1:p.(Gly196Val)	NC_000022.10:g.36661421G>T	(Likely) benign	1 lab	30efa65cdd
11:59560967 STX3 G>A	11	59560967	59560967	G	A	STX3	c.655G>A	NM_004177.4	NP_004168.1:p.(Ala219Thr)	NC_000011.9:g.59560967G>A	VUS	1 lab	30efa820c9
2:47238547 TTC7A G>A	2	47238547	47238547	G	A	TTC7A	c.1365G>A	NM_001288951.1	NP_001275880.1:p.(Ala455=)	NC_000002.11:g.47238547G>A	(Likely) benign	1 lab	30f0d52231
5:148679852 AFAP1L1 T>G	5	148679852	148679852	T	G	AFAP1L1	c.164T>G	NM_152406.4	NP_689619.1:p.(Leu55Arg)	NC_000005.9:g.148679852T>G	VUS	1 lab	30f1289848
7:117235040 CFTR C>A	7	117235040	117235040	C	A	CFTR	c.2547C>A	NM_000492.3	NP_000483.3:p.(Tyr849Ter)	NC_000007.13:g.117235040C>A	(Likely) pathogenic	1 lab	30f195f077
X:29973913 IL1RAPL1 C>G	X	29973913	29973913	C	G	IL1RAPL1	c.2067C>G	NM_014271.3	NP_055086.1:p.(Thr689=)	NC_000023.10:g.29973913C>G	(Likely) benign	1 lab	30f391fc75
17:48272120 COL1A1 G>T	17	48272120	48272120	G	T	COL1A1	c.1423C>A	NM_000088.3	NP_000079.2:p.(Pro475Thr)	NC_000017.10:g.48272120G>T	VUS	1 lab	30f505726f
2:179439861 TTN T>C	2	179439861	179439861	T	C	TTN	c.70998A>G	NM_001267550.2	NP_001254479.2:p.(Thr23666=)	NC_000002.11:g.179439861T>C	(Likely) benign	1 lab	e97cd1867e
15:90176973 KIF7 T>A	15	90176973	90176973	T	A	KIF7	c.2536A>T	NM_198525.2	NP_940927.2:p.(Thr846Ser)	NC_000015.9:g.90176973T>A	(Likely) benign	1 lab	30f6396e9c
14:23859555 MYH6 A>G	14	23859555	23859555	A	G	MYH6	c.3443T>C	NM_002471.4	NP_002462.2:p.(Ile1148Thr)	NC_000014.8:g.23859555A>G	VUS	1 lab	e97ce82cd7
5:139494346 PURA G>A	5	139494346	139494346	G	A	PURA	c.580G>A	NM_005859.4	NP_005850.1:p.(Gly194Arg)	NC_000005.9:g.139494346G>A	(Likely) pathogenic	1 lab	30f7c70de7
20:3869784 PANK2 T>C	20	3869784	3869784	T	C	PANK2	c.37T>C	NM_153638.2	NP_705902.2:p.(Trp13Arg)	NC_000020.10:g.3869784T>C	VUS	1 lab	30f86a0839
2:1426796 TPO G>C	2	1426796	1426796	G	C	TPO	c.95-21G>C	NM_000547.5	NP_000538.3:p.?	NC_000002.11:g.1426796G>C	(Likely) benign	1 lab	34bfb4dbde
20:50408526 SALL4 G>A	20	50408526	50408526	G	A	SALL4	c.496C>T	NM_020436.3	NP_065169.1:p.(Gln166Ter)	NC_000020.10:g.50408526G>A	(Likely) pathogenic	1 lab	30f99faa0b
X:77528790 CYSLTR1 T>A	X	77528790	77528790	T	A	CYSLTR1	c.454A>T	NM_001282187.1	NP_001269116.1:p.(Ile152Phe)	NC_000023.10:g.77528790T>A	VUS	1 lab	30faf78812
1:228559556 OBSCN G>A	1	228559556	228559556	G	A	OBSCN	c.23948G>A	NM_001271223.2	NP_001258152.2:p.(Ser7983Asn)	NC_000001.10:g.228559556G>A	VUS	1 lab	30fb304bf9
6:30609955 ATAT1 C>G	6	30609955	30609955	C	G	ATAT1	c.655C>G	NM_024909.3	NP_079185.2:p.(Pro219Ala)	NC_000006.11:g.30609955C>G	VUS	1 lab	30fb7545a7
6:80626468 ELOVL4 G>A	6	80626468	80626468	G	A	ELOVL4	c.802C>T	NM_022726.3	NP_073563.1:p.(Arg268Trp)	NC_000006.11:g.80626468G>A	VUS	1 lab	30fd43b982
X:31198544 DMD A>AG	X	31198544	31198545	A	AG	DMD	c.10028dup	NM_004006.3	NP_003997.2:p.(Gly3344TrpfsTer8)	NC_000023.10:g.31198545dup	(Likely) pathogenic	1 lab	e97db5a7fd
15:76643631 SCAPER T>C	15	76643631	76643631	T	C	SCAPER	c.3310-2A>G	NM_001145923.1	NP_001139395.1:p.?	NC_000015.9:g.76643631T>C	VUS	1 lab	30fead62c5
X:23019931 DDX53 T>C	X	23019931	23019931	T	C	DDX53	c.1757T>C	NM_182699.3	NP_874358.2:p.(Leu586Pro)	NC_000023.10:g.23019931T>C	VUS	1 lab	30ff22e09b
X:150909285 CNGA2 G>T	X	150909285	150909285	G	T	CNGA2	c.394G>T	NM_005140.1	NP_005131.1:p.(Val132Phe)	NC_000023.10:g.150909285G>T	VUS	1 lab	30ff75d76f
4:71500146 ENAM A>C	4	71500146	71500146	A	C	ENAM	c.332A>C	NM_031889.3	NP_114095.2:p.(Lys111Thr)	NC_000004.11:g.71500146A>C	VUS	1 lab	31003c5133
22:38164179 TRIOBP C>T	22	38164179	38164179	C	T	TRIOBP	c.6571C>T	NM_001039141.2	NP_001034230.1:p.(His2191Tyr)	NC_000022.10:g.38164179C>T	(Likely) benign	1 lab	3100e6722d
4:41945818 TMEM33 A>G	4	41945818	41945818	A	G	TMEM33	c.383A>G	NM_018126.3	NP_060596.2:p.(Lys128Arg)	NC_000004.11:g.41945818A>G	(Likely) benign	1 lab	3103e29495
1:13109083 MISSING C>T	1	13109083	13109083	C	T	MISSING				NC_000001.10:g.13109083C>T	(Likely) benign	1 lab	34c1daf692
2:135890489 RAB3GAP1 G>A	2	135890489	135890489	G	A	RAB3GAP1	c.1261G>A	NM_001172435.1	NP_001165906.1:p.(Glu421Lys)	NC_000002.11:g.135890489G>A	(Likely) benign	1 lab	31055463da
12:48512285 PFKM C>A	12	48512285	48512285	C	A	PFKM	c.206-4265C>A	NM_001166686.2	NP_001160158.1:p.?	NC_000012.11:g.48512285C>A	(Likely) benign	1 lab	e97eaaa948
12:49446415 KMT2D T>G	12	49446415	49446415	T	G	KMT2D	c.1190A>C	NM_003482.3	NP_003473.3:p.(Lys397Thr)	NC_000012.11:g.49446415T>G	VUS	1 lab	31070570d5
15:41193044 VPS18 G>A	15	41193044	41193044	G	A	VPS18	c.2028G>A	NM_020857.3	NP_065908.1:p.(Pro676=)	NC_000015.9:g.41193044G>A	(Likely) benign	1 lab	310884fd01
4:122254142 QRFPR G>C	4	122254142	122254142	G	C	QRFPR	c.631C>G	NM_198179.2	NP_937822.2:p.(Gln211Glu)	NC_000004.11:g.122254142G>C	(Likely) benign	1 lab	3109380999
2:27672429 IFT172 C>T	2	27672429	27672429	C	T	IFT172	c.4161G>A	NM_015662.2	NP_056477.1:p.(Arg1387=)	NC_000002.11:g.27672429C>T	VUS	1 lab	310b521d13
X:131212487 FRMD7 G>C	X	131212487	131212487	G	C	FRMD7	c.1558C>G	NM_194277.2	NP_919253.1:p.(His520Asp)	NC_000023.10:g.131212487G>C	(Likely) benign	1 lab	310c8b23e9
9:139369751 SEC16A G>A	9	139369751	139369751	G	A	SEC16A	c.2317C>T	NM_014866.1	NP_055681.1:p.(Pro773Ser)	NC_000009.11:g.139369751G>A	(Likely) benign	1 lab	310eaf11b5
9:127244863 NR5A1 ACC>A	9	127244863	127244865	ACC	A	NR5A1	c.*172_*173del	NM_004959.5	NP_004950.2:p.?	NC_000009.11:g.127244864_127244865del	(Likely) benign	1 lab	310f9d3069
20:3214737 SLC4A11 C>T	20	3214737	3214737	C	T	SLC4A11	c.644G>A	NM_001174090.1	NP_001167561.1:p.(Arg215Gln)	NC_000020.10:g.3214737C>T	VUS	1 lab	311053435f
X:153130781 L1CAM C>T	X	153130781	153130781	C	T	L1CAM	c.2722G>A	NM_001278116.1	NP_001265045.1:p.(Glu908Lys)	NC_000023.10:g.153130781C>T	(Likely) benign	1 lab	3111465436
17:29676213 NF1 AAC>A	17	29676213	29676218	AAC	A	NF1	c.7269_7270del	NM_001042492.3	NP_001035957.1:p.(His2423GlnfsTer4)	NC_000017.10:g.29676217_29676218del	(Likely) pathogenic	1 lab	311522a243
4:3136151 HTT C>T	4	3136151	3136151	C	T	HTT	c.2523C>T	NM_002111.8	NP_002102.4:p.(Ser841=)	NC_000004.11:g.3136151C>T	(Likely) benign	1 lab	31153027e6
5:89986637 ADGRV1 G>A	5	89986637	89986637	G	A	ADGRV1	c.6730G>A	NM_032119.4	NP_115495.3:p.(Val2244Ile)	NC_000005.9:g.89986637G>A	VUS	1 lab	3116158a08
15:31319144 TRPM1 T>TC	15	31319144	31319148	T	TC	TRPM1	c.3520dup	NM_001252020.1	NP_001238949.1:p.(Asp1174GlyfsTer14)	NC_000015.9:g.31319148dup	(Likely) pathogenic	1 lab	31163ee55b
X:70444365 GJB1 G>A	X	70444365	70444365	G	A	GJB1	c.808G>A	NM_000166.6	NP_000157.1:p.(Gly270Arg)	NC_000023.10:g.70444365G>A	VUS	1 lab	e980e5988f
11:62290029 AHNAK C>T	11	62290029	62290029	C	T	AHNAK	c.11860G>A	NM_001620.3	NP_001611.1:p.(Val3954Met)	NC_000011.9:g.62290029C>T	VUS	1 lab	e9817adb9f
17:76129619 TMC8 C>T	17	76129619	76129619	C	T	TMC8	c.664C>T	NM_152468.4	NP_689681.2:p.(Arg222Trp)	NC_000017.10:g.76129619C>T	VUS	1 lab	311bf9c39c
14:105419353 AHNAK2 C>G	14	105419353	105419353	C	G	AHNAK2	c.2435G>C	NM_138420.3	NP_612429.2:p.(Gly812Ala)	NC_000014.8:g.105419353C>G	(Likely) benign	1 lab	311dde3dd9
12:110777083 ATP2A2 T>C	12	110777083	110777083	T	C	ATP2A2	c.1420-3T>C	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110777083T>C	(Likely) benign	1 lab	311e4ded9f
19:7600724 PNPLA6 T>C	19	7600724	7600724	T	C	PNPLA6	c.77T>C	NM_001166111.1	NP_001159583.1:p.(Val26Ala)	NC_000019.9:g.7600724T>C	(Likely) benign	1 lab	311ecc29d8
5:112173776 APC AC>A	5	112173776	112173777	AC	A	APC	c.2486del	NM_000038.6	NP_000029.2:p.(Thr829LysfsTer13)	NC_000005.9:g.112173777del	(Likely) pathogenic	1 lab	311ee7f6dc
11:71711435 IL18BP G>A	11	71711435	71711435	G	A	IL18BP	c.67G>A	NM_005699.3	NP_005690.2:p.(Val23Ile)	NC_000011.9:g.71711435G>A	(Likely) benign	1 lab	3121b9b394
16:24124365 PRKCB A>G	16	24124365	24124365	A	G	PRKCB	c.893A>G	NM_002738.6	NP_002729.2:p.(Asn298Ser)	NC_000016.9:g.24124365A>G	VUS	1 lab	312362b912
5:178408840 GRM6 T>A	5	178408840	178408840	T	A	GRM6	c.2452A>T	NM_000843.4	NP_000834.2:p.(Thr818Ser)	NC_000005.9:g.178408840T>A	VUS	1 lab	31237183bb
6:66042305 EYS A>C	6	66042305	66042305	A	C	EYS	c.1772T>G	NM_001142801.1	NP_001136273.1:p.(Ile591Ser)	NC_000006.11:g.66042305A>C	VUS	1 lab	31237680a5
9:117819695 TNC G>C	9	117819695	117819695	G	C	TNC	c.4316C>G	NM_002160.3	NP_002151.2:p.(Pro1439Arg)	NC_000009.11:g.117819695G>C	VUS	1 lab	3123903192
22:37260142 NCF4 G>A	22	37260142	37260142	G	A	NCF4	c.88G>A	NM_013416.3	NP_038202.2:p.(Glu30Lys)	NC_000022.10:g.37260142G>A	VUS	1 lab	3124ef44d4
5:128440709 ISOC1 G>C	5	128440709	128440709	G	C	ISOC1	c.370G>C	NM_016048.2	NP_057132.2:p.(Glu124Gln)	NC_000005.9:g.128440709G>C	VUS	1 lab	3125d7cc9f
12:80605734 OTOGL G>T	12	80605734	80605734	G	T	OTOGL	c.98G>T	NM_173591.3	NP_775862.3:p.(Gly33Val)	NC_000012.11:g.80605734G>T	VUS	1 lab	31282355b3
16:28884516 SH2B1 G>A	16	28884516	28884516	G	A	SH2B1	c.1976G>A	NM_001145797.2	NP_001139269.1:p.(Arg659Gln)	NC_000016.9:g.28884516G>A	VUS	1 lab	e98267e439
11:17577383 OTOG CTCT>C	11	17577383	17577390	CTCT	C	OTOG	c.603_605del	NM_001292063.2	NP_001278992.1:p.(Phe202del)	NC_000011.9:g.17577388_17577390del	VUS	1 lab	312d02df8d
13:86369068 SLITRK6 C>T	13	86369068	86369068	C	T	SLITRK6	c.1576G>A	NM_032229.3	NP_115605.2:p.(Val526Ile)	NC_000013.10:g.86369068C>T	(Likely) benign	1 lab	312ea694cc
7:94057644 COL1A2 A>G	7	94057644	94057644	A	G	COL1A2	c.3566A>G	NM_000089.4	NP_000080.2:p.(Asp1189Gly)	NC_000007.13:g.94057644A>G	VUS	1 lab	e986548120
16:27789901 KATNIP G>A	16	27789901	27789901	G	A	KATNIP	c.4808G>A	NM_015202.3	NP_056017.3:p.(Arg1603His)	NC_000016.9:g.27789901G>A	VUS	1 lab	31304c12a0
19:9069911 MUC16 G>A	19	9069911	9069911	G	A	MUC16	c.17535C>T	NM_024690.2	NP_078966.2:p.(Thr5845=)	NC_000019.9:g.9069911G>A	(Likely) benign	1 lab	313141bbd4
2:85629260 CAPG T>A	2	85629260	85629260	T	A	CAPG	c.9A>T	NM_001256140.1	NP_001243069.1:p.(Thr3=)	NC_000002.11:g.85629260T>A	(Likely) benign	1 lab	313331a98f
10:112404359 RBM20 G>C	10	112404359	112404359	G	C	RBM20	c.147G>C	NM_001134363.1	NP_001127835.1:p.(Gln49His)	NC_000010.10:g.112404359G>C	(Likely) benign	1 lab	313448c9f0
X:31196048 DMD C>T	X	31196048	31196048	C	T	DMD	c.9893+1G>A	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31196048C>T	(Likely) benign	1 lab	3134d18569
2:53956710 ASB3 G>GTT	2	53956710	53956712	G	GTT	ASB3	c.137-4_137-3insAA	NM_001201965.1	NP_001188894.1:p.?	NC_000002.11:g.53956711_53956712insTT	VUS	1 lab	31357349da
12:51457549 CSRNP2 C>G	12	51457549	51457549	C	G	CSRNP2	c.1612G>C	NM_030809.2	NP_110436.1:p.(Glu538Gln)	NC_000012.11:g.51457549C>G	(Likely) benign	1 lab	3137347e5b
13:39541048 STOML3 T>C	13	39541048	39541048	T	C	STOML3	c.763A>G	NM_001144033.1	NP_001137505.1:p.(Ile255Val)	NC_000013.10:g.39541048T>C	VUS	1 lab	313841db18
9:113173709 SVEP1 C>T	9	113173709	113173709	C	T	SVEP1	c.6282G>A	NM_153366.4	NP_699197.3:p.(Leu2094=)	NC_000009.11:g.113173709C>T	(Likely) benign	1 lab	3138f494e4
22:32889206 FBXO7 A>G	22	32889206	32889206	A	G	FBXO7	c.1082A>G	NM_012179.3	NP_036311.3:p.(Asp361Gly)	NC_000022.10:g.32889206A>G	VUS	1 lab	313957cd05
6:88279267 RARS2 T>G	6	88279267	88279267	T	G	RARS2	c.78A>C	NM_020320.4	NP_064716.2:p.(Thr26=)	NC_000006.11:g.88279267T>G	(Likely) benign	1 lab	313cb78490
4:6302848 WFS1 C>T	4	6302848	6302848	C	T	WFS1	c.1326C>T	NM_006005.3	NP_005996.2:p.(Thr442=)	NC_000004.11:g.6302848C>T	(Likely) benign	1 lab	31430511ab
7:84671541 SEMA3D G>A	7	84671541	84671541	G	A	SEMA3D	c.922C>T	NM_152754.2	NP_689967.2:p.(Leu308=)	NC_000007.13:g.84671541G>A	(Likely) benign	1 lab	3145a9510f
8:61765956 CHD7 C>T	8	61765956	61765956	C	T	CHD7				NC_000008.10:g.61765956C>T	(Likely) benign	1 lab	3147398505
1:215953266 USH2A T>C	1	215953266	215953266	T	C	USH2A	c.10858A>G	NM_206933.2	NP_996816.2:p.(Ile3620Val)	NC_000001.10:g.215953266T>C	VUS	1 lab	3147eaff17
4:122774161 BBS7 C>T	4	122774161	122774161	C	T	BBS7	c.799G>A	NM_176824.2	NP_789794.1:p.(Glu267Lys)	NC_000004.11:g.122774161C>T	VUS	1 lab	314835c94c
2:220432831 OBSL1 A>G	2	220432831	220432831	A	G	OBSL1	c.1228T>C	NM_015311.2	NP_056126.1:p.(Tyr410His)	NC_000002.11:g.220432831A>G	VUS	1 lab	314b622dd6
X:17750088 NHS C>T	X	17750088	17750088	C	T	NHS	c.4460C>T	NM_001291867.1	NP_001278796.1:p.(Pro1487Leu)	NC_000023.10:g.17750088C>T	VUS	1 lab	314dbdba2b
6:118880266 PLN C>A	6	118880266	118880266	C	A	PLN	c.*23C>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880266C>A	(Likely) benign	1 lab	314e40d9a0
19:1065305 ABCA7 G>A	19	1065305	1065305	G	A	ABCA7	c.6322G>A	NM_019112.3	NP_061985.2:p.(Glu2108Lys)	NC_000019.9:g.1065305G>A	(Likely) benign	1 lab	314e72e736
1:103461564 COL11A1 G>A	1	103461564	103461564	G	A	COL11A1	c.2312C>T	NM_080629.2	NP_542196.2:p.(Pro771Leu)	NC_000001.10:g.103461564G>A	VUS	1 lab	315039482e
16:31201687 FUS G>T	16	31201687	31201687	G	T	FUS	c.1260G>T	NM_004960.3	NP_004951.1:p.(Gln420His)	NC_000016.9:g.31201687G>T	VUS	1 lab	3150db8de6
2:179596074 TTN C>A	2	179596074	179596074	C	A	TTN	c.17419G>T	NM_001267550.1	NP_001254479.1:p.(Asp5807Tyr)	NC_000002.11:g.179596074C>A	VUS	1 lab	3151f7b01c
X:47433907 SYN1 GTGC>G	X	47433907	47433915	GTGC	G	SYN1	c.1473_1475del	NM_006950.3	NP_008881.2:p.(Gln491del)	NC_000023.10:g.47433913_47433915del	VUS	1 lab	315500da2a
X:18528968 CDKL5 A>G	X	18528968	18528968	A	G	CDKL5	c.93A>G	NM_001323289.1	NP_001310218.1:p.(Arg31=)	NC_000023.10:g.18528968A>G	(Likely) benign	1 lab	315503c377
19:50713795 MYH14 T>TAA	19	50713795	50713796	T	TAA	MYH14	c.173_174insAA	NM_001145809.1	NP_001139281.1:p.(Pro59SerfsTer42)	NC_000019.9:g.50713795_50713796insAA	VUS	1 lab	3155204788
22:38155433 TRIOBP G>A	22	38155433	38155433	G	A	TRIOBP	c.1195G>A	NM_138632.2	NP_619538.2:p.(Val399Met)	NC_000022.10:g.38155433G>A	(Likely) benign	1 lab	31559b5a31
17:41245209 BRCA1 T>C	17	41245209	41245209	T	C	BRCA1	c.2339A>G	NM_007294.4	NP_009225.1:p.(Gln780Arg)	NC_000017.10:g.41245209T>C	VUS	1 lab	e989ce7eaa
19:33353464 SLC7A9 G>A	19	33353464	33353464	G	A	SLC7A9	c.507C>T	NM_001243036.2	NP_001229965.1:p.(Ser169=)	NC_000019.9:g.33353464G>A	(Likely) benign	1 lab	e98c59fa57
17:41055944 G6PC1 A>G	17	41055944	41055944	A	G	G6PC1	c.231-4A>G	NM_001270397.1	NP_001257326.1:p.?	NC_000017.10:g.41055944A>G	(Likely) benign	1 lab	315ab86978
12:53343265 KRT18 C>A	12	53343265	53343265	C	A	KRT18	c.308C>A	NM_000224.3	NP_000215.1:p.(Thr103Asn)	NC_000012.11:g.53343265C>A	(Likely) benign	1 lab	e98cc1187b
X:3592797 PRKX C>T	X	3592797	3592797	C	T	PRKX	c.177G>A	NM_005044.4	NP_005035.1:p.(Thr59=)	NC_000023.10:g.3592797C>T	(Likely) benign	1 lab	315cb499e8
19:18266745 PIK3R2 G>A	19	18266745	18266745	G	A	PIK3R2	c.56G>A	NM_005027.3	NP_005018.1:p.(Arg19Gln)	NC_000019.9:g.18266745G>A	(Likely) benign	1 lab	315cbd879b
X:109697388 RTL9 C>T	X	109697388	109697388	C	T	RTL9	c.3543C>T	NM_020769.2	NP_065820.1:p.(Asp1181=)	NC_000023.10:g.109697388C>T	(Likely) benign	1 lab	315cffed9d
1:103478004 COL11A1 CA>C	1	103478004	103478005	CA	C	COL11A1	c.1593del	NM_001854.4	NP_001845.3:p.(Gly532AlafsTer5)	NC_000001.10:g.103478005del	(Likely) pathogenic	1 lab	e98d5e0db6
12:9075264 PHC1 C>G	12	9075264	9075264	C	G	PHC1	c.492C>G	NM_004426.2	NP_004417.2:p.(Thr164=)	NC_000012.11:g.9075264C>G	(Likely) benign	1 lab	315d695fbf
X:38260563 OTC G>A	X	38260563	38260563	G	A	OTC	c.422G>A	NM_000531.5	NP_000522.3:p.(Arg141Gln)	NC_000023.10:g.38260563G>A	(Likely) pathogenic	1 lab	315f314b11
2:152404820 NEB A>G	2	152404820	152404820	A	G	NEB	c.20157+2T>C	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152404820A>G	(Likely) pathogenic	1 lab	315f323fdc
12:42858235 PRICKLE1 C>T	12	42858235	42858235	C	T	PRICKLE1	c.1601G>A	NM_153026.2	NP_694571.2:p.(Arg534Gln)	NC_000012.11:g.42858235C>T	VUS	1 lab	315fbab230
6:34498360 PACSIN1 G>A	6	34498360	34498360	G	A	PACSIN1	c.1033G>A	NM_001199583.2	NP_001186512.1:p.(Gly345Ser)	NC_000006.11:g.34498360G>A	VUS	1 lab	31617092f1
19:36002370 DMKN A>ACCACTGCTGCCG	19	36002370	36002404	A	ACCACTGCTGCCG	DMKN	c.849_860dup	NM_033317.5	NP_201574.4:p.(Gly288_Gly291dup)	NC_000019.9:g.36002393_36002404dup	VUS	1 lab	31618a028a
17:76121860 TMC6 G>A	17	76121860	76121860	G	A	TMC6	c.377C>T	NM_007267.7	NP_009198.4:p.(Pro126Leu)	NC_000017.10:g.76121860G>A	VUS	1 lab	e98f74d13a
17:29588850 NF1 T>TC	17	29588850	29588851	T	TC	NF1	c.4637dup	NM_000267.3	NP_000258.1:p.(Phe1548ValfsTer2)	NC_000017.10:g.29588851dup	(Likely) pathogenic	1 lab	316373e243
17:29557340 NF1 T>G	17	29557340	29557340	T	G	NF1	c.3053T>G	NM_000267.3	NP_000258.1:p.(Leu1018Ter)	NC_000017.10:g.29557340T>G	(Likely) pathogenic	1 lab	3164207d79
6:143081004 HIVEP2 T>C	6	143081004	143081004	T	C	HIVEP2	c.6421A>G	NM_006734.3	NP_006725.3:p.(Ile2141Val)	NC_000006.11:g.143081004T>C	VUS	1 lab	3165c56d18
15:34042244 RYR3 T>C	15	34042244	34042244	T	C	RYR3	c.8264T>C	NM_001036.4	NP_001027.3:p.(Leu2755Pro)	NC_000015.9:g.34042244T>C	VUS	1 lab	31664389c6
4:88977418 PKD2 A>T	4	88977418	88977418	A	T	PKD2	c.1897A>T	NM_000297.4	NP_000288.1:p.(Ile633Phe)	NC_000004.11:g.88977418A>T	VUS	1 lab	e990131725
19:42473626 ATP1A3 G>A	19	42473626	42473626	G	A	ATP1A3	c.2649C>T	NM_152296.5	NP_689509.1:p.(Arg883=)	NC_000019.9:g.42473626G>A	(Likely) benign	1 lab	31671c6294
16:88502672 ZNF469 G>A	16	88502672	88502672	G	A	ZNF469				NC_000016.9:g.88502672G>A	(Likely) benign	1 lab	3167a502d1
2:135920108 RAB3GAP1 C>T	2	135920108	135920108	C	T	RAB3GAP1	c.2290-17C>T	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135920108C>T	(Likely) benign	1 lab	31680fc057
7:82582834 PCLO A>G	7	82582834	82582834	A	G	PCLO	c.7435T>C	NM_033026.5	NP_149015.2:p.(Cys2479Arg)	NC_000007.13:g.82582834A>G	(Likely) benign	1 lab	3168be4045
19:35524454 SCN1B G>A	19	35524454	35524454	G	A	SCN1B	c.259G>A	NM_199037.5	NP_950238.1:p.(Glu87Lys)	NC_000019.9:g.35524454G>A	VUS	1 lab	e992e78353
12:52200889 SCN8A C>T	12	52200889	52200889	C	T	SCN8A	c.5619C>T	NM_001330260.1	NP_001317189.1:p.(Phe1873=)	NC_000012.11:g.52200889C>T	(Likely) benign	1 lab	316bbe5802
19:8651480 ADAMTS10 C>T	19	8651480	8651480	C	T	ADAMTS10	c.2365G>A	NM_030957.4	NP_112219.3:p.(Glu789Lys)	NC_000019.9:g.8651480C>T	VUS	1 lab	e995533bc9
8:1905263 ARHGEF10 C>T	8	1905263	1905263	C	T	ARHGEF10	c.3869C>T	NM_014629.2	NP_055444.2:p.(Ser1290Leu)	NC_000008.10:g.1905263C>T	(Likely) benign	1 lab	316e2f41f0
1:185891625 HMCN1 G>A	1	185891625	185891625	G	A	HMCN1	c.1015G>A	NM_031935.2	NP_114141.2:p.(Val339Met)	NC_000001.10:g.185891625G>A	VUS	1 lab	3171832fd7
16:75579723 TMEM231 C>T	16	75579723	75579723	C	T	TMEM231	c.597+1G>A	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75579723C>T	VUS	1 lab	3172ae5946
7:92764210 SAMD9L G>A	7	92764210	92764210	G	A	SAMD9L	c.1075C>T	NM_152703.4	NP_689916.2:p.(Arg359Trp)	NC_000007.13:g.92764210G>A	VUS	1 lab	317333466f
X:152858087 CCNQ G>A	X	152858087	152858087	G	A	CCNQ	c.534C>T	NM_152274.4	NP_689487.2:p.(Tyr178=)	NC_000023.10:g.152858087G>A	(Likely) benign	1 lab	31736515a5
11:64375202 NRXN2 C>A	11	64375202	64375202	C	A	NRXN2	c.4605G>T	NM_015080.3	NP_055895.1:p.(Arg1535=)	NC_000011.9:g.64375202C>A	(Likely) benign	1 lab	3174390516
16:69726759 NFAT5 A>G	16	69726759	69726759	A	G	NFAT5	c.2749A>G	NM_138714.3	NP_619728.2:p.(Thr917Ala)	NC_000016.9:g.69726759A>G	(Likely) benign	1 lab	31762d362b
13:60558018 DIAPH3 T>C	13	60558018	60558018	T	C	DIAPH3	c.1365A>G	NM_001042517.1	NP_001035982.1:p.(Gln455=)	NC_000013.10:g.60558018T>C	(Likely) benign	1 lab	31765c56fe
6:88210264 SLC35A1 G>C	6	88210264	88210264	G	C	SLC35A1	c.233G>C	NM_006416.4	NP_006407.1:p.(Arg78Thr)	NC_000006.11:g.88210264G>C	(Likely) benign	1 lab	31775ecbc2
8:32621631 NRG1 G>A	8	32621631	32621631	G	A	NRG1	c.1649G>A	NM_013956.4	NP_039250.2:p.(Arg550Gln)	NC_000008.10:g.32621631G>A	(Likely) benign	1 lab	3177ce9382
4:84393423 ABRAXAS1 G>A	4	84393423	84393423	G	A	ABRAXAS1	c.234C>T	NM_139076.2	NP_620775.2:p.(Gly78=)	NC_000004.11:g.84393423G>A	(Likely) benign	1 lab	31788954c0
7:70255257 AUTS2 C>G	7	70255257	70255257	C	G	AUTS2	c.3055C>G	NM_015570.4	NP_056385.1:p.(Leu1019Val)	NC_000007.13:g.70255257C>G	VUS	1 lab	e996a834a3
10:90695085 ACTA2 G>A	10	90695085	90695085	G	A	ACTA2	c.1029C>T	NM_001141945.1	NP_001135417.1:p.(Ile343=)	NC_000010.10:g.90695085G>A	(Likely) benign	1 lab	317a69c2a5
7:151864417 KMT2C T>C	7	151864417	151864417	T	C	KMT2C	c.9564A>G	NM_170606.2	NP_733751.2:p.(Gln3188=)	NC_000007.13:g.151864417T>C	(Likely) benign	1 lab	317a94f4c7
16:84214785 TAF1C G>A	16	84214785	84214785	G	A	TAF1C	c.1250C>T	NM_005679.3	NP_005670.3:p.(Pro417Leu)	NC_000016.9:g.84214785G>A	VUS	1 lab	317e8a41ca
11:65294301 SCYL1 A>G	11	65294301	65294301	A	G	SCYL1	c.650A>G	NM_020680.3	NP_065731.3:p.(Asn217Ser)	NC_000011.9:g.65294301A>G	VUS	1 lab	317f441de6
2:21232751 APOB A>G	2	21232751	21232751	A	G	APOB	c.6989T>C	NM_000384.2	NP_000375.2:p.(Val2330Ala)	NC_000002.11:g.21232751A>G	VUS	1 lab	31804a78bb
10:100185695 HPS1 A>AGGGCCCAG	10	100185695	100185698	A	AGGGCCCAG	HPS1	c.62_63insCTGGGCCC	NM_001322487.1	NP_001309416.1:p.(Ser22TrpfsTer15)	NC_000010.10:g.100185697_100185698insGCCCAGGG	(Likely) pathogenic	1 lab	318057afa5
4:8869444 HMX1 C>G	4	8869444	8869444	C	G	HMX1	c.1022G>C	NM_018942.2	NP_061815.2:p.(Arg341Pro)	NC_000004.11:g.8869444C>G	(Likely) benign	1 lab	3182c99673
19:7533981 ARHGEF18 G>A	19	7533981	7533981	G	A	ARHGEF18	c.3751G>A	NM_001367823.1	NP_001354752.1:p.(Gly1251Ser)	NC_000019.9:g.7533981G>A	(Likely) benign	1 lab	3183999bf8
X:99920331 SRPX2 G>A	X	99920331	99920331	G	A	SRPX2	c.624G>A	NM_014467.2	NP_055282.1:p.(Pro208=)	NC_000023.10:g.99920331G>A	(Likely) benign	1 lab	3183c02a02
9:139396915 NOTCH1 C>T	9	139396915	139396915	C	T	NOTCH1	c.5193G>A	NM_017617.5	NP_060087.3:p.(Pro1731=)	NC_000009.11:g.139396915C>T	(Likely) benign	1 lab	318820d12d
19:38684392 SIPA1L3 C>T	19	38684392	38684392	C	T	SIPA1L3	c.4812C>T	NM_015073.2	NP_055888.1:p.(Ala1604=)	NC_000019.9:g.38684392C>T	(Likely) benign	1 lab	3188520bf2
5:176710862 NSD1 AAC>A	5	176710862	176710867	AAC	A	NSD1	c.6088_6089del	NM_022455.5	NP_071900.2:p.(Gln2030GlufsTer17)	NC_000005.9:g.176710866_176710867del	(Likely) pathogenic	1 lab	3188b81bb9
2:238243281 COL6A3 T>C	2	238243281	238243281	T	C	COL6A3	c.9217A>G	NM_004369.3	NP_004360.2:p.(Ser3073Gly)	NC_000002.11:g.238243281T>C	(Likely) benign	1 lab	318d32ce78
10:111640679 XPNPEP1 C>G	10	111640679	111640679	C	G	XPNPEP1	c.1037G>C	NM_001324136.1	NP_001311065.1:p.(Cys346Ser)	NC_000010.10:g.111640679C>G	VUS	1 lab	3190c586dc
6:42934145 PEX6 T>C	6	42934145	42934145	T	C	PEX6	c.2135A>G	NM_000287.4	NP_000278.3:p.(Glu712Gly)	NC_000006.11:g.42934145T>C	VUS	1 lab	e998861706
14:104038028 COA8 C>T	14	104038028	104038028	C	T	COA8	c.231C>T	NM_032374.4	NP_115750.2:p.(Asn77=)	NC_000014.8:g.104038028C>T	(Likely) benign	1 lab	319140221b
21:46945859 SLC19A1 A>T	21	46945859	46945859	A	T	SLC19A1	c.811T>A	NM_001352510.1	NP_001339439.1:p.(Ser271Thr)	NC_000021.8:g.46945859A>T	VUS	1 lab	3195c87523
11:78369227 TENM4 A>T	11	78369227	78369227	A	T	TENM4	c.8186T>A	NM_001098816.2	NP_001092286.2:p.(Leu2729Gln)	NC_000011.9:g.78369227A>T	VUS	1 lab	31965cade2
11:6662056 DCHS1 C>G	11	6662056	6662056	C	G	DCHS1				NC_000011.9:g.6662056C>G	(Likely) benign	1 lab	319726ac0d
13:32906740 BRCA2 C>A	13	32906740	32906740	C	A	BRCA2	c.1125C>A	NM_000059.3	NP_000050.2:p.(Pro375=)	NC_000013.10:g.32906740C>A	(Likely) benign	1 lab	3197927451
1:1412649 ATAD3B C>T	1	1412649	1412649	C	T	ATAD3B	c.206-5C>T	NM_031921.5	NP_114127.3:p.?	NC_000001.10:g.1412649C>T	VUS	1 lab	3198442828
14:105418121 AHNAK2 G>A	14	105418121	105418121	G	A	AHNAK2	c.3667C>T	NM_138420.3	NP_612429.2:p.(His1223Tyr)	NC_000014.8:g.105418121G>A	(Likely) benign	1 lab	31997dd6c7
16:67662340 CTCF A>G	16	67662340	67662340	A	G	CTCF	c.1586A>G	NM_006565.4	NP_006556.1:p.(Asp529Gly)	NC_000016.9:g.67662340A>G	VUS	1 lab	e99cc238cf
4:128878695 MFSD8 T>A	4	128878695	128878695	T	A	MFSD8	c.115A>T	NM_152778.2	NP_689991.1:p.(Ile39Phe)	NC_000004.11:g.128878695T>A	VUS	1 lab	3199f79760
6:35423662 FANCE A>C	6	35423662	35423662	A	C	FANCE	c.387A>C	NM_021922.3	NP_068741.1:p.(Pro129=)	NC_000006.11:g.35423662A>C	(Likely) benign	1 lab	e99dff60b8
16:30764715 PHKG2 G>A	16	30764715	30764715	G	A	PHKG2	c.393G>A	NM_000294.2	NP_000285.1:p.(Arg131=)	NC_000016.9:g.30764715G>A	(Likely) benign	1 lab	319a46f6a4
1:22182165 HSPG2 C>T	1	22182165	22182165	C	T	HSPG2	c.5708G>A	NM_001291860.1	NP_001278789.1:p.(Gly1903Asp)	NC_000001.10:g.22182165C>T	VUS	1 lab	319e210e15
2:197297941 HECW2 C>T	2	197297941	197297941	C	T	HECW2	c.207G>A	NM_020760.3	NP_065811.1:p.(Thr69=)	NC_000002.11:g.197297941C>T	(Likely) benign	1 lab	319ec526e1
8:31024666 WRN A>T	8	31024666	31024666	A	T	WRN	c.4111A>T	NM_000553.4	NP_000544.2:p.(Lys1371Ter)	NC_000008.10:g.31024666A>T	(Likely) pathogenic	1 lab	319ed7948c
18:43514854 EPG5 G>T	18	43514854	43514854	G	T	EPG5	c.2178C>A	NM_020964.3	NP_066015.2:p.(Leu726=)	NC_000018.9:g.43514854G>T	(Likely) benign	1 lab	319f923006
6:56426156 DST G>C	6	56426156	56426156	G	C	DST	c.7903C>G	NM_001144769.2	NP_001138241.1:p.(Pro2635Ala)	NC_000006.11:g.56426156G>C	(Likely) benign	1 lab	319fc7562f
11:64118953 CCDC88B G>A	11	64118953	64118953	G	A	CCDC88B	c.2964G>A	NM_032251.6	NP_115627.6:p.(Ala988=)	NC_000011.9:g.64118953G>A	(Likely) benign	1 lab	31a09afb1c
21:46888706 COL18A1 C>G	21	46888706	46888706	C	G	COL18A1	c.1191+6C>G	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46888706C>G	(Likely) benign	1 lab	31a09b0b74
11:77921459 USP35 A>G	11	77921459	77921459	A	G	USP35	c.2558A>G	NM_020798.4	NP_065849.1:p.(His853Arg)	NC_000011.9:g.77921459A>G	VUS	1 lab	31a19ea9f1
9:139391710 NOTCH1 G>A	9	139391710	139391710	G	A	NOTCH1	c.6481C>T	NM_017617.5	NP_060087.3:p.(Pro2161Ser)	NC_000009.11:g.139391710G>A	VUS	1 lab	31a222fb24
X:53574730 HUWE1 C>G	X	53574730	53574730	C	G	HUWE1	c.10540G>C	NM_031407.6	NP_113584.3:p.(Ala3514Pro)	NC_000023.10:g.53574730C>G	(Likely) benign	1 lab	31a24a7433
10:95849122 PLCE1 A>T	10	95849122	95849122	A	T	PLCE1	c.271A>T	NM_001165979.2	NP_001159451.1:p.(Lys91Ter)	NC_000010.10:g.95849122A>T	VUS	1 lab	31a2652134
5:142513686 ARHGAP26 A>G	5	142513686	142513686	A	G	ARHGAP26	c.1837+16A>G	NM_015071.6	NP_055886.1:p.?	NC_000005.9:g.142513686A>G	(Likely) benign	1 lab	e9a15024b6
21:46321546 ITGB2 G>A	21	46321546	46321546	G	A	ITGB2	c.602C>T	NM_000211.3	NP_000202.2:p.(Pro201Leu)	NC_000021.8:g.46321546G>A	VUS	1 lab	31a46f52f0
4:146575267 MMAA G>A	4	146575267	146575267	G	A	MMAA	c.941G>A	NM_172250.3	NP_758454.1:p.(Arg314His)	NC_000004.11:g.146575267G>A	VUS	1 lab	31a54abdeb
5:41196013 C6 T>C	5	41196013	41196013	T	C	C6	c.468A>G	NM_001115131.2	NP_001108603.2:p.(Leu156=)	NC_000005.9:g.41196013T>C	(Likely) benign	1 lab	31a6b92596
9:139438522 NOTCH1 G>A	9	139438522	139438522	G	A	NOTCH1	c.94C>T	NM_017617.5	NP_060087.3:p.(Leu32=)	NC_000009.11:g.139438522G>A	(Likely) benign	1 lab	31a9739e89
22:24939922 GUCD1 A>G	22	24939922	24939922	A	G	GUCD1	c.516T>C	NM_031444.3	NP_113632.2:p.(Ser172=)	NC_000022.10:g.24939922A>G	(Likely) benign	1 lab	31a9967348
5:32088663 PDZD2 C>T	5	32088663	32088663	C	T	PDZD2	c.5109C>T	NM_178140.3	NP_835260.2:p.(Ser1703=)	NC_000005.9:g.32088663C>T	(Likely) benign	1 lab	31ac4609b8
18:29122621 DSG2 A>G	18	29122621	29122621	A	G	DSG2	c.2140A>G	NM_001943.3	NP_001934.2:p.(Met714Val)	NC_000018.9:g.29122621A>G	VUS	1 lab	31aca6cb38
10:101911919 ERLIN1 T>C	10	101911919	101911919	T	C	ERLIN1	c.1016A>G	NM_006459.3	NP_006450.2:p.(Asn339Ser)	NC_000010.10:g.101911919T>C	(Likely) benign	1 lab	31af855dbc
21:45714305 AIRE C>T	21	45714305	45714305	C	T	AIRE				NC_000021.8:g.45714305C>T	(Likely) benign	1 lab	31af9597e4
13:35735913 NBEA A>G	13	35735913	35735913	A	G	NBEA	c.3888A>G	NM_015678.4	NP_056493.3:p.(Gln1296=)	NC_000013.10:g.35735913A>G	(Likely) benign	1 lab	31b390a003
13:43148565 TNFSF11 T>C	13	43148565	43148565	T	C	TNFSF11	c.126T>C	NM_003701.4	NP_003692.1:p.(Pro42=)	NC_000013.10:g.43148565T>C	(Likely) benign	1 lab	e9a1e34f51
22:21351066 LZTR1 C>T	22	21351066	21351066	C	T	LZTR1	c.2301C>T	NM_006767.4	NP_006758.2:p.(Asn767=)	NC_000022.10:g.21351066C>T	(Likely) benign	1 lab	e9a2847f92
10:73574837 CDH23 G>A	10	73574837	73574837	G	A	CDH23	c.9867G>A	NM_022124.5	NP_071407.4:p.(Thr3289=)	NC_000010.10:g.73574837G>A	(Likely) benign	1 lab	31b640d895
2:85604575 ELMOD3 G>A	2	85604575	85604575	G	A	ELMOD3	c.716G>A	NM_001329791.1	NP_001316720.1:p.(Arg239His)	NC_000002.11:g.85604575G>A	VUS	1 lab	31b7c3ae11
1:65858137 DNAJC6 T>A	1	65858137	65858137	T	A	DNAJC6	c.1492T>A	NM_001256864.2	NP_001243793.1:p.(Cys498Ser)	NC_000001.10:g.65858137T>A	(Likely) benign	1 lab	31b99f8050
5:131923282 RAD50 T>G	5	131923282	131923282	T	G	RAD50	c.785T>G	NM_005732.3	NP_005723.2:p.(Leu262Arg)	NC_000005.9:g.131923282T>G	VUS	1 lab	31bb1d5aef
12:88487578 CEP290 C>T	12	88487578	88487578	C	T	CEP290	c.3278G>A	NM_025114.3	NP_079390.3:p.(Arg1093His)	NC_000012.11:g.88487578C>T	VUS	1 lab	31bc30943c
21:47805894 PCNT G>A	21	47805894	47805894	G	A	PCNT	c.3460G>A	NM_006031.5	NP_006022.3:p.(Glu1154Lys)	NC_000021.8:g.47805894G>A	VUS	1 lab	31bec93cd7
7:5680851 RNF216 T>C	7	5680851	5680851	T	C	RNF216	c.2316A>G	NM_207111.3	NP_996994.1:p.(Gln772=)	NC_000007.13:g.5680851T>C	(Likely) benign	1 lab	31c03ec5c2
3:186358434 FETUB TGA>T	3	186358434	186358438	TGA	T	FETUB	c.188_189del	NM_014375.3	NP_055190.2:p.(Arg63ThrfsTer29)	NC_000003.11:g.186358437_186358438del	VUS	1 lab	31c1e18982
X:70461071 ZMYM3 A>G	X	70461071	70461071	A	G	ZMYM3	c.3920+6T>C	NM_201599.3	NP_963893.1:p.?	NC_000023.10:g.70461071A>G	(Likely) benign	1 lab	e9a331b8fd
2:26687877 OTOF C>T	2	26687877	26687877	C	T	OTOF	c.4820G>A	NM_194248.2	NP_919224.1:p.(Arg1607Gln)	NC_000002.11:g.26687877C>T	VUS	1 lab	31c1fad317
3:15686425 BTD G>A	3	15686425	15686425	G	A	BTD	c.1062G>A	NM_000060.4	NP_000051.1:p.(Thr354=)	NC_000003.11:g.15686425G>A	(Likely) benign	1 lab	31c3e0c431
17:29533256 NF1 A>T	17	29533256	29533256	A	T	NF1	c.1261-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533256A>T	(Likely) pathogenic	1 lab	31c444ab9e
17:78082521 GAA AC>A	17	78082521	78082522	AC	A	GAA	c.1221del	NM_000152.5	NP_000143.2:p.(Tyr407Ter)	NC_000017.10:g.78082522del	(Likely) pathogenic	1 lab	31c449e11d
10:102748429 TWNK C>T	10	102748429	102748429	C	T	TWNK	c.462C>T	NM_001163812.1	NP_001157284.1:p.(Val154=)	NC_000010.10:g.102748429C>T	(Likely) benign	1 lab	31c6478194
4:79462139 FRAS1 A>G	4	79462139	79462139	A	G	FRAS1	c.11900A>G	NM_025074.7	NP_079350.5:p.(Asn3967Ser)	NC_000004.11:g.79462139A>G	VUS	1 lab	31c729db71
10:73082585 SLC29A3 G>A	10	73082585	73082585	G	A	SLC29A3	c.74G>A	NM_001174098.1	NP_001167569.1:p.(Arg25Gln)	NC_000010.10:g.73082585G>A	(Likely) benign	1 lab	31c866c889
7:117267653 CFTR C>G	7	117267653	117267653	C	G	CFTR	c.3546C>G	NM_000492.3	NP_000483.3:p.(Tyr1182Ter)	NC_000007.13:g.117267653C>G	(Likely) pathogenic	1 lab	31ca204261
2:179393076 TTN C>T	2	179393076	179393076	C	T	TTN	c.107302G>A	NM_001267550.1	NP_001254479.1:p.(Asp35768Asn)	NC_000002.11:g.179393076C>T	VUS	1 lab	31cbe75c2c
2:9630576 ADAM17 A>C	2	9630576	9630576	A	C	ADAM17	c.2205T>G	NM_003183.6	NP_003174.3:p.(Thr735=)	NC_000002.11:g.9630576A>C	(Likely) benign	1 lab	31cbf01b47
21:38137322 HLCS G>A	21	38137322	38137322	G	A	HLCS	c.1671C>T	NM_001242784.2	NP_001229713.1:p.(Pro557=)	NC_000021.8:g.38137322G>A	(Likely) benign	1 lab	31cc16fa8d
9:117165093 WHRN T>C	9	117165093	117165093	T	C	WHRN	c.2665A>G	NM_015404.3	NP_056219.3:p.(Lys889Glu)	NC_000009.11:g.117165093T>C	VUS	1 lab	31cd355528
9:126129551 CRB2 C>T	9	126129551	126129551	C	T	CRB2	c.855C>T	NM_173689.6	NP_775960.4:p.(Tyr285=)	NC_000009.11:g.126129551C>T	(Likely) benign	1 lab	31cde3f38b
18:67718688 RTTN A>G	18	67718688	67718688	A	G	RTTN	c.5282T>C	NM_173630.4	NP_775901.3:p.(Phe1761Ser)	NC_000018.9:g.67718688A>G	(Likely) benign	1 lab	e9a59247df
X:2861169 ARSL C>G	X	2861169	2861169	C	G	ARSL	c.1138G>C	NM_001282628.1	NP_001269557.1:p.(Gly380Arg)	NC_000023.10:g.2861169C>G	VUS	1 lab	31cfb28173
18:53070883 TCF4 G>A	18	53070883	53070883	G	A	TCF4	c.63C>T	NM_001243232.1	NP_001230161.1:p.(Cys21=)	NC_000018.9:g.53070883G>A	(Likely) benign	1 lab	31cfe1fdec
12:49578925 TUBA1A G>A	12	49578925	49578925	G	A	TUBA1A	c.1224C>T	NM_001270399.1	NP_001257328.1:p.(Tyr408=)	NC_000012.11:g.49578925G>A	(Likely) benign	1 lab	31d0f51e86
9:119460403 TRIM32 C>T	9	119460403	119460403	C	T	TRIM32	c.382C>T	NM_001099679.1	NP_001093149.1:p.(His128Tyr)	NC_000009.11:g.119460403C>T	VUS	1 lab	31d2ecc562
18:28654775 DSC2 T>A	18	28654775	28654775	T	A	DSC2	c.1762A>T	NM_024422.4	NP_077740.1:p.(Thr588Ser)	NC_000018.9:g.28654775T>A	(Likely) benign	1 lab	31d360eba3
4:515488 PIGG C>T	4	515488	515488	C	T	PIGG	c.1372C>T	NM_001127178.2	NP_001120650.1:p.(Arg458Cys)	NC_000004.11:g.515488C>T	(Likely) benign	1 lab	31d4d89a3e
4:1807140 FGFR3 G>T	4	1807140	1807140	G	T	FGFR3	c.1471G>T	NM_000142.4	NP_000133.1:p.(Ala491Ser)	NC_000004.11:g.1807140G>T	VUS	1 lab	31d5fc02a5
2:27324725 CGREF1 G>A	2	27324725	27324725	G	A	CGREF1	c.374C>T	NM_006569.6	NP_006560.3:p.(Thr125Ile)	NC_000002.11:g.27324725G>A	VUS	1 lab	31d6df1007
X:130215765 ARHGAP36 C>A	X	130215765	130215765	C	A	ARHGAP36	c.126C>A	NM_144967.4	NP_659404.2:p.(Asn42Lys)	NC_000023.10:g.130215765C>A	(Likely) benign	1 lab	31d9a070d2
11:6645468 DCHS1 G>A	11	6645468	6645468	G	A	DCHS1				NC_000011.9:g.6645468G>A	VUS	1 lab	31dac527cf
1:197072678 ASPM G>A	1	197072678	197072678	G	A	ASPM	c.5703C>T	NM_018136.4	NP_060606.3:p.(Ala1901=)	NC_000001.10:g.197072678G>A	(Likely) benign	1 lab	31dba71d14
X:151999671 NSDHL G>A	X	151999671	151999671	G	A	NSDHL	c.-44+10G>A	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.151999671G>A	(Likely) benign	1 lab	31dc06ea23
5:13708396 DNAH5 A>G	5	13708396	13708396	A	G	DNAH5	c.13174T>C	NM_001369.2	NP_001360.1:p.(Phe4392Leu)	NC_000005.9:g.13708396A>G	VUS	1 lab	31dcd495ba
16:89350041 ANKRD11 TC>T	16	89350041	89350043	TC	T	ANKRD11	c.2908del	NM_013275.6	NP_037407.4:p.(Glu970ArgfsTer7)	NC_000016.9:g.89350043del	(Likely) pathogenic	1 lab	31dd73b55d
14:102442040 DYNC1H1 G>A	14	102442040	102442040	G	A	DYNC1H1	c.257-9G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102442040G>A	(Likely) benign	1 lab	31df168ffc
9:88356772 AGTPBP1 G>T	9	88356772	88356772	G	T	AGTPBP1	c.106C>A	NM_001286715.1	NP_001273644.1:p.(Arg36=)	NC_000009.11:g.88356772G>T	(Likely) benign	1 lab	31e100e3e7
15:62253984 VPS13C G>A	15	62253984	62253984	G	A	VPS13C	c.3712C>T	NM_001018088.2	NP_001018098.1:p.(Arg1238Cys)	NC_000015.9:g.62253984G>A	VUS	1 lab	31e2a80347
X:49957515 AKAP4 G>C	X	49957515	49957515	G	C	AKAP4	c.1849C>G	NM_003886.2	NP_003877.2:p.(Gln617Glu)	NC_000023.10:g.49957515G>C	(Likely) benign	1 lab	31e2c63b78
13:32968980 BRCA2 T>G	13	32968980	32968980	T	G	BRCA2	c.9411T>G	NM_000059.3	NP_000050.2:p.(Thr3137=)	NC_000013.10:g.32968980T>G	(Likely) benign	1 lab	31e325ee65
X:153219692 HCFC1 G>C	X	153219692	153219692	G	C	HCFC1	c.4158C>G	NM_005334.2	NP_005325.2:p.(Thr1386=)	NC_000023.10:g.153219692G>C	(Likely) benign	1 lab	31e3d1ab9f
12:7362365 PEX5 C>T	12	7362365	7362365	C	T	PEX5	c.1647C>T	NM_001131025.1	NP_001124497.1:p.(Leu549=)	NC_000012.11:g.7362365C>T	(Likely) benign	1 lab	31e3e16711
11:95825260 MAML2 T>TTGC	11	95825260	95825277	T	TTGC	MAML2	c.1932_1934dup	NM_032427.4	NP_115803.1:p.(Gln665dup)	NC_000011.9:g.95825275_95825277dup	VUS	1 lab	e9a86f0b12
15:29561304 NSMCE3 CAG>C	15	29561304	29561307	CAG	C	NSMCE3	c.604_605del	NM_138704.4	NP_619649.1:p.(Leu202AlafsTer23)	NC_000015.9:g.29561306_29561307del	VUS	1 lab	e9ab5e3ef3
19:15281185 NOTCH3 T>C	19	15281185	15281185	T	C	NOTCH3	c.5071A>G	NM_000435.2	NP_000426.2:p.(Lys1691Glu)	NC_000019.9:g.15281185T>C	VUS	1 lab	31e5167939
16:72991696 ZFHX3 TGCCGCCGCCGCCGCAGCCACC>T	16	72991696	72991731	TGCCGCCGCCGCCGCAGCCACC	T	ZFHX3	c.2328_2348del	NM_006885.4	NP_008816.3:p.(Val777_Ala783del)	NC_000016.9:g.72991711_72991731del	(Likely) benign	1 lab	31e57aa0ff
18:11867158 GNAL C>T	18	11867158	11867158	C	T	GNAL	c.852-9C>T	NM_182978.3	NP_892023.1:p.?	NC_000018.9:g.11867158C>T	(Likely) benign	1 lab	31e6b58e81
16:88497022 ZNF469 G>A	16	88497022	88497022	G	A	ZNF469				NC_000016.9:g.88497022G>A	(Likely) benign	1 lab	31e8e297eb
17:29554606 NF1 C>G	17	29554606	29554606	C	G	NF1	c.2391C>G	NM_000267.3	NP_000258.1:p.(Ala797=)	NC_000017.10:g.29554606C>G	(Likely) benign	1 lab	31e9409194
19:3772009 RAX2 C>CTG	19	3772009	3772024	C	CTG	RAX2	c.-130-3_-130-2dup	NM_001319074.1	NP_001306003.1:p.?	NC_000019.9:g.3772023_3772024dup	(Likely) benign	1 lab	31e9e93d2d
7:47921626 PKD1L1 C>T	7	47921626	47921626	C	T	PKD1L1	c.3323G>A	NM_138295.4	NP_612152.1:p.(Gly1108Glu)	NC_000007.13:g.47921626C>T	(Likely) benign	1 lab	31ea110fc3
1:158651421 SPTA1 G>T	1	158651421	158651421	G	T	SPTA1	c.427C>A	NM_003126.4	NP_003117.2:p.(Leu143Met)	NC_000001.10:g.158651421G>T	VUS	1 lab	e9abc9836d
2:29294710 PCARE G>A	2	29294710	29294710	G	A	PCARE	c.2418C>T	NM_001029883.2	NP_001025054.1:p.(Pro806=)	NC_000002.11:g.29294710G>A	(Likely) benign	1 lab	31eb3a226f
1:201186423 IGFN1 A>G	1	201186423	201186423	A	G	IGFN1	c.9604A>G	NM_001164586.1	NP_001158058.1:p.(Lys3202Glu)	NC_000001.10:g.201186423A>G	VUS	1 lab	31eb8830a4
17:79478141 ACTG1 G>A	17	79478141	79478141	G	A	ACTG1	c.803-7C>T	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79478141G>A	(Likely) benign	1 lab	31eb89766e
5:109155551 MAN2A1 T>A	5	109155551	109155551	T	A	MAN2A1	c.2291T>A	NM_002372.3	NP_002363.2:p.(Phe764Tyr)	NC_000005.9:g.109155551T>A	(Likely) benign	1 lab	31ebd316dd
10:97453464 TCTN3 T>G	10	97453464	97453464	T	G	TCTN3	c.193A>C	NM_015631.5	NP_056446.4:p.(Thr65Pro)	NC_000010.10:g.97453464T>G	(Likely) benign	1 lab	31ec1e01e6
17:44109050 KANSL1 C>T	17	44109050	44109050	C	T	KANSL1	c.3110G>A	NM_001193466.2	NP_001180395.1:p.(Arg1037Gln)	NC_000017.10:g.44109050C>T	VUS	1 lab	e9b1ba5a31
X:122459979 GRIA3 G>A	X	122459979	122459979	G	A	GRIA3	c.611G>A	NM_000828.4	NP_000819.3:p.(Arg204His)	NC_000023.10:g.122459979G>A	(Likely) benign	1 lab	31ed43666a
1:151378185 POGZ T>TG	1	151378185	151378186	T	TG	POGZ	c.3325dup	NM_015100.3	NP_055915.2:p.(Gln1109ProfsTer18)	NC_000001.10:g.151378186dup	(Likely) pathogenic	1 lab	31ee5bde12
12:56091571 ITGA7 G>A	12	56091571	56091571	G	A	ITGA7	c.1329C>T	NM_001144996.1	NP_001138468.1:p.(Phe443=)	NC_000012.11:g.56091571G>A	(Likely) benign	1 lab	31ef3d611f
5:82808027 VCAN C>T	5	82808027	82808027	C	T	VCAN	c.854C>T	NM_004385.4	NP_004376.2:p.(Ala285Val)	NC_000005.9:g.82808027C>T	VUS	1 lab	31ef9e7c7b
16:2133810 TSC2 AC>A	16	2133810	2133811	AC	A	TSC2	c.3999del	NM_000548.5	NP_000539.2:p.(Tyr1333Ter)	NC_000016.9:g.2133811del	(Likely) pathogenic	1 lab	31f0c03fba
12:27554459 BMAL2 C>A	12	27554459	27554459	C	A	BMAL2	c.1270C>A	NM_020183.4	NP_064568.3:p.(Leu424Ile)	NC_000012.11:g.27554459C>A	VUS	1 lab	31f0ed84bd
15:28478362 HERC2 T>C	15	28478362	28478362	T	C	HERC2	c.4605A>G	NM_004667.5	NP_004658.3:p.(Lys1535=)	NC_000015.9:g.28478362T>C	(Likely) benign	1 lab	31f352cae4
21:34014214 SYNJ1 C>G	21	34014214	34014214	C	G	SYNJ1	c.3697G>C	NM_203446.2	NP_982271.2:p.(Ala1233Pro)	NC_000021.8:g.34014214C>G	(Likely) benign	1 lab	31f40f4e79
6:35430610 FANCE C>T	6	35430610	35430610	C	T	FANCE	c.1428C>T	NM_021922.2	NP_068741.1:p.(Leu476=)	NC_000006.11:g.35430610C>T	(Likely) benign	1 lab	31f4333c7b
11:65318623 LTBP3 A>T	11	65318623	65318623	A	T	LTBP3	c.1694T>A	NM_001130144.2	NP_001123616.1:p.(Val565Glu)	NC_000011.9:g.65318623A>T	VUS	1 lab	31f4ac4160
13:32972507 BRCA2 T>A	13	32972507	32972507	T	A	BRCA2	c.9857T>A	NM_000059.4	NP_000050.3:p.(Ile3286Asn)	NC_000013.10:g.32972507T>A	VUS	1 lab	e9b24c3920
1:158631171 SPTA1 A>G	1	158631171	158631171	A	G	SPTA1	c.2493T>C	NM_003126.3	NP_003117.2:p.(Leu831=)	NC_000001.10:g.158631171A>G	(Likely) benign	1 lab	31f8795286
5:121413373 LOX C>G	5	121413373	121413373	C	G	LOX	c.308G>C	NM_002317.6	NP_002308.2:p.(Arg103Pro)	NC_000005.9:g.121413373C>G	(Likely) benign	1 lab	31f9077a88
4:187522507 FAT1 C>G	4	187522507	187522507	C	G	FAT1	c.11556G>C	NM_005245.3	NP_005236.2:p.(Glu3852Asp)	NC_000004.11:g.187522507C>G	VUS	1 lab	31fce3784d
X:41084074 USP9X C>T	X	41084074	41084074	C	T	USP9X	c.6831C>T	NM_001039591.3	NP_001034680.2:p.(Asp2277=)	NC_000023.10:g.41084074C>T	(Likely) benign	1 lab	31fdd22c40
6:42627491 UBR2 G>A	6	42627491	42627491	G	A	UBR2	c.3340G>A	NM_015255.2	NP_056070.1:p.(Glu1114Lys)	NC_000006.11:g.42627491G>A	VUS	1 lab	31fef85f4e
19:50827208 KCNC3 C>T	19	50827208	50827208	C	T	KCNC3	c.1002G>A	NM_004977.2	NP_004968.2:p.(Pro334=)	NC_000019.9:g.50827208C>T	(Likely) benign	1 lab	3200108141
11:18322402 HPS5 G>C	11	18322402	18322402	G	C	HPS5	c.958C>G	NM_181507.1	NP_852608.1:p.(Gln320Glu)	NC_000011.9:g.18322402G>C	(Likely) benign	1 lab	3200c12143
8:42188432 IKBKB G>A	8	42188432	42188432	G	A	IKBKB	c.2029G>A	NM_001242778.1	NP_001229707.1:p.(Ala677Thr)	NC_000008.10:g.42188432G>A	(Likely) benign	1 lab	3200d10267
X:129283451 AIFM1 C>T	X	129283451	129283451	C	T	AIFM1	c.342G>A	NM_001130847.3	NP_001124319.1:p.(Ala114=)	NC_000023.10:g.129283451C>T	(Likely) benign	1 lab	3206b962d1
19:42863358 MEGF8 G>C	19	42863358	42863358	G	C	MEGF8	c.5452G>C	NM_001271938.2	NP_001258867.1:p.(Val1818Leu)	NC_000019.9:g.42863358G>C	VUS	1 lab	32095cafcc
2:179631357 TTN T>TAA	2	179631357	179631364	T	TAA	TTN	c.9472-20_9472-19dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179631363_179631364dup	(Likely) benign	1 lab	32099b57a3
2:228884426 SPHKAP G>T	2	228884426	228884426	G	T	SPHKAP	c.1144C>A	NM_001142644.2	NP_001136116.1:p.(Gln382Lys)	NC_000002.11:g.228884426G>T	(Likely) benign	1 lab	3209cbd305
2:206911339 INO80D G>A	2	206911339	206911339	G	A	INO80D	c.965-3C>T	NM_017759.5	NP_060229.3:p.?	NC_000002.11:g.206911339G>A	(Likely) benign	1 lab	320a6d3c30
5:138286901 SIL1 C>T	5	138286901	138286901	C	T	SIL1	c.988G>A	NM_001037633.1	NP_001032722.1:p.(Val330Met)	NC_000005.9:g.138286901C>T	VUS	1 lab	320c64703c
11:74015414 P4HA3 G>C	11	74015414	74015414	G	C	P4HA3	c.244C>G	NM_001288748.1	NP_001275677.1:p.(Pro82Ala)	NC_000011.9:g.74015414G>C	VUS	1 lab	320d0c2f64
5:68840825 OCLN T>C	5	68840825	68840825	T	C	OCLN	c.1132T>C	NM_002538.3	NP_002529.1:p.(Ser378Pro)	NC_000005.9:g.68840825T>C	(Likely) benign	1 lab	320d688246
X:48896698 TFE3 G>A	X	48896698	48896698	G	A	TFE3	c.468C>T	NM_006521.5	NP_006512.2:p.(Gly156=)	NC_000023.10:g.48896698G>A	(Likely) benign	1 lab	320d7f85cc
17:73843958 WBP2 C>T	17	73843958	73843958	C	T	WBP2	c.451G>A	NM_012478.4	NP_036610.2:p.(Gly151Arg)	NC_000017.10:g.73843958C>T	VUS	1 lab	320db25d07
3:113377207 USF3 T>C	3	113377207	113377207	T	C	USF3	c.3322A>G	NM_001009899.3	NP_001009899.3:p.(Thr1108Ala)	NC_000003.11:g.113377207T>C	(Likely) benign	1 lab	320e25d811
15:40920400 KNL1 T>G	15	40920400	40920400	T	G	KNL1	c.5587T>G	NM_170589.4	NP_733468.3:p.(Phe1863Val)	NC_000015.9:g.40920400T>G	(Likely) benign	1 lab	320e5be99e
11:67225141 CABP4 C>T	11	67225141	67225141	C	T	CABP4	c.324C>T	NM_001300895.1	NP_001287824.1:p.(Ile108=)	NC_000011.9:g.67225141C>T	(Likely) benign	1 lab	320ffdabdf
2:209190427 PIKFYVE G>A	2	209190427	209190427	G	A	PIKFYVE	c.2892G>A	NM_015040.3	NP_055855.2:p.(Pro964=)	NC_000002.11:g.209190427G>A	(Likely) benign	1 lab	321035f5c8
2:207173176 ZDBF2 T>G	2	207173176	207173176	T	G	ZDBF2	c.3924T>G	NM_020923.2	NP_065974.1:p.(Asn1308Lys)	NC_000002.11:g.207173176T>G	VUS	1 lab	3210daeb0d
17:36508573 SOCS7 G>A	17	36508573	36508573	G	A	SOCS7	c.638G>A	NM_014598.4	NP_055413.2:p.(Arg213Gln)	NC_000017.10:g.36508573G>A	VUS	1 lab	3210dd53e1
11:94192631 MRE11 T>C	11	94192631	94192631	T	C	MRE11	c.1443A>G	NM_001330347.1	NP_001317276.1:p.(Thr481=)	NC_000011.9:g.94192631T>C	(Likely) benign	1 lab	321372e658
X:7066112 STS T>C	X	7066112	7066112	T	C	STS	c.-264T>C	NM_001320751.2	NP_001307680.1:p.?	NC_000023.10:g.7066112T>C	VUS	1 lab	e9bcde8f28
13:99574381 MISSING G>A	13	99574381	99574381	G	A	MISSING				NC_000013.10:g.99574381G>A	VUS	1 lab	321493b094
19:48801250 ODAD1 G>A	19	48801250	48801250	G	A	ODAD1	c.1502+7C>T	NM_001364171.1	NP_001351100.1:p.?	NC_000019.9:g.48801250G>A	(Likely) benign	1 lab	3214b221d2
4:183714268 TENM3 T>C	4	183714268	183714268	T	C	TENM3	c.6443T>C	NM_001080477.3	NP_001073946.1:p.(Met2148Thr)	NC_000004.11:g.183714268T>C	(Likely) benign	1 lab	3215165530
19:10488958 TYK2 G>T	19	10488958	10488958	G	T	TYK2	c.125C>A	NM_003331.4	NP_003322.3:p.(Pro42His)	NC_000019.9:g.10488958G>T	(Likely) benign	1 lab	3215242568
8:12945995 DLC1 C>T	8	12945995	12945995	C	T	DLC1	c.4292+1G>A	NM_182643.3	NP_872584.2:p.?	NC_000008.10:g.12945995C>T	VUS	1 lab	e9c0621eac
5:45262899 HCN1 T>C	5	45262899	45262899	T	C	HCN1	c.1797A>G	NM_021072.3	NP_066550.2:p.(Ser599=)	NC_000005.9:g.45262899T>C	(Likely) benign	1 lab	32165a47e6
3:38647543 SCN5A C>A	3	38647543	38647543	C	A	SCN5A	c.1237G>T	NM_198056.3	NP_932173.1:p.(Ala413Ser)	NC_000003.11:g.38647543C>A	VUS	1 lab	e9c29992e5
10:72358128 PRF1 G>A	10	72358128	72358128	G	A	PRF1	c.1349C>T	NM_001083116.1	NP_001076585.1:p.(Thr450Met)	NC_000010.10:g.72358128G>A	(Likely) pathogenic	1 lab	321761e3a6
8:100523369 VPS13B A>G	8	100523369	100523369	A	G	VPS13B	c.4337A>G	NM_017890.4	NP_060360.3:p.(His1446Arg)	NC_000008.10:g.100523369A>G	VUS	1 lab	32176c359a
7:40234612 SUGCT A>C	7	40234612	40234612	A	C	SUGCT	c.458A>C	NM_001193311.1	NP_001180240.1:p.(Glu153Ala)	NC_000007.13:g.40234612A>C	(Likely) benign	1 lab	3217df5eba
6:107031255 RTN4IP1 A>G	6	107031255	107031255	A	G	RTN4IP1	c.1031T>C	NM_032730.5	NP_116119.2:p.(Met344Thr)	NC_000006.11:g.107031255A>G	(Likely) benign	1 lab	3217f818fb
17:76993602 CANT1 C>T	17	76993602	76993602	C	T	CANT1	c.103G>A	NM_138793.3	NP_620148.1:p.(Ala35Thr)	NC_000017.10:g.76993602C>T	(Likely) benign	1 lab	3218a39be5
19:42482861 ATP1A3 G>A	19	42482861	42482861	G	A	ATP1A3	c.1566C>T	NM_001256214.1	NP_001243143.1:p.(Ser522=)	NC_000019.9:g.42482861G>A	(Likely) benign	1 lab	321927870c
11:77412038 RSF1 G>C	11	77412038	77412038	G	C	RSF1	c.2236C>G	NM_016578.3	NP_057662.3:p.(Pro746Ala)	NC_000011.9:g.77412038G>C	VUS	1 lab	3219671c34
19:21607223 ZNF493 C>T	19	21607223	21607223	C	T	ZNF493	c.1762C>T	NM_001076678.2	NP_001070146.1:p.(Leu588Phe)	NC_000019.9:g.21607223C>T	(Likely) benign	1 lab	321b532cf5
6:165792715 PDE10A G>A	6	165792715	165792715	G	A	PDE10A	c.1923C>T	NM_006661.3	NP_006652.1:p.(Thr641=)	NC_000006.11:g.165792715G>A	(Likely) benign	1 lab	321bbe4432
21:46932212 COL18A1 C>T	21	46932212	46932212	C	T	COL18A1	c.5156C>T	NM_130444.3	NP_569711.2:p.(Ser1719Leu)	NC_000021.8:g.46932212C>T	VUS	1 lab	321dd35705
16:70986509 HYDIN T>TGA	16	70986509	70986511	T	TGA	HYDIN	c.6344_6345dup	NM_001270974.2	NP_001257903.1:p.(Ile2116SerfsTer2)	NC_000016.9:g.70986510_70986511dup	VUS	1 lab	321f952e35
X:150840707 PASD1 G>C	X	150840707	150840707	G	C	PASD1	c.1490G>C	NM_173493.2	NP_775764.2:p.(Arg497Pro)	NC_000023.10:g.150840707G>C	(Likely) benign	1 lab	3220a0cd19
6:152717961 SYNE1 TG>T	6	152717961	152717962	TG	T	SYNE1	c.7504del	NM_182961.4	NP_892006.3:p.(Gln2502AsnfsTer26)	NC_000006.11:g.152717962del	(Likely) pathogenic	1 lab	32239db3a8
11:121421361 SORL1 G>A	11	121421361	121421361	G	A	SORL1	c.2248G>A	NM_003105.5	NP_003096.1:p.(Val750Ile)	NC_000011.9:g.121421361G>A	VUS	1 lab	32242e68d8
1:94490570 ABCA4 A>G	1	94490570	94490570	A	G	ABCA4	c.4574T>C	NM_000350.2	NP_000341.2:p.(Leu1525Pro)	NC_000001.10:g.94490570A>G	(Likely) pathogenic	1 lab	3224ae02e8
X:53222969 KDM5C C>G	X	53222969	53222969	C	G	KDM5C	c.4103G>C	NM_004187.3	NP_004178.2:p.(Gly1368Ala)	NC_000023.10:g.53222969C>G	VUS	1 lab	3225b67df6
X:41204425 DDX3X CAT>C	X	41204425	41204427	CAT	C	DDX3X	c.1026-7_1026-6del	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41204426_41204427del	VUS	1 lab	32261aba20
19:9064361 MUC16 G>A	19	9064361	9064361	G	A	MUC16	c.23085C>T	NM_024690.2	NP_078966.2:p.(Ala7695=)	NC_000019.9:g.9064361G>A	(Likely) benign	1 lab	32264ec5a6
22:47189678 TBC1D22A C>A	22	47189678	47189678	C	A	TBC1D22A	c.310C>A	NM_001284304.1	NP_001271233.1:p.(Pro104Thr)	NC_000022.10:g.47189678C>A	(Likely) benign	1 lab	3226539708
X:48925139 CCDC120 T>G	X	48925139	48925139	T	G	CCDC120	c.1348T>G	NM_001163322.2	NP_001156794.1:p.(Trp450Gly)	NC_000023.10:g.48925139T>G	VUS	1 lab	322709db86
X:591686 SHOX C>T	X	591686	591686	C	T	SHOX	c.54C>T	NM_000451.3	NP_000442.1:p.(Asp18=)	NC_000023.10:g.591686C>T	(Likely) benign	1 lab	32281b321f
5:176813484 SLC34A1 T>A	5	176813484	176813484	T	A	SLC34A1	c.449T>A	NM_003052.5	NP_003043.3:p.(Leu150Gln)	NC_000005.9:g.176813484T>A	VUS	1 lab	e9c8e9a1b6
17:29549008 NF1 AAATATTAACTCTGTA>TACTTT	17	29549008	29549023	AAATATTAACTCTGTA	TACTTT	NF1	c.1721+61_1721+76delinsTACTTT	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29549008_29549023delinsTACTTT	(Likely) benign	1 lab	3228386e79
11:637462 DRD4 C>T	11	637462	637462	C	T	DRD4	c.158C>T	NM_000797.3	NP_000788.2:p.(Ser53Leu)	NC_000011.9:g.637462C>T	(Likely) benign	1 lab	3228c4e01e
6:7570666 DSP T>G	6	7570666	7570666	T	G	DSP	c.1575-4T>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7570666T>G	(Likely) benign	1 lab	3229c3ac8d
X:84301498 APOOL T>C	X	84301498	84301498	T	C	APOOL	c.62T>C	NM_198450.5	NP_940852.3:p.(Val21Ala)	NC_000023.10:g.84301498T>C	(Likely) benign	1 lab	322a5ca4aa
15:83495529 WHAMM G>A	15	83495529	83495529	G	A	WHAMM	c.1572G>A	NM_001080435.3	NP_001073904.1:p.(Glu524=)	NC_000015.9:g.83495529G>A	(Likely) benign	1 lab	322bbe0e2a
10:69896471 MYPN G>A	10	69896471	69896471	G	A	MYPN	c.3G>A	NM_001256268.1	NP_001243197.1:p.(Met1?)	NC_000010.10:g.69896471G>A	VUS	1 lab	322e1bea11
X:48839841 GRIPAP1 C>T	X	48839841	48839841	C	T	GRIPAP1	c.1284G>A	NM_020137.4	NP_064522.3:p.(Lys428=)	NC_000023.10:g.48839841C>T	(Likely) benign	1 lab	3231bb7161
17:29585464 NF1 AT>A	17	29585464	29585468	AT	A	NF1	c.4280del	NM_001042492.3	NP_001035957.1:p.(Leu1427Ter)	NC_000017.10:g.29585468del	(Likely) pathogenic	1 lab	323238844d
1:26527998 CATSPER4 TAGCATGGAA>T	1	26527998	26528008	TAGCATGGAA	T	CATSPER4	c.1355_1363del	NM_198137.2	NP_937770.1:p.(Ser452_Glu454del)	NC_000001.10:g.26528000_26528008del	VUS	1 lab	3234f80380
16:57684225 ADGRG1 C>T	16	57684225	57684225	C	T	ADGRG1	c.26C>T	NM_005682.6	NP_005673.3:p.(Thr9Met)	NC_000016.9:g.57684225C>T	(Likely) benign	1 lab	3238a91c30
11:17615244 OTOG A>G	11	17615244	17615244	A	G	OTOG	c.3265A>G	NM_001277269.1	NP_001264198.1:p.(Ile1089Val)	NC_000011.9:g.17615244A>G	(Likely) benign	1 lab	323966ec08
X:153715964 SLC10A3 C>T	X	153715964	153715964	C	T	SLC10A3	c.1316G>A	NM_019848.4	NP_062822.1:p.(Arg439His)	NC_000023.10:g.153715964C>T	VUS	1 lab	32399e39fb
10:134722050 CFAP46 G>A	10	134722050	134722050	G	A	CFAP46	c.2846C>T	NM_001200049.3	NP_001186978.2:p.(Ala949Val)	NC_000010.10:g.134722050G>A	VUS	1 lab	323c07e2da
14:102900970 TECPR2 G>C	14	102900970	102900970	G	C	TECPR2	c.1816G>C	NM_014844.4	NP_055659.2:p.(Asp606His)	NC_000014.8:g.102900970G>C	VUS	1 lab	323eafe83e
3:179462883 USP13 AC>A	3	179462883	179462887	AC	A	USP13	c.1591del	NM_003940.3	NP_003931.2:p.(Leu531PhefsTer39)	NC_000003.11:g.179462887del	VUS	1 lab	323eb0c5f3
7:107302221 SLC26A4 G>T	7	107302221	107302221	G	T	SLC26A4	c.135G>T	NM_000441.1	NP_000432.1:p.(Thr45=)	NC_000007.13:g.107302221G>T	(Likely) benign	1 lab	324209f9f4
1:65304232 JAK1 C>T	1	65304232	65304232	C	T	JAK1	c.2883G>A	NM_001321853.1	NP_001308782.1:p.(Ser961=)	NC_000001.10:g.65304232C>T	(Likely) benign	1 lab	324395a1bd
16:77328824 ADAMTS18 G>T	16	77328824	77328824	G	T	ADAMTS18	c.2486C>A	NM_001326358.1	NP_001313287.1:p.(Ser829Tyr)	NC_000016.9:g.77328824G>T	VUS	1 lab	32446fdb45
6:159026354 TMEM181 TTG>T	6	159026354	159026358	TTG	T	TMEM181	c.551_552del	NM_001376852.1	NP_001363781.1:p.(Val184GlyfsTer41)	NC_000006.11:g.159026357_159026358del	VUS	1 lab	3246582682
X:107834403 COL4A5 G>A	X	107834403	107834403	G	A	COL4A5	c.1281G>A	NM_033380.2	NP_203699.1:p.(Gln427=)	NC_000023.10:g.107834403G>A	(Likely) benign	1 lab	324804b1be
22:24177124 DERL3 G>A	22	24177124	24177124	G	A	DERL3	c.615-5C>T	NM_001135751.1	NP_001129223.1:p.?	NC_000022.10:g.24177124G>A	(Likely) benign	1 lab	3248d8dac2
19:11322726 DOCK6 G>T	19	11322726	11322726	G	T	DOCK6	c.4593C>A	NM_020812.3	NP_065863.2:p.(Thr1531=)	NC_000019.9:g.11322726G>T	(Likely) benign	1 lab	324970eb32
22:24717648 SPECC1L C>T	22	24717648	24717648	C	T	SPECC1L	c.700C>T	NM_015330.6	NP_056145.5:p.(His234Tyr)	NC_000022.10:g.24717648C>T	VUS	1 lab	e9d08c67c0
2:203383780 BMPR2 G>A	2	203383780	203383780	G	A	BMPR2	c.852+5G>A	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203383780G>A	VUS	1 lab	e9d14002f5
12:1906632 CACNA2D4 G>A	12	1906632	1906632	G	A	CACNA2D4	c.3065C>T	NM_172364.4	NP_758952.4:p.(Pro1022Leu)	NC_000012.11:g.1906632G>A	VUS	1 lab	324b57fe51
15:49030959 CEP152 T>C	15	49030959	49030959	T	C	CEP152	c.4620A>G	NM_001194998.1	NP_001181927.1:p.(Pro1540=)	NC_000015.9:g.49030959T>C	(Likely) benign	1 lab	324ba3174b
X:132833980 GPC3 T>C	X	132833980	132833980	T	C	GPC3	c.1178A>G	NM_001164617.1	NP_001158089.1:p.(Lys393Arg)	NC_000023.10:g.132833980T>C	(Likely) benign	1 lab	324c53112f
3:52842605 ITIH3 G>T	3	52842605	52842605	G	T	ITIH3	c.2581G>T	NM_002217.3	NP_002208.3:p.(Gly861Cys)	NC_000003.11:g.52842605G>T	VUS	1 lab	324cdcff62
15:52676508 MYO5A T>C	15	52676508	52676508	T	C	MYO5A	c.1764A>G	NM_000259.3	NP_000250.3:p.(Leu588=)	NC_000015.9:g.52676508T>C	(Likely) benign	1 lab	324d94235d
1:193119494 CDC73 A>C	1	193119494	193119494	A	C	CDC73	c.889A>C	NM_024529.4	NP_078805.3:p.(Arg297=)	NC_000001.10:g.193119494A>C	(Likely) benign	1 lab	324d9a84ba
1:193181590 CDC73 C>G	1	193181590	193181590	C	G	CDC73	c.1137C>G	NM_024529.4	NP_078805.3:p.(Asp379Glu)	NC_000001.10:g.193181590C>G	(Likely) benign	1 lab	3251eea8b9
3:69247888 FRMD4B C>T	3	69247888	69247888	C	T	FRMD4B	c.914G>A	NM_015123.2	NP_055938.1:p.(Arg305His)	NC_000003.11:g.69247888C>T	VUS	1 lab	325286fb67
11:6653478 DCHS1 C>T	11	6653478	6653478	C	T	DCHS1	c.3265G>A	NM_003737.4	NP_003728.1:p.(Ala1089Thr)	NC_000011.9:g.6653478C>T	VUS	1 lab	e9d515b338
5:140579683 PCDHB11 C>A	5	140579683	140579683	C	A	PCDHB11	c.336C>A	NM_018931.2	NP_061754.1:p.(Asn112Lys)	NC_000005.9:g.140579683C>A	VUS	1 lab	3255dcc822
8:17868817 PCM1 A>C	8	17868817	17868817	A	C	PCM1	c.5409A>C	NM_001352650.1	NP_001339579.1:p.(Arg1803Ser)	NC_000008.10:g.17868817A>C	(Likely) benign	1 lab	32561ee666
7:44104505 PGAM2 T>C	7	44104505	44104505	T	C	PGAM2	c.521A>G	NM_000290.3	NP_000281.2:p.(Gln174Arg)	NC_000007.13:g.44104505T>C	VUS	1 lab	325847ae1d
20:42265782 IFT52 T>C	20	42265782	42265782	T	C	IFT52	c.484-3T>C	NM_001323578.1	NP_001310507.1:p.?	NC_000020.10:g.42265782T>C	(Likely) benign	1 lab	325af3f94f
17:29553703 NF1 GT>G	17	29553703	29553704	GT	G	NF1	c.2251+2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29553704del	(Likely) pathogenic	1 lab	325b8b8398
X:66766196 AR CGGCG>C	X	66766196	66766200	CGGCG	C	AR	c.1209_1212del	NM_000044.6	NP_000035.2:p.(Ala404SerfsTer74)	NC_000023.10:g.66766197_66766200del	(Likely) pathogenic	1 lab	32607331b8
11:76901916 MYO7A G>A	11	76901916	76901916	G	A	MYO7A	c.3924+1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76901916G>A	(Likely) pathogenic	1 lab	3260d367c4
1:231057252 TTC13 T>C	1	231057252	231057252	T	C	TTC13	c.1815-2A>G	NM_024525.5	NP_078801.3:p.?	NC_000001.10:g.231057252T>C	VUS	1 lab	32670678e7
6:131931308 MED23 C>A	6	131931308	131931308	C	A	MED23	c.955G>T	NM_004830.4	NP_004821.2:p.(Glu319Ter)	NC_000006.11:g.131931308C>A	VUS	1 lab	3267c0d172
2:197184289 HECW2 C>T	2	197184289	197184289	C	T	HECW2	c.1325G>A	NM_020760.3	NP_065811.1:p.(Gly442Asp)	NC_000002.11:g.197184289C>T	VUS	1 lab	3268143d87
X:153692557 PLXNA3 G>A	X	153692557	153692557	G	A	PLXNA3	c.1729G>A	NM_017514.4	NP_059984.3:p.(Glu577Lys)	NC_000023.10:g.153692557G>A	VUS	1 lab	32682cb88c
1:155784197 GON4L C>T	1	155784197	155784197	C	T	GON4L	c.1205G>A	NM_001282860.1	NP_001269789.1:p.(Arg402His)	NC_000001.10:g.155784197C>T	VUS	1 lab	3268ec6210
6:66005908 EYS G>A	6	66005908	66005908	G	A	EYS	c.1871C>T	NM_001292009.1	NP_001278938.1:p.(Ser624Leu)	NC_000006.11:g.66005908G>A	(Likely) benign	1 lab	3268f3ac99
11:67223108 CABP4 A>C	11	67223108	67223108	A	C	CABP4	c.214A>C	NM_145200.3	NP_660201.1:p.(Asn72His)	NC_000011.9:g.67223108A>C	(Likely) benign	1 lab	32699b93b2
12:49431094 KMT2D T>C	12	49431094	49431094	T	C	KMT2D	c.10045A>G	NM_003482.3	NP_003473.3:p.(Met3349Val)	NC_000012.11:g.49431094T>C	(Likely) benign	1 lab	3269b024b7
7:26404688 SNX10 T>C	7	26404688	26404688	T	C	SNX10	c.234T>C	NM_001199835.1	NP_001186764.1:p.(Ser78=)	NC_000007.13:g.26404688T>C	(Likely) benign	1 lab	326a35551b
9:123280937 CDK5RAP2 C>T	9	123280937	123280937	C	T	CDK5RAP2	c.1093-14G>A	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123280937C>T	(Likely) benign	1 lab	326b8a4283
9:133946903 LAMC3 G>A	9	133946903	133946903	G	A	LAMC3	c.3102G>A	NM_006059.3	NP_006050.3:p.(Thr1034=)	NC_000009.11:g.133946903G>A	(Likely) benign	1 lab	326c0a7427
16:89597088 SPG7 C>T	16	89597088	89597088	C	T	SPG7	c.862-3C>T	NM_001363850.1	NP_001350779.1:p.?	NC_000016.9:g.89597088C>T	(Likely) benign	1 lab	326d841233
20:47990634 KCNB1 C>T	20	47990634	47990634	C	T	KCNB1	c.1463G>A	NM_004975.3	NP_004966.1:p.(Trp488Ter)	NC_000020.10:g.47990634C>T	(Likely) pathogenic	1 lab	326e7b4504
17:29528507 NF1 A>G	17	29528507	29528507	A	G	NF1	c.1260+4A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528507A>G	VUS	1 lab	327007384f
16:70969871 HYDIN T>G	16	70969871	70969871	T	G	HYDIN	c.7142A>C	NM_001270974.2	NP_001257903.1:p.(Gln2381Pro)	NC_000016.9:g.70969871T>G	(Likely) benign	1 lab	3270f95c1d
5:76717739 PDE8B G>A	5	76717739	76717739	G	A	PDE8B	c.1972G>A	NM_001349753.1	NP_001336682.1:p.(Val658Met)	NC_000005.9:g.76717739G>A	VUS	1 lab	327318a4bd
16:71163691 HYDIN T>C	16	71163691	71163691	T	C	HYDIN	c.1079A>G	NM_001270974.2	NP_001257903.1:p.(Glu360Gly)	NC_000016.9:g.71163691T>C	VUS	1 lab	3273803a6a
4:187516977 FAT1 T>C	4	187516977	187516977	T	C	FAT1	c.13004A>G	NM_005245.3	NP_005236.2:p.(Lys4335Arg)	NC_000004.11:g.187516977T>C	VUS	1 lab	3277c6ed6b
X:1413255 CSF2RA T>C	X	1413255	1413255	T	C	CSF2RA	c.681T>C	NM_001161529.1	NP_001155001.1:p.(Arg227=)	NC_000023.10:g.1413255T>C	(Likely) benign	1 lab	3277f502e7
2:178682558 PDE11A A>ATATAAAC	2	178682558	178682559	A	ATATAAAC	PDE11A	c.1644+26_1644+27insGTTTATA	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178682558_178682559insTATAAAC	(Likely) benign	1 lab	e9d9fe2782
3:53844159 CACNA1D T>A	3	53844159	53844159	T	A	CACNA1D	c.6086T>A	NM_000720.3	NP_000711.1:p.(Leu2029Gln)	NC_000003.11:g.53844159T>A	(Likely) benign	1 lab	3279aece98
6:152655280 SYNE1 G>A	6	152655280	152655280	G	A	SYNE1	c.12657C>T	NM_182961.3	NP_892006.3:p.(Leu4219=)	NC_000006.11:g.152655280G>A	(Likely) benign	1 lab	327b1e8b85
16:68725720 CDH3 G>A	16	68725720	68725720	G	A	CDH3	c.1893G>A	NM_001317195.1	NP_001304124.1:p.(Thr631=)	NC_000016.9:g.68725720G>A	(Likely) benign	1 lab	327c85f528
4:177037008 WDR17 T>C	4	177037008	177037008	T	C	WDR17	c.257T>C	NM_170710.4	NP_733828.2:p.(Ile86Thr)	NC_000004.11:g.177037008T>C	VUS	1 lab	327cd3a41a
13:26125582 ATP8A2 C>T	13	26125582	26125582	C	T	ATP8A2	c.998C>T	NM_016529.5	NP_057613.4:p.(Ala333Val)	NC_000013.10:g.26125582C>T	(Likely) benign	1 lab	327d5719f2
1:155449067 MISSING G>A	1	155449067	155449067	G	A	MISSING				NC_000001.10:g.155449067G>A	(Likely) benign	1 lab	327e5059f0
5:140856424 PCDHGC3 C>G	5	140856424	140856424	C	G	PCDHGC3	c.741C>G	NM_002588.4	NP_002579.2:p.(Ser247=)	NC_000005.9:g.140856424C>G	(Likely) benign	1 lab	327f5377c4
8:61768757 CHD7 C>A	8	61768757	61768757	C	A	CHD7				NC_000008.10:g.61768757C>A	(Likely) pathogenic	1 lab	328833ff68
22:38161714 TRIOBP C>T	22	38161714	38161714	C	T	TRIOBP	c.6362C>T	NM_001039141.2	NP_001034230.1:p.(Ser2121Leu)	NC_000022.10:g.38161714C>T	VUS	1 lab	328967e03b
10:102770283 PDZD7 T>G	10	102770283	102770283	T	G	PDZD7	c.2363A>C	NM_001195263.1	NP_001182192.1:p.(Gln788Pro)	NC_000010.10:g.102770283T>G	(Likely) benign	1 lab	328abceef5
12:96988108 CFAP54 T>C	12	96988108	96988108	T	C	CFAP54	c.3400T>C	NM_001306084.2	NP_001293013.1:p.(Leu1134=)	NC_000012.11:g.96988108T>C	(Likely) benign	1 lab	328b7df77b
9:136596517 SARDH G>A	9	136596517	136596517	G	A	SARDH	c.600C>T	NM_007101.3	NP_009032.2:p.(Tyr200=)	NC_000009.11:g.136596517G>A	(Likely) benign	1 lab	328cd808bf
4:13481048 RAB28 T>G	4	13481048	13481048	T	G	RAB28	c.172+6A>C	NM_004249.3	NP_004240.2:p.?	NC_000004.11:g.13481048T>G	(Likely) benign	1 lab	328d1132bb
19:42492254 ATP1A3 C>T	19	42492254	42492254	C	T	ATP1A3	c.230G>A	NM_001256214.1	NP_001243143.1:p.(Arg77Gln)	NC_000019.9:g.42492254C>T	VUS	1 lab	328d243962
12:40875140 MUC19 G>C	12	40875140	40875140	G	C	MUC19	c.8386G>C	NM_173600.2	NP_775871.2:p.(Glu2796Gln)	NC_000012.11:g.40875140G>C	VUS	1 lab	328dc5de7f
1:201166349 IGFN1 A>T	1	201166349	201166349	A	T	IGFN1	c.271A>T	NM_001164586.1	NP_001158058.1:p.(Asn91Tyr)	NC_000001.10:g.201166349A>T	VUS	1 lab	328f57ad31
7:5568249 ACTB G>A	7	5568249	5568249	G	A	ACTB	c.465C>T	NM_001101.3	NP_001092.1:p.(Ser155=)	NC_000007.13:g.5568249G>A	(Likely) benign	1 lab	328fa18e00
9:139403331 NOTCH1 G>T	9	139403331	139403331	G	T	NOTCH1	c.3162C>A	NM_017617.5	NP_060087.3:p.(Pro1054=)	NC_000009.11:g.139403331G>T	(Likely) benign	1 lab	329314a044
13:26144957 ATP8A2 C>T	13	26144957	26144957	C	T	ATP8A2	c.1526C>T	NM_016529.5	NP_057613.4:p.(Thr509Met)	NC_000013.10:g.26144957C>T	VUS	1 lab	3293bb1269
12:21325615 SLCO1B1 T>A	12	21325615	21325615	T	A	SLCO1B1	c.116T>A	NM_006446.4	NP_006437.3:p.(Ile39Asn)	NC_000012.11:g.21325615T>A	VUS	1 lab	32949e1532
12:56479094 ERBB3 T>G	12	56479094	56479094	T	G	ERBB3	c.421+129T>G	NM_001982.4	NP_001973.2:p.?	NC_000012.11:g.56479094T>G	VUS	1 lab	e9dd73bf97
2:192251952 MYO1B G>A	2	192251952	192251952	G	A	MYO1B	c.1557G>A	NM_001130158.3	NP_001123630.1:p.(Val519=)	NC_000002.11:g.192251952G>A	(Likely) benign	1 lab	3296ccd999
1:235840903 LYST A>C	1	235840903	235840903	A	C	LYST	c.10817T>G	NM_001301365.1	NP_001288294.1:p.(Met3606Arg)	NC_000001.10:g.235840903A>C	VUS	1 lab	3297819f9f
9:133946902 LAMC3 C>T	9	133946902	133946902	C	T	LAMC3	c.3101C>T	NM_006059.3	NP_006050.3:p.(Thr1034Met)	NC_000009.11:g.133946902C>T	(Likely) benign	1 lab	329a7a929d
18:19751624 GATA6 G>C	18	19751624	19751624	G	C	GATA6	c.519G>C	NM_005257.5	NP_005248.2:p.(Ala173=)	NC_000018.9:g.19751624G>C	(Likely) benign	1 lab	329c3d773c
2:74598656 DCTN1 G>A	2	74598656	74598656	G	A	DCTN1	c.645+8C>T	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74598656G>A	(Likely) benign	1 lab	329cb4e28b
2:179606117 TTN C>T	2	179606117	179606117	C	T	TTN	c.11843G>A	NM_001267550.1	NP_001254479.1:p.(Arg3948His)	NC_000002.11:g.179606117C>T	VUS	1 lab	329d05ba1a
6:112476812 LAMA4 A>G	6	112476812	112476812	A	G	LAMA4	c.1914T>C	NM_001105206.2	NP_001098676.2:p.(Asn638=)	NC_000006.11:g.112476812A>G	(Likely) benign	1 lab	329d118fa2
17:78083787 GAA C>T	17	78083787	78083787	C	T	GAA	c.1370C>T	NM_000152.3	NP_000143.2:p.(Pro457Leu)	NC_000017.10:g.78083787C>T	(Likely) pathogenic	1 lab	329e4dc489
8:100026024 VPS13B A>T	8	100026024	100026024	A	T	VPS13B	c.8A>T	NM_017890.4	NP_060360.3:p.(Glu3Val)	NC_000008.10:g.100026024A>T	VUS	1 lab	329eed4bea
9:42410467 ANKRD20A2P C>A	9	42410467	42410467	C	A	ANKRD20A2P	c.2456C>A	NM_001012421.1	NP_001012421.1:p.(Ser819Tyr)	NC_000009.11:g.42410467C>A	(Likely) benign	1 lab	32a09b16c6
5:76700601 PDE8B A>G	5	76700601	76700601	A	G	PDE8B	c.1267A>G	NM_003719.3	NP_003710.1:p.(Ile423Val)	NC_000005.9:g.76700601A>G	(Likely) benign	1 lab	32a09b4ca4
15:49090255 CEP152 C>T	15	49090255	49090255	C	T	CEP152	c.88-7G>A	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49090255C>T	(Likely) benign	1 lab	32a0b18c21
6:42946486 PEX6 CG>C	6	42946486	42946489	CG	C	PEX6	c.402del	NM_000287.4	NP_000278.3:p.(Gly135AspfsTer23)	NC_000006.11:g.42946489del	(Likely) pathogenic	1 lab	32a0b2bca0
10:73767792 CHST3 G>A	10	73767792	73767792	G	A	CHST3	c.1003G>A	NM_004273.4	NP_004264.2:p.(Glu335Lys)	NC_000010.10:g.73767792G>A	VUS	1 lab	32a27758b5
17:29557286 NF1 G>A	17	29557286	29557286	G	A	NF1	c.2999G>A	NM_000267.3	NP_000258.1:p.(Arg1000His)	NC_000017.10:g.29557286G>A	(Likely) benign	1 lab	32a3466b5f
2:179603911 TTN G>A	2	179603911	179603911	G	A	TTN	c.14049C>T	NM_001267550.1	NP_001254479.1:p.(Ser4683=)	NC_000002.11:g.179603911G>A	(Likely) benign	1 lab	32a4d146c6
1:9781272 PIK3CD G>C	1	9781272	9781272	G	C	PIK3CD	c.1777G>C	NM_005026.3	NP_005017.3:p.(Gly593Arg)	NC_000001.10:g.9781272G>C	(Likely) benign	1 lab	32a8033456
X:134715529 INTS6L A>G	X	134715529	134715529	A	G	INTS6L	c.2665A>G	NM_001351601.1	NP_001338530.1:p.(Ile889Val)	NC_000023.10:g.134715529A>G	VUS	1 lab	32a8766dc3
15:89838236 FANCI G>A	15	89838236	89838236	G	A	FANCI	c.2547=	NM_001113378.2	NP_001106849.1:p.(Lys849=)	NC_000015.9:g.89838236G>A	(Likely) benign	1 lab	e9e8757f62
15:51868380 DMXL2 TAAA>T	15	51868380	51868400	TAAA	T	DMXL2	c.88-5_88-3del	NM_001174116.3	NP_001167587.1:p.?	NC_000015.9:g.51868398_51868400del	(Likely) benign	1 lab	e9ea9766e0
8:145740392 RECQL4 C>T	8	145740392	145740392	C	T	RECQL4	c.1548G>A	NM_004260.3	NP_004251.3:p.(Ala516=)	NC_000008.10:g.145740392C>T	(Likely) benign	1 lab	32ade23cc2
X:8536293 ANOS1 G>A	X	8536293	8536293	G	A	ANOS1	c.1187C>T	NM_000216.3	NP_000207.2:p.(Ser396Leu)	NC_000023.10:g.8536293G>A	(Likely) benign	1 lab	32ae9d7d8e
2:55470612 MTIF2 G>A	2	55470612	55470612	G	A	MTIF2	c.1504C>T	NM_001005369.1	NP_001005369.1:p.(Pro502Ser)	NC_000002.11:g.55470612G>A	(Likely) benign	1 lab	32af221cf9
X:15646145 CLTRN C>T	X	15646145	15646145	C	T	CLTRN	c.618G>A	NM_020665.5	NP_065716.1:p.(Gly206=)	NC_000023.10:g.15646145C>T	(Likely) benign	1 lab	32af8a1533
9:117169155 WHRN G>A	9	117169155	117169155	G	A	WHRN	c.1716C>T	NM_015404.3	NP_056219.3:p.(Thr572=)	NC_000009.11:g.117169155G>A	(Likely) benign	1 lab	32aff71265
X:47065381 UBA1 G>A	X	47065381	47065381	G	A	UBA1	c.1610G>A	NM_003334.4	NP_003325.2:p.(Arg537His)	NC_000023.10:g.47065381G>A	(Likely) benign	1 lab	32b9984eae
1:11856405 MTHFR T>C	1	11856405	11856405	T	C	MTHFR	c.638A>G	NM_005957.4	NP_005948.3:p.(His213Arg)	NC_000001.10:g.11856405T>C	(Likely) benign	1 lab	32b02a0977
5:11346601 CTNND2 C>T	5	11346601	11346601	C	T	CTNND2	c.1511G>A	NM_001332.3	NP_001323.1:p.(Arg504Gln)	NC_000005.9:g.11346601C>T	VUS	1 lab	32b0e6e815
11:55032623 MISSING C>A	11	55032623	55032623	C	A	MISSING				NC_000011.9:g.55032623C>A	(Likely) benign	1 lab	32b29178c2
17:29586047 NF1 TAGATACTTC>T	17	29586047	29586059	TAGATACTTC	T	NF1	c.4334_4342del	NM_001042492.3	NP_001035957.1:p.(Ile1445_Gln1447del)	NC_000017.10:g.29586051_29586059del	(Likely) pathogenic	1 lab	32b41999dd
16:2133759 TSC2 GGTTGGAGGAC>G	16	2133759	2133773	GGTTGGAGGAC	G	TSC2	c.3952_3961del	NM_000548.5	NP_000539.2:p.(Glu1318ArgfsTer4)	NC_000016.9:g.2133764_2133773del	(Likely) pathogenic	1 lab	32b480de12
19:42753283 ERF G>A	19	42753283	42753283	G	A	ERF	c.981C>T	NM_006494.3	NP_006485.2:p.(Ser327=)	NC_000019.9:g.42753283G>A	(Likely) benign	1 lab	32b55f2105
8:48690335 PRKDC A>G	8	48690335	48690335	A	G	PRKDC	c.11954T>C	NM_006904.6	NP_008835.5:p.(Val3985Ala)	NC_000008.10:g.48690335A>G	VUS	1 lab	32b5a4325b
17:39928098 JUP C>G	17	39928098	39928098	C	G	JUP	c.9G>C	NM_002230.4	NP_002221.1:p.(Val3=)	NC_000017.10:g.39928098C>G	(Likely) benign	1 lab	e9eea7d439
20:398562 RBCK1 C>T	20	398562	398562	C	T	RBCK1	c.322C>T	NM_006462.5	NP_006453.1:p.(Arg108Trp)	NC_000020.10:g.398562C>T	VUS	1 lab	32b667b012
X:77258692 ATP7A A>G	X	77258692	77258692	A	G	ATP7A	c.1666A>G	NM_000052.7	NP_000043.4:p.(Ile556Val)	NC_000023.10:g.77258692A>G	VUS	1 lab	e9ef76a69c
16:67203550 HSF4 C>G	16	67203550	67203550	C	G	HSF4	c.1341C>G	NM_001040667.2	NP_001035757.1:p.(Leu447=)	NC_000016.9:g.67203550C>G	(Likely) benign	1 lab	32b73c8d9a
13:32911263 BRCA2 ACT>A	13	32911263	32911267	ACT	A	BRCA2	c.2774_2775del	NM_000059.4	NP_000050.3:p.(Ser925TyrfsTer10)	NC_000013.10:g.32911266_32911267del	(Likely) pathogenic	1 lab	e9f1804693
9:135204703 SETX G>A	9	135204703	135204703	G	A	SETX	c.2282C>T	NM_001351527.1	NP_001338456.1:p.(Ser761Leu)	NC_000009.11:g.135204703G>A	VUS	1 lab	32ba6d4731
7:21940727 DNAH11 G>GACAAGAAAC	7	21940727	21940736	G	GACAAGAAAC	DNAH11	c.13407_13415dup	NM_001277115.1	NP_001264044.1:p.(Gln4470_Thr4472dup)	NC_000007.13:g.21940728_21940736dup	VUS	1 lab	32ba734418
16:2103445 TSC2 C>T	16	2103445	2103445	C	T	TSC2	c.328C>T	NM_000548.3	NP_000539.2:p.(Gln110Ter)	NC_000016.9:g.2103445C>T	(Likely) pathogenic	1 lab	32bb261940
7:117232278 CFTR C>A	7	117232278	117232278	C	A	CFTR	c.2057C>A	NM_000492.3	NP_000483.3:p.(Ser686Tyr)	NC_000007.13:g.117232278C>A	VUS	1 lab	32bbca2a6a
11:63486337 RTN3 C>T	11	63486337	63486337	C	T	RTN3	c.363C>T	NM_001265589.1	NP_001252518.1:p.(His121=)	NC_000011.9:g.63486337C>T	(Likely) benign	1 lab	32bc8e53a4
14:59113087 DACT1 C>T	14	59113087	59113087	C	T	DACT1	c.1746C>T	NM_016651.5	NP_057735.2:p.(Ser582=)	NC_000014.8:g.59113087C>T	(Likely) benign	1 lab	32bd29dd9d
14:51382645 PYGL T>C	14	51382645	51382645	T	C	PYGL	c.1137A>G	NM_002863.4	NP_002854.3:p.(Thr379=)	NC_000014.8:g.51382645T>C	(Likely) benign	1 lab	32bd4b2eec
9:446365 DOCK8 C>T	9	446365	446365	C	T	DOCK8	c.5581-5C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.446365C>T	(Likely) benign	1 lab	32bdc66e70
20:50408260 SALL4 G>A	20	50408260	50408260	G	A	SALL4	c.762C>T	NM_001318031.1	NP_001304960.1:p.(Ala254=)	NC_000020.10:g.50408260G>A	(Likely) benign	1 lab	32be82980d
17:29562734 NF1 C>T	17	29562734	29562734	C	T	NF1	c.3814C>T	NM_000267.3	NP_000258.1:p.(Gln1272Ter)	NC_000017.10:g.29562734C>T	(Likely) pathogenic	1 lab	32beaa551d
10:129902839 MKI67 C>T	10	129902839	129902839	C	T	MKI67	c.7265G>A	NM_002417.4	NP_002408.3:p.(Arg2422Lys)	NC_000010.10:g.129902839C>T	(Likely) benign	1 lab	32c15b46a4
6:152457870 SYNE1 G>A	6	152457870	152457870	G	A	SYNE1	c.25542C>T	NM_182961.3	NP_892006.3:p.(Ser8514=)	NC_000006.11:g.152457870G>A	VUS	1 lab	32c41f8b15
1:155895550 KHDC4 C>T	1	155895550	155895550	C	T	KHDC4	c.766G>A	NM_014949.4	NP_055764.2:p.(Gly256Ser)	NC_000001.10:g.155895550C>T	(Likely) benign	1 lab	32c4a724ab
17:29652858 NF1 ATGGTGATT>A	17	29652858	29652868	ATGGTGATT	A	NF1	c.4859_4866del	NM_001042492.3	NP_001035957.1:p.(Gly1620AlafsTer18)	NC_000017.10:g.29652861_29652868del	(Likely) pathogenic	1 lab	32c4af4321
X:153281963 IRAK1 G>T	X	153281963	153281963	G	T	IRAK1	c.1161C>A	NM_001569.3	NP_001560.2:p.(Thr387=)	NC_000023.10:g.153281963G>T	(Likely) benign	1 lab	32c54283ea
10:8106102 GATA3 G>A	10	8106102	8106102	G	A	GATA3	c.924+1G>A	NM_001002295.1	NP_001002295.1:p.?	NC_000010.10:g.8106102G>A	(Likely) pathogenic	1 lab	32c5de1707
16:2138499 TSC2 C>T	16	2138499	2138499	C	T	TSC2	c.5312C>T	NM_000548.5	NP_000539.2:p.(Pro1771Leu)	NC_000016.9:g.2138499C>T	(Likely) benign	1 lab	e9f52a537c
8:72123430 EYA1 A>G	8	72123430	72123430	A	G	EYA1	c.1659T>C	NM_000503.5	NP_000494.2:p.(Val553=)	NC_000008.10:g.72123430A>G	(Likely) benign	1 lab	32c6a88213
18:29104780 DSG2 G>C	18	29104780	29104780	G	C	DSG2	c.943G>C	NM_001943.5	NP_001934.2:p.(Gly315Arg)	NC_000018.9:g.29104780G>C	VUS	1 lab	e9f725a56e
4:39247045 WDR19 A>G	4	39247045	39247045	A	G	WDR19	c.2702A>G	NM_025132.3	NP_079408.3:p.(Tyr901Cys)	NC_000004.11:g.39247045A>G	(Likely) benign	1 lab	32c79a6b26
3:53835299 CACNA1D C>T	3	53835299	53835299	C	T	CACNA1D	c.5315C>T	NM_000720.3	NP_000711.1:p.(Thr1772Ile)	NC_000003.11:g.53835299C>T	(Likely) benign	1 lab	32c899b7bc
3:148916273 CP G>C	3	148916273	148916273	G	C	CP	c.1594C>G	NM_000096.3	NP_000087.1:p.(Pro532Ala)	NC_000003.11:g.148916273G>C	VUS	1 lab	32c9eab860
15:31341703 TRPM1 A>G	15	31341703	31341703	A	G	TRPM1	c.1498T>C	NM_001252020.1	NP_001238949.1:p.(Leu500=)	NC_000015.9:g.31341703A>G	(Likely) benign	1 lab	32cb393d4d
3:133119001 BFSP2 C>T	3	133119001	133119001	C	T	BFSP2	c.74C>T	NM_003571.3	NP_003562.1:p.(Ala25Val)	NC_000003.11:g.133119001C>T	(Likely) benign	1 lab	32cb6a0f83
1:152277645 FLG A>T	1	152277645	152277645	A	T	FLG	c.9717T>A	NM_002016.1	NP_002007.1:p.(His3239Gln)	NC_000001.10:g.152277645A>T	(Likely) benign	1 lab	32cbc4d147
X:151303496 MAGEA10 G>A	X	151303496	151303496	G	A	MAGEA10	c.597C>T	NM_001011543.2	NP_001011543.2:p.(His199=)	NC_000023.10:g.151303496G>A	(Likely) benign	1 lab	32cc6446a0
X:11783813 MSL3 C>T	X	11783813	11783813	C	T	MSL3	c.1136C>T	NM_078628.1	NP_523352.1:p.(Ala379Val)	NC_000023.10:g.11783813C>T	(Likely) benign	1 lab	32cd3938c4
X:153696439 PLXNA3 C>T	X	153696439	153696439	C	T	PLXNA3	c.3835C>T	NM_017514.4	NP_059984.3:p.(Gln1279Ter)	NC_000023.10:g.153696439C>T	VUS	1 lab	32ce1f0e78
12:65130783 GNS CCT>ACC	12	65130783	65130785	CCT	ACC	GNS	c.1097_1098+1delinsGGT	NM_002076.3	NP_002067.1:p.?	NC_000012.11:g.65130783_65130785delinsACC	(Likely) pathogenic	1 lab	32ce420d8d
1:228528520 OBSCN C>G	1	228528520	228528520	C	G	OBSCN	c.20499C>G	NM_001271223.2	NP_001258152.2:p.(Asn6833Lys)	NC_000001.10:g.228528520C>G	VUS	1 lab	32ce96b0e4
11:73829418 C2CD3 T>C	11	73829418	73829418	T	C	C2CD3	c.1375A>G	NM_001286577.1	NP_001273506.1:p.(Thr459Ala)	NC_000011.9:g.73829418T>C	(Likely) benign	1 lab	32cf41ce68
5:132269927 AFF4 C>G	5	132269927	132269927	C	G	AFF4	c.830G>C	NM_014423.4	NP_055238.1:p.(Ser277Thr)	NC_000005.9:g.132269927C>G	(Likely) benign	1 lab	ea0250fd77
9:139571484 AGPAT2 TGAA>T	9	139571484	139571492	TGAA	T	AGPAT2	c.418_420del	NM_006412.4	NP_006403.2:p.(Phe140del)	NC_000009.11:g.139571490_139571492del	VUS	1 lab	32d33adcf5
12:52408830 TAMALIN G>C	12	52408830	52408830	G	C	TAMALIN	c.1035G>C	NM_181711.3	NP_859062.1:p.(Gly345=)	NC_000012.11:g.52408830G>C	(Likely) benign	1 lab	32d4aeb7d0
2:48026003 MSH6 T>G	2	48026003	48026003	T	G	MSH6	c.881T>G	NM_000179.2	NP_000170.1:p.(Val294Gly)	NC_000002.11:g.48026003T>G	VUS	1 lab	32d5b5f0c6
13:110831650 COL4A1 G>A	13	110831650	110831650	G	A	COL4A1	c.2312C>T	NM_001845.5	NP_001836.3:p.(Ala771Val)	NC_000013.10:g.110831650G>A	(Likely) benign	1 lab	32d674899d
9:99701414 NUTM2G C>T	9	99701414	99701414	C	T	NUTM2G	c.2209C>T	NM_001170741.1	NP_001164212.1:p.(Arg737Trp)	NC_000009.11:g.99701414C>T	(Likely) benign	1 lab	32d90428be
11:47359263 MYBPC3 G>T	11	47359263	47359263	G	T	MYBPC3	c.2391C>A	NM_000256.3	NP_000247.2:p.(Tyr797Ter)	NC_000011.9:g.47359263G>T	(Likely) pathogenic	1 lab	32db3846e7
16:14576581 PARN T>G	16	14576581	14576581	T	G	PARN	c.1584A>C	NM_002582.4	NP_002573.1:p.(Glu528Asp)	NC_000016.9:g.14576581T>G	VUS	1 lab	32dc834c6b
19:38631856 SIPA1L3 C>T	19	38631856	38631856	C	T	SIPA1L3	c.3176C>T	NM_015073.2	NP_055888.1:p.(Ser1059Leu)	NC_000019.9:g.38631856C>T	(Likely) benign	1 lab	32dc945453
5:169509844 DOCK2 G>A	5	169509844	169509844	G	A	DOCK2	c.5475G>A	NM_004946.3	NP_004937.1:p.(Ser1825=)	NC_000005.9:g.169509844G>A	(Likely) benign	1 lab	32dcceaf4e
3:132384704 UBA5 G>A	3	132384704	132384704	G	A	UBA5	c.199G>A	NM_024818.4	NP_079094.1:p.(Asp67Asn)	NC_000003.11:g.132384704G>A	(Likely) benign	1 lab	32dfeab5bd
2:179497418 TTN G>A	2	179497418	179497418	G	A	TTN	c.43315C>T	NM_001267550.1	NP_001254479.1:p.(Arg14439Cys)	NC_000002.11:g.179497418G>A	VUS	1 lab	32e2b2b6f9
14:105416209 AHNAK2 G>A	14	105416209	105416209	G	A	AHNAK2	c.5579C>T	NM_138420.3	NP_612429.2:p.(Pro1860Leu)	NC_000014.8:g.105416209G>A	VUS	1 lab	32f8933031
2:179473998 TTN A>G	2	179473998	179473998	A	G	TTN	c.52039T>C	NM_001267550.1	NP_001254479.1:p.(Tyr17347His)	NC_000002.11:g.179473998A>G	VUS	1 lab	32e4271e0b
9:139907921 ABCA2 G>A	9	139907921	139907921	G	A	ABCA2	c.4632C>T	NM_212533.2	NP_997698.1:p.(Arg1544=)	NC_000009.11:g.139907921G>A	VUS	1 lab	32e53284e4
9:139405180 NOTCH1 C>T	9	139405180	139405180	C	T	NOTCH1	c.2665G>A	NM_017617.5	NP_060087.3:p.(Gly889Ser)	NC_000009.11:g.139405180C>T	VUS	1 lab	32e59d66ba
X:9716680 GPR143 G>A	X	9716680	9716680	G	A	GPR143	c.482C>T	NM_000273.2	NP_000264.2:p.(Ala161Val)	NC_000023.10:g.9716680G>A	(Likely) benign	1 lab	32e5f5b912
6:75890781 COL12A1 G>C	6	75890781	75890781	G	C	COL12A1	c.2038C>G	NM_004370.5	NP_004361.3:p.(Pro680Ala)	NC_000006.11:g.75890781G>C	VUS	1 lab	32e605e172
X:17047744 REPS2 C>T	X	17047744	17047744	C	T	REPS2	c.769C>T	NM_004726.2	NP_004717.2:p.(Arg257Trp)	NC_000023.10:g.17047744C>T	VUS	1 lab	32e7bd5db9
X:153940780 GAB3 C>A	X	153940780	153940780	C	A	GAB3	c.793G>T	NM_001081573.2	NP_001075042.1:p.(Gly265Trp)	NC_000023.10:g.153940780C>A	(Likely) benign	1 lab	32e8628784
7:138603199 KIAA1549 G>A	7	138603199	138603199	G	A	KIAA1549	c.1173C>T	NM_001164665.1	NP_001158137.1:p.(Ser391=)	NC_000007.13:g.138603199G>A	(Likely) benign	1 lab	32e8908774
1:20964596 PINK1 G>A	1	20964596	20964596	G	A	PINK1	c.649G>A	NM_032409.2	NP_115785.1:p.(Ala217Thr)	NC_000001.10:g.20964596G>A	VUS	1 lab	32e9003f5f
5:82816250 VCAN A>G	5	82816250	82816250	A	G	VCAN	c.2125A>G	NM_004385.4	NP_004376.2:p.(Lys709Glu)	NC_000005.9:g.82816250A>G	VUS	1 lab	32e984712b
12:52200419 SCN8A C>T	12	52200419	52200419	C	T	SCN8A	c.5149C>T	NM_014191.3	NP_055006.1:p.(Arg1717Cys)	NC_000012.11:g.52200419C>T	VUS	1 lab	32ea05e7f3
20:5965647 MCM8 G>C	20	5965647	5965647	G	C	MCM8	c.2073+1G>C	NM_001281521.1	NP_001268450.1:p.?	NC_000020.10:g.5965647G>C	(Likely) pathogenic	1 lab	32eb2293f1
3:24169209 THRB A>G	3	24169209	24169209	A	G	THRB	c.925T>C	NM_000461.5	NP_000452.2:p.(Cys309Arg)	NC_000003.11:g.24169209A>G	(Likely) pathogenic	1 lab	ea042781c8
10:55944900 PCDH15 G>A	10	55944900	55944900	G	A	PCDH15				NC_000010.10:g.55944900G>A	(Likely) benign	1 lab	33a4239b91
X:153296073 MECP2 G>A	X	153296073	153296073	G	A	MECP2	c.1206C>T	NM_004992.3	NP_004983.1:p.(Pro402=)	NC_000023.10:g.153296073G>A	(Likely) benign	1 lab	32ec65b3b9
19:19656126 CILP2 C>A	19	19656126	19656126	C	A	CILP2	c.2772C>A	NM_153221.2	NP_694953.2:p.(Gly924=)	NC_000019.9:g.19656126C>A	(Likely) benign	1 lab	32ece9bd04
X:41007751 USP9X A>C	X	41007751	41007751	A	C	USP9X	c.1549A>C	NM_001039591.3	NP_001034680.2:p.(Ser517Arg)	NC_000023.10:g.41007751A>C	VUS	1 lab	32ee01e852
2:179659709 TTN G>T	2	179659709	179659709	G	T	TTN	c.1185C>A	NM_001267550.1	NP_001254479.1:p.(Ala395=)	NC_000002.11:g.179659709G>T	(Likely) benign	1 lab	32ee069e06
X:118586986 SLC25A43 C>T	X	118586986	118586986	C	T	SLC25A43	c.984C>T	NM_145305.2	NP_660348.2:p.(Phe328=)	NC_000023.10:g.118586986C>T	(Likely) benign	1 lab	32eebbc07d
22:41973417 PMM1 C>T	22	41973417	41973417	C	T	PMM1	c.694G>A	NM_002676.3	NP_002667.2:p.(Asp232Asn)	NC_000022.10:g.41973417C>T	VUS	1 lab	32f1257560
2:15448403 NBAS A>ATAG	2	15448403	15448408	A	ATAG	NBAS	c.4731_4733dup	NM_015909.3	NP_056993.2:p.(Tyr1578dup)	NC_000002.11:g.15448406_15448408dup	(Likely) pathogenic	1 lab	32f136b54a
6:88227966 RARS2 CAA>C	6	88227966	88227970	CAA	C	RARS2	c.1430_1431del	NM_020320.5	NP_064716.2:p.(Phe477TrpfsTer7)	NC_000006.11:g.88227969_88227970del	VUS	1 lab	32f29fba27
1:986160 AGRN C>T	1	986160	986160	C	T	AGRN	c.5196C>T	NM_001305275.2	NP_001292204.1:p.(Asn1732=)	NC_000001.10:g.986160C>T	(Likely) benign	1 lab	32f2b61c28
11:6644686 DCHS1 G>C	11	6644686	6644686	G	C	DCHS1				NC_000011.9:g.6644686G>C	(Likely) benign	1 lab	32f673f2e7
6:106968958 CRYBG1 C>T	6	106968958	106968958	C	T	CRYBG1	c.2651C>T	NM_001624.3	NP_001615.2:p.(Pro884Leu)	NC_000006.11:g.106968958C>T	VUS	1 lab	32f6d43de8
3:47162996 SETD2 T>A	3	47162996	47162996	T	A	SETD2	c.3130A>T	NM_014159.6	NP_054878.5:p.(Ser1044Cys)	NC_000003.11:g.47162996T>A	VUS	1 lab	32f7903c4d
3:43602807 ANO10 C>T	3	43602807	43602807	C	T	ANO10	c.1381G>A	NM_001204831.2	NP_001191760.1:p.(Val461Met)	NC_000003.11:g.43602807C>T	(Likely) benign	1 lab	32f7f1c6c5
X:41201832 DDX3X A>G	X	41201832	41201832	A	G	DDX3X	c.369A>G	NM_001356.4	NP_001347.3:p.(Gly123=)	NC_000023.10:g.41201832A>G	(Likely) benign	1 lab	32f9189d05
7:128484066 FLNC G>C	7	128484066	128484066	G	C	FLNC	c.2938G>C	NM_001458.5	NP_001449.3:p.(Val980Leu)	NC_000007.13:g.128484066G>C	VUS	1 lab	ea08475f1e
18:28650816 DSC2 C>G	18	28650816	28650816	C	G	DSC2	c.2126G>C	NM_004949.5	NP_004940.1:p.(Cys709Ser)	NC_000018.9:g.28650816C>G	VUS	1 lab	ea11bd5c14
11:57569667 CTNND1 C>T	11	57569667	57569667	C	T	CTNND1	c.1419C>T	NM_001085458.1	NP_001078927.1:p.(Thr473=)	NC_000011.9:g.57569667C>T	(Likely) benign	1 lab	32fc806f94
X:114425139 RBMXL3 C>T	X	114425139	114425139	C	T	RBMXL3	c.1135C>T	NM_001145346.1	NP_001138818.1:p.(Arg379Trp)	NC_000023.10:g.114425139C>T	(Likely) benign	1 lab	32fd8f511a
19:49100061 SULT2B1 G>A	19	49100061	49100061	G	A	SULT2B1	c.666G>A	NM_004605.2	NP_004596.2:p.(Leu222=)	NC_000019.9:g.49100061G>A	(Likely) benign	1 lab	32fdcfb9f8
1:144881444 PDE4DIP T>C	1	144881444	144881444	T	C	PDE4DIP	c.3752A>G	NM_014644.5	NP_055459.5:p.(Tyr1251Cys)	NC_000001.10:g.144881444T>C	VUS	1 lab	32fe16d9e2
X:70613189 TAF1 G>A	X	70613189	70613189	G	A	TAF1	c.3150G>A	NM_001286074.1	NP_001273003.1:p.(Val1050=)	NC_000023.10:g.70613189G>A	(Likely) benign	1 lab	32ff353150
11:72028191 CLPB T>G	11	72028191	72028191	T	G	CLPB	c.1037A>C	NM_030813.6	NP_110440.1:p.(His346Pro)	NC_000011.9:g.72028191T>G	VUS	1 lab	2fe6c2631b
11:6589961 DNHD1 T>C	11	6589961	6589961	T	C	DNHD1	c.12728T>C	NM_144666.2	NP_653267.2:p.(Ile4243Thr)	NC_000011.9:g.6589961T>C	VUS	1 lab	32ffc26344
11:1270235 MUC5B C>G	11	1270235	1270235	C	G	MUC5B	c.12125C>G	NM_002458.2	NP_002449.2:p.(Thr4042Arg)	NC_000011.9:g.1270235C>G	VUS	1 lab	32ffc698f6
5:176562133 NSD1 G>T	5	176562133	176562133	G	T	NSD1	c.29G>T	NM_022455.4	NP_071900.2:p.(Arg10Ile)	NC_000005.9:g.176562133G>T	VUS	1 lab	330045bdfc
11:124743284 ROBO3 C>T	11	124743284	124743284	C	T	ROBO3	c.1615C>T	NM_022370.3	NP_071765.2:p.(Arg539Trp)	NC_000011.9:g.124743284C>T	(Likely) benign	1 lab	3301316767
16:88500569 ZNF469 G>A	16	88500569	88500569	G	A	ZNF469				NC_000016.9:g.88500569G>A	VUS	1 lab	3301e8d01a
17:59543297 TBX4 A>T	17	59543297	59543297	A	T	TBX4	c.399A>T	NM_001321120.2	NP_001308049.1:p.(Lys133Asn)	NC_000017.10:g.59543297A>T	VUS	1 lab	3301f0e856
9:34371466 MYORG C>T	9	34371466	34371466	C	T	MYORG	c.1476G>A	NM_020702.5	NP_065753.2:p.(Glu492=)	NC_000009.11:g.34371466C>T	(Likely) benign	1 lab	330221c432
20:4680026 PRNP G>A	20	4680026	4680026	G	A	PRNP	c.160G>A	NM_000311.4	NP_000302.1:p.(Gly54Ser)	NC_000020.10:g.4680026G>A	VUS	1 lab	3302f11e63
19:33167641 RGS9BP G>A	19	33167641	33167641	G	A	RGS9BP	c.472G>A	NM_207391.2	NP_997274.2:p.(Gly158Ser)	NC_000019.9:g.33167641G>A	(Likely) benign	1 lab	33035366d6
8:77690669 ZFHX4 G>A	8	77690669	77690669	G	A	ZFHX4	c.3319G>A	NM_024721.4	NP_078997.4:p.(Glu1107Lys)	NC_000008.10:g.77690669G>A	VUS	1 lab	3303be182c
11:1269151 MUC5B G>A	11	1269151	1269151	G	A	MUC5B	c.11041G>A	NM_002458.2	NP_002449.2:p.(Ala3681Thr)	NC_000011.9:g.1269151G>A	(Likely) benign	1 lab	3306a322ad
X:41333441 NYX C>G	X	41333441	41333441	C	G	NYX	c.735C>G	NM_022567.2	NP_072089.1:p.(Leu245=)	NC_000023.10:g.41333441C>G	(Likely) benign	1 lab	330732c8d3
5:176719006 NSD1 C>T	5	176719006	176719006	C	T	NSD1	c.6310C>T	NM_022455.4	NP_071900.2:p.(Gln2104Ter)	NC_000005.9:g.176719006C>T	(Likely) pathogenic	1 lab	331138e15f
10:112590879 RBM20 C>T	10	112590879	112590879	C	T	RBM20	c.3512C>T	NM_001134363.3	NP_001127835.2:p.(Thr1171Met)	NC_000010.10:g.112590879C>T	VUS	1 lab	ea19f47411
5:150923275 FAT2 A>G	5	150923275	150923275	A	G	FAT2	c.7413T>C	NM_001447.2	NP_001438.1:p.(Thr2471=)	NC_000005.9:g.150923275A>G	(Likely) benign	1 lab	3311b23add
12:8671683 CLEC4D C>T	12	8671683	8671683	C	T	CLEC4D	c.311C>T	NM_080387.5	NP_525126.2:p.(Thr104Met)	NC_000012.11:g.8671683C>T	(Likely) benign	1 lab	3311d1b35e
16:21721325 OTOA C>T	16	21721325	21721325	C	T	OTOA	c.1221C>T	NM_144672.4	NP_653273.3:p.(Pro407=)	NC_000016.9:g.21721325C>T	(Likely) benign	1 lab	3311e18270
1:210273668 SYT14 A>C	1	210273668	210273668	A	C	SYT14	c.912A>C	NM_001256006.1	NP_001242935.1:p.(Ala304=)	NC_000001.10:g.210273668A>C	(Likely) benign	1 lab	3313964dfa
2:102781249 IL1R1 G>A	2	102781249	102781249	G	A	IL1R1	c.77G>A	NM_001320980.1	NP_001307909.1:p.(Arg26His)	NC_000002.11:g.102781249G>A	(Likely) benign	1 lab	3314f42b97
X:43626811 MAOB C>T	X	43626811	43626811	C	T	MAOB	c.1465G>A	NM_000898.4	NP_000889.3:p.(Val489Met)	NC_000023.10:g.43626811C>T	VUS	1 lab	331574d06d
15:41372087 INO80 T>C	15	41372087	41372087	T	C	INO80	c.943A>G	NM_017553.3	NP_060023.1:p.(Met315Val)	NC_000015.9:g.41372087T>C	VUS	1 lab	331596e433
X:52825562 SPANXN5 A>G	X	52825562	52825562	A	G	SPANXN5	c.185T>C	NM_001009616.3	NP_001009616.1:p.(Ile62Thr)	NC_000023.10:g.52825562A>G	(Likely) benign	1 lab	331730e481
11:126134973 SRPRA G>C	11	126134973	126134973	G	C	SRPRA	c.1322C>G	NM_001177842.1	NP_001171313.1:p.(Thr441Ser)	NC_000011.9:g.126134973G>C	VUS	1 lab	3318420989
17:14110362 COX10 C>T	17	14110362	14110362	C	T	COX10	c.1164C>T	NM_001303.3	NP_001294.2:p.(Ile388=)	NC_000017.10:g.14110362C>T	(Likely) benign	1 lab	33190ac52d
3:33118596 GLB1 C>T	3	33118596	33118596	C	T	GLB1	c.209G>A	NM_001317040.1	NP_001303969.1:p.(Arg70Gln)	NC_000003.11:g.33118596C>T	VUS	1 lab	331a38de0d
22:50893746 SBF1 G>A	22	50893746	50893746	G	A	SBF1	c.4461C>T	NM_002972.3	NP_002963.2:p.(Gly1487=)	NC_000022.10:g.50893746G>A	(Likely) benign	1 lab	331ad5c2d5
7:42063198 GLI3 C>T	7	42063198	42063198	C	T	GLI3	c.1366G>A	NM_000168.6	NP_000159.3:p.(Glu456Lys)	NC_000007.13:g.42063198C>T	(Likely) benign	1 lab	ea1bb6be1b
15:66824707 ZWILCH C>G	15	66824707	66824707	C	G	ZWILCH	c.936C>G	NM_001287821.1	NP_001274750.1:p.(Asp312Glu)	NC_000015.9:g.66824707C>G	VUS	1 lab	331cfd09ea
1:237753202 RYR2 T>C	1	237753202	237753202	T	C	RYR2	c.3708T>C	NM_001035.2	NP_001026.2:p.(Tyr1236=)	NC_000001.10:g.237753202T>C	(Likely) benign	1 lab	331d079a19
20:34054843 CEP250 G>A	20	34054843	34054843	G	A	CEP250	c.545G>A	NM_007186.5	NP_009117.2:p.(Arg182Gln)	NC_000020.10:g.34054843G>A	VUS	1 lab	331df3fea2
5:77423968 AP3B1 C>G	5	77423968	77423968	C	G	AP3B1	c.1854G>C	NM_003664.5	NP_003655.3:p.(Gln618His)	NC_000005.9:g.77423968C>G	VUS	1 lab	ea1e2d4314
X:106186381 MORC4 C>A	X	106186381	106186381	C	A	MORC4	c.1740G>T	NM_024657.5	NP_078933.3:p.(Gln580His)	NC_000023.10:g.106186381C>A	(Likely) benign	1 lab	3320d0d07e
X:153069882 PDZD4 C>T	X	153069882	153069882	C	T	PDZD4	c.948G>A	NM_001303513.1	NP_001290442.1:p.(Lys316=)	NC_000023.10:g.153069882C>T	(Likely) benign	1 lab	3321c7f59b
1:228362991 IBA57 G>A	1	228362991	228362991	G	A	IBA57	c.848G>A	NM_001010867.3	NP_001010867.1:p.(Arg283Gln)	NC_000001.10:g.228362991G>A	VUS	1 lab	3322d5f515
16:89347172 ANKRD11 C>T	16	89347172	89347172	C	T	ANKRD11	c.5778G>A	NM_001256182.1	NP_001243111.1:p.(Pro1926=)	NC_000016.9:g.89347172C>T	(Likely) benign	1 lab	33231e3899
17:78081611 GAA C>T	17	78081611	78081611	C	T	GAA	c.871C>T	NM_000152.3	NP_000143.2:p.(Leu291Phe)	NC_000017.10:g.78081611C>T	(Likely) pathogenic	1 lab	3325d006f5
1:94507069 ABCA4 TA>T	1	94507069	94507080	TA	T	ABCA4	c.3329-112del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94507080del	(Likely) benign	1 lab	3325e2c95d
2:27669118 IFT172 C>G	2	27669118	27669118	C	G	IFT172	c.4755+9G>C	NM_015662.2	NP_056477.1:p.?	NC_000002.11:g.27669118C>G	(Likely) benign	1 lab	3327f75fdc
14:105695164 BRF1 G>C	14	105695164	105695164	G	C	BRF1	c.781C>G	NM_001519.4	NP_001510.2:p.(Arg261Gly)	NC_000014.8:g.105695164G>C	VUS	1 lab	332979003c
5:94814011 SKIC3 C>A	5	94814011	94814011	C	A	SKIC3	c.4348G>T	NM_014639.3	NP_055454.1:p.(Ala1450Ser)	NC_000005.9:g.94814011C>A	VUS	1 lab	3329a40522
11:110135585 RDX A>C	11	110135585	110135585	A	C	RDX	c.111T>G	NM_002906.3	NP_002897.1:p.(Val37=)	NC_000011.9:g.110135585A>C	(Likely) benign	1 lab	332b10b0e5
1:237780570 RYR2 T>C	1	237780570	237780570	T	C	RYR2	c.5716-16T>C	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237780570T>C	(Likely) benign	1 lab	332b4f574c
5:147481442 SPINK5 C>T	5	147481442	147481442	C	T	SPINK5	c.1401C>T	NM_001127698.1	NP_001121170.1:p.(Gly467=)	NC_000005.9:g.147481442C>T	VUS	1 lab	332c63c7f4
X:134424995 ZNF75D G>C	X	134424995	134424995	G	C	ZNF75D	c.763C>G	NM_007131.4	NP_009062.2:p.(Leu255Val)	NC_000023.10:g.134424995G>C	(Likely) benign	1 lab	332c7b16d5
3:172835290 SPATA16 C>T	3	172835290	172835290	C	T	SPATA16	c.232G>A	NM_031955.6	NP_114161.3:p.(Glu78Lys)	NC_000003.11:g.172835290C>T	(Likely) benign	1 lab	ea2254751d
22:50966963 TYMP T>C	22	50966963	50966963	T	C	TYMP	c.494A>G	NM_001113756.2	NP_001107228.1:p.(Asn165Ser)	NC_000022.10:g.50966963T>C	(Likely) benign	1 lab	332cd2db26
16:17232272 XYLT1 G>A	16	17232272	17232272	G	A	XYLT1	c.1704C>T	NM_022166.3	NP_071449.1:p.(Ile568=)	NC_000016.9:g.17232272G>A	(Likely) benign	1 lab	332d275b2d
6:112450176 LAMA4 A>G	6	112450176	112450176	A	G	LAMA4	c.4235T>C	NM_001105206.3	NP_001098676.2:p.(Leu1412Pro)	NC_000006.11:g.112450176A>G	VUS	1 lab	ea25a35413
19:17895702 FCHO1 A>G	19	17895702	17895702	A	G	FCHO1	c.2395A>G	NM_001161357.1	NP_001154829.1:p.(Thr799Ala)	NC_000019.9:g.17895702A>G	VUS	1 lab	3330b1e6a0
X:19031994 ADGRG2 T>C	X	19031994	19031994	T	C	ADGRG2	c.909A>G	NM_001079858.2	NP_001073327.1:p.(Ser303=)	NC_000023.10:g.19031994T>C	(Likely) benign	1 lab	3331154d1f
9:6610226 GLDC TC>T	9	6610226	6610230	TC	T	GLDC	c.600del	NM_000170.3	NP_000161.2:p.(Thr201LeufsTer30)	NC_000009.11:g.6610230del	(Likely) pathogenic	1 lab	3332c4634d
12:2694632 CACNA1C G>A	12	2694632	2694632	G	A	CACNA1C	c.2430G>A	NM_199460.3	NP_955630.3:p.(Thr810=)	NC_000012.11:g.2694632G>A	(Likely) benign	1 lab	3334b6ea7e
8:90992981 NBN G>C	8	90992981	90992981	G	C	NBN	c.215C>G	NM_001024688.2	NP_001019859.1:p.(Ser72Ter)	NC_000008.10:g.90992981G>C	(Likely) pathogenic	1 lab	3334fa8292
9:140878640 CACNA1B A>G	9	140878640	140878640	A	G	CACNA1B	c.1707A>G	NM_000718.3	NP_000709.1:p.(Gly569=)	NC_000009.11:g.140878640A>G	(Likely) benign	1 lab	33395131f3
14:73664750 PSEN1 G>C	14	73664750	73664750	G	C	PSEN1	c.781G>C	NM_000021.3	NP_000012.1:p.(Val261Leu)	NC_000014.8:g.73664750G>C	(Likely) pathogenic	1 lab	33399d5fce
1:27089761 ARID1A A>G	1	27089761	27089761	A	G	ARID1A	c.2717A>G	NM_006015.6	NP_006006.3:p.(Asn906Ser)	NC_000001.10:g.27089761A>G	VUS	1 lab	ea271ed867
16:84193281 DNAAF1 G>A	16	84193281	84193281	G	A	DNAAF1	c.743G>A	NM_178452.5	NP_848547.4:p.(Arg248His)	NC_000016.9:g.84193281G>A	(Likely) benign	1 lab	333c29474b
22:38168703 TRIOBP G>A	22	38168703	38168703	G	A	TRIOBP	c.7032G>A	NM_001039141.2	NP_001034230.1:p.(Glu2344=)	NC_000022.10:g.38168703G>A	(Likely) benign	1 lab	333d84b3c0
1:39790337 MACF1 C>T	1	39790337	39790337	C	T	MACF1	c.4424C>T	NM_012090.5	NP_036222.3:p.(Thr1475Ile)	NC_000001.10:g.39790337C>T	(Likely) benign	1 lab	333d97a29e
3:12544951 TSEN2 GGA>G	3	12544951	12544959	GGA	G	TSEN2	c.506_507del	NM_025265.4	NP_079541.1:p.(Arg169ThrfsTer16)	NC_000003.11:g.12544958_12544959del	(Likely) pathogenic	1 lab	333ee4ce3e
2:86088339 ST3GAL5 TC>T	2	86088339	86088340	TC	T	ST3GAL5	c.282del	NM_003896.4	NP_003887.3:p.(Met94IlefsTer12)	NC_000002.11:g.86088340del	(Likely) pathogenic	1 lab	333f6d2a8c
X:119004722 RNF113A A>G	X	119004722	119004722	A	G	RNF113A	c.855T>C	NM_006978.2	NP_008909.1:p.(Cys285=)	NC_000023.10:g.119004722A>G	(Likely) benign	1 lab	33403c368c
X:135754252 ARHGEF6 C>T	X	135754252	135754252	C	T	ARHGEF6	c.2062G>A	NM_004840.2	NP_004831.1:p.(Val688Ile)	NC_000023.10:g.135754252C>T	(Likely) benign	1 lab	334059a490
2:55863511 PNPT1 C>T	2	55863511	55863511	C	T	PNPT1	c.2213G>A	NM_033109.4	NP_149100.2:p.(Arg738His)	NC_000002.11:g.55863511C>T	VUS	1 lab	3341115f81
1:114454796 DCLRE1B T>C	1	114454796	114454796	T	C	DCLRE1B	c.1582T>C	NM_022836.4	NP_073747.1:p.(Tyr528His)	NC_000001.10:g.114454796T>C	(Likely) benign	1 lab	3343581468
8:144992352 PLEC G>A	8	144992352	144992352	G	A	PLEC	c.12048C>T	NM_201380.3	NP_958782.1:p.(Asp4016=)	NC_000008.10:g.144992352G>A	(Likely) benign	1 lab	33440e9895
5:40958222 C7 G>A	5	40958222	40958222	G	A	C7	c.1348G>A	NM_000587.2	NP_000578.2:p.(Asp450Asn)	NC_000005.9:g.40958222G>A	(Likely) benign	1 lab	3344402547
2:74763887 LOXL3 G>A	2	74763887	74763887	G	A	LOXL3	c.861C>T	NM_032603.4	NP_115992.1:p.(Tyr287=)	NC_000002.11:g.74763887G>A	(Likely) benign	1 lab	3345887c25
20:56138114 PCK1 C>T	20	56138114	56138114	C	T	PCK1	c.641C>T	NM_002591.3	NP_002582.3:p.(Pro214Leu)	NC_000020.10:g.56138114C>T	VUS	1 lab	3345b12314
16:50815317 CYLD CTT>C	16	50815317	50815320	CTT	C	CYLD	c.1681_1682del	NM_001378743.1	NP_001365672.1:p.(Leu561SerfsTer8)	NC_000016.9:g.50815319_50815320del	(Likely) pathogenic	1 lab	3348236b88
13:41381553 SLC25A15 A>G	13	41381553	41381553	A	G	SLC25A15	c.576A>G	NM_014252.3	NP_055067.1:p.(Glu192=)	NC_000013.10:g.41381553A>G	(Likely) benign	1 lab	33497048ae
9:135796833 TSC1 T>C	9	135796833	135796833	T	C	TSC1	c.664-10A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135796833T>C	(Likely) pathogenic	1 lab	334ab3db55
2:27604482 PPM1G T>G	2	27604482	27604482	T	G	PPM1G	c.1625A>C	NM_177983.3	NP_817092.1:p.(Lys542Thr)	NC_000002.11:g.27604482T>G	(Likely) benign	1 lab	334b9f780e
2:179463988 TTN G>A	2	179463988	179463988	G	A	TTN	c.56532C>T	NM_001267550.1	NP_001254479.1:p.(Tyr18844=)	NC_000002.11:g.179463988G>A	(Likely) benign	1 lab	334bf3bd52
6:117243252 RFX6 A>T	6	117243252	117243252	A	T	RFX6	c.1375A>T	NM_173560.3	NP_775831.2:p.(Asn459Tyr)	NC_000006.11:g.117243252A>T	VUS	1 lab	334e7a6df0
X:55041216 ALAS2 A>G	X	55041216	55041216	A	G	ALAS2	c.1362T>C	NM_001037968.3	NP_001033057.1:p.(Pro454=)	NC_000023.10:g.55041216A>G	(Likely) benign	1 lab	334f53067a
10:26463266 MYO3A G>A	10	26463266	26463266	G	A	MYO3A	c.4073G>A	NM_017433.5	NP_059129.3:p.(Arg1358Gln)	NC_000010.10:g.26463266G>A	(Likely) benign	1 lab	33513ed267
5:118835033 HSD17B4 C>T	5	118835033	118835033	C	T	HSD17B4	c.1069C>T	NM_001199291.2	NP_001186220.1:p.(Leu357Phe)	NC_000005.9:g.118835033C>T	(Likely) benign	1 lab	3353451bd9
5:94848293 SKIC3 C>T	5	94848293	94848293	C	T	SKIC3	c.2808G>A	NM_014639.3	NP_055454.1:p.(Trp936Ter)	NC_000005.9:g.94848293C>T	(Likely) pathogenic	1 lab	3353788681
7:151878756 KMT2C T>G	7	151878756	151878756	T	G	KMT2C	c.6189A>C	NM_170606.2	NP_733751.2:p.(Ala2063=)	NC_000007.13:g.151878756T>G	(Likely) benign	1 lab	33540a4881
4:170322949 NEK1 C>T	4	170322949	170322949	C	T	NEK1	c.3437G>A	NM_001199397.1	NP_001186326.1:p.(Arg1146Lys)	NC_000004.11:g.170322949C>T	VUS	1 lab	33545b1527
16:80574749 DYNLRB2 C>T	16	80574749	80574749	C	T	DYNLRB2	c.88C>T	NM_001305017.1	NP_001291946.1:p.(Gln30Ter)	NC_000016.9:g.80574749C>T	(Likely) benign	1 lab	335702d972
X:110555955 DCX G>T	X	110555955	110555955	G	T	DCX	c.941C>A	NM_178153.2	NP_835366.1:p.(Thr314Asn)	NC_000023.10:g.110555955G>T	VUS	1 lab	335a27946b
22:41513327 EP300 A>G	22	41513327	41513327	A	G	EP300	c.231A>G	NM_001429.3	NP_001420.2:p.(Lys77=)	NC_000022.10:g.41513327A>G	(Likely) benign	1 lab	335c85da14
17:42953377 EFTUD2 AG>A	17	42953377	42953379	AG	A	EFTUD2	c.793del	NM_004247.4	NP_004238.3:p.(Leu265TrpfsTer3)	NC_000017.10:g.42953379del	(Likely) pathogenic	1 lab	335ca3a3d1
17:78064180 CCDC40 A>G	17	78064180	78064180	A	G	CCDC40	c.3075A>G	NM_001243342.1	NP_001230271.1:p.(Thr1025=)	NC_000017.10:g.78064180A>G	(Likely) benign	1 lab	335cf23938
6:65301715 EYS G>A	6	65301715	65301715	G	A	EYS	c.4045C>T	NM_001142800.1	NP_001136272.1:p.(Arg1349Ter)	NC_000006.11:g.65301715G>A	(Likely) pathogenic	1 lab	335d08e53e
19:41916682 BCKDHA C>T	19	41916682	41916682	C	T	BCKDHA	c.249C>T	NM_000709.3	NP_000700.1:p.(Asp83=)	NC_000019.9:g.41916682C>T	(Likely) benign	1 lab	335e14f6dc
7:21934389 DNAH11 G>A	7	21934389	21934389	G	A	DNAH11				NC_000007.13:g.21934389G>A	(Likely) benign	1 lab	3361288e9a
2:179308073 PRKRA A>G	2	179308073	179308073	A	G	PRKRA	c.96T>C	NM_001316362.1	NP_001303291.1:p.(Tyr32=)	NC_000002.11:g.179308073A>G	(Likely) benign	1 lab	3361a7eb96
3:128621441 ACAD9 G>A	3	128621441	128621441	G	A	ACAD9	c.928G>A	NM_014049.4	NP_054768.2:p.(Val310Ile)	NC_000003.11:g.128621441G>A	(Likely) benign	1 lab	3363fd38af
16:56530894 BBS2 C>CGCT	16	56530894	56530896	C	CGCT	BBS2	c.1894_1895insAGC	NM_031885.3	NP_114091.3:p.(Ala631_Arg632insGln)	NC_000016.9:g.56530895_56530896insCTG	VUS	1 lab	33658c6ef1
14:92530765 ATXN3 G>T	14	92530765	92530765	G	T	ATXN3	c.992-7C>A	NM_004993.5	NP_004984.2:p.?	NC_000014.8:g.92530765G>T	(Likely) benign	1 lab	33663ac589
2:129026138 HS6ST1 G>C	2	129026138	129026138	G	C	HS6ST1	c.834C>G	NM_004807.2	NP_004798.3:p.(Leu278=)	NC_000002.11:g.129026138G>C	(Likely) benign	1 lab	336903307d
9:117241010 WHRN T>C	9	117241010	117241010	T	C	WHRN	c.660A>G	NM_015404.3	NP_056219.3:p.(Ser220=)	NC_000009.11:g.117241010T>C	(Likely) benign	1 lab	336922b2b8
17:36486026 GPR179 G>A	17	36486026	36486026	G	A	GPR179	c.3426C>T	NM_001004334.3	NP_001004334.3:p.(Ala1142=)	NC_000017.10:g.36486026G>A	(Likely) benign	1 lab	33695e68c4
9:103046688 INVS C>T	9	103046688	103046688	C	T	INVS	c.1583C>T	NM_001318381.1	NP_001305310.1:p.(Pro528Leu)	NC_000009.11:g.103046688C>T	VUS	1 lab	33697ad365
22:28385938 TTC28 C>T	22	28385938	28385938	C	T	TTC28	c.5635G>A	NM_001145418.1	NP_001138890.1:p.(Ala1879Thr)	NC_000022.10:g.28385938C>T	VUS	1 lab	336b800ac2
17:60598178 TLK2 C>T	17	60598178	60598178	C	T	TLK2	c.126C>T	NM_001284333.1	NP_001271262.1:p.(Val42=)	NC_000017.10:g.60598178C>T	(Likely) benign	1 lab	336c78c6e0
7:103234985 RELN CT>C	7	103234985	103234996	CT	C	RELN	c.3540-47del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103234996del	(Likely) benign	1 lab	336d750465
15:43018524 CDAN1 G>A	15	43018524	43018524	G	A	CDAN1	c.3188C>T	NM_138477.4	NP_612486.2:p.(Thr1063Met)	NC_000015.9:g.43018524G>A	(Likely) benign	1 lab	33705dc3f3
19:46834528 HIF3A C>T	19	46834528	46834528	C	T	HIF3A	c.1822C>T	NM_152794.3	NP_690007.1:p.(Leu608=)	NC_000019.9:g.46834528C>T	(Likely) benign	1 lab	3371ec78a4
6:152719821 SYNE1 G>C	6	152719821	152719821	G	C	SYNE1	c.7283C>G	NM_182961.3	NP_892006.3:p.(Ala2428Gly)	NC_000006.11:g.152719821G>C	(Likely) benign	1 lab	3372c7eb6a
2:158622643 ACVR1 G>T	2	158622643	158622643	G	T	ACVR1	c.856C>A	NM_001105.4	NP_001096.1:p.(His286Asn)	NC_000002.11:g.158622643G>T	VUS	1 lab	3372e7ab2f
16:15045629 NPIPA1 C>A	16	15045629	15045629	C	A	NPIPA1	c.800C>A	NM_006985.3	NP_008916.2:p.(Ser267Tyr)	NC_000016.9:g.15045629C>A	(Likely) benign	1 lab	3372ed9753
17:29576001 NF1 G>A	17	29576001	29576001	G	A	NF1	c.3975-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576001G>A	(Likely) pathogenic	1 lab	337384ac92
20:57466866 GNAS C>T	20	57466866	57466866	C	T	GNAS	c.85C>T	NM_001077488.3	NP_001070956.1:p.(Gln29Ter)	NC_000020.10:g.57466866C>T	(Likely) pathogenic	1 lab	33758aba0b
21:47754510 PCNT A>G	21	47754510	47754510	A	G	PCNT	c.467A>G	NM_006031.5	NP_006022.3:p.(His156Arg)	NC_000021.8:g.47754510A>G	(Likely) benign	1 lab	3379290326
1:196973973 CFHR5 G>A	1	196973973	196973973	G	A	CFHR5	c.1513G>A	NM_030787.3	NP_110414.1:p.(Asp505Asn)	NC_000001.10:g.196973973G>A	(Likely) benign	1 lab	3379550f3b
X:49066833 CACNA1F A>G	X	49066833	49066833	A	G	CACNA1F	c.4549T>C	NM_005183.3	NP_005174.2:p.(Ser1517Pro)	NC_000023.10:g.49066833A>G	(Likely) benign	1 lab	3379e5fe3b
7:1538413 INTS1 C>T	7	1538413	1538413	C	T	INTS1	c.1213G>A	NM_001080453.3	NP_001073922.2:p.(Val405Ile)	NC_000007.13:g.1538413C>T	VUS	1 lab	337a940065
10:73104049 SLC29A3 G>A	10	73104049	73104049	G	A	SLC29A3	c.149+1G>A	NM_001363518.1	NP_001350447.1:p.?	NC_000010.10:g.73104049G>A	(Likely) pathogenic	1 lab	337b10f9d2
1:46658114 POMGNT1 G>A	1	46658114	46658114	G	A	POMGNT1	c.1285-6C>T	NM_001243766.1	NP_001230695.1:p.?	NC_000001.10:g.46658114G>A	(Likely) benign	1 lab	337b6f091d
10:69934014 MYPN G>A	10	69934014	69934014	G	A	MYPN	c.2165G>A	NM_032578.3	NP_115967.2:p.(Arg722Gln)	NC_000010.10:g.69934014G>A	VUS	1 lab	337ca2bec5
6:26468179 BTN2A1 A>C	6	26468179	26468179	A	C	BTN2A1	c.986A>C	NM_007049.5	NP_008980.1:p.(Asp329Ala)	NC_000006.11:g.26468179A>C	VUS	1 lab	337d3adee0
10:91099120 IFIT3 G>T	10	91099120	91099120	G	T	IFIT3	c.552G>T	NM_001289758.1	NP_001276687.1:p.(Lys184Asn)	NC_000010.10:g.91099120G>T	VUS	1 lab	3380bac43c
3:194338402 TMEM44 C>T	3	194338402	194338402	C	T	TMEM44	c.716G>A	NM_001166305.1	NP_001159777.1:p.(Arg239Gln)	NC_000003.11:g.194338402C>T	(Likely) benign	1 lab	3381bfeac4
21:47635630 LSS C>T	21	47635630	47635630	C	T	LSS	c.861G>A	NM_002340.6	NP_002331.3:p.(Thr287=)	NC_000021.8:g.47635630C>T	(Likely) benign	1 lab	33833908a8
13:103393368 LRTM3 C>T	13	103393368	103393368	C	T	LRTM3	c.9679G>A	NM_001146197.2	NP_001139669.1:p.(Val3227Ile)	NC_000013.10:g.103393368C>T	VUS	1 lab	3386fa4a76
1:114454379 DCLRE1B C>T	1	114454379	114454379	C	T	DCLRE1B	c.1165C>T	NM_022836.4	NP_073747.1:p.(Pro389Ser)	NC_000001.10:g.114454379C>T	(Likely) benign	1 lab	3388c0d8e8
8:133182678 KCNQ3 G>A	8	133182678	133182678	G	A	KCNQ3	c.1141-3C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133182678G>A	(Likely) benign	1 lab	ea352377f1
X:49066825 CACNA1F C>A	X	49066825	49066825	C	A	CACNA1F	c.4557G>T	NM_005183.3	NP_005174.2:p.(Gly1519=)	NC_000023.10:g.49066825C>A	VUS	1 lab	338b1130b2
16:88907490 GALNS T>C	16	88907490	88907490	T	C	GALNS	c.332A>G	NM_000512.4	NP_000503.1:p.(Gln111Arg)	NC_000016.9:g.88907490T>C	(Likely) pathogenic	1 lab	338c357b9e
2:152421618 NEB C>T	2	152421618	152421618	C	T	NEB	c.18411G>A	NM_001271208.1	NP_001258137.1:p.(Thr6137=)	NC_000002.11:g.152421618C>T	(Likely) benign	1 lab	338d4d85db
4:3076693 HTT G>T	4	3076693	3076693	G	T	HTT	c.147G>T	NM_002111.8	NP_002102.4:p.(Pro49=)	NC_000004.11:g.3076693G>T	(Likely) benign	1 lab	338f3dac2d
X:70352232 MED12 T>C	X	70352232	70352232	T	C	MED12	c.4259T>C	NM_005120.3	NP_005111.2:p.(Leu1420Pro)	NC_000023.10:g.70352232T>C	VUS	1 lab	ea3681493a
9:130630800 AK1 G>A	9	130630800	130630800	G	A	AK1	c.325-9C>T	NM_000476.2	NP_000467.1:p.?	NC_000009.11:g.130630800G>A	(Likely) benign	1 lab	3392803417
21:47574224 FTCD G>T	21	47574224	47574224	G	T	FTCD	c.77C>A	NM_001320412.1	NP_001307341.1:p.(Ala26Asp)	NC_000021.8:g.47574224G>T	VUS	1 lab	3392b931ef
17:29556892 NF1 A>ATCT	17	29556892	29556893	A	ATCT	NF1	c.2890_2891insTCT	NM_000267.3	NP_000258.1:p.(Thr964delinsIleSer)	NC_000017.10:g.29556892_29556893insTCT	(Likely) pathogenic	1 lab	339427d50a
15:48808496 FBN1 G>C	15	48808496	48808496	G	C	FBN1	c.1211C>G	NM_000138.4	NP_000129.3:p.(Pro404Arg)	NC_000015.9:g.48808496G>C	(Likely) benign	1 lab	339428965c
X:152818599 ATP2B3 C>T	X	152818599	152818599	C	T	ATP2B3	c.1930C>T	NM_021949.3	NP_068768.2:p.(Arg644Cys)	NC_000023.10:g.152818599C>T	VUS	1 lab	33959b2bb8
8:145740356 RECQL4 C>T	8	145740356	145740356	C	T	RECQL4	c.1584G>A	NM_004260.3	NP_004251.3:p.(Leu528=)	NC_000008.10:g.145740356C>T	VUS	1 lab	33a4292cdf
5:90119297 ADGRV1 G>A	5	90119297	90119297	G	A	ADGRV1	c.16252G>A	NM_032119.4	NP_115495.3:p.(Val5418Met)	NC_000005.9:g.90119297G>A	(Likely) benign	1 lab	3396da7e90
4:77134617 SCARB2 C>T	4	77134617	77134617	C	T	SCARB2	c.80G>A	NM_005506.3	NP_005497.1:p.(Arg27Gln)	NC_000004.11:g.77134617C>T	VUS	1 lab	33970ef3b8
X:18961849 PHKA2 T>C	X	18961849	18961849	T	C	PHKA2	c.696A>G	NM_000292.2	NP_000283.1:p.(Pro232=)	NC_000023.10:g.18961849T>C	(Likely) benign	1 lab	339714172f
2:208988920 CRYGD G>C	2	208988920	208988920	G	C	CRYGD	c.168C>G	NM_006891.3	NP_008822.2:p.(Tyr56Ter)	NC_000002.11:g.208988920G>C	(Likely) benign	1 lab	3399855a2d
9:137622153 COL5A1 C>T	9	137622153	137622153	C	T	COL5A1	c.996C>T	NM_000093.4	NP_000084.3:p.(Asp332=)	NC_000009.11:g.137622153C>T	(Likely) benign	1 lab	339aa4e6fe
1:11346169 UBIAD1 G>A	1	11346169	11346169	G	A	UBIAD1	c.998G>A	NM_013319.2	NP_037451.1:p.(Gly333Asp)	NC_000001.10:g.11346169G>A	VUS	1 lab	339aff8f50
7:103061334 SLC26A5 C>T	7	103061334	103061334	C	T	SLC26A5	c.153-10G>A	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103061334C>T	(Likely) benign	1 lab	339e3439a6
18:21406679 LAMA3 T>C	18	21406679	21406679	T	C	LAMA3	c.2585T>C	NM_198129.2	NP_937762.2:p.(Leu862Pro)	NC_000018.9:g.21406679T>C	VUS	1 lab	339e443b63
1:160264280 COPA A>C	1	160264280	160264280	A	C	COPA	c.2697T>G	NM_001098398.2	NP_001091868.1:p.(Pro899=)	NC_000001.10:g.160264280A>C	(Likely) benign	1 lab	339f0e62c3
1:150482145 ECM1 G>A	1	150482145	150482145	G	A	ECM1	c.130G>A	NM_001202858.1	NP_001189787.1:p.(Ala44Thr)	NC_000001.10:g.150482145G>A	(Likely) benign	1 lab	339ff47d5b
3:170893075 TNIK G>T	3	170893075	170893075	G	T	TNIK	c.739C>A	NM_015028.3	NP_055843.1:p.(Arg247=)	NC_000003.11:g.170893075G>T	VUS	1 lab	33a318357c
9:35561342 RUSC2 C>T	9	35561342	35561342	C	T	RUSC2	c.4514C>T	NM_001135999.1	NP_001129471.1:p.(Pro1505Leu)	NC_000009.11:g.35561342C>T	VUS	1 lab	33a4916dbb
X:140969340 MAGEC3 C>T	X	140969340	140969340	C	T	MAGEC3	c.667C>T	NM_138702.1	NP_619647.1:p.(Pro223Ser)	NC_000023.10:g.140969340C>T	(Likely) benign	1 lab	33a5767cc4
3:38151579 DLEC1 A>G	3	38151579	38151579	A	G	DLEC1	c.3261-2A>G	NM_001321153.1	NP_001308082.1:p.?	NC_000003.11:g.38151579A>G	VUS	1 lab	33a5a1bbeb
11:61729841 BEST1 G>A	11	61729841	61729841	G	A	BEST1	c.1035G>A	NM_001139443.1	NP_001132915.1:p.(Arg345=)	NC_000011.9:g.61729841G>A	(Likely) benign	1 lab	33a6d042ad
17:57079064 TRIM37 C>T	17	57079064	57079064	C	T	TRIM37	c.2734G>A	NM_001353084.1	NP_001340013.1:p.(Asp912Asn)	NC_000017.10:g.57079064C>T	VUS	1 lab	33a78cda24
X:153050568 SRPK3 G>A	X	153050568	153050568	G	A	SRPK3	c.1459G>A	NM_014370.3	NP_055185.2:p.(Asp487Asn)	NC_000023.10:g.153050568G>A	VUS	1 lab	33a8be3439
12:49434801 KMT2D G>A	12	49434801	49434801	G	A	KMT2D	c.6752C>T	NM_003482.3	NP_003473.3:p.(Ser2251Leu)	NC_000012.11:g.49434801G>A	(Likely) benign	1 lab	33ac859579
5:161322809 GABRA1 G>A	5	161322809	161322809	G	A	GABRA1	c.994G>A	NM_001127644.2	NP_001121116.1:p.(Ala332Thr)	NC_000005.9:g.161322809G>A	VUS	1 lab	33ad62c7f6
8:144992571 PLEC G>A	8	144992571	144992571	G	A	PLEC	c.11829C>T	NM_201380.3	NP_958782.1:p.(Thr3943=)	NC_000008.10:g.144992571G>A	(Likely) benign	1 lab	33afd183af
19:50412873 NUP62 G>A	19	50412873	50412873	G	A	NUP62	c.192C>T	NM_016553.4	NP_057637.2:p.(Thr64=)	NC_000019.9:g.50412873G>A	(Likely) benign	1 lab	33afeea524
11:6561219 DNHD1 C>T	11	6561219	6561219	C	T	DNHD1	c.3534C>T	NM_144666.2	NP_653267.2:p.(Tyr1178=)	NC_000011.9:g.6561219C>T	(Likely) benign	1 lab	33aff4fc78
1:227083143 PSEN2 C>G	1	227083143	227083143	C	G	PSEN2	c.1210C>G	NM_000447.2	NP_000438.2:p.(Leu404Val)	NC_000001.10:g.227083143C>G	VUS	1 lab	33b05d6a19
7:107605124 LAMB1 G>A	7	107605124	107605124	G	A	LAMB1	c.1571C>T	NM_002291.2	NP_002282.2:p.(Ala524Val)	NC_000007.13:g.107605124G>A	VUS	1 lab	33b14f76d3
X:48776106 PIM2 C>G	X	48776106	48776106	C	G	PIM2	c.6G>C	NM_006875.3	NP_006866.2:p.(Leu2Phe)	NC_000023.10:g.48776106C>G	VUS	1 lab	33b1d1063b
7:128415814 OPN1SW G>A	7	128415814	128415814	G	A	OPN1SW	c.31C>T	NM_001708.2	NP_001699.1:p.(Leu11=)	NC_000007.13:g.128415814G>A	(Likely) benign	1 lab	33b8363d11
17:1679865 SERPINF1 T>A	17	1679865	1679865	T	A	SERPINF1	c.826T>A	NM_002615.6	NP_002606.3:p.(Phe276Ile)	NC_000017.10:g.1679865T>A	VUS	1 lab	33bb5c4ac9
13:110827015 COL4A1 C>G	13	110827015	110827015	C	G	COL4A1	c.3280G>C	NM_001845.5	NP_001836.3:p.(Gly1094Arg)	NC_000013.10:g.110827015C>G	VUS	1 lab	33bb64314e
4:119204177 PRSS12 T>TG	4	119204177	119204178	T	TG	PRSS12	c.2128dup	NM_003619.3	NP_003610.2:p.(Gln710ProfsTer15)	NC_000004.11:g.119204178dup	VUS	1 lab	33bb972c5d
13:114438091 GRK1 G>T	13	114438091	114438091	G	T	GRK1	c.1447G>T	NM_002929.3	NP_002920.1:p.(Asp483Tyr)	NC_000013.10:g.114438091G>T	VUS	1 lab	33bc979e43
8:6302706 MCPH1 G>A	8	6302706	6302706	G	A	MCPH1	c.1463G>A	NM_024596.4	NP_078872.2:p.(Gly488Glu)	NC_000008.10:g.6302706G>A	(Likely) benign	1 lab	33ca11bb7a
X:150840698 PASD1 GGCAGCTGCGGGAGCA>G	X	150840698	150840715	GGCAGCTGCGGGAGCA	G	PASD1	c.1484_1498del	NM_173493.3	NP_775764.2:p.(Gln495_Gln499del)	NC_000023.10:g.150840701_150840715del	VUS	1 lab	33be936410
12:53186122 KRT3 G>A	12	53186122	53186122	G	A	KRT3	c.1089C>T	NM_057088.3	NP_476429.2:p.(Arg363=)	NC_000012.11:g.53186122G>A	(Likely) benign	1 lab	ea3954259e
6:110064355 FIG4 G>A	6	110064355	110064355	G	A	FIG4	c.919G>A	NM_014845.5	NP_055660.1:p.(Asp307Asn)	NC_000006.11:g.110064355G>A	VUS	1 lab	33bfa89fda
X:148577980 IDS A>T	X	148577980	148577980	A	T	IDS	c.776T>A	NM_000202.7	NP_000193.1:p.(Leu259Gln)	NC_000023.10:g.148577980A>T	VUS	1 lab	33c1bc28f4
7:21584693 DNAH11 G>T	7	21584693	21584693	G	T	DNAH11				NC_000007.13:g.21584693G>T	(Likely) benign	1 lab	33c3961824
3:132196815 DNAJC13 T>A	3	132196815	132196815	T	A	DNAJC13	c.2550-10T>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132196815T>A	(Likely) benign	1 lab	33c4ca6fde
11:6652545 DCHS1 T>C	11	6652545	6652545	T	C	DCHS1				NC_000011.9:g.6652545T>C	(Likely) benign	1 lab	33c4ecbb62
16:21133303 DNAH3 A>G	16	21133303	21133303	A	G	DNAH3	c.1460T>C	NM_001347886.1	NP_001334815.1:p.(Phe487Ser)	NC_000016.9:g.21133303A>G	VUS	1 lab	33c5725bba
X:2867484 ARSL C>T	X	2867484	2867484	C	T	ARSL	c.790G>A	NM_001282628.1	NP_001269557.1:p.(Ala264Thr)	NC_000023.10:g.2867484C>T	(Likely) benign	1 lab	33c6b36329
8:11422045 BLK G>A	8	11422045	11422045	G	A	BLK	c.*428G>A	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11422045G>A	(Likely) benign	1 lab	ea3bddf287
X:152955873 SLC6A8 A>G	X	152955873	152955873	A	G	SLC6A8	c.306A>G	NM_005629.3	NP_005620.1:p.(Gly102=)	NC_000023.10:g.152955873A>G	(Likely) benign	1 lab	33c8839f78
19:13409624 CACNA1A C>T	19	13409624	13409624	C	T	CACNA1A	c.2835G>A	NM_023035.2	NP_075461.2:p.(Glu945=)	NC_000019.9:g.13409624C>T	(Likely) benign	1 lab	33c8ee3ad1
21:47852152 PCNT C>CG	21	47852152	47852153	C	CG	PCNT	c.8751+24dup	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47852153dup	(Likely) benign	1 lab	33c9d2157d
2:55908035 PNPT1 C>A	2	55908035	55908035	C	A	PNPT1	c.472G>T	NM_033109.4	NP_149100.2:p.(Ala158Ser)	NC_000002.11:g.55908035C>A	VUS	1 lab	33cb58441e
10:123843357 TACC2 G>T	10	123843357	123843357	G	T	TACC2	c.1342G>T	NM_206862.3	NP_996744.3:p.(Ala448Ser)	NC_000010.10:g.123843357G>T	(Likely) benign	1 lab	33cd826b65
12:107080877 RFX4 T>C	12	107080877	107080877	T	C	RFX4	c.591+2T>C	NM_213594.2	NP_998759.1:p.?	NC_000012.11:g.107080877T>C	VUS	1 lab	33ce0285ad
16:72110204 HPR T>C	16	72110204	72110204	T	C	HPR	c.271T>C	NM_020995.3	NP_066275.3:p.(Cys91Arg)	NC_000016.9:g.72110204T>C	VUS	1 lab	33ce96862b
4:107249346 AIMP1 A>AT	4	107249346	107249347	A	AT	AIMP1	c.338dup	NM_004757.3	NP_004748.2:p.(Gly115ArgfsTer14)	NC_000004.11:g.107249347dup	VUS	1 lab	33d2234db3
13:23909422 SACS G>A	13	23909422	23909422	G	A	SACS	c.8593C>T	NM_014363.5	NP_055178.3:p.(His2865Tyr)	NC_000013.10:g.23909422G>A	VUS	1 lab	33d3427db4
17:29653089 NF1 T>TG	17	29653089	29653090	T	TG	NF1	c.5025dup	NM_000267.3	NP_000258.1:p.(Leu1676AlafsTer7)	NC_000017.10:g.29653090dup	(Likely) pathogenic	1 lab	33d35c2db3
16:2136340 TSC2 C>T	16	2136340	2136340	C	T	TSC2	c.4809C>T	NM_000548.3	NP_000539.2:p.(Asp1603=)	NC_000016.9:g.2136340C>T	(Likely) benign	1 lab	33d44681cb
11:22296239 ANO5 C>T	11	22296239	22296239	C	T	ANO5	c.2360C>T	NM_213599.2	NP_998764.1:p.(Ala787Val)	NC_000011.9:g.22296239C>T	(Likely) benign	1 lab	33d5bc6859
4:88535917 DSPP C>T	4	88535917	88535917	C	T	DSPP	c.2103C>T	NM_014208.3	NP_055023.2:p.(Ser701=)	NC_000004.11:g.88535917C>T	(Likely) benign	1 lab	33d5f78dea
16:8839954 ABAT A>G	16	8839954	8839954	A	G	ABAT	c.167A>G	NM_000663.5	NP_000654.2:p.(Gln56Arg)	NC_000016.9:g.8839954A>G	(Likely) benign	1 lab	ea3cd5489d
12:22070050 ABCC9 A>G	12	22070050	22070050	A	G	ABCC9	c.407-13T>C	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22070050A>G	(Likely) benign	1 lab	33d97c1959
15:100516317 ADAMTS17 G>A	15	100516317	100516317	G	A	ADAMTS17	c.3060C>T	NM_139057.3	NP_620688.2:p.(Tyr1020=)	NC_000015.9:g.100516317G>A	(Likely) benign	1 lab	33da08739b
2:99012300 CNGA3 T>G	2	99012300	99012300	T	G	CNGA3	c.674-7T>G	NM_001298.2	NP_001289.1:p.?	NC_000002.11:g.99012300T>G	(Likely) benign	1 lab	33da9d38c6
3:44488439 ZNF445 T>A	3	44488439	44488439	T	A	ZNF445	c.2724A>T	NM_181489.6	NP_852466.1:p.(Arg908Ser)	NC_000003.11:g.44488439T>A	(Likely) benign	1 lab	33dc19322e
X:51361537 CENPVL3 C>G	X	51361537	51361537	C	G	CENPVL3	c.234G>C	NM_001355276.1	NP_001342205.1:p.(Arg78=)	NC_000023.10:g.51361537C>G	(Likely) benign	1 lab	33dd886f4c
2:70315815 PCBP1 A>T	2	70315815	70315815	A	T	PCBP1	c.940A>T	NM_006196.3	NP_006187.2:p.(Lys314Ter)	NC_000002.11:g.70315815A>T	VUS	1 lab	33de675ac1
1:11836574 C1orf167 G>A	1	11836574	11836574	G	A	C1orf167	c.2218G>A	NM_001010881.1	NP_001010881.1:p.(Gly740Ser)	NC_000001.10:g.11836574G>A	(Likely) benign	1 lab	33dec5d097
3:130293139 COL6A6 T>C	3	130293139	130293139	T	C	COL6A6	c.3317T>C	NM_001102608.2	NP_001096078.1:p.(Leu1106Pro)	NC_000003.11:g.130293139T>C	VUS	1 lab	33df34b5bf
2:48066596 FBXO11 T>C	2	48066596	48066596	T	C	FBXO11	c.404A>G	NM_001190274.1	NP_001177203.1:p.(Lys135Arg)	NC_000002.11:g.48066596T>C	(Likely) pathogenic	1 lab	33df6a6aa4
1:9775688 PIK3CD G>A	1	9775688	9775688	G	A	PIK3CD	c.231G>A	NM_005026.3	NP_005017.3:p.(Ala77=)	NC_000001.10:g.9775688G>A	(Likely) benign	1 lab	33e15beb52
4:657588 PDE6B GCGGCAGCACGAGCACGTGA>G	4	657588	657607	GCGGCAGCACGAGCACGTGA	G	PDE6B	c.1951_1969del	NM_000283.4	NP_000274.3:p.(Arg651SerfsTer3)	NC_000004.11:g.657589_657607del	(Likely) pathogenic	1 lab	33e1a65357
X:74725650 ZDHHC15 T>A	X	74725650	74725650	T	A	ZDHHC15	c.163+6A>T	NM_144969.2	NP_659406.1:p.?	NC_000023.10:g.74725650T>A	(Likely) benign	1 lab	33e27fe186
2:49216145 FSHR G>A	2	49216145	49216145	G	A	FSHR	c.495C>T	NM_000145.3	NP_000136.2:p.(Phe165=)	NC_000002.11:g.49216145G>A	(Likely) benign	1 lab	33e42dcfec
16:89187227 ACSF3 T>C	16	89187227	89187227	T	C	ACSF3	c.1145T>C	NM_001243279.2	NP_001230208.1:p.(Leu382Pro)	NC_000016.9:g.89187227T>C	VUS	1 lab	33e442522a
17:36484689 GPR179 G>A	17	36484689	36484689	G	A	GPR179	c.4763C>T	NM_001004334.3	NP_001004334.3:p.(Ala1588Val)	NC_000017.10:g.36484689G>A	VUS	1 lab	33e4496f61
2:231035410 SP110 G>A	2	231035410	231035410	G	A	SP110	c.1955C>T	NM_080424.2	NP_536349.2:p.(Thr652Met)	NC_000002.11:g.231035410G>A	(Likely) benign	1 lab	33e4e6beed
X:77298876 ATP7A G>A	X	77298876	77298876	G	A	ATP7A	c.4067G>A	NM_000052.6	NP_000043.4:p.(Arg1356Gln)	NC_000023.10:g.77298876G>A	(Likely) benign	1 lab	33e58f10f2
3:160037626 IFT80 G>A	3	160037626	160037626	G	A	IFT80	c.468C>T	NM_001190241.1	NP_001177170.1:p.(Val156=)	NC_000003.11:g.160037626G>A	(Likely) benign	1 lab	33e78d30fe
16:2134505 TSC2 GC>G	16	2134505	2134506	GC	G	TSC2	c.4283del	NM_000548.5	NP_000539.2:p.(Ala1428ValfsTer48)	NC_000016.9:g.2134506del	(Likely) pathogenic	1 lab	33e7b50522
11:121038848 TECTA C>T	11	121038848	121038848	C	T	TECTA	c.5672C>T	NM_005422.2	NP_005413.2:p.(Thr1891Met)	NC_000011.9:g.121038848C>T	VUS	1 lab	33e9cd4a78
20:8755294 PLCB1 G>A	20	8755294	8755294	G	A	PLCB1	c.3039G>A	NM_182734.2	NP_877398.1:p.(Gln1013=)	NC_000020.10:g.8755294G>A	(Likely) benign	1 lab	33eabd36fb
17:38975208 KRT10 T>C	17	38975208	38975208	T	C	KRT10	c.1579A>G	NM_000421.3	NP_000412.3:p.(Ser527Gly)	NC_000017.10:g.38975208T>C	(Likely) benign	1 lab	33eacd54e5
16:2134391 TSC2 G>T	16	2134391	2134391	G	T	TSC2	c.4168G>T	NM_000548.3	NP_000539.2:p.(Glu1390Ter)	NC_000016.9:g.2134391G>T	(Likely) pathogenic	1 lab	33ede4806d
6:158923969 TULP4 G>A	6	158923969	158923969	G	A	TULP4	c.3274G>A	NM_020245.5	NP_064630.2:p.(Glu1092Lys)	NC_000006.11:g.158923969G>A	VUS	1 lab	ea3ef90f0d
4:79391160 FRAS1 G>A	4	79391160	79391160	G	A	FRAS1	c.7286G>A	NM_025074.7	NP_079350.5:p.(Arg2429Gln)	NC_000004.11:g.79391160G>A	(Likely) benign	1 lab	33ef95e44e
1:7725128 CAMTA1 A>G	1	7725128	7725128	A	G	CAMTA1	c.2521A>G	NM_015215.3	NP_056030.1:p.(Ser841Gly)	NC_000001.10:g.7725128A>G	(Likely) benign	1 lab	33eff4e2fb
22:47370218 TBC1D22A G>A	22	47370218	47370218	G	A	TBC1D22A	c.958G>A	NM_001284304.1	NP_001271233.1:p.(Gly320Ser)	NC_000022.10:g.47370218G>A	(Likely) benign	1 lab	33f2b0c39a
17:18925387 GRAP C>T	17	18925387	18925387	C	T	GRAP	c.539G>A	NM_006613.3	NP_006604.1:p.(Arg180His)	NC_000017.10:g.18925387C>T	VUS	1 lab	33f5a78b4f
17:78186002 SGSH C>T	17	78186002	78186002	C	T	SGSH	c.817G>A	NM_000199.4	NP_000190.1:p.(Asp273Asn)	NC_000017.10:g.78186002C>T	(Likely) pathogenic	1 lab	33f5b2e76c
11:76916506 MYO7A G>C	11	76916506	76916506	G	C	MYO7A	c.5481-1G>C	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76916506G>C	(Likely) pathogenic	1 lab	33f7108141
16:67201734 HSF4 G>A	16	67201734	67201734	G	A	HSF4	c.966G>A	NM_001040667.2	NP_001035757.1:p.(Pro322=)	NC_000016.9:g.67201734G>A	(Likely) benign	1 lab	33f7a366a1
15:85327743 ZNF592 A>G	15	85327743	85327743	A	G	ZNF592	c.1837A>G	NM_014630.2	NP_055445.2:p.(Ile613Val)	NC_000015.9:g.85327743A>G	VUS	1 lab	33f8dec4f0
14:24631460 IRF9 C>G	14	24631460	24631460	C	G	IRF9	c.107C>G	NM_006084.4	NP_006075.3:p.(Thr36Ser)	NC_000014.8:g.24631460C>G	VUS	1 lab	33fa88862b
4:174090008 GALNT7 A>C	4	174090008	174090008	A	C	GALNT7	c.22A>C	NM_017423.3	NP_059119.2:p.(Ile8Leu)	NC_000004.11:g.174090008A>C	(Likely) benign	1 lab	33fb5e7ddc
22:27024281 CRYBA4 C>T	22	27024281	27024281	C	T	CRYBA4	c.330C>T	NM_001886.2	NP_001877.1:p.(Phe110=)	NC_000022.10:g.27024281C>T	(Likely) benign	1 lab	33fe4fa217
1:27434181 SLC9A1 C>T	1	27434181	27434181	C	T	SLC9A1	c.1240G>A	NM_003047.4	NP_003038.2:p.(Val414Ile)	NC_000001.10:g.27434181C>T	VUS	1 lab	34013f2d54
X:152160008 PNMA5 G>A	X	152160008	152160008	G	A	PNMA5	c.135C>T	NM_001103150.1	NP_001096620.1:p.(Pro45=)	NC_000023.10:g.152160008G>A	(Likely) benign	1 lab	3402565f50
17:5436661 NLRP1 C>T	17	5436661	5436661	C	T	NLRP1	c.3096G>A	NM_033004.4	NP_127497.1:p.(Leu1032=)	NC_000017.10:g.5436661C>T	(Likely) benign	1 lab	34034ff2db
10:48390527 RBP3 C>T	10	48390527	48390527	C	T	RBP3	c.351G>A	NM_002900.2	NP_002891.1:p.(Leu117=)	NC_000010.10:g.48390527C>T	(Likely) benign	1 lab	340410dc63
8:144993666 PLEC C>T	8	144993666	144993666	C	T	PLEC	c.10734G>A	NM_201380.4	NP_958782.1:p.(Ser3578=)	NC_000008.10:g.144993666C>T	(Likely) benign	1 lab	ea43a4cfa4
1:245027236 HNRNPU T>G	1	245027236	245027236	T	G	HNRNPU	c.374A>C	NM_031844.2	NP_114032.2:p.(Glu125Ala)	NC_000001.10:g.245027236T>G	(Likely) benign	1 lab	340598e5cd
22:51169619 MISSING A>G	22	51169619	51169619	A	G	MISSING				NC_000022.10:g.51169619A>G	VUS	1 lab	3406356fa0
19:30054799 VSTM2B G>A	19	30054799	30054799	G	A	VSTM2B	c.816G>A	NM_001146339.1	NP_001139811.1:p.(Leu272=)	NC_000019.9:g.30054799G>A	(Likely) benign	1 lab	3407a74808
15:62234275 VPS13C A>G	15	62234275	62234275	A	G	VPS13C	c.5149-9T>C	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62234275A>G	(Likely) benign	1 lab	3409a954da
1:17318512 ATP13A2 T>C	1	17318512	17318512	T	C	ATP13A2	c.2103A>G	NM_001141973.2	NP_001135445.1:p.(Gln701=)	NC_000001.10:g.17318512T>C	(Likely) benign	1 lab	3409d4f321
6:49426991 MMUT G>T	6	49426991	49426991	G	T	MMUT	c.189C>A	NM_000255.3	NP_000246.2:p.(Thr63=)	NC_000006.11:g.49426991G>T	(Likely) benign	1 lab	340a8853b9
1:160319343 NCSTN T>G	1	160319343	160319343	T	G	NCSTN	c.259T>G	NM_001290184.1	NP_001277113.1:p.(Leu87Val)	NC_000001.10:g.160319343T>G	VUS	1 lab	340bc90dc2
3:129195523 IFT122 C>T	3	129195523	129195523	C	T	IFT122	c.1179C>T	NM_052985.3	NP_443711.2:p.(Asp393=)	NC_000003.11:g.129195523C>T	(Likely) benign	1 lab	340cd23025
3:195505935 MUC4 A>C	3	195505935	195505935	A	C	MUC4	c.12516T>G	NM_018406.6	NP_060876.5:p.(Gly4172=)	NC_000003.11:g.195505935A>C	(Likely) benign	1 lab	340cdcd7b5
5:82835360 VCAN A>G	5	82835360	82835360	A	G	VCAN	c.6538A>G	NM_004385.4	NP_004376.2:p.(Met2180Val)	NC_000005.9:g.82835360A>G	(Likely) benign	1 lab	340da80bbd
19:18288668 IFI30 C>T	19	18288668	18288668	C	T	IFI30	c.700C>T	NM_006332.5	NP_006323.2:p.(Pro234Ser)	NC_000019.9:g.18288668C>T	VUS	1 lab	340efc4ec7
11:30033939 KCNA4 T>C	11	30033939	30033939	T	C	KCNA4	c.287A>G	NM_002233.3	NP_002224.1:p.(His96Arg)	NC_000011.9:g.30033939T>C	(Likely) benign	1 lab	34109cf1d0
11:65638537 EFEMP2 GC>G	11	65638537	65638540	GC	G	EFEMP2	c.367+90del	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65638540del	(Likely) benign	1 lab	3410a49b21
17:19189080 EPN2 TCACTTGTGACCGCG>T	17	19189080	19189096	TCACTTGTGACCGCG	T	EPN2	c.746_759del	NM_014964.5	NP_055779.2:p.(Thr249SerfsTer20)	NC_000017.10:g.19189083_19189096del	VUS	1 lab	34117f0ba0
7:21784550 DNAH11 G>A	7	21784550	21784550	G	A	DNAH11				NC_000007.13:g.21784550G>A	(Likely) benign	1 lab	341365b9cb
17:80021337 DUS1L AACTC>A	17	80021337	80021346	AACTC	A	DUS1L	c.397+3_397+6del	NM_022156.5	NP_071439.3:p.?	NC_000017.10:g.80021343_80021346del	VUS	1 lab	34142e2555
5:140503856 PCDHB4 G>C	5	140503856	140503856	G	C	PCDHB4	c.2276G>C	NM_018938.3	NP_061761.1:p.(Gly759Ala)	NC_000005.9:g.140503856G>C	(Likely) benign	1 lab	3414cff9f2
6:143800311 PEX3 T>C	6	143800311	143800311	T	C	PEX3	c.917T>C	NM_003630.2	NP_003621.1:p.(Leu306Pro)	NC_000006.11:g.143800311T>C	(Likely) benign	1 lab	341645736f
8:145139325 GPAA1 G>A	8	145139325	145139325	G	A	GPAA1	c.823G>A	NM_003801.4	NP_003792.1:p.(Glu275Lys)	NC_000008.10:g.145139325G>A	(Likely) benign	1 lab	3416c863a8
9:13193234 MPDZ G>A	9	13193234	13193234	G	A	MPDZ	c.1735C>T	NM_003829.4	NP_003820.2:p.(Arg579Ter)	NC_000009.11:g.13193234G>A	(Likely) pathogenic	1 lab	341af8f379
19:38632048 SIPA1L3 G>A	19	38632048	38632048	G	A	SIPA1L3	c.3368G>A	NM_015073.2	NP_055888.1:p.(Arg1123Gln)	NC_000019.9:g.38632048G>A	VUS	1 lab	341c168495
22:38121182 TRIOBP C>T	22	38121182	38121182	C	T	TRIOBP	c.2619C>T	NM_001039141.2	NP_001034230.1:p.(Thr873=)	NC_000022.10:g.38121182C>T	(Likely) benign	1 lab	342056fbf1
11:71155908 DHCR7 G>A	11	71155908	71155908	G	A	DHCR7	c.91C>T	NM_001360.2	NP_001351.2:p.(Arg31Cys)	NC_000011.9:g.71155908G>A	VUS	1 lab	3420c3e205
7:72413545 POM121 G>A	7	72413545	72413545	G	A	POM121	c.2218G>A	NM_001257190.2	NP_001244119.1:p.(Ala740Thr)	NC_000007.13:g.72413545G>A	VUS	1 lab	3423828727
20:35433265 MTCL2 G>A	20	35433265	35433265	G	A	MTCL2	c.2960C>T	NM_080627.4	NP_542194.2:p.(Thr987Met)	NC_000020.10:g.35433265G>A	VUS	1 lab	3423ac6e8b
9:71845034 TJP2 C>T	9	71845034	71845034	C	T	TJP2	c.1557C>T	NM_004817.4	NP_004808.2:p.(Asp519=)	NC_000009.11:g.71845034C>T	(Likely) benign	1 lab	34251ac3ed
3:193384173 OPA1 C>T	3	193384173	193384173	C	T	OPA1	c.2867C>T	NM_130837.2	NP_570850.2:p.(Thr956Ile)	NC_000003.11:g.193384173C>T	VUS	1 lab	34252e5def
16:88502670 ZNF469 C>G	16	88502670	88502670	C	G	ZNF469				NC_000016.9:g.88502670C>G	VUS	1 lab	3426dcc2b3
2:21239501 APOB T>A	2	21239501	21239501	T	A	APOB	c.3142A>T	NM_000384.2	NP_000375.2:p.(Thr1048Ser)	NC_000002.11:g.21239501T>A	(Likely) benign	1 lab	3428d92727
9:35706510 TLN1 G>A	9	35706510	35706510	G	A	TLN1	c.5127C>T	NM_006289.4	NP_006280.3:p.(Ile1709=)	NC_000009.11:g.35706510G>A	(Likely) benign	1 lab	34290b53c1
X:152814120 ATP2B3 C>T	X	152814120	152814120	C	T	ATP2B3	c.1146C>T	NM_021949.3	NP_068768.2:p.(Thr382=)	NC_000023.10:g.152814120C>T	(Likely) benign	1 lab	3429199a43
8:144512477 MAFA C>A	8	144512477	144512477	C	A	MAFA	c.100G>T	NM_201589.3	NP_963883.2:p.(Glu34Ter)	NC_000008.10:g.144512477C>A	(Likely) pathogenic	1 lab	34293badb5
22:29107873 CHEK2 G>A	22	29107873	29107873	G	A	CHEK2	c.792+24C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29107873G>A	(Likely) benign	1 lab	342a1a60be
8:49985399 PPDPFL G>T	8	49985399	49985399	G	T	PPDPFL	c.10G>T	NM_001256598.1	NP_001243527.1:p.(Val4Leu)	NC_000008.10:g.49985399G>T	(Likely) benign	1 lab	342cc903dd
2:170103277 LRP2 T>C	2	170103277	170103277	T	C	LRP2	c.3128A>G	NM_004525.3	NP_004516.2:p.(Tyr1043Cys)	NC_000002.11:g.170103277T>C	(Likely) benign	1 lab	342d73dbe4
X:49111963 FOXP3 A>G	X	49111963	49111963	A	G	FOXP3	c.743T>C	NM_014009.3	NP_054728.2:p.(Leu248Pro)	NC_000023.10:g.49111963A>G	VUS	1 lab	342de06cf9
9:5080280 JAK2 A>C	9	5080280	5080280	A	C	JAK2	c.2183A>C	NM_001322194.1	NP_001309123.1:p.(Lys728Thr)	NC_000009.11:g.5080280A>C	VUS	1 lab	342ed17843
1:220345286 RAB3GAP2 G>A	1	220345286	220345286	G	A	RAB3GAP2	c.2522C>T	NM_012414.3	NP_036546.2:p.(Ala841Val)	NC_000001.10:g.220345286G>A	VUS	1 lab	342f03003f
19:38684388 SIPA1L3 C>G	19	38684388	38684388	C	G	SIPA1L3	c.4808C>G	NM_015073.2	NP_055888.1:p.(Pro1603Arg)	NC_000019.9:g.38684388C>G	VUS	1 lab	342f179482
X:25033644 ARX C>T	X	25033644	25033644	C	T	ARX	c.196+15G>A	NM_139058.2	NP_620689.1:p.?	NC_000023.10:g.25033644C>T	(Likely) benign	1 lab	342f73e7e0
13:39263986 FREM2 C>T	13	39263986	39263986	C	T	FREM2	c.2505C>T	NM_207361.5	NP_997244.4:p.(Thr835=)	NC_000013.10:g.39263986C>T	(Likely) benign	1 lab	34312de6af
10:118029082 GFRA1 C>T	10	118029082	118029082	C	T	GFRA1	c.351G>A	NM_005264.5	NP_005255.1:p.(Glu117=)	NC_000010.10:g.118029082C>T	(Likely) benign	1 lab	343153c603
15:25615983 UBE3A A>G	15	25615983	25615983	A	G	UBE3A	c.1347T>C	NM_000462.5	NP_000453.2:p.(Phe449=)	NC_000015.9:g.25615983A>G	(Likely) benign	1 lab	3431844423
10:73574874 CDH23 G>A	10	73574874	73574874	G	A	CDH23	c.9904G>A	NM_022124.5	NP_071407.4:p.(Glu3302Lys)	NC_000010.10:g.73574874G>A	VUS	1 lab	343211bd89
9:108337334 FKTN C>T	9	108337334	108337334	C	T	FKTN	c.21C>T	NM_001351496.1	NP_001338425.1:p.(Asn7=)	NC_000009.11:g.108337334C>T	(Likely) benign	1 lab	3432276b98
1:205028229 CNTN2 C>T	1	205028229	205028229	C	T	CNTN2	c.505C>T	NM_005076.4	NP_005067.1:p.(Leu169Phe)	NC_000001.10:g.205028229C>T	(Likely) benign	1 lab	3432411a01
X:11133043 HCCS C>T	X	11133043	11133043	C	T	HCCS	c.189C>T	NM_005333.5	NP_005324.3:p.(Tyr63=)	NC_000023.10:g.11133043C>T	(Likely) benign	1 lab	343259a7f2
2:73777391 ALMS1 T>C	2	73777391	73777391	T	C	ALMS1	c.9911-3T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73777391T>C	(Likely) benign	1 lab	3432930f81
10:55566501 PCDH15 T>G	10	55566501	55566501	T	G	PCDH15	c.4995A>C	NM_001354429.1	NP_001341358.1:p.(Pro1665=)	NC_000010.10:g.55566501T>G	(Likely) benign	1 lab	343317fc14
2:220417321 OBSL1 C>T	2	220417321	220417321	C	T	OBSL1	c.5245G>A	NM_015311.2	NP_056126.1:p.(Gly1749Arg)	NC_000002.11:g.220417321C>T	VUS	1 lab	34343f6efe
6:13305345 TBC1D7 G>C	6	13305345	13305345	G	C	TBC1D7	c.870C>G	NM_016495.5	NP_057579.1:p.(Val290=)	NC_000006.11:g.13305345G>C	(Likely) benign	1 lab	343620464f
22:51160848 MISSING G>A	22	51160848	51160848	G	A	MISSING				NC_000022.10:g.51160848G>A	(Likely) benign	1 lab	3437068c59
22:38519104 PLA2G6 T>C	22	38519104	38519104	T	C	PLA2G6	c.1055A>G	NM_001349867.1	NP_001336796.1:p.(His352Arg)	NC_000022.10:g.38519104T>C	VUS	1 lab	34374b1391
21:45706901 AIRE G>A	21	45706901	45706901	G	A	AIRE				NC_000021.8:g.45706901G>A	(Likely) benign	1 lab	34374ef531
7:128477590 FLNC G>A	7	128477590	128477590	G	A	FLNC	c.838G>A	NM_001458.5	NP_001449.3:p.(Ala280Thr)	NC_000007.13:g.128477590G>A	VUS	1 lab	ea4a2d23a2
2:202619318 ALS2 T>C	2	202619318	202619318	T	C	ALS2	c.1548A>G	NM_020919.3	NP_065970.2:p.(Glu516=)	NC_000002.11:g.202619318T>C	(Likely) benign	1 lab	34396caad5
11:35327628 SLC1A2 G>A	11	35327628	35327628	G	A	SLC1A2	c.723C>T	NM_004171.3	NP_004162.2:p.(Asn241=)	NC_000011.9:g.35327628G>A	(Likely) benign	1 lab	343c6b10ba
22:28195031 MN1 G>A	22	28195031	28195031	G	A	MN1	c.1501C>T	NM_002430.2	NP_002421.3:p.(Pro501Ser)	NC_000022.10:g.28195031G>A	VUS	1 lab	343fdbedec
14:64632053 SYNE2 A>C	14	64632053	64632053	A	C	SYNE2	c.16530A>C	NM_182914.2	NP_878918.2:p.(Lys5510Asn)	NC_000014.8:g.64632053A>C	VUS	1 lab	34406caff4
1:197062369 ASPM A>G	1	197062369	197062369	A	G	ASPM	c.9107T>C	NM_018136.4	NP_060606.3:p.(Ile3036Thr)	NC_000001.10:g.197062369A>G	VUS	1 lab	3442af98d4
10:104359301 SUFU C>T	10	104359301	104359301	C	T	SUFU	c.1022C>T	NM_016169.3	NP_057253.2:p.(Pro341Leu)	NC_000010.10:g.104359301C>T	VUS	1 lab	3444138726
9:14789070 FREM1 T>G	9	14789070	14789070	T	G	FREM1	c.4024A>C	NM_144966.5	NP_659403.4:p.(Thr1342Pro)	NC_000009.11:g.14789070T>G	VUS	1 lab	3445073dae
22:40706847 TNRC6B C>T	22	40706847	40706847	C	T	TNRC6B	c.4285C>T	NM_001162501.2	NP_001155973.1:p.(Arg1429Trp)	NC_000022.10:g.40706847C>T	VUS	1 lab	ea4fd1bc39
19:9072307 MUC16 G>A	19	9072307	9072307	G	A	MUC16	c.15139C>T	NM_024690.2	NP_078966.2:p.(Pro5047Ser)	NC_000019.9:g.9072307G>A	(Likely) benign	1 lab	34468c4ab7
11:45936170 PEX16 G>A	11	45936170	45936170	G	A	PEX16	c.526C>T	NM_004813.4	NP_004804.2:p.(Arg176Ter)	NC_000011.9:g.45936170G>A	(Likely) pathogenic	1 lab	ea5277a869
2:29519622 ALK C>T	2	29519622	29519622	C	T	ALK				NC_000002.11:g.29519622C>T	(Likely) benign	1 lab	3447fc3d1c
X:78618591 ITM2A G>T	X	78618591	78618591	G	T	ITM2A	c.289C>A	NM_004867.4	NP_004858.1:p.(Pro97Thr)	NC_000023.10:g.78618591G>T	(Likely) benign	1 lab	34497c30cf
X:153692523 PLXNA3 G>A	X	153692523	153692523	G	A	PLXNA3	c.1695G>A	NM_017514.4	NP_059984.3:p.(Val565=)	NC_000023.10:g.153692523G>A	(Likely) benign	1 lab	3449d29e2d
1:10705021 CASZ1 G>A	1	10705021	10705021	G	A	CASZ1	c.3821C>T	NM_001079843.3	NP_001073312.1:p.(Ala1274Val)	NC_000001.10:g.10705021G>A	VUS	1 lab	ea5444ae4f
X:135427693 ADGRG4 C>T	X	135427693	135427693	C	T	ADGRG4	c.1828C>T	NM_153834.3	NP_722576.3:p.(Gln610Ter)	NC_000023.10:g.135427693C>T	VUS	1 lab	344a263a3a
9:139370032 SEC16A A>G	9	139370032	139370032	A	G	SEC16A	c.2036T>C	NM_014866.1	NP_055681.1:p.(Leu679Pro)	NC_000009.11:g.139370032A>G	VUS	1 lab	344a438ae8
20:17475024 BFSP1 G>A	20	17475024	17475024	G	A	BFSP1	c.1693C>T	NM_001195.5	NP_001186.1:p.(Arg565Trp)	NC_000020.10:g.17475024G>A	VUS	1 lab	ea590c64f6
16:89354944 ANKRD11 G>A	16	89354944	89354944	G	A	ANKRD11	c.736C>T	NM_013275.6	NP_037407.4:p.(His246Tyr)	NC_000016.9:g.89354944G>A	VUS	1 lab	ea5d346ad0
11:17618536 OTOG C>A	11	17618536	17618536	C	A	OTOG	c.3700C>A	NM_001277269.1	NP_001264198.1:p.(Arg1234=)	NC_000011.9:g.17618536C>A	(Likely) benign	1 lab	344bc3a9e7
1:153791329 GATAD2B G>A	1	153791329	153791329	G	A	GATAD2B	c.535C>T	NM_020699.3	NP_065750.1:p.(Arg179Ter)	NC_000001.10:g.153791329G>A	(Likely) pathogenic	1 lab	344c558cb1
19:2109153 AP3D1 T>G	19	2109153	2109153	T	G	AP3D1	c.3404A>C	NM_001261826.3	NP_001248755.1:p.(Lys1135Thr)	NC_000019.9:g.2109153T>G	VUS	1 lab	344d0047b5
2:202149917 CASP8 C>T	2	202149917	202149917	C	T	CASP8	c.1358C>T	NM_001080125.1	NP_001073594.1:p.(Pro453Leu)	NC_000002.11:g.202149917C>T	VUS	1 lab	344db09e71
22:46733760 TRMU A>T	22	46733760	46733760	A	T	TRMU	c.167A>T	NM_018006.4	NP_060476.2:p.(Asp56Val)	NC_000022.10:g.46733760A>T	VUS	1 lab	344f38bac5
11:102076653 YAP1 C>T	11	102076653	102076653	C	T	YAP1	c.832C>T	NM_001282101.1	NP_001269030.1:p.(Pro278Ser)	NC_000011.9:g.102076653C>T	(Likely) benign	1 lab	344fe3a486
1:150526895 ADAMTSL4 T>C	1	150526895	150526895	T	C	ADAMTSL4	c.1186T>C	NM_001288608.1	NP_001275537.1:p.(Ser396Pro)	NC_000001.10:g.150526895T>C	(Likely) benign	1 lab	345004d9ea
2:152717301 CACNB4 A>G	2	152717301	152717301	A	G	CACNB4	c.234T>C	NM_001330117.1	NP_001317046.1:p.(Ser78=)	NC_000002.11:g.152717301A>G	(Likely) benign	1 lab	3450e2e958
21:47836395 PCNT T>G	21	47836395	47836395	T	G	PCNT	c.6563T>G	NM_006031.5	NP_006022.3:p.(Met2188Arg)	NC_000021.8:g.47836395T>G	(Likely) benign	1 lab	345117937c
11:62298376 AHNAK G>A	11	62298376	62298376	G	A	AHNAK	c.3513C>T	NM_001620.2	NP_001611.1:p.(Leu1171=)	NC_000011.9:g.62298376G>A	(Likely) benign	1 lab	3452b706c6
19:45867116 ERCC2 G>A	19	45867116	45867116	G	A	ERCC2	c.1003C>T	NM_000400.3	NP_000391.1:p.(Arg335Trp)	NC_000019.9:g.45867116G>A	VUS	1 lab	345443dc89
17:29687504 NF1 G>A	17	29687504	29687504	G	A	NF1	c.8098-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29687504G>A	(Likely) pathogenic	1 lab	3454a07424
9:2643503 VLDLR C>T	9	2643503	2643503	C	T	VLDLR	c.792C>T	NM_003383.4	NP_003374.3:p.(Cys264=)	NC_000009.11:g.2643503C>T	VUS	1 lab	3454ec6fa6
4:100534247 MTTP G>A	4	100534247	100534247	G	A	MTTP	c.2167G>A	NM_000253.3	NP_000244.2:p.(Asp723Asn)	NC_000004.11:g.100534247G>A	VUS	1 lab	3455e2b973
3:52825551 ITIH1 T>TCCACC	3	52825551	52825553	T	TCCACC	ITIH1	c.2514_2515insCACCC	NM_002215.3	NP_002206.2:p.(Gly839HisfsTer24)	NC_000003.11:g.52825552_52825553insCACCC	VUS	1 lab	34565939e3
12:49447880 KMT2D C>T	12	49447880	49447880	C	T	KMT2D	c.554G>A	NM_003482.3	NP_003473.3:p.(Arg185His)	NC_000012.11:g.49447880C>T	(Likely) benign	1 lab	3456ff9e1d
9:133957445 LAMC3 G>A	9	133957445	133957445	G	A	LAMC3	c.3928-1G>A	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133957445G>A	(Likely) pathogenic	1 lab	345d2e3bcd
X:48972607 GPKOW G>A	X	48972607	48972607	G	A	GPKOW	c.984C>T	NM_015698.5	NP_056513.2:p.(Asn328=)	NC_000023.10:g.48972607G>A	(Likely) benign	1 lab	345e96788c
10:112572702 RBM20 T>A	10	112572702	112572702	T	A	RBM20	c.2547T>A	NM_001134363.1	NP_001127835.1:p.(Asn849Lys)	NC_000010.10:g.112572702T>A	VUS	1 lab	345ea3eecd
5:140221335 PCDHA8 A>G	5	140221335	140221335	A	G	PCDHA8	c.429A>G	NM_018911.3	NP_061734.1:p.(Ser143=)	NC_000005.9:g.140221335A>G	(Likely) benign	1 lab	345f58174f
2:186672136 FSIP2 G>A	2	186672136	186672136	G	A	FSIP2	c.18103G>A	NM_173651.3	NP_775922.3:p.(Glu6035Lys)	NC_000002.11:g.186672136G>A	VUS	1 lab	345f7f491e
13:111091157 COL4A2 C>A	13	111091157	111091157	C	A	COL4A2	c.912+142C>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111091157C>A	(Likely) benign	1 lab	34614e0179
1:22056243 USP48 A>G	1	22056243	22056243	A	G	USP48	c.1254T>C	NM_032236.7	NP_115612.4:p.(Tyr418=)	NC_000001.10:g.22056243A>G	(Likely) benign	1 lab	3461a5099d
4:71509540 ENAM G>T	4	71509540	71509540	G	T	ENAM	c.2397G>T	NM_031889.3	NP_114095.2:p.(Arg799Ser)	NC_000004.11:g.71509540G>T	(Likely) benign	1 lab	34632f5d21
19:15355248 BRD4 G>A	19	15355248	15355248	G	A	BRD4	c.2375C>T	NM_058243.2	NP_490597.1:p.(Ala792Val)	NC_000019.9:g.15355248G>A	VUS	1 lab	3463a292d5
18:67816148 RTTN C>T	18	67816148	67816148	C	T	RTTN	c.2298G>A	NM_173630.3	NP_775901.3:p.(Val766=)	NC_000018.9:g.67816148C>T	(Likely) benign	1 lab	34646e756e
21:47551890 COL6A2 G>T	21	47551890	47551890	G	T	COL6A2	c.2484G>T	NM_001849.3	NP_001840.3:p.(Thr828=)	NC_000021.8:g.47551890G>T	(Likely) benign	1 lab	34655f7b83
9:133924413 LAMC3 A>C	9	133924413	133924413	A	C	LAMC3	c.1526A>C	NM_006059.3	NP_006050.3:p.(Glu509Ala)	NC_000009.11:g.133924413A>C	(Likely) benign	1 lab	346588cbc6
X:37061634 FTHL18P G>A	X	37061634	37061634	G	A	FTHL18P	c.128C>T	NM_001271682.1	NP_001258611.1:p.(Pro43Leu)	NC_000023.10:g.37061634G>A	VUS	1 lab	346671c43a
6:31977998 TNXA T>G	6	31977998	31977998	T	G	TNXA	n.1775A>C	NR_001284.2		NC_000006.11:g.31977998T>G	(Likely) benign	1 lab	ea69d9d390
4:3475252 DOK7 T>C	4	3475252	3475252	T	C	DOK7	c.220=	NM_173660.5	NP_775931.3:p.(Leu74=)	NC_000004.11:g.3475252T>C	(Likely) benign	1 lab	ea723b924e
11:2929502 SLC67A1 G>T	11	2929502	2929502	G	T	SLC67A1	c.184G>T	NM_183233.2	NP_899056.2:p.(Gly62Cys)	NC_000011.9:g.2929502G>T	VUS	1 lab	34696b6fd5
17:73585608 MYO15B G>A	17	73585608	73585608	G	A	MYO15B	c.1470G>A	NM_001309242.1	NP_001296171.1:p.(Glu490=)	NC_000017.10:g.73585608G>A	(Likely) benign	1 lab	3469b4fff2
16:2138141 TSC2 G>GT	16	2138141	2138142	G	GT	TSC2	c.5160+2dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138142dup	VUS	1 lab	414cd3eba2
16:67919721 NRN1L G>A	16	67919721	67919721	G	A	NRN1L	c.176G>A	NM_198443.2	NP_940845.1:p.(Ser59Asn)	NC_000016.9:g.67919721G>A	VUS	1 lab	346a8c0472
12:76742038 BBS10 C>G	12	76742038	76742038	C	G	BBS10	c.101G>C	NM_024685.4	NP_078961.3:p.(Arg34Pro)	NC_000012.11:g.76742038C>G	VUS	1 lab	346b0eaad0
11:17631668 OTOG G>A	11	17631668	17631668	G	A	OTOG	c.4857G>A	NM_001277269.1	NP_001264198.1:p.(Ser1619=)	NC_000011.9:g.17631668G>A	(Likely) benign	1 lab	346bdfa083
X:83128341 CYLC1 A>T	X	83128341	83128341	A	T	CYLC1	c.625A>T	NM_021118.2	NP_066941.1:p.(Thr209Ser)	NC_000023.10:g.83128341A>T	VUS	1 lab	346dd96652
13:52524158 ATP7B C>G	13	52524158	52524158	C	G	ATP7B	c.2715G>C	NM_000053.3	NP_000044.2:p.(Glu905Asp)	NC_000013.10:g.52524158C>G	VUS	1 lab	346e3cfbc2
9:138670336 KCNT1 G>A	9	138670336	138670336	G	A	KCNT1	c.2589G>A	NM_020822.2	NP_065873.2:p.(Val863=)	NC_000009.11:g.138670336G>A	(Likely) benign	1 lab	346e465742
6:76731927 IMPG1 T>C	6	76731927	76731927	T	C	IMPG1	c.572A>G	NM_001563.3	NP_001554.2:p.(Asn191Ser)	NC_000006.11:g.76731927T>C	VUS	1 lab	346e48d90e
17:14095519 COX10 C>T	17	14095519	14095519	C	T	COX10	c.909C>T	NM_001303.3	NP_001294.2:p.(Ala303=)	NC_000017.10:g.14095519C>T	(Likely) benign	1 lab	346f0ca750
3:52384594 DNAH1 A>G	3	52384594	52384594	A	G	DNAH1	c.2717A>G	NM_015512.4	NP_056327.4:p.(Asp906Gly)	NC_000003.11:g.52384594A>G	(Likely) benign	1 lab	346f93e0e2
9:133945187 LAMC3 G>A	9	133945187	133945187	G	A	LAMC3	c.3019G>A	NM_006059.3	NP_006050.3:p.(Gly1007Ser)	NC_000009.11:g.133945187G>A	(Likely) benign	1 lab	346fdef5e7
14:23887464 MYH7 T>C	14	23887464	23887464	T	C	MYH7	c.4124A>G	NM_000257.4	NP_000248.2:p.(Tyr1375Cys)	NC_000014.8:g.23887464T>C	(Likely) pathogenic	1 lab	ea723b93c8
1:78407923 NEXN A>G	1	78407923	78407923	A	G	NEXN	c.1659+30A>G	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78407923A>G	(Likely) benign	1 lab	3472191105
6:56427001 DST G>A	6	56427001	56427001	G	A	DST	c.7649-3C>T	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56427001G>A	(Likely) benign	1 lab	34721d8164
13:111099122 COL4A2 G>A	13	111099122	111099122	G	A	COL4A2	c.1012-23G>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111099122G>A	(Likely) benign	1 lab	34725ed955
3:45557671 LARS2 C>A	3	45557671	45557671	C	A	LARS2	c.1947C>A	NM_015340.4	NP_056155.1:p.(Asp649Glu)	NC_000003.11:g.45557671C>A	(Likely) benign	1 lab	3472bf1cbd
7:150884639 ASB10 C>T	7	150884639	150884639	C	T	ASB10	c.171G>A	NM_080871.3	NP_543147.2:p.(Gly57=)	NC_000007.13:g.150884639C>T	(Likely) benign	1 lab	3477e0fa69
X:122805568 THOC2 T>C	X	122805568	122805568	T	C	THOC2	c.813A>G	NM_001081550.1	NP_001075019.1:p.(Ala271=)	NC_000023.10:g.122805568T>C	VUS	1 lab	347853f226
14:77743797 POMT2 G>A	14	77743797	77743797	G	A	POMT2	c.2175C>T	NM_013382.5	NP_037514.2:p.(Tyr725=)	NC_000014.8:g.77743797G>A	(Likely) benign	1 lab	3478754a92
15:51792317 DMXL2 G>C	15	51792317	51792317	G	C	DMXL2	c.3104C>G	NM_001174116.1	NP_001167587.1:p.(Pro1035Arg)	NC_000015.9:g.51792317G>C	(Likely) benign	1 lab	3479d428f6
16:77334307 ADAMTS18 C>G	16	77334307	77334307	C	G	ADAMTS18	c.2017-6G>C	NM_001326358.1	NP_001313287.1:p.?	NC_000016.9:g.77334307C>G	(Likely) benign	1 lab	347ace4e32
13:35747696 NBEA G>C	13	35747696	35747696	G	C	NBEA	c.4519G>C	NM_015678.4	NP_056493.3:p.(Val1507Leu)	NC_000013.10:g.35747696G>C	(Likely) benign	1 lab	347c114cbd
19:50189487 PRMT1 C>T	19	50189487	50189487	C	T	PRMT1	c.897C>T	NM_001536.5	NP_001527.3:p.(Thr299=)	NC_000019.9:g.50189487C>T	(Likely) benign	1 lab	347c953ffd
3:9934779 JAGN1 C>T	3	9934779	9934779	C	T	JAGN1	c.270C>T	NM_032492.4	NP_115881.3:p.(Leu90=)	NC_000003.11:g.9934779C>T	(Likely) benign	1 lab	347e8faad8
15:101924513 PCSK6 C>T	15	101924513	101924513	C	T	PCSK6	c.1428G>A	NM_138322.3	NP_612195.1:p.(Ala476=)	NC_000015.9:g.101924513C>T	(Likely) benign	1 lab	347ece62ac
17:61911070 SMARCD2 G>A	17	61911070	61911070	G	A	SMARCD2	c.1194C>T	NM_001098426.1	NP_001091896.1:p.(Asn398=)	NC_000017.10:g.61911070G>A	(Likely) benign	1 lab	347f8a4934
X:64732698 LAS1L T>G	X	64732698	64732698	T	G	LAS1L	c.2162A>C	NM_031206.7	NP_112483.1:p.(Gln721Pro)	NC_000023.10:g.64732698T>G	VUS	1 lab	ea7a271e06
11:1272719 MUC5B C>G	11	1272719	1272719	C	G	MUC5B	c.14609C>G	NM_002458.2	NP_002449.2:p.(Thr4870Ser)	NC_000011.9:g.1272719C>G	(Likely) benign	1 lab	3481fae4ee
4:106816865 NPNT C>G	4	106816865	106816865	C	G	NPNT	c.56C>G	NM_001184691.1	NP_001171620.1:p.(Ala19Gly)	NC_000004.11:g.106816865C>G	(Likely) benign	1 lab	3483f08a87
5:169139171 DOCK2 A>G	5	169139171	169139171	A	G	DOCK2	c.1603A>G	NM_004946.3	NP_004937.1:p.(Met535Val)	NC_000005.9:g.169139171A>G	VUS	1 lab	3484a173f4
21:46911168 COL18A1 G>A	21	46911168	46911168	G	A	COL18A1	c.2097G>A	NM_130445.2	NP_569712.2:p.(Gln699=)	NC_000021.8:g.46911168G>A	(Likely) benign	1 lab	34866939dd
13:111099153 COL4A2 C>T	13	111099153	111099153	C	T	COL4A2	c.1020C>T	NM_001846.3	NP_001837.2:p.(Ala340=)	NC_000013.10:g.111099153C>T	(Likely) benign	1 lab	34891aed39
4:110790962 LRIT3 A>G	4	110790962	110790962	A	G	LRIT3	c.1057A>G	NM_198506.4	NP_940908.3:p.(Ile353Val)	NC_000004.11:g.110790962A>G	VUS	1 lab	348a5b0c97
1:215848921 USH2A G>A	1	215848921	215848921	G	A	USH2A	c.12332C>T	NM_206933.2	NP_996816.2:p.(Ser4111Phe)	NC_000001.10:g.215848921G>A	VUS	1 lab	348b4b97c1
1:5924090 NPHP4 A>C	1	5924090	5924090	A	C	NPHP4	c.4000T>G	NM_015102.4	NP_055917.1:p.(Phe1334Val)	NC_000001.10:g.5924090A>C	VUS	1 lab	3491b1fe27
19:13007822 GCDH C>T	19	13007822	13007822	C	T	GCDH	c.951C>T	NM_000159.3	NP_000150.1:p.(Leu317=)	NC_000019.9:g.13007822C>T	(Likely) benign	1 lab	3491b31e39
2:101183005 PDCL3 A>G	2	101183005	101183005	A	G	PDCL3	c.47A>G	NM_024065.5	NP_076970.1:p.(Lys16Arg)	NC_000002.11:g.101183005A>G	(Likely) benign	1 lab	34922bb3f7
1:11826989 C1orf167 C>T	1	11826989	11826989	C	T	C1orf167	c.1146C>T	NM_001010881.1	NP_001010881.1:p.(Thr382=)	NC_000001.10:g.11826989C>T	(Likely) benign	1 lab	34923223b6
1:204944454 NFASC G>A	1	204944454	204944454	G	A	NFASC	c.1614G>A	NM_001005388.2	NP_001005388.2:p.(Thr538=)	NC_000001.10:g.204944454G>A	(Likely) benign	1 lab	3493068cb7
15:31197241 FAN1 C>T	15	31197241	31197241	C	T	FAN1	c.375C>T	NM_014967.4	NP_055782.3:p.(Ile125=)	NC_000015.9:g.31197241C>T	(Likely) benign	1 lab	349327d039
5:13922302 DNAH5 C>T	5	13922302	13922302	C	T	DNAH5	c.574G>A	NM_001369.2	NP_001360.1:p.(Ala192Thr)	NC_000005.9:g.13922302C>T	(Likely) benign	1 lab	34938fa054
1:6585940 NOL9 G>A	1	6585940	6585940	G	A	NOL9	c.2083C>T	NM_024654.5	NP_078930.4:p.(Pro695Ser)	NC_000001.10:g.6585940G>A	(Likely) benign	1 lab	3493ee936c
20:62373805 SLC2A4RG C>T	20	62373805	62373805	C	T	SLC2A4RG	c.797C>T	NM_020062.3	NP_064446.2:p.(Thr266Met)	NC_000020.10:g.62373805C>T	(Likely) benign	1 lab	349484fef4
16:72832618 ZFHX3 T>TA	16	72832618	72832634	T	TA	ZFHX3	c.3968-6dup	NM_006885.3	NP_008816.3:p.?	NC_000016.9:g.72832634dup	(Likely) benign	1 lab	3497ef92b1
16:2133755 TSC2 C>G	16	2133755	2133755	C	G	TSC2	c.3943C>G	NM_000548.3	NP_000539.2:p.(Pro1315Ala)	NC_000016.9:g.2133755C>G	(Likely) benign	1 lab	3499921aee
3:52544385 STAB1 C>T	3	52544385	52544385	C	T	STAB1	c.2649C>T	NM_015136.3	NP_055951.2:p.(Ser883=)	NC_000003.11:g.52544385C>T	(Likely) benign	1 lab	ea7c95d29d
12:40717058 LRRK2 T>C	12	40717058	40717058	T	C	LRRK2	c.5606T>C	NM_198578.3	NP_940980.3:p.(Met1869Thr)	NC_000012.11:g.40717058T>C	(Likely) benign	1 lab	349e2f6fe3
17:78032381 CCDC40 C>T	17	78032381	78032381	C	T	CCDC40	c.1248C>T	NM_017950.3	NP_060420.2:p.(Arg416=)	NC_000017.10:g.78032381C>T	(Likely) benign	1 lab	349e8f89f5
X:64955217 MSN G>A	X	64955217	64955217	G	A	MSN	c.884G>A	NM_002444.2	NP_002435.1:p.(Arg295His)	NC_000023.10:g.64955217G>A	VUS	1 lab	349f133446
X:7035023 PUDP T>C	X	7035023	7035023	T	C	PUDP	c.114A>G	NM_001135565.1	NP_001129037.1:p.(Leu38=)	NC_000023.10:g.7035023T>C	(Likely) benign	1 lab	34a005392d
6:10529843 GCNT2 C>T	6	10529843	10529843	C	T	GCNT2	c.699C>T	NM_145649.4	NP_663624.1:p.(His233=)	NC_000006.11:g.10529843C>T	(Likely) benign	1 lab	34a147bdb6
16:2111902 TSC2 G>A	16	2111902	2111902	G	A	TSC2	c.1150G>A	NM_000548.3	NP_000539.2:p.(Val384Ile)	NC_000016.9:g.2111902G>A	(Likely) benign	1 lab	34a38d4243
11:6650974 DCHS1 C>G	11	6650974	6650974	C	G	DCHS1				NC_000011.9:g.6650974C>G	(Likely) benign	1 lab	34a4415033
17:7749604 KDM6B C>T	17	7749604	7749604	C	T	KDM6B	c.445C>T	NM_001080424.2	NP_001073893.1:p.(Arg149Ter)	NC_000017.10:g.7749604C>T	VUS	1 lab	34a523f6f3
18:46860108 DYM G>A	18	46860108	46860108	G	A	DYM	c.610C>T	NM_017653.4	NP_060123.3:p.(Arg204Ter)	NC_000018.9:g.46860108G>A	(Likely) pathogenic	1 lab	34a848469e
X:37587450 XK T>C	X	37587450	37587450	T	C	XK	c.1070T>C	NM_021083.4	NP_066569.1:p.(Ile357Thr)	NC_000023.10:g.37587450T>C	VUS	1 lab	34aa4efcc7
X:73812431 RLIM C>T	X	73812431	73812431	C	T	RLIM	c.719G>A	NM_183353.2	NP_899196.1:p.(Arg240Gln)	NC_000023.10:g.73812431C>T	VUS	1 lab	34ab315fb9
19:54393236 PRKCG T>A	19	54393236	54393236	T	A	PRKCG	c.494T>A	NM_002739.3	NP_002730.1:p.(Ile165Asn)	NC_000019.9:g.54393236T>A	VUS	1 lab	34ac0b7e5a
X:54491895 FGD1 T>C	X	54491895	54491895	T	C	FGD1	c.1625A>G	NM_004463.2	NP_004454.2:p.(Lys542Arg)	NC_000023.10:g.54491895T>C	VUS	1 lab	34ad07b8b6
18:52895601 TCF4 G>A	18	52895601	52895601	G	A	TCF4	c.1880-9C>T	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.52895601G>A	VUS	1 lab	34ad91f4e0
4:187130112 CYP4V2 T>C	4	187130112	187130112	T	C	CYP4V2	c.1184T>C	NM_207352.3	NP_997235.3:p.(Val395Ala)	NC_000004.11:g.187130112T>C	VUS	1 lab	34aec09aad
X:53574659 HUWE1 G>T	X	53574659	53574659	G	T	HUWE1	c.10611C>A	NM_031407.6	NP_113584.3:p.(Pro3537=)	NC_000023.10:g.53574659G>T	(Likely) benign	1 lab	34d635cfbc
7:105192060 RINT1 C>T	7	105192060	105192060	C	T	RINT1	c.1377C>T	NM_021930.5	NP_068749.3:p.(Ala459=)	NC_000007.13:g.105192060C>T	(Likely) benign	1 lab	34b3156e4f
4:88536472 DSPP C>T	4	88536472	88536472	C	T	DSPP	c.2658C>T	NM_014208.3	NP_055023.2:p.(Asn886=)	NC_000004.11:g.88536472C>T	(Likely) benign	1 lab	34b63a397d
18:29122774 DSG2 G>A	18	29122774	29122774	G	A	DSG2	c.2293G>A	NM_001943.3	NP_001934.2:p.(Val765Ile)	NC_000018.9:g.29122774G>A	VUS	1 lab	34b7ff67c2
X:77126361 MAGT1 T>TG	X	77126361	77126363	T	TG	MAGT1	c.429dup	NM_032121.5	NP_115497.4:p.(Asn144GlnfsTer11)	NC_000023.10:g.77126363dup	(Likely) pathogenic	1 lab	34b80cd787
2:27600471 ZNF513 G>A	2	27600471	27600471	G	A	ZNF513	c.1567C>T	NM_144631.5	NP_653232.3:p.(Arg523Trp)	NC_000002.11:g.27600471G>A	VUS	1 lab	34b9022f7f
12:88520153 CEP290 C>T	12	88520153	88520153	C	T	CEP290	c.1005G>A	NM_025114.3	NP_079390.3:p.(Arg335=)	NC_000012.11:g.88520153C>T	(Likely) benign	1 lab	34bca19b8e
11:67817625 TCIRG1 A>G	11	67817625	67817625	A	G	TCIRG1	c.1246A>G	NM_001351059.1	NP_001337988.1:p.(Met416Val)	NC_000011.9:g.67817625A>G	(Likely) benign	1 lab	34bd48dfdb
1:197404585 CRB1 T>C	1	197404585	197404585	T	C	CRB1	c.3520T>C	NM_001257965.1	NP_001244894.1:p.(Tyr1174His)	NC_000001.10:g.197404585T>C	VUS	1 lab	34bddc5495
1:2340084 PEX10 C>T	1	2340084	2340084	C	T	PEX10	c.407G>A	NM_153818.1	NP_722540.1:p.(Arg136His)	NC_000001.10:g.2340084C>T	(Likely) benign	1 lab	34be3d3efe
14:35873776 NFKBIA TA>T	14	35873776	35873777	TA	T	NFKBIA	c.74del	NM_020529.3	NP_065390.1:p.(Leu25HisfsTer13)	NC_000014.8:g.35873777del	VUS	1 lab	ea807661dd
10:55973766 PCDH15 C>T	10	55973766	55973766	C	T	PCDH15				NC_000010.10:g.55973766C>T	VUS	1 lab	34c5759654
17:48696018 CACNA1G C>T	17	48696018	48696018	C	T	CACNA1G	c.5430C>T	NM_018896.4	NP_061496.2:p.(Asp1810=)	NC_000017.10:g.48696018C>T	(Likely) benign	1 lab	34c629a0f2
17:78184903 SGSH C>T	17	78184903	78184903	C	T	SGSH	c.1033G>A	NM_001352921.1	NP_001339850.1:p.(Gly345Arg)	NC_000017.10:g.78184903C>T	VUS	1 lab	34c6ecb4cd
6:149953961 KATNA1 G>A	6	149953961	149953961	G	A	KATNA1	c.254C>T	NM_007044.4	NP_008975.1:p.(Ala85Val)	NC_000006.11:g.149953961G>A	VUS	1 lab	34c8d74e9b
16:57691305 ADGRG1 C>T	16	57691305	57691305	C	T	ADGRG1	c.1188C>T	NM_005682.6	NP_005673.3:p.(Asp396=)	NC_000016.9:g.57691305C>T	(Likely) benign	1 lab	34ca4ef6e5
15:38795577 RASGRP1 G>A	15	38795577	38795577	G	A	RASGRP1	c.1324C>T	NM_005739.3	NP_005730.2:p.(Pro442Ser)	NC_000015.9:g.38795577G>A	VUS	1 lab	34caee5a10
1:215848102 USH2A C>A	1	215848102	215848102	C	A	USH2A	c.13151G>T	NM_206933.2	NP_996816.2:p.(Gly4384Val)	NC_000001.10:g.215848102C>A	VUS	1 lab	34cb2763f6
X:153594761 FLNA G>A	X	153594761	153594761	G	A	FLNA	c.1143C>T	NM_001110556.2	NP_001104026.1:p.(Ala381=)	NC_000023.10:g.153594761G>A	(Likely) benign	1 lab	34cbb4e9ec
9:27158085 TEK A>C	9	27158085	27158085	A	C	TEK	c.309A>C	NM_000459.4	NP_000450.2:p.(Glu103Asp)	NC_000009.11:g.27158085A>C	(Likely) benign	1 lab	34cbb6e208
2:15374811 NBAS G>A	2	15374811	15374811	G	A	NBAS	c.6004C>T	NM_015909.3	NP_056993.2:p.(His2002Tyr)	NC_000002.11:g.15374811G>A	VUS	1 lab	34e95bd389
14:91739707 CCDC88C CCGGGGTCTGCCCAGAGACAGGCTCTGGGGAGGCTGGGCCTGTCT>C	14	91739707	91739756	CCGGGGTCTGCCCAGAGACAGGCTCTGGGGAGGCTGGGCCTGTCT	C	CCDC88C	c.5305_5348del	NM_001080414.4	NP_001073883.2:p.(Arg1769AlafsTer28)	NC_000014.8:g.91739713_91739756del	VUS	1 lab	34ce0d3ee5
7:100679879 MUC17 C>T	7	100679879	100679879	C	T	MUC17	c.5182C>T	NM_001040105.1	NP_001035194.1:p.(Arg1728Cys)	NC_000007.13:g.100679879C>T	(Likely) benign	1 lab	34cf5528b6
9:135779055 TSC1 C>A	9	135779055	135779055	C	A	TSC1	c.2191G>T	NM_000368.4	NP_000359.1:p.(Glu731Ter)	NC_000009.11:g.135779055C>A	(Likely) pathogenic	1 lab	34cf58b34c
19:55668819 TNNI3 A>G	19	55668819	55668819	A	G	TNNI3	c.11+128T>C	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668819A>G	(Likely) benign	1 lab	34cf89408c
6:72984094 RIMS1 T>A	6	72984094	72984094	T	A	RIMS1	c.3441T>A	NM_014989.5	NP_055804.2:p.(Ser1147Arg)	NC_000006.11:g.72984094T>A	VUS	1 lab	34d03e4512
16:11001969 CIITA G>T	16	11001969	11001969	G	T	CIITA	c.2623G>T	NM_001286402.1	NP_001273331.1:p.(Gly875Trp)	NC_000016.9:g.11001969G>T	VUS	1 lab	34d05e6667
6:56480770 DST G>A	6	56480770	56480770	G	A	DST	c.7495C>T	NM_001723.7	NP_001714.1:p.(Arg2499Trp)	NC_000006.11:g.56480770G>A	VUS	1 lab	ea8283e726
X:153009016 ABCD1 C>T	X	153009016	153009016	C	T	ABCD1	c.2065C>T	NM_000033.3	NP_000024.2:p.(Arg689Cys)	NC_000023.10:g.153009016C>T	VUS	1 lab	34d1739eb7
X:41091757 USP9X C>T	X	41091757	41091757	C	T	USP9X	c.7693C>T	NM_001039590.2	NP_001034679.2:p.(Pro2565Ser)	NC_000023.10:g.41091757C>T	(Likely) benign	1 lab	34d5076038
19:4817690 TICAM1 G>A	19	4817690	4817690	G	A	TICAM1	c.700C>T	NM_182919.3	NP_891549.1:p.(Pro234Ser)	NC_000019.9:g.4817690G>A	VUS	1 lab	34d5598a2c
5:90012543 ADGRV1 C>T	5	90012543	90012543	C	T	ADGRV1	c.9444C>T	NM_032119.4	NP_115495.3:p.(Phe3148=)	NC_000005.9:g.90012543C>T	(Likely) benign	1 lab	34d55b4f68
X:100297127 TRMT2B T>C	X	100297127	100297127	T	C	TRMT2B	c.152A>G	NM_024917.5	NP_079193.2:p.(Asp51Gly)	NC_000023.10:g.100297127T>C	(Likely) benign	1 lab	34d655a2b1
16:15818035 MYH11 GCTT>G	16	15818035	15818041	GCTT	G	MYH11	c.4345_4347del	NM_002474.3	NP_002465.1:p.(Lys1449del)	NC_000016.9:g.15818039_15818041del	VUS	1 lab	34d8167e94
2:189859787 COL3A1 C>T	2	189859787	189859787	C	T	COL3A1	c.1471C>T	NM_000090.3	NP_000081.1:p.(Arg491Ter)	NC_000002.11:g.189859787C>T	(Likely) pathogenic	1 lab	34d8b7ca58
1:22178186 HSPG2 G>A	1	22178186	22178186	G	A	HSPG2	c.7014C>T	NM_001291860.1	NP_001278789.1:p.(Ala2338=)	NC_000001.10:g.22178186G>A	(Likely) benign	1 lab	34d99d3fb4
1:17266424 CROCC A>G	1	17266424	17266424	A	G	CROCC	c.1644A>G	NM_014675.5	NP_055490.4:p.(Leu548=)	NC_000001.10:g.17266424A>G	(Likely) benign	1 lab	34da2d590a
16:2138449 TSC2 C>T	16	2138449	2138449	C	T	TSC2	c.5262C>T	NM_000548.3	NP_000539.2:p.(Ile1754=)	NC_000016.9:g.2138449C>T	(Likely) benign	1 lab	34da40660e
12:52408584 TAMALIN C>A	12	52408584	52408584	C	A	TAMALIN	c.789C>A	NM_181711.3	NP_859062.1:p.(Leu263=)	NC_000012.11:g.52408584C>A	(Likely) benign	1 lab	34dbd066d9
1:103400635 COL11A1 A>G	1	103400635	103400635	A	G	COL11A1	c.3509T>C	NM_080629.2	NP_542196.2:p.(Val1170Ala)	NC_000001.10:g.103400635A>G	(Likely) benign	1 lab	34dc0ecd4a
14:101299671 MEG3 A>G	14	101299671	101299671	A	G	MEG3	n.1049+1800A>G	NR_002766.2		NC_000014.8:g.101299671A>G	VUS	1 lab	ea848658b0
8:145639182 SLC39A4 G>A	8	145639182	145639182	G	A	SLC39A4	c.1296C>T	NM_017767.2	NP_060237.2:p.(Ser432=)	NC_000008.10:g.145639182G>A	VUS	1 lab	34dd84184f
17:1631293 WDR81 G>T	17	1631293	1631293	G	T	WDR81	c.3040G>T	NM_001163809.1	NP_001157281.1:p.(Gly1014Cys)	NC_000017.10:g.1631293G>T	VUS	1 lab	34de28d5d6
16:57485075 COQ9 A>AG	16	57485075	57485080	A	AG	COQ9	c.202dup	NM_020312.3	NP_064708.1:p.(Ala68GlyfsTer5)	NC_000016.9:g.57485080dup	(Likely) pathogenic	1 lab	34dfb5e570
X:102841589 TCEAL4 AGGGGAAATCTCGACATG>A	X	102841589	102841607	AGGGGAAATCTCGACATG	A	TCEAL4	c.-13_4del	NM_001006935.3	NP_001006936.1:p.?	NC_000023.10:g.102841591_102841607del	VUS	1 lab	34e020e122
8:124664964 KLHL38 C>T	8	124664964	124664964	C	T	KLHL38	c.203G>A	NM_001081675.3	NP_001075144.2:p.(Arg68Gln)	NC_000008.10:g.124664964C>T	(Likely) benign	1 lab	34e06c962e
14:68193830 RDH12 A>G	14	68193830	68193830	A	G	RDH12	c.581A>G	NM_152443.2	NP_689656.2:p.(Tyr194Cys)	NC_000014.8:g.68193830A>G	VUS	1 lab	34e1cef198
X:105153686 NRK AAAT>A	X	105153686	105153689	AAAT	A	NRK	c.2054_2056del	NM_198465.4	NP_940867.2:p.(Lys685_Ser686delinsThr)	NC_000023.10:g.105153687_105153689del	(Likely) benign	1 lab	34e312dc0f
X:130410078 IGSF1 C>T	X	130410078	130410078	C	T	IGSF1	c.2768G>A	NM_001170961.1	NP_001164432.1:p.(Arg923Gln)	NC_000023.10:g.130410078C>T	(Likely) benign	1 lab	34e368998e
X:153132228 L1CAM G>A	X	153132228	153132228	G	A	L1CAM	c.2307C>T	NM_000425.4	NP_000416.1:p.(Ser769=)	NC_000023.10:g.153132228G>A	(Likely) benign	1 lab	34e5000c9e
2:179468771 TTN G>A	2	179468771	179468771	G	A	TTN	c.54643C>T	NM_001267550.1	NP_001254479.1:p.(Arg18215Cys)	NC_000002.11:g.179468771G>A	VUS	1 lab	34e72e9529
16:1402007 GNPTG T>C	16	1402007	1402007	T	C	GNPTG	c.41T>C	NM_032520.4	NP_115909.1:p.(Leu14Pro)	NC_000016.9:g.1402007T>C	(Likely) benign	1 lab	34e779fb95
20:10393200 MKKS C>T	20	10393200	10393200	C	T	MKKS	c.963G>A	NM_018848.3	NP_061336.1:p.(Met321Ile)	NC_000020.10:g.10393200C>T	VUS	1 lab	34e7f5143c
11:66327763 ACTN3 A>G	11	66327763	66327763	A	G	ACTN3	c.1787A>G	NM_001258371.2	NP_001245300.2:p.(His596Arg)	NC_000011.9:g.66327763A>G	VUS	1 lab	34e8d5bde3
17:29527615 NF1 T>C	17	29527615	29527615	T	C	NF1	c.1062+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29527615T>C	(Likely) pathogenic	1 lab	34e94069a9
5:147498014 SPINK5 G>A	5	147498014	147498014	G	A	SPINK5	c.2127G>A	NM_001127698.1	NP_001121170.1:p.(Glu709=)	NC_000005.9:g.147498014G>A	(Likely) benign	1 lab	34e95c15f1
16:88789313 PIEZO1 G>A	16	88789313	88789313	G	A	PIEZO1	c.4600C>T	NM_001142864.4	NP_001136336.2:p.(Arg1534Trp)	NC_000016.9:g.88789313G>A	VUS	1 lab	34e9dd0bdf
12:52711549 KRT83 G>T	12	52711549	52711549	G	T	KRT83	c.666C>A	NM_002282.3	NP_002273.3:p.(Cys222Ter)	NC_000012.11:g.52711549G>T	(Likely) benign	1 lab	34eb15b1d2
18:67742801 RTTN G>A	18	67742801	67742801	G	A	RTTN	c.4375-24C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67742801G>A	(Likely) benign	1 lab	34eb6728ea
1:237729896 RYR2 G>A	1	237729896	237729896	G	A	RYR2	c.3244G>A	NM_001035.2	NP_001026.2:p.(Gly1082Arg)	NC_000001.10:g.237729896G>A	(Likely) benign	1 lab	34eb8a00dd
22:38119754 TRIOBP TCAA>T	22	38119754	38119758	TCAA	T	TRIOBP	c.1193_1195del	NM_001039141.3	NP_001034230.1:p.(Gln398del)	NC_000022.10:g.38119756_38119758del	(Likely) benign	1 lab	34ed81fdb8
X:19560219 SH3KBP1 G>C	X	19560219	19560219	G	C	SH3KBP1	c.1791C>G	NM_001353891.1	NP_001340820.1:p.(Ser597=)	NC_000023.10:g.19560219G>C	(Likely) benign	1 lab	34edd24a4d
22:35713929 TOM1 G>A	22	35713929	35713929	G	A	TOM1	c.112G>A	NM_001135732.1	NP_001129204.1:p.(Asp38Asn)	NC_000022.10:g.35713929G>A	VUS	1 lab	34ef58a430
2:179406168 TTN A>G	2	179406168	179406168	A	G	TTN	c.97636T>C	NM_001267550.1	NP_001254479.1:p.(Trp32546Arg)	NC_000002.11:g.179406168A>G	VUS	1 lab	34f19f8c79
17:40695718 NAGLU G>A	17	40695718	40695718	G	A	NAGLU	c.1694G>A	NM_000263.3	NP_000254.2:p.(Arg565Gln)	NC_000017.10:g.40695718G>A	(Likely) pathogenic	1 lab	34f33d2fdf
15:57924721 MYZAP A>G	15	57924721	57924721	A	G	MYZAP	c.768A>G	NM_001018100.5	NP_001018110.1:p.(Glu256=)	NC_000015.9:g.57924721A>G	(Likely) benign	1 lab	ea89064a34
1:27320726 TRNP1 G>A	1	27320726	27320726	G	A	TRNP1	c.449G>A	NM_001013642.3	NP_001013664.2:p.(Arg150His)	NC_000001.10:g.27320726G>A	VUS	1 lab	34f6352924
X:47483756 CFP T>C	X	47483756	47483756	T	C	CFP	c.1328A>G	NM_002621.2	NP_002612.1:p.(Gln443Arg)	NC_000023.10:g.47483756T>C	VUS	1 lab	34f6cd33f8
15:23889887 MAGEL2 C>G	15	23889887	23889887	C	G	MAGEL2	c.3003G>C	NM_019066.4	NP_061939.3:p.(Pro1001=)	NC_000015.9:g.23889887C>G	(Likely) benign	1 lab	34f6e1cc9b
18:77474635 CTDP1 C>G	18	77474635	77474635	C	G	CTDP1	c.1175C>G	NM_004715.4	NP_004706.3:p.(Pro392Arg)	NC_000018.9:g.77474635C>G	VUS	1 lab	34f761a790
5:169507259 DOCK2 T>C	5	169507259	169507259	T	C	DOCK2	c.5259T>C	NM_004946.3	NP_004937.1:p.(Phe1753=)	NC_000005.9:g.169507259T>C	(Likely) benign	1 lab	34f95aefc0
9:117845056 TNC T>C	9	117845056	117845056	T	C	TNC	c.2162A>G	NM_002160.3	NP_002151.2:p.(Lys721Arg)	NC_000009.11:g.117845056T>C	VUS	1 lab	34f97cde6d
12:109703014 ACACB G>A	12	109703014	109703014	G	A	ACACB	c.7042G>A	NM_001093.3	NP_001084.3:p.(Gly2348Arg)	NC_000012.11:g.109703014G>A	(Likely) benign	1 lab	34fa5b6597
17:76556989 DNAH17 T>C	17	76556989	76556989	T	C	DNAH17	c.1864A>G	NM_173628.3	NP_775899.3:p.(Thr622Ala)	NC_000017.10:g.76556989T>C	(Likely) benign	1 lab	34fbfbcef1
5:35025899 AGXT2 C>T	5	35025899	35025899	C	T	AGXT2	c.932G>A	NM_031900.4	NP_114106.1:p.(Arg311Gln)	NC_000005.9:g.35025899C>T	VUS	1 lab	34feedfb68
14:91755506 CCDC88C C>T	14	91755506	91755506	C	T	CCDC88C	c.4384G>A	NM_001080414.3	NP_001073883.2:p.(Ala1462Thr)	NC_000014.8:g.91755506C>T	(Likely) benign	1 lab	34ffd41e7d
11:6654882 DCHS1 G>A	11	6654882	6654882	G	A	DCHS1				NC_000011.9:g.6654882G>A	(Likely) benign	1 lab	350095f9bf
17:78081655 GAA G>A	17	78081655	78081655	G	A	GAA	c.915G>A	NM_000152.3	NP_000143.2:p.(Gly305=)	NC_000017.10:g.78081655G>A	(Likely) benign	1 lab	350109b0d6
14:76548949 IFT43 CT>C	14	76548949	76548952	CT	C	IFT43	c.369-8del	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76548952del	(Likely) benign	1 lab	3501d3ef39
2:105472953 POU3F3 TTCAAGCAGCGGCGCA>T	2	105472953	105472974	TTCAAGCAGCGGCGCA	T	POU3F3	c.992_1006del	NM_006236.3	NP_006227.1:p.(Gln331_Lys335del)	NC_000002.11:g.105472960_105472974del	(Likely) pathogenic	1 lab	350210a69b
4:187557777 FAT1 T>C	4	187557777	187557777	T	C	FAT1	c.3934A>G	NM_005245.3	NP_005236.2:p.(Lys1312Glu)	NC_000004.11:g.187557777T>C	VUS	1 lab	3502398eea
1:215802302 USH2A G>A	1	215802302	215802302	G	A	USH2A	c.15373C>T	NM_206933.2	NP_996816.2:p.(Arg5125Cys)	NC_000001.10:g.215802302G>A	VUS	1 lab	3507395707
2:135893270 RAB3GAP1 C>G	2	135893270	135893270	C	G	RAB3GAP1	c.1691C>G	NM_001172435.2	NP_001165906.1:p.(Thr564Arg)	NC_000002.11:g.135893270C>G	VUS	1 lab	ea8929dd1b
18:67809516 RTTN G>A	18	67809516	67809516	G	A	RTTN	c.2581+8C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67809516G>A	(Likely) benign	1 lab	3507c6b2fc
5:127607774 FBN2 T>C	5	127607774	127607774	T	C	FBN2	c.7877A>G	NM_001999.3	NP_001990.2:p.(His2626Arg)	NC_000005.9:g.127607774T>C	VUS	1 lab	350869d5c1
21:47838123 PCNT A>G	21	47838123	47838123	A	G	PCNT	c.6927A>G	NM_006031.5	NP_006022.3:p.(Lys2309=)	NC_000021.8:g.47838123A>G	(Likely) benign	1 lab	350936f0a0
21:34715933 IFNAR1 G>A	21	34715933	34715933	G	A	IFNAR1	c.624G>A	NM_000629.3	NP_000620.2:p.(Thr208=)	NC_000021.8:g.34715933G>A	(Likely) benign	1 lab	3509446412
20:23028822 THBD C>T	20	23028822	23028822	C	T	THBD	c.1320G>A	NM_000361.2	NP_000352.1:p.(Thr440=)	NC_000020.10:g.23028822C>T	(Likely) benign	1 lab	35095f092d
18:21404537 LAMA3 T>G	18	21404537	21404537	T	G	LAMA3	c.2571+8T>G	NM_198129.2	NP_937762.2:p.?	NC_000018.9:g.21404537T>G	(Likely) benign	1 lab	350e5d03d0
2:179558690 TTN A>G	2	179558690	179558690	A	G	TTN	c.31472T>C	NM_001267550.1	NP_001254479.1:p.(Met10491Thr)	NC_000002.11:g.179558690A>G	VUS	1 lab	350f6fb43f
15:74481585 STRA6 T>G	15	74481585	74481585	T	G	STRA6	c.1078A>C	NM_001199042.1	NP_001185971.1:p.(Thr360Pro)	NC_000015.9:g.74481585T>G	VUS	1 lab	3510027090
X:50557000 SHROOM4 A>C	X	50557000	50557000	A	C	SHROOM4	c.19T>G	NM_020717.3	NP_065768.2:p.(Ser7Ala)	NC_000023.10:g.50557000A>C	VUS	1 lab	351076b022
1:27676172 SYTL1 T>A	1	27676172	27676172	T	A	SYTL1	c.663T>A	NM_001193308.2	NP_001180237.1:p.(Asn221Lys)	NC_000001.10:g.27676172T>A	VUS	1 lab	351154a408
9:34649053 GALT C>T	9	34649053	34649053	C	T	GALT	c.879C>T	NM_000155.3	NP_000146.2:p.(Ser293=)	NC_000009.11:g.34649053C>T	(Likely) benign	1 lab	3512f3b14c
19:33465099 FAAP24 C>T	19	33465099	33465099	C	T	FAAP24	c.377C>T	NM_152266.4	NP_689479.1:p.(Ser126Phe)	NC_000019.9:g.33465099C>T	(Likely) benign	1 lab	3513e33d33
2:170063416 LRP2 G>A	2	170063416	170063416	G	A	LRP2	c.6814C>T	NM_004525.3	NP_004516.2:p.(Arg2272Cys)	NC_000002.11:g.170063416G>A	VUS	1 lab	ea8d710514
10:90768641 FAS T>C	10	90768641	90768641	T	C	FAS	c.335-5T>C	NM_152872.3	NP_690611.1:p.?	NC_000010.10:g.90768641T>C	(Likely) benign	1 lab	351750b24e
4:5570221 EVC2 G>A	4	5570221	5570221	G	A	EVC2	c.3267C>T	NM_001166136.2	NP_001159608.1:p.(His1089=)	NC_000004.11:g.5570221G>A	(Likely) benign	1 lab	ea8d99e0e0
14:91739814 CCDC88C C>T	14	91739814	91739814	C	T	CCDC88C	c.5242G>A	NM_001080414.3	NP_001073883.2:p.(Gly1748Arg)	NC_000014.8:g.91739814C>T	VUS	1 lab	3518886349
1:152190308 HRNR C>T	1	152190308	152190308	C	T	HRNR	c.3797G>A	NM_001009931.2	NP_001009931.1:p.(Gly1266Asp)	NC_000001.10:g.152190308C>T	(Likely) benign	1 lab	3518a1e647
3:21552505 ZNF385D G>A	3	21552505	21552505	G	A	ZNF385D	c.287C>T	NM_024697.3	NP_078973.1:p.(Ala96Val)	NC_000003.11:g.21552505G>A	VUS	1 lab	3518aceef5
10:100185701 HPS1 A>G	10	100185701	100185701	A	G	HPS1	c.57T>C	NM_001322487.1	NP_001309416.1:p.(Pro19=)	NC_000010.10:g.100185701A>G	(Likely) benign	1 lab	351b92dafc
9:130502158 SH2D3C G>A	9	130502158	130502158	G	A	SH2D3C	c.2210C>T	NM_170600.2	NP_733745.1:p.(Pro737Leu)	NC_000009.11:g.130502158G>A	VUS	1 lab	351bee447a
1:10195082 UBE4B C>T	1	10195082	10195082	C	T	UBE4B	c.2062C>T	NM_001105562.3	NP_001099032.1:p.(Leu688=)	NC_000001.10:g.10195082C>T	(Likely) benign	1 lab	351ded59ea
16:16291974 ABCC6 G>A	16	16291974	16291974	G	A	ABCC6	c.900C>T	NM_001351800.1	NP_001338729.1:p.(Ser300=)	NC_000016.9:g.16291974G>A	(Likely) benign	1 lab	351e235fc8
1:151400705 POGZ G>A	1	151400705	151400705	G	A	POGZ	c.753C>T	NM_015100.3	NP_055915.2:p.(Ser251=)	NC_000001.10:g.151400705G>A	(Likely) benign	1 lab	351e3bfedc
14:61115631 SIX1 C>T	14	61115631	61115631	C	T	SIX1	c.277G>A	NM_005982.3	NP_005973.1:p.(Val93Met)	NC_000014.8:g.61115631C>T	VUS	1 lab	351eb02bfe
10:115922612 CCDC186 C>T	10	115922612	115922612	C	T	CCDC186	c.416G>A	NM_018017.4	NP_060487.2:p.(Ser139Asn)	NC_000010.10:g.115922612C>T	VUS	1 lab	ea8f91d82a
7:142458972 PRSS1 T>C	7	142458972	142458972	T	C	PRSS1	c.200+407T>C	NM_002769.5	NP_002760.1:p.?	NC_000007.13:g.142458972T>C	(Likely) benign	1 lab	ea90659fc4
2:210761128 UNC80 G>A	2	210761128	210761128	G	A	UNC80	c.4374G>A	NM_032504.1	NP_115893.1:p.(Ser1458=)	NC_000002.11:g.210761128G>A	(Likely) benign	1 lab	3523e486ef
1:103364277 COL11A1 T>G	1	103364277	103364277	T	G	COL11A1	c.4229A>C	NM_080629.2	NP_542196.2:p.(Gln1410Pro)	NC_000001.10:g.103364277T>G	VUS	1 lab	3524fa579d
19:2129447 AP3D1 G>A	19	2129447	2129447	G	A	AP3D1	c.602C>T	NM_001261826.3	NP_001248755.1:p.(Ser201Leu)	NC_000019.9:g.2129447G>A	VUS	1 lab	35259be57c
9:112898423 PALM2AKAP2 C>T	9	112898423	112898423	C	T	PALM2AKAP2	c.173C>T	NM_001198656.1	NP_001185585.1:p.(Ser58Phe)	NC_000009.11:g.112898423C>T	VUS	1 lab	3526a2165f
7:19156604 TWIST1 T>C	7	19156604	19156604	T	C	TWIST1	c.341A>G	NM_000474.3	NP_000465.1:p.(Asn114Ser)	NC_000007.13:g.19156604T>C	(Likely) pathogenic	1 lab	35275b0d7a
16:732418 STUB1 A>T	16	732418	732418	A	T	STUB1	c.841A>T	NM_005861.3	NP_005852.2:p.(Ile281Phe)	NC_000016.9:g.732418A>T	VUS	1 lab	352832cff5
X:153296340 MECP2 G>A	X	153296340	153296340	G	A	MECP2	c.939C>T	NM_004992.3	NP_004983.1:p.(Ser313=)	NC_000023.10:g.153296340G>A	VUS	1 lab	352839e035
9:135801050 TSC1 A>G	9	135801050	135801050	A	G	TSC1	c.287T>C	NM_000368.4	NP_000359.1:p.(Val96Ala)	NC_000009.11:g.135801050A>G	VUS	1 lab	35283e533e
1:46657826 POMGNT1 C>T	1	46657826	46657826	C	T	POMGNT1	c.1483G>A	NM_001243766.1	NP_001230695.1:p.(Val495Ile)	NC_000001.10:g.46657826C>T	VUS	1 lab	3528883453
X:71359952 NHSL2 G>A	X	71359952	71359952	G	A	NHSL2	c.2554G>A	NM_001013627.2	NP_001013649.2:p.(Glu852Lys)	NC_000023.10:g.71359952G>A	VUS	1 lab	352b338b6e
6:33147070 COL11A2 G>C	6	33147070	33147070	G	C	COL11A2	c.1504-9C>G	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33147070G>C	(Likely) benign	1 lab	352bc5e305
15:64592577 CSNK1G1 C>T	15	64592577	64592577	C	T	CSNK1G1	c.122G>A	NM_022048.5	NP_071331.2:p.(Gly41Glu)	NC_000015.9:g.64592577C>T	VUS	1 lab	ea93a7abb0
1:11317320 MTOR C>T	1	11317320	11317320	C	T	MTOR	c.272-98G>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11317320C>T	(Likely) benign	1 lab	53e518deb6
X:117043955 KLHL13 T>C	X	117043955	117043955	T	C	KLHL13	c.675A>G	NM_033495.3	NP_277030.2:p.(Ala225=)	NC_000023.10:g.117043955T>C	(Likely) benign	1 lab	352c7a80f3
X:57473443 FAAH2 G>T	X	57473443	57473443	G	T	FAAH2	c.1199G>T	NM_174912.3	NP_777572.2:p.(Gly400Val)	NC_000023.10:g.57473443G>T	VUS	1 lab	352f16dad0
17:29548950 NF1 A>C	17	29548950	29548950	A	C	NF1	c.1721+3A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548950A>C	(Likely) pathogenic	1 lab	352f893d4f
9:20781774 FOCAD C>G	9	20781774	20781774	C	G	FOCAD	c.1043C>G	NM_017794.4	NP_060264.4:p.(Ser348Cys)	NC_000009.11:g.20781774C>G	(Likely) benign	1 lab	3531bc963d
6:49574638 RHAG T>A	6	49574638	49574638	T	A	RHAG	c.1139-4A>T	NM_000324.3	NP_000315.2:p.?	NC_000006.11:g.49574638T>A	(Likely) benign	1 lab	ea976bd270
5:169469022 DOCK2 G>C	5	169469022	169469022	G	C	DOCK2	c.3762G>C	NM_004946.3	NP_004937.1:p.(Ser1254=)	NC_000005.9:g.169469022G>C	(Likely) benign	1 lab	3532fc1908
1:237791088 RYR2 A>G	1	237791088	237791088	A	G	RYR2	c.6167-19A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237791088A>G	(Likely) benign	1 lab	ea9993a434
9:135781043 TSC1 G>T	9	135781043	135781043	G	T	TSC1	c.1922C>A	NM_000368.4	NP_000359.1:p.(Pro641His)	NC_000009.11:g.135781043G>T	(Likely) benign	1 lab	3534d39d10
10:6060023 IL2RA G>A	10	6060023	6060023	G	A	IL2RA	c.787C>T	NM_000417.2	NP_000408.1:p.(Arg263Trp)	NC_000010.10:g.6060023G>A	VUS	1 lab	3535850ee9
14:51223734 NIN G>A	14	51223734	51223734	G	A	NIN	c.4014C>T	NM_020921.3	NP_065972.3:p.(Ser1338=)	NC_000014.8:g.51223734G>A	(Likely) benign	1 lab	3535d919ee
12:53186110 KRT3 C>T	12	53186110	53186110	C	T	KRT3	c.1101G>A	NM_057088.2	NP_476429.2:p.(Leu367=)	NC_000012.11:g.53186110C>T	(Likely) benign	1 lab	35370c47ce
10:26377331 MYO3A C>T	10	26377331	26377331	C	T	MYO3A	c.1559C>T	NM_017433.5	NP_059129.3:p.(Ala520Val)	NC_000010.10:g.26377331C>T	VUS	1 lab	35372ee15c
2:179484952 TTN T>G	2	179484952	179484952	T	G	TTN	c.46296A>C	NM_001267550.1	NP_001254479.1:p.(Glu15432Asp)	NC_000002.11:g.179484952T>G	VUS	1 lab	35387d6cc9
1:29543155 MECR G>A	1	29543155	29543155	G	A	MECR	c.324C>T	NM_001349715.1	NP_001336644.1:p.(Val108=)	NC_000001.10:g.29543155G>A	(Likely) benign	1 lab	3539ae29f4
10:123276833 FGFR2 C>T	10	123276833	123276833	C	T	FGFR2	c.1084G>A	NM_000141.4	NP_000132.3:p.(Ala362Thr)	NC_000010.10:g.123276833C>T	(Likely) pathogenic	1 lab	353a31e527
2:128390896 MYO7B C>T	2	128390896	128390896	C	T	MYO7B	c.5391C>T	NM_001080527.1	NP_001073996.1:p.(Ser1797=)	NC_000002.11:g.128390896C>T	(Likely) benign	1 lab	353a711624
7:47882639 PKD1L1 T>C	7	47882639	47882639	T	C	PKD1L1	c.5366A>G	NM_138295.4	NP_612152.1:p.(Glu1789Gly)	NC_000007.13:g.47882639T>C	VUS	1 lab	353c694a16
9:14776081 FREM1 G>T	9	14776081	14776081	G	T	FREM1	c.4563C>A	NM_144966.5	NP_659403.4:p.(Ala1521=)	NC_000009.11:g.14776081G>T	(Likely) benign	1 lab	353c92ff60
11:95546750 CEP57 A>G	11	95546750	95546750	A	G	CEP57				NC_000011.9:g.95546750A>G	(Likely) benign	1 lab	353d18b3dd
16:2112993 TSC2 T>TGC	16	2112993	2112997	T	TGC	TSC2	c.1385_1386dup	NM_000548.3	NP_000539.2:p.(Ile463AlafsTer23)	NC_000016.9:g.2112996_2112997dup	(Likely) pathogenic	1 lab	353effb937
9:134312033 PRRC2B C>T	9	134312033	134312033	C	T	PRRC2B	c.320C>T	NM_013318.3	NP_037450.2:p.(Pro107Leu)	NC_000009.11:g.134312033C>T	VUS	1 lab	35400a18c2
10:88683397 BMPR1A A>G	10	88683397	88683397	A	G	BMPR1A	c.1520A>G	NM_004329.2	NP_004320.2:p.(Asn507Ser)	NC_000010.10:g.88683397A>G	(Likely) benign	1 lab	354081eeee
2:48033720 MSH6 G>GAAGT	2	48033720	48033724	G	GAAGT	MSH6	c.3932_3935dup	NM_000179.2	NP_000170.1:p.(Ile1313SerfsTer7)	NC_000002.11:g.48033721_48033724dup	(Likely) pathogenic	1 lab	35416c50ce
7:117305596 CFTR T>C	7	117305596	117305596	T	C	CFTR	c.4220T>C	NM_000492.3	NP_000483.3:p.(Met1407Thr)	NC_000007.13:g.117305596T>C	VUS	1 lab	3543423b7e
1:45407298 EIF2B3 C>T	1	45407298	45407298	C	T	EIF2B3	c.334G>A	NM_020365.4	NP_065098.1:p.(Val112Ile)	NC_000001.10:g.45407298C>T	VUS	1 lab	3544a437df
1:207642025 CR2 C>T	1	207642025	207642025	C	T	CR2	c.599C>T	NM_001006658.2	NP_001006659.1:p.(Ser200Leu)	NC_000001.10:g.207642025C>T	VUS	1 lab	35455cd975
10:124800555 ACADSB AT>A	10	124800555	124800561	AT	A	ACADSB	c.511-164del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124800561del	(Likely) benign	1 lab	354794c094
6:76660558 IMPG1 C>T	6	76660558	76660558	C	T	IMPG1	c.1545G>A	NM_001563.3	NP_001554.2:p.(Met515Ile)	NC_000006.11:g.76660558C>T	(Likely) benign	1 lab	354c4a661b
17:56292090 MKS1 G>A	17	56292090	56292090	G	A	MKS1	c.515+12C>T	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56292090G>A	VUS	1 lab	354c4c0755
20:46280019 NCOA3 T>C	20	46280019	46280019	T	C	NCOA3	c.3945T>C	NM_181659.2	NP_858045.1:p.(Tyr1315=)	NC_000020.10:g.46280019T>C	(Likely) benign	1 lab	354cd7b611
6:53140033 ELOVL5 G>A	6	53140033	53140033	G	A	ELOVL5	c.351C>T	NM_001301856.1	NP_001288785.1:p.(Tyr117=)	NC_000006.11:g.53140033G>A	(Likely) benign	1 lab	354d375484
3:46899726 MYL3 C>T	3	46899726	46899726	C	T	MYL3	c.*8G>A	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899726C>T	VUS	1 lab	354f33da9a
7:6031671 PMS2 A>C	7	6031671	6031671	A	C	PMS2	c.921T>G	NM_000535.5	NP_000526.1:p.(Asn307Lys)	NC_000007.13:g.6031671A>C	VUS	1 lab	354f47212f
17:29559149 NF1 C>T	17	29559149	29559149	C	T	NF1	c.3256C>T	NM_000267.3	NP_000258.1:p.(Gln1086Ter)	NC_000017.10:g.29559149C>T	(Likely) pathogenic	1 lab	35501da534
X:102192280 RAB40AL G>A	X	102192280	102192280	G	A	RAB40AL	c.34G>A	NM_001031834.1	NP_001027004.1:p.(Asp12Asn)	NC_000023.10:g.102192280G>A	VUS	1 lab	3550d3dd55
11:134015841 JAM3 G>A	11	134015841	134015841	G	A	JAM3	c.613G>A	NM_032801.4	NP_116190.3:p.(Val205Met)	NC_000011.9:g.134015841G>A	VUS	1 lab	35514ff369
16:81939094 PLCG2 G>A	16	81939094	81939094	G	A	PLCG2	c.1449G>A	NM_002661.3	NP_002652.2:p.(Met483Ile)	NC_000016.9:g.81939094G>A	(Likely) benign	1 lab	35540b41b1
14:45623200 FANCM A>T	14	45623200	45623200	A	T	FANCM	c.1128A>T	NM_020937.2	NP_065988.1:p.(Gln376His)	NC_000014.8:g.45623200A>T	VUS	1 lab	3554f79c17
4:27019429 STIM2 C>T	4	27019429	27019429	C	T	STIM2	c.1586C>T	NM_001169117.1	NP_001162588.1:p.(Ala529Val)	NC_000004.11:g.27019429C>T	(Likely) benign	1 lab	35550124c0
17:7906507 GUCY2D C>T	17	7906507	7906507	C	T	GUCY2D	c.142C>T	NM_000180.3	NP_000171.1:p.(Pro48Ser)	NC_000017.10:g.7906507C>T	(Likely) benign	1 lab	35557374ee
5:76714197 PDE8B G>A	5	76714197	76714197	G	A	PDE8B	c.2055G>A	NM_003719.3	NP_003710.1:p.(Glu685=)	NC_000005.9:g.76714197G>A	(Likely) benign	1 lab	3555c0c21e
15:85326431 ZNF592 C>T	15	85326431	85326431	C	T	ZNF592	c.525C>T	NM_014630.2	NP_055445.2:p.(Cys175=)	NC_000015.9:g.85326431C>T	(Likely) benign	1 lab	3555cf5cba
3:52389033 DNAH1 C>T	3	52389033	52389033	C	T	DNAH1	c.3655C>T	NM_015512.4	NP_056327.4:p.(Arg1219Cys)	NC_000003.11:g.52389033C>T	VUS	1 lab	3556e02231
1:234743271 IRF2BP2 G>A	1	234743271	234743271	G	A	IRF2BP2	c.1376C>T	NM_182972.3	NP_892017.2:p.(Pro459Leu)	NC_000001.10:g.234743271G>A	(Likely) benign	1 lab	eaa0feb5a3
8:6302026 MCPH1 T>A	8	6302026	6302026	T	A	MCPH1	c.783T>A	NM_024596.4	NP_078872.2:p.(Asp261Glu)	NC_000008.10:g.6302026T>A	(Likely) benign	1 lab	355feb0ca5
20:33539589 GSS C>T	20	33539589	33539589	C	T	GSS	c.67G>A	NM_001322495.1	NP_001309424.1:p.(Val23Met)	NC_000020.10:g.33539589C>T	(Likely) benign	1 lab	356213155b
X:3241699 MXRA5 G>A	X	3241699	3241699	G	A	MXRA5	c.2027C>T	NM_015419.3	NP_056234.2:p.(Pro676Leu)	NC_000023.10:g.3241699G>A	(Likely) benign	1 lab	35627cb400
X:49048005 SYP G>T	X	49048005	49048005	G	T	SYP	c.831C>A	NM_003179.2	NP_003170.1:p.(Asp277Glu)	NC_000023.10:g.49048005G>T	VUS	1 lab	3563e4120a
19:18174788 IL12RB1 T>C	19	18174788	18174788	T	C	IL12RB1	c.1636A>G	NM_001290024.1	NP_001276953.1:p.(Thr546Ala)	NC_000019.9:g.18174788T>C	VUS	1 lab	3564e49cf9
X:53457693 RIBC1 G>T	X	53457693	53457693	G	T	RIBC1	c.1013G>T	NM_001031745.4	NP_001026915.1:p.(Gly338Val)	NC_000023.10:g.53457693G>T	VUS	1 lab	3565b7f71b
4:39217538 WDR19 C>T	4	39217538	39217538	C	T	WDR19	c.1039C>T	NM_025132.3	NP_079408.3:p.(Leu347=)	NC_000004.11:g.39217538C>T	(Likely) benign	1 lab	35672f0e48
7:116399407 MET C>T	7	116399407	116399407	C	T	MET	c.2281C>T	NM_001127500.1	NP_001120972.1:p.(Pro761Ser)	NC_000007.13:g.116399407C>T	(Likely) benign	1 lab	356886f61b
10:53564378 PRKG1 G>A	10	53564378	53564378	G	A	PRKG1	c.581G>A	NM_001098512.3	NP_001091982.1:p.(Arg194Gln)	NC_000010.10:g.53564378G>A	VUS	1 lab	356c3d7d96
9:140919416 CACNA1B C>G	9	140919416	140919416	C	G	CACNA1B	c.3078C>G	NM_000718.3	NP_000709.1:p.(His1026Gln)	NC_000009.11:g.140919416C>G	(Likely) benign	1 lab	356ef237d7
X:3240190 MXRA5 G>A	X	3240190	3240190	G	A	MXRA5	c.3536C>T	NM_015419.3	NP_056234.2:p.(Thr1179Ile)	NC_000023.10:g.3240190G>A	(Likely) benign	1 lab	357169aa71
6:152651431 SYNE1 C>T	6	152651431	152651431	C	T	SYNE1	c.14389G>A	NM_182961.3	NP_892006.3:p.(Val4797Ile)	NC_000006.11:g.152651431C>T	(Likely) benign	1 lab	3571830d44
5:176315475 HK3 A>G	5	176315475	176315475	A	G	HK3	c.1162T>C	NM_002115.2	NP_002106.2:p.(Cys388Arg)	NC_000005.9:g.176315475A>G	VUS	1 lab	3571dcc7ab
X:153609312 EMD A>T	X	153609312	153609312	A	T	EMD	c.520A>T	NM_000117.2	NP_000108.1:p.(Arg174Trp)	NC_000023.10:g.153609312A>T	VUS	1 lab	3571f87bd6
9:103035181 INVS G>A	9	103035181	103035181	G	A	INVS	c.1319G>A	NM_001318381.1	NP_001305310.1:p.(Arg440His)	NC_000009.11:g.103035181G>A	VUS	1 lab	35732dc3bc
11:1273675 MUC5B C>T	11	1273675	1273675	C	T	MUC5B	c.14966C>T	NM_002458.2	NP_002449.2:p.(Ser4989Phe)	NC_000011.9:g.1273675C>T	VUS	1 lab	3573b5e8bf
18:29172979 TTR T>C	18	29172979	29172979	T	C	TTR	c.190T>C	NM_000371.3	NP_000362.1:p.(Phe64Leu)	NC_000018.9:g.29172979T>C	VUS	1 lab	3573ea8dc7
1:247588287 NLRP3 C>T	1	247588287	247588287	C	T	NLRP3	c.1536C>T	NM_001243133.1	NP_001230062.1:p.(Cys512=)	NC_000001.10:g.247588287C>T	(Likely) benign	1 lab	3574ade3fa
1:31447657 PUM1 T>C	1	31447657	31447657	T	C	PUM1	c.1355-8A>G	NM_001020658.1	NP_001018494.1:p.?	NC_000001.10:g.31447657T>C	(Likely) benign	1 lab	3575dd1fb1
5:150947390 FAT2 C>T	5	150947390	150947390	C	T	FAT2	c.1103G>A	NM_001447.2	NP_001438.1:p.(Arg368Lys)	NC_000005.9:g.150947390C>T	VUS	1 lab	35768ff3a8
17:3422032 TRPV3 G>A	17	3422032	3422032	G	A	TRPV3	c.1923C>T	NM_001258205.2	NP_001245134.1:p.(Asp641=)	NC_000017.10:g.3422032G>A	(Likely) benign	1 lab	eaa2a67e2c
X:77126356 MAGT1 C>T	X	77126356	77126356	C	T	MAGT1	c.339G>A	NM_001367916.1	NP_001354845.1:p.(Arg113=)	NC_000023.10:g.77126356C>T	(Likely) benign	1 lab	3577e99c92
20:3215432 SLC4A11 C>A	20	3215432	3215432	C	A	SLC4A11	c.326G>T	NM_001174090.1	NP_001167561.1:p.(Arg109Leu)	NC_000020.10:g.3215432C>A	(Likely) benign	1 lab	35789785c1
1:120539948 NOTCH2 C>T	1	120539948	120539948	C	T	NOTCH2	c.423G>A	NM_024408.3	NP_077719.2:p.(Glu141=)	NC_000001.10:g.120539948C>T	(Likely) benign	1 lab	357cfb3069
18:67759905 RTTN C>T	18	67759905	67759905	C	T	RTTN	c.4032+7G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67759905C>T	(Likely) benign	1 lab	357e0e8888
1:186140545 HMCN1 T>A	1	186140545	186140545	T	A	HMCN1	c.15651T>A	NM_031935.2	NP_114141.2:p.(Cys5217Ter)	NC_000001.10:g.186140545T>A	VUS	1 lab	358035782b
8:6302736 MCPH1 G>C	8	6302736	6302736	G	C	MCPH1	c.1493G>C	NM_001322042.1	NP_001308971.1:p.(Cys498Ser)	NC_000008.10:g.6302736G>C	(Likely) benign	1 lab	3580d9a9b5
9:34648988 GALT A>G	9	34648988	34648988	A	G	GALT	c.821-7A>G	NM_000155.3	NP_000146.2:p.?	NC_000009.11:g.34648988A>G	VUS	1 lab	358213db8b
X:152991570 ABCD1 C>T	X	152991570	152991570	C	T	ABCD1	c.849C>T	NM_000033.3	NP_000024.2:p.(His283=)	NC_000023.10:g.152991570C>T	(Likely) benign	1 lab	35824a2632
2:202590117 ALS2 A>G	2	202590117	202590117	A	G	ALS2	c.3309T>C	NM_020919.3	NP_065970.2:p.(His1103=)	NC_000002.11:g.202590117A>G	(Likely) benign	1 lab	35826c23a2
6:152728329 SYNE1 T>TA	6	152728329	152728330	T	TA	SYNE1	c.6542dup	NM_182961.3	NP_892006.3:p.(Ser2182IlefsTer5)	NC_000006.11:g.152728330dup	(Likely) pathogenic	1 lab	35828ec97e
6:123653026 TRDN T>C	6	123653026	123653026	T	C	TRDN	c.1469A>G	NM_006073.4	NP_006064.2:p.(Lys490Arg)	NC_000006.11:g.123653026T>C	VUS	1 lab	eaa4116165
15:91354439 BLM A>G	15	91354439	91354439	A	G	BLM	c.2754A>G	NM_001287248.1	NP_001274177.1:p.(Glu918=)	NC_000015.9:g.91354439A>G	(Likely) benign	1 lab	3582fd0925
5:139494272 PURA G>A	5	139494272	139494272	G	A	PURA	c.506G>A	NM_005859.4	NP_005850.1:p.(Arg169His)	NC_000005.9:g.139494272G>A	VUS	1 lab	358370a69a
17:29654800 NF1 C>T	17	29654800	29654800	C	T	NF1	c.5489C>T	NM_000267.3	NP_000258.1:p.(Pro1830Leu)	NC_000017.10:g.29654800C>T	(Likely) pathogenic	1 lab	35856ed1cc
11:57095796 SSRP1 C>T	11	57095796	57095796	C	T	SSRP1	c.1586G>A	NM_003146.3	NP_003137.1:p.(Arg529His)	NC_000011.9:g.57095796C>T	(Likely) benign	1 lab	35862e3496
13:110835427 COL4A1 C>G	13	110835427	110835427	C	G	COL4A1	c.2008G>C	NM_001845.5	NP_001836.3:p.(Gly670Arg)	NC_000013.10:g.110835427C>G	(Likely) pathogenic	1 lab	358635cd7f
5:131671629 SLC22A4 G>A	5	131671629	131671629	G	A	SLC22A4	c.1380G>A	NM_003059.3	NP_003050.2:p.(Ala460=)	NC_000005.9:g.131671629G>A	(Likely) benign	1 lab	35872b34f6
6:26448478 BTN3A3 C>G	6	26448478	26448478	C	G	BTN3A3	c.718C>G	NM_006994.5	NP_008925.1:p.(Pro240Ala)	NC_000006.11:g.26448478C>G	VUS	1 lab	35875b5aea
16:2136193 TSC2 G>C	16	2136193	2136193	G	C	TSC2	c.4663-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136193G>C	(Likely) pathogenic	1 lab	358884cac7
7:45650004 ADCY1 C>G	7	45650004	45650004	C	G	ADCY1	c.816C>G	NM_021116.3	NP_066939.1:p.(Pro272=)	NC_000007.13:g.45650004C>G	(Likely) benign	1 lab	3589a108fc
6:56569177 DST G>C	6	56569177	56569177	G	C	DST	c.688-10C>G	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56569177G>C	(Likely) benign	1 lab	3589f754f0
10:126097436 OAT C>T	10	126097436	126097436	C	T	OAT	c.298G>A	NM_001322966.1	NP_001309895.1:p.(Ala100Thr)	NC_000010.10:g.126097436C>T	VUS	1 lab	358a975341
10:7841732 ATP5F1C T>C	10	7841732	7841732	T	C	ATP5F1C	c.288-3T>C	NM_001320886.1	NP_001307815.1:p.?	NC_000010.10:g.7841732T>C	(Likely) benign	1 lab	358ae821e0
17:33498379 UNC45B C>T	17	33498379	33498379	C	T	UNC45B	c.1728C>T	NM_001033576.1	NP_001028748.1:p.(Thr576=)	NC_000017.10:g.33498379C>T	(Likely) benign	1 lab	358ff1c33b
20:3209815 SLC4A11 G>A	20	3209815	3209815	G	A	SLC4A11	c.2073C>T	NM_001174090.1	NP_001167561.1:p.(Leu691=)	NC_000020.10:g.3209815G>A	(Likely) benign	1 lab	3590589579
5:74721308 CERT1 C>T	5	74721308	74721308	C	T	CERT1	c.857G>A	NM_001130105.1	NP_001123577.1:p.(Arg286His)	NC_000005.9:g.74721308C>T	(Likely) benign	1 lab	3590ed31ba
1:45294011 PTCH2 G>A	1	45294011	45294011	G	A	PTCH2	c.1666C>T	NM_001166292.2	NP_001159764.1:p.(Arg556Trp)	NC_000001.10:g.45294011G>A	VUS	1 lab	eaa5eb57bf
3:52023041 ACY1 C>T	3	52023041	52023041	C	T	ACY1	c.1177C>T	NM_000666.2	NP_000657.1:p.(Arg393Cys)	NC_000003.11:g.52023041C>T	VUS	1 lab	35933e79df
17:11687744 DNAH9 C>T	17	11687744	11687744	C	T	DNAH9	c.7949C>T	NM_001372.3	NP_001363.2:p.(Pro2650Leu)	NC_000017.10:g.11687744C>T	VUS	1 lab	3593a0017e
6:401641 IRF4 C>T	6	401641	401641	C	T	IRF4	c.963C>T	NM_002460.3	NP_002451.2:p.(Pro321=)	NC_000006.11:g.401641C>T	(Likely) benign	1 lab	359412305c
5:145239448 GRXCR2 G>A	5	145239448	145239448	G	A	GRXCR2	c.595C>T	NM_001080516.1	NP_001073985.1:p.(His199Tyr)	NC_000005.9:g.145239448G>A	VUS	1 lab	3594f4a7e9
12:46244872 ARID2 C>G	12	46244872	46244872	C	G	ARID2	c.2966C>G	NM_152641.4	NP_689854.2:p.(Ser989Trp)	NC_000012.11:g.46244872C>G	VUS	1 lab	eaa955e4e0
X:153690471 PLXNA3 A>G	X	153690471	153690471	A	G	PLXNA3	c.1138A>G	NM_017514.4	NP_059984.3:p.(Met380Val)	NC_000023.10:g.153690471A>G	(Likely) benign	1 lab	359697e30a
2:179445287 TTN T>C	2	179445287	179445287	T	C	TTN	c.66819A>G	NM_001267550.1	NP_001254479.1:p.(Leu22273=)	NC_000002.11:g.179445287T>C	(Likely) benign	1 lab	3598026022
11:118373773 KMT2A C>A	11	118373773	118373773	C	A	KMT2A	c.7166C>A	NM_001197104.1	NP_001184033.1:p.(Thr2389Asn)	NC_000011.9:g.118373773C>A	(Likely) benign	1 lab	359805060d
5:55259300 IL6ST G>T	5	55259300	55259300	G	T	IL6ST	c.693C>A	NM_002184.4	NP_002175.2:p.(Ile231=)	NC_000005.9:g.55259300G>T	(Likely) benign	1 lab	359bc52c85
8:10468582 RP1L1 G>A	8	10468582	10468582	G	A	RP1L1	c.3026C>T	NM_178857.5	NP_849188.4:p.(Ala1009Val)	NC_000008.10:g.10468582G>A	(Likely) benign	1 lab	359c30817b
11:46398658 DGKZ T>G	11	46398658	46398658	T	G	DGKZ	c.2802T>G	NM_001105540.1	NP_001099010.1:p.(Asp934Glu)	NC_000011.9:g.46398658T>G	VUS	1 lab	359c9a7e3a
X:100745139 ARMCX4 A>G	X	100745139	100745139	A	G	ARMCX4	c.1563A>G	NM_001256155.2	NP_001243084.2:p.(Leu521=)	NC_000023.10:g.100745139A>G	(Likely) benign	1 lab	35a019a18b
10:75011519 MRPS16 AC>A	10	75011519	75011522	AC	A	MRPS16	c.274+1del	NM_016065.4	NP_057149.1:p.?	NC_000010.10:g.75011522del	VUS	1 lab	35a06c2c36
13:32954219 BRCA2 TTTC>T	13	32954219	32954222	TTTC	T	BRCA2	c.9194_9196del	NM_000059.4	NP_000050.3:p.(Phe3065Ter)	NC_000013.10:g.32954220_32954222del	(Likely) pathogenic	1 lab	35a0d8f46a
9:88356862 AGTPBP1 C>T	9	88356862	88356862	C	T	AGTPBP1	c.16G>A	NM_001286715.1	NP_001273644.1:p.(Ala6Thr)	NC_000009.11:g.88356862C>T	VUS	1 lab	35a14c3365
5:90087073 ADGRV1 A>G	5	90087073	90087073	A	G	ADGRV1	c.14427A>G	NM_032119.4	NP_115495.3:p.(Glu4809=)	NC_000005.9:g.90087073A>G	(Likely) benign	1 lab	35a286411e
15:22998473 CYFIP1 C>T	15	22998473	22998473	C	T	CYFIP1	c.1485C>T	NM_001324122.2	NP_001311051.1:p.(Ala495=)	NC_000015.9:g.22998473C>T	(Likely) benign	1 lab	35a2d061f2
5:94818178 SKIC3 T>C	5	94818178	94818178	T	C	SKIC3	c.4211A>G	NM_014639.3	NP_055454.1:p.(Gln1404Arg)	NC_000005.9:g.94818178T>C	VUS	1 lab	35a6af8751
16:90097893 DRC4 G>C	16	90097893	90097893	G	C	DRC4	c.28G>C	NM_001286205.1	NP_001273134.1:p.(Val10Leu)	NC_000016.9:g.90097893G>C	VUS	1 lab	35a73e2c3f
11:118367064 KMT2A T>C	11	118367064	118367064	T	C	KMT2A	c.5646T>C	NM_001197104.1	NP_001184033.1:p.(Tyr1882=)	NC_000011.9:g.118367064T>C	(Likely) benign	1 lab	35a83a5169
X:1584512 P2RY8 G>T	X	1584512	1584512	G	T	P2RY8	c.940C>A	NM_178129.4	NP_835230.1:p.(Pro314Thr)	NC_000023.10:g.1584512G>T	(Likely) benign	1 lab	35a867ce12
5:180057580 FLT4 G>A	5	180057580	180057580	G	A	FLT4	c.375C>T	NM_182925.4	NP_891555.2:p.(Ala125=)	NC_000005.9:g.180057580G>A	(Likely) benign	1 lab	35aaefe1d5
11:66481628 SPTBN2 T>C	11	66481628	66481628	T	C	SPTBN2	c.590A>G	NM_006946.3	NP_008877.1:p.(Asn197Ser)	NC_000011.9:g.66481628T>C	VUS	1 lab	35aaffc26d
8:61655091 CHD7 T>A	8	61655091	61655091	T	A	CHD7				NC_000008.10:g.61655091T>A	VUS	1 lab	35ab30131c
16:88494339 ZNF469 A>G	16	88494339	88494339	A	G	ZNF469				NC_000016.9:g.88494339A>G	(Likely) benign	1 lab	35ad8e5c90
19:39057617 RYR1 G>T	19	39057617	39057617	G	T	RYR1	c.13504G>T	NM_000540.2	NP_000531.2:p.(Glu4502Ter)	NC_000019.9:g.39057617G>T	VUS	1 lab	35ae58bcb6
17:78155442 CARD14 C>A	17	78155442	78155442	C	A	CARD14	c.205C>A	NM_024110.4	NP_077015.2:p.(Arg69=)	NC_000017.10:g.78155442C>A	(Likely) benign	1 lab	eaadf8a29b
12:48238704 VDR C>T	12	48238704	48238704	C	T	VDR	c.1259G>A	NM_001017536.1	NP_001017536.1:p.(Arg420His)	NC_000012.11:g.48238704C>T	(Likely) benign	1 lab	35bae03ab2
4:88537108 DSPP TAGCAGC>T	4	88537108	88537114	TAGCAGC	T	DSPP	c.3295_3300del	NM_014208.3	NP_055023.2:p.(Ser1099_Ser1100del)	NC_000004.11:g.88537109_88537114del	VUS	1 lab	35af4a42ff
7:91724455 AKAP9 C>T	7	91724455	91724455	C	T	AKAP9	c.9697C>T	NM_005751.4	NP_005742.4:p.(Arg3233Cys)	NC_000007.13:g.91724455C>T	VUS	1 lab	35b0eaef03
16:47683064 PHKB A>G	16	47683064	47683064	A	G	PHKB	c.1725A>G	NM_001031835.2	NP_001027005.1:p.(Leu575=)	NC_000016.9:g.47683064A>G	(Likely) benign	1 lab	35b0efaa38
17:73658665 RECQL5 C>T	17	73658665	73658665	C	T	RECQL5	c.665G>A	NM_004259.6	NP_004250.4:p.(Arg222Gln)	NC_000017.10:g.73658665C>T	VUS	1 lab	35b176393f
7:103030873 SLC26A5 C>A	7	103030873	103030873	C	A	SLC26A5	c.1311+3G>T	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103030873C>A	VUS	1 lab	35b3afe8bc
1:27440782 SLC9A1 G>A	1	27440782	27440782	G	A	SLC9A1	c.353-5C>T	NM_003047.4	NP_003038.2:p.?	NC_000001.10:g.27440782G>A	(Likely) benign	1 lab	35b429ef9f
9:138669316 KCNT1 C>T	9	138669316	138669316	C	T	KCNT1	c.2482C>T	NM_020822.2	NP_065873.2:p.(Arg828Cys)	NC_000009.11:g.138669316C>T	(Likely) benign	1 lab	35b4b54f30
12:1920835 CACNA2D4 G>A	12	1920835	1920835	G	A	CACNA2D4	c.2606C>T	NM_172364.4	NP_758952.4:p.(Thr869Met)	NC_000012.11:g.1920835G>A	(Likely) benign	1 lab	35b5a03786
17:8138596 CTC1 TC>T	17	8138596	8138598	TC	T	CTC1	c.1213del	NM_025099.6	NP_079375.3:p.(Asp405MetfsTer58)	NC_000017.10:g.8138598del	(Likely) pathogenic	1 lab	35b68ad9c2
15:90171788 KIF7 C>T	15	90171788	90171788	C	T	KIF7	c.3894G>A	NM_198525.2	NP_940927.2:p.(Ala1298=)	NC_000015.9:g.90171788C>T	(Likely) benign	1 lab	35b68f188a
2:152698480 CACNB4 C>T	2	152698480	152698480	C	T	CACNB4	c.1239G>A	NM_000726.4	NP_000717.2:p.(Leu413=)	NC_000002.11:g.152698480C>T	(Likely) benign	1 lab	35b92560f5
17:1268228 YWHAE G>A	17	1268228	1268228	G	A	YWHAE	c.189C>T	NM_006761.4	NP_006752.1:p.(Ile63=)	NC_000017.10:g.1268228G>A	(Likely) benign	1 lab	35b9b64092
8:100128050 VPS13B C>T	8	100128050	100128050	C	T	VPS13B	c.885C>T	NM_017890.4	NP_060360.3:p.(Gly295=)	NC_000008.10:g.100128050C>T	VUS	1 lab	35bc77874f
9:34660864 IL11RA C>T	9	34660864	34660864	C	T	IL11RA	c.1183C>T	NM_001142784.2	NP_001136256.1:p.(Arg395Trp)	NC_000009.11:g.34660864C>T	(Likely) benign	1 lab	35bcfe1463
1:1562535 MIB2 C>T	1	1562535	1562535	C	T	MIB2	c.1667C>T	NM_080875.2	NP_543151.2:p.(Ala556Val)	NC_000001.10:g.1562535C>T	VUS	1 lab	35bd69e92b
16:1258149 CACNA1H C>T	16	1258149	1258149	C	T	CACNA1H	c.3291C>T	NM_021098.2	NP_066921.2:p.(Ala1097=)	NC_000016.9:g.1258149C>T	(Likely) benign	1 lab	35bf46d510
22:30038189 NF2 A>G	22	30038189	30038189	A	G	NF2	c.364-2A>G	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30038189A>G	(Likely) pathogenic	1 lab	35c196a77e
2:227661379 IRS1 C>T	2	227661379	227661379	C	T	IRS1	c.2076G>A	NM_005544.2	NP_005535.1:p.(Gly692=)	NC_000002.11:g.227661379C>T	(Likely) benign	1 lab	35c3574470
6:157150454 ARID1B C>T	6	157150454	157150454	C	T	ARID1B	c.1885C>T	NM_001371656.1	NP_001358585.1:p.(Pro629Ser)	NC_000006.11:g.157150454C>T	VUS	1 lab	eab64f20d2
11:7982125 NLRP10 T>C	11	7982125	7982125	T	C	NLRP10	c.1034A>G	NM_176821.3	NP_789791.1:p.(Asp345Gly)	NC_000011.9:g.7982125T>C	(Likely) benign	1 lab	35c446c446
11:111910027 DLAT A>G	11	111910027	111910027	A	G	DLAT	c.1035A>G	NM_001931.4	NP_001922.2:p.(Pro345=)	NC_000011.9:g.111910027A>G	(Likely) benign	1 lab	35c5a792d4
X:153136348 L1CAM A>G	X	153136348	153136348	A	G	L1CAM	c.591T>C	NM_001278116.1	NP_001265045.1:p.(Asn197=)	NC_000023.10:g.153136348A>G	(Likely) benign	1 lab	35c63ee130
11:1268585 MUC5B C>T	11	1268585	1268585	C	T	MUC5B	c.10475C>T	NM_002458.2	NP_002449.2:p.(Ser3492Phe)	NC_000011.9:g.1268585C>T	(Likely) benign	1 lab	35c6995529
7:50530957 DDC G>A	7	50530957	50530957	G	A	DDC	c.1415C>T	NM_001082971.1	NP_001076440.1:p.(Ala472Val)	NC_000007.13:g.50530957G>A	(Likely) benign	1 lab	35c72d433e
19:50103051 PRR12 G>A	19	50103051	50103051	G	A	PRR12	c.4201G>A	NM_020719.3	NP_065770.1:p.(Ala1401Thr)	NC_000019.9:g.50103051G>A	VUS	1 lab	eab7982484
X:38009022 SRPX G>A	X	38009022	38009022	G	A	SRPX	c.1337C>T	NM_006307.4	NP_006298.1:p.(Pro446Leu)	NC_000023.10:g.38009022G>A	VUS	1 lab	35cbb5f65e
15:28447712 HERC2 G>A	15	28447712	28447712	G	A	HERC2	c.7261C>T	NM_004667.5	NP_004658.3:p.(Pro2421Ser)	NC_000015.9:g.28447712G>A	VUS	1 lab	35cf9f5ee3
19:55666083 TNNI3 G>A	19	55666083	55666083	G	A	TNNI3	c.372+26C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55666083G>A	(Likely) benign	1 lab	35d003c1bf
9:94060350 AUH G>A	9	94060350	94060350	G	A	AUH	c.187C>T	NM_001351432.1	NP_001338361.1:p.(Pro63Ser)	NC_000009.11:g.94060350G>A	VUS	1 lab	35d102ce39
X:100808612 ARMCX1 T>C	X	100808612	100808612	T	C	ARMCX1	c.699T>C	NM_016608.1	NP_057692.1:p.(Asn233=)	NC_000023.10:g.100808612T>C	(Likely) benign	1 lab	35d585d2f7
4:8621018 CPZ C>G	4	8621018	8621018	C	G	CPZ	c.1222C>G	NM_001014448.2	NP_001014448.1:p.(Pro408Ala)	NC_000004.11:g.8621018C>G	(Likely) benign	1 lab	35d62c8eb3
2:152409968 NEB C>T	2	152409968	152409968	C	T	NEB	c.19675G>A	NM_001271208.1	NP_001258137.1:p.(Val6559Ile)	NC_000002.11:g.152409968C>T	(Likely) benign	1 lab	35d63ff6f2
16:30999250 HSD3B7 G>A	16	30999250	30999250	G	A	HSD3B7	c.856G>A	NM_025193.3	NP_079469.2:p.(Ala286Thr)	NC_000016.9:g.30999250G>A	(Likely) benign	1 lab	35d679ed53
6:83849974 DOP1A A>T	6	83849974	83849974	A	T	DOP1A	c.5240A>T	NM_001199942.1	NP_001186871.1:p.(Glu1747Val)	NC_000006.11:g.83849974A>T	(Likely) benign	1 lab	35d8588f60
11:17191220 PIK3C2A T>C	11	17191220	17191220	T	C	PIK3C2A	c.69A>G	NM_001321378.1	NP_001308307.1:p.(Ala23=)	NC_000011.9:g.17191220T>C	(Likely) benign	1 lab	35d8b483c0
1:203024680 PPFIA4 C>T	1	203024680	203024680	C	T	PPFIA4	c.1950C>T	NM_001304331.1	NP_001291260.1:p.(Pro650=)	NC_000001.10:g.203024680C>T	(Likely) benign	1 lab	35d96f4729
2:98804493 VWA3B C>T	2	98804493	98804493	C	T	VWA3B	c.1367C>T	NM_144992.4	NP_659429.4:p.(Pro456Leu)	NC_000002.11:g.98804493C>T	(Likely) benign	1 lab	35da448759
19:50783605 MYH14 C>T	19	50783605	50783605	C	T	MYH14	c.4255C>T	NM_001145809.1	NP_001139281.1:p.(Arg1419Trp)	NC_000019.9:g.50783605C>T	(Likely) benign	1 lab	35db59a634
6:32797769 TAP2 G>A	6	32797769	32797769	G	A	TAP2	c.1733C>T	NM_001290043.1	NP_001276972.1:p.(Ala578Val)	NC_000006.11:g.32797769G>A	VUS	1 lab	35db65070f
19:11348755 DOCK6 G>A	19	11348755	11348755	G	A	DOCK6	c.1798C>T	NM_020812.3	NP_065863.2:p.(Arg600Cys)	NC_000019.9:g.11348755G>A	VUS	1 lab	35dbb24dff
3:184038738 EIF4G1 A>G	3	184038738	184038738	A	G	EIF4G1	c.654A>G	NM_182917.4	NP_886553.3:p.(Gln218=)	NC_000003.11:g.184038738A>G	(Likely) benign	1 lab	35dbd1a58d
3:46008214 FYCO1 C>T	3	46008214	46008214	C	T	FYCO1	c.2612G>A	NM_024513.3	NP_078789.2:p.(Arg871Gln)	NC_000003.11:g.46008214C>T	(Likely) benign	1 lab	35dcf507cc
4:41262746 UCHL1 T>C	4	41262746	41262746	T	C	UCHL1	c.257T>C	NM_004181.4	NP_004172.2:p.(Ile86Thr)	NC_000004.11:g.41262746T>C	(Likely) benign	1 lab	35dd80090b
22:21153988 PI4KA G>A	22	21153988	21153988	G	A	PI4KA	c.1791C>T	NM_058004.3	NP_477352.3:p.(Asn597=)	NC_000022.10:g.21153988G>A	(Likely) benign	1 lab	35de252f17
16:2133802 TSC2 G>A	16	2133802	2133802	G	A	TSC2	c.3921G>A	NM_001114382.2	NP_001107854.1:p.(Thr1307=)	NC_000016.9:g.2133802G>A	(Likely) benign	1 lab	35dea469ce
16:88503002 ZNF469 C>T	16	88503002	88503002	C	T	ZNF469				NC_000016.9:g.88503002C>T	VUS	1 lab	35df7a720d
6:42936109 PEX6 C>T	6	42936109	42936109	C	T	PEX6	c.1607G>A	NM_000287.3	NP_000278.3:p.(Arg536Gln)	NC_000006.11:g.42936109C>T	VUS	1 lab	35df7a922f
11:67223175 CABP4 G>A	11	67223175	67223175	G	A	CABP4	c.281G>A	NM_145200.3	NP_660201.1:p.(Arg94His)	NC_000011.9:g.67223175G>A	VUS	1 lab	35dff68f28
5:178506941 ZNF354C A>G	5	178506941	178506941	A	G	ZNF354C	c.1508A>G	NM_014594.2	NP_055409.1:p.(Lys503Arg)	NC_000005.9:g.178506941A>G	VUS	1 lab	35e074b23d
17:77753170 CBX2 C>T	17	77753170	77753170	C	T	CBX2	c.126C>T	NM_005189.2	NP_005180.1:p.(Ser42=)	NC_000017.10:g.77753170C>T	(Likely) benign	1 lab	35e0a4a094
12:40878087 MUC19 T>G	12	40878087	40878087	T	G	MUC19	c.11333T>G	NM_173600.2	NP_775871.2:p.(Leu3778Arg)	NC_000012.11:g.40878087T>G	(Likely) benign	1 lab	35e1b6f5cb
10:112572442 RBM20 G>A	10	112572442	112572442	G	A	RBM20	c.2287G>A	NM_001134363.3	NP_001127835.2:p.(Glu763Lys)	NC_000010.10:g.112572442G>A	VUS	1 lab	eaba496a00
X:25031156 ARX G>T	X	25031156	25031156	G	T	ARX	c.956C>A	NM_139058.2	NP_620689.1:p.(Ser319Ter)	NC_000023.10:g.25031156G>T	(Likely) pathogenic	1 lab	35e640f22c
X:48681833 HDAC6 G>A	X	48681833	48681833	G	A	HDAC6	c.3024G>A	NM_001321226.1	NP_001308155.1:p.(Thr1008=)	NC_000023.10:g.48681833G>A	(Likely) benign	1 lab	35e7ca4c0a
2:210837859 UNC80 C>T	2	210837859	210837859	C	T	UNC80	c.8254C>T	NM_032504.1	NP_115893.1:p.(Arg2752Trp)	NC_000002.11:g.210837859C>T	VUS	1 lab	35e8c41af7
11:36597875 RAG1 T>G	11	36597875	36597875	T	G	RAG1	c.3021T>G	NM_000448.2	NP_000439.1:p.(Asn1007Lys)	NC_000011.9:g.36597875T>G	(Likely) benign	1 lab	35e932e481
1:220364622 RAB3GAP2 G>C	1	220364622	220364622	G	C	RAB3GAP2	c.1275C>G	NM_012414.3	NP_036546.2:p.(Tyr425Ter)	NC_000001.10:g.220364622G>C	(Likely) pathogenic	1 lab	35e9647fdf
11:68191076 LRP5 C>T	11	68191076	68191076	C	T	LRP5	c.1404C>T	NM_001291902.1	NP_001278831.1:p.(Asn468=)	NC_000011.9:g.68191076C>T	(Likely) benign	1 lab	35e9c691b1
6:74304960 SLC17A5 C>T	6	74304960	74304960	C	T	SLC17A5	c.1351-23G>A	NM_012434.4	NP_036566.1:p.?	NC_000006.11:g.74304960C>T	(Likely) benign	1 lab	35e9d15b12
6:7583479 DSP T>C	6	7583479	7583479	T	C	DSP	c.5984T>C	NM_004415.2	NP_004406.2:p.(Leu1995Ser)	NC_000006.11:g.7583479T>C	VUS	1 lab	35ea93c763
17:29528428 NF1 G>T	17	29528428	29528428	G	T	NF1	c.1186-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528428G>T	(Likely) pathogenic	1 lab	35eb9ecfaa
2:196602773 DNAH7 G>A	2	196602773	196602773	G	A	DNAH7	c.11947C>T	NM_018897.3	NP_061720.2:p.(Arg3983Trp)	NC_000002.11:g.196602773G>A	(Likely) benign	1 lab	35ebd47edf
1:208211809 PLXNA2 T>G	1	208211809	208211809	T	G	PLXNA2	c.4671A>C	NM_025179.4	NP_079455.3:p.(Gln1557His)	NC_000001.10:g.208211809T>G	VUS	1 lab	35ec67c214
4:41263776 UCHL1 A>C	4	41263776	41263776	A	C	UCHL1	c.370A>C	NM_004181.4	NP_004172.2:p.(Met124Leu)	NC_000004.11:g.41263776A>C	(Likely) benign	1 lab	35ec953a60
15:100533254 ADAMTS17 G>A	15	100533254	100533254	G	A	ADAMTS17	c.2948C>T	NM_139057.3	NP_620688.2:p.(Thr983Met)	NC_000015.9:g.100533254G>A	VUS	1 lab	35ece154a9
5:56111800 MAP3K1 G>A	5	56111800	56111800	G	A	MAP3K1	c.400G>A	NM_005921.1	NP_005912.1:p.(Gly134Ser)	NC_000005.9:g.56111800G>A	VUS	1 lab	35ee835053
10:118319978 PNLIP C>T	10	118319978	118319978	C	T	PNLIP	c.1111C>T	NM_000936.3	NP_000927.1:p.(His371Tyr)	NC_000010.10:g.118319978C>T	(Likely) benign	1 lab	35f2b1cfd0
X:50052618 CCNB3 C>T	X	50052618	50052618	C	T	CCNB3	c.1449C>T	NM_033031.2	NP_149020.2:p.(Pro483=)	NC_000023.10:g.50052618C>T	(Likely) benign	1 lab	35f2d854bd
8:142229855 SLC45A4 C>T	8	142229855	142229855	C	T	SLC45A4	c.504G>A	NM_001286646.1	NP_001273575.1:p.(Leu168=)	NC_000008.10:g.142229855C>T	(Likely) benign	1 lab	35f34b9cfd
X:44950080 KDM6A C>T	X	44950080	44950080	C	T	KDM6A	c.4005C>T	NM_001291415.1	NP_001278344.1:p.(Val1335=)	NC_000023.10:g.44950080C>T	(Likely) benign	1 lab	35f4d7e622
1:17313458 ATP13A2 G>T	1	17313458	17313458	G	T	ATP13A2	c.3069-7C>A	NM_001141973.2	NP_001135445.1:p.?	NC_000001.10:g.17313458G>T	(Likely) benign	1 lab	35f5327074
11:43940689 ALKBH3 G>A	11	43940689	43940689	G	A	ALKBH3	c.768+3G>A	NM_139178.4	NP_631917.1:p.?	NC_000011.9:g.43940689G>A	(Likely) benign	1 lab	35f6b57747
18:9221888 ANKRD12 T>G	18	9221888	9221888	T	G	ANKRD12	c.765T>G	NM_001204056.1	NP_001190985.1:p.(Phe255Leu)	NC_000018.9:g.9221888T>G	VUS	1 lab	35f7353605
12:113901214 LHX5 G>A	12	113901214	113901214	G	A	LHX5	c.990C>T	NM_022363.3	NP_071758.1:p.(Leu330=)	NC_000012.11:g.113901214G>A	(Likely) benign	1 lab	35fb87109d
10:68687599 LRRTM3 C>G	10	68687599	68687599	C	G	LRRTM3	c.925C>G	NM_178011.5	NP_821079.3:p.(Leu309Val)	NC_000010.10:g.68687599C>G	VUS	1 lab	36001b1444
X:12736758 FRMPD4 C>T	X	12736758	12736758	C	T	FRMPD4	c.3813C>T	NM_014728.3	NP_055543.2:p.(His1271=)	NC_000023.10:g.12736758C>T	(Likely) benign	1 lab	3601dd6b04
X:10090710 WWC3 G>A	X	10090710	10090710	G	A	WWC3	c.1682G>A	NM_015691.3	NP_056506.2:p.(Arg561His)	NC_000023.10:g.10090710G>A	(Likely) benign	1 lab	3602462608
16:57697413 ADGRG1 T>C	16	57697413	57697413	T	C	ADGRG1	c.1983T>C	NM_001145772.2	NP_001139244.1:p.(Gly661=)	NC_000016.9:g.57697413T>C	(Likely) benign	1 lab	3603461640
7:75933112 HSPB1 C>G	7	75933112	75933112	C	G	HSPB1	c.365-7C>G	NM_001540.3	NP_001531.1:p.?	NC_000007.13:g.75933112C>G	VUS	1 lab	3604150036
1:11831656 C1orf167 C>T	1	11831656	11831656	C	T	C1orf167	c.1773C>T	NM_001010881.1	NP_001010881.1:p.(His591=)	NC_000001.10:g.11831656C>T	(Likely) benign	1 lab	3604358b61
11:44151602 EXT2 G>A	11	44151602	44151602	G	A	EXT2	c.1087G>A	NM_001178083.1	NP_001171554.1:p.(Val363Met)	NC_000011.9:g.44151602G>A	VUS	1 lab	3604d1b96d
3:58094945 FLNB C>T	3	58094945	58094945	C	T	FLNB	c.2095C>T	NM_001164317.1	NP_001157789.1:p.(Arg699Trp)	NC_000003.11:g.58094945C>T	VUS	1 lab	36057b699a
15:45884378 BLOC1S6 C>A	15	45884378	45884378	C	A	BLOC1S6	c.128C>A	NM_012388.3	NP_036520.1:p.(Thr43Asn)	NC_000015.9:g.45884378C>A	(Likely) benign	1 lab	360603c25e
5:68715423 MARVELD2 A>G	5	68715423	68715423	A	G	MARVELD2	c.211A>G	NM_001038603.2	NP_001033692.2:p.(Ile71Val)	NC_000005.9:g.68715423A>G	(Likely) benign	1 lab	3606657470
1:172525116 SUCO T>C	1	172525116	172525116	T	C	SUCO	c.870T>C	NM_016227.3	NP_057311.3:p.(Asn290=)	NC_000001.10:g.172525116T>C	(Likely) benign	1 lab	3606883274
16:57921966 CNGB1 T>A	16	57921966	57921966	T	A	CNGB1	c.3255A>T	NM_001297.4	NP_001288.3:p.(Arg1085Ser)	NC_000016.9:g.57921966T>A	VUS	1 lab	3606d4da0d
2:101192933 PDCL3 G>C	2	101192933	101192933	G	C	PDCL3	c.695G>C	NM_024065.5	NP_076970.1:p.(Arg232Thr)	NC_000002.11:g.101192933G>C	(Likely) benign	1 lab	36076650cb
X:153047248 SRPK3 C>T	X	153047248	153047248	C	T	SRPK3	c.350C>T	NM_014370.3	NP_055185.2:p.(Thr117Met)	NC_000023.10:g.153047248C>T	VUS	1 lab	360948e854
22:38516783 PLA2G6 C>T	22	38516783	38516783	C	T	PLA2G6	c.1191G>A	NM_001349867.1	NP_001336796.1:p.(Thr397=)	NC_000022.10:g.38516783C>T	(Likely) benign	1 lab	3609fe7c4b
6:45514937 RUNX2 G>T	6	45514937	45514937	G	T	RUNX2	c.1461G>T	NM_001024630.3	NP_001019801.3:p.(Leu487Phe)	NC_000006.11:g.45514937G>T	VUS	1 lab	360a126a9d
9:137698068 COL5A1 G>T	9	137698068	137698068	G	T	COL5A1	c.3292G>T	NM_000093.4	NP_000084.3:p.(Ala1098Ser)	NC_000009.11:g.137698068G>T	VUS	1 lab	360b8491d6
2:31754467 SRD5A2 C>T	2	31754467	31754467	C	T	SRD5A2	c.608G>A	NM_000348.3	NP_000339.2:p.(Gly203Asp)	NC_000002.11:g.31754467C>T	(Likely) pathogenic	1 lab	360c338305
1:201337329 TNNT2 C>T	1	201337329	201337329	C	T	TNNT2	c.94G>A	NM_001276347.1	NP_001263276.1:p.(Ala32Thr)	NC_000001.10:g.201337329C>T	VUS	1 lab	360f28798e
22:21159269 PI4KA G>A	22	21159269	21159269	G	A	PI4KA	c.1353C>T	NM_058004.3	NP_477352.3:p.(Asp451=)	NC_000022.10:g.21159269G>A	(Likely) benign	1 lab	360f38825b
17:60107336 MED13 A>T	17	60107336	60107336	A	T	MED13	c.1048T>A	NM_005121.2	NP_005112.2:p.(Ser350Thr)	NC_000017.10:g.60107336A>T	VUS	1 lab	36107477ea
11:121454187 SORL1 G>T	11	121454187	121454187	G	T	SORL1	c.3601G>T	NM_003105.5	NP_003096.1:p.(Ala1201Ser)	NC_000011.9:g.121454187G>T	VUS	1 lab	36111c9788
10:73569713 CDH23 C>T	10	73569713	73569713	C	T	CDH23	c.8859C>T	NM_022124.5	NP_071407.4:p.(Asp2953=)	NC_000010.10:g.73569713C>T	(Likely) benign	1 lab	361202af03
X:102347930 NXF3 T>C	X	102347930	102347930	T	C	NXF3	c.22A>G	NM_022052.1	NP_071335.1:p.(Thr8Ala)	NC_000023.10:g.102347930T>C	(Likely) benign	1 lab	3612bd669e
4:8601177 CPZ C>T	4	8601177	8601177	C	T	CPZ	c.-586-3C>T	NM_001014448.2	NP_001014448.1:p.?	NC_000004.11:g.8601177C>T	(Likely) benign	1 lab	36133d1825
11:6647560 DCHS1 C>T	11	6647560	6647560	C	T	DCHS1				NC_000011.9:g.6647560C>T	(Likely) benign	1 lab	36138b4506
17:8792028 PIK3R5 A>G	17	8792028	8792028	A	G	PIK3R5	c.1076T>C	NM_014308.3	NP_055123.2:p.(Leu359Ser)	NC_000017.10:g.8792028A>G	(Likely) benign	1 lab	36140f322a
3:58154222 FLNB C>T	3	58154222	58154222	C	T	FLNB	c.7347C>T	NM_001164317.1	NP_001157789.1:p.(Ser2449=)	NC_000003.11:g.58154222C>T	(Likely) benign	1 lab	36159fd471
10:31803542 ZEB1 G>A	10	31803542	31803542	G	A	ZEB1	c.42G>A	NM_001323638.1	NP_001310567.1:p.(Thr14=)	NC_000010.10:g.31803542G>A	(Likely) benign	1 lab	36168179f4
16:49671074 ZNF423 C>A	16	49671074	49671074	C	A	ZNF423	c.1809G>T	NM_001271620.2	NP_001258549.1:p.(Ala603=)	NC_000016.9:g.49671074C>A	(Likely) benign	1 lab	3616fd192f
3:143297475 SLC9A9 G>A	3	143297475	143297475	G	A	SLC9A9	c.846C>T	NM_173653.3	NP_775924.1:p.(Phe282=)	NC_000003.11:g.143297475G>A	(Likely) benign	1 lab	3617dce696
11:108385518 EXPH5 C>G	11	108385518	108385518	C	G	EXPH5	c.716G>C	NM_015065.3	NP_055880.2:p.(Arg239Thr)	NC_000011.9:g.108385518C>G	(Likely) benign	1 lab	3619e5aada
8:100847807 VPS13B C>T	8	100847807	100847807	C	T	VPS13B	c.9858C>T	NM_017890.4	NP_060360.3:p.(Ser3286=)	NC_000008.10:g.100847807C>T	(Likely) benign	1 lab	361a3bcbe0
15:41988755 MGA A>G	15	41988755	41988755	A	G	MGA	c.1547A>G	NM_001164273.1	NP_001157745.1:p.(Asn516Ser)	NC_000015.9:g.41988755A>G	(Likely) benign	1 lab	361aea9651
10:68940135 CTNNA3 G>A	10	68940135	68940135	G	A	CTNNA3	c.987C>T	NM_013266.3	NP_037398.2:p.(Ile329=)	NC_000010.10:g.68940135G>A	(Likely) benign	1 lab	361c99c5fc
9:34517341 DNAI1 C>T	9	34517341	34517341	C	T	DNAI1	c.1889C>T	NM_001281428.1	NP_001268357.1:p.(Ala630Val)	NC_000009.11:g.34517341C>T	(Likely) benign	1 lab	361d41ac80
5:114607056 CCDC112 T>A	5	114607056	114607056	T	A	CCDC112	c.937A>T	NM_152549.2	NP_689762.2:p.(Lys313Ter)	NC_000005.9:g.114607056T>A	VUS	1 lab	361d759093
16:54967220 IRX5 C>A	16	54967220	54967220	C	A	IRX5	c.887C>A	NM_005853.5	NP_005844.4:p.(Pro296Gln)	NC_000016.9:g.54967220C>A	(Likely) benign	1 lab	361ed06a9d
13:51522203 RNASEH2B A>C	13	51522203	51522203	A	C	RNASEH2B	c.697A>C	NM_001142279.2	NP_001135751.1:p.(Lys233Gln)	NC_000013.10:g.51522203A>C	(Likely) benign	1 lab	3620f7a518
1:103404630 COL11A1 C>A	1	103404630	103404630	C	A	COL11A1	c.3435G>T	NM_080629.2	NP_542196.2:p.(Glu1145Asp)	NC_000001.10:g.103404630C>A	VUS	1 lab	36217dc14d
2:109379987 RANBP2 A>G	2	109379987	109379987	A	G	RANBP2	c.2992A>G	NM_006267.4	NP_006258.3:p.(Thr998Ala)	NC_000002.11:g.109379987A>G	(Likely) benign	1 lab	3622841e0d
16:68712135 CDH3 T>C	16	68712135	68712135	T	C	CDH3	c.345T>C	NM_001793.5	NP_001784.2:p.(Ser115=)	NC_000016.9:g.68712135T>C	(Likely) benign	1 lab	3622b6b3df
18:19423121 MIB1 GA>G	18	19423121	19423123	GA	G	MIB1	c.1994del	NM_020774.4	NP_065825.1:p.(Asn665ThrfsTer43)	NC_000018.9:g.19423123del	(Likely) pathogenic	1 lab	eac84a08fc
4:79403071 FRAS1 G>A	4	79403071	79403071	G	A	FRAS1	c.8557G>A	NM_025074.7	NP_079350.5:p.(Val2853Ile)	NC_000004.11:g.79403071G>A	(Likely) benign	1 lab	3623404940
2:112767518 MERTK A>AT	2	112767518	112767521	A	AT	MERTK	c.1961-4dup	NM_006343.2	NP_006334.2:p.?	NC_000002.11:g.112767521dup	(Likely) benign	1 lab	3623813a78
1:151316336 RFX5 G>A	1	151316336	151316336	G	A	RFX5	c.578C>T	NM_000449.3	NP_000440.1:p.(Thr193Ile)	NC_000001.10:g.151316336G>A	VUS	1 lab	3624d05ed6
17:29528458 NF1 AT>A	17	29528458	29528461	AT	A	NF1	c.1218del	NM_001042492.3	NP_001035957.1:p.(His407ThrfsTer5)	NC_000017.10:g.29528461del	(Likely) pathogenic	1 lab	36259173af
11:1268610 MUC5B T>G	11	1268610	1268610	T	G	MUC5B	c.10500T>G	NM_002458.2	NP_002449.2:p.(Ser3500Arg)	NC_000011.9:g.1268610T>G	(Likely) benign	1 lab	3626d93d94
8:7835270 USP17L3 C>A	8	7835270	7835270	C	A	USP17L3	c.238G>T	NM_001256871.1	NP_001243800.1:p.(Ala80Ser)	NC_000008.10:g.7835270C>A	(Likely) benign	1 lab	3629e9da7f
2:110372437 SOWAHC C>G	2	110372437	110372437	C	G	SOWAHC	c.371C>G	NM_023016.4	NP_075392.2:p.(Pro124Arg)	NC_000002.11:g.110372437C>G	(Likely) benign	1 lab	362bf9ec69
15:90196146 KIF7 G>A	15	90196146	90196146	G	A	KIF7	c.16C>T	NM_198525.2	NP_940927.2:p.(Gln6Ter)	NC_000015.9:g.90196146G>A	(Likely) pathogenic	1 lab	362c55f60a
17:455147 VPS53 C>T	17	455147	455147	C	T	VPS53	c.1831G>A	NM_001128159.2	NP_001121631.1:p.(Ala611Thr)	NC_000017.10:g.455147C>T	(Likely) benign	1 lab	362cf6264e
X:12735786 FRMPD4 A>G	X	12735786	12735786	A	G	FRMPD4	c.2841A>G	NM_014728.3	NP_055543.2:p.(Ala947=)	NC_000023.10:g.12735786A>G	(Likely) benign	1 lab	362d87454d
11:17793617 KCNC1 C>T	11	17793617	17793617	C	T	KCNC1	c.976C>T	NM_001112741.2	NP_001106212.1:p.(Arg326Cys)	NC_000011.9:g.17793617C>T	VUS	1 lab	eac9c7ecff
2:71190696 ATP6V1B1 T>C	2	71190696	71190696	T	C	ATP6V1B1	c.1061-6T>C	NM_001692.4	NP_001683.2:p.?	NC_000002.11:g.71190696T>C	(Likely) benign	1 lab	3631981619
4:119203985 PRSS12 C>T	4	119203985	119203985	C	T	PRSS12	c.2320+1G>A	NM_003619.3	NP_003610.2:p.?	NC_000004.11:g.119203985C>T	VUS	1 lab	363331cade
11:62554329 TAF6L C>A	11	62554329	62554329	C	A	TAF6L	c.1430C>A	NM_006473.4	NP_006464.1:p.(Ala477Glu)	NC_000011.9:g.62554329C>A	(Likely) benign	1 lab	3633e07615
8:116766 OR4F21 T>C	8	116766	116766	T	C	OR4F21	c.259A>G	NM_001005504.1	NP_001005504.1:p.(Arg87Gly)	NC_000008.10:g.116766T>C	(Likely) benign	1 lab	3634892169
20:36868000 KIAA1755 G>A	20	36868000	36868000	G	A	KIAA1755	c.1677C>T	NM_001029864.1	NP_001025035.1:p.(Pro559=)	NC_000020.10:g.36868000G>A	(Likely) benign	1 lab	36357ff536
4:126239987 FAT4 G>A	4	126239987	126239987	G	A	FAT4	c.2421G>A	NM_024582.4	NP_078858.4:p.(Ala807=)	NC_000004.11:g.126239987G>A	(Likely) benign	1 lab	3635ed643d
20:10622125 JAG1 T>TG	20	10622125	10622126	T	TG	JAG1	c.2898dup	NM_000214.3	NP_000205.1:p.(Lys967GlnfsTer16)	NC_000020.10:g.10622126dup	(Likely) pathogenic	1 lab	36371e0bfc
2:25463567 DNMT3A AATCACCAG>A	2	25463567	25463578	AATCACCAG	A	DNMT3A	c.2107_2114del	NM_175629.2	NP_783328.1:p.(Leu703TrpfsTer7)	NC_000002.11:g.25463571_25463578del	(Likely) pathogenic	1 lab	eacd7a1d11
2:31754370 SRD5A2 A>C	2	31754370	31754370	A	C	SRD5A2	c.698+7T>G	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31754370A>C	(Likely) benign	1 lab	3638dfeb0f
11:72145182 CLPB G>T	11	72145182	72145182	G	T	CLPB	c.95C>A	NM_001258394.2	NP_001245323.1:p.(Thr32Asn)	NC_000011.9:g.72145182G>T	(Likely) benign	1 lab	363945599d
10:87966150 GRID1 T>A	10	87966150	87966150	T	A	GRID1	c.491A>T	NM_017551.2	NP_060021.1:p.(Lys164Met)	NC_000010.10:g.87966150T>A	VUS	1 lab	363a8c12dd
21:34011371 SYNJ1 G>A	21	34011371	34011371	G	A	SYNJ1	c.3879C>T	NM_003895.3	NP_003886.3:p.(Pro1293=)	NC_000021.8:g.34011371G>A	(Likely) benign	1 lab	363aa08bb8
8:100865772 VPS13B G>A	8	100865772	100865772	G	A	VPS13B	c.10230G>A	NM_017890.4	NP_060360.3:p.(Glu3410=)	NC_000008.10:g.100865772G>A	(Likely) benign	1 lab	363aec7081
16:57684210 ADGRG1 A>G	16	57684210	57684210	A	G	ADGRG1	c.11A>G	NM_001145772.2	NP_001139244.1:p.(Gln4Arg)	NC_000016.9:g.57684210A>G	(Likely) benign	1 lab	363b027562
1:236912513 ACTN2 T>C	1	236912513	236912513	T	C	ACTN2	c.981T>C	NM_001278344.1	NP_001265273.1:p.(Ala327=)	NC_000001.10:g.236912513T>C	(Likely) benign	1 lab	364041ea2b
12:56486839 ERBB3 T>C	12	56486839	56486839	T	C	ERBB3	c.1253T>C	NM_001982.3	NP_001973.2:p.(Ile418Thr)	NC_000012.11:g.56486839T>C	VUS	1 lab	36423bc944
9:2645598 VLDLR C>G	9	2645598	2645598	C	G	VLDLR	c.1337C>G	NM_003383.4	NP_003374.3:p.(Thr446Ser)	NC_000009.11:g.2645598C>G	VUS	1 lab	36437091a5
16:19680620 VPS35L C>T	16	19680620	19680620	C	T	VPS35L	c.2360C>T	NM_020314.7	NP_064710.5:p.(Pro787Leu)	NC_000016.9:g.19680620C>T	VUS	1 lab	eacdb2a5f1
3:53835340 CACNA1D G>A	3	53835340	53835340	G	A	CACNA1D	c.5356G>A	NM_000720.4	NP_000711.1:p.(Ala1786Thr)	NC_000003.11:g.53835340G>A	VUS	1 lab	eace77ef59
21:47836448 PCNT A>G	21	47836448	47836448	A	G	PCNT	c.6616A>G	NM_006031.5	NP_006022.3:p.(Thr2206Ala)	NC_000021.8:g.47836448A>G	(Likely) benign	1 lab	3643f5aeed
10:118306948 PNLIP A>C	10	118306948	118306948	A	C	PNLIP	c.189A>C	NM_000936.3	NP_000927.1:p.(Pro63=)	NC_000010.10:g.118306948A>C	(Likely) benign	1 lab	3645818b4d
X:10098055 WWC3 C>T	X	10098055	10098055	C	T	WWC3	c.2492C>T	NM_015691.3	NP_056506.2:p.(Pro831Leu)	NC_000023.10:g.10098055C>T	(Likely) benign	1 lab	36472ecbe0
2:88895090 EIF2AK3 G>A	2	88895090	88895090	G	A	EIF2AK3	c.530C>T	NM_004836.6	NP_004827.4:p.(Thr177Ile)	NC_000002.11:g.88895090G>A	VUS	1 lab	3648299cbf
8:1719331 CLN8 C>T	8	1719331	1719331	C	T	CLN8	c.111C>T	NM_018941.3	NP_061764.2:p.(Gly37=)	NC_000008.10:g.1719331C>T	(Likely) benign	1 lab	3649d29321
12:15807129 EPS8 A>G	12	15807129	15807129	A	G	EPS8	c.1200T>C	NM_004447.5	NP_004438.3:p.(Gly400=)	NC_000012.11:g.15807129A>G	(Likely) benign	1 lab	364ba4f1c7
5:35010179 AGXT2 G>T	5	35010179	35010179	G	T	AGXT2	c.1264C>A	NM_031900.4	NP_114106.1:p.(Arg422=)	NC_000005.9:g.35010179G>T	(Likely) benign	1 lab	364be2e161
10:27821517 RAB18 T>A	10	27821517	27821517	T	A	RAB18	c.259+9T>A	NM_021252.4	NP_067075.1:p.?	NC_000010.10:g.27821517T>A	(Likely) benign	1 lab	364e43f54e
1:220364620 RAB3GAP2 C>T	1	220364620	220364620	C	T	RAB3GAP2	c.1277G>A	NM_012414.3	NP_036546.2:p.(Arg426His)	NC_000001.10:g.220364620C>T	VUS	1 lab	364eeaf138
11:3845245 PGAP2 C>T	11	3845245	3845245	C	T	PGAP2	c.308C>T	NM_001346401.1	NP_001333330.1:p.(Pro103Leu)	NC_000011.9:g.3845245C>T	VUS	1 lab	364f39f6d2
19:6495604 TUBB4A C>T	19	6495604	6495604	C	T	TUBB4A	c.690G>A	NM_001289130.1	NP_001276059.1:p.(Ala230=)	NC_000019.9:g.6495604C>T	(Likely) benign	1 lab	365232d563
17:34079822 GAS2L2 C>T	17	34079822	34079822	C	T	GAS2L2	c.48G>A	NM_139285.3	NP_644814.1:p.(Pro16=)	NC_000017.10:g.34079822C>T	(Likely) benign	1 lab	3653858da6
16:65005565 CDH11 T>A	16	65005565	65005565	T	A	CDH11	c.1559A>T	NM_001797.4	NP_001788.2:p.(Asp520Val)	NC_000016.9:g.65005565T>A	VUS	1 lab	ead20c66e1
X:123019821 XIAP G>A	X	123019821	123019821	G	A	XIAP	c.309G>A	NM_001167.3	NP_001158.2:p.(Thr103=)	NC_000023.10:g.123019821G>A	(Likely) benign	1 lab	3656b3eb58
16:2129608 TSC2 T>TG	16	2129608	2129610	T	TG	TSC2	c.3337dup	NM_000548.3	NP_000539.2:p.(Glu1113GlyfsTer55)	NC_000016.9:g.2129610dup	(Likely) pathogenic	1 lab	365a7162d0
9:134397608 POMT1 G>A	9	134397608	134397608	G	A	POMT1	c.2000G>A	NM_001136113.1	NP_001129585.1:p.(Cys667Tyr)	NC_000009.11:g.134397608G>A	VUS	1 lab	365b2ff896
17:1628711 WDR81 A>G	17	1628711	1628711	A	G	WDR81	c.458A>G	NM_001163809.1	NP_001157281.1:p.(His153Arg)	NC_000017.10:g.1628711A>G	(Likely) benign	1 lab	365b44da05
3:10103877 FANCD2 C>T	3	10103877	10103877	C	T	FANCD2	c.1809C>T	NM_033084.3	NP_149075.2:p.(Ser603=)	NC_000003.11:g.10103877C>T	(Likely) benign	1 lab	365b6e9264
13:78477360 EDNRB C>T	13	78477360	78477360	C	T	EDNRB	c.732G>A	NM_000115.4	NP_000106.1:p.(Thr244=)	NC_000013.10:g.78477360C>T	(Likely) benign	1 lab	365bf0f178
7:107533687 DLD T>C	7	107533687	107533687	T	C	DLD	c.82T>C	NM_000108.4	NP_000099.2:p.(Ser28Pro)	NC_000007.13:g.107533687T>C	(Likely) benign	1 lab	365c54ce96
1:234744860 IRF2BP2 CG>C	1	234744860	234744865	CG	C	IRF2BP2	c.380del	NM_182972.3	NP_892017.2:p.(Pro127ArgfsTer27)	NC_000001.10:g.234744865del	VUS	1 lab	365d1751d3
8:144996286 PLEC C>T	8	144996286	144996286	C	T	PLEC	c.8114G>A	NM_201380.3	NP_958782.1:p.(Arg2705His)	NC_000008.10:g.144996286C>T	(Likely) benign	1 lab	365d7d5dc9
22:51158979 MISSING T>A	22	51158979	51158979	T	A	MISSING				NC_000022.10:g.51158979T>A	(Likely) benign	1 lab	365eae491e
10:102770409 PDZD7 A>T	10	102770409	102770409	A	T	PDZD7	c.2237T>A	NM_001195263.1	NP_001182192.1:p.(Leu746Gln)	NC_000010.10:g.102770409A>T	(Likely) benign	1 lab	365ec901b1
21:45714395 AIRE C>T	21	45714395	45714395	C	T	AIRE				NC_000021.8:g.45714395C>T	(Likely) benign	1 lab	3661692eb6
1:196964844 CFHR5 T>A	1	196964844	196964844	T	A	CFHR5	c.608-3T>A	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196964844T>A	VUS	1 lab	3661fb14f7
X:107977701 IRS4 T>C	X	107977701	107977701	T	C	IRS4	c.1874A>G	NM_003604.2	NP_003595.1:p.(Gln625Arg)	NC_000023.10:g.107977701T>C	(Likely) benign	1 lab	3664cd7029
7:107599768 LAMB1 G>A	7	107599768	107599768	G	A	LAMB1	c.2616C>T	NM_002291.2	NP_002282.2:p.(His872=)	NC_000007.13:g.107599768G>A	(Likely) benign	1 lab	36653b611b
X:131212087 FRMD7 G>A	X	131212087	131212087	G	A	FRMD7	c.1958C>T	NM_194277.2	NP_919253.1:p.(Ser653Phe)	NC_000023.10:g.131212087G>A	VUS	1 lab	3667930d8f
18:7011445 LAMA1 C>G	18	7011445	7011445	C	G	LAMA1	c.3541G>C	NM_005559.3	NP_005550.2:p.(Val1181Leu)	NC_000018.9:g.7011445C>G	VUS	1 lab	36687e9f28
7:42063195 GLI3 C>T	7	42063195	42063195	C	T	GLI3	c.1369G>A	NM_000168.5	NP_000159.3:p.(Gly457Arg)	NC_000007.13:g.42063195C>T	VUS	1 lab	3668e7e17d
22:18567953 PEX26 T>C	22	18567953	18567953	T	C	PEX26	c.743T>C	NM_001127649.2	NP_001121121.1:p.(Phe248Ser)	NC_000022.10:g.18567953T>C	VUS	1 lab	3669a111b6
19:36580009 WDR62 T>G	19	36580009	36580009	T	G	WDR62	c.1836+2T>G	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36580009T>G	VUS	1 lab	366a2a3d3e
17:29585417 NF1 TC>T	17	29585417	29585419	TC	T	NF1	c.4231del	NM_001042492.3	NP_001035957.1:p.(Leu1411SerfsTer17)	NC_000017.10:g.29585419del	(Likely) pathogenic	1 lab	366b8cfe2c
21:46875615 COL18A1 A>G	21	46875615	46875615	A	G	COL18A1	c.171A>G	NM_030582.4	NP_085059.2:p.(Thr57=)	NC_000021.8:g.46875615A>G	(Likely) benign	1 lab	366bd2c193
5:89981804 ADGRV1 C>T	5	89981804	89981804	C	T	ADGRV1	c.6482C>T	NM_032119.4	NP_115495.3:p.(Ala2161Val)	NC_000005.9:g.89981804C>T	VUS	1 lab	366caff3e5
12:124352622 DNAH10 C>T	12	124352622	124352622	C	T	DNAH10	c.7121C>T	NM_207437.3	NP_997320.2:p.(Thr2374Ile)	NC_000012.11:g.124352622C>T	(Likely) benign	1 lab	366e73ece8
4:88535500 DSPP T>C	4	88535500	88535500	T	C	DSPP	c.1686T>C	NM_014208.3	NP_055023.2:p.(Asp562=)	NC_000004.11:g.88535500T>C	(Likely) benign	1 lab	366f8a3421
3:167250675 WDR49 G>T	3	167250675	167250675	G	T	WDR49	c.2012C>A	NM_001348951.1	NP_001335880.1:p.(Ser671Ter)	NC_000003.11:g.167250675G>T	VUS	1 lab	36708f85f3
10:114911638 TCF7L2 C>T	10	114911638	114911638	C	T	TCF7L2	c.1087C>T	NM_030756.5	NP_110383.2:p.(Arg363Trp)	NC_000010.10:g.114911638C>T	VUS	1 lab	ead5681360
16:71021849 HYDIN T>C	16	71021849	71021849	T	C	HYDIN	c.4172A>G	NM_001270974.2	NP_001257903.1:p.(Lys1391Arg)	NC_000016.9:g.71021849T>C	(Likely) benign	1 lab	3672dd6367
5:127640662 FBN2 C>T	5	127640662	127640662	C	T	FBN2	c.5787G>A	NM_001999.3	NP_001990.2:p.(Gln1929=)	NC_000005.9:g.127640662C>T	(Likely) benign	1 lab	3674ab032e
1:236925811 ACTN2 C>T	1	236925811	236925811	C	T	ACTN2	c.2577C>T	NM_001103.3	NP_001094.1:p.(Ala859=)	NC_000001.10:g.236925811C>T	(Likely) benign	1 lab	3674e5cc5a
15:23892455 MAGEL2 C>T	15	23892455	23892455	C	T	MAGEL2	c.435G>A	NM_019066.4	NP_061939.3:p.(Pro145=)	NC_000015.9:g.23892455C>T	(Likely) benign	1 lab	36752e5caa
13:33635098 KL C>T	13	33635098	33635098	C	T	KL	c.1882C>T	NM_004795.3	NP_004786.2:p.(Arg628Cys)	NC_000013.10:g.33635098C>T	VUS	1 lab	3675f4a6d7
X:153593717 FLNA T>TG	X	153593717	153593721	T	TG	FLNA	c.1566dup	NM_001110556.2	NP_001104026.1:p.(Lys523GlnfsTer98)	NC_000023.10:g.153593721dup	(Likely) pathogenic	1 lab	3676552281
X:39933653 BCOR G>A	X	39933653	39933653	G	A	BCOR	c.946C>T	NM_001123385.1	NP_001116857.1:p.(Pro316Ser)	NC_000023.10:g.39933653G>A	(Likely) benign	1 lab	36777081a3
17:39551301 KRT31 G>A	17	39551301	39551301	G	A	KRT31	c.896C>T	NM_002277.2	NP_002268.2:p.(Thr299Met)	NC_000017.10:g.39551301G>A	VUS	1 lab	3677b20ba0
17:29557890 NF1 G>A	17	29557890	29557890	G	A	NF1	c.3144G>A	NM_000267.3	NP_000258.1:p.(Trp1048Ter)	NC_000017.10:g.29557890G>A	(Likely) pathogenic	1 lab	367e3ce7da
1:1469412 ATAD3A C>T	1	1469412	1469412	C	T	ATAD3A	c.1865C>T	NM_018188.4	NP_060658.3:p.(Ala622Val)	NC_000001.10:g.1469412C>T	(Likely) benign	1 lab	367ea346cc
15:77067392 SCAPER G>A	15	77067392	77067392	G	A	SCAPER	c.839C>T	NM_001353009.1	NP_001339938.1:p.(Ala280Val)	NC_000015.9:g.77067392G>A	(Likely) benign	1 lab	36814d3cd5
X:605212 SHOX G>A	X	605212	605212	G	A	SHOX	c.720G>A	NM_000451.3	NP_000442.1:p.(Met240Ile)	NC_000023.10:g.605212G>A	(Likely) benign	1 lab	3681932c93
2:179413570 TTN T>C	2	179413570	179413570	T	C	TTN	c.92783A>G	NM_001267550.1	NP_001254479.1:p.(Asp30928Gly)	NC_000002.11:g.179413570T>C	VUS	1 lab	3682307de8
1:152276453 FLG A>T	1	152276453	152276453	A	T	FLG	c.10909T>A	NM_002016.2	NP_002007.1:p.(Ser3637Thr)	NC_000001.10:g.152276453A>T	VUS	1 lab	ead6b7a1b9
10:103826484 HPS6 G>T	10	103826484	103826484	G	T	HPS6	c.1253G>T	NM_024747.5	NP_079023.2:p.(Gly418Val)	NC_000010.10:g.103826484G>T	VUS	1 lab	3682dffeba
2:208993050 CRYGC G>A	2	208993050	208993050	G	A	CRYGC	c.402C>T	NM_020989.3	NP_066269.1:p.(Tyr134=)	NC_000002.11:g.208993050G>A	(Likely) benign	1 lab	3682fe83e9
14:23866240 MYH6 C>T	14	23866240	23866240	C	T	MYH6	c.2100G>A	NM_002471.3	NP_002462.2:p.(Val700=)	NC_000014.8:g.23866240C>T	(Likely) benign	1 lab	36833a217f
14:99641238 BCL11B C>T	14	99641238	99641238	C	T	BCL11B	c.1935G>A	NM_138576.3	NP_612808.1:p.(Ala645=)	NC_000014.8:g.99641238C>T	(Likely) benign	1 lab	3683a66bc2
21:47805774 PCNT C>T	21	47805774	47805774	C	T	PCNT	c.3340C>T	NM_006031.5	NP_006022.3:p.(His1114Tyr)	NC_000021.8:g.47805774C>T	(Likely) benign	1 lab	3684763f3d
X:34149053 FAM47A C>T	X	34149053	34149053	C	T	FAM47A	c.1343G>A	NM_203408.3	NP_981953.2:p.(Arg448Gln)	NC_000023.10:g.34149053C>T	VUS	1 lab	36855a7a2e
12:132426506 PUS1 C>T	12	132426506	132426506	C	T	PUS1	c.1214C>T	NM_025215.5	NP_079491.2:p.(Thr405Met)	NC_000012.11:g.132426506C>T	(Likely) benign	1 lab	3685d574b4
11:1262609 MUC5B C>T	11	1262609	1262609	C	T	MUC5B	c.4499C>T	NM_002458.2	NP_002449.2:p.(Thr1500Ile)	NC_000011.9:g.1262609C>T	(Likely) benign	1 lab	36869c5a63
8:6302469 MCPH1 A>T	8	6302469	6302469	A	T	MCPH1	c.1226A>T	NM_024596.4	NP_078872.2:p.(Glu409Val)	NC_000008.10:g.6302469A>T	(Likely) benign	1 lab	3688c71097
6:72974696 RIMS1 TA>T	6	72974696	72974700	TA	T	RIMS1	c.3139del	NM_014989.7	NP_055804.2:p.(Thr1047HisfsTer31)	NC_000006.11:g.72974700del	(Likely) pathogenic	1 lab	36892157f7
7:140549946 BRAF C>T	7	140549946	140549946	C	T	BRAF	c.205G>A	NM_001354609.1	NP_001341538.1:p.(Gly69Ser)	NC_000007.13:g.140549946C>T	VUS	1 lab	36897b0e06
1:161833000 ATF6 G>C	1	161833000	161833000	G	C	ATF6	c.1617G>C	NM_007348.3	NP_031374.2:p.(Gly539=)	NC_000001.10:g.161833000G>C	(Likely) benign	1 lab	368ad014ae
10:16970285 CUBN G>C	10	16970285	16970285	G	C	CUBN	c.6142C>G	NM_001081.3	NP_001072.2:p.(Gln2048Glu)	NC_000010.10:g.16970285G>C	(Likely) benign	1 lab	368b525350
16:87723502 JPH3 C>T	16	87723502	87723502	C	T	JPH3	c.1536C>T	NM_020655.3	NP_065706.2:p.(Gly512=)	NC_000016.9:g.87723502C>T	(Likely) benign	1 lab	368c6a6b3e
15:28508156 HERC2 T>C	15	28508156	28508156	T	C	HERC2	c.2030A>G	NM_004667.5	NP_004658.3:p.(Gln677Arg)	NC_000015.9:g.28508156T>C	VUS	1 lab	368d92bb9c
15:62239428 VPS13C CACAG>C	15	62239428	62239435	CACAG	C	VPS13C	c.4836_4839del	NM_020821.3	NP_065872.1:p.(Cys1613IlefsTer20)	NC_000015.9:g.62239432_62239435del	(Likely) pathogenic	1 lab	368e398098
9:131115689 SLC27A4 C>T	9	131115689	131115689	C	T	SLC27A4	c.1198-5C>T	NM_005094.3	NP_005085.2:p.?	NC_000009.11:g.131115689C>T	(Likely) benign	1 lab	368f182a6e
3:46725334 ALS2CL T>G	3	46725334	46725334	T	G	ALS2CL	c.850A>C	NM_001190707.1	NP_001177636.1:p.(Thr284Pro)	NC_000003.11:g.46725334T>G	(Likely) benign	1 lab	3690089900
X:77271379 ATP7A G>A	X	77271379	77271379	G	A	ATP7A	c.2626+1G>A	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77271379G>A	(Likely) pathogenic	1 lab	36903e728e
19:15291040 NOTCH3 G>A	19	15291040	15291040	G	A	NOTCH3	c.3170C>T	NM_000435.2	NP_000426.2:p.(Ala1057Val)	NC_000019.9:g.15291040G>A	(Likely) benign	1 lab	369116984a
1:216373471 USH2A G>A	1	216373471	216373471	G	A	USH2A	c.3317-8C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216373471G>A	(Likely) benign	1 lab	3691720b6d
15:74908049 CLK3 A>G	15	74908049	74908049	A	G	CLK3	c.254A>G	NM_001130028.1	NP_001123500.1:p.(Glu85Gly)	NC_000015.9:g.74908049A>G	(Likely) benign	1 lab	36928c8872
20:55777600 BMP7 T>G	20	55777600	55777600	T	G	BMP7	c.691A>C	NM_001719.2	NP_001710.1:p.(Thr231Pro)	NC_000020.10:g.55777600T>G	(Likely) benign	1 lab	3692d03831
5:79033426 CMYA5 C>A	5	79033426	79033426	C	A	CMYA5	c.8838C>A	NM_153610.5	NP_705838.3:p.(Ile2946=)	NC_000005.9:g.79033426C>A	(Likely) benign	1 lab	369661a23f
17:73897309 MRPL38 A>G	17	73897309	73897309	A	G	MRPL38	c.637T>C	NM_032478.3	NP_115867.2:p.(Leu213=)	NC_000017.10:g.73897309A>G	(Likely) benign	1 lab	3697bcb8da
1:206224631 AVPR1B G>T	1	206224631	206224631	G	T	AVPR1B	c.191G>T	NM_000707.5	NP_000698.1:p.(Arg64Leu)	NC_000001.10:g.206224631G>T	(Likely) benign	1 lab	36998d73b9
X:135593726 HTATSF1 G>A	X	135593726	135593726	G	A	HTATSF1	c.1822G>A	NM_001163280.1	NP_001156752.1:p.(Glu608Lys)	NC_000023.10:g.135593726G>A	(Likely) benign	1 lab	369ba2f526
22:38120479 TRIOBP C>G	22	38120479	38120479	C	G	TRIOBP	c.1916C>G	NM_001039141.2	NP_001034230.1:p.(Pro639Arg)	NC_000022.10:g.38120479C>G	VUS	1 lab	369c6aec41
17:29586084 NF1 CA>C	17	29586084	29586088	CA	C	NF1	c.4371del	NM_001042492.3	NP_001035957.1:p.(Glu1458LysfsTer11)	NC_000017.10:g.29586088del	(Likely) pathogenic	1 lab	369dd20fa6
6:56479184 DST C>T	6	56479184	56479184	C	T	DST	c.4929G>A	NM_001144769.2	NP_001138241.1:p.(Lys1643=)	NC_000006.11:g.56479184C>T	(Likely) benign	1 lab	369f0aa93d
13:32972278 BRCA2 A>G	13	32972278	32972278	A	G	BRCA2	c.9649-21A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972278A>G	VUS	1 lab	36a2da9e87
14:93118244 RIN3 C>T	14	93118244	93118244	C	T	RIN3	c.850C>T	NM_024832.5	NP_079108.3:p.(Pro284Ser)	NC_000014.8:g.93118244C>T	VUS	1 lab	36a2ebda75
1:55522606 PCSK9 TC>T	1	55522606	55522612	TC	T	PCSK9	c.997-392del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522612del	(Likely) benign	1 lab	2fea489d88
1:47882212 FOXE3 G>T	1	47882212	47882212	G	T	FOXE3	c.225G>T	NM_012186.2	NP_036318.1:p.(Ser75=)	NC_000001.10:g.47882212G>T	(Likely) benign	1 lab	36a3344f62
4:15539741 CC2D2A C>T	4	15539741	15539741	C	T	CC2D2A	c.1984C>T	NM_001080522.2	NP_001073991.2:p.(Pro662Ser)	NC_000004.11:g.15539741C>T	VUS	1 lab	36a36c05bb
2:65296875 CEP68 C>T	2	65296875	65296875	C	T	CEP68	c.297C>T	NM_015147.3	NP_055962.2:p.(Leu99=)	NC_000002.11:g.65296875C>T	(Likely) benign	1 lab	36a3a84f85
9:2643832 VLDLR T>C	9	2643832	2643832	T	C	VLDLR	c.944-5T>C	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2643832T>C	(Likely) benign	1 lab	36a435111a
17:29587488 NF1 T>C	17	29587488	29587488	T	C	NF1	c.4469T>C	NM_000267.3	NP_000258.1:p.(Leu1490Pro)	NC_000017.10:g.29587488T>C	(Likely) pathogenic	1 lab	36a489b200
1:228467995 OBSCN C>T	1	228467995	228467995	C	T	OBSCN	c.9066C>T	NM_001271223.2	NP_001258152.2:p.(Asn3022=)	NC_000001.10:g.228467995C>T	(Likely) benign	1 lab	36a4c3eac2
20:62325721 RTEL1 T>G	20	62325721	62325721	T	G	RTEL1	c.2993-4T>G	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62325721T>G	VUS	1 lab	36a60c59f4
20:61297804 SLCO4A1 G>A	20	61297804	61297804	G	A	SLCO4A1	c.1349G>A	NM_016354.4	NP_057438.3:p.(Arg450Gln)	NC_000020.10:g.61297804G>A	VUS	1 lab	36a71a1157
19:55359436 KIR2DS4 G>A	19	55359436	55359436	G	A	KIR2DS4	c.*211G>A	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359436G>A	(Likely) benign	1 lab	36a7a36cde
X:119005332 RNF113A TCGC>T	X	119005332	119005337	TCGC	T	RNF113A	c.242_244del	NM_006978.3	NP_008909.1:p.(Gly81del)	NC_000023.10:g.119005335_119005337del	VUS	1 lab	ead870aa12
7:5780863 RNF216 C>T	7	5780863	5780863	C	T	RNF216	c.785G>A	NM_207111.3	NP_996994.1:p.(Arg262His)	NC_000007.13:g.5780863C>T	(Likely) benign	1 lab	36a93c3199
12:111351018 MYL2 A>G	12	111351018	111351018	A	G	MYL2	c.353+32T>C	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351018A>G	(Likely) benign	1 lab	36a96d9075
7:5800646 RNF216 G>A	7	5800646	5800646	G	A	RNF216	c.55C>T	NM_207111.3	NP_996994.1:p.(His19Tyr)	NC_000007.13:g.5800646G>A	VUS	1 lab	36ad278938
1:11838776 C1orf167 T>C	1	11838776	11838776	T	C	C1orf167	c.2399T>C	NM_001010881.1	NP_001010881.1:p.(Leu800Ser)	NC_000001.10:g.11838776T>C	VUS	1 lab	36ae0fe519
14:71575522 PCNX1 G>A	14	71575522	71575522	G	A	PCNX1	c.6503G>A	NM_014982.2	NP_055797.2:p.(Arg2168Gln)	NC_000014.8:g.71575522G>A	VUS	1 lab	36aecd49ff
2:62065822 FAM161A C>T	2	62065822	62065822	C	T	FAM161A	c.1602G>A	NM_001201543.1	NP_001188472.1:p.(Lys534=)	NC_000002.11:g.62065822C>T	(Likely) benign	1 lab	36af1d87a6
3:87325550 POU1F1 TGCA>T	3	87325550	87325554	TGCA	T	POU1F1	c.60_62del	NM_000306.4	NP_000297.1:p.(Ala21del)	NC_000003.11:g.87325552_87325554del	VUS	1 lab	36af6daca8
X:149671723 MAMLD1 C>A	X	149671723	149671723	C	A	MAMLD1	c.2220C>A	NM_005491.4	NP_005482.2:p.(Gly740=)	NC_000023.10:g.149671723C>A	(Likely) benign	1 lab	36b002cfe2
3:63981872 ATXN7 A>T	3	63981872	63981872	A	T	ATXN7	c.2374A>T	NM_000333.4	NP_000324.1:p.(Ser792Cys)	NC_000003.11:g.63981872A>T	VUS	1 lab	eadbd018d8
3:75786301 ZNF717 G>A	3	75786301	75786301	G	A	ZNF717				NC_000003.11:g.75786301G>A	VUS	1 lab	36b1ae6e4e
1:9323719 H6PD G>A	1	9323719	9323719	G	A	H6PD	c.1167G>A	NM_004285.3	NP_004276.2:p.(Ala389=)	NC_000001.10:g.9323719G>A	(Likely) benign	1 lab	36b317629b
15:49059603 CEP152 G>A	15	49059603	49059603	G	A	CEP152	c.2076C>T	NM_001194998.1	NP_001181927.1:p.(Ser692=)	NC_000015.9:g.49059603G>A	(Likely) benign	1 lab	36b5f25a08
22:39477587 APOBEC3G T>C	22	39477587	39477587	T	C	APOBEC3G	c.578T>C	NM_021822.4	NP_068594.1:p.(Leu193Pro)	NC_000022.10:g.39477587T>C	VUS	1 lab	36b6881c3e
7:21856131 DNAH11 C>A	7	21856131	21856131	C	A	DNAH11				NC_000007.13:g.21856131C>A	VUS	1 lab	36bae031b7
5:43677897 NNT C>G	5	43677897	43677897	C	G	NNT	c.2865C>G	NM_182977.3	NP_892022.2:p.(Gly955=)	NC_000005.9:g.43677897C>G	(Likely) benign	1 lab	36bafb04b3
20:31383306 DNMT3B C>T	20	31383306	31383306	C	T	DNMT3B	c.1218C>T	NM_006892.3	NP_008823.1:p.(Asn406=)	NC_000020.10:g.31383306C>T	(Likely) benign	1 lab	36bd6ccd43
1:201868539 LMOD1 T>G	1	201868539	201868539	T	G	LMOD1	c.1602A>C	NM_012134.3	NP_036266.2:p.(Pro534=)	NC_000001.10:g.201868539T>G	(Likely) benign	1 lab	36bf7ba49e
X:66765242 AR G>GGCA	X	66765242	66765261	G	GGCA	AR	c.271_273dup	NM_000044.4	NP_000035.2:p.(Gln91dup)	NC_000023.10:g.66765259_66765261dup	(Likely) benign	1 lab	36bfe17888
8:10474081 RP1L1 G>A	8	10474081	10474081	G	A	RP1L1	c.626C>T	NM_178857.5	NP_849188.4:p.(Ala209Val)	NC_000008.10:g.10474081G>A	(Likely) benign	1 lab	36c0fc1c2a
X:67652851 OPHN1 G>C	X	67652851	67652851	G	C	OPHN1	c.12C>G	NM_002547.2	NP_002538.1:p.(Pro4=)	NC_000023.10:g.67652851G>C	(Likely) benign	1 lab	36c1a641a6
22:50588089 MOV10L1 A>T	22	50588089	50588089	A	T	MOV10L1	c.2673A>T	NM_018995.3	NP_061868.1:p.(Ala891=)	NC_000022.10:g.50588089A>T	(Likely) benign	1 lab	36c206205f
4:88536471 DSPP A>G	4	88536471	88536471	A	G	DSPP	c.2657A>G	NM_014208.3	NP_055023.2:p.(Asn886Ser)	NC_000004.11:g.88536471A>G	(Likely) benign	1 lab	36c288325c
X:70596911 TAF1 C>T	X	70596911	70596911	C	T	TAF1	c.584C>T	NM_004606.5	NP_004597.3:p.(Pro195Leu)	NC_000023.10:g.70596911C>T	VUS	1 lab	eadfc866ca
3:123419203 MYLK T>C	3	123419203	123419203	T	C	MYLK	c.3112A>G	NM_053025.3	NP_444253.3:p.(Met1038Val)	NC_000003.11:g.123419203T>C	(Likely) benign	1 lab	36c3cc0e6d
2:219754772 WNT10A C>T	2	219754772	219754772	C	T	WNT10A	c.443C>T	NM_025216.3	NP_079492.2:p.(Ala148Val)	NC_000002.11:g.219754772C>T	(Likely) pathogenic	1 lab	eae0d98070
11:6647508 DCHS1 C>T	11	6647508	6647508	C	T	DCHS1				NC_000011.9:g.6647508C>T	(Likely) benign	1 lab	36c5f81623
5:89910716 ADGRV1 A>T	5	89910716	89910716	A	T	ADGRV1	c.87A>T	NM_032119.4	NP_115495.3:p.(Gly29=)	NC_000005.9:g.89910716A>T	(Likely) benign	1 lab	36c87f82ee
12:109617783 ACACB A>G	12	109617783	109617783	A	G	ACACB	c.1709A>G	NM_001093.3	NP_001084.3:p.(Tyr570Cys)	NC_000012.11:g.109617783A>G	VUS	1 lab	36c8d09314
7:6836367 RSPH10B2 G>A	7	6836367	6836367	G	A	RSPH10B2	c.2402G>A	NM_001099697.1	NP_001093167.1:p.(Arg801Gln)	NC_000007.13:g.6836367G>A	(Likely) benign	1 lab	36cb2b906a
1:226109699 PYCR2 T>C	1	226109699	226109699	T	C	PYCR2	c.399A>G	NM_013328.3	NP_037460.2:p.(Thr133=)	NC_000001.10:g.226109699T>C	(Likely) benign	1 lab	36cbcd9d50
13:110830243 COL4A1 C>T	13	110830243	110830243	C	T	COL4A1	c.2662G>A	NM_001845.5	NP_001836.3:p.(Gly888Arg)	NC_000013.10:g.110830243C>T	(Likely) pathogenic	1 lab	36cbf8c279
1:186269344 PRG4 G>A	1	186269344	186269344	G	A	PRG4	c.198G>A	NM_005807.4	NP_005798.3:p.(Ala66=)	NC_000001.10:g.186269344G>A	(Likely) benign	1 lab	36cde5034a
4:126239061 FAT4 G>A	4	126239061	126239061	G	A	FAT4	c.1495G>A	NM_001291303.1	NP_001278232.1:p.(Ala499Thr)	NC_000004.11:g.126239061G>A	VUS	1 lab	36d0f68517
20:17956474 MGME1 G>A	20	17956474	17956474	G	A	MGME1	c.704G>A	NM_001310338.1	NP_001297267.1:p.(Arg235Gln)	NC_000020.10:g.17956474G>A	(Likely) benign	1 lab	36d11a92d8
15:28465634 HERC2 G>A	15	28465634	28465634	G	A	HERC2	c.5809C>T	NM_004667.5	NP_004658.3:p.(Pro1937Ser)	NC_000015.9:g.28465634G>A	(Likely) benign	1 lab	36d20a278f
X:41203650 DDX3X C>T	X	41203650	41203650	C	T	DDX3X	c.1023C>T	NM_001356.4	NP_001347.3:p.(Cys341=)	NC_000023.10:g.41203650C>T	VUS	1 lab	36d675b2b3
6:32810027 PSMB8 G>T	6	32810027	32810027	G	T	PSMB8	c.409C>A	NM_004159.5	NP_004150.1:p.(Arg137=)	NC_000006.11:g.32810027G>T	(Likely) benign	1 lab	36d8d4a469
17:1582722 PRPF8 C>G	17	1582722	1582722	C	G	PRPF8	c.1290-18G>C	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1582722C>G	(Likely) benign	1 lab	3438f98cd0
17:29559090 NF1 G>C	17	29559090	29559090	G	C	NF1	c.3198-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559090G>C	(Likely) pathogenic	1 lab	36d948da6d
1:210857335 KCNH1 G>A	1	210857335	210857335	G	A	KCNH1	c.2258C>T	NM_172362.3	NP_758872.1:p.(Ala753Val)	NC_000001.10:g.210857335G>A	VUS	1 lab	eae82808f9
17:56291113 MKS1 T>C	17	56291113	56291113	T	C	MKS1	c.749+13A>G	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56291113T>C	(Likely) benign	1 lab	36dbf877e0
5:218480 SDHA G>A	5	218480	218480	G	A	SDHA	c.10G>A	NM_004168.3	NP_004159.2:p.(Val4Ile)	NC_000005.9:g.218480G>A	(Likely) benign	1 lab	36dc74871c
X:106411002 NUP62CL G>A	X	106411002	106411002	G	A	NUP62CL	c.71C>T	NM_017681.2	NP_060151.2:p.(Thr24Met)	NC_000023.10:g.106411002G>A	VUS	1 lab	36dcc73b35
21:46925294 COL18A1 G>A	21	46925294	46925294	G	A	COL18A1	c.3027G>A	NM_130445.2	NP_569712.2:p.(Pro1009=)	NC_000021.8:g.46925294G>A	(Likely) benign	1 lab	36dd3c8c8a
5:131671510 SLC22A4 GATT>G	5	131671510	131671517	GATT	G	SLC22A4	c.1266_1268del	NM_003059.3	NP_003050.2:p.(Tyr423del)	NC_000005.9:g.131671515_131671517del	VUS	1 lab	36dda874b4
10:104241812 ACTR1A G>A	10	104241812	104241812	G	A	ACTR1A	c.871C>T	NM_005736.3	NP_005727.1:p.(Arg291Trp)	NC_000010.10:g.104241812G>A	VUS	1 lab	36dde77415
X:48826367 KCND1 A>G	X	48826367	48826367	A	G	KCND1	c.312T>C	NM_004979.5	NP_004970.3:p.(His104=)	NC_000023.10:g.48826367A>G	(Likely) benign	1 lab	36de561231
13:41639425 WBP4 TA>T	13	41639425	41639446	TA	T	WBP4	c.262+23del	NM_007187.5	NP_009118.1:p.?	NC_000013.10:g.41639446del	(Likely) benign	1 lab	36dfbc9661
16:15808786 MYH11 G>A	16	15808786	15808786	G	A	MYH11	c.5787C>T	NM_001040113.1	NP_001035202.1:p.(Asn1929=)	NC_000016.9:g.15808786G>A	VUS	1 lab	36e03d80ac
16:70998744 HYDIN C>T	16	70998744	70998744	C	T	HYDIN	c.5675G>A	NM_001270974.2	NP_001257903.1:p.(Arg1892His)	NC_000016.9:g.70998744C>T	VUS	1 lab	36e1c8c17a
4:126241626 FAT4 A>G	4	126241626	126241626	A	G	FAT4	c.4060A>G	NM_001291303.1	NP_001278232.1:p.(Ile1354Val)	NC_000004.11:g.126241626A>G	VUS	1 lab	36e402b284
X:57620810 ZXDB G>A	X	57620810	57620810	G	A	ZXDB	c.2329G>A	NM_007157.3	NP_009088.1:p.(Gly777Arg)	NC_000023.10:g.57620810G>A	(Likely) benign	1 lab	36e575ae81
2:179499545 TTN C>T	2	179499545	179499545	C	T	TTN	c.42056G>A	NM_001267550.1	NP_001254479.1:p.(Arg14019His)	NC_000002.11:g.179499545C>T	VUS	1 lab	36e989d491
7:193222 FAM20C G>A	7	193222	193222	G	A	FAM20C	c.23G>A	NM_020223.4	NP_064608.2:p.(Arg8Gln)	NC_000007.13:g.193222G>A	(Likely) benign	1 lab	36eaba0927
2:179407057 TTN C>T	2	179407057	179407057	C	T	TTN	c.97426G>A	NM_001267550.1	NP_001254479.1:p.(Ala32476Thr)	NC_000002.11:g.179407057C>T	VUS	1 lab	36ec01363c
1:22207002 HSPG2 C>T	1	22207002	22207002	C	T	HSPG2	c.2052G>A	NM_001291860.1	NP_001278789.1:p.(Leu684=)	NC_000001.10:g.22207002C>T	(Likely) benign	1 lab	36ec38e95b
4:16025928 PROM1 T>C	4	16025928	16025928	T	C	PROM1	c.657A>G	NM_001145847.1	NP_001139319.1:p.(Thr219=)	NC_000004.11:g.16025928T>C	(Likely) benign	1 lab	36f0fd0c2b
2:109383620 RANBP2 A>G	2	109383620	109383620	A	G	RANBP2	c.6625A>G	NM_006267.4	NP_006258.3:p.(Thr2209Ala)	NC_000002.11:g.109383620A>G	(Likely) benign	1 lab	36f198f2ea
5:44305227 FGF10 G>T	5	44305227	44305227	G	T	FGF10	c.497C>A	NM_004465.1	NP_004456.1:p.(Ser166Ter)	NC_000005.9:g.44305227G>T	(Likely) pathogenic	1 lab	36f5bce5d5
5:90008144 ADGRV1 A>G	5	90008144	90008144	A	G	ADGRV1	c.9083A>G	NM_032119.4	NP_115495.3:p.(Asn3028Ser)	NC_000005.9:g.90008144A>G	(Likely) benign	1 lab	36fc287820
4:57871788 POLR2B C>T	4	57871788	57871788	C	T	POLR2B	c.1099C>T	NM_001303269.1	NP_001290198.1:p.(Leu367=)	NC_000004.11:g.57871788C>T	(Likely) benign	1 lab	36fd677a76
4:106164895 TET2 T>TACGGC	4	106164895	106164903	T	TACGGC	TET2	c.3767_3771dup	NM_001127208.2	NP_001120680.1:p.(Leu1258AlafsTer10)	NC_000004.11:g.106164899_106164903dup	(Likely) pathogenic	1 lab	36ff1a05ef
X:65417576 HEPH G>A	X	65417576	65417576	G	A	HEPH	c.1715G>A	NM_138737.4	NP_620074.3:p.(Arg572His)	NC_000023.10:g.65417576G>A	(Likely) benign	1 lab	36ffd90e9a
10:27822872 RAB18 G>T	10	27822872	27822872	G	T	RAB18	c.481G>T	NM_001256410.1	NP_001243339.1:p.(Asp161Tyr)	NC_000010.10:g.27822872G>T	VUS	1 lab	370396a2ba
3:123359186 MYLK G>A	3	123359186	123359186	G	A	MYLK	c.4785C>T	NM_053025.3	NP_444253.3:p.(Asn1595=)	NC_000003.11:g.123359186G>A	(Likely) benign	1 lab	3704c54dbe
13:23904304 SACS G>A	13	23904304	23904304	G	A	SACS	c.13711C>T	NM_014363.5	NP_055178.3:p.(Leu4571Phe)	NC_000013.10:g.23904304G>A	VUS	1 lab	37052e26d6
1:220101424 SLC30A10 C>T	1	220101424	220101424	C	T	SLC30A10	c.359G>A	NM_018713.2	NP_061183.2:p.(Gly120Asp)	NC_000001.10:g.220101424C>T	VUS	1 lab	3706cd4a1c
19:7606940 PNPLA6 A>AG	19	7606940	7606944	A	AG	PNPLA6	c.1270dup	NM_001166111.1	NP_001159583.1:p.(Asp424GlyfsTer18)	NC_000019.9:g.7606944dup	(Likely) pathogenic	1 lab	3707c3a1a5
X:39922939 BCOR G>C	X	39922939	39922939	G	C	BCOR	c.3769C>G	NM_001123385.1	NP_001116857.1:p.(Pro1257Ala)	NC_000023.10:g.39922939G>C	VUS	1 lab	3707eda48c
1:237753923 RYR2 G>A	1	237753923	237753923	G	A	RYR2	c.3808-17G>A	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237753923G>A	(Likely) benign	1 lab	3708123e66
17:56434919 RNF43 G>A	17	56434919	56434919	G	A	RNF43	c.2218C>T	NM_017763.5	NP_060233.3:p.(Pro740Ser)	NC_000017.10:g.56434919G>A	(Likely) benign	1 lab	370900b8d7
18:21437897 LAMA3 G>T	18	21437897	21437897	G	T	LAMA3	c.4226G>T	NM_198129.2	NP_937762.2:p.(Arg1409Ile)	NC_000018.9:g.21437897G>T	VUS	1 lab	370d5b3422
11:125831549 CDON C>A	11	125831549	125831549	C	A	CDON	c.3700+1G>T	NM_001243597.1	NP_001230526.1:p.?	NC_000011.9:g.125831549C>A	VUS	1 lab	370f2d6235
8:11994931 USP17L2 T>TCG	8	11994931	11994933	T	TCG	USP17L2	c.1337_1338dup	NM_201402.2	NP_958804.2:p.(Lys447ArgfsTer20)	NC_000008.10:g.11994932_11994933dup	VUS	1 lab	370fbbc0cb
1:2160721 SKI C>T	1	2160721	2160721	C	T	SKI	c.516C>T	NM_003036.3	NP_003027.1:p.(Pro172=)	NC_000001.10:g.2160721C>T	(Likely) benign	1 lab	370ff35df5
7:7412760 COL28A1 T>C	7	7412760	7412760	T	C	COL28A1	c.2777A>G	NM_001037763.2	NP_001032852.2:p.(Asn926Ser)	NC_000007.13:g.7412760T>C	(Likely) benign	1 lab	37117d41e3
11:48161049 PTPRJ A>G	11	48161049	48161049	A	G	PTPRJ	c.2164A>G	NM_002843.3	NP_002834.3:p.(Met722Val)	NC_000011.9:g.48161049A>G	(Likely) benign	1 lab	37127f4c34
16:69727321 NFAT5 C>T	16	69727321	69727321	C	T	NFAT5	c.3311C>T	NM_138714.4	NP_619728.2:p.(Ala1104Val)	NC_000016.9:g.69727321C>T	VUS	1 lab	eaeef5be56
6:149718875 TAB2 C>T	6	149718875	149718875	C	T	TAB2	c.1739C>T	NM_015093.5	NP_055908.1:p.(Ser580Leu)	NC_000006.11:g.149718875C>T	VUS	1 lab	3716f969e8
11:65318944 LTBP3 G>A	11	65318944	65318944	G	A	LTBP3	c.1550C>T	NM_001130144.2	NP_001123616.1:p.(Pro517Leu)	NC_000011.9:g.65318944G>A	(Likely) benign	1 lab	3719c6acaa
17:74084902 EXOC7 T>C	17	74084902	74084902	T	C	EXOC7	c.1303A>G	NM_001145297.3	NP_001138769.1:p.(Ile435Val)	NC_000017.10:g.74084902T>C	(Likely) benign	1 lab	371bbe47ca
5:90459690 ADGRV1 G>A	5	90459690	90459690	G	A	ADGRV1	c.18894G>A	NM_032119.4	NP_115495.3:p.(Arg6298=)	NC_000005.9:g.90459690G>A	(Likely) benign	1 lab	371cc05a77
1:204971736 NFASC A>G	1	204971736	204971736	A	G	NFASC	c.3149A>G	NM_001005388.2	NP_001005388.2:p.(Lys1050Arg)	NC_000001.10:g.204971736A>G	(Likely) benign	1 lab	371f3ca43c
2:17695342 RAD51AP2 G>A	2	17695342	17695342	G	A	RAD51AP2	c.3265C>T	NM_001099218.2	NP_001092688.1:p.(Pro1089Ser)	NC_000002.11:g.17695342G>A	(Likely) benign	1 lab	37207eb8b8
17:48269302 COL1A1 G>A	17	48269302	48269302	G	A	COL1A1	c.2028+39C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269302G>A	(Likely) benign	1 lab	eaf63ba1d2
12:57909122 MARS1 A>G	12	57909122	57909122	A	G	MARS1	c.2391+3A>G	NM_004990.3	NP_004981.2:p.?	NC_000012.11:g.57909122A>G	VUS	1 lab	372757d2d6
4:6718160 BLOC1S4 G>A	4	6718160	6718160	G	A	BLOC1S4	c.224G>A	NM_018366.2	NP_060836.1:p.(Gly75Glu)	NC_000004.11:g.6718160G>A	(Likely) benign	1 lab	372824eb15
7:94049557 COL1A2 GCTGCTGGTC>G	7	94049557	94049586	GCTGCTGGTC	G	COL1A2	c.2113_2121del	NM_000089.4	NP_000080.2:p.(Ala705_Pro707del)	NC_000007.13:g.94049578_94049586del	(Likely) pathogenic	1 lab	372937dfd1
X:12722594 FRMPD4 C>A	X	12722594	12722594	C	A	FRMPD4	c.1187C>A	NM_014728.3	NP_055543.2:p.(Pro396Gln)	NC_000023.10:g.12722594C>A	VUS	1 lab	372a75974f
12:49447431 KMT2D G>T	12	49447431	49447431	G	T	KMT2D	c.674-7C>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49447431G>T	VUS	1 lab	372a98a2e5
15:90185491 KIF7 C>T	15	90185491	90185491	C	T	KIF7	c.2337G>A	NM_198525.2	NP_940927.2:p.(Glu779=)	NC_000015.9:g.90185491C>T	(Likely) benign	1 lab	372b576238
22:38379465 SOX10 G>C	22	38379465	38379465	G	C	SOX10	c.327C>G	NM_006941.3	NP_008872.1:p.(Asn109Lys)	NC_000022.10:g.38379465G>C	(Likely) pathogenic	1 lab	372c3c42c7
X:153135686 L1CAM G>A	X	153135686	153135686	G	A	L1CAM	c.816C>T	NM_001278116.1	NP_001265045.1:p.(Pro272=)	NC_000023.10:g.153135686G>A	(Likely) benign	1 lab	372d682e70
1:197074315 ASPM C>T	1	197074315	197074315	C	T	ASPM	c.4066G>A	NM_018136.4	NP_060606.3:p.(Gly1356Arg)	NC_000001.10:g.197074315C>T	(Likely) benign	1 lab	372d8c112a
10:16911749 CUBN C>T	10	16911749	16911749	C	T	CUBN	c.9340G>A	NM_001081.4	NP_001072.2:p.(Gly3114Ser)	NC_000010.10:g.16911749C>T	(Likely) benign	1 lab	eaff4ce9c2
2:74590457 DCTN1 G>A	2	74590457	74590457	G	A	DCTN1	c.3309C>T	NM_004082.4	NP_004073.2:p.(His1103=)	NC_000002.11:g.74590457G>A	(Likely) benign	1 lab	37336e18aa
9:108366571 FKTN G>A	9	108366571	108366571	G	A	FKTN	c.49G>A	NM_001351502.1	NP_001338431.1:p.(Gly17Arg)	NC_000009.11:g.108366571G>A	VUS	1 lab	37345973e5
14:23884268 MYH7 C>T	14	23884268	23884268	C	T	MYH7	c.5495G>A	NM_000257.4	NP_000248.2:p.(Arg1832His)	NC_000014.8:g.23884268C>T	VUS	1 lab	eb00da6a1a
7:111409679 DOCK4 G>T	7	111409679	111409679	G	T	DOCK4	c.3707C>A	NM_014705.4	NP_055520.3:p.(Pro1236His)	NC_000007.13:g.111409679G>T	VUS	1 lab	eb0332f095
19:14675660 TECR C>T	19	14675660	14675660	C	T	TECR	c.597C>T	NM_001321170.1	NP_001308099.1:p.(Tyr199=)	NC_000019.9:g.14675660C>T	(Likely) benign	1 lab	37371de689
7:42005061 GLI3 G>A	7	42005061	42005061	G	A	GLI3	c.3610C>T	NM_000168.5	NP_000159.3:p.(Pro1204Ser)	NC_000007.13:g.42005061G>A	(Likely) benign	1 lab	3737d43428
X:127185449 ACTRT1 C>T	X	127185449	127185449	C	T	ACTRT1	c.737G>A	NM_138289.3	NP_612146.1:p.(Gly246Glu)	NC_000023.10:g.127185449C>T	VUS	1 lab	373874c879
20:60889716 LAMA5 G>A	20	60889716	60889716	G	A	LAMA5	c.8262C>T	NM_005560.4	NP_005551.3:p.(Ala2754=)	NC_000020.10:g.60889716G>A	(Likely) benign	1 lab	3738acbddd
14:21161381 ANG A>G	14	21161381	21161381	A	G	ANG	c.-18-325A>G	NM_001145.4	NP_001136.1:p.?	NC_000014.8:g.21161381A>G	(Likely) benign	1 lab	3739505aaa
21:47818143 PCNT C>G	21	47818143	47818143	C	G	PCNT	c.4564-6C>G	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47818143C>G	(Likely) benign	1 lab	373994adf9
3:69928525 MITF A>G	3	69928525	69928525	A	G	MITF	c.294A>G	NM_001354607.1	NP_001341536.1:p.(Glu98=)	NC_000003.11:g.69928525A>G	(Likely) benign	1 lab	3739a7817b
1:155210492 GBA1 A>G	1	155210492	155210492	A	G	GBA1	c.44T>C	NM_000157.4	NP_000148.2:p.(Leu15Ser)	NC_000001.10:g.155210492A>G	(Likely) benign	1 lab	3739b930d1
19:46271879 SIX5 T>G	19	46271879	46271879	T	G	SIX5	c.224A>C	NM_175875.4	NP_787071.2:p.(Glu75Ala)	NC_000019.9:g.46271879T>G	(Likely) benign	1 lab	373ab05b3e
19:50203947 CPT1C A>C	19	50203947	50203947	A	C	CPT1C	c.288A>C	NM_001199752.2	NP_001186681.1:p.(Gly96=)	NC_000019.9:g.50203947A>C	(Likely) benign	1 lab	373adf3335
13:78492713 EDNRB C>T	13	78492713	78492713	C	T	EDNRB	c.266G>A	NM_001201397.1	NP_001188326.1:p.(Ser89Asn)	NC_000013.10:g.78492713C>T	(Likely) benign	1 lab	373adfcd92
17:7606747 WRAP53 T>A	17	7606747	7606747	T	A	WRAP53	c.1590T>A	NM_018081.2	NP_060551.2:p.(Asp530Glu)	NC_000017.10:g.7606747T>A	(Likely) benign	1 lab	373ec76561
11:118372512 KMT2A C>T	11	118372512	118372512	C	T	KMT2A	c.6445C>T	NM_001197104.1	NP_001184033.1:p.(Arg2149Ter)	NC_000011.9:g.118372512C>T	(Likely) pathogenic	1 lab	373f1be088
16:1634377 IFT140 G>A	16	1634377	1634377	G	A	IFT140	c.1200C>T	NM_014714.3	NP_055529.2:p.(Ser400=)	NC_000016.9:g.1634377G>A	(Likely) benign	1 lab	373fd83633
10:31815886 ZEB1 CGAGAGAGA>C	10	31815886	31815897	CGAGAGAGA	C	ZEB1	c.3076_3083del	NM_001174096.2	NP_001167567.1:p.(Arg1026PhefsTer7)	NC_000010.10:g.31815890_31815897del	VUS	1 lab	3742ff629f
1:5924038 NPHP4 G>C	1	5924038	5924038	G	C	NPHP4	c.4052C>G	NM_015102.4	NP_055917.1:p.(Thr1351Ser)	NC_000001.10:g.5924038G>C	VUS	1 lab	3743a579d7
X:153223524 HCFC1 G>A	X	153223524	153223524	G	A	HCFC1	c.1980C>T	NM_005334.2	NP_005325.2:p.(Thr660=)	NC_000023.10:g.153223524G>A	(Likely) benign	1 lab	3745513c76
10:79396172 KCNMA1 G>A	10	79396172	79396172	G	A	KCNMA1	c.647C>T	NM_001322839.1	NP_001309768.1:p.(Ser216Leu)	NC_000010.10:g.79396172G>A	(Likely) benign	1 lab	3745fd3aa4
21:37833752 CLDN14 C>T	21	37833752	37833752	C	T	CLDN14	c.242G>A	NM_144492.2	NP_652763.1:p.(Arg81His)	NC_000021.8:g.37833752C>T	VUS	1 lab	374731fd6b
15:44859617 SPG11 C>T	15	44859617	44859617	C	T	SPG11	c.6754+5G>A	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44859617C>T	VUS	1 lab	374ad18ed7
7:127963597 RBM28 T>G	7	127963597	127963597	T	G	RBM28	c.1387A>C	NM_018077.2	NP_060547.2:p.(Met463Leu)	NC_000007.13:g.127963597T>G	(Likely) benign	1 lab	374b7f2f8b
10:73437318 CDH23 C>T	10	73437318	73437318	C	T	CDH23	c.1620C>T	NM_022124.5	NP_071407.4:p.(Gly540=)	NC_000010.10:g.73437318C>T	VUS	1 lab	374bf188f8
11:61912684 INCENP C>T	11	61912684	61912684	C	T	INCENP	c.1747C>T	NM_020238.2	NP_064623.2:p.(Arg583Trp)	NC_000011.9:g.61912684C>T	VUS	1 lab	374c25efe8
3:48607925 COL7A1 A>G	3	48607925	48607925	A	G	COL7A1	c.7353T>C	NM_000094.3	NP_000085.1:p.(Pro2451=)	NC_000003.11:g.48607925A>G	(Likely) benign	1 lab	374c744161
X:110006025 CHRDL1 T>C	X	110006025	110006025	T	C	CHRDL1	c.105A>G	NM_001143981.1	NP_001137453.1:p.(Thr35=)	NC_000023.10:g.110006025T>C	(Likely) benign	1 lab	374ce741e7
7:103270629 RELN G>A	7	103270629	103270629	G	A	RELN	c.2466-6C>T	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103270629G>A	(Likely) benign	1 lab	374d5d3e33
8:94808192 TMEM67 G>A	8	94808192	94808192	G	A	TMEM67	c.1837G>A	NM_153704.5	NP_714915.3:p.(Val613Ile)	NC_000008.10:g.94808192G>A	VUS	1 lab	374ed47078
3:27758918 EOMES G>A	3	27758918	27758918	G	A	EOMES	c.1704C>T	NM_005442.3	NP_005433.2:p.(Thr568=)	NC_000003.11:g.27758918G>A	(Likely) benign	1 lab	3750638dd9
X:47306954 ZNF41 T>A	X	47306954	47306954	T	A	ZNF41	c.2215A>T	NM_007130.3	NP_009061.1:p.(Ile739Leu)	NC_000023.10:g.47306954T>A	(Likely) benign	1 lab	3750d28685
19:18170800 IL12RB1 A>G	19	18170800	18170800	A	G	IL12RB1	c.1887T>C	NM_005535.1	NP_005526.1:p.(Thr629=)	NC_000019.9:g.18170800A>G	(Likely) benign	1 lab	375239645e
6:56535586 DST G>C	6	56535586	56535586	G	C	DST	c.968C>G	NM_001144769.2	NP_001138241.1:p.(Thr323Ser)	NC_000006.11:g.56535586G>C	(Likely) benign	1 lab	37532b1ca5
7:42018286 GLI3 C>A	7	42018286	42018286	C	A	GLI3	c.1559G>T	NM_000168.5	NP_000159.3:p.(Cys520Phe)	NC_000007.13:g.42018286C>A	VUS	1 lab	37533acf47
10:113924331 GPAM G>C	10	113924331	113924331	G	C	GPAM	c.1259C>G	NM_020918.5	NP_065969.3:p.(Ala420Gly)	NC_000010.10:g.113924331G>C	(Likely) benign	1 lab	375561c979
5:32725072 NPR3 T>C	5	32725072	32725072	T	C	NPR3	c.892+146T>C	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32725072T>C	(Likely) benign	1 lab	3756260a26
22:37770125 ELFN2 C>T	22	37770125	37770125	C	T	ELFN2	c.1450G>A	NM_052906.5	NP_443138.2:p.(Ala484Thr)	NC_000022.10:g.37770125C>T	(Likely) benign	1 lab	37565aa41f
11:111708976 ALG9 G>A	11	111708976	111708976	G	A	ALG9	c.1299C>T	NM_001077690.1	NP_001071158.1:p.(Phe433=)	NC_000011.9:g.111708976G>A	(Likely) benign	1 lab	375814f7a6
21:44270344 WDR4 C>T	21	44270344	44270344	C	T	WDR4	c.1054G>A	NM_033661.4	NP_387510.1:p.(Gly352Ser)	NC_000021.8:g.44270344C>T	(Likely) benign	1 lab	375854a8ed
X:114426095 RBMXL3 C>A	X	114426095	114426095	C	A	RBMXL3	c.2091C>A	NM_001145346.1	NP_001138818.1:p.(Ser697Arg)	NC_000023.10:g.114426095C>A	VUS	1 lab	37597dd079
8:61693716 CHD7 C>G	8	61693716	61693716	C	G	CHD7				NC_000008.10:g.61693716C>G	(Likely) benign	1 lab	375b1d7ddf
8:73921382 TERF1 C>T	8	73921382	73921382	C	T	TERF1	c.261C>T	NM_017489.2	NP_059523.2:p.(Cys87=)	NC_000008.10:g.73921382C>T	(Likely) benign	1 lab	375b46897c
16:50745017 NOD2 G>A	16	50745017	50745017	G	A	NOD2	c.1195G>A	NM_022162.1	NP_071445.1:p.(Asp399Asn)	NC_000016.9:g.50745017G>A	VUS	1 lab	375bc79ba6
7:42064932 GLI3 C>CG	7	42064932	42064935	C	CG	GLI3	c.1286dup	NM_000168.5	NP_000159.3:p.(Met430AspfsTer12)	NC_000007.13:g.42064935dup	(Likely) pathogenic	1 lab	375c7fc033
14:76966336 ESRRB G>A	14	76966336	76966336	G	A	ESRRB	c.1427G>A	NM_004452.3	NP_004443.3:p.(Arg476His)	NC_000014.8:g.76966336G>A	(Likely) benign	1 lab	375ce16891
X:134978455 SAGE1 T>C	X	134978455	134978455	T	C	SAGE1	c.54T>C	NM_018666.2	NP_061136.2:p.(His18=)	NC_000023.10:g.134978455T>C	(Likely) benign	1 lab	375e02a91e
20:2639418 IDH3B G>C	20	2639418	2639418	G	C	IDH3B	c.1137C>G	NM_006899.4	NP_008830.2:p.(His379Gln)	NC_000020.10:g.2639418G>C	VUS	1 lab	375e0a30a7
15:75648967 MAN2C1 T>C	15	75648967	75648967	T	C	MAN2C1	c.2768A>G	NM_001256494.2	NP_001243423.1:p.(Tyr923Cys)	NC_000015.9:g.75648967T>C	VUS	1 lab	eb0633459b
11:70644566 SHANK2 G>A	11	70644566	70644566	G	A	SHANK2	c.1759C>T	NM_012309.4	NP_036441.2:p.(Pro587Ser)	NC_000011.9:g.70644566G>A	(Likely) benign	1 lab	375fac5f45
13:41902884 NAA16 G>T	13	41902884	41902884	G	T	NAA16	c.716G>T	NM_024561.5	NP_078837.3:p.(Arg239Ile)	NC_000013.10:g.41902884G>T	VUS	1 lab	375fe72917
10:78704693 KCNMA1 C>A	10	78704693	78704693	C	A	KCNMA1	c.2566G>T	NM_002247.4	NP_002238.2:p.(Ala856Ser)	NC_000010.10:g.78704693C>A	VUS	1 lab	eb0ad92540
14:96001432 GLRX5 C>A	14	96001432	96001432	C	A	GLRX5	c.6C>A	NM_016417.2	NP_057501.2:p.(Ser2Arg)	NC_000014.8:g.96001432C>A	VUS	1 lab	37609accf3
9:132581083 TOR1A G>A	9	132581083	132581083	G	A	TOR1A	c.561C>T	NM_000113.2	NP_000104.1:p.(Leu187=)	NC_000009.11:g.132581083G>A	(Likely) benign	1 lab	3760e7e716
9:14658845 ZDHHC21 G>A	9	14658845	14658845	G	A	ZDHHC21	c.406C>T	NM_001354118.1	NP_001341047.1:p.(Leu136=)	NC_000009.11:g.14658845G>A	(Likely) benign	1 lab	37619192a8
10:123278339 FGFR2 G>A	10	123278339	123278339	G	A	FGFR2	c.944C>T	NM_022970.3	NP_075259.4:p.(Ser315Leu)	NC_000010.10:g.123278339G>A	(Likely) benign	1 lab	3761e5e79e
16:29506913 NPIPB12 C>A	16	29506913	29506913	C	A	NPIPB12	c.136G>T	NM_001355401.1	NP_001342330.1:p.(Ala46Ser)	NC_000016.9:g.29506913C>A	VUS	1 lab	3761f7920f
3:135863898 PPP2R3A G>A	3	135863898	135863898	G	A	PPP2R3A	c.3343G>A	NM_002718.4	NP_002709.2:p.(Glu1115Lys)	NC_000003.11:g.135863898G>A	VUS	1 lab	3762bae44c
17:30800963 PSMD11 C>T	17	30800963	30800963	C	T	PSMD11	c.788C>T	NM_001270482.1	NP_001257411.1:p.(Thr263Ile)	NC_000017.10:g.30800963C>T	VUS	1 lab	377cf74788
1:202915718 ADIPOR1 C>T	1	202915718	202915718	C	T	ADIPOR1	c.279G>A	NM_001290557.1	NP_001277486.1:p.(Arg93=)	NC_000001.10:g.202915718C>T	(Likely) benign	1 lab	3765130eeb
17:29676218 NF1 A>T	17	29676218	29676218	A	T	NF1	c.7207A>T	NM_000267.3	NP_000258.1:p.(Arg2403Ter)	NC_000017.10:g.29676218A>T	(Likely) pathogenic	1 lab	37651a0423
17:29588825 NF1 CTG>C	17	29588825	29588827	CTG	C	NF1	c.4675_4676del	NM_001042492.3	NP_001035957.1:p.(Trp1559ValfsTer4)	NC_000017.10:g.29588826_29588827del	(Likely) pathogenic	1 lab	37659a9d2d
19:3771789 RAX2 T>TG	19	3771789	3771796	T	TG	RAX2	c.89dup	NM_001319074.1	NP_001306003.1:p.(Ala31SerfsTer74)	NC_000019.9:g.3771796dup	(Likely) pathogenic	1 lab	3766e26ed4
1:160100337 ATP1A2 C>CG	1	160100337	160100340	C	CG	ATP1A2	c.1780dup	NM_000702.2	NP_000693.1:p.(Ala594GlyfsTer42)	NC_000001.10:g.160100340dup	VUS	1 lab	37670d9774
4:15601237 CC2D2A C>T	4	15601237	15601237	C	T	CC2D2A	c.4582C>T	NM_001080522.2	NP_001073991.2:p.(Arg1528Cys)	NC_000004.11:g.15601237C>T	(Likely) pathogenic	1 lab	3767c6015c
17:78305960 RNF213 A>G	17	78305960	78305960	A	G	RNF213	c.3672A>G	NM_001256071.2	NP_001243000.2:p.(Ile1224Met)	NC_000017.10:g.78305960A>G	(Likely) benign	1 lab	3768a110e7
17:29559122 NF1 G>GT	17	29559122	29559125	G	GT	NF1	c.3232dup	NM_000267.3	NP_000258.1:p.(Ser1078PhefsTer11)	NC_000017.10:g.29559125dup	(Likely) pathogenic	1 lab	376937b167
16:88496809 ZNF469 C>T	16	88496809	88496809	C	T	ZNF469				NC_000016.9:g.88496809C>T	(Likely) benign	1 lab	376a35d7bb
12:1992159 CACNA2D4 G>A	12	1992159	1992159	G	A	CACNA2D4	c.1359C>T	NM_172364.4	NP_758952.4:p.(Tyr453=)	NC_000012.11:g.1992159G>A	(Likely) benign	1 lab	376aeaafa1
19:1003240 GRIN3B C>T	19	1003240	1003240	C	T	GRIN3B	c.538C>T	NM_138690.3	NP_619635.1:p.(Arg180Cys)	NC_000019.9:g.1003240C>T	VUS	1 lab	eb0d1dc45d
9:139739247 AJM1 G>A	9	139739247	139739247	G	A	AJM1	c.381G>A	NM_001080482.3	NP_001073951.2:p.(Glu127=)	NC_000009.11:g.139739247G>A	(Likely) benign	1 lab	376be217a5
19:18266816 PIK3R2 G>A	19	18266816	18266816	G	A	PIK3R2	c.127G>A	NM_005027.3	NP_005018.1:p.(Val43Met)	NC_000019.9:g.18266816G>A	(Likely) benign	1 lab	376c0dbbc8
22:24109607 CHCHD10 G>A	22	24109607	24109607	G	A	CHCHD10	c.215C>T	NM_001301339.1	NP_001288268.1:p.(Ala72Val)	NC_000022.10:g.24109607G>A	VUS	1 lab	376d44bafb
17:72915871 USH1G C>G	17	72915871	72915871	C	G	USH1G	c.1060G>C	NM_173477.4	NP_775748.2:p.(Asp354His)	NC_000017.10:g.72915871C>G	VUS	1 lab	376edf1dac
17:44109563 KANSL1 C>CA	17	44109563	44109566	C	CA	KANSL1	c.2939dup	NM_001193466.1	NP_001180395.1:p.(Leu980PhefsTer11)	NC_000017.10:g.44109566dup	(Likely) pathogenic	1 lab	376f16f6a8
X:153296899 MECP2 G>A	X	153296899	153296899	G	A	MECP2	c.380C>T	NM_004992.3	NP_004983.1:p.(Pro127Leu)	NC_000023.10:g.153296899G>A	(Likely) pathogenic	1 lab	376fee101c
17:27068463 NEK8 C>T	17	27068463	27068463	C	T	NEK8	c.1924C>T	NM_178170.3	NP_835464.1:p.(Arg642Ter)	NC_000017.10:g.27068463C>T	(Likely) pathogenic	1 lab	3770a0861e
2:103340244 SLC67A2 G>A	2	103340244	103340244	G	A	SLC67A2	c.369C>T	NM_001322080.1	NP_001309009.1:p.(Pro123=)	NC_000002.11:g.103340244G>A	(Likely) benign	1 lab	3770b9af94
11:6651294 DCHS1 A>G	11	6651294	6651294	A	G	DCHS1				NC_000011.9:g.6651294A>G	(Likely) benign	1 lab	3771ee792c
11:62294450 AHNAK C>T	11	62294450	62294450	C	T	AHNAK	c.7439G>A	NM_001620.2	NP_001611.1:p.(Gly2480Asp)	NC_000011.9:g.62294450C>T	VUS	1 lab	3773957ca9
1:2319709 MORN1 C>T	1	2319709	2319709	C	T	MORN1	c.216G>A	NM_024848.3	NP_079124.1:p.(Thr72=)	NC_000001.10:g.2319709C>T	(Likely) benign	1 lab	37739b4118
4:155241686 DCHS2 G>A	4	155241686	155241686	G	A	DCHS2	c.4865C>T	NM_001358235.1	NP_001345164.1:p.(Ser1622Phe)	NC_000004.11:g.155241686G>A	VUS	1 lab	3773f4df91
19:55558760 RDH13 G>A	19	55558760	55558760	G	A	RDH13	c.542C>T	NM_138412.3	NP_612421.1:p.(Thr181Ile)	NC_000019.9:g.55558760G>A	(Likely) benign	1 lab	37745ef692
2:74076622 STAMBP GA>G	2	74076622	74076632	GA	G	STAMBP	c.867+18del	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74076632del	(Likely) benign	1 lab	3774d85800
X:102973929 GLRA4 A>G	X	102973929	102973929	A	G	GLRA4	c.989T>C	NM_001172285.1	NP_001165756.1:p.(Ile330Thr)	NC_000023.10:g.102973929A>G	VUS	1 lab	37754ebfda
9:131010888 DNM1 C>T	9	131010888	131010888	C	T	DNM1	c.1932C>T	NM_001288738.1	NP_001275667.1:p.(Ser644=)	NC_000009.11:g.131010888C>T	(Likely) benign	1 lab	3775a9ce98
11:2639938 KCNQ1OT1 G>C	11	2639938	2639938	G	C	KCNQ1OT1	n.81291C>G	NR_002728.3		NC_000011.9:g.2639938G>C	VUS	1 lab	eb10a69ae0
16:76592481 CNTNAP4 A>G	16	76592481	76592481	A	G	CNTNAP4	c.2412A>G	NM_001322187.1	NP_001309116.1:p.(Ala804=)	NC_000016.9:g.76592481A>G	(Likely) benign	1 lab	37770403b0
13:32937270 BRCA2 C>G	13	32937270	32937270	C	G	BRCA2	c.7977-46C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937270C>G	(Likely) benign	1 lab	3777151858
X:47486626 CFP G>A	X	47486626	47486626	G	A	CFP	c.680C>T	NM_002621.2	NP_002612.1:p.(Pro227Leu)	NC_000023.10:g.47486626G>A	VUS	1 lab	3777387fdc
1:216138826 USH2A G>A	1	216138826	216138826	G	A	USH2A	c.6958-5C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216138826G>A	(Likely) benign	1 lab	37780e76c8
10:88478598 LDB3 G>A	10	88478598	88478598	G	A	LDB3	c.1987G>A	NM_001171610.1	NP_001165081.1:p.(Glu663Lys)	NC_000010.10:g.88478598G>A	VUS	1 lab	3778adc457
1:161136977 PPOX C>T	1	161136977	161136977	C	T	PPOX	c.175C>T	NM_000309.4	NP_000300.1:p.(Arg59Trp)	NC_000001.10:g.161136977C>T	(Likely) pathogenic	1 lab	377c9f7022
5:89953815 ADGRV1 C>T	5	89953815	89953815	C	T	ADGRV1	c.4472C>T	NM_032119.4	NP_115495.3:p.(Thr1491Met)	NC_000005.9:g.89953815C>T	VUS	1 lab	377d308ea9
2:179547473 TTN G>A	2	179547473	179547473	G	A	TTN	c.33045C>T	NM_001267550.1	NP_001254479.1:p.(Tyr11015=)	NC_000002.11:g.179547473G>A	(Likely) benign	1 lab	377e9467c9
12:53069524 KRT1 A>C	12	53069524	53069524	A	C	KRT1	c.1480T>G	NM_006121.4	NP_006112.3:p.(Ser494Ala)	NC_000012.11:g.53069524A>C	VUS	1 lab	eb12d6ad1d
2:179432475 TTN A>C	2	179432475	179432475	A	C	TTN	c.78384T>G	NM_001267550.1	NP_001254479.1:p.(Arg26128=)	NC_000002.11:g.179432475A>C	(Likely) benign	1 lab	377f1773bc
17:29683524 NF1 TA>T	17	29683524	29683528	TA	T	NF1	c.7666del	NM_001042492.3	NP_001035957.1:p.(Arg2556GlyfsTer14)	NC_000017.10:g.29683528del	(Likely) pathogenic	1 lab	377f9b7d43
8:27327404 CHRNA2 G>A	8	27327404	27327404	G	A	CHRNA2	c.168C>T	NM_000742.3	NP_000733.2:p.(Thr56=)	NC_000008.10:g.27327404G>A	(Likely) benign	1 lab	3781b95dd6
16:24902246 SLC5A11 G>A	16	24902246	24902246	G	A	SLC5A11	c.616G>A	NM_001258411.2	NP_001245340.1:p.(Ala206Thr)	NC_000016.9:g.24902246G>A	VUS	1 lab	3781e756e9
8:10469765 RP1L1 G>A	8	10469765	10469765	G	A	RP1L1	c.1843C>T	NM_178857.5	NP_849188.4:p.(Leu615Phe)	NC_000008.10:g.10469765G>A	(Likely) benign	1 lab	37827a2f5b
2:217303194 SMARCAL1 A>C	2	217303194	217303194	A	C	SMARCAL1	c.1696A>C	NM_014140.3	NP_054859.2:p.(Met566Leu)	NC_000002.11:g.217303194A>C	(Likely) benign	1 lab	37848de648
X:31947739 DMD T>C	X	31947739	31947739	T	C	DMD	c.6517A>G	NM_004010.3	NP_004001.1:p.(Lys2173Glu)	NC_000023.10:g.31947739T>C	(Likely) benign	1 lab	378528ad86
17:42429540 GRN A>T	17	42429540	42429540	A	T	GRN	c.1337A>T	NM_002087.2	NP_002078.1:p.(Gln446Leu)	NC_000017.10:g.42429540A>T	(Likely) benign	1 lab	378535cc9e
15:44867141 SPG11 T>A	15	44867141	44867141	T	A	SPG11	c.5965A>T	NM_025137.3	NP_079413.3:p.(Asn1989Tyr)	NC_000015.9:g.44867141T>A	(Likely) benign	1 lab	3786baf5ce
7:117232172 CFTR G>A	7	117232172	117232172	G	A	CFTR	c.1951G>A	NM_000492.3	NP_000483.3:p.(Asp651Asn)	NC_000007.13:g.117232172G>A	VUS	1 lab	3788be2631
5:37181036 CPLANE1 G>A	5	37181036	37181036	G	A	CPLANE1	c.5493C>T	NM_023073.3	NP_075561.3:p.(Gly1831=)	NC_000005.9:g.37181036G>A	(Likely) benign	1 lab	378b96afce
16:88776362 CTU2 T>G	16	88776362	88776362	T	G	CTU2	c.160T>G	NM_001318507.1	NP_001305436.1:p.(Phe54Val)	NC_000016.9:g.88776362T>G	VUS	1 lab	378d1e5718
2:179610495 TTN C>T	2	179610495	179610495	C	T	TTN	c.16632G>A	NM_133379.4	NP_596870.2:p.(Thr5544=)	NC_000002.11:g.179610495C>T	(Likely) benign	1 lab	3791d443dd
1:94522226 ABCA4 G>A	1	94522226	94522226	G	A	ABCA4	c.2313C>T	NM_000350.2	NP_000341.2:p.(Thr771=)	NC_000001.10:g.94522226G>A	(Likely) benign	1 lab	3791d8205d
11:112019410 IL18 C>T	11	112019410	112019410	C	T	IL18	c.276G>A	NM_001562.3	NP_001553.1:p.(Gln92=)	NC_000011.9:g.112019410C>T	(Likely) benign	1 lab	379244f188
10:21141466 NEBL G>C	10	21141466	21141466	G	C	NEBL	c.1008+8C>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21141466G>C	(Likely) benign	1 lab	3794bec080
15:62274730 VPS13C C>T	15	62274730	62274730	C	T	VPS13C	c.1957G>A	NM_001018088.2	NP_001018098.1:p.(Gly653Arg)	NC_000015.9:g.62274730C>T	(Likely) benign	1 lab	3796fd41e6
10:50682120 ERCC6 A>G	10	50682120	50682120	A	G	ERCC6	c.2551T>C	NM_000124.2	NP_000115.1:p.(Trp851Arg)	NC_000010.10:g.50682120A>G	(Likely) pathogenic	1 lab	379ad2e2bf
16:89254532 CDH15 G>A	16	89254532	89254532	G	A	CDH15	c.817G>A	NM_004933.2	NP_004924.1:p.(Val273Ile)	NC_000016.9:g.89254532G>A	(Likely) benign	1 lab	379db95c76
17:74475014 RHBDF2 C>T	17	74475014	74475014	C	T	RHBDF2	c.633G>A	NM_024599.5	NP_078875.4:p.(Pro211=)	NC_000017.10:g.74475014C>T	(Likely) benign	1 lab	379e3dec4b
13:20716657 GJA3 G>T	13	20716657	20716657	G	T	GJA3	c.771C>A	NM_021954.3	NP_068773.2:p.(Pro257=)	NC_000013.10:g.20716657G>T	(Likely) benign	1 lab	379ec1c169
6:90354816 MDN1 T>C	6	90354816	90354816	T	C	MDN1	c.16520A>G	NM_014611.2	NP_055426.1:p.(Glu5507Gly)	NC_000006.11:g.90354816T>C	VUS	1 lab	379f483931
X:53602150 HUWE1 G>A	X	53602150	53602150	G	A	HUWE1	c.6062C>T	NM_031407.6	NP_113584.3:p.(Thr2021Ile)	NC_000023.10:g.53602150G>A	VUS	1 lab	37a13f44fe
20:3209254 SLC4A11 G>A	20	3209254	3209254	G	A	SLC4A11	c.2421C>T	NM_001174090.1	NP_001167561.1:p.(Pro807=)	NC_000020.10:g.3209254G>A	(Likely) benign	1 lab	37a340fbe9
12:80648360 OTOGL T>A	12	80648360	80648360	T	A	OTOGL	c.1414+10T>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80648360T>A	(Likely) benign	1 lab	37a6aa83db
X:151904507 CSAG1 C>T	X	151904507	151904507	C	T	CSAG1	c.5C>T	NM_153478.2	NP_705611.2:p.(Ser2Leu)	NC_000023.10:g.151904507C>T	(Likely) benign	1 lab	37a742d21a
1:3321412 PRDM16 G>A	1	3321412	3321412	G	A	PRDM16	c.994G>A	NM_022114.3	NP_071397.3:p.(Asp332Asn)	NC_000001.10:g.3321412G>A	VUS	1 lab	37a77e0af0
19:58355657 ZNF587B A>C	19	58355657	58355657	A	C	ZNF587B	c.1156A>C	NM_001204818.1	NP_001191747.1:p.(Arg386=)	NC_000019.9:g.58355657A>C	(Likely) benign	1 lab	37a93a78d3
8:61749420 CHD7 G>T	8	61749420	61749420	G	T	CHD7	c.4034G>T	NM_017780.4	NP_060250.2:p.(Arg1345Leu)	NC_000008.10:g.61749420G>T	VUS	1 lab	eb1e112828
16:3778568 CREBBP C>T	16	3778568	3778568	C	T	CREBBP	c.6480G>A	NM_004380.2	NP_004371.2:p.(Ala2160=)	NC_000016.9:g.3778568C>T	(Likely) benign	1 lab	37aa8edb12
14:102514844 DYNC1H1 C>T	14	102514844	102514844	C	T	DYNC1H1	c.13219-9C>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102514844C>T	(Likely) benign	1 lab	37ac7fb417
1:228403264 OBSCN C>A	1	228403264	228403264	C	A	OBSCN	c.1829C>A	NM_001271223.2	NP_001258152.2:p.(Ala610Asp)	NC_000001.10:g.228403264C>A	(Likely) benign	1 lab	37acf1aed8
11:67376043 NDUFV1 G>A	11	67376043	67376043	G	A	NDUFV1	c.176G>A	NM_007103.3	NP_009034.2:p.(Arg59Gln)	NC_000011.9:g.67376043G>A	VUS	1 lab	37ad7fbe80
X:153581281 FLNA G>A	X	153581281	153581281	G	A	FLNA	c.6238C>T	NM_001110556.2	NP_001104026.1:p.(Leu2080Phe)	NC_000023.10:g.153581281G>A	VUS	1 lab	37b0b27df2
6:143094843 HIVEP2 T>C	6	143094843	143094843	T	C	HIVEP2	c.1033A>G	NM_006734.4	NP_006725.3:p.(Ile345Val)	NC_000006.11:g.143094843T>C	(Likely) benign	1 lab	eb1f18cc2b
15:40915411 KNL1 A>G	15	40915411	40915411	A	G	KNL1	c.3027A>G	NM_170589.4	NP_733468.3:p.(Leu1009=)	NC_000015.9:g.40915411A>G	(Likely) benign	1 lab	37b2bbf174
15:78458537 IDH3A C>A	15	78458537	78458537	C	A	IDH3A	c.910C>A	NM_005530.3	NP_005521.1:p.(Pro304Thr)	NC_000015.9:g.78458537C>A	VUS	1 lab	37b39a86cd
9:32542420 TOPORS T>C	9	32542420	32542420	T	C	TOPORS	c.2103A>G	NM_005802.4	NP_005793.2:p.(Lys701=)	NC_000009.11:g.32542420T>C	(Likely) benign	1 lab	37b5191311
11:118959352 HMBS G>A	11	118959352	118959352	G	A	HMBS	c.95G>A	NM_000190.4	NP_000181.2:p.(Arg32His)	NC_000011.9:g.118959352G>A	VUS	1 lab	37b5769999
3:164700145 SI C>T	3	164700145	164700145	C	T	SI	c.5301G>A	NM_001041.3	NP_001032.2:p.(Thr1767=)	NC_000003.11:g.164700145C>T	(Likely) benign	1 lab	37b86e9d9f
X:48837839 GRIPAP1 C>A	X	48837839	48837839	C	A	GRIPAP1	c.1819G>T	NM_020137.4	NP_064522.3:p.(Gly607Cys)	NC_000023.10:g.48837839C>A	VUS	1 lab	37b8bb874c
19:9075064 MUC16 T>C	19	9075064	9075064	T	C	MUC16	c.12382A>G	NM_024690.2	NP_078966.2:p.(Arg4128Gly)	NC_000019.9:g.9075064T>C	(Likely) benign	1 lab	37b8c90d62
19:42880107 MEGF8 G>A	19	42880107	42880107	G	A	MEGF8	c.7718G>A	NM_001271938.2	NP_001258867.1:p.(Gly2573Asp)	NC_000019.9:g.42880107G>A	VUS	1 lab	37b9549d59
9:139412265 NOTCH1 C>T	9	139412265	139412265	C	T	NOTCH1	c.1380G>A	NM_017617.5	NP_060087.3:p.(Pro460=)	NC_000009.11:g.139412265C>T	(Likely) benign	1 lab	37b9c8ec3c
14:68274396 ZFYVE26 C>T	14	68274396	68274396	C	T	ZFYVE26	c.605G>A	NM_015346.3	NP_056161.2:p.(Arg202Gln)	NC_000014.8:g.68274396C>T	(Likely) benign	1 lab	37ba434aa6
12:88502844 CEP290 T>A	12	88502844	88502844	T	A	CEP290	c.2482A>T	NM_025114.3	NP_079390.3:p.(Ser828Cys)	NC_000012.11:g.88502844T>A	VUS	1 lab	37ba93a370
5:1221939 SLC6A19 C>G	5	1221939	1221939	C	G	SLC6A19	c.1825C>G	NM_001003841.2	NP_001003841.1:p.(His609Asp)	NC_000005.9:g.1221939C>G	(Likely) benign	1 lab	37bab185b8
1:185970794 HMCN1 A>G	1	185970794	185970794	A	G	HMCN1	c.4269A>G	NM_031935.2	NP_114141.2:p.(Pro1423=)	NC_000001.10:g.185970794A>G	(Likely) benign	1 lab	37bc6edc67
1:1459651 ATAD3A A>T	1	1459651	1459651	A	T	ATAD3A	c.1234-2A>T	NM_018188.4	NP_060658.3:p.?	NC_000001.10:g.1459651A>T	(Likely) pathogenic	1 lab	37bfc69ace
3:141231095 RASA2 G>A	3	141231095	141231095	G	A	RASA2	c.224G>A	NM_001303246.1	NP_001290175.1:p.(Arg75His)	NC_000003.11:g.141231095G>A	VUS	1 lab	37c01ecfaa
16:2121895 TSC2 ACTCCCTG>A	16	2121895	2121905	ACTCCCTG	A	TSC2	c.2061_2067del	NM_000548.5	NP_000539.2:p.(Leu688SerfsTer8)	NC_000016.9:g.2121899_2121905del	(Likely) pathogenic	1 lab	37c216f36f
17:29527494 NF1 C>T	17	29527494	29527494	C	T	NF1	c.943C>T	NM_000267.3	NP_000258.1:p.(Gln315Ter)	NC_000017.10:g.29527494C>T	(Likely) pathogenic	1 lab	37c22f43c7
15:41962086 MGA T>A	15	41962086	41962086	T	A	MGA	c.994T>A	NM_001164273.1	NP_001157745.1:p.(Phe332Ile)	NC_000015.9:g.41962086T>A	VUS	1 lab	37c3fae6d0
7:21920412 DNAH11 G>A	7	21920412	21920412	G	A	DNAH11				NC_000007.13:g.21920412G>A	(Likely) benign	1 lab	37c4ac01da
17:79893280 PYCR1 G>A	17	79893280	79893280	G	A	PYCR1	c.251C>T	NM_006907.3	NP_008838.2:p.(Ala84Val)	NC_000017.10:g.79893280G>A	(Likely) benign	1 lab	37c82469eb
17:29422382 NF1 G>T	17	29422382	29422382	G	T	NF1	c.55G>T	NM_000267.3	NP_000258.1:p.(Glu19Ter)	NC_000017.10:g.29422382G>T	(Likely) pathogenic	1 lab	37c9d6ddbd
X:70825544 GCNA A>T	X	70825544	70825544	A	T	GCNA	c.1431A>T	NM_052957.4	NP_443189.1:p.(Lys477Asn)	NC_000023.10:g.70825544A>T	VUS	1 lab	37cac1d1ce
9:135202962 SETX TTTC>T	9	135202962	135202967	TTTC	T	SETX	c.4020_4022del	NM_015046.7	NP_055861.3:p.(Lys1341del)	NC_000009.11:g.135202965_135202967del	VUS	1 lab	37cb79cfc9
X:108718667 GUCY2F G>A	X	108718667	108718667	G	A	GUCY2F	c.499C>T	NM_001522.2	NP_001513.2:p.(Arg167Trp)	NC_000023.10:g.108718667G>A	(Likely) benign	1 lab	37cb850a7c
10:73563169 CDH23 A>G	10	73563169	73563169	A	G	CDH23	c.7864A>G	NM_022124.5	NP_071407.4:p.(Ile2622Val)	NC_000010.10:g.73563169A>G	VUS	1 lab	37cdd607ee
12:48383556 COL2A1 G>A	12	48383556	48383556	G	A	COL2A1	c.1056C>T	NM_001844.4	NP_001835.3:p.(Pro352=)	NC_000012.11:g.48383556G>A	(Likely) benign	1 lab	37ce3391e5
8:61769060 CHD7 C>A	8	61769060	61769060	C	A	CHD7				NC_000008.10:g.61769060C>A	(Likely) benign	1 lab	37ce4d227e
X:5811332 NLGN4X C>G	X	5811332	5811332	C	G	NLGN4X	c.1977G>C	NM_001282145.1	NP_001269074.1:p.(Glu659Asp)	NC_000023.10:g.5811332C>G	(Likely) benign	1 lab	37cebda2f4
14:31553981 AP4S1 A>G	14	31553981	31553981	A	G	AP4S1	c.373A>G	NM_007077.4	NP_009008.2:p.(Ile125Val)	NC_000014.8:g.31553981A>G	VUS	1 lab	37cf455818
2:113888642 IL1RN A>G	2	113888642	113888642	A	G	IL1RN	c.124A>G	NM_001318914.1	NP_001305843.1:p.(Ile42Val)	NC_000002.11:g.113888642A>G	(Likely) benign	1 lab	37cf7e2007
X:31697697 DMD C>A	X	31697697	31697697	C	A	DMD	c.7298G>T	NM_004010.3	NP_004001.1:p.(Arg2433Ile)	NC_000023.10:g.31697697C>A	VUS	1 lab	37cfdeb52f
20:3888731 PANK2 A>T	20	3888731	3888731	A	T	PANK2	c.787A>T	NM_153638.2	NP_705902.2:p.(Ile263Phe)	NC_000020.10:g.3888731A>T	VUS	1 lab	37d115739e
14:105414534 AHNAK2 G>T	14	105414534	105414534	G	T	AHNAK2	c.7254C>A	NM_138420.3	NP_612429.2:p.(Gly2418=)	NC_000014.8:g.105414534G>T	(Likely) benign	1 lab	37d25fdf16
2:131220757 POTEI A>G	2	131220757	131220757	A	G	POTEI	c.2860T>C	NM_001277406.1	NP_001264335.1:p.(Trp954Arg)	NC_000002.11:g.131220757A>G	(Likely) benign	1 lab	37d31885b3
16:89986000 MC1R G>A	16	89986000	89986000	G	A	MC1R	c.334G>A	NM_002386.3	NP_002377.4:p.(Val112Met)	NC_000016.9:g.89986000G>A	(Likely) benign	1 lab	37d458182b
16:2034322 GFER C>T	16	2034322	2034322	C	T	GFER	c.103C>T	NM_005262.2	NP_005253.3:p.(Arg35Trp)	NC_000016.9:g.2034322C>T	VUS	1 lab	37da5a0aeb
1:45808833 TOE1 C>T	1	45808833	45808833	C	T	TOE1	c.992C>T	NM_025077.4	NP_079353.3:p.(Ala331Val)	NC_000001.10:g.45808833C>T	(Likely) benign	1 lab	37dbbe16da
2:179429803 TTN G>C	2	179429803	179429803	G	C	TTN	c.81056C>G	NM_001267550.1	NP_001254479.1:p.(Thr27019Ser)	NC_000002.11:g.179429803G>C	VUS	1 lab	37dbe01e50
8:24250787 ADAMDEC1 C>A	8	24250787	24250787	C	A	ADAMDEC1	c.220C>A	NM_014479.3	NP_055294.1:p.(Pro74Thr)	NC_000008.10:g.24250787C>A	(Likely) benign	1 lab	37e04aeeee
11:1269567 MUC5B G>T	11	1269567	1269567	G	T	MUC5B	c.11457G>T	NM_002458.2	NP_002449.2:p.(Met3819Ile)	NC_000011.9:g.1269567G>T	(Likely) benign	1 lab	37e09b5f6a
19:36595687 WDR62 G>A	19	36595687	36595687	G	A	WDR62	c.4329G>A	NM_001083961.1	NP_001077430.1:p.(Gln1443=)	NC_000019.9:g.36595687G>A	(Likely) benign	1 lab	37e0afcc03
8:144909660 PUF60 G>T	8	144909660	144909660	G	T	PUF60	c.30C>A	NM_001362896.1	NP_001349825.1:p.(Gly10=)	NC_000008.10:g.144909660G>T	(Likely) benign	1 lab	37e14186fb
X:107454968 COL4A6 C>G	X	107454968	107454968	C	G	COL4A6	c.444G>C	NM_001287758.1	NP_001274687.1:p.(Gly148=)	NC_000023.10:g.107454968C>G	(Likely) benign	1 lab	37e3f02b8a
4:74026998 ANKRD17 T>C	4	74026998	74026998	T	C	ANKRD17	c.615A>G	NM_032217.4	NP_115593.3:p.(Thr205=)	NC_000004.11:g.74026998T>C	(Likely) benign	1 lab	37e5c840d1
16:54967754 IRX5 A>G	16	54967754	54967754	A	G	IRX5	c.1421A>G	NM_005853.5	NP_005844.4:p.(Tyr474Cys)	NC_000016.9:g.54967754A>G	VUS	1 lab	37e6ef9c25
8:61765417 CHD7 C>CCGAT	8	61765417	61765422	C	CCGAT	CHD7	c.6135_6138dup	NM_017780.2	NP_060250.2:p.(Thr2047AspfsTer14)	NC_000008.10:g.61765419_61765422dup	(Likely) pathogenic	1 lab	37ea7654d1
12:133240657 POLE G>A	12	133240657	133240657	G	A	POLE	c.2639C>T	NM_006231.3	NP_006222.2:p.(Thr880Met)	NC_000012.11:g.133240657G>A	VUS	1 lab	37eacb95fc
15:23889177 MAGEL2 C>G	15	23889177	23889177	C	G	MAGEL2	c.3713G>C	NM_019066.4	NP_061939.3:p.(Ser1238Thr)	NC_000015.9:g.23889177C>G	VUS	1 lab	37ecc88740
3:42166943 TRAK1 C>T	3	42166943	42166943	C	T	TRAK1	c.123C>T	NM_001042646.3	NP_001036111.1:p.(Val41=)	NC_000003.11:g.42166943C>T	(Likely) benign	1 lab	37ed2f0538
7:128843378 SMO G>T	7	128843378	128843378	G	T	SMO	c.485G>T	NM_005631.5	NP_005622.1:p.(Gly162Val)	NC_000007.13:g.128843378G>T	VUS	1 lab	eb24ba32bc
16:89346889 ANKRD11 AGGCGGGAGG>A	16	89346889	89346904	AGGCGGGAGG	A	ANKRD11	c.6052_6060del	NM_013275.6	NP_037407.4:p.(Pro2018_Ala2020del)	NC_000016.9:g.89346896_89346904del	VUS	1 lab	37ef4d1445
X:91873553 PCDH11X C>T	X	91873553	91873553	C	T	PCDH11X	c.3658C>T	NM_032968.4	NP_116750.1:p.(His1220Tyr)	NC_000023.10:g.91873553C>T	VUS	1 lab	37f197ddc8
10:99623769 GOLGA7B A>G	10	99623769	99623769	A	G	GOLGA7B	c.221A>G	NM_001010917.3	NP_001010917.1:p.(Tyr74Cys)	NC_000010.10:g.99623769A>G	VUS	1 lab	37f575eff5
14:95577677 DICER1 G>A	14	95577677	95577677	G	A	DICER1	c.2233C>T	NM_030621.4	NP_085124.2:p.(Arg745Ter)	NC_000014.8:g.95577677G>A	(Likely) pathogenic	1 lab	37f67a5979
2:179463783 TTN G>C	2	179463783	179463783	G	C	TTN	c.56654C>G	NM_001267550.1	NP_001254479.1:p.(Pro18885Arg)	NC_000002.11:g.179463783G>C	VUS	1 lab	37f84567ef
15:100514619 ADAMTS17 C>T	15	100514619	100514619	C	T	ADAMTS17	c.3276G>A	NM_139057.3	NP_620688.2:p.(Pro1092=)	NC_000015.9:g.100514619C>T	(Likely) benign	1 lab	37f87a947e
6:44198103 SLC29A1 G>A	6	44198103	44198103	G	A	SLC29A1	c.474G>A	NM_001078177.1	NP_001071645.1:p.(Gln158=)	NC_000006.11:g.44198103G>A	(Likely) benign	1 lab	37f9500048
X:153689841 PLXNA3 C>T	X	153689841	153689841	C	T	PLXNA3	c.997C>T	NM_017514.4	NP_059984.3:p.(Arg333Trp)	NC_000023.10:g.153689841C>T	VUS	1 lab	37f9c9479d
4:109858976 COL25A1 T>G	4	109858976	109858976	T	G	COL25A1	c.696A>C	NM_198721.3	NP_942014.1:p.(Glu232Asp)	NC_000004.11:g.109858976T>G	VUS	1 lab	37fa4c51c5
X:37028339 FAM47C G>C	X	37028339	37028339	G	C	FAM47C	c.1856G>C	NM_001013736.2	NP_001013758.1:p.(Arg619Pro)	NC_000023.10:g.37028339G>C	(Likely) benign	1 lab	37fac40191
9:135781083 TSC1 A>G	9	135781083	135781083	A	G	TSC1	c.1882T>C	NM_000368.4	NP_000359.1:p.(Leu628=)	NC_000009.11:g.135781083A>G	(Likely) benign	1 lab	37fade8828
2:109400084 RANBP2 C>T	2	109400084	109400084	C	T	RANBP2	c.9402C>T	NM_006267.5	NP_006258.3:p.(Gly3134=)	NC_000002.11:g.109400084C>T	(Likely) benign	1 lab	eb2692335b
13:103506670 ERCC5 G>A	13	103506670	103506670	G	A	ERCC5	c.413G>A	NM_000123.3	NP_000114.2:p.(Arg138Gln)	NC_000013.10:g.103506670G>A	(Likely) benign	1 lab	37fbba1cb9
14:100380948 EML1 T>C	14	100380948	100380948	T	C	EML1	c.1723T>C	NM_001008707.1	NP_001008707.1:p.(Ser575Pro)	NC_000014.8:g.100380948T>C	(Likely) benign	1 lab	37fceb2bf5
3:47452825 PTPN23 G>A	3	47452825	47452825	G	A	PTPN23	c.3537G>A	NM_015466.3	NP_056281.1:p.(Glu1179=)	NC_000003.11:g.47452825G>A	(Likely) benign	1 lab	37ff6fcc8f
X:135314246 MAP7D3 A>G	X	135314246	135314246	A	G	MAP7D3	c.765T>C	NM_001173517.1	NP_001166988.1:p.(Ser255=)	NC_000023.10:g.135314246A>G	(Likely) benign	1 lab	37ffeb3849
7:104742547 KMT2E A>AACCAGAAACTGAAACTGC	7	104742547	104742567	A	AACCAGAAACTGAAACTGC	KMT2E	c.2105_2122dup	NM_182931.2	NP_891847.1:p.(Pro702_Ala707dup)	NC_000007.13:g.104742550_104742567dup	VUS	1 lab	3800de24cd
13:60558015 DIAPH3 T>C	13	60558015	60558015	T	C	DIAPH3	c.1368A>G	NM_001042517.1	NP_001035982.1:p.(Gln456=)	NC_000013.10:g.60558015T>C	(Likely) benign	1 lab	38010428ff
14:105609273 JAG2 C>T	14	105609273	105609273	C	T	JAG2	c.3476G>A	NM_002226.5	NP_002217.3:p.(Arg1159His)	NC_000014.8:g.105609273C>T	(Likely) benign	1 lab	380242b1d0
15:83502051 WHAMM G>A	15	83502051	83502051	G	A	WHAMM	c.2193G>A	NM_001080435.3	NP_001073904.1:p.(Ala731=)	NC_000015.9:g.83502051G>A	(Likely) benign	1 lab	3803b9dc74
4:128812773 PLK4 C>G	4	128812773	128812773	C	G	PLK4	c.1975C>G	NM_014264.4	NP_055079.3:p.(Leu659Val)	NC_000004.11:g.128812773C>G	VUS	1 lab	3803f4139e
12:40634334 LRRK2 A>G	12	40634334	40634334	A	G	LRRK2	c.621A>G	NM_198578.3	NP_940980.3:p.(Ile207Met)	NC_000012.11:g.40634334A>G	(Likely) benign	1 lab	380584f853
11:117241858 CEP164 C>T	11	117241858	117241858	C	T	CEP164	c.828C>T	NM_014956.4	NP_055771.4:p.(Ala276=)	NC_000011.9:g.117241858C>T	(Likely) benign	1 lab	3805d84901
16:30198755 CORO1A C>T	16	30198755	30198755	C	T	CORO1A	c.689C>T	NM_007074.3	NP_009005.1:p.(Ser230Leu)	NC_000016.9:g.30198755C>T	(Likely) benign	1 lab	3807407902
2:179439024 TTN C>T	2	179439024	179439024	C	T	TTN	c.71835G>A	NM_001267550.1	NP_001254479.1:p.(Trp23945Ter)	NC_000002.11:g.179439024C>T	(Likely) pathogenic	1 lab	380d4a6f84
2:111881396 BCL2L11 C>A	2	111881396	111881396	C	A	BCL2L11	c.74C>A	NM_001204108.1	NP_001191037.1:p.(Pro25His)	NC_000002.11:g.111881396C>A	VUS	1 lab	380d506f5b
15:30385632 GOLGA8J A>C	15	30385632	30385632	A	C	GOLGA8J	c.1829A>C	NM_001282472.1	NP_001269401.1:p.(His610Pro)	NC_000015.9:g.30385632A>C	(Likely) benign	1 lab	380d531a36
20:25062572 VSX1 C>A	20	25062572	25062572	C	A	VSX1	c.161G>T	NM_001256272.1	NP_001243201.1:p.(Gly54Val)	NC_000020.10:g.25062572C>A	VUS	1 lab	380fe8a66e
22:20050921 TANGO2 C>A	22	20050921	20050921	C	A	TANGO2	c.789C>A	NM_001322141.1	NP_001309070.1:p.(Ser263Arg)	NC_000022.10:g.20050921C>A	(Likely) benign	1 lab	3810cbfac0
3:123019050 ADCY5 G>A	3	123019050	123019050	G	A	ADCY5	c.2817C>T	NM_183357.2	NP_899200.1:p.(Ile939=)	NC_000003.11:g.123019050G>A	(Likely) benign	1 lab	38112a1a3b
X:131212828 FRMD7 T>G	X	131212828	131212828	T	G	FRMD7	c.1217A>C	NM_194277.2	NP_919253.1:p.(His406Pro)	NC_000023.10:g.131212828T>G	(Likely) benign	1 lab	3812b46e33
10:14964998 DCLRE1C A>G	10	14964998	14964998	A	G	DCLRE1C	c.683T>C	NM_001289079.1	NP_001276008.1:p.(Met228Thr)	NC_000010.10:g.14964998A>G	(Likely) benign	1 lab	38157701b9
5:149754377 TCOF1 G>T	5	149754377	149754377	G	T	TCOF1	c.1278+3G>T	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149754377G>T	VUS	1 lab	3815d309b8
15:40462260 BUB1B C>T	15	40462260	40462260	C	T	BUB1B	c.180-3C>T	NM_001211.5	NP_001202.4:p.?	NC_000015.9:g.40462260C>T	(Likely) benign	1 lab	3815f1aaa8
12:21960292 ABCC9 A>G	12	21960292	21960292	A	G	ABCC9	c.4437T>C	NM_020297.2	NP_064693.2:p.(Ile1479=)	NC_000012.11:g.21960292A>G	(Likely) benign	1 lab	381737ecd5
19:11169535 SMARCA4 C>T	19	11169535	11169535	C	T	SMARCA4	c.4605C>T	NM_001128844.1	NP_001122316.1:p.(Asn1535=)	NC_000019.9:g.11169535C>T	(Likely) benign	1 lab	38180aad23
2:234669473 UGT1A1 A>G	2	234669473	234669473	A	G	UGT1A1	c.540A>G	NM_000463.2	NP_000454.1:p.(Glu180=)	NC_000002.11:g.234669473A>G	(Likely) benign	1 lab	38198a9398
9:135772931 TSC1 G>A	9	135772931	135772931	G	A	TSC1	c.2692C>T	NM_000368.4	NP_000359.1:p.(Gln898Ter)	NC_000009.11:g.135772931G>A	(Likely) pathogenic	1 lab	381b1de08a
X:150155676 HMGB3 C>T	X	150155676	150155676	C	T	HMGB3	c.366C>T	NM_001301228.1	NP_001288157.1:p.(Asp122=)	NC_000023.10:g.150155676C>T	(Likely) benign	1 lab	381e0cf2ff
16:78143669 WWOX T>G	16	78143669	78143669	T	G	WWOX	c.173-6T>G	NM_016373.3	NP_057457.1:p.?	NC_000016.9:g.78143669T>G	(Likely) benign	1 lab	381ecf7090
11:640058 DRD4 CCCGGGGTCCCTGCG>C	11	640058	640072	CCCGGGGTCCCTGCG	C	DRD4	c.810_823del	NM_000797.4	NP_000788.2:p.(Arg271ProfsTer174)	NC_000011.9:g.640059_640072del	(Likely) pathogenic	1 lab	381f0ffcbf
17:29556993 NF1 G>T	17	29556993	29556993	G	T	NF1	c.2990+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556993G>T	(Likely) pathogenic	1 lab	381fcbbcf4
X:78216485 P2RY10 C>T	X	78216485	78216485	C	T	P2RY10	c.468C>T	NM_014499.4	NP_055314.1:p.(Ile156=)	NC_000023.10:g.78216485C>T	(Likely) benign	1 lab	38206e9353
15:85370756 ALPK3 C>A	15	85370756	85370756	C	A	ALPK3	c.830C>A	NM_020778.4	NP_065829.3:p.(Thr277Asn)	NC_000015.9:g.85370756C>A	VUS	1 lab	3822d68399
6:76751654 IMPG1 A>T	6	76751654	76751654	A	T	IMPG1	c.257T>A	NM_001563.3	NP_001554.2:p.(Met86Lys)	NC_000006.11:g.76751654A>T	VUS	1 lab	382402306f
9:77455094 TRPM6 C>T	9	77455094	77455094	C	T	TRPM6	c.390G>A	NM_017662.4	NP_060132.3:p.(Glu130=)	NC_000009.11:g.77455094C>T	(Likely) benign	1 lab	382447d8d2
X:13727165 RAB9A C>T	X	13727165	13727165	C	T	RAB9A	c.300C>T	NM_004251.4	NP_004242.1:p.(Asn100=)	NC_000023.10:g.13727165C>T	(Likely) benign	1 lab	382472382b
20:31369175 DNMT3B G>A	20	31369175	31369175	G	A	DNMT3B	c.159G>A	NM_006892.3	NP_008823.1:p.(Ser53=)	NC_000020.10:g.31369175G>A	(Likely) benign	1 lab	3826f2fc11
3:132244504 DNAJC13 A>G	3	132244504	132244504	A	G	DNAJC13	c.6111A>G	NM_015268.4	NP_056083.3:p.(Ala2037=)	NC_000003.11:g.132244504A>G	(Likely) benign	1 lab	3827d6aef8
11:17580670 OTOG G>A	11	17580670	17580670	G	A	OTOG	c.1211G>A	NM_001277269.1	NP_001264198.1:p.(Arg404Gln)	NC_000011.9:g.17580670G>A	VUS	1 lab	38283548c9
13:32945238 BRCA2 G>C	13	32945238	32945238	G	C	BRCA2	c.8632+1G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32945238G>C	(Likely) pathogenic	1 lab	eb2a411005
9:134021630 NUP214 A>G	9	134021630	134021630	A	G	NUP214	c.1884A>G	NM_005085.4	NP_005076.3:p.(Thr628=)	NC_000009.11:g.134021630A>G	(Likely) benign	1 lab	eb2bf4f579
8:145638933 SLC39A4 C>T	8	145638933	145638933	C	T	SLC39A4	c.1363G>A	NM_017767.2	NP_060237.2:p.(Glu455Lys)	NC_000008.10:g.145638933C>T	(Likely) benign	1 lab	3828b225bc
10:88428479 LDB3 G>A	10	88428479	88428479	G	A	LDB3	c.31G>A	NM_007078.2	NP_009009.1:p.(Gly11Arg)	NC_000010.10:g.88428479G>A	VUS	1 lab	38299fcca0
1:227223248 CDC42BPA G>A	1	227223248	227223248	G	A	CDC42BPA	c.3155C>T	NM_003607.4	NP_003598.2:p.(Pro1052Leu)	NC_000001.10:g.227223248G>A	VUS	1 lab	eb2e48f92b
9:124079441 GSN AGAG>A	9	124079441	124079446	AGAG	A	GSN	c.987_989del	NM_000177.5	NP_000168.1:p.(Glu329del)	NC_000009.11:g.124079444_124079446del	VUS	1 lab	eb313aeb1b
9:39085768 CNTNAP3 T>C	9	39085768	39085768	T	C	CNTNAP3	c.3407A>G	NM_033655.3	NP_387504.2:p.(Asn1136Ser)	NC_000009.11:g.39085768T>C	(Likely) benign	1 lab	382d346f67
X:153171149 AVPR2 T>C	X	153171149	153171149	T	C	AVPR2	c.189T>C	NM_000054.6	NP_000045.1:p.(Ala63=)	NC_000023.10:g.153171149T>C	(Likely) benign	1 lab	eb3203f422
22:24460589 CABIN1 G>A	22	24460589	24460589	G	A	CABIN1	c.1976G>A	NM_001199281.1	NP_001186210.1:p.(Arg659Gln)	NC_000022.10:g.24460589G>A	(Likely) benign	1 lab	382fef01b6
16:88500918 ZNF469 C>T	16	88500918	88500918	C	T	ZNF469				NC_000016.9:g.88500918C>T	VUS	1 lab	383031e5e1
1:204950943 NFASC G>A	1	204950943	204950943	G	A	NFASC	c.2265G>A	NM_001005388.2	NP_001005388.2:p.(Ser755=)	NC_000001.10:g.204950943G>A	(Likely) benign	1 lab	3831176247
1:65730605 DNAJC6 T>C	1	65730605	65730605	T	C	DNAJC6	c.12T>C	NM_014787.3	NP_055602.1:p.(Ser4=)	NC_000001.10:g.65730605T>C	(Likely) benign	1 lab	3831420aea
7:100279705 GIGYF1 T>C	7	100279705	100279705	T	C	GIGYF1	c.2915A>G	NM_022574.5	NP_072096.2:p.(Gln972Arg)	NC_000007.13:g.100279705T>C	VUS	1 lab	383162fd70
11:18327901 HPS5 T>A	11	18327901	18327901	T	A	HPS5	c.612-7A>T	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18327901T>A	(Likely) benign	1 lab	34868f9ce1
17:79479037 ACTG1 G>A	17	79479037	79479037	G	A	ACTG1	c.255C>T	NM_001199954.2	NP_001186883.1:p.(Ile85=)	NC_000017.10:g.79479037G>A	(Likely) benign	1 lab	38319eb3c5
X:153171300 AVPR2 G>A	X	153171300	153171300	G	A	AVPR2	c.340G>A	NM_001146151.2	NP_001139623.1:p.(Ala114Thr)	NC_000023.10:g.153171300G>A	(Likely) benign	1 lab	3832ba1fee
X:69354501 IGBP1 G>A	X	69354501	69354501	G	A	IGBP1	c.317G>A	NM_001551.2	NP_001542.1:p.(Arg106Gln)	NC_000023.10:g.69354501G>A	(Likely) benign	1 lab	38352e8aa8
X:100356235 CENPI A>G	X	100356235	100356235	A	G	CENPI	c.176A>G	NM_006733.3	NP_006724.2:p.(Asp59Gly)	NC_000023.10:g.100356235A>G	(Likely) benign	1 lab	3835599421
19:22156868 ZNF208 C>A	19	22156868	22156868	C	A	ZNF208	c.968G>T	NM_007153.3	NP_009084.2:p.(Ser323Ile)	NC_000019.9:g.22156868C>A	(Likely) benign	1 lab	3836450502
12:48398011 COL2A1 A>G	12	48398011	48398011	A	G	COL2A1	c.85+9T>C	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48398011A>G	(Likely) benign	1 lab	38377c9147
5:102483677 PPIP5K2 C>T	5	102483677	102483677	C	T	PPIP5K2	c.685C>T	NM_001281471.2	NP_001268400.1:p.(Arg229Ter)	NC_000005.9:g.102483677C>T	(Likely) pathogenic	1 lab	383c46c054
12:5021213 KCNA1 C>G	12	5021213	5021213	C	G	KCNA1	c.669C>G	NM_000217.3	NP_000208.2:p.(Ile223Met)	NC_000012.11:g.5021213C>G	VUS	1 lab	383dba3897
17:32963143 TMEM132E C>T	17	32963143	32963143	C	T	TMEM132E	c.2095C>T	NM_001304438.1	NP_001291367.1:p.(Arg699Trp)	NC_000017.10:g.32963143C>T	VUS	1 lab	383f7f1c65
1:247588650 NLRP3 C>T	1	247588650	247588650	C	T	NLRP3	c.1899C>T	NM_001243133.1	NP_001230062.1:p.(Tyr633=)	NC_000001.10:g.247588650C>T	(Likely) benign	1 lab	384087d9fa
18:47566640 MYO5B G>C	18	47566640	47566640	G	C	MYO5B	c.183C>G	NM_001080467.2	NP_001073936.1:p.(Phe61Leu)	NC_000018.9:g.47566640G>C	VUS	1 lab	384118a094
19:36577670 WDR62 C>T	19	36577670	36577670	C	T	WDR62	c.1724C>T	NM_001083961.1	NP_001077430.1:p.(Thr575Met)	NC_000019.9:g.36577670C>T	VUS	1 lab	38423cbcf7
6:152658141 SYNE1 CT>AC	6	152658141	152658142	CT	AC	SYNE1	c.12362_12363delinsGT	NM_182961.3	NP_892006.3:p.(Lys4121Ser)	NC_000006.11:g.152658141_152658142delinsAC	(Likely) benign	1 lab	3842bb509a
10:135236917 SPRN C>T	10	135236917	135236917	C	T	SPRN	c.269G>A	NM_001012508.3	NP_001012526.2:p.(Arg90Lys)	NC_000010.10:g.135236917C>T	VUS	1 lab	38442bf4ed
17:18061196 MYO15A G>A	17	18061196	18061196	G	A	MYO15A	c.8949G>A	NM_016239.3	NP_057323.3:p.(Glu2983=)	NC_000017.10:g.18061196G>A	(Likely) benign	1 lab	38446764ae
9:37442181 ZBTB5 G>A	9	37442181	37442181	G	A	ZBTB5	c.368C>T	NM_014872.3	NP_055687.1:p.(Thr123Met)	NC_000009.11:g.37442181G>A	VUS	1 lab	38472274cc
4:57796884 REST G>T	4	57796884	57796884	G	T	REST	c.1860G>T	NM_001363453.1	NP_001350382.1:p.(Ala620=)	NC_000004.11:g.57796884G>T	(Likely) benign	1 lab	384935bde3
12:58120847 AGAP2 G>C	12	58120847	58120847	G	C	AGAP2	c.3246C>G	NM_001122772.2	NP_001116244.1:p.(Leu1082=)	NC_000012.11:g.58120847G>C	(Likely) benign	1 lab	38493b34ee
9:71714842 TJP2 C>T	9	71714842	71714842	C	T	TJP2				NC_000009.11:g.71714842C>T	(Likely) benign	1 lab	38495156b0
18:31325858 ASXL3 C>T	18	31325858	31325858	C	T	ASXL3	c.6046C>T	NM_030632.2	NP_085135.1:p.(His2016Tyr)	NC_000018.9:g.31325858C>T	VUS	1 lab	3849741d85
13:48937042 RB1 T>TA	13	48937042	48937043	T	TA	RB1	c.811dup	NM_000321.3	NP_000312.2:p.(Thr271AsnfsTer5)	NC_000013.10:g.48937043dup	(Likely) pathogenic	1 lab	eb3323fafe
1:45808673 TOE1 CGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTA>C	1	45808673	45808754	CGGTGAGAGCACCCACCTGTTTCTTGGGAGGGAAGGTTCTGATGCCTGGAGCCTCTTTCTAAGCCTCTTTCCCACCCCTA	C	TOE1	c.912+2_913del	NM_025077.4	NP_079353.3:p.?	NC_000001.10:g.45808676_45808754del	(Likely) pathogenic	1 lab	eb39673d72
15:40913695 KNL1 G>C	15	40913695	40913695	G	C	KNL1	c.1311G>C	NM_170589.4	NP_733468.3:p.(Met437Ile)	NC_000015.9:g.40913695G>C	(Likely) benign	1 lab	384aceda19
16:3021942 PAQR4 G>A	16	3021942	3021942	G	A	PAQR4	c.815G>A	NM_152341.4	NP_689554.2:p.(Arg272Gln)	NC_000016.9:g.3021942G>A	(Likely) benign	1 lab	384ccbb8c3
11:118185190 CD3E T>C	11	118185190	118185190	T	C	CD3E	c.548T>C	NM_000733.3	NP_000724.1:p.(Val183Ala)	NC_000011.9:g.118185190T>C	VUS	1 lab	384d1cffcf
X:153220990 HCFC1 C>T	X	153220990	153220990	C	T	HCFC1	c.2860G>A	NM_005334.2	NP_005325.2:p.(Val954Met)	NC_000023.10:g.153220990C>T	VUS	1 lab	384e2baa94
15:73029929 BBS4 G>C	15	73029929	73029929	G	C	BBS4	c.*1G>C	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.73029929G>C	(Likely) benign	1 lab	384fb6a6bd
1:12371605 VPS13D G>A	1	12371605	12371605	G	A	VPS13D	c.6745G>A	NM_015378.4	NP_056193.2:p.(Gly2249Ser)	NC_000001.10:g.12371605G>A	VUS	1 lab	3850cfc571
16:88494259 ZNF469 G>A	16	88494259	88494259	G	A	ZNF469				NC_000016.9:g.88494259G>A	(Likely) benign	1 lab	38547a1325
9:420966 DOCK8 C>A	9	420966	420966	C	A	DOCK8	c.4041C>A	NM_203447.3	NP_982272.2:p.(Asp1347Glu)	NC_000009.11:g.420966C>A	VUS	1 lab	385574efe9
7:42007228 GLI3 A>AGG	7	42007228	42007233	A	AGG	GLI3	c.2395_2396dup	NM_000168.5	NP_000159.3:p.(Lys800LeufsTer10)	NC_000007.13:g.42007232_42007233dup	(Likely) pathogenic	1 lab	3858144349
7:130044395 CEP41 C>T	7	130044395	130044395	C	T	CEP41	c.422+10G>A	NM_018718.2	NP_061188.1:p.?	NC_000007.13:g.130044395C>T	(Likely) benign	1 lab	3858c167e0
9:135781156 TSC1 C>CG	9	135781156	135781161	C	CG	TSC1	c.1808dup	NM_000368.4	NP_000359.1:p.(Tyr604ValfsTer2)	NC_000009.11:g.135781161dup	(Likely) pathogenic	1 lab	385a0eea81
6:401571 IRF4 A>G	6	401571	401571	A	G	IRF4	c.893A>G	NM_002460.3	NP_002451.2:p.(Asn298Ser)	NC_000006.11:g.401571A>G	(Likely) benign	1 lab	385ac16ff0
15:65917868 SLC24A1 A>T	15	65917868	65917868	A	T	SLC24A1	c.1450A>T	NM_004727.2	NP_004718.1:p.(Ile484Phe)	NC_000015.9:g.65917868A>T	VUS	1 lab	385bed1144
X:152821896 ATP2B3 C>T	X	152821896	152821896	C	T	ATP2B3	c.2326+20C>T	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152821896C>T	(Likely) benign	1 lab	385ce7d0a0
14:91739013 CCDC88C C>T	14	91739013	91739013	C	T	CCDC88C	c.6043G>A	NM_001080414.3	NP_001073883.2:p.(Gly2015Ser)	NC_000014.8:g.91739013C>T	(Likely) benign	1 lab	385da3dc4f
Y:14945611 USP9Y T>TA	Y	14945611	14945612	T	TA	USP9Y	c.5022-2dup	NM_004654.3	NP_004645.2:p.?	NC_000024.9:g.14945612dup	(Likely) benign	1 lab	385e5a6e71
17:2577344 PAFAH1B1 A>C	17	2577344	2577344	A	C	PAFAH1B1	c.672-10A>C	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2577344A>C	(Likely) benign	1 lab	385e941bf8
11:6661744 DCHS1 G>A	11	6661744	6661744	G	A	DCHS1				NC_000011.9:g.6661744G>A	(Likely) benign	1 lab	38618bfd53
1:218578570 TGFB2 G>A	1	218578570	218578570	G	A	TGFB2	c.490G>A	NM_001135599.3	NP_001129071.1:p.(Ala164Thr)	NC_000001.10:g.218578570G>A	(Likely) benign	1 lab	3865b82626
10:121431863 BAG3 CCG>C	10	121431863	121431867	CCG	C	BAG3	c.607_608del	NM_004281.4	NP_004272.2:p.(Arg203GlyfsTer51)	NC_000010.10:g.121431866_121431867del	(Likely) pathogenic	1 lab	eb39ef8cd2
4:10089919 WDR1 C>A	4	10089919	10089919	C	A	WDR1	c.715G>T	NM_017491.4	NP_059830.1:p.(Ala239Ser)	NC_000004.11:g.10089919C>A	VUS	1 lab	3866fa59ef
21:27264096 APP C>T	21	27264096	27264096	C	T	APP	c.2149G>A	NM_000484.3	NP_000475.1:p.(Val717Ile)	NC_000021.8:g.27264096C>T	(Likely) pathogenic	1 lab	386713ff28
11:17581152 OTOG C>T	11	17581152	17581152	C	T	OTOG	c.1321C>T	NM_001277269.1	NP_001264198.1:p.(Arg441Trp)	NC_000011.9:g.17581152C>T	VUS	1 lab	38673e8459
1:20972169 PINK1 C>T	1	20972169	20972169	C	T	PINK1	c.1076C>T	NM_032409.2	NP_115785.1:p.(Ala359Val)	NC_000001.10:g.20972169C>T	VUS	1 lab	38676ad539
X:153670586 GDI1 G>C	X	153670586	153670586	G	C	GDI1	c.1120G>C	NM_001493.2	NP_001484.1:p.(Glu374Gln)	NC_000023.10:g.153670586G>C	(Likely) benign	1 lab	38688c9d44
9:71840972 TJP2 C>T	9	71840972	71840972	C	T	TJP2	c.1091C>T	NM_004817.4	NP_004808.2:p.(Thr364Met)	NC_000009.11:g.71840972C>T	(Likely) benign	1 lab	38698d3be8
X:41333160 NYX G>A	X	41333160	41333160	G	A	NYX	c.454G>A	NM_022567.2	NP_072089.1:p.(Glu152Lys)	NC_000023.10:g.41333160G>A	VUS	1 lab	3869e324ee
5:34954706 DNAJC21 A>C	5	34954706	34954706	A	C	DNAJC21	c.1483A>C	NM_001012339.3	NP_001012339.2:p.(Asn495His)	NC_000005.9:g.34954706A>C	VUS	1 lab	eb3a4bc629
2:179654209 TTN C>T	2	179654209	179654209	C	T	TTN	c.1954G>A	NM_001267550.1	NP_001254479.1:p.(Glu652Lys)	NC_000002.11:g.179654209C>T	VUS	1 lab	386aa1e7dd
2:234869510 TRPM8 C>T	2	234869510	234869510	C	T	TRPM8	c.1453C>T	NM_024080.5	NP_076985.4:p.(Arg485Trp)	NC_000002.11:g.234869510C>T	VUS	1 lab	386c4180a4
5:54527476 CCNO G>A	5	54527476	54527476	G	A	CCNO	c.780C>T	NM_021147.4	NP_066970.3:p.(Ala260=)	NC_000005.9:g.54527476G>A	(Likely) benign	1 lab	386cf4aef2
17:1636037 WDR81 C>T	17	1636037	1636037	C	T	WDR81	c.4401C>T	NM_001163809.1	NP_001157281.1:p.(Pro1467=)	NC_000017.10:g.1636037C>T	(Likely) benign	1 lab	386da75f7f
12:100478344 BLTP3B C>T	12	100478344	100478344	C	T	BLTP3B	c.1198G>A	NM_015054.2	NP_055869.1:p.(Val400Ile)	NC_000012.11:g.100478344C>T	(Likely) benign	1 lab	386e639e48
19:42753667 ERF C>T	19	42753667	42753667	C	T	ERF	c.597G>A	NM_006494.3	NP_006485.2:p.(Pro199=)	NC_000019.9:g.42753667C>T	(Likely) benign	1 lab	386ed3cdc8
11:124749151 ROBO3 C>T	11	124749151	124749151	C	T	ROBO3	c.3599C>T	NM_022370.3	NP_071765.2:p.(Ala1200Val)	NC_000011.9:g.124749151C>T	VUS	1 lab	386f80f51e
X:85236768 CHM T>C	X	85236768	85236768	T	C	CHM	c.162A>G	NM_000390.2	NP_000381.1:p.(Gly54=)	NC_000023.10:g.85236768T>C	(Likely) benign	1 lab	386ff841a4
8:54669154 ATP6V1H T>C	8	54669154	54669154	T	C	ATP6V1H	c.1238A>G	NM_015941.4	NP_057025.2:p.(Asp413Gly)	NC_000008.10:g.54669154T>C	VUS	1 lab	387078d114
19:4816829 TICAM1 C>T	19	4816829	4816829	C	T	TICAM1	c.1561G>A	NM_182919.3	NP_891549.1:p.(Ala521Thr)	NC_000019.9:g.4816829C>T	VUS	1 lab	3871ed2476
20:48807945 CEBPB C>T	20	48807945	48807945	C	T	CEBPB	c.306C>T	NM_001285878.1	NP_001272807.1:p.(Asp102=)	NC_000020.10:g.48807945C>T	(Likely) benign	1 lab	3872330d3f
4:153690901 TIGD4 T>A	4	153690901	153690901	T	A	TIGD4	c.1256A>T	NM_145720.3	NP_663772.1:p.(Glu419Val)	NC_000004.11:g.153690901T>A	VUS	1 lab	3873f13a70
15:34077939 RYR3 C>T	15	34077939	34077939	C	T	RYR3	c.9345C>T	NM_001036.4	NP_001027.3:p.(Asn3115=)	NC_000015.9:g.34077939C>T	(Likely) benign	1 lab	3876136295
X:133378922 CCDC160 C>G	X	133378922	133378922	C	G	CCDC160	c.92C>G	NM_001353453.1	NP_001340382.1:p.(Ser31Cys)	NC_000023.10:g.133378922C>G	VUS	1 lab	3876911124
1:235926145 LYST T>C	1	235926145	235926145	T	C	LYST	c.6128A>G	NM_001301365.1	NP_001288294.1:p.(Lys2043Arg)	NC_000001.10:g.235926145T>C	VUS	1 lab	eb3b433425
16:22134476 VWA3A A>G	16	22134476	22134476	A	G	VWA3A	c.1427A>G	NM_173615.4	NP_775886.3:p.(Tyr476Cys)	NC_000016.9:g.22134476A>G	VUS	1 lab	387a97cd84
16:88781504 CTU2 C>T	16	88781504	88781504	C	T	CTU2	c.1468C>T	NM_001012759.3	NP_001012777.1:p.(Arg490Cys)	NC_000016.9:g.88781504C>T	(Likely) benign	1 lab	387b5a6a09
17:10542725 MYH3 T>C	17	10542725	10542725	T	C	MYH3	c.2992A>G	NM_002470.3	NP_002461.2:p.(Lys998Glu)	NC_000017.10:g.10542725T>C	VUS	1 lab	387d9e4fda
2:179527270 TTN G>A	2	179527270	179527270	G	A	TTN	c.36948C>T	NM_001267550.1	NP_001254479.1:p.(Pro12316=)	NC_000002.11:g.179527270G>A	(Likely) benign	1 lab	387dcd9332
7:1484507 MICALL2 G>A	7	1484507	1484507	G	A	MICALL2	c.1199C>T	NM_182924.4	NP_891554.1:p.(Thr400Met)	NC_000007.13:g.1484507G>A	(Likely) benign	1 lab	387e6f8b94
X:149639573 MAMLD1 G>A	X	149639573	149639573	G	A	MAMLD1	c.1728G>A	NM_005491.4	NP_005482.2:p.(Pro576=)	NC_000023.10:g.149639573G>A	(Likely) benign	1 lab	3880864b2b
2:31570415 XDH G>A	2	31570415	31570415	G	A	XDH	c.3249C>T	NM_000379.3	NP_000370.2:p.(Ser1083=)	NC_000002.11:g.31570415G>A	(Likely) benign	1 lab	3880d4f651
13:46148999 ERICH6B T>C	13	46148999	46148999	T	C	ERICH6B	c.1028A>G	NM_182542.2	NP_872348.2:p.(Glu343Gly)	NC_000013.10:g.46148999T>C	VUS	1 lab	3881734055
2:179534402 TTN G>T	2	179534402	179534402	G	T	TTN	c.35387C>A	NM_001267550.2	NP_001254479.2:p.(Ala11796Glu)	NC_000002.11:g.179534402G>T	VUS	1 lab	eb4173a4be
X:24024510 KLHL15 C>T	X	24024510	24024510	C	T	KLHL15	c.301G>A	NM_030624.2	NP_085127.2:p.(Val101Ile)	NC_000023.10:g.24024510C>T	VUS	1 lab	3882b4b754
20:23731305 CST1 G>C	20	23731305	23731305	G	C	CST1	c.199C>G	NM_001898.2	NP_001889.2:p.(Pro67Ala)	NC_000020.10:g.23731305G>C	(Likely) benign	1 lab	388838fbda
17:79477737 ACTG1 G>A	17	79477737	79477737	G	A	ACTG1	c.1107C>T	NM_001199954.2	NP_001186883.1:p.(Ile369=)	NC_000017.10:g.79477737G>A	(Likely) benign	1 lab	3888acddfd
2:241657516 KIF1A T>C	2	241657516	241657516	T	C	KIF1A	c.5284A>G	NM_001244008.1	NP_001230937.1:p.(Met1762Val)	NC_000002.11:g.241657516T>C	(Likely) benign	1 lab	388b79309a
15:64039255 HERC1 G>A	15	64039255	64039255	G	A	HERC1	c.2382C>T	NM_003922.3	NP_003913.3:p.(Cys794=)	NC_000015.9:g.64039255G>A	(Likely) benign	1 lab	388c0de660
22:18936189 MISSING 21098033>DEL	22	18936189	21098033	21098033	DEL	MISSING				NC_000022.10:g.18936189_21098033del	(Likely) pathogenic	1 lab	eb443ddc48
9:90500509 SPATA31E1 C>T	9	90500509	90500509	C	T	SPATA31E1	c.1107C>T	NM_178828.4	NP_849150.3:p.(Ile369=)	NC_000009.11:g.90500509C>T	(Likely) benign	1 lab	388e2a01ee
4:119661914 SEC24D G>A	4	119661914	119661914	G	A	SEC24D	c.2145C>T	NM_001318066.1	NP_001304995.1:p.(Thr715=)	NC_000004.11:g.119661914G>A	(Likely) benign	1 lab	388f023ac2
7:4824534 AP5Z1 C>T	7	4824534	4824534	C	T	AP5Z1	c.791-5C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4824534C>T	(Likely) benign	1 lab	388fc672b0
1:116243928 CASQ2 A>T	1	116243928	116243928	A	T	CASQ2	c.1134T>A	NM_001232.3	NP_001223.2:p.(Asp378Glu)	NC_000001.10:g.116243928A>T	(Likely) benign	1 lab	389118d783
20:57415299 GNAS C>A	20	57415299	57415299	C	A	GNAS	c.138C>A	NM_016592.3	NP_057676.1:p.(Ala46=)	NC_000020.10:g.57415299C>A	(Likely) benign	1 lab	3891fd3b34
5:118788515 HSD17B4 A>G	5	118788515	118788515	A	G	HSD17B4	c.67A>G	NM_001199291.2	NP_001186220.1:p.(Arg23Gly)	NC_000005.9:g.118788515A>G	VUS	1 lab	38960f6eeb
11:6549817 DNHD1 G>A	11	6549817	6549817	G	A	DNHD1	c.1903G>A	NM_144666.2	NP_653267.2:p.(Asp635Asn)	NC_000011.9:g.6549817G>A	VUS	1 lab	389626b62c
4:183267808 TENM3 G>C	4	183267808	183267808	G	C	TENM3	c.237G>C	NM_001080477.4	NP_001073946.1:p.(Gln79His)	NC_000004.11:g.183267808G>C	VUS	1 lab	eb44d924b8
10:79777435 POLR3A C>G	10	79777435	79777435	C	G	POLR3A	c.1329G>C	NM_007055.3	NP_008986.2:p.(Glu443Asp)	NC_000010.10:g.79777435C>G	(Likely) benign	1 lab	3897725e02
2:62081001 FAM161A C>T	2	62081001	62081001	C	T	FAM161A	c.176G>A	NM_001201543.1	NP_001188472.1:p.(Gly59Glu)	NC_000002.11:g.62081001C>T	(Likely) benign	1 lab	38995d16fb
10:48414019 GDF2 C>T	10	48414019	48414019	C	T	GDF2	c.849G>A	NM_016204.3	NP_057288.1:p.(Val283=)	NC_000010.10:g.48414019C>T	(Likely) benign	1 lab	389bb7c1e7
10:85993904 LRIT1 G>T	10	85993904	85993904	G	T	LRIT1	c.820C>A	NM_015613.2	NP_056428.1:p.(Arg274Ser)	NC_000010.10:g.85993904G>T	(Likely) benign	1 lab	389d4ccdc7
6:144878377 UTRN A>G	6	144878377	144878377	A	G	UTRN	c.7219A>G	NM_007124.2	NP_009055.2:p.(Ser2407Gly)	NC_000006.11:g.144878377A>G	(Likely) benign	1 lab	389d833804
20:30671729 HCK C>T	20	30671729	30671729	C	T	HCK	c.505C>T	NM_001172132.1	NP_001165603.1:p.(Pro169Ser)	NC_000020.10:g.30671729C>T	(Likely) benign	1 lab	389d9ffcd7
8:61765798 CHD7 G>A	8	61765798	61765798	G	A	CHD7				NC_000008.10:g.61765798G>A	VUS	1 lab	389e553899
1:228505770 OBSCN G>A	1	228505770	228505770	G	A	OBSCN	c.16898G>A	NM_001271223.2	NP_001258152.2:p.(Arg5633Gln)	NC_000001.10:g.228505770G>A	VUS	1 lab	389e94e09e
11:47364222 MYBPC3 GGT>G	11	47364222	47364226	GGT	G	MYBPC3	c.1529_1530del	NM_000256.3	NP_000247.2:p.(His510ProfsTer20)	NC_000011.9:g.47364225_47364226del	(Likely) pathogenic	1 lab	389eb639ba
8:6266866 MCPH1 C>T	8	6266866	6266866	C	T	MCPH1	c.89C>T	NM_024596.4	NP_078872.2:p.(Thr30Ile)	NC_000008.10:g.6266866C>T	VUS	1 lab	389f8e3e64
20:33328275 NCOA6 C>T	20	33328275	33328275	C	T	NCOA6	c.5785G>A	NM_001318240.1	NP_001305169.1:p.(Ala1929Thr)	NC_000020.10:g.33328275C>T	(Likely) benign	1 lab	389fadd2e6
11:66444220 RBM4B T>C	11	66444220	66444220	T	C	RBM4B	c.331A>G	NM_031492.4	NP_113680.1:p.(Lys111Glu)	NC_000011.9:g.66444220T>C	VUS	1 lab	389fb2e63b
10:101950680 CHUK G>A	10	101950680	101950680	G	A	CHUK	c.2137C>T	NM_001320928.1	NP_001307857.1:p.(Pro713Ser)	NC_000010.10:g.101950680G>A	VUS	1 lab	38a099767a
17:29483087 NF1 C>A	17	29483087	29483087	C	A	NF1	c.147C>A	NM_000267.3	NP_000258.1:p.(Tyr49Ter)	NC_000017.10:g.29483087C>A	(Likely) pathogenic	1 lab	38a25349d4
1:209790792 LAMB3 G>A	1	209790792	209790792	G	A	LAMB3	c.3191C>T	NM_001017402.1	NP_001017402.1:p.(Ala1064Val)	NC_000001.10:g.209790792G>A	VUS	1 lab	38a3764777
19:42799295 CIC G>GGGC	19	42799295	42799296	G	GGGC	CIC	c.7506_7507insGGC	NM_001304815.1	NP_001291744.1:p.(Gln2502_Pro2503insGly)	NC_000019.9:g.42799295_42799296insGGC	VUS	1 lab	38a4607ef7
1:103540328 COL11A1 C>A	1	103540328	103540328	C	A	COL11A1	c.497G>T	NM_080629.2	NP_542196.2:p.(Arg166Leu)	NC_000001.10:g.103540328C>A	VUS	1 lab	38a5bf0811
5:79933750 DHFR T>G	5	79933750	79933750	T	G	DHFR	c.321A>C	NM_000791.3	NP_000782.1:p.(Ala107=)	NC_000005.9:g.79933750T>G	(Likely) benign	1 lab	38a6737a64
11:94250855 C11orf97 T>G	11	94250855	94250855	T	G	C11orf97	c.250+2T>G	NM_001190462.1	NP_001177391.1:p.?	NC_000011.9:g.94250855T>G	VUS	1 lab	38a7f10f2b
21:47855983 PCNT G>A	21	47855983	47855983	G	A	PCNT	c.8918G>A	NM_006031.5	NP_006022.3:p.(Arg2973Gln)	NC_000021.8:g.47855983G>A	(Likely) benign	1 lab	38a9368f91
20:44526640 CTSA G>C	20	44526640	44526640	G	C	CTSA	c.1255-4G>C	NM_001127695.2	NP_001121167.1:p.?	NC_000020.10:g.44526640G>C	(Likely) benign	1 lab	38a99b0787
X:152612986 ZNF275 C>T	X	152612986	152612986	C	T	ZNF275	c.843C>T	NM_001080485.3	NP_001073954.3:p.(Ala281=)	NC_000023.10:g.152612986C>T	(Likely) benign	1 lab	38ab93f91f
5:70806543 BDP1 G>A	5	70806543	70806543	G	A	BDP1	c.3624G>A	NM_018429.2	NP_060899.2:p.(Ser1208=)	NC_000005.9:g.70806543G>A	(Likely) benign	1 lab	38ae273507
19:36221015 KMT2B C>G	19	36221015	36221015	C	G	KMT2B	c.5065C>G	NM_014727.2	NP_055542.1:p.(Leu1689Val)	NC_000019.9:g.36221015C>G	(Likely) benign	1 lab	38b0b316ea
1:9780913 PIK3CD G>A	1	9780913	9780913	G	A	PIK3CD	c.1635G>A	NM_005026.3	NP_005017.3:p.(Ala545=)	NC_000001.10:g.9780913G>A	(Likely) benign	1 lab	38b1fa74ff
17:39620632 KRT32 G>A	17	39620632	39620632	G	A	KRT32	c.772C>T	NM_002278.3	NP_002269.3:p.(Pro258Ser)	NC_000017.10:g.39620632G>A	VUS	1 lab	38b2fb1504
18:43450542 EPG5 G>C	18	43450542	43450542	G	C	EPG5	c.6215C>G	NM_020964.3	NP_066015.2:p.(Ala2072Gly)	NC_000018.9:g.43450542G>C	VUS	1 lab	38b3dda9eb
19:45923653 ERCC1 A>G	19	45923653	45923653	A	G	ERCC1	c.354T>C	NM_001983.3	NP_001974.1:p.(Asn118=)	NC_000019.9:g.45923653A>G	(Likely) benign	1 lab	38b4e61303
17:29585519 NF1 A>AG	17	29585519	29585521	A	AG	NF1	c.4269_4269+1insG	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29585521dup	(Likely) pathogenic	1 lab	38b9cbfb35
1:19496017 UBR4 A>T	1	19496017	19496017	A	T	UBR4	c.3653T>A	NM_020765.2	NP_065816.2:p.(Leu1218Gln)	NC_000001.10:g.19496017A>T	VUS	1 lab	38b9d3a29f
11:108198419 ATM T>C	11	108198419	108198419	T	C	ATM	c.7023T>C	NM_000051.3	NP_000042.3:p.(Cys2341=)	NC_000011.9:g.108198419T>C	(Likely) benign	1 lab	38b9f56d1a
3:183535873 MAP6D1 A>C	3	183535873	183535873	A	C	MAP6D1	c.428T>G	NM_024871.2	NP_079147.1:p.(Val143Gly)	NC_000003.11:g.183535873A>C	VUS	1 lab	38bbcff7f0
12:40715013 LRRK2 T>A	12	40715013	40715013	T	A	LRRK2	c.5170+23T>A	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40715013T>A	(Likely) benign	1 lab	38bbead748
17:1619920 WDR81 C>T	17	1619920	1619920	C	T	WDR81	c.51C>T	NM_001163673.1	NP_001157145.1:p.(Ser17=)	NC_000017.10:g.1619920C>T	(Likely) benign	1 lab	38bc502971
X:153596445 FLNA G>A	X	153596445	153596445	G	A	FLNA	c.387C>T	NM_001110556.2	NP_001104026.1:p.(Ile129=)	NC_000023.10:g.153596445G>A	(Likely) benign	1 lab	38bca8b904
3:42727348 KLHL40 G>C	3	42727348	42727348	G	C	KLHL40	c.238G>C	NM_152393.3	NP_689606.2:p.(Asp80His)	NC_000003.11:g.42727348G>C	VUS	1 lab	38bce8ddba
17:29665824 NF1 G>T	17	29665824	29665824	G	T	NF1	c.6858+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665824G>T	(Likely) pathogenic	1 lab	38bd0f106a
9:130493404 TTC16 G>A	9	130493404	130493404	G	A	TTC16	c.2342G>A	NM_144965.3	NP_659402.1:p.(Arg781Gln)	NC_000009.11:g.130493404G>A	(Likely) benign	1 lab	38bd70a437
1:110612970 ALX3 C>T	1	110612970	110612970	C	T	ALX3	c.265G>A	NM_006492.3	NP_006483.2:p.(Gly89Ser)	NC_000001.10:g.110612970C>T	VUS	1 lab	38bf188fd0
9:123715037 C5 T>C	9	123715037	123715037	T	C	C5	c.5029A>G	NM_001317163.1	NP_001304092.1:p.(Ile1677Val)	NC_000009.11:g.123715037T>C	(Likely) benign	1 lab	38c2706ed3
X:69774597 TEX11 C>T	X	69774597	69774597	C	T	TEX11	c.2239G>A	NM_001003811.1	NP_001003811.1:p.(Val747Ile)	NC_000023.10:g.69774597C>T	(Likely) benign	1 lab	38c392b98b
7:92123696 PEX1 C>T	7	92123696	92123696	C	T	PEX1	c.2317G>A	NM_001282678.1	NP_001269607.1:p.(Ala773Thr)	NC_000007.13:g.92123696C>T	VUS	1 lab	38c4580839
20:25300837 ABHD12 G>A	20	25300837	25300837	G	A	ABHD12	c.540C>T	NM_001042472.3	NP_001035937.1:p.(Thr180=)	NC_000020.10:g.25300837G>A	(Likely) benign	1 lab	38c458cc3c
X:77294411 ATP7A A>G	X	77294411	77294411	A	G	ATP7A	c.3589A>G	NM_000052.6	NP_000043.4:p.(Asn1197Asp)	NC_000023.10:g.77294411A>G	(Likely) benign	1 lab	38c506d950
X:70609445 TAF1 A>G	X	70609445	70609445	A	G	TAF1	c.2711A>G	NM_004606.5	NP_004597.3:p.(Tyr904Cys)	NC_000023.10:g.70609445A>G	(Likely) pathogenic	1 lab	eb45f30ba2
6:37615017 MDGA1 G>A	6	37615017	37615017	G	A	MDGA1	c.1978C>T	NM_153487.3	NP_705691.1:p.(Leu660=)	NC_000006.11:g.37615017G>A	(Likely) benign	1 lab	38c5dc6200
6:170176146 ERMARD G>A	6	170176146	170176146	G	A	ERMARD	c.1505G>A	NM_018341.2	NP_060811.1:p.(Arg502His)	NC_000006.11:g.170176146G>A	(Likely) benign	1 lab	38c6b37111
X:152027341 NSDHL A>G	X	152027341	152027341	A	G	NSDHL	c.295A>G	NM_015922.3	NP_057006.1:p.(Asn99Asp)	NC_000023.10:g.152027341A>G	(Likely) benign	1 lab	38c6db7f94
12:40844076 MUC19 T>A	12	40844076	40844076	T	A	MUC19	c.4995T>A	NM_173600.2	NP_775871.2:p.(Val1665=)	NC_000012.11:g.40844076T>A	VUS	1 lab	38c7fd40a5
18:77156326 NFATC1 C>T	18	77156326	77156326	C	T	NFATC1	c.102C>T	NM_001278669.1	NP_001265598.1:p.(Gly34=)	NC_000018.9:g.77156326C>T	(Likely) benign	1 lab	38ca3dcd48
11:103027150 DYNC2H1 A>G	11	103027150	103027150	A	G	DYNC2H1	c.3778A>G	NM_001080463.1	NP_001073932.1:p.(Ile1260Val)	NC_000011.9:g.103027150A>G	VUS	1 lab	38cb12a717
8:100479644 VPS13B G>A	8	100479644	100479644	G	A	VPS13B	c.3448G>A	NM_017890.4	NP_060360.3:p.(Asp1150Asn)	NC_000008.10:g.100479644G>A	(Likely) benign	1 lab	38cb8e5bad
6:31842796 SLC44A4 C>T	6	31842796	31842796	C	T	SLC44A4	c.24G>A	NM_001178045.1	NP_001171516.1:p.(Pro8=)	NC_000006.11:g.31842796C>T	(Likely) benign	1 lab	38cd18362b
8:145741612 RECQL4 G>A	8	145741612	145741612	G	A	RECQL4	c.891C>T	NM_004260.3	NP_004251.3:p.(Asp297=)	NC_000008.10:g.145741612G>A	(Likely) benign	1 lab	38ce71b94e
3:20216365 SGO1 A>G	3	20216365	20216365	A	G	SGO1	c.658T>C	NM_001199251.3	NP_001186180.1:p.(Ser220Pro)	NC_000003.11:g.20216365A>G	VUS	1 lab	38ce7fe685
12:39716649 KIF21A C>T	12	39716649	39716649	C	T	KIF21A	c.3492G>A	NM_001173464.1	NP_001166935.1:p.(Leu1164=)	NC_000012.11:g.39716649C>T	(Likely) benign	1 lab	38cf65a290
10:112581114 RBM20 G>A	10	112581114	112581114	G	A	RBM20	c.2737G>A	NM_001134363.1	NP_001127835.1:p.(Glu913Lys)	NC_000010.10:g.112581114G>A	VUS	1 lab	38d0d54f3f
1:109823813 PSRC1 G>A	1	109823813	109823813	G	A	PSRC1	c.580C>T	NM_001032291.2	NP_001027462.1:p.(Arg194Ter)	NC_000001.10:g.109823813G>A	VUS	1 lab	38d18025ba
15:40915063 KNL1 C>T	15	40915063	40915063	C	T	KNL1	c.2679C>T	NM_170589.4	NP_733468.3:p.(Asp893=)	NC_000015.9:g.40915063C>T	(Likely) benign	1 lab	38d1b25b1a
2:179526578 TTN A>G	2	179526578	179526578	A	G	TTN	c.37202-9T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179526578A>G	(Likely) benign	1 lab	38d240bdf6
19:45515372 RELB A>G	19	45515372	45515372	A	G	RELB	c.342A>G	NM_006509.4	NP_006500.2:p.(Leu114=)	NC_000019.9:g.45515372A>G	(Likely) benign	1 lab	38d2b8bfd2
17:4646695 ZMYND15 G>C	17	4646695	4646695	G	C	ZMYND15	c.1242G>C	NM_001267822.1	NP_001254751.1:p.(Pro414=)	NC_000017.10:g.4646695G>C	(Likely) benign	1 lab	38d3cf9300
3:66434488 LRIG1 G>A	3	66434488	66434488	G	A	LRIG1	c.1998C>T	NM_015541.2	NP_056356.2:p.(Asp666=)	NC_000003.11:g.66434488G>A	(Likely) benign	1 lab	38d5e9f545
11:4103457 STIM1 A>C	11	4103457	4103457	A	C	STIM1	c.1013A>C	NM_001277961.1	NP_001264890.1:p.(His338Pro)	NC_000011.9:g.4103457A>C	VUS	1 lab	38d666cb9d
7:92122404 PEX1 G>C	7	92122404	92122404	G	C	PEX1	c.2446C>G	NM_001282678.1	NP_001269607.1:p.(Leu816Val)	NC_000007.13:g.92122404G>C	VUS	1 lab	38d8f64e2f
3:126219627 UROC1 G>A	3	126219627	126219627	G	A	UROC1	c.1236C>T	NM_001165974.2	NP_001159446.1:p.(Gly412=)	NC_000003.11:g.126219627G>A	(Likely) benign	1 lab	eb4d6735c5
2:172314567 DCAF17 C>G	2	172314567	172314567	C	G	DCAF17	c.714C>G	NM_025000.3	NP_079276.2:p.(Phe238Leu)	NC_000002.11:g.172314567C>G	VUS	1 lab	38d9523a48
X:152960539 SLC6A8 A>G	X	152960539	152960539	A	G	SLC6A8	c.1778A>G	NM_005629.3	NP_005620.1:p.(His593Arg)	NC_000023.10:g.152960539A>G	(Likely) benign	1 lab	38d9be8d6e
1:227171308 COQ8A T>A	1	227171308	227171308	T	A	COQ8A	c.1136T>A	NM_020247.4	NP_064632.2:p.(Leu379Ter)	NC_000001.10:g.227171308T>A	(Likely) pathogenic	1 lab	38db91ec61
X:154004555 DKC1 A>C	X	154004555	154004555	A	C	DKC1	c.1432A>C	NM_001363.3	NP_001354.1:p.(Lys478Gln)	NC_000023.10:g.154004555A>C	VUS	1 lab	38dba2e08e
17:29553452 NF1 G>A	17	29553452	29553452	G	A	NF1	c.2002-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553452G>A	(Likely) pathogenic	1 lab	38dc6dbede
3:52441474 BAP1 GCT>G	3	52441474	52441478	GCT	G	BAP1	c.376_377del	NM_004656.4	NP_004647.1:p.(Ser126GlnfsTer16)	NC_000003.11:g.52441477_52441478del	(Likely) pathogenic	1 lab	eb4d8184f9
16:89167513 ACSF3 C>T	16	89167513	89167513	C	T	ACSF3	c.424C>T	NM_001243279.2	NP_001230208.1:p.(Gln142Ter)	NC_000016.9:g.89167513C>T	(Likely) pathogenic	1 lab	38ddc51254
8:145583813 SLC52A2 C>T	8	145583813	145583813	C	T	SLC52A2	c.661C>T	NM_001363118.1	NP_001350047.1:p.(Pro221Ser)	NC_000008.10:g.145583813C>T	(Likely) benign	1 lab	38debbf6fa
17:29652890 NF1 A>C	17	29652890	29652890	A	C	NF1	c.4825A>C	NM_000267.3	NP_000258.1:p.(Thr1609Pro)	NC_000017.10:g.29652890A>C	(Likely) pathogenic	1 lab	38deed2367
2:111417607 BUB1 C>T	2	111417607	111417607	C	T	BUB1	c.1224G>A	NM_004336.4	NP_004327.1:p.(Val408=)	NC_000002.11:g.111417607C>T	(Likely) benign	1 lab	38df18b9e9
X:20185822 RPS6KA3 A>C	X	20185822	20185822	A	C	RPS6KA3	c.1487T>G	NM_004586.2	NP_004577.1:p.(Met496Arg)	NC_000023.10:g.20185822A>C	(Likely) pathogenic	1 lab	38e0bcb338
6:33272862 TAPBP G>A	6	33272862	33272862	G	A	TAPBP	c.772C>T	NM_003190.4	NP_003181.3:p.(Leu258=)	NC_000006.11:g.33272862G>A	(Likely) benign	1 lab	38e1ee75e1
X:77372886 PGK1 T>A	X	77372886	77372886	T	A	PGK1	c.495T>A	NM_000291.3	NP_000282.1:p.(Ala165=)	NC_000023.10:g.77372886T>A	(Likely) benign	1 lab	38e21df9b4
16:2120493 TSC2 C>CGT	16	2120493	2120499	C	CGT	TSC2	c.1758_1759dup	NM_000548.3	NP_000539.2:p.(Tyr587CysfsTer112)	NC_000016.9:g.2120498_2120499dup	(Likely) pathogenic	1 lab	38e55b434c
15:67008822 SMAD6 C>T	15	67008822	67008822	C	T	SMAD6	c.938C>T	NM_005585.4	NP_005576.3:p.(Pro313Leu)	NC_000015.9:g.67008822C>T	VUS	1 lab	38e7738fd1
2:50850725 NRXN1 T>C	2	50850725	50850725	T	C	NRXN1	c.960A>G	NM_001135659.3	NP_001129131.1:p.(Lys320=)	NC_000002.11:g.50850725T>C	(Likely) benign	1 lab	eb4db9fd6f
2:228882752 SPHKAP T>C	2	228882752	228882752	T	C	SPHKAP	c.2818A>G	NM_001142644.2	NP_001136116.1:p.(Met940Val)	NC_000002.11:g.228882752T>C	VUS	1 lab	38eb6f0080
19:42795825 CIC C>T	19	42795825	42795825	C	T	CIC	c.5541C>T	NM_001304815.1	NP_001291744.1:p.(Ala1847=)	NC_000019.9:g.42795825C>T	(Likely) benign	1 lab	38eba90286
1:231830364 DISC1 C>T	1	231830364	231830364	C	T	DISC1	c.860C>T	NM_001164537.1	NP_001158009.1:p.(Pro287Leu)	NC_000001.10:g.231830364C>T	(Likely) benign	1 lab	38ebfcc3b0
8:145642164 SLC39A4 G>A	8	145642164	145642164	G	A	SLC39A4	c.10C>T	NM_130849.3	NP_570901.2:p.(Leu4=)	NC_000008.10:g.145642164G>A	(Likely) benign	1 lab	38ec99bede
13:48878067 RB1 C>A	13	48878067	48878067	C	A	RB1	c.19C>A	NM_000321.2	NP_000312.2:p.(Arg7=)	NC_000013.10:g.48878067C>A	(Likely) benign	1 lab	38ed54c1fe
19:10267095 DNMT1 T>C	19	10267095	10267095	T	C	DNMT1	c.1323A>G	NM_001379.3	NP_001370.1:p.(Pro441=)	NC_000019.9:g.10267095T>C	(Likely) benign	1 lab	38edba1b8b
2:74589831 DCTN1 A>T	2	74589831	74589831	A	T	DCTN1	c.3555T>A	NM_004082.4	NP_004073.2:p.(Leu1185=)	NC_000002.11:g.74589831A>T	(Likely) benign	1 lab	38f0313174
8:38874910 ADAM9 C>G	8	38874910	38874910	C	G	ADAM9	c.583C>G	NM_003816.2	NP_003807.1:p.(Pro195Ala)	NC_000008.10:g.38874910C>G	VUS	1 lab	38f0dd860d
19:7618885 PNPLA6 C>T	19	7618885	7618885	C	T	PNPLA6	c.2415C>T	NM_001166111.1	NP_001159583.1:p.(His805=)	NC_000019.9:g.7618885C>T	(Likely) benign	1 lab	38f2241101
16:24918000 SLC5A11 A>G	16	24918000	24918000	A	G	SLC5A11	c.631A>G	NM_001258414.1	NP_001245343.1:p.(Arg211Gly)	NC_000016.9:g.24918000A>G	(Likely) benign	1 lab	38f23c678f
X:153692663 PLXNA3 G>A	X	153692663	153692663	G	A	PLXNA3	c.1828+7G>A	NM_017514.4	NP_059984.3:p.?	NC_000023.10:g.153692663G>A	VUS	1 lab	38f25333a6
8:144942654 EPPK1 C>T	8	144942654	144942654	C	T	EPPK1				NC_000008.10:g.144942654C>T	VUS	1 lab	38f26aa34d
2:179543178 TTN A>AT	2	179543178	179543179	A	AT	TTN	c.33872_33873insA	NM_001267550.2	NP_001254479.2:p.(Pro11292SerfsTer4)	NC_000002.11:g.179543178_179543179insT	(Likely) pathogenic	1 lab	eb4fb6340f
10:90695127 ACTA2 T>G	10	90695127	90695127	T	G	ACTA2	c.991-4A>C	NM_001141945.1	NP_001135417.1:p.?	NC_000010.10:g.90695127T>G	(Likely) benign	1 lab	38f412c2ac
7:103137080 RELN T>C	7	103137080	103137080	T	C	RELN	c.9086A>G	NM_005045.3	NP_005036.2:p.(Asn3029Ser)	NC_000007.13:g.103137080T>C	(Likely) benign	1 lab	38f635565a
20:34817250 EPB41L1 C>T	20	34817250	34817250	C	T	EPB41L1	c.2635-4C>T	NM_001258329.1	NP_001245258.1:p.?	NC_000020.10:g.34817250C>T	(Likely) benign	1 lab	eb511e034e
3:30648400 TGFBR2 C>T	3	30648400	30648400	C	T	TGFBR2	c.25C>T	NM_001024847.2	NP_001020018.1:p.(Leu9=)	NC_000003.11:g.30648400C>T	(Likely) benign	1 lab	38fa86b35f
1:22202759 HSPG2 T>C	1	22202759	22202759	T	C	HSPG2	c.2969A>G	NM_001291860.1	NP_001278789.1:p.(Tyr990Cys)	NC_000001.10:g.22202759T>C	VUS	1 lab	38ff0107c0
11:45832539 SLC35C1 G>A	11	45832539	45832539	G	A	SLC35C1	c.748G>A	NM_018389.4	NP_060859.4:p.(Gly250Arg)	NC_000011.9:g.45832539G>A	VUS	1 lab	38ff61ebfb
18:72226686 CNDP1 G>A	18	72226686	72226686	G	A	CNDP1	c.282G>A	NM_032649.5	NP_116038.4:p.(Ser94=)	NC_000018.9:g.72226686G>A	(Likely) benign	1 lab	3901d09c69
X:11132988 HCCS C>T	X	11132988	11132988	C	T	HCCS	c.134C>T	NM_005333.5	NP_005324.3:p.(Thr45Ile)	NC_000023.10:g.11132988C>T	(Likely) benign	1 lab	39029157c7
5:37318134 NUP155 C>T	5	37318134	37318134	C	T	NUP155	c.2084G>A	NM_004298.3	NP_004289.1:p.(Gly695Glu)	NC_000005.9:g.37318134C>T	VUS	1 lab	390332597a
6:65300769 EYS G>T	6	65300769	65300769	G	T	EYS	c.4991C>A	NM_001142800.1	NP_001136272.1:p.(Thr1664Asn)	NC_000006.11:g.65300769G>T	(Likely) benign	1 lab	3903370a87
X:107431107 COL4A6 G>A	X	107431107	107431107	G	A	COL4A6	c.1738C>T	NM_001287758.1	NP_001274687.1:p.(Pro580Ser)	NC_000023.10:g.107431107G>A	VUS	1 lab	3905caad9f
5:110456752 WDR36 G>A	5	110456752	110456752	G	A	WDR36	c.2229G>A	NM_139281.2	NP_644810.1:p.(Ser743=)	NC_000005.9:g.110456752G>A	(Likely) benign	1 lab	39064a329b
9:97887391 FANCC C>T	9	97887391	97887391	C	T	FANCC	c.973G>A	NM_000136.2	NP_000127.2:p.(Ala325Thr)	NC_000009.11:g.97887391C>T	(Likely) benign	1 lab	3907a5ff11
14:21793466 RPGRIP1 C>T	14	21793466	21793466	C	T	RPGRIP1	c.2291C>T	NM_020366.3	NP_065099.3:p.(Ala764Val)	NC_000014.8:g.21793466C>T	VUS	1 lab	3908f110b8
12:2789664 CACNA1C T>G	12	2789664	2789664	T	G	CACNA1C	c.5547T>G	NM_001167625.1	NP_001161097.1:p.(Pro1849=)	NC_000012.11:g.2789664T>G	(Likely) benign	1 lab	3909890186
14:64473935 SYNE2 C>T	14	64473935	64473935	C	T	SYNE2	c.4572C>T	NM_182914.2	NP_878918.2:p.(Thr1524=)	NC_000014.8:g.64473935C>T	(Likely) benign	1 lab	390b06024d
5:13920660 DNAH5 G>C	5	13920660	13920660	G	C	DNAH5	c.727C>G	NM_001369.2	NP_001360.1:p.(Leu243Val)	NC_000005.9:g.13920660G>C	(Likely) benign	1 lab	390c55cc98
X:107431169 COL4A6 C>T	X	107431169	107431169	C	T	COL4A6	c.1676G>A	NM_001287758.1	NP_001274687.1:p.(Arg559Gln)	NC_000023.10:g.107431169C>T	(Likely) benign	1 lab	390d15de5c
6:36238323 PNPLA1 G>A	6	36238323	36238323	G	A	PNPLA1	c.87G>A	NM_001145717.1	NP_001139189.2:p.(Ala29=)	NC_000006.11:g.36238323G>A	(Likely) benign	1 lab	390dc6a99e
8:90995017 NBN A>G	8	90995017	90995017	A	G	NBN	c.104T>C	NM_002485.4	NP_002476.2:p.(Ile35Thr)	NC_000008.10:g.90995017A>G	VUS	1 lab	390e6d07bc
17:11666861 DNAH9 A>G	17	11666861	11666861	A	G	DNAH9	c.7100A>G	NM_001372.3	NP_001363.2:p.(Lys2367Arg)	NC_000017.10:g.11666861A>G	VUS	1 lab	390f668cfe
17:15905285 TTC19 T>A	17	15905285	15905285	T	A	TTC19	c.48T>A	NM_001271420.1	NP_001258349.1:p.(Leu16=)	NC_000017.10:g.15905285T>A	(Likely) benign	1 lab	3910606ac7
X:135405044 ADGRG4 G>A	X	135405044	135405044	G	A	ADGRG4	c.178G>A	NM_153834.3	NP_722576.3:p.(Asp60Asn)	NC_000023.10:g.135405044G>A	VUS	1 lab	3911249923
14:89068345 ZC3H14 G>A	14	89068345	89068345	G	A	ZC3H14	c.1330G>A	NM_001326297.1	NP_001313226.1:p.(Val444Ile)	NC_000014.8:g.89068345G>A	(Likely) benign	1 lab	3913b36d17
10:101715124 DNMBP G>A	10	101715124	101715124	G	A	DNMBP	c.2107C>T	NM_015221.4	NP_056036.1:p.(Arg703Trp)	NC_000010.10:g.101715124G>A	VUS	1 lab	391407b858
4:88535923 DSPP T>C	4	88535923	88535923	T	C	DSPP	c.2109T>C	NM_014208.3	NP_055023.2:p.(Asp703=)	NC_000004.11:g.88535923T>C	(Likely) benign	1 lab	3914e2d559
14:103420978 CDC42BPB C>T	14	103420978	103420978	C	T	CDC42BPB	c.2949G>A	NM_006035.4	NP_006026.3:p.(Ala983=)	NC_000014.8:g.103420978C>T	(Likely) benign	1 lab	391590ee8e
6:131917741 MED23 G>A	6	131917741	131917741	G	A	MED23	c.2695C>T	NM_004830.4	NP_004821.2:p.(Arg899Ter)	NC_000006.11:g.131917741G>A	VUS	1 lab	eb5300ef9a
12:111729241 CUX2 G>A	12	111729241	111729241	G	A	CUX2	c.321G>A	NM_015267.3	NP_056082.2:p.(Glu107=)	NC_000012.11:g.111729241G>A	(Likely) benign	1 lab	3918465d58
12:100452978 BLTP3B C>T	12	100452978	100452978	C	T	BLTP3B	c.2077G>A	NM_015054.2	NP_055869.1:p.(Val693Ile)	NC_000012.11:g.100452978C>T	VUS	1 lab	391976d28d
4:126238408 FAT4 C>T	4	126238408	126238408	C	T	FAT4	c.842C>T	NM_024582.4	NP_078858.4:p.(Thr281Ile)	NC_000004.11:g.126238408C>T	VUS	1 lab	3919af9b9c
2:211518833 CPS1 G>A	2	211518833	211518833	G	A	CPS1	c.3558+7G>A	NM_001875.4	NP_001866.2:p.?	NC_000002.11:g.211518833G>A	(Likely) benign	1 lab	391ac83f9a
7:92761722 SAMD9L C>G	7	92761722	92761722	C	G	SAMD9L	c.3563G>C	NM_152703.4	NP_689916.2:p.(Arg1188Pro)	NC_000007.13:g.92761722C>G	VUS	1 lab	391db3727b
1:228563418 OBSCN C>T	1	228563418	228563418	C	T	OBSCN	c.25550C>T	NM_001271223.2	NP_001258152.2:p.(Ser8517Leu)	NC_000001.10:g.228563418C>T	(Likely) benign	1 lab	391e3cde5b
10:78647100 KCNMA1 G>A	10	78647100	78647100	G	A	KCNMA1	c.3563C>T	NM_001322830.1	NP_001309759.1:p.(Thr1188Ile)	NC_000010.10:g.78647100G>A	VUS	1 lab	392092dc72
17:56285504 MKS1 G>GTGAAT	17	56285504	56285509	G	GTGAAT	MKS1	c.1122_1126dup	NM_017777.3	NP_060247.2:p.(Thr376AsnfsTer56)	NC_000017.10:g.56285505_56285509dup	(Likely) pathogenic	1 lab	3922a18570
9:2086897 SMARCA2 G>A	9	2086897	2086897	G	A	SMARCA2	c.2595G>A	NM_003070.4	NP_003061.3:p.(Gln865=)	NC_000009.11:g.2086897G>A	(Likely) benign	1 lab	39245d9e5f
1:31349481 SDC3 GCC>G	1	31349481	31349483	GCC	G	SDC3	c.786_787del	NM_014654.4	NP_055469.3:p.(Ala263HisfsTer6)	NC_000001.10:g.31349482_31349483del	VUS	1 lab	39254341cd
X:10174795 CLCN4 C>T	X	10174795	10174795	C	T	CLCN4	c.822C>T	NM_001830.3	NP_001821.2:p.(Gly274=)	NC_000023.10:g.10174795C>T	(Likely) benign	1 lab	39259ca85c
13:103527697 ERCC5 A>G	13	103527697	103527697	A	G	ERCC5	c.3005A>G	NM_000123.3	NP_000114.2:p.(Gln1002Arg)	NC_000013.10:g.103527697A>G	(Likely) benign	1 lab	39268df0ec
16:4942203 PPL G>A	16	4942203	4942203	G	A	PPL	c.1662C>T	NM_002705.5	NP_002696.4:p.(Asn554=)	NC_000016.9:g.4942203G>A	(Likely) benign	1 lab	3926910bc4
14:104641456 KIF26A C>T	14	104641456	104641456	C	T	KIF26A	c.2331C>T	NM_015656.1	NP_056471.1:p.(Pro777=)	NC_000014.8:g.104641456C>T	(Likely) benign	1 lab	3926935a77
6:32049413 TNXB G>A	6	32049413	32049413	G	A	TNXB	c.3774C>T	NM_019105.6	NP_061978.6:p.(Phe1258=)	NC_000006.11:g.32049413G>A	(Likely) benign	1 lab	39285e10ea
6:31930566 SKIC2 C>T	6	31930566	31930566	C	T	SKIC2	c.1287C>T	NM_006929.4	NP_008860.4:p.(Asn429=)	NC_000006.11:g.31930566C>T	(Likely) benign	1 lab	39297db16a
X:53296242 IQSEC2 C>T	X	53296242	53296242	C	T	IQSEC2	c.127G>A	NM_001243197.1	NP_001230126.1:p.(Glu43Lys)	NC_000023.10:g.53296242C>T	(Likely) benign	1 lab	3929c3e57c
5:140054712 HARS1 C>T	5	140054712	140054712	C	T	HARS1	c.1201G>A	NM_002109.6	NP_002100.2:p.(Glu401Lys)	NC_000005.9:g.140054712C>T	(Likely) benign	1 lab	392a0f9785
4:9998440 SLC2A9 C>T	4	9998440	9998440	C	T	SLC2A9	c.288G>A	NM_001001290.2	NP_001001290.1:p.(Thr96=)	NC_000004.11:g.9998440C>T	(Likely) benign	1 lab	eb556fef97
4:170400583 NEK1 C>T	4	170400583	170400583	C	T	NEK1	c.2110G>A	NM_001199397.1	NP_001186326.1:p.(Val704Ile)	NC_000004.11:g.170400583C>T	(Likely) benign	1 lab	392b01f96c
1:17682859 PADI4 G>A	1	17682859	17682859	G	A	PADI4	c.1463G>A	NM_012387.2	NP_036519.2:p.(Arg488Gln)	NC_000001.10:g.17682859G>A	VUS	1 lab	392b8f114b
11:44129641 EXT2 TC>T	11	44129641	44129644	TC	T	EXT2	c.382del	NM_207122.2	NP_997005.1:p.(Arg128GlyfsTer142)	NC_000011.9:g.44129644del	(Likely) pathogenic	1 lab	392c933112
2:207636707 FASTKD2 T>C	2	207636707	207636707	T	C	FASTKD2	c.1080T>C	NM_001136194.1	NP_001129666.1:p.(Leu360=)	NC_000002.11:g.207636707T>C	(Likely) benign	1 lab	392ceb45aa
6:7576653 DSP T>G	6	7576653	7576653	T	G	DSP	c.2757T>G	NM_004415.2	NP_004406.2:p.(Asp919Glu)	NC_000006.11:g.7576653T>G	(Likely) benign	1 lab	392d4ccc03
12:120569108 GCN1 G>A	12	120569108	120569108	G	A	GCN1	c.7444C>T	NM_006836.2	NP_006827.1:p.(Arg2482Trp)	NC_000012.11:g.120569108G>A	VUS	1 lab	392f35f8ef
14:31355311 COCH T>G	14	31355311	31355311	T	G	COCH	c.1270T>G	NM_001135058.1	NP_001128530.1:p.(Tyr424Asp)	NC_000014.8:g.31355311T>G	VUS	1 lab	3931f903a4
19:1465259 APC2 G>A	19	1465259	1465259	G	A	APC2	c.1959G>A	NM_005883.2	NP_005874.1:p.(Ser653=)	NC_000019.9:g.1465259G>A	(Likely) benign	1 lab	3933bdf9cd
X:131231368 FRMD7 A>G	X	131231368	131231368	A	G	FRMD7	c.210T>C	NM_194277.2	NP_919253.1:p.(Pro70=)	NC_000023.10:g.131231368A>G	(Likely) benign	1 lab	39358fc6fb
1:150526134 ADAMTSL4 A>T	1	150526134	150526134	A	T	ADAMTSL4	c.667A>T	NM_001288608.1	NP_001275537.1:p.(Thr223Ser)	NC_000001.10:g.150526134A>T	(Likely) benign	1 lab	3935ba574a
10:93621747 TNKS2 G>A	10	93621747	93621747	G	A	TNKS2	c.3282-9G>A	NM_025235.4	NP_079511.1:p.?	NC_000010.10:g.93621747G>A	(Likely) benign	1 lab	3935f0c37e
X:140983319 MAGEC3 C>T	X	140983319	140983319	C	T	MAGEC3	c.1097C>T	NM_138702.1	NP_619647.1:p.(Ala366Val)	NC_000023.10:g.140983319C>T	(Likely) benign	1 lab	3936d443c6
19:1106554 GPX4 C>T	19	1106554	1106554	C	T	GPX4	c.599C>T	NM_001039847.3	NP_001034936.1:p.(Pro200Leu)	NC_000019.9:g.1106554C>T	VUS	1 lab	393895a76a
15:48733971 FBN1 T>G	15	48733971	48733971	T	G	FBN1	c.6110A>C	NM_000138.4	NP_000129.3:p.(Lys2037Thr)	NC_000015.9:g.48733971T>G	(Likely) benign	1 lab	3938bfef29
17:44248293 KANSL1 C>CTACT	17	44248293	44248297	C	CTACT	KANSL1	c.1213_1216dup	NM_001193466.1	NP_001180395.1:p.(Ser406LysfsTer2)	NC_000017.10:g.44248294_44248297dup	(Likely) pathogenic	1 lab	3939793099
9:13115337 MPDZ G>C	9	13115337	13115337	G	C	MPDZ	c.5380-4C>G	NM_001330637.1	NP_001317566.1:p.?	NC_000009.11:g.13115337G>C	(Likely) benign	1 lab	393f638c83
9:131115002 SLC27A4 C>T	9	131115002	131115002	C	T	SLC27A4	c.963C>T	NM_005094.3	NP_005085.2:p.(Asp321=)	NC_000009.11:g.131115002C>T	(Likely) benign	1 lab	3940375f6b
12:133197899 P2RX2 G>A	12	133197899	133197899	G	A	P2RX2	c.964G>A	NM_001282165.1	NP_001269094.1:p.(Gly322Arg)	NC_000012.11:g.133197899G>A	VUS	1 lab	39411120b4
1:161180482 NDUFS2 G>A	1	161180482	161180482	G	A	NDUFS2	c.968G>A	NM_001166159.1	NP_001159631.1:p.(Arg323Gln)	NC_000001.10:g.161180482G>A	(Likely) benign	1 lab	3943612689
8:87591429 CNGB3 G>T	8	87591429	87591429	G	T	CNGB3	c.1833C>A	NM_019098.4	NP_061971.3:p.(His611Gln)	NC_000008.10:g.87591429G>T	VUS	1 lab	3943613fa5
8:100883863 VPS13B A>G	8	100883863	100883863	A	G	VPS13B	c.11758A>G	NM_017890.4	NP_060360.3:p.(Ser3920Gly)	NC_000008.10:g.100883863A>G	(Likely) benign	1 lab	3943baa25f
12:6697034 CHD4 G>A	12	6697034	6697034	G	A	CHD4	c.3547C>T	NM_001273.4	NP_001264.2:p.(Arg1183Cys)	NC_000012.11:g.6697034G>A	(Likely) pathogenic	1 lab	3946692cfc
10:78944626 KCNMA1 G>A	10	78944626	78944626	G	A	KCNMA1	c.651C>T	NM_001322830.1	NP_001309759.1:p.(Ile217=)	NC_000010.10:g.78944626G>A	(Likely) benign	1 lab	39491d3d05
1:206945648 IL10 G>A	1	206945648	206945648	G	A	IL10	c.133C>T	NM_000572.3	NP_000563.1:p.(Arg45Ter)	NC_000001.10:g.206945648G>A	VUS	1 lab	394cd1f6f6
15:85186836 WDR73 A>G	15	85186836	85186836	A	G	WDR73	c.1002T>C	NM_032856.3	NP_116245.2:p.(Asp334=)	NC_000015.9:g.85186836A>G	(Likely) benign	1 lab	394cdbc88a
13:96439282 DNAJC3 T>C	13	96439282	96439282	T	C	DNAJC3	c.1230T>C	NM_006260.4	NP_006251.1:p.(Ile410=)	NC_000013.10:g.96439282T>C	(Likely) benign	1 lab	394d4a29c3
X:47061594 UBA1 C>G	X	47061594	47061594	C	G	UBA1	c.851C>G	NM_003334.4	NP_003325.2:p.(Ser284Cys)	NC_000023.10:g.47061594C>G	VUS	1 lab	394e9c6083
12:88486509 CEP290 C>T	12	88486509	88486509	C	T	CEP290	c.3410G>A	NM_025114.3	NP_079390.3:p.(Arg1137Gln)	NC_000012.11:g.88486509C>T	VUS	1 lab	394ec35275
7:21818567 DNAH11 T>C	7	21818567	21818567	T	C	DNAH11				NC_000007.13:g.21818567T>C	(Likely) benign	1 lab	394f80c367
2:234669018 UGT1A1 A>T	2	234669018	234669018	A	T	UGT1A1	c.85A>T	NM_000463.2	NP_000454.1:p.(Lys29Ter)	NC_000002.11:g.234669018A>T	(Likely) pathogenic	1 lab	394f99924b
15:82932507 MISSING A>C	15	82932507	82932507	A	C	MISSING				NC_000015.9:g.82932507A>C	(Likely) benign	1 lab	394fbbc505
11:108183193 ATM AAAAGT>A	11	108183193	108183202	AAAAGT	A	ATM	c.5979_5983del	NM_000051.4	NP_000042.3:p.(Ser1993ArgfsTer23)	NC_000011.9:g.108183198_108183202del	(Likely) pathogenic	1 lab	3950ef96f3
18:56202418 ALPK2 T>C	18	56202418	56202418	T	C	ALPK2	c.5001A>G	NM_052947.4	NP_443179.3:p.(Lys1667=)	NC_000018.9:g.56202418T>C	(Likely) benign	1 lab	39516520fb
3:195975091 PCYT1A G>A	3	195975091	195975091	G	A	PCYT1A	c.321C>T	NM_001312673.2	NP_001299602.1:p.(Tyr107=)	NC_000003.11:g.195975091G>A	(Likely) benign	1 lab	3953907f1d
6:31609629 BAG6 C>T	6	31609629	31609629	C	T	BAG6	c.2339G>A	NM_004639.3	NP_004630.3:p.(Arg780Gln)	NC_000006.11:g.31609629C>T	VUS	1 lab	3953a6a939
16:84046615 SLC38A8 G>A	16	84046615	84046615	G	A	SLC38A8	c.1205C>T	NM_001080442.2	NP_001073911.1:p.(Pro402Leu)	NC_000016.9:g.84046615G>A	VUS	1 lab	3954142c37
1:55352630 DHCR24 A>T	1	55352630	55352630	A	T	DHCR24	c.163T>A	NM_014762.4	NP_055577.1:p.(Trp55Arg)	NC_000001.10:g.55352630A>T	VUS	1 lab	3954bcab00
12:1020266 WNK1 T>C	12	1020266	1020266	T	C	WNK1	c.*2308T>C	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.1020266T>C	(Likely) benign	1 lab	360c530059
9:32472996 RIGI C>T	9	32472996	32472996	C	T	RIGI	c.1991G>A	NM_014314.4	NP_055129.2:p.(Arg664His)	NC_000009.11:g.32472996C>T	(Likely) benign	1 lab	eb5f21f625
2:210636895 UNC80 G>A	2	210636895	210636895	G	A	UNC80	c.92+7G>A	NM_032504.1	NP_115893.1:p.?	NC_000002.11:g.210636895G>A	(Likely) benign	1 lab	395b773a6f
18:33828876 MOCOS G>C	18	33828876	33828876	G	C	MOCOS	c.1961-9G>C	NM_017947.3	NP_060417.3:p.?	NC_000018.9:g.33828876G>C	(Likely) benign	1 lab	395e769c42
15:62208039 VPS13C T>C	15	62208039	62208039	T	C	VPS13C	c.8238A>G	NM_001018088.2	NP_001018098.1:p.(Thr2746=)	NC_000015.9:g.62208039T>C	(Likely) benign	1 lab	39618e1978
6:129511468 LAMA2 G>A	6	129511468	129511468	G	A	LAMA2	c.1586G>A	NM_000426.3	NP_000417.2:p.(Ser529Asn)	NC_000006.11:g.129511468G>A	(Likely) benign	1 lab	396381ffa9
8:1719273 CLN8 A>T	8	1719273	1719273	A	T	CLN8	c.53A>T	NM_018941.3	NP_061764.2:p.(Tyr18Phe)	NC_000008.10:g.1719273A>T	VUS	1 lab	3963bc3bb4
11:113265649 ANKK1 A>T	11	113265649	113265649	A	T	ANKK1	c.481-2A>T	NM_178510.1	NP_848605.1:p.?	NC_000011.9:g.113265649A>T	VUS	1 lab	396488675e
11:76916521 MYO7A G>A	11	76916521	76916521	G	A	MYO7A	c.5495G>A	NM_000260.3	NP_000251.3:p.(Arg1832Gln)	NC_000011.9:g.76916521G>A	VUS	1 lab	3964df23b5
15:48434479 SLC24A5 T>C	15	48434479	48434479	T	C	SLC24A5	c.1434T>C	NM_205850.2	NP_995322.1:p.(Leu478=)	NC_000015.9:g.48434479T>C	(Likely) benign	1 lab	396701cbfd
2:96780986 ADRA2B C>CTCCTCCTCT	2	96780986	96780997	C	CTCCTCCTCT	ADRA2B	c.894_912=	NM_000682.7	NP_000673.2:p.(Glu298_Glu304=)	NC_000002.11:g.96780989_96780997dup	(Likely) benign	1 lab	eb64d480ed
6:87966562 ZNF292 C>T	6	87966562	87966562	C	T	ZNF292	c.2795C>T	NM_001351444.2	NP_001338373.1:p.(Ala932Val)	NC_000006.11:g.87966562C>T	VUS	1 lab	eb64ed9254
3:142215366 ATR AAGGAAGT>A	3	142215366	142215374	AAGGAAGT	A	ATR	c.5739-11_5739-5del	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142215368_142215374del	(Likely) benign	1 lab	3967c02002
2:179401787 TTN G>A	2	179401787	179401787	G	A	TTN	c.100049C>T	NM_001267550.1	NP_001254479.1:p.(Thr33350Ile)	NC_000002.11:g.179401787G>A	VUS	1 lab	39681eb719
3:48619925 COL7A1 G>A	3	48619925	48619925	G	A	COL7A1	c.4585C>T	NM_000094.4	NP_000085.1:p.(Arg1529Cys)	NC_000003.11:g.48619925G>A	VUS	1 lab	eb666e171d
19:14037324 CC2D1A C>T	19	14037324	14037324	C	T	CC2D1A	c.1941-6C>T	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14037324C>T	(Likely) benign	1 lab	396aa852ae
19:42482916 ATP1A3 T>C	19	42482916	42482916	T	C	ATP1A3	c.1511A>G	NM_001256214.1	NP_001243143.1:p.(Asn504Ser)	NC_000019.9:g.42482916T>C	VUS	1 lab	396d270adc
6:72889480 RIMS1 C>T	6	72889480	72889480	C	T	RIMS1	c.674C>T	NM_014989.5	NP_055804.2:p.(Ala225Val)	NC_000006.11:g.72889480C>T	VUS	1 lab	39719ad427
6:10764835 MAK A>G	6	10764835	10764835	A	G	MAK	c.1797T>C	NM_001242957.2	NP_001229886.1:p.(Tyr599=)	NC_000006.11:g.10764835A>G	(Likely) benign	1 lab	3972dce684
9:116155760 ALAD T>C	9	116155760	116155760	T	C	ALAD	c.1A>G	NM_001003945.2	NP_001003945.1:p.(Met1?)	NC_000009.11:g.116155760T>C	VUS	1 lab	39736d75fd
1:12062058 MFN2 C>T	1	12062058	12062058	C	T	MFN2	c.1058C>T	NM_014874.3	NP_055689.1:p.(Ala353Val)	NC_000001.10:g.12062058C>T	VUS	1 lab	3975025040
9:123342206 CDK5RAP2 G>A	9	123342206	123342206	G	A	CDK5RAP2	c.51C>T	NM_018249.5	NP_060719.4:p.(Ser17=)	NC_000009.11:g.123342206G>A	(Likely) benign	1 lab	39778dab08
19:50335190 MED25 C>T	19	50335190	50335190	C	T	MED25	c.1231-3C>T	NM_030973.3	NP_112235.2:p.?	NC_000019.9:g.50335190C>T	(Likely) benign	1 lab	3977a8f33c
X:13786846 OFD1 A>C	X	13786846	13786846	A	C	OFD1	c.2518A>C	NM_001330210.1	NP_001317139.1:p.(Lys840Gln)	NC_000023.10:g.13786846A>C	VUS	1 lab	3977cc5a8e
3:9982571 CRELD1 C>T	3	9982571	9982571	C	T	CRELD1	c.498C>T	NM_015513.4	NP_056328.2:p.(Tyr166=)	NC_000003.11:g.9982571C>T	(Likely) benign	1 lab	3979e590a0
7:143017760 CLCN1 G>T	7	143017760	143017760	G	T	CLCN1	c.305G>T	NM_000083.2	NP_000074.2:p.(Cys102Phe)	NC_000007.13:g.143017760G>T	VUS	1 lab	397aa928b6
5:76621357 PDE8B G>T	5	76621357	76621357	G	T	PDE8B	c.28-7G>T	NM_001349753.1	NP_001336682.1:p.?	NC_000005.9:g.76621357G>T	(Likely) benign	1 lab	397b41ed80
14:88452861 GALC CTTA>C	14	88452861	88452864	CTTA	C	GALC	c.411_413del	NM_000153.4	NP_000144.2:p.(Lys139del)	NC_000014.8:g.88452862_88452864del	(Likely) pathogenic	1 lab	397bdb6c7f
14:103941361 MARK3 T>A	14	103941361	103941361	T	A	MARK3	c.1296T>A	NM_001128918.2	NP_001122390.2:p.(Tyr432Ter)	NC_000014.8:g.103941361T>A	VUS	1 lab	397c9798b1
5:90041544 ADGRV1 A>G	5	90041544	90041544	A	G	ADGRV1	c.10906A>G	NM_032119.4	NP_115495.3:p.(Ile3636Val)	NC_000005.9:g.90041544A>G	(Likely) benign	1 lab	397ce3d542
14:21991589 SALL2 G>C	14	21991589	21991589	G	C	SALL2	c.2273C>G	NM_005407.2	NP_005398.2:p.(Pro758Arg)	NC_000014.8:g.21991589G>C	VUS	1 lab	397fc8af46
4:1806087 FGFR3 C>G	4	1806087	1806087	C	G	FGFR3	c.1106C>G	NM_000142.4	NP_000133.1:p.(Ala369Gly)	NC_000004.11:g.1806087C>G	(Likely) benign	1 lab	397fd6b580
X:38037593 SRPX C>G	X	38037593	38037593	C	G	SRPX	c.102G>C	NM_006307.4	NP_006298.1:p.(Ser34=)	NC_000023.10:g.38037593C>G	(Likely) benign	1 lab	397fe5ba13
9:2643959 VLDLR C>T	9	2643959	2643959	C	T	VLDLR	c.1066C>T	NM_003383.4	NP_003374.3:p.(His356Tyr)	NC_000009.11:g.2643959C>T	(Likely) benign	1 lab	3980a654e1
10:78729761 KCNMA1 G>C	10	78729761	78729761	G	C	KCNMA1	c.2178C>G	NM_001322830.1	NP_001309759.1:p.(Asn726Lys)	NC_000010.10:g.78729761G>C	VUS	1 lab	3983cc5d18
5:112154935 APC T>A	5	112154935	112154935	T	A	APC				NC_000005.9:g.112154935T>A	(Likely) benign	1 lab	3984676aaf
1:57378149 C8A G>A	1	57378149	57378149	G	A	C8A	c.1454G>A	NM_000562.2	NP_000553.1:p.(Arg485His)	NC_000001.10:g.57378149G>A	(Likely) benign	1 lab	3984809078
22:32875033 FBXO7 TG>T	22	32875033	32875035	TG	T	FBXO7	c.190del	NM_012179.4	NP_036311.3:p.(Ala64LeufsTer10)	NC_000022.10:g.32875035del	(Likely) pathogenic	1 lab	3985a49cbf
17:42477386 GPATCH8 G>A	17	42477386	42477386	G	A	GPATCH8	c.1825C>T	NM_001304940.1	NP_001291869.1:p.(His609Tyr)	NC_000017.10:g.42477386G>A	VUS	1 lab	3986028a95
X:47308273 ZNF41 C>T	X	47308273	47308273	C	T	ZNF41	c.896G>A	NM_007130.3	NP_009061.1:p.(Arg299His)	NC_000023.10:g.47308273C>T	(Likely) benign	1 lab	3986afec76
16:53503894 RBL2 G>A	16	53503894	53503894	G	A	RBL2	c.2042G>A	NM_005611.4	NP_005602.3:p.(Arg681Gln)	NC_000016.9:g.53503894G>A	VUS	1 lab	3987076412
16:30736135 SRCAP C>T	16	30736135	30736135	C	T	SRCAP	c.5390C>T	NM_006662.2	NP_006653.2:p.(Thr1797Ile)	NC_000016.9:g.30736135C>T	(Likely) benign	1 lab	398c06fae0
1:198685967 PTPRC C>T	1	198685967	198685967	C	T	PTPRC	c.1448C>T	NM_002838.4	NP_002829.3:p.(Ala483Val)	NC_000001.10:g.198685967C>T	(Likely) benign	1 lab	398ce1b763
10:129901568 MKI67 C>T	10	129901568	129901568	C	T	MKI67	c.8536G>A	NM_002417.4	NP_002408.3:p.(Ala2846Thr)	NC_000010.10:g.129901568C>T	(Likely) benign	1 lab	398ceadb76
8:28575098 EXTL3 A>G	8	28575098	28575098	A	G	EXTL3	c.1522A>G	NM_001440.3	NP_001431.1:p.(Met508Val)	NC_000008.10:g.28575098A>G	VUS	1 lab	398eb69bc2
18:55996244 NEDD4L C>T	18	55996244	55996244	C	T	NEDD4L	c.698C>T	NM_001144967.2	NP_001138439.1:p.(Ser233Leu)	NC_000018.9:g.55996244C>T	(Likely) benign	1 lab	398f25532a
6:65301033 EYS T>G	6	65301033	65301033	T	G	EYS	c.4727A>C	NM_001292009.1	NP_001278938.1:p.(His1576Pro)	NC_000006.11:g.65301033T>G	(Likely) benign	1 lab	3991e9e68c
8:100711810 VPS13B T>C	8	100711810	100711810	T	C	VPS13B	c.6179T>C	NM_017890.4	NP_060360.3:p.(Leu2060Pro)	NC_000008.10:g.100711810T>C	VUS	1 lab	3992a94f23
2:121747283 GLI2 C>G	2	121747283	121747283	C	G	GLI2	c.3793C>G	NM_005270.4	NP_005261.2:p.(Gln1265Glu)	NC_000002.11:g.121747283C>G	(Likely) benign	1 lab	39955160da
8:144993572 PLEC C>T	8	144993572	144993572	C	T	PLEC	c.10828G>A	NM_201380.3	NP_958782.1:p.(Gly3610Ser)	NC_000008.10:g.144993572C>T	VUS	1 lab	3996a816a4
19:3612135 CACTIN T>C	19	3612135	3612135	T	C	CACTIN	c.2063A>G	NM_001080543.2	NP_001074012.1:p.(Lys688Arg)	NC_000019.9:g.3612135T>C	VUS	1 lab	3996db773f
2:71796977 DYSF C>T	2	71796977	71796977	C	T	DYSF	c.2889C>T	NM_001130981.1	NP_001124453.1:p.(His963=)	NC_000002.11:g.71796977C>T	(Likely) benign	1 lab	3997b7ec50
20:10625508 JAG1 CA>C	20	10625508	10625509	CA	C	JAG1	c.2344+2del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625509del	(Likely) pathogenic	1 lab	39989b731f
11:36597513 RAG1 G>A	11	36597513	36597513	G	A	RAG1	c.2659G>A	NM_000448.2	NP_000439.1:p.(Asp887Asn)	NC_000011.9:g.36597513G>A	(Likely) benign	1 lab	399a80284e
X:38260562 OTC C>T	X	38260562	38260562	C	T	OTC	c.421C>T	NM_000531.6	NP_000522.3:p.(Arg141Ter)	NC_000023.10:g.38260562C>T	(Likely) pathogenic	1 lab	eb6e2b0fba
2:27684661 IFT172 G>A	2	27684661	27684661	G	A	IFT172	c.2158C>T	NM_015662.2	NP_056477.1:p.(Arg720Cys)	NC_000002.11:g.27684661G>A	VUS	1 lab	399e708e68
15:85405949 ALPK3 C>A	15	85405949	85405949	C	A	ALPK3	c.4213C>A	NM_020778.5	NP_065829.4:p.(Arg1405=)	NC_000015.9:g.85405949C>A	(Likely) benign	1 lab	eb6ebaa1d6
7:127894780 LEP C>T	7	127894780	127894780	C	T	LEP	c.468C>T	NM_000230.2	NP_000221.1:p.(Asp156=)	NC_000007.13:g.127894780C>T	(Likely) benign	1 lab	39a21753c5
13:32954215 BRCA2 AG>A	13	32954215	32954216	AG	A	BRCA2	c.9190del	NM_000059.4	NP_000050.3:p.(Asp3064ThrfsTer11)	NC_000013.10:g.32954216del	(Likely) pathogenic	1 lab	39a23df4c0
17:4918035 KIF1C C>T	17	4918035	4918035	C	T	KIF1C	c.1572-3C>T	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4918035C>T	(Likely) benign	1 lab	39a32ae01f
1:237538008 RYR2 A>G	1	237538008	237538008	A	G	RYR2	c.385-9A>G	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237538008A>G	(Likely) benign	1 lab	39a3507f51
19:3979426 EEF2 G>T	19	3979426	3979426	G	T	EEF2	c.1614C>A	NM_001961.3	NP_001952.1:p.(Ile538=)	NC_000019.9:g.3979426G>T	(Likely) benign	1 lab	39a512a087
13:20626451 ZMYM2 A>G	13	20626451	20626451	A	G	ZMYM2	c.2493A>G	NM_001353162.1	NP_001340091.1:p.(Thr831=)	NC_000013.10:g.20626451A>G	(Likely) benign	1 lab	39a6d18ff7
16:70954909 HYDIN A>G	16	70954909	70954909	A	G	HYDIN	c.7370T>C	NM_001270974.2	NP_001257903.1:p.(Phe2457Ser)	NC_000016.9:g.70954909A>G	VUS	1 lab	39a73e10e8
14:20840931 TEP1 T>C	14	20840931	20840931	T	C	TEP1	c.7037A>G	NM_007110.5	NP_009041.2:p.(Gln2346Arg)	NC_000014.8:g.20840931T>C	(Likely) benign	1 lab	39a7dbe4f8
X:23803838 SAT1 C>T	X	23803838	23803838	C	T	SAT1	c.381C>T	NM_002970.3	NP_002961.1:p.(Phe127=)	NC_000023.10:g.23803838C>T	(Likely) benign	1 lab	39a866fc72
2:98351032 ZAP70 C>G	2	98351032	98351032	C	G	ZAP70	c.939C>G	NM_001079.3	NP_001070.2:p.(Ser313Arg)	NC_000002.11:g.98351032C>G	(Likely) benign	1 lab	39a8c12114
3:71019900 FOXP1 T>C	3	71019900	71019900	T	C	FOXP1	c.1706A>G	NM_001244808.1	NP_001231737.1:p.(Asn569Ser)	NC_000003.11:g.71019900T>C	(Likely) benign	1 lab	39a8f909f6
8:87641259 CNGB3 G>A	8	87641259	87641259	G	A	CNGB3	c.1368C>T	NM_019098.4	NP_061971.3:p.(Arg456=)	NC_000008.10:g.87641259G>A	(Likely) benign	1 lab	39a9ba4bd2
9:123783942 C5 C>A	9	123783942	123783942	C	A	C5	c.1165G>T	NM_001317163.1	NP_001304092.1:p.(Val389Leu)	NC_000009.11:g.123783942C>A	VUS	1 lab	39a9e8d381
19:50752282 MYH14 C>T	19	50752282	50752282	C	T	MYH14	c.1368C>T	NM_001145809.1	NP_001139281.1:p.(Tyr456=)	NC_000019.9:g.50752282C>T	(Likely) benign	1 lab	39aaed299b
6:143081568 HIVEP2 C>G	6	143081568	143081568	C	G	HIVEP2	c.5857G>C	NM_006734.3	NP_006725.3:p.(Val1953Leu)	NC_000006.11:g.143081568C>G	(Likely) benign	1 lab	39ab70253d
9:135940025 CEL AG>A	9	135940025	135940028	AG	A	CEL	c.219del	NM_001807.6	NP_001798.3:p.(Thr74ProfsTer2)	NC_000009.11:g.135940028del	VUS	1 lab	eb713dde72
6:33140870 COL11A2 G>A	6	33140870	33140870	G	A	COL11A2	c.2757C>T	NM_080680.2	NP_542411.2:p.(Gly919=)	NC_000006.11:g.33140870G>A	(Likely) benign	1 lab	39acb55317
11:102984921 DYNC2H1 A>G	11	102984921	102984921	A	G	DYNC2H1	c.456A>G	NM_001080463.1	NP_001073932.1:p.(Ser152=)	NC_000011.9:g.102984921A>G	(Likely) benign	1 lab	39ae0fb541
X:148577950 IDS T>A	X	148577950	148577950	T	A	IDS	c.806A>T	NM_000202.7	NP_000193.1:p.(Asp269Val)	NC_000023.10:g.148577950T>A	(Likely) pathogenic	1 lab	39ae9df338
20:55027005 CASS4 C>T	20	55027005	55027005	C	T	CASS4	c.773C>T	NM_001164116.1	NP_001157588.1:p.(Thr258Met)	NC_000020.10:g.55027005C>T	(Likely) benign	1 lab	39b21a63cf
19:12920927 RNASEH2A C>T	19	12920927	12920927	C	T	RNASEH2A	c.454C>T	NM_006397.2	NP_006388.2:p.(Arg152Trp)	NC_000019.9:g.12920927C>T	VUS	1 lab	39b26b6fc9
16:89869761 FANCA T>C	16	89869761	89869761	T	C	FANCA	c.710-12A>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89869761T>C	(Likely) benign	1 lab	eb72dfc8c2
3:38049265 PLCD1 T>C	3	38049265	38049265	T	C	PLCD1	c.2333A>G	NM_001130964.1	NP_001124436.1:p.(Ter778TrpextTer10)	NC_000003.11:g.38049265T>C	(Likely) pathogenic	1 lab	39b49f0684
9:98740438 ERCC6L2 G>A	9	98740438	98740438	G	A	ERCC6L2	c.3466G>A	NM_020207.4	NP_064592.2:p.(Val1156Ile)	NC_000009.11:g.98740438G>A	VUS	1 lab	39b4f6a49b
9:101748303 COL15A1 C>T	9	101748303	101748303	C	T	COL15A1	c.557C>T	NM_001855.5	NP_001846.3:p.(Pro186Leu)	NC_000009.11:g.101748303C>T	(Likely) benign	1 lab	39b6d79f9b
5:37108560 CPLANE1 C>T	5	37108560	37108560	C	T	CPLANE1	c.9252G>A	NM_023073.3	NP_075561.3:p.(Pro3084=)	NC_000005.9:g.37108560C>T	(Likely) benign	1 lab	39b714c33f
17:56438241 RNF43 C>A	17	56438241	56438241	C	A	RNF43	c.752G>T	NM_017763.5	NP_060233.3:p.(Ser251Ile)	NC_000017.10:g.56438241C>A	(Likely) benign	1 lab	39b82d1015
16:2136815 TSC2 C>CT	16	2136815	2136818	C	CT	TSC2	c.4935dup	NM_000548.3	NP_000539.2:p.(Val1646CysfsTer7)	NC_000016.9:g.2136818dup	(Likely) pathogenic	1 lab	39b91368f3
2:197729765 PGAP1 C>T	2	197729765	197729765	C	T	PGAP1	c.1285G>A	NM_001321099.1	NP_001308028.1:p.(Val429Ile)	NC_000002.11:g.197729765C>T	(Likely) benign	1 lab	39bebc6c7c
17:29560148 NF1 GTGGAAC>G	17	29560148	29560157	GTGGAAC	G	NF1	c.3629_3634del	NM_001042492.3	NP_001035957.1:p.(Glu1210_Leu1211del)	NC_000017.10:g.29560152_29560157del	(Likely) pathogenic	1 lab	39bf548245
17:78082193 GAA TA>T	17	78082193	78082194	TA	T	GAA	c.1061del	NM_000152.5	NP_000143.2:p.(Tyr354SerfsTer38)	NC_000017.10:g.78082194del	(Likely) pathogenic	1 lab	39bfcdff12
1:196695661 CFH G>T	1	196695661	196695661	G	T	CFH	c.1935G>T	NM_000186.3	NP_000177.2:p.(Thr645=)	NC_000001.10:g.196695661G>T	(Likely) benign	1 lab	39bff022ec
3:93769712 ARL13B C>G	3	93769712	93769712	C	G	ARL13B	c.1186C>G	NM_001174150.1	NP_001167621.1:p.(Pro396Ala)	NC_000003.11:g.93769712C>G	(Likely) benign	1 lab	39c00d3a75
X:48372702 PORCN C>T	X	48372702	48372702	C	T	PORCN	c.548C>T	NM_001282167.1	NP_001269096.1:p.(Thr183Met)	NC_000023.10:g.48372702C>T	VUS	1 lab	39c31a7c3c
5:73205382 ARHGEF28 A>G	5	73205382	73205382	A	G	ARHGEF28	c.4307A>G	NM_001080479.2	NP_001073948.2:p.(Glu1436Gly)	NC_000005.9:g.73205382A>G	VUS	1 lab	39c33bbad0
12:110028593 MVK T>A	12	110028593	110028593	T	A	MVK	c.695T>A	NM_000431.2	NP_000422.1:p.(Ile232Asn)	NC_000012.11:g.110028593T>A	VUS	1 lab	39c3505f0d
3:147131187 ZIC1 G>T	3	147131187	147131187	G	T	ZIC1	c.1193G>T	NM_003412.3	NP_003403.2:p.(Ser398Ile)	NC_000003.11:g.147131187G>T	VUS	1 lab	39c35917a3
6:137525526 IFNGR1 G>A	6	137525526	137525526	G	A	IFNGR1	c.366C>T	NM_001363527.1	NP_001350456.1:p.(Pro122=)	NC_000006.11:g.137525526G>A	(Likely) benign	1 lab	39c38e1cc0
1:21889741 ALPL G>A	1	21889741	21889741	G	A	ALPL	c.436G>A	NM_000478.5	NP_000469.3:p.(Glu146Lys)	NC_000001.10:g.21889741G>A	VUS	1 lab	39c519272c
17:78172311 CARD14 C>T	17	78172311	78172311	C	T	CARD14	c.1772C>T	NM_024110.4	NP_077015.2:p.(Thr591Met)	NC_000017.10:g.78172311C>T	(Likely) benign	1 lab	39c73ec1b4
6:152755087 SYNE1 T>G	6	152755087	152755087	T	G	SYNE1	c.4311-7A>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152755087T>G	(Likely) benign	1 lab	39c9b89307
3:124017659 KALRN A>G	3	124017659	124017659	A	G	KALRN	c.985A>G	NM_001024660.4	NP_001019831.2:p.(Asn329Asp)	NC_000003.11:g.124017659A>G	VUS	1 lab	39d00d255d
6:152749388 SYNE1 G>A	6	152749388	152749388	G	A	SYNE1	c.4928C>T	NM_182961.3	NP_892006.3:p.(Ala1643Val)	NC_000006.11:g.152749388G>A	VUS	1 lab	39d0cd5997
1:3329208 PRDM16 A>G	1	3329208	3329208	A	G	PRDM16	c.2447A>G	NM_022114.3	NP_071397.3:p.(Asn816Ser)	NC_000001.10:g.3329208A>G	VUS	1 lab	39d1763a2f
6:26104455 MISSING CAG>C	6	26104455	26104457	CAG	C	MISSING				NC_000006.11:g.26104456_26104457del	VUS	1 lab	eb74361341
15:49090165 CEP152 G>A	15	49090165	49090165	G	A	CEP152	c.171C>T	NM_001194998.1	NP_001181927.1:p.(Ser57=)	NC_000015.9:g.49090165G>A	(Likely) benign	1 lab	39d37c85e5
20:60895834 LAMA5 G>C	20	60895834	60895834	G	C	LAMA5	c.6609C>G	NM_005560.4	NP_005551.3:p.(Ala2203=)	NC_000020.10:g.60895834G>C	(Likely) benign	1 lab	39d3fcaea0
11:6655359 DCHS1 G>T	11	6655359	6655359	G	T	DCHS1				NC_000011.9:g.6655359G>T	VUS	1 lab	39d4769507
7:2580973 BRAT1 C>T	7	2580973	2580973	C	T	BRAT1	c.1280G>A	NM_152743.3	NP_689956.2:p.(Arg427Gln)	NC_000007.13:g.2580973C>T	VUS	1 lab	39d4891845
18:43467755 EPG5 T>C	18	43467755	43467755	T	C	EPG5	c.5070A>G	NM_020964.3	NP_066015.2:p.(Thr1690=)	NC_000018.9:g.43467755T>C	(Likely) benign	1 lab	39d9418188
10:18112348 MRC1 A>T	10	18112348	18112348	A	T	MRC1	c.366A>T	NM_002438.3	NP_002429.1:p.(Arg122Ser)	NC_000010.10:g.18112348A>T	(Likely) benign	1 lab	39df2a74f4
11:70858206 SHANK2 G>A	11	70858206	70858206	G	A	SHANK2	c.167C>T	NM_012309.4	NP_036441.2:p.(Thr56Met)	NC_000011.9:g.70858206G>A	(Likely) benign	1 lab	39df2b6192
17:60061636 MED13 C>T	17	60061636	60061636	C	T	MED13	c.2784G>A	NM_005121.2	NP_005112.2:p.(Leu928=)	NC_000017.10:g.60061636C>T	(Likely) benign	1 lab	39e04fb162
2:169707660 NOSTRIN C>G	2	169707660	169707660	C	G	NOSTRIN	c.868C>G	NM_001171631.1	NP_001165102.1:p.(His290Asp)	NC_000002.11:g.169707660C>G	(Likely) benign	1 lab	39e05451b2
7:72857139 BAZ1B C>T	7	72857139	72857139	C	T	BAZ1B	c.4010G>A	NM_032408.3	NP_115784.1:p.(Ser1337Asn)	NC_000007.13:g.72857139C>T	(Likely) benign	1 lab	39e1115cdb
17:76121843 TMC6 C>T	17	76121843	76121843	C	T	TMC6	c.394G>A	NM_001127198.2	NP_001120670.1:p.(Asp132Asn)	NC_000017.10:g.76121843C>T	VUS	1 lab	39e1315e08
19:48620943 LIG1 C>A	19	48620943	48620943	C	A	LIG1	c.2532G>T	NM_001320970.1	NP_001307899.1:p.(Lys844Asn)	NC_000019.9:g.48620943C>A	VUS	1 lab	39e1e1ec70
X:148631204 HSFX3 C>T	X	148631204	148631204	C	T	HSFX3	c.194G>A	NM_001323079.1	NP_001310008.1:p.(Arg65Gln)	NC_000023.10:g.148631204C>T	VUS	1 lab	39e503b67b
15:63336188 TPM1 AC>A	15	63336188	63336194	AC	A	TPM1	c.115-32del	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63336194del	(Likely) benign	1 lab	39e553b257
22:32881070 FBXO7 G>C	22	32881070	32881070	G	C	FBXO7	c.661G>C	NM_012179.3	NP_036311.3:p.(Ala221Pro)	NC_000022.10:g.32881070G>C	VUS	1 lab	39e75fa493
19:36364568 APLP1 A>C	19	36364568	36364568	A	C	APLP1	c.1009A>C	NM_001024807.2	NP_001019978.1:p.(Asn337His)	NC_000019.9:g.36364568A>C	VUS	1 lab	39e7a40e14
11:26669246 ANO3 C>G	11	26669246	26669246	C	G	ANO3	c.2612-10C>G	NM_001313726.1	NP_001300655.1:p.?	NC_000011.9:g.26669246C>G	(Likely) benign	1 lab	39ec05c759
18:47778172 CFAP53 A>G	18	47778172	47778172	A	G	CFAP53	c.474-18T>C	NM_145020.5	NP_659457.2:p.?	NC_000018.9:g.47778172A>G	(Likely) benign	1 lab	eb7f2fdd86
1:16464342 EPHA2 C>G	1	16464342	16464342	C	G	EPHA2	c.1312+6G>C	NM_004431.4	NP_004422.2:p.?	NC_000001.10:g.16464342C>G	(Likely) benign	1 lab	39ee64e358
X:84362630 SATL1 G>C	X	84362630	84362630	G	C	SATL1	c.1345C>G	NM_001012980.2	NP_001012998.2:p.(Gln449Glu)	NC_000023.10:g.84362630G>C	(Likely) benign	1 lab	39eed7bec4
17:78186068 SGSH C>T	17	78186068	78186068	C	T	SGSH	c.751G>A	NM_001352921.1	NP_001339850.1:p.(Gly251Arg)	NC_000017.10:g.78186068C>T	VUS	1 lab	39ef23f534
10:99498383 ZFYVE27 A>G	10	99498383	99498383	A	G	ZFYVE27	c.149A>G	NM_144588.6	NP_653189.3:p.(Tyr50Cys)	NC_000010.10:g.99498383A>G	VUS	1 lab	39ef3ef736
19:7607979 PNPLA6 GACCCCT>G	19	7607979	7607985	GACCCCT	G	PNPLA6	c.1608+10_1608+15del	NM_001166114.2	NP_001159586.1:p.?	NC_000019.9:g.7607980_7607985del	VUS	1 lab	39effb72d3
X:49458708 PAGE1 C>T	X	49458708	49458708	C	T	PAGE1	c.160G>A	NM_003785.3	NP_003776.2:p.(Ala54Thr)	NC_000023.10:g.49458708C>T	VUS	1 lab	39f0087499
3:142224125 ATR A>G	3	142224125	142224125	A	G	ATR	c.5052T>C	NM_001184.3	NP_001175.2:p.(His1684=)	NC_000003.11:g.142224125A>G	(Likely) benign	1 lab	39f114d5fc
10:69366624 CTNNA3 G>C	10	69366624	69366624	G	C	CTNNA3	c.283C>G	NM_013266.4	NP_037398.2:p.(Arg95Gly)	NC_000010.10:g.69366624G>C	VUS	1 lab	eb81a52254
21:32638539 TIAM1 C>G	21	32638539	32638539	C	G	TIAM1	c.750G>C	NM_003253.3	NP_003244.2:p.(Gly250=)	NC_000021.8:g.32638539C>G	(Likely) benign	1 lab	39f150b9d0
X:15509294 PIR G>A	X	15509294	15509294	G	A	PIR	c.87C>T	NM_003662.3	NP_003653.1:p.(Gly29=)	NC_000023.10:g.15509294G>A	(Likely) benign	1 lab	39f1954146
2:98920215 VWA3B G>A	2	98920215	98920215	G	A	VWA3B	c.3471G>A	NM_144992.4	NP_659429.4:p.(Ala1157=)	NC_000002.11:g.98920215G>A	(Likely) benign	1 lab	39f3f9e6a7
5:131951692 RAD50 T>C	5	131951692	131951692	T	C	RAD50	c.3037-3T>C	NM_005732.3	NP_005723.2:p.?	NC_000005.9:g.131951692T>C	(Likely) benign	1 lab	39f531377e
1:201334319 TNNT2 G>A	1	201334319	201334319	G	A	TNNT2	c.381C>T	NM_001001430.1	NP_001001430.1:p.(Ile127=)	NC_000001.10:g.201334319G>A	VUS	1 lab	39f6bdc14a
18:56936567 RAX C>T	18	56936567	56936567	C	T	RAX	c.710G>A	NM_013435.2	NP_038463.2:p.(Gly237Asp)	NC_000018.9:g.56936567C>T	(Likely) benign	1 lab	39f6f41e24
X:71787825 HDAC8 C>A	X	71787825	71787825	C	A	HDAC8	c.351G>T	NM_001166419.1	NP_001159891.1:p.(Gly117=)	NC_000023.10:g.71787825C>A	(Likely) benign	1 lab	39f84d0198
19:38987490 RYR1 G>GT	19	38987490	38987491	G	GT	RYR1	c.6797-10_6797-9insT	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38987490_38987491insT	(Likely) benign	1 lab	39f859554c
17:38978581 KRT10 C>T	17	38978581	38978581	C	T	KRT10	c.257G>A	NM_000421.3	NP_000412.3:p.(Arg86His)	NC_000017.10:g.38978581C>T	(Likely) benign	1 lab	39f8cc5b6f
1:43201708 CLDN19 G>A	1	43201708	43201708	G	A	CLDN19	c.474-7C>T	NM_001123395.1	NP_001116867.1:p.?	NC_000001.10:g.43201708G>A	(Likely) benign	1 lab	39f91facf7
15:79237291 CTSH C>T	15	79237291	79237291	C	T	CTSH	c.33G>A	NM_004390.4	NP_004381.2:p.(Gly11=)	NC_000015.9:g.79237291C>T	(Likely) benign	1 lab	39f9389ba3
X:29301205 IL1RAPL1 A>G	X	29301205	29301205	A	G	IL1RAPL1	c.233A>G	NM_014271.3	NP_055086.1:p.(Lys78Arg)	NC_000023.10:g.29301205A>G	VUS	1 lab	39f9aa2bcd
15:29561868 NSMCE3 C>G	15	29561868	29561868	C	G	NSMCE3	c.42G>C	NM_138704.3	NP_619649.1:p.(Gln14His)	NC_000015.9:g.29561868C>G	VUS	1 lab	39fa6292a6
1:12012770 PLOD1 T>C	1	12012770	12012770	T	C	PLOD1	c.698T>C	NM_001316320.1	NP_001303249.1:p.(Ile233Thr)	NC_000001.10:g.12012770T>C	VUS	1 lab	39fa8f42f0
15:42052685 MGA A>G	15	42052685	42052685	A	G	MGA	c.7356A>G	NM_001164273.1	NP_001157745.1:p.(Leu2452=)	NC_000015.9:g.42052685A>G	(Likely) benign	1 lab	39faf91101
5:37185125 CPLANE1 C>T	5	37185125	37185125	C	T	CPLANE1	c.4246G>A	NM_023073.3	NP_075561.3:p.(Val1416Met)	NC_000005.9:g.37185125C>T	VUS	1 lab	39fecf1f4b
21:46951772 SLC19A1 C>G	21	46951772	46951772	C	G	SLC19A1	c.480G>C	NM_194255.3	NP_919231.1:p.(Val160=)	NC_000021.8:g.46951772C>G	(Likely) benign	1 lab	39ff641c6c
1:97771790 DPYD C>CA	1	97771790	97771797	C	CA	DPYD	c.2121dup	NM_000110.3	NP_000101.2:p.(Ala708CysfsTer9)	NC_000001.10:g.97771797dup	(Likely) pathogenic	1 lab	39ff9ae564
8:31030535 WRN C>T	8	31030535	31030535	C	T	WRN	c.4216C>T	NM_000553.4	NP_000544.2:p.(Arg1406Ter)	NC_000008.10:g.31030535C>T	VUS	1 lab	3a0029c0d0
10:55582547 PCDH15 T>C	10	55582547	55582547	T	C	PCDH15	c.4960A>G	NM_001142763.1	NP_001136235.1:p.(Ile1654Val)	NC_000010.10:g.55582547T>C	(Likely) benign	1 lab	3a01d245e2
1:22084201 USP48 A>G	1	22084201	22084201	A	G	USP48	c.210T>C	NM_032236.7	NP_115612.4:p.(Asn70=)	NC_000001.10:g.22084201A>G	(Likely) benign	1 lab	3a021199df
21:47410943 COL6A1 G>A	21	47410943	47410943	G	A	COL6A1	c.1107G>A	NM_001848.2	NP_001839.2:p.(Leu369=)	NC_000021.8:g.47410943G>A	(Likely) benign	1 lab	3a021a6b6e
X:17745634 NHS G>A	X	17745634	17745634	G	A	NHS	c.3408G>A	NM_001291867.1	NP_001278796.1:p.(Thr1136=)	NC_000023.10:g.17745634G>A	(Likely) benign	1 lab	3a023f8b51
2:26689646 OTOF C>A	2	26689646	26689646	C	A	OTOF	c.4436G>T	NM_194248.2	NP_919224.1:p.(Gly1479Val)	NC_000002.11:g.26689646C>A	VUS	1 lab	3a0495de16
5:155935664 SGCD C>T	5	155935664	155935664	C	T	SGCD	c.246C>T	NM_000337.5	NP_000328.2:p.(Asp82=)	NC_000005.9:g.155935664C>T	(Likely) benign	1 lab	3a062f7403
11:62291669 AHNAK A>C	11	62291669	62291669	A	C	AHNAK	c.10220T>G	NM_001620.3	NP_001611.1:p.(Phe3407Cys)	NC_000011.9:g.62291669A>C	VUS	1 lab	eb8b72a984
4:169837129 PALLD C>T	4	169837129	169837129	C	T	PALLD	c.2801C>T	NM_001166108.2	NP_001159580.1:p.(Pro934Leu)	NC_000004.11:g.169837129C>T	VUS	1 lab	3a09b294c0
1:154995601 DCST2 G>A	1	154995601	154995601	G	A	DCST2	c.2097C>T	NM_144622.3	NP_653223.2:p.(Ser699=)	NC_000001.10:g.154995601G>A	(Likely) benign	1 lab	3a0b5500b9
11:108100077 ATM A>G	11	108100077	108100077	A	G	ATM	c.331+27A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108100077A>G	(Likely) benign	1 lab	3a0e4db6e2
2:27282164 AGBL5 A>G	2	27282164	27282164	A	G	AGBL5	c.1981A>G	NM_021831.5	NP_068603.4:p.(Met661Val)	NC_000002.11:g.27282164A>G	(Likely) benign	1 lab	3a0f195cd4
10:16990479 CUBN G>A	10	16990479	16990479	G	A	CUBN	c.5207C>T	NM_001081.3	NP_001072.2:p.(Ser1736Leu)	NC_000010.10:g.16990479G>A	(Likely) benign	1 lab	3a108b9c33
X:128927070 SASH3 C>A	X	128927070	128927070	C	A	SASH3	c.907C>A	NM_018990.3	NP_061863.1:p.(Arg303=)	NC_000023.10:g.128927070C>A	(Likely) benign	1 lab	3a108bfabe
1:236906268 ACTN2 C>T	1	236906268	236906268	C	T	ACTN2	c.1180C>T	NM_001103.3	NP_001094.1:p.(Arg394Trp)	NC_000001.10:g.236906268C>T	VUS	1 lab	3a126777be
6:31903781 C2 G>A	6	31903781	31903781	G	A	C2	c.844G>A	NM_001282458.1	NP_001269387.1:p.(Asp282Asn)	NC_000006.11:g.31903781G>A	(Likely) benign	1 lab	3a12e22b88
1:201060850 CACNA1S GA>G	1	201060850	201060851	GA	G	CACNA1S	c.611del	NM_000069.3	NP_000060.2:p.(Leu204ProfsTer130)	NC_000001.10:g.201060851del	VUS	1 lab	3a12fc2a76
11:43923248 ALKBH3 AT>A	11	43923248	43923251	AT	A	ALKBH3	c.645del	NM_139178.4	NP_631917.1:p.(Phe215LeufsTer3)	NC_000011.9:g.43923251del	VUS	1 lab	3a1392494e
3:123135097 ADCY5 C>T	3	123135097	123135097	C	T	ADCY5	c.18G>A	NM_001199642.1	NP_001186571.1:p.(Glu6=)	NC_000003.11:g.123135097C>T	(Likely) benign	1 lab	3a160eb13b
19:8997119 MUC16 T>C	19	8997119	8997119	T	C	MUC16	c.41077A>G	NM_024690.2	NP_078966.2:p.(Arg13693Gly)	NC_000019.9:g.8997119T>C	VUS	1 lab	3a174743e4
14:105411090 AHNAK2 C>T	14	105411090	105411090	C	T	AHNAK2	c.10698G>A	NM_138420.3	NP_612429.2:p.(Thr3566=)	NC_000014.8:g.105411090C>T	(Likely) benign	1 lab	3a184113b8
1:228345911 GJC2 G>T	1	228345911	228345911	G	T	GJC2	c.452G>T	NM_020435.3	NP_065168.2:p.(Gly151Val)	NC_000001.10:g.228345911G>T	(Likely) benign	1 lab	3a18efcf9c
10:102506063 PAX2 G>A	10	102506063	102506063	G	A	PAX2	c.43+3G>A	NM_003988.4	NP_003979.2:p.?	NC_000010.10:g.102506063G>A	(Likely) benign	1 lab	3a1abf8ed2
11:6643612 DCHS1 G>A	11	6643612	6643612	G	A	DCHS1				NC_000011.9:g.6643612G>A	VUS	1 lab	3a1ba12247
19:9922067 FBXL12 G>A	19	9922067	9922067	G	A	FBXL12	c.486C>T	NM_017703.2	NP_060173.1:p.(Pro162=)	NC_000019.9:g.9922067G>A	(Likely) benign	1 lab	3a1dfc7d22
16:3712106 TRAP1 C>A	16	3712106	3712106	C	A	TRAP1	c.1822G>T	NM_016292.2	NP_057376.2:p.(Ala608Ser)	NC_000016.9:g.3712106C>A	VUS	1 lab	3a200a7f7f
12:49580222 TUBA1A G>A	12	49580222	49580222	G	A	TUBA1A	c.246C>T	NM_001270399.1	NP_001257328.1:p.(Thr82=)	NC_000012.11:g.49580222G>A	(Likely) benign	1 lab	3a220d4235
16:70305725 AARS1 A>G	16	70305725	70305725	A	G	AARS1	c.630T>C	NM_001605.2	NP_001596.2:p.(Asn210=)	NC_000016.9:g.70305725A>G	(Likely) benign	1 lab	3a226571a2
17:39914998 JUP T>A	17	39914998	39914998	T	A	JUP	c.1622A>T	NM_021991.2	NP_068831.1:p.(His541Leu)	NC_000017.10:g.39914998T>A	(Likely) benign	1 lab	3a22b41c72
10:69881507 MYPN G>A	10	69881507	69881507	G	A	MYPN	c.312G>A	NM_032578.3	NP_115967.2:p.(Gln104=)	NC_000010.10:g.69881507G>A	(Likely) benign	1 lab	3a2491eb8d
12:22059225 ABCC9 A>G	12	22059225	22059225	A	G	ABCC9	c.1456-3T>C	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22059225A>G	(Likely) benign	1 lab	3a24b02b47
3:4767262 ITPR1 T>C	3	4767262	4767262	T	C	ITPR1	c.5124T>C	NM_001168272.2	NP_001161744.1:p.(Thr1708=)	NC_000003.11:g.4767262T>C	(Likely) benign	1 lab	eb8be6e410
2:47639682 MSH2 C>T	2	47639682	47639682	C	T	MSH2	c.775C>T	NM_000251.2	NP_000242.1:p.(Pro259Ser)	NC_000002.11:g.47639682C>T	VUS	1 lab	3a28be2030
13:32905148 BRCA2 A>G	13	32905148	32905148	A	G	BRCA2	c.774A>G	NM_000059.3	NP_000050.2:p.(Gln258=)	NC_000013.10:g.32905148A>G	(Likely) benign	1 lab	3a2b6ce6bf
12:65115468 GNS A>G	12	65115468	65115468	A	G	GNS	c.1326T>C	NM_002076.3	NP_002067.1:p.(Cys442=)	NC_000012.11:g.65115468A>G	(Likely) benign	1 lab	3a2baf7f6a
6:33410772 SYNGAP1 C>G	6	33410772	33410772	C	G	SYNGAP1	c.2443C>G	NM_006772.2	NP_006763.2:p.(Arg815Gly)	NC_000006.11:g.33410772C>G	VUS	1 lab	3a2ceafe88
3:188327461 LPP C>T	3	188327461	188327461	C	T	LPP	c.942C>T	NM_005578.5	NP_005569.1:p.(Asp314=)	NC_000003.11:g.188327461C>T	(Likely) benign	1 lab	eb8d0606ad
17:40729692 PSMC3IP G>A	17	40729692	40729692	G	A	PSMC3IP	c.13C>T	NM_016556.3	NP_057640.1:p.(Arg5Trp)	NC_000017.10:g.40729692G>A	VUS	1 lab	3a2eb44e70
6:36653529 CDKN1A T>C	6	36653529	36653529	T	C	CDKN1A	c.549T>C	NM_001291549.1	NP_001278478.1:p.(Asp183=)	NC_000006.11:g.36653529T>C	(Likely) benign	1 lab	3a3034db74
8:118825134 EXT1 CCT>C	8	118825134	118825137	CCT	C	EXT1	c.1697_1698del	NM_000127.3	NP_000118.2:p.(Glu566GlyfsTer21)	NC_000008.10:g.118825136_118825137del	(Likely) pathogenic	1 lab	3a30bbd4d2
19:2111275 AP3D1 G>A	19	2111275	2111275	G	A	AP3D1	c.2985+9C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2111275G>A	(Likely) benign	1 lab	3a31f26823
15:48788425 FBN1 GCAAAGT>G	15	48788425	48788434	GCAAAGT	G	FBN1	c.2294-9_2294-4del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48788429_48788434del	(Likely) benign	1 lab	eb90668482
X:12724971 FRMPD4 T>C	X	12724971	12724971	T	C	FRMPD4	c.1224T>C	NM_014728.3	NP_055543.2:p.(His408=)	NC_000023.10:g.12724971T>C	(Likely) benign	1 lab	3a336c007c
2:179636086 TTN GC>G	2	179636086	179636088	GC	G	TTN	c.7967del	NM_001267550.2	NP_001254479.2:p.(Gly2656AlafsTer6)	NC_000002.11:g.179636088del	(Likely) pathogenic	1 lab	3a3555de46
17:76778297 CYTH1 C>G	17	76778297	76778297	C	G	CYTH1	c.9G>C	NM_004762.3	NP_004753.1:p.(Glu3Asp)	NC_000017.10:g.76778297C>G	(Likely) benign	1 lab	3a35fd0e2f
19:50784921 MYH14 G>A	19	50784921	50784921	G	A	MYH14	c.4361G>A	NM_001145809.1	NP_001139281.1:p.(Arg1454Gln)	NC_000019.9:g.50784921G>A	VUS	1 lab	3a451f40d6
9:130221335 LRSAM1 GCTGACTGCCCT>G	9	130221335	130221347	GCTGACTGCCCT	G	LRSAM1	c.308_318del	NM_001005373.4	NP_001005373.1:p.(Leu103ProfsTer29)	NC_000009.11:g.130221337_130221347del	(Likely) pathogenic	1 lab	3a3645fcc7
9:117852864 TNC C>A	9	117852864	117852864	C	A	TNC	c.434G>T	NM_002160.3	NP_002151.2:p.(Gly145Val)	NC_000009.11:g.117852864C>A	(Likely) benign	1 lab	3a3648b9c2
16:3900872 CREBBP C>T	16	3900872	3900872	C	T	CREBBP	c.224G>A	NM_004380.2	NP_004371.2:p.(Arg75Gln)	NC_000016.9:g.3900872C>T	VUS	1 lab	3a36e02d2f
15:25616394 UBE3A C>T	15	25616394	25616394	C	T	UBE3A	c.867G>A	NM_001354543.1	NP_001341472.1:p.(Ala289=)	NC_000015.9:g.25616394C>T	(Likely) benign	1 lab	3a37ee12bd
1:116310986 CASQ2 C>T	1	116310986	116310986	C	T	CASQ2	c.177G>A	NM_001232.3	NP_001223.2:p.(Pro59=)	NC_000001.10:g.116310986C>T	(Likely) benign	1 lab	3a3cdf07f0
9:84547798 SPATA31D4 C>T	9	84547798	84547798	C	T	SPATA31D4	c.2722C>T	NM_001145197.1	NP_001138669.1:p.(His908Tyr)	NC_000009.11:g.84547798C>T	VUS	1 lab	3a3e9f75e7
5:13830326 DNAH5 C>T	5	13830326	13830326	C	T	DNAH5	c.6062-4G>A	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13830326C>T	(Likely) benign	1 lab	3a44ac8ef7
2:8930170 KIDINS220 G>A	2	8930170	8930170	G	A	KIDINS220	c.1461C>T	NM_001348738.1	NP_001335667.1:p.(Ala487=)	NC_000002.11:g.8930170G>A	(Likely) benign	1 lab	3a44cd6834
16:53639404 RPGRIP1L T>C	16	53639404	53639404	T	C	RPGRIP1L	c.3824A>G	NM_015272.4	NP_056087.2:p.(Gln1275Arg)	NC_000016.9:g.53639404T>C	(Likely) benign	1 lab	3a455866d6
12:23757350 SOX5 T>C	12	23757350	23757350	T	C	SOX5	c.1096A>G	NM_152989.4	NP_694534.1:p.(Ser366Gly)	NC_000012.11:g.23757350T>C	VUS	1 lab	3a47766dea
16:67976876 LCAT A>G	16	67976876	67976876	A	G	LCAT	c.315T>C	NM_000229.1	NP_000220.1:p.(Val105=)	NC_000016.9:g.67976876A>G	(Likely) benign	1 lab	3a487248df
17:29684285 NF1 A>G	17	29684285	29684285	A	G	NF1	c.7807-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684285A>G	(Likely) pathogenic	1 lab	3a48fdef7e
15:43820882 MAP1A A>G	15	43820882	43820882	A	G	MAP1A	c.7211A>G	NM_002373.6	NP_002364.5:p.(Asp2404Gly)	NC_000015.9:g.43820882A>G	VUS	1 lab	3a496a5b58
7:39991118 CDK13 A>T	7	39991118	39991118	A	T	CDK13	c.878A>T	NM_003718.5	NP_003709.3:p.(Tyr293Phe)	NC_000007.13:g.39991118A>T	VUS	1 lab	eb91e23393
1:236201523 NID1 G>A	1	236201523	236201523	G	A	NID1	c.1166C>T	NM_002508.2	NP_002499.2:p.(Thr389Met)	NC_000001.10:g.236201523G>A	VUS	1 lab	3a4acfd4c0
X:13680941 TCEANC C>T	X	13680941	13680941	C	T	TCEANC	c.314C>T	NM_001297563.1	NP_001284492.1:p.(Pro105Leu)	NC_000023.10:g.13680941C>T	(Likely) benign	1 lab	3a4bf27fa4
1:207627786 CR2 G>A	1	207627786	207627786	G	A	CR2	c.23G>A	NM_001006658.2	NP_001006659.1:p.(Gly8Glu)	NC_000001.10:g.207627786G>A	(Likely) benign	1 lab	3a4c25474c
X:55041181 ALAS2 C>T	X	55041181	55041181	C	T	ALAS2	c.1397G>A	NM_001037968.3	NP_001033057.1:p.(Arg466Gln)	NC_000023.10:g.55041181C>T	(Likely) benign	1 lab	3a4d816963
2:27535311 MPV17 T>TG	2	27535311	27535313	T	TG	MPV17	c.375+49dup	NM_002437.5	NP_002428.1:p.?	NC_000002.11:g.27535313dup	(Likely) benign	1 lab	eb9355bbca
3:111760837 TMPRSS7 C>T	3	111760837	111760837	C	T	TMPRSS7	c.33C>T	NM_001042575.2	NP_001036040.2:p.(Pro11=)	NC_000003.11:g.111760837C>T	(Likely) benign	1 lab	3a523a67b4
14:23344922 LRP10 C>A	14	23344922	23344922	C	A	LRP10	c.765C>A	NM_014045.4	NP_054764.2:p.(Pro255=)	NC_000014.8:g.23344922C>A	(Likely) benign	1 lab	3a54e8e031
10:79603429 DLG5 G>A	10	79603429	79603429	G	A	DLG5	c.900C>T	NM_004747.3	NP_004738.3:p.(Asn300=)	NC_000010.10:g.79603429G>A	(Likely) benign	1 lab	3a55a052b9
22:21351197 LZTR1 C>T	22	21351197	21351197	C	T	LZTR1	c.2348C>T	NM_006767.4	NP_006758.2:p.(Thr783Met)	NC_000022.10:g.21351197C>T	VUS	1 lab	eb95a3b271
10:76780942 KAT6B T>C	10	76780942	76780942	T	C	KAT6B	c.2920T>C	NM_012330.3	NP_036462.2:p.(Cys974Arg)	NC_000010.10:g.76780942T>C	VUS	1 lab	3a5919f553
5:112676296 MCC C>T	5	112676296	112676296	C	T	MCC	c.547G>A	NM_001085377.1	NP_001078846.1:p.(Ala183Thr)	NC_000005.9:g.112676296C>T	(Likely) benign	1 lab	3a59949beb
17:40716917 COASY G>C	17	40716917	40716917	G	C	COASY	c.1237+1G>C	NM_025233.6	NP_079509.5:p.?	NC_000017.10:g.40716917G>C	VUS	1 lab	3a5a9e2525
20:10030262 ANKEF1 A>G	20	10030262	10030262	A	G	ANKEF1	c.1045A>G	NM_022096.6	NP_071379.3:p.(Arg349Gly)	NC_000020.10:g.10030262A>G	(Likely) benign	1 lab	3a5c0270f7
10:55698631 PCDH15 C>G	10	55698631	55698631	C	G	PCDH15				NC_000010.10:g.55698631C>G	VUS	1 lab	3a5ce66e7c
X:138713649 MCF2 T>TA	X	138713649	138713651	T	TA	MCF2	c.372dup	NM_001171876.1	NP_001165347.1:p.(Ser125Ter)	NC_000023.10:g.138713651dup	VUS	1 lab	3a5e81f455
15:89862202 POLG C>G	15	89862202	89862202	C	G	POLG	c.3233G>C	NM_002693.2	NP_002684.1:p.(Cys1078Ser)	NC_000015.9:g.89862202C>G	(Likely) benign	1 lab	3a5f2f8187
21:46924392 COL18A1 C>T	21	46924392	46924392	C	T	COL18A1	c.2790C>T	NM_130445.2	NP_569712.2:p.(Gly930=)	NC_000021.8:g.46924392C>T	(Likely) benign	1 lab	3a60ccb2b4
17:70117863 SOX9 GC>G	17	70117863	70117865	GC	G	SOX9	c.333del	NM_000346.4	NP_000337.1:p.(Phe112SerfsTer35)	NC_000017.10:g.70117865del	(Likely) pathogenic	1 lab	3a6175eba3
5:128797159 ADAMTS19 G>T	5	128797159	128797159	G	T	ADAMTS19	c.456G>T	NM_133638.4	NP_598377.4:p.(Pro152=)	NC_000005.9:g.128797159G>T	(Likely) benign	1 lab	3a619ff2fd
1:160261672 COPA G>A	1	160261672	160261672	G	A	COPA	c.3222C>T	NM_001098398.2	NP_001091868.1:p.(Ser1074=)	NC_000001.10:g.160261672G>A	(Likely) benign	1 lab	3a64c0613b
X:48688055 ERAS G>A	X	48688055	48688055	G	A	ERAS	c.522G>A	NM_181532.3	NP_853510.1:p.(Gly174=)	NC_000023.10:g.48688055G>A	(Likely) benign	1 lab	3a64d3a5c3
9:135786879 TSC1 CAG>C	9	135786879	135786883	CAG	C	TSC1	c.988_989del	NM_000368.5	NP_000359.1:p.(Leu330GlufsTer10)	NC_000009.11:g.135786882_135786883del	(Likely) pathogenic	1 lab	3a655cc4bf
2:238234338 COL6A3 T>C	2	238234338	238234338	T	C	COL6A3	c.9358A>G	NM_004369.3	NP_004360.2:p.(Thr3120Ala)	NC_000002.11:g.238234338T>C	VUS	1 lab	3a6894be0a
21:46311792 ITGB2 C>T	21	46311792	46311792	C	T	ITGB2	c.1344G>A	NM_000211.3	NP_000202.2:p.(Arg448=)	NC_000021.8:g.46311792C>T	(Likely) benign	1 lab	3a68cdb0e5
1:11292535 MTOR G>A	1	11292535	11292535	G	A	MTOR	c.2472C>T	NM_004958.3	NP_004949.1:p.(Ile824=)	NC_000001.10:g.11292535G>A	(Likely) benign	1 lab	3a690abd76
17:29652836 NF1 A>G	17	29652836	29652836	A	G	NF1	c.4773-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29652836A>G	(Likely) pathogenic	1 lab	3a6a4ac913
19:3977865 EEF2 G>A	19	3977865	3977865	G	A	EEF2	c.2019C>T	NM_001961.3	NP_001952.1:p.(Asn673=)	NC_000019.9:g.3977865G>A	(Likely) benign	1 lab	3a6c807475
17:29557864 NF1 A>G	17	29557864	29557864	A	G	NF1	c.3118A>G	NM_000267.3	NP_000258.1:p.(Lys1040Glu)	NC_000017.10:g.29557864A>G	VUS	1 lab	3a6de7f052
2:179418672 TTN TG>T	2	179418672	179418674	TG	T	TTN	c.89165del	NM_001267550.2	NP_001254479.2:p.(Pro29722HisfsTer20)	NC_000002.11:g.179418674del	(Likely) pathogenic	1 lab	3a6e35eadd
X:24383321 SUPT20HL1 A>AGCAGCAGCC	X	24383321	24383336	A	AGCAGCAGCC	SUPT20HL1	c.2529_2537dup	NM_001136234.2	NP_001129706.2:p.(Gln843_Gln845dup)	NC_000023.10:g.24383328_24383336dup	VUS	1 lab	3a6f161b85
8:6272353 MCPH1 A>G	8	6272353	6272353	A	G	MCPH1	c.182A>G	NM_024596.4	NP_078872.2:p.(Asp61Gly)	NC_000008.10:g.6272353A>G	VUS	1 lab	3a70ed5554
15:90774651 CIB1 A>G	15	90774651	90774651	A	G	CIB1	c.404T>C	NM_001277764.1	NP_001264693.1:p.(Leu135Pro)	NC_000015.9:g.90774651A>G	VUS	1 lab	3a7150b05e
1:210856983 KCNH1 G>A	1	210856983	210856983	G	A	KCNH1	c.2610C>T	NM_172362.2	NP_758872.1:p.(Gly870=)	NC_000001.10:g.210856983G>A	VUS	1 lab	3a7211a642
19:50812332 MYH14 G>A	19	50812332	50812332	G	A	MYH14	c.5858G>A	NM_001145809.1	NP_001139281.1:p.(Arg1953Gln)	NC_000019.9:g.50812332G>A	VUS	1 lab	3a7212b8d6
1:113456757 SLC16A1 T>C	1	113456757	113456757	T	C	SLC16A1	c.1259A>G	NM_001166496.1	NP_001159968.1:p.(Lys420Arg)	NC_000001.10:g.113456757T>C	VUS	1 lab	3a73320bb8
X:129215293 ELF4 G>A	X	129215293	129215293	G	A	ELF4	c.12C>T	NM_001421.3	NP_001412.1:p.(Thr4=)	NC_000023.10:g.129215293G>A	(Likely) benign	1 lab	3a73351e61
22:17672671 ADA2 G>A	22	17672671	17672671	G	A	ADA2	c.783C>T	NM_001282226.1	NP_001269155.1:p.(Asp261=)	NC_000022.10:g.17672671G>A	(Likely) benign	1 lab	3a755aee97
1:1290066 MXRA8 G>C	1	1290066	1290066	G	C	MXRA8	c.918C>G	NM_001282583.1	NP_001269512.1:p.(Gly306=)	NC_000001.10:g.1290066G>C	(Likely) benign	1 lab	3a7560996c
X:37587601 XK G>A	X	37587601	37587601	G	A	XK	c.1221G>A	NM_021083.4	NP_066569.1:p.(Pro407=)	NC_000023.10:g.37587601G>A	(Likely) benign	1 lab	3a762cf80b
9:131678470 LRRC8A C>T	9	131678470	131678470	C	T	LRRC8A	c.2253C>T	NM_001127244.1	NP_001120716.1:p.(Gly751=)	NC_000009.11:g.131678470C>T	(Likely) benign	1 lab	3a76a1a3d4
12:112654638 HECTD4 T>C	12	112654638	112654638	T	C	HECTD4	c.6922A>G	NM_001109662.3	NP_001103132.3:p.(Thr2308Ala)	NC_000012.11:g.112654638T>C	VUS	1 lab	3a76ab8898
X:106845965 FRMPD3 C>T	X	106845965	106845965	C	T	FRMPD3	c.4795C>T	NM_032428.2	NP_115804.1:p.(Arg1599Cys)	NC_000023.10:g.106845965C>T	VUS	1 lab	3a78b7dc9e
4:114199031 ANK2 A>C	4	114199031	114199031	A	C	ANK2	c.1722A>C	NM_001148.4	NP_001139.3:p.(Gly574=)	NC_000004.11:g.114199031A>C	(Likely) benign	1 lab	3a79fc41b2
14:24572991 PCK2 G>A	14	24572991	24572991	G	A	PCK2	c.1339G>A	NM_001308054.1	NP_001294983.1:p.(Ala447Thr)	NC_000014.8:g.24572991G>A	(Likely) benign	1 lab	3a7b212f5c
18:21481208 LAMA3 G>A	18	21481208	21481208	G	A	LAMA3	c.6122G>A	NM_198129.2	NP_937762.2:p.(Arg2041Gln)	NC_000018.9:g.21481208G>A	VUS	1 lab	3a7bc43749
3:155571417 SLC33A1 G>A	3	155571417	155571417	G	A	SLC33A1	c.370C>T	NM_004733.3	NP_004724.1:p.(Leu124Phe)	NC_000003.11:g.155571417G>A	VUS	1 lab	3a7c3be6bb
16:14645891 PARN C>T	16	14645891	14645891	C	T	PARN	c.1467G>A	NM_002582.4	NP_002573.1:p.(Glu489=)	NC_000016.9:g.14645891C>T	(Likely) benign	1 lab	3a7db79910
9:13125301 MPDZ G>C	9	13125301	13125301	G	C	MPDZ	c.4721C>G	NM_001330637.1	NP_001317566.1:p.(Ala1574Gly)	NC_000009.11:g.13125301G>C	(Likely) benign	1 lab	3a7eb446ea
17:29556219 NF1 C>CTA	17	29556219	29556223	C	CTA	NF1	c.2589_2590dup	NM_000267.3	NP_000258.1:p.(Ser864IlefsTer15)	NC_000017.10:g.29556222_29556223dup	(Likely) pathogenic	1 lab	3a7f700e6c
X:47030645 RBM10 C>T	X	47030645	47030645	C	T	RBM10	c.615C>T	NM_001204468.1	NP_001191397.1:p.(Ala205=)	NC_000023.10:g.47030645C>T	(Likely) benign	1 lab	3a7fad78da
13:49039211 RB1 A>T	13	49039211	49039211	A	T	RB1	c.2289A>T	NM_000321.2	NP_000312.2:p.(Arg763Ser)	NC_000013.10:g.49039211A>T	(Likely) benign	1 lab	3a807b8991
X:77267042 ATP7A T>C	X	77267042	77267042	T	C	ATP7A	c.2043T>C	NM_000052.6	NP_000043.4:p.(Leu681=)	NC_000023.10:g.77267042T>C	(Likely) benign	1 lab	3a80c69e0a
4:154510043 TMEM131L A>G	4	154510043	154510043	A	G	TMEM131L	c.1551A>G	NM_015196.3	NP_056011.3:p.(Gly517=)	NC_000004.11:g.154510043A>G	(Likely) benign	1 lab	3a81713337
14:76184219 TTLL5 A>G	14	76184219	76184219	A	G	TTLL5	c.756A>G	NM_015072.4	NP_055887.3:p.(Arg252=)	NC_000014.8:g.76184219A>G	VUS	1 lab	3a81f4de06
1:207934776 CD46 G>A	1	207934776	207934776	G	A	CD46	c.658G>A	NM_002389.4	NP_002380.3:p.(Ala220Thr)	NC_000001.10:g.207934776G>A	(Likely) benign	1 lab	3a827d6370
16:2114333 TSC2 CA>C	16	2114333	2114334	CA	C	TSC2	c.1505del	NM_000548.5	NP_000539.2:p.(His502ProfsTer33)	NC_000016.9:g.2114334del	(Likely) pathogenic	1 lab	3a8289e58b
7:138601515 KIAA1549 C>T	7	138601515	138601515	C	T	KIAA1549	c.2857G>A	NM_001164665.1	NP_001158137.1:p.(Asp953Asn)	NC_000007.13:g.138601515C>T	VUS	1 lab	3a82cce4ca
7:103234458 RELN A>AT	7	103234458	103234467	A	AT	RELN	c.3712-130dup	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103234467dup	(Likely) benign	1 lab	3a82cf8dcc
15:51763452 DMXL2 C>T	15	51763452	51763452	C	T	DMXL2	c.7360G>A	NM_001174116.3	NP_001167587.1:p.(Glu2454Lys)	NC_000015.9:g.51763452C>T	VUS	1 lab	eb99e5a6ec
1:197057486 ASPM C>T	1	197057486	197057486	C	T	ASPM	c.10061G>A	NM_018136.4	NP_060606.3:p.(Arg3354Gln)	NC_000001.10:g.197057486C>T	(Likely) benign	1 lab	3a8331774a
7:103243756 RELN T>G	7	103243756	103243756	T	G	RELN	c.3328A>C	NM_005045.3	NP_005036.2:p.(Ser1110Arg)	NC_000007.13:g.103243756T>G	VUS	1 lab	3a8393d36d
X:114426943 RBMXL3 G>A	X	114426943	114426943	G	A	RBMXL3	c.2939G>A	NM_001145346.1	NP_001138818.1:p.(Gly980Glu)	NC_000023.10:g.114426943G>A	VUS	1 lab	3a83a337d6
X:134988207 SAGE1 G>A	X	134988207	134988207	G	A	SAGE1	c.479G>A	NM_018666.2	NP_061136.2:p.(Arg160His)	NC_000023.10:g.134988207G>A	(Likely) benign	1 lab	3a844c6af8
1:169697375 SELE G>C	1	169697375	169697375	G	C	SELE	c.1103C>G	NM_000450.2	NP_000441.2:p.(Thr368Arg)	NC_000001.10:g.169697375G>C	VUS	1 lab	3a84eb4583
X:152913587 DUSP9 G>C	X	152913587	152913587	G	C	DUSP9	c.180G>C	NM_001318503.2	NP_001305432.1:p.(Ser60=)	NC_000023.10:g.152913587G>C	(Likely) benign	1 lab	3a8688b3b1
20:55750023 BMP7 G>A	20	55750023	55750023	G	A	BMP7	c.999C>T	NM_001719.2	NP_001710.1:p.(His333=)	NC_000020.10:g.55750023G>A	(Likely) benign	1 lab	3a87f788f1
21:45714341 AIRE G>A	21	45714341	45714341	G	A	AIRE				NC_000021.8:g.45714341G>A	(Likely) benign	1 lab	3a891354a3
16:2134318 TSC2 G>A	16	2134318	2134318	G	A	TSC2	c.4095G>A	NM_000548.3	NP_000539.2:p.(Ser1365=)	NC_000016.9:g.2134318G>A	(Likely) benign	1 lab	3a8929405a
X:48935544 WDR45 C>T	X	48935544	48935544	C	T	WDR45	c.82G>A	NM_007075.3	NP_009006.2:p.(Gly28Ser)	NC_000023.10:g.48935544C>T	VUS	1 lab	3a897e6a1e
5:82837298 VCAN T>C	5	82837298	82837298	T	C	VCAN	c.8476T>C	NM_004385.4	NP_004376.2:p.(Ser2826Pro)	NC_000005.9:g.82837298T>C	(Likely) benign	1 lab	3a898cf31e
18:28660242 DSC2 G>T	18	28660242	28660242	G	T	DSC2	c.1340C>A	NM_004949.5	NP_004940.1:p.(Ala447Asp)	NC_000018.9:g.28660242G>T	VUS	1 lab	eba6bbac89
19:7710135 STXBP2 G>A	19	7710135	7710135	G	A	STXBP2	c.1332G>A	NM_001272034.1	NP_001258963.1:p.(Ala444=)	NC_000019.9:g.7710135G>A	(Likely) benign	1 lab	3a8a1b78c0
11:65387301 PCNX3 G>A	11	65387301	65387301	G	A	PCNX3	c.1906G>A	NM_032223.3	NP_115599.2:p.(Ala636Thr)	NC_000011.9:g.65387301G>A	(Likely) benign	1 lab	3a8c166731
10:103990519 PITX3 C>T	10	103990519	103990519	C	T	PITX3	c.661G>A	NM_005029.3	NP_005020.1:p.(Gly221Ser)	NC_000010.10:g.103990519C>T	(Likely) benign	1 lab	3a8eb74189
17:41201198 BRCA1 C>T	17	41201198	41201198	C	T	BRCA1	c.5346G>A	NM_007294.4	NP_009225.1:p.(Trp1782Ter)	NC_000017.10:g.41201198C>T	(Likely) pathogenic	1 lab	eb9c7e9367
11:1277423 MUC5B C>T	11	1277423	1277423	C	T	MUC5B	c.16104C>T	NM_002458.2	NP_002449.2:p.(Cys5368=)	NC_000011.9:g.1277423C>T	(Likely) benign	1 lab	3a8f15adb4
6:32811675 PSMB8 G>A	6	32811675	32811675	G	A	PSMB8	c.99C>T	NM_148919.4	NP_683720.2:p.(Tyr33=)	NC_000006.11:g.32811675G>A	(Likely) benign	1 lab	3a8f524f95
6:110081522 FIG4 C>A	6	110081522	110081522	C	A	FIG4	c.1207C>A	NM_014845.5	NP_055660.1:p.(Gln403Lys)	NC_000006.11:g.110081522C>A	VUS	1 lab	3a90f94ed3
X:41332770 NYX T>C	X	41332770	41332770	T	C	NYX	c.64T>C	NM_022567.2	NP_072089.1:p.(Trp22Arg)	NC_000023.10:g.41332770T>C	VUS	1 lab	36bd2a78ac
22:20783949 SCARF2 G>A	22	20783949	20783949	G	A	SCARF2	c.1307-9C>T	NM_153334.6	NP_699165.3:p.?	NC_000022.10:g.20783949G>A	(Likely) benign	1 lab	3a92191a23
13:39438408 FREM2 A>G	13	39438408	39438408	A	G	FREM2	c.7652-4A>G	NM_207361.5	NP_997244.4:p.?	NC_000013.10:g.39438408A>G	(Likely) benign	1 lab	3a93ce77ae
16:56530910 BBS2 C>T	16	56530910	56530910	C	T	BBS2	c.1879G>A	NM_031885.3	NP_114091.3:p.(Gly627Arg)	NC_000016.9:g.56530910C>T	VUS	1 lab	3a95972134
18:10758096 PIEZO2 C>T	18	10758096	10758096	C	T	PIEZO2	c.3719G>A	NM_022068.3	NP_071351.2:p.(Arg1240Gln)	NC_000018.9:g.10758096C>T	VUS	1 lab	3a963cb080
9:139391963 NOTCH1 G>A	9	139391963	139391963	G	A	NOTCH1	c.6228C>T	NM_017617.5	NP_060087.3:p.(Thr2076=)	NC_000009.11:g.139391963G>A	(Likely) benign	1 lab	3a98a6f019
13:48575310 SUCLA2 C>T	13	48575310	48575310	C	T	SUCLA2	c.90+6G>A	NM_003850.2	NP_003841.1:p.?	NC_000013.10:g.48575310C>T	(Likely) benign	1 lab	3aa0e94445
X:148796185 MAGEA11 A>G	X	148796185	148796185	A	G	MAGEA11	c.141A>G	NM_005366.5	NP_005357.2:p.(Arg47=)	NC_000023.10:g.148796185A>G	(Likely) benign	1 lab	3aa1d3bbf7
11:121393680 SORL1 T>TGGA	11	121393680	121393684	T	TGGA	SORL1	c.1580_1582dup	NM_003105.5	NP_003096.1:p.(Gly527dup)	NC_000011.9:g.121393682_121393684dup	VUS	1 lab	3aa206d510
3:119886457 GPR156 G>A	3	119886457	119886457	G	A	GPR156	c.1867C>T	NM_153002.2	NP_694547.2:p.(Arg623Trp)	NC_000003.11:g.119886457G>A	VUS	1 lab	3aa2337b9d
10:26315414 MYO3A G>A	10	26315414	26315414	G	A	MYO3A	c.906G>A	NM_017433.5	NP_059129.3:p.(Thr302=)	NC_000010.10:g.26315414G>A	(Likely) benign	1 lab	3aa25d04ad
15:68500645 CLN6 T>C	15	68500645	68500645	T	C	CLN6	c.769A>G	NM_017882.2	NP_060352.1:p.(Ser257Gly)	NC_000015.9:g.68500645T>C	(Likely) benign	1 lab	3aa31a6c31
12:49420154 KMT2D A>C	12	49420154	49420154	A	C	KMT2D	c.15595T>G	NM_003482.3	NP_003473.3:p.(Phe5199Val)	NC_000012.11:g.49420154A>C	VUS	1 lab	3aa4e01348
13:32745296 FRY A>T	13	32745296	32745296	A	T	FRY	c.2040A>T	NM_023037.2	NP_075463.2:p.(Thr680=)	NC_000013.10:g.32745296A>T	(Likely) benign	1 lab	3aa98a0ab4
7:70233053 AUTS2 G>A	7	70233053	70233053	G	A	AUTS2	c.1733G>A	NM_001127231.2	NP_001120703.1:p.(Ser578Asn)	NC_000007.13:g.70233053G>A	(Likely) benign	1 lab	3aa9a2c3d7
19:4714306 DPP9 C>T	19	4714306	4714306	C	T	DPP9	c.100G>A	NM_139159.4	NP_631898.3:p.(Gly34Arg)	NC_000019.9:g.4714306C>T	(Likely) benign	1 lab	3aaa5a8c16
5:69362949 SMN2 A>G	5	69362949	69362949	A	G	SMN2	c.462A>G	NM_017411.4	NP_059107.1:p.(Gln154=)	NC_000005.9:g.69362949A>G	(Likely) benign	1 lab	eb9c84b7c2
21:19666630 TMPRSS15 C>T	21	19666630	19666630	C	T	TMPRSS15	c.2443G>A	NM_002772.2	NP_002763.2:p.(Val815Ile)	NC_000021.8:g.19666630C>T	(Likely) benign	1 lab	3aac2230db
4:158142211 GRIA2 A>G	4	158142211	158142211	A	G	GRIA2	c.17A>G	NM_001083619.3	NP_001077088.2:p.(His6Arg)	NC_000004.11:g.158142211A>G	VUS	1 lab	eb9d302b24
12:88912552 KITLG C>T	12	88912552	88912552	C	T	KITLG	c.285G>A	NM_000899.4	NP_000890.1:p.(Leu95=)	NC_000012.11:g.88912552C>T	(Likely) benign	1 lab	3aae245c40
X:69665142 DLG3 G>A	X	69665142	69665142	G	A	DLG3	c.91G>A	NM_021120.3	NP_066943.2:p.(Gly31Ser)	NC_000023.10:g.69665142G>A	VUS	1 lab	3aaf8b615c
8:145639157 SLC39A4 G>T	8	145639157	145639157	G	T	SLC39A4	c.1321C>A	NM_017767.2	NP_060237.2:p.(His441Asn)	NC_000008.10:g.145639157G>T	(Likely) benign	1 lab	3ab06a3e7e
2:198266235 SF3B1 A>G	2	198266235	198266235	A	G	SF3B1	c.2385T>C	NM_012433.3	NP_036565.2:p.(Cys795=)	NC_000002.11:g.198266235A>G	(Likely) benign	1 lab	3ab0e1a0d2
18:57026450 LMAN1 G>C	18	57026450	57026450	G	C	LMAN1	c.27C>G	NM_005570.3	NP_005561.1:p.(Leu9=)	NC_000018.9:g.57026450G>C	(Likely) benign	1 lab	3ab1274758
11:22296094 ANO5 CTTT>C	11	22296094	22296105	CTTT	C	ANO5	c.2236-12_2236-10del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22296103_22296105del	(Likely) benign	1 lab	eb9d615f6a
9:133911720 LAMC3 G>C	9	133911720	133911720	G	C	LAMC3	c.976+1G>C	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133911720G>C	VUS	1 lab	eb9e18c6a3
7:151195328 RHEB G>C	7	151195328	151195328	G	C	RHEB	c.53-7228C>G	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151195328G>C	(Likely) benign	1 lab	3ab184ad85
13:103391335 LRTM3 A>G	13	103391335	103391335	A	G	LRTM3	c.11712T>C	NM_001146197.2	NP_001139669.1:p.(Asp3904=)	NC_000013.10:g.103391335A>G	(Likely) benign	1 lab	3ab210f0ec
11:58980037 MPEG1 A>C	11	58980037	58980037	A	C	MPEG1	c.302T>G	NM_001039396.1	NP_001034485.1:p.(Leu101Arg)	NC_000011.9:g.58980037A>C	VUS	1 lab	3ab53cbbf3
22:36696191 MYH9 C>G	22	36696191	36696191	C	G	MYH9	c.2958G>C	NM_002473.5	NP_002464.1:p.(Gln986His)	NC_000022.10:g.36696191C>G	VUS	1 lab	3ab6181428
22:17584453 IL17RA C>T	22	17584453	17584453	C	T	IL17RA	c.832C>T	NM_014339.6	NP_055154.3:p.(Arg278Cys)	NC_000022.10:g.17584453C>T	VUS	1 lab	3ab7671628
3:30896222 GADL1 G>A	3	30896222	30896222	G	A	GADL1	c.397C>T	NM_207359.2	NP_997242.2:p.(Arg133Ter)	NC_000003.11:g.30896222G>A	VUS	1 lab	3ab833b10a
7:99780457 STAG3 A>G	7	99780457	99780457	A	G	STAG3	c.331A>G	NM_001282717.1	NP_001269646.1:p.(Met111Val)	NC_000007.13:g.99780457A>G	(Likely) benign	1 lab	3ab89dd051
9:101911656 TGFBR1 A>G	9	101911656	101911656	A	G	TGFBR1	c.*69A>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101911656A>G	(Likely) benign	1 lab	37462ad7fc
16:72822741 ZFHX3 G>A	16	72822741	72822741	G	A	ZFHX3	c.9434C>T	NM_006885.4	NP_008816.3:p.(Thr3145Met)	NC_000016.9:g.72822741G>A	VUS	1 lab	eba60bdb77
18:6982553 LAMA1 C>T	18	6982553	6982553	C	T	LAMA1	c.5833G>A	NM_005559.3	NP_005550.2:p.(Val1945Met)	NC_000018.9:g.6982553C>T	(Likely) benign	1 lab	3ab8fb85b8
2:163044757 FAP A>G	2	163044757	163044757	A	G	FAP	c.1736T>C	NM_004460.4	NP_004451.2:p.(Phe579Ser)	NC_000002.11:g.163044757A>G	(Likely) benign	1 lab	3ab9105aff
X:130420622 IGSF1 C>A	X	130420622	130420622	C	A	IGSF1	c.27G>T	NM_001170961.1	NP_001164432.1:p.(Gly9=)	NC_000023.10:g.130420622C>A	(Likely) benign	1 lab	3ab9ae17a5
2:97020068 NCAPH G>A	2	97020068	97020068	G	A	NCAPH	c.1150G>A	NM_015341.5	NP_056156.2:p.(Val384Ile)	NC_000002.11:g.97020068G>A	(Likely) benign	1 lab	3abc845dd4
8:17882908 PCM1 A>T	8	17882908	17882908	A	T	PCM1	c.5997A>T	NM_001352650.1	NP_001339579.1:p.(Glu1999Asp)	NC_000008.10:g.17882908A>T	VUS	1 lab	3abd404460
19:45912924 ERCC1 C>G	19	45912924	45912924	C	G	ERCC1	c.*9G>C	NM_001983.3	NP_001974.1:p.?	NC_000019.9:g.45912924C>G	(Likely) benign	1 lab	3d03607392
12:2566726 CACNA1C C>T	12	2566726	2566726	C	T	CACNA1C	c.618-7C>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2566726C>T	(Likely) benign	1 lab	3abf788332
20:10023889 ANKEF1 G>A	20	10023889	10023889	G	A	ANKEF1	c.466G>A	NM_022096.6	NP_071379.3:p.(Ala156Thr)	NC_000020.10:g.10023889G>A	VUS	1 lab	3abf9c9650
6:16327891 ATXN1 C>A	6	16327891	16327891	C	A	ATXN1	c.651G>T	NM_000332.3	NP_000323.2:p.(Gln217His)	NC_000006.11:g.16327891C>A	(Likely) benign	1 lab	3abfece1e0
16:1270463 CACNA1H C>T	16	1270463	1270463	C	T	CACNA1H	c.6531C>T	NM_021098.2	NP_066921.2:p.(Pro2177=)	NC_000016.9:g.1270463C>T	(Likely) benign	1 lab	3ac0f01db1
19:9049196 MUC16 G>C	19	9049196	9049196	G	C	MUC16	c.32435C>G	NM_024690.2	NP_078966.2:p.(Thr10812Arg)	NC_000019.9:g.9049196G>C	VUS	1 lab	3ac12fc321
6:76712698 IMPG1 G>T	6	76712698	76712698	G	T	IMPG1	c.1228C>A	NM_001563.3	NP_001554.2:p.(Pro410Thr)	NC_000006.11:g.76712698G>T	(Likely) benign	1 lab	3ac60cfef3
8:62479820 ASPH C>T	8	62479820	62479820	C	T	ASPH	c.1207G>A	NM_004318.3	NP_004309.2:p.(Glu403Lys)	NC_000008.10:g.62479820C>T	VUS	1 lab	3ac7a66bd4
2:86088302 ST3GAL5 A>AC	2	86088302	86088304	A	AC	ST3GAL5	c.-684+1dup	NM_001354233.1	NP_001341162.1:p.?	NC_000002.11:g.86088304dup	VUS	1 lab	3ac7b3062e
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.5	NP_004984.2:p.(Gly306GlnfsTer36)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	(Likely) benign	1 lab	3ac984b869
21:45947217 TSPEAR C>T	21	45947217	45947217	C	T	TSPEAR	c.903G>A	NM_001272037.1	NP_001258966.1:p.(Thr301=)	NC_000021.8:g.45947217C>T	(Likely) benign	1 lab	3ac9afd745
10:94381172 KIF11 C>T	10	94381172	94381172	C	T	KIF11	c.1159C>T	NM_004523.3	NP_004514.2:p.(Arg387Ter)	NC_000010.10:g.94381172C>T	(Likely) pathogenic	1 lab	3ac9c76f28
6:66200518 EYS A>T	6	66200518	66200518	A	T	EYS	c.831T>A	NM_001292009.1	NP_001278938.1:p.(Ser277Arg)	NC_000006.11:g.66200518A>T	VUS	1 lab	3ac9cf891f
16:72992176 ZFHX3 A>T	16	72992176	72992176	A	T	ZFHX3	c.1869T>A	NM_006885.3	NP_008816.3:p.(Ala623=)	NC_000016.9:g.72992176A>T	(Likely) benign	1 lab	3acba4ce9f
17:29553614 NF1 TG>T	17	29553614	29553618	TG	T	NF1	c.2167del	NM_001042492.3	NP_001035957.1:p.(Val723TrpfsTer25)	NC_000017.10:g.29553618del	(Likely) pathogenic	1 lab	3acc0cfc5e
18:28650823 DSC2 G>C	18	28650823	28650823	G	C	DSC2	c.2126-7C>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28650823G>C	(Likely) benign	1 lab	3787a03714
12:80735746 OTOGL C>T	12	80735746	80735746	C	T	OTOGL	c.5042C>T	NM_173591.3	NP_775862.3:p.(Pro1681Leu)	NC_000012.11:g.80735746C>T	VUS	1 lab	3acce0453b
16:50815275 CYLD C>T	16	50815275	50815275	C	T	CYLD	c.1637C>T	NM_015247.2	NP_056062.1:p.(Ala546Val)	NC_000016.9:g.50815275C>T	VUS	1 lab	3ad11e1c78
5:140966617 DIAPH1 G>C	5	140966617	140966617	G	C	DIAPH1	c.292C>G	NM_005219.4	NP_005210.3:p.(Gln98Glu)	NC_000005.9:g.140966617G>C	VUS	1 lab	3ad2c2cfd0
19:50726342 MYH14 C>T	19	50726342	50726342	C	T	MYH14	c.565C>T	NM_001145809.1	NP_001139281.1:p.(Arg189Cys)	NC_000019.9:g.50726342C>T	(Likely) benign	1 lab	3ad3ba21fc
11:2906311 CDKN1C G>C	11	2906311	2906311	G	C	CDKN1C	c.409C>G	NM_000076.2	NP_000067.1:p.(Pro137Ala)	NC_000011.9:g.2906311G>C	(Likely) benign	1 lab	3ad3f983ac
16:27751488 KATNIP G>A	16	27751488	27751488	G	A	KATNIP	c.1870G>A	NM_015202.3	NP_056017.3:p.(Glu624Lys)	NC_000016.9:g.27751488G>A	VUS	1 lab	3ad408912e
8:11614440 GATA4 C>G	8	11614440	11614440	C	G	GATA4	c.998-4C>G	NM_002052.4	NP_002043.2:p.?	NC_000008.10:g.11614440C>G	(Likely) benign	1 lab	3ad4664236
8:20107433 LZTS1 C>T	8	20107433	20107433	C	T	LZTS1	c.1591G>A	NM_001362884.1	NP_001349813.1:p.(Val531Met)	NC_000008.10:g.20107433C>T	(Likely) benign	1 lab	3ad6ec1584
X:26157755 MAGEB18 C>T	X	26157755	26157755	C	T	MAGEB18	c.653C>T	NM_173699.3	NP_775970.1:p.(Ala218Val)	NC_000023.10:g.26157755C>T	VUS	1 lab	3ad7ad51be
7:5769150 RNF216 G>A	7	5769150	5769150	G	A	RNF216	c.1302C>T	NM_207111.3	NP_996994.1:p.(Leu434=)	NC_000007.13:g.5769150G>A	(Likely) benign	1 lab	3ad91a337c
8:144994940 PLEC G>A	8	144994940	144994940	G	A	PLEC	c.9460C>T	NM_201380.3	NP_958782.1:p.(Arg3154Trp)	NC_000008.10:g.144994940G>A	VUS	1 lab	3aded00695
17:39340795 KRTAP4-1 ACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG>A	17	39340795	39340868	ACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	A	KRTAP4-1	c.255_311del	NM_001386841.1	NP_001373770.1:p.(His94_Cys112del)	NC_000017.10:g.39340812_39340868del	(Likely) benign	1 lab	3adf7e57c4
11:5269581 HBG1 C>CA	11	5269581	5269582	C	CA	HBG1	c.*7dup	NM_000559.3	NP_000550.2:p.?	NC_000011.9:g.5269582dup	(Likely) benign	1 lab	ebafe0c4a3
2:209179091 PIKFYVE C>T	2	209179091	209179091	C	T	PIKFYVE	c.1770C>T	NM_015040.3	NP_055855.2:p.(Asn590=)	NC_000002.11:g.209179091C>T	(Likely) benign	1 lab	3ae14a8a20
17:41203083 BRCA1 T>TG	17	41203083	41203086	T	TG	BRCA1	c.5328dup	NM_007294.3	NP_009225.1:p.(Thr1777HisfsTer53)	NC_000017.10:g.41203086dup	(Likely) pathogenic	1 lab	3ae3c328b6
2:74320665 TET3 G>C	2	74320665	74320665	G	C	TET3	c.3139G>C	NM_001287491.2	NP_001274420.1:p.(Glu1047Gln)	NC_000002.11:g.74320665G>C	VUS	1 lab	3ae42c4408
6:44271910 AARS2 G>A	6	44271910	44271910	G	A	AARS2	c.2007+8C>T	NM_020745.3	NP_065796.1:p.?	NC_000006.11:g.44271910G>A	(Likely) benign	1 lab	3ae4675109
12:49420769 KMT2D G>C	12	49420769	49420769	G	C	KMT2D	c.14980C>G	NM_003482.3	NP_003473.3:p.(Leu4994Val)	NC_000012.11:g.49420769G>C	VUS	1 lab	3ae4c99e00
5:176830588 F12 G>A	5	176830588	176830588	G	A	F12	c.1281C>T	NM_000505.3	NP_000496.2:p.(Leu427=)	NC_000005.9:g.176830588G>A	(Likely) benign	1 lab	3ae6a901cf
1:201869694 LMOD1 G>C	1	201869694	201869694	G	C	LMOD1	c.447C>G	NM_012134.3	NP_036266.2:p.(Pro149=)	NC_000001.10:g.201869694G>C	(Likely) benign	1 lab	3ae8868ba9
X:152773766 BGN G>A	X	152773766	152773766	G	A	BGN	c.970G>A	NM_001711.5	NP_001702.1:p.(Gly324Ser)	NC_000023.10:g.152773766G>A	VUS	1 lab	3ae96c7978
1:20972043 PINK1 T>C	1	20972043	20972043	T	C	PINK1	c.960-10T>C	NM_032409.2	NP_115785.1:p.?	NC_000001.10:g.20972043T>C	(Likely) benign	1 lab	3ae9885785
7:103474032 RELN C>T	7	103474032	103474032	C	T	RELN	c.425G>A	NM_005045.4	NP_005036.2:p.(Ser142Asn)	NC_000007.13:g.103474032C>T	VUS	1 lab	ebb05424dc
10:79742025 POLR3A C>T	10	79742025	79742025	C	T	POLR3A	c.3646G>A	NM_007055.3	NP_008986.2:p.(Glu1216Lys)	NC_000010.10:g.79742025C>T	VUS	1 lab	3aed633dc8
21:46914467 COL18A1 G>T	21	46914467	46914467	G	T	COL18A1	c.3606G>T	NM_130444.3	NP_569711.2:p.(Pro1202=)	NC_000021.8:g.46914467G>T	(Likely) benign	1 lab	3aedc65afc
14:20216343 OR4Q3 G>T	14	20216343	20216343	G	T	OR4Q3	c.757G>T	NM_172194.1	NP_751944.1:p.(Val253Leu)	NC_000014.8:g.20216343G>T	(Likely) benign	1 lab	3aefa9a9f4
1:26517215 CATSPER4 G>A	1	26517215	26517215	G	A	CATSPER4	c.97G>A	NM_198137.1	NP_937770.1:p.(Gly33Arg)	NC_000001.10:g.26517215G>A	(Likely) benign	1 lab	3af0344620
11:65636054 EFEMP2 G>A	11	65636054	65636054	G	A	EFEMP2	c.774C>T	NM_016938.4	NP_058634.4:p.(Cys258=)	NC_000011.9:g.65636054G>A	(Likely) benign	1 lab	3af1ff72ba
1:39893177 MACF1 C>T	1	39893177	39893177	C	T	MACF1	c.10181C>T	NM_012090.5	NP_036222.3:p.(Thr3394Ile)	NC_000001.10:g.39893177C>T	(Likely) benign	1 lab	3af2dec636
3:46747392 TMIE C>T	3	46747392	46747392	C	T	TMIE	c.206C>T	NM_147196.2	NP_671729.2:p.(Ser69Phe)	NC_000003.11:g.46747392C>T	VUS	1 lab	3af4f17a81
18:50705370 DCC A>T	18	50705370	50705370	A	T	DCC	c.1457A>T	NM_005215.3	NP_005206.2:p.(Gln486Leu)	NC_000018.9:g.50705370A>T	VUS	1 lab	3af50d1a78
15:40727775 IVD C>T	15	40727775	40727775	C	T	IVD	c.1298C>T	NM_001354601.2	NP_001341530.2:p.(Ser433Leu)	NC_000015.9:g.40727775C>T	VUS	1 lab	3af6d4d79c
X:110006027 CHRDL1 T>C	X	110006027	110006027	T	C	CHRDL1	c.103A>G	NM_001143981.1	NP_001137453.1:p.(Thr35Ala)	NC_000023.10:g.110006027T>C	VUS	1 lab	3af90fb924
13:32910766 BRCA2 T>G	13	32910766	32910766	T	G	BRCA2	c.2274T>G	NM_000059.3	NP_000050.2:p.(Ser758Arg)	NC_000013.10:g.32910766T>G	(Likely) benign	1 lab	3af9610f51
X:70823845 GCNA G>T	X	70823845	70823845	G	T	GCNA	c.718G>T	NM_052957.4	NP_443189.1:p.(Asp240Tyr)	NC_000023.10:g.70823845G>T	(Likely) benign	1 lab	3af9d34942
4:5733336 EVC G>T	4	5733336	5733336	G	T	EVC	c.569G>T	NM_153717.2	NP_714928.1:p.(Arg190Leu)	NC_000004.11:g.5733336G>T	VUS	1 lab	3afbd5cbb5
19:859723 CFD C>T	19	859723	859723	C	T	CFD	c.34C>T	NM_001928.2	NP_001919.2:p.(Leu12Phe)	NC_000019.9:g.859723C>T	(Likely) benign	1 lab	3afcb9165c
1:229771762 URB2 C>T	1	229771762	229771762	C	T	URB2	c.1402C>T	NM_001314021.1	NP_001300950.1:p.(Arg468Trp)	NC_000001.10:g.229771762C>T	VUS	1 lab	3afce0321a
9:139391832 NOTCH1 C>T	9	139391832	139391832	C	T	NOTCH1	c.6359G>A	NM_017617.5	NP_060087.3:p.(Arg2120His)	NC_000009.11:g.139391832C>T	VUS	1 lab	3afe1ad093
14:76088445 FLVCR2 G>T	14	76088445	76088445	G	T	FLVCR2	c.693G>T	NM_017791.2	NP_060261.2:p.(Leu231Phe)	NC_000014.8:g.76088445G>T	VUS	1 lab	3b008f6c41
13:111142063 COL4A2 A>G	13	111142063	111142063	A	G	COL4A2	c.3277A>G	NM_001846.3	NP_001837.2:p.(Ile1093Val)	NC_000013.10:g.111142063A>G	(Likely) benign	1 lab	3b018723d6
X:77086343 MAGT1 C>A	X	77086343	77086343	C	A	MAGT1	c.1047G>T	NM_032121.5	NP_115497.4:p.(Met349Ile)	NC_000023.10:g.77086343C>A	(Likely) benign	1 lab	3b02a0c472
2:85769711 MAT2A C>G	2	85769711	85769711	C	G	MAT2A	c.792C>G	NM_005911.5	NP_005902.1:p.(Arg264=)	NC_000002.11:g.85769711C>G	(Likely) benign	1 lab	3b0393eae9
16:2126043 TSC2 G>T	16	2126043	2126043	G	T	TSC2	c.2640-26G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126043G>T	(Likely) benign	1 lab	3b039e50ff
21:46875565 COL18A1 G>A	21	46875565	46875565	G	A	COL18A1	c.121G>A	NM_130444.3	NP_569711.2:p.(Ala41Thr)	NC_000021.8:g.46875565G>A	(Likely) benign	1 lab	3b067e4d03
16:75665690 KARS1 T>C	16	75665690	75665690	T	C	KARS1	c.1063A>G	NM_001130089.1	NP_001123561.1:p.(Ile355Val)	NC_000016.9:g.75665690T>C	VUS	1 lab	3b08fdae52
17:71192859 COG1 A>G	17	71192859	71192859	A	G	COG1	c.529A>G	NM_018714.2	NP_061184.1:p.(Ile177Val)	NC_000017.10:g.71192859A>G	(Likely) benign	1 lab	3b097e9038
2:238303252 COL6A3 C>T	2	238303252	238303252	C	T	COL6A3	c.687G>A	NM_004369.3	NP_004360.2:p.(Thr229=)	NC_000002.11:g.238303252C>T	(Likely) benign	1 lab	3b0b0d97d0
X:118709366 UBE2A A>G	X	118709366	118709366	A	G	UBE2A	c.151+3A>G	NM_003336.3	NP_003327.2:p.?	NC_000023.10:g.118709366A>G	(Likely) benign	1 lab	3b0b4a7f50
1:92946412 GFI1 C>T	1	92946412	92946412	C	T	GFI1	c.532G>A	NM_005263.3	NP_005254.2:p.(Gly178Arg)	NC_000001.10:g.92946412C>T	(Likely) benign	1 lab	3b0bfd9e32
17:29665134 NF1 C>T	17	29665134	29665134	C	T	NF1	c.6733C>T	NM_000267.3	NP_000258.1:p.(Gln2245Ter)	NC_000017.10:g.29665134C>T	(Likely) pathogenic	1 lab	3b0c97aba9
3:10417306 ATP2B2 C>T	3	10417306	10417306	C	T	ATP2B2	c.1089G>A	NM_001330611.2	NP_001317540.1:p.(Thr363=)	NC_000003.11:g.10417306C>T	(Likely) benign	1 lab	3b0d299978
5:63256838 HTR1A C>T	5	63256838	63256838	C	T	HTR1A	c.709G>A	NM_000524.3	NP_000515.2:p.(Gly237Arg)	NC_000005.9:g.63256838C>T	(Likely) benign	1 lab	3b0d74e81f
1:197087072 ASPM G>T	1	197087072	197087072	G	T	ASPM	c.3912C>A	NM_018136.4	NP_060606.3:p.(Ile1304=)	NC_000001.10:g.197087072G>T	(Likely) benign	1 lab	3b10e2233b
7:82578811 PCLO T>G	7	82578811	82578811	T	G	PCLO	c.11093A>C	NM_033026.5	NP_149015.2:p.(Gln3698Pro)	NC_000007.13:g.82578811T>G	VUS	1 lab	3b10ee014f
2:86297400 POLR1A G>A	2	86297400	86297400	G	A	POLR1A	c.1612-5C>T	NM_015425.5	NP_056240.2:p.?	NC_000002.11:g.86297400G>A	(Likely) benign	1 lab	3b118ab761
11:1252192 MUC5B C>T	11	1252192	1252192	C	T	MUC5B	c.1497C>T	NM_002458.2	NP_002449.2:p.(Gly499=)	NC_000011.9:g.1252192C>T	(Likely) benign	1 lab	3b144af080
10:115327273 HABP2 G>T	10	115327273	115327273	G	T	HABP2	c.95G>T	NM_004132.4	NP_004123.1:p.(Ser32Ile)	NC_000010.10:g.115327273G>T	(Likely) benign	1 lab	3b14c82454
15:25601098 UBE3A T>C	15	25601098	25601098	T	C	UBE3A	c.2005A>G	NM_130838.1	NP_570853.1:p.(Met669Val)	NC_000015.9:g.25601098T>C	(Likely) benign	1 lab	3b156d8017
18:7036079 LAMA1 C>T	18	7036079	7036079	C	T	LAMA1	c.1746G>A	NM_005559.3	NP_005550.2:p.(Ala582=)	NC_000018.9:g.7036079C>T	(Likely) benign	1 lab	3b16e47aae
8:144997368 PLEC G>A	8	144997368	144997368	G	A	PLEC	c.7140C>T	NM_201380.3	NP_958782.1:p.(Leu2380=)	NC_000008.10:g.144997368G>A	(Likely) benign	1 lab	3b1a00f08c
22:50658686 TUBGCP6 C>T	22	50658686	50658686	C	T	TUBGCP6	c.4102G>A	NM_020461.3	NP_065194.2:p.(Glu1368Lys)	NC_000022.10:g.50658686C>T	(Likely) benign	1 lab	3b1ab9a70e
17:8791619 PIK3R5 A>T	17	8791619	8791619	A	T	PIK3R5	c.327T>A	NM_001251851.1	NP_001238780.1:p.(Pro109=)	NC_000017.10:g.8791619A>T	VUS	1 lab	3b1b6b8abf
2:179472915 TTN A>G	2	179472915	179472915	A	G	TTN	c.52695T>C	NM_001267550.1	NP_001254479.1:p.(His17565=)	NC_000002.11:g.179472915A>G	(Likely) benign	1 lab	3b1d1616ff
18:29116237 DSG2 T>C	18	29116237	29116237	T	C	DSG2	c.1496T>C	NM_001943.3	NP_001934.2:p.(Leu499Pro)	NC_000018.9:g.29116237T>C	VUS	1 lab	3b1e995e15
X:37061392 FTHL18P C>T	X	37061392	37061392	C	T	FTHL18P	c.370G>A	NM_001271682.1	NP_001258611.1:p.(Val124Ile)	NC_000023.10:g.37061392C>T	VUS	1 lab	3b1ee32d6c
5:79734476 ZFYVE16 A>G	5	79734476	79734476	A	G	ZFYVE16	c.1972A>G	NM_001105251.3	NP_001098721.1:p.(Arg658Gly)	NC_000005.9:g.79734476A>G	(Likely) benign	1 lab	3b1f2204c5
3:49694920 BSN A>G	3	49694920	49694920	A	G	BSN	c.7931A>G	NM_003458.3	NP_003449.2:p.(Lys2644Arg)	NC_000003.11:g.49694920A>G	VUS	1 lab	3b2036da25
5:150920157 FAT2 C>T	5	150920157	150920157	C	T	FAT2	c.9010G>A	NM_001447.2	NP_001438.1:p.(Val3004Ile)	NC_000005.9:g.150920157C>T	(Likely) benign	1 lab	3b21df966e
X:67433706 OPHN1 G>C	X	67433706	67433706	G	C	OPHN1	c.595C>G	NM_002547.2	NP_002538.1:p.(Pro199Ala)	NC_000023.10:g.67433706G>C	VUS	1 lab	3b2304385a
21:47836575 PCNT C>T	21	47836575	47836575	C	T	PCNT	c.6743C>T	NM_006031.5	NP_006022.3:p.(Ser2248Leu)	NC_000021.8:g.47836575C>T	(Likely) benign	1 lab	3b23bb7bec
14:70418985 SMOC1 C>T	14	70418985	70418985	C	T	SMOC1	c.230C>T	NM_001034852.2	NP_001030024.1:p.(Pro77Leu)	NC_000014.8:g.70418985C>T	(Likely) benign	1 lab	3b248f7d95
2:179640520 TTN T>A	2	179640520	179640520	T	A	TTN	c.6071A>T	NM_001267550.1	NP_001254479.1:p.(Asp2024Val)	NC_000002.11:g.179640520T>A	VUS	1 lab	3b2795cf83
9:117266673 WHRN C>G	9	117266673	117266673	C	G	WHRN	c.409G>C	NM_015404.3	NP_056219.3:p.(Glu137Gln)	NC_000009.11:g.117266673C>G	VUS	1 lab	3b28ccfb8a
15:43892808 STRC T>G	15	43892808	43892808	T	G	STRC	c.4917A>C	NM_153700.2	NP_714544.1:p.(Leu1639=)	NC_000015.9:g.43892808T>G	(Likely) pathogenic	1 lab	3b295d3a18
19:13136170 NFIX C>T	19	13136170	13136170	C	T	NFIX	c.387C>T	NM_001271043.2	NP_001257972.1:p.(Arg129=)	NC_000019.9:g.13136170C>T	(Likely) benign	1 lab	3b2a24bcb6
8:100115273 VPS13B C>A	8	100115273	100115273	C	A	VPS13B	c.505C>A	NM_017890.4	NP_060360.3:p.(Leu169Ile)	NC_000008.10:g.100115273C>A	VUS	1 lab	3b2b76b008
15:89868896 POLG G>C	15	89868896	89868896	G	C	POLG	c.1734C>G	NM_002693.2	NP_002684.1:p.(Pro578=)	NC_000015.9:g.89868896G>C	(Likely) benign	1 lab	3b2b87ab72
X:27765399 DCAF8L2 AGAGGAGGAGGAGGAGGAGGAGGAG>A	X	27765399	27765446	AGAGGAGGAGGAGGAGGAGGAGGAG	A	DCAF8L2	c.411_434del	NM_001353450.2	NP_001340379.1:p.(Glu140_Glu147del)	NC_000023.10:g.27765423_27765446del	VUS	1 lab	3b2c410a37
10:61819684 ANK3 A>C	10	61819684	61819684	A	C	ANK3	c.4837T>G	NM_001320874.1	NP_001307803.1:p.(Tyr1613Asp)	NC_000010.10:g.61819684A>C	VUS	1 lab	3b2c9d1d48
11:47371298 MYBPC3 G>A	11	47371298	47371298	G	A	MYBPC3	c.654+27C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371298G>A	(Likely) benign	1 lab	3b2ddec635
16:85687974 GSE1 C>G	16	85687974	85687974	C	G	GSE1	c.517C>G	NM_014615.4	NP_055430.1:p.(Pro173Ala)	NC_000016.9:g.85687974C>G	VUS	1 lab	3b2e2919b6
3:126228436 UROC1 C>T	3	126228436	126228436	C	T	UROC1	c.343G>A	NM_001165974.1	NP_001159446.1:p.(Val115Met)	NC_000003.11:g.126228436C>T	(Likely) benign	1 lab	3b2f963987
2:72371180 CYP26B1 T>C	2	72371180	72371180	T	C	CYP26B1	c.367A>G	NM_019885.3	NP_063938.1:p.(Met123Val)	NC_000002.11:g.72371180T>C	(Likely) benign	1 lab	3b30151572
X:135758808 ARHGEF6 C>T	X	135758808	135758808	C	T	ARHGEF6	c.1920G>A	NM_004840.2	NP_004831.1:p.(Ser640=)	NC_000023.10:g.135758808C>T	(Likely) benign	1 lab	3b31f6c8a5
17:29508741 NF1 G>A	17	29508741	29508741	G	A	NF1	c.668G>A	NM_000267.3	NP_000258.1:p.(Trp223Ter)	NC_000017.10:g.29508741G>A	(Likely) pathogenic	1 lab	3b31fe1848
4:55569950 KIT G>A	4	55569950	55569950	G	A	KIT	c.817G>A	NM_000222.2	NP_000213.1:p.(Ala273Thr)	NC_000004.11:g.55569950G>A	(Likely) benign	1 lab	3b32432dfa
17:4927049 KIF1C C>T	17	4927049	4927049	C	T	KIF1C	c.2915C>T	NM_006612.5	NP_006603.2:p.(Pro972Leu)	NC_000017.10:g.4927049C>T	VUS	1 lab	3b324c8be4
19:13002958 GCDH G>T	19	13002958	13002958	G	T	GCDH	c.300G>T	NM_000159.3	NP_000150.1:p.(Met100Ile)	NC_000019.9:g.13002958G>T	(Likely) benign	1 lab	3b333546b5
17:29684099 NF1 T>TA	17	29684099	29684100	T	TA	NF1	c.7798dup	NM_000267.3	NP_000258.1:p.(Thr2600AsnfsTer13)	NC_000017.10:g.29684100dup	(Likely) pathogenic	1 lab	3b34396947
7:92244589 CDK6 T>C	7	92244589	92244589	T	C	CDK6	c.846A>G	NM_001145306.1	NP_001138778.1:p.(Thr282=)	NC_000007.13:g.92244589T>C	(Likely) benign	1 lab	3b35bb8fe3
14:76455281 IFT43 C>T	14	76455281	76455281	C	T	IFT43	c.108C>T	NM_001255995.1	NP_001242924.1:p.(His36=)	NC_000014.8:g.76455281C>T	(Likely) benign	1 lab	3b36d020ae
8:143960458 CYP11B1 C>T	8	143960458	143960458	C	T	CYP11B1	c.385G>A	NM_000497.3	NP_000488.3:p.(Val129Met)	NC_000008.10:g.143960458C>T	(Likely) pathogenic	1 lab	3b37328def
13:48575357 SUCLA2 G>C	13	48575357	48575357	G	C	SUCLA2	c.49C>G	NM_003850.2	NP_003841.1:p.(Arg17Gly)	NC_000013.10:g.48575357G>C	(Likely) benign	1 lab	3b375bdf7e
10:17278283 VIM G>A	10	17278283	17278283	G	A	VIM	c.1274-10G>A	NM_003380.4	NP_003371.2:p.?	NC_000010.10:g.17278283G>A	(Likely) benign	1 lab	3b37b8c08f
X:99551347 PCDH19 G>A	X	99551347	99551347	G	A	PCDH19	c.3375C>T	NM_001184880.1	NP_001171809.1:p.(Val1125=)	NC_000023.10:g.99551347G>A	(Likely) benign	1 lab	3b390c5095
2:223161834 PAX3 T>C	2	223161834	223161834	T	C	PAX3	c.184A>G	NM_181458.3	NP_852123.1:p.(Met62Val)	NC_000002.11:g.223161834T>C	(Likely) pathogenic	1 lab	3b39ee61d1
17:48433913 XYLT2 G>A	17	48433913	48433913	G	A	XYLT2	c.1524G>A	NM_022167.3	NP_071450.2:p.(Ser508=)	NC_000017.10:g.48433913G>A	(Likely) benign	1 lab	3b3a734cac
21:47848299 PCNT G>A	21	47848299	47848299	G	A	PCNT	c.7495-10G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47848299G>A	(Likely) benign	1 lab	3b3b66f407
X:8434158 VCX3B GAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCC>G	X	8434158	8434310	GAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCC	G	VCX3B	c.508_627del	NM_001001888.4	NP_001001888.3:p.(Val170_Glu209del)	NC_000023.10:g.8434191_8434310del	VUS	1 lab	ebb7b14af7
19:45888991 PPP1R13L G>T	19	45888991	45888991	G	T	PPP1R13L	c.2082-5C>A	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45888991G>T	(Likely) benign	1 lab	3b3c3b1db4
6:47650001 ADGRF2P G>A	6	47650001	47650001	G	A	ADGRF2P	c.1502G>A	NM_153839.6	NP_722581.4:p.(Gly501Glu)	NC_000006.11:g.47650001G>A	VUS	1 lab	3b3dd51920
16:81164213 MISSING G>A	16	81164213	81164213	G	A	MISSING				NC_000016.9:g.81164213G>A	VUS	1 lab	3b3ddc26a9
2:72359478 CYP26B1 G>A	2	72359478	72359478	G	A	CYP26B1	c.1417C>T	NM_019885.3	NP_063938.1:p.(Arg473Cys)	NC_000002.11:g.72359478G>A	(Likely) benign	1 lab	3b3e4a8268
10:97387282 ALDH18A1 T>C	10	97387282	97387282	T	C	ALDH18A1	c.995A>G	NM_001323413.1	NP_001310342.1:p.(His332Arg)	NC_000010.10:g.97387282T>C	(Likely) benign	1 lab	3b3e541a9a
17:64873462 CACNG5 C>T	17	64873462	64873462	C	T	CACNG5	c.12C>T	NM_145811.2	NP_665810.1:p.(Cys4=)	NC_000017.10:g.64873462C>T	(Likely) benign	1 lab	3b3e787b92
3:49159453 LAMB2 C>T	3	49159453	49159453	C	T	LAMB2	c.4847G>A	NM_002292.3	NP_002283.3:p.(Arg1616Gln)	NC_000003.11:g.49159453C>T	VUS	1 lab	3b3ec11453
1:216219886 USH2A A>G	1	216219886	216219886	A	G	USH2A	c.6212T>C	NM_206933.2	NP_996816.2:p.(Leu2071Ser)	NC_000001.10:g.216219886A>G	VUS	1 lab	3b3f9116e0
X:21863371 MBTPS2 G>A	X	21863371	21863371	G	A	MBTPS2	c.307G>A	NM_015884.3	NP_056968.1:p.(Ala103Thr)	NC_000023.10:g.21863371G>A	(Likely) benign	1 lab	3b41010979
2:1481315 TPO C>A	2	1481315	1481315	C	A	TPO	c.1277C>A	NM_000547.5	NP_000538.3:p.(Ala426Glu)	NC_000002.11:g.1481315C>A	(Likely) benign	1 lab	3b41a24403
1:1168039 B3GALT6 C>G	1	1168039	1168039	C	G	B3GALT6	c.381C>G	NM_080605.4	NP_542172.2:p.(Asp127Glu)	NC_000001.10:g.1168039C>G	VUS	1 lab	3b425faa62
X:40990771 USP9X A>G	X	40990771	40990771	A	G	USP9X	c.304A>G	NM_001039590.2	NP_001034679.2:p.(Ile102Val)	NC_000023.10:g.40990771A>G	VUS	1 lab	3b42c1a05a
7:5751443 RNF216 C>A	7	5751443	5751443	C	A	RNF216	c.2010G>T	NM_207111.3	NP_996994.1:p.(Leu670=)	NC_000007.13:g.5751443C>A	(Likely) benign	1 lab	3b45e0fa44
X:49104009 CCDC22 G>A	X	49104009	49104009	G	A	CCDC22	c.962G>A	NM_014008.4	NP_054727.1:p.(Arg321Gln)	NC_000023.10:g.49104009G>A	(Likely) benign	1 lab	3b46df2358
3:142238537 ATR T>C	3	142238537	142238537	T	C	ATR	c.4356A>G	NM_001184.3	NP_001175.2:p.(Glu1452=)	NC_000003.11:g.142238537T>C	(Likely) benign	1 lab	3b479044c1
10:89474535 PAPSS2 C>T	10	89474535	89474535	C	T	PAPSS2	c.554C>T	NM_001015880.1	NP_001015880.1:p.(Pro185Leu)	NC_000010.10:g.89474535C>T	VUS	1 lab	3b49f5a08f
14:64497978 SYNE2 T>C	14	64497978	64497978	T	C	SYNE2	c.7124T>C	NM_182914.2	NP_878918.2:p.(Leu2375Pro)	NC_000014.8:g.64497978T>C	(Likely) benign	1 lab	3b4a4745e7
8:113960080 CSMD3 A>C	8	113960080	113960080	A	C	CSMD3	c.1447T>G	NM_198123.2	NP_937756.1:p.(Ser483Ala)	NC_000008.10:g.113960080A>C	VUS	1 lab	3b501e9d06
15:43817039 MAP1A G>A	15	43817039	43817039	G	A	MAP1A	c.3368G>A	NM_002373.6	NP_002364.5:p.(Arg1123Lys)	NC_000015.9:g.43817039G>A	(Likely) benign	1 lab	3b50bf9910
14:105419010 AHNAK2 C>T	14	105419010	105419010	C	T	AHNAK2	c.2778G>A	NM_138420.3	NP_612429.2:p.(Met926Ile)	NC_000014.8:g.105419010C>T	VUS	1 lab	3b52e316ac
18:19100758 GREB1L A>ATCT	18	19100758	19100762	A	ATCT	GREB1L	c.5584_5586dup	NM_001142966.2	NP_001136438.1:p.(Leu1862dup)	NC_000018.9:g.19100760_19100762dup	(Likely) benign	1 lab	3b53e2c932
17:36499259 GPR179 G>A	17	36499259	36499259	G	A	GPR179	c.414C>T	NM_001004334.3	NP_001004334.3:p.(Ala138=)	NC_000017.10:g.36499259G>A	(Likely) benign	1 lab	3b54413aa7
X:51638410 MAGED1 G>A	X	51638410	51638410	G	A	MAGED1	c.475G>A	NM_001005333.1	NP_001005333.1:p.(Val159Met)	NC_000023.10:g.51638410G>A	(Likely) benign	1 lab	3b54a379b9
6:129759824 LAMA2 G>A	6	129759824	129759824	G	A	LAMA2	c.6002G>A	NM_000426.3	NP_000417.2:p.(Arg2001Lys)	NC_000006.11:g.129759824G>A	(Likely) benign	1 lab	3b5662fd01
10:102750235 TWNK C>T	10	102750235	102750235	C	T	TWNK	c.1527C>T	NM_001163812.1	NP_001157284.1:p.(Asp509=)	NC_000010.10:g.102750235C>T	(Likely) benign	1 lab	3b5727ec47
1:237732533 RYR2 A>G	1	237732533	237732533	A	G	RYR2	c.3512A>G	NM_001035.2	NP_001026.2:p.(His1171Arg)	NC_000001.10:g.237732533A>G	(Likely) benign	1 lab	3b588d9736
17:73824986 UNC13D G>A	17	73824986	73824986	G	A	UNC13D	c.3033C>T	NM_199242.2	NP_954712.1:p.(Ala1011=)	NC_000017.10:g.73824986G>A	(Likely) benign	1 lab	3b5ece0535
8:145738598 RECQL4 A>G	8	145738598	145738598	A	G	RECQL4	c.2463+3T>C	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738598A>G	(Likely) benign	1 lab	3b5ece99c8
19:37210621 ZNF567 CAG>C	19	37210621	37210623	CAG	C	ZNF567	c.996_997del	NM_001322917.1	NP_001309846.1:p.(Lys335IlefsTer3)	NC_000019.9:g.37210622_37210623del	VUS	1 lab	3b5f036a1a
13:32936755 BRCA2 T>A	13	32936755	32936755	T	A	BRCA2	c.7901T>A	NM_000059.3	NP_000050.2:p.(Met2634Lys)	NC_000013.10:g.32936755T>A	VUS	1 lab	3b605162d2
2:96944361 SNRNP200 G>A	2	96944361	96944361	G	A	SNRNP200	c.5412C>T	NM_014014.4	NP_054733.2:p.(Ile1804=)	NC_000002.11:g.96944361G>A	(Likely) benign	1 lab	3b608704db
X:107977840 IRS4 C>T	X	107977840	107977840	C	T	IRS4	c.1735G>A	NM_003604.2	NP_003595.1:p.(Gly579Ser)	NC_000023.10:g.107977840C>T	(Likely) benign	1 lab	3b61017acd
3:12983294 IQSEC1 G>A	3	12983294	12983294	G	A	IQSEC1	c.95C>T	NM_001134382.3	NP_001127854.1:p.(Pro32Leu)	NC_000003.11:g.12983294G>A	VUS	1 lab	3b6190b7f4
3:123680012 CCDC14 C>T	3	123680012	123680012	C	T	CCDC14	c.9G>A	NM_022757.5	NP_073594.5:p.(Arg3=)	NC_000003.11:g.123680012C>T	(Likely) benign	1 lab	3b61bf2530
1:166827423 TADA1 C>T	1	166827423	166827423	C	T	TADA1	c.788G>A	NM_053053.4	NP_444281.1:p.(Cys263Tyr)	NC_000001.10:g.166827423C>T	VUS	1 lab	3b645bc92f
1:215990455 USH2A G>A	1	215990455	215990455	G	A	USH2A	c.9454C>T	NM_206933.2	NP_996816.2:p.(Pro3152Ser)	NC_000001.10:g.215990455G>A	(Likely) benign	1 lab	3b67b4c211
22:19864650 TXNRD2 G>A	22	19864650	19864650	G	A	TXNRD2	c.1550C>T	NM_001352300.2	NP_001339229.1:p.(Thr517Met)	NC_000022.10:g.19864650G>A	VUS	1 lab	ebbf307d47
21:47635212 LSS G>A	21	47635212	47635212	G	A	LSS	c.653C>T	NM_001145437.1	NP_001138909.1:p.(Ala218Val)	NC_000021.8:g.47635212G>A	(Likely) benign	1 lab	3b6958ec4f
21:34839404 TMEM50B A>G	21	34839404	34839404	A	G	TMEM50B	c.125T>C	NM_006134.7	NP_006125.2:p.(Ile42Thr)	NC_000021.8:g.34839404A>G	VUS	1 lab	3b6b44f60c
X:140994386 MAGEC1 C>A	X	140994386	140994386	C	A	MAGEC1	c.1196C>A	NM_005462.4	NP_005453.2:p.(Thr399Asn)	NC_000023.10:g.140994386C>A	(Likely) benign	1 lab	3b6b9c30fb
9:14824923 FREM1 T>G	9	14824923	14824923	T	G	FREM1	c.1949A>C	NM_144966.5	NP_659403.4:p.(His650Pro)	NC_000009.11:g.14824923T>G	VUS	1 lab	3b6cb698ef
X:14883632 FANCB T>G	X	14883632	14883632	T	G	FANCB	c.1A>C	NM_001018113.1	NP_001018123.1:p.(Met1?)	NC_000023.10:g.14883632T>G	VUS	1 lab	3b6d91a66f
3:123018971 ADCY5 C>T	3	123018971	123018971	C	T	ADCY5	c.2896G>A	NM_183357.3	NP_899200.1:p.(Ala966Thr)	NC_000003.11:g.123018971C>T	VUS	1 lab	ebc2c30cc6
X:107975951 IRS4 A>C	X	107975951	107975951	A	C	IRS4	c.3624T>G	NM_003604.2	NP_003595.1:p.(Ala1208=)	NC_000023.10:g.107975951A>C	(Likely) benign	1 lab	3b6eedff32
1:152277553 FLG C>T	1	152277553	152277553	C	T	FLG	c.9809G>A	NM_002016.1	NP_002007.1:p.(Arg3270His)	NC_000001.10:g.152277553C>T	(Likely) benign	1 lab	3b6f11665d
4:88986608 PKD2 G>T	4	88986608	88986608	G	T	PKD2	c.2201G>T	NM_000297.3	NP_000288.1:p.(Gly734Val)	NC_000004.11:g.88986608G>T	VUS	1 lab	3b6f7de868
X:153132955 L1CAM G>C	X	153132955	153132955	G	C	L1CAM	c.1993C>G	NM_001278116.1	NP_001265045.1:p.(Leu665Val)	NC_000023.10:g.153132955G>C	VUS	1 lab	3b6f969f2e
1:5933357 NPHP4 G>A	1	5933357	5933357	G	A	NPHP4	c.3270C>T	NM_015102.4	NP_055917.1:p.(Ala1090=)	NC_000001.10:g.5933357G>A	(Likely) benign	1 lab	3b708eeb7b
5:13708216 DNAH5 G>A	5	13708216	13708216	G	A	DNAH5	c.13338+16C>T	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13708216G>A	(Likely) benign	1 lab	3b726d75e2
14:88459427 GALC C>T	14	88459427	88459427	C	T	GALC	c.82G>A	NM_000153.3	NP_000144.2:p.(Ala28Thr)	NC_000014.8:g.88459427C>T	(Likely) benign	1 lab	3b735ccf63
9:133954693 LAMC3 C>G	9	133954693	133954693	C	G	LAMC3	c.3927+8C>G	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133954693C>G	(Likely) benign	1 lab	3b736ada57
1:16459787 EPHA2 C>A	1	16459787	16459787	C	A	EPHA2	c.1941G>T	NM_004431.4	NP_004422.2:p.(Thr647=)	NC_000001.10:g.16459787C>A	(Likely) benign	1 lab	3b73941c9e
17:57126683 TRIM37 G>T	17	57126683	57126683	G	T	TRIM37	c.1386C>A	NM_015294.6	NP_056109.1:p.(Pro462=)	NC_000017.10:g.57126683G>T	(Likely) benign	1 lab	3b75976196
X:153132303 L1CAM G>A	X	153132303	153132303	G	A	L1CAM	c.2232C>T	NM_001278116.1	NP_001265045.1:p.(Asn744=)	NC_000023.10:g.153132303G>A	(Likely) benign	1 lab	3b7606dd4c
11:47358999 MYBPC3 C>T	11	47358999	47358999	C	T	MYBPC3	c.2545G>A	NM_000256.3	NP_000247.2:p.(Val849Ile)	NC_000011.9:g.47358999C>T	VUS	1 lab	3b77498177
6:74320205 SLC17A5 C>T	6	74320205	74320205	C	T	SLC17A5	c.1177G>A	NM_012434.4	NP_036566.1:p.(Val393Ile)	NC_000006.11:g.74320205C>T	VUS	1 lab	3b77bf743f
6:152527444 SYNE1 C>T	6	152527444	152527444	C	T	SYNE1	c.22878G>A	NM_182961.3	NP_892006.3:p.(Glu7626=)	NC_000006.11:g.152527444C>T	(Likely) benign	1 lab	3b782b97f2
10:105893436 CFAP43 T>G	10	105893436	105893436	T	G	CFAP43	c.4538A>C	NM_025145.6	NP_079421.5:p.(Asp1513Ala)	NC_000010.10:g.105893436T>G	VUS	1 lab	3b7866bc1a
16:89351591 ANKRD11 TTTA>T	16	89351591	89351596	TTTA	T	ANKRD11	c.1356_1358del	NM_013275.6	NP_037407.4:p.(Asn452del)	NC_000016.9:g.89351594_89351596del	VUS	1 lab	3b792f7b3e
11:45832389 SLC35C1 G>A	11	45832389	45832389	G	A	SLC35C1	c.598G>A	NM_018389.4	NP_060859.4:p.(Val200Ile)	NC_000011.9:g.45832389G>A	(Likely) benign	1 lab	3b79a090c9
2:179427537 TTN G>A	2	179427537	179427537	G	A	TTN	c.83322C>T	NM_001267550.2	NP_001254479.2:p.(Thr27774=)	NC_000002.11:g.179427537G>A	(Likely) benign	1 lab	ebc36a0e27
11:6661166 DCHS1 G>A	11	6661166	6661166	G	A	DCHS1				NC_000011.9:g.6661166G>A	VUS	1 lab	3b7ad180c5
X:76849299 ATRX TAGA>T	X	76849299	76849310	TAGA	T	ATRX	c.5974_5976del	NM_000489.6	NP_000480.3:p.(Ser1992del)	NC_000023.10:g.76849308_76849310del	(Likely) benign	1 lab	3b7e6b7fae
20:23029053 THBD C>A	20	23029053	23029053	C	A	THBD	c.1089G>T	NM_000361.2	NP_000352.1:p.(Val363=)	NC_000020.10:g.23029053C>A	(Likely) benign	1 lab	3b7f38b56a
15:28456295 HERC2 C>T	15	28456295	28456295	C	T	HERC2	c.6926-4G>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28456295C>T	(Likely) benign	1 lab	3b7f783dfd
13:26043251 ATP8A2 C>T	13	26043251	26043251	C	T	ATP8A2	c.213C>T	NM_016529.5	NP_057613.4:p.(Asn71=)	NC_000013.10:g.26043251C>T	(Likely) benign	1 lab	3b809f0e1b
9:88655671 GOLM1 T>C	9	88655671	88655671	T	C	GOLM1	c.580A>G	NM_016548.4	NP_057632.2:p.(Asn194Asp)	NC_000009.11:g.88655671T>C	(Likely) benign	1 lab	3b80c53f93
8:10470054 RP1L1 G>A	8	10470054	10470054	G	A	RP1L1	c.1554C>T	NM_178857.5	NP_849188.4:p.(Gly518=)	NC_000008.10:g.10470054G>A	VUS	1 lab	3b83519166
11:2906455 CDKN1C C>T	11	2906455	2906455	C	T	CDKN1C	c.265G>A	NM_000076.2	NP_000067.1:p.(Ala89Thr)	NC_000011.9:g.2906455C>T	VUS	1 lab	3b84865511
3:14199909 XPC G>A	3	14199909	14199909	G	A	XPC	c.1474C>T	NM_004628.4	NP_004619.3:p.(Arg492Cys)	NC_000003.11:g.14199909G>A	VUS	1 lab	3b84d6b8e7
22:30069406 NF2 G>A	22	30069406	30069406	G	A	NF2	c.1271G>A	NM_000268.3	NP_000259.1:p.(Arg424His)	NC_000022.10:g.30069406G>A	(Likely) benign	1 lab	3b85af7c6b
17:41244125 BRCA1 A>G	17	41244125	41244125	A	G	BRCA1	c.3423T>C	NM_007294.3	NP_009225.1:p.(His1141=)	NC_000017.10:g.41244125A>G	(Likely) benign	1 lab	3b88c70a2a
7:128488853 FLNC G>A	7	128488853	128488853	G	A	FLNC	c.4744G>A	NM_001458.4	NP_001449.3:p.(Glu1582Lys)	NC_000007.13:g.128488853G>A	VUS	1 lab	3b89594218
X:44919310 KDM6A C>T	X	44919310	44919310	C	T	KDM6A	c.1238C>T	NM_021140.4	NP_066963.2:p.(Thr413Ile)	NC_000023.10:g.44919310C>T	VUS	1 lab	ebc85a7333
19:56172518 U2AF2 G>A	19	56172518	56172518	G	A	U2AF2	c.449G>A	NM_007279.2	NP_009210.1:p.(Arg150His)	NC_000019.9:g.56172518G>A	VUS	1 lab	3b8aa9fea0
2:122288505 RNU4ATAC G>A	2	122288505	122288505	G	A	RNU4ATAC	n.50G>A	NR_023343.1		NC_000002.11:g.122288505G>A	(Likely) pathogenic	1 lab	3b8ab77f40
7:73472032 ELN T>TC	7	73472032	73472037	T	TC	ELN	c.1501+11dup	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73472037dup	(Likely) benign	1 lab	3b8d6c7416
21:47836206 PCNT A>C	21	47836206	47836206	A	C	PCNT	c.6374A>C	NM_006031.5	NP_006022.3:p.(His2125Pro)	NC_000021.8:g.47836206A>C	(Likely) benign	1 lab	3b8da3a2d2
3:191098731 CCDC50 G>A	3	191098731	191098731	G	A	CCDC50	c.1242+10G>A	NM_178335.3	NP_848018.1:p.?	NC_000003.11:g.191098731G>A	(Likely) benign	1 lab	ebc8675b6e
7:117232155 CFTR T>A	7	117232155	117232155	T	A	CFTR	c.1934T>A	NM_000492.4	NP_000483.3:p.(Met645Lys)	NC_000007.13:g.117232155T>A	VUS	1 lab	ebc86b3913
X:15343190 PIGA A>G	X	15343190	15343190	A	G	PIGA	c.933T>C	NM_002641.3	NP_002632.1:p.(Thr311=)	NC_000023.10:g.15343190A>G	(Likely) benign	1 lab	3b8ee8dba9
14:102508427 DYNC1H1 C>T	14	102508427	102508427	C	T	DYNC1H1	c.12180C>T	NM_001376.4	NP_001367.2:p.(Ala4060=)	NC_000014.8:g.102508427C>T	(Likely) benign	1 lab	3b9379fe1a
17:3717684 NCBP3 T>C	17	3717684	3717684	T	C	NCBP3	c.1559A>G	NM_001114118.3	NP_001107590.1:p.(His520Arg)	NC_000017.10:g.3717684T>C	VUS	1 lab	3b95a73f92
14:105413036 AHNAK2 C>T	14	105413036	105413036	C	T	AHNAK2	c.8752G>A	NM_138420.3	NP_612429.2:p.(Val2918Ile)	NC_000014.8:g.105413036C>T	(Likely) benign	1 lab	3b95ff72b8
8:145006301 PLEC C>T	8	145006301	145006301	C	T	PLEC	c.2490G>A	NM_201380.3	NP_958782.1:p.(Val830=)	NC_000008.10:g.145006301C>T	(Likely) benign	1 lab	3b960a8668
10:55568527 PCDH15 C>T	10	55568527	55568527	C	T	PCDH15	c.5298G>A	NM_001142769.2	NP_001136241.1:p.(Ala1766=)	NC_000010.10:g.55568527C>T	(Likely) benign	1 lab	3b97b83349
3:15677070 BTD G>A	3	15677070	15677070	G	A	BTD	c.184G>A	NM_000060.4	NP_000051.1:p.(Val62Met)	NC_000003.11:g.15677070G>A	(Likely) pathogenic	1 lab	3b99725547
1:6512115 ESPN A>T	1	6512115	6512115	A	T	ESPN	c.2284A>T	NM_031475.3	NP_113663.2:p.(Met762Leu)	NC_000001.10:g.6512115A>T	(Likely) benign	1 lab	3b9a0fdc9d
18:47777969 CFAP53 G>T	18	47777969	47777969	G	T	CFAP53	c.659C>A	NM_145020.4	NP_659457.2:p.(Ala220Glu)	NC_000018.9:g.47777969G>T	(Likely) benign	1 lab	3b9b1d064d
10:105815573 COL17A1 C>A	10	105815573	105815573	C	A	COL17A1	c.1654G>T	NM_000494.4	NP_000485.3:p.(Val552Leu)	NC_000010.10:g.105815573C>A	(Likely) benign	1 lab	3b9b9f152d
6:116600160 TSPYL1 G>A	6	116600160	116600160	G	A	TSPYL1	c.834C>T	NM_003309.3	NP_003300.1:p.(Phe278=)	NC_000006.11:g.116600160G>A	(Likely) benign	1 lab	3b9d24f710
11:6662023 DCHS1 G>A	11	6662023	6662023	G	A	DCHS1				NC_000011.9:g.6662023G>A	(Likely) benign	1 lab	3b9d483a1b
14:23857502 MYH6 C>T	14	23857502	23857502	C	T	MYH6	c.4221G>A	NM_002471.3	NP_002462.2:p.(Glu1407=)	NC_000014.8:g.23857502C>T	(Likely) benign	1 lab	3b9e1b35bf
2:27601152 ZNF513 C>T	2	27601152	27601152	C	T	ZNF513	c.886G>A	NM_144631.5	NP_653232.3:p.(Gly296Arg)	NC_000002.11:g.27601152C>T	VUS	1 lab	3b9f28d2fe
9:104433132 GRIN3A A>G	9	104433132	104433132	A	G	GRIN3A	c.1562T>C	NM_133445.2	NP_597702.2:p.(Ile521Thr)	NC_000009.11:g.104433132A>G	VUS	1 lab	3b9fd02922
1:35577714 ZMYM1 G>A	1	35577714	35577714	G	A	ZMYM1	c.1129G>A	NM_001289088.1	NP_001276017.1:p.(Ala377Thr)	NC_000001.10:g.35577714G>A	(Likely) benign	1 lab	3b9fde8311
12:31249860 DDX11 C>T	12	31249860	31249860	C	T	DDX11	c.1698C>T	NM_030653.3	NP_085911.2:p.(Ile566=)	NC_000012.11:g.31249860C>T	(Likely) benign	1 lab	3ba0c491b1
15:89859986 POLG G>C	15	89859986	89859986	G	C	POLG	c.3716C>G	NM_002693.2	NP_002684.1:p.(Pro1239Arg)	NC_000015.9:g.89859986G>C	(Likely) benign	1 lab	3ba0f5e81c
16:66944188 CDH16 C>T	16	66944188	66944188	C	T	CDH16	c.2076G>A	NM_001204744.1	NP_001191673.1:p.(Arg692=)	NC_000016.9:g.66944188C>T	(Likely) benign	1 lab	3ba139459b
9:123776231 C5 T>C	9	123776231	123776231	T	C	C5	c.2195A>G	NM_001317163.1	NP_001304092.1:p.(Lys732Arg)	NC_000009.11:g.123776231T>C	(Likely) benign	1 lab	3ba1e1f1a6
6:51720792 PKHD1 G>A	6	51720792	51720792	G	A	PKHD1	c.7810C>T	NM_138694.3	NP_619639.3:p.(Arg2604Cys)	NC_000006.11:g.51720792G>A	(Likely) benign	1 lab	3ba393b02e
7:117180186 CFTR A>G	7	117180186	117180186	A	G	CFTR	c.902A>G	NM_000492.3	NP_000483.3:p.(Tyr301Cys)	NC_000007.13:g.117180186A>G	VUS	1 lab	3ba3c02ddd
X:53438792 SMC1A C>T	X	53438792	53438792	C	T	SMC1A	c.1107G>A	NM_001281463.1	NP_001268392.1:p.(Gln369=)	NC_000023.10:g.53438792C>T	(Likely) benign	1 lab	3ba3e583dd
3:159998567 IFT80 A>G	3	159998567	159998567	A	G	IFT80	c.1141T>C	NM_001190241.1	NP_001177170.1:p.(Cys381Arg)	NC_000003.11:g.159998567A>G	VUS	1 lab	3ba40406a0
12:335649 SLC6A13 C>T	12	335649	335649	C	T	SLC6A13	c.967G>A	NM_016615.5	NP_057699.2:p.(Gly323Ser)	NC_000012.11:g.335649C>T	(Likely) benign	1 lab	3ba4b61467
6:119150363 MCM9 G>A	6	119150363	119150363	G	A	MCM9	c.1376C>T	NM_017696.2	NP_060166.2:p.(Pro459Leu)	NC_000006.11:g.119150363G>A	VUS	1 lab	3ba4dd5c90
2:179594422 TTN C>T	2	179594422	179594422	C	T	TTN	c.18558G>A	NM_001267550.1	NP_001254479.1:p.(Thr6186=)	NC_000002.11:g.179594422C>T	(Likely) benign	1 lab	3ba5867a57
11:65325325 LTBP3 C>CCAGCAGCAGCAGCAG	11	65325325	65325356	C	CCAGCAGCAGCAGCAG	LTBP3	c.91_105dup	NM_001130144.2	NP_001123616.1:p.(Leu31_Leu35dup)	NC_000011.9:g.65325342_65325356dup	VUS	1 lab	3ba7b769eb
1:3331216 PRDM16 G>A	1	3331216	3331216	G	A	PRDM16	c.2691+5G>A	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3331216G>A	(Likely) benign	1 lab	3ba7d7d13c
17:78155272 CARD14 C>T	17	78155272	78155272	C	T	CARD14	c.35C>T	NM_024110.4	NP_077015.2:p.(Thr12Met)	NC_000017.10:g.78155272C>T	(Likely) benign	1 lab	3ba8943d2e
20:376921 TRIB3 T>C	20	376921	376921	T	C	TRIB3	c.664T>C	NM_021158.4	NP_066981.2:p.(Cys222Arg)	NC_000020.10:g.376921T>C	VUS	1 lab	3ba9af591d
2:182413278 CERKL T>G	2	182413278	182413278	T	G	CERKL	c.1205A>C	NM_001030311.2	NP_001025482.1:p.(Gln402Pro)	NC_000002.11:g.182413278T>G	(Likely) benign	1 lab	3ba9e05bb1
10:86014110 RGR TCCTTCTTCAACTTCGCCATGC>T	10	86014110	86014133	TCCTTCTTCAACTTCGCCATGC	T	RGR	c.544_564del	NM_001012720.2	NP_001012738.1:p.(Phe182_Pro188del)	NC_000010.10:g.86014113_86014133del	VUS	1 lab	3baa6e5687
17:1558750 PRPF8 T>C	17	1558750	1558750	T	C	PRPF8	c.5881A>G	NM_006445.3	NP_006436.3:p.(Ile1961Val)	NC_000017.10:g.1558750T>C	(Likely) benign	1 lab	3bab5ee3dd
22:31011610 TCN2 G>C	22	31011610	31011610	G	C	TCN2	c.776G>C	NM_000355.4	NP_000346.2:p.(Arg259Pro)	NC_000022.10:g.31011610G>C	(Likely) benign	1 lab	ebcd796e85
16:601409 CAPN15 G>A	16	601409	601409	G	A	CAPN15	c.2174G>A	NM_005632.3	NP_005623.1:p.(Arg725Gln)	NC_000016.9:g.601409G>A	VUS	1 lab	3baf5285ad
13:31858866 B3GLCT C>T	13	31858866	31858866	C	T	B3GLCT	c.932C>T	NM_194318.3	NP_919299.3:p.(Thr311Ile)	NC_000013.10:g.31858866C>T	VUS	1 lab	3baf87e726
10:112541068 RBM20 C>T	10	112541068	112541068	C	T	RBM20	c.701C>T	NM_001134363.1	NP_001127835.1:p.(Ala234Val)	NC_000010.10:g.112541068C>T	VUS	1 lab	3baf935800
X:153689942 PLXNA3 C>T	X	153689942	153689942	C	T	PLXNA3	c.1098C>T	NM_017514.4	NP_059984.3:p.(Pro366=)	NC_000023.10:g.153689942C>T	(Likely) benign	1 lab	3bb0b774f0
1:3348515 PRDM16 C>T	1	3348515	3348515	C	T	PRDM16	c.3522-15C>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3348515C>T	(Likely) benign	1 lab	3bb10bd7e4
14:71051554 MED6 A>G	14	71051554	71051554	A	G	MED6	c.738T>C	NM_001284209.1	NP_001271138.1:p.(Pro246=)	NC_000014.8:g.71051554A>G	(Likely) benign	1 lab	3bb1316314
15:40913591 KNL1 A>G	15	40913591	40913591	A	G	KNL1	c.1207A>G	NM_170589.4	NP_733468.3:p.(Ile403Val)	NC_000015.9:g.40913591A>G	(Likely) benign	1 lab	3bb404eb39
12:57111943 NACA C>T	12	57111943	57111943	C	T	NACA	c.3371G>A	NM_001365896.1	NP_001352825.1:p.(Gly1124Glu)	NC_000012.11:g.57111943C>T	(Likely) benign	1 lab	3bb4fb225a
12:53007550 KRT73 G>A	12	53007550	53007550	G	A	KRT73	c.906C>T	NM_175068.2	NP_778238.1:p.(Ile302=)	NC_000012.11:g.53007550G>A	(Likely) benign	1 lab	3bb509f547
16:57787362 KATNB1 C>T	16	57787362	57787362	C	T	KATNB1	c.1108C>T	NM_005886.2	NP_005877.2:p.(Arg370Cys)	NC_000016.9:g.57787362C>T	VUS	1 lab	3bb59436f0
19:5219413 PTPRS C>T	19	5219413	5219413	C	T	PTPRS	c.3831G>A	NM_002850.3	NP_002841.3:p.(Val1277=)	NC_000019.9:g.5219413C>T	(Likely) benign	1 lab	3bb6dc26f9
X:149639649 MAMLD1 C>A	X	149639649	149639649	C	A	MAMLD1	c.1804C>A	NM_005491.4	NP_005482.2:p.(Gln602Lys)	NC_000023.10:g.149639649C>A	(Likely) benign	1 lab	3bb7419ae6
8:59764361 TOX G>A	8	59764361	59764361	G	A	TOX	c.415C>T	NM_014729.2	NP_055544.1:p.(Pro139Ser)	NC_000008.10:g.59764361G>A	(Likely) benign	1 lab	3bb932318d
X:153741198 FAM3A G>A	X	153741198	153741198	G	A	FAM3A	c.20C>T	NM_001282311.1	NP_001269240.1:p.(Pro7Leu)	NC_000023.10:g.153741198G>A	(Likely) benign	1 lab	3bbc25f237
11:1278864 MUC5B G>A	11	1278864	1278864	G	A	MUC5B	c.16374G>A	NM_002458.2	NP_002449.2:p.(Pro5458=)	NC_000011.9:g.1278864G>A	(Likely) benign	1 lab	3bbe15b5a5
9:140919592 CACNA1B C>T	9	140919592	140919592	C	T	CACNA1B	c.3254C>T	NM_000718.3	NP_000709.1:p.(Thr1085Met)	NC_000009.11:g.140919592C>T	VUS	1 lab	3bbe184532
3:155546001 SLC33A1 A>C	3	155546001	155546001	A	C	SLC33A1	c.1648T>G	NM_004733.3	NP_004724.1:p.(Ter550GluextTer8)	NC_000003.11:g.155546001A>C	VUS	1 lab	3bbe27e122
6:29910420 HLA-A GA>G	6	29910420	29910421	GA	G	HLA-A	c.73+18del	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910421del	(Likely) benign	1 lab	ebd26cda2c
16:69727194 NFAT5 A>G	16	69727194	69727194	A	G	NFAT5	c.3184A>G	NM_138714.3	NP_619728.2:p.(Thr1062Ala)	NC_000016.9:g.69727194A>G	(Likely) benign	1 lab	3bbe70b90f
1:213031843 FLVCR1 C>G	1	213031843	213031843	C	G	FLVCR1	c.49C>G	NM_014053.3	NP_054772.1:p.(Pro17Ala)	NC_000001.10:g.213031843C>G	(Likely) benign	1 lab	3bbe8d9500
6:54805247 SACK1B G>A	6	54805247	54805247	G	A	SACK1B	c.1478G>A	NM_001010872.3	NP_001010872.1:p.(Arg493His)	NC_000006.11:g.54805247G>A	VUS	1 lab	3bc0645ccc
19:7505185 ARHGEF18 C>T	19	7505185	7505185	C	T	ARHGEF18	c.197C>T	NM_001130955.2	NP_001124427.2:p.(Pro66Leu)	NC_000019.9:g.7505185C>T	VUS	1 lab	3bc35cfbf7
5:178413311 GRM6 C>A	5	178413311	178413311	C	A	GRM6	c.1944G>T	NM_000843.4	NP_000834.2:p.(Ala648=)	NC_000005.9:g.178413311C>A	(Likely) benign	1 lab	3bc7718eb8
10:68526056 CTNNA3 G>A	10	68526056	68526056	G	A	CTNNA3	c.1247C>T	NM_013266.3	NP_037398.2:p.(Ala416Val)	NC_000010.10:g.68526056G>A	VUS	1 lab	3bc7cd7d34
X:47063095 UBA1 G>A	X	47063095	47063095	G	A	UBA1	c.1575G>A	NM_003334.4	NP_003325.2:p.(Thr525=)	NC_000023.10:g.47063095G>A	VUS	1 lab	3bc81650f9
15:62148607 VPS13C G>A	15	62148607	62148607	G	A	VPS13C	c.10954C>T	NM_020821.2	NP_065872.1:p.(Arg3652Ter)	NC_000015.9:g.62148607G>A	(Likely) pathogenic	1 lab	3bc8cf57bd
9:101542529 ANKS6 G>A	9	101542529	101542529	G	A	ANKS6	c.1310C>T	NM_173551.4	NP_775822.3:p.(Ser437Leu)	NC_000009.11:g.101542529G>A	VUS	1 lab	3bc9fd7c1a
X:57162646 SPIN2A T>G	X	57162646	57162646	T	G	SPIN2A	c.385A>C	NM_019003.3	NP_061876.3:p.(Ile129Leu)	NC_000023.10:g.57162646T>G	VUS	1 lab	3bca002659
4:520973 PIGG G>A	4	520973	520973	G	A	PIGG	c.2215G>A	NM_001127178.2	NP_001120650.1:p.(Gly739Arg)	NC_000004.11:g.520973G>A	VUS	1 lab	3bcb4f1fab
10:73206086 CDH23 C>T	10	73206086	73206086	C	T	CDH23	c.79C>T	NM_022124.5	NP_071407.4:p.(Arg27Trp)	NC_000010.10:g.73206086C>T	VUS	1 lab	3bcbb48860
2:179528144 TTN ACAA>CCAT	2	179528144	179528147	ACAA	CCAT	TTN	c.36616+13_36616+16delinsATGG	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179528144_179528147delinsCCAT	(Likely) benign	1 lab	3bcc401d5d
2:48032767 MSH6 A>AT	2	48032767	48032773	A	AT	MSH6	c.3573dup	NM_000179.3	NP_000170.1:p.(Val1192CysfsTer2)	NC_000002.11:g.48032773dup	(Likely) pathogenic	1 lab	ebd7e2951c
6:42931332 GNMT C>T	6	42931332	42931332	C	T	GNMT	c.776C>T	NM_018960.5	NP_061833.1:p.(Ala259Val)	NC_000006.11:g.42931332C>T	(Likely) benign	1 lab	3bcc4a4a02
5:125929000 ALDH7A1 A>AAC	5	125929000	125929036	A	AAC	ALDH7A1	c.246+41_246+42dup	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125929035_125929036dup	(Likely) benign	1 lab	ebd9297c29
18:19399501 MIB1 C>T	18	19399501	19399501	C	T	MIB1	c.1723C>T	NM_020774.4	NP_065825.1:p.(Arg575Cys)	NC_000018.9:g.19399501C>T	VUS	1 lab	ebdad23605
9:130255104 LRSAM1 G>A	9	130255104	130255104	G	A	LRSAM1	c.1527G>A	NM_138361.5	NP_612370.3:p.(Trp509Ter)	NC_000009.11:g.130255104G>A	(Likely) pathogenic	1 lab	3bd1507a46
11:66458801 SPTBN2 C>T	11	66458801	66458801	C	T	SPTBN2	c.5519G>A	NM_006946.4	NP_008877.2:p.(Arg1840His)	NC_000011.9:g.66458801C>T	VUS	1 lab	ebe3434366
19:1048983 ABCA7 C>G	19	1048983	1048983	C	G	ABCA7	c.2359C>G	NM_019112.3	NP_061985.2:p.(Pro787Ala)	NC_000019.9:g.1048983C>G	(Likely) benign	1 lab	3bd24ac10b
22:51153434 SHANK3 C>CA	22	51153434	51153435	C	CA	SHANK3	c.2450dup	NM_001372044.2	NP_001358973.1:p.(Arg818GlufsTer13)	NC_000022.10:g.51153435dup	(Likely) pathogenic	1 lab	ebe355bfa8
2:72371243 CYP26B1 C>A	2	72371243	72371243	C	A	CYP26B1	c.304G>T	NM_019885.3	NP_063938.1:p.(Val102Leu)	NC_000002.11:g.72371243C>A	(Likely) benign	1 lab	3bd59f05d0
10:55581731 PCDH15 A>T	10	55581731	55581731	A	T	PCDH15	c.5776T>A	NM_001142763.1	NP_001136235.1:p.(Cys1926Ser)	NC_000010.10:g.55581731A>T	(Likely) benign	1 lab	3bd5a659d0
9:134397594 POMT1 C>T	9	134397594	134397594	C	T	POMT1	c.2052C>T	NM_007171.4	NP_009102.4:p.(Ile684=)	NC_000009.11:g.134397594C>T	(Likely) benign	1 lab	ebe46bd390
2:240951071 NDUFA10 C>T	2	240951071	240951071	C	T	NDUFA10	c.712G>A	NM_004544.3	NP_004535.1:p.(Glu238Lys)	NC_000002.11:g.240951071C>T	VUS	1 lab	3bd661d7fd
17:11520796 DNAH9 A>G	17	11520796	11520796	A	G	DNAH9	c.973A>G	NM_001372.3	NP_001363.2:p.(Asn325Asp)	NC_000017.10:g.11520796A>G	(Likely) benign	1 lab	3bd7977005
17:17927990 ATPAF2 C>T	17	17927990	17927990	C	T	ATPAF2	c.451G>A	NM_145691.3	NP_663729.1:p.(Val151Met)	NC_000017.10:g.17927990C>T	VUS	1 lab	3bd971941b
9:135772950 TSC1 G>GT	9	135772950	135772957	G	GT	TSC1	c.2672dup	NM_000368.4	NP_000359.1:p.(Asn891LysfsTer13)	NC_000009.11:g.135772957dup	(Likely) pathogenic	1 lab	3bdc566588
16:89613083 SPG7 T>C	16	89613083	89613083	T	C	SPG7	c.1467T>C	NM_003119.3	NP_003110.1:p.(Phe489=)	NC_000016.9:g.89613083T>C	(Likely) benign	1 lab	3bdd522d9b
5:156672939 ITK G>A	5	156672939	156672939	G	A	ITK	c.1563G>A	NM_005546.3	NP_005537.3:p.(Pro521=)	NC_000005.9:g.156672939G>A	(Likely) benign	1 lab	3be006de2b
16:23457290 COG7 TA>T	16	23457290	23457307	TA	T	COG7	c.170-9del	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23457307del	(Likely) benign	1 lab	3be22f633b
X:67417116 OPHN1 A>G	X	67417116	67417116	A	G	OPHN1	c.1026-10T>C	NM_002547.2	NP_002538.1:p.?	NC_000023.10:g.67417116A>G	(Likely) benign	1 lab	3be24cef45
11:73022118 ARHGEF17 G>A	11	73022118	73022118	G	A	ARHGEF17	c.2435G>A	NM_014786.3	NP_055601.2:p.(Arg812His)	NC_000011.9:g.73022118G>A	(Likely) benign	1 lab	3be2e04c1d
X:38129049 RPGR T>A	X	38129049	38129049	T	A	RPGR	c.2278A>T	NM_000328.2	NP_000319.1:p.(Lys760Ter)	NC_000023.10:g.38129049T>A	VUS	1 lab	3be57c63a0
14:68270908 ZFYVE26 GGA>G	14	68270908	68270913	GGA	G	ZFYVE26	c.1343_1344del	NM_015346.4	NP_056161.2:p.(Leu448ProfsTer31)	NC_000014.8:g.68270912_68270913del	(Likely) pathogenic	1 lab	3be6830294
X:69712424 DLG3 C>T	X	69712424	69712424	C	T	DLG3	c.1751C>T	NM_021120.3	NP_066943.2:p.(Thr584Met)	NC_000023.10:g.69712424C>T	VUS	1 lab	3be6e02680
X:153216921 HCFC1 G>T	X	153216921	153216921	G	T	HCFC1	c.5397C>A	NM_005334.2	NP_005325.2:p.(Pro1799=)	NC_000023.10:g.153216921G>T	(Likely) benign	1 lab	3be71c7319
8:61655414 CHD7 A>T	8	61655414	61655414	A	T	CHD7				NC_000008.10:g.61655414A>T	(Likely) benign	1 lab	3be72bac63
2:26483897 HADHB G>T	2	26483897	26483897	G	T	HADHB	c.9G>T	NM_001281513.1	NP_001268442.1:p.(Leu3=)	NC_000002.11:g.26483897G>T	(Likely) benign	1 lab	3be811472d
16:14704674 PARN C>T	16	14704674	14704674	C	T	PARN	c.389-8G>A	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14704674C>T	(Likely) benign	1 lab	3be8c57362
14:92537396 ATXN3 GT>G	14	92537396	92537397	GT	G	ATXN3	c.873del	NM_004993.6	NP_004984.2:p.(Lys291AsnfsTer40)	NC_000014.8:g.92537397del	(Likely) benign	1 lab	3be9ff0422
17:76425235 DNAH17 G>A	17	76425235	76425235	G	A	DNAH17	c.12372C>T	NM_173628.3	NP_775899.3:p.(Pro4124=)	NC_000017.10:g.76425235G>A	(Likely) benign	1 lab	3bebd35ebc
14:51094873 ATL1 G>A	14	51094873	51094873	G	A	ATL1	c.1244G>A	NM_001127713.1	NP_001121185.1:p.(Arg415Gln)	NC_000014.8:g.51094873G>A	(Likely) benign	1 lab	3bec7fec78
3:123456420 MYLK T>A	3	123456420	123456420	T	A	MYLK	c.589-30A>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123456420T>A	(Likely) benign	1 lab	3bec947158
17:36483181 GPR179 G>T	17	36483181	36483181	G	T	GPR179	c.6271C>A	NM_001004334.3	NP_001004334.3:p.(Pro2091Thr)	NC_000017.10:g.36483181G>T	(Likely) benign	1 lab	3bee3d9b26
6:56485396 DST T>C	6	56485396	56485396	T	C	DST	c.3436A>G	NM_001723.7	NP_001714.1:p.(Met1146Val)	NC_000006.11:g.56485396T>C	VUS	1 lab	384ed1e506
7:5428584 TNRC18 C>T	7	5428584	5428584	C	T	TNRC18	c.871G>A	NM_001080495.2	NP_001073964.2:p.(Val291Met)	NC_000007.13:g.5428584C>T	(Likely) benign	1 lab	3bf0107742
14:24626754 RNF31 C>T	14	24626754	24626754	C	T	RNF31	c.2634C>T	NM_017999.5	NP_060469.4:p.(Tyr878=)	NC_000014.8:g.24626754C>T	(Likely) benign	1 lab	3bf18ae429
16:2546374 TBC1D24 C>T	16	2546374	2546374	C	T	TBC1D24	c.225C>T	NM_001199107.1	NP_001186036.1:p.(Ser75=)	NC_000016.9:g.2546374C>T	(Likely) benign	1 lab	3bf4e0bda5
19:45924468 ERCC1 T>C	19	45924468	45924468	T	C	ERCC1	c.289A>G	NM_001983.3	NP_001974.1:p.(Lys97Glu)	NC_000019.9:g.45924468T>C	(Likely) benign	1 lab	3bf500beee
14:91780176 CCDC88C C>T	14	91780176	91780176	C	T	CCDC88C	c.1984G>A	NM_001080414.3	NP_001073883.2:p.(Glu662Lys)	NC_000014.8:g.91780176C>T	(Likely) benign	1 lab	3bf66655bf
10:102783751 PDZD7 C>T	10	102783751	102783751	C	T	PDZD7	c.301G>A	NM_001195263.1	NP_001182192.1:p.(Val101Met)	NC_000010.10:g.102783751C>T	VUS	1 lab	3bf6b628f0
3:191087752 CCDC50 A>G	3	191087752	191087752	A	G	CCDC50	c.375A>G	NM_178335.2	NP_848018.1:p.(Lys125=)	NC_000003.11:g.191087752A>G	(Likely) benign	1 lab	3bf7f62ae5
5:73153552 ARHGEF28 G>A	5	73153552	73153552	G	A	ARHGEF28	c.1862G>A	NM_001080479.2	NP_001073948.2:p.(Arg621Gln)	NC_000005.9:g.73153552G>A	VUS	1 lab	3bf8f4ad48
5:149509462 PDGFRB G>A	5	149509462	149509462	G	A	PDGFRB	c.1437C>T	NM_002609.3	NP_002600.1:p.(Asn479=)	NC_000005.9:g.149509462G>A	(Likely) benign	1 lab	3bfa978b99
X:153760968 G6PD G>A	X	153760968	153760968	G	A	G6PD	c.1191C>T	NM_000402.4	NP_000393.4:p.(Ala397=)	NC_000023.10:g.153760968G>A	(Likely) benign	1 lab	3bfb7d93c6
X:153577836 FLNA C>T	X	153577836	153577836	C	T	FLNA	c.7650G>A	NM_001110556.2	NP_001104026.1:p.(Pro2550=)	NC_000023.10:g.153577836C>T	(Likely) benign	1 lab	3bff6db7c7
X:18924888 PHKA2 C>G	X	18924888	18924888	C	G	PHKA2	c.2642G>C	NM_000292.3	NP_000283.1:p.(Ser881Thr)	NC_000023.10:g.18924888C>G	VUS	1 lab	ebe9d288b3
9:37782021 EXOSC3 A>G	9	37782021	37782021	A	G	EXOSC3	c.588T>C	NM_016042.3	NP_057126.2:p.(Asp196=)	NC_000009.11:g.37782021A>G	(Likely) benign	1 lab	3c0123b88b
6:144747451 UTRN C>T	6	144747451	144747451	C	T	UTRN	c.434C>T	NM_007124.2	NP_009055.2:p.(Ser145Leu)	NC_000006.11:g.144747451C>T	(Likely) benign	1 lab	3c016df4d0
3:62358041 FEZF2 G>T	3	62358041	62358041	G	T	FEZF2	c.503C>A	NM_018008.3	NP_060478.3:p.(Ser168Ter)	NC_000003.11:g.62358041G>T	VUS	1 lab	3c02b5deed
7:73477988 ELN C>T	7	73477988	73477988	C	T	ELN	c.2142C>T	NM_001278939.1	NP_001265868.1:p.(Val714=)	NC_000007.13:g.73477988C>T	(Likely) benign	1 lab	3c02e2d469
20:10626717 JAG1 TCA>T	20	10626717	10626721	TCA	T	JAG1	c.1899_1900del	NM_000214.3	NP_000205.1:p.(Cys633Ter)	NC_000020.10:g.10626720_10626721del	(Likely) pathogenic	1 lab	3c03142805
19:45515204 RELB C>T	19	45515204	45515204	C	T	RELB	c.174C>T	NM_006509.4	NP_006500.2:p.(Asp58=)	NC_000019.9:g.45515204C>T	(Likely) benign	1 lab	3c0319c40d
X:53566745 HUWE1 C>T	X	53566745	53566745	C	T	HUWE1	c.11505G>A	NM_031407.6	NP_113584.3:p.(Lys3835=)	NC_000023.10:g.53566745C>T	(Likely) benign	1 lab	3c03287bbf
10:27408353 YME1L1 T>G	10	27408353	27408353	T	G	YME1L1	c.1608A>C	NM_139312.2	NP_647473.1:p.(Arg536=)	NC_000010.10:g.27408353T>G	(Likely) benign	1 lab	3c037973f0
2:110323339 SEPTIN10 C>A	2	110323339	110323339	C	A	SEPTIN10	c.832+1G>T	NM_001321513.1	NP_001308442.1:p.?	NC_000002.11:g.110323339C>A	VUS	1 lab	3c05d6884d
14:64634308 SYNE2 A>G	14	64634308	64634308	A	G	SYNE2	c.16856A>G	NM_182914.2	NP_878918.2:p.(Asp5619Gly)	NC_000014.8:g.64634308A>G	VUS	1 lab	3c06246d79
19:38843063 CATSPERG C>A	19	38843063	38843063	C	A	CATSPERG	c.988C>A	NM_021185.5	NP_067008.3:p.(Arg330Ser)	NC_000019.9:g.38843063C>A	VUS	1 lab	3c06416683
X:152018838 NSDHL T>C	X	152018838	152018838	T	C	NSDHL	c.138T>C	NM_015922.3	NP_057006.1:p.(Ser46=)	NC_000023.10:g.152018838T>C	(Likely) benign	1 lab	3c06d2870f
9:71842792 TJP2 A>G	9	71842792	71842792	A	G	TJP2	c.1319+3A>G	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71842792A>G	(Likely) benign	1 lab	3c072c46e2
13:23913713 SACS T>C	13	23913713	23913713	T	C	SACS	c.4302A>G	NM_014363.5	NP_055178.3:p.(Leu1434=)	NC_000013.10:g.23913713T>C	(Likely) benign	1 lab	3c07dc4d9d
17:29556251 NF1 G>GT	17	29556251	29556252	G	GT	NF1	c.2619dup	NM_000267.3	NP_000258.1:p.(Lys874Ter)	NC_000017.10:g.29556252dup	(Likely) pathogenic	1 lab	3c08152c38
1:228402596 OBSCN C>T	1	228402596	228402596	C	T	OBSCN	c.1625C>T	NM_001271223.2	NP_001258152.2:p.(Pro542Leu)	NC_000001.10:g.228402596C>T	VUS	1 lab	3c0bd9df92
7:6487412 DAGLB G>A	7	6487412	6487412	G	A	DAGLB	c.62C>T	NM_139179.4	NP_631918.3:p.(Pro21Leu)	NC_000007.13:g.6487412G>A	VUS	1 lab	3c0de2e11b
2:228004953 COL4A4 C>T	2	228004953	228004953	C	T	COL4A4	c.116G>A	NM_000092.4	NP_000083.3:p.(Ser39Asn)	NC_000002.11:g.228004953C>T	VUS	1 lab	3c10749992
15:31196973 FAN1 A>G	15	31196973	31196973	A	G	FAN1	c.107A>G	NM_014967.4	NP_055782.3:p.(Asn36Ser)	NC_000015.9:g.31196973A>G	(Likely) benign	1 lab	3c14ed4e41
2:128321773 MYO7B G>A	2	128321773	128321773	G	A	MYO7B	c.64G>A	NM_001080527.1	NP_001073996.1:p.(Val22Met)	NC_000002.11:g.128321773G>A	VUS	1 lab	3c15b19479
X:118257601 KIAA1210 G>C	X	118257601	118257601	G	C	KIAA1210	c.425C>G	NM_020721.1	NP_065772.1:p.(Ala142Gly)	NC_000023.10:g.118257601G>C	VUS	1 lab	3c15d2b448
4:15565120 CC2D2A A>G	4	15565120	15565120	A	G	CC2D2A	c.3157A>G	NM_001080522.2	NP_001073991.2:p.(Ile1053Val)	NC_000004.11:g.15565120A>G	VUS	1 lab	3c164ee899
2:240003900 HDAC4 G>A	2	240003900	240003900	G	A	HDAC4	c.2535C>T	NM_006037.3	NP_006028.2:p.(Asn845=)	NC_000002.11:g.240003900G>A	(Likely) benign	1 lab	3c16b7e835
6:43168436 CUL9 G>A	6	43168436	43168436	G	A	CUL9	c.3511G>A	NM_015089.4	NP_055904.1:p.(Glu1171Lys)	NC_000006.11:g.43168436G>A	VUS	1 lab	3c16f4c294
X:19373842 PDHA1 A>G	X	19373842	19373842	A	G	PDHA1	c.912A>G	NM_001173454.1	NP_001166925.1:p.(Thr304=)	NC_000023.10:g.19373842A>G	(Likely) benign	1 lab	3c1be76eef
17:42426828 GRN G>A	17	42426828	42426828	G	A	GRN	c.173G>A	NM_002087.2	NP_002078.1:p.(Gly58Asp)	NC_000017.10:g.42426828G>A	(Likely) benign	1 lab	3c1c7da117
3:4709071 ITPR1 C>A	3	4709071	4709071	C	A	ITPR1	c.1679C>A	NM_001168272.1	NP_001161744.1:p.(Ala560Asp)	NC_000003.11:g.4709071C>A	VUS	1 lab	3c1d9b0816
16:2106246 TSC2 G>A	16	2106246	2106246	G	A	TSC2	c.648+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106246G>A	(Likely) pathogenic	1 lab	3c1eb7b4ad
7:31904598 PDE1C A>G	7	31904598	31904598	A	G	PDE1C	c.888T>C	NM_001322058.1	NP_001308987.1:p.(Val296=)	NC_000007.13:g.31904598A>G	(Likely) benign	1 lab	3c1fc53604
12:122674848 LRRC43 C>T	12	122674848	122674848	C	T	LRRC43	c.834C>T	NM_001098519.2	NP_001091989.1:p.(Cys278=)	NC_000012.11:g.122674848C>T	(Likely) benign	1 lab	3c21dc4c3a
19:7518584 ARHGEF18 C>T	19	7518584	7518584	C	T	ARHGEF18	c.2087C>T	NM_001367823.1	NP_001354752.1:p.(Thr696Ile)	NC_000019.9:g.7518584C>T	VUS	1 lab	3c230d140a
2:179464549 TTN G>A	2	179464549	179464549	G	A	TTN	c.56079C>T	NM_001267550.1	NP_001254479.1:p.(Phe18693=)	NC_000002.11:g.179464549G>A	(Likely) benign	1 lab	3c23720290
1:45477940 UROD G>A	1	45477940	45477940	G	A	UROD	c.3G>A	NM_000374.5	NP_000365.3:p.(Met1?)	NC_000001.10:g.45477940G>A	(Likely) pathogenic	1 lab	3c24376877
16:50731156 NOD2 T>C	16	50731156	50731156	T	C	NOD2	c.2T>C	NM_022162.1	NP_071445.1:p.(Met1?)	NC_000016.9:g.50731156T>C	(Likely) benign	1 lab	3c25ee6154
17:7352101 CHRNB1 G>C	17	7352101	7352101	G	C	CHRNB1	c.814G>C	NM_000747.2	NP_000738.2:p.(Asp272His)	NC_000017.10:g.7352101G>C	VUS	1 lab	3c264830a8
5:67522808 PIK3R1 C>T	5	67522808	67522808	C	T	PIK3R1	c.305C>T	NM_181523.2	NP_852664.1:p.(Ser102Leu)	NC_000005.9:g.67522808C>T	VUS	1 lab	3c26b2c0ba
12:7172542 C1S G>A	12	7172542	7172542	G	A	C1S	c.656G>A	NM_201442.3	NP_958850.1:p.(Arg219Gln)	NC_000012.11:g.7172542G>A	(Likely) benign	1 lab	3c27910a32
X:153296078 MECP2 TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA>T	X	153296078	153296124	TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	T	MECP2	c.1193_1236del	NM_001110792.2	NP_001104262.1:p.(Leu398GlnfsTer4)	NC_000023.10:g.153296081_153296124del	VUS	1 lab	3c28ec0edd
19:54410015 PRKCG C>T	19	54410015	54410015	C	T	PRKCG	c.1960C>T	NM_002739.3	NP_002730.1:p.(Leu654=)	NC_000019.9:g.54410015C>T	(Likely) benign	1 lab	3c296be0b0
11:59612847 CBLIF C>T	11	59612847	59612847	C	T	CBLIF	c.79+1G>A	NM_005142.2	NP_005133.2:p.?	NC_000011.9:g.59612847C>T	(Likely) pathogenic	1 lab	3c29d42412
17:48940771 TOB1 C>T	17	48940771	48940771	C	T	TOB1	c.608G>A	NM_005749.4	NP_005740.1:p.(Arg203His)	NC_000017.10:g.48940771C>T	VUS	1 lab	3c29db8cfa
13:36903570 SPART A>G	13	36903570	36903570	A	G	SPART	c.1093T>C	NM_015087.5	NP_055902.1:p.(Ser365Pro)	NC_000013.10:g.36903570A>G	(Likely) benign	1 lab	3c29ec3d94
1:9324367 H6PD G>A	1	9324367	9324367	G	A	H6PD	c.1815G>A	NM_004285.3	NP_004276.2:p.(Ala605=)	NC_000001.10:g.9324367G>A	(Likely) benign	1 lab	3c29f2238b
2:160287385 BAZ2B CT>C	2	160287385	160287387	CT	C	BAZ2B	c.2176del	NM_001289975.1	NP_001276904.1:p.(Ser726AlafsTer12)	NC_000002.11:g.160287387del	VUS	1 lab	ebf52cf07e
5:150922360 FAT2 A>C	5	150922360	150922360	A	C	FAT2	c.8328T>G	NM_001447.2	NP_001438.1:p.(Asp2776Glu)	NC_000005.9:g.150922360A>C	(Likely) benign	1 lab	3c2b5a5fc4
10:73405626 CDH23 C>A	10	73405626	73405626	C	A	CDH23	c.1179C>A	NM_022124.5	NP_071407.4:p.(Asn393Lys)	NC_000010.10:g.73405626C>A	VUS	1 lab	3c2bb8d455
1:115231365 AMPD1 AAAAG>A	1	115231365	115231370	AAAAG	A	AMPD1	c.35-7_35-4del	NM_000036.3	NP_000027.3:p.?	NC_000001.10:g.115231367_115231370del	VUS	1 lab	ebf8ab6d7a
22:25601239 CRYBB3 G>A	22	25601239	25601239	G	A	CRYBB3	c.380G>A	NM_004076.4	NP_004067.1:p.(Arg127His)	NC_000022.10:g.25601239G>A	VUS	1 lab	3c30975d12
1:15653602 FHAD1 G>A	1	15653602	15653602	G	A	FHAD1	c.1521G>A	NM_052929.2	NP_443161.1:p.(Ala507=)	NC_000001.10:g.15653602G>A	(Likely) benign	1 lab	3c322d9c09
7:2188805 MAD1L1 T>C	7	2188805	2188805	T	C	MAD1L1	c.1055A>G	NM_003550.2	NP_003541.2:p.(Asn352Ser)	NC_000007.13:g.2188805T>C	(Likely) benign	1 lab	3c32e62c75
6:33631649 ITPR3 C>T	6	33631649	33631649	C	T	ITPR3	c.1140C>T	NM_002224.3	NP_002215.2:p.(Phe380=)	NC_000006.11:g.33631649C>T	(Likely) benign	1 lab	3c33f6b193
16:2149704 PKD1 C>T	16	2149704	2149704	C	T	PKD1	c.9991G>A	NM_001009944.2	NP_001009944.2:p.(Val3331Met)	NC_000016.9:g.2149704C>T	VUS	1 lab	3c3562bc50
12:88554498 TMTC3 C>T	12	88554498	88554498	C	T	TMTC3	c.667C>T	NM_181783.3	NP_861448.2:p.(Arg223Cys)	NC_000012.11:g.88554498C>T	VUS	1 lab	3c3605ba7b
2:210786379 UNC80 A>G	2	210786379	210786379	A	G	UNC80	c.5301A>G	NM_032504.1	NP_115893.1:p.(Thr1767=)	NC_000002.11:g.210786379A>G	(Likely) benign	1 lab	3c36583623
X:49098493 CCDC22 T>C	X	49098493	49098493	T	C	CCDC22	c.240T>C	NM_014008.4	NP_054727.1:p.(Tyr80=)	NC_000023.10:g.49098493T>C	(Likely) benign	1 lab	3c3b28a77a
19:40382700 FCGBP C>G	19	40382700	40382700	C	G	FCGBP	c.10186G>C	NM_003890.2	NP_003881.2:p.(Val3396Leu)	NC_000019.9:g.40382700C>G	VUS	1 lab	3c3b61d49e
19:54721319 LILRB3 C>A	19	54721319	54721319	C	A	LILRB3	c.1669G>T	NM_001320960.1	NP_001307889.1:p.(Ala557Ser)	NC_000019.9:g.54721319C>A	(Likely) benign	1 lab	3c3d2758c2
5:145239392 GRXCR2 C>T	5	145239392	145239392	C	T	GRXCR2	c.651G>A	NM_001080516.1	NP_001073985.1:p.(Ser217=)	NC_000005.9:g.145239392C>T	(Likely) benign	1 lab	3c3f0c11c7
8:67998343 CSPP1 C>T	8	67998343	67998343	C	T	CSPP1	c.301C>T	NM_001363131.1	NP_001350060.1:p.(Gln101Ter)	NC_000008.10:g.67998343C>T	(Likely) pathogenic	1 lab	3c3f5e3ec9
1:196887436 CFHR4 T>C	1	196887436	196887436	T	C	CFHR4	c.1637T>C	NM_001201550.3	NP_001188479.1:p.(Ile546Thr)	NC_000001.10:g.196887436T>C	(Likely) benign	1 lab	3c404a20c2
9:130941134 CIZ1 G>A	9	130941134	130941134	G	A	CIZ1	c.1442C>T	NM_001257975.1	NP_001244904.1:p.(Ala481Val)	NC_000009.11:g.130941134G>A	(Likely) benign	1 lab	3c411f4484
17:29559779 NF1 C>T	17	29559779	29559779	C	T	NF1	c.3376C>T	NM_000267.3	NP_000258.1:p.(Gln1126Ter)	NC_000017.10:g.29559779C>T	(Likely) pathogenic	1 lab	3c419d130c
X:3238127 MXRA5 C>T	X	3238127	3238127	C	T	MXRA5	c.5599G>A	NM_015419.3	NP_056234.2:p.(Ala1867Thr)	NC_000023.10:g.3238127C>T	(Likely) benign	1 lab	3c41c7102a
2:165984439 SCN3A C>G	2	165984439	165984439	C	G	SCN3A	c.3095G>C	NM_006922.3	NP_008853.3:p.(Arg1032Thr)	NC_000002.11:g.165984439C>G	VUS	1 lab	3c41f9bdb8
17:43299594 FMNL1 C>A	17	43299594	43299594	C	A	FMNL1	c.103C>A	NM_005892.4	NP_005883.3:p.(Leu35Met)	NC_000017.10:g.43299594C>A	VUS	1 lab	3c42fee9f2
X:34961237 FAM47B C>T	X	34961237	34961237	C	T	FAM47B	c.289C>T	NM_152631.2	NP_689844.2:p.(Leu97=)	NC_000023.10:g.34961237C>T	(Likely) benign	1 lab	3c43742c86
11:134128436 ACAD8 C>T	11	134128436	134128436	C	T	ACAD8	c.408C>T	NM_014384.2	NP_055199.1:p.(Phe136=)	NC_000011.9:g.134128436C>T	(Likely) benign	1 lab	3c44f4685a
10:64967313 JMJD1C A>C	10	64967313	64967313	A	C	JMJD1C	c.4116T>G	NM_032776.2	NP_116165.1:p.(Phe1372Leu)	NC_000010.10:g.64967313A>C	VUS	1 lab	3c45ffe25b
2:21238262 APOB T>C	2	21238262	21238262	T	C	APOB	c.3488A>G	NM_000384.2	NP_000375.2:p.(Lys1163Arg)	NC_000002.11:g.21238262T>C	VUS	1 lab	3c46496b7d
5:127610383 FBN2 T>C	5	127610383	127610383	T	C	FBN2	c.7595-8A>G	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127610383T>C	(Likely) benign	1 lab	3c4702e860
7:103290795 RELN G>A	7	103290795	103290795	G	A	RELN	c.1928C>T	NM_005045.3	NP_005036.2:p.(Ala643Val)	NC_000007.13:g.103290795G>A	VUS	1 lab	3c47cc3175
3:47139547 SETD2 G>A	3	47139547	47139547	G	A	SETD2	c.5040C>T	NM_014159.6	NP_054878.5:p.(Cys1680=)	NC_000003.11:g.47139547G>A	(Likely) benign	1 lab	3c4875f73e
2:233388560 PRSS56 G>A	2	233388560	233388560	G	A	PRSS56	c.1091G>A	NM_001195129.1	NP_001182058.1:p.(Arg364Gln)	NC_000002.11:g.233388560G>A	(Likely) benign	1 lab	3c49da9402
15:74640300 CYP11A1 G>A	15	74640300	74640300	G	A	CYP11A1	c.366C>T	NM_000781.2	NP_000772.2:p.(Leu122=)	NC_000015.9:g.74640300G>A	(Likely) benign	1 lab	3c4a75585c
1:33478899 AK2 G>A	1	33478899	33478899	G	A	AK2	c.459C>T	NM_001319139.1	NP_001306068.1:p.(Tyr153=)	NC_000001.10:g.33478899G>A	(Likely) benign	1 lab	3c4bbc6cf5
X:48382172 EBP G>A	X	48382172	48382172	G	A	EBP	c.13G>A	NM_006579.2	NP_006570.1:p.(Ala5Thr)	NC_000023.10:g.48382172G>A	(Likely) benign	1 lab	3c4c36656f
9:133760364 ABL1 A>C	9	133760364	133760364	A	C	ABL1	c.2744A>C	NM_007313.2	NP_009297.2:p.(Lys915Thr)	NC_000009.11:g.133760364A>C	VUS	1 lab	3c4d30d197
17:29533382 NF1 TG>T	17	29533382	29533384	TG	T	NF1	c.1387del	NM_001042492.3	NP_001035957.1:p.(Ala463HisfsTer10)	NC_000017.10:g.29533384del	(Likely) pathogenic	1 lab	3c4d45c63c
1:1417522 ATAD3B C>T	1	1417522	1417522	C	T	ATAD3B	c.381C>T	NM_001317238.1	NP_001304167.1:p.(Thr127=)	NC_000001.10:g.1417522C>T	(Likely) benign	1 lab	3c500708ef
4:996128 IDUA C>A	4	996128	996128	C	A	IDUA	c.1044C>A	NM_000203.5	NP_000194.2:p.(Asn348Lys)	NC_000004.11:g.996128C>A	VUS	1 lab	3c5280bb0a
10:134663826 CFAP46 C>G	10	134663826	134663826	C	G	CFAP46	c.5874G>C	NM_001200049.3	NP_001186978.2:p.(Leu1958=)	NC_000010.10:g.134663826C>G	(Likely) benign	1 lab	3c5300e3a4
4:88536314 DSPP G>A	4	88536314	88536314	G	A	DSPP	c.2500G>A	NM_014208.3	NP_055023.2:p.(Asp834Asn)	NC_000004.11:g.88536314G>A	(Likely) benign	1 lab	3c538fd5e0
16:75589749 TMEM231 C>CG	16	75589749	75589753	C	CG	TMEM231	c.420dup	NM_001077416.2	NP_001070884.2:p.(Ala141ArgfsTer18)	NC_000016.9:g.75589753dup	(Likely) pathogenic	1 lab	3c5417c106
4:8870024 HMX1 C>G	4	8870024	8870024	C	G	HMX1	c.442G>C	NM_018942.2	NP_061815.2:p.(Glu148Gln)	NC_000004.11:g.8870024C>G	VUS	1 lab	3c543012ef
X:154158531 F8 C>T	X	154158531	154158531	C	T	F8	c.3534G>A	NM_000132.3	NP_000123.1:p.(Lys1178=)	NC_000023.10:g.154158531C>T	(Likely) benign	1 lab	3c54814eb4
9:713027 KANK1 T>G	9	713027	713027	T	G	KANK1	c.2261T>G	NM_001256877.2	NP_001243806.1:p.(Val754Gly)	NC_000009.11:g.713027T>G	VUS	1 lab	3c55990760
16:30486686 ITGAL C>T	16	30486686	30486686	C	T	ITGAL	c.224C>T	NM_002209.2	NP_002200.2:p.(Ser75Leu)	NC_000016.9:g.30486686C>T	(Likely) benign	1 lab	3c559f6dfe
17:29664626 NF1 C>G	17	29664626	29664626	C	G	NF1	c.6579+26C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664626C>G	(Likely) pathogenic	1 lab	3c561e060e
X:41089792 USP9X G>A	X	41089792	41089792	G	A	USP9X	c.7470G>A	NM_001039591.3	NP_001034680.2:p.(Ser2490=)	NC_000023.10:g.41089792G>A	(Likely) benign	1 lab	3c571651a6
8:32621306 NRG1 G>A	8	32621306	32621306	G	A	NRG1	c.1324G>A	NM_013956.4	NP_039250.2:p.(Val442Ile)	NC_000008.10:g.32621306G>A	VUS	1 lab	3c59935c8d
X:107976644 IRS4 A>T	X	107976644	107976644	A	T	IRS4	c.2931T>A	NM_003604.2	NP_003595.1:p.(Asp977Glu)	NC_000023.10:g.107976644A>T	(Likely) benign	1 lab	3c59ceb60a
2:62053614 FAM161A CTCT>C	2	62053614	62053622	CTCT	C	FAM161A	c.2124_2126del	NM_001201543.2	NP_001188472.1:p.(Glu709del)	NC_000002.11:g.62053620_62053622del	VUS	1 lab	3c5a66e76f
X:48768807 SLC35A2 G>GA	X	48768807	48768808	G	GA	SLC35A2	c.106_107insT	NM_001282650.1	NP_001269579.1:p.(Pro36LeufsTer71)	NC_000023.10:g.48768807_48768808insA	(Likely) benign	1 lab	3c5b0a1b90
7:2949769 CARD11 C>T	7	2949769	2949769	C	T	CARD11	c.3175G>A	NM_001324281.1	NP_001311210.1:p.(Gly1059Ser)	NC_000007.13:g.2949769C>T	(Likely) benign	1 lab	3c5cff968b
11:101981729 YAP1 C>T	11	101981729	101981729	C	T	YAP1	c.150C>T	NM_001282101.1	NP_001269030.1:p.(Ala50=)	NC_000011.9:g.101981729C>T	(Likely) benign	1 lab	3c5ffba758
X:53426549 SMC1A C>A	X	53426549	53426549	C	A	SMC1A	c.2458G>T	NM_001281463.1	NP_001268392.1:p.(Val820Leu)	NC_000023.10:g.53426549C>A	VUS	1 lab	3c61468b44
X:152482246 MAGEA1 C>T	X	152482246	152482246	C	T	MAGEA1	c.765G>A	NM_004988.4	NP_004979.3:p.(Pro255=)	NC_000023.10:g.152482246C>T	(Likely) benign	1 lab	3c61c047ce
15:75949348 SNX33 G>A	15	75949348	75949348	G	A	SNX33	c.1517G>A	NM_153271.1	NP_695003.1:p.(Gly506Asp)	NC_000015.9:g.75949348G>A	VUS	1 lab	3c64c8584e
15:51773467 DMXL2 C>T	15	51773467	51773467	C	T	DMXL2	c.5836G>A	NM_001174116.1	NP_001167587.1:p.(Gly1946Arg)	NC_000015.9:g.51773467C>T	(Likely) benign	1 lab	3c657cf350
6:162864317 PRKN A>G	6	162864317	162864317	A	G	PRKN	c.171+25T>C	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.162864317A>G	(Likely) benign	1 lab	3c68d31f25
18:50832095 DCC T>C	18	50832095	50832095	T	C	DCC	c.2053+6T>C	NM_005215.3	NP_005206.2:p.?	NC_000018.9:g.50832095T>C	VUS	1 lab	3c6a6566ad
1:197070178 ASPM A>C	1	197070178	197070178	A	C	ASPM	c.8203T>G	NM_018136.4	NP_060606.3:p.(Phe2735Val)	NC_000001.10:g.197070178A>C	VUS	1 lab	3c6b4dd4fb
5:70856041 BDP1 G>A	5	70856041	70856041	G	A	BDP1	c.7473G>A	NM_018429.2	NP_060899.2:p.(Ser2491=)	NC_000005.9:g.70856041G>A	(Likely) benign	1 lab	3c6b99bf13
13:32937402 BRCA2 T>C	13	32937402	32937402	T	C	BRCA2	c.8063T>C	NM_000059.3	NP_000050.2:p.(Leu2688Pro)	NC_000013.10:g.32937402T>C	VUS	1 lab	3c6cb5b8ba
11:6549941 DNHD1 A>G	11	6549941	6549941	A	G	DNHD1	c.2027A>G	NM_144666.2	NP_653267.2:p.(Tyr676Cys)	NC_000011.9:g.6549941A>G	VUS	1 lab	3c6e4aac7e
4:39218765 WDR19 T>A	4	39218765	39218765	T	A	WDR19	c.1261T>A	NM_025132.3	NP_079408.3:p.(Leu421Met)	NC_000004.11:g.39218765T>A	VUS	1 lab	3c70c0972e
3:41266971 CTNNB1 C>G	3	41266971	41266971	C	G	CTNNB1	c.642C>G	NM_001904.3	NP_001895.1:p.(Thr214=)	NC_000003.11:g.41266971C>G	(Likely) benign	1 lab	3c70c88350
7:94053724 COL1A2 A>C	7	94053724	94053724	A	C	COL1A2	c.2642A>C	NM_000089.3	NP_000080.2:p.(Glu881Ala)	NC_000007.13:g.94053724A>C	VUS	1 lab	3c75703e1b
1:234744980 IRF2BP2 G>A	1	234744980	234744980	G	A	IRF2BP2	c.261C>T	NM_182972.2	NP_892017.2:p.(Ser87=)	NC_000001.10:g.234744980G>A	(Likely) benign	1 lab	3c75ccd7e3
16:56548526 BBS2 G>C	16	56548526	56548526	G	C	BBS2	c.184C>G	NM_031885.3	NP_114091.3:p.(Leu62Val)	NC_000016.9:g.56548526G>C	VUS	1 lab	3c765e35f3
17:29664543 NF1 GAC>G	17	29664543	29664545	GAC	G	NF1	c.6586_6587del	NM_001042492.3	NP_001035957.1:p.(Thr2196PhefsTer45)	NC_000017.10:g.29664544_29664545del	(Likely) pathogenic	1 lab	3c7679540d
16:2136343 TSC2 C>A	16	2136343	2136343	C	A	TSC2	c.4812C>A	NM_000548.3	NP_000539.2:p.(Gly1604=)	NC_000016.9:g.2136343C>A	(Likely) benign	1 lab	3c76e5c2a1
21:45789098 TRPM2 A>C	21	45789098	45789098	A	C	TRPM2	c.643A>C	NM_001320350.1	NP_001307279.1:p.(Met215Leu)	NC_000021.8:g.45789098A>C	VUS	1 lab	3c76fd3568
5:70805429 BDP1 T>G	5	70805429	70805429	T	G	BDP1	c.2510T>G	NM_018429.2	NP_060899.2:p.(Ile837Ser)	NC_000005.9:g.70805429T>G	(Likely) benign	1 lab	3c774b2d5f
3:12942577 IQSEC1 C>T	3	12942577	12942577	C	T	IQSEC1	c.3250G>A	NM_001134382.3	NP_001127854.1:p.(Val1084Met)	NC_000003.11:g.12942577C>T	(Likely) benign	1 lab	3c78693860
16:46934622 GPT2 T>C	16	46934622	46934622	T	C	GPT2	c.362T>C	NM_133443.3	NP_597700.1:p.(Leu121Pro)	NC_000016.9:g.46934622T>C	VUS	1 lab	3c7ff823d1
17:72838858 MISSING C>G	17	72838858	72838858	C	G	MISSING				NC_000017.10:g.72838858C>G	(Likely) benign	1 lab	3c80c966ae
7:100851013 PLOD3 C>T	7	100851013	100851013	C	T	PLOD3	c.1789-8G>A	NM_001084.4	NP_001075.1:p.?	NC_000007.13:g.100851013C>T	(Likely) benign	1 lab	3c816faa35
12:64173781 RXYLT1 C>T	12	64173781	64173781	C	T	RXYLT1	c.41C>T	NM_014254.2	NP_055069.1:p.(Ala14Val)	NC_000012.11:g.64173781C>T	(Likely) benign	1 lab	3c81842b24
X:22117222 PHEX G>A	X	22117222	22117222	G	A	PHEX	c.1032G>A	NM_000444.5	NP_000435.3:p.(Pro344=)	NC_000023.10:g.22117222G>A	(Likely) benign	1 lab	3c84e10d55
14:68195998 RDH12 T>C	14	68195998	68195998	T	C	RDH12	c.749T>C	NM_152443.2	NP_689656.2:p.(Leu250Pro)	NC_000014.8:g.68195998T>C	VUS	1 lab	3c85795f24
20:2381101 TGM6 C>T	20	2381101	2381101	C	T	TGM6	c.989+11C>T	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2381101C>T	(Likely) benign	1 lab	3c8729f095
X:21674449 KLHL34 G>A	X	21674449	21674449	G	A	KLHL34	c.1458C>T	NM_153270.2	NP_695002.1:p.(Gly486=)	NC_000023.10:g.21674449G>A	VUS	1 lab	3c8737bb95
5:1294393 TERT C>G	5	1294393	1294393	C	G	TERT	c.608G>C	NM_198253.3	NP_937983.2:p.(Trp203Ser)	NC_000005.9:g.1294393C>G	VUS	1 lab	ec103fee82
22:51121852 MISSING C>T	22	51121852	51121852	C	T	MISSING				NC_000022.10:g.51121852C>T	(Likely) benign	1 lab	3c8971ee72
15:28465644 HERC2 A>T	15	28465644	28465644	A	T	HERC2	c.5799T>A	NM_004667.5	NP_004658.3:p.(Ala1933=)	NC_000015.9:g.28465644A>T	(Likely) benign	1 lab	3c8a104b71
14:64518312 SYNE2 A>T	14	64518312	64518312	A	T	SYNE2	c.7681A>T	NM_182914.2	NP_878918.2:p.(Lys2561Ter)	NC_000014.8:g.64518312A>T	VUS	1 lab	3c8ad1e85f
17:73754411 GALK1 C>T	17	73754411	73754411	C	T	GALK1	c.987G>A	NM_000154.1	NP_000145.1:p.(Val329=)	NC_000017.10:g.73754411C>T	(Likely) benign	1 lab	3c8b6faa76
12:97085015 CFAP54 C>T	12	97085015	97085015	C	T	CFAP54	c.6191C>T	NM_001306084.2	NP_001293013.1:p.(Ala2064Val)	NC_000012.11:g.97085015C>T	VUS	1 lab	3c8e36f4b0
1:149895863 SF3B4 T>TA	1	149895863	149895865	T	TA	SF3B4	c.956dup	NM_005850.4	NP_005841.1:p.(Leu319PhefsTer167)	NC_000001.10:g.149895865dup	(Likely) pathogenic	1 lab	3c8e58d492
13:110830188 COL4A1 C>T	13	110830188	110830188	C	T	COL4A1	c.2716+1G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110830188C>T	(Likely) pathogenic	1 lab	3c8ed6fd1a
15:45895295 BLOC1S6 C>A	15	45895295	45895295	C	A	BLOC1S6	c.225-3C>A	NM_012388.3	NP_036520.1:p.?	NC_000015.9:g.45895295C>A	VUS	1 lab	3c918bc933
X:71710779 HDAC8 C>T	X	71710779	71710779	C	T	HDAC8	c.628G>A	NM_018486.3	NP_060956.1:p.(Gly210Arg)	NC_000023.10:g.71710779C>T	(Likely) pathogenic	1 lab	ec11760719
6:83848215 DOP1A T>C	6	83848215	83848215	T	C	DOP1A	c.4427T>C	NM_001199942.1	NP_001186871.1:p.(Met1476Thr)	NC_000006.11:g.83848215T>C	(Likely) benign	1 lab	3c92ba2a6b
13:114523857 GAS6 C>CG	13	114523857	114523864	C	CG	GAS6	c.2016dup	NM_000820.3	NP_000811.1:p.(Val673ArgfsTer37)	NC_000013.10:g.114523864dup	VUS	1 lab	3c9339a51d
1:220366606 RAB3GAP2 C>T	1	220366606	220366606	C	T	RAB3GAP2	c.1246G>A	NM_012414.4	NP_036546.2:p.(Gly416Arg)	NC_000001.10:g.220366606C>T	VUS	1 lab	ec12d94e46
10:18289602 SLC39A12 C>A	10	18289602	18289602	C	A	SLC39A12	c.1604C>A	NM_001282733.1	NP_001269662.1:p.(Ala535Asp)	NC_000010.10:g.18289602C>A	(Likely) benign	1 lab	3c951f8dec
3:14199928 XPC C>A	3	14199928	14199928	C	A	XPC	c.1455G>T	NM_004628.4	NP_004619.3:p.(Arg485Ser)	NC_000003.11:g.14199928C>A	(Likely) benign	1 lab	3c96bc6132
8:144991848 PLEC G>A	8	144991848	144991848	G	A	PLEC	c.12552C>T	NM_201380.3	NP_958782.1:p.(Ile4184=)	NC_000008.10:g.144991848G>A	(Likely) benign	1 lab	3c98f59b82
13:32913396 BRCA2 T>A	13	32913396	32913396	T	A	BRCA2	c.4904T>A	NM_000059.4	NP_000050.3:p.(Leu1635Ter)	NC_000013.10:g.32913396T>A	(Likely) pathogenic	1 lab	ec14d19492
4:79238599 FRAS1 C>T	4	79238599	79238599	C	T	FRAS1	c.1897C>T	NM_025074.7	NP_079350.5:p.(Arg633Cys)	NC_000004.11:g.79238599C>T	VUS	1 lab	3c9d84d53a
20:31019207 ASXL1 A>AGG	20	31019207	31019208	A	AGG	ASXL1	c.802_803insGG	NM_015338.6	NP_056153.2:p.(Ile268ArgfsTer25)	NC_000020.10:g.31019207_31019208insGG	(Likely) pathogenic	1 lab	ec15403920
X:100242470 ARL13A G>T	X	100242470	100242470	G	T	ARL13A	c.578G>T	NM_001162491.1	NP_001155963.1:p.(Cys193Phe)	NC_000023.10:g.100242470G>T	(Likely) benign	1 lab	3c9e0ec7d2
7:16460904 CRPPA C>A	7	16460904	16460904	C	A	CRPPA	c.44G>T	NM_001101426.3	NP_001094896.1:p.(Gly15Val)	NC_000007.13:g.16460904C>A	(Likely) benign	1 lab	3c9eee8a51
20:3211846 SLC4A11 G>A	20	3211846	3211846	G	A	SLC4A11	c.1120C>T	NM_001174090.1	NP_001167561.1:p.(Arg374Trp)	NC_000020.10:g.3211846G>A	(Likely) benign	1 lab	3c9f165664
8:17143901 VPS37A A>T	8	17143901	17143901	A	T	VPS37A	c.1159A>T	NM_152415.2	NP_689628.2:p.(Ile387Leu)	NC_000008.10:g.17143901A>T	(Likely) benign	1 lab	3c9f2b3f8c
17:29665806 NF1 C>T	17	29665806	29665806	C	T	NF1	c.6841C>T	NM_000267.3	NP_000258.1:p.(Gln2281Ter)	NC_000017.10:g.29665806C>T	(Likely) pathogenic	1 lab	3ca09c1665
X:102968545 GLRA4 A>T	X	102968545	102968545	A	T	GLRA4	c.986T>A	NM_001024452.2	NP_001019623.2:p.(Val329Glu)	NC_000023.10:g.102968545A>T	(Likely) benign	1 lab	3ca1938370
11:611666 PHRF1 C>T	11	611666	611666	C	T	PHRF1	c.4836C>T	NM_020901.3	NP_065952.2:p.(Pro1612=)	NC_000011.9:g.611666C>T	(Likely) benign	1 lab	3ca2950ad7
19:43991024 PHLDB3 T>C	19	43991024	43991024	T	C	PHLDB3	c.1250-2A>G	NM_198850.3	NP_942147.3:p.?	NC_000019.9:g.43991024T>C	VUS	1 lab	3ca46683f2
10:119027258 SLC18A2 C>T	10	119027258	119027258	C	T	SLC18A2	c.1186+11C>T	NM_003054.6	NP_003045.2:p.?	NC_000010.10:g.119027258C>T	(Likely) benign	1 lab	3ca4fc82e6
X:153216921 HCFC1 GGGC>G	X	153216921	153216927	GGGC	G	HCFC1	c.5394_5396del	NM_005334.3	NP_005325.2:p.(Pro1801del)	NC_000023.10:g.153216925_153216927del	(Likely) benign	1 lab	ec15fb14ea
1:9097667 SLC2A5 G>A	1	9097667	9097667	G	A	SLC2A5	c.1484C>T	NM_003039.2	NP_003030.1:p.(Pro495Leu)	NC_000001.10:g.9097667G>A	(Likely) benign	1 lab	3ca6da96dd
4:41258978 UCHL1 C>T	4	41258978	41258978	C	T	UCHL1	c.-16C>T	NM_004181.4	NP_004172.2:p.?	NC_000004.11:g.41258978C>T	(Likely) benign	1 lab	3ca8ad82f2
15:63335071 TPM1 A>G	15	63335071	63335071	A	G	TPM1	c.43A>G	NM_001018004.1	NP_001018004.1:p.(Lys15Glu)	NC_000015.9:g.63335071A>G	VUS	1 lab	3ca9345373
11:1262084 MUC5B C>T	11	1262084	1262084	C	T	MUC5B	c.3974C>T	NM_002458.2	NP_002449.2:p.(Pro1325Leu)	NC_000011.9:g.1262084C>T	(Likely) benign	1 lab	3ca9938862
X:153592494 FLNA T>C	X	153592494	153592494	T	C	FLNA	c.2176A>G	NM_001110556.2	NP_001104026.1:p.(Asn726Asp)	NC_000023.10:g.153592494T>C	VUS	1 lab	3caa6fc51b
8:30958353 WRN CT>C	8	30958353	30958360	CT	C	WRN	c.1982-5del	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30958360del	(Likely) benign	1 lab	ec1e592bce
11:61533173 MYRF T>C	11	61533173	61533173	T	C	MYRF	c.123T>C	NM_001127392.2	NP_001120864.1:p.(Asp41=)	NC_000011.9:g.61533173T>C	(Likely) benign	1 lab	3caf2bee5d
7:148771516 ZNF786 A>G	7	148771516	148771516	A	G	ZNF786	c.260T>C	NM_152411.3	NP_689624.2:p.(Met87Thr)	NC_000007.13:g.148771516A>G	(Likely) benign	1 lab	3cb0077fcc
13:101266671 TMTC4 T>C	13	101266671	101266671	T	C	TMTC4	c.1850A>G	NM_032813.4	NP_116202.2:p.(Asn617Ser)	NC_000013.10:g.101266671T>C	VUS	1 lab	3cb1b7877b
12:48375938 COL2A1 G>A	12	48375938	48375938	G	A	COL2A1	c.2307C>T	NM_001844.4	NP_001835.3:p.(Asp769=)	NC_000012.11:g.48375938G>A	(Likely) benign	1 lab	3cb38f30a8
8:17739625 FGL1 G>A	8	17739625	17739625	G	A	FGL1	c.127C>T	NM_201553.1	NP_963847.1:p.(Arg43Trp)	NC_000008.10:g.17739625G>A	VUS	1 lab	3cb4578eb2
2:8943183 KIDINS220 A>G	2	8943183	8943183	A	G	KIDINS220	c.678T>C	NM_020738.3	NP_065789.1:p.(Asn226=)	NC_000002.11:g.8943183A>G	(Likely) benign	1 lab	3cb4bc340f
2:179422518 TTN A>C	2	179422518	179422518	A	C	TTN	c.87563T>G	NM_001267550.1	NP_001254479.1:p.(Val29188Gly)	NC_000002.11:g.179422518A>C	VUS	1 lab	3cb62548dd
12:56094926 ITGA7 G>A	12	56094926	56094926	G	A	ITGA7	c.427C>T	NM_001144996.1	NP_001138468.1:p.(Arg143Ter)	NC_000012.11:g.56094926G>A	VUS	1 lab	3cb74110a1
16:81193372 MISSING C>G	16	81193372	81193372	C	G	MISSING				NC_000016.9:g.81193372C>G	VUS	1 lab	3cba166688
16:88498487 ZNF469 G>A	16	88498487	88498487	G	A	ZNF469				NC_000016.9:g.88498487G>A	VUS	1 lab	3cbbb8d06c
20:57415307 GNAS A>G	20	57415307	57415307	A	G	GNAS	c.146A>G	NM_016592.3	NP_057676.1:p.(Asn49Ser)	NC_000020.10:g.57415307A>G	(Likely) benign	1 lab	3cbbe65c4c
19:50827178 KCNC3 C>T	19	50827178	50827178	C	T	KCNC3	c.1032G>A	NM_004977.2	NP_004968.2:p.(Thr344=)	NC_000019.9:g.50827178C>T	(Likely) benign	1 lab	3cbc380c01
14:50100083 DNAAF2 C>T	14	50100083	50100083	C	T	DNAAF2	c.1785G>A	NM_018139.2	NP_060609.2:p.(Val595=)	NC_000014.8:g.50100083C>T	(Likely) benign	1 lab	3cbc493844
3:167510542 SERPINI1 A>G	3	167510542	167510542	A	G	SERPINI1	c.646A>G	NM_005025.4	NP_005016.1:p.(Met216Val)	NC_000003.11:g.167510542A>G	VUS	1 lab	3cbe14eccf
12:124886983 NCOR2 G>A	12	124886983	124886983	G	A	NCOR2	c.1607C>T	NM_006312.5	NP_006303.4:p.(Pro536Leu)	NC_000012.11:g.124886983G>A	(Likely) benign	1 lab	3cbe1aa7a3
X:15344178 PIGA T>C	X	15344178	15344178	T	C	PIGA	c.716-10A>G	NM_002641.3	NP_002632.1:p.?	NC_000023.10:g.15344178T>C	(Likely) benign	1 lab	3cc08046a6
19:9085145 MUC16 C>T	19	9085145	9085145	C	T	MUC16	c.6670G>A	NM_024690.2	NP_078966.2:p.(Ala2224Thr)	NC_000019.9:g.9085145C>T	VUS	1 lab	3cc0d14232
15:89848853 FANCI G>A	15	89848853	89848853	G	A	FANCI	c.3273G>A	NM_001113378.1	NP_001106849.1:p.(Gln1091=)	NC_000015.9:g.89848853G>A	(Likely) benign	1 lab	3cc13beaad
11:624877 CDHR5 G>C	11	624877	624877	G	C	CDHR5	c.26C>G	NM_021924.4	NP_068743.2:p.(Pro9Arg)	NC_000011.9:g.624877G>C	(Likely) benign	1 lab	3cc14af08c
17:41215915 BRCA1 C>T	17	41215915	41215915	C	T	BRCA1	c.5128G>A	NM_007294.3	NP_009225.1:p.(Gly1710Arg)	NC_000017.10:g.41215915C>T	VUS	1 lab	3cc1a4103b
3:38592580 SCN5A G>A	3	38592580	38592580	G	A	SCN5A	c.5184C>T	NM_001160160.1	NP_001153632.1:p.(Leu1728=)	NC_000003.11:g.38592580G>A	(Likely) benign	1 lab	3cc244e675
8:104973361 RIMS2 G>A	8	104973361	104973361	G	A	RIMS2	c.2995G>A	NM_001348484.1	NP_001335413.1:p.(Asp999Asn)	NC_000008.10:g.104973361G>A	VUS	1 lab	3cc2c3b168
2:15601427 NBAS G>GT	2	15601427	15601428	G	GT	NBAS	c.2236dup	NM_015909.3	NP_056993.2:p.(Thr746AsnfsTer26)	NC_000002.11:g.15601428dup	(Likely) pathogenic	1 lab	3cc37aff5e
3:69077140 TMF1 A>C	3	69077140	69077140	A	C	TMF1	c.2668T>G	NM_007114.3	NP_009045.2:p.(Leu890Val)	NC_000003.11:g.69077140A>C	VUS	1 lab	3cc42dd554
2:163124025 IFIH1 A>C	2	163124025	163124025	A	C	IFIH1	c.2862T>G	NM_022168.4	NP_071451.2:p.(Tyr954Ter)	NC_000002.11:g.163124025A>C	VUS	1 lab	3cc5001c0b
6:129612776 LAMA2 G>A	6	129612776	129612776	G	A	LAMA2	c.2767G>A	NM_000426.3	NP_000417.2:p.(Gly923Ser)	NC_000006.11:g.129612776G>A	(Likely) benign	1 lab	3cc5049ad0
X:91131897 PCDH11X A>G	X	91131897	91131897	A	G	PCDH11X	c.658A>G	NM_032968.4	NP_116750.1:p.(Lys220Glu)	NC_000023.10:g.91131897A>G	VUS	1 lab	3cd77ea6de
11:5247900 HBB A>G	11	5247900	5247900	A	G	HBB	c.222T>C	NM_000518.5	NP_000509.1:p.(Asp74=)	NC_000011.9:g.5247900A>G	(Likely) benign	1 lab	ec22727b37
9:117185609 WHRN G>A	9	117185609	117185609	G	A	WHRN	c.1611C>T	NM_015404.3	NP_056219.3:p.(Thr537=)	NC_000009.11:g.117185609G>A	(Likely) benign	1 lab	3cc84d061a
15:63961744 HERC1 G>A	15	63961744	63961744	G	A	HERC1	c.8199C>T	NM_003922.3	NP_003913.3:p.(Asn2733=)	NC_000015.9:g.63961744G>A	(Likely) benign	1 lab	3cc8adb397
10:135107170 TUBGCP2 C>T	10	135107170	135107170	C	T	TUBGCP2	c.804G>A	NM_001256617.1	NP_001243546.1:p.(Gly268=)	NC_000010.10:g.135107170C>T	(Likely) benign	1 lab	3cc9d962c9
3:151129094 MED12L G>T	3	151129094	151129094	G	T	MED12L	c.5834G>T	NM_053002.5	NP_443728.3:p.(Gly1945Val)	NC_000003.11:g.151129094G>T	VUS	1 lab	ec232fbddd
X:22208620 PHEX G>A	X	22208620	22208620	G	A	PHEX	c.1645+1G>A	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22208620G>A	(Likely) pathogenic	1 lab	ec23e02aef
6:31864445 EHMT2 A>G	6	31864445	31864445	A	G	EHMT2	c.437T>C	NM_001289413.1	NP_001276342.1:p.(Ile146Thr)	NC_000006.11:g.31864445A>G	(Likely) benign	1 lab	3cca8367e3
2:186668087 FSIP2 G>A	2	186668087	186668087	G	A	FSIP2	c.14054G>A	NM_173651.4	NP_775922.3:p.(Cys4685Tyr)	NC_000002.11:g.186668087G>A	VUS	1 lab	ec26b6d2b5
4:15542618 CC2D2A C>T	4	15542618	15542618	C	T	CC2D2A	c.2162C>T	NM_001080522.2	NP_001073991.2:p.(Pro721Leu)	NC_000004.11:g.15542618C>T	VUS	1 lab	3ccae4832d
11:62556806 TMEM179B A>T	11	62556806	62556806	A	T	TMEM179B	c.327A>T	NM_199337.3	NP_955369.1:p.(Ile109=)	NC_000011.9:g.62556806A>T	(Likely) benign	1 lab	3cce4ba112
15:28375310 HERC2 A>T	15	28375310	28375310	A	T	HERC2	c.12801T>A	NM_004667.5	NP_004658.3:p.(Asp4267Glu)	NC_000015.9:g.28375310A>T	(Likely) benign	1 lab	3ccf2c3c9f
7:103202386 RELN C>T	7	103202386	103202386	C	T	RELN	c.5225G>A	NM_005045.3	NP_005036.2:p.(Arg1742Gln)	NC_000007.13:g.103202386C>T	VUS	1 lab	3cd184df27
9:312048 DOCK8 A>G	9	312048	312048	A	G	DOCK8	c.623A>G	NM_203447.3	NP_982272.2:p.(Lys208Arg)	NC_000009.11:g.312048A>G	(Likely) benign	1 lab	3cd211c7ac
10:97471714 ENTPD1 A>G	10	97471714	97471714	A	G	ENTPD1	c.1A>G	NM_001098175.1	NP_001091645.1:p.(Met1?)	NC_000010.10:g.97471714A>G	(Likely) benign	1 lab	3cd34bf9e5
X:151092785 MAGEA4 G>A	X	151092785	151092785	G	A	MAGEA4	c.649G>A	NM_002362.4	NP_002353.3:p.(Ala217Thr)	NC_000023.10:g.151092785G>A	(Likely) benign	1 lab	3cd3e94fd6
5:13865801 DNAH5 T>C	5	13865801	13865801	T	C	DNAH5	c.4331A>G	NM_001369.2	NP_001360.1:p.(Asn1444Ser)	NC_000005.9:g.13865801T>C	VUS	1 lab	3cd5f32fb3
1:184686026 EDEM3 C>T	1	184686026	184686026	C	T	EDEM3	c.1366G>A	NM_001319960.1	NP_001306889.1:p.(Asp456Asn)	NC_000001.10:g.184686026C>T	VUS	1 lab	3cd6e0f8a0
16:31388225 ITGAX G>A	16	31388225	31388225	G	A	ITGAX	c.2614G>A	NM_000887.4	NP_000878.2:p.(Gly872Ser)	NC_000016.9:g.31388225G>A	VUS	1 lab	3cd8190aa1
12:22066006 ABCC9 G>T	12	22066006	22066006	G	T	ABCC9	c.817-6C>A	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22066006G>T	(Likely) benign	1 lab	3cd8846f10
18:67776875 RTTN C>T	18	67776875	67776875	C	T	RTTN	c.3762G>A	NM_173630.3	NP_775901.3:p.(Ala1254=)	NC_000018.9:g.67776875C>T	(Likely) benign	1 lab	3cdb1c02ce
1:10386362 KIF1B A>G	1	10386362	10386362	A	G	KIF1B	c.2731A>G	NM_015074.3	NP_055889.2:p.(Ser911Gly)	NC_000001.10:g.10386362A>G	VUS	1 lab	3cdb475020
X:101910845 GPRASP1 TGAG>T	X	101910845	101910851	TGAG	T	GPRASP1	c.2008_2010del	NM_001184727.2	NP_001171656.1:p.(Glu670del)	NC_000023.10:g.101910849_101910851del	VUS	1 lab	3cdb90cb60
2:179621236 TTN G>A	2	179621236	179621236	G	A	TTN	c.10967C>T	NM_001267550.1	NP_001254479.1:p.(Thr3656Met)	NC_000002.11:g.179621236G>A	VUS	1 lab	3cdbb048b5
1:180910180 KIAA1614 G>C	1	180910180	180910180	G	C	KIAA1614	c.2919-1G>C	NM_020950.2	NP_066001.1:p.?	NC_000001.10:g.180910180G>C	VUS	1 lab	3cdd487345
7:151856112 KMT2C G>A	7	151856112	151856112	G	A	KMT2C	c.11506C>T	NM_170606.2	NP_733751.2:p.(Gln3836Ter)	NC_000007.13:g.151856112G>A	(Likely) pathogenic	1 lab	3cdec69a75
4:88537486 DSPP C>CAGCAATGAA	4	88537486	88537491	C	CAGCAATGAA	DSPP	c.3676_3677insATGAAAGCA	NM_014208.3	NP_055023.2:p.(Ser1225_Ser1226insAsnGluSer)	NC_000004.11:g.88537490_88537491insATGAAAGCA	VUS	1 lab	3cdf1d3546
14:82000029 SEL1L C>A	14	82000029	82000029	C	A	SEL1L	c.60G>T	NM_005065.5	NP_005056.3:p.(Ser20=)	NC_000014.8:g.82000029C>A	(Likely) benign	1 lab	3cdfedf11c
13:110822924 COL4A1 G>A	13	110822924	110822924	G	A	COL4A1	c.3712C>T	NM_001845.5	NP_001836.3:p.(Arg1238Cys)	NC_000013.10:g.110822924G>A	VUS	1 lab	3ce154356f
2:152394460 NEB A>G	2	152394460	152394460	A	G	NEB	c.21028T>C	NM_001271208.1	NP_001258137.1:p.(Leu7010=)	NC_000002.11:g.152394460A>G	(Likely) benign	1 lab	3ce2736bee
X:10491228 MID1 C>A	X	10491228	10491228	C	A	MID1	c.661-1G>T	NM_000381.3	NP_000372.1:p.?	NC_000023.10:g.10491228C>A	(Likely) pathogenic	1 lab	3ce2d46095
X:129203393 ELF4 C>T	X	129203393	129203393	C	T	ELF4	c.1069G>A	NM_001421.3	NP_001412.1:p.(Gly357Ser)	NC_000023.10:g.129203393C>T	VUS	1 lab	3ce303ae61
11:129746740 NFRKB G>A	11	129746740	129746740	G	A	NFRKB	c.1623C>T	NM_001143835.1	NP_001137307.1:p.(His541=)	NC_000011.9:g.129746740G>A	(Likely) benign	1 lab	3ce40d061f
2:121740465 GLI2 G>A	2	121740465	121740465	G	A	GLI2	c.1683+9G>A	NM_005270.4	NP_005261.2:p.?	NC_000002.11:g.121740465G>A	(Likely) benign	1 lab	3ce4b7c072
16:77317949 ADAMTS18 A>G	16	77317949	77317949	A	G	ADAMTS18	c.3054T>C	NM_001326358.1	NP_001313287.1:p.(Asp1018=)	NC_000016.9:g.77317949A>G	(Likely) benign	1 lab	3ce5276698
16:2129102 TSC2 C>T	16	2129102	2129102	C	T	TSC2	c.3036C>T	NM_000548.3	NP_000539.2:p.(Asp1012=)	NC_000016.9:g.2129102C>T	(Likely) benign	1 lab	3ce5b75823
11:57572259 CTNND1 G>T	11	57572259	57572259	G	T	CTNND1	c.1722+7G>T	NM_001085458.1	NP_001078927.1:p.?	NC_000011.9:g.57572259G>T	(Likely) benign	1 lab	3ce6619c84
15:62211547 VPS13C A>T	15	62211547	62211547	A	T	VPS13C	c.7579T>A	NM_001018088.2	NP_001018098.1:p.(Leu2527Met)	NC_000015.9:g.62211547A>T	VUS	1 lab	3ce8ec7b4a
3:123367988 MYLK G>T	3	123367988	123367988	G	T	MYLK	c.4321+21C>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123367988G>T	(Likely) benign	1 lab	3ce9b54e92
2:179422745 TTN A>G	2	179422745	179422745	A	G	TTN	c.87336T>C	NM_001267550.1	NP_001254479.1:p.(Ala29112=)	NC_000002.11:g.179422745A>G	(Likely) benign	1 lab	3ceaa45968
20:10639285 JAG1 G>A	20	10639285	10639285	G	A	JAG1	c.525C>T	NM_000214.3	NP_000205.1:p.(Gly175=)	NC_000020.10:g.10639285G>A	(Likely) benign	1 lab	3ceb83ce21
1:197059479 ASPM A>C	1	197059479	197059479	A	C	ASPM	c.9676T>G	NM_018136.4	NP_060606.3:p.(Cys3226Gly)	NC_000001.10:g.197059479A>C	(Likely) benign	1 lab	3ceba7690b
16:2110837 TSC2 G>A	16	2110837	2110837	G	A	TSC2	c.1119+23G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110837G>A	(Likely) benign	1 lab	3cec1c8842
1:242048713 EXO1 C>T	1	242048713	242048713	C	T	EXO1	c.2309C>T	NM_130398.3	NP_569082.2:p.(Pro770Leu)	NC_000001.10:g.242048713C>T	(Likely) benign	1 lab	3cefafdce3
X:32509465 DMD T>G	X	32509465	32509465	T	G	DMD	c.2182A>C	NM_004010.3	NP_004001.1:p.(Asn728His)	NC_000023.10:g.32509465T>G	(Likely) benign	1 lab	3cf42d33c9
15:57565376 TCF12 T>C	15	57565376	57565376	T	C	TCF12	c.1894T>C	NM_207037.1	NP_996920.1:p.(Leu632=)	NC_000015.9:g.57565376T>C	(Likely) benign	1 lab	3cf52ede0c
1:227174315 COQ8A C>A	1	227174315	227174315	C	A	COQ8A	c.1821C>A	NM_020247.4	NP_064632.2:p.(Tyr607Ter)	NC_000001.10:g.227174315C>A	VUS	1 lab	3cf77cd937
10:127422239 EDRF1 A>C	10	127422239	127422239	A	C	EDRF1	c.1210A>C	NM_015608.2	NP_056423.2:p.(Thr404Pro)	NC_000010.10:g.127422239A>C	VUS	1 lab	3cf99d2318
9:131222846 ODF2 C>T	9	131222846	131222846	C	T	ODF2	c.9C>T	NM_001351580.1	NP_001338509.1:p.(Asp3=)	NC_000009.11:g.131222846C>T	(Likely) benign	1 lab	3cfb1ef57e
7:94027080 COL1A2 A>G	7	94027080	94027080	A	G	COL1A2	c.81+10A>G	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94027080A>G	(Likely) benign	1 lab	3cfe495f20
5:89968396 ADGRV1 G>A	5	89968396	89968396	G	A	ADGRV1	c.4786G>A	NM_032119.4	NP_115495.3:p.(Val1596Ile)	NC_000005.9:g.89968396G>A	VUS	1 lab	3d00226d6b
1:39353669 RHBDL2 T>C	1	39353669	39353669	T	C	RHBDL2	c.698A>G	NM_017821.5	NP_060291.2:p.(Tyr233Cys)	NC_000001.10:g.39353669T>C	VUS	1 lab	3d0052a9d1
Y:21877388 KDM5D G>A	Y	21877388	21877388	G	A	KDM5D	c.2432-3C>T	NM_001146705.1	NP_001140177.1:p.?	NC_000024.9:g.21877388G>A	(Likely) benign	1 lab	3d009afc02
15:93472258 CHD2 AG>A	15	93472258	93472260	AG	A	CHD2	c.382del	NM_001271.4	NP_001262.3:p.(Ala128GlnfsTer18)	NC_000015.9:g.93472260del	VUS	1 lab	3d00b464f5
X:18822048 PPEF1 T>C	X	18822048	18822048	T	C	PPEF1	c.1104T>C	NM_006240.2	NP_006231.2:p.(Asn368=)	NC_000023.10:g.18822048T>C	(Likely) benign	1 lab	3d026419d4
1:237774139 RYR2 C>T	1	237774139	237774139	C	T	RYR2	c.4761C>T	NM_001035.2	NP_001026.2:p.(His1587=)	NC_000001.10:g.237774139C>T	(Likely) benign	1 lab	3d03e28c3e
19:45208936 CEACAM16 G>A	19	45208936	45208936	G	A	CEACAM16	c.738G>A	NM_001039213.4	NP_001034302.2:p.(Thr246=)	NC_000019.9:g.45208936G>A	(Likely) benign	1 lab	3d04318014
10:101464258 ENTPD7 C>T	10	101464258	101464258	C	T	ENTPD7	c.1633C>T	NM_020354.4	NP_065087.1:p.(Leu545Phe)	NC_000010.10:g.101464258C>T	(Likely) benign	1 lab	3d05c92c12
X:65483522 HEPH C>T	X	65483522	65483522	C	T	HEPH	c.3398C>T	NM_138737.4	NP_620074.3:p.(Thr1133Ile)	NC_000023.10:g.65483522C>T	(Likely) benign	1 lab	3d060c5e54
5:82816020 VCAN C>A	5	82816020	82816020	C	A	VCAN	c.1895C>A	NM_004385.4	NP_004376.2:p.(Thr632Lys)	NC_000005.9:g.82816020C>A	(Likely) benign	1 lab	3d064e3357
13:110804790 COL4A1 C>T	13	110804790	110804790	C	T	COL4A1	c.4819G>A	NM_001845.5	NP_001836.3:p.(Glu1607Lys)	NC_000013.10:g.110804790C>T	VUS	1 lab	3d0676531c
21:45941761 TSPEAR C>T	21	45941761	45941761	C	T	TSPEAR	c.1362+5G>A	NM_001272037.1	NP_001258966.1:p.?	NC_000021.8:g.45941761C>T	(Likely) benign	1 lab	3d06bdbcf8
20:31374390 DNMT3B G>A	20	31374390	31374390	G	A	DNMT3B	c.389G>A	NM_006892.3	NP_008823.1:p.(Arg130His)	NC_000020.10:g.31374390G>A	(Likely) benign	1 lab	3d06be3498
X:69497254 ARR3 C>T	X	69497254	69497254	C	T	ARR3	c.484C>T	NM_004312.2	NP_004303.2:p.(Arg162Trp)	NC_000023.10:g.69497254C>T	VUS	1 lab	3d08272cc2
9:134467475 RAPGEF1 G>A	9	134467475	134467475	G	A	RAPGEF1	c.2270+11C>T	NM_198679.1	NP_941372.1:p.?	NC_000009.11:g.134467475G>A	(Likely) benign	1 lab	3d08b3c8d0
1:44401989 ARTN G>A	1	44401989	44401989	G	A	ARTN	c.239G>A	NM_057090.2	NP_476431.2:p.(Arg80His)	NC_000001.10:g.44401989G>A	(Likely) benign	1 lab	3d0919fa88
11:20622767 SLC6A5 C>T	11	20622767	20622767	C	T	SLC6A5	c.96C>T	NM_004211.4	NP_004202.3:p.(Pro32=)	NC_000011.9:g.20622767C>T	(Likely) benign	1 lab	3d0b03901a
19:34003548 PEPD C>T	19	34003548	34003548	C	T	PEPD	c.152G>A	NM_000285.3	NP_000276.2:p.(Gly51Glu)	NC_000019.9:g.34003548C>T	VUS	1 lab	3d0b8acf4d
X:38664202 MID1IP1 G>T	X	38664202	38664202	G	T	MID1IP1	c.3G>T	NM_021242.5	NP_067065.1:p.(Met1?)	NC_000023.10:g.38664202G>T	VUS	1 lab	3d0c15f97e
3:195794989 TFRC C>T	3	195794989	195794989	C	T	TFRC	c.814G>A	NM_003234.3	NP_003225.2:p.(Glu272Lys)	NC_000003.11:g.195794989C>T	(Likely) benign	1 lab	3d0c69f929
X:24006301 KLHL15 C>G	X	24006301	24006301	C	G	KLHL15	c.1552G>C	NM_030624.2	NP_085127.2:p.(Glu518Gln)	NC_000023.10:g.24006301C>G	(Likely) benign	1 lab	3d0cbbe0ea
X:8555994 ANOS1 C>A	X	8555994	8555994	C	A	ANOS1	c.567G>T	NM_000216.3	NP_000207.2:p.(Glu189Asp)	NC_000023.10:g.8555994C>A	VUS	1 lab	3d0cc22977
18:21124350 NPC1 A>G	18	21124350	21124350	A	G	NPC1	c.2088T>C	NM_000271.4	NP_000262.2:p.(Ala696=)	NC_000018.9:g.21124350A>G	(Likely) benign	1 lab	3d0e5d2b06
11:108198484 ATM A>T	11	108198484	108198484	A	T	ATM	c.7088A>T	NM_000051.3	NP_000042.3:p.(Lys2363Met)	NC_000011.9:g.108198484A>T	VUS	1 lab	3d0f03029f
19:17212808 MYO9B G>A	19	17212808	17212808	G	A	MYO9B	c.281G>A	NM_001130065.1	NP_001123537.1:p.(Arg94Gln)	NC_000019.9:g.17212808G>A	VUS	1 lab	3d152dac9f
17:76521134 DNAH17 C>T	17	76521134	76521134	C	T	DNAH17	c.3821G>A	NM_173628.3	NP_775899.3:p.(Arg1274Gln)	NC_000017.10:g.76521134C>T	VUS	1 lab	3d15888a2d
1:228675538 RNF187 C>A	1	228675538	228675538	C	A	RNF187	c.349C>A	NM_001010858.3	NP_001010858.2:p.(Pro117Thr)	NC_000001.10:g.228675538C>A	(Likely) benign	1 lab	3d15cd2304
17:1579805 PRPF8 G>A	17	1579805	1579805	G	A	PRPF8	c.2382C>T	NM_006445.3	NP_006436.3:p.(Tyr794=)	NC_000017.10:g.1579805G>A	(Likely) benign	1 lab	3d181d0b46
7:8183558 ICA1 C>T	7	8183558	8183558	C	T	ICA1	c.849G>A	NM_001136020.3	NP_001129492.1:p.(Lys283=)	NC_000007.13:g.8183558C>T	(Likely) benign	1 lab	3d190337bb
4:6296879 WFS1 C>T	4	6296879	6296879	C	T	WFS1	c.824C>T	NM_006005.3	NP_005996.2:p.(Ala275Val)	NC_000004.11:g.6296879C>T	VUS	1 lab	3d19674b3c
X:71846869 PHKA1 A>G	X	71846869	71846869	A	G	PHKA1	c.1745T>C	NM_002637.3	NP_002628.2:p.(Ile582Thr)	NC_000023.10:g.71846869A>G	VUS	1 lab	3d19ba9c00
19:1495375 REEP6 C>T	19	1495375	1495375	C	T	REEP6	c.198C>T	NM_001329556.2	NP_001316485.1:p.(Pro66=)	NC_000019.9:g.1495375C>T	(Likely) benign	1 lab	3d1e50ef9d
1:55472790 BSND G>T	1	55472790	55472790	G	T	BSND	c.393G>T	NM_057176.3	NP_476517.1:p.(Leu131Phe)	NC_000001.10:g.55472790G>T	VUS	1 lab	3d1f75f528
7:148106477 CNTNAP2 C>CTCTG	7	148106477	148106479	C	CTCTG	CNTNAP2	c.3716-5_3716-4insCTGT	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.148106478_148106479insCTGT	(Likely) benign	1 lab	3d235efafd
X:41205600 DDX3X G>A	X	41205600	41205600	G	A	DDX3X	c.876G>A	NM_001363819.1	NP_001350748.1:p.(Arg292=)	NC_000023.10:g.41205600G>A	(Likely) benign	1 lab	3d295c20ff
1:197069826 ASPM T>C	1	197069826	197069826	T	C	ASPM	c.8555A>G	NM_018136.4	NP_060606.3:p.(Tyr2852Cys)	NC_000001.10:g.197069826T>C	VUS	1 lab	3d29cb9687
2:179474623 TTN C>G	2	179474623	179474623	C	G	TTN	c.51527G>C	NM_001267550.1	NP_001254479.1:p.(Gly17176Ala)	NC_000002.11:g.179474623C>G	VUS	1 lab	3d2a69f336
X:21627625 CNKSR2 C>T	X	21627625	21627625	C	T	CNKSR2	c.2582C>T	NM_014927.4	NP_055742.2:p.(Pro861Leu)	NC_000023.10:g.21627625C>T	VUS	1 lab	3d2c2c91b7
4:151773178 LRBA A>G	4	151773178	151773178	A	G	LRBA	c.3684T>C	NM_001199282.2	NP_001186211.2:p.(Cys1228=)	NC_000004.11:g.151773178A>G	(Likely) benign	1 lab	3d2e36cc46
3:186980366 MASP1 C>T	3	186980366	186980366	C	T	MASP1	c.380G>A	NM_001879.5	NP_001870.3:p.(Arg127His)	NC_000003.11:g.186980366C>T	VUS	1 lab	3d300ea2f7
6:80203325 LCA5 C>G	6	80203325	80203325	C	G	LCA5	c.858+5G>C	NM_181714.3	NP_859065.2:p.?	NC_000006.11:g.80203325C>G	(Likely) benign	1 lab	3d30644e62
13:33315210 PDS5B A>T	13	33315210	33315210	A	T	PDS5B	c.2407-8A>T	NM_015032.3	NP_055847.1:p.?	NC_000013.10:g.33315210A>T	(Likely) benign	1 lab	3d309b637f
X:8138101 VCX2 A>T	X	8138101	8138101	A	T	VCX2	c.392T>A	NM_016378.3	NP_057462.2:p.(Phe131Tyr)	NC_000023.10:g.8138101A>T	(Likely) benign	1 lab	3d30b1e8fb
16:8906872 PMM2 T>C	16	8906872	8906872	T	C	PMM2	c.548T>C	NM_000303.3	NP_000294.1:p.(Phe183Ser)	NC_000016.9:g.8906872T>C	(Likely) pathogenic	1 lab	ec2b354dd5
18:12351419 AFG3L2 G>C	18	12351419	12351419	G	C	AFG3L2	c.1319-7C>G	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12351419G>C	(Likely) benign	1 lab	3d33abf675
18:8380382 PTPRM A>G	18	8380382	8380382	A	G	PTPRM	c.3875A>G	NM_001105244.1	NP_001098714.1:p.(His1292Arg)	NC_000018.9:g.8380382A>G	VUS	1 lab	3d38841ff4
14:64619423 SYNE2 G>A	14	64619423	64619423	G	A	SYNE2	c.15781G>A	NM_182914.2	NP_878918.2:p.(Val5261Ile)	NC_000014.8:g.64619423G>A	(Likely) benign	1 lab	3d38ebc4c8
8:1719773 CLN8 T>C	8	1719773	1719773	T	C	CLN8	c.543+10T>C	NM_018941.3	NP_061764.2:p.?	NC_000008.10:g.1719773T>C	(Likely) benign	1 lab	3d3a2e9056
4:151231390 LRBA T>C	4	151231390	151231390	T	C	LRBA	c.7840A>G	NM_001199282.2	NP_001186211.2:p.(Thr2614Ala)	NC_000004.11:g.151231390T>C	VUS	1 lab	3d3ba3fa57
2:170027153 LRP2 T>A	2	170027153	170027153	T	A	LRP2	c.11288A>T	NM_004525.3	NP_004516.2:p.(Glu3763Val)	NC_000002.11:g.170027153T>A	VUS	1 lab	3d3ba8b383
4:619537 PDE6B C>G	4	619537	619537	C	G	PDE6B	c.122C>G	NM_000283.3	NP_000274.2:p.(Pro41Arg)	NC_000004.11:g.619537C>G	(Likely) pathogenic	1 lab	3d3c6b8719
10:112362693 SMC3 G>A	10	112362693	112362693	G	A	SMC3	c.3408G>A	NM_005445.3	NP_005436.1:p.(Pro1136=)	NC_000010.10:g.112362693G>A	(Likely) benign	1 lab	3d3ded3cd0
1:3751489 CEP104 G>A	1	3751489	3751489	G	A	CEP104	c.1485C>T	NM_014704.3	NP_055519.1:p.(Ser495=)	NC_000001.10:g.3751489G>A	VUS	1 lab	58b2dbc110
X:153135121 L1CAM G>A	X	153135121	153135121	G	A	L1CAM	c.1124-3C>T	NM_001278116.1	NP_001265045.1:p.?	NC_000023.10:g.153135121G>A	VUS	1 lab	3d41a15062
14:105410551 AHNAK2 G>T	14	105410551	105410551	G	T	AHNAK2	c.11237C>A	NM_138420.3	NP_612429.2:p.(Pro3746His)	NC_000014.8:g.105410551G>T	VUS	1 lab	3d425abf84
X:49143522 PPP1R3F G>A	X	49143522	49143522	G	A	PPP1R3F	c.2370G>A	NM_033215.4	NP_149992.3:p.(Ala790=)	NC_000023.10:g.49143522G>A	(Likely) benign	1 lab	3d42b7d562
6:32017770 TNXB C>T	6	32017770	32017770	C	T	TNXB	c.9433+5G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32017770C>T	VUS	1 lab	ec2daf9686
6:90513085 MDN1 C>T	6	90513085	90513085	C	T	MDN1	c.291G>A	NM_014611.2	NP_055426.1:p.(Ser97=)	NC_000006.11:g.90513085C>T	(Likely) benign	1 lab	3d44858217
X:71839075 PHKA1 G>T	X	71839075	71839075	G	T	PHKA1	c.2218C>A	NM_002637.3	NP_002628.2:p.(Gln740Lys)	NC_000023.10:g.71839075G>T	(Likely) benign	1 lab	3d4917e611
7:141752730 MGAM G>A	7	141752730	141752730	G	A	MGAM	c.3105G>A	NM_004668.2	NP_004659.2:p.(Val1035=)	NC_000007.13:g.141752730G>A	(Likely) benign	1 lab	3d4a5152db
17:29657328 NF1 ATCT>A	17	29657328	29657334	ATCT	A	NF1	c.5628_5630del	NM_001042492.3	NP_001035957.1:p.(Leu1877del)	NC_000017.10:g.29657332_29657334del	(Likely) pathogenic	1 lab	3d4ac18614
17:41244866 BRCA1 T>C	17	41244866	41244866	T	C	BRCA1	c.2682A>G	NM_007294.3	NP_009225.1:p.(Lys894=)	NC_000017.10:g.41244866T>C	(Likely) benign	1 lab	3d4ade1850
X:65392263 HEPH T>C	X	65392263	65392263	T	C	HEPH	c.396T>C	NM_138737.4	NP_620074.3:p.(Tyr132=)	NC_000023.10:g.65392263T>C	(Likely) benign	1 lab	3d4b37edbe
15:102182738 TM2D3 C>T	15	102182738	102182738	C	T	TM2D3	c.688G>A	NM_078474.3	NP_510883.2:p.(Val230Ile)	NC_000015.9:g.102182738C>T	VUS	1 lab	3d4bfaee8f
X:153717022 SLC10A3 G>A	X	153717022	153717022	G	A	SLC10A3	c.258C>T	NM_019848.4	NP_062822.1:p.(Ile86=)	NC_000023.10:g.153717022G>A	(Likely) benign	1 lab	3d5028367d
16:23403834 COG7 C>T	16	23403834	23403834	C	T	COG7	c.2013G>A	NM_153603.3	NP_705831.1:p.(Leu671=)	NC_000016.9:g.23403834C>T	(Likely) benign	1 lab	3d50f9eaf4
8:65711134 CYP7B1 T>A	8	65711134	65711134	T	A	CYP7B1	c.11A>T	NM_004820.4	NP_004811.1:p.(Glu4Val)	NC_000008.10:g.65711134T>A	(Likely) benign	1 lab	3d5329de03
16:57687918 ADGRG1 C>T	16	57687918	57687918	C	T	ADGRG1	c.641C>T	NM_005682.6	NP_005673.3:p.(Ser214Leu)	NC_000016.9:g.57687918C>T	VUS	1 lab	3d56ba4d1a
18:12725466 PSMG2 G>A	18	12725466	12725466	G	A	PSMG2	c.731G>A	NM_020232.5	NP_064617.2:p.(Arg244Gln)	NC_000018.9:g.12725466G>A	(Likely) benign	1 lab	3d576bc8ca
9:135772999 TSC1 T>TTA	9	135772999	135773000	T	TTA	TSC1	c.2626-3_2626-2insTA	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135772999_135773000insTA	(Likely) benign	1 lab	ec2eef13c4
7:107601648 LAMB1 T>TAA	7	107601648	107601650	T	TAA	LAMB1	c.2109+2_2109+3insTT	NM_002291.2	NP_002282.2:p.?	NC_000007.13:g.107601649_107601650insAA	VUS	1 lab	3d57c8526d
7:139636070 TBXAS1 C>G	7	139636070	139636070	C	G	TBXAS1	c.417C>G	NM_001130966.2	NP_001124438.1:p.(Ala139=)	NC_000007.13:g.139636070C>G	VUS	1 lab	3d59225242
6:112508648 LAMA4 G>C	6	112508648	112508648	G	C	LAMA4	c.966+4C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112508648G>C	(Likely) benign	1 lab	ec308c7348
2:179642689 TTN G>A	2	179642689	179642689	G	A	TTN	c.4222C>T	NM_001267550.1	NP_001254479.1:p.(Arg1408Cys)	NC_000002.11:g.179642689G>A	VUS	1 lab	3d5bd89593
17:4837181 GP1BA TCAGAGCCCGCC>T	17	4837181	4837193	TCAGAGCCCGCC	T	GP1BA	c.1284_1294del	NM_000173.7	NP_000164.5:p.(Glu429GlnfsTer65)	NC_000017.10:g.4837183_4837193del	(Likely) benign	1 lab	3d5be636dc
X:151900216 MAGEA12 G>A	X	151900216	151900216	G	A	MAGEA12	c.585C>T	NM_001166386.3	NP_001159858.1:p.(Ile195=)	NC_000023.10:g.151900216G>A	(Likely) benign	1 lab	3d5c6e54e4
9:135205511 SETX A>C	9	135205511	135205511	A	C	SETX	c.1474T>G	NM_015046.5	NP_055861.3:p.(Cys492Gly)	NC_000009.11:g.135205511A>C	VUS	1 lab	3d5ef55cbc
11:67397302 NUDT8 CGCGCGGAGCCGGGCCGT>C	11	67397302	67397320	CGCGCGGAGCCGGGCCGT	C	NUDT8	c.64_80del	NM_001243750.2	NP_001230679.1:p.(Thr22AlafsTer48)	NC_000011.9:g.67397304_67397320del	VUS	1 lab	3d6024517f
8:11996094 USP17L2 G>C	8	11996094	11996094	G	C	USP17L2	c.176C>G	NM_201402.2	NP_958804.2:p.(Ala59Gly)	NC_000008.10:g.11996094G>C	(Likely) benign	1 lab	3d60a4f0b9
10:61898786 ANK3 A>G	10	61898786	61898786	A	G	ANK3	c.2674T>C	NM_020987.5	NP_066267.2:p.(Leu892=)	NC_000010.10:g.61898786A>G	(Likely) benign	1 lab	3d60d21d63
16:51175004 SALL1 CT>C	16	51175004	51175005	CT	C	SALL1	c.1128del	NM_002968.3	NP_002959.2:p.(Ala377LeufsTer4)	NC_000016.9:g.51175005del	(Likely) pathogenic	1 lab	3d62931b54
18:67776932 RTTN G>A	18	67776932	67776932	G	A	RTTN	c.3705C>T	NM_173630.3	NP_775901.3:p.(Tyr1235=)	NC_000018.9:g.67776932G>A	(Likely) benign	1 lab	3d6712ed66
17:18028545 MYO15A C>T	17	18028545	18028545	C	T	MYO15A	c.3756C>T	NM_016239.3	NP_057323.3:p.(Tyr1252=)	NC_000017.10:g.18028545C>T	(Likely) benign	1 lab	3d6792a936
1:1957037 GABRD T>C	1	1957037	1957037	T	C	GABRD	c.330T>C	NM_000815.5	NP_000806.2:p.(Gly110=)	NC_000001.10:g.1957037T>C	(Likely) benign	1 lab	ec33464188
14:45644383 FANCM T>G	14	45644383	45644383	T	G	FANCM	c.2426T>G	NM_020937.2	NP_065988.1:p.(Phe809Cys)	NC_000014.8:g.45644383T>G	(Likely) benign	1 lab	3d6913b496
19:41114207 LTBP4 G>A	19	41114207	41114207	G	A	LTBP4	c.1439G>A	NM_001042544.1	NP_001036009.1:p.(Gly480Asp)	NC_000019.9:g.41114207G>A	(Likely) benign	1 lab	3d69a1e733
1:12057405 MFN2 G>A	1	12057405	12057405	G	A	MFN2	c.526G>A	NM_014874.3	NP_055689.1:p.(Gly176Ser)	NC_000001.10:g.12057405G>A	VUS	1 lab	3d6af2f051
2:220288549 DES G>C	2	220288549	220288549	G	C	DES	c.1288+7G>C	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220288549G>C	(Likely) benign	1 lab	3d6bfd3e90
17:18034131 MYO15A A>AGTGT	17	18034131	18034185	A	AGTGT	MYO15A	c.4038+58_4038+61dup	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18034182_18034185dup	(Likely) benign	1 lab	3d6c246e3e
8:119122489 EXT1 AATACCAGC>A	8	119122489	119122499	AATACCAGC	A	EXT1	c.789_796del	NM_000127.3	NP_000118.2:p.(Met263IlefsTer23)	NC_000008.10:g.119122492_119122499del	(Likely) pathogenic	1 lab	3d6d7f3114
1:186276075 PRG4 T>C	1	186276075	186276075	T	C	PRG4	c.1224T>C	NM_005807.6	NP_005798.3:p.(Thr408=)	NC_000001.10:g.186276075T>C	(Likely) benign	1 lab	ec33c450d4
12:106827639 POLR3B A>G	12	106827639	106827639	A	G	POLR3B	c.1770A>G	NM_018082.5	NP_060552.4:p.(Gly590=)	NC_000012.11:g.106827639A>G	(Likely) benign	1 lab	3d6ef6dfd3
X:153033311 PLXNB3 C>T	X	153033311	153033311	C	T	PLXNB3	c.1098C>T	NM_001163257.1	NP_001156729.1:p.(Gly366=)	NC_000023.10:g.153033311C>T	(Likely) benign	1 lab	3d6f33b46d
1:152281979 FLG C>T	1	152281979	152281979	C	T	FLG	c.5383G>A	NM_002016.1	NP_002007.1:p.(Glu1795Lys)	NC_000001.10:g.152281979C>T	(Likely) benign	1 lab	3d6fe33da2
7:4830220 AP5Z1 G>A	7	4830220	4830220	G	A	AP5Z1	c.1936G>A	NM_014855.3	NP_055670.1:p.(Val646Met)	NC_000007.13:g.4830220G>A	VUS	1 lab	3d733067d0
X:53459033 HSD17B10 C>T	X	53459033	53459033	C	T	HSD17B10	c.389G>A	NM_004493.3	NP_004484.1:p.(Arg130His)	NC_000023.10:g.53459033C>T	(Likely) pathogenic	1 lab	ec365b9ae8
15:71953074 THSD4 GTAAGCTTGGTCT>G	15	71953074	71953087	GTAAGCTTGGTCT	G	THSD4	c.1357+3_1357+14del	NM_024817.3	NP_079093.2:p.?	NC_000015.9:g.71953076_71953087del	VUS	1 lab	3d75468330
6:56380391 DST G>A	6	56380391	56380391	G	A	DST	c.12076C>T	NM_001144769.2	NP_001138241.1:p.(Arg4026Trp)	NC_000006.11:g.56380391G>A	VUS	1 lab	3d75a4257f
7:75616408 TMEM120A G>A	7	75616408	75616408	G	A	TMEM120A	c.1052C>T	NM_001317803.1	NP_001304732.1:p.(Ala351Val)	NC_000007.13:g.75616408G>A	(Likely) benign	1 lab	3d76133e36
1:152277629 FLG C>A	1	152277629	152277629	C	A	FLG	c.9733G>T	NM_002016.1	NP_002007.1:p.(Glu3245Ter)	NC_000001.10:g.152277629C>A	VUS	1 lab	3d78bf56fa
9:123165150 CDK5RAP2 G>A	9	123165150	123165150	G	A	CDK5RAP2	c.5241C>T	NM_018249.5	NP_060719.4:p.(Leu1747=)	NC_000009.11:g.123165150G>A	(Likely) benign	1 lab	3d7998fc8b
16:2546356 TBC1D24 T>C	16	2546356	2546356	T	C	TBC1D24	c.207T>C	NM_001199107.1	NP_001186036.1:p.(Pro69=)	NC_000016.9:g.2546356T>C	(Likely) benign	1 lab	3d79e9013b
1:9780920 PIK3CD C>T	1	9780920	9780920	C	T	PIK3CD	c.1642C>T	NM_005026.3	NP_005017.3:p.(Arg548Trp)	NC_000001.10:g.9780920C>T	VUS	1 lab	3d7aa363e0
7:137791354 AKR1D1 G>A	7	137791354	137791354	G	A	AKR1D1	c.580G>A	NM_005989.4	NP_005980.1:p.(Val194Ile)	NC_000007.13:g.137791354G>A	VUS	1 lab	ec39b5494c
16:88923175 GALNS G>A	16	88923175	88923175	G	A	GALNS	c.111C>T	NM_000512.4	NP_000503.1:p.(Leu37=)	NC_000016.9:g.88923175G>A	(Likely) benign	1 lab	3d7c7f5552
X:149931164 MTMR1 C>T	X	149931164	149931164	C	T	MTMR1	c.2011C>T	NM_001353990.1	NP_001340919.1:p.(Pro671Ser)	NC_000023.10:g.149931164C>T	(Likely) benign	1 lab	3d7fbdddd2
2:179398035 TTN A>T	2	179398035	179398035	A	T	TTN	c.103307T>A	NM_001267550.2	NP_001254479.2:p.(Val34436Asp)	NC_000002.11:g.179398035A>T	VUS	1 lab	ec3a0433ac
6:7578040 DSP C>T	6	7578040	7578040	C	T	DSP	c.2906C>T	NM_004415.2	NP_004406.2:p.(Thr969Ile)	NC_000006.11:g.7578040C>T	VUS	1 lab	3d802c72af
14:50655227 SOS2 C>T	14	50655227	50655227	C	T	SOS2	c.702G>A	NM_006939.3	NP_008870.2:p.(Leu234=)	NC_000014.8:g.50655227C>T	(Likely) benign	1 lab	3d80fbc78e
22:50988259 KLHDC7B C>G	22	50988259	50988259	C	G	KLHDC7B	c.3587C>G	NM_138433.4	NP_612442.3:p.(Ser1196Cys)	NC_000022.10:g.50988259C>G	VUS	1 lab	3d819c0c43
16:2120527 TSC2 T>TCCA	16	2120527	2120531	T	TCCA	TSC2	c.1789_1791dup	NM_000548.3	NP_000539.2:p.(His597dup)	NC_000016.9:g.2120529_2120531dup	(Likely) pathogenic	1 lab	3d824ac295
1:52840479 ORC1 C>A	1	52840479	52840479	C	A	ORC1	c.2391+3G>T	NM_004153.3	NP_004144.2:p.?	NC_000001.10:g.52840479C>A	VUS	1 lab	3d826faf3f
1:27878157 AHDC1 G>A	1	27878157	27878157	G	A	AHDC1	c.470C>T	NM_001029882.3	NP_001025053.1:p.(Ala157Val)	NC_000001.10:g.27878157G>A	(Likely) benign	1 lab	3d82e3b38c
3:58117748 FLNB T>C	3	58117748	58117748	T	C	FLNB	c.4483+2T>C	NM_001164317.1	NP_001157789.1:p.?	NC_000003.11:g.58117748T>C	VUS	1 lab	3d82e9ca49
7:107626726 LAMB1 T>C	7	107626726	107626726	T	C	LAMB1	c.506A>G	NM_002291.2	NP_002282.2:p.(Asp169Gly)	NC_000007.13:g.107626726T>C	VUS	1 lab	3d83da9d43
19:10472598 TYK2 C>T	19	10472598	10472598	C	T	TYK2	c.1807G>A	NM_003331.4	NP_003322.3:p.(Val603Met)	NC_000019.9:g.10472598C>T	VUS	1 lab	3d86bbdf85
5:122724223 CEP120 T>A	5	122724223	122724223	T	A	CEP120	c.1333A>T	NM_153223.3	NP_694955.2:p.(Ile445Phe)	NC_000005.9:g.122724223T>A	VUS	1 lab	3d87343346
1:116310986 CASQ2 C>A	1	116310986	116310986	C	A	CASQ2	c.177G>T	NM_001232.3	NP_001223.2:p.(Pro59=)	NC_000001.10:g.116310986C>A	(Likely) benign	1 lab	3d87b942bd
4:109784487 COL25A1 G>A	4	109784487	109784487	G	A	COL25A1	c.1140C>T	NM_198721.3	NP_942014.1:p.(Ala380=)	NC_000004.11:g.109784487G>A	(Likely) benign	1 lab	3d88b43fad
2:211454901 CPS1 C>T	2	211454901	211454901	C	T	CPS1	c.783C>T	NM_001875.4	NP_001866.2:p.(Ile261=)	NC_000002.11:g.211454901C>T	(Likely) benign	1 lab	3d8bd5c5b4
6:31911231 C2 C>T	6	31911231	31911231	C	T	C2	c.1407C>T	NM_001282458.1	NP_001269387.1:p.(Ser469=)	NC_000006.11:g.31911231C>T	(Likely) benign	1 lab	3d910d081b
16:2138058 TSC2 G>A	16	2138058	2138058	G	A	TSC2	c.5009G>A	NM_001114382.2	NP_001107854.1:p.(Gly1670Asp)	NC_000016.9:g.2138058G>A	VUS	1 lab	3d9143cadb
1:1470811 TMEM240 C>T	1	1470811	1470811	C	T	TMEM240	c.450G>A	NM_001114748.1	NP_001108220.1:p.(Glu150=)	NC_000001.10:g.1470811C>T	(Likely) benign	1 lab	3d91a178f3
X:77268586 ATP7A C>T	X	77268586	77268586	C	T	ATP7A	c.2383C>T	NM_000052.6	NP_000043.4:p.(Arg795Ter)	NC_000023.10:g.77268586C>T	(Likely) pathogenic	1 lab	3d92050ae6
2:170062946 LRP2 A>C	2	170062946	170062946	A	C	LRP2	c.7284T>G	NM_004525.3	NP_004516.2:p.(Ser2428Arg)	NC_000002.11:g.170062946A>C	(Likely) benign	1 lab	ec3f83a253
22:37333648 CSF2RB C>T	22	37333648	37333648	C	T	CSF2RB	c.1798C>T	NM_000395.2	NP_000386.1:p.(Arg600Cys)	NC_000022.10:g.37333648C>T	(Likely) benign	1 lab	3d9615b264
15:65489662 CILP G>A	15	65489662	65489662	G	A	CILP	c.2962C>T	NM_003613.3	NP_003604.3:p.(Arg988Ter)	NC_000015.9:g.65489662G>A	(Likely) pathogenic	1 lab	3d991bcfde
4:41749402 PHOX2B C>G	4	41749402	41749402	C	G	PHOX2B	c.393G>C	NM_003924.4	NP_003915.2:p.(Leu131=)	NC_000004.11:g.41749402C>G	(Likely) benign	1 lab	ec40ebdb81
20:47588949 ARFGEF2 G>A	20	47588949	47588949	G	A	ARFGEF2	c.1512G>A	NM_006420.2	NP_006411.2:p.(Thr504=)	NC_000020.10:g.47588949G>A	(Likely) benign	1 lab	3d9b33fdf9
13:23929189 SACS C>G	13	23929189	23929189	C	G	SACS	c.1562G>C	NM_014363.5	NP_055178.3:p.(Ser521Thr)	NC_000013.10:g.23929189C>G	(Likely) benign	1 lab	3d9b6f35b7
22:19748508 TBX1 G>A	22	19748508	19748508	G	A	TBX1	c.115G>A	NM_080647.1	NP_542378.1:p.(Gly39Ser)	NC_000022.10:g.19748508G>A	(Likely) benign	1 lab	3d9c12865a
3:45559518 LARS2 C>A	3	45559518	45559518	C	A	LARS2	c.2168C>A	NM_015340.4	NP_056155.1:p.(Ala723Asp)	NC_000003.11:g.45559518C>A	(Likely) benign	1 lab	3d9c15abab
1:47735280 STIL T>C	1	47735280	47735280	T	C	STIL	c.2615+27A>G	NM_001048166.1	NP_001041631.1:p.?	NC_000001.10:g.47735280T>C	(Likely) benign	1 lab	3d9cf98814
2:74077640 STAMBP T>C	2	74077640	74077640	T	C	STAMBP	c.600T>C	NM_001353976.1	NP_001340905.1:p.(His200=)	NC_000002.11:g.74077640T>C	(Likely) benign	1 lab	3d9ee2a32f
3:46003832 FYCO1 T>C	3	46003832	46003832	T	C	FYCO1	c.3322A>G	NM_024513.3	NP_078789.2:p.(Lys1108Glu)	NC_000003.11:g.46003832T>C	VUS	1 lab	3d9febeb7c
9:34489437 DNAI1 A>G	9	34489437	34489437	A	G	DNAI1	c.378A>G	NM_012144.3	NP_036276.1:p.(Glu126=)	NC_000009.11:g.34489437A>G	(Likely) benign	1 lab	3da0f198ab
11:74953083 TPBGL G>A	11	74953083	74953083	G	A	TPBGL	c.989G>A	NM_001195528.1	NP_001182457.1:p.(Arg330His)	NC_000011.9:g.74953083G>A	VUS	1 lab	3da15c5c9b
19:50098646 PRR12 A>C	19	50098646	50098646	A	C	PRR12	c.1054A>C	NM_020719.2	NP_065770.1:p.(Ser352Arg)	NC_000019.9:g.50098646A>C	VUS	1 lab	3da218f1f9
8:145584494 SLC52A2 TCTC>T	8	145584494	145584499	TCTC	T	SLC52A2	c.1160_1162del	NM_001363118.2	NP_001350047.1:p.(Ser387del)	NC_000008.10:g.145584497_145584499del	VUS	1 lab	3da2243184
19:15278108 NOTCH3 G>C	19	15278108	15278108	G	C	NOTCH3	c.5314C>G	NM_000435.2	NP_000426.2:p.(Gln1772Glu)	NC_000019.9:g.15278108G>C	VUS	1 lab	3da26d645e
5:90149108 ADGRV1 A>G	5	90149108	90149108	A	G	ADGRV1	c.17212A>G	NM_032119.4	NP_115495.3:p.(Thr5738Ala)	NC_000005.9:g.90149108A>G	VUS	1 lab	3da3520a33
2:149247339 MBD5 C>T	2	149247339	149247339	C	T	MBD5	c.3439C>T	NM_018328.4	NP_060798.2:p.(Arg1147Trp)	NC_000002.11:g.149247339C>T	VUS	1 lab	3da4825af5
X:153599544 FLNA G>A	X	153599544	153599544	G	A	FLNA	c.70C>T	NM_001110556.2	NP_001104026.1:p.(Arg24Trp)	NC_000023.10:g.153599544G>A	VUS	1 lab	ec413d61f2
10:74992840 FAM149B1 G>A	10	74992840	74992840	G	A	FAM149B1	c.1271G>A	NM_173348.2	NP_775483.1:p.(Arg424Gln)	NC_000010.10:g.74992840G>A	(Likely) benign	1 lab	ec44b30164
19:11346278 DOCK6 C>G	19	11346278	11346278	C	G	DOCK6	c.2550G>C	NM_020812.3	NP_065863.2:p.(Pro850=)	NC_000019.9:g.11346278C>G	(Likely) benign	1 lab	3da60ab9c2
18:56018261 NEDD4L G>A	18	56018261	56018261	G	A	NEDD4L	c.1329G>A	NM_001144964.1	NP_001138436.1:p.(Thr443=)	NC_000018.9:g.56018261G>A	(Likely) benign	1 lab	3da64ad99f
9:140611346 EHMT1 T>G	9	140611346	140611346	T	G	EHMT1	c.354T>G	NM_024757.4	NP_079033.4:p.(Ser118=)	NC_000009.11:g.140611346T>G	(Likely) benign	1 lab	3da722f753
X:71427525 ERCC6L T>C	X	71427525	71427525	T	C	ERCC6L	c.723A>G	NM_001009954.2	NP_001009954.1:p.(Lys241=)	NC_000023.10:g.71427525T>C	(Likely) benign	1 lab	3da72cb65c
11:46897455 LRP4 G>A	11	46897455	46897455	G	A	LRP4	c.3599C>T	NM_002334.3	NP_002325.2:p.(Ser1200Leu)	NC_000011.9:g.46897455G>A	VUS	1 lab	3da75583d0
X:47082954 CDK16 G>A	X	47082954	47082954	G	A	CDK16	c.16G>A	NM_033018.3	NP_148978.2:p.(Ala6Thr)	NC_000023.10:g.47082954G>A	(Likely) benign	1 lab	3da962206c
4:9270204 USP17L22 C>T	4	9270204	9270204	C	T	USP17L22	c.860C>T	NM_001256863.1	NP_001243792.1:p.(Thr287Ile)	NC_000004.11:g.9270204C>T	(Likely) benign	1 lab	3da9de9021
1:17312777 ATP13A2 T>C	1	17312777	17312777	T	C	ATP13A2	c.3467A>G	NM_001141973.2	NP_001135445.1:p.(Gln1156Arg)	NC_000001.10:g.17312777T>C	(Likely) benign	1 lab	3daa30a3a0
16:2129410 TSC2 C>T	16	2129410	2129410	C	T	TSC2	c.3265C>T	NM_000548.3	NP_000539.2:p.(Gln1089Ter)	NC_000016.9:g.2129410C>T	(Likely) pathogenic	1 lab	3daccd3b26
4:76782056 PPEF2 C>T	4	76782056	76782056	C	T	PPEF2	c.2026G>A	NM_006239.3	NP_006230.2:p.(Glu676Lys)	NC_000004.11:g.76782056C>T	VUS	1 lab	3dad59708a
6:79735658 PHIP A>G	6	79735658	79735658	A	G	PHIP	c.822+2T>C	NM_017934.6	NP_060404.4:p.?	NC_000006.11:g.79735658A>G	(Likely) pathogenic	1 lab	3dadc07343
9:108370128 FKTN G>A	9	108370128	108370128	G	A	FKTN	c.280G>A	NM_001351502.1	NP_001338431.1:p.(Gly94Arg)	NC_000009.11:g.108370128G>A	VUS	1 lab	3dae86b296
1:44063714 PTPRF C>T	1	44063714	44063714	C	T	PTPRF	c.2109C>T	NM_002840.4	NP_002831.2:p.(Thr703=)	NC_000001.10:g.44063714C>T	(Likely) benign	1 lab	3dae9258f8
22:21342363 LZTR1 C>G	22	21342363	21342363	C	G	LZTR1	c.465C>G	NM_006767.4	NP_006758.2:p.(Tyr155Ter)	NC_000022.10:g.21342363C>G	(Likely) pathogenic	1 lab	ec4613ae61
8:87591429 CNGB3 G>A	8	87591429	87591429	G	A	CNGB3	c.1833C>T	NM_019098.4	NP_061971.3:p.(His611=)	NC_000008.10:g.87591429G>A	(Likely) benign	1 lab	3db009dbec
2:179472292 TTN TT>AC	2	179472292	179472293	TT	AC	TTN	c.53122_53123delinsGT	NM_001267550.1	NP_001254479.1:p.(Lys17708Val)	NC_000002.11:g.179472292_179472293delinsAC	(Likely) benign	1 lab	3db0c710d5
9:134388668 POMT1 C>T	9	134388668	134388668	C	T	POMT1	c.1191C>T	NM_007171.3	NP_009102.3:p.(His397=)	NC_000009.11:g.134388668C>T	(Likely) benign	1 lab	3db124c549
6:118880097 PLN C>G	6	118880097	118880097	C	G	PLN	c.13C>G	NM_002667.3	NP_002658.1:p.(Gln5Glu)	NC_000006.11:g.118880097C>G	VUS	1 lab	3db20cec24
19:10461785 TYK2 G>C	19	10461785	10461785	G	C	TYK2	c.3372C>G	NM_003331.4	NP_003322.3:p.(Leu1124=)	NC_000019.9:g.10461785G>C	(Likely) benign	1 lab	3db2ac1e5e
14:105414541 AHNAK2 A>C	14	105414541	105414541	A	C	AHNAK2	c.7247T>G	NM_138420.3	NP_612429.2:p.(Leu2416Arg)	NC_000014.8:g.105414541A>C	(Likely) benign	1 lab	3db385d601
5:127648414 FBN2 G>A	5	127648414	127648414	G	A	FBN2	c.4791C>T	NM_001999.3	NP_001990.2:p.(Ile1597=)	NC_000005.9:g.127648414G>A	(Likely) benign	1 lab	3db3a4ccd2
1:235856642 LYST G>C	1	235856642	235856642	G	C	LYST	c.10701+8C>G	NM_000081.3	NP_000072.2:p.?	NC_000001.10:g.235856642G>C	(Likely) benign	1 lab	3db6a84cce
2:74140692 ACTG2 C>T	2	74140692	74140692	C	T	ACTG2	c.532C>T	NM_001615.3	NP_001606.1:p.(Arg178Cys)	NC_000002.11:g.74140692C>T	(Likely) pathogenic	1 lab	3db6d97067
10:11505145 USP6NL AGAACTTGGCTCAGC>A	10	11505145	11505160	AGAACTTGGCTCAGC	A	USP6NL	c.1768_1781del	NM_014688.5	NP_055503.1:p.(Ala590Ter)	NC_000010.10:g.11505147_11505160del	VUS	1 lab	3db7620428
12:52960917 KRT74 G>A	12	52960917	52960917	G	A	KRT74	c.1426C>T	NM_175053.3	NP_778223.2:p.(Pro476Ser)	NC_000012.11:g.52960917G>A	(Likely) benign	1 lab	3dba27bdc7
X:41390347 CASK G>A	X	41390347	41390347	G	A	CASK	c.2418C>T	NM_003688.3	NP_003679.2:p.(His806=)	NC_000023.10:g.41390347G>A	(Likely) benign	1 lab	3dba7021b8
X:153692834 PLXNA3 G>A	X	153692834	153692834	G	A	PLXNA3	c.1918G>A	NM_017514.4	NP_059984.3:p.(Val640Ile)	NC_000023.10:g.153692834G>A	(Likely) benign	1 lab	3dbbaad3f7
9:138683882 KCNT1 C>T	9	138683882	138683882	C	T	KCNT1	c.3588-5C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138683882C>T	(Likely) benign	1 lab	3dbcdaf636
9:135779843 TSC1 T>A	9	135779843	135779843	T	A	TSC1	c.1998-2A>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135779843T>A	(Likely) pathogenic	1 lab	3dbd0152d5
7:155595901 SHH G>A	7	155595901	155595901	G	A	SHH	c.1082C>T	NM_000193.3	NP_000184.1:p.(Ala361Val)	NC_000007.13:g.155595901G>A	(Likely) benign	1 lab	3dbd464f48
9:138664694 KCNT1 G>A	9	138664694	138664694	G	A	KCNT1	c.2142G>A	NM_020822.2	NP_065873.2:p.(Leu714=)	NC_000009.11:g.138664694G>A	(Likely) benign	1 lab	3dbd9dc615
5:140230213 PCDHA9 G>A	5	140230213	140230213	G	A	PCDHA9	c.2133G>A	NM_014005.4	NP_054724.1:p.(Leu711=)	NC_000005.9:g.140230213G>A	(Likely) benign	1 lab	3dbda0fb73
11:46724598 ZNF408 C>T	11	46724598	46724598	C	T	ZNF408	c.457C>T	NM_024741.2	NP_079017.1:p.(Leu153Phe)	NC_000011.9:g.46724598C>T	VUS	1 lab	3dbe15cd70
2:15607494 NBAS G>A	2	15607494	15607494	G	A	NBAS	c.2056C>T	NM_015909.3	NP_056993.2:p.(Arg686Trp)	NC_000002.11:g.15607494G>A	VUS	1 lab	3dc1da2736
X:70516818 NONO C>T	X	70516818	70516818	C	T	NONO	c.864C>T	NM_001145408.1	NP_001138880.1:p.(Asn288=)	NC_000023.10:g.70516818C>T	(Likely) benign	1 lab	3dc1e3262c
16:2134418 TSC2 G>A	16	2134418	2134418	G	A	TSC2	c.4195G>A	NM_000548.3	NP_000539.2:p.(Gly1399Arg)	NC_000016.9:g.2134418G>A	(Likely) benign	1 lab	3dc1fc7a3d
10:64967864 JMJD1C A>G	10	64967864	64967864	A	G	JMJD1C	c.3565T>C	NM_032776.2	NP_116165.1:p.(Leu1189=)	NC_000010.10:g.64967864A>G	(Likely) benign	1 lab	3dc1ff2e85
X:114541041 LUZP4 A>C	X	114541041	114541041	A	C	LUZP4	c.614A>C	NM_016383.4	NP_057467.1:p.(His205Pro)	NC_000023.10:g.114541041A>C	(Likely) benign	1 lab	3dc33d3b28
15:77471761 PEAK1 G>C	15	77471761	77471761	G	C	PEAK1	c.2508C>G	NM_024776.3	NP_079052.2:p.(Asp836Glu)	NC_000015.9:g.77471761G>C	(Likely) benign	1 lab	3dc343dd31
X:48650373 GATA1 G>T	X	48650373	48650373	G	T	GATA1	c.343G>T	NM_002049.3	NP_002040.1:p.(Asp115Tyr)	NC_000023.10:g.48650373G>T	VUS	1 lab	3dc3bf54ed
7:138845778 IFT56 G>A	7	138845778	138845778	G	A	IFT56	c.802G>A	NM_001321742.1	NP_001308671.1:p.(Asp268Asn)	NC_000007.13:g.138845778G>A	(Likely) benign	1 lab	3dc3ebe461
14:73678499 PSEN1 C>T	14	73678499	73678499	C	T	PSEN1	c.978C>T	NM_000021.3	NP_000012.1:p.(Asp326=)	NC_000014.8:g.73678499C>T	(Likely) benign	1 lab	3dc444ede0
9:139916039 ABCA2 G>A	9	139916039	139916039	G	A	ABCA2	c.702C>T	NM_001606.5	NP_001597.2:p.(Leu234=)	NC_000009.11:g.139916039G>A	(Likely) benign	1 lab	3dc4771784
15:90172797 KIF7 G>A	15	90172797	90172797	G	A	KIF7	c.3326C>T	NM_198525.2	NP_940927.2:p.(Thr1109Met)	NC_000015.9:g.90172797G>A	VUS	1 lab	3dc4ad1897
X:44919287 KDM6A A>T	X	44919287	44919287	A	T	KDM6A	c.1215A>T	NM_001291415.1	NP_001278344.1:p.(Pro405=)	NC_000023.10:g.44919287A>T	(Likely) benign	1 lab	3dc4db1995
X:41201996 DDX3X CTT>C	X	41201996	41202000	CTT	C	DDX3X	c.453_454del	NM_001356.5	NP_001347.3:p.(Ser152TrpfsTer7)	NC_000023.10:g.41201999_41202000del	(Likely) pathogenic	1 lab	3dc51054eb
17:36614486 ARHGAP23 G>A	17	36614486	36614486	G	A	ARHGAP23	c.204G>A	NM_001199417.2	NP_001186346.1:p.(Ser68=)	NC_000017.10:g.36614486G>A	(Likely) benign	1 lab	3dc5a58625
12:109940978 UBE3B G>A	12	109940978	109940978	G	A	UBE3B	c.1433G>A	NM_130466.3	NP_569733.2:p.(Arg478Gln)	NC_000012.11:g.109940978G>A	VUS	1 lab	3dc7c8681a
2:179502120 TTN C>CTA	2	179502120	179502121	C	CTA	TTN	c.40902_40903insTA	NM_001267550.1	NP_001254479.1:p.(Ala13635Ter)	NC_000002.11:g.179502120_179502121insTA	(Likely) pathogenic	1 lab	3dc850fbb6
1:228363091 IBA57 C>T	1	228363091	228363091	C	T	IBA57	c.948C>T	NM_001010867.3	NP_001010867.1:p.(Asn316=)	NC_000001.10:g.228363091C>T	(Likely) benign	1 lab	3dc8f798bc
X:110653354 DCX CAG>C	X	110653354	110653359	CAG	C	DCX	c.271_272del	NM_001195553.2	NP_001182482.1:p.(Leu91ValfsTer2)	NC_000023.10:g.110653358_110653359del	(Likely) pathogenic	1 lab	3dc9d118f6
3:49051200 WDR6 A>G	3	49051200	49051200	A	G	WDR6	c.2155A>G	NM_001320546.2	NP_001307475.1:p.(Thr719Ala)	NC_000003.11:g.49051200A>G	VUS	1 lab	3dc9e35758
8:100454846 VPS13B G>A	8	100454846	100454846	G	A	VPS13B	c.3428G>A	NM_017890.5	NP_060360.3:p.(Arg1143Gln)	NC_000008.10:g.100454846G>A	VUS	1 lab	ec55203be7
17:7755291 KDM6B C>T	17	7755291	7755291	C	T	KDM6B	c.4188C>T	NM_001080424.2	NP_001073893.1:p.(Phe1396=)	NC_000017.10:g.7755291C>T	(Likely) benign	1 lab	3dcbcc0e6e
4:103585833 MANBA A>G	4	103585833	103585833	A	G	MANBA	c.1485+9T>C	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103585833A>G	(Likely) benign	1 lab	3dcc6fae78
3:38639353 SCN5A A>G	3	38639353	38639353	A	G	SCN5A	c.2129T>C	NM_001099404.1	NP_001092874.1:p.(Val710Ala)	NC_000003.11:g.38639353A>G	VUS	1 lab	3dce29cd3e
8:48885444 MCM4 C>T	8	48885444	48885444	C	T	MCM4	c.1956C>T	NM_005914.4	NP_005905.2:p.(Asp652=)	NC_000008.10:g.48885444C>T	(Likely) benign	1 lab	3dcf746f24
3:12977855 IQSEC1 C>T	3	12977855	12977855	C	T	IQSEC1	c.703G>A	NM_014869.8	NP_055684.3:p.(Ala235Thr)	NC_000003.11:g.12977855C>T	VUS	1 lab	ec5740f029
10:76781872 KAT6B A>G	10	76781872	76781872	A	G	KAT6B	c.3255A>G	NM_012330.3	NP_036462.2:p.(Glu1085=)	NC_000010.10:g.76781872A>G	(Likely) benign	1 lab	3dd28334e5
1:158636233 SPTA1 T>A	1	158636233	158636233	T	A	SPTA1	c.2093A>T	NM_003126.3	NP_003117.2:p.(Asp698Val)	NC_000001.10:g.158636233T>A	VUS	1 lab	3dd4864837
13:32905081 BRCA2 A>G	13	32905081	32905081	A	G	BRCA2	c.707A>G	NM_000059.3	NP_000050.2:p.(His236Arg)	NC_000013.10:g.32905081A>G	(Likely) benign	1 lab	3dd49b68d8
3:136046014 PCCB G>A	3	136046014	136046014	G	A	PCCB	c.1276G>A	NM_001178014.1	NP_001171485.1:p.(Gly426Arg)	NC_000003.11:g.136046014G>A	VUS	1 lab	3dd54d13ac
6:121602737 TBC1D32 T>C	6	121602737	121602737	T	C	TBC1D32	c.1561A>G	NM_001367759.1	NP_001354688.1:p.(Ile521Val)	NC_000006.11:g.121602737T>C	(Likely) benign	1 lab	3dd6936e22
2:109367730 RANBP2 A>G	2	109367730	109367730	A	G	RANBP2	c.1284A>G	NM_006267.4	NP_006258.3:p.(Arg428=)	NC_000002.11:g.109367730A>G	(Likely) benign	1 lab	3dd7643b10
14:91779774 CCDC88C G>A	14	91779774	91779774	G	A	CCDC88C	c.2386C>T	NM_001080414.3	NP_001073883.2:p.(Arg796Cys)	NC_000014.8:g.91779774G>A	VUS	1 lab	3dd7c910ad
16:88494210 ZNF469 G>A	16	88494210	88494210	G	A	ZNF469				NC_000016.9:g.88494210G>A	VUS	1 lab	3dd8c0b29f
2:27317394 KHK G>A	2	27317394	27317394	G	A	KHK	c.259G>A	NM_000221.2	NP_000212.1:p.(Val87Ile)	NC_000002.11:g.27317394G>A	(Likely) benign	1 lab	3dd9074e0d
2:31754468 SRD5A2 C>T	2	31754468	31754468	C	T	SRD5A2	c.607G>A	NM_000348.3	NP_000339.2:p.(Gly203Ser)	NC_000002.11:g.31754468C>T	(Likely) pathogenic	1 lab	3ddc4f6138
4:2831797 SH3BP2 G>A	4	2831797	2831797	G	A	SH3BP2	c.1248G>A	NM_001145855.2	NP_001139327.1:p.(Leu416=)	NC_000004.11:g.2831797G>A	(Likely) benign	1 lab	3ddc59bb2c
2:8871353 KIDINS220 C>T	2	8871353	8871353	C	T	KIDINS220	c.4813G>A	NM_020738.4	NP_065789.1:p.(Asp1605Asn)	NC_000002.11:g.8871353C>T	VUS	1 lab	ec5a673b3d
16:3823795 CREBBP C>G	16	3823795	3823795	C	G	CREBBP	c.2420G>C	NM_004380.2	NP_004371.2:p.(Ser807Thr)	NC_000016.9:g.3823795C>G	VUS	1 lab	3ddd4cbf34
1:152277405 FLG C>T	1	152277405	152277405	C	T	FLG	c.9957G>A	NM_002016.1	NP_002007.1:p.(Pro3319=)	NC_000001.10:g.152277405C>T	(Likely) benign	1 lab	3ddd8fa170
1:12942201 PRAMEF4 C>A	1	12942201	12942201	C	A	PRAMEF4	c.349G>T	NM_001009611.4	NP_001009611.2:p.(Val117Phe)	NC_000001.10:g.12942201C>A	(Likely) benign	1 lab	3ddd9304e1
16:88804732 PIEZO1 C>T	16	88804732	88804732	C	T	PIEZO1	c.751G>A	NM_001142864.4	NP_001136336.2:p.(Ala251Thr)	NC_000016.9:g.88804732C>T	(Likely) benign	1 lab	3ddd99570b
4:126238089 FAT4 C>A	4	126238089	126238089	C	A	FAT4	c.523C>A	NM_001291303.1	NP_001278232.1:p.(Arg175Ser)	NC_000004.11:g.126238089C>A	VUS	1 lab	3dde09dbf8
4:183267886 TENM3 C>T	4	183267886	183267886	C	T	TENM3	c.315C>T	NM_001080477.3	NP_001073946.1:p.(Leu105=)	NC_000004.11:g.183267886C>T	(Likely) benign	1 lab	3dde180ce7
2:179664351 TTN C>T	2	179664351	179664351	C	T	TTN	c.777G>A	NM_001267550.1	NP_001254479.1:p.(Pro259=)	NC_000002.11:g.179664351C>T	(Likely) benign	1 lab	3ddfa69881
17:72341023 KIF19 A>G	17	72341023	72341023	A	G	KIF19	c.706A>G	NM_153209.4	NP_694941.2:p.(Asn236Asp)	NC_000017.10:g.72341023A>G	(Likely) benign	1 lab	3de083ac00
16:88891257 GALNS C>A	16	88891257	88891257	C	A	GALNS	c.1160G>T	NM_000512.4	NP_000503.1:p.(Gly387Val)	NC_000016.9:g.88891257C>A	VUS	1 lab	3de1c7900e
3:142272757 ATR T>C	3	142272757	142272757	T	C	ATR	c.2442A>G	NM_001184.3	NP_001175.2:p.(Glu814=)	NC_000003.11:g.142272757T>C	(Likely) benign	1 lab	3de1efd013
X:9905194 SHROOM2 A>G	X	9905194	9905194	A	G	SHROOM2	c.3608A>G	NM_001649.3	NP_001640.1:p.(Asn1203Ser)	NC_000023.10:g.9905194A>G	VUS	1 lab	3de25269f7
4:47625586 CORIN A>AC	4	47625586	47625590	A	AC	CORIN	c.2540+1dup	NM_006587.3	NP_006578.2:p.?	NC_000004.11:g.47625590dup	VUS	1 lab	3de321537e
19:36213292 KMT2B C>A	19	36213292	36213292	C	A	KMT2B	c.2489C>A	NM_014727.2	NP_055542.1:p.(Ala830Asp)	NC_000019.9:g.36213292C>A	(Likely) benign	1 lab	3de4461ef9
12:6575406 VAMP1 C>T	12	6575406	6575406	C	T	VAMP1	c.114G>A	NM_199245.2	NP_954740.1:p.(Gln38=)	NC_000012.11:g.6575406C>T	(Likely) benign	1 lab	3de4fc2ffc
9:35657748 RMRP A>G	9	35657748	35657748	A	G	RMRP	n.268T>C	NR_003051.3		NC_000009.11:g.35657748A>G	VUS	1 lab	3de59e1c45
17:1634143 WDR81 C>T	17	1634143	1634143	C	T	WDR81	c.3870C>T	NM_001163809.1	NP_001157281.1:p.(Ile1290=)	NC_000017.10:g.1634143C>T	(Likely) benign	1 lab	3de612461a
6:65301528 EYS A>T	6	65301528	65301528	A	T	EYS	c.4232T>A	NM_001292009.1	NP_001278938.1:p.(Phe1411Tyr)	NC_000006.11:g.65301528A>T	(Likely) benign	1 lab	3de736b1b5
5:149769571 TCOF1 G>A	5	149769571	149769571	G	A	TCOF1	c.3168G>A	NM_001135243.1	NP_001128715.1:p.(Glu1056=)	NC_000005.9:g.149769571G>A	(Likely) benign	1 lab	3de7a1f641
X:153594724 FLNA T>G	X	153594724	153594724	T	G	FLNA	c.1180A>C	NM_001110556.2	NP_001104026.1:p.(Ser394Arg)	NC_000023.10:g.153594724T>G	VUS	1 lab	3de85c3088
14:91763799 CCDC88C G>A	14	91763799	91763799	G	A	CCDC88C	c.3816C>T	NM_001080414.3	NP_001073883.2:p.(Tyr1272=)	NC_000014.8:g.91763799G>A	(Likely) benign	1 lab	3de8e6b28a
X:77130981 MAGT1 G>A	X	77130981	77130981	G	A	MAGT1	c.312C>T	NM_032121.5	NP_115497.4:p.(Tyr104=)	NC_000023.10:g.77130981G>A	(Likely) benign	1 lab	3de9769209
14:24550471 NRL CG>C	14	24550471	24550473	CG	C	NRL	c.687del	NM_001354768.3	NP_001341697.1:p.(Asp231ThrfsTer87)	NC_000014.8:g.24550473del	(Likely) pathogenic	1 lab	3de9798dfb
14:105415346 AHNAK2 T>A	14	105415346	105415346	T	A	AHNAK2	c.6442A>T	NM_138420.3	NP_612429.2:p.(Thr2148Ser)	NC_000014.8:g.105415346T>A	(Likely) benign	1 lab	3dea052163
19:49102604 SULT2B1 TCCAGCC>T	19	49102604	49102624	TCCAGCC	T	SULT2B1	c.1009_1014del	NM_004605.2	NP_004596.2:p.(Ser337_Pro338del)	NC_000019.9:g.49102619_49102624del	VUS	1 lab	ec5cf3c021
1:215972310 USH2A A>G	1	215972310	215972310	A	G	USH2A	c.9897T>C	NM_206933.2	NP_996816.2:p.(Ile3299=)	NC_000001.10:g.215972310A>G	(Likely) benign	1 lab	3deb4063b7
X:85213942 CHM T>G	X	85213942	85213942	T	G	CHM	c.743A>C	NM_000390.2	NP_000381.1:p.(Lys248Thr)	NC_000023.10:g.85213942T>G	VUS	1 lab	3dee3774cd
9:135977123 RALGDS G>A	9	135977123	135977123	G	A	RALGDS	c.2238C>T	NM_006266.4	NP_006257.1:p.(Ser746=)	NC_000009.11:g.135977123G>A	(Likely) benign	1 lab	3def4a5037
2:241661900 KIF1A G>A	2	241661900	241661900	G	A	KIF1A	c.4638C>T	NM_001244008.1	NP_001230937.1:p.(Asn1546=)	NC_000002.11:g.241661900G>A	(Likely) benign	1 lab	3df09fe045
3:4718326 ITPR1 C>T	3	4718326	4718326	C	T	ITPR1	c.2763C>T	NM_001168272.1	NP_001161744.1:p.(Gly921=)	NC_000003.11:g.4718326C>T	VUS	1 lab	3df1118ea0
16:23400248 COG7 T>C	16	23400248	23400248	T	C	COG7	c.2306A>G	NM_153603.3	NP_705831.1:p.(Asn769Ser)	NC_000016.9:g.23400248T>C	VUS	1 lab	3df4f26775
X:52677364 SSX7 T>G	X	52677364	52677364	T	G	SSX7	c.413A>C	NM_173358.2	NP_775494.1:p.(His138Pro)	NC_000023.10:g.52677364T>G	(Likely) benign	1 lab	3df5e97149
11:118372545 KMT2A C>A	11	118372545	118372545	C	A	KMT2A	c.6478C>A	NM_001197104.1	NP_001184033.1:p.(Pro2160Thr)	NC_000011.9:g.118372545C>A	VUS	1 lab	3df7d1b9d7
20:17950986 MGME1 GA>G	20	17950986	17950988	GA	G	MGME1	c.486del	NM_052865.4	NP_443097.1:p.(Asp163MetfsTer31)	NC_000020.10:g.17950988del	VUS	1 lab	3df822a4ac
14:68193828 RDH12 C>T	14	68193828	68193828	C	T	RDH12	c.579C>T	NM_152443.2	NP_689656.2:p.(Arg193=)	NC_000014.8:g.68193828C>T	(Likely) benign	1 lab	3dfa69cde4
8:145737936 RECQL4 G>A	8	145737936	145737936	G	A	RECQL4	c.2894C>T	NM_004260.3	NP_004251.3:p.(Pro965Leu)	NC_000008.10:g.145737936G>A	VUS	1 lab	3dfbe2b76d
5:79732722 ZFYVE16 A>G	5	79732722	79732722	A	G	ZFYVE16	c.218A>G	NM_001105251.3	NP_001098721.1:p.(Tyr73Cys)	NC_000005.9:g.79732722A>G	(Likely) benign	1 lab	3dfbf6f7cd
17:17699943 RAI1 C>G	17	17699943	17699943	C	G	RAI1	c.3681C>G	NM_030665.3	NP_109590.3:p.(Ala1227=)	NC_000017.10:g.17699943C>G	(Likely) benign	1 lab	3dfc6d7fd0
4:62849324 ADGRL3 A>T	4	62849324	62849324	A	T	ADGRL3	c.3236+3A>T	NM_001322402.1	NP_001309331.1:p.?	NC_000004.11:g.62849324A>T	VUS	1 lab	3dfd484ca7
16:30732222 SRCAP C>T	16	30732222	30732222	C	T	SRCAP	c.3176C>T	NM_006662.3	NP_006653.2:p.(Pro1059Leu)	NC_000016.9:g.30732222C>T	(Likely) benign	1 lab	ec62146e3b
14:51707023 TMX1 G>C	14	51707023	51707023	G	C	TMX1	c.13G>C	NM_030755.5	NP_110382.3:p.(Gly5Arg)	NC_000014.8:g.51707023G>C	(Likely) benign	1 lab	3e027d33c8
14:51227074 NIN G>A	14	51227074	51227074	G	A	NIN	c.1900C>T	NM_020921.3	NP_065972.3:p.(Arg634Cys)	NC_000014.8:g.51227074G>A	(Likely) benign	1 lab	3e031c80d1
15:56735955 MISSING C>T	15	56735955	56735955	C	T	MISSING				NC_000015.9:g.56735955C>T	(Likely) benign	1 lab	3e0340f8d9
1:236176833 NID1 T>C	1	236176833	236176833	T	C	NID1	c.2282A>G	NM_002508.2	NP_002499.2:p.(Tyr761Cys)	NC_000001.10:g.236176833T>C	VUS	1 lab	3e0375ae7c
3:10384655 ATP2B2 G>T	3	10384655	10384655	G	T	ATP2B2	c.2569-6C>A	NM_001330611.2	NP_001317540.1:p.?	NC_000003.11:g.10384655G>T	VUS	1 lab	3e03e37370
2:217279875 SMARCAL1 G>T	2	217279875	217279875	G	T	SMARCAL1	c.448G>T	NM_014140.3	NP_054859.2:p.(Ala150Ser)	NC_000002.11:g.217279875G>T	(Likely) benign	1 lab	3e075e4e75
9:71840264 TJP2 AC>A	9	71840264	71840267	AC	A	TJP2	c.1000del	NM_004817.4	NP_004808.2:p.(Arg334GlufsTer16)	NC_000009.11:g.71840267del	(Likely) pathogenic	1 lab	3e0833e2b0
16:14026042 ERCC4 G>A	16	14026042	14026042	G	A	ERCC4	c.1002G>A	NM_005236.2	NP_005227.1:p.(Ser334=)	NC_000016.9:g.14026042G>A	(Likely) benign	1 lab	3e08c3ffa7
16:31476297 ARMC5 C>T	16	31476297	31476297	C	T	ARMC5	c.1953C>T	NM_024742.2	NP_079018.1:p.(Pro651=)	NC_000016.9:g.31476297C>T	(Likely) benign	1 lab	3e09076ceb
X:131540301 MBNL3 G>A	X	131540301	131540301	G	A	MBNL3	c.9C>T	NM_001170704.1	NP_001164175.1:p.(Ala3=)	NC_000023.10:g.131540301G>A	(Likely) benign	1 lab	3e0b0b3ec4
2:179463408 TTN T>C	2	179463408	179463408	T	C	TTN	c.56963-27A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179463408T>C	(Likely) benign	1 lab	3e0bbe8964
10:79741296 POLR3A C>T	10	79741296	79741296	C	T	POLR3A	c.3781G>A	NM_007055.3	NP_008986.2:p.(Glu1261Lys)	NC_000010.10:g.79741296C>T	VUS	1 lab	3e1090c056
2:166198955 SCN2A GTCAGT>G	2	166198955	166198962	GTCAGT	G	SCN2A	c.2541_2545del	NM_001040142.2	NP_001035232.1:p.(Val848ProfsTer23)	NC_000002.11:g.166198958_166198962del	(Likely) pathogenic	1 lab	3e1173a946
3:38603987 SCN5A G>A	3	38603987	38603987	G	A	SCN5A	c.3882C>T	NM_001099404.1	NP_001092874.1:p.(Ala1294=)	NC_000003.11:g.38603987G>A	(Likely) benign	1 lab	3e13c499a8
3:45801393 SLC6A20 T>C	3	45801393	45801393	T	C	SLC6A20	c.1585A>G	NM_020208.3	NP_064593.1:p.(Ile529Val)	NC_000003.11:g.45801393T>C	(Likely) benign	1 lab	3e13ecae7b
1:197055985 ASPM T>C	1	197055985	197055985	T	C	ASPM	c.10279A>G	NM_018136.4	NP_060606.3:p.(Ile3427Val)	NC_000001.10:g.197055985T>C	VUS	1 lab	3e14e4598d
6:152730302 SYNE1 G>A	6	152730302	152730302	G	A	SYNE1	c.6441C>T	NM_182961.3	NP_892006.3:p.(Ser2147=)	NC_000006.11:g.152730302G>A	(Likely) benign	1 lab	3e157a2141
X:54586980 GNL3L C>T	X	54586980	54586980	C	T	GNL3L	c.1694C>T	NM_001184819.2	NP_001171748.1:p.(Ser565Phe)	NC_000023.10:g.54586980C>T	VUS	1 lab	3e16eb845b
X:153175639 ARHGAP4 G>A	X	153175639	153175639	G	A	ARHGAP4	c.2262C>T	NM_001164741.1	NP_001158213.1:p.(Ser754=)	NC_000023.10:g.153175639G>A	(Likely) benign	1 lab	3e177f6538
16:2135265 TSC2 A>C	16	2135265	2135265	A	C	TSC2	c.4604A>C	NM_000548.3	NP_000539.2:p.(Asp1535Ala)	NC_000016.9:g.2135265A>C	(Likely) pathogenic	1 lab	3e1838c552
16:85695114 GSE1 T>TGCCCGG	16	85695114	85695130	T	TGCCCGG	GSE1	c.2014_2019dup	NM_014615.4	NP_055430.1:p.(Gly672_Pro673dup)	NC_000016.9:g.85695125_85695130dup	(Likely) benign	1 lab	3e18af80bb
19:17954248 JAK3 G>A	19	17954248	17954248	G	A	JAK3	c.361C>T	NM_000215.3	NP_000206.2:p.(Arg121Cys)	NC_000019.9:g.17954248G>A	VUS	1 lab	3e194028f7
2:55254611 RTN4 G>A	2	55254611	55254611	G	A	RTN4	c.624C>T	NM_020532.4	NP_065393.1:p.(Asp208=)	NC_000002.11:g.55254611G>A	(Likely) benign	1 lab	3e1a64fe82
10:94366135 KIF11 AAAC>A	10	94366135	94366139	AAAC	A	KIF11	c.193_195del	NM_004523.4	NP_004514.2:p.(Thr65del)	NC_000010.10:g.94366137_94366139del	VUS	1 lab	3e1eb63255
18:6959459 LAMA1 G>C	18	6959459	6959459	G	C	LAMA1	c.7659C>G	NM_005559.3	NP_005550.2:p.(Asn2553Lys)	NC_000018.9:g.6959459G>C	(Likely) benign	1 lab	3e1f73a592
3:121544903 IQCB1 C>T	3	121544903	121544903	C	T	IQCB1	c.388G>A	NM_001023570.3	NP_001018864.2:p.(Ala130Thr)	NC_000003.11:g.121544903C>T	(Likely) benign	1 lab	3e212d1094
X:77294453 ATP7A C>A	X	77294453	77294453	C	A	ATP7A	c.3631C>A	NM_000052.6	NP_000043.4:p.(Arg1211=)	NC_000023.10:g.77294453C>A	(Likely) pathogenic	1 lab	3e21df43dc
2:179574453 TTN A>G	2	179574453	179574453	A	G	TTN	c.28593T>C	NM_001267550.1	NP_001254479.1:p.(Asn9531=)	NC_000002.11:g.179574453A>G	(Likely) benign	1 lab	3e220c510c
1:237758826 RYR2 T>C	1	237758826	237758826	T	C	RYR2	c.4465T>C	NM_001035.2	NP_001026.2:p.(Cys1489Arg)	NC_000001.10:g.237758826T>C	VUS	1 lab	3e2293990d
17:5461829 NLRP1 C>A	17	5461829	5461829	C	A	NLRP1	c.2187G>T	NM_033004.4	NP_127497.1:p.(Thr729=)	NC_000017.10:g.5461829C>A	(Likely) benign	1 lab	3e22bb9179
2:179474164 TTN C>G	2	179474164	179474164	C	G	TTN	c.51873G>C	NM_001267550.2	NP_001254479.2:p.(Glu17291Asp)	NC_000002.11:g.179474164C>G	VUS	1 lab	ec642dbac0
9:139328542 INPP5E G>A	9	139328542	139328542	G	A	INPP5E	c.981C>T	NM_019892.5	NP_063945.2:p.(Ala327=)	NC_000009.11:g.139328542G>A	(Likely) benign	1 lab	3e264ce2dd
11:6566936 DNHD1 A>C	11	6566936	6566936	A	C	DNHD1	c.4767A>C	NM_144666.2	NP_653267.2:p.(Glu1589Asp)	NC_000011.9:g.6566936A>C	VUS	1 lab	3e2664bda0
17:29661897 NF1 T>C	17	29661897	29661897	T	C	NF1	c.5791T>C	NM_000267.3	NP_000258.1:p.(Trp1931Arg)	NC_000017.10:g.29661897T>C	(Likely) pathogenic	1 lab	3e27394c11
16:88504077 ZNF469 C>T	16	88504077	88504077	C	T	ZNF469				NC_000016.9:g.88504077C>T	VUS	1 lab	3e29dce918
5:156589903 GARIN3 C>G	5	156589903	156589903	C	G	GARIN3	c.1373G>C	NM_130899.3	NP_570969.2:p.(Gly458Ala)	NC_000005.9:g.156589903C>G	(Likely) benign	1 lab	3e2a9f5264
1:40777738 COL9A2 C>A	1	40777738	40777738	C	A	COL9A2	c.410G>T	NM_001852.4	NP_001843.1:p.(Gly137Val)	NC_000001.10:g.40777738C>A	VUS	1 lab	3e2b5588c3
12:133306762 ANKLE2 G>A	12	133306762	133306762	G	A	ANKLE2	c.1986C>T	NM_015114.2	NP_055929.1:p.(Ser662=)	NC_000012.11:g.133306762G>A	(Likely) benign	1 lab	3e2c32e3c1
15:93486206 CHD2 A>T	15	93486206	93486206	A	T	CHD2	c.960A>T	NM_001271.3	NP_001262.3:p.(Thr320=)	NC_000015.9:g.93486206A>T	(Likely) benign	1 lab	3e2c39be43
12:133306559 ANKLE2 G>A	12	133306559	133306559	G	A	ANKLE2	c.2189C>T	NM_015114.2	NP_055929.1:p.(Ser730Leu)	NC_000012.11:g.133306559G>A	VUS	1 lab	3e2e40a887
X:53635850 HUWE1 C>T	X	53635850	53635850	C	T	HUWE1	c.2282G>A	NM_031407.7	NP_113584.3:p.(Arg761His)	NC_000023.10:g.53635850C>T	VUS	1 lab	ec659669ef
17:29652894 NF1 T>G	17	29652894	29652894	T	G	NF1	c.4829T>G	NM_000267.3	NP_000258.1:p.(Leu1610Ter)	NC_000017.10:g.29652894T>G	(Likely) pathogenic	1 lab	3e2fce1f73
8:61764740 CHD7 G>A	8	61764740	61764740	G	A	CHD7				NC_000008.10:g.61764740G>A	VUS	1 lab	3e2ffe0a9f
5:1294052 TERT A>G	5	1294052	1294052	A	G	TERT	c.949T>C	NM_198253.2	NP_937983.2:p.(Trp317Arg)	NC_000005.9:g.1294052A>G	(Likely) benign	1 lab	3e307e31bf
2:1652308 PXDN A>G	2	1652308	1652308	A	G	PXDN	c.3244T>C	NM_012293.2	NP_036425.1:p.(Tyr1082His)	NC_000002.11:g.1652308A>G	VUS	1 lab	3e30cd7036
1:22201474 HSPG2 G>A	1	22201474	22201474	G	A	HSPG2	c.3327C>T	NM_001291860.1	NP_001278789.1:p.(Asp1109=)	NC_000001.10:g.22201474G>A	(Likely) benign	1 lab	3e315bf996
9:84248270 TLE1 G>A	9	84248270	84248270	G	A	TLE1	c.587C>T	NM_005077.5	NP_005068.2:p.(Pro196Leu)	NC_000009.11:g.84248270G>A	VUS	1 lab	3e320f7085
17:29654849 NF1 G>A	17	29654849	29654849	G	A	NF1	c.5538G>A	NM_000267.3	NP_000258.1:p.(Pro1846=)	NC_000017.10:g.29654849G>A	(Likely) benign	1 lab	3e326a7fdd
X:153581377 FLNA C>T	X	153581377	153581377	C	T	FLNA	c.6218G>A	NM_001110556.2	NP_001104026.1:p.(Arg2073His)	NC_000023.10:g.153581377C>T	VUS	1 lab	3e330d33f1
12:31600552 DENND5B T>C	12	31600552	31600552	T	C	DENND5B	c.1781A>G	NM_144973.4	NP_659410.3:p.(Asp594Gly)	NC_000012.11:g.31600552T>C	VUS	1 lab	3e34b51ca1
X:57619140 ZXDB A>C	X	57619140	57619140	A	C	ZXDB	c.659A>C	NM_007157.3	NP_009088.1:p.(His220Pro)	NC_000023.10:g.57619140A>C	(Likely) benign	1 lab	3e3691d84b
16:626237 PIGQ C>G	16	626237	626237	C	G	PIGQ	c.925C>G	NM_004204.3	NP_004195.2:p.(Leu309Val)	NC_000016.9:g.626237C>G	VUS	1 lab	3e37475d8e
14:102481579 DYNC1H1 C>T	14	102481579	102481579	C	T	DYNC1H1	c.7152C>T	NM_001376.4	NP_001367.2:p.(Ser2384=)	NC_000014.8:g.102481579C>T	(Likely) benign	1 lab	3e3846c50d
3:189507620 TP63 C>T	3	189507620	189507620	C	T	TP63	c.31C>T	NM_001114980.2	NP_001108452.1:p.(Gln11Ter)	NC_000003.11:g.189507620C>T	(Likely) pathogenic	1 lab	ec6655daaa
4:126241143 FAT4 C>G	4	126241143	126241143	C	G	FAT4	c.3577C>G	NM_024582.4	NP_078858.4:p.(Gln1193Glu)	NC_000004.11:g.126241143C>G	VUS	1 lab	3e39c4a114
X:70469903 ZMYM3 G>A	X	70469903	70469903	G	A	ZMYM3	c.1224C>T	NM_001171162.1	NP_001164633.1:p.(Arg408=)	NC_000023.10:g.70469903G>A	(Likely) benign	1 lab	3e3a7a6699
X:119389086 ZBTB33 A>G	X	119389086	119389086	A	G	ZBTB33	c.1816A>G	NM_001184742.2	NP_001171671.1:p.(Thr606Ala)	NC_000023.10:g.119389086A>G	(Likely) benign	1 lab	3e3a998e15
X:73749199 SLC16A2 C>A	X	73749199	73749199	C	A	SLC16A2	c.1322C>A	NM_006517.4	NP_006508.2:p.(Pro441Gln)	NC_000023.10:g.73749199C>A	(Likely) pathogenic	1 lab	3e3c6f5b3e
2:15359071 NBAS C>T	2	15359071	15359071	C	T	NBAS	c.6258G>A	NM_015909.3	NP_056993.2:p.(Glu2086=)	NC_000002.11:g.15359071C>T	(Likely) benign	1 lab	3e3df67d67
16:2120560 TSC2 C>A	16	2120560	2120560	C	A	TSC2	c.1820C>A	NM_000548.3	NP_000539.2:p.(Ala607Glu)	NC_000016.9:g.2120560C>A	(Likely) pathogenic	1 lab	3e3f9c2c99
9:139354495 SEC16A G>A	9	139354495	139354495	G	A	SEC16A	c.5072C>T	NM_014866.1	NP_055681.1:p.(Thr1691Met)	NC_000009.11:g.139354495G>A	VUS	1 lab	3e40a402d8
14:31562109 AP4S1 GTAGA>G	14	31562109	31562115	GTAGA	G	AP4S1	c.307-1_309del	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31562112_31562115del	(Likely) pathogenic	1 lab	3e412242cd
13:35730276 NBEA A>T	13	35730276	35730276	A	T	NBEA	c.2584A>T	NM_015678.4	NP_056493.3:p.(Met862Leu)	NC_000013.10:g.35730276A>T	(Likely) benign	1 lab	3e42508828
2:179449692 TTN G>T	2	179449692	179449692	G	T	TTN	c.64676C>A	NM_001267550.1	NP_001254479.1:p.(Ala21559Asp)	NC_000002.11:g.179449692G>T	VUS	1 lab	3e42be06b4
X:149613800 MAMLD1 T>C	X	149613800	149613800	T	C	MAMLD1	c.18T>C	NM_005491.4	NP_005482.2:p.(Ser6=)	NC_000023.10:g.149613800T>C	(Likely) benign	1 lab	3e44182a83
17:78078728 GAA C>T	17	78078728	78078728	C	T	GAA	c.343C>T	NM_000152.3	NP_000143.2:p.(Gln115Ter)	NC_000017.10:g.78078728C>T	(Likely) pathogenic	1 lab	3e442518bd
8:86377518 CA2 A>C	8	86377518	86377518	A	C	CA2	c.52A>C	NM_000067.2	NP_000058.1:p.(Lys18Gln)	NC_000008.10:g.86377518A>C	(Likely) benign	1 lab	3e454eab7f
X:135313072 MAP7D3 T>C	X	135313072	135313072	T	C	MAP7D3	c.1362A>G	NM_001173517.1	NP_001166988.1:p.(Ser454=)	NC_000023.10:g.135313072T>C	(Likely) benign	1 lab	3e45b493df
19:58773426 ZNF544 C>T	19	58773426	58773426	C	T	ZNF544	c.1454C>T	NM_001320769.1	NP_001307698.1:p.(Thr485Met)	NC_000019.9:g.58773426C>T	VUS	1 lab	3e46d66cf5
2:112779010 MERTK A>T	2	112779010	112779010	A	T	MERTK	c.2201A>T	NM_006343.2	NP_006334.2:p.(Asp734Val)	NC_000002.11:g.112779010A>T	VUS	1 lab	3e499542ae
22:50879364 PPP6R2 G>A	22	50879364	50879364	G	A	PPP6R2	c.2488G>A	NM_001242898.2	NP_001229827.1:p.(Ala830Thr)	NC_000022.10:g.50879364G>A	(Likely) benign	1 lab	3e4b0189be
X:3530270 PRKX T>C	X	3530270	3530270	T	C	PRKX	c.1048A>G	NM_005044.4	NP_005035.1:p.(Lys350Glu)	NC_000023.10:g.3530270T>C	(Likely) benign	1 lab	3e4b7dd3a4
1:17354334 SDHB G>C	1	17354334	17354334	G	C	SDHB	c.450C>G	NM_003000.3	NP_002991.2:p.(Tyr150Ter)	NC_000001.10:g.17354334G>C	(Likely) pathogenic	1 lab	ec67994a77
18:56149099 ALPK2 T>C	18	56149099	56149099	T	C	ALPK2	c.6469A>G	NM_052947.4	NP_443179.3:p.(Ile2157Val)	NC_000018.9:g.56149099T>C	(Likely) benign	1 lab	3e4bfd3d7e
1:103354271 COL11A1 G>A	1	103354271	103354271	G	A	COL11A1	c.4590+8C>T	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103354271G>A	(Likely) benign	1 lab	3e4d98597d
11:103093759 DYNC2H1 T>C	11	103093759	103093759	T	C	DYNC2H1	c.9297T>C	NM_001080463.1	NP_001073932.1:p.(Tyr3099=)	NC_000011.9:g.103093759T>C	(Likely) benign	1 lab	3e4ee9c0d7
2:178416760 IFT70B G>A	2	178416760	178416760	G	A	IFT70B	c.732C>T	NM_152517.2	NP_689730.2:p.(Val244=)	NC_000002.11:g.178416760G>A	(Likely) benign	1 lab	3e50af041e
10:67829105 CTNNA3 T>C	10	67829105	67829105	T	C	CTNNA3	c.2120A>G	NM_013266.3	NP_037398.2:p.(Asn707Ser)	NC_000010.10:g.67829105T>C	(Likely) benign	1 lab	3e52df1fdc
21:34004111 SYNJ1 C>T	21	34004111	34004111	C	T	SYNJ1	c.4033G>A	NM_003895.3	NP_003886.3:p.(Val1345Ile)	NC_000021.8:g.34004111C>T	(Likely) benign	1 lab	3e56c67827
X:153591120 FLNA C>T	X	153591120	153591120	C	T	FLNA	c.2313G>A	NM_001110556.2	NP_001104026.1:p.(Lys771=)	NC_000023.10:g.153591120C>T	(Likely) benign	1 lab	3e586b79ba
4:68935687 TMPRSS11F G>A	4	68935687	68935687	G	A	TMPRSS11F	c.553C>T	NM_207407.2	NP_997290.2:p.(Arg185Cys)	NC_000004.11:g.68935687G>A	VUS	1 lab	3e5a1f0111
17:36485936 GPR179 GCCCT>G	17	36485936	36485943	GCCCT	G	GPR179	c.3512_3515del	NM_001004334.4	NP_001004334.3:p.(Glu1171AlafsTer12)	NC_000017.10:g.36485940_36485943del	VUS	1 lab	3e5ceee4d4
9:2718945 KCNV2 C>T	9	2718945	2718945	C	T	KCNV2	c.1206C>T	NM_133497.3	NP_598004.1:p.(Phe402=)	NC_000009.11:g.2718945C>T	(Likely) benign	1 lab	3e5eef231c
5:89949053 ADGRV1 T>C	5	89949053	89949053	T	C	ADGRV1	c.3662T>C	NM_032119.4	NP_115495.3:p.(Leu1221Pro)	NC_000005.9:g.89949053T>C	VUS	1 lab	3e60a1afcd
6:170151766 ERMARD C>T	6	170151766	170151766	C	T	ERMARD	c.6+7C>T	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170151766C>T	(Likely) benign	1 lab	3e60a4002f
7:88962774 ZNF804B T>C	7	88962774	88962774	T	C	ZNF804B	c.478T>C	NM_181646.4	NP_857597.1:p.(Ser160Pro)	NC_000007.13:g.88962774T>C	VUS	1 lab	3e60d1b0e0
X:32305796 DMD T>C	X	32305796	32305796	T	C	DMD	c.5771A>G	NM_004010.3	NP_004001.1:p.(Gln1924Arg)	NC_000023.10:g.32305796T>C	(Likely) benign	1 lab	3e646f35d0
9:133963207 LAMC3 A>G	9	133963207	133963207	A	G	LAMC3	c.4477+3A>G	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133963207A>G	VUS	1 lab	3e64fad8cc
3:180334719 CCDC39 C>T	3	180334719	180334719	C	T	CCDC39	c.2301G>A	NM_181426.2	NP_852091.1:p.(Leu767=)	NC_000003.11:g.180334719C>T	(Likely) benign	1 lab	3e655e9773
X:47775395 ZNF81 C>A	X	47775395	47775395	C	A	ZNF81	c.1350C>A	NM_007137.3	NP_009068.2:p.(Ala450=)	NC_000023.10:g.47775395C>A	(Likely) benign	1 lab	3e67729dd0
7:42007440 GLI3 C>T	7	42007440	42007440	C	T	GLI3	c.2185G>A	NM_000168.5	NP_000159.3:p.(Glu729Lys)	NC_000007.13:g.42007440C>T	VUS	1 lab	3e67fe2d2b
9:135786871 TSC1 GGGGAACTCAGAGT>AACTGC	9	135786871	135786884	GGGGAACTCAGAGT	AACTGC	TSC1	c.985_998delinsGCAGTT	NM_000368.4	NP_000359.1:p.(Thr329AlafsTer9)	NC_000009.11:g.135786871_135786884delinsAACTGC	(Likely) pathogenic	1 lab	3e69715481
X:107084434 MID2 G>T	X	107084434	107084434	G	T	MID2	c.539G>T	NM_012216.3	NP_036348.2:p.(Arg180Leu)	NC_000023.10:g.107084434G>T	VUS	1 lab	3e6a953cf6
16:3580593 CLUAP1 C>T	16	3580593	3580593	C	T	CLUAP1	c.954C>T	NM_001330454.1	NP_001317383.1:p.(Ile318=)	NC_000016.9:g.3580593C>T	(Likely) benign	1 lab	3e6c3e5b1b
1:244541901 SPMIP3 C>T	1	244541901	244541901	C	T	SPMIP3	c.285C>T	NM_001012970.2	NP_001012988.1:p.(Thr95=)	NC_000001.10:g.244541901C>T	(Likely) benign	1 lab	3e6d9274a8
10:27820547 RAB18 AAGC>A	10	27820547	27820551	AAGC	A	RAB18	c.187-887_187-885del	NM_021252.5	NP_067075.1:p.?	NC_000010.10:g.27820549_27820551del	VUS	1 lab	3e706799d1
5:149514403 PDGFRB C>T	5	149514403	149514403	C	T	PDGFRB	c.541G>A	NM_002609.3	NP_002600.1:p.(Gly181Ser)	NC_000005.9:g.149514403C>T	VUS	1 lab	3e889f58a0
1:234744485 IRF2BP2 ACGCTGCTCGTGCTCCACGGCAG>A	1	234744485	234744516	ACGCTGCTCGTGCTCCACGGCAG	A	IRF2BP2	c.734_755del	NM_182972.3	NP_892017.2:p.(Ala245ValfsTer31)	NC_000001.10:g.234744495_234744516del	VUS	1 lab	3e70c87af6
14:102843231 TECPR2 A>G	14	102843231	102843231	A	G	TECPR2	c.173A>G	NM_014844.4	NP_055659.2:p.(Tyr58Cys)	NC_000014.8:g.102843231A>G	VUS	1 lab	3e734fc73e
X:39930238 BCOR C>T	X	39930238	39930238	C	T	BCOR	c.3226G>A	NM_001123385.1	NP_001116857.1:p.(Glu1076Lys)	NC_000023.10:g.39930238C>T	(Likely) benign	1 lab	3e739fd68f
14:91766410 CCDC88C C>T	14	91766410	91766410	C	T	CCDC88C	c.3640G>A	NM_001080414.3	NP_001073883.2:p.(Gly1214Ser)	NC_000014.8:g.91766410C>T	(Likely) benign	1 lab	3e74cd1898
1:27875626 AHDC1 C>T	1	27875626	27875626	C	T	AHDC1	c.3001G>A	NM_001029882.3	NP_001025053.1:p.(Ala1001Thr)	NC_000001.10:g.27875626C>T	VUS	1 lab	3e74cf177b
1:21040021 KIF17 G>A	1	21040021	21040021	G	A	KIF17	c.106C>T	NM_001287212.1	NP_001274141.1:p.(Arg36Trp)	NC_000001.10:g.21040021G>A	VUS	1 lab	3e74f237a7
2:73676175 ALMS1 T>C	2	73676175	73676175	T	C	ALMS1	c.2524T>C	NM_015120.4	NP_055935.4:p.(Ser842Pro)	NC_000002.11:g.73676175T>C	VUS	1 lab	3e750a7301
19:42489154 ATP1A3 G>A	19	42489154	42489154	G	A	ATP1A3	c.948C>T	NM_001256214.1	NP_001243143.1:p.(Leu316=)	NC_000019.9:g.42489154G>A	(Likely) benign	1 lab	3e755b8d68
13:103704987 SLC10A2 C>T	13	103704987	103704987	C	T	SLC10A2	c.568G>A	NM_000452.2	NP_000443.1:p.(Ala190Thr)	NC_000013.10:g.103704987C>T	VUS	1 lab	3e757a5dc4
19:46283258 DMPK C>A	19	46283258	46283258	C	A	DMPK	c.60G>T	NM_001081563.2	NP_001075032.1:p.(Trp20Cys)	NC_000019.9:g.46283258C>A	(Likely) benign	1 lab	3e76eef14c
15:40947173 KNL1 A>G	15	40947173	40947173	A	G	KNL1	c.6560A>G	NM_170589.4	NP_733468.3:p.(Asp2187Gly)	NC_000015.9:g.40947173A>G	(Likely) benign	1 lab	3e7716668f
11:17121433 PIK3C2A G>A	11	17121433	17121433	G	A	PIK3C2A	c.4092C>T	NM_001321378.1	NP_001308307.1:p.(Asp1364=)	NC_000011.9:g.17121433G>A	(Likely) benign	1 lab	3e779f5d77
2:189861900 COL3A1 G>C	2	189861900	189861900	G	C	COL3A1	c.1771G>C	NM_000090.3	NP_000081.1:p.(Gly591Arg)	NC_000002.11:g.189861900G>C	(Likely) pathogenic	1 lab	3e7d93ec91
11:44289183 ALX4 C>T	11	44289183	44289183	C	T	ALX4	c.778-11G>A	NM_021926.4	NP_068745.2:p.?	NC_000011.9:g.44289183C>T	(Likely) benign	1 lab	3e7de731ac
9:131107569 SLC27A4 T>C	9	131107569	131107569	T	C	SLC27A4	c.297T>C	NM_005094.3	NP_005085.2:p.(Asp99=)	NC_000009.11:g.131107569T>C	(Likely) benign	1 lab	3e7e0c3038
X:103499209 ESX1 C>A	X	103499209	103499209	C	A	ESX1	c.132G>T	NM_153448.3	NP_703149.1:p.(Glu44Asp)	NC_000023.10:g.103499209C>A	(Likely) benign	1 lab	3e7e52c404
9:117240985 WHRN C>T	9	117240985	117240985	C	T	WHRN	c.685G>A	NM_015404.3	NP_056219.3:p.(Val229Ile)	NC_000009.11:g.117240985C>T	(Likely) benign	1 lab	3e80629ce1
X:140994851 MAGEC1 AG>A	X	140994851	140994856	AG	A	MAGEC1	c.1666del	NM_005462.5	NP_005453.2:p.(Glu556ArgfsTer74)	NC_000023.10:g.140994856del	VUS	1 lab	3e80728e14
10:86004880 RGR G>A	10	86004880	86004880	G	A	RGR	c.34G>A	NM_002921.3	NP_002912.2:p.(Gly12Arg)	NC_000010.10:g.86004880G>A	VUS	1 lab	3e80938443
18:42532542 SETBP1 T>C	18	42532542	42532542	T	C	SETBP1	c.3237T>C	NM_015559.3	NP_056374.2:p.(Leu1079=)	NC_000018.9:g.42532542T>C	(Likely) benign	1 lab	3e81f587d8
22:46125333 ATXN10 A>C	22	46125333	46125333	A	C	ATXN10	c.757A>C	NM_013236.3	NP_037368.1:p.(Lys253Gln)	NC_000022.10:g.46125333A>C	(Likely) benign	1 lab	3e824e799e
X:117764394 DOCK11 A>G	X	117764394	117764394	A	G	DOCK11	c.3827A>G	NM_144658.3	NP_653259.3:p.(Gln1276Arg)	NC_000023.10:g.117764394A>G	VUS	1 lab	3e87c63a30
9:101536240 ANKS6 G>A	9	101536240	101536240	G	A	ANKS6	c.1740C>T	NM_173551.4	NP_775822.3:p.(Asn580=)	NC_000009.11:g.101536240G>A	(Likely) benign	1 lab	3e87e9754d
15:86790909 AGBL1 C>T	15	86790909	86790909	C	T	AGBL1	c.534C>T	NM_152336.3	NP_689549.3:p.(Asn178=)	NC_000015.9:g.86790909C>T	(Likely) benign	1 lab	3e89fcd5c3
1:245165529 DRC8 C>T	1	245165529	245165529	C	T	DRC8	c.50C>T	NM_001290327.1	NP_001277256.1:p.(Thr17Ile)	NC_000001.10:g.245165529C>T	(Likely) benign	1 lab	3e8acfa7d2
16:2157964 PKD1 G>A	16	2157964	2157964	G	A	PKD1	c.6985C>T	NM_001009944.2	NP_001009944.2:p.(Arg2329Trp)	NC_000016.9:g.2157964G>A	VUS	1 lab	3e8e1f13f5
6:73100322 RIMS1 A>C	6	73100322	73100322	A	C	RIMS1	c.4389A>C	NM_014989.5	NP_055804.2:p.(Lys1463Asn)	NC_000006.11:g.73100322A>C	(Likely) benign	1 lab	3e8fc331b9
X:104464889 TEX13A C>T	X	104464889	104464889	C	T	TEX13A	c.193G>A	NM_031274.4	NP_112564.1:p.(Glu65Lys)	NC_000023.10:g.104464889C>T	VUS	1 lab	3e9032d81f
4:156835472 TDO2 A>C	4	156835472	156835472	A	C	TDO2	c.727-3A>C	NM_005651.4	NP_005642.1:p.?	NC_000004.11:g.156835472A>C	(Likely) benign	1 lab	3e92b29dd6
12:2797722 CACNA1C C>T	12	2797722	2797722	C	T	CACNA1C	c.6143C>T	NM_199460.4	NP_955630.3:p.(Pro2048Leu)	NC_000012.11:g.2797722C>T	VUS	1 lab	38c6b10959
4:89053780 ABCG2 T>C	4	89053780	89053780	T	C	ABCG2	c.211A>G	NM_001348985.1	NP_001335914.1:p.(Met71Val)	NC_000004.11:g.89053780T>C	(Likely) benign	1 lab	3e948a1802
11:111746226 FDXACB1 T>C	11	111746226	111746226	T	C	FDXACB1	c.1295A>G	NM_138378.2	NP_612387.1:p.(Lys432Arg)	NC_000011.9:g.111746226T>C	(Likely) benign	1 lab	3e95e5947c
4:114278326 ANK2 C>T	4	114278326	114278326	C	T	ANK2	c.8552C>T	NM_001148.4	NP_001139.3:p.(Pro2851Leu)	NC_000004.11:g.114278326C>T	VUS	1 lab	3e9733bea5
1:156873738 PEAR1 C>T	1	156873738	156873738	C	T	PEAR1	c.20C>T	NM_001080471.1	NP_001073940.1:p.(Pro7Leu)	NC_000001.10:g.156873738C>T	(Likely) benign	1 lab	3e97b9e0b9
10:115804202 ADRB1 A>C	10	115804202	115804202	A	C	ADRB1	c.311A>C	NM_000684.2	NP_000675.1:p.(Asp104Ala)	NC_000010.10:g.115804202A>C	VUS	1 lab	3e98f551fb
22:38519120 PLA2G6 C>T	22	38519120	38519120	C	T	PLA2G6	c.1039G>A	NM_001349867.1	NP_001336796.1:p.(Ala347Thr)	NC_000022.10:g.38519120C>T	VUS	1 lab	3e995cc0b4
5:89981612 ADGRV1 G>A	5	89981612	89981612	G	A	ADGRV1	c.6290G>A	NM_032119.4	NP_115495.3:p.(Arg2097His)	NC_000005.9:g.89981612G>A	VUS	1 lab	3e9b019b79
12:64173727 RXYLT1 G>T	12	64173727	64173727	G	T	RXYLT1	c.-14G>T	NM_014254.2	NP_055069.1:p.?	NC_000012.11:g.64173727G>T	VUS	1 lab	59c21e0fa0
13:39454458 FREM2 A>G	13	39454458	39454458	A	G	FREM2	c.9044A>G	NM_207361.5	NP_997244.4:p.(Tyr3015Cys)	NC_000013.10:g.39454458A>G	VUS	1 lab	3e9dcbbab9
X:53611258 HUWE1 G>A	X	53611258	53611258	G	A	HUWE1	c.5049C>T	NM_031407.6	NP_113584.3:p.(Leu1683=)	NC_000023.10:g.53611258G>A	(Likely) benign	1 lab	3e9e71940a
8:110425735 PKHD1L1 C>A	8	110425735	110425735	C	A	PKHD1L1	c.2321C>A	NM_177531.6	NP_803875.2:p.(Thr774Asn)	NC_000008.10:g.110425735C>A	(Likely) benign	1 lab	3e9f3106bc
1:247695273 OR2C3 C>T	1	247695273	247695273	C	T	OR2C3	c.541G>A	NM_198074.4	NP_932340.3:p.(Glu181Lys)	NC_000001.10:g.247695273C>T	VUS	1 lab	3ea029180b
19:45923632 ERCC1 G>A	19	45923632	45923632	G	A	ERCC1	c.375C>T	NM_001983.3	NP_001974.1:p.(Asp125=)	NC_000019.9:g.45923632G>A	VUS	1 lab	3ea19ddef2
3:49734860 RNF123 G>C	3	49734860	49734860	G	C	RNF123	c.312G>C	NM_022064.4	NP_071347.2:p.(Gly104=)	NC_000003.11:g.49734860G>C	(Likely) benign	1 lab	3ea19f2a3c
17:29563023 NF1 G>T	17	29563023	29563023	G	T	NF1	c.3958G>T	NM_000267.3	NP_000258.1:p.(Glu1320Ter)	NC_000017.10:g.29563023G>T	(Likely) pathogenic	1 lab	3ea462b49f
17:29670024 NF1 TA>T	17	29670024	29670025	TA	T	NF1	c.7063-2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29670025del	(Likely) pathogenic	1 lab	3ea495586e
14:64634296 SYNE2 C>T	14	64634296	64634296	C	T	SYNE2	c.16844C>T	NM_182914.2	NP_878918.2:p.(Ala5615Val)	NC_000014.8:g.64634296C>T	(Likely) benign	1 lab	3ea542aca7
12:58158936 CYP27B1 G>A	12	58158936	58158936	G	A	CYP27B1	c.648C>T	NM_000785.3	NP_000776.1:p.(Pro216=)	NC_000012.11:g.58158936G>A	VUS	1 lab	3ea96a5bdf
15:23892431 MAGEL2 G>A	15	23892431	23892431	G	A	MAGEL2	c.459C>T	NM_019066.4	NP_061939.3:p.(Pro153=)	NC_000015.9:g.23892431G>A	(Likely) benign	1 lab	3eaa433302
10:55569013 PCDH15 C>T	10	55569013	55569013	C	T	PCDH15	c.4812G>A	NM_001142769.2	NP_001136241.1:p.(Glu1604=)	NC_000010.10:g.55569013C>T	(Likely) benign	1 lab	3eaa5a5011
14:64591797 SYNE2 G>A	14	64591797	64591797	G	A	SYNE2	c.13423G>A	NM_182914.2	NP_878918.2:p.(Val4475Ile)	NC_000014.8:g.64591797G>A	(Likely) benign	1 lab	3eaa8df729
19:36595475 WDR62 G>A	19	36595475	36595475	G	A	WDR62	c.4209G>A	NM_001083961.1	NP_001077430.1:p.(Pro1403=)	NC_000019.9:g.36595475G>A	(Likely) benign	1 lab	3eaa903d6c
6:10784717 MAK C>T	6	10784717	10784717	C	T	MAK	c.1405G>A	NM_001242957.2	NP_001229886.1:p.(Glu469Lys)	NC_000006.11:g.10784717C>T	(Likely) benign	1 lab	3eaa9bfe13
5:74706909 CERT1 CTTCTT>C	5	74706909	74706919	CTTCTT	C	CERT1	c.852_856del	NM_001379029.1	NP_001365958.1:p.(Arg285AsnfsTer6)	NC_000005.9:g.74706915_74706919del	VUS	1 lab	3eaafdd513
19:3978105 EEF2 G>T	19	3978105	3978105	G	T	EEF2	c.1779C>A	NM_001961.3	NP_001952.1:p.(Ser593=)	NC_000019.9:g.3978105G>T	(Likely) benign	1 lab	3eac3e4c31
6:138198373 TNFAIP3 T>G	6	138198373	138198373	T	G	TNFAIP3	c.966T>G	NM_001270507.1	NP_001257436.1:p.(Thr322=)	NC_000006.11:g.138198373T>G	(Likely) benign	1 lab	3eaefe888e
15:22960838 CYFIP1 C>T	15	22960838	22960838	C	T	CYFIP1	c.351C>T	NM_001324122.2	NP_001311051.1:p.(Tyr117=)	NC_000015.9:g.22960838C>T	(Likely) benign	1 lab	3eb2d77245
X:41333358 NYX G>T	X	41333358	41333358	G	T	NYX	c.652G>T	NM_022567.2	NP_072089.1:p.(Val218Phe)	NC_000023.10:g.41333358G>T	VUS	1 lab	3eb50850f6
22:26853909 HPS4 G>A	22	26853909	26853909	G	A	HPS4	c.1871C>T	NM_001349898.1	NP_001336827.1:p.(Pro624Leu)	NC_000022.10:g.26853909G>A	VUS	1 lab	3eb55fe5ad
9:123210192 CDK5RAP2 G>C	9	123210192	123210192	G	C	CDK5RAP2	c.3006C>G	NM_018249.5	NP_060719.4:p.(Pro1002=)	NC_000009.11:g.123210192G>C	(Likely) benign	1 lab	3eb7d89d3b
19:38573669 SIPA1L3 G>T	19	38573669	38573669	G	T	SIPA1L3	c.1464G>T	NM_015073.2	NP_055888.1:p.(Arg488=)	NC_000019.9:g.38573669G>T	(Likely) benign	1 lab	3eb8cd558e
15:82574979 SAXO2 A>G	15	82574979	82574979	A	G	SAXO2	c.773A>G	NM_001008226.1	NP_001008227.1:p.(Tyr258Cys)	NC_000015.9:g.82574979A>G	VUS	1 lab	3eb95269fa
15:86702202 AGBL1 G>A	15	86702202	86702202	G	A	AGBL1	c.433G>A	NM_152336.3	NP_689549.3:p.(Glu145Lys)	NC_000015.9:g.86702202G>A	VUS	1 lab	3eb9f369b6
3:148930383 CP A>G	3	148930383	148930383	A	G	CP	c.249T>C	NM_000096.3	NP_000087.1:p.(Thr83=)	NC_000003.11:g.148930383A>G	(Likely) benign	1 lab	3eba52a61c
5:127680099 FBN2 G>A	5	127680099	127680099	G	A	FBN2	c.3321C>T	NM_001999.3	NP_001990.2:p.(Asp1107=)	NC_000005.9:g.127680099G>A	(Likely) benign	1 lab	3ebb80aa94
17:27065187 NEK8 G>A	17	27065187	27065187	G	A	NEK8	c.1146G>A	NM_178170.3	NP_835464.1:p.(Ser382=)	NC_000017.10:g.27065187G>A	(Likely) benign	1 lab	3ebce50d9a
9:137716595 COL5A1 C>G	9	137716595	137716595	C	G	COL5A1	c.4848C>G	NM_000093.4	NP_000084.3:p.(Asn1616Lys)	NC_000009.11:g.137716595C>G	VUS	1 lab	3ebcf33414
12:94772697 CEP83 A>G	12	94772697	94772697	A	G	CEP83	c.671T>C	NM_016122.2	NP_057206.2:p.(Leu224Ser)	NC_000012.11:g.94772697A>G	VUS	1 lab	3ebd6bcb3a
14:64554507 SYNE2 G>T	14	64554507	64554507	G	T	SYNE2	c.11603G>T	NM_182914.2	NP_878918.2:p.(Ser3868Ile)	NC_000014.8:g.64554507G>T	VUS	1 lab	3ec1168f1e
5:138861286 STING1 G>A	5	138861286	138861286	G	A	STING1	c.4C>T	NM_198282.4	NP_938023.1:p.(Pro2Ser)	NC_000005.9:g.138861286G>A	(Likely) benign	1 lab	3ec229fbe9
11:67953336 KMT5B C>T	11	67953336	67953336	C	T	KMT5B	c.220G>A	NM_017635.4	NP_060105.3:p.(Ala74Thr)	NC_000011.9:g.67953336C>T	VUS	1 lab	3ec4aca156
4:128851960 MFSD8 T>C	4	128851960	128851960	T	C	MFSD8	c.876A>G	NM_152778.2	NP_689991.1:p.(Pro292=)	NC_000004.11:g.128851960T>C	(Likely) benign	1 lab	3ec547a090
1:19447755 UBR4 C>T	1	19447755	19447755	C	T	UBR4	c.10069G>A	NM_020765.2	NP_065816.2:p.(Gly3357Arg)	NC_000001.10:g.19447755C>T	VUS	1 lab	3ecaeb0f4d
4:106588717 ARHGEF38 G>A	4	106588717	106588717	G	A	ARHGEF38	c.2005G>A	NM_001242729.2	NP_001229658.1:p.(Val669Met)	NC_000004.11:g.106588717G>A	VUS	1 lab	3ecb4dd170
19:50393216 IL4I1 G>A	19	50393216	50393216	G	A	IL4I1	c.1481C>T	NM_001258018.1	NP_001244947.1:p.(Pro494Leu)	NC_000019.9:g.50393216G>A	VUS	1 lab	3ecc11ddfd
8:105440299 DPYS T>C	8	105440299	105440299	T	C	DPYS	c.1001A>G	NM_001385.2	NP_001376.1:p.(Gln334Arg)	NC_000008.10:g.105440299T>C	(Likely) pathogenic	1 lab	3ed0629c32
4:15569106 CC2D2A GT>G	4	15569106	15569107	GT	G	CC2D2A	c.3288+2del	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15569107del	(Likely) pathogenic	1 lab	3ed0c9d08d
16:3642737 SLX4 G>C	16	3642737	3642737	G	C	SLX4	c.2290C>G	NM_032444.2	NP_115820.2:p.(Pro764Ala)	NC_000016.9:g.3642737G>C	(Likely) benign	1 lab	3ed1d6b74d
16:2138293 TSC2 CCGGCTCCGCCACATCAAG>C	16	2138293	2138322	CCGGCTCCGCCACATCAAG	C	TSC2	c.5238_5255del	NM_000548.5	NP_000539.2:p.(His1746_Arg1751del)	NC_000016.9:g.2138305_2138322del	(Likely) pathogenic	1 lab	3ed1e0c29b
2:131098577 VMA22 C>A	2	131098577	131098577	C	A	VMA22	c.319G>T	NM_001321118.1	NP_001308047.1:p.(Glu107Ter)	NC_000002.11:g.131098577C>A	(Likely) pathogenic	1 lab	3ed2672552
8:42297125 SLC20A2 G>C	8	42297125	42297125	G	C	SLC20A2	c.777C>G	NM_001257180.2	NP_001244109.1:p.(Ser259Arg)	NC_000008.10:g.42297125G>C	(Likely) benign	1 lab	3ed29b87d5
13:47469960 HTR2A A>G	13	47469960	47469960	A	G	HTR2A	c.82T>C	NM_000621.4	NP_000612.1:p.(Tyr28His)	NC_000013.10:g.47469960A>G	VUS	1 lab	3ed482473f
16:3778424 CREBBP T>C	16	3778424	3778424	T	C	CREBBP	c.6624A>G	NM_004380.2	NP_004371.2:p.(Gln2208=)	NC_000016.9:g.3778424T>C	(Likely) benign	1 lab	3ed8d16ad6
X:112066289 AMOT C>T	X	112066289	112066289	C	T	AMOT	c.66G>A	NM_001113490.1	NP_001106962.1:p.(Gln22=)	NC_000023.10:g.112066289C>T	(Likely) benign	1 lab	3ed982f034
1:216371705 USH2A C>A	1	216371705	216371705	C	A	USH2A	c.4033G>T	NM_206933.2	NP_996816.2:p.(Ala1345Ser)	NC_000001.10:g.216371705C>A	VUS	1 lab	3ed9f5b813
X:77289257 ATP7A T>C	X	77289257	77289257	T	C	ATP7A	c.3449T>C	NM_000052.6	NP_000043.4:p.(Ile1150Thr)	NC_000023.10:g.77289257T>C	VUS	1 lab	3edcf4c38a
9:14806784 FREM1 G>A	9	14806784	14806784	G	A	FREM1	c.3149C>T	NM_144966.5	NP_659403.4:p.(Ala1050Val)	NC_000009.11:g.14806784G>A	VUS	1 lab	3edd2871fd
3:139063020 MRPS22 G>T	3	139063020	139063020	G	T	MRPS22	c.152G>T	NM_020191.3	NP_064576.1:p.(Arg51Leu)	NC_000003.11:g.139063020G>T	VUS	1 lab	3edd83f0f8
15:41680645 NDUFAF1 C>T	15	41680645	41680645	C	T	NDUFAF1	c.834+1G>A	NM_016013.3	NP_057097.2:p.?	NC_000015.9:g.41680645C>T	VUS	1 lab	3eddb42b1f
6:35466205 TULP1 C>T	6	35466205	35466205	C	T	TULP1	c.1528G>A	NM_003322.5	NP_003313.3:p.(Ala510Thr)	NC_000006.11:g.35466205C>T	VUS	1 lab	3eddb85804
7:116339936 MET G>A	7	116339936	116339936	G	A	MET	c.798G>A	NM_001127500.1	NP_001120972.1:p.(Arg266=)	NC_000007.13:g.116339936G>A	(Likely) benign	1 lab	3ede4115b9
7:21603893 DNAH11 C>T	7	21603893	21603893	C	T	DNAH11				NC_000007.13:g.21603893C>T	(Likely) benign	1 lab	3edfac0bbf
16:84182726 DNAAF1 A>G	16	84182726	84182726	A	G	DNAAF1	c.239A>G	NM_178452.5	NP_848547.4:p.(Asp80Gly)	NC_000016.9:g.84182726A>G	VUS	1 lab	3edfbfd892
11:64545560 SF1 G>A	11	64545560	64545560	G	A	SF1	c.305C>T	NM_001178030.1	NP_001171501.1:p.(Pro102Leu)	NC_000011.9:g.64545560G>A	VUS	1 lab	3ee0b16415
1:145765187 GPHRA C>T	1	145765187	145765187	C	T	GPHRA	c.1125G>A	NM_001097613.2	NP_001091082.2:p.(Met375Ile)	NC_000001.10:g.145765187C>T	VUS	1 lab	3ee17806f6
2:27454944 CAD G>A	2	27454944	27454944	G	A	CAD	c.2497G>A	NM_004341.4	NP_004332.2:p.(Asp833Asn)	NC_000002.11:g.27454944G>A	(Likely) benign	1 lab	3ee31d5621
5:36985804 NIPBL G>A	5	36985804	36985804	G	A	NIPBL	c.2522G>A	NM_015384.4	NP_056199.2:p.(Arg841Gln)	NC_000005.9:g.36985804G>A	VUS	1 lab	3ee3671462
2:179413379 TTN C>G	2	179413379	179413379	C	G	TTN	c.92974G>C	NM_001267550.1	NP_001254479.1:p.(Gly30992Arg)	NC_000002.11:g.179413379C>G	VUS	1 lab	3ee37c7349
2:241723155 KIF1A C>T	2	241723155	241723155	C	T	KIF1A	c.798+1G>A	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241723155C>T	(Likely) pathogenic	1 lab	3ee4282dbf
6:3155144 TUBB2A G>A	6	3155144	3155144	G	A	TUBB2A	c.36C>T	NM_001310315.1	NP_001297244.1:p.(Ala12=)	NC_000006.11:g.3155144G>A	(Likely) benign	1 lab	3ee445415b
9:75309587 TMC1 A>G	9	75309587	75309587	A	G	TMC1	c.193A>G	NM_138691.2	NP_619636.2:p.(Lys65Glu)	NC_000009.11:g.75309587A>G	(Likely) benign	1 lab	3ee83bc4b3
15:80472513 FAH C>T	15	80472513	80472513	C	T	FAH	c.1008C>T	NM_000137.2	NP_000128.1:p.(Asn336=)	NC_000015.9:g.80472513C>T	(Likely) benign	1 lab	3ee96e182e
2:241661306 KIF1A G>A	2	241661306	241661306	G	A	KIF1A	c.4666-5C>T	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241661306G>A	(Likely) benign	1 lab	3ee9b3ff83
X:37670146 CYBB C>T	X	37670146	37670146	C	T	CYBB	c.1689C>T	NM_000397.3	NP_000388.2:p.(Phe563=)	NC_000023.10:g.37670146C>T	(Likely) benign	1 lab	3eea145087
20:52789601 CYP24A1 A>G	20	52789601	52789601	A	G	CYP24A1	c.296T>C	NM_000782.4	NP_000773.2:p.(Met99Thr)	NC_000020.10:g.52789601A>G	VUS	1 lab	3eea3930c4
5:118842568 HSD17B4 A>G	5	118842568	118842568	A	G	HSD17B4	c.1392A>G	NM_001199291.2	NP_001186220.1:p.(Val464=)	NC_000005.9:g.118842568A>G	VUS	1 lab	3eec9f20a1
20:10625805 JAG1 GTTCC>G	20	10625805	10625813	GTTCC	G	JAG1	c.2209_2212del	NM_000214.3	NP_000205.1:p.(Gly737GlnfsTer5)	NC_000020.10:g.10625810_10625813del	(Likely) pathogenic	1 lab	3eecbc881f
X:41060458 USP9X C>T	X	41060458	41060458	C	T	USP9X	c.4749C>T	NM_001039591.3	NP_001034680.2:p.(Asn1583=)	NC_000023.10:g.41060458C>T	(Likely) benign	1 lab	3eee1d91af
X:154250726 F8 G>A	X	154250726	154250726	G	A	F8	c.102C>T	NM_000132.3	NP_000123.1:p.(Asp34=)	NC_000023.10:g.154250726G>A	(Likely) benign	1 lab	3eeea2c323
11:792882 SLC25A22 C>T	11	792882	792882	C	T	SLC25A22	c.400G>A	NM_001191060.1	NP_001177989.1:p.(Ala134Thr)	NC_000011.9:g.792882C>T	VUS	1 lab	3ef0b1f0b7
14:55655657 DLGAP5 T>C	14	55655657	55655657	T	C	DLGAP5	c.238+3A>G	NM_001146015.1	NP_001139487.1:p.?	NC_000014.8:g.55655657T>C	(Likely) benign	1 lab	3ef19268c4
X:123034478 XIAP C>T	X	123034478	123034478	C	T	XIAP	c.1235C>T	NM_001167.3	NP_001158.2:p.(Ala412Val)	NC_000023.10:g.123034478C>T	VUS	1 lab	3ef28fa1b3
X:153780249 IKBKG G>A	X	153780249	153780249	G	A	IKBKG	c.32G>A	NM_001099857.2	NP_001093327.1:p.(Cys11Tyr)	NC_000023.10:g.153780249G>A	VUS	1 lab	3ef2a33ea1
4:8848052 HMX1 T>C	4	8848052	8848052	T	C	HMX1	c.395-2A>G	NM_001306142.1	NP_001293071.1:p.?	NC_000004.11:g.8848052T>C	VUS	1 lab	3ef2e8fe9d
X:39911629 BCOR C>T	X	39911629	39911629	C	T	BCOR	c.5001G>A	NM_001123385.1	NP_001116857.1:p.(Ser1667=)	NC_000023.10:g.39911629C>T	(Likely) benign	1 lab	3ef3b22a83
19:49436981 DHDH G>T	19	49436981	49436981	G	T	DHDH	c.3G>T	NM_014475.3	NP_055290.1:p.(Met1?)	NC_000019.9:g.49436981G>T	VUS	1 lab	3ef3bab62c
20:25284273 ABHD12 G>A	20	25284273	25284273	G	A	ABHD12	c.951-9C>T	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25284273G>A	(Likely) benign	1 lab	3ef428bd97
7:154379423 MISSING G>A	7	154379423	154379423	G	A	MISSING				NC_000007.13:g.154379423G>A	(Likely) benign	1 lab	3ef46b7331
6:152690092 SYNE1 C>T	6	152690092	152690092	C	T	SYNE1	c.9807+15G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152690092C>T	(Likely) benign	1 lab	3ef49cb6df
22:50666409 TUBGCP6 C>T	22	50666409	50666409	C	T	TUBGCP6	c.1339G>A	NM_020461.3	NP_065194.2:p.(Val447Ile)	NC_000022.10:g.50666409C>T	VUS	1 lab	3ef5ce0240
11:61719436 BEST1 G>T	11	61719436	61719436	G	T	BEST1	c.152+6G>T	NM_001363592.1	NP_001350521.1:p.?	NC_000011.9:g.61719436G>T	(Likely) benign	1 lab	3ef672498c
2:96942978 SNRNP200 C>G	2	96942978	96942978	C	G	SNRNP200	c.5933G>C	NM_014014.4	NP_054733.2:p.(Gly1978Ala)	NC_000002.11:g.96942978C>G	(Likely) benign	1 lab	3ef8d7067f
5:70763248 BDP1 C>T	5	70763248	70763248	C	T	BDP1	c.853C>T	NM_018429.2	NP_060899.2:p.(Arg285Cys)	NC_000005.9:g.70763248C>T	VUS	1 lab	3ef96666e9
1:31440090 PUM1 C>T	1	31440090	31440090	C	T	PUM1	c.1713G>A	NM_001020658.1	NP_001018494.1:p.(Ala571=)	NC_000001.10:g.31440090C>T	(Likely) benign	1 lab	3efd3933b4
10:102748351 TWNK C>T	10	102748351	102748351	C	T	TWNK	c.384C>T	NM_001163812.1	NP_001157284.1:p.(Ser128=)	NC_000010.10:g.102748351C>T	(Likely) benign	1 lab	3efd72326e
11:124764206 ROBO4 C>T	11	124764206	124764206	C	T	ROBO4	c.1209G>A	NM_019055.5	NP_061928.4:p.(Gln403=)	NC_000011.9:g.124764206C>T	(Likely) benign	1 lab	3efff19073
9:119460300 TRIM32 G>A	9	119460300	119460300	G	A	TRIM32	c.279G>A	NM_012210.3	NP_036342.2:p.(Glu93=)	NC_000009.11:g.119460300G>A	(Likely) benign	1 lab	3f01079452
11:57080733 TNKS1BP1 C>T	11	57080733	57080733	C	T	TNKS1BP1	c.1429G>A	NM_033396.3	NP_203754.2:p.(Glu477Lys)	NC_000011.9:g.57080733C>T	VUS	1 lab	3f011a35e3
7:91830748 KRIT1 A>C	7	91830748	91830748	A	C	KRIT1	c.2026-11T>G	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91830748A>C	(Likely) pathogenic	1 lab	3f01a70999
2:219924915 IHH T>A	2	219924915	219924915	T	A	IHH	c.275A>T	NM_002181.3	NP_002172.2:p.(Lys92Met)	NC_000002.11:g.219924915T>A	VUS	1 lab	3f01e22550
X:54360078 WNK3 C>T	X	54360078	54360078	C	T	WNK3	c.29G>A	NM_020922.4	NP_065973.2:p.(Ser10Asn)	NC_000023.10:g.54360078C>T	VUS	1 lab	3f056423b6
6:152686071 SYNE1 A>G	6	152686071	152686071	A	G	SYNE1	c.10056T>C	NM_182961.3	NP_892006.3:p.(Ser3352=)	NC_000006.11:g.152686071A>G	(Likely) benign	1 lab	3f067d7d5f
19:12768867 MAN2B1 C>T	19	12768867	12768867	C	T	MAN2B1	c.1309+10G>A	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12768867C>T	(Likely) benign	1 lab	3f0a747a65
5:89924604 ADGRV1 G>A	5	89924604	89924604	G	A	ADGRV1	c.1464G>A	NM_032119.4	NP_115495.3:p.(Leu488=)	NC_000005.9:g.89924604G>A	(Likely) benign	1 lab	3f0bc16854
1:240370884 FMN2 G>C	1	240370884	240370884	G	C	FMN2	c.2772G>C	NM_020066.5	NP_064450.3:p.(Pro924=)	NC_000001.10:g.240370884G>C	(Likely) benign	1 lab	3f0bcebc13
5:140062788 HARS1 CTAT>C	5	140062788	140062791	CTAT	C	HARS1	c.194_196del	NM_002109.6	NP_002100.2:p.(Tyr65_Ser66delinsCys)	NC_000005.9:g.140062789_140062791del	(Likely) pathogenic	1 lab	3f0c644b22
14:23885201 MYH7 CT>C	14	23885201	23885202	CT	C	MYH7	c.4953+11del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885202del	(Likely) benign	1 lab	3f0d1f48f5
15:48704879 FBN1 T>C	15	48704879	48704879	T	C	FBN1	c.8113A>G	NM_000138.4	NP_000129.3:p.(Met2705Val)	NC_000015.9:g.48704879T>C	(Likely) benign	1 lab	3f0f32ac07
17:29587534 NF1 G>A	17	29587534	29587534	G	A	NF1	c.4514+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587534G>A	(Likely) pathogenic	1 lab	3f0fee8c8e
15:31321574 TRPM1 G>A	15	31321574	31321574	G	A	TRPM1	c.3199C>T	NM_001252020.1	NP_001238949.1:p.(Pro1067Ser)	NC_000015.9:g.31321574G>A	VUS	1 lab	3f1189bb4a
X:39922118 BCOR C>T	X	39922118	39922118	C	T	BCOR	c.4054G>A	NM_001123385.1	NP_001116857.1:p.(Asp1352Asn)	NC_000023.10:g.39922118C>T	(Likely) benign	1 lab	3f1189ee50
20:36631076 TTI1 C>T	20	36631076	36631076	C	T	TTI1	c.2606G>A	NM_014657.2	NP_055472.1:p.(Arg869His)	NC_000020.10:g.36631076C>T	(Likely) benign	1 lab	3f11988115
11:57558974 CTNND1 G>C	11	57558974	57558974	G	C	CTNND1	c.24G>C	NM_001085458.1	NP_001078927.1:p.(Ser8=)	NC_000011.9:g.57558974G>C	(Likely) benign	1 lab	3f12c54a01
6:56362733 DST T>A	6	56362733	56362733	T	A	DST	c.13658A>T	NM_001144769.2	NP_001138241.1:p.(Glu4553Val)	NC_000006.11:g.56362733T>A	(Likely) benign	1 lab	3f13064d2a
11:67402713 TBX10 C>G	11	67402713	67402713	C	G	TBX10	c.29G>C	NM_005995.4	NP_005986.2:p.(Gly10Ala)	NC_000011.9:g.67402713C>G	VUS	1 lab	3f17013f97
2:179604695 TTN A>C	2	179604695	179604695	A	C	TTN	c.13265T>G	NM_001267550.1	NP_001254479.1:p.(Ile4422Ser)	NC_000002.11:g.179604695A>C	VUS	1 lab	3f18467860
5:139227913 NRG2 C>A	5	139227913	139227913	C	A	NRG2	c.2166G>T	NM_013982.2	NP_053585.1:p.(Glu722Asp)	NC_000005.9:g.139227913C>A	VUS	1 lab	3f18f6778d
X:7811746 VCX C>T	X	7811746	7811746	C	T	VCX	c.310C>T	NM_013452.2	NP_038480.2:p.(Leu104=)	NC_000023.10:g.7811746C>T	(Likely) benign	1 lab	3f1932622c
3:132249836 DNAJC13 T>A	3	132249836	132249836	T	A	DNAJC13	c.6541-6T>A	NM_001329126.1	NP_001316055.1:p.?	NC_000003.11:g.132249836T>A	VUS	1 lab	3f19784e48
X:54949578 TRO G>T	X	54949578	54949578	G	T	TRO	c.613G>T	NM_001039705.2	NP_001034794.1:p.(Ala205Ser)	NC_000023.10:g.54949578G>T	(Likely) benign	1 lab	3f19a5dc43
5:180057642 FLT4 C>T	5	180057642	180057642	C	T	FLT4	c.313G>A	NM_182925.4	NP_891555.2:p.(Asp105Asn)	NC_000005.9:g.180057642C>T	(Likely) benign	1 lab	3f1a98be0e
17:78186067 SGSH C>G	17	78186067	78186067	C	G	SGSH	c.752G>C	NM_001352921.1	NP_001339850.1:p.(Gly251Ala)	NC_000017.10:g.78186067C>G	VUS	1 lab	3f1b93b9d3
X:1422866 CSF2RA G>A	X	1422866	1422866	G	A	CSF2RA	c.997G>A	NM_001161529.1	NP_001155001.1:p.(Val333Met)	NC_000023.10:g.1422866G>A	(Likely) benign	1 lab	3f1cdefa85
3:128603546 ACAD9 C>A	3	128603546	128603546	C	A	ACAD9	c.201C>A	NM_014049.4	NP_054768.2:p.(Ile67=)	NC_000003.11:g.128603546C>A	(Likely) benign	1 lab	3f1cff5209
17:72916498 USH1G G>A	17	72916498	72916498	G	A	USH1G	c.433C>T	NM_173477.4	NP_775748.2:p.(Arg145Trp)	NC_000017.10:g.72916498G>A	VUS	1 lab	3f1d1b3b31
18:21413842 LAMA3 T>G	18	21413842	21413842	T	G	LAMA3	c.2874T>G	NM_198129.2	NP_937762.2:p.(Val958=)	NC_000018.9:g.21413842T>G	(Likely) benign	1 lab	3f21d608ae
12:49445414 KMT2D A>T	12	49445414	49445414	A	T	KMT2D	c.2052T>A	NM_003482.3	NP_003473.3:p.(Pro684=)	NC_000012.11:g.49445414A>T	(Likely) benign	1 lab	3f22bcfa26
1:161137201 PPOX G>T	1	161137201	161137201	G	T	PPOX	c.263G>T	NM_001122764.3	NP_001116236.1:p.(Arg88Leu)	NC_000001.10:g.161137201G>T	(Likely) benign	1 lab	3f243a6469
3:121489439 IQCB1 TA>T	3	121489439	121489442	TA	T	IQCB1	c.1568-19del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121489442del	(Likely) benign	1 lab	3f24841719
14:105716323 BTBD6 G>A	14	105716323	105716323	G	A	BTBD6	c.772G>A	NM_033271.2	NP_150374.2:p.(Ala258Thr)	NC_000014.8:g.105716323G>A	VUS	1 lab	3f24f6663e
X:136113143 GPR101 T>C	X	136113143	136113143	T	C	GPR101	c.691A>G	NM_054021.1	NP_473362.1:p.(Arg231Gly)	NC_000023.10:g.136113143T>C	(Likely) benign	1 lab	3f26002519
1:147380467 GJA8 G>A	1	147380467	147380467	G	A	GJA8	c.385G>A	NM_005267.4	NP_005258.2:p.(Val129Ile)	NC_000001.10:g.147380467G>A	(Likely) benign	1 lab	3f28d06fc9
3:135913896 MSL2 G>A	3	135913896	135913896	G	A	MSL2	c.60C>T	NM_018133.4	NP_060603.2:p.(Tyr20=)	NC_000003.11:g.135913896G>A	(Likely) benign	1 lab	3f29503b78
X:107849991 COL4A5 TACCTGGGCC>T	X	107849991	107850012	TACCTGGGCC	T	COL4A5	c.2277_2285del	NM_033380.3	NP_203699.1:p.(Pro761_Gly763del)	NC_000023.10:g.107850004_107850012del	VUS	1 lab	3f29cc62e6
15:28515948 HERC2 C>T	15	28515948	28515948	C	T	HERC2	c.1150G>A	NM_004667.5	NP_004658.3:p.(Glu384Lys)	NC_000015.9:g.28515948C>T	VUS	1 lab	3f2ad64d46
16:18875146 SMG1 T>G	16	18875146	18875146	T	G	SMG1	c.3521A>C	NM_015092.4	NP_055907.3:p.(Lys1174Thr)	NC_000016.9:g.18875146T>G	VUS	1 lab	3f2b057bb7
X:66766125 AR GCCTCC>G	X	66766125	66766132	GCCTCC	G	AR	c.1140_1144del	NM_000044.6	NP_000035.2:p.(Pro381SerfsTer119)	NC_000023.10:g.66766128_66766132del	(Likely) pathogenic	1 lab	3f2ba10864
3:33114035 GLB1 C>T	3	33114035	33114035	C	T	GLB1	c.245+1G>A	NM_000404.3	NP_000395.2:p.?	NC_000003.11:g.33114035C>T	(Likely) pathogenic	1 lab	3f2c1915fa
X:129147416 BCORL1 T>G	X	129147416	129147416	T	G	BCORL1	c.668T>G	NM_001184772.2	NP_001171701.1:p.(Val223Gly)	NC_000023.10:g.129147416T>G	(Likely) benign	1 lab	3f2c5f6c8c
10:72358223 PRF1 C>T	10	72358223	72358223	C	T	PRF1	c.1254G>A	NM_001083116.1	NP_001076585.1:p.(Glu418=)	NC_000010.10:g.72358223C>T	(Likely) benign	1 lab	3f2d6d04ec
18:21148840 NPC1 G>A	18	21148840	21148840	G	A	NPC1	c.410C>T	NM_000271.4	NP_000262.2:p.(Thr137Met)	NC_000018.9:g.21148840G>A	(Likely) pathogenic	1 lab	3f2dff7d1b
1:38411427 INPP5B C>T	1	38411427	38411427	C	T	INPP5B	c.152+1G>A	NM_005540.3	NP_005531.2:p.?	NC_000001.10:g.38411427C>T	VUS	1 lab	3f2e0f0365
1:16474982 EPHA2 C>G	1	16474982	16474982	C	G	EPHA2	c.714G>C	NM_004431.4	NP_004422.2:p.(Pro238=)	NC_000001.10:g.16474982C>G	(Likely) benign	1 lab	3f30bead24
X:153173283 ARHGAP4 C>A	X	153173283	153173283	C	A	ARHGAP4	c.2861G>T	NM_001164741.1	NP_001158213.1:p.(Arg954Leu)	NC_000023.10:g.153173283C>A	(Likely) benign	1 lab	3f312e6635
2:55887325 PNPT1 C>T	2	55887325	55887325	C	T	PNPT1	c.1251G>A	NM_033109.4	NP_149100.2:p.(Gly417=)	NC_000002.11:g.55887325C>T	(Likely) benign	1 lab	3f317ebb01
6:144508137 STX11 GCGC>G	6	144508137	144508140	GCGC	G	STX11	c.374_376del	NM_003764.4	NP_003755.2:p.(Ala125_Arg126delinsGly)	NC_000006.11:g.144508138_144508140del	(Likely) pathogenic	1 lab	3f32b28b9a
6:13305407 TBC1D7 T>C	6	13305407	13305407	T	C	TBC1D7	c.808A>G	NM_016495.5	NP_057579.1:p.(Ser270Gly)	NC_000006.11:g.13305407T>C	(Likely) benign	1 lab	3f34321f56
2:85595863 ELMOD3 T>G	2	85595863	85595863	T	G	ELMOD3	c.254T>G	NM_001329791.1	NP_001316720.1:p.(Ile85Ser)	NC_000002.11:g.85595863T>G	VUS	1 lab	3f38a9e851
12:102025368 MYBPC1 A>T	12	102025368	102025368	A	T	MYBPC1	c.309A>T	NM_002465.3	NP_002456.2:p.(Ile103=)	NC_000012.11:g.102025368A>T	(Likely) benign	1 lab	3f3aa06640
1:34677946 C1orf94 C>T	1	34677946	34677946	C	T	C1orf94	c.1660C>T	NM_001134734.2	NP_001128206.1:p.(Pro554Ser)	NC_000001.10:g.34677946C>T	VUS	1 lab	3f3be0a90f
13:20797461 GJB6 G>T	13	20797461	20797461	G	T	GJB6	c.159C>A	NM_001110219.3	NP_001103689.1:p.(Cys53Ter)	NC_000013.10:g.20797461G>T	(Likely) pathogenic	1 lab	3f3dc12553
1:3328996 PRDM16 C>T	1	3328996	3328996	C	T	PRDM16	c.2235C>T	NM_022114.3	NP_071397.3:p.(Leu745=)	NC_000001.10:g.3328996C>T	(Likely) benign	1 lab	3f3f4104e8
1:100347161 AGL A>G	1	100347161	100347161	A	G	AGL	c.2222A>G	NM_000028.2	NP_000019.2:p.(Gln741Arg)	NC_000001.10:g.100347161A>G	VUS	1 lab	3f400b0e8f
1:78392222 NEXN G>A	1	78392222	78392222	G	A	NEXN	c.613G>A	NM_144573.3	NP_653174.3:p.(Glu205Lys)	NC_000001.10:g.78392222G>A	VUS	1 lab	3f4fca0b65
2:179430872 TTN G>A	2	179430872	179430872	G	A	TTN	c.79987C>T	NM_001267550.1	NP_001254479.1:p.(Leu26663Phe)	NC_000002.11:g.179430872G>A	VUS	1 lab	3f50203317
9:135204861 SETX A>G	9	135204861	135204861	A	G	SETX	c.2124T>C	NM_001351527.1	NP_001338456.1:p.(Ser708=)	NC_000009.11:g.135204861A>G	(Likely) benign	1 lab	3f41e73362
2:73717947 ALMS1 A>G	2	73717947	73717947	A	G	ALMS1	c.8864A>G	NM_015120.4	NP_055935.4:p.(Asp2955Gly)	NC_000002.11:g.73717947A>G	VUS	1 lab	3f41e8cd2c
8:10465132 RP1L1 G>A	8	10465132	10465132	G	A	RP1L1	c.6476C>T	NM_178857.5	NP_849188.4:p.(Pro2159Leu)	NC_000008.10:g.10465132G>A	(Likely) benign	1 lab	3f4271192d
20:44642833 MMP9 A>C	20	44642833	44642833	A	C	MMP9	c.1821A>C	NM_004994.3	NP_004985.2:p.(Gly607=)	NC_000020.10:g.44642833A>C	(Likely) benign	1 lab	ec6d1fdad3
5:176520341 FGFR4 C>T	5	176520341	176520341	C	T	FGFR4	c.1066C>T	NM_022963.3	NP_075252.2:p.(Arg356Cys)	NC_000005.9:g.176520341C>T	VUS	1 lab	3f46abe22b
9:35748485 GBA2 C>T	9	35748485	35748485	C	T	GBA2	c.217G>A	NM_020944.2	NP_065995.1:p.(Glu73Lys)	NC_000009.11:g.35748485C>T	(Likely) benign	1 lab	3f492f4ba6
11:17617711 OTOG C>A	11	17617711	17617711	C	A	OTOG	c.3561+10C>A	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17617711C>A	(Likely) benign	1 lab	3f49e7171e
10:73485206 CDH23 C>T	10	73485206	73485206	C	T	CDH23	c.3508C>T	NM_022124.5	NP_071407.4:p.(Arg1170Trp)	NC_000010.10:g.73485206C>T	VUS	1 lab	3f4a46a2fe
8:82588523 IMPA1 A>T	8	82588523	82588523	A	T	IMPA1	c.480-9T>A	NM_001144878.1	NP_001138350.1:p.?	NC_000008.10:g.82588523A>T	(Likely) benign	1 lab	3f4bb2ca03
5:118513725 DMXL1 T>A	5	118513725	118513725	T	A	DMXL1	c.6402T>A	NM_001290322.2	NP_001277251.1:p.(Ser2134=)	NC_000005.9:g.118513725T>A	VUS	1 lab	3f5327680b
3:180381703 CCDC39 A>G	3	180381703	180381703	A	G	CCDC39	c.162T>C	NM_181426.2	NP_852091.1:p.(Ser54=)	NC_000003.11:g.180381703A>G	(Likely) benign	1 lab	3f54e8c579
X:47084287 CDK16 G>A	X	47084287	47084287	G	A	CDK16	c.535G>A	NM_033018.3	NP_148978.2:p.(Glu179Lys)	NC_000023.10:g.47084287G>A	VUS	1 lab	3f554b66d1
1:10032197 NMNAT1 C>T	1	10032197	10032197	C	T	NMNAT1	c.66C>T	NM_001297778.1	NP_001284707.1:p.(Asn22=)	NC_000001.10:g.10032197C>T	(Likely) benign	1 lab	3f5597b94f
10:51586394 NCOA4 T>C	10	51586394	51586394	T	C	NCOA4	c.1870T>C	NM_001145260.1	NP_001138732.1:p.(Tyr624His)	NC_000010.10:g.51586394T>C	VUS	1 lab	3f55d45fdd
3:15676986 BTD G>A	3	15676986	15676986	G	A	BTD	c.100G>A	NM_000060.4	NP_000051.1:p.(Gly34Ser)	NC_000003.11:g.15676986G>A	(Likely) pathogenic	1 lab	3f569616bd
18:3457570 TGIF1 A>G	18	3457570	3457570	A	G	TGIF1	c.838A>G	NM_170695.3	NP_733796.2:p.(Thr280Ala)	NC_000018.9:g.3457570A>G	(Likely) benign	1 lab	3f56c6fbe8
3:58110220 FLNB C>T	3	58110220	58110220	C	T	FLNB	c.3886C>T	NM_001164317.1	NP_001157789.1:p.(Pro1296Ser)	NC_000003.11:g.58110220C>T	VUS	1 lab	3f57929a88
1:152284426 FLG C>G	1	152284426	152284426	C	G	FLG	c.2936G>C	NM_002016.1	NP_002007.1:p.(Arg979Thr)	NC_000001.10:g.152284426C>G	(Likely) benign	1 lab	3f5a157f32
2:69409684 ANTXR1 T>C	2	69409684	69409684	T	C	ANTXR1	c.1245T>C	NM_032208.2	NP_115584.1:p.(Asn415=)	NC_000002.11:g.69409684T>C	(Likely) benign	1 lab	3f5ddefb54
11:117209307 CEP164 C>T	11	117209307	117209307	C	T	CEP164	c.5C>T	NM_014956.4	NP_055771.4:p.(Ala2Val)	NC_000011.9:g.117209307C>T	VUS	1 lab	3f5eadfa50
5:13751258 DNAH5 T>C	5	13751258	13751258	T	C	DNAH5	c.11140A>G	NM_001369.2	NP_001360.1:p.(Ile3714Val)	NC_000005.9:g.13751258T>C	VUS	1 lab	3f5fbe46af
8:48740774 PRKDC A>T	8	48740774	48740774	A	T	PRKDC	c.8532T>A	NM_006904.6	NP_008835.5:p.(Leu2844=)	NC_000008.10:g.48740774A>T	(Likely) benign	1 lab	3f5fcde3bc
1:245849008 KIF26B C>T	1	245849008	245849008	C	T	KIF26B	c.2723C>T	NM_018012.4	NP_060482.2:p.(Ala908Val)	NC_000001.10:g.245849008C>T	VUS	1 lab	3f5fec5f01
17:29684029 NF1 C>A	17	29684029	29684029	C	A	NF1	c.7727C>A	NM_000267.3	NP_000258.1:p.(Ser2576Ter)	NC_000017.10:g.29684029C>A	(Likely) pathogenic	1 lab	3f6000c2fa
22:38119272 TRIOBP C>T	22	38119272	38119272	C	T	TRIOBP	c.709C>T	NM_001039141.2	NP_001034230.1:p.(Arg237Trp)	NC_000022.10:g.38119272C>T	(Likely) benign	1 lab	3f6101321f
8:104778647 RIMS2 G>A	8	104778647	104778647	G	A	RIMS2	c.580G>A	NM_001100117.2	NP_001093587.1:p.(Gly194Ser)	NC_000008.10:g.104778647G>A	VUS	1 lab	3f61882cba
17:3436223 TRPV3 G>T	17	3436223	3436223	G	T	TRPV3	c.793C>A	NM_001258205.1	NP_001245134.1:p.(Pro265Thr)	NC_000017.10:g.3436223G>T	VUS	1 lab	3f638d7982
11:47256330 DDB2 AAAAG>A	11	47256330	47256338	AAAAG	A	DDB2	c.730_733del	NM_000107.3	NP_000098.1:p.(Lys244Ter)	NC_000011.9:g.47256335_47256338del	(Likely) pathogenic	1 lab	3f64a176af
12:101018473 GAS2L3 G>T	12	101018473	101018473	G	T	GAS2L3	c.1890G>T	NM_174942.3	NP_777602.1:p.(Lys630Asn)	NC_000012.11:g.101018473G>T	VUS	1 lab	3f663e0f27
1:150054820 VPS45 A>C	1	150054820	150054820	A	C	VPS45	c.849A>C	NM_001279354.1	NP_001266283.1:p.(Pro283=)	NC_000001.10:g.150054820A>C	(Likely) benign	1 lab	3f6829a8cf
11:133939059 JAM3 G>T	11	133939059	133939059	G	T	JAM3	c.76+5G>T	NM_032801.4	NP_116190.3:p.?	NC_000011.9:g.133939059G>T	VUS	1 lab	402db66f43
20:57484481 GNAS A>G	20	57484481	57484481	A	G	GNAS	c.*520+3A>G	NM_001077490.2	NP_001070958.1:p.?	NC_000020.10:g.57484481A>G	VUS	1 lab	3f6c01cab3
X:24228546 ZFX G>A	X	24228546	24228546	G	A	ZFX	c.1471G>A	NM_001178085.1	NP_001171556.1:p.(Asp491Asn)	NC_000023.10:g.24228546G>A	VUS	1 lab	3f6efa1948
2:238296601 COL6A3 G>A	2	238296601	238296601	G	A	COL6A3	c.936C>T	NM_004369.3	NP_004360.2:p.(Leu312=)	NC_000002.11:g.238296601G>A	(Likely) benign	1 lab	3f6f0eaf3e
19:50795604 MYH14 G>A	19	50795604	50795604	G	A	MYH14	c.5214G>A	NM_001145809.1	NP_001139281.1:p.(Lys1738=)	NC_000019.9:g.50795604G>A	(Likely) benign	1 lab	3f6f99e6c4
10:104268800 SUFU G>C	10	104268800	104268800	G	C	SUFU	c.183-126G>C	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104268800G>C	(Likely) benign	1 lab	3f705a8ac6
X:31462590 DMD G>A	X	31462590	31462590	G	A	DMD	c.8715+8C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31462590G>A	(Likely) benign	1 lab	3f96738c40
12:6077340 VWF G>A	12	6077340	6077340	G	A	VWF	c.7730-7C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6077340G>A	(Likely) benign	1 lab	3f72a2348f
5:1294320 TERT A>T	5	1294320	1294320	A	T	TERT	c.681T>A	NM_198253.2	NP_937983.2:p.(Ser227Arg)	NC_000005.9:g.1294320A>T	(Likely) benign	1 lab	3f72a440d4
12:8671640 CLEC4D G>A	12	8671640	8671640	G	A	CLEC4D	c.268G>A	NM_080387.5	NP_525126.2:p.(Ala90Thr)	NC_000012.11:g.8671640G>A	(Likely) benign	1 lab	3f74c4ea96
17:29483000 NF1 G>C	17	29483000	29483000	G	C	NF1	c.61-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29483000G>C	(Likely) pathogenic	1 lab	3f7571ba8b
13:33590705 KL G>A	13	33590705	33590705	G	A	KL	c.127G>A	NM_004795.3	NP_004786.2:p.(Ala43Thr)	NC_000013.10:g.33590705G>A	(Likely) benign	1 lab	3f7647af18
12:65115487 GNS T>C	12	65115487	65115487	T	C	GNS	c.1309-2A>G	NM_002076.3	NP_002067.1:p.?	NC_000012.11:g.65115487T>C	(Likely) pathogenic	1 lab	3f77123d82
20:60888389 LAMA5 C>T	20	60888389	60888389	C	T	LAMA5	c.8786G>A	NM_005560.4	NP_005551.3:p.(Cys2929Tyr)	NC_000020.10:g.60888389C>T	VUS	1 lab	3f77dd8a55
14:105818730 PACS2 C>A	14	105818730	105818730	C	A	PACS2	c.223C>A	NM_001100913.2	NP_001094383.2:p.(Leu75Met)	NC_000014.8:g.105818730C>A	VUS	1 lab	3f77dda569
20:62326455 RTEL1 G>A	20	62326455	62326455	G	A	RTEL1	c.3452G>A	NM_032957.5	NP_116575.3:p.(Arg1151His)	NC_000020.10:g.62326455G>A	VUS	1 lab	ec73dc737d
2:179417866 TTN G>A	2	179417866	179417866	G	A	TTN	c.89761C>T	NM_001267550.1	NP_001254479.1:p.(Pro29921Ser)	NC_000002.11:g.179417866G>A	VUS	1 lab	3f7a99f4be
1:109477313 CLCC1 C>G	1	109477313	109477313	C	G	CLCC1	c.1635G>C	NM_001048210.2	NP_001041675.1:p.(Pro545=)	NC_000001.10:g.109477313C>G	(Likely) benign	1 lab	3f7c1b8724
3:27763427 EOMES G>C	3	27763427	27763427	G	C	EOMES	c.359C>G	NM_005442.3	NP_005433.2:p.(Ala120Gly)	NC_000003.11:g.27763427G>C	(Likely) benign	1 lab	3f7c2002d4
5:127599263 FBN2 C>A	5	127599263	127599263	C	A	FBN2	c.8046G>T	NM_001999.3	NP_001990.2:p.(Ser2682=)	NC_000005.9:g.127599263C>A	(Likely) benign	1 lab	3f7c773d70
2:26717879 OTOF G>A	2	26717879	26717879	G	A	OTOF	c.828C>T	NM_194248.2	NP_919224.1:p.(Cys276=)	NC_000002.11:g.26717879G>A	(Likely) benign	1 lab	3f7ea9fcdb
2:196753036 DNAH7 G>C	2	196753036	196753036	G	C	DNAH7	c.5352C>G	NM_018897.3	NP_061720.2:p.(Gly1784=)	NC_000002.11:g.196753036G>C	(Likely) benign	1 lab	3f80c6a5ea
19:44030709 ETHE1 C>T	19	44030709	44030709	C	T	ETHE1	c.184G>A	NM_014297.4	NP_055112.2:p.(Ala62Thr)	NC_000019.9:g.44030709C>T	(Likely) benign	1 lab	3f8147319f
X:50345676 SHROOM4 C>T	X	50345676	50345676	C	T	SHROOM4	c.3899G>A	NM_020717.3	NP_065768.2:p.(Gly1300Asp)	NC_000023.10:g.50345676C>T	(Likely) benign	1 lab	3f824bdd2e
19:50780105 MYH14 C>T	19	50780105	50780105	C	T	MYH14	c.3772C>T	NM_001145809.1	NP_001139281.1:p.(Arg1258Cys)	NC_000019.9:g.50780105C>T	VUS	1 lab	3f826629c4
7:42004921 GLI3 C>A	7	42004921	42004921	C	A	GLI3	c.3750G>T	NM_000168.5	NP_000159.3:p.(Lys1250Asn)	NC_000007.13:g.42004921C>A	VUS	1 lab	3f83d04de6
X:17819487 RAI2 T>G	X	17819487	17819487	T	G	RAI2	c.644A>C	NM_001172743.1	NP_001166214.1:p.(Gln215Pro)	NC_000023.10:g.17819487T>G	VUS	1 lab	3f852a2252
11:28131712 METTL15 G>C	11	28131712	28131712	G	C	METTL15	c.-253-1G>C	NM_152636.2	NP_689849.2:p.?	NC_000011.9:g.28131712G>C	VUS	1 lab	3f85a6c2ef
17:73754450 GALK1 G>A	17	73754450	73754450	G	A	GALK1	c.948C>T	NM_000154.1	NP_000145.1:p.(Asp316=)	NC_000017.10:g.73754450G>A	(Likely) benign	1 lab	3f8779cad2
11:554179 LRRC56 G>A	11	554179	554179	G	A	LRRC56	c.1532G>A	NM_198075.4	NP_932341.1:p.(Arg511Gln)	NC_000011.9:g.554179G>A	VUS	1 lab	3f89a4a247
18:55368506 ATP8B1 G>A	18	55368506	55368506	G	A	ATP8B1	c.433C>T	NM_005603.6	NP_005594.2:p.(Leu145=)	NC_000018.9:g.55368506G>A	(Likely) benign	1 lab	3f8a2c5282
X:8536395 ANOS1 T>A	X	8536395	8536395	T	A	ANOS1	c.1085A>T	NM_000216.3	NP_000207.2:p.(Glu362Val)	NC_000023.10:g.8536395T>A	VUS	1 lab	3f8cb09856
7:27239087 HOXA13 C>T	7	27239087	27239087	C	T	HOXA13	c.610G>A	NM_000522.5	NP_000513.2:p.(Ala204Thr)	NC_000007.13:g.27239087C>T	VUS	1 lab	3f8e6716aa
16:87678073 JPH3 C>T	16	87678073	87678073	C	T	JPH3	c.592C>T	NM_020655.3	NP_065706.2:p.(Leu198Phe)	NC_000016.9:g.87678073C>T	VUS	1 lab	3f8ebfc7fd
3:52325001 GLYCTK C>T	3	52325001	52325001	C	T	GLYCTK	c.403C>T	NM_145262.3	NP_660305.2:p.(Arg135Cys)	NC_000003.11:g.52325001C>T	VUS	1 lab	3f8f4922a3
18:43528462 EPG5 C>T	18	43528462	43528462	C	T	EPG5	c.1571+7G>A	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43528462C>T	(Likely) benign	1 lab	3f8f8d9837
20:10386326 MKKS C>T	20	10386326	10386326	C	T	MKKS	c.1282G>A	NM_018848.3	NP_061336.1:p.(Asp428Asn)	NC_000020.10:g.10386326C>T	(Likely) benign	1 lab	3f90fa8427
5:1278837 TERT G>T	5	1278837	1278837	G	T	TERT	c.2205C>A	NM_198253.2	NP_937983.2:p.(Pro735=)	NC_000005.9:g.1278837G>T	(Likely) benign	1 lab	3f9285c580
7:151329219 PRKAG2 C>T	7	151329219	151329219	C	T	PRKAG2	c.690G>A	NM_016203.3	NP_057287.2:p.(Ala230=)	NC_000007.13:g.151329219C>T	(Likely) benign	1 lab	3f929f2636
5:36679738 SLC1A3 C>T	5	36679738	36679738	C	T	SLC1A3	c.870C>T	NM_004172.4	NP_004163.3:p.(Pro290=)	NC_000005.9:g.36679738C>T	(Likely) benign	1 lab	3f94f8e0c6
6:170873630 TBP C>T	6	170873630	170873630	C	T	TBP	c.498-3C>T	NM_003194.4	NP_003185.1:p.?	NC_000006.11:g.170873630C>T	(Likely) benign	1 lab	3f95753522
16:628924 PIGQ C>T	16	628924	628924	C	T	PIGQ	c.1209C>T	NM_004204.3	NP_004195.2:p.(Tyr403=)	NC_000016.9:g.628924C>T	(Likely) benign	1 lab	3f970b29d1
5:90119294 ADGRV1 G>A	5	90119294	90119294	G	A	ADGRV1	c.16249G>A	NM_032119.4	NP_115495.3:p.(Val5417Ile)	NC_000005.9:g.90119294G>A	(Likely) benign	1 lab	3f976c25a6
1:45796883 MUTYH T>G	1	45796883	45796883	T	G	MUTYH	c.1447A>C	NM_001128425.2	NP_001121897.1:p.(Thr483Pro)	NC_000001.10:g.45796883T>G	(Likely) benign	1 lab	ec82e7c41a
7:11450887 THSD7A A>G	7	11450887	11450887	A	G	THSD7A	c.3745T>C	NM_015204.2	NP_056019.1:p.(Leu1249=)	NC_000007.13:g.11450887A>G	(Likely) benign	1 lab	3f985cba66
X:100383723 CENPI T>C	X	100383723	100383723	T	C	CENPI	c.1093T>C	NM_006733.3	NP_006724.2:p.(Ser365Pro)	NC_000023.10:g.100383723T>C	VUS	1 lab	3f98e30604
X:39933612 BCOR T>C	X	39933612	39933612	T	C	BCOR	c.987A>G	NM_001123385.1	NP_001116857.1:p.(Thr329=)	NC_000023.10:g.39933612T>C	(Likely) benign	1 lab	3f993be62b
4:6279251 WFS1 G>A	4	6279251	6279251	G	A	WFS1	c.69G>A	NM_006005.3	NP_005996.2:p.(Ala23=)	NC_000004.11:g.6279251G>A	(Likely) benign	1 lab	3f9a1c39b8
X:43590970 MAOA G>A	X	43590970	43590970	G	A	MAOA	c.426G>A	NM_001270458.1	NP_001257387.1:p.(Pro142=)	NC_000023.10:g.43590970G>A	(Likely) benign	1 lab	3f9a5341c3
8:140631352 KCNK9 G>C	8	140631352	140631352	G	C	KCNK9	c.284-10C>G	NM_001282534.1	NP_001269463.1:p.?	NC_000008.10:g.140631352G>C	(Likely) benign	1 lab	3f9aef42c6
14:35778160 PSMA6 A>G	14	35778160	35778160	A	G	PSMA6	c.212A>G	NM_002791.2	NP_002782.1:p.(Lys71Arg)	NC_000014.8:g.35778160A>G	(Likely) benign	1 lab	3f9c370a54
1:161645112 FCGR2B A>AG	1	161645112	161645114	A	AG	FCGR2B	c.817+11dup	NM_004001.4	NP_003992.3:p.?	NC_000001.10:g.161645114dup	(Likely) benign	1 lab	3f9db130d4
11:66206206 MRPL11 G>A	11	66206206	66206206	G	A	MRPL11	c.20C>T	NM_170739.3	NP_733935.1:p.(Ala7Val)	NC_000011.9:g.66206206G>A	(Likely) benign	1 lab	3f9db2b36d
14:68249545 ZFYVE26 C>T	14	68249545	68249545	C	T	ZFYVE26	c.4324G>A	NM_015346.3	NP_056161.2:p.(Asp1442Asn)	NC_000014.8:g.68249545C>T	(Likely) benign	1 lab	3f9f797ed0
11:46900813 LRP4 C>T	11	46900813	46900813	C	T	LRP4	c.2868G>A	NM_002334.3	NP_002325.2:p.(Glu956=)	NC_000011.9:g.46900813C>T	(Likely) benign	1 lab	3fa0c5a704
1:240256368 FMN2 C>T	1	240256368	240256368	C	T	FMN2	c.959C>T	NM_001305424.1	NP_001292353.1:p.(Ser320Phe)	NC_000001.10:g.240256368C>T	VUS	1 lab	3fa11fa9fc
16:4852538 ROGDI C>G	16	4852538	4852538	C	G	ROGDI	c.35G>C	NM_024589.2	NP_078865.1:p.(Arg12Pro)	NC_000016.9:g.4852538C>G	VUS	1 lab	3fa3ec1427
16:3632391 SLX4 C>T	16	3632391	3632391	C	T	SLX4	c.5457G>A	NM_032444.2	NP_115820.2:p.(Gln1819=)	NC_000016.9:g.3632391C>T	(Likely) benign	1 lab	3fa4d343b6
4:16077378 PROM1 G>A	4	16077378	16077378	G	A	PROM1	c.152C>T	NM_001145847.1	NP_001139319.1:p.(Pro51Leu)	NC_000004.11:g.16077378G>A	(Likely) benign	1 lab	3fa6851bd7
1:150998110 PRUNE1 A>G	1	150998110	150998110	A	G	PRUNE1	c.640A>G	NM_021222.2	NP_067045.1:p.(Ile214Val)	NC_000001.10:g.150998110A>G	(Likely) benign	1 lab	3fa85296d1
5:32276818 MTMR12 C>G	5	32276818	32276818	C	G	MTMR12	c.112G>C	NM_001040446.3	NP_001035536.1:p.(Glu38Gln)	NC_000005.9:g.32276818C>G	VUS	1 lab	3faa69a521
X:38664657 MID1IP1 G>A	X	38664657	38664657	G	A	MID1IP1	c.458G>A	NM_021242.5	NP_067065.1:p.(Gly153Glu)	NC_000023.10:g.38664657G>A	VUS	1 lab	3fad12707c
7:92146765 PEX1 G>A	7	92146765	92146765	G	A	PEX1	c.440C>T	NM_001282678.1	NP_001269607.1:p.(Pro147Leu)	NC_000007.13:g.92146765G>A	VUS	1 lab	3fadcf2246
1:215844467 USH2A C>T	1	215844467	215844467	C	T	USH2A	c.13980G>A	NM_206933.2	NP_996816.2:p.(Pro4660=)	NC_000001.10:g.215844467C>T	(Likely) benign	1 lab	3fae7a742d
1:201282592 PKP1 G>A	1	201282592	201282592	G	A	PKP1	c.605G>A	NM_000299.3	NP_000290.2:p.(Arg202His)	NC_000001.10:g.201282592G>A	(Likely) benign	1 lab	3fae8f5068
20:41101180 PTPRT G>T	20	41101180	41101180	G	T	PTPRT	c.1176C>A	NM_133170.3	NP_573400.3:p.(Asn392Lys)	NC_000020.10:g.41101180G>T	(Likely) benign	1 lab	3fafcea39c
9:126133698 CRB2 G>A	9	126133698	126133698	G	A	CRB2	c.2277G>A	NM_173689.6	NP_775960.4:p.(Trp759Ter)	NC_000009.11:g.126133698G>A	(Likely) pathogenic	1 lab	3fb32b3628
12:333225 SLC6A13 C>T	12	333225	333225	C	T	SLC6A13	c.1244G>A	NM_016615.5	NP_057699.2:p.(Arg415Gln)	NC_000012.11:g.333225C>T	(Likely) benign	1 lab	3fb4c26bf0
21:44589370 CRYAA G>A	21	44589370	44589370	G	A	CRYAA	c.161G>A	NM_000394.3	NP_000385.1:p.(Arg54His)	NC_000021.8:g.44589370G>A	VUS	1 lab	3fb4dcdbc4
1:5935038 NPHP4 C>T	1	5935038	5935038	C	T	NPHP4	c.2940G>A	NM_015102.4	NP_055917.1:p.(Thr980=)	NC_000001.10:g.5935038C>T	(Likely) benign	1 lab	3fb6c39171
9:414863 DOCK8 A>T	9	414863	414863	A	T	DOCK8	c.3612A>T	NM_203447.3	NP_982272.2:p.(Lys1204Asn)	NC_000009.11:g.414863A>T	(Likely) benign	1 lab	3fb8f7cf31
3:128614238 ACAD9 G>A	3	128614238	128614238	G	A	ACAD9	c.432G>A	NM_014049.4	NP_054768.2:p.(Ala144=)	NC_000003.11:g.128614238G>A	(Likely) benign	1 lab	3fb936458e
8:10466979 RP1L1 T>C	8	10466979	10466979	T	C	RP1L1	c.4629A>G	NM_178857.5	NP_849188.4:p.(Ala1543=)	NC_000008.10:g.10466979T>C	(Likely) benign	1 lab	3fb9843ea1
2:179440149 TTN T>G	2	179440149	179440149	T	G	TTN	c.70710A>C	NM_001267550.1	NP_001254479.1:p.(Glu23570Asp)	NC_000002.11:g.179440149T>G	VUS	1 lab	3fba66e792
X:110644336 DCX C>T	X	110644336	110644336	C	T	DCX	c.587G>A	NM_178153.2	NP_835366.1:p.(Arg196His)	NC_000023.10:g.110644336C>T	(Likely) pathogenic	1 lab	3fba76917b
X:152858130 CCNQ G>A	X	152858130	152858130	G	A	CCNQ	c.491C>T	NM_152274.5	NP_689487.2:p.(Thr164Ile)	NC_000023.10:g.152858130G>A	VUS	1 lab	ec8e2f72f8
1:5993352 NPHP4 A>G	1	5993352	5993352	A	G	NPHP4	c.1157T>C	NM_015102.4	NP_055917.1:p.(Met386Thr)	NC_000001.10:g.5993352A>G	VUS	1 lab	3fbb885b2a
17:29670077 NF1 CA>C	17	29670077	29670079	CA	C	NF1	c.7115del	NM_001042492.3	NP_001035957.1:p.(Lys2372SerfsTer24)	NC_000017.10:g.29670079del	(Likely) pathogenic	1 lab	3fbe78e43d
11:119216142 MFRP C>A	11	119216142	119216142	C	A	MFRP	c.629G>T	NM_031433.3	NP_113621.1:p.(Gly210Val)	NC_000011.9:g.119216142C>A	(Likely) benign	1 lab	3fbe901992
1:154932172 PYGO2 C>T	1	154932172	154932172	C	T	PYGO2	c.304G>A	NM_138300.4	NP_612157.1:p.(Gly102Arg)	NC_000001.10:g.154932172C>T	VUS	1 lab	3fbf2e916f
18:57122192 CCBE1 G>A	18	57122192	57122192	G	A	CCBE1	c.554-9C>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57122192G>A	(Likely) benign	1 lab	3fc072800c
11:119216506 MFRP C>A	11	119216506	119216506	C	A	MFRP	c.404G>T	NM_031433.3	NP_113621.1:p.(Gly135Val)	NC_000011.9:g.119216506C>A	VUS	1 lab	3fc12184dd
11:31811492 PAX6 C>T	11	31811492	31811492	C	T	PAX6	c.851G>A	NM_001310160.1	NP_001297089.1:p.(Arg284Lys)	NC_000011.9:g.31811492C>T	(Likely) benign	1 lab	3fc1912a41
18:6977767 LAMA1 T>C	18	6977767	6977767	T	C	LAMA1	c.6304A>G	NM_005559.3	NP_005550.2:p.(Ile2102Val)	NC_000018.9:g.6977767T>C	VUS	1 lab	3fc2269858
X:38024075 SRPX C>G	X	38024075	38024075	C	G	SRPX	c.600G>C	NM_006307.4	NP_006298.1:p.(Arg200=)	NC_000023.10:g.38024075C>G	(Likely) benign	1 lab	3fc24a78a1
19:18197635 IL12RB1 G>A	19	18197635	18197635	G	A	IL12RB1	c.-2C>T	NM_005535.3	NP_005526.1:p.?	NC_000019.9:g.18197635G>A	(Likely) benign	1 lab	ec97e08a24
14:70419008 SMOC1 G>C	14	70419008	70419008	G	C	SMOC1	c.253G>C	NM_001034852.2	NP_001030024.1:p.(Gly85Arg)	NC_000014.8:g.70419008G>C	VUS	1 lab	3fc382b457
2:98914423 VWA3B G>A	2	98914423	98914423	G	A	VWA3B	c.3211G>A	NM_144992.5	NP_659429.4:p.(Gly1071Arg)	NC_000002.11:g.98914423G>A	VUS	1 lab	ec98ea4d71
10:89474550 PAPSS2 G>T	10	89474550	89474550	G	T	PAPSS2	c.569G>T	NM_001015880.1	NP_001015880.1:p.(Arg190Leu)	NC_000010.10:g.89474550G>T	(Likely) benign	1 lab	3fc7654a90
19:52709305 PPP2R1A C>T	19	52709305	52709305	C	T	PPP2R1A	c.259C>T	NM_014225.5	NP_055040.2:p.(His87Tyr)	NC_000019.9:g.52709305C>T	(Likely) benign	1 lab	3fc8fb7282
2:55906874 PNPT1 C>G	2	55906874	55906874	C	G	PNPT1	c.622G>C	NM_033109.4	NP_149100.2:p.(Glu208Gln)	NC_000002.11:g.55906874C>G	(Likely) benign	1 lab	3fca191be8
10:50732666 ERCC6 GC>G	10	50732666	50732668	GC	G	ERCC6	c.809del	NM_000124.4	NP_000115.1:p.(Gly270AlafsTer59)	NC_000010.10:g.50732668del	(Likely) pathogenic	1 lab	3fca26a90e
X:27765056 DCAF8L2 G>C	X	27765056	27765056	G	C	DCAF8L2	c.44G>C	NM_001353448.1	NP_001340377.1:p.(Gly15Ala)	NC_000023.10:g.27765056G>C	(Likely) benign	1 lab	3fca53b5b6
13:23910866 SACS G>A	13	23910866	23910866	G	A	SACS	c.7149C>T	NM_014363.5	NP_055178.3:p.(Arg2383=)	NC_000013.10:g.23910866G>A	(Likely) benign	1 lab	3fcbe6b3d0
11:76867115 MYO7A C>A	11	76867115	76867115	C	A	MYO7A	c.448C>A	NM_000260.3	NP_000251.3:p.(Arg150=)	NC_000011.9:g.76867115C>A	(Likely) benign	1 lab	3fcbefd3c8
6:167369654 RNASET2 A>G	6	167369654	167369654	A	G	RNASET2				NC_000006.11:g.167369654A>G	(Likely) benign	1 lab	3fccfc501b
16:70542353 COG4 C>T	16	70542353	70542353	C	T	COG4	c.1017G>A	NM_015386.2	NP_056201.2:p.(Gln339=)	NC_000016.9:g.70542353C>T	(Likely) benign	1 lab	3fcf830339
1:23110917 EPHB2 GA>G	1	23110917	23110919	GA	G	EPHB2	c.161del	NM_017449.5	NP_059145.2:p.(Asn54ThrfsTer37)	NC_000001.10:g.23110919del	(Likely) pathogenic	1 lab	3fd2c83457
6:65300417 EYS CACTGAGCCTGTCAATGGTGGCAGA>C	6	65300417	65300441	CACTGAGCCTGTCAATGGTGGCAGA	C	EYS	c.5319_5342del	NM_001142800.2	NP_001136272.1:p.(Asn1773_Val1781delinsLys)	NC_000006.11:g.65300418_65300441del	(Likely) pathogenic	1 lab	3fd3577787
22:24129553 SMARCB1 G>GGCGC	22	24129553	24129569	G	GGCGC	SMARCB1	c.93+117_93+120dup	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24129566_24129569dup	(Likely) benign	1 lab	3fd3d197a8
17:56350189 MPO C>T	17	56350189	56350189	C	T	MPO	c.1712G>A	NM_000250.1	NP_000241.1:p.(Arg571Gln)	NC_000017.10:g.56350189C>T	VUS	1 lab	3fd422d06b
16:3306522 MEFV C>T	16	3306522	3306522	C	T	MEFV	c.66G>A	NM_000243.2	NP_000234.1:p.(Glu22=)	NC_000016.9:g.3306522C>T	(Likely) benign	1 lab	3fd48d309b
9:6254555 IL33 TA>T	9	6254555	6254567	TA	T	IL33	c.612+14del	NM_033439.4	NP_254274.1:p.?	NC_000009.11:g.6254567del	(Likely) benign	1 lab	3fdabbcbd4
14:24886055 NYNRIN G>C	14	24886055	24886055	G	C	NYNRIN	c.5100G>C	NM_025081.3	NP_079357.2:p.(Gln1700His)	NC_000014.8:g.24886055G>C	(Likely) benign	1 lab	3fde23a6f2
6:123703101 TRDN G>GCTCT	6	123703101	123703134	G	GCTCT	TRDN	c.1165+158_1165+161dup	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123703131_123703134dup	(Likely) benign	1 lab	3fdec0a74a
17:72345443 KIF19 CAG>C	17	72345443	72345445	CAG	C	KIF19	c.1169_1170del	NM_153209.4	NP_694941.2:p.(Gln390ArgfsTer9)	NC_000017.10:g.72345444_72345445del	VUS	1 lab	3fdeec41e5
10:112581363 RBM20 G>T	10	112581363	112581363	G	T	RBM20	c.2986G>T	NM_001134363.1	NP_001127835.1:p.(Asp996Tyr)	NC_000010.10:g.112581363G>T	VUS	1 lab	3fe15adcda
5:64084857 CWC27 A>G	5	64084857	64084857	A	G	CWC27	c.669+10A>G	NM_001318000.1	NP_001304929.1:p.?	NC_000005.9:g.64084857A>G	(Likely) benign	1 lab	3fe170592e
12:98995063 SLC25A3 G>A	12	98995063	98995063	G	A	SLC25A3	c.925+4G>A	NM_213611.2	NP_998776.1:p.?	NC_000012.11:g.98995063G>A	(Likely) benign	1 lab	3fe3e68ca0
14:105412755 AHNAK2 T>A	14	105412755	105412755	T	A	AHNAK2	c.9033A>T	NM_138420.3	NP_612429.2:p.(Glu3011Asp)	NC_000014.8:g.105412755T>A	(Likely) benign	1 lab	3fe4adaeee
6:143085994 HIVEP2 G>T	6	143085994	143085994	G	T	HIVEP2	c.5460C>A	NM_006734.3	NP_006725.3:p.(Thr1820=)	NC_000006.11:g.143085994G>T	(Likely) benign	1 lab	3fe4b45742
4:108853171 CYP2U1 C>T	4	108853171	108853171	C	T	CYP2U1	c.372C>T	NM_183075.2	NP_898898.1:p.(His124=)	NC_000004.11:g.108853171C>T	(Likely) benign	1 lab	3fe50d939d
8:133906103 TG C>T	8	133906103	133906103	C	T	TG	c.2930C>T	NM_003235.4	NP_003226.4:p.(Pro977Leu)	NC_000008.10:g.133906103C>T	VUS	1 lab	3fe6481dfa
12:49497472 LMBR1L T>C	12	49497472	49497472	T	C	LMBR1L	c.545A>G	NM_001300750.1	NP_001287679.1:p.(Tyr182Cys)	NC_000012.11:g.49497472T>C	VUS	1 lab	3fe6adca15
17:38792716 SMARCE1 A>T	17	38792716	38792716	A	T	SMARCE1	c.300T>A	NM_003079.4	NP_003070.3:p.(Ile100=)	NC_000017.10:g.38792716A>T	(Likely) benign	1 lab	3fe950aa3d
3:170723824 SLC2A2 C>T	3	170723824	170723824	C	T	SLC2A2	c.683G>A	NM_000340.1	NP_000331.1:p.(Arg228Gln)	NC_000003.11:g.170723824C>T	(Likely) benign	1 lab	3feaa1c314
1:235969826 LYST A>G	1	235969826	235969826	A	G	LYST	c.2610T>C	NM_001301365.1	NP_001288294.1:p.(Ser870=)	NC_000001.10:g.235969826A>G	(Likely) benign	1 lab	3fead40040
15:35083327 ACTC1 G>A	15	35083327	35083327	G	A	ACTC1	c.978C>T	NM_005159.4	NP_005150.1:p.(Thr326=)	NC_000015.9:g.35083327G>A	(Likely) benign	1 lab	3feae926a7
X:152959433 SLC6A8 GTTC>G	X	152959433	152959442	GTTC	G	SLC6A8	c.1222_1224del	NM_005629.4	NP_005620.1:p.(Phe408del)	NC_000023.10:g.152959440_152959442del	(Likely) pathogenic	1 lab	eca1b2ecbd
2:179391764 TTN A>G	2	179391764	179391764	A	G	TTN	c.107951T>C	NM_001267550.1	NP_001254479.1:p.(Val35984Ala)	NC_000002.11:g.179391764A>G	VUS	1 lab	3fec59af4c
X:148037361 AFF2 G>A	X	148037361	148037361	G	A	AFF2	c.1786G>A	NM_002025.4	NP_002016.2:p.(Ala596Thr)	NC_000023.10:g.148037361G>A	VUS	1 lab	eca1ea40ef
19:10224845 PPAN-P2RY11 G>A	19	10224845	10224845	G	A	PPAN-P2RY11	c.1816G>A	NM_001040664.2	NP_001035754.1:p.(Glu606Lys)	NC_000019.9:g.10224845G>A	(Likely) benign	1 lab	3fecc2cb8a
1:9781894 PIK3CD C>T	1	9781894	9781894	C	T	PIK3CD	c.2031C>T	NM_005026.3	NP_005017.3:p.(His677=)	NC_000001.10:g.9781894C>T	(Likely) benign	1 lab	3fed3468a3
15:48760127 FBN1 C>T	15	48760127	48760127	C	T	FBN1	c.4747+8G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48760127C>T	(Likely) benign	1 lab	3fed894c65
21:44589363 CRYAA C>T	21	44589363	44589363	C	T	CRYAA	c.154C>T	NM_000394.3	NP_000385.1:p.(Leu52Phe)	NC_000021.8:g.44589363C>T	(Likely) benign	1 lab	3feee7b71f
17:56285483 MKS1 T>C	17	56285483	56285483	T	C	MKS1	c.1148A>G	NM_017777.3	NP_060247.2:p.(His383Arg)	NC_000017.10:g.56285483T>C	(Likely) benign	1 lab	3feef46a45
16:57764910 DRC7 A>G	16	57764910	57764910	A	G	DRC7	c.2459A>G	NM_001289162.1	NP_001276091.1:p.(Asp820Gly)	NC_000016.9:g.57764910A>G	VUS	1 lab	3ff0b522d0
17:73956387 ACOX1 G>A	17	73956387	73956387	G	A	ACOX1	c.225C>T	NM_001185039.1	NP_001171968.1:p.(His75=)	NC_000017.10:g.73956387G>A	(Likely) benign	1 lab	3ff1b703ca
2:25991689 ASXL2 T>G	2	25991689	25991689	T	G	ASXL2	c.553A>C	NM_018263.5	NP_060733.4:p.(Ser185Arg)	NC_000002.11:g.25991689T>G	VUS	1 lab	3ff22452b0
18:55233787 FECH GA>G	18	55233787	55233790	GA	G	FECH	c.489del	NM_000140.5	NP_000131.2:p.(Arg164GlyfsTer6)	NC_000018.9:g.55233790del	(Likely) pathogenic	1 lab	3ff2400415
2:96260177 TRIM43 C>G	2	96260177	96260177	C	G	TRIM43	c.406C>G	NM_138800.2	NP_620155.1:p.(His136Asp)	NC_000002.11:g.96260177C>G	(Likely) benign	1 lab	3ff31eb4c5
9:101804360 COL15A1 C>T	9	101804360	101804360	C	T	COL15A1	c.2545C>T	NM_001855.5	NP_001846.3:p.(Pro849Ser)	NC_000009.11:g.101804360C>T	VUS	1 lab	3ff4223310
16:68721521 CDH3 C>T	16	68721521	68721521	C	T	CDH3	c.1677C>T	NM_001793.5	NP_001784.2:p.(Ser559=)	NC_000016.9:g.68721521C>T	(Likely) benign	1 lab	3ff424ee4c
10:17088067 CUBN A>T	10	17088067	17088067	A	T	CUBN	c.3356T>A	NM_001081.3	NP_001072.2:p.(Leu1119Ter)	NC_000010.10:g.17088067A>T	(Likely) pathogenic	1 lab	3ff46a87cf
14:105359325 CEP170B G>A	14	105359325	105359325	G	A	CEP170B	c.3891G>A	NM_001112726.3	NP_001106197.1:p.(Thr1297=)	NC_000014.8:g.105359325G>A	(Likely) benign	1 lab	3ff9f11b92
16:57691387 ADGRG1 G>A	16	57691387	57691387	G	A	ADGRG1	c.1270G>A	NM_001145772.2	NP_001139244.1:p.(Ala424Thr)	NC_000016.9:g.57691387G>A	(Likely) benign	1 lab	3ffa7ec6d5
18:29126596 DSG2 G>A	18	29126596	29126596	G	A	DSG2	c.3247G>A	NM_001943.5	NP_001934.2:p.(Gly1083Ser)	NC_000018.9:g.29126596G>A	VUS	1 lab	ecaf89fb9b
12:80730692 OTOGL G>A	12	80730692	80730692	G	A	OTOGL	c.4741G>A	NM_173591.3	NP_775862.3:p.(Ala1581Thr)	NC_000012.11:g.80730692G>A	VUS	1 lab	3ffd84093a
13:110835507 COL4A1 G>A	13	110835507	110835507	G	A	COL4A1	c.1990+24C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110835507G>A	(Likely) benign	1 lab	3ffe56af95
16:69874090 WWP2 C>G	16	69874090	69874090	C	G	WWP2	c.402C>G	NM_007014.4	NP_008945.2:p.(Gly134=)	NC_000016.9:g.69874090C>G	(Likely) benign	1 lab	3ffe6755f6
17:7123781 ACADVL A>T	17	7123781	7123781	A	T	ACADVL	c.-90-2A>T	NM_001270448.1	NP_001257377.1:p.?	NC_000017.10:g.7123781A>T	VUS	1 lab	4000a41d02
5:77406083 AP3B1 G>A	5	77406083	77406083	G	A	AP3B1	c.2198C>T	NM_001271769.1	NP_001258698.1:p.(Ser733Phe)	NC_000005.9:g.77406083G>A	VUS	1 lab	400211fe4e
2:233660866 GIGYF2 C>T	2	233660866	233660866	C	T	GIGYF2	c.1574C>T	NM_015575.3	NP_056390.2:p.(Ser525Leu)	NC_000002.11:g.233660866C>T	VUS	1 lab	4004783a5e
X:48125730 SSX1 A>AG	X	48125730	48125735	A	AG	SSX1	c.480dup	NM_001278691.1	NP_001265620.1:p.(Lys161GlufsTer10)	NC_000023.10:g.48125735dup	(Likely) pathogenic	1 lab	400784036c
5:32089991 PDZD2 C>T	5	32089991	32089991	C	T	PDZD2	c.6437C>T	NM_178140.3	NP_835260.2:p.(Ser2146Leu)	NC_000005.9:g.32089991C>T	(Likely) benign	1 lab	4009735643
17:78082340 GAA GG>C	17	78082340	78082341	GG	C	GAA	c.1128_1129delinsC	NM_000152.3	NP_000143.2:p.(Trp376CysfsTer16)	NC_000017.10:g.78082340_78082341delinsC	(Likely) pathogenic	1 lab	40098c308d
10:70209933 DNA2 C>T	10	70209933	70209933	C	T	DNA2	c.791G>A	NM_001080449.2	NP_001073918.2:p.(Ser264Asn)	NC_000010.10:g.70209933C>T	(Likely) benign	1 lab	400b59873b
9:127262444 NR5A1 CA>C	9	127262444	127262445	CA	C	NR5A1	c.794del	NM_004959.5	NP_004950.2:p.(Leu265ArgfsTer31)	NC_000009.11:g.127262445del	(Likely) pathogenic	1 lab	400b5deada
1:981814 AGRN C>G	1	981814	981814	C	G	AGRN	c.2634C>G	NM_001364727.1	NP_001351656.1:p.(Ser878=)	NC_000001.10:g.981814C>G	(Likely) benign	1 lab	400baeb48d
16:56548383 BBS2 C>T	16	56548383	56548383	C	T	BBS2	c.327G>A	NM_031885.3	NP_114091.3:p.(Ser109=)	NC_000016.9:g.56548383C>T	(Likely) benign	1 lab	400db8f257
5:1264513 TERT G>A	5	1264513	1264513	G	A	TERT	c.2843+6C>T	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1264513G>A	VUS	1 lab	400ed23647
13:114322338 GRK1 G>A	13	114322338	114322338	G	A	GRK1	c.637G>A	NM_002929.3	NP_002920.1:p.(Gly213Ser)	NC_000013.10:g.114322338G>A	VUS	1 lab	40115bea09
X:124455602 TEX13C A>G	X	124455602	124455602	A	G	TEX13C	c.1634A>G	NM_001195272.2	NP_001182201.1:p.(His545Arg)	NC_000023.10:g.124455602A>G	(Likely) benign	1 lab	4011f3f081
12:80696534 OTOGL A>T	12	80696534	80696534	A	T	OTOGL	c.3157A>T	NM_173591.3	NP_775862.3:p.(Ile1053Phe)	NC_000012.11:g.80696534A>T	VUS	1 lab	40123726cf
11:67379025 NDUFV1 C>T	11	67379025	67379025	C	T	NDUFV1	c.1065C>T	NM_007103.3	NP_009034.2:p.(Ile355=)	NC_000011.9:g.67379025C>T	(Likely) benign	1 lab	4014160be2
9:215192 DOCK8-AS1 C>G	9	215192	215192	C	G	DOCK8-AS1	c.205G>C	NM_152569.2	NP_689782.2:p.(Ala69Pro)	NC_000009.11:g.215192C>G	VUS	1 lab	401446116d
2:25990585 ASXL2 T>C	2	25990585	25990585	T	C	ASXL2	c.642A>G	NM_018263.5	NP_060733.4:p.(Glu214=)	NC_000002.11:g.25990585T>C	(Likely) benign	1 lab	401616e44c
X:47044450 RBM10 C>A	X	47044450	47044450	C	A	RBM10	c.2146-4C>A	NM_001204468.1	NP_001191397.1:p.?	NC_000023.10:g.47044450C>A	(Likely) benign	1 lab	401758b4f0
11:17580138 OTOG C>T	11	17580138	17580138	C	T	OTOG	c.1086C>T	NM_001277269.1	NP_001264198.1:p.(His362=)	NC_000011.9:g.17580138C>T	(Likely) benign	1 lab	40186d3eea
1:9795967 CLSTN1 G>A	1	9795967	9795967	G	A	CLSTN1	c.1710C>T	NM_001009566.2	NP_001009566.1:p.(Leu570=)	NC_000001.10:g.9795967G>A	(Likely) benign	1 lab	4018fc0839
7:47884663 PKD1L1 C>T	7	47884663	47884663	C	T	PKD1L1	c.5167G>A	NM_138295.4	NP_612152.1:p.(Ala1723Thr)	NC_000007.13:g.47884663C>T	(Likely) benign	1 lab	4019769efb
3:184041763 EIF4G1 G>A	3	184041763	184041763	G	A	EIF4G1	c.2473G>A	NM_182917.4	NP_886553.3:p.(Ala825Thr)	NC_000003.11:g.184041763G>A	VUS	1 lab	40198cc98d
10:97452766 TCTN3 G>A	10	97452766	97452766	G	A	TCTN3	c.410C>T	NM_015631.5	NP_056446.4:p.(Ser137Phe)	NC_000010.10:g.97452766G>A	VUS	1 lab	401a79d782
X:65252335 VSIG4 G>T	X	65252335	65252335	G	T	VSIG4	c.669C>A	NM_001184830.1	NP_001171759.1:p.(Ser223Arg)	NC_000023.10:g.65252335G>T	VUS	1 lab	401c97eb71
18:44173691 LOXHD1 C>T	18	44173691	44173691	C	T	LOXHD1	c.1303G>A	NM_144612.6	NP_653213.6:p.(Asp435Asn)	NC_000018.9:g.44173691C>T	VUS	1 lab	401d0f940f
4:524468 PIGG G>T	4	524468	524468	G	T	PIGG	c.1407G>T	NM_001345994.1	NP_001332923.1:p.(Leu469=)	NC_000004.11:g.524468G>T	(Likely) benign	1 lab	401d8fcb8d
17:29560167 NF1 T>A	17	29560167	29560167	T	A	NF1	c.3644T>A	NM_000267.3	NP_000258.1:p.(Met1215Lys)	NC_000017.10:g.29560167T>A	(Likely) pathogenic	1 lab	401e077ed3
16:3778811 CREBBP G>T	16	3778811	3778811	G	T	CREBBP	c.6237C>A	NM_004380.2	NP_004371.2:p.(Ser2079=)	NC_000016.9:g.3778811G>T	(Likely) benign	1 lab	401e54987b
8:133880375 TG C>T	8	133880375	133880375	C	T	TG	c.83C>T	NM_003235.4	NP_003226.4:p.(Ala28Val)	NC_000008.10:g.133880375C>T	(Likely) benign	1 lab	401e6ab988
22:21098924 PI4KA C>T	22	21098924	21098924	C	T	PI4KA	c.3448G>A	NM_058004.3	NP_477352.3:p.(Ala1150Thr)	NC_000022.10:g.21098924C>T	(Likely) benign	1 lab	401f2bdf39
2:209180078 PIKFYVE A>T	2	209180078	209180078	A	T	PIKFYVE	c.1988A>T	NM_015040.3	NP_055855.2:p.(Gln663Leu)	NC_000002.11:g.209180078A>T	VUS	1 lab	401fc811ac
19:53856008 ZNF845 A>G	19	53856008	53856008	A	G	ZNF845	c.2080A>G	NM_001321522.1	NP_001308451.1:p.(Asn694Asp)	NC_000019.9:g.53856008A>G	VUS	1 lab	401fd9c6ce
17:36498912 GPR179 T>C	17	36498912	36498912	T	C	GPR179	c.761A>G	NM_001004334.3	NP_001004334.3:p.(Tyr254Cys)	NC_000017.10:g.36498912T>C	VUS	1 lab	401fe674b9
8:145009386 PLEC G>A	8	145009386	145009386	G	A	PLEC	c.1109C>T	NM_201380.3	NP_958782.1:p.(Thr370Met)	NC_000008.10:g.145009386G>A	VUS	1 lab	40205cfacd
1:214454622 SMYD2 C>T	1	214454622	214454622	C	T	SMYD2	c.25C>T	NM_020197.3	NP_064582.2:p.(Leu9=)	NC_000001.10:g.214454622C>T	(Likely) benign	1 lab	4023dc15be
1:66074434 LEPR A>G	1	66074434	66074434	A	G	LEPR	c.1604-2A>G	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66074434A>G	(Likely) pathogenic	1 lab	ecb0b99eca
20:62120272 EEF1A2 G>A	20	62120272	62120272	G	A	EEF1A2	c.1263C>T	NM_001958.3	NP_001949.1:p.(Leu421=)	NC_000020.10:g.62120272G>A	(Likely) benign	1 lab	4024fc5038
1:198725202 PTPRC C>A	1	198725202	198725202	C	A	PTPRC	c.3813C>A	NM_002838.4	NP_002829.3:p.(Leu1271=)	NC_000001.10:g.198725202C>A	(Likely) benign	1 lab	40265675f4
X:100748129 ARMCX4 C>T	X	100748129	100748129	C	T	ARMCX4	c.4553C>T	NM_001256155.2	NP_001243084.2:p.(Thr1518Met)	NC_000023.10:g.100748129C>T	VUS	1 lab	402ab75c2b
X:71715040 HDAC8 A>T	X	71715040	71715040	A	T	HDAC8	c.516T>A	NM_001166419.1	NP_001159891.1:p.(Ile172=)	NC_000023.10:g.71715040A>T	(Likely) benign	1 lab	402b0db36e
19:18980171 GDF1 G>A	19	18980171	18980171	G	A	GDF1	c.354C>T	NM_001492.5	NP_001483.3:p.(Ala118=)	NC_000019.9:g.18980171G>A	(Likely) benign	1 lab	402cb686b8
X:153135518 L1CAM G>A	X	153135518	153135518	G	A	L1CAM	c.984C>T	NM_001278116.1	NP_001265045.1:p.(Thr328=)	NC_000023.10:g.153135518G>A	(Likely) benign	1 lab	402cd3a5fe
5:176965047 FAM193B G>A	5	176965047	176965047	G	A	FAM193B	c.515C>T	NM_001190946.3	NP_001177875.1:p.(Ser172Leu)	NC_000005.9:g.176965047G>A	VUS	1 lab	402d34c9a6
X:34148667 FAM47A C>T	X	34148667	34148667	C	T	FAM47A	c.1729G>A	NM_203408.3	NP_981953.2:p.(Ala577Thr)	NC_000023.10:g.34148667C>T	VUS	1 lab	402dce429d
1:158623095 SPTA1 T>A	1	158623095	158623095	T	A	SPTA1	c.3157A>T	NM_003126.3	NP_003117.2:p.(Ile1053Phe)	NC_000001.10:g.158623095T>A	VUS	1 lab	402e190f20
6:42932149 PEX6 G>A	6	42932149	42932149	G	A	PEX6	c.2867C>T	NM_000287.3	NP_000278.3:p.(Ala956Val)	NC_000006.11:g.42932149G>A	(Likely) benign	1 lab	402e449108
3:70013994 MITF A>G	3	70013994	70013994	A	G	MITF	c.1162-4A>G	NM_198159.2	NP_937802.1:p.?	NC_000003.11:g.70013994A>G	(Likely) benign	1 lab	402ed19520
16:27441399 IL21R C>T	16	27441399	27441399	C	T	IL21R	c.73C>T	NM_181079.4	NP_851565.4:p.(Arg25Cys)	NC_000016.9:g.27441399C>T	(Likely) benign	1 lab	40305a09f4
8:61121422 CA8 G>T	8	61121422	61121422	G	T	CA8	c.795C>A	NM_004056.5	NP_004047.3:p.(Gly265=)	NC_000008.10:g.61121422G>T	(Likely) benign	1 lab	40321a6459
13:101759837 NALCN C>T	13	101759837	101759837	C	T	NALCN	c.2666+1G>A	NM_001350748.1	NP_001337677.1:p.?	NC_000013.10:g.101759837C>T	(Likely) pathogenic	1 lab	4032551803
8:61732652 CHD7 A>T	8	61732652	61732652	A	T	CHD7	c.2697+3A>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61732652A>T	(Likely) pathogenic	1 lab	ecb15ff050
8:144803188 MAPK15 C>T	8	144803188	144803188	C	T	MAPK15	c.936C>T	NM_139021.3	NP_620590.2:p.(Asp312=)	NC_000008.10:g.144803188C>T	(Likely) benign	1 lab	4033372564
16:2137908 TSC2 C>G	16	2137908	2137908	C	G	TSC2	c.5034C>G	NM_000548.3	NP_000539.2:p.(Tyr1678Ter)	NC_000016.9:g.2137908C>G	(Likely) pathogenic	1 lab	40339a00d3
4:36307868 DTHD1 T>C	4	36307868	36307868	T	C	DTHD1	c.1324T>C	NM_001170700.2	NP_001164171.1:p.(Leu442=)	NC_000004.11:g.36307868T>C	(Likely) benign	1 lab	4033d6546a
11:18754161 PTPN5 C>T	11	18754161	18754161	C	T	PTPN5	c.1211G>A	NM_001278236.1	NP_001265165.1:p.(Arg404Gln)	NC_000011.9:g.18754161C>T	VUS	1 lab	40341e1dad
17:39659194 KRT13 T>C	17	39659194	39659194	T	C	KRT13	c.892A>G	NM_153490.3	NP_705694.3:p.(Thr298Ala)	NC_000017.10:g.39659194T>C	(Likely) benign	1 lab	ecb405bacd
X:128645896 SMARCA1 G>C	X	128645896	128645896	G	C	SMARCA1	c.695C>G	NM_003069.4	NP_003060.2:p.(Pro232Arg)	NC_000023.10:g.128645896G>C	VUS	1 lab	403555e270
X:50053514 CCNB3 C>T	X	50053514	50053514	C	T	CCNB3	c.2345C>T	NM_033031.2	NP_149020.2:p.(Pro782Leu)	NC_000023.10:g.50053514C>T	VUS	1 lab	4036c56c4b
10:17087048 CUBN A>C	10	17087048	17087048	A	C	CUBN	c.3630T>G	NM_001081.3	NP_001072.2:p.(Phe1210Leu)	NC_000010.10:g.17087048A>C	VUS	1 lab	4037e7c1b9
12:109623436 ACACB G>A	12	109623436	109623436	G	A	ACACB	c.1871G>A	NM_001093.3	NP_001084.3:p.(Gly624Glu)	NC_000012.11:g.109623436G>A	VUS	1 lab	403808d3cc
17:6386848 PITPNM3 C>T	17	6386848	6386848	C	T	PITPNM3	c.576G>A	NM_031220.3	NP_112497.2:p.(Ser192=)	NC_000017.10:g.6386848C>T	(Likely) benign	1 lab	403882be1b
2:166172220 SCN2A G>A	2	166172220	166172220	G	A	SCN2A	c.1623G>A	NM_021007.2	NP_066287.2:p.(Leu541=)	NC_000002.11:g.166172220G>A	VUS	1 lab	4039554249
19:46281873 DMPK G>A	19	46281873	46281873	G	A	DMPK	c.489C>T	NM_001081563.2	NP_001075032.1:p.(Gly163=)	NC_000019.9:g.46281873G>A	(Likely) benign	1 lab	403adea253
10:85965651 CDHR1 C>A	10	85965651	85965651	C	A	CDHR1	c.931C>A	NM_033100.4	NP_149091.1:p.(Leu311Ile)	NC_000010.10:g.85965651C>A	VUS	1 lab	403bdc2c70
10:23481740 PTF1A A>ACGG	10	23481740	23481756	A	ACGG	PTF1A	c.295_297dup	NM_178161.2	NP_835455.1:p.(Gly99dup)	NC_000010.10:g.23481754_23481756dup	VUS	1 lab	403c090f29
X:41069867 USP9X A>G	X	41069867	41069867	A	G	USP9X	c.5121A>G	NM_001039591.3	NP_001034680.2:p.(Pro1707=)	NC_000023.10:g.41069867A>G	(Likely) benign	1 lab	403c19dfef
1:237666629 RYR2 TTTC>T	1	237666629	237666635	TTTC	T	RYR2	c.2441_2443del	NM_001035.3	NP_001026.2:p.(Leu814del)	NC_000001.10:g.237666633_237666635del	VUS	1 lab	ecb6021254
13:103387865 LRTM3 T>C	13	103387865	103387865	T	C	LRTM3	c.15182A>G	NM_001146197.2	NP_001139669.1:p.(Glu5061Gly)	NC_000013.10:g.103387865T>C	VUS	1 lab	4043e8ef61
9:135140039 SETX G>A	9	135140039	135140039	G	A	SETX	c.7621C>T	NM_015046.5	NP_055861.3:p.(Leu2541=)	NC_000009.11:g.135140039G>A	(Likely) benign	1 lab	4044cc3125
9:80409370 GNAQ AAC>A	9	80409370	80409374	AAC	A	GNAQ	c.735+7_735+8del	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80409373_80409374del	(Likely) benign	1 lab	40472cba1d
1:11082266 TARDBP A>G	1	11082266	11082266	A	G	TARDBP	c.800A>G	NM_007375.3	NP_031401.1:p.(Asn267Ser)	NC_000001.10:g.11082266A>G	VUS	1 lab	404756d8ed
X:100747737 ARMCX4 G>A	X	100747737	100747737	G	A	ARMCX4	c.4161G>A	NM_001256155.2	NP_001243084.2:p.(Gly1387=)	NC_000023.10:g.100747737G>A	(Likely) benign	1 lab	404b482896
12:88484502 CEP290 T>C	12	88484502	88484502	T	C	CEP290	c.3573+3A>G	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88484502T>C	VUS	1 lab	404c2ecd3e
5:70858235 BDP1 G>T	5	70858235	70858235	G	T	BDP1	c.7631G>T	NM_018429.2	NP_060899.2:p.(Arg2544Ile)	NC_000005.9:g.70858235G>T	VUS	1 lab	404d5b1d30
X:63445305 ASB12 G>T	X	63445305	63445305	G	T	ASB12	c.226C>A	NM_130388.3	NP_569059.3:p.(Pro76Thr)	NC_000023.10:g.63445305G>T	VUS	1 lab	404e2f6f22
16:31391863 ITGAX C>T	16	31391863	31391863	C	T	ITGAX	c.3194C>T	NM_000887.4	NP_000878.2:p.(Ser1065Leu)	NC_000016.9:g.31391863C>T	(Likely) benign	1 lab	404f43027d
12:115110061 TBX3 G>A	12	115110061	115110061	G	A	TBX3	c.1757C>T	NM_005996.4	NP_005987.3:p.(Thr586Met)	NC_000012.11:g.115110061G>A	VUS	1 lab	ecb7b3e824
11:66460166 SPTBN2 G>A	11	66460166	66460166	G	A	SPTBN2	c.5031C>T	NM_006946.3	NP_008877.1:p.(Ala1677=)	NC_000011.9:g.66460166G>A	(Likely) benign	1 lab	405048022a
11:6555244 DNHD1 G>T	11	6555244	6555244	G	T	DNHD1	c.2839G>T	NM_144666.2	NP_653267.2:p.(Glu947Ter)	NC_000011.9:g.6555244G>T	VUS	1 lab	4053091e0e
16:88902151 GALNS C>T	16	88902151	88902151	C	T	GALNS	c.740G>A	NM_000512.4	NP_000503.1:p.(Gly247Asp)	NC_000016.9:g.88902151C>T	(Likely) pathogenic	1 lab	405406956f
16:71052084 HYDIN C>T	16	71052084	71052084	C	T	HYDIN	c.3592G>A	NM_001270974.2	NP_001257903.1:p.(Val1198Ile)	NC_000016.9:g.71052084C>T	(Likely) benign	1 lab	4054149431
12:102045167 MYBPC1 G>A	12	102045167	102045167	G	A	MYBPC1	c.1522G>A	NM_002465.3	NP_002456.2:p.(Gly508Arg)	NC_000012.11:g.102045167G>A	VUS	1 lab	405515bdc6
16:702022 WDR90 C>G	16	702022	702022	C	G	WDR90	c.1036C>G	NM_145294.5	NP_660337.3:p.(Arg346Gly)	NC_000016.9:g.702022C>G	(Likely) benign	1 lab	40553cd95d
5:14367025 TRIO C>G	5	14367025	14367025	C	G	TRIO	c.2811C>G	NM_007118.3	NP_009049.2:p.(Ala937=)	NC_000005.9:g.14367025C>G	(Likely) benign	1 lab	405558d6eb
1:43897157 SZT2 C>T	1	43897157	43897157	C	T	SZT2	c.4880C>T	NM_015284.3	NP_056099.3:p.(Thr1627Met)	NC_000001.10:g.43897157C>T	(Likely) benign	1 lab	405647e1a2
10:79737337 POLR3A C>T	10	79737337	79737337	C	T	POLR3A	c.4072G>A	NM_007055.3	NP_008986.2:p.(Gly1358Arg)	NC_000010.10:g.79737337C>T	VUS	1 lab	4058624663
X:71787883 HDAC8 T>TA	X	71787883	71787884	T	TA	HDAC8	c.296-4dup	NM_001166419.1	NP_001159891.1:p.?	NC_000023.10:g.71787884dup	(Likely) benign	1 lab	4059b5a983
5:168620517 SLIT3 A>T	5	168620517	168620517	A	T	SLIT3	c.379T>A	NM_001271946.1	NP_001258875.1:p.(Leu127Met)	NC_000005.9:g.168620517A>T	(Likely) benign	1 lab	405a4eff10
10:27687639 PTCHD3 G>A	10	27687639	27687639	G	A	PTCHD3	c.1888C>T	NM_001034842.3	NP_001030014.2:p.(Arg630Ter)	NC_000010.10:g.27687639G>A	VUS	1 lab	405b624abe
2:179433205 TTN A>G	2	179433205	179433205	A	G	TTN	c.77654T>C	NM_001267550.2	NP_001254479.2:p.(Ile25885Thr)	NC_000002.11:g.179433205A>G	VUS	1 lab	ecbc496cf0
2:86266531 POLR1A G>A	2	86266531	86266531	G	A	POLR1A	c.3795C>T	NM_015425.5	NP_056240.2:p.(Ser1265=)	NC_000002.11:g.86266531G>A	(Likely) benign	1 lab	405e298380
4:119234354 PRSS12 ACC>A	4	119234354	119234357	ACC	A	PRSS12	c.1489_1489+1del	NM_003619.4	NP_003610.2:p.?	NC_000004.11:g.119234356_119234357del	VUS	1 lab	405e3f4f2e
16:86544476 FOXF1 T>C	16	86544476	86544476	T	C	FOXF1	c.301T>C	NM_001451.2	NP_001442.2:p.(Ser101Pro)	NC_000016.9:g.86544476T>C	(Likely) pathogenic	1 lab	40604b8898
7:151864221 KMT2C T>C	7	151864221	151864221	T	C	KMT2C	c.9750+10A>G	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151864221T>C	(Likely) benign	1 lab	4060aed84b
17:29556997 NF1 G>A	17	29556997	29556997	G	A	NF1	c.2990+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556997G>A	(Likely) pathogenic	1 lab	40628b0853
1:198685816 PTPRC G>A	1	198685816	198685816	G	A	PTPRC	c.1297G>A	NM_002838.4	NP_002829.3:p.(Asp433Asn)	NC_000001.10:g.198685816G>A	(Likely) benign	1 lab	406418e9ac
10:21108455 NEBL A>C	10	21108455	21108455	A	C	NEBL	c.1963-10T>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21108455A>C	(Likely) benign	1 lab	40689febc3
8:125555509 NDUFB9 G>A	8	125555509	125555509	G	A	NDUFB9	c.283G>A	NM_005005.2	NP_004996.1:p.(Asp95Asn)	NC_000008.10:g.125555509G>A	(Likely) benign	1 lab	406a77b247
17:40345030 GHDC C>A	17	40345030	40345030	C	A	GHDC	c.281G>T	NM_001142623.1	NP_001136095.1:p.(Arg94Leu)	NC_000017.10:g.40345030C>A	VUS	1 lab	406af6dedd
14:76232548 TTLL5 T>C	14	76232548	76232548	T	C	TTLL5	c.1852T>C	NM_015072.4	NP_055887.3:p.(Tyr618His)	NC_000014.8:g.76232548T>C	VUS	1 lab	406e1ceb88
3:14199603 XPC G>A	3	14199603	14199603	G	A	XPC	c.1780C>T	NM_004628.4	NP_004619.3:p.(Arg594Cys)	NC_000003.11:g.14199603G>A	VUS	1 lab	406f6e1c8e
15:75093060 CSK C>A	15	75093060	75093060	C	A	CSK	c.595C>A	NM_004383.2	NP_004374.1:p.(Gln199Lys)	NC_000015.9:g.75093060C>A	(Likely) benign	1 lab	40704d2b86
11:76924077 MYO7A G>A	11	76924077	76924077	G	A	MYO7A	c.6435G>A	NM_000260.3	NP_000251.3:p.(Thr2145=)	NC_000011.9:g.76924077G>A	(Likely) benign	1 lab	40709ef45f
8:68066327 CSPP1 C>T	8	68066327	68066327	C	T	CSPP1	c.2116C>T	NM_001363131.1	NP_001350060.1:p.(Gln706Ter)	NC_000008.10:g.68066327C>T	(Likely) pathogenic	1 lab	4071fa1d0c
1:160124853 ATP1A4 G>T	1	160124853	160124853	G	T	ATP1A4	c.226G>T	NM_144699.3	NP_653300.2:p.(Ala76Ser)	NC_000001.10:g.160124853G>T	VUS	1 lab	4072c87045
11:17655809 OTOG C>T	11	17655809	17655809	C	T	OTOG	c.7497C>T	NM_001277269.1	NP_001264198.1:p.(Cys2499=)	NC_000011.9:g.17655809C>T	(Likely) benign	1 lab	4073226f38
16:77401401 ADAMTS18 G>T	16	77401401	77401401	G	T	ADAMTS18	c.195C>A	NM_001326358.1	NP_001313287.1:p.(Val65=)	NC_000016.9:g.77401401G>T	(Likely) benign	1 lab	40756329a7
21:47552391 COL6A2 C>T	21	47552391	47552391	C	T	COL6A2	c.2985C>T	NM_001849.3	NP_001840.3:p.(Ala995=)	NC_000021.8:g.47552391C>T	(Likely) benign	1 lab	4075e23a26
2:98128515 ANKRD36B C>T	2	98128515	98128515	C	T	ANKRD36B	c.2806G>A	NM_025190.3	NP_079466.3:p.(Val936Ile)	NC_000002.11:g.98128515C>T	(Likely) benign	1 lab	407a385a66
5:14692990 OTULIN G>A	5	14692990	14692990	G	A	OTULIN	c.892G>A	NM_138348.5	NP_612357.4:p.(Val298Met)	NC_000005.9:g.14692990G>A	VUS	1 lab	407aa963a4
7:2608628 IQCE C>T	7	2608628	2608628	C	T	IQCE	c.125C>T	NM_152558.5	NP_689771.3:p.(Ser42Leu)	NC_000007.13:g.2608628C>T	VUS	1 lab	407c9f5c03
19:30199200 C19orf12 C>T	19	30199200	30199200	C	T	C19orf12	c.121G>A	NM_031448.4	NP_113636.2:p.(Val41Ile)	NC_000019.9:g.30199200C>T	(Likely) benign	1 lab	407d529023
X:114426028 RBMXL3 G>A	X	114426028	114426028	G	A	RBMXL3	c.2024G>A	NM_001145346.1	NP_001138818.1:p.(Arg675His)	NC_000023.10:g.114426028G>A	VUS	1 lab	408006ea58
6:56484783 DST G>A	6	56484783	56484783	G	A	DST	c.4049C>T	NM_001723.5	NP_001714.1:p.(Thr1350Met)	NC_000006.11:g.56484783G>A	(Likely) benign	1 lab	4080496c05
17:29663741 NF1 C>A	17	29663741	29663741	C	A	NF1	c.6173C>A	NM_000267.3	NP_000258.1:p.(Ala2058Asp)	NC_000017.10:g.29663741C>A	(Likely) benign	1 lab	4080555357
10:67680237 CTNNA3 T>A	10	67680237	67680237	T	A	CTNNA3	c.2539A>T	NM_013266.4	NP_037398.2:p.(Met847Leu)	NC_000010.10:g.67680237T>A	VUS	1 lab	ecbd870714
15:51233901 AP4E1 A>C	15	51233901	51233901	A	C	AP4E1	c.1105A>C	NM_007347.4	NP_031373.2:p.(Thr369Pro)	NC_000015.9:g.51233901A>C	VUS	1 lab	4081cf3ea1
1:236920793 ACTN2 G>A	1	236920793	236920793	G	A	ACTN2	c.1538G>A	NM_001278344.2	NP_001265273.1:p.(Arg513His)	NC_000001.10:g.236920793G>A	VUS	1 lab	ecbe771ccc
5:94830423 SKIC3 T>G	5	94830423	94830423	T	G	SKIC3	c.3765A>C	NM_014639.3	NP_055454.1:p.(Ala1255=)	NC_000005.9:g.94830423T>G	(Likely) benign	1 lab	4084b183c6
14:93275723 GOLGA5 G>A	14	93275723	93275723	G	A	GOLGA5	c.851G>A	NM_005113.3	NP_005104.3:p.(Arg284Gln)	NC_000014.8:g.93275723G>A	(Likely) benign	1 lab	4084b57af9
22:30035163 NF2 C>T	22	30035163	30035163	C	T	NF2	c.325C>T	NM_000268.3	NP_000259.1:p.(Leu109=)	NC_000022.10:g.30035163C>T	(Likely) benign	1 lab	4086728171
17:29665051 NF1 TC>T	17	29665051	29665053	TC	T	NF1	c.6715del	NM_001042492.3	NP_001035957.1:p.(Gln2239AsnfsTer26)	NC_000017.10:g.29665053del	(Likely) pathogenic	1 lab	4087b6fb6f
12:124862783 NCOR2 C>T	12	124862783	124862783	C	T	NCOR2	c.2167G>A	NM_006312.5	NP_006303.4:p.(Ala723Thr)	NC_000012.11:g.124862783C>T	VUS	1 lab	408a72223f
22:41256682 XPNPEP3 G>T	22	41256682	41256682	G	T	XPNPEP3	c.65G>T	NM_001204827.1	NP_001191756.1:p.(Gly22Val)	NC_000022.10:g.41256682G>T	VUS	1 lab	408b61e07b
8:145007259 PLEC C>T	8	145007259	145007259	C	T	PLEC	c.1850G>A	NM_201380.3	NP_958782.1:p.(Arg617His)	NC_000008.10:g.145007259C>T	VUS	1 lab	408b66e8e3
X:148568459 IDS G>C	X	148568459	148568459	G	C	IDS	c.1177C>G	NM_000202.7	NP_000193.1:p.(Pro393Ala)	NC_000023.10:g.148568459G>C	(Likely) benign	1 lab	408ba8de53
21:47831240 PCNT C>G	21	47831240	47831240	C	G	PCNT	c.5253C>G	NM_006031.5	NP_006022.3:p.(His1751Gln)	NC_000021.8:g.47831240C>G	(Likely) benign	1 lab	408c6f6d02
22:50665175 TUBGCP6 C>T	22	50665175	50665175	C	T	TUBGCP6	c.1588G>A	NM_020461.3	NP_065194.2:p.(Glu530Lys)	NC_000022.10:g.50665175C>T	VUS	1 lab	408cb487bf
4:103451071 NFKB1 G>A	4	103451071	103451071	G	A	NFKB1	c.118G>A	NM_003998.4	NP_003989.2:p.(Ala40Thr)	NC_000004.11:g.103451071G>A	VUS	1 lab	408e22612e
12:40702947 LRRK2 C>T	12	40702947	40702947	C	T	LRRK2	c.4229C>T	NM_198578.3	NP_940980.3:p.(Thr1410Met)	NC_000012.11:g.40702947C>T	VUS	1 lab	40902f3499
15:74948134 EDC3 C>T	15	74948134	74948134	C	T	EDC3	c.760G>A	NM_001142443.2	NP_001135915.1:p.(Glu254Lys)	NC_000015.9:g.74948134C>T	(Likely) benign	1 lab	40919227cb
2:135815665 RAB3GAP1 T>C	2	135815665	135815665	T	C	RAB3GAP1	c.150+9T>C	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135815665T>C	(Likely) benign	1 lab	4092399f96
1:36564493 COL8A2 C>G	1	36564493	36564493	C	G	COL8A2	c.789G>C	NM_005202.3	NP_005193.1:p.(Arg263Ser)	NC_000001.10:g.36564493C>G	(Likely) benign	1 lab	40938da087
16:2147390 PKD1 C>G	16	2147390	2147390	C	G	PKD1	c.10335G>C	NM_001009944.2	NP_001009944.2:p.(Gly3445=)	NC_000016.9:g.2147390C>G	(Likely) benign	1 lab	4093ebba6d
X:47099715 USP11 C>T	X	47099715	47099715	C	T	USP11	c.676C>T	NM_004651.3	NP_004642.2:p.(Arg226Cys)	NC_000023.10:g.47099715C>T	VUS	1 lab	4093f5ec2d
10:68940163 CTNNA3 G>A	10	68940163	68940163	G	A	CTNNA3	c.959C>T	NM_013266.4	NP_037398.2:p.(Thr320Met)	NC_000010.10:g.68940163G>A	VUS	1 lab	ecc28b10e2
1:94508357 ABCA4 C>T	1	94508357	94508357	C	T	ABCA4	c.3288G>A	NM_000350.2	NP_000341.2:p.(Ser1096=)	NC_000001.10:g.94508357C>T	(Likely) benign	1 lab	4097b4855a
17:29662042 NF1 TTGG>CT	17	29662042	29662045	TTGG	CT	NF1	c.5936_5939delinsCT	NM_000267.3	NP_000258.1:p.(Leu1979ProfsTer8)	NC_000017.10:g.29662042_29662045delinsCT	(Likely) pathogenic	1 lab	409a624044
15:28389039 HERC2 C>G	15	28389039	28389039	C	G	HERC2	c.11398G>C	NM_004667.5	NP_004658.3:p.(Asp3800His)	NC_000015.9:g.28389039C>G	VUS	1 lab	409b8e7e6d
19:17886810 FCHO1 G>A	19	17886810	17886810	G	A	FCHO1	c.1022G>A	NM_001161357.1	NP_001154829.1:p.(Arg341His)	NC_000019.9:g.17886810G>A	(Likely) benign	1 lab	409c04426b
2:25457199 DNMT3A T>C	2	25457199	25457199	T	C	DNMT3A	c.2688A>G	NM_175629.2	NP_783328.1:p.(Pro896=)	NC_000002.11:g.25457199T>C	(Likely) benign	1 lab	40a5c871a3
1:207504450 CD55 A>C	1	207504450	207504450	A	C	CD55	c.665-3A>C	NM_001114752.2	NP_001108224.1:p.?	NC_000001.10:g.207504450A>C	(Likely) benign	1 lab	409c5c32e4
20:31374412 DNMT3B C>T	20	31374412	31374412	C	T	DNMT3B	c.411C>T	NM_006892.3	NP_008823.1:p.(Pro137=)	NC_000020.10:g.31374412C>T	(Likely) benign	1 lab	409db16d0c
5:90103553 ADGRV1 C>T	5	90103553	90103553	C	T	ADGRV1	c.14971C>T	NM_032119.4	NP_115495.3:p.(Arg4991Ter)	NC_000005.9:g.90103553C>T	(Likely) pathogenic	1 lab	409f8d9f47
16:2159062 PKD1 A>G	16	2159062	2159062	A	G	PKD1	c.6106T>C	NM_001009944.2	NP_001009944.2:p.(Leu2036=)	NC_000016.9:g.2159062A>G	(Likely) benign	1 lab	409fe94c59
21:47786755 PCNT G>A	21	47786755	47786755	G	A	PCNT	c.2866G>A	NM_006031.5	NP_006022.3:p.(Asp956Asn)	NC_000021.8:g.47786755G>A	VUS	1 lab	40a1508671
13:25480913 CPAP C>G	13	25480913	25480913	C	G	CPAP	c.1263G>C	NM_018451.4	NP_060921.3:p.(Gln421His)	NC_000013.10:g.25480913C>G	VUS	1 lab	40a227f246
1:233394148 PCNX2 C>T	1	233394148	233394148	C	T	PCNX2	c.1460G>A	NM_014801.3	NP_055616.3:p.(Arg487Gln)	NC_000001.10:g.233394148C>T	VUS	1 lab	40a3741e3f
2:26705323 OTOF G>A	2	26705323	26705323	G	A	OTOF	c.1530C>T	NM_194248.2	NP_919224.1:p.(Ile510=)	NC_000002.11:g.26705323G>A	(Likely) benign	1 lab	40a3c3fad6
4:88537261 DSPP A>T	4	88537261	88537261	A	T	DSPP	c.3447A>T	NM_014208.3	NP_055023.2:p.(Glu1149Asp)	NC_000004.11:g.88537261A>T	VUS	1 lab	40a42cc5b9
1:205027136 CNTN2 C>T	1	205027136	205027136	C	T	CNTN2	c.158C>T	NM_005076.4	NP_005067.1:p.(Thr53Met)	NC_000001.10:g.205027136C>T	(Likely) benign	1 lab	40a4d20e60
16:2546567 TBC1D24 C>G	16	2546567	2546567	C	G	TBC1D24	c.418C>G	NM_001199107.1	NP_001186036.1:p.(Leu140Val)	NC_000016.9:g.2546567C>G	VUS	1 lab	40aae7fa5e
11:73785606 C2CD3 G>C	11	73785606	73785606	G	C	C2CD3	c.4643C>G	NM_001286577.1	NP_001273506.1:p.(Ser1548Ter)	NC_000011.9:g.73785606G>C	VUS	1 lab	40ab8b5889
1:150307701 PRPF3 T>C	1	150307701	150307701	T	C	PRPF3	c.1024T>C	NM_004698.3	NP_004689.1:p.(Leu342=)	NC_000001.10:g.150307701T>C	(Likely) benign	1 lab	40ad69d8bf
X:19373556 PDHA1 G>A	X	19373556	19373556	G	A	PDHA1	c.807G>A	NM_001173454.1	NP_001166925.1:p.(Thr269=)	NC_000023.10:g.19373556G>A	(Likely) benign	1 lab	40ad8e2c53
X:153770626 IKBKG C>T	X	153770626	153770626	C	T	IKBKG	c.148C>T	NM_001099856.4	NP_001093326.2:p.(Arg50Cys)	NC_000023.10:g.153770626C>T	(Likely) benign	1 lab	40aed7ac75
2:166799813 TTC21B T>C	2	166799813	166799813	T	C	TTC21B	c.468A>G	NM_024753.4	NP_079029.3:p.(Gly156=)	NC_000002.11:g.166799813T>C	(Likely) benign	1 lab	40b05b9ba9
12:122287605 HPD A>AG	12	122287605	122287610	A	AG	HPD	c.388dup	NM_001171993.1	NP_001165464.1:p.(Leu130ProfsTer4)	NC_000012.11:g.122287610dup	(Likely) pathogenic	1 lab	40b0738ef6
18:29125764 DSG2 A>G	18	29125764	29125764	A	G	DSG2	c.2415A>G	NM_001943.3	NP_001934.2:p.(Glu805=)	NC_000018.9:g.29125764A>G	(Likely) benign	1 lab	40b224d0a4
21:34660504 IL10RB G>A	21	34660504	34660504	G	A	IL10RB				NC_000021.8:g.34660504G>A	(Likely) benign	1 lab	40b2a41591
3:52324683 GLYCTK G>A	3	52324683	52324683	G	A	GLYCTK	c.325G>A	NM_145262.3	NP_660305.2:p.(Val109Met)	NC_000003.11:g.52324683G>A	VUS	1 lab	40b365ca0c
4:15516444 CC2D2A C>T	4	15516444	15516444	C	T	CC2D2A	c.832C>T	NM_001080522.2	NP_001073991.2:p.(Arg278Trp)	NC_000004.11:g.15516444C>T	(Likely) benign	1 lab	40b423d389
8:144874418 SCRIB C>T	8	144874418	144874418	C	T	SCRIB	c.4486G>A	NM_182706.4	NP_874365.3:p.(Glu1496Lys)	NC_000008.10:g.144874418C>T	VUS	1 lab	40b59c6356
12:85680646 ALX1 C>T	12	85680646	85680646	C	T	ALX1	c.547C>T	NM_006982.2	NP_008913.2:p.(Arg183Ter)	NC_000012.11:g.85680646C>T	VUS	1 lab	40b7daebdd
17:29556170 NF1 C>A	17	29556170	29556170	C	A	NF1	c.2537C>A	NM_000267.3	NP_000258.1:p.(Ala846Asp)	NC_000017.10:g.29556170C>A	(Likely) pathogenic	1 lab	40b87c8514
8:61713063 CHD7 C>T	8	61713063	61713063	C	T	CHD7				NC_000008.10:g.61713063C>T	(Likely) benign	1 lab	40b8a3f0d5
15:55497820 RAB27A C>T	15	55497820	55497820	C	T	RAB27A	c.551G>A	NM_004580.4	NP_004571.2:p.(Arg184Gln)	NC_000015.9:g.55497820C>T	VUS	1 lab	40b9dbff7b
X:7811572 VCX C>G	X	7811572	7811572	C	G	VCX	c.136C>G	NM_013452.2	NP_038480.2:p.(Arg46Gly)	NC_000023.10:g.7811572C>G	(Likely) benign	1 lab	40d0f4e63c
2:31572651 XDH T>C	2	31572651	31572651	T	C	XDH	c.2870A>G	NM_000379.3	NP_000370.2:p.(Asn957Ser)	NC_000002.11:g.31572651T>C	(Likely) benign	1 lab	40ba6ebf1d
X:24007010 KLHL15 T>G	X	24007010	24007010	T	G	KLHL15	c.843A>C	NM_030624.2	NP_085127.2:p.(Gln281His)	NC_000023.10:g.24007010T>G	VUS	1 lab	40bb489a8e
X:1414314 CSF2RA T>C	X	1414314	1414314	T	C	CSF2RA	c.781-6T>C	NM_001161529.1	NP_001155001.1:p.?	NC_000023.10:g.1414314T>C	(Likely) benign	1 lab	40bb7fb0df
7:92143244 PEX1 A>G	7	92143244	92143244	A	G	PEX1	c.653T>C	NM_001282678.1	NP_001269607.1:p.(Met218Thr)	NC_000007.13:g.92143244A>G	VUS	1 lab	40bbdc0ac3
17:78039302 CCDC40 G>A	17	78039302	78039302	G	A	CCDC40	c.1459G>A	NM_017950.3	NP_060420.2:p.(Ala487Thr)	NC_000017.10:g.78039302G>A	(Likely) benign	1 lab	40bbf60961
14:58941315 KIAA0586 T>C	14	58941315	58941315	T	C	KIAA0586	c.2635-10T>C	NM_001329943.2	NP_001316872.1:p.?	NC_000014.8:g.58941315T>C	VUS	1 lab	40bbf957ea
13:23910304 SACS G>C	13	23910304	23910304	G	C	SACS	c.7711C>G	NM_014363.5	NP_055178.3:p.(Pro2571Ala)	NC_000013.10:g.23910304G>C	(Likely) benign	1 lab	40bc72736d
5:140594182 PCDHB13 G>A	5	140594182	140594182	G	A	PCDHB13	c.487G>A	NM_018933.3	NP_061756.1:p.(Val163Ile)	NC_000005.9:g.140594182G>A	VUS	1 lab	40bd0a7649
6:135813364 AHI1 A>G	6	135813364	135813364	A	G	AHI1	c.10+2T>C	NM_017651.5	NP_060121.3:p.?	NC_000006.11:g.135813364A>G	VUS	1 lab	ecc4e35834
17:48264116 COL1A1 G>A	17	48264116	48264116	G	A	COL1A1	c.3699C>T	NM_000088.3	NP_000079.2:p.(Thr1233=)	NC_000017.10:g.48264116G>A	(Likely) benign	1 lab	40bdf383df
17:29663932 NF1 G>T	17	29663932	29663932	G	T	NF1	c.6364G>T	NM_000267.3	NP_000258.1:p.(Glu2122Ter)	NC_000017.10:g.29663932G>T	(Likely) pathogenic	1 lab	40cdb72f62
1:228505257 OBSCN G>A	1	228505257	228505257	G	A	OBSCN	c.16525G>A	NM_001271223.2	NP_001258152.2:p.(Gly5509Ser)	NC_000001.10:g.228505257G>A	(Likely) benign	1 lab	40bf510c4c
12:7242010 MISSING G>C	12	7242010	7242010	G	C	MISSING				NC_000012.11:g.7242010G>C	(Likely) benign	1 lab	40bfa5151b
X:47082655 CDK16 A>G	X	47082655	47082655	A	G	CDK16	c.161A>G	NM_001170460.1	NP_001163931.1:p.(Asn54Ser)	NC_000023.10:g.47082655A>G	(Likely) benign	1 lab	40c1ae88fd
X:153580802 FLNA C>T	X	153580802	153580802	C	T	FLNA	c.6516G>A	NM_001110556.2	NP_001104026.1:p.(Gln2172=)	NC_000023.10:g.153580802C>T	(Likely) benign	1 lab	40c2941e1a
2:128931424 UGGT1 A>T	2	128931424	128931424	A	T	UGGT1	c.3364A>T	NM_020120.3	NP_064505.1:p.(Thr1122Ser)	NC_000002.11:g.128931424A>T	(Likely) benign	1 lab	40c37c1931
17:78091979 GAA C>T	17	78091979	78091979	C	T	GAA	c.2482-13C>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78091979C>T	(Likely) benign	1 lab	40c3f6db1f
8:10480526 RP1L1 G>A	8	10480526	10480526	G	A	RP1L1	c.186C>T	NM_178857.5	NP_849188.4:p.(Ser62=)	NC_000008.10:g.10480526G>A	(Likely) benign	1 lab	40c432f09e
15:34130687 RYR3 A>T	15	34130687	34130687	A	T	RYR3	c.12506A>T	NM_001036.4	NP_001027.3:p.(Tyr4169Phe)	NC_000015.9:g.34130687A>T	(Likely) benign	1 lab	40c4d7ec15
12:39730970 KIF21A C>T	12	39730970	39730970	C	T	KIF21A	c.2346G>A	NM_001173464.1	NP_001166935.1:p.(Glu782=)	NC_000012.11:g.39730970C>T	(Likely) benign	1 lab	40c734592f
11:119215716 C1QTNF5 T>C	11	119215716	119215716	T	C	C1QTNF5	c.-1995-2A>G	NM_015645.4	NP_056460.1:p.?	NC_000011.9:g.119215716T>C	(Likely) benign	1 lab	40c78ba3da
10:112579913 RBM20 G>A	10	112579913	112579913	G	A	RBM20	c.2634G>A	NM_001134363.1	NP_001127835.1:p.(Pro878=)	NC_000010.10:g.112579913G>A	(Likely) benign	1 lab	40c8c7e22a
16:2106771 TSC2 G>A	16	2106771	2106771	G	A	TSC2	c.774+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106771G>A	(Likely) pathogenic	1 lab	40ca7be296
11:116969019 MISSING G>A	11	116969019	116969019	G	A	MISSING				NC_000011.9:g.116969019G>A	VUS	1 lab	40cd4b1846
5:37154011 CPLANE1 T>A	5	37154011	37154011	T	A	CPLANE1	c.8042A>T	NM_023073.3	NP_075561.3:p.(Gln2681Leu)	NC_000005.9:g.37154011T>A	(Likely) benign	1 lab	40ced6753b
17:76556982 DNAH17 T>C	17	76556982	76556982	T	C	DNAH17	c.1871A>G	NM_173628.3	NP_775899.3:p.(Gln624Arg)	NC_000017.10:g.76556982T>C	(Likely) benign	1 lab	40cfa005ac
8:118834762 EXT1 G>A	8	118834762	118834762	G	A	EXT1	c.1359C>T	NM_000127.2	NP_000118.2:p.(Phe453=)	NC_000008.10:g.118834762G>A	(Likely) benign	1 lab	40d0287d46
X:129148246 BCORL1 C>T	X	129148246	129148246	C	T	BCORL1	c.1498C>T	NM_001184772.2	NP_001171701.1:p.(Arg500Cys)	NC_000023.10:g.129148246C>T	VUS	1 lab	40d3ef07c8
X:153174539 ARHGAP4 G>A	X	153174539	153174539	G	A	ARHGAP4	c.2712C>T	NM_001164741.1	NP_001158213.1:p.(His904=)	NC_000023.10:g.153174539G>A	(Likely) benign	1 lab	40d456c977
11:66466967 SPTBN2 T>C	11	66466967	66466967	T	C	SPTBN2	c.3686A>G	NM_006946.3	NP_008877.1:p.(His1229Arg)	NC_000011.9:g.66466967T>C	(Likely) benign	1 lab	40d6654660
10:48414417 GDF2 G>A	10	48414417	48414417	G	A	GDF2	c.451C>T	NM_016204.4	NP_057288.1:p.(Arg151Ter)	NC_000010.10:g.48414417G>A	VUS	1 lab	ecc72fab28
X:152960352 SLC6A8 T>TGC	X	152960352	152960353	T	TGC	SLC6A8	c.1767+8_1767+9insGC	NM_005629.3	NP_005620.1:p.?	NC_000023.10:g.152960352_152960353insGC	(Likely) benign	1 lab	40d88ae620
16:67200233 HSF4 A>G	16	67200233	67200233	A	G	HSF4	c.496A>G	NM_001040667.2	NP_001035757.1:p.(Ile166Val)	NC_000016.9:g.67200233A>G	(Likely) benign	1 lab	40d9591c38
X:129801649 ENOX2 A>G	X	129801649	129801649	A	G	ENOX2	c.849T>C	NM_182314.2	NP_872114.1:p.(Arg283=)	NC_000023.10:g.129801649A>G	(Likely) benign	1 lab	40d9a2430c
15:100657192 ADAMTS17 G>A	15	100657192	100657192	G	A	ADAMTS17	c.1748C>T	NM_139057.3	NP_620688.2:p.(Pro583Leu)	NC_000015.9:g.100657192G>A	(Likely) benign	1 lab	40da11cfaf
3:361484 CHL1 G>A	3	361484	361484	G	A	CHL1	c.25G>A	NM_006614.4	NP_006605.2:p.(Gly9Arg)	NC_000003.11:g.361484G>A	(Likely) benign	1 lab	40da3682f4
2:217347570 SMARCAL1 C>T	2	217347570	217347570	C	T	SMARCAL1	c.2735C>T	NM_014140.3	NP_054859.2:p.(Ser912Leu)	NC_000002.11:g.217347570C>T	(Likely) benign	1 lab	40dd972114
X:32827680 DMD T>A	X	32827680	32827680	T	A	DMD	c.210A>T	NM_004010.3	NP_004001.1:p.(Thr70=)	NC_000023.10:g.32827680T>A	(Likely) benign	1 lab	40ddb47536
16:58577315 CNOT1 G>GA	16	58577315	58577328	G	GA	CNOT1	c.4629dup	NM_206999.2	NP_996882.1:p.(Leu1544SerfsTer22)	NC_000016.9:g.58577328dup	(Likely) benign	1 lab	40ddb69ad9
11:93527103 MED17 T>C	11	93527103	93527103	T	C	MED17	c.775-14T>C	NM_004268.4	NP_004259.3:p.?	NC_000011.9:g.93527103T>C	(Likely) benign	1 lab	40de04e6ed
12:13061997 GPRC5A C>T	12	13061997	13061997	C	T	GPRC5A	c.814C>T	NM_003979.3	NP_003970.1:p.(Arg272Ter)	NC_000012.11:g.13061997C>T	VUS	1 lab	40de9457ef
11:17518366 USH1C G>A	11	17518366	17518366	G	A	USH1C	c.2491-6C>T	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17518366G>A	(Likely) benign	1 lab	40df5cb04c
7:2959250 CARD11 C>T	7	2959250	2959250	C	T	CARD11	c.2270-4G>A	NM_001324281.1	NP_001311210.1:p.?	NC_000007.13:g.2959250C>T	(Likely) benign	1 lab	40dfbe22aa
1:22178144 HSPG2 T>C	1	22178144	22178144	T	C	HSPG2	c.7056A>G	NM_001291860.1	NP_001278789.1:p.(Gln2352=)	NC_000001.10:g.22178144T>C	(Likely) benign	1 lab	40dfc5c8e5
2:167304168 SCN7A G>A	2	167304168	167304168	G	A	SCN7A	c.1341C>T	NM_002976.3	NP_002967.2:p.(Asp447=)	NC_000002.11:g.167304168G>A	(Likely) benign	1 lab	40e30153b0
X:110576330 DCX C>T	X	110576330	110576330	C	T	DCX	c.757G>A	NM_178153.2	NP_835366.1:p.(Gly253Ser)	NC_000023.10:g.110576330C>T	VUS	1 lab	40e31321ef
X:108684632 GUCY2F G>A	X	108684632	108684632	G	A	GUCY2F	c.1649C>T	NM_001522.2	NP_001513.2:p.(Ser550Leu)	NC_000023.10:g.108684632G>A	(Likely) benign	1 lab	40e5b34a00
11:722169 EPS8L2 C>T	11	722169	722169	C	T	EPS8L2	c.1059+4C>T	NM_022772.3	NP_073609.2:p.?	NC_000011.9:g.722169C>T	VUS	1 lab	40e62e64ed
13:32953556 BRCA2 G>T	13	32953556	32953556	G	T	BRCA2	c.8857G>T	NM_000059.3	NP_000050.2:p.(Glu2953Ter)	NC_000013.10:g.32953556G>T	(Likely) pathogenic	1 lab	40e7b1074c
2:26741960 OTOF C>T	2	26741960	26741960	C	T	OTOF	c.245G>A	NM_194248.2	NP_919224.1:p.(Arg82His)	NC_000002.11:g.26741960C>T	VUS	1 lab	40e8f59d56
15:28234776 OCA2 A>T	15	28234776	28234776	A	T	OCA2	c.1153T>A	NM_000275.2	NP_000266.2:p.(Phe385Ile)	NC_000015.9:g.28234776A>T	VUS	1 lab	40e92751de
9:73213359 TRPM3 C>T	9	73213359	73213359	C	T	TRPM3				NC_000009.11:g.73213359C>T	(Likely) benign	1 lab	40ea11dc5f
15:38591731 SPRED1 C>T	15	38591731	38591731	C	T	SPRED1	c.190C>T	NM_152594.2	NP_689807.1:p.(Arg64Ter)	NC_000015.9:g.38591731C>T	(Likely) pathogenic	1 lab	40ea7c54c8
17:41246432 BRCA1 C>T	17	41246432	41246432	C	T	BRCA1	c.1116G>A	NM_007294.3	NP_009225.1:p.(Trp372Ter)	NC_000017.10:g.41246432C>T	(Likely) pathogenic	1 lab	40ea865298
12:21036426 SLCO1B3 C>A	12	21036426	21036426	C	A	SLCO1B3	c.1572C>A	NM_019844.3	NP_062818.1:p.(Cys524Ter)	NC_000012.11:g.21036426C>A	VUS	1 lab	40eafd74fd
16:3789706 CREBBP T>G	16	3789706	3789706	T	G	CREBBP	c.4153A>C	NM_004380.2	NP_004371.2:p.(Met1385Leu)	NC_000016.9:g.3789706T>G	VUS	1 lab	40eb565cc7
22:40813034 MRTFA C>T	22	40813034	40813034	C	T	MRTFA				NC_000022.10:g.40813034C>T	VUS	1 lab	40ed498356
10:16916413 CUBN A>G	10	16916413	16916413	A	G	CUBN	c.9196T>C	NM_001081.3	NP_001072.2:p.(Tyr3066His)	NC_000010.10:g.16916413A>G	VUS	1 lab	40eebb9227
20:57473991 GNAS A>G	20	57473991	57473991	A	G	GNAS	c.213-5A>G	NM_001077488.3	NP_001070956.1:p.?	NC_000020.10:g.57473991A>G	(Likely) benign	1 lab	40f14eedb3
10:27324320 ANKRD26 C>T	10	27324320	27324320	C	T	ANKRD26	c.3059G>A	NM_014915.2	NP_055730.2:p.(Arg1020His)	NC_000010.10:g.27324320C>T	(Likely) benign	1 lab	40f1fddac2
17:80054196 FASN C>T	17	80054196	80054196	C	T	FASN	c.126G>A	NM_004104.5	NP_004095.4:p.(Ala42=)	NC_000017.10:g.80054196C>T	VUS	1 lab	40f2724b54
12:8975911 A2ML1 C>T	12	8975911	8975911	C	T	A2ML1	c.196C>T	NM_144670.5	NP_653271.2:p.(Leu66=)	NC_000012.11:g.8975911C>T	(Likely) benign	1 lab	40f3ff0e6f
1:196709787 CFH G>T	1	196709787	196709787	G	T	CFH	c.2821G>T	NM_000186.3	NP_000177.2:p.(Val941Phe)	NC_000001.10:g.196709787G>T	(Likely) benign	1 lab	40f4f52fc8
18:52969733 TCF4 T>C	18	52969733	52969733	T	C	TCF4	c.-18A>G	NM_001243236.2	NP_001230165.1:p.?	NC_000018.9:g.52969733T>C	VUS	1 lab	ecce565e03
X:153420198 OPN1LW G>T	X	153420198	153420198	G	T	OPN1LW	c.728G>T	NM_020061.5	NP_064445.2:p.(Trp243Leu)	NC_000023.10:g.153420198G>T	VUS	1 lab	40f7e62cec
20:47734412 STAU1 T>C	20	47734412	47734412	T	C	STAU1	c.1411A>G	NM_001322929.1	NP_001309858.1:p.(Ile471Val)	NC_000020.10:g.47734412T>C	(Likely) benign	1 lab	40f84c4c71
1:237955506 RYR2 C>T	1	237955506	237955506	C	T	RYR2	c.13665C>T	NM_001035.2	NP_001026.2:p.(Ile4555=)	NC_000001.10:g.237955506C>T	(Likely) benign	1 lab	40f8d99a11
17:44101505 MAPT G>C	17	44101505	44101505	G	C	MAPT	c.1294G>C	NM_005910.6	NP_005901.2:p.(Val432Leu)	NC_000017.10:g.44101505G>C	VUS	1 lab	ecd29a215a
6:73787601 KCNQ5 G>T	6	73787601	73787601	G	T	KCNQ5	c.909G>T	NM_001160133.1	NP_001153605.1:p.(Trp303Cys)	NC_000006.11:g.73787601G>T	VUS	1 lab	40fb2e21a4
8:61764657 CHD7 G>A	8	61764657	61764657	G	A	CHD7				NC_000008.10:g.61764657G>A	(Likely) benign	1 lab	40fb36cced
11:6647596 DCHS1 C>T	11	6647596	6647596	C	T	DCHS1				NC_000011.9:g.6647596C>T	(Likely) benign	1 lab	4159434783
7:19156475 TWIST1 T>G	7	19156475	19156475	T	G	TWIST1	c.470A>C	NM_000474.3	NP_000465.1:p.(Asp157Ala)	NC_000007.13:g.19156475T>G	VUS	1 lab	40fc82f83f
22:51160154 MISSING G>A	22	51160154	51160154	G	A	MISSING				NC_000022.10:g.51160154G>A	(Likely) benign	1 lab	40fd2f7ea9
X:134156245 RTL8B G>C	X	134156245	134156245	G	C	RTL8B	c.245C>G	NM_001078173.1	NP_001071641.1:p.(Pro82Arg)	NC_000023.10:g.134156245G>C	VUS	1 lab	40fd440c66
10:123276829 FGFR2 ATA>C	10	123276829	123276831	ATA	C	FGFR2	c.1084+2_1084+4delinsG	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123276829_123276831delinsC	(Likely) pathogenic	1 lab	40fdc200c3
8:61773622 CHD7 GA>G	8	61773622	61773623	GA	G	CHD7	c.7769del	NM_017780.4	NP_060250.2:p.(Asp2590ValfsTer2)	NC_000008.10:g.61773623del	(Likely) pathogenic	1 lab	40ff589da2
14:105410186 AHNAK2 C>T	14	105410186	105410186	C	T	AHNAK2	c.11602G>A	NM_138420.3	NP_612429.2:p.(Asp3868Asn)	NC_000014.8:g.105410186C>T	VUS	1 lab	4100a8c1a9
20:45353929 SLC2A10 T>C	20	45353929	45353929	T	C	SLC2A10	c.254T>C	NM_030777.3	NP_110404.1:p.(Leu85Pro)	NC_000020.10:g.45353929T>C	(Likely) pathogenic	1 lab	4102c283b6
3:142839918 CHST2 A>G	3	142839918	142839918	A	G	CHST2	c.260A>G	NM_004267.4	NP_004258.2:p.(Asn87Ser)	NC_000003.11:g.142839918A>G	(Likely) benign	1 lab	4103da08fb
2:63486469 WDPCP C>T	2	63486469	63486469	C	T	WDPCP	c.1816G>A	NM_001354044.1	NP_001340973.1:p.(Asp606Asn)	NC_000002.11:g.63486469C>T	VUS	1 lab	4103f803f7
1:227172336 COQ8A T>C	1	227172336	227172336	T	C	COQ8A	c.1486T>C	NM_020247.4	NP_064632.2:p.(Tyr496His)	NC_000001.10:g.227172336T>C	VUS	1 lab	4103fbd54c
12:133146741 FBRSL1 C>A	12	133146741	133146741	C	A	FBRSL1	c.921C>A	NM_001142641.2	NP_001136113.1:p.(Arg307=)	NC_000012.11:g.133146741C>A	(Likely) benign	1 lab	410501b1f3
13:110819534 COL4A1 A>G	13	110819534	110819534	A	G	COL4A1	c.3920T>C	NM_001845.5	NP_001836.3:p.(Met1307Thr)	NC_000013.10:g.110819534A>G	(Likely) benign	1 lab	4105218b60
12:9307414 PZP C>T	12	9307414	9307414	C	T	PZP	c.3572G>A	NM_002864.2	NP_002855.2:p.(Arg1191His)	NC_000012.11:g.9307414C>T	(Likely) benign	1 lab	4107333513
19:50783643 MYH14 G>A	19	50783643	50783643	G	A	MYH14	c.4290+3G>A	NM_001145809.1	NP_001139281.1:p.?	NC_000019.9:g.50783643G>A	(Likely) benign	1 lab	4107ff75e1
9:35546558 RUSC2 G>A	9	35546558	35546558	G	A	RUSC2	c.40G>A	NM_001135999.1	NP_001129471.1:p.(Val14Ile)	NC_000009.11:g.35546558G>A	VUS	1 lab	41083971f3
1:220325050 RAB3GAP2 C>G	1	220325050	220325050	C	G	RAB3GAP2	c.3924G>C	NM_012414.3	NP_036546.2:p.(Thr1308=)	NC_000001.10:g.220325050C>G	(Likely) benign	1 lab	410bcd0808
10:55582135 PCDH15 G>T	10	55582135	55582135	G	T	PCDH15	c.5372C>A	NM_001142763.1	NP_001136235.1:p.(Pro1791His)	NC_000010.10:g.55582135G>T	VUS	1 lab	410cabf79e
1:228560592 OBSCN A>G	1	228560592	228560592	A	G	OBSCN	c.24984A>G	NM_001271223.2	NP_001258152.2:p.(Ser8328=)	NC_000001.10:g.228560592A>G	(Likely) benign	1 lab	410d816fd2
1:228346361 GJC2 G>C	1	228346361	228346361	G	C	GJC2	c.902G>C	NM_020435.3	NP_065168.2:p.(Arg301Pro)	NC_000001.10:g.228346361G>C	VUS	1 lab	410efccbc8
12:49440421 KMT2D G>A	12	49440421	49440421	G	A	KMT2D	c.4389C>T	NM_003482.3	NP_003473.3:p.(Thr1463=)	NC_000012.11:g.49440421G>A	(Likely) benign	1 lab	410f6b860f
11:66460137 SPTBN2 C>T	11	66460137	66460137	C	T	SPTBN2	c.5060G>A	NM_006946.3	NP_008877.1:p.(Arg1687Gln)	NC_000011.9:g.66460137C>T	VUS	1 lab	411097d09e
11:111908184 DLAT G>A	11	111908184	111908184	G	A	DLAT	c.975G>A	NM_001931.4	NP_001922.2:p.(Pro325=)	NC_000011.9:g.111908184G>A	VUS	1 lab	411112fe01
8:106815365 ZFPM2 G>T	8	106815365	106815365	G	T	ZFPM2	c.3055G>T	NM_012082.3	NP_036214.2:p.(Ala1019Ser)	NC_000008.10:g.106815365G>T	(Likely) benign	1 lab	4111e2745e
1:248058947 OR2W3 G>A	1	248058947	248058947	G	A	OR2W3	c.59G>A	NM_001001957.2	NP_001001957.2:p.(Arg20Gln)	NC_000001.10:g.248058947G>A	(Likely) benign	1 lab	4113104233
11:17656442 OTOG AC>A	11	17656442	17656444	AC	A	OTOG	c.7534del	NM_001292063.2	NP_001278992.1:p.(Arg2512AlafsTer38)	NC_000011.9:g.17656444del	(Likely) pathogenic	1 lab	4113dd441b
19:17316950 MYO9B C>T	19	17316950	17316950	C	T	MYO9B	c.5246C>T	NM_001130065.1	NP_001123537.1:p.(Ala1749Val)	NC_000019.9:g.17316950C>T	(Likely) benign	1 lab	4116942302
X:155235789 IL9R G>A	X	155235789	155235789	G	A	IL9R	c.928G>A	NM_176786.1	NP_789743.2:p.(Val310Ile)	NC_000023.10:g.155235789G>A	(Likely) benign	1 lab	41183ee68a
9:123199662 CDK5RAP2 T>A	9	123199662	123199662	T	A	CDK5RAP2	c.3866A>T	NM_018249.5	NP_060719.4:p.(Asp1289Val)	NC_000009.11:g.123199662T>A	VUS	1 lab	41198312c7
16:1394064 BAIAP3 C>T	16	1394064	1394064	C	T	BAIAP3	c.1533C>T	NM_003933.4	NP_003924.2:p.(Phe511=)	NC_000016.9:g.1394064C>T	(Likely) benign	1 lab	411a4b7fbc
9:90744847 SPATA31C2 G>T	9	90744847	90744847	G	T	SPATA31C2	c.3105C>A	NM_001166137.1	NP_001159609.1:p.(Ser1035Arg)	NC_000009.11:g.90744847G>T	(Likely) benign	1 lab	411d2b5ae1
16:2134799 TSC2 TG>T	16	2134799	2134803	TG	T	TSC2	c.4493+87del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134803del	(Likely) benign	1 lab	4122035227
10:69959241 MYPN C>T	10	69959241	69959241	C	T	MYPN	c.3402C>T	NM_032578.3	NP_115967.2:p.(Asp1134=)	NC_000010.10:g.69959241C>T	(Likely) benign	1 lab	4122240348
9:112899835 PALM2AKAP2 G>A	9	112899835	112899835	G	A	PALM2AKAP2	c.2011G>A	NM_007203.4	NP_009134.1:p.(Ala671Thr)	NC_000009.11:g.112899835G>A	VUS	1 lab	412274e262
8:20077893 ATP6V1B2 C>T	8	20077893	20077893	C	T	ATP6V1B2	c.1516C>T	NM_001693.3	NP_001684.2:p.(Arg506Ter)	NC_000008.10:g.20077893C>T	(Likely) pathogenic	1 lab	4127bffee5
11:65310999 LTBP3 C>T	11	65310999	65310999	C	T	LTBP3	c.2375G>A	NM_001130144.2	NP_001123616.1:p.(Gly792Glu)	NC_000011.9:g.65310999C>T	VUS	1 lab	41299dc383
11:78380543 TENM4 G>A	11	78380543	78380543	G	A	TENM4	c.6847C>T	NM_001098816.2	NP_001092286.2:p.(Arg2283Trp)	NC_000011.9:g.78380543G>A	VUS	1 lab	412b72b3f5
4:36317960 DTHD1 GA>G	4	36317960	36317963	GA	G	DTHD1	c.2195del	NM_001170700.3	NP_001164171.2:p.(Asn732ThrfsTer21)	NC_000004.11:g.36317963del	VUS	1 lab	412e642593
X:112058784 AMOT C>T	X	112058784	112058784	C	T	AMOT	c.1194G>A	NM_001113490.1	NP_001106962.1:p.(Gln398=)	NC_000023.10:g.112058784C>T	(Likely) benign	1 lab	413051c9e2
17:76799830 USP36 A>G	17	76799830	76799830	A	G	USP36	c.2447T>C	NM_001321291.1	NP_001308220.1:p.(Phe816Ser)	NC_000017.10:g.76799830A>G	(Likely) benign	1 lab	4131a712bf
17:4800518 MINK1 G>A	17	4800518	4800518	G	A	MINK1	c.3659G>A	NM_001321236.1	NP_001308165.1:p.(Arg1220His)	NC_000017.10:g.4800518G>A	VUS	1 lab	4131efda07
16:70889072 HYDIN C>A	16	70889072	70889072	C	A	HYDIN	c.12402G>T	NM_001270974.2	NP_001257903.1:p.(Leu4134=)	NC_000016.9:g.70889072C>A	(Likely) benign	1 lab	41328e0171
11:76912556 MYO7A C>T	11	76912556	76912556	C	T	MYO7A	c.4916C>T	NM_000260.3	NP_000251.3:p.(Thr1639Met)	NC_000011.9:g.76912556C>T	VUS	1 lab	41347232a6
11:108143572 ATM A>G	11	108143572	108143572	A	G	ATM	c.3277A>G	NM_000051.3	NP_000042.3:p.(Ile1093Val)	NC_000011.9:g.108143572A>G	(Likely) benign	1 lab	41361c3fdb
17:78086531 GAA G>A	17	78086531	78086531	G	A	GAA	c.1888+21G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78086531G>A	(Likely) benign	1 lab	4136e4426b
5:112157668 APC G>C	5	112157668	112157668	G	C	APC				NC_000005.9:g.112157668G>C	VUS	1 lab	41383dc45d
1:165218792 LMX1A G>A	1	165218792	165218792	G	A	LMX1A	c.349C>T	NM_177398.4	NP_796372.1:p.(Leu117=)	NC_000001.10:g.165218792G>A	(Likely) benign	1 lab	4138922648
16:1501724 CLCN7 G>A	16	1501724	1501724	G	A	CLCN7	c.1354-7C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1501724G>A	(Likely) benign	1 lab	413c1b7814
3:191093019 CCDC50 C>T	3	191093019	191093019	C	T	CCDC50	c.617C>T	NM_178335.2	NP_848018.1:p.(Ser206Phe)	NC_000003.11:g.191093019C>T	(Likely) benign	1 lab	413c9d9cfd
3:47037049 NBEAL2 G>A	3	47037049	47037049	G	A	NBEAL2	c.1824G>A	NM_015175.2	NP_055990.1:p.(Trp608Ter)	NC_000003.11:g.47037049G>A	(Likely) pathogenic	1 lab	413ce4d376
19:37211207 ZNF567 T>C	19	37211207	37211207	T	C	ZNF567	c.1581T>C	NM_001322914.1	NP_001309843.1:p.(His527=)	NC_000019.9:g.37211207T>C	(Likely) benign	1 lab	413d24d175
3:48612940 COL7A1 C>T	3	48612940	48612940	C	T	COL7A1	c.6012G>A	NM_000094.3	NP_000085.1:p.(Leu2004=)	NC_000003.11:g.48612940C>T	(Likely) benign	1 lab	413d72fbbc
17:4046034 ZZEF1 C>T	17	4046034	4046034	C	T	ZZEF1	c.156G>A	NM_015113.4	NP_055928.3:p.(Glu52=)	NC_000017.10:g.4046034C>T	(Likely) benign	1 lab	413f541872
2:25016001 PTRHD1 G>T	2	25016001	25016001	G	T	PTRHD1	c.246C>A	NM_001013663.1	NP_001013685.1:p.(Val82=)	NC_000002.11:g.25016001G>T	(Likely) benign	1 lab	413fbe07a4
18:44104830 LOXHD1 G>A	18	44104830	44104830	G	A	LOXHD1	c.4581C>T	NM_144612.6	NP_653213.6:p.(Ile1527=)	NC_000018.9:g.44104830G>A	(Likely) benign	1 lab	4140edeb17
2:179518576 TTN G>A	2	179518576	179518576	G	A	TTN	c.38513C>T	NM_001267550.1	NP_001254479.1:p.(Pro12838Leu)	NC_000002.11:g.179518576G>A	VUS	1 lab	4141051d62
15:93545550 CHD2 A>AATG	15	93545550	93545556	A	AATG	CHD2	c.4278+7_4278+9dup	NM_001271.3	NP_001262.3:p.?	NC_000015.9:g.93545554_93545556dup	(Likely) benign	1 lab	41410d39b3
11:64514696 PYGM C>T	11	64514696	64514696	C	T	PYGM	c.2048G>A	NM_001164716.1	NP_001158188.1:p.(Arg683Gln)	NC_000011.9:g.64514696C>T	VUS	1 lab	414174bcca
10:75393732 MYOZ1 T>C	10	75393732	75393732	T	C	MYOZ1	c.594A>G	NM_021245.3	NP_067068.1:p.(Gln198=)	NC_000010.10:g.75393732T>C	(Likely) benign	1 lab	41417c21e8
20:5935823 MCM8 A>G	20	5935823	5935823	A	G	MCM8	c.412A>G	NM_001281521.1	NP_001268450.1:p.(Ile138Val)	NC_000020.10:g.5935823A>G	(Likely) benign	1 lab	414267b422
X:32466633 DMD A>G	X	32466633	32466633	A	G	DMD	c.3357T>C	NM_004010.3	NP_004001.1:p.(Thr1119=)	NC_000023.10:g.32466633A>G	(Likely) benign	1 lab	4142718575
X:15376214 VEGFD G>C	X	15376214	15376214	G	C	VEGFD	c.403C>G	NM_004469.4	NP_004460.1:p.(Pro135Ala)	NC_000023.10:g.15376214G>C	(Likely) benign	1 lab	4143ae8137
X:130218644 ARHGAP36 C>G	X	130218644	130218644	C	G	ARHGAP36	c.793C>G	NM_144967.4	NP_659404.2:p.(Arg265Gly)	NC_000023.10:g.130218644C>G	VUS	1 lab	4144d5938d
X:120094502 CT47A6 G>C	X	120094502	120094502	G	C	CT47A6	c.581C>G	NM_001080141.1	NP_001073610.1:p.(Ser194Trp)	NC_000023.10:g.120094502G>C	VUS	1 lab	41486f2338
10:112769148 SHOC2 A>G	10	112769148	112769148	A	G	SHOC2	c.1422+5A>G	NM_007373.3	NP_031399.2:p.?	NC_000010.10:g.112769148A>G	(Likely) benign	1 lab	41490552e4
X:47308868 ZNF41 C>T	X	47308868	47308868	C	T	ZNF41	c.301G>A	NM_007130.3	NP_009061.1:p.(Ala101Thr)	NC_000023.10:g.47308868C>T	(Likely) benign	1 lab	41494e85f3
17:78039322 CCDC40 G>T	17	78039322	78039322	G	T	CCDC40	c.1479G>T	NM_017950.3	NP_060420.2:p.(Arg493Ser)	NC_000017.10:g.78039322G>T	VUS	1 lab	41497e250f
8:72111638 EYA1 C>T	8	72111638	72111638	C	T	EYA1	c.1716G>A	NM_000503.5	NP_000494.2:p.(Trp572Ter)	NC_000008.10:g.72111638C>T	(Likely) pathogenic	1 lab	414a1e090d
4:26483329 CCKAR G>A	4	26483329	26483329	G	A	CCKAR	c.1218C>T	NM_000730.2	NP_000721.1:p.(Gly406=)	NC_000004.11:g.26483329G>A	(Likely) benign	1 lab	414c206d84
9:77377353 TRPM6 G>A	9	77377353	77377353	G	A	TRPM6	c.4234C>T	NM_017662.4	NP_060132.3:p.(His1412Tyr)	NC_000009.11:g.77377353G>A	(Likely) benign	1 lab	414d91bab5
17:29662163 NF1 A>T	17	29662163	29662163	A	T	NF1	c.5943+114A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29662163A>T	(Likely) benign	1 lab	414dd57162
5:37148355 CPLANE1 G>A	5	37148355	37148355	G	A	CPLANE1	c.8227C>T	NM_023073.3	NP_075561.3:p.(His2743Tyr)	NC_000005.9:g.37148355G>A	(Likely) benign	1 lab	414df8d1a1
X:108887424 ACSL4 A>G	X	108887424	108887424	A	G	ACSL4	c.1979-9T>C	NM_022977.2	NP_075266.1:p.?	NC_000023.10:g.108887424A>G	(Likely) benign	1 lab	414f3a6a7c
1:43892203 SZT2 G>A	1	43892203	43892203	G	A	SZT2	c.3208G>A	NM_001365999.1	NP_001352928.1:p.(Val1070Ile)	NC_000001.10:g.43892203G>A	(Likely) benign	1 lab	414fcb50bd
2:179456211 TTN C>G	2	179456211	179456211	C	G	TTN	c.60241G>C	NM_001267550.1	NP_001254479.1:p.(Asp20081His)	NC_000002.11:g.179456211C>G	VUS	1 lab	4150b1e838
17:18052846 MYO15A C>A	17	18052846	18052846	C	A	MYO15A	c.7164C>A	NM_016239.3	NP_057323.3:p.(Asp2388Glu)	NC_000017.10:g.18052846C>A	VUS	1 lab	4151745fae
12:54902264 NCKAP1L G>A	12	54902264	54902264	G	A	NCKAP1L	c.455G>A	NM_005337.5	NP_005328.2:p.(Arg152Gln)	NC_000012.11:g.54902264G>A	VUS	1 lab	415179419a
10:79761980 POLR3A G>A	10	79761980	79761980	G	A	POLR3A	c.2334C>T	NM_007055.3	NP_008986.2:p.(Leu778=)	NC_000010.10:g.79761980G>A	(Likely) benign	1 lab	41517f4bbe
1:237604666 RYR2 A>G	1	237604666	237604666	A	G	RYR2	c.1053A>G	NM_001035.2	NP_001026.2:p.(Thr351=)	NC_000001.10:g.237604666A>G	(Likely) benign	1 lab	4151f65b90
X:53573657 HUWE1 G>C	X	53573657	53573657	G	C	HUWE1	c.10758+8C>G	NM_031407.6	NP_113584.3:p.?	NC_000023.10:g.53573657G>C	(Likely) benign	1 lab	4151feefeb
X:153005681 ABCD1 A>G	X	153005681	153005681	A	G	ABCD1	c.1624A>G	NM_000033.3	NP_000024.2:p.(Ile542Val)	NC_000023.10:g.153005681A>G	VUS	1 lab	4152001df9
12:129180416 TMEM132C G>A	12	129180416	129180416	G	A	TMEM132C	c.1697G>A	NM_001136103.2	NP_001129575.2:p.(Arg566Gln)	NC_000012.11:g.129180416G>A	(Likely) benign	1 lab	4153af63df
15:83519982 HOMER2 T>C	15	83519982	83519982	T	C	HOMER2	c.797A>G	NM_199330.2	NP_955362.1:p.(Glu266Gly)	NC_000015.9:g.83519982T>C	(Likely) benign	1 lab	4155d608f7
17:76109301 TMC6 A>G	17	76109301	76109301	A	G	TMC6	c.2355-9T>C	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76109301A>G	(Likely) benign	1 lab	415665b6b9
17:41277305 BRCA1 GGT>G	17	41277305	41277308	GGT	G	BRCA1	c.-39_-38del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277307_41277308del	(Likely) benign	1 lab	4157bad28d
7:92765101 SAMD9L A>G	7	92765101	92765101	A	G	SAMD9L	c.184T>C	NM_152703.4	NP_689916.2:p.(Trp62Arg)	NC_000007.13:g.92765101A>G	(Likely) benign	1 lab	415b14a4de
X:66765107 AR G>A	X	66765107	66765107	G	A	AR	c.119G>A	NM_000044.4	NP_000035.2:p.(Arg40Lys)	NC_000023.10:g.66765107G>A	(Likely) benign	1 lab	415b48bcb7
22:24143129 SMARCB1 A>G	22	24143129	24143129	A	G	SMARCB1	c.363-2A>G	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24143129A>G	(Likely) pathogenic	1 lab	415bffe635
2:241676473 KIF1A G>A	2	241676473	241676473	G	A	KIF1A	c.4007+7C>T	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241676473G>A	(Likely) benign	1 lab	415c24cfdf
19:36223964 KMT2B G>A	19	36223964	36223964	G	A	KMT2B	c.6514G>A	NM_014727.2	NP_055542.1:p.(Val2172Ile)	NC_000019.9:g.36223964G>A	(Likely) benign	1 lab	415c6f9c0c
12:65637193 LEMD3 A>C	12	65637193	65637193	A	C	LEMD3	c.2331A>C	NM_014319.4	NP_055134.2:p.(Ser777=)	NC_000012.11:g.65637193A>C	(Likely) benign	1 lab	415e917110
X:12817458 PRPS2 A>G	X	12817458	12817458	A	G	PRPS2	c.255A>G	NM_001039091.2	NP_001034180.1:p.(Val85=)	NC_000023.10:g.12817458A>G	(Likely) benign	1 lab	416072b82b
X:153667436 GDI1 G>C	X	153667436	153667436	G	C	GDI1	c.338G>C	NM_001493.2	NP_001484.1:p.(Gly113Ala)	NC_000023.10:g.153667436G>C	(Likely) benign	1 lab	41662ac28d
17:44074006 MAPT G>A	17	44074006	44074006	G	A	MAPT	c.1803G>A	NM_001123066.3	NP_001116538.2:p.(Leu601=)	NC_000017.10:g.44074006G>A	(Likely) benign	1 lab	41674a66ff
19:13320305 CACNA1A G>C	19	13320305	13320305	G	C	CACNA1A	c.6365C>G	NM_023035.2	NP_075461.2:p.(Ser2122Ter)	NC_000019.9:g.13320305G>C	(Likely) benign	1 lab	41682b7096
12:31237542 DDX11 G>A	12	31237542	31237542	G	A	DDX11	c.419G>A	NM_030653.3	NP_085911.2:p.(Arg140Gln)	NC_000012.11:g.31237542G>A	VUS	1 lab	416a11239c
2:209010571 CRYGB C>T	2	209010571	209010571	C	T	CRYGB	c.179G>A	NM_005210.3	NP_005201.2:p.(Arg60His)	NC_000002.11:g.209010571C>T	VUS	1 lab	416b716cc2
X:17394056 NHS G>A	X	17394056	17394056	G	A	NHS	c.176G>A	NM_001291867.1	NP_001278796.1:p.(Arg59His)	NC_000023.10:g.17394056G>A	VUS	1 lab	416bef1521
3:44882569 KIF15 C>A	3	44882569	44882569	C	A	KIF15	c.3424C>A	NM_020242.3	NP_064627.1:p.(Pro1142Thr)	NC_000003.11:g.44882569C>A	VUS	1 lab	416c51e6b8
6:75806976 COL12A1 C>T	6	75806976	75806976	C	T	COL12A1	c.8570G>A	NM_004370.5	NP_004361.3:p.(Gly2857Glu)	NC_000006.11:g.75806976C>T	VUS	1 lab	416cc4f6c7
X:48418791 TBC1D25 G>A	X	48418791	48418791	G	A	TBC1D25	c.1321G>A	NM_001348265.1	NP_001335194.1:p.(Gly441Arg)	NC_000023.10:g.48418791G>A	VUS	1 lab	416d0c00f4
12:6575382 VAMP1 T>C	12	6575382	6575382	T	C	VAMP1	c.129+9A>G	NM_199245.2	NP_954740.1:p.?	NC_000012.11:g.6575382T>C	(Likely) benign	1 lab	416f9ef6a7
13:77575074 CLN5 T>TATCA	13	77575074	77575078	T	TATCA	CLN5	c.1195_1198dup	NM_006493.2	NP_006484.1:p.(Arg400AsnfsTer131)	NC_000013.10:g.77575075_77575078dup	VUS	1 lab	416fbe7be5
14:23862925 MYH6 C>T	14	23862925	23862925	C	T	MYH6	c.2878G>A	NM_002471.3	NP_002462.2:p.(Glu960Lys)	NC_000014.8:g.23862925C>T	VUS	1 lab	41706dece5
15:28273007 OCA2 G>C	15	28273007	28273007	G	C	OCA2	c.515+10C>G	NM_000275.2	NP_000266.2:p.?	NC_000015.9:g.28273007G>C	(Likely) benign	1 lab	41727fb798
13:32929071 BRCA2 CATTTGTATGA>C	13	32929071	32929082	CATTTGTATGA	C	BRCA2	c.7083_7092del	NM_000059.4	NP_000050.3:p.(Leu2362IlefsTer2)	NC_000013.10:g.32929073_32929082del	(Likely) pathogenic	1 lab	4172ed1682
2:170097835 LRP2 C>T	2	170097835	170097835	C	T	LRP2	c.3708G>A	NM_004525.3	NP_004516.2:p.(Gln1236=)	NC_000002.11:g.170097835C>T	(Likely) benign	1 lab	41735f6d74
14:102514917 DYNC1H1 G>A	14	102514917	102514917	G	A	DYNC1H1	c.13283G>A	NM_001376.4	NP_001367.2:p.(Arg4428His)	NC_000014.8:g.102514917G>A	(Likely) benign	1 lab	4173a167e2
9:135150818 SETX T>C	9	135150818	135150818	T	C	SETX	c.6936-11A>G	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135150818T>C	(Likely) benign	1 lab	417431674f
2:173344474 ITGA6 A>G	2	173344474	173344474	A	G	ITGA6	c.1487+7A>G	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173344474A>G	(Likely) benign	1 lab	ecdaaf4907
15:52471964 GNB5 C>G	15	52471964	52471964	C	G	GNB5	c.238+1G>C	NM_016194.3	NP_057278.2:p.?	NC_000015.9:g.52471964C>G	(Likely) pathogenic	1 lab	4175142ed5
20:33030043 ITCH A>G	20	33030043	33030043	A	G	ITCH	c.1023A>G	NM_001324197.1	NP_001311126.1:p.(Arg341=)	NC_000020.10:g.33030043A>G	(Likely) benign	1 lab	4176cee3f9
17:56296858 MKS1 A>T	17	56296858	56296858	A	T	MKS1	c.15T>A	NM_001165927.1	NP_001159399.1:p.(Val5=)	NC_000017.10:g.56296858A>T	(Likely) benign	1 lab	41782f3eaa
3:122630348 SEMA5B G>T	3	122630348	122630348	G	T	SEMA5B	c.3081C>A	NM_001256346.1	NP_001243275.1:p.(Thr1027=)	NC_000003.11:g.122630348G>T	(Likely) benign	1 lab	41786f90cf
16:67681853 CARMIL2 G>A	16	67681853	67681853	G	A	CARMIL2	c.1063G>A	NM_001013838.2	NP_001013860.1:p.(Asp355Asn)	NC_000016.9:g.67681853G>A	VUS	1 lab	4178f8e06c
18:21761220 OSBPL1A T>C	18	21761220	21761220	T	C	OSBPL1A	c.1701A>G	NM_080597.3	NP_542164.2:p.(Pro567=)	NC_000018.9:g.21761220T>C	(Likely) benign	1 lab	417ada8135
X:24382501 SUPT20HL1 G>GCTGCTCCTGCTC	X	24382501	24382523	G	GCTGCTCCTGCTC	SUPT20HL1	c.1713_1724dup	NM_001136234.2	NP_001129706.2:p.(Pro572_Ala575dup)	NC_000023.10:g.24382512_24382523dup	(Likely) benign	1 lab	417af9a17e
5:127610332 FBN2 G>C	5	127610332	127610332	G	C	FBN2	c.7638C>G	NM_001999.3	NP_001990.2:p.(Leu2546=)	NC_000005.9:g.127610332G>C	(Likely) benign	1 lab	417c4556d3
18:13885438 MC2R G>C	18	13885438	13885438	G	C	MC2R	c.80C>G	NM_001291911.1	NP_001278840.1:p.(Pro27Arg)	NC_000018.9:g.13885438G>C	(Likely) benign	1 lab	417c6ed86c
5:180429754 BTNL3 G>A	5	180429754	180429754	G	A	BTNL3	c.756G>A	NM_197975.2	NP_932079.1:p.(Met252Ile)	NC_000005.9:g.180429754G>A	(Likely) benign	1 lab	417d24e280
6:76542573 MYO6 C>A	6	76542573	76542573	C	A	MYO6	c.406C>A	NM_004999.3	NP_004990.3:p.(Arg136=)	NC_000006.11:g.76542573C>A	(Likely) benign	1 lab	417d3ca961
6:32821130 TAP1 G>A	6	32821130	32821130	G	A	TAP1	c.464C>T	NM_000593.5	NP_000584.2:p.(Ala155Val)	NC_000006.11:g.32821130G>A	(Likely) benign	1 lab	417d9a26b1
16:53652998 RPGRIP1L C>T	16	53652998	53652998	C	T	RPGRIP1L	c.3555G>A	NM_015272.4	NP_056087.2:p.(Glu1185=)	NC_000016.9:g.53652998C>T	(Likely) benign	1 lab	417f84d8be
14:20943407 PNP T>G	14	20943407	20943407	T	G	PNP	c.648T>G	NM_000270.3	NP_000261.2:p.(Ala216=)	NC_000014.8:g.20943407T>G	VUS	1 lab	417fa0b9e0
11:18330524 HPS5 G>A	11	18330524	18330524	G	A	HPS5	c.580C>T	NM_181507.1	NP_852608.1:p.(Leu194Phe)	NC_000011.9:g.18330524G>A	(Likely) benign	1 lab	417fbe4a6c
X:13785337 OFD1 G>T	X	13785337	13785337	G	T	OFD1	c.2271G>T	NM_001330210.1	NP_001317139.1:p.(Arg757Ser)	NC_000023.10:g.13785337G>T	(Likely) benign	1 lab	41822f4303
1:65332750 JAK1 C>T	1	65332750	65332750	C	T	JAK1	c.789G>A	NM_001321853.1	NP_001308782.1:p.(Thr263=)	NC_000001.10:g.65332750C>T	(Likely) benign	1 lab	418284f697
X:11206890 ARHGAP6 C>T	X	11206890	11206890	C	T	ARHGAP6	c.1035G>A	NM_013427.2	NP_038286.2:p.(Thr345=)	NC_000023.10:g.11206890C>T	(Likely) benign	1 lab	4182ed69ac
X:152958780 SLC6A8 A>C	X	152958780	152958780	A	C	SLC6A8	c.975A>C	NM_005629.3	NP_005620.1:p.(Thr325=)	NC_000023.10:g.152958780A>C	(Likely) benign	1 lab	4184338e1b
16:57918283 CNGB1 T>C	16	57918283	57918283	T	C	CNGB1	c.3541A>G	NM_001297.4	NP_001288.3:p.(Thr1181Ala)	NC_000016.9:g.57918283T>C	(Likely) benign	1 lab	4184fd6949
5:169496199 DOCK2 A>G	5	169496199	169496199	A	G	DOCK2	c.4703A>G	NM_004946.3	NP_004937.1:p.(His1568Arg)	NC_000005.9:g.169496199A>G	(Likely) benign	1 lab	4186a3520b
19:37211569 ZNF567 A>G	19	37211569	37211569	A	G	ZNF567	c.1943A>G	NM_001322914.1	NP_001309843.1:p.(Ter648=)	NC_000019.9:g.37211569A>G	(Likely) benign	1 lab	41872eb296
6:152464785 SYNE1 C>T	6	152464785	152464785	C	T	SYNE1	c.25092G>A	NM_182961.3	NP_892006.3:p.(Pro8364=)	NC_000006.11:g.152464785C>T	(Likely) benign	1 lab	418762e2c8
17:29497020 NF1 G>A	17	29497020	29497020	G	A	NF1	c.586+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29497020G>A	(Likely) pathogenic	1 lab	4188532519
12:57572217 LRP1 G>A	12	57572217	57572217	G	A	LRP1	c.4437G>A	NM_002332.2	NP_002323.2:p.(Ser1479=)	NC_000012.11:g.57572217G>A	(Likely) benign	1 lab	418a84dc00
16:30100038 TBX6 G>A	16	30100038	30100038	G	A	TBX6	c.744C>T	NM_004608.3	NP_004599.2:p.(Ser248=)	NC_000016.9:g.30100038G>A	(Likely) benign	1 lab	418a91cecb
14:91779979 CCDC88C C>T	14	91779979	91779979	C	T	CCDC88C	c.2181G>A	NM_001080414.3	NP_001073883.2:p.(Glu727=)	NC_000014.8:g.91779979C>T	(Likely) benign	1 lab	418b0d9b1f
15:81598492 IL16 G>A	15	81598492	81598492	G	A	IL16	c.3664G>A	NM_001172128.1	NP_001165599.1:p.(Val1222Ile)	NC_000015.9:g.81598492G>A	(Likely) benign	1 lab	418b8060a9
20:271225 C20orf96 T>TA	20	271225	271226	T	TA	C20orf96	c.17+2dup	NM_080571.1	NP_542138.1:p.?	NC_000020.10:g.271226dup	(Likely) benign	1 lab	418d26f9fc
5:176003137 CDHR2 C>T	5	176003137	176003137	C	T	CDHR2	c.1145C>T	NM_001171976.1	NP_001165447.1:p.(Pro382Leu)	NC_000005.9:g.176003137C>T	VUS	1 lab	418d3a2272
5:127873129 FBN2 G>A	5	127873129	127873129	G	A	FBN2	c.168C>T	NM_001999.3	NP_001990.2:p.(Gly56=)	NC_000005.9:g.127873129G>A	VUS	1 lab	418d7844b6
14:23852468 MYH6 T>C	14	23852468	23852468	T	C	MYH6	c.5627A>G	NM_002471.3	NP_002462.2:p.(Lys1876Arg)	NC_000014.8:g.23852468T>C	VUS	1 lab	418e8a5fdd
17:8790857 PIK3R5 G>C	17	8790857	8790857	G	C	PIK3R5	c.602C>G	NM_001251851.1	NP_001238780.1:p.(Pro201Arg)	NC_000017.10:g.8790857G>C	VUS	1 lab	418ea259c2
13:32914710 BRCA2 T>C	13	32914710	32914710	T	C	BRCA2	c.6218T>C	NM_000059.3	NP_000050.2:p.(Leu2073Ser)	NC_000013.10:g.32914710T>C	VUS	1 lab	418f8671a9
2:152551039 NEB G>A	2	152551039	152551039	G	A	NEB	c.1779C>T	NM_001271208.1	NP_001258137.1:p.(Ser593=)	NC_000002.11:g.152551039G>A	(Likely) benign	1 lab	41914dc812
X:133511773 PHF6 C>T	X	133511773	133511773	C	T	PHF6	c.126C>T	NM_032458.2	NP_115834.1:p.(His42=)	NC_000023.10:g.133511773C>T	(Likely) benign	1 lab	419173d089
10:89692847 PTEN T>C	10	89692847	89692847	T	C	PTEN	c.331T>C	NM_000314.4	NP_000305.3:p.(Trp111Arg)	NC_000010.10:g.89692847T>C	VUS	1 lab	419433d5fd
11:6639000 TPP1 G>T	11	6639000	6639000	G	T	TPP1	c.237C>A	NM_000391.3	NP_000382.3:p.(Tyr79Ter)	NC_000011.9:g.6639000G>T	(Likely) pathogenic	1 lab	41947dea39
4:958972 DGKQ C>T	4	958972	958972	C	T	DGKQ	c.1726G>A	NM_001347.4	NP_001338.2:p.(Asp576Asn)	NC_000004.11:g.958972C>T	(Likely) benign	1 lab	419644e849
X:153696729 PLXNA3 G>A	X	153696729	153696729	G	A	PLXNA3	c.4047G>A	NM_017514.4	NP_059984.3:p.(Thr1349=)	NC_000023.10:g.153696729G>A	(Likely) benign	1 lab	4197a294bb
1:151535063 TUFT1 G>A	1	151535063	151535063	G	A	TUFT1	c.195G>A	NM_001301317.1	NP_001288246.1:p.(Ala65=)	NC_000001.10:g.151535063G>A	VUS	1 lab	4198275ff6
5:137520023 KIF20A A>G	5	137520023	137520023	A	G	KIF20A	c.1448A>G	NM_005733.3	NP_005724.1:p.(Asn483Ser)	NC_000005.9:g.137520023A>G	VUS	1 lab	4198e2c81c
1:9770517 PIK3CD C>A	1	9770517	9770517	C	A	PIK3CD	c.4C>A	NM_005026.5	NP_005017.3:p.(Pro2Thr)	NC_000001.10:g.9770517C>A	(Likely) benign	1 lab	ece8ca5c85
X:107911715 COL4A5 A>T	X	107911715	107911715	A	T	COL4A5	c.3771A>T	NM_033380.2	NP_203699.1:p.(Gln1257His)	NC_000023.10:g.107911715A>T	(Likely) benign	1 lab	419de2b72f
14:68196010 RDH12 T>A	14	68196010	68196010	T	A	RDH12	c.761T>A	NM_152443.2	NP_689656.2:p.(Phe254Tyr)	NC_000014.8:g.68196010T>A	VUS	1 lab	419df43876
12:112036695 ATXN2 G>T	12	112036695	112036695	G	T	ATXN2	c.624C>A	NM_002973.3	NP_002964.3:p.(Pro208=)	NC_000012.11:g.112036695G>T	(Likely) benign	1 lab	419e9b3796
8:145640618 SLC39A4 C>T	8	145640618	145640618	C	T	SLC39A4	c.585G>A	NM_017767.2	NP_060237.2:p.(Thr195=)	NC_000008.10:g.145640618C>T	(Likely) benign	1 lab	419efe33c4
8:145621868 CPSF1 G>A	8	145621868	145621868	G	A	CPSF1	c.2771C>T	NM_013291.3	NP_037423.2:p.(Ala924Val)	NC_000008.10:g.145621868G>A	VUS	1 lab	41a017cd84
X:63488718 MTMR8 C>A	X	63488718	63488718	C	A	MTMR8	c.1814G>T	NM_017677.3	NP_060147.2:p.(Gly605Val)	NC_000023.10:g.63488718C>A	(Likely) benign	1 lab	41a0983701
19:7535079 ARHGEF18 C>T	19	7535079	7535079	C	T	ARHGEF18	c.3981C>T	NM_001367823.1	NP_001354752.1:p.(Ala1327=)	NC_000019.9:g.7535079C>T	(Likely) benign	1 lab	41a13df667
11:18320483 HPS5 C>A	11	18320483	18320483	C	A	HPS5	c.1020G>T	NM_181507.1	NP_852608.1:p.(Leu340Phe)	NC_000011.9:g.18320483C>A	VUS	1 lab	41a1c2e376
X:73812716 RLIM C>T	X	73812716	73812716	C	T	RLIM	c.434G>A	NM_183353.2	NP_899196.1:p.(Arg145His)	NC_000023.10:g.73812716C>T	VUS	1 lab	41a2425caa
5:54522483 MCIDAS A>C	5	54522483	54522483	A	C	MCIDAS	c.230T>G	NM_001190787.1	NP_001177716.1:p.(Ile77Arg)	NC_000005.9:g.54522483A>C	VUS	1 lab	41a2552889
11:76833764 CAPN5 C>A	11	76833764	76833764	C	A	CAPN5	c.1740+6C>A	NM_004055.4	NP_004046.2:p.?	NC_000011.9:g.76833764C>A	(Likely) benign	1 lab	41a2ba0af8
4:126241240 FAT4 A>G	4	126241240	126241240	A	G	FAT4	c.3674A>G	NM_001291303.1	NP_001278232.1:p.(Asn1225Ser)	NC_000004.11:g.126241240A>G	(Likely) benign	1 lab	41a3385a3d
8:48874177 MCM4 G>C	8	48874177	48874177	G	C	MCM4	c.172G>C	NM_005914.4	NP_005905.2:p.(Asp58His)	NC_000008.10:g.48874177G>C	VUS	1 lab	41a3c93d70
10:92678687 ANKRD1 C>A	10	92678687	92678687	C	A	ANKRD1	c.388G>T	NM_014391.2	NP_055206.2:p.(Glu130Ter)	NC_000010.10:g.92678687C>A	VUS	1 lab	41a45302c1
3:58183676 DNASE1L3 G>A	3	58183676	58183676	G	A	DNASE1L3	c.576C>T	NM_004944.3	NP_004935.1:p.(Ala192=)	NC_000003.11:g.58183676G>A	(Likely) benign	1 lab	41a709d0dc
16:2111987 TSC2 A>T	16	2111987	2111987	A	T	TSC2	c.1235A>T	NM_000548.3	NP_000539.2:p.(Glu412Val)	NC_000016.9:g.2111987A>T	(Likely) pathogenic	1 lab	41a7726fa1
X:153051392 IDH3G A>G	X	153051392	153051392	A	G	IDH3G	c.1117T>C	NM_004135.4	NP_004126.1:p.(Ser373Pro)	NC_000023.10:g.153051392A>G	VUS	1 lab	41a8776bad
14:105417120 AHNAK2 T>C	14	105417120	105417120	T	C	AHNAK2	c.4668A>G	NM_138420.3	NP_612429.2:p.(Gln1556=)	NC_000014.8:g.105417120T>C	VUS	1 lab	41ac5cf262
X:72673494 CDX4 G>C	X	72673494	72673494	G	C	CDX4	c.644G>C	NM_005193.1	NP_005184.1:p.(Arg215Thr)	NC_000023.10:g.72673494G>C	VUS	1 lab	41af6b103f
18:50683781 DCC G>A	18	50683781	50683781	G	A	DCC	c.1317G>A	NM_005215.3	NP_005206.2:p.(Leu439=)	NC_000018.9:g.50683781G>A	(Likely) benign	1 lab	41b26010d2
10:70749007 KIFBP A>G	10	70749007	70749007	A	G	KIFBP	c.419A>G	NM_015634.3	NP_056449.1:p.(Gln140Arg)	NC_000010.10:g.70749007A>G	VUS	1 lab	41b44f5875
3:48608106 COL7A1 C>T	3	48608106	48608106	C	T	COL7A1	c.7310G>A	NM_000094.4	NP_000085.1:p.(Gly2437Glu)	NC_000003.11:g.48608106C>T	(Likely) pathogenic	1 lab	ecedb70d60
2:5833085 SOX11 G>C	2	5833085	5833085	G	C	SOX11	c.232G>C	NM_003108.4	NP_003099.1:p.(Glu78Gln)	NC_000002.11:g.5833085G>C	VUS	1 lab	ecedc829d2
1:245006492 COX20 T>TAGAAA	1	245006492	245006497	T	TAGAAA	COX20	c.*18_*19insAAGAA	NM_198076.6	NP_932342.1:p.?	NC_000001.10:g.245006496_245006497insAAGAA	(Likely) benign	1 lab	eceee3b65d
10:72357915 PRF1 T>C	10	72357915	72357915	T	C	PRF1	c.1562A>G	NM_001083116.1	NP_001076585.1:p.(Tyr521Cys)	NC_000010.10:g.72357915T>C	VUS	1 lab	41b5e609c1
4:79176465 FRAS1 G>T	4	79176465	79176465	G	T	FRAS1	c.539G>T	NM_025074.7	NP_079350.5:p.(Cys180Phe)	NC_000004.11:g.79176465G>T	VUS	1 lab	41b63785bf
19:49995040 RPL13A G>C	19	49995040	49995040	G	C	RPL13A	c.580G>C	NM_012423.4	NP_036555.1:p.(Glu194Gln)	NC_000019.9:g.49995040G>C	(Likely) benign	1 lab	41b7457075
6:56475237 DST C>G	6	56475237	56475237	C	G	DST	c.5172G>C	NM_001144769.2	NP_001138241.1:p.(Lys1724Asn)	NC_000006.11:g.56475237C>G	VUS	1 lab	41b8ef219a
11:6412886 SMPD1 T>C	11	6412886	6412886	T	C	SMPD1	c.591T>C	NM_001318087.1	NP_001305016.1:p.(Gly197=)	NC_000011.9:g.6412886T>C	(Likely) benign	1 lab	41b9766534
1:12012678 PLOD1 A>G	1	12012678	12012678	A	G	PLOD1	c.467-2A>G	NM_000302.3	NP_000293.2:p.?	NC_000001.10:g.12012678A>G	VUS	1 lab	41ba0f5251
19:9070941 MUC16 G>C	19	9070941	9070941	G	C	MUC16	c.16505C>G	NM_024690.2	NP_078966.2:p.(Thr5502Arg)	NC_000019.9:g.9070941G>C	(Likely) benign	1 lab	41ba59a6f3
6:111621299 REV3L G>C	6	111621299	111621299	G	C	REV3L	c.9079C>G	NM_001286431.2	NP_001273360.1:p.(Pro3027Ala)	NC_000006.11:g.111621299G>C	VUS	1 lab	ecf197e96d
7:92078101 GATAD1 C>G	7	92078101	92078101	C	G	GATAD1	c.285C>G	NM_021167.4	NP_066990.3:p.(Leu95=)	NC_000007.13:g.92078101C>G	(Likely) benign	1 lab	41bb584e30
1:19208293 ALDH4A1 G>C	1	19208293	19208293	G	C	ALDH4A1	c.587C>G	NM_001161504.1	NP_001154976.1:p.(Pro196Arg)	NC_000001.10:g.19208293G>C	VUS	1 lab	41bcbec55c
13:108863385 LIG4 CTCTT>C	13	108863385	108863392	CTCTT	C	LIG4	c.228_231del	NM_002312.3	NP_002303.2:p.(Arg79TrpfsTer31)	NC_000013.10:g.108863389_108863392del	(Likely) pathogenic	1 lab	ecf43413b9
1:186135931 HMCN1 C>T	1	186135931	186135931	C	T	HMCN1	c.15440-9C>T	NM_031935.2	NP_114141.2:p.?	NC_000001.10:g.186135931C>T	(Likely) benign	1 lab	41bda02995
20:3215268 SLC4A11 C>T	20	3215268	3215268	C	T	SLC4A11	c.371-5G>A	NM_001174090.1	NP_001167561.1:p.?	NC_000020.10:g.3215268C>T	VUS	1 lab	41c0172a9a
2:26624883 DRC1 C>T	2	26624883	26624883	C	T	DRC1	c.26C>T	NM_145038.4	NP_659475.2:p.(Ala9Val)	NC_000002.11:g.26624883C>T	(Likely) benign	1 lab	41c145415b
20:3218307 SLC4A11 G>A	20	3218307	3218307	G	A	SLC4A11	c.19C>T	NM_032034.3	NP_114423.1:p.(Arg7Trp)	NC_000020.10:g.3218307G>A	(Likely) benign	1 lab	41c2da3ee0
11:68183878 LRP5 C>T	11	68183878	68183878	C	T	LRP5	c.1167C>T	NM_001291902.1	NP_001278831.1:p.(Ile389=)	NC_000011.9:g.68183878C>T	(Likely) benign	1 lab	41c33b76af
3:49569555 DAG1 C>T	3	49569555	49569555	C	T	DAG1	c.1611C>T	NM_001165928.3	NP_001159400.2:p.(Thr537=)	NC_000003.11:g.49569555C>T	(Likely) benign	1 lab	41c3efe33c
18:50994265 DCC T>C	18	50994265	50994265	T	C	DCC	c.3621T>C	NM_005215.3	NP_005206.2:p.(Gly1207=)	NC_000018.9:g.50994265T>C	(Likely) benign	1 lab	41d226d253
3:25824868 NGLY1 G>A	3	25824868	25824868	G	A	NGLY1	c.14C>T	NM_018297.4	NP_060767.2:p.(Ala5Val)	NC_000003.11:g.25824868G>A	(Likely) benign	1 lab	41c50d90d9
17:42992568 GFAP G>A	17	42992568	42992568	G	A	GFAP	c.287C>T	NM_002055.4	NP_002046.1:p.(Ala96Val)	NC_000017.10:g.42992568G>A	(Likely) benign	1 lab	41c5f6acb4
6:10410556 TFAP2A C>CG	6	10410556	10410557	C	CG	TFAP2A	c.39dup	NM_001032280.2	NP_001027451.1:p.(Gly14ArgfsTer149)	NC_000006.11:g.10410557dup	(Likely) pathogenic	1 lab	41cc793201
18:56606756 ZNF532 T>C	18	56606756	56606756	T	C	ZNF532	c.2608T>C	NM_018181.5	NP_060651.2:p.(Tyr870His)	NC_000018.9:g.56606756T>C	VUS	1 lab	41cce3633d
20:57009735 VAPB A>G	20	57009735	57009735	A	G	VAPB	c.289A>G	NM_004738.4	NP_004729.1:p.(Thr97Ala)	NC_000020.10:g.57009735A>G	VUS	1 lab	41ccf1f9f2
12:133236099 POLE G>C	12	133236099	133236099	G	C	POLE	c.3061-4C>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133236099G>C	(Likely) benign	1 lab	ecf7c5e0bd
16:51175596 SALL1 G>A	16	51175596	51175596	G	A	SALL1	c.246C>T	NM_001127892.1	NP_001121364.1:p.(Leu82=)	NC_000016.9:g.51175596G>A	(Likely) benign	1 lab	41d015ae4b
X:32328249 DMD G>A	X	32328249	32328249	G	A	DMD	c.6067C>T	NM_004006.3	NP_003997.2:p.(Leu2023Phe)	NC_000023.10:g.32328249G>A	VUS	1 lab	ecfa27e3bf
20:33588193 MYH7B G>A	20	33588193	33588193	G	A	MYH7B	c.5005G>A	NM_020884.4	NP_065935.3:p.(Gly1669Ser)	NC_000020.10:g.33588193G>A	(Likely) benign	1 lab	41d4e2dfea
19:8996403 MUC16 C>G	19	8996403	8996403	C	G	MUC16	c.41169G>C	NM_024690.2	NP_078966.2:p.(Leu13723=)	NC_000019.9:g.8996403C>G	(Likely) benign	1 lab	41d6d09ee4
6:152642480 SYNE1 T>G	6	152642480	152642480	T	G	SYNE1	c.16129A>C	NM_182961.3	NP_892006.3:p.(Met5377Leu)	NC_000006.11:g.152642480T>G	(Likely) benign	1 lab	41d74a5b38
13:113679077 MISSING G>A	13	113679077	113679077	G	A	MISSING				NC_000013.10:g.113679077G>A	(Likely) benign	1 lab	41d8c1a920
10:72358574 PRF1 C>T	10	72358574	72358574	C	T	PRF1	c.903G>A	NM_001083116.1	NP_001076585.1:p.(Ser301=)	NC_000010.10:g.72358574C>T	(Likely) benign	1 lab	41d8d41947
1:12398365 VPS13D A>G	1	12398365	12398365	A	G	VPS13D	c.8626+3A>G	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12398365A>G	VUS	1 lab	41db8631af
12:112888323 PTPN11 A>T	12	112888323	112888323	A	T	PTPN11	c.332+7A>T	NM_002834.3	NP_002825.3:p.?	NC_000012.11:g.112888323A>T	(Likely) benign	1 lab	41dbc93457
10:75830860 VCL C>T	10	75830860	75830860	C	T	VCL	c.499+19C>T	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75830860C>T	(Likely) benign	1 lab	41dd731bf1
12:133250163 POLE G>C	12	133250163	133250163	G	C	POLE	c.1357C>G	NM_006231.4	NP_006222.2:p.(Gln453Glu)	NC_000012.11:g.133250163G>C	VUS	1 lab	ed027755da
9:131375708 SPTAN1 G>C	9	131375708	131375708	G	C	SPTAN1	c.5092G>C	NM_001130438.2	NP_001123910.1:p.(Val1698Leu)	NC_000009.11:g.131375708G>C	VUS	1 lab	41dfb79818
11:103194685 DYNC2H1 C>T	11	103194685	103194685	C	T	DYNC2H1	c.12027C>T	NM_001080463.1	NP_001073932.1:p.(Ile4009=)	NC_000011.9:g.103194685C>T	(Likely) benign	1 lab	41e036f70c
4:39515779 UGDH G>A	4	39515779	39515779	G	A	UGDH	c.188C>T	NM_003359.4	NP_003350.1:p.(Ser63Phe)	NC_000004.11:g.39515779G>A	VUS	1 lab	41e0a812b8
9:103035366 INVS T>C	9	103035366	103035366	T	C	INVS	c.1784+8T>C	NM_014425.4	NP_055240.2:p.?	NC_000009.11:g.103035366T>C	(Likely) benign	1 lab	41e126273f
X:14861834 FANCB T>C	X	14861834	14861834	T	C	FANCB	c.2435A>G	NM_001018113.1	NP_001018123.1:p.(Tyr812Cys)	NC_000023.10:g.14861834T>C	(Likely) benign	1 lab	41e18822d6
12:51590581 POU6F1 C>T	12	51590581	51590581	C	T	POU6F1	c.975+1G>A	NM_001330422.1	NP_001317351.1:p.?	NC_000012.11:g.51590581C>T	VUS	1 lab	41e1d970cf
11:6591302 DNHD1 TC>T	11	6591302	6591306	TC	T	DNHD1	c.12931del	NM_144666.3	NP_653267.2:p.(Arg4311ValfsTer26)	NC_000011.9:g.6591306del	VUS	1 lab	41e3e36f8e
17:7573931 TP53 A>C	17	7573931	7573931	A	C	TP53	c.979T>G	NM_001126118.1	NP_001119590.1:p.(Ser327Ala)	NC_000017.10:g.7573931A>C	(Likely) benign	1 lab	41e87c4395
16:2138048 TSC2 G>A	16	2138048	2138048	G	A	TSC2	c.5069-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138048G>A	(Likely) pathogenic	1 lab	41e96a8969
9:135778028 TSC1 G>C	9	135778028	135778028	G	C	TSC1	c.2355C>G	NM_000368.4	NP_000359.1:p.(Asp785Glu)	NC_000009.11:g.135778028G>C	(Likely) benign	1 lab	41eb0b7669
X:153296046 MECP2 G>A	X	153296046	153296046	G	A	MECP2	c.1233C>T	NM_004992.3	NP_004983.1:p.(Ser411=)	NC_000023.10:g.153296046G>A	(Likely) benign	1 lab	41ed41d4ab
X:9936009 CLDN34 C>T	X	9936009	9936009	C	T	CLDN34	c.612C>T	NM_001195081.1	NP_001182010.1:p.(Tyr204=)	NC_000023.10:g.9936009C>T	(Likely) benign	1 lab	41ed47bbc1
X:154158518 F8 T>C	X	154158518	154158518	T	C	F8	c.3547A>G	NM_000132.3	NP_000123.1:p.(Lys1183Glu)	NC_000023.10:g.154158518T>C	(Likely) benign	1 lab	41ed6b7986
X:153070074 PDZD4 G>T	X	153070074	153070074	G	T	PDZD4	c.1044C>A	NM_032512.3	NP_115901.2:p.(Gly348=)	NC_000023.10:g.153070074G>T	(Likely) benign	1 lab	41f061f727
15:28463737 HERC2 G>A	15	28463737	28463737	G	A	HERC2	c.5926C>T	NM_004667.5	NP_004658.3:p.(Leu1976=)	NC_000015.9:g.28463737G>A	(Likely) benign	1 lab	41f37ae9a0
19:42402684 ARHGEF1 C>T	19	42402684	42402684	C	T	ARHGEF1	c.1260C>T	NM_199002.1	NP_945353.1:p.(Asp420=)	NC_000019.9:g.42402684C>T	(Likely) benign	1 lab	41f5d5ec45
8:57079579 PLAG1 CT>C	8	57079579	57079581	CT	C	PLAG1	c.725del	NM_002655.3	NP_002646.2:p.(Lys242ArgfsTer21)	NC_000008.10:g.57079581del	(Likely) pathogenic	1 lab	41f6827835
8:145641458 SLC39A4 G>A	8	145641458	145641458	G	A	SLC39A4	c.135C>T	NM_017767.2	NP_060237.2:p.(Asp45=)	NC_000008.10:g.145641458G>A	(Likely) benign	1 lab	41f6b35f99
20:61386100 NTSR1 G>A	20	61386100	61386100	G	A	NTSR1	c.778G>A	NM_002531.3	NP_002522.2:p.(Ala260Thr)	NC_000020.10:g.61386100G>A	VUS	1 lab	41fc397dd7
6:111695304 REV3L A>G	6	111695304	111695304	A	G	REV3L	c.4020T>C	NM_001286431.1	NP_001273360.1:p.(Asn1340=)	NC_000006.11:g.111695304A>G	(Likely) benign	1 lab	41fc82ce33
22:40814373 MRTFA G>A	22	40814373	40814373	G	A	MRTFA				NC_000022.10:g.40814373G>A	(Likely) benign	1 lab	41fd0a92b5
17:29587532 NF1 AG>A	17	29587532	29587534	AG	A	NF1	c.4577+1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29587534del	(Likely) pathogenic	1 lab	41ffeaa4dc
3:133474225 TF C>T	3	133474225	133474225	C	T	TF	c.521C>T	NM_001063.3	NP_001054.1:p.(Ser174Leu)	NC_000003.11:g.133474225C>T	VUS	1 lab	4200617c10
5:89990019 ADGRV1 C>G	5	89990019	89990019	C	G	ADGRV1	c.7446C>G	NM_032119.4	NP_115495.3:p.(Tyr2482Ter)	NC_000005.9:g.89990019C>G	(Likely) pathogenic	1 lab	420199a701
9:139438563 NOTCH1 G>C	9	139438563	139438563	G	C	NOTCH1	c.62-9C>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139438563G>C	(Likely) benign	1 lab	4201e2b9be
14:99642240 BCL11B C>A	14	99642240	99642240	C	A	BCL11B	c.933G>T	NM_138576.3	NP_612808.1:p.(Pro311=)	NC_000014.8:g.99642240C>A	(Likely) benign	1 lab	4206be889f
10:75867083 VCL C>T	10	75867083	75867083	C	T	VCL	c.2530C>T	NM_014000.2	NP_054706.1:p.(Pro844Ser)	NC_000010.10:g.75867083C>T	VUS	1 lab	4208612256
19:9050059 MUC16 C>A	19	9050059	9050059	C	A	MUC16	c.31572G>T	NM_024690.2	NP_078966.2:p.(Met10524Ile)	NC_000019.9:g.9050059C>A	(Likely) benign	1 lab	4208ddc415
19:46285467 DMPK G>A	19	46285467	46285467	G	A	DMPK	c.163C>T	NM_001288764.1	NP_001275693.1:p.(Arg55Ter)	NC_000019.9:g.46285467G>A	VUS	1 lab	420b6fcc84
4:126329780 FAT4 A>G	4	126329780	126329780	A	G	FAT4	c.5751A>G	NM_024582.4	NP_078858.4:p.(Arg1917=)	NC_000004.11:g.126329780A>G	(Likely) benign	1 lab	420d7e0ec6
2:179588797 TTN C>T	2	179588797	179588797	C	T	TTN	c.21189G>A	NM_001267550.1	NP_001254479.1:p.(Leu7063=)	NC_000002.11:g.179588797C>T	(Likely) benign	1 lab	420e098bb9
2:71185530 ATP6V1B1 G>A	2	71185530	71185530	G	A	ATP6V1B1	c.341G>A	NM_001692.4	NP_001683.2:p.(Arg114Gln)	NC_000002.11:g.71185530G>A	VUS	1 lab	42113f3a1b
2:233712235 GIGYF2 A>C	2	233712235	233712235	A	C	GIGYF2	c.3638A>C	NM_015575.3	NP_056390.2:p.(Gln1213Pro)	NC_000002.11:g.233712235A>C	(Likely) benign	1 lab	421212955a
16:85696600 GSE1 C>T	16	85696600	85696600	C	T	GSE1	c.2274C>T	NM_014615.4	NP_055430.1:p.(Asp758=)	NC_000016.9:g.85696600C>T	(Likely) benign	1 lab	4213f66949
2:217280031 SMARCAL1 C>A	2	217280031	217280031	C	A	SMARCAL1	c.604C>A	NM_014140.3	NP_054859.2:p.(Gln202Lys)	NC_000002.11:g.217280031C>A	(Likely) benign	1 lab	421429ec31
12:52842672 KRT6B C>T	12	52842672	52842672	C	T	KRT6B	c.1157G>A	NM_005555.4	NP_005546.2:p.(Arg386His)	NC_000012.11:g.52842672C>T	VUS	1 lab	ed09d80576
17:29486060 NF1 A>G	17	29486060	29486060	A	G	NF1	c.237A>G	NM_001042492.2	NP_001035957.1:p.(Leu79=)	NC_000017.10:g.29486060A>G	(Likely) benign	1 lab	4217d9c0d1
11:6647266 DCHS1 T>C	11	6647266	6647266	T	C	DCHS1				NC_000011.9:g.6647266T>C	(Likely) benign	1 lab	4219347f98
12:56398479 SUOX G>A	12	56398479	56398479	G	A	SUOX	c.1306G>A	NM_000456.2	NP_000447.2:p.(Glu436Lys)	NC_000012.11:g.56398479G>A	(Likely) benign	1 lab	4219781042
X:34148441 FAM47A G>A	X	34148441	34148441	G	A	FAM47A	c.1955C>T	NM_203408.3	NP_981953.2:p.(Ser652Leu)	NC_000023.10:g.34148441G>A	(Likely) benign	1 lab	421a6f9d8d
1:66062224 LEPR C>T	1	66062224	66062224	C	T	LEPR	c.797C>T	NM_002303.6	NP_002294.2:p.(Pro266Leu)	NC_000001.10:g.66062224C>T	VUS	1 lab	ed0f2b0fc4
15:25616108 UBE3A T>A	15	25616108	25616108	T	A	UBE3A	c.1153A>T	NM_130838.1	NP_570853.1:p.(Thr385Ser)	NC_000015.9:g.25616108T>A	VUS	1 lab	421b06a2f5
10:64967841 JMJD1C T>A	10	64967841	64967841	T	A	JMJD1C	c.3588A>T	NM_032776.2	NP_116165.1:p.(Thr1196=)	NC_000010.10:g.64967841T>A	(Likely) benign	1 lab	421b8f1eb5
15:67073814 SMAD6 C>A	15	67073814	67073814	C	A	SMAD6	c.1432C>A	NM_005585.4	NP_005576.3:p.(Arg478=)	NC_000015.9:g.67073814C>A	(Likely) benign	1 lab	421c784db4
X:138644146 F9 G>A	X	138644146	138644146	G	A	F9	c.1302G>A	NM_000133.3	NP_000124.1:p.(Glu434=)	NC_000023.10:g.138644146G>A	(Likely) benign	1 lab	421f58ebf6
17:78155359 CARD14 C>T	17	78155359	78155359	C	T	CARD14	c.122C>T	NM_024110.4	NP_077015.2:p.(Pro41Leu)	NC_000017.10:g.78155359C>T	VUS	1 lab	422026945a
6:72892439 RIMS1 C>T	6	72892439	72892439	C	T	RIMS1	c.1265C>T	NM_014989.5	NP_055804.2:p.(Pro422Leu)	NC_000006.11:g.72892439C>T	(Likely) benign	1 lab	4220e89945
5:176678861 NSD1 T>C	5	176678861	176678861	T	C	NSD1	c.4765+7T>C	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176678861T>C	(Likely) benign	1 lab	4221dcc3e6
11:62295315 AHNAK T>G	11	62295315	62295315	T	G	AHNAK	c.6574A>C	NM_001620.2	NP_001611.1:p.(Asn2192His)	NC_000011.9:g.62295315T>G	(Likely) benign	1 lab	42221b483a
5:150886785 FAT2 C>T	5	150886785	150886785	C	T	FAT2	c.12447G>A	NM_001447.2	NP_001438.1:p.(Pro4149=)	NC_000005.9:g.150886785C>T	(Likely) benign	1 lab	4222257a72
20:42745024 JPH2 G>T	20	42745024	42745024	G	T	JPH2	c.1291C>A	NM_020433.4	NP_065166.2:p.(Pro431Thr)	NC_000020.10:g.42745024G>T	VUS	1 lab	42224321b1
11:46897104 LRP4 G>C	11	46897104	46897104	G	C	LRP4	c.3828C>G	NM_002334.4	NP_002325.2:p.(His1276Gln)	NC_000011.9:g.46897104G>C	VUS	1 lab	ed19ae4647
17:42429763 GRN G>A	17	42429763	42429763	G	A	GRN	c.1468G>A	NM_002087.2	NP_002078.1:p.(Val490Met)	NC_000017.10:g.42429763G>A	VUS	1 lab	4223169fad
2:179665105 TTN C>G	2	179665105	179665105	C	G	TTN	c.583+17G>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179665105C>G	(Likely) benign	1 lab	422357eebf
6:70451703 LMBRD1 T>C	6	70451703	70451703	T	C	LMBRD1	c.540A>G	NM_018368.4	NP_060838.3:p.(Leu180=)	NC_000006.11:g.70451703T>C	(Likely) benign	1 lab	4223725cbc
3:164786884 SI T>A	3	164786884	164786884	T	A	SI	c.355A>T	NM_001041.3	NP_001032.2:p.(Met119Leu)	NC_000003.11:g.164786884T>A	(Likely) benign	1 lab	4223d1b395
16:2129040 TSC2 C>T	16	2129040	2129040	C	T	TSC2	c.2974C>T	NM_000548.3	NP_000539.2:p.(Gln992Ter)	NC_000016.9:g.2129040C>T	(Likely) pathogenic	1 lab	42242f0f55
1:247607437 NLRP3 G>C	1	247607437	247607437	G	C	NLRP3	c.2827G>C	NM_001243133.1	NP_001230062.1:p.(Val943Leu)	NC_000001.10:g.247607437G>C	(Likely) benign	1 lab	422600d624
15:90193040 KIF7 C>T	15	90193040	90193040	C	T	KIF7	c.461G>A	NM_198525.2	NP_940927.2:p.(Arg154Gln)	NC_000015.9:g.90193040C>T	VUS	1 lab	42275026f9
10:88705420 MMRN2 T>C	10	88705420	88705420	T	C	MMRN2	c.191A>G	NM_024756.2	NP_079032.2:p.(Lys64Arg)	NC_000010.10:g.88705420T>C	(Likely) benign	1 lab	4227f773a4
7:117254700 CFTR CTT>C	7	117254700	117254703	CTT	C	CFTR	c.3403_3404del	NM_000492.4	NP_000483.3:p.(Leu1135SerfsTer20)	NC_000007.13:g.117254702_117254703del	(Likely) pathogenic	1 lab	4228b81335
4:71498376 ENAM G>T	4	71498376	71498376	G	T	ENAM	c.177G>T	NM_031889.3	NP_114095.2:p.(Arg59=)	NC_000004.11:g.71498376G>T	(Likely) benign	1 lab	42293ffda6
8:145624203 CPSF1 A>G	8	145624203	145624203	A	G	CPSF1	c.1604T>C	NM_013291.3	NP_037423.2:p.(Met535Thr)	NC_000008.10:g.145624203A>G	VUS	1 lab	42299e618c
2:128047311 ERCC3 C>T	2	128047311	128047311	C	T	ERCC3	c.419G>A	NM_001303418.1	NP_001290347.1:p.(Gly140Glu)	NC_000002.11:g.128047311C>T	(Likely) benign	1 lab	4229b19dc2
1:215824060 USH2A T>C	1	215824060	215824060	T	C	USH2A	c.14217A>G	NM_206933.2	NP_996816.2:p.(Arg4739=)	NC_000001.10:g.215824060T>C	(Likely) benign	1 lab	422a0c1c38
9:14747712 FREM1 A>G	9	14747712	14747712	A	G	FREM1	c.5811T>C	NM_144966.5	NP_659403.4:p.(Ser1937=)	NC_000009.11:g.14747712A>G	(Likely) benign	1 lab	422b6125a5
16:21721245 OTOA C>G	16	21721245	21721245	C	G	OTOA	c.1141C>G	NM_144672.4	NP_653273.3:p.(Gln381Glu)	NC_000016.9:g.21721245C>G	(Likely) benign	1 lab	422d6d5c30
9:69423311 MISSING TG>T	9	69423311	69423313	TG	T	MISSING				NC_000009.11:g.69423313del	VUS	1 lab	423095a6f2
15:86790991 AGBL1 G>A	15	86790991	86790991	G	A	AGBL1	c.616G>A	NM_152336.3	NP_689549.3:p.(Ala206Thr)	NC_000015.9:g.86790991G>A	(Likely) benign	1 lab	4232af9c2f
15:73614995 HCN4 C>A	15	73614995	73614995	C	A	HCN4	c.3439G>T	NM_005477.2	NP_005468.1:p.(Gly1147Cys)	NC_000015.9:g.73614995C>A	VUS	1 lab	4233cc0e62
12:8234897 NECAP1 T>C	12	8234897	8234897	T	C	NECAP1	c.13T>C	NM_015509.3	NP_056324.2:p.(Leu5=)	NC_000012.11:g.8234897T>C	(Likely) benign	1 lab	42356264fe
19:36223506 KMT2B G>C	19	36223506	36223506	G	C	KMT2B	c.6056G>C	NM_014727.2	NP_055542.1:p.(Gly2019Ala)	NC_000019.9:g.36223506G>C	(Likely) benign	1 lab	42361934cb
14:94007101 UNC79 A>G	14	94007101	94007101	A	G	UNC79	c.917A>G	NM_020818.4	NP_065869.3:p.(Asp306Gly)	NC_000014.8:g.94007101A>G	VUS	1 lab	423750559f
12:111746287 CUX2 G>A	12	111746287	111746287	G	A	CUX2	c.1215G>A	NM_015267.3	NP_056082.2:p.(Thr405=)	NC_000012.11:g.111746287G>A	(Likely) benign	1 lab	4238561db1
7:142459824 PRSS1 G>A	7	142459824	142459824	G	A	PRSS1	c.400G>A	NM_002769.4	NP_002760.1:p.(Ala134Thr)	NC_000007.13:g.142459824G>A	(Likely) benign	1 lab	4239d20908
15:28955663 GOLGA8M G>C	15	28955663	28955663	G	C	GOLGA8M	c.138C>G	NM_001282468.1	NP_001269397.1:p.(Ala46=)	NC_000015.9:g.28955663G>C	(Likely) benign	1 lab	423aa9111a
20:61981367 CHRNA4 G>A	20	61981367	61981367	G	A	CHRNA4	c.1396C>T	NM_000744.6	NP_000735.1:p.(Leu466Phe)	NC_000020.10:g.61981367G>A	VUS	1 lab	423c036ddd
2:25469598 DNMT3A G>A	2	25469598	25469598	G	A	DNMT3A	c.1170C>T	NM_175629.2	NP_783328.1:p.(Ser390=)	NC_000002.11:g.25469598G>A	(Likely) benign	1 lab	423d172742
19:51856469 ETFB G>A	19	51856469	51856469	G	A	ETFB	c.565C>T	NM_001014763.1	NP_001014763.1:p.(Arg189Cys)	NC_000019.9:g.51856469G>A	VUS	1 lab	423da76f03
7:32612984 AVL9 G>C	7	32612984	32612984	G	C	AVL9	c.1524G>C	NM_015060.3	NP_055875.1:p.(Gln508His)	NC_000007.13:g.32612984G>C	VUS	1 lab	423ead6cc7
15:53833252 WDR72 C>G	15	53833252	53833252	C	G	WDR72	c.26G>C	NM_001277176.1	NP_001264105.1:p.(Trp9Ser)	NC_000015.9:g.53833252C>G	VUS	1 lab	423f68a05f
9:18928095 SAXO1 A>T	9	18928095	18928095	A	T	SAXO1	c.1380T>A	NM_153707.4	NP_714918.2:p.(Asp460Glu)	NC_000009.11:g.18928095A>T	(Likely) benign	1 lab	42403c3252
7:42005554 GLI3 C>T	7	42005554	42005554	C	T	GLI3	c.3117G>A	NM_000168.5	NP_000159.3:p.(Ala1039=)	NC_000007.13:g.42005554C>T	(Likely) benign	1 lab	4240b01356
19:48052675 ZNF541 G>A	19	48052675	48052675	G	A	ZNF541	c.375C>T	NM_001277075.2	NP_001264004.1:p.(Ala125=)	NC_000019.9:g.48052675G>A	(Likely) benign	1 lab	4242ac0416
10:104269217 SUFU G>A	10	104269217	104269217	G	A	SUFU	c.317+157G>A	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104269217G>A	(Likely) benign	1 lab	4244c508be
12:6166076 VWF G>A	12	6166076	6166076	G	A	VWF	c.1892C>T	NM_000552.3	NP_000543.2:p.(Ala631Val)	NC_000012.11:g.6166076G>A	VUS	1 lab	4245104c6d
18:44126919 LOXHD1 G>A	18	44126919	44126919	G	A	LOXHD1	c.3453C>T	NM_144612.6	NP_653213.6:p.(Ser1151=)	NC_000018.9:g.44126919G>A	(Likely) benign	1 lab	42454ee8b5
X:153688736 PLXNA3 C>T	X	153688736	153688736	C	T	PLXNA3	c.213C>T	NM_017514.4	NP_059984.3:p.(Val71=)	NC_000023.10:g.153688736C>T	(Likely) benign	1 lab	4246a7c7b8
9:135778016 TSC1 GAATTC>G	9	135778016	135778021	GAATTC	G	TSC1	c.2362_2366del	NM_000368.5	NP_000359.1:p.(Glu788LeufsTer36)	NC_000009.11:g.135778017_135778021del	(Likely) pathogenic	1 lab	4247e2104b
3:155571499 SLC33A1 T>G	3	155571499	155571499	T	G	SLC33A1	c.288A>C	NM_004733.3	NP_004724.1:p.(Pro96=)	NC_000003.11:g.155571499T>G	(Likely) benign	1 lab	424a0e15e6
16:3024011 PKMYT1 C>G	16	3024011	3024011	C	G	PKMYT1	c.1300G>C	NM_182687.2	NP_872629.1:p.(Asp434His)	NC_000016.9:g.3024011C>G	VUS	1 lab	424c1e7844
19:3638999 PIP5K1C C>T	19	3638999	3638999	C	T	PIP5K1C	c.1803G>A	NM_012398.2	NP_036530.1:p.(Pro601=)	NC_000019.9:g.3638999C>T	(Likely) benign	1 lab	424d27a82d
11:62609195 WDR74 A>G	11	62609195	62609195	A	G	WDR74	c.-452T>C	NM_001369451.1	NP_001356380.1:p.?	NC_000011.9:g.62609195A>G	(Likely) benign	1 lab	ed228b158e
7:2617938 IQCE G>C	7	2617938	2617938	G	C	IQCE	c.528G>C	NM_152558.5	NP_689771.3:p.(Glu176Asp)	NC_000007.13:g.2617938G>C	VUS	1 lab	4253150256
4:2826416 SH3BP2 C>T	4	2826416	2826416	C	T	SH3BP2	c.316C>T	NM_003023.4	NP_003014.3:p.(Arg106Cys)	NC_000004.11:g.2826416C>T	VUS	1 lab	425335ce79
6:108243122 SEC63 A>G	6	108243122	108243122	A	G	SEC63	c.340-9T>C	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108243122A>G	(Likely) benign	1 lab	ed2373c4f6
8:145639775 SLC39A4 G>A	8	145639775	145639775	G	A	SLC39A4	c.945C>T	NM_017767.2	NP_060237.2:p.(Cys315=)	NC_000008.10:g.145639775G>A	(Likely) benign	1 lab	425376cdd5
11:5717856 TRIM22 C>T	11	5717856	5717856	C	T	TRIM22	c.394C>T	NM_001199573.1	NP_001186502.1:p.(Arg132Cys)	NC_000011.9:g.5717856C>T	VUS	1 lab	425436f7ff
11:124757317 ROBO4 C>T	11	124757317	124757317	C	T	ROBO4	c.2135G>A	NM_019055.5	NP_061928.4:p.(Arg712His)	NC_000011.9:g.124757317C>T	(Likely) benign	1 lab	4256cc44f3
19:12924155 RNASEH2A TC>T	19	12924155	12924157	TC	T	RNASEH2A	c.777del	NM_006397.3	NP_006388.2:p.(Glu260ArgfsTer56)	NC_000019.9:g.12924157del	(Likely) pathogenic	1 lab	425785ab20
22:51159474 MISSING C>A	22	51159474	51159474	C	A	MISSING				NC_000022.10:g.51159474C>A	(Likely) benign	1 lab	52ca8a4e7f
17:41243451 BRCA1 C>T	17	41243451	41243451	C	T	BRCA1	c.4096+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243451C>T	VUS	1 lab	ed25220e12
6:158540158 SERAC1 C>T	6	158540158	158540158	C	T	SERAC1	c.1211G>A	NM_032861.3	NP_116250.3:p.(Gly404Glu)	NC_000006.11:g.158540158C>T	(Likely) pathogenic	1 lab	42592541ce
1:215848385 USH2A GT>G	1	215848385	215848387	GT	G	USH2A	c.12867del	NM_206933.4	NP_996816.3:p.(Glu4289AspfsTer26)	NC_000001.10:g.215848387del	(Likely) pathogenic	1 lab	4259997506
6:16327915 ATXN1 A>C	6	16327915	16327915	A	C	ATXN1	c.627T>G	NM_000332.3	NP_000323.2:p.(His209Gln)	NC_000006.11:g.16327915A>C	(Likely) benign	1 lab	4259ae2233
19:45858047 ERCC2 C>T	19	45858047	45858047	C	T	ERCC2	c.1606G>A	NM_000400.3	NP_000391.1:p.(Val536Met)	NC_000019.9:g.45858047C>T	VUS	1 lab	425adfe76d
16:3786029 CREBBP G>A	16	3786029	3786029	G	A	CREBBP	c.4728+8C>T	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3786029G>A	(Likely) benign	1 lab	425b6aa14e
19:16687498 MED26 A>AC	19	16687498	16687499	A	AC	MED26	c.1142dup	NM_004831.3	NP_004822.2:p.(Ser381ArgfsTer2)	NC_000019.9:g.16687499dup	VUS	1 lab	425beb0f52
9:98774938 ERCC6L2 G>C	9	98774938	98774938	G	C	ERCC6L2	c.4139G>C	NM_020207.4	NP_064592.2:p.(Ser1380Thr)	NC_000009.11:g.98774938G>C	VUS	1 lab	425e47cfeb
7:21904178 DNAH11 A>G	7	21904178	21904178	A	G	DNAH11				NC_000007.13:g.21904178A>G	(Likely) benign	1 lab	425f7a081e
8:95653687 ESRP1 C>T	8	95653687	95653687	C	T	ESRP1	c.132+9C>T	NM_001034915.2	NP_001030087.2:p.?	NC_000008.10:g.95653687C>T	(Likely) benign	1 lab	425fce139e
X:118223133 KIAA1210 A>G	X	118223133	118223133	A	G	KIAA1210	c.2060T>C	NM_020721.1	NP_065772.1:p.(Val687Ala)	NC_000023.10:g.118223133A>G	(Likely) benign	1 lab	4260ee92d1
5:110436296 WDR36 C>T	5	110436296	110436296	C	T	WDR36	c.586C>T	NM_139281.2	NP_644810.1:p.(Leu196=)	NC_000005.9:g.110436296C>T	(Likely) benign	1 lab	42615d324d
9:139410441 NOTCH1 C>T	9	139410441	139410441	C	T	NOTCH1	c.1661G>A	NM_017617.5	NP_060087.3:p.(Cys554Tyr)	NC_000009.11:g.139410441C>T	VUS	1 lab	4261bb0398
17:30323858 SUZ12 AGT>A	17	30323858	30323861	AGT	A	SUZ12	c.1838_1839del	NM_015355.4	NP_056170.2:p.(Val613AspfsTer16)	NC_000017.10:g.30323860_30323861del	VUS	1 lab	42643202ff
X:66942700 AR C>A	X	66942700	66942700	C	A	AR	c.2481C>A	NM_000044.4	NP_000035.2:p.(Phe827Leu)	NC_000023.10:g.66942700C>A	(Likely) benign	1 lab	4264529b6b
5:149441347 CSF1R G>A	5	149441347	149441347	G	A	CSF1R	c.1692C>T	NM_005211.3	NP_005202.2:p.(Ile564=)	NC_000005.9:g.149441347G>A	(Likely) benign	1 lab	426455add2
5:112170767 APC T>C	5	112170767	112170767	T	C	APC	c.1863T>C	NM_001354895.1	NP_001341824.1:p.(Thr621=)	NC_000005.9:g.112170767T>C	(Likely) benign	1 lab	4264989ce3
5:145199550 PRELID2 CCT>C	5	145199550	145199554	CCT	C	PRELID2	c.163_164del	NM_205846.3	NP_995318.1:p.(Arg55AspfsTer22)	NC_000005.9:g.145199553_145199554del	VUS	1 lab	42650f27b0
X:37061359 FTHL18P C>T	X	37061359	37061359	C	T	FTHL18P	c.403G>A	NM_001271682.1	NP_001258611.1:p.(Gly135Arg)	NC_000023.10:g.37061359C>T	VUS	1 lab	426598d222
12:42858478 PRICKLE1 G>A	12	42858478	42858478	G	A	PRICKLE1	c.1358C>T	NM_153026.2	NP_694571.2:p.(Thr453Ile)	NC_000012.11:g.42858478G>A	(Likely) benign	1 lab	426757b79a
2:241537305 CAPN10 G>A	2	241537305	241537305	G	A	CAPN10	c.1744G>A	NM_023083.3	NP_075571.1:p.(Val582Ile)	NC_000002.11:g.241537305G>A	VUS	1 lab	4267a8efa4
13:32907104 BRCA2 T>G	13	32907104	32907104	T	G	BRCA2	c.1489T>G	NM_000059.3	NP_000050.2:p.(Ser497Ala)	NC_000013.10:g.32907104T>G	(Likely) benign	1 lab	42693a0c3f
8:98041661 CPQ T>A	8	98041661	98041661	T	A	CPQ	c.992T>A	NM_016134.4	NP_057218.1:p.(Val331Glu)	NC_000008.10:g.98041661T>A	VUS	1 lab	426b22fd63
6:152603109 SYNE1 A>G	6	152603109	152603109	A	G	SYNE1	c.18214T>C	NM_182961.3	NP_892006.3:p.(Leu6072=)	NC_000006.11:g.152603109A>G	(Likely) benign	1 lab	426badb5b2
1:247588899 NLRP3 T>C	1	247588899	247588899	T	C	NLRP3	c.2148T>C	NM_001243133.1	NP_001230062.1:p.(His716=)	NC_000001.10:g.247588899T>C	(Likely) benign	1 lab	426c2065cd
X:152815602 ATP2B3 G>A	X	152815602	152815602	G	A	ATP2B3	c.1681G>A	NM_021949.3	NP_068768.2:p.(Val561Met)	NC_000023.10:g.152815602G>A	(Likely) benign	1 lab	426c39b4e1
7:48356856 ABCA13 C>T	7	48356856	48356856	C	T	ABCA13	c.9962C>T	NM_152701.4	NP_689914.3:p.(Thr3321Ile)	NC_000007.13:g.48356856C>T	VUS	1 lab	426caf94c3
1:172628512 FASLG G>A	1	172628512	172628512	G	A	FASLG	c.171G>A	NM_000639.1	NP_000630.1:p.(Pro57=)	NC_000001.10:g.172628512G>A	(Likely) benign	1 lab	426d2e7f01
9:139324740 INPP5E C>T	9	139324740	139324740	C	T	INPP5E	c.1791G>A	NM_019892.5	NP_063945.2:p.(Pro597=)	NC_000009.11:g.139324740C>T	(Likely) benign	1 lab	426f54ecf3
13:36229098 NBEA T>A	13	36229098	36229098	T	A	NBEA	c.8079T>A	NM_015678.4	NP_056493.3:p.(Leu2693=)	NC_000013.10:g.36229098T>A	(Likely) benign	1 lab	4271036c20
9:139402760 NOTCH1 G>A	9	139402760	139402760	G	A	NOTCH1	c.3249C>T	NM_017617.5	NP_060087.3:p.(Cys1083=)	NC_000009.11:g.139402760G>A	(Likely) benign	1 lab	42717322dd
9:2635497 VLDLR G>A	9	2635497	2635497	G	A	VLDLR	c.127G>A	NM_003383.4	NP_003374.3:p.(Gly43Ser)	NC_000009.11:g.2635497G>A	VUS	1 lab	42720023ff
12:111348891 MYL2 T>G	12	111348891	111348891	T	G	MYL2	c.491A>C	NM_000432.3	NP_000423.2:p.(Glu164Ala)	NC_000012.11:g.111348891T>G	VUS	1 lab	4272c03ae3
2:21236165 APOB A>C	2	21236165	21236165	A	C	APOB	c.4083T>G	NM_000384.3	NP_000375.3:p.(Asn1361Lys)	NC_000002.11:g.21236165A>C	(Likely) benign	1 lab	ed2a41b08f
9:135781265 TSC1 G>A	9	135781265	135781265	G	A	TSC1	c.1700C>T	NM_000368.4	NP_000359.1:p.(Ala567Val)	NC_000009.11:g.135781265G>A	(Likely) benign	1 lab	4274be82cd
20:45358011 SLC2A10 G>C	20	45358011	45358011	G	C	SLC2A10	c.1431G>C	NM_030777.3	NP_110404.1:p.(Trp477Cys)	NC_000020.10:g.45358011G>C	VUS	1 lab	4275487d46
13:52548203 ATP7B C>T	13	52548203	52548203	C	T	ATP7B	c.1153G>A	NM_000053.3	NP_000044.2:p.(Glu385Lys)	NC_000013.10:g.52548203C>T	(Likely) benign	1 lab	4276995193
11:46722945 ZNF408 G>A	11	46722945	46722945	G	A	ZNF408	c.53-4G>A	NM_024741.2	NP_079017.1:p.?	NC_000011.9:g.46722945G>A	(Likely) benign	1 lab	427746436d
22:38121017 TRIOBP T>C	22	38121017	38121017	T	C	TRIOBP	c.2454T>C	NM_001039141.2	NP_001034230.1:p.(Cys818=)	NC_000022.10:g.38121017T>C	(Likely) benign	1 lab	4277844ee0
1:41303409 KCNQ4 C>G	1	41303409	41303409	C	G	KCNQ4	c.1818C>G	NM_004700.3	NP_004691.2:p.(Asp606Glu)	NC_000001.10:g.41303409C>G	(Likely) benign	1 lab	4277acfa54
2:179569002 TTN C>A	2	179569002	179569002	C	A	TTN	c.30095G>T	NM_001267550.1	NP_001254479.1:p.(Gly10032Val)	NC_000002.11:g.179569002C>A	VUS	1 lab	4278e4600b
4:94006333 GRID2 C>G	4	94006333	94006333	C	G	GRID2	c.432C>G	NM_001510.3	NP_001501.2:p.(Leu144=)	NC_000004.11:g.94006333C>G	(Likely) benign	1 lab	427bbfd5d6
13:23908013 SACS C>G	13	23908013	23908013	C	G	SACS	c.10002G>C	NM_014363.5	NP_055178.3:p.(Leu3334Phe)	NC_000013.10:g.23908013C>G	VUS	1 lab	427d806adf
12:32900216 YARS2 T>C	12	32900216	32900216	T	C	YARS2	c.1356A>G	NM_001040436.3	NP_001035526.1:p.(Gln452=)	NC_000012.11:g.32900216T>C	(Likely) benign	1 lab	ed3025f8e9
17:29556173 NF1 T>C	17	29556173	29556173	T	C	NF1	c.2540T>C	NM_000267.3	NP_000258.1:p.(Leu847Pro)	NC_000017.10:g.29556173T>C	(Likely) pathogenic	1 lab	427eb2ba7f
4:10117866 WDR1 G>C	4	10117866	10117866	G	C	WDR1	c.17-8C>G	NM_017491.4	NP_059830.1:p.?	NC_000004.11:g.10117866G>C	(Likely) benign	1 lab	427f53642a
9:432160 DOCK8 A>T	9	432160	432160	A	T	DOCK8	c.4627-6A>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.432160A>T	(Likely) benign	1 lab	4280444335
2:74362786 BOLA3 CTAAG>C	2	74362786	74362794	CTAAG	C	BOLA3	c.259-5_259-2del	NM_212552.3	NP_997717.2:p.?	NC_000002.11:g.74362791_74362794del	VUS	1 lab	42805bb104
2:29519816 ALK G>A	2	29519816	29519816	G	A	ALK				NC_000002.11:g.29519816G>A	(Likely) benign	1 lab	42806a6cee
7:5567923 ACTB G>C	7	5567923	5567923	G	C	ACTB	c.791C>G	NM_001101.3	NP_001092.1:p.(Pro264Arg)	NC_000007.13:g.5567923G>C	VUS	1 lab	4282131560
1:114454383 DCLRE1B C>T	1	114454383	114454383	C	T	DCLRE1B	c.1169C>T	NM_022836.4	NP_073747.1:p.(Ser390Phe)	NC_000001.10:g.114454383C>T	(Likely) benign	1 lab	428245030d
2:240009245 HDAC4 G>A	2	240009245	240009245	G	A	HDAC4	c.2429+10C>T	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240009245G>A	(Likely) benign	1 lab	42827b6f8e
6:13316875 TBC1D7 G>T	6	13316875	13316875	G	T	TBC1D7	c.447C>A	NM_016495.5	NP_057579.1:p.(Val149=)	NC_000006.11:g.13316875G>T	(Likely) pathogenic	1 lab	42847d111f
19:51885717 LIM2 G>A	19	51885717	51885717	G	A	LIM2	c.406C>T	NM_030657.3	NP_085915.2:p.(Arg136Cys)	NC_000019.9:g.51885717G>A	VUS	1 lab	4285525076
2:204354659 RAPH1 G>T	2	204354659	204354659	G	T	RAPH1	c.380C>A	NM_213589.2	NP_998754.1:p.(Thr127Lys)	NC_000002.11:g.204354659G>T	VUS	1 lab	42879ddc90
2:232123780 ARMC9 C>T	2	232123780	232123780	C	T	ARMC9	c.991C>T	NM_001291656.1	NP_001278585.1:p.(Arg331Cys)	NC_000002.11:g.232123780C>T	VUS	1 lab	428821716c
12:80887137 MISSING G>A	12	80887137	80887137	G	A	MISSING				NC_000012.11:g.80887137G>A	(Likely) benign	1 lab	4289276b46
18:47511170 MYO5B T>C	18	47511170	47511170	T	C	MYO5B	c.864A>G	NM_001080467.2	NP_001073936.1:p.(Thr288=)	NC_000018.9:g.47511170T>C	(Likely) benign	1 lab	42896e22d9
16:10995954 CIITA A>G	16	10995954	10995954	A	G	CIITA	c.544A>G	NM_001286402.1	NP_001273331.1:p.(Thr182Ala)	NC_000016.9:g.10995954A>G	(Likely) benign	1 lab	428a172782
X:40541988 MED14 G>A	X	40541988	40541988	G	A	MED14	c.2232C>T	NM_004229.3	NP_004220.2:p.(His744=)	NC_000023.10:g.40541988G>A	(Likely) benign	1 lab	428a1aa021
19:50119323 PRR12 C>CCCAAAGCCCGGCCTA	19	50119323	50119342	C	CCCAAAGCCCGGCCTA	PRR12	c.5349_5363dup	NM_020719.3	NP_065770.1:p.(Ala1784_Lys1788dup)	NC_000019.9:g.50119328_50119342dup	VUS	1 lab	ed37d2989c
19:9056455 MUC16 G>A	19	9056455	9056455	G	A	MUC16	c.30991C>T	NM_024690.2	NP_078966.2:p.(Pro10331Ser)	NC_000019.9:g.9056455G>A	VUS	1 lab	428e3e8fad
6:121768737 GJA1 T>C	6	121768737	121768737	T	C	GJA1	c.744T>C	NM_000165.5	NP_000156.1:p.(His248=)	NC_000006.11:g.121768737T>C	(Likely) benign	1 lab	428f6c37d4
15:43258458 UBR1 C>T	15	43258458	43258458	C	T	UBR1	c.4484G>A	NM_174916.3	NP_777576.1:p.(Trp1495Ter)	NC_000015.9:g.43258458C>T	(Likely) pathogenic	1 lab	ed3dbf0cd2
7:5568068 ACTB G>A	7	5568068	5568068	G	A	ACTB	c.646C>T	NM_001101.3	NP_001092.1:p.(Leu216=)	NC_000007.13:g.5568068G>A	(Likely) benign	1 lab	42906b9a83
X:65242007 VSIG4 G>A	X	65242007	65242007	G	A	VSIG4	c.964C>T	NM_001257403.1	NP_001244332.1:p.(Pro322Ser)	NC_000023.10:g.65242007G>A	(Likely) benign	1 lab	4291813028
12:42866211 PRICKLE1 G>A	12	42866211	42866211	G	A	PRICKLE1	c.108C>T	NM_153026.2	NP_694571.2:p.(Val36=)	NC_000012.11:g.42866211G>A	(Likely) benign	1 lab	4292314033
22:27021503 CRYBA4 G>A	22	27021503	27021503	G	A	CRYBA4	c.217G>A	NM_001886.2	NP_001877.1:p.(Glu73Lys)	NC_000022.10:g.27021503G>A	VUS	1 lab	42931764af
16:602653 CAPN15 G>A	16	602653	602653	G	A	CAPN15	c.2786G>A	NM_005632.3	NP_005623.1:p.(Gly929Asp)	NC_000016.9:g.602653G>A	VUS	1 lab	4293a058c7
X:75392984 PBDC1 C>T	X	75392984	75392984	C	T	PBDC1	c.11C>T	NM_016500.4	NP_057584.2:p.(Thr4Ile)	NC_000023.10:g.75392984C>T	VUS	1 lab	42947495a8
X:48826031 KCND1 C>G	X	48826031	48826031	C	G	KCND1	c.648G>C	NM_004979.5	NP_004970.3:p.(Arg216Ser)	NC_000023.10:g.48826031C>G	(Likely) benign	1 lab	4296604054
16:29495565 NPIPB12 T>A	16	29495565	29495565	T	A	NPIPB12	c.2232A>T	NM_001355401.1	NP_001342330.1:p.(Thr744=)	NC_000016.9:g.29495565T>A	(Likely) benign	1 lab	4296adbcef
1:3329187 PRDM16 G>C	1	3329187	3329187	G	C	PRDM16	c.2426G>C	NM_022114.3	NP_071397.3:p.(Ser809Thr)	NC_000001.10:g.3329187G>C	VUS	1 lab	4298f08dc7
10:79397036 KCNMA1 C>G	10	79397036	79397036	C	G	KCNMA1	c.365G>C	NM_001322830.1	NP_001309759.1:p.(Gly122Ala)	NC_000010.10:g.79397036C>G	(Likely) benign	1 lab	42991d3140
19:39401568 CCER2 C>A	19	39401568	39401568	C	A	CCER2	c.346G>T	NM_001243212.1	NP_001230141.1:p.(Glu116Ter)	NC_000019.9:g.39401568C>A	VUS	1 lab	42993ac8ad
X:77275823 ATP7A C>T	X	77275823	77275823	C	T	ATP7A	c.2709C>T	NM_000052.6	NP_000043.4:p.(Cys903=)	NC_000023.10:g.77275823C>T	(Likely) benign	1 lab	429a564b5f
22:38119950 TRIOBP GCCTCCAGAA>G	22	38119950	38119964	GCCTCCAGAA	G	TRIOBP	c.1393_1401del	NM_001039141.3	NP_001034230.1:p.(Arg465_Ser467del)	NC_000022.10:g.38119956_38119964del	VUS	1 lab	429ad8c383
2:74184290 DGUOK G>A	2	74184290	74184290	G	A	DGUOK	c.630G>A	NM_080916.2	NP_550438.1:p.(Glu210=)	NC_000002.11:g.74184290G>A	(Likely) benign	1 lab	429bc196f3
2:152732954 CACNB4 T>C	2	152732954	152732954	T	C	CACNB4	c.366A>G	NM_001320722.2	NP_001307651.1:p.(Gly122=)	NC_000002.11:g.152732954T>C	(Likely) benign	1 lab	429cc06aac
1:183085942 LAMC1 C>T	1	183085942	183085942	C	T	LAMC1	c.1468C>T	NM_002293.3	NP_002284.3:p.(Arg490Trp)	NC_000001.10:g.183085942C>T	(Likely) benign	1 lab	429d1dc5be
17:71189242 COG1 C>T	17	71189242	71189242	C	T	COG1	c.34C>T	NM_018714.2	NP_061184.1:p.(Arg12Trp)	NC_000017.10:g.71189242C>T	VUS	1 lab	429d9a1db3
17:27286422 SEZ6 C>T	17	27286422	27286422	C	T	SEZ6	c.1840G>A	NM_178860.4	NP_849191.3:p.(Gly614Ser)	NC_000017.10:g.27286422C>T	(Likely) benign	1 lab	429e0c6c06
3:150661626 CLRN1 C>T	3	150661626	150661626	C	T	CLRN1	c.406G>A	NM_001256819.1	NP_001243748.1:p.(Gly136Ser)	NC_000003.11:g.150661626C>T	VUS	1 lab	429f471f2a
2:27423972 MISSING C>T	2	27423972	27423972	C	T	MISSING				NC_000002.11:g.27423972C>T	(Likely) benign	1 lab	71047fbc84
17:1417158 INPP5K A>T	17	1417158	1417158	A	T	INPP5K	c.-77+8T>A	NM_001135642.1	NP_001129114.1:p.?	NC_000017.10:g.1417158A>T	(Likely) benign	1 lab	429f8659bd
6:16327903 ATXN1 CTGCTGA>C	6	16327903	16327920	CTGCTGA	C	ATXN1	c.633_638del	NM_001128164.2	NP_001121636.1:p.(His211_Gln212del)	NC_000006.11:g.16327915_16327920del	(Likely) benign	1 lab	42a014222c
2:179478873 TTN G>A	2	179478873	179478873	G	A	TTN	c.49251C>T	NM_001267550.1	NP_001254479.1:p.(Pro16417=)	NC_000002.11:g.179478873G>A	(Likely) benign	1 lab	42a08fcd89
6:43412644 ABCC10 G>A	6	43412644	43412644	G	A	ABCC10	c.2724G>A	NM_033450.2	NP_258261.2:p.(Pro908=)	NC_000006.11:g.43412644G>A	(Likely) benign	1 lab	42a09c2271
2:228135577 COL4A3 C>T	2	228135577	228135577	C	T	COL4A3	c.1667C>T	NM_000091.4	NP_000082.2:p.(Pro556Leu)	NC_000002.11:g.228135577C>T	VUS	1 lab	42a319214c
19:17104254 MISSING G>A	19	17104254	17104254	G	A	MISSING				NC_000019.9:g.17104254G>A	VUS	1 lab	42a5305890
2:179474051 TTN T>A	2	179474051	179474051	T	A	TTN	c.51986A>T	NM_001267550.2	NP_001254479.2:p.(Lys17329Met)	NC_000002.11:g.179474051T>A	VUS	1 lab	ed45c374f7
10:119003564 SLC18A2 T>G	10	119003564	119003564	T	G	SLC18A2	c.204T>G	NM_003054.6	NP_003045.2:p.(Thr68=)	NC_000010.10:g.119003564T>G	(Likely) benign	1 lab	42ae76ab7d
16:2129369 TSC2 C>T	16	2129369	2129369	C	T	TSC2	c.3224C>T	NM_000548.3	NP_000539.2:p.(Thr1075Ile)	NC_000016.9:g.2129369C>T	(Likely) benign	1 lab	42b2b3b719
X:153296071 MECP2 G>A	X	153296071	153296071	G	A	MECP2	c.1208C>T	NM_004992.3	NP_004983.1:p.(Pro403Leu)	NC_000023.10:g.153296071G>A	VUS	1 lab	42b4ce5f39
1:237778081 RYR2 G>T	1	237778081	237778081	G	T	RYR2	c.5653G>T	NM_001035.2	NP_001026.2:p.(Gly1885Trp)	NC_000001.10:g.237778081G>T	VUS	1 lab	42b7140fe8
4:77700071 SHROOM3 A>G	4	77700071	77700071	A	G	SHROOM3	c.5732A>G	NM_020859.3	NP_065910.3:p.(Asn1911Ser)	NC_000004.11:g.77700071A>G	(Likely) benign	1 lab	42b76cb2a0
17:29508791 NF1 A>G	17	29508791	29508791	A	G	NF1	c.718A>G	NM_000267.3	NP_000258.1:p.(Thr240Ala)	NC_000017.10:g.29508791A>G	(Likely) benign	1 lab	42b9292ccf
14:64600915 SYNE2 C>T	14	64600915	64600915	C	T	SYNE2	c.14643C>T	NM_182914.2	NP_878918.2:p.(Tyr4881=)	NC_000014.8:g.64600915C>T	(Likely) benign	1 lab	42baaf1103
6:54804653 SACK1B A>C	6	54804653	54804653	A	C	SACK1B	c.884A>C	NM_001010872.3	NP_001010872.1:p.(Lys295Thr)	NC_000006.11:g.54804653A>C	VUS	1 lab	42bb3661fe
X:102192671 RAB40AL A>AG	X	102192671	102192673	A	AG	RAB40AL	c.427dup	NM_001031834.1	NP_001027004.1:p.(Ala143GlyfsTer12)	NC_000023.10:g.102192673dup	VUS	1 lab	42bb5e3f2e
9:99694127 NUTM2G TG>T	9	99694127	99694129	TG	T	NUTM2G	c.142del	NM_001170741.3	NP_001164212.1:p.(Val48PhefsTer17)	NC_000009.11:g.99694129del	VUS	1 lab	42bd390df6
10:112337235 SMC3 A>G	10	112337235	112337235	A	G	SMC3	c.255A>G	NM_005445.3	NP_005436.1:p.(Ser85=)	NC_000010.10:g.112337235A>G	(Likely) benign	1 lab	42be1763dc
X:63574653 MTMR8 T>C	X	63574653	63574653	T	C	MTMR8	c.468+4A>G	NM_017677.3	NP_060147.2:p.?	NC_000023.10:g.63574653T>C	VUS	1 lab	42be4b8821
3:38592108 SCN5A G>A	3	38592108	38592108	G	A	SCN5A	c.5755C>T	NM_198056.2	NP_932173.1:p.(Arg1919Cys)	NC_000003.11:g.38592108G>A	VUS	1 lab	42be7463bf
8:42329732 SLC20A2 G>A	8	42329732	42329732	G	A	SLC20A2	c.177C>T	NM_006749.4	NP_006740.1:p.(Ser59=)	NC_000008.10:g.42329732G>A	(Likely) benign	1 lab	42bece783e
6:33273072 TAPBP T>A	6	33273072	33273072	T	A	TAPBP	c.562A>T	NM_003190.4	NP_003181.3:p.(Thr188Ser)	NC_000006.11:g.33273072T>A	(Likely) benign	1 lab	42bef748f2
5:6632817 NSUN2 T>G	5	6632817	6632817	T	G	NSUN2	c.149A>C	NM_017755.5	NP_060225.4:p.(His50Pro)	NC_000005.9:g.6632817T>G	VUS	1 lab	42c0746722
6:56476353 DST C>T	6	56476353	56476353	C	T	DST	c.5001G>A	NM_001144769.2	NP_001138241.1:p.(Ser1667=)	NC_000006.11:g.56476353C>T	(Likely) benign	1 lab	42c3da98bf
15:85401322 ALPK3 C>T	15	85401322	85401322	C	T	ALPK3	c.3959C>T	NM_020778.4	NP_065829.3:p.(Ala1320Val)	NC_000015.9:g.85401322C>T	(Likely) benign	1 lab	42c4811b67
11:1718535 KRTAP5-6 C>T	11	1718535	1718535	C	T	KRTAP5-6	c.60C>T	NM_001012416.1	NP_001012416.1:p.(Gly20=)	NC_000011.9:g.1718535C>T	(Likely) benign	1 lab	42c6fcca6f
10:97396916 ALDH18A1 G>A	10	97396916	97396916	G	A	ALDH18A1	c.492C>T	NM_001323413.1	NP_001310342.1:p.(Ala164=)	NC_000010.10:g.97396916G>A	(Likely) benign	1 lab	42d11fac73
11:18428637 LDHA A>ATT	11	18428637	18428649	A	ATT	LDHA	c.922-16_922-15dup	NM_001165414.2	NP_001158886.1:p.?	NC_000011.9:g.18428648_18428649dup	(Likely) benign	1 lab	ed4dc6913c
13:100637700 ZIC2 CCAGCGGCGGCGG>C	13	100637700	100637725	CCAGCGGCGGCGG	C	ZIC2	c.1377_1388del	NM_007129.5	NP_009060.2:p.(Ala467_Ala470del)	NC_000013.10:g.100637714_100637725del	(Likely) benign	1 lab	42cb3ee591
12:110760868 ATP2A2 A>G	12	110760868	110760868	A	G	ATP2A2	c.535A>G	NM_001681.4	NP_001672.1:p.(Ile179Val)	NC_000012.11:g.110760868A>G	VUS	1 lab	ed4f17db98
16:72130738 DHX38 G>A	16	72130738	72130738	G	A	DHX38	c.341G>A	NM_014003.3	NP_054722.2:p.(Arg114Gln)	NC_000016.9:g.72130738G>A	VUS	1 lab	42cdcdf9b7
3:170825893 TNIK T>C	3	170825893	170825893	T	C	TNIK	c.2343A>G	NM_015028.3	NP_055843.1:p.(Pro781=)	NC_000003.11:g.170825893T>C	(Likely) benign	1 lab	42ce2dd696
6:159173006 SYTL3 C>T	6	159173006	159173006	C	T	SYTL3	c.1081C>T	NM_001242394.1	NP_001229323.1:p.(Arg361Cys)	NC_000006.11:g.159173006C>T	VUS	1 lab	42ce5897f3
7:6441554 RAC1 C>A	7	6441554	6441554	C	A	RAC1	c.401C>A	NM_018890.3	NP_061485.1:p.(Thr134Asn)	NC_000007.13:g.6441554C>A	VUS	1 lab	42cef13163
13:45149951 TSC22D1 A>C	13	45149951	45149951	A	C	TSC22D1	c.260T>G	NM_183422.3	NP_904358.2:p.(Leu87Arg)	NC_000013.10:g.45149951A>C	VUS	1 lab	42d0c2cf40
17:68172219 KCNJ2 A>C	17	68172219	68172219	A	C	KCNJ2	c.1039A>C	NM_000891.2	NP_000882.1:p.(Thr347Pro)	NC_000017.10:g.68172219A>C	VUS	1 lab	42d3db123e
6:13316902 TBC1D7 G>A	6	13316902	13316902	G	A	TBC1D7	c.420C>T	NM_016495.5	NP_057579.1:p.(Ala140=)	NC_000006.11:g.13316902G>A	(Likely) benign	1 lab	42d4c9df35
4:113568347 LARP7 T>C	4	113568347	113568347	T	C	LARP7	c.668-8T>C	NM_001267039.1	NP_001253968.1:p.?	NC_000004.11:g.113568347T>C	(Likely) benign	1 lab	42d65ce51c
11:6636232 TPP1 T>C	11	6636232	6636232	T	C	TPP1	c.1426-10A>G	NM_000391.3	NP_000382.3:p.?	NC_000011.9:g.6636232T>C	(Likely) benign	1 lab	42d97eaaa1
19:55693238 PTPRH G>A	19	55693238	55693238	G	A	PTPRH	c.3232C>T	NM_002842.5	NP_002833.4:p.(Arg1078Trp)	NC_000019.9:g.55693238G>A	VUS	1 lab	42da86b47a
14:95583959 DICER1 C>T	14	95583959	95583959	C	T	DICER1	c.1509G>A	NM_030621.4	NP_085124.2:p.(Glu503=)	NC_000014.8:g.95583959C>T	VUS	1 lab	42dbdac9da
4:106607893 INTS12 T>C	4	106607893	106607893	T	C	INTS12	c.760A>G	NM_020395.4	NP_065128.2:p.(Lys254Glu)	NC_000004.11:g.106607893T>C	VUS	1 lab	42dbeacffd
20:61340935 NTSR1 A>G	20	61340935	61340935	A	G	NTSR1	c.376A>G	NM_002531.3	NP_002522.2:p.(Asn126Asp)	NC_000020.10:g.61340935A>G	VUS	1 lab	42dd2bd680
9:137630340 COL5A1 G>C	9	137630340	137630340	G	C	COL5A1	c.1410G>C	NM_000093.4	NP_000084.3:p.(Pro470=)	NC_000009.11:g.137630340G>C	(Likely) benign	1 lab	42dddee300
17:79495739 FSCN2 G>T	17	79495739	79495739	G	T	FSCN2	c.182G>T	NM_001077182.2	NP_001070650.1:p.(Arg61Leu)	NC_000017.10:g.79495739G>T	VUS	1 lab	42ded7050c
18:44104776 LOXHD1 C>T	18	44104776	44104776	C	T	LOXHD1	c.4635G>A	NM_144612.6	NP_653213.6:p.(Val1545=)	NC_000018.9:g.44104776C>T	(Likely) benign	1 lab	42e04fc995
2:182521717 CERKL C>A	2	182521717	182521717	C	A	CERKL	c.17G>T	NM_001030311.2	NP_001025482.1:p.(Arg6Leu)	NC_000002.11:g.182521717C>A	VUS	1 lab	42e22997f0
19:55284872 KIR2DL1 T>A	19	55284872	55284872	T	A	KIR2DL1	c.158T>A	NM_014218.2	NP_055033.2:p.(Val53Asp)	NC_000019.9:g.55284872T>A	(Likely) benign	1 lab	42e3404ba2
7:44147638 AEBP1 C>T	7	44147638	44147638	C	T	AEBP1	c.895C>T	NM_001129.4	NP_001120.3:p.(Pro299Ser)	NC_000007.13:g.44147638C>T	(Likely) benign	1 lab	42e387daf7
11:20676310 SLC6A5 C>G	11	20676310	20676310	C	G	SLC6A5	c.2290C>G	NM_004211.4	NP_004202.3:p.(Gln764Glu)	NC_000011.9:g.20676310C>G	(Likely) benign	1 lab	42e3bf2778
11:6662270 DCHS1 C>T	11	6662270	6662270	C	T	DCHS1				NC_000011.9:g.6662270C>T	(Likely) benign	1 lab	9a83cba3d6
16:70897059 HYDIN A>G	16	70897059	70897059	A	G	HYDIN	c.11498T>C	NM_001270974.2	NP_001257903.1:p.(Val3833Ala)	NC_000016.9:g.70897059A>G	VUS	1 lab	42e4d999dd
4:123151370 BLTP1 G>C	4	123151370	123151370	G	C	BLTP1	c.3323+4G>C	NM_015312.3	NP_056127.2:p.?	NC_000004.11:g.123151370G>C	(Likely) benign	1 lab	42e5fa1a81
19:49472767 GYS1 C>A	19	49472767	49472767	C	A	GYS1	c.1992G>T	NM_002103.4	NP_002094.2:p.(Arg664=)	NC_000019.9:g.49472767C>A	(Likely) benign	1 lab	42e6fbef36
X:53272572 IQSEC2 T>C	X	53272572	53272572	T	C	IQSEC2	c.2831A>G	NM_001111125.2	NP_001104595.1:p.(Asn944Ser)	NC_000023.10:g.53272572T>C	(Likely) benign	1 lab	42e86a2461
5:37059056 NIPBL G>A	5	37059056	37059056	G	A	NIPBL	c.7474G>A	NM_015384.4	NP_056199.2:p.(Asp2492Asn)	NC_000005.9:g.37059056G>A	(Likely) benign	1 lab	42eb0c8929
17:1264418 YWHAE G>A	17	1264418	1264418	G	A	YWHAE	c.546C>T	NM_006761.4	NP_006752.1:p.(Tyr182=)	NC_000017.10:g.1264418G>A	(Likely) benign	1 lab	42eb916d01
22:50968078 TYMP C>G	22	50968078	50968078	C	G	TYMP	c.61G>C	NM_001113756.2	NP_001107228.1:p.(Glu21Gln)	NC_000022.10:g.50968078C>G	(Likely) benign	1 lab	42ed5dfa48
X:53440199 SMC1A T>G	X	53440199	53440199	T	G	SMC1A	c.532A>C	NM_001281463.1	NP_001268392.1:p.(Lys178Gln)	NC_000023.10:g.53440199T>G	VUS	1 lab	42ee568b97
17:1582052 PRPF8 T>C	17	1582052	1582052	T	C	PRPF8	c.1719+4A>G	NM_006445.3	NP_006436.3:p.?	NC_000017.10:g.1582052T>C	VUS	1 lab	42f00b5b76
6:71571446 B3GAT2 C>T	6	71571446	71571446	C	T	B3GAT2	c.892G>A	NM_080742.2	NP_542780.1:p.(Val298Met)	NC_000006.11:g.71571446C>T	VUS	1 lab	42f0c9653d
X:54020276 PHF8 G>C	X	54020276	54020276	G	C	PHF8	c.1384C>G	NM_015107.2	NP_055922.1:p.(Pro462Ala)	NC_000023.10:g.54020276G>C	(Likely) benign	1 lab	42f3c09e2a
19:8550914 HNRNPM C>T	19	8550914	8550914	C	T	HNRNPM	c.1602C>T	NM_005968.4	NP_005959.2:p.(Pro534=)	NC_000019.9:g.8550914C>T	(Likely) benign	1 lab	42f3c61bd6
17:18067119 MYO15A A>G	17	18067119	18067119	A	G	MYO15A	c.9754A>G	NM_016239.3	NP_057323.3:p.(Asn3252Asp)	NC_000017.10:g.18067119A>G	(Likely) benign	1 lab	42f40d2b9c
16:88786877 PIEZO1 G>A	16	88786877	88786877	G	A	PIEZO1	c.5865C>T	NM_001142864.4	NP_001136336.2:p.(Arg1955=)	NC_000016.9:g.88786877G>A	(Likely) benign	1 lab	42f4fb541a
19:17008607 MISSING C>G	19	17008607	17008607	C	G	MISSING				NC_000019.9:g.17008607C>G	VUS	1 lab	9f77830222
6:106543549 PRDM1 A>G	6	106543549	106543549	A	G	PRDM1	c.351A>G	NM_001198.4	NP_001189.2:p.(Ile117Met)	NC_000006.11:g.106543549A>G	(Likely) benign	1 lab	ed542cc5a0
17:2579900 PAFAH1B1 C>T	17	2579900	2579900	C	T	PAFAH1B1	c.1002C>T	NM_000430.3	NP_000421.1:p.(Leu334=)	NC_000017.10:g.2579900C>T	(Likely) benign	1 lab	42fb9e71c2
16:53263012 CHD9 C>T	16	53263012	53263012	C	T	CHD9	c.2286C>T	NM_001352127.1	NP_001339056.1:p.(Asp762=)	NC_000016.9:g.53263012C>T	(Likely) benign	1 lab	42fc6d7c63
2:234894416 TRPM8 C>T	2	234894416	234894416	C	T	TRPM8	c.2846C>T	NM_024080.5	NP_076985.4:p.(Pro949Leu)	NC_000002.11:g.234894416C>T	VUS	1 lab	42fe05d984
22:24468452 CABIN1 C>T	22	24468452	24468452	C	T	CABIN1	c.2624C>T	NM_001199281.1	NP_001186210.1:p.(Ala875Val)	NC_000022.10:g.24468452C>T	(Likely) benign	1 lab	4300615167
X:153717037 SLC10A3 G>A	X	153717037	153717037	G	A	SLC10A3	c.243C>T	NM_019848.4	NP_062822.1:p.(Asp81=)	NC_000023.10:g.153717037G>A	(Likely) benign	1 lab	430149dd45
22:32257351 DEPDC5 C>T	22	32257351	32257351	C	T	DEPDC5	c.3265-3C>T	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32257351C>T	(Likely) benign	1 lab	4301ed6655
1:197109002 ASPM C>T	1	197109002	197109002	C	T	ASPM	c.1922-1G>A	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197109002C>T	(Likely) pathogenic	1 lab	ed562ab0a8
17:39969392 FKBP10 C>A	17	39969392	39969392	C	A	FKBP10	c.106C>A	NM_021939.3	NP_068758.3:p.(Pro36Thr)	NC_000017.10:g.39969392C>A	VUS	1 lab	4302f8a15b
X:153132332 L1CAM G>A	X	153132332	153132332	G	A	L1CAM	c.2209-6C>T	NM_000425.4	NP_000416.1:p.?	NC_000023.10:g.153132332G>A	(Likely) benign	1 lab	4303c551a7
8:3855533 CSMD1 G>C	8	3855533	3855533	G	C	CSMD1	c.710C>G	NM_033225.6	NP_150094.5:p.(Thr237Ser)	NC_000008.10:g.3855533G>C	(Likely) benign	1 lab	43042ede3b
14:68250136 ZFYVE26 G>T	14	68250136	68250136	G	T	ZFYVE26	c.3733C>A	NM_015346.3	NP_056161.2:p.(Gln1245Lys)	NC_000014.8:g.68250136G>T	(Likely) benign	1 lab	430476a354
7:4218131 SDK1 C>T	7	4218131	4218131	C	T	SDK1	c.5011C>T	NM_152744.3	NP_689957.3:p.(Arg1671Trp)	NC_000007.13:g.4218131C>T	VUS	1 lab	4307ed7447
X:142718409 SLITRK4 A>G	X	142718409	142718409	A	G	SLITRK4	c.516T>C	NM_001184749.3	NP_001171678.1:p.(Asp172=)	NC_000023.10:g.142718409A>G	(Likely) benign	1 lab	4309c97ad9
17:79478963 ACTG1 A>AG	17	79478963	79478969	A	AG	ACTG1	c.328dup	NM_001199954.2	NP_001186883.1:p.(Leu110ProfsTer16)	NC_000017.10:g.79478969dup	VUS	1 lab	430b99b886
10:95395316 PDE6C G>A	10	95395316	95395316	G	A	PDE6C	c.1332G>A	NM_006204.3	NP_006195.3:p.(Lys444=)	NC_000010.10:g.95395316G>A	(Likely) benign	1 lab	430fc7671a
11:17579832 OTOG G>A	11	17579832	17579832	G	A	OTOG	c.1002G>A	NM_001277269.1	NP_001264198.1:p.(Pro334=)	NC_000011.9:g.17579832G>A	(Likely) benign	1 lab	4312ba8dae
14:102918789 TECPR2 C>A	14	102918789	102918789	C	A	TECPR2	c.3465C>A	NM_014844.4	NP_055659.2:p.(Ser1155Arg)	NC_000014.8:g.102918789C>A	(Likely) benign	1 lab	4314ec7867
8:22436589 PDLIM2 C>T	8	22436589	22436589	C	T	PDLIM2	c.297C>T	NM_021630.5	NP_067643.3:p.(Gly99=)	NC_000008.10:g.22436589C>T	(Likely) benign	1 lab	4315911da4
12:15823797 EPS8 C>T	12	15823797	15823797	C	T	EPS8	c.197G>A	NM_004447.5	NP_004438.3:p.(Arg66His)	NC_000012.11:g.15823797C>T	(Likely) benign	1 lab	4315bf95fa
2:179532373 TTN A>T	2	179532373	179532373	A	T	TTN	c.35621T>A	NM_001267550.1	NP_001254479.1:p.(Leu11874Gln)	NC_000002.11:g.179532373A>T	VUS	1 lab	43162c1ae7
X:47061971 UBA1 G>A	X	47061971	47061971	G	A	UBA1	c.1057-66G>A	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47061971G>A	(Likely) benign	1 lab	ed58b6e4fb
X:49957957 AKAP4 G>A	X	49957957	49957957	G	A	AKAP4	c.1407C>T	NM_003886.2	NP_003877.2:p.(Thr469=)	NC_000023.10:g.49957957G>A	(Likely) benign	1 lab	431b8d5d99
1:197115487 ASPM G>T	1	197115487	197115487	G	T	ASPM	c.81C>A	NM_018136.4	NP_060606.3:p.(Pro27=)	NC_000001.10:g.197115487G>T	(Likely) benign	1 lab	431b9fad91
X:18919674 PHKA2 C>T	X	18919674	18919674	C	T	PHKA2	c.2956G>A	NM_000292.2	NP_000283.1:p.(Glu986Lys)	NC_000023.10:g.18919674C>T	VUS	1 lab	431ca9bc77
12:69113375 NUP107 G>A	12	69113375	69113375	G	A	NUP107	c.1105G>A	NM_001330192.1	NP_001317121.1:p.(Val369Ile)	NC_000012.11:g.69113375G>A	VUS	1 lab	431d1af8ca
14:68249560 ZFYVE26 C>T	14	68249560	68249560	C	T	ZFYVE26	c.4309G>A	NM_015346.3	NP_056161.2:p.(Gly1437Arg)	NC_000014.8:g.68249560C>T	VUS	1 lab	431f1c7105
14:64635613 SYNE2 T>G	14	64635613	64635613	T	G	SYNE2	c.16924T>G	NM_182914.2	NP_878918.2:p.(Ser5642Ala)	NC_000014.8:g.64635613T>G	VUS	1 lab	431f873540
19:51295057 ACP4 A>G	19	51295057	51295057	A	G	ACP4	c.448A>G	NM_033068.2	NP_149059.1:p.(Lys150Glu)	NC_000019.9:g.51295057A>G	VUS	1 lab	4320064c9e
11:66619404 PC G>A	11	66619404	66619404	G	A	PC	c.1839C>T	NM_001040716.1	NP_001035806.1:p.(Asp613=)	NC_000011.9:g.66619404G>A	(Likely) benign	1 lab	4321ef3080
1:243777066 AKT3 G>A	1	243777066	243777066	G	A	AKT3				NC_000001.10:g.243777066G>A	(Likely) benign	1 lab	a0db2e0053
8:48776016 PRKDC T>C	8	48776016	48776016	T	C	PRKDC	c.5694A>G	NM_006904.6	NP_008835.5:p.(Gln1898=)	NC_000008.10:g.48776016T>C	(Likely) benign	1 lab	4324489a1b
2:179519254 TTN T>A	2	179519254	179519254	T	A	TTN	c.38214A>T	NM_001267550.1	NP_001254479.1:p.(Glu12738Asp)	NC_000002.11:g.179519254T>A	VUS	1 lab	4325125127
2:170115626 LRP2 T>C	2	170115626	170115626	T	C	LRP2	c.2422A>G	NM_004525.3	NP_004516.2:p.(Ile808Val)	NC_000002.11:g.170115626T>C	VUS	1 lab	ed637716b3
18:28667779 DSC2 G>A	18	28667779	28667779	G	A	DSC2	c.631-3C>T	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28667779G>A	(Likely) benign	1 lab	ed63be4eb8
14:68252945 ZFYVE26 G>C	14	68252945	68252945	G	C	ZFYVE26	c.3025C>G	NM_015346.3	NP_056161.2:p.(Arg1009Gly)	NC_000014.8:g.68252945G>C	VUS	1 lab	432785b19e
22:17590140 IL17RA G>T	22	17590140	17590140	G	T	IL17RA	c.2031G>T	NM_014339.6	NP_055154.3:p.(Leu677=)	NC_000022.10:g.17590140G>T	(Likely) benign	1 lab	43278a4a8b
1:52847363 ORC1 T>C	1	52847363	52847363	T	C	ORC1	c.2084A>G	NM_004153.3	NP_004144.2:p.(Lys695Arg)	NC_000001.10:g.52847363T>C	(Likely) benign	1 lab	4328906865
3:164737424 SI G>A	3	164737424	164737424	G	A	SI	c.3389C>T	NM_001041.4	NP_001032.2:p.(Thr1130Ile)	NC_000003.11:g.164737424G>A	VUS	1 lab	ed65b02b15
4:619540 PDE6B C>CTGCGA	4	619540	619541	C	CTGCGA	PDE6B	c.125_126insTGCGA	NM_000283.3	NP_000274.2:p.(Asp43AlafsTer109)	NC_000004.11:g.619540_619541insTGCGA	(Likely) pathogenic	1 lab	4329f8ec1a
19:579506 BSG C>T	19	579506	579506	C	T	BSG	c.422C>T	NM_001728.3	NP_001719.2:p.(Thr141Ile)	NC_000019.9:g.579506C>T	VUS	1 lab	432a57d607
9:139836076 FBXW5 C>T	9	139836076	139836076	C	T	FBXW5	c.1157G>A	NM_018998.4	NP_061871.1:p.(Arg386Gln)	NC_000009.11:g.139836076C>T	VUS	1 lab	432b52acbe
7:42188024 GLI3 G>A	7	42188024	42188024	G	A	GLI3	c.168C>T	NM_000168.5	NP_000159.3:p.(Asn56=)	NC_000007.13:g.42188024G>A	(Likely) benign	1 lab	432d219792
11:134132483 ACAD8 G>A	11	134132483	134132483	G	A	ACAD8	c.1162G>A	NM_014384.2	NP_055199.1:p.(Val388Met)	NC_000011.9:g.134132483G>A	(Likely) benign	1 lab	432d68f33d
5:82835998 VCAN C>T	5	82835998	82835998	C	T	VCAN	c.7176C>T	NM_004385.4	NP_004376.2:p.(Asn2392=)	NC_000005.9:g.82835998C>T	(Likely) benign	1 lab	432df35006
12:13906796 GRIN2B G>T	12	13906796	13906796	G	T	GRIN2B	c.465C>A	NM_000834.4	NP_000825.2:p.(Ser155=)	NC_000012.11:g.13906796G>T	(Likely) benign	1 lab	432ec07448
16:15829354 MYH11 C>G	16	15829354	15829354	C	G	MYH11	c.3396G>C	NM_001040113.1	NP_001035202.1:p.(Glu1132Asp)	NC_000016.9:g.15829354C>G	(Likely) benign	1 lab	432f5daf5b
10:115345556 HABP2 AG>A	10	115345556	115345559	AG	A	HABP2	c.1380del	NM_004132.5	NP_004123.1:p.(Ser461ProfsTer11)	NC_000010.10:g.115345559del	VUS	1 lab	ed6bfec10f
16:30380599 TBC1D10B G>T	16	30380599	30380599	G	T	TBC1D10B	c.906C>A	NM_015527.4	NP_056342.3:p.(Arg302=)	NC_000016.9:g.30380599G>T	(Likely) benign	1 lab	4330af3f88
13:20797482 GJB6 G>A	13	20797482	20797482	G	A	GJB6	c.138C>T	NM_006783.4	NP_006774.2:p.(Asp46=)	NC_000013.10:g.20797482G>A	(Likely) benign	1 lab	4333a4d38c
16:88788282 PIEZO1 C>A	16	88788282	88788282	C	A	PIEZO1	c.5148G>T	NM_001142864.4	NP_001136336.2:p.(Leu1716=)	NC_000016.9:g.88788282C>A	(Likely) benign	1 lab	43353cc580
4:56819434 CEP135 C>T	4	56819434	56819434	C	T	CEP135	c.297C>T	NM_025009.4	NP_079285.2:p.(His99=)	NC_000004.11:g.56819434C>T	(Likely) benign	1 lab	4335dfc3eb
1:16451722 EPHA2 C>T	1	16451722	16451722	C	T	EPHA2	c.2919G>A	NM_004431.4	NP_004422.2:p.(Gly973=)	NC_000001.10:g.16451722C>T	(Likely) benign	1 lab	4337aef507
19:4558389 SEMA6B A>G	19	4558389	4558389	A	G	SEMA6B	c.81T>C	NM_032108.4	NP_115484.2:p.(Phe27=)	NC_000019.9:g.4558389A>G	(Likely) benign	1 lab	433bc30145
18:28669515 DSC2 T>C	18	28669515	28669515	T	C	DSC2	c.517A>G	NM_004949.3	NP_004940.1:p.(Ile173Val)	NC_000018.9:g.28669515T>C	VUS	1 lab	433d13d453
6:157099715 ARID1B C>G	6	157099715	157099715	C	G	ARID1B	c.652C>G	NM_020732.3	NP_065783.3:p.(Pro218Ala)	NC_000006.11:g.157099715C>G	VUS	1 lab	433da4ce2c
X:3242476 MXRA5 T>A	X	3242476	3242476	T	A	MXRA5	c.1250A>T	NM_015419.4	NP_056234.2:p.(Tyr417Phe)	NC_000023.10:g.3242476T>A	VUS	1 lab	ed6e64c165
X:140270865 LDOC1 G>A	X	140270865	140270865	G	A	LDOC1	c.342C>T	NM_012317.3	NP_036449.1:p.(Ile114=)	NC_000023.10:g.140270865G>A	(Likely) benign	1 lab	43404f18ea
16:89842143 FANCA A>T	16	89842143	89842143	A	T	FANCA	c.1900+7T>A	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89842143A>T	(Likely) benign	1 lab	4340af482a
1:5925220 NPHP4 C>T	1	5925220	5925220	C	T	NPHP4	c.3758G>A	NM_015102.4	NP_055917.1:p.(Arg1253Gln)	NC_000001.10:g.5925220C>T	VUS	1 lab	4341291b4f
6:36569549 SRSF3 C>T	6	36569549	36569549	C	T	SRSF3	c.445C>T	NM_003017.5	NP_003008.1:p.(Arg149Ter)	NC_000006.11:g.36569549C>T	VUS	1 lab	4341f4dd5b
13:48939110 RB1 A>G	13	48939110	48939110	A	G	RB1	c.939+3A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48939110A>G	VUS	1 lab	f296399a2e
13:76169058 UCHL3 G>A	13	76169058	76169058	G	A	UCHL3	c.374G>A	NM_001270952.1	NP_001257881.1:p.(Ser125Asn)	NC_000013.10:g.76169058G>A	(Likely) benign	1 lab	434289050f
22:51143197 MISSING G>A	22	51143197	51143197	G	A	MISSING				NC_000022.10:g.51143197G>A	(Likely) benign	1 lab	434401f73c
8:100729589 VPS13B A>C	8	100729589	100729589	A	C	VPS13B	c.6720A>C	NM_017890.4	NP_060360.3:p.(Gly2240=)	NC_000008.10:g.100729589A>C	(Likely) benign	1 lab	4345777475
17:29482999 NF1 A>G	17	29482999	29482999	A	G	NF1	c.61-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29482999A>G	(Likely) pathogenic	1 lab	43459b5d7a
X:48781219 OTUD5 C>G	X	48781219	48781219	C	G	OTUD5	c.1389G>C	NM_017602.3	NP_060072.1:p.(Glu463Asp)	NC_000023.10:g.48781219C>G	(Likely) benign	1 lab	4346b07331
22:20041014 TANGO2 A>G	22	20041014	20041014	A	G	TANGO2	c.443A>G	NM_001322141.1	NP_001309070.1:p.(Lys148Arg)	NC_000022.10:g.20041014A>G	VUS	1 lab	434801e3e5
1:1420486 ATAD3B A>G	1	1420486	1420486	A	G	ATAD3B	c.841A>G	NM_031921.5	NP_114127.3:p.(Lys281Glu)	NC_000001.10:g.1420486A>G	VUS	1 lab	434bfb6b79
11:121490488 SORL1 G>A	11	121490488	121490488	G	A	SORL1	c.5751G>A	NM_003105.5	NP_003096.1:p.(Gly1917=)	NC_000011.9:g.121490488G>A	(Likely) benign	1 lab	434cd479ec
1:12389931 VPS13D C>T	1	12389931	12389931	C	T	VPS13D	c.8243C>T	NM_015378.4	NP_056193.2:p.(Ala2748Val)	NC_000001.10:g.12389931C>T	VUS	1 lab	ed70e5a509
17:44087711 MAPT C>T	17	44087711	44087711	C	T	MAPT	c.858C>T	NM_005910.5	NP_005901.2:p.(Asn286=)	NC_000017.10:g.44087711C>T	(Likely) benign	1 lab	434d7041a2
3:38051487 PLCD1 G>A	3	38051487	38051487	G	A	PLCD1	c.1258C>T	NM_001130964.1	NP_001124436.1:p.(Arg420Cys)	NC_000003.11:g.38051487G>A	VUS	1 lab	434d73c6d5
14:76211445 TTLL5 G>A	14	76211445	76211445	G	A	TTLL5	c.1289G>A	NM_015072.4	NP_055887.3:p.(Arg430His)	NC_000014.8:g.76211445G>A	VUS	1 lab	4351b9c75d
9:14909910 FREM1 A>T	9	14909910	14909910	A	T	FREM1	c.-268+2T>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14909910A>T	VUS	1 lab	44513823bb
7:107569936 LAMB1 G>C	7	107569936	107569936	G	C	LAMB1	c.4666C>G	NM_002291.2	NP_002282.2:p.(Gln1556Glu)	NC_000007.13:g.107569936G>C	VUS	1 lab	4354f07296
1:152186802 HRNR T>C	1	152186802	152186802	T	C	HRNR	c.7303A>G	NM_001009931.2	NP_001009931.1:p.(Ser2435Gly)	NC_000001.10:g.152186802T>C	(Likely) benign	1 lab	43556372c6
7:21826316 DNAH11 C>T	7	21826316	21826316	C	T	DNAH11				NC_000007.13:g.21826316C>T	(Likely) benign	1 lab	4356cbfe1a
17:78092551 GAA G>T	17	78092551	78092551	G	T	GAA	c.2746G>T	NM_000152.3	NP_000143.2:p.(Val916Phe)	NC_000017.10:g.78092551G>T	(Likely) pathogenic	1 lab	4357e6e2be
20:33589742 MYH7B T>TGC	20	33589742	33589744	T	TGC	MYH7B	c.5803-8_5803-7dup	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33589743_33589744dup	(Likely) benign	1 lab	435814ba00
2:179460557 TTN A>T	2	179460557	179460557	A	T	TTN	c.57545-21T>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179460557A>T	(Likely) benign	1 lab	4358ac92cd
10:94392314 KIF11 A>T	10	94392314	94392314	A	T	KIF11	c.1566A>T	NM_004523.3	NP_004514.2:p.(Ala522=)	NC_000010.10:g.94392314A>T	(Likely) benign	1 lab	4359e241ff
6:105232916 HACE1 C>T	6	105232916	105232916	C	T	HACE1	c.1353G>A	NM_020771.3	NP_065822.2:p.(Arg451=)	NC_000006.11:g.105232916C>T	(Likely) benign	1 lab	435a35bae5
7:155592835 SHH C>T	7	155592835	155592835	C	T	SHH	c.406G>A	NM_001310462.1	NP_001297391.1:p.(Gly136Arg)	NC_000007.13:g.155592835C>T	(Likely) benign	1 lab	435b497a1e
10:102770304 PDZD7 C>CGGCTGA	10	102770304	102770310	C	CGGCTGA	PDZD7	c.2341_2342insTCAGCC	NM_001195263.1	NP_001182192.1:p.(Ser780_Arg781insLeuSer)	NC_000010.10:g.102770309_102770310insAGGCTG	VUS	1 lab	435b7baed4
7:117175443 CFTR G>A	7	117175443	117175443	G	A	CFTR	c.721G>A	NM_000492.4	NP_000483.3:p.(Gly241Arg)	NC_000007.13:g.117175443G>A	VUS	1 lab	ed76e0913c
5:39315911 C9 G>C	5	39315911	39315911	G	C	C9	c.836C>G	NM_001737.3	NP_001728.1:p.(Thr279Ser)	NC_000005.9:g.39315911G>C	(Likely) benign	1 lab	435dff16fe
7:4839879 RADIL C>G	7	4839879	4839879	C	G	RADIL	c.2905G>C	NM_018059.4	NP_060529.4:p.(Glu969Gln)	NC_000007.13:g.4839879C>G	VUS	1 lab	435e2ef957
1:209795896 LAMB3 G>A	1	209795896	209795896	G	A	LAMB3	c.2686C>T	NM_001017402.1	NP_001017402.1:p.(Arg896Trp)	NC_000001.10:g.209795896G>A	VUS	1 lab	435f301e8b
X:101857876 ARMCX5 T>G	X	101857876	101857876	T	G	ARMCX5	c.807T>G	NM_001168479.1	NP_001161951.1:p.(Pro269=)	NC_000023.10:g.101857876T>G	(Likely) benign	1 lab	4360de8373
5:13841179 DNAH5 C>T	5	13841179	13841179	C	T	DNAH5	c.5545G>A	NM_001369.2	NP_001360.1:p.(Ala1849Thr)	NC_000005.9:g.13841179C>T	VUS	1 lab	43615c1aba
12:120306905 CIT G>A	12	120306905	120306905	G	A	CIT	c.197C>T	NM_001206999.1	NP_001193928.1:p.(Ala66Val)	NC_000012.11:g.120306905G>A	VUS	1 lab	4361cbb957
7:117231856 CFTR A>G	7	117231856	117231856	A	G	CFTR	c.1767-132A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117231856A>G	(Likely) benign	1 lab	43628da994
6:161152841 PLG A>G	6	161152841	161152841	A	G	PLG	c.1503A>G	NM_000301.3	NP_000292.1:p.(Pro501=)	NC_000006.11:g.161152841A>G	(Likely) benign	1 lab	43640e1b53
1:24495976 IFNLR1 C>T	1	24495976	24495976	C	T	IFNLR1	c.298G>A	NM_170743.4	NP_734464.1:p.(Val100Met)	NC_000001.10:g.24495976C>T	VUS	1 lab	43644c39c6
2:179440333 TTN A>C	2	179440333	179440333	A	C	TTN	c.70526T>G	NM_001267550.1	NP_001254479.1:p.(Val23509Gly)	NC_000002.11:g.179440333A>C	VUS	1 lab	436529ab1a
22:46761573 CELSR1 G>T	22	46761573	46761573	G	T	CELSR1	c.8314C>A	NM_014246.1	NP_055061.1:p.(Gln2772Lys)	NC_000022.10:g.46761573G>T	(Likely) benign	1 lab	4365950c6d
2:179485107 TTN C>A	2	179485107	179485107	C	A	TTN	c.46141G>T	NM_001267550.1	NP_001254479.1:p.(Val15381Phe)	NC_000002.11:g.179485107C>A	VUS	1 lab	436784dc7a
2:56098141 EFEMP1 G>A	2	56098141	56098141	G	A	EFEMP1	c.1118C>T	NM_001039348.2	NP_001034437.1:p.(Pro373Leu)	NC_000002.11:g.56098141G>A	VUS	1 lab	43684a7721
16:90001500 TUBB3 C>A	16	90001500	90001500	C	A	TUBB3	c.641C>A	NM_006086.4	NP_006077.2:p.(Thr214Asn)	NC_000016.9:g.90001500C>A	VUS	1 lab	4368e65d57
11:86666081 FZD4 C>T	11	86666081	86666081	C	T	FZD4	c.47G>A	NM_012193.3	NP_036325.2:p.(Gly16Asp)	NC_000011.9:g.86666081C>T	VUS	1 lab	4368ff8053
20:30954295 ASXL1 A>G	20	30954295	30954295	A	G	ASXL1	c.140+26A>G	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.30954295A>G	(Likely) benign	1 lab	43698189d5
7:127257427 PAX4 ACAGATTGGCATTGCCACAAGTCAGGGGCTGTCCAGAGAGTAAAATTCAAGGTTTAGAAGC>A	7	127257427	127257490	ACAGATTGGCATTGCCACAAGTCAGGGGCTGTCCAGAGAGTAAAATTCAAGGTTTAGAAGC	A	PAX4	c.-225-33_-199del	NM_001366110.1	NP_001353039.1:p.?	NC_000007.13:g.127257431_127257490del	VUS	1 lab	ed77dc1d4a
X:152159038 PNMA5 C>T	X	152159038	152159038	C	T	PNMA5	c.1105G>A	NM_001103150.1	NP_001096620.1:p.(Val369Met)	NC_000023.10:g.152159038C>T	(Likely) benign	1 lab	436cd14f3f
X:71813109 PHKA1 T>C	X	71813109	71813109	T	C	PHKA1	c.3088A>G	NM_002637.3	NP_002628.2:p.(Met1030Val)	NC_000023.10:g.71813109T>C	(Likely) benign	1 lab	436df506b5
1:228399572 OBSCN A>G	1	228399572	228399572	A	G	OBSCN	c.88A>G	NM_001271223.2	NP_001258152.2:p.(Ser30Gly)	NC_000001.10:g.228399572A>G	VUS	1 lab	437191d029
17:74473078 RHBDF2 C>T	17	74473078	74473078	C	T	RHBDF2	c.1036G>A	NM_024599.5	NP_078875.4:p.(Gly346Arg)	NC_000017.10:g.74473078C>T	(Likely) benign	1 lab	437251b006
1:236142318 NID1 G>A	1	236142318	236142318	G	A	NID1	c.3599C>T	NM_002508.2	NP_002499.2:p.(Thr1200Met)	NC_000001.10:g.236142318G>A	VUS	1 lab	4374cc2c72
1:161139489 PPOX A>AT	1	161139489	161139491	A	AT	PPOX	c.849dup	NM_000309.4	NP_000300.1:p.(Ser284Ter)	NC_000001.10:g.161139491dup	(Likely) pathogenic	1 lab	4374ce3750
18:72343292 ZNF407 T>A	18	72343292	72343292	T	A	ZNF407	c.317T>A	NM_017757.2	NP_060227.2:p.(Ile106Asn)	NC_000018.9:g.72343292T>A	(Likely) benign	1 lab	4375067e73
8:65500320 CYP7B1 C>T	8	65500320	65500320	C	T	CYP7B1	c.1313G>A	NM_001324112.1	NP_001311041.1:p.(Arg438Lys)	NC_000008.10:g.65500320C>T	(Likely) benign	1 lab	4375c05cf6
X:135732562 CD40LG C>T	X	135732562	135732562	C	T	CD40LG	c.288+6C>T	NM_000074.2	NP_000065.1:p.?	NC_000023.10:g.135732562C>T	(Likely) benign	1 lab	43767937e2
1:240635747 FMN2 T>G	1	240635747	240635747	T	G	FMN2	c.5136T>G	NM_020066.5	NP_064450.3:p.(Ser1712=)	NC_000001.10:g.240635747T>G	(Likely) benign	1 lab	43775f2cae
9:2651454 VLDLR C>T	9	2651454	2651454	C	T	VLDLR	c.2291C>T	NM_003383.4	NP_003374.3:p.(Thr764Met)	NC_000009.11:g.2651454C>T	(Likely) benign	1 lab	4377777281
3:183017837 MCF2L2 C>T	3	183017837	183017837	C	T	MCF2L2	c.1261G>A	NM_015078.3	NP_055893.3:p.(Asp421Asn)	NC_000003.11:g.183017837C>T	VUS	1 lab	4379903042
X:78618630 ITM2A T>C	X	78618630	78618630	T	C	ITM2A	c.250A>G	NM_004867.4	NP_004858.1:p.(Ile84Val)	NC_000023.10:g.78618630T>C	(Likely) benign	1 lab	437a21c861
12:13720119 GRIN2B A>G	12	13720119	13720119	A	G	GRIN2B	c.2438T>C	NM_000834.4	NP_000825.2:p.(Leu813Pro)	NC_000012.11:g.13720119A>G	VUS	1 lab	437a7e537c
5:13845106 DNAH5 CA>TG	5	13845106	13845107	CA	TG	DNAH5	c.5115-5_5115-4inv	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13845106_13845107inv	(Likely) benign	1 lab	437b91fd3b
17:29654746 NF1 T>C	17	29654746	29654746	T	C	NF1	c.5435T>C	NM_000267.3	NP_000258.1:p.(Leu1812Pro)	NC_000017.10:g.29654746T>C	(Likely) pathogenic	1 lab	437c67a418
15:85345352 ZNF592 G>T	15	85345352	85345352	G	T	ZNF592	c.3532G>T	NM_014630.2	NP_055445.2:p.(Val1178Leu)	NC_000015.9:g.85345352G>T	VUS	1 lab	437f15d7ae
18:6859880 ARHGAP28 C>T	18	6859880	6859880	C	T	ARHGAP28	c.710C>T	NM_001366230.1	NP_001353159.1:p.(Pro237Leu)	NC_000018.9:g.6859880C>T	(Likely) benign	1 lab	437fab69fb
12:39734066 KIF21A T>G	12	39734066	39734066	T	G	KIF21A	c.2211A>C	NM_001173464.1	NP_001166935.1:p.(Ala737=)	NC_000012.11:g.39734066T>G	(Likely) benign	1 lab	438025a440
1:11826718 C1orf167 C>T	1	11826718	11826718	C	T	C1orf167	c.875C>T	NM_001010881.1	NP_001010881.1:p.(Ser292Leu)	NC_000001.10:g.11826718C>T	(Likely) benign	1 lab	43806cfca0
17:79503262 FSCN2 T>A	17	79503262	79503262	T	A	FSCN2	c.1074T>A	NM_001077182.2	NP_001070650.1:p.(Asn358Lys)	NC_000017.10:g.79503262T>A	VUS	1 lab	4380ff005f
22:26864581 HPS4 C>A	22	26864581	26864581	C	A	HPS4	c.605G>T	NM_001349898.1	NP_001336827.1:p.(Ser202Ile)	NC_000022.10:g.26864581C>A	VUS	1 lab	4382da6b6b
6:31678188 LY6G6F C>G	6	31678188	31678188	C	G	LY6G6F	c.862C>G	NM_001003693.2	NP_001003693.1:p.(Arg288Gly)	NC_000006.11:g.31678188C>G	VUS	1 lab	4383456aa5
18:29126393 DSG2 T>C	18	29126393	29126393	T	C	DSG2	c.3044T>C	NM_001943.3	NP_001934.2:p.(Met1015Thr)	NC_000018.9:g.29126393T>C	VUS	1 lab	4383f89cd4
7:91865794 KRIT1 G>A	7	91865794	91865794	G	A	KRIT1	c.418C>T	NM_004912.4	NP_004903.2:p.(Arg140Ter)	NC_000007.13:g.91865794G>A	(Likely) pathogenic	1 lab	43840c6ea5
1:197398248 CRB1 C>T	1	197398248	197398248	C	T	CRB1	c.2604+10C>T	NM_001257965.1	NP_001244894.1:p.?	NC_000001.10:g.197398248C>T	(Likely) benign	1 lab	43845301af
4:187005224 TLR3 C>T	4	187005224	187005224	C	T	TLR3	c.2384C>T	NM_003265.2	NP_003256.1:p.(Ala795Val)	NC_000004.11:g.187005224C>T	VUS	1 lab	438482a3bd
X:110497620 CAPN6 A>G	X	110497620	110497620	A	G	CAPN6	c.177T>C	NM_014289.3	NP_055104.2:p.(Asp59=)	NC_000023.10:g.110497620A>G	(Likely) benign	1 lab	43853fe593
X:102974056 GLRA4 C>T	X	102974056	102974056	C	T	GLRA4	c.862G>A	NM_001172285.1	NP_001165756.1:p.(Val288Met)	NC_000023.10:g.102974056C>T	VUS	1 lab	43865708d0
X:153577365 FLNA G>T	X	153577365	153577365	G	T	FLNA	c.7796C>A	NM_001110556.2	NP_001104026.1:p.(Thr2599Asn)	NC_000023.10:g.153577365G>T	VUS	1 lab	4387739edb
6:70970381 COL9A1 T>C	6	70970381	70970381	T	C	COL9A1	c.1428A>G	NM_001851.4	NP_001842.3:p.(Ile476Met)	NC_000006.11:g.70970381T>C	VUS	1 lab	4387ba6423
17:26653677 TMEM97 A>AG	17	26653677	26653680	A	AG	TMEM97	c.392dup	NM_014573.3	NP_055388.2:p.(Gln132ThrfsTer4)	NC_000017.10:g.26653680dup	VUS	1 lab	438839df96
18:2891846 EMILIN2 G>A	18	2891846	2891846	G	A	EMILIN2	c.1721G>A	NM_032048.3	NP_114437.2:p.(Arg574His)	NC_000018.9:g.2891846G>A	(Likely) benign	1 lab	4389f8d0c8
1:22154364 HSPG2 C>A	1	22154364	22154364	C	A	HSPG2	c.12584G>T	NM_001291860.1	NP_001278789.1:p.(Gly4195Val)	NC_000001.10:g.22154364C>A	VUS	1 lab	438baa3c7e
X:153689828 PLXNA3 G>A	X	153689828	153689828	G	A	PLXNA3	c.984G>A	NM_017514.4	NP_059984.3:p.(Arg328=)	NC_000023.10:g.153689828G>A	(Likely) benign	1 lab	438cc72756
16:68713880 CDH3 G>T	16	68713880	68713880	G	T	CDH3	c.867+3G>T	NM_001317195.1	NP_001304124.1:p.?	NC_000016.9:g.68713880G>T	(Likely) benign	1 lab	438e6c0a3e
7:21789431 DNAH11 A>G	7	21789431	21789431	A	G	DNAH11				NC_000007.13:g.21789431A>G	(Likely) benign	1 lab	445aa6923b
15:25584336 UBE3A T>TTAAG	15	25584336	25584341	T	TTAAG	UBE3A	c.2503_2506dup	NM_130838.1	NP_570853.1:p.(Lys836ThrfsTer2)	NC_000015.9:g.25584338_25584341dup	(Likely) pathogenic	1 lab	439239470d
15:101445793 ALDH1A3 G>A	15	101445793	101445793	G	A	ALDH1A3	c.1134G>A	NM_000693.3	NP_000684.2:p.(Lys378=)	NC_000015.9:g.101445793G>A	(Likely) benign	1 lab	43936f7217
15:43818756 MAP1A A>T	15	43818756	43818756	A	T	MAP1A	c.5085A>T	NM_002373.6	NP_002364.5:p.(Thr1695=)	NC_000015.9:g.43818756A>T	(Likely) benign	1 lab	439436deba
1:237617694 RYR2 C>T	1	237617694	237617694	C	T	RYR2	c.1296C>T	NM_001035.2	NP_001026.2:p.(Gly432=)	NC_000001.10:g.237617694C>T	(Likely) benign	1 lab	4394e91857
4:119237480 PRSS12 T>G	4	119237480	119237480	T	G	PRSS12	c.1151-2A>C	NM_003619.3	NP_003610.2:p.?	NC_000004.11:g.119237480T>G	VUS	1 lab	4395919813
14:105417094 AHNAK2 G>T	14	105417094	105417094	G	T	AHNAK2	c.4694C>A	NM_138420.3	NP_612429.2:p.(Pro1565His)	NC_000014.8:g.105417094G>T	(Likely) benign	1 lab	43960a3993
17:7496411 FXR2 G>A	17	7496411	7496411	G	A	FXR2	c.1419C>T	NM_004860.3	NP_004851.2:p.(Pro473=)	NC_000017.10:g.7496411G>A	(Likely) benign	1 lab	43960c7e57
6:24503658 ALDH5A1 C>A	6	24503658	24503658	C	A	ALDH5A1	c.606C>A	NM_170740.1	NP_733936.1:p.(Thr202=)	NC_000006.11:g.24503658C>A	(Likely) benign	1 lab	4397c239b8
1:197313467 CRB1 G>C	1	197313467	197313467	G	C	CRB1	c.502G>C	NM_001257965.1	NP_001244894.1:p.(Ala168Pro)	NC_000001.10:g.197313467G>C	VUS	1 lab	4397e20b88
1:156108366 LMNA G>A	1	156108366	156108366	G	A	LMNA				NC_000001.10:g.156108366G>A	(Likely) benign	1 lab	ad272fc037
X:88008645 CPXCR1 A>G	X	88008645	88008645	A	G	CPXCR1	c.230A>G	NM_033048.5	NP_149037.4:p.(Gln77Arg)	NC_000023.10:g.88008645A>G	(Likely) benign	1 lab	4398712dc1
16:2134951 TSC2 G>C	16	2134951	2134951	G	C	TSC2	c.4494-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2134951G>C	(Likely) pathogenic	1 lab	439af79f83
7:99809499 STAG3 G>A	7	99809499	99809499	G	A	STAG3	c.3600G>A	NM_001282717.1	NP_001269646.1:p.(Met1200Ile)	NC_000007.13:g.99809499G>A	VUS	1 lab	439dc1cded
8:145738370 RECQL4 C>T	8	145738370	145738370	C	T	RECQL4	c.2615G>A	NM_004260.3	NP_004251.3:p.(Arg872Lys)	NC_000008.10:g.145738370C>T	(Likely) benign	1 lab	439e2eca5e
21:34003715 SYNJ1 T>C	21	34003715	34003715	T	C	SYNJ1	c.4429A>G	NM_003895.3	NP_003886.3:p.(Ile1477Val)	NC_000021.8:g.34003715T>C	(Likely) benign	1 lab	43a203f25b
13:25473691 CPAP C>T	13	25473691	25473691	C	T	CPAP	c.2857G>A	NM_018451.4	NP_060921.3:p.(Ala953Thr)	NC_000013.10:g.25473691C>T	VUS	1 lab	43a2fa28dd
16:2138455 TSC2 G>GGA	16	2138455	2138457	G	GGA	TSC2	c.5269_5270dup	NM_000548.3	NP_000539.2:p.(Ala1758LysfsTer69)	NC_000016.9:g.2138456_2138457dup	(Likely) pathogenic	1 lab	43a3a9d9be
9:117266853 WHRN T>A	9	117266853	117266853	T	A	WHRN	c.229A>T	NM_015404.3	NP_056219.3:p.(Thr77Ser)	NC_000009.11:g.117266853T>A	(Likely) benign	1 lab	43a5d5acad
8:70536172 SULF1 TC>T	8	70536172	70536173	TC	T	SULF1	c.1595-4del	NM_001128205.2	NP_001121677.1:p.?	NC_000008.10:g.70536173del	(Likely) benign	1 lab	ed880ab197
3:97591398 CRYBG3 A>G	3	97591398	97591398	A	G	CRYBG3	c.1360A>G	NM_153605.4	NP_705833.3:p.(Asn454Asp)	NC_000003.11:g.97591398A>G	(Likely) benign	1 lab	43a8f8fa86
7:99704487 AP4M1 C>T	7	99704487	99704487	C	T	AP4M1	c.1344C>T	NM_004722.3	NP_004713.2:p.(Ala448=)	NC_000007.13:g.99704487C>T	(Likely) benign	1 lab	43a970a883
15:43678512 TUBGCP4 G>A	15	43678512	43678512	G	A	TUBGCP4	c.998G>A	NM_001286414.2	NP_001273343.1:p.(Arg333His)	NC_000015.9:g.43678512G>A	VUS	1 lab	43aab0de8b
22:37891779 CARD10 G>A	22	37891779	37891779	G	A	CARD10	c.2291C>T	NM_014550.4	NP_055365.2:p.(Pro764Leu)	NC_000022.10:g.37891779G>A	VUS	1 lab	43ab62aa21
8:29989993 MBOAT4 G>C	8	29989993	29989993	G	C	MBOAT4	c.774C>G	NM_001100916.1	NP_001094386.1:p.(His258Gln)	NC_000008.10:g.29989993G>C	(Likely) benign	1 lab	43ab7fe6a0
1:225609833 LBR G>A	1	225609833	225609833	G	A	LBR	c.312C>T	NM_194442.2	NP_919424.1:p.(Ala104=)	NC_000001.10:g.225609833G>A	(Likely) benign	1 lab	43abbfd030
1:236205412 NID1 C>T	1	236205412	236205412	C	T	NID1	c.933G>A	NM_002508.2	NP_002499.2:p.(Thr311=)	NC_000001.10:g.236205412C>T	(Likely) benign	1 lab	43adf7b3cc
20:32345049 ZNF341 C>T	20	32345049	32345049	C	T	ZNF341	c.837C>T	NM_001282933.1	NP_001269862.1:p.(Ala279=)	NC_000020.10:g.32345049C>T	(Likely) benign	1 lab	43afd18575
3:148905968 CP A>G	3	148905968	148905968	A	G	CP	c.1735T>C	NM_000096.3	NP_000087.1:p.(Tyr579His)	NC_000003.11:g.148905968A>G	(Likely) benign	1 lab	43b00de3e6
16:72991931 ZFHX3 T>C	16	72991931	72991931	T	C	ZFHX3	c.2114A>G	NM_006885.3	NP_008816.3:p.(Lys705Arg)	NC_000016.9:g.72991931T>C	VUS	1 lab	43b0334534
12:53183840 KRT3 G>T	12	53183840	53183840	G	T	KRT3	c.1873C>A	NM_057088.2	NP_476429.2:p.(Arg625Ser)	NC_000012.11:g.53183840G>T	VUS	1 lab	43b0bd04b0
3:48607324 COL7A1 G>A	3	48607324	48607324	G	A	COL7A1	c.7510C>T	NM_000094.3	NP_000085.1:p.(Arg2504Cys)	NC_000003.11:g.48607324G>A	VUS	1 lab	43b6d04ec3
X:73749083 SLC16A2 G>C	X	73749083	73749083	G	C	SLC16A2	c.1206G>C	NM_006517.4	NP_006508.2:p.(Met402Ile)	NC_000023.10:g.73749083G>C	(Likely) benign	1 lab	43b6fe5173
5:1466912 LPCAT1 C>T	5	1466912	1466912	C	T	LPCAT1	c.1372G>A	NM_024830.4	NP_079106.3:p.(Asp458Asn)	NC_000005.9:g.1466912C>T	(Likely) benign	1 lab	43b7487646
2:183619786 MISSING G>T	2	183619786	183619786	G	T	MISSING				NC_000002.11:g.183619786G>T	VUS	1 lab	43ba4d3cb0
6:16306751 ATXN1 G>A	6	16306751	16306751	G	A	ATXN1	c.2257C>T	NM_000332.3	NP_000323.2:p.(Pro753Ser)	NC_000006.11:g.16306751G>A	(Likely) benign	1 lab	ed8986b508
5:138456729 SIL1 T>C	5	138456729	138456729	T	C	SIL1	c.239A>G	NM_001037633.1	NP_001032722.1:p.(Gln80Arg)	NC_000005.9:g.138456729T>C	VUS	1 lab	43bbebe8a0
1:185970472 HMCN1 C>T	1	185970472	185970472	C	T	HMCN1	c.4112C>T	NM_031935.2	NP_114141.2:p.(Ser1371Leu)	NC_000001.10:g.185970472C>T	VUS	1 lab	43bc38fda7
11:45827434 SLC35C1 G>A	11	45827434	45827434	G	A	SLC35C1	c.82G>A	NM_018389.4	NP_060859.4:p.(Ala28Thr)	NC_000011.9:g.45827434G>A	(Likely) benign	1 lab	43be649bf6
11:68548217 CPT1A C>T	11	68548217	68548217	C	T	CPT1A	c.1353-4G>A	NM_001876.4	NP_001867.2:p.?	NC_000011.9:g.68548217C>T	(Likely) benign	1 lab	ed8fd070ae
3:155546080 SLC33A1 A>G	3	155546080	155546080	A	G	SLC33A1	c.1569T>C	NM_004733.3	NP_004724.1:p.(Gly523=)	NC_000003.11:g.155546080A>G	(Likely) benign	1 lab	43c0784d50
1:110172478 AMPD2 C>T	1	110172478	110172478	C	T	AMPD2	c.2085C>T	NM_001257360.1	NP_001244289.1:p.(His695=)	NC_000001.10:g.110172478C>T	(Likely) benign	1 lab	43c106f5b9
X:96173581 DIAPH2 G>C	X	96173581	96173581	G	C	DIAPH2	c.943G>C	NM_006729.4	NP_006720.1:p.(Glu315Gln)	NC_000023.10:g.96173581G>C	VUS	1 lab	43c19da634
11:67020223 KDM2A C>T	11	67020223	67020223	C	T	KDM2A	c.2827C>T	NM_012308.3	NP_036440.1:p.(Pro943Ser)	NC_000011.9:g.67020223C>T	VUS	1 lab	43c5124b88
8:144995712 PLEC C>T	8	144995712	144995712	C	T	PLEC	c.8688G>A	NM_201380.3	NP_958782.1:p.(Val2896=)	NC_000008.10:g.144995712C>T	(Likely) benign	1 lab	43c55ad3e5
2:179542438 TTN C>T	2	179542438	179542438	C	T	TTN	c.34201G>A	NM_001267550.1	NP_001254479.1:p.(Glu11401Lys)	NC_000002.11:g.179542438C>T	(Likely) benign	1 lab	43c69e1c3b
17:12666691 MYOCD C>A	17	12666691	12666691	C	A	MYOCD	c.2691C>A	NM_001146312.2	NP_001139784.1:p.(Asp897Glu)	NC_000017.10:g.12666691C>A	(Likely) benign	1 lab	43c6f7ce1c
X:153219226 HCFC1 G>C	X	153219226	153219226	G	C	HCFC1	c.4334-5C>G	NM_005334.2	NP_005325.2:p.?	NC_000023.10:g.153219226G>C	VUS	1 lab	43c774e198
X:129208081 ELF4 C>T	X	129208081	129208081	C	T	ELF4	c.283G>A	NM_001421.3	NP_001412.1:p.(Ala95Thr)	NC_000023.10:g.129208081C>T	(Likely) benign	1 lab	43c8110354
X:153461483 OPN1MW C>T	X	153461483	153461483	C	T	OPN1MW	c.1047C>T	NM_000513.2	NP_000504.1:p.(Ser349=)	NC_000023.10:g.153461483C>T	(Likely) benign	1 lab	43ca9b036f
2:128030506 ERCC3 C>A	2	128030506	128030506	C	A	ERCC3	c.1570G>T	NM_001303418.1	NP_001290347.1:p.(Glu524Ter)	NC_000002.11:g.128030506C>A	(Likely) pathogenic	1 lab	43cde00511
16:89346211 ANKRD11 C>CT	16	89346211	89346212	C	CT	ANKRD11	c.6738dup	NM_001256182.1	NP_001243111.1:p.(Glu2247ArgfsTer13)	NC_000016.9:g.89346212dup	(Likely) pathogenic	1 lab	43d0054305
1:38260117 MANEAL C>A	1	38260117	38260117	C	A	MANEAL	c.263C>A	NM_001113482.1	NP_001106954.1:p.(Pro88His)	NC_000001.10:g.38260117C>A	VUS	1 lab	43d10de03d
1:160178408 PEA15 G>A	1	160178408	160178408	G	A	PEA15	c.14G>A	NM_001297576.1	NP_001284505.1:p.(Gly5Glu)	NC_000001.10:g.160178408G>A	(Likely) benign	1 lab	43d1d1cd34
11:117209312 CEP164 C>T	11	117209312	117209312	C	T	CEP164	c.10C>T	NM_014956.4	NP_055771.4:p.(Arg4Ter)	NC_000011.9:g.117209312C>T	VUS	1 lab	43d25dd2e6
7:75616507 TMEM120A C>T	7	75616507	75616507	C	T	TMEM120A	c.1015G>A	NM_031925.3	NP_114131.1:p.(Gly339Arg)	NC_000007.13:g.75616507C>T	(Likely) benign	1 lab	43d3d872e2
18:51013310 DCC G>A	18	51013310	51013310	G	A	DCC	c.3880G>A	NM_005215.3	NP_005206.2:p.(Gly1294Arg)	NC_000018.9:g.51013310G>A	VUS	1 lab	43d457c550
15:89871733 POLG C>T	15	89871733	89871733	C	T	POLG	c.1204G>A	NM_002693.2	NP_002684.1:p.(Ala402Thr)	NC_000015.9:g.89871733C>T	VUS	1 lab	43d8efcfb9
12:91558500 DCN A>G	12	91558500	91558500	A	G	DCN	c.212-6T>C	NM_001920.4	NP_001911.1:p.?	NC_000012.11:g.91558500A>G	(Likely) benign	1 lab	43da5ebf91
X:24329896 SUPT20HL2 C>CAGCAGGAGCAGG	X	24329896	24329925	C	CAGCAGGAGCAGG	SUPT20HL2	c.1603_1614dup	NM_001136233.2	NP_001129705.2:p.(Pro535_Ala538dup)	NC_000023.10:g.24329914_24329925dup	(Likely) benign	1 lab	43db27ea49
9:101540617 ANKS6 A>G	9	101540617	101540617	A	G	ANKS6	c.1458T>C	NM_173551.4	NP_775822.3:p.(Pro486=)	NC_000009.11:g.101540617A>G	(Likely) benign	1 lab	43e54d411f
22:35789521 HMOX1 C>T	22	35789521	35789521	C	T	HMOX1	c.797C>T	NM_002133.2	NP_002124.1:p.(Pro266Leu)	NC_000022.10:g.35789521C>T	VUS	1 lab	43dcd72b30
21:47808679 PCNT C>T	21	47808679	47808679	C	T	PCNT	c.3487C>T	NM_006031.5	NP_006022.3:p.(Arg1163Cys)	NC_000021.8:g.47808679C>T	(Likely) benign	1 lab	43dd6382fd
17:1634151 WDR81 G>A	17	1634151	1634151	G	A	WDR81	c.3878G>A	NM_001163809.1	NP_001157281.1:p.(Gly1293Glu)	NC_000017.10:g.1634151G>A	(Likely) benign	1 lab	43de9b07dd
18:56409220 MALT1 G>C	18	56409220	56409220	G	C	MALT1	c.1727G>C	NM_006785.4	NP_006776.1:p.(Arg576Pro)	NC_000018.9:g.56409220G>C	VUS	1 lab	43de9b50fc
5:35861003 IL7R C>A	5	35861003	35861003	C	A	IL7R				NC_000005.9:g.35861003C>A	(Likely) pathogenic	1 lab	43e0ebd9ef
19:33334776 SLC7A9 G>A	19	33334776	33334776	G	A	SLC7A9	c.1059C>T	NM_001243036.1	NP_001229965.1:p.(Pro353=)	NC_000019.9:g.33334776G>A	(Likely) benign	1 lab	43e1b1d4e2
17:41246426 BRCA1 TG>T	17	41246426	41246427	TG	T	BRCA1	c.1121del	NM_007294.4	NP_009225.1:p.(Thr374AsnfsTer2)	NC_000017.10:g.41246427del	(Likely) pathogenic	1 lab	ed9801f29b
3:147128583 ZIC1 G>A	3	147128583	147128583	G	A	ZIC1	c.684G>A	NM_003412.3	NP_003403.2:p.(Lys228=)	NC_000003.11:g.147128583G>A	(Likely) benign	1 lab	43e359b2e5
4:126384799 FAT4 CTTA>C	4	126384799	126384807	CTTA	C	FAT4	c.11888_11890del	NM_001291303.3	NP_001278232.1:p.(Tyr3963del)	NC_000004.11:g.126384805_126384807del	VUS	1 lab	43e3daf247
X:118892912 SOWAHD C>T	X	118892912	118892912	C	T	SOWAHD	c.282C>T	NM_001105576.3	NP_001099046.1:p.(Ala94=)	NC_000023.10:g.118892912C>T	(Likely) benign	1 lab	43e4783a67
7:138200117 TRIM24 A>T	7	138200117	138200117	A	T	TRIM24	c.631+13A>T	NM_015905.3	NP_056989.2:p.?	NC_000007.13:g.138200117A>T	(Likely) benign	1 lab	ed9bde2b8b
10:17279237 VIM C>T	10	17279237	17279237	C	T	VIM	c.1368C>T	NM_003380.4	NP_003371.2:p.(Asn456=)	NC_000010.10:g.17279237C>T	(Likely) benign	1 lab	43e581f3fa
6:160493913 IGF2R G>A	6	160493913	160493913	G	A	IGF2R	c.4687G>A	NM_000876.3	NP_000867.2:p.(Val1563Met)	NC_000006.11:g.160493913G>A	(Likely) benign	1 lab	43e5cb1a50
4:151850208 LRBA C>G	4	151850208	151850208	C	G	LRBA	c.226G>C	NM_001367550.1	NP_001354479.1:p.(Gly76Arg)	NC_000004.11:g.151850208C>G	VUS	1 lab	43e681e5c9
16:68729270 CDH3 G>A	16	68729270	68729270	G	A	CDH3	c.2115G>A	NM_001317195.1	NP_001304124.1:p.(Gly705=)	NC_000016.9:g.68729270G>A	(Likely) benign	1 lab	43e75a3111
15:38643547 SPRED1 G>T	15	38643547	38643547	G	T	SPRED1	c.1017G>T	NM_152594.2	NP_689807.1:p.(Gln339His)	NC_000015.9:g.38643547G>T	(Likely) benign	1 lab	43e873b6b2
7:103179844 RELN C>CGTTT	7	103179844	103179864	C	CGTTT	RELN	c.6931-74_6931-71dup	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103179861_103179864dup	(Likely) benign	1 lab	43e8a48ce5
2:1926743 MYT1L T>A	2	1926743	1926743	T	A	MYT1L	c.798A>T	NM_015025.4	NP_055840.2:p.(Lys266Asn)	NC_000002.11:g.1926743T>A	VUS	1 lab	ed9d15dcc2
16:77468511 ADAMTS18 C>A	16	77468511	77468511	C	A	ADAMTS18	c.82G>T	NM_199355.3	NP_955387.1:p.(Val28Leu)	NC_000016.9:g.77468511C>A	(Likely) benign	1 lab	43ec96f6be
8:97316341 PTDSS1 C>A	8	97316341	97316341	C	A	PTDSS1	c.826C>A	NM_014754.2	NP_055569.1:p.(Arg276=)	NC_000008.10:g.97316341C>A	(Likely) benign	1 lab	43ec98c0f7
11:94587194 AMOTL1 C>A	11	94587194	94587194	C	A	AMOTL1	c.1891C>A	NM_130847.3	NP_570899.1:p.(Arg631=)	NC_000011.9:g.94587194C>A	(Likely) benign	1 lab	ed9d17d067
18:67817869 RTTN A>C	18	67817869	67817869	A	C	RTTN	c.2030T>G	NM_173630.3	NP_775901.3:p.(Phe677Cys)	NC_000018.9:g.67817869A>C	VUS	1 lab	43eceb2bb9
9:117853211 TNC G>A	9	117853211	117853211	G	A	TNC	c.87C>T	NM_002160.3	NP_002151.2:p.(Ile29=)	NC_000009.11:g.117853211G>A	(Likely) benign	1 lab	43ee592c07
1:160302335 COPA C>T	1	160302335	160302335	C	T	COPA	c.399G>A	NM_001098398.2	NP_001091868.1:p.(Gly133=)	NC_000001.10:g.160302335C>T	(Likely) benign	1 lab	43ee72df53
10:55700675 PCDH15 A>T	10	55700675	55700675	A	T	PCDH15				NC_000010.10:g.55700675A>T	(Likely) benign	1 lab	43ef0ae5b7
15:43044384 TTBK2 G>A	15	43044384	43044384	G	A	TTBK2	c.3060C>T	NM_173500.3	NP_775771.3:p.(Leu1020=)	NC_000015.9:g.43044384G>A	(Likely) benign	1 lab	43efeea5da
17:29496908 NF1 G>C	17	29496908	29496908	G	C	NF1	c.480-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29496908G>C	(Likely) pathogenic	1 lab	43effaec17
15:25585315 UBE3A A>G	15	25585315	25585315	A	G	UBE3A	c.2424T>C	NM_000462.5	NP_000453.2:p.(Phe808=)	NC_000015.9:g.25585315A>G	(Likely) benign	1 lab	43f07e4fa3
6:7584049 DSP A>G	6	7584049	7584049	A	G	DSP	c.6554A>G	NM_004415.4	NP_004406.2:p.(Gln2185Arg)	NC_000006.11:g.7584049A>G	VUS	1 lab	eda6aaadbf
15:89400221 ACAN G>C	15	89400221	89400221	G	C	ACAN	c.4405G>C	NM_013227.3	NP_037359.3:p.(Gly1469Arg)	NC_000015.9:g.89400221G>C	(Likely) benign	1 lab	43f240ea0f
X:10427786 MID1 C>T	X	10427786	10427786	C	T	MID1	c.1347G>A	NM_001347733.1	NP_001334662.1:p.(Thr449=)	NC_000023.10:g.10427786C>T	(Likely) benign	1 lab	43f2726bf9
15:74483230 STRA6 G>A	15	74483230	74483230	G	A	STRA6	c.995C>T	NM_001199042.1	NP_001185971.1:p.(Pro332Leu)	NC_000015.9:g.74483230G>A	VUS	1 lab	43f2f0d722
5:13870935 DNAH5 C>T	5	13870935	13870935	C	T	DNAH5	c.3775G>A	NM_001369.2	NP_001360.1:p.(Ala1259Thr)	NC_000005.9:g.13870935C>T	(Likely) benign	1 lab	43f5e26b36
1:94486888 ABCA4 G>C	1	94486888	94486888	G	C	ABCA4	c.4926C>G	NM_000350.2	NP_000341.2:p.(Ser1642Arg)	NC_000001.10:g.94486888G>C	VUS	1 lab	43f6aa322e
8:20107497 LZTS1 G>A	8	20107497	20107497	G	A	LZTS1	c.1527C>T	NM_001362884.1	NP_001349813.1:p.(Ala509=)	NC_000008.10:g.20107497G>A	(Likely) benign	1 lab	43f7924af0
6:165844962 PDE10A T>TA	6	165844962	165844970	T	TA	PDE10A	c.664-3dup	NM_006661.3	NP_006652.1:p.?	NC_000006.11:g.165844970dup	(Likely) benign	1 lab	43f91dfe57
11:2190888 TH C>A	11	2190888	2190888	C	A	TH	c.397G>T	NM_199292.2	NP_954986.2:p.(Val133Leu)	NC_000011.9:g.2190888C>A	(Likely) benign	1 lab	43f9d420e5
17:19552403 ALDH3A2 A>G	17	19552403	19552403	A	G	ALDH3A2	c.119A>G	NM_001031806.1	NP_001026976.1:p.(Asp40Gly)	NC_000017.10:g.19552403A>G	VUS	1 lab	43f9db25ea
1:44482767 SLC6A9 G>A	1	44482767	44482767	G	A	SLC6A9	c.76C>T	NM_001328627.1	NP_001315556.1:p.(Gln26Ter)	NC_000001.10:g.44482767G>A	(Likely) pathogenic	1 lab	43fb1a3964
17:41102652 PTGES3L-AARSD1 C>T	17	41102652	41102652	C	T	PTGES3L-AARSD1	c.1719G>A	NM_001136042.2	NP_001129514.2:p.(Ala573=)	NC_000017.10:g.41102652C>T	(Likely) benign	1 lab	43fb2988fd
X:73814164 RLIM G>T	X	73814164	73814164	G	T	RLIM	c.230C>A	NM_183353.2	NP_899196.1:p.(Pro77Gln)	NC_000023.10:g.73814164G>T	(Likely) benign	1 lab	43fcf9f3a8
17:29556446 NF1 AG>A	17	29556446	29556447	AG	A	NF1	c.2814del	NM_001042492.3	NP_001035957.1:p.(Asn939IlefsTer15)	NC_000017.10:g.29556447del	(Likely) pathogenic	1 lab	43fd5c6993
1:57340774 C8A G>A	1	57340774	57340774	G	A	C8A	c.316+8G>A	NM_000562.2	NP_000553.1:p.?	NC_000001.10:g.57340774G>A	(Likely) benign	1 lab	43fd929f27
2:97427531 CNNM4 C>T	2	97427531	97427531	C	T	CNNM4	c.795C>T	NM_020184.3	NP_064569.3:p.(Ile265=)	NC_000002.11:g.97427531C>T	(Likely) benign	1 lab	43ff0da724
7:19156744 TWIST1 G>GCCCGGCTCGTC	7	19156744	19156755	G	GCCCGGCTCGTC	TWIST1	c.190_200dup	NM_000474.3	NP_000465.1:p.(Ser68ThrfsTer61)	NC_000007.13:g.19156745_19156755dup	(Likely) pathogenic	1 lab	4400a50e62
1:152084420 TCHH G>C	1	152084420	152084420	G	C	TCHH	c.1273C>G	NM_007113.3	NP_009044.2:p.(Leu425Val)	NC_000001.10:g.152084420G>C	VUS	1 lab	440111c1fa
4:187172353 KLKB1 C>CT	4	187172353	187172361	C	CT	KLKB1	c.759-12dup	NM_000892.5	NP_000883.2:p.?	NC_000004.11:g.187172361dup	(Likely) benign	1 lab	edabc4c726
X:605214 SHOX T>TC	X	605214	605220	T	TC	SHOX	c.728dup	NM_000451.3	NP_000442.1:p.(Pro244AlafsTer147)	NC_000023.10:g.605220dup	(Likely) pathogenic	1 lab	44058754ac
9:99060705 HSD17B3 G>A	9	99060705	99060705	G	A	HSD17B3	c.194C>T	NM_000197.2	NP_000188.1:p.(Ser65Leu)	NC_000009.11:g.99060705G>A	(Likely) pathogenic	1 lab	4405a4c7d7
7:117307286 CFTR GT>G	7	117307286	117307295	GT	G	CFTR	c.*133del	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117307295del	(Likely) benign	1 lab	4405fd91cc
19:3585664 GIPC3 G>A	19	3585664	3585664	G	A	GIPC3	c.69G>A	NM_133261.2	NP_573568.1:p.(Ala23=)	NC_000019.9:g.3585664G>A	(Likely) benign	1 lab	44097c66d4
15:48703266 FBN1 T>C	15	48703266	48703266	T	C	FBN1	c.8537A>G	NM_000138.4	NP_000129.3:p.(Glu2846Gly)	NC_000015.9:g.48703266T>C	VUS	1 lab	440c6edd24
7:151874709 KMT2C C>T	7	151874709	151874709	C	T	KMT2C	c.7829G>A	NM_170606.2	NP_733751.2:p.(Arg2610Gln)	NC_000007.13:g.151874709C>T	(Likely) benign	1 lab	440d875419
X:65420522 HEPH G>A	X	65420522	65420522	G	A	HEPH	c.2167G>A	NM_138737.4	NP_620074.3:p.(Gly723Ser)	NC_000023.10:g.65420522G>A	VUS	1 lab	440df5a4cc
10:55568961 PCDH15 T>C	10	55568961	55568961	T	C	PCDH15	c.4864A>G	NM_001142769.2	NP_001136241.1:p.(Ser1622Gly)	NC_000010.10:g.55568961T>C	VUS	1 lab	440ea008d9
11:66454610 SPTBN2 G>A	11	66454610	66454610	G	A	SPTBN2	c.6751C>T	NM_006946.3	NP_008877.1:p.(Arg2251Trp)	NC_000011.9:g.66454610G>A	VUS	1 lab	440f4d0046
5:122722370 CEP120 TAA>T	5	122722370	122722392	TAA	T	CEP120	c.1431-11_1431-10del	NM_001375405.1	NP_001362334.1:p.?	NC_000005.9:g.122722391_122722392del	(Likely) benign	1 lab	441057fe82
7:27239319 HOXA13 TGCAGCGGCAGCCGCGGCA>T	7	27239319	27239345	TGCAGCGGCAGCCGCGGCA	T	HOXA13	c.360_377del	NM_000522.5	NP_000513.2:p.(Ala128_Ala133del)	NC_000007.13:g.27239328_27239345del	VUS	1 lab	4410bf0c38
8:22868115 RHOBTB2 T>C	8	22868115	22868115	T	C	RHOBTB2	c.1685T>C	NM_015178.2	NP_055993.2:p.(Met562Thr)	NC_000008.10:g.22868115T>C	(Likely) benign	1 lab	44114b1b01
11:6648352 DCHS1 C>T	11	6648352	6648352	C	T	DCHS1				NC_000011.9:g.6648352C>T	VUS	1 lab	441270ee84
19:42480559 ATP1A3 G>A	19	42480559	42480559	G	A	ATP1A3	c.2133+9C>T	NM_001256214.1	NP_001243143.1:p.?	NC_000019.9:g.42480559G>A	(Likely) benign	1 lab	4413206142
15:25616945 UBE3A TTAAG>T	15	25616945	25616954	TTAAG	T	UBE3A	c.372_375del	NM_130839.5	NP_570854.1:p.(Tyr124Ter)	NC_000015.9:g.25616951_25616954del	(Likely) pathogenic	1 lab	441627333b
3:123441237 MYLK GC>G	3	123441237	123441238	GC	G	MYLK	c.1652-111del	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123441238del	(Likely) benign	1 lab	44162a2e13
16:2136730 TSC2 C>G	16	2136730	2136730	C	G	TSC2	c.4850-3C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136730C>G	(Likely) pathogenic	1 lab	4416d94d19
6:51923212 PKHD1 T>A	6	51923212	51923212	T	A	PKHD1	c.1421A>T	NM_138694.3	NP_619639.3:p.(His474Leu)	NC_000006.11:g.51923212T>A	VUS	1 lab	441768a2a4
13:23930112 SACS C>A	13	23930112	23930112	C	A	SACS	c.639G>T	NM_014363.5	NP_055178.3:p.(Gly213=)	NC_000013.10:g.23930112C>A	VUS	1 lab	441aa576d3
7:91851317 KRIT1 GC>G	7	91851317	91851319	GC	G	KRIT1	c.1461del	NM_194454.3	NP_919436.1:p.(Trp487CysfsTer8)	NC_000007.13:g.91851319del	(Likely) pathogenic	1 lab	441bb7a437
3:184049584 EIF4G1 T>C	3	184049584	184049584	T	C	EIF4G1	c.4467T>C	NM_182917.4	NP_886553.3:p.(Tyr1489=)	NC_000003.11:g.184049584T>C	(Likely) benign	1 lab	441c1e918b
13:95887078 ABCC4 T>C	13	95887078	95887078	T	C	ABCC4	c.317A>G	NM_005845.4	NP_005836.2:p.(Lys106Arg)	NC_000013.10:g.95887078T>C	VUS	1 lab	442020ea0f
5:122491590 PRDM6 G>A	5	122491590	122491590	G	A	PRDM6	c.913G>A	NM_001136239.3	NP_001129711.1:p.(Asp305Asn)	NC_000005.9:g.122491590G>A	VUS	1 lab	442125abcc
22:29745355 AP1B1 GC>G	22	29745355	29745356	GC	G	AP1B1	c.1288del	NM_001127.4	NP_001118.3:p.(Ala430ProfsTer19)	NC_000022.10:g.29745356del	(Likely) pathogenic	1 lab	4424bf8456
11:6653329 DCHS1 T>C	11	6653329	6653329	T	C	DCHS1				NC_000011.9:g.6653329T>C	(Likely) benign	1 lab	b601240d68
11:67815239 TCIRG1 T>C	11	67815239	67815239	T	C	TCIRG1	c.537T>C	NM_001351059.1	NP_001337988.1:p.(Ser179=)	NC_000011.9:g.67815239T>C	(Likely) benign	1 lab	4424fb7f9e
15:90176957 KIF7 C>T	15	90176957	90176957	C	T	KIF7	c.2552G>A	NM_198525.2	NP_940927.2:p.(Arg851His)	NC_000015.9:g.90176957C>T	VUS	1 lab	442646bed7
6:16328215 ATXN1 C>T	6	16328215	16328215	C	T	ATXN1	c.327G>A	NM_000332.3	NP_000323.2:p.(Pro109=)	NC_000006.11:g.16328215C>T	(Likely) benign	1 lab	4426df5ed6
22:37326799 CSF2RB C>T	22	37326799	37326799	C	T	CSF2RB	c.939C>T	NM_000395.2	NP_000386.1:p.(Pro313=)	NC_000022.10:g.37326799C>T	(Likely) benign	1 lab	442776a770
X:153296844 MECP2 T>A	X	153296844	153296844	T	A	MECP2	c.435A>T	NM_004992.3	NP_004983.1:p.(Val145=)	NC_000023.10:g.153296844T>A	(Likely) benign	1 lab	4428125b4b
2:170139460 LRP2 C>T	2	170139460	170139460	C	T	LRP2	c.1094G>A	NM_004525.3	NP_004516.2:p.(Arg365Gln)	NC_000002.11:g.170139460C>T	VUS	1 lab	44282367c3
12:52163714 SCN8A G>C	12	52163714	52163714	G	C	SCN8A	c.3435G>C	NM_001330260.1	NP_001317189.1:p.(Glu1145Asp)	NC_000012.11:g.52163714G>C	(Likely) benign	1 lab	442c1cc88f
1:216011418 USH2A C>T	1	216011418	216011418	C	T	USH2A	c.9286G>A	NM_206933.2	NP_996816.2:p.(Val3096Met)	NC_000001.10:g.216011418C>T	VUS	1 lab	442ea44223
1:225270251 DNAH14 G>T	1	225270251	225270251	G	T	DNAH14	c.3137G>T	NM_001367479.1	NP_001354408.1:p.(Gly1046Val)	NC_000001.10:g.225270251G>T	VUS	1 lab	442f2ca312
8:12289590 FAM86B2 C>T	8	12289590	12289590	C	T	FAM86B2	c.240+1G>A	NM_001137610.2	NP_001131082.1:p.?	NC_000008.10:g.12289590C>T	(Likely) benign	1 lab	442ff99a36
X:13778772 OFD1 C>T	X	13778772	13778772	C	T	OFD1	c.1773C>T	NM_001330210.1	NP_001317139.1:p.(Ser591=)	NC_000023.10:g.13778772C>T	(Likely) benign	1 lab	4430c34c21
X:96167503 DIAPH2 G>C	X	96167503	96167503	G	C	DIAPH2	c.684G>C	NM_006729.4	NP_006720.1:p.(Lys228Asn)	NC_000023.10:g.96167503G>C	VUS	1 lab	44319be401
10:21101810 NEBL G>A	10	21101810	21101810	G	A	NEBL	c.2406C>T	NM_006393.2	NP_006384.1:p.(Asp802=)	NC_000010.10:g.21101810G>A	(Likely) benign	1 lab	44330464a8
17:29657320 NF1 TG>T	17	29657320	29657321	TG	T	NF1	c.5617del	NM_001042492.3	NP_001035957.1:p.(Ala1873ProfsTer8)	NC_000017.10:g.29657321del	(Likely) pathogenic	1 lab	4433865761
7:1535817 INTS1 G>A	7	1535817	1535817	G	A	INTS1	c.1686C>T	NM_001080453.3	NP_001073922.2:p.(Ile562=)	NC_000007.13:g.1535817G>A	(Likely) benign	1 lab	4435602158
1:155449432 MISSING C>T	1	155449432	155449432	C	T	MISSING				NC_000001.10:g.155449432C>T	VUS	1 lab	d1bfb9ef4f
1:19166514 TAS1R2 G>A	1	19166514	19166514	G	A	TAS1R2	c.2099C>T	NM_152232.2	NP_689418.2:p.(Thr700Met)	NC_000001.10:g.19166514G>A	(Likely) benign	1 lab	443776796d
4:41259149 UCHL1 T>C	4	41259149	41259149	T	C	UCHL1	c.45+6T>C	NM_004181.4	NP_004172.2:p.?	NC_000004.11:g.41259149T>C	(Likely) benign	1 lab	4438dd9859
22:42610665 TCF20 G>A	22	42610665	42610665	G	A	TCF20	c.647C>T	NM_005650.4	NP_005641.1:p.(Thr216Ile)	NC_000022.10:g.42610665G>A	VUS	1 lab	edb2a3aea3
1:204110563 ETNK2 C>T	1	204110563	204110563	C	T	ETNK2	c.664G>A	NM_001297760.1	NP_001284689.1:p.(Val222Ile)	NC_000001.10:g.204110563C>T	(Likely) benign	1 lab	443ae04257
9:433981 DOCK8 C>T	9	433981	433981	C	T	DOCK8	c.4886+6C>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.433981C>T	(Likely) benign	1 lab	443dc5bf27
18:43316512 SLC14A1 C>T	18	43316512	43316512	C	T	SLC14A1	c.730C>T	NM_001146037.1	NP_001139509.1:p.(Leu244Phe)	NC_000018.9:g.43316512C>T	VUS	1 lab	443fc8c185
18:25572675 CDH2 G>A	18	25572675	25572675	G	A	CDH2	c.1288C>T	NM_001792.5	NP_001783.2:p.(Arg430Trp)	NC_000018.9:g.25572675G>A	VUS	1 lab	f2ce866d07
22:50659061 TUBGCP6 C>T	22	50659061	50659061	C	T	TUBGCP6	c.3727G>A	NM_020461.3	NP_065194.2:p.(Gly1243Arg)	NC_000022.10:g.50659061C>T	VUS	1 lab	4441dd2a06
22:39627622 PDGFB C>T	22	39627622	39627622	C	T	PDGFB	c.456+5G>A	NM_002608.3	NP_002599.1:p.?	NC_000022.10:g.39627622C>T	VUS	1 lab	4441ef59d1
11:6592645 DNHD1 C>T	11	6592645	6592645	C	T	DNHD1	c.13903C>T	NM_144666.2	NP_653267.2:p.(His4635Tyr)	NC_000011.9:g.6592645C>T	(Likely) benign	1 lab	444201e297
1:6309457 GPR153 G>C	1	6309457	6309457	G	C	GPR153	c.1771C>G	NM_207370.3	NP_997253.2:p.(Pro591Ala)	NC_000001.10:g.6309457G>C	VUS	1 lab	4442e05487
9:123290131 CDK5RAP2 TA>T	9	123290131	123290132	TA	T	CDK5RAP2	c.951del	NM_018249.6	NP_060719.4:p.(Asp317GlufsTer7)	NC_000009.11:g.123290132del	(Likely) pathogenic	1 lab	44435747fa
19:13318222 CACNA1A A>G	19	13318222	13318222	A	G	CACNA1A	c.7444T>C	NM_023035.2	NP_075461.2:p.(Tyr2482His)	NC_000019.9:g.13318222A>G	(Likely) benign	1 lab	4443c995e0
14:31355057 COCH C>T	14	31355057	31355057	C	T	COCH	c.1016C>T	NM_001135058.1	NP_001128530.1:p.(Thr339Ile)	NC_000014.8:g.31355057C>T	VUS	1 lab	4444ed5bdb
3:46750623 TMIE G>A	3	46750623	46750623	G	A	TMIE	c.219G>A	NM_147196.2	NP_671729.2:p.(Thr73=)	NC_000003.11:g.46750623G>A	(Likely) benign	1 lab	44459b99fa
3:182759427 MCCC1 CCA>C	3	182759427	182759431	CCA	C	MCCC1	c.1193_1194del	NM_020166.5	NP_064551.3:p.(Val398GlyfsTer19)	NC_000003.11:g.182759430_182759431del	(Likely) pathogenic	1 lab	444ec56c42
17:29665824 NF1 G>A	17	29665824	29665824	G	A	NF1	c.6858+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665824G>A	(Likely) pathogenic	1 lab	444fb42529
19:45858101 ERCC2 G>A	19	45858101	45858101	G	A	ERCC2	c.1552C>T	NM_000400.3	NP_000391.1:p.(Arg518Trp)	NC_000019.9:g.45858101G>A	VUS	1 lab	44501a562d
4:55564687 KIT G>A	4	55564687	55564687	G	A	KIT	c.575G>A	NM_000222.2	NP_000213.1:p.(Gly192Asp)	NC_000004.11:g.55564687G>A	VUS	1 lab	44504a7103
7:21940719 DNAH11 C>T	7	21940719	21940719	C	T	DNAH11				NC_000007.13:g.21940719C>T	(Likely) benign	1 lab	89a9b20588
20:61467587 COL9A3 G>A	20	61467587	61467587	G	A	COL9A3	c.1450G>A	NM_001853.4	NP_001844.3:p.(Gly484Ser)	NC_000020.10:g.61467587G>A	VUS	1 lab	4452344142
18:56246369 ALPK2 T>C	18	56246369	56246369	T	C	ALPK2	c.1639A>G	NM_052947.4	NP_443179.3:p.(Lys547Glu)	NC_000018.9:g.56246369T>C	(Likely) benign	1 lab	4452b380cf
17:29661871 NF1 AC>A	17	29661871	29661873	AC	A	NF1	c.5830del	NM_001042492.3	NP_001035957.1:p.(Leu1944PhefsTer6)	NC_000017.10:g.29661873del	(Likely) pathogenic	1 lab	44530a79d8
12:80651716 OTOGL G>A	12	80651716	80651716	G	A	OTOGL	c.1796G>A	NM_173591.3	NP_775862.3:p.(Ser599Asn)	NC_000012.11:g.80651716G>A	(Likely) benign	1 lab	4453b88399
9:6588448 GLDC A>G	9	6588448	6588448	A	G	GLDC	c.1666-6T>C	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6588448A>G	(Likely) benign	1 lab	445463c78f
1:197112094 ASPM T>C	1	197112094	197112094	T	C	ASPM	c.1288A>G	NM_018136.4	NP_060606.3:p.(Arg430Gly)	NC_000001.10:g.197112094T>C	(Likely) benign	1 lab	44546536f7
4:183721120 TENM3 G>A	4	183721120	183721120	G	A	TENM3	c.7716G>A	NM_001080477.3	NP_001073946.1:p.(Glu2572=)	NC_000004.11:g.183721120G>A	(Likely) benign	1 lab	4454c4b3cd
6:30680404 MDC1 C>T	6	30680404	30680404	C	T	MDC1	c.1315G>A	NM_014641.3	NP_055456.2:p.(Val439Met)	NC_000006.11:g.30680404C>T	VUS	1 lab	44551e6296
6:147047323 ADGB A>G	6	147047323	147047323	A	G	ADGB	c.2342A>G	NM_024694.4	NP_078970.3:p.(Asn781Ser)	NC_000006.11:g.147047323A>G	(Likely) benign	1 lab	4456a04f40
16:2138098 TSC2 C>T	16	2138098	2138098	C	T	TSC2	c.5118C>T	NM_000548.3	NP_000539.2:p.(Arg1706=)	NC_000016.9:g.2138098C>T	(Likely) benign	1 lab	4456c8d852
X:153780368 IKBKG C>T	X	153780368	153780368	C	T	IKBKG	c.151C>T	NM_001099857.2	NP_001093327.1:p.(Leu51Phe)	NC_000023.10:g.153780368C>T	(Likely) benign	1 lab	4457be8261
X:71350880 RTL5 C>G	X	71350880	71350880	C	G	RTL5	c.511G>C	NM_001024455.3	NP_001019626.1:p.(Glu171Gln)	NC_000023.10:g.71350880C>G	VUS	1 lab	44582103ab
13:103514827 ERCC5 C>G	13	103514827	103514827	C	G	ERCC5	c.1328C>G	NM_000123.3	NP_000114.2:p.(Thr443Ser)	NC_000013.10:g.103514827C>G	(Likely) benign	1 lab	445921514a
11:6560488 DNHD1 C>T	11	6560488	6560488	C	T	DNHD1	c.3365C>T	NM_144666.2	NP_653267.2:p.(Thr1122Met)	NC_000011.9:g.6560488C>T	VUS	1 lab	445a4909c6
9:140672442 EHMT1 C>T	9	140672442	140672442	C	T	EHMT1	c.2127C>T	NM_024757.4	NP_079033.4:p.(Pro709=)	NC_000009.11:g.140672442C>T	(Likely) benign	1 lab	445ac51f73
6:31929757 SKIC2 C>T	6	31929757	31929757	C	T	SKIC2	c.990C>T	NM_006929.4	NP_008860.4:p.(Val330=)	NC_000006.11:g.31929757C>T	(Likely) benign	1 lab	445be04d15
8:144992193 PLEC G>A	8	144992193	144992193	G	A	PLEC	c.12207C>T	NM_201380.3	NP_958782.1:p.(Thr4069=)	NC_000008.10:g.144992193G>A	(Likely) benign	1 lab	445d9bbeec
2:1643150 PXDN G>A	2	1643150	1643150	G	A	PXDN	c.3997C>T	NM_012293.2	NP_036425.1:p.(Arg1333Ter)	NC_000002.11:g.1643150G>A	(Likely) pathogenic	1 lab	445dc32590
X:153690567 PLXNA3 G>A	X	153690567	153690567	G	A	PLXNA3	c.1234G>A	NM_017514.4	NP_059984.3:p.(Asp412Asn)	NC_000023.10:g.153690567G>A	(Likely) benign	1 lab	445de96003
9:107645368 ABCA1 T>C	9	107645368	107645368	T	C	ABCA1	c.373A>G	NM_005502.4	NP_005493.2:p.(Met125Val)	NC_000009.11:g.107645368T>C	VUS	1 lab	edbebee697
X:10463719 MID1 G>A	X	10463719	10463719	G	A	MID1	c.769C>T	NM_001347733.1	NP_001334662.1:p.(Arg257Cys)	NC_000023.10:g.10463719G>A	VUS	1 lab	445fb24d0b
X:11316938 AMELX C>G	X	11316938	11316938	C	G	AMELX	c.457C>G	NM_182680.1	NP_872621.1:p.(Pro153Ala)	NC_000023.10:g.11316938C>G	VUS	1 lab	445fb3a06e
17:56270742 EPX C>T	17	56270742	56270742	C	T	EPX	c.181C>T	NM_000502.5	NP_000493.1:p.(Arg61Trp)	NC_000017.10:g.56270742C>T	VUS	1 lab	44611bca80
1:161180187 NDUFS2 G>A	1	161180187	161180187	G	A	NDUFS2	c.866+8G>A	NM_001166159.1	NP_001159631.1:p.?	NC_000001.10:g.161180187G>A	(Likely) benign	1 lab	44618e3aa7
10:102509555 PAX2 C>G	10	102509555	102509555	C	G	PAX2	c.96C>G	NM_003988.4	NP_003979.2:p.(Pro32=)	NC_000010.10:g.102509555C>G	(Likely) benign	1 lab	4461c56a30
4:436379 ZNF721 G>A	4	436379	436379	G	A	ZNF721	c.1877C>T	NM_133474.4	NP_597731.2:p.(Thr626Met)	NC_000004.11:g.436379G>A	VUS	1 lab	4461dd0e3b
5:34005888 AMACR G>A	5	34005888	34005888	G	A	AMACR	c.364C>T	NM_014324.5	NP_055139.4:p.(His122Tyr)	NC_000005.9:g.34005888G>A	VUS	1 lab	4462865d18
12:52100324 SCN8A G>T	12	52100324	52100324	G	T	SCN8A	c.1460G>T	NM_001330260.1	NP_001317189.1:p.(Ser487Ile)	NC_000012.11:g.52100324G>T	VUS	1 lab	4462d31d6a
19:1218414 STK11 A>G	19	1218414	1218414	A	G	STK11	c.291-2A>G	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1218414A>G	(Likely) pathogenic	1 lab	4749bd0004
19:13423528 CACNA1A C>T	19	13423528	13423528	C	T	CACNA1A	c.1626G>A	NM_023035.2	NP_075461.2:p.(Gly542=)	NC_000019.9:g.13423528C>T	(Likely) benign	1 lab	4462f6b25e
16:11797592 TXNDC11 A>C	16	11797592	11797592	A	C	TXNDC11	c.808T>G	NM_001303447.1	NP_001290376.1:p.(Ser270Ala)	NC_000016.9:g.11797592A>C	(Likely) benign	1 lab	44635ee561
2:179453906 TTN G>A	2	179453906	179453906	G	A	TTN	c.62546C>T	NM_001267550.1	NP_001254479.1:p.(Thr20849Met)	NC_000002.11:g.179453906G>A	VUS	1 lab	4463cfcd10
1:205211131 TMCC2 G>A	1	205211131	205211131	G	A	TMCC2	c.706G>A	NM_014858.4	NP_055673.2:p.(Val236Met)	NC_000001.10:g.205211131G>A	(Likely) benign	1 lab	4463d31dff
8:10467966 RP1L1 G>T	8	10467966	10467966	G	T	RP1L1	c.3642C>A	NM_178857.5	NP_849188.4:p.(Ser1214Arg)	NC_000008.10:g.10467966G>T	VUS	1 lab	44654f6790
2:241680694 KIF1A G>A	2	241680694	241680694	G	A	KIF1A	c.3741C>T	NM_001244008.1	NP_001230937.1:p.(Ala1247=)	NC_000002.11:g.241680694G>A	(Likely) benign	1 lab	4466863ed5
19:50367287 PNKP C>T	19	50367287	50367287	C	T	PNKP	c.678G>A	NM_007254.3	NP_009185.2:p.(Lys226=)	NC_000019.9:g.50367287C>T	(Likely) benign	1 lab	4467605baa
1:64644467 ROR1 A>G	1	64644467	64644467	A	G	ROR1	c.2743A>G	NM_005012.3	NP_005003.2:p.(Lys915Glu)	NC_000001.10:g.64644467A>G	(Likely) benign	1 lab	446c36557e
X:48547298 WAS C>T	X	48547298	48547298	C	T	WAS	c.1181C>T	NM_000377.2	NP_000368.1:p.(Pro394Leu)	NC_000023.10:g.48547298C>T	VUS	1 lab	446d16e43a
17:76047258 TNRC6C T>C	17	76047258	76047258	T	C	TNRC6C	c.2115T>C	NM_001142640.1	NP_001136112.1:p.(Ser705=)	NC_000017.10:g.76047258T>C	(Likely) benign	1 lab	44700947c5
X:153589909 FLNA T>C	X	153589909	153589909	T	C	FLNA	c.2974A>G	NM_001110556.2	NP_001104026.1:p.(Thr992Ala)	NC_000023.10:g.153589909T>C	(Likely) benign	1 lab	4470e48078
3:57272110 APPL1 C>G	3	57272110	57272110	C	G	APPL1	c.251C>G	NM_012096.2	NP_036228.1:p.(Ser84Cys)	NC_000003.11:g.57272110C>G	VUS	1 lab	4473412a44
11:67815179 TCIRG1 C>T	11	67815179	67815179	C	T	TCIRG1	c.477C>T	NM_001351059.1	NP_001337988.1:p.(Thr159=)	NC_000011.9:g.67815179C>T	VUS	1 lab	44737a3092
8:144895507 SCRIB G>A	8	144895507	144895507	G	A	SCRIB	c.541C>T	NM_182706.4	NP_874365.3:p.(Leu181=)	NC_000008.10:g.144895507G>A	(Likely) benign	1 lab	4474a3fc61
17:29663352 NF1 T>C	17	29663352	29663352	T	C	NF1	c.5945T>C	NM_000267.3	NP_000258.1:p.(Ile1982Thr)	NC_000017.10:g.29663352T>C	VUS	1 lab	4474f0229e
8:119123226 EXT1 CAAAA>C	8	119123226	119123230	CAAAA	C	EXT1	c.56_59del	NM_000127.3	NP_000118.2:p.(Leu19ArgfsTer116)	NC_000008.10:g.119123227_119123230del	(Likely) pathogenic	1 lab	447835d3e5
3:191075783 CCDC50 C>G	3	191075783	191075783	C	G	CCDC50	c.113-4C>G	NM_178335.2	NP_848018.1:p.?	NC_000003.11:g.191075783C>G	(Likely) benign	1 lab	44787b0a67
3:130660530 ATP2C1 T>TA	3	130660530	130660531	T	TA	ATP2C1	c.519dup	NM_014382.5	NP_055197.2:p.(Arg174ThrfsTer4)	NC_000003.11:g.130660531dup	(Likely) pathogenic	1 lab	edbff7f500
5:140503578 PCDHB4 C>T	5	140503578	140503578	C	T	PCDHB4	c.1998C>T	NM_018938.3	NP_061761.1:p.(Ser666=)	NC_000005.9:g.140503578C>T	(Likely) benign	1 lab	44799c059b
3:70014154 MITF A>G	3	70014154	70014154	A	G	MITF	c.1318A>G	NM_198159.2	NP_937802.1:p.(Thr440Ala)	NC_000003.11:g.70014154A>G	(Likely) benign	1 lab	447accd7bc
5:140230143 PCDHA9 G>A	5	140230143	140230143	G	A	PCDHA9	c.2063G>A	NM_014005.4	NP_054724.1:p.(Gly688Asp)	NC_000005.9:g.140230143G>A	(Likely) benign	1 lab	44801b7a3a
18:44190776 LOXHD1 T>C	18	44190776	44190776	T	C	LOXHD1	c.722A>G	NM_144612.6	NP_653213.6:p.(Asn241Ser)	NC_000018.9:g.44190776T>C	VUS	1 lab	4480a4addf
16:4787899 DNAAF8 C>T	16	4787899	4787899	C	T	DNAAF8	c.228C>T	NM_139170.3	NP_631909.2:p.(Gly76=)	NC_000016.9:g.4787899C>T	(Likely) benign	1 lab	4481253124
X:153788681 IKBKG A>C	X	153788681	153788681	A	C	IKBKG	c.578A>C	NM_001099857.5	NP_001093327.1:p.(Gln193Pro)	NC_000023.10:g.153788681A>C	VUS	1 lab	edc3635416
18:9117867 NDUFV2 T>C	18	9117867	9117867	T	C	NDUFV2	c.86T>C	NM_021074.5	NP_066552.2:p.(Val29Ala)	NC_000018.9:g.9117867T>C	(Likely) benign	1 lab	edc46c0549
14:21854087 CHD8 C>T	14	21854087	21854087	C	T	CHD8	c.7431G>A	NM_001170629.1	NP_001164100.1:p.(Met2477Ile)	NC_000014.8:g.21854087C>T	VUS	1 lab	44846f4879
15:25616844 UBE3A T>A	15	25616844	25616844	T	A	UBE3A	c.417A>T	NM_130838.1	NP_570853.1:p.(Ala139=)	NC_000015.9:g.25616844T>A	(Likely) benign	1 lab	44853f376a
2:97427508 CNNM4 A>C	2	97427508	97427508	A	C	CNNM4	c.772A>C	NM_020184.3	NP_064569.3:p.(Thr258Pro)	NC_000002.11:g.97427508A>C	VUS	1 lab	4486b875ec
16:2106679 TSC2 AC>A	16	2106679	2106680	AC	A	TSC2	c.684del	NM_000548.5	NP_000539.2:p.(Tyr228Ter)	NC_000016.9:g.2106680del	(Likely) pathogenic	1 lab	4487a17949
18:59954585 RELCH T>G	18	59954585	59954585	T	G	RELCH	c.1518T>G	NM_001346235.1	NP_001333164.1:p.(Phe506Leu)	NC_000018.9:g.59954585T>G	VUS	1 lab	4487b11a4d
22:21741200 RIMBP3B A>G	22	21741200	21741200	A	G	RIMBP3B	c.3053A>G	NM_001128635.1	NP_001122107.1:p.(His1018Arg)	NC_000022.10:g.21741200A>G	(Likely) benign	1 lab	44882a2744
9:140095048 TPRN G>A	9	140095048	140095048	G	A	TPRN	c.116C>T	NM_001128228.3	NP_001121700.2:p.(Pro39Leu)	NC_000009.11:g.140095048G>A	(Likely) benign	1 lab	44883fd0ac
11:6566823 DNHD1 G>T	11	6566823	6566823	G	T	DNHD1	c.4654G>T	NM_144666.2	NP_653267.2:p.(Ala1552Ser)	NC_000011.9:g.6566823G>T	(Likely) benign	1 lab	44898aa7ec
20:61040529 GATA5 G>C	20	61040529	61040529	G	C	GATA5	c.914-9C>G	NM_080473.4	NP_536721.1:p.?	NC_000020.10:g.61040529G>C	(Likely) benign	1 lab	448b457d87
10:103825806 HPS6 G>A	10	103825806	103825806	G	A	HPS6	c.575G>A	NM_024747.5	NP_079023.2:p.(Gly192Glu)	NC_000010.10:g.103825806G>A	(Likely) benign	1 lab	448bc96a40
17:80051618 FASN G>T	17	80051618	80051618	G	T	FASN	c.310C>A	NM_004104.5	NP_004095.4:p.(His104Asn)	NC_000017.10:g.80051618G>T	(Likely) benign	1 lab	448bfde336
9:135772964 TSC1 CTT>C	9	135772964	135772967	CTT	C	TSC1	c.2657_2658del	NM_000368.5	NP_000359.1:p.(Lys886ArgfsTer17)	NC_000009.11:g.135772966_135772967del	(Likely) pathogenic	1 lab	448d330e57
16:89590584 SPG7 G>A	16	89590584	89590584	G	A	SPG7	c.547G>A	NM_003119.3	NP_003110.1:p.(Val183Ile)	NC_000016.9:g.89590584G>A	(Likely) benign	1 lab	448e3e18d9
5:107717003 FBXL17 A>AGCG	5	107717003	107717023	A	AGCG	FBXL17	c.387_389dup	NM_001163315.2	NP_001156787.2:p.(Ala132dup)	NC_000005.9:g.107717021_107717023dup	VUS	1 lab	448edcbb32
17:11648285 DNAH9 G>A	17	11648285	11648285	G	A	DNAH9	c.6283G>A	NM_001372.3	NP_001363.2:p.(Gly2095Arg)	NC_000017.10:g.11648285G>A	VUS	1 lab	448f261d9b
8:87641260 CNGB3 C>T	8	87641260	87641260	C	T	CNGB3	c.1367G>A	NM_019098.4	NP_061971.3:p.(Arg456His)	NC_000008.10:g.87641260C>T	VUS	1 lab	4491e8551e
6:162394435 PRKN T>A	6	162394435	162394435	T	A	PRKN	c.633A>T	NM_004562.2	NP_004553.2:p.(Lys211Asn)	NC_000006.11:g.162394435T>A	(Likely) pathogenic	1 lab	4492828ef9
7:150751371 CDK5 C>A	7	150751371	150751371	C	A	CDK5	c.720G>T	NM_004935.3	NP_004926.1:p.(Pro240=)	NC_000007.13:g.150751371C>A	(Likely) benign	1 lab	4492d99caf
11:117280610 CEP164 C>T	11	117280610	117280610	C	T	CEP164	c.4025C>T	NM_014956.4	NP_055771.4:p.(Pro1342Leu)	NC_000011.9:g.117280610C>T	VUS	1 lab	4493135307
9:215192 DOCK8 CCGCTGGACGCGCGGCGGCTCCTG>C	9	215192	215221	CCGCTGGACGCGCGGCGGCTCCTG	C	DOCK8	c.53+170_53+192del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.215199_215221del	VUS	1 lab	449377581c
9:98268816 PTCH1 TTTAAA>T	9	98268816	98268822	TTTAAA	T	PTCH1	c.262_266del	NM_000264.5	NP_000255.2:p.(Phe88ThrfsTer50)	NC_000009.11:g.98268818_98268822del	(Likely) pathogenic	1 lab	edc49216a7
10:13175591 OPTN G>A	10	13175591	13175591	G	A	OPTN	c.1612+10G>A	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13175591G>A	(Likely) benign	1 lab	4493d24122
15:100269654 LYSMD4 C>G	15	100269654	100269654	C	G	LYSMD4	c.568G>C	NM_152449.3	NP_689662.2:p.(Glu190Gln)	NC_000015.9:g.100269654C>G	(Likely) benign	1 lab	44958ec1ae
6:33154337 COL11A2 G>A	6	33154337	33154337	G	A	COL11A2	c.865C>T	NM_001163771.1	NP_001157243.1:p.(Pro289Ser)	NC_000006.11:g.33154337G>A	VUS	1 lab	449605a3b0
2:63220672 EHBP1 C>T	2	63220672	63220672	C	T	EHBP1	c.2741C>T	NM_001142615.3	NP_001136087.1:p.(Thr914Ile)	NC_000002.11:g.63220672C>T	VUS	1 lab	edc4f2d17a
17:29654736 NF1 C>A	17	29654736	29654736	C	A	NF1	c.5425C>A	NM_000267.3	NP_000258.1:p.(Arg1809Ser)	NC_000017.10:g.29654736C>A	VUS	1 lab	4496ebb9e5
X:54209318 FAM120C A>G	X	54209318	54209318	A	G	FAM120C	c.314T>C	NM_017848.5	NP_060318.4:p.(Leu105Pro)	NC_000023.10:g.54209318A>G	(Likely) benign	1 lab	44993bb4fa
1:197091600 ASPM C>T	1	197091600	197091600	C	T	ASPM	c.3516G>A	NM_018136.4	NP_060606.3:p.(Thr1172=)	NC_000001.10:g.197091600C>T	(Likely) benign	1 lab	4499661e61
3:52825548 ITIH1 C>CTAGAAGTTTCTGA	3	52825548	52825549	C	CTAGAAGTTTCTGA	ITIH1	c.2510_2511insTAGAAGTTTCTGA	NM_002215.3	NP_002206.2:p.(Ile838ArgfsTer4)	NC_000003.11:g.52825548_52825549insTAGAAGTTTCTGA	VUS	1 lab	4499e5ce69
6:43307677 ZNF318 A>G	6	43307677	43307677	A	G	ZNF318	c.4059T>C	NM_014345.3	NP_055160.2:p.(Pro1353=)	NC_000006.11:g.43307677A>G	(Likely) benign	1 lab	449b7ead84
16:53686539 RPGRIP1L C>T	16	53686539	53686539	C	T	RPGRIP1L	c.2060G>A	NM_015272.4	NP_056087.2:p.(Ser687Asn)	NC_000016.9:g.53686539C>T	VUS	1 lab	449e9f46f3
16:57954438 CNGB1 G>A	16	57954438	57954438	G	A	CNGB1	c.1654C>T	NM_001297.4	NP_001288.3:p.(Arg552Cys)	NC_000016.9:g.57954438G>A	VUS	1 lab	449f26bc59
5:40981545 C7 G>A	5	40981545	40981545	G	A	C7	c.2402G>A	NM_000587.2	NP_000578.2:p.(Gly801Glu)	NC_000005.9:g.40981545G>A	VUS	1 lab	44a08c8963
8:49832843 SNAI2 G>A	8	49832843	49832843	G	A	SNAI2	c.237C>T	NM_003068.5	NP_003059.1:p.(Tyr79=)	NC_000008.10:g.49832843G>A	(Likely) benign	1 lab	44a205ccf9
X:107408648 COL4A6 C>A	X	107408648	107408648	C	A	COL4A6	c.3811G>T	NM_001287758.1	NP_001274687.1:p.(Ala1271Ser)	NC_000023.10:g.107408648C>A	(Likely) benign	1 lab	44a20c726b
20:25462631 NINL G>A	20	25462631	25462631	G	A	NINL	c.1783C>T	NM_025176.6	NP_079452.3:p.(Arg595Trp)	NC_000020.10:g.25462631G>A	VUS	1 lab	44a2140cb7
5:90083883 ADGRV1 C>T	5	90083883	90083883	C	T	ADGRV1	c.13654-5C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90083883C>T	(Likely) benign	1 lab	44a2150ea0
20:40161792 CHD6 C>T	20	40161792	40161792	C	T	CHD6	c.451G>A	NM_032221.4	NP_115597.3:p.(Ala151Thr)	NC_000020.10:g.40161792C>T	(Likely) benign	1 lab	44a276cab2
2:71298831 NAGK G>A	2	71298831	71298831	G	A	NAGK	c.229G>A	NM_017567.6	NP_060037.4:p.(Gly77Ser)	NC_000002.11:g.71298831G>A	(Likely) benign	1 lab	44a4902744
X:66943630 AR G>A	X	66943630	66943630	G	A	AR	c.2710G>A	NM_000044.4	NP_000035.2:p.(Val904Met)	NC_000023.10:g.66943630G>A	(Likely) pathogenic	1 lab	44a5622e27
10:72358941 PRF1 C>T	10	72358941	72358941	C	T	PRF1	c.540-4G>A	NM_001083116.1	NP_001076585.1:p.?	NC_000010.10:g.72358941C>T	(Likely) benign	1 lab	44a5d049de
17:37829392 PGAP3 G>T	17	37829392	37829392	G	T	PGAP3	c.811C>A	NM_033419.4	NP_219487.3:p.(Leu271Met)	NC_000017.10:g.37829392G>T	(Likely) benign	1 lab	44a5d6bb4e
22:51159150 MISSING G>C	22	51159150	51159150	G	C	MISSING				NC_000022.10:g.51159150G>C	(Likely) benign	1 lab	89e05e25f0
2:32475040 NLRC4 T>C	2	32475040	32475040	T	C	NLRC4	c.1893A>G	NM_021209.4	NP_067032.3:p.(Thr631=)	NC_000002.11:g.32475040T>C	(Likely) benign	1 lab	44a72a32c0
20:18523799 SEC23B C>T	20	18523799	18523799	C	T	SEC23B	c.1648C>T	NM_032985.5	NP_116780.1:p.(Arg550Ter)	NC_000020.10:g.18523799C>T	(Likely) pathogenic	1 lab	44a842bd3b
8:2037889 MYOM2 C>T	8	2037889	2037889	C	T	MYOM2	c.1703C>T	NM_003970.4	NP_003961.3:p.(Pro568Leu)	NC_000008.10:g.2037889C>T	VUS	1 lab	44a94a915d
1:236849999 ACTN2 A>C	1	236849999	236849999	A	C	ACTN2	c.26A>C	NM_001103.3	NP_001094.1:p.(Gln9Pro)	NC_000001.10:g.236849999A>C	VUS	1 lab	44ab75f626
2:234959713 SPP2 C>T	2	234959713	234959713	C	T	SPP2	c.184C>T	NM_006944.2	NP_008875.1:p.(Arg62Trp)	NC_000002.11:g.234959713C>T	VUS	1 lab	44ac71648a
16:81069612 ATMIN G>T	16	81069612	81069612	G	T	ATMIN	c.137G>T	NM_015251.3	NP_056066.2:p.(Gly46Val)	NC_000016.9:g.81069612G>T	VUS	1 lab	44ad0c7591
5:90106863 ADGRV1 C>T	5	90106863	90106863	C	T	ADGRV1	c.15786C>T	NM_032119.4	NP_115495.3:p.(Phe5262=)	NC_000005.9:g.90106863C>T	(Likely) benign	1 lab	44adee1d1a
2:179400084 TTN A>G	2	179400084	179400084	A	G	TTN	c.101258T>C	NM_001267550.1	NP_001254479.1:p.(Phe33753Ser)	NC_000002.11:g.179400084A>G	VUS	1 lab	44afbf07dd
2:217012851 XRCC5 A>G	2	217012851	217012851	A	G	XRCC5	c.1522A>G	NM_021141.3	NP_066964.1:p.(Ile508Val)	NC_000002.11:g.217012851A>G	VUS	1 lab	44b04fd65b
X:8433831 VCX3B C>T	X	8433831	8433831	C	T	VCX3B	c.148C>T	NM_001001888.3	NP_001001888.3:p.(Arg50Cys)	NC_000023.10:g.8433831C>T	(Likely) benign	1 lab	44b2212281
4:109971282 COL25A1 G>A	4	109971282	109971282	G	A	COL25A1	c.412+9C>T	NM_198721.3	NP_942014.1:p.?	NC_000004.11:g.109971282G>A	(Likely) benign	1 lab	44b2665362
X:18936962 PHKA2 G>A	X	18936962	18936962	G	A	PHKA2	c.1974C>T	NM_000292.2	NP_000283.1:p.(Asp658=)	NC_000023.10:g.18936962G>A	(Likely) benign	1 lab	44b3a720c7
15:40491909 BUB1B A>C	15	40491909	40491909	A	C	BUB1B	c.1382A>C	NM_001211.6	NP_001202.5:p.(Gln461Pro)	NC_000015.9:g.40491909A>C	VUS	1 lab	edcb406eba
X:40440288 ATP6AP2 GC>G	X	40440288	40440292	GC	G	ATP6AP2	c.-26del	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40440292del	VUS	1 lab	edccaddde8
X:100503208 DRP2 A>C	X	100503208	100503208	A	C	DRP2	c.1383A>C	NM_001939.2	NP_001930.2:p.(Glu461Asp)	NC_000023.10:g.100503208A>C	VUS	1 lab	44b5d6656b
8:124978288 FER1L6 C>A	8	124978288	124978288	C	A	FER1L6	c.239C>A	NM_001039112.2	NP_001034201.2:p.(Ser80Tyr)	NC_000008.10:g.124978288C>A	VUS	1 lab	44b6ad89ed
5:150931085 FAT2 C>T	5	150931085	150931085	C	T	FAT2	c.4239G>A	NM_001447.2	NP_001438.1:p.(Arg1413=)	NC_000005.9:g.150931085C>T	(Likely) benign	1 lab	44b74ab2d1
19:9010982 MUC16 G>A	19	9010982	9010982	G	A	MUC16	c.38936C>T	NM_024690.2	NP_078966.2:p.(Ala12979Val)	NC_000019.9:g.9010982G>A	(Likely) benign	1 lab	44bad03c94
6:7246704 RREB1 G>C	6	7246704	7246704	G	C	RREB1	c.4021G>C	NM_001003699.4	NP_001003699.1:p.(Asp1341His)	NC_000006.11:g.7246704G>C	VUS	1 lab	edcde0f957
17:56272532 EPX G>A	17	56272532	56272532	G	A	EPX	c.801+1G>A	NM_000502.5	NP_000493.1:p.?	NC_000017.10:g.56272532G>A	VUS	1 lab	44bba65d07
2:1926724 MYT1L C>T	2	1926724	1926724	C	T	MYT1L	c.817G>A	NM_001329851.1	NP_001316780.1:p.(Gly273Ser)	NC_000002.11:g.1926724C>T	VUS	1 lab	44bd9c89b6
16:75513106 CHST6 C>T	16	75513106	75513106	C	T	CHST6	c.621G>A	NM_021615.5	NP_067628.1:p.(Val207=)	NC_000016.9:g.75513106C>T	(Likely) benign	1 lab	44bf7b9528
2:46607721 EPAS1 C>T	2	46607721	46607721	C	T	EPAS1	c.1910C>T	NM_001430.4	NP_001421.2:p.(Thr637Ile)	NC_000002.11:g.46607721C>T	VUS	1 lab	44c02b2553
1:119575819 WARS2 CG>C	1	119575819	119575822	CG	C	WARS2	c.797del	NM_015836.4	NP_056651.1:p.(Pro266ArgfsTer10)	NC_000001.10:g.119575822del	(Likely) pathogenic	1 lab	edcea12662
12:40709111 LRRK2 C>A	12	40709111	40709111	C	A	LRRK2	c.4827+9C>A	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40709111C>A	(Likely) benign	1 lab	44c0cb22c2
2:234676503 UGT1A1 G>A	2	234676503	234676503	G	A	UGT1A1	c.1005G>A	NM_000463.2	NP_000454.1:p.(Trp335Ter)	NC_000002.11:g.234676503G>A	(Likely) pathogenic	1 lab	44c291ebec
17:29670020 NF1 TTAATA>AT	17	29670020	29670025	TTAATA	AT	NF1	c.7000-7_7000-2delinsAT	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29670020_29670025delinsAT	(Likely) pathogenic	1 lab	44c2a9202e
2:39499681 MAP4K3 T>C	2	39499681	39499681	T	C	MAP4K3	c.1797A>G	NM_003618.3	NP_003609.2:p.(Leu599=)	NC_000002.11:g.39499681T>C	(Likely) benign	1 lab	44c56d7493
17:29556100 NF1 GG>C	17	29556100	29556101	GG	C	NF1	c.2467_2468delinsC	NM_000267.3	NP_000258.1:p.(Gly823GlnfsTer4)	NC_000017.10:g.29556100_29556101delinsC	(Likely) pathogenic	1 lab	44c90c6d84
16:2136854 TSC2 C>CAA	16	2136854	2136856	C	CAA	TSC2	c.4972_4973dup	NM_000548.3	NP_000539.2:p.(Leu1659SerfsTer14)	NC_000016.9:g.2136855_2136856dup	(Likely) pathogenic	1 lab	44ca4a5f47
9:79933378 VPS13A T>C	9	79933378	79933378	T	C	VPS13A	c.5184T>C	NM_033305.2	NP_150648.2:p.(Ser1728=)	NC_000009.11:g.79933378T>C	(Likely) benign	1 lab	44caab9ab2
2:166756319 TTC21B T>C	2	166756319	166756319	T	C	TTC21B	c.2829A>G	NM_024753.4	NP_079029.3:p.(Leu943=)	NC_000002.11:g.166756319T>C	(Likely) benign	1 lab	44ccaef515
13:23904641 SACS G>A	13	23904641	23904641	G	A	SACS	c.13374C>T	NM_014363.5	NP_055178.3:p.(Phe4458=)	NC_000013.10:g.23904641G>A	(Likely) benign	1 lab	44cd109010
17:18058015 MYO15A G>A	17	18058015	18058015	G	A	MYO15A	c.8170G>A	NM_016239.3	NP_057323.3:p.(Glu2724Lys)	NC_000017.10:g.18058015G>A	VUS	1 lab	44ce8663fe
X:38664658 MID1IP1 G>C	X	38664658	38664658	G	C	MID1IP1	c.459G>C	NM_021242.5	NP_067065.1:p.(Gly153=)	NC_000023.10:g.38664658G>C	(Likely) benign	1 lab	44ceb8f2eb
10:116615013 FHIP2A T>C	10	116615013	116615013	T	C	FHIP2A	c.1861T>C	NM_020940.4	NP_065991.3:p.(Leu621=)	NC_000010.10:g.116615013T>C	(Likely) benign	1 lab	44d063113a
2:179530085 TTN T>A	2	179530085	179530085	T	A	TTN	c.36043+19A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179530085T>A	(Likely) benign	1 lab	44d0b0d3df
20:36631038 TTI1 G>A	20	36631038	36631038	G	A	TTI1	c.2644C>T	NM_014657.3	NP_055472.1:p.(Arg882Cys)	NC_000020.10:g.36631038G>A	VUS	1 lab	edd2e9561b
16:50827523 CYLD C>T	16	50827523	50827523	C	T	CYLD	c.2417C>T	NM_015247.2	NP_056062.1:p.(Pro806Leu)	NC_000016.9:g.50827523C>T	(Likely) benign	1 lab	44d395de7e
17:79974933 ASPSCR1 C>T	17	79974933	79974933	C	T	ASPSCR1	c.1874C>T	NM_001251888.1	NP_001238817.1:p.(Thr625Met)	NC_000017.10:g.79974933C>T	VUS	1 lab	44d4fca90b
16:70852334 HYDIN G>T	16	70852334	70852334	G	T	HYDIN	c.14569C>A	NM_001270974.2	NP_001257903.1:p.(Pro4857Thr)	NC_000016.9:g.70852334G>T	VUS	1 lab	44d61c37be
X:130412478 IGSF1 C>T	X	130412478	130412478	C	T	IGSF1	c.2013G>A	NM_001170961.1	NP_001164432.1:p.(Met671Ile)	NC_000023.10:g.130412478C>T	VUS	1 lab	44d65e76c8
7:146829388 CNTNAP2 A>G	7	146829388	146829388	A	G	CNTNAP2	c.1135A>G	NM_014141.5	NP_054860.1:p.(Asn379Asp)	NC_000007.13:g.146829388A>G	VUS	1 lab	44d6a340f0
X:21488897 CNKSR2 A>T	X	21488897	21488897	A	T	CNKSR2	c.533A>T	NM_014927.4	NP_055742.2:p.(Tyr178Phe)	NC_000023.10:g.21488897A>T	(Likely) benign	1 lab	44d75be960
9:131591064 SPOUT1 T>C	9	131591064	131591064	T	C	SPOUT1	c.158A>G	NM_016390.4	NP_057474.2:p.(Gln53Arg)	NC_000009.11:g.131591064T>C	VUS	1 lab	44d78c8b53
16:15831300 MYH11 C>T	16	15831300	15831300	C	T	MYH11	c.3314+6G>A	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15831300C>T	(Likely) benign	1 lab	44d7bb5d64
19:51856483 ETFB G>A	19	51856483	51856483	G	A	ETFB	c.551C>T	NM_001014763.1	NP_001014763.1:p.(Pro184Leu)	NC_000019.9:g.51856483G>A	(Likely) benign	1 lab	44da0c2f30
11:121384991 SORL1 A>G	11	121384991	121384991	A	G	SORL1	c.1172A>G	NM_003105.5	NP_003096.1:p.(Tyr391Cys)	NC_000011.9:g.121384991A>G	VUS	1 lab	44da57a3bd
7:107323722 SLC26A4 G>A	7	107323722	107323722	G	A	SLC26A4	c.841G>A	NM_000441.1	NP_000432.1:p.(Val281Ile)	NC_000007.13:g.107323722G>A	VUS	1 lab	44daf20539
19:7707654 STXBP2 A>G	19	7707654	7707654	A	G	STXBP2	c.938A>G	NM_001272034.1	NP_001258963.1:p.(Lys313Arg)	NC_000019.9:g.7707654A>G	(Likely) benign	1 lab	44db14f3f9
17:29483085 NF1 TA>T	17	29483085	29483086	TA	T	NF1	c.146del	NM_001042492.3	NP_001035957.1:p.(Tyr49SerfsTer7)	NC_000017.10:g.29483086del	(Likely) pathogenic	1 lab	44dbe3bec9
7:102113047 LRWD1 G>A	7	102113047	102113047	G	A	LRWD1	c.1225G>A	NM_001317721.1	NP_001304650.1:p.(Ala409Thr)	NC_000007.13:g.102113047G>A	(Likely) benign	1 lab	44dc9be858
9:131396265 DYNC2I2 CAA>C	9	131396265	131396268	CAA	C	DYNC2I2	c.1373-6_1373-5del	NM_052844.4	NP_443076.2:p.?	NC_000009.11:g.131396267_131396268del	(Likely) benign	1 lab	44de4875b5
3:123458846 MYLK T>G	3	123458846	123458846	T	G	MYLK	c.376A>C	NM_053025.3	NP_444253.3:p.(Ser126Arg)	NC_000003.11:g.123458846T>G	(Likely) benign	1 lab	44df318aa7
7:92761908 SAMD9L A>G	7	92761908	92761908	A	G	SAMD9L	c.3377T>C	NM_152703.4	NP_689916.2:p.(Val1126Ala)	NC_000007.13:g.92761908A>G	VUS	1 lab	44df488dc6
10:18331625 SLC39A12 T>C	10	18331625	18331625	T	C	SLC39A12	c.1945-9T>C	NM_001282733.1	NP_001269662.1:p.?	NC_000010.10:g.18331625T>C	(Likely) benign	1 lab	44e363a1e7
1:216591954 USH2A T>C	1	216591954	216591954	T	C	USH2A	c.553A>G	NM_206933.2	NP_996816.2:p.(Met185Val)	NC_000001.10:g.216591954T>C	(Likely) benign	1 lab	44e38ecff3
9:2039805 SMARCA2 A>C	9	2039805	2039805	A	C	SMARCA2	c.695A>C	NM_003070.4	NP_003061.3:p.(Gln232Pro)	NC_000009.11:g.2039805A>C	(Likely) benign	1 lab	44e38ed126
16:90001997 TUBB3 C>T	16	90001997	90001997	C	T	TUBB3	c.922C>T	NM_001197181.1	NP_001184110.1:p.(Arg308Cys)	NC_000016.9:g.90001997C>T	VUS	1 lab	44e406de77
19:13482572 CACNA1A C>T	19	13482572	13482572	C	T	CACNA1A	c.561G>A	NM_023035.2	NP_075461.2:p.(Thr187=)	NC_000019.9:g.13482572C>T	(Likely) benign	1 lab	44e54c2147
X:38145159 RPGR C>T	X	38145159	38145159	C	T	RPGR	c.3093G>A	NM_001034853.1	NP_001030025.1:p.(Glu1031=)	NC_000023.10:g.38145159C>T	(Likely) benign	1 lab	44e7862ab7
3:129288723 PLXND1 G>A	3	129288723	129288723	G	A	PLXND1	c.3828C>T	NM_015103.3	NP_055918.3:p.(Ile1276=)	NC_000003.11:g.129288723G>A	(Likely) benign	1 lab	edd39bdc1e
8:133912510 TG C>T	8	133912510	133912510	C	T	TG	c.3359C>T	NM_003235.4	NP_003226.4:p.(Ser1120Leu)	NC_000008.10:g.133912510C>T	(Likely) benign	1 lab	44e83f8fc6
14:76548724 IFT43 G>C	14	76548724	76548724	G	C	IFT43	c.383+14G>C	NM_052873.2	NP_443105.2:p.?	NC_000014.8:g.76548724G>C	(Likely) benign	1 lab	44e888fce8
11:57427208 CLP1 A>AC	11	57427208	57427209	A	AC	CLP1	c.261dup	NM_006831.2	NP_006822.1:p.(Thr88HisfsTer37)	NC_000011.9:g.57427209dup	VUS	1 lab	44e8b38f27
5:90079781 ADGRV1 C>T	5	90079781	90079781	C	T	ADGRV1	c.13560C>T	NM_032119.4	NP_115495.3:p.(Leu4520=)	NC_000005.9:g.90079781C>T	(Likely) benign	1 lab	44ea52c16c
7:114304332 FOXP2 C>T	7	114304332	114304332	C	T	FOXP2	c.1919C>T	NM_148898.3	NP_683696.2:p.(Ala640Val)	NC_000007.13:g.114304332C>T	VUS	1 lab	44eb64a471
6:76564997 MYO6 T>C	6	76564997	76564997	T	C	MYO6	c.1220T>C	NM_004999.3	NP_004990.3:p.(Ile407Thr)	NC_000006.11:g.76564997T>C	VUS	1 lab	44ebb0bf48
7:151859485 KMT2C T>C	7	151859485	151859485	T	C	KMT2C	c.11177A>G	NM_170606.2	NP_733751.2:p.(Glu3726Gly)	NC_000007.13:g.151859485T>C	(Likely) benign	1 lab	44edd44961
20:31389106 DNMT3B C>T	20	31389106	31389106	C	T	DNMT3B	c.2019C>T	NM_006892.3	NP_008823.1:p.(Phe673=)	NC_000020.10:g.31389106C>T	(Likely) benign	1 lab	44ef763302
3:77526562 ROBO2 C>T	3	77526562	77526562	C	T	ROBO2	c.389-3C>T	NM_001290040.1	NP_001276969.1:p.?	NC_000003.11:g.77526562C>T	(Likely) benign	1 lab	44f10d4c44
16:2161371 PKD1 C>T	16	2161371	2161371	C	T	PKD1	c.3797G>A	NM_001009944.2	NP_001009944.2:p.(Arg1266Gln)	NC_000016.9:g.2161371C>T	(Likely) benign	1 lab	44f2c4d8c3
19:19257169 MEF2B G>A	19	19257169	19257169	G	A	MEF2B	c.794C>T	NM_001145785.2	NP_001139257.1:p.(Pro265Leu)	NC_000019.9:g.19257169G>A	(Likely) benign	1 lab	44f33a3b40
2:39262577 SOS1 C>T	2	39262577	39262577	C	T	SOS1	c.929G>A	NM_005633.3	NP_005624.2:p.(Arg310His)	NC_000002.11:g.39262577C>T	(Likely) benign	1 lab	44f4c9d466
11:92577236 FAT3 G>C	11	92577236	92577236	G	C	FAT3	c.10703G>C	NM_001008781.2	NP_001008781.2:p.(Gly3568Ala)	NC_000011.9:g.92577236G>C	VUS	1 lab	44f4d7b932
X:100169763 XKRX C>T	X	100169763	100169763	C	T	XKRX	c.914G>A	NM_212559.2	NP_997724.2:p.(Arg305Gln)	NC_000023.10:g.100169763C>T	(Likely) benign	1 lab	44f54307a0
12:48391412 COL2A1 G>T	12	48391412	48391412	G	T	COL2A1	c.508C>A	NM_001844.4	NP_001835.3:p.(Pro170Thr)	NC_000012.11:g.48391412G>T	VUS	1 lab	44f5b7bf30
12:32772641 FGD4 A>G	12	32772641	32772641	A	G	FGD4	c.316A>G	NM_001304484.1	NP_001291413.1:p.(Met106Val)	NC_000012.11:g.32772641A>G	(Likely) benign	1 lab	44f5bc6911
16:3075805 THOC6 G>A	16	3075805	3075805	G	A	THOC6	c.136G>A	NM_024339.4	NP_077315.2:p.(Gly46Arg)	NC_000016.9:g.3075805G>A	(Likely) pathogenic	1 lab	44f607fc56
5:127471440 SLC12A2 G>A	5	127471440	127471440	G	A	SLC12A2	c.1348G>A	NM_001046.2	NP_001037.1:p.(Val450Ile)	NC_000005.9:g.127471440G>A	(Likely) benign	1 lab	44f6d84466
12:31237518 DDX11 C>T	12	31237518	31237518	C	T	DDX11	c.395C>T	NM_030653.3	NP_085911.2:p.(Ala132Val)	NC_000012.11:g.31237518C>T	VUS	1 lab	44f9419412
16:4387078 GLIS2 C>T	16	4387078	4387078	C	T	GLIS2	c.1128C>T	NM_032575.2	NP_115964.2:p.(Pro376=)	NC_000016.9:g.4387078C>T	(Likely) benign	1 lab	44f9d533fc
11:118963178 HMBS A>G	11	118963178	118963178	A	G	HMBS	c.716A>G	NM_000190.4	NP_000181.2:p.(His239Arg)	NC_000011.9:g.118963178A>G	(Likely) pathogenic	1 lab	44fa229b98
1:27440425 SLC9A1 C>T	1	27440425	27440425	C	T	SLC9A1	c.705G>A	NM_003047.4	NP_003038.2:p.(Ser235=)	NC_000001.10:g.27440425C>T	(Likely) benign	1 lab	44fd8000fe
8:42693223 THAP1 C>T	8	42693223	42693223	C	T	THAP1	c.524G>A	NM_018105.3	NP_060575.1:p.(Arg175Gln)	NC_000008.10:g.42693223C>T	VUS	1 lab	edd67b3133
19:7625546 PNPLA6 C>G	19	7625546	7625546	C	G	PNPLA6	c.3742C>G	NM_001166111.1	NP_001159583.1:p.(Gln1248Glu)	NC_000019.9:g.7625546C>G	VUS	1 lab	4501929f9d
10:56128896 PCDH15 T>C	10	56128896	56128896	T	C	PCDH15				NC_000010.10:g.56128896T>C	VUS	1 lab	d3cb3d5950
8:10480383 RP1L1 G>C	8	10480383	10480383	G	C	RP1L1	c.329C>G	NM_178857.5	NP_849188.4:p.(Pro110Arg)	NC_000008.10:g.10480383G>C	VUS	1 lab	45035519a8
9:94809555 SPTLC1 G>A	9	94809555	94809555	G	A	SPTLC1	c.985-5C>T	NM_001281303.1	NP_001268232.1:p.?	NC_000009.11:g.94809555G>A	(Likely) benign	1 lab	4503627f16
7:27135316 HOXA1 ATGGTGG>A	7	27135316	27135340	ATGGTGG	A	HOXA1	c.210_215del	NM_005522.5	NP_005513.2:p.(His71_His72del)	NC_000007.13:g.27135335_27135340del	VUS	1 lab	450424d6be
19:9045577 MUC16 C>G	19	9045577	9045577	C	G	MUC16	c.36054G>C	NM_024690.2	NP_078966.2:p.(Val12018=)	NC_000019.9:g.9045577C>G	(Likely) benign	1 lab	4504449833
10:90699264 ACTA2 C>T	10	90699264	90699264	C	T	ACTA2	c.808G>A	NM_001613.2	NP_001604.1:p.(Gly270Arg)	NC_000010.10:g.90699264C>T	(Likely) pathogenic	1 lab	450498c038
3:52867732 STIMATE-MUSTN1 G>A	3	52867732	52867732	G	A	STIMATE-MUSTN1	c.913C>T	NM_001198974.2	NP_001185903.2:p.(Arg305Cys)	NC_000003.11:g.52867732G>A	VUS	1 lab	45049a7bda
2:27682288 IFT172 T>A	2	27682288	27682288	T	A	IFT172	c.2744A>T	NM_015662.2	NP_056477.1:p.(Tyr915Phe)	NC_000002.11:g.27682288T>A	(Likely) benign	1 lab	45060ecdf2
X:153577818 FLNA G>A	X	153577818	153577818	G	A	FLNA	c.7668C>T	NM_001110556.2	NP_001104026.1:p.(Asp2556=)	NC_000023.10:g.153577818G>A	(Likely) benign	1 lab	450646568a
X:153217379 HCFC1 C>T	X	153217379	153217379	C	T	HCFC1	c.5173G>A	NM_005334.2	NP_005325.2:p.(Asp1725Asn)	NC_000023.10:g.153217379C>T	VUS	1 lab	4507b6b8d7
22:20760223 ZNF74 C>T	22	20760223	20760223	C	T	ZNF74	c.900C>T	NM_003426.4	NP_003417.2:p.(Gly300=)	NC_000022.10:g.20760223C>T	VUS	1 lab	4509d05731
22:18567890 PEX26 A>T	22	18567890	18567890	A	T	PEX26	c.680A>T	NM_001127649.2	NP_001121121.1:p.(His227Leu)	NC_000022.10:g.18567890A>T	(Likely) benign	1 lab	450b5e3394
14:23894610 MYH7 C>T	14	23894610	23894610	C	T	MYH7	c.2304G>A	NM_000257.2	NP_000248.2:p.(Gly768=)	NC_000014.8:g.23894610C>T	(Likely) benign	1 lab	450bca0405
8:145008617 PLEC T>C	8	145008617	145008617	T	C	PLEC	c.1453-4A>G	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145008617T>C	(Likely) benign	1 lab	450d82241b
10:6063540 IL2RA C>T	10	6063540	6063540	C	T	IL2RA	c.484G>A	NM_000417.2	NP_000408.1:p.(Gly162Ser)	NC_000010.10:g.6063540C>T	(Likely) benign	1 lab	450df3f5f3
X:151870123 MAGEA6 C>G	X	151870123	151870123	C	G	MAGEA6	c.813C>G	NM_175868.2	NP_787064.1:p.(Phe271Leu)	NC_000023.10:g.151870123C>G	(Likely) benign	1 lab	450e1b177d
6:32007849 CYP21A2 G>C	6	32007849	32007849	G	C	CYP21A2	c.806G>C	NM_000500.9	NP_000491.4:p.(Ser269Thr)	NC_000006.11:g.32007849G>C	(Likely) benign	1 lab	edda53cb8d
17:29653265 NF1 A>G	17	29653265	29653265	A	G	NF1	c.5200A>G	NM_000267.3	NP_000258.1:p.(Ile1734Val)	NC_000017.10:g.29653265A>G	(Likely) benign	1 lab	450f188248
16:3819284 CREBBP T>C	16	3819284	3819284	T	C	CREBBP	c.2951A>G	NM_004380.2	NP_004371.2:p.(Asn984Ser)	NC_000016.9:g.3819284T>C	(Likely) benign	1 lab	451011efaf
19:36220969 KMT2B C>T	19	36220969	36220969	C	T	KMT2B	c.5019C>T	NM_014727.2	NP_055542.1:p.(Ile1673=)	NC_000019.9:g.36220969C>T	(Likely) benign	1 lab	45107af71f
15:74637455 CYP11A1 G>A	15	74637455	74637455	G	A	CYP11A1	c.81C>T	NM_001099773.1	NP_001093243.1:p.(Arg27=)	NC_000015.9:g.74637455G>A	(Likely) benign	1 lab	45112e96ec
1:235918775 LYST T>C	1	235918775	235918775	T	C	LYST	c.7229+3A>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235918775T>C	(Likely) benign	1 lab	4514842f68
5:71491572 MAP1B C>T	5	71491572	71491572	C	T	MAP1B	c.2390C>T	NM_005909.5	NP_005900.2:p.(Ala797Val)	NC_000005.9:g.71491572C>T	(Likely) benign	1 lab	45170205ad
16:56904057 SLC12A3 C>T	16	56904057	56904057	C	T	SLC12A3	c.651C>T	NM_000339.2	NP_000330.2:p.(Gly217=)	NC_000016.9:g.56904057C>T	(Likely) benign	1 lab	4519521a23
16:2156482 PKD1 C>T	16	2156482	2156482	C	T	PKD1	c.7406G>A	NM_001009944.2	NP_001009944.2:p.(Arg2469His)	NC_000016.9:g.2156482C>T	VUS	1 lab	45199bf5b4
8:13356860 DLC1 G>C	8	13356860	13356860	G	C	DLC1	c.721C>G	NM_182643.2	NP_872584.2:p.(Pro241Ala)	NC_000008.10:g.13356860G>C	(Likely) benign	1 lab	451a89e643
5:37060961 NIPBL C>T	5	37060961	37060961	C	T	NIPBL	c.7701C>T	NM_015384.4	NP_056199.2:p.(Tyr2567=)	NC_000005.9:g.37060961C>T	(Likely) benign	1 lab	451c0ae42b
5:74046495 GFM2 A>G	5	74046495	74046495	A	G	GFM2	c.527-3T>C	NM_001281302.1	NP_001268231.1:p.?	NC_000005.9:g.74046495A>G	(Likely) benign	1 lab	451d81ff2b
4:126240207 FAT4 A>G	4	126240207	126240207	A	G	FAT4	c.2641A>G	NM_001291303.1	NP_001278232.1:p.(Ile881Val)	NC_000004.11:g.126240207A>G	VUS	1 lab	451ef45886
6:76744385 IMPG1 C>A	6	76744385	76744385	C	A	IMPG1	c.421G>T	NM_001563.3	NP_001554.2:p.(Gly141Ter)	NC_000006.11:g.76744385C>A	(Likely) pathogenic	1 lab	451f7af1bf
X:66931243 AR G>T	X	66931243	66931243	G	T	AR	c.1886-1G>T	NM_000044.4	NP_000035.2:p.?	NC_000023.10:g.66931243G>T	(Likely) pathogenic	1 lab	451fc74a14
17:7489351 MPDU1 T>C	17	7489351	7489351	T	C	MPDU1	c.257T>C	NM_004870.3	NP_004861.2:p.(Leu86Ser)	NC_000017.10:g.7489351T>C	(Likely) benign	1 lab	451feb2a57
2:26414235 HADHA C>T	2	26414235	26414235	C	T	HADHA	c.2176G>A	NM_000182.5	NP_000173.2:p.(Ala726Thr)	NC_000002.11:g.26414235C>T	VUS	1 lab	eddbc7df6c
15:20739657 GOLGA6L6 A>G	15	20739657	20739657	A	G	GOLGA6L6	c.2015T>C	NM_001145004.2	NP_001138476.2:p.(Met672Thr)	NC_000015.9:g.20739657A>G	VUS	1 lab	4520dda5b1
11:6568158 DNHD1 G>A	11	6568158	6568158	G	A	DNHD1	c.5989G>A	NM_144666.2	NP_653267.2:p.(Gly1997Ser)	NC_000011.9:g.6568158G>A	VUS	1 lab	4522014e61
4:106588712 ARHGEF38 T>G	4	106588712	106588712	T	G	ARHGEF38	c.2000T>G	NM_001242729.2	NP_001229658.1:p.(Leu667Arg)	NC_000004.11:g.106588712T>G	VUS	1 lab	4523aadc4a
3:148904436 CP C>T	3	148904436	148904436	C	T	CP	c.1948G>A	NM_000096.3	NP_000087.1:p.(Gly650Arg)	NC_000003.11:g.148904436C>T	(Likely) pathogenic	1 lab	4525561d8f
1:11847928 C1orf167 A>G	1	11847928	11847928	A	G	C1orf167	c.3674-2A>G	NM_001010881.1	NP_001010881.1:p.?	NC_000001.10:g.11847928A>G	VUS	1 lab	4526a58576
X:48054541 SSX5 G>A	X	48054541	48054541	G	A	SSX5	c.94C>T	NM_021015.3	NP_066295.3:p.(Arg32Cys)	NC_000023.10:g.48054541G>A	(Likely) benign	1 lab	4526b3d9fd
12:80645583 OTOGL T>C	12	80645583	80645583	T	C	OTOGL	c.1132+4T>C	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80645583T>C	(Likely) benign	1 lab	4527111b79
X:32663172 DMD G>A	X	32663172	32663172	G	A	DMD	c.689C>T	NM_004010.3	NP_004001.1:p.(Ser230Leu)	NC_000023.10:g.32663172G>A	VUS	1 lab	4528779b15
2:31754478 SRD5A2 A>T	2	31754478	31754478	A	T	SRD5A2	c.597T>A	NM_000348.3	NP_000339.2:p.(Ile199=)	NC_000002.11:g.31754478A>T	VUS	1 lab	452910d789
11:6650025 DCHS1 G>A	11	6650025	6650025	G	A	DCHS1				NC_000011.9:g.6650025G>A	VUS	1 lab	452949ef70
6:71004261 COL9A1 A>G	6	71004261	71004261	A	G	COL9A1	c.305T>C	NM_001851.4	NP_001842.3:p.(Leu102Ser)	NC_000006.11:g.71004261A>G	VUS	1 lab	45297a7099
17:44110564 KANSL1 A>G	17	44110564	44110564	A	G	KANSL1	c.2725-6T>C	NM_001193466.1	NP_001180395.1:p.?	NC_000017.10:g.44110564A>G	VUS	1 lab	452982b1da
12:124839414 NCOR2 C>A	12	124839414	124839414	C	A	NCOR2	c.3453G>T	NM_006312.5	NP_006303.4:p.(Gly1151=)	NC_000012.11:g.124839414C>A	(Likely) benign	1 lab	4529ff4e63
16:15857704 MYH11 C>T	16	15857704	15857704	C	T	MYH11	c.1099G>A	NM_001040113.1	NP_001035202.1:p.(Val367Ile)	NC_000016.9:g.15857704C>T	(Likely) benign	1 lab	452bcbcd08
8:22054183 BMP1 G>A	8	22054183	22054183	G	A	BMP1	c.1766-10G>A	NM_006129.4	NP_006120.1:p.?	NC_000008.10:g.22054183G>A	(Likely) benign	1 lab	452e9cb14d
2:47177525 TTC7A G>A	2	47177525	47177525	G	A	TTC7A	c.208G>A	NM_001288951.1	NP_001275880.1:p.(Ala70Thr)	NC_000002.11:g.47177525G>A	VUS	1 lab	452f3bc148
15:62234150 VPS13C C>T	15	62234150	62234150	C	T	VPS13C	c.5265G>A	NM_001018088.2	NP_001018098.1:p.(Leu1755=)	NC_000015.9:g.62234150C>T	(Likely) benign	1 lab	452fd0db4c
8:144992083 PLEC G>A	8	144992083	144992083	G	A	PLEC	c.12317C>T	NM_201380.3	NP_958782.1:p.(Ala4106Val)	NC_000008.10:g.144992083G>A	VUS	1 lab	453303e31c
10:73562724 CDH23 G>A	10	73562724	73562724	G	A	CDH23	c.7552G>A	NM_022124.5	NP_071407.4:p.(Val2518Met)	NC_000010.10:g.73562724G>A	VUS	1 lab	453379cae3
9:140094495 TPRN G>A	9	140094495	140094495	G	A	TPRN	c.669C>T	NM_001128228.3	NP_001121700.2:p.(Asn223=)	NC_000009.11:g.140094495G>A	(Likely) benign	1 lab	4533cdcc37
3:123376135 MYLK T>G	3	123376135	123376135	T	G	MYLK	c.4126A>C	NM_053025.4	NP_444253.3:p.(Lys1376Gln)	NC_000003.11:g.123376135T>G	VUS	1 lab	eddcd39535
X:102832060 TCEAL4 C>T	X	102832060	102832060	C	T	TCEAL4	c.102C>T	NM_001300901.1	NP_001287830.1:p.(Ile34=)	NC_000023.10:g.102832060C>T	(Likely) benign	1 lab	453738b8e8
12:120156126 CIT C>T	12	120156126	120156126	C	T	CIT	c.4092G>A	NM_001206999.1	NP_001193928.1:p.(Ser1364=)	NC_000012.11:g.120156126C>T	(Likely) benign	1 lab	45376a03ad
17:18155017 FLII G>A	17	18155017	18155017	G	A	FLII	c.1360C>T	NM_002018.3	NP_002009.1:p.(Gln454Ter)	NC_000017.10:g.18155017G>A	VUS	1 lab	45379f0ebf
8:126040884 WASHC5 C>T	8	126040884	126040884	C	T	WASHC5	c.3401G>A	NM_014846.3	NP_055661.3:p.(Arg1134Gln)	NC_000008.10:g.126040884C>T	(Likely) benign	1 lab	4538c7474d
X:153582072 FLNA C>T	X	153582072	153582072	C	T	FLNA	c.5686G>A	NM_001456.4	NP_001447.2:p.(Gly1896Ser)	NC_000023.10:g.153582072C>T	VUS	1 lab	edde3e8c7b
17:76486850 DNAH17 G>A	17	76486850	76486850	G	A	DNAH17	c.6749C>T	NM_173628.4	NP_775899.3:p.(Thr2250Met)	NC_000017.10:g.76486850G>A	VUS	1 lab	eddf1899e3
13:101755615 NALCN G>A	13	101755615	101755615	G	A	NALCN	c.2965C>T	NM_052867.4	NP_443099.1:p.(Arg989Trp)	NC_000013.10:g.101755615G>A	VUS	1 lab	eddf3d8a97
12:52963672 KRT74 G>A	12	52963672	52963672	G	A	KRT74	c.1105C>T	NM_175053.4	NP_778223.2:p.(Arg369Trp)	NC_000012.11:g.52963672G>A	VUS	1 lab	ede11893d2
10:88478528 LDB3 C>T	10	88478528	88478528	C	T	LDB3	c.1917C>T	NM_001171610.1	NP_001165081.1:p.(Phe639=)	NC_000010.10:g.88478528C>T	(Likely) benign	1 lab	453b85c6ad
13:25480367 CPAP CCTTT>C	13	25480367	25480373	CCTTT	C	CPAP	c.1805_1808del	NM_018451.5	NP_060921.3:p.(Glu602GlyfsTer65)	NC_000013.10:g.25480370_25480373del	(Likely) pathogenic	1 lab	453c7c2039
4:104101516 CENPE T>C	4	104101516	104101516	T	C	CENPE	c.1194A>G	NM_001813.2	NP_001804.2:p.(Thr398=)	NC_000004.11:g.104101516T>C	(Likely) benign	1 lab	453f240942
5:178413407 GRM6 G>A	5	178413407	178413407	G	A	GRM6	c.1848C>T	NM_000843.4	NP_000834.2:p.(Val616=)	NC_000005.9:g.178413407G>A	(Likely) benign	1 lab	4542c98321
14:74428286 COQ6 A>G	14	74428286	74428286	A	G	COQ6	c.1210+13A>G	NM_182476.3	NP_872282.1:p.?	NC_000014.8:g.74428286A>G	(Likely) benign	1 lab	ede1b00985
10:123353315 FGFR2 C>G	10	123353315	123353315	C	G	FGFR2	c.17G>C	NM_000141.4	NP_000132.3:p.(Arg6Pro)	NC_000010.10:g.123353315C>G	(Likely) benign	1 lab	4544e29be4
16:71019225 HYDIN G>A	16	71019225	71019225	G	A	HYDIN	c.4195C>T	NM_001270974.2	NP_001257903.1:p.(Leu1399=)	NC_000016.9:g.71019225G>A	(Likely) benign	1 lab	4547f2b739
9:35057531 VCP T>C	9	35057531	35057531	T	C	VCP	c.2026-4A>G	NM_001354928.1	NP_001341857.1:p.?	NC_000009.11:g.35057531T>C	(Likely) benign	1 lab	45494b60c7
3:52386692 DNAH1 G>A	3	52386692	52386692	G	A	DNAH1	c.2996G>A	NM_015512.4	NP_056327.4:p.(Arg999His)	NC_000003.11:g.52386692G>A	VUS	1 lab	4549cb0198
X:17092285 REPS2 A>G	X	17092285	17092285	A	G	REPS2	c.1379+3A>G	NM_004726.2	NP_004717.2:p.?	NC_000023.10:g.17092285A>G	VUS	1 lab	454ba6f0c7
12:78388627 NAV3 C>A	12	78388627	78388627	C	A	NAV3	c.716C>A	NM_001024383.2	NP_001019554.1:p.(Ala239Glu)	NC_000012.11:g.78388627C>A	VUS	1 lab	454be4f4f7
9:135786879 TSC1 C>CA	9	135786879	135786880	C	CA	TSC1	c.989dup	NM_000368.4	NP_000359.1:p.(Ser331GlufsTer10)	NC_000009.11:g.135786880dup	(Likely) pathogenic	1 lab	454cfdf56e
2:190426750 SLC40A1 C>T	2	190426750	190426750	C	T	SLC40A1	c.1570G>A	NM_014585.6	NP_055400.1:p.(Val524Ile)	NC_000002.11:g.190426750C>T	VUS	1 lab	ede3cfac47
6:35773552 LHFPL5 C>A	6	35773552	35773552	C	A	LHFPL5	c.105C>A	NM_182548.4	NP_872354.1:p.(Cys35Ter)	NC_000006.11:g.35773552C>A	(Likely) pathogenic	1 lab	4551a5caaa
3:97661214 CRYBG3 G>A	3	97661214	97661214	G	A	CRYBG3	c.8751G>A	NM_153605.4	NP_705833.3:p.(Arg2917=)	NC_000003.11:g.97661214G>A	(Likely) benign	1 lab	4552cfbc08
3:121500619 IQCB1 G>A	3	121500619	121500619	G	A	IQCB1	c.1381C>T	NM_001023570.3	NP_001018864.2:p.(Arg461Ter)	NC_000003.11:g.121500619G>A	(Likely) pathogenic	1 lab	45546b0e59
2:217285086 SMARCAL1 C>T	2	217285086	217285086	C	T	SMARCAL1	c.927C>T	NM_014140.3	NP_054859.2:p.(Ser309=)	NC_000002.11:g.217285086C>T	VUS	1 lab	4554b0d278
10:55582711 PCDH15 G>T	10	55582711	55582711	G	T	PCDH15	c.4796C>A	NM_001142763.1	NP_001136235.1:p.(Pro1599Gln)	NC_000010.10:g.55582711G>T	VUS	1 lab	4555faa202
15:86801261 AGBL1 A>G	15	86801261	86801261	A	G	AGBL1	c.968A>G	NM_152336.3	NP_689549.3:p.(Glu323Gly)	NC_000015.9:g.86801261A>G	VUS	1 lab	4556bb3074
22:20051020 TANGO2 T>C	22	20051020	20051020	T	C	TANGO2	c.888T>C	NM_001322141.1	NP_001309070.1:p.(Ala296=)	NC_000022.10:g.20051020T>C	(Likely) benign	1 lab	4556c9bbab
22:19882976 TXNRD2 G>A	22	19882976	19882976	G	A	TXNRD2	c.903C>T	NM_006440.3	NP_006431.2:p.(Thr301=)	NC_000022.10:g.19882976G>A	(Likely) benign	1 lab	4558f27b38
17:40714731 COASY C>T	17	40714731	40714731	C	T	COASY	c.91C>T	NM_025233.6	NP_079509.5:p.(Arg31Trp)	NC_000017.10:g.40714731C>T	VUS	1 lab	455aba8ec5
17:29559932 NF1 C>A	17	29559932	29559932	C	A	NF1	c.3496+33C>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559932C>A	(Likely) benign	1 lab	455abf7d72
8:11180146 MTMR9 G>A	8	11180146	11180146	G	A	MTMR9	c.1499G>A	NM_015458.4	NP_056273.2:p.(Arg500His)	NC_000008.10:g.11180146G>A	VUS	1 lab	455e97c059
1:120462877 NOTCH2 C>T	1	120462877	120462877	C	T	NOTCH2	c.5454G>A	NM_024408.3	NP_077719.2:p.(Val1818=)	NC_000001.10:g.120462877C>T	(Likely) benign	1 lab	455ebad0e3
19:44739536 ZNF227 A>G	19	44739536	44739536	A	G	ZNF227	c.953A>G	NM_001289166.1	NP_001276095.1:p.(His318Arg)	NC_000019.9:g.44739536A>G	(Likely) benign	1 lab	455f2269dd
11:6643110 DCHS1 G>A	11	6643110	6643110	G	A	DCHS1				NC_000011.9:g.6643110G>A	VUS	1 lab	455f26556a
12:53715194 AAAS T>C	12	53715194	53715194	T	C	AAAS	c.56A>G	NM_015665.5	NP_056480.1:p.(Tyr19Cys)	NC_000012.11:g.53715194T>C	VUS	1 lab	4560129797
20:31369174 DNMT3B C>T	20	31369174	31369174	C	T	DNMT3B	c.158C>T	NM_006892.3	NP_008823.1:p.(Ser53Leu)	NC_000020.10:g.31369174C>T	(Likely) benign	1 lab	45738e839a
4:119273825 PRSS12 T>C	4	119273825	119273825	T	C	PRSS12	c.51A>G	NM_003619.3	NP_003610.2:p.(Glu17=)	NC_000004.11:g.119273825T>C	(Likely) benign	1 lab	4561ff0845
2:179666980 TTN A>G	2	179666980	179666980	A	G	TTN	c.180T>C	NM_001267550.1	NP_001254479.1:p.(Asp60=)	NC_000002.11:g.179666980A>G	(Likely) benign	1 lab	45667915bb
15:43821579 MAP1A T>C	15	43821579	43821579	T	C	MAP1A	c.7908T>C	NM_002373.6	NP_002364.5:p.(Pro2636=)	NC_000015.9:g.43821579T>C	(Likely) benign	1 lab	45672a68df
16:88504588 ZNF469 G>A	16	88504588	88504588	G	A	ZNF469				NC_000016.9:g.88504588G>A	(Likely) benign	1 lab	4567990436
1:2330934 RER1 T>C	1	2330934	2330934	T	C	RER1	c.267T>C	NM_007033.4	NP_008964.3:p.(Pro89=)	NC_000001.10:g.2330934T>C	(Likely) benign	1 lab	45691d517b
11:6653941 DCHS1 A>C	11	6653941	6653941	A	C	DCHS1				NC_000011.9:g.6653941A>C	(Likely) benign	1 lab	dbf446ef2d
17:29490231 NF1 GAAAC>G	17	29490231	29490235	GAAAC	G	NF1	c.317_320del	NM_001042492.3	NP_001035957.1:p.(Glu106GlyfsTer58)	NC_000017.10:g.29490232_29490235del	(Likely) pathogenic	1 lab	456a7f911d
12:49433002 KMT2D C>T	12	49433002	49433002	C	T	KMT2D	c.8366+3G>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49433002C>T	(Likely) benign	1 lab	456b13debb
20:6096550 FERMT1 C>T	20	6096550	6096550	C	T	FERMT1	c.293G>A	NM_017671.4	NP_060141.3:p.(Arg98His)	NC_000020.10:g.6096550C>T	VUS	1 lab	456c12f331
7:44102418 PGAM2 T>G	7	44102418	44102418	T	G	PGAM2	c.707A>C	NM_000290.3	NP_000281.2:p.(Glu236Ala)	NC_000007.13:g.44102418T>G	(Likely) benign	1 lab	456f661337
16:23649170 PALB2 C>A	16	23649170	23649170	C	A	PALB2	c.211+1G>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649170C>A	(Likely) pathogenic	1 lab	ede689432e
X:152864513 CCNQ G>GC	X	152864513	152864515	G	GC	CCNQ	c.16_18=	NM_152274.5	NP_689487.2:p.(Gly6=)	NC_000023.10:g.152864515dup	(Likely) benign	1 lab	ede6e44c37
17:38519227 GJD3 C>T	17	38519227	38519227	C	T	GJD3	c.841G>A	NM_152219.3	NP_689343.3:p.(Gly281Ser)	NC_000017.10:g.38519227C>T	(Likely) benign	1 lab	45752a4f8f
11:64532875 SF1 C>T	11	64532875	64532875	C	T	SF1	c.1903G>A	NM_201995.2	NP_973724.1:p.(Gly635Ser)	NC_000011.9:g.64532875C>T	(Likely) benign	1 lab	4575fc6c50
2:110927584 NPHP1 A>C	2	110927584	110927584	A	C	NPHP1	c.330-9T>G	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110927584A>C	(Likely) benign	1 lab	457663573f
X:14876002 FANCB A>G	X	14876002	14876002	A	G	FANCB	c.1179T>C	NM_001018113.1	NP_001018123.1:p.(Pro393=)	NC_000023.10:g.14876002A>G	(Likely) benign	1 lab	45766917ac
X:13757161 OFD1 G>A	X	13757161	13757161	G	A	OFD1	c.-134+10G>A	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13757161G>A	(Likely) benign	1 lab	4578e09043
15:85399869 ALPK3 C>T	15	85399869	85399869	C	T	ALPK3	c.2506C>T	NM_020778.4	NP_065829.3:p.(Arg836Cys)	NC_000015.9:g.85399869C>T	(Likely) benign	1 lab	457b154944
19:578031 BSG C>T	19	578031	578031	C	T	BSG	c.325C>T	NM_001728.3	NP_001719.2:p.(Arg109Trp)	NC_000019.9:g.578031C>T	VUS	1 lab	457b7fc4c4
4:5733202 EVC G>A	4	5733202	5733202	G	A	EVC	c.435G>A	NM_153717.2	NP_714928.1:p.(Gln145=)	NC_000004.11:g.5733202G>A	(Likely) benign	1 lab	457fb115a3
10:56138570 PCDH15 T>C	10	56138570	56138570	T	C	PCDH15				NC_000010.10:g.56138570T>C	(Likely) benign	1 lab	457ff7a8a4
5:127647067 FBN2 T>C	5	127647067	127647067	T	C	FBN2	c.4999A>G	NM_001999.3	NP_001990.2:p.(Ile1667Val)	NC_000005.9:g.127647067T>C	VUS	1 lab	45801de6bd
20:419437 TBC1D20 C>T	20	419437	419437	C	T	TBC1D20	c.1005G>A	NM_144628.3	NP_653229.1:p.(Gln335=)	NC_000020.10:g.419437C>T	(Likely) benign	1 lab	45807d776c
19:55441889 NLRP7 T>A	19	55441889	55441889	T	A	NLRP7	c.2788A>T	NM_001127255.1	NP_001120727.1:p.(Asn930Tyr)	NC_000019.9:g.55441889T>A	(Likely) benign	1 lab	45820d8793
3:132295859 ACAD11 T>C	3	132295859	132295859	T	C	ACAD11	c.1775A>G	NM_032169.5	NP_115545.3:p.(Asp592Gly)	NC_000003.11:g.132295859T>C	VUS	1 lab	ede738ae75
15:43895558 STRC G>C	15	43895558	43895558	G	C	STRC	c.4427C>G	NM_153700.2	NP_714544.1:p.(Ser1476Cys)	NC_000015.9:g.43895558G>C	VUS	1 lab	458342508d
7:47930313 PKD1L1 G>A	7	47930313	47930313	G	A	PKD1L1	c.2502C>T	NM_138295.4	NP_612152.1:p.(Phe834=)	NC_000007.13:g.47930313G>A	(Likely) benign	1 lab	4583c5cb23
11:58949657 DTX4 G>T	11	58949657	58949657	G	T	DTX4	c.657G>T	NM_015177.2	NP_055992.1:p.(Lys219Asn)	NC_000011.9:g.58949657G>T	(Likely) benign	1 lab	4584163ebc
3:38593003 SCN5A C>T	3	38593003	38593003	C	T	SCN5A	c.4860G>A	NM_198056.2	NP_932173.1:p.(Thr1620=)	NC_000003.11:g.38593003C>T	(Likely) benign	1 lab	45855c8850
X:48418123 TBC1D25 C>T	X	48418123	48418123	C	T	TBC1D25	c.827C>T	NM_002536.3	NP_002527.1:p.(Ala276Val)	NC_000023.10:g.48418123C>T	(Likely) benign	1 lab	4586882630
9:27567099 C9orf72 G>A	9	27567099	27567099	G	A	C9orf72	c.20C>T	NM_001256054.1	NP_001242983.1:p.(Pro7Leu)	NC_000009.11:g.27567099G>A	VUS	1 lab	458718dc01
2:241679756 KIF1A G>A	2	241679756	241679756	G	A	KIF1A	c.3775C>T	NM_001244008.1	NP_001230937.1:p.(Arg1259Cys)	NC_000002.11:g.241679756G>A	VUS	1 lab	45897a1277
16:71009099 HYDIN G>T	16	71009099	71009099	G	T	HYDIN	c.4712C>A	NM_001270974.2	NP_001257903.1:p.(Thr1571Asn)	NC_000016.9:g.71009099G>T	(Likely) benign	1 lab	458addedb5
1:216363577 USH2A T>G	1	216363577	216363577	T	G	USH2A	c.4384A>C	NM_206933.2	NP_996816.2:p.(Thr1462Pro)	NC_000001.10:g.216363577T>G	VUS	1 lab	458ae382d0
9:14851418 FREM1 G>C	9	14851418	14851418	G	C	FREM1	c.1016C>G	NM_144966.5	NP_659403.4:p.(Ala339Gly)	NC_000009.11:g.14851418G>C	(Likely) benign	1 lab	458c83dd74
11:1271951 MUC5B C>T	11	1271951	1271951	C	T	MUC5B	c.13841C>T	NM_002458.2	NP_002449.2:p.(Thr4614Met)	NC_000011.9:g.1271951C>T	VUS	1 lab	458d8228af
19:36223477 KMT2B C>T	19	36223477	36223477	C	T	KMT2B	c.6027C>T	NM_014727.2	NP_055542.1:p.(Ala2009=)	NC_000019.9:g.36223477C>T	(Likely) benign	1 lab	458d8b77cf
1:65871640 DNAJC6 C>A	1	65871640	65871640	C	A	DNAJC6	c.2315C>A	NM_001256864.2	NP_001243793.1:p.(Pro772His)	NC_000001.10:g.65871640C>A	VUS	1 lab	458de4c0f9
16:1630786 IFT140 T>C	16	1630786	1630786	T	C	IFT140	c.1498A>G	NM_014714.3	NP_055529.2:p.(Asn500Asp)	NC_000016.9:g.1630786T>C	VUS	1 lab	458df08b02
15:57554338 TCF12 C>G	15	57554338	57554338	C	G	TCF12	c.1514C>G	NM_207037.1	NP_996920.1:p.(Ser505Ter)	NC_000015.9:g.57554338C>G	(Likely) pathogenic	1 lab	458e63843c
2:241700207 KIF1A G>A	2	241700207	241700207	G	A	KIF1A	c.2319C>T	NM_001244008.1	NP_001230937.1:p.(Pro773=)	NC_000002.11:g.241700207G>A	(Likely) benign	1 lab	458f7434e9
22:19902804 TXNRD2 G>A	22	19902804	19902804	G	A	TXNRD2	c.529-5C>T	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19902804G>A	(Likely) benign	1 lab	edeaa43896
8:48777296 PRKDC G>C	8	48777296	48777296	G	C	PRKDC	c.5392C>G	NM_006904.6	NP_008835.5:p.(Leu1798Val)	NC_000008.10:g.48777296G>C	VUS	1 lab	4590d66591
12:10961741 TAS2R9 G>A	12	10961741	10961741	G	A	TAS2R9	c.934C>T	NM_023917.2	NP_076406.1:p.(Pro312Ser)	NC_000012.11:g.10961741G>A	(Likely) benign	1 lab	4591263b42
2:179396400 TTN T>G	2	179396400	179396400	T	G	TTN	c.104942A>C	NM_001267550.2	NP_001254479.2:p.(Glu34981Ala)	NC_000002.11:g.179396400T>G	VUS	1 lab	eded2bb761
1:196762616 CFHR3 G>C	1	196762616	196762616	G	C	CFHR3	c.966G>C	NM_021023.5	NP_066303.2:p.(Gly322=)	NC_000001.10:g.196762616G>C	(Likely) benign	1 lab	4591bc117c
12:51077026 DIP2B A>G	12	51077026	51077026	A	G	DIP2B	c.1312A>G	NM_173602.3	NP_775873.2:p.(Arg438Gly)	NC_000012.11:g.51077026A>G	VUS	1 lab	edf163b024
21:46900077 COL18A1 C>G	21	46900077	46900077	C	G	COL18A1	c.1398+7C>G	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46900077C>G	(Likely) benign	1 lab	459610a92b
16:3790490 CREBBP C>A	16	3790490	3790490	C	A	CREBBP	c.4043G>T	NM_004380.3	NP_004371.2:p.(Arg1348Leu)	NC_000016.9:g.3790490C>A	VUS	1 lab	edf4ff703f
18:21479339 LAMA3 G>A	18	21479339	21479339	G	A	LAMA3	c.1097G>A	NM_000227.6	NP_000218.3:p.(Arg366His)	NC_000018.9:g.21479339G>A	VUS	1 lab	edf6d9be71
1:203044784 PPFIA4 T>C	1	203044784	203044784	T	C	PPFIA4	c.3473T>C	NM_001304331.1	NP_001291260.1:p.(Met1158Thr)	NC_000001.10:g.203044784T>C	(Likely) benign	1 lab	4597f8ce05
18:56196451 ALPK2 C>T	18	56196451	56196451	C	T	ALPK2	c.5373G>A	NM_052947.4	NP_443179.3:p.(Lys1791=)	NC_000018.9:g.56196451C>T	(Likely) benign	1 lab	4598b966f5
5:137521656 KIF20A A>G	5	137521656	137521656	A	G	KIF20A	c.2132A>G	NM_005733.3	NP_005724.1:p.(His711Arg)	NC_000005.9:g.137521656A>G	(Likely) benign	1 lab	4599946adc
14:53619388 DDHD1 C>T	14	53619388	53619388	C	T	DDHD1	c.429G>A	NM_001160148.1	NP_001153620.1:p.(Arg143=)	NC_000014.8:g.53619388C>T	(Likely) benign	1 lab	459a95d8a2
8:61139494 CA8 T>C	8	61139494	61139494	T	C	CA8	c.514A>G	NM_004056.5	NP_004047.3:p.(Ile172Val)	NC_000008.10:g.61139494T>C	(Likely) benign	1 lab	459ab0ac7d
20:34021879 GDF5 T>C	20	34021879	34021879	T	C	GDF5	c.1334A>G	NM_000557.4	NP_000548.2:p.(Asn445Ser)	NC_000020.10:g.34021879T>C	VUS	1 lab	459afe0674
4:128843056 MFSD8 A>G	4	128843056	128843056	A	G	MFSD8	c.1061T>C	NM_152778.2	NP_689991.1:p.(Leu354Ser)	NC_000004.11:g.128843056A>G	VUS	1 lab	459d7cbaa5
5:73205679 ARHGEF28 G>T	5	73205679	73205679	G	T	ARHGEF28	c.4604G>T	NM_001080479.2	NP_001073948.2:p.(Arg1535Leu)	NC_000005.9:g.73205679G>T	VUS	1 lab	459dc31c23
12:49431400 KMT2D G>A	12	49431400	49431400	G	A	KMT2D	c.9739C>T	NM_003482.3	NP_003473.3:p.(Leu3247=)	NC_000012.11:g.49431400G>A	(Likely) benign	1 lab	459df5b011
2:179409208 TTN T>A	2	179409208	179409208	T	A	TTN	c.95748A>T	NM_001267550.1	NP_001254479.1:p.(Pro31916=)	NC_000002.11:g.179409208T>A	(Likely) benign	1 lab	459ed4c11a
5:35867540 IL7R C>CA	5	35867540	35867547	C	CA	IL7R	c.361dup	NM_002185.2	NP_002176.2:p.(Ile121AsnfsTer8)	NC_000005.9:g.35867547dup	(Likely) pathogenic	1 lab	459fd97358
18:28667790 DSC2 A>AT	18	28667790	28667791	A	AT	DSC2	c.631-15_631-14insA	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28667790_28667791insT	(Likely) benign	1 lab	edf9be201d
14:64604534 SYNE2 C>T	14	64604534	64604534	C	T	SYNE2	c.14676C>T	NM_182914.2	NP_878918.2:p.(His4892=)	NC_000014.8:g.64604534C>T	(Likely) benign	1 lab	45a22b0e11
12:49420110 KMT2D C>T	12	49420110	49420110	C	T	KMT2D	c.15639G>A	NM_003482.3	NP_003473.3:p.(Thr5213=)	NC_000012.11:g.49420110C>T	(Likely) benign	1 lab	45a31dd8c0
17:41245014 BRCA1 A>G	17	41245014	41245014	A	G	BRCA1	c.2534T>C	NM_007294.3	NP_009225.1:p.(Ile845Thr)	NC_000017.10:g.41245014A>G	(Likely) benign	1 lab	45a44d9bda
15:49293150 SECISBP2L T>C	15	49293150	49293150	T	C	SECISBP2L	c.2172A>G	NM_001193489.2	NP_001180418.1:p.(Glu724=)	NC_000015.9:g.49293150T>C	(Likely) benign	1 lab	45a46bffcd
12:80749634 OTOGL C>G	12	80749634	80749634	C	G	OTOGL	c.5685C>G	NM_173591.3	NP_775862.3:p.(Asp1895Glu)	NC_000012.11:g.80749634C>G	(Likely) benign	1 lab	45a61e273e
3:168833976 MECOM C>T	3	168833976	168833976	C	T	MECOM	c.1120G>A	NM_001105078.4	NP_001098548.2:p.(Glu374Lys)	NC_000003.11:g.168833976C>T	(Likely) benign	1 lab	edfb1d83eb
7:21828852 DNAH11 T>C	7	21828852	21828852	T	C	DNAH11				NC_000007.13:g.21828852T>C	(Likely) benign	1 lab	45a648477a
3:37050390 MLH1 T>G	3	37050390	37050390	T	G	MLH1	c.539T>G	NM_000249.4	NP_000240.1:p.(Val180Gly)	NC_000003.11:g.37050390T>G	VUS	1 lab	edfde95d80
X:149814261 MTM1 G>A	X	149814261	149814261	G	A	MTM1	c.784G>A	NM_000252.2	NP_000243.1:p.(Asp262Asn)	NC_000023.10:g.149814261G>A	(Likely) benign	1 lab	45a78baa31
X:24075585 EIF2S3 A>G	X	24075585	24075585	A	G	EIF2S3	c.181A>G	NM_001415.3	NP_001406.1:p.(Ile61Val)	NC_000023.10:g.24075585A>G	(Likely) benign	1 lab	45a98c8cfe
X:118123468 LONRF3 G>A	X	118123468	118123468	G	A	LONRF3	c.1157G>A	NM_001031855.2	NP_001027026.1:p.(Gly386Asp)	NC_000023.10:g.118123468G>A	(Likely) benign	1 lab	45ac643639
19:2115275 AP3D1 G>A	19	2115275	2115275	G	A	AP3D1	c.2292C>T	NM_001261826.3	NP_001248755.1:p.(Ser764=)	NC_000019.9:g.2115275G>A	(Likely) benign	1 lab	45aeb0aafc
7:83098560 SEMA3E G>A	7	83098560	83098560	G	A	SEMA3E	c.335C>T	NM_012431.3	NP_036563.1:p.(Ala112Val)	NC_000007.13:g.83098560G>A	(Likely) benign	1 lab	45b113d413
11:64956077 CAPN1 T>C	11	64956077	64956077	T	C	CAPN1	c.1025T>C	NM_001198868.1	NP_001185797.1:p.(Met342Thr)	NC_000011.9:g.64956077T>C	VUS	1 lab	45b1b00b83
X:153594383 FLNA C>T	X	153594383	153594383	C	T	FLNA	c.1429+9G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153594383C>T	(Likely) benign	1 lab	45b39930f0
17:78081447 GAA G>A	17	78081447	78081447	G	A	GAA	c.784G>A	NM_000152.3	NP_000143.2:p.(Glu262Lys)	NC_000017.10:g.78081447G>A	(Likely) pathogenic	1 lab	45b3beddf6
8:43052858 HGSNAT G>C	8	43052858	43052858	G	C	HGSNAT	c.1673G>C	NM_001363227.1	NP_001350156.1:p.(Gly558Ala)	NC_000008.10:g.43052858G>C	VUS	1 lab	45b3dc7e0e
10:112361879 SMC3 A>G	10	112361879	112361879	A	G	SMC3	c.3048A>G	NM_005445.3	NP_005436.1:p.(Glu1016=)	NC_000010.10:g.112361879A>G	(Likely) benign	1 lab	45b46b5469
3:47033970 NBEAL2 C>T	3	47033970	47033970	C	T	NBEAL2	c.1038C>T	NM_015175.2	NP_055990.1:p.(Tyr346=)	NC_000003.11:g.47033970C>T	(Likely) benign	1 lab	45b5dfdaf0
7:45104228 CCM2 T>C	7	45104228	45104228	T	C	CCM2	c.455T>C	NM_031443.3	NP_113631.1:p.(Leu152Pro)	NC_000007.13:g.45104228T>C	VUS	1 lab	45b90317e5
9:127265438 NR5A1 C>T	9	127265438	127265438	C	T	NR5A1	c.164G>A	NM_004959.4	NP_004950.2:p.(Cys55Tyr)	NC_000009.11:g.127265438C>T	VUS	1 lab	45ba1e1c06
1:150483951 ECM1 C>T	1	150483951	150483951	C	T	ECM1	c.808C>T	NM_001202858.1	NP_001189787.1:p.(Arg270Ter)	NC_000001.10:g.150483951C>T	(Likely) pathogenic	1 lab	45badce0fb
9:304646 DOCK8 C>T	9	304646	304646	C	T	DOCK8	c.470C>T	NM_203447.3	NP_982272.2:p.(Thr157Met)	NC_000009.11:g.304646C>T	(Likely) benign	1 lab	45bee9e6b7
X:153595013 FLNA G>A	X	153595013	153595013	G	A	FLNA	c.988-6C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153595013G>A	(Likely) benign	1 lab	45befcdd93
17:29527613 NF1 G>C	17	29527613	29527613	G	C	NF1	c.1062G>C	NM_000267.3	NP_000258.1:p.(Lys354Asn)	NC_000017.10:g.29527613G>C	VUS	1 lab	45c179a0db
19:54313614 NLRP12 T>C	19	54313614	54313614	T	C	NLRP12	c.1299A>G	NM_001277126.1	NP_001264055.1:p.(Ala433=)	NC_000019.9:g.54313614T>C	(Likely) benign	1 lab	45c3d155e3
12:123281928 CCDC62 C>T	12	123281928	123281928	C	T	CCDC62	c.847C>T	NM_201435.4	NP_958843.2:p.(His283Tyr)	NC_000012.11:g.123281928C>T	VUS	1 lab	45c84ebd43
6:152651713 SYNE1 C>T	6	152651713	152651713	C	T	SYNE1	c.14107G>A	NM_182961.3	NP_892006.3:p.(Asp4703Asn)	NC_000006.11:g.152651713C>T	(Likely) benign	1 lab	45c9bb0592
7:151836340 KMT2C C>T	7	151836340	151836340	C	T	KMT2C	c.14465G>A	NM_170606.2	NP_733751.2:p.(Arg4822His)	NC_000007.13:g.151836340C>T	VUS	1 lab	45caa7e36b
X:153695703 PLXNA3 G>A	X	153695703	153695703	G	A	PLXNA3	c.3330G>A	NM_017514.4	NP_059984.3:p.(Thr1110=)	NC_000023.10:g.153695703G>A	(Likely) benign	1 lab	45cbd480ed
18:50923713 DCC A>G	18	50923713	50923713	A	G	DCC	c.2724A>G	NM_005215.3	NP_005206.2:p.(Thr908=)	NC_000018.9:g.50923713A>G	(Likely) benign	1 lab	45cbe5a476
1:22970615 C1QC C>T	1	22970615	22970615	C	T	C1QC	c.99C>T	NM_001114101.1	NP_001107573.1:p.(Tyr33=)	NC_000001.10:g.22970615C>T	(Likely) benign	1 lab	45cbea51ff
9:100235915 TDRD7 C>T	9	100235915	100235915	C	T	TDRD7	c.2079+7C>T	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100235915C>T	(Likely) benign	1 lab	45cc60a552
16:68344265 SLC7A6OS A>C	16	68344265	68344265	A	C	SLC7A6OS	c.444T>G	NM_032178.3	NP_115554.2:p.(Pro148=)	NC_000016.9:g.68344265A>C	(Likely) benign	1 lab	45ceb4dd8f
6:38998040 DNAH8 G>T	6	38998040	38998040	G	T	DNAH8	c.13996G>T	NM_001206927.1	NP_001193856.1:p.(Val4666Leu)	NC_000006.11:g.38998040G>T	VUS	1 lab	45cef23528
11:76893499 MYO7A C>A	11	76893499	76893499	C	A	MYO7A	c.3139C>A	NM_000260.3	NP_000251.3:p.(Arg1047Ser)	NC_000011.9:g.76893499C>A	VUS	1 lab	45d1211989
17:30806270 PSMD11 C>T	17	30806270	30806270	C	T	PSMD11	c.914C>T	NM_001270482.1	NP_001257411.1:p.(Ala305Val)	NC_000017.10:g.30806270C>T	VUS	1 lab	45d1f9979d
7:101840476 CUX1 A>G	7	101840476	101840476	A	G	CUX1	c.1818A>G	NM_001202543.1	NP_001189472.1:p.(Pro606=)	NC_000007.13:g.101840476A>G	(Likely) benign	1 lab	45d29cc462
17:29654793 NF1 G>T	17	29654793	29654793	G	T	NF1	c.5482G>T	NM_000267.3	NP_000258.1:p.(Asp1828Tyr)	NC_000017.10:g.29654793G>T	(Likely) pathogenic	1 lab	45d2e6f574
14:91745593 CCDC88C A>G	14	91745593	91745593	A	G	CCDC88C	c.4757T>C	NM_001080414.3	NP_001073883.2:p.(Leu1586Pro)	NC_000014.8:g.91745593A>G	VUS	1 lab	45d3598190
4:6303836 WFS1 C>T	4	6303836	6303836	C	T	WFS1	c.2314C>T	NM_006005.3	NP_005996.2:p.(Arg772Cys)	NC_000004.11:g.6303836C>T	VUS	1 lab	4a3972faaa
14:75248669 YLPM1 G>A	14	75248669	75248669	G	A	YLPM1	c.1923G>A	NM_019589.3	NP_062535.2:p.(Gly641=)	NC_000014.8:g.75248669G>A	(Likely) benign	1 lab	45d36de9b5
11:17631867 OTOG A>G	11	17631867	17631867	A	G	OTOG	c.5056A>G	NM_001277269.1	NP_001264198.1:p.(Lys1686Glu)	NC_000011.9:g.17631867A>G	VUS	1 lab	45d4b83499
15:51868380 DMXL2 T>TAA	15	51868380	51868400	T	TAA	DMXL2	c.88-4_88-3dup	NM_001174116.3	NP_001167587.1:p.?	NC_000015.9:g.51868399_51868400dup	(Likely) benign	1 lab	edfee3d52b
5:90051001 ADGRV1 C>G	5	90051001	90051001	C	G	ADGRV1	c.11579C>G	NM_032119.4	NP_115495.3:p.(Pro3860Arg)	NC_000005.9:g.90051001C>G	VUS	1 lab	45dc76e3d3
5:13793707 DNAH5 T>C	5	13793707	13793707	T	C	DNAH5	c.8141A>G	NM_001369.3	NP_001360.1:p.(Asn2714Ser)	NC_000005.9:g.13793707T>C	VUS	1 lab	edff32d83b
19:44012121 ETHE1 C>A	19	44012121	44012121	C	A	ETHE1	c.687G>T	NM_014297.4	NP_055112.2:p.(Leu229=)	NC_000019.9:g.44012121C>A	(Likely) benign	1 lab	45dce42668
12:31605276 DENND5B G>A	12	31605276	31605276	G	A	DENND5B	c.1332C>T	NM_001308339.1	NP_001295268.1:p.(Gly444=)	NC_000012.11:g.31605276G>A	(Likely) benign	1 lab	45dd16955e
21:34877928 GART T>C	21	34877928	34877928	T	C	GART	c.2665A>G	NM_001136005.1	NP_001129477.1:p.(Ile889Val)	NC_000021.8:g.34877928T>C	VUS	1 lab	45dd8a3d02
15:31339365 TRPM1 G>T	15	31339365	31339365	G	T	TRPM1	c.1764C>A	NM_001252020.1	NP_001238949.1:p.(Tyr588Ter)	NC_000015.9:g.31339365G>T	(Likely) pathogenic	1 lab	45dda7e1eb
19:10277332 DNMT1 G>A	19	10277332	10277332	G	A	DNMT1	c.785C>T	NM_001379.3	NP_001370.1:p.(Pro262Leu)	NC_000019.9:g.10277332G>A	(Likely) benign	1 lab	45de706f8d
3:48508191 TREX1 GC>G	3	48508191	48508198	GC	G	TREX1	c.144del	NM_033629.6	NP_338599.1:p.(Thr49ProfsTer16)	NC_000003.11:g.48508198del	(Likely) pathogenic	1 lab	45de8e8b37
10:61926572 ANK3 A>G	10	61926572	61926572	A	G	ANK3	c.2551+10T>C	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61926572A>G	(Likely) benign	1 lab	45df0475fc
16:23641632 PALB2 G>C	16	23641632	23641632	G	C	PALB2	c.1843C>G	NM_024675.3	NP_078951.2:p.(Pro615Ala)	NC_000016.9:g.23641632G>C	VUS	1 lab	45df336b31
2:179442518 TTN C>T	2	179442518	179442518	C	T	TTN	c.68635G>A	NM_001267550.1	NP_001254479.1:p.(Glu22879Lys)	NC_000002.11:g.179442518C>T	VUS	1 lab	45dfd0fd6e
14:95590729 DICER1 G>A	14	95590729	95590729	G	A	DICER1	c.1180C>T	NM_030621.4	NP_085124.2:p.(Gln394Ter)	NC_000014.8:g.95590729G>A	(Likely) pathogenic	1 lab	45e2f5f326
20:37638946 DHX35 C>T	20	37638946	37638946	C	T	DHX35	c.1246C>T	NM_021931.4	NP_068750.2:p.(Gln416Ter)	NC_000020.10:g.37638946C>T	VUS	1 lab	45e336d3b1
7:69064768 AUTS2 C>G	7	69064768	69064768	C	G	AUTS2	c.129C>G	NM_001127231.2	NP_001120703.1:p.(Thr43=)	NC_000007.13:g.69064768C>G	(Likely) benign	1 lab	45e6404509
X:153040544 PLXNB3 C>T	X	153040544	153040544	C	T	PLXNB3	c.4210C>T	NM_001163257.1	NP_001156729.1:p.(Leu1404Phe)	NC_000023.10:g.153040544C>T	(Likely) benign	1 lab	45e746f543
X:131762523 HS6ST2 C>T	X	131762523	131762523	C	T	HS6ST2	c.1666G>A	NM_001077188.1	NP_001070656.1:p.(Glu556Lys)	NC_000023.10:g.131762523C>T	VUS	1 lab	45e8306f6c
X:67426445 OPHN1 C>T	X	67426445	67426445	C	T	OPHN1	c.903G>A	NM_002547.2	NP_002538.1:p.(Thr301=)	NC_000023.10:g.67426445C>T	(Likely) benign	1 lab	45e853b4b1
17:4860157 ENO3 G>A	17	4860157	4860157	G	A	ENO3	c.1208G>A	NM_001976.4	NP_001967.3:p.(Arg403His)	NC_000017.10:g.4860157G>A	VUS	1 lab	45eb9f3966
8:38103323 DDHD2 T>A	8	38103323	38103323	T	A	DDHD2	c.912T>A	NM_015214.2	NP_056029.2:p.(Ile304=)	NC_000008.10:g.38103323T>A	(Likely) benign	1 lab	45ec234b0e
3:9934698 JAGN1 G>A	3	9934698	9934698	G	A	JAGN1	c.189G>A	NM_032492.4	NP_115881.3:p.(Leu63=)	NC_000003.11:g.9934698G>A	(Likely) benign	1 lab	45ec9fb6b1
5:176710798 NSD1 T>C	5	176710798	176710798	T	C	NSD1	c.6020T>C	NM_022455.4	NP_071900.2:p.(Ile2007Thr)	NC_000005.9:g.176710798T>C	(Likely) pathogenic	1 lab	45eeed4bd3
15:63937724 HERC1 C>T	15	63937724	63937724	C	T	HERC1	c.11036G>A	NM_003922.3	NP_003913.3:p.(Arg3679His)	NC_000015.9:g.63937724C>T	(Likely) benign	1 lab	45eef5822c
7:117282644 CFTR A>G	7	117282644	117282644	A	G	CFTR	c.3870A>G	NM_000492.3	NP_000483.3:p.(Pro1290=)	NC_000007.13:g.117282644A>G	(Likely) benign	1 lab	45f0c0e69f
2:211502467 CPS1 T>C	2	211502467	211502467	T	C	CPS1	c.2729T>C	NM_001875.4	NP_001866.2:p.(Ile910Thr)	NC_000002.11:g.211502467T>C	(Likely) benign	1 lab	45f1f88510
11:119213319 MFRP C>A	11	119213319	119213319	C	A	MFRP	c.1374G>T	NM_031433.3	NP_113621.1:p.(Leu458Phe)	NC_000011.9:g.119213319C>A	(Likely) benign	1 lab	45f248d440
2:218686624 TNS1 C>T	2	218686624	218686624	C	T	TNS1	c.3099G>A	NM_022648.5	NP_072174.3:p.(Ala1033=)	NC_000002.11:g.218686624C>T	(Likely) benign	1 lab	45f2ed9921
11:120983832 TECTA C>T	11	120983832	120983832	C	T	TECTA	c.538C>T	NM_005422.2	NP_005413.2:p.(Leu180Phe)	NC_000011.9:g.120983832C>T	VUS	1 lab	45f3a5cab8
9:74061594 TRPM3 G>A	9	74061594	74061594	G	A	TRPM3	c.158C>T	NM_001366141.2	NP_001353070.1:p.(Ser53Leu)	NC_000009.11:g.74061594G>A	(Likely) benign	1 lab	ee0169b88d
9:117186682 WHRN G>A	9	117186682	117186682	G	A	WHRN	c.1348C>T	NM_015404.3	NP_056219.3:p.(Arg450Cys)	NC_000009.11:g.117186682G>A	VUS	1 lab	45f5ba1ba7
12:120151355 CIT G>A	12	120151355	120151355	G	A	CIT	c.4405C>T	NM_001206999.1	NP_001193928.1:p.(Arg1469Cys)	NC_000012.11:g.120151355G>A	VUS	1 lab	45f68c581f
20:428626 TBC1D20 T>C	20	428626	428626	T	C	TBC1D20	c.163A>G	NM_144628.3	NP_653229.1:p.(Ile55Val)	NC_000020.10:g.428626T>C	(Likely) benign	1 lab	45f77748e4
1:109486541 CLCC1 T>G	1	109486541	109486541	T	G	CLCC1	c.478A>C	NM_001048210.2	NP_001041675.1:p.(Ile160Leu)	NC_000001.10:g.109486541T>G	(Likely) benign	1 lab	45f875e279
X:43542821 MAOA G>A	X	43542821	43542821	G	A	MAOA	c.134G>A	NM_000240.3	NP_000231.1:p.(Arg45Gln)	NC_000023.10:g.43542821G>A	VUS	1 lab	45fdd67b22
5:59189138 PDE4D G>C	5	59189138	59189138	G	C	PDE4D	c.312C>G	NM_001104631.2	NP_001098101.1:p.(Val104=)	NC_000005.9:g.59189138G>C	(Likely) benign	1 lab	45ff5694fe
13:96438227 DNAJC3 T>C	13	96438227	96438227	T	C	DNAJC3	c.1110T>C	NM_006260.4	NP_006251.1:p.(Asn370=)	NC_000013.10:g.96438227T>C	(Likely) benign	1 lab	45ff6e1874
11:64953450 CAPN1 G>A	11	64953450	64953450	G	A	CAPN1	c.519G>A	NM_001198868.1	NP_001185797.1:p.(Gly173=)	NC_000011.9:g.64953450G>A	(Likely) benign	1 lab	45ffc29710
2:8872102 KIDINS220 C>T	2	8872102	8872102	C	T	KIDINS220	c.4067G>A	NM_001348729.1	NP_001335658.1:p.(Arg1356His)	NC_000002.11:g.8872102C>T	VUS	1 lab	4600196786
19:17927781 INSL3 G>A	19	17927781	17927781	G	A	INSL3	c.373C>T	NM_001265587.1	NP_001252516.1:p.(Pro125Ser)	NC_000019.9:g.17927781G>A	VUS	1 lab	46027cfb27
18:56203120 ALPK2 C>T	18	56203120	56203120	C	T	ALPK2	c.4299G>A	NM_052947.4	NP_443179.3:p.(Gly1433=)	NC_000018.9:g.56203120C>T	(Likely) benign	1 lab	460557174e
12:40672051 LRRK2 T>G	12	40672051	40672051	T	G	LRRK2	c.2229T>G	NM_198578.3	NP_940980.3:p.(Ser743=)	NC_000012.11:g.40672051T>G	(Likely) benign	1 lab	46056cb7bd
16:30671163 FBRS AGAG>A	16	30671163	30671185	AGAG	A	FBRS	c.344_346del	NM_001105079.3	NP_001098549.2:p.(Glu115del)	NC_000016.9:g.30671183_30671185del	(Likely) benign	1 lab	46061256d7
10:112570179 RBM20 C>T	10	112570179	112570179	C	T	RBM20	c.1839C>T	NM_001134363.1	NP_001127835.1:p.(Ile613=)	NC_000010.10:g.112570179C>T	(Likely) benign	1 lab	460750cfb8
6:170156503 ERMARD C>T	6	170156503	170156503	C	T	ERMARD	c.385C>T	NM_018341.2	NP_060811.1:p.(Leu129=)	NC_000006.11:g.170156503C>T	(Likely) benign	1 lab	460800d34c
1:149760174 FCGR1A G>T	1	149760174	149760174	G	T	FCGR1A	c.559+1G>T	NM_000566.3	NP_000557.1:p.?	NC_000001.10:g.149760174G>T	(Likely) pathogenic	1 lab	46086f22ae
1:201182151 IGFN1 A>C	1	201182151	201182151	A	C	IGFN1	c.8130A>C	NM_001164586.1	NP_001158058.1:p.(Ser2710=)	NC_000001.10:g.201182151A>C	(Likely) benign	1 lab	460ca3430c
10:134686261 CFAP46 G>A	10	134686261	134686261	G	A	CFAP46	c.4430C>T	NM_001200049.3	NP_001186978.2:p.(Thr1477Met)	NC_000010.10:g.134686261G>A	VUS	1 lab	460d0368e0
2:179587587 TTN C>A	2	179587587	179587587	C	A	TTN	c.22039G>T	NM_001267550.1	NP_001254479.1:p.(Ala7347Ser)	NC_000002.11:g.179587587C>A	VUS	1 lab	460df3a10c
5:89971103 ADGRV1 C>T	5	89971103	89971103	C	T	ADGRV1	c.5154C>T	NM_032119.4	NP_115495.3:p.(Asp1718=)	NC_000005.9:g.89971103C>T	(Likely) benign	1 lab	460f736821
7:107314728 SLC26A4 G>A	7	107314728	107314728	G	A	SLC26A4	c.535G>A	NM_000441.1	NP_000432.1:p.(Ala179Thr)	NC_000007.13:g.107314728G>A	(Likely) benign	1 lab	460fc89604
X:48673785 HDAC6 C>T	X	48673785	48673785	C	T	HDAC6	c.1150-6C>T	NM_001321226.1	NP_001308155.1:p.?	NC_000023.10:g.48673785C>T	(Likely) benign	1 lab	4611387fbf
5:178413884 GRM6 G>A	5	178413884	178413884	G	A	GRM6	c.1455C>T	NM_000843.4	NP_000834.2:p.(Gly485=)	NC_000005.9:g.178413884G>A	VUS	1 lab	4614c94d99
7:94030884 COL1A2 T>A	7	94030884	94030884	T	A	COL1A2	c.231T>A	NM_000089.4	NP_000080.2:p.(Phe77Leu)	NC_000007.13:g.94030884T>A	VUS	1 lab	ee04b5e7f5
2:3691406 COLEC11 G>A	2	3691406	3691406	G	A	COLEC11	c.505G>A	NM_199235.2	NP_954705.1:p.(Gly169Ser)	NC_000002.11:g.3691406G>A	(Likely) benign	1 lab	46153fab6e
2:241689869 KIF1A C>T	2	241689869	241689869	C	T	KIF1A	c.2651G>A	NM_004321.8	NP_004312.2:p.(Arg884His)	NC_000002.11:g.241689869C>T	VUS	1 lab	ee05aa1a0c
8:124982337 FER1L6 C>T	8	124982337	124982337	C	T	FER1L6	c.447C>T	NM_001039112.2	NP_001034201.2:p.(Ser149=)	NC_000008.10:g.124982337C>T	(Likely) benign	1 lab	4615b57e1c
7:100414874 EPHB4 G>T	7	100414874	100414874	G	T	EPHB4	c.1528C>A	NM_004444.4	NP_004435.3:p.(Arg510Ser)	NC_000007.13:g.100414874G>T	VUS	1 lab	46179ccbee
9:139371885 SEC16A C>T	9	139371885	139371885	C	T	SEC16A	c.183G>A	NM_014866.1	NP_055681.1:p.(Ala61=)	NC_000009.11:g.139371885C>T	(Likely) benign	1 lab	461804a8fa
17:29559099 NF1 AC>A	17	29559099	29559101	AC	A	NF1	c.3208del	NM_001042492.3	NP_001035957.1:p.(Gln1070ArgfsTer7)	NC_000017.10:g.29559101del	(Likely) pathogenic	1 lab	461922193a
X:17743973 NHS C>T	X	17743973	17743973	C	T	NHS	c.1747C>T	NM_001291867.1	NP_001278796.1:p.(Arg583Cys)	NC_000023.10:g.17743973C>T	(Likely) benign	1 lab	46193e5cca
1:108700233 SLC25A24 T>C	1	108700233	108700233	T	C	SLC25A24	c.520A>G	NM_013386.5	NP_037518.3:p.(Ile174Val)	NC_000001.10:g.108700233T>C	VUS	1 lab	ee05e8e7a1
6:66063381 EYS A>G	6	66063381	66063381	A	G	EYS	c.1429T>C	NM_001292009.1	NP_001278938.1:p.(Phe477Leu)	NC_000006.11:g.66063381A>G	VUS	1 lab	461afa3444
6:129723539 LAMA2 C>T	6	129723539	129723539	C	T	LAMA2	c.5633C>T	NM_000426.3	NP_000417.2:p.(Ser1878Phe)	NC_000006.11:g.129723539C>T	VUS	1 lab	461d9d9095
20:42744550 JPH2 CCTCGGG>C	20	42744550	42744564	CCTCGGG	C	JPH2	c.1759_1764del	NM_020433.5	NP_065166.2:p.(Pro587_Glu588del)	NC_000020.10:g.42744559_42744564del	VUS	1 lab	ee0661777b
6:43484855 POLR1C C>T	6	43484855	43484855	C	T	POLR1C	c.8C>T	NM_203290.3	NP_976035.1:p.(Ala3Val)	NC_000006.11:g.43484855C>T	(Likely) benign	1 lab	461ecc2ef0
9:131345502 SPTAN1 T>C	9	131345502	131345502	T	C	SPTAN1	c.1953T>C	NM_001130438.2	NP_001123910.1:p.(Ala651=)	NC_000009.11:g.131345502T>C	(Likely) benign	1 lab	46205b9dfd
15:93563304 CHD2 T>TG	15	93563304	93563308	T	TG	CHD2	c.4973dup	NM_001271.3	NP_001262.3:p.(Ser1659LysfsTer8)	NC_000015.9:g.93563308dup	(Likely) pathogenic	1 lab	46207efa4f
1:22165423 HSPG2 G>C	1	22165423	22165423	G	C	HSPG2	c.10048C>G	NM_001291860.1	NP_001278789.1:p.(Leu3350Val)	NC_000001.10:g.22165423G>C	(Likely) benign	1 lab	4621cf6db2
X:153579979 FLNA G>A	X	153579979	153579979	G	A	FLNA	c.6993C>T	NM_001110556.2	NP_001104026.1:p.(Asp2331=)	NC_000023.10:g.153579979G>A	(Likely) benign	1 lab	462253c66e
X:53577890 HUWE1 G>A	X	53577890	53577890	G	A	HUWE1	c.9357C>T	NM_031407.6	NP_113584.3:p.(Ser3119=)	NC_000023.10:g.53577890G>A	(Likely) benign	1 lab	4625df3713
19:41916832 BCKDHA C>T	19	41916832	41916832	C	T	BCKDHA	c.293C>T	NM_000709.3	NP_000700.1:p.(Pro98Leu)	NC_000019.9:g.41916832C>T	VUS	1 lab	46275d1d3c
19:3980905 EEF2 CA>C	19	3980905	3980906	CA	C	EEF2	c.1083del	NM_001961.4	NP_001952.1:p.(Val362Ter)	NC_000019.9:g.3980906del	(Likely) pathogenic	1 lab	4629eecd27
1:183187629 LAMC2 T>C	1	183187629	183187629	T	C	LAMC2	c.503+6T>C	NM_005562.2	NP_005553.2:p.?	NC_000001.10:g.183187629T>C	(Likely) benign	1 lab	462c65ed93
11:2182004 INS-IGF2 A>G	11	2182004	2182004	A	G	INS-IGF2	c.187+11T>C	NM_001042376.3	NP_001035835.1:p.?	NC_000011.9:g.2182004A>G	(Likely) benign	1 lab	ee0889ec5e
4:88537161 DSPP A>G	4	88537161	88537161	A	G	DSPP	c.3347A>G	NM_014208.3	NP_055023.2:p.(Asp1116Gly)	NC_000004.11:g.88537161A>G	(Likely) benign	1 lab	462e95cd56
2:220422739 OBSL1 C>T	2	220422739	220422739	C	T	OBSL1	c.3596G>A	NM_015311.2	NP_056126.1:p.(Arg1199Gln)	NC_000002.11:g.220422739C>T	VUS	1 lab	462f4b48c1
X:153044113 PLXNB3 A>G	X	153044113	153044113	A	G	PLXNB3	c.5678A>G	NM_001163257.1	NP_001156729.1:p.(His1893Arg)	NC_000023.10:g.153044113A>G	VUS	1 lab	4631cc5e14
15:49044649 CEP152 G>C	15	49044649	49044649	G	C	CEP152	c.3363C>G	NM_001194998.1	NP_001181927.1:p.(Leu1121=)	NC_000015.9:g.49044649G>C	(Likely) benign	1 lab	4631f0f3e4
8:48874104 MCM4 C>T	8	48874104	48874104	C	T	MCM4	c.99C>T	NM_005914.4	NP_005905.2:p.(Pro33=)	NC_000008.10:g.48874104C>T	(Likely) benign	1 lab	4632464983
1:228461527 OBSCN G>C	1	228461527	228461527	G	C	OBSCN	c.6319G>C	NM_001271223.2	NP_001258152.2:p.(Glu2107Gln)	NC_000001.10:g.228461527G>C	(Likely) benign	1 lab	463569d144
8:68074131 CSPP1 T>C	8	68074131	68074131	T	C	CSPP1	c.2609T>C	NM_024790.6	NP_079066.5:p.(Ile870Thr)	NC_000008.10:g.68074131T>C	(Likely) benign	1 lab	4635c1b821
X:115303764 AGTR2 G>T	X	115303764	115303764	G	T	AGTR2	c.231G>T	NM_000686.4	NP_000677.2:p.(Lys77Asn)	NC_000023.10:g.115303764G>T	(Likely) benign	1 lab	46372afb21
14:102505492 DYNC1H1 G>A	14	102505492	102505492	G	A	DYNC1H1	c.11361G>A	NM_001376.4	NP_001367.2:p.(Thr3787=)	NC_000014.8:g.102505492G>A	(Likely) benign	1 lab	4638d824f2
17:29528179 NF1 T>G	17	29528179	29528179	T	G	NF1	c.1185+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528179T>G	(Likely) pathogenic	1 lab	4639c15236
17:29576091 NF1 C>G	17	29576091	29576091	C	G	NF1	c.4064C>G	NM_000267.3	NP_000258.1:p.(Ser1355Ter)	NC_000017.10:g.29576091C>G	(Likely) pathogenic	1 lab	ee0d9e3259
11:35006284 PDHX TAAGA>T	11	35006284	35006292	TAAGA	T	PDHX	c.1182+14_1182+17del	NM_003477.3	NP_003468.2:p.?	NC_000011.9:g.35006289_35006292del	VUS	1 lab	463b4edc17
17:1564328 PRPF8 G>A	17	1564328	1564328	G	A	PRPF8	c.4467C>T	NM_006445.3	NP_006436.3:p.(Leu1489=)	NC_000017.10:g.1564328G>A	(Likely) benign	1 lab	463c5918d8
X:10417412 MID1 G>A	X	10417412	10417412	G	A	MID1	c.2000C>T	NM_000381.3	NP_000372.1:p.(Pro667Leu)	NC_000023.10:g.10417412G>A	(Likely) benign	1 lab	463ce4c8dd
6:152784028 SYNE1 G>A	6	152784028	152784028	G	A	SYNE1	c.2098-3C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152784028G>A	(Likely) benign	1 lab	463d2810df
X:151935999 MAGEA3 G>A	X	151935999	151935999	G	A	MAGEA3	c.168C>T	NM_005362.3	NP_005353.1:p.(Ala56=)	NC_000023.10:g.151935999G>A	(Likely) benign	1 lab	463d3747e2
X:100911707 ARMCX2 G>A	X	100911707	100911707	G	A	ARMCX2	c.868C>T	NM_177949.3	NP_808818.1:p.(Arg290Trp)	NC_000023.10:g.100911707G>A	(Likely) benign	1 lab	463e49cc14
8:140630927 KCNK9 C>T	8	140630927	140630927	C	T	KCNK9	c.699G>A	NM_001282534.1	NP_001269463.1:p.(Thr233=)	NC_000008.10:g.140630927C>T	(Likely) benign	1 lab	463eeb6ce3
10:82040049 MAT1A G>A	10	82040049	82040049	G	A	MAT1A	c.429C>T	NM_000429.2	NP_000420.1:p.(Thr143=)	NC_000010.10:g.82040049G>A	(Likely) benign	1 lab	463fda427e
1:97981407 DPYD C>T	1	97981407	97981407	C	T	DPYD	c.1615G>A	NM_000110.3	NP_000101.2:p.(Gly539Arg)	NC_000001.10:g.97981407C>T	VUS	1 lab	46402c6282
9:119461882 TRIM32 G>A	9	119461882	119461882	G	A	TRIM32	c.1861G>A	NM_012210.3	NP_036342.2:p.(Gly621Ser)	NC_000009.11:g.119461882G>A	VUS	1 lab	4640a3bb4c
2:109398656 RANBP2 C>T	2	109398656	109398656	C	T	RANBP2	c.8833C>T	NM_006267.5	NP_006258.3:p.(Arg2945Trp)	NC_000002.11:g.109398656C>T	VUS	1 lab	ee0ee097a0
16:49671335 ZNF423 G>A	16	49671335	49671335	G	A	ZNF423	c.1548C>T	NM_001271620.2	NP_001258549.1:p.(Ser516=)	NC_000016.9:g.49671335G>A	(Likely) benign	1 lab	4641cb8f43
22:40814763 MRTFA C>T	22	40814763	40814763	C	T	MRTFA				NC_000022.10:g.40814763C>T	VUS	1 lab	4aa1a188c5
X:20030506 MAP7D2 A>G	X	20030506	20030506	A	G	MAP7D2	c.2033T>C	NM_001168465.2	NP_001161937.1:p.(Leu678Pro)	NC_000023.10:g.20030506A>G	VUS	1 lab	4643a469ff
9:34647199 GALT C>T	9	34647199	34647199	C	T	GALT	c.196C>T	NM_000155.3	NP_000146.2:p.(Pro66Ser)	NC_000009.11:g.34647199C>T	VUS	1 lab	4645e01ad3
9:136302010 ADAMTS13 C>T	9	136302010	136302010	C	T	ADAMTS13	c.1370C>T	NM_139025.4	NP_620594.1:p.(Pro457Leu)	NC_000009.11:g.136302010C>T	VUS	1 lab	46462d5057
14:73664718 PSEN1 T>C	14	73664718	73664718	T	C	PSEN1	c.770-21T>C	NM_000021.3	NP_000012.1:p.?	NC_000014.8:g.73664718T>C	(Likely) benign	1 lab	46c9aaa84c
14:24620816 RNF31 C>A	14	24620816	24620816	C	A	RNF31	c.1860C>A	NM_017999.5	NP_060469.4:p.(Phe620Leu)	NC_000014.8:g.24620816C>A	VUS	1 lab	4646a135d5
8:1719605 CLN8 C>T	8	1719605	1719605	C	T	CLN8	c.385C>T	NM_018941.3	NP_061764.2:p.(Arg129Trp)	NC_000008.10:g.1719605C>T	VUS	1 lab	4646b0e3b7
1:152280514 FLG C>G	1	152280514	152280514	C	G	FLG	c.6848G>C	NM_002016.1	NP_002007.1:p.(Arg2283Thr)	NC_000001.10:g.152280514C>G	(Likely) benign	1 lab	4648662ba1
12:46285676 ARID2 G>A	12	46285676	46285676	G	A	ARID2	c.5036G>A	NM_152641.3	NP_689854.2:p.(Arg1679Gln)	NC_000012.11:g.46285676G>A	VUS	1 lab	464b0754c2
18:6943250 LAMA1 C>T	18	6943250	6943250	C	T	LAMA1	c.8996G>A	NM_005559.3	NP_005550.2:p.(Gly2999Asp)	NC_000018.9:g.6943250C>T	(Likely) benign	1 lab	464bb23219
2:179398911 TTN T>C	2	179398911	179398911	T	C	TTN	c.102431A>G	NM_001267550.1	NP_001254479.1:p.(His34144Arg)	NC_000002.11:g.179398911T>C	VUS	1 lab	464cb6053c
21:34922804 SON C>T	21	34922804	34922804	C	T	SON	c.1267C>T	NM_138927.2	NP_620305.2:p.(Pro423Ser)	NC_000021.8:g.34922804C>T	(Likely) benign	1 lab	464d4ef7af
6:42931423 GNMT C>T	6	42931423	42931423	C	T	GNMT	c.867C>T	NM_018960.5	NP_061833.1:p.(His289=)	NC_000006.11:g.42931423C>T	(Likely) benign	1 lab	464d88e960
6:24533811 ALDH5A1 C>T	6	24533811	24533811	C	T	ALDH5A1	c.1518C>T	NM_170740.1	NP_733936.1:p.(Asn506=)	NC_000006.11:g.24533811C>T	(Likely) benign	1 lab	464e9c1a9c
7:4828492 AP5Z1 G>C	7	4828492	4828492	G	C	AP5Z1	c.1617G>C	NM_014855.3	NP_055670.1:p.(Leu539=)	NC_000007.13:g.4828492G>C	(Likely) benign	1 lab	464eb76c7c
11:6413235 SMPD1 G>A	11	6413235	6413235	G	A	SMPD1	c.940G>A	NM_001318087.1	NP_001305016.1:p.(Val314Met)	NC_000011.9:g.6413235G>A	(Likely) pathogenic	1 lab	464ee56d10
18:12308318 TUBB6 G>T	18	12308318	12308318	G	T	TUBB6	c.27G>T	NM_032525.2	NP_115914.1:p.(Ala9=)	NC_000018.9:g.12308318G>T	(Likely) benign	1 lab	46507b925f
11:66469100 SPTBN2 G>A	11	66469100	66469100	G	A	SPTBN2	c.2771C>T	NM_006946.3	NP_008877.1:p.(Pro924Leu)	NC_000011.9:g.66469100G>A	VUS	1 lab	4650c00363
8:11421466 BLK G>T	8	11421466	11421466	G	T	BLK	c.1367G>T	NM_001715.2	NP_001706.2:p.(Arg456Leu)	NC_000008.10:g.11421466G>T	(Likely) benign	1 lab	4650f7b479
6:7558383 DSP G>A	6	7558383	7558383	G	A	DSP	c.308G>A	NM_004415.2	NP_004406.2:p.(Arg103Gln)	NC_000006.11:g.7558383G>A	(Likely) benign	1 lab	465174ac2d
15:31359269 TRPM1 C>T	15	31359269	31359269	C	T	TRPM1	c.666G>A	NM_001252020.1	NP_001238949.1:p.(Lys222=)	NC_000015.9:g.31359269C>T	(Likely) benign	1 lab	4653736d38
5:145969624 PPP2R2B G>A	5	145969624	145969624	G	A	PPP2R2B	c.1185C>T	NM_001271948.1	NP_001258877.1:p.(Val395=)	NC_000005.9:g.145969624G>A	(Likely) benign	1 lab	465776f901
12:49425033 KMT2D A>C	12	49425033	49425033	A	C	KMT2D	c.13455T>G	NM_003482.3	NP_003473.3:p.(Ala4485=)	NC_000012.11:g.49425033A>C	(Likely) benign	1 lab	4658f3bde3
X:47486559 CFP G>A	X	47486559	47486559	G	A	CFP	c.747C>T	NM_002621.2	NP_002612.1:p.(Thr249=)	NC_000023.10:g.47486559G>A	(Likely) benign	1 lab	4659c52eb0
6:33411445 SYNGAP1 T>C	6	33411445	33411445	T	C	SYNGAP1	c.3116T>C	NM_006772.2	NP_006763.2:p.(Ile1039Thr)	NC_000006.11:g.33411445T>C	VUS	1 lab	4659d57396
2:179449870 TTN C>T	2	179449870	179449870	C	T	TTN	c.64601G>A	NM_001267550.1	NP_001254479.1:p.(Ser21534Asn)	NC_000002.11:g.179449870C>T	VUS	1 lab	465acdf9fd
X:18668644 CDKL5 G>A	X	18668644	18668644	G	A	CDKL5	c.2912G>A	NM_003159.2	NP_003150.1:p.(Gly971Asp)	NC_000023.10:g.18668644G>A	VUS	1 lab	465b6d4182
19:42388536 ARHGEF1 T>A	19	42388536	42388536	T	A	ARHGEF1	c.2T>A	NM_199002.1	NP_945353.1:p.(Met1?)	NC_000019.9:g.42388536T>A	(Likely) benign	1 lab	465c6845c9
19:12777497 MAN2B1 C>G	19	12777497	12777497	C	G	MAN2B1	c.19G>C	NM_000528.3	NP_000519.2:p.(Ala7Pro)	NC_000019.9:g.12777497C>G	(Likely) benign	1 lab	465d062354
10:49643030 MAPK8 C>A	10	49643030	49643030	C	A	MAPK8	c.1242C>A	NM_001323322.1	NP_001310251.1:p.(Ser414Arg)	NC_000010.10:g.49643030C>A	VUS	1 lab	465e58a570
13:32953857 BRCA2 A>T	13	32953857	32953857	A	T	BRCA2	c.8954-30A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953857A>T	(Likely) benign	1 lab	465e773085
9:133932370 LAMC3 C>T	9	133932370	133932370	C	T	LAMC3	c.1994C>T	NM_006059.4	NP_006050.3:p.(Pro665Leu)	NC_000009.11:g.133932370C>T	(Likely) benign	1 lab	ee16677e66
2:15676582 NBAS C>G	2	15676582	15676582	C	G	NBAS	c.607G>C	NM_015909.4	NP_056993.2:p.(Val203Leu)	NC_000002.11:g.15676582C>G	VUS	1 lab	ee169bd669
6:91254280 MAP3K7 C>T	6	91254280	91254280	C	T	MAP3K7	c.1282G>A	NM_145331.2	NP_663304.1:p.(Val428Ile)	NC_000006.11:g.91254280C>T	(Likely) benign	1 lab	4660fe317a
6:152621826 SYNE1 C>T	6	152621826	152621826	C	T	SYNE1	c.17632G>A	NM_182961.3	NP_892006.3:p.(Ala5878Thr)	NC_000006.11:g.152621826C>T	VUS	1 lab	46616969c4
2:220081142 ABCB6 G>C	2	220081142	220081142	G	C	ABCB6	c.914C>G	NM_005689.2	NP_005680.1:p.(Thr305Ser)	NC_000002.11:g.220081142G>C	VUS	1 lab	4661de24fe
4:71507727 ENAM T>G	4	71507727	71507727	T	G	ENAM	c.589-5T>G	NM_031889.3	NP_114095.2:p.?	NC_000004.11:g.71507727T>G	(Likely) benign	1 lab	4662fb2a40
16:15812192 MYH11 C>T	16	15812192	15812192	C	T	MYH11	c.5296G>A	NM_001040113.1	NP_001035202.1:p.(Val1766Ile)	NC_000016.9:g.15812192C>T	(Likely) benign	1 lab	466351b764
X:154189379 F8 C>T	X	154189379	154189379	C	T	F8	c.1508G>A	NM_000132.3	NP_000123.1:p.(Arg503His)	NC_000023.10:g.154189379C>T	(Likely) benign	1 lab	4663a6d0c6
5:37201834 CPLANE1 A>C	5	37201834	37201834	A	C	CPLANE1	c.3366T>G	NM_023073.3	NP_075561.3:p.(Asp1122Glu)	NC_000005.9:g.37201834A>C	VUS	1 lab	4663fc0609
5:112174670 APC C>A	5	112174670	112174670	C	A	APC	c.3379C>A	NM_001354895.1	NP_001341824.1:p.(Gln1127Lys)	NC_000005.9:g.112174670C>A	VUS	1 lab	4664966a48
6:43752334 VEGFA C>T	6	43752334	43752334	C	T	VEGFA	c.611C>T	NM_001317010.1	NP_001303939.1:p.(Ser204=)	NC_000006.11:g.43752334C>T	VUS	1 lab	4665ffc93c
16:57689385 ADGRG1 C>G	16	57689385	57689385	C	G	ADGRG1	c.843C>G	NM_005682.6	NP_005673.3:p.(Ser281Arg)	NC_000016.9:g.57689385C>G	(Likely) benign	1 lab	4668240426
7:101962081 MISSING A>G	7	101962081	101962081	A	G	MISSING				NC_000007.13:g.101962081A>G	VUS	1 lab	466914707a
12:80878310 MISSING C>T	12	80878310	80878310	C	T	MISSING				NC_000012.11:g.80878310C>T	(Likely) benign	1 lab	8b580d5d33
1:237753223 RYR2 A>C	1	237753223	237753223	A	C	RYR2	c.3729A>C	NM_001035.2	NP_001026.2:p.(Thr1243=)	NC_000001.10:g.237753223A>C	(Likely) benign	1 lab	466a3e1f20
9:5080523 JAK2 T>C	9	5080523	5080523	T	C	JAK2	c.2284-10T>C	NM_001322194.1	NP_001309123.1:p.?	NC_000009.11:g.5080523T>C	(Likely) benign	1 lab	466b3975f4
10:124740166 PSTK C>T	10	124740166	124740166	C	T	PSTK	c.171C>T	NM_153336.2	NP_699167.2:p.(Asp57=)	NC_000010.10:g.124740166C>T	(Likely) benign	1 lab	466b46ff19
21:46876123 COL18A1 G>A	21	46876123	46876123	G	A	COL18A1	c.679G>A	NM_130444.3	NP_569711.2:p.(Ala227Thr)	NC_000021.8:g.46876123G>A	(Likely) benign	1 lab	466c82d292
5:160061403 ATP10B G>A	5	160061403	160061403	G	A	ATP10B	c.1339C>T	NM_025153.3	NP_079429.2:p.(Arg447Cys)	NC_000005.9:g.160061403G>A	VUS	1 lab	466d064055
X:140985331 MAGEC3 A>T	X	140985331	140985331	A	T	MAGEC3	c.893A>T	NM_177456.2	NP_803251.1:p.(His298Leu)	NC_000023.10:g.140985331A>T	(Likely) benign	1 lab	466db61b6c
11:118133311 MPZL2 T>A	11	118133311	118133311	T	A	MPZL2	c.278A>T	NM_005797.4	NP_005788.1:p.(Asp93Val)	NC_000011.9:g.118133311T>A	VUS	1 lab	466e792226
2:74601462 DCTN1 C>T	2	74601462	74601462	C	T	DCTN1	c.420G>A	NM_004082.4	NP_004073.2:p.(Pro140=)	NC_000002.11:g.74601462C>T	(Likely) benign	1 lab	466e7fc972
2:234669773 UGT1A1 C>A	2	234669773	234669773	C	A	UGT1A1	c.840C>A	NM_000463.2	NP_000454.1:p.(Cys280Ter)	NC_000002.11:g.234669773C>A	(Likely) pathogenic	1 lab	466ed3930d
20:10026226 ANKEF1 T>C	20	10026226	10026226	T	C	ANKEF1	c.701T>C	NM_022096.6	NP_071379.3:p.(Leu234Ser)	NC_000020.10:g.10026226T>C	VUS	1 lab	466f00d396
5:90079045 ADGRV1 G>A	5	90079045	90079045	G	A	ADGRV1	c.13336G>A	NM_032119.4	NP_115495.3:p.(Gly4446Arg)	NC_000005.9:g.90079045G>A	(Likely) benign	1 lab	466f39d4c7
1:60499312 C1orf87 T>G	1	60499312	60499312	T	G	C1orf87	c.865A>C	NM_152377.3	NP_689590.1:p.(Thr289Pro)	NC_000001.10:g.60499312T>G	(Likely) benign	1 lab	466fccd6d6
21:47848446 PCNT G>A	21	47848446	47848446	G	A	PCNT	c.7632G>A	NM_006031.5	NP_006022.3:p.(Thr2544=)	NC_000021.8:g.47848446G>A	(Likely) benign	1 lab	467129ff4a
12:99071283 APAF1 A>C	12	99071283	99071283	A	C	APAF1	c.1874A>C	NM_181861.1	NP_863651.1:p.(Glu625Ala)	NC_000012.11:g.99071283A>C	(Likely) benign	1 lab	46714f980d
6:42930887 GNMT C>A	6	42930887	42930887	C	A	GNMT	c.529C>A	NM_018960.5	NP_061833.1:p.(His177Asn)	NC_000006.11:g.42930887C>A	VUS	1 lab	4672c656d3
X:147919181 AFF2 A>G	X	147919181	147919181	A	G	AFF2	c.1097A>G	NM_002025.3	NP_002016.2:p.(His366Arg)	NC_000023.10:g.147919181A>G	(Likely) benign	1 lab	4674481b63
13:39338541 FREM2 T>A	13	39338541	39338541	T	A	FREM2	c.5364T>A	NM_207361.5	NP_997244.4:p.(Asp1788Glu)	NC_000013.10:g.39338541T>A	(Likely) benign	1 lab	4674bd3903
2:120848026 EPB41L5 G>A	2	120848026	120848026	G	A	EPB41L5	c.977G>A	NM_001330310.1	NP_001317239.1:p.(Arg326Gln)	NC_000002.11:g.120848026G>A	VUS	1 lab	46766a2b53
5:61669558 KIF2A G>A	5	61669558	61669558	G	A	KIF2A	c.1631G>A	NM_001243952.1	NP_001230881.1:p.(Arg544His)	NC_000005.9:g.61669558G>A	(Likely) benign	1 lab	4676b3727f
X:100650727 RPL36A C>A	X	100650727	100650727	C	A	RPL36A	c.420C>A	NM_021029.5	NP_066357.2:p.(Ile140=)	NC_000023.10:g.100650727C>A	(Likely) benign	1 lab	4677058818
7:151860149 KMT2C T>C	7	151860149	151860149	T	C	KMT2C	c.10513A>G	NM_170606.2	NP_733751.2:p.(Asn3505Asp)	NC_000007.13:g.151860149T>C	(Likely) benign	1 lab	4677be2845
12:113354369 OAS1 T>C	12	113354369	113354369	T	C	OAS1	c.710T>C	NM_016816.3	NP_058132.2:p.(Val237Ala)	NC_000012.11:g.113354369T>C	VUS	1 lab	46785c62ce
1:227171528 COQ8A G>A	1	227171528	227171528	G	A	COQ8A	c.1229G>A	NM_020247.4	NP_064632.2:p.(Arg410Gln)	NC_000001.10:g.227171528G>A	VUS	1 lab	4678a25db0
X:18220014 BEND2 T>C	X	18220014	18220014	T	C	BEND2	c.954A>G	NM_153346.4	NP_699177.2:p.(Thr318=)	NC_000023.10:g.18220014T>C	VUS	1 lab	4678de6af0
2:238451272 MLPH G>A	2	238451272	238451272	G	A	MLPH	c.1509G>A	NM_024101.5	NP_077006.1:p.(Ser503=)	NC_000002.11:g.238451272G>A	(Likely) benign	1 lab	46798ecd16
X:49099347 CCDC22 C>T	X	49099347	49099347	C	T	CCDC22	c.362-5C>T	NM_014008.4	NP_054727.1:p.?	NC_000023.10:g.49099347C>T	(Likely) benign	1 lab	467bac3ce6
17:40370281 STAT5B G>A	17	40370281	40370281	G	A	STAT5B	c.1057C>T	NM_012448.4	NP_036580.2:p.(Arg353Cys)	NC_000017.10:g.40370281G>A	VUS	1 lab	ee1bb6d86d
7:21630907 DNAH11 C>T	7	21630907	21630907	C	T	DNAH11				NC_000007.13:g.21630907C>T	(Likely) benign	1 lab	467e5b5528
3:51417612 DOCK3 G>C	3	51417612	51417612	G	C	DOCK3	c.5557G>C	NM_004947.4	NP_004938.1:p.(Ala1853Pro)	NC_000003.11:g.51417612G>C	VUS	1 lab	467eddba28
16:88502573 ZNF469 G>A	16	88502573	88502573	G	A	ZNF469				NC_000016.9:g.88502573G>A	(Likely) benign	1 lab	467f85df27
2:179560864 TTN A>C	2	179560864	179560864	A	C	TTN	c.30935T>G	NM_001267550.2	NP_001254479.2:p.(Val10312Gly)	NC_000002.11:g.179560864A>C	VUS	1 lab	ee20064c5c
5:90446024 ADGRV1 G>T	5	90446024	90446024	G	T	ADGRV1	c.18610G>T	NM_032119.4	NP_115495.3:p.(Gly6204Cys)	NC_000005.9:g.90446024G>T	(Likely) benign	1 lab	46834718ec
1:160252819 PEX19 G>A	1	160252819	160252819	G	A	PEX19	c.261C>T	NM_002857.3	NP_002848.1:p.(Phe87=)	NC_000001.10:g.160252819G>A	(Likely) benign	1 lab	46844ce076
6:7581603 DSP T>C	6	7581603	7581603	T	C	DSP	c.5180T>C	NM_004415.2	NP_004406.2:p.(Leu1727Pro)	NC_000006.11:g.7581603T>C	VUS	1 lab	46867acaff
22:50682800 TUBGCP6 C>T	22	50682800	50682800	C	T	TUBGCP6	c.89G>A	NM_020461.3	NP_065194.2:p.(Arg30Gln)	NC_000022.10:g.50682800C>T	(Likely) benign	1 lab	4687827a7c
8:87738876 CNGB3 G>A	8	87738876	87738876	G	A	CNGB3	c.221C>T	NM_019098.4	NP_061971.3:p.(Ser74Phe)	NC_000008.10:g.87738876G>A	(Likely) benign	1 lab	468949250c
4:6293093 WFS1 C>T	4	6293093	6293093	C	T	WFS1	c.630C>T	NM_006005.3	NP_005996.2:p.(His210=)	NC_000004.11:g.6293093C>T	(Likely) benign	1 lab	468bb2d051
5:78415097 BHMT G>A	5	78415097	78415097	G	A	BHMT	c.182G>A	NM_001713.2	NP_001704.2:p.(Arg61Gln)	NC_000005.9:g.78415097G>A	VUS	1 lab	468cd1f4cd
15:28375699 HERC2 G>A	15	28375699	28375699	G	A	HERC2	c.12612C>T	NM_004667.5	NP_004658.3:p.(Cys4204=)	NC_000015.9:g.28375699G>A	(Likely) benign	1 lab	468df725cc
12:49443602 KMT2D G>A	12	49443602	49443602	G	A	KMT2D	c.3769C>T	NM_003482.3	NP_003473.3:p.(Leu1257=)	NC_000012.11:g.49443602G>A	(Likely) benign	1 lab	468ea2bb59
X:50053052 CCNB3 C>A	X	50053052	50053052	C	A	CCNB3	c.1883C>A	NM_033031.2	NP_149020.2:p.(Ser628Tyr)	NC_000023.10:g.50053052C>A	(Likely) benign	1 lab	468edf3f91
16:57789124 KATNB1 G>A	16	57789124	57789124	G	A	KATNB1	c.1390G>A	NM_005886.2	NP_005877.2:p.(Gly464Arg)	NC_000016.9:g.57789124G>A	VUS	1 lab	468ee820ff
17:44109505 KANSL1 CT>C	17	44109505	44109506	CT	C	KANSL1	c.2997del	NM_015443.4	NP_056258.1:p.(Ala1000HisfsTer14)	NC_000017.10:g.44109506del	(Likely) pathogenic	1 lab	468f2ea30c
1:43232495 P3H1 C>T	1	43232495	43232495	C	T	P3H1	c.148G>A	NM_001243246.1	NP_001230175.1:p.(Asp50Asn)	NC_000001.10:g.43232495C>T	VUS	1 lab	46919e8729
2:20845237 HS1BP3 C>T	2	20845237	20845237	C	T	HS1BP3	c.61G>A	NM_022460.4	NP_071905.3:p.(Asp21Asn)	NC_000002.11:g.20845237C>T	VUS	1 lab	4693cfb4e8
7:75611623 POR C>A	7	75611623	75611623	C	A	POR	c.813C>A	NM_000941.2	NP_000932.3:p.(Ser271Arg)	NC_000007.13:g.75611623C>A	VUS	1 lab	46942b6c04
X:44094618 EFHC2 C>T	X	44094618	44094618	C	T	EFHC2	c.1356G>A	NM_025184.3	NP_079460.2:p.(Met452Ile)	NC_000023.10:g.44094618C>T	(Likely) benign	1 lab	469695012e
X:153039395 PLXNB3 C>A	X	153039395	153039395	C	A	PLXNB3	c.3430C>A	NM_001163257.1	NP_001156729.1:p.(Arg1144=)	NC_000023.10:g.153039395C>A	(Likely) benign	1 lab	46977d597b
14:21795949 RPGRIP1 G>T	14	21795949	21795949	G	T	RPGRIP1	c.2878G>T	NM_020366.3	NP_065099.3:p.(Ala960Ser)	NC_000014.8:g.21795949G>T	(Likely) benign	1 lab	4697afc88b
1:237619941 RYR2 C>A	1	237619941	237619941	C	A	RYR2	c.1518C>A	NM_001035.2	NP_001026.2:p.(His506Gln)	NC_000001.10:g.237619941C>A	(Likely) benign	1 lab	4697c99f46
19:3977501 EEF2 T>C	19	3977501	3977501	T	C	EEF2	c.2175A>G	NM_001961.3	NP_001952.1:p.(Ala725=)	NC_000019.9:g.3977501T>C	(Likely) benign	1 lab	469869b06d
3:27763628 EOMES T>C	3	27763628	27763628	T	C	EOMES	c.158A>G	NM_001278182.1	NP_001265111.1:p.(Lys53Arg)	NC_000003.11:g.27763628T>C	(Likely) benign	1 lab	469a72e222
16:85690913 GSE1 C>T	16	85690913	85690913	C	T	GSE1	c.1031C>T	NM_001134473.3	NP_001127945.1:p.(Pro344Leu)	NC_000016.9:g.85690913C>T	VUS	1 lab	ee26c1ed95
X:71354409 NHSL2 G>A	X	71354409	71354409	G	A	NHSL2	c.615G>A	NM_001013627.2	NP_001013649.2:p.(Arg205=)	NC_000023.10:g.71354409G>A	(Likely) benign	1 lab	469c36c964
19:9067359 MUC16 G>A	19	9067359	9067359	G	A	MUC16	c.20087C>T	NM_024690.2	NP_078966.2:p.(Ser6696Phe)	NC_000019.9:g.9067359G>A	(Likely) benign	1 lab	46a0e0a88d
10:54041941 PRKG1 G>A	10	54041941	54041941	G	A	PRKG1	c.1574G>A	NM_006258.4	NP_006249.1:p.(Gly525Glu)	NC_000010.10:g.54041941G>A	VUS	1 lab	46a1b7b764
16:57787175 KATNB1 C>G	16	57787175	57787175	C	G	KATNB1	c.1042C>G	NM_005886.2	NP_005877.2:p.(Gln348Glu)	NC_000016.9:g.57787175C>G	(Likely) benign	1 lab	46a7f96e34
15:85326798 ZNF592 A>G	15	85326798	85326798	A	G	ZNF592	c.892A>G	NM_014630.2	NP_055445.2:p.(Ser298Gly)	NC_000015.9:g.85326798A>G	(Likely) benign	1 lab	46aabe2ee7
5:176671188 NSD1 A>G	5	176671188	176671188	A	G	NSD1	c.4303-8A>G	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176671188A>G	(Likely) benign	1 lab	46aad02b65
22:36682799 MYH9 T>C	22	36682799	36682799	T	C	MYH9	c.5026A>G	NM_002473.5	NP_002464.1:p.(Lys1676Glu)	NC_000022.10:g.36682799T>C	VUS	1 lab	46ade8cd2f
9:5022124 JAK2 C>A	9	5022124	5022124	C	A	JAK2	c.137C>A	NM_001322194.1	NP_001309123.1:p.(Ser46Tyr)	NC_000009.11:g.5022124C>A	(Likely) benign	1 lab	46ae961f2e
8:126094647 WASHC5 T>C	8	126094647	126094647	T	C	WASHC5	c.395A>G	NM_014846.3	NP_055661.3:p.(Asn132Ser)	NC_000008.10:g.126094647T>C	VUS	1 lab	46af0caf1a
8:12289616 FAM86B2 C>A	8	12289616	12289616	C	A	FAM86B2	c.215G>T	NM_001137610.2	NP_001131082.1:p.(Cys72Phe)	NC_000008.10:g.12289616C>A	(Likely) benign	1 lab	46b0c081ca
1:7309611 CAMTA1 G>A	1	7309611	7309611	G	A	CAMTA1	c.363G>A	NM_015215.3	NP_056030.1:p.(Gly121=)	NC_000001.10:g.7309611G>A	(Likely) benign	1 lab	46b13490ef
2:179395521 TTN G>A	2	179395521	179395521	G	A	TTN	c.105821C>T	NM_001267550.2	NP_001254479.2:p.(Thr35274Ile)	NC_000002.11:g.179395521G>A	(Likely) benign	1 lab	ee2a4c2370
15:35082591 ACTC1 G>A	15	35082591	35082591	G	A	ACTC1	c.*22C>T	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35082591G>A	(Likely) benign	1 lab	4845011978
17:58121417 HEATR6 A>C	17	58121417	58121417	A	C	HEATR6	c.3053T>G	NM_022070.4	NP_071353.4:p.(Ile1018Ser)	NC_000017.10:g.58121417A>C	VUS	1 lab	46b23f9440
20:62198985 HELZ2 G>A	20	62198985	62198985	G	A	HELZ2	c.19C>T	NM_033405.3	NP_208384.3:p.(Arg7Cys)	NC_000020.10:g.62198985G>A	(Likely) benign	1 lab	46b6f22cc5
6:117130710 GPRC6A G>C	6	117130710	117130710	G	C	GPRC6A	c.265C>G	NM_148963.3	NP_683766.2:p.(Leu89Val)	NC_000006.11:g.117130710G>C	VUS	1 lab	46b75b25e6
12:132626895 DDX51 C>T	12	132626895	132626895	C	T	DDX51	c.743G>A	NM_175066.4	NP_778236.2:p.(Arg248Gln)	NC_000012.11:g.132626895C>T	(Likely) benign	1 lab	46bc8d079d
19:52133142 SIGLEC5 C>T	19	52133142	52133142	C	T	SIGLEC5	c.365G>A	NM_003830.3	NP_003821.1:p.(Arg122Lys)	NC_000019.9:g.52133142C>T	(Likely) benign	1 lab	46bd67ada9
1:156130691 SEMA4A C>T	1	156130691	156130691	C	T	SEMA4A	c.686-5C>T	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156130691C>T	(Likely) benign	1 lab	46be31526b
22:24176465 SMARCB1 C>T	22	24176465	24176465	C	T	SMARCB1	c.*98C>T	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24176465C>T	(Likely) benign	1 lab	46bf546763
1:171076966 FMO3 G>A	1	171076966	171076966	G	A	FMO3	c.472G>A	NM_001002294.3	NP_001002294.1:p.(Glu158Lys)	NC_000001.10:g.171076966G>A	(Likely) benign	1 lab	ee2aee5ad0
12:49426905 KMT2D T>C	12	49426905	49426905	T	C	KMT2D	c.11583A>G	NM_003482.3	NP_003473.3:p.(Gln3861=)	NC_000012.11:g.49426905T>C	(Likely) benign	1 lab	46c39eadb4
16:81194506 MISSING A>G	16	81194506	81194506	A	G	MISSING				NC_000016.9:g.81194506A>G	VUS	1 lab	46c3d1e3b3
X:140984466 MAGEC3 C>T	X	140984466	140984466	C	T	MAGEC3	c.28C>T	NM_177456.2	NP_803251.1:p.(Leu10Phe)	NC_000023.10:g.140984466C>T	(Likely) benign	1 lab	46c654d71b
21:46945774 SLC19A1 A>G	21	46945774	46945774	A	G	SLC19A1	c.896T>C	NM_001352510.1	NP_001339439.1:p.(Ile299Thr)	NC_000021.8:g.46945774A>G	VUS	1 lab	46cc062cab
11:76853755 MYO7A G>A	11	76853755	76853755	G	A	MYO7A	c.19G>A	NM_000260.3	NP_000251.3:p.(Gly7Arg)	NC_000011.9:g.76853755G>A	VUS	1 lab	46cc1b7dd0
4:144336732 GAB1 A>G	4	144336732	144336732	A	G	GAB1	c.175A>G	NM_207123.2	NP_997006.1:p.(Ile59Val)	NC_000004.11:g.144336732A>G	VUS	1 lab	46d1a2c8a3
16:2130419 TSC2 T>TC	16	2130419	2130420	T	TC	TSC2	c.3610+42dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2130420dup	(Likely) benign	1 lab	46d1cbbd34
9:98239823 PTCH1 T>C	9	98239823	98239823	T	C	PTCH1	c.1305+6A>G	NM_001083602.1	NP_001077071.1:p.?	NC_000009.11:g.98239823T>C	(Likely) benign	1 lab	46d43e6dcc
15:81585347 IL16 C>T	15	81585347	81585347	C	T	IL16	c.1871C>T	NM_001172128.1	NP_001165599.1:p.(Ser624Phe)	NC_000015.9:g.81585347C>T	VUS	1 lab	46d48b08d8
16:77387780 ADAMTS18 T>G	16	77387780	77387780	T	G	ADAMTS18	c.948A>C	NM_001326358.1	NP_001313287.1:p.(Thr316=)	NC_000016.9:g.77387780T>G	(Likely) benign	1 lab	46d5185703
6:152792881 SYNE1 T>C	6	152792881	152792881	T	C	SYNE1	c.1483A>G	NM_182961.3	NP_892006.3:p.(Thr495Ala)	NC_000006.11:g.152792881T>C	(Likely) benign	1 lab	46d68ac2d4
4:44692842 GUF1 G>GATGA	4	44692842	44692848	G	GATGA	GUF1	c.1447_1450dup	NM_021927.2	NP_068746.2:p.(Tyr484Ter)	NC_000004.11:g.44692845_44692848dup	(Likely) pathogenic	1 lab	46d6d524c7
X:107037659 NCBP2L G>A	X	107037659	107037659	G	A	NCBP2L	c.209G>A	NM_001348372.1	NP_001335301.1:p.(Gly70Asp)	NC_000023.10:g.107037659G>A	VUS	1 lab	46d8f013fb
X:17818835 RAI2 G>T	X	17818835	17818835	G	T	RAI2	c.1296C>A	NM_001172743.1	NP_001166214.1:p.(Gly432=)	NC_000023.10:g.17818835G>T	(Likely) benign	1 lab	46d92f674f
X:153418420 OPN1LW A>AGGTCTCT	X	153418420	153418436	A	AGGTCTCT	OPN1LW	c.427_433dup	NM_020061.5	NP_064445.2:p.(Ala145ValfsTer23)	NC_000023.10:g.153418430_153418436dup	(Likely) pathogenic	1 lab	46df0088ec
15:90172758 KIF7 G>A	15	90172758	90172758	G	A	KIF7	c.3365C>T	NM_198525.2	NP_940927.2:p.(Ser1122Leu)	NC_000015.9:g.90172758G>A	VUS	1 lab	46dfc45baf
5:169096298 DOCK2 A>G	5	169096298	169096298	A	G	DOCK2	c.134A>G	NM_004946.3	NP_004937.1:p.(Tyr45Cys)	NC_000005.9:g.169096298A>G	VUS	1 lab	46e08c11ad
17:41245346 BRCA1 T>G	17	41245346	41245346	T	G	BRCA1	c.2202A>C	NM_007294.4	NP_009225.1:p.(Lys734Asn)	NC_000017.10:g.41245346T>G	(Likely) benign	1 lab	ee33a63baa
2:44513202 SLC3A1 T>C	2	44513202	44513202	T	C	SLC3A1	c.797T>C	NM_000341.3	NP_000332.2:p.(Phe266Ser)	NC_000002.11:g.44513202T>C	VUS	1 lab	46e11df73e
20:3209767 SLC4A11 G>A	20	3209767	3209767	G	A	SLC4A11	c.2121C>T	NM_001174090.1	NP_001167561.1:p.(Ala707=)	NC_000020.10:g.3209767G>A	(Likely) benign	1 lab	46e6057205
X:129060015 UTP14A G>A	X	129060015	129060015	G	A	UTP14A	c.1870G>A	NM_006649.4	NP_006640.2:p.(Val624Met)	NC_000023.10:g.129060015G>A	(Likely) benign	1 lab	46e65a5755
12:123105063 KNTC1 G>A	12	123105063	123105063	G	A	KNTC1	c.6187G>A	NM_014708.5	NP_055523.1:p.(Ala2063Thr)	NC_000012.11:g.123105063G>A	VUS	1 lab	46e830c059
15:65370417 KBTBD13 C>T	15	65370417	65370417	C	T	KBTBD13	c.1264C>T	NM_001101362.3	NP_001094832.1:p.(Arg422Trp)	NC_000015.9:g.65370417C>T	(Likely) benign	1 lab	ee342b7546
8:144993467 PLEC C>T	8	144993467	144993467	C	T	PLEC	c.10933G>A	NM_201380.3	NP_958782.1:p.(Asp3645Asn)	NC_000008.10:g.144993467C>T	VUS	1 lab	46e916660b
X:64738059 LAS1L C>T	X	64738059	64738059	C	T	LAS1L	c.1735G>A	NM_031206.4	NP_112483.1:p.(Val579Ile)	NC_000023.10:g.64738059C>T	(Likely) benign	1 lab	46e964d081
1:154794575 KCNN3 C>T	1	154794575	154794575	C	T	KCNN3	c.1019G>A	NM_002249.6	NP_002240.3:p.(Arg340His)	NC_000001.10:g.154794575C>T	VUS	1 lab	ee34d7afae
9:100190807 TDRD7 T>C	9	100190807	100190807	T	C	TDRD7	c.60T>C	NM_014290.2	NP_055105.2:p.(Asn20=)	NC_000009.11:g.100190807T>C	(Likely) benign	1 lab	46eaf6ad7b
2:202137668 CASP8 A>G	2	202137668	202137668	A	G	CASP8	c.772+3A>G	NM_001080125.1	NP_001073594.1:p.?	NC_000002.11:g.202137668A>G	VUS	1 lab	46ec448edf
7:4169569 SDK1 C>T	7	4169569	4169569	C	T	SDK1	c.3969C>T	NM_152744.3	NP_689957.3:p.(Pro1323=)	NC_000007.13:g.4169569C>T	(Likely) benign	1 lab	46f29395a4
11:66610422 TOP6BL C>T	11	66610422	66610422	C	T	TOP6BL	c.1850C>T	NM_024650.3	NP_078926.3:p.(Ala617Val)	NC_000011.9:g.66610422C>T	VUS	1 lab	46f2c338e5
2:152499761 NEB T>C	2	152499761	152499761	T	C	NEB	c.8063A>G	NM_001271208.1	NP_001258137.1:p.(His2688Arg)	NC_000002.11:g.152499761T>C	VUS	1 lab	46f3418aa5
7:21882252 DNAH11 G>A	7	21882252	21882252	G	A	DNAH11				NC_000007.13:g.21882252G>A	(Likely) benign	1 lab	8d01e84a7b
X:153418460 OPN1LW C>A	X	153418460	153418460	C	A	OPN1LW	c.457=	NM_020061.5	NP_064445.2:p.(Met153=)	NC_000023.10:g.153418460C>A	(Likely) benign	1 lab	46f3e75184
X:134947942 CT45A5 C>T	X	134947942	134947942	C	T	CT45A5				NC_000023.10:g.134947942C>T	(Likely) benign	1 lab	46f4405ffb
14:105395256 PLD4 C>G	14	105395256	105395256	C	G	PLD4	c.476C>G	NM_001308174.1	NP_001295103.1:p.(Ser159Trp)	NC_000014.8:g.105395256C>G	VUS	1 lab	46f4fc278a
2:201677156 BZW1 C>G	2	201677156	201677156	C	G	BZW1	c.26C>G	NM_001207068.2	NP_001193997.1:p.(Ala9Gly)	NC_000002.11:g.201677156C>G	VUS	1 lab	46f5513568
1:114401177 PTPN22 C>G	1	114401177	114401177	C	G	PTPN22	c.292G>C	NM_015967.7	NP_057051.3:p.(Ala98Pro)	NC_000001.10:g.114401177C>G	VUS	1 lab	ee36407993
9:140128914 SLC34A3 C>T	9	140128914	140128914	C	T	SLC34A3	c.1140C>T	NM_001177317.1	NP_001170788.1:p.(Leu380=)	NC_000009.11:g.140128914C>T	(Likely) benign	1 lab	46fa4b6933
X:39934419 BCOR C>T	X	39934419	39934419	C	T	BCOR	c.180G>A	NM_001123385.1	NP_001116857.1:p.(Thr60=)	NC_000023.10:g.39934419C>T	(Likely) benign	1 lab	46fbc840f8
X:49082365 CACNA1F G>A	X	49082365	49082365	G	A	CACNA1F	c.1684+6C>T	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49082365G>A	(Likely) benign	1 lab	46fdc7a0ea
7:103124124 RELN T>C	7	103124124	103124124	T	C	RELN	c.10157A>G	NM_005045.4	NP_005036.2:p.(Gln3386Arg)	NC_000007.13:g.103124124T>C	VUS	1 lab	ee3826cf53
17:39619092 KRT32 C>T	17	39619092	39619092	C	T	KRT32	c.1207G>A	NM_002278.3	NP_002269.3:p.(Glu403Lys)	NC_000017.10:g.39619092C>T	VUS	1 lab	46ff1d48c4
2:42990388 OXER1 C>G	2	42990388	42990388	C	G	OXER1	c.932G>C	NM_148962.4	NP_683765.1:p.(Ser311Thr)	NC_000002.11:g.42990388C>G	(Likely) benign	1 lab	4700a29ae2
9:133948216 LAMC3 G>A	9	133948216	133948216	G	A	LAMC3	c.3411G>A	NM_006059.3	NP_006050.3:p.(Ala1137=)	NC_000009.11:g.133948216G>A	(Likely) benign	1 lab	4702a600b1
3:46008789 FYCO1 C>T	3	46008789	46008789	C	T	FYCO1	c.2037G>A	NM_024513.3	NP_078789.2:p.(Ala679=)	NC_000003.11:g.46008789C>T	(Likely) benign	1 lab	470393464f
8:53853203 NPBWR1 A>T	8	53853203	53853203	A	T	NPBWR1	c.736A>T	NM_005285.3	NP_005276.2:p.(Lys246Ter)	NC_000008.10:g.53853203A>T	VUS	1 lab	4703a50bd8
7:45039962 CCM2 G>A	7	45039962	45039962	G	A	CCM2	c.30G>A	NM_031443.3	NP_113631.1:p.(Lys10=)	NC_000007.13:g.45039962G>A	(Likely) pathogenic	1 lab	4703c49492
2:163139085 IFIH1 A>T	2	163139085	163139085	A	T	IFIH1	c.1097T>A	NM_022168.4	NP_071451.2:p.(Val366Glu)	NC_000002.11:g.163139085A>T	VUS	1 lab	4703cdeaa6
7:140373879 ADCK2 TGA>T	7	140373879	140373886	TGA	T	ADCK2	c.755_756del	NM_052853.4	NP_443085.2:p.(Glu252AlafsTer28)	NC_000007.13:g.140373885_140373886del	VUS	1 lab	4703f17516
11:124743641 ROBO3 C>T	11	124743641	124743641	C	T	ROBO3	c.1667C>T	NM_022370.3	NP_071765.2:p.(Pro556Leu)	NC_000011.9:g.124743641C>T	VUS	1 lab	4703ffa523
2:228552944 SLC19A3 G>C	2	228552944	228552944	G	C	SLC19A3	c.1252C>G	NM_025243.3	NP_079519.1:p.(Gln418Glu)	NC_000002.11:g.228552944G>C	VUS	1 lab	47045277d1
11:17655383 OTOG G>A	11	17655383	17655383	G	A	OTOG	c.7265G>A	NM_001277269.1	NP_001264198.1:p.(Arg2422Gln)	NC_000011.9:g.17655383G>A	VUS	1 lab	4705659bb2
13:78475259 EDNRB T>C	13	78475259	78475259	T	C	EDNRB	c.1155A>G	NM_001201397.1	NP_001188326.1:p.(Leu385=)	NC_000013.10:g.78475259T>C	(Likely) benign	1 lab	47082c5454
5:37120445 CPLANE1 A>G	5	37120445	37120445	A	G	CPLANE1	c.9024-3T>C	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37120445A>G	(Likely) benign	1 lab	470aa29ebe
12:49444989 KMT2D G>T	12	49444989	49444989	G	T	KMT2D	c.2477C>A	NM_003482.3	NP_003473.3:p.(Pro826His)	NC_000012.11:g.49444989G>T	(Likely) benign	1 lab	470b481479
2:179432508 TTN T>G	2	179432508	179432508	T	G	TTN	c.78351A>C	NM_001267550.1	NP_001254479.1:p.(Gly26117=)	NC_000002.11:g.179432508T>G	(Likely) benign	1 lab	470ddba1b8
8:118825159 EXT1 T>C	8	118825159	118825159	T	C	EXT1	c.1674A>G	NM_000127.2	NP_000118.2:p.(Thr558=)	NC_000008.10:g.118825159T>C	(Likely) benign	1 lab	470f02393e
20:3678595 SIGLEC1 C>A	20	3678595	3678595	C	A	SIGLEC1	c.1972G>T	NM_023068.4	NP_075556.1:p.(Gly658Cys)	NC_000020.10:g.3678595C>A	VUS	1 lab	47100666c4
1:216420387 USH2A G>C	1	216420387	216420387	G	C	USH2A	c.2349C>G	NM_206933.2	NP_996816.2:p.(Asn783Lys)	NC_000001.10:g.216420387G>C	VUS	1 lab	47128ff34b
9:20881888 FOCAD C>T	9	20881888	20881888	C	T	FOCAD	c.2336C>T	NM_017794.4	NP_060264.4:p.(Thr779Ile)	NC_000009.11:g.20881888C>T	VUS	1 lab	4713f6a388
9:139907692 ABCA2 G>A	9	139907692	139907692	G	A	ABCA2	c.4629C>T	NM_001606.5	NP_001597.2:p.(Cys1543=)	NC_000009.11:g.139907692G>A	(Likely) benign	1 lab	4714ad4d06
7:42005621 GLI3 G>GC	7	42005621	42005623	G	GC	GLI3	c.3049dup	NM_000168.5	NP_000159.3:p.(Ala1017GlyfsTer67)	NC_000007.13:g.42005623dup	(Likely) pathogenic	1 lab	4714ded03f
4:55138642 PDGFRA C>T	4	55138642	55138642	C	T	PDGFRA	c.1319C>T	NM_006206.4	NP_006197.1:p.(Thr440Met)	NC_000004.11:g.55138642C>T	(Likely) benign	1 lab	47150f8a6e
19:9087456 MUC16 G>A	19	9087456	9087456	G	A	MUC16	c.4359C>T	NM_024690.2	NP_078966.2:p.(Ile1453=)	NC_000019.9:g.9087456G>A	(Likely) benign	1 lab	471598fd53
12:1949941 CACNA2D4 C>A	12	1949941	1949941	C	A	CACNA2D4	c.2515G>T	NM_172364.4	NP_758952.4:p.(Ala839Ser)	NC_000012.11:g.1949941C>A	VUS	1 lab	471675e3fb
10:5789674 TASOR2 A>G	10	5789674	5789674	A	G	TASOR2	c.4290A>G	NM_001321784.1	NP_001308713.1:p.(Thr1430=)	NC_000010.10:g.5789674A>G	VUS	1 lab	4717e9a0ab
9:65506872 SPATA31A7 G>A	9	65506872	65506872	G	A	SPATA31A7	c.688C>T	NM_015667.2	NP_056482.2:p.(Arg230Trp)	NC_000009.11:g.65506872G>A	VUS	1 lab	4718bcf2e2
22:51065309 ARSA C>T	22	51065309	51065309	C	T	ARSA	c.637G>A	NM_000487.5	NP_000478.3:p.(Asp213Asn)	NC_000022.10:g.51065309C>T	(Likely) benign	1 lab	471960d58c
14:64921502 MTHFD1 A>G	14	64921502	64921502	A	G	MTHFD1	c.2627A>G	NM_005956.4	NP_005947.3:p.(Glu876Gly)	NC_000014.8:g.64921502A>G	VUS	1 lab	4719a47f7f
5:137519407 KIF20A C>A	5	137519407	137519407	C	A	KIF20A	c.1170C>A	NM_005733.3	NP_005724.1:p.(His390Gln)	NC_000005.9:g.137519407C>A	VUS	1 lab	471a33f62a
10:180834 ZMYND11 T>C	10	180834	180834	T	C	ZMYND11	c.-20+2T>C	NM_001202465.3	NP_001189394.1:p.?	NC_000010.10:g.180834T>C	VUS	1 lab	ee3eef88d3
11:118133173 MPZL2 C>T	11	118133173	118133173	C	T	MPZL2	c.416G>A	NM_005797.4	NP_005788.1:p.(Arg139Gln)	NC_000011.9:g.118133173C>T	(Likely) benign	1 lab	471c77f2a1
19:5212425 PTPRS T>G	19	5212425	5212425	T	G	PTPRS	c.4692A>C	NM_002850.3	NP_002841.3:p.(Pro1564=)	NC_000019.9:g.5212425T>G	(Likely) benign	1 lab	471d55eeae
3:123441179 MYLK C>T	3	123441179	123441179	C	T	MYLK	c.1652-52G>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123441179C>T	(Likely) benign	1 lab	471fa0fa85
3:50229173 GNAT1 C>T	3	50229173	50229173	C	T	GNAT1	c.15C>T	NM_144499.2	NP_653082.1:p.(Ala5=)	NC_000003.11:g.50229173C>T	(Likely) benign	1 lab	471ffc24ed
21:15561439 LIPI A>ACCC	21	15561439	15561443	A	ACCC	LIPI	c.408_410dup	NM_198996.3	NP_945347.2:p.(Gly137dup)	NC_000021.8:g.15561441_15561443dup	VUS	1 lab	4720cc9144
15:90188616 KIF7 G>C	15	90188616	90188616	G	C	KIF7	c.1989C>G	NM_198525.2	NP_940927.2:p.(Gly663=)	NC_000015.9:g.90188616G>C	(Likely) benign	1 lab	4721b894cb
9:126135696 CRB2 CAT>C	9	126135696	126135698	CAT	C	CRB2	c.2887_2888del	NM_173689.7	NP_775960.4:p.(Met963GlyfsTer29)	NC_000009.11:g.126135697_126135698del	(Likely) pathogenic	1 lab	47226b4992
18:43467837 EPG5 G>A	18	43467837	43467837	G	A	EPG5	c.4988C>T	NM_020964.3	NP_066015.2:p.(Pro1663Leu)	NC_000018.9:g.43467837G>A	VUS	1 lab	4722bde93b
14:68252858 ZFYVE26 G>A	14	68252858	68252858	G	A	ZFYVE26	c.3112C>T	NM_015346.3	NP_056161.2:p.(Leu1038Phe)	NC_000014.8:g.68252858G>A	(Likely) benign	1 lab	47237be104
2:176981762 HOXD10 G>A	2	176981762	176981762	G	A	HOXD10	c.201G>A	NM_002148.3	NP_002139.2:p.(Met67Ile)	NC_000002.11:g.176981762G>A	VUS	1 lab	4723d81ee8
2:178879150 PDE11A C>T	2	178879150	178879150	C	T	PDE11A	c.950G>A	NM_016953.4	NP_058649.3:p.(Gly317Glu)	NC_000002.11:g.178879150C>T	VUS	1 lab	ee42f3846f
5:13727736 DNAH5 A>C	5	13727736	13727736	A	C	DNAH5	c.11913T>G	NM_001369.2	NP_001360.1:p.(Ile3971Met)	NC_000005.9:g.13727736A>C	VUS	1 lab	4724ae2f6c
16:2112953 TSC2 A>G	16	2112953	2112953	A	G	TSC2	c.1362-20A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112953A>G	VUS	1 lab	4aae030d14
11:62284668 AHNAK C>A	11	62284668	62284668	C	A	AHNAK	c.17221G>T	NM_001620.3	NP_001611.1:p.(Gly5741Cys)	NC_000011.9:g.62284668C>A	VUS	1 lab	ee45d36956
4:183713488 TENM3 G>A	4	183713488	183713488	G	A	TENM3	c.5663G>A	NM_001080477.3	NP_001073946.1:p.(Arg1888His)	NC_000004.11:g.183713488G>A	VUS	1 lab	4727215ad2
17:71189295 COG1 G>C	17	71189295	71189295	G	C	COG1	c.87G>C	NM_018714.2	NP_061184.1:p.(Glu29Asp)	NC_000017.10:g.71189295G>C	VUS	1 lab	4729e411ab
9:120475488 TLR4 A>G	9	120475488	120475488	A	G	TLR4	c.962A>G	NM_003266.3	NP_003257.1:p.(Asn321Ser)	NC_000009.11:g.120475488A>G	(Likely) benign	1 lab	472a1bc955
17:76137137 TMC8 C>T	17	76137137	76137137	C	T	TMC8	c.2125C>T	NM_152468.4	NP_689681.2:p.(His709Tyr)	NC_000017.10:g.76137137C>T	(Likely) benign	1 lab	472a586b3a
8:10467588 RP1L1 T>C	8	10467588	10467588	T	C	RP1L1	c.4020A>G	NM_178857.5	NP_849188.4:p.(Glu1340=)	NC_000008.10:g.10467588T>C	(Likely) benign	1 lab	472cc82e7a
3:132434030 NPHP3 G>C	3	132434030	132434030	G	C	NPHP3	c.856C>G	NM_153240.4	NP_694972.3:p.(Gln286Glu)	NC_000003.11:g.132434030G>C	VUS	1 lab	472d5759be
3:186257369 CRYGS G>T	3	186257369	186257369	G	T	CRYGS	c.39C>A	NM_017541.3	NP_060011.1:p.(Asp13Glu)	NC_000003.11:g.186257369G>T	VUS	1 lab	472d5ae564
17:39550373 KRT31 G>A	17	39550373	39550373	G	A	KRT31	c.1146C>T	NM_002277.2	NP_002268.2:p.(Ile382=)	NC_000017.10:g.39550373G>A	(Likely) benign	1 lab	472d6882a2
18:2937726 LPIN2 G>A	18	2937726	2937726	G	A	LPIN2	c.1132C>T	NM_014646.2	NP_055461.1:p.(Pro378Ser)	NC_000018.9:g.2937726G>A	(Likely) benign	1 lab	472ea74269
21:47783389 PCNT C>T	21	47783389	47783389	C	T	PCNT	c.2155-6C>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47783389C>T	(Likely) benign	1 lab	472f26612d
9:80919852 PSAT1 T>C	9	80919852	80919852	T	C	PSAT1	c.393T>C	NM_058179.3	NP_478059.1:p.(Tyr131=)	NC_000009.11:g.80919852T>C	(Likely) benign	1 lab	4730c1e194
1:236180455 NID1 C>T	1	236180455	236180455	C	T	NID1	c.2247G>A	NM_002508.2	NP_002499.2:p.(Thr749=)	NC_000001.10:g.236180455C>T	(Likely) benign	1 lab	4730ef1e4d
14:55510982 SOCS4 C>T	14	55510982	55510982	C	T	SOCS4	c.1223C>T	NM_199421.2	NP_955453.1:p.(Ala408Val)	NC_000014.8:g.55510982C>T	VUS	1 lab	ee462f87da
12:52695864 KRT86 G>A	12	52695864	52695864	G	A	KRT86	c.164G>A	NM_001320198.2	NP_001307127.1:p.(Arg55Gln)	NC_000012.11:g.52695864G>A	(Likely) benign	1 lab	ee48141d3f
2:191110938 HIBCH A>G	2	191110938	191110938	A	G	HIBCH	c.751T>C	NM_014362.3	NP_055177.2:p.(Ser251Pro)	NC_000002.11:g.191110938A>G	VUS	1 lab	4734d76015
4:8869727 HMX1 C>T	4	8869727	8869727	C	T	HMX1	c.739G>A	NM_018942.2	NP_061815.2:p.(Val247Ile)	NC_000004.11:g.8869727C>T	VUS	1 lab	47365de39b
18:7016665 LAMA1 G>A	18	7016665	7016665	G	A	LAMA1	c.2814C>T	NM_005559.3	NP_005550.2:p.(Gly938=)	NC_000018.9:g.7016665G>A	(Likely) benign	1 lab	473720d1e8
1:23395554 KDM1A G>A	1	23395554	23395554	G	A	KDM1A	c.1323G>A	NM_001009999.2	NP_001009999.1:p.(Gln441=)	NC_000001.10:g.23395554G>A	(Likely) benign	1 lab	4737512b29
1:17323599 ATP13A2 G>A	1	17323599	17323599	G	A	ATP13A2	c.1096C>T	NM_001141973.2	NP_001135445.1:p.(Arg366Trp)	NC_000001.10:g.17323599G>A	VUS	1 lab	4738ce3040
7:66098384 KCTD7 G>A	7	66098384	66098384	G	A	KCTD7	c.267G>A	NM_153033.4	NP_694578.1:p.(Thr89=)	NC_000007.13:g.66098384G>A	(Likely) benign	1 lab	473a7cc1f3
22:45795121 SMC1B C>T	22	45795121	45795121	C	T	SMC1B	c.967G>A	NM_148674.5	NP_683515.4:p.(Glu323Lys)	NC_000022.10:g.45795121C>T	VUS	1 lab	ee49cf9e19
7:151949756 KMT2C C>A	7	151949756	151949756	C	A	KMT2C	c.1344G>T	NM_170606.3	NP_733751.2:p.(Gln448His)	NC_000007.13:g.151949756C>A	(Likely) benign	1 lab	ee4bc1ecdd
11:26669362 ANO3 C>T	11	26669362	26669362	C	T	ANO3	c.2535C>T	NM_031418.4	NP_113606.2:p.(Tyr845=)	NC_000011.9:g.26669362C>T	(Likely) benign	1 lab	4742cd8c01
9:139996059 MAN1B1 G>A	9	139996059	139996059	G	A	MAN1B1	c.1189G>A	NM_016219.4	NP_057303.2:p.(Glu397Lys)	NC_000009.11:g.139996059G>A	(Likely) pathogenic	1 lab	4743a2f7a8
X:148584959 IDS G>A	X	148584959	148584959	G	A	IDS	c.301C>T	NM_000202.7	NP_000193.1:p.(Arg101Cys)	NC_000023.10:g.148584959G>A	VUS	1 lab	47452dfa1b
X:69498455 ARR3 T>C	X	69498455	69498455	T	C	ARR3	c.869T>C	NM_004312.2	NP_004303.2:p.(Leu290Pro)	NC_000023.10:g.69498455T>C	(Likely) benign	1 lab	4746a6d7c0
4:84205995 COQ2 A>C	4	84205995	84205995	A	C	COQ2	c.73T>G	NM_015697.8	NP_056512.5:p.(Leu25Val)	NC_000004.11:g.84205995A>C	(Likely) benign	1 lab	4747fa220e
16:23383157 SCNN1B C>A	16	23383157	23383157	C	A	SCNN1B	c.1105C>A	NM_000336.2	NP_000327.2:p.(Pro369Thr)	NC_000016.9:g.23383157C>A	VUS	1 lab	47485d5ba1
12:49428048 KMT2D C>T	12	49428048	49428048	C	T	KMT2D	c.10542G>A	NM_003482.3	NP_003473.3:p.(Leu3514=)	NC_000012.11:g.49428048C>T	(Likely) benign	1 lab	474be5c431
6:7569482 DSP G>A	6	7569482	7569482	G	A	DSP	c.1483G>A	NM_004415.2	NP_004406.2:p.(Val495Met)	NC_000006.11:g.7569482G>A	VUS	1 lab	474cb2745b
1:22155345 HSPG2 G>A	1	22155345	22155345	G	A	HSPG2	c.12223C>T	NM_001291860.1	NP_001278789.1:p.(Arg4075Cys)	NC_000001.10:g.22155345G>A	(Likely) benign	1 lab	474d309088
2:206991515 NDUFS1 C>G	2	206991515	206991515	C	G	NDUFS1	c.1938G>C	NM_005006.6	NP_004997.4:p.(Leu646Phe)	NC_000002.11:g.206991515C>G	VUS	1 lab	474ddc3589
2:44202365 LRPPRC T>A	2	44202365	44202365	T	A	LRPPRC	c.738-9A>T	NM_133259.3	NP_573566.2:p.?	NC_000002.11:g.44202365T>A	(Likely) benign	1 lab	474f197192
6:116600237 TSPYL1 G>A	6	116600237	116600237	G	A	TSPYL1	c.757C>T	NM_003309.3	NP_003300.1:p.(Leu253=)	NC_000006.11:g.116600237G>A	(Likely) benign	1 lab	4753a79452
7:138583765 KIAA1549 G>A	7	138583765	138583765	G	A	KIAA1549	c.3783C>T	NM_001164665.1	NP_001158137.1:p.(Asn1261=)	NC_000007.13:g.138583765G>A	(Likely) benign	1 lab	475596c093
3:142266767 ATR T>A	3	142266767	142266767	T	A	ATR	c.3172-15A>T	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142266767T>A	(Likely) benign	1 lab	475748c166
19:41854294 TGFB1 C>T	19	41854294	41854294	C	T	TGFB1	c.422G>A	NM_000660.6	NP_000651.3:p.(Arg141Gln)	NC_000019.9:g.41854294C>T	VUS	1 lab	4757630c86
5:140222168 PCDHA8 A>G	5	140222168	140222168	A	G	PCDHA8	c.1262A>G	NM_018911.3	NP_061734.1:p.(Tyr421Cys)	NC_000005.9:g.140222168A>G	(Likely) benign	1 lab	4757bc5fc3
2:179427728 TTN T>C	2	179427728	179427728	T	C	TTN	c.83131A>G	NM_001267550.1	NP_001254479.1:p.(Lys27711Glu)	NC_000002.11:g.179427728T>C	VUS	1 lab	475a395510
3:119120816 ARHGAP31 G>T	3	119120816	119120816	G	T	ARHGAP31	c.1217G>T	NM_020754.4	NP_065805.2:p.(Gly406Val)	NC_000003.11:g.119120816G>T	VUS	1 lab	ee4e5e93c1
6:109690073 CD164 C>T	6	109690073	109690073	C	T	CD164	c.575G>A	NM_006016.5	NP_006007.2:p.(Arg192Gln)	NC_000006.11:g.109690073C>T	(Likely) benign	1 lab	475b7ef2d8
12:124824613 NCOR2 G>A	12	124824613	124824613	G	A	NCOR2	c.5626C>T	NM_006312.6	NP_006303.4:p.(His1876Tyr)	NC_000012.11:g.124824613G>A	VUS	1 lab	ee512f75ac
3:130711783 ATP2C1 G>A	3	130711783	130711783	G	A	ATP2C1	c.1840-12G>A	NM_001199179.3	NP_001186108.1:p.?	NC_000003.11:g.130711783G>A	(Likely) benign	1 lab	ee527a491a
12:111856378 SH2B3 C>T	12	111856378	111856378	C	T	SH2B3	c.429C>T	NM_005475.2	NP_005466.1:p.(Arg143=)	NC_000012.11:g.111856378C>T	(Likely) benign	1 lab	475cb5a027
2:113819812 IL36RN C>T	2	113819812	113819812	C	T	IL36RN	c.227C>T	NM_012275.2	NP_036407.1:p.(Pro76Leu)	NC_000002.11:g.113819812C>T	VUS	1 lab	475f3863a5
X:38182738 RPGR G>T	X	38182738	38182738	G	T	RPGR	c.68C>A	NM_001034853.1	NP_001030025.1:p.(Ala23Asp)	NC_000023.10:g.38182738G>T	VUS	1 lab	47609895d6
1:183212401 LAMC2 C>T	1	183212401	183212401	C	T	LAMC2	c.3448C>T	NM_005562.2	NP_005553.2:p.(Arg1150Cys)	NC_000001.10:g.183212401C>T	VUS	1 lab	47609b08f7
X:69521860 KIF4A G>A	X	69521860	69521860	G	A	KIF4A	c.627G>A	NM_012310.4	NP_036442.3:p.(Ser209=)	NC_000023.10:g.69521860G>A	(Likely) benign	1 lab	4760cd747e
17:1636946 WDR81 G>A	17	1636946	1636946	G	A	WDR81	c.4615G>A	NM_001163809.1	NP_001157281.1:p.(Gly1539Arg)	NC_000017.10:g.1636946G>A	(Likely) benign	1 lab	476325a53f
20:42814947 JPH2 G>A	20	42814947	42814947	G	A	JPH2	c.379+20C>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42814947G>A	(Likely) benign	1 lab	4763d4e15b
17:60753158 MRC2 C>T	17	60753158	60753158	C	T	MRC2	c.1577C>T	NM_006039.4	NP_006030.2:p.(Thr526Met)	NC_000017.10:g.60753158C>T	VUS	1 lab	47648bd17e
16:77325335 ADAMTS18 A>C	16	77325335	77325335	A	C	ADAMTS18	c.2714T>G	NM_001326358.1	NP_001313287.1:p.(Met905Arg)	NC_000016.9:g.77325335A>C	VUS	1 lab	47675de7e9
X:44732871 KDM6A T>TGGCGGCGGGAAAAGCG	X	44732871	44732887	T	TGGCGGCGGGAAAAGCG	KDM6A	c.75_90dup	NM_021140.4	NP_066963.2:p.(Ser31GlyfsTer39)	NC_000023.10:g.44732872_44732887dup	(Likely) pathogenic	1 lab	ee5729709d
20:34084475 CEP250 A>G	20	34084475	34084475	A	G	CEP250	c.3237A>G	NM_007186.5	NP_009117.2:p.(Gln1079=)	NC_000020.10:g.34084475A>G	(Likely) benign	1 lab	476b6fe282
17:18167844 MIEF2 C>G	17	18167844	18167844	C	G	MIEF2	c.1131C>G	NM_139162.4	NP_631901.2:p.(His377Gln)	NC_000017.10:g.18167844C>G	VUS	1 lab	476b993351
2:179419835 TTN T>G	2	179419835	179419835	T	G	TTN	c.88351A>C	NM_001267550.1	NP_001254479.1:p.(Lys29451Gln)	NC_000002.11:g.179419835T>G	VUS	1 lab	476d473921
12:129308076 SLC15A4 A>G	12	129308076	129308076	A	G	SLC15A4	c.413T>C	NM_145648.4	NP_663623.1:p.(Leu138Pro)	NC_000012.11:g.129308076A>G	(Likely) benign	1 lab	476f668a36
2:232104680 ARMC9 G>A	2	232104680	232104680	G	A	ARMC9	c.805G>A	NM_001271466.3	NP_001258395.1:p.(Val269Ile)	NC_000002.11:g.232104680G>A	VUS	1 lab	47781ea588
5:95018514 SPATA9 C>A	5	95018514	95018514	C	A	SPATA9	c.45G>T	NM_031952.4	NP_114158.2:p.(Lys15Asn)	NC_000005.9:g.95018514C>A	VUS	1 lab	4770bfff76
16:84050744 SLC38A8 C>G	16	84050744	84050744	C	G	SLC38A8	c.953+1G>C	NM_001080442.2	NP_001073911.1:p.?	NC_000016.9:g.84050744C>G	(Likely) pathogenic	1 lab	477222f581
20:62326704 RTEL1 G>A	20	62326704	62326704	G	A	RTEL1	c.3523G>A	NM_001283009.1	NP_001269938.1:p.(Gly1175Arg)	NC_000020.10:g.62326704G>A	(Likely) benign	1 lab	4772294021
19:4430566 CHAF1A A>G	19	4430566	4430566	A	G	CHAF1A	c.1875A>G	NM_005483.3	NP_005474.2:p.(Gly625=)	NC_000019.9:g.4430566A>G	(Likely) benign	1 lab	47723df5df
11:118770053 BCL9L C>T	11	118770053	118770053	C	T	BCL9L	c.3571G>A	NM_182557.2	NP_872363.1:p.(Ala1191Thr)	NC_000011.9:g.118770053C>T	(Likely) benign	1 lab	477248b9e3
12:40618978 LRRK2 T>C	12	40618978	40618978	T	C	LRRK2	c.45T>C	NM_198578.3	NP_940980.3:p.(Thr15=)	NC_000012.11:g.40618978T>C	(Likely) benign	1 lab	47749e63bf
4:86950392 MAPK10 T>C	4	86950392	86950392	T	C	MAPK10	c.1096A>G	NM_001363657.3	NP_001350586.1:p.(Lys366Glu)	NC_000004.11:g.86950392T>C	VUS	1 lab	ee5d951b13
19:6828677 VAV1 A>G	19	6828677	6828677	A	G	VAV1	c.1137A>G	NM_005428.4	NP_005419.2:p.(Thr379=)	NC_000019.9:g.6828677A>G	(Likely) benign	1 lab	4775fc416c
10:112541587 RBM20 C>T	10	112541587	112541587	C	T	RBM20	c.1220C>T	NM_001134363.1	NP_001127835.1:p.(Pro407Leu)	NC_000010.10:g.112541587C>T	VUS	1 lab	4776886278
16:2158909 PKD1 G>A	16	2158909	2158909	G	A	PKD1	c.6259C>T	NM_001009944.2	NP_001009944.2:p.(Pro2087Ser)	NC_000016.9:g.2158909G>A	(Likely) benign	1 lab	4777e5d16a
11:6653559 DCHS1 G>C	11	6653559	6653559	G	C	DCHS1				NC_000011.9:g.6653559G>C	VUS	1 lab	4abc163923
7:82430842 PCLO T>C	7	82430842	82430842	T	C	PCLO	c.14999A>G	NM_033026.5	NP_149015.2:p.(Asp5000Gly)	NC_000007.13:g.82430842T>C	VUS	1 lab	4778a2f8c7
17:7120487 ACADVL C>T	17	7120487	7120487	C	T	ACADVL	c.23C>T	NM_001270447.1	NP_001257376.1:p.(Ala8Val)	NC_000017.10:g.7120487C>T	(Likely) benign	1 lab	477996ef0f
19:45856490 ERCC2 G>A	19	45856490	45856490	G	A	ERCC2	c.1758+10C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45856490G>A	(Likely) benign	1 lab	4779ec4f5b
2:210704073 UNC80 C>T	2	210704073	210704073	C	T	UNC80	c.3169C>T	NM_032504.1	NP_115893.1:p.(His1057Tyr)	NC_000002.11:g.210704073C>T	VUS	1 lab	477abdfcea
12:109924385 UBE3B C>A	12	109924385	109924385	C	A	UBE3B	c.447+5C>A	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924385C>A	(Likely) benign	1 lab	ee5daee49a
9:137696909 COL5A1 T>G	9	137696909	137696909	T	G	COL5A1	c.3203T>G	NM_000093.4	NP_000084.3:p.(Val1068Gly)	NC_000009.11:g.137696909T>G	VUS	1 lab	477cec4f01
21:38269440 HLCS TAAAG>T	21	38269440	38269451	TAAAG	T	HLCS	c.1621-13_1621-10del	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38269448_38269451del	(Likely) benign	1 lab	477f0420f5
17:29665111 NF1 G>A	17	29665111	29665111	G	A	NF1	c.6710G>A	NM_000267.3	NP_000258.1:p.(Arg2237Gln)	NC_000017.10:g.29665111G>A	VUS	1 lab	478053ad77
19:11097578 SMARCA4 T>C	19	11097578	11097578	T	C	SMARCA4	c.761-3T>C	NM_001128844.1	NP_001122316.1:p.?	NC_000019.9:g.11097578T>C	(Likely) benign	1 lab	4780caf541
6:167352403 RNASET2 G>A	6	167352403	167352403	G	A	RNASET2				NC_000006.11:g.167352403G>A	(Likely) benign	1 lab	9271cbf763
16:30774748 RNF40 A>G	16	30774748	30774748	A	G	RNF40	c.310A>G	NM_014771.3	NP_055586.1:p.(Thr104Ala)	NC_000016.9:g.30774748A>G	VUS	1 lab	4781fc73d6
X:69606558 KIF4A A>G	X	69606558	69606558	A	G	KIF4A	c.2118+7A>G	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69606558A>G	(Likely) benign	1 lab	47827a5f7c
16:27460223 IL21R A>C	16	27460223	27460223	A	C	IL21R	c.1302A>C	NM_181079.4	NP_851565.4:p.(Pro434=)	NC_000016.9:g.27460223A>C	(Likely) benign	1 lab	478308ae30
19:38996935 RYR1 C>T	19	38996935	38996935	C	T	RYR1	c.8542-8C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38996935C>T	(Likely) benign	1 lab	47866d0ade
16:72133675 DHX38 G>A	16	72133675	72133675	G	A	DHX38	c.1005G>A	NM_014003.3	NP_054722.2:p.(Glu335=)	NC_000016.9:g.72133675G>A	(Likely) benign	1 lab	47868c335f
8:33246794 POFUT3 C>G	8	33246794	33246794	C	G	POFUT3	c.899G>C	NM_032664.3	NP_116053.3:p.(Gly300Ala)	NC_000008.10:g.33246794C>G	VUS	1 lab	4786c32aa2
18:67781768 RTTN A>G	18	67781768	67781768	A	G	RTTN	c.3596T>C	NM_173630.3	NP_775901.3:p.(Ile1199Thr)	NC_000018.9:g.67781768A>G	VUS	1 lab	4789658a89
17:1561640 PRPF8 G>A	17	1561640	1561640	G	A	PRPF8	c.5412C>T	NM_006445.3	NP_006436.3:p.(Asn1804=)	NC_000017.10:g.1561640G>A	(Likely) benign	1 lab	478981e137
4:8873108 HMX1 C>T	4	8873108	8873108	C	T	HMX1	c.233G>A	NM_018942.2	NP_061815.2:p.(Gly78Asp)	NC_000004.11:g.8873108C>T	(Likely) benign	1 lab	478ae8639c
17:41215805 BRCA1 CA>C	17	41215805	41215810	CA	C	BRCA1	c.5152+85del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215810del	(Likely) benign	1 lab	478be91560
12:58158181 CYP27B1 C>T	12	58158181	58158181	C	T	CYP27B1	c.1116G>A	NM_000785.3	NP_000776.1:p.(Ala372=)	NC_000012.11:g.58158181C>T	(Likely) benign	1 lab	478c308031
3:48602226 COL7A1 G>C	3	48602226	48602226	G	C	COL7A1	c.8808C>G	NM_000094.3	NP_000085.1:p.(Ser2936Arg)	NC_000003.11:g.48602226G>C	(Likely) benign	1 lab	478cceabdf
16:21270140 CRYM C>T	16	21270140	21270140	C	T	CRYM	c.907G>A	NM_001888.4	NP_001879.1:p.(Ala303Thr)	NC_000016.9:g.21270140C>T	VUS	1 lab	478e79caf1
9:100245640 TDRD7 C>T	9	100245640	100245640	C	T	TDRD7	c.2915+7C>T	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100245640C>T	(Likely) benign	1 lab	478ef03fd6
1:225459667 DNAH14 G>A	1	225459667	225459667	G	A	DNAH14	c.7731G>A	NM_001367479.1	NP_001354408.1:p.(Lys2577=)	NC_000001.10:g.225459667G>A	(Likely) benign	1 lab	478f2b8e81
X:44918355 KDM6A C>CCTTTTGAACTA	X	44918355	44918360	C	CCTTTTGAACTA	KDM6A	c.974+10_974+11insTGAACTACTTT	NM_021140.4	NP_066963.2:p.?	NC_000023.10:g.44918359_44918360insTGAACTACTTT	(Likely) benign	1 lab	ee5fdf4bbb
16:90001531 TUBB3 C>T	16	90001531	90001531	C	T	TUBB3	c.456C>T	NM_001197181.1	NP_001184110.1:p.(Asp152=)	NC_000016.9:g.90001531C>T	(Likely) benign	1 lab	47907ccde3
2:179436192 TTN A>AT	2	179436192	179436193	A	AT	TTN	c.74666dup	NM_001267550.1	NP_001254479.1:p.(Tyr24889Ter)	NC_000002.11:g.179436193dup	(Likely) pathogenic	1 lab	479211568f
X:100615717 BTK C>A	X	100615717	100615717	C	A	BTK	c.717G>T	NM_001287344.1	NP_001274273.1:p.(Glu239Asp)	NC_000023.10:g.100615717C>A	(Likely) benign	1 lab	47939a7c99
12:2024071 CACNA2D4 C>T	12	2024071	2024071	C	T	CACNA2D4	c.258G>A	NM_172364.4	NP_758952.4:p.(Gly86=)	NC_000012.11:g.2024071C>T	(Likely) benign	1 lab	4797bfd77d
16:2106771 TSC2 G>T	16	2106771	2106771	G	T	TSC2	c.774+1G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106771G>T	(Likely) pathogenic	1 lab	4d115a069b
3:58128415 FLNB C>T	3	58128415	58128415	C	T	FLNB	c.5313C>T	NM_001164317.1	NP_001157789.1:p.(Asn1771=)	NC_000003.11:g.58128415C>T	(Likely) benign	1 lab	479a888032
16:53682914 RPGRIP1L T>C	16	53682914	53682914	T	C	RPGRIP1L	c.2266A>G	NM_015272.4	NP_056087.2:p.(Ile756Val)	NC_000016.9:g.53682914T>C	VUS	1 lab	479b33b3c9
14:94844887 SERPINA1 G>C	14	94844887	94844887	G	C	SERPINA1	c.1156C>G	NM_001127701.1	NP_001121173.1:p.(Pro386Ala)	NC_000014.8:g.94844887G>C	(Likely) benign	1 lab	479b61e9af
11:2906621 CDKN1C G>A	11	2906621	2906621	G	A	CDKN1C	c.99C>T	NM_000076.2	NP_000067.1:p.(Leu33=)	NC_000011.9:g.2906621G>A	(Likely) benign	1 lab	479c481762
6:112463445 LAMA4 G>A	6	112463445	112463445	G	A	LAMA4	c.2543C>T	NM_001105206.2	NP_001098676.2:p.(Ser848Leu)	NC_000006.11:g.112463445G>A	(Likely) benign	1 lab	479c9ef69f
1:19229000 ALDH4A1 GGGCGCC>G	1	19229000	19229009	GGGCGCC	G	ALDH4A1	c.12_17del	NM_003748.4	NP_003739.2:p.(Pro6_Ala7del)	NC_000001.10:g.19229004_19229009del	VUS	1 lab	479e271463
2:26725224 OTOF G>A	2	26725224	26725224	G	A	OTOF	c.654C>T	NM_194248.2	NP_919224.1:p.(Pro218=)	NC_000002.11:g.26725224G>A	(Likely) benign	1 lab	479e61d8d1
14:23895194 MYH7 A>G	14	23895194	23895194	A	G	MYH7	c.2141T>C	NM_000257.2	NP_000248.2:p.(Leu714Pro)	NC_000014.8:g.23895194A>G	VUS	1 lab	479ed614a5
11:103107263 DYNC2H1 T>A	11	103107263	103107263	T	A	DYNC2H1	c.9814T>A	NM_001080463.1	NP_001073932.1:p.(Leu3272Ile)	NC_000011.9:g.103107263T>A	VUS	1 lab	479ee20e08
3:15685968 BTD A>T	3	15685968	15685968	A	T	BTD	c.605A>T	NM_000060.4	NP_000051.1:p.(Asn202Ile)	NC_000003.11:g.15685968A>T	(Likely) pathogenic	1 lab	479f6a123a
8:27348761 EPHX2 G>C	8	27348761	27348761	G	C	EPHX2	c.36G>C	NM_001979.5	NP_001970.2:p.(Gly12=)	NC_000008.10:g.27348761G>C	(Likely) benign	1 lab	47a05544f4
8:41832227 KAT6A G>A	8	41832227	41832227	G	A	KAT6A	c.1477C>T	NM_006766.4	NP_006757.2:p.(Leu493=)	NC_000008.10:g.41832227G>A	(Likely) benign	1 lab	47a29212ab
17:11809055 DNAH9 C>T	17	11809055	11809055	C	T	DNAH9	c.11678C>T	NM_001372.3	NP_001363.2:p.(Ser3893Leu)	NC_000017.10:g.11809055C>T	VUS	1 lab	47a29a0ca4
22:23541488 BCR C>T	22	23541488	23541488	C	T	BCR	c.1279+17062C>T	NM_004327.4	NP_004318.3:p.?	NC_000022.10:g.23541488C>T	(Likely) benign	1 lab	ee638bfdb2
1:197115456 ASPM C>T	1	197115456	197115456	C	T	ASPM	c.112G>A	NM_018136.4	NP_060606.3:p.(Val38Ile)	NC_000001.10:g.197115456C>T	(Likely) benign	1 lab	47a407e645
7:75615787 POR C>T	7	75615787	75615787	C	T	POR	c.2031C>T	NM_001367562.1	NP_001354491.1:p.(Asp677=)	NC_000007.13:g.75615787C>T	(Likely) benign	1 lab	47a4b9d2c5
17:78087008 GAA G>A	17	78087008	78087008	G	A	GAA	c.2041-9G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78087008G>A	(Likely) benign	1 lab	47a5cc31e5
8:72211407 EYA1 G>A	8	72211407	72211407	G	A	EYA1	c.701C>T	NM_000503.6	NP_000494.2:p.(Pro234Leu)	NC_000008.10:g.72211407G>A	VUS	1 lab	ee63e2d99a
6:37623589 MDGA1 G>A	6	37623589	37623589	G	A	MDGA1	c.466C>T	NM_153487.3	NP_705691.1:p.(Arg156Cys)	NC_000006.11:g.37623589G>A	VUS	1 lab	47a778895c
X:49082529 CACNA1F C>T	X	49082529	49082529	C	T	CACNA1F	c.1526G>A	NM_005183.3	NP_005174.2:p.(Arg509His)	NC_000023.10:g.49082529C>T	(Likely) benign	1 lab	47a77c59ab
2:121554927 GLI2 G>A	2	121554927	121554927	G	A	GLI2	c.31G>A	NM_005270.4	NP_005261.2:p.(Glu11Lys)	NC_000002.11:g.121554927G>A	VUS	1 lab	47a79a48b3
X:70345226 MED12 A>G	X	70345226	70345226	A	G	MED12	c.2252A>G	NM_005120.2	NP_005111.2:p.(Asn751Ser)	NC_000023.10:g.70345226A>G	VUS	1 lab	47a89c42ee
5:98204222 CHD1 G>T	5	98204222	98204222	G	T	CHD1	c.4225C>A	NM_001270.4	NP_001261.2:p.(Leu1409Met)	NC_000005.9:g.98204222G>T	VUS	1 lab	ee6522e164
7:5567385 ACTB G>A	7	5567385	5567385	G	A	ACTB	c.1122C>T	NM_001101.3	NP_001092.1:p.(Cys374=)	NC_000007.13:g.5567385G>A	(Likely) benign	1 lab	47a95abe54
9:130427574 STXBP1 C>T	9	130427574	130427574	C	T	STXBP1	c.627C>T	NM_003165.3	NP_003156.1:p.(Leu209=)	NC_000009.11:g.130427574C>T	(Likely) benign	1 lab	47a9a26e17
1:237924343 RYR2 C>T	1	237924343	237924343	C	T	RYR2	c.11476+15C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237924343C>T	(Likely) benign	1 lab	ee656d71b1
19:11687604 ACP5 C>T	19	11687604	11687604	C	T	ACP5	c.316G>A	NM_001111035.2	NP_001104505.1:p.(Val106Met)	NC_000019.9:g.11687604C>T	VUS	1 lab	47a9fdd3cd
15:43893732 STRC C>T	15	43893732	43893732	C	T	STRC	c.4563G>A	NM_153700.2	NP_714544.1:p.(Arg1521=)	NC_000015.9:g.43893732C>T	(Likely) benign	1 lab	47ac0897bb
20:8705409 PLCB1 C>T	20	8705409	8705409	C	T	PLCB1	c.1678+10C>T	NM_182734.2	NP_877398.1:p.?	NC_000020.10:g.8705409C>T	(Likely) benign	1 lab	47ac6f611a
10:103826638 HPS6 G>C	10	103826638	103826638	G	C	HPS6	c.1407G>C	NM_024747.6	NP_079023.2:p.(Lys469Asn)	NC_000010.10:g.103826638G>C	VUS	1 lab	ee675e1d5e
16:49670144 ZNF423 C>T	16	49670144	49670144	C	T	ZNF423	c.2739G>A	NM_001271620.2	NP_001258549.1:p.(Thr913=)	NC_000016.9:g.49670144C>T	(Likely) benign	1 lab	47aedc682e
10:101914680 ERLIN1 G>T	10	101914680	101914680	G	T	ERLIN1	c.762C>A	NM_006459.3	NP_006450.2:p.(Ala254=)	NC_000010.10:g.101914680G>T	(Likely) benign	1 lab	47b094ab01
15:100649296 ADAMTS17 C>A	15	100649296	100649296	C	A	ADAMTS17	c.1914G>T	NM_139057.3	NP_620688.2:p.(Ser638=)	NC_000015.9:g.100649296C>A	(Likely) benign	1 lab	47b0bc17a1
1:215848463 USH2A C>T	1	215848463	215848463	C	T	USH2A	c.12790G>A	NM_206933.2	NP_996816.2:p.(Glu4264Lys)	NC_000001.10:g.215848463C>T	(Likely) benign	1 lab	47b211368f
19:11097622 SMARCA4 G>A	19	11097622	11097622	G	A	SMARCA4	c.802G>A	NM_001128849.3	NP_001122321.1:p.(Val268Met)	NC_000019.9:g.11097622G>A	(Likely) benign	1 lab	ee683c5e49
12:40704454 LRRK2 A>G	12	40704454	40704454	A	G	LRRK2	c.4536+3A>G	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40704454A>G	VUS	1 lab	47b25ea150
13:25480102 CPAP G>A	13	25480102	25480102	G	A	CPAP	c.2074C>T	NM_018451.4	NP_060921.3:p.(Arg692Cys)	NC_000013.10:g.25480102G>A	VUS	1 lab	47b3e6fedb
17:29533389 NF1 G>A	17	29533389	29533389	G	A	NF1	c.1392G>A	NM_000267.3	NP_000258.1:p.(Pro464=)	NC_000017.10:g.29533389G>A	VUS	1 lab	47b657bcc9
18:7011997 LAMA1 G>A	18	7011997	7011997	G	A	LAMA1	c.3504C>T	NM_005559.3	NP_005550.2:p.(Thr1168=)	NC_000018.9:g.7011997G>A	(Likely) benign	1 lab	47b6760587
1:197072802 ASPM G>A	1	197072802	197072802	G	A	ASPM	c.5579C>T	NM_018136.4	NP_060606.3:p.(Ala1860Val)	NC_000001.10:g.197072802G>A	(Likely) benign	1 lab	47b6a721f3
X:71708832 HDAC8 G>A	X	71708832	71708832	G	A	HDAC8	c.688C>T	NM_001166419.2	NP_001159891.1:p.(Pro230Ser)	NC_000023.10:g.71708832G>A	VUS	1 lab	ee6a34ee35
9:100124654 CCDC180 G>A	9	100124654	100124654	G	A	CCDC180	c.3965G>A	NM_020893.3	NP_065944.2:p.(Arg1322Gln)	NC_000009.11:g.100124654G>A	(Likely) benign	1 lab	47b7883132
15:62201260 VPS13C T>TA	15	62201260	62201262	T	TA	VPS13C	c.8908dup	NM_020821.2	NP_065872.1:p.(Tyr2970LeufsTer3)	NC_000015.9:g.62201262dup	VUS	1 lab	47b8be6f2d
14:102901551 TECPR2 A>G	14	102901551	102901551	A	G	TECPR2	c.2394+3A>G	NM_014844.4	NP_055659.2:p.?	NC_000014.8:g.102901551A>G	VUS	1 lab	47b989895e
2:232156105 ARMC9 A>G	2	232156105	232156105	A	G	ARMC9	c.1666A>G	NM_001291656.1	NP_001278585.1:p.(Asn556Asp)	NC_000002.11:g.232156105A>G	VUS	1 lab	47baf73d3c
21:37833472 CLDN14 C>T	21	37833472	37833472	C	T	CLDN14	c.522G>A	NM_144492.2	NP_652763.1:p.(Ser174=)	NC_000021.8:g.37833472C>T	(Likely) benign	1 lab	47bb7ee3b1
4:88532076 DSPP T>C	4	88532076	88532076	T	C	DSPP	c.16T>C	NM_014208.3	NP_055023.2:p.(Tyr6His)	NC_000004.11:g.88532076T>C	VUS	1 lab	47bdb201ce
5:127637115 FBN2 T>C	5	127637115	127637115	T	C	FBN2	c.6005A>G	NM_001999.3	NP_001990.2:p.(Asn2002Ser)	NC_000005.9:g.127637115T>C	VUS	1 lab	47bf77ca71
X:152835144 ATP2B3 T>G	X	152835144	152835144	T	G	ATP2B3	c.3426T>G	NM_021949.3	NP_068768.2:p.(His1142Gln)	NC_000023.10:g.152835144T>G	(Likely) benign	1 lab	47c086fe56
22:19885588 TXNRD2 T>C	22	19885588	19885588	T	C	TXNRD2	c.748A>G	NM_006440.5	NP_006431.2:p.(Ser250Gly)	NC_000022.10:g.19885588T>C	VUS	1 lab	ee6c93e429
7:73457507 ELN G>A	7	73457507	73457507	G	A	ELN	c.427+9G>A	NM_000501.3	NP_000492.2:p.?	NC_000007.13:g.73457507G>A	(Likely) benign	1 lab	47c25acdc4
12:109958961 UBE3B C>T	12	109958961	109958961	C	T	UBE3B	c.2085C>T	NM_130466.3	NP_569733.2:p.(Tyr695=)	NC_000012.11:g.109958961C>T	(Likely) benign	1 lab	47c2cec93d
16:18847848 SMG1 A>C	16	18847848	18847848	A	C	SMG1	c.7611T>G	NM_015092.4	NP_055907.3:p.(Ser2537=)	NC_000016.9:g.18847848A>C	(Likely) benign	1 lab	47c332b326
9:1051861 DMRT2 G>A	9	1051861	1051861	G	A	DMRT2	c.248G>A	NM_006557.6	NP_006548.1:p.(Gly83Glu)	NC_000009.11:g.1051861G>A	(Likely) benign	1 lab	47c4a18188
21:46330631 ITGB2 A>G	21	46330631	46330631	A	G	ITGB2	c.58+9T>C	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46330631A>G	(Likely) benign	1 lab	47c5468a4a
13:60384954 DIAPH3 T>C	13	60384954	60384954	T	C	DIAPH3	c.3131A>G	NM_001042517.1	NP_001035982.1:p.(Gln1044Arg)	NC_000013.10:g.60384954T>C	(Likely) benign	1 lab	47c7316d63
8:97244148 UQCRB T>C	8	97244148	97244148	T	C	UQCRB	c.112A>G	NM_001254752.1	NP_001241681.1:p.(Ile38Val)	NC_000008.10:g.97244148T>C	(Likely) benign	1 lab	47c740a822
X:140786523 MISSING C>T	X	140786523	140786523	C	T	MISSING				NC_000023.10:g.140786523C>T	(Likely) benign	1 lab	47c87b00ce
17:7984043 ALOX12B A>G	17	7984043	7984043	A	G	ALOX12B	c.583T>C	NM_001139.3	NP_001130.1:p.(Phe195Leu)	NC_000017.10:g.7984043A>G	(Likely) benign	1 lab	47c96cb0c5
1:197398616 CRB1 G>A	1	197398616	197398616	G	A	CRB1	c.2642G>A	NM_001257965.1	NP_001244894.1:p.(Arg881Gln)	NC_000001.10:g.197398616G>A	(Likely) benign	1 lab	47cac2f2dc
5:150948096 FAT2 G>A	5	150948096	150948096	G	A	FAT2	c.397C>T	NM_001447.2	NP_001438.1:p.(Arg133Cys)	NC_000005.9:g.150948096G>A	VUS	1 lab	47cb20e90d
3:14172457 TMEM43 G>C	3	14172457	14172457	G	C	TMEM43	c.297+1G>C	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14172457G>C	(Likely) pathogenic	1 lab	ee7a03e7e4
19:18273021 PIK3R2 C>CT	19	18273021	18273022	C	CT	PIK3R2	c.912dup	NM_005027.4	NP_005018.2:p.(Lys305Ter)	NC_000019.9:g.18273022dup	VUS	1 lab	ee7bf2488e
2:163139061 IFIH1 C>T	2	163139061	163139061	C	T	IFIH1	c.1121G>A	NM_022168.4	NP_071451.2:p.(Arg374His)	NC_000002.11:g.163139061C>T	(Likely) benign	1 lab	47cddb14cc
6:80626366 ELOVL4 T>C	6	80626366	80626366	T	C	ELOVL4	c.904A>G	NM_022726.3	NP_073563.1:p.(Asn302Asp)	NC_000006.11:g.80626366T>C	(Likely) benign	1 lab	47ce16dd6c
10:75849830 VCL G>A	10	75849830	75849830	G	A	VCL	c.1226G>A	NM_014000.3	NP_054706.1:p.(Arg409Gln)	NC_000010.10:g.75849830G>A	VUS	1 lab	f2d6ac3d83
6:24523060 ALDH5A1 C>T	6	24523060	24523060	C	T	ALDH5A1	c.1119C>T	NM_170740.1	NP_733936.1:p.(Phe373=)	NC_000006.11:g.24523060C>T	(Likely) benign	1 lab	47ced68c44
11:77815493 ALG8 C>A	11	77815493	77815493	C	A	ALG8	c.1185G>T	NM_001007027.2	NP_001007028.1:p.(Leu395Phe)	NC_000011.9:g.77815493C>A	VUS	1 lab	47cf531fc7
20:23028373 THBD A>G	20	23028373	23028373	A	G	THBD	c.*41T>C	NM_000361.3	NP_000352.1:p.?	NC_000020.10:g.23028373A>G	(Likely) benign	1 lab	ee7ca87478
11:10876488 ZBED5 A>G	11	10876488	10876488	A	G	ZBED5	c.5T>C	NM_021211.3	NP_067034.2:p.(Ile2Thr)	NC_000011.9:g.10876488A>G	(Likely) benign	1 lab	47d04d6a0f
17:29486116 NF1 G>C	17	29486116	29486116	G	C	NF1	c.288+5G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486116G>C	(Likely) pathogenic	1 lab	47d06a7272
X:100511151 DRP2 A>G	X	100511151	100511151	A	G	DRP2	c.2291A>G	NM_001939.2	NP_001930.2:p.(Asp764Gly)	NC_000023.10:g.100511151A>G	VUS	1 lab	47d0ba5fe8
1:160012291 KCNJ10 T>C	1	160012291	160012291	T	C	KCNJ10	c.32A>G	NM_002241.4	NP_002232.2:p.(Gln11Arg)	NC_000001.10:g.160012291T>C	VUS	1 lab	47d0bca50a
14:99641543 BCL11B G>GCTC	14	99641543	99641570	G	GCTC	BCL11B	c.1627_1629dup	NM_138576.3	NP_612808.1:p.(Glu543dup)	NC_000014.8:g.99641568_99641570dup	(Likely) benign	1 lab	47d158dc40
9:138590248 SOHLH1 G>A	9	138590248	138590248	G	A	SOHLH1	c.272C>T	NM_001012415.2	NP_001012415.2:p.(Ala91Val)	NC_000009.11:g.138590248G>A	VUS	1 lab	47d9314182
18:72344389 ZNF407 G>A	18	72344389	72344389	G	A	ZNF407	c.1414G>A	NM_017757.2	NP_060227.2:p.(Asp472Asn)	NC_000018.9:g.72344389G>A	VUS	1 lab	47dafce9e3
9:21994259 CDKN2A C>A	9	21994259	21994259	C	A	CDKN2A	c.72G>T	NM_058195.3	NP_478102.2:p.(Val24=)	NC_000009.11:g.21994259C>A	(Likely) benign	1 lab	47dc17b27a
4:2831494 SH3BP2 C>T	4	2831494	2831494	C	T	SH3BP2	c.861C>T	NM_003023.4	NP_003014.3:p.(Thr287=)	NC_000004.11:g.2831494C>T	(Likely) benign	1 lab	47dd749ac7
10:75911080 ADK T>A	10	75911080	75911080	T	A	ADK	c.44T>A	NM_006721.3	NP_006712.2:p.(Val15Glu)	NC_000010.10:g.75911080T>A	VUS	1 lab	47dd955976
8:41582010 ANK1 G>A	8	41582010	41582010	G	A	ANK1	c.774C>T	NM_001142446.1	NP_001135918.1:p.(Leu258=)	NC_000008.10:g.41582010G>A	(Likely) benign	1 lab	47ddcd3000
12:102157994 GNPTAB G>A	12	102157994	102157994	G	A	GNPTAB	c.2701C>T	NM_024312.4	NP_077288.2:p.(Gln901Ter)	NC_000012.11:g.102157994G>A	(Likely) pathogenic	1 lab	47de0fff4e
17:11672508 DNAH9 C>T	17	11672508	11672508	C	T	DNAH9	c.7414C>T	NM_001372.3	NP_001363.2:p.(Arg2472Trp)	NC_000017.10:g.11672508C>T	VUS	1 lab	47de438043
2:48032716 MSH6 T>A	2	48032716	48032716	T	A	MSH6	c.3557-41T>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032716T>A	(Likely) benign	1 lab	47de76e312
5:55255489 IL6ST C>T	5	55255489	55255489	C	T	IL6ST	c.973+741G>A	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55255489C>T	(Likely) benign	1 lab	47deb4b0f7
20:33588339 MYH7B C>T	20	33588339	33588339	C	T	MYH7B	c.5151C>T	NM_020884.4	NP_065935.3:p.(His1717=)	NC_000020.10:g.33588339C>T	(Likely) benign	1 lab	47df234c10
2:101646165 TBC1D8 G>A	2	101646165	101646165	G	A	TBC1D8	c.1965C>T	NM_001102426.2	NP_001095896.1:p.(Asn655=)	NC_000002.11:g.101646165G>A	(Likely) benign	1 lab	47e1929875
14:75052602 LTBP2 G>A	14	75052602	75052602	G	A	LTBP2	c.785C>T	NM_000428.2	NP_000419.1:p.(Pro262Leu)	NC_000014.8:g.75052602G>A	VUS	1 lab	47e1b76ee4
9:80861657 CEP78 C>G	9	80861657	80861657	C	G	CEP78	c.851C>G	NM_001349839.1	NP_001336768.1:p.(Thr284Arg)	NC_000009.11:g.80861657C>G	VUS	1 lab	47e369c981
1:216373132 USH2A G>A	1	216373132	216373132	G	A	USH2A	c.3648C>T	NM_206933.2	NP_996816.2:p.(Tyr1216=)	NC_000001.10:g.216373132G>A	(Likely) benign	1 lab	47e381bfca
X:13734687 TRAPPC2 G>A	X	13734687	13734687	G	A	TRAPPC2	c.204C>T	NM_001011658.3	NP_001011658.1:p.(Asn68=)	NC_000023.10:g.13734687G>A	(Likely) benign	1 lab	47e3c0de6f
X:19398278 MAP3K15 G>A	X	19398278	19398278	G	A	MAP3K15	c.2549C>T	NM_001001671.3	NP_001001671.3:p.(Pro850Leu)	NC_000023.10:g.19398278G>A	(Likely) benign	1 lab	47e4490528
11:62457894 BSCL2 C>T	11	62457894	62457894	C	T	BSCL2	c.1334G>A	NM_001122955.4	NP_001116427.1:p.(Ser445Asn)	NC_000011.9:g.62457894C>T	VUS	1 lab	ee7ddd150b
17:48273001 COL1A1 C>T	17	48273001	48273001	C	T	COL1A1	c.1082G>A	NM_000088.3	NP_000079.2:p.(Arg361Gln)	NC_000017.10:g.48273001C>T	VUS	1 lab	47e8b7cb80
17:29554432 NF1 G>C	17	29554432	29554432	G	C	NF1	c.2326-109G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554432G>C	(Likely) benign	1 lab	47e8c07e20
18:56057937 NEDD4L A>C	18	56057937	56057937	A	C	NEDD4L	c.2715A>C	NM_001144967.2	NP_001138439.1:p.(Thr905=)	NC_000018.9:g.56057937A>C	(Likely) benign	1 lab	47e94ed300
17:76121897 TMC6 G>A	17	76121897	76121897	G	A	TMC6	c.340C>T	NM_007267.7	NP_009198.4:p.(Arg114Trp)	NC_000017.10:g.76121897G>A	VUS	1 lab	ee7f47c51c
16:57732926 DRC7 G>A	16	57732926	57732926	G	A	DRC7	c.368G>A	NM_001289162.1	NP_001276091.1:p.(Cys123Tyr)	NC_000016.9:g.57732926G>A	VUS	1 lab	47eaf9a8e8
9:34514433 DNAI1 C>T	9	34514433	34514433	C	T	DNAI1	c.1611C>T	NM_012144.3	NP_036276.1:p.(Asp537=)	NC_000009.11:g.34514433C>T	(Likely) benign	1 lab	47ed7e9c7b
1:247607371 NLRP3 A>G	1	247607371	247607371	A	G	NLRP3	c.2761A>G	NM_001243133.1	NP_001230062.1:p.(Thr921Ala)	NC_000001.10:g.247607371A>G	(Likely) benign	1 lab	47ee991d3e
18:57103181 CCBE1 C>T	18	57103181	57103181	C	T	CCBE1	c.1180G>A	NM_133459.4	NP_597716.1:p.(Glu394Lys)	NC_000018.9:g.57103181C>T	(Likely) benign	1 lab	47f03c2968
19:8670527 ADAMTS10 C>T	19	8670527	8670527	C	T	ADAMTS10	c.69G>A	NM_030957.3	NP_112219.3:p.(Thr23=)	NC_000019.9:g.8670527C>T	(Likely) benign	1 lab	47f31862c9
16:88787082 PIEZO1 G>T	16	88787082	88787082	G	T	PIEZO1	c.5743C>A	NM_001142864.4	NP_001136336.2:p.(Arg1915Ser)	NC_000016.9:g.88787082G>T	(Likely) benign	1 lab	47f50ab2d5
21:37603186 DOP1B G>T	21	37603186	37603186	G	T	DOP1B	c.2104G>T	NM_001320714.1	NP_001307643.1:p.(Ala702Ser)	NC_000021.8:g.37603186G>T	(Likely) benign	1 lab	47f577e8fb
22:37452457 KCTD17 G>A	22	37452457	37452457	G	A	KCTD17	c.411+6G>A	NM_001282684.1	NP_001269613.1:p.?	NC_000022.10:g.37452457G>A	(Likely) benign	1 lab	47f5e10a5d
5:90049535 ADGRV1 A>G	5	90049535	90049535	A	G	ADGRV1	c.11266A>G	NM_032119.4	NP_115495.3:p.(Ile3756Val)	NC_000005.9:g.90049535A>G	VUS	1 lab	47f69b4e65
5:126676262 MEGF10 A>G	5	126676262	126676262	A	G	MEGF10	c.259A>G	NM_032446.2	NP_115822.1:p.(Met87Val)	NC_000005.9:g.126676262A>G	VUS	1 lab	47f6ad6d9b
1:216074214 USH2A G>A	1	216074214	216074214	G	A	USH2A	c.7334C>T	NM_206933.2	NP_996816.2:p.(Ser2445Phe)	NC_000001.10:g.216074214G>A	VUS	1 lab	47f7a16585
3:2908507 CNTN4 A>G	3	2908507	2908507	A	G	CNTN4	c.526A>G	NM_001206955.1	NP_001193884.1:p.(Thr176Ala)	NC_000003.11:g.2908507A>G	(Likely) benign	1 lab	47f8217264
7:100031165 MEPCE C>T	7	100031165	100031165	C	T	MEPCE	c.2058C>T	NM_019606.6	NP_062552.2:p.(Ser686=)	NC_000007.13:g.100031165C>T	(Likely) benign	1 lab	47f90f42db
X:30326447 NR0B1 G>T	X	30326447	30326447	G	T	NR0B1	c.1034C>A	NM_000475.4	NP_000466.2:p.(Pro345Gln)	NC_000023.10:g.30326447G>T	(Likely) benign	1 lab	47fa128bdb
4:104070468 CENPE T>C	4	104070468	104070468	T	C	CENPE	c.3494A>G	NM_001813.2	NP_001804.2:p.(Asn1165Ser)	NC_000004.11:g.104070468T>C	VUS	1 lab	47fa75f394
22:37319425 CSF2RB G>T	22	37319425	37319425	G	T	CSF2RB	c.200+16G>T	NM_000395.3	NP_000386.1:p.?	NC_000022.10:g.37319425G>T	(Likely) benign	1 lab	ee806d8c7e
18:7010328 LAMA1 G>A	18	7010328	7010328	G	A	LAMA1	c.3744C>T	NM_005559.3	NP_005550.2:p.(Gly1248=)	NC_000018.9:g.7010328G>A	(Likely) benign	1 lab	47fb280ef7
17:29496968 NF1 T>TA	17	29496968	29496969	T	TA	NF1	c.540dup	NM_000267.3	NP_000258.1:p.(Gln181ThrfsTer20)	NC_000017.10:g.29496969dup	(Likely) pathogenic	1 lab	47fb58bffc
3:184049779 EIF4G1 C>T	3	184049779	184049779	C	T	EIF4G1	c.4526C>T	NM_182917.4	NP_886553.3:p.(Ala1509Val)	NC_000003.11:g.184049779C>T	VUS	1 lab	47fcec115e
X:148627360 EOLA1 G>A	X	148627360	148627360	G	A	EOLA1	c.184G>A	NM_001324276.1	NP_001311205.1:p.(Gly62Arg)	NC_000023.10:g.148627360G>A	VUS	1 lab	47fd55e6b9
11:66589136 TOP6BL T>C	11	66589136	66589136	T	C	TOP6BL	c.1359T>C	NM_024650.3	NP_078926.3:p.(Thr453=)	NC_000011.9:g.66589136T>C	(Likely) benign	1 lab	47ff2125c4
12:52886513 KRT6A G>C	12	52886513	52886513	G	C	KRT6A	c.460C>G	NM_005554.4	NP_005545.1:p.(Pro154Ala)	NC_000012.11:g.52886513G>C	(Likely) benign	1 lab	47ff24838f
2:32740621 BIRC6 A>G	2	32740621	32740621	A	G	BIRC6	c.11133A>G	NM_016252.3	NP_057336.3:p.(Leu3711=)	NC_000002.11:g.32740621A>G	(Likely) benign	1 lab	47ffb0228f
1:11861417 MTHFR G>A	1	11861417	11861417	G	A	MTHFR	c.399C>T	NM_001330358.1	NP_001317287.1:p.(Asp133=)	NC_000001.10:g.11861417G>A	(Likely) benign	1 lab	48056141a5
3:48508774 TREX1 G>C	3	48508774	48508774	G	C	TREX1	c.720G>C	NM_033629.6	NP_338599.1:p.(Arg240Ser)	NC_000003.11:g.48508774G>C	(Likely) benign	1 lab	48056b272c
18:67727079 RTTN C>T	18	67727079	67727079	C	T	RTTN	c.4940+7G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67727079C>T	(Likely) benign	1 lab	4805f87e87
19:3620226 CACTIN G>A	19	3620226	3620226	G	A	CACTIN	c.783C>T	NM_001080543.2	NP_001074012.1:p.(Arg261=)	NC_000019.9:g.3620226G>A	(Likely) benign	1 lab	4807db04c3
1:39905015 MACF1 A>C	1	39905015	39905015	A	C	MACF1	c.12113A>C	NM_012090.5	NP_036222.3:p.(Glu4038Ala)	NC_000001.10:g.39905015A>C	VUS	1 lab	ee8076e6cb
20:8689332 PLCB1 A>G	20	8689332	8689332	A	G	PLCB1	c.1183A>G	NM_182734.2	NP_877398.1:p.(Ile395Val)	NC_000020.10:g.8689332A>G	VUS	1 lab	480e8e6547
2:228243902 TM4SF20 A>G	2	228243902	228243902	A	G	TM4SF20	c.83T>C	NM_024795.4	NP_079071.2:p.(Ile28Thr)	NC_000002.11:g.228243902A>G	(Likely) benign	1 lab	480ee86b2f
8:144997577 PLEC C>T	8	144997577	144997577	C	T	PLEC	c.6931G>A	NM_201380.3	NP_958782.1:p.(Ala2311Thr)	NC_000008.10:g.144997577C>T	(Likely) benign	1 lab	480fdc4cc7
2:31805882 SRD5A2 GCTTCGCGA>G	2	31805882	31805891	GCTTCGCGA	G	SRD5A2	c.80_88del	NM_000348.4	NP_000339.2:p.(Val27_Pro30delinsAla)	NC_000002.11:g.31805884_31805891del	(Likely) pathogenic	1 lab	481022e469
17:29556992 NF1 G>C	17	29556992	29556992	G	C	NF1	c.2990G>C	NM_000267.3	NP_000258.1:p.(Arg997Thr)	NC_000017.10:g.29556992G>C	VUS	1 lab	4812fc6ca8
3:38927695 SCN11A G>A	3	38927695	38927695	G	A	SCN11A	c.2870C>T	NM_014139.2	NP_054858.2:p.(Thr957Met)	NC_000003.11:g.38927695G>A	(Likely) benign	1 lab	481335aabc
2:219506832 ZNF142 C>A	2	219506832	219506832	C	A	ZNF142	c.4407G>T	NM_001105537.4	NP_001099007.1:p.(Trp1469Cys)	NC_000002.11:g.219506832C>A	VUS	1 lab	ee80dee1fd
1:19524533 UBR4 T>G	1	19524533	19524533	T	G	UBR4	c.659A>C	NM_020765.2	NP_065816.2:p.(Glu220Ala)	NC_000001.10:g.19524533T>G	VUS	1 lab	4815238033
17:48628121 SPATA20 A>G	17	48628121	48628121	A	G	SPATA20	c.1046A>G	NM_001258373.1	NP_001245302.1:p.(Gln349Arg)	NC_000017.10:g.48628121A>G	(Likely) benign	1 lab	4817490576
6:30691699 TUBB C>G	6	30691699	30691699	C	G	TUBB	c.860C>G	NM_178014.3	NP_821133.1:p.(Pro287Arg)	NC_000006.11:g.30691699C>G	VUS	1 lab	4817d78a2d
2:9658262 ADAM17 C>G	2	9658262	9658262	C	G	ADAM17	c.1072G>C	NM_003183.6	NP_003174.3:p.(Ala358Pro)	NC_000002.11:g.9658262C>G	VUS	1 lab	4818476800
11:88924580 TYR C>A	11	88924580	88924580	C	A	TYR	c.1030C>A	NM_000372.4	NP_000363.1:p.(Leu344Met)	NC_000011.9:g.88924580C>A	VUS	1 lab	4830d8c069
2:121729636 GLI2 G>A	2	121729636	121729636	G	A	GLI2	c.1179G>A	NM_005270.4	NP_005261.2:p.(Thr393=)	NC_000002.11:g.121729636G>A	(Likely) benign	1 lab	48186a9508
11:95826452 MAML2 G>C	11	95826452	95826452	G	C	MAML2	c.743C>G	NM_032427.4	NP_115803.1:p.(Ser248Cys)	NC_000011.9:g.95826452G>C	(Likely) benign	1 lab	4818b10d8c
22:46773018 CELSR1 G>A	22	46773018	46773018	G	A	CELSR1	c.7524C>T	NM_014246.1	NP_055061.1:p.(Ala2508=)	NC_000022.10:g.46773018G>A	(Likely) benign	1 lab	4818f053c3
17:18064645 MYO15A G>A	17	18064645	18064645	G	A	MYO15A	c.9401G>A	NM_016239.3	NP_057323.3:p.(Arg3134Gln)	NC_000017.10:g.18064645G>A	VUS	1 lab	4819541f2f
17:39925864 JUP C>T	17	39925864	39925864	C	T	JUP	c.274G>A	NM_002230.4	NP_002221.1:p.(Gly92Ser)	NC_000017.10:g.39925864C>T	VUS	1 lab	ee87b2919b
22:28194276 MN1 G>A	22	28194276	28194276	G	A	MN1	c.2256C>T	NM_002430.2	NP_002421.3:p.(Gly752=)	NC_000022.10:g.28194276G>A	(Likely) benign	1 lab	481bea41a7
3:33618720 MISSING T>C	3	33618720	33618720	T	C	MISSING				NC_000003.11:g.33618720T>C	VUS	1 lab	481bfd2908
X:76855053 ATRX A>AAAAC	X	76855053	76855076	A	AAAAC	ATRX	c.5787-8_5787-5dup	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76855073_76855076dup	(Likely) benign	1 lab	481f4e72d9
20:33584261 MYH7B CCG>C	20	33584261	33584263	CCG	C	MYH7B	c.3057_3058del	NM_020884.7	NP_065935.4:p.(Glu1020GlyfsTer45)	NC_000020.10:g.33584262_33584263del	VUS	1 lab	481fbc7144
1:197398679 CRB1 A>G	1	197398679	197398679	A	G	CRB1	c.2705A>G	NM_001257965.1	NP_001244894.1:p.(Gln902Arg)	NC_000001.10:g.197398679A>G	VUS	1 lab	48207bf74e
2:170090014 LRP2 T>C	2	170090014	170090014	T	C	LRP2	c.5005A>G	NM_004525.3	NP_004516.2:p.(Asn1669Asp)	NC_000002.11:g.170090014T>C	VUS	1 lab	4822ff4651
15:85341891 ZNF592 C>T	15	85341891	85341891	C	T	ZNF592	c.2809C>T	NM_014630.2	NP_055445.2:p.(Arg937Cys)	NC_000015.9:g.85341891C>T	VUS	1 lab	48238d074c
2:189861923 COL3A1 C>T	2	189861923	189861923	C	T	COL3A1	c.1794C>T	NM_000090.3	NP_000081.1:p.(Gly598=)	NC_000002.11:g.189861923C>T	(Likely) benign	1 lab	48239ccf89
19:9057981 MUC16 G>A	19	9057981	9057981	G	A	MUC16	c.29465C>T	NM_024690.2	NP_078966.2:p.(Ser9822Phe)	NC_000019.9:g.9057981G>A	VUS	1 lab	48248259ef
6:138576873 ARFGEF3 G>C	6	138576873	138576873	G	C	ARFGEF3	c.1071G>C	NM_020340.5	NP_065073.3:p.(Gln357His)	NC_000006.11:g.138576873G>C	(Likely) pathogenic	1 lab	48258b8239
19:55670667 DNAAF3 G>T	19	55670667	55670667	G	T	DNAAF3	c.1227C>A	NM_001256716.1	NP_001243645.1:p.(Gly409=)	NC_000019.9:g.55670667G>T	(Likely) benign	1 lab	4829458785
15:90213458 PLIN1 CTTCAGCTCAGAAGCAA>C	15	90213458	90213475	CTTCAGCTCAGAAGCAA	C	PLIN1	c.335_350del	NM_002666.5	NP_002657.3:p.(Ile112ArgfsTer103)	NC_000015.9:g.90213460_90213475del	VUS	1 lab	482f977de2
8:10466994 RP1L1 C>T	8	10466994	10466994	C	T	RP1L1	c.4614G>A	NM_178857.5	NP_849188.4:p.(Val1538=)	NC_000008.10:g.10466994C>T	(Likely) benign	1 lab	482fc8f32a
16:85945186 IRF8 C>T	16	85945186	85945186	C	T	IRF8	c.369C>T	NM_002163.2	NP_002154.1:p.(Gly123=)	NC_000016.9:g.85945186C>T	VUS	1 lab	4831a021b6
1:234744608 IRF2BP2 G>A	1	234744608	234744608	G	A	IRF2BP2	c.633C>T	NM_182972.2	NP_892017.2:p.(Ala211=)	NC_000001.10:g.234744608G>A	(Likely) benign	1 lab	4834a14b5a
20:62655974 PRPF6 C>T	20	62655974	62655974	C	T	PRPF6	c.1836C>T	NM_012469.3	NP_036601.2:p.(Leu612=)	NC_000020.10:g.62655974C>T	(Likely) benign	1 lab	4834eafe42
15:75500605 C15orf39 G>T	15	75500605	75500605	G	T	C15orf39	c.2216G>T	NM_015492.5	NP_056307.3:p.(Arg739Leu)	NC_000015.9:g.75500605G>T	(Likely) benign	1 lab	4835b363c6
16:28944760 CD19 C>T	16	28944760	28944760	C	T	CD19	c.765C>T	NM_001178098.1	NP_001171569.1:p.(Asp255=)	NC_000016.9:g.28944760C>T	(Likely) benign	1 lab	483a759618
6:170175417 ERMARD G>A	6	170175417	170175417	G	A	ERMARD	c.1369G>A	NM_018341.2	NP_060811.1:p.(Glu457Lys)	NC_000006.11:g.170175417G>A	(Likely) benign	1 lab	483b228144
12:49422934 KMT2D G>A	12	49422934	49422934	G	A	KMT2D	c.14161C>T	NM_003482.3	NP_003473.3:p.(Arg4721Cys)	NC_000012.11:g.49422934G>A	VUS	1 lab	483bbe28fd
12:49430989 KMT2D T>A	12	49430989	49430989	T	A	KMT2D	c.10150A>T	NM_003482.3	NP_003473.3:p.(Thr3384Ser)	NC_000012.11:g.49430989T>A	(Likely) benign	1 lab	483e58a707
X:2828713 ARSD G>A	X	2828713	2828713	G	A	ARSD	c.1122C>T	NM_001669.3	NP_001660.2:p.(Asn374=)	NC_000023.10:g.2828713G>A	(Likely) benign	1 lab	483edef84b
12:88483272 CEP290 TA>T	12	88483272	88483280	TA	T	CEP290	c.3574-9del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88483280del	(Likely) benign	1 lab	483fd70375
7:92000834 ANKIB1 C>T	7	92000834	92000834	C	T	ANKIB1	c.1530C>T	NM_019004.2	NP_061877.1:p.(Leu510=)	NC_000007.13:g.92000834C>T	(Likely) benign	1 lab	483ff27d1a
1:151397533 POGZ G>A	1	151397533	151397533	G	A	POGZ	c.1083C>T	NM_015100.3	NP_055915.2:p.(Thr361=)	NC_000001.10:g.151397533G>A	(Likely) benign	1 lab	48402b123c
2:96949328 SNRNP200 G>A	2	96949328	96949328	G	A	SNRNP200	c.4708C>T	NM_014014.4	NP_054733.2:p.(Arg1570Cys)	NC_000002.11:g.96949328G>A	VUS	1 lab	4842e65c86
13:25484101 CPAP G>A	13	25484101	25484101	G	A	CPAP	c.692C>T	NM_018451.4	NP_060921.3:p.(Thr231Ile)	NC_000013.10:g.25484101G>A	VUS	1 lab	48499b09aa
1:243727168 AKT3 T>C	1	243727168	243727168	T	C	AKT3				NC_000001.10:g.243727168T>C	(Likely) benign	1 lab	484afe96e6
14:45478228 TOGARAM1 C>T	14	45478228	45478228	C	T	TOGARAM1	c.3017C>T	NM_001308120.2	NP_001295049.1:p.(Thr1006Met)	NC_000014.8:g.45478228C>T	(Likely) benign	1 lab	484bcd99d5
19:7695505 PET100 A>G	19	7695505	7695505	A	G	PET100	c.74A>G	NM_001171155.1	NP_001164626.1:p.(Asn25Ser)	NC_000019.9:g.7695505A>G	VUS	1 lab	484cac9963
13:25458485 CPAP C>G	13	25458485	25458485	C	G	CPAP	c.3594G>C	NM_018451.4	NP_060921.3:p.(Lys1198Asn)	NC_000013.10:g.25458485C>G	VUS	1 lab	484d62afeb
7:70255246 AUTS2 A>G	7	70255246	70255246	A	G	AUTS2				NC_000007.13:g.70255246A>G	VUS	1 lab	4a039bc2d9
5:61676975 KIF2A G>A	5	61676975	61676975	G	A	KIF2A	c.2044G>A	NM_001098511.2	NP_001091981.1:p.(Ala682Thr)	NC_000005.9:g.61676975G>A	(Likely) benign	1 lab	484fb69d87
6:133836480 EYA4 G>A	6	133836480	133836480	G	A	EYA4	c.1523G>A	NM_004100.4	NP_004091.3:p.(Arg508Lys)	NC_000006.11:g.133836480G>A	VUS	1 lab	4854272d67
2:71190378 ATP6V1B1 G>A	2	71190378	71190378	G	A	ATP6V1B1	c.996G>A	NM_001692.4	NP_001683.2:p.(Ala332=)	NC_000002.11:g.71190378G>A	(Likely) benign	1 lab	4854693285
12:130926745 RIMBP2 G>A	12	130926745	130926745	G	A	RIMBP2	c.1152C>T	NM_001351230.1	NP_001338159.1:p.(Ser384=)	NC_000012.11:g.130926745G>A	(Likely) benign	1 lab	485530edf6
16:2152577 PKD1 C>T	16	2152577	2152577	C	T	PKD1	c.9006G>A	NM_001009944.2	NP_001009944.2:p.(Ser3002=)	NC_000016.9:g.2152577C>T	VUS	1 lab	4856c68149
X:12734378 FRMPD4 C>T	X	12734378	12734378	C	T	FRMPD4	c.1800C>T	NM_014728.3	NP_055543.2:p.(Ala600=)	NC_000023.10:g.12734378C>T	(Likely) benign	1 lab	48571e9dab
15:44914444 SPG11 T>C	15	44914444	44914444	T	C	SPG11	c.2418A>G	NM_025137.3	NP_079413.3:p.(Glu806=)	NC_000015.9:g.44914444T>C	(Likely) benign	1 lab	48581145f4
X:110925485 ALG13 A>C	X	110925485	110925485	A	C	ALG13	c.207A>C	NM_001099922.2	NP_001093392.1:p.(Glu69Asp)	NC_000023.10:g.110925485A>C	(Likely) benign	1 lab	4859087ae6
2:233321380 ALPI G>A	2	233321380	233321380	G	A	ALPI	c.275G>A	NM_001631.5	NP_001622.2:p.(Arg92His)	NC_000002.11:g.233321380G>A	(Likely) benign	1 lab	485959c5c8
6:146351097 GRM1 C>G	6	146351097	146351097	C	G	GRM1	c.444C>G	NM_001278065.1	NP_001264994.1:p.(Pro148=)	NC_000006.11:g.146351097C>G	(Likely) benign	1 lab	485caf7ee8
21:44840302 SIK1 C>T	21	44840302	44840302	C	T	SIK1	c.784G>A	NM_173354.4	NP_775490.2:p.(Asp262Asn)	NC_000021.8:g.44840302C>T	VUS	1 lab	485d123b9d
2:219527288 BCS1L T>A	2	219527288	219527288	T	A	BCS1L	c.775T>A	NM_004328.4	NP_004319.1:p.(Ser259Thr)	NC_000002.11:g.219527288T>A	VUS	1 lab	485d3633f5
16:89703638 DPEP1 G>A	16	89703638	89703638	G	A	DPEP1	c.618G>A	NM_004413.3	NP_004404.1:p.(Leu206=)	NC_000016.9:g.89703638G>A	(Likely) benign	1 lab	485fc97454
14:21991580 SALL2 T>C	14	21991580	21991580	T	C	SALL2	c.2282A>G	NM_005407.2	NP_005398.2:p.(Glu761Gly)	NC_000014.8:g.21991580T>C	(Likely) benign	1 lab	485fcfd4f7
9:71866027 TJP2 C>T	9	71866027	71866027	C	T	TJP2	c.3068C>T	NM_004817.4	NP_004808.2:p.(Ala1023Val)	NC_000009.11:g.71866027C>T	VUS	1 lab	48602b50f2
7:5662563 RNF216 G>A	7	5662563	5662563	G	A	RNF216	c.2700C>T	NM_207111.3	NP_996994.1:p.(Phe900=)	NC_000007.13:g.5662563G>A	(Likely) benign	1 lab	48608d4ce7
4:88536361 DSPP C>T	4	88536361	88536361	C	T	DSPP	c.2547C>T	NM_014208.3	NP_055023.2:p.(Asp849=)	NC_000004.11:g.88536361C>T	(Likely) benign	1 lab	4861339031
4:1222011 CTBP1 C>T	4	1222011	1222011	C	T	CTBP1	c.316G>A	NM_001328.3	NP_001319.1:p.(Asp106Asn)	NC_000004.11:g.1222011C>T	VUS	1 lab	ee898c8054
2:179498153 TTN A>G	2	179498153	179498153	A	G	TTN	c.42933T>C	NM_001267550.1	NP_001254479.1:p.(Asn14311=)	NC_000002.11:g.179498153A>G	(Likely) benign	1 lab	48660e4802
7:100228664 TFR2 C>T	7	100228664	100228664	C	T	TFR2	c.1118G>A	NM_003227.3	NP_003218.2:p.(Gly373Asp)	NC_000007.13:g.100228664C>T	VUS	1 lab	4866d3faea
10:72358007 PRF1 G>A	10	72358007	72358007	G	A	PRF1	c.1470C>T	NM_001083116.1	NP_001076585.1:p.(Asp490=)	NC_000010.10:g.72358007G>A	(Likely) benign	1 lab	4868d356f1
15:85399702 ALPK3 C>T	15	85399702	85399702	C	T	ALPK3	c.1733C>T	NM_020778.5	NP_065829.4:p.(Thr578Ile)	NC_000015.9:g.85399702C>T	VUS	1 lab	ee9084194d
2:219563671 STK36 A>C	2	219563671	219563671	A	C	STK36	c.3404A>C	NM_015690.4	NP_056505.2:p.(His1135Pro)	NC_000002.11:g.219563671A>C	VUS	1 lab	4869d7bc43
11:65305634 SCYL1 C>G	11	65305634	65305634	C	G	SCYL1	c.2228C>G	NM_020680.3	NP_065731.3:p.(Ser743Cys)	NC_000011.9:g.65305634C>G	(Likely) benign	1 lab	486b65aa56
9:98220360 PTCH1 C>G	9	98220360	98220360	C	G	PTCH1	c.2905G>C	NM_001083602.1	NP_001077071.1:p.(Val969Leu)	NC_000009.11:g.98220360C>G	(Likely) benign	1 lab	486c45f6f1
3:19977781 EFHB G>T	3	19977781	19977781	G	T	EFHB	c.15C>A	NM_001330688.1	NP_001317617.1:p.(Cys5Ter)	NC_000003.11:g.19977781G>T	VUS	1 lab	486c9f6033
21:35821827 KCNE1 G>A	21	35821827	35821827	G	A	KCNE1				NC_000021.8:g.35821827G>A	VUS	1 lab	4d7eae9e08
3:134277112 CEP63 G>A	3	134277112	134277112	G	A	CEP63	c.1596G>A	NM_025180.4	NP_079456.2:p.(Gln532=)	NC_000003.11:g.134277112G>A	(Likely) benign	1 lab	486dc95f00
17:6364753 PITPNM3 A>G	17	6364753	6364753	A	G	PITPNM3	c.2430T>C	NM_031220.4	NP_112497.2:p.(Asp810=)	NC_000017.10:g.6364753A>G	(Likely) benign	1 lab	ee95b2ff53
X:27998822 DCAF8L1 T>C	X	27998822	27998822	T	C	DCAF8L1	c.630A>G	NM_001017930.1	NP_001017930.1:p.(Arg210=)	NC_000023.10:g.27998822T>C	(Likely) benign	1 lab	4870719970
10:50678317 ERCC6 C>G	10	50678317	50678317	C	G	ERCC6	c.3689G>C	NM_000124.2	NP_000115.1:p.(Arg1230Pro)	NC_000010.10:g.50678317C>G	(Likely) benign	1 lab	48716a252f
3:38639401 SCN5A T>C	3	38639401	38639401	T	C	SCN5A	c.2081A>G	NM_001099404.1	NP_001092874.1:p.(Tyr694Cys)	NC_000003.11:g.38639401T>C	VUS	1 lab	48726e9929
1:151538661 TUFT1 G>A	1	151538661	151538661	G	A	TUFT1	c.494G>A	NM_001301317.1	NP_001288246.1:p.(Gly165Asp)	NC_000001.10:g.151538661G>A	(Likely) benign	1 lab	4873f37e7c
11:72537852 ATG16L2 C>A	11	72537852	72537852	C	A	ATG16L2	c.1032C>A	NM_001318766.1	NP_001305695.1:p.(Asp344Glu)	NC_000011.9:g.72537852C>A	VUS	1 lab	4875a4bbae
13:103298654 TPP2 G>A	13	103298654	103298654	G	A	TPP2	c.2404G>A	NM_001367947.1	NP_001354876.1:p.(Ala802Thr)	NC_000013.10:g.103298654G>A	VUS	1 lab	48772a8861
9:126132707 CRB2 CT>C	9	126132707	126132708	CT	C	CRB2	c.1376del	NM_173689.7	NP_775960.4:p.(Leu459ArgfsTer5)	NC_000009.11:g.126132708del	(Likely) pathogenic	1 lab	4878829068
4:88536934 DSPP C>T	4	88536934	88536934	C	T	DSPP	c.3120C>T	NM_014208.3	NP_055023.2:p.(Ser1040=)	NC_000004.11:g.88536934C>T	(Likely) benign	1 lab	4878a96cfd
5:82816463 VCAN G>T	5	82816463	82816463	G	T	VCAN	c.2338G>T	NM_004385.4	NP_004376.2:p.(Asp780Tyr)	NC_000005.9:g.82816463G>T	VUS	1 lab	4879469132
1:202465930 PPP1R12B G>A	1	202465930	202465930	G	A	PPP1R12B	c.2653G>A	NM_001331029.1	NP_001317958.1:p.(Glu885Lys)	NC_000001.10:g.202465930G>A	VUS	1 lab	48797ce83f
X:103349445 SLC25A53 G>A	X	103349445	103349445	G	A	SLC25A53	c.496C>T	NM_001012755.5	NP_001012773.2:p.(Leu166Phe)	NC_000023.10:g.103349445G>A	(Likely) benign	1 lab	487a994cc2
17:18055271 MYO15A G>T	17	18055271	18055271	G	T	MYO15A	c.7893+6G>T	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18055271G>T	(Likely) benign	1 lab	487cee345f
14:51190308 NIN G>A	14	51190308	51190308	G	A	NIN	c.6275C>T	NM_020921.3	NP_065972.3:p.(Thr2092Ile)	NC_000014.8:g.51190308G>A	VUS	1 lab	487f947f3a
7:17378998 AHR C>T	7	17378998	17378998	C	T	AHR	c.1549C>T	NM_001621.5	NP_001612.1:p.(Pro517Ser)	NC_000007.13:g.17378998C>T	(Likely) benign	1 lab	4880d074dc
1:247587259 NLRP3 C>T	1	247587259	247587259	C	T	NLRP3	c.508C>T	NM_001243133.1	NP_001230062.1:p.(Arg170Cys)	NC_000001.10:g.247587259C>T	VUS	1 lab	48810ca027
3:119120885 ARHGAP31 C>T	3	119120885	119120885	C	T	ARHGAP31	c.1286C>T	NM_020754.4	NP_065805.2:p.(Pro429Leu)	NC_000003.11:g.119120885C>T	(Likely) benign	1 lab	ee9d645a24
5:127645761 FBN2 G>A	5	127645761	127645761	G	A	FBN2	c.5114C>T	NM_001999.3	NP_001990.2:p.(Pro1705Leu)	NC_000005.9:g.127645761G>A	VUS	1 lab	4881ee01d8
X:107977317 IRS4 G>C	X	107977317	107977317	G	C	IRS4	c.2258C>G	NM_003604.2	NP_003595.1:p.(Pro753Arg)	NC_000023.10:g.107977317G>C	VUS	1 lab	488385909c
8:1904906 ARHGEF10 C>T	8	1904906	1904906	C	T	ARHGEF10	c.3593-9C>T	NM_001308153.1	NP_001295082.1:p.?	NC_000008.10:g.1904906C>T	(Likely) benign	1 lab	48850ff248
11:76922945 MYO7A A>C	11	76922945	76922945	A	C	MYO7A	c.6317A>C	NM_000260.3	NP_000251.3:p.(Lys2106Thr)	NC_000011.9:g.76922945A>C	VUS	1 lab	488542bec2
19:33263696 TDRD12 T>A	19	33263696	33263696	T	A	TDRD12	c.903T>A	NM_001110822.1	NP_001104292.1:p.(Asp301Glu)	NC_000019.9:g.33263696T>A	(Likely) benign	1 lab	4886dfb747
5:112111138 APC C>CT	5	112111138	112111139	C	CT	APC	c.423-187dup	NM_000038.4	NP_000029.2:p.?	NC_000005.9:g.112111139dup	(Likely) benign	1 lab	48884be317
16:16139851 ABCC1 T>C	16	16139851	16139851	T	C	ABCC1	c.1199T>C	NM_004996.3	NP_004987.2:p.(Ile400Thr)	NC_000016.9:g.16139851T>C	VUS	1 lab	4888ec1cd1
X:100626613 BTK T>C	X	100626613	100626613	T	C	BTK	c.411+8A>G	NM_001287344.1	NP_001274273.1:p.?	NC_000023.10:g.100626613T>C	(Likely) benign	1 lab	4889d48958
7:1478579 MICALL2 G>A	7	1478579	1478579	G	A	MICALL2	c.2019C>T	NM_182924.4	NP_891554.1:p.(Leu673=)	NC_000007.13:g.1478579G>A	(Likely) benign	1 lab	4889f83c4e
1:220355605 RAB3GAP2 C>T	1	220355605	220355605	C	T	RAB3GAP2	c.2304G>A	NM_012414.3	NP_036546.2:p.(Leu768=)	NC_000001.10:g.220355605C>T	(Likely) benign	1 lab	488d0f744c
17:60040275 MED13 C>T	17	60040275	60040275	C	T	MED13	c.4902G>A	NM_005121.2	NP_005112.2:p.(Thr1634=)	NC_000017.10:g.60040275C>T	(Likely) benign	1 lab	488d3b5635
X:47485904 CFP C>T	X	47485904	47485904	C	T	CFP	c.955G>A	NM_002621.2	NP_002612.1:p.(Asp319Asn)	NC_000023.10:g.47485904C>T	(Likely) benign	1 lab	488eee9f0a
1:11217322 MTOR T>A	1	11217322	11217322	T	A	MTOR	c.4356A>T	NM_004958.3	NP_004949.1:p.(Lys1452Asn)	NC_000001.10:g.11217322T>A	(Likely) pathogenic	1 lab	48927fd136
22:50726150 PLXNB2 G>A	22	50726150	50726150	G	A	PLXNB2	c.1554C>T	NM_012401.4	NP_036533.2:p.(Cys518=)	NC_000022.10:g.50726150G>A	(Likely) benign	1 lab	4893653fb3
21:45712244 AIRE C>A	21	45712244	45712244	C	A	AIRE				NC_000021.8:g.45712244C>A	(Likely) benign	1 lab	48942cdb60
1:196879415 CFHR4 GA>G	1	196879415	196879418	GA	G	CFHR4	c.807del	NM_001201550.3	NP_001188479.1:p.(Lys269AsnfsTer25)	NC_000001.10:g.196879418del	(Likely) pathogenic	1 lab	4894e74c99
9:140611616 EHMT1 G>A	9	140611616	140611616	G	A	EHMT1	c.624G>A	NM_024757.4	NP_079033.4:p.(Pro208=)	NC_000009.11:g.140611616G>A	(Likely) benign	1 lab	48969a88e0
10:73121735 SLC29A3 G>A	10	73121735	73121735	G	A	SLC29A3	c.564G>A	NM_001363518.1	NP_001350447.1:p.(Ala188=)	NC_000010.10:g.73121735G>A	(Likely) benign	1 lab	4896d098b0
9:13158062 MPDZ C>T	9	13158062	13158062	C	T	MPDZ	c.3407G>A	NM_001330637.1	NP_001317566.1:p.(Ser1136Asn)	NC_000009.11:g.13158062C>T	VUS	1 lab	489754699a
11:67815372 TCIRG1 C>T	11	67815372	67815372	C	T	TCIRG1	c.593C>T	NM_001351059.1	NP_001337988.1:p.(Thr198Met)	NC_000011.9:g.67815372C>T	(Likely) benign	1 lab	4899293465
17:1633757 WDR81 C>T	17	1633757	1633757	C	T	WDR81	c.3751C>T	NM_001163809.2	NP_001157281.1:p.(Arg1251Cys)	NC_000017.10:g.1633757C>T	VUS	1 lab	ee9ef71264
11:1016953 MUC6 G>C	11	1016953	1016953	G	C	MUC6	c.5848C>G	NM_005961.2	NP_005952.2:p.(Pro1950Ala)	NC_000011.9:g.1016953G>C	(Likely) benign	1 lab	489a083f78
2:179456107 TTN A>G	2	179456107	179456107	A	G	TTN	c.60345T>C	NM_001267550.2	NP_001254479.2:p.(Asp20115=)	NC_000002.11:g.179456107A>G	(Likely) benign	1 lab	eea0c677af
X:153940641 GAB3 C>T	X	153940641	153940641	C	T	GAB3	c.932G>A	NM_001081573.2	NP_001075042.1:p.(Arg311His)	NC_000023.10:g.153940641C>T	VUS	1 lab	489a5349bd
14:23314993 MMP14 C>A	14	23314993	23314993	C	A	MMP14	c.1494C>A	NM_004995.3	NP_004986.1:p.(Pro498=)	NC_000014.8:g.23314993C>A	(Likely) benign	1 lab	489bcba8fa
2:179484781 TTN C>T	2	179484781	179484781	C	T	TTN	c.46363G>A	NM_001267550.1	NP_001254479.1:p.(Asp15455Asn)	NC_000002.11:g.179484781C>T	VUS	1 lab	489cddaf0e
11:17594616 OTOG C>T	11	17594616	17594616	C	T	OTOG	c.2117-9C>T	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17594616C>T	(Likely) benign	1 lab	489d5c2dcb
2:29293758 PCARE A>G	2	29293758	29293758	A	G	PCARE	c.3370T>C	NM_001029883.2	NP_001025054.1:p.(Cys1124Arg)	NC_000002.11:g.29293758A>G	VUS	1 lab	489e5c4255
15:78572442 DNAJA4 C>T	15	78572442	78572442	C	T	DNAJA4	c.1020C>T	NM_018602.3	NP_061072.3:p.(Ile340=)	NC_000015.9:g.78572442C>T	(Likely) benign	1 lab	48a089d402
6:112469566 LAMA4 T>G	6	112469566	112469566	T	G	LAMA4	c.2174-28A>C	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112469566T>G	(Likely) benign	1 lab	48a269647e
11:22279224 ANO5 A>C	11	22279224	22279224	A	C	ANO5	c.1333-2A>C	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22279224A>C	(Likely) pathogenic	1 lab	48a2efed31
16:75238144 CTRB2 C>T	16	75238144	75238144	C	T	CTRB2	c.707G>A	NM_001025200.4	NP_001020371.3:p.(Arg236His)	NC_000016.9:g.75238144C>T	(Likely) benign	1 lab	48a3130625
X:47836382 ZNF182 A>G	X	47836382	47836382	A	G	ZNF182	c.1104T>C	NM_001178099.1	NP_001171570.1:p.(His368=)	NC_000023.10:g.47836382A>G	(Likely) benign	1 lab	48a5ac97df
9:135786839 TSC1 C>T	9	135786839	135786839	C	T	TSC1	c.1029+1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786839C>T	(Likely) pathogenic	1 lab	48a6d0c801
12:53162772 KRT76 C>CGCTGCT	12	53162772	53162773	C	CGCTGCT	KRT76	c.1641_1642insAGCAGC	NM_015848.4	NP_056932.2:p.(Ser546_Ser547dup)	NC_000012.11:g.53162772_53162773insGCTGCT	VUS	1 lab	48a7bdcc9c
14:77769194 POMT2 T>G	14	77769194	77769194	T	G	POMT2	c.640A>C	NM_013382.5	NP_037514.2:p.(Asn214His)	NC_000014.8:g.77769194T>G	(Likely) benign	1 lab	48c5e8542e
1:7723837 CAMTA1 C>T	1	7723837	7723837	C	T	CAMTA1	c.1230C>T	NM_015215.3	NP_056030.1:p.(Tyr410=)	NC_000001.10:g.7723837C>T	(Likely) benign	1 lab	48a8518831
16:85688050 GSE1 C>T	16	85688050	85688050	C	T	GSE1	c.593C>T	NM_014615.4	NP_055430.1:p.(Pro198Leu)	NC_000016.9:g.85688050C>T	VUS	1 lab	48a8b7bc55
11:17553080 USH1C G>A	11	17553080	17553080	G	A	USH1C	c.114C>T	NM_153676.3	NP_710142.1:p.(Asp38=)	NC_000011.9:g.17553080G>A	(Likely) benign	1 lab	48a947b534
19:1207006 STK11 A>G	19	1207006	1207006	A	G	STK11	c.94A>G	NM_000455.4	NP_000446.1:p.(Thr32Ala)	NC_000019.9:g.1207006A>G	VUS	1 lab	48a9c52374
3:38622417 SCN5A C>A	3	38622417	38622417	C	A	SCN5A	c.3228+5G>T	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38622417C>A	VUS	1 lab	48ad103240
6:144852187 UTRN G>A	6	144852187	144852187	G	A	UTRN	c.5907-1G>A	NM_007124.2	NP_009055.2:p.?	NC_000006.11:g.144852187G>A	VUS	1 lab	48ad6e103b
7:33545173 BBS9 C>T	7	33545173	33545173	C	T	BBS9	c.1941C>T	NM_001348038.2	NP_001334967.1:p.(Ile647=)	NC_000007.13:g.33545173C>T	(Likely) benign	1 lab	48ada7f31f
1:162725473 DDR2 T>C	1	162725473	162725473	T	C	DDR2	c.585T>C	NM_006182.4	NP_006173.2:p.(Asn195=)	NC_000001.10:g.162725473T>C	(Likely) benign	1 lab	48b0a636da
14:100387173 EML1 C>T	14	100387173	100387173	C	T	EML1	c.1925C>T	NM_001008707.1	NP_001008707.1:p.(Thr642Ile)	NC_000014.8:g.100387173C>T	VUS	1 lab	48b30e5f86
11:118895687 SLC37A4 G>A	11	118895687	118895687	G	A	SLC37A4	c.1223C>T	NM_001164277.1	NP_001157749.1:p.(Thr408Met)	NC_000011.9:g.118895687G>A	VUS	1 lab	48b5e41b43
X:152663290 PNMA6E A>C	X	152663290	152663290	A	C	PNMA6E	c.1018T>G	NM_001367770.1	NP_001354699.1:p.(Trp340Gly)	NC_000023.10:g.152663290A>C	VUS	1 lab	48b6c0448e
X:77267107 ATP7A G>A	X	77267107	77267107	G	A	ATP7A	c.2108G>A	NM_000052.6	NP_000043.4:p.(Arg703His)	NC_000023.10:g.77267107G>A	(Likely) benign	1 lab	48b80c0238
X:153588343 FLNA G>A	X	153588343	153588343	G	A	FLNA	c.3805+15C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153588343G>A	(Likely) benign	1 lab	48b9694db2
19:43763022 PSG9 G>A	19	43763022	43763022	G	A	PSG9	c.975C>T	NM_002784.5	NP_002775.3:p.(Ile325=)	NC_000019.9:g.43763022G>A	(Likely) benign	1 lab	48ba3424a5
1:244541772 SPMIP3 G>A	1	244541772	244541772	G	A	SPMIP3	c.156G>A	NM_001012970.2	NP_001012988.1:p.(Pro52=)	NC_000001.10:g.244541772G>A	(Likely) benign	1 lab	48be97b4c0
6:31936451 SKIC2 G>A	6	31936451	31936451	G	A	SKIC2	c.3070-12G>A	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31936451G>A	(Likely) benign	1 lab	eea31ad79e
16:57918132 CNGB1 G>A	16	57918132	57918132	G	A	CNGB1	c.3692C>T	NM_001297.4	NP_001288.3:p.(Pro1231Leu)	NC_000016.9:g.57918132G>A	(Likely) benign	1 lab	48c2b63538
2:220422653 OBSL1 G>A	2	220422653	220422653	G	A	OBSL1	c.3682C>T	NM_015311.2	NP_056126.1:p.(Arg1228Ter)	NC_000002.11:g.220422653G>A	(Likely) pathogenic	1 lab	48c2fd8463
13:25480943 CPAP C>T	13	25480943	25480943	C	T	CPAP	c.1233G>A	NM_018451.4	NP_060921.3:p.(Pro411=)	NC_000013.10:g.25480943C>T	(Likely) benign	1 lab	48c7b7fb3b
X:46713056 RP2 T>C	X	46713056	46713056	T	C	RP2	c.248T>C	NM_006915.2	NP_008846.2:p.(Ile83Thr)	NC_000023.10:g.46713056T>C	VUS	1 lab	48c8151c6e
X:153697804 PLXNA3 C>T	X	153697804	153697804	C	T	PLXNA3	c.4677C>T	NM_017514.4	NP_059984.3:p.(Leu1559=)	NC_000023.10:g.153697804C>T	(Likely) benign	1 lab	48c9a718a9
1:243542152 SDCCAG8 C>T	1	243542152	243542152	C	T	SDCCAG8	c.700C>T	NM_001350251.1	NP_001337180.1:p.(Leu234=)	NC_000001.10:g.243542152C>T	(Likely) benign	1 lab	48c9b9aa26
X:128896732 XPNPEP2 G>A	X	128896732	128896732	G	A	XPNPEP2	c.1726G>A	NM_003399.5	NP_003390.4:p.(Glu576Lys)	NC_000023.10:g.128896732G>A	VUS	1 lab	48ca51d4c5
9:131857840 CRAT C>T	9	131857840	131857840	C	T	CRAT	c.1654G>A	NM_001257363.2	NP_001244292.1:p.(Gly552Ser)	NC_000009.11:g.131857840C>T	VUS	1 lab	48cab39de9
12:122255372 SETD1B G>A	12	122255372	122255372	G	A	SETD1B	c.3074G>A	NM_001353345.2	NP_001340274.1:p.(Arg1025Gln)	NC_000012.11:g.122255372G>A	VUS	1 lab	eea3b935f4
22:29445222 ZNRF3 C>T	22	29445222	29445222	C	T	ZNRF3	c.1053C>T	NM_001206998.1	NP_001193927.1:p.(Thr351=)	NC_000022.10:g.29445222C>T	(Likely) benign	1 lab	48cc8add8b
9:14824919 FREM1 C>A	9	14824919	14824919	C	A	FREM1	c.1953G>T	NM_144966.5	NP_659403.4:p.(Leu651Phe)	NC_000009.11:g.14824919C>A	VUS	1 lab	48cf71023b
6:7579544 DSP C>T	6	7579544	7579544	C	T	DSP	c.3121C>T	NM_004415.2	NP_004406.2:p.(Leu1041Phe)	NC_000006.11:g.7579544C>T	VUS	1 lab	48cf833806
3:183960442 ALG3 C>T	3	183960442	183960442	C	T	ALG3	c.1033G>A	NM_001006941.2	NP_001006942.1:p.(Glu345Lys)	NC_000003.11:g.183960442C>T	VUS	1 lab	48d080a6c4
5:82815956 VCAN A>G	5	82815956	82815956	A	G	VCAN	c.1831A>G	NM_004385.4	NP_004376.2:p.(Met611Val)	NC_000005.9:g.82815956A>G	(Likely) benign	1 lab	48d121fdf7
3:10384533 ATP2B2 G>A	3	10384533	10384533	G	A	ATP2B2	c.2685C>T	NM_001330611.2	NP_001317540.1:p.(Tyr895=)	NC_000003.11:g.10384533G>A	(Likely) benign	1 lab	48d1ed1df6
8:100712143 VPS13B CA>C	8	100712143	100712145	CA	C	VPS13B	c.6439del	NM_152564.5	NP_689777.3:p.(Thr2147HisfsTer7)	NC_000008.10:g.100712145del	(Likely) pathogenic	1 lab	48d287146f
1:36784902 SH3D21 C>G	1	36784902	36784902	C	G	SH3D21	c.905C>G	NM_001162530.2	NP_001156002.1:p.(Ser302Cys)	NC_000001.10:g.36784902C>G	VUS	1 lab	48d39af8e8
5:176637535 NSD1 T>TA	5	176637535	176637537	T	TA	NSD1	c.2137dup	NM_022455.4	NP_071900.2:p.(Met713AsnfsTer5)	NC_000005.9:g.176637537dup	(Likely) pathogenic	1 lab	48d406254b
2:179519154 TTN A>G	2	179519154	179519154	A	G	TTN	c.38296+18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179519154A>G	(Likely) benign	1 lab	eea56b4822
12:23908622 SOX5 C>T	12	23908622	23908622	C	T	SOX5	c.479G>A	NM_152989.5	NP_694534.1:p.(Trp160Ter)	NC_000012.11:g.23908622C>T	(Likely) pathogenic	1 lab	eea95840b1
9:35555339 RUSC2 G>C	9	35555339	35555339	G	C	RUSC2	c.2297G>C	NM_001135999.1	NP_001129471.1:p.(Gly766Ala)	NC_000009.11:g.35555339G>C	(Likely) benign	1 lab	48d68dd983
9:123249742 CDK5RAP2 A>C	9	123249742	123249742	A	C	CDK5RAP2	c.1483-27T>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123249742A>C	(Likely) benign	1 lab	48d76bb6e8
7:117021124 ASZ1 G>A	7	117021124	117021124	G	A	ASZ1	c.889-3C>T	NM_130768.2	NP_570124.1:p.?	NC_000007.13:g.117021124G>A	(Likely) benign	1 lab	48d82288dc
5:150907573 FAT2 G>A	5	150907573	150907573	G	A	FAT2	c.10148C>T	NM_001447.2	NP_001438.1:p.(Ala3383Val)	NC_000005.9:g.150907573G>A	(Likely) benign	1 lab	48d8380af7
4:15985885 PROM1 C>T	4	15985885	15985885	C	T	PROM1	c.2346+1G>A	NM_001145847.1	NP_001139319.1:p.?	NC_000004.11:g.15985885C>T	(Likely) pathogenic	1 lab	48d94eaf61
15:51829839 DMXL2 G>A	15	51829839	51829839	G	A	DMXL2	c.1463C>T	NM_001174116.1	NP_001167587.1:p.(Thr488Met)	NC_000015.9:g.51829839G>A	VUS	1 lab	48d9f82b30
7:92129156 PEX1 AG>A	7	92129156	92129157	AG	A	PEX1	c.2584-5del	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92129157del	(Likely) benign	1 lab	48dcde552b
19:1460814 APC2 C>T	19	1460814	1460814	C	T	APC2	c.1479C>T	NM_005883.2	NP_005874.1:p.(Ala493=)	NC_000019.9:g.1460814C>T	(Likely) benign	1 lab	48dfb9d4c8
7:94040445 COL1A2 G>A	7	94040445	94040445	G	A	COL1A2	c.1329G>A	NM_000089.3	NP_000080.2:p.(Glu443=)	NC_000007.13:g.94040445G>A	(Likely) benign	1 lab	48e051e476
10:97380934 ALDH18A1 G>A	10	97380934	97380934	G	A	ALDH18A1	c.1321C>T	NM_001323413.1	NP_001310342.1:p.(Arg441Ter)	NC_000010.10:g.97380934G>A	(Likely) pathogenic	1 lab	48e053fe2e
1:160267162 COPA C>T	1	160267162	160267162	C	T	COPA	c.2261G>A	NM_001098398.2	NP_001091868.1:p.(Arg754His)	NC_000001.10:g.160267162C>T	VUS	1 lab	48e1fa4a5f
22:30077593 NF2 A>T	22	30077593	30077593	A	T	NF2	c.1737+3A>T	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30077593A>T	(Likely) pathogenic	1 lab	48e1faf27c
X:9863050 SHROOM2 C>T	X	9863050	9863050	C	T	SHROOM2	c.1102C>T	NM_001649.3	NP_001640.1:p.(Arg368Trp)	NC_000023.10:g.9863050C>T	VUS	1 lab	48e1feba0d
14:23874978 MYH6 G>A	14	23874978	23874978	G	A	MYH6	c.203C>T	NM_002471.3	NP_002462.2:p.(Thr68Met)	NC_000014.8:g.23874978G>A	VUS	1 lab	48e423621a
4:48583616 FRYL C>T	4	48583616	48583616	C	T	FRYL	c.1993G>A	NM_015030.1	NP_055845.1:p.(Val665Ile)	NC_000004.11:g.48583616C>T	(Likely) benign	1 lab	48e62d79b4
3:53125985 RFT1 C>G	3	53125985	53125985	C	G	RFT1	c.1560G>C	NM_052859.3	NP_443091.1:p.(Glu520Asp)	NC_000003.11:g.53125985C>G	VUS	1 lab	48e7580117
16:72133666 DHX38 C>T	16	72133666	72133666	C	T	DHX38	c.996C>T	NM_014003.3	NP_054722.2:p.(Gly332=)	NC_000016.9:g.72133666C>T	(Likely) benign	1 lab	48eaa2e0a6
8:17739546 FGL1 T>C	8	17739546	17739546	T	C	FGL1	c.206A>G	NM_201553.1	NP_963847.1:p.(Asn69Ser)	NC_000008.10:g.17739546T>C	(Likely) benign	1 lab	48ec8e1c93
18:47511134 MYO5B G>A	18	47511134	47511134	G	A	MYO5B	c.900C>T	NM_001080467.2	NP_001073936.1:p.(Asp300=)	NC_000018.9:g.47511134G>A	(Likely) benign	1 lab	48ed1f5de2
2:179407291 TTN C>T	2	179407291	179407291	C	T	TTN	c.97193-1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179407291C>T	(Likely) pathogenic	1 lab	48ee2ec70f
19:10081309 COL5A3 G>A	19	10081309	10081309	G	A	COL5A3	c.3925C>T	NM_015719.3	NP_056534.2:p.(Pro1309Ser)	NC_000019.9:g.10081309G>A	VUS	1 lab	48ee560ef2
1:216108061 USH2A G>A	1	216108061	216108061	G	A	USH2A	c.7197C>T	NM_206933.2	NP_996816.2:p.(Ile2399=)	NC_000001.10:g.216108061G>A	(Likely) benign	1 lab	48ef18f92f
X:25025506 ARX G>A	X	25025506	25025506	G	A	ARX	c.1170C>T	NM_139058.2	NP_620689.1:p.(Gly390=)	NC_000023.10:g.25025506G>A	VUS	1 lab	48f0b5d269
3:185766605 ETV5 A>C	3	185766605	185766605	A	C	ETV5	c.1356T>G	NM_004454.3	NP_004445.1:p.(Asp452Glu)	NC_000003.11:g.185766605A>C	(Likely) benign	1 lab	48f22ed778
12:56117700 RDH5 C>A	12	56117700	56117700	C	A	RDH5	c.600C>A	NM_001199771.1	NP_001186700.1:p.(Val200=)	NC_000012.11:g.56117700C>A	(Likely) benign	1 lab	48f2db5ae6
1:43886459 SZT2 AAC>A	1	43886459	43886464	AAC	A	SZT2	c.1305_1306del	NM_001365999.1	NP_001352928.1:p.(His435GlnfsTer5)	NC_000001.10:g.43886463_43886464del	(Likely) pathogenic	1 lab	48f2f523fb
17:18042172 MYO15A C>T	17	18042172	18042172	C	T	MYO15A	c.5055C>T	NM_016239.3	NP_057323.3:p.(Ala1685=)	NC_000017.10:g.18042172C>T	(Likely) benign	1 lab	48f5fa319b
12:1969369 CACNA2D4 G>A	12	1969369	1969369	G	A	CACNA2D4	c.1882C>T	NM_172364.4	NP_758952.4:p.(Arg628Ter)	NC_000012.11:g.1969369G>A	(Likely) pathogenic	1 lab	48f6230566
16:2240166 CASKIN1 G>A	16	2240166	2240166	G	A	CASKIN1	c.152C>T	NM_020764.3	NP_065815.1:p.(Ser51Leu)	NC_000016.9:g.2240166G>A	VUS	1 lab	48f6986d59
17:8791527 PIK3R5 C>T	17	8791527	8791527	C	T	PIK3R5	c.1577G>A	NM_014308.3	NP_055123.2:p.(Arg526Gln)	NC_000017.10:g.8791527C>T	VUS	1 lab	48f69a0bc5
2:228389494 AGFG1 G>A	2	228389494	228389494	G	A	AGFG1	c.557G>A	NM_001135187.1	NP_001128659.1:p.(Arg186His)	NC_000002.11:g.228389494G>A	VUS	1 lab	48f9e3f219
7:103136300 RELN A>T	7	103136300	103136300	A	T	RELN	c.9239T>A	NM_005045.4	NP_005036.2:p.(Val3080Glu)	NC_000007.13:g.103136300A>T	VUS	1 lab	eeaac3bf1f
3:129233373 IFT122 C>T	3	129233373	129233373	C	T	IFT122	c.3282C>T	NM_052985.3	NP_443711.2:p.(Arg1094=)	NC_000003.11:g.129233373C>T	(Likely) benign	1 lab	48fa05c27e
X:44401330 FUNDC1 C>T	X	44401330	44401330	C	T	FUNDC1	c.46G>A	NM_173794.3	NP_776155.1:p.(Asp16Asn)	NC_000023.10:g.44401330C>T	(Likely) benign	1 lab	48fa792d8b
11:119149252 CBL A>G	11	119149252	119149252	A	G	CBL	c.1260A>G	NM_005188.3	NP_005179.2:p.(Arg420=)	NC_000011.9:g.119149252A>G	(Likely) benign	1 lab	48fcf2bf1f
X:69669603 DLG3 G>A	X	69669603	69669603	G	A	DLG3	c.597G>A	NM_021120.3	NP_066943.2:p.(Ala199=)	NC_000023.10:g.69669603G>A	(Likely) benign	1 lab	48fdc2cee5
11:65488142 RNASEH2C G>A	11	65488142	65488142	G	A	RNASEH2C	c.88C>T	NM_032193.3	NP_115569.2:p.(His30Tyr)	NC_000011.9:g.65488142G>A	VUS	1 lab	48fe615091
19:54310914 NLRP12 T>C	19	54310914	54310914	T	C	NLRP12	c.2081A>G	NM_001277126.1	NP_001264055.1:p.(Glu694Gly)	NC_000019.9:g.54310914T>C	VUS	1 lab	48ff595f85
16:1642207 IFT140 C>T	16	1642207	1642207	C	T	IFT140	c.604G>A	NM_014714.3	NP_055529.2:p.(Gly202Arg)	NC_000016.9:g.1642207C>T	VUS	1 lab	48ff7d9939
1:46661603 POMGNT1 G>T	1	46661603	46661603	G	T	POMGNT1	c.421-7C>A	NM_001243766.1	NP_001230695.1:p.?	NC_000001.10:g.46661603G>T	(Likely) benign	1 lab	48ffd78824
9:117848521 TNC G>A	9	117848521	117848521	G	A	TNC	c.1489C>T	NM_002160.3	NP_002151.2:p.(Arg497Trp)	NC_000009.11:g.117848521G>A	VUS	1 lab	49010660e0
6:100062616 PRDM13 G>A	6	100062616	100062616	G	A	PRDM13	c.2105G>A	NM_021620.3	NP_067633.2:p.(Gly702Asp)	NC_000006.11:g.100062616G>A	VUS	1 lab	490142725a
1:183101599 LAMC1 G>A	1	183101599	183101599	G	A	LAMC1	c.3631G>A	NM_002293.3	NP_002284.3:p.(Ala1211Thr)	NC_000001.10:g.183101599G>A	VUS	1 lab	4901b9134d
X:23019241 DDX53 T>A	X	23019241	23019241	T	A	DDX53	c.1067T>A	NM_182699.3	NP_874358.2:p.(Leu356Gln)	NC_000023.10:g.23019241T>A	VUS	1 lab	4902006889
12:112926887 PTPN11 G>C	12	112926887	112926887	G	C	PTPN11	c.1507G>C	NM_002834.3	NP_002825.3:p.(Gly503Arg)	NC_000012.11:g.112926887G>C	(Likely) pathogenic	1 lab	49032d431b
19:33355561 SLC7A9 G>A	19	33355561	33355561	G	A	SLC7A9	c.209C>T	NM_014270.5	NP_055085.1:p.(Ala70Val)	NC_000019.9:g.33355561G>A	(Likely) pathogenic	1 lab	eeb7cdcecf
4:79396765 FRAS1 G>GT	4	79396765	79396766	G	GT	FRAS1	c.7851+6dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79396766dup	(Likely) benign	1 lab	490843ebff
X:153586667 FLNA C>G	X	153586667	153586667	C	G	FLNA	c.4655G>C	NM_001110556.2	NP_001104026.1:p.(Gly1552Ala)	NC_000023.10:g.153586667C>G	VUS	1 lab	490abc1672
19:16606902 CALR3 C>A	19	16606902	16606902	C	A	CALR3	c.39G>T	NM_145046.4	NP_659483.2:p.(Met13Ile)	NC_000019.9:g.16606902C>A	(Likely) benign	1 lab	490ad1f55e
13:20601372 ZMYM2 C>T	13	20601372	20601372	C	T	ZMYM2	c.1765C>T	NM_003453.6	NP_003444.1:p.(Arg589Ter)	NC_000013.10:g.20601372C>T	(Likely) pathogenic	1 lab	eeb9c09bdc
11:71725284 NUMA1 G>C	11	71725284	71725284	G	C	NUMA1	c.3265C>G	NM_001286561.1	NP_001273490.1:p.(Gln1089Glu)	NC_000011.9:g.71725284G>C	(Likely) benign	1 lab	490bbb686d
3:53220053 PRKCD G>A	3	53220053	53220053	G	A	PRKCD	c.1086+10G>A	NM_001354680.1	NP_001341609.1:p.?	NC_000003.11:g.53220053G>A	(Likely) benign	1 lab	490d536d36
1:175348728 TNR G>C	1	175348728	175348728	G	C	TNR	c.1923C>G	NM_003285.2	NP_003276.3:p.(Val641=)	NC_000001.10:g.175348728G>C	(Likely) benign	1 lab	490de02311
X:108652257 GUCY2F C>A	X	108652257	108652257	C	A	GUCY2F	c.1932G>T	NM_001522.2	NP_001513.2:p.(Trp644Cys)	NC_000023.10:g.108652257C>A	VUS	1 lab	490f45660e
6:126080616 HEY2 A>G	6	126080616	126080616	A	G	HEY2	c.682A>G	NM_012259.3	NP_036391.1:p.(Thr228Ala)	NC_000006.11:g.126080616A>G	VUS	1 lab	49118019ff
22:42609513 TCF20 T>C	22	42609513	42609513	T	C	TCF20	c.1799A>G	NM_005650.3	NP_005641.1:p.(Asn600Ser)	NC_000022.10:g.42609513T>C	(Likely) benign	1 lab	4911dad473
20:10393487 MKKS G>T	20	10393487	10393487	G	T	MKKS	c.676C>A	NM_018848.3	NP_061336.1:p.(Gln226Lys)	NC_000020.10:g.10393487G>T	VUS	1 lab	4911e599d4
11:57575929 CTNND1 C>A	11	57575929	57575929	C	A	CTNND1	c.2159C>A	NM_001085458.1	NP_001078927.1:p.(Thr720Asn)	NC_000011.9:g.57575929C>A	VUS	1 lab	491316815f
7:92134198 PEX1 A>G	7	92134198	92134198	A	G	PEX1	c.1295T>C	NM_001282678.1	NP_001269607.1:p.(Ile432Thr)	NC_000007.13:g.92134198A>G	VUS	1 lab	4915c83494
11:17615605 OTOG G>A	11	17615605	17615605	G	A	OTOG	c.3336G>A	NM_001277269.1	NP_001264198.1:p.(Ala1112=)	NC_000011.9:g.17615605G>A	(Likely) benign	1 lab	4916a6ccf0
14:68157058 RDH11 C>A	14	68157058	68157058	C	A	RDH11	c.535G>T	NM_016026.3	NP_057110.3:p.(Ala179Ser)	NC_000014.8:g.68157058C>A	VUS	1 lab	49176ac435
16:89178528 ACSF3 C>A	16	89178528	89178528	C	A	ACSF3	c.851C>A	NM_001243279.2	NP_001230208.1:p.(Thr284Lys)	NC_000016.9:g.89178528C>A	(Likely) benign	1 lab	4918f1d421
1:44402347 ARTN G>A	1	44402347	44402347	G	A	ARTN	c.597G>A	NM_057090.2	NP_476431.2:p.(Thr199=)	NC_000001.10:g.44402347G>A	(Likely) benign	1 lab	4919debc52
12:124228474 ATP6V0A2 TC>T	12	124228474	124228475	TC	T	ATP6V0A2	c.1182del	NM_012463.4	NP_036595.2:p.(Asn395IlefsTer16)	NC_000012.11:g.124228475del	(Likely) pathogenic	1 lab	4919e6cddf
19:46269313 SIX5 G>C	19	46269313	46269313	G	C	SIX5	c.1666C>G	NM_175875.5	NP_787071.3:p.(Leu556Val)	NC_000019.9:g.46269313G>C	(Likely) benign	1 lab	eebbb7027e
12:64196045 RXYLT1 C>T	12	64196045	64196045	C	T	RXYLT1	c.603C>T	NM_014254.2	NP_055069.1:p.(Leu201=)	NC_000012.11:g.64196045C>T	(Likely) benign	1 lab	491bacdecf
4:151788901 LRBA G>T	4	151788901	151788901	G	T	LRBA	c.2688C>A	NM_006726.4	NP_006717.2:p.(Ile896=)	NC_000004.11:g.151788901G>T	(Likely) benign	1 lab	491dafbf3c
7:82470808 PCLO CT>C	7	82470808	82470811	CT	C	PCLO	c.14063del	NM_033026.6	NP_149015.2:p.(Lys4688ArgfsTer23)	NC_000007.13:g.82470811del	VUS	1 lab	491df17adf
X:138914327 ATP11C G>A	X	138914327	138914327	G	A	ATP11C	c.22C>T	NM_173694.4	NP_775965.2:p.(Pro8Ser)	NC_000023.10:g.138914327G>A	(Likely) benign	1 lab	491e63dd65
6:158579406 SERAC1 T>C	6	158579406	158579406	T	C	SERAC1	c.-1-10A>G	NM_032861.3	NP_116250.3:p.?	NC_000006.11:g.158579406T>C	(Likely) benign	1 lab	49215ca3c2
18:59815507 PIGN A>G	18	59815507	59815507	A	G	PIGN	c.614T>C	NM_176787.4	NP_789744.1:p.(Val205Ala)	NC_000018.9:g.59815507A>G	VUS	1 lab	4921611f94
8:22021530 SFTPC C>T	8	22021530	22021530	C	T	SFTPC	c.552C>T	NM_001172357.1	NP_001165828.1:p.(Gly184=)	NC_000008.10:g.22021530C>T	(Likely) benign	1 lab	4921719041
15:85406830 ALPK3 A>G	15	85406830	85406830	A	G	ALPK3	c.5064A>G	NM_020778.4	NP_065829.3:p.(Ala1688=)	NC_000015.9:g.85406830A>G	(Likely) benign	1 lab	4923a42b36
21:46899872 COL18A1 C>A	21	46899872	46899872	C	A	COL18A1	c.1305C>A	NM_130445.2	NP_569712.2:p.(Gly435=)	NC_000021.8:g.46899872C>A	(Likely) benign	1 lab	4924ce8606
22:21119465 PI4KA G>C	22	21119465	21119465	G	C	PI4KA	c.2497C>G	NM_058004.3	NP_477352.3:p.(Leu833Val)	NC_000022.10:g.21119465G>C	VUS	1 lab	4926e73e53
6:33137845 COL11A2 G>T	6	33137845	33137845	G	T	COL11A2	c.3615C>A	NM_080680.2	NP_542411.2:p.(Asn1205Lys)	NC_000006.11:g.33137845G>T	(Likely) benign	1 lab	49275b14dd
3:14175242 TMEM43 C>T	3	14175242	14175242	C	T	TMEM43	c.516C>T	NM_024334.2	NP_077310.1:p.(Ala172=)	NC_000003.11:g.14175242C>T	(Likely) benign	1 lab	49281f7946
1:156848953 NTRK1 G>A	1	156848953	156848953	G	A	NTRK1	c.1845G>A	NM_002529.3	NP_002520.2:p.(Glu615=)	NC_000001.10:g.156848953G>A	(Likely) benign	1 lab	492871b5e1
16:21049142 DNAH3 G>A	16	21049142	21049142	G	A	DNAH3	c.4891C>T	NM_017539.2	NP_060009.1:p.(Arg1631Trp)	NC_000016.9:g.21049142G>A	VUS	1 lab	4928c6e91b
22:51064354 ARSA C>G	22	51064354	51064354	C	G	ARSA	c.1107+10G>C	NM_000487.5	NP_000478.3:p.?	NC_000022.10:g.51064354C>G	(Likely) benign	1 lab	4928d64138
6:119150244 MCM9 G>A	6	119150244	119150244	G	A	MCM9	c.1495C>T	NM_017696.2	NP_060166.2:p.(Arg499Cys)	NC_000006.11:g.119150244G>A	VUS	1 lab	4929394a6b
17:79093773 AATK C>T	17	79093773	79093773	C	T	AATK	c.3846G>A	NM_001080395.2	NP_001073864.2:p.(Gln1282=)	NC_000017.10:g.79093773C>T	(Likely) benign	1 lab	4929db3355
21:34635142 IFNAR2 G>A	21	34635142	34635142	G	A	IFNAR2	c.885G>A	NM_001289125.1	NP_001276054.1:p.(Pro295=)	NC_000021.8:g.34635142G>A	(Likely) benign	1 lab	4929edb795
18:55371870 ATP8B1 C>T	18	55371870	55371870	C	T	ATP8B1	c.310G>A	NM_005603.6	NP_005594.2:p.(Ala104Thr)	NC_000018.9:g.55371870C>T	(Likely) benign	1 lab	eebdff6ed2
21:47744127 PCNT G>T	21	47744127	47744127	G	T	PCNT	c.-16G>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47744127G>T	(Likely) benign	1 lab	492bc9b146
17:61987405 CSHL1 A>T	17	61987405	61987405	A	T	CSHL1	c.471+117T>A	NM_022579.3	NP_072101.1:p.?	NC_000017.10:g.61987405A>T	(Likely) benign	1 lab	ef5635d8b5
19:58059187 ZNF550 G>A	19	58059187	58059187	G	A	ZNF550	c.425C>T	NM_001277090.1	NP_001264019.1:p.(Pro142Leu)	NC_000019.9:g.58059187G>A	(Likely) benign	1 lab	492d8f73a1
17:5064836 USP6 G>A	17	5064836	5064836	G	A	USP6	c.2842G>A	NM_001304284.1	NP_001291213.1:p.(Gly948Ser)	NC_000017.10:g.5064836G>A	VUS	1 lab	493027f7b3
19:49485582 GYS1 C>T	19	49485582	49485582	C	T	GYS1	c.992G>A	NM_002103.4	NP_002094.2:p.(Arg331His)	NC_000019.9:g.49485582C>T	VUS	1 lab	4931931043
X:10085595 WWC3 T>A	X	10085595	10085595	T	A	WWC3	c.1496T>A	NM_015691.3	NP_056506.2:p.(Leu499Gln)	NC_000023.10:g.10085595T>A	VUS	1 lab	4933902798
17:40715084 COASY C>G	17	40715084	40715084	C	G	COASY	c.444C>G	NM_025233.6	NP_079509.5:p.(Ala148=)	NC_000017.10:g.40715084C>G	(Likely) benign	1 lab	4933f37cdc
9:74330008 CEMIP2 G>C	9	74330008	74330008	G	C	CEMIP2	c.2436-3C>G	NM_013390.2	NP_037522.1:p.?	NC_000009.11:g.74330008G>C	VUS	1 lab	4934b9f3a1
11:76832987 CAPN5 C>T	11	76832987	76832987	C	T	CAPN5	c.1495C>T	NM_004055.4	NP_004046.2:p.(Arg499Cys)	NC_000011.9:g.76832987C>T	VUS	1 lab	493574d7d6
X:48547322 WAS C>T	X	48547322	48547322	C	T	WAS	c.1205C>T	NM_000377.2	NP_000368.1:p.(Pro402Leu)	NC_000023.10:g.48547322C>T	VUS	1 lab	4935f6a61b
6:99365295 FBXL4 G>A	6	99365295	99365295	G	A	FBXL4	c.813C>T	NM_001278716.1	NP_001265645.1:p.(Leu271=)	NC_000006.11:g.99365295G>A	(Likely) benign	1 lab	4935fbd41f
X:153589847 FLNA C>T	X	153589847	153589847	C	T	FLNA	c.3036G>A	NM_001110556.2	NP_001104026.1:p.(Ser1012=)	NC_000023.10:g.153589847C>T	VUS	1 lab	4936301303
3:43621951 ANO10 G>A	3	43621951	43621951	G	A	ANO10	c.486C>T	NM_018075.4	NP_060545.3:p.(Leu162=)	NC_000003.11:g.43621951G>A	(Likely) benign	1 lab	49373825b2
3:137881014 DBR1 G>A	3	137881014	137881014	G	A	DBR1	c.1352C>T	NM_016216.3	NP_057300.2:p.(Ser451Leu)	NC_000003.11:g.137881014G>A	(Likely) benign	1 lab	493894f671
17:32953334 TMEM132E G>C	17	32953334	32953334	G	C	TMEM132E	c.256G>C	NM_001304438.1	NP_001291367.1:p.(Glu86Gln)	NC_000017.10:g.32953334G>C	VUS	1 lab	493a07cb71
22:29196469 XBP1 G>A	22	29196469	29196469	G	A	XBP1	c.44C>T	NM_005080.3	NP_005071.2:p.(Pro15Leu)	NC_000022.10:g.29196469G>A	VUS	1 lab	493d4f9d37
7:91863850 KRIT1 G>C	7	91863850	91863850	G	C	KRIT1	c.902C>G	NM_004912.4	NP_004903.2:p.(Ser301Ter)	NC_000007.13:g.91863850G>C	(Likely) pathogenic	1 lab	493d61b74b
X:13776534 OFD1 G>A	X	13776534	13776534	G	A	OFD1	c.1201G>A	NM_001330210.1	NP_001317139.1:p.(Asp401Asn)	NC_000023.10:g.13776534G>A	VUS	1 lab	493df3308d
22:16449467 OR11H1 A>G	22	16449467	16449467	A	G	OR11H1	c.338T>C	NM_001005239.1	NP_001005239.1:p.(Phe113Ser)	NC_000022.10:g.16449467A>G	VUS	1 lab	49419bf4d4
7:158663939 DYNC2I1 A>G	7	158663939	158663939	A	G	DYNC2I1	c.38A>G	NM_001350914.1	NP_001337843.1:p.(Asp13Gly)	NC_000007.13:g.158663939A>G	(Likely) benign	1 lab	49421f5cb2
10:27437965 YME1L1 G>A	10	27437965	27437965	G	A	YME1L1	c.38C>T	NM_139312.2	NP_647473.1:p.(Thr13Ile)	NC_000010.10:g.27437965G>A	VUS	1 lab	4942ebfe89
17:29665791 NF1 GC>TA	17	29665791	29665792	GC	TA	NF1	c.6826_6827delinsTA	NM_000267.3	NP_000258.1:p.(Ala2276Ter)	NC_000017.10:g.29665791_29665792delinsTA	(Likely) pathogenic	1 lab	4944d2af97
14:23852439 MYH6 C>T	14	23852439	23852439	C	T	MYH6	c.5656G>A	NM_002471.3	NP_002462.2:p.(Glu1886Lys)	NC_000014.8:g.23852439C>T	VUS	1 lab	49451bdd3c
12:103352508 ASCL1 G>C	12	103352508	103352508	G	C	ASCL1	c.486G>C	NM_004316.3	NP_004307.2:p.(Ser162=)	NC_000012.11:g.103352508G>C	(Likely) benign	1 lab	4945787fb1
1:45288962 PTCH2 C>G	1	45288962	45288962	C	G	PTCH2	c.3210G>C	NM_001166292.1	NP_001159764.1:p.(Leu1070Phe)	NC_000001.10:g.45288962C>G	VUS	1 lab	4945ba319e
15:25616747 UBE3A T>C	15	25616747	25616747	T	C	UBE3A	c.514A>G	NM_130838.1	NP_570853.1:p.(Lys172Glu)	NC_000015.9:g.25616747T>C	(Likely) benign	1 lab	4947494666
8:133911138 TG G>A	8	133911138	133911138	G	A	TG	c.3313G>A	NM_003235.4	NP_003226.4:p.(Val1105Ile)	NC_000008.10:g.133911138G>A	(Likely) benign	1 lab	49475cb4e8
5:13902234 DNAH5 T>C	5	13902234	13902234	T	C	DNAH5	c.1658A>G	NM_001369.2	NP_001360.1:p.(Lys553Arg)	NC_000005.9:g.13902234T>C	(Likely) benign	1 lab	494873e4f2
9:135779819 TSC1 CAG>C	9	135779819	135779822	CAG	C	TSC1	c.2018_2019del	NM_000368.5	NP_000359.1:p.(Ser673CysfsTer14)	NC_000009.11:g.135779821_135779822del	(Likely) pathogenic	1 lab	49494bdcb2
9:17409335 CNTLN T>C	9	17409335	17409335	T	C	CNTLN	c.2660T>C	NM_017738.4	NP_060208.2:p.(Ile887Thr)	NC_000009.11:g.17409335T>C	(Likely) benign	1 lab	494b7215ea
11:615250 IRF7 T>TG	11	615250	615254	T	TG	IRF7	c.68dup	NM_004031.3	NP_004022.2:p.(Arg24ThrfsTer18)	NC_000011.9:g.615254dup	(Likely) pathogenic	1 lab	494c5adb9c
2:54856123 SPTBN1 T>C	2	54856123	54856123	T	C	SPTBN1	c.1852T>C	NM_003128.3	NP_003119.2:p.(Phe618Leu)	NC_000002.11:g.54856123T>C	VUS	1 lab	eec296aa9a
11:85597411 CCDC83 G>C	11	85597411	85597411	G	C	CCDC83	c.511+1G>C	NM_173556.4	NP_775827.2:p.?	NC_000011.9:g.85597411G>C	VUS	1 lab	494f130e54
4:56875932 CEP135 C>A	4	56875932	56875932	C	A	CEP135	c.2368C>A	NM_025009.4	NP_079285.2:p.(Arg790Ser)	NC_000004.11:g.56875932C>A	VUS	1 lab	494f7216e4
5:169533269 FOXI1 G>A	5	169533269	169533269	G	A	FOXI1	c.308G>A	NM_012188.4	NP_036320.2:p.(Gly103Glu)	NC_000005.9:g.169533269G>A	VUS	1 lab	4950e11bb3
19:11557156 PRKCSH G>A	19	11557156	11557156	G	A	PRKCSH	c.753G>A	NM_001289103.1	NP_001276032.1:p.(Ala251=)	NC_000019.9:g.11557156G>A	(Likely) benign	1 lab	4952f7f602
2:25972936 ASXL2 C>T	2	25972936	25972936	C	T	ASXL2	c.1489G>A	NM_018263.5	NP_060733.4:p.(Ala497Thr)	NC_000002.11:g.25972936C>T	(Likely) benign	1 lab	49534e85ed
4:10089994 WDR1 A>G	4	10089994	10089994	A	G	WDR1	c.640T>C	NM_017491.4	NP_059830.1:p.(Tyr214His)	NC_000004.11:g.10089994A>G	(Likely) benign	1 lab	495454efa0
11:31823275 PAX6 C>A	11	31823275	31823275	C	A	PAX6	c.233G>T	NM_001310158.1	NP_001297087.1:p.(Gly78Val)	NC_000011.9:g.31823275C>A	VUS	1 lab	495478ae5d
16:79633073 MAF CCGCCCCCGCCG>C	16	79633073	79633096	CCGCCCCCGCCG	C	MAF	c.716_726del	NM_005360.5	NP_005351.2:p.(Ala239GlyfsTer133)	NC_000016.9:g.79633086_79633096del	(Likely) pathogenic	1 lab	4954ee91b9
14:53570465 DDHD1 A>G	14	53570465	53570465	A	G	DDHD1	c.948T>C	NM_001160148.1	NP_001153620.1:p.(Phe316=)	NC_000014.8:g.53570465A>G	(Likely) benign	1 lab	49550c7d13
2:97427143 CNNM4 C>A	2	97427143	97427143	C	A	CNNM4	c.407C>A	NM_020184.3	NP_064569.3:p.(Thr136Asn)	NC_000002.11:g.97427143C>A	VUS	1 lab	495589078a
2:31756440 SRD5A2 C>T	2	31756440	31756440	C	T	SRD5A2	c.547+1G>A	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31756440C>T	(Likely) pathogenic	1 lab	4955d60b79
17:18064680 MYO15A C>T	17	18064680	18064680	C	T	MYO15A	c.9436C>T	NM_016239.3	NP_057323.3:p.(His3146Tyr)	NC_000017.10:g.18064680C>T	(Likely) benign	1 lab	4957431480
X:100871494 ARMCX6 C>G	X	100871494	100871494	C	G	ARMCX6	c.117G>C	NM_001184768.1	NP_001171697.1:p.(Glu39Asp)	NC_000023.10:g.100871494C>G	(Likely) benign	1 lab	49574d8218
3:50223774 SEMA3F C>G	3	50223774	50223774	C	G	SEMA3F	c.1806C>G	NM_004186.5	NP_004177.3:p.(Asn602Lys)	NC_000003.11:g.50223774C>G	VUS	1 lab	4957aaaf99
7:103138556 RELN C>T	7	103138556	103138556	C	T	RELN	c.8811G>A	NM_173054.2	NP_774959.1:p.(Ala2937=)	NC_000007.13:g.103138556C>T	(Likely) benign	1 lab	49580f546e
11:76918373 MYO7A T>C	11	76918373	76918373	T	C	MYO7A	c.5782T>C	NM_000260.3	NP_000251.3:p.(Cys1928Arg)	NC_000011.9:g.76918373T>C	VUS	1 lab	49586dc2fd
3:403388 CHL1 G>A	3	403388	403388	G	A	CHL1	c.1313G>A	NM_006614.4	NP_006605.2:p.(Arg438His)	NC_000003.11:g.403388G>A	(Likely) benign	1 lab	4958eacf7f
16:56459227 AMFR AG>A	16	56459227	56459228	AG	A	AMFR	c.12del	NM_001144.6	NP_001135.3:p.(Phe5SerfsTer45)	NC_000016.9:g.56459228del	(Likely) pathogenic	1 lab	49593d29bf
4:57796175 REST T>G	4	57796175	57796175	T	G	REST	c.1151T>G	NM_005612.4	NP_005603.3:p.(Val384Gly)	NC_000004.11:g.57796175T>G	VUS	1 lab	495a464e39
22:24916355 UPB1 C>A	22	24916355	24916355	C	A	UPB1	c.792C>A	NM_016327.2	NP_057411.1:p.(Ser264Arg)	NC_000022.10:g.24916355C>A	VUS	1 lab	495a7528be
17:78087053 GAA C>CA	17	78087053	78087054	C	CA	GAA	c.2078dup	NM_000152.3	NP_000143.2:p.(Ala694GlyfsTer43)	NC_000017.10:g.78087054dup	(Likely) pathogenic	1 lab	495b4f1284
7:69583204 AUTS2 G>T	7	69583204	69583204	G	T	AUTS2	c.609G>T	NM_001127231.2	NP_001120703.1:p.(Arg203=)	NC_000007.13:g.69583204G>T	(Likely) benign	1 lab	495b8c9963
1:36932410 CSF3R C>T	1	36932410	36932410	C	T	CSF3R	c.2140G>A	NM_156039.3	NP_724781.1:p.(Gly714Ser)	NC_000001.10:g.36932410C>T	(Likely) benign	1 lab	495bc0d2a9
8:61713127 CHD7 T>TGGACTA	8	61713127	61713134	T	TGGACTA	CHD7	c.2376+45_2376+50dup	NM_017780.2	NP_060250.2:p.?	NC_000008.10:g.61713129_61713134dup	(Likely) benign	1 lab	495df1003a
8:41543674 ANK1 T>C	8	41543674	41543674	T	C	ANK1	c.4509A>G	NM_001142446.1	NP_001135918.1:p.(Ala1503=)	NC_000008.10:g.41543674T>C	(Likely) benign	1 lab	495e20d08d
1:150532625 ADAMTSL4 C>G	1	150532625	150532625	C	G	ADAMTSL4	c.3247C>G	NM_001288608.1	NP_001275537.1:p.(Arg1083Gly)	NC_000001.10:g.150532625C>G	VUS	1 lab	495ef287b3
10:21185962 NEBL T>C	10	21185962	21185962	T	C	NEBL	c.82-4A>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21185962T>C	(Likely) benign	1 lab	495f11cd19
7:24756958 GSDME G>A	7	24756958	24756958	G	A	GSDME	c.612C>T	NM_004403.2	NP_004394.1:p.(Asp204=)	NC_000007.13:g.24756958G>A	(Likely) benign	1 lab	4960e5fdec
2:69304601 ANTXR1 T>C	2	69304601	69304601	T	C	ANTXR1	c.623T>C	NM_032208.2	NP_115584.1:p.(Leu208Pro)	NC_000002.11:g.69304601T>C	VUS	1 lab	4961d3c7e1
1:207647648 CR2 A>C	1	207647648	207647648	A	C	CR2	c.2303A>C	NM_001006658.2	NP_001006659.1:p.(Lys768Thr)	NC_000001.10:g.207647648A>C	(Likely) benign	1 lab	496500fc0a
7:151873400 KMT2C A>T	7	151873400	151873400	A	T	KMT2C	c.9138T>A	NM_170606.2	NP_733751.2:p.(Leu3046=)	NC_000007.13:g.151873400A>T	(Likely) benign	1 lab	49655eb82d
2:71191572 ATP6V1B1 A>AC	2	71191572	71191579	A	AC	ATP6V1B1	c.1155dup	NM_001692.4	NP_001683.2:p.(Ile386HisfsTer56)	NC_000002.11:g.71191579dup	(Likely) pathogenic	1 lab	49661712db
1:11825928 C1orf167 C>T	1	11825928	11825928	C	T	C1orf167	c.85C>T	NM_001010881.1	NP_001010881.1:p.(Arg29Trp)	NC_000001.10:g.11825928C>T	(Likely) benign	1 lab	4967960c7c
11:35440492 SLC1A2 C>T	11	35440492	35440492	C	T	SLC1A2	c.-130+991G>A	NM_001195728.3	NP_001182657.1:p.?	NC_000011.9:g.35440492C>T	VUS	1 lab	eec4f70579
5:140229719 PCDHA9 A>C	5	140229719	140229719	A	C	PCDHA9	c.1639A>C	NM_014005.4	NP_054724.1:p.(Ser547Arg)	NC_000005.9:g.140229719A>C	VUS	1 lab	49693dc5c1
21:46912468 COL18A1 C>G	21	46912468	46912468	C	G	COL18A1	c.2717C>G	NM_030582.4	NP_085059.2:p.(Pro906Arg)	NC_000021.8:g.46912468C>G	VUS	1 lab	496d0c98de
6:99856087 PNISR C>T	6	99856087	99856087	C	T	PNISR	c.734G>A	NM_001322406.1	NP_001309335.1:p.(Arg245His)	NC_000006.11:g.99856087C>T	VUS	1 lab	496d1bc176
2:27275904 AGBL5 A>C	2	27275904	27275904	A	C	AGBL5	c.78A>C	NM_021831.5	NP_068603.4:p.(Glu26Asp)	NC_000002.11:g.27275904A>C	VUS	1 lab	496dbeb81a
7:141618868 OR9A4 C>G	7	141618868	141618868	C	G	OR9A4	c.193C>G	NM_001001656.1	NP_001001656.1:p.(Leu65Val)	NC_000007.13:g.141618868C>G	VUS	1 lab	496dd01b8e
10:125780752 CHST15 C>CG	10	125780752	125780764	C	CG	CHST15	c.1366dup	NM_001270765.1	NP_001257694.1:p.(Arg456ProfsTer50)	NC_000010.10:g.125780764dup	(Likely) benign	1 lab	496e164bf9
6:32805331 TAP2 G>A	6	32805331	32805331	G	A	TAP2	c.591C>T	NM_001290043.1	NP_001276972.1:p.(Cys197=)	NC_000006.11:g.32805331G>A	(Likely) benign	1 lab	496e578948
1:197069818 ASPM T>A	1	197069818	197069818	T	A	ASPM	c.8563A>T	NM_018136.4	NP_060606.3:p.(Arg2855Ter)	NC_000001.10:g.197069818T>A	(Likely) pathogenic	1 lab	496f4ae468
16:2813385 SRRM2 AGT>A	16	2813385	2813387	AGT	A	SRRM2	c.2857_2858del	NM_016333.4	NP_057417.3:p.(Val953IlefsTer29)	NC_000016.9:g.2813386_2813387del	VUS	1 lab	4970002dba
9:135781248 TSC1 G>A	9	135781248	135781248	G	A	TSC1	c.1717C>T	NM_000368.4	NP_000359.1:p.(Gln573Ter)	NC_000009.11:g.135781248G>A	(Likely) pathogenic	1 lab	4972969fc5
1:144952687 PDE4DIP G>C	1	144952687	144952687	G	C	PDE4DIP	c.221C>G	NM_014644.5	NP_055459.5:p.(Ala74Gly)	NC_000001.10:g.144952687G>C	(Likely) benign	1 lab	497856865c
3:38621016 SCN5A C>T	3	38621016	38621016	C	T	SCN5A	c.3229-30G>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38621016C>T	(Likely) benign	1 lab	4979092d36
18:47363118 MYO5B GCCTCTGCGTCCT>G	18	47363118	47363133	GCCTCTGCGTCCT	G	MYO5B	c.5264_5275del	NM_001080467.3	NP_001073936.1:p.(Glu1755_Glu1758del)	NC_000018.9:g.47363122_47363133del	VUS	1 lab	49791fe774
4:74282070 ALB C>T	4	74282070	74282070	C	T	ALB	c.1289C>T	NM_000477.6	NP_000468.1:p.(Ala430Val)	NC_000004.11:g.74282070C>T	(Likely) benign	1 lab	497a37adc7
X:114425671 RBMXL3 G>A	X	114425671	114425671	G	A	RBMXL3	c.1667G>A	NM_001145346.1	NP_001138818.1:p.(Arg556Gln)	NC_000023.10:g.114425671G>A	(Likely) benign	1 lab	497b5dae40
X:129264072 AIFM1 G>A	X	129264072	129264072	G	A	AIFM1	c.1643C>T	NM_004208.3	NP_004199.1:p.(Pro548Leu)	NC_000023.10:g.129264072G>A	(Likely) benign	1 lab	497d95205b
2:29296314 PCARE G>T	2	29296314	29296314	G	T	PCARE	c.814C>A	NM_001029883.2	NP_001025054.1:p.(Gln272Lys)	NC_000002.11:g.29296314G>T	VUS	1 lab	497da16314
15:51223056 AP4E1 C>G	15	51223056	51223056	C	G	AP4E1	c.532C>G	NM_001252127.1	NP_001239056.1:p.(Gln178Glu)	NC_000015.9:g.51223056C>G	VUS	1 lab	497e12146d
3:97595316 CRYBG3 T>A	3	97595316	97595316	T	A	CRYBG3	c.5278T>A	NM_153605.4	NP_705833.3:p.(Leu1760Ile)	NC_000003.11:g.97595316T>A	(Likely) benign	1 lab	497e2f87e4
8:140630513 KCNK9 C>G	8	140630513	140630513	C	G	KCNK9	c.1113G>C	NM_001282534.1	NP_001269463.1:p.(Arg371=)	NC_000008.10:g.140630513C>G	(Likely) benign	1 lab	4980ae136b
X:101615529 MISSING A>G	X	101615529	101615529	A	G	MISSING				NC_000023.10:g.101615529A>G	(Likely) benign	1 lab	a836d197a8
5:140595688 PCDHB13 G>T	5	140595688	140595688	G	T	PCDHB13	c.1993G>T	NM_018933.3	NP_061756.1:p.(Gly665Cys)	NC_000005.9:g.140595688G>T	VUS	1 lab	4980e744d4
5:82789636 VCAN G>A	5	82789636	82789636	G	A	VCAN	c.634G>A	NM_004385.4	NP_004376.2:p.(Ala212Thr)	NC_000005.9:g.82789636G>A	(Likely) benign	1 lab	4981335a59
1:145510376 RBM8A A>G	1	145510376	145510376	A	G	RBM8A	c.*1165=	NM_005105.4	NP_005096.1:p.?	NC_000001.10:g.145510376A>G	(Likely) benign	1 lab	498213211d
2:109379899 RANBP2 G>C	2	109379899	109379899	G	C	RANBP2	c.2904G>C	NM_006267.4	NP_006258.3:p.(Gln968His)	NC_000002.11:g.109379899G>C	VUS	1 lab	4982d3bd51
9:135778141 TSC1 G>A	9	135778141	135778141	G	A	TSC1	c.2242C>T	NM_000368.4	NP_000359.1:p.(Gln748Ter)	NC_000009.11:g.135778141G>A	(Likely) pathogenic	1 lab	4983c335cb
X:11206976 ARHGAP6 G>T	X	11206976	11206976	G	T	ARHGAP6	c.949C>A	NM_013427.2	NP_038286.2:p.(Pro317Thr)	NC_000023.10:g.11206976G>T	VUS	1 lab	4984a44566
12:6140691 VWF T>G	12	6140691	6140691	T	G	VWF	c.2739A>C	NM_000552.3	NP_000543.2:p.(Gly913=)	NC_000012.11:g.6140691T>G	(Likely) benign	1 lab	498524bff7
3:47030855 NBEAL2 C>T	3	47030855	47030855	C	T	NBEAL2	c.457C>T	NM_015175.2	NP_055990.1:p.(Arg153Trp)	NC_000003.11:g.47030855C>T	VUS	1 lab	4985c2d11b
X:47058765 UBA1 C>T	X	47058765	47058765	C	T	UBA1	c.334C>T	NM_003334.4	NP_003325.2:p.(Leu112Phe)	NC_000023.10:g.47058765C>T	VUS	1 lab	4988679da6
1:147381211 GJA8 G>A	1	147381211	147381211	G	A	GJA8	c.1129G>A	NM_005267.4	NP_005258.2:p.(Val377Met)	NC_000001.10:g.147381211G>A	(Likely) benign	1 lab	498910f64c
3:39433103 SLC25A38 C>T	3	39433103	39433103	C	T	SLC25A38	c.448C>T	NM_017875.4	NP_060345.2:p.(Arg150Cys)	NC_000003.11:g.39433103C>T	VUS	1 lab	498abaf831
21:46308630 ITGB2 G>C	21	46308630	46308630	G	C	ITGB2	c.2058C>G	NM_000211.3	NP_000202.2:p.(Leu686=)	NC_000021.8:g.46308630G>C	(Likely) benign	1 lab	498b145170
3:58139231 FLNB C>T	3	58139231	58139231	C	T	FLNB	c.6497C>T	NM_001457.4	NP_001448.2:p.(Thr2166Met)	NC_000003.11:g.58139231C>T	VUS	1 lab	eec557daa1
15:77321908 PSTPIP1 C>G	15	77321908	77321908	C	G	PSTPIP1	c.528C>G	NM_001321136.1	NP_001308065.1:p.(Thr176=)	NC_000015.9:g.77321908C>G	(Likely) benign	1 lab	498d2f85ba
9:101904851 TGFBR1 C>T	9	101904851	101904851	C	T	TGFBR1	c.851C>T	NM_001306210.1	NP_001293139.1:p.(Ser284Leu)	NC_000009.11:g.101904851C>T	VUS	1 lab	498dd3ee48
X:25031650 ARX C>A	X	25031650	25031650	C	A	ARX	c.462G>T	NM_139058.2	NP_620689.1:p.(Ala154=)	NC_000023.10:g.25031650C>A	(Likely) benign	1 lab	498fae92c4
8:61777976 CHD7 C>T	8	61777976	61777976	C	T	CHD7				NC_000008.10:g.61777976C>T	(Likely) benign	1 lab	4990fde8f1
6:143091222 HIVEP2 G>A	6	143091222	143091222	G	A	HIVEP2	c.4654C>T	NM_006734.3	NP_006725.3:p.(Pro1552Ser)	NC_000006.11:g.143091222G>A	(Likely) benign	1 lab	4991e4ebc7
13:48954350 RB1 CT>C	13	48954350	48954352	CT	C	RB1	c.1473del	NM_000321.3	NP_000312.2:p.(Glu492ArgfsTer3)	NC_000013.10:g.48954352del	(Likely) pathogenic	1 lab	eec7ddeabd
11:18320466 HPS5 T>C	11	18320466	18320466	T	C	HPS5	c.1037A>G	NM_181507.1	NP_852608.1:p.(Asn346Ser)	NC_000011.9:g.18320466T>C	(Likely) benign	1 lab	4992316b63
16:82673041 CDH13 C>T	16	82673041	82673041	C	T	CDH13	c.157C>T	NM_001220488.1	NP_001207417.1:p.(Arg53Cys)	NC_000016.9:g.82673041C>T	(Likely) benign	1 lab	4993b4a674
2:122288496 RNU4ATAC G>A	2	122288496	122288496	G	A	RNU4ATAC	n.41G>A	NR_023343.1		NC_000002.11:g.122288496G>A	VUS	1 lab	4994991be2
3:129202387 IFT122 G>T	3	129202387	129202387	G	T	IFT122	c.1866G>T	NM_052985.3	NP_443711.2:p.(Ser622=)	NC_000003.11:g.129202387G>T	(Likely) benign	1 lab	4995d01e78
19:38609940 SIPA1L3 C>T	19	38609940	38609940	C	T	SIPA1L3	c.2292-6C>T	NM_015073.2	NP_055888.1:p.?	NC_000019.9:g.38609940C>T	(Likely) benign	1 lab	4997ae0853
10:49450312 FRMPD2 C>T	10	49450312	49450312	C	T	FRMPD2	c.459G>A	NM_001018071.4	NP_001018081.4:p.(Ser153=)	NC_000010.10:g.49450312C>T	(Likely) benign	1 lab	4998d010b6
11:130060344 ST14 C>T	11	130060344	130060344	C	T	ST14	c.635-5C>T	NM_021978.3	NP_068813.1:p.?	NC_000011.9:g.130060344C>T	(Likely) benign	1 lab	4998dc22c8
11:2186957 TH G>T	11	2186957	2186957	G	T	TH	c.1234C>A	NM_199292.2	NP_954986.2:p.(Gln412Lys)	NC_000011.9:g.2186957G>T	(Likely) pathogenic	1 lab	4999b45d4a
17:29653028 NF1 G>A	17	29653028	29653028	G	A	NF1	c.4963G>A	NM_000267.3	NP_000258.1:p.(Ala1655Thr)	NC_000017.10:g.29653028G>A	(Likely) benign	1 lab	499a092f79
6:46047551 CLIC5 A>T	6	46047551	46047551	A	T	CLIC5	c.429T>A	NM_001114086.1	NP_001107558.1:p.(Ile143=)	NC_000006.11:g.46047551A>T	(Likely) benign	1 lab	499a82991b
12:20523148 PDE3A G>T	12	20523148	20523148	G	T	PDE3A	c.930G>T	NM_000921.4	NP_000912.3:p.(Arg310Ser)	NC_000012.11:g.20523148G>T	VUS	1 lab	499c3f0581
1:234744866 IRF2BP2 CCT>C	1	234744866	234744871	CCT	C	IRF2BP2	c.373_374del	NM_182972.3	NP_892017.2:p.(Arg125AlafsTer7)	NC_000001.10:g.234744870_234744871del	VUS	1 lab	499c85534c
2:163133302 IFIH1 C>A	2	163133302	163133302	C	A	IFIH1	c.2199G>T	NM_022168.4	NP_071451.2:p.(Ala733=)	NC_000002.11:g.163133302C>A	(Likely) benign	1 lab	499c9449e6
1:237942049 RYR2 T>C	1	237942049	237942049	T	C	RYR2	c.11859T>C	NM_001035.2	NP_001026.2:p.(His3953=)	NC_000001.10:g.237942049T>C	(Likely) benign	1 lab	499c9a093d
3:123066696 ADCY5 C>G	3	123066696	123066696	C	G	ADCY5	c.1339G>C	NM_183357.2	NP_899200.1:p.(Asp447His)	NC_000003.11:g.123066696C>G	VUS	1 lab	499ce87e25
17:74474943 RHBDF2 C>G	17	74474943	74474943	C	G	RHBDF2	c.704G>C	NM_024599.5	NP_078875.4:p.(Arg235Pro)	NC_000017.10:g.74474943C>G	VUS	1 lab	499cfebd18
3:195594874 TNK2 C>T	3	195594874	195594874	C	T	TNK2	c.2250G>A	NM_005781.4	NP_005772.3:p.(Thr750=)	NC_000003.11:g.195594874C>T	(Likely) benign	1 lab	499db8aed6
2:107041121 RGPD3 T>C	2	107041121	107041121	T	C	RGPD3	c.3302A>G	NM_001144013.1	NP_001137485.1:p.(Gln1101Arg)	NC_000002.11:g.107041121T>C	(Likely) benign	1 lab	499e9fc6d5
7:5752507 RNF216 G>A	7	5752507	5752507	G	A	RNF216	c.1834-13C>T	NM_207111.3	NP_996994.1:p.?	NC_000007.13:g.5752507G>A	(Likely) benign	1 lab	499fd6a4e6
10:43615003 RET A>AGC	10	43615003	43615004	A	AGC	RET	c.2417_2418insGC	NM_020975.6	NP_066124.1:p.(Tyr806Ter)	NC_000010.10:g.43615003_43615004insGC	(Likely) pathogenic	1 lab	eed45cad81
5:176638403 NSD1 CAA>C	5	176638403	176638405	CAA	C	NSD1	c.3004_3005del	NM_022455.5	NP_071900.2:p.(Lys1002GlufsTer8)	NC_000005.9:g.176638404_176638405del	(Likely) pathogenic	1 lab	49a374c029
17:29684020 NF1 G>A	17	29684020	29684020	G	A	NF1	c.7718G>A	NM_000267.3	NP_000258.1:p.(Arg2573His)	NC_000017.10:g.29684020G>A	VUS	1 lab	eed4663197
2:152717331 CACNB4 A>T	2	152717331	152717331	A	T	CACNB4	c.762T>A	NM_000726.4	NP_000717.2:p.(Ile254=)	NC_000002.11:g.152717331A>T	(Likely) benign	1 lab	49a4f825e9
X:47072254 UBA1 C>T	X	47072254	47072254	C	T	UBA1	c.2638C>T	NM_003334.4	NP_003325.2:p.(Arg880Trp)	NC_000023.10:g.47072254C>T	VUS	1 lab	49a564193c
22:46932032 CELSR1 T>A	22	46932032	46932032	T	A	CELSR1	c.1036A>T	NM_014246.4	NP_055061.1:p.(Thr346Ser)	NC_000022.10:g.46932032T>A	(Likely) benign	1 lab	eed5f84d79
17:11650878 DNAH9 C>G	17	11650878	11650878	C	G	DNAH9	c.6405C>G	NM_001372.3	NP_001363.2:p.(Val2135=)	NC_000017.10:g.11650878C>G	(Likely) benign	1 lab	49a59f4e43
7:70252211 AUTS2 C>T	7	70252211	70252211	C	T	AUTS2	c.2253C>T	NM_001127231.2	NP_001120703.1:p.(Phe751=)	NC_000007.13:g.70252211C>T	(Likely) benign	1 lab	49a6e6ef22
16:87925515 CA5A G>A	16	87925515	87925515	G	A	CA5A	c.664C>T	NM_001367225.1	NP_001354154.1:p.(Pro222Ser)	NC_000016.9:g.87925515G>A	VUS	1 lab	49acebc738
X:39934090 BCOR C>T	X	39934090	39934090	C	T	BCOR	c.509G>A	NM_001123385.1	NP_001116857.1:p.(Arg170Lys)	NC_000023.10:g.39934090C>T	VUS	1 lab	49aceda215
12:22005003 ABCC9 T>G	12	22005003	22005003	T	G	ABCC9	c.2769+28A>C	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22005003T>G	(Likely) benign	1 lab	49adbe03f4
1:197112608 ASPM T>G	1	197112608	197112608	T	G	ASPM	c.774A>C	NM_018136.4	NP_060606.3:p.(Leu258=)	NC_000001.10:g.197112608T>G	(Likely) benign	1 lab	49ae50ec1e
14:90429995 TDP1 C>T	14	90429995	90429995	C	T	TDP1	c.537C>T	NM_018319.3	NP_060789.2:p.(Asn179=)	NC_000014.8:g.90429995C>T	(Likely) benign	1 lab	49af4dd673
X:44923007 KDM6A A>C	X	44923007	44923007	A	C	KDM6A	c.2024A>C	NM_001291415.1	NP_001278344.1:p.(Asn675Thr)	NC_000023.10:g.44923007A>C	VUS	1 lab	49b0880e26
1:108786311 NBPF4 G>A	1	108786311	108786311	G	A	NBPF4	c.73C>T	NM_001143989.2	NP_001137461.1:p.(Arg25Cys)	NC_000001.10:g.108786311G>A	(Likely) benign	1 lab	49b0dd5de0
20:62323109 RTEL1 C>CA	20	62323109	62323110	C	CA	RTEL1	c.2572dup	NM_001283009.1	NP_001269938.1:p.(Thr858AsnfsTer7)	NC_000020.10:g.62323110dup	(Likely) pathogenic	1 lab	49b1d9bb13
8:141461337 TRAPPC9 C>T	8	141461337	141461337	C	T	TRAPPC9	c.136G>A	NM_001321646.1	NP_001308575.1:p.(Val46Met)	NC_000008.10:g.141461337C>T	VUS	1 lab	49b4609612
X:123019928 XIAP A>G	X	123019928	123019928	A	G	XIAP	c.416A>G	NM_001167.3	NP_001158.2:p.(Tyr139Cys)	NC_000023.10:g.123019928A>G	VUS	1 lab	49b4ef7f86
8:145005737 PLEC C>T	8	145005737	145005737	C	T	PLEC	c.2350G>A	NM_000445.5	NP_000436.2:p.(Val784Ile)	NC_000008.10:g.145005737C>T	VUS	1 lab	eed9c51c82
17:48273903 COL1A1 A>C	17	48273903	48273903	A	C	COL1A1	c.859-14T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273903A>C	(Likely) benign	1 lab	eedbaa7ba2
17:29586057 NF1 A>G	17	29586057	29586057	A	G	NF1	c.4277A>G	NM_000267.3	NP_000258.1:p.(Gln1426Arg)	NC_000017.10:g.29586057A>G	(Likely) pathogenic	1 lab	49b7e893f4
9:135801039 TSC1 G>A	9	135801039	135801039	G	A	TSC1	c.298C>T	NM_000368.4	NP_000359.1:p.(Gln100Ter)	NC_000009.11:g.135801039G>A	(Likely) pathogenic	1 lab	49b87c8ef9
18:44137416 LOXHD1 C>T	18	44137416	44137416	C	T	LOXHD1	c.3253G>A	NM_144612.6	NP_653213.6:p.(Ala1085Thr)	NC_000018.9:g.44137416C>T	VUS	1 lab	49b9ce9905
6:80198817 LCA5 A>C	6	80198817	80198817	A	C	LCA5	c.1215T>G	NM_181714.3	NP_859065.2:p.(Val405=)	NC_000006.11:g.80198817A>C	(Likely) benign	1 lab	49bb8b6e18
X:102755349 RAB40A A>C	X	102755349	102755349	A	C	RAB40A	c.336T>G	NM_080879.2	NP_543155.2:p.(Ile112Met)	NC_000023.10:g.102755349A>C	VUS	1 lab	49bc858447
3:196229723 RNF168 AACACGCCATGGTTT>A	3	196229723	196229739	AACACGCCATGGTTT	A	RNF168	c.301+7_301+20del	NM_152617.4	NP_689830.2:p.?	NC_000003.11:g.196229726_196229739del	(Likely) benign	1 lab	49bcbd4abf
16:731188 STUB1 C>T	16	731188	731188	C	T	STUB1	c.196C>T	NM_005861.3	NP_005852.2:p.(Arg66Trp)	NC_000016.9:g.731188C>T	VUS	1 lab	49bd748f35
8:6302832 MCPH1 A>T	8	6302832	6302832	A	T	MCPH1	c.1589A>T	NM_024596.4	NP_078872.2:p.(Glu530Val)	NC_000008.10:g.6302832A>T	(Likely) benign	1 lab	49bdac1dda
1:161642912 FCGR2B A>C	1	161642912	161642912	A	C	FCGR2B	c.539A>C	NM_004001.4	NP_003992.3:p.(Asn180Thr)	NC_000001.10:g.161642912A>C	(Likely) benign	1 lab	49c2b73e86
14:105409172 AHNAK2 G>C	14	105409172	105409172	G	C	AHNAK2	c.12616C>G	NM_138420.3	NP_612429.2:p.(Leu4206Val)	NC_000014.8:g.105409172G>C	(Likely) benign	1 lab	49c33a7104
X:109561031 AMMECR1 C>T	X	109561031	109561031	C	T	AMMECR1	c.269G>A	NM_015365.2	NP_056180.1:p.(Ser90Asn)	NC_000023.10:g.109561031C>T	(Likely) benign	1 lab	49c3f317e5
18:76757228 SALL3 C>T	18	76757228	76757228	C	T	SALL3	c.3809C>T	NM_171999.3	NP_741996.2:p.(Pro1270Leu)	NC_000018.9:g.76757228C>T	VUS	1 lab	49c4274506
9:139399828 NOTCH1 C>T	9	139399828	139399828	C	T	NOTCH1	c.4520G>A	NM_017617.5	NP_060087.3:p.(Ser1507Asn)	NC_000009.11:g.139399828C>T	(Likely) benign	1 lab	49c4bc1845
10:76737076 KAT6B A>G	10	76737076	76737076	A	G	KAT6B	c.1996A>G	NM_012330.4	NP_036462.2:p.(Thr666Ala)	NC_000010.10:g.76737076A>G	(Likely) benign	1 lab	eedd496f06
12:64521950 SRGAP1 C>T	12	64521950	64521950	C	T	SRGAP1	c.2850C>T	NM_020762.3	NP_065813.1:p.(His950=)	NC_000012.11:g.64521950C>T	(Likely) benign	1 lab	49c700118a
19:30936330 ZNF536 C>T	19	30936330	30936330	C	T	ZNF536	c.1861C>T	NM_001352260.1	NP_001339189.1:p.(Gln621Ter)	NC_000019.9:g.30936330C>T	VUS	1 lab	49c80a075d
16:2110793 TSC2 AC>A	16	2110793	2110794	AC	A	TSC2	c.1099del	NM_000548.5	NP_000539.2:p.(Arg367GlyfsTer22)	NC_000016.9:g.2110794del	(Likely) pathogenic	1 lab	49c86187d9
16:49671081 ZNF423 T>G	16	49671081	49671081	T	G	ZNF423	c.1802A>C	NM_001271620.2	NP_001258549.1:p.(Lys601Thr)	NC_000016.9:g.49671081T>G	VUS	1 lab	49c99e7c02
1:227174408 COQ8A C>T	1	227174408	227174408	C	T	COQ8A	c.1914C>T	NM_020247.4	NP_064632.2:p.(Ser638=)	NC_000001.10:g.227174408C>T	(Likely) benign	1 lab	49ca045ecc
4:144621026 FREM3 A>G	4	144621026	144621026	A	G	FREM3	c.803T>C	NM_001168235.1	NP_001161707.1:p.(Met268Thr)	NC_000004.11:g.144621026A>G	(Likely) benign	1 lab	49cb2ee1df
11:89820192 UBTFL1 C>A	11	89820192	89820192	C	A	UBTFL1	c.1075C>A	NM_001143975.1	NP_001137447.1:p.(His359Asn)	NC_000011.9:g.89820192C>A	(Likely) benign	1 lab	49cd2840a2
2:179428334 TTN G>A	2	179428334	179428334	G	A	TTN	c.82525C>T	NM_001267550.1	NP_001254479.1:p.(Arg27509Ter)	NC_000002.11:g.179428334G>A	(Likely) pathogenic	1 lab	49cece9147
19:6496000 TUBB4A C>T	19	6496000	6496000	C	T	TUBB4A	c.510G>A	NM_006087.4	NP_006078.2:p.(Val170=)	NC_000019.9:g.6496000C>T	(Likely) benign	1 lab	49d070681c
17:76526587 DNAH17 G>T	17	76526587	76526587	G	T	DNAH17	c.3122C>A	NM_173628.3	NP_775899.3:p.(Ser1041Tyr)	NC_000017.10:g.76526587G>T	VUS	1 lab	49d1512e7f
21:44486408 CBS G>A	21	44486408	44486408	G	A	CBS	c.81C>T	NM_001321072.1	NP_001308001.1:p.(Arg27=)	NC_000021.8:g.44486408G>A	(Likely) benign	1 lab	49d2427281
16:2131702 TSC2 G>A	16	2131702	2131702	G	A	TSC2	c.3717G>A	NM_000548.3	NP_000539.2:p.(Glu1239=)	NC_000016.9:g.2131702G>A	(Likely) benign	1 lab	49d2d7989a
11:121447999 SORL1 A>G	11	121447999	121447999	A	G	SORL1	c.3470A>G	NM_003105.5	NP_003096.1:p.(Gln1157Arg)	NC_000011.9:g.121447999A>G	VUS	1 lab	49d3874e8f
X:73960039 NEXMIF T>C	X	73960039	73960039	T	C	NEXMIF	c.4353A>G	NM_001008537.2	NP_001008537.1:p.(Lys1451=)	NC_000023.10:g.73960039T>C	(Likely) benign	1 lab	49d5bc10d0
12:49435118 KMT2D C>G	12	49435118	49435118	C	G	KMT2D	c.6435G>C	NM_003482.3	NP_003473.3:p.(Pro2145=)	NC_000012.11:g.49435118C>G	(Likely) benign	1 lab	49d5ebbf72
X:148038042 AFF2 C>G	X	148038042	148038042	C	G	AFF2	c.2467C>G	NM_002025.3	NP_002016.2:p.(Pro823Ala)	NC_000023.10:g.148038042C>G	(Likely) benign	1 lab	49d6275cef
1:226109270 PYCR2 G>A	1	226109270	226109270	G	A	PYCR2	c.615C>T	NM_013328.3	NP_037460.2:p.(Leu205=)	NC_000001.10:g.226109270G>A	(Likely) benign	1 lab	49d6a43442
2:26680920 OTOF G>A	2	26680920	26680920	G	A	OTOF	c.5982C>T	NM_001287489.1	NP_001274418.1:p.(Leu1994=)	NC_000002.11:g.26680920G>A	(Likely) benign	1 lab	49d7628c9c
X:70608232 TAF1 G>A	X	70608232	70608232	G	A	TAF1	c.2629+4G>A	NM_001286074.1	NP_001273003.1:p.?	NC_000023.10:g.70608232G>A	VUS	1 lab	49d7768988
19:50775934 MYH14 A>G	19	50775934	50775934	A	G	MYH14	c.3413A>G	NM_001145809.1	NP_001139281.1:p.(Glu1138Gly)	NC_000019.9:g.50775934A>G	VUS	1 lab	49d8c0265f
11:71725797 NUMA1 G>A	11	71725797	71725797	G	A	NUMA1	c.2752C>T	NM_001286561.1	NP_001273490.1:p.(Arg918Cys)	NC_000011.9:g.71725797G>A	(Likely) benign	1 lab	49d8e2cf32
2:179412425 TTN C>A	2	179412425	179412425	C	A	TTN	c.93928G>T	NM_001267550.2	NP_001254479.2:p.(Gly31310Cys)	NC_000002.11:g.179412425C>A	VUS	1 lab	eee32854d4
8:145002128 PLEC G>A	8	145002128	145002128	G	A	PLEC	c.3704C>T	NM_201380.3	NP_958782.1:p.(Thr1235Met)	NC_000008.10:g.145002128G>A	VUS	1 lab	49d9eea4b8
10:103990749 PITX3 T>C	10	103990749	103990749	T	C	PITX3	c.431A>G	NM_005029.3	NP_005020.1:p.(Tyr144Cys)	NC_000010.10:g.103990749T>C	VUS	1 lab	49d9fd572d
4:15518357 CC2D2A A>C	4	15518357	15518357	A	C	CC2D2A	c.1127A>C	NM_001080522.2	NP_001073991.2:p.(Glu376Ala)	NC_000004.11:g.15518357A>C	(Likely) benign	1 lab	49dbd3ea4d
1:235618930 B3GALNT2 T>C	1	235618930	235618930	T	C	B3GALNT2	c.1092A>G	NM_152490.4	NP_689703.1:p.(Glu364=)	NC_000001.10:g.235618930T>C	(Likely) benign	1 lab	49dc9955a1
19:10305565 DNMT1 C>T	19	10305565	10305565	C	T	DNMT1	c.11G>A	NM_001379.3	NP_001370.1:p.(Arg4His)	NC_000019.9:g.10305565C>T	VUS	1 lab	49ddd63ae6
2:166909425 SCN1A T>C	2	166909425	166909425	T	C	SCN1A	c.631A>G	NM_001165963.4	NP_001159435.1:p.(Asn211Asp)	NC_000002.11:g.166909425T>C	(Likely) pathogenic	1 lab	eee880140b
17:73738426 ITGB4 G>A	17	73738426	73738426	G	A	ITGB4	c.2638G>A	NM_000213.4	NP_000204.3:p.(Asp880Asn)	NC_000017.10:g.73738426G>A	(Likely) benign	1 lab	49e1150290
13:103287995 TPP2 C>T	13	103287995	103287995	C	T	TPP2	c.1452C>T	NM_003291.4	NP_003282.2:p.(Asn484=)	NC_000013.10:g.103287995C>T	(Likely) benign	1 lab	49e22ed3f4
15:48812895 FBN1 C>T	15	48812895	48812895	C	T	FBN1	c.1108G>A	NM_000138.4	NP_000129.3:p.(Val370Ile)	NC_000015.9:g.48812895C>T	(Likely) benign	1 lab	49e3e09a7c
7:100676355 MUC17 C>T	7	100676355	100676355	C	T	MUC17	c.1658C>T	NM_001040105.1	NP_001035194.1:p.(Thr553Ile)	NC_000007.13:g.100676355C>T	(Likely) benign	1 lab	49e3ec558a
15:87089366 AGBL1 T>C	15	87089366	87089366	T	C	AGBL1	c.2817+2T>C	NM_152336.3	NP_689549.3:p.?	NC_000015.9:g.87089366T>C	VUS	1 lab	49e41915c4
11:89774302 TRIM49C C>T	11	89774302	89774302	C	T	TRIM49C	c.943C>T	NM_001195234.1	NP_001182163.1:p.(His315Tyr)	NC_000011.9:g.89774302C>T	(Likely) benign	1 lab	49e4371242
3:180688033 FXR1 A>C	3	180688033	180688033	A	C	FXR1	c.1235A>C	NM_001013439.2	NP_001013457.1:p.(His412Pro)	NC_000003.11:g.180688033A>C	VUS	1 lab	49e564d135
7:73470748 ELN C>T	7	73470748	73470748	C	T	ELN	c.1298C>T	NM_001278939.2	NP_001265868.1:p.(Pro433Leu)	NC_000007.13:g.73470748C>T	VUS	1 lab	eeeafef07c
5:1279484 TERT G>A	5	1279484	1279484	G	A	TERT	c.2052C>T	NM_198253.2	NP_937983.2:p.(Asp684=)	NC_000005.9:g.1279484G>A	(Likely) benign	1 lab	49eae16eea
2:179428916 TTN C>G	2	179428916	179428916	C	G	TTN	c.81943G>C	NM_001267550.1	NP_001254479.1:p.(Glu27315Gln)	NC_000002.11:g.179428916C>G	VUS	1 lab	49ebaab18f
15:66727445 MAP2K1 T>C	15	66727445	66727445	T	C	MAP2K1	c.161T>C	NM_002755.3	NP_002746.1:p.(Leu54Pro)	NC_000015.9:g.66727445T>C	VUS	1 lab	49ec4dbf92
4:103553372 MANBA CA>C	4	103553372	103553375	CA	C	MANBA	c.2481del	NM_005908.4	NP_005899.3:p.(Phe827LeufsTer6)	NC_000004.11:g.103553375del	VUS	1 lab	49ed1c45e4
19:45918201 ERCC1 C>T	19	45918201	45918201	C	T	ERCC1	c.620G>A	NM_001983.3	NP_001974.1:p.(Arg207Gln)	NC_000019.9:g.45918201C>T	VUS	1 lab	49ee32e419
16:4848585 ROGDI G>A	16	4848585	4848585	G	A	ROGDI	c.516C>T	NM_024589.2	NP_078865.1:p.(Ala172=)	NC_000016.9:g.4848585G>A	(Likely) benign	1 lab	49ee3c6e96
X:100652799 GLA AAAGT>A	X	100652799	100652807	AAAGT	A	GLA	c.1284_1287del	NM_000169.3	NP_000160.1:p.(Leu428PhefsTer?)	NC_000023.10:g.100652804_100652807del	(Likely) pathogenic	1 lab	49eeec2b66
8:145004105 PLEC G>A	8	145004105	145004105	G	A	PLEC	c.3149C>T	NM_201380.3	NP_958782.1:p.(Thr1050Met)	NC_000008.10:g.145004105G>A	VUS	1 lab	49f0849390
14:91804430 CCDC88C G>A	14	91804430	91804430	G	A	CCDC88C	c.969C>T	NM_001080414.3	NP_001073883.2:p.(Asn323=)	NC_000014.8:g.91804430G>A	(Likely) benign	1 lab	49f54907b2
11:17801109 KCNC1 G>A	11	17801109	17801109	G	A	KCNC1	c.1611G>A	NM_001112741.1	NP_001106212.1:p.(Ser537=)	NC_000011.9:g.17801109G>A	(Likely) benign	1 lab	49f59a2812
6:2954942 SERPINB6 G>T	6	2954942	2954942	G	T	SERPINB6	c.326C>A	NM_001195291.2	NP_001182220.2:p.(Ser109Tyr)	NC_000006.11:g.2954942G>T	VUS	1 lab	49f9515558
2:179439134 TTN T>C	2	179439134	179439134	T	C	TTN	c.71725A>G	NM_001267550.2	NP_001254479.2:p.(Lys23909Glu)	NC_000002.11:g.179439134T>C	VUS	1 lab	eeeca6a22c
5:94845342 SKIC3 G>A	5	94845342	94845342	G	A	SKIC3	c.2970C>T	NM_014639.3	NP_055454.1:p.(Asn990=)	NC_000005.9:g.94845342G>A	(Likely) benign	1 lab	49fae7ad6d
X:107097865 MID2 C>T	X	107097865	107097865	C	T	MID2	c.747C>T	NM_012216.3	NP_036348.2:p.(Asn249=)	NC_000023.10:g.107097865C>T	(Likely) benign	1 lab	49fc6dd09b
21:34038789 SYNJ1 C>T	21	34038789	34038789	C	T	SYNJ1	c.2023G>A	NM_203446.2	NP_982271.2:p.(Val675Ile)	NC_000021.8:g.34038789C>T	(Likely) benign	1 lab	49fc76b631
6:31933753 SKIC2 G>A	6	31933753	31933753	G	A	SKIC2	c.2165G>A	NM_006929.4	NP_008860.4:p.(Arg722Gln)	NC_000006.11:g.31933753G>A	VUS	1 lab	49fcbc1f43
X:134995025 SAGE1 T>G	X	134995025	134995025	T	G	SAGE1	c.2684T>G	NM_018666.2	NP_061136.2:p.(Leu895Arg)	NC_000023.10:g.134995025T>G	(Likely) benign	1 lab	49fdd5c306
2:33614340 LTBP1 A>G	2	33614340	33614340	A	G	LTBP1	c.4801A>G	NM_206943.3	NP_996826.2:p.(Thr1601Ala)	NC_000002.11:g.33614340A>G	(Likely) benign	1 lab	49ff372f16
5:112176523 APC A>G	5	112176523	112176523	A	G	APC	c.5232A>G	NM_001127510.3	NP_001120982.1:p.(Lys1744=)	NC_000005.9:g.112176523A>G	(Likely) benign	1 lab	eeef1079c3
16:50344691 ADCY7 C>T	16	50344691	50344691	C	T	ADCY7	c.2254C>T	NM_001114.4	NP_001105.1:p.(Leu752=)	NC_000016.9:g.50344691C>T	(Likely) benign	1 lab	49ffb0ce2c
10:73558927 CDH23 G>A	10	73558927	73558927	G	A	CDH23	c.7114G>A	NM_022124.5	NP_071407.4:p.(Val2372Met)	NC_000010.10:g.73558927G>A	VUS	1 lab	4a00189355
2:128247405 IWS1 T>C	2	128247405	128247405	T	C	IWS1	c.2159+3A>G	NM_017969.3	NP_060439.2:p.?	NC_000002.11:g.128247405T>C	VUS	1 lab	4a019596b7
7:86554877 ELAPOR2 T>C	7	86554877	86554877	T	C	ELAPOR2	c.1366A>G	NM_001142749.3	NP_001136221.1:p.(Asn456Asp)	NC_000007.13:g.86554877T>C	VUS	1 lab	4a02871d19
19:38960131 RYR1 C>T	19	38960131	38960131	C	T	RYR1	c.3743C>T	NM_000540.3	NP_000531.2:p.(Pro1248Leu)	NC_000019.9:g.38960131C>T	VUS	1 lab	eeef127a3b
11:26465332 ANO3 A>C	11	26465332	26465332	A	C	ANO3	c.445A>C	NM_001313726.1	NP_001300655.1:p.(Asn149His)	NC_000011.9:g.26465332A>C	(Likely) benign	1 lab	4a0479961f
6:110110854 FIG4 A>G	6	110110854	110110854	A	G	FIG4	c.2154A>G	NM_014845.5	NP_055660.1:p.(Pro718=)	NC_000006.11:g.110110854A>G	(Likely) benign	1 lab	4a0535335c
13:33344455 PDS5B T>C	13	33344455	33344455	T	C	PDS5B	c.3821T>C	NM_015032.3	NP_055847.1:p.(Ile1274Thr)	NC_000013.10:g.33344455T>C	(Likely) benign	1 lab	4a077a0dcc
4:106614595 INTS12 A>G	4	106614595	106614595	A	G	INTS12	c.358T>C	NM_020395.4	NP_065128.2:p.(Leu120=)	NC_000004.11:g.106614595A>G	(Likely) benign	1 lab	4a089cbb62
1:54060514 GLIS1 T>C	1	54060514	54060514	T	C	GLIS1	c.62A>G	NM_147193.2	NP_671726.2:p.(His21Arg)	NC_000001.10:g.54060514T>C	(Likely) benign	1 lab	4a091e5cd4
3:58110100 FLNB C>T	3	58110100	58110100	C	T	FLNB	c.3766C>T	NM_001164317.1	NP_001157789.1:p.(Arg1256Trp)	NC_000003.11:g.58110100C>T	VUS	1 lab	4a09f36034
13:111090909 COL4A2 T>C	13	111090909	111090909	T	C	COL4A2	c.862-56T>C	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111090909T>C	(Likely) benign	1 lab	eeef667aa4
X:153046761 SRPK3 C>T	X	153046761	153046761	C	T	SRPK3	c.150C>T	NM_014370.3	NP_055185.2:p.(Ser50=)	NC_000023.10:g.153046761C>T	(Likely) benign	1 lab	4a0d9479a9
7:151932893 KMT2C A>C	7	151932893	151932893	A	C	KMT2C	c.2769+9T>G	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151932893A>C	(Likely) benign	1 lab	4a0db181c4
9:141006876 CACNA1B G>A	9	141006876	141006876	G	A	CACNA1B	c.5455G>A	NM_000718.3	NP_000709.1:p.(Ala1819Thr)	NC_000009.11:g.141006876G>A	VUS	1 lab	4a0e43991e
13:32972212 BRCA2 TA>G	13	32972212	32972213	TA	G	BRCA2	c.9649-87_9649-86delinsG	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972212_32972213delinsG	(Likely) benign	1 lab	4a0ef802dc
1:155207993 GBA1 A>G	1	155207993	155207993	A	G	GBA1	c.693T>C	NM_001005741.2	NP_001005741.1:p.(Asn231=)	NC_000001.10:g.155207993A>G	(Likely) benign	1 lab	4a0f093ea2
1:234744205 IRF2BP2 C>A	1	234744205	234744205	C	A	IRF2BP2	c.1036G>T	NM_182972.2	NP_892017.2:p.(Gly346Trp)	NC_000001.10:g.234744205C>A	VUS	1 lab	4a0fe600a7
8:144990516 PLEC G>A	8	144990516	144990516	G	A	PLEC	c.13884C>T	NM_201380.3	NP_958782.1:p.(Thr4628=)	NC_000008.10:g.144990516G>A	(Likely) benign	1 lab	4a115872ff
11:6631016 ILK C>T	11	6631016	6631016	C	T	ILK	c.918C>T	NM_004517.2	NP_004508.1:p.(Ala306=)	NC_000011.9:g.6631016C>T	(Likely) benign	1 lab	4a133e8d8f
15:49059593 CEP152 T>TC	15	49059593	49059594	T	TC	CEP152	c.2085_2086insG	NM_001194998.1	NP_001181927.1:p.(Lys696GlufsTer11)	NC_000015.9:g.49059593_49059594insC	(Likely) pathogenic	1 lab	4a180a20d9
2:55870529 PNPT1 C>T	2	55870529	55870529	C	T	PNPT1	c.1938G>A	NM_033109.4	NP_149100.2:p.(Thr646=)	NC_000002.11:g.55870529C>T	(Likely) benign	1 lab	4a185de817
X:10176422 CLCN4 C>G	X	10176422	10176422	C	G	CLCN4	c.1181C>G	NM_001830.3	NP_001821.2:p.(Thr394Ser)	NC_000023.10:g.10176422C>G	(Likely) benign	1 lab	4a19234736
3:49158984 LAMB2 C>T	3	49158984	49158984	C	T	LAMB2	c.5142G>A	NM_002292.3	NP_002283.3:p.(Lys1714=)	NC_000003.11:g.49158984C>T	(Likely) benign	1 lab	4a19df9888
15:43910121 STRC C>T	15	43910121	43910121	C	T	STRC	c.498G>A	NM_153700.2	NP_714544.1:p.(Pro166=)	NC_000015.9:g.43910121C>T	(Likely) benign	1 lab	4a1ac42636
15:87531320 AGBL1 G>GT	15	87531320	87531321	G	GT	AGBL1	c.3323+2dup	NM_152336.3	NP_689549.3:p.?	NC_000015.9:g.87531321dup	(Likely) pathogenic	1 lab	4a1c21d47e
6:167343082 RNASET2 C>T	6	167343082	167343082	C	T	RNASET2				NC_000006.11:g.167343082C>T	(Likely) benign	1 lab	4a1c462962
1:47737769 STIL C>T	1	47737769	47737769	C	T	STIL	c.2362G>A	NM_001048166.1	NP_001041631.1:p.(Val788Ile)	NC_000001.10:g.47737769C>T	VUS	1 lab	4a1c7640ac
9:140917856 CACNA1B G>GCCGCAC	9	140917856	140917863	G	GCCGCAC	CACNA1B	c.2663_2668dup	NM_000718.3	NP_000709.1:p.(Pro888_His889dup)	NC_000009.11:g.140917858_140917863dup	VUS	1 lab	4a1cdc0ee8
17:29586148 NF1 G>A	17	29586148	29586148	G	A	NF1	c.4367+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29586148G>A	(Likely) pathogenic	1 lab	4a1d1beaf2
4:146651099 C4orf51 G>A	4	146651099	146651099	G	A	C4orf51	c.483G>A	NM_001080531.2	NP_001074000.1:p.(Gly161=)	NC_000004.11:g.146651099G>A	(Likely) benign	1 lab	4a1dcf9a60
X:136648956 ZIC3 G>C	X	136648956	136648956	G	C	ZIC3	c.106G>C	NM_003413.3	NP_003404.1:p.(Gly36Arg)	NC_000023.10:g.136648956G>C	VUS	1 lab	4a1e91cbb9
22:34046410 LARGE1 G>A	22	34046410	34046410	G	A	LARGE1	c.351C>T	NM_004737.5	NP_004728.1:p.(Gly117=)	NC_000022.10:g.34046410G>A	VUS	1 lab	4a1f85838c
9:98248051 PTCH1 G>T	9	98248051	98248051	G	T	PTCH1	c.302C>A	NM_001083602.1	NP_001077071.1:p.(Ala101Asp)	NC_000009.11:g.98248051G>T	VUS	1 lab	4a200a886c
3:119526144 NR1I2 A>T	3	119526144	119526144	A	T	NR1I2	c.47A>T	NM_003889.3	NP_003880.3:p.(His16Leu)	NC_000003.11:g.119526144A>T	(Likely) benign	1 lab	4a20182fbb
16:14540824 PARN A>C	16	14540824	14540824	A	C	PARN	c.1785T>G	NM_002582.4	NP_002573.1:p.(Asp595Glu)	NC_000016.9:g.14540824A>C	(Likely) benign	1 lab	4a20522a73
5:14461301 TRIO G>A	5	14461301	14461301	G	A	TRIO	c.5377G>A	NM_007118.3	NP_009049.2:p.(Val1793Met)	NC_000005.9:g.14461301G>A	VUS	1 lab	4a21663e8e
17:29560236 NF1 G>C	17	29560236	29560236	G	C	NF1	c.3708+5G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29560236G>C	VUS	1 lab	4a2222aac7
11:59282637 OR4D9 T>A	11	59282637	59282637	T	A	OR4D9	c.252T>A	NM_001004711.1	NP_001004711.1:p.(Asp84Glu)	NC_000011.9:g.59282637T>A	VUS	1 lab	4a22453c99
19:56206665 EPN1 GC>G	19	56206665	56206671	GC	G	EPN1	c.1680del	NM_001130072.2	NP_001123544.1:p.(Met561Ter)	NC_000019.9:g.56206671del	VUS	1 lab	4a22902cc6
17:29664523 NF1 CCTGGCTCCTATGAG>C	17	29664523	29664537	CCTGGCTCCTATGAG	C	NF1	c.6566_6579del	NM_001042492.3	NP_001035957.1:p.(Pro2189GlnfsTer48)	NC_000017.10:g.29664524_29664537del	(Likely) pathogenic	1 lab	4a274dd4d2
12:6441133 TNFRSF1A T>C	12	6441133	6441133	T	C	TNFRSF1A	c.1A>G	NM_001346092.2	NP_001333021.1:p.(Met1?)	NC_000012.11:g.6441133T>C	VUS	1 lab	eef8f5e1d5
11:76371063 LRRC32 C>T	11	76371063	76371063	C	T	LRRC32	c.1574G>A	NM_005512.2	NP_005503.1:p.(Arg525His)	NC_000011.9:g.76371063C>T	VUS	1 lab	4a281b2e27
1:7797627 CAMTA1 C>G	1	7797627	7797627	C	G	CAMTA1	c.3655C>G	NM_015215.3	NP_056030.1:p.(Pro1219Ala)	NC_000001.10:g.7797627C>G	(Likely) benign	1 lab	4a2905721b
17:29560092 NF1 G>A	17	29560092	29560092	G	A	NF1	c.3569G>A	NM_000267.3	NP_000258.1:p.(Gly1190Asp)	NC_000017.10:g.29560092G>A	(Likely) pathogenic	1 lab	4a29d685a2
20:2376038 TGM6 G>A	20	2376038	2376038	G	A	TGM6	c.380G>A	NM_198994.2	NP_945345.2:p.(Arg127Gln)	NC_000020.10:g.2376038G>A	(Likely) benign	1 lab	4a2ae18c28
17:41246025 BRCA1 G>A	17	41246025	41246025	G	A	BRCA1	c.1523C>T	NM_007294.3	NP_009225.1:p.(Pro508Leu)	NC_000017.10:g.41246025G>A	(Likely) benign	1 lab	4a2bc41e56
2:196822134 DNAH7 G>C	2	196822134	196822134	G	C	DNAH7	c.2929C>G	NM_018897.3	NP_061720.2:p.(Leu977Val)	NC_000002.11:g.196822134G>C	VUS	1 lab	4a2bda6366
2:233399059 CHRND G>T	2	233399059	233399059	G	T	CHRND	c.1371+7G>T	NM_000751.2	NP_000742.1:p.?	NC_000002.11:g.233399059G>T	(Likely) benign	1 lab	4a2bf6472f
10:21906135 MLLT10 A>G	10	21906135	21906135	A	G	MLLT10	c.698A>G	NM_004641.3	NP_004632.1:p.(Lys233Arg)	NC_000010.10:g.21906135A>G	(Likely) benign	1 lab	4a2cc8454b
20:62293889 RTEL1 C>T	20	62293889	62293889	C	T	RTEL1	c.458C>T	NM_032957.4	NP_116575.3:p.(Ser153Phe)	NC_000020.10:g.62293889C>T	VUS	1 lab	4a2d0b56b0
X:118223149 KIAA1210 C>A	X	118223149	118223149	C	A	KIAA1210	c.2044G>T	NM_020721.1	NP_065772.1:p.(Glu682Ter)	NC_000023.10:g.118223149C>A	VUS	1 lab	4a2d479a7b
17:29667550 NF1 T>C	17	29667550	29667550	T	C	NF1	c.6886T>C	NM_000267.3	NP_000258.1:p.(Trp2296Arg)	NC_000017.10:g.29667550T>C	VUS	1 lab	4a2d532592
X:47775309 ZNF81 G>A	X	47775309	47775309	G	A	ZNF81	c.1264G>A	NM_007137.5	NP_009068.2:p.(Ala422Thr)	NC_000023.10:g.47775309G>A	VUS	1 lab	eefc42fef4
X:8138148 VCX2 A>T	X	8138148	8138148	A	T	VCX2	c.345T>A	NM_016378.3	NP_057462.2:p.(Ser115Arg)	NC_000023.10:g.8138148A>T	VUS	1 lab	4a2eea94df
11:62156674 ASRGL1 C>T	11	62156674	62156674	C	T	ASRGL1	c.561C>T	NM_025080.3	NP_079356.3:p.(Gly187=)	NC_000011.9:g.62156674C>T	(Likely) benign	1 lab	4a2f015f8e
X:43698134 MAOB G>A	X	43698134	43698134	G	A	MAOB	c.259C>T	NM_000898.4	NP_000889.3:p.(Arg87Cys)	NC_000023.10:g.43698134G>A	VUS	1 lab	4a306979d6
3:53699820 CACNA1D A>G	3	53699820	53699820	A	G	CACNA1D	c.900A>G	NM_000720.3	NP_000711.1:p.(Thr300=)	NC_000003.11:g.53699820A>G	(Likely) benign	1 lab	4a30ce839a
17:61432192 TANC2 G>A	17	61432192	61432192	G	A	TANC2	c.1801G>A	NM_025185.4	NP_079461.2:p.(Glu601Lys)	NC_000017.10:g.61432192G>A	VUS	1 lab	ef00a519b5
5:70811985 BDP1 A>G	5	70811985	70811985	A	G	BDP1	c.4747A>G	NM_018429.2	NP_060899.2:p.(Ile1583Val)	NC_000005.9:g.70811985A>G	VUS	1 lab	4a32c0e19d
2:48026881 MSH6 G>C	2	48026881	48026881	G	C	MSH6	c.1759G>C	NM_000179.2	NP_000170.1:p.(Ala587Pro)	NC_000002.11:g.48026881G>C	VUS	1 lab	4a34383199
17:5461781 NLRP1 T>C	17	5461781	5461781	T	C	NLRP1	c.2235A>G	NM_033004.4	NP_127497.1:p.(Val745=)	NC_000017.10:g.5461781T>C	(Likely) benign	1 lab	4a349c52de
12:58180857 TSFM TA>T	12	58180857	58180861	TA	T	TSFM	c.399del	NM_005726.6	NP_005717.3:p.(Lys133AsnfsTer9)	NC_000012.11:g.58180861del	(Likely) pathogenic	1 lab	4a34f2086a
12:133312024 ANKLE2 C>T	12	133312024	133312024	C	T	ANKLE2	c.1668G>A	NM_015114.2	NP_055929.1:p.(Ser556=)	NC_000012.11:g.133312024C>T	(Likely) benign	1 lab	4a35475d51
6:30865270 DDR1 G>A	6	30865270	30865270	G	A	DDR1	c.2001G>A	NM_001297652.1	NP_001284581.1:p.(Met667Ile)	NC_000006.11:g.30865270G>A	VUS	1 lab	4a35c1cff6
11:26484611 ANO3 A>G	11	26484611	26484611	A	G	ANO3	c.531A>G	NM_001313726.1	NP_001300655.1:p.(Ser177=)	NC_000011.9:g.26484611A>G	(Likely) benign	1 lab	4a35f56c58
X:32429901 DMD C>T	X	32429901	32429901	C	T	DMD	c.3832G>A	NM_004010.3	NP_004001.1:p.(Val1278Met)	NC_000023.10:g.32429901C>T	VUS	1 lab	4a37bf282c
19:54973325 MISSING C>T	19	54973325	54973325	C	T	MISSING				NC_000019.9:g.54973325C>T	(Likely) benign	1 lab	cb2d8c886d
X:110980018 ALG13 C>T	X	110980018	110980018	C	T	ALG13	c.2372C>T	NM_001257231.1	NP_001244160.1:p.(Ala791Val)	NC_000023.10:g.110980018C>T	(Likely) benign	1 lab	4a39f2699b
3:47883161 DHX30 G>C	3	47883161	47883161	G	C	DHX30	c.639G>C	NM_001330990.2	NP_001317919.1:p.(Gln213His)	NC_000003.11:g.47883161G>C	VUS	1 lab	ef030ca095
8:38273534 FGFR1 G>A	8	38273534	38273534	G	A	FGFR1	c.1678C>T	NM_001174064.1	NP_001167535.1:p.(Arg560Trp)	NC_000008.10:g.38273534G>A	VUS	1 lab	4a3ad11356
1:154569444 ADAR C>G	1	154569444	154569444	C	G	ADAR	c.1222G>C	NM_001193495.2	NP_001180424.1:p.(Asp408His)	NC_000001.10:g.154569444C>G	(Likely) benign	1 lab	4a3b80492d
18:53255701 TCF4 C>T	18	53255701	53255701	C	T	TCF4	c.66G>A	NM_001243230.1	NP_001230159.1:p.(Glu22=)	NC_000018.9:g.53255701C>T	(Likely) benign	1 lab	4a3c6f66e3
12:65857067 MSRB3 G>A	12	65857067	65857067	G	A	MSRB3	c.523G>A	NM_001193460.1	NP_001180389.1:p.(Ala175Thr)	NC_000012.11:g.65857067G>A	(Likely) benign	1 lab	4a3d7dc227
22:51063806 ARSA G>C	22	51063806	51063806	G	C	ARSA	c.1297C>G	NM_000487.5	NP_000478.3:p.(Leu433Val)	NC_000022.10:g.51063806G>C	VUS	1 lab	4a3dba18ff
12:40637411 LRRK2 G>A	12	40637411	40637411	G	A	LRRK2	c.766G>A	NM_198578.3	NP_940980.3:p.(Ala256Thr)	NC_000012.11:g.40637411G>A	VUS	1 lab	4a3e90bec8
1:200948813 KIF21B G>A	1	200948813	200948813	G	A	KIF21B	c.4010C>T	NM_001252100.1	NP_001239029.1:p.(Thr1337Met)	NC_000001.10:g.200948813G>A	VUS	1 lab	4a403b841e
18:56204250 ALPK2 A>C	18	56204250	56204250	A	C	ALPK2	c.3169T>G	NM_052947.4	NP_443179.3:p.(Leu1057Val)	NC_000018.9:g.56204250A>C	(Likely) benign	1 lab	4a438afc91
1:228509408 OBSCN C>T	1	228509408	228509408	C	T	OBSCN	c.17737C>T	NM_001271223.2	NP_001258152.2:p.(Leu5913=)	NC_000001.10:g.228509408C>T	(Likely) benign	1 lab	4a443b4b8b
X:73961338 NEXMIF G>A	X	73961338	73961338	G	A	NEXMIF	c.3054C>T	NM_001008537.2	NP_001008537.1:p.(Gly1018=)	NC_000023.10:g.73961338G>A	(Likely) benign	1 lab	4a44c92daf
1:235955271 LYST C>T	1	235955271	235955271	C	T	LYST	c.4271G>A	NM_001301365.1	NP_001288294.1:p.(Gly1424Asp)	NC_000001.10:g.235955271C>T	VUS	1 lab	4a4535c426
4:41259742 UCHL1 C>G	4	41259742	41259742	C	G	UCHL1	c.162C>G	NM_004181.4	NP_004172.2:p.(Pro54=)	NC_000004.11:g.41259742C>G	(Likely) benign	1 lab	4a46218fa9
19:13320119 CACNA1A T>C	19	13320119	13320119	T	C	CACNA1A	c.6544+7A>G	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13320119T>C	(Likely) benign	1 lab	4a464f12cf
2:62054266 FAM161A G>C	2	62054266	62054266	G	C	FAM161A	c.1979C>G	NM_001201543.1	NP_001188472.1:p.(Thr660Arg)	NC_000002.11:g.62054266G>C	(Likely) benign	1 lab	4a46b095e8
19:42471817 ATP1A3 AGAG>A	19	42471817	42471821	AGAG	A	ATP1A3	c.2915_2917del	NM_152296.5	NP_689509.1:p.(Pro972del)	NC_000019.9:g.42471819_42471821del	(Likely) pathogenic	1 lab	4a47fb69a9
16:67203667 HSF4 G>A	16	67203667	67203667	G	A	HSF4	c.1458G>A	NM_001040667.2	NP_001035757.1:p.(Pro486=)	NC_000016.9:g.67203667G>A	(Likely) benign	1 lab	4a496a702b
7:47854941 PKD1L1 C>T	7	47854941	47854941	C	T	PKD1L1	c.7080G>A	NM_138295.4	NP_612152.1:p.(Pro2360=)	NC_000007.13:g.47854941C>T	(Likely) benign	1 lab	4a499da614
12:49435154 KMT2D G>A	12	49435154	49435154	G	A	KMT2D	c.6399C>T	NM_003482.3	NP_003473.3:p.(Ala2133=)	NC_000012.11:g.49435154G>A	(Likely) benign	1 lab	4a4c43d942
1:150478082 TARS2 C>T	1	150478082	150478082	C	T	TARS2	c.1909C>T	NM_025150.4	NP_079426.2:p.(Arg637Trp)	NC_000001.10:g.150478082C>T	(Likely) benign	1 lab	4a4c57dc54
11:47353640 MYBPC3 C>T	11	47353640	47353640	C	T	MYBPC3	c.3797G>A	NM_000256.3	NP_000247.2:p.(Cys1266Tyr)	NC_000011.9:g.47353640C>T	(Likely) pathogenic	1 lab	4a4ca03e2d
1:171621500 MYOC G>A	1	171621500	171621500	G	A	MYOC	c.252C>T	NM_000261.1	NP_000252.1:p.(Asp84=)	NC_000001.10:g.171621500G>A	(Likely) benign	1 lab	4a4ca8663b
22:42033758 XRCC6 G>T	22	42033758	42033758	G	T	XRCC6	c.736G>T	NM_001469.4	NP_001460.1:p.(Val246Phe)	NC_000022.10:g.42033758G>T	VUS	1 lab	4a4e71117f
7:116339971 MET T>A	7	116339971	116339971	T	A	MET	c.833T>A	NM_001127500.1	NP_001120972.1:p.(Ile278Lys)	NC_000007.13:g.116339971T>A	(Likely) benign	1 lab	4a4f08a43f
16:2090215 NTHL1 A>AT	16	2090215	2090217	A	AT	NTHL1	c.709dup	NM_002528.7	NP_002519.2:p.(Ile237AsnfsTer28)	NC_000016.9:g.2090217dup	(Likely) pathogenic	1 lab	4a4feacda2
X:11133031 HCCS C>T	X	11133031	11133031	C	T	HCCS	c.177C>T	NM_005333.5	NP_005324.3:p.(Arg59=)	NC_000023.10:g.11133031C>T	(Likely) benign	1 lab	4a50545faa
X:13607720 EGFL6 C>A	X	13607720	13607720	C	A	EGFL6	c.120C>A	NM_001167890.1	NP_001161362.1:p.(Val40=)	NC_000023.10:g.13607720C>A	VUS	1 lab	4a5119739b
3:179047508 ZNF639 A>G	3	179047508	179047508	A	G	ZNF639	c.161A>G	NM_016331.2	NP_057415.1:p.(Asp54Gly)	NC_000003.11:g.179047508A>G	(Likely) benign	1 lab	4a525b6072
7:42005961 GLI3 G>A	7	42005961	42005961	G	A	GLI3	c.2710C>T	NM_000168.5	NP_000159.3:p.(Arg904Cys)	NC_000007.13:g.42005961G>A	(Likely) pathogenic	1 lab	4a52c4d24f
9:135797220 TSC1 CA>C	9	135797220	135797224	CA	C	TSC1	c.648del	NM_000368.5	NP_000359.1:p.(Phe216LeufsTer8)	NC_000009.11:g.135797224del	(Likely) pathogenic	1 lab	4a53c50e39
21:47766660 PCNT G>A	21	47766660	47766660	G	A	PCNT	c.724G>A	NM_006031.5	NP_006022.3:p.(Val242Met)	NC_000021.8:g.47766660G>A	VUS	1 lab	4a548b2273
17:36485116 GPR179 G>A	17	36485116	36485116	G	A	GPR179	c.4336C>T	NM_001004334.3	NP_001004334.3:p.(Pro1446Ser)	NC_000017.10:g.36485116G>A	VUS	1 lab	4a54f35bf0
3:155571712 SLC33A1 C>G	3	155571712	155571712	C	G	SLC33A1	c.75G>C	NM_004733.3	NP_004724.1:p.(Met25Ile)	NC_000003.11:g.155571712C>G	(Likely) benign	1 lab	4a55640a7c
4:3318418 RGS12 C>T	4	3318418	3318418	C	T	RGS12	c.521C>T	NM_002926.3	NP_002917.1:p.(Ser174Leu)	NC_000004.11:g.3318418C>T	VUS	1 lab	4a58a7c81a
9:137619231 COL5A1 T>C	9	137619231	137619231	T	C	COL5A1	c.774T>C	NM_000093.4	NP_000084.3:p.(Asn258=)	NC_000009.11:g.137619231T>C	(Likely) benign	1 lab	4a58b5849f
5:127419647 SLC12A2 A>C	5	127419647	127419647	A	C	SLC12A2	c.1A>C	NM_001046.3	NP_001037.1:p.(Met1?)	NC_000005.9:g.127419647A>C	(Likely) pathogenic	1 lab	ef0f94c825
20:57485454 GNAS C>T	20	57485454	57485454	C	T	GNAS	c.2965C>T	NM_080425.3	NP_536350.2:p.(Leu989=)	NC_000020.10:g.57485454C>T	(Likely) benign	1 lab	4a593c110c
6:15523243 DTNBP1 T>C	6	15523243	15523243	T	C	DTNBP1	c.776A>G	NM_001271667.1	NP_001258596.1:p.(Glu259Gly)	NC_000006.11:g.15523243T>C	(Likely) benign	1 lab	4a5b7e9eb7
10:18823118 CACNB2 G>A	10	18823118	18823118	G	A	CACNB2	c.1006G>A	NM_201590.3	NP_963884.2:p.(Ala336Thr)	NC_000010.10:g.18823118G>A	VUS	1 lab	ef11a35adf
17:29554622 NF1 C>T	17	29554622	29554622	C	T	NF1	c.2407C>T	NM_000267.3	NP_000258.1:p.(Gln803Ter)	NC_000017.10:g.29554622C>T	(Likely) pathogenic	1 lab	4a5ceb4d08
7:91842644 KRIT1 C>T	7	91842644	91842644	C	T	KRIT1	c.1890G>A	NM_004912.4	NP_004903.2:p.(Trp630Ter)	NC_000007.13:g.91842644C>T	(Likely) pathogenic	1 lab	4a5e0d7028
7:97486129 ASNS C>T	7	97486129	97486129	C	T	ASNS	c.904-1G>A	NM_001352496.1	NP_001339425.1:p.?	NC_000007.13:g.97486129C>T	(Likely) pathogenic	1 lab	4a5e37920e
4:88535905 DSPP T>C	4	88535905	88535905	T	C	DSPP	c.2091T>C	NM_014208.3	NP_055023.2:p.(Asn697=)	NC_000004.11:g.88535905T>C	(Likely) benign	1 lab	4a5f223c8a
6:32037429 TNXB T>G	6	32037429	32037429	T	G	TNXB	c.5488A>C	NM_019105.6	NP_061978.6:p.(Ser1830Arg)	NC_000006.11:g.32037429T>G	(Likely) benign	1 lab	4a5f313c95
22:34046551 LARGE1 G>A	22	34046551	34046551	G	A	LARGE1	c.210C>T	NM_004737.5	NP_004728.1:p.(Arg70=)	NC_000022.10:g.34046551G>A	(Likely) benign	1 lab	4a5f749f72
14:72196852 SIPA1L1 C>G	14	72196852	72196852	C	G	SIPA1L1	c.4695C>G	NM_001284246.1	NP_001271175.1:p.(Asp1565Glu)	NC_000014.8:g.72196852C>G	VUS	1 lab	4a60c5a535
X:23689723 PRDX4 C>T	X	23689723	23689723	C	T	PRDX4	c.319C>T	NM_006406.1	NP_006397.1:p.(Arg107Cys)	NC_000023.10:g.23689723C>T	VUS	1 lab	4a612addc8
1:35227241 GJB4 G>A	1	35227241	35227241	G	A	GJB4	c.386G>A	NM_153212.3	NP_694944.1:p.(Trp129Ter)	NC_000001.10:g.35227241G>A	VUS	1 lab	4a63d50c56
19:5594077 SAFB2 C>G	19	5594077	5594077	C	G	SAFB2	c.2032G>C	NM_014649.2	NP_055464.1:p.(Glu678Gln)	NC_000019.9:g.5594077C>G	VUS	1 lab	4a64ba0bac
17:29587385 NF1 A>C	17	29587385	29587385	A	C	NF1	c.4368-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587385A>C	(Likely) pathogenic	1 lab	4a6594d164
X:50213218 DGKK T>C	X	50213218	50213218	T	C	DGKK	c.460A>G	NM_001013742.3	NP_001013764.1:p.(Thr154Ala)	NC_000023.10:g.50213218T>C	(Likely) benign	1 lab	4a68caf6ad
22:23629412 BCR C>T	22	23629412	23629412	C	T	BCR	c.2473C>T	NM_004327.4	NP_004318.3:p.(Leu825=)	NC_000022.10:g.23629412C>T	(Likely) benign	1 lab	ef13f0ee81
1:197072727 ASPM T>C	1	197072727	197072727	T	C	ASPM	c.5654A>G	NM_018136.4	NP_060606.3:p.(Tyr1885Cys)	NC_000001.10:g.197072727T>C	(Likely) benign	1 lab	4a6be3cc7b
14:24710917 TINF2 C>G	14	24710917	24710917	C	G	TINF2	c.363G>C	NM_012461.2	NP_036593.2:p.(Leu121=)	NC_000014.8:g.24710917C>G	(Likely) benign	1 lab	4a6c5441d7
17:26684902 VMA12 G>A	17	26684902	26684902	G	A	VMA12	c.209G>A	NM_152464.2	NP_689677.1:p.(Arg70Lys)	NC_000017.10:g.26684902G>A	(Likely) benign	1 lab	4a6ce4a797
14:39818128 MIA2 G>C	14	39818128	39818128	G	C	MIA2	c.4019G>C	NM_001329214.2	NP_001316143.1:p.(Arg1340Pro)	NC_000014.8:g.39818128G>C	VUS	1 lab	4a6d840bd8
X:69489530 ARR3 C>T	X	69489530	69489530	C	T	ARR3	c.27C>T	NM_004312.2	NP_004303.2:p.(Ser9=)	NC_000023.10:g.69489530C>T	(Likely) benign	1 lab	4a6def6b73
16:84494341 ATP2C2 C>T	16	84494341	84494341	C	T	ATP2C2	c.2502C>T	NM_001286527.2	NP_001273456.2:p.(Leu834=)	NC_000016.9:g.84494341C>T	(Likely) benign	1 lab	4a6e95edf2
12:103238138 PAH G>C	12	103238138	103238138	G	C	PAH	c.1041C>G	NM_000277.1	NP_000268.1:p.(Leu347=)	NC_000012.11:g.103238138G>C	(Likely) pathogenic	1 lab	4a71565d7a
12:7045286 ATN1 C>T	12	7045286	7045286	C	T	ATN1	c.856C>T	NM_001940.4	NP_001931.2:p.(Pro286Ser)	NC_000012.11:g.7045286C>T	(Likely) benign	1 lab	4a737d45d3
14:31346858 COCH C>G	14	31346858	31346858	C	G	COCH	c.358C>G	NM_001347720.1	NP_001334649.1:p.(Pro120Ala)	NC_000014.8:g.31346858C>G	VUS	1 lab	4a75b65405
2:219526966 BCS1L C>T	2	219526966	219526966	C	T	BCS1L	c.702C>T	NM_004328.4	NP_004319.1:p.(Cys234=)	NC_000002.11:g.219526966C>T	(Likely) benign	1 lab	4a77391099
16:72821618 ZFHX3 A>ACCGCCG	16	72821618	72821635	A	ACCGCCG	ZFHX3	c.10551_10556dup	NM_006885.3	NP_008816.3:p.(Gly3526_Gly3527dup)	NC_000016.9:g.72821630_72821635dup	(Likely) benign	1 lab	4a774fec9b
19:45992807 RTN2 C>T	19	45992807	45992807	C	T	RTN2	c.1038G>A	NM_005619.4	NP_005610.1:p.(Ala346=)	NC_000019.9:g.45992807C>T	(Likely) benign	1 lab	4a77717a2b
14:31349945 COCH C>T	14	31349945	31349945	C	T	COCH	c.629+5C>T	NM_001135058.1	NP_001128530.1:p.?	NC_000014.8:g.31349945C>T	(Likely) benign	1 lab	4a78461562
6:33147222 COL11A2 G>A	6	33147222	33147222	G	A	COL11A2	c.1489C>T	NM_080680.2	NP_542411.2:p.(Arg497Cys)	NC_000006.11:g.33147222G>A	VUS	1 lab	4a79cb7e83
X:92926841 NAP1L3 A>G	X	92926841	92926841	A	G	NAP1L3	c.1463T>C	NM_004538.5	NP_004529.2:p.(Val488Ala)	NC_000023.10:g.92926841A>G	(Likely) benign	1 lab	4a7a02ff15
18:6965302 LAMA1 G>A	18	6965302	6965302	G	A	LAMA1	c.7180C>T	NM_005559.3	NP_005550.2:p.(Arg2394Ter)	NC_000018.9:g.6965302G>A	(Likely) pathogenic	1 lab	4a7b450b6a
1:216380754 USH2A C>T	1	216380754	216380754	C	T	USH2A	c.3177G>A	NM_206933.2	NP_996816.2:p.(Pro1059=)	NC_000001.10:g.216380754C>T	(Likely) benign	1 lab	4a7b456d9d
11:47371567 MYBPC3 A>G	11	47371567	47371567	A	G	MYBPC3	c.503T>C	NM_000256.3	NP_000247.2:p.(Val168Ala)	NC_000011.9:g.47371567A>G	VUS	1 lab	4a7b8264c2
1:236157158 NID1 G>A	1	236157158	236157158	G	A	NID1	c.2542C>T	NM_002508.2	NP_002499.2:p.(Arg848Trp)	NC_000001.10:g.236157158G>A	VUS	1 lab	4a7bcba2e8
18:6950964 LAMA1 C>A	18	6950964	6950964	C	A	LAMA1	c.8214G>T	NM_005559.3	NP_005550.2:p.(Ser2738=)	NC_000018.9:g.6950964C>A	(Likely) benign	1 lab	4a7be89a99
6:110117975 FIG4 C>T	6	110117975	110117975	C	T	FIG4	c.2467C>T	NM_014845.5	NP_055660.1:p.(Gln823Ter)	NC_000006.11:g.110117975C>T	(Likely) pathogenic	1 lab	4a7c101339
X:69479041 P2RY4 C>T	X	69479041	69479041	C	T	P2RY4	c.434G>A	NM_002565.3	NP_002556.1:p.(Arg145His)	NC_000023.10:g.69479041C>T	(Likely) benign	1 lab	4a7c5f49bb
2:170096239 LRP2 A>G	2	170096239	170096239	A	G	LRP2	c.4092T>C	NM_004525.3	NP_004516.2:p.(Cys1364=)	NC_000002.11:g.170096239A>G	(Likely) benign	1 lab	4a7d834a7b
14:105418529 AHNAK2 G>C	14	105418529	105418529	G	C	AHNAK2	c.3259C>G	NM_138420.3	NP_612429.2:p.(Pro1087Ala)	NC_000014.8:g.105418529G>C	(Likely) benign	1 lab	4a7de9c89a
19:36224544 KMT2B G>T	19	36224544	36224544	G	T	KMT2B	c.7006G>T	NM_014727.3	NP_055542.1:p.(Asp2336Tyr)	NC_000019.9:g.36224544G>T	VUS	1 lab	ef187824a4
12:76740362 BBS10 G>A	12	76740362	76740362	G	A	BBS10	c.1403C>T	NM_024685.4	NP_078961.3:p.(Pro468Leu)	NC_000012.11:g.76740362G>A	VUS	1 lab	4a7f39463e
17:74277032 QRICH2 G>A	17	74277032	74277032	G	A	QRICH2	c.3768C>T	NM_032134.2	NP_115510.1:p.(Asp1256=)	NC_000017.10:g.74277032G>A	(Likely) benign	1 lab	4a81e557d4
11:85685823 PICALM C>T	11	85685823	85685823	C	T	PICALM	c.1872G>A	NM_007166.4	NP_009097.2:p.(Thr624=)	NC_000011.9:g.85685823C>T	(Likely) benign	1 lab	4a825eba85
X:107683401 COL4A5 G>T	X	107683401	107683401	G	T	COL4A5	c.46G>T	NM_033380.2	NP_203699.1:p.(Ala16Ser)	NC_000023.10:g.107683401G>T	(Likely) benign	1 lab	4a82f6bdc6
2:54855259 SPTBN1 G>A	2	54855259	54855259	G	A	SPTBN1	c.1670G>A	NM_003128.2	NP_003119.2:p.(Gly557Asp)	NC_000002.11:g.54855259G>A	VUS	1 lab	4a84bcdeb8
10:55591197 PCDH15 C>T	10	55591197	55591197	C	T	PCDH15	c.4080G>A	NM_001354429.1	NP_001341358.1:p.(Val1360=)	NC_000010.10:g.55591197C>T	(Likely) benign	1 lab	4a85359c4c
2:179523060 TTN A>G	2	179523060	179523060	A	G	TTN	c.37650T>C	NM_001267550.1	NP_001254479.1:p.(Val12550=)	NC_000002.11:g.179523060A>G	(Likely) benign	1 lab	4a863ff037
1:197073893 ASPM T>C	1	197073893	197073893	T	C	ASPM	c.4488A>G	NM_018136.4	NP_060606.3:p.(Lys1496=)	NC_000001.10:g.197073893T>C	(Likely) benign	1 lab	4a866a54bf
1:155330148 ASH1L C>A	1	155330148	155330148	C	A	ASH1L	c.6739G>T	NM_018489.3	NP_060959.2:p.(Ala2247Ser)	NC_000001.10:g.155330148C>A	(Likely) benign	1 lab	4a868df524
18:28648003 DSC2 G>GCT	18	28648003	28648005	G	GCT	DSC2	c.2682_2683dup	NM_024422.6	NP_077740.1:p.(Ala895GlufsTer6)	NC_000018.9:g.28648004_28648005dup	(Likely) benign	1 lab	ef19ebd160
12:27573415 BMAL2 G>T	12	27573415	27573415	G	T	BMAL2	c.1861G>T	NM_020183.4	NP_064568.3:p.(Gly621Trp)	NC_000012.11:g.27573415G>T	VUS	1 lab	4a893aace4
X:70597584 TAF1 A>C	X	70597584	70597584	A	C	TAF1	c.906A>C	NM_001286074.1	NP_001273003.1:p.(Ser302=)	NC_000023.10:g.70597584A>C	(Likely) benign	1 lab	4a896a4f8f
3:46009574 FYCO1 C>T	3	46009574	46009574	C	T	FYCO1	c.1252G>A	NM_024513.3	NP_078789.2:p.(Glu418Lys)	NC_000003.11:g.46009574C>T	VUS	1 lab	4a897db8f7
9:312003 DOCK8 C>G	9	312003	312003	C	G	DOCK8	c.578C>G	NM_203447.3	NP_982272.2:p.(Pro193Arg)	NC_000009.11:g.312003C>G	(Likely) benign	1 lab	4a899dfa94
21:46945816 SLC19A1 T>C	21	46945816	46945816	T	C	SLC19A1	c.854A>G	NM_001352510.1	NP_001339439.1:p.(Asn285Ser)	NC_000021.8:g.46945816T>C	VUS	1 lab	4a89c838f7
2:44128672 LRPPRC C>T	2	44128672	44128672	C	T	LRPPRC	c.3365-9G>A	NM_133259.3	NP_573566.2:p.?	NC_000002.11:g.44128672C>T	(Likely) benign	1 lab	4a8a4254dc
X:49834394 CLCN5 T>C	X	49834394	49834394	T	C	CLCN5	c.8T>C	NM_001282163.1	NP_001269092.1:p.(Leu3Pro)	NC_000023.10:g.49834394T>C	(Likely) benign	1 lab	4a8a92a253
7:128493010 FLNC C>T	7	128493010	128493010	C	T	FLNC	c.6133C>T	NM_001458.4	NP_001449.3:p.(Arg2045Trp)	NC_000007.13:g.128493010C>T	VUS	1 lab	4a8b4b7dd2
4:8873208 HMX1 C>G	4	8873208	8873208	C	G	HMX1	c.133G>C	NM_018942.2	NP_061815.2:p.(Glu45Gln)	NC_000004.11:g.8873208C>G	VUS	1 lab	4a8c7bd8ed
4:184606539 TRAPPC11 A>G	4	184606539	184606539	A	G	TRAPPC11	c.1745A>G	NM_021942.5	NP_068761.4:p.(Gln582Arg)	NC_000004.11:g.184606539A>G	VUS	1 lab	4a8d98c8f5
1:150530494 ADAMTSL4 C>T	1	150530494	150530494	C	T	ADAMTSL4	c.2320C>T	NM_001288608.1	NP_001275537.1:p.(Arg774Trp)	NC_000001.10:g.150530494C>T	VUS	1 lab	4a8da83bc9
X:110928319 ALG13 A>G	X	110928319	110928319	A	G	ALG13	c.137A>G	NM_001257231.1	NP_001244160.1:p.(Tyr46Cys)	NC_000023.10:g.110928319A>G	(Likely) benign	1 lab	4a8f92cca0
4:128842888 MFSD8 C>A	4	128842888	128842888	C	A	MFSD8	c.1141G>T	NM_152778.2	NP_689991.1:p.(Glu381Ter)	NC_000004.11:g.128842888C>A	(Likely) pathogenic	1 lab	4a910680a0
15:49059611 CEP152 G>A	15	49059611	49059611	G	A	CEP152	c.2068C>T	NM_001194998.1	NP_001181927.1:p.(Arg690Cys)	NC_000015.9:g.49059611G>A	VUS	1 lab	4a924952f7
19:24309361 ZNF254 C>T	19	24309361	24309361	C	T	ZNF254	c.436C>T	NM_001278677.1	NP_001265606.1:p.(Arg146Cys)	NC_000019.9:g.24309361C>T	(Likely) benign	1 lab	4a93b75a17
9:135782143 TSC1 A>G	9	135782143	135782143	A	G	TSC1	c.1413T>C	NM_000368.4	NP_000359.1:p.(Asp471=)	NC_000009.11:g.135782143A>G	(Likely) benign	1 lab	4a94b71da0
3:27758554 EOMES T>C	3	27758554	27758554	T	C	EOMES	c.*7A>G	NM_005442.3	NP_005433.2:p.?	NC_000003.11:g.27758554T>C	(Likely) benign	1 lab	4a95c812f4
9:69385996 ANKRD20A4P A>G	9	69385996	69385996	A	G	ANKRD20A4P	c.433A>G	NM_001098805.1	NP_001092275.1:p.(Ser145Gly)	NC_000009.11:g.69385996A>G	(Likely) benign	1 lab	4a96aa7427
13:111137245 COL4A2 C>T	13	111137245	111137245	C	T	COL4A2	c.2903-7C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111137245C>T	(Likely) benign	1 lab	4a97f4636c
16:54967266 IRX5 C>G	16	54967266	54967266	C	G	IRX5	c.933C>G	NM_005853.5	NP_005844.4:p.(Pro311=)	NC_000016.9:g.54967266C>G	(Likely) benign	1 lab	4a983662f7
19:8971759 MUC16 T>C	19	8971759	8971759	T	C	MUC16	c.42833A>G	NM_024690.2	NP_078966.2:p.(Glu14278Gly)	NC_000019.9:g.8971759T>C	VUS	1 lab	4a9855c325
X:66943527 AR G>T	X	66943527	66943527	G	T	AR	c.2608-1G>T	NM_000044.4	NP_000035.2:p.?	NC_000023.10:g.66943527G>T	(Likely) pathogenic	1 lab	4a99b13254
8:17820777 PCM1 T>C	8	17820777	17820777	T	C	PCM1	c.2748T>C	NM_001352650.1	NP_001339579.1:p.(Thr916=)	NC_000008.10:g.17820777T>C	(Likely) benign	1 lab	4a99dd742f
11:108160415 ATM A>T	11	108160415	108160415	A	T	ATM	c.4323A>T	NM_001351834.1	NP_001338763.1:p.(Ile1441=)	NC_000011.9:g.108160415A>T	(Likely) benign	1 lab	4a99f61de1
1:26392874 TRIM63 A>C	1	26392874	26392874	A	C	TRIM63	c.217T>G	NM_032588.3	NP_115977.2:p.(Phe73Val)	NC_000001.10:g.26392874A>C	VUS	1 lab	4a9c9fd847
X:8138293 VCX2 G>A	X	8138293	8138293	G	A	VCX2	c.200C>T	NM_016378.3	NP_057462.2:p.(Ala67Val)	NC_000023.10:g.8138293G>A	(Likely) benign	1 lab	4a9cd3e79e
12:88524335 CEP290 C>T	12	88524335	88524335	C	T	CEP290	c.503G>A	NM_025114.3	NP_079390.3:p.(Arg168His)	NC_000012.11:g.88524335C>T	(Likely) benign	1 lab	4a9ce3839e
1:186047351 HMCN1 C>T	1	186047351	186047351	C	T	HMCN1	c.8598C>T	NM_031935.2	NP_114141.2:p.(Leu2866=)	NC_000001.10:g.186047351C>T	(Likely) benign	1 lab	4a9f2b99ba
12:51089616 DIP2B T>C	12	51089616	51089616	T	C	DIP2B	c.1814-15T>C	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51089616T>C	(Likely) benign	1 lab	ef1f532c07
1:197059158 ASPM T>C	1	197059158	197059158	T	C	ASPM	c.9886A>G	NM_018136.4	NP_060606.3:p.(Ile3296Val)	NC_000001.10:g.197059158T>C	(Likely) benign	1 lab	4aa1785988
19:38572544 SIPA1L3 G>A	19	38572544	38572544	G	A	SIPA1L3	c.339G>A	NM_015073.2	NP_055888.1:p.(Met113Ile)	NC_000019.9:g.38572544G>A	(Likely) benign	1 lab	4aa2381b4a
20:62294193 RTEL1 C>T	20	62294193	62294193	C	T	RTEL1	c.489C>T	NM_001283009.2	NP_001269938.1:p.(Cys163=)	NC_000020.10:g.62294193C>T	(Likely) benign	1 lab	ef1fd4cc98
9:26980615 IFT74 T>G	9	26980615	26980615	T	G	IFT74	c.303T>G	NM_001349928.1	NP_001336857.1:p.(Leu101=)	NC_000009.11:g.26980615T>G	(Likely) benign	1 lab	4aa53dea55
7:103197553 RELN T>C	7	103197553	103197553	T	C	RELN	c.5668A>G	NM_173054.2	NP_774959.1:p.(Ile1890Val)	NC_000007.13:g.103197553T>C	VUS	1 lab	4aa5c00f88
5:169508983 DOCK2 A>G	5	169508983	169508983	A	G	DOCK2	c.5425A>G	NM_004946.3	NP_004937.1:p.(Thr1809Ala)	NC_000005.9:g.169508983A>G	(Likely) benign	1 lab	4aa64e9f5e
5:169412872 DOCK2 T>C	5	169412872	169412872	T	C	DOCK2	c.2939T>C	NM_004946.3	NP_004937.1:p.(Ile980Thr)	NC_000005.9:g.169412872T>C	VUS	1 lab	4aa8c5725d
20:56136608 PCK1 C>T	20	56136608	56136608	C	T	PCK1	c.141C>T	NM_002591.3	NP_002582.3:p.(Asp47=)	NC_000020.10:g.56136608C>T	(Likely) benign	1 lab	4aa9f6824b
8:48691357 PRKDC G>A	8	48691357	48691357	G	A	PRKDC	c.11583C>T	NM_006904.6	NP_008835.5:p.(Gly3861=)	NC_000008.10:g.48691357G>A	(Likely) benign	1 lab	4aab22049e
6:7583764 DSP A>G	6	7583764	7583764	A	G	DSP	c.6269A>G	NM_004415.2	NP_004406.2:p.(Glu2090Gly)	NC_000006.11:g.7583764A>G	VUS	1 lab	4aac1fe616
X:54200570 FAM120C T>C	X	54200570	54200570	T	C	FAM120C	c.709A>G	NM_198456.2	NP_940858.2:p.(Met237Val)	NC_000023.10:g.54200570T>C	(Likely) benign	1 lab	4aacaeac58
8:145640349 SLC39A4 G>A	8	145640349	145640349	G	A	SLC39A4	c.729+9C>T	NM_017767.2	NP_060237.2:p.?	NC_000008.10:g.145640349G>A	(Likely) benign	1 lab	4aacd72781
1:152284125 FLG C>T	1	152284125	152284125	C	T	FLG	c.3237G>A	NM_002016.1	NP_002007.1:p.(Glu1079=)	NC_000001.10:g.152284125C>T	(Likely) benign	1 lab	4aae2e40eb
9:91953424 SECISBP2 A>G	9	91953424	91953424	A	G	SECISBP2	c.937A>G	NM_001282690.1	NP_001269619.1:p.(Asn313Asp)	NC_000009.11:g.91953424A>G	VUS	1 lab	4aaed020fd
7:99808708 STAG3 A>C	7	99808708	99808708	A	C	STAG3	c.3313A>C	NM_001282717.1	NP_001269646.1:p.(Thr1105Pro)	NC_000007.13:g.99808708A>C	VUS	1 lab	4ab04496e3
1:57431590 C8B G>A	1	57431590	57431590	G	A	C8B	c.32C>T	NM_000066.2	NP_000057.1:p.(Ala11Val)	NC_000001.10:g.57431590G>A	(Likely) benign	1 lab	4ab0ffca88
19:50364754 PNKP G>GTCATC	19	50364754	50364761	G	GTCATC	PNKP	c.1395_1399dup	NM_007254.4	NP_009185.2:p.(Thr467ArgfsTer2)	NC_000019.9:g.50364757_50364761dup	(Likely) pathogenic	1 lab	ef209b6a5b
13:58207204 PCDH17 A>G	13	58207204	58207204	A	G	PCDH17	c.524A>G	NM_001040429.3	NP_001035519.1:p.(Asp175Gly)	NC_000013.10:g.58207204A>G	VUS	1 lab	4ab2335007
12:48107123 ENDOU C>T	12	48107123	48107123	C	T	ENDOU	c.800G>A	NM_001172439.2	NP_001165910.1:p.(Trp267Ter)	NC_000012.11:g.48107123C>T	VUS	1 lab	4ab2851968
17:36484608 GPR179 TCTC>T	17	36484608	36484617	TCTC	T	GPR179	c.4841_4843del	NM_001004334.4	NP_001004334.3:p.(Gly1614del)	NC_000017.10:g.36484615_36484617del	VUS	1 lab	4ab3269d32
14:105342590 CEP170B C>T	14	105342590	105342590	C	T	CEP170B	c.106-3C>T	NM_001112726.3	NP_001106197.1:p.?	NC_000014.8:g.105342590C>T	(Likely) benign	1 lab	4ab48c99a1
3:47734774 SMARCC1 A>G	3	47734774	47734774	A	G	SMARCC1	c.1182T>C	NM_003074.4	NP_003065.3:p.(Asp394=)	NC_000003.11:g.47734774A>G	(Likely) benign	1 lab	4ab57040d1
12:53702994 AAAS G>A	12	53702994	53702994	G	A	AAAS	c.882C>T	NM_015665.5	NP_056480.1:p.(Leu294=)	NC_000012.11:g.53702994G>A	(Likely) benign	1 lab	4ab7369c60
12:64784210 C12orf56 C>CAT	12	64784210	64784212	C	CAT	C12orf56	c.135_136insAT	NM_001170633.1	NP_001164104.1:p.(Glu46MetfsTer11)	NC_000012.11:g.64784211_64784212insTA	VUS	1 lab	4aba4a031f
1:235916419 LYST G>T	1	235916419	235916419	G	T	LYST	c.7385C>A	NM_000081.3	NP_000072.2:p.(Ala2462Glu)	NC_000001.10:g.235916419G>T	VUS	1 lab	4abb6986cb
22:38122422 TRIOBP C>T	22	38122422	38122422	C	T	TRIOBP	c.3859C>T	NM_001039141.2	NP_001034230.1:p.(Pro1287Ser)	NC_000022.10:g.38122422C>T	VUS	1 lab	4abbbf9ef8
9:22029445 CDKN2B-AS1 G>A	9	22029445	22029445	G	A	CDKN2B-AS1	n.385G>A	NR_003529.3		NC_000009.11:g.22029445G>A	(Likely) benign	1 lab	ef2219dc3c
10:127462702 MMP21 G>T	10	127462702	127462702	G	T	MMP21	c.395C>A	NM_147191.1	NP_671724.1:p.(Ser132Ter)	NC_000010.10:g.127462702G>T	(Likely) pathogenic	1 lab	4abcb40118
2:31758740 SRD5A2 T>C	2	31758740	31758740	T	C	SRD5A2	c.378A>G	NM_000348.3	NP_000339.2:p.(Gln126=)	NC_000002.11:g.31758740T>C	(Likely) pathogenic	1 lab	4abdb4e569
X:153221721 HCFC1 G>A	X	153221721	153221721	G	A	HCFC1	c.2777C>T	NM_005334.2	NP_005325.2:p.(Pro926Leu)	NC_000023.10:g.153221721G>A	(Likely) pathogenic	1 lab	4abfcc0c8f
20:31024980 ASXL1 T>C	20	31024980	31024980	T	C	ASXL1	c.4465T>C	NM_015338.5	NP_056153.2:p.(Ser1489Pro)	NC_000020.10:g.31024980T>C	VUS	1 lab	4ac0112748
17:29665040 NF1 C>A	17	29665040	29665040	C	A	NF1	c.6642-3C>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665040C>A	VUS	1 lab	4ac2d330ef
2:62067322 FAM161A C>T	2	62067322	62067322	C	T	FAM161A	c.817G>A	NM_001201543.1	NP_001188472.1:p.(Glu273Lys)	NC_000002.11:g.62067322C>T	(Likely) benign	1 lab	4ac52ff6b5
1:12017962 PLOD1 G>A	1	12017962	12017962	G	A	PLOD1	c.805G>A	NM_000302.3	NP_000293.2:p.(Val269Met)	NC_000001.10:g.12017962G>A	VUS	1 lab	4ac54dcda1
12:102158877 GNPTAB C>T	12	102158877	102158877	C	T	GNPTAB	c.1818G>A	NM_024312.4	NP_077288.2:p.(Met606Ile)	NC_000012.11:g.102158877C>T	VUS	1 lab	4ac69ddba9
X:139586992 SOX3 G>A	X	139586992	139586992	G	A	SOX3	c.234C>T	NM_005634.2	NP_005625.2:p.(Ser78=)	NC_000023.10:g.139586992G>A	(Likely) benign	1 lab	4ac723c18b
16:31499367 SLC5A2 G>A	16	31499367	31499367	G	A	SLC5A2	c.894G>A	NM_003041.3	NP_003032.1:p.(Val298=)	NC_000016.9:g.31499367G>A	(Likely) benign	1 lab	4ac7473583
19:36595703 WDR62 C>T	19	36595703	36595703	C	T	WDR62	c.4345C>T	NM_001083961.1	NP_001077430.1:p.(Gln1449Ter)	NC_000019.9:g.36595703C>T	(Likely) pathogenic	1 lab	4ac74e81f3
19:14040468 CC2D1A G>A	19	14040468	14040468	G	A	CC2D1A	c.2705G>A	NM_017721.4	NP_060191.3:p.(Arg902Gln)	NC_000019.9:g.14040468G>A	VUS	1 lab	4ac8e23069
19:54409649 PRKCG C>T	19	54409649	54409649	C	T	PRKCG	c.1843C>T	NM_002739.3	NP_002730.1:p.(Arg615Cys)	NC_000019.9:g.54409649C>T	VUS	1 lab	4ac9fd8c3f
11:2930818 SLC67A1 G>A	11	2930818	2930818	G	A	SLC67A1	c.414G>A	NM_183233.2	NP_899056.2:p.(Met138Ile)	NC_000011.9:g.2930818G>A	(Likely) benign	1 lab	4aca73ece3
2:47693946 MSH2 A>G	2	47693946	47693946	A	G	MSH2	c.1660A>G	NM_000251.2	NP_000242.1:p.(Ser554Gly)	NC_000002.11:g.47693946A>G	(Likely) pathogenic	1 lab	4acb1be298
13:108861351 LIG4 G>A	13	108861351	108861351	G	A	LIG4	c.2266C>T	NM_002312.3	NP_002303.2:p.(Arg756Cys)	NC_000013.10:g.108861351G>A	(Likely) benign	1 lab	4acfa7fc5a
7:74146822 GTF2I C>T	7	74146822	74146822	C	T	GTF2I	c.1123C>T	NM_032999.3	NP_127492.1:p.(Gln375Ter)	NC_000007.13:g.74146822C>T	VUS	1 lab	4ad077852f
X:30327012 NR0B1 G>A	X	30327012	30327012	G	A	NR0B1	c.469C>T	NM_000475.4	NP_000466.2:p.(His157Tyr)	NC_000023.10:g.30327012G>A	VUS	1 lab	4ad1e79dc5
1:11193262 MTOR C>T	1	11193262	11193262	C	T	MTOR	c.5247-8G>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11193262C>T	(Likely) benign	1 lab	4ad2922b22
10:454926 DIP2C A>G	10	454926	454926	A	G	DIP2C	c.1089T>C	NM_014974.3	NP_055789.1:p.(Ala363=)	NC_000010.10:g.454926A>G	(Likely) benign	1 lab	4ad3242b56
11:101985018 YAP1 C>G	11	101985018	101985018	C	G	YAP1	c.465C>G	NM_001282101.1	NP_001269030.1:p.(Pro155=)	NC_000011.9:g.101985018C>G	(Likely) benign	1 lab	4ad4405c5d
10:121612619 MCMBP C>T	10	121612619	121612619	C	T	MCMBP	c.517G>A	NM_024834.3	NP_079110.1:p.(Asp173Asn)	NC_000010.10:g.121612619C>T	VUS	1 lab	4ad6c7994b
3:167414901 PDCD10 TTTTC>T	3	167414901	167414908	TTTTC	T	PDCD10	c.160_163del	NM_007217.4	NP_009148.2:p.(Glu54IlefsTer10)	NC_000003.11:g.167414905_167414908del	(Likely) pathogenic	1 lab	4ad7e1055c
19:17008728 MISSING T>A	19	17008728	17008728	T	A	MISSING				NC_000019.9:g.17008728T>A	(Likely) benign	1 lab	4ad956f815
3:189713157 P3H2 C>A	3	189713157	189713157	C	A	P3H2	c.555G>T	NM_018192.4	NP_060662.2:p.(Gln185His)	NC_000003.11:g.189713157C>A	VUS	1 lab	4adb4118ce
12:40740676 LRRK2 G>A	12	40740676	40740676	G	A	LRRK2	c.6231G>A	NM_198578.3	NP_940980.3:p.(Leu2077=)	NC_000012.11:g.40740676G>A	(Likely) benign	1 lab	4adbdbad19
5:149433682 CSF1R C>G	5	149433682	149433682	C	G	CSF1R	c.2869G>C	NM_001349736.1	NP_001336665.1:p.(Gly957Arg)	NC_000005.9:g.149433682C>G	VUS	1 lab	4adbe7cae9
X:2407844 ZBED1 G>A	X	2407844	2407844	G	A	ZBED1	c.917C>T	NM_001171135.1	NP_001164606.1:p.(Pro306Leu)	NC_000023.10:g.2407844G>A	VUS	1 lab	4adbfa8461
12:106763381 POLR3B A>G	12	106763381	106763381	A	G	POLR3B	c.324A>G	NM_018082.5	NP_060552.4:p.(Thr108=)	NC_000012.11:g.106763381A>G	(Likely) benign	1 lab	4adf6a0181
10:6067873 IL2RA G>A	10	6067873	6067873	G	A	IL2RA	c.180C>T	NM_000417.2	NP_000408.1:p.(Ser60=)	NC_000010.10:g.6067873G>A	VUS	1 lab	4bc6f515f7
2:189901349 COL5A2 C>T	2	189901349	189901349	C	T	COL5A2	c.4106G>A	NM_000393.4	NP_000384.2:p.(Gly1369Glu)	NC_000002.11:g.189901349C>T	VUS	1 lab	4ae0629057
17:29684388 NF1 G>A	17	29684388	29684388	G	A	NF1	c.7907+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684388G>A	(Likely) pathogenic	1 lab	4ae3f4b939
19:6368677 CLPP G>A	19	6368677	6368677	G	A	CLPP	c.790G>A	NM_006012.2	NP_006003.1:p.(Val264Ile)	NC_000019.9:g.6368677G>A	(Likely) benign	1 lab	4ae4b5aaa3
2:179440273 TTN G>A	2	179440273	179440273	G	A	TTN	c.70586C>T	NM_001267550.1	NP_001254479.1:p.(Ala23529Val)	NC_000002.11:g.179440273G>A	VUS	1 lab	4ae4bf86ee
X:48378780 PORCN C>T	X	48378780	48378780	C	T	PORCN	c.1056C>T	NM_001282167.1	NP_001269096.1:p.(Tyr352=)	NC_000023.10:g.48378780C>T	(Likely) benign	1 lab	4ae5a64447
6:74345205 SLC17A5 C>T	6	74345205	74345205	C	T	SLC17A5	c.719G>A	NM_012434.4	NP_036566.1:p.(Trp240Ter)	NC_000006.11:g.74345205C>T	(Likely) pathogenic	1 lab	4ae5e3eb7f
X:53278033 IQSEC2 C>T	X	53278033	53278033	C	T	IQSEC2	c.2329G>A	NM_001111125.2	NP_001104595.1:p.(Glu777Lys)	NC_000023.10:g.53278033C>T	VUS	1 lab	4ae7febd72
11:129742970 NFRKB C>T	11	129742970	129742970	C	T	NFRKB	c.2572G>A	NM_001143835.1	NP_001137307.1:p.(Val858Ile)	NC_000011.9:g.129742970C>T	VUS	1 lab	4ae82c8695
2:179603880 TTN C>T	2	179603880	179603880	C	T	TTN	c.14080G>A	NM_001267550.2	NP_001254479.2:p.(Val4694Ile)	NC_000002.11:g.179603880C>T	VUS	1 lab	ef2f733b01
3:195965680 PCYT1A C>T	3	195965680	195965680	C	T	PCYT1A	c.983G>A	NM_001312673.2	NP_001299602.1:p.(Arg328His)	NC_000003.11:g.195965680C>T	(Likely) benign	1 lab	4aefb6cf9f
11:3838626 PGAP2 A>AC	11	3838626	3838630	A	AC	PGAP2	c.384dup	NM_001256236.1	NP_001243165.1:p.(Asp129ArgfsTer37)	NC_000011.9:g.3838630dup	VUS	1 lab	4af05cd29a
22:37266504 NCF4 G>A	22	37266504	37266504	G	A	NCF4	c.390G>A	NM_013416.3	NP_038202.2:p.(Arg130=)	NC_000022.10:g.37266504G>A	(Likely) benign	1 lab	4af0855b53
9:133760160 ABL1 C>T	9	133760160	133760160	C	T	ABL1	c.2540C>T	NM_007313.2	NP_009297.2:p.(Ser847Leu)	NC_000009.11:g.133760160C>T	VUS	1 lab	4af10978e2
12:48379545 COL2A1 C>T	12	48379545	48379545	C	T	COL2A1	c.1646G>A	NM_001844.4	NP_001835.3:p.(Gly549Asp)	NC_000012.11:g.48379545C>T	(Likely) pathogenic	1 lab	4af2ed0071
16:15814041 MYH11 C>T	16	15814041	15814041	C	T	MYH11	c.4941G>A	NM_001040113.1	NP_001035202.1:p.(Arg1647=)	NC_000016.9:g.15814041C>T	(Likely) benign	1 lab	4af2eda3b3
19:15355399 BRD4 G>A	19	15355399	15355399	G	A	BRD4	c.2224C>T	NM_058243.2	NP_490597.1:p.(His742Tyr)	NC_000019.9:g.15355399G>A	(Likely) benign	1 lab	4af3328efe
2:109539827 EDAR C>A	2	109539827	109539827	C	A	EDAR	c.439G>T	NM_022336.4	NP_071731.1:p.(Glu147Ter)	NC_000002.11:g.109539827C>A	(Likely) pathogenic	1 lab	ef30b801c0
1:214832208 CENPF C>T	1	214832208	214832208	C	T	CENPF	c.8978C>T	NM_016343.3	NP_057427.3:p.(Pro2993Leu)	NC_000001.10:g.214832208C>T	VUS	1 lab	4af4d97212
8:108509663 ANGPT1 C>T	8	108509663	108509663	C	T	ANGPT1	c.124G>A	NM_001146.4	NP_001137.2:p.(Ala42Thr)	NC_000008.10:g.108509663C>T	VUS	1 lab	4af5588859
7:138916408 UBN2 C>G	7	138916408	138916408	C	G	UBN2	c.178C>G	NM_173569.4	NP_775840.3:p.(Arg60Gly)	NC_000007.13:g.138916408C>G	(Likely) benign	1 lab	4af7e05983
11:121000788 TECTA C>T	11	121000788	121000788	C	T	TECTA	c.2809C>T	NM_005422.2	NP_005413.2:p.(Arg937Cys)	NC_000011.9:g.121000788C>T	VUS	1 lab	4af952f461
16:78458774 WWOX C>A	16	78458774	78458774	C	A	WWOX	c.613C>A	NM_016373.3	NP_057457.1:p.(His205Asn)	NC_000016.9:g.78458774C>A	(Likely) benign	1 lab	4af963d665
14:74970620 LTBP2 T>G	14	74970620	74970620	T	G	LTBP2	c.4582+9A>C	NM_000428.2	NP_000419.1:p.?	NC_000014.8:g.74970620T>G	(Likely) benign	1 lab	4afa58fe90
10:13154559 OPTN G>T	10	13154559	13154559	G	T	OPTN	c.476G>T	NM_001008211.1	NP_001008212.1:p.(Gly159Val)	NC_000010.10:g.13154559G>T	VUS	1 lab	4afae50e25
6:152647526 SYNE1 G>A	6	152647526	152647526	G	A	SYNE1	c.15198C>T	NM_182961.3	NP_892006.3:p.(Thr5066=)	NC_000006.11:g.152647526G>A	(Likely) benign	1 lab	4afaf35fa8
8:144942697 EPPK1 C>A	8	144942697	144942697	C	A	EPPK1				NC_000008.10:g.144942697C>A	(Likely) benign	1 lab	4afb7c2149
6:51889723 PKHD1 T>C	6	51889723	51889723	T	C	PKHD1	c.4885A>G	NM_138694.3	NP_619639.3:p.(Thr1629Ala)	NC_000006.11:g.51889723T>C	(Likely) benign	1 lab	4afc9bc1be
8:101083683 RGS22 C>T	8	101083683	101083683	C	T	RGS22	c.508G>A	NM_015668.5	NP_056483.3:p.(Val170Met)	NC_000008.10:g.101083683C>T	(Likely) benign	1 lab	4afdd56588
1:46532758 LOC110117498-PIK3R3 C>T	1	46532758	46532758	C	T	LOC110117498-PIK3R3	c.458G>A	NM_001303427.1	NP_001290356.1:p.(Gly153Glu)	NC_000001.10:g.46532758C>T	VUS	1 lab	4afe960436
16:17294495 XYLT1 G>A	16	17294495	17294495	G	A	XYLT1	c.930C>T	NM_022166.3	NP_071449.1:p.(Asn310=)	NC_000016.9:g.17294495G>A	(Likely) benign	1 lab	4afef3f2d7
2:179556738 TTN CGTA>C	2	179556738	179556741	CGTA	C	TTN	c.31762+2_31762+4del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179556739_179556741del	VUS	1 lab	4b003ef74f
4:110769387 LRIT3 C>A	4	110769387	110769387	C	A	LRIT3	c.30C>A	NM_198506.4	NP_940908.3:p.(Val10=)	NC_000004.11:g.110769387C>A	(Likely) benign	1 lab	4b0274ba77
12:21998603 ABCC9 A>G	12	21998603	21998603	A	G	ABCC9	c.3030T>C	NM_020297.2	NP_064693.2:p.(Ala1010=)	NC_000012.11:g.21998603A>G	(Likely) benign	1 lab	4b03b4b01e
11:31816173 PAX6 A>G	11	31816173	31816173	A	G	PAX6	c.274+5T>C	NM_001310160.1	NP_001297089.1:p.?	NC_000011.9:g.31816173A>G	(Likely) benign	1 lab	4b060c8b9f
16:2098720 TSC2 AGACG>A	16	2098720	2098726	AGACG	A	TSC2	c.107_110del	NM_000548.5	NP_000539.2:p.(Thr36SerfsTer9)	NC_000016.9:g.2098723_2098726del	(Likely) pathogenic	1 lab	4b062bfe8a
19:13007025 GCDH G>A	19	13007025	13007025	G	A	GCDH	c.642G>A	NM_000159.3	NP_000150.1:p.(Thr214=)	NC_000019.9:g.13007025G>A	(Likely) benign	1 lab	4b06a4e313
X:100613638 BTK T>C	X	100613638	100613638	T	C	BTK	c.1043A>G	NM_001287344.1	NP_001274273.1:p.(Lys348Arg)	NC_000023.10:g.100613638T>C	VUS	1 lab	4b086a8a17
20:18462364 POLR3F C>A	20	18462364	18462364	C	A	POLR3F	c.660C>A	NM_001282526.2	NP_001269455.1:p.(Gly220=)	NC_000020.10:g.18462364C>A	(Likely) benign	1 lab	ef31c41ad9
14:23874854 MYH6 G>A	14	23874854	23874854	G	A	MYH6	c.327C>T	NM_002471.3	NP_002462.2:p.(Tyr109=)	NC_000014.8:g.23874854G>A	(Likely) benign	1 lab	4b099363e5
8:140714966 KCNK9 G>C	8	140714966	140714966	G	C	KCNK9	c.270C>G	NM_001282534.1	NP_001269463.1:p.(Val90=)	NC_000008.10:g.140714966G>C	(Likely) benign	1 lab	4b0aabc433
14:102446098 DYNC1H1 A>G	14	102446098	102446098	A	G	DYNC1H1	c.561A>G	NM_001376.4	NP_001367.2:p.(Ala187=)	NC_000014.8:g.102446098A>G	(Likely) benign	1 lab	4b0b2faddd
1:244724144 CATSPERE G>A	1	244724144	244724144	G	A	CATSPERE	c.1204G>A	NM_001130957.1	NP_001124429.1:p.(Glu402Lys)	NC_000001.10:g.244724144G>A	VUS	1 lab	4b0b72b6f7
5:79950696 MSH3 CGCTGCAGCG>C	5	79950696	79950716	CGCTGCAGCG	C	MSH3	c.162_170del	NM_002439.5	NP_002430.3:p.(Ala60_Ala62del)	NC_000005.9:g.79950708_79950716del	(Likely) benign	1 lab	ef36e63921
18:52899888 TCF4 G>A	18	52899888	52899888	G	A	TCF4	c.1501C>T	NM_001083962.1	NP_001077431.1:p.(Leu501=)	NC_000018.9:g.52899888G>A	(Likely) benign	1 lab	4b0bfc33f5
3:52407054 DNAH1 G>A	3	52407054	52407054	G	A	DNAH1	c.6970G>A	NM_015512.4	NP_056327.4:p.(Asp2324Asn)	NC_000003.11:g.52407054G>A	VUS	1 lab	4b0c27737d
17:5456822 NLRP1 G>A	17	5456822	5456822	G	A	NLRP1	c.2412C>T	NM_033004.4	NP_127497.1:p.(Leu804=)	NC_000017.10:g.5456822G>A	(Likely) benign	1 lab	4b0c3ae9bb
6:31836994 SLC44A4 C>G	6	31836994	31836994	C	G	SLC44A4	c.943G>C	NM_001178045.1	NP_001171516.1:p.(Ala315Pro)	NC_000006.11:g.31836994C>G	VUS	1 lab	4b0d55b2b3
3:123667639 CCDC14 G>A	3	123667639	123667639	G	A	CCDC14	c.134-7C>T	NM_001308317.2	NP_001295246.1:p.?	NC_000003.11:g.123667639G>A	(Likely) benign	1 lab	4b0d593b31
15:48905282 FBN1 C>T	15	48905282	48905282	C	T	FBN1	c.172G>A	NM_000138.4	NP_000129.3:p.(Val58Ile)	NC_000015.9:g.48905282C>T	VUS	1 lab	4b0d8cc359
16:30723374 SRCAP CCTA>C	16	30723374	30723379	CCTA	C	SRCAP	c.1714_1716del	NM_006662.3	NP_006653.2:p.(Thr572del)	NC_000016.9:g.30723377_30723379del	VUS	1 lab	4b0db52232
6:32190472 NOTCH4 C>A	6	32190472	32190472	C	A	NOTCH4	c.267G>T	NM_004557.3	NP_004548.3:p.(Gly89=)	NC_000006.11:g.32190472C>A	(Likely) benign	1 lab	4b0e03a9e5
17:29677292 NF1 TC>T	17	29677292	29677294	TC	T	NF1	c.7415del	NM_001042492.3	NP_001035957.1:p.(Pro2472LeufsTer17)	NC_000017.10:g.29677294del	(Likely) pathogenic	1 lab	4b0e2195ac
X:47060844 UBA1 C>G	X	47060844	47060844	C	G	UBA1	c.679-33C>G	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47060844C>G	(Likely) benign	1 lab	ef386057c6
4:15482825 CC2D2A G>C	4	15482825	15482825	G	C	CC2D2A	c.358G>C	NM_020785.2	NP_065836.2:p.(Ala120Pro)	NC_000004.11:g.15482825G>C	VUS	1 lab	4b13718572
19:12014409 ZNF69 G>A	19	12014409	12014409	G	A	ZNF69	c.85G>A	NM_001364730.1	NP_001351659.1:p.(Val29Ile)	NC_000019.9:g.12014409G>A	(Likely) benign	1 lab	4b14a9a273
17:29657521 NF1 G>A	17	29657521	29657521	G	A	NF1	c.5749+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29657521G>A	(Likely) pathogenic	1 lab	4b16287dd3
17:29670017 NF1 T>G	17	29670017	29670017	T	G	NF1	c.7000-10T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29670017T>G	(Likely) pathogenic	1 lab	4b17de5f80
14:31619290 HECTD1 A>G	14	31619290	31619290	A	G	HECTD1	c.2070T>C	NM_015382.4	NP_056197.3:p.(Ser690=)	NC_000014.8:g.31619290A>G	(Likely) benign	1 lab	4b185ffa04
16:50733640 NOD2 G>A	16	50733640	50733640	G	A	NOD2	c.315G>A	NM_022162.1	NP_071445.1:p.(Ala105=)	NC_000016.9:g.50733640G>A	(Likely) benign	1 lab	4b1870941c
3:128628984 ACAD9 G>A	3	128628984	128628984	G	A	ACAD9	c.1684G>A	NM_014049.4	NP_054768.2:p.(Asp562Asn)	NC_000003.11:g.128628984G>A	VUS	1 lab	4b1c4260eb
1:26784291 DHDDS T>A	1	26784291	26784291	T	A	DHDDS	c.273T>A	NM_001319959.1	NP_001306888.1:p.(Ser91=)	NC_000001.10:g.26784291T>A	(Likely) benign	1 lab	4b1cd443f6
1:40782860 COL9A2 C>T	1	40782860	40782860	C	T	COL9A2	c.10G>A	NM_001852.4	NP_001843.1:p.(Ala4Thr)	NC_000001.10:g.40782860C>T	(Likely) benign	1 lab	4b1d6113b8
X:70360551 MED12 C>T	X	70360551	70360551	C	T	MED12	c.6111C>T	NM_005120.2	NP_005111.2:p.(Gly2037=)	NC_000023.10:g.70360551C>T	(Likely) benign	1 lab	4b1e815205
9:111826792 TMEM245 C>A	9	111826792	111826792	C	A	TMEM245	c.1588G>T	NM_032012.4	NP_114401.2:p.(Val530Leu)	NC_000009.11:g.111826792C>A	VUS	1 lab	4b2177e8ef
14:102516472 DYNC1H1 C>T	14	102516472	102516472	C	T	DYNC1H1	c.13749C>T	NM_001376.4	NP_001367.2:p.(Thr4583=)	NC_000014.8:g.102516472C>T	(Likely) benign	1 lab	4b220a06c6
11:2869090 KCNQ1 C>T	11	2869090	2869090	C	T	KCNQ1	c.1888C>T	NM_000218.2	NP_000209.2:p.(Pro630Ser)	NC_000011.9:g.2869090C>T	VUS	1 lab	4b2293c45f
13:30090362 SLC7A1 G>A	13	30090362	30090362	G	A	SLC7A1	c.1699C>T	NM_003045.5	NP_003036.1:p.(Pro567Ser)	NC_000013.10:g.30090362G>A	VUS	1 lab	4b229aef92
22:21348209 LZTR1 G>A	22	21348209	21348209	G	A	LZTR1	c.1354-4G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21348209G>A	(Likely) benign	1 lab	ef3fd47228
X:1719950 AKAP17A C>T	X	1719950	1719950	C	T	AKAP17A	c.1551C>T	NM_005088.2	NP_005079.2:p.(Ala517=)	NC_000023.10:g.1719950C>T	(Likely) benign	1 lab	4b273f5ee0
13:77574710 CLN5 C>T	13	77574710	77574710	C	T	CLN5	c.683C>T	NM_006493.4	NP_006484.2:p.(Ser228Phe)	NC_000013.10:g.77574710C>T	VUS	1 lab	ef41b01cb7
7:65432753 GUSB C>T	7	65432753	65432753	C	T	GUSB	c.1618G>A	NM_000181.3	NP_000172.2:p.(Glu540Lys)	NC_000007.13:g.65432753C>T	VUS	1 lab	4b2857ecd6
6:35480606 TULP1 C>T	6	35480606	35480606	C	T	TULP1	c.30G>A	NM_003322.5	NP_003313.3:p.(Glu10=)	NC_000006.11:g.35480606C>T	(Likely) benign	1 lab	4b29fd57d8
16:58036446 USB1 G>A	16	58036446	58036446	G	A	USB1	c.162G>A	NM_001204911.1	NP_001191840.1:p.(Pro54=)	NC_000016.9:g.58036446G>A	(Likely) benign	1 lab	4b2c5cc178
6:110036316 FIG4 G>A	6	110036316	110036316	G	A	FIG4	c.102G>A	NM_014845.5	NP_055660.1:p.(Thr34=)	NC_000006.11:g.110036316G>A	(Likely) benign	1 lab	4b2daebec7
X:19431516 MAP3K15 C>G	X	19431516	19431516	C	G	MAP3K15	c.1657G>C	NM_001001671.3	NP_001001671.3:p.(Glu553Gln)	NC_000023.10:g.19431516C>G	VUS	1 lab	4b2e253545
10:75874601 VCL A>T	10	75874601	75874601	A	T	VCL	c.3202A>T	NM_014000.3	NP_054706.1:p.(Thr1068Ser)	NC_000010.10:g.75874601A>T	VUS	1 lab	ef420cd3d4
8:144990460 PLEC C>A	8	144990460	144990460	C	A	PLEC	c.13940G>T	NM_201380.3	NP_958782.1:p.(Gly4647Val)	NC_000008.10:g.144990460C>A	VUS	1 lab	4b32873e53
16:50828255 CYLD G>T	16	50828255	50828255	G	T	CYLD	c.2602G>T	NM_015247.2	NP_056062.1:p.(Glu868Ter)	NC_000016.9:g.50828255G>T	(Likely) pathogenic	1 lab	4b335d8fe5
8:10465809 RP1L1 T>C	8	10465809	10465809	T	C	RP1L1	c.5799A>G	NM_178857.5	NP_849188.4:p.(Pro1933=)	NC_000008.10:g.10465809T>C	(Likely) benign	1 lab	4b34888920
19:3902556 ATCAY G>A	19	3902556	3902556	G	A	ATCAY	c.136+13G>A	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3902556G>A	(Likely) benign	1 lab	4b34b16042
19:15289733 NOTCH3 G>A	19	15289733	15289733	G	A	NOTCH3	c.3738C>T	NM_000435.2	NP_000426.2:p.(Val1246=)	NC_000019.9:g.15289733G>A	(Likely) benign	1 lab	4b3756043d
3:50382923 ZMYND10 C>T	3	50382923	50382923	C	T	ZMYND10	c.88G>A	NM_015896.3	NP_056980.2:p.(Glu30Lys)	NC_000003.11:g.50382923C>T	(Likely) benign	1 lab	4b37c4b902
X:149638817 MAMLD1 C>T	X	149638817	149638817	C	T	MAMLD1	c.972C>T	NM_005491.4	NP_005482.2:p.(Pro324=)	NC_000023.10:g.149638817C>T	(Likely) benign	1 lab	4b37cea3d4
6:157100080 ARID1B GGCGGCGGCGGCC>G	6	157100080	157100103	GGCGGCGGCGGCC	G	ARID1B	c.1278_1289del	NM_001374828.1	NP_001361757.1:p.(Ala430_Ala433del)	NC_000006.11:g.157100092_157100103del	(Likely) benign	1 lab	4b380aed31
8:61654204 CHD7 C>T	8	61654204	61654204	C	T	CHD7				NC_000008.10:g.61654204C>T	(Likely) benign	1 lab	4b3bb92271
16:88804523 PIEZO1 G>A	16	88804523	88804523	G	A	PIEZO1	c.849-10C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88804523G>A	(Likely) benign	1 lab	4b3d08724f
11:76894123 MYO7A C>T	11	76894123	76894123	C	T	MYO7A	c.3296C>T	NM_000260.3	NP_000251.3:p.(Pro1099Leu)	NC_000011.9:g.76894123C>T	(Likely) benign	1 lab	4b3defc223
6:170169624 ERMARD A>G	6	170169624	170169624	A	G	ERMARD	c.1060-12A>G	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170169624A>G	(Likely) benign	1 lab	4b3f29006d
15:23891846 MAGEL2 A>G	15	23891846	23891846	A	G	MAGEL2	c.1044T>C	NM_019066.4	NP_061939.3:p.(Pro348=)	NC_000015.9:g.23891846A>G	(Likely) benign	1 lab	4b409e7ab5
19:50091849 PRRG2 C>T	19	50091849	50091849	C	T	PRRG2	c.328C>T	NM_001316335.1	NP_001303264.1:p.(Arg110Cys)	NC_000019.9:g.50091849C>T	VUS	1 lab	4b40c53b50
X:70680606 TAF1 G>C	X	70680606	70680606	G	C	TAF1	c.5418G>C	NM_001286074.1	NP_001273003.1:p.(Glu1806Asp)	NC_000023.10:g.70680606G>C	VUS	1 lab	4b41dbfecf
11:6629280 ILK G>A	11	6629280	6629280	G	A	ILK	c.94G>A	NM_001014795.2	NP_001014795.1:p.(Asp32Asn)	NC_000011.9:g.6629280G>A	VUS	1 lab	4b42ec566d
14:53569767 DDHD1 T>C	14	53569767	53569767	T	C	DDHD1	c.1015A>G	NM_001160147.1	NP_001153619.1:p.(Ser339Gly)	NC_000014.8:g.53569767T>C	(Likely) benign	1 lab	4b4375ad63
17:41203055 BRCA1 C>T	17	41203055	41203055	C	T	BRCA1	c.5332+25G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203055C>T	(Likely) benign	1 lab	4b4382c2e1
19:45856352 ERCC2 C>T	19	45856352	45856352	C	T	ERCC2	c.1820G>A	NM_000400.3	NP_000391.1:p.(Gly607Glu)	NC_000019.9:g.45856352C>T	(Likely) pathogenic	1 lab	4b461ccecb
16:89351851 ANKRD11 A>G	16	89351851	89351851	A	G	ANKRD11	c.1099T>C	NM_001256182.1	NP_001243111.1:p.(Leu367=)	NC_000016.9:g.89351851A>G	(Likely) benign	1 lab	4b4880ef70
17:1630911 WDR81 G>T	17	1630911	1630911	G	T	WDR81	c.2658G>T	NM_001163809.1	NP_001157281.1:p.(Leu886=)	NC_000017.10:g.1630911G>T	(Likely) benign	1 lab	4b491fee57
6:7582958 DSP C>T	6	7582958	7582958	C	T	DSP	c.5463C>T	NM_004415.2	NP_004406.2:p.(Val1821=)	NC_000006.11:g.7582958C>T	(Likely) benign	1 lab	4b4ab6445a
9:35091692 PIGO CG>C	9	35091692	35091699	CG	C	PIGO	c.2191del	NM_032634.4	NP_116023.2:p.(Arg731ValfsTer17)	NC_000009.11:g.35091699del	(Likely) pathogenic	1 lab	4b4d7c9535
17:29587387 NF1 G>GT	17	29587387	29587392	G	GT	NF1	c.4373dup	NM_000267.3	NP_000258.1:p.(Leu1459ProfsTer2)	NC_000017.10:g.29587392dup	(Likely) pathogenic	1 lab	4b506bcebc
22:38155503 TRIOBP C>T	22	38155503	38155503	C	T	TRIOBP	c.1265C>T	NM_138632.2	NP_619538.2:p.(Thr422Ile)	NC_000022.10:g.38155503C>T	(Likely) benign	1 lab	4b50b1b217
1:155722364 GON4L T>C	1	155722364	155722364	T	C	GON4L	c.5860A>G	NM_001282860.1	NP_001269789.1:p.(Ser1954Gly)	NC_000001.10:g.155722364T>C	(Likely) benign	1 lab	4b50f09d54
11:6646021 DCHS1 C>T	11	6646021	6646021	C	T	DCHS1				NC_000011.9:g.6646021C>T	VUS	1 lab	4bd6933b39
4:2831356 SH3BP2 GC>G	4	2831356	2831357	GC	G	SH3BP2	c.808del	NM_001145855.2	NP_001139327.1:p.(His270ThrfsTer36)	NC_000004.11:g.2831357del	VUS	1 lab	ef4c28c352
X:49069174 CACNA1F C>T	X	49069174	49069174	C	T	CACNA1F	c.3928G>A	NM_005183.3	NP_005174.2:p.(Gly1310Ser)	NC_000023.10:g.49069174C>T	VUS	1 lab	4b51efbdc5
4:151773855 LRBA A>G	4	151773855	151773855	A	G	LRBA	c.3007T>C	NM_001199282.2	NP_001186211.2:p.(Ser1003Pro)	NC_000004.11:g.151773855A>G	(Likely) benign	1 lab	4b52b85a23
14:105408430 AHNAK2 T>A	14	105408430	105408430	T	A	AHNAK2	c.13358A>T	NM_138420.3	NP_612429.2:p.(Asp4453Val)	NC_000014.8:g.105408430T>A	VUS	1 lab	4b535664ed
16:50813892 CYLD T>A	16	50813892	50813892	T	A	CYLD	c.1455T>A	NM_015247.2	NP_056062.1:p.(Tyr485Ter)	NC_000016.9:g.50813892T>A	(Likely) pathogenic	1 lab	4b5382ca79
19:17679494 COLGALT1 C>T	19	17679494	17679494	C	T	COLGALT1	c.801C>T	NM_024656.4	NP_078932.2:p.(Ile267=)	NC_000019.9:g.17679494C>T	(Likely) benign	1 lab	4b546e8761
3:195791303 TFRC T>A	3	195791303	195791303	T	A	TFRC	c.1199-4A>T	NM_003234.3	NP_003225.2:p.?	NC_000003.11:g.195791303T>A	(Likely) benign	1 lab	4b54ddef52
12:9356548 PZP C>T	12	9356548	9356548	C	T	PZP	c.84-1G>A	NM_002864.2	NP_002855.2:p.?	NC_000012.11:g.9356548C>T	VUS	1 lab	4b5519221a
7:151216353 RHEB G>A	7	151216353	151216353	G	A	RHEB	c.52+193C>T	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151216353G>A	(Likely) benign	1 lab	4b55dd9490
X:41332928 NYX G>A	X	41332928	41332928	G	A	NYX	c.222G>A	NM_022567.2	NP_072089.1:p.(Leu74=)	NC_000023.10:g.41332928G>A	(Likely) benign	1 lab	4b566c7189
11:48149596 PTPRJ G>A	11	48149596	48149596	G	A	PTPRJ	c.1357+1G>A	NM_002843.3	NP_002834.3:p.?	NC_000011.9:g.48149596G>A	(Likely) pathogenic	1 lab	4b56c23b7e
1:220331134 RAB3GAP2 C>T	1	220331134	220331134	C	T	RAB3GAP2	c.3336+10G>A	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220331134C>T	(Likely) benign	1 lab	4b56ff767c
2:228563454 SLC19A3 C>A	2	228563454	228563454	C	A	SLC19A3	c.977G>T	NM_025243.3	NP_079519.1:p.(Gly326Val)	NC_000002.11:g.228563454C>A	(Likely) benign	1 lab	4b570cb999
10:101639977 DNMBP C>T	10	101639977	101639977	C	T	DNMBP	c.4139G>A	NM_015221.4	NP_056036.1:p.(Gly1380Asp)	NC_000010.10:g.101639977C>T	VUS	1 lab	4b580ffc3c
3:47459211 SCAP G>T	3	47459211	47459211	G	T	SCAP	c.2553C>A	NM_012235.4	NP_036367.2:p.(Ser851Arg)	NC_000003.11:g.47459211G>T	(Likely) benign	1 lab	4b5844e2c4
6:73902402 KCNQ5 G>A	6	73902402	73902402	G	A	KCNQ5	c.1881G>A	NM_001160133.1	NP_001153605.1:p.(Lys627=)	NC_000006.11:g.73902402G>A	(Likely) benign	1 lab	4b587b1ad4
2:38908467 GALM C>T	2	38908467	38908467	C	T	GALM	c.391C>T	NM_138801.3	NP_620156.1:p.(Arg131Cys)	NC_000002.11:g.38908467C>T	(Likely) benign	1 lab	4b587f7cf2
12:106827645 POLR3B A>T	12	106827645	106827645	A	T	POLR3B	c.1776A>T	NM_018082.5	NP_060552.4:p.(Leu592=)	NC_000012.11:g.106827645A>T	(Likely) benign	1 lab	4b58cb7012
15:28467260 HERC2 G>A	15	28467260	28467260	G	A	HERC2	c.5566C>T	NM_004667.5	NP_004658.3:p.(Leu1856Phe)	NC_000015.9:g.28467260G>A	(Likely) benign	1 lab	4b596b92e3
1:161518286 FCGR3A C>T	1	161518286	161518286	C	T	FCGR3A	c.559G>A	NM_000569.7	NP_000560.6:p.(Asp187Asn)	NC_000001.10:g.161518286C>T	(Likely) benign	1 lab	4b5b319090
20:25288593 ABHD12 T>G	20	25288593	25288593	T	G	ABHD12	c.867+9A>C	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25288593T>G	(Likely) benign	1 lab	4b5bc18c8d
X:146993733 FMR1 T>C	X	146993733	146993733	T	C	FMR1	c.36T>C	NM_002024.5	NP_002015.1:p.(Asn12=)	NC_000023.10:g.146993733T>C	(Likely) benign	1 lab	4b5bffe6fe
2:209215491 PIKFYVE A>G	2	209215491	209215491	A	G	PIKFYVE	c.5435-4A>G	NM_015040.3	NP_055855.2:p.?	NC_000002.11:g.209215491A>G	(Likely) benign	1 lab	4b5d5f453b
5:70840912 BDP1 G>T	5	70840912	70840912	G	T	BDP1	c.6610G>T	NM_018429.2	NP_060899.2:p.(Val2204Phe)	NC_000005.9:g.70840912G>T	VUS	1 lab	4b5d981def
X:106229421 MORC4 A>G	X	106229421	106229421	A	G	MORC4	c.318T>C	NM_024657.5	NP_078933.3:p.(Phe106=)	NC_000023.10:g.106229421A>G	(Likely) benign	1 lab	4b60597bb4
2:29917743 ALK C>T	2	29917743	29917743	C	T	ALK				NC_000002.11:g.29917743C>T	(Likely) benign	1 lab	4b6088f5fe
17:29665160 NF1 A>G	17	29665160	29665160	A	G	NF1	c.6756+3A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665160A>G	(Likely) pathogenic	1 lab	4b60baee6e
13:100622697 ZIC5 C>T	13	100622697	100622697	C	T	ZIC5	c.1233G>A	NM_033132.4	NP_149123.2:p.(Pro411=)	NC_000013.10:g.100622697C>T	(Likely) benign	1 lab	4b60d1b1fa
17:29490329 NF1 C>CT	17	29490329	29490330	C	CT	NF1	c.415dup	NM_000267.3	NP_000258.1:p.(Ser139PhefsTer17)	NC_000017.10:g.29490330dup	(Likely) pathogenic	1 lab	4b621844ca
X:106229308 MORC4 C>A	X	106229308	106229308	C	A	MORC4	c.431G>T	NM_024657.5	NP_078933.3:p.(Gly144Val)	NC_000023.10:g.106229308C>A	VUS	1 lab	4b62c5cfb0
12:7043676 ATN1 C>T	12	7043676	7043676	C	T	ATN1	c.214C>T	NM_001007026.1	NP_001007027.1:p.(Arg72Trp)	NC_000012.11:g.7043676C>T	VUS	1 lab	4b634b1dc7
X:71350417 RTL5 A>G	X	71350417	71350417	A	G	RTL5	c.974T>C	NM_001024455.3	NP_001019626.1:p.(Ile325Thr)	NC_000023.10:g.71350417A>G	VUS	1 lab	4b64dffd02
1:44415659 IPO13 C>T	1	44415659	44415659	C	T	IPO13	c.655C>T	NM_014652.4	NP_055467.3:p.(Arg219Cys)	NC_000001.10:g.44415659C>T	VUS	1 lab	4b6549b3ae
15:65942836 SLC24A1 T>C	15	65942836	65942836	T	C	SLC24A1	c.2349T>C	NM_004727.2	NP_004718.1:p.(Gly783=)	NC_000015.9:g.65942836T>C	(Likely) benign	1 lab	4b6800c424
1:216390874 USH2A A>G	1	216390874	216390874	A	G	USH2A	c.3012T>C	NM_206933.2	NP_996816.2:p.(Cys1004=)	NC_000001.10:g.216390874A>G	(Likely) benign	1 lab	4b6857baf3
4:15589454 CC2D2A C>T	4	15589454	15589454	C	T	CC2D2A	c.4081C>T	NM_001080522.2	NP_001073991.2:p.(Leu1361=)	NC_000004.11:g.15589454C>T	(Likely) benign	1 lab	4b6b1f319a
22:40814588 MRTFA G>A	22	40814588	40814588	G	A	MRTFA				NC_000022.10:g.40814588G>A	(Likely) benign	1 lab	4b6be4c476
6:157100104 ARID1B G>A	6	157100104	157100104	G	A	ARID1B	c.1041G>A	NM_020732.3	NP_065783.3:p.(Ala347=)	NC_000006.11:g.157100104G>A	(Likely) benign	1 lab	4b6dbbe974
4:151511895 LRBA C>T	4	151511895	151511895	C	T	LRBA	c.6163G>A	NM_001199282.2	NP_001186211.2:p.(Val2055Met)	NC_000004.11:g.151511895C>T	(Likely) benign	1 lab	4b6e7a52fd
5:13850872 DNAH5 C>T	5	13850872	13850872	C	T	DNAH5	c.5003G>A	NM_001369.2	NP_001360.1:p.(Arg1668Gln)	NC_000005.9:g.13850872C>T	VUS	1 lab	4b711d0d87
1:59155891 MYSM1 T>C	1	59155891	59155891	T	C	MYSM1	c.320+7A>G	NM_001085487.3	NP_001078956.1:p.?	NC_000001.10:g.59155891T>C	(Likely) benign	1 lab	4b719fb4b4
22:39621754 PDGFB C>T	22	39621754	39621754	C	T	PDGFB	c.700G>A	NM_002608.3	NP_002599.1:p.(Ala234Thr)	NC_000022.10:g.39621754C>T	(Likely) benign	1 lab	4b727b1083
14:36986886 NKX2-1 C>A	14	36986886	36986886	C	A	NKX2-1	c.713G>T	NM_003317.3	NP_003308.1:p.(Gly238Val)	NC_000014.8:g.36986886C>A	VUS	1 lab	4b72ef3791
2:239039028 ESPNL C>T	2	239039028	239039028	C	T	ESPNL	c.1673C>T	NM_194312.4	NP_919288.2:p.(Ala558Val)	NC_000002.11:g.239039028C>T	(Likely) benign	1 lab	4b7722a378
3:180377383 CCDC39 G>A	3	180377383	180377383	G	A	CCDC39	c.610-15C>T	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180377383G>A	(Likely) benign	1 lab	4b78fb74f3
12:105445981 ALDH1L2 T>C	12	105445981	105445981	T	C	ALDH1L2	c.1422A>G	NM_001034173.3	NP_001029345.2:p.(Val474=)	NC_000012.11:g.105445981T>C	(Likely) benign	1 lab	4b795249a8
19:51165918 SHANK1 G>A	19	51165918	51165918	G	A	SHANK1	c.5790C>T	NM_016148.4	NP_057232.2:p.(Ser1930=)	NC_000019.9:g.51165918G>A	(Likely) benign	1 lab	4b7b0d1933
1:2235804 SKI C>T	1	2235804	2235804	C	T	SKI	c.1547C>T	NM_003036.3	NP_003027.1:p.(Pro516Leu)	NC_000001.10:g.2235804C>T	VUS	1 lab	4e047a3dc7
7:48142985 UPP1 G>A	7	48142985	48142985	G	A	UPP1	c.413G>A	NM_001287426.1	NP_001274355.1:p.(Arg138His)	NC_000007.13:g.48142985G>A	VUS	1 lab	4b7beb3b81
5:35867500 IL7R G>A	5	35867500	35867500	G	A	IL7R				NC_000005.9:g.35867500G>A	VUS	1 lab	4b7d389fd9
2:179486340 TTN T>C	2	179486340	179486340	T	C	TTN	c.45211A>G	NM_001267550.1	NP_001254479.1:p.(Ile15071Val)	NC_000002.11:g.179486340T>C	VUS	1 lab	4b7e00bd21
X:134481356 ZNF449 A>T	X	134481356	134481356	A	T	ZNF449	c.313A>T	NM_152695.5	NP_689908.3:p.(Ile105Leu)	NC_000023.10:g.134481356A>T	(Likely) benign	1 lab	4b7e4e8e2d
16:2376170 ABCA3 C>T	16	2376170	2376170	C	T	ABCA3	c.160G>A	NM_001089.2	NP_001080.2:p.(Ala54Thr)	NC_000016.9:g.2376170C>T	VUS	1 lab	4e2ba1c39c
11:31784983 ELP4 CAA>C	11	31784983	31784985	CAA	C	ELP4	c.1144-19957_1144-19956del	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31784984_31784985del	VUS	1 lab	4b7eab1a71
X:9727384 GPR143 G>A	X	9727384	9727384	G	A	GPR143	c.443C>T	NM_000273.2	NP_000264.2:p.(Ser148Leu)	NC_000023.10:g.9727384G>A	VUS	1 lab	4b81842a65
17:36484449 GPR179 G>C	17	36484449	36484449	G	C	GPR179	c.5003C>G	NM_001004334.4	NP_001004334.3:p.(Thr1668Arg)	NC_000017.10:g.36484449G>C	VUS	1 lab	ef5225f1bb
X:48681848 HDAC6 A>G	X	48681848	48681848	A	G	HDAC6	c.3039A>G	NM_001321226.1	NP_001308155.1:p.(Pro1013=)	NC_000023.10:g.48681848A>G	(Likely) benign	1 lab	4b8380d585
11:47355268 MYBPC3 CT>C	11	47355268	47355269	CT	C	MYBPC3	c.3029del	NM_000256.3	NP_000247.2:p.(Glu1010GlyfsTer10)	NC_000011.9:g.47355269del	(Likely) pathogenic	1 lab	4b85d5b770
17:1631464 WDR81 G>A	17	1631464	1631464	G	A	WDR81	c.3211G>A	NM_001163809.1	NP_001157281.1:p.(Val1071Ile)	NC_000017.10:g.1631464G>A	VUS	1 lab	4b87615fc3
X:74494157 UPRT C>T	X	74494157	74494157	C	T	UPRT	c.68C>T	NM_001307944.1	NP_001294873.1:p.(Thr23Ile)	NC_000023.10:g.74494157C>T	(Likely) benign	1 lab	4b88285e3c
X:69503119 RAB41 T>C	X	69503119	69503119	T	C	RAB41	c.236T>C	NM_001032726.2	NP_001027898.2:p.(Val79Ala)	NC_000023.10:g.69503119T>C	VUS	1 lab	4b889cd115
19:3011066 TLE2 G>A	19	3011066	3011066	G	A	TLE2	c.966C>T	NM_003260.5	NP_003251.2:p.(His322=)	NC_000019.9:g.3011066G>A	(Likely) benign	1 lab	4b8935bf20
16:88502747 ZNF469 G>A	16	88502747	88502747	G	A	ZNF469				NC_000016.9:g.88502747G>A	(Likely) benign	1 lab	4b8c562b39
18:56205481 ALPK2 G>A	18	56205481	56205481	G	A	ALPK2	c.1963-25C>T	NM_052947.4	NP_443179.3:p.?	NC_000018.9:g.56205481G>A	(Likely) benign	1 lab	4b8d593ae3
21:44272355 WDR4 G>A	21	44272355	44272355	G	A	WDR4	c.1045+10C>T	NM_033661.4	NP_387510.1:p.?	NC_000021.8:g.44272355G>A	(Likely) benign	1 lab	4b8d73bff0
8:103250997 RRM2B G>A	8	103250997	103250997	G	A	RRM2B	c.54C>T	NM_001172477.1	NP_001165948.1:p.(Cys18=)	NC_000008.10:g.103250997G>A	VUS	1 lab	4b8e083a6f
15:85382947 ALPK3 A>T	15	85382947	85382947	A	T	ALPK3	c.437A>T	NM_020778.5	NP_065829.4:p.(Asp146Val)	NC_000015.9:g.85382947A>T	VUS	1 lab	ef582f78c9
19:10225253 PPAN-P2RY11 A>C	19	10225253	10225253	A	C	PPAN-P2RY11	c.2224A>C	NM_001040664.2	NP_001035754.1:p.(Met742Leu)	NC_000019.9:g.10225253A>C	(Likely) benign	1 lab	4b90a75cb9
4:15575950 CC2D2A G>C	4	15575950	15575950	G	C	CC2D2A	c.3771+1G>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15575950G>C	(Likely) pathogenic	1 lab	4b9281aed0
12:52841174 KRT6B C>T	12	52841174	52841174	C	T	KRT6B	c.1495G>A	NM_005555.4	NP_005546.2:p.(Gly499Ser)	NC_000012.11:g.52841174C>T	(Likely) benign	1 lab	ef5c61d272
3:57493410 DNAH12 T>A	3	57493410	57493410	T	A	DNAH12	c.857A>T	NM_001366028.2	NP_001352957.1:p.(Asp286Val)	NC_000003.11:g.57493410T>A	(Likely) benign	1 lab	ef6080e591
X:22291839 CBLL2 A>G	X	22291839	22291839	A	G	CBLL2	c.731A>G	NM_152577.3	NP_689790.1:p.(Gln244Arg)	NC_000023.10:g.22291839A>G	VUS	1 lab	4b97af590c
8:145584614 SLC52A2 C>T	8	145584614	145584614	C	T	SLC52A2	c.1277C>T	NM_024531.4	NP_078807.1:p.(Pro426Leu)	NC_000008.10:g.145584614C>T	VUS	1 lab	4b99437f24
12:49433599 KMT2D T>G	12	49433599	49433599	T	G	KMT2D	c.7954A>C	NM_003482.3	NP_003473.3:p.(Met2652Leu)	NC_000012.11:g.49433599T>G	(Likely) benign	1 lab	4b9a47beab
2:179591911 TTN C>T	2	179591911	179591911	C	T	TTN	c.20181G>A	NM_001267550.1	NP_001254479.1:p.(Met6727Ile)	NC_000002.11:g.179591911C>T	VUS	1 lab	4b9c0c79a7
X:22266059 PHEX C>T	X	22266059	22266059	C	T	PHEX	c.2239C>T	NM_000444.5	NP_000435.3:p.(Arg747Ter)	NC_000023.10:g.22266059C>T	(Likely) pathogenic	1 lab	4b9c4f7aae
17:29559761 NF1 G>C	17	29559761	29559761	G	C	NF1	c.3358G>C	NM_000267.3	NP_000258.1:p.(Val1120Leu)	NC_000017.10:g.29559761G>C	(Likely) benign	1 lab	4b9d193b76
3:155547493 SLC33A1 G>A	3	155547493	155547493	G	A	SLC33A1	c.1466C>T	NM_004733.3	NP_004724.1:p.(Thr489Ile)	NC_000003.11:g.155547493G>A	VUS	1 lab	4b9df49716
6:10404782 TFAP2A G>C	6	10404782	10404782	G	C	TFAP2A	c.705C>G	NM_001032280.2	NP_001027451.1:p.(Pro235=)	NC_000006.11:g.10404782G>C	(Likely) benign	1 lab	4ba0a4299b
1:114453966 DCLRE1B C>T	1	114453966	114453966	C	T	DCLRE1B	c.752C>T	NM_022836.4	NP_073747.1:p.(Thr251Met)	NC_000001.10:g.114453966C>T	VUS	1 lab	4ba1af0416
16:2138227 TSC2 G>A	16	2138227	2138227	G	A	TSC2	c.5161-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138227G>A	VUS	1 lab	4ba3564f25
2:209179036 PIKFYVE G>A	2	209179036	209179036	G	A	PIKFYVE	c.1715G>A	NM_015040.3	NP_055855.2:p.(Arg572Gln)	NC_000002.11:g.209179036G>A	(Likely) benign	1 lab	4ba482b4d5
X:47030466 RBM10 A>C	X	47030466	47030466	A	C	RBM10	c.436A>C	NM_001204468.1	NP_001191397.1:p.(Arg146=)	NC_000023.10:g.47030466A>C	(Likely) benign	1 lab	4ba59386c7
15:89860050 POLG G>A	15	89860050	89860050	G	A	POLG	c.3652C>T	NM_002693.2	NP_002684.1:p.(Leu1218=)	NC_000015.9:g.89860050G>A	(Likely) benign	1 lab	4ba5cc604b
12:122294237 HPD A>G	12	122294237	122294237	A	G	HPD	c.317T>C	NM_002150.3	NP_002141.2:p.(Ile106Thr)	NC_000012.11:g.122294237A>G	VUS	1 lab	ef63002993
2:179404414 TTN A>G	2	179404414	179404414	A	G	TTN	c.98378T>C	NM_001267550.1	NP_001254479.1:p.(Ile32793Thr)	NC_000002.11:g.179404414A>G	VUS	1 lab	4ba7be5ec8
1:201044687 CACNA1S G>A	1	201044687	201044687	G	A	CACNA1S	c.1884C>T	NM_000069.2	NP_000060.2:p.(Gly628=)	NC_000001.10:g.201044687G>A	(Likely) benign	1 lab	4ba986b8ff
19:42489493 ATP1A3 C>T	19	42489493	42489493	C	T	ATP1A3	c.728G>A	NM_001256214.1	NP_001243143.1:p.(Arg243Gln)	NC_000019.9:g.42489493C>T	VUS	1 lab	4ba9bc5e1e
19:39516132 FBXO27 G>T	19	39516132	39516132	G	T	FBXO27	c.771C>A	NM_178820.5	NP_849142.1:p.(Gly257=)	NC_000019.9:g.39516132G>T	(Likely) benign	1 lab	4ba9ecbb15
7:117227991 CFTR G>GA	7	117227991	117227997	G	GA	CFTR	c.1679+110dup	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117227997dup	(Likely) benign	1 lab	4baa61e3af
7:142458451 PRSS1 A>C	7	142458451	142458451	A	C	PRSS1	c.86A>C	NM_002769.5	NP_002760.1:p.(Asn29Thr)	NC_000007.13:g.142458451A>C	(Likely) pathogenic	1 lab	ef6337cbdc
16:46708241 VPS35 T>C	16	46708241	46708241	T	C	VPS35	c.1145A>G	NM_018206.5	NP_060676.2:p.(Lys382Arg)	NC_000016.9:g.46708241T>C	(Likely) benign	1 lab	4bac1204ed
17:29559863 NF1 A>G	17	29559863	29559863	A	G	NF1	c.3460A>G	NM_000267.3	NP_000258.1:p.(Asn1154Asp)	NC_000017.10:g.29559863A>G	VUS	1 lab	4baebe80f9
17:35592004 ACACA G>C	17	35592004	35592004	G	C	ACACA	c.3021C>G	NM_198839.3	NP_942136.1:p.(Asp1007Glu)	NC_000017.10:g.35592004G>C	VUS	1 lab	ef65a9a3a7
3:113025123 CFAP44 G>A	3	113025123	113025123	G	A	CFAP44	c.4683C>T	NM_001164496.2	NP_001157968.1:p.(Asp1561=)	NC_000003.11:g.113025123G>A	(Likely) benign	1 lab	4baee52e5d
1:150990304 PRUNE1 A>G	1	150990304	150990304	A	G	PRUNE1	c.56A>G	NM_021222.2	NP_067045.1:p.(His19Arg)	NC_000001.10:g.150990304A>G	VUS	1 lab	4bb290a2cf
15:76668547 SCAPER T>C	15	76668547	76668547	T	C	SCAPER	c.3829A>G	NM_001353009.1	NP_001339938.1:p.(Ile1277Val)	NC_000015.9:g.76668547T>C	(Likely) benign	1 lab	4bb2a99de9
16:50827469 CYLD G>A	16	50827469	50827469	G	A	CYLD	c.2363G>A	NM_015247.2	NP_056062.1:p.(Cys788Tyr)	NC_000016.9:g.50827469G>A	VUS	1 lab	4bb460749b
11:78369130 TENM4 C>T	11	78369130	78369130	C	T	TENM4	c.8283G>A	NM_001098816.2	NP_001092286.2:p.(Met2761Ile)	NC_000011.9:g.78369130C>T	(Likely) benign	1 lab	4bb692f27d
1:57409499 C8B T>C	1	57409499	57409499	T	C	C8B	c.950-2A>G	NM_001278543.1	NP_001265472.1:p.?	NC_000001.10:g.57409499T>C	(Likely) pathogenic	1 lab	4bb76d9ea1
9:80855096 CEP78 A>G	9	80855096	80855096	A	G	CEP78	c.411A>G	NM_001330691.2	NP_001317620.1:p.(Leu137=)	NC_000009.11:g.80855096A>G	(Likely) benign	1 lab	4bb9ccd480
1:6485305 ESPN T>A	1	6485305	6485305	T	A	ESPN	c.290T>A	NM_031475.3	NP_113663.2:p.(Val97Glu)	NC_000001.10:g.6485305T>A	(Likely) benign	1 lab	4bbbc6f74a
16:27760946 KATNIP C>T	16	27760946	27760946	C	T	KATNIP	c.2665C>T	NM_015202.3	NP_056017.3:p.(Arg889Cys)	NC_000016.9:g.27760946C>T	VUS	1 lab	4bbd4f6b09
7:97821218 LMTK2 G>A	7	97821218	97821218	G	A	LMTK2	c.1441G>A	NM_014916.3	NP_055731.2:p.(Ala481Thr)	NC_000007.13:g.97821218G>A	VUS	1 lab	4bbdbf55cc
15:89833459 FANCI C>T	15	89833459	89833459	C	T	FANCI	c.1837C>T	NM_001113378.1	NP_001106849.1:p.(Leu613Phe)	NC_000015.9:g.89833459C>T	VUS	1 lab	4bc0c2a4da
7:40173945 MPLKIP CG>C	7	40173945	40173948	CG	C	MPLKIP	c.221del	NM_138701.4	NP_619646.1:p.(Pro74ArgfsTer79)	NC_000007.13:g.40173948del	(Likely) pathogenic	1 lab	4bc23a1157
6:80626417 ELOVL4 CA>C	6	80626417	80626418	CA	C	ELOVL4	c.852del	NM_022726.4	NP_073563.1:p.(Asn284LysfsTer8)	NC_000006.11:g.80626418del	(Likely) pathogenic	1 lab	4bc4fd3564
6:80197282 LCA5 G>T	6	80197282	80197282	G	T	LCA5	c.1533C>A	NM_181714.3	NP_859065.2:p.(Phe511Leu)	NC_000006.11:g.80197282G>T	VUS	1 lab	4bc5bc66e2
X:67937306 STARD8 C>T	X	67937306	67937306	C	T	STARD8	c.550C>T	NM_001142503.2	NP_001135975.1:p.(Arg184Trp)	NC_000023.10:g.67937306C>T	(Likely) benign	1 lab	4bc5c364cd
20:61444837 OGFR C>T	20	61444837	61444837	C	T	OGFR	c.1870C>T	NM_007346.3	NP_031372.2:p.(Pro624Ser)	NC_000020.10:g.61444837C>T	(Likely) benign	1 lab	4bc6fffce9
14:23895285 MYH7 T>C	14	23895285	23895285	T	C	MYH7	c.2050A>G	NM_000257.2	NP_000248.2:p.(Met684Val)	NC_000014.8:g.23895285T>C	VUS	1 lab	4bc7344646
6:152443667 SYNE1 T>C	6	152443667	152443667	T	C	SYNE1	c.26298A>G	NM_182961.3	NP_892006.3:p.(Pro8766=)	NC_000006.11:g.152443667T>C	(Likely) benign	1 lab	4bc7f2f0df
15:85383179 ALPK3 A>T	15	85383179	85383179	A	T	ALPK3	c.1275A>T	NM_020778.4	NP_065829.3:p.(Arg425=)	NC_000015.9:g.85383179A>T	VUS	1 lab	4bc9a72c9e
16:703530 WDR90 C>T	16	703530	703530	C	T	WDR90	c.1239C>T	NM_145294.5	NP_660337.3:p.(Ser413=)	NC_000016.9:g.703530C>T	(Likely) benign	1 lab	4bc9b3c1c0
8:16035498 MSR1 A>G	8	16035498	16035498	A	G	MSR1	c.-1T>C	NM_138715.2	NP_619729.1:p.?	NC_000008.10:g.16035498A>G	(Likely) benign	1 lab	4bca437dd5
17:26875053 UNC119 G>A	17	26875053	26875053	G	A	UNC119	c.401C>T	NM_054035.2	NP_473376.1:p.(Thr134Met)	NC_000017.10:g.26875053G>A	VUS	1 lab	4bca61ee68
9:133920944 LAMC3 C>A	9	133920944	133920944	C	A	LAMC3	c.1416C>A	NM_006059.3	NP_006050.3:p.(His472Gln)	NC_000009.11:g.133920944C>A	(Likely) benign	1 lab	4bcaa73477
10:73330578 CDH23 T>A	10	73330578	73330578	T	A	CDH23	c.656T>A	NM_022124.5	NP_071407.4:p.(Leu219Gln)	NC_000010.10:g.73330578T>A	VUS	1 lab	4bcadb9c40
2:167144974 SCN9A A>T	2	167144974	167144974	A	T	SCN9A	c.1287T>A	NM_002977.3	NP_002968.1:p.(Arg429=)	NC_000002.11:g.167144974A>T	(Likely) benign	1 lab	ef67f72c15
13:35770334 NBEA C>T	13	35770334	35770334	C	T	NBEA	c.5261C>T	NM_015678.5	NP_056493.3:p.(Pro1754Leu)	NC_000013.10:g.35770334C>T	(Likely) pathogenic	1 lab	ef691c4884
16:2124269 TSC2 GTC>T	16	2124269	2124271	GTC	T	TSC2	c.2424_2426delinsT	NM_000548.3	NP_000539.2:p.(Leu808PhefsTer9)	NC_000016.9:g.2124269_2124271delinsT	(Likely) pathogenic	1 lab	4bccdaffaf
4:94159530 GRID2 T>C	4	94159530	94159530	T	C	GRID2	c.1134T>C	NM_001510.3	NP_001501.2:p.(Val378=)	NC_000004.11:g.94159530T>C	(Likely) benign	1 lab	4bcce4d3db
8:38111229 DDHD2 T>A	8	38111229	38111229	T	A	DDHD2	c.2047T>A	NM_015214.2	NP_056029.2:p.(Cys683Ser)	NC_000008.10:g.38111229T>A	(Likely) benign	1 lab	4bcf5d3006
2:179650718 TTN C>T	2	179650718	179650718	C	T	TTN	c.2227G>A	NM_001267550.1	NP_001254479.1:p.(Ala743Thr)	NC_000002.11:g.179650718C>T	(Likely) benign	1 lab	4bd01f87ca
9:13190163 MPDZ C>T	9	13190163	13190163	C	T	MPDZ	c.2104G>A	NM_003829.4	NP_003820.2:p.(Glu702Lys)	NC_000009.11:g.13190163C>T	(Likely) benign	1 lab	4bd091b86d
1:27874278 AHDC1 G>C	1	27874278	27874278	G	C	AHDC1	c.4349C>G	NM_001029882.3	NP_001025053.1:p.(Pro1450Arg)	NC_000001.10:g.27874278G>C	VUS	1 lab	4bd0995c76
1:117146420 IGSF3 C>T	1	117146420	117146420	C	T	IGSF3	c.1510G>A	NM_001542.4	NP_001533.2:p.(Val504Ile)	NC_000001.10:g.117146420C>T	(Likely) benign	1 lab	4bd138f5a4
2:198570604 MARS2 C>G	2	198570604	198570604	C	G	MARS2	c.475C>G	NM_138395.3	NP_612404.1:p.(Leu159Val)	NC_000002.11:g.198570604C>G	(Likely) benign	1 lab	4bd1c97b3a
15:62273686 VPS13C G>A	15	62273686	62273686	G	A	VPS13C	c.2030-9C>T	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62273686G>A	(Likely) benign	1 lab	4bd2a45a9c
19:50482363 VRK3 C>T	19	50482363	50482363	C	T	VRK3	c.1413G>A	NM_016440.4	NP_057524.3:p.(Pro471=)	NC_000019.9:g.50482363C>T	(Likely) benign	1 lab	4bd2d48a0e
2:26486319 HADHB C>T	2	26486319	26486319	C	T	HADHB	c.115C>T	NM_001281513.1	NP_001268442.1:p.(Arg39Cys)	NC_000002.11:g.26486319C>T	(Likely) pathogenic	1 lab	4bd41c6f7e
3:142272186 ATR C>T	3	142272186	142272186	C	T	ATR	c.2688G>A	NM_001184.3	NP_001175.2:p.(Leu896=)	NC_000003.11:g.142272186C>T	(Likely) benign	1 lab	4bd7d01255
11:6647410 DCHS1 G>A	11	6647410	6647410	G	A	DCHS1				NC_000011.9:g.6647410G>A	VUS	1 lab	dcc28269b7
17:44074023 MAPT G>T	17	44074023	44074023	G	T	MAPT	c.815G>T	NM_005910.5	NP_005901.2:p.(Gly272Val)	NC_000017.10:g.44074023G>T	(Likely) pathogenic	1 lab	4bd8252a9a
11:78383268 TENM4 G>A	11	78383268	78383268	G	A	TENM4	c.5603C>T	NM_001098816.2	NP_001092286.2:p.(Ala1868Val)	NC_000011.9:g.78383268G>A	VUS	1 lab	4bd90e8f47
2:179399634 TTN C>T	2	179399634	179399634	C	T	TTN	c.101708G>A	NM_001267550.2	NP_001254479.2:p.(Arg33903His)	NC_000002.11:g.179399634C>T	(Likely) benign	1 lab	ef6a7282c9
12:52180611 SCN8A G>T	12	52180611	52180611	G	T	SCN8A	c.4227+1G>T	NM_001330260.1	NP_001317189.1:p.?	NC_000012.11:g.52180611G>T	(Likely) pathogenic	1 lab	4bda17ec6d
16:2546596 TBC1D24 C>T	16	2546596	2546596	C	T	TBC1D24	c.447C>T	NM_001199107.1	NP_001186036.1:p.(Ala149=)	NC_000016.9:g.2546596C>T	(Likely) benign	1 lab	4bdaa880ca
17:73736502 ITGB4 C>T	17	73736502	73736502	C	T	ITGB4	c.2510C>T	NM_000213.4	NP_000204.3:p.(Thr837Ile)	NC_000017.10:g.73736502C>T	VUS	1 lab	4bdb38c7d5
19:6495829 TUBB4A G>A	19	6495829	6495829	G	A	TUBB4A	c.681C>T	NM_006087.4	NP_006078.2:p.(His227=)	NC_000019.9:g.6495829G>A	(Likely) benign	1 lab	4bdbf5ac4d
X:151869937 MAGEA6 C>T	X	151869937	151869937	C	T	MAGEA6	c.627C>T	NM_175868.2	NP_787064.1:p.(Ile209=)	NC_000023.10:g.151869937C>T	(Likely) benign	1 lab	4bdc433f02
14:74960790 ISCA2 G>A	14	74960790	74960790	G	A	ISCA2	c.109G>A	NM_194279.3	NP_919255.2:p.(Glu37Lys)	NC_000014.8:g.74960790G>A	(Likely) benign	1 lab	4bdd8fbfce
13:114438218 GRK1 C>T	13	114438218	114438218	C	T	GRK1	c.1574C>T	NM_002929.3	NP_002920.1:p.(Thr525Met)	NC_000013.10:g.114438218C>T	(Likely) benign	1 lab	4bde106360
18:34320643 FHOD3 G>T	18	34320643	34320643	G	T	FHOD3	c.3601G>T	NM_001281740.2	NP_001268669.1:p.(Asp1201Tyr)	NC_000018.9:g.34320643G>T	VUS	1 lab	4bdf367a44
8:61735304 CHD7 A>G	8	61735304	61735304	A	G	CHD7				NC_000008.10:g.61735304A>G	(Likely) pathogenic	1 lab	502453bb4b
X:10181987 CLCN4 G>C	X	10181987	10181987	G	C	CLCN4	c.1843G>C	NM_001830.3	NP_001821.2:p.(Asp615His)	NC_000023.10:g.10181987G>C	VUS	1 lab	4bdf854399
15:48782052 FBN1 G>A	15	48782052	48782052	G	A	FBN1	c.3078C>T	NM_000138.4	NP_000129.3:p.(Phe1026=)	NC_000015.9:g.48782052G>A	(Likely) benign	1 lab	4bdfc8bb66
17:16593809 CCDC144A AGGGGGACCAGTGGTACTTGGGCTACCC>A	17	16593809	16593850	AGGGGGACCAGTGGTACTTGGGCTACCC	A	CCDC144A	c.110_136del	NM_001382000.1	NP_001368929.1:p.(Tyr37_Trp45del)	NC_000017.10:g.16593824_16593850del	(Likely) benign	1 lab	4be0b184a3
19:42486088 ATP1A3 G>T	19	42486088	42486088	G	T	ATP1A3	c.1203C>A	NM_001256214.1	NP_001243143.1:p.(His401Gln)	NC_000019.9:g.42486088G>T	(Likely) benign	1 lab	4be18728b6
20:55758836 BMP7 G>T	20	55758836	55758836	G	T	BMP7	c.900C>A	NM_001719.2	NP_001710.1:p.(Ser300Arg)	NC_000020.10:g.55758836G>T	(Likely) benign	1 lab	4be3e68e17
X:77913801 RTL3 C>T	X	77913801	77913801	C	T	RTL3	c.117G>A	NM_152694.2	NP_689907.1:p.(Glu39=)	NC_000023.10:g.77913801C>T	(Likely) benign	1 lab	4be4263294
9:135797306 TSC1 AAG>A	9	135797306	135797310	AAG	A	TSC1	c.561_562del	NM_000368.5	NP_000359.1:p.(Phe188SerfsTer29)	NC_000009.11:g.135797309_135797310del	(Likely) pathogenic	1 lab	4be4972a2d
18:6985506 LAMA1 T>C	18	6985506	6985506	T	C	LAMA1	c.5496+20A>G	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6985506T>C	(Likely) benign	1 lab	ef6b104d90
1:204985583 NFASC G>C	1	204985583	204985583	G	C	NFASC	c.3639G>C	NM_001005388.2	NP_001005388.2:p.(Thr1213=)	NC_000001.10:g.204985583G>C	(Likely) benign	1 lab	4be80b9ed1
6:33271908 TAPBP C>T	6	33271908	33271908	C	T	TAPBP	c.1297G>A	NM_003190.4	NP_003181.3:p.(Ala433Thr)	NC_000006.11:g.33271908C>T	(Likely) benign	1 lab	4be83d0b6e
12:65137006 GNS G>T	12	65137006	65137006	G	T	GNS	c.707C>A	NM_002076.3	NP_002067.1:p.(Ser236Ter)	NC_000012.11:g.65137006G>T	(Likely) pathogenic	1 lab	4be8e096ac
20:57466849 GNAS A>G	20	57466849	57466849	A	G	GNAS	c.68A>G	NM_001077488.3	NP_001070956.1:p.(Asn23Ser)	NC_000020.10:g.57466849A>G	(Likely) benign	1 lab	4bea7f8da6
X:102565290 BEX2 G>A	X	102565290	102565290	G	A	BEX2	c.87C>T	NM_001168399.1	NP_001161871.1:p.(Gly29=)	NC_000023.10:g.102565290G>A	(Likely) benign	1 lab	4becacaca3
19:50370353 PNKP G>C	19	50370353	50370353	G	C	PNKP	c.109C>G	NM_007254.3	NP_009185.2:p.(Pro37Ala)	NC_000019.9:g.50370353G>C	VUS	1 lab	4befe86f27
16:2113048 TSC2 C>CTT	16	2113048	2113050	C	CTT	TSC2	c.1438_1439insTT	NM_000548.3	NP_000539.2:p.(Tyr480PhefsTer6)	NC_000016.9:g.2113049_2113050insTT	(Likely) pathogenic	1 lab	4bf0308dbe
14:24731026 TGM1 T>C	14	24731026	24731026	T	C	TGM1	c.383A>G	NM_000359.2	NP_000350.1:p.(Glu128Gly)	NC_000014.8:g.24731026T>C	(Likely) benign	1 lab	4bf2cd16b3
16:2137931 TSC2 A>C	16	2137931	2137931	A	C	TSC2	c.5057A>C	NM_000548.3	NP_000539.2:p.(Gln1686Pro)	NC_000016.9:g.2137931A>C	(Likely) pathogenic	1 lab	4bf2d6cda4
X:48458867 WDR13 C>G	X	48458867	48458867	C	G	WDR13	c.684C>G	NM_001347217.2	NP_001334146.1:p.(Ser228=)	NC_000023.10:g.48458867C>G	(Likely) benign	1 lab	4bf3aa025e
X:39921500 BCOR A>G	X	39921500	39921500	A	G	BCOR	c.4320T>C	NM_001123385.1	NP_001116857.1:p.(Pro1440=)	NC_000023.10:g.39921500A>G	(Likely) benign	1 lab	4bf4248489
16:56536315 BBS2 T>A	16	56536315	56536315	T	A	BBS2	c.994A>T	NM_031885.3	NP_114091.3:p.(Ser332Cys)	NC_000016.9:g.56536315T>A	VUS	1 lab	4bf4a1406a
8:145748316 LRRC24 A>G	8	145748316	145748316	A	G	LRRC24	c.1085T>C	NM_001024678.4	NP_001019849.2:p.(Val362Ala)	NC_000008.10:g.145748316A>G	VUS	1 lab	4bf61b65bb
19:10461613 TYK2 G>A	19	10461613	10461613	G	A	TYK2	c.3461C>T	NM_003331.4	NP_003322.3:p.(Thr1154Ile)	NC_000019.9:g.10461613G>A	(Likely) benign	1 lab	4bf7988a83
X:152845738 ATP2B3 C>A	X	152845738	152845738	C	A	ATP2B3	c.3645C>A	NM_001001344.2	NP_001001344.1:p.(Ser1215Arg)	NC_000023.10:g.152845738C>A	VUS	1 lab	4bf87e9a57
11:103069964 DYNC2H1 T>C	11	103069964	103069964	T	C	DYNC2H1	c.7847T>C	NM_001080463.1	NP_001073932.1:p.(Ile2616Thr)	NC_000011.9:g.103069964T>C	(Likely) benign	1 lab	4bf97b5108
9:127253468 NR5A1 G>C	9	127253468	127253468	G	C	NR5A1	c.1030C>G	NM_004959.4	NP_004950.2:p.(Leu344Val)	NC_000009.11:g.127253468G>C	VUS	1 lab	4bf9bb7ea0
12:133252684 POLE T>A	12	133252684	133252684	T	A	POLE	c.1016A>T	NM_006231.3	NP_006222.2:p.(Asp339Val)	NC_000012.11:g.133252684T>A	VUS	1 lab	4bfa45b8bf
2:48026543 MSH6 TGCAGAAGG>T	2	48026543	48026553	TGCAGAAGG	T	MSH6	c.1424_1431del	NM_000179.3	NP_000170.1:p.(Gln475LeufsTer2)	NC_000002.11:g.48026546_48026553del	(Likely) pathogenic	1 lab	ef6c5293b4
11:1271363 MUC5B C>T	11	1271363	1271363	C	T	MUC5B	c.13253C>T	NM_002458.2	NP_002449.2:p.(Thr4418Ile)	NC_000011.9:g.1271363C>T	VUS	1 lab	4bfb154798
2:175436943 WIPF1 C>T	2	175436943	175436943	C	T	WIPF1	c.590G>A	NM_001077269.1	NP_001070737.1:p.(Ser197Asn)	NC_000002.11:g.175436943C>T	VUS	1 lab	4bfe1dd40b
22:36662050 APOL1 A>G	22	36662050	36662050	A	G	APOL1	c.1216A>G	NM_145343.2	NP_663318.1:p.(Lys406Glu)	NC_000022.10:g.36662050A>G	(Likely) benign	1 lab	4c01ea7b47
2:86266525 POLR1A G>A	2	86266525	86266525	G	A	POLR1A	c.3801C>T	NM_015425.5	NP_056240.2:p.(Pro1267=)	NC_000002.11:g.86266525G>A	(Likely) benign	1 lab	4c02ba7913
6:16328491 ATXN1 G>A	6	16328491	16328491	G	A	ATXN1	c.22C>T	NM_001357857.1	NP_001344786.1:p.(Arg8Ter)	NC_000006.11:g.16328491G>A	VUS	1 lab	4c03bbab5c
1:235972503 LYST C>T	1	235972503	235972503	C	T	LYST	c.1615G>A	NM_001301365.1	NP_001288294.1:p.(Gly539Arg)	NC_000001.10:g.235972503C>T	VUS	1 lab	4c04fea5c8
10:123549749 ATE1 A>G	10	123549749	123549749	A	G	ATE1	c.1292T>C	NM_001288736.1	NP_001275665.1:p.(Ile431Thr)	NC_000010.10:g.123549749A>G	VUS	1 lab	4c0719dc97
19:1465498 APC2 G>A	19	1465498	1465498	G	A	APC2	c.2198G>A	NM_005883.2	NP_005874.1:p.(Arg733Gln)	NC_000019.9:g.1465498G>A	(Likely) benign	1 lab	4c0794ac9f
10:126091487 OAT G>T	10	126091487	126091487	G	T	OAT	c.900+9C>A	NM_001322966.1	NP_001309895.1:p.?	NC_000010.10:g.126091487G>T	(Likely) benign	1 lab	4c090eb681
7:45115396 CCM2 G>T	7	45115396	45115396	G	T	CCM2	c.1075G>T	NM_031443.3	NP_113631.1:p.(Glu359Ter)	NC_000007.13:g.45115396G>T	(Likely) pathogenic	1 lab	4c0b346b33
6:149719102 TAB2 C>T	6	149719102	149719102	C	T	TAB2	c.1765-3C>T	NM_015093.5	NP_055908.1:p.?	NC_000006.11:g.149719102C>T	(Likely) benign	1 lab	4c0fe35f55
18:67843929 RTTN C>T	18	67843929	67843929	C	T	RTTN	c.1458G>A	NM_173630.3	NP_775901.3:p.(Thr486=)	NC_000018.9:g.67843929C>T	(Likely) benign	1 lab	4c10e4c78e
17:29559144 NF1 C>G	17	29559144	29559144	C	G	NF1	c.3251C>G	NM_000267.3	NP_000258.1:p.(Pro1084Arg)	NC_000017.10:g.29559144C>G	VUS	1 lab	4c115df076
11:89424089 FOLH1B G>A	11	89424089	89424089	G	A	FOLH1B	c.739G>A	NM_153696.2	NP_710163.1:p.(Val247Ile)	NC_000011.9:g.89424089G>A	(Likely) benign	1 lab	4c11b0b579
17:66339812 ARSG C>G	17	66339812	66339812	C	G	ARSG	c.286C>G	NM_001352910.1	NP_001339839.1:p.(Leu96Val)	NC_000017.10:g.66339812C>G	VUS	1 lab	4c12d49981
20:8717722 PLCB1 G>A	20	8717722	8717722	G	A	PLCB1	c.2091G>A	NM_182734.2	NP_877398.1:p.(Val697=)	NC_000020.10:g.8717722G>A	(Likely) benign	1 lab	4c13f709d3
18:55280843 NARS1 G>A	18	55280843	55280843	G	A	NARS1	c.412C>T	NM_004539.4	NP_004530.1:p.(Arg138Cys)	NC_000018.9:g.55280843G>A	VUS	1 lab	ef6e671301
6:170175420 ERMARD G>C	6	170175420	170175420	G	C	ERMARD	c.1372G>C	NM_018341.2	NP_060811.1:p.(Glu458Gln)	NC_000006.11:g.170175420G>C	(Likely) benign	1 lab	4c157fbe24
6:157099144 ARID1B G>T	6	157099144	157099144	G	T	ARID1B	c.81G>T	NM_001346813.1	NP_001333742.1:p.(Glu27Asp)	NC_000006.11:g.157099144G>T	VUS	1 lab	4c16b12664
12:76740802 BBS10 ATAAC>A	12	76740802	76740813	ATAAC	A	BBS10	c.959_962del	NM_024685.4	NP_078961.3:p.(Ser320IlefsTer5)	NC_000012.11:g.76740810_76740813del	(Likely) pathogenic	1 lab	4c16c580b2
19:42486235 ATP1A3 C>T	19	42486235	42486235	C	T	ATP1A3	c.1056G>A	NM_001256214.1	NP_001243143.1:p.(Lys352=)	NC_000019.9:g.42486235C>T	(Likely) benign	1 lab	4c17b48cfd
7:103393620 RELN A>G	7	103393620	103393620	A	G	RELN	c.577+9T>C	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103393620A>G	(Likely) benign	1 lab	4c18300670
X:54783431 ITIH6 C>A	X	54783431	54783431	C	A	ITIH6	c.3076G>T	NM_198510.2	NP_940912.1:p.(Ala1026Ser)	NC_000023.10:g.54783431C>A	(Likely) benign	1 lab	4c1bdaf71c
11:66331591 CTSF T>C	11	66331591	66331591	T	C	CTSF	c.1348A>G	NM_003793.3	NP_003784.2:p.(Lys450Glu)	NC_000011.9:g.66331591T>C	VUS	1 lab	4c1c330508
16:68349971 PRMT7 T>C	16	68349971	68349971	T	C	PRMT7	c.89T>C	NM_001351143.1	NP_001338072.1:p.(Ile30Thr)	NC_000016.9:g.68349971T>C	VUS	1 lab	4c1f98e0b3
X:5821360 NLGN4X G>A	X	5821360	5821360	G	A	NLGN4X	c.1359C>T	NM_001282145.1	NP_001269074.1:p.(Ala453=)	NC_000023.10:g.5821360G>A	(Likely) benign	1 lab	4c21b80bfd
17:78064197 CCDC40 GAAC>G	17	78064197	78064204	GAAC	G	CCDC40	c.2832+519_2832+521del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064202_78064204del	(Likely) benign	1 lab	4c21e281ed
7:128043751 IMPDH1 G>A	7	128043751	128043751	G	A	IMPDH1	c.402+9C>T	NM_000883.3	NP_000874.2:p.?	NC_000007.13:g.128043751G>A	(Likely) benign	1 lab	4c236b159e
21:46876654 COL18A1 G>A	21	46876654	46876654	G	A	COL18A1	c.1210G>A	NM_130444.3	NP_569711.2:p.(Ala404Thr)	NC_000021.8:g.46876654G>A	(Likely) benign	1 lab	4c23fcaab5
3:184041328 EIF4G1 A>G	3	184041328	184041328	A	G	EIF4G1	c.2224A>G	NM_182917.4	NP_886553.3:p.(Thr742Ala)	NC_000003.11:g.184041328A>G	(Likely) benign	1 lab	4c24440b56
16:88494126 ZNF469 C>T	16	88494126	88494126	C	T	ZNF469				NC_000016.9:g.88494126C>T	(Likely) benign	1 lab	4c24adc873
2:219526193 BCS1L G>A	2	219526193	219526193	G	A	BCS1L	c.385G>A	NM_004328.4	NP_004319.1:p.(Gly129Arg)	NC_000002.11:g.219526193G>A	(Likely) pathogenic	1 lab	4c24f95d69
19:12760734 MAN2B1 C>T	19	12760734	12760734	C	T	MAN2B1	c.2260G>A	NM_000528.3	NP_000519.2:p.(Glu754Lys)	NC_000019.9:g.12760734C>T	(Likely) benign	1 lab	4c25f1dba3
3:14199886 XPC C>T	3	14199886	14199886	C	T	XPC	c.1497G>A	NM_004628.4	NP_004619.3:p.(Ala499=)	NC_000003.11:g.14199886C>T	(Likely) benign	1 lab	4c2605f69c
1:40235801 OXCT2 A>C	1	40235801	40235801	A	C	OXCT2	c.1127T>G	NM_022120.1	NP_071403.1:p.(Phe376Cys)	NC_000001.10:g.40235801A>C	VUS	1 lab	4c272172be
16:30749435 SRCAP G>C	16	30749435	30749435	G	C	SRCAP	c.8074G>C	NM_006662.2	NP_006653.2:p.(Glu2692Gln)	NC_000016.9:g.30749435G>C	(Likely) benign	1 lab	4c27fd80c4
2:179632585 TTN A>C	2	179632585	179632585	A	C	TTN	c.9372T>G	NM_001267550.1	NP_001254479.1:p.(Ala3124=)	NC_000002.11:g.179632585A>C	(Likely) benign	1 lab	4c2964c55c
19:17951089 JAK3 G>C	19	17951089	17951089	G	C	JAK3	c.1204C>G	NM_000215.4	NP_000206.2:p.(Arg402Gly)	NC_000019.9:g.17951089G>C	(Likely) pathogenic	1 lab	ef6f46bf12
19:46444090 NOVA2 C>A	19	46444090	46444090	C	A	NOVA2	c.510G>T	NM_002516.4	NP_002507.1:p.(Pro170=)	NC_000019.9:g.46444090C>A	(Likely) benign	1 lab	4c2ba7e6ae
5:110428276 WDR36 A>G	5	110428276	110428276	A	G	WDR36	c.290A>G	NM_139281.2	NP_644810.1:p.(Tyr97Cys)	NC_000005.9:g.110428276A>G	VUS	1 lab	4c2bdb6f31
9:95080935 NOL8 G>C	9	95080935	95080935	G	C	NOL8	c.247C>G	NM_001256394.1	NP_001243323.1:p.(Pro83Ala)	NC_000009.11:g.95080935G>C	VUS	1 lab	4c2c81f501
1:27100181 ARID1A CGCAGCAGCA>C	1	27100181	27100205	CGCAGCAGCA	C	ARID1A	c.3993_4001del	NM_006015.6	NP_006006.3:p.(Gln1332_Gln1334del)	NC_000001.10:g.27100197_27100205del	VUS	1 lab	4c30435cc9
6:116866670 TRAPPC3L C>A	6	116866670	116866670	C	A	TRAPPC3L	c.8G>T	NM_001139444.2	NP_001132916.1:p.(Arg3Leu)	NC_000006.11:g.116866670C>A	VUS	1 lab	4c32f5ef3b
2:242793287 PDCD1 G>A	2	242793287	242793287	G	A	PDCD1	c.790C>T	NM_005018.3	NP_005009.2:p.(Arg264Cys)	NC_000002.11:g.242793287G>A	VUS	1 lab	ef706e71e4
12:49434784 KMT2D C>T	12	49434784	49434784	C	T	KMT2D	c.6769G>A	NM_003482.4	NP_003473.3:p.(Val2257Met)	NC_000012.11:g.49434784C>T	(Likely) benign	1 lab	ef716fdeb1
9:135779207 TSC1 G>GA	9	135779207	135779208	G	GA	TSC1	c.2042-4dup	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135779208dup	(Likely) benign	1 lab	4c35fd07c2
17:36482449 GPR179 ACT>A	17	36482449	36482452	ACT	A	GPR179	c.7001_7002del	NM_001004334.4	NP_001004334.3:p.(Glu2334ValfsTer8)	NC_000017.10:g.36482451_36482452del	VUS	1 lab	4c36acc88f
19:36218843 KMT2B C>T	19	36218843	36218843	C	T	KMT2B	c.4454C>T	NM_014727.2	NP_055542.1:p.(Pro1485Leu)	NC_000019.9:g.36218843C>T	(Likely) benign	1 lab	4c36acfaba
2:179470358 TTN ACTGCGGGG>A	2	179470358	179470368	ACTGCGGGG	A	TTN	c.53656_53663del	NM_001267550.2	NP_001254479.2:p.(Pro17886Ter)	NC_000002.11:g.179470361_179470368del	(Likely) pathogenic	1 lab	4c36c73962
9:79322939 PRUNE2 T>C	9	79322939	79322939	T	C	PRUNE2	c.4251A>G	NM_015225.3	NP_056040.2:p.(Thr1417=)	NC_000009.11:g.79322939T>C	(Likely) benign	1 lab	4c374fb883
X:147743861 AFF2 C>T	X	147743861	147743861	C	T	AFF2	c.613C>T	NM_002025.3	NP_002016.2:p.(Gln205Ter)	NC_000023.10:g.147743861C>T	(Likely) pathogenic	1 lab	4c39b109d6
3:138664911 FOXL2 G>A	3	138664911	138664911	G	A	FOXL2	c.654C>T	NM_023067.4	NP_075555.1:p.(Cys218=)	NC_000003.11:g.138664911G>A	(Likely) benign	1 lab	4c3a5dac1c
14:20216273 OR4Q3 C>A	14	20216273	20216273	C	A	OR4Q3	c.687C>A	NM_172194.1	NP_751944.1:p.(His229Gln)	NC_000014.8:g.20216273C>A	(Likely) benign	1 lab	4c3b3f9890
X:15353623 PIGA C>T	X	15353623	15353623	C	T	PIGA	c.-63G>A	NM_002641.4	NP_002632.1:p.?	NC_000023.10:g.15353623C>T	VUS	1 lab	ef73883a47
5:172660048 NKX2-5 C>T	5	172660048	172660048	C	T	NKX2-5	c.499G>A	NM_004387.3	NP_004378.1:p.(Glu167Lys)	NC_000005.9:g.172660048C>T	(Likely) pathogenic	1 lab	4c3c132cd6
10:70770685 KIFBP C>G	10	70770685	70770685	C	G	KIFBP	c.904C>G	NM_015634.3	NP_056449.1:p.(Leu302Val)	NC_000010.10:g.70770685C>G	VUS	1 lab	4c3cb3d909
10:102753170 TWNK C>T	10	102753170	102753170	C	T	TWNK	c.1958C>T	NM_021830.4	NP_068602.2:p.(Ser653Phe)	NC_000010.10:g.102753170C>T	(Likely) benign	1 lab	4c3d3ad27f
10:53667285 PRKG1 C>A	10	53667285	53667285	C	A	PRKG1	c.672C>A	NM_001098512.3	NP_001091982.1:p.(Ser224Arg)	NC_000010.10:g.53667285C>A	(Likely) benign	1 lab	4c3fd35c63
16:15812194 MYH11 C>T	16	15812194	15812194	C	T	MYH11	c.5294G>A	NM_001040113.1	NP_001035202.1:p.(Arg1765Gln)	NC_000016.9:g.15812194C>T	VUS	1 lab	4c41bd46ba
2:212543779 ERBB4 A>C	2	212543779	212543779	A	C	ERBB4	c.1620T>G	NM_005235.2	NP_005226.1:p.(Asp540Glu)	NC_000002.11:g.212543779A>C	(Likely) benign	1 lab	4c422d8540
8:41791978 KAT6A G>T	8	41791978	41791978	G	T	KAT6A	c.3760C>A	NM_006766.4	NP_006757.2:p.(Pro1254Thr)	NC_000008.10:g.41791978G>T	VUS	1 lab	4c42ce4327
1:97544558 DPYD G>C	1	97544558	97544558	G	C	DPYD	c.3052C>G	NM_000110.3	NP_000101.2:p.(Pro1018Ala)	NC_000001.10:g.97544558G>C	(Likely) benign	1 lab	4c434e25a6
19:4702647 DPP9 C>T	19	4702647	4702647	C	T	DPP9	c.851G>A	NM_139159.4	NP_631898.3:p.(Gly284Glu)	NC_000019.9:g.4702647C>T	VUS	1 lab	4c43ad4fd2
6:56485458 DST C>G	6	56485458	56485458	C	G	DST	c.3374G>C	NM_001723.5	NP_001714.1:p.(Arg1125Pro)	NC_000006.11:g.56485458C>G	(Likely) benign	1 lab	4c443c3376
17:56289717 MKS1 TGCA>T	17	56289717	56289721	TGCA	T	MKS1	c.915+19_915+21del	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56289719_56289721del	(Likely) benign	1 lab	4c44a52789
2:16082844 MYCN G>C	2	16082844	16082844	G	C	MYCN	c.658G>C	NM_005378.5	NP_005369.2:p.(Ala220Pro)	NC_000002.11:g.16082844G>C	(Likely) benign	1 lab	4c44bb92c3
21:46932257 COL18A1 A>G	21	46932257	46932257	A	G	COL18A1	c.5201A>G	NM_130444.3	NP_569711.2:p.(His1734Arg)	NC_000021.8:g.46932257A>G	(Likely) benign	1 lab	4c45186a84
12:109654499 ACACB C>G	12	109654499	109654499	C	G	ACACB	c.3427C>G	NM_001093.3	NP_001084.3:p.(His1143Asp)	NC_000012.11:g.109654499C>G	(Likely) benign	1 lab	4c45747b86
X:153736922 FAM3A C>T	X	153736922	153736922	C	T	FAM3A	c.200G>A	NM_001282311.1	NP_001269240.1:p.(Arg67Gln)	NC_000023.10:g.153736922C>T	(Likely) benign	1 lab	4c463045c1
2:179523427 TTN C>A	2	179523427	179523427	C	A	TTN	c.37543+5G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179523427C>A	VUS	1 lab	4c476d2c18
12:9020435 A2ML1 CA>C	12	9020435	9020436	CA	C	A2ML1	c.3718-2del	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9020436del	(Likely) pathogenic	1 lab	4c47a958d2
6:30608371 ATAT1 A>G	6	30608371	30608371	A	G	ATAT1	c.643A>G	NM_024909.3	NP_079185.2:p.(Thr215Ala)	NC_000006.11:g.30608371A>G	(Likely) benign	1 lab	4c47b059da
9:35740615 GBA2 G>A	9	35740615	35740615	G	A	GBA2	c.1037C>T	NM_020944.2	NP_065995.1:p.(Thr346Met)	NC_000009.11:g.35740615G>A	VUS	1 lab	4c4b037597
17:7385778 SLC35G6 T>G	17	7385778	7385778	T	G	SLC35G6	c.475T>G	NM_001102614.1	NP_001096084.1:p.(Trp159Gly)	NC_000017.10:g.7385778T>G	VUS	1 lab	4c4b0952f9
18:44057151 LOXHD1 C>T	18	44057151	44057151	C	T	LOXHD1	c.3340G>A	NM_001145472.2	NP_001138944.1:p.(Gly1114Arg)	NC_000018.9:g.44057151C>T	(Likely) benign	1 lab	4c4c13b496
8:17823611 PCM1 G>A	8	17823611	17823611	G	A	PCM1	c.2959G>A	NM_006197.3	NP_006188.3:p.(Val987Met)	NC_000008.10:g.17823611G>A	VUS	1 lab	4c4d731bfa
22:46932591 CELSR1 C>A	22	46932591	46932591	C	A	CELSR1	c.477G>T	NM_014246.1	NP_055061.1:p.(Pro159=)	NC_000022.10:g.46932591C>A	(Likely) benign	1 lab	4c515c6844
X:23411108 PTCHD1 C>T	X	23411108	23411108	C	T	PTCHD1	c.1473C>T	NM_173495.2	NP_775766.2:p.(Tyr491=)	NC_000023.10:g.23411108C>T	(Likely) benign	1 lab	4c54449e74
X:39931878 BCOR G>A	X	39931878	39931878	G	A	BCOR	c.2721C>T	NM_001123385.1	NP_001116857.1:p.(Ser907=)	NC_000023.10:g.39931878G>A	(Likely) benign	1 lab	4c54524d42
16:2115526 TSC2 GCCCGCTCCCTCTC>G	16	2115526	2115542	GCCCGCTCCCTCTC	G	TSC2	c.1610_1622del	NM_000548.5	NP_000539.2:p.(Arg537HisfsTer20)	NC_000016.9:g.2115530_2115542del	(Likely) pathogenic	1 lab	4c55476097
4:56835303 CEP135 A>T	4	56835303	56835303	A	T	CEP135	c.1110+9A>T	NM_025009.4	NP_079285.2:p.?	NC_000004.11:g.56835303A>T	(Likely) benign	1 lab	4c5828f513
Y:9306184 TSPY1 C>T	Y	9306184	9306184	C	T	TSPY1	c.739C>T	NM_001197242.2	NP_001184171.1:p.(Arg247Cys)	NC_000024.9:g.9306184C>T	VUS	1 lab	4c58b39564
X:41078390 USP9X A>G	X	41078390	41078390	A	G	USP9X	c.6471A>G	NM_001039591.3	NP_001034680.2:p.(Leu2157=)	NC_000023.10:g.41078390A>G	(Likely) benign	1 lab	4c59a1da96
3:12546691 TSEN2 A>G	3	12546691	12546691	A	G	TSEN2	c.870A>G	NM_025265.3	NP_079541.1:p.(Pro290=)	NC_000003.11:g.12546691A>G	(Likely) benign	1 lab	4c5e3af10c
21:46876713 COL18A1 G>C	21	46876713	46876713	G	C	COL18A1	c.1269G>C	NM_130444.3	NP_569711.2:p.(Leu423=)	NC_000021.8:g.46876713G>C	(Likely) benign	1 lab	4c5e8a6183
1:109492957 CLCC1 C>T	1	109492957	109492957	C	T	CLCC1	c.103G>A	NM_001048210.2	NP_001041675.1:p.(Ala35Thr)	NC_000001.10:g.109492957C>T	VUS	1 lab	4c6010b637
10:17083061 CUBN G>A	10	17083061	17083061	G	A	CUBN	c.3988C>T	NM_001081.3	NP_001072.2:p.(His1330Tyr)	NC_000010.10:g.17083061G>A	(Likely) benign	1 lab	4c6016482e
11:128851750 ARHGAP32 T>C	11	128851750	128851750	T	C	ARHGAP32	c.1566A>G	NM_001142685.1	NP_001136157.1:p.(Ala522=)	NC_000011.9:g.128851750T>C	(Likely) benign	1 lab	4c60bf76a7
3:75786506 ZNF717 T>C	3	75786506	75786506	T	C	ZNF717	c.2268A>G	NM_001128223.3	NP_001121695.1:p.(Lys756=)	NC_000003.11:g.75786506T>C	(Likely) benign	1 lab	4c61de39bf
3:189706688 P3H2 C>T	3	189706688	189706688	C	T	P3H2	c.955+8G>A	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189706688C>T	(Likely) benign	1 lab	4c622e5351
3:48609451 COL7A1 C>T	3	48609451	48609451	C	T	COL7A1	c.7051G>A	NM_000094.4	NP_000085.1:p.(Gly2351Arg)	NC_000003.11:g.48609451C>T	(Likely) pathogenic	1 lab	ef77a21c4f
10:48390370 RBP3 G>T	10	48390370	48390370	G	T	RBP3	c.508C>A	NM_002900.2	NP_002891.1:p.(Arg170=)	NC_000010.10:g.48390370G>T	(Likely) benign	1 lab	4c64aa3a7e
11:70332507 SHANK2 GTTC>G	11	70332507	70332515	GTTC	G	SHANK2	c.3888_3890del	NM_012309.5	NP_036441.2:p.(Lys1296del)	NC_000011.9:g.70332513_70332515del	VUS	1 lab	ef7c7e2c9e
14:105417093 AHNAK2 A>C	14	105417093	105417093	A	C	AHNAK2	c.4695T>G	NM_138420.3	NP_612429.2:p.(Pro1565=)	NC_000014.8:g.105417093A>C	(Likely) benign	1 lab	4c6704490e
1:1149474 TNFRSF4 G>A	1	1149474	1149474	G	A	TNFRSF4	c.34C>T	NM_003327.4	NP_003318.1:p.(Pro12Ser)	NC_000001.10:g.1149474G>A	(Likely) benign	1 lab	4c670cc3be
17:7217690 GPS2 T>A	17	7217690	7217690	T	A	GPS2	c.237A>T	NM_004489.5	NP_004480.1:p.(Leu79=)	NC_000017.10:g.7217690T>A	(Likely) benign	1 lab	4c68290dae
1:202742293 KDM5B G>A	1	202742293	202742293	G	A	KDM5B	c.529C>T	NM_001314042.1	NP_001300971.1:p.(Arg177Ter)	NC_000001.10:g.202742293G>A	(Likely) pathogenic	1 lab	4c68bf5ba9
19:11687073 ACP5 G>A	19	11687073	11687073	G	A	ACP5	c.720C>T	NM_001111035.2	NP_001104505.1:p.(His240=)	NC_000019.9:g.11687073G>A	(Likely) benign	1 lab	4c68ec8564
2:111399363 BUB1 G>A	2	111399363	111399363	G	A	BUB1	c.2481C>T	NM_004336.4	NP_004327.1:p.(Asn827=)	NC_000002.11:g.111399363G>A	(Likely) benign	1 lab	4c6a0fe0ea
1:33480127 AK2 T>C	1	33480127	33480127	T	C	AK2	c.350A>G	NM_001319139.1	NP_001306068.1:p.(Asp117Gly)	NC_000001.10:g.33480127T>C	VUS	1 lab	4c6b740df9
17:41223028 BRCA1 C>T	17	41223028	41223028	C	T	BRCA1	c.4903G>A	NM_007294.3	NP_009225.1:p.(Glu1635Lys)	NC_000017.10:g.41223028C>T	(Likely) benign	1 lab	4c6be94cfa
4:139964450 NOCT G>A	4	139964450	139964450	G	A	NOCT	c.413G>A	NM_012118.4	NP_036250.2:p.(Ser138Asn)	NC_000004.11:g.139964450G>A	(Likely) benign	1 lab	4c6c6cca40
9:94808306 SPTLC1 C>T	9	94808306	94808306	C	T	SPTLC1	c.1111G>A	NM_001281303.1	NP_001268232.1:p.(Gly371Arg)	NC_000009.11:g.94808306C>T	(Likely) benign	1 lab	4c6cec83bb
17:4925995 KIF1C C>T	17	4925995	4925995	C	T	KIF1C	c.2619C>T	NM_006612.5	NP_006603.2:p.(Pro873=)	NC_000017.10:g.4925995C>T	(Likely) benign	1 lab	4c6e50aca3
7:107533710 DLD C>G	7	107533710	107533710	C	G	DLD	c.105C>G	NM_000108.4	NP_000099.2:p.(Tyr35Ter)	NC_000007.13:g.107533710C>G	VUS	1 lab	4c6ed7038a
13:113741710 MCF2L G>A	13	113741710	113741710	G	A	MCF2L	c.2529G>A	NM_001320815.1	NP_001307744.1:p.(Arg843=)	NC_000013.10:g.113741710G>A	(Likely) benign	1 lab	4c6ee01730
6:111498660 SLC16A10 T>C	6	111498660	111498660	T	C	SLC16A10	c.734T>C	NM_018593.5	NP_061063.2:p.(Phe245Ser)	NC_000006.11:g.111498660T>C	VUS	1 lab	4c6feecfe6
16:29998997 TAOK2 G>A	16	29998997	29998997	G	A	TAOK2	c.3404G>A	NM_016151.4	NP_057235.2:p.(Arg1135His)	NC_000016.9:g.29998997G>A	(Likely) benign	1 lab	4c717fb459
X:49127283 PPP1R3F C>T	X	49127283	49127283	C	T	PPP1R3F	c.951C>T	NM_033215.4	NP_149992.3:p.(Pro317=)	NC_000023.10:g.49127283C>T	(Likely) benign	1 lab	4c71f50a7c
X:79960294 BRWD3 T>C	X	79960294	79960294	T	C	BRWD3	c.2604A>G	NM_153252.4	NP_694984.4:p.(Leu868=)	NC_000023.10:g.79960294T>C	(Likely) benign	1 lab	4c75be3b7a
1:6511901 ESPN G>A	1	6511901	6511901	G	A	ESPN	c.2070G>A	NM_031475.3	NP_113663.2:p.(Ser690=)	NC_000001.10:g.6511901G>A	(Likely) benign	1 lab	4c76167864
11:72408440 ARAP1 A>G	11	72408440	72408440	A	G	ARAP1	c.2881T>C	NM_001040118.2	NP_001035207.1:p.(Ser961Pro)	NC_000011.9:g.72408440A>G	VUS	1 lab	4c7af1d5b3
15:65917793 SLC24A1 G>A	15	65917793	65917793	G	A	SLC24A1	c.1375G>A	NM_004727.2	NP_004718.1:p.(Val459Ile)	NC_000015.9:g.65917793G>A	VUS	1 lab	4c7b7ec078
19:54631689 PRPF31 G>A	19	54631689	54631689	G	A	PRPF31	c.1083G>A	NM_015629.3	NP_056444.3:p.(Lys361=)	NC_000019.9:g.54631689G>A	(Likely) benign	1 lab	4c7b86d98e
X:131219687 FRMD7 G>C	X	131219687	131219687	G	C	FRMD7	c.567C>G	NM_194277.2	NP_919253.1:p.(Ile189Met)	NC_000023.10:g.131219687G>C	VUS	1 lab	4c7c00ecf3
3:37067314 MLH1 C>T	3	37067314	37067314	C	T	MLH1	c.1225C>T	NM_000249.3	NP_000240.1:p.(Gln409Ter)	NC_000003.11:g.37067314C>T	(Likely) pathogenic	1 lab	4c7d2a8d9b
11:40136285 LRRC4C C>A	11	40136285	40136285	C	A	LRRC4C	c.1558G>T	NM_001258419.2	NP_001245348.1:p.(Asp520Tyr)	NC_000011.9:g.40136285C>A	VUS	1 lab	4c7e1fcc42
12:122248595 SETD1B G>A	12	122248595	122248595	G	A	SETD1B	c.1744G>A	NM_001353345.1	NP_001340274.1:p.(Glu582Lys)	NC_000012.11:g.122248595G>A	VUS	1 lab	4c7e9fc6b5
17:29550588 NF1 A>C	17	29550588	29550588	A	C	NF1	c.1845+3A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550588A>C	VUS	1 lab	4c811fb754
19:50412307 NUP62 G>A	19	50412307	50412307	G	A	NUP62	c.758C>T	NM_016553.5	NP_057637.2:p.(Thr253Ile)	NC_000019.9:g.50412307G>A	(Likely) benign	1 lab	ef7eed569a
22:32239141 DEPDC5 C>T	22	32239141	32239141	C	T	DEPDC5	c.2576C>T	NM_001242896.2	NP_001229825.1:p.(Thr859Met)	NC_000022.10:g.32239141C>T	VUS	1 lab	4c8346c41a
11:5688929 TRIM5 C>T	11	5688929	5688929	C	T	TRIM5	c.757G>A	NM_033092.2	NP_149083.2:p.(Val253Ile)	NC_000011.9:g.5688929C>T	(Likely) benign	1 lab	4c8416272d
14:95574000 DICER1 CT>C	14	95574000	95574004	CT	C	DICER1	c.2748del	NM_177438.3	NP_803187.1:p.(Glu917LysfsTer8)	NC_000014.8:g.95574004del	(Likely) pathogenic	1 lab	4c843dfefb
18:6985267 LAMA1 C>T	18	6985267	6985267	C	T	LAMA1	c.5629G>A	NM_005559.3	NP_005550.2:p.(Glu1877Lys)	NC_000018.9:g.6985267C>T	(Likely) benign	1 lab	4c84d8ab40
4:128842756 MFSD8 G>C	4	128842756	128842756	G	C	MFSD8	c.1273C>G	NM_152778.2	NP_689991.1:p.(Leu425Val)	NC_000004.11:g.128842756G>C	VUS	1 lab	4c86a086e4
17:40717819 COASY G>A	17	40717819	40717819	G	A	COASY	c.1628G>A	NM_025233.6	NP_079509.5:p.(Arg543His)	NC_000017.10:g.40717819G>A	(Likely) benign	1 lab	4c86c6c486
17:29663832 NF1 C>CT	17	29663832	29663834	C	CT	NF1	c.6266dup	NM_000267.3	NP_000258.1:p.(Leu2089PhefsTer10)	NC_000017.10:g.29663834dup	(Likely) pathogenic	1 lab	4c87d525f2
11:47372137 MYBPC3 G>A	11	47372137	47372137	G	A	MYBPC3	c.322C>T	NM_000256.3	NP_000247.2:p.(Pro108Ser)	NC_000011.9:g.47372137G>A	VUS	1 lab	ef7fbf8285
10:55582934 PCDH15 C>T	10	55582934	55582934	C	T	PCDH15	c.4573G>A	NM_001142763.1	NP_001136235.1:p.(Asp1525Asn)	NC_000010.10:g.55582934C>T	(Likely) benign	1 lab	4c8a692f3a
19:3907799 ATCAY G>A	19	3907799	3907799	G	A	ATCAY	c.426G>A	NM_033064.4	NP_149053.1:p.(Thr142=)	NC_000019.9:g.3907799G>A	(Likely) benign	1 lab	4c8a998a31
14:100361091 EML1 T>C	14	100361091	100361091	T	C	EML1	c.730T>C	NM_001008707.1	NP_001008707.1:p.(Trp244Arg)	NC_000014.8:g.100361091T>C	VUS	1 lab	4c8fd936f6
6:42141475 GUCA1A T>A	6	42141475	42141475	T	A	GUCA1A	c.124T>A	NM_001319061.1	NP_001305990.1:p.(Phe42Ile)	NC_000006.11:g.42141475T>A	VUS	1 lab	4c90267080
3:43121638 POMGNT2 C>T	3	43121638	43121638	C	T	POMGNT2	c.1286G>A	NM_032806.5	NP_116195.2:p.(Arg429His)	NC_000003.11:g.43121638C>T	VUS	1 lab	4c919ea753
X:14937843 MOSPD2 G>A	X	14937843	14937843	G	A	MOSPD2	c.1469G>A	NM_152581.3	NP_689794.1:p.(Arg490His)	NC_000023.10:g.14937843G>A	(Likely) benign	1 lab	4c92291758
2:202496888 TMEM237 C>T	2	202496888	202496888	C	T	TMEM237	c.415G>A	NM_152388.3	NP_689601.2:p.(Val139Ile)	NC_000002.11:g.202496888C>T	(Likely) benign	1 lab	4c938ed981
21:45945543 TSPEAR G>T	21	45945543	45945543	G	T	TSPEAR	c.1125C>A	NM_001272037.1	NP_001258966.1:p.(His375Gln)	NC_000021.8:g.45945543G>T	VUS	1 lab	4c93ed6be8
X:101970852 GPRASP2 A>G	X	101970852	101970852	A	G	GPRASP2	c.1055A>G	NM_001184874.2	NP_001171803.1:p.(His352Arg)	NC_000023.10:g.101970852A>G	(Likely) benign	1 lab	4c94978839
2:1497610 TPO G>A	2	1497610	1497610	G	A	TPO	c.1805G>A	NM_000547.5	NP_000538.3:p.(Arg602His)	NC_000002.11:g.1497610G>A	(Likely) benign	1 lab	4c94bfd06d
6:109796621 ZBTB24 T>C	6	109796621	109796621	T	C	ZBTB24	c.1269A>G	NM_014797.2	NP_055612.2:p.(Lys423=)	NC_000006.11:g.109796621T>C	(Likely) benign	1 lab	4c96091a94
1:42922928 PPCS G>A	1	42922928	42922928	G	A	PPCS	c.519G>A	NM_024664.4	NP_078940.2:p.(Ala173=)	NC_000001.10:g.42922928G>A	(Likely) benign	1 lab	4c9777c674
4:3240187 HTT T>C	4	3240187	3240187	T	C	HTT	c.8911T>C	NM_002111.8	NP_002102.4:p.(Phe2971Leu)	NC_000004.11:g.3240187T>C	VUS	1 lab	4c99de3d13
17:78092449 GAA CAGA>C	17	78092449	78092453	CAGA	C	GAA	c.2647-1_2648del	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78092451_78092453del	(Likely) pathogenic	1 lab	4c9ab0bdc7
2:170097655 LRP2 G>A	2	170097655	170097655	G	A	LRP2	c.3888C>T	NM_004525.3	NP_004516.2:p.(Cys1296=)	NC_000002.11:g.170097655G>A	(Likely) benign	1 lab	4c9adbe619
16:2150389 PKD1 G>A	16	2150389	2150389	G	A	PKD1	c.9568+8C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2150389G>A	(Likely) benign	1 lab	4c9b29c979
1:183094675 LAMC1 G>C	1	183094675	183094675	G	C	LAMC1	c.2791G>C	NM_002293.3	NP_002284.3:p.(Gly931Arg)	NC_000001.10:g.183094675G>C	VUS	1 lab	4c9c3aaff7
2:135630204 ACMSD T>C	2	135630204	135630204	T	C	ACMSD	c.668T>C	NM_001307983.1	NP_001294912.1:p.(Ile223Thr)	NC_000002.11:g.135630204T>C	VUS	1 lab	4c9ca78d0a
1:183079691 LAMC1 A>G	1	183079691	183079691	A	G	LAMC1	c.923A>G	NM_002293.3	NP_002284.3:p.(Lys308Arg)	NC_000001.10:g.183079691A>G	VUS	1 lab	4c9d0e92d1
15:41337180 INO80 G>A	15	41337180	41337180	G	A	INO80	c.2829C>T	NM_017553.3	NP_060023.1:p.(Tyr943=)	NC_000015.9:g.41337180G>A	(Likely) benign	1 lab	4c9eaddcb4
7:96650387 DLX5 G>A	7	96650387	96650387	G	A	DLX5	c.541-10C>T	NM_005221.6	NP_005212.1:p.?	NC_000007.13:g.96650387G>A	(Likely) benign	1 lab	4c9eaf87ce
9:135801100 TSC1 A>C	9	135801100	135801100	A	C	TSC1	c.237T>G	NM_000368.4	NP_000359.1:p.(Tyr79Ter)	NC_000009.11:g.135801100A>C	(Likely) pathogenic	1 lab	4c9ffd57c5
17:26726686 MISSING G>A	17	26726686	26726686	G	A	MISSING				NC_000017.10:g.26726686G>A	(Likely) benign	1 lab	4ca1246e4d
12:21721886 GYS2 G>A	12	21721886	21721886	G	A	GYS2	c.736C>T	NM_021957.4	NP_068776.2:p.(Arg246Ter)	NC_000012.11:g.21721886G>A	(Likely) pathogenic	1 lab	4ca1efc9e0
2:163130397 IFIH1 C>T	2	163130397	163130397	C	T	IFIH1	c.2362G>A	NM_022168.4	NP_071451.2:p.(Ala788Thr)	NC_000002.11:g.163130397C>T	(Likely) benign	1 lab	4ca2945ce0
10:101689736 DNMBP T>A	10	101689736	101689736	T	A	DNMBP	c.785A>T	NM_001318326.1	NP_001305255.1:p.(Asp262Val)	NC_000010.10:g.101689736T>A	VUS	1 lab	4ca307f351
6:33281515 TAPBP G>T	6	33281515	33281515	G	T	TAPBP	c.164C>A	NM_003190.4	NP_003181.3:p.(Pro55Gln)	NC_000006.11:g.33281515G>T	VUS	1 lab	4ca59a8e20
22:21349796 LZTR1 C>G	22	21349796	21349796	C	G	LZTR1	c.1943-239C>G	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21349796C>G	VUS	1 lab	ef801d8304
16:28845892 ATXN2L G>A	16	28845892	28845892	G	A	ATXN2L	c.2311G>A	NM_148416.3	NP_680782.1:p.(Ala771Thr)	NC_000016.9:g.28845892G>A	(Likely) benign	1 lab	ef816df061
4:2826434 SH3BP2 G>T	4	2826434	2826434	G	T	SH3BP2	c.418G>T	NM_001145855.2	NP_001139327.1:p.(Ala140Ser)	NC_000004.11:g.2826434G>T	(Likely) benign	1 lab	4ca70780fc
2:233410294 CHRNG C>T	2	233410294	233410294	C	T	CHRNG	c.1422C>T	NM_005199.5	NP_005190.4:p.(Arg474=)	NC_000002.11:g.233410294C>T	(Likely) benign	1 lab	ef8250ff4f
X:134994557 SAGE1 A>G	X	134994557	134994557	A	G	SAGE1	c.2599A>G	NM_018666.2	NP_061136.2:p.(Ile867Val)	NC_000023.10:g.134994557A>G	(Likely) benign	1 lab	4cad709456
22:32482251 SLC5A1 G>A	22	32482251	32482251	G	A	SLC5A1	c.1066G>A	NM_000343.3	NP_000334.1:p.(Gly356Ser)	NC_000022.10:g.32482251G>A	VUS	1 lab	4caef6454d
11:6532559 DNHD1 A>G	11	6532559	6532559	A	G	DNHD1	c.1292A>G	NM_144666.2	NP_653267.2:p.(Tyr431Cys)	NC_000011.9:g.6532559A>G	VUS	1 lab	4cb05a4896
9:101980597 ALG2 C>G	9	101980597	101980597	C	G	ALG2	c.870G>C	NM_033087.3	NP_149078.1:p.(Gln290His)	NC_000009.11:g.101980597C>G	(Likely) benign	1 lab	4cb1e138d1
4:187541630 FAT1 G>A	4	187541630	187541630	G	A	FAT1	c.6110C>T	NM_005245.3	NP_005236.2:p.(Thr2037Met)	NC_000004.11:g.187541630G>A	VUS	1 lab	4cb2d58427
22:24483514 CABIN1 G>A	22	24483514	24483514	G	A	CABIN1	c.3373G>A	NM_001199281.1	NP_001186210.1:p.(Val1125Ile)	NC_000022.10:g.24483514G>A	VUS	1 lab	4cb3839281
16:90097861 DRC4 G>A	16	90097861	90097861	G	A	DRC4	c.170G>A	NM_001286209.1	NP_001273138.1:p.(Arg57Gln)	NC_000016.9:g.90097861G>A	(Likely) benign	1 lab	4cb45c36d5
12:88478465 CEP290 T>G	12	88478465	88478465	T	G	CEP290	c.4602A>C	NM_025114.3	NP_079390.3:p.(Thr1534=)	NC_000012.11:g.88478465T>G	(Likely) benign	1 lab	4cb4b633da
8:99140591 POP1 A>G	8	99140591	99140591	A	G	POP1	c.311-2A>G	NM_001145860.1	NP_001139332.1:p.?	NC_000008.10:g.99140591A>G	(Likely) pathogenic	1 lab	4cb75317c4
8:100831040 VPS13B A>T	8	100831040	100831040	A	T	VPS13B	c.8620A>T	NM_017890.4	NP_060360.3:p.(Ile2874Phe)	NC_000008.10:g.100831040A>T	VUS	1 lab	4cb7e4dcb7
X:96354776 DIAPH2 T>C	X	96354776	96354776	T	C	DIAPH2	c.2331T>C	NM_006729.4	NP_006720.1:p.(Pro777=)	NC_000023.10:g.96354776T>C	(Likely) benign	1 lab	4cb8a209a4
3:195599251 TNK2 C>G	3	195599251	195599251	C	G	TNK2	c.1347G>C	NM_005781.4	NP_005772.3:p.(Leu449=)	NC_000003.11:g.195599251C>G	(Likely) benign	1 lab	4cb8d52ee2
5:138221990 CTNNA1 G>A	5	138221990	138221990	G	A	CTNNA1	c.1143+9G>A	NM_001323982.1	NP_001310911.1:p.?	NC_000005.9:g.138221990G>A	(Likely) benign	1 lab	4cb978b4cf
12:111926314 ATXN2 T>C	12	111926314	111926314	T	C	ATXN2	c.2686A>G	NM_002973.3	NP_002964.3:p.(Lys896Glu)	NC_000012.11:g.111926314T>C	VUS	1 lab	4cb9b71411
5:115823846 SEMA6A G>A	5	115823846	115823846	G	A	SEMA6A	c.702C>T	NM_020796.4	NP_065847.1:p.(Phe234=)	NC_000005.9:g.115823846G>A	(Likely) benign	1 lab	4cb9cc0141
11:64502633 RASGRP2 G>A	11	64502633	64502633	G	A	RASGRP2	c.1363C>T	NM_153819.1	NP_722541.1:p.(Arg455Cys)	NC_000011.9:g.64502633G>A	VUS	1 lab	4cbabfde6a
21:46930146 COL18A1 C>T	21	46930146	46930146	C	T	COL18A1	c.4195C>T	NM_030582.4	NP_085059.2:p.(Arg1399Cys)	NC_000021.8:g.46930146C>T	(Likely) benign	1 lab	4cbc533472
9:139413123 NOTCH1 GCA>G	9	139413123	139413127	GCA	G	NOTCH1	c.1017_1018del	NM_017617.5	NP_060087.3:p.(Ala340GlnfsTer12)	NC_000009.11:g.139413126_139413127del	(Likely) pathogenic	1 lab	4cbe3544cf
19:48640259 LIG1 G>A	19	48640259	48640259	G	A	LIG1	c.1328+6C>T	NM_001320970.1	NP_001307899.1:p.?	NC_000019.9:g.48640259G>A	(Likely) benign	1 lab	4cbf1eb905
19:2110201 AP3D1 A>G	19	2110201	2110201	A	G	AP3D1	c.3198T>C	NM_001261826.3	NP_001248755.1:p.(Tyr1066=)	NC_000019.9:g.2110201A>G	(Likely) benign	1 lab	4cbffbb4a3
X:119680435 CUL4B A>G	X	119680435	119680435	A	G	CUL4B	c.867T>C	NM_003588.3	NP_003579.3:p.(Ile289=)	NC_000023.10:g.119680435A>G	(Likely) benign	1 lab	4cc2c9f676
6:43488998 POLR1C G>A	6	43488998	43488998	G	A	POLR1C	c.1001G>A	NM_203290.3	NP_976035.1:p.(Arg334Gln)	NC_000006.11:g.43488998G>A	(Likely) benign	1 lab	4cc4f43e40
1:160769595 LY9 AG>A	1	160769595	160769600	AG	A	LY9	c.182del	NM_002348.4	NP_002339.2:p.(Gly61ValfsTer3)	NC_000001.10:g.160769600del	VUS	1 lab	4cc564893c
16:2135234 TSC2 C>T	16	2135234	2135234	C	T	TSC2	c.4573C>T	NM_000548.3	NP_000539.2:p.(Gln1525Ter)	NC_000016.9:g.2135234C>T	(Likely) pathogenic	1 lab	4cc652209e
16:2125844 TSC2 C>T	16	2125844	2125844	C	T	TSC2	c.2590C>T	NM_000548.3	NP_000539.2:p.(Gln864Ter)	NC_000016.9:g.2125844C>T	(Likely) pathogenic	1 lab	4cc679d8e1
17:39768881 KRT16 G>A	17	39768881	39768881	G	A	KRT16	c.60C>T	NM_005557.4	NP_005548.2:p.(Ile20=)	NC_000017.10:g.39768881G>A	(Likely) benign	1 lab	ef8418d56f
22:24755850 SPECC1L A>G	22	24755850	24755850	A	G	SPECC1L	c.2744-3379A>G	NM_015330.4	NP_056145.4:p.?	NC_000022.10:g.24755850A>G	(Likely) benign	1 lab	4cc9d907bc
17:78086719 GAA G>T	17	78086719	78086719	G	T	GAA	c.1933G>T	NM_000152.3	NP_000143.2:p.(Asp645Tyr)	NC_000017.10:g.78086719G>T	(Likely) pathogenic	1 lab	4ccc2f8027
X:53222195 KDM5C C>T	X	53222195	53222195	C	T	KDM5C	c.4637G>A	NM_004187.3	NP_004178.2:p.(Arg1546Gln)	NC_000023.10:g.53222195C>T	(Likely) benign	1 lab	4cccdda858
5:180275943 ZFP62 A>G	5	180275943	180275943	A	G	ZFP62	c.2453T>C	NM_152283.4	NP_689496.4:p.(Ile818Thr)	NC_000005.9:g.180275943A>G	(Likely) benign	1 lab	4cccefd5e0
17:29541608 NF1 G>C	17	29541608	29541608	G	C	NF1	c.1527+5G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29541608G>C	(Likely) pathogenic	1 lab	4ccd404ca3
2:55910909 PNPT1 G>GCT	2	55910909	55910911	G	GCT	PNPT1	c.453+10_453+11insAG	NM_033109.4	NP_149100.2:p.?	NC_000002.11:g.55910910_55910911insTC	(Likely) benign	1 lab	4cce8a2a78
17:29676182 NF1 A>G	17	29676182	29676182	A	G	NF1	c.7171A>G	NM_000267.3	NP_000258.1:p.(Ile2391Val)	NC_000017.10:g.29676182A>G	(Likely) benign	1 lab	4ccea591fc
19:42875578 MEGF8 A>T	19	42875578	42875578	A	T	MEGF8	c.7213A>T	NM_001271938.2	NP_001258867.1:p.(Thr2405Ser)	NC_000019.9:g.42875578A>T	VUS	1 lab	4cceba27e6
2:25059790 ADCY3 G>A	2	25059790	25059790	G	A	ADCY3	c.1658C>T	NM_004036.5	NP_004027.2:p.(Ala553Val)	NC_000002.11:g.25059790G>A	(Likely) benign	1 lab	ef84730b9c
15:23892343 MAGEL2 G>A	15	23892343	23892343	G	A	MAGEL2	c.547C>T	NM_019066.4	NP_061939.3:p.(Pro183Ser)	NC_000015.9:g.23892343G>A	VUS	1 lab	4cd17650fb
19:624714 POLRMT C>T	19	624714	624714	C	T	POLRMT	c.1140+5G>A	NM_005035.4	NP_005026.3:p.?	NC_000019.9:g.624714C>T	(Likely) benign	1 lab	ef848ef6ff
10:112581611 RBM20 AG>A	10	112581611	112581613	AG	A	RBM20	c.3236del	NM_001134363.3	NP_001127835.2:p.(Gly1079AlafsTer25)	NC_000010.10:g.112581613del	(Likely) pathogenic	1 lab	ef8694228c
17:29585506 NF1 A>C	17	29585506	29585506	A	C	NF1	c.4255A>C	NM_000267.3	NP_000258.1:p.(Lys1419Gln)	NC_000017.10:g.29585506A>C	VUS	1 lab	4cd6eb2608
19:12772066 MAN2B1 G>A	19	12772066	12772066	G	A	MAN2B1	c.1026+8C>T	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12772066G>A	(Likely) benign	1 lab	4cd778fe27
2:136567157 LCT G>A	2	136567157	136567157	G	A	LCT	c.2760C>T	NM_002299.2	NP_002290.2:p.(Gly920=)	NC_000002.11:g.136567157G>A	VUS	1 lab	4cdced010c
21:46687595 POFUT2 A>G	21	46687595	46687595	A	G	POFUT2	c.1046T>C	NM_015227.5	NP_056042.1:p.(Met349Thr)	NC_000021.8:g.46687595A>G	VUS	1 lab	4cdd11c1bd
5:1414873 SLC6A3 G>A	5	1414873	1414873	G	A	SLC6A3	c.1089C>T	NM_001044.4	NP_001035.1:p.(Val363=)	NC_000005.9:g.1414873G>A	(Likely) benign	1 lab	4cdda49ec4
1:228495112 OBSCN G>A	1	228495112	228495112	G	A	OBSCN	c.15217G>A	NM_001271223.2	NP_001258152.2:p.(Glu5073Lys)	NC_000001.10:g.228495112G>A	VUS	1 lab	4cdf72ca6d
1:236891015 ACTN2 C>T	1	236891015	236891015	C	T	ACTN2	c.574C>T	NM_001103.3	NP_001094.1:p.(Arg192Ter)	NC_000001.10:g.236891015C>T	(Likely) pathogenic	1 lab	4cdfa3e3b4
6:70980049 COL9A1 G>A	6	70980049	70980049	G	A	COL9A1	c.1165C>T	NM_001851.4	NP_001842.3:p.(Pro389Ser)	NC_000006.11:g.70980049G>A	VUS	1 lab	4cdfccbf0b
X:32328352 DMD G>A	X	32328352	32328352	G	A	DMD	c.5595C>T	NM_004010.3	NP_004001.1:p.(Asp1865=)	NC_000023.10:g.32328352G>A	(Likely) benign	1 lab	4ce1d1bbc5
X:96603238 DIAPH2 G>A	X	96603238	96603238	G	A	DIAPH2	c.2968G>A	NM_006729.4	NP_006720.1:p.(Glu990Lys)	NC_000023.10:g.96603238G>A	VUS	1 lab	4ce29a345c
8:10464602 RP1L1 C>T	8	10464602	10464602	C	T	RP1L1	c.7006G>A	NM_178857.5	NP_849188.4:p.(Ala2336Thr)	NC_000008.10:g.10464602C>T	(Likely) benign	1 lab	4ce525186a
22:32894389 FBXO7 C>T	22	32894389	32894389	C	T	FBXO7	c.1441C>T	NM_012179.3	NP_036311.3:p.(Arg481Cys)	NC_000022.10:g.32894389C>T	VUS	1 lab	4ce55b38eb
14:74969607 LTBP2 C>T	14	74969607	74969607	C	T	LTBP2	c.4919G>A	NM_000428.2	NP_000419.1:p.(Arg1640His)	NC_000014.8:g.74969607C>T	VUS	1 lab	4ce8e8c7cc
5:150947220 FAT2 C>T	5	150947220	150947220	C	T	FAT2	c.1273G>A	NM_001447.2	NP_001438.1:p.(Asp425Asn)	NC_000005.9:g.150947220C>T	(Likely) benign	1 lab	4ce909709f
8:33367302 TTI2 G>A	8	33367302	33367302	G	A	TTI2	c.796C>T	NM_025115.3	NP_079391.2:p.(Leu266=)	NC_000008.10:g.33367302G>A	(Likely) benign	1 lab	4ceda71853
5:70782319 BDP1 C>T	5	70782319	70782319	C	T	BDP1	c.1078C>T	NM_018429.2	NP_060899.2:p.(Arg360Cys)	NC_000005.9:g.70782319C>T	VUS	1 lab	4cee1b32e0
6:43638600 RSPH9 T>A	6	43638600	43638600	T	A	RSPH9	c.797T>A	NM_001193341.1	NP_001180270.1:p.(Leu266His)	NC_000006.11:g.43638600T>A	VUS	1 lab	4cf1e99027
X:46360283 ZNF674 G>A	X	46360283	46360283	G	A	ZNF674	c.741C>T	NM_001039891.2	NP_001034980.1:p.(Thr247=)	NC_000023.10:g.46360283G>A	(Likely) benign	1 lab	4cf34490dd
5:13754394 DNAH5 C>T	5	13754394	13754394	C	T	DNAH5	c.10473G>A	NM_001369.2	NP_001360.1:p.(Thr3491=)	NC_000005.9:g.13754394C>T	(Likely) benign	1 lab	4cf61e5fbf
2:88876161 EIF2AK3 C>T	2	88876161	88876161	C	T	EIF2AK3	c.1947G>A	NM_004836.6	NP_004827.4:p.(Pro649=)	NC_000002.11:g.88876161C>T	(Likely) benign	1 lab	4cf92ff3ca
2:25965559 ASXL2 C>A	2	25965559	25965559	C	A	ASXL2	c.3647G>T	NM_018263.5	NP_060733.4:p.(Ser1216Ile)	NC_000002.11:g.25965559C>A	VUS	1 lab	4cf9c3becb
1:160264615 COPA T>A	1	160264615	160264615	T	A	COPA	c.2536A>T	NM_001098398.2	NP_001091868.1:p.(Ile846Phe)	NC_000001.10:g.160264615T>A	(Likely) benign	1 lab	4cfb3f26bf
6:167369640 RNASET2 G>A	6	167369640	167369640	G	A	RNASET2				NC_000006.11:g.167369640G>A	(Likely) benign	1 lab	4cfe92a9d9
17:79496146 FSCN2 G>A	17	79496146	79496146	G	A	FSCN2	c.589G>A	NM_001077182.2	NP_001070650.1:p.(Asp197Asn)	NC_000017.10:g.79496146G>A	VUS	1 lab	4d0145dee9
9:34517354 DNAI1 C>T	9	34517354	34517354	C	T	DNAI1	c.1902C>T	NM_001281428.1	NP_001268357.1:p.(Asn634=)	NC_000009.11:g.34517354C>T	(Likely) benign	1 lab	4d049f066b
10:28872317 WAC A>AT	10	28872317	28872324	A	AT	WAC	c.275-4dup	NM_016628.4	NP_057712.2:p.?	NC_000010.10:g.28872324dup	(Likely) benign	1 lab	4d04ca07e4
14:21544751 ARHGEF40 G>A	14	21544751	21544751	G	A	ARHGEF40	c.1866G>A	NM_018071.4	NP_060541.3:p.(Arg622=)	NC_000014.8:g.21544751G>A	(Likely) benign	1 lab	4d04eb42c4
X:152085710 ZNF185 T>C	X	152085710	152085710	T	C	ZNF185	c.260T>C	NM_001178106.1	NP_001171577.1:p.(Ile87Thr)	NC_000023.10:g.152085710T>C	VUS	1 lab	4d05458360
1:201054162 CACNA1S G>A	1	201054162	201054162	G	A	CACNA1S	c.1151-3C>T	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201054162G>A	(Likely) benign	1 lab	4d06070fb6
19:36212005 KMT2B G>A	19	36212005	36212005	G	A	KMT2B	c.1756G>A	NM_014727.2	NP_055542.1:p.(Ala586Thr)	NC_000019.9:g.36212005G>A	(Likely) benign	1 lab	4d0907f05c
5:149247730 PDE6A A>T	5	149247730	149247730	A	T	PDE6A	c.2136-9T>A	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149247730A>T	(Likely) benign	1 lab	4d0940ff71
8:43051618 HGSNAT T>C	8	43051618	43051618	T	C	HGSNAT	c.1465-473T>C	NM_152419.2	NP_689632.2:p.?	NC_000008.10:g.43051618T>C	(Likely) benign	1 lab	4d0992b36e
14:105239788 AKT1 G>A	14	105239788	105239788	G	A	AKT1	c.828+4C>T	NM_001014432.1	NP_001014432.1:p.?	NC_000014.8:g.105239788G>A	VUS	1 lab	4d0beae31b
1:39776525 MACF1 C>T	1	39776525	39776525	C	T	MACF1	c.3138C>T	NM_012090.5	NP_036222.3:p.(Ala1046=)	NC_000001.10:g.39776525C>T	(Likely) benign	1 lab	4d0c963c75
15:43910210 STRC G>C	15	43910210	43910210	G	C	STRC	c.409C>G	NM_153700.2	NP_714544.1:p.(Leu137Val)	NC_000015.9:g.43910210G>C	(Likely) benign	1 lab	4d0d0e2fff
19:44590009 ZNF284 A>G	19	44590009	44590009	A	G	ZNF284	c.378A>G	NM_001037813.4	NP_001032902.1:p.(Gln126=)	NC_000019.9:g.44590009A>G	(Likely) benign	1 lab	4d0ecae588
9:140093591 TPRN G>A	9	140093591	140093591	G	A	TPRN	c.1573C>T	NM_001128228.3	NP_001121700.2:p.(Arg525Trp)	NC_000009.11:g.140093591G>A	VUS	1 lab	4d0f278048
17:3384954 ASPA T>C	17	3384954	3384954	T	C	ASPA				NC_000017.10:g.3384954T>C	(Likely) benign	1 lab	4d110e0ebb
1:209796407 LAMB3 C>T	1	209796407	209796407	C	T	LAMB3	c.2476G>A	NM_001017402.1	NP_001017402.1:p.(Gly826Ser)	NC_000001.10:g.209796407C>T	(Likely) benign	1 lab	4d1241c8dd
19:6678475 C3 G>A	19	6678475	6678475	G	A	C3	c.4631-9C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6678475G>A	(Likely) benign	1 lab	4d12d3eb91
2:241696837 KIF1A CTCA>C	2	241696837	241696842	CTCA	C	KIF1A	c.2754_2756del	NM_001244008.2	NP_001230937.1:p.(Asp918del)	NC_000002.11:g.241696840_241696842del	VUS	1 lab	4d131a48e6
14:105237073 AKT1 G>A	14	105237073	105237073	G	A	AKT1	c.1363+9C>T	NM_001014432.1	NP_001014432.1:p.?	NC_000014.8:g.105237073G>A	(Likely) benign	1 lab	4d1391982e
8:95390425 RAD54B C>T	8	95390425	95390425	C	T	RAD54B	c.1946G>A	NM_001205263.1	NP_001192192.1:p.(Gly649Glu)	NC_000008.10:g.95390425C>T	(Likely) benign	1 lab	4d14cce554
12:109286790 DAO G>A	12	109286790	109286790	G	A	DAO	c.485G>A	NM_001917.4	NP_001908.3:p.(Arg162Gln)	NC_000012.11:g.109286790G>A	VUS	1 lab	4d159a6131
7:23163401 KLHL7 G>A	7	23163401	23163401	G	A	KLHL7	c.126G>A	NM_001031710.2	NP_001026880.2:p.(Thr42=)	NC_000007.13:g.23163401G>A	(Likely) benign	1 lab	4d16ebefe0
6:111694754 REV3L C>A	6	111694754	111694754	C	A	REV3L	c.4570G>T	NM_001286431.1	NP_001273360.1:p.(Asp1524Tyr)	NC_000006.11:g.111694754C>A	VUS	1 lab	4d1824a84d
4:126239687 FAT4 C>T	4	126239687	126239687	C	T	FAT4	c.2121C>T	NM_001291303.1	NP_001278232.1:p.(Tyr707=)	NC_000004.11:g.126239687C>T	(Likely) benign	1 lab	4d18407094
8:145640474 SLC39A4 G>A	8	145640474	145640474	G	A	SLC39A4	c.613C>T	NM_017767.2	NP_060237.2:p.(Arg205Cys)	NC_000008.10:g.145640474G>A	VUS	1 lab	4d18979fb8
16:3580682 CLUAP1 C>T	16	3580682	3580682	C	T	CLUAP1	c.1036+7C>T	NM_001330454.1	NP_001317383.1:p.?	NC_000016.9:g.3580682C>T	(Likely) benign	1 lab	4d191847d6
3:13672274 FBLN2 G>A	3	13672274	13672274	G	A	FBLN2	c.3044G>A	NM_001165035.1	NP_001158507.1:p.(Arg1015His)	NC_000003.11:g.13672274G>A	VUS	1 lab	4d197c1e1f
1:977330 AGRN T>C	1	977330	977330	T	C	AGRN	c.1178-6T>C	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.977330T>C	(Likely) benign	1 lab	f04ddf16e5
2:179436884 TTN C>T	2	179436884	179436884	C	T	TTN	c.73975G>A	NM_001267550.1	NP_001254479.1:p.(Gly24659Ser)	NC_000002.11:g.179436884C>T	VUS	1 lab	4d1bb5adce
X:153692303 PLXNA3 C>A	X	153692303	153692303	C	A	PLXNA3	c.1557C>A	NM_017514.4	NP_059984.3:p.(Arg519=)	NC_000023.10:g.153692303C>A	VUS	1 lab	4d1bec67a3
8:38275736 FGFR1 GTAT>G	8	38275736	38275744	GTAT	G	FGFR1	c.1430+7_1430+9del	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38275742_38275744del	(Likely) benign	1 lab	4d1d9a0254
14:76964583 ESRRB G>A	14	76964583	76964583	G	A	ESRRB	c.1084G>A	NM_004452.3	NP_004443.3:p.(Ala362Thr)	NC_000014.8:g.76964583G>A	VUS	1 lab	4d1e68f1c2
16:67688117 CARMIL2 A>C	16	67688117	67688117	A	C	CARMIL2	c.3186A>C	NM_001013838.2	NP_001013860.1:p.(Glu1062Asp)	NC_000016.9:g.67688117A>C	VUS	1 lab	4d24040460
9:123922579 CNTRL C>T	9	123922579	123922579	C	T	CNTRL	c.5088C>T	NM_007018.4	NP_008949.4:p.(Thr1696=)	NC_000009.11:g.123922579C>T	(Likely) benign	1 lab	4d24220bd4
11:1270114 MUC5B C>A	11	1270114	1270114	C	A	MUC5B	c.12004C>A	NM_002458.2	NP_002449.2:p.(Pro4002Thr)	NC_000011.9:g.1270114C>A	(Likely) benign	1 lab	4d24e06ddf
18:47365673 MYO5B G>A	18	47365673	47365673	G	A	MYO5B	c.4702-9C>T	NM_001080467.2	NP_001073936.1:p.?	NC_000018.9:g.47365673G>A	(Likely) benign	1 lab	4d2786e146
19:1468974 APC2 C>T	19	1468974	1468974	C	T	APC2	c.5674C>T	NM_005883.2	NP_005874.1:p.(Pro1892Ser)	NC_000019.9:g.1468974C>T	(Likely) benign	1 lab	4d27f1934c
17:42744414 MEIOC C>A	17	42744414	42744414	C	A	MEIOC	c.1135C>A	NM_001145080.3	NP_001138552.2:p.(Gln379Lys)	NC_000017.10:g.42744414C>A	VUS	1 lab	4d2990d0eb
10:95372798 PDE6C G>A	10	95372798	95372798	G	A	PDE6C	c.316G>A	NM_006204.3	NP_006195.3:p.(Gly106Ser)	NC_000010.10:g.95372798G>A	VUS	1 lab	4d2a69bc85
2:213403165 ERBB4 G>T	2	213403165	213403165	G	T	ERBB4	c.82+8C>A	NM_005235.2	NP_005226.1:p.?	NC_000002.11:g.213403165G>T	(Likely) benign	1 lab	4d2c00a532
5:73069762 ARHGEF28 G>A	5	73069762	73069762	G	A	ARHGEF28	c.558G>A	NM_001080479.2	NP_001073948.2:p.(Pro186=)	NC_000005.9:g.73069762G>A	(Likely) benign	1 lab	4d2d7e1f5c
5:180668634 RACK1 G>A	5	180668634	180668634	G	A	RACK1	c.287C>T	NM_006098.4	NP_006089.1:p.(Thr96Ile)	NC_000005.9:g.180668634G>A	VUS	1 lab	4d2e1fa9ce
17:4446383 MYBBP1A C>T	17	4446383	4446383	C	T	MYBBP1A	c.2717G>A	NM_014520.3	NP_055335.2:p.(Arg906Gln)	NC_000017.10:g.4446383C>T	(Likely) benign	1 lab	4d2e5a04ff
16:2131788 TSC2 G>A	16	2131788	2131788	G	A	TSC2	c.3803G>A	NM_000548.3	NP_000539.2:p.(Arg1268His)	NC_000016.9:g.2131788G>A	VUS	1 lab	4d2ed85452
X:142716727 SLITRK4 T>A	X	142716727	142716727	T	A	SLITRK4	c.2198A>T	NM_001184749.3	NP_001171678.1:p.(His733Leu)	NC_000023.10:g.142716727T>A	VUS	1 lab	4d2f41b909
8:104419956 SLC25A32 T>C	8	104419956	104419956	T	C	SLC25A32	c.211A>G	NM_030780.4	NP_110407.2:p.(Thr71Ala)	NC_000008.10:g.104419956T>C	VUS	1 lab	4d30086bb6
12:56625155 SLC39A5 G>C	12	56625155	56625155	G	C	SLC39A5	c.97G>C	NM_173596.2	NP_775867.2:p.(Glu33Gln)	NC_000012.11:g.56625155G>C	VUS	1 lab	4d31189ba5
19:38986945 RYR1 C>T	19	38986945	38986945	C	T	RYR1	c.6639C>T	NM_000540.2	NP_000531.2:p.(Asn2213=)	NC_000019.9:g.38986945C>T	(Likely) benign	1 lab	4d34fdb9ac
5:158750288 IL12B C>T	5	158750288	158750288	C	T	IL12B	c.138G>A	NM_002187.2	NP_002178.2:p.(Val46=)	NC_000005.9:g.158750288C>T	(Likely) benign	1 lab	4d35a5dcf1
14:102494045 DYNC1H1 G>T	14	102494045	102494045	G	T	DYNC1H1	c.9138G>T	NM_001376.4	NP_001367.2:p.(Ser3046=)	NC_000014.8:g.102494045G>T	(Likely) benign	1 lab	4d361d33d1
X:15262714 ASB9 G>A	X	15262714	15262714	G	A	ASB9	c.799C>T	NM_001031739.2	NP_001026909.1:p.(Arg267Trp)	NC_000023.10:g.15262714G>A	VUS	1 lab	4d36719108
18:6958543 LAMA1 C>T	18	6958543	6958543	C	T	LAMA1	c.7897G>A	NM_005559.3	NP_005550.2:p.(Gly2633Arg)	NC_000018.9:g.6958543C>T	(Likely) benign	1 lab	4d36914f3c
2:136562437 LCT C>A	2	136562437	136562437	C	A	LCT	c.4364G>T	NM_002299.2	NP_002290.2:p.(Arg1455Leu)	NC_000002.11:g.136562437C>A	VUS	1 lab	4d36b8e546
17:44087760 MAPT G>T	17	44087760	44087760	G	T	MAPT	c.907G>T	NM_005910.5	NP_005901.2:p.(Gly303Cys)	NC_000017.10:g.44087760G>T	VUS	1 lab	4d389db5e8
X:69722058 DLG3 A>G	X	69722058	69722058	A	G	DLG3	c.2393A>G	NM_021120.3	NP_066943.2:p.(Lys798Arg)	NC_000023.10:g.69722058A>G	VUS	1 lab	4d38f46bb1
13:39271934 FREM2 C>T	13	39271934	39271934	C	T	FREM2	c.5263+10C>T	NM_207361.5	NP_997244.4:p.?	NC_000013.10:g.39271934C>T	(Likely) benign	1 lab	4d39b86974
16:89257756 CDH15 C>T	16	89257756	89257756	C	T	CDH15	c.1251C>T	NM_004933.2	NP_004924.1:p.(Asp417=)	NC_000016.9:g.89257756C>T	(Likely) benign	1 lab	4d3a19d534
X:100881082 ARMCX3 A>G	X	100881082	100881082	A	G	ARMCX3	c.1113A>G	NM_016607.3	NP_057691.1:p.(Glu371=)	NC_000023.10:g.100881082A>G	(Likely) benign	1 lab	4d3bde78da
10:6060053 IL2RA C>T	10	6060053	6060053	C	T	IL2RA	c.757G>A	NM_000417.2	NP_000408.1:p.(Val253Ile)	NC_000010.10:g.6060053C>T	(Likely) benign	1 lab	4d3df98c60
19:13320273 CACNA1A C>T	19	13320273	13320273	C	T	CACNA1A	c.6397G>A	NM_023035.2	NP_075461.2:p.(Val2133Met)	NC_000019.9:g.13320273C>T	(Likely) benign	1 lab	4d3fa26a14
16:3705465 DNASE1 C>G	16	3705465	3705465	C	G	DNASE1	c.91C>G	NM_005223.4	NP_005214.2:p.(Gln31Glu)	NC_000016.9:g.3705465C>G	(Likely) benign	1 lab	ef93d48263
17:11593675 DNAH9 G>C	17	11593675	11593675	G	C	DNAH9	c.4536G>C	NM_001372.3	NP_001363.2:p.(Trp1512Cys)	NC_000017.10:g.11593675G>C	VUS	1 lab	4d42b64a52
13:32921159 BRCA2 T>TTATAAAATA	13	32921159	32921168	T	TTATAAAATA	BRCA2	c.7007+127_7007+135dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32921160_32921168dup	(Likely) benign	1 lab	4d42e21d4b
14:92442496 TRIP11 C>A	14	92442496	92442496	C	A	TRIP11	c.5298G>T	NM_004239.4	NP_004230.2:p.(Lys1766Asn)	NC_000014.8:g.92442496C>A	(Likely) benign	1 lab	4d431705ae
7:100224440 TFR2 G>A	7	100224440	100224440	G	A	TFR2	c.2082C>T	NM_003227.3	NP_003218.2:p.(Ser694=)	NC_000007.13:g.100224440G>A	(Likely) benign	1 lab	4d437eeb04
2:48026736 MSH6 TC>AG	2	48026736	48026737	TC	AG	MSH6	c.1614_1615delinsAG	NM_000179.2	NP_000170.1:p.(Tyr538Ter)	NC_000002.11:g.48026736_48026737delinsAG	(Likely) pathogenic	1 lab	4d44a68126
12:109959094 UBE3B AAG>A	12	109959094	109959100	AAG	A	UBE3B	c.2223_2224del	NM_130466.4	NP_569733.2:p.(Arg741SerfsTer3)	NC_000012.11:g.109959099_109959100del	(Likely) pathogenic	1 lab	4d4517144c
3:15686094 BTD C>T	3	15686094	15686094	C	T	BTD	c.731C>T	NM_000060.4	NP_000051.1:p.(Thr244Ile)	NC_000003.11:g.15686094C>T	VUS	1 lab	4d4580bc6f
2:73677706 ALMS1 G>A	2	73677706	73677706	G	A	ALMS1	c.4055G>A	NM_015120.4	NP_055935.4:p.(Ser1352Asn)	NC_000002.11:g.73677706G>A	(Likely) benign	1 lab	4d47746496
2:44175552 LRPPRC A>G	2	44175552	44175552	A	G	LRPPRC	c.1841T>C	NM_133259.3	NP_573566.2:p.(Met614Thr)	NC_000002.11:g.44175552A>G	VUS	1 lab	4d48483b03
1:183096448 LAMC1 G>A	1	183096448	183096448	G	A	LAMC1	c.3032G>A	NM_002293.3	NP_002284.3:p.(Arg1011His)	NC_000001.10:g.183096448G>A	VUS	1 lab	4d49dc0fcb
13:37427728 SMAD9 T>C	13	37427728	37427728	T	C	SMAD9	c.1088A>G	NM_001127217.2	NP_001120689.1:p.(Asn363Ser)	NC_000013.10:g.37427728T>C	VUS	1 lab	4d4bb157c4
18:72344222 ZNF407 C>G	18	72344222	72344222	C	G	ZNF407	c.1247C>G	NM_017757.2	NP_060227.2:p.(Pro416Arg)	NC_000018.9:g.72344222C>G	VUS	1 lab	4d4d0004ee
11:62677935 CHRM1 C>T	11	62677935	62677935	C	T	CHRM1	c.638G>A	NM_000738.3	NP_000729.2:p.(Arg213Gln)	NC_000011.9:g.62677935C>T	VUS	1 lab	ef9867b7c0
19:9028289 MUC16 T>C	19	9028289	9028289	T	C	MUC16	c.36503A>G	NM_024690.2	NP_078966.2:p.(Asn12168Ser)	NC_000019.9:g.9028289T>C	(Likely) benign	1 lab	4d5068e791
17:36485633 GPR179 G>C	17	36485633	36485633	G	C	GPR179	c.3819C>G	NM_001004334.3	NP_001004334.3:p.(Ala1273=)	NC_000017.10:g.36485633G>C	(Likely) benign	1 lab	4d51317aa5
5:41008864 MROH2B A>G	5	41008864	41008864	A	G	MROH2B	c.3452T>C	NM_173489.5	NP_775760.3:p.(Met1151Thr)	NC_000005.9:g.41008864A>G	(Likely) benign	1 lab	4d517e0205
11:67275148 CDK2AP2 G>C	11	67275148	67275148	G	C	CDK2AP2	c.95C>G	NM_005851.4	NP_005842.1:p.(Ser32Trp)	NC_000011.9:g.67275148G>C	VUS	1 lab	4d526822d1
20:2640216 IDH3B G>A	20	2640216	2640216	G	A	IDH3B	c.1026C>T	NM_006899.4	NP_008830.2:p.(Ser342=)	NC_000020.10:g.2640216G>A	(Likely) benign	1 lab	4d52e6564f
8:68076677 CSPP1 G>A	8	68076677	68076677	G	A	CSPP1	c.2681G>A	NM_001363131.1	NP_001350060.1:p.(Arg894His)	NC_000008.10:g.68076677G>A	VUS	1 lab	4d5378711e
16:2126164 TSC2 TCA>T	16	2126164	2126167	TCA	T	TSC2	c.2737_2738del	NM_000548.5	NP_000539.2:p.(Thr913Ter)	NC_000016.9:g.2126166_2126167del	(Likely) pathogenic	1 lab	4d55b90695
7:103008190 PSMC2 C>T	7	103008190	103008190	C	T	PSMC2	c.1078C>T	NM_002803.4	NP_002794.1:p.(Arg360Cys)	NC_000007.13:g.103008190C>T	VUS	1 lab	4d55cc636b
12:81063196 MISSING G>A	12	81063196	81063196	G	A	MISSING				NC_000012.11:g.81063196G>A	VUS	1 lab	4d57a5352c
8:22022924 BMP1 C>A	8	22022924	22022924	C	A	BMP1	c.6C>A	NM_006129.4	NP_006120.1:p.(Pro2=)	NC_000008.10:g.22022924C>A	(Likely) benign	1 lab	4d58385d6d
6:24843190 RIPOR2 G>A	6	24843190	24843190	G	A	RIPOR2	c.1820C>T	NM_014722.4	NP_055537.2:p.(Ala607Val)	NC_000006.11:g.24843190G>A	(Likely) benign	1 lab	4d587ba0cb
7:99367428 CYP3A4 G>A	7	99367428	99367428	G	A	CYP3A4	c.484C>T	NM_017460.6	NP_059488.2:p.(Arg162Trp)	NC_000007.13:g.99367428G>A	(Likely) benign	1 lab	ef994d2148
12:91450032 KERA C>T	12	91450032	91450032	C	T	KERA	c.27G>A	NM_007035.3	NP_008966.1:p.(Met9Ile)	NC_000012.11:g.91450032C>T	(Likely) benign	1 lab	4d59db0f1d
17:78184477 SGSH C>T	17	78184477	78184477	C	T	SGSH	c.1283G>A	NM_000199.4	NP_000190.1:p.(Arg428His)	NC_000017.10:g.78184477C>T	(Likely) benign	1 lab	4d5a3ce3e6
6:21595519 SOX4 G>A	6	21595519	21595519	G	A	SOX4	c.754G>A	NM_003107.3	NP_003098.1:p.(Ala252Thr)	NC_000006.11:g.21595519G>A	VUS	1 lab	ef9cfef2dd
1:243727013 AKT3 G>T	1	243727013	243727013	G	T	AKT3				NC_000001.10:g.243727013G>T	(Likely) benign	1 lab	5237fffbca
7:75615242 POR C>T	7	75615242	75615242	C	T	POR	c.1671C>T	NM_001367562.1	NP_001354491.1:p.(Gly557=)	NC_000007.13:g.75615242C>T	VUS	1 lab	4d61a8ebfc
X:20204456 RPS6KA3 A>T	X	20204456	20204456	A	T	RPS6KA3	c.803T>A	NM_004586.2	NP_004577.1:p.(Phe268Tyr)	NC_000023.10:g.20204456A>T	VUS	1 lab	4d643cf842
11:1264055 MUC5B C>T	11	1264055	1264055	C	T	MUC5B	c.5945C>T	NM_002458.2	NP_002449.2:p.(Pro1982Leu)	NC_000011.9:g.1264055C>T	(Likely) benign	1 lab	4d64bc2b10
17:18041561 MYO15A G>C	17	18041561	18041561	G	C	MYO15A	c.5007+1G>C	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18041561G>C	(Likely) pathogenic	1 lab	4d659342c9
4:102004398 PPP3CA A>C	4	102004398	102004398	A	C	PPP3CA	c.805T>G	NM_000944.5	NP_000935.1:p.(Leu269Val)	NC_000004.11:g.102004398A>C	VUS	1 lab	4d65c8bd15
1:39790007 MACF1 T>G	1	39790007	39790007	T	G	MACF1	c.4394T>G	NM_012090.5	NP_036222.3:p.(Leu1465Trp)	NC_000001.10:g.39790007T>G	VUS	1 lab	efa6a06143
X:149680801 MAMLD1 C>T	X	149680801	149680801	C	T	MAMLD1	c.2455C>T	NM_001177465.3	NP_001170936.1:p.(Pro819Ser)	NC_000023.10:g.149680801C>T	(Likely) benign	1 lab	4d696aced0
19:45924554 ERCC1 G>A	19	45924554	45924554	G	A	ERCC1	c.203C>T	NM_001983.3	NP_001974.1:p.(Pro68Leu)	NC_000019.9:g.45924554G>A	VUS	1 lab	4d69c03e77
16:28489136 CLN3 G>A	16	28489136	28489136	G	A	CLN3	c.1119C>T	NM_001042432.1	NP_001035897.1:p.(Leu373=)	NC_000016.9:g.28489136G>A	(Likely) benign	1 lab	4d6a37af78
11:6644311 DCHS1 C>T	11	6644311	6644311	C	T	DCHS1				NC_000011.9:g.6644311C>T	(Likely) benign	1 lab	4d6b5383d3
2:179323340 PJVK TG>T	2	179323340	179323342	TG	T	PJVK	c.655del	NM_001042702.5	NP_001036167.1:p.(Asp219MetfsTer30)	NC_000002.11:g.179323342del	(Likely) pathogenic	1 lab	4d6d30f509
7:146805268 CNTNAP2 G>A	7	146805268	146805268	G	A	CNTNAP2	c.580G>A	NM_014141.5	NP_054860.1:p.(Val194Ile)	NC_000007.13:g.146805268G>A	(Likely) benign	1 lab	4d6d6617a4
11:58919879 FAM111A T>C	11	58919879	58919879	T	C	FAM111A	c.738T>C	NM_022074.3	NP_071357.2:p.(Asn246=)	NC_000011.9:g.58919879T>C	(Likely) benign	1 lab	4d6f030f13
6:143095100 HIVEP2 T>C	6	143095100	143095100	T	C	HIVEP2	c.776A>G	NM_006734.3	NP_006725.3:p.(Asp259Gly)	NC_000006.11:g.143095100T>C	VUS	1 lab	4d6ffa10e3
22:50962082 SCO2 ACTGT>A	22	50962082	50962089	ACTGT	A	SCO2	c.755_758del	NM_005138.3	NP_005129.2:p.(Asp252ValfsTer24)	NC_000022.10:g.50962086_50962089del	VUS	1 lab	efa6d02766
4:6621735 MAN2B2 C>T	4	6621735	6621735	C	T	MAN2B2	c.2896C>T	NM_015274.3	NP_056089.1:p.(Arg966Cys)	NC_000004.11:g.6621735C>T	VUS	1 lab	efa882cff2
6:90340434 ANKRD6 G>A	6	90340434	90340434	G	A	ANKRD6	c.1895G>A	NM_001242811.1	NP_001229740.1:p.(Arg632His)	NC_000006.11:g.90340434G>A	VUS	1 lab	4d71a3fc82
10:71129247 HK1 G>C	10	71129247	71129247	G	C	HK1	c.847G>C	NM_001322365.1	NP_001309294.1:p.(Val283Leu)	NC_000010.10:g.71129247G>C	VUS	1 lab	4d7210ccb7
16:29495110 NPIPB12 C>T	16	29495110	29495110	C	T	NPIPB12	c.2687G>A	NM_001355401.1	NP_001342330.1:p.(Arg896Gln)	NC_000016.9:g.29495110C>T	(Likely) benign	1 lab	4d7499dfc2
17:79503189 FSCN2 T>TTA	17	79503189	79503191	T	TTA	FSCN2	c.1002_1003insAT	NM_001077182.2	NP_001070650.1:p.(Glu335MetfsTer10)	NC_000017.10:g.79503190_79503191insAT	VUS	1 lab	4d763b76f7
7:98581716 TRRAP C>T	7	98581716	98581716	C	T	TRRAP	c.8948C>T	NM_003496.4	NP_003487.1:p.(Ala2983Val)	NC_000007.13:g.98581716C>T	VUS	1 lab	efa98edf41
15:80473505 FAH A>G	15	80473505	80473505	A	G	FAH	c.1180+4A>G	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80473505A>G	(Likely) benign	1 lab	efa9a5b0d1
1:154574346 ADAR C>T	1	154574346	154574346	C	T	ADAR	c.772G>A	NM_001111.5	NP_001102.3:p.(Gly258Arg)	NC_000001.10:g.154574346C>T	(Likely) benign	1 lab	4d7913bd74
17:18003737 DRG2 C>T	17	18003737	18003737	C	T	DRG2	c.528C>T	NM_001388.5	NP_001379.1:p.(Asn176=)	NC_000017.10:g.18003737C>T	(Likely) benign	1 lab	4d7973f986
X:32398713 DMD G>A	X	32398713	32398713	G	A	DMD	c.4390C>T	NM_004010.3	NP_004001.1:p.(Leu1464=)	NC_000023.10:g.32398713G>A	(Likely) benign	1 lab	4d79c48719
16:15931856 MYH11 G>A	16	15931856	15931856	G	A	MYH11	c.254C>T	NM_001040113.1	NP_001035202.1:p.(Ser85Phe)	NC_000016.9:g.15931856G>A	VUS	1 lab	4d79d8acf2
5:89971127 ADGRV1 C>T	5	89971127	89971127	C	T	ADGRV1	c.5178C>T	NM_032119.4	NP_115495.3:p.(Ser1726=)	NC_000005.9:g.89971127C>T	(Likely) benign	1 lab	4d79f4e73d
X:101409071 BEX5 T>C	X	101409071	101409071	T	C	BEX5	c.167A>G	NM_001159560.1	NP_001153032.1:p.(Asp56Gly)	NC_000023.10:g.101409071T>C	VUS	1 lab	4d7b586506
X:5811605 NLGN4X G>C	X	5811605	5811605	G	C	NLGN4X	c.1704C>G	NM_001282145.1	NP_001269074.1:p.(Leu568=)	NC_000023.10:g.5811605G>C	(Likely) benign	1 lab	4d7b8626cc
3:10183754 VHL ATCT>A	3	10183754	10183760	ATCT	A	VHL	c.227_229del	NM_000551.4	NP_000542.1:p.(Phe76del)	NC_000003.11:g.10183758_10183760del	(Likely) pathogenic	1 lab	4d7bbe072b
5:10261828 CCT5 A>G	5	10261828	10261828	A	G	CCT5	c.985A>G	NM_001306154.1	NP_001293083.1:p.(Thr329Ala)	NC_000005.9:g.10261828A>G	VUS	1 lab	4d7e40c87f
12:48388219 COL2A1 C>T	12	48388219	48388219	C	T	COL2A1	c.804G>A	NM_001844.4	NP_001835.3:p.(Pro268=)	NC_000012.11:g.48388219C>T	(Likely) benign	1 lab	4d7f3a96b0
11:67808828 TCIRG1 C>T	11	67808828	67808828	C	T	TCIRG1				NC_000011.9:g.67808828C>T	VUS	1 lab	4d80061f6d
18:56247180 ALPK2 T>C	18	56247180	56247180	T	C	ALPK2	c.828A>G	NM_052947.4	NP_443179.3:p.(Leu276=)	NC_000018.9:g.56247180T>C	(Likely) benign	1 lab	4d8116d7b1
3:52324423 GLYCTK G>A	3	52324423	52324423	G	A	GLYCTK	c.65G>A	NM_145262.3	NP_660305.2:p.(Arg22Gln)	NC_000003.11:g.52324423G>A	(Likely) benign	1 lab	4d8240f926
10:112404375 RBM20 CAAG>C	10	112404375	112404378	CAAG	C	RBM20	c.164_166del	NM_001134363.3	NP_001127835.2:p.(Gln55_Ala56delinsPro)	NC_000010.10:g.112404376_112404378del	(Likely) benign	1 lab	4d825e69c6
14:23871685 MYH6 C>G	14	23871685	23871685	C	G	MYH6	c.1129G>C	NM_002471.4	NP_002462.2:p.(Asp377His)	NC_000014.8:g.23871685C>G	VUS	1 lab	efab65a4b7
1:237789017 RYR2 G>A	1	237789017	237789017	G	A	RYR2	c.6079G>A	NM_001035.3	NP_001026.2:p.(Gly2027Arg)	NC_000001.10:g.237789017G>A	VUS	1 lab	efad8b53c1
11:17660080 OTOG C>G	11	17660080	17660080	C	G	OTOG	c.7914C>G	NM_001277269.1	NP_001264198.1:p.(Cys2638Trp)	NC_000011.9:g.17660080C>G	VUS	1 lab	4d85b9cf5b
X:131205199 STK26 G>A	X	131205199	131205199	G	A	STK26	c.886G>A	NM_016542.3	NP_057626.2:p.(Ala296Thr)	NC_000023.10:g.131205199G>A	(Likely) benign	1 lab	4d85d793a8
9:215387 DOCK8-AS1 A>G	9	215387	215387	A	G	DOCK8-AS1	c.10T>C	NM_152569.2	NP_689782.2:p.(Ser4Pro)	NC_000009.11:g.215387A>G	(Likely) benign	1 lab	4d867fa722
17:15928328 TTC19 TAGTGG>T	17	15928328	15928334	TAGTGG	T	TTC19	c.677-1_680del	NM_017775.4	NP_060245.3:p.?	NC_000017.10:g.15928330_15928334del	(Likely) pathogenic	1 lab	4d8b08e0c5
1:160012115 KCNJ10 G>A	1	160012115	160012115	G	A	KCNJ10	c.208C>T	NM_002241.4	NP_002232.2:p.(Leu70Phe)	NC_000001.10:g.160012115G>A	VUS	1 lab	4d8b2626ba
11:70829968 SHANK2 C>T	11	70829968	70829968	C	T	SHANK2	c.318G>A	NM_012309.4	NP_036441.2:p.(Pro106=)	NC_000011.9:g.70829968C>T	(Likely) benign	1 lab	4d8be1e70f
1:231502230 EGLN1 T>TA	1	231502230	231502244	T	TA	EGLN1	c.1217-10dup	NM_022051.2	NP_071334.1:p.?	NC_000001.10:g.231502244dup	(Likely) benign	1 lab	4d8c8a7309
2:238428574 MLPH C>T	2	238428574	238428574	C	T	MLPH	c.577C>T	NM_024101.5	NP_077006.1:p.(His193Tyr)	NC_000002.11:g.238428574C>T	VUS	1 lab	4d8c90ff46
11:1270171 MUC5B C>A	11	1270171	1270171	C	A	MUC5B	c.12061C>A	NM_002458.2	NP_002449.2:p.(Pro4021Thr)	NC_000011.9:g.1270171C>A	(Likely) benign	1 lab	4d8eab3efe
10:61835170 ANK3 T>C	10	61835170	61835170	T	C	ANK3	c.5469A>G	NM_020987.5	NP_066267.2:p.(Pro1823=)	NC_000010.10:g.61835170T>C	(Likely) benign	1 lab	4d8f109dc1
7:2578566 BRAT1 TCA>T	7	2578566	2578568	TCA	T	BRAT1	c.1771-170_1771-169del	NM_152743.4	NP_689956.2:p.?	NC_000007.13:g.2578567_2578568del	(Likely) pathogenic	1 lab	4d8f899064
15:41797478 LTK C>T	15	41797478	41797478	C	T	LTK	c.1853G>A	NM_002344.6	NP_002335.2:p.(Arg618Gln)	NC_000015.9:g.41797478C>T	(Likely) benign	1 lab	4d8fd3bed7
16:53692693 RPGRIP1L C>T	16	53692693	53692693	C	T	RPGRIP1L	c.1341G>A	NM_015272.4	NP_056087.2:p.(Leu447=)	NC_000016.9:g.53692693C>T	(Likely) benign	1 lab	4d91cb503b
15:62302720 VPS13C T>A	15	62302720	62302720	T	A	VPS13C	c.962A>T	NM_001018088.2	NP_001018098.1:p.(Asp321Val)	NC_000015.9:g.62302720T>A	VUS	1 lab	4d920dd7cf
X:39911533 BCOR C>A	X	39911533	39911533	C	A	BCOR	c.5097G>T	NM_001123385.1	NP_001116857.1:p.(Arg1699=)	NC_000023.10:g.39911533C>A	(Likely) benign	1 lab	4d922805d0
17:7578422 TP53 T>C	17	7578422	7578422	T	C	TP53	c.508A>G	NM_001126114.2	NP_001119586.1:p.(Thr170Ala)	NC_000017.10:g.7578422T>C	(Likely) benign	1 lab	4d95e29d35
21:46925140 COL18A1 C>T	21	46925140	46925140	C	T	COL18A1	c.4197C>T	NM_130444.3	NP_569711.2:p.(Pro1399=)	NC_000021.8:g.46925140C>T	(Likely) benign	1 lab	4d96b4b270
7:1518389 INTS1 C>A	7	1518389	1518389	C	A	INTS1	c.4462G>T	NM_001080453.3	NP_001073922.2:p.(Ala1488Ser)	NC_000007.13:g.1518389C>A	(Likely) benign	1 lab	4d96bd3aa3
19:51883477 LIM2 C>T	19	51883477	51883477	C	T	LIM2	c.626G>A	NM_030657.3	NP_085915.2:p.(Arg209Gln)	NC_000019.9:g.51883477C>T	VUS	1 lab	4d970a0643
5:169141221 DOCK2 C>T	5	169141221	169141221	C	T	DOCK2	c.1843+6C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169141221C>T	(Likely) benign	1 lab	4d996efb91
20:39991611 EMILIN3 G>A	20	39991611	39991611	G	A	EMILIN3	c.598C>T	NM_052846.2	NP_443078.1:p.(Leu200Phe)	NC_000020.10:g.39991611G>A	VUS	1 lab	4d9b443373
1:156642658 NES A>G	1	156642658	156642658	A	G	NES	c.1322T>C	NM_006617.1	NP_006608.1:p.(Leu441Pro)	NC_000001.10:g.156642658A>G	VUS	1 lab	4d9b479af4
2:233194612 DIS3L2 A>AC	2	233194612	233194618	A	AC	DIS3L2	c.1835dup	NM_152383.4	NP_689596.4:p.(Pro613AlafsTer8)	NC_000002.11:g.233194618dup	(Likely) pathogenic	1 lab	4d9b9d9db6
17:30821828 MYO1D G>A	17	30821828	30821828	G	A	MYO1D	c.2970C>T	NM_015194.3	NP_056009.1:p.(Pro990=)	NC_000017.10:g.30821828G>A	(Likely) benign	1 lab	4d9efd44cc
17:29556475 NF1 C>T	17	29556475	29556475	C	T	NF1	c.2842C>T	NM_000267.3	NP_000258.1:p.(Gln948Ter)	NC_000017.10:g.29556475C>T	(Likely) pathogenic	1 lab	4d9f316629
2:109389463 RANBP2 G>A	2	109389463	109389463	G	A	RANBP2	c.8253G>A	NM_006267.5	NP_006258.3:p.(Glu2751=)	NC_000002.11:g.109389463G>A	(Likely) benign	1 lab	efb9b8cdb0
22:21351669 LZTR1 C>T	22	21351669	21351669	C	T	LZTR1	c.*32C>T	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21351669C>T	(Likely) benign	1 lab	4da0eaf86a
10:54011359 PRKG1 A>G	10	54011359	54011359	A	G	PRKG1	c.1106A>G	NM_006258.4	NP_006249.1:p.(Asn369Ser)	NC_000010.10:g.54011359A>G	VUS	1 lab	4da24a11e6
20:42815121 JPH2 C>G	20	42815121	42815121	C	G	JPH2	c.225G>C	NM_020433.4	NP_065166.2:p.(Glu75Asp)	NC_000020.10:g.42815121C>G	VUS	1 lab	4da2a86070
9:135798847 TSC1 G>A	9	135798847	135798847	G	A	TSC1	c.396C>T	NM_000368.4	NP_000359.1:p.(Gly132=)	NC_000009.11:g.135798847G>A	(Likely) benign	1 lab	4da44f0626
7:55238088 EGFR C>T	7	55238088	55238088	C	T	EGFR	c.1969C>T	NM_201284.2	NP_958441.1:p.(Gln657Ter)	NC_000007.13:g.55238088C>T	VUS	1 lab	efba7ade5b
17:29663652 NF1 G>T	17	29663652	29663652	G	T	NF1	c.6085-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663652G>T	(Likely) pathogenic	1 lab	4dab75959b
11:108225611 ATM T>C	11	108225611	108225611	T	C	ATM	c.8850+10T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108225611T>C	(Likely) benign	1 lab	4dabae3a0a
2:88890556 EIF2AK3 A>G	2	88890556	88890556	A	G	EIF2AK3	c.782T>C	NM_004836.6	NP_004827.4:p.(Val261Ala)	NC_000002.11:g.88890556A>G	VUS	1 lab	4dac7cbc72
4:17528561 CLRN2 T>C	4	17528561	17528561	T	C	CLRN2	c.555T>C	NM_001079827.2	NP_001073296.1:p.(Tyr185=)	NC_000004.11:g.17528561T>C	(Likely) benign	1 lab	4dac9d617d
2:136566467 LCT G>A	2	136566467	136566467	G	A	LCT	c.3450C>T	NM_002299.2	NP_002290.2:p.(Ser1150=)	NC_000002.11:g.136566467G>A	(Likely) benign	1 lab	4dacd133d1
1:45807641 TOE1 T>C	1	45807641	45807641	T	C	TOE1	c.354T>C	NM_025077.4	NP_079353.3:p.(Ala118=)	NC_000001.10:g.45807641T>C	(Likely) benign	1 lab	4dadca1132
22:51158694 MISSING C>G	22	51158694	51158694	C	G	MISSING				NC_000022.10:g.51158694C>G	(Likely) benign	1 lab	4daecef469
14:58737649 PSMA3 C>T	14	58737649	58737649	C	T	PSMA3	c.659-3C>T	NM_002788.4	NP_002779.1:p.?	NC_000014.8:g.58737649C>T	(Likely) benign	1 lab	efc2cdff4d
14:23888430 MYH7 G>C	14	23888430	23888430	G	C	MYH7	c.3928C>G	NM_000257.2	NP_000248.2:p.(Gln1310Glu)	NC_000014.8:g.23888430G>C	VUS	1 lab	4daedff450
2:29474102 ALK G>C	2	29474102	29474102	G	C	ALK				NC_000002.11:g.29474102G>C	(Likely) benign	1 lab	4daef3097a
1:8384706 SLC45A1 C>T	1	8384706	8384706	C	T	SLC45A1	c.419C>T	NM_001080397.2	NP_001073866.2:p.(Ala140Val)	NC_000001.10:g.8384706C>T	VUS	1 lab	4db3173b8d
15:34018692 RYR3 C>T	15	34018692	34018692	C	T	RYR3	c.7018C>T	NM_001036.4	NP_001027.3:p.(Pro2340Ser)	NC_000015.9:g.34018692C>T	(Likely) benign	1 lab	4db4f76c2f
13:25457384 CPAP C>T	13	25457384	25457384	C	T	CPAP	c.3948G>A	NM_018451.4	NP_060921.3:p.(Thr1316=)	NC_000013.10:g.25457384C>T	(Likely) benign	1 lab	4db6dfc53b
6:138200247 TNFAIP3 C>CCCTCCTT	6	138200247	138200257	C	CCCTCCTT	TNFAIP3	c.1669_1675dup	NM_001270508.2	NP_001257437.1:p.(Cys559SerfsTer115)	NC_000006.11:g.138200251_138200257dup	VUS	1 lab	4db6eb5fdb
14:102461348 DYNC1H1 A>G	14	102461348	102461348	A	G	DYNC1H1	c.3359A>G	NM_001376.4	NP_001367.2:p.(Tyr1120Cys)	NC_000014.8:g.102461348A>G	VUS	1 lab	4db9d6f67f
3:148917542 CP G>A	3	148917542	148917542	G	A	CP	c.1458C>T	NM_000096.3	NP_000087.1:p.(Asn486=)	NC_000003.11:g.148917542G>A	(Likely) benign	1 lab	4dba5e5128
19:1272229 CIRBP G>A	19	1272229	1272229	G	A	CIRBP	c.681G>A	NM_001300829.2	NP_001287758.1:p.(Glu227=)	NC_000019.9:g.1272229G>A	(Likely) benign	1 lab	4dbadb46cb
16:2123008 TSC2 C>T	16	2123008	2123008	C	T	TSC2	c.2355+24C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2123008C>T	(Likely) benign	1 lab	4dbc4494ce
1:216172349 USH2A A>G	1	216172349	216172349	A	G	USH2A	c.6537T>C	NM_206933.2	NP_996816.2:p.(Tyr2179=)	NC_000001.10:g.216172349A>G	(Likely) benign	1 lab	4dbcd2f9f0
21:46897813 COL18A1 C>T	21	46897813	46897813	C	T	COL18A1	c.1695C>T	NM_030582.4	NP_085059.2:p.(Val565=)	NC_000021.8:g.46897813C>T	(Likely) benign	1 lab	4dbe45ffa6
14:24620708 RNF31 G>T	14	24620708	24620708	G	T	RNF31	c.1752G>T	NM_017999.5	NP_060469.4:p.(Gln584His)	NC_000014.8:g.24620708G>T	(Likely) benign	1 lab	4dbe6cc459
X:17739606 NHS A>C	X	17739606	17739606	A	C	NHS	c.961A>C	NM_001291867.1	NP_001278796.1:p.(Arg321=)	NC_000023.10:g.17739606A>C	(Likely) benign	1 lab	4dbec90578
X:96502799 DIAPH2 A>G	X	96502799	96502799	A	G	DIAPH2	c.2805A>G	NM_006729.4	NP_006720.1:p.(Gln935=)	NC_000023.10:g.96502799A>G	(Likely) benign	1 lab	4dbf4484f9
7:6620295 ZDHHC4 A>G	7	6620295	6620295	A	G	ZDHHC4	c.103A>G	NM_001134387.1	NP_001127859.1:p.(Arg35Gly)	NC_000007.13:g.6620295A>G	(Likely) benign	1 lab	4dbfe23ca3
8:95384482 RAD54B A>T	8	95384482	95384482	A	T	RAD54B	c.2097T>A	NM_001205263.1	NP_001192192.1:p.(Asn699Lys)	NC_000008.10:g.95384482A>T	(Likely) benign	1 lab	4dc0e05c65
2:98353984 ZAP70 C>G	2	98353984	98353984	C	G	ZAP70	c.1338C>G	NM_001079.3	NP_001070.2:p.(Ser446=)	NC_000002.11:g.98353984C>G	(Likely) benign	1 lab	4dc10c4242
X:91132129 PCDH11X G>A	X	91132129	91132129	G	A	PCDH11X	c.890G>A	NM_032968.4	NP_116750.1:p.(Arg297Lys)	NC_000023.10:g.91132129G>A	(Likely) benign	1 lab	4dc173ad87
2:149226424 MBD5 T>A	2	149226424	149226424	T	A	MBD5	c.912T>A	NM_018328.4	NP_060798.2:p.(Thr304=)	NC_000002.11:g.149226424T>A	(Likely) benign	1 lab	4dc49eb54e
5:235466 SDHA G>A	5	235466	235466	G	A	SDHA	c.1260+12G>A	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.235466G>A	(Likely) benign	1 lab	efc3cb88bc
1:19557806 EMC1 G>C	1	19557806	19557806	G	C	EMC1	c.1893C>G	NM_015047.2	NP_055862.1:p.(Val631=)	NC_000001.10:g.19557806G>C	(Likely) benign	1 lab	4dc7a7ea15
22:40814747 MRTFA G>GGCGGGT	22	40814747	40814753	G	GGCGGGT	MRTFA	c.1994_1995insACCCGC	NM_001282662.2	NP_001269591.2:p.(Ala669_Pro670dup)	NC_000022.10:g.40814752_40814753insTGCGGG	(Likely) benign	1 lab	4dc7e4494b
1:237961350 RYR2 A>T	1	237961350	237961350	A	T	RYR2	c.13970A>T	NM_001035.2	NP_001026.2:p.(Tyr4657Phe)	NC_000001.10:g.237961350A>T	VUS	1 lab	4dc875e9c3
14:102901135 TECPR2 G>A	14	102901135	102901135	G	A	TECPR2	c.1981G>A	NM_014844.4	NP_055659.2:p.(Glu661Lys)	NC_000014.8:g.102901135G>A	(Likely) benign	1 lab	4dc92c1a0a
7:102665625 FBXL13 T>C	7	102665625	102665625	T	C	FBXL13	c.380A>G	NM_145032.3	NP_659469.3:p.(Lys127Arg)	NC_000007.13:g.102665625T>C	(Likely) benign	1 lab	4dc93e0aa4
19:7521274 ARHGEF18 C>T	19	7521274	7521274	C	T	ARHGEF18	c.1440C>T	NM_001130955.2	NP_001124427.2:p.(Tyr480=)	NC_000019.9:g.7521274C>T	(Likely) benign	1 lab	4dcb1bd50a
3:4741592 ITPR1 C>T	3	4741592	4741592	C	T	ITPR1	c.4458C>T	NM_001168272.1	NP_001161744.1:p.(Ser1486=)	NC_000003.11:g.4741592C>T	(Likely) benign	1 lab	4dcbaef8ac
16:602172 CAPN15 C>T	16	602172	602172	C	T	CAPN15	c.2467C>T	NM_005632.3	NP_005623.1:p.(Arg823Trp)	NC_000016.9:g.602172C>T	VUS	1 lab	4dccba76ff
17:29576048 NF1 C>T	17	29576048	29576048	C	T	NF1	c.4021C>T	NM_000267.3	NP_000258.1:p.(Gln1341Ter)	NC_000017.10:g.29576048C>T	(Likely) pathogenic	1 lab	4dcd9f1ee1
19:5047509 KDM4B G>C	19	5047509	5047509	G	C	KDM4B	c.455G>C	NM_015015.3	NP_055830.1:p.(Gly152Ala)	NC_000019.9:g.5047509G>C	VUS	1 lab	efc41c5278
5:82836575 VCAN C>A	5	82836575	82836575	C	A	VCAN	c.7753C>A	NM_004385.4	NP_004376.2:p.(Pro2585Thr)	NC_000005.9:g.82836575C>A	VUS	1 lab	4dce4da27e
19:15379843 BRD4 T>G	19	15379843	15379843	T	G	BRD4	c.296A>C	NM_058243.2	NP_490597.1:p.(Lys99Thr)	NC_000019.9:g.15379843T>G	VUS	1 lab	4dcea636da
1:24186374 FUCA1 A>T	1	24186374	24186374	A	T	FUCA1	c.682T>A	NM_000147.4	NP_000138.2:p.(Trp228Arg)	NC_000001.10:g.24186374A>T	VUS	1 lab	4dcee22a63
X:129159289 BCORL1 G>A	X	129159289	129159289	G	A	BCORL1	c.4013G>A	NM_001184772.2	NP_001171701.1:p.(Arg1338Gln)	NC_000023.10:g.129159289G>A	VUS	1 lab	4dd0431c72
1:22987483 C1QB C>T	1	22987483	22987483	C	T	C1QB	c.366C>T	NM_000491.3	NP_000482.3:p.(Ile122=)	NC_000001.10:g.22987483C>T	(Likely) benign	1 lab	4dd101416f
5:73128236 ARHGEF28 G>A	5	73128236	73128236	G	A	ARHGEF28	c.1098G>A	NM_001080479.2	NP_001073948.2:p.(Met366Ile)	NC_000005.9:g.73128236G>A	(Likely) benign	1 lab	4dd1d0e65e
X:99657567 PCDH19 C>A	X	99657567	99657567	C	A	PCDH19	c.2571G>T	NM_001184880.1	NP_001171809.1:p.(Gly857=)	NC_000023.10:g.99657567C>A	(Likely) benign	1 lab	4dd389c4ac
14:76964761 ESRRB T>C	14	76964761	76964761	T	C	ESRRB	c.1262T>C	NM_004452.3	NP_004443.3:p.(Met421Thr)	NC_000014.8:g.76964761T>C	VUS	1 lab	4dd44a26c0
6:169648761 THBS2 G>A	6	169648761	169648761	G	A	THBS2	c.360C>T	NM_003247.3	NP_003238.2:p.(Pro120=)	NC_000006.11:g.169648761G>A	(Likely) benign	1 lab	4dd44f0cc9
10:95353677 RBP4 C>T	10	95353677	95353677	C	T	RBP4	c.471G>A	NM_006744.3	NP_006735.2:p.(Arg157=)	NC_000010.10:g.95353677C>T	(Likely) benign	1 lab	4dd4e07844
9:14857590 FREM1 T>G	9	14857590	14857590	T	G	FREM1	c.789A>C	NM_144966.5	NP_659403.4:p.(Gln263His)	NC_000009.11:g.14857590T>G	(Likely) benign	1 lab	4dd4e4057a
22:27021547 CRYBA4 C>T	22	27021547	27021547	C	T	CRYBA4	c.261C>T	NM_001886.2	NP_001877.1:p.(Pro87=)	NC_000022.10:g.27021547C>T	(Likely) benign	1 lab	4dd71885f9
X:54319441 WNK3 C>T	X	54319441	54319441	C	T	WNK3	c.1917G>A	NM_020922.4	NP_065973.2:p.(Pro639=)	NC_000023.10:g.54319441C>T	(Likely) benign	1 lab	4dd7cf522d
10:102753029 TWNK C>G	10	102753029	102753029	C	G	TWNK	c.1817C>G	NM_021830.4	NP_068602.2:p.(Ser606Cys)	NC_000010.10:g.102753029C>G	VUS	1 lab	4dd7f6e4ac
17:4926883 KIF1C C>A	17	4926883	4926883	C	A	KIF1C	c.2749C>A	NM_006612.5	NP_006603.2:p.(Pro917Thr)	NC_000017.10:g.4926883C>A	VUS	1 lab	4ddb233100
20:43615784 STK4 T>C	20	43615784	43615784	T	C	STK4	c.372T>C	NM_006282.2	NP_006273.1:p.(Asp124=)	NC_000020.10:g.43615784T>C	(Likely) benign	1 lab	4ddbd4d3ad
20:2636618 NOP56 C>G	20	2636618	2636618	C	G	NOP56	c.948C>G	NM_006392.3	NP_006383.2:p.(Thr316=)	NC_000020.10:g.2636618C>G	(Likely) benign	1 lab	4ddc7762ee
16:77325185 ADAMTS18 C>T	16	77325185	77325185	C	T	ADAMTS18	c.3380G>A	NM_199355.3	NP_955387.1:p.(Trp1127Ter)	NC_000016.9:g.77325185C>T	(Likely) pathogenic	1 lab	4ddd8d7dff
4:123665164 BBS12 G>C	4	123665164	123665164	G	C	BBS12	c.2117G>C	NM_001178007.1	NP_001171478.1:p.(Gly706Ala)	NC_000004.11:g.123665164G>C	VUS	1 lab	4ddd8f71f5
16:72822392 ZFHX3 T>C	16	72822392	72822392	T	C	ZFHX3	c.9783A>G	NM_006885.3	NP_008816.3:p.(Lys3261=)	NC_000016.9:g.72822392T>C	(Likely) benign	1 lab	4ddf5db260
7:151878862 KMT2C C>T	7	151878862	151878862	C	T	KMT2C	c.6083G>A	NM_170606.3	NP_733751.2:p.(Arg2028Gln)	NC_000007.13:g.151878862C>T	VUS	1 lab	efc5f38257
2:241680767 KIF1A G>A	2	241680767	241680767	G	A	KIF1A	c.3668C>T	NM_001244008.1	NP_001230937.1:p.(Thr1223Met)	NC_000002.11:g.241680767G>A	(Likely) benign	1 lab	4de234bcf8
16:426236 PGAP6 G>A	16	426236	426236	G	A	PGAP6	c.1124C>T	NM_021259.3	NP_067082.2:p.(Ser375Leu)	NC_000016.9:g.426236G>A	(Likely) benign	1 lab	4de5654999
3:53199116 PRKCD A>G	3	53199116	53199116	A	G	PRKCD	c.-131-4A>G	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53199116A>G	(Likely) benign	1 lab	4de68aa67f
11:17632825 OTOG C>T	11	17632825	17632825	C	T	OTOG	c.6014C>T	NM_001277269.1	NP_001264198.1:p.(Ser2005Leu)	NC_000011.9:g.17632825C>T	VUS	1 lab	4de746941e
17:29670148 NF1 TA>T	17	29670148	29670152	TA	T	NF1	c.7188del	NM_001042492.3	NP_001035957.1:p.(Tyr2398ThrfsTer20)	NC_000017.10:g.29670152del	(Likely) pathogenic	1 lab	4de818cb8e
3:42244093 TRAK1 C>T	3	42244093	42244093	C	T	TRAK1	c.1593C>T	NM_001349247.1	NP_001336176.1:p.(Gly531=)	NC_000003.11:g.42244093C>T	VUS	1 lab	4de8e505eb
20:3209749 SLC4A11 C>T	20	3209749	3209749	C	T	SLC4A11	c.2139G>A	NM_001174090.1	NP_001167561.1:p.(Pro713=)	NC_000020.10:g.3209749C>T	(Likely) benign	1 lab	4dec6a4136
18:6950871 LAMA1 G>A	18	6950871	6950871	G	A	LAMA1	c.8307C>T	NM_005559.3	NP_005550.2:p.(His2769=)	NC_000018.9:g.6950871G>A	(Likely) benign	1 lab	4ded403ab4
17:42429501 GRN G>A	17	42429501	42429501	G	A	GRN	c.1298G>A	NM_002087.2	NP_002078.1:p.(Arg433Gln)	NC_000017.10:g.42429501G>A	(Likely) benign	1 lab	4dedf1f9d7
X:110925386 ALG13 A>G	X	110925386	110925386	A	G	ALG13	c.108A>G	NM_001099922.2	NP_001093392.1:p.(Arg36=)	NC_000023.10:g.110925386A>G	(Likely) benign	1 lab	4def5887bf
17:78350313 RNF213 G>A	17	78350313	78350313	G	A	RNF213	c.13398G>A	NM_001256071.2	NP_001243000.2:p.(Lys4466=)	NC_000017.10:g.78350313G>A	(Likely) benign	1 lab	4df04eac39
1:120469214 NOTCH2 C>T	1	120469214	120469214	C	T	NOTCH2	c.3913G>A	NM_024408.3	NP_077719.2:p.(Val1305Ile)	NC_000001.10:g.120469214C>T	(Likely) benign	1 lab	4df2ebb2b7
16:77375665 ADAMTS18 A>G	16	77375665	77375665	A	G	ADAMTS18	c.1130T>C	NM_001326358.1	NP_001313287.1:p.(Val377Ala)	NC_000016.9:g.77375665A>G	VUS	1 lab	4df5dd236e
4:128814953 PLK4 C>G	4	128814953	128814953	C	G	PLK4	c.2479C>G	NM_014264.4	NP_055079.3:p.(Pro827Ala)	NC_000004.11:g.128814953C>G	(Likely) benign	1 lab	4df6f27d23
16:2131647 TSC2 C>A	16	2131647	2131647	C	A	TSC2	c.3662C>A	NM_000548.3	NP_000539.2:p.(Ser1221Ter)	NC_000016.9:g.2131647C>A	(Likely) pathogenic	1 lab	4df9f4cafd
19:49671584 TRPM4 C>T	19	49671584	49671584	C	T	TRPM4	c.516C>T	NM_017636.3	NP_060106.2:p.(Asp172=)	NC_000019.9:g.49671584C>T	(Likely) benign	1 lab	4dfaed9864
X:39932475 BCOR G>A	X	39932475	39932475	G	A	BCOR	c.2124C>T	NM_001123385.1	NP_001116857.1:p.(Thr708=)	NC_000023.10:g.39932475G>A	(Likely) benign	1 lab	4dfc249f9d
14:75018993 LTBP2 C>T	14	75018993	75018993	C	T	LTBP2	c.1296G>A	NM_000428.2	NP_000419.1:p.(Pro432=)	NC_000014.8:g.75018993C>T	(Likely) benign	1 lab	4dfd74cb62
1:2234516 SKI C>T	1	2234516	2234516	C	T	SKI	c.1069C>T	NM_003036.3	NP_003027.1:p.(Arg357Trp)	NC_000001.10:g.2234516C>T	VUS	1 lab	4dfe9d7d22
6:111697768 REV3L T>C	6	111697768	111697768	T	C	REV3L	c.1556A>G	NM_001286431.1	NP_001273360.1:p.(Glu519Gly)	NC_000006.11:g.111697768T>C	VUS	1 lab	4dfefb9af3
16:2120561 TSC2 G>A	16	2120561	2120561	G	A	TSC2	c.1821G>A	NM_000548.3	NP_000539.2:p.(Ala607=)	NC_000016.9:g.2120561G>A	(Likely) benign	1 lab	4e009ed677
7:75610830 POR C>G	7	75610830	75610830	C	G	POR	c.642-5C>G	NM_000941.2	NP_000932.3:p.?	NC_000007.13:g.75610830C>G	(Likely) benign	1 lab	4e019c074f
20:45354414 SLC2A10 C>A	20	45354414	45354414	C	A	SLC2A10	c.739C>A	NM_030777.3	NP_110404.1:p.(Gln247Lys)	NC_000020.10:g.45354414C>A	VUS	1 lab	4e01a7e937
22:38151567 TRIOBP C>T	22	38151567	38151567	C	T	TRIOBP	c.5588C>T	NM_001039141.2	NP_001034230.1:p.(Ala1863Val)	NC_000022.10:g.38151567C>T	VUS	1 lab	4e04bcee37
10:69935118 MYPN C>T	10	69935118	69935118	C	T	MYPN	c.2603C>T	NM_032578.3	NP_115967.2:p.(Pro868Leu)	NC_000010.10:g.69935118C>T	VUS	1 lab	4e0556eca8
14:91804399 CCDC88C G>A	14	91804399	91804399	G	A	CCDC88C	c.1000C>T	NM_001080414.3	NP_001073883.2:p.(Arg334Cys)	NC_000014.8:g.91804399G>A	VUS	1 lab	4e05bcbdcf
15:40914502 KNL1 TAAAC>T	15	40914502	40914509	TAAAC	T	KNL1	c.2044_2047del	NM_144508.5	NP_653091.3:p.(Gln682Ter)	NC_000015.9:g.40914506_40914509del	(Likely) pathogenic	1 lab	4e07cd3d73
8:119122542 EXT1 C>CCT	8	119122542	119122547	C	CCT	EXT1	c.742_743dup	NM_000127.2	NP_000118.2:p.(Phe250GlyfsTer3)	NC_000008.10:g.119122546_119122547dup	(Likely) pathogenic	1 lab	4e07e25700
9:134049512 NUP214 A>G	9	134049512	134049512	A	G	NUP214	c.2964A>G	NM_005085.3	NP_005076.3:p.(Ser988=)	NC_000009.11:g.134049512A>G	(Likely) benign	1 lab	4e0836067f
X:139038112 CXorf66 G>A	X	139038112	139038112	G	A	CXorf66	c.1029C>T	NM_001013403.2	NP_001013421.1:p.(Ile343=)	NC_000023.10:g.139038112G>A	(Likely) benign	1 lab	4e084f746c
16:89253873 CDH15 G>C	16	89253873	89253873	G	C	CDH15	c.700G>C	NM_004933.3	NP_004924.1:p.(Asp234His)	NC_000016.9:g.89253873G>C	VUS	1 lab	efc7b5653b
7:47886632 PKD1L1 G>A	7	47886632	47886632	G	A	PKD1L1	c.4998C>T	NM_138295.4	NP_612152.1:p.(Asp1666=)	NC_000007.13:g.47886632G>A	(Likely) benign	1 lab	4e09dd30d3
16:2122857 TSC2 GC>G	16	2122857	2122860	GC	G	TSC2	c.2231del	NM_000548.5	NP_000539.2:p.(Pro744GlnfsTer27)	NC_000016.9:g.2122860del	(Likely) pathogenic	1 lab	4e0a296ec4
17:29490230 NF1 TG>T	17	29490230	29490231	TG	T	NF1	c.316del	NM_001042492.3	NP_001035957.1:p.(Glu106LysfsTer59)	NC_000017.10:g.29490231del	(Likely) pathogenic	1 lab	4e0acfd4d8
3:43121522 POMGNT2 G>A	3	43121522	43121522	G	A	POMGNT2	c.1402C>T	NM_032806.5	NP_116195.2:p.(Arg468Trp)	NC_000003.11:g.43121522G>A	VUS	1 lab	4e0b0f0beb
4:15482830 CC2D2A T>C	4	15482830	15482830	T	C	CC2D2A	c.257T>C	NM_001164720.1	NP_001158192.1:p.(Val86Ala)	NC_000004.11:g.15482830T>C	VUS	1 lab	4e0b581298
1:152325987 FLG2 A>C	1	152325987	152325987	A	C	FLG2	c.4275T>G	NM_001014342.3	NP_001014364.1:p.(Ser1425Arg)	NC_000001.10:g.152325987A>C	VUS	1 lab	efcbe8428c
6:3078165 RIPK1 C>T	6	3078165	3078165	C	T	RIPK1	c.317C>T	NM_003804.5	NP_003795.2:p.(Ala106Val)	NC_000006.11:g.3078165C>T	(Likely) benign	1 lab	4e0c60b601
19:36004369 DMKN G>A	19	36004369	36004369	G	A	DMKN	c.9C>T	NM_033317.5	NP_201574.4:p.(Phe3=)	NC_000019.9:g.36004369G>A	(Likely) benign	1 lab	4e0ef3ffe8
7:130040551 CEP41 C>T	7	130040551	130040551	C	T	CEP41	c.754G>A	NM_018718.2	NP_061188.1:p.(Gly252Arg)	NC_000007.13:g.130040551C>T	VUS	1 lab	4e0f66a9d3
11:118963201 HMBS T>C	11	118963201	118963201	T	C	HMBS	c.739T>C	NM_000190.4	NP_000181.2:p.(Cys247Arg)	NC_000011.9:g.118963201T>C	(Likely) pathogenic	1 lab	4e0faeef76
18:57106768 CCBE1 G>A	18	57106768	57106768	G	A	CCBE1	c.951+7C>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57106768G>A	(Likely) benign	1 lab	4e1039116b
7:133863346 LRGUK A>G	7	133863346	133863346	A	G	LRGUK	c.1199A>G	NM_144648.2	NP_653249.1:p.(Gln400Arg)	NC_000007.13:g.133863346A>G	VUS	1 lab	4e10da4027
1:207651227 CR2 C>A	1	207651227	207651227	C	A	CR2	c.2903-3C>A	NM_001006658.2	NP_001006659.1:p.?	NC_000001.10:g.207651227C>A	VUS	1 lab	4e11319b0d
11:6661299 DCHS1 C>T	11	6661299	6661299	C	T	DCHS1				NC_000011.9:g.6661299C>T	(Likely) benign	1 lab	4e1143fa09
19:54627885 PRPF31 C>T	19	54627885	54627885	C	T	PRPF31	c.705C>T	NM_015629.3	NP_056444.3:p.(Ala235=)	NC_000019.9:g.54627885C>T	(Likely) benign	1 lab	4e13956a4f
16:67861397 TSNAXIP1 C>T	16	67861397	67861397	C	T	TSNAXIP1	c.1651C>T	NM_018430.3	NP_060900.2:p.(Pro551Ser)	NC_000016.9:g.67861397C>T	VUS	1 lab	4e13b8820a
7:98985834 ARPC1B C>CAGCG	7	98985834	98985838	C	CAGCG	ARPC1B	c.343_346dup	NM_005720.4	NP_005711.1:p.(Gly116GlufsTer16)	NC_000007.13:g.98985835_98985838dup	(Likely) pathogenic	1 lab	efcd5534d9
5:138665061 MATR3 C>T	5	138665061	138665061	C	T	MATR3	c.2521C>T	NM_199189.2	NP_954659.1:p.(Arg841Cys)	NC_000005.9:g.138665061C>T	VUS	1 lab	4e150fa337
7:146829418 CNTNAP2 C>T	7	146829418	146829418	C	T	CNTNAP2	c.1165C>T	NM_014141.5	NP_054860.1:p.(Arg389Trp)	NC_000007.13:g.146829418C>T	VUS	1 lab	4e170e726b
3:142176485 ATR G>A	3	142176485	142176485	G	A	ATR	c.7616C>T	NM_001184.4	NP_001175.2:p.(Thr2539Ile)	NC_000003.11:g.142176485G>A	VUS	1 lab	efcf773979
13:25480285 CPAP T>C	13	25480285	25480285	T	C	CPAP	c.1891A>G	NM_018451.5	NP_060921.3:p.(Ile631Val)	NC_000013.10:g.25480285T>C	(Likely) benign	1 lab	efd1d7cd3d
3:121981220 CASR T>C	3	121981220	121981220	T	C	CASR	c.1338T>C	NM_001178065.1	NP_001171536.1:p.(Asn446=)	NC_000003.11:g.121981220T>C	(Likely) benign	1 lab	4e1b4864be
5:89979700 ADGRV1 G>A	5	89979700	89979700	G	A	ADGRV1	c.5962G>A	NM_032119.4	NP_115495.3:p.(Val1988Ile)	NC_000005.9:g.89979700G>A	(Likely) benign	1 lab	4e1bb7f6bf
21:45947285 TSPEAR G>T	21	45947285	45947285	G	T	TSPEAR	c.835C>A	NM_001272037.1	NP_001258966.1:p.(Arg279Ser)	NC_000021.8:g.45947285G>T	VUS	1 lab	4e1f38cd3d
8:144992254 PLEC C>T	8	144992254	144992254	C	T	PLEC	c.12146G>A	NM_201380.3	NP_958782.1:p.(Arg4049Gln)	NC_000008.10:g.144992254C>T	(Likely) benign	1 lab	4e1f65fa35
22:25145747 PIWIL3 A>G	22	25145747	25145747	A	G	PIWIL3	c.1129T>C	NM_001008496.3	NP_001008496.2:p.(Leu377=)	NC_000022.10:g.25145747A>G	(Likely) benign	1 lab	4e20203a48
2:170055361 LRP2 C>T	2	170055361	170055361	C	T	LRP2	c.8513G>A	NM_004525.3	NP_004516.2:p.(Arg2838His)	NC_000002.11:g.170055361C>T	VUS	1 lab	4e2235b941
1:186107048 HMCN1 G>A	1	186107048	186107048	G	A	HMCN1	c.13868G>A	NM_031935.2	NP_114141.2:p.(Arg4623Gln)	NC_000001.10:g.186107048G>A	VUS	1 lab	4e223a0ccd
16:3569983 CLUAP1 A>G	16	3569983	3569983	A	G	CLUAP1	c.660A>G	NM_015041.2	NP_055856.1:p.(Arg220=)	NC_000016.9:g.3569983A>G	(Likely) benign	1 lab	4e228dfa0a
10:121431847 BAG3 G>A	10	121431847	121431847	G	A	BAG3	c.588G>A	NM_004281.3	NP_004272.2:p.(Leu196=)	NC_000010.10:g.121431847G>A	(Likely) benign	1 lab	4e22b0eb25
15:49059275 CEP152 C>T	15	49059275	49059275	C	T	CEP152	c.2262G>A	NM_001194998.1	NP_001181927.1:p.(Glu754=)	NC_000015.9:g.49059275C>T	(Likely) benign	1 lab	4e2360e6b5
15:38643714 SPRED1 C>G	15	38643714	38643714	C	G	SPRED1	c.1184C>G	NM_152594.2	NP_689807.1:p.(Thr395Ser)	NC_000015.9:g.38643714C>G	VUS	1 lab	4e249f89fd
X:36298730 CFAP47 G>C	X	36298730	36298730	G	C	CFAP47	c.7573G>C	NM_001304548.1	NP_001291477.1:p.(Asp2525His)	NC_000023.10:g.36298730G>C	VUS	1 lab	4e253e84a5
X:153186204 ARHGAP4 C>T	X	153186204	153186204	C	T	ARHGAP4	c.557G>A	NM_001164741.1	NP_001158213.1:p.(Arg186Gln)	NC_000023.10:g.153186204C>T	(Likely) benign	1 lab	4e26523aad
16:624108 PIGQ G>A	16	624108	624108	G	A	PIGQ	c.34G>A	NM_004204.3	NP_004195.2:p.(Val12Ile)	NC_000016.9:g.624108G>A	(Likely) benign	1 lab	4e26f2dec5
10:17276796 VIM A>G	10	17276796	17276796	A	G	VIM	c.987A>G	NM_003380.4	NP_003371.2:p.(Glu329=)	NC_000010.10:g.17276796A>G	(Likely) benign	1 lab	4e27432371
17:29657415 NF1 A>C	17	29657415	29657415	A	C	NF1	c.5648A>C	NM_000267.3	NP_000258.1:p.(Asn1883Thr)	NC_000017.10:g.29657415A>C	(Likely) pathogenic	1 lab	4e27654168
7:83023608 SEMA3E C>T	7	83023608	83023608	C	T	SEMA3E	c.1500+5G>A	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83023608C>T	(Likely) benign	1 lab	4e277aadde
2:29462632 ALK C>T	2	29462632	29462632	C	T	ALK				NC_000002.11:g.29462632C>T	VUS	1 lab	4e285bc59d
1:99771822 PLPPR4 G>T	1	99771822	99771822	G	T	PLPPR4	c.1548G>T	NM_014839.4	NP_055654.2:p.(Met516Ile)	NC_000001.10:g.99771822G>T	(Likely) benign	1 lab	4e2973d6ea
1:45226349 KIF2C T>C	1	45226349	45226349	T	C	KIF2C	c.1496T>C	NM_001297656.1	NP_001284585.1:p.(Ile499Thr)	NC_000001.10:g.45226349T>C	VUS	1 lab	4e2997ed08
17:39622142 KRT32 G>A	17	39622142	39622142	G	A	KRT32	c.591C>T	NM_002278.3	NP_002269.3:p.(Ala197=)	NC_000017.10:g.39622142G>A	(Likely) benign	1 lab	4e29a44523
2:31570431 XDH G>A	2	31570431	31570431	G	A	XDH	c.3233C>T	NM_000379.3	NP_000370.2:p.(Thr1078Met)	NC_000002.11:g.31570431G>A	VUS	1 lab	4e2b8fdc8b
10:123325129 FGFR2 C>T	10	123325129	123325129	C	T	FGFR2	c.199G>A	NM_000141.5	NP_000132.3:p.(Ala67Thr)	NC_000010.10:g.123325129C>T	VUS	1 lab	efd389d965
7:47944839 PKD1L1 G>A	7	47944839	47944839	G	A	PKD1L1	c.1606C>T	NM_138295.4	NP_612152.1:p.(Leu536=)	NC_000007.13:g.47944839G>A	(Likely) benign	1 lab	4e2f9a9d3f
1:228290912 C1orf35 C>A	1	228290912	228290912	C	A	C1orf35	c.17G>T	NM_024319.4	NP_077295.1:p.(Arg6Leu)	NC_000001.10:g.228290912C>A	VUS	1 lab	4e2fd52862
19:6495706 TUBB4A G>C	19	6495706	6495706	G	C	TUBB4A	c.588C>G	NM_001289130.1	NP_001276059.1:p.(Pro196=)	NC_000019.9:g.6495706G>C	(Likely) benign	1 lab	4e30e34d94
18:44087609 LOXHD1 G>A	18	44087609	44087609	G	A	LOXHD1	c.5398C>T	NM_144612.6	NP_653213.6:p.(Arg1800Trp)	NC_000018.9:g.44087609G>A	VUS	1 lab	4e311197cf
1:201915332 LMOD1 G>A	1	201915332	201915332	G	A	LMOD1	c.137C>T	NM_012134.3	NP_036266.2:p.(Pro46Leu)	NC_000001.10:g.201915332G>A	VUS	1 lab	4e315bdbab
4:79400826 FRAS1 G>A	4	79400826	79400826	G	A	FRAS1	c.8397G>A	NM_025074.7	NP_079350.5:p.(Ser2799=)	NC_000004.11:g.79400826G>A	(Likely) benign	1 lab	4e31e3b56d
4:1807380 FGFR3 C>T	4	1807380	1807380	C	T	FGFR3	c.1629C>T	NM_000142.4	NP_000133.1:p.(Gly543=)	NC_000004.11:g.1807380C>T	VUS	1 lab	4e34665a50
7:5568831 ACTB G>A	7	5568831	5568831	G	A	ACTB	c.324C>T	NM_001101.3	NP_001092.1:p.(Ala108=)	NC_000007.13:g.5568831G>A	(Likely) benign	1 lab	4e3495aa2e
14:23873556 MYH6 C>T	14	23873556	23873556	C	T	MYH6	c.684G>A	NM_002471.3	NP_002462.2:p.(Leu228=)	NC_000014.8:g.23873556C>T	(Likely) benign	1 lab	4e3591fb2a
1:57411642 C8B C>G	1	57411642	57411642	C	G	C8B	c.801G>C	NM_001278543.1	NP_001265472.1:p.(Gln267His)	NC_000001.10:g.57411642C>G	VUS	1 lab	4e36ae1351
15:89386721 ACAN G>A	15	89386721	89386721	G	A	ACAN	c.893G>A	NM_013227.3	NP_037359.3:p.(Ser298Asn)	NC_000015.9:g.89386721G>A	VUS	1 lab	4e3802dcb4
2:8873707 KIDINS220 C>T	2	8873707	8873707	C	T	KIDINS220	c.3863G>A	NM_001348738.1	NP_001335667.1:p.(Arg1288His)	NC_000002.11:g.8873707C>T	VUS	1 lab	4e3839a8a9
14:77493112 IRF2BPL G>A	14	77493112	77493112	G	A	IRF2BPL	c.1024C>T	NM_024496.4	NP_078772.1:p.(Arg342Cys)	NC_000014.8:g.77493112G>A	VUS	1 lab	efda4fb5b7
X:106844295 FRMPD3 T>C	X	106844295	106844295	T	C	FRMPD3	c.3125T>C	NM_032428.2	NP_115804.1:p.(Phe1042Ser)	NC_000023.10:g.106844295T>C	(Likely) benign	1 lab	4e39809c8d
16:89349372 ANKRD11 G>A	16	89349372	89349372	G	A	ANKRD11	c.3578C>T	NM_013275.6	NP_037407.4:p.(Ala1193Val)	NC_000016.9:g.89349372G>A	(Likely) benign	1 lab	efdb1cc2f4
X:53611206 HUWE1 C>T	X	53611206	53611206	C	T	HUWE1	c.5101G>A	NM_031407.6	NP_113584.3:p.(Glu1701Lys)	NC_000023.10:g.53611206C>T	VUS	1 lab	4e3a989449
19:50098683 PRR12 G>A	19	50098683	50098683	G	A	PRR12	c.1091G>A	NM_020719.3	NP_065770.1:p.(Gly364Asp)	NC_000019.9:g.50098683G>A	VUS	1 lab	efdc6b3c24
19:38994898 RYR1 C>T	19	38994898	38994898	C	T	RYR1	c.7965C>T	NM_000540.2	NP_000531.2:p.(Tyr2655=)	NC_000019.9:g.38994898C>T	(Likely) benign	1 lab	4e3b1cb8bc
2:166850715 SCN1A T>A	2	166850715	166850715	T	A	SCN1A	c.4793A>T	NM_001165963.2	NP_001159435.1:p.(Tyr1598Phe)	NC_000002.11:g.166850715T>A	VUS	1 lab	4e3b8423ee
3:148896276 CP A>T	3	148896276	148896276	A	T	CP	c.2804T>A	NM_000096.3	NP_000087.1:p.(Ile935Asn)	NC_000003.11:g.148896276A>T	VUS	1 lab	4e3c33f7ec
16:81348745 GAN C>T	16	81348745	81348745	C	T	GAN	c.27C>T	NM_022041.3	NP_071324.1:p.(Asp9=)	NC_000016.9:g.81348745C>T	(Likely) benign	1 lab	4e3c44a6d5
1:3334475 PRDM16 C>G	1	3334475	3334475	C	G	PRDM16	c.2775C>G	NM_022114.3	NP_071397.3:p.(Leu925=)	NC_000001.10:g.3334475C>G	(Likely) benign	1 lab	4e3d285bb6
8:17823679 PCM1 G>C	8	17823679	17823679	G	C	PCM1	c.3144G>C	NM_001352650.1	NP_001339579.1:p.(Gln1048His)	NC_000008.10:g.17823679G>C	VUS	1 lab	4e3f3861b9
9:2643182 VLDLR C>T	9	2643182	2643182	C	T	VLDLR	c.471C>T	NM_003383.4	NP_003374.3:p.(Asp157=)	NC_000009.11:g.2643182C>T	(Likely) benign	1 lab	4e3ff23f30
3:14197987 XPC A>T	3	14197987	14197987	A	T	XPC	c.1881T>A	NM_004628.5	NP_004619.3:p.(Ala627=)	NC_000003.11:g.14197987A>T	(Likely) benign	1 lab	efde9354e5
17:29550542 NF1 G>A	17	29550542	29550542	G	A	NF1	c.1802G>A	NM_000267.3	NP_000258.1:p.(Arg601Gln)	NC_000017.10:g.29550542G>A	VUS	1 lab	4e40cbb619
2:179592092 TTN G>C	2	179592092	179592092	G	C	TTN	c.20000C>G	NM_001267550.1	NP_001254479.1:p.(Pro6667Arg)	NC_000002.11:g.179592092G>C	VUS	1 lab	4e40dceb7c
6:24651072 TDP2 C>T	6	24651072	24651072	C	T	TDP2	c.1033G>A	NM_016614.2	NP_057698.2:p.(Gly345Ser)	NC_000006.11:g.24651072C>T	VUS	1 lab	4e414b2453
17:29490401 NF1 G>A	17	29490401	29490401	G	A	NF1	c.479+7G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29490401G>A	(Likely) benign	1 lab	5261d52f97
11:108201177 ATM C>G	11	108201177	108201177	C	G	ATM	c.7515+29C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108201177C>G	(Likely) benign	1 lab	4e41d6c21d
9:135797282 TSC1 G>A	9	135797282	135797282	G	A	TSC1	c.587C>T	NM_000368.4	NP_000359.1:p.(Pro196Leu)	NC_000009.11:g.135797282G>A	VUS	1 lab	4e421cb905
3:48602243 COL7A1 G>A	3	48602243	48602243	G	A	COL7A1	c.8791C>T	NM_000094.3	NP_000085.1:p.(Pro2931Ser)	NC_000003.11:g.48602243G>A	(Likely) benign	1 lab	4e44c1f29c
7:93518363 TFPI2 G>A	7	93518363	93518363	G	A	TFPI2	c.444C>T	NM_006528.3	NP_006519.1:p.(Phe148=)	NC_000007.13:g.93518363G>A	(Likely) benign	1 lab	4e472ccb6d
X:15333546 ASB11 C>T	X	15333546	15333546	C	T	ASB11	c.181+1G>A	NM_080873.2	NP_543149.1:p.?	NC_000023.10:g.15333546C>T	(Likely) benign	1 lab	4e487ec934
8:6266774 MCPH1 G>A	8	6266774	6266774	G	A	MCPH1	c.23-26G>A	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6266774G>A	(Likely) benign	1 lab	4e48d310e6
X:41402061 CASK T>C	X	41402061	41402061	T	C	CASK	c.2040-2A>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41402061T>C	(Likely) pathogenic	1 lab	efe18ed600
1:152287153 FLG T>G	1	152287153	152287153	T	G	FLG	c.209A>C	NM_002016.2	NP_002007.1:p.(Asp70Ala)	NC_000001.10:g.152287153T>G	VUS	1 lab	efe23fee2c
14:105409314 AHNAK2 C>A	14	105409314	105409314	C	A	AHNAK2	c.12474G>T	NM_138420.3	NP_612429.2:p.(Val4158=)	NC_000014.8:g.105409314C>A	(Likely) benign	1 lab	4e4b2b6c0d
19:56197004 EPN1 C>G	19	56197004	56197004	C	G	EPN1	c.804C>G	NM_001130071.1	NP_001123543.1:p.(Thr268=)	NC_000019.9:g.56197004C>G	(Likely) benign	1 lab	4e4b9fadc0
5:118844871 HSD17B4 A>T	5	118844871	118844871	A	T	HSD17B4	c.1369A>T	NM_000414.4	NP_000405.1:p.(Asn457Tyr)	NC_000005.9:g.118844871A>T	(Likely) pathogenic	1 lab	efe67e391d
16:3779217 CREBBP G>GC	16	3779217	3779219	G	GC	CREBBP	c.5830dup	NM_004380.3	NP_004371.2:p.(Ala1944GlyfsTer22)	NC_000016.9:g.3779219dup	(Likely) pathogenic	1 lab	efe6840cea
17:19318492 RNF112 C>T	17	19318492	19318492	C	T	RNF112	c.1268C>T	NM_007148.5	NP_009079.2:p.(Thr423Met)	NC_000017.10:g.19318492C>T	VUS	1 lab	4e5064332c
14:23876223 MYH6 C>T	14	23876223	23876223	C	T	MYH6	c.201+9G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23876223C>T	(Likely) benign	1 lab	5392b848a5
13:31233466 USPL1 C>T	13	31233466	31233466	C	T	USPL1	c.2709C>T	NM_001321532.1	NP_001308461.1:p.(Phe903=)	NC_000013.10:g.31233466C>T	(Likely) benign	1 lab	4e51b27472
2:198571489 MARS2 G>A	2	198571489	198571489	G	A	MARS2	c.1360G>A	NM_138395.3	NP_612404.1:p.(Ala454Thr)	NC_000002.11:g.198571489G>A	(Likely) benign	1 lab	4e5374962d
10:71005923 HKDC1 G>A	10	71005923	71005923	G	A	HKDC1	c.964G>A	NM_025130.3	NP_079406.3:p.(Gly322Ser)	NC_000010.10:g.71005923G>A	VUS	1 lab	4e5430d62a
21:45950976 TSPEAR C>T	21	45950976	45950976	C	T	TSPEAR	c.379G>A	NM_001272037.1	NP_001258966.1:p.(Gly127Arg)	NC_000021.8:g.45950976C>T	VUS	1 lab	4e543f10c9
5:36985358 NIPBL A>G	5	36985358	36985358	A	G	NIPBL	c.2076A>G	NM_015384.4	NP_056199.2:p.(Arg692=)	NC_000005.9:g.36985358A>G	(Likely) benign	1 lab	4e55a56bc0
1:169510019 F5 T>A	1	169510019	169510019	T	A	F5	c.4309A>T	NM_000130.4	NP_000121.2:p.(Thr1437Ser)	NC_000001.10:g.169510019T>A	(Likely) benign	1 lab	4e56d7ce7a
6:31324198 HLA-B A>G	6	31324198	31324198	A	G	HLA-B	c.365T>C	NM_005514.7	NP_005505.2:p.(Met122Thr)	NC_000006.11:g.31324198A>G	(Likely) benign	1 lab	4e572527f8
5:167946115 RARS1 A>T	5	167946115	167946115	A	T	RARS1	c.1903A>T	NM_002887.3	NP_002878.2:p.(Met635Leu)	NC_000005.9:g.167946115A>T	(Likely) benign	1 lab	4e576f91e0
12:132625407 DDX51 G>A	12	132625407	132625407	G	A	DDX51	c.1409C>T	NM_175066.4	NP_778236.2:p.(Ser470Leu)	NC_000012.11:g.132625407G>A	(Likely) benign	1 lab	4e58192866
8:141559301 AGO2 G>A	8	141559301	141559301	G	A	AGO2	c.1500C>T	NM_012154.5	NP_036286.2:p.(Ser500=)	NC_000008.10:g.141559301G>A	(Likely) benign	1 lab	4e58d0dfd9
16:89345863 ANKRD11 G>C	16	89345863	89345863	G	C	ANKRD11	c.7087C>G	NM_001256182.1	NP_001243111.1:p.(Pro2363Ala)	NC_000016.9:g.89345863G>C	VUS	1 lab	4e5a9d0d21
1:16460027 EPHA2 T>C	1	16460027	16460027	T	C	EPHA2	c.1813A>G	NM_004431.4	NP_004422.2:p.(Thr605Ala)	NC_000001.10:g.16460027T>C	(Likely) benign	1 lab	4e5bdeecd3
2:173362720 ITGA6 T>C	2	173362720	173362720	T	C	ITGA6	c.3006T>C	NM_000210.3	NP_000201.2:p.(Phe1002=)	NC_000002.11:g.173362720T>C	(Likely) benign	1 lab	4e5c161fc8
8:22021501 SFTPC C>G	8	22021501	22021501	C	G	SFTPC	c.541C>G	NM_003018.3	NP_003009.2:p.(Leu181Val)	NC_000008.10:g.22021501C>G	VUS	1 lab	4e5e632593
18:56054725 NEDD4L C>T	18	56054725	56054725	C	T	NEDD4L	c.2179C>T	NM_001144964.1	NP_001138436.1:p.(Leu727=)	NC_000018.9:g.56054725C>T	(Likely) benign	1 lab	4e604ac6de
11:694961 DEAF1 GGCCGCCGCCGCCACAGCGGCCGCGGCC>G	11	694961	694991	GGCCGCCGCCGCCACAGCGGCCGCGGCC	G	DEAF1	c.60_86del	NM_021008.4	NP_066288.2:p.(Val25_Ala33del)	NC_000011.9:g.694965_694991del	VUS	1 lab	efea36d6a3
5:82833288 VCAN C>T	5	82833288	82833288	C	T	VCAN	c.4466C>T	NM_004385.4	NP_004376.2:p.(Thr1489Ile)	NC_000005.9:g.82833288C>T	VUS	1 lab	4e638d5997
8:41790917 KAT6A C>G	8	41790917	41790917	C	G	KAT6A	c.4821G>C	NM_006766.4	NP_006757.2:p.(Gln1607His)	NC_000008.10:g.41790917C>G	VUS	1 lab	4e64d1d5b6
X:48834850 GRIPAP1 G>C	X	48834850	48834850	G	C	GRIPAP1	c.1931-3C>G	NM_020137.4	NP_064522.3:p.?	NC_000023.10:g.48834850G>C	VUS	1 lab	4e65dce599
18:43526693 EPG5 C>T	18	43526693	43526693	C	T	EPG5	c.1613G>A	NM_020964.3	NP_066015.2:p.(Arg538Gln)	NC_000018.9:g.43526693C>T	(Likely) benign	1 lab	4e66c90bd6
16:2137954 TSC2 T>TG	16	2137954	2137958	T	TG	TSC2	c.5068+16dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137958dup	(Likely) benign	1 lab	4e67fa9a03
14:89307231 TTC8 C>G	14	89307231	89307231	C	G	TTC8	c.258C>G	NM_001288781.1	NP_001275710.1:p.(Leu86=)	NC_000014.8:g.89307231C>G	(Likely) benign	1 lab	4e688f5945
2:234669505 UGT1A1 C>T	2	234669505	234669505	C	T	UGT1A1	c.572C>T	NM_000463.2	NP_000454.1:p.(Ser191Phe)	NC_000002.11:g.234669505C>T	VUS	1 lab	4e6b47ef44
2:20174308 WDR35 G>A	2	20174308	20174308	G	A	WDR35	c.657C>T	NM_001006657.1	NP_001006658.1:p.(Tyr219=)	NC_000002.11:g.20174308G>A	(Likely) benign	1 lab	4e6b8e9de7
11:68213926 LRP5 C>T	11	68213926	68213926	C	T	LRP5	c.2768C>T	NM_001291902.1	NP_001278831.1:p.(Pro923Leu)	NC_000011.9:g.68213926C>T	(Likely) benign	1 lab	4e6bb4a8a2
11:78369646 TENM4 C>T	11	78369646	78369646	C	T	TENM4	c.7767G>A	NM_001098816.2	NP_001092286.2:p.(Glu2589=)	NC_000011.9:g.78369646C>T	(Likely) benign	1 lab	4e6c3e9d99
1:237789062 RYR2 A>C	1	237789062	237789062	A	C	RYR2	c.6124A>C	NM_001035.3	NP_001026.2:p.(Lys2042Gln)	NC_000001.10:g.237789062A>C	VUS	1 lab	efebdaa0c4
19:32844271 ZNF507 GACAATGATGCCAATATCCAC>G	19	32844271	32844293	GACAATGATGCCAATATCCAC	G	ZNF507	c.538_557del	NM_001136156.2	NP_001129628.1:p.(Asn180ProfsTer23)	NC_000019.9:g.32844274_32844293del	VUS	1 lab	4e6e0f1e5a
15:23086337 NIPA1 G>A	15	23086337	23086337	G	A	NIPA1	c.75C>T	NM_144599.4	NP_653200.2:p.(Pro25=)	NC_000015.9:g.23086337G>A	(Likely) benign	1 lab	4e6e8588c3
2:29297025 PCARE C>T	2	29297025	29297025	C	T	PCARE	c.103G>A	NM_001029883.2	NP_001025054.1:p.(Gly35Arg)	NC_000002.11:g.29297025C>T	VUS	1 lab	4e6ec6d8ec
7:35280519 TBX20 G>A	7	35280519	35280519	G	A	TBX20	c.785C>T	NM_001077653.2	NP_001071121.1:p.(Thr262Met)	NC_000007.13:g.35280519G>A	VUS	1 lab	4e70707452
X:153130652 L1CAM G>A	X	153130652	153130652	G	A	L1CAM	c.2763C>T	NM_001278116.1	NP_001265045.1:p.(Pro921=)	NC_000023.10:g.153130652G>A	(Likely) benign	1 lab	4e716be296
13:32912811 BRCA2 AAG>A	13	32912811	32912815	AAG	A	BRCA2	c.4322_4323del	NM_000059.4	NP_000050.3:p.(Glu1441ValfsTer3)	NC_000013.10:g.32912814_32912815del	(Likely) pathogenic	1 lab	efed2b5da8
10:135368906 SYCE1 G>T	10	135368906	135368906	G	T	SYCE1	c.867C>A	NM_001143763.1	NP_001137235.1:p.(Val289=)	NC_000010.10:g.135368906G>T	VUS	1 lab	4e71ccb66a
10:123903164 TACC2 G>A	10	123903164	123903164	G	A	TACC2	c.5777G>A	NM_206862.3	NP_996744.3:p.(Gly1926Asp)	NC_000010.10:g.123903164G>A	(Likely) benign	1 lab	4e721edf58
7:128829272 SMO G>A	7	128829272	128829272	G	A	SMO	c.280G>A	NM_005631.4	NP_005622.1:p.(Gly94Arg)	NC_000007.13:g.128829272G>A	VUS	1 lab	4e72635a73
2:15448413 NBAS G>A	2	15448413	15448413	G	A	NBAS	c.4724C>T	NM_015909.4	NP_056993.2:p.(Ala1575Val)	NC_000002.11:g.15448413G>A	VUS	1 lab	efedbc7095
12:133313570 ANKLE2 G>A	12	133313570	133313570	G	A	ANKLE2	c.1502C>T	NM_015114.2	NP_055929.1:p.(Ala501Val)	NC_000012.11:g.133313570G>A	(Likely) benign	1 lab	4e742f1329
18:56203411 ALPK2 G>C	18	56203411	56203411	G	C	ALPK2	c.4008C>G	NM_052947.4	NP_443179.3:p.(Pro1336=)	NC_000018.9:g.56203411G>C	(Likely) benign	1 lab	4e754968be
2:179463585 TTN G>T	2	179463585	179463585	G	T	TTN	c.56852C>A	NM_001267550.2	NP_001254479.2:p.(Thr18951Asn)	NC_000002.11:g.179463585G>T	VUS	1 lab	eff0fb3ae1
3:58108922 FLNB G>GT	3	58108922	58108923	G	GT	FLNB	c.3230dup	NM_001164317.1	NP_001157789.1:p.(Glu1078GlyfsTer15)	NC_000003.11:g.58108923dup	VUS	1 lab	4e7673ab8f
5:90021462 ADGRV1 G>A	5	90021462	90021462	G	A	ADGRV1	c.10150G>A	NM_032119.4	NP_115495.3:p.(Glu3384Lys)	NC_000005.9:g.90021462G>A	(Likely) benign	1 lab	4e76752fc7
19:41076524 SPTBN4 C>G	19	41076524	41076524	C	G	SPTBN4	c.7209C>G	NM_020971.2	NP_066022.2:p.(Ala2403=)	NC_000019.9:g.41076524C>G	(Likely) benign	1 lab	4e843dd60b
1:152280672 FLG T>A	1	152280672	152280672	T	A	FLG	c.6690A>T	NM_002016.1	NP_002007.1:p.(Ser2230=)	NC_000001.10:g.152280672T>A	(Likely) benign	1 lab	4e7ab671fd
11:6643349 DCHS1 G>C	11	6643349	6643349	G	C	DCHS1				NC_000011.9:g.6643349G>C	(Likely) benign	1 lab	4e7ad8e009
X:11197467 ARHGAP6 G>A	X	11197467	11197467	G	A	ARHGAP6	c.1435C>T	NM_013427.2	NP_038286.2:p.(Pro479Ser)	NC_000023.10:g.11197467G>A	VUS	1 lab	4e7b8cefe4
20:15967803 MACROD2 G>A	20	15967803	15967803	G	A	MACROD2	c.1153G>A	NM_001351661.1	NP_001338590.1:p.(Ala385Thr)	NC_000020.10:g.15967803G>A	VUS	1 lab	4e7d51066b
17:41219714 BRCA1 T>C	17	41219714	41219714	T	C	BRCA1	c.4987-2A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219714T>C	(Likely) pathogenic	1 lab	4e7e85cba6
3:10430011 ATP2B2 A>C	3	10430011	10430011	A	C	ATP2B2	c.857T>G	NM_001330611.2	NP_001317540.1:p.(Phe286Cys)	NC_000003.11:g.10430011A>C	VUS	1 lab	4e8181fec7
X:153278626 IRAK1 G>A	X	153278626	153278626	G	A	IRAK1	c.1798C>T	NM_001569.3	NP_001560.2:p.(Arg600Cys)	NC_000023.10:g.153278626G>A	(Likely) benign	1 lab	4e83279a1d
22:25627693 CRYBB2 G>A	22	25627693	25627693	G	A	CRYBB2	c.572G>A	NM_000496.2	NP_000487.1:p.(Arg191His)	NC_000022.10:g.25627693G>A	VUS	1 lab	4e87a17912
16:88497332 ZNF469 C>A	16	88497332	88497332	C	A	ZNF469				NC_000016.9:g.88497332C>A	(Likely) benign	1 lab	4e8857e4ec
17:29677227 NF1 C>T	17	29677227	29677227	C	T	NF1	c.7285C>T	NM_000267.3	NP_000258.1:p.(Arg2429Ter)	NC_000017.10:g.29677227C>T	(Likely) pathogenic	1 lab	4e897e1e21
16:72144867 DHX38 C>T	16	72144867	72144867	C	T	DHX38	c.3490C>T	NM_014003.3	NP_054722.2:p.(Arg1164Trp)	NC_000016.9:g.72144867C>T	VUS	1 lab	4e89a3171a
22:18910756 PRODH C>G	22	18910756	18910756	C	G	PRODH	c.668-64G>C	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18910756C>G	(Likely) benign	1 lab	eff11e6f33
15:90196012 KIF7 G>A	15	90196012	90196012	G	A	KIF7	c.150C>T	NM_198525.2	NP_940927.2:p.(Gly50=)	NC_000015.9:g.90196012G>A	(Likely) benign	1 lab	4e8b2bd74b
2:179644006 TTN C>A	2	179644006	179644006	C	A	TTN	c.3913G>T	NM_001267550.1	NP_001254479.1:p.(Gly1305Trp)	NC_000002.11:g.179644006C>A	VUS	1 lab	4e8b44ff43
20:3210277 SLC4A11 C>T	20	3210277	3210277	C	T	SLC4A11	c.1764G>A	NM_001174090.1	NP_001167561.1:p.(Thr588=)	NC_000020.10:g.3210277C>T	(Likely) benign	1 lab	4e9183e0e2
20:35579945 SAMHD1 C>T	20	35579945	35579945	C	T	SAMHD1	c.102G>A	NM_015474.3	NP_056289.2:p.(Pro34=)	NC_000020.10:g.35579945C>T	(Likely) benign	1 lab	4e945b10c0
17:29652981 NF1 C>CT	17	29652981	29652982	C	CT	NF1	c.4917dup	NM_000267.3	NP_000258.1:p.(Lys1640Ter)	NC_000017.10:g.29652982dup	(Likely) pathogenic	1 lab	4e95bbe3f9
6:80816420 BCKDHB G>A	6	80816420	80816420	G	A	BCKDHB	c.10G>A	NM_183050.4	NP_898871.1:p.(Val4Ile)	NC_000006.11:g.80816420G>A	(Likely) benign	1 lab	4e974237c0
4:652753 PDE6B C>T	4	652753	652753	C	T	PDE6B	c.1414C>T	NM_000283.3	NP_000274.2:p.(Arg472Cys)	NC_000004.11:g.652753C>T	(Likely) benign	1 lab	4e97d01f91
1:216073540 USH2A C>T	1	216073540	216073540	C	T	USH2A	c.7471G>A	NM_206933.2	NP_996816.2:p.(Ala2491Thr)	NC_000001.10:g.216073540C>T	VUS	1 lab	4e9894563d
1:162824957 CCDC190 T>C	1	162824957	162824957	T	C	CCDC190	c.507A>G	NM_178550.4	NP_848645.3:p.(Val169=)	NC_000001.10:g.162824957T>C	(Likely) benign	1 lab	4e98b036bf
3:160095319 IFT80 T>C	3	160095319	160095319	T	C	IFT80	c.269A>G	NM_020800.2	NP_065851.1:p.(His90Arg)	NC_000003.11:g.160095319T>C	VUS	1 lab	4e99257df3
11:68177498 LRP5 C>T	11	68177498	68177498	C	T	LRP5	c.465C>T	NM_001291902.1	NP_001278831.1:p.(Asp155=)	NC_000011.9:g.68177498C>T	(Likely) benign	1 lab	4e9a85d7b9
17:48624592 SPATA20 T>C	17	48624592	48624592	T	C	SPATA20	c.23T>C	NM_022827.4	NP_073738.2:p.(Leu8Ser)	NC_000017.10:g.48624592T>C	(Likely) benign	1 lab	4e9ad35382
21:47556895 FTCD G>A	21	47556895	47556895	G	A	FTCD	c.1612C>T	NM_001320412.1	NP_001307341.1:p.(Arg538Trp)	NC_000021.8:g.47556895G>A	VUS	1 lab	4e9bab28f8
1:183086486 LAMC1 T>G	1	183086486	183086486	T	G	LAMC1	c.1596T>G	NM_002293.3	NP_002284.3:p.(Asp532Glu)	NC_000001.10:g.183086486T>G	(Likely) benign	1 lab	4ea0b0505b
17:74729111 METTL23 G>C	17	74729111	74729111	G	C	METTL23	c.136G>C	NM_001206983.2	NP_001193912.1:p.(Glu46Gln)	NC_000017.10:g.74729111G>C	(Likely) benign	1 lab	4ea15076f1
3:9934898 JAGN1 A>G	3	9934898	9934898	A	G	JAGN1	c.389A>G	NM_032492.4	NP_115881.3:p.(Tyr130Cys)	NC_000003.11:g.9934898A>G	VUS	1 lab	4ea15791de
5:89925049 ADGRV1 G>A	5	89925049	89925049	G	A	ADGRV1	c.1532G>A	NM_032119.4	NP_115495.3:p.(Ser511Asn)	NC_000005.9:g.89925049G>A	VUS	1 lab	4ea26335ab
10:121435974 BAG3 A>G	10	121435974	121435974	A	G	BAG3	c.910-2A>G	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121435974A>G	VUS	1 lab	4ea32fd3e4
19:10273413 DNMT1 C>T	19	10273413	10273413	C	T	DNMT1	c.938G>A	NM_001130823.1	NP_001124295.1:p.(Arg313Gln)	NC_000019.9:g.10273413C>T	VUS	1 lab	4ea53a86ed
14:81943328 SEL1L C>G	14	81943328	81943328	C	G	SEL1L	c.2373G>C	NM_005065.5	NP_005056.3:p.(Gln791His)	NC_000014.8:g.81943328C>G	(Likely) benign	1 lab	4ea67d4ba2
1:198687304 PTPRC G>A	1	198687304	198687304	G	A	PTPRC	c.1532G>A	NM_002838.4	NP_002829.3:p.(Arg511His)	NC_000001.10:g.198687304G>A	(Likely) benign	1 lab	4ea6efe8f7
X:66941680 AR G>T	X	66941680	66941680	G	T	AR	c.2324G>T	NM_000044.4	NP_000035.2:p.(Arg775Leu)	NC_000023.10:g.66941680G>T	(Likely) pathogenic	1 lab	4ea6f45bc7
11:4104619 STIM1 C>T	11	4104619	4104619	C	T	STIM1	c.1365C>T	NM_001277961.1	NP_001264890.1:p.(Asn455=)	NC_000011.9:g.4104619C>T	(Likely) benign	1 lab	4ea74543db
3:154859869 MME A>G	3	154859869	154859869	A	G	MME	c.1047A>G	NM_007289.3	NP_009220.2:p.(Pro349=)	NC_000003.11:g.154859869A>G	(Likely) benign	1 lab	4ea7db5dcf
X:99551307 PCDH19 C>T	X	99551307	99551307	C	T	PCDH19	c.3415G>A	NM_001184880.1	NP_001171809.1:p.(Gly1139Ser)	NC_000023.10:g.99551307C>T	(Likely) benign	1 lab	4ea872b7b5
22:37524775 IL2RB C>A	22	37524775	37524775	C	A	IL2RB	c.1017G>T	NM_001346222.1	NP_001333151.1:p.(Gln339His)	NC_000022.10:g.37524775C>A	VUS	1 lab	4ea8aee7b8
14:55369086 GCH1 GC>G	14	55369086	55369088	GC	G	GCH1	c.295del	NM_000161.3	NP_000152.1:p.(Ala99ProfsTer19)	NC_000014.8:g.55369088del	(Likely) pathogenic	1 lab	eff3a0bd31
15:57555475 TCF12 A>G	15	57555475	57555475	A	G	TCF12	c.1745+3A>G	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57555475A>G	VUS	1 lab	4eacb846a9
14:74970271 LTBP2 C>T	14	74970271	74970271	C	T	LTBP2	c.4621G>A	NM_000428.2	NP_000419.1:p.(Glu1541Lys)	NC_000014.8:g.74970271C>T	VUS	1 lab	4ead315049
X:49111894 FOXP3 G>A	X	49111894	49111894	G	A	FOXP3	c.812C>T	NM_014009.4	NP_054728.2:p.(Ser271Phe)	NC_000023.10:g.49111894G>A	VUS	1 lab	eff65a1bcd
1:156106001 LMNA C>A	1	156106001	156106001	C	A	LMNA				NC_000001.10:g.156106001C>A	(Likely) benign	1 lab	4eb1a36e9b
1:54610154 CDCP2 C>T	1	54610154	54610154	C	T	CDCP2	c.412G>A	NM_201546.4	NP_963840.2:p.(Ala138Thr)	NC_000001.10:g.54610154C>T	VUS	1 lab	4ebbba2a8a
13:28608241 FLT3 A>G	13	28608241	28608241	A	G	FLT3	c.1815T>C	NM_004119.2	NP_004110.2:p.(Phe605=)	NC_000013.10:g.28608241A>G	(Likely) benign	1 lab	4ebc3d060c
5:77590296 AP3B1 G>A	5	77590296	77590296	G	A	AP3B1	c.108C>T	NM_003664.4	NP_003655.3:p.(Leu36=)	NC_000005.9:g.77590296G>A	(Likely) benign	1 lab	4ebd506d69
11:76919518 MYO7A G>A	11	76919518	76919518	G	A	MYO7A	c.5900G>A	NM_000260.3	NP_000251.3:p.(Arg1967Gln)	NC_000011.9:g.76919518G>A	VUS	1 lab	4ebd68c608
12:44167807 IRAK4 G>A	12	44167807	44167807	G	A	IRAK4	c.319G>A	NM_001351338.1	NP_001338267.1:p.(Asp107Asn)	NC_000012.11:g.44167807G>A	(Likely) benign	1 lab	4ebe53e76d
16:1621518 IFT140 GA>TT	16	1621518	1621519	GA	TT	IFT140	c.1541_1542delinsAA	NM_014714.3	NP_055529.2:p.(Leu514Gln)	NC_000016.9:g.1621518_1621519delinsTT	VUS	1 lab	4ec0fbeaa4
16:50187677 TENT4B G>C	16	50187677	50187677	G	C	TENT4B	c.100G>C	NM_001040284.2	NP_001035374.2:p.(Gly34Arg)	NC_000016.9:g.50187677G>C	(Likely) benign	1 lab	4ec2263250
5:13714715 DNAH5 A>G	5	13714715	13714715	A	G	DNAH5	c.12924T>C	NM_001369.2	NP_001360.1:p.(Tyr4308=)	NC_000005.9:g.13714715A>G	(Likely) benign	1 lab	4ec3fcd78e
5:150947040 FAT2 G>A	5	150947040	150947040	G	A	FAT2	c.1453C>T	NM_001447.2	NP_001438.1:p.(Arg485Trp)	NC_000005.9:g.150947040G>A	(Likely) benign	1 lab	4ec543abe5
X:153128943 L1CAM G>A	X	153128943	153128943	G	A	L1CAM	c.3519C>T	NM_001278116.1	NP_001265045.1:p.(Phe1173=)	NC_000023.10:g.153128943G>A	(Likely) benign	1 lab	4ec5836336
4:109817845 COL25A1 G>A	4	109817845	109817845	G	A	COL25A1	c.884C>T	NM_198721.3	NP_942014.1:p.(Pro295Leu)	NC_000004.11:g.109817845G>A	VUS	1 lab	4ec5b84285
X:140967007 MAGEC3 T>C	X	140967007	140967007	T	C	MAGEC3	c.305T>C	NM_138702.1	NP_619647.1:p.(Leu102Ser)	NC_000023.10:g.140967007T>C	(Likely) benign	1 lab	4ec7ee584b
15:34634020 NOP10 C>T	15	34634020	34634020	C	T	NOP10	c.*149G>A	NM_018648.3	NP_061118.1:p.?	NC_000015.9:g.34634020C>T	(Likely) benign	1 lab	4ec850ff4b
19:2112916 AP3D1 G>A	19	2112916	2112916	G	A	AP3D1	c.2730C>T	NM_001261826.3	NP_001248755.1:p.(Asp910=)	NC_000019.9:g.2112916G>A	(Likely) benign	1 lab	4eca003263
12:124158176 TCTN2 G>C	12	124158176	124158176	G	C	TCTN2	c.282G>C	NM_024809.4	NP_079085.2:p.(Val94=)	NC_000012.11:g.124158176G>C	(Likely) benign	1 lab	4eca076c14
6:138197299 TNFAIP3 G>T	6	138197299	138197299	G	T	TNFAIP3	c.801G>T	NM_001270508.2	NP_001257437.1:p.(Gly267=)	NC_000006.11:g.138197299G>T	(Likely) benign	1 lab	4eca6160a0
16:2147394 PKD1 TGGCCCGCCTGG>T	16	2147394	2147405	TGGCCCGCCTGG	T	PKD1	c.10320_10330del	NM_001009944.3	NP_001009944.3:p.(Gln3441TrpfsTer26)	NC_000016.9:g.2147395_2147405del	VUS	1 lab	4ecc8a0a93
19:11616546 ZNF653 C>T	19	11616546	11616546	C	T	ZNF653	c.56G>A	NM_138783.4	NP_620138.2:p.(Gly19Asp)	NC_000019.9:g.11616546C>T	(Likely) benign	1 lab	4ed1218587
4:183603091 TENM3 C>T	4	183603091	183603091	C	T	TENM3	c.1959C>T	NM_001080477.3	NP_001073946.1:p.(Ser653=)	NC_000004.11:g.183603091C>T	(Likely) benign	1 lab	4ed1e01038
3:48507872 ATRIP C>T	3	48507872	48507872	C	T	ATRIP	c.*919C>T	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507872C>T	(Likely) benign	1 lab	4ed37d1b54
2:179499122 TTN T>G	2	179499122	179499122	T	G	TTN	c.42386A>C	NM_001267550.1	NP_001254479.1:p.(Lys14129Thr)	NC_000002.11:g.179499122T>G	VUS	1 lab	4ed3fddbd3
15:67457485 SMAD3 G>GC	15	67457485	67457486	G	GC	SMAD3	c.400+59_400+60insC	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457485_67457486insC	(Likely) benign	1 lab	4ed9143072
3:43074004 GASK1A G>A	3	43074004	43074004	G	A	GASK1A	c.249G>A	NM_001129908.3	NP_001123380.2:p.(Leu83=)	NC_000003.11:g.43074004G>A	(Likely) benign	1 lab	4ed9eb9d30
6:43638636 RSPH9 G>A	6	43638636	43638636	G	A	RSPH9	c.833G>A	NM_001193341.1	NP_001180270.1:p.(Arg278His)	NC_000006.11:g.43638636G>A	(Likely) benign	1 lab	4eda100669
16:70917931 HYDIN C>T	16	70917931	70917931	C	T	HYDIN	c.9871G>A	NM_001270974.2	NP_001257903.1:p.(Ala3291Thr)	NC_000016.9:g.70917931C>T	(Likely) benign	1 lab	4edc4358ee
7:151944981 KMT2C C>A	7	151944981	151944981	C	A	KMT2C	c.2532+6G>T	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151944981C>A	(Likely) benign	1 lab	4edd8067b8
1:228403446 OBSCN C>T	1	228403446	228403446	C	T	OBSCN	c.2011C>T	NM_001271223.2	NP_001258152.2:p.(Arg671Trp)	NC_000001.10:g.228403446C>T	VUS	1 lab	4ee0a3e57b
17:56292094 MKS1 G>A	17	56292094	56292094	G	A	MKS1	c.515+8C>T	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56292094G>A	(Likely) benign	1 lab	4ee0ba9369
X:152089287 ZNF185 G>A	X	152089287	152089287	G	A	ZNF185	c.648G>A	NM_001178106.1	NP_001171577.1:p.(Ala216=)	NC_000023.10:g.152089287G>A	(Likely) benign	1 lab	4ee1b571a4
8:144992439 PLEC G>A	8	144992439	144992439	G	A	PLEC	c.11961C>T	NM_201380.3	NP_958782.1:p.(Ser3987=)	NC_000008.10:g.144992439G>A	(Likely) benign	1 lab	4ee350801c
10:69935087 MYPN C>A	10	69935087	69935087	C	A	MYPN	c.1690C>A	NM_001256268.1	NP_001243197.1:p.(Gln564Lys)	NC_000010.10:g.69935087C>A	(Likely) benign	1 lab	4ee40d2a30
11:1263296 MUC5B C>T	11	1263296	1263296	C	T	MUC5B	c.5186C>T	NM_002458.2	NP_002449.2:p.(Pro1729Leu)	NC_000011.9:g.1263296C>T	(Likely) benign	1 lab	4ee6ebe801
10:101715508 DNMBP G>A	10	101715508	101715508	G	A	DNMBP	c.1723C>T	NM_015221.4	NP_056036.1:p.(Arg575Cys)	NC_000010.10:g.101715508G>A	VUS	1 lab	4eeab90dde
15:25602006 UBE3A CCAAAA>C	15	25602006	25602014	CCAAAA	C	UBE3A	c.1786_1790del	NM_130839.5	NP_570854.1:p.(Phe596ValfsTer2)	NC_000015.9:g.25602010_25602014del	(Likely) pathogenic	1 lab	4eeb44c51f
3:180397167 CCDC39 A>G	3	180397167	180397167	A	G	CCDC39	c.2T>C	NM_181426.2	NP_852091.1:p.(Met1?)	NC_000003.11:g.180397167A>G	VUS	1 lab	4eef3ad102
2:26702223 OTOF C>T	2	26702223	26702223	C	T	OTOF	c.2123G>A	NM_194248.2	NP_919224.1:p.(Arg708Gln)	NC_000002.11:g.26702223C>T	VUS	1 lab	4eef629d66
1:27094350 ARID1A A>AG	1	27094350	27094352	A	AG	ARID1A	c.3060dup	NM_006015.4	NP_006006.3:p.(Lys1021GlufsTer12)	NC_000001.10:g.27094352dup	(Likely) pathogenic	1 lab	4ef2344463
1:181684517 MISSING C>A	1	181684517	181684517	C	A	MISSING				NC_000001.10:g.181684517C>A	(Likely) benign	1 lab	4ef3119f34
14:23887616 MYH7 C>CT	14	23887616	23887617	C	CT	MYH7	c.3973-2dup	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23887617dup	VUS	1 lab	4ef383b0da
10:112572067 RBM20 C>A	10	112572067	112572067	C	A	RBM20	c.1912C>A	NM_001134363.1	NP_001127835.1:p.(Pro638Thr)	NC_000010.10:g.112572067C>A	VUS	1 lab	4ef4062865
16:30671012 FBRS C>T	16	30671012	30671012	C	T	FBRS	c.173C>T	NM_001105079.3	NP_001098549.2:p.(Ser58Leu)	NC_000016.9:g.30671012C>T	VUS	1 lab	4ef4820a2d
11:76924005 MYO7A G>A	11	76924005	76924005	G	A	MYO7A	c.6363G>A	NM_000260.3	NP_000251.3:p.(Thr2121=)	NC_000011.9:g.76924005G>A	(Likely) benign	1 lab	4ef73179ec
11:65307303 LTBP3 G>A	11	65307303	65307303	G	A	LTBP3	c.3435C>T	NM_001130144.2	NP_001123616.1:p.(Asp1145=)	NC_000011.9:g.65307303G>A	(Likely) benign	1 lab	4eff1006c1
X:19364667 PDHA1 T>A	X	19364667	19364667	T	A	PDHA1	c.97T>A	NM_001173454.1	NP_001166925.1:p.(Ser33Thr)	NC_000023.10:g.19364667T>A	(Likely) benign	1 lab	4effeadd3f
1:169510246 F5 G>A	1	169510246	169510246	G	A	F5	c.4082C>T	NM_000130.4	NP_000121.2:p.(Pro1361Leu)	NC_000001.10:g.169510246G>A	(Likely) benign	1 lab	4f0092ad83
7:138603714 KIAA1549 C>G	7	138603714	138603714	C	G	KIAA1549	c.658G>C	NM_001164665.1	NP_001158137.1:p.(Ala220Pro)	NC_000007.13:g.138603714C>G	(Likely) benign	1 lab	4f02f90a06
17:29559839 NF1 G>T	17	29559839	29559839	G	T	NF1	c.3436G>T	NM_000267.3	NP_000258.1:p.(Val1146Phe)	NC_000017.10:g.29559839G>T	(Likely) pathogenic	1 lab	4f03fa1284
5:149499081 PDGFRB G>A	5	149499081	149499081	G	A	PDGFRB	c.2264C>T	NM_001355017.1	NP_001341946.1:p.(Ala755Val)	NC_000005.9:g.149499081G>A	VUS	1 lab	4f060f28a6
14:58920168 KIAA0586 A>G	14	58920168	58920168	A	G	KIAA0586	c.1230A>G	NM_001329944.1	NP_001316873.1:p.(Gly410=)	NC_000014.8:g.58920168A>G	(Likely) benign	1 lab	4f06230586
X:57936287 ZXDA C>G	X	57936287	57936287	C	G	ZXDA	c.568G>C	NM_007156.4	NP_009087.1:p.(Ala190Pro)	NC_000023.10:g.57936287C>G	(Likely) benign	1 lab	4f073f07b1
15:38643574 SPRED1 TAGGGGAAAATGTC>T	15	38643574	38643590	TAGGGGAAAATGTC	T	SPRED1	c.1048_1060del	NM_152594.3	NP_689807.1:p.(Gly350MetfsTer52)	NC_000015.9:g.38643578_38643590del	(Likely) pathogenic	1 lab	4f08ed16e4
15:23892196 MAGEL2 G>A	15	23892196	23892196	G	A	MAGEL2	c.694C>T	NM_019066.4	NP_061939.3:p.(Pro232Ser)	NC_000015.9:g.23892196G>A	VUS	1 lab	4f09e9da46
1:13718441 PRAMEF17 C>G	1	13718441	13718441	C	G	PRAMEF17	c.904C>G	NM_001099851.3	NP_001093321.1:p.(His302Asp)	NC_000001.10:g.13718441C>G	(Likely) benign	1 lab	4f0aa7a992
22:50682590 TUBGCP6 G>C	22	50682590	50682590	G	C	TUBGCP6	c.299C>G	NM_020461.3	NP_065194.2:p.(Pro100Arg)	NC_000022.10:g.50682590G>C	VUS	1 lab	4f0bb2b34a
19:12917902 RNASEH2A G>C	19	12917902	12917902	G	C	RNASEH2A	c.199+9G>C	NM_006397.2	NP_006388.2:p.?	NC_000019.9:g.12917902G>C	(Likely) benign	1 lab	4f0c38e1e1
2:48027067 MSH6 G>GA	2	48027067	48027068	G	GA	MSH6	c.1946dup	NM_000179.2	NP_000170.1:p.(Asp649GlufsTer12)	NC_000002.11:g.48027068dup	(Likely) pathogenic	1 lab	4f0c3efcfa
1:1431178 ATAD3B C>T	1	1431178	1431178	C	T	ATAD3B	c.1790C>T	NM_001317238.1	NP_001304167.1:p.(Pro597Leu)	NC_000001.10:g.1431178C>T	(Likely) benign	1 lab	4f0e053c49
1:12337448 VPS13D A>C	1	12337448	12337448	A	C	VPS13D	c.3803A>C	NM_015378.4	NP_056193.2:p.(Glu1268Ala)	NC_000001.10:g.12337448A>C	VUS	1 lab	4f100cd978
10:17151662 CUBN T>C	10	17151662	17151662	T	C	CUBN	c.1088A>G	NM_001081.3	NP_001072.2:p.(Asp363Gly)	NC_000010.10:g.17151662T>C	VUS	1 lab	4f10a86273
8:145584525 SLC52A2 G>A	8	145584525	145584525	G	A	SLC52A2	c.1188G>A	NM_001363118.1	NP_001350047.1:p.(Leu396=)	NC_000008.10:g.145584525G>A	(Likely) benign	1 lab	4f10c5cd4c
X:153770489 IKBKG T>C	X	153770489	153770489	T	C	IKBKG	c.11T>C	NM_001099856.4	NP_001093326.2:p.(Val4Ala)	NC_000023.10:g.153770489T>C	VUS	1 lab	4f10dcf817
20:60499443 CDH4 C>T	20	60499443	60499443	C	T	CDH4	c.1680C>T	NM_001794.5	NP_001785.2:p.(Asn560=)	NC_000020.10:g.60499443C>T	(Likely) benign	1 lab	4f11c1402d
2:152474824 NEB C>T	2	152474824	152474824	C	T	NEB	c.11041G>A	NM_001271208.1	NP_001258137.1:p.(Val3681Met)	NC_000002.11:g.152474824C>T	VUS	1 lab	4f11c9c838
X:153033344 PLXNB3 G>A	X	153033344	153033344	G	A	PLXNB3	c.1131G>A	NM_001163257.1	NP_001156729.1:p.(Thr377=)	NC_000023.10:g.153033344G>A	(Likely) benign	1 lab	4f12cfb266
X:64887709 MSN A>C	X	64887709	64887709	A	C	MSN	c.1A>C	NM_002444.2	NP_002435.1:p.(Met1?)	NC_000023.10:g.64887709A>C	VUS	1 lab	4f16c6626b
3:10142886 FANCD2 C>T	3	10142886	10142886	C	T	FANCD2	c.4296C>T	NM_001018115.1	NP_001018125.1:p.(Asp1432=)	NC_000003.11:g.10142886C>T	(Likely) benign	1 lab	4f188778e7
1:45297824 PTCH2 T>A	1	45297824	45297824	T	A	PTCH2	c.455A>T	NM_003738.5	NP_003729.3:p.(Lys152Met)	NC_000001.10:g.45297824T>A	VUS	1 lab	4f1b18b08c
16:70871605 HYDIN A>ACC	16	70871605	70871608	A	ACC	HYDIN	c.13228_13229dup	NM_001270974.2	NP_001257903.1:p.(Thr4411ValfsTer4)	NC_000016.9:g.70871607_70871608dup	VUS	1 lab	4f1bf7928c
9:135772660 TSC1 G>T	9	135772660	135772660	G	T	TSC1	c.2886C>A	NM_000368.4	NP_000359.1:p.(Ile962=)	NC_000009.11:g.135772660G>T	(Likely) benign	1 lab	4f1ebb9aac
18:34261508 FHOD3 G>A	18	34261508	34261508	G	A	FHOD3	c.1945G>A	NM_001281740.2	NP_001268669.1:p.(Glu649Lys)	NC_000018.9:g.34261508G>A	VUS	1 lab	4f1fcf214c
6:160496968 IGF2R G>A	6	160496968	160496968	G	A	IGF2R	c.5256G>A	NM_000876.3	NP_000867.2:p.(Ala1752=)	NC_000006.11:g.160496968G>A	(Likely) benign	1 lab	4f1ff12466
6:56437600 DST A>G	6	56437600	56437600	A	G	DST	c.7142T>C	NM_001144769.2	NP_001138241.1:p.(Leu2381Pro)	NC_000006.11:g.56437600A>G	VUS	1 lab	4f22dd8a90
17:29553501 NF1 C>T	17	29553501	29553501	C	T	NF1	c.2050C>T	NM_000267.3	NP_000258.1:p.(Gln684Ter)	NC_000017.10:g.29553501C>T	(Likely) pathogenic	1 lab	4f22fb4af3
17:11572681 DNAH9 C>G	17	11572681	11572681	C	G	DNAH9	c.2929-6C>G	NM_001372.3	NP_001363.2:p.?	NC_000017.10:g.11572681C>G	VUS	1 lab	4f234c2494
1:3411234 MEGF6 C>T	1	3411234	3411234	C	T	MEGF6	c.3943G>A	NM_001409.4	NP_001400.3:p.(Ala1315Thr)	NC_000001.10:g.3411234C>T	(Likely) benign	1 lab	4f24c2ca3d
X:19482440 MAP3K15 G>A	X	19482440	19482440	G	A	MAP3K15	c.610C>T	NM_001001671.3	NP_001001671.3:p.(Arg204Ter)	NC_000023.10:g.19482440G>A	VUS	1 lab	4f256d903b
1:45478988 UROD G>T	1	45478988	45478988	G	T	UROD	c.238G>T	NM_000374.5	NP_000365.3:p.(Ala80Ser)	NC_000001.10:g.45478988G>T	(Likely) pathogenic	1 lab	4f25b5ff94
1:231408088 GNPAT G>A	1	231408088	231408088	G	A	GNPAT	c.1553G>A	NM_014236.3	NP_055051.1:p.(Arg518His)	NC_000001.10:g.231408088G>A	(Likely) benign	1 lab	4f2625632e
2:27281274 AGBL5 C>A	2	27281274	27281274	C	A	AGBL5	c.1678C>A	NM_021831.5	NP_068603.4:p.(Arg560=)	NC_000002.11:g.27281274C>A	(Likely) benign	1 lab	4f26ab9ace
5:169508902 DOCK2 C>T	5	169508902	169508902	C	T	DOCK2	c.5344C>T	NM_004946.3	NP_004937.1:p.(Arg1782Cys)	NC_000005.9:g.169508902C>T	(Likely) benign	1 lab	4f2c5f8d88
1:103471837 COL11A1 G>A	1	103471837	103471837	G	A	COL11A1	c.1754C>T	NM_080629.2	NP_542196.2:p.(Thr585Met)	NC_000001.10:g.103471837G>A	(Likely) benign	1 lab	4f2c621afe
5:140581462 PCDHB11 G>A	5	140581462	140581462	G	A	PCDHB11	c.2115G>A	NM_018931.2	NP_061754.1:p.(Val705=)	NC_000005.9:g.140581462G>A	(Likely) benign	1 lab	4f2c7ca365
12:113379598 OAS3 C>T	12	113379598	113379598	C	T	OAS3	c.401C>T	NM_006187.4	NP_006178.2:p.(Thr134Ile)	NC_000012.11:g.113379598C>T	(Likely) benign	1 lab	4f2f22f736
11:7981918 NLRP10 C>A	11	7981918	7981918	C	A	NLRP10	c.1241G>T	NM_176821.3	NP_789791.1:p.(Cys414Phe)	NC_000011.9:g.7981918C>A	VUS	1 lab	4f3242fb7b
2:241723191 KIF1A C>G	2	241723191	241723191	C	G	KIF1A	c.763G>C	NM_001244008.2	NP_001230937.1:p.(Ala255Pro)	NC_000002.11:g.241723191C>G	VUS	1 lab	efff762e27
9:100071777 CCDC180 A>G	9	100071777	100071777	A	G	CCDC180	c.283A>G	NM_020893.3	NP_065944.2:p.(Met95Val)	NC_000009.11:g.100071777A>G	(Likely) benign	1 lab	4f368e2567
4:187509862 FAT1 C>T	4	187509862	187509862	C	T	FAT1	c.13651G>A	NM_005245.3	NP_005236.2:p.(Ala4551Thr)	NC_000004.11:g.187509862C>T	VUS	1 lab	4f37637036
4:533077 PIGG C>A	4	533077	533077	C	A	PIGG	c.2871C>A	NM_001127178.2	NP_001120650.1:p.(Tyr957Ter)	NC_000004.11:g.533077C>A	(Likely) pathogenic	1 lab	4f38a6ffef
X:23397960 PTCHD1 C>T	X	23397960	23397960	C	T	PTCHD1	c.604C>T	NM_173495.2	NP_775766.2:p.(Arg202Trp)	NC_000023.10:g.23397960C>T	(Likely) benign	1 lab	4f38bc693a
1:158656285 SPTA1 G>A	1	158656285	158656285	G	A	SPTA1	c.23C>T	NM_003126.3	NP_003117.2:p.(Thr8Ile)	NC_000001.10:g.158656285G>A	(Likely) benign	1 lab	4f3a36957a
9:100243198 TDRD7 A>G	9	100243198	100243198	A	G	TDRD7	c.2390A>G	NM_014290.2	NP_055105.2:p.(Asn797Ser)	NC_000009.11:g.100243198A>G	VUS	1 lab	4f3ac6baa3
11:66293630 BBS1 C>T	11	66293630	66293630	C	T	BBS1	c.1147C>T	NM_024649.4	NP_078925.3:p.(Arg383Trp)	NC_000011.9:g.66293630C>T	VUS	1 lab	4f3d838f56
1:989295 AGRN C>T	1	989295	989295	C	T	AGRN	c.5883C>T	NM_001305275.2	NP_001292204.1:p.(Pro1961=)	NC_000001.10:g.989295C>T	(Likely) benign	1 lab	4f3db57489
3:142095422 XRN1 C>T	3	142095422	142095422	C	T	XRN1	c.2730G>A	NM_019001.4	NP_061874.3:p.(Lys910=)	NC_000003.11:g.142095422C>T	(Likely) benign	1 lab	4f3de7173f
16:24046861 PRKCB T>C	16	24046861	24046861	T	C	PRKCB	c.522T>C	NM_002738.6	NP_002729.2:p.(Ile174=)	NC_000016.9:g.24046861T>C	(Likely) benign	1 lab	4f40dab08d
X:153583355 FLNA C>T	X	153583355	153583355	C	T	FLNA	c.5055G>A	NM_001110556.2	NP_001104026.1:p.(Thr1685=)	NC_000023.10:g.153583355C>T	(Likely) benign	1 lab	4f41c186aa
8:87660106 CNGB3 C>T	8	87660106	87660106	C	T	CNGB3	c.913G>A	NM_019098.4	NP_061971.3:p.(Ala305Thr)	NC_000008.10:g.87660106C>T	(Likely) benign	1 lab	4f42c403df
3:185191301 MAP3K13 G>A	3	185191301	185191301	G	A	MAP3K13	c.2182G>A	NM_004721.5	NP_004712.1:p.(Ala728Thr)	NC_000003.11:g.185191301G>A	(Likely) benign	1 lab	4f42e955d5
11:94759689 KDM4E G>A	11	94759689	94759689	G	A	KDM4E	c.968G>A	NM_001161630.1	NP_001155102.1:p.(Arg323His)	NC_000011.9:g.94759689G>A	(Likely) benign	1 lab	4f4444402e
7:141414223 WEE2 T>C	7	141414223	141414223	T	C	WEE2	c.539+18T>C	NM_001105558.1	NP_001099028.1:p.?	NC_000007.13:g.141414223T>C	(Likely) benign	1 lab	f003287195
17:80045047 FASN G>C	17	80045047	80045047	G	C	FASN	c.3306C>G	NM_004104.5	NP_004095.4:p.(Ala1102=)	NC_000017.10:g.80045047G>C	(Likely) benign	1 lab	4f45a1683b
1:62979142 DOCK7 C>A	1	62979142	62979142	C	A	DOCK7	c.4255G>T	NM_001330614.1	NP_001317543.1:p.(Glu1419Ter)	NC_000001.10:g.62979142C>A	(Likely) pathogenic	1 lab	4f45cb296a
18:56009037 NEDD4L G>A	18	56009037	56009037	G	A	NEDD4L	c.1377+8G>A	NM_001144967.2	NP_001138439.1:p.?	NC_000018.9:g.56009037G>A	(Likely) benign	1 lab	4f46c641f5
2:206991447 NDUFS1 T>C	2	206991447	206991447	T	C	NDUFS1	c.2006A>G	NM_005006.6	NP_004997.4:p.(Asn669Ser)	NC_000002.11:g.206991447T>C	VUS	1 lab	4f46f3f815
11:1275431 MUC5B T>G	11	1275431	1275431	T	G	MUC5B	c.15327T>G	NM_002458.2	NP_002449.2:p.(Phe5109Leu)	NC_000011.9:g.1275431T>G	(Likely) benign	1 lab	4f4aac7366
19:54652449 CNOT3 C>T	19	54652449	54652449	C	T	CNOT3	c.1377C>T	NM_014516.4	NP_055331.1:p.(Ser459=)	NC_000019.9:g.54652449C>T	(Likely) benign	1 lab	4f4b892273
X:102612742 TCEAL9 A>T	X	102612742	102612742	A	T	TCEAL9	c.130A>T	NM_016303.3	NP_057387.1:p.(Thr44Ser)	NC_000023.10:g.102612742A>T	(Likely) benign	1 lab	4f4be802c7
16:2100505 TSC2 A>G	16	2100505	2100505	A	G	TSC2	c.225+18A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2100505A>G	(Likely) benign	1 lab	4f4c7f77be
3:10400361 ATP2B2 GCCCTGGGGCCTA>G	3	10400361	10400375	GCCCTGGGGCCTA	G	ATP2B2	c.2136+2_2136+13del	NM_001001331.4	NP_001001331.1:p.?	NC_000003.11:g.10400364_10400375del	VUS	1 lab	4f4cba7352
22:29083949 CHEK2 CG>C	22	29083949	29083953	CG	C	CHEK2	c.1567del	NM_007194.4	NP_009125.1:p.(Arg523ValfsTer43)	NC_000022.10:g.29083953del	VUS	1 lab	4f4d797aa5
20:3684735 SIGLEC1 G>A	20	3684735	3684735	G	A	SIGLEC1	c.710C>T	NM_023068.4	NP_075556.1:p.(Ala237Val)	NC_000020.10:g.3684735G>A	VUS	1 lab	4f51a229fd
1:33478872 AK2 G>A	1	33478872	33478872	G	A	AK2				NC_000001.10:g.33478872G>A	(Likely) benign	1 lab	4f51ac8363
7:148516722 EZH2 T>C	7	148516722	148516722	T	C	EZH2	c.965A>G	NM_004456.4	NP_004447.2:p.(Asn322Ser)	NC_000007.13:g.148516722T>C	(Likely) benign	1 lab	4f5301ee23
3:100570787 ABI3BP T>TA	3	100570787	100570801	T	TA	ABI3BP	c.1160-4dup	NM_015429.3	NP_056244.2:p.?	NC_000003.11:g.100570801dup	(Likely) benign	1 lab	4f539cabee
7:117304726 CFTR T>C	7	117304726	117304726	T	C	CFTR	c.3964-16T>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117304726T>C	(Likely) benign	1 lab	4f54770ddc
2:88895127 EIF2AK3 C>T	2	88895127	88895127	C	T	EIF2AK3	c.493G>A	NM_004836.6	NP_004827.4:p.(Asp165Asn)	NC_000002.11:g.88895127C>T	VUS	1 lab	4f54bbec1f
3:41277890 CTNNB1 CTG>C	3	41277890	41277894	CTG	C	CTNNB1	c.1857_1858del	NM_001904.4	NP_001895.1:p.(Cys619Ter)	NC_000003.11:g.41277893_41277894del	(Likely) pathogenic	1 lab	4f55255226
8:10465461 RP1L1 C>A	8	10465461	10465461	C	A	RP1L1	c.6147G>T	NM_178857.5	NP_849188.4:p.(Gln2049His)	NC_000008.10:g.10465461C>A	VUS	1 lab	4f554b9578
16:85695327 GSE1 A>T	16	85695327	85695327	A	T	GSE1	c.1904A>T	NM_001134473.3	NP_001127945.1:p.(Lys635Met)	NC_000016.9:g.85695327A>T	VUS	1 lab	f003f0c595
X:70360537 MED12 A>G	X	70360537	70360537	A	G	MED12	c.6097A>G	NM_005120.2	NP_005111.2:p.(Met2033Val)	NC_000023.10:g.70360537A>G	VUS	1 lab	4f56aa0b2a
10:134598602 NKX6-2 GCTT>G	10	134598602	134598611	GCTT	G	NKX6-2	c.649_651del	NM_177400.3	NP_796374.2:p.(Lys217del)	NC_000010.10:g.134598609_134598611del	VUS	1 lab	4f56b3798b
11:6414931 SMPD1 G>A	11	6414931	6414931	G	A	SMPD1	c.1340+8G>A	NM_000543.4	NP_000534.3:p.?	NC_000011.9:g.6414931G>A	(Likely) benign	1 lab	4f56f45f90
16:2135281 TSC2 CG>C	16	2135281	2135282	CG	C	TSC2	c.4621del	NM_000548.5	NP_000539.2:p.(Asp1541ThrfsTer35)	NC_000016.9:g.2135282del	(Likely) pathogenic	1 lab	4f5757f15c
3:148917507 CP T>C	3	148917507	148917507	T	C	CP	c.1493A>G	NM_000096.3	NP_000087.1:p.(Gln498Arg)	NC_000003.11:g.148917507T>C	(Likely) benign	1 lab	4f57663f1b
21:37650525 DOP1B C>T	21	37650525	37650525	C	T	DOP1B	c.5841C>T	NM_001320714.1	NP_001307643.1:p.(Ser1947=)	NC_000021.8:g.37650525C>T	(Likely) benign	1 lab	4f5da578d2
10:73121924 SLC29A3 C>T	10	73121924	73121924	C	T	SLC29A3	c.987C>T	NM_018344.6	NP_060814.4:p.(Asn329=)	NC_000010.10:g.73121924C>T	(Likely) benign	1 lab	4f5df4c3ef
16:10567821 ATF7IP2 AG>A	16	10567821	10567822	AG	A	ATF7IP2	c.1525del	NM_001393719.1	NP_001380648.1:p.(Glu509LysfsTer58)	NC_000016.9:g.10567822del	VUS	1 lab	4f5e3c0f5c
17:77081387 ENGASE C>T	17	77081387	77081387	C	T	ENGASE	c.1663C>T	NM_001042573.2	NP_001036038.1:p.(Arg555Cys)	NC_000017.10:g.77081387C>T	(Likely) benign	1 lab	4f5f10a79f
7:50143960 SPMIP7 C>A	7	50143960	50143960	C	A	SPMIP7	c.604C>A	NM_001161834.2	NP_001155306.2:p.(Arg202Ser)	NC_000007.13:g.50143960C>A	(Likely) benign	1 lab	4f5fe7c488
1:210186979 SYT14 A>C	1	210186979	210186979	A	C	SYT14	c.198A>C	NM_001146261.2	NP_001139733.1:p.(Val66=)	NC_000001.10:g.210186979A>C	(Likely) benign	1 lab	4f60492ce8
17:18023292 MYO15A AC>A	17	18023292	18023299	AC	A	MYO15A	c.1185del	NM_016239.4	NP_057323.3:p.(Glu396ArgfsTer48)	NC_000017.10:g.18023299del	(Likely) pathogenic	1 lab	4f6118409e
22:30070880 NF2 C>T	22	30070880	30070880	C	T	NF2	c.1396C>T	NM_000268.3	NP_000259.1:p.(Arg466Ter)	NC_000022.10:g.30070880C>T	(Likely) pathogenic	1 lab	4f644e6a1e
6:43252843 TTBK1 G>T	6	43252843	43252843	G	T	TTBK1	c.3695G>T	NM_032538.2	NP_115927.1:p.(Ser1232Ile)	NC_000006.11:g.43252843G>T	(Likely) benign	1 lab	4f647fd0a3
18:59751818 PIGN A>G	18	59751818	59751818	A	G	PIGN	c.2448T>C	NM_176787.4	NP_789744.1:p.(Tyr816=)	NC_000018.9:g.59751818A>G	(Likely) benign	1 lab	4f64d39596
17:9596450 USP43 G>A	17	9596450	9596450	G	A	USP43	c.1360G>A	NM_153210.5	NP_694942.3:p.(Gly454Arg)	NC_000017.10:g.9596450G>A	(Likely) benign	1 lab	4f65025680
15:25616382 UBE3A T>TA	15	25616382	25616383	T	TA	UBE3A	c.878dup	NM_130838.1	NP_570853.1:p.(Pro294ThrfsTer14)	NC_000015.9:g.25616383dup	(Likely) pathogenic	1 lab	4f65800637
19:56204151 EPN1 A>G	19	56204151	56204151	A	G	EPN1	c.1424A>G	NM_001130071.1	NP_001123543.1:p.(Asn475Ser)	NC_000019.9:g.56204151A>G	VUS	1 lab	4f66aa6459
9:2717869 KCNV2 C>T	9	2717869	2717869	C	T	KCNV2	c.130C>T	NM_133497.3	NP_598004.1:p.(His44Tyr)	NC_000009.11:g.2717869C>T	(Likely) benign	1 lab	4f680977f5
15:66995801 SMAD6 CG>C	15	66995801	66995804	CG	C	SMAD6	c.208del	NM_005585.5	NP_005576.3:p.(Asp70ThrfsTer55)	NC_000015.9:g.66995804del	(Likely) pathogenic	1 lab	4f6829323c
7:81381564 HGF C>T	7	81381564	81381564	C	T	HGF	c.497G>A	NM_000601.5	NP_000592.3:p.(Ser166Asn)	NC_000007.13:g.81381564C>T	VUS	1 lab	4f6ea56cac
15:91456987 MAN2A2 T>A	15	91456987	91456987	T	A	MAN2A2	c.2860+2T>A	NM_001320977.1	NP_001307906.1:p.?	NC_000015.9:g.91456987T>A	VUS	1 lab	4f72867cbb
5:11364826 CTNND2 T>C	5	11364826	11364826	T	C	CTNND2	c.1354A>G	NM_001332.3	NP_001323.1:p.(Thr452Ala)	NC_000005.9:g.11364826T>C	(Likely) benign	1 lab	4f72af9155
X:44703717 DUSP21 C>T	X	44703717	44703717	C	T	DUSP21	c.339C>T	NM_022076.3	NP_071359.3:p.(Ser113=)	NC_000023.10:g.44703717C>T	(Likely) benign	1 lab	4f733dd09a
6:16327933 ATXN1 C>A	6	16327933	16327933	C	A	ATXN1	c.609G>T	NM_000332.3	NP_000323.2:p.(Gln203His)	NC_000006.11:g.16327933C>A	(Likely) benign	1 lab	4f73630e81
X:10417724 MID1 G>A	X	10417724	10417724	G	A	MID1	c.1688C>T	NM_000381.3	NP_000372.1:p.(Pro563Leu)	NC_000023.10:g.10417724G>A	VUS	1 lab	4f73b87650
19:48305612 TPRX1 T>A	19	48305612	48305612	T	A	TPRX1	c.656A>T	NM_198479.2	NP_940881.2:p.(Asn219Ile)	NC_000019.9:g.48305612T>A	VUS	1 lab	4f7647ebc9
11:62289555 AHNAK G>C	11	62289555	62289555	G	C	AHNAK	c.12334C>G	NM_001620.2	NP_001611.1:p.(Leu4112Val)	NC_000011.9:g.62289555G>C	VUS	1 lab	4f771dd8f9
6:80838935 BCKDHB G>A	6	80838935	80838935	G	A	BCKDHB	c.332G>A	NM_183050.4	NP_898871.1:p.(Arg111Gln)	NC_000006.11:g.80838935G>A	VUS	1 lab	4f796c9c28
1:1640230 CDK11A C>T	1	1640230	1640230	C	T	CDK11A				NC_000001.10:g.1640230C>T	(Likely) benign	1 lab	4f7b9d70bd
11:1270781 MUC5B A>G	11	1270781	1270781	A	G	MUC5B	c.12671A>G	NM_002458.2	NP_002449.2:p.(Asn4224Ser)	NC_000011.9:g.1270781A>G	(Likely) benign	1 lab	4f7c037744
3:10311910 TATDN2 A>G	3	10311910	10311910	A	G	TATDN2	c.1044A>G	NM_014760.4	NP_055575.3:p.(Glu348=)	NC_000003.11:g.10311910A>G	(Likely) benign	1 lab	4f7d7e1de6
6:5431320 FARS2 T>A	6	5431320	5431320	T	A	FARS2	c.819T>A	NM_001318872.1	NP_001305801.1:p.(Pro273=)	NC_000006.11:g.5431320T>A	(Likely) benign	1 lab	4f7e53a5a9
17:11593517 DNAH9 C>A	17	11593517	11593517	C	A	DNAH9	c.4378C>A	NM_001372.3	NP_001363.2:p.(Pro1460Thr)	NC_000017.10:g.11593517C>A	(Likely) benign	1 lab	4f7edc0557
X:135593375 HTATSF1 G>A	X	135593375	135593375	G	A	HTATSF1	c.1471G>A	NM_001163280.1	NP_001156752.1:p.(Val491Ile)	NC_000023.10:g.135593375G>A	(Likely) benign	1 lab	4f83421661
20:30419947 MYLK2 T>C	20	30419947	30419947	T	C	MYLK2	c.1710+8T>C	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30419947T>C	(Likely) benign	1 lab	4f8365fbc5
13:35697692 NBEA C>T	13	35697692	35697692	C	T	NBEA	c.2317C>T	NM_015678.4	NP_056493.3:p.(Leu773=)	NC_000013.10:g.35697692C>T	(Likely) benign	1 lab	4f86fd005a
2:1653390 PXDN G>A	2	1653390	1653390	G	A	PXDN	c.2162C>T	NM_012293.2	NP_036425.1:p.(Ser721Leu)	NC_000002.11:g.1653390G>A	VUS	1 lab	4f87c53c9f
21:46930112 COL18A1 G>A	21	46930112	46930112	G	A	COL18A1	c.3621G>A	NM_130445.2	NP_569712.2:p.(Leu1207=)	NC_000021.8:g.46930112G>A	(Likely) benign	1 lab	4f87c66d61
X:41198321 DDX3X C>T	X	41198321	41198321	C	T	DDX3X	c.136C>T	NM_001356.4	NP_001347.3:p.(Arg46Ter)	NC_000023.10:g.41198321C>T	(Likely) pathogenic	1 lab	4f88a6d5b1
14:105416395 AHNAK2 G>GC	14	105416395	105416396	G	GC	AHNAK2	c.5392dup	NM_138420.3	NP_612429.2:p.(Ala1798GlyfsTer11)	NC_000014.8:g.105416396dup	VUS	1 lab	4f8ab09f3b
14:76425584 TGFB3 G>A	14	76425584	76425584	G	A	TGFB3	c.1185C>T	NM_003239.2	NP_003230.1:p.(Thr395=)	NC_000014.8:g.76425584G>A	(Likely) benign	1 lab	4f8ad5e751
13:32903633 BRCA2 A>G	13	32903633	32903633	A	G	BRCA2	c.681+4A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32903633A>G	(Likely) pathogenic	1 lab	f015c1cdb7
2:198283305 SF3B1 T>C	2	198283305	198283305	T	C	SF3B1	c.423A>G	NM_012433.4	NP_036565.2:p.(Lys141=)	NC_000002.11:g.198283305T>C	(Likely) benign	1 lab	f01a36c5fc
18:43496175 EPG5 T>A	18	43496175	43496175	T	A	EPG5	c.3385-4A>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43496175T>A	(Likely) benign	1 lab	4f8bf732ad
X:136113634 GPR101 T>C	X	136113634	136113634	T	C	GPR101	c.200A>G	NM_054021.1	NP_473362.1:p.(Asn67Ser)	NC_000023.10:g.136113634T>C	VUS	1 lab	4f8c8bf566
X:149638296 MAMLD1 A>G	X	149638296	149638296	A	G	MAMLD1	c.451A>G	NM_005491.4	NP_005482.2:p.(Thr151Ala)	NC_000023.10:g.149638296A>G	(Likely) benign	1 lab	4f8daf57de
20:56139347 PCK1 G>C	20	56139347	56139347	G	C	PCK1	c.1084G>C	NM_002591.3	NP_002582.3:p.(Glu362Gln)	NC_000020.10:g.56139347G>C	(Likely) benign	1 lab	4f8df33331
13:76427246 LMO7 C>T	13	76427246	76427246	C	T	LMO7	c.3537C>T	NM_005358.5	NP_005349.3:p.(Asn1179=)	NC_000013.10:g.76427246C>T	(Likely) benign	1 lab	4f9251b8d5
X:24690703 PCYT1B G>A	X	24690703	24690703	G	A	PCYT1B	c.47C>T	NM_001163264.1	NP_001156736.1:p.(Pro16Leu)	NC_000023.10:g.24690703G>A	(Likely) benign	1 lab	4f925f1e82
18:44172454 LOXHD1 A>G	18	44172454	44172454	A	G	LOXHD1	c.1518+7T>C	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44172454A>G	(Likely) benign	1 lab	4f957dc2c6
3:129251263 RHO C>T	3	129251263	129251263	C	T	RHO	c.696+4C>T	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129251263C>T	(Likely) benign	1 lab	4f976086ff
20:43681809 STK4 G>C	20	43681809	43681809	G	C	STK4	c.1388G>C	NM_001352385.1	NP_001339314.1:p.(Ter463SerextTer23)	NC_000020.10:g.43681809G>C	VUS	1 lab	4f9873aabf
5:156665172 ITK C>T	5	156665172	156665172	C	T	ITK	c.822C>T	NM_005546.3	NP_005537.3:p.(Thr274=)	NC_000005.9:g.156665172C>T	(Likely) benign	1 lab	4f987de482
17:40695845 NAGLU C>T	17	40695845	40695845	C	T	NAGLU	c.1821C>T	NM_000263.3	NP_000254.2:p.(Asp607=)	NC_000017.10:g.40695845C>T	(Likely) benign	1 lab	4f98d554a0
5:131052285 FNIP1 C>T	5	131052285	131052285	C	T	FNIP1	c.595G>A	NM_133372.3	NP_588613.3:p.(Val199Ile)	NC_000005.9:g.131052285C>T	(Likely) benign	1 lab	4f9a96d618
9:20885204 FOCAD A>T	9	20885204	20885204	A	T	FOCAD	c.2600A>T	NM_017794.4	NP_060264.4:p.(Gln867Leu)	NC_000009.11:g.20885204A>T	VUS	1 lab	4f9ae5d25d
17:73518117 TSEN54 G>A	17	73518117	73518117	G	A	TSEN54	c.955G>A	NM_207346.2	NP_997229.2:p.(Ala319Thr)	NC_000017.10:g.73518117G>A	(Likely) benign	1 lab	4f9b877a7d
16:81396189 GAN A>G	16	81396189	81396189	A	G	GAN	c.1059A>G	NM_022041.3	NP_071324.1:p.(Thr353=)	NC_000016.9:g.81396189A>G	(Likely) benign	1 lab	4f9bbc8527
13:31891806 B3GLCT A>G	13	31891806	31891806	A	G	B3GLCT	c.1168A>G	NM_194318.3	NP_919299.3:p.(Ile390Val)	NC_000013.10:g.31891806A>G	VUS	1 lab	4f9c8410e4
14:102495878 DYNC1H1 G>A	14	102495878	102495878	G	A	DYNC1H1	c.9471G>A	NM_001376.4	NP_001367.2:p.(Ala3157=)	NC_000014.8:g.102495878G>A	(Likely) benign	1 lab	4f9eacc47b
18:44140254 LOXHD1 C>T	18	44140254	44140254	C	T	LOXHD1	c.2853G>A	NM_144612.6	NP_653213.6:p.(Glu951=)	NC_000018.9:g.44140254C>T	(Likely) benign	1 lab	4f9f5890cd
11:67075069 SSH3 G>A	11	67075069	67075069	G	A	SSH3	c.652G>A	NM_017857.4	NP_060327.3:p.(Gly218Ser)	NC_000011.9:g.67075069G>A	(Likely) benign	1 lab	4fa019a703
10:73574758 CDH23 A>G	10	73574758	73574758	A	G	CDH23	c.9788A>G	NM_022124.5	NP_071407.4:p.(Gln3263Arg)	NC_000010.10:g.73574758A>G	VUS	1 lab	4fa01f65f2
17:73520364 TSEN54 C>T	17	73520364	73520364	C	T	TSEN54	c.1452C>T	NM_207346.2	NP_997229.2:p.(Asp484=)	NC_000017.10:g.73520364C>T	(Likely) benign	1 lab	4fa086121d
3:123382995 MYLK G>T	3	123382995	123382995	G	T	MYLK	c.3942C>A	NM_053025.3	NP_444253.3:p.(Asn1314Lys)	NC_000003.11:g.123382995G>T	VUS	1 lab	4fa1260357
2:179437089 TTN A>G	2	179437089	179437089	A	G	TTN	c.73770T>C	NM_001267550.1	NP_001254479.1:p.(Tyr24590=)	NC_000002.11:g.179437089A>G	(Likely) benign	1 lab	4fa131ba86
X:117043635 KLHL13 C>T	X	117043635	117043635	C	T	KLHL13	c.995G>A	NM_033495.3	NP_277030.2:p.(Arg332Lys)	NC_000023.10:g.117043635C>T	VUS	1 lab	4fa15d70b7
1:86591817 COL24A1 A>G	1	86591817	86591817	A	G	COL24A1	c.202T>C	NM_152890.6	NP_690850.2:p.(Ser68Pro)	NC_000001.10:g.86591817A>G	VUS	1 lab	4fa238a98a
11:60233409 MS4A1 A>C	11	60233409	60233409	A	C	MS4A1	c.352A>C	NM_152866.2	NP_690605.1:p.(Ile118Leu)	NC_000011.9:g.60233409A>C	(Likely) benign	1 lab	4fa249a2de
X:66931522 AR G>A	X	66931522	66931522	G	A	AR	c.2164G>A	NM_000044.4	NP_000035.2:p.(Ala722Thr)	NC_000023.10:g.66931522G>A	(Likely) pathogenic	1 lab	4fa3a701b5
14:99641556 BCL11B C>CTCCTCCTCCTCCTCG	14	99641556	99641583	C	CTCCTCCTCCTCCTCG	BCL11B	c.1602_1616dup	NM_138576.4	NP_612808.1:p.(Asp534_Glu538dup)	NC_000014.8:g.99641569_99641583dup	VUS	1 lab	f01d5f93be
16:87960526 CA5A G>A	16	87960526	87960526	G	A	CA5A	c.168C>T	NM_001367225.1	NP_001354154.1:p.(Val56=)	NC_000016.9:g.87960526G>A	(Likely) benign	1 lab	4fa659174e
19:22000766 ZNF43 G>A	19	22000766	22000766	G	A	ZNF43	c.135C>T	NM_001256648.1	NP_001243577.1:p.(Asp45=)	NC_000019.9:g.22000766G>A	(Likely) benign	1 lab	4fa70dc267
21:46930128 COL18A1 A>G	21	46930128	46930128	A	G	COL18A1	c.4882A>G	NM_130444.3	NP_569711.2:p.(Ile1628Val)	NC_000021.8:g.46930128A>G	VUS	1 lab	4fa76a13d0
8:94935325 PDP1 G>C	8	94935325	94935325	G	C	PDP1	c.1113G>C	NM_001161779.1	NP_001155251.1:p.(Leu371Phe)	NC_000008.10:g.94935325G>C	VUS	1 lab	4fabaf097d
10:95168648 MYOF G>A	10	95168648	95168648	G	A	MYOF	c.625C>T	NM_013451.4	NP_038479.1:p.(Arg209Ter)	NC_000010.10:g.95168648G>A	VUS	1 lab	f01d77fdd0
10:102777923 PDZD7 G>GCGC	10	102777923	102777927	G	GCGC	PDZD7	c.1452_1454dup	NM_001195263.1	NP_001182192.1:p.(Arg486dup)	NC_000010.10:g.102777925_102777927dup	VUS	1 lab	4fb13cecba
X:101970240 GPRASP2 C>T	X	101970240	101970240	C	T	GPRASP2	c.443C>T	NM_001184874.2	NP_001171803.1:p.(Thr148Ile)	NC_000023.10:g.101970240C>T	(Likely) benign	1 lab	4fb2a1b344
20:2819731 PCED1A A>ACCCCCC	20	2819731	2819735	A	ACCCCCC	PCED1A	c.205-4_205-3insGGGGGG	NM_022760.5	NP_073597.2:p.?	NC_000020.10:g.2819734_2819735insCCCCCC	(Likely) benign	1 lab	4fb5bfc03b
5:127637029 FBN2 A>G	5	127637029	127637029	A	G	FBN2	c.6046+45T>C	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127637029A>G	(Likely) benign	1 lab	4fb5d3b26a
X:41205658 DDX3X A>G	X	41205658	41205658	A	G	DDX3X	c.1492A>G	NM_001356.4	NP_001347.3:p.(Thr498Ala)	NC_000023.10:g.41205658A>G	VUS	1 lab	4fb60fa95e
X:69640000 KIF4A A>G	X	69640000	69640000	A	G	KIF4A	c.3584A>G	NM_012310.4	NP_036442.3:p.(His1195Arg)	NC_000023.10:g.69640000A>G	(Likely) benign	1 lab	4fb64ffdf3
17:80881602 TBCD A>G	17	80881602	80881602	A	G	TBCD	c.2253A>G	NM_005993.4	NP_005984.3:p.(Ala751=)	NC_000017.10:g.80881602A>G	(Likely) benign	1 lab	4fb7fdb514
9:140056978 GRIN1 C>T	9	140056978	140056978	C	T	GRIN1	c.1864+10C>T	NM_007327.3	NP_015566.1:p.?	NC_000009.11:g.140056978C>T	(Likely) benign	1 lab	4fbab5e5ac
13:32913164 BRCA2 A>AGTTTTAGCCATCAATG	13	32913164	32913181	A	AGTTTTAGCCATCAATG	BRCA2	c.4674_4689dup	NM_000059.4	NP_000050.3:p.(Ala1564PhefsTer2)	NC_000013.10:g.32913166_32913181dup	(Likely) pathogenic	1 lab	f01f62b24e
X:153760473 G6PD G>A	X	153760473	153760473	G	A	G6PD	c.1477C>T	NM_000402.4	NP_000393.4:p.(Arg493Cys)	NC_000023.10:g.153760473G>A	VUS	1 lab	4fbdc2f97f
1:45294916 PTCH2 G>A	1	45294916	45294916	G	A	PTCH2	c.1284C>T	NM_001166292.2	NP_001159764.1:p.(Ala428=)	NC_000001.10:g.45294916G>A	(Likely) benign	1 lab	f020daa020
17:17700381 RAI1 C>T	17	17700381	17700381	C	T	RAI1	c.4119C>T	NM_030665.3	NP_109590.3:p.(Gly1373=)	NC_000017.10:g.17700381C>T	(Likely) benign	1 lab	4fc24a6524
2:240085555 HDAC4 C>T	2	240085555	240085555	C	T	HDAC4	c.555G>A	NM_006037.3	NP_006028.2:p.(Ala185=)	NC_000002.11:g.240085555C>T	(Likely) benign	1 lab	4fc576250d
11:66472283 SPTBN2 C>T	11	66472283	66472283	C	T	SPTBN2	c.2464G>A	NM_006946.3	NP_008877.1:p.(Glu822Lys)	NC_000011.9:g.66472283C>T	VUS	1 lab	4fc60bd3c2
Y:14837103 USP9Y C>A	Y	14837103	14837103	C	A	USP9Y	c.383C>A	NM_004654.3	NP_004645.2:p.(Ser128Tyr)	NC_000024.9:g.14837103C>A	VUS	1 lab	4fc7eff1d1
2:26492866 HADHB G>A	2	26492866	26492866	G	A	HADHB	c.188+1G>A	NM_001281513.1	NP_001268442.1:p.?	NC_000002.11:g.26492866G>A	(Likely) pathogenic	1 lab	4fc8b6bd7d
1:235969794 LYST G>A	1	235969794	235969794	G	A	LYST	c.2642C>T	NM_001301365.1	NP_001288294.1:p.(Ala881Val)	NC_000001.10:g.235969794G>A	(Likely) benign	1 lab	4fc8eacb3e
16:2090051 NTHL1 G>A	16	2090051	2090051	G	A	NTHL1	c.792-3C>T	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2090051G>A	(Likely) benign	1 lab	4fc98c972f
9:140953085 CACNA1B A>C	9	140953085	140953085	A	C	CACNA1B	c.4373A>C	NM_000718.3	NP_000709.1:p.(Gln1458Pro)	NC_000009.11:g.140953085A>C	VUS	1 lab	4fca4be6ec
9:134103704 NUP214 C>T	9	134103704	134103704	C	T	NUP214	c.6060C>T	NM_005085.3	NP_005076.3:p.(Ser2020=)	NC_000009.11:g.134103704C>T	(Likely) benign	1 lab	4fca582450
5:127611741 FBN2 T>C	5	127611741	127611741	T	C	FBN2	c.7583A>G	NM_001999.3	NP_001990.2:p.(Lys2528Arg)	NC_000005.9:g.127611741T>C	VUS	1 lab	4fcb901b23
9:43625589 SPATA31A6 C>G	9	43625589	43625589	C	G	SPATA31A6	c.3098G>C	NM_001145196.1	NP_001138668.1:p.(Gly1033Ala)	NC_000009.11:g.43625589C>G	(Likely) benign	1 lab	4fcbf4b492
X:152956901 SLC6A8 C>T	X	152956901	152956901	C	T	SLC6A8	c.537C>T	NM_005629.3	NP_005620.1:p.(Pro179=)	NC_000023.10:g.152956901C>T	(Likely) benign	1 lab	4fcd8d54c2
7:117180165 CFTR A>T	7	117180165	117180165	A	T	CFTR	c.881A>T	NM_000492.3	NP_000483.3:p.(Lys294Ile)	NC_000007.13:g.117180165A>T	VUS	1 lab	4fce0ec168
11:118963898 HMBS G>A	11	118963898	118963898	G	A	HMBS	c.991G>A	NM_000190.4	NP_000181.2:p.(Ala331Thr)	NC_000011.9:g.118963898G>A	(Likely) pathogenic	1 lab	4fce3d29a8
5:13770941 DNAH5 C>T	5	13770941	13770941	C	T	DNAH5	c.9522G>A	NM_001369.2	NP_001360.1:p.(Thr3174=)	NC_000005.9:g.13770941C>T	(Likely) benign	1 lab	4fcf16f527
X:148564708 IDS G>A	X	148564708	148564708	G	A	IDS	c.1222C>T	NM_000202.7	NP_000193.1:p.(Pro408Ser)	NC_000023.10:g.148564708G>A	VUS	1 lab	4fd412eac9
20:34785922 EPB41L1 G>A	20	34785922	34785922	G	A	EPB41L1	c.1627G>A	NM_001258329.1	NP_001245258.1:p.(Ala543Thr)	NC_000020.10:g.34785922G>A	(Likely) benign	1 lab	4fd63f8191
16:23640975 PALB2 G>A	16	23640975	23640975	G	A	PALB2	c.2500C>T	NM_024675.3	NP_078951.2:p.(His834Tyr)	NC_000016.9:g.23640975G>A	(Likely) benign	1 lab	4fd67ea2ec
11:121008680 TECTA C>T	11	121008680	121008680	C	T	TECTA	c.3492C>T	NM_005422.2	NP_005413.2:p.(Thr1164=)	NC_000011.9:g.121008680C>T	(Likely) benign	1 lab	4fd776be7a
7:5567635 ACTB C>T	7	5567635	5567635	C	T	ACTB	c.984G>A	NM_001101.3	NP_001092.1:p.(Lys328=)	NC_000007.13:g.5567635C>T	(Likely) benign	1 lab	4fd8e36fea
15:43892256 STRC A>G	15	43892256	43892256	A	G	STRC	c.5141T>C	NM_153700.2	NP_714544.1:p.(Val1714Ala)	NC_000015.9:g.43892256A>G	(Likely) benign	1 lab	4fda423ebe
X:140994155 MAGEC1 C>T	X	140994155	140994155	C	T	MAGEC1	c.965C>T	NM_005462.4	NP_005453.2:p.(Ser322Phe)	NC_000023.10:g.140994155C>T	VUS	1 lab	4fdabdd06e
2:191850363 STAT1 A>G	2	191850363	191850363	A	G	STAT1	c.1245T>C	NM_007315.3	NP_009330.1:p.(Ala415=)	NC_000002.11:g.191850363A>G	(Likely) benign	1 lab	4fdbe7a56d
2:179456643 TTN G>A	2	179456643	179456643	G	A	TTN	c.59927-24C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179456643G>A	(Likely) benign	1 lab	4fdd6f2e01
9:130207387 ZNF79 G>A	9	130207387	130207387	G	A	ZNF79	c.1336G>A	NM_001322260.1	NP_001309189.1:p.(Val446Met)	NC_000009.11:g.130207387G>A	VUS	1 lab	4fde6a5115
X:5821786 NLGN4X G>A	X	5821786	5821786	G	A	NLGN4X	c.933C>T	NM_020742.4	NP_065793.1:p.(Thr311=)	NC_000023.10:g.5821786G>A	(Likely) benign	1 lab	f025983999
20:23729661 CST1 G>A	20	23729661	23729661	G	A	CST1	c.334C>T	NM_001898.2	NP_001889.2:p.(Leu112=)	NC_000020.10:g.23729661G>A	(Likely) benign	1 lab	4fe111c87b
11:6637630 TPP1 A>G	11	6637630	6637630	A	G	TPP1	c.991T>C	NM_000391.3	NP_000382.3:p.(Ser331Pro)	NC_000011.9:g.6637630A>G	VUS	1 lab	4fe1c1e8f5
21:47699944 MCM3AP C>T	21	47699944	47699944	C	T	MCM3AP	c.1630G>A	NM_003906.4	NP_003897.2:p.(Ala544Thr)	NC_000021.8:g.47699944C>T	(Likely) benign	1 lab	4fe281c758
2:73675791 ALMS1 T>C	2	73675791	73675791	T	C	ALMS1	c.2140T>C	NM_015120.4	NP_055935.4:p.(Ser714Pro)	NC_000002.11:g.73675791T>C	(Likely) benign	1 lab	4fe2a5ee8d
7:92129161 PEX1 C>A	7	92129161	92129161	C	A	PEX1	c.1960-9G>T	NM_001282678.1	NP_001269607.1:p.?	NC_000007.13:g.92129161C>A	(Likely) benign	1 lab	4fe30e32db
1:12069725 MFN2 G>A	1	12069725	12069725	G	A	MFN2	c.2146G>A	NM_014874.3	NP_055689.1:p.(Ala716Thr)	NC_000001.10:g.12069725G>A	VUS	1 lab	4fe3267ae9
19:44933785 ZNF229 T>C	19	44933785	44933785	T	C	ZNF229	c.1171A>G	NM_014518.4	NP_055333.3:p.(Asn391Asp)	NC_000019.9:g.44933785T>C	VUS	1 lab	4fe4e31323
2:162273419 TBR1 G>T	2	162273419	162273419	G	T	TBR1	c.498G>T	NM_006593.3	NP_006584.1:p.(Pro166=)	NC_000002.11:g.162273419G>T	(Likely) benign	1 lab	4fe5194457
7:2311491 SNX8 G>A	7	2311491	2311491	G	A	SNX8	c.534C>T	NM_013321.4	NP_037453.1:p.(Ser178=)	NC_000007.13:g.2311491G>A	(Likely) benign	1 lab	4fe5ef54b3
X:54839576 MAGED2 G>A	X	54839576	54839576	G	A	MAGED2	c.1191G>A	NM_177433.2	NP_803182.1:p.(Lys397=)	NC_000023.10:g.54839576G>A	(Likely) benign	1 lab	4fe6bbc574
9:134386759 POMT1 G>A	9	134386759	134386759	G	A	POMT1	c.957G>A	NM_007171.3	NP_009102.3:p.(Leu319=)	NC_000009.11:g.134386759G>A	(Likely) benign	1 lab	4fe6dc5faa
X:48676478 HDAC6 C>T	X	48676478	48676478	C	T	HDAC6	c.1956C>T	NM_001321226.1	NP_001308155.1:p.(His652=)	NC_000023.10:g.48676478C>T	(Likely) benign	1 lab	4fe8c97210
22:51160295 MISSING C>T	22	51160295	51160295	C	T	MISSING				NC_000022.10:g.51160295C>T	(Likely) benign	1 lab	4fe9837548
15:77770803 HMG20A G>C	15	77770803	77770803	G	C	HMG20A	c.858G>C	NM_018200.3	NP_060670.1:p.(Glu286Asp)	NC_000015.9:g.77770803G>C	(Likely) benign	1 lab	4fe9c6f72f
9:2643251 VLDLR C>T	9	2643251	2643251	C	T	VLDLR	c.540C>T	NM_003383.4	NP_003374.3:p.(Ser180=)	NC_000009.11:g.2643251C>T	(Likely) benign	1 lab	4fea0f5818
17:8046804 PER1 G>A	17	8046804	8046804	G	A	PER1	c.2852C>T	NM_002616.3	NP_002607.2:p.(Ser951Leu)	NC_000017.10:g.8046804G>A	(Likely) benign	1 lab	4feb11e12b
12:49420659 KMT2D A>C	12	49420659	49420659	A	C	KMT2D	c.15090T>G	NM_003482.3	NP_003473.3:p.(Arg5030=)	NC_000012.11:g.49420659A>C	(Likely) benign	1 lab	4feee5a1c1
7:138394386 ATP6V0A4 G>A	7	138394386	138394386	G	A	ATP6V0A4	c.2412C>T	NM_020632.2	NP_065683.2:p.(His804=)	NC_000007.13:g.138394386G>A	(Likely) benign	1 lab	4ff05bb869
16:54967132 IRX5 C>T	16	54967132	54967132	C	T	IRX5	c.799C>T	NM_005853.5	NP_005844.4:p.(Pro267Ser)	NC_000016.9:g.54967132C>T	(Likely) benign	1 lab	4ff1ec358e
X:128879188 XPNPEP2 A>C	X	128879188	128879188	A	C	XPNPEP2	c.244A>C	NM_003399.5	NP_003390.4:p.(Ile82Leu)	NC_000023.10:g.128879188A>C	VUS	1 lab	4ff2900734
5:73153949 ARHGEF28 A>G	5	73153949	73153949	A	G	ARHGEF28	c.1952A>G	NM_001080479.2	NP_001073948.2:p.(Asn651Ser)	NC_000005.9:g.73153949A>G	(Likely) benign	1 lab	4ff32a9087
22:30035106 NF2 G>GAACC	22	30035106	30035111	G	GAACC	NF2	c.270_273dup	NM_000268.3	NP_000259.1:p.(Val92ThrfsTer13)	NC_000022.10:g.30035108_30035111dup	(Likely) pathogenic	1 lab	4ff37ede90
17:29586147 NF1 G>C	17	29586147	29586147	G	C	NF1	c.4367G>C	NM_000267.3	NP_000258.1:p.(Arg1456Thr)	NC_000017.10:g.29586147G>C	(Likely) pathogenic	1 lab	4ff4643dc0
1:3319573 PRDM16 C>G	1	3319573	3319573	C	G	PRDM16	c.884+11C>G	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3319573C>G	(Likely) benign	1 lab	4ff527fc34
19:1390867 NDUFS7 C>T	19	1390867	1390867	C	T	NDUFS7	c.229-3C>T	NM_024407.4	NP_077718.3:p.?	NC_000019.9:g.1390867C>T	VUS	1 lab	5b8fc52461
10:70218927 DNA2 C>T	10	70218927	70218927	C	T	DNA2	c.653G>A	NM_001080449.2	NP_001073918.2:p.(Cys218Tyr)	NC_000010.10:g.70218927C>T	(Likely) benign	1 lab	4ff6881de8
7:98507897 TRRAP C>T	7	98507897	98507897	C	T	TRRAP	c.1569C>T	NM_001244580.1	NP_001231509.1:p.(Pro523=)	NC_000007.13:g.98507897C>T	(Likely) benign	1 lab	4ff6d941ab
11:78154745 NARS2 T>C	11	78154745	78154745	T	C	NARS2	c.1224A>G	NM_024678.6	NP_078954.4:p.(Arg408=)	NC_000011.9:g.78154745T>C	(Likely) benign	1 lab	4ff7b43300
19:38379683 WDR87 G>T	19	38379683	38379683	G	T	WDR87	c.4628C>A	NM_001291088.1	NP_001278017.1:p.(Ser1543Tyr)	NC_000019.9:g.38379683G>T	(Likely) benign	1 lab	4ff899c793
5:13865980 DNAH5 T>C	5	13865980	13865980	T	C	DNAH5	c.4152A>G	NM_001369.2	NP_001360.1:p.(Thr1384=)	NC_000005.9:g.13865980T>C	(Likely) benign	1 lab	4ff939f99e
X:1719739 AKAP17A C>T	X	1719739	1719739	C	T	AKAP17A	c.1340C>T	NM_005088.2	NP_005079.2:p.(Pro447Leu)	NC_000023.10:g.1719739C>T	(Likely) benign	1 lab	4ffae7ccf9
12:40821299 MUC19 G>C	12	40821299	40821299	G	C	MUC19	c.2272+1G>C	NM_173600.2	NP_775871.2:p.?	NC_000012.11:g.40821299G>C	(Likely) benign	1 lab	4ffb385b1d
X:70320579 FOXO4 G>C	X	70320579	70320579	G	C	FOXO4	c.499G>C	NM_005938.3	NP_005929.2:p.(Val167Leu)	NC_000023.10:g.70320579G>C	VUS	1 lab	4ffbda01e7
17:40384074 STAT5B C>T	17	40384074	40384074	C	T	STAT5B	c.72G>A	NM_012448.3	NP_036580.2:p.(Gln24=)	NC_000017.10:g.40384074C>T	(Likely) benign	1 lab	4ffc250fe6
12:103237436 PAH T>C	12	103237436	103237436	T	C	PAH	c.1187A>G	NM_001354304.1	NP_001341233.1:p.(Lys396Arg)	NC_000012.11:g.103237436T>C	VUS	1 lab	4ffc3362ad
1:46463419 MAST2 C>T	1	46463419	46463419	C	T	MAST2	c.133C>T	NM_001324321.1	NP_001311250.1:p.(Arg45Trp)	NC_000001.10:g.46463419C>T	VUS	1 lab	4ffcff73b8
X:153179022 ARHGAP4 G>A	X	153179022	153179022	G	A	ARHGAP4	c.1287C>T	NM_001164741.1	NP_001158213.1:p.(Ala429=)	NC_000023.10:g.153179022G>A	(Likely) benign	1 lab	4ffd55cb07
15:77317887 PSTPIP1 G>T	15	77317887	77317887	G	T	PSTPIP1	c.296G>T	NM_003978.5	NP_003969.2:p.(Arg99Leu)	NC_000015.9:g.77317887G>T	(Likely) benign	1 lab	f026c413a1
12:98989529 SLC25A3 C>T	12	98989529	98989529	C	T	SLC25A3	c.182C>T	NM_213611.2	NP_998776.1:p.(Ala61Val)	NC_000012.11:g.98989529C>T	(Likely) benign	1 lab	50006b1a54
6:90642327 BACH2 G>T	6	90642327	90642327	G	T	BACH2	c.2326C>A	NM_021813.4	NP_068585.1:p.(Pro776Thr)	NC_000006.11:g.90642327G>T	(Likely) benign	1 lab	500092bfae
17:29657518 NF1 T>G	17	29657518	29657518	T	G	NF1	c.5749+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29657518T>G	(Likely) pathogenic	1 lab	5001ad5e95
X:100746953 ARMCX4 G>A	X	100746953	100746953	G	A	ARMCX4	c.3377G>A	NM_001256155.2	NP_001243084.2:p.(Ser1126Asn)	NC_000023.10:g.100746953G>A	(Likely) benign	1 lab	5003d8b265
1:115216583 AMPD1 C>G	1	115216583	115216583	C	G	AMPD1	c.2020G>C	NM_000036.2	NP_000027.2:p.(Gly674Arg)	NC_000001.10:g.115216583C>G	VUS	1 lab	50052cdc35
17:73096881 SLC16A5 C>G	17	73096881	73096881	C	G	SLC16A5	c.1123C>G	NM_001271765.1	NP_001258694.1:p.(Leu375Val)	NC_000017.10:g.73096881C>G	(Likely) benign	1 lab	500557f14f
1:212870305 BATF3 C>T	1	212870305	212870305	C	T	BATF3	c.193G>A	NM_018664.3	NP_061134.1:p.(Glu65Lys)	NC_000001.10:g.212870305C>T	VUS	1 lab	5005ce902f
17:48667993 CACNA1G C>T	17	48667993	48667993	C	T	CACNA1G	c.2453+10C>T	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48667993C>T	(Likely) benign	1 lab	5007f51cda
12:124819120 NCOR2 A>G	12	124819120	124819120	A	G	NCOR2	c.6455T>C	NM_006312.5	NP_006303.4:p.(Leu2152Pro)	NC_000012.11:g.124819120A>G	VUS	1 lab	500ddef975
19:1057343 ABCA7 G>A	19	1057343	1057343	G	A	ABCA7	c.4795G>A	NM_019112.3	NP_061985.2:p.(Val1599Met)	NC_000019.9:g.1057343G>A	VUS	1 lab	500e1a7a33
3:47284676 KIF9 A>C	3	47284676	47284676	A	C	KIF9	c.1574T>G	NM_001134878.1	NP_001128350.1:p.(Val525Gly)	NC_000003.11:g.47284676A>C	(Likely) benign	1 lab	500e564550
6:56492023 DST T>C	6	56492023	56492023	T	C	DST	c.4602A>G	NM_001144769.2	NP_001138241.1:p.(Glu1534=)	NC_000006.11:g.56492023T>C	(Likely) benign	1 lab	500fc439a5
6:157488190 ARID1B G>A	6	157488190	157488190	G	A	ARID1B	c.2896G>A	NM_020732.3	NP_065783.3:p.(Gly966Ser)	NC_000006.11:g.157488190G>A	(Likely) benign	1 lab	50101d0c03
15:43900269 STRC C>A	15	43900269	43900269	C	A	STRC	c.3681+9G>T	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43900269C>A	(Likely) benign	1 lab	5010417f33
17:74729685 METTL23 AAAG>A	17	74729685	74729692	AAAG	A	METTL23	c.495_497del	NM_001080510.5	NP_001073979.3:p.(Glu165del)	NC_000017.10:g.74729690_74729692del	VUS	1 lab	501060d872
14:64548193 SYNE2 T>C	14	64548193	64548193	T	C	SYNE2	c.11379T>C	NM_182914.2	NP_878918.2:p.(Leu3793=)	NC_000014.8:g.64548193T>C	(Likely) benign	1 lab	5010740685
15:48818344 FBN1 T>C	15	48818344	48818344	T	C	FBN1	c.971A>G	NM_000138.4	NP_000129.3:p.(Asp324Gly)	NC_000015.9:g.48818344T>C	VUS	1 lab	5010f86925
19:42474374 ATP1A3 G>A	19	42474374	42474374	G	A	ATP1A3	c.2505C>T	NM_152296.5	NP_689509.1:p.(Val835=)	NC_000019.9:g.42474374G>A	(Likely) benign	1 lab	50112d9789
2:112732891 MERTK A>G	2	112732891	112732891	A	G	MERTK	c.986A>G	NM_006343.2	NP_006334.2:p.(Asn329Ser)	NC_000002.11:g.112732891A>G	VUS	1 lab	5013196429
4:103645083 MANBA G>A	4	103645083	103645083	G	A	MANBA	c.314C>T	NM_005908.3	NP_005899.3:p.(Thr105Met)	NC_000004.11:g.103645083G>A	VUS	1 lab	5014535a92
16:67679960 CARMIL2 G>A	16	67679960	67679960	G	A	CARMIL2	c.226G>A	NM_001013838.2	NP_001013860.1:p.(Ala76Thr)	NC_000016.9:g.67679960G>A	(Likely) benign	1 lab	5014717cdd
1:17320239 ATP13A2 C>T	1	17320239	17320239	C	T	ATP13A2	c.1619G>A	NM_001141973.2	NP_001135445.1:p.(Arg540His)	NC_000001.10:g.17320239C>T	(Likely) benign	1 lab	501557f782
5:169469119 DOCK2 T>C	5	169469119	169469119	T	C	DOCK2	c.3859T>C	NM_004946.3	NP_004937.1:p.(Tyr1287His)	NC_000005.9:g.169469119T>C	VUS	1 lab	5015fcf24d
17:29562923 NF1 T>G	17	29562923	29562923	T	G	NF1	c.3871-13T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562923T>G	(Likely) benign	1 lab	501769c7ba
22:21350056 LZTR1 T>C	22	21350056	21350056	T	C	LZTR1	c.1964T>C	NM_006767.3	NP_006758.2:p.(Met655Thr)	NC_000022.10:g.21350056T>C	VUS	1 lab	5017ee9449
1:43908598 SZT2 G>A	1	43908598	43908598	G	A	SZT2	c.8089G>A	NM_015284.3	NP_056099.3:p.(Gly2697Arg)	NC_000001.10:g.43908598G>A	VUS	1 lab	50181c2097
4:3076653 HTT AGCAG>A	4	3076653	3076657	AGCAG	A	HTT	c.102_105del	NM_001388492.1	NP_001375421.1:p.(Gln34HisfsTer66)	NC_000004.11:g.3076654_3076657del	(Likely) benign	1 lab	501861c024
X:153040442 PLXNB3 G>A	X	153040442	153040442	G	A	PLXNB3	c.4108G>A	NM_001163257.1	NP_001156729.1:p.(Gly1370Ser)	NC_000023.10:g.153040442G>A	(Likely) benign	1 lab	501a35fd34
8:120800652 TAF2 T>A	8	120800652	120800652	T	A	TAF2	c.1719A>T	NM_003184.3	NP_003175.1:p.(Gly573=)	NC_000008.10:g.120800652T>A	(Likely) benign	1 lab	501c1ec2ac
X:24741356 POLA1 G>A	X	24741356	24741356	G	A	POLA1	c.1172G>A	NM_001330360.1	NP_001317289.1:p.(Arg391Gln)	NC_000023.10:g.24741356G>A	VUS	1 lab	501cc73766
1:22155339 HSPG2 A>G	1	22155339	22155339	A	G	HSPG2	c.12229T>C	NM_001291860.1	NP_001278789.1:p.(Cys4077Arg)	NC_000001.10:g.22155339A>G	VUS	1 lab	501ccc5c50
11:1253958 MUC5B G>A	11	1253958	1253958	G	A	MUC5B	c.2023G>A	NM_002458.2	NP_002449.2:p.(Ala675Thr)	NC_000011.9:g.1253958G>A	VUS	1 lab	501d1cd772
1:152277528 FLG G>A	1	152277528	152277528	G	A	FLG	c.9834C>T	NM_002016.1	NP_002007.1:p.(His3278=)	NC_000001.10:g.152277528G>A	(Likely) benign	1 lab	501dea8bcd
11:58189993 OR5B2 C>T	11	58189993	58189993	C	T	OR5B2	c.742G>A	NM_001005566.2	NP_001005566.1:p.(Val248Ile)	NC_000011.9:g.58189993C>T	(Likely) benign	1 lab	501dfbe22a
5:149754537 TCOF1 C>A	5	149754537	149754537	C	A	TCOF1	c.1299C>A	NM_001135243.1	NP_001128715.1:p.(Ala433=)	NC_000005.9:g.149754537C>A	(Likely) benign	1 lab	501e549a9f
4:123663152 BBS12 A>T	4	123663152	123663152	A	T	BBS12	c.105A>T	NM_001178007.1	NP_001171478.1:p.(Ser35=)	NC_000004.11:g.123663152A>T	(Likely) benign	1 lab	501f18481e
12:53042862 KRT2 T>A	12	53042862	53042862	T	A	KRT2	c.886A>T	NM_000423.2	NP_000414.2:p.(Lys296Ter)	NC_000012.11:g.53042862T>A	VUS	1 lab	501fc2615d
9:14776095 FREM1 G>C	9	14776095	14776095	G	C	FREM1	c.4549C>G	NM_144966.5	NP_659403.4:p.(Leu1517Val)	NC_000009.11:g.14776095G>C	VUS	1 lab	50200746c2
8:141034075 TRAPPC9 C>T	8	141034075	141034075	C	T	TRAPPC9	c.2631G>A	NM_001321646.1	NP_001308575.1:p.(Pro877=)	NC_000008.10:g.141034075C>T	(Likely) benign	1 lab	50200cee47
17:40714851 COASY C>T	17	40714851	40714851	C	T	COASY	c.211C>T	NM_025233.6	NP_079509.5:p.(Leu71Phe)	NC_000017.10:g.40714851C>T	VUS	1 lab	5020294d60
17:33507655 UNC45B C>T	17	33507655	33507655	C	T	UNC45B	c.2333C>T	NM_001033576.1	NP_001028748.1:p.(Ala778Val)	NC_000017.10:g.33507655C>T	VUS	1 lab	502124ba72
1:215848318 USH2A T>A	1	215848318	215848318	T	A	USH2A	c.12935A>T	NM_206933.2	NP_996816.2:p.(Asp4312Val)	NC_000001.10:g.215848318T>A	VUS	1 lab	5021f62fb1
2:179552914 TTN C>T	2	179552914	179552914	C	T	TTN	c.32235G>A	NM_001267550.1	NP_001254479.1:p.(Glu10745=)	NC_000002.11:g.179552914C>T	(Likely) benign	1 lab	50222a292b
10:104160222 NFKB2 A>T	10	104160222	104160222	A	T	NFKB2	c.1772A>T	NM_001288724.1	NP_001275653.1:p.(Gln591Leu)	NC_000010.10:g.104160222A>T	(Likely) benign	1 lab	50235bbc19
3:195512028 MUC4 G>A	3	195512028	195512028	G	A	MUC4	c.6423C>T	NM_018406.6	NP_060876.5:p.(Asp2141=)	NC_000003.11:g.195512028G>A	(Likely) benign	1 lab	5026de6cbb
17:29490211 NF1 A>AG	17	29490211	29490213	A	AG	NF1	c.298dup	NM_000267.3	NP_000258.1:p.(Asp100GlyfsTer7)	NC_000017.10:g.29490213dup	(Likely) pathogenic	1 lab	502ae8048a
3:124281895 KALRN G>A	3	124281895	124281895	G	A	KALRN	c.5135G>A	NM_001024660.5	NP_001019831.2:p.(Arg1712Gln)	NC_000003.11:g.124281895G>A	VUS	1 lab	f03028c4fb
18:46860094 DYM A>C	18	46860094	46860094	A	C	DYM	c.620+4T>G	NM_001353214.1	NP_001340143.1:p.?	NC_000018.9:g.46860094A>C	(Likely) benign	1 lab	502c48ad12
15:38591711 SPRED1 A>G	15	38591711	38591711	A	G	SPRED1	c.170A>G	NM_152594.3	NP_689807.1:p.(Asp57Gly)	NC_000015.9:g.38591711A>G	VUS	1 lab	f032c4db92
5:140552498 PCDHB7 G>C	5	140552498	140552498	G	C	PCDHB7	c.82G>C	NM_018940.3	NP_061763.1:p.(Ala28Pro)	NC_000005.9:g.140552498G>C	(Likely) benign	1 lab	50322b494a
19:1004723 GRIN3B C>A	19	1004723	1004723	C	A	GRIN3B	c.1223C>A	NM_138690.2	NP_619635.1:p.(Pro408Gln)	NC_000019.9:g.1004723C>A	VUS	1 lab	503284b320
17:79478060 ACTG1 G>A	17	79478060	79478060	G	A	ACTG1	c.877C>T	NM_001199954.2	NP_001186883.1:p.(Leu293=)	NC_000017.10:g.79478060G>A	(Likely) benign	1 lab	5033d557b1
14:61115728 SIX1 G>C	14	61115728	61115728	G	C	SIX1	c.180C>G	NM_005982.3	NP_005973.1:p.(Arg60=)	NC_000014.8:g.61115728G>C	(Likely) benign	1 lab	503436c374
10:112581453 RBM20 G>A	10	112581453	112581453	G	A	RBM20	c.3076G>A	NM_001134363.1	NP_001127835.1:p.(Glu1026Lys)	NC_000010.10:g.112581453G>A	VUS	1 lab	5034e21cd0
3:118945768 B4GALT4 G>C	3	118945768	118945768	G	C	B4GALT4	c.374C>G	NM_212543.1	NP_997708.1:p.(Ala125Gly)	NC_000003.11:g.118945768G>C	VUS	1 lab	50351987d6
X:54953036 TRO C>T	X	54953036	54953036	C	T	TRO	c.1678C>T	NM_001039705.2	NP_001034794.1:p.(Arg560Cys)	NC_000023.10:g.54953036C>T	VUS	1 lab	50364e2da6
1:161518224 FCGR3A T>C	1	161518224	161518224	T	C	FCGR3A	c.621A>G	NM_000569.7	NP_000560.6:p.(Leu207=)	NC_000001.10:g.161518224T>C	(Likely) benign	1 lab	50371137c5
15:72648740 HEXA G>A	15	72648740	72648740	G	A	HEXA	c.379+126C>T	NM_001318825.1	NP_001305754.1:p.?	NC_000015.9:g.72648740G>A	(Likely) benign	1 lab	5038543007
1:220326692 RAB3GAP2 G>A	1	220326692	220326692	G	A	RAB3GAP2	c.3702C>T	NM_012414.3	NP_036546.2:p.(Val1234=)	NC_000001.10:g.220326692G>A	(Likely) benign	1 lab	503c41521e
11:6648593 DCHS1 A>G	11	6648593	6648593	A	G	DCHS1	c.5677T>C	NM_003737.4	NP_003728.1:p.(Tyr1893His)	NC_000011.9:g.6648593A>G	VUS	1 lab	f03352ec27
9:79933309 VPS13A A>G	9	79933309	79933309	A	G	VPS13A	c.5115A>G	NM_033305.2	NP_150648.2:p.(Glu1705=)	NC_000009.11:g.79933309A>G	(Likely) benign	1 lab	503eb6de81
16:2138290 TSC2 TGCCCGGCTCCGCCACATC>T	16	2138290	2138308	TGCCCGGCTCCGCCACATC	T	TSC2	c.5224_5241del	NM_000548.5	NP_000539.2:p.(Ala1742_Ile1747del)	NC_000016.9:g.2138291_2138308del	(Likely) pathogenic	1 lab	503efa16d5
5:16877739 MYO10 G>A	5	16877739	16877739	G	A	MYO10	c.99C>T	NM_012334.3	NP_036466.2:p.(Val33=)	NC_000005.9:g.16877739G>A	(Likely) benign	1 lab	503f313779
X:24329865 SUPT20HL2 G>A	X	24329865	24329865	G	A	SUPT20HL2	c.1646C>T	NM_001136233.2	NP_001129705.2:p.(Ala549Val)	NC_000023.10:g.24329865G>A	(Likely) benign	1 lab	503f9c8ba9
5:68737454 MARVELD2 G>A	5	68737454	68737454	G	A	MARVELD2	c.1650G>A	NM_001038603.2	NP_001033692.2:p.(Met550Ile)	NC_000005.9:g.68737454G>A	VUS	1 lab	5040476ce6
2:179519478 TTN G>A	2	179519478	179519478	G	A	TTN	c.38200C>T	NM_001267550.1	NP_001254479.1:p.(Pro12734Ser)	NC_000002.11:g.179519478G>A	VUS	1 lab	5041b46ede
6:143091047 HIVEP2 C>T	6	143091047	143091047	C	T	HIVEP2	c.4829G>A	NM_006734.3	NP_006725.3:p.(Arg1610His)	NC_000006.11:g.143091047C>T	(Likely) benign	1 lab	50424444ef
5:67522713 PIK3R1 G>A	5	67522713	67522713	G	A	PIK3R1	c.210G>A	NM_181523.2	NP_852664.1:p.(Pro70=)	NC_000005.9:g.67522713G>A	(Likely) benign	1 lab	5042e67d98
11:78433880 TENM4 G>A	11	78433880	78433880	G	A	TENM4	c.3633C>T	NM_001098816.2	NP_001092286.2:p.(Arg1211=)	NC_000011.9:g.78433880G>A	(Likely) benign	1 lab	5045cf53a6
16:88552406 ZFPM1 G>A	16	88552406	88552406	G	A	ZFPM1	c.100G>A	NM_153813.3	NP_722520.2:p.(Glu34Lys)	NC_000016.9:g.88552406G>A	(Likely) benign	1 lab	504672b6af
X:153033110 PLXNB3 C>T	X	153033110	153033110	C	T	PLXNB3	c.897C>T	NM_001163257.1	NP_001156729.1:p.(Tyr299=)	NC_000023.10:g.153033110C>T	(Likely) benign	1 lab	5048af686d
2:233712242 GIGYF2 G>A	2	233712242	233712242	G	A	GIGYF2	c.3645G>A	NM_015575.3	NP_056390.2:p.(Gln1215=)	NC_000002.11:g.233712242G>A	(Likely) benign	1 lab	5049382b05
20:3870020 PANK2 G>A	20	3870020	3870020	G	A	PANK2	c.273G>A	NM_153638.2	NP_705902.2:p.(Pro91=)	NC_000020.10:g.3870020G>A	(Likely) benign	1 lab	504943d7aa
17:41251882 BRCA1 T>C	17	41251882	41251882	T	C	BRCA1	c.457A>G	NM_007294.3	NP_009225.1:p.(Ser153Gly)	NC_000017.10:g.41251882T>C	(Likely) benign	1 lab	504a1040d1
18:44140036 LOXHD1 A>C	18	44140036	44140036	A	C	LOXHD1	c.3061+10T>G	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44140036A>C	(Likely) benign	1 lab	504a7a354c
12:21628422 RECQL T>C	12	21628422	21628422	T	C	RECQL	c.1196A>G	NM_002907.4	NP_002898.2:p.(Tyr399Cys)	NC_000012.11:g.21628422T>C	VUS	1 lab	504b327967
5:149314259 PDE6A A>G	5	149314259	149314259	A	G	PDE6A	c.497T>C	NM_000440.2	NP_000431.2:p.(Val166Ala)	NC_000005.9:g.149314259A>G	VUS	1 lab	504d42d7d5
15:33445626 FMN1 G>A	15	33445626	33445626	G	A	FMN1	c.1490C>T	NM_001277313.1	NP_001264242.1:p.(Pro497Leu)	NC_000015.9:g.33445626G>A	(Likely) benign	1 lab	504e3d6fef
7:107594134 LAMB1 G>C	7	107594134	107594134	G	C	LAMB1	c.2920C>G	NM_002291.2	NP_002282.2:p.(Gln974Glu)	NC_000007.13:g.107594134G>C	(Likely) benign	1 lab	504f3fe901
19:55263902 KIR2DL3 TTC>T	19	55263902	55263906	TTC	T	KIR2DL3	c.960_961del	NM_015868.3	NP_056952.2:p.(Gln321GlufsTer19)	NC_000019.9:g.55263905_55263906del	VUS	1 lab	5050fde390
X:134166592 RTL8C G>A	X	134166592	134166592	G	A	RTL8C	c.179G>A	NM_001078171.1	NP_001071639.1:p.(Ser60Asn)	NC_000023.10:g.134166592G>A	VUS	1 lab	5052fe7dc5
7:42116397 GLI3 C>A	7	42116397	42116397	C	A	GLI3	c.427G>T	NM_000168.5	NP_000159.3:p.(Glu143Ter)	NC_000007.13:g.42116397C>A	(Likely) pathogenic	1 lab	5053a468db
20:50406573 SALL4 T>C	20	50406573	50406573	T	C	SALL4	c.2449A>G	NM_020436.3	NP_065169.1:p.(Thr817Ala)	NC_000020.10:g.50406573T>C	(Likely) benign	1 lab	505ace095b
9:133069742 HMCN2 G>T	9	133069742	133069742	G	T	HMCN2	c.2097G>T	NM_001291815.2	NP_001278744.1:p.(Ser699=)	NC_000009.11:g.133069742G>T	(Likely) benign	1 lab	505bbb6b02
10:54011345 PRKG1 G>A	10	54011345	54011345	G	A	PRKG1	c.1047G>A	NM_001098512.3	NP_001091982.1:p.(Ala349=)	NC_000010.10:g.54011345G>A	(Likely) benign	1 lab	505d7e1e05
9:117836090 TNC G>T	9	117836090	117836090	G	T	TNC	c.3006C>A	NM_002160.3	NP_002151.2:p.(Thr1002=)	NC_000009.11:g.117836090G>T	(Likely) benign	1 lab	505da8342b
3:12626428 RAF1 T>C	3	12626428	12626428	T	C	RAF1	c.1721A>G	NM_002880.3	NP_002871.1:p.(Tyr574Cys)	NC_000003.11:g.12626428T>C	VUS	1 lab	505e594152
21:27284138 APP G>A	21	27284138	27284138	G	A	APP	c.1824C>T	NM_000484.3	NP_000475.1:p.(Pro608=)	NC_000021.8:g.27284138G>A	(Likely) benign	1 lab	505f4c256a
17:80040558 FASN C>T	17	80040558	80040558	C	T	FASN	c.5768-4G>A	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80040558C>T	(Likely) benign	1 lab	505fe988df
1:11087270 MASP2 C>G	1	11087270	11087270	C	G	MASP2	c.1733G>C	NM_006610.3	NP_006601.2:p.(Arg578Thr)	NC_000001.10:g.11087270C>G	(Likely) benign	1 lab	5060cb5e6c
6:31595567 PRRC2A C>T	6	31595567	31595567	C	T	PRRC2A	c.1316C>T	NM_004638.3	NP_004629.3:p.(Pro439Leu)	NC_000006.11:g.31595567C>T	(Likely) benign	1 lab	5062bba788
X:34149176 FAM47A C>G	X	34149176	34149176	C	G	FAM47A	c.1220G>C	NM_203408.3	NP_981953.2:p.(Gly407Ala)	NC_000023.10:g.34149176C>G	(Likely) benign	1 lab	5065b0bad1
1:2985860 PRDM16 A>G	1	2985860	2985860	A	G	PRDM16	c.37A>G	NM_022114.4	NP_071397.3:p.(Ser13Gly)	NC_000001.10:g.2985860A>G	VUS	1 lab	f03ba408e6
X:153172102 AVPR2 C>T	X	153172102	153172102	C	T	AVPR2	c.1036C>T	NM_000054.5	NP_000045.1:p.(Arg346Cys)	NC_000023.10:g.153172102C>T	(Likely) benign	1 lab	5066599c32
4:17506013 QDPR G>A	4	17506013	17506013	G	A	QDPR	c.284C>T	NM_000320.3	NP_000311.2:p.(Ala95Val)	NC_000004.11:g.17506013G>A	(Likely) benign	1 lab	f03c07e6e3
6:76660457 IMPG1 T>C	6	76660457	76660457	T	C	IMPG1	c.1646A>G	NM_001563.3	NP_001554.2:p.(Asp549Gly)	NC_000006.11:g.76660457T>C	VUS	1 lab	5066e28ccf
14:68244858 ZFYVE26 A>G	14	68244858	68244858	A	G	ZFYVE26	c.4782T>C	NM_015346.3	NP_056161.2:p.(His1594=)	NC_000014.8:g.68244858A>G	(Likely) benign	1 lab	5067ffd74f
5:35010160 AGXT2 A>G	5	35010160	35010160	A	G	AGXT2	c.1283T>C	NM_031900.4	NP_114106.1:p.(Val428Ala)	NC_000005.9:g.35010160A>G	VUS	1 lab	506c7ad7a2
X:57021021 SPIN3 A>C	X	57021021	57021021	A	C	SPIN3	c.360T>G	NM_001010862.3	NP_001010862.2:p.(Ser120Arg)	NC_000023.10:g.57021021A>C	(Likely) benign	1 lab	506ebb555b
19:17886835 FCHO1 C>T	19	17886835	17886835	C	T	FCHO1	c.1047C>T	NM_001161357.1	NP_001154829.1:p.(Phe349=)	NC_000019.9:g.17886835C>T	(Likely) benign	1 lab	506ec28782
19:17844187 MAP1S G>A	19	17844187	17844187	G	A	MAP1S	c.2896G>A	NM_001308363.1	NP_001295292.1:p.(Val966Ile)	NC_000019.9:g.17844187G>A	(Likely) benign	1 lab	506f15b863
16:75589777 TMEM231 G>A	16	75589777	75589777	G	A	TMEM231	c.234C>T	NM_001077418.3	NP_001070886.1:p.(Asp78=)	NC_000016.9:g.75589777G>A	(Likely) benign	1 lab	506faac59c
2:158630605 ACVR1 C>G	2	158630605	158630605	C	G	ACVR1	c.638G>C	NM_001105.4	NP_001096.1:p.(Cys213Ser)	NC_000002.11:g.158630605C>G	VUS	1 lab	50727968f0
22:32206566 DEPDC5 T>C	22	32206566	32206566	T	C	DEPDC5	c.1384T>C	NM_001242896.2	NP_001229825.1:p.(Tyr462His)	NC_000022.10:g.32206566T>C	VUS	1 lab	5075631851
1:220387267 RAB3GAP2 C>G	1	220387267	220387267	C	G	RAB3GAP2	c.235G>C	NM_012414.3	NP_036546.2:p.(Val79Leu)	NC_000001.10:g.220387267C>G	(Likely) benign	1 lab	50765db52e
16:57938727 CNGB1 GC>G	16	57938727	57938733	GC	G	CNGB1	c.2544del	NM_001297.5	NP_001288.3:p.(Leu849CysfsTer15)	NC_000016.9:g.57938733del	(Likely) pathogenic	1 lab	5079d63d45
15:42109861 MAPKBP1 C>T	15	42109861	42109861	C	T	MAPKBP1	c.1850C>T	NM_001128608.1	NP_001122080.1:p.(Thr617Met)	NC_000015.9:g.42109861C>T	VUS	1 lab	507ac2bf6b
19:51918688 SIGLEC10 C>T	19	51918688	51918688	C	T	SIGLEC10	c.1077G>A	NM_033130.5	NP_149121.2:p.(Leu359=)	NC_000019.9:g.51918688C>T	(Likely) benign	1 lab	507d70a277
10:88452300 LDB3 C>A	10	88452300	88452300	C	A	LDB3	c.1072C>A	NM_001171610.1	NP_001165081.1:p.(Pro358Thr)	NC_000010.10:g.88452300C>A	VUS	1 lab	507f9bc394
2:101019051 CHST10 T>C	2	101019051	101019051	T	C	CHST10	c.167A>G	NM_004854.4	NP_004845.1:p.(Glu56Gly)	NC_000002.11:g.101019051T>C	VUS	1 lab	5082349df9
19:5144161 KDM4B G>A	19	5144161	5144161	G	A	KDM4B	c.2734G>A	NM_015015.3	NP_055830.1:p.(Ala912Thr)	NC_000019.9:g.5144161G>A	(Likely) benign	1 lab	5084502072
1:3322202 PRDM16 G>A	1	3322202	3322202	G	A	PRDM16	c.1176G>A	NM_022114.3	NP_071397.3:p.(Lys392=)	NC_000001.10:g.3322202G>A	(Likely) benign	1 lab	5084f50748
11:607394 PHRF1 G>C	11	607394	607394	G	C	PHRF1	c.1935G>C	NM_020901.3	NP_065952.2:p.(Ala645=)	NC_000011.9:g.607394G>C	(Likely) benign	1 lab	508583778c
20:44054421 PIGT G>T	20	44054421	44054421	G	T	PIGT	c.1692G>T	NM_015937.5	NP_057021.2:p.(Arg564=)	NC_000020.10:g.44054421G>T	(Likely) benign	1 lab	50862a7c68
X:85128074 CHM C>T	X	85128074	85128074	C	T	CHM	c.1753G>A	NM_000390.2	NP_000381.1:p.(Asp585Asn)	NC_000023.10:g.85128074C>T	VUS	1 lab	508791d38a
1:197111915 ASPM T>C	1	197111915	197111915	T	C	ASPM	c.1467A>G	NM_018136.4	NP_060606.3:p.(Arg489=)	NC_000001.10:g.197111915T>C	(Likely) benign	1 lab	508878a8b3
11:94212837 MRE11 T>G	11	94212837	94212837	T	G	MRE11	c.402+3A>C	NM_001330347.1	NP_001317276.1:p.?	NC_000011.9:g.94212837T>G	VUS	1 lab	508bbe7b7e
8:28574530 EXTL3 G>A	8	28574530	28574530	G	A	EXTL3	c.954G>A	NM_001440.3	NP_001431.1:p.(Pro318=)	NC_000008.10:g.28574530G>A	(Likely) benign	1 lab	508bc30b7a
11:72946331 P2RY2 G>A	11	72946331	72946331	G	A	P2RY2	c.1127G>A	NM_176072.2	NP_788086.2:p.(Arg376Gln)	NC_000011.9:g.72946331G>A	(Likely) benign	1 lab	508c240853
19:37904784 ZNF569 C>T	19	37904784	37904784	C	T	ZNF569	c.299G>A	NM_001330482.1	NP_001317411.1:p.(Arg100Lys)	NC_000019.9:g.37904784C>T	VUS	1 lab	508c4bd7b9
4:128816204 PLK4 C>T	4	128816204	128816204	C	T	PLK4	c.2659C>T	NM_014264.4	NP_055079.3:p.(Leu887Phe)	NC_000004.11:g.128816204C>T	VUS	1 lab	508cbee143
17:43507372 ARHGAP27 C>A	17	43507372	43507372	C	A	ARHGAP27	c.274G>T	NM_001282290.1	NP_001269219.1:p.(Ala92Ser)	NC_000017.10:g.43507372C>A	VUS	1 lab	508e6d3699
20:45354876 SLC2A10 C>T	20	45354876	45354876	C	T	SLC2A10	c.1201C>T	NM_030777.3	NP_110404.1:p.(Pro401Ser)	NC_000020.10:g.45354876C>T	(Likely) benign	1 lab	50909329a9
15:85327880 ZNF592 G>A	15	85327880	85327880	G	A	ZNF592	c.1974G>A	NM_014630.2	NP_055445.2:p.(Ala658=)	NC_000015.9:g.85327880G>A	VUS	1 lab	5090c6d77a
12:109998854 MMAB G>GC	12	109998854	109998857	G	GC	MMAB	c.574dup	NM_052845.3	NP_443077.1:p.(Ala192GlyfsTer27)	NC_000012.11:g.109998857dup	(Likely) pathogenic	1 lab	5092a47d1b
6:3225581 TUBB2B C>T	6	3225581	3225581	C	T	TUBB2B	c.742G>A	NM_178012.4	NP_821080.1:p.(Ala248Thr)	NC_000006.11:g.3225581C>T	(Likely) benign	1 lab	5093d81af8
17:78291022 RNF213 C>T	17	78291022	78291022	C	T	RNF213	c.2846C>T	NM_001256071.2	NP_001243000.2:p.(Ala949Val)	NC_000017.10:g.78291022C>T	(Likely) benign	1 lab	50957fbf31
X:152913627 DUSP9 C>T	X	152913627	152913627	C	T	DUSP9	c.220C>T	NM_001318503.2	NP_001305432.1:p.(Pro74Ser)	NC_000023.10:g.152913627C>T	(Likely) benign	1 lab	5096d81a20
1:161790920 ATF6 G>T	1	161790920	161790920	G	T	ATF6	c.1156G>T	NM_007348.3	NP_031374.2:p.(Ala386Ser)	NC_000001.10:g.161790920G>T	VUS	1 lab	509a22540e
12:124414260 DNAH10 G>A	12	124414260	124414260	G	A	DNAH10	c.12212G>A	NM_207437.3	NP_997320.2:p.(Arg4071Gln)	NC_000012.11:g.124414260G>A	(Likely) benign	1 lab	509a7f19ea
2:1921083 MYT1L G>A	2	1921083	1921083	G	A	MYT1L	c.1506C>T	NM_015025.3	NP_055840.2:p.(Ser502=)	NC_000002.11:g.1921083G>A	(Likely) benign	1 lab	509b289554
16:53730097 RPGRIP1L G>A	16	53730097	53730097	G	A	RPGRIP1L	c.196C>T	NM_015272.4	NP_056087.2:p.(Gln66Ter)	NC_000016.9:g.53730097G>A	(Likely) pathogenic	1 lab	509bfd23a0
X:153129468 L1CAM G>A	X	153129468	153129468	G	A	L1CAM	c.3327C>T	NM_001278116.1	NP_001265045.1:p.(Arg1109=)	NC_000023.10:g.153129468G>A	(Likely) benign	1 lab	509dde19cb
5:176638530 NSD1 A>AAG	5	176638530	176638532	A	AAG	NSD1	c.3131_3132insGA	NM_022455.4	NP_071900.2:p.(Asn1044LysfsTer6)	NC_000005.9:g.176638531_176638532insGA	(Likely) pathogenic	1 lab	509e5801ce
22:19753960 TBX1 C>G	22	19753960	19753960	C	G	TBX1	c.1058C>G	NM_080647.1	NP_542378.1:p.(Ala353Gly)	NC_000022.10:g.19753960C>G	(Likely) benign	1 lab	509f899f5e
6:133834022 EYA4 C>T	6	133834022	133834022	C	T	EYA4	c.1347C>T	NM_004100.4	NP_004091.3:p.(Tyr449=)	NC_000006.11:g.133834022C>T	(Likely) benign	1 lab	50a0de8fba
3:52387201 DNAH1 C>T	3	52387201	52387201	C	T	DNAH1	c.3110C>T	NM_015512.4	NP_056327.4:p.(Ser1037Leu)	NC_000003.11:g.52387201C>T	VUS	1 lab	50a1cde0f0
9:119460488 TRIM32 T>C	9	119460488	119460488	T	C	TRIM32	c.467T>C	NM_012210.3	NP_036342.2:p.(Leu156Pro)	NC_000009.11:g.119460488T>C	VUS	1 lab	50a2173284
13:23907404 SACS T>C	13	23907404	23907404	T	C	SACS	c.10611A>G	NM_014363.5	NP_055178.3:p.(Ala3537=)	NC_000013.10:g.23907404T>C	(Likely) benign	1 lab	50a41fec12
6:144852227 UTRN T>C	6	144852227	144852227	T	C	UTRN	c.5946T>C	NM_007124.2	NP_009055.2:p.(His1982=)	NC_000006.11:g.144852227T>C	(Likely) benign	1 lab	50a5472795
14:105416201 AHNAK2 G>T	14	105416201	105416201	G	T	AHNAK2	c.5587C>A	NM_138420.3	NP_612429.2:p.(Gln1863Lys)	NC_000014.8:g.105416201G>T	(Likely) benign	1 lab	50a5612ddd
17:38787184 SMARCE1 G>GA	17	38787184	38787191	G	GA	SMARCE1	c.817-9dup	NM_003079.4	NP_003070.3:p.?	NC_000017.10:g.38787191dup	(Likely) benign	1 lab	50a5613ec0
8:38110215 DDHD2 T>C	8	38110215	38110215	T	C	DDHD2	c.1618-25T>C	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38110215T>C	(Likely) benign	1 lab	50a57955fa
17:76450653 DNAH17 G>A	17	76450653	76450653	G	A	DNAH17	c.10305C>T	NM_173628.3	NP_775899.3:p.(Thr3435=)	NC_000017.10:g.76450653G>A	(Likely) benign	1 lab	50a9222ff7
1:209799145 LAMB3 G>GC	1	209799145	209799146	G	GC	LAMB3	c.1823dup	NM_001017402.2	NP_001017402.1:p.(Ser608ArgfsTer23)	NC_000001.10:g.209799146dup	(Likely) pathogenic	1 lab	f03f647754
15:62219512 VPS13C A>G	15	62219512	62219512	A	G	VPS13C	c.6294T>C	NM_001018088.2	NP_001018098.1:p.(Ser2098=)	NC_000015.9:g.62219512A>G	(Likely) benign	1 lab	50acdbcb3f
7:113519719 PPP1R3A A>T	7	113519719	113519719	A	T	PPP1R3A	c.1428T>A	NM_002711.4	NP_002702.2:p.(Asn476Lys)	NC_000007.13:g.113519719A>T	(Likely) benign	1 lab	f0447ef123
1:116943843 ATP1A1 G>A	1	116943843	116943843	G	A	ATP1A1	c.2810G>A	NM_001160233.2	NP_001153705.1:p.(Cys937Tyr)	NC_000001.10:g.116943843G>A	VUS	1 lab	f0453baa07
7:23030690 HYCC1 G>A	7	23030690	23030690	G	A	HYCC1	c.41C>T	NM_001363466.1	NP_001350395.1:p.(Ser14Leu)	NC_000007.13:g.23030690G>A	VUS	1 lab	50b11b758f
3:45518038 LARS2 G>C	3	45518038	45518038	G	C	LARS2	c.937G>C	NM_015340.4	NP_056155.1:p.(Ala313Pro)	NC_000003.11:g.45518038G>C	VUS	1 lab	50b31a3e9c
9:131743657 NUP188 C>T	9	131743657	131743657	C	T	NUP188	c.1504C>T	NM_015354.3	NP_056169.1:p.(Leu502Phe)	NC_000009.11:g.131743657C>T	VUS	1 lab	f04b9f1ef5
11:35287311 SLC1A2 G>C	11	35287311	35287311	G	C	SLC1A2	c.1422-6C>G	NM_004171.3	NP_004162.2:p.?	NC_000011.9:g.35287311G>C	VUS	1 lab	50b43bbffc
3:129325009 PLXND1 G>T	3	129325009	129325009	G	T	PLXND1	c.474C>A	NM_015103.2	NP_055918.2:p.(Ala158=)	NC_000003.11:g.129325009G>T	(Likely) benign	1 lab	50b5eb3833
X:153141253 L1CAM G>A	X	153141253	153141253	G	A	L1CAM	c.39C>T	NM_001278116.1	NP_001265045.1:p.(Leu13=)	NC_000023.10:g.153141253G>A	(Likely) benign	1 lab	50b5eca4a8
2:136561517 LCT T>C	2	136561517	136561517	T	C	LCT	c.4646A>G	NM_002299.2	NP_002290.2:p.(Tyr1549Cys)	NC_000002.11:g.136561517T>C	(Likely) benign	1 lab	50b5f9c28f
X:128884518 XPNPEP2 C>A	X	128884518	128884518	C	A	XPNPEP2	c.712C>A	NM_003399.5	NP_003390.4:p.(Leu238Ile)	NC_000023.10:g.128884518C>A	(Likely) benign	1 lab	50b9465af8
2:196756535 DNAH7 GAA>G	2	196756535	196756546	GAA	G	DNAH7	c.4897-9_4897-8del	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196756545_196756546del	(Likely) benign	1 lab	50ba19fae0
16:87743034 KLHDC4 C>G	16	87743034	87743034	C	G	KLHDC4	c.1284G>C	NM_017566.4	NP_060036.2:p.(Gly428=)	NC_000016.9:g.87743034C>G	(Likely) benign	1 lab	50bb3fccef
9:133960907 LAMC3 G>A	9	133960907	133960907	G	A	LAMC3	c.4031-4G>A	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133960907G>A	(Likely) benign	1 lab	50bce1cb9c
2:38301938 CYP1B1 G>A	2	38301938	38301938	G	A	CYP1B1	c.594C>T	NM_000104.3	NP_000095.2:p.(Val198=)	NC_000002.11:g.38301938G>A	(Likely) benign	1 lab	50bd1b57e3
6:33143785 COL11A2 C>T	6	33143785	33143785	C	T	COL11A2	c.2268+8G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33143785C>T	(Likely) benign	1 lab	50bd64ab47
5:137518907 KIF20A G>A	5	137518907	137518907	G	A	KIF20A	c.882G>A	NM_005733.3	NP_005724.1:p.(Pro294=)	NC_000005.9:g.137518907G>A	(Likely) benign	1 lab	50be159a7b
X:123040865 XIAP G>A	X	123040865	123040865	G	A	XIAP	c.1328G>A	NM_001167.3	NP_001158.2:p.(Arg443His)	NC_000023.10:g.123040865G>A	VUS	1 lab	50bf7dd402
5:13922243 DNAH5 C>T	5	13922243	13922243	C	T	DNAH5	c.633G>A	NM_001369.2	NP_001360.1:p.(Ser211=)	NC_000005.9:g.13922243C>T	VUS	1 lab	50bf85e0f9
9:35705760 TLN1 G>A	9	35705760	35705760	G	A	TLN1	c.5600C>T	NM_006289.4	NP_006280.3:p.(Thr1867Ile)	NC_000009.11:g.35705760G>A	VUS	1 lab	50bf98a1e9
4:74347531 AFM G>GT	4	74347531	74347539	G	GT	AFM	c.47dup	NM_001133.2	NP_001124.1:p.(Leu16PhefsTer3)	NC_000004.11:g.74347539dup	VUS	1 lab	50c0e7cff9
5:39311320 C9 T>C	5	39311320	39311320	T	C	C9	c.1030A>G	NM_001737.3	NP_001728.1:p.(Thr344Ala)	NC_000005.9:g.39311320T>C	VUS	1 lab	50c212a687
1:216348689 USH2A G>A	1	216348689	216348689	G	A	USH2A	c.4532C>T	NM_206933.2	NP_996816.2:p.(Ala1511Val)	NC_000001.10:g.216348689G>A	VUS	1 lab	50c324b8d7
14:105243088 AKT1 C>G	14	105243088	105243088	C	G	AKT1	c.195G>C	NM_005163.2	NP_005154.2:p.(Thr65=)	NC_000014.8:g.105243088C>G	(Likely) benign	1 lab	50c559862b
X:37028014 FAM47C C>T	X	37028014	37028014	C	T	FAM47C	c.1531C>T	NM_001013736.2	NP_001013758.1:p.(Arg511Cys)	NC_000023.10:g.37028014C>T	(Likely) benign	1 lab	50c62b67d1
15:62253983 VPS13C C>T	15	62253983	62253983	C	T	VPS13C	c.3713G>A	NM_001018088.2	NP_001018098.1:p.(Arg1238His)	NC_000015.9:g.62253983C>T	VUS	1 lab	50c6c7d29b
17:35445977 ACACA C>T	17	35445977	35445977	C	T	ACACA	c.6813G>A	NM_198839.2	NP_942136.1:p.(Ala2271=)	NC_000017.10:g.35445977C>T	(Likely) benign	1 lab	50c7077d8b
10:124377766 DMBT1 G>A	10	124377766	124377766	G	A	DMBT1	c.4738G>A	NM_007329.2	NP_015568.2:p.(Gly1580Arg)	NC_000010.10:g.124377766G>A	(Likely) benign	1 lab	50c7658937
6:129794472 LAMA2 G>T	6	129794472	129794472	G	T	LAMA2	c.7414G>T	NM_000426.3	NP_000417.2:p.(Gly2472Cys)	NC_000006.11:g.129794472G>T	VUS	1 lab	50c80fe1f1
1:228556454 OBSCN G>A	1	228556454	228556454	G	A	OBSCN	c.22670G>A	NM_001271223.2	NP_001258152.2:p.(Arg7557Gln)	NC_000001.10:g.228556454G>A	VUS	1 lab	50c902844a
X:108912314 ACSL4 T>A	X	108912314	108912314	T	A	ACSL4	c.1214A>T	NM_022977.2	NP_075266.1:p.(Asp405Val)	NC_000023.10:g.108912314T>A	VUS	1 lab	50c91e3883
10:5043747 AKR1C2 C>G	10	5043747	5043747	C	G	AKR1C2	c.211G>C	NM_001354.5	NP_001345.1:p.(Asp71His)	NC_000010.10:g.5043747C>G	VUS	1 lab	50ca97ab01
X:110653363 DCX C>T	X	110653363	110653363	C	T	DCX	c.507G>A	NM_000555.3	NP_000546.2:p.(Thr169=)	NC_000023.10:g.110653363C>T	(Likely) benign	1 lab	50cac51788
2:32832648 BIRC6 C>A	2	32832648	32832648	C	A	BIRC6	c.14197C>A	NM_016252.3	NP_057336.3:p.(Gln4733Lys)	NC_000002.11:g.32832648C>A	VUS	1 lab	50ce957594
17:29685599 NF1 A>AT	17	29685599	29685600	A	AT	NF1	c.8010dup	NM_000267.3	NP_000258.1:p.(Glu2671Ter)	NC_000017.10:g.29685600dup	(Likely) pathogenic	1 lab	50d06ac794
15:28228593 OCA2 G>T	15	28228593	28228593	G	T	OCA2	c.1401C>A	NM_000275.2	NP_000266.2:p.(Val467=)	NC_000015.9:g.28228593G>T	(Likely) benign	1 lab	50d0f13967
17:36486932 GPR179 C>T	17	36486932	36486932	C	T	GPR179	c.2520G>A	NM_001004334.3	NP_001004334.3:p.(Ser840=)	NC_000017.10:g.36486932C>T	(Likely) benign	1 lab	50d0f2b1b8
1:236890968 ACTN2 G>A	1	236890968	236890968	G	A	ACTN2	c.537-10G>A	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236890968G>A	VUS	1 lab	50d1710d94
5:150924539 FAT2 C>T	5	150924539	150924539	C	T	FAT2	c.6149G>A	NM_001447.2	NP_001438.1:p.(Arg2050Gln)	NC_000005.9:g.150924539C>T	VUS	1 lab	50d37d64f7
X:71426078 ERCC6L T>C	X	71426078	71426078	T	C	ERCC6L	c.2539A>G	NM_017669.4	NP_060139.2:p.(Thr847Ala)	NC_000023.10:g.71426078T>C	(Likely) benign	1 lab	50d4186b94
5:1420711 SLC6A3 A>G	5	1420711	1420711	A	G	SLC6A3	c.900T>C	NM_001044.4	NP_001035.1:p.(Val300=)	NC_000005.9:g.1420711A>G	(Likely) benign	1 lab	50d42c009b
X:32456504 DMD G>A	X	32456504	32456504	G	A	DMD	c.3925C>T	NM_004006.3	NP_003997.2:p.(Leu1309Phe)	NC_000023.10:g.32456504G>A	VUS	1 lab	f054ebc1de
12:111856071 SH2B3 T>C	12	111856071	111856071	T	C	SH2B3	c.122T>C	NM_005475.2	NP_005466.1:p.(Leu41Pro)	NC_000012.11:g.111856071T>C	VUS	1 lab	50d918c512
11:6655462 DCHS1 C>T	11	6655462	6655462	C	T	DCHS1				NC_000011.9:g.6655462C>T	VUS	1 lab	50d9a6d6f1
11:607687 PHRF1 A>G	11	607687	607687	A	G	PHRF1	c.2228A>G	NM_020901.3	NP_065952.2:p.(His743Arg)	NC_000011.9:g.607687A>G	(Likely) benign	1 lab	50d9b4df1b
11:34153739 NAT10 A>G	11	34153739	34153739	A	G	NAT10	c.1588A>G	NM_024662.2	NP_078938.2:p.(Met530Val)	NC_000011.9:g.34153739A>G	(Likely) benign	1 lab	50da256857
15:42480042 VPS39 C>T	15	42480042	42480042	C	T	VPS39	c.388G>A	NM_001301138.1	NP_001288067.1:p.(Gly130Ser)	NC_000015.9:g.42480042C>T	VUS	1 lab	50daab877b
9:712667 KANK1 C>G	9	712667	712667	C	G	KANK1	c.1901C>G	NM_015158.5	NP_055973.2:p.(Ser634Cys)	NC_000009.11:g.712667C>G	VUS	1 lab	f058ff79c3
10:61815491 ANK3 A>G	10	61815491	61815491	A	G	ANK3	c.12990T>C	NM_020987.5	NP_066267.2:p.(Ser4330=)	NC_000010.10:g.61815491A>G	(Likely) benign	1 lab	50db04aaa7
14:50094784 DNAAF2 T>C	14	50094784	50094784	T	C	DNAAF2	c.1953A>G	NM_018139.2	NP_060609.2:p.(Pro651=)	NC_000014.8:g.50094784T>C	(Likely) benign	1 lab	50db334258
1:161479860 FCGR2A C>T	1	161479860	161479860	C	T	FCGR2A	c.615C>T	NM_001136219.1	NP_001129691.1:p.(Val205=)	NC_000001.10:g.161479860C>T	(Likely) benign	1 lab	50dc9bf426
1:1423234 ATAD3B C>T	1	1423234	1423234	C	T	ATAD3B	c.1215-9C>T	NM_031921.5	NP_114127.3:p.?	NC_000001.10:g.1423234C>T	(Likely) benign	1 lab	50dcc215d8
1:27100179 ARID1A C>T	1	27100179	27100179	C	T	ARID1A	c.3975C>T	NM_006015.4	NP_006006.3:p.(Pro1325=)	NC_000001.10:g.27100179C>T	(Likely) benign	1 lab	50dda0f1fc
2:179605402 TTN T>C	2	179605402	179605402	T	C	TTN	c.12558A>G	NM_001267550.1	NP_001254479.1:p.(Pro4186=)	NC_000002.11:g.179605402T>C	(Likely) benign	1 lab	50ddbcdf37
X:102004373 GPRASP3 G>T	X	102004373	102004373	G	T	GPRASP3	c.450G>T	NM_001142524.2	NP_001135996.1:p.(Glu150Asp)	NC_000023.10:g.102004373G>T	(Likely) benign	1 lab	50df851aba
20:30898346 KIF3B G>A	20	30898346	30898346	G	A	KIF3B	c.766G>A	NM_004798.4	NP_004789.1:p.(Gly256Ser)	NC_000020.10:g.30898346G>A	VUS	1 lab	f059252d0b
6:2766440 WRNIP1 A>T	6	2766440	2766440	A	T	WRNIP1	c.584A>T	NM_020135.2	NP_064520.2:p.(Glu195Val)	NC_000006.11:g.2766440A>T	VUS	1 lab	50dfcb932e
4:128842709 MFSD8 TA>T	4	128842709	128842710	TA	T	MFSD8	c.1319del	NM_001371596.2	NP_001358525.1:p.(Leu440HisfsTer6)	NC_000004.11:g.128842710del	(Likely) pathogenic	1 lab	50e06c6e7a
X:48752704 TIMM17B C>A	X	48752704	48752704	C	A	TIMM17B	c.207G>T	NM_001167947.2	NP_001161419.1:p.(Glu69Asp)	NC_000023.10:g.48752704C>A	(Likely) benign	1 lab	50e077e96c
12:48185676 HDAC7 C>T	12	48185676	48185676	C	T	HDAC7	c.1739G>A	NM_001308090.1	NP_001295019.1:p.(Arg580Gln)	NC_000012.11:g.48185676C>T	VUS	1 lab	50e0f2a339
12:48390390 COL2A1 C>T	12	48390390	48390390	C	T	COL2A1	c.550G>A	NM_001844.4	NP_001835.3:p.(Ala184Thr)	NC_000012.11:g.48390390C>T	(Likely) benign	1 lab	50e1019337
6:41884544 MED20 C>T	6	41884544	41884544	C	T	MED20	c.148G>A	NM_004275.4	NP_004266.2:p.(Ala50Thr)	NC_000006.11:g.41884544C>T	(Likely) benign	1 lab	50e115392a
9:40703510 SPATA31A3 G>A	9	40703510	40703510	G	A	SPATA31A3	c.1167G>A	NM_001083124.1	NP_001076593.1:p.(Ser389=)	NC_000009.11:g.40703510G>A	(Likely) benign	1 lab	50e12c7b45
15:64067296 HERC1 C>T	15	64067296	64067296	C	T	HERC1	c.527G>A	NM_003922.3	NP_003913.3:p.(Ser176Asn)	NC_000015.9:g.64067296C>T	VUS	1 lab	50e25b8da1
14:19558994 POTEG G>A	14	19558994	19558994	G	A	POTEG	c.640G>A	NM_001005356.2	NP_001005356.1:p.(Val214Ile)	NC_000014.8:g.19558994G>A	(Likely) benign	1 lab	50e322cadd
15:89391148 ACAN C>T	15	89391148	89391148	C	T	ACAN	c.1611C>T	NM_013227.3	NP_037359.3:p.(Pro537=)	NC_000015.9:g.89391148C>T	(Likely) benign	1 lab	50e34e1e99
2:179473402 TTN T>A	2	179473402	179473402	T	A	TTN	c.52336A>T	NM_001267550.2	NP_001254479.2:p.(Arg17446Ter)	NC_000002.11:g.179473402T>A	(Likely) pathogenic	1 lab	f05b29b580
X:70837457 CXCR3 C>A	X	70837457	70837457	C	A	CXCR3	c.6G>T	NM_001142797.1	NP_001136269.1:p.(Glu2Asp)	NC_000023.10:g.70837457C>A	(Likely) benign	1 lab	50e4b0d660
X:22239805 PHEX C>G	X	22239805	22239805	C	G	PHEX	c.1844C>G	NM_000444.5	NP_000435.3:p.(Thr615Arg)	NC_000023.10:g.22239805C>G	VUS	1 lab	50e4eab8e5
11:62285689 AHNAK G>C	11	62285689	62285689	G	C	AHNAK	c.16200C>G	NM_001620.2	NP_001611.1:p.(Ser5400Arg)	NC_000011.9:g.62285689G>C	VUS	1 lab	50e653442e
16:53674978 RPGRIP1L T>C	16	53674978	53674978	T	C	RPGRIP1L	c.2925A>G	NM_015272.4	NP_056087.2:p.(Val975=)	NC_000016.9:g.53674978T>C	(Likely) benign	1 lab	50e71de8fd
12:49431879 KMT2D C>T	12	49431879	49431879	C	T	KMT2D	c.9260G>A	NM_003482.4	NP_003473.3:p.(Arg3087Gln)	NC_000012.11:g.49431879C>T	VUS	1 lab	f05b3cfdb5
1:155932779 ARHGEF2 G>C	1	155932779	155932779	G	C	ARHGEF2	c.839C>G	NM_001350110.1	NP_001337039.1:p.(Pro280Arg)	NC_000001.10:g.155932779G>C	VUS	1 lab	50e87529a7
19:40318018 DYRK1B G>A	19	40318018	40318018	G	A	DYRK1B	c.1002C>T	NM_004714.2	NP_004705.1:p.(Ala334=)	NC_000019.9:g.40318018G>A	(Likely) benign	1 lab	50e87d4e24
9:135781300 TSC1 TA>T	9	135781300	135781301	TA	T	TSC1	c.1664del	NM_000368.5	NP_000359.1:p.(Ile555LysfsTer74)	NC_000009.11:g.135781301del	(Likely) pathogenic	1 lab	50e89bd145
6:165711504 C6orf118 G>A	6	165711504	165711504	G	A	C6orf118	c.1023C>T	NM_144980.4	NP_659417.2:p.(Leu341=)	NC_000006.11:g.165711504G>A	(Likely) benign	1 lab	50e8c43cce
8:41798484 KAT6A C>CG	8	41798484	41798485	C	CG	KAT6A	c.2914dup	NM_006766.4	NP_006757.2:p.(Arg972ProfsTer4)	NC_000008.10:g.41798485dup	(Likely) pathogenic	1 lab	50ec7b18fd
5:149755293 TCOF1 T>C	5	149755293	149755293	T	C	TCOF1	c.1714T>C	NM_001135243.1	NP_001128715.1:p.(Leu572=)	NC_000005.9:g.149755293T>C	(Likely) benign	1 lab	50ed0f6dcf
14:64519456 SYNE2 T>C	14	64519456	64519456	T	C	SYNE2	c.8825T>C	NM_182914.2	NP_878918.2:p.(Ile2942Thr)	NC_000014.8:g.64519456T>C	(Likely) benign	1 lab	50ee1990a9
19:40704391 MAP3K10 G>A	19	40704391	40704391	G	A	MAP3K10	c.792G>A	NM_002446.4	NP_002437.2:p.(Ala264=)	NC_000019.9:g.40704391G>A	(Likely) benign	1 lab	50ef843086
17:29684383 NF1 GT>G	17	29684383	29684385	GT	G	NF1	c.7968del	NM_001042492.3	NP_001035957.1:p.(Val2657CysfsTer22)	NC_000017.10:g.29684385del	(Likely) pathogenic	1 lab	50f18d90b0
11:71712876 IL18BP C>A	11	71712876	71712876	C	A	IL18BP	c.554C>A	NM_173042.2	NP_766630.2:p.(Ser185Tyr)	NC_000011.9:g.71712876C>A	VUS	1 lab	50f3294325
2:27745351 GCKR C>T	2	27745351	27745351	C	T	GCKR	c.1597C>T	NM_001486.3	NP_001477.2:p.(Arg533Ter)	NC_000002.11:g.27745351C>T	VUS	1 lab	50f4f5560f
19:9324580 OR7D4 G>A	19	9324580	9324580	G	A	OR7D4	c.934C>T	NM_001005191.2	NP_001005191.1:p.(Pro312Ser)	NC_000019.9:g.9324580G>A	(Likely) benign	1 lab	50f5cbabe7
1:161647148 FCGR2B A>G	1	161647148	161647148	A	G	FCGR2B	c.848A>G	NM_004001.4	NP_003992.3:p.(Lys283Arg)	NC_000001.10:g.161647148A>G	(Likely) benign	1 lab	50f6c653a7
1:61872225 NFIA C>G	1	61872225	61872225	C	G	NFIA	c.1255-9C>G	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872225C>G	(Likely) benign	1 lab	50f957447d
1:27874770 AHDC1 C>T	1	27874770	27874770	C	T	AHDC1	c.3857G>A	NM_001029882.3	NP_001025053.1:p.(Arg1286Gln)	NC_000001.10:g.27874770C>T	VUS	1 lab	50fad73459
X:153001941 ABCD1 G>A	X	153001941	153001941	G	A	ABCD1	c.1367G>A	NM_000033.3	NP_000024.2:p.(Arg456His)	NC_000023.10:g.153001941G>A	(Likely) benign	1 lab	50fc693b7a
17:530438 VPS53 G>A	17	530438	530438	G	A	VPS53	c.950C>T	NM_001128159.2	NP_001121631.1:p.(Ala317Val)	NC_000017.10:g.530438G>A	VUS	1 lab	50fd5d6fab
6:152777187 SYNE1 G>A	6	152777187	152777187	G	A	SYNE1	c.2569-8C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152777187G>A	(Likely) benign	1 lab	510088648d
11:47356690 MYBPC3 C>T	11	47356690	47356690	C	T	MYBPC3	c.2808G>A	NM_000256.3	NP_000247.2:p.(Thr936=)	NC_000011.9:g.47356690C>T	(Likely) benign	1 lab	f05ea144b4
X:41205853 DDX3X T>TACGGG	X	41205853	41205861	T	TACGGG	DDX3X	c.1597_1601dup	NM_001356.4	NP_001347.3:p.(Val535AspfsTer3)	NC_000023.10:g.41205857_41205861dup	(Likely) pathogenic	1 lab	51029a62ef
17:29684022 NF1 A>T	17	29684022	29684022	A	T	NF1	c.7720A>T	NM_000267.3	NP_000258.1:p.(Lys2574Ter)	NC_000017.10:g.29684022A>T	(Likely) pathogenic	1 lab	5103e8edbc
17:29528184 NF1 G>A	17	29528184	29528184	G	A	NF1	c.1185+7G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528184G>A	(Likely) benign	1 lab	510459cb5b
19:13419273 CACNA1A C>G	19	13419273	13419273	C	G	CACNA1A	c.1741G>C	NM_023035.2	NP_075461.2:p.(Val581Leu)	NC_000019.9:g.13419273C>G	VUS	1 lab	51046f3dbe
21:46900611 COL18A1 C>T	21	46900611	46900611	C	T	COL18A1	c.2698-3C>T	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46900611C>T	(Likely) benign	1 lab	5106fe4064
6:152542136 SYNE1 G>A	6	152542136	152542136	G	A	SYNE1	c.21702C>T	NM_182961.3	NP_892006.3:p.(Ser7234=)	NC_000006.11:g.152542136G>A	VUS	1 lab	510973d8a2
19:12980093 MAST1 TCCA>T	19	12980093	12980100	TCCA	T	MAST1	c.2992_2994del	NM_014975.3	NP_055790.1:p.(His998del)	NC_000019.9:g.12980098_12980100del	VUS	1 lab	510a042e9e
16:50785694 CYLD TC>T	16	50785694	50785696	TC	T	CYLD	c.686del	NM_001378743.1	NP_001365672.1:p.(Pro229LeufsTer4)	NC_000016.9:g.50785696del	(Likely) pathogenic	1 lab	510a04ecb0
1:183106820 LAMC1 A>C	1	183106820	183106820	A	C	LAMC1	c.4331A>C	NM_002293.3	NP_002284.3:p.(Lys1444Thr)	NC_000001.10:g.183106820A>C	VUS	1 lab	510bdd7f0a
19:10468740 TYK2 G>A	19	10468740	10468740	G	A	TYK2	c.2250C>T	NM_003331.4	NP_003322.3:p.(Gly750=)	NC_000019.9:g.10468740G>A	(Likely) benign	1 lab	510c3b7527
9:35740046 GBA2 G>T	9	35740046	35740046	G	T	GBA2	c.1358C>A	NM_020944.2	NP_065995.1:p.(Ala453Glu)	NC_000009.11:g.35740046G>T	(Likely) benign	1 lab	510c9b05ca
5:50683533 ISL1 C>G	5	50683533	50683533	C	G	ISL1	c.428C>G	NM_002202.3	NP_002193.2:p.(Ala143Gly)	NC_000005.9:g.50683533C>G	VUS	1 lab	f06f325783
X:153131169 L1CAM C>T	X	153131169	153131169	C	T	L1CAM	c.2537G>A	NM_001278116.1	NP_001265045.1:p.(Arg846His)	NC_000023.10:g.153131169C>T	(Likely) benign	1 lab	510f37df72
1:197113087 ASPM C>A	1	197113087	197113087	C	A	ASPM	c.441G>T	NM_018136.4	NP_060606.3:p.(Lys147Asn)	NC_000001.10:g.197113087C>A	VUS	1 lab	510faa6869
19:5119802 KDM4B C>CGAG	19	5119802	5119820	C	CGAG	KDM4B	c.1270_1272dup	NM_015015.3	NP_055830.1:p.(Glu424dup)	NC_000019.9:g.5119818_5119820dup	VUS	1 lab	5110c5fde2
3:10452366 ATP2B2 C>A	3	10452366	10452366	C	A	ATP2B2	c.333G>T	NM_001330611.2	NP_001317540.1:p.(Leu111=)	NC_000003.11:g.10452366C>A	(Likely) benign	1 lab	5110e2ff0e
7:97822066 LMTK2 T>C	7	97822066	97822066	T	C	LMTK2	c.2289T>C	NM_014916.3	NP_055731.2:p.(Cys763=)	NC_000007.13:g.97822066T>C	(Likely) benign	1 lab	5111a6f93a
1:22846709 ZBTB40 G>A	1	22846709	22846709	G	A	ZBTB40	c.2989G>A	NM_001083621.2	NP_001077090.1:p.(Val997Met)	NC_000001.10:g.22846709G>A	(Likely) benign	1 lab	f070419e48
17:5421159 NLRP1 C>G	17	5421159	5421159	C	G	NLRP1	c.3964G>C	NM_033004.4	NP_127497.1:p.(Glu1322Gln)	NC_000017.10:g.5421159C>G	VUS	1 lab	51131f7954
4:128811266 PLK4 G>T	4	128811266	128811266	G	T	PLK4	c.1705G>T	NM_014264.4	NP_055079.3:p.(Glu569Ter)	NC_000004.11:g.128811266G>T	VUS	1 lab	5113c84826
1:196920060 CFHR2 AAATT>A	1	196920060	196920065	AAATT	A	CFHR2	c.334_337del	NM_005666.4	NP_005657.1:p.(Ile112PhefsTer18)	NC_000001.10:g.196920062_196920065del	(Likely) benign	1 lab	51145d9c06
18:67718690 RTTN C>T	18	67718690	67718690	C	T	RTTN	c.5280G>A	NM_173630.3	NP_775901.3:p.(Pro1760=)	NC_000018.9:g.67718690C>T	(Likely) benign	1 lab	5115194ef7
16:2138257 TSC2 CA>C	16	2138257	2138259	CA	C	TSC2	c.5192del	NM_000548.5	NP_000539.2:p.(Asn1731ThrfsTer95)	NC_000016.9:g.2138259del	(Likely) pathogenic	1 lab	51159e971a
11:6636721 TPP1 A>G	11	6636721	6636721	A	G	TPP1	c.1218T>C	NM_000391.3	NP_000382.3:p.(Tyr406=)	NC_000011.9:g.6636721A>G	(Likely) benign	1 lab	5116380e62
12:48389680 COL2A1 G>A	12	48389680	48389680	G	A	COL2A1	c.632C>T	NM_001844.4	NP_001835.3:p.(Pro211Leu)	NC_000012.11:g.48389680G>A	VUS	1 lab	5117947e88
7:42018223 GLI3 G>A	7	42018223	42018223	G	A	GLI3	c.1622C>T	NM_000168.5	NP_000159.3:p.(Thr541Met)	NC_000007.13:g.42018223G>A	VUS	1 lab	5117c91147
X:100911285 ARMCX2 G>T	X	100911285	100911285	G	T	ARMCX2	c.1290C>A	NM_177949.3	NP_808818.1:p.(Leu430=)	NC_000023.10:g.100911285G>T	(Likely) benign	1 lab	5117cb7b2a
19:2251736 AMH G>A	19	2251736	2251736	G	A	AMH	c.1463G>A	NM_000479.4	NP_000470.2:p.(Cys488Tyr)	NC_000019.9:g.2251736G>A	VUS	1 lab	51180fa7c6
14:23858884 MYH6 A>T	14	23858884	23858884	A	T	MYH6	c.3777T>A	NM_002471.3	NP_002462.2:p.(Asn1259Lys)	NC_000014.8:g.23858884A>T	VUS	1 lab	5119992238
14:77492650 IRF2BPL G>A	14	77492650	77492650	G	A	IRF2BPL	c.1486C>T	NM_024496.4	NP_078772.1:p.(Pro496Ser)	NC_000014.8:g.77492650G>A	(Likely) pathogenic	1 lab	511a97c0df
2:39234256 SOS1 T>C	2	39234256	39234256	T	C	SOS1	c.2589A>G	NM_005633.3	NP_005624.2:p.(Gln863=)	NC_000002.11:g.39234256T>C	(Likely) benign	1 lab	511ad3146b
17:76116837 TMC6 C>A	17	76116837	76116837	C	A	TMC6	c.1612G>T	NM_001127198.2	NP_001120670.1:p.(Gly538Cys)	NC_000017.10:g.76116837C>A	VUS	1 lab	511b016d23
17:29557355 NF1 T>TG	17	29557355	29557357	T	TG	NF1	c.3070dup	NM_000267.3	NP_000258.1:p.(Ala1024GlyfsTer5)	NC_000017.10:g.29557357dup	(Likely) pathogenic	1 lab	511b632787
X:23397856 PTCHD1 A>G	X	23397856	23397856	A	G	PTCHD1	c.500A>G	NM_173495.2	NP_775766.2:p.(Asn167Ser)	NC_000023.10:g.23397856A>G	VUS	1 lab	511b77257c
6:158571611 SERAC1 A>T	6	158571611	158571611	A	T	SERAC1	c.139T>A	NM_032861.3	NP_116250.3:p.(Phe47Ile)	NC_000006.11:g.158571611A>T	VUS	1 lab	511d405cb3
6:407451 IRF4 A>G	6	407451	407451	A	G	IRF4	c.1213-4A>G	NM_002460.3	NP_002451.2:p.?	NC_000006.11:g.407451A>G	(Likely) benign	1 lab	511e0aa7dd
12:57970616 KIF5A C>T	12	57970616	57970616	C	T	KIF5A	c.2271C>T	NM_004984.3	NP_004975.2:p.(His757=)	NC_000012.11:g.57970616C>T	(Likely) benign	1 lab	511e75e4bb
13:32953924 BRCA2 T>G	13	32953924	32953924	T	G	BRCA2	c.8991T>G	NM_000059.4	NP_000050.3:p.(Tyr2997Ter)	NC_000013.10:g.32953924T>G	(Likely) pathogenic	1 lab	f073b6b6c6
11:67800677 NDUFS8 C>T	11	67800677	67800677	C	T	NDUFS8	c.299C>T	NM_002496.4	NP_002487.1:p.(Ala100Val)	NC_000011.9:g.67800677C>T	VUS	1 lab	f0763df055
15:23890185 MAGEL2 G>A	15	23890185	23890185	G	A	MAGEL2	c.2705C>T	NM_019066.4	NP_061939.3:p.(Thr902Met)	NC_000015.9:g.23890185G>A	VUS	1 lab	5125e26d44
12:70351718 MYRFL C>T	12	70351718	70351718	C	T	MYRFL	c.2567C>T	NM_182530.2	NP_872336.2:p.(Thr856Ile)	NC_000012.11:g.70351718C>T	VUS	1 lab	5126258ae2
17:4906918 KIF1C C>G	17	4906918	4906918	C	G	KIF1C	c.732C>G	NM_006612.5	NP_006603.2:p.(Ile244Met)	NC_000017.10:g.4906918C>G	VUS	1 lab	5126fea357
2:62053738 FAM161A G>C	2	62053738	62053738	G	C	FAM161A	c.2007-4C>G	NM_001201543.1	NP_001188472.1:p.?	NC_000002.11:g.62053738G>C	(Likely) benign	1 lab	51273277cc
X:48681860 HDAC6 G>A	X	48681860	48681860	G	A	HDAC6	c.3051G>A	NM_001321226.1	NP_001308155.1:p.(Glu1017=)	NC_000023.10:g.48681860G>A	(Likely) benign	1 lab	5128c8663a
17:32962058 TMEM132E G>A	17	32962058	32962058	G	A	TMEM132E	c.1929G>A	NM_001304438.1	NP_001291367.1:p.(Val643=)	NC_000017.10:g.32962058G>A	(Likely) benign	1 lab	5129b4d59a
15:31319119 TRPM1 C>T	15	31319119	31319119	C	T	TRPM1	c.3546G>A	NM_001252020.1	NP_001238949.1:p.(Leu1182=)	NC_000015.9:g.31319119C>T	VUS	1 lab	512b92f187
10:49392714 FRMPD2 G>T	10	49392714	49392714	G	T	FRMPD2	c.2479C>A	NM_001018071.4	NP_001018081.4:p.(Leu827Ile)	NC_000010.10:g.49392714G>T	(Likely) benign	1 lab	512f46b184
X:153197573 NAA10 A>G	X	153197573	153197573	A	G	NAA10	c.342-5T>C	NM_003491.3	NP_003482.1:p.?	NC_000023.10:g.153197573A>G	(Likely) benign	1 lab	513120e61d
X:153693164 PLXNA3 C>T	X	153693164	153693164	C	T	PLXNA3	c.1996C>T	NM_017514.4	NP_059984.3:p.(Arg666Cys)	NC_000023.10:g.153693164C>T	VUS	1 lab	5134dba893
6:24454393 GPLD1 G>A	6	24454393	24454393	G	A	GPLD1	c.1185C>T	NM_001503.3	NP_001494.2:p.(His395=)	NC_000006.11:g.24454393G>A	(Likely) benign	1 lab	5134e8000e
9:131858408 CRAT G>A	9	131858408	131858408	G	A	CRAT	c.1471C>T	NM_004003.3	NP_003994.2:p.(Arg491Cys)	NC_000009.11:g.131858408G>A	VUS	1 lab	51372f6b24
9:107554244 ABCA1 C>A	9	107554244	107554244	C	A	ABCA1	c.5793G>T	NM_005502.3	NP_005493.2:p.(Arg1931Ser)	NC_000009.11:g.107554244C>A	(Likely) benign	1 lab	513c1487bf
1:160322967 NCSTN A>G	1	160322967	160322967	A	G	NCSTN	c.1059A>G	NM_001290184.1	NP_001277113.1:p.(Ser353=)	NC_000001.10:g.160322967A>G	(Likely) benign	1 lab	513d0f53dc
X:14748509 GLRA2 A>G	X	14748509	14748509	A	G	GLRA2	c.1261A>G	NM_001118886.1	NP_001112358.1:p.(Ile421Val)	NC_000023.10:g.14748509A>G	(Likely) benign	1 lab	513e16426f
10:82045354 MAT1A G>C	10	82045354	82045354	G	C	MAT1A	c.92-9C>G	NM_000429.3	NP_000420.1:p.?	NC_000010.10:g.82045354G>C	(Likely) benign	1 lab	f076d74db1
X:19475074 MAP3K15 C>T	X	19475074	19475074	C	T	MAP3K15	c.952G>A	NM_001001671.3	NP_001001671.3:p.(Asp318Asn)	NC_000023.10:g.19475074C>T	(Likely) benign	1 lab	513f99395b
21:47681209 MCM3AP C>T	21	47681209	47681209	C	T	MCM3AP	c.3452G>A	NM_003906.4	NP_003897.2:p.(Arg1151Gln)	NC_000021.8:g.47681209C>T	(Likely) benign	1 lab	514235e1ea
2:239070245 ERFE C>T	2	239070245	239070245	C	T	ERFE	c.209C>T	NM_001291832.2	NP_001278761.1:p.(Ala70Val)	NC_000002.11:g.239070245C>T	VUS	1 lab	5143aab25d
9:108363537 FKTN A>G	9	108363537	108363537	A	G	FKTN	c.208A>G	NM_001351497.1	NP_001338426.1:p.(Thr70Ala)	NC_000009.11:g.108363537A>G	VUS	1 lab	5147af74cc
3:132257045 DNAJC13 C>T	3	132257045	132257045	C	T	DNAJC13	c.6651C>T	NM_015268.4	NP_056083.3:p.(Thr2217=)	NC_000003.11:g.132257045C>T	(Likely) benign	1 lab	5147f19eeb
1:39908511 MACF1 G>T	1	39908511	39908511	G	T	MACF1	c.13053G>T	NM_012090.5	NP_036222.3:p.(Met4351Ile)	NC_000001.10:g.39908511G>T	(Likely) benign	1 lab	f077c2af0b
5:138268642 CTNNA1 CACT>C	5	138268642	138268645	CACT	C	CTNNA1	c.2433+242_2433+244del	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138268643_138268645del	VUS	1 lab	514b36feca
X:69563562 KIF4A G>T	X	69563562	69563562	G	T	KIF4A	c.1276G>T	NM_012310.4	NP_036442.3:p.(Ala426Ser)	NC_000023.10:g.69563562G>T	(Likely) benign	1 lab	514c172c75
18:21447872 LAMA3 C>T	18	21447872	21447872	C	T	LAMA3	c.4758C>T	NM_198129.2	NP_937762.2:p.(His1586=)	NC_000018.9:g.21447872C>T	(Likely) benign	1 lab	514daa11ab
X:71359044 NHSL2 C>G	X	71359044	71359044	C	G	NHSL2	c.1646C>G	NM_001013627.2	NP_001013649.2:p.(Ala549Gly)	NC_000023.10:g.71359044C>G	(Likely) benign	1 lab	514dc66c47
5:102513557 PPIP5K2 T>C	5	102513557	102513557	T	C	PPIP5K2	c.2683-8T>C	NM_001281471.2	NP_001268400.1:p.?	NC_000005.9:g.102513557T>C	(Likely) benign	1 lab	514f37c4be
21:46876321 COL18A1 G>A	21	46876321	46876321	G	A	COL18A1	c.646+231G>A	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46876321G>A	(Likely) benign	1 lab	515221c7bb
20:23618255 CST3 A>T	20	23618255	23618255	A	T	CST3	c.243+2T>A	NM_001288614.1	NP_001275543.1:p.?	NC_000020.10:g.23618255A>T	VUS	1 lab	5153532979
19:17063014 MISSING C>T	19	17063014	17063014	C	T	MISSING				NC_000019.9:g.17063014C>T	(Likely) benign	1 lab	5156952150
18:44181261 LOXHD1 C>T	18	44181261	44181261	C	T	LOXHD1	c.1053G>A	NM_144612.6	NP_653213.6:p.(Leu351=)	NC_000018.9:g.44181261C>T	(Likely) benign	1 lab	51573d97fd
9:12709122 TYRP1 G>C	9	12709122	12709122	G	C	TYRP1	c.1554G>C	NM_000550.2	NP_000541.1:p.(Gln518His)	NC_000009.11:g.12709122G>C	(Likely) benign	1 lab	51599fc359
9:13107001 MPDZ C>T	9	13107001	13107001	C	T	MPDZ	c.6089G>A	NM_003829.4	NP_003820.2:p.(Arg2030Gln)	NC_000009.11:g.13107001C>T	(Likely) benign	1 lab	515c7298dc
15:35086934 ACTC1 C>T	15	35086934	35086934	C	T	ACTC1	c.76G>A	NM_005159.4	NP_005150.1:p.(Asp26Asn)	NC_000015.9:g.35086934C>T	(Likely) pathogenic	1 lab	515cd1c227
X:103267289 H2BW1 TTC>T	X	103267289	103267294	TTC	T	H2BW1	c.437_438del	NM_001002916.5	NP_001002916.4:p.(Arg146LysfsTer20)	NC_000023.10:g.103267293_103267294del	VUS	1 lab	5161a19d47
11:78467897 TENM4 G>T	11	78467897	78467897	G	T	TENM4	c.2709C>A	NM_001098816.2	NP_001092286.2:p.(Gly903=)	NC_000011.9:g.78467897G>T	(Likely) benign	1 lab	5163930230
14:104640061 KIF26A G>A	14	104640061	104640061	G	A	KIF26A	c.1886G>A	NM_015656.1	NP_056471.1:p.(Arg629His)	NC_000014.8:g.104640061G>A	VUS	1 lab	5165b2d37e
14:23892874 MYH7 T>C	14	23892874	23892874	T	C	MYH7	c.2981A>G	NM_000257.2	NP_000248.2:p.(Lys994Arg)	NC_000014.8:g.23892874T>C	VUS	1 lab	51681d9f1c
7:50531010 DDC C>T	7	50531010	50531010	C	T	DDC	c.1362G>A	NM_001082971.1	NP_001076440.1:p.(Thr454=)	NC_000007.13:g.50531010C>T	(Likely) benign	1 lab	516a1b07c7
17:35310450 AATF G>A	17	35310450	35310450	G	A	AATF	c.548G>A	NM_012138.4	NP_036270.1:p.(Gly183Glu)	NC_000017.10:g.35310450G>A	(Likely) benign	1 lab	516abdf108
X:57619061 ZXDB G>C	X	57619061	57619061	G	C	ZXDB	c.580G>C	NM_007157.3	NP_009088.1:p.(Ala194Pro)	NC_000023.10:g.57619061G>C	(Likely) benign	1 lab	516ac34297
17:26851037 FOXN1 C>G	17	26851037	26851037	C	G	FOXN1	c.50C>G	NM_003593.2	NP_003584.2:p.(Thr17Ser)	NC_000017.10:g.26851037C>G	(Likely) benign	1 lab	516b93a67c
17:18024927 MYO15A G>C	17	18024927	18024927	G	C	MYO15A	c.2813G>C	NM_016239.3	NP_057323.3:p.(Arg938Pro)	NC_000017.10:g.18024927G>C	VUS	1 lab	516cb1bded
1:197070827 ASPM T>C	1	197070827	197070827	T	C	ASPM	c.7554A>G	NM_018136.4	NP_060606.3:p.(Arg2518=)	NC_000001.10:g.197070827T>C	(Likely) benign	1 lab	516ce8a789
X:47100788 USP11 C>T	X	47100788	47100788	C	T	USP11	c.1088C>T	NM_004651.3	NP_004642.2:p.(Ala363Val)	NC_000023.10:g.47100788C>T	VUS	1 lab	516d0bded9
20:3210340 SLC4A11 G>A	20	3210340	3210340	G	A	SLC4A11	c.1701C>T	NM_001174090.1	NP_001167561.1:p.(Leu567=)	NC_000020.10:g.3210340G>A	(Likely) benign	1 lab	516dc3e56a
17:33318071 LIG3 G>C	17	33318071	33318071	G	C	LIG3	c.979G>C	NM_013975.3	NP_039269.2:p.(Val327Leu)	NC_000017.10:g.33318071G>C	VUS	1 lab	51718360f4
20:21143067 KIZ T>C	20	21143067	21143067	T	C	KIZ	c.619T>C	NM_001352436.1	NP_001339365.1:p.(Ser207Pro)	NC_000020.10:g.21143067T>C	VUS	1 lab	5173396621
11:118377082 KMT2A C>T	11	118377082	118377082	C	T	KMT2A	c.10475C>T	NM_001197104.1	NP_001184033.1:p.(Ala3492Val)	NC_000011.9:g.118377082C>T	(Likely) benign	1 lab	5173b05e1e
11:9165683 DENND5A T>C	11	9165683	9165683	T	C	DENND5A	c.3265A>G	NM_015213.3	NP_056028.2:p.(Ile1089Val)	NC_000011.9:g.9165683T>C	VUS	1 lab	5174dd0843
4:77661977 SHROOM3 G>T	4	77661977	77661977	G	T	SHROOM3	c.2651G>T	NM_020859.3	NP_065910.3:p.(Arg884Leu)	NC_000004.11:g.77661977G>T	(Likely) benign	1 lab	51767a2f95
19:2112952 AP3D1 C>T	19	2112952	2112952	C	T	AP3D1	c.2694G>A	NM_001261826.3	NP_001248755.1:p.(Val898=)	NC_000019.9:g.2112952C>T	(Likely) benign	1 lab	5176952aa6
21:47819503 PCNT G>A	21	47819503	47819503	G	A	PCNT	c.4585-1G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47819503G>A	(Likely) pathogenic	1 lab	5176dc2abc
4:126240758 FAT4 C>T	4	126240758	126240758	C	T	FAT4	c.3192C>T	NM_001291303.1	NP_001278232.1:p.(Asp1064=)	NC_000004.11:g.126240758C>T	(Likely) benign	1 lab	51773e560d
10:97446828 TCTN3 G>A	10	97446828	97446828	G	A	TCTN3	c.825C>T	NM_015631.5	NP_056446.4:p.(Ala275=)	NC_000010.10:g.97446828G>A	(Likely) benign	1 lab	5177a1c51d
15:31217495 FAN1 G>A	15	31217495	31217495	G	A	FAN1	c.2337+1G>A	NM_014967.4	NP_055782.3:p.?	NC_000015.9:g.31217495G>A	(Likely) pathogenic	1 lab	517948f087
6:144508546 STX11 C>T	6	144508546	144508546	C	T	STX11	c.782C>T	NM_003764.3	NP_003755.2:p.(Ala261Val)	NC_000006.11:g.144508546C>T	(Likely) benign	1 lab	517a78b1bd
9:135140289 SETX A>G	9	135140289	135140289	A	G	SETX	c.7371T>C	NM_015046.5	NP_055861.3:p.(His2457=)	NC_000009.11:g.135140289A>G	(Likely) benign	1 lab	517a888f5a
X:122537314 GRIA3 A>G	X	122537314	122537314	A	G	GRIA3	c.1237A>G	NM_000828.4	NP_000819.3:p.(Ile413Val)	NC_000023.10:g.122537314A>G	(Likely) benign	1 lab	517abb340d
2:179428377 TTN T>C	2	179428377	179428377	T	C	TTN	c.82482A>G	NM_001267550.1	NP_001254479.1:p.(Val27494=)	NC_000002.11:g.179428377T>C	(Likely) benign	1 lab	517c822351
14:102496148 DYNC1H1 CT>C	14	102496148	102496149	CT	C	DYNC1H1	c.9643-7del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102496149del	(Likely) benign	1 lab	517da4606f
19:50812362 MYH14 G>A	19	50812362	50812362	G	A	MYH14	c.5888G>A	NM_001145809.1	NP_001139281.1:p.(Arg1963His)	NC_000019.9:g.50812362G>A	VUS	1 lab	517e1e8bce
X:147013964 FMR1 G>A	X	147013964	147013964	G	A	FMR1	c.651G>A	NM_002024.5	NP_002015.1:p.(Ser217=)	NC_000023.10:g.147013964G>A	(Likely) benign	1 lab	517e55d0fa
15:28090198 OCA2 C>T	15	28090198	28090198	C	T	OCA2	c.2339G>A	NM_000275.2	NP_000266.2:p.(Gly780Asp)	NC_000015.9:g.28090198C>T	VUS	1 lab	517ee7cfc0
7:32467523 PDE1C G>T	7	32467523	32467523	G	T	PDE1C	c.221C>A	NM_001322059.1	NP_001308988.1:p.(Pro74Gln)	NC_000007.13:g.32467523G>T	VUS	1 lab	517f3fa3f7
18:8394505 PTPRM G>A	18	8394505	8394505	G	A	PTPRM	c.4240G>A	NM_001105244.1	NP_001098714.1:p.(Ala1414Thr)	NC_000018.9:g.8394505G>A	VUS	1 lab	517fb27517
17:41169891 VAT1 G>A	17	41169891	41169891	G	A	VAT1	c.823C>T	NM_006373.4	NP_006364.2:p.(Leu275Phe)	NC_000017.10:g.41169891G>A	VUS	1 lab	517fecd90b
3:27760367 EOMES G>A	3	27760367	27760367	G	A	EOMES	c.1176C>T	NM_005442.3	NP_005433.2:p.(Ser392=)	NC_000003.11:g.27760367G>A	(Likely) benign	1 lab	5180064e7a
19:10265372 DNMT1 C>T	19	10265372	10265372	C	T	DNMT1	c.1674G>A	NM_001379.3	NP_001370.1:p.(Val558=)	NC_000019.9:g.10265372C>T	(Likely) benign	1 lab	5180311b3b
11:1262859 MUC5B C>T	11	1262859	1262859	C	T	MUC5B	c.4749C>T	NM_002458.2	NP_002449.2:p.(Gly1583=)	NC_000011.9:g.1262859C>T	(Likely) benign	1 lab	5180a61105
18:31324002 ASXL3 G>A	18	31324002	31324002	G	A	ASXL3	c.4190G>A	NM_030632.2	NP_085135.1:p.(Cys1397Tyr)	NC_000018.9:g.31324002G>A	VUS	1 lab	518278ce5e
1:220325020 RAB3GAP2 G>T	1	220325020	220325020	G	T	RAB3GAP2	c.3954C>A	NM_012414.3	NP_036546.2:p.(His1318Gln)	NC_000001.10:g.220325020G>T	(Likely) benign	1 lab	5182a221b3
1:220101267 SLC30A10 G>C	1	220101267	220101267	G	C	SLC30A10	c.516C>G	NM_018713.3	NP_061183.2:p.(Gly172=)	NC_000001.10:g.220101267G>C	(Likely) benign	1 lab	f07fc6e354
1:16461561 EPHA2 C>T	1	16461561	16461561	C	T	EPHA2	c.1552G>A	NM_004431.4	NP_004422.2:p.(Gly518Ser)	NC_000001.10:g.16461561C>T	VUS	1 lab	5182e1722e
X:22051133 PHEX G>C	X	22051133	22051133	G	C	PHEX	c.10G>C	NM_000444.5	NP_000435.3:p.(Glu4Gln)	NC_000023.10:g.22051133G>C	VUS	1 lab	5184e7af77
11:62760913 SLC22A8 G>A	11	62760913	62760913	G	A	SLC22A8	c.1512C>T	NM_004254.4	NP_004245.2:p.(Ile504=)	NC_000011.9:g.62760913G>A	(Likely) benign	1 lab	51859c79ef
8:7195434 USP17L4 G>T	8	7195434	7195434	G	T	USP17L4	c.798G>T	NM_001256874.1	NP_001243803.1:p.(Thr266=)	NC_000008.10:g.7195434G>T	(Likely) benign	1 lab	5185a603b1
16:68391047 PRMT7 A>G	16	68391047	68391047	A	G	PRMT7	c.1999A>G	NM_001351143.1	NP_001338072.1:p.(Thr667Ala)	NC_000016.9:g.68391047A>G	(Likely) benign	1 lab	5186401a95
5:178413934 GRM6 G>A	5	178413934	178413934	G	A	GRM6	c.1405C>T	NM_000843.4	NP_000834.2:p.(Arg469Trp)	NC_000005.9:g.178413934G>A	VUS	1 lab	5187d331b4
12:111748269 CUX2 G>C	12	111748269	111748269	G	C	CUX2	c.1683G>C	NM_015267.4	NP_056082.2:p.(Gln561His)	NC_000012.11:g.111748269G>C	VUS	1 lab	f080ae286e
16:815287 MSLN G>A	16	815287	815287	G	A	MSLN	c.688G>A	NM_005823.6	NP_005814.2:p.(Gly230Arg)	NC_000016.9:g.815287G>A	VUS	1 lab	518c09a943
2:27440742 CAD C>T	2	27440742	27440742	C	T	CAD	c.83-3C>T	NM_004341.5	NP_004332.2:p.?	NC_000002.11:g.27440742C>T	(Likely) benign	1 lab	f0813f60f7
X:3238302 MXRA5 C>T	X	3238302	3238302	C	T	MXRA5	c.5424G>A	NM_015419.3	NP_056234.2:p.(Met1808Ile)	NC_000023.10:g.3238302C>T	(Likely) benign	1 lab	518c2a3b7e
3:47033961 NBEAL2 A>C	3	47033961	47033961	A	C	NBEAL2	c.1033-4A>C	NM_015175.2	NP_055990.1:p.?	NC_000003.11:g.47033961A>C	(Likely) benign	1 lab	518cb26b95
10:127512283 BCCIP A>G	10	127512283	127512283	A	G	BCCIP	c.157A>G	NM_078469.2	NP_510869.1:p.(Ile53Val)	NC_000010.10:g.127512283A>G	(Likely) benign	1 lab	518cf2b70b
6:72892150 RIMS1 G>A	6	72892150	72892150	G	A	RIMS1	c.976G>A	NM_014989.5	NP_055804.2:p.(Asp326Asn)	NC_000006.11:g.72892150G>A	VUS	1 lab	518d650213
16:3819244 CREBBP C>A	16	3819244	3819244	C	A	CREBBP	c.2991G>T	NM_004380.2	NP_004371.2:p.(Met997Ile)	NC_000016.9:g.3819244C>A	(Likely) benign	1 lab	518ee3b735
2:219526238 BCS1L C>T	2	219526238	219526238	C	T	BCS1L	c.430C>T	NM_004328.4	NP_004319.1:p.(Arg144Ter)	NC_000002.11:g.219526238C>T	(Likely) pathogenic	1 lab	5190af56e8
2:152522800 NEB C>T	2	152522800	152522800	C	T	NEB	c.4835G>A	NM_001271208.1	NP_001258137.1:p.(Arg1612His)	NC_000002.11:g.152522800C>T	VUS	1 lab	5190b0bd1a
19:6709818 C3 C>T	19	6709818	6709818	C	T	C3	c.1722G>A	NM_000064.2	NP_000055.2:p.(Gln574=)	NC_000019.9:g.6709818C>T	(Likely) benign	1 lab	5190d78fa4
3:15686888 BTD C>T	3	15686888	15686888	C	T	BTD	c.1525C>T	NM_000060.4	NP_000051.1:p.(Pro509Ser)	NC_000003.11:g.15686888C>T	VUS	1 lab	51915cf71b
4:108578102 PAPSS1 A>G	4	108578102	108578102	A	G	PAPSS1	c.845T>C	NM_005443.5	NP_005434.4:p.(Met282Thr)	NC_000004.11:g.108578102A>G	VUS	1 lab	5192d24b4c
1:171605539 MYOC A>C	1	171605539	171605539	A	C	MYOC	c.1041T>G	NM_000261.1	NP_000252.1:p.(Tyr347Ter)	NC_000001.10:g.171605539A>C	(Likely) pathogenic	1 lab	5193f61184
3:4508693 SUMF1 G>C	3	4508693	4508693	G	C	SUMF1	c.237C>G	NM_182760.3	NP_877437.2:p.(Pro79=)	NC_000003.11:g.4508693G>C	(Likely) benign	1 lab	51946bcfad
12:91545508 DCN G>T	12	91545508	91545508	G	T	DCN	c.808C>A	NM_001920.4	NP_001911.1:p.(His270Asn)	NC_000012.11:g.91545508G>T	VUS	1 lab	519588f4ff
13:108862915 LIG4 T>A	13	108862915	108862915	T	A	LIG4	c.702A>T	NM_001352599.1	NP_001339528.1:p.(Gly234=)	NC_000013.10:g.108862915T>A	(Likely) benign	1 lab	5196c98629
1:151403244 POGZ T>C	1	151403244	151403244	T	C	POGZ	c.357A>G	NM_015100.3	NP_055915.2:p.(Thr119=)	NC_000001.10:g.151403244T>C	(Likely) benign	1 lab	5196f41366
2:110947862 NPHP1 T>C	2	110947862	110947862	T	C	NPHP1	c.144-10601A>G	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110947862T>C	(Likely) benign	1 lab	519868aee9
1:228345987 GJC2 G>A	1	228345987	228345987	G	A	GJC2	c.528G>A	NM_020435.3	NP_065168.2:p.(Glu176=)	NC_000001.10:g.228345987G>A	(Likely) benign	1 lab	51986dfc63
6:42937470 PEX6 G>T	6	42937470	42937470	G	T	PEX6	c.1303C>A	NM_000287.3	NP_000278.3:p.(Pro435Thr)	NC_000006.11:g.42937470G>T	(Likely) benign	1 lab	519b28988c
2:179650566 TTN T>C	2	179650566	179650566	T	C	TTN	c.2370+9A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179650566T>C	(Likely) benign	1 lab	519b8a9675
3:135974783 PCCB G>A	3	135974783	135974783	G	A	PCCB	c.269G>A	NM_001178014.1	NP_001171485.1:p.(Cys90Tyr)	NC_000003.11:g.135974783G>A	VUS	1 lab	519cf0fdcc
17:29527536 NF1 A>T	17	29527536	29527536	A	T	NF1	c.985A>T	NM_000267.3	NP_000258.1:p.(Lys329Ter)	NC_000017.10:g.29527536A>T	(Likely) pathogenic	1 lab	519d444119
16:70989428 HYDIN C>T	16	70989428	70989428	C	T	HYDIN	c.6166G>A	NM_001270974.2	NP_001257903.1:p.(Val2056Met)	NC_000016.9:g.70989428C>T	(Likely) benign	1 lab	51a16ed7a4
9:114449073 SHOC1 G>A	9	114449073	114449073	G	A	SHOC1	c.4312C>T	NM_173521.4	NP_775792.4:p.(Gln1438Ter)	NC_000009.11:g.114449073G>A	VUS	1 lab	51a1e6581e
11:56057950 OR8H1 T>A	11	56057950	56057950	T	A	OR8H1	c.589A>T	NM_001005199.1	NP_001005199.1:p.(Met197Leu)	NC_000011.9:g.56057950T>A	(Likely) benign	1 lab	51a20e3962
16:50339756 ADCY7 G>A	16	50339756	50339756	G	A	ADCY7	c.1748G>A	NM_001114.4	NP_001105.1:p.(Arg583His)	NC_000016.9:g.50339756G>A	(Likely) benign	1 lab	51a2164420
10:55943305 PCDH15 T>C	10	55943305	55943305	T	C	PCDH15	c.1489A>G	NM_001354429.1	NP_001341358.1:p.(Ile497Val)	NC_000010.10:g.55943305T>C	(Likely) benign	1 lab	51a2760170
3:52553535 STAB1 C>T	3	52553535	52553535	C	T	STAB1	c.5190C>T	NM_015136.3	NP_055951.2:p.(Ala1730=)	NC_000003.11:g.52553535C>T	VUS	1 lab	51a4f4a70a
16:56370674 GNAO1 C>T	16	56370674	56370674	C	T	GNAO1	c.625C>T	NM_138736.2	NP_620073.2:p.(Arg209Cys)	NC_000016.9:g.56370674C>T	(Likely) pathogenic	1 lab	51a70aad03
15:49089720 CEP152 T>C	15	49089720	49089720	T	C	CEP152	c.318A>G	NM_001194998.1	NP_001181927.1:p.(Glu106=)	NC_000015.9:g.49089720T>C	(Likely) benign	1 lab	51a7e1a9f9
6:107955369 SOBP C>T	6	107955369	107955369	C	T	SOBP	c.1321C>T	NM_018013.3	NP_060483.3:p.(Pro441Ser)	NC_000006.11:g.107955369C>T	VUS	1 lab	51a8e17687
3:10183629 VHL C>A	3	10183629	10183629	C	A	VHL	c.98C>A	NM_000551.3	NP_000542.1:p.(Ser33Ter)	NC_000003.11:g.10183629C>A	(Likely) pathogenic	1 lab	51a9389477
6:7578796 DSP G>A	6	7578796	7578796	G	A	DSP	c.3084+1G>A	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7578796G>A	(Likely) pathogenic	1 lab	51ab7a268b
11:2905297 CDKN1C G>A	11	2905297	2905297	G	A	CDKN1C	c.888C>T	NM_000076.2	NP_000067.1:p.(Pro296=)	NC_000011.9:g.2905297G>A	(Likely) benign	1 lab	51acaae24c
3:10261371 IRAK2 C>T	3	10261371	10261371	C	T	IRAK2	c.911C>T	NM_001570.4	NP_001561.3:p.(Ser304Leu)	NC_000003.11:g.10261371C>T	VUS	1 lab	51ae7af5be
2:1684049 PXDN C>T	2	1684049	1684049	C	T	PXDN	c.646G>A	NM_012293.2	NP_036425.1:p.(Ala216Thr)	NC_000002.11:g.1684049C>T	(Likely) benign	1 lab	51af308807
X:47836691 ZNF182 G>A	X	47836691	47836691	G	A	ZNF182	c.795C>T	NM_001178099.1	NP_001171570.1:p.(Thr265=)	NC_000023.10:g.47836691G>A	(Likely) benign	1 lab	51af99afd5
5:68720441 MARVELD2 CATT>C	5	68720441	68720444	CATT	C	MARVELD2	c.1161_1163del	NM_001038603.3	NP_001033692.2:p.(Leu388del)	NC_000005.9:g.68720442_68720444del	(Likely) pathogenic	1 lab	51b065b09a
5:137517187 KIF20A G>A	5	137517187	137517187	G	A	KIF20A	c.242G>A	NM_005733.3	NP_005724.1:p.(Arg81Gln)	NC_000005.9:g.137517187G>A	VUS	1 lab	51b1a2c403
11:47605991 NDUFS3 T>A	11	47605991	47605991	T	A	NDUFS3	c.753T>A	NM_004551.2	NP_004542.1:p.(Ser251Arg)	NC_000011.9:g.47605991T>A	(Likely) benign	1 lab	51b22fe366
15:49059522 CEP152 T>G	15	49059522	49059522	T	G	CEP152	c.2147+10A>C	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49059522T>G	(Likely) benign	1 lab	f08a317379
6:65300443 EYS T>A	6	65300443	65300443	T	A	EYS	c.5317A>T	NM_001142800.1	NP_001136272.1:p.(Asn1773Tyr)	NC_000006.11:g.65300443T>A	(Likely) benign	1 lab	51b2957e43
1:7811014 CAMTA1 G>A	1	7811014	7811014	G	A	CAMTA1	c.4690-245G>A	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7811014G>A	(Likely) benign	1 lab	f08dec27ad
2:157185852 NR4A2 A>C	2	157185852	157185852	A	C	NR4A2	c.847T>G	NM_006186.3	NP_006177.1:p.(Cys283Gly)	NC_000002.11:g.157185852A>C	VUS	1 lab	51b54d361e
7:128547421 KCP G>A	7	128547421	128547421	G	A	KCP	c.305C>T	NM_001366122.1	NP_001353051.1:p.(Ala102Val)	NC_000007.13:g.128547421G>A	(Likely) benign	1 lab	51b64c7547
X:32328264 DMD G>T	X	32328264	32328264	G	T	DMD	c.5683C>A	NM_004010.3	NP_004001.1:p.(Leu1895Ile)	NC_000023.10:g.32328264G>T	(Likely) benign	1 lab	51b656a3f6
16:84203606 DNAAF1 C>T	16	84203606	84203606	C	T	DNAAF1	c.1172C>T	NM_178452.5	NP_848547.4:p.(Pro391Leu)	NC_000016.9:g.84203606C>T	VUS	1 lab	51b869fdf1
6:161139748 PLG G>A	6	161139748	161139748	G	A	PLG	c.974G>A	NM_000301.3	NP_000292.1:p.(Arg325His)	NC_000006.11:g.161139748G>A	VUS	1 lab	51b8770fcc
21:35254584 ITSN1 C>T	21	35254584	35254584	C	T	ITSN1	c.4364C>T	NM_001331010.1	NP_001317939.1:p.(Pro1455Leu)	NC_000021.8:g.35254584C>T	VUS	1 lab	51ba462daf
6:121434289 TBC1D32 C>A	6	121434289	121434289	C	A	TBC1D32	c.3211G>T	NM_001367759.1	NP_001354688.1:p.(Ala1071Ser)	NC_000006.11:g.121434289C>A	VUS	1 lab	51ba9e6488
19:50128236 PRR12 G>A	19	50128236	50128236	G	A	PRR12	c.5857G>A	NM_020719.3	NP_065770.1:p.(Val1953Ile)	NC_000019.9:g.50128236G>A	(Likely) benign	1 lab	f0950f74c4
7:4827803 AP5Z1 C>T	7	4827803	4827803	C	T	AP5Z1	c.1473C>T	NM_014855.3	NP_055670.1:p.(Ser491=)	NC_000007.13:g.4827803C>T	(Likely) benign	1 lab	51bb924132
8:10466060 RP1L1 C>T	8	10466060	10466060	C	T	RP1L1	c.5548G>A	NM_178857.5	NP_849188.4:p.(Gly1850Ser)	NC_000008.10:g.10466060C>T	(Likely) benign	1 lab	51bc94d630
22:38524445 PLA2G6 T>C	22	38524445	38524445	T	C	PLA2G6	c.1187-8A>G	NM_003560.2	NP_003551.2:p.?	NC_000022.10:g.38524445T>C	(Likely) benign	1 lab	51be339876
19:11170778 SMARCA4 T>C	19	11170778	11170778	T	C	SMARCA4	c.4826T>C	NM_001128844.1	NP_001122316.1:p.(Leu1609Pro)	NC_000019.9:g.11170778T>C	VUS	1 lab	51bf69c693
6:30689727 TUBB A>G	6	30689727	30689727	A	G	TUBB	c.72A>G	NM_001293212.1	NP_001280141.1:p.(Gln24=)	NC_000006.11:g.30689727A>G	(Likely) benign	1 lab	51c04e0d5b
5:1432663 SLC6A3 G>A	5	1432663	1432663	G	A	SLC6A3	c.569C>T	NM_001044.5	NP_001035.1:p.(Ser190Leu)	NC_000005.9:g.1432663G>A	VUS	1 lab	f09ada96c6
12:88926233 KITLG G>A	12	88926233	88926233	G	A	KITLG	c.177C>T	NM_000899.4	NP_000890.1:p.(Pro59=)	NC_000012.11:g.88926233G>A	(Likely) benign	1 lab	51c1c29374
8:145004345 PLEC G>A	8	145004345	145004345	G	A	PLEC	c.2990C>T	NM_201380.3	NP_958782.1:p.(Pro997Leu)	NC_000008.10:g.145004345G>A	VUS	1 lab	51c1cc5f45
7:73467564 ELN G>A	7	73467564	73467564	G	A	ELN	c.1021G>A	NM_001278939.1	NP_001265868.1:p.(Val341Ile)	NC_000007.13:g.73467564G>A	(Likely) benign	1 lab	51c2040fb2
1:12393358 VPS13D C>G	1	12393358	12393358	C	G	VPS13D	c.8363C>G	NM_015378.4	NP_056193.2:p.(Pro2788Arg)	NC_000001.10:g.12393358C>G	(Likely) benign	1 lab	51c3119caa
19:30196309 C19orf12 CAA>C	19	30196309	30196331	CAA	C	C19orf12	c.161-2427_161-2426del	NM_031448.6	NP_113636.2:p.?	NC_000019.9:g.30196330_30196331del	(Likely) benign	1 lab	51c3525523
1:16451737 EPHA2 C>G	1	16451737	16451737	C	G	EPHA2	c.2904G>C	NM_004431.4	NP_004422.2:p.(Gln968His)	NC_000001.10:g.16451737C>G	(Likely) benign	1 lab	51c4687b8b
8:62626821 ASPH C>T	8	62626821	62626821	C	T	ASPH	c.103+7G>A	NM_004318.3	NP_004309.2:p.?	NC_000008.10:g.62626821C>T	(Likely) benign	1 lab	51c5840e18
18:47506839 MYO5B C>T	18	47506839	47506839	C	T	MYO5B	c.1031G>A	NM_001080467.2	NP_001073936.1:p.(Arg344His)	NC_000018.9:g.47506839C>T	VUS	1 lab	51c716b372
2:110902155 NPHP1 G>T	2	110902155	110902155	G	T	NPHP1	c.1521-9C>A	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110902155G>T	(Likely) benign	1 lab	51c76a24d5
4:5687096 EVC2 C>A	4	5687096	5687096	C	A	EVC2	c.816+1G>T	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5687096C>A	(Likely) pathogenic	1 lab	f0a252b57a
11:723309 EPS8L2 C>G	11	723309	723309	C	G	EPS8L2	c.1410C>G	NM_022772.3	NP_073609.2:p.(Pro470=)	NC_000011.9:g.723309C>G	(Likely) benign	1 lab	51c838d046
13:32953995 BRCA2 AAAGAGCTAACATACAG>A	13	32953995	32954011	AAAGAGCTAACATACAG	A	BRCA2	c.9063_9078del	NM_000059.4	NP_000050.3:p.(Glu3021AspfsTer2)	NC_000013.10:g.32953996_32954011del	(Likely) pathogenic	1 lab	51c84dd408
16:88904170 GALNS A>G	16	88904170	88904170	A	G	GALNS	c.426T>C	NM_000512.4	NP_000503.1:p.(His142=)	NC_000016.9:g.88904170A>G	(Likely) benign	1 lab	51c96ca9ba
17:29527438 NF1 A>G	17	29527438	29527438	A	G	NF1	c.889-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29527438A>G	(Likely) pathogenic	1 lab	51cc14efdd
15:29561562 NSMCE3 G>C	15	29561562	29561562	G	C	NSMCE3	c.348C>G	NM_138704.3	NP_619649.1:p.(Ile116Met)	NC_000015.9:g.29561562G>C	VUS	1 lab	51cd2a7dcb
5:150925408 FAT2 C>T	5	150925408	150925408	C	T	FAT2	c.5280G>A	NM_001447.2	NP_001438.1:p.(Lys1760=)	NC_000005.9:g.150925408C>T	(Likely) benign	1 lab	51cd667094
5:140431502 PCDHB1 T>C	5	140431502	140431502	T	C	PCDHB1	c.447T>C	NM_013340.3	NP_037472.2:p.(Gly149=)	NC_000005.9:g.140431502T>C	(Likely) benign	1 lab	51d09caaa6
3:11071032 SLC6A1 C>T	3	11071032	11071032	C	T	SLC6A1	c.1317C>T	NM_003042.3	NP_003033.3:p.(Ile439=)	NC_000003.11:g.11071032C>T	(Likely) benign	1 lab	51d392b4e8
4:41259162 UCHL1 C>A	4	41259162	41259162	C	A	UCHL1	c.45+19C>A	NM_004181.4	NP_004172.2:p.?	NC_000004.11:g.41259162C>A	(Likely) benign	1 lab	51d3c74eb2
14:50606726 SOS2 G>C	14	50606726	50606726	G	C	SOS2	c.2719C>G	NM_006939.4	NP_008870.2:p.(Gln907Glu)	NC_000014.8:g.50606726G>C	VUS	1 lab	f0a5834521
17:75303231 SEPTIN9 C>T	17	75303231	75303231	C	T	SEPTIN9	c.28C>T	NM_001113491.2	NP_001106963.1:p.(Arg10Trp)	NC_000017.10:g.75303231C>T	VUS	1 lab	51d4bdbbe5
3:33059966 GLB1 C>T	3	33059966	33059966	C	T	GLB1	c.1321G>A	NM_000404.4	NP_000395.3:p.(Asp441Asn)	NC_000003.11:g.33059966C>T	(Likely) pathogenic	1 lab	f0ab09f0e7
22:32479102 SLC5A1 G>T	22	32479102	32479102	G	T	SLC5A1	c.625G>T	NM_000343.3	NP_000334.1:p.(Val209Leu)	NC_000022.10:g.32479102G>T	(Likely) benign	1 lab	51d6adbf57
14:75265097 YLPM1 G>A	14	75265097	75265097	G	A	YLPM1	c.3097G>A	NM_019589.3	NP_062535.2:p.(Asp1033Asn)	NC_000014.8:g.75265097G>A	(Likely) benign	1 lab	51d762e5d7
17:76488794 DNAH17 G>A	17	76488794	76488794	G	A	DNAH17	c.6462C>T	NM_173628.3	NP_775899.3:p.(Ala2154=)	NC_000017.10:g.76488794G>A	(Likely) benign	1 lab	51d766aab1
11:77835220 ALG8 G>A	11	77835220	77835220	G	A	ALG8	c.215C>T	NM_024079.5	NP_076984.2:p.(Ala72Val)	NC_000011.9:g.77835220G>A	VUS	1 lab	f0ac8b23f4
16:88505650 ZNF469 G>A	16	88505650	88505650	G	A	ZNF469				NC_000016.9:g.88505650G>A	(Likely) benign	1 lab	51d81d13a0
3:128621425 ACAD9 G>A	3	128621425	128621425	G	A	ACAD9	c.912G>A	NM_014049.4	NP_054768.2:p.(Arg304=)	NC_000003.11:g.128621425G>A	(Likely) benign	1 lab	51daba7510
3:38888528 SCN11A T>G	3	38888528	38888528	T	G	SCN11A	c.5033A>C	NM_001349253.1	NP_001336182.1:p.(Asp1678Ala)	NC_000003.11:g.38888528T>G	VUS	1 lab	51db1fa163
16:88499225 ZNF469 G>A	16	88499225	88499225	G	A	ZNF469				NC_000016.9:g.88499225G>A	(Likely) benign	1 lab	51db283393
5:178408726 GRM6 G>A	5	178408726	178408726	G	A	GRM6	c.2566C>T	NM_000843.4	NP_000834.2:p.(Arg856Trp)	NC_000005.9:g.178408726G>A	VUS	1 lab	51dbd44014
1:65775572 DNAJC6 G>T	1	65775572	65775572	G	T	DNAJC6	c.144G>T	NM_001256864.2	NP_001243793.1:p.(Arg48=)	NC_000001.10:g.65775572G>T	(Likely) benign	1 lab	51dc70791b
X:102334691 NXF3 G>A	X	102334691	102334691	G	A	NXF3	c.1160C>T	NM_022052.1	NP_071335.1:p.(Pro387Leu)	NC_000023.10:g.102334691G>A	(Likely) benign	1 lab	51ddbfb945
22:51065310 ARSA G>A	22	51065310	51065310	G	A	ARSA	c.636C>T	NM_000487.5	NP_000478.3:p.(Ala212=)	NC_000022.10:g.51065310G>A	(Likely) benign	1 lab	51ddd3856a
17:66521052 PRKAR1A G>A	17	66521052	66521052	G	A	PRKAR1A	c.503-1G>A	NM_002734.5	NP_002725.1:p.?	NC_000017.10:g.66521052G>A	(Likely) pathogenic	1 lab	f0ad37e786
5:1264641 TERT G>A	5	1264641	1264641	G	A	TERT	c.2721C>T	NM_198253.2	NP_937983.2:p.(Phe907=)	NC_000005.9:g.1264641G>A	(Likely) benign	1 lab	51e1270146
10:100190985 HPS1 C>T	10	100190985	100190985	C	T	HPS1	c.571G>A	NM_001322477.1	NP_001309406.1:p.(Val191Ile)	NC_000010.10:g.100190985C>T	(Likely) benign	1 lab	51e23fd73f
13:32971011 BRCA2 C>T	13	32971011	32971011	C	T	BRCA2	c.9502-24C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971011C>T	(Likely) benign	1 lab	51e34b424e
5:153432970 MFAP3 C>T	5	153432970	153432970	C	T	MFAP3	c.786C>T	NM_001242336.1	NP_001229265.1:p.(Asp262=)	NC_000005.9:g.153432970C>T	(Likely) benign	1 lab	51e50cf871
11:65410068 SIPA1 A>G	11	65410068	65410068	A	G	SIPA1	c.942A>G	NM_153253.29	NP_694985.29:p.(Ser314=)	NC_000011.9:g.65410068A>G	(Likely) benign	1 lab	51e6d3969f
14:76245969 TTLL5 T>G	14	76245969	76245969	T	G	TTLL5	c.2439T>G	NM_015072.4	NP_055887.3:p.(Ser813=)	NC_000014.8:g.76245969T>G	(Likely) benign	1 lab	51e6f2357c
7:97875263 TECPR1 G>A	7	97875263	97875263	G	A	TECPR1	c.196C>T	NM_015395.2	NP_056210.1:p.(Arg66Cys)	NC_000007.13:g.97875263G>A	VUS	1 lab	51e7173557
19:8651536 ADAMTS10 G>C	19	8651536	8651536	G	C	ADAMTS10	c.2309C>G	NM_030957.3	NP_112219.3:p.(Pro770Arg)	NC_000019.9:g.8651536G>C	VUS	1 lab	51e7f755e4
22:37333755 CSF2RB G>A	22	37333755	37333755	G	A	CSF2RB	c.1905G>A	NM_000395.2	NP_000386.1:p.(Gly635=)	NC_000022.10:g.37333755G>A	(Likely) benign	1 lab	51e8f6f3bf
X:130412551 IGSF1 C>T	X	130412551	130412551	C	T	IGSF1	c.1940G>A	NM_001170961.1	NP_001164432.1:p.(Arg647Gln)	NC_000023.10:g.130412551C>T	VUS	1 lab	51e9efe648
9:134398493 POMT1 G>A	9	134398493	134398493	G	A	POMT1	c.2178G>A	NM_001136113.1	NP_001129585.1:p.(Ter726=)	NC_000009.11:g.134398493G>A	(Likely) benign	1 lab	51ea05b081
10:112590829 RBM20 C>T	10	112590829	112590829	C	T	RBM20	c.3462C>T	NM_001134363.1	NP_001127835.1:p.(Phe1154=)	NC_000010.10:g.112590829C>T	(Likely) benign	1 lab	51eab4ad24
8:145001900 PLEC G>A	8	145001900	145001900	G	A	PLEC	c.3515C>T	NM_000445.5	NP_000436.2:p.(Thr1172Met)	NC_000008.10:g.145001900G>A	VUS	1 lab	f0adb1183f
16:5037628 SEC14L5 C>A	16	5037628	5037628	C	A	SEC14L5	c.134C>A	NM_014692.2	NP_055507.1:p.(Ser45Tyr)	NC_000016.9:g.5037628C>A	VUS	1 lab	51eb9e72a2
6:152712562 SYNE1 G>A	6	152712562	152712562	G	A	SYNE1	c.7854C>T	NM_182961.3	NP_892006.3:p.(Ser2618=)	NC_000006.11:g.152712562G>A	(Likely) benign	1 lab	51ec55511d
10:102766875 LZTS2 G>A	10	102766875	102766875	G	A	LZTS2	c.1960G>A	NM_032429.3	NP_115805.1:p.(Glu654Lys)	NC_000010.10:g.102766875G>A	(Likely) benign	1 lab	51ee56cae6
14:58979320 KIAA0586 T>C	14	58979320	58979320	T	C	KIAA0586	c.4404T>C	NM_001329943.2	NP_001316872.1:p.(Ser1468=)	NC_000014.8:g.58979320T>C	(Likely) benign	1 lab	51f0e36794
X:9863668 SHROOM2 G>T	X	9863668	9863668	G	T	SHROOM2	c.1720G>T	NM_001649.3	NP_001640.1:p.(Gly574Trp)	NC_000023.10:g.9863668G>T	(Likely) benign	1 lab	51f1d1b294
7:6013060 PMS2 G>C	7	6013060	6013060	G	C	PMS2	c.2250C>G	NM_001322015.1	NP_001308944.1:p.(Ile750Met)	NC_000007.13:g.6013060G>C	VUS	1 lab	51f23594c8
2:128044511 ERCC3 A>G	2	128044511	128044511	A	G	ERCC3	c.918T>C	NM_001303418.1	NP_001290347.1:p.(Ser306=)	NC_000002.11:g.128044511A>G	(Likely) benign	1 lab	51f26b9330
11:17596371 OTOG G>A	11	17596371	17596371	G	A	OTOG	c.2434G>A	NM_001277269.1	NP_001264198.1:p.(Asp812Asn)	NC_000011.9:g.17596371G>A	(Likely) benign	1 lab	51f2c221c0
9:71866197 TJP2 G>A	9	71866197	71866197	G	A	TJP2	c.3238G>A	NM_004817.4	NP_004808.2:p.(Gly1080Ser)	NC_000009.11:g.71866197G>A	VUS	1 lab	51f7eb0208
18:6943171 LAMA1 G>A	18	6943171	6943171	G	A	LAMA1	c.9067+8C>T	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6943171G>A	(Likely) benign	1 lab	51f94becd8
15:79051792 ADAMTS7 G>A	15	79051792	79051792	G	A	ADAMTS7	c.5032C>T	NM_014272.4	NP_055087.2:p.(Arg1678Ter)	NC_000015.9:g.79051792G>A	VUS	1 lab	51fa8ec14b
1:11853973 MTHFR G>A	1	11853973	11853973	G	A	MTHFR	c.1644C>T	NM_001330358.1	NP_001317287.1:p.(Val548=)	NC_000001.10:g.11853973G>A	(Likely) benign	1 lab	51fc8f1f35
7:5254140 WIPI2 G>C	7	5254140	5254140	G	C	WIPI2	c.9G>C	NM_001033520.1	NP_001028692.1:p.(Thr3=)	NC_000007.13:g.5254140G>C	(Likely) benign	1 lab	51fd40267e
15:38643391 SPRED1 T>TA	15	38643391	38643397	T	TA	SPRED1	c.867dup	NM_152594.2	NP_689807.1:p.(Ser290IlefsTer10)	NC_000015.9:g.38643397dup	(Likely) pathogenic	1 lab	51fd73c530
4:183664577 TENM3 G>A	4	183664577	183664577	G	A	TENM3	c.3629+5G>A	NM_001080477.3	NP_001073946.1:p.?	NC_000004.11:g.183664577G>A	VUS	1 lab	51fe9b1312
X:2779675 GYG2 G>A	X	2779675	2779675	G	A	GYG2	c.1043G>A	NM_003918.2	NP_003909.2:p.(Gly348Asp)	NC_000023.10:g.2779675G>A	(Likely) benign	1 lab	51ff05a085
15:45387794 DUOX2 C>T	15	45387794	45387794	C	T	DUOX2	c.4081-1G>A	NM_014080.4	NP_054799.4:p.?	NC_000015.9:g.45387794C>T	(Likely) pathogenic	1 lab	5204a15886
20:61992504 CHRNA4 C>A	20	61992504	61992504	C	A	CHRNA4	c.14G>T	NM_000744.6	NP_000735.1:p.(Gly5Val)	NC_000020.10:g.61992504C>A	VUS	1 lab	52059c36a8
17:44606164 ARL17A G>C	17	44606164	44606164	G	C	ARL17A	c.397C>G	NM_001288811.1	NP_001275740.1:p.(Arg133Gly)	NC_000017.10:g.44606164G>C	VUS	1 lab	520733de59
8:145584489 SLC52A2 C>A	8	145584489	145584489	C	A	SLC52A2	c.1152C>A	NM_001363118.1	NP_001350047.1:p.(Gly384=)	NC_000008.10:g.145584489C>A	(Likely) benign	1 lab	5207f6a814
6:152615265 SYNE1 GT>G	6	152615265	152615266	GT	G	SYNE1	c.17683-4del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152615266del	(Likely) benign	1 lab	52092a4bb7
1:235972178 LYST A>C	1	235972178	235972178	A	C	LYST	c.1940T>G	NM_001301365.1	NP_001288294.1:p.(Leu647Arg)	NC_000001.10:g.235972178A>C	VUS	1 lab	520a1c0b21
5:110560342 CAMK4 G>C	5	110560342	110560342	G	C	CAMK4	c.161G>C	NM_001744.6	NP_001735.1:p.(Arg54Pro)	NC_000005.9:g.110560342G>C	VUS	1 lab	f0ae0926dd
2:110927467 NPHP1 A>G	2	110927467	110927467	A	G	NPHP1	c.438T>C	NM_000272.3	NP_000263.2:p.(Asn146=)	NC_000002.11:g.110927467A>G	(Likely) benign	1 lab	520ce00000
17:78086475 GAA G>A	17	78086475	78086475	G	A	GAA	c.1853G>A	NM_000152.3	NP_000143.2:p.(Trp618Ter)	NC_000017.10:g.78086475G>A	(Likely) pathogenic	1 lab	520e0a6449
5:176637380 NSD1 C>T	5	176637380	176637380	C	T	NSD1	c.1980C>T	NM_022455.4	NP_071900.2:p.(Asn660=)	NC_000005.9:g.176637380C>T	(Likely) benign	1 lab	520e8ed316
3:132440816 NPHP3 G>C	3	132440816	132440816	G	C	NPHP3	c.384C>G	NM_153240.4	NP_694972.3:p.(Ala128=)	NC_000003.11:g.132440816G>C	(Likely) benign	1 lab	521042ad77
17:1637277 WDR81 G>C	17	1637277	1637277	G	C	WDR81	c.4946G>C	NM_001163809.1	NP_001157281.1:p.(Gly1649Ala)	NC_000017.10:g.1637277G>C	VUS	1 lab	5211cdf5b6
11:1267049 MUC5B C>T	11	1267049	1267049	C	T	MUC5B	c.8939C>T	NM_002458.2	NP_002449.2:p.(Thr2980Met)	NC_000011.9:g.1267049C>T	VUS	1 lab	5211f6590b
10:100177358 HPS1 C>T	10	100177358	100177358	C	T	HPS1	c.1094G>A	NM_001322487.1	NP_001309416.1:p.(Arg365Gln)	NC_000010.10:g.100177358C>T	(Likely) benign	1 lab	5212f0d3c4
16:71009101 HYDIN T>G	16	71009101	71009101	T	G	HYDIN	c.4710A>C	NM_001270974.2	NP_001257903.1:p.(Thr1570=)	NC_000016.9:g.71009101T>G	(Likely) benign	1 lab	52133c5d54
6:152740708 SYNE1 T>C	6	152740708	152740708	T	C	SYNE1	c.5417A>G	NM_182961.3	NP_892006.3:p.(His1806Arg)	NC_000006.11:g.152740708T>C	(Likely) benign	1 lab	521374fdd6
14:105410803 AHNAK2 T>C	14	105410803	105410803	T	C	AHNAK2	c.10985A>G	NM_138420.3	NP_612429.2:p.(Asp3662Gly)	NC_000014.8:g.105410803T>C	(Likely) benign	1 lab	5213fa625d
11:120302598 ARHGEF12 G>C	11	120302598	120302598	G	C	ARHGEF12	c.902G>C	NM_015313.2	NP_056128.1:p.(Arg301Pro)	NC_000011.9:g.120302598G>C	VUS	1 lab	5214262b35
12:133253129 POLE C>G	12	133253129	133253129	C	G	POLE	c.909+3G>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133253129C>G	VUS	1 lab	f0ae67b0e8
8:61761609 CHD7 G>A	8	61761609	61761609	G	A	CHD7				NC_000008.10:g.61761609G>A	(Likely) pathogenic	1 lab	52199ab901
X:153420112 OPN1LW C>T	X	153420112	153420112	C	T	OPN1LW	c.642C>T	NM_020061.5	NP_064445.2:p.(Pro214=)	NC_000023.10:g.153420112C>T	(Likely) benign	1 lab	5219dc8f09
X:65413454 HEPH A>G	X	65413454	65413454	A	G	HEPH	c.1505A>G	NM_138737.4	NP_620074.3:p.(Glu502Gly)	NC_000023.10:g.65413454A>G	(Likely) benign	1 lab	521a302feb
11:121403254 SORL1 G>A	11	121403254	121403254	G	A	SORL1	c.1678G>A	NM_003105.5	NP_003096.1:p.(Glu560Lys)	NC_000011.9:g.121403254G>A	(Likely) benign	1 lab	521a870d58
19:10262134 DNMT1 G>A	19	10262134	10262134	G	A	DNMT1	c.2157C>T	NM_001379.3	NP_001370.1:p.(His719=)	NC_000019.9:g.10262134G>A	(Likely) benign	1 lab	521f0172e9
12:112037075 ATXN2 T>C	12	112037075	112037075	T	C	ATXN2	c.244A>G	NM_002973.3	NP_002964.3:p.(Asn82Asp)	NC_000012.11:g.112037075T>C	(Likely) benign	1 lab	521f83b2d2
16:88503394 ZNF469 C>T	16	88503394	88503394	C	T	ZNF469				NC_000016.9:g.88503394C>T	(Likely) benign	1 lab	5220a8356b
16:88499522 ZNF469 G>A	16	88499522	88499522	G	A	ZNF469				NC_000016.9:g.88499522G>A	(Likely) benign	1 lab	52211a131c
3:189675784 P3H2 G>A	3	189675784	189675784	G	A	P3H2	c.2044C>T	NM_018192.4	NP_060662.2:p.(Gln682Ter)	NC_000003.11:g.189675784G>A	VUS	1 lab	5221ab7834
9:135779138 TSC1 AGTAACTG>A	9	135779138	135779147	AGTAACTG	A	TSC1	c.2101_2107del	NM_000368.5	NP_000359.1:p.(Gln701SerfsTer21)	NC_000009.11:g.135779141_135779147del	(Likely) pathogenic	1 lab	52245f86f5
11:27389686 LGR4 C>T	11	27389686	27389686	C	T	LGR4	c.2584G>A	NM_018490.3	NP_060960.2:p.(Glu862Lys)	NC_000011.9:g.27389686C>T	VUS	1 lab	5224fc8925
5:36985138 NIPBL G>A	5	36985138	36985138	G	A	NIPBL	c.1856G>A	NM_015384.4	NP_056199.2:p.(Arg619Lys)	NC_000005.9:g.36985138G>A	VUS	1 lab	52250815f2
18:56409219 MALT1 C>CATT	18	56409219	56409220	C	CATT	MALT1	c.1726_1727insATT	NM_006785.4	NP_006776.1:p.(Arg576delinsHisTrp)	NC_000018.9:g.56409219_56409220insATT	VUS	1 lab	5226f2ac06
9:131345368 SPTAN1 C>A	9	131345368	131345368	C	A	SPTAN1	c.1819C>A	NM_001130438.2	NP_001123910.1:p.(Leu607Ile)	NC_000009.11:g.131345368C>A	VUS	1 lab	52274638cc
16:28944680 CD19 G>A	16	28944680	28944680	G	A	CD19	c.685G>A	NM_001178098.1	NP_001171569.1:p.(Glu229Lys)	NC_000016.9:g.28944680G>A	(Likely) benign	1 lab	5227cc83e1
2:32449672 NLRC4 G>C	2	32449672	32449672	G	C	NLRC4	c.2945C>G	NM_021209.4	NP_067032.3:p.(Ala982Gly)	NC_000002.11:g.32449672G>C	(Likely) benign	1 lab	52290ebcea
9:139412630 NOTCH1 G>A	9	139412630	139412630	G	A	NOTCH1	c.1214C>T	NM_017617.5	NP_060087.3:p.(Thr405Met)	NC_000009.11:g.139412630G>A	(Likely) benign	1 lab	522afedc5b
22:38379636 SOX10 GC>G	22	38379636	38379639	GC	G	SOX10	c.155del	NM_006941.4	NP_008872.1:p.(Gly52AlafsTer57)	NC_000022.10:g.38379639del	(Likely) pathogenic	1 lab	522c8e05d8
5:89990489 ADGRV1 GT>G	5	89990489	89990490	GT	G	ADGRV1	c.7917del	NM_032119.4	NP_115495.3:p.(Ala2640LeufsTer5)	NC_000005.9:g.89990490del	(Likely) pathogenic	1 lab	522cb3a7be
12:49434465 KMT2D GGA>G	12	49434465	49434468	GGA	G	KMT2D	c.7086_7087del	NM_003482.4	NP_003473.3:p.(Pro2363LysfsTer13)	NC_000012.11:g.49434467_49434468del	(Likely) pathogenic	1 lab	522d94fab5
5:140070796 HARS1 T>G	5	140070796	140070796	T	G	HARS1	c.90+4A>C	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140070796T>G	VUS	1 lab	522e32c54a
3:45266987 TMEM158 G>C	3	45266987	45266987	G	C	TMEM158	c.533C>G	NM_015444.2	NP_056259.2:p.(Ala178Gly)	NC_000003.11:g.45266987G>C	(Likely) benign	1 lab	522f0bd36a
X:103358851 ZCCHC18 C>T	X	103358851	103358851	C	T	ZCCHC18	c.49C>T	NM_001143978.3	NP_001137450.1:p.(Pro17Ser)	NC_000023.10:g.103358851C>T	(Likely) benign	1 lab	522f2b8766
9:139836657 FBXW5 G>A	9	139836657	139836657	G	A	FBXW5	c.937C>T	NM_018998.4	NP_061871.1:p.(Arg313Trp)	NC_000009.11:g.139836657G>A	(Likely) benign	1 lab	5230697f06
13:32954245 BRCA2 C>A	13	32954245	32954245	C	A	BRCA2	c.9219C>A	NM_000059.3	NP_000050.2:p.(Asp3073Glu)	NC_000013.10:g.32954245C>A	(Likely) pathogenic	1 lab	5231e53141
7:55214367 EGFR C>T	7	55214367	55214367	C	T	EGFR	c.493C>T	NM_005228.3	NP_005219.2:p.(Arg165Trp)	NC_000007.13:g.55214367C>T	VUS	1 lab	523230ab4c
11:82997192 CCDC90B G>C	11	82997192	82997192	G	C	CCDC90B	c.24C>G	NM_001286116.1	NP_001273045.1:p.(Val8=)	NC_000011.9:g.82997192G>C	(Likely) benign	1 lab	5234359646
1:110607221 ALX3 CTCAG>C	1	110607221	110607229	CTCAG	C	ALX3	c.578_581del	NM_006492.3	NP_006483.2:p.(Thr193ArgfsTer137)	NC_000001.10:g.110607226_110607229del	(Likely) pathogenic	1 lab	5234ff05be
8:145641204 SLC39A4 G>A	8	145641204	145641204	G	A	SLC39A4	c.389C>T	NM_017767.2	NP_060237.2:p.(Thr130Ile)	NC_000008.10:g.145641204G>A	(Likely) benign	1 lab	5235da5c49
5:156895764 NIPAL4 C>A	5	156895764	156895764	C	A	NIPAL4	c.555C>A	NM_001099287.1	NP_001092757.1:p.(Tyr185Ter)	NC_000005.9:g.156895764C>A	(Likely) pathogenic	1 lab	5235e08a7f
18:67687860 RTTN T>C	18	67687860	67687860	T	C	RTTN	c.6144A>G	NM_173630.3	NP_775901.3:p.(Val2048=)	NC_000018.9:g.67687860T>C	(Likely) benign	1 lab	5235e83a64
11:44289063 ALX4 C>T	11	44289063	44289063	C	T	ALX4	c.887G>A	NM_021926.4	NP_068745.2:p.(Arg296Gln)	NC_000011.9:g.44289063C>T	VUS	1 lab	5236d048f1
2:191851646 STAT1 C>T	2	191851646	191851646	C	T	STAT1	c.1155G>A	NM_007315.3	NP_009330.1:p.(Thr385=)	NC_000002.11:g.191851646C>T	(Likely) benign	1 lab	523883ce01
2:43924411 PLEKHH2 A>G	2	43924411	43924411	A	G	PLEKHH2	c.604A>G	NM_172069.4	NP_742066.2:p.(Ser202Gly)	NC_000002.11:g.43924411A>G	(Likely) benign	1 lab	52397666c0
2:230657693 TRIP12 A>G	2	230657693	230657693	A	G	TRIP12	c.4137T>C	NM_001348322.1	NP_001335251.1:p.(Val1379=)	NC_000002.11:g.230657693A>G	(Likely) benign	1 lab	523abdf4c1
1:39852865 MACF1 G>A	1	39852865	39852865	G	A	MACF1	c.8165G>A	NM_012090.5	NP_036222.3:p.(Arg2722His)	NC_000001.10:g.39852865G>A	VUS	1 lab	f0b6c3f749
17:61804054 STRADA C>T	17	61804054	61804054	C	T	STRADA	c.38G>A	NM_001003787.3	NP_001003787.1:p.(Arg13Gln)	NC_000017.10:g.61804054C>T	VUS	1 lab	523b50a0d4
X:66931410 AR T>C	X	66931410	66931410	T	C	AR	c.456T>C	NM_001011645.3	NP_001011645.1:p.(Gly152=)	NC_000023.10:g.66931410T>C	(Likely) benign	1 lab	523b995e0f
X:82764176 POU3F4 C>A	X	82764176	82764176	C	A	POU3F4	c.844C>A	NM_000307.4	NP_000298.3:p.(Arg282=)	NC_000023.10:g.82764176C>A	(Likely) benign	1 lab	523ba24bd8
6:32810752 PSMB8 C>G	6	32810752	32810752	C	G	PSMB8	c.250G>C	NM_004159.5	NP_004150.1:p.(Val84Leu)	NC_000006.11:g.32810752C>G	VUS	1 lab	523bd47f09
14:76232677 TTLL5 C>G	14	76232677	76232677	C	G	TTLL5	c.1981C>G	NM_015072.4	NP_055887.3:p.(Leu661Val)	NC_000014.8:g.76232677C>G	VUS	1 lab	523c1bbc7d
1:245582955 KIF26B G>A	1	245582955	245582955	G	A	KIF26B	c.1074G>A	NM_018012.4	NP_060482.2:p.(Lys358=)	NC_000001.10:g.245582955G>A	(Likely) benign	1 lab	523ecc12ac
17:5440185 NLRP1 G>A	17	5440185	5440185	G	A	NLRP1	c.2946C>T	NM_033004.4	NP_127497.1:p.(Leu982=)	NC_000017.10:g.5440185G>A	(Likely) benign	1 lab	523ef18924
1:215847803 USH2A T>C	1	215847803	215847803	T	C	USH2A	c.13450A>G	NM_206933.2	NP_996816.2:p.(Thr4484Ala)	NC_000001.10:g.215847803T>C	(Likely) benign	1 lab	523fe2af36
8:90970964 NBN T>G	8	90970964	90970964	T	G	NBN	c.867A>C	NM_001024688.2	NP_001019859.1:p.(Gln289His)	NC_000008.10:g.90970964T>G	(Likely) benign	1 lab	52409b3571
X:27999108 DCAF8L1 T>TCTTCCTCCTCCC	X	27999108	27999131	T	TCTTCCTCCTCCC	DCAF8L1	c.332_343dup	NM_001017930.1	NP_001017930.1:p.(Gly111_Glu114dup)	NC_000023.10:g.27999120_27999131dup	VUS	1 lab	5240c58518
15:89865218 POLG A>AC	15	89865218	89865220	A	AC	POLG	c.2454dup	NM_002693.3	NP_002684.1:p.(Ser819ValfsTer14)	NC_000015.9:g.89865220dup	(Likely) pathogenic	1 lab	f0b76829ef
10:123279599 FGFR2 C>A	10	123279599	123279599	C	A	FGFR2	c.833G>T	NM_000141.4	NP_000132.3:p.(Cys278Phe)	NC_000010.10:g.123279599C>A	(Likely) pathogenic	1 lab	5243032c41
2:179495763 TTN T>C	2	179495763	179495763	T	C	TTN	c.44012A>G	NM_001267550.1	NP_001254479.1:p.(Glu14671Gly)	NC_000002.11:g.179495763T>C	VUS	1 lab	52448e04a4
6:33271971 TAPBP C>T	6	33271971	33271971	C	T	TAPBP	c.1234G>A	NM_003190.4	NP_003181.3:p.(Asp412Asn)	NC_000006.11:g.33271971C>T	VUS	1 lab	5247974989
19:7620495 PNPLA6 G>C	19	7620495	7620495	G	C	PNPLA6	c.2969G>C	NM_001166111.1	NP_001159583.1:p.(Gly990Ala)	NC_000019.9:g.7620495G>C	VUS	1 lab	52486f99fa
2:152348681 NEB G>A	2	152348681	152348681	G	A	NEB	c.25093C>T	NM_001271208.1	NP_001258137.1:p.(Arg8365Ter)	NC_000002.11:g.152348681G>A	(Likely) pathogenic	1 lab	5248eaee74
1:160283773 COPA A>G	1	160283773	160283773	A	G	COPA	c.842+7T>C	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160283773A>G	(Likely) benign	1 lab	52495bb4ce
17:4910319 KIF1C G>A	17	4910319	4910319	G	A	KIF1C	c.1275G>A	NM_006612.5	NP_006603.2:p.(Pro425=)	NC_000017.10:g.4910319G>A	(Likely) benign	1 lab	52498b71e7
15:30385364 GOLGA8J G>T	15	30385364	30385364	G	T	GOLGA8J	c.1645G>T	NM_001282472.1	NP_001269401.1:p.(Ala549Ser)	NC_000015.9:g.30385364G>T	(Likely) benign	1 lab	524b3f9882
22:16287431 POTEH T>C	22	16287431	16287431	T	C	POTEH	c.455A>G	NM_001136213.1	NP_001129685.1:p.(Asn152Ser)	NC_000022.10:g.16287431T>C	(Likely) benign	1 lab	524c0e69c2
5:135394862 TGFBI C>T	5	135394862	135394862	C	T	TGFBI	c.1762C>T	NM_000358.2	NP_000349.1:p.(Arg588Trp)	NC_000005.9:g.135394862C>T	VUS	1 lab	524d74930a
5:35039443 AGXT2 A>T	5	35039443	35039443	A	T	AGXT2	c.348T>A	NM_031900.4	NP_114106.1:p.(Val116=)	NC_000005.9:g.35039443A>T	(Likely) benign	1 lab	525bb9bd9b
17:78032354 CCDC40 C>T	17	78032354	78032354	C	T	CCDC40	c.1221C>T	NM_017950.3	NP_060420.2:p.(Ile407=)	NC_000017.10:g.78032354C>T	(Likely) benign	1 lab	524f960347
9:13123298 MPDZ C>A	9	13123298	13123298	C	A	MPDZ	c.4808-1G>T	NM_001330637.1	NP_001317566.1:p.?	NC_000009.11:g.13123298C>A	(Likely) pathogenic	1 lab	524fef2715
4:183714487 TENM3 G>A	4	183714487	183714487	G	A	TENM3	c.6662G>A	NM_001080477.3	NP_001073946.1:p.(Ser2221Asn)	NC_000004.11:g.183714487G>A	VUS	1 lab	5250eb6e5b
6:158567937 SERAC1 T>C	6	158567937	158567937	T	C	SERAC1	c.364A>G	NM_032861.3	NP_116250.3:p.(Ser122Gly)	NC_000006.11:g.158567937T>C	VUS	1 lab	5251d59e44
X:14038517 GEMIN8 T>C	X	14038517	14038517	T	C	GEMIN8	c.152A>G	NM_017856.2	NP_060326.1:p.(Asn51Ser)	NC_000023.10:g.14038517T>C	VUS	1 lab	52527da8bc
1:17328578 ATP13A2 T>C	1	17328578	17328578	T	C	ATP13A2	c.641A>G	NM_001141973.2	NP_001135445.1:p.(Asn214Ser)	NC_000001.10:g.17328578T>C	VUS	1 lab	5257ecb699
12:100433433 BLTP3B G>T	12	100433433	100433433	G	T	BLTP3B	c.4216C>A	NM_015054.2	NP_055869.1:p.(Pro1406Thr)	NC_000012.11:g.100433433G>T	(Likely) benign	1 lab	5258326532
12:6954902 GNB3 A>G	12	6954902	6954902	A	G	GNB3	c.852A>G	NM_002075.3	NP_002066.1:p.(Leu284=)	NC_000012.11:g.6954902A>G	(Likely) benign	1 lab	5258e922bd
13:20797215 GJB6 C>T	13	20797215	20797215	C	T	GJB6	c.405G>A	NM_001110219.3	NP_001103689.1:p.(Thr135=)	NC_000013.10:g.20797215C>T	(Likely) benign	1 lab	525b36c564
19:55281324 KIR2DL1 A>G	19	55281324	55281324	A	G	KIR2DL1	c.22A>G	NM_014218.2	NP_055033.2:p.(Met8Val)	NC_000019.9:g.55281324A>G	(Likely) benign	1 lab	525b38870c
17:79966910 ASPSCR1 C>CAGCCCGTGGACCGGG	17	79966910	79966944	C	CAGCCCGTGGACCGGG	ASPSCR1	c.951_965dup	NM_001251888.1	NP_001238817.1:p.(Asp319_Val323dup)	NC_000017.10:g.79966930_79966944dup	VUS	1 lab	525b918e15
17:39023248 KRT12 C>G	17	39023248	39023248	C	G	KRT12	c.191G>C	NM_000223.4	NP_000214.1:p.(Gly64Ala)	NC_000017.10:g.39023248C>G	(Likely) benign	1 lab	525d48d344
4:79437026 FRAS1 T>C	4	79437026	79437026	T	C	FRAS1	c.10248T>C	NM_025074.7	NP_079350.5:p.(Phe3416=)	NC_000004.11:g.79437026T>C	(Likely) benign	1 lab	525f11c3b7
8:145737135 RECQL4 C>T	8	145737135	145737135	C	T	RECQL4	c.3431G>A	NM_004260.3	NP_004251.3:p.(Arg1144His)	NC_000008.10:g.145737135C>T	(Likely) benign	1 lab	525fce8a97
21:47685436 MCM3AP G>A	21	47685436	47685436	G	A	MCM3AP	c.3033C>T	NM_003906.4	NP_003897.2:p.(Gly1011=)	NC_000021.8:g.47685436G>A	(Likely) benign	1 lab	525fda3c4b
4:2744229 TNIP2 C>T	4	2744229	2744229	C	T	TNIP2	c.1045G>A	NM_024309.3	NP_077285.3:p.(Ala349Thr)	NC_000004.11:g.2744229C>T	(Likely) benign	1 lab	525ffc572a
6:88224146 RARS2 A>G	6	88224146	88224146	A	G	RARS2	c.1197T>C	NM_001350508.2	NP_001337437.1:p.(Pro399=)	NC_000006.11:g.88224146A>G	(Likely) benign	1 lab	f0bf5b947c
6:152668215 SYNE1 C>T	6	152668215	152668215	C	T	SYNE1	c.12057G>A	NM_182961.3	NP_892006.3:p.(Ala4019=)	NC_000006.11:g.152668215C>T	(Likely) benign	1 lab	52622a9809
2:74594191 DCTN1 C>T	2	74594191	74594191	C	T	DCTN1	c.2297G>A	NM_004082.4	NP_004073.2:p.(Arg766Gln)	NC_000002.11:g.74594191C>T	VUS	1 lab	52624d1034
3:170216524 SLC7A14 C>T	3	170216524	170216524	C	T	SLC7A14	c.691G>A	NM_020949.2	NP_066000.2:p.(Ala231Thr)	NC_000003.11:g.170216524C>T	VUS	1 lab	5262711fbc
5:138714322 SLC23A1 C>T	5	138714322	138714322	C	T	SLC23A1	c.1137G>A	NM_152685.3	NP_689898.2:p.(Thr379=)	NC_000005.9:g.138714322C>T	(Likely) benign	1 lab	52635d288e
2:98732124 VWA3B C>T	2	98732124	98732124	C	T	VWA3B	c.206C>T	NM_144992.4	NP_659429.4:p.(Ala69Val)	NC_000002.11:g.98732124C>T	(Likely) benign	1 lab	52647d77a1
1:183086670 LAMC1 A>G	1	183086670	183086670	A	G	LAMC1	c.1689A>G	NM_002293.3	NP_002284.3:p.(Ala563=)	NC_000001.10:g.183086670A>G	(Likely) benign	1 lab	5265cc1096
X:10423076 MID1 G>A	X	10423076	10423076	G	A	MID1	c.1489C>T	NM_000381.3	NP_000372.1:p.(Leu497=)	NC_000023.10:g.10423076G>A	(Likely) benign	1 lab	5265f874f9
18:44702578 IER3IP1 T>G	18	44702578	44702578	T	G	IER3IP1	c.71A>C	NM_016097.4	NP_057181.1:p.(Glu24Ala)	NC_000018.9:g.44702578T>G	VUS	1 lab	526613e902
12:48377231 COL2A1 G>A	12	48377231	48377231	G	A	COL2A1	c.1996-10C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48377231G>A	(Likely) benign	1 lab	5266c1dc4f
10:28824604 WAC T>C	10	28824604	28824604	T	C	WAC	c.57T>C	NM_100264.2	NP_567822.1:p.(Ser19=)	NC_000010.10:g.28824604T>C	(Likely) benign	1 lab	5267112079
18:31319954 ASXL3 A>G	18	31319954	31319954	A	G	ASXL3	c.2586A>G	NM_030632.2	NP_085135.1:p.(Lys862=)	NC_000018.9:g.31319954A>G	(Likely) benign	1 lab	5269208a03
X:117788708 DOCK11 C>T	X	117788708	117788708	C	T	DOCK11	c.4839C>T	NM_144658.3	NP_653259.3:p.(Ser1613=)	NC_000023.10:g.117788708C>T	(Likely) benign	1 lab	526a60893e
16:69727820 NFAT5 A>G	16	69727820	69727820	A	G	NFAT5	c.3810A>G	NM_138714.3	NP_619728.2:p.(Ser1270=)	NC_000016.9:g.69727820A>G	(Likely) benign	1 lab	526b13d761
15:40916841 KNL1 T>C	15	40916841	40916841	T	C	KNL1	c.4457T>C	NM_170589.4	NP_733468.3:p.(Ile1486Thr)	NC_000015.9:g.40916841T>C	(Likely) benign	1 lab	526b675c11
2:25965781 ASXL2 T>C	2	25965781	25965781	T	C	ASXL2	c.3425A>G	NM_018263.6	NP_060733.4:p.(His1142Arg)	NC_000002.11:g.25965781T>C	VUS	1 lab	f0c27ce5ce
4:79391175 FRAS1 C>T	4	79391175	79391175	C	T	FRAS1	c.7301C>T	NM_025074.7	NP_079350.5:p.(Pro2434Leu)	NC_000004.11:g.79391175C>T	VUS	1 lab	526c9c3255
9:139399434 NOTCH1 G>A	9	139399434	139399434	G	A	NOTCH1	c.4709C>T	NM_017617.5	NP_060087.3:p.(Ala1570Val)	NC_000009.11:g.139399434G>A	VUS	1 lab	526cfa754a
10:73545381 CDH23 A>T	10	73545381	73545381	A	T	CDH23	c.5713-7A>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73545381A>T	(Likely) benign	1 lab	526f491e4c
19:42855822 MEGF8 C>T	19	42855822	42855822	C	T	MEGF8	c.2809C>T	NM_001410.3	NP_001401.2:p.(Arg937Trp)	NC_000019.9:g.42855822C>T	VUS	1 lab	f0c30e4505
8:87470236 WWP1 A>G	8	87470236	87470236	A	G	WWP1	c.2481A>G	NM_007013.3	NP_008944.1:p.(Gln827=)	NC_000008.10:g.87470236A>G	(Likely) benign	1 lab	527165ceec
X:153175788 ARHGAP4 G>A	X	153175788	153175788	G	A	ARHGAP4	c.2113C>T	NM_001164741.1	NP_001158213.1:p.(Leu705=)	NC_000023.10:g.153175788G>A	(Likely) benign	1 lab	5271e9487a
11:76830201 CAPN5 G>A	11	76830201	76830201	G	A	CAPN5	c.1290+3G>A	NM_004055.4	NP_004046.2:p.?	NC_000011.9:g.76830201G>A	(Likely) benign	1 lab	527862540b
11:47298336 MADD C>T	11	47298336	47298336	C	T	MADD	c.1017C>T	NM_003682.3	NP_003673.3:p.(Phe339=)	NC_000011.9:g.47298336C>T	(Likely) benign	1 lab	527a9403c9
13:32914768 BRCA2 T>TC	13	32914768	32914769	T	TC	BRCA2	c.6277dup	NM_000059.3	NP_000050.2:p.(His2093ProfsTer7)	NC_000013.10:g.32914769dup	(Likely) pathogenic	1 lab	527c25ef7f
8:30705536 TEX15 C>T	8	30705536	30705536	C	T	TEX15	c.2147G>A	NM_001350162.1	NP_001337091.1:p.(Ser716Asn)	NC_000008.10:g.30705536C>T	(Likely) benign	1 lab	527eafc413
2:241528869 CAPN10 A>G	2	241528869	241528869	A	G	CAPN10	c.251A>G	NM_023083.4	NP_075571.2:p.(Lys84Arg)	NC_000002.11:g.241528869A>G	VUS	1 lab	f0c3f258d6
12:49432273 KMT2D T>C	12	49432273	49432273	T	C	KMT2D	c.8866A>G	NM_003482.3	NP_003473.3:p.(Thr2956Ala)	NC_000012.11:g.49432273T>C	(Likely) benign	1 lab	527f70a7d9
2:128036960 ERCC3 C>T	2	128036960	128036960	C	T	ERCC3	c.1336-9G>A	NM_001303418.1	NP_001290347.1:p.?	NC_000002.11:g.128036960C>T	(Likely) benign	1 lab	527ff88a90
17:29588784 NF1 T>G	17	29588784	29588784	T	G	NF1	c.4570T>G	NM_000267.3	NP_000258.1:p.(Tyr1524Asp)	NC_000017.10:g.29588784T>G	VUS	1 lab	528048d510
1:211280726 KCNH1 A>C	1	211280726	211280726	A	C	KCNH1	c.80-7T>G	NM_172362.2	NP_758872.1:p.?	NC_000001.10:g.211280726A>C	(Likely) benign	1 lab	528073664a
16:2141014 PKD1 G>A	16	2141014	2141014	G	A	PKD1	c.11874C>T	NM_001009944.2	NP_001009944.2:p.(Ala3958=)	NC_000016.9:g.2141014G>A	(Likely) benign	1 lab	528228b0e6
17:10303928 MYH8 C>A	17	10303928	10303928	C	A	MYH8	c.3514G>T	NM_002472.2	NP_002463.2:p.(Ala1172Ser)	NC_000017.10:g.10303928C>A	VUS	1 lab	52822f51f9
1:23419284 LUZP1 TC>T	1	23419284	23419288	TC	T	LUZP1	c.1470del	NM_001395462.2	NP_001382391.1:p.(Thr491LeufsTer10)	NC_000001.10:g.23419288del	(Likely) pathogenic	1 lab	5282a61a4a
8:27320946 CHRNA2 G>A	8	27320946	27320946	G	A	CHRNA2	c.1014C>T	NM_000742.3	NP_000733.2:p.(Phe338=)	NC_000008.10:g.27320946G>A	(Likely) benign	1 lab	5285780b06
6:152774863 SYNE1 G>A	6	152774863	152774863	G	A	SYNE1	c.2893-8C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152774863G>A	(Likely) benign	1 lab	528622bb47
16:89256898 CDH15 G>A	16	89256898	89256898	G	A	CDH15	c.1226G>A	NM_004933.2	NP_004924.1:p.(Arg409Lys)	NC_000016.9:g.89256898G>A	VUS	1 lab	5286347212
8:145739007 RECQL4 G>C	8	145739007	145739007	G	C	RECQL4	c.2148C>G	NM_004260.3	NP_004251.3:p.(Ile716Met)	NC_000008.10:g.145739007G>C	VUS	1 lab	5288318b30
8:100865769 VPS13B T>G	8	100865769	100865769	T	G	VPS13B	c.10227T>G	NM_017890.4	NP_060360.3:p.(Ala3409=)	NC_000008.10:g.100865769T>G	(Likely) benign	1 lab	52894ee3cb
17:78321665 RNF213 A>G	17	78321665	78321665	A	G	RNF213	c.9530A>G	NM_001256071.2	NP_001243000.2:p.(Asn3177Ser)	NC_000017.10:g.78321665A>G	(Likely) benign	1 lab	528a41d1f9
X:66905854 AR A>T	X	66905854	66905854	A	T	AR	c.1771A>T	NM_000044.4	NP_000035.2:p.(Lys591Ter)	NC_000023.10:g.66905854A>T	(Likely) pathogenic	1 lab	528ab1a9a6
X:128682589 OCRL T>C	X	128682589	128682589	T	C	OCRL	c.238+11T>C	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128682589T>C	(Likely) benign	1 lab	528ae6e89a
X:6452075 VCX3A G>A	X	6452075	6452075	G	A	VCX3A	c.272C>T	NM_016379.3	NP_057463.2:p.(Pro91Leu)	NC_000023.10:g.6452075G>A	VUS	1 lab	528b770bea
22:39496301 APOBEC3H CG>C	22	39496301	39496302	CG	C	APOBEC3H	c.19del	NM_181773.5	NP_861438.3:p.(Glu7LysfsTer28)	NC_000022.10:g.39496302del	VUS	1 lab	528cb6b285
2:191843583 STAT1 G>A	2	191843583	191843583	G	A	STAT1	c.1872C>T	NM_007315.3	NP_009330.1:p.(Gly624=)	NC_000002.11:g.191843583G>A	(Likely) benign	1 lab	528d70f7d3
X:65252419 VSIG4 G>A	X	65252419	65252419	G	A	VSIG4	c.585C>T	NM_001184830.1	NP_001171759.1:p.(Thr195=)	NC_000023.10:g.65252419G>A	(Likely) benign	1 lab	528ee84ad5
X:49088325 CACNA1F G>A	X	49088325	49088325	G	A	CACNA1F	c.90C>T	NM_005183.3	NP_005174.2:p.(Pro30=)	NC_000023.10:g.49088325G>A	(Likely) benign	1 lab	528f401d84
2:84931183 DNAH6 A>G	2	84931183	84931183	A	G	DNAH6	c.8230-8A>G	NM_001370.2	NP_001361.1:p.?	NC_000002.11:g.84931183A>G	VUS	1 lab	f0c9623b0d
X:103268220 H2BW1 C>T	X	103268220	103268220	C	T	H2BW1	c.13G>A	NM_001002916.4	NP_001002916.3:p.(Glu5Lys)	NC_000023.10:g.103268220C>T	(Likely) benign	1 lab	52912efe43
1:12064067 MFN2 G>A	1	12064067	12064067	G	A	MFN2	c.1179G>A	NM_014874.3	NP_055689.1:p.(Met393Ile)	NC_000001.10:g.12064067G>A	(Likely) benign	1 lab	5291d28577
1:78407868 NEXN G>C	1	78407868	78407868	G	C	NEXN	c.1634G>C	NM_144573.3	NP_653174.3:p.(Arg545Thr)	NC_000001.10:g.78407868G>C	(Likely) benign	1 lab	5291f0c858
X:70523325 ITGB1BP2 A>T	X	70523325	70523325	A	T	ITGB1BP2	c.427A>T	NM_012278.3	NP_036410.1:p.(Ile143Phe)	NC_000023.10:g.70523325A>T	VUS	1 lab	529272c85e
22:19868172 TXNRD2 C>G	22	19868172	19868172	C	G	TXNRD2	c.1155G>C	NM_006440.3	NP_006431.2:p.(Gly385=)	NC_000022.10:g.19868172C>G	(Likely) benign	1 lab	52938c46ca
3:180705871 DNAJC19 C>T	3	180705871	180705871	C	T	DNAJC19	c.69G>A	NM_145261.3	NP_660304.1:p.(Leu23=)	NC_000003.11:g.180705871C>T	(Likely) benign	1 lab	52946b8584
X:17653720 NHS G>A	X	17653720	17653720	G	A	NHS	c.34G>A	NM_001136024.3	NP_001129496.1:p.(Ala12Thr)	NC_000023.10:g.17653720G>A	VUS	1 lab	52950bf21c
6:2955883 SERPINB6 C>T	6	2955883	2955883	C	T	SERPINB6	c.187G>A	NM_001297699.1	NP_001284628.1:p.(Gly63Ser)	NC_000006.11:g.2955883C>T	VUS	1 lab	52964f307f
16:82673024 CDH13 GC>G	16	82673024	82673027	GC	G	CDH13	c.45+12285del	NM_001257.5	NP_001248.1:p.?	NC_000016.9:g.82673027del	VUS	1 lab	5298320c91
11:4108060 STIM1 G>A	11	4108060	4108060	G	A	STIM1	c.1828G>A	NM_001277961.1	NP_001264890.1:p.(Ala610Thr)	NC_000011.9:g.4108060G>A	VUS	1 lab	52986bb1e3
4:99355156 RAP1GDS1 G>C	4	99355156	99355156	G	C	RAP1GDS1	c.1513G>C	NM_001100426.1	NP_001093896.1:p.(Val505Leu)	NC_000004.11:g.99355156G>C	(Likely) benign	1 lab	5299ad4b21
17:39019841 KRT12 TCTC>T	17	39019841	39019846	TCTC	T	KRT12	c.988_990del	NM_000223.4	NP_000214.1:p.(Glu330del)	NC_000017.10:g.39019844_39019846del	VUS	1 lab	529a2e23ab
1:45308561 PTCH2 G>A	1	45308561	45308561	G	A	PTCH2	c.44C>T	NM_001166292.1	NP_001159764.1:p.(Thr15Ile)	NC_000001.10:g.45308561G>A	(Likely) benign	1 lab	529a3b279f
X:5811268 NLGN4X C>T	X	5811268	5811268	C	T	NLGN4X	c.2041G>A	NM_001282145.1	NP_001269074.1:p.(Val681Ile)	NC_000023.10:g.5811268C>T	VUS	1 lab	529b171ab1
3:186954138 MASP1 C>T	3	186954138	186954138	C	T	MASP1	c.1521G>A	NM_139125.3	NP_624302.1:p.(Thr507=)	NC_000003.11:g.186954138C>T	(Likely) benign	1 lab	529b8e3349
16:23847583 PRKCB G>A	16	23847583	23847583	G	A	PRKCB	c.87G>A	NM_002738.6	NP_002729.2:p.(Lys29=)	NC_000016.9:g.23847583G>A	(Likely) benign	1 lab	529bddf962
X:8433890 VCX3B C>T	X	8433890	8433890	C	T	VCX3B	c.207C>T	NM_001001888.3	NP_001001888.3:p.(Ser69=)	NC_000023.10:g.8433890C>T	(Likely) benign	1 lab	529dec8b90
9:117848659 TNC C>T	9	117848659	117848659	C	T	TNC	c.1351G>A	NM_002160.3	NP_002151.2:p.(Glu451Lys)	NC_000009.11:g.117848659C>T	(Likely) benign	1 lab	529eea6320
22:50512770 MLC1 G>A	22	50512770	50512770	G	A	MLC1	c.598-9C>T	NM_015166.3	NP_055981.1:p.?	NC_000022.10:g.50512770G>A	(Likely) benign	1 lab	529f17bc8b
9:139400042 NOTCH1 C>G	9	139400042	139400042	C	G	NOTCH1	c.4306G>C	NM_017617.5	NP_060087.3:p.(Ala1436Pro)	NC_000009.11:g.139400042C>G	(Likely) benign	1 lab	52a0c1062a
11:118392075 KMT2A C>T	11	118392075	118392075	C	T	KMT2A	c.11586C>T	NM_001197104.1	NP_001184033.1:p.(Ala3862=)	NC_000011.9:g.118392075C>T	(Likely) benign	1 lab	52a10d9d82
X:102754888 RAB40A G>T	X	102754888	102754888	G	T	RAB40A	c.797C>A	NM_080879.2	NP_543155.2:p.(Pro266His)	NC_000023.10:g.102754888G>T	VUS	1 lab	52a1f68ee4
21:45196117 CSTB C>T	21	45196117	45196117	C	T	CSTB	c.34G>A	NM_000100.3	NP_000091.1:p.(Ala12Thr)	NC_000021.8:g.45196117C>T	VUS	1 lab	52a21e32db
19:41860760 B9D2 G>A	19	41860760	41860760	G	A	B9D2	c.373C>T	NM_030578.3	NP_085055.2:p.(Arg125Trp)	NC_000019.9:g.41860760G>A	VUS	1 lab	52a3152100
2:37473268 NDUFAF7 T>C	2	37473268	37473268	T	C	NDUFAF7	c.866T>C	NM_144736.4	NP_653337.1:p.(Ile289Thr)	NC_000002.11:g.37473268T>C	VUS	1 lab	52a32f570b
15:62207911 VPS13C A>T	15	62207911	62207911	A	T	VPS13C	c.8366T>A	NM_001018088.2	NP_001018098.1:p.(Ile2789Asn)	NC_000015.9:g.62207911A>T	VUS	1 lab	52a3c97729
14:77767604 POMT2 C>T	14	77767604	77767604	C	T	POMT2	c.657-12G>A	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77767604C>T	(Likely) benign	1 lab	5d99cb4a37
1:40773150 COL9A2 G>T	1	40773150	40773150	G	T	COL9A2	c.976C>A	NM_001852.4	NP_001843.1:p.(Gln326Lys)	NC_000001.10:g.40773150G>T	VUS	1 lab	52a5b7700e
X:63569875 MTMR8 AC>A	X	63569875	63569876	AC	A	MTMR8	c.543del	NM_017677.4	NP_060147.2:p.(Lys181AsnfsTer37)	NC_000023.10:g.63569876del	VUS	1 lab	52a60c34cf
16:57993958 CNGB1 G>A	16	57993958	57993958	G	A	CNGB1	c.595C>T	NM_001297.4	NP_001288.3:p.(Arg199Cys)	NC_000016.9:g.57993958G>A	VUS	1 lab	52a6906b92
X:14877302 FANCB A>G	X	14877302	14877302	A	G	FANCB	c.1104+2T>C	NM_001018113.1	NP_001018123.1:p.?	NC_000023.10:g.14877302A>G	(Likely) pathogenic	1 lab	52a96a632b
7:75611634 POR A>G	7	75611634	75611634	A	G	POR	c.824A>G	NM_001367562.1	NP_001354491.1:p.(Gln275Arg)	NC_000007.13:g.75611634A>G	VUS	1 lab	52aa36edce
6:135308884 HBS1L C>T	6	135308884	135308884	C	T	HBS1L	c.1129G>A	NM_006620.3	NP_006611.1:p.(Glu377Lys)	NC_000006.11:g.135308884C>T	VUS	1 lab	52aaafba0e
15:62208009 VPS13C G>A	15	62208009	62208009	G	A	VPS13C	c.8268C>T	NM_001018088.2	NP_001018098.1:p.(His2756=)	NC_000015.9:g.62208009G>A	(Likely) benign	1 lab	52aae37fa6
12:76425449 PHLDA1 G>A	12	76425449	76425449	G	A	PHLDA1	c.73C>T	NM_007350.3	NP_031376.3:p.(Pro25Ser)	NC_000012.11:g.76425449G>A	VUS	1 lab	52ac10be64
X:152991283 ABCD1 G>A	X	152991283	152991283	G	A	ABCD1	c.562G>A	NM_000033.3	NP_000024.2:p.(Gly188Arg)	NC_000023.10:g.152991283G>A	VUS	1 lab	52ad5facdb
6:100988266 ASCC3 GA>G	6	100988266	100988279	GA	G	ASCC3	c.5551-4del	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.100988279del	(Likely) benign	1 lab	52ada471d1
17:29667581 NF1 AG>A	17	29667581	29667583	AG	A	NF1	c.6982del	NM_001042492.3	NP_001035957.1:p.(Val2328SerfsTer18)	NC_000017.10:g.29667583del	(Likely) pathogenic	1 lab	52b11c38b7
10:85972925 CDHR1 G>C	10	85972925	85972925	G	C	CDHR1	c.1861G>C	NM_033100.4	NP_149091.1:p.(Asp621His)	NC_000010.10:g.85972925G>C	VUS	1 lab	52b2461522
8:95411702 RAD54B C>A	8	95411702	95411702	C	A	RAD54B	c.766G>T	NM_001205263.1	NP_001192192.1:p.(Ala256Ser)	NC_000008.10:g.95411702C>A	(Likely) benign	1 lab	52b265d936
5:112175399 APC A>T	5	112175399	112175399	A	T	APC				NC_000005.9:g.112175399A>T	(Likely) pathogenic	1 lab	52b367d497
9:133355833 ASS1 C>T	9	133355833	133355833	C	T	ASS1	c.835C>T	NM_000050.4	NP_000041.2:p.(Arg279Ter)	NC_000009.11:g.133355833C>T	(Likely) pathogenic	1 lab	f0d5da0a80
20:62327582 RTEL1 G>A	20	62327582	62327582	G	A	RTEL1	c.*371G>A	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62327582G>A	(Likely) benign	1 lab	52b5d73ede
1:236201529 NID1 C>T	1	236201529	236201529	C	T	NID1	c.1160G>A	NM_002508.2	NP_002499.2:p.(Arg387His)	NC_000001.10:g.236201529C>T	(Likely) benign	1 lab	52b71cb743
6:118556699 SLC35F1 G>A	6	118556699	118556699	G	A	SLC35F1	c.377G>A	NM_001029858.4	NP_001025029.2:p.(Arg126Gln)	NC_000006.11:g.118556699G>A	VUS	1 lab	52b71f1b38
6:7246648 RREB1 G>A	6	7246648	7246648	G	A	RREB1	c.3974-9G>A	NM_001003699.4	NP_001003699.1:p.?	NC_000006.11:g.7246648G>A	(Likely) benign	1 lab	52b7684db0
7:21939747 DNAH11 C>A	7	21939747	21939747	C	A	DNAH11				NC_000007.13:g.21939747C>A	(Likely) benign	1 lab	52b9fd709d
13:107145681 EFNB2 T>C	13	107145681	107145681	T	C	EFNB2	c.709A>G	NM_004093.3	NP_004084.1:p.(Ile237Val)	NC_000013.10:g.107145681T>C	VUS	1 lab	52ba3967d7
19:44015618 ETHE1 C>T	19	44015618	44015618	C	T	ETHE1	c.476G>A	NM_014297.4	NP_055112.2:p.(Arg159His)	NC_000019.9:g.44015618C>T	VUS	1 lab	52bac26498
6:146351061 GRM1 G>A	6	146351061	146351061	G	A	GRM1	c.408G>A	NM_001278065.1	NP_001264994.1:p.(Gly136=)	NC_000006.11:g.146351061G>A	(Likely) benign	1 lab	52bc3ed325
7:82785509 PCLO A>T	7	82785509	82785509	A	T	PCLO	c.448T>A	NM_033026.5	NP_149015.2:p.(Ser150Thr)	NC_000007.13:g.82785509A>T	(Likely) benign	1 lab	52bca37409
14:74527350 ALDH6A1 G>A	14	74527350	74527350	G	A	ALDH6A1	c.1141C>T	NM_001278594.1	NP_001265523.1:p.(Arg381Cys)	NC_000014.8:g.74527350G>A	(Likely) benign	1 lab	52bd2cbea0
18:77474557 CTDP1 C>T	18	77474557	77474557	C	T	CTDP1	c.1097C>T	NM_004715.4	NP_004706.3:p.(Thr366Met)	NC_000018.9:g.77474557C>T	(Likely) benign	1 lab	52be4c1f26
12:124915343 NCOR2 C>T	12	124915343	124915343	C	T	NCOR2	c.883-10G>A	NM_006312.5	NP_006303.4:p.?	NC_000012.11:g.124915343C>T	(Likely) benign	1 lab	52be9708a1
11:77825396 ALG8 G>A	11	77825396	77825396	G	A	ALG8	c.589C>T	NM_001007027.2	NP_001007028.1:p.(His197Tyr)	NC_000011.9:g.77825396G>A	VUS	1 lab	52beb9941a
17:29664545 NF1 CTT>C	17	29664545	29664549	CTT	C	NF1	c.6590_6591del	NM_001042492.3	NP_001035957.1:p.(Phe2197CysfsTer44)	NC_000017.10:g.29664548_29664549del	(Likely) pathogenic	1 lab	52bec7420e
10:104386943 SUFU C>T	10	104386943	104386943	C	T	SUFU	c.1308C>T	NM_016169.3	NP_057253.2:p.(Thr436=)	NC_000010.10:g.104386943C>T	(Likely) benign	1 lab	52bf1b5f8e
1:22987385 C1QB G>A	1	22987385	22987385	G	A	C1QB	c.268G>A	NM_000491.5	NP_000482.3:p.(Gly90Ser)	NC_000001.10:g.22987385G>A	(Likely) pathogenic	1 lab	f0dd4ae885
1:226109586 PYCR2 G>A	1	226109586	226109586	G	A	PYCR2	c.512C>T	NM_013328.3	NP_037460.2:p.(Thr171Met)	NC_000001.10:g.226109586G>A	VUS	1 lab	52c145f088
1:165218831 LMX1A T>G	1	165218831	165218831	T	G	LMX1A	c.310A>C	NM_177398.4	NP_796372.1:p.(Asn104His)	NC_000001.10:g.165218831T>G	VUS	1 lab	52c14a3086
1:196759249 CFHR3 G>A	1	196759249	196759249	G	A	CFHR3	c.688G>A	NM_021023.5	NP_066303.2:p.(Val230Met)	NC_000001.10:g.196759249G>A	(Likely) benign	1 lab	52c21d96ea
15:51780232 DMXL2 A>C	15	51780232	51780232	A	C	DMXL2	c.5136T>G	NM_001174116.1	NP_001167587.1:p.(Ala1712=)	NC_000015.9:g.51780232A>C	(Likely) benign	1 lab	52c27d62d5
6:34392537 RPS10 C>T	6	34392537	34392537	C	T	RPS10	c.231G>A	NM_001203245.2	NP_001190174.1:p.(Gln77=)	NC_000006.11:g.34392537C>T	(Likely) benign	1 lab	52c4759b67
22:37273752 NCF4 G>A	22	37273752	37273752	G	A	NCF4	c.907G>A	NM_000631.5	NP_000622.2:p.(Val303Ile)	NC_000022.10:g.37273752G>A	VUS	1 lab	52c80ea5bf
3:58416496 PDHB T>G	3	58416496	58416496	T	G	PDHB	c.477A>C	NM_000925.3	NP_000916.2:p.(Ser159=)	NC_000003.11:g.58416496T>G	(Likely) benign	1 lab	52c888940e
X:3533926 PRKX G>A	X	3533926	3533926	G	A	PRKX	c.881C>T	NM_005044.4	NP_005035.1:p.(Ala294Val)	NC_000023.10:g.3533926G>A	VUS	1 lab	52c9207d09
4:2097647 POLN C>T	4	2097647	2097647	C	T	POLN	c.1996G>A	NM_181808.3	NP_861524.2:p.(Val666Met)	NC_000004.11:g.2097647C>T	(Likely) benign	1 lab	52cb1d4a7f
11:31815041 PAX6 T>C	11	31815041	31815041	T	C	PAX6	c.1019A>G	NM_001604.5	NP_001595.2:p.(Tyr340Cys)	NC_000011.9:g.31815041T>C	VUS	1 lab	52cb8cd5c2
5:35763641 SPEF2 G>C	5	35763641	35763641	G	C	SPEF2	c.3638G>C	NM_024867.4	NP_079143.3:p.(Arg1213Pro)	NC_000005.9:g.35763641G>C	VUS	1 lab	52cc31777d
X:53672318 HUWE1 C>T	X	53672318	53672318	C	T	HUWE1	c.449G>A	NM_031407.6	NP_113584.3:p.(Arg150His)	NC_000023.10:g.53672318C>T	VUS	1 lab	52cd109fda
X:71822046 PHKA1 G>A	X	71822046	71822046	G	A	PHKA1	c.2995C>T	NM_002637.3	NP_002628.2:p.(Arg999Ter)	NC_000023.10:g.71822046G>A	(Likely) pathogenic	1 lab	52cdfdec98
X:100652825 GLA A>G	X	100652825	100652825	A	G	GLA	c.1262T>C	NM_000169.2	NP_000160.1:p.(Met421Thr)	NC_000023.10:g.100652825A>G	VUS	1 lab	52ce44c24f
1:228460989 OBSCN T>C	1	228460989	228460989	T	C	OBSCN	c.6003T>C	NM_001271223.2	NP_001258152.2:p.(Phe2001=)	NC_000001.10:g.228460989T>C	(Likely) benign	1 lab	52ce735ca0
19:54696013 TSEN34 G>T	19	54696013	54696013	G	T	TSEN34	c.534G>T	NM_001282332.1	NP_001269261.1:p.(Leu178Phe)	NC_000019.9:g.54696013G>T	(Likely) benign	1 lab	52ceaa131c
19:33467502 FAAP24 A>G	19	33467502	33467502	A	G	FAAP24	c.562A>G	NM_152266.4	NP_689479.1:p.(Ser188Gly)	NC_000019.9:g.33467502A>G	(Likely) benign	1 lab	52cf2a15cf
6:138200368 TNFAIP3 C>T	6	138200368	138200368	C	T	TNFAIP3	c.1786C>T	NM_006290.4	NP_006281.1:p.(Arg596Trp)	NC_000006.11:g.138200368C>T	(Likely) benign	1 lab	f0e0824aed
16:30733988 SRCAP C>T	16	30733988	30733988	C	T	SRCAP	c.3811C>T	NM_006662.3	NP_006653.2:p.(Pro1271Ser)	NC_000016.9:g.30733988C>T	VUS	1 lab	f0e135f5bf
5:150925264 FAT2 C>T	5	150925264	150925264	C	T	FAT2	c.5424G>A	NM_001447.2	NP_001438.1:p.(Glu1808=)	NC_000005.9:g.150925264C>T	(Likely) benign	1 lab	52d7189b3e
12:65857030 MSRB3 G>A	12	65857030	65857030	G	A	MSRB3	c.486G>A	NM_001193460.1	NP_001180389.1:p.(Ala162=)	NC_000012.11:g.65857030G>A	(Likely) benign	1 lab	52d827c69d
19:1615798 TCF3 C>T	19	1615798	1615798	C	T	TCF3	c.1473G>A	NM_003200.5	NP_003191.1:p.(Thr491=)	NC_000019.9:g.1615798C>T	(Likely) benign	1 lab	52d829348e
19:643528 FGF22 G>T	19	643528	643528	G	T	FGF22	c.437G>T	NM_020637.1	NP_065688.1:p.(Arg146Met)	NC_000019.9:g.643528G>T	(Likely) benign	1 lab	52d8a7b5b0
17:8788014 PIK3R5 C>T	17	8788014	8788014	C	T	PIK3R5	c.2205+10G>A	NM_014308.3	NP_055123.2:p.?	NC_000017.10:g.8788014C>T	(Likely) benign	1 lab	5480b7b402
9:138678182 KCNT1 G>A	9	138678182	138678182	G	A	KCNT1	c.3317G>A	NM_020822.2	NP_065873.2:p.(Arg1106Gln)	NC_000009.11:g.138678182G>A	VUS	1 lab	52d8c49541
10:13699301 FRMD4A T>G	10	13699301	13699301	T	G	FRMD4A	c.2288A>C	NM_018027.4	NP_060497.3:p.(Gln763Pro)	NC_000010.10:g.13699301T>G	(Likely) benign	1 lab	52d8c4deb0
11:32450036 WT1 C>A	11	32450036	32450036	C	A	WT1				NC_000011.9:g.32450036C>A	(Likely) benign	1 lab	5f4f98c242
1:152280489 FLG A>C	1	152280489	152280489	A	C	FLG	c.6873T>G	NM_002016.1	NP_002007.1:p.(Gly2291=)	NC_000001.10:g.152280489A>C	(Likely) benign	1 lab	52d960a434
13:32911286 BRCA2 GAC>G	13	32911286	32911291	GAC	G	BRCA2	c.2798_2799del	NM_000059.4	NP_000050.3:p.(Thr933ArgfsTer2)	NC_000013.10:g.32911290_32911291del	(Likely) pathogenic	1 lab	52db857b35
2:240048360 HDAC4 G>A	2	240048360	240048360	G	A	HDAC4	c.1310C>T	NM_006037.3	NP_006028.2:p.(Pro437Leu)	NC_000002.11:g.240048360G>A	(Likely) benign	1 lab	52dc719936
12:124192207 TCTN2 T>C	12	124192207	124192207	T	C	TCTN2	c.2041T>C	NM_024809.4	NP_079085.2:p.(Leu681=)	NC_000012.11:g.124192207T>C	(Likely) benign	1 lab	52de161732
11:119213688 MFRP G>C	11	119213688	119213688	G	C	MFRP	c.1150C>G	NM_031433.3	NP_113621.1:p.(His384Asp)	NC_000011.9:g.119213688G>C	VUS	1 lab	52de2c0193
16:15771722 NDE1 C>T	16	15771722	15771722	C	T	NDE1	c.302C>T	NM_001143979.1	NP_001137451.1:p.(Ala101Val)	NC_000016.9:g.15771722C>T	VUS	1 lab	52de6c12eb
X:100537330 TAF7L C>A	X	100537330	100537330	C	A	TAF7L	c.649G>T	NM_024885.3	NP_079161.3:p.(Val217Phe)	NC_000023.10:g.100537330C>A	(Likely) benign	1 lab	52de9d6d42
2:170131599 LRP2 GC>G	2	170131599	170131601	GC	G	LRP2	c.1921del	NM_004525.3	NP_004516.2:p.(Ala641LeufsTer3)	NC_000002.11:g.170131601del	(Likely) pathogenic	1 lab	52dfbd78e9
9:135798861 TSC1 C>A	9	135798861	135798861	C	A	TSC1	c.382G>T	NM_000368.4	NP_000359.1:p.(Val128Phe)	NC_000009.11:g.135798861C>A	VUS	1 lab	52e0091630
16:57695762 ADGRG1 G>A	16	57695762	57695762	G	A	ADGRG1	c.1836G>A	NM_005682.6	NP_005673.3:p.(Leu612=)	NC_000016.9:g.57695762G>A	(Likely) benign	1 lab	52e0920057
16:2108747 TSC2 G>C	16	2108747	2108747	G	C	TSC2	c.849-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2108747G>C	(Likely) pathogenic	1 lab	606e718859
9:135778053 TSC1 CT>C	9	135778053	135778054	CT	C	TSC1	c.2329del	NM_000368.5	NP_000359.1:p.(Ser777AlafsTer30)	NC_000009.11:g.135778054del	(Likely) pathogenic	1 lab	52e2ec5c0b
15:43693987 TUBGCP4 G>A	15	43693987	43693987	G	A	TUBGCP4	c.1673G>A	NM_001286414.2	NP_001273343.1:p.(Arg558Gln)	NC_000015.9:g.43693987G>A	VUS	1 lab	52e3562ef0
19:30196309 C19orf12 CAAA>C	19	30196309	30196331	CAAA	C	C19orf12	c.161-2428_161-2426del	NM_031448.6	NP_113636.2:p.?	NC_000019.9:g.30196329_30196331del	(Likely) benign	1 lab	52e54c3a67
17:29556482 NF1 A>ATT	17	29556482	29556483	A	ATT	NF1	c.2849_2850insTT	NM_000267.3	NP_000258.1:p.(Gln950HisfsTer5)	NC_000017.10:g.29556482_29556483insTT	(Likely) pathogenic	1 lab	52e68db047
2:166894364 SCN1A C>T	2	166894364	166894364	C	T	SCN1A	c.2868G>A	NM_001165963.4	NP_001159435.1:p.(Met956Ile)	NC_000002.11:g.166894364C>T	(Likely) pathogenic	1 lab	f0e4134d93
1:185959508 HMCN1 A>G	1	185959508	185959508	A	G	HMCN1	c.3310A>G	NM_031935.2	NP_114141.2:p.(Lys1104Glu)	NC_000001.10:g.185959508A>G	VUS	1 lab	52e8a36153
10:88459055 LDB3 G>A	10	88459055	88459055	G	A	LDB3	c.1121G>A	NM_001171611.1	NP_001165082.1:p.(Arg374His)	NC_000010.10:g.88459055G>A	(Likely) benign	1 lab	52e9381237
1:181727947 MISSING C>T	1	181727947	181727947	C	T	MISSING				NC_000001.10:g.181727947C>T	(Likely) benign	1 lab	52ea1a673a
11:607183 PHRF1 A>G	11	607183	607183	A	G	PHRF1	c.1727A>G	NM_001286581.2	NP_001273510.1:p.(Asn576Ser)	NC_000011.9:g.607183A>G	(Likely) benign	1 lab	52ea4f1525
5:70837278 BDP1 C>T	5	70837278	70837278	C	T	BDP1	c.6023-3C>T	NM_018429.2	NP_060899.2:p.?	NC_000005.9:g.70837278C>T	(Likely) benign	1 lab	52eaca4fe4
X:5821351 NLGN4X G>A	X	5821351	5821351	G	A	NLGN4X	c.1368C>T	NM_001282145.1	NP_001269074.1:p.(Thr456=)	NC_000023.10:g.5821351G>A	(Likely) benign	1 lab	52eb200d71
6:57398207 PRIM2 G>T	6	57398207	57398207	G	T	PRIM2	c.910G>T	NM_000947.5	NP_000938.2:p.(Gly304Ter)	NC_000006.11:g.57398207G>T	(Likely) benign	1 lab	52ef4bfc31
X:128691316 OCRL C>T	X	128691316	128691316	C	T	OCRL	c.256C>T	NM_001318784.1	NP_001305713.1:p.(Arg86Trp)	NC_000023.10:g.128691316C>T	VUS	1 lab	52ef924abe
11:76901163 MYO7A G>A	11	76901163	76901163	G	A	MYO7A	c.3729G>A	NM_000260.3	NP_000251.3:p.(Pro1243=)	NC_000011.9:g.76901163G>A	(Likely) benign	1 lab	52f1e4da6c
6:152711590 SYNE1 G>A	6	152711590	152711590	G	A	SYNE1	c.8005-3C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152711590G>A	(Likely) benign	1 lab	52f41607d5
17:29663903 NF1 T>C	17	29663903	29663903	T	C	NF1	c.6335T>C	NM_000267.3	NP_000258.1:p.(Leu2112Pro)	NC_000017.10:g.29663903T>C	(Likely) pathogenic	1 lab	52f474168d
21:46931111 COL18A1 C>T	21	46931111	46931111	C	T	COL18A1	c.5016C>T	NM_130444.3	NP_569711.2:p.(Asp1672=)	NC_000021.8:g.46931111C>T	(Likely) benign	1 lab	52f5172da7
11:725831 EPS8L2 G>GC	11	725831	725832	G	GC	EPS8L2	c.1665dup	NM_022772.3	NP_073609.2:p.(Ala556ArgfsTer215)	NC_000011.9:g.725832dup	(Likely) pathogenic	1 lab	52f51ab7c2
2:200262867 SATB2 A>G	2	200262867	200262867	A	G	SATB2	c.347-16324T>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200262867A>G	(Likely) benign	1 lab	52f5749230
14:105243046 AKT1 C>T	14	105243046	105243046	C	T	AKT1	c.237G>A	NM_005163.2	NP_005154.2:p.(Gln79=)	NC_000014.8:g.105243046C>T	(Likely) benign	1 lab	52f6c4c5dc
17:78341562 RNF213 C>T	17	78341562	78341562	C	T	RNF213	c.11886C>T	NM_001256071.2	NP_001243000.2:p.(Asn3962=)	NC_000017.10:g.78341562C>T	(Likely) benign	1 lab	52f7ac418c
10:103825553 HPS6 G>T	10	103825553	103825553	G	T	HPS6	c.322G>T	NM_024747.5	NP_079023.2:p.(Val108Leu)	NC_000010.10:g.103825553G>T	(Likely) benign	1 lab	52f7dcfa85
3:50255429 SLC38A3 G>T	3	50255429	50255429	G	T	SLC38A3	c.935+1G>T	NM_006841.6	NP_006832.1:p.?	NC_000003.11:g.50255429G>T	VUS	1 lab	52f814e4a5
X:114426769 RBMXL3 A>G	X	114426769	114426769	A	G	RBMXL3	c.2765A>G	NM_001145346.1	NP_001138818.1:p.(Asn922Ser)	NC_000023.10:g.114426769A>G	(Likely) benign	1 lab	52f87b1ae0
13:32890671 BRCA2 A>G	13	32890671	32890671	A	G	BRCA2	c.67+7A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890671A>G	(Likely) benign	1 lab	52f8a9aca4
12:58128378 AGAP2 C>G	12	58128378	58128378	C	G	AGAP2	c.1312G>C	NM_001122772.2	NP_001116244.1:p.(Glu438Gln)	NC_000012.11:g.58128378C>G	VUS	1 lab	52f983a619
12:105534714 WASHC4 G>A	12	105534714	105534714	G	A	WASHC4	c.1601G>A	NM_001293640.1	NP_001280569.1:p.(Arg534His)	NC_000012.11:g.105534714G>A	VUS	1 lab	52f9df683f
10:55626564 PCDH15 T>C	10	55626564	55626564	T	C	PCDH15				NC_000010.10:g.55626564T>C	VUS	1 lab	52fad86378
X:53969822 PHF8 T>C	X	53969822	53969822	T	C	PHF8	c.2612A>G	NM_001184898.1	NP_001171827.1:p.(Lys871Arg)	NC_000023.10:g.53969822T>C	(Likely) benign	1 lab	52fafc6382
2:228228476 TM4SF20 C>A	2	228228476	228228476	C	A	TM4SF20	c.654G>T	NM_024795.4	NP_079071.2:p.(Leu218=)	NC_000002.11:g.228228476C>A	(Likely) benign	1 lab	52fcb484c5
X:47426104 ARAF G>C	X	47426104	47426104	G	C	ARAF	c.633G>C	NM_001256196.1	NP_001243125.1:p.(Gln211His)	NC_000023.10:g.47426104G>C	VUS	1 lab	52fdd05212
7:45614442 ADCY1 C>T	7	45614442	45614442	C	T	ADCY1	c.300C>T	NM_021116.3	NP_066939.1:p.(Val100=)	NC_000007.13:g.45614442C>T	(Likely) benign	1 lab	52fe042637
4:71020117 PRR27 A>G	4	71020117	71020117	A	G	PRR27	c.25A>G	NM_214711.3	NP_999876.2:p.(Ile9Val)	NC_000004.11:g.71020117A>G	VUS	1 lab	52fe12eee1
16:74760146 FA2H C>T	16	74760146	74760146	C	T	FA2H	c.590G>A	NM_024306.4	NP_077282.3:p.(Arg197Gln)	NC_000016.9:g.74760146C>T	VUS	1 lab	52fe1b51f0
14:24711511 TINF2 C>A	14	24711511	24711511	C	A	TINF2	c.28G>T	NM_012461.2	NP_036593.2:p.(Ala10Ser)	NC_000014.8:g.24711511C>A	VUS	1 lab	52fef3b97f
X:153128277 L1CAM G>A	X	153128277	153128277	G	A	L1CAM	c.3615C>T	NM_001278116.1	NP_001265045.1:p.(Asp1205=)	NC_000023.10:g.153128277G>A	(Likely) benign	1 lab	52ff6a274b
4:152577504 FHIP1A G>A	4	152577504	152577504	G	A	FHIP1A	c.2672G>A	NM_001109977.3	NP_001103447.1:p.(Arg891His)	NC_000004.11:g.152577504G>A	VUS	1 lab	53003bffbe
2:179459054 TTN T>C	2	179459054	179459054	T	C	TTN	c.58150+17A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179459054T>C	VUS	1 lab	5301aa2545
1:117142632 IGSF3 A>T	1	117142632	117142632	A	T	IGSF3	c.2020T>A	NM_001542.4	NP_001533.2:p.(Tyr674Asn)	NC_000001.10:g.117142632A>T	VUS	1 lab	f0e5b3c2e2
17:29528448 NF1 C>G	17	29528448	29528448	C	G	NF1	c.1205C>G	NM_000267.3	NP_000258.1:p.(Ser402Ter)	NC_000017.10:g.29528448C>G	(Likely) pathogenic	1 lab	5302b37c20
14:57271037 OTX2 G>T	14	57271037	57271037	G	T	OTX2	c.118C>A	NM_001270524.1	NP_001257453.1:p.(Arg40=)	NC_000014.8:g.57271037G>T	(Likely) benign	1 lab	5302d90ddb
19:3770838 RAX2 C>CG	19	3770838	3770844	C	CG	RAX2	c.473dup	NM_001319074.1	NP_001306003.1:p.(Ala159GlyfsTer178)	NC_000019.9:g.3770844dup	(Likely) pathogenic	1 lab	5303667531
5:90049470 ADGRV1 T>C	5	90049470	90049470	T	C	ADGRV1	c.11201T>C	NM_032119.4	NP_115495.3:p.(Val3734Ala)	NC_000005.9:g.90049470T>C	(Likely) benign	1 lab	530367f475
3:137880885 DBR1 C>G	3	137880885	137880885	C	G	DBR1	c.1481G>C	NM_016216.3	NP_057300.2:p.(Gly494Ala)	NC_000003.11:g.137880885C>G	(Likely) benign	1 lab	53039981b8
5:140054276 HARS1 C>T	5	140054276	140054276	C	T	HARS1	c.1386G>A	NM_001258041.2	NP_001244970.1:p.(Thr462=)	NC_000005.9:g.140054276C>T	(Likely) benign	1 lab	5306046e6e
7:91851215 KRIT1 C>T	7	91851215	91851215	C	T	KRIT1	c.1563+1G>A	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91851215C>T	(Likely) pathogenic	1 lab	53061f1370
11:96124385 JRKL C>A	11	96124385	96124385	C	A	JRKL	c.572C>A	NM_003772.3	NP_003763.2:p.(Ser191Ter)	NC_000011.9:g.96124385C>A	VUS	1 lab	530676c231
X:149761103 MTM1 T>C	X	149761103	149761103	T	C	MTM1	c.27T>C	NM_000252.2	NP_000243.1:p.(Tyr9=)	NC_000023.10:g.149761103T>C	(Likely) benign	1 lab	5306da9df6
16:14576651 PARN C>T	16	14576651	14576651	C	T	PARN	c.1514G>A	NM_002582.4	NP_002573.1:p.(Arg505Gln)	NC_000016.9:g.14576651C>T	VUS	1 lab	f0e73c6570
6:46823797 ADGRF5 T>TA	6	46823797	46823798	T	TA	ADGRF5	c.3877-3dup	NM_001098518.2	NP_001091988.1:p.?	NC_000006.11:g.46823798dup	(Likely) benign	1 lab	530929a381
4:123239353 BLTP1 A>G	4	123239353	123239353	A	G	BLTP1	c.10722A>G	NM_015312.3	NP_056127.2:p.(Gln3574=)	NC_000004.11:g.123239353A>G	(Likely) benign	1 lab	5309878716
12:46244173 ARID2 T>C	12	46244173	46244173	T	C	ARID2	c.2267T>C	NM_152641.3	NP_689854.2:p.(Val756Ala)	NC_000012.11:g.46244173T>C	VUS	1 lab	5309f762a5
10:124797366 ACADSB A>G	10	124797366	124797366	A	G	ACADSB	c.303+3A>G	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124797366A>G	(Likely) pathogenic	1 lab	530ce29a7e
16:23646968 PALB2 G>A	16	23646968	23646968	G	A	PALB2	c.899C>T	NM_024675.3	NP_078951.2:p.(Thr300Ile)	NC_000016.9:g.23646968G>A	(Likely) benign	1 lab	530f1f6297
X:99657709 PCDH19 G>A	X	99657709	99657709	G	A	PCDH19	c.2429C>T	NM_001184880.1	NP_001171809.1:p.(Ser810Phe)	NC_000023.10:g.99657709G>A	VUS	1 lab	531037d368
16:28943749 CD19 G>A	16	28943749	28943749	G	A	CD19	c.171G>A	NM_001178098.1	NP_001171569.1:p.(Pro57=)	NC_000016.9:g.28943749G>A	(Likely) benign	1 lab	5311c384aa
6:133777740 EYA4 C>G	6	133777740	133777740	C	G	EYA4	c.324C>G	NM_004100.5	NP_004091.3:p.(Thr108=)	NC_000006.11:g.133777740C>G	(Likely) benign	1 lab	f0ea392484
16:21712289 OTOA G>A	16	21712289	21712289	G	A	OTOA	c.921G>A	NM_144672.4	NP_653273.3:p.(Ala307=)	NC_000016.9:g.21712289G>A	(Likely) benign	1 lab	5313a1b392
3:49059911 NDUFAF3 A>C	3	49059911	49059911	A	C	NDUFAF3	c.210A>C	NM_199069.1	NP_951032.1:p.(Ile70=)	NC_000003.11:g.49059911A>C	(Likely) benign	1 lab	5313a6a190
16:88494502 ZNF469 G>A	16	88494502	88494502	G	A	ZNF469				NC_000016.9:g.88494502G>A	(Likely) benign	1 lab	5313b1968f
2:74143863 ACTG2 G>A	2	74143863	74143863	G	A	ACTG2	c.958G>A	NM_001615.3	NP_001606.1:p.(Ala320Thr)	NC_000002.11:g.74143863G>A	VUS	1 lab	53156b1c27
9:71650714 FXN C>T	9	71650714	71650714	C	T	FXN	c.16C>T	NM_181425.2	NP_852090.1:p.(Arg6Cys)	NC_000009.11:g.71650714C>T	(Likely) benign	1 lab	5315fbdccd
1:152275878 FLG C>T	1	152275878	152275878	C	T	FLG	c.11484G>A	NM_002016.1	NP_002007.1:p.(Ser3828=)	NC_000001.10:g.152275878C>T	(Likely) benign	1 lab	5318900b7d
17:76457728 DNAH17 G>A	17	76457728	76457728	G	A	DNAH17	c.9237C>T	NM_173628.3	NP_775899.3:p.(Ser3079=)	NC_000017.10:g.76457728G>A	(Likely) benign	1 lab	5318af5453
X:13778540 OFD1 G>A	X	13778540	13778540	G	A	OFD1	c.1541G>A	NM_001330210.1	NP_001317139.1:p.(Arg514Gln)	NC_000023.10:g.13778540G>A	(Likely) benign	1 lab	5319695f9d
1:236201489 NID1 G>A	1	236201489	236201489	G	A	NID1	c.1200C>T	NM_002508.2	NP_002499.2:p.(His400=)	NC_000001.10:g.236201489G>A	(Likely) benign	1 lab	531a2a896a
4:84188934 COQ2 T>C	4	84188934	84188934	T	C	COQ2	c.913-7A>G	NM_015697.8	NP_056512.5:p.?	NC_000004.11:g.84188934T>C	(Likely) benign	1 lab	531a97b2a9
7:21646160 DNAH11 C>T	7	21646160	21646160	C	T	DNAH11				NC_000007.13:g.21646160C>T	(Likely) benign	1 lab	531af8d277
1:11294474 MTOR T>A	1	11294474	11294474	T	A	MTOR	c.2209-152A>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11294474T>A	(Likely) benign	1 lab	531c1785f3
9:135772964 TSC1 CT>C	9	135772964	135772967	CT	C	TSC1	c.2658del	NM_000368.5	NP_000359.1:p.(Glu887SerfsTer2)	NC_000009.11:g.135772967del	(Likely) pathogenic	1 lab	531cc1d593
4:184605217 TRAPPC11 G>A	4	184605217	184605217	G	A	TRAPPC11	c.1287+10G>A	NM_021942.5	NP_068761.4:p.?	NC_000004.11:g.184605217G>A	(Likely) benign	1 lab	531dfd5559
11:6579429 DNHD1 C>A	11	6579429	6579429	C	A	DNHD1	c.8904C>A	NM_144666.2	NP_653267.2:p.(Gly2968=)	NC_000011.9:g.6579429C>A	(Likely) benign	1 lab	531e21b93a
4:6303568 WFS1 C>A	4	6303568	6303568	C	A	WFS1	c.2046C>A	NM_006005.3	NP_005996.2:p.(Asn682Lys)	NC_000004.11:g.6303568C>A	(Likely) pathogenic	1 lab	531f7b1343
14:102449837 DYNC1H1 G>A	14	102449837	102449837	G	A	DYNC1H1	c.1352G>A	NM_001376.4	NP_001367.2:p.(Arg451His)	NC_000014.8:g.102449837G>A	VUS	1 lab	5320fa3213
7:107571819 LAMB1 T>C	7	107571819	107571819	T	C	LAMB1	c.4519A>G	NM_002291.2	NP_002282.2:p.(Ile1507Val)	NC_000007.13:g.107571819T>C	VUS	1 lab	532266c75d
22:29121325 CHEK2 C>T	22	29121325	29121325	C	T	CHEK2	c.350G>A	NM_007194.4	NP_009125.1:p.(Arg117Lys)	NC_000022.10:g.29121325C>T	VUS	1 lab	53226db724
19:5240276 PTPRS G>A	19	5240276	5240276	G	A	PTPRS	c.1638C>T	NM_002850.3	NP_002841.3:p.(Ser546=)	NC_000019.9:g.5240276G>A	(Likely) benign	1 lab	5322c6c03a
22:29091725 CHEK2 C>T	22	29091725	29091725	C	T	CHEK2	c.1232G>A	NM_007194.4	NP_009125.1:p.(Trp411Ter)	NC_000022.10:g.29091725C>T	(Likely) pathogenic	1 lab	f0ef6ec4c5
22:19707725 SEPTIN5 C>T	22	19707725	19707725	C	T	SEPTIN5	c.353C>T	NM_001009939.2	NP_001009939.1:p.(Thr118Met)	NC_000022.10:g.19707725C>T	VUS	1 lab	5326b56ebd
15:43164882 TTBK2 T>G	15	43164882	43164882	T	G	TTBK2	c.144A>C	NM_173500.3	NP_775771.3:p.(Ala48=)	NC_000015.9:g.43164882T>G	(Likely) benign	1 lab	53280ecc4e
X:107819133 COL4A5 A>G	X	107819133	107819133	A	G	COL4A5	c.547-7A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107819133A>G	(Likely) benign	1 lab	53290dc256
9:33116095 B4GALT1 A>C	9	33116095	33116095	A	C	B4GALT1	c.853T>G	NM_001497.3	NP_001488.2:p.(Tyr285Asp)	NC_000009.11:g.33116095A>C	VUS	1 lab	5329443f41
X:135067758 SLC9A6 G>T	X	135067758	135067758	G	T	SLC9A6	c.97G>T	NM_001042537.1	NP_001036002.1:p.(Ala33Ser)	NC_000023.10:g.135067758G>T	(Likely) benign	1 lab	532957e6b7
1:211652382 RD3 T>A	1	211652382	211652382	T	A	RD3	c.584A>T	NM_183059.2	NP_898882.1:p.(Asp195Val)	NC_000001.10:g.211652382T>A	(Likely) benign	1 lab	5329b4a6c5
21:45941937 TSPEAR G>A	21	45941937	45941937	G	A	TSPEAR	c.1191C>T	NM_001272037.1	NP_001258966.1:p.(Phe397=)	NC_000021.8:g.45941937G>A	(Likely) benign	1 lab	532a43f395
21:45950945 TSPEAR C>G	21	45950945	45950945	C	G	TSPEAR	c.410G>C	NM_001272037.1	NP_001258966.1:p.(Arg137Thr)	NC_000021.8:g.45950945C>G	VUS	1 lab	532b25d8e3
17:78064184 CCDC40 A>G	17	78064184	78064184	A	G	CCDC40	c.3079A>G	NM_001243342.1	NP_001230271.1:p.(Thr1027Ala)	NC_000017.10:g.78064184A>G	(Likely) benign	1 lab	532c05b6fe
X:68058559 EFNB1 C>G	X	68058559	68058559	C	G	EFNB1	c.228C>G	NM_004429.4	NP_004420.1:p.(Tyr76Ter)	NC_000023.10:g.68058559C>G	(Likely) pathogenic	1 lab	532c23d95a
9:117267049 WHRN G>C	9	117267049	117267049	G	C	WHRN	c.33C>G	NM_015404.3	NP_056219.3:p.(Ser11Arg)	NC_000009.11:g.117267049G>C	(Likely) benign	1 lab	532c27ca45
1:45294738 PTCH2 G>A	1	45294738	45294738	G	A	PTCH2	c.1380C>T	NM_001166292.1	NP_001159764.1:p.(Pro460=)	NC_000001.10:g.45294738G>A	(Likely) benign	1 lab	532c5f8785
5:169186750 DOCK2 A>G	5	169186750	169186750	A	G	DOCK2	c.2418A>G	NM_004946.3	NP_004937.1:p.(Val806=)	NC_000005.9:g.169186750A>G	(Likely) benign	1 lab	532d2a5259
2:179443759 TTN A>G	2	179443759	179443759	A	G	TTN	c.67998T>C	NM_001267550.1	NP_001254479.1:p.(Ala22666=)	NC_000002.11:g.179443759A>G	(Likely) benign	1 lab	532db1fd6e
1:181620575 MISSING C>A	1	181620575	181620575	C	A	MISSING				NC_000001.10:g.181620575C>A	(Likely) benign	1 lab	532e5311da
16:2129327 TSC2 T>C	16	2129327	2129327	T	C	TSC2	c.3182T>C	NM_000548.3	NP_000539.2:p.(Leu1061Pro)	NC_000016.9:g.2129327T>C	(Likely) pathogenic	1 lab	532f7066b7
21:36206842 RUNX1 G>A	21	36206842	36206842	G	A	RUNX1	c.589C>T	NM_001001890.2	NP_001001890.1:p.(Arg197Trp)	NC_000021.8:g.36206842G>A	VUS	1 lab	532ff08c11
7:128496623 FLNC G>A	7	128496623	128496623	G	A	FLNC	c.7303G>A	NM_001458.5	NP_001449.3:p.(Gly2435Ser)	NC_000007.13:g.128496623G>A	VUS	1 lab	f0efacaac7
17:1637200 WDR81 C>T	17	1637200	1637200	C	T	WDR81	c.4869C>T	NM_001163809.1	NP_001157281.1:p.(Tyr1623=)	NC_000017.10:g.1637200C>T	(Likely) benign	1 lab	5333f3f0d8
6:7567680 DSP C>A	6	7567680	7567680	C	A	DSP	c.1138C>A	NM_004415.4	NP_004406.2:p.(Gln380Lys)	NC_000006.11:g.7567680C>A	VUS	1 lab	f0f754c2a8
16:88909095 GALNS G>A	16	88909095	88909095	G	A	GALNS	c.244+19C>T	NM_000512.4	NP_000503.1:p.?	NC_000016.9:g.88909095G>A	(Likely) benign	1 lab	5335a53f9a
9:711219 KANK1 C>T	9	711219	711219	C	T	KANK1	c.453C>T	NM_001256877.2	NP_001243806.1:p.(Asn151=)	NC_000009.11:g.711219C>T	(Likely) benign	1 lab	5336290ca2
11:9494245 ZNF143 T>C	11	9494245	9494245	T	C	ZNF143	c.134T>C	NM_001282656.1	NP_001269585.1:p.(Met45Thr)	NC_000011.9:g.9494245T>C	VUS	1 lab	53364c058c
6:137147482 PEX7 G>A	6	137147482	137147482	G	A	PEX7	c.214G>A	NM_000288.3	NP_000279.1:p.(Asp72Asn)	NC_000006.11:g.137147482G>A	VUS	1 lab	5336c9a8d1
5:86564270 RASA1 T>C	5	86564270	86564270	T	C	RASA1	c.2T>C	NM_002890.2	NP_002881.1:p.(Met1?)	NC_000005.9:g.86564270T>C	VUS	1 lab	53382d2a5e
X:129149243 BCORL1 G>C	X	129149243	129149243	G	C	BCORL1	c.2495G>C	NM_001184772.2	NP_001171701.1:p.(Gly832Ala)	NC_000023.10:g.129149243G>C	VUS	1 lab	533948de12
6:42936207 PEX6 A>G	6	42936207	42936207	A	G	PEX6	c.1509T>C	NM_000287.3	NP_000278.3:p.(Ser503=)	NC_000006.11:g.42936207A>G	(Likely) benign	1 lab	533c636b70
18:19379813 MIB1 C>T	18	19379813	19379813	C	T	MIB1	c.1249C>T	NM_020774.3	NP_065825.1:p.(Gln417Ter)	NC_000018.9:g.19379813C>T	(Likely) pathogenic	1 lab	533c767333
21:38120214 SIM2 C>A	21	38120214	38120214	C	A	SIM2	c.1825C>A	NM_005069.5	NP_005060.1:p.(Arg609Ser)	NC_000021.8:g.38120214C>A	VUS	1 lab	533ce1f53b
16:84056457 SLC38A8 C>T	16	84056457	84056457	C	T	SLC38A8	c.728G>A	NM_001080442.2	NP_001073911.1:p.(Arg243His)	NC_000016.9:g.84056457C>T	(Likely) benign	1 lab	533d247c40
14:90756780 NRDE2 A>G	14	90756780	90756780	A	G	NRDE2	c.2014T>C	NM_017970.4	NP_060440.2:p.(Tyr672His)	NC_000014.8:g.90756780A>G	(Likely) benign	1 lab	5340761f7c
18:51025754 DCC A>AGAACCATCCCCACAGC	18	51025754	51025770	A	AGAACCATCCCCACAGC	DCC	c.3986_4001dup	NM_005215.4	NP_005206.2:p.(Cys1335AsnfsTer18)	NC_000018.9:g.51025755_51025770dup	(Likely) pathogenic	1 lab	f0f9021c64
14:23893254 MYH7 A>T	14	23893254	23893254	A	T	MYH7	c.2784T>A	NM_000257.2	NP_000248.2:p.(Asp928Glu)	NC_000014.8:g.23893254A>T	VUS	1 lab	534181c16a
9:126125376 CRB2 C>T	9	126125376	126125376	C	T	CRB2	c.327C>T	NM_173689.6	NP_775960.4:p.(Ile109=)	NC_000009.11:g.126125376C>T	(Likely) benign	1 lab	5342927210
14:23884907 MYH7 C>G	14	23884907	23884907	C	G	MYH7	c.5088G>C	NM_000257.2	NP_000248.2:p.(Glu1696Asp)	NC_000014.8:g.23884907C>G	(Likely) benign	1 lab	5345a97646
5:150925143 FAT2 C>T	5	150925143	150925143	C	T	FAT2	c.5545G>A	NM_001447.2	NP_001438.1:p.(Val1849Ile)	NC_000005.9:g.150925143C>T	(Likely) benign	1 lab	5345cf9ba1
1:243434296 SDCCAG8 T>A	1	243434296	243434296	T	A	SDCCAG8	c.237T>A	NM_006642.4	NP_006633.1:p.(Asp79Glu)	NC_000001.10:g.243434296T>A	(Likely) benign	1 lab	5346871a92
16:88802712 PIEZO1 C>T	16	88802712	88802712	C	T	PIEZO1	c.1401G>A	NM_001142864.4	NP_001136336.2:p.(Ser467=)	NC_000016.9:g.88802712C>T	(Likely) benign	1 lab	534701dc0d
17:29661948 NF1 C>T	17	29661948	29661948	C	T	NF1	c.5842C>T	NM_000267.3	NP_000258.1:p.(Gln1948Ter)	NC_000017.10:g.29661948C>T	(Likely) pathogenic	1 lab	5347bfda8e
7:103363597 RELN T>C	7	103363597	103363597	T	C	RELN	c.795A>G	NM_005045.3	NP_005036.2:p.(Gln265=)	NC_000007.13:g.103363597T>C	VUS	1 lab	53480c8508
15:41772843 RTF1 T>C	15	41772843	41772843	T	C	RTF1	c.2091T>C	NM_015138.4	NP_055953.3:p.(Ser697=)	NC_000015.9:g.41772843T>C	(Likely) benign	1 lab	53488c0066
X:49029553 PLP2 C>T	X	49029553	49029553	C	T	PLP2	c.174C>T	NM_002668.2	NP_002659.1:p.(Ile58=)	NC_000023.10:g.49029553C>T	(Likely) benign	1 lab	5348b087f5
12:7053061 ATN1 A>G	12	7053061	7053061	A	G	ATN1				NC_000012.11:g.7053061A>G	VUS	1 lab	f0f99fe83c
15:44884585 SPG11 T>C	15	44884585	44884585	T	C	SPG11	c.4687A>G	NM_025137.3	NP_079413.3:p.(Arg1563Gly)	NC_000015.9:g.44884585T>C	(Likely) benign	1 lab	53494f641c
X:47107238 USP11 G>A	X	47107238	47107238	G	A	USP11	c.2801G>A	NM_004651.3	NP_004642.2:p.(Arg934Gln)	NC_000023.10:g.47107238G>A	(Likely) benign	1 lab	5349d03bd8
X:48771463 PIM2 G>A	X	48771463	48771463	G	A	PIM2	c.881C>T	NM_006875.3	NP_006866.2:p.(Pro294Leu)	NC_000023.10:g.48771463G>A	(Likely) benign	1 lab	534a580606
17:56285347 MKS1 C>T	17	56285347	56285347	C	T	MKS1	c.1181G>A	NM_017777.3	NP_060247.2:p.(Trp394Ter)	NC_000017.10:g.56285347C>T	(Likely) pathogenic	1 lab	534cc685ad
3:142238570 ATR T>C	3	142238570	142238570	T	C	ATR	c.4323A>G	NM_001184.3	NP_001175.2:p.(Gln1441=)	NC_000003.11:g.142238570T>C	(Likely) benign	1 lab	534ccc4245
6:133846244 EYA4 C>T	6	133846244	133846244	C	T	EYA4	c.1830C>T	NM_172105.3	NP_742103.1:p.(Ala610=)	NC_000006.11:g.133846244C>T	(Likely) benign	1 lab	534ef727f7
1:151378722 POGZ G>C	1	151378722	151378722	G	C	POGZ	c.2789C>G	NM_015100.3	NP_055915.2:p.(Pro930Arg)	NC_000001.10:g.151378722G>C	(Likely) benign	1 lab	534f1e1c52
3:197411054 RUBCN G>T	3	197411054	197411054	G	T	RUBCN	c.1686C>A	NM_001145642.4	NP_001139114.1:p.(Ser562Arg)	NC_000003.11:g.197411054G>T	(Likely) benign	1 lab	53506127c0
16:50825506 CYLD C>A	16	50825506	50825506	C	A	CYLD	c.2146C>A	NM_015247.2	NP_056062.1:p.(Gln716Lys)	NC_000016.9:g.50825506C>A	VUS	1 lab	5354517a56
11:26663582 ANO3 GA>G	11	26663582	26663590	GA	G	ANO3	c.2275+14del	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26663590del	(Likely) benign	1 lab	5354863f15
11:110104139 RDX G>C	11	110104139	110104139	G	C	RDX	c.1410C>G	NM_002906.3	NP_002897.1:p.(Pro470=)	NC_000011.9:g.110104139G>C	(Likely) benign	1 lab	535556b64d
X:70147690 SLC7A3 C>T	X	70147690	70147690	C	T	SLC7A3	c.1001G>A	NM_032803.5	NP_116192.4:p.(Arg334His)	NC_000023.10:g.70147690C>T	(Likely) benign	1 lab	535663458c
6:137527430 IFNGR1 T>C	6	137527430	137527430	T	C	IFNGR1	c.216A>G	NM_000416.2	NP_000407.1:p.(Glu72=)	NC_000006.11:g.137527430T>C	(Likely) benign	1 lab	535844d9f5
1:63868015 ALG6 G>GT	1	63868015	63868016	G	GT	ALG6	c.257+2dup	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63868016dup	(Likely) pathogenic	1 lab	5358936b62
4:166999155 TLL1 C>T	4	166999155	166999155	C	T	TLL1	c.2415C>T	NM_012464.4	NP_036596.3:p.(Ser805=)	NC_000004.11:g.166999155C>T	(Likely) benign	1 lab	535902bf0f
5:13781061 DNAH5 C>T	5	13781061	13781061	C	T	DNAH5	c.8828G>A	NM_001369.2	NP_001360.1:p.(Arg2943His)	NC_000005.9:g.13781061C>T	VUS	1 lab	535b579da4
16:2107157 TSC2 AT>A	16	2107157	2107158	AT	A	TSC2	c.827del	NM_000548.5	NP_000539.2:p.(Met276SerfsTer17)	NC_000016.9:g.2107158del	(Likely) pathogenic	1 lab	535c65cbac
1:6038425 NPHP4 A>C	1	6038425	6038425	A	C	NPHP4	c.184T>G	NM_015102.4	NP_055917.1:p.(Phe62Val)	NC_000001.10:g.6038425A>C	VUS	1 lab	55c1d88cba
2:179396930 TTN C>T	2	179396930	179396930	C	T	TTN	c.104412G>A	NM_001267550.1	NP_001254479.1:p.(Arg34804=)	NC_000002.11:g.179396930C>T	(Likely) benign	1 lab	535cb0a7c4
X:64722160 ZC3H12B A>G	X	64722160	64722160	A	G	ZC3H12B	c.1582A>G	NM_001010888.3	NP_001010888.3:p.(Ile528Val)	NC_000023.10:g.64722160A>G	(Likely) benign	1 lab	5361995ca0
22:37330018 CSF2RB T>C	22	37330018	37330018	T	C	CSF2RB	c.1297T>C	NM_000395.2	NP_000386.1:p.(Ser433Pro)	NC_000022.10:g.37330018T>C	(Likely) benign	1 lab	536268eb60
X:128885793 XPNPEP2 C>A	X	128885793	128885793	C	A	XPNPEP2	c.812C>A	NM_003399.5	NP_003390.4:p.(Ser271Tyr)	NC_000023.10:g.128885793C>A	(Likely) benign	1 lab	5362790dda
17:36486051 GPR179 C>T	17	36486051	36486051	C	T	GPR179	c.3401G>A	NM_001004334.3	NP_001004334.3:p.(Arg1134Gln)	NC_000017.10:g.36486051C>T	VUS	1 lab	536394abd4
14:105415271 AHNAK2 C>G	14	105415271	105415271	C	G	AHNAK2	c.6517G>C	NM_138420.3	NP_612429.2:p.(Glu2173Gln)	NC_000014.8:g.105415271C>G	VUS	1 lab	5363f9782c
13:103510638 ERCC5 A>G	13	103510638	103510638	A	G	ERCC5	c.542A>G	NM_000123.3	NP_000114.2:p.(His181Arg)	NC_000013.10:g.103510638A>G	(Likely) benign	1 lab	53654214e4
2:152435934 NEB C>T	2	152435934	152435934	C	T	NEB	c.16622G>A	NM_001271208.1	NP_001258137.1:p.(Arg5541His)	NC_000002.11:g.152435934C>T	(Likely) benign	1 lab	5365a6770a
X:22132587 PHEX G>C	X	22132587	22132587	G	C	PHEX	c.1185G>C	NM_000444.5	NP_000435.3:p.(Gly395=)	NC_000023.10:g.22132587G>C	(Likely) benign	1 lab	5365e2d310
6:32029315 TNXB G>A	6	32029315	32029315	G	A	TNXB	c.7351C>T	NM_019105.6	NP_061978.6:p.(Arg2451Trp)	NC_000006.11:g.32029315G>A	VUS	1 lab	5366b28a22
6:137187772 PEX7 G>C	6	137187772	137187772	G	C	PEX7	c.534G>C	NM_000288.3	NP_000279.1:p.(Gln178His)	NC_000006.11:g.137187772G>C	(Likely) benign	1 lab	53674d9deb
5:179023579 RUFY1 C>T	5	179023579	179023579	C	T	RUFY1	c.1204C>T	NM_001040451.2	NP_001035541.1:p.(Arg402Trp)	NC_000005.9:g.179023579C>T	VUS	1 lab	5367e21cfe
2:165552014 COBLL1 A>C	2	165552014	165552014	A	C	COBLL1	c.2203T>G	NM_001278458.1	NP_001265387.1:p.(Cys735Gly)	NC_000002.11:g.165552014A>C	VUS	1 lab	53681756e9
17:78180849 CARD14 C>T	17	78180849	78180849	C	T	CARD14	c.2772C>T	NM_024110.4	NP_077015.2:p.(His924=)	NC_000017.10:g.78180849C>T	(Likely) benign	1 lab	536ad2f21a
7:94050338 COL1A2 C>T	7	94050338	94050338	C	T	COL1A2	c.2313C>T	NM_000089.3	NP_000080.2:p.(Pro771=)	NC_000007.13:g.94050338C>T	(Likely) benign	1 lab	536b1d9d7c
7:5567953 ACTB C>T	7	5567953	5567953	C	T	ACTB	c.761G>A	NM_001101.3	NP_001092.1:p.(Arg254Gln)	NC_000007.13:g.5567953C>T	VUS	1 lab	536f67a000
10:73579633 PSAP TG>T	10	73579633	73579634	TG	T	PSAP	c.1029del	NM_002778.4	NP_002769.1:p.(Asp343GlufsTer54)	NC_000010.10:g.73579634del	(Likely) pathogenic	1 lab	f0fcb2f388
17:78032753 CCDC40 C>T	17	78032753	78032753	C	T	CCDC40	c.1414C>T	NM_017950.4	NP_060420.2:p.(Arg472Trp)	NC_000017.10:g.78032753C>T	VUS	1 lab	f0fcd4a9da
12:48374347 COL2A1 G>A	12	48374347	48374347	G	A	COL2A1	c.2615C>T	NM_001844.4	NP_001835.3:p.(Pro872Leu)	NC_000012.11:g.48374347G>A	VUS	1 lab	5374864a94
2:131519875 AMER3 G>A	2	131519875	131519875	G	A	AMER3	c.230G>A	NM_152698.2	NP_689911.2:p.(Gly77Glu)	NC_000002.11:g.131519875G>A	(Likely) benign	1 lab	5375dabbb7
17:29684286 NF1 G>A	17	29684286	29684286	G	A	NF1	c.7807-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684286G>A	(Likely) pathogenic	1 lab	537762c2ff
1:87025949 CLCA4 A>G	1	87025949	87025949	A	G	CLCA4	c.356A>G	NM_012128.4	NP_036260.2:p.(Lys119Arg)	NC_000001.10:g.87025949A>G	(Likely) benign	1 lab	5377c1d9dd
8:145095498 SPATC1 A>G	8	145095498	145095498	A	G	SPATC1	c.796A>G	NM_198572.2	NP_940974.2:p.(Thr266Ala)	NC_000008.10:g.145095498A>G	(Likely) benign	1 lab	537a2812e1
7:99702947 AP4M1 G>A	7	99702947	99702947	G	A	AP4M1	c.812G>A	NM_004722.3	NP_004713.2:p.(Arg271His)	NC_000007.13:g.99702947G>A	(Likely) benign	1 lab	537a5113c0
17:76129534 TMC8 G>A	17	76129534	76129534	G	A	TMC8	c.579G>A	NM_152468.4	NP_689681.2:p.(Pro193=)	NC_000017.10:g.76129534G>A	(Likely) benign	1 lab	537c17b1be
X:44966718 KDM6A A>T	X	44966718	44966718	A	T	KDM6A	c.4098A>T	NM_001291415.1	NP_001278344.1:p.(Gly1366=)	NC_000023.10:g.44966718A>T	VUS	1 lab	537deaac7a
X:48549552 WAS G>A	X	48549552	48549552	G	A	WAS	c.1508G>A	NM_000377.2	NP_000368.1:p.(Ter503=)	NC_000023.10:g.48549552G>A	(Likely) benign	1 lab	537dfeaf28
13:52549130 ATP7B T>C	13	52549130	52549130	T	C	ATP7B	c.226A>G	NM_000053.3	NP_000044.2:p.(Ile76Val)	NC_000013.10:g.52549130T>C	(Likely) benign	1 lab	537f65dcd3
8:12957375 DLC1 T>C	8	12957375	12957375	T	C	DLC1	c.2471A>G	NM_182643.2	NP_872584.2:p.(Asn824Ser)	NC_000008.10:g.12957375T>C	(Likely) benign	1 lab	538118bc3b
22:23630353 BCR A>C	22	23630353	23630353	A	C	BCR	c.2596A>C	NM_004327.3	NP_004318.3:p.(Lys866Gln)	NC_000022.10:g.23630353A>C	VUS	1 lab	53820aa06b
7:48528940 ABCA13 C>T	7	48528940	48528940	C	T	ABCA13	c.13290C>T	NM_152701.4	NP_689914.3:p.(Tyr4430=)	NC_000007.13:g.48528940C>T	(Likely) benign	1 lab	53831e4da7
15:23890100 MAGEL2 G>C	15	23890100	23890100	G	C	MAGEL2	c.2790C>G	NM_019066.4	NP_061939.3:p.(Val930=)	NC_000015.9:g.23890100G>C	(Likely) benign	1 lab	53868ae135
8:48695059 PRKDC C>T	8	48695059	48695059	C	T	PRKDC	c.11276G>A	NM_006904.6	NP_008835.5:p.(Arg3759Gln)	NC_000008.10:g.48695059C>T	VUS	1 lab	5386caa70a
15:51291296 AP4E1 C>T	15	51291296	51291296	C	T	AP4E1	c.2707C>T	NM_001252127.1	NP_001239056.1:p.(Pro903Ser)	NC_000015.9:g.51291296C>T	(Likely) benign	1 lab	5387bd7311
14:50101307 DNAAF2 G>A	14	50101307	50101307	G	A	DNAAF2	c.561C>T	NM_018139.2	NP_060609.2:p.(Thr187=)	NC_000014.8:g.50101307G>A	(Likely) benign	1 lab	5388172234
1:984655 AGRN C>T	1	984655	984655	C	T	AGRN				NC_000001.10:g.984655C>T	(Likely) benign	1 lab	53893f6aa8
22:17586805 IL17RA G>A	22	17586805	17586805	G	A	IL17RA	c.1006G>A	NM_014339.6	NP_055154.3:p.(Val336Ile)	NC_000022.10:g.17586805G>A	VUS	1 lab	538ce897ee
16:2818253 SRRM2 C>T	16	2818253	2818253	C	T	SRRM2	c.7724C>T	NM_016333.4	NP_057417.3:p.(Ala2575Val)	NC_000016.9:g.2818253C>T	VUS	1 lab	f1036ec89c
X:48887946 TFE3 G>A	X	48887946	48887946	G	A	TFE3	c.1451C>T	NM_006521.5	NP_006512.2:p.(Ala484Val)	NC_000023.10:g.48887946G>A	(Likely) benign	1 lab	538f426417
2:211456549 CPS1 C>T	2	211456549	211456549	C	T	CPS1	c.948-6C>T	NM_001875.4	NP_001866.2:p.?	NC_000002.11:g.211456549C>T	(Likely) benign	1 lab	539002545d
17:1630053 WDR81 C>T	17	1630053	1630053	C	T	WDR81	c.1800C>T	NM_001163809.1	NP_001157281.1:p.(Pro600=)	NC_000017.10:g.1630053C>T	(Likely) benign	1 lab	53909a3d6a
10:64952835 JMJD1C G>C	10	64952835	64952835	G	C	JMJD1C	c.5939C>G	NM_032776.2	NP_116165.1:p.(Pro1980Arg)	NC_000010.10:g.64952835G>C	VUS	1 lab	53923b77ed
2:166183388 SCN2A A>G	2	166183388	166183388	A	G	SCN2A	c.2043A>G	NM_021007.2	NP_066287.2:p.(Arg681=)	NC_000002.11:g.166183388A>G	(Likely) benign	1 lab	5392652664
3:39187998 CSRNP1 C>T	3	39187998	39187998	C	T	CSRNP1	c.236G>A	NM_001320559.1	NP_001307488.1:p.(Arg79His)	NC_000003.11:g.39187998C>T	(Likely) benign	1 lab	53935b8ec8
16:56996962 CETP G>A	16	56996962	56996962	G	A	CETP	c.159G>A	NM_000078.2	NP_000069.2:p.(Gln53=)	NC_000016.9:g.56996962G>A	(Likely) benign	1 lab	53936008e3
1:216595292 USH2A A>G	1	216595292	216595292	A	G	USH2A	c.387T>C	NM_206933.2	NP_996816.2:p.(Phe129=)	NC_000001.10:g.216595292A>G	(Likely) benign	1 lab	5395ed5b3d
2:170027106 LRP2 C>T	2	170027106	170027106	C	T	LRP2	c.11335G>A	NM_004525.3	NP_004516.2:p.(Asp3779Asn)	NC_000002.11:g.170027106C>T	VUS	1 lab	5396ac95f6
17:72958362 HID1 G>C	17	72958362	72958362	G	C	HID1	c.578C>G	NM_030630.3	NP_085133.1:p.(Ser193Cys)	NC_000017.10:g.72958362G>C	VUS	1 lab	539ae5dd96
11:68183919 LRP5 A>G	11	68183919	68183919	A	G	LRP5	c.1208A>G	NM_001291902.1	NP_001278831.1:p.(Tyr403Cys)	NC_000011.9:g.68183919A>G	VUS	1 lab	539d19b0d8
1:113460676 SLC16A1 C>CAATA	1	113460676	113460725	C	CAATA	SLC16A1	c.362-14_362-11dup	NM_001166496.1	NP_001159968.1:p.?	NC_000001.10:g.113460722_113460725dup	(Likely) benign	1 lab	539d422471
12:56847384 MIP G>A	12	56847384	56847384	G	A	MIP	c.516C>T	NM_012064.4	NP_036196.1:p.(His172=)	NC_000012.11:g.56847384G>A	(Likely) benign	1 lab	539fb2a912
X:3242270 MXRA5 G>T	X	3242270	3242270	G	T	MXRA5	c.1456C>A	NM_015419.3	NP_056234.2:p.(Gln486Lys)	NC_000023.10:g.3242270G>T	(Likely) benign	1 lab	53a0fa44d7
X:16170516 GRPR T>C	X	16170516	16170516	T	C	GRPR	c.903T>C	NM_005314.2	NP_005305.1:p.(Phe301=)	NC_000023.10:g.16170516T>C	(Likely) benign	1 lab	53a2613036
2:125192246 CNTNAP5 G>A	2	125192246	125192246	G	A	CNTNAP5	c.715G>A	NM_001367498.1	NP_001354427.1:p.(Ala239Thr)	NC_000002.11:g.125192246G>A	(Likely) benign	1 lab	53a59407ef
21:38126586 HLCS G>A	21	38126586	38126586	G	A	HLCS	c.2142C>T	NM_001242784.2	NP_001229713.1:p.(Phe714=)	NC_000021.8:g.38126586G>A	(Likely) benign	1 lab	53a7b69e86
X:47486620 CFP G>C	X	47486620	47486620	G	C	CFP	c.686C>G	NM_002621.2	NP_002612.1:p.(Pro229Arg)	NC_000023.10:g.47486620G>C	(Likely) benign	1 lab	53a9e1aaf7
2:45620147 SRBD1 C>A	2	45620147	45620147	C	A	SRBD1	c.2635G>T	NM_018079.5	NP_060549.4:p.(Val879Leu)	NC_000002.11:g.45620147C>A	VUS	1 lab	53ac111df8
22:19055688 DGCR2 G>A	22	19055688	19055688	G	A	DGCR2	c.253C>T	NM_005137.3	NP_005128.1:p.(Arg85Trp)	NC_000022.10:g.19055688G>A	VUS	1 lab	f105a68982
9:139272339 SNAPC4 G>A	9	139272339	139272339	G	A	SNAPC4	c.3940C>T	NM_003086.3	NP_003077.2:p.(Leu1314=)	NC_000009.11:g.139272339G>A	(Likely) benign	1 lab	53afc23eb4
16:27460454 IL21R G>A	16	27460454	27460454	G	A	IL21R	c.1533G>A	NM_181079.4	NP_851565.4:p.(Thr511=)	NC_000016.9:g.27460454G>A	(Likely) benign	1 lab	53b16a0075
15:31318347 TRPM1 A>G	15	31318347	31318347	A	G	TRPM1	c.3675T>C	NM_001252020.1	NP_001238949.1:p.(Ser1225=)	NC_000015.9:g.31318347A>G	(Likely) benign	1 lab	53b184d9ae
18:44089720 LOXHD1 T>A	18	44089720	44089720	T	A	LOXHD1	c.5272A>T	NM_144612.6	NP_653213.6:p.(Thr1758Ser)	NC_000018.9:g.44089720T>A	VUS	1 lab	53b1bfcb67
18:42618610 SETBP1 G>A	18	42618610	42618610	G	A	SETBP1	c.4161G>A	NM_015559.3	NP_056374.2:p.(Thr1387=)	NC_000018.9:g.42618610G>A	(Likely) benign	1 lab	f1095b4da7
X:14915247 MOSPD2 A>G	X	14915247	14915247	A	G	MOSPD2	c.364A>G	NM_152581.3	NP_689794.1:p.(Ile122Val)	NC_000023.10:g.14915247A>G	(Likely) benign	1 lab	53b3034810
5:14391001 TRIO G>T	5	14391001	14391001	G	T	TRIO	c.4129-9G>T	NM_007118.3	NP_009049.2:p.?	NC_000005.9:g.14391001G>T	(Likely) benign	1 lab	53b55668a2
2:179436099 TTN G>GT	2	179436099	179436100	G	GT	TTN	c.74759_74760insA	NM_001267550.1	NP_001254479.1:p.(Ser24921LeufsTer11)	NC_000002.11:g.179436099_179436100insT	(Likely) pathogenic	1 lab	53b756c8d9
19:39052070 RYR1 C>T	19	39052070	39052070	C	T	RYR1	c.12600C>T	NM_000540.2	NP_000531.2:p.(Asn4200=)	NC_000019.9:g.39052070C>T	(Likely) benign	1 lab	53b844a0b1
5:145719368 POU4F3 G>A	5	145719368	145719368	G	A	POU4F3	c.378G>A	NM_002700.3	NP_002691.1:p.(Thr126=)	NC_000005.9:g.145719368G>A	(Likely) benign	1 lab	53b88ec0a6
1:100964774 CDC14A G>A	1	100964774	100964774	G	A	CDC14A	c.1711G>A	NM_001319210.1	NP_001306139.1:p.(Gly571Arg)	NC_000001.10:g.100964774G>A	VUS	1 lab	53bbd8ae9e
1:240371469 FMN2 C>T	1	240371469	240371469	C	T	FMN2	c.3357C>T	NM_020066.5	NP_064450.3:p.(Pro1119=)	NC_000001.10:g.240371469C>T	(Likely) benign	1 lab	53bd519032
6:76621396 MYO6 A>G	6	76621396	76621396	A	G	MYO6	c.3420A>G	NM_004999.3	NP_004990.3:p.(Ala1140=)	NC_000006.11:g.76621396A>G	(Likely) benign	1 lab	53bea4cd60
1:31349480 SDC3 G>GA	1	31349480	31349481	G	GA	SDC3	c.788_789insT	NM_014654.3	NP_055469.3:p.(Thr264HisfsTer6)	NC_000001.10:g.31349480_31349481insA	VUS	1 lab	53bf60a508
1:113616070 LRIG2 G>A	1	113616070	113616070	G	A	LRIG2	c.42G>A	NM_014813.2	NP_055628.1:p.(Leu14=)	NC_000001.10:g.113616070G>A	(Likely) benign	1 lab	53bfccf214
12:40697922 LRRK2 A>C	12	40697922	40697922	A	C	LRRK2	c.3763A>C	NM_198578.3	NP_940980.3:p.(Asn1255His)	NC_000012.11:g.40697922A>C	VUS	1 lab	53c208fe97
12:1017744 WNK1 C>G	12	1017744	1017744	C	G	WNK1	c.7715C>G	NM_001184985.1	NP_001171914.1:p.(Ser2572Cys)	NC_000012.11:g.1017744C>G	VUS	1 lab	53c3a291ac
2:234669127 UGT1A1 C>T	2	234669127	234669127	C	T	UGT1A1	c.194C>T	NM_000463.3	NP_000454.1:p.(Ser65Leu)	NC_000002.11:g.234669127C>T	VUS	1 lab	f10bcfd3e5
8:100513964 VPS13B C>A	8	100513964	100513964	C	A	VPS13B	c.3920C>A	NM_017890.4	NP_060360.3:p.(Thr1307Asn)	NC_000008.10:g.100513964C>A	VUS	1 lab	53c549cf9f
19:17132902 MISSING G>A	19	17132902	17132902	G	A	MISSING				NC_000019.9:g.17132902G>A	(Likely) benign	1 lab	53c62ae577
1:236924431 ACTN2 C>T	1	236924431	236924431	C	T	ACTN2	c.2484C>T	NM_001103.3	NP_001094.1:p.(Ala828=)	NC_000001.10:g.236924431C>T	(Likely) benign	1 lab	53c79be828
18:77733860 TXNL4A C>T	18	77733860	77733860	C	T	TXNL4A	c.258-4G>A	NM_006701.5	NP_006692.1:p.?	NC_000018.9:g.77733860C>T	(Likely) benign	1 lab	53c7cfbef1
7:151849862 KMT2C C>T	7	151849862	151849862	C	T	KMT2C	c.12454G>A	NM_170606.2	NP_733751.2:p.(Ala4152Thr)	NC_000007.13:g.151849862C>T	VUS	1 lab	53c82f0efc
18:45422966 SMAD2 T>C	18	45422966	45422966	T	C	SMAD2	c.162A>G	NM_001003652.3	NP_001003652.1:p.(Lys54=)	NC_000018.9:g.45422966T>C	(Likely) benign	1 lab	53c8ff581c
13:23905912 SACS T>C	13	23905912	23905912	T	C	SACS	c.12103A>G	NM_014363.5	NP_055178.3:p.(Ile4035Val)	NC_000013.10:g.23905912T>C	(Likely) benign	1 lab	53c9cc09a1
1:27056248 ARID1A A>G	1	27056248	27056248	A	G	ARID1A	c.1244A>G	NM_006015.4	NP_006006.3:p.(His415Arg)	NC_000001.10:g.27056248A>G	VUS	1 lab	53cb052253
3:38048514 VILL C>T	3	38048514	38048514	C	T	VILL	c.2539C>T	NM_015873.3	NP_056957.3:p.(Arg847Trp)	NC_000003.11:g.38048514C>T	VUS	1 lab	53cb1064f3
7:73477668 ELN AG>A	7	73477668	73477669	AG	A	ELN	c.1888del	NM_000501.4	NP_000492.2:p.(Ala630ProfsTer12)	NC_000007.13:g.73477669del	(Likely) pathogenic	1 lab	53cc5cb40a
22:51144513 MISSING C>G	22	51144513	51144513	C	G	MISSING				NC_000022.10:g.51144513C>G	(Likely) benign	1 lab	53cfe32bb1
X:43587431 MAOA G>A	X	43587431	43587431	G	A	MAOA	c.116G>A	NM_001270458.1	NP_001257387.1:p.(Arg39Gln)	NC_000023.10:g.43587431G>A	(Likely) benign	1 lab	53d072cdf8
14:76129528 TTLL5 A>G	14	76129528	76129528	A	G	TTLL5	c.36A>G	NM_015072.4	NP_055887.3:p.(Thr12=)	NC_000014.8:g.76129528A>G	(Likely) benign	1 lab	53d102727f
4:151749354 LRBA C>T	4	151749354	151749354	C	T	LRBA	c.5149G>A	NM_006726.4	NP_006717.2:p.(Val1717Met)	NC_000004.11:g.151749354C>T	VUS	1 lab	53d2001bc3
5:90136769 ADGRV1 A>G	5	90136769	90136769	A	G	ADGRV1	c.16986A>G	NM_032119.4	NP_115495.3:p.(Glu5662=)	NC_000005.9:g.90136769A>G	(Likely) benign	1 lab	53d4215329
12:80632742 OTOGL G>A	12	80632742	80632742	G	A	OTOGL	c.902G>A	NM_173591.3	NP_775862.3:p.(Gly301Glu)	NC_000012.11:g.80632742G>A	(Likely) benign	1 lab	53d43caa57
X:22244591 PHEX T>C	X	22244591	22244591	T	C	PHEX	c.1931T>C	NM_000444.5	NP_000435.3:p.(Ile644Thr)	NC_000023.10:g.22244591T>C	VUS	1 lab	53d486a727
1:145518136 PEX11B G>A	1	145518136	145518136	G	A	PEX11B	c.238G>A	NM_003846.2	NP_003837.1:p.(Val80Ile)	NC_000001.10:g.145518136G>A	(Likely) benign	1 lab	53d64b5d84
3:138665099 FOXL2 G>A	3	138665099	138665099	G	A	FOXL2	c.466C>T	NM_023067.4	NP_075555.1:p.(Pro156Ser)	NC_000003.11:g.138665099G>A	VUS	1 lab	f10d86318e
11:133789895 MISSING G>C	11	133789895	133789895	G	C	MISSING				NC_000011.9:g.133789895G>C	VUS	1 lab	53d7c50e00
9:137704300 COL5A1 G>A	9	137704300	137704300	G	A	COL5A1	c.3696G>A	NM_000093.4	NP_000084.3:p.(Leu1232=)	NC_000009.11:g.137704300G>A	(Likely) benign	1 lab	53d965b8ae
18:61264338 SERPINB13 G>A	18	61264338	61264338	G	A	SERPINB13	c.509G>A	NM_001348268.1	NP_001335197.1:p.(Gly170Asp)	NC_000018.9:g.61264338G>A	VUS	1 lab	53db03858a
6:138192624 TNFAIP3 G>A	6	138192624	138192624	G	A	TNFAIP3	c.260G>A	NM_001270508.2	NP_001257437.1:p.(Arg87Gln)	NC_000006.11:g.138192624G>A	VUS	1 lab	53dcc640c8
10:135186806 ECHS1 A>G	10	135186806	135186806	A	G	ECHS1	c.32T>C	NM_004092.4	NP_004083.3:p.(Val11Ala)	NC_000010.10:g.135186806A>G	(Likely) benign	1 lab	f11169bad6
X:74282155 ABCB7 T>C	X	74282155	74282155	T	C	ABCB7	c.1938+8A>G	NM_004299.6	NP_004290.2:p.?	NC_000023.10:g.74282155T>C	(Likely) benign	1 lab	53e139be6d
11:6532615 DNHD1 C>T	11	6532615	6532615	C	T	DNHD1	c.1348C>T	NM_144666.2	NP_653267.2:p.(Leu450=)	NC_000011.9:g.6532615C>T	VUS	1 lab	53e295df93
4:79461922 FRAS1 G>A	4	79461922	79461922	G	A	FRAS1	c.11683G>A	NM_025074.7	NP_079350.5:p.(Val3895Ile)	NC_000004.11:g.79461922G>A	(Likely) benign	1 lab	53e2ca8295
13:60545158 DIAPH3 G>A	13	60545158	60545158	G	A	DIAPH3	c.1787C>T	NM_001042517.1	NP_001035982.1:p.(Pro596Leu)	NC_000013.10:g.60545158G>A	(Likely) benign	1 lab	53e2f0bff8
X:37027568 FAM47C G>A	X	37027568	37027568	G	A	FAM47C	c.1085G>A	NM_001013736.2	NP_001013758.1:p.(Arg362His)	NC_000023.10:g.37027568G>A	(Likely) benign	1 lab	53e3d3bad9
3:48627712 COL7A1 G>A	3	48627712	48627712	G	A	COL7A1	c.1984C>T	NM_000094.4	NP_000085.1:p.(Gln662Ter)	NC_000003.11:g.48627712G>A	(Likely) pathogenic	1 lab	f116fe4d0b
14:105414705 AHNAK2 G>C	14	105414705	105414705	G	C	AHNAK2	c.7083C>G	NM_138420.3	NP_612429.2:p.(Leu2361=)	NC_000014.8:g.105414705G>C	(Likely) benign	1 lab	53e4ce715c
X:41334022 NYX A>G	X	41334022	41334022	A	G	NYX	c.1316A>G	NM_022567.2	NP_072089.1:p.(Asn439Ser)	NC_000023.10:g.41334022A>G	VUS	1 lab	53e4d350d2
5:178634607 ADAMTS2 G>A	5	178634607	178634607	G	A	ADAMTS2	c.798C>T	NM_014244.4	NP_055059.2:p.(Tyr266=)	NC_000005.9:g.178634607G>A	(Likely) benign	1 lab	53e5efd4c3
1:12405573 VPS13D G>A	1	12405573	12405573	G	A	VPS13D	c.9021+7G>A	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12405573G>A	(Likely) benign	1 lab	53e663def9
15:99672581 SYNM CAGAG>C	15	99672581	99672587	CAGAG	C	SYNM	c.4019_4022del	NM_145728.3	NP_663780.2:p.(Glu1340AlafsTer26)	NC_000015.9:g.99672584_99672587del	VUS	1 lab	53e6e3aa12
1:152277720 FLG A>G	1	152277720	152277720	A	G	FLG	c.9642T>C	NM_002016.1	NP_002007.1:p.(Ser3214=)	NC_000001.10:g.152277720A>G	VUS	1 lab	53e7920526
12:50727719 FAM186A T>C	12	50727719	50727719	T	C	FAM186A	c.6671A>G	NM_001145475.2	NP_001138947.1:p.(Lys2224Arg)	NC_000012.11:g.50727719T>C	(Likely) benign	1 lab	53e841737a
17:48678107 CACNA1G C>T	17	48678107	48678107	C	T	CACNA1G	c.3711C>T	NM_018896.4	NP_061496.2:p.(Arg1237=)	NC_000017.10:g.48678107C>T	(Likely) benign	1 lab	53e84f2aa6
11:47367758 MYBPC3 C>T	11	47367758	47367758	C	T	MYBPC3	c.1090G>A	NM_000256.3	NP_000247.2:p.(Ala364Thr)	NC_000011.9:g.47367758C>T	VUS	1 lab	53e873a247
6:158923202 TULP4 C>T	6	158923202	158923202	C	T	TULP4	c.2507C>T	NM_020245.5	NP_064630.2:p.(Pro836Leu)	NC_000006.11:g.158923202C>T	VUS	1 lab	53e98251e9
18:44157836 LOXHD1 G>C	18	44157836	44157836	G	C	LOXHD1	c.1810-6C>G	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44157836G>C	(Likely) benign	1 lab	53ea97eff9
X:152827670 ATP2B3 T>C	X	152827670	152827670	T	C	ATP2B3	c.3129T>C	NM_021949.3	NP_068768.2:p.(Phe1043=)	NC_000023.10:g.152827670T>C	(Likely) benign	1 lab	53ea9a5ff3
1:215821013 USH2A C>G	1	215821013	215821013	C	G	USH2A	c.14642G>C	NM_206933.2	NP_996816.2:p.(Ser4881Thr)	NC_000001.10:g.215821013C>G	(Likely) benign	1 lab	53eb7942a6
X:154250687 F8 T>C	X	154250687	154250687	T	C	F8	c.141A>G	NM_000132.3	NP_000123.1:p.(Ala47=)	NC_000023.10:g.154250687T>C	VUS	1 lab	53eb9efc01
1:16459996 EPHA2 C>T	1	16459996	16459996	C	T	EPHA2	c.1844G>A	NM_004431.4	NP_004422.2:p.(Arg615Gln)	NC_000001.10:g.16459996C>T	VUS	1 lab	53ebd8167c
19:48640942 LIG1 C>T	19	48640942	48640942	C	T	LIG1	c.1088G>A	NM_001320970.1	NP_001307899.1:p.(Arg363Gln)	NC_000019.9:g.48640942C>T	VUS	1 lab	53ed0ec605
10:89720808 PTEN T>A	10	89720808	89720808	T	A	PTEN	c.368T>A	NM_001304718.2	NP_001291647.1:p.(Leu123Ter)	NC_000010.10:g.89720808T>A	(Likely) pathogenic	1 lab	53f41c510f
9:35720187 TLN1 C>T	9	35720187	35720187	C	T	TLN1	c.1313G>A	NM_006289.4	NP_006280.3:p.(Arg438Gln)	NC_000009.11:g.35720187C>T	VUS	1 lab	53f7a48dad
14:101348849 RTL1 G>A	14	101348849	101348849	G	A	RTL1	c.2277C>T	NM_001134888.2	NP_001128360.1:p.(His759=)	NC_000014.8:g.101348849G>A	(Likely) benign	1 lab	53f7ff7f4f
15:55970156 PRTG C>T	15	55970156	55970156	C	T	PRTG	c.1220G>A	NM_173814.6	NP_776175.2:p.(Arg407Lys)	NC_000015.9:g.55970156C>T	(Likely) benign	1 lab	53fa555cd6
7:21913089 DNAH11 T>A	7	21913089	21913089	T	A	DNAH11				NC_000007.13:g.21913089T>A	VUS	1 lab	53fc9c1c9f
6:35443268 TEAD3 G>A	6	35443268	35443268	G	A	TEAD3	c.1042-3C>T	NM_003214.4	NP_003205.2:p.?	NC_000006.11:g.35443268G>A	(Likely) benign	1 lab	53fd3c83d8
6:102511866 GRIK2 C>T	6	102511866	102511866	C	T	GRIK2	c.2592C>T	NM_175768.3	NP_786944.1:p.(Tyr864=)	NC_000006.11:g.102511866C>T	(Likely) benign	1 lab	53ff52af2f
X:7243431 STS G>A	X	7243431	7243431	G	A	STS	c.1169G>A	NM_001320750.1	NP_001307679.1:p.(Arg390His)	NC_000023.10:g.7243431G>A	VUS	1 lab	540167ce99
11:76903183 MYO7A C>T	11	76903183	76903183	C	T	MYO7A	c.4012C>T	NM_000260.3	NP_000251.3:p.(Arg1338Cys)	NC_000011.9:g.76903183C>T	VUS	1 lab	5401b6c8ce
9:334277 DOCK8 G>A	9	334277	334277	G	A	DOCK8	c.1178G>A	NM_203447.3	NP_982272.2:p.(Arg393His)	NC_000009.11:g.334277G>A	VUS	1 lab	5402405b60
17:81006628 QTGAL A>G	17	81006628	81006628	A	G	QTGAL	c.52T>C	NM_001320742.1	NP_001307671.1:p.(Trp18Arg)	NC_000017.10:g.81006628A>G	VUS	1 lab	5402c31639
11:47711679 AGBL2 A>T	11	47711679	47711679	A	T	AGBL2	c.1580T>A	NM_024783.4	NP_079059.2:p.(Ile527Asn)	NC_000011.9:g.47711679A>T	(Likely) benign	1 lab	5404e3c77f
X:19410478 MAP3K15 C>T	X	19410478	19410478	C	T	MAP3K15	c.2308G>A	NM_001001671.3	NP_001001671.3:p.(Val770Met)	NC_000023.10:g.19410478C>T	VUS	1 lab	540579ae64
16:31309175 ITGAM C>T	16	31309175	31309175	C	T	ITGAM	c.1610C>T	NM_001145808.1	NP_001139280.1:p.(Thr537Met)	NC_000016.9:g.31309175C>T	VUS	1 lab	540581509f
2:152544806 NEB A>G	2	152544806	152544806	A	G	NEB	c.2415T>C	NM_001271208.1	NP_001258137.1:p.(Asp805=)	NC_000002.11:g.152544806A>G	(Likely) benign	1 lab	54070af9df
16:50733595 NOD2 C>T	16	50733595	50733595	C	T	NOD2	c.270C>T	NM_022162.1	NP_071445.1:p.(Asp90=)	NC_000016.9:g.50733595C>T	(Likely) benign	1 lab	54071553db
8:52732972 PCMTD1 A>AT	8	52732972	52732978	A	AT	PCMTD1	c.1012dup	NM_052937.4	NP_443169.2:p.(Ile338AsnfsTer8)	NC_000008.10:g.52732978dup	(Likely) benign	1 lab	5407f56cdd
18:55399032 ATP8B1 G>T	18	55399032	55399032	G	T	ATP8B1	c.8C>A	NM_005603.6	NP_005594.2:p.(Thr3Lys)	NC_000018.9:g.55399032G>T	(Likely) benign	1 lab	5408052afa
11:119077178 CBL C>T	11	119077178	119077178	C	T	CBL	c.51C>T	NM_005188.3	NP_005179.2:p.(Ser17=)	NC_000011.9:g.119077178C>T	(Likely) benign	1 lab	5408844139
4:183601776 TENM3 G>A	4	183601776	183601776	G	A	TENM3	c.1720G>A	NM_001080477.3	NP_001073946.1:p.(Glu574Lys)	NC_000004.11:g.183601776G>A	VUS	1 lab	540909bb1f
7:82584015 PCLO G>T	7	82584015	82584015	G	T	PCLO	c.6254C>A	NM_033026.5	NP_149015.2:p.(Ala2085Asp)	NC_000007.13:g.82584015G>T	(Likely) benign	1 lab	5409ae3fd8
17:61790917 STRADA G>C	17	61790917	61790917	G	C	STRADA	c.227-30C>G	NM_001003787.3	NP_001003787.1:p.?	NC_000017.10:g.61790917G>C	(Likely) benign	1 lab	540f45352d
22:30077425 NF2 C>A	22	30077425	30077425	C	A	NF2	c.1575-3C>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30077425C>A	VUS	1 lab	54108ae130
19:1467873 APC2 C>A	19	1467873	1467873	C	A	APC2	c.4573C>A	NM_005883.2	NP_005874.1:p.(Pro1525Thr)	NC_000019.9:g.1467873C>A	(Likely) benign	1 lab	5410911978
7:92734802 SAMD9 T>C	7	92734802	92734802	T	C	SAMD9	c.609A>G	NM_017654.3	NP_060124.2:p.(Thr203=)	NC_000007.13:g.92734802T>C	(Likely) benign	1 lab	5414fdfecc
13:41373319 SLC25A15 G>A	13	41373319	41373319	G	A	SLC25A15	c.182G>A	NM_014252.3	NP_055067.1:p.(Arg61His)	NC_000013.10:g.41373319G>A	(Likely) benign	1 lab	5417aeba02
2:179505366 TTN T>C	2	179505366	179505366	T	C	TTN	c.40634-9A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179505366T>C	(Likely) benign	1 lab	5418913a69
16:67202946 HSF4 G>A	16	67202946	67202946	G	A	HSF4	c.1196G>A	NM_001040667.2	NP_001035757.1:p.(Gly399Asp)	NC_000016.9:g.67202946G>A	VUS	1 lab	5418fa649d
5:55264181 IL6ST C>T	5	55264181	55264181	C	T	IL6ST	c.414G>A	NM_002184.4	NP_002175.2:p.(Glu138=)	NC_000005.9:g.55264181C>T	(Likely) benign	1 lab	541a9d6d48
1:183083851 LAMC1 G>C	1	183083851	183083851	G	C	LAMC1	c.1207G>C	NM_002293.3	NP_002284.3:p.(Val403Leu)	NC_000001.10:g.183083851G>C	VUS	1 lab	541bde1321
2:225338963 CUL3 T>G	2	225338963	225338963	T	G	CUL3	c.2306A>C	NM_003590.5	NP_003581.1:p.(Ter769SerextTer22)	NC_000002.11:g.225338963T>G	VUS	1 lab	f118e9098d
8:100829831 VPS13B G>C	8	100829831	100829831	G	C	VPS13B	c.8236G>C	NM_017890.4	NP_060360.3:p.(Val2746Leu)	NC_000008.10:g.100829831G>C	VUS	1 lab	541ed0b97e
8:145003593 PLEC C>T	8	145003593	145003593	C	T	PLEC	c.3151G>A	NM_000445.5	NP_000436.2:p.(Ala1051Thr)	NC_000008.10:g.145003593C>T	(Likely) benign	1 lab	f11f17d273
X:20062561 MAP7D2 T>C	X	20062561	20062561	T	C	MAP7D2	c.800A>G	NM_001168465.2	NP_001161937.1:p.(Lys267Arg)	NC_000023.10:g.20062561T>C	(Likely) benign	1 lab	541f3acd6a
2:109379890 RANBP2 T>C	2	109379890	109379890	T	C	RANBP2	c.2895T>C	NM_006267.4	NP_006258.3:p.(Asn965=)	NC_000002.11:g.109379890T>C	(Likely) benign	1 lab	541f4411d0
X:69607097 KIF4A C>T	X	69607097	69607097	C	T	KIF4A	c.2182C>T	NM_012310.4	NP_036442.3:p.(Arg728Trp)	NC_000023.10:g.69607097C>T	VUS	1 lab	541f881672
2:166797646 TTC21B C>T	2	166797646	166797646	C	T	TTC21B	c.601G>A	NM_024753.4	NP_079029.3:p.(Val201Met)	NC_000002.11:g.166797646C>T	(Likely) benign	1 lab	5420d851a1
9:100449455 XPA GCTCT>G	9	100449455	100449461	GCTCT	G	XPA	c.474_477del	NM_000380.4	NP_000371.1:p.(Arg158SerfsTer8)	NC_000009.11:g.100449458_100449461del	(Likely) pathogenic	1 lab	5420e4eb08
X:136649138 ZIC3 C>T	X	136649138	136649138	C	T	ZIC3	c.288C>T	NM_003413.3	NP_003404.1:p.(His96=)	NC_000023.10:g.136649138C>T	(Likely) benign	1 lab	54224f242f
7:100859469 PLOD3 C>T	7	100859469	100859469	C	T	PLOD3	c.477G>A	NM_001084.4	NP_001075.1:p.(Thr159=)	NC_000007.13:g.100859469C>T	(Likely) benign	1 lab	5423552278
14:58949333 KIAA0586 C>T	14	58949333	58949333	C	T	KIAA0586	c.3047C>T	NM_001329943.2	NP_001316872.1:p.(Thr1016Ile)	NC_000014.8:g.58949333C>T	VUS	1 lab	5423c9487c
X:17744398 NHS T>A	X	17744398	17744398	T	A	NHS	c.2172T>A	NM_001291867.1	NP_001278796.1:p.(Asn724Lys)	NC_000023.10:g.17744398T>A	(Likely) benign	1 lab	542480cc86
19:50017258 FCGRT C>G	19	50017258	50017258	C	G	FCGRT	c.193C>G	NM_001136019.2	NP_001129491.1:p.(Arg65Gly)	NC_000019.9:g.50017258C>G	(Likely) benign	1 lab	542554807b
14:58958914 KIAA0586 T>A	14	58958914	58958914	T	A	KIAA0586	c.3911T>A	NM_001329943.2	NP_001316872.1:p.(Phe1304Tyr)	NC_000014.8:g.58958914T>A	VUS	1 lab	5425d25969
2:211542690 CPS1 GT>G	2	211542690	211542691	GT	G	CPS1	c.4485del	NM_001875.5	NP_001866.2:p.(Ser1495ArgfsTer25)	NC_000002.11:g.211542691del	VUS	1 lab	5426b7a328
1:34663487 C1orf94 C>T	1	34663487	34663487	C	T	C1orf94	c.982C>T	NM_001134734.2	NP_001128206.1:p.(Pro328Ser)	NC_000001.10:g.34663487C>T	(Likely) benign	1 lab	5427369433
9:100234633 TDRD7 T>C	9	100234633	100234633	T	C	TDRD7	c.1800T>C	NM_014290.2	NP_055105.2:p.(Cys600=)	NC_000009.11:g.100234633T>C	(Likely) benign	1 lab	542860e13d
18:53131313 TCF4 C>T	18	53131313	53131313	C	T	TCF4	c.201G>A	NM_001083962.1	NP_001077431.1:p.(Pro67=)	NC_000018.9:g.53131313C>T	(Likely) benign	1 lab	5428e23944
15:28260067 OCA2 A>AC	15	28260067	28260069	A	AC	OCA2	c.898dup	NM_000275.2	NP_000266.2:p.(Val300GlyfsTer49)	NC_000015.9:g.28260069dup	(Likely) pathogenic	1 lab	5429eacc7f
2:27449802 CAD A>G	2	27449802	27449802	A	G	CAD	c.2259A>G	NM_004341.4	NP_004332.2:p.(Thr753=)	NC_000002.11:g.27449802A>G	(Likely) benign	1 lab	542a17ead8
2:48018319 MSH6 GAA>G	2	48018319	48018322	GAA	G	MSH6	c.457+59_457+60del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48018321_48018322del	(Likely) benign	1 lab	542d0c5144
X:153599444 FLNA AG>A	X	153599444	153599446	AG	A	FLNA	c.169del	NM_001110556.2	NP_001104026.1:p.(Leu57Ter)	NC_000023.10:g.153599446del	(Likely) pathogenic	1 lab	542df6fee2
1:110553915 AHCYL1 T>C	1	110553915	110553915	T	C	AHCYL1	c.171T>C	NM_001242673.1	NP_001229602.1:p.(Asn57=)	NC_000001.10:g.110553915T>C	(Likely) benign	1 lab	542dfc4402
12:111893984 ATXN2 A>G	12	111893984	111893984	A	G	ATXN2	c.3593T>C	NM_002973.3	NP_002964.3:p.(Leu1198Pro)	NC_000012.11:g.111893984A>G	VUS	1 lab	542e12f359
5:150946743 FAT2 T>A	5	150946743	150946743	T	A	FAT2	c.1750A>T	NM_001447.2	NP_001438.1:p.(Met584Leu)	NC_000005.9:g.150946743T>A	(Likely) benign	1 lab	542f603c2d
16:53730153 RPGRIP1L C>T	16	53730153	53730153	C	T	RPGRIP1L	c.140G>A	NM_015272.4	NP_056087.2:p.(Arg47His)	NC_000016.9:g.53730153C>T	VUS	1 lab	542f99bbd2
15:52645803 MYO5A T>C	15	52645803	52645803	T	C	MYO5A	c.3620A>G	NM_000259.3	NP_000250.3:p.(Lys1207Arg)	NC_000015.9:g.52645803T>C	VUS	1 lab	5432000640
19:3586840 GIPC3 G>A	19	3586840	3586840	G	A	GIPC3	c.440G>A	NM_133261.2	NP_573568.1:p.(Arg147Gln)	NC_000019.9:g.3586840G>A	VUS	1 lab	543764fd2a
X:27999413 DCAF8L1 G>A	X	27999413	27999413	G	A	DCAF8L1	c.39C>T	NM_001017930.1	NP_001017930.1:p.(Asp13=)	NC_000023.10:g.27999413G>A	(Likely) benign	1 lab	544dab33bb
16:2121830 TSC2 T>C	16	2121830	2121830	T	C	TSC2	c.1992T>C	NM_000548.5	NP_000539.2:p.(Ser664=)	NC_000016.9:g.2121830T>C	(Likely) benign	1 lab	f121fb5095
2:26684574 OTOF G>A	2	26684574	26684574	G	A	OTOF	c.5523C>T	NM_194248.2	NP_919224.1:p.(Asp1841=)	NC_000002.11:g.26684574G>A	(Likely) benign	1 lab	543bd4ca01
6:109802347 ZBTB24 G>A	6	109802347	109802347	G	A	ZBTB24	c.883C>T	NM_014797.3	NP_055612.2:p.(Arg295Cys)	NC_000006.11:g.109802347G>A	VUS	1 lab	f122d2f67a
1:54059825 GLIS1 T>C	1	54059825	54059825	T	C	GLIS1	c.751A>G	NM_147193.2	NP_671726.2:p.(Ile251Val)	NC_000001.10:g.54059825T>C	VUS	1 lab	543f83675d
5:82841450 VCAN C>T	5	82841450	82841450	C	T	VCAN	c.9360C>T	NM_004385.4	NP_004376.2:p.(Ser3120=)	NC_000005.9:g.82841450C>T	(Likely) benign	1 lab	5440c1e032
8:101277003 RNF19A C>T	8	101277003	101277003	C	T	RNF19A	c.1202G>A	NM_001353837.1	NP_001340766.1:p.(Arg401His)	NC_000008.10:g.101277003C>T	(Likely) benign	1 lab	5443ae255a
7:33407369 BBS9 T>C	7	33407369	33407369	T	C	BBS9	c.1421-10T>C	NM_001348038.2	NP_001334967.1:p.?	NC_000007.13:g.33407369T>C	(Likely) benign	1 lab	54446bf0a6
16:50744565 NOD2 T>G	16	50744565	50744565	T	G	NOD2	c.743T>G	NM_022162.1	NP_071445.1:p.(Leu248Arg)	NC_000016.9:g.50744565T>G	VUS	1 lab	5449876078
21:45750598 CFAP410 C>A	21	45750598	45750598	C	A	CFAP410	c.747G>T	NM_001271441.1	NP_001258370.1:p.(Glu249Asp)	NC_000021.8:g.45750598C>A	VUS	1 lab	544b913b1b
8:97307371 PTDSS1 AGCCACTTT>A	8	97307371	97307380	AGCCACTTT	A	PTDSS1	c.489_496del	NM_014754.3	NP_055569.1:p.(Ser163ArgfsTer20)	NC_000008.10:g.97307373_97307380del	VUS	1 lab	544c365d17
12:112460196 ERP29 G>T	12	112460196	112460196	G	T	ERP29	c.526G>T	NM_006817.4	NP_006808.1:p.(Ala176Ser)	NC_000012.11:g.112460196G>T	(Likely) benign	1 lab	544c43f156
2:179588040 TTN A>C	2	179588040	179588040	A	C	TTN	c.21694T>G	NM_001267550.1	NP_001254479.1:p.(Phe7232Val)	NC_000002.11:g.179588040A>C	VUS	1 lab	544d0d8211
16:2122269 TSC2 GT>G	16	2122269	2122271	GT	G	TSC2	c.2127del	NM_000548.5	NP_000539.2:p.(Leu710TrpfsTer61)	NC_000016.9:g.2122271del	(Likely) pathogenic	1 lab	544dc50f4a
7:45077876 CCM2 C>T	7	45077876	45077876	C	T	CCM2	c.55C>T	NM_031443.3	NP_113631.1:p.(Arg19Ter)	NC_000007.13:g.45077876C>T	(Likely) pathogenic	1 lab	54528361ee
12:7045891 ATN1 ACAGCAGCAGCAGCAGCAGCAGCAG>A	12	7045891	7045938	ACAGCAGCAGCAGCAGCAGCAGCAG	A	ATN1	c.1485_1508del	NM_001940.4	NP_001931.2:p.(Gln495_Gln502del)	NC_000012.11:g.7045915_7045938del	VUS	1 lab	54531318b7
11:111782469 CRYAB G>A	11	111782469	111782469	G	A	CRYAB	c.-21C>T	NM_001885.3	NP_001876.1:p.?	NC_000011.9:g.111782469G>A	(Likely) benign	1 lab	f122e01ff5
3:48506317 ATRIP C>T	3	48506317	48506317	C	T	ATRIP	c.2143C>T	NM_130384.3	NP_569055.1:p.(Arg715Trp)	NC_000003.11:g.48506317C>T	VUS	1 lab	545655ed0c
4:517683 PIGG C>T	4	517683	517683	C	T	PIGG	c.952C>T	NM_001345994.1	NP_001332923.1:p.(Leu318Phe)	NC_000004.11:g.517683C>T	(Likely) benign	1 lab	5457374809
X:135445690 ADGRG4 A>G	X	135445690	135445690	A	G	ADGRG4	c.7332A>G	NM_153834.3	NP_722576.3:p.(Gln2444=)	NC_000023.10:g.135445690A>G	(Likely) benign	1 lab	545c3af338
17:40719272 MLX C>G	17	40719272	40719272	C	G	MLX	c.130C>G	NM_170607.2	NP_733752.1:p.(Leu44Val)	NC_000017.10:g.40719272C>G	VUS	1 lab	545df55c36
15:57925929 MYZAP G>A	15	57925929	57925929	G	A	MYZAP	c.923G>A	NM_001018100.5	NP_001018110.1:p.(Arg308His)	NC_000015.9:g.57925929G>A	VUS	1 lab	f125bd56b9
9:14740140 FREM1 T>C	9	14740140	14740140	T	C	FREM1	c.6340+7A>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14740140T>C	(Likely) benign	1 lab	545e4645ec
2:71351536 MCEE T>G	2	71351536	71351536	T	G	MCEE	c.178A>C	NM_032601.3	NP_115990.3:p.(Lys60Gln)	NC_000002.11:g.71351536T>G	(Likely) benign	1 lab	545e89b9a6
X:13778282 OFD1 G>A	X	13778282	13778282	G	A	OFD1	c.1283G>A	NM_001330210.1	NP_001317139.1:p.(Arg428His)	NC_000023.10:g.13778282G>A	(Likely) benign	1 lab	545f0a22a3
2:69597146 GFPT1 A>T	2	69597146	69597146	A	T	GFPT1	c.210T>A	NM_001244710.1	NP_001231639.1:p.(Asp70Glu)	NC_000002.11:g.69597146A>T	(Likely) benign	1 lab	545f8303e4
Y:5369257 PCDH11Y A>C	Y	5369257	5369257	A	C	PCDH11Y	c.3289A>C	NM_032973.2	NP_116755.1:p.(Asn1097His)	NC_000024.9:g.5369257A>C	VUS	1 lab	54607c6011
3:52388947 DNAH1 C>T	3	52388947	52388947	C	T	DNAH1	c.3569C>T	NM_015512.4	NP_056327.4:p.(Pro1190Leu)	NC_000003.11:g.52388947C>T	VUS	1 lab	546110e664
17:29554333 NF1 C>A	17	29554333	29554333	C	A	NF1	c.2325+24C>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554333C>A	(Likely) benign	1 lab	5464c12e21
17:1639017 WDR81 G>C	17	1639017	1639017	G	C	WDR81	c.5325+6G>C	NM_001163809.1	NP_001157281.1:p.?	NC_000017.10:g.1639017G>C	(Likely) benign	1 lab	5465038b85
10:73406499 CDH23 T>A	10	73406499	73406499	T	A	CDH23	c.1574T>A	NM_052836.3	NP_443068.1:p.(Leu525Gln)	NC_000010.10:g.73406499T>A	VUS	1 lab	546628d6f1
9:134398375 POMT1 C>T	9	134398375	134398375	C	T	POMT1	c.2126C>T	NM_007171.3	NP_009102.3:p.(Ala709Val)	NC_000009.11:g.134398375C>T	VUS	1 lab	546896e696
15:90191993 KIF7 G>A	15	90191993	90191993	G	A	KIF7	c.936C>T	NM_198525.2	NP_940927.2:p.(Asp312=)	NC_000015.9:g.90191993G>A	(Likely) benign	1 lab	5468b556c8
9:117825467 TNC C>T	9	117825467	117825467	C	T	TNC	c.3762G>A	NM_002160.3	NP_002151.2:p.(Glu1254=)	NC_000009.11:g.117825467C>T	(Likely) benign	1 lab	5468ecaa60
5:13751344 DNAH5 T>C	5	13751344	13751344	T	C	DNAH5	c.11054A>G	NM_001369.2	NP_001360.1:p.(Asp3685Gly)	NC_000005.9:g.13751344T>C	VUS	1 lab	546a73d84d
X:51638826 MAGED1 G>A	X	51638826	51638826	G	A	MAGED1	c.891G>A	NM_001005333.1	NP_001005333.1:p.(Arg297=)	NC_000023.10:g.51638826G>A	(Likely) benign	1 lab	546abe8aa7
6:129618900 LAMA2 C>T	6	129618900	129618900	C	T	LAMA2	c.2927C>T	NM_000426.3	NP_000417.2:p.(Ser976Leu)	NC_000006.11:g.129618900C>T	VUS	1 lab	546b5f5bc1
12:102159085 GNPTAB A>G	12	102159085	102159085	A	G	GNPTAB	c.1613-3T>C	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102159085A>G	(Likely) benign	1 lab	546bf54826
1:23667354 HNRNPR A>G	1	23667354	23667354	A	G	HNRNPR	c.148T>C	NM_001102398.2	NP_001095868.1:p.(Phe50Leu)	NC_000001.10:g.23667354A>G	(Likely) benign	1 lab	546cc8963c
16:2135304 TSC2 T>C	16	2135304	2135304	T	C	TSC2	c.4643T>C	NM_000548.3	NP_000539.2:p.(Leu1548Pro)	NC_000016.9:g.2135304T>C	(Likely) pathogenic	1 lab	546d5762f3
2:44123758 LRPPRC G>A	2	44123758	44123758	G	A	LRPPRC	c.3900+15C>T	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44123758G>A	(Likely) benign	1 lab	f1261d546a
4:140282983 NAA15 C>T	4	140282983	140282983	C	T	NAA15	c.1645C>T	NM_057175.4	NP_476516.1:p.(Arg549Ter)	NC_000004.11:g.140282983C>T	(Likely) pathogenic	1 lab	546fb5e21e
3:147120605 ZIC4 T>C	3	147120605	147120605	T	C	ZIC4	c.-15-6A>G	NM_032153.5	NP_115529.2:p.?	NC_000003.11:g.147120605T>C	(Likely) benign	1 lab	547150c92d
16:2104425 TSC2 C>T	16	2104425	2104425	C	T	TSC2	c.465C>T	NM_000548.3	NP_000539.2:p.(Tyr155=)	NC_000016.9:g.2104425C>T	(Likely) benign	1 lab	547155de00
3:123386034 MYLK C>T	3	123386034	123386034	C	T	MYLK	c.3653G>A	NM_053025.3	NP_444253.3:p.(Ser1218Asn)	NC_000003.11:g.123386034C>T	(Likely) benign	1 lab	5476b77c08
16:77328919 ADAMTS18 T>G	16	77328919	77328919	T	G	ADAMTS18	c.2391A>C	NM_001326358.1	NP_001313287.1:p.(Ala797=)	NC_000016.9:g.77328919T>G	(Likely) benign	1 lab	5477415e6c
1:181732586 MISSING C>T	1	181732586	181732586	C	T	MISSING				NC_000001.10:g.181732586C>T	(Likely) benign	1 lab	54779d0237
11:76917244 MYO7A C>T	11	76917244	76917244	C	T	MYO7A	c.5739C>T	NM_000260.3	NP_000251.3:p.(Asp1913=)	NC_000011.9:g.76917244C>T	(Likely) benign	1 lab	5478c28167
8:55372258 SOX17 ACACCAGCACCAG>A	8	55372258	55372287	ACACCAGCACCAG	A	SOX17	c.966_977del	NM_022454.4	NP_071899.1:p.(Gln322_His325del)	NC_000008.10:g.55372276_55372287del	VUS	1 lab	f1267ce2cf
16:84213845 TAF1C G>A	16	84213845	84213845	G	A	TAF1C	c.1492C>T	NM_005679.3	NP_005670.3:p.(Arg498Trp)	NC_000016.9:g.84213845G>A	VUS	1 lab	547b66e854
3:186953597 MASP1 C>A	3	186953597	186953597	C	A	MASP1	c.2062G>T	NM_139125.3	NP_624302.1:p.(Gly688Ter)	NC_000003.11:g.186953597C>A	(Likely) pathogenic	1 lab	547bc24531
17:70119991 SOX9 G>A	17	70119991	70119991	G	A	SOX9	c.993G>A	NM_000346.3	NP_000337.1:p.(Ala331=)	NC_000017.10:g.70119991G>A	(Likely) benign	1 lab	547d51e038
11:61545851 MYRF G>C	11	61545851	61545851	G	C	MYRF	c.1904-1G>C	NM_001127392.2	NP_001120864.1:p.?	NC_000011.9:g.61545851G>C	(Likely) pathogenic	1 lab	547d6ba3a0
8:65509280 CYP7B1 T>C	8	65509280	65509280	T	C	CYP7B1	c.1440A>G	NM_004820.4	NP_004811.1:p.(Ile480Met)	NC_000008.10:g.65509280T>C	(Likely) benign	1 lab	547ebfb7e7
14:90459822 TDP1 C>T	14	90459822	90459822	C	T	TDP1	c.1536C>T	NM_018319.3	NP_060789.2:p.(Val512=)	NC_000014.8:g.90459822C>T	(Likely) benign	1 lab	547eca813d
11:16077331 SOX6 T>C	11	16077331	16077331	T	C	SOX6	c.1095A>G	NM_017508.3	NP_059978.2:p.(Glu365=)	NC_000011.9:g.16077331T>C	(Likely) benign	1 lab	547f756a60
X:53565893 HUWE1 C>G	X	53565893	53565893	C	G	HUWE1	c.11781G>C	NM_031407.6	NP_113584.3:p.(Thr3927=)	NC_000023.10:g.53565893C>G	(Likely) benign	1 lab	5480aa107a
21:27284211 APP G>T	21	27284211	27284211	G	T	APP	c.1751C>A	NM_000484.3	NP_000475.1:p.(Pro584Gln)	NC_000021.8:g.27284211G>T	VUS	1 lab	5482e74aae
10:73587913 PSAP T>C	10	73587913	73587913	T	C	PSAP	c.578A>G	NM_001042465.2	NP_001035930.1:p.(Asp193Gly)	NC_000010.10:g.73587913T>C	(Likely) benign	1 lab	548327b5eb
17:41244547 BRCA1 C>A	17	41244547	41244547	C	A	BRCA1	c.3001G>T	NM_007294.3	NP_009225.1:p.(Glu1001Ter)	NC_000017.10:g.41244547C>A	(Likely) pathogenic	1 lab	54839c675b
X:46712963 RP2 G>A	X	46712963	46712963	G	A	RP2	c.155G>A	NM_006915.2	NP_008846.2:p.(Arg52His)	NC_000023.10:g.46712963G>A	VUS	1 lab	54842d7b32
17:78305969 RNF213 C>T	17	78305969	78305969	C	T	RNF213	c.3681C>T	NM_001256071.2	NP_001243000.2:p.(Leu1227=)	NC_000017.10:g.78305969C>T	(Likely) benign	1 lab	5484b8319b
4:128627984 INTU T>C	4	128627984	128627984	T	C	INTU	c.2131T>C	NM_015693.4	NP_056508.2:p.(Cys711Arg)	NC_000004.11:g.128627984T>C	VUS	1 lab	5484e0b12f
9:2077728 SMARCA2 G>A	9	2077728	2077728	G	A	SMARCA2	c.2136G>A	NM_003070.4	NP_003061.3:p.(Val712=)	NC_000009.11:g.2077728G>A	(Likely) benign	1 lab	548555c211
21:19744587 TMPRSS15 G>T	21	19744587	19744587	G	T	TMPRSS15	c.587C>A	NM_002772.3	NP_002763.3:p.(Thr196Lys)	NC_000021.8:g.19744587G>T	VUS	1 lab	f1268b88f0
3:15686647 BTD C>T	3	15686647	15686647	C	T	BTD	c.1284C>T	NM_000060.4	NP_000051.1:p.(Tyr428=)	NC_000003.11:g.15686647C>T	(Likely) benign	1 lab	54885e39b5
11:6647870 DCHS1 C>T	11	6647870	6647870	C	T	DCHS1				NC_000011.9:g.6647870C>T	(Likely) benign	1 lab	63908fcc80
9:2644741 VLDLR C>T	9	2644741	2644741	C	T	VLDLR	c.1074C>T	NM_003383.4	NP_003374.3:p.(Asn358=)	NC_000009.11:g.2644741C>T	(Likely) benign	1 lab	548869013a
1:237862305 RYR2 G>C	1	237862305	237862305	G	C	RYR2	c.9108G>C	NM_001035.3	NP_001026.2:p.(Leu3036Phe)	NC_000001.10:g.237862305G>C	VUS	1 lab	f129b6812c
1:62979450 DOCK7 T>C	1	62979450	62979450	T	C	DOCK7	c.4056A>G	NM_001330614.1	NP_001317543.1:p.(Ser1352=)	NC_000001.10:g.62979450T>C	(Likely) benign	1 lab	548a529924
X:82763523 POU3F4 G>A	X	82763523	82763523	G	A	POU3F4	c.191G>A	NM_000307.4	NP_000298.3:p.(Gly64Glu)	NC_000023.10:g.82763523G>A	VUS	1 lab	548a7a390c
17:6364882 PITPNM3 G>A	17	6364882	6364882	G	A	PITPNM3	c.2307-6C>T	NM_031220.3	NP_112497.2:p.?	NC_000017.10:g.6364882G>A	(Likely) benign	1 lab	548ac937f3
3:15686777 BTD G>A	3	15686777	15686777	G	A	BTD	c.1414G>A	NM_000060.4	NP_000051.1:p.(Gly472Arg)	NC_000003.11:g.15686777G>A	VUS	1 lab	548b45bd74
X:129149253 BCORL1 G>A	X	129149253	129149253	G	A	BCORL1	c.2505G>A	NM_001184772.2	NP_001171701.1:p.(Pro835=)	NC_000023.10:g.129149253G>A	(Likely) benign	1 lab	548ce13eca
5:131034637 FNIP1 C>G	5	131034637	131034637	C	G	FNIP1	c.1175G>C	NM_133372.3	NP_588613.3:p.(Arg392Pro)	NC_000005.9:g.131034637C>G	VUS	1 lab	548f357bc4
12:8804268 MFAP5 A>AT	12	8804268	8804275	A	AT	MFAP5	c.236dup	NM_003480.3	NP_003471.1:p.(Asn79LysfsTer9)	NC_000012.11:g.8804275dup	(Likely) pathogenic	1 lab	549067df85
12:98992384 SLC25A3 A>G	12	98992384	98992384	A	G	SLC25A3	c.544A>G	NM_213611.2	NP_998776.1:p.(Met182Val)	NC_000012.11:g.98992384A>G	VUS	1 lab	5491acf220
3:184039193 EIF4G1 C>T	3	184039193	184039193	C	T	EIF4G1	c.842C>T	NM_001194946.1	NP_001181875.1:p.(Pro281Leu)	NC_000003.11:g.184039193C>T	VUS	1 lab	5495111c57
X:101971957 GPRASP2 G>A	X	101971957	101971957	G	A	GPRASP2	c.2160G>A	NM_001184874.2	NP_001171803.1:p.(Met720Ile)	NC_000023.10:g.101971957G>A	(Likely) benign	1 lab	5496207ffd
20:55750050 BMP7 G>A	20	55750050	55750050	G	A	BMP7	c.972C>T	NM_001719.2	NP_001710.1:p.(Ser324=)	NC_000020.10:g.55750050G>A	(Likely) benign	1 lab	5496f325b5
10:135106194 TUBGCP2 T>C	10	135106194	135106194	T	C	TUBGCP2	c.1109-2A>G	NM_001256617.1	NP_001243546.1:p.?	NC_000010.10:g.135106194T>C	(Likely) pathogenic	1 lab	5497346398
4:71500054 ENAM C>T	4	71500054	71500054	C	T	ENAM	c.240C>T	NM_031889.3	NP_114095.2:p.(Asn80=)	NC_000004.11:g.71500054C>T	(Likely) benign	1 lab	54976db72f
2:200298238 SATB2 C>T	2	200298238	200298238	C	T	SATB2	c.170-1G>A	NM_015265.4	NP_056080.1:p.?	NC_000002.11:g.200298238C>T	(Likely) pathogenic	1 lab	f13021ce38
11:6644721 DCHS1 T>A	11	6644721	6644721	T	A	DCHS1				NC_000011.9:g.6644721T>A	VUS	1 lab	5498a3308f
20:61938870 COL20A1 C>T	20	61938870	61938870	C	T	COL20A1	c.525C>T	NM_020882.2	NP_065933.2:p.(Pro175=)	NC_000020.10:g.61938870C>T	(Likely) benign	1 lab	5498c2f73e
9:72882836 SMC5 T>C	9	72882836	72882836	T	C	SMC5	c.328-3T>C	NM_015110.4	NP_055925.2:p.?	NC_000009.11:g.72882836T>C	(Likely) benign	1 lab	549b8e1315
19:42799013 CIC C>T	19	42799013	42799013	C	T	CIC	c.7224C>T	NM_001304815.1	NP_001291744.1:p.(Asp2408=)	NC_000019.9:g.42799013C>T	(Likely) benign	1 lab	549bea6fc4
2:152737380 CACNB4 G>A	2	152737380	152737380	G	A	CACNB4	c.183C>T	NM_001320722.2	NP_001307651.1:p.(Asp61=)	NC_000002.11:g.152737380G>A	(Likely) benign	1 lab	549c4dab97
X:24082402 EIF2S3 A>C	X	24082402	24082402	A	C	EIF2S3	c.722A>C	NM_001415.3	NP_001406.1:p.(Lys241Thr)	NC_000023.10:g.24082402A>C	VUS	1 lab	549cf07298
11:71148959 DHCR7 C>T	11	71148959	71148959	C	T	DHCR7	c.862G>A	NM_001360.2	NP_001351.2:p.(Glu288Lys)	NC_000011.9:g.71148959C>T	(Likely) pathogenic	1 lab	549d9e7ffb
16:74748137 FA2H T>C	16	74748137	74748137	T	C	FA2H	c.1070A>G	NM_024306.4	NP_077282.3:p.(Tyr357Cys)	NC_000016.9:g.74748137T>C	VUS	1 lab	549e035d9d
X:48759207 PQBP1 C>T	X	48759207	48759207	C	T	PQBP1	c.180C>T	NM_005710.2	NP_005701.1:p.(Cys60=)	NC_000023.10:g.48759207C>T	(Likely) benign	1 lab	549e726239
10:115364648 NRAP C>T	10	115364648	115364648	C	T	NRAP	c.3947G>A	NM_001261463.2	NP_001248392.1:p.(Arg1316Gln)	NC_000010.10:g.115364648C>T	VUS	1 lab	f131a6392d
16:56518688 BBS2 C>T	16	56518688	56518688	C	T	BBS2	c.2151G>A	NM_031885.3	NP_114091.3:p.(Gly717=)	NC_000016.9:g.56518688C>T	(Likely) benign	1 lab	549fa8bcc6
15:44892793 SPG11 G>C	15	44892793	44892793	G	C	SPG11	c.3558C>G	NM_025137.4	NP_079413.3:p.(Asp1186Glu)	NC_000015.9:g.44892793G>C	VUS	1 lab	f131e452f5
6:144832189 UTRN G>A	6	144832189	144832189	G	A	UTRN	c.4874G>A	NM_007124.2	NP_009055.2:p.(Arg1625Lys)	NC_000006.11:g.144832189G>A	(Likely) benign	1 lab	54a2fffaf0
6:32819922 TAP1 G>A	6	32819922	32819922	G	A	TAP1	c.988C>T	NM_000593.5	NP_000584.2:p.(Arg330Cys)	NC_000006.11:g.32819922G>A	VUS	1 lab	54a39594a0
11:130784449 SNX19 G>A	11	130784449	130784449	G	A	SNX19	c.1386C>T	NM_014758.2	NP_055573.2:p.(Thr462=)	NC_000011.9:g.130784449G>A	(Likely) benign	1 lab	54a5c75c02
8:95654198 ESRP1 C>T	8	95654198	95654198	C	T	ESRP1	c.147C>T	NM_001034915.2	NP_001030087.2:p.(His49=)	NC_000008.10:g.95654198C>T	(Likely) benign	1 lab	54a615dff7
X:100656671 GLA G>GGA	X	100656671	100656672	G	GGA	GLA	c.495_496insTC	NM_000169.2	NP_000160.1:p.(Leu166SerfsTer3)	NC_000023.10:g.100656671_100656672insGA	VUS	1 lab	54a7f76176
12:80752544 OTOGL C>T	12	80752544	80752544	C	T	OTOGL	c.6188C>T	NM_173591.3	NP_775862.3:p.(Thr2063Ile)	NC_000012.11:g.80752544C>T	(Likely) benign	1 lab	54a8893f63
5:169484577 DOCK2 C>T	5	169484577	169484577	C	T	DOCK2	c.4381-7C>T	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169484577C>T	(Likely) benign	1 lab	54ab83c50f
18:47812123 CXXC1 G>A	18	47812123	47812123	G	A	CXXC1	c.635C>T	NM_001101654.1	NP_001095124.1:p.(Ala212Val)	NC_000018.9:g.47812123G>A	VUS	1 lab	54ac9d9ac2
14:45645069 FANCM C>T	14	45645069	45645069	C	T	FANCM	c.3112C>T	NM_020937.2	NP_065988.1:p.(Leu1038=)	NC_000014.8:g.45645069C>T	(Likely) benign	1 lab	54ad4c6daf
6:31864888 EHMT2 C>T	6	31864888	31864888	C	T	EHMT2	c.92G>A	NM_001289413.1	NP_001276342.1:p.(Gly31Glu)	NC_000006.11:g.31864888C>T	(Likely) benign	1 lab	54adc933f4
2:179482989 TTN C>G	2	179482989	179482989	C	G	TTN	c.47196G>C	NM_001267550.1	NP_001254479.1:p.(Val15732=)	NC_000002.11:g.179482989C>G	(Likely) benign	1 lab	54ae8621c8
16:89346820 ANKRD11 CG>C	16	89346820	89346822	CG	C	ANKRD11	c.6129del	NM_013275.6	NP_037407.4:p.(Val2044SerfsTer43)	NC_000016.9:g.89346822del	(Likely) pathogenic	1 lab	54af0e9223
19:5893098 NDUFA11 A>T	19	5893098	5893098	A	T	NDUFA11	c.517T>A	NM_001193375.1	NP_001180304.1:p.(Cys173Ser)	NC_000019.9:g.5893098A>T	(Likely) benign	1 lab	54af727d8a
2:26415198 HADHA G>A	2	26415198	26415198	G	A	HADHA	c.1981C>T	NM_000182.4	NP_000173.2:p.(Leu661=)	NC_000002.11:g.26415198G>A	(Likely) benign	1 lab	54b0542a36
X:13791089 GPM6B G>C	X	13791089	13791089	G	C	GPM6B	c.898C>G	NM_001001995.3	NP_001001995.1:p.(Gln300Glu)	NC_000023.10:g.13791089G>C	(Likely) benign	1 lab	54b2cd0585
16:89715881 CHMP1A A>T	16	89715881	89715881	A	T	CHMP1A	c.110T>A	NM_001083314.3	NP_001076783.1:p.(Val37Glu)	NC_000016.9:g.89715881A>T	VUS	1 lab	54b38ea85c
9:12709091 TYRP1 A>G	9	12709091	12709091	A	G	TYRP1	c.1523A>G	NM_000550.2	NP_000541.1:p.(Asp508Gly)	NC_000009.11:g.12709091A>G	(Likely) benign	1 lab	54b3f3762c
9:33351619 NFX1 C>T	9	33351619	33351619	C	T	NFX1	c.2489C>T	NM_001318758.1	NP_001305687.1:p.(Thr830Met)	NC_000009.11:g.33351619C>T	(Likely) benign	1 lab	54b5cb3275
4:22422680 ADGRA3 G>A	4	22422680	22422680	G	A	ADGRA3	c.1638C>T	NM_145290.3	NP_660333.2:p.(Val546=)	NC_000004.11:g.22422680G>A	(Likely) benign	1 lab	54b5e449cb
7:4820928 AP5Z1 C>T	7	4820928	4820928	C	T	AP5Z1	c.164C>T	NM_014855.3	NP_055670.1:p.(Thr55Met)	NC_000007.13:g.4820928C>T	VUS	1 lab	54b6b94164
2:85768369 MAT2A T>A	2	85768369	85768369	T	A	MAT2A	c.170-9T>A	NM_005911.5	NP_005902.1:p.?	NC_000002.11:g.85768369T>A	VUS	1 lab	54b7333a3d
10:112581330 RBM20 C>T	10	112581330	112581330	C	T	RBM20	c.2953C>T	NM_001134363.1	NP_001127835.1:p.(Pro985Ser)	NC_000010.10:g.112581330C>T	(Likely) benign	1 lab	54b804c68a
3:38357847 SLC22A14 C>T	3	38357847	38357847	C	T	SLC22A14	c.1565C>T	NM_004803.4	NP_004794.2:p.(Ser522Leu)	NC_000003.11:g.38357847C>T	(Likely) benign	1 lab	54b8aec066
20:55021046 CASS4 G>A	20	55021046	55021046	G	A	CASS4	c.550G>A	NM_001164116.1	NP_001157588.1:p.(Val184Met)	NC_000020.10:g.55021046G>A	(Likely) benign	1 lab	54b9ac253b
3:75986686 ROBO2 A>G	3	75986686	75986686	A	G	ROBO2	c.42A>G	NM_001128929.3	NP_001122401.1:p.(Thr14=)	NC_000003.11:g.75986686A>G	(Likely) benign	1 lab	f1404106b7
1:228529898 OBSCN C>T	1	228529898	228529898	C	T	OBSCN	c.20984C>T	NM_001271223.2	NP_001258152.2:p.(Thr6995Met)	NC_000001.10:g.228529898C>T	VUS	1 lab	54bbfeeb5f
17:526814 VPS53 C>G	17	526814	526814	C	G	VPS53	c.1075G>C	NM_001128159.2	NP_001121631.1:p.(Ala359Pro)	NC_000017.10:g.526814C>G	VUS	1 lab	54bf1c1d20
16:67919722 NRN1L C>A	16	67919722	67919722	C	A	NRN1L	c.177C>A	NM_198443.2	NP_940845.1:p.(Ser59Arg)	NC_000016.9:g.67919722C>A	VUS	1 lab	54bf8a909d
19:6718135 C3 G>C	19	6718135	6718135	G	C	C3	c.474C>G	NM_000064.2	NP_000055.2:p.(Pro158=)	NC_000019.9:g.6718135G>C	VUS	1 lab	54bfbc811f
12:6623760 NCAPD2 C>T	12	6623760	6623760	C	T	NCAPD2	c.839+7C>T	NM_014865.4	NP_055680.3:p.?	NC_000012.11:g.6623760C>T	(Likely) benign	1 lab	54c07df5de
19:50902633 POLD1 G>A	19	50902633	50902633	G	A	POLD1	c.208G>A	NM_001308632.1	NP_001295561.1:p.(Val70Ile)	NC_000019.9:g.50902633G>A	(Likely) benign	1 lab	54c1a92266
6:43589398 GTPBP2 C>T	6	43589398	43589398	C	T	GTPBP2	c.1762G>A	NM_019096.5	NP_061969.3:p.(Val588Ile)	NC_000006.11:g.43589398C>T	VUS	1 lab	54c224c00b
21:34443079 OLIG1 G>A	21	34443079	34443079	G	A	OLIG1	c.527G>A	NM_138983.3	NP_620450.2:p.(Gly176Asp)	NC_000021.8:g.34443079G>A	VUS	1 lab	54c5026cea
1:156105797 LMNA A>C	1	156105797	156105797	A	C	LMNA				NC_000001.10:g.156105797A>C	VUS	1 lab	54c516d02f
16:227258 HBA1 C>G	16	227258	227258	C	G	HBA1	c.301-24C>G	NM_000558.5	NP_000549.1:p.?	NC_000016.9:g.227258C>G	(Likely) benign	1 lab	54c5f109e4
2:238419397 MLPH G>A	2	238419397	238419397	G	A	MLPH	c.291G>A	NM_024101.5	NP_077006.1:p.(Pro97=)	NC_000002.11:g.238419397G>A	(Likely) benign	1 lab	54c6950dc9
11:88911787 TYR C>T	11	88911787	88911787	C	T	TYR	c.666C>T	NM_000372.4	NP_000363.1:p.(Ile222=)	NC_000011.9:g.88911787C>T	(Likely) benign	1 lab	54c74358a1
11:64367853 SLC22A12 C>T	11	64367853	64367853	C	T	SLC22A12	c.1300C>T	NM_144585.3	NP_653186.2:p.(Arg434Cys)	NC_000011.9:g.64367853C>T	VUS	1 lab	54c85d974e
X:3235152 MXRA5 C>A	X	3235152	3235152	C	A	MXRA5	c.6570G>T	NM_015419.3	NP_056234.2:p.(Ala2190=)	NC_000023.10:g.3235152C>A	(Likely) benign	1 lab	54c8e6f567
19:1114348 SBNO2 G>A	19	1114348	1114348	G	A	SBNO2	c.1959C>T	NM_014963.3	NP_055778.2:p.(Asp653=)	NC_000019.9:g.1114348G>A	(Likely) benign	1 lab	54c95cb223
15:43816404 MAP1A C>A	15	43816404	43816404	C	A	MAP1A	c.2733C>A	NM_002373.6	NP_002364.5:p.(Pro911=)	NC_000015.9:g.43816404C>A	VUS	1 lab	54ca41ec63
8:32621386 NRG1 G>A	8	32621386	32621386	G	A	NRG1	c.1404G>A	NM_013956.4	NP_039250.2:p.(Met468Ile)	NC_000008.10:g.32621386G>A	VUS	1 lab	54cbbef7d1
2:166172209 SCN2A C>T	2	166172209	166172209	C	T	SCN2A	c.1612C>T	NM_021007.2	NP_066287.2:p.(Arg538Cys)	NC_000002.11:g.166172209C>T	VUS	1 lab	54cbe21f96
X:48462759 WDR13 C>T	X	48462759	48462759	C	T	WDR13	c.1254C>T	NM_001347217.2	NP_001334146.1:p.(Phe418=)	NC_000023.10:g.48462759C>T	(Likely) benign	1 lab	54ce356716
1:2235815 SKI G>A	1	2235815	2235815	G	A	SKI	c.1558G>A	NM_003036.4	NP_003027.1:p.(Ala520Thr)	NC_000001.10:g.2235815G>A	VUS	1 lab	f1450d98c8
1:152284707 FLG C>T	1	152284707	152284707	C	T	FLG	c.2655G>A	NM_002016.1	NP_002007.1:p.(Gly885=)	NC_000001.10:g.152284707C>T	(Likely) benign	1 lab	54d0bc9295
5:1210668 SLC6A19 C>T	5	1210668	1210668	C	T	SLC6A19	c.453C>T	NM_001003841.2	NP_001003841.1:p.(Ser151=)	NC_000005.9:g.1210668C>T	(Likely) benign	1 lab	54d2a6bd6b
X:70823692 GCNA C>T	X	70823692	70823692	C	T	GCNA	c.565C>T	NM_052957.4	NP_443189.1:p.(Pro189Ser)	NC_000023.10:g.70823692C>T	(Likely) benign	1 lab	54d5f984ca
3:38047428 VILL T>C	3	38047428	38047428	T	C	VILL	c.2096T>C	NM_015873.3	NP_056957.3:p.(Ile699Thr)	NC_000003.11:g.38047428T>C	(Likely) benign	1 lab	54d6938a33
13:114535404 GAS6 G>A	13	114535404	114535404	G	A	GAS6	c.1011C>T	NM_000820.3	NP_000811.1:p.(Ala337=)	NC_000013.10:g.114535404G>A	(Likely) benign	1 lab	54d791d278
16:78466622 WWOX C>G	16	78466622	78466622	C	G	WWOX	c.1029C>G	NM_016373.3	NP_057457.1:p.(Thr343=)	NC_000016.9:g.78466622C>G	(Likely) benign	1 lab	54d83ab734
X:122758388 THOC2 A>C	X	122758388	122758388	A	C	THOC2	c.3186+4T>G	NM_001081550.1	NP_001075019.1:p.?	NC_000023.10:g.122758388A>C	(Likely) benign	1 lab	54d8771ba8
17:7452538 TNFSF12 C>T	17	7452538	7452538	C	T	TNFSF12	c.68C>T	NM_003809.3	NP_003800.1:p.(Pro23Leu)	NC_000017.10:g.7452538C>T	(Likely) benign	1 lab	54da018190
X:12736324 FRMPD4 G>A	X	12736324	12736324	G	A	FRMPD4	c.3379G>A	NM_014728.3	NP_055543.2:p.(Glu1127Lys)	NC_000023.10:g.12736324G>A	(Likely) benign	1 lab	54dbc94e99
2:26739428 OTOF C>T	2	26739428	26739428	C	T	OTOF	c.367G>A	NM_194248.2	NP_919224.1:p.(Gly123Ser)	NC_000002.11:g.26739428C>T	(Likely) benign	1 lab	54dc190432
20:32379125 ZNF341 C>T	20	32379125	32379125	C	T	ZNF341	c.2367C>T	NM_001282933.1	NP_001269862.1:p.(Pro789=)	NC_000020.10:g.32379125C>T	(Likely) benign	1 lab	54dc2cfd9e
5:149513225 PDGFRB C>T	5	149513225	149513225	C	T	PDGFRB	c.858G>A	NM_002609.3	NP_002600.1:p.(Ser286=)	NC_000005.9:g.149513225C>T	(Likely) benign	1 lab	54de6e1d43
17:7909732 GUCY2D G>A	17	7909732	7909732	G	A	GUCY2D	c.1078G>A	NM_000180.3	NP_000171.1:p.(Gly360Ser)	NC_000017.10:g.7909732G>A	(Likely) benign	1 lab	54e2026271
1:152281752 FLG A>G	1	152281752	152281752	A	G	FLG	c.5610T>C	NM_002016.2	NP_002007.1:p.(Asn1870=)	NC_000001.10:g.152281752A>G	(Likely) benign	1 lab	f146d7500e
18:32459539 DTNA A>G	18	32459539	32459539	A	G	DTNA	c.1937A>G	NM_001390.4	NP_001381.2:p.(Asn646Ser)	NC_000018.9:g.32459539A>G	(Likely) benign	1 lab	54e535efb1
X:2795286 GYG2 G>C	X	2795286	2795286	G	C	GYG2	c.1282G>C	NM_003918.2	NP_003909.2:p.(Glu428Gln)	NC_000023.10:g.2795286G>C	(Likely) benign	1 lab	54e6e63b44
1:152285463 FLG G>A	1	152285463	152285463	G	A	FLG	c.1899C>T	NM_002016.1	NP_002007.1:p.(Asp633=)	NC_000001.10:g.152285463G>A	(Likely) benign	1 lab	54e794f0e3
1:22165894 HSPG2 C>T	1	22165894	22165894	C	T	HSPG2	c.9862G>A	NM_001291860.1	NP_001278789.1:p.(Ala3288Thr)	NC_000001.10:g.22165894C>T	VUS	1 lab	54e8bfade8
2:15607887 NBAS T>A	2	15607887	15607887	T	A	NBAS	c.1919A>T	NM_015909.3	NP_056993.2:p.(Tyr640Phe)	NC_000002.11:g.15607887T>A	VUS	1 lab	54e9b47aee
X:142717283 SLITRK4 TCTC>T	X	142717283	142717287	TCTC	T	SLITRK4	c.1639_1641del	NM_001184749.3	NP_001171678.1:p.(Glu547del)	NC_000023.10:g.142717285_142717287del	(Likely) benign	1 lab	54eabddea2
1:227073410 PSEN2 G>C	1	227073410	227073410	G	C	PSEN2	c.498+30G>C	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227073410G>C	(Likely) benign	1 lab	54eb183aa8
19:4543920 SEMA6B A>C	19	4543920	4543920	A	C	SEMA6B	c.2360T>G	NM_032108.4	NP_115484.2:p.(Phe787Cys)	NC_000019.9:g.4543920A>C	VUS	1 lab	54eb27a448
19:18979867 GDF1 G>T	19	18979867	18979867	G	T	GDF1	c.658C>A	NM_001492.6	NP_001483.3:p.(Arg220Ser)	NC_000019.9:g.18979867G>T	VUS	1 lab	f148451acb
10:92678738 ANKRD1 AAAAT>A	10	92678738	92678751	AAAAT	A	ANKRD1	c.346-13_346-10del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678748_92678751del	(Likely) benign	1 lab	f148b23af3
7:42018212 GLI3 G>T	7	42018212	42018212	G	T	GLI3	c.1633C>A	NM_000168.5	NP_000159.3:p.(Pro545Thr)	NC_000007.13:g.42018212G>T	VUS	1 lab	54f1ad232a
7:27237849 HOXA13 T>C	7	27237849	27237849	T	C	HOXA13	c.1135A>G	NM_000522.5	NP_000513.2:p.(Lys379Glu)	NC_000007.13:g.27237849T>C	VUS	1 lab	54f1fad6ea
6:65301020 EYS G>C	6	65301020	65301020	G	C	EYS	c.4740C>G	NM_001292009.1	NP_001278938.1:p.(Ser1580=)	NC_000006.11:g.65301020G>C	(Likely) benign	1 lab	54f1fb0f4a
5:178413950 GRM6 G>A	5	178413950	178413950	G	A	GRM6	c.1389C>T	NM_000843.4	NP_000834.2:p.(Asn463=)	NC_000005.9:g.178413950G>A	(Likely) benign	1 lab	54f3588dd9
8:94935185 PDP1 G>A	8	94935185	94935185	G	A	PDP1	c.973G>A	NM_001161779.1	NP_001155251.1:p.(Glu325Lys)	NC_000008.10:g.94935185G>A	VUS	1 lab	54f4383641
19:50758531 MYH14 C>A	19	50758531	50758531	C	A	MYH14	c.2000C>A	NM_001145809.1	NP_001139281.1:p.(Pro667Gln)	NC_000019.9:g.50758531C>A	(Likely) benign	1 lab	54f497e9e7
17:48263673 COL1A1 C>T	17	48263673	48263673	C	T	COL1A1	c.4005+5G>A	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48263673C>T	VUS	1 lab	54f628a2fb
2:152440064 NEB C>T	2	152440064	152440064	C	T	NEB	c.15880G>A	NM_001271208.1	NP_001258137.1:p.(Asp5294Asn)	NC_000002.11:g.152440064C>T	VUS	1 lab	54f893c7d2
3:143214222 SLC9A9 C>T	3	143214222	143214222	C	T	SLC9A9	c.1158G>A	NM_173653.3	NP_775924.1:p.(Thr386=)	NC_000003.11:g.143214222C>T	(Likely) benign	1 lab	54fa61d096
6:65327409 EYS A>G	6	65327409	65327409	A	G	EYS	c.3586T>C	NM_001292009.1	NP_001278938.1:p.(Cys1196Arg)	NC_000006.11:g.65327409A>G	VUS	1 lab	54fb209310
3:191178963 PYDC2 T>G	3	191178963	191178963	T	G	PYDC2	c.12T>G	NM_001083308.1	NP_001076777.1:p.(Ser4=)	NC_000003.11:g.191178963T>G	(Likely) benign	1 lab	54fc203d3b
18:60036567 TNFRSF11A G>A	18	60036567	60036567	G	A	TNFRSF11A	c.1375G>A	NM_001278268.1	NP_001265197.1:p.(Ala459Thr)	NC_000018.9:g.60036567G>A	(Likely) benign	1 lab	54fca49f2d
8:10466771 RP1L1 G>T	8	10466771	10466771	G	T	RP1L1	c.4837C>A	NM_178857.5	NP_849188.4:p.(Leu1613Met)	NC_000008.10:g.10466771G>T	(Likely) benign	1 lab	54fdd48c1f
20:44523733 CTSA T>C	20	44523733	44523733	T	C	CTSA	c.1049T>C	NM_001127695.2	NP_001121167.1:p.(Leu350Pro)	NC_000020.10:g.44523733T>C	VUS	1 lab	550091cdf7
6:102266326 GRIK2 T>A	6	102266326	102266326	T	A	GRIK2	c.1285T>A	NM_021956.5	NP_068775.1:p.(Ser429Thr)	NC_000006.11:g.102266326T>A	VUS	1 lab	f1495e5339
9:34648333 GALT A>G	9	34648333	34648333	A	G	GALT	c.567A>G	NM_000155.3	NP_000146.2:p.(Val189=)	NC_000009.11:g.34648333A>G	(Likely) benign	1 lab	5501360ad5
X:148627335 EOLA1 G>T	X	148627335	148627335	G	T	EOLA1	c.159G>T	NM_001324276.1	NP_001311205.1:p.(Trp53Cys)	NC_000023.10:g.148627335G>T	VUS	1 lab	5503bc5777
2:131355106 CFC1 C>T	2	131355106	131355106	C	T	CFC1	c.433G>A	NM_032545.3	NP_115934.1:p.(Ala145Thr)	NC_000002.11:g.131355106C>T	(Likely) benign	1 lab	5504212d15
17:76565265 DNAH17 G>A	17	76565265	76565265	G	A	DNAH17	c.1267C>T	NM_173628.3	NP_775899.3:p.(Arg423Cys)	NC_000017.10:g.76565265G>A	VUS	1 lab	55075d9b69
3:133673889 SLCO2A1 G>A	3	133673889	133673889	G	A	SLCO2A1	c.546C>T	NM_005630.2	NP_005621.2:p.(Ile182=)	NC_000003.11:g.133673889G>A	(Likely) benign	1 lab	5507c7088d
X:19713149 SH3KBP1 C>G	X	19713149	19713149	C	G	SH3KBP1	c.364G>C	NM_001353895.1	NP_001340824.1:p.(Ala122Pro)	NC_000023.10:g.19713149C>G	(Likely) benign	1 lab	550903ca7e
12:53045642 KRT2 A>G	12	53045642	53045642	A	G	KRT2	c.285T>C	NM_000423.2	NP_000414.2:p.(Gly95=)	NC_000012.11:g.53045642A>G	(Likely) benign	1 lab	550b4f121d
14:105416261 AHNAK2 C>G	14	105416261	105416261	C	G	AHNAK2	c.5527G>C	NM_138420.3	NP_612429.2:p.(Glu1843Gln)	NC_000014.8:g.105416261C>G	(Likely) benign	1 lab	550da66ee0
7:100645245 MUC12 T>C	7	100645245	100645245	T	C	MUC12	c.11401T>C	NM_001164462.1	NP_001157934.1:p.(Tyr3801His)	NC_000007.13:g.100645245T>C	VUS	1 lab	550dd95f23
1:151105852 SEMA6C C>T	1	151105852	151105852	C	T	SEMA6C	c.1997G>A	NM_001178061.1	NP_001171532.1:p.(Arg666Gln)	NC_000001.10:g.151105852C>T	(Likely) benign	1 lab	5510473281
3:186938053 MASP1 G>C	3	186938053	186938053	G	C	MASP1	c.1910-4C>G	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.186938053G>C	(Likely) benign	1 lab	55106cac4d
18:21333676 LAMA3 G>C	18	21333676	21333676	G	C	LAMA3	c.856-9G>C	NM_198129.2	NP_937762.2:p.?	NC_000018.9:g.21333676G>C	(Likely) benign	1 lab	5511ce049d
16:57690434 ADGRG1 C>G	16	57690434	57690434	C	G	ADGRG1	c.1072C>G	NM_005682.6	NP_005673.3:p.(Pro358Ala)	NC_000016.9:g.57690434C>G	VUS	1 lab	5511e4045a
11:17579782 OTOG G>A	11	17579782	17579782	G	A	OTOG	c.952G>A	NM_001277269.1	NP_001264198.1:p.(Ala318Thr)	NC_000011.9:g.17579782G>A	VUS	1 lab	5512fdbe11
12:46285585 ARID2 G>C	12	46285585	46285585	G	C	ARID2	c.4945G>C	NM_152641.3	NP_689854.2:p.(Val1649Leu)	NC_000012.11:g.46285585G>C	(Likely) benign	1 lab	551418eb01
1:244999023 COX20 G>T	1	244999023	244999023	G	T	COX20	c.7G>T	NM_001312872.1	NP_001299801.1:p.(Ala3Ser)	NC_000001.10:g.244999023G>T	(Likely) benign	1 lab	5516232fe5
16:50744844 NOD2 A>C	16	50744844	50744844	A	C	NOD2	c.1022A>C	NM_022162.1	NP_071445.1:p.(Lys341Thr)	NC_000016.9:g.50744844A>C	VUS	1 lab	55166c8d54
15:57896482 MYZAP C>A	15	57896482	57896482	C	A	MYZAP	c.91C>A	NM_001018100.5	NP_001018110.1:p.(Leu31Ile)	NC_000015.9:g.57896482C>A	VUS	1 lab	f1524cd7ce
4:126402849 FAT4 G>A	4	126402849	126402849	G	A	FAT4	c.12778G>A	NM_001291303.1	NP_001278232.1:p.(Val4260Ile)	NC_000004.11:g.126402849G>A	(Likely) benign	1 lab	551896082b
2:170134459 LRP2 T>C	2	170134459	170134459	T	C	LRP2	c.1568A>G	NM_004525.3	NP_004516.2:p.(Tyr523Cys)	NC_000002.11:g.170134459T>C	VUS	1 lab	551a199904
11:105775933 GRIA4 A>C	11	105775933	105775933	A	C	GRIA4	c.1064A>C	NM_001077243.2	NP_001070711.2:p.(Gln355Pro)	NC_000011.9:g.105775933A>C	VUS	1 lab	551ab40de5
17:29667507 NF1 A>G	17	29667507	29667507	A	G	NF1	c.6859-16A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29667507A>G	(Likely) benign	1 lab	551afaa3ca
19:51171675 SHANK1 G>A	19	51171675	51171675	G	A	SHANK1	c.3542C>T	NM_016148.4	NP_057232.2:p.(Pro1181Leu)	NC_000019.9:g.51171675G>A	(Likely) benign	1 lab	551b2c222a
6:7565671 DSP T>A	6	7565671	7565671	T	A	DSP	c.857T>A	NM_004415.2	NP_004406.2:p.(Ile286Asn)	NC_000006.11:g.7565671T>A	VUS	1 lab	551c09293b
X:70514175 NONO C>T	X	70514175	70514175	C	T	NONO	c.447C>T	NM_001145408.1	NP_001138880.1:p.(Ser149=)	NC_000023.10:g.70514175C>T	(Likely) benign	1 lab	551c438135
15:43508485 EPB42 C>T	15	43508485	43508485	C	T	EPB42	c.177G>A	NM_001114134.1	NP_001107606.1:p.(Val59=)	NC_000015.9:g.43508485C>T	VUS	1 lab	551ce3c6e6
X:41012307 USP9X A>G	X	41012307	41012307	A	G	USP9X	c.1870A>G	NM_001039590.3	NP_001034679.2:p.(Met624Val)	NC_000023.10:g.41012307A>G	VUS	1 lab	f15272b340
11:3022350 CARS1 G>T	11	3022350	3022350	G	T	CARS1	c.2490C>A	NM_001014437.2	NP_001014437.1:p.(Phe830Leu)	NC_000011.9:g.3022350G>T	(Likely) benign	1 lab	551e0fc07c
11:77916962 USP35 G>T	11	77916962	77916962	G	T	USP35	c.1272G>T	NM_020798.4	NP_065849.1:p.(Glu424Asp)	NC_000011.9:g.77916962G>T	(Likely) benign	1 lab	551e472561
16:72130145 DHX38 A>G	16	72130145	72130145	A	G	DHX38	c.89A>G	NM_014003.3	NP_054722.2:p.(Lys30Arg)	NC_000016.9:g.72130145A>G	VUS	1 lab	551f4334af
10:82034329 MAT1A C>T	10	82034329	82034329	C	T	MAT1A	c.1032G>A	NM_000429.2	NP_000420.1:p.(Glu344=)	NC_000010.10:g.82034329C>T	(Likely) benign	1 lab	551ffdd84b
16:2152787 PKD1 C>A	16	2152787	2152787	C	A	PKD1	c.8948+28G>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2152787C>A	VUS	1 lab	f17a65ad7f
11:6644585 DCHS1 G>A	11	6644585	6644585	G	A	DCHS1				NC_000011.9:g.6644585G>A	(Likely) benign	1 lab	5522946978
3:49161697 LAMB2 C>T	3	49161697	49161697	C	T	LAMB2	c.3350G>A	NM_002292.3	NP_002283.3:p.(Arg1117His)	NC_000003.11:g.49161697C>T	(Likely) benign	1 lab	5522ac62e9
14:104028259 BAG5 G>C	14	104028259	104028259	G	C	BAG5	c.86C>G	NM_001015049.2	NP_001015049.1:p.(Pro29Arg)	NC_000014.8:g.104028259G>C	(Likely) benign	1 lab	552735553c
X:46359781 ZNF674 A>T	X	46359781	46359781	A	T	ZNF674	c.1243T>A	NM_001039891.2	NP_001034980.1:p.(Cys415Ser)	NC_000023.10:g.46359781A>T	(Likely) benign	1 lab	5527599847
3:183963255 ALG3 C>A	3	183963255	183963255	C	A	ALG3	c.300+1G>T	NM_001006941.2	NP_001006942.1:p.?	NC_000003.11:g.183963255C>A	VUS	1 lab	5527fdcf0e
6:65098705 EYS G>A	6	65098705	65098705	G	A	EYS	c.5956C>T	NM_001292009.1	NP_001278938.1:p.(Leu1986=)	NC_000006.11:g.65098705G>A	(Likely) benign	1 lab	55295569c9
16:88800369 PIEZO1 G>A	16	88800369	88800369	G	A	PIEZO1	c.2274C>T	NM_001142864.4	NP_001136336.2:p.(Ser758=)	NC_000016.9:g.88800369G>A	(Likely) benign	1 lab	552988e104
1:158612266 SPTA1 C>T	1	158612266	158612266	C	T	SPTA1	c.4672G>A	NM_003126.3	NP_003117.2:p.(Val1558Ile)	NC_000001.10:g.158612266C>T	(Likely) benign	1 lab	552a91ce57
4:5798824 EVC C>T	4	5798824	5798824	C	T	EVC	c.1962C>T	NM_153717.2	NP_714928.1:p.(Asn654=)	NC_000004.11:g.5798824C>T	(Likely) benign	1 lab	552ba09525
2:197157282 HECW2 G>A	2	197157282	197157282	G	A	HECW2	c.3000+7C>T	NM_020760.3	NP_065811.1:p.?	NC_000002.11:g.197157282G>A	(Likely) benign	1 lab	552dc43ce9
1:228432113 OBSCN T>A	1	228432113	228432113	T	A	OBSCN	c.3598T>A	NM_001271223.2	NP_001258152.2:p.(Tyr1200Asn)	NC_000001.10:g.228432113T>A	VUS	1 lab	552df4a234
X:9727456 GPR143 T>C	X	9727456	9727456	T	C	GPR143	c.371A>G	NM_000273.2	NP_000264.2:p.(Gln124Arg)	NC_000023.10:g.9727456T>C	(Likely) benign	1 lab	552e291e50
8:67547031 VCPIP1 C>T	8	67547031	67547031	C	T	VCPIP1	c.3374G>A	NM_025054.5	NP_079330.2:p.(Arg1125Gln)	NC_000008.10:g.67547031C>T	VUS	1 lab	552fba9b06
4:187195429 F11 G>A	4	187195429	187195429	G	A	F11	c.485G>A	NM_000128.3	NP_000119.1:p.(Arg162His)	NC_000004.11:g.187195429G>A	VUS	1 lab	55305d5327
8:144999539 PLEC G>A	8	144999539	144999539	G	A	PLEC	c.4969C>T	NM_201380.3	NP_958782.1:p.(Arg1657Cys)	NC_000008.10:g.144999539G>A	VUS	1 lab	5530b55d9f
22:46930670 CELSR1 C>T	22	46930670	46930670	C	T	CELSR1	c.2398G>A	NM_014246.4	NP_055061.1:p.(Glu800Lys)	NC_000022.10:g.46930670C>T	VUS	1 lab	f15e1cf37f
19:45996512 RTN2 A>AG	19	45996512	45996519	A	AG	RTN2	c.938dup	NM_005619.4	NP_005610.1:p.(Thr314TyrfsTer31)	NC_000019.9:g.45996519dup	VUS	1 lab	5532259075
8:32621512 NRG1 C>T	8	32621512	32621512	C	T	NRG1	c.1530C>T	NM_013956.4	NP_039250.2:p.(Pro510=)	NC_000008.10:g.32621512C>T	(Likely) benign	1 lab	55345267da
2:179460273 TTN C>G	2	179460273	179460273	C	G	TTN	c.57808G>C	NM_001267550.1	NP_001254479.1:p.(Val19270Leu)	NC_000002.11:g.179460273C>G	VUS	1 lab	55353f070d
10:97387250 ALDH18A1 T>C	10	97387250	97387250	T	C	ALDH18A1	c.1027A>G	NM_001323413.1	NP_001310342.1:p.(Ile343Val)	NC_000010.10:g.97387250T>C	(Likely) benign	1 lab	553633a7db
6:43270008 SLC22A7 A>G	6	43270008	43270008	A	G	SLC22A7	c.1132A>G	NM_153320.2	NP_696961.2:p.(Thr378Ala)	NC_000006.11:g.43270008A>G	VUS	1 lab	5536595279
12:121018969 POP5 C>A	12	121018969	121018969	C	A	POP5	c.112G>T	NM_015918.3	NP_057002.2:p.(Ala38Ser)	NC_000012.11:g.121018969C>A	VUS	1 lab	55367a958b
X:41333231 NYX G>C	X	41333231	41333231	G	C	NYX	c.525G>C	NM_022567.2	NP_072089.1:p.(Pro175=)	NC_000023.10:g.41333231G>C	(Likely) benign	1 lab	5536b8c1a2
7:94038721 COL1A2 G>T	7	94038721	94038721	G	T	COL1A2	c.880G>T	NM_000089.3	NP_000080.2:p.(Val294Phe)	NC_000007.13:g.94038721G>T	VUS	1 lab	553740fecd
2:128047346 ERCC3 G>A	2	128047346	128047346	G	A	ERCC3	c.384C>T	NM_001303418.1	NP_001290347.1:p.(Pro128=)	NC_000002.11:g.128047346G>A	(Likely) benign	1 lab	553981602a
17:7749816 KDM6B G>C	17	7749816	7749816	G	C	KDM6B	c.549+6G>C	NM_001080424.2	NP_001073893.1:p.?	NC_000017.10:g.7749816G>C	(Likely) benign	1 lab	553c325a00
1:1455652 ATAD3A G>T	1	1455652	1455652	G	T	ATAD3A	c.790G>T	NM_018188.4	NP_060658.3:p.(Ala264Ser)	NC_000001.10:g.1455652G>T	(Likely) benign	1 lab	553d00e74f
5:82833216 VCAN T>C	5	82833216	82833216	T	C	VCAN	c.4394T>C	NM_004385.4	NP_004376.2:p.(Val1465Ala)	NC_000005.9:g.82833216T>C	(Likely) benign	1 lab	553f18c4a4
9:20981542 FOCAD C>T	9	20981542	20981542	C	T	FOCAD	c.4495C>T	NM_017794.4	NP_060264.4:p.(Pro1499Ser)	NC_000009.11:g.20981542C>T	(Likely) benign	1 lab	55401fbeec
17:29509525 NF1 G>C	17	29509525	29509525	G	C	NF1	c.731-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509525G>C	(Likely) pathogenic	1 lab	55411d9ff1
3:148897393 CP C>T	3	148897393	148897393	C	T	CP	c.2611G>A	NM_000096.3	NP_000087.1:p.(Asp871Asn)	NC_000003.11:g.148897393C>T	VUS	1 lab	554170a619
9:446455 DOCK8 A>C	9	446455	446455	A	C	DOCK8	c.5666A>C	NM_203447.3	NP_982272.2:p.(Asn1889Thr)	NC_000009.11:g.446455A>C	VUS	1 lab	5542140bcb
X:153137641 L1CAM G>A	X	153137641	153137641	G	A	L1CAM	c.366C>T	NM_001278116.1	NP_001265045.1:p.(Thr122=)	NC_000023.10:g.153137641G>A	(Likely) benign	1 lab	5542495253
1:196967386 CFHR5 C>T	1	196967386	196967386	C	T	CFHR5	c.1099C>T	NM_030787.3	NP_110414.1:p.(His367Tyr)	NC_000001.10:g.196967386C>T	VUS	1 lab	5543a965de
3:58109287 FLNB G>A	3	58109287	58109287	G	A	FLNB	c.3594G>A	NM_001164317.1	NP_001157789.1:p.(Thr1198=)	NC_000003.11:g.58109287G>A	(Likely) benign	1 lab	554694495f
19:39038919 RYR1 C>A	19	39038919	39038919	C	A	RYR1	c.12141C>A	NM_000540.2	NP_000531.2:p.(Leu4047=)	NC_000019.9:g.39038919C>A	(Likely) benign	1 lab	554832202e
4:128590308 INTU A>C	4	128590308	128590308	A	C	INTU	c.1090A>C	NM_015693.4	NP_056508.2:p.(Ser364Arg)	NC_000004.11:g.128590308A>C	VUS	1 lab	554888b647
6:111912471 TRAF3IP2 G>C	6	111912471	111912471	G	C	TRAF3IP2	c.819C>G	NM_147686.4	NP_679211.2:p.(His273Gln)	NC_000006.11:g.111912471G>C	(Likely) benign	1 lab	55489f67e7
19:17886295 FCHO1 A>T	19	17886295	17886295	A	T	FCHO1	c.976A>T	NM_015122.3	NP_055937.1:p.(Thr326Ser)	NC_000019.9:g.17886295A>T	VUS	1 lab	f15f72fbcd
19:18980132 GDF1 G>T	19	18980132	18980132	G	T	GDF1	c.393C>A	NM_001492.6	NP_001483.3:p.(Phe131Leu)	NC_000019.9:g.18980132G>T	VUS	1 lab	f4964cd683
16:71022326 HYDIN C>T	16	71022326	71022326	C	T	HYDIN	c.3954G>A	NM_001270974.2	NP_001257903.1:p.(Gln1318=)	NC_000016.9:g.71022326C>T	(Likely) benign	1 lab	554922c2af
16:81164105 MISSING G>A	16	81164105	81164105	G	A	MISSING				NC_000016.9:g.81164105G>A	VUS	1 lab	554a1baa62
16:21286897 CRYM T>C	16	21286897	21286897	T	C	CRYM	c.343A>G	NM_001888.4	NP_001879.1:p.(Ile115Val)	NC_000016.9:g.21286897T>C	(Likely) benign	1 lab	554af529ee
1:242030258 EXO1 T>C	1	242030258	242030258	T	C	EXO1	c.1168T>C	NM_130398.3	NP_569082.2:p.(Leu390=)	NC_000001.10:g.242030258T>C	(Likely) benign	1 lab	554b2169cb
11:31312325 DCDC1 T>C	11	31312325	31312325	T	C	DCDC1	c.829A>G	NM_001367979.1	NP_001354908.1:p.(Lys277Glu)	NC_000011.9:g.31312325T>C	VUS	1 lab	554b6e5e1a
1:27480484 SLC9A1 G>A	1	27480484	27480484	G	A	SLC9A1	c.342C>T	NM_003047.4	NP_003038.2:p.(Leu114=)	NC_000001.10:g.27480484G>A	(Likely) benign	1 lab	554be23ab5
6:44278124 AARS2 C>T	6	44278124	44278124	C	T	AARS2	c.806G>A	NM_020745.3	NP_065796.1:p.(Gly269Asp)	NC_000006.11:g.44278124C>T	VUS	1 lab	554d471bfa
6:70981789 COL9A1 G>A	6	70981789	70981789	G	A	COL9A1	c.1068C>T	NM_001851.4	NP_001842.3:p.(Gly356=)	NC_000006.11:g.70981789G>A	(Likely) benign	1 lab	554df84d4d
6:36172436 BRPF3 T>C	6	36172436	36172436	T	C	BRPF3	c.1450T>C	NM_015695.3	NP_056510.2:p.(Leu484=)	NC_000006.11:g.36172436T>C	(Likely) benign	1 lab	55524957f2
14:39530973 SEC23A T>C	14	39530973	39530973	T	C	SEC23A	c.1501A>G	NM_006364.3	NP_006355.2:p.(Arg501Gly)	NC_000014.8:g.39530973T>C	VUS	1 lab	55528c5b1d
X:10096106 WWC3 A>C	X	10096106	10096106	A	C	WWC3	c.2185A>C	NM_015691.3	NP_056506.2:p.(Thr729Pro)	NC_000023.10:g.10096106A>C	(Likely) benign	1 lab	55529c1d3a
8:104897928 RIMS2 G>A	8	104897928	104897928	G	A	RIMS2	c.1101G>A	NM_001100117.2	NP_001093587.1:p.(Arg367=)	NC_000008.10:g.104897928G>A	(Likely) benign	1 lab	555334c0c4
21:46945775 SLC19A1 T>C	21	46945775	46945775	T	C	SLC19A1	c.895A>G	NM_001352510.1	NP_001339439.1:p.(Ile299Val)	NC_000021.8:g.46945775T>C	(Likely) benign	1 lab	5554d6f67a
10:16979586 CUBN C>T	10	16979586	16979586	C	T	CUBN	c.5926+5G>A	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16979586C>T	VUS	1 lab	555546d2d4
2:179577056 TTN T>C	2	179577056	179577056	T	C	TTN	c.27593A>G	NM_001267550.2	NP_001254479.2:p.(Gln9198Arg)	NC_000002.11:g.179577056T>C	VUS	1 lab	f1643c9ad5
11:65308020 LTBP3 G>C	11	65308020	65308020	G	C	LTBP3	c.3043C>G	NM_001130144.2	NP_001123616.1:p.(Pro1015Ala)	NC_000011.9:g.65308020G>C	VUS	1 lab	55585508e3
X:107978965 IRS4 G>T	X	107978965	107978965	G	T	IRS4	c.610C>A	NM_003604.2	NP_003595.1:p.(Arg204Ser)	NC_000023.10:g.107978965G>T	(Likely) benign	1 lab	555885cb0c
3:27763701 EOMES T>G	3	27763701	27763701	T	G	EOMES	c.85A>C	NM_001278182.1	NP_001265111.1:p.(Ser29Arg)	NC_000003.11:g.27763701T>G	(Likely) benign	1 lab	5558c861af
19:45868311 ERCC2 G>A	19	45868311	45868311	G	A	ERCC2	c.466C>T	NM_000400.3	NP_000391.1:p.(Arg156Ter)	NC_000019.9:g.45868311G>A	(Likely) pathogenic	1 lab	5558e6c839
4:88535442 DSPP G>A	4	88535442	88535442	G	A	DSPP	c.1628G>A	NM_014208.3	NP_055023.2:p.(Gly543Asp)	NC_000004.11:g.88535442G>A	VUS	1 lab	555a48981d
16:89350145 ANKRD11 C>A	16	89350145	89350145	C	A	ANKRD11	c.2805G>T	NM_001256182.1	NP_001243111.1:p.(Ser935=)	NC_000016.9:g.89350145C>A	(Likely) benign	1 lab	555be8c201
11:3040377 CARS1 G>A	11	3040377	3040377	G	A	CARS1	c.1387C>T	NM_001194997.1	NP_001181926.1:p.(Gln463Ter)	NC_000011.9:g.3040377G>A	(Likely) pathogenic	1 lab	555c9622bb
17:6373652 PITPNM3 G>A	17	6373652	6373652	G	A	PITPNM3	c.1701C>T	NM_031220.3	NP_112497.2:p.(Thr567=)	NC_000017.10:g.6373652G>A	(Likely) benign	1 lab	555d3db055
9:140147725 STPG3 C>T	9	140147725	140147725	C	T	STPG3	c.971C>T	NM_001256699.1	NP_001243628.1:p.(Pro324Leu)	NC_000009.11:g.140147725C>T	VUS	1 lab	555d797f2a
2:3673657 COLEC11 G>A	2	3673657	3673657	G	A	COLEC11	c.168G>A	NM_199235.2	NP_954705.1:p.(Ser56=)	NC_000002.11:g.3673657G>A	(Likely) benign	1 lab	555e3da39c
2:179659709 TTN GGCA>TGCC	2	179659709	179659712	GGCA	TGCC	TTN	c.1182_1185inv	NM_001267550.1	NP_001254479.1:p.(Ala394_Ala395=)	NC_000002.11:g.179659709_179659712inv	VUS	1 lab	555e76907d
8:133816942 PHF20L1 C>G	8	133816942	133816942	C	G	PHF20L1	c.804C>G	NM_016018.4	NP_057102.4:p.(Gly268=)	NC_000008.10:g.133816942C>G	(Likely) benign	1 lab	555ef15ff5
20:60886503 LAMA5 TGGGCTTGCAG>T	20	60886503	60886515	TGGGCTTGCAG	T	LAMA5	c.9886_9895del	NM_005560.6	NP_005551.3:p.(Leu3296ArgfsTer87)	NC_000020.10:g.60886506_60886515del	VUS	1 lab	555f19db3d
1:237777999 RYR2 G>A	1	237777999	237777999	G	A	RYR2	c.5571G>A	NM_001035.2	NP_001026.2:p.(Pro1857=)	NC_000001.10:g.237777999G>A	(Likely) benign	1 lab	5560258cdb
X:107431194 COL4A6 T>C	X	107431194	107431194	T	C	COL4A6	c.1651A>G	NM_001287758.1	NP_001274687.1:p.(Thr551Ala)	NC_000023.10:g.107431194T>C	(Likely) benign	1 lab	556049eb19
17:29586102 NF1 G>C	17	29586102	29586102	G	C	NF1	c.4322G>C	NM_000267.3	NP_000258.1:p.(Arg1441Pro)	NC_000017.10:g.29586102G>C	VUS	1 lab	5560796e32
5:146258293 PPP2R2B T>A	5	146258293	146258293	T	A	PPP2R2B	c.55A>T	NM_181675.3	NP_858061.2:p.(Ser19Cys)	NC_000005.9:g.146258293T>A	VUS	1 lab	5560fffbe3
22:32234745 DEPDC5 G>T	22	32234745	32234745	G	T	DEPDC5	c.2429G>T	NM_001242896.2	NP_001229825.1:p.(Gly810Val)	NC_000022.10:g.32234745G>T	VUS	1 lab	5561731e07
2:170003304 LRP2 G>A	2	170003304	170003304	G	A	LRP2	c.12756C>T	NM_004525.3	NP_004516.2:p.(Asp4252=)	NC_000002.11:g.170003304G>A	(Likely) benign	1 lab	556229c041
2:63666871 WDPCP T>C	2	63666871	63666871	T	C	WDPCP	c.499+20A>G	NM_015910.6	NP_056994.3:p.?	NC_000002.11:g.63666871T>C	(Likely) benign	1 lab	5562dd6724
12:22066003 ABCC9 G>A	12	22066003	22066003	G	A	ABCC9	c.817-3C>T	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.22066003G>A	(Likely) benign	1 lab	55636c0ec2
2:36825023 FEZ2 T>C	2	36825023	36825023	T	C	FEZ2	c.263A>G	NM_001042548.1	NP_001036013.1:p.(Asp88Gly)	NC_000002.11:g.36825023T>C	VUS	1 lab	55641d5ead
1:47765758 STIL G>A	1	47765758	47765758	G	A	STIL	c.520C>T	NM_001048166.1	NP_001041631.1:p.(His174Tyr)	NC_000001.10:g.47765758G>A	VUS	1 lab	55642ab8be
2:71891411 DYSF A>G	2	71891411	71891411	A	G	DYSF	c.5014A>G	NM_001130981.1	NP_001124453.1:p.(Thr1672Ala)	NC_000002.11:g.71891411A>G	(Likely) benign	1 lab	55649f9f3f
3:129293254 PLXND1 C>T	3	129293254	129293254	C	T	PLXND1	c.2610G>A	NM_015103.2	NP_055918.2:p.(Met870Ile)	NC_000003.11:g.129293254C>T	(Likely) benign	1 lab	556a693603
17:29528472 NF1 T>C	17	29528472	29528472	T	C	NF1	c.1229T>C	NM_000267.3	NP_000258.1:p.(Leu410Pro)	NC_000017.10:g.29528472T>C	(Likely) pathogenic	1 lab	556ab13b4a
2:29295831 PCARE G>A	2	29295831	29295831	G	A	PCARE	c.1297C>T	NM_001029883.2	NP_001025054.1:p.(Pro433Ser)	NC_000002.11:g.29295831G>A	(Likely) benign	1 lab	556b9a4399
7:591096 PRKAR1B G>A	7	591096	591096	G	A	PRKAR1B	c.903C>T	NM_001164761.1	NP_001158233.1:p.(Ser301=)	NC_000007.13:g.591096G>A	(Likely) benign	1 lab	556c3ce400
13:52532614 ATP7B C>T	13	52532614	52532614	C	T	ATP7B	c.2188G>A	NM_000053.3	NP_000044.2:p.(Asp730Asn)	NC_000013.10:g.52532614C>T	VUS	1 lab	556e2c70f0
21:47838129 PCNT C>T	21	47838129	47838129	C	T	PCNT	c.6933C>T	NM_006031.5	NP_006022.3:p.(Val2311=)	NC_000021.8:g.47838129C>T	(Likely) benign	1 lab	5570368558
10:73556957 CDH23 G>A	10	73556957	73556957	G	A	CDH23	c.6809G>A	NM_022124.5	NP_071407.4:p.(Arg2270His)	NC_000010.10:g.73556957G>A	(Likely) benign	1 lab	55704fd933
X:47775584 ZNF81 C>A	X	47775584	47775584	C	A	ZNF81	c.1539C>A	NM_007137.3	NP_009068.2:p.(Leu513=)	NC_000023.10:g.47775584C>A	(Likely) benign	1 lab	5570dc1bb1
14:73659495 PSEN1 C>T	14	73659495	73659495	C	T	PSEN1	c.692C>T	NM_000021.3	NP_000012.1:p.(Ala231Val)	NC_000014.8:g.73659495C>T	(Likely) pathogenic	1 lab	55714228da
17:29587518 NF1 AT>A	17	29587518	29587519	AT	A	NF1	c.4563del	NM_001042492.3	NP_001035957.1:p.(Leu1522PhefsTer52)	NC_000017.10:g.29587519del	(Likely) pathogenic	1 lab	557332f0e5
19:1218495 STK11 A>T	19	1218495	1218495	A	T	STK11	c.370A>T	NM_000455.4	NP_000446.1:p.(Lys124Ter)	NC_000019.9:g.1218495A>T	(Likely) pathogenic	1 lab	5577468089
17:1629968 WDR81 A>G	17	1629968	1629968	A	G	WDR81	c.1715A>G	NM_001163809.1	NP_001157281.1:p.(His572Arg)	NC_000017.10:g.1629968A>G	VUS	1 lab	5577f8a60b
13:22246306 FGF9 C>A	13	22246306	22246306	C	A	FGF9	c.255C>A	NM_002010.2	NP_002001.1:p.(Thr85=)	NC_000013.10:g.22246306C>A	(Likely) benign	1 lab	5578168fe9
8:73939240 TERF1 T>G	8	73939240	73939240	T	G	TERF1	c.840T>G	NM_017489.2	NP_059523.2:p.(Gly280=)	NC_000008.10:g.73939240T>G	(Likely) benign	1 lab	557848c7ad
5:90004726 ADGRV1 G>C	5	90004726	90004726	G	C	ADGRV1	c.8824G>C	NM_032119.4	NP_115495.3:p.(Asp2942His)	NC_000005.9:g.90004726G>C	VUS	1 lab	557a4527cd
6:33169186 SLC39A7 A>G	6	33169186	33169186	A	G	SLC39A7	c.164A>G	NM_006979.3	NP_008910.2:p.(His55Arg)	NC_000006.11:g.33169186A>G	VUS	1 lab	557c151b08
11:34937926 PDHX C>G	11	34937926	34937926	C	G	PDHX	c.8C>G	NM_001135024.1	NP_001128496.1:p.(Ser3Ter)	NC_000011.9:g.34937926C>G	VUS	1 lab	557c7a94d9
4:79343072 FRAS1 G>A	4	79343072	79343072	G	A	FRAS1	c.4596G>A	NM_025074.7	NP_079350.5:p.(Glu1532=)	NC_000004.11:g.79343072G>A	(Likely) benign	1 lab	557ca0f103
9:135778100 TSC1 G>T	9	135778100	135778100	G	T	TSC1	c.2283C>A	NM_000368.4	NP_000359.1:p.(Tyr761Ter)	NC_000009.11:g.135778100G>T	(Likely) pathogenic	1 lab	557deb99a2
1:156821755 INSRR C>T	1	156821755	156821755	C	T	INSRR	c.866G>A	NM_014215.3	NP_055030.1:p.(Arg289His)	NC_000001.10:g.156821755C>T	(Likely) benign	1 lab	5580a10efc
18:44171981 LOXHD1 G>T	18	44171981	44171981	G	T	LOXHD1	c.1569C>A	NM_144612.6	NP_653213.6:p.(Asn523Lys)	NC_000018.9:g.44171981G>T	(Likely) benign	1 lab	558192a838
14:96807893 ATG2B G>GT	14	96807893	96807894	G	GT	ATG2B	c.889dup	NM_018036.6	NP_060506.5:p.(Thr297AsnfsTer6)	NC_000014.8:g.96807894dup	VUS	1 lab	55825119fc
1:53444040 SCP2 G>T	1	53444040	53444040	G	T	SCP2	c.825+1G>T	NM_002979.4	NP_002970.2:p.?	NC_000001.10:g.53444040G>T	(Likely) pathogenic	1 lab	558268411f
20:31024689 ASXL1 C>T	20	31024689	31024689	C	T	ASXL1	c.4174C>T	NM_015338.5	NP_056153.2:p.(Pro1392Ser)	NC_000020.10:g.31024689C>T	(Likely) benign	1 lab	55827f9320
2:238449137 MLPH G>A	2	238449137	238449137	G	A	MLPH	c.1251G>A	NM_024101.5	NP_077006.1:p.(Arg417=)	NC_000002.11:g.238449137G>A	(Likely) benign	1 lab	55830af324
5:150945358 FAT2 G>T	5	150945358	150945358	G	T	FAT2	c.3135C>A	NM_001447.2	NP_001438.1:p.(Ser1045Arg)	NC_000005.9:g.150945358G>T	VUS	1 lab	558331f637
10:49951270 WDFY4 C>T	10	49951270	49951270	C	T	WDFY4	c.2136C>T	NM_020945.1	NP_065996.1:p.(Ala712=)	NC_000010.10:g.49951270C>T	(Likely) benign	1 lab	55848f0ae9
X:130218978 ARHGAP36 C>T	X	130218978	130218978	C	T	ARHGAP36	c.895C>T	NM_144967.4	NP_659404.2:p.(Arg299Cys)	NC_000023.10:g.130218978C>T	VUS	1 lab	5588973b72
5:11397161 CTNND2 C>T	5	11397161	11397161	C	T	CTNND2	c.594G>A	NM_001332.3	NP_001323.1:p.(Thr198=)	NC_000005.9:g.11397161C>T	(Likely) benign	1 lab	558a7d8c2f
4:657564 PDE6B GAACATCTACCAGAACCTGAACC>G	4	657564	657586	GAACATCTACCAGAACCTGAACC	G	PDE6B	c.1927_1948del	NM_000283.4	NP_000274.3:p.(Asn643GlyfsTer7)	NC_000004.11:g.657565_657586del	(Likely) pathogenic	1 lab	558aff037f
2:27676347 IFT172 G>C	2	27676347	27676347	G	C	IFT172	c.3855C>G	NM_015662.2	NP_056477.1:p.(His1285Gln)	NC_000002.11:g.27676347G>C	(Likely) benign	1 lab	558b10911e
11:17663706 OTOG C>T	11	17663706	17663706	C	T	OTOG	c.8364C>T	NM_001277269.1	NP_001264198.1:p.(Arg2788=)	NC_000011.9:g.17663706C>T	(Likely) benign	1 lab	558b6cca14
11:126160795 TIRAP A>G	11	126160795	126160795	A	G	TIRAP	c.6A>G	NM_001039661.1	NP_001034750.1:p.(Ala2=)	NC_000011.9:g.126160795A>G	(Likely) benign	1 lab	558d45ceb9
2:149226880 MBD5 GC>G	2	149226880	149226884	GC	G	MBD5	c.1372del	NM_001378120.1	NP_001365049.1:p.(Gln458LysfsTer16)	NC_000002.11:g.149226884del	(Likely) pathogenic	1 lab	558dc53816
1:227153118 COQ8A A>G	1	227153118	227153118	A	G	COQ8A	c.588+7A>G	NM_020247.4	NP_064632.2:p.?	NC_000001.10:g.227153118A>G	(Likely) benign	1 lab	558eed6b0d
8:11996200 USP17L2 G>A	8	11996200	11996200	G	A	USP17L2	c.70C>T	NM_201402.2	NP_958804.2:p.(Arg24Trp)	NC_000008.10:g.11996200G>A	(Likely) benign	1 lab	558fc272a1
4:1348576 UVSSA C>T	4	1348576	1348576	C	T	UVSSA	c.988C>T	NM_020894.3	NP_065945.2:p.(Arg330Cys)	NC_000004.11:g.1348576C>T	VUS	1 lab	558fca4852
12:133209321 POLE C>T	12	133209321	133209321	C	T	POLE	c.6065G>A	NM_006231.4	NP_006222.2:p.(Ser2022Asn)	NC_000012.11:g.133209321C>T	VUS	1 lab	f1728cfb77
4:123252535 BLTP1 A>G	4	123252535	123252535	A	G	BLTP1	c.11304A>G	NM_015312.3	NP_056127.2:p.(Thr3768=)	NC_000004.11:g.123252535A>G	(Likely) benign	1 lab	5590ae9429
X:18942634 PHKA2 G>C	X	18942634	18942634	G	C	PHKA2	c.1579C>G	NM_000292.2	NP_000283.1:p.(Gln527Glu)	NC_000023.10:g.18942634G>C	(Likely) benign	1 lab	559223b5b8
17:56350849 MPO T>C	17	56350849	56350849	T	C	MPO	c.1547A>G	NM_000250.1	NP_000241.1:p.(Tyr516Cys)	NC_000017.10:g.56350849T>C	VUS	1 lab	5593b340eb
X:41088527 USP9X A>T	X	41088527	41088527	A	T	USP9X	c.7083A>T	NM_001039591.3	NP_001034680.2:p.(Gly2361=)	NC_000023.10:g.41088527A>T	VUS	1 lab	5593db7ee2
17:8012636 ALOXE3 AG>A	17	8012636	8012638	AG	A	ALOXE3	c.1417del	NM_021628.3	NP_067641.2:p.(Leu473SerfsTer5)	NC_000017.10:g.8012638del	(Likely) pathogenic	1 lab	559464ba3c
1:44432617 IPO13 C>T	1	44432617	44432617	C	T	IPO13	c.2539C>T	NM_014652.4	NP_055467.3:p.(Arg847Trp)	NC_000001.10:g.44432617C>T	VUS	1 lab	5596736055
X:17745600 NHS C>T	X	17745600	17745600	C	T	NHS	c.3374C>T	NM_001291867.1	NP_001278796.1:p.(Ser1125Leu)	NC_000023.10:g.17745600C>T	(Likely) benign	1 lab	5596e64993
17:18045436 MYO15A G>A	17	18045436	18045436	G	A	MYO15A	c.5693G>A	NM_016239.4	NP_057323.3:p.(Arg1898Gln)	NC_000017.10:g.18045436G>A	VUS	1 lab	f1740be14b
1:10684484 PEX14 C>G	1	10684484	10684484	C	G	PEX14	c.575C>G	NM_004565.2	NP_004556.1:p.(Ala192Gly)	NC_000001.10:g.10684484C>G	VUS	1 lab	5597fb459b
4:1388324 CRIPAK A>C	4	1388324	1388324	A	C	CRIPAK	c.25A>C	NM_175918.3	NP_787114.2:p.(Asn9His)	NC_000004.11:g.1388324A>C	(Likely) benign	1 lab	5598fbc3f9
15:44951415 SPG11 T>G	15	44951415	44951415	T	G	SPG11	c.529A>C	NM_025137.3	NP_079413.3:p.(Ile177Leu)	NC_000015.9:g.44951415T>G	(Likely) benign	1 lab	559adc51d1
1:110171966 AMPD2 C>T	1	110171966	110171966	C	T	AMPD2	c.1878C>T	NM_001257360.1	NP_001244289.1:p.(Ser626=)	NC_000001.10:g.110171966C>T	(Likely) benign	1 lab	559c87e50e
1:215802179 USH2A T>C	1	215802179	215802179	T	C	USH2A	c.15496A>G	NM_206933.2	NP_996816.2:p.(Ile5166Val)	NC_000001.10:g.215802179T>C	VUS	1 lab	559cc3c1fd
6:152776572 SYNE1 G>A	6	152776572	152776572	G	A	SYNE1	c.2881C>T	NM_182961.3	NP_892006.3:p.(Arg961Trp)	NC_000006.11:g.152776572G>A	(Likely) benign	1 lab	559e6dcf95
8:95892410 INTS8 C>T	8	95892410	95892410	C	T	INTS8	c.2936C>T	NM_017864.3	NP_060334.2:p.(Ala979Val)	NC_000008.10:g.95892410C>T	VUS	1 lab	559ea646ff
X:48681909 HDAC6 A>G	X	48681909	48681909	A	G	HDAC6	c.3100A>G	NM_001321226.1	NP_001308155.1:p.(Thr1034Ala)	NC_000023.10:g.48681909A>G	(Likely) benign	1 lab	55a05c1636
17:39919377 JUP G>A	17	39919377	39919377	G	A	JUP	c.1355C>T	NM_021991.2	NP_068831.1:p.(Thr452Met)	NC_000017.10:g.39919377G>A	VUS	1 lab	55a0a86d8d
3:38597202 SCN5A T>C	3	38597202	38597202	T	C	SCN5A	c.4487A>G	NM_001099404.1	NP_001092874.1:p.(Asn1496Ser)	NC_000003.11:g.38597202T>C	VUS	1 lab	55a0f34639
16:79633560 MAF C>G	16	79633560	79633560	C	G	MAF	c.240G>C	NM_001031804.2	NP_001026974.1:p.(Ser80=)	NC_000016.9:g.79633560C>G	(Likely) benign	1 lab	55a23a1b8f
3:78717645 ROBO1 A>G	3	78717645	78717645	A	G	ROBO1	c.1511T>C	NM_133631.3	NP_598334.2:p.(Ile504Thr)	NC_000003.11:g.78717645A>G	VUS	1 lab	55a334b318
16:67201683 HSF4 C>T	16	67201683	67201683	C	T	HSF4	c.915C>T	NM_001040667.2	NP_001035757.1:p.(Ala305=)	NC_000016.9:g.67201683C>T	(Likely) benign	1 lab	55a365c5d1
17:77758670 CBX2 G>T	17	77758670	77758670	G	T	CBX2	c.1428G>T	NM_005189.2	NP_005180.1:p.(Pro476=)	NC_000017.10:g.77758670G>T	(Likely) benign	1 lab	55a5372ab7
X:53278045 IQSEC2 G>A	X	53278045	53278045	G	A	IQSEC2	c.2317C>T	NM_001111125.2	NP_001104595.1:p.(Gln773Ter)	NC_000023.10:g.53278045G>A	(Likely) pathogenic	1 lab	55a550de6d
5:482181 SLC9A3 A>AT	5	482181	482182	A	AT	SLC9A3	c.1446+1_1446+2insA	NM_004174.3	NP_004165.2:p.?	NC_000005.9:g.482181_482182insT	VUS	1 lab	55a5924059
17:29694295 NF1 A>G	17	29694295	29694295	A	G	NF1	c.8314+6574A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29694295A>G	VUS	1 lab	56e0592f3f
3:154889978 MME C>T	3	154889978	154889978	C	T	MME	c.2053C>T	NM_007289.3	NP_009220.2:p.(Leu685=)	NC_000003.11:g.154889978C>T	(Likely) benign	1 lab	55a8a5a831
22:51159912 MISSING C>T	22	51159912	51159912	C	T	MISSING				NC_000022.10:g.51159912C>T	(Likely) benign	1 lab	55a8ccb17b
16:71976646 PKD1L3 C>T	16	71976646	71976646	C	T	PKD1L3	c.4141G>A	NM_181536.1	NP_853514.1:p.(Gly1381Ser)	NC_000016.9:g.71976646C>T	(Likely) benign	1 lab	55a9011539
10:55955543 PCDH15 C>G	10	55955543	55955543	C	G	PCDH15				NC_000010.10:g.55955543C>G	VUS	1 lab	55aa50aa90
X:151935700 MAGEA3 C>T	X	151935700	151935700	C	T	MAGEA3	c.467G>A	NM_005362.3	NP_005353.1:p.(Ser156Asn)	NC_000023.10:g.151935700C>T	(Likely) benign	1 lab	55aaf6fc2f
X:114426077 RBMXL3 G>C	X	114426077	114426077	G	C	RBMXL3	c.2073G>C	NM_001145346.1	NP_001138818.1:p.(Gly691=)	NC_000023.10:g.114426077G>C	(Likely) benign	1 lab	55ad213585
9:135780967 TSC1 C>G	9	135780967	135780967	C	G	TSC1	c.1997+1G>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135780967C>G	(Likely) pathogenic	1 lab	55ad305d8c
19:50826491 KCNC3 G>C	19	50826491	50826491	G	C	KCNC3	c.1719C>G	NM_004977.2	NP_004968.2:p.(Asn573Lys)	NC_000019.9:g.50826491G>C	VUS	1 lab	55b0191a27
4:1803575 FGFR3 C>G	4	1803575	1803575	C	G	FGFR3	c.753C>G	NM_000142.4	NP_000133.1:p.(His251Gln)	NC_000004.11:g.1803575C>G	VUS	1 lab	55b0e55df4
X:129272587 AIFM1 G>T	X	129272587	129272587	G	T	AIFM1	c.948C>A	NM_001130847.3	NP_001124319.1:p.(Ala316=)	NC_000023.10:g.129272587G>T	(Likely) benign	1 lab	55b21cd858
11:85361382 TMEM126A A>C	11	85361382	85361382	A	C	TMEM126A	c.83A>C	NM_032273.3	NP_115649.1:p.(Glu28Ala)	NC_000011.9:g.85361382A>C	VUS	1 lab	55b3d318be
15:78452463 IDH3A C>T	15	78452463	78452463	C	T	IDH3A	c.204C>T	NM_005530.3	NP_005521.1:p.(Val68=)	NC_000015.9:g.78452463C>T	(Likely) benign	1 lab	55b65e1489
14:105411748 AHNAK2 A>G	14	105411748	105411748	A	G	AHNAK2	c.10040T>C	NM_138420.3	NP_612429.2:p.(Met3347Thr)	NC_000014.8:g.105411748A>G	(Likely) benign	1 lab	55b875b9df
11:17158103 PIK3C2A C>T	11	17158103	17158103	C	T	PIK3C2A	c.1774G>A	NM_001321378.1	NP_001308307.1:p.(Glu592Lys)	NC_000011.9:g.17158103C>T	VUS	1 lab	55b943003b
11:45932480 PEX16 G>A	11	45932480	45932480	G	A	PEX16	c.921C>T	NM_057174.2	NP_476515.1:p.(Ala307=)	NC_000011.9:g.45932480G>A	(Likely) benign	1 lab	55b980dc08
19:7626131 PNPLA6 C>T	19	7626131	7626131	C	T	PNPLA6	c.3981C>T	NM_001166111.1	NP_001159583.1:p.(Asp1327=)	NC_000019.9:g.7626131C>T	(Likely) benign	1 lab	55bafabb3d
1:150116962 VPS45 G>A	1	150116962	150116962	G	A	VPS45	c.1480G>A	NM_001279353.1	NP_001266282.1:p.(Glu494Lys)	NC_000001.10:g.150116962G>A	(Likely) benign	1 lab	55bc6fc22a
17:41219637 BRCA1 C>G	17	41219637	41219637	C	G	BRCA1	c.5062G>C	NM_007294.4	NP_009225.1:p.(Val1688Leu)	NC_000017.10:g.41219637C>G	VUS	1 lab	f179812523
9:20926306 FOCAD C>A	9	20926306	20926306	C	A	FOCAD	c.2968C>A	NM_017794.4	NP_060264.4:p.(Pro990Thr)	NC_000009.11:g.20926306C>A	VUS	1 lab	55bd0f1ca5
X:115582643 SLC6A14 C>T	X	115582643	115582643	C	T	SLC6A14	c.967C>T	NM_007231.4	NP_009162.1:p.(Leu323Phe)	NC_000023.10:g.115582643C>T	VUS	1 lab	55bd7b7e3d
4:57890230 POLR2B C>G	4	57890230	57890230	C	G	POLR2B	c.2895C>G	NM_001303269.1	NP_001290198.1:p.(Ile965Met)	NC_000004.11:g.57890230C>G	VUS	1 lab	55be6c7b5a
15:83544138 HOMER2 T>C	15	83544138	83544138	T	C	HOMER2	c.181A>G	NM_199330.2	NP_955362.1:p.(Ile61Val)	NC_000015.9:g.83544138T>C	VUS	1 lab	55bee2cdc1
9:124044749 GSN G>A	9	124044749	124044749	G	A	GSN	c.20G>A	NM_001127663.1	NP_001121135.2:p.(Arg7His)	NC_000009.11:g.124044749G>A	VUS	1 lab	55befbc361
3:33094973 GLB1 C>T	3	33094973	33094973	C	T	GLB1	c.936+10G>A	NM_001317040.1	NP_001303969.1:p.?	NC_000003.11:g.33094973C>T	(Likely) benign	1 lab	55c236865c
2:48033420 MSH6 C>T	2	48033420	48033420	C	T	MSH6	c.3724C>T	NM_000179.3	NP_000170.1:p.(Arg1242Cys)	NC_000002.11:g.48033420C>T	VUS	1 lab	f17c473d3e
3:38519749 ACVR2B G>A	3	38519749	38519749	G	A	ACVR2B	c.488G>A	NM_001106.3	NP_001097.2:p.(Arg163His)	NC_000003.11:g.38519749G>A	VUS	1 lab	55c2e997a9
X:54472606 FGD1 G>A	X	54472606	54472606	G	A	FGD1	c.2822C>T	NM_004463.2	NP_004454.2:p.(Pro941Leu)	NC_000023.10:g.54472606G>A	VUS	1 lab	55c4091600
9:35657741 CCDC107 A>G	9	35657741	35657741	A	G	CCDC107				NC_000009.11:g.35657741A>G	(Likely) benign	1 lab	f17e7e3a75
7:2952912 CARD11 G>A	7	2952912	2952912	G	A	CARD11	c.3019+9C>T	NM_001324281.1	NP_001311210.1:p.?	NC_000007.13:g.2952912G>A	VUS	1 lab	55c452a08b
5:14488161 TRIO C>A	5	14488161	14488161	C	A	TRIO	c.7424C>A	NM_007118.4	NP_009049.2:p.(Pro2475His)	NC_000005.9:g.14488161C>A	VUS	1 lab	f1852f3f09
X:144906162 SLITRK2 C>T	X	144906162	144906162	C	T	SLITRK2	c.2219C>T	NM_032539.4	NP_115928.1:p.(Thr740Ile)	NC_000023.10:g.144906162C>T	(Likely) benign	1 lab	55c5deee40
4:88537042 DSPP C>T	4	88537042	88537042	C	T	DSPP	c.3228C>T	NM_014208.3	NP_055023.2:p.(Ser1076=)	NC_000004.11:g.88537042C>T	(Likely) benign	1 lab	55c6957fc9
17:80529611 FOXK2 G>A	17	80529611	80529611	G	A	FOXK2	c.774G>A	NM_004514.4	NP_004505.2:p.(Lys258=)	NC_000017.10:g.80529611G>A	(Likely) benign	1 lab	55c6ab27fb
21:38538736 TTC3 T>G	21	38538736	38538736	T	G	TTC3	c.4220T>G	NM_003316.4	NP_003307.3:p.(Leu1407Arg)	NC_000021.8:g.38538736T>G	VUS	1 lab	55c76c94d8
11:6238633 FHIP1B G>A	11	6238633	6238633	G	A	FHIP1B	c.2225C>T	NM_032127.3	NP_115503.2:p.(Thr742Ile)	NC_000011.9:g.6238633G>A	(Likely) benign	1 lab	55c7900368
1:228353552 IBA57 C>A	1	228353552	228353552	C	A	IBA57	c.35C>A	NM_001010867.3	NP_001010867.1:p.(Pro12Gln)	NC_000001.10:g.228353552C>A	VUS	1 lab	55ca807822
16:70972532 HYDIN C>G	16	70972532	70972532	C	G	HYDIN	c.6980G>C	NM_001270974.2	NP_001257903.1:p.(Arg2327Pro)	NC_000016.9:g.70972532C>G	(Likely) benign	1 lab	55cb5d6615
X:69561639 KIF4A T>C	X	69561639	69561639	T	C	KIF4A	c.1134-10T>C	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69561639T>C	(Likely) benign	1 lab	55ce4caa18
7:142460781 PRSS1 T>C	7	142460781	142460781	T	C	PRSS1	c.654T>C	NM_002769.4	NP_002760.1:p.(Asp218=)	NC_000007.13:g.142460781T>C	(Likely) benign	1 lab	55cf48401f
12:89885761 POC1B C>T	12	89885761	89885761	C	T	POC1B	c.404G>A	NM_172240.2	NP_758440.1:p.(Arg135His)	NC_000012.11:g.89885761C>T	VUS	1 lab	55cf8d38a5
3:129252473 RHO C>A	3	129252473	129252473	C	A	RHO	c.959C>A	NM_000539.3	NP_000530.1:p.(Thr320Asn)	NC_000003.11:g.129252473C>A	(Likely) benign	1 lab	55d1c51cd0
20:60902644 LAMA5 G>A	20	60902644	60902644	G	A	LAMA5	c.4879C>T	NM_005560.4	NP_005551.3:p.(Arg1627Cys)	NC_000020.10:g.60902644G>A	VUS	1 lab	55d1d94582
2:65331874 RAB1A C>A	2	65331874	65331874	C	A	RAB1A	c.90G>T	NM_004161.5	NP_004152.1:p.(Arg30Ser)	NC_000002.11:g.65331874C>A	VUS	1 lab	55d30ce059
7:4825906 AP5Z1 A>G	7	4825906	4825906	A	G	AP5Z1	c.1158A>G	NM_014855.3	NP_055670.1:p.(Glu386=)	NC_000007.13:g.4825906A>G	(Likely) benign	1 lab	55d31cd0ed
12:58022914 B4GALNT1 T>C	12	58022914	58022914	T	C	B4GALNT1	c.728A>G	NM_001478.4	NP_001469.1:p.(Glu243Gly)	NC_000012.11:g.58022914T>C	(Likely) benign	1 lab	55d617b618
13:77575029 CLN5 G>T	13	77575029	77575029	G	T	CLN5	c.1149G>T	NM_006493.2	NP_006484.1:p.(Met383Ile)	NC_000013.10:g.77575029G>T	VUS	1 lab	55d674d191
11:118375257 KMT2A T>C	11	118375257	118375257	T	C	KMT2A	c.8650T>C	NM_001197104.1	NP_001184033.1:p.(Leu2884=)	NC_000011.9:g.118375257T>C	(Likely) benign	1 lab	55d6ddd01e
18:6949258 LAMA1 C>T	18	6949258	6949258	C	T	LAMA1	c.8398G>A	NM_005559.3	NP_005550.2:p.(Val2800Ile)	NC_000018.9:g.6949258C>T	VUS	1 lab	55d729e6a6
13:32893236 BRCA2 T>C	13	32893236	32893236	T	C	BRCA2	c.90T>C	NM_000059.3	NP_000050.2:p.(Asn30=)	NC_000013.10:g.32893236T>C	(Likely) benign	1 lab	55de536b26
2:179552868 TTN C>G	2	179552868	179552868	C	G	TTN	c.32281G>C	NM_001267550.1	NP_001254479.1:p.(Glu10761Gln)	NC_000002.11:g.179552868C>G	VUS	1 lab	55df4e6bb6
14:50768801 L2HGDH T>A	14	50768801	50768801	T	A	L2HGDH	c.342A>T	NM_024884.2	NP_079160.1:p.(Val114=)	NC_000014.8:g.50768801T>A	(Likely) benign	1 lab	55e0f17f0a
16:2130322 TSC2 C>T	16	2130322	2130322	C	T	TSC2	c.3554C>T	NM_000548.3	NP_000539.2:p.(Ala1185Val)	NC_000016.9:g.2130322C>T	VUS	1 lab	55e16210df
4:128812790 PLK4 C>G	4	128812790	128812790	C	G	PLK4	c.1992C>G	NM_014264.4	NP_055079.3:p.(Pro664=)	NC_000004.11:g.128812790C>G	(Likely) benign	1 lab	55e24e9056
8:10467694 RP1L1 T>G	8	10467694	10467694	T	G	RP1L1	c.3914A>C	NM_178857.5	NP_849188.4:p.(Glu1305Ala)	NC_000008.10:g.10467694T>G	(Likely) benign	1 lab	55e25d0ac0
19:13007063 GCDH G>C	19	13007063	13007063	G	C	GCDH	c.680G>C	NM_000159.3	NP_000150.1:p.(Arg227Pro)	NC_000019.9:g.13007063G>C	(Likely) pathogenic	1 lab	55e2d8a402
19:50832316 KCNC3 C>A	19	50832316	50832316	C	A	KCNC3	c.24G>T	NM_004977.2	NP_004968.2:p.(Ser8=)	NC_000019.9:g.50832316C>A	(Likely) benign	1 lab	55e70c64f3
1:94505659 ABCA4 C>A	1	94505659	94505659	C	A	ABCA4	c.3547G>T	NM_000350.2	NP_000341.2:p.(Gly1183Cys)	NC_000001.10:g.94505659C>A	VUS	1 lab	55e8b5cf91
X:53631637 HUWE1 G>A	X	53631637	53631637	G	A	HUWE1	c.2655C>T	NM_031407.6	NP_113584.3:p.(Leu885=)	NC_000023.10:g.53631637G>A	(Likely) benign	1 lab	55e9b96455
20:61468499 COL9A3 C>T	20	61468499	61468499	C	T	COL9A3	c.1668C>T	NM_001853.4	NP_001844.3:p.(Pro556=)	NC_000020.10:g.61468499C>T	(Likely) benign	1 lab	55eb21d1d6
18:44140236 LOXHD1 C>T	18	44140236	44140236	C	T	LOXHD1	c.2871G>A	NM_144612.6	NP_653213.6:p.(Ser957=)	NC_000018.9:g.44140236C>T	(Likely) benign	1 lab	55ec5335c5
19:828230 AZU1 G>A	19	828230	828230	G	A	AZU1	c.59G>A	NM_001700.5	NP_001691.1:p.(Gly20Asp)	NC_000019.9:g.828230G>A	VUS	1 lab	5736d6a183
11:8117192 TUB G>C	11	8117192	8117192	G	C	TUB	c.710G>C	NM_003320.4	NP_003311.2:p.(Arg237Pro)	NC_000011.9:g.8117192G>C	VUS	1 lab	696fc3759b
2:171319954 MYO3B G>A	2	171319954	171319954	G	A	MYO3B	c.2807G>A	NM_138995.4	NP_620482.3:p.(Arg936Gln)	NC_000002.11:g.171319954G>A	VUS	1 lab	55ec81fb9b
22:40814950 MRTFA C>G	22	40814950	40814950	C	G	MRTFA				NC_000022.10:g.40814950C>G	(Likely) benign	1 lab	55ecbb9f43
16:51171055 SALL1 C>T	16	51171055	51171055	C	T	SALL1	c.3652G>A	NM_001127892.1	NP_001121364.1:p.(Val1218Met)	NC_000016.9:g.51171055C>T	VUS	1 lab	55ecc2908c
X:123514586 TENM1 T>C	X	123514586	123514586	T	C	TENM1	c.7999A>G	NM_001163278.1	NP_001156750.1:p.(Thr2667Ala)	NC_000023.10:g.123514586T>C	(Likely) benign	1 lab	55eccdef87
18:42643461 SETBP1 T>C	18	42643461	42643461	T	C	SETBP1	c.4589T>C	NM_015559.3	NP_056374.2:p.(Leu1530Pro)	NC_000018.9:g.42643461T>C	(Likely) benign	1 lab	55ed2735c7
9:108382214 FKTN G>A	9	108382214	108382214	G	A	FKTN	c.649-1G>A	NM_001351502.1	NP_001338431.1:p.?	NC_000009.11:g.108382214G>A	(Likely) pathogenic	1 lab	55ed7ac298
X:153693509 PLXNA3 G>A	X	153693509	153693509	G	A	PLXNA3	c.2192G>A	NM_017514.4	NP_059984.3:p.(Arg731Gln)	NC_000023.10:g.153693509G>A	VUS	1 lab	55ed891abd
5:70793107 BDP1 C>G	5	70793107	70793107	C	G	BDP1	c.1810C>G	NM_018429.2	NP_060899.2:p.(Gln604Glu)	NC_000005.9:g.70793107C>G	VUS	1 lab	55ed94062f
3:189690746 P3H2 C>T	3	189690746	189690746	C	T	P3H2	c.1616G>A	NM_018192.4	NP_060662.2:p.(Arg539Gln)	NC_000003.11:g.189690746C>T	VUS	1 lab	55ee8dab71
17:29490399 NF1 G>A	17	29490399	29490399	G	A	NF1	c.479+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29490399G>A	(Likely) pathogenic	1 lab	55ee9a67e1
1:43296657 ERMAP A>T	1	43296657	43296657	A	T	ERMAP	c.304A>T	NM_001017922.1	NP_001017922.1:p.(Arg102Ter)	NC_000001.10:g.43296657A>T	(Likely) pathogenic	1 lab	55ef564a12
16:70902610 HYDIN G>A	16	70902610	70902610	G	A	HYDIN	c.11173C>T	NM_001270974.2	NP_001257903.1:p.(Arg3725Trp)	NC_000016.9:g.70902610G>A	(Likely) benign	1 lab	55efdc5372
13:101757011 NALCN A>C	13	101757011	101757011	A	C	NALCN	c.2637-10T>G	NM_052867.3	NP_443099.1:p.?	NC_000013.10:g.101757011A>C	(Likely) benign	1 lab	55f00d65f0
X:75649282 MAGEE1 T>C	X	75649282	75649282	T	C	MAGEE1	c.959T>C	NM_020932.2	NP_065983.1:p.(Val320Ala)	NC_000023.10:g.75649282T>C	(Likely) benign	1 lab	55f093c99f
2:242375921 FARP2 G>A	2	242375921	242375921	G	A	FARP2	c.1126G>A	NM_014808.4	NP_055623.1:p.(Val376Ile)	NC_000002.11:g.242375921G>A	(Likely) benign	1 lab	55f2bd0aa9
14:105236672 AKT1 G>A	14	105236672	105236672	G	A	AKT1	c.*6C>T	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105236672G>A	(Likely) benign	1 lab	55f2e1e92d
1:108023408 NTNG1 A>G	1	108023408	108023408	A	G	NTNG1	c.1566A>G	NM_001113226.2	NP_001106697.1:p.(Pro522=)	NC_000001.10:g.108023408A>G	(Likely) benign	1 lab	55f4ef16b6
18:67727285 RTTN T>C	18	67727285	67727285	T	C	RTTN	c.4748-7A>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67727285T>C	(Likely) benign	1 lab	55f52e50dd
8:62580799 ASPH C>T	8	62580799	62580799	C	T	ASPH	c.316G>A	NM_020164.4	NP_064549.1:p.(Ala106Thr)	NC_000008.10:g.62580799C>T	(Likely) benign	1 lab	55f633ba15
17:29654854 NF1 T>TA	17	29654854	29654855	T	TA	NF1	c.5544dup	NM_000267.3	NP_000258.1:p.(Arg1849ThrfsTer6)	NC_000017.10:g.29654855dup	(Likely) pathogenic	1 lab	55f879132d
7:103033364 SLC26A5 A>G	7	103033364	103033364	A	G	SLC26A5	c.1119+2T>C	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103033364A>G	(Likely) pathogenic	1 lab	55fa2f87ee
4:89028352 ABCG2 T>C	4	89028352	89028352	T	C	ABCG2	c.1261A>G	NM_001348985.1	NP_001335914.1:p.(Thr421Ala)	NC_000004.11:g.89028352T>C	VUS	1 lab	55faaa2d0c
6:107475889 PDSS2 G>A	6	107475889	107475889	G	A	PDSS2	c.1134C>T	NM_020381.3	NP_065114.3:p.(Ser378=)	NC_000006.11:g.107475889G>A	(Likely) benign	1 lab	55fc6d740b
17:17697464 RAI1 C>T	17	17697464	17697464	C	T	RAI1	c.1202C>T	NM_030665.3	NP_109590.3:p.(Thr401Met)	NC_000017.10:g.17697464C>T	VUS	1 lab	55fdee8e1c
5:52367773 ITGA2 C>T	5	52367773	52367773	C	T	ITGA2	c.2241C>T	NM_002203.3	NP_002194.2:p.(Pro747=)	NC_000005.9:g.52367773C>T	(Likely) benign	1 lab	55fee6da48
X:110388123 PAK3 C>T	X	110388123	110388123	C	T	PAK3	c.312C>T	NM_001128168.2	NP_001121640.1:p.(Val104=)	NC_000023.10:g.110388123C>T	(Likely) benign	1 lab	55ff6816c6
19:7605560 PNPLA6 C>T	19	7605560	7605560	C	T	PNPLA6	c.786C>T	NM_001166111.1	NP_001159583.1:p.(Ser262=)	NC_000019.9:g.7605560C>T	(Likely) benign	1 lab	5600172b4d
20:10625509 JAG1 ACT>A	20	10625509	10625513	ACT	A	JAG1	c.2344_2344+1del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625512_10625513del	(Likely) pathogenic	1 lab	5600530dc0
17:18167496 MIEF2 G>A	17	18167496	18167496	G	A	MIEF2	c.783G>A	NM_139162.4	NP_631901.2:p.(Ala261=)	NC_000017.10:g.18167496G>A	(Likely) benign	1 lab	5601709b1f
21:47821619 PCNT T>C	21	47821619	47821619	T	C	PCNT	c.4946T>C	NM_006031.5	NP_006022.3:p.(Leu1649Pro)	NC_000021.8:g.47821619T>C	VUS	1 lab	560172b518
1:176659612 PAPPA2 G>T	1	176659612	176659612	G	T	PAPPA2	c.2477G>T	NM_021936.2	NP_068755.2:p.(Gly826Val)	NC_000001.10:g.176659612G>T	VUS	1 lab	5603f64b78
15:48800775 FBN1 G>A	15	48800775	48800775	G	A	FBN1	c.1837+4C>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48800775G>A	(Likely) benign	1 lab	56045e8a56
6:152539539 SYNE1 C>CT	6	152539539	152539546	C	CT	SYNE1	c.22045-2dup	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152539546dup	(Likely) benign	1 lab	5604f0d498
16:14702919 PARN T>C	16	14702919	14702919	T	C	PARN	c.616A>G	NM_002582.4	NP_002573.1:p.(Thr206Ala)	NC_000016.9:g.14702919T>C	VUS	1 lab	5604fde45b
X:66943532 AR C>G	X	66943532	66943532	C	G	AR	c.2612C>G	NM_000044.4	NP_000035.2:p.(Ala871Gly)	NC_000023.10:g.66943532C>G	(Likely) pathogenic	1 lab	560562af84
8:41529994 ANK1 G>A	8	41529994	41529994	G	A	ANK1	c.5097C>T	NM_001142446.1	NP_001135918.1:p.(Asp1699=)	NC_000008.10:g.41529994G>A	(Likely) benign	1 lab	56056a5e04
X:152807836 ATP2B3 C>T	X	152807836	152807836	C	T	ATP2B3	c.720C>T	NM_021949.3	NP_068768.2:p.(Asp240=)	NC_000023.10:g.152807836C>T	(Likely) benign	1 lab	5605bc19ba
1:6269519 RNF207 C>G	1	6269519	6269519	C	G	RNF207	c.673C>G	NM_207396.3	NP_997279.2:p.(Leu225Val)	NC_000001.10:g.6269519C>G	VUS	1 lab	5605def655
21:46914474 COL18A1 C>T	21	46914474	46914474	C	T	COL18A1	c.2368C>T	NM_130445.2	NP_569712.2:p.(Arg790Ter)	NC_000021.8:g.46914474C>T	(Likely) pathogenic	1 lab	56077f6ab1
1:9809940 CLSTN1 G>A	1	9809940	9809940	G	A	CLSTN1	c.681C>T	NM_001009566.2	NP_001009566.1:p.(Tyr227=)	NC_000001.10:g.9809940G>A	(Likely) benign	1 lab	5608ac0db0
3:180359923 CCDC39 T>C	3	180359923	180359923	T	C	CCDC39	c.1732A>G	NM_181426.2	NP_852091.1:p.(Lys578Glu)	NC_000003.11:g.180359923T>C	VUS	1 lab	5608fdd9a1
20:47626847 ARFGEF2 T>C	20	47626847	47626847	T	C	ARFGEF2	c.3663T>C	NM_006420.3	NP_006411.2:p.(Gly1221=)	NC_000020.10:g.47626847T>C	(Likely) benign	1 lab	f1930b9b2d
X:38178157 RPGR C>T	X	38178157	38178157	C	T	RPGR	c.394G>A	NM_001034853.1	NP_001030025.1:p.(Val132Ile)	NC_000023.10:g.38178157C>T	(Likely) benign	1 lab	560b75cf51
9:139276718 SNAPC4 C>T	9	139276718	139276718	C	T	SNAPC4	c.2054G>A	NM_003086.3	NP_003077.2:p.(Arg685Gln)	NC_000009.11:g.139276718C>T	(Likely) benign	1 lab	560c756ff5
2:20130299 WDR35 C>CAAGGCAGAAGTGGCCTACGAGTA	2	20130299	20130325	C	CAAGGCAGAAGTGGCCTACGAGTA	WDR35	c.3011_3012insTACTCGTAGGCCACTTCTGCCTT	NM_001006657.1	NP_001006658.1:p.(Leu1004PhefsTer54)	NC_000002.11:g.20130303_20130325dup	(Likely) pathogenic	1 lab	560db11898
6:49403334 MMUT A>G	6	49403334	49403334	A	G	MMUT	c.1959T>C	NM_000255.3	NP_000246.2:p.(Thr653=)	NC_000006.11:g.49403334A>G	(Likely) benign	1 lab	560eb9088a
15:66995833 SMAD6 CG>C	15	66995833	66995834	CG	C	SMAD6	c.238del	NM_005585.5	NP_005576.3:p.(Ala80ArgfsTer45)	NC_000015.9:g.66995834del	(Likely) pathogenic	1 lab	560f13ddca
10:81841421 TMEM254 C>CAA	10	81841421	81841431	C	CAA	TMEM254	c.47_48dup	NM_001270374.1	NP_001257303.1:p.(Glu17LysfsTer6)	NC_000010.10:g.81841430_81841431dup	(Likely) benign	1 lab	56108b0ba8
7:105190733 RINT1 T>C	7	105190733	105190733	T	C	RINT1	c.1133T>C	NM_021930.5	NP_068749.3:p.(Met378Thr)	NC_000007.13:g.105190733T>C	(Likely) benign	1 lab	5610f861d9
1:19180949 TAS1R2 G>A	1	19180949	19180949	G	A	TAS1R2	c.1015C>T	NM_152232.2	NP_689418.2:p.(Arg339Cys)	NC_000001.10:g.19180949G>A	VUS	1 lab	5611ddd08f
17:56283519 MKS1 C>T	17	56283519	56283519	C	T	MKS1	c.1601G>A	NM_017777.3	NP_060247.2:p.(Arg534Gln)	NC_000017.10:g.56283519C>T	VUS	1 lab	56120fac81
X:153247831 TMEM187 G>A	X	153247831	153247831	G	A	TMEM187	c.318G>A	NM_003492.2	NP_003483.1:p.(Thr106=)	NC_000023.10:g.153247831G>A	(Likely) benign	1 lab	5616f80234
15:90631706 IDH2 C>T	15	90631706	90631706	C	T	IDH2	c.563G>A	NM_002168.3	NP_002159.2:p.(Arg188Gln)	NC_000015.9:g.90631706C>T	(Likely) benign	1 lab	56187a6b78
19:52693411 PPP2R1A G>A	19	52693411	52693411	G	A	PPP2R1A	c.62G>A	NM_014225.5	NP_055040.2:p.(Arg21His)	NC_000019.9:g.52693411G>A	VUS	1 lab	56189649fd
13:51530477 RNASEH2B C>T	13	51530477	51530477	C	T	RNASEH2B	c.823-17C>T	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51530477C>T	(Likely) benign	1 lab	561b067fb0
X:9841810 SHROOM2 G>T	X	9841810	9841810	G	T	SHROOM2	c.284G>T	NM_001649.3	NP_001640.1:p.(Gly95Val)	NC_000023.10:g.9841810G>T	VUS	1 lab	561b1d58ba
19:861014 CFD C>G	19	861014	861014	C	G	CFD	c.357+9C>G	NM_001928.2	NP_001919.2:p.?	NC_000019.9:g.861014C>G	(Likely) benign	1 lab	561b25c14b
2:179435683 TTN G>GT	2	179435683	179435684	G	GT	TTN	c.75175dup	NM_001267550.2	NP_001254479.2:p.(Thr25059AsnfsTer5)	NC_000002.11:g.179435684dup	(Likely) pathogenic	1 lab	f1951a7ec2
6:152552704 SYNE1 T>TA	6	152552704	152552713	T	TA	SYNE1	c.20863-3dup	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152552713dup	(Likely) benign	1 lab	561df3d069
X:74318902 ABCB7 GA>G	X	74318902	74318905	GA	G	ABCB7	c.334-7del	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74318905del	VUS	1 lab	561e49b52f
3:37053347 MLH1 TA>T	3	37053347	37053353	TA	T	MLH1	c.588del	NM_000249.4	NP_000240.1:p.(Lys196AsnfsTer6)	NC_000003.11:g.37053353del	(Likely) pathogenic	1 lab	561ee266dc
14:105404976 AHNAK2 T>C	14	105404976	105404976	T	C	AHNAK2	c.16812A>G	NM_138420.3	NP_612429.2:p.(Ser5604=)	NC_000014.8:g.105404976T>C	(Likely) benign	1 lab	561f6afd12
X:49105390 CCDC22 A>G	X	49105390	49105390	A	G	CCDC22	c.1539+5A>G	NM_014008.5	NP_054727.1:p.?	NC_000023.10:g.49105390A>G	(Likely) benign	1 lab	f1971d7652
1:17295668 CROCC G>A	1	17295668	17295668	G	A	CROCC	c.5134G>A	NM_014675.5	NP_055490.4:p.(Gly1712Arg)	NC_000001.10:g.17295668G>A	(Likely) benign	1 lab	5620001e5d
10:102775529 PDZD7 C>T	10	102775529	102775529	C	T	PDZD7	c.1613G>A	NM_001195263.1	NP_001182192.1:p.(Gly538Glu)	NC_000010.10:g.102775529C>T	(Likely) benign	1 lab	5620b70765
19:58420580 ZNF417 C>G	19	58420580	58420580	C	G	ZNF417	c.1066G>C	NM_152475.3	NP_689688.2:p.(Glu356Gln)	NC_000019.9:g.58420580C>G	VUS	1 lab	5621b0d287
6:72984118 RIMS1 G>A	6	72984118	72984118	G	A	RIMS1	c.3465G>A	NM_014989.5	NP_055804.2:p.(Ala1155=)	NC_000006.11:g.72984118G>A	(Likely) benign	1 lab	56236ecc84
X:101139430 ZMAT1 C>A	X	101139430	101139430	C	A	ZMAT1	c.456G>T	NM_001282400.1	NP_001269329.1:p.(Lys152Asn)	NC_000023.10:g.101139430C>A	(Likely) benign	1 lab	5623bfe358
17:29490290 NF1 TG>T	17	29490290	29490291	TG	T	NF1	c.376del	NM_001042492.3	NP_001035957.1:p.(Glu126LysfsTer39)	NC_000017.10:g.29490291del	(Likely) pathogenic	1 lab	562510916e
16:15808802 MYH11 A>G	16	15808802	15808802	A	G	MYH11	c.5771T>C	NM_001040113.1	NP_001035202.1:p.(Met1924Thr)	NC_000016.9:g.15808802A>G	VUS	1 lab	5625619dc7
10:50713999 ERCC6 G>C	10	50713999	50713999	G	C	ERCC6	c.1457C>G	NM_000124.2	NP_000115.1:p.(Ser486Cys)	NC_000010.10:g.50713999G>C	VUS	1 lab	56271d007e
18:31323788 ASXL3 T>A	18	31323788	31323788	T	A	ASXL3	c.3976T>A	NM_030632.2	NP_085135.1:p.(Ser1326Thr)	NC_000018.9:g.31323788T>A	(Likely) benign	1 lab	5628a99993
8:10466908 RP1L1 C>G	8	10466908	10466908	C	G	RP1L1	c.4700G>C	NM_178857.5	NP_849188.4:p.(Arg1567Pro)	NC_000008.10:g.10466908C>G	VUS	1 lab	562a3986bc
14:105418176 AHNAK2 C>T	14	105418176	105418176	C	T	AHNAK2	c.3612G>A	NM_138420.3	NP_612429.2:p.(Gly1204=)	NC_000014.8:g.105418176C>T	(Likely) benign	1 lab	562d9088b7
X:153186091 ARHGAP4 G>T	X	153186091	153186091	G	T	ARHGAP4	c.670C>A	NM_001164741.1	NP_001158213.1:p.(Leu224Met)	NC_000023.10:g.153186091G>T	VUS	1 lab	562e65f34f
17:6441363 PITPNM3 C>T	17	6441363	6441363	C	T	PITPNM3	c.62G>A	NM_031220.3	NP_112497.2:p.(Arg21Gln)	NC_000017.10:g.6441363C>T	(Likely) benign	1 lab	562f7eef94
20:50139907 NFATC2 C>A	20	50139907	50139907	C	A	NFATC2	c.873G>T	NM_012340.5	NP_036472.2:p.(Pro291=)	NC_000020.10:g.50139907C>A	(Likely) benign	1 lab	5630506a13
5:42711280 GHR C>T	5	42711280	42711280	C	T	GHR	c.619-29C>T	NM_000163.4	NP_000154.1:p.?	NC_000005.9:g.42711280C>T	(Likely) benign	1 lab	5630764588
X:76938004 ATRX C>G	X	76938004	76938004	C	G	ATRX	c.2744G>C	NM_000489.5	NP_000480.3:p.(Ser915Thr)	NC_000023.10:g.76938004C>G	(Likely) benign	1 lab	5631d790ed
3:183966617 ALG3 C>G	3	183966617	183966617	C	G	ALG3	c.112G>C	NM_005787.5	NP_005778.1:p.(Glu38Gln)	NC_000003.11:g.183966617C>G	(Likely) benign	1 lab	56325008b4
X:69262132 AWAT2 C>T	X	69262132	69262132	C	T	AWAT2	c.752G>A	NM_001002254.1	NP_001002254.1:p.(Ser251Asn)	NC_000023.10:g.69262132C>T	(Likely) benign	1 lab	563435d76e
16:21416094 NPIPB3 G>C	16	21416094	21416094	G	C	NPIPB3	c.1163C>G	NM_130464.3	NP_569731.2:p.(Pro388Arg)	NC_000016.9:g.21416094G>C	(Likely) benign	1 lab	563489e19f
9:102988354 INVS G>A	9	102988354	102988354	G	A	INVS	c.284G>A	NM_014425.4	NP_055240.2:p.(Arg95His)	NC_000009.11:g.102988354G>A	VUS	1 lab	56358f51b6
9:27062685 IFT74 A>G	9	27062685	27062685	A	G	IFT74	c.1754A>G	NM_001099222.2	NP_001092692.1:p.(Glu585Gly)	NC_000009.11:g.27062685A>G	VUS	1 lab	5635c7f205
1:119964624 HSD3B2 C>T	1	119964624	119964624	C	T	HSD3B2	c.500C>T	NM_001166120.1	NP_001159592.1:p.(Ala167Val)	NC_000001.10:g.119964624C>T	(Likely) benign	1 lab	5636c32770
15:81221374 CEMIP C>T	15	81221374	81221374	C	T	CEMIP	c.2471C>T	NM_001293298.2	NP_001280227.1:p.(Pro824Leu)	NC_000015.9:g.81221374C>T	VUS	1 lab	56372db64e
3:98312171 CPOX G>C	3	98312171	98312171	G	C	CPOX	c.178C>G	NM_000097.7	NP_000088.3:p.(Arg60Gly)	NC_000003.11:g.98312171G>C	VUS	1 lab	563760bcae
1:115256607 NRAS T>C	1	115256607	115256607	T	C	NRAS				NC_000001.10:g.115256607T>C	(Likely) benign	1 lab	69ea2762ff
9:120474969 TLR4 A>G	9	120474969	120474969	A	G	TLR4	c.443A>G	NM_003266.3	NP_003257.1:p.(Gln148Arg)	NC_000009.11:g.120474969A>G	VUS	1 lab	5639b731bc
6:31324046 HLA-B C>T	6	31324046	31324046	C	T	HLA-B	c.517G>A	NM_005514.7	NP_005505.2:p.(Ala173Thr)	NC_000006.11:g.31324046C>T	VUS	1 lab	563a2caa69
4:39207280 WDR19 C>T	4	39207280	39207280	C	T	WDR19	c.814C>T	NM_025132.3	NP_079408.3:p.(Arg272Cys)	NC_000004.11:g.39207280C>T	VUS	1 lab	563cf864e1
16:72822716 ZFHX3 A>G	16	72822716	72822716	A	G	ZFHX3	c.9459T>C	NM_006885.3	NP_008816.3:p.(Gly3153=)	NC_000016.9:g.72822716A>G	(Likely) benign	1 lab	563fbc871f
1:247588791 NLRP3 G>A	1	247588791	247588791	G	A	NLRP3	c.2040G>A	NM_001243133.1	NP_001230062.1:p.(Gly680=)	NC_000001.10:g.247588791G>A	(Likely) benign	1 lab	5640751192
17:29509520 NF1 A>C	17	29509520	29509520	A	C	NF1	c.731-6A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509520A>C	(Likely) benign	1 lab	5641f11b85
7:44104492 PGAM2 GC>G	7	44104492	44104494	GC	G	PGAM2	c.533del	NM_000290.4	NP_000281.2:p.(Gly178AlafsTer31)	NC_000007.13:g.44104494del	(Likely) pathogenic	1 lab	5641f9c40c
19:4499656 HDGFL2 G>GGGGA	19	4499656	4499662	G	GGGGA	HDGFL2	c.1747_1750dup	NM_001001520.3	NP_001001520.1:p.(Glu584GlyfsTer53)	NC_000019.9:g.4499659_4499662dup	(Likely) benign	1 lab	56424adc58
15:23889927 MAGEL2 G>C	15	23889927	23889927	G	C	MAGEL2	c.2963C>G	NM_019066.4	NP_061939.3:p.(Ser988Cys)	NC_000015.9:g.23889927G>C	VUS	1 lab	5643aecd15
1:236906248 ACTN2 A>C	1	236906248	236906248	A	C	ACTN2	c.536A>C	NM_001278344.1	NP_001265273.1:p.(Glu179Ala)	NC_000001.10:g.236906248A>C	VUS	1 lab	56445b595b
16:47699845 PHKB GC>G	16	47699845	47699850	GC	G	PHKB	c.2427+964del	NM_000293.3	NP_000284.1:p.?	NC_000016.9:g.47699850del	(Likely) benign	1 lab	5644eae8b1
18:55240591 FECH C>T	18	55240591	55240591	C	T	FECH				NC_000018.9:g.55240591C>T	(Likely) benign	1 lab	5645acdb88
20:62321661 RTEL1 C>G	20	62321661	62321661	C	G	RTEL1	c.2280C>G	NM_001283009.1	NP_001269938.1:p.(Ala760=)	NC_000020.10:g.62321661C>G	(Likely) benign	1 lab	5645f68583
6:146755566 GRM1 G>A	6	146755566	146755566	G	A	GRM1	c.3219G>A	NM_001278064.1	NP_001264993.1:p.(Gln1073=)	NC_000006.11:g.146755566G>A	(Likely) benign	1 lab	564720b2be
16:50825606 CYLD G>T	16	50825606	50825606	G	T	CYLD	c.2241+5G>T	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50825606G>T	VUS	1 lab	5647374431
1:231881245 DISC1 G>T	1	231881245	231881245	G	T	DISC1	c.1213G>T	NM_001164537.1	NP_001158009.1:p.(Ala405Ser)	NC_000001.10:g.231881245G>T	VUS	1 lab	5648b44e54
2:179398685 TTN A>T	2	179398685	179398685	A	T	TTN	c.102657T>A	NM_001267550.1	NP_001254479.1:p.(Ser34219Arg)	NC_000002.11:g.179398685A>T	VUS	1 lab	564989b51b
5:112178804 APC C>T	5	112178804	112178804	C	T	APC	c.7513C>T	NM_000038.6	NP_000029.2:p.(Arg2505Ter)	NC_000005.9:g.112178804C>T	(Likely) pathogenic	1 lab	f199ab686e
8:10467835 RP1L1 A>G	8	10467835	10467835	A	G	RP1L1	c.3773T>C	NM_178857.5	NP_849188.4:p.(Phe1258Ser)	NC_000008.10:g.10467835A>G	VUS	1 lab	564c79bc54
17:44117112 KANSL1 C>T	17	44117112	44117112	C	T	KANSL1	c.2159G>A	NM_001193466.1	NP_001180395.1:p.(Arg720His)	NC_000017.10:g.44117112C>T	VUS	1 lab	564df8e479
8:145743027 RECQL4 G>A	8	145743027	145743027	G	A	RECQL4	c.85-8C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145743027G>A	(Likely) benign	1 lab	564ea3256a
21:43815480 TMPRSS3 C>T	21	43815480	43815480	C	T	TMPRSS3	c.47G>A	NM_024022.2	NP_076927.1:p.(Arg16Gln)	NC_000021.8:g.43815480C>T	(Likely) benign	1 lab	5651757150
12:7080124 EMG1 G>T	12	7080124	7080124	G	T	EMG1	c.38G>T	NM_006331.7	NP_006322.4:p.(Arg13Leu)	NC_000012.11:g.7080124G>T	VUS	1 lab	5cfd1b21b5
6:143092441 HIVEP2 CG>C	6	143092441	143092446	CG	C	HIVEP2	c.3434del	NM_006734.4	NP_006725.3:p.(Pro1145ArgfsTer2)	NC_000006.11:g.143092446del	(Likely) pathogenic	1 lab	5654bb1f69
13:35517005 NBEA C>G	13	35517005	35517005	C	G	NBEA	c.48C>G	NM_015678.4	NP_056493.3:p.(Pro16=)	NC_000013.10:g.35517005C>G	(Likely) benign	1 lab	5654ecba1c
3:38674801 SCN5A TCTC>T	3	38674801	38674804	TCTC	T	SCN5A	c.-6_-4del	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38674802_38674804del	(Likely) benign	1 lab	f19f1a768b
2:74594230 DCTN1 G>A	2	74594230	74594230	G	A	DCTN1	c.2258C>T	NM_004082.4	NP_004073.2:p.(Thr753Met)	NC_000002.11:g.74594230G>A	VUS	1 lab	56573a689f
1:7725170 CAMTA1 G>A	1	7725170	7725170	G	A	CAMTA1	c.2563G>A	NM_015215.3	NP_056030.1:p.(Ala855Thr)	NC_000001.10:g.7725170G>A	(Likely) benign	1 lab	56588c6cc9
1:1451420 ATAD3A A>G	1	1451420	1451420	A	G	ATAD3A	c.234A>G	NM_018188.4	NP_060658.3:p.(Ala78=)	NC_000001.10:g.1451420A>G	(Likely) benign	1 lab	5658f6232c
5:75596744 SV2C C>T	5	75596744	75596744	C	T	SV2C	c.1827C>T	NM_014979.4	NP_055794.3:p.(Arg609=)	NC_000005.9:g.75596744C>T	(Likely) benign	1 lab	5659521af3
16:2100489 TSC2 T>A	16	2100489	2100489	T	A	TSC2	c.225+2T>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2100489T>A	(Likely) pathogenic	1 lab	565a7926f2
10:27512307 ACBD5 G>A	10	27512307	27512307	G	A	ACBD5	c.345C>T	NM_001352579.1	NP_001339508.1:p.(Val115=)	NC_000010.10:g.27512307G>A	(Likely) benign	1 lab	565b557332
1:32745776 LCK C>T	1	32745776	32745776	C	T	LCK	c.1292C>T	NM_005356.4	NP_005347.3:p.(Thr431Met)	NC_000001.10:g.32745776C>T	VUS	1 lab	565c5b1c91
2:109384785 RANBP2 T>G	2	109384785	109384785	T	G	RANBP2	c.7790T>G	NM_006267.4	NP_006258.3:p.(Phe2597Cys)	NC_000002.11:g.109384785T>G	(Likely) benign	1 lab	565dd47511
2:109547492 EDAR A>G	2	109547492	109547492	A	G	EDAR	c.-18-4T>C	NM_022336.3	NP_071731.1:p.?	NC_000002.11:g.109547492A>G	(Likely) benign	1 lab	565efccc89
X:99662821 PCDH19 G>A	X	99662821	99662821	G	A	PCDH19	c.775C>T	NM_001184880.1	NP_001171809.1:p.(Arg259Cys)	NC_000023.10:g.99662821G>A	VUS	1 lab	565f27b330
19:50824007 KCNC3 C>T	19	50824007	50824007	C	T	KCNC3	c.2013G>A	NM_004977.2	NP_004968.2:p.(Ala671=)	NC_000019.9:g.50824007C>T	(Likely) benign	1 lab	56656006d3
7:4820844 AP5Z1 G>T	7	4820844	4820844	G	T	AP5Z1	c.80G>T	NM_014855.3	NP_055670.1:p.(Arg27Leu)	NC_000007.13:g.4820844G>T	VUS	1 lab	566879a69e
19:50027825 FCGRT C>CA	19	50027825	50027826	C	CA	FCGRT	c.664dup	NM_001136019.2	NP_001129491.1:p.(Ser222LysfsTer27)	NC_000019.9:g.50027826dup	VUS	1 lab	56690834a5
5:137520205 KIF20A T>C	5	137520205	137520205	T	C	KIF20A	c.1523T>C	NM_005733.3	NP_005724.1:p.(Val508Ala)	NC_000005.9:g.137520205T>C	VUS	1 lab	5669955f36
9:99417434 PRXL2C C>T	9	99417434	99417434	C	T	PRXL2C	c.130G>A	NM_153698.2	NP_714542.1:p.(Gly44Arg)	NC_000009.11:g.99417434C>T	VUS	1 lab	566a471a1b
19:579501 BSG C>T	19	579501	579501	C	T	BSG	c.417C>T	NM_001728.3	NP_001719.2:p.(Pro139=)	NC_000019.9:g.579501C>T	(Likely) benign	1 lab	566db17162
19:48048010 ZNF541 C>G	19	48048010	48048010	C	G	ZNF541	c.1776G>C	NM_001277075.2	NP_001264004.1:p.(Pro592=)	NC_000019.9:g.48048010C>G	(Likely) benign	1 lab	566e4dfe63
14:105860980 PACS2 A>G	14	105860980	105860980	A	G	PACS2	c.2686A>G	NM_001100913.2	NP_001094383.2:p.(Ile896Val)	NC_000014.8:g.105860980A>G	(Likely) benign	1 lab	566e9c1799
22:38129348 TRIOBP C>T	22	38129348	38129348	C	T	TRIOBP	c.3991C>T	NM_001039141.2	NP_001034230.1:p.(Arg1331Trp)	NC_000022.10:g.38129348C>T	VUS	1 lab	566ef49871
3:14154656 CHCHD4 G>A	3	14154656	14154656	G	A	CHCHD4	c.199C>T	NM_144636.2	NP_653237.1:p.(Pro67Ser)	NC_000003.11:g.14154656G>A	VUS	1 lab	5670b33bde
10:55591068 PCDH15 T>A	10	55591068	55591068	T	A	PCDH15	c.4202+7A>T	NM_001354429.1	NP_001341358.1:p.?	NC_000010.10:g.55591068T>A	(Likely) benign	1 lab	5670b40ee7
6:33154380 COL11A2 TG>T	6	33154380	33154385	TG	T	COL11A2	c.798+23del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33154385del	(Likely) pathogenic	1 lab	5671b4c4b2
8:144407546 TOP1MT G>A	8	144407546	144407546	G	A	TOP1MT	c.347C>T	NM_001258446.1	NP_001245375.1:p.(Thr116Met)	NC_000008.10:g.144407546G>A	(Likely) benign	1 lab	5671c8d944
9:131864697 CRAT G>A	9	131864697	131864697	G	A	CRAT	c.549C>T	NM_001257363.2	NP_001244292.1:p.(Thr183=)	NC_000009.11:g.131864697G>A	(Likely) benign	1 lab	5672f56026
X:2873548 ARSL G>A	X	2873548	2873548	G	A	ARSL	c.291C>T	NM_001282628.1	NP_001269557.1:p.(Asp97=)	NC_000023.10:g.2873548G>A	(Likely) benign	1 lab	56736de672
20:33577632 MYH7B C>T	20	33577632	33577632	C	T	MYH7B	c.1803C>T	NM_020884.4	NP_065935.3:p.(His601=)	NC_000020.10:g.33577632C>T	(Likely) benign	1 lab	5673c126cf
17:33479924 UNC45B T>C	17	33479924	33479924	T	C	UNC45B	c.394T>C	NM_001033576.1	NP_001028748.1:p.(Phe132Leu)	NC_000017.10:g.33479924T>C	VUS	1 lab	567443dd8d
5:178585865 ADAMTS2 C>T	5	178585865	178585865	C	T	ADAMTS2	c.991G>A	NM_014244.4	NP_055059.2:p.(Glu331Lys)	NC_000005.9:g.178585865C>T	VUS	1 lab	56763d8fd0
16:70952311 HYDIN C>T	16	70952311	70952311	C	T	HYDIN	c.7807G>A	NM_001270974.2	NP_001257903.1:p.(Gly2603Ser)	NC_000016.9:g.70952311C>T	VUS	1 lab	5676891789
5:90059172 ADGRV1 A>G	5	90059172	90059172	A	G	ADGRV1	c.12171A>G	NM_032119.4	NP_115495.3:p.(Thr4057=)	NC_000005.9:g.90059172A>G	(Likely) benign	1 lab	5677c04910
19:56190030 EPN1 A>G	19	56190030	56190030	A	G	EPN1	c.370A>G	NM_001130071.1	NP_001123543.1:p.(Ile124Val)	NC_000019.9:g.56190030A>G	(Likely) benign	1 lab	5678bce089
19:45683150 BLOC1S3 G>A	19	45683150	45683150	G	A	BLOC1S3	c.596G>A	NM_212550.4	NP_997715.1:p.(Gly199Glu)	NC_000019.9:g.45683150G>A	VUS	1 lab	5678f2fb9d
1:982704 AGRN C>T	1	982704	982704	C	T	AGRN				NC_000001.10:g.982704C>T	(Likely) benign	1 lab	5679863039
8:62566184 ASPH G>A	8	62566184	62566184	G	A	ASPH	c.358C>T	NM_004318.3	NP_004309.2:p.(Pro120Ser)	NC_000008.10:g.62566184G>A	VUS	1 lab	567a99bee1
6:43484878 POLR1C C>T	6	43484878	43484878	C	T	POLR1C	c.31C>T	NM_001363658.1	NP_001350587.1:p.(Arg11Trp)	NC_000006.11:g.43484878C>T	VUS	1 lab	567ab92f38
16:2129165 TSC2 C>G	16	2129165	2129165	C	G	TSC2	c.3099C>G	NM_000548.3	NP_000539.2:p.(Tyr1033Ter)	NC_000016.9:g.2129165C>G	(Likely) pathogenic	1 lab	567bb659e8
1:26393918 TRIM63 C>T	1	26393918	26393918	C	T	TRIM63	c.68G>A	NM_032588.3	NP_115977.2:p.(Cys23Tyr)	NC_000001.10:g.26393918C>T	(Likely) pathogenic	1 lab	567c2d46a1
4:6302663 WFS1 C>T	4	6302663	6302663	C	T	WFS1	c.1141C>T	NM_006005.3	NP_005996.2:p.(Leu381=)	NC_000004.11:g.6302663C>T	(Likely) benign	1 lab	567e443529
3:132185236 DNAJC13 A>G	3	132185236	132185236	A	G	DNAJC13	c.2062A>G	NM_001329126.1	NP_001316055.1:p.(Met688Val)	NC_000003.11:g.132185236A>G	(Likely) benign	1 lab	567e7d1a91
6:152629757 SYNE1 A>G	6	152629757	152629757	A	G	SYNE1	c.17213T>C	NM_182961.3	NP_892006.3:p.(Val5738Ala)	NC_000006.11:g.152629757A>G	VUS	1 lab	567f42bea6
4:85707179 WDFY3 T>G	4	85707179	85707179	T	G	WDFY3	c.4015A>C	NM_014991.6	NP_055806.2:p.(Ile1339Leu)	NC_000004.11:g.85707179T>G	VUS	1 lab	f1ab0cf0d7
7:55221714 EGFR A>G	7	55221714	55221714	A	G	EGFR	c.758A>G	NM_005228.3	NP_005219.2:p.(Lys253Arg)	NC_000007.13:g.55221714A>G	(Likely) benign	1 lab	567fc6c991
5:74981202 POC5 T>C	5	74981202	74981202	T	C	POC5	c.1237A>G	NM_001099271.1	NP_001092741.1:p.(Thr413Ala)	NC_000005.9:g.74981202T>C	VUS	1 lab	567ff039c1
1:228464879 OBSCN G>A	1	228464879	228464879	G	A	OBSCN	c.7744G>A	NM_001271223.2	NP_001258152.2:p.(Ala2582Thr)	NC_000001.10:g.228464879G>A	VUS	1 lab	56802edcd3
14:89319303 TTC8 T>C	14	89319303	89319303	T	C	TTC8	c.625-12T>C	NM_144596.3	NP_653197.2:p.?	NC_000014.8:g.89319303T>C	(Likely) benign	1 lab	5683dfb2c6
11:72005439 CLPB T>A	11	72005439	72005439	T	A	CLPB	c.1565A>T	NM_001258394.2	NP_001245323.1:p.(Tyr522Phe)	NC_000011.9:g.72005439T>A	(Likely) benign	1 lab	5684633856
7:121716555 AASS T>C	7	121716555	121716555	T	C	AASS	c.2769A>G	NM_005763.3	NP_005754.2:p.(Thr923=)	NC_000007.13:g.121716555T>C	(Likely) benign	1 lab	56868e6955
4:152571641 FHIP1A G>A	4	152571641	152571641	G	A	FHIP1A	c.2448G>A	NM_001109977.3	NP_001103447.1:p.(Ala816=)	NC_000004.11:g.152571641G>A	(Likely) benign	1 lab	56878c6324
10:113924309 GPAM C>T	10	113924309	113924309	C	T	GPAM	c.1281G>A	NM_020918.5	NP_065969.3:p.(Ala427=)	NC_000010.10:g.113924309C>T	(Likely) benign	1 lab	5688953c53
13:23907679 SACS G>A	13	23907679	23907679	G	A	SACS	c.10336C>T	NM_014363.5	NP_055178.3:p.(Gln3446Ter)	NC_000013.10:g.23907679G>A	VUS	1 lab	5689bcfe12
X:5811290 NLGN4X G>A	X	5811290	5811290	G	A	NLGN4X	c.2019C>T	NM_001282145.1	NP_001269074.1:p.(Thr673=)	NC_000023.10:g.5811290G>A	(Likely) benign	1 lab	5689ce6637
1:89206890 PKN2 A>G	1	89206890	89206890	A	G	PKN2	c.268A>G	NM_006256.4	NP_006247.1:p.(Asn90Asp)	NC_000001.10:g.89206890A>G	VUS	1 lab	f1ab82f17c
9:133946909 LAMC3 G>A	9	133946909	133946909	G	A	LAMC3	c.3108G>A	NM_006059.3	NP_006050.3:p.(Gly1036=)	NC_000009.11:g.133946909G>A	(Likely) benign	1 lab	568b6aea6a
17:76137063 TMC8 C>A	17	76137063	76137063	C	A	TMC8	c.2051C>A	NM_152468.4	NP_689681.2:p.(Pro684Gln)	NC_000017.10:g.76137063C>A	VUS	1 lab	568ca5eb26
13:36202323 NBEA C>A	13	36202323	36202323	C	A	NBEA	c.7555C>A	NM_015678.4	NP_056493.3:p.(His2519Asn)	NC_000013.10:g.36202323C>A	(Likely) benign	1 lab	568f2c3d62
6:71011712 COL9A1 C>T	6	71011712	71011712	C	T	COL9A1	c.80G>A	NM_001851.4	NP_001842.3:p.(Arg27His)	NC_000006.11:g.71011712C>T	VUS	1 lab	568ff1aaf8
16:51171333 SALL1 G>A	16	51171333	51171333	G	A	SALL1	c.3665C>T	NM_002968.2	NP_002959.2:p.(Ala1222Val)	NC_000016.9:g.51171333G>A	VUS	1 lab	56906c579f
15:90191892 KIF7 G>C	15	90191892	90191892	G	C	KIF7	c.1037C>G	NM_198525.2	NP_940927.2:p.(Ala346Gly)	NC_000015.9:g.90191892G>C	VUS	1 lab	56907e8905
12:64173783 RXYLT1 C>T	12	64173783	64173783	C	T	RXYLT1	c.43C>T	NM_014254.2	NP_055069.1:p.(Leu15=)	NC_000012.11:g.64173783C>T	(Likely) benign	1 lab	5690b692af
17:41244217 BRCA1 G>A	17	41244217	41244217	G	A	BRCA1	c.3331C>T	NM_007294.4	NP_009225.1:p.(Gln1111Ter)	NC_000017.10:g.41244217G>A	(Likely) pathogenic	1 lab	f1b09b0f44
11:3040493 CARS1 C>T	11	3040493	3040493	C	T	CARS1	c.1271G>A	NM_001014437.2	NP_001014437.1:p.(Arg424His)	NC_000011.9:g.3040493C>T	(Likely) pathogenic	1 lab	56933572e8
17:19265863 B9D1 C>A	17	19265863	19265863	C	A	B9D1	c.20G>T	NM_015681.5	NP_056496.1:p.(Ser7Ile)	NC_000017.10:g.19265863C>A	VUS	1 lab	f1b290903c
8:38947707 ADAM9 A>C	8	38947707	38947707	A	C	ADAM9	c.2210A>C	NM_003816.2	NP_003807.1:p.(Glu737Ala)	NC_000008.10:g.38947707A>C	(Likely) benign	1 lab	5693cb5a9e
X:77276413 ATP7A C>A	X	77276413	77276413	C	A	ATP7A	c.2782-29C>A	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77276413C>A	(Likely) benign	1 lab	5694cce563
X:107084395 MID2 G>A	X	107084395	107084395	G	A	MID2	c.500G>A	NM_012216.3	NP_036348.2:p.(Arg167Gln)	NC_000023.10:g.107084395G>A	VUS	1 lab	5696b0d00e
6:100061674 PRDM13 G>A	6	100061674	100061674	G	A	PRDM13	c.1163G>A	NM_021620.3	NP_067633.2:p.(Gly388Asp)	NC_000006.11:g.100061674G>A	VUS	1 lab	5698de437a
17:79803766 P4HB T>C	17	79803766	79803766	T	C	P4HB	c.1158A>G	NM_000918.3	NP_000909.2:p.(Lys386=)	NC_000017.10:g.79803766T>C	(Likely) benign	1 lab	569a24da72
X:70356857 MED12 C>A	X	70356857	70356857	C	A	MED12	c.5529C>A	NM_005120.2	NP_005111.2:p.(Thr1843=)	NC_000023.10:g.70356857C>A	(Likely) benign	1 lab	569bf7834c
19:36387931 NFKBID AG>A	19	36387931	36387936	AG	A	NFKBID	c.461del	NM_139239.5	NP_640332.2:p.(Pro154LeufsTer88)	NC_000019.9:g.36387936del	VUS	1 lab	569c380157
9:135776235 TSC1 A>T	9	135776235	135776235	A	T	TSC1	c.2503-11T>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135776235A>T	VUS	1 lab	569ddc2c75
11:722405 EPS8L2 T>G	11	722405	722405	T	G	EPS8L2	c.1064T>G	NM_022772.3	NP_073609.2:p.(Val355Gly)	NC_000011.9:g.722405T>G	VUS	1 lab	569e03d7f8
22:38167706 TRIOBP T>C	22	38167706	38167706	T	C	TRIOBP	c.6899T>C	NM_001039141.2	NP_001034230.1:p.(Val2300Ala)	NC_000022.10:g.38167706T>C	(Likely) benign	1 lab	569f1f1013
11:103043984 DYNC2H1 A>G	11	103043984	103043984	A	G	DYNC2H1	c.5508A>G	NM_001080463.1	NP_001073932.1:p.(Lys1836=)	NC_000011.9:g.103043984A>G	(Likely) benign	1 lab	569f4b357b
10:73575003 CDH23 A>C	10	73575003	73575003	A	C	CDH23	c.10033A>C	NM_022124.5	NP_071407.4:p.(Met3345Leu)	NC_000010.10:g.73575003A>C	(Likely) benign	1 lab	56a2080e5b
X:100243202 ARL13A T>C	X	100243202	100243202	T	C	ARL13A	c.674T>C	NM_001162491.1	NP_001155963.1:p.(Met225Thr)	NC_000023.10:g.100243202T>C	(Likely) benign	1 lab	56a283c704
2:179255898 OSBPL6 A>T	2	179255898	179255898	A	T	OSBPL6	c.2400A>T	NM_032523.4	NP_115912.1:p.(Gly800=)	NC_000002.11:g.179255898A>T	(Likely) benign	1 lab	56a2b98ddd
8:10677747 PINX1 G>A	8	10677747	10677747	G	A	PINX1	c.427C>T	NM_017884.6	NP_060354.4:p.(Leu143Phe)	NC_000008.10:g.10677747G>A	VUS	1 lab	56a3caa314
16:88504199 ZNF469 C>G	16	88504199	88504199	C	G	ZNF469				NC_000016.9:g.88504199C>G	(Likely) benign	1 lab	56a3fbb4dd
X:140984734 MAGEC3 A>C	X	140984734	140984734	A	C	MAGEC3	c.1190A>C	NM_138702.1	NP_619647.1:p.(Gln397Pro)	NC_000023.10:g.140984734A>C	(Likely) benign	1 lab	56a4432d2c
10:73498332 CDH23 C>T	10	73498332	73498332	C	T	CDH23	c.4287C>T	NM_022124.5	NP_071407.4:p.(Pro1429=)	NC_000010.10:g.73498332C>T	(Likely) benign	1 lab	56a4444126
20:3870254 PANK2 C>T	20	3870254	3870254	C	T	PANK2	c.507C>T	NM_153638.2	NP_705902.2:p.(Ser169=)	NC_000020.10:g.3870254C>T	(Likely) benign	1 lab	56a5242835
17:78032677 CCDC40 C>T	17	78032677	78032677	C	T	CCDC40	c.1338C>T	NM_017950.3	NP_060420.2:p.(Leu446=)	NC_000017.10:g.78032677C>T	(Likely) benign	1 lab	56a5537b28
2:228169758 COL4A3 C>T	2	228169758	228169758	C	T	COL4A3	c.4211C>T	NM_000091.4	NP_000082.2:p.(Pro1404Leu)	NC_000002.11:g.228169758C>T	VUS	1 lab	56a778536e
22:51117800 MISSING G>A	22	51117800	51117800	G	A	MISSING				NC_000022.10:g.51117800G>A	(Likely) benign	1 lab	69f4c4474f
4:437169 ZNF721 A>G	4	437169	437169	A	G	ZNF721	c.1087T>C	NM_133474.4	NP_597731.2:p.(Cys363Arg)	NC_000004.11:g.437169A>G	VUS	1 lab	56aa1425cf
19:7615521 PNPLA6 G>A	19	7615521	7615521	G	A	PNPLA6	c.2092G>A	NM_001166111.1	NP_001159583.1:p.(Gly698Ser)	NC_000019.9:g.7615521G>A	VUS	1 lab	56aab35d2e
19:6682162 C3 G>A	19	6682162	6682162	G	A	C3	c.4251C>T	NM_000064.2	NP_000055.2:p.(Asp1417=)	NC_000019.9:g.6682162G>A	(Likely) benign	1 lab	56ab071f55
10:85955266 CDHR1 C>A	10	85955266	85955266	C	A	CDHR1	c.72C>A	NM_033100.4	NP_149091.1:p.(Ala24=)	NC_000010.10:g.85955266C>A	(Likely) benign	1 lab	56ad0efe5d
1:236141202 NID1 T>C	1	236141202	236141202	T	C	NID1	c.3709A>G	NM_002508.2	NP_002499.2:p.(Asn1237Asp)	NC_000001.10:g.236141202T>C	(Likely) benign	1 lab	56ae3c4e41
1:58999915 OMA1 C>T	1	58999915	58999915	C	T	OMA1	c.818G>A	NM_145243.5	NP_660286.1:p.(Cys273Tyr)	NC_000001.10:g.58999915C>T	VUS	1 lab	56ae8ae1a5
12:121790012 ANAPC5 C>T	12	121790012	121790012	C	T	ANAPC5	c.132G>A	NM_016237.5	NP_057321.2:p.(Met44Ile)	NC_000012.11:g.121790012C>T	(Likely) benign	1 lab	56aecdeca8
18:34267147 FHOD3 T>C	18	34267147	34267147	T	C	FHOD3	c.2021+6T>C	NM_001281740.2	NP_001268669.1:p.?	NC_000018.9:g.34267147T>C	(Likely) benign	1 lab	56af06e6c8
7:92735316 SAMD9 T>A	7	92735316	92735316	T	A	SAMD9	c.95A>T	NM_017654.3	NP_060124.2:p.(His32Leu)	NC_000007.13:g.92735316T>A	(Likely) benign	1 lab	56afcc52f8
11:55371131 OR4C11 G>A	11	55371131	55371131	G	A	OR4C11	c.719C>T	NM_001004700.2	NP_001004700.2:p.(Ser240Phe)	NC_000011.9:g.55371131G>A	VUS	1 lab	56b0b71ae3
7:152007113 KMT2C A>C	7	152007113	152007113	A	C	KMT2C	c.787T>G	NM_170606.2	NP_733751.2:p.(Cys263Gly)	NC_000007.13:g.152007113A>C	VUS	1 lab	56b0f60262
19:29699003 UQCRFS1 G>A	19	29699003	29699003	G	A	UQCRFS1	c.277C>T	NM_006003.3	NP_005994.2:p.(Arg93Cys)	NC_000019.9:g.29699003G>A	VUS	1 lab	56b1b60f66
X:8138100 VCX2 A>G	X	8138100	8138100	A	G	VCX2	c.393T>C	NM_016378.3	NP_057462.2:p.(Phe131=)	NC_000023.10:g.8138100A>G	(Likely) benign	1 lab	56b1c0fb8e
9:2039791 SMARCA2 G>A	9	2039791	2039791	G	A	SMARCA2	c.681G>A	NM_003070.4	NP_003061.3:p.(Gln227=)	NC_000009.11:g.2039791G>A	(Likely) benign	1 lab	56b44fe7db
4:183609435 TENM3 G>A	4	183609435	183609435	G	A	TENM3	c.2152G>A	NM_001080477.3	NP_001073946.1:p.(Glu718Lys)	NC_000004.11:g.183609435G>A	VUS	1 lab	56b49588a7
14:74206611 MIDEAS G>C	14	74206611	74206611	G	C	MIDEAS	c.101C>G	NM_194278.3	NP_919254.2:p.(Pro34Arg)	NC_000014.8:g.74206611G>C	(Likely) benign	1 lab	56b6a1178f
2:31751293 SRD5A2 C>T	2	31751293	31751293	C	T	SRD5A2	c.738G>A	NM_000348.3	NP_000339.2:p.(Arg246=)	NC_000002.11:g.31751293C>T	(Likely) pathogenic	1 lab	56b9d08401
3:10183724 VHL T>C	3	10183724	10183724	T	C	VHL	c.193T>C	NM_000551.3	NP_000542.1:p.(Ser65Pro)	NC_000003.11:g.10183724T>C	(Likely) pathogenic	1 lab	56b9d455bc
X:74282154 ABCB7 A>G	X	74282154	74282154	A	G	ABCB7	c.1938+9T>C	NM_004299.6	NP_004290.2:p.?	NC_000023.10:g.74282154A>G	(Likely) benign	1 lab	56bb3f9b92
11:6662674 DCHS1 C>T	11	6662674	6662674	C	T	DCHS1				NC_000011.9:g.6662674C>T	VUS	1 lab	56bccf0922
18:72347547 ZNF407 T>G	18	72347547	72347547	T	G	ZNF407	c.4572T>G	NM_017757.2	NP_060227.2:p.(Thr1524=)	NC_000018.9:g.72347547T>G	(Likely) benign	1 lab	56bd27b56c
10:128358919 C10orf90 A>T	10	128358919	128358919	A	T	C10orf90	c.131T>A	NM_001350921.1	NP_001337850.1:p.(Met44Lys)	NC_000010.10:g.128358919A>T	VUS	1 lab	56bd9ec924
7:40041541 CDK13 T>A	7	40041541	40041541	T	A	CDK13	c.2264T>A	NM_003718.5	NP_003709.3:p.(Ile755Asn)	NC_000007.13:g.40041541T>A	(Likely) pathogenic	1 lab	f1c117b301
X:70329176 IL2RG G>A	X	70329176	70329176	G	A	IL2RG	c.659C>T	NM_000206.2	NP_000197.1:p.(Thr220Met)	NC_000023.10:g.70329176G>A	VUS	1 lab	56c01d432d
3:180372740 CCDC39 T>C	3	180372740	180372740	T	C	CCDC39	c.740A>G	NM_181426.2	NP_852091.1:p.(Glu247Gly)	NC_000003.11:g.180372740T>C	VUS	1 lab	56c3019c85
6:72892274 RIMS1 A>C	6	72892274	72892274	A	C	RIMS1	c.1100A>C	NM_014989.5	NP_055804.2:p.(Lys367Thr)	NC_000006.11:g.72892274A>C	(Likely) benign	1 lab	56c3e310e8
2:86385852 IMMT A>G	2	86385852	86385852	A	G	IMMT	c.1033-8T>C	NM_006839.2	NP_006830.2:p.?	NC_000002.11:g.86385852A>G	(Likely) benign	1 lab	56c4d25e9a
17:60637435 TLK2 A>G	17	60637435	60637435	A	G	TLK2	c.779A>G	NM_006852.3	NP_006843.2:p.(Lys260Arg)	NC_000017.10:g.60637435A>G	VUS	1 lab	56c4f6cfd4
X:71349791 RTL5 G>A	X	71349791	71349791	G	A	RTL5	c.1600C>T	NM_001024455.3	NP_001019626.1:p.(Arg534Cys)	NC_000023.10:g.71349791G>A	(Likely) benign	1 lab	56c5a9608b
X:43515637 MAOA A>T	X	43515637	43515637	A	T	MAOA	c.48A>T	NM_000240.3	NP_000231.1:p.(Val16=)	NC_000023.10:g.43515637A>T	(Likely) benign	1 lab	56c7c85330
19:45900289 PPP1R13L G>C	19	45900289	45900289	G	C	PPP1R13L	c.226C>G	NM_006663.4	NP_006654.2:p.(Pro76Ala)	NC_000019.9:g.45900289G>C	(Likely) benign	1 lab	56c83ade3c
1:9416641 SPSB1 G>A	1	9416641	9416641	G	A	SPSB1	c.691G>A	NM_025106.4	NP_079382.2:p.(Asp231Asn)	NC_000001.10:g.9416641G>A	VUS	1 lab	f1c165ee92
7:73664114 RFC2 C>T	7	73664114	73664114	C	T	RFC2	c.184-4G>A	NM_181471.3	NP_852136.1:p.?	NC_000007.13:g.73664114C>T	(Likely) benign	1 lab	f1c1bdc9dc
X:84510752 ZNF711 A>AGAT	X	84510752	84510771	A	AGAT	ZNF711	c.584_586dup	NM_021998.4	NP_068838.3:p.(Asp195dup)	NC_000023.10:g.84510769_84510771dup	(Likely) benign	1 lab	56cc86162b
X:102338419 NXF3 T>G	X	102338419	102338419	T	G	NXF3	c.447A>C	NM_022052.1	NP_071335.1:p.(Glu149Asp)	NC_000023.10:g.102338419T>G	(Likely) benign	1 lab	56cca6fa57
16:23649273 PALB2 G>A	16	23649273	23649273	G	A	PALB2	c.109C>T	NM_024675.4	NP_078951.2:p.(Arg37Cys)	NC_000016.9:g.23649273G>A	VUS	1 lab	f1c23094cb
16:88713501 CYBA A>G	16	88713501	88713501	A	G	CYBA	c.203+8T>C	NM_000101.4	NP_000092.2:p.?	NC_000016.9:g.88713501A>G	(Likely) benign	1 lab	f1c2fe31b7
15:38643311 SPRED1 T>G	15	38643311	38643311	T	G	SPRED1	c.781T>G	NM_152594.2	NP_689807.1:p.(Tyr261Asp)	NC_000015.9:g.38643311T>G	(Likely) pathogenic	1 lab	56d089014d
17:41244567 BRCA1 C>T	17	41244567	41244567	C	T	BRCA1	c.2981G>A	NM_007294.3	NP_009225.1:p.(Cys994Tyr)	NC_000017.10:g.41244567C>T	(Likely) benign	1 lab	56d0c02c1d
11:64972339 CAPN1 G>A	11	64972339	64972339	G	A	CAPN1	c.1341+10G>A	NM_001198868.1	NP_001185797.1:p.?	NC_000011.9:g.64972339G>A	(Likely) benign	1 lab	56d1237c2d
9:91616917 S1PR3 G>T	9	91616917	91616917	G	T	S1PR3	c.802G>T	NM_005226.4	NP_005217.2:p.(Ala268Ser)	NC_000009.11:g.91616917G>T	VUS	1 lab	56d1fc5172
X:13337497 ATXN3L A>G	X	13337497	13337497	A	G	ATXN3L	c.557T>C	NM_001135995.1	NP_001129467.1:p.(Met186Thr)	NC_000023.10:g.13337497A>G	(Likely) benign	1 lab	56d2115794
4:144258385 GAB1 C>T	4	144258385	144258385	C	T	GAB1	c.44C>T	NM_207123.2	NP_997006.1:p.(Ser15Phe)	NC_000004.11:g.144258385C>T	VUS	1 lab	56d2252071
12:58121792 AGAP2 C>G	12	58121792	58121792	C	G	AGAP2	c.2694G>C	NM_001122772.2	NP_001116244.1:p.(Arg898=)	NC_000012.11:g.58121792C>G	(Likely) benign	1 lab	56d5d756e1
5:127681204 FBN2 C>T	5	127681204	127681204	C	T	FBN2	c.3062G>A	NM_001999.3	NP_001990.2:p.(Arg1021His)	NC_000005.9:g.127681204C>T	VUS	1 lab	56d6e85b28
X:1422249 CSF2RA C>A	X	1422249	1422249	C	A	CSF2RA	c.1042C>A	NM_001161530.1	NP_001155002.1:p.(Leu348Ile)	NC_000023.10:g.1422249C>A	(Likely) benign	1 lab	56d7d09334
10:21074754 NEBL A>G	10	21074754	21074754	A	G	NEBL	c.2967T>C	NM_006393.2	NP_006384.1:p.(Asp989=)	NC_000010.10:g.21074754A>G	(Likely) benign	1 lab	56d81a1440
X:77912567 RTL3 G>A	X	77912567	77912567	G	A	RTL3	c.1351C>T	NM_152694.2	NP_689907.1:p.(Pro451Ser)	NC_000023.10:g.77912567G>A	(Likely) benign	1 lab	56daa3b22c
3:50416556 CACNA2D2 G>A	3	50416556	50416556	G	A	CACNA2D2	c.1227C>T	NM_001174051.2	NP_001167522.1:p.(Asp409=)	NC_000003.11:g.50416556G>A	(Likely) benign	1 lab	56dbf6a40e
6:87969170 ZNF292 A>G	6	87969170	87969170	A	G	ZNF292	c.5823A>G	NM_015021.2	NP_055836.1:p.(Gln1941=)	NC_000006.11:g.87969170A>G	(Likely) benign	1 lab	56dd04644c
7:150883742 ASB10 G>C	7	150883742	150883742	G	C	ASB10	c.321C>G	NM_001142460.1	NP_001135932.2:p.(Leu107=)	NC_000007.13:g.150883742G>C	(Likely) benign	1 lab	56e15020b3
9:123156851 CDK5RAP2 C>T	9	123156851	123156851	C	T	CDK5RAP2	c.5517G>A	NM_018249.5	NP_060719.4:p.(Leu1839=)	NC_000009.11:g.123156851C>T	(Likely) benign	1 lab	56e16c42a5
1:22974076 C1QC G>A	1	22974076	22974076	G	A	C1QC	c.538G>A	NM_001347619.1	NP_001334548.1:p.(Val180Met)	NC_000001.10:g.22974076G>A	VUS	1 lab	56e1bce8f3
21:33044360 SCAF4 C>A	21	33044360	33044360	C	A	SCAF4	c.2796G>T	NM_020706.2	NP_065757.1:p.(Gly932=)	NC_000021.8:g.33044360C>A	(Likely) benign	1 lab	56e553e823
15:69007569 CORO2B C>T	15	69007569	69007569	C	T	CORO2B	c.871C>T	NM_001190457.1	NP_001177386.1:p.(Arg291Trp)	NC_000015.9:g.69007569C>T	VUS	1 lab	56e583191f
15:31369151 TRPM1 G>A	15	31369151	31369151	G	A	TRPM1	c.91C>T	NM_001252020.1	NP_001238949.1:p.(Arg31Trp)	NC_000015.9:g.31369151G>A	VUS	1 lab	56e5cf0ca6
12:48249571 VDR C>T	12	48249571	48249571	C	T	VDR	c.747G>A	NM_001017536.1	NP_001017536.1:p.(Ser249=)	NC_000012.11:g.48249571C>T	(Likely) benign	1 lab	56e65a78d4
13:103301792 TPP2 G>A	13	103301792	103301792	G	A	TPP2	c.2908G>A	NM_001367947.1	NP_001354876.1:p.(Ala970Thr)	NC_000013.10:g.103301792G>A	(Likely) benign	1 lab	56e67e66b3
17:29657444 NF1 A>G	17	29657444	29657444	A	G	NF1	c.5677A>G	NM_000267.3	NP_000258.1:p.(Thr1893Ala)	NC_000017.10:g.29657444A>G	(Likely) pathogenic	1 lab	56e867cb79
11:67816353 TCIRG1 G>A	11	67816353	67816353	G	A	TCIRG1	c.668G>A	NM_001351059.1	NP_001337988.1:p.(Ser223Asn)	NC_000011.9:g.67816353G>A	VUS	1 lab	56e86f8c81
6:7231521 RREB1 C>T	6	7231521	7231521	C	T	RREB1	c.3189C>T	NM_001003699.4	NP_001003699.1:p.(Pro1063=)	NC_000006.11:g.7231521C>T	(Likely) benign	1 lab	56e9d77d85
X:108619326 GUCY2F G>T	X	108619326	108619326	G	T	GUCY2F	c.3221C>A	NM_001522.2	NP_001513.2:p.(Pro1074Gln)	NC_000023.10:g.108619326G>T	VUS	1 lab	56e9ede8db
1:63902478 ALG6 C>CT	1	63902478	63902485	C	CT	ALG6	c.1327-9dup	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63902485dup	(Likely) benign	1 lab	f1caed730e
1:211840492 NEK2 C>A	1	211840492	211840492	C	A	NEK2	c.1067G>T	NM_002497.4	NP_002488.1:p.(Ser356Ile)	NC_000001.10:g.211840492C>A	VUS	1 lab	56ec5d7b4f
7:35289602 TBX20 T>C	7	35289602	35289602	T	C	TBX20	c.341A>G	NM_001077653.2	NP_001071121.1:p.(His114Arg)	NC_000007.13:g.35289602T>C	VUS	1 lab	56efb29728
17:29556485 NF1 T>C	17	29556485	29556485	T	C	NF1	c.2850+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556485T>C	(Likely) pathogenic	1 lab	56efcba7a1
17:5487268 NLRP1 C>T	17	5487268	5487268	C	T	NLRP1	c.10G>A	NM_033004.4	NP_127497.1:p.(Gly4Arg)	NC_000017.10:g.5487268C>T	(Likely) benign	1 lab	56f006d441
17:78359407 RNF213 C>T	17	78359407	78359407	C	T	RNF213	c.14525C>T	NM_001256071.2	NP_001243000.2:p.(Ser4842Leu)	NC_000017.10:g.78359407C>T	VUS	1 lab	56f0774100
8:28608342 EXTL3 C>T	8	28608342	28608342	C	T	EXTL3	c.2719C>T	NM_001440.3	NP_001431.1:p.(Arg907Cys)	NC_000008.10:g.28608342C>T	VUS	1 lab	56f11c9795
8:95879376 INTS8 C>T	8	95879376	95879376	C	T	INTS8	c.2304C>T	NM_017864.3	NP_060334.2:p.(Leu768=)	NC_000008.10:g.95879376C>T	(Likely) benign	1 lab	56f1bfe7b8
8:144239752 LY6H G>A	8	144239752	144239752	G	A	LY6H	c.401C>T	NM_001130478.1	NP_001123950.1:p.(Ala134Val)	NC_000008.10:g.144239752G>A	(Likely) benign	1 lab	56f26d1b6a
18:2920820 LPIN2 G>C	18	2920820	2920820	G	C	LPIN2	c.2502C>G	NM_014646.2	NP_055461.1:p.(Pro834=)	NC_000018.9:g.2920820G>C	(Likely) benign	1 lab	56f378cf8f
6:56362732 DST C>T	6	56362732	56362732	C	T	DST	c.13659G>A	NM_001144769.2	NP_001138241.1:p.(Glu4553=)	NC_000006.11:g.56362732C>T	(Likely) benign	1 lab	56f4dd7022
X:18622455 CDKL5 GAC>G	X	18622455	18622460	GAC	G	CDKL5	c.1415_1416del	NM_001323289.2	NP_001310218.1:p.(Thr472AsnfsTer6)	NC_000023.10:g.18622459_18622460del	(Likely) pathogenic	1 lab	56f6fe523b
20:10625904 JAG1 CCTGGAGGAAAA>C	20	10625904	10625915	CCTGGAGGAAAA	C	JAG1	c.2114-11_2114-1del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625905_10625915del	(Likely) pathogenic	1 lab	56f8608372
1:152281158 FLG A>T	1	152281158	152281158	A	T	FLG	c.6204T>A	NM_002016.1	NP_002007.1:p.(His2068Gln)	NC_000001.10:g.152281158A>T	(Likely) benign	1 lab	56fa8cf379
11:17531044 USH1C C>T	11	17531044	17531044	C	T	USH1C	c.1872G>A	NM_153676.3	NP_710142.1:p.(Ser624=)	NC_000011.9:g.17531044C>T	(Likely) benign	1 lab	56fae9d26f
6:7580069 DSP A>G	6	7580069	7580069	A	G	DSP	c.3646A>G	NM_004415.2	NP_004406.2:p.(Ile1216Val)	NC_000006.11:g.7580069A>G	(Likely) benign	1 lab	56ff3eb392
17:38978536 KRT10 A>C	17	38978536	38978536	A	C	KRT10	c.302T>G	NM_000421.5	NP_000412.4:p.(Ile101Ser)	NC_000017.10:g.38978536A>C	(Likely) benign	1 lab	f1cb4e1303
4:13545656 NKX3-2 G>C	4	13545656	13545656	G	C	NKX3-2	c.383C>G	NM_001189.3	NP_001180.1:p.(Pro128Arg)	NC_000004.11:g.13545656G>C	VUS	1 lab	570250fd73
16:23641269 PALB2 C>T	16	23641269	23641269	C	T	PALB2	c.2206G>A	NM_024675.4	NP_078951.2:p.(Ala736Thr)	NC_000016.9:g.23641269C>T	(Likely) benign	1 lab	f1cb7a4e0c
16:2156252 PKD1 G>A	16	2156252	2156252	G	A	PKD1	c.7543C>T	NM_001009944.2	NP_001009944.2:p.(Arg2515Trp)	NC_000016.9:g.2156252G>A	(Likely) benign	1 lab	5703690b4a
16:2547124 TBC1D24 C>T	16	2547124	2547124	C	T	TBC1D24	c.965+10C>T	NM_001199107.1	NP_001186036.1:p.?	NC_000016.9:g.2547124C>T	(Likely) benign	1 lab	570476d7e4
1:214816400 CENPF A>C	1	214816400	214816400	A	C	CENPF	c.4719A>C	NM_016343.3	NP_057427.3:p.(Gln1573His)	NC_000001.10:g.214816400A>C	VUS	1 lab	570477de46
10:85974164 CDHR1 G>A	10	85974164	85974164	G	A	CDHR1	c.2367G>A	NM_033100.4	NP_149091.1:p.(Pro789=)	NC_000010.10:g.85974164G>A	(Likely) benign	1 lab	57070e9fdb
9:135781448 TSC1 GGA>G	9	135781448	135781453	GGA	G	TSC1	c.1515_1516del	NM_000368.5	NP_000359.1:p.(Pro506LeufsTer28)	NC_000009.11:g.135781452_135781453del	(Likely) pathogenic	1 lab	5707809ee8
X:19009068 ADGRG2 T>C	X	19009068	19009068	T	C	ADGRG2	c.2968A>G	NM_001079858.2	NP_001073327.1:p.(Lys990Glu)	NC_000023.10:g.19009068T>C	VUS	1 lab	570874f316
7:27135022 HOXA1 G>A	7	27135022	27135022	G	A	HOXA1	c.510C>T	NM_005522.4	NP_005513.1:p.(Ser170=)	NC_000007.13:g.27135022G>A	(Likely) benign	1 lab	57094a9ae7
19:9049127 MUC16 A>G	19	9049127	9049127	A	G	MUC16	c.32504T>C	NM_024690.2	NP_078966.2:p.(Val10835Ala)	NC_000019.9:g.9049127A>G	(Likely) benign	1 lab	570965cd08
4:15572028 CC2D2A G>A	4	15572028	15572028	G	A	CC2D2A	c.3503G>A	NM_001080522.2	NP_001073991.2:p.(Arg1168His)	NC_000004.11:g.15572028G>A	VUS	1 lab	5709f15be8
19:45920087 ERCC1 G>A	19	45920087	45920087	G	A	ERCC1	c.594C>T	NM_001983.3	NP_001974.1:p.(Leu198=)	NC_000019.9:g.45920087G>A	(Likely) benign	1 lab	570af1b399
18:61468141 SERPINB7 GT>G	18	61468141	61468143	GT	G	SERPINB7	c.641del	NM_003784.4	NP_003775.1:p.(Phe214SerfsTer11)	NC_000018.9:g.61468143del	VUS	1 lab	570b13cf09
16:2546466 TBC1D24 T>C	16	2546466	2546466	T	C	TBC1D24	c.317T>C	NM_001199107.1	NP_001186036.1:p.(Leu106Pro)	NC_000016.9:g.2546466T>C	VUS	1 lab	570b814fc3
X:17744061 NHS C>T	X	17744061	17744061	C	T	NHS	c.1835C>T	NM_001291867.1	NP_001278796.1:p.(Thr612Met)	NC_000023.10:g.17744061C>T	VUS	1 lab	570fa5ebe7
6:157470090 ARID1B G>A	6	157470090	157470090	G	A	ARID1B	c.3128+5G>A	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157470090G>A	(Likely) benign	1 lab	f1cee10e6a
7:105142896 PUS7 T>A	7	105142896	105142896	T	A	PUS7	c.701A>T	NM_019042.5	NP_061915.2:p.(Tyr234Phe)	NC_000007.13:g.105142896T>A	(Likely) benign	1 lab	57111d25d7
15:66995991 SMAD6 G>T	15	66995991	66995991	G	T	SMAD6	c.395G>T	NM_005585.4	NP_005576.3:p.(Arg132Leu)	NC_000015.9:g.66995991G>T	VUS	1 lab	5711cfdc0c
14:90429743 TDP1 G>T	14	90429743	90429743	G	T	TDP1	c.285G>T	NM_018319.3	NP_060789.2:p.(Glu95Asp)	NC_000014.8:g.90429743G>T	(Likely) benign	1 lab	57141f8fd5
19:50365292 PNKP TG>T	19	50365292	50365294	TG	T	PNKP	c.1188+8del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50365294del	(Likely) benign	1 lab	57143f591c
8:145006590 PLEC G>A	8	145006590	145006590	G	A	PLEC	c.2036C>T	NM_000445.5	NP_000436.2:p.(Thr679Ile)	NC_000008.10:g.145006590G>A	(Likely) benign	1 lab	f1d050f22c
1:38397630 INPP5B T>TA	1	38397630	38397631	T	TA	INPP5B	c.486dup	NM_005540.3	NP_005531.2:p.(Asn163Ter)	NC_000001.10:g.38397631dup	VUS	1 lab	5716931f1a
12:53186522 KRT3 G>A	12	53186522	53186522	G	A	KRT3	c.996C>T	NM_057088.2	NP_476429.2:p.(Ile332=)	NC_000012.11:g.53186522G>A	(Likely) benign	1 lab	5717fb5032
17:39780753 KRT17 G>A	17	39780753	39780753	G	A	KRT17	c.9C>T	NM_000422.3	NP_000413.1:p.(Thr3=)	NC_000017.10:g.39780753G>A	(Likely) benign	1 lab	5718aa2c09
3:30713705 TGFBR2 TGGGAGG>T	3	30713705	30713711	TGGGAGG	T	TGFBR2	c.1031_1036del	NM_003242.6	NP_003233.4:p.(Trp344_Asp346delinsTyr)	NC_000003.11:g.30713706_30713711del	(Likely) pathogenic	1 lab	571b8ee34c
2:48032819 MSH6 C>G	2	48032819	48032819	C	G	MSH6	c.3619C>G	NM_000179.2	NP_000170.1:p.(His1207Asp)	NC_000002.11:g.48032819C>G	VUS	1 lab	571e57ec35
7:116418932 MET G>T	7	116418932	116418932	G	T	MET	c.3497G>T	NM_001127500.1	NP_001120972.1:p.(Arg1166Leu)	NC_000007.13:g.116418932G>T	(Likely) benign	1 lab	571fc3e986
6:157454223 ARID1B ACCATCCATGT>A	6	157454223	157454234	ACCATCCATGT	A	ARID1B	c.2645_2654del	NM_001374828.1	NP_001361757.1:p.(Pro882ArgfsTer30)	NC_000006.11:g.157454225_157454234del	(Likely) pathogenic	1 lab	572155bcab
X:1719878 AKAP17A C>T	X	1719878	1719878	C	T	AKAP17A	c.1479C>T	NM_005088.2	NP_005079.2:p.(Ala493=)	NC_000023.10:g.1719878C>T	(Likely) benign	1 lab	5721eaf2eb
16:57994799 CNGB1 A>G	16	57994799	57994799	A	G	CNGB1	c.479T>C	NM_001297.4	NP_001288.3:p.(Leu160Pro)	NC_000016.9:g.57994799A>G	VUS	1 lab	5721fdf7bf
16:88930701 PABPN1L G>C	16	88930701	88930701	G	C	PABPN1L	c.653C>G	NM_001294328.1	NP_001281257.1:p.(Pro218Arg)	NC_000016.9:g.88930701G>C	VUS	1 lab	5723ff31e6
X:132670312 GPC3 T>G	X	132670312	132670312	T	G	GPC3	c.1652A>C	NM_001164617.1	NP_001158089.1:p.(Tyr551Ser)	NC_000023.10:g.132670312T>G	VUS	1 lab	5724d1ceb3
1:94512516 ABCA4 G>A	1	94512516	94512516	G	A	ABCA4	c.2877C>T	NM_000350.2	NP_000341.2:p.(Thr959=)	NC_000001.10:g.94512516G>A	(Likely) benign	1 lab	57252e94dd
19:50826917 KCNC3 G>A	19	50826917	50826917	G	A	KCNC3	c.1293C>T	NM_004977.2	NP_004968.2:p.(Phe431=)	NC_000019.9:g.50826917G>A	(Likely) benign	1 lab	5725bda7aa
12:57975245 KIF5A C>T	12	57975245	57975245	C	T	KIF5A	c.2803C>T	NM_004984.3	NP_004975.2:p.(Pro935Ser)	NC_000012.11:g.57975245C>T	(Likely) benign	1 lab	5726c42f30
X:135827409 ARHGEF6 T>C	X	135827409	135827409	T	C	ARHGEF6	c.432A>G	NM_004840.2	NP_004831.1:p.(Ser144=)	NC_000023.10:g.135827409T>C	(Likely) benign	1 lab	5727db0461
13:110826801 COL4A1 C>A	13	110826801	110826801	C	A	COL4A1	c.3398G>T	NM_001845.5	NP_001836.3:p.(Gly1133Val)	NC_000013.10:g.110826801C>A	(Likely) pathogenic	1 lab	5727e21ab1
8:6479205 MCPH1 G>A	8	6479205	6479205	G	A	MCPH1	c.2445G>A	NM_024596.4	NP_078872.2:p.(Trp815Ter)	NC_000008.10:g.6479205G>A	(Likely) pathogenic	1 lab	572830e09b
2:179397627 TTN TTA>G	2	179397627	179397629	TTA	G	TTN	c.103713_103715delinsC	NM_001267550.1	NP_001254479.1:p.(Lys34573AspfsTer3)	NC_000002.11:g.179397627_179397629delinsG	(Likely) pathogenic	1 lab	57284a1e02
16:2122947 TSC2 T>G	16	2122947	2122947	T	G	TSC2	c.2318T>G	NM_000548.3	NP_000539.2:p.(Leu773Ter)	NC_000016.9:g.2122947T>G	(Likely) pathogenic	1 lab	572874609f
3:20164219 KAT2B A>ATTC	3	20164219	20164221	A	ATTC	KAT2B	c.1337_1338insTCT	NM_003884.5	NP_003875.3:p.(Met446delinsIleLeu)	NC_000003.11:g.20164220_20164221insTCT	VUS	1 lab	5728ed503f
6:152462480 SYNE1 C>A	6	152462480	152462480	C	A	SYNE1	c.25120-16G>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152462480C>A	(Likely) benign	1 lab	572a4d4f48
18:21427525 LAMA3 C>T	18	21427525	21427525	C	T	LAMA3	c.4029C>T	NM_198129.2	NP_937762.2:p.(His1343=)	NC_000018.9:g.21427525C>T	(Likely) benign	1 lab	572bad9230
22:35719875 TOM1 G>A	22	35719875	35719875	G	A	TOM1	c.616G>A	NM_001135732.1	NP_001129204.1:p.(Gly206Ser)	NC_000022.10:g.35719875G>A	(Likely) benign	1 lab	572bfb33eb
3:8775682 CAV3 C>T	3	8775682	8775682	C	T	CAV3	c.114+6C>T	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8775682C>T	(Likely) benign	1 lab	572d2adeca
17:29576122 NF1 C>A	17	29576122	29576122	C	A	NF1	c.4095C>A	NM_000267.3	NP_000258.1:p.(Cys1365Ter)	NC_000017.10:g.29576122C>A	(Likely) pathogenic	1 lab	572d374247
5:40959549 C7 A>T	5	40959549	40959549	A	T	C7	c.1490-2A>T	NM_000587.2	NP_000578.2:p.?	NC_000005.9:g.40959549A>T	(Likely) pathogenic	1 lab	572e6cb536
7:87035755 ABCB4 A>T	7	87035755	87035755	A	T	ABCB4	c.3356T>A	NM_018849.2	NP_061337.1:p.(Leu1119His)	NC_000007.13:g.87035755A>T	VUS	1 lab	572e7c136b
17:5421192 NLRP1 A>T	17	5421192	5421192	A	T	NLRP1	c.3931T>A	NM_033004.4	NP_127497.1:p.(Tyr1311Asn)	NC_000017.10:g.5421192A>T	VUS	1 lab	f1d68f7aed
4:122754476 BBS7 G>C	4	122754476	122754476	G	C	BBS7	c.1586C>G	NM_176824.3	NP_789794.1:p.(Pro529Arg)	NC_000004.11:g.122754476G>C	VUS	1 lab	f1e0bd1338
1:152280509 FLG G>A	1	152280509	152280509	G	A	FLG	c.6853C>T	NM_002016.1	NP_002007.1:p.(His2285Tyr)	NC_000001.10:g.152280509G>A	(Likely) benign	1 lab	57306802db
1:227152908 COQ8A G>A	1	227152908	227152908	G	A	COQ8A	c.385G>A	NM_020247.4	NP_064632.2:p.(Gly129Arg)	NC_000001.10:g.227152908G>A	(Likely) benign	1 lab	5730cad107
6:158564219 SERAC1 G>T	6	158564219	158564219	G	T	SERAC1	c.610-3C>A	NM_032861.3	NP_116250.3:p.?	NC_000006.11:g.158564219G>T	VUS	1 lab	57310a413e
14:66190928 FUT8 C>T	14	66190928	66190928	C	T	FUT8	c.1146C>T	NM_178155.2	NP_835368.1:p.(Tyr382=)	NC_000014.8:g.66190928C>T	(Likely) benign	1 lab	57327881f6
4:178361506 AGA GCT>G	4	178361506	178361515	GCT	G	AGA	c.200_201del	NM_000027.4	NP_000018.2:p.(Glu67AlafsTer3)	NC_000004.11:g.178361514_178361515del	(Likely) pathogenic	1 lab	57327e0956
5:86667856 RASA1 G>GA	5	86667856	86667866	G	GA	RASA1	c.1699-69dup	NM_002890.2	NP_002881.1:p.?	NC_000005.9:g.86667866dup	(Likely) benign	1 lab	5737220a83
1:183189964 LAMC2 C>T	1	183189964	183189964	C	T	LAMC2	c.508C>T	NM_005562.3	NP_005553.2:p.(Arg170Ter)	NC_000001.10:g.183189964C>T	(Likely) pathogenic	1 lab	f1e3ff7448
11:119045372 NLRX1 C>A	11	119045372	119045372	C	A	NLRX1	c.1060C>A	NM_001282144.2	NP_001269073.1:p.(Leu354Ile)	NC_000011.9:g.119045372C>A	(Likely) benign	1 lab	5739534b0b
22:21351057 LZTR1 GGA>G	22	21351057	21351061	GGA	G	LZTR1	c.2295_2296del	NM_006767.4	NP_006758.2:p.(Glu765AspfsTer16)	NC_000022.10:g.21351060_21351061del	(Likely) pathogenic	1 lab	f1e877bbe4
X:153173199 ARHGAP4 G>A	X	153173199	153173199	G	A	ARHGAP4	c.2945C>T	NM_001164741.1	NP_001158213.1:p.(Thr982Ile)	NC_000023.10:g.153173199G>A	(Likely) benign	1 lab	573cebefab
7:83014747 SEMA3E C>T	7	83014747	83014747	C	T	SEMA3E	c.1738G>A	NM_012431.3	NP_036563.1:p.(Asp580Asn)	NC_000007.13:g.83014747C>T	(Likely) benign	1 lab	f1e8cf455e
11:4107874 STIM1 G>A	11	4107874	4107874	G	A	STIM1	c.1642G>A	NM_001277961.1	NP_001264890.1:p.(Gly548Arg)	NC_000011.9:g.4107874G>A	VUS	1 lab	573fbb17c3
4:169432814 PALLD C>G	4	169432814	169432814	C	G	PALLD	c.159C>G	NM_001166108.2	NP_001159580.1:p.(Ser53=)	NC_000004.11:g.169432814C>G	(Likely) benign	1 lab	57408729a1
5:101811466 SLCO6A1 A>C	5	101811466	101811466	A	C	SLCO6A1	c.834T>G	NM_173488.4	NP_775759.3:p.(Tyr278Ter)	NC_000005.9:g.101811466A>C	VUS	1 lab	574175133d
19:56042644 SBK2 A>G	19	56042644	56042644	A	G	SBK2	c.322T>C	NM_001101401.2	NP_001094871.2:p.(Cys108Arg)	NC_000019.9:g.56042644A>G	VUS	1 lab	5742204c32
14:74972881 LTBP2 A>C	14	74972881	74972881	A	C	LTBP2	c.4047T>G	NM_000428.2	NP_000419.1:p.(Cys1349Trp)	NC_000014.8:g.74972881A>C	VUS	1 lab	5743f2beb9
8:10690435 PINX1 G>T	8	10690435	10690435	G	T	PINX1	c.189C>A	NM_017884.6	NP_060354.4:p.(Asn63Lys)	NC_000008.10:g.10690435G>T	VUS	1 lab	574743715f
15:72103177 NR2E3 T>G	15	72103177	72103177	T	G	NR2E3	c.94T>G	NM_016346.3	NP_057430.1:p.(Trp32Gly)	NC_000015.9:g.72103177T>G	(Likely) benign	1 lab	5748748158
16:89603202 SPG7 G>C	16	89603202	89603202	G	C	SPG7	c.1354G>C	NM_199367.2	NP_955399.1:p.(Gly452Arg)	NC_000016.9:g.89603202G>C	(Likely) benign	1 lab	5748e0e3a2
9:377135 DOCK8 C>T	9	377135	377135	C	T	DOCK8	c.2364C>T	NM_203447.3	NP_982272.2:p.(Leu788=)	NC_000009.11:g.377135C>T	(Likely) benign	1 lab	5749ee3df5
2:179613690 TTN T>A	2	179613690	179613690	T	A	TTN	c.13437A>T	NM_133379.4	NP_596870.2:p.(Arg4479Ser)	NC_000002.11:g.179613690T>A	VUS	1 lab	574a38f448
17:48703744 CACNA1G C>T	17	48703744	48703744	C	T	CACNA1G	c.6766C>T	NM_018896.4	NP_061496.2:p.(Arg2256Cys)	NC_000017.10:g.48703744C>T	VUS	1 lab	574af03179
1:117156585 IGSF3 G>A	1	117156585	117156585	G	A	IGSF3	c.634C>T	NM_001007237.2	NP_001007238.1:p.(Gln212Ter)	NC_000001.10:g.117156585G>A	(Likely) benign	1 lab	574bd8cc8f
16:70894603 HYDIN C>A	16	70894603	70894603	C	A	HYDIN	c.11979G>T	NM_001270974.2	NP_001257903.1:p.(Gly3993=)	NC_000016.9:g.70894603C>A	VUS	1 lab	574befec27
X:152128422 ZNF185 G>A	X	152128422	152128422	G	A	ZNF185	c.1682G>A	NM_001178106.1	NP_001171577.1:p.(Arg561Gln)	NC_000023.10:g.152128422G>A	(Likely) benign	1 lab	574c225e45
X:135482134 ADGRG4 G>A	X	135482134	135482134	G	A	ADGRG4	c.8434G>A	NM_153834.3	NP_722576.3:p.(Ala2812Thr)	NC_000023.10:g.135482134G>A	(Likely) benign	1 lab	574cf6ae1d
X:119210963 RHOXF2B C>T	X	119210963	119210963	C	T	RHOXF2B	c.370G>A	NM_001099685.2	NP_001093155.1:p.(Ala124Thr)	NC_000023.10:g.119210963C>T	(Likely) benign	1 lab	574d9e4a51
9:113312246 SVEP1 A>G	9	113312246	113312246	A	G	SVEP1	c.670T>C	NM_153366.4	NP_699197.3:p.(Trp224Arg)	NC_000009.11:g.113312246A>G	VUS	1 lab	574f642c6f
11:6647467 DCHS1 C>T	11	6647467	6647467	C	T	DCHS1	c.6509G>A	NM_003737.4	NP_003728.1:p.(Arg2170His)	NC_000011.9:g.6647467C>T	VUS	1 lab	f1f1995e01
4:126372320 FAT4 T>C	4	126372320	126372320	T	C	FAT4	c.10149T>C	NM_024582.4	NP_078858.4:p.(Gly3383=)	NC_000004.11:g.126372320T>C	(Likely) benign	1 lab	5753d3965e
19:55665571 TNNI3 C>T	19	55665571	55665571	C	T	TNNI3	c.376G>A	NM_000363.4	NP_000354.4:p.(Ala126Thr)	NC_000019.9:g.55665571C>T	VUS	1 lab	57547679e3
16:89986181 MC1R G>T	16	89986181	89986181	G	T	MC1R	c.515G>T	NM_002386.3	NP_002377.4:p.(Ser172Ile)	NC_000016.9:g.89986181G>T	VUS	1 lab	57547d7bce
10:73565712 CDH23 G>A	10	73565712	73565712	G	A	CDH23	c.8022G>A	NM_022124.5	NP_071407.4:p.(Gln2674=)	NC_000010.10:g.73565712G>A	(Likely) benign	1 lab	57551c6816
15:101593631 LRRK1 G>A	15	101593631	101593631	G	A	LRRK1	c.4054+6G>A	NM_024652.5	NP_078928.3:p.?	NC_000015.9:g.101593631G>A	(Likely) benign	1 lab	575528e198
3:47061221 SETD2 GCTTAGTGCTTATATCCACCAAAC>G	3	47061221	47061248	GCTTAGTGCTTATATCCACCAAAC	G	SETD2	c.7431+6_7431+28del	NM_014159.7	NP_054878.5:p.?	NC_000003.11:g.47061226_47061248del	(Likely) benign	1 lab	575579edfa
10:102750783 TWNK C>A	10	102750783	102750783	C	A	TWNK	c.1734+16C>A	NM_021830.5	NP_068602.2:p.?	NC_000010.10:g.102750783C>A	(Likely) benign	1 lab	f1f6cff5f1
3:87310421 POU1F1 A>G	3	87310421	87310421	A	G	POU1F1	c.743+2T>C	NM_001122757.2	NP_001116229.1:p.?	NC_000003.11:g.87310421A>G	(Likely) pathogenic	1 lab	5758645f20
X:140996585 MAGEC1 C>T	X	140996585	140996585	C	T	MAGEC1	c.3395C>T	NM_005462.4	NP_005453.2:p.(Ser1132Phe)	NC_000023.10:g.140996585C>T	VUS	1 lab	57587005c1
17:39197588 KRTAP1-1 C>T	17	39197588	39197588	C	T	KRTAP1-1	c.62G>A	NM_030967.2	NP_112229.1:p.(Gly21Asp)	NC_000017.10:g.39197588C>T	(Likely) benign	1 lab	57587c620e
3:48622211 COL7A1 G>A	3	48622211	48622211	G	A	COL7A1	c.4012-9C>T	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48622211G>A	(Likely) benign	1 lab	57590aedeb
12:313824 SLC6A12 G>A	12	313824	313824	G	A	SLC6A12	c.255C>T	NM_003044.4	NP_003035.3:p.(Cys85=)	NC_000012.11:g.313824G>A	(Likely) benign	1 lab	57591d5653
9:35094251 PIGO G>A	9	35094251	35094251	G	A	PIGO	c.617C>T	NM_032634.3	NP_116023.2:p.(Thr206Ile)	NC_000009.11:g.35094251G>A	VUS	1 lab	57597ca8f9
11:17582291 OTOG G>C	11	17582291	17582291	G	C	OTOG	c.1414G>C	NM_001277269.1	NP_001264198.1:p.(Ala472Pro)	NC_000011.9:g.17582291G>C	VUS	1 lab	575a8ccda3
16:3778325 CREBBP T>C	16	3778325	3778325	T	C	CREBBP	c.6723A>G	NM_004380.2	NP_004371.2:p.(Pro2241=)	NC_000016.9:g.3778325T>C	(Likely) benign	1 lab	575ad05f62
1:43396727 SLC2A1 G>A	1	43396727	43396727	G	A	SLC2A1	c.265C>T	NM_006516.3	NP_006507.2:p.(Arg89Cys)	NC_000001.10:g.43396727G>A	VUS	1 lab	575dbc8175
15:45405582 DUOX2 T>A	15	45405582	45405582	T	A	DUOX2	c.28A>T	NM_014080.4	NP_054799.4:p.(Met10Leu)	NC_000015.9:g.45405582T>A	(Likely) benign	1 lab	575fb10d3b
21:47552034 COL6A2 C>T	21	47552034	47552034	C	T	COL6A2	c.2628C>T	NM_001849.3	NP_001840.3:p.(Arg876=)	NC_000021.8:g.47552034C>T	(Likely) benign	1 lab	575fed20ea
11:68183809 LRP5 C>G	11	68183809	68183809	C	G	LRP5	c.1098C>G	NM_001291902.1	NP_001278831.1:p.(Phe366Leu)	NC_000011.9:g.68183809C>G	VUS	1 lab	5760678e2c
17:18025119 MYO15A C>A	17	18025119	18025119	C	A	MYO15A	c.3005C>A	NM_016239.3	NP_057323.3:p.(Thr1002Asn)	NC_000017.10:g.18025119C>A	VUS	1 lab	57607b7dce
20:44637593 MMP9 G>A	20	44637593	44637593	G	A	MMP9	c.28G>A	NM_004994.2	NP_004985.2:p.(Val10Met)	NC_000020.10:g.44637593G>A	(Likely) benign	1 lab	5761fc38dd
X:153595221 FLNA G>A	X	153595221	153595221	G	A	FLNA	c.869-3C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153595221G>A	(Likely) benign	1 lab	57627c23b3
18:44063648 LOXHD1 A>G	18	44063648	44063648	A	G	LOXHD1	c.6057T>C	NM_144612.6	NP_653213.6:p.(Cys2019=)	NC_000018.9:g.44063648A>G	(Likely) benign	1 lab	576456502d
3:69058916 EOGT TGTGA>T	3	69058916	69058922	TGTGA	T	EOGT	c.78_81del	NM_001278689.2	NP_001265618.1:p.(His27AlafsTer46)	NC_000003.11:g.69058919_69058922del	(Likely) pathogenic	1 lab	5766d5fdb9
11:71724594 NUMA1 C>T	11	71724594	71724594	C	T	NUMA1	c.3955G>A	NM_001286561.1	NP_001273490.1:p.(Ala1319Thr)	NC_000011.9:g.71724594C>T	VUS	1 lab	57677f77d0
X:74670562 ZDHHC15 T>G	X	74670562	74670562	T	G	ZDHHC15	c.427A>C	NM_001146257.1	NP_001139729.1:p.(Asn143His)	NC_000023.10:g.74670562T>G	(Likely) benign	1 lab	5767d49312
16:2110758 TSC2 G>T	16	2110758	2110758	G	T	TSC2	c.1063G>T	NM_001114382.2	NP_001107854.1:p.(Val355Leu)	NC_000016.9:g.2110758G>T	(Likely) benign	1 lab	57697bad51
X:71915637 PHKA1 C>T	X	71915637	71915637	C	T	PHKA1	c.375G>A	NM_002637.3	NP_002628.2:p.(Val125=)	NC_000023.10:g.71915637C>T	VUS	1 lab	57698aa17e
14:64496644 SYNE2 G>A	14	64496644	64496644	G	A	SYNE2	c.6746G>A	NM_182914.2	NP_878918.2:p.(Arg2249Gln)	NC_000014.8:g.64496644G>A	(Likely) benign	1 lab	5769be5f36
10:105796399 COL17A1 G>C	10	105796399	105796399	G	C	COL17A1	c.3278-9C>G	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105796399G>C	(Likely) benign	1 lab	f1fa7b8e70
7:42079622 GLI3 C>T	7	42079622	42079622	C	T	GLI3	c.1028+15G>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42079622C>T	(Likely) benign	1 lab	576a379348
1:6535135 PLEKHG5 C>T	1	6535135	6535135	C	T	PLEKHG5	c.505G>A	NM_198681.3	NP_941374.2:p.(Val169Ile)	NC_000001.10:g.6535135C>T	VUS	1 lab	576a8e2559
X:38150659 RPGR T>C	X	38150659	38150659	T	C	RPGR	c.1493A>G	NM_001034853.1	NP_001030025.1:p.(Asp498Gly)	NC_000023.10:g.38150659T>C	VUS	1 lab	576b1a27bf
20:13775520 NDUFAF5 G>A	20	13775520	13775520	G	A	NDUFAF5	c.412G>A	NM_024120.4	NP_077025.2:p.(Val138Ile)	NC_000020.10:g.13775520G>A	(Likely) benign	1 lab	576b6732e1
1:173799900 DARS2 G>A	1	173799900	173799900	G	A	DARS2	c.396+1G>A	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173799900G>A	VUS	1 lab	576c589325
15:23892442 MAGEL2 A>T	15	23892442	23892442	A	T	MAGEL2	c.448T>A	NM_019066.4	NP_061939.3:p.(Ser150Thr)	NC_000015.9:g.23892442A>T	(Likely) benign	1 lab	576c64b8eb
6:112508750 LAMA4 A>G	6	112508750	112508750	A	G	LAMA4	c.868T>C	NM_001105206.2	NP_001098676.2:p.(Ser290Pro)	NC_000006.11:g.112508750A>G	(Likely) benign	1 lab	576cdb6752
X:153774994 G6PD G>C	X	153774994	153774994	G	C	G6PD	c.82+10C>G	NM_000402.4	NP_000393.4:p.?	NC_000023.10:g.153774994G>C	(Likely) benign	1 lab	576d2a7209
6:170155460 ERMARD C>A	6	170155460	170155460	C	A	ERMARD	c.257C>A	NM_018341.2	NP_060811.1:p.(Thr86Asn)	NC_000006.11:g.170155460C>A	(Likely) benign	1 lab	576f49bcc6
15:38591593 SPRED1 C>T	15	38591593	38591593	C	T	SPRED1	c.52C>T	NM_152594.2	NP_689807.1:p.(Arg18Ter)	NC_000015.9:g.38591593C>T	(Likely) pathogenic	1 lab	576fbdfa39
3:134293635 CEP63 A>C	3	134293635	134293635	A	C	CEP63	c.1330A>C	NM_001042384.2	NP_001035843.1:p.(Arg444=)	NC_000003.11:g.134293635A>C	(Likely) benign	1 lab	57710b1464
11:73879623 C2CD3 G>A	11	73879623	73879623	G	A	C2CD3	c.91C>T	NM_001286577.2	NP_001273506.1:p.(Pro31Ser)	NC_000011.9:g.73879623G>A	(Likely) pathogenic	1 lab	f1fab327fb
8:17125761 VPS37A T>C	8	17125761	17125761	T	C	VPS37A	c.201-6T>C	NM_152415.2	NP_689628.2:p.?	NC_000008.10:g.17125761T>C	(Likely) benign	1 lab	577338b378
18:33779794 MOCOS G>A	18	33779794	33779794	G	A	MOCOS	c.448G>A	NM_017947.3	NP_060417.3:p.(Asp150Asn)	NC_000018.9:g.33779794G>A	VUS	1 lab	577435ff96
2:111431951 BUB1 G>C	2	111431951	111431951	G	C	BUB1	c.27-9C>G	NM_004336.4	NP_004327.1:p.?	NC_000002.11:g.111431951G>C	(Likely) benign	1 lab	5775668a19
17:73826505 UNC13D G>C	17	73826505	73826505	G	C	UNC13D	c.2768C>G	NM_199242.2	NP_954712.1:p.(Ser923Cys)	NC_000017.10:g.73826505G>C	VUS	1 lab	5775e00e18
16:4385179 GLIS2 G>A	16	4385179	4385179	G	A	GLIS2	c.641G>A	NM_032575.2	NP_115964.2:p.(Arg214Gln)	NC_000016.9:g.4385179G>A	VUS	1 lab	577609a4a2
X:135289238 FHL1 C>T	X	135289238	135289238	C	T	FHL1	c.220C>T	NM_001159704.1	NP_001153176.1:p.(Pro74Ser)	NC_000023.10:g.135289238C>T	(Likely) benign	1 lab	f2018236af
17:8791532 PIK3R5 G>A	17	8791532	8791532	G	A	PIK3R5	c.414C>T	NM_001251851.1	NP_001238780.1:p.(Ser138=)	NC_000017.10:g.8791532G>A	(Likely) benign	1 lab	5777641f12
9:139395037 NOTCH1 C>T	9	139395037	139395037	C	T	NOTCH1	c.5901G>A	NM_017617.5	NP_060087.3:p.(Ala1967=)	NC_000009.11:g.139395037C>T	VUS	1 lab	5777706eb5
7:103015002 SLC26A5 A>G	7	103015002	103015002	A	G	SLC26A5	c.2079T>C	NM_198999.2	NP_945350.1:p.(Phe693=)	NC_000007.13:g.103015002A>G	(Likely) benign	1 lab	57782b8012
6:44279977 AARS2 G>A	6	44279977	44279977	G	A	AARS2	c.267C>T	NM_020745.3	NP_065796.1:p.(Thr89=)	NC_000006.11:g.44279977G>A	(Likely) benign	1 lab	5778da83a1
15:48786418 FBN1 T>C	15	48786418	48786418	T	C	FBN1	c.2711A>G	NM_000138.4	NP_000129.3:p.(Lys904Arg)	NC_000015.9:g.48786418T>C	(Likely) benign	1 lab	5778e230db
X:79984330 BRWD3 G>A	X	79984330	79984330	G	A	BRWD3	c.1307C>T	NM_153252.4	NP_694984.4:p.(Thr436Ile)	NC_000023.10:g.79984330G>A	(Likely) benign	1 lab	5779deaa54
7:94040442 COL1A2 G>A	7	94040442	94040442	G	A	COL1A2	c.1326G>A	NM_000089.3	NP_000080.2:p.(Gly442=)	NC_000007.13:g.94040442G>A	(Likely) benign	1 lab	577af51e14
X:152991196 ABCD1 G>A	X	152991196	152991196	G	A	ABCD1	c.475G>A	NM_000033.3	NP_000024.2:p.(Ala159Thr)	NC_000023.10:g.152991196G>A	(Likely) benign	1 lab	577b8dd4e3
1:160105243 ATP1A2 C>T	1	160105243	160105243	C	T	ATP1A2	c.2135C>T	NM_000702.4	NP_000693.1:p.(Thr712Met)	NC_000001.10:g.160105243C>T	VUS	1 lab	f204403d7e
4:436612 ZNF721 C>G	4	436612	436612	C	G	ZNF721	c.1644G>C	NM_133474.4	NP_597731.2:p.(Arg548Ser)	NC_000004.11:g.436612C>G	(Likely) benign	1 lab	577e265dc7
2:233704674 GIGYF2 G>A	2	233704674	233704674	G	A	GIGYF2	c.2882G>A	NM_015575.3	NP_056390.2:p.(Arg961Gln)	NC_000002.11:g.233704674G>A	(Likely) benign	1 lab	577f5c15c5
9:130095394 GARNL3 A>G	9	130095394	130095394	A	G	GARNL3	c.697A>G	NM_001286779.1	NP_001273708.1:p.(Thr233Ala)	NC_000009.11:g.130095394A>G	VUS	1 lab	577fe3eb49
5:127727832 FBN2 T>A	5	127727832	127727832	T	A	FBN2	c.1482A>T	NM_001999.3	NP_001990.2:p.(Thr494=)	NC_000005.9:g.127727832T>A	(Likely) benign	1 lab	578160409b
X:85233900 CHM A>G	X	85233900	85233900	A	G	CHM	c.190-5T>C	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85233900A>G	(Likely) benign	1 lab	f2047008a7
12:13716887 GRIN2B C>T	12	13716887	13716887	C	T	GRIN2B	c.3285G>A	NM_000834.5	NP_000825.2:p.(Ser1095=)	NC_000012.11:g.13716887C>T	(Likely) benign	1 lab	f205cdb5f6
1:151271544 PI4KB A>C	1	151271544	151271544	A	C	PI4KB	c.1710T>G	NM_001198773.2	NP_001185702.1:p.(Ile570Met)	NC_000001.10:g.151271544A>C	VUS	1 lab	5782d99054
10:121429655 BAG3 C>CGCG	10	121429655	121429657	C	CGCG	BAG3	c.474_475insCGG	NM_004281.3	NP_004272.2:p.(Ala158_Ala159insArg)	NC_000010.10:g.121429656_121429657insCGG	(Likely) benign	1 lab	5782e6f81a
22:24134064 SMARCB1 CAA>C	22	24134064	24134068	CAA	C	SMARCB1	c.218_219del	NM_003073.5	NP_003064.2:p.(Lys73ThrfsTer2)	NC_000022.10:g.24134067_24134068del	(Likely) pathogenic	1 lab	5782ed05b1
10:29169212 C10orf126 C>A	10	29169212	29169212	C	A	C10orf126	c.356C>A	NM_001278522.1	NP_001265451.1:p.(Ser119Ter)	NC_000010.10:g.29169212C>A	VUS	1 lab	5783b95bcf
1:215853562 USH2A C>G	1	215853562	215853562	C	G	USH2A	c.12223G>C	NM_206933.2	NP_996816.2:p.(Glu4075Gln)	NC_000001.10:g.215853562C>G	VUS	1 lab	5785f82636
15:62256131 VPS13C A>G	15	62256131	62256131	A	G	VPS13C	c.3234T>C	NM_001018088.2	NP_001018098.1:p.(Asp1078=)	NC_000015.9:g.62256131A>G	(Likely) benign	1 lab	5787f0a786
3:57131719 IL17RD G>A	3	57131719	57131719	G	A	IL17RD	c.1580C>T	NM_001318864.1	NP_001305793.1:p.(Ser527Leu)	NC_000003.11:g.57131719G>A	VUS	1 lab	57882be550
1:57481065 DAB1 C>T	1	57481065	57481065	C	T	DAB1	c.935G>A	NM_021080.5	NP_066566.3:p.(Gly312Asp)	NC_000001.10:g.57481065C>T	VUS	1 lab	f206300a75
21:45751835 CFAP410 C>G	21	45751835	45751835	C	G	CFAP410	c.436G>C	NM_001271441.1	NP_001258370.1:p.(Glu146Gln)	NC_000021.8:g.45751835C>G	(Likely) benign	1 lab	5789b40109
X:149101972 EOLA2 C>T	X	149101972	149101972	C	T	EOLA2	c.121G>A	NM_001013845.2	NP_001013867.1:p.(Val41Ile)	NC_000023.10:g.149101972C>T	(Likely) benign	1 lab	5789ddec6c
5:41181482 C6 G>A	5	41181482	41181482	G	A	C6	c.906C>T	NM_001115131.2	NP_001108603.2:p.(Ala302=)	NC_000005.9:g.41181482G>A	(Likely) benign	1 lab	578cc1ae57
11:17632921 OTOG C>T	11	17632921	17632921	C	T	OTOG	c.6110C>T	NM_001277269.1	NP_001264198.1:p.(Ala2037Val)	NC_000011.9:g.17632921C>T	(Likely) benign	1 lab	578d03fc5d
4:56212611 SRD5A3 G>T	4	56212611	56212611	G	T	SRD5A3	c.108G>T	NM_024592.4	NP_078868.1:p.(Pro36=)	NC_000004.11:g.56212611G>T	(Likely) benign	1 lab	578e0fe8b9
10:122666336 WDR11 G>C	10	122666336	122666336	G	C	WDR11	c.3486G>C	NM_018117.11	NP_060587.8:p.(Lys1162Asn)	NC_000010.10:g.122666336G>C	VUS	1 lab	578f76ab2f
3:138289976 CEP70 A>G	3	138289976	138289976	A	G	CEP70	c.184T>C	NM_001320598.1	NP_001307527.1:p.(Ser62Pro)	NC_000003.11:g.138289976A>G	VUS	1 lab	57903a63e3
11:45931671 PEX16 G>A	11	45931671	45931671	G	A	PEX16	c.1010C>T	NM_057174.2	NP_476515.1:p.(Ser337Leu)	NC_000011.9:g.45931671G>A	(Likely) benign	1 lab	5790898afc
17:29533389 NF1 G>C	17	29533389	29533389	G	C	NF1	c.1392G>C	NM_000267.3	NP_000258.1:p.(Pro464=)	NC_000017.10:g.29533389G>C	(Likely) pathogenic	1 lab	f209f6e240
9:120476016 TLR4 C>T	9	120476016	120476016	C	T	TLR4	c.1490C>T	NM_003266.3	NP_003257.1:p.(Thr497Met)	NC_000009.11:g.120476016C>T	VUS	1 lab	5792f73eb6
5:89918437 ADGRV1 G>A	5	89918437	89918437	G	A	ADGRV1	c.477G>A	NM_032119.4	NP_115495.3:p.(Glu159=)	NC_000005.9:g.89918437G>A	(Likely) benign	1 lab	5793ac29c4
16:162729 NPRL3 G>A	16	162729	162729	G	A	NPRL3	c.439C>T	NM_001077350.3	NP_001070818.1:p.(Arg147Cys)	NC_000016.9:g.162729G>A	(Likely) benign	1 lab	f20acd4fdb
X:40988253 USP9X A>G	X	40988253	40988253	A	G	USP9X	c.97A>G	NM_001039591.3	NP_001034680.2:p.(Thr33Ala)	NC_000023.10:g.40988253A>G	VUS	1 lab	57967984c7
9:133901760 LAMC3 C>T	9	133901760	133901760	C	T	LAMC3	c.462C>T	NM_006059.3	NP_006050.3:p.(Asp154=)	NC_000009.11:g.133901760C>T	(Likely) benign	1 lab	57989944e8
7:21857903 DNAH11 C>T	7	21857903	21857903	C	T	DNAH11				NC_000007.13:g.21857903C>T	(Likely) benign	1 lab	579a82819a
7:100637332 MUC12 G>A	7	100637332	100637332	G	A	MUC12	c.3488G>A	NM_001164462.1	NP_001157934.1:p.(Ser1163Asn)	NC_000007.13:g.100637332G>A	VUS	1 lab	579bcd787c
7:47851578 PKD1L1 G>A	7	47851578	47851578	G	A	PKD1L1	c.7418C>T	NM_138295.4	NP_612152.1:p.(Ser2473Phe)	NC_000007.13:g.47851578G>A	VUS	1 lab	579dec2451
9:95482828 BICD2 G>A	9	95482828	95482828	G	A	BICD2	c.816C>T	NM_001003800.1	NP_001003800.1:p.(Tyr272=)	NC_000009.11:g.95482828G>A	(Likely) benign	1 lab	579e53e4ed
12:133198452 P2RX2 G>A	12	133198452	133198452	G	A	P2RX2	c.1388G>A	NM_170683.3	NP_733783.1:p.(Arg463Gln)	NC_000012.11:g.133198452G>A	VUS	1 lab	579f063881
1:40768464 COL9A2 C>T	1	40768464	40768464	C	T	COL9A2	c.1621G>A	NM_001852.4	NP_001843.1:p.(Ala541Thr)	NC_000001.10:g.40768464C>T	VUS	1 lab	579f5f2d5c
X:73961274 NEXMIF T>C	X	73961274	73961274	T	C	NEXMIF	c.3118A>G	NM_001008537.2	NP_001008537.1:p.(Ile1040Val)	NC_000023.10:g.73961274T>C	VUS	1 lab	579f8fc710
17:33482369 UNC45B G>A	17	33482369	33482369	G	A	UNC45B	c.694G>A	NM_001033576.1	NP_001028748.1:p.(Val232Met)	NC_000017.10:g.33482369G>A	VUS	1 lab	57a176215a
16:2130250 TSC2 C>T	16	2130250	2130250	C	T	TSC2	c.3482C>T	NM_000548.3	NP_000539.2:p.(Ala1161Val)	NC_000016.9:g.2130250C>T	(Likely) benign	1 lab	57a18e534d
6:157099871 ARID1B T>G	6	157099871	157099871	T	G	ARID1B	c.808T>G	NM_001346813.1	NP_001333742.1:p.(Ser270Ala)	NC_000006.11:g.157099871T>G	(Likely) benign	1 lab	57a1958dfb
7:92732235 SAMD9 T>C	7	92732235	92732235	T	C	SAMD9	c.3176A>G	NM_017654.3	NP_060124.2:p.(His1059Arg)	NC_000007.13:g.92732235T>C	(Likely) benign	1 lab	57a231d57f
X:153421916 OPN1LW G>C	X	153421916	153421916	G	C	OPN1LW	c.892G>C	NM_020061.5	NP_064445.2:p.(Ala298Pro)	NC_000023.10:g.153421916G>C	VUS	1 lab	57a263d2be
13:32921146 BRCA2 C>T	13	32921146	32921146	C	T	BRCA2	c.7007+113C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32921146C>T	(Likely) benign	1 lab	57a442aa89
18:29102136 DSG2 C>T	18	29102136	29102136	C	T	DSG2	c.614C>T	NM_001943.5	NP_001934.2:p.(Pro205Leu)	NC_000018.9:g.29102136C>T	VUS	1 lab	f20c2189b8
7:149744724 ACTR3C C>A	7	149744724	149744724	C	A	ACTR3C	c.27G>T	NM_001351027.1	NP_001337956.1:p.(Arg9Ser)	NC_000007.13:g.149744724C>A	(Likely) benign	1 lab	57a73f68e9
7:100382323 ZAN G>A	7	100382323	100382323	G	A	ZAN	c.6701G>A	NM_003386.2	NP_003377.2:p.(Arg2234Gln)	NC_000007.13:g.100382323G>A	(Likely) benign	1 lab	57aac88c10
3:123366222 MYLK A>G	3	123366222	123366222	A	G	MYLK	c.4468T>C	NM_053025.3	NP_444253.3:p.(Trp1490Arg)	NC_000003.11:g.123366222A>G	VUS	1 lab	57abb049cb
X:1407736 CSF2RA CG>C	X	1407736	1407738	CG	C	CSF2RA	c.430del	NM_172245.4	NP_758448.1:p.(Ala144ProfsTer43)	NC_000023.10:g.1407738del	(Likely) pathogenic	1 lab	57ae3cd2a9
10:77158717 ZNF503 G>C	10	77158717	77158717	G	C	ZNF503	c.1731C>G	NM_032772.6	NP_116161.2:p.(Thr577=)	NC_000010.10:g.77158717G>C	(Likely) benign	1 lab	57ae48a2dd
11:118959808 HMBS A>AG	11	118959808	118959812	A	AG	HMBS	c.181dup	NM_000190.4	NP_000181.2:p.(Asp61GlyfsTer5)	NC_000011.9:g.118959812dup	(Likely) pathogenic	1 lab	57af24767f
11:66050599 CNIH2 C>T	11	66050599	66050599	C	T	CNIH2	c.292C>T	NM_182553.3	NP_872359.1:p.(Leu98Phe)	NC_000011.9:g.66050599C>T	VUS	1 lab	57aff72364
7:55268045 EGFR G>A	7	55268045	55268045	G	A	EGFR	c.2750G>A	NM_001346899.1	NP_001333828.1:p.(Arg917His)	NC_000007.13:g.55268045G>A	VUS	1 lab	57b3c061e1
11:6648080 DCHS1 G>A	11	6648080	6648080	G	A	DCHS1	c.6190C>T	NM_003737.4	NP_003728.1:p.(Arg2064Cys)	NC_000011.9:g.6648080G>A	VUS	1 lab	f20d6036fc
X:15809072 ZRSR2 G>A	X	15809072	15809072	G	A	ZRSR2	c.57G>A	NM_005089.3	NP_005080.1:p.(Arg19=)	NC_000023.10:g.15809072G>A	(Likely) benign	1 lab	57bf6418a1
13:32907204 BRCA2 A>C	13	32907204	32907204	A	C	BRCA2	c.1589A>C	NM_000059.3	NP_000050.2:p.(Lys530Thr)	NC_000013.10:g.32907204A>C	(Likely) benign	1 lab	57b51d7766
18:77748975 TXNL4A G>A	18	77748975	77748975	G	A	TXNL4A				NC_000018.9:g.77748975G>A	(Likely) benign	1 lab	57b5603878
16:66951928 CDH16 G>A	16	66951928	66951928	G	A	CDH16	c.41C>T	NM_001204744.1	NP_001191673.1:p.(Pro14Leu)	NC_000016.9:g.66951928G>A	(Likely) benign	1 lab	57b5c99ba4
2:162807228 SLC4A10 C>A	2	162807228	162807228	C	A	SLC4A10	c.2447C>A	NM_001354461.1	NP_001341390.1:p.(Thr816Lys)	NC_000002.11:g.162807228C>A	(Likely) benign	1 lab	57b5cd45db
10:101595980 ABCC2 C>A	10	101595980	101595980	C	A	ABCC2	c.3547C>A	NM_000392.5	NP_000383.2:p.(Leu1183Met)	NC_000010.10:g.101595980C>A	VUS	1 lab	57b78b9e01
15:23890708 MAGEL2 G>A	15	23890708	23890708	G	A	MAGEL2	c.2182C>T	NM_019066.4	NP_061939.3:p.(Arg728Cys)	NC_000015.9:g.23890708G>A	VUS	1 lab	57b8b776f9
17:29685515 NF1 C>CT	17	29685515	29685516	C	CT	NF1	c.7926dup	NM_000267.3	NP_000258.1:p.(Lys2643Ter)	NC_000017.10:g.29685516dup	(Likely) pathogenic	1 lab	57ba1a554e
1:57538089 DAB1 T>A	1	57538089	57538089	T	A	DAB1	c.307-2A>T	NM_021080.4	NP_066566.3:p.?	NC_000001.10:g.57538089T>A	VUS	1 lab	57bbd05bc5
17:79479067 ACTG1 G>A	17	79479067	79479067	G	A	ACTG1	c.225C>T	NM_001199954.2	NP_001186883.1:p.(Ile75=)	NC_000017.10:g.79479067G>A	(Likely) benign	1 lab	57bbfd5bd8
2:228168741 COL4A3 G>A	2	228168741	228168741	G	A	COL4A3	c.4034G>A	NM_000091.4	NP_000082.2:p.(Arg1345His)	NC_000002.11:g.228168741G>A	(Likely) benign	1 lab	57bd44cb2d
16:2131747 TSC2 G>A	16	2131747	2131747	G	A	TSC2	c.3762G>A	NM_001114382.2	NP_001107854.1:p.(Ser1254=)	NC_000016.9:g.2131747G>A	(Likely) benign	1 lab	57bec6f916
5:90002173 ADGRV1 G>C	5	90002173	90002173	G	C	ADGRV1	c.8692G>C	NM_032119.4	NP_115495.3:p.(Gly2898Arg)	NC_000005.9:g.90002173G>C	VUS	1 lab	57c02adb88
4:56831978 CEP135 AAAG>A	4	56831978	56831987	AAAG	A	CEP135	c.1004_1006del	NM_025009.5	NP_079285.2:p.(Glu335del)	NC_000004.11:g.56831985_56831987del	VUS	1 lab	57c1c83eeb
7:140494246 BRAF C>T	7	140494246	140494246	C	T	BRAF	c.1002G>A	NM_004333.4	NP_004324.2:p.(Pro334=)	NC_000007.13:g.140494246C>T	(Likely) benign	1 lab	57c1e9d065
1:17313682 ATP13A2 G>A	1	17313682	17313682	G	A	ATP13A2	c.2927C>T	NM_001141973.2	NP_001135445.1:p.(Thr976Met)	NC_000001.10:g.17313682G>A	VUS	1 lab	57c2f55ed2
20:62038351 KCNQ2 G>A	20	62038351	62038351	G	A	KCNQ2	c.2265C>T	NM_172107.3	NP_742105.1:p.(Tyr755=)	NC_000020.10:g.62038351G>A	(Likely) benign	1 lab	57c3bc08d7
21:43161624 RIPK4 C>T	21	43161624	43161624	C	T	RIPK4	c.1729G>A	NM_020639.2	NP_065690.2:p.(Ala577Thr)	NC_000021.8:g.43161624C>T	VUS	1 lab	57c4e9cdf2
16:2134640 TSC2 AAG>A	16	2134640	2134646	AAG	A	TSC2	c.4422_4423del	NM_000548.5	NP_000539.2:p.(Arg1474SerfsTer49)	NC_000016.9:g.2134645_2134646del	(Likely) pathogenic	1 lab	57c650b821
17:3957462 ZZEF1 C>T	17	3957462	3957462	C	T	ZZEF1	c.5323G>A	NM_015113.4	NP_055928.3:p.(Asp1775Asn)	NC_000017.10:g.3957462C>T	(Likely) benign	1 lab	57c8a77776
17:79826552 ARHGDIA A>C	17	79826552	79826552	A	C	ARHGDIA	c.703T>G	NM_001301242.1	NP_001288171.1:p.(Ser235Ala)	NC_000017.10:g.79826552A>C	VUS	1 lab	57c998050d
9:27190694 TEK C>T	9	27190694	27190694	C	T	TEK	c.1489+6C>T	NM_000459.4	NP_000450.2:p.?	NC_000009.11:g.27190694C>T	(Likely) benign	1 lab	57cb862a71
10:72201259 NODAL T>C	10	72201259	72201259	T	C	NODAL	c.165A>G	NM_018055.4	NP_060525.3:p.(Ala55=)	NC_000010.10:g.72201259T>C	(Likely) benign	1 lab	57d0140ed3
16:8906926 PMM2 A>G	16	8906926	8906926	A	G	PMM2	c.602A>G	NM_000303.2	NP_000294.1:p.(Tyr201Cys)	NC_000016.9:g.8906926A>G	VUS	1 lab	57d06042b1
9:137591923 COL5A1 C>T	9	137591923	137591923	C	T	COL5A1	c.446C>T	NM_000093.4	NP_000084.3:p.(Pro149Leu)	NC_000009.11:g.137591923C>T	VUS	1 lab	57d0cc8fc6
17:29552155 NF1 GT>G	17	29552155	29552156	GT	G	NF1	c.1889del	NM_001042492.3	NP_001035957.1:p.(Val630GlufsTer58)	NC_000017.10:g.29552156del	(Likely) pathogenic	1 lab	57d0cef01d
16:67646024 CTCF G>C	16	67646024	67646024	G	C	CTCF	c.952G>C	NM_006565.3	NP_006556.1:p.(Gly318Arg)	NC_000016.9:g.67646024G>C	(Likely) pathogenic	1 lab	57d3b221f8
9:140087121 TPRN T>C	9	140087121	140087121	T	C	TPRN	c.1748A>G	NM_001128228.3	NP_001121700.2:p.(Lys583Arg)	NC_000009.11:g.140087121T>C	(Likely) benign	1 lab	57d3f0c5d2
10:95399842 PDE6C G>T	10	95399842	95399842	G	T	PDE6C	c.1498G>T	NM_006204.3	NP_006195.3:p.(Asp500Tyr)	NC_000010.10:g.95399842G>T	VUS	1 lab	57d53ce0b9
19:3983220 EEF2 G>A	19	3983220	3983220	G	A	EEF2	c.288C>T	NM_001961.3	NP_001952.1:p.(Ala96=)	NC_000019.9:g.3983220G>A	(Likely) benign	1 lab	57d594a169
12:102154070 GNPTAB C>CCT	12	102154070	102154071	C	CCT	GNPTAB	c.3136-150_3136-149insAG	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102154070_102154071insCT	(Likely) benign	1 lab	57d6897000
5:13701447 DNAH5 G>A	5	13701447	13701447	G	A	DNAH5	c.13437C>T	NM_001369.2	NP_001360.1:p.(Cys4479=)	NC_000005.9:g.13701447G>A	(Likely) benign	1 lab	57dc73472f
20:30419931 MYLK2 C>T	20	30419931	30419931	C	T	MYLK2	c.1702C>T	NM_033118.3	NP_149109.1:p.(Arg568Cys)	NC_000020.10:g.30419931C>T	VUS	1 lab	57dc956675
X:49062977 CACNA1F C>T	X	49062977	49062977	C	T	CACNA1F	c.5500G>A	NM_005183.3	NP_005174.2:p.(Ala1834Thr)	NC_000023.10:g.49062977C>T	(Likely) benign	1 lab	57ded2946b
19:1470158 APC2 C>A	19	1470158	1470158	C	A	APC2	c.6858C>A	NM_005883.2	NP_005874.1:p.(Thr2286=)	NC_000019.9:g.1470158C>A	(Likely) benign	1 lab	57dee95f6c
14:105415752 AHNAK2 A>T	14	105415752	105415752	A	T	AHNAK2	c.6036T>A	NM_138420.3	NP_612429.2:p.(Asp2012Glu)	NC_000014.8:g.105415752A>T	(Likely) benign	1 lab	57df534e98
14:23858143 MYH6 T>C	14	23858143	23858143	T	C	MYH6	c.4100A>G	NM_002471.3	NP_002462.2:p.(Asn1367Ser)	NC_000014.8:g.23858143T>C	VUS	1 lab	57e0245e8d
1:103468332 COL11A1 C>T	1	103468332	103468332	C	T	COL11A1	c.2050G>A	NM_080629.2	NP_542196.2:p.(Asp684Asn)	NC_000001.10:g.103468332C>T	VUS	1 lab	57e1b61128
X:53407105 SMC1A T>A	X	53407105	53407105	T	A	SMC1A	c.3555A>T	NM_001281463.1	NP_001268392.1:p.(Gln1185His)	NC_000023.10:g.53407105T>A	VUS	1 lab	57e1d15fa6
16:2546223 TBC1D24 A>G	16	2546223	2546223	A	G	TBC1D24	c.74A>G	NM_001199107.1	NP_001186036.1:p.(Lys25Arg)	NC_000016.9:g.2546223A>G	VUS	1 lab	57e1e2c5e5
17:73519423 TSEN54 T>C	17	73519423	73519423	T	C	TSEN54	c.1313+7T>C	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73519423T>C	(Likely) benign	1 lab	57e35a966f
20:49510415 ADNP TTCTTG>T	20	49510415	49510425	TTCTTG	T	ADNP	c.831_835del	NM_001282531.3	NP_001269460.1:p.(Asp277GlufsTer35)	NC_000020.10:g.49510421_49510425del	(Likely) pathogenic	1 lab	57e4256185
14:90455460 TDP1 G>A	14	90455460	90455460	G	A	TDP1	c.1317+26G>A	NM_018319.3	NP_060789.2:p.?	NC_000014.8:g.90455460G>A	(Likely) benign	1 lab	57e5876e5b
14:50101724 DNAAF2 G>T	14	50101724	50101724	G	T	DNAAF2	c.144C>A	NM_018139.2	NP_060609.2:p.(Asn48Lys)	NC_000014.8:g.50101724G>T	VUS	1 lab	57e6994d54
6:157100526 ARID1B C>G	6	157100526	157100526	C	G	ARID1B	c.1463C>G	NM_020732.3	NP_065783.3:p.(Pro488Arg)	NC_000006.11:g.157100526C>G	VUS	1 lab	57e72f25ca
7:106888918 COG5 A>G	7	106888918	106888918	A	G	COG5	c.1869T>C	NM_001161520.1	NP_001154992.1:p.(Ala623=)	NC_000007.13:g.106888918A>G	(Likely) benign	1 lab	57e7e495da
22:42301584 SREBF2 G>A	22	42301584	42301584	G	A	SREBF2	c.3346G>A	NM_004599.4	NP_004590.2:p.(Val1116Met)	NC_000022.10:g.42301584G>A	VUS	1 lab	57e89d8df9
19:11327935 DOCK6 C>T	19	11327935	11327935	C	T	DOCK6	c.3683G>A	NM_020812.3	NP_065863.2:p.(Arg1228Gln)	NC_000019.9:g.11327935C>T	VUS	1 lab	57e96de052
X:22186461 PHEX A>G	X	22186461	22186461	A	G	PHEX	c.1437A>G	NM_000444.5	NP_000435.3:p.(Pro479=)	NC_000023.10:g.22186461A>G	(Likely) benign	1 lab	57e992d12d
1:185972969 HMCN1 G>A	1	185972969	185972969	G	A	HMCN1	c.4468G>A	NM_031935.2	NP_114141.2:p.(Asp1490Asn)	NC_000001.10:g.185972969G>A	VUS	1 lab	57ea3d8065
2:24929741 NCOA1 T>G	2	24929741	24929741	T	G	NCOA1	c.1402T>G	NM_147223.3	NP_671756.1:p.(Ser468Ala)	NC_000002.11:g.24929741T>G	(Likely) benign	1 lab	57eb002c90
X:71792590 HDAC8 C>T	X	71792590	71792590	C	T	HDAC8	c.22G>A	NM_001166419.1	NP_001159891.1:p.(Ala8Thr)	NC_000023.10:g.71792590C>T	(Likely) benign	1 lab	57eb489e7e
1:38273705 YRDC G>A	1	38273705	38273705	G	A	YRDC	c.148C>T	NM_024640.4	NP_078916.3:p.(Leu50Phe)	NC_000001.10:g.38273705G>A	VUS	1 lab	57eb629ae9
10:123276856 FGFR2 G>C	10	123276856	123276856	G	C	FGFR2	c.1061C>G	NM_000141.4	NP_000132.3:p.(Ser354Cys)	NC_000010.10:g.123276856G>C	(Likely) pathogenic	1 lab	57ec200ec0
12:100934522 NR1H4 G>C	12	100934522	100934522	G	C	NR1H4	c.992G>C	NM_005123.4	NP_005114.1:p.(Arg331Pro)	NC_000012.11:g.100934522G>C	VUS	1 lab	f21fa9e4d4
2:179600622 TTN T>C	2	179600622	179600622	T	C	TTN	c.14551A>G	NM_001267550.1	NP_001254479.1:p.(Ile4851Val)	NC_000002.11:g.179600622T>C	VUS	1 lab	57ee9ea981
8:106431397 ZFPM2 T>A	8	106431397	106431397	T	A	ZFPM2	c.66T>A	NM_012082.3	NP_036214.2:p.(Asp22Glu)	NC_000008.10:g.106431397T>A	(Likely) benign	1 lab	57ef146d1f
16:87380864 FBXO31 A>C	16	87380864	87380864	A	C	FBXO31	c.413-8T>G	NM_024735.4	NP_079011.3:p.?	NC_000016.9:g.87380864A>C	(Likely) benign	1 lab	57ef9694d6
X:32328399 DMD A>G	X	32328399	32328399	A	G	DMD	c.5554-6T>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32328399A>G	(Likely) benign	1 lab	57effd3ffe
15:74327848 PML T>C	15	74327848	74327848	T	C	PML	c.2046T>C	NM_033239.2	NP_150242.1:p.(Pro682=)	NC_000015.9:g.74327848T>C	(Likely) benign	1 lab	57f2c32ff7
19:9019624 MUC16 G>A	19	9019624	9019624	G	A	MUC16	c.37522C>T	NM_024690.2	NP_078966.2:p.(Arg12508Trp)	NC_000019.9:g.9019624G>A	(Likely) benign	1 lab	57f4002a01
2:220082420 ABCB6 T>A	2	220082420	220082420	T	A	ABCB6	c.659A>T	NM_005689.2	NP_005680.1:p.(Glu220Val)	NC_000002.11:g.220082420T>A	(Likely) benign	1 lab	57f445e355
10:61831525 ANK3 G>A	10	61831525	61831525	G	A	ANK3	c.9114C>T	NM_020987.5	NP_066267.2:p.(Leu3038=)	NC_000010.10:g.61831525G>A	(Likely) benign	1 lab	57f7619f99
2:179474544 TTN T>C	2	179474544	179474544	T	C	TTN	c.51606A>G	NM_001267550.1	NP_001254479.1:p.(Val17202=)	NC_000002.11:g.179474544T>C	(Likely) benign	1 lab	57f7a55184
17:48275840 COL1A1 C>A	17	48275840	48275840	C	A	COL1A1	c.497G>T	NM_000088.3	NP_000079.2:p.(Gly166Val)	NC_000017.10:g.48275840C>A	VUS	1 lab	57f9213aa6
2:159526270 PKP4 G>A	2	159526270	159526270	G	A	PKP4	c.2767G>A	NM_003628.4	NP_003619.2:p.(Gly923Ser)	NC_000002.11:g.159526270G>A	(Likely) benign	1 lab	57f959159d
3:14190332 XPC T>G	3	14190332	14190332	T	G	XPC	c.2232A>C	NM_004628.4	NP_004619.3:p.(Pro744=)	NC_000003.11:g.14190332T>G	(Likely) benign	1 lab	57fcb843f5
4:113352339 ALPK1 C>T	4	113352339	113352339	C	T	ALPK1	c.1636C>T	NM_025144.4	NP_079420.3:p.(Arg546Ter)	NC_000004.11:g.113352339C>T	VUS	1 lab	57fdc4cb24
4:126412130 FAT4 C>G	4	126412130	126412130	C	G	FAT4	c.14159C>G	NM_001291303.1	NP_001278232.1:p.(Ala4720Gly)	NC_000004.11:g.126412130C>G	(Likely) benign	1 lab	57fe6c4df5
7:151879395 KMT2C T>C	7	151879395	151879395	T	C	KMT2C	c.5550A>G	NM_170606.2	NP_733751.2:p.(Pro1850=)	NC_000007.13:g.151879395T>C	(Likely) benign	1 lab	57ff772898
11:6567845 DNHD1 G>C	11	6567845	6567845	G	C	DNHD1	c.5676G>C	NM_144666.2	NP_653267.2:p.(Lys1892Asn)	NC_000011.9:g.6567845G>C	VUS	1 lab	58001da1ac
17:18024733 MYO15A G>T	17	18024733	18024733	G	T	MYO15A	c.2619G>T	NM_016239.3	NP_057323.3:p.(Arg873=)	NC_000017.10:g.18024733G>T	(Likely) benign	1 lab	58004678c5
15:77287850 PSTPIP1 G>A	15	77287850	77287850	G	A	PSTPIP1	c.131G>A	NM_001321137.1	NP_001308066.1:p.(Arg44His)	NC_000015.9:g.77287850G>A	VUS	1 lab	58008ab8e9
17:29528066 NF1 TA>T	17	29528066	29528068	TA	T	NF1	c.1076del	NM_001042492.3	NP_001035957.1:p.(Asn359IlefsTer17)	NC_000017.10:g.29528068del	(Likely) pathogenic	1 lab	5800a5a550
17:29665743 NF1 G>T	17	29665743	29665743	G	T	NF1	c.6778G>T	NM_000267.3	NP_000258.1:p.(Gly2260Ter)	NC_000017.10:g.29665743G>T	(Likely) pathogenic	1 lab	5800b3ac38
22:24176339 SMARCB1 G>A	22	24176339	24176339	G	A	SMARCB1	c.1130G>A	NM_003073.3	NP_003064.2:p.(Arg377His)	NC_000022.10:g.24176339G>A	VUS	1 lab	5802ab0261
X:10096747 WWC3 C>T	X	10096747	10096747	C	T	WWC3	c.2431C>T	NM_015691.3	NP_056506.2:p.(Arg811Trp)	NC_000023.10:g.10096747C>T	(Likely) benign	1 lab	5802f0f567
17:29654857 NF1 G>T	17	29654857	29654857	G	T	NF1	c.5546G>T	NM_000267.3	NP_000258.1:p.(Arg1849Leu)	NC_000017.10:g.29654857G>T	(Likely) pathogenic	1 lab	5804feb800
10:101483799 COX15 G>A	10	101483799	101483799	G	A	COX15	c.664C>T	NM_078470.4	NP_510870.1:p.(Arg222Cys)	NC_000010.10:g.101483799G>A	VUS	1 lab	5805eaaa7b
19:36224573 KMT2B G>A	19	36224573	36224573	G	A	KMT2B	c.7035G>A	NM_014727.2	NP_055542.1:p.(Gly2345=)	NC_000019.9:g.36224573G>A	(Likely) benign	1 lab	5806ac9fd0
13:78477686 EDNRB T>C	13	78477686	78477686	T	C	EDNRB	c.540A>G	NM_000115.4	NP_000106.1:p.(Ile180Met)	NC_000013.10:g.78477686T>C	VUS	1 lab	5808a76b9c
19:6935074 ADGRE1 C>T	19	6935074	6935074	C	T	ADGRE1	c.2366C>T	NM_001974.5	NP_001965.3:p.(Thr789Met)	NC_000019.9:g.6935074C>T	(Likely) benign	1 lab	58097fd087
17:29663808 NF1 C>T	17	29663808	29663808	C	T	NF1	c.6240C>T	NM_000267.3	NP_000258.1:p.(Pro2080=)	NC_000017.10:g.29663808C>T	(Likely) benign	1 lab	580b060bbb
6:24495399 ALDH5A1 C>T	6	24495399	24495399	C	T	ALDH5A1	c.175C>T	NM_170740.1	NP_733936.1:p.(Leu59=)	NC_000006.11:g.24495399C>T	VUS	1 lab	580bd78dcf
2:241659274 KIF1A C>T	2	241659274	241659274	C	T	KIF1A	c.4938G>A	NM_001244008.1	NP_001230937.1:p.(Lys1646=)	NC_000002.11:g.241659274C>T	(Likely) benign	1 lab	580d1dab1f
6:32820901 TAP1 G>A	6	32820901	32820901	G	A	TAP1	c.693C>T	NM_000593.5	NP_000584.2:p.(Asn231=)	NC_000006.11:g.32820901G>A	(Likely) benign	1 lab	580f02bf1e
2:179427758 TTN C>A	2	179427758	179427758	C	A	TTN	c.83101G>T	NM_001267550.1	NP_001254479.1:p.(Gly27701Cys)	NC_000002.11:g.179427758C>A	VUS	1 lab	580f61be67
2:179639792 TTN C>A	2	179639792	179639792	C	A	TTN	c.6646G>T	NM_001267550.2	NP_001254479.2:p.(Glu2216Ter)	NC_000002.11:g.179639792C>A	(Likely) pathogenic	1 lab	f226f874f0
9:133914321 LAMC3 C>T	9	133914321	133914321	C	T	LAMC3	c.1047C>T	NM_006059.3	NP_006050.3:p.(Gly349=)	NC_000009.11:g.133914321C>T	(Likely) benign	1 lab	5812617691
13:51501529 RNASEH2B C>T	13	51501529	51501529	C	T	RNASEH2B	c.65-14C>T	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51501529C>T	(Likely) benign	1 lab	5815adeba1
X:1553929 ASMTL T>C	X	1553929	1553929	T	C	ASMTL	c.386A>G	NM_004192.3	NP_004183.2:p.(His129Arg)	NC_000023.10:g.1553929T>C	VUS	1 lab	5d0861b03a
9:101911583 TGFBR1 T>C	9	101911583	101911583	T	C	TGFBR1	c.1508T>C	NM_004612.3	NP_004603.1:p.(Met503Thr)	NC_000009.11:g.101911583T>C	(Likely) benign	1 lab	5815b7f56f
17:38785151 SMARCE1 G>A	17	38785151	38785151	G	A	SMARCE1	c.1122C>T	NM_003079.4	NP_003070.3:p.(Val374=)	NC_000017.10:g.38785151G>A	(Likely) benign	1 lab	5818474772
21:47855971 PCNT G>A	21	47855971	47855971	G	A	PCNT	c.8906G>A	NM_006031.5	NP_006022.3:p.(Arg2969Gln)	NC_000021.8:g.47855971G>A	(Likely) benign	1 lab	58190d9980
1:1469394 ATAD3A A>T	1	1469394	1469394	A	T	ATAD3A	c.1847A>T	NM_018188.4	NP_060658.3:p.(Lys616Met)	NC_000001.10:g.1469394A>T	VUS	1 lab	581a0df198
2:39178158 MISSING G>A	2	39178158	39178158	G	A	MISSING				NC_000002.11:g.39178158G>A	VUS	1 lab	581bb88ec5
X:153297907 MECP2 T>C	X	153297907	153297907	T	C	MECP2	c.128A>G	NM_004992.3	NP_004983.1:p.(His43Arg)	NC_000023.10:g.153297907T>C	(Likely) benign	1 lab	581d8d0581
4:69097021 TMPRSS11B A>G	4	69097021	69097021	A	G	TMPRSS11B	c.586T>C	NM_182502.3	NP_872308.2:p.(Trp196Arg)	NC_000004.11:g.69097021A>G	VUS	1 lab	581df4f4f8
1:19561655 EMC1 G>A	1	19561655	19561655	G	A	EMC1	c.1401C>T	NM_015047.2	NP_055862.1:p.(Ala467=)	NC_000001.10:g.19561655G>A	(Likely) benign	1 lab	581dfb660e
2:241725794 KIF1A TAGG>T	2	241725794	241725800	TAGG	T	KIF1A	c.563_565del	NM_001244008.2	NP_001230937.1:p.(Ser188del)	NC_000002.11:g.241725798_241725800del	VUS	1 lab	581eb2b890
16:88788805 PIEZO1 A>G	16	88788805	88788805	A	G	PIEZO1	c.4776T>C	NM_001142864.4	NP_001136336.2:p.(Ser1592=)	NC_000016.9:g.88788805A>G	(Likely) benign	1 lab	581fe3fd12
3:187416759 RTP2 G>A	3	187416759	187416759	G	A	RTP2	c.205C>T	NM_001004312.2	NP_001004312.2:p.(His69Tyr)	NC_000003.11:g.187416759G>A	(Likely) benign	1 lab	5820ae6f4c
2:182403859 CERKL C>T	2	182403859	182403859	C	T	CERKL	c.1576G>A	NM_001030311.2	NP_001025482.1:p.(Asp526Asn)	NC_000002.11:g.182403859C>T	VUS	1 lab	5822cbb52d
6:32029166 TNXB C>T	6	32029166	32029166	C	T	TNXB	c.7492+8G>A	NM_019105.6	NP_061978.6:p.?	NC_000006.11:g.32029166C>T	(Likely) benign	1 lab	58243a7dc7
12:31237904 DDX11 G>T	12	31237904	31237904	G	T	DDX11	c.482G>T	NM_030653.3	NP_085911.2:p.(Arg161Met)	NC_000012.11:g.31237904G>T	VUS	1 lab	582442e915
3:180377370 CCDC39 T>C	3	180377370	180377370	T	C	CCDC39	c.610-2A>G	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180377370T>C	(Likely) pathogenic	1 lab	5824531c2d
1:247694906 OR2C3 C>T	1	247694906	247694906	C	T	OR2C3	c.908G>A	NM_198074.4	NP_932340.3:p.(Arg303Gln)	NC_000001.10:g.247694906C>T	(Likely) benign	1 lab	5825cc8be1
21:46896303 COL18A1 C>A	21	46896303	46896303	C	A	COL18A1	c.2082C>A	NM_130444.3	NP_569711.2:p.(Pro694=)	NC_000021.8:g.46896303C>A	(Likely) benign	1 lab	58263175c3
2:98996792 CNGA3 C>G	2	98996792	98996792	C	G	CNGA3	c.370C>G	NM_001298.2	NP_001289.1:p.(Gln124Glu)	NC_000002.11:g.98996792C>G	(Likely) benign	1 lab	58295fc724
X:18622936 CDKL5 T>C	X	18622936	18622936	T	C	CDKL5	c.1892T>C	NM_001323289.1	NP_001310218.1:p.(Ile631Thr)	NC_000023.10:g.18622936T>C	VUS	1 lab	582a6b11c7
19:45998058 RTN2 T>C	19	45998058	45998058	T	C	RTN2	c.285A>G	NM_005619.4	NP_005610.1:p.(Glu95=)	NC_000019.9:g.45998058T>C	(Likely) benign	1 lab	582ab28d7b
11:76901071 MYO7A C>G	11	76901071	76901071	C	G	MYO7A	c.3637C>G	NM_000260.3	NP_000251.3:p.(Arg1213Gly)	NC_000011.9:g.76901071C>G	VUS	1 lab	582ad9d91d
5:147211088 SPINK1 G>A	5	147211088	147211088	G	A	SPINK1	c.53C>T	NM_001354966.1	NP_001341895.1:p.(Ser18Phe)	NC_000005.9:g.147211088G>A	VUS	1 lab	582b7add11
2:241661926 KIF1A G>A	2	241661926	241661926	G	A	KIF1A	c.4612C>T	NM_001244008.1	NP_001230937.1:p.(Arg1538Cys)	NC_000002.11:g.241661926G>A	VUS	1 lab	582bac1f1b
22:21213632 SNAP29 C>G	22	21213632	21213632	C	G	SNAP29	c.234C>G	NM_004782.3	NP_004773.1:p.(Ser78=)	NC_000022.10:g.21213632C>G	(Likely) benign	1 lab	583143c22b
12:53701500 AAAS G>A	12	53701500	53701500	G	A	AAAS	c.1417-3C>T	NM_015665.5	NP_056480.1:p.?	NC_000012.11:g.53701500G>A	(Likely) benign	1 lab	5835157847
7:102294074 SPDYE2B T>C	7	102294074	102294074	T	C	SPDYE2B	c.337T>C	NM_001166339.1	NP_001159811.1:p.(Ser113Pro)	NC_000007.13:g.102294074T>C	(Likely) benign	1 lab	5835bbd33b
16:53720408 RPGRIP1L CT>C	16	53720408	53720409	CT	C	RPGRIP1L	c.712del	NM_015272.5	NP_056087.2:p.(Arg238GlufsTer29)	NC_000016.9:g.53720409del	(Likely) pathogenic	1 lab	5836ab0f29
16:53691450 RPGRIP1L T>G	16	53691450	53691450	T	G	RPGRIP1L	c.1496A>C	NM_015272.4	NP_056087.2:p.(Gln499Pro)	NC_000016.9:g.53691450T>G	VUS	1 lab	583767c284
16:70900215 HYDIN C>T	16	70900215	70900215	C	T	HYDIN	c.11328G>A	NM_001270974.2	NP_001257903.1:p.(Pro3776=)	NC_000016.9:g.70900215C>T	(Likely) benign	1 lab	583921b614
8:27634207 ESCO2 G>A	8	27634207	27634207	G	A	ESCO2	c.382G>A	NM_001017420.2	NP_001017420.1:p.(Gly128Arg)	NC_000008.10:g.27634207G>A	(Likely) benign	1 lab	583afe70a7
7:92136386 PEX1 C>T	7	92136386	92136386	C	T	PEX1	c.1101G>A	NM_001282678.1	NP_001269607.1:p.(Leu367=)	NC_000007.13:g.92136386C>T	(Likely) benign	1 lab	583bb88039
X:50052158 CCNB3 T>C	X	50052158	50052158	T	C	CCNB3	c.989T>C	NM_033031.2	NP_149020.2:p.(Leu330Pro)	NC_000023.10:g.50052158T>C	(Likely) benign	1 lab	583c17672e
3:10083387 FANCD2 T>C	3	10083387	10083387	T	C	FANCD2	c.776T>C	NM_033084.3	NP_149075.2:p.(Leu259Pro)	NC_000003.11:g.10083387T>C	VUS	1 lab	583c6385fe
21:34725061 IFNAR1 T>C	21	34725061	34725061	T	C	IFNAR1	c.1144-3T>C	NM_000629.3	NP_000620.2:p.?	NC_000021.8:g.34725061T>C	(Likely) benign	1 lab	583f04986e
12:49442885 KMT2D T>G	12	49442885	49442885	T	G	KMT2D	c.4020+3A>C	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49442885T>G	VUS	1 lab	f22ffa07c1
16:3828037 CREBBP T>C	16	3828037	3828037	T	C	CREBBP	c.2088A>G	NM_004380.2	NP_004371.2:p.(Pro696=)	NC_000016.9:g.3828037T>C	(Likely) benign	1 lab	583fb47635
12:49434998 KMT2D C>T	12	49434998	49434998	C	T	KMT2D	c.6555G>A	NM_003482.3	NP_003473.3:p.(Leu2185=)	NC_000012.11:g.49434998C>T	(Likely) benign	1 lab	5842d0ab22
20:50408525 SALL4 T>TG	20	50408525	50408531	T	TG	SALL4	c.496dup	NM_020436.3	NP_065169.1:p.(Gln166ProfsTer15)	NC_000020.10:g.50408531dup	(Likely) pathogenic	1 lab	5842d1ea81
5:150947891 FAT2 C>G	5	150947891	150947891	C	G	FAT2	c.602G>C	NM_001447.2	NP_001438.1:p.(Gly201Ala)	NC_000005.9:g.150947891C>G	(Likely) benign	1 lab	5842fb4828
15:28479425 HERC2 G>A	15	28479425	28479425	G	A	HERC2	c.4009C>T	NM_004667.5	NP_004658.3:p.(Leu1337Phe)	NC_000015.9:g.28479425G>A	(Likely) benign	1 lab	58432e26ff
17:649687 GEMIN4 C>G	17	649687	649687	C	G	GEMIN4	c.1596G>C	NM_015721.2	NP_056536.2:p.(Gln532His)	NC_000017.10:g.649687C>G	(Likely) benign	1 lab	584387ab45
15:85186876 WDR73 ACTTGGCTCCGTGTTCCAT>A	15	85186876	85186913	ACTTGGCTCCGTGTTCCAT	A	WDR73	c.944_961del	NM_032856.5	NP_116245.2:p.(Asp315_Gln320del)	NC_000015.9:g.85186896_85186913del	(Likely) benign	1 lab	5843fc3cbd
6:76624712 MYO6 CAG>C	6	76624712	76624716	CAG	C	MYO6	c.3844_3845del	NM_004999.4	NP_004990.3:p.(Leu1283ValfsTer39)	NC_000006.11:g.76624715_76624716del	VUS	1 lab	5844570bd8
1:201177247 IGFN1 G>A	1	201177247	201177247	G	A	IGFN1	c.3226G>A	NM_001164586.1	NP_001158058.1:p.(Gly1076Ser)	NC_000001.10:g.201177247G>A	VUS	1 lab	5844ae49dd
22:26860585 HPS4 C>T	22	26860585	26860585	C	T	HPS4	c.1011G>A	NM_001349898.1	NP_001336827.1:p.(Arg337=)	NC_000022.10:g.26860585C>T	(Likely) benign	1 lab	58463af98d
1:94543389 ABCA4 C>T	1	94543389	94543389	C	T	ABCA4	c.1411G>A	NM_000350.2	NP_000341.2:p.(Glu471Lys)	NC_000001.10:g.94543389C>T	(Likely) pathogenic	1 lab	583f2a9b65
2:24439076 ITSN2 C>T	2	24439076	24439076	C	T	ITSN2	c.3832G>A	NM_006277.2	NP_006268.2:p.(Gly1278Arg)	NC_000002.11:g.24439076C>T	VUS	1 lab	5846433148
16:21726319 OTOA A>G	16	21726319	21726319	A	G	OTOA	c.1334A>G	NM_144672.4	NP_653273.3:p.(Tyr445Cys)	NC_000016.9:g.21726319A>G	VUS	1 lab	584694b246
12:76424411 PHLDA1 G>A	12	76424411	76424411	G	A	PHLDA1	c.1111C>T	NM_007350.3	NP_031376.3:p.(His371Tyr)	NC_000012.11:g.76424411G>A	(Likely) benign	1 lab	584708d84a
19:12858404 GET3 C>T	19	12858404	12858404	C	T	GET3	c.913C>T	NM_004317.3	NP_004308.2:p.(Gln305Ter)	NC_000019.9:g.12858404C>T	VUS	1 lab	584836a2cc
7:103338408 RELN T>C	7	103338408	103338408	T	C	RELN	c.1035A>G	NM_005045.3	NP_005036.2:p.(Leu345=)	NC_000007.13:g.103338408T>C	(Likely) benign	1 lab	584948b60f
10:50732432 ERCC6 C>T	10	50732432	50732432	C	T	ERCC6	c.1044G>A	NM_000124.2	NP_000115.1:p.(Leu348=)	NC_000010.10:g.50732432C>T	(Likely) benign	1 lab	584aeb751c
17:62079174 PRR29 C>G	17	62079174	62079174	C	G	PRR29	c.550C>G	NM_001191029.1	NP_001177958.1:p.(Pro184Ala)	NC_000017.10:g.62079174C>G	VUS	1 lab	584b1b9716
2:136562354 LCT C>A	2	136562354	136562354	C	A	LCT	c.4447G>T	NM_002299.2	NP_002290.2:p.(Ala1483Ser)	NC_000002.11:g.136562354C>A	VUS	1 lab	584c06c74a
3:30032704 RBMS3 AGTCTGGGCTGTGCTAAGCTCTTTTCCTCAAGATCAGCCATCTTGACATCACTCTCTCATGTTGTATGTGTTAGCTTTTGCTGAAATATAAACCATCCCAAACTTAGCAACAGGCATTTATTTAGCTCATGATTATGTGGGTTTGAAATTTGGGCTAACTTTGGGTGGATGGTTCTTCTGATCTTGACAGGAATCAAACATCTAGGAACAGCTGCTGATTATCTATGCATCTCTGCTTCTGGGTGTTGCTAGCTGTTGGATGTGTGATGGAAGTGACTAGGCCATATGTTTCTGATCCTCCAGCAGGCTAATTCACATGGAAGTCTCAGAATTTCAAGAATAGTAAAGAGCAAGCCCAAATGTACAAGCACTCTTAATTCTGTTTATTACTAATTTTCTACTGTCTCATTAGCCAAAGCAAGTCACTTGGCCAAACAGTCAATGTAGCAGTTCACTTTGAAAAAGCTTGATATAGAGAGAGGCACTGCAGCCATTAAAAAAAAAAGCTACCATATTTATTATTGGAAAAATTATAATATTCCTACCTGAAACTGAATAGAGTCTCAGTCTCCTCACTCTTAAAGGAAGACAGTAACACTCCCCCTTGTAGGGTTACTTTGAATACACAGTTAAATGTCGATGAAAAAGGGTATTGTAAGATATGAAGCAATATAAAATATGGTCTTATTCAGGAATAAAATGGCAAGGATTTTCAGAATTACTCTTGAAAATCCTTAAATCACTCATAATGCAAAGTACATTTGGCTTTGTGTTGAGTAAACATTTGGCAAACTTTGGTAAAGTTTGAGGGCTGTTTATTGAAACCAAAAGAATTTAGAAAAGTAAAGTCTTCATACAAGTGTCTTGGCATGCAAACTATTCAACTTTGTAGATAGCAATAAAATCCCTGATGAATAGAGAATCCCCCGACAATCCTGCCTGTCTACAGAGTGCTGCTCCGTTATTTAAAATAATTTTTCTTATTAAAGAAAAAAAATATTCTGATATTTGTTAAAACATTAAGAAATAATTTATTTATTAGGTTGGTACAAAAGTAATTGCGGTTTTTGCCATTAAAAACCATAGGTATTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACTTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCACCTACTCTGGGGTCGGGGTGGGGGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCAGCTTGCGGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAACTATAGGTATTAAAATTATTGCAATAGGGGAAGAGAGAGCATGCTCAGTTCAGAACACAGCAAAGACAGCTGGGGATCTGTAGCCAACAAGCCGAGTGAGGGGGTCAGTGAGTGGGGAATTACTGCTAACCTAAATTGACAGGATTTTTGCTGAAGGCAGATCAAGGAATGATAAGATCAAATGTAGGGGATGAGAAAATTGATCAGATATTGAGGGTGGTCATATCAACGATAGGCTATTCTCTTTAAACTGACTTAGCAAGATTCTTGCTAAAACTAGGCTATAAAGAACTGGCAAGAATGGGGGCAAAAGTCTACGCCTACTCAAGAAGGGGACTCAGTAGCCTGACTAAAAGTTGAGCAAGAAGAGAATCTGTCACTTTTTAACTTCAGTATACATTAAGAGATTTGTTTGTTAGATTCATCAAAGCAGTAAACTCTATTATGTGTGGTTTAGGTCTAAAGTCAGTTTTACAAATTAAATTTGCTCAGAATATGACTTAAACTTACAAATGTAAGGTATTATTATGATTGCCATTATTAATAGCAATAATGACTTTCAGAAAAGATTGTTACTGAGTAAAGCCATATGTTATTGTTAATTTAATTGACATAGCCTGTGTGAATCACTTTTATGTGCAAAACTAATACTGTGGTAGACTCTGAAACTCCAGTCCAAGCATATTGAAATTTTTTTTCAGCCTGGTCAACGGGTTATATGTGGGGAAAGGAGCAGATATTGGCTATGTATAAAGCATAGCAAGAGACATTGATTGGTGGGAGATGAGAAATACTGTGGGTAATGGGAAATTTTATGTGACCATTTGACTGAGCCACAGGGTACCCATATATTTGGCAAAACAATATTTCTGGGTATGTCTGTGAGGGTGATTTTGGATGAGGTTAATATTTGAATCAGTTAAAGCAGATTCCACCCCCCACTGTGGGAGGCTTCCATCCAATCAGTTAGTTGAACCCCTGAATAGAGCAAAAAGATTGAACCTCTCATGAATGAAGAAGAAGGAACTCCTGTTACTTGACTGCTAGAGCTAGGACATTGGTCTTTTCCTGCCTTTGAACTTAAACAAAAATATTGGTTCTTCTTAGATCTTGAGCCTGCCAGCTATAGAACTAGAATTTACATCAACTCTTTCAGTTCTCAGACTTTCAGACTCAAACTAGAATTACACTGTTGGCTCTCCTGGGTCTCCAGTCTGCCAGCTGCAGATCATTGTAGATCATGGGACTTCTCAATCTTAATAATTGTGCAAGTCAATTTCTTATTTTAAAAAATCTCTGTATCGGGGGGAGGAACCAAGATGGCCGAATAGGAACAGCTCCAGTCTACAGCTCCCAGTGTGAGCGACGCAGAAGATGGGTGATTTCTGCATTTCCATCTGATGTACCGGGTTCATCTCACTAGGGAGTGCCAGACTGGGCGCAGGTCAGTGGGTGCATGCACCGTGCGCAAGCCGAAGCAGGGCGAGGCATTGCCTCACTTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCTGAGTCAAAGAAAGGGGTGACGGACGGCACCTGGAAAATCGGGTCACTCCCACCCAAATACTGCACTTTTCCCACGGGCTTAAAAAATGGCGCACCACAAGATTATATCCCGCACCTGGCTCGGAGGGTCCTACCCCCACGGAGTCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAGTGAGGCTGGGGGAGGGGCACCCGCCATTGCCCAGGCTTGATTAGGTAAACAAAGCATCCCGGAAGCTCCAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGACAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAATGTCTCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAATGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGATCCTCTCTGTTAGAAGGAAAACTAACAAACAGAAAGGACATCCACACCAAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGGAAAACTGGAAACTCTAAAACGCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACGGAACAAAGCTGGATGGAGAATGACTTTGACGAGCTGAGAGAAGAAGGCTTCAGAAGATCAAATTACTCTGAGCTATGGGAGGACATTCAAACCAAAGGCAAAGAAGTCAAAAACTTTGAAACAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGGGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCAAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGGATCAGCAATGGAAGATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACATCTGATTGGTGTACCTGAAAGTGATGGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCCATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGGAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCAGCAGAAACTCTACTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAATCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAAACAAGCAAGTGTTGAGAGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTAAAGGAAGCACTAAACATGGAAAGGAACAACCGGTACCAGCCACTGCAAAATCATGCCAAAATGTAAAGACCATCAAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATCAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACTTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAAGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCAAGATTCATAAAGCAAGTCCTTAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCGGACCTAATAGACACCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATACTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACTGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAACCAACAAGAACAAAGACACAACATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCTAAAATTGACACCCTAATATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAGGGAAATAGAGACACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAAAAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACACATACACTCTCTCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGAACTGAAATTGTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGATCACATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGGCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACAAAAAAAGAGAATTTGAGACCGATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAAACGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGAGGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTTAATAAATTAGGTATCGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATTGTGTTGGAAGTTCTGGCCAGGGCAATCAGCCAGGAGAAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATCATCTCAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGAACTCTTATACACCAATAACAGACAAACAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGAGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAATTGGCCATACTGCCCAAGGTAATTGATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGTTACAGTAACCAAAGCAGCATGGTACTGGTACCAAAACAGAGATACAGACCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTAATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTGAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATTAATTCAAGATGGATGGATTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACTCTAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACTAGAAAAAAACAAAAAACCCCATCAAAAAGTGGGCAAAGAATATGATCAGACACTTCTCAAAAGAAGACATTTATGCAGCCACAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATATCATGTTACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAAACATTGTAGAAGTCAGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGGCACATGCACATGTATGTTTATAGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCTAAATGTCCAAATAGTCTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCACAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCCCAGCAAACTATCACAAGGACAAAAAACCAAATACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTTGTGGGGTGGGGGGAGTGGGGAGGGATAACATTAGGAGATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTGTACATATGTAACAAACCTGCACATTGTGCACCTGTACCCTAAAACTTAAAGTATAATAATAATAAAATAATAATTTAAAAAAAGACCTAAAACCATAAAAACCCTAGAAGAAAATCAGGACATAGGCATGGGCAAAGACTTCATGCCTAAAACACCAAAAGCAACAGCAAAAAGAAGCCAAACTAGACAAATGGGATCTAATTAAACTAAAGAACTTCTGCACAGCAAAAGAAACTATCATCAGGGTGAACAGGCAACGTACAGAATGGGAGAAAATGTTTGCAATCTACCCATCTGACAAAGGTCTAATATCCAGAATCTACAAAGAACTTGAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTAAACAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAAACATGAAAAAAAGCTCATCACCACTGATTATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATTTCATGCCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGATGCTGGAGAGGATATGGAGAAATAGGAATACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAGGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCCCACGAATGTTTACTGTGGCACTGTTCACAATAGCAAAGAGTTGGAACCAACCCAAATGCCCATTAATGATAGACTTGATAAAGAAAATGTGGCATATATACACCATGGAATACCATGCAGTCATAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATATTCTCACTCATAAGTGGGAGTTGAACAGTGAGAACATGGACATCGGGGGTGGGCGCATCACATACTGGGGCCTGTCAGGGAGTGGGGGACTAAGGAAGGGATAATATTAGGATAAATACCTAATGTAGTTGATGGGTTGATGGGTACAGCAAATCACCATGGCATGTGTGTATACCTATGTAACAAACCTGCACGTTCTGCATATGTATCCCAGAACTTAAAGTATAATAAAAAAAAGAAAAGAAAAATTAAATTATTAAAGAAGTCTAACAGTTTCATCTACAATTTGTAATTTAGATACCTATGTAATTCTTTCAAGGACAATTTTTTTAAATATTCATGGCTTTCTTTATGGGTTCCCTAACCACTTCTTTAAGTTTACCTGTGAGTAATCCAGTAGAGGGAATATACTGTGACATTTTTCCACACTCTGGATCACAGAATCCCACTTTTTACATAGCATTACATGAAGCTAGTCTGTCAGGAATTATTCTGGAAAATATTGCTTCATTTGGCTATCTCTGAGACTTCCTCCTCCTCTAAAATAGATTTCTAAGATTATCGTTTGTTACGTTCCAATATATTCACTGTGCCTTTTTTTTGAGGGTGGAGGAGTGAGGAGAGGATTCAAAATGACTCTGTATTCTTAAATTCAGTGAAATTCCTACTCTACCATATTTACTCTGACTTTAGAAGGCCCTCATCTCAACCCTGGTATTGCAAGTTCTTTTTATACTTCAAATCTTCTCTGGCTAACTGAACTGCCATGAATACCAAATTTCTATACATTGTCAGTATATCAATGATGAGCAAATTATGTCCTTCACATTTGTGAGTAATACAACATTCTATGTATTATAATATATTGTAATAATACATTGTATGTGCACTGTTTTACCGTTTGCAATTGATTTCCATACTCATTATTTCTTCACATGAATTCCTGTTTTCAAGTTATTTCTTTTTATTTTATTTCTTATTTTATTATTTATTTTATTTATTTATTTTATTTCTAAAATGTCCAACTTAAAATGTTCTTGTTGCCAAAGATCCCAGCCTAAAAAAAATTAAAACCCTTCTGTTTTTAGGAATTTCAGTGCAATCCATAAGTATTATGTAAATGTGCACATTCACATTTATTCTAGGACAGAGGAGATCGGCAGGAGTGAATTCAGTTCTTTGAAATGGCAAGATCCTTTTTACTTCAAACTTCAGCCAGCAAATATGAAGTTGTAAAGTACTACCATCTATTTGCCATCATTTGTTTTCATGTGGCAATGGGACCATTTTAAAGACCAAGCAAATTATGGGAGAGGGCTATTGGAAACATTTGTGTACAGTTATAAAACCTAAAGTAGTTCCAGCCTAGCTCATAAATATATCAATGCTTTTGAGACCAGTGAATATCAAGTACTTGAGCTTGATGGGTCAGGTATTCTATGCACTGTAGTCCACTGAATAAGACATCATTCACTGAGCAGCTGCTAAAGAGATTCATGGTGTTTTAGGCATTTTTGGTTCAGTACACAATAATACCAGAGTAGAAGATGGGAGTGAGAACAAAGAACAGACTCTCCCCCAACACACACACACATACACACACAACTATATAACCAAGAAAAAAAATTGTTCCCTTAGTAATATAGATTTTTAGACATAAATGGAGTAAGTCTATAGTTTGCAAAGCTAGAGACAGTTAAAATATAAACCATGGTTCCCATGACTACCACTAATAAAATTTTTTCTTATTGTTGCTACTGTATGAAAATTGTAATTGCTTTACTTCTTAGAAGATATCTCACTTTCTCATATAACACAGTAATATATTTTTAGGGACTTAACCTATTGATAAAAATTGAATATTCGATCTCTCAACTAGTTGCTTTCCTCACATGATTTTAGGAAGAAATTAATCAGGTTCCTAATTGCCGTAGCTGGCTCACATGATGGCTTTTTGCAAATCAGGAAACTATGTCCTTTCCAGGCCATCTCAAGCTAAACAATACACAGTTTAAAACACTGTGAATTGGGGTTACAGCTTTCCTGCAGGGTACATACCTTGGGGAGCAGACGATGGGCTGAAATTTAGCCCCCACTCCCTCAATCATACATCTTATATAGTAAACAATCTGTAAAACTATACATAGTAACACTGAGTCAAATTTACTAAATTAAGCAACTGTGCATCAGAAGAACTTGCATAACTTTTTGCTGGCATCCAATACCCTGAGCAAAGAGGCCTTCAGCTAAATGTAACTTACAGAGATAATATAGAGGTCCTTCTTTCTATAGCACCACTCTGAAGTTATTTTACAAACTTCTAATCTGTGGGCAAAAAAGCTAAGAGTAAAGTCATCCTGCTGGAAGGTTAACCTTGCAACATAGAAGGGGCAGTAGCAGAAGTCTTTATTTGACATGAGCTAAGCAAAGTGGCATATAGTAAAATGATATTTTTCTAGTTAAACACCTATTGTGTATATACCACTCTGCCTAAAGGGTAAAGGGTAGAAGTAAAATATAGTTCCTGCTCTCACAAATTTATAATCTTGACAGGGGGAATGAACAAGAAAGTAGAGAAGGGGAAGAGGAAAAGAGAATAAAACTGCATTGGCCTCTTAACTGTCTCACTTATTTCCTCAGGCAATAAGCCTTATGTAAATGTACGTGATGAATACCATGAGATAACATACAACCCAGTTATTTTGGGTGCATAGTAAAGAATCTCATATTTGTTGCTGGAATTAGTGATGATTCCTATAGTAGTTTTGAAGGAACAGAATTACTCAAAGGATCTGTAAGGAGCTATAACATAAGCTATTACCCTTGATTTTTAATGTAAACAAACTCTCTGGCCCAAATCTGTATTTAAATGAAAGTGGCAGAATTTGACAATCTCATAGACTCAGTATGATTTTATGATGCTTTTGTGACTATGTTACATTGAAAGCTTGGTATCTTTTAAAGCTGCCTCATTGGAAAAGGGCACAGAAGGTGATTTCAAAGTTACTTTAATTTAATGACCACTCTTATTCAATTGTTTTCACAG>A	3	30032704	30045346	AGTCTGGGCTGTGCTAAGCTCTTTTCCTCAAGATCAGCCATCTTGACATCACTCTCTCATGTTGTATGTGTTAGCTTTTGCTGAAATATAAACCATCCCAAACTTAGCAACAGGCATTTATTTAGCTCATGATTATGTGGGTTTGAAATTTGGGCTAACTTTGGGTGGATGGTTCTTCTGATCTTGACAGGAATCAAACATCTAGGAACAGCTGCTGATTATCTATGCATCTCTGCTTCTGGGTGTTGCTAGCTGTTGGATGTGTGATGGAAGTGACTAGGCCATATGTTTCTGATCCTCCAGCAGGCTAATTCACATGGAAGTCTCAGAATTTCAAGAATAGTAAAGAGCAAGCCCAAATGTACAAGCACTCTTAATTCTGTTTATTACTAATTTTCTACTGTCTCATTAGCCAAAGCAAGTCACTTGGCCAAACAGTCAATGTAGCAGTTCACTTTGAAAAAGCTTGATATAGAGAGAGGCACTGCAGCCATTAAAAAAAAAAGCTACCATATTTATTATTGGAAAAATTATAATATTCCTACCTGAAACTGAATAGAGTCTCAGTCTCCTCACTCTTAAAGGAAGACAGTAACACTCCCCCTTGTAGGGTTACTTTGAATACACAGTTAAATGTCGATGAAAAAGGGTATTGTAAGATATGAAGCAATATAAAATATGGTCTTATTCAGGAATAAAATGGCAAGGATTTTCAGAATTACTCTTGAAAATCCTTAAATCACTCATAATGCAAAGTACATTTGGCTTTGTGTTGAGTAAACATTTGGCAAACTTTGGTAAAGTTTGAGGGCTGTTTATTGAAACCAAAAGAATTTAGAAAAGTAAAGTCTTCATACAAGTGTCTTGGCATGCAAACTATTCAACTTTGTAGATAGCAATAAAATCCCTGATGAATAGAGAATCCCCCGACAATCCTGCCTGTCTACAGAGTGCTGCTCCGTTATTTAAAATAATTTTTCTTATTAAAGAAAAAAAATATTCTGATATTTGTTAAAACATTAAGAAATAATTTATTTATTAGGTTGGTACAAAAGTAATTGCGGTTTTTGCCATTAAAAACCATAGGTATTAGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTATGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAACTTAGCTGGGCATGGTGGCGGGTGCCTGTAGTCCCACCTACTCTGGGGTCGGGGTGGGGGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCAGCTTGCGGTGAGCAGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAAAAAAAAGAACTATAGGTATTAAAATTATTGCAATAGGGGAAGAGAGAGCATGCTCAGTTCAGAACACAGCAAAGACAGCTGGGGATCTGTAGCCAACAAGCCGAGTGAGGGGGTCAGTGAGTGGGGAATTACTGCTAACCTAAATTGACAGGATTTTTGCTGAAGGCAGATCAAGGAATGATAAGATCAAATGTAGGGGATGAGAAAATTGATCAGATATTGAGGGTGGTCATATCAACGATAGGCTATTCTCTTTAAACTGACTTAGCAAGATTCTTGCTAAAACTAGGCTATAAAGAACTGGCAAGAATGGGGGCAAAAGTCTACGCCTACTCAAGAAGGGGACTCAGTAGCCTGACTAAAAGTTGAGCAAGAAGAGAATCTGTCACTTTTTAACTTCAGTATACATTAAGAGATTTGTTTGTTAGATTCATCAAAGCAGTAAACTCTATTATGTGTGGTTTAGGTCTAAAGTCAGTTTTACAAATTAAATTTGCTCAGAATATGACTTAAACTTACAAATGTAAGGTATTATTATGATTGCCATTATTAATAGCAATAATGACTTTCAGAAAAGATTGTTACTGAGTAAAGCCATATGTTATTGTTAATTTAATTGACATAGCCTGTGTGAATCACTTTTATGTGCAAAACTAATACTGTGGTAGACTCTGAAACTCCAGTCCAAGCATATTGAAATTTTTTTTCAGCCTGGTCAACGGGTTATATGTGGGGAAAGGAGCAGATATTGGCTATGTATAAAGCATAGCAAGAGACATTGATTGGTGGGAGATGAGAAATACTGTGGGTAATGGGAAATTTTATGTGACCATTTGACTGAGCCACAGGGTACCCATATATTTGGCAAAACAATATTTCTGGGTATGTCTGTGAGGGTGATTTTGGATGAGGTTAATATTTGAATCAGTTAAAGCAGATTCCACCCCCCACTGTGGGAGGCTTCCATCCAATCAGTTAGTTGAACCCCTGAATAGAGCAAAAAGATTGAACCTCTCATGAATGAAGAAGAAGGAACTCCTGTTACTTGACTGCTAGAGCTAGGACATTGGTCTTTTCCTGCCTTTGAACTTAAACAAAAATATTGGTTCTTCTTAGATCTTGAGCCTGCCAGCTATAGAACTAGAATTTACATCAACTCTTTCAGTTCTCAGACTTTCAGACTCAAACTAGAATTACACTGTTGGCTCTCCTGGGTCTCCAGTCTGCCAGCTGCAGATCATTGTAGATCATGGGACTTCTCAATCTTAATAATTGTGCAAGTCAATTTCTTATTTTAAAAAATCTCTGTATCGGGGGGAGGAACCAAGATGGCCGAATAGGAACAGCTCCAGTCTACAGCTCCCAGTGTGAGCGACGCAGAAGATGGGTGATTTCTGCATTTCCATCTGATGTACCGGGTTCATCTCACTAGGGAGTGCCAGACTGGGCGCAGGTCAGTGGGTGCATGCACCGTGCGCAAGCCGAAGCAGGGCGAGGCATTGCCTCACTTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCTGAGTCAAAGAAAGGGGTGACGGACGGCACCTGGAAAATCGGGTCACTCCCACCCAAATACTGCACTTTTCCCACGGGCTTAAAAAATGGCGCACCACAAGATTATATCCCGCACCTGGCTCGGAGGGTCCTACCCCCACGGAGTCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAGTGAGGCTGGGGGAGGGGCACCCGCCATTGCCCAGGCTTGATTAGGTAAACAAAGCATCCCGGAAGCTCCAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGACAGGGCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAATGTCTCTGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAATGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACCCCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGATCCTCTCTGTTAGAAGGAAAACTAACAAACAGAAAGGACATCCACACCAAAAACCCATCTGTACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGGAAAACTGGAAACTCTAAAACGCAGAGTGCCTCTCCTCCTCCAAAGGAACGCAGTTCCTCACCAGCAACGGAACAAAGCTGGATGGAGAATGACTTTGACGAGCTGAGAGAAGAAGGCTTCAGAAGATCAAATTACTCTGAGCTATGGGAGGACATTCAAACCAAAGGCAAAGAAGTCAAAAACTTTGAAACAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGGGAAGTGCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCAAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGGATCAGCAATGGAAGATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACATCTGATTGGTGTACCTGAAAGTGATGGGGAGAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCCATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGAAGGGAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAAGGGAAGCCCATCAGACTAACAGCGGATCTCTCAGCAGAAACTCTACTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCAATCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAAATAAAATCCTTTACAAACAAGCAAGTGTTGAGAGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTAAAGGAAGCACTAAACATGGAAAGGAACAACCGGTACCAGCCACTGCAAAATCATGCCAAAATGTAAAGACCATCAAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATAACCAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATGTAAATGGACTAAATGCTCCAATTAAAAGACACAGACTGGCAAATTGGATCAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACTTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAAGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAAGAGCTAACTATCCTAAATATATATGCACCCAATACAGGAGCACCAAGATTCATAAAGCAAGTCCTTAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCGGACCTAATAGACACCTACAGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATACTTGGAAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAACTGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAACCAACAAGAACAAAGACACAACATACCAGAATCTCTGGGACACATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCTAAAATTGACACCCTAATATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAGGGAAATAGAGACACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAAAAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTGGACACATACACTCTCTCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAATAGACCAATAACAGGAACTGAAATTGTGGCAATAATCAATAGCTTACCAACCAAAAAGAGTCCAGGATCACATGGATTCACAGCCGAATTCTACCAGAGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAACAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGGCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACAAAAAAAGAGAATTTGAGACCGATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAAACGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCATCCCTGGGAGGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCTTAATAAATTAGGTATCGATGGGACGTATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCACTCCTATTCAACATTGTGTTGGAAGTTCTGGCCAGGGCAATCAGCCAGGAGAAAGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAACCCCATCATCTCAGCCCCAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGAACTCTTATACACCAATAACAGACAAACAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGAGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATAAAAGAGGATACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAATTGGCCATACTGCCCAAGGTAATTGATAGATTCAATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCACATCGCCAAGTCAATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACGCTACCTGACTTCAAACTATACTACAAGGTTACAGTAACCAAAGCAGCATGGTACTGGTACCAAAACAGAGATACAGACCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTAATCTTTGACAAACCTGACAAAAACAAGCAATGGGGAAAGGATTCCCTATTGAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATTAATTCAAGATGGATGGATTAAAGACTTAAATGTTAGACCTAAAACCATAAAAACTCTAGAAGAAAACCTGGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGGCAACAAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACTAGAAAAAAACAAAAAACCCCATCAAAAAGTGGGCAAAGAATATGATCAGACACTTCTCAAAAGAAGACATTTATGCAGCCACAAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATATCATGTTACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTGACACTGTTGGTGGGACTGTAAACTAGTTCAAACATTGTAGAAGTCAGTGTGGTGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGGCACATGCACATGTATGTTTATAGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCTAAATGTCCAAATAGTCTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCACAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCCCAGCAAACTATCACAAGGACAAAAAACCAAATACTGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGACTGTTGTGGGGTGGGGGGAGTGGGGAGGGATAACATTAGGAGATATACCTAATGCTAAATGATGAGTTAATGGGTGCAGCACACCAACATGGCACATGTGTACATATGTAACAAACCTGCACATTGTGCACCTGTACCCTAAAACTTAAAGTATAATAATAATAAAATAATAATTTAAAAAAAGACCTAAAACCATAAAAACCCTAGAAGAAAATCAGGACATAGGCATGGGCAAAGACTTCATGCCTAAAACACCAAAAGCAACAGCAAAAAGAAGCCAAACTAGACAAATGGGATCTAATTAAACTAAAGAACTTCTGCACAGCAAAAGAAACTATCATCAGGGTGAACAGGCAACGTACAGAATGGGAGAAAATGTTTGCAATCTACCCATCTGACAAAGGTCTAATATCCAGAATCTACAAAGAACTTGAACAAATTTACAAGAAAAAAACAACCCCATCAAAAAGTAAACAAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAAACATGAAAAAAAGCTCATCACCACTGATTATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATTTCATGCCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGATGCTGGAGAGGATATGGAGAAATAGGAATACTTTTACACTGTTGGTGGGAGTGTAAATTAGTTCAACCATTGTGGAAGACAGTGTGGTGATTCCTCAAGGATCTAGAACCAGAAATACCATTTGACCCAGCAATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATTCTACTATAAAGACACATGCCCACGAATGTTTACTGTGGCACTGTTCACAATAGCAAAGAGTTGGAACCAACCCAAATGCCCATTAATGATAGACTTGATAAAGAAAATGTGGCATATATACACCATGGAATACCATGCAGTCATAAAAAGGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTAACACAAGAACAGAAAACCAAACACTGCATATTCTCACTCATAAGTGGGAGTTGAACAGTGAGAACATGGACATCGGGGGTGGGCGCATCACATACTGGGGCCTGTCAGGGAGTGGGGGACTAAGGAAGGGATAATATTAGGATAAATACCTAATGTAGTTGATGGGTTGATGGGTACAGCAAATCACCATGGCATGTGTGTATACCTATGTAACAAACCTGCACGTTCTGCATATGTATCCCAGAACTTAAAGTATAATAAAAAAAAGAAAAGAAAAATTAAATTATTAAAGAAGTCTAACAGTTTCATCTACAATTTGTAATTTAGATACCTATGTAATTCTTTCAAGGACAATTTTTTTAAATATTCATGGCTTTCTTTATGGGTTCCCTAACCACTTCTTTAAGTTTACCTGTGAGTAATCCAGTAGAGGGAATATACTGTGACATTTTTCCACACTCTGGATCACAGAATCCCACTTTTTACATAGCATTACATGAAGCTAGTCTGTCAGGAATTATTCTGGAAAATATTGCTTCATTTGGCTATCTCTGAGACTTCCTCCTCCTCTAAAATAGATTTCTAAGATTATCGTTTGTTACGTTCCAATATATTCACTGTGCCTTTTTTTTGAGGGTGGAGGAGTGAGGAGAGGATTCAAAATGACTCTGTATTCTTAAATTCAGTGAAATTCCTACTCTACCATATTTACTCTGACTTTAGAAGGCCCTCATCTCAACCCTGGTATTGCAAGTTCTTTTTATACTTCAAATCTTCTCTGGCTAACTGAACTGCCATGAATACCAAATTTCTATACATTGTCAGTATATCAATGATGAGCAAATTATGTCCTTCACATTTGTGAGTAATACAACATTCTATGTATTATAATATATTGTAATAATACATTGTATGTGCACTGTTTTACCGTTTGCAATTGATTTCCATACTCATTATTTCTTCACATGAATTCCTGTTTTCAAGTTATTTCTTTTTATTTTATTTCTTATTTTATTATTTATTTTATTTATTTATTTTATTTCTAAAATGTCCAACTTAAAATGTTCTTGTTGCCAAAGATCCCAGCCTAAAAAAAATTAAAACCCTTCTGTTTTTAGGAATTTCAGTGCAATCCATAAGTATTATGTAAATGTGCACATTCACATTTATTCTAGGACAGAGGAGATCGGCAGGAGTGAATTCAGTTCTTTGAAATGGCAAGATCCTTTTTACTTCAAACTTCAGCCAGCAAATATGAAGTTGTAAAGTACTACCATCTATTTGCCATCATTTGTTTTCATGTGGCAATGGGACCATTTTAAAGACCAAGCAAATTATGGGAGAGGGCTATTGGAAACATTTGTGTACAGTTATAAAACCTAAAGTAGTTCCAGCCTAGCTCATAAATATATCAATGCTTTTGAGACCAGTGAATATCAAGTACTTGAGCTTGATGGGTCAGGTATTCTATGCACTGTAGTCCACTGAATAAGACATCATTCACTGAGCAGCTGCTAAAGAGATTCATGGTGTTTTAGGCATTTTTGGTTCAGTACACAATAATACCAGAGTAGAAGATGGGAGTGAGAACAAAGAACAGACTCTCCCCCAACACACACACACATACACACACAACTATATAACCAAGAAAAAAAATTGTTCCCTTAGTAATATAGATTTTTAGACATAAATGGAGTAAGTCTATAGTTTGCAAAGCTAGAGACAGTTAAAATATAAACCATGGTTCCCATGACTACCACTAATAAAATTTTTTCTTATTGTTGCTACTGTATGAAAATTGTAATTGCTTTACTTCTTAGAAGATATCTCACTTTCTCATATAACACAGTAATATATTTTTAGGGACTTAACCTATTGATAAAAATTGAATATTCGATCTCTCAACTAGTTGCTTTCCTCACATGATTTTAGGAAGAAATTAATCAGGTTCCTAATTGCCGTAGCTGGCTCACATGATGGCTTTTTGCAAATCAGGAAACTATGTCCTTTCCAGGCCATCTCAAGCTAAACAATACACAGTTTAAAACACTGTGAATTGGGGTTACAGCTTTCCTGCAGGGTACATACCTTGGGGAGCAGACGATGGGCTGAAATTTAGCCCCCACTCCCTCAATCATACATCTTATATAGTAAACAATCTGTAAAACTATACATAGTAACACTGAGTCAAATTTACTAAATTAAGCAACTGTGCATCAGAAGAACTTGCATAACTTTTTGCTGGCATCCAATACCCTGAGCAAAGAGGCCTTCAGCTAAATGTAACTTACAGAGATAATATAGAGGTCCTTCTTTCTATAGCACCACTCTGAAGTTATTTTACAAACTTCTAATCTGTGGGCAAAAAAGCTAAGAGTAAAGTCATCCTGCTGGAAGGTTAACCTTGCAACATAGAAGGGGCAGTAGCAGAAGTCTTTATTTGACATGAGCTAAGCAAAGTGGCATATAGTAAAATGATATTTTTCTAGTTAAACACCTATTGTGTATATACCACTCTGCCTAAAGGGTAAAGGGTAGAAGTAAAATATAGTTCCTGCTCTCACAAATTTATAATCTTGACAGGGGGAATGAACAAGAAAGTAGAGAAGGGGAAGAGGAAAAGAGAATAAAACTGCATTGGCCTCTTAACTGTCTCACTTATTTCCTCAGGCAATAAGCCTTATGTAAATGTACGTGATGAATACCATGAGATAACATACAACCCAGTTATTTTGGGTGCATAGTAAAGAATCTCATATTTGTTGCTGGAATTAGTGATGATTCCTATAGTAGTTTTGAAGGAACAGAATTACTCAAAGGATCTGTAAGGAGCTATAACATAAGCTATTACCCTTGATTTTTAATGTAAACAAACTCTCTGGCCCAAATCTGTATTTAAATGAAAGTGGCAGAATTTGACAATCTCATAGACTCAGTATGATTTTATGATGCTTTTGTGACTATGTTACATTGAAAGCTTGGTATCTTTTAAAGCTGCCTCATTGGAAAAGGGCACAGAAGGTGATTTCAAAGTTACTTTAATTTAATGACCACTCTTATTCAATTGTTTTCACAG	A	RBMS3	c.1307_1308insGTAA	NM_001003793.2	NP_001003793.1:p.(Pro437Ter)	NC_000003.11:g.30032705_30045346del	(Likely) benign	1 lab	584c83ed4b
2:179433603 TTN CTT>C	2	179433603	179433606	CTT	C	TTN	c.77254_77255del	NM_001267550.2	NP_001254479.2:p.(Lys25752ValfsTer18)	NC_000002.11:g.179433605_179433606del	(Likely) pathogenic	1 lab	584da65047
20:49510767 ADNP G>A	20	49510767	49510767	G	A	ADNP	c.484C>T	NM_001282531.2	NP_001269460.1:p.(Gln162Ter)	NC_000020.10:g.49510767G>A	(Likely) pathogenic	1 lab	58514f6c9b
7:82545765 PCLO C>T	7	82545765	82545765	C	T	PCLO	c.11537G>A	NM_033026.6	NP_149015.2:p.(Arg3846Gln)	NC_000007.13:g.82545765C>T	VUS	1 lab	f23202a8c5
20:10627597 JAG1 G>A	20	10627597	10627597	G	A	JAG1	c.1875C>T	NM_000214.3	NP_000205.1:p.(Tyr625=)	NC_000020.10:g.10627597G>A	(Likely) benign	1 lab	5852d64ba3
6:152565772 SYNE1 T>G	6	152565772	152565772	T	G	SYNE1	c.19592A>C	NM_182961.3	NP_892006.3:p.(Asp6531Ala)	NC_000006.11:g.152565772T>G	VUS	1 lab	5852e2ad6e
7:72985529 TBL2 C>T	7	72985529	72985529	C	T	TBL2	c.769G>A	NM_001362660.2	NP_001349589.1:p.(Asp257Asn)	NC_000007.13:g.72985529C>T	VUS	1 lab	f237404886
4:151504839 MAB21L2 G>A	4	151504839	151504839	G	A	MAB21L2	c.658G>A	NM_006439.5	NP_006430.1:p.(Gly220Ser)	NC_000004.11:g.151504839G>A	VUS	1 lab	f23753b5e1
4:1369257 UVSSA G>A	4	1369257	1369257	G	A	UVSSA	c.1394G>A	NM_020894.3	NP_065945.2:p.(Arg465Gln)	NC_000004.11:g.1369257G>A	(Likely) benign	1 lab	585578a71b
10:91193081 SLC16A12 G>A	10	91193081	91193081	G	A	SLC16A12	c.1291C>T	NM_213606.3	NP_998771.3:p.(Arg431Trp)	NC_000010.10:g.91193081G>A	(Likely) benign	1 lab	5855798a09
19:2251930 AMH G>T	19	2251930	2251930	G	T	AMH	c.1657G>T	NM_000479.4	NP_000470.2:p.(Val553Leu)	NC_000019.9:g.2251930G>T	VUS	1 lab	5857538dde
1:228353721 IBA57 C>T	1	228353721	228353721	C	T	IBA57	c.204C>T	NM_001010867.3	NP_001010867.1:p.(Pro68=)	NC_000001.10:g.228353721C>T	(Likely) benign	1 lab	585977cdd0
1:172526446 SUCO C>T	1	172526446	172526446	C	T	SUCO	c.944C>T	NM_016227.3	NP_057311.3:p.(Pro315Leu)	NC_000001.10:g.172526446C>T	VUS	1 lab	585be64e0e
14:23859506 MYH6 C>T	14	23859506	23859506	C	T	MYH6	c.3492G>A	NM_002471.3	NP_002462.2:p.(Glu1164=)	NC_000014.8:g.23859506C>T	(Likely) benign	1 lab	585c2eaa24
2:173362715 ITGA6 G>A	2	173362715	173362715	G	A	ITGA6	c.3001G>A	NM_000210.4	NP_000201.2:p.(Val1001Met)	NC_000002.11:g.173362715G>A	VUS	1 lab	f23bbde269
15:51233731 AP4E1 C>A	15	51233731	51233731	C	A	AP4E1	c.1036C>A	NM_007347.4	NP_031373.2:p.(Leu346Met)	NC_000015.9:g.51233731C>A	VUS	1 lab	585d84b349
X:54209173 FAM120C C>T	X	54209173	54209173	C	T	FAM120C	c.459G>A	NM_017848.5	NP_060318.4:p.(Leu153=)	NC_000023.10:g.54209173C>T	(Likely) benign	1 lab	585d8bcf0d
X:56590868 UBQLN2 A>T	X	56590868	56590868	A	T	UBQLN2	c.562A>T	NM_013444.3	NP_038472.2:p.(Asn188Tyr)	NC_000023.10:g.56590868A>T	VUS	1 lab	58688c1457
11:10650301 IRAG1 G>T	11	10650301	10650301	G	T	IRAG1	c.649C>A	NM_130385.3	NP_569056.4:p.(Pro217Thr)	NC_000011.9:g.10650301G>T	(Likely) benign	1 lab	586044c306
15:34530506 SLC12A6 T>C	15	34530506	34530506	T	C	SLC12A6	c.2702A>G	NM_001042496.1	NP_001035961.1:p.(Asn901Ser)	NC_000015.9:g.34530506T>C	(Likely) benign	1 lab	58620093fa
1:173930379 RC3H1 G>T	1	173930379	173930379	G	T	RC3H1	c.2206C>A	NM_172071.4	NP_742068.1:p.(Pro736Thr)	NC_000001.10:g.173930379G>T	VUS	1 lab	f23d935706
17:10543457 MYH3 A>T	17	10543457	10543457	A	T	MYH3	c.2538T>A	NM_002470.3	NP_002461.2:p.(Thr846=)	NC_000017.10:g.10543457A>T	(Likely) benign	1 lab	58626cce11
8:94768081 TMEM67 G>A	8	94768081	94768081	G	A	TMEM67	c.299G>A	NM_153704.5	NP_714915.3:p.(Cys100Tyr)	NC_000008.10:g.94768081G>A	VUS	1 lab	5862ecc4ee
7:142749594 OR6V1 C>A	7	142749594	142749594	C	A	OR6V1	c.157C>A	NM_001001667.1	NP_001001667.1:p.(Leu53Ile)	NC_000007.13:g.142749594C>A	VUS	1 lab	5862fabc8b
X:109561069 AMMECR1 G>A	X	109561069	109561069	G	A	AMMECR1	c.231C>T	NM_015365.2	NP_056180.1:p.(Gly77=)	NC_000023.10:g.109561069G>A	(Likely) benign	1 lab	586334f60d
16:15818090 NDE1 G>A	16	15818090	15818090	G	A	NDE1	c.990G>A	NM_001143979.1	NP_001137451.1:p.(Arg330=)	NC_000016.9:g.15818090G>A	(Likely) benign	1 lab	58658252ac
18:44137390 LOXHD1 G>A	18	44137390	44137390	G	A	LOXHD1	c.3279C>T	NM_144612.6	NP_653213.6:p.(His1093=)	NC_000018.9:g.44137390G>A	(Likely) benign	1 lab	5865b4da47
9:2717834 KCNV2 C>G	9	2717834	2717834	C	G	KCNV2	c.95C>G	NM_133497.3	NP_598004.1:p.(Ser32Cys)	NC_000009.11:g.2717834C>G	VUS	1 lab	5867f46400
15:63950904 HERC1 G>A	15	63950904	63950904	G	A	HERC1	c.9438C>T	NM_003922.3	NP_003913.3:p.(Ser3146=)	NC_000015.9:g.63950904G>A	(Likely) benign	1 lab	58681b32c0
6:43013767 CUL7 C>T	6	43013767	43013767	C	T	CUL7	c.2975G>A	NM_001168370.1	NP_001161842.1:p.(Cys992Tyr)	NC_000006.11:g.43013767C>T	(Likely) benign	1 lab	5869bbff26
19:46032399 OPA3 C>T	19	46032399	46032399	C	T	OPA3	c.458G>A	NM_001017989.3	NP_001017989.2:p.(Arg153His)	NC_000019.9:g.46032399C>T	VUS	1 lab	f23dd2799d
5:13865870 DNAH5 C>T	5	13865870	13865870	C	T	DNAH5	c.4262G>A	NM_001369.2	NP_001360.1:p.(Ser1421Asn)	NC_000005.9:g.13865870C>T	(Likely) benign	1 lab	586a90ca19
12:109541387 UNG G>T	12	109541387	109541387	G	T	UNG	c.745G>T	NM_003362.3	NP_003353.1:p.(Ala249Ser)	NC_000012.11:g.109541387G>T	VUS	1 lab	586ac3f13b
3:178916854 PIK3CA G>A	3	178916854	178916854	G	A	PIK3CA	c.241G>A	NM_006218.2	NP_006209.2:p.(Glu81Lys)	NC_000003.11:g.178916854G>A	(Likely) pathogenic	1 lab	586cb93fc0
10:93619394 TNKS2 C>T	10	93619394	93619394	C	T	TNKS2	c.3270C>T	NM_025235.4	NP_079511.1:p.(Tyr1090=)	NC_000010.10:g.93619394C>T	(Likely) benign	1 lab	586d44254a
2:149838074 KIF5C C>T	2	149838074	149838074	C	T	KIF5C	c.1568C>T	NM_004522.3	NP_004513.1:p.(Thr523Met)	NC_000002.11:g.149838074C>T	(Likely) benign	1 lab	586ec52982
7:50367255 IKZF1 G>T	7	50367255	50367255	G	T	IKZF1	c.62G>T	NM_006060.6	NP_006051.1:p.(Ser21Ile)	NC_000007.13:g.50367255G>T	VUS	1 lab	586edb69d2
7:155596107 SHH C>T	7	155596107	155596107	C	T	SHH	c.876G>A	NM_000193.3	NP_000184.1:p.(Gly292=)	NC_000007.13:g.155596107C>T	(Likely) benign	1 lab	586ff16048
8:100443832 VPS13B A>G	8	100443832	100443832	A	G	VPS13B	c.3150A>G	NM_017890.4	NP_060360.3:p.(Glu1050=)	NC_000008.10:g.100443832A>G	(Likely) benign	1 lab	58707a8ff7
11:35016716 PDHX C>T	11	35016716	35016716	C	T	PDHX	c.1503C>T	NM_003477.2	NP_003468.2:p.(Ala501=)	NC_000011.9:g.35016716C>T	(Likely) benign	1 lab	5870acc08e
19:42383337 CD79A C>T	19	42383337	42383337	C	T	CD79A	c.357C>T	NM_001783.3	NP_001774.1:p.(Cys119=)	NC_000019.9:g.42383337C>T	(Likely) benign	1 lab	5871263737
13:32911863 BRCA2 A>G	13	32911863	32911863	A	G	BRCA2	c.3371A>G	NM_000059.3	NP_000050.2:p.(Gln1124Arg)	NC_000013.10:g.32911863A>G	VUS	1 lab	5871fd6397
14:69791455 GALNT16 A>G	14	69791455	69791455	A	G	GALNT16	c.382A>G	NM_001168368.2	NP_001161840.1:p.(Ile128Val)	NC_000014.8:g.69791455A>G	VUS	1 lab	58723c26a4
11:57379324 SERPING1 G>A	11	57379324	57379324	G	A	SERPING1	c.1164G>A	NM_000062.2	NP_000053.2:p.(Met388Ile)	NC_000011.9:g.57379324G>A	(Likely) benign	1 lab	5872587c3d
16:2104462 TSC2 G>C	16	2104462	2104462	G	C	TSC2	c.481+21G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2104462G>C	(Likely) benign	1 lab	587292aabf
10:121586939 INPP5F G>T	10	121586939	121586939	G	T	INPP5F	c.3046G>T	NM_014937.3	NP_055752.1:p.(Val1016Phe)	NC_000010.10:g.121586939G>T	VUS	1 lab	5872a2f757
19:4229587 EBI3 A>G	19	4229587	4229587	A	G	EBI3	c.40A>G	NM_005755.3	NP_005746.2:p.(Ser14Gly)	NC_000019.9:g.4229587A>G	(Likely) benign	1 lab	58736a2479
19:55333234 KIR3DL1 C>G	19	55333234	55333234	C	G	KIR3DL1				NC_000019.9:g.55333234C>G	(Likely) benign	1 lab	5873b739b7
12:475273 KDM5A G>A	12	475273	475273	G	A	KDM5A	c.367-3C>T	NM_001042603.2	NP_001036068.1:p.?	NC_000012.11:g.475273G>A	(Likely) benign	1 lab	5873db1bf0
2:220011421 NHEJ1 A>G	2	220011421	220011421	A	G	NHEJ1	c.569T>C	NM_024782.2	NP_079058.1:p.(Leu190Ser)	NC_000002.11:g.220011421A>G	(Likely) benign	1 lab	5874b9cde1
17:29562650 NF1 GT>G	17	29562650	29562652	GT	G	NF1	c.3732del	NM_001042492.3	NP_001035957.1:p.(Thr1245LeufsTer21)	NC_000017.10:g.29562652del	(Likely) pathogenic	1 lab	58755acb22
6:121768888 GJA1 C>T	6	121768888	121768888	C	T	GJA1	c.895C>T	NM_000165.5	NP_000156.1:p.(Arg299Cys)	NC_000006.11:g.121768888C>T	VUS	1 lab	f243ebd89a
5:1093689 SLC12A7 C>A	5	1093689	1093689	C	A	SLC12A7	c.301G>T	NM_006598.3	NP_006589.2:p.(Glu101Ter)	NC_000005.9:g.1093689C>A	VUS	1 lab	587726c977
2:135870800 RAB3GAP1 C>T	2	135870800	135870800	C	T	RAB3GAP1	c.442C>T	NM_001172435.1	NP_001165906.1:p.(Leu148Phe)	NC_000002.11:g.135870800C>T	VUS	1 lab	5877e0c10e
14:91806262 CCDC88C C>T	14	91806262	91806262	C	T	CCDC88C	c.590G>A	NM_001080414.3	NP_001073883.2:p.(Arg197Gln)	NC_000014.8:g.91806262C>T	(Likely) benign	1 lab	5877f313ac
18:56191053 ALPK2 G>A	18	56191053	56191053	G	A	ALPK2	c.5650C>T	NM_052947.4	NP_443179.3:p.(Arg1884Cys)	NC_000018.9:g.56191053G>A	(Likely) benign	1 lab	58787dcd67
10:124348535 DMBT1 G>A	10	124348535	124348535	G	A	DMBT1	c.1859G>A	NM_007329.2	NP_015568.2:p.(Arg620Gln)	NC_000010.10:g.124348535G>A	(Likely) benign	1 lab	5878ae1feb
11:76918384 MYO7A C>T	11	76918384	76918384	C	T	MYO7A	c.5793C>T	NM_000260.3	NP_000251.3:p.(Ile1931=)	NC_000011.9:g.76918384C>T	(Likely) benign	1 lab	587abfbef2
18:67864952 RTTN T>A	18	67864952	67864952	T	A	RTTN	c.601A>T	NM_173630.3	NP_775901.3:p.(Thr201Ser)	NC_000018.9:g.67864952T>A	VUS	1 lab	587d824659
7:100647655 MUC12 C>T	7	100647655	100647655	C	T	MUC12	c.13811C>T	NM_001164462.1	NP_001157934.1:p.(Ala4604Val)	NC_000007.13:g.100647655C>T	(Likely) benign	1 lab	587d9b3aa1
12:48380899 COL2A1 G>C	12	48380899	48380899	G	C	COL2A1	c.1327C>G	NM_001844.4	NP_001835.3:p.(Gln443Glu)	NC_000012.11:g.48380899G>C	VUS	1 lab	587dc7dc39
X:132548836 GPC4 T>C	X	132548836	132548836	T	C	GPC4	c.158A>G	NM_001448.2	NP_001439.2:p.(Asn53Ser)	NC_000023.10:g.132548836T>C	(Likely) benign	1 lab	587dd34a40
8:118819565 EXT1 AC>A	8	118819565	118819569	AC	A	EXT1	c.1773del	NM_000127.3	NP_000118.2:p.(Tyr592ThrfsTer29)	NC_000008.10:g.118819569del	(Likely) pathogenic	1 lab	587eb30612
16:1420273 UNKL C>T	16	1420273	1420273	C	T	UNKL	c.1443G>A	NM_001193388.3	NP_001180317.2:p.(Ala481=)	NC_000016.9:g.1420273C>T	(Likely) benign	1 lab	587ef2400a
6:159457664 TAGAP G>A	6	159457664	159457664	G	A	TAGAP	c.1391C>T	NM_054114.4	NP_473455.2:p.(Ser464Leu)	NC_000006.11:g.159457664G>A	VUS	1 lab	5880b99859
6:159653801 FNDC1 A>G	6	159653801	159653801	A	G	FNDC1	c.2257A>G	NM_032532.3	NP_115921.2:p.(Thr753Ala)	NC_000006.11:g.159653801A>G	(Likely) benign	1 lab	58812e03bf
16:71054161 HYDIN G>A	16	71054161	71054161	G	A	HYDIN	c.3246C>T	NM_001270974.2	NP_001257903.1:p.(Thr1082=)	NC_000016.9:g.71054161G>A	(Likely) benign	1 lab	58834246e3
X:128696647 OCRL G>T	X	128696647	128696647	G	T	OCRL	c.1131G>T	NM_001318784.1	NP_001305713.1:p.(Leu377=)	NC_000023.10:g.128696647G>T	(Likely) benign	1 lab	5884900ac8
18:72344002 ZNF407 G>A	18	72344002	72344002	G	A	ZNF407	c.1027G>A	NM_017757.2	NP_060227.2:p.(Glu343Lys)	NC_000018.9:g.72344002G>A	(Likely) benign	1 lab	5885c7f647
4:56885519 CEP135 G>T	4	56885519	56885519	G	T	CEP135	c.3013G>T	NM_025009.4	NP_079285.2:p.(Val1005Phe)	NC_000004.11:g.56885519G>T	VUS	1 lab	58862bd4fb
8:144994585 PLEC T>C	8	144994585	144994585	T	C	PLEC	c.9815A>G	NM_201380.3	NP_958782.1:p.(Asp3272Gly)	NC_000008.10:g.144994585T>C	VUS	1 lab	58863c546b
12:4766944 NDUFA9 C>T	12	4766944	4766944	C	T	NDUFA9	c.349C>T	NM_005002.4	NP_004993.1:p.(Arg117Ter)	NC_000012.11:g.4766944C>T	(Likely) pathogenic	1 lab	588641dcb9
5:153029897 GRIA1 C>T	5	153029897	153029897	C	T	GRIA1	c.495C>T	NM_001364166.1	NP_001351095.1:p.(Ser165=)	NC_000005.9:g.153029897C>T	(Likely) benign	1 lab	5886d51151
20:19955748 RIN2 G>T	20	19955748	19955748	G	T	RIN2	c.1226G>T	NM_001242581.1	NP_001229510.1:p.(Arg409Leu)	NC_000020.10:g.19955748G>T	(Likely) benign	1 lab	58872913a1
12:133349803 GOLGA3 G>A	12	133349803	133349803	G	A	GOLGA3	c.4385C>T	NM_005895.3	NP_005886.2:p.(Pro1462Leu)	NC_000012.11:g.133349803G>A	(Likely) benign	1 lab	5888e04ec3
5:1814783 NDUFS6 T>C	5	1814783	1814783	T	C	NDUFS6	c.309+208T>C	NM_004553.6	NP_004544.1:p.?	NC_000005.9:g.1814783T>C	(Likely) benign	1 lab	f24514be63
16:2159276 PKD1 G>A	16	2159276	2159276	G	A	PKD1	c.5892C>T	NM_001009944.2	NP_001009944.2:p.(Arg1964=)	NC_000016.9:g.2159276G>A	(Likely) benign	1 lab	5890cce846
17:29665767 NF1 G>C	17	29665767	29665767	G	C	NF1	c.6802G>C	NM_000267.3	NP_000258.1:p.(Val2268Leu)	NC_000017.10:g.29665767G>C	(Likely) benign	1 lab	5891ff0943
17:3638140 ITGAE T>TG	17	3638140	3638144	T	TG	ITGAE	c.2625dup	NM_002208.5	NP_002199.3:p.(Arg876GlnfsTer19)	NC_000017.10:g.3638144dup	VUS	1 lab	5893e63b2e
6:64791889 EYS C>A	6	64791889	64791889	C	A	EYS	c.6431G>T	NM_001292009.1	NP_001278938.1:p.(Gly2144Val)	NC_000006.11:g.64791889C>A	(Likely) benign	1 lab	58948b0f32
16:22545325 NPIPB5 A>T	16	22545325	22545325	A	T	NPIPB5	c.1021A>T	NM_001135865.1	NP_001129337.1:p.(Thr341Ser)	NC_000016.9:g.22545325A>T	(Likely) benign	1 lab	5894a79a13
16:2100485 TSC2 G>A	16	2100485	2100485	G	A	TSC2	c.223G>A	NM_001114382.2	NP_001107854.1:p.(Glu75Lys)	NC_000016.9:g.2100485G>A	VUS	1 lab	5894f0e8c0
3:33161946 CRTAP C>T	3	33161946	33161946	C	T	CRTAP	c.582C>T	NM_006371.4	NP_006362.1:p.(Ala194=)	NC_000003.11:g.33161946C>T	(Likely) benign	1 lab	589555a2a1
1:898873 KLHL17 C>T	1	898873	898873	C	T	KLHL17	c.1344C>T	NM_198317.2	NP_938073.1:p.(Ser448=)	NC_000001.10:g.898873C>T	(Likely) benign	1 lab	5895eaa19e
X:70612738 TAF1 C>T	X	70612738	70612738	C	T	TAF1	c.3005C>T	NM_001286074.1	NP_001273003.1:p.(Pro1002Leu)	NC_000023.10:g.70612738C>T	VUS	1 lab	5896512bc0
12:1906656 CACNA2D4 T>C	12	1906656	1906656	T	C	CACNA2D4	c.3041A>G	NM_172364.4	NP_758952.4:p.(Glu1014Gly)	NC_000012.11:g.1906656T>C	VUS	1 lab	5896a3982c
1:103468294 COL11A1 G>T	1	103468294	103468294	G	T	COL11A1	c.2079+9C>A	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103468294G>T	(Likely) benign	1 lab	5897ce18a0
17:44051786 MAPT G>A	17	44051786	44051786	G	A	MAPT	c.256G>A	NM_001123066.3	NP_001116538.2:p.(Gly86Ser)	NC_000017.10:g.44051786G>A	(Likely) benign	1 lab	589a680d5a
17:29587459 NF1 C>T	17	29587459	29587459	C	T	NF1	c.4503C>T	NM_001042492.2	NP_001035957.1:p.(Asp1501=)	NC_000017.10:g.29587459C>T	(Likely) benign	1 lab	589a73d33d
19:36594404 WDR62 G>A	19	36594404	36594404	G	A	WDR62	c.3674G>A	NM_001083961.1	NP_001077430.1:p.(Arg1225His)	NC_000019.9:g.36594404G>A	(Likely) benign	1 lab	589aa401ab
3:49569074 DAG1 T>C	3	49569074	49569074	T	C	DAG1	c.1130T>C	NM_001165928.3	NP_001159400.2:p.(Ile377Thr)	NC_000003.11:g.49569074T>C	VUS	1 lab	589b0866bf
8:65711055 CYP7B1 G>A	8	65711055	65711055	G	A	CYP7B1	c.90C>T	NM_004820.4	NP_004811.1:p.(Leu30=)	NC_000008.10:g.65711055G>A	(Likely) benign	1 lab	589b677bfd
5:131714166 SLC22A5 T>C	5	131714166	131714166	T	C	SLC22A5	c.562T>C	NM_001308122.1	NP_001295051.1:p.(Ser188Pro)	NC_000005.9:g.131714166T>C	VUS	1 lab	589bf224d6
8:6302308 MCPH1 G>T	8	6302308	6302308	G	T	MCPH1	c.1065G>T	NM_001322042.1	NP_001308971.1:p.(Lys355Asn)	NC_000008.10:g.6302308G>T	(Likely) benign	1 lab	589d792af8
2:1652712 PXDN G>A	2	1652712	1652712	G	A	PXDN	c.2840C>T	NM_012293.2	NP_036425.1:p.(Pro947Leu)	NC_000002.11:g.1652712G>A	VUS	1 lab	58a1a4cbb5
3:53217145 PRKCD G>A	3	53217145	53217145	G	A	PRKCD	c.580G>A	NM_001354680.1	NP_001341609.1:p.(Ala194Thr)	NC_000003.11:g.53217145G>A	VUS	1 lab	58a1d29f6c
9:712214 KANK1 G>A	9	712214	712214	G	A	KANK1	c.1448G>A	NM_001256877.2	NP_001243806.1:p.(Arg483Gln)	NC_000009.11:g.712214G>A	(Likely) benign	1 lab	58a3715072
7:91842670 KRIT1 G>A	7	91842670	91842670	G	A	KRIT1	c.1864C>T	NM_004912.4	NP_004903.2:p.(Gln622Ter)	NC_000007.13:g.91842670G>A	(Likely) pathogenic	1 lab	58a39318e9
7:143088576 EPHA1 A>G	7	143088576	143088576	A	G	EPHA1	c.2905T>C	NM_005232.5	NP_005223.4:p.(Cys969Arg)	NC_000007.13:g.143088576A>G	VUS	1 lab	58a42ac45a
4:88535845 DSPP CAGCAGT>C	4	88535845	88535857	CAGCAGT	C	DSPP	c.2038_2043del	NM_014208.3	NP_055023.2:p.(Ser680_Ser681del)	NC_000004.11:g.88535852_88535857del	(Likely) benign	1 lab	58a61e0eca
15:75980983 CSPG4 T>G	15	75980983	75980983	T	G	CSPG4	c.2423A>C	NM_001897.5	NP_001888.2:p.(Glu808Ala)	NC_000015.9:g.75980983T>G	VUS	1 lab	58a69f341d
1:16376379 CLCNKB C>CAATA	1	16376379	16376383	C	CAATA	CLCNKB	c.937_940dup	NM_000085.4	NP_000076.2:p.(Arg314LysfsTer2)	NC_000001.10:g.16376380_16376383dup	(Likely) pathogenic	1 lab	58a7037784
7:42079840 GLI3 T>C	7	42079840	42079840	T	C	GLI3	c.827-2A>G	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42079840T>C	(Likely) pathogenic	1 lab	58a72248dc
X:19022928 ADGRG2 C>T	X	19022928	19022928	C	T	ADGRG2	c.1909G>A	NM_001079858.2	NP_001073327.1:p.(Gly637Arg)	NC_000023.10:g.19022928C>T	VUS	1 lab	58a94fe749
10:104389903 SUFU G>A	10	104389903	104389903	G	A	SUFU	c.1446G>A	NM_016169.3	NP_057253.2:p.(Pro482=)	NC_000010.10:g.104389903G>A	(Likely) benign	1 lab	58a9c6af74
2:179455798 TTN C>T	2	179455798	179455798	C	T	TTN	c.60654G>A	NM_001267550.1	NP_001254479.1:p.(Thr20218=)	NC_000002.11:g.179455798C>T	(Likely) benign	1 lab	58aa683dd1
7:1536852 INTS1 G>A	7	1536852	1536852	G	A	INTS1	c.1524C>T	NM_001080453.3	NP_001073922.2:p.(His508=)	NC_000007.13:g.1536852G>A	(Likely) benign	1 lab	58ab3c81e3
15:62174893 VPS13C G>C	15	62174893	62174893	G	C	VPS13C	c.9526C>G	NM_001018088.2	NP_001018098.1:p.(Arg3176Gly)	NC_000015.9:g.62174893G>C	(Likely) benign	1 lab	58ac0b4c17
X:75003481 MAGEE2 G>A	X	75003481	75003481	G	A	MAGEE2	c.1406C>T	NM_138703.4	NP_619648.1:p.(Pro469Leu)	NC_000023.10:g.75003481G>A	VUS	1 lab	58ac654ee1
11:76831837 CAPN5 G>A	11	76831837	76831837	G	A	CAPN5	c.1369G>A	NM_004055.4	NP_004046.2:p.(Val457Ile)	NC_000011.9:g.76831837G>A	VUS	1 lab	58ad5d8a26
16:71100838 HYDIN T>C	16	71100838	71100838	T	C	HYDIN	c.2075+355A>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71100838T>C	(Likely) benign	1 lab	f247718095
14:103593393 MISSING C>A	14	103593393	103593393	C	A	MISSING				NC_000014.8:g.103593393C>A	(Likely) benign	1 lab	58ade371c9
14:75513770 MLH3 A>C	14	75513770	75513770	A	C	MLH3	c.2589T>G	NM_001040108.1	NP_001035197.1:p.(Pro863=)	NC_000014.8:g.75513770A>C	(Likely) benign	1 lab	58ae508f1b
X:70832812 GCNA C>T	X	70832812	70832812	C	T	GCNA	c.2056C>T	NM_052957.4	NP_443189.1:p.(Arg686Cys)	NC_000023.10:g.70832812C>T	VUS	1 lab	58af04b5bd
20:25059564 VSX1 C>T	20	25059564	25059564	C	T	VSX1	c.528G>A	NM_001256272.1	NP_001243201.1:p.(Leu176=)	NC_000020.10:g.25059564C>T	(Likely) benign	1 lab	58b0122e2e
X:134993754 SAGE1 C>T	X	134993754	134993754	C	T	SAGE1	c.2163C>T	NM_018666.2	NP_061136.2:p.(His721=)	NC_000023.10:g.134993754C>T	(Likely) benign	1 lab	58b04b135b
2:179479320 TTN A>C	2	179479320	179479320	A	C	TTN	c.48921T>G	NM_001267550.1	NP_001254479.1:p.(Ile16307Met)	NC_000002.11:g.179479320A>C	VUS	1 lab	58b13343c8
22:24167594 SMARCB1 C>T	22	24167594	24167594	C	T	SMARCB1	c.978C>T	NM_003073.5	NP_003064.2:p.(Tyr326=)	NC_000022.10:g.24167594C>T	(Likely) benign	1 lab	f2479986bd
8:30948034 WRN C>T	8	30948034	30948034	C	T	WRN	c.1706C>T	NM_000553.4	NP_000544.2:p.(Ala569Val)	NC_000008.10:g.30948034C>T	VUS	1 lab	58b17f6afb
17:41243050 BRCA1 C>T	17	41243050	41243050	C	T	BRCA1	c.4097-1G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243050C>T	(Likely) pathogenic	1 lab	58b1cfd052
11:67289440 CABP2 C>T	11	67289440	67289440	C	T	CABP2	c.245G>A	NM_001318496.1	NP_001305425.1:p.(Arg82Gln)	NC_000011.9:g.67289440C>T	VUS	1 lab	58b3a9c4c4
X:53635852 HUWE1 T>C	X	53635852	53635852	T	C	HUWE1	c.2280A>G	NM_031407.6	NP_113584.3:p.(Glu760=)	NC_000023.10:g.53635852T>C	(Likely) benign	1 lab	58b7030169
2:179439252 TTN A>C	2	179439252	179439252	A	C	TTN	c.71607T>G	NM_001267550.1	NP_001254479.1:p.(Asn23869Lys)	NC_000002.11:g.179439252A>C	VUS	1 lab	58b7583ede
15:25605676 UBE3A T>G	15	25605676	25605676	T	G	UBE3A	c.1618-2A>C	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25605676T>G	VUS	1 lab	58b784c0f2
2:170094737 LRP2 T>C	2	170094737	170094737	T	C	LRP2	c.4370A>G	NM_004525.3	NP_004516.2:p.(Asn1457Ser)	NC_000002.11:g.170094737T>C	(Likely) benign	1 lab	58b9cb85c7
2:179406130 TTN C>T	2	179406130	179406130	C	T	TTN	c.97674G>A	NM_001267550.1	NP_001254479.1:p.(Arg32558=)	NC_000002.11:g.179406130C>T	VUS	1 lab	58b9cf8dd4
2:219204497 PNKD G>A	2	219204497	219204497	G	A	PNKD	c.237-9G>A	NM_015488.4	NP_056303.3:p.?	NC_000002.11:g.219204497G>A	(Likely) benign	1 lab	58bdb094af
X:67733204 YIPF6 G>A	X	67733204	67733204	G	A	YIPF6	c.93G>A	NM_001195214.1	NP_001182143.1:p.(Met31Ile)	NC_000023.10:g.67733204G>A	(Likely) benign	1 lab	58bdd730e5
17:29490226 NF1 T>G	17	29490226	29490226	T	G	NF1	c.311T>G	NM_000267.3	NP_000258.1:p.(Leu104Ter)	NC_000017.10:g.29490226T>G	(Likely) pathogenic	1 lab	58be2c5851
15:75982164 CSPG4 T>C	15	75982164	75982164	T	C	CSPG4	c.1242A>G	NM_001897.5	NP_001888.2:p.(Pro414=)	NC_000015.9:g.75982164T>C	(Likely) benign	1 lab	58bf7cf496
6:51890278 PKHD1 G>A	6	51890278	51890278	G	A	PKHD1	c.4330C>T	NM_138694.3	NP_619639.3:p.(Gln1444Ter)	NC_000006.11:g.51890278G>A	(Likely) pathogenic	1 lab	58bfdd7452
2:163130443 IFIH1 T>A	2	163130443	163130443	T	A	IFIH1	c.2316A>T	NM_022168.4	NP_071451.2:p.(Lys772Asn)	NC_000002.11:g.163130443T>A	VUS	1 lab	58c01c1245
5:176637782 NSD1 CAAAG>C	5	176637782	176637789	CAAAG	C	NSD1	c.2386_2389del	NM_022455.5	NP_071900.2:p.(Glu796IlefsTer10)	NC_000005.9:g.176637786_176637789del	(Likely) pathogenic	1 lab	58c0c5edae
3:47453432 PTPN23 C>T	3	47453432	47453432	C	T	PTPN23	c.4048C>T	NM_015466.3	NP_056281.1:p.(Leu1350=)	NC_000003.11:g.47453432C>T	(Likely) benign	1 lab	58c1046815
1:156144717 SEMA4A C>T	1	156144717	156144717	C	T	SEMA4A	c.1420C>T	NM_022367.4	NP_071762.2:p.(Leu474=)	NC_000001.10:g.156144717C>T	(Likely) benign	1 lab	58c2b2f9a8
1:210329107 SYT14 TG>T	1	210329107	210329108	TG	T	SYT14	c.1207del	NM_001146262.4	NP_001139734.1:p.(Glu403LysfsTer34)	NC_000001.10:g.210329108del	VUS	1 lab	58c2d4dbda
1:186278960 PRG4 GGACT>G	1	186278960	186278968	GGACT	G	PRG4	c.3462_3465del	NM_005807.6	NP_005798.3:p.(Thr1155LeufsTer7)	NC_000001.10:g.186278965_186278968del	(Likely) pathogenic	1 lab	58c974d235
11:18421013 LDHA C>T	11	18421013	18421013	C	T	LDHA	c.249C>T	NM_001165414.1	NP_001158886.1:p.(Ile83=)	NC_000011.9:g.18421013C>T	(Likely) benign	1 lab	58ca243b02
12:49420184 KMT2D C>T	12	49420184	49420184	C	T	KMT2D	c.15565G>A	NM_003482.3	NP_003473.3:p.(Gly5189Arg)	NC_000012.11:g.49420184C>T	VUS	1 lab	58cae3e16d
15:73616570 HCN4 C>T	15	73616570	73616570	C	T	HCN4	c.2003G>A	NM_005477.2	NP_005468.1:p.(Arg668Gln)	NC_000015.9:g.73616570C>T	VUS	1 lab	58ce4a8dd0
6:162206948 PRKN G>A	6	162206948	162206948	G	A	PRKN	c.735-8C>T	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.162206948G>A	(Likely) benign	1 lab	58cf43f3cc
8:144995611 PLEC T>C	8	144995611	144995611	T	C	PLEC	c.8789A>G	NM_201380.3	NP_958782.1:p.(Gln2930Arg)	NC_000008.10:g.144995611T>C	(Likely) benign	1 lab	58d1378565
11:26681862 ANO3 A>G	11	26681862	26681862	A	G	ANO3	c.2817A>G	NM_031418.4	NP_113606.2:p.(Pro939=)	NC_000011.9:g.26681862A>G	(Likely) benign	1 lab	58d1444d51
21:34443289 OLIG1 C>A	21	34443289	34443289	C	A	OLIG1	c.737C>A	NM_138983.3	NP_620450.2:p.(Thr246Asn)	NC_000021.8:g.34443289C>A	(Likely) benign	1 lab	58d15ea879
18:20573010 RBBP8 TTATAAA>T	18	20573010	20573018	TTATAAA	T	RBBP8	c.1223_1228del	NM_002894.3	NP_002885.1:p.(Ile408_Asn409del)	NC_000018.9:g.20573013_20573018del	VUS	1 lab	58d44c42a0
3:197431564 RUBCN G>A	3	197431564	197431564	G	A	RUBCN	c.132C>T	NM_001145642.4	NP_001139114.1:p.(Ser44=)	NC_000003.11:g.197431564G>A	(Likely) benign	1 lab	58d492f4e2
5:90072330 ADGRV1 C>T	5	90072330	90072330	C	T	ADGRV1	c.12464C>T	NM_032119.4	NP_115495.3:p.(Pro4155Leu)	NC_000005.9:g.90072330C>T	VUS	1 lab	58d6968aff
19:43762563 PSG9 C>T	19	43762563	43762563	C	T	PSG9	c.1034G>A	NM_002784.5	NP_002775.3:p.(Arg345His)	NC_000019.9:g.43762563C>T	(Likely) benign	1 lab	58d71df815
6:112575034 LAMA4 C>T	6	112575034	112575034	C	T	LAMA4	c.319G>A	NM_001105209.2	NP_001098679.1:p.(Ala107Thr)	NC_000006.11:g.112575034C>T	(Likely) benign	1 lab	58d78a7994
6:33405598 SYNGAP1 G>A	6	33405598	33405598	G	A	SYNGAP1	c.916G>A	NM_006772.2	NP_006763.2:p.(Val306Ile)	NC_000006.11:g.33405598G>A	VUS	1 lab	58d7cfd55a
6:76602288 MYO6 A>G	6	76602288	76602288	A	G	MYO6	c.2988A>G	NM_004999.3	NP_004990.3:p.(Glu996=)	NC_000006.11:g.76602288A>G	(Likely) benign	1 lab	58d85c0a5f
9:80921252 PSAT1 G>A	9	80921252	80921252	G	A	PSAT1	c.420G>A	NM_058179.3	NP_478059.1:p.(Trp140Ter)	NC_000009.11:g.80921252G>A	(Likely) pathogenic	1 lab	58d9334771
9:117188663 WHRN G>A	9	117188663	117188663	G	A	WHRN	c.994C>T	NM_015404.3	NP_056219.3:p.(Arg332Trp)	NC_000009.11:g.117188663G>A	VUS	1 lab	58d9971b84
20:10629266 JAG1 AC>A	20	10629266	10629271	AC	A	JAG1	c.1499del	NM_000214.3	NP_000205.1:p.(Gly500ValfsTer64)	NC_000020.10:g.10629271del	(Likely) pathogenic	1 lab	58dc762b84
17:10600563 SCO1 AG>A	17	10600563	10600567	AG	A	SCO1	c.261del	NM_004589.4	NP_004580.1:p.(Ser88ArgfsTer11)	NC_000017.10:g.10600567del	VUS	1 lab	58de4863e5
9:136131114 ABO A>G	9	136131114	136131114	A	G	ABO	c.1004T>C	NM_020469.3	NP_065202.2:p.(Val335Ala)	NC_000009.11:g.136131114A>G	(Likely) benign	1 lab	58de4b0a54
9:130954150 CIZ1 C>T	9	130954150	130954150	C	T	CIZ1	c.69G>A	NM_001257975.1	NP_001244904.1:p.(Pro23=)	NC_000009.11:g.130954150C>T	(Likely) benign	1 lab	58df4d0f58
16:51172823 SALL1 G>C	16	51172823	51172823	G	C	SALL1	c.3019C>G	NM_001127892.1	NP_001121364.1:p.(Pro1007Ala)	NC_000016.9:g.51172823G>C	(Likely) benign	1 lab	58dfdfcafa
17:4436614 SPNS2 C>T	17	4436614	4436614	C	T	SPNS2	c.1165C>T	NM_001124758.3	NP_001118230.1:p.(Arg389Cys)	NC_000017.10:g.4436614C>T	VUS	1 lab	58e089ec78
19:50365503 PNKP G>C	19	50365503	50365503	G	C	PNKP	c.1065C>G	NM_007254.3	NP_009185.2:p.(Pro355=)	NC_000019.9:g.50365503G>C	(Likely) benign	1 lab	58e3569e3c
X:34148478 FAM47A C>G	X	34148478	34148478	C	G	FAM47A	c.1918G>C	NM_203408.3	NP_981953.2:p.(Glu640Gln)	NC_000023.10:g.34148478C>G	(Likely) benign	1 lab	58e3b2d6c0
9:135801077 TSC1 A>C	9	135801077	135801077	A	C	TSC1	c.260T>G	NM_000368.4	NP_000359.1:p.(Leu87Ter)	NC_000009.11:g.135801077A>C	(Likely) pathogenic	1 lab	58e4857d12
11:33360995 HIPK3 G>A	11	33360995	33360995	G	A	HIPK3	c.1528G>A	NM_005734.5	NP_005725.3:p.(Ala510Thr)	NC_000011.9:g.33360995G>A	VUS	1 lab	58e6b9c4fa
12:110230203 TRPV4 A>G	12	110230203	110230203	A	G	TRPV4	c.1856T>C	NM_021625.4	NP_067638.3:p.(Leu619Pro)	NC_000012.11:g.110230203A>G	(Likely) pathogenic	1 lab	58e8e0b03e
9:71836347 TJP2 G>A	9	71836347	71836347	G	A	TJP2	c.887G>A	NM_004817.4	NP_004808.2:p.(Ser296Asn)	NC_000009.11:g.71836347G>A	VUS	1 lab	58ea9960b2
11:2191997 TH C>T	11	2191997	2191997	C	T	TH	c.106G>A	NM_199292.2	NP_954986.2:p.(Ala36Thr)	NC_000011.9:g.2191997C>T	(Likely) benign	1 lab	58ec65dab9
X:53350111 IQSEC2 C>A	X	53350111	53350111	C	A	IQSEC2	c.211G>T	NM_001111125.2	NP_001104595.1:p.(Glu71Ter)	NC_000023.10:g.53350111C>A	(Likely) pathogenic	1 lab	58eddf0dcd
X:40483167 MPC1L C>T	X	40483167	40483167	C	T	MPC1L	c.350C>T	NM_001195522.2	NP_001182451.1:p.(Pro117Leu)	NC_000023.10:g.40483167C>T	VUS	1 lab	58ee562147
11:102587154 MMP8 G>GAA	11	102587154	102587178	G	GAA	MMP8	c.785-6_785-5dup	NM_002424.2	NP_002415.1:p.?	NC_000011.9:g.102587177_102587178dup	(Likely) benign	1 lab	58ee9821da
16:2134568 TSC2 T>TC	16	2134568	2134574	T	TC	TSC2	c.4351dup	NM_000548.3	NP_000539.2:p.(Arg1451ProfsTer73)	NC_000016.9:g.2134574dup	(Likely) pathogenic	1 lab	58ee999be2
10:134017300 DPYSL4 A>G	10	134017300	134017300	A	G	DPYSL4	c.1496A>G	NM_006426.3	NP_006417.2:p.(Tyr499Cys)	NC_000010.10:g.134017300A>G	VUS	1 lab	58ef95022b
14:24878777 NYNRIN A>G	14	24878777	24878777	A	G	NYNRIN	c.1777A>G	NM_025081.3	NP_079357.2:p.(Thr593Ala)	NC_000014.8:g.24878777A>G	(Likely) benign	1 lab	58f3ddabc8
15:44892732 SPG11 G>A	15	44892732	44892732	G	A	SPG11	c.3619C>T	NM_025137.3	NP_079413.3:p.(Arg1207Trp)	NC_000015.9:g.44892732G>A	VUS	1 lab	58f43c1df0
14:68260455 ZFYVE26 G>C	14	68260455	68260455	G	C	ZFYVE26	c.2423C>G	NM_015346.3	NP_056161.2:p.(Ser808Cys)	NC_000014.8:g.68260455G>C	VUS	1 lab	58f653ef59
17:4856369 ENO3 A>C	17	4856369	4856369	A	C	ENO3	c.205A>C	NM_001976.4	NP_001967.3:p.(Ile69Leu)	NC_000017.10:g.4856369A>C	(Likely) benign	1 lab	58f72c2d3e
14:74959922 NPC2 G>T	14	74959922	74959922	G	T	NPC2	c.56C>A	NM_006432.4	NP_006423.1:p.(Ala19Asp)	NC_000014.8:g.74959922G>T	VUS	1 lab	58f760c866
X:115572204 SLC6A14 A>C	X	115572204	115572204	A	C	SLC6A14	c.285A>C	NM_007231.4	NP_009162.1:p.(Ser95=)	NC_000023.10:g.115572204A>C	(Likely) benign	1 lab	58f7921639
19:36221611 KMT2B C>T	19	36221611	36221611	C	T	KMT2B	c.5280C>T	NM_014727.2	NP_055542.1:p.(Cys1760=)	NC_000019.9:g.36221611C>T	(Likely) benign	1 lab	58f8189461
2:209010530 CRYGB C>T	2	209010530	209010530	C	T	CRYGB	c.220G>A	NM_005210.3	NP_005201.2:p.(Asp74Asn)	NC_000002.11:g.209010530C>T	(Likely) benign	1 lab	58f88560da
1:202394749 PPP1R12B C>T	1	202394749	202394749	C	T	PPP1R12B	c.597C>T	NM_002481.4	NP_002472.2:p.(Ala199=)	NC_000001.10:g.202394749C>T	(Likely) benign	1 lab	58fbf802d8
20:35243756 SLA2 C>T	20	35243756	35243756	C	T	SLA2	c.404G>A	NM_032214.3	NP_115590.1:p.(Arg135His)	NC_000020.10:g.35243756C>T	VUS	1 lab	58fd7bb8a4
1:248737977 OR2T34 G>T	1	248737977	248737977	G	T	OR2T34	c.82C>A	NM_001001821.1	NP_001001821.1:p.(His28Asn)	NC_000001.10:g.248737977G>T	VUS	1 lab	58fda49ccc
5:137515500 KIF20A C>T	5	137515500	137515500	C	T	KIF20A	c.131C>T	NM_005733.3	NP_005724.1:p.(Ser44Phe)	NC_000005.9:g.137515500C>T	(Likely) benign	1 lab	58fea534da
3:4702781 ITPR1 G>A	3	4702781	4702781	G	A	ITPR1	c.1206+10G>A	NM_001168272.1	NP_001161744.1:p.?	NC_000003.11:g.4702781G>A	(Likely) benign	1 lab	58ff925c80
18:7014013 LAMA1 CGATGAT>C	18	7014013	7014021	CGATGAT	C	LAMA1	c.3158_3163del	NM_005559.4	NP_005550.2:p.(His1053_His1054del)	NC_000018.9:g.7014016_7014021del	VUS	1 lab	58ffad6ca3
15:78770711 IREB2 A>G	15	78770711	78770711	A	G	IREB2	c.1268A>G	NM_004136.4	NP_004127.2:p.(Asn423Ser)	NC_000015.9:g.78770711A>G	(Likely) benign	1 lab	5900027849
6:56425219 DST C>T	6	56425219	56425219	C	T	DST	c.7956G>A	NM_001144769.2	NP_001138241.1:p.(Ser2652=)	NC_000006.11:g.56425219C>T	(Likely) benign	1 lab	59015b45f8
12:21196367 SLCO1B7 T>A	12	21196367	21196367	T	A	SLCO1B7	c.686T>A	NM_001009562.4	NP_001009562.3:p.(Phe229Tyr)	NC_000012.11:g.21196367T>A	VUS	1 lab	590283dd1e
4:6303479 WFS1 C>T	4	6303479	6303479	C	T	WFS1	c.1957C>T	NM_006005.3	NP_005996.2:p.(Arg653Cys)	NC_000004.11:g.6303479C>T	VUS	1 lab	5902f58179
9:135781262 TSC1 CCCGCAGGGCTTTCATCAGCACTG>C	9	135781262	135781294	CCCGCAGGGCTTTCATCAGCACTG	C	TSC1	c.1680_1702del	NM_000368.5	NP_000359.1:p.(Ser561ArgfsTer19)	NC_000009.11:g.135781272_135781294del	(Likely) pathogenic	1 lab	5903bf5b60
20:3888610 PANK2 G>A	20	3888610	3888610	G	A	PANK2	c.666G>A	NM_153638.2	NP_705902.2:p.(Leu222=)	NC_000020.10:g.3888610G>A	(Likely) benign	1 lab	590424fda9
19:17838815 MAP1S C>G	19	17838815	17838815	C	G	MAP1S	c.2544C>G	NM_001308363.1	NP_001295292.1:p.(Ala848=)	NC_000019.9:g.17838815C>G	(Likely) benign	1 lab	5905cded0e
2:179566902 TTN C>T	2	179566902	179566902	C	T	TTN	c.30504G>A	NM_001267550.1	NP_001254479.1:p.(Thr10168=)	NC_000002.11:g.179566902C>T	(Likely) benign	1 lab	5905ea1424
7:35242243 TBX20 G>A	7	35242243	35242243	G	A	TBX20	c.1143C>T	NM_001077653.2	NP_001071121.1:p.(His381=)	NC_000007.13:g.35242243G>A	(Likely) benign	1 lab	590815adfb
2:29293874 PCARE G>A	2	29293874	29293874	G	A	PCARE	c.3254C>T	NM_001029883.2	NP_001025054.1:p.(Ser1085Leu)	NC_000002.11:g.29293874G>A	(Likely) benign	1 lab	590854d1fa
X:47061646 UBA1 T>G	X	47061646	47061646	T	G	UBA1	c.903T>G	NM_003334.4	NP_003325.2:p.(Ile301Met)	NC_000023.10:g.47061646T>G	VUS	1 lab	5909d3a759
16:14698077 PARN G>A	16	14698077	14698077	G	A	PARN	c.709C>T	NM_002582.4	NP_002573.1:p.(Arg237Ter)	NC_000016.9:g.14698077G>A	VUS	1 lab	590a7bf472
X:68058492 EFNB1 C>T	X	68058492	68058492	C	T	EFNB1	c.161C>T	NM_004429.4	NP_004420.1:p.(Pro54Leu)	NC_000023.10:g.68058492C>T	(Likely) pathogenic	1 lab	590bdda3ed
7:21940667 DNAH11 G>A	7	21940667	21940667	G	A	DNAH11				NC_000007.13:g.21940667G>A	(Likely) benign	1 lab	590d290d90
17:29541466 NF1 TA>T	17	29541466	29541467	TA	T	NF1	c.1393-2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29541467del	(Likely) pathogenic	1 lab	590edc1a08
18:6948481 LAMA1 C>T	18	6948481	6948481	C	T	LAMA1	c.8631G>A	NM_005559.3	NP_005550.2:p.(Val2877=)	NC_000018.9:g.6948481C>T	(Likely) benign	1 lab	590f60fdf1
X:48457218 WDR13 G>A	X	48457218	48457218	G	A	WDR13	c.155G>A	NM_001347217.2	NP_001334146.1:p.(Arg52Gln)	NC_000023.10:g.48457218G>A	VUS	1 lab	5912b7880a
1:94510163 ABCA4 G>A	1	94510163	94510163	G	A	ABCA4	c.3050+6C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94510163G>A	(Likely) benign	1 lab	5915a6274b
17:29653033 NF1 CTA>C	17	29653033	29653038	CTA	C	NF1	c.5035_5036del	NM_001042492.3	NP_001035957.1:p.(Ile1679LeufsTer2)	NC_000017.10:g.29653037_29653038del	(Likely) pathogenic	1 lab	59173c1075
1:152192823 HRNR G>T	1	152192823	152192823	G	T	HRNR	c.1282C>A	NM_001009931.2	NP_001009931.1:p.(Gln428Lys)	NC_000001.10:g.152192823G>T	(Likely) benign	1 lab	591868e944
7:76069617 ZP3 TG>T	7	76069617	76069618	TG	T	ZP3	c.883del	NM_001110354.2	NP_001103824.1:p.(Glu295AsnfsTer46)	NC_000007.13:g.76069618del	(Likely) pathogenic	1 lab	5919bc4f49
14:74706608 VSX2 T>C	14	74706608	74706608	T	C	VSX2	c.344T>C	NM_182894.2	NP_878314.1:p.(Leu115Pro)	NC_000014.8:g.74706608T>C	VUS	1 lab	591aa645f6
19:6495192 TUBB4A C>T	19	6495192	6495192	C	T	TUBB4A	c.1318G>A	NM_006087.4	NP_006078.2:p.(Glu440Lys)	NC_000019.9:g.6495192C>T	VUS	1 lab	591b0df44f
11:108143305 ATM CT>C	11	108143305	108143306	CT	C	ATM	c.3125del	NM_000051.4	NP_000042.3:p.(Leu1042GlnfsTer2)	NC_000011.9:g.108143306del	(Likely) pathogenic	1 lab	591b3a14fb
9:14823283 FREM1 G>C	9	14823283	14823283	G	C	FREM1	c.2212C>G	NM_144966.5	NP_659403.4:p.(Gln738Glu)	NC_000009.11:g.14823283G>C	VUS	1 lab	591f05070b
9:96021573 WNK2 G>A	9	96021573	96021573	G	A	WNK2	c.2743G>A	NM_001282394.1	NP_001269323.1:p.(Ala915Thr)	NC_000009.11:g.96021573G>A	(Likely) benign	1 lab	591f0dc7fc
2:209200585 PIKFYVE CAA>C	2	209200585	209200587	CAA	C	PIKFYVE	c.4326_4327del	NM_015040.4	NP_055855.2:p.(Glu1444GlyfsTer16)	NC_000002.11:g.209200586_209200587del	(Likely) pathogenic	1 lab	592209e823
14:23901053 MYH7 C>T	14	23901053	23901053	C	T	MYH7	c.556G>A	NM_000257.2	NP_000248.2:p.(Val186Ile)	NC_000014.8:g.23901053C>T	VUS	1 lab	5922f4c416
5:149449542 CSF1R C>T	5	149449542	149449542	C	T	CSF1R	c.1404G>A	NM_005211.3	NP_005202.2:p.(Val468=)	NC_000005.9:g.149449542C>T	(Likely) benign	1 lab	5923e673fb
1:223442011 SUSD4 C>T	1	223442011	223442011	C	T	SUSD4	c.368G>A	NM_017982.4	NP_060452.3:p.(Arg123His)	NC_000001.10:g.223442011C>T	VUS	1 lab	59241c099b
X:49066141 CACNA1F T>C	X	49066141	49066141	T	C	CACNA1F	c.4802A>G	NM_005183.3	NP_005174.2:p.(Glu1601Gly)	NC_000023.10:g.49066141T>C	VUS	1 lab	59259bef16
X:152807377 ATP2B3 C>A	X	152807377	152807377	C	A	ATP2B3	c.657C>A	NM_021949.3	NP_068768.2:p.(Val219=)	NC_000023.10:g.152807377C>A	VUS	1 lab	5927252301
4:981602 IDUA C>CG	4	981602	981603	C	CG	IDUA	c.165dup	NM_000203.5	NP_000194.2:p.(Leu56AlafsTer7)	NC_000004.11:g.981603dup	(Likely) pathogenic	1 lab	592978f226
12:133197068 P2RX2 C>G	12	133197068	133197068	C	G	P2RX2	c.673C>G	NM_001282165.1	NP_001269094.1:p.(Arg225Gly)	NC_000012.11:g.133197068C>G	VUS	1 lab	592d0d3966
X:112022338 AMOT G>A	X	112022338	112022338	G	A	AMOT	c.3044C>T	NM_001113490.1	NP_001106962.1:p.(Ala1015Val)	NC_000023.10:g.112022338G>A	(Likely) benign	1 lab	592dab39f3
12:102224310 GNPTAB G>C	12	102224310	102224310	G	C	GNPTAB	c.117+27C>G	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102224310G>C	(Likely) benign	1 lab	592e77b1aa
4:6279205 WFS1 T>C	4	6279205	6279205	T	C	WFS1	c.23T>C	NM_006005.3	NP_005996.2:p.(Leu8Pro)	NC_000004.11:g.6279205T>C	(Likely) benign	1 lab	5930790bf9
8:82598208 IMPA1 G>A	8	82598208	82598208	G	A	IMPA1	c.-48-10C>T	NM_001144878.1	NP_001138350.1:p.?	NC_000008.10:g.82598208G>A	(Likely) benign	1 lab	59312d51d9
6:158924470 TULP4 G>A	6	158924470	158924470	G	A	TULP4	c.3775G>A	NM_020245.5	NP_064630.2:p.(Ala1259Thr)	NC_000006.11:g.158924470G>A	(Likely) benign	1 lab	5931b1d5a1
1:230845777 AGT T>A	1	230845777	230845777	T	A	AGT	c.820A>T	NM_000029.3	NP_000020.1:p.(Ser274Cys)	NC_000001.10:g.230845777T>A	VUS	1 lab	59330e68fc
1:201333485 TNNT2 G>T	1	201333485	201333485	G	T	TNNT2	c.400C>A	NM_001276347.1	NP_001263276.1:p.(Arg134=)	NC_000001.10:g.201333485G>T	VUS	1 lab	59356db8b2
17:78081532 GAA G>A	17	78081532	78081532	G	A	GAA	c.858+11G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78081532G>A	(Likely) benign	1 lab	5935e53da1
12:108930319 SART3 C>G	12	108930319	108930319	C	G	SART3	c.1417G>C	NM_014706.4	NP_055521.1:p.(Val473Leu)	NC_000012.11:g.108930319C>G	(Likely) benign	1 lab	593653952b
18:21395143 LAMA3 T>C	18	21395143	21395143	T	C	LAMA3	c.1889-9T>C	NM_198129.2	NP_937762.2:p.?	NC_000018.9:g.21395143T>C	(Likely) benign	1 lab	593877aaef
10:54053612 PRKG1 C>T	10	54053612	54053612	C	T	PRKG1	c.2013C>T	NM_006258.4	NP_006249.1:p.(Asn671=)	NC_000010.10:g.54053612C>T	(Likely) benign	1 lab	5939cd8b9d
9:100201518 TDRD7 A>T	9	100201518	100201518	A	T	TDRD7	c.564-9A>T	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100201518A>T	(Likely) benign	1 lab	593afa4728
8:61748674 CHD7 AT>A	8	61748674	61748675	AT	A	CHD7	c.3822del	NM_017780.4	NP_060250.2:p.(Asn1274LysfsTer12)	NC_000008.10:g.61748675del	(Likely) pathogenic	1 lab	f25d770170
6:41877175 MED20 A>G	6	41877175	41877175	A	G	MED20	c.69T>C	NM_001305456.1	NP_001292385.1:p.(Leu23=)	NC_000006.11:g.41877175A>G	(Likely) benign	1 lab	593bf8a62c
9:135163634 SETX G>A	9	135163634	135163634	G	A	SETX	c.6313C>T	NM_001351527.1	NP_001338456.1:p.(Arg2105Trp)	NC_000009.11:g.135163634G>A	VUS	1 lab	593db30798
17:29483113 NF1 T>C	17	29483113	29483113	T	C	NF1	c.173T>C	NM_000267.3	NP_000258.1:p.(Leu58Pro)	NC_000017.10:g.29483113T>C	(Likely) pathogenic	1 lab	5941d10dfe
2:74594553 DCTN1 G>A	2	74594553	74594553	G	A	DCTN1	c.2185-6C>T	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74594553G>A	(Likely) benign	1 lab	5941f29bee
7:21912891 DNAH11 G>C	7	21912891	21912891	G	C	DNAH11				NC_000007.13:g.21912891G>C	(Likely) pathogenic	1 lab	5942991622
2:74757311 HTRA2 C>T	2	74757311	74757311	C	T	HTRA2	c.178C>T	NM_013247.4	NP_037379.1:p.(Arg60Trp)	NC_000002.11:g.74757311C>T	VUS	1 lab	594481c78a
22:27024293 CRYBA4 C>A	22	27024293	27024293	C	A	CRYBA4	c.342C>A	NM_001886.2	NP_001877.1:p.(Asn114Lys)	NC_000022.10:g.27024293C>A	VUS	1 lab	594692c6a5
9:67930705 ANKRD20A1 G>T	9	67930705	67930705	G	T	ANKRD20A1	c.360G>T	NM_032250.3	NP_115626.2:p.(Leu120=)	NC_000009.11:g.67930705G>T	(Likely) benign	1 lab	5946f648c6
1:240370907 FMN2 T>C	1	240370907	240370907	T	C	FMN2	c.2795T>C	NM_020066.5	NP_064450.3:p.(Leu932Pro)	NC_000001.10:g.240370907T>C	(Likely) benign	1 lab	594777c97a
X:16852409 TXLNG T>C	X	16852409	16852409	T	C	TXLNG	c.988T>C	NM_018360.2	NP_060830.2:p.(Leu330=)	NC_000023.10:g.16852409T>C	(Likely) benign	1 lab	594877e7a2
2:112733049 MERTK G>T	2	112733049	112733049	G	T	MERTK	c.1144G>T	NM_006343.2	NP_006334.2:p.(Ala382Ser)	NC_000002.11:g.112733049G>T	VUS	1 lab	5948efb25c
6:72962534 RIMS1 A>G	6	72962534	72962534	A	G	RIMS1	c.2769A>G	NM_014989.5	NP_055804.2:p.(Pro923=)	NC_000006.11:g.72962534A>G	VUS	1 lab	59490bfd01
20:62195646 HELZ2 G>A	20	62195646	62195646	G	A	HELZ2	c.4529C>T	NM_001037335.2	NP_001032412.2:p.(Pro1510Leu)	NC_000020.10:g.62195646G>A	(Likely) benign	1 lab	59492d62b1
7:100280295 GIGYF1 G>A	7	100280295	100280295	G	A	GIGYF1	c.2518C>T	NM_001375765.1	NP_001362694.1:p.(Leu840Phe)	NC_000007.13:g.100280295G>A	VUS	1 lab	f25e0be5df
15:52689458 MYO5A T>C	15	52689458	52689458	T	C	MYO5A	c.1259A>G	NM_000259.3	NP_000250.3:p.(Asn420Ser)	NC_000015.9:g.52689458T>C	VUS	1 lab	594d4f3da8
5:149447769 CSF1R C>T	5	149447769	149447769	C	T	CSF1R	c.1626+9G>A	NM_001349736.1	NP_001336665.1:p.?	NC_000005.9:g.149447769C>T	(Likely) benign	1 lab	594eebae7b
2:48026727 MSH6 CAGTA>C	2	48026727	48026735	CAGTA	C	MSH6	c.1610_1613del	NM_000179.3	NP_000170.1:p.(Lys537IlefsTer33)	NC_000002.11:g.48026732_48026735del	(Likely) pathogenic	1 lab	f25f7a0414
20:5095929 PCNA C>T	20	5095929	5095929	C	T	PCNA	c.786G>A	NM_002592.2	NP_002583.1:p.(Ter262=)	NC_000020.10:g.5095929C>T	(Likely) benign	1 lab	594f67706f
22:39621837 PDGFB G>GTTTGGGGCGT	22	39621837	39621852	G	GTTTGGGGCGT	PDGFB	c.607_616dup	NM_002608.3	NP_002599.1:p.(Thr206AsnfsTer29)	NC_000022.10:g.39621843_39621852dup	VUS	1 lab	59502be667
17:56435455 RNF43 C>T	17	56435455	56435455	C	T	RNF43	c.1682G>A	NM_017763.5	NP_060233.3:p.(Arg561Gln)	NC_000017.10:g.56435455C>T	(Likely) benign	1 lab	59511855bd
17:59485710 TBX2 A>G	17	59485710	59485710	A	G	TBX2	c.1982A>G	NM_005994.4	NP_005985.3:p.(Glu661Gly)	NC_000017.10:g.59485710A>G	VUS	1 lab	f260358950
16:72832618 ZFHX3 T>TAA	16	72832618	72832634	T	TAA	ZFHX3	c.3968-7_3968-6dup	NM_006885.3	NP_008816.3:p.?	NC_000016.9:g.72832633_72832634dup	(Likely) benign	1 lab	5951fcaa3e
7:42079772 GLI3 G>GGT	7	42079772	42079775	G	GGT	GLI3	c.891_892dup	NM_000168.5	NP_000159.3:p.(Pro298HisfsTer13)	NC_000007.13:g.42079774_42079775dup	(Likely) pathogenic	1 lab	595277337e
12:49444460 KMT2D A>C	12	49444460	49444460	A	C	KMT2D	c.2911T>G	NM_003482.3	NP_003473.3:p.(Ser971Ala)	NC_000012.11:g.49444460A>C	VUS	1 lab	5953838cd8
16:1840851 IGFALS G>A	16	1840851	1840851	G	A	IGFALS	c.1682C>T	NM_001146006.1	NP_001139478.1:p.(Pro561Leu)	NC_000016.9:g.1840851G>A	VUS	1 lab	595401d8bf
X:153695778 PLXNA3 G>A	X	153695778	153695778	G	A	PLXNA3	c.3405G>A	NM_017514.4	NP_059984.3:p.(Val1135=)	NC_000023.10:g.153695778G>A	(Likely) benign	1 lab	5956ad5c5a
3:11059568 SLC6A1 C>CG	3	11059568	11059573	C	CG	SLC6A1	c.283dup	NM_003042.3	NP_003033.3:p.(Val95GlyfsTer112)	NC_000003.11:g.11059573dup	(Likely) pathogenic	1 lab	595830f930
9:123760016 C5 TG>T	9	123760016	123760017	TG	T	C5	c.2598del	NM_001735.3	NP_001726.2:p.(Cys866Ter)	NC_000009.11:g.123760017del	VUS	1 lab	59589fe88f
19:21910020 ZNF100 A>G	19	21910020	21910020	A	G	ZNF100	c.1094T>C	NM_173531.3	NP_775802.2:p.(Ile365Thr)	NC_000019.9:g.21910020A>G	(Likely) benign	1 lab	5958d0ba1c
21:44590672 CRYAA C>A	21	44590672	44590672	C	A	CRYAA	c.235C>A	NM_000394.3	NP_000385.1:p.(His79Asn)	NC_000021.8:g.44590672C>A	VUS	1 lab	595b1598fe
11:66617859 PC G>A	11	66617859	66617859	G	A	PC	c.2550C>T	NM_001040716.1	NP_001035806.1:p.(Cys850=)	NC_000011.9:g.66617859G>A	(Likely) benign	1 lab	595b379efc
11:6661205 DCHS1 A>G	11	6661205	6661205	A	G	DCHS1				NC_000011.9:g.6661205A>G	(Likely) benign	1 lab	595c3f8197
17:29556269 NF1 C>G	17	29556269	29556269	C	G	NF1	c.2636C>G	NM_000267.3	NP_000258.1:p.(Ser879Ter)	NC_000017.10:g.29556269C>G	(Likely) pathogenic	1 lab	595cc73992
16:70286638 AARS1 C>CG	16	70286638	70286639	C	CG	AARS1	c.2892_2893insC	NM_001605.2	NP_001596.2:p.(Asp965ArgfsTer30)	NC_000016.9:g.70286638_70286639insG	(Likely) pathogenic	1 lab	595dc648f4
12:7053672 C12orf57 C>T	12	7053672	7053672	C	T	C12orf57	c.86C>T	NM_138425.3	NP_612434.1:p.(Ala29Val)	NC_000012.11:g.7053672C>T	(Likely) benign	1 lab	595f2ac786
19:10464771 TYK2 C>G	19	10464771	10464771	C	G	TYK2	c.2855G>C	NM_003331.4	NP_003322.3:p.(Arg952Pro)	NC_000019.9:g.10464771C>G	VUS	1 lab	595f3c2792
1:185935055 HMCN1 T>G	1	185935055	185935055	T	G	HMCN1	c.2212+8T>G	NM_031935.2	NP_114141.2:p.?	NC_000001.10:g.185935055T>G	(Likely) benign	1 lab	595ff6c28b
8:20074763 ATP6V1B2 A>G	8	20074763	20074763	A	G	ATP6V1B2	c.1194A>G	NM_001693.3	NP_001684.2:p.(Leu398=)	NC_000008.10:g.20074763A>G	(Likely) benign	1 lab	59622b7fe8
1:202715288 KDM5B G>A	1	202715288	202715288	G	A	KDM5B	c.2288C>T	NM_001314042.1	NP_001300971.1:p.(Pro763Leu)	NC_000001.10:g.202715288G>A	(Likely) benign	1 lab	5963599b68
2:219137341 PNKD G>A	2	219137341	219137341	G	A	PNKD	c.285G>A	NM_001077399.2	NP_001070867.1:p.(Arg95=)	NC_000002.11:g.219137341G>A	(Likely) benign	1 lab	5964732324
8:62438668 ASPH A>C	8	62438668	62438668	A	C	ASPH	c.1768T>G	NM_004318.3	NP_004309.2:p.(Leu590Val)	NC_000008.10:g.62438668A>C	VUS	1 lab	59679e4db3
5:41807543 OXCT1 A>G	5	41807543	41807543	A	G	OXCT1	c.733-3T>C	NM_000436.3	NP_000427.1:p.?	NC_000005.9:g.41807543A>G	(Likely) benign	1 lab	596a09cdac
X:50378636 SHROOM4 C>T	X	50378636	50378636	C	T	SHROOM4	c.437G>A	NM_020717.3	NP_065768.2:p.(Arg146Gln)	NC_000023.10:g.50378636C>T	(Likely) benign	1 lab	596a8a9706
7:158486161 NCAPG2 T>C	7	158486161	158486161	T	C	NCAPG2	c.107A>G	NM_001281933.1	NP_001268862.1:p.(Asn36Ser)	NC_000007.13:g.158486161T>C	(Likely) benign	1 lab	596ca4cf49
17:29679342 NF1 CCA>AT	17	29679342	29679344	CCA	AT	NF1	c.7462_7464delinsAT	NM_000267.3	NP_000258.1:p.(Pro2488IlefsTer14)	NC_000017.10:g.29679342_29679344delinsAT	(Likely) pathogenic	1 lab	596cf894b6
7:35242110 TBX20 GA>G	7	35242110	35242114	GA	G	TBX20	c.1275del	NM_001077653.2	NP_001071121.1:p.(Gln426SerfsTer17)	NC_000007.13:g.35242114del	VUS	1 lab	f2611ea297
1:242020670 EXO1 T>A	1	242020670	242020670	T	A	EXO1	c.429T>A	NM_130398.3	NP_569082.2:p.(Asp143Glu)	NC_000001.10:g.242020670T>A	VUS	1 lab	596d907177
12:44177510 IRAK4 C>T	12	44177510	44177510	C	T	IRAK4	c.799C>T	NM_001351338.1	NP_001338267.1:p.(Arg267Cys)	NC_000012.11:g.44177510C>T	VUS	1 lab	596e02f588
9:404946 DOCK8 C>T	9	404946	404946	C	T	DOCK8	c.3263C>T	NM_203447.3	NP_982272.2:p.(Thr1088Met)	NC_000009.11:g.404946C>T	VUS	1 lab	596e2ada15
16:30723277 SRCAP C>T	16	30723277	30723277	C	T	SRCAP	c.1614C>T	NM_006662.2	NP_006653.2:p.(Ser538=)	NC_000016.9:g.30723277C>T	(Likely) benign	1 lab	596ec9adc6
11:119215041 MFRP T>G	11	119215041	119215041	T	G	MFRP	c.959A>C	NM_031433.3	NP_113621.1:p.(Gln320Pro)	NC_000011.9:g.119215041T>G	(Likely) benign	1 lab	596ecd1d8b
X:135631154 VGLL1 C>A	X	135631154	135631154	C	A	VGLL1	c.621C>A	NM_016267.3	NP_057351.1:p.(Pro207=)	NC_000023.10:g.135631154C>A	(Likely) benign	1 lab	59701fffa1
11:118344352 KMT2A A>G	11	118344352	118344352	A	G	KMT2A	c.2478A>G	NM_001197104.1	NP_001184033.1:p.(Pro826=)	NC_000011.9:g.118344352A>G	(Likely) benign	1 lab	597070e89f
20:3212175 SLC4A11 A>G	20	3212175	3212175	A	G	SLC4A11	c.878T>C	NM_001174090.1	NP_001167561.1:p.(Met293Thr)	NC_000020.10:g.3212175A>G	VUS	1 lab	5970d98e73
1:214537978 PTPN14 G>A	1	214537978	214537978	G	A	PTPN14	c.3312C>T	NM_005401.4	NP_005392.2:p.(Asn1104=)	NC_000001.10:g.214537978G>A	(Likely) benign	1 lab	597123bb27
3:52546895 STAB1 T>C	3	52546895	52546895	T	C	STAB1	c.3079T>C	NM_015136.3	NP_055951.2:p.(Ser1027Pro)	NC_000003.11:g.52546895T>C	VUS	1 lab	5971599075
10:49635155 MAPK8 T>G	10	49635155	49635155	T	G	MAPK8	c.1029T>G	NM_001323302.1	NP_001310231.1:p.(Asp343Glu)	NC_000010.10:g.49635155T>G	(Likely) benign	1 lab	597197de82
17:79791729 PPP1R27 C>T	17	79791729	79791729	C	T	PPP1R27	c.342-1G>A	NM_001007533.4	NP_001007534.1:p.?	NC_000017.10:g.79791729C>T	VUS	1 lab	5976b710ac
X:135303075 MAP7D3 T>C	X	135303075	135303075	T	C	MAP7D3	c.2230A>G	NM_001173517.1	NP_001166988.1:p.(Asn744Asp)	NC_000023.10:g.135303075T>C	(Likely) benign	1 lab	5978574c5d
10:68139054 CTNNA3 CA>AT	10	68139054	68139055	CA	AT	CTNNA3	c.1587_1588delinsAT	NM_013266.3	NP_037398.2:p.(Asp529_Ala530delinsGluSer)	NC_000010.10:g.68139054_68139055delinsAT	VUS	1 lab	597961fb5f
19:50367593 PNKP G>C	19	50367593	50367593	G	C	PNKP	c.566C>G	NM_007254.3	NP_009185.2:p.(Pro189Arg)	NC_000019.9:g.50367593G>C	VUS	1 lab	59798bdbe4
10:72201389 NODAL G>C	10	72201389	72201389	G	C	NODAL	c.35C>G	NM_018055.4	NP_060525.3:p.(Ala12Gly)	NC_000010.10:g.72201389G>C	(Likely) benign	1 lab	597a6eec04
14:102467996 DYNC1H1 T>C	14	102467996	102467996	T	C	DYNC1H1	c.4520T>C	NM_001376.4	NP_001367.2:p.(Met1507Thr)	NC_000014.8:g.102467996T>C	VUS	1 lab	597b439074
10:73490289 CDH23 C>T	10	73490289	73490289	C	T	CDH23	c.3643C>T	NM_022124.5	NP_071407.4:p.(Arg1215Cys)	NC_000010.10:g.73490289C>T	VUS	1 lab	597db97b89
9:137674488 COL5A1 G>A	9	137674488	137674488	G	A	COL5A1	c.2431-25G>A	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137674488G>A	(Likely) benign	1 lab	597e1628e7
10:50732306 ERCC6 C>T	10	50732306	50732306	C	T	ERCC6	c.1170G>A	NM_000124.2	NP_000115.1:p.(Gly390=)	NC_000010.10:g.50732306C>T	(Likely) benign	1 lab	597f0009eb
19:42485678 ATP1A3 G>A	19	42485678	42485678	G	A	ATP1A3	c.1452C>T	NM_001256214.1	NP_001243143.1:p.(Pro484=)	NC_000019.9:g.42485678G>A	(Likely) benign	1 lab	597fb38d99
5:90261255 ADGRV1 C>T	5	90261255	90261255	C	T	ADGRV1	c.17880C>T	NM_032119.4	NP_115495.3:p.(Tyr5960=)	NC_000005.9:g.90261255C>T	(Likely) benign	1 lab	598276ed91
14:23886065 MYH7 A>C	14	23886065	23886065	A	C	MYH7	c.4644+12T>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886065A>C	(Likely) benign	1 lab	5984d74689
4:69433921 UGT2B17 G>A	4	69433921	69433921	G	A	UGT2B17	c.282C>T	NM_001077.3	NP_001068.1:p.(Phe94=)	NC_000004.11:g.69433921G>A	(Likely) benign	1 lab	59862a2f14
8:22273752 SLC39A14 C>T	8	22273752	22273752	C	T	SLC39A14	c.1106C>T	NM_001135153.2	NP_001128625.1:p.(Thr369Ile)	NC_000008.10:g.22273752C>T	VUS	1 lab	5986a561ff
17:29553523 NF1 T>G	17	29553523	29553523	T	G	NF1	c.2072T>G	NM_000267.3	NP_000258.1:p.(Leu691Arg)	NC_000017.10:g.29553523T>G	(Likely) pathogenic	1 lab	598736e7e8
5:74016999 HEXB A>G	5	74016999	74016999	A	G	HEXB	c.995A>G	NM_001292004.1	NP_001278933.1:p.(Ter332=)	NC_000005.9:g.74016999A>G	(Likely) benign	1 lab	5988bfe197
15:76994188 SCAPER GAT>G	15	76994188	76994193	GAT	G	SCAPER	c.2417_2418del	NM_020843.4	NP_065894.2:p.(Tyr806SerfsTer3)	NC_000015.9:g.76994192_76994193del	(Likely) pathogenic	1 lab	59891b4f30
X:123699388 TENM1 A>G	X	123699388	123699388	A	G	TENM1	c.2100T>C	NM_001163278.1	NP_001156750.1:p.(Gly700=)	NC_000023.10:g.123699388A>G	(Likely) benign	1 lab	59894cfc6e
21:33044594 SCAF4 G>A	21	33044594	33044594	G	A	SCAF4	c.2562C>T	NM_020706.2	NP_065757.1:p.(Pro854=)	NC_000021.8:g.33044594G>A	(Likely) benign	1 lab	59896fa0fc
X:107418913 COL4A6 G>A	X	107418913	107418913	G	A	COL4A6	c.2852C>T	NM_001287758.1	NP_001274687.1:p.(Ser951Phe)	NC_000023.10:g.107418913G>A	VUS	1 lab	598a0b850f
15:22382480 OR4N4 T>C	15	22382480	22382480	T	C	OR4N4	c.8T>C	NM_001005241.3	NP_001005241.2:p.(Ile3Thr)	NC_000015.9:g.22382480T>C	(Likely) benign	1 lab	598a93f254
9:117844081 TNC C>A	9	117844081	117844081	C	A	TNC	c.2374G>T	NM_002160.3	NP_002151.2:p.(Gly792Cys)	NC_000009.11:g.117844081C>A	VUS	1 lab	598d95475f
11:76868445 MYO7A C>G	11	76868445	76868445	C	G	MYO7A	c.849+7C>G	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76868445C>G	(Likely) benign	1 lab	598da13b24
X:47040660 RBM10 C>T	X	47040660	47040660	C	T	RBM10	c.1490C>T	NM_001204468.1	NP_001191397.1:p.(Pro497Leu)	NC_000023.10:g.47040660C>T	(Likely) benign	1 lab	5990e7b935
X:153060205 SSR4 C>T	X	153060205	153060205	C	T	SSR4	c.87C>T	NM_001204527.1	NP_001191456.1:p.(Cys29=)	NC_000023.10:g.153060205C>T	(Likely) benign	1 lab	5995431a1f
19:48947176 GRIN2D C>A	19	48947176	48947176	C	A	GRIN2D	c.3993C>A	NM_000836.2	NP_000827.2:p.(Ser1331Arg)	NC_000019.9:g.48947176C>A	VUS	1 lab	5995f572a7
1:228526607 OBSCN A>G	1	228526607	228526607	A	G	OBSCN	c.20009A>G	NM_001271223.2	NP_001258152.2:p.(Gln6670Arg)	NC_000001.10:g.228526607A>G	VUS	1 lab	599600ea7d
6:45870870 CLIC5 G>A	6	45870870	45870870	G	A	CLIC5	c.1188C>T	NM_001114086.1	NP_001107558.1:p.(Ile396=)	NC_000006.11:g.45870870G>A	(Likely) benign	1 lab	59972ddb45
X:152825373 ATP2B3 G>A	X	152825373	152825373	G	A	ATP2B3	c.2812G>A	NM_021949.3	NP_068768.2:p.(Ala938Thr)	NC_000023.10:g.152825373G>A	(Likely) benign	1 lab	599745cd1e
14:31349830 COCH C>T	14	31349830	31349830	C	T	COCH	c.714C>T	NM_001347720.1	NP_001334649.1:p.(Ser238=)	NC_000014.8:g.31349830C>T	(Likely) benign	1 lab	599a11ac49
1:182993277 LAMC1 G>A	1	182993277	182993277	G	A	LAMC1	c.418+8G>A	NM_002293.3	NP_002284.3:p.?	NC_000001.10:g.182993277G>A	(Likely) benign	1 lab	599a1e3a48
Y:15591445 UTY T>C	Y	15591445	15591445	T	C	UTY	c.101A>G	NM_001258249.1	NP_001245178.1:p.(Glu34Gly)	NC_000024.9:g.15591445T>C	(Likely) benign	1 lab	599b1955d5
10:13735977 FRMD4A C>T	10	13735977	13735977	C	T	FRMD4A	c.1038G>A	NM_018027.4	NP_060497.3:p.(Thr346=)	NC_000010.10:g.13735977C>T	(Likely) benign	1 lab	599cbbf2e7
2:70442522 TIA1 A>G	2	70442522	70442522	A	G	TIA1	c.449T>C	NM_001351517.1	NP_001338446.1:p.(Met150Thr)	NC_000002.11:g.70442522A>G	VUS	1 lab	599d7e736d
19:56703265 ZSCAN5B C>T	19	56703265	56703265	C	T	ZSCAN5B	c.542G>A	NM_001080456.2	NP_001073925.2:p.(Arg181Gln)	NC_000019.9:g.56703265C>T	(Likely) benign	1 lab	599f71f75d
2:238296810 COL6A3 T>C	2	238296810	238296810	T	C	COL6A3	c.727A>G	NM_004369.3	NP_004360.2:p.(Ile243Val)	NC_000002.11:g.238296810T>C	VUS	1 lab	59a0068887
17:38975172 KRT10 C>T	17	38975172	38975172	C	T	KRT10	c.1615G>A	NM_000421.3	NP_000412.3:p.(Gly539Ser)	NC_000017.10:g.38975172C>T	(Likely) benign	1 lab	59a3be5388
18:12329614 AFG3L2 C>G	18	12329614	12329614	C	G	AFG3L2	c.2344G>C	NM_006796.2	NP_006787.2:p.(Glu782Gln)	NC_000018.9:g.12329614C>G	VUS	1 lab	59a4f00814
16:1032069 SOX8 G>T	16	1032069	1032069	G	T	SOX8	c.147G>T	NM_014587.4	NP_055402.2:p.(Val49=)	NC_000016.9:g.1032069G>T	(Likely) benign	1 lab	59a60533c2
5:176665385 NSD1 G>A	5	176665385	176665385	G	A	NSD1	c.4069G>A	NM_022455.4	NP_071900.2:p.(Ala1357Thr)	NC_000005.9:g.176665385G>A	(Likely) benign	1 lab	59a7259d26
3:75786793 ZNF717 A>C	3	75786793	75786793	A	C	ZNF717	c.1981T>G	NM_001324027.1	NP_001310956.1:p.(Phe661Val)	NC_000003.11:g.75786793A>C	(Likely) benign	1 lab	59a886c849
X:110406157 PAK3 A>G	X	110406157	110406157	A	G	PAK3	c.591A>G	NM_001128168.2	NP_001121640.1:p.(Ala197=)	NC_000023.10:g.110406157A>G	(Likely) benign	1 lab	59a9de7ca8
X:41586304 GPR82 C>A	X	41586304	41586304	C	A	GPR82	c.25C>A	NM_080817.4	NP_543007.1:p.(Gln9Lys)	NC_000023.10:g.41586304C>A	VUS	1 lab	59abe4150a
11:6568850 DNHD1 G>C	11	6568850	6568850	G	C	DNHD1	c.6681G>C	NM_144666.2	NP_653267.2:p.(Leu2227=)	NC_000011.9:g.6568850G>C	(Likely) benign	1 lab	59ad9b2d37
1:7815714 CAMTA1 A>G	1	7815714	7815714	A	G	CAMTA1	c.4975A>G	NM_015215.3	NP_056030.1:p.(Arg1659Gly)	NC_000001.10:g.7815714A>G	VUS	1 lab	59b35c41e1
18:43435554 EPG5 G>A	18	43435554	43435554	G	A	EPG5	c.7541C>T	NM_020964.3	NP_066015.2:p.(Thr2514Ile)	NC_000018.9:g.43435554G>A	VUS	1 lab	59b43a7300
17:42428094 GRN C>T	17	42428094	42428094	C	T	GRN	c.634C>T	NM_002087.2	NP_002078.1:p.(Arg212Trp)	NC_000017.10:g.42428094C>T	VUS	1 lab	59b481fa48
8:100587890 VPS13B C>T	8	100587890	100587890	C	T	VPS13B	c.5029C>T	NM_017890.4	NP_060360.3:p.(Arg1677Trp)	NC_000008.10:g.100587890C>T	VUS	1 lab	59b50cbdef
X:1464327 IL3RA G>A	X	1464327	1464327	G	A	IL3RA	c.183G>A	NM_002183.3	NP_002174.1:p.(Pro61=)	NC_000023.10:g.1464327G>A	VUS	1 lab	59b7e8c294
1:68896803 RPE65 T>C	1	68896803	68896803	T	C	RPE65	c.1395A>G	NM_000329.2	NP_000320.1:p.(Ser465=)	NC_000001.10:g.68896803T>C	(Likely) benign	1 lab	59b81353c8
9:140057359 GRIN1 A>G	9	140057359	140057359	A	G	GRIN1	c.2075A>G	NM_007327.4	NP_015566.1:p.(Tyr692Cys)	NC_000009.11:g.140057359A>G	VUS	1 lab	f267865aea
4:128878732 MFSD8 T>C	4	128878732	128878732	T	C	MFSD8	c.78A>G	NM_152778.2	NP_689991.1:p.(Leu26=)	NC_000004.11:g.128878732T>C	(Likely) benign	1 lab	59b8a8bc78
7:146805406 CNTNAP2 C>T	7	146805406	146805406	C	T	CNTNAP2	c.718C>T	NM_014141.5	NP_054860.1:p.(Leu240=)	NC_000007.13:g.146805406C>T	(Likely) benign	1 lab	59b91f889c
7:35244134 TBX20 G>A	7	35244134	35244134	G	A	TBX20	c.951C>T	NM_001077653.2	NP_001071121.1:p.(Tyr317=)	NC_000007.13:g.35244134G>A	(Likely) benign	1 lab	59b9a55b28
1:1747244 GNB1 G>A	1	1747244	1747244	G	A	GNB1	c.154C>T	NM_002074.4	NP_002065.1:p.(Arg52Trp)	NC_000001.10:g.1747244G>A	(Likely) pathogenic	1 lab	59baa192df
19:23040254 ZNF723 CCTAA>C	19	23040254	23040262	CCTAA	C	ZNF723	c.566_569del	NM_001349726.2	NP_001336655.1:p.(Thr189AsnfsTer9)	NC_000019.9:g.23040259_23040262del	VUS	1 lab	59baa61e04
2:179441403 TTN T>C	2	179441403	179441403	T	C	TTN	c.69568A>G	NM_001267550.1	NP_001254479.1:p.(Ile23190Val)	NC_000002.11:g.179441403T>C	VUS	1 lab	59bab07e6a
4:124011865 AFG2A G>A	4	124011865	124011865	G	A	AFG2A	c.2340+5G>A	NM_145207.2	NP_660208.2:p.?	NC_000004.11:g.124011865G>A	VUS	1 lab	59bb7c3909
19:11348212 DOCK6 C>T	19	11348212	11348212	C	T	DOCK6	c.1993G>A	NM_020812.3	NP_065863.2:p.(Gly665Arg)	NC_000019.9:g.11348212C>T	VUS	1 lab	59bbb9ef4a
16:28841268 ATXN2L A>G	16	28841268	28841268	A	G	ATXN2L	c.923A>G	NM_007245.3	NP_009176.2:p.(Gln308Arg)	NC_000016.9:g.28841268A>G	VUS	1 lab	59bbccb6c8
19:12766516 MAN2B1 C>T	19	12766516	12766516	C	T	MAN2B1	c.1822G>A	NM_000528.3	NP_000519.2:p.(Glu608Lys)	NC_000019.9:g.12766516C>T	(Likely) benign	1 lab	59bbfbb087
16:85701743 GSE1 C>T	16	85701743	85701743	C	T	GSE1	c.3131-3C>T	NM_014615.4	NP_055430.1:p.?	NC_000016.9:g.85701743C>T	(Likely) benign	1 lab	59bca3ff2a
17:29553605 NF1 T>TA	17	29553605	29553606	T	TA	NF1	c.2155dup	NM_000267.3	NP_000258.1:p.(Ile719AsnfsTer7)	NC_000017.10:g.29553606dup	(Likely) pathogenic	1 lab	59bec2ce61
X:70354577 MED12 C>T	X	70354577	70354577	C	T	MED12	c.4742C>T	NM_005120.2	NP_005111.2:p.(Thr1581Ile)	NC_000023.10:g.70354577C>T	VUS	1 lab	59c09ac4e4
X:149671652 MAMLD1 G>A	X	149671652	149671652	G	A	MAMLD1	c.2149G>A	NM_005491.4	NP_005482.2:p.(Gly717Ser)	NC_000023.10:g.149671652G>A	(Likely) benign	1 lab	59c150c2ee
15:85197473 WDR73 G>A	15	85197473	85197473	G	A	WDR73	c.33C>T	NM_032856.3	NP_116245.2:p.(Ser11=)	NC_000015.9:g.85197473G>A	(Likely) benign	1 lab	59c2963727
15:43170727 TTBK2 T>A	15	43170727	43170727	T	A	TTBK2	c.69+20A>T	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43170727T>A	(Likely) benign	1 lab	59c38a9620
17:29679298 NF1 G>A	17	29679298	29679298	G	A	NF1	c.7418G>A	NM_000267.3	NP_000258.1:p.(Trp2473Ter)	NC_000017.10:g.29679298G>A	(Likely) pathogenic	1 lab	59c7352f94
X:153225464 HCFC1 G>A	X	153225464	153225464	G	A	HCFC1	c.1233C>T	NM_005334.2	NP_005325.2:p.(Ser411=)	NC_000023.10:g.153225464G>A	(Likely) benign	1 lab	59c87aed96
11:66460924 SPTBN2 A>G	11	66460924	66460924	A	G	SPTBN2	c.4594-7T>C	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66460924A>G	(Likely) benign	1 lab	59c8940d8d
X:117162388 KLHL13 G>A	X	117162388	117162388	G	A	KLHL13	c.49C>T	NM_001168302.1	NP_001161774.1:p.(Arg17Ter)	NC_000023.10:g.117162388G>A	VUS	1 lab	59c8b8a62c
14:78002223 SPTLC2 G>A	14	78002223	78002223	G	A	SPTLC2	c.1304-14299C>T	NM_004863.4	NP_004854.1:p.?	NC_000014.8:g.78002223G>A	(Likely) benign	1 lab	f26e1211bb
11:298710 IFITM5 G>A	11	298710	298710	G	A	IFITM5	c.190C>T	NM_001025295.2	NP_001020466.1:p.(Arg64Ter)	NC_000011.9:g.298710G>A	VUS	1 lab	59ca48dff4
20:2384321 TGM6 C>T	20	2384321	2384321	C	T	TGM6	c.1188C>T	NM_198994.2	NP_945345.2:p.(Asn396=)	NC_000020.10:g.2384321C>T	(Likely) benign	1 lab	59cb0ed7e5
X:53578308 HUWE1 C>T	X	53578308	53578308	C	T	HUWE1	c.9015G>A	NM_031407.6	NP_113584.3:p.(Ala3005=)	NC_000023.10:g.53578308C>T	(Likely) benign	1 lab	59ccedabe7
2:131976296 POTEE CT>C	2	131976296	131976297	CT	C	POTEE	c.322del	NM_001083538.3	NP_001077007.1:p.(Cys108AlafsTer59)	NC_000002.11:g.131976297del	VUS	1 lab	59ce63a447
X:153043500 PLXNB3 G>A	X	153043500	153043500	G	A	PLXNB3	c.5428G>A	NM_001163257.1	NP_001156729.1:p.(Ala1810Thr)	NC_000023.10:g.153043500G>A	VUS	1 lab	59d577d7c1
X:153690570 PLXNA3 G>A	X	153690570	153690570	G	A	PLXNA3	c.1237G>A	NM_017514.4	NP_059984.3:p.(Gly413Ser)	NC_000023.10:g.153690570G>A	(Likely) benign	1 lab	59d5f429e3
5:52340880 ITGA2 C>T	5	52340880	52340880	C	T	ITGA2	c.345C>T	NM_002203.3	NP_002194.2:p.(Leu115=)	NC_000005.9:g.52340880C>T	(Likely) benign	1 lab	59d75187dd
1:34092131 CSMD2 C>T	1	34092131	34092131	C	T	CSMD2	c.5251G>A	NM_001281956.1	NP_001268885.1:p.(Ala1751Thr)	NC_000001.10:g.34092131C>T	VUS	1 lab	59d7cd6ae6
17:76109263 TMC6 G>A	17	76109263	76109263	G	A	TMC6	c.2384C>T	NM_001127198.2	NP_001120670.1:p.(Pro795Leu)	NC_000017.10:g.76109263G>A	(Likely) benign	1 lab	59d7f1ca3a
9:130581004 ENG G>A	9	130581004	130581004	G	A	ENG	c.1419C>T	NM_000118.3	NP_000109.1:p.(Ser473=)	NC_000009.11:g.130581004G>A	(Likely) benign	1 lab	59d95d8597
X:77301894 ATP7A T>A	X	77301894	77301894	T	A	ATP7A	c.4330T>A	NM_000052.6	NP_000043.4:p.(Ser1444Thr)	NC_000023.10:g.77301894T>A	(Likely) benign	1 lab	59d98be046
10:73539159 CDH23 C>T	10	73539159	73539159	C	T	CDH23	c.5323C>T	NM_022124.5	NP_071407.4:p.(Pro1775Ser)	NC_000010.10:g.73539159C>T	VUS	1 lab	59da35119f
18:55233702 FECH G>A	18	55233702	55233702	G	A	FECH				NC_000018.9:g.55233702G>A	VUS	1 lab	59da49b6d8
21:38884757 DYRK1A A>G	21	38884757	38884757	A	G	DYRK1A	c.2188A>G	NM_001347721.2	NP_001334650.1:p.(Met730Val)	NC_000021.8:g.38884757A>G	(Likely) benign	1 lab	59da8907cf
X:112065919 AMOT G>C	X	112065919	112065919	G	C	AMOT	c.436C>G	NM_001113490.1	NP_001106962.1:p.(Arg146Gly)	NC_000023.10:g.112065919G>C	(Likely) benign	1 lab	59dacb1ad3
14:64587777 SYNE2 C>G	14	64587777	64587777	C	G	SYNE2	c.13156C>G	NM_182914.2	NP_878918.2:p.(Gln4386Glu)	NC_000014.8:g.64587777C>G	(Likely) benign	1 lab	59dc9300a8
3:195508021 MUC4 C>A	3	195508021	195508021	C	A	MUC4	c.10430G>T	NM_018406.6	NP_060876.5:p.(Ser3477Ile)	NC_000003.11:g.195508021C>A	(Likely) benign	1 lab	59de2f0887
11:46726784 ZNF408 C>T	11	46726784	46726784	C	T	ZNF408	c.1534C>T	NM_024741.2	NP_079017.1:p.(Arg512Cys)	NC_000011.9:g.46726784C>T	VUS	1 lab	59dfb8ae82
19:18995086 CERS1 G>A	19	18995086	18995086	G	A	CERS1	c.410-10C>T	NM_021267.4	NP_067090.1:p.?	NC_000019.9:g.18995086G>A	(Likely) benign	1 lab	59dfd34116
10:96351996 HELLS A>C	10	96351996	96351996	A	C	HELLS	c.1916A>C	NM_001289067.1	NP_001275996.1:p.(Glu639Ala)	NC_000010.10:g.96351996A>C	(Likely) benign	1 lab	59e0758f38
1:218607759 TGFB2 T>C	1	218607759	218607759	T	C	TGFB2	c.807T>C	NM_001135599.3	NP_001129071.1:p.(Asn269=)	NC_000001.10:g.218607759T>C	(Likely) benign	1 lab	59e444baac
4:151935743 LRBA C>T	4	151935743	151935743	C	T	LRBA	c.52G>A	NM_001199282.2	NP_001186211.2:p.(Gly18Arg)	NC_000004.11:g.151935743C>T	(Likely) benign	1 lab	59e56c10b6
9:32466432 RIGI T>C	9	32466432	32466432	T	C	RIGI	c.2193A>G	NM_014314.3	NP_055129.2:p.(Gly731=)	NC_000009.11:g.32466432T>C	(Likely) benign	1 lab	59e6a9a29b
7:116339803 MET C>T	7	116339803	116339803	C	T	MET	c.665C>T	NM_001127500.3	NP_001120972.1:p.(Thr222Met)	NC_000007.13:g.116339803C>T	VUS	1 lab	f2743c8516
2:209190430 PIKFYVE G>A	2	209190430	209190430	G	A	PIKFYVE	c.2895G>A	NM_015040.3	NP_055855.2:p.(Ala965=)	NC_000002.11:g.209190430G>A	(Likely) benign	1 lab	59e8ccca28
17:79496049 FSCN2 C>T	17	79496049	79496049	C	T	FSCN2	c.492C>T	NM_001077182.2	NP_001070650.1:p.(Asp164=)	NC_000017.10:g.79496049C>T	(Likely) benign	1 lab	59e9852631
2:179446349 TTN G>A	2	179446349	179446349	G	A	TTN	c.66646C>T	NM_001267550.1	NP_001254479.1:p.(Arg22216Cys)	NC_000002.11:g.179446349G>A	VUS	1 lab	59e9decdcf
3:142272572 ATR A>C	3	142272572	142272572	A	C	ATR	c.2543T>G	NM_001184.3	NP_001175.2:p.(Leu848Ter)	NC_000003.11:g.142272572A>C	(Likely) pathogenic	1 lab	59ea97f683
14:105414233 AHNAK2 G>A	14	105414233	105414233	G	A	AHNAK2	c.7555C>T	NM_138420.3	NP_612429.2:p.(Leu2519Phe)	NC_000014.8:g.105414233G>A	VUS	1 lab	59eaa89b93
1:17958832 ARHGEF10L A>G	1	17958832	17958832	A	G	ARHGEF10L	c.1601A>G	NM_018125.3	NP_060595.3:p.(Gln534Arg)	NC_000001.10:g.17958832A>G	VUS	1 lab	59eaaf0e5a
1:43896737 SZT2 C>T	1	43896737	43896737	C	T	SZT2	c.4721C>T	NM_015284.3	NP_056099.3:p.(Thr1574Met)	NC_000001.10:g.43896737C>T	VUS	1 lab	59ed8cbcfa
7:50468073 IKZF1 C>A	7	50468073	50468073	C	A	IKZF1	c.1308C>A	NM_006060.6	NP_006051.1:p.(Asp436Glu)	NC_000007.13:g.50468073C>A	(Likely) benign	1 lab	59ee3f00b2
7:105190917 RINT1 G>C	7	105190917	105190917	G	C	RINT1	c.1317G>C	NM_021930.5	NP_068749.3:p.(Leu439Phe)	NC_000007.13:g.105190917G>C	VUS	1 lab	59ee763407
15:89873445 POLG G>A	15	89873445	89873445	G	A	POLG	c.722C>T	NM_002693.3	NP_002684.1:p.(Pro241Leu)	NC_000015.9:g.89873445G>A	(Likely) benign	1 lab	f275ce04af
19:2216658 DOT1L G>C	19	2216658	2216658	G	C	DOT1L	c.2302G>C	NM_032482.2	NP_115871.1:p.(Ala768Pro)	NC_000019.9:g.2216658G>C	(Likely) benign	1 lab	59eefe21ec
19:17953335 JAK3 C>T	19	17953335	17953335	C	T	JAK3	c.651G>A	NM_000215.3	NP_000206.2:p.(Val217=)	NC_000019.9:g.17953335C>T	VUS	1 lab	59ef681197
10:112572394 RBM20 C>T	10	112572394	112572394	C	T	RBM20	c.2239C>T	NM_001134363.1	NP_001127835.1:p.(His747Tyr)	NC_000010.10:g.112572394C>T	VUS	1 lab	59f2391b3e
1:12389982 VPS13D A>G	1	12389982	12389982	A	G	VPS13D	c.8287+7A>G	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12389982A>G	(Likely) benign	1 lab	59f4163e70
9:79971749 VPS13A A>T	9	79971749	79971749	A	T	VPS13A	c.7772A>T	NM_033305.2	NP_150648.2:p.(Glu2591Val)	NC_000009.11:g.79971749A>T	VUS	1 lab	59f47a86fe
13:102527534 FGF14 A>G	13	102527534	102527534	A	G	FGF14	c.319+2T>C	NM_175929.2	NP_787125.1:p.?	NC_000013.10:g.102527534A>G	(Likely) pathogenic	1 lab	59f5284cd3
17:12656026 MYOCD C>T	17	12656026	12656026	C	T	MYOCD	c.1421C>T	NM_001146312.2	NP_001139784.1:p.(Thr474Ile)	NC_000017.10:g.12656026C>T	VUS	1 lab	59f5e4a60d
9:35740081 GBA2 T>A	9	35740081	35740081	T	A	GBA2	c.1323A>T	NM_020944.2	NP_065995.1:p.(Ala441=)	NC_000009.11:g.35740081T>A	(Likely) benign	1 lab	59f5e5b101
12:80699397 OTOGL T>C	12	80699397	80699397	T	C	OTOGL	c.3228T>C	NM_173591.3	NP_775862.3:p.(Thr1076=)	NC_000012.11:g.80699397T>C	(Likely) benign	1 lab	59f660cd8b
10:29769705 SVIL G>A	10	29769705	29769705	G	A	SVIL	c.5138C>T	NM_021738.2	NP_068506.2:p.(Thr1713Ile)	NC_000010.10:g.29769705G>A	(Likely) benign	1 lab	59f84245df
21:46925823 COL18A1 C>G	21	46925823	46925823	C	G	COL18A1	c.3150C>G	NM_130445.2	NP_569712.2:p.(Phe1050Leu)	NC_000021.8:g.46925823C>G	VUS	1 lab	59fb631bc2
9:117228647 WHRN C>T	9	117228647	117228647	C	T	WHRN	c.863G>A	NM_015404.3	NP_056219.3:p.(Arg288Gln)	NC_000009.11:g.117228647C>T	VUS	1 lab	59fcb1a7e8
1:152284305 FLG C>T	1	152284305	152284305	C	T	FLG	c.3057G>A	NM_002016.1	NP_002007.1:p.(Ala1019=)	NC_000001.10:g.152284305C>T	(Likely) benign	1 lab	59fdf0b977
19:45525421 RELB C>T	19	45525421	45525421	C	T	RELB	c.615C>T	NM_006509.4	NP_006500.2:p.(Asp205=)	NC_000019.9:g.45525421C>T	(Likely) benign	1 lab	5a00bb1005
5:138651379 MATR3 T>C	5	138651379	138651379	T	C	MATR3	c.975-7T>C	NM_199189.2	NP_954659.1:p.?	NC_000005.9:g.138651379T>C	(Likely) benign	1 lab	5a02739858
7:21582917 DNAH11 C>T	7	21582917	21582917	C	T	DNAH11				NC_000007.13:g.21582917C>T	(Likely) benign	1 lab	5a03845ef3
5:70754396 BDP1 A>T	5	70754396	70754396	A	T	BDP1	c.213-10A>T	NM_018429.2	NP_060899.2:p.?	NC_000005.9:g.70754396A>T	(Likely) benign	1 lab	5a08e6b913
1:6500698 ESPN G>A	1	6500698	6500698	G	A	ESPN	c.688G>A	NM_031475.3	NP_113663.2:p.(Asp230Asn)	NC_000001.10:g.6500698G>A	VUS	1 lab	5a0ae4343a
X:129206366 ELF4 A>T	X	129206366	129206366	A	T	ELF4	c.367T>A	NM_001421.3	NP_001412.1:p.(Ser123Thr)	NC_000023.10:g.129206366A>T	(Likely) benign	1 lab	5a0b235ecd
17:76115094 TMC6 G>A	17	76115094	76115094	G	A	TMC6	c.1845C>T	NM_001127198.2	NP_001120670.1:p.(Ala615=)	NC_000017.10:g.76115094G>A	(Likely) benign	1 lab	5a0ca82e0c
18:56149048 ALPK2 A>G	18	56149048	56149048	A	G	ALPK2	c.*7T>C	NM_052947.4	NP_443179.3:p.?	NC_000018.9:g.56149048A>G	(Likely) benign	1 lab	5e1ac4c610
19:7702050 STXBP2 G>A	19	7702050	7702050	G	A	STXBP2	c.15G>A	NM_001272034.1	NP_001258963.1:p.(Gly5=)	NC_000019.9:g.7702050G>A	(Likely) benign	1 lab	5a0d1d4d23
12:40643656 LRRK2 C>T	12	40643656	40643656	C	T	LRRK2	c.867C>T	NM_198578.3	NP_940980.3:p.(Asn289=)	NC_000012.11:g.40643656C>T	(Likely) benign	1 lab	5a0d465b2f
2:44187745 LRPPRC A>G	2	44187745	44187745	A	G	LRPPRC	c.1517T>C	NM_133259.3	NP_573566.2:p.(Met506Thr)	NC_000002.11:g.44187745A>G	(Likely) benign	1 lab	5a0d9a135b
14:39722089 MIA2 T>C	14	39722089	39722089	T	C	MIA2	c.1705T>C	NM_001329214.2	NP_001316143.1:p.(Ser569Pro)	NC_000014.8:g.39722089T>C	VUS	1 lab	5a0db78d16
6:38704952 DNAH8 C>T	6	38704952	38704952	C	T	DNAH8	c.872C>T	NM_001206927.1	NP_001193856.1:p.(Ala291Val)	NC_000006.11:g.38704952C>T	VUS	1 lab	5a0e7db0e7
16:3786721 CREBBP T>G	16	3786721	3786721	T	G	CREBBP	c.4490A>C	NM_004380.2	NP_004371.2:p.(Lys1497Thr)	NC_000016.9:g.3786721T>G	VUS	1 lab	5a0f1a37f6
2:179587455 TTN C>T	2	179587455	179587455	C	T	TTN	c.22171G>A	NM_001267550.2	NP_001254479.2:p.(Gly7391Arg)	NC_000002.11:g.179587455C>T	VUS	1 lab	f277d268bd
19:40762860 AKT2 G>T	19	40762860	40762860	G	T	AKT2	c.148C>A	NM_001626.5	NP_001617.1:p.(Pro50Thr)	NC_000019.9:g.40762860G>T	(Likely) benign	1 lab	5a10cdaf5b
X:37668923 CYBB C>T	X	37668923	37668923	C	T	CYBB	c.1565C>T	NM_000397.3	NP_000388.2:p.(Thr522Ile)	NC_000023.10:g.37668923C>T	VUS	1 lab	5a113fdd9f
X:63557167 MTMR8 C>T	X	63557167	63557167	C	T	MTMR8	c.1082G>A	NM_017677.3	NP_060147.2:p.(Arg361Lys)	NC_000023.10:g.63557167C>T	VUS	1 lab	5a1173d052
6:51882398 PKHD1 G>A	6	51882398	51882398	G	A	PKHD1	c.5410C>T	NM_138694.3	NP_619639.3:p.(Arg1804Cys)	NC_000006.11:g.51882398G>A	VUS	1 lab	5a12627980
13:49047497 RB1 A>G	13	49047497	49047497	A	G	RB1	c.2491A>G	NM_000321.2	NP_000312.2:p.(Ile831Val)	NC_000013.10:g.49047497A>G	VUS	1 lab	5a12fe2f98
7:107335080 SLC26A4 T>C	7	107335080	107335080	T	C	SLC26A4	c.1356T>C	NM_000441.1	NP_000432.1:p.(Ala452=)	NC_000007.13:g.107335080T>C	(Likely) benign	1 lab	5a14789cd1
22:38131399 TRIOBP C>T	22	38131399	38131399	C	T	TRIOBP	c.5056C>T	NM_001039141.2	NP_001034230.1:p.(Pro1686Ser)	NC_000022.10:g.38131399C>T	(Likely) benign	1 lab	5a14a3491d
8:145738591 RECQL4 G>A	8	145738591	145738591	G	A	RECQL4	c.2463+10C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738591G>A	(Likely) benign	1 lab	5a14f7fd43
20:34053571 CEP250 C>T	20	34053571	34053571	C	T	CEP250	c.247C>T	NM_007186.5	NP_009117.2:p.(Pro83Ser)	NC_000020.10:g.34053571C>T	VUS	1 lab	5a1528b26f
8:101237550 SPAG1 G>A	8	101237550	101237550	G	A	SPAG1	c.1838G>A	NM_003114.4	NP_003105.2:p.(Arg613His)	NC_000008.10:g.101237550G>A	(Likely) benign	1 lab	5a1734a87f
10:118306917 PNLIP C>T	10	118306917	118306917	C	T	PNLIP	c.158C>T	NM_000936.3	NP_000927.1:p.(Thr53Ile)	NC_000010.10:g.118306917C>T	VUS	1 lab	5a1850cf7f
20:2840432 VPS16 G>A	20	2840432	2840432	G	A	VPS16	c.121G>A	NM_022575.4	NP_072097.2:p.(Ala41Thr)	NC_000020.10:g.2840432G>A	VUS	1 lab	f27b395ab8
16:2122250 TSC2 C>CT	16	2122250	2122251	C	CT	TSC2	c.2107dup	NM_000548.3	NP_000539.2:p.(Trp703LeufsTer13)	NC_000016.9:g.2122251dup	(Likely) pathogenic	1 lab	5a1b92dad9
17:38976789 KRT10 C>T	17	38976789	38976789	C	T	KRT10	c.841G>A	NM_000421.3	NP_000412.3:p.(Ala281Thr)	NC_000017.10:g.38976789C>T	VUS	1 lab	5a1c002f70
X:107938071 COL4A5 G>T	X	107938071	107938071	G	T	COL4A5	c.4741G>T	NM_033380.2	NP_203699.1:p.(Ala1581Ser)	NC_000023.10:g.107938071G>T	(Likely) benign	1 lab	5a1c40b9ce
19:11353994 DOCK6 G>A	19	11353994	11353994	G	A	DOCK6	c.1326C>T	NM_020812.3	NP_065863.2:p.(Asp442=)	NC_000019.9:g.11353994G>A	(Likely) benign	1 lab	5a1c6f62bc
2:73717253 ALMS1 T>G	2	73717253	73717253	T	G	ALMS1	c.8170T>G	NM_015120.4	NP_055935.4:p.(Ser2724Ala)	NC_000002.11:g.73717253T>G	(Likely) benign	1 lab	5a1dccfb7b
13:20716342 GJA3 G>T	13	20716342	20716342	G	T	GJA3	c.1086C>A	NM_021954.3	NP_068773.2:p.(Leu362=)	NC_000013.10:g.20716342G>T	(Likely) benign	1 lab	5a1e4c7fdb
3:47164141 SETD2 TG>T	3	47164141	47164142	TG	T	SETD2	c.1984del	NM_014159.7	NP_054878.5:p.(Gln662AsnfsTer2)	NC_000003.11:g.47164142del	(Likely) pathogenic	1 lab	5a1e62ee21
3:121305321 ARGFX A>G	3	121305321	121305321	A	G	ARGFX	c.822A>G	NM_001012659.1	NP_001012677.1:p.(Pro274=)	NC_000003.11:g.121305321A>G	(Likely) benign	1 lab	5a1e820b45
X:74273427 ABCB7 AG>A	X	74273427	74273428	AG	A	ABCB7	c.2044-8del	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74273428del	(Likely) benign	1 lab	5a20fbd632
1:160098840 ATP1A2 C>T	1	160098840	160098840	C	T	ATP1A2				NC_000001.10:g.160098840C>T	(Likely) benign	1 lab	5a21725627
16:78466428 WWOX C>T	16	78466428	78466428	C	T	WWOX	c.835C>T	NM_016373.3	NP_057457.1:p.(Arg279Cys)	NC_000016.9:g.78466428C>T	(Likely) benign	1 lab	5a21a6327d
19:45916830 ERCC1 G>C	19	45916830	45916830	G	C	ERCC1	c.948C>G	NM_202001.2	NP_973730.1:p.(Thr316=)	NC_000019.9:g.45916830G>C	(Likely) benign	1 lab	5a2496d15a
1:146465888 MISSING G>C	1	146465888	146465888	G	C	MISSING				NC_000001.10:g.146465888G>C	(Likely) benign	1 lab	5a26e1b141
5:137226177 PKD2L2 G>A	5	137226177	137226177	G	A	PKD2L2	c.39G>A	NM_001258449.1	NP_001245378.1:p.(Ser13=)	NC_000005.9:g.137226177G>A	(Likely) benign	1 lab	5a28e8a90b
X:138880505 ATP11C C>T	X	138880505	138880505	C	T	ATP11C	c.793G>A	NM_001010986.3	NP_001010986.2:p.(Val265Ile)	NC_000023.10:g.138880505C>T	VUS	1 lab	f27db053e9
7:82584314 PCLO C>T	7	82584314	82584314	C	T	PCLO	c.5955G>A	NM_033026.5	NP_149015.2:p.(Gln1985=)	NC_000007.13:g.82584314C>T	(Likely) benign	1 lab	5a2b0654d8
6:65301807 EYS GGT>G	6	65301807	65301812	GGT	G	EYS	c.3951_3952del	NM_001142800.2	NP_001136272.1:p.(Pro1318LeufsTer13)	NC_000006.11:g.65301811_65301812del	(Likely) pathogenic	1 lab	5a2c363de6
7:44105095 PGAM2 C>T	7	44105095	44105095	C	T	PGAM2	c.34G>A	NM_000290.3	NP_000281.2:p.(Gly12Ser)	NC_000007.13:g.44105095C>T	VUS	1 lab	5a2c4f58f1
9:135206650 SETX T>G	9	135206650	135206650	T	G	SETX	c.1010+14A>C	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135206650T>G	(Likely) benign	1 lab	5a2c6faa37
15:101567555 LRRK1 C>T	15	101567555	101567555	C	T	LRRK1	c.2495C>T	NM_024652.5	NP_078928.3:p.(Thr832Ile)	NC_000015.9:g.101567555C>T	(Likely) benign	1 lab	5a2c9e6098
X:84363588 SATL1 C>G	X	84363588	84363588	C	G	SATL1	c.387G>C	NM_001012980.2	NP_001012998.2:p.(Thr129=)	NC_000023.10:g.84363588C>G	(Likely) benign	1 lab	5a2d5404e1
17:29170962 ATAD5 C>T	17	29170962	29170962	C	T	ATAD5	c.2273C>T	NM_024857.5	NP_079133.3:p.(Thr758Ile)	NC_000017.10:g.29170962C>T	VUS	1 lab	5a2f463012
X:24382791 SUPT20HL1 C>T	X	24382791	24382791	C	T	SUPT20HL1	c.1992C>T	NM_001136234.2	NP_001129706.2:p.(Pro664=)	NC_000023.10:g.24382791C>T	(Likely) benign	1 lab	5a30e8eca5
11:19914034 NAV2 C>T	11	19914034	19914034	C	T	NAV2	c.894C>T	NM_001244963.1	NP_001231892.1:p.(Arg298=)	NC_000011.9:g.19914034C>T	(Likely) benign	1 lab	5a32955f11
1:40557714 PPT1 T>C	1	40557714	40557714	T	C	PPT1	c.362+3A>G	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40557714T>C	(Likely) benign	1 lab	5a32c1183a
1:216166444 USH2A G>A	1	216166444	216166444	G	A	USH2A	c.6723C>T	NM_206933.2	NP_996816.2:p.(Pro2241=)	NC_000001.10:g.216166444G>A	(Likely) benign	1 lab	5a32ceb9e3
9:14851304 FREM1 T>G	9	14851304	14851304	T	G	FREM1	c.1130A>C	NM_144966.5	NP_659403.4:p.(His377Pro)	NC_000009.11:g.14851304T>G	VUS	1 lab	5a35a516a7
22:19868218 TXNRD2 A>G	22	19868218	19868218	A	G	TXNRD2	c.1109T>C	NM_006440.5	NP_006431.2:p.(Ile370Thr)	NC_000022.10:g.19868218A>G	(Likely) benign	1 lab	f27fe76565
X:91132649 PCDH11X C>T	X	91132649	91132649	C	T	PCDH11X	c.1410C>T	NM_032968.4	NP_116750.1:p.(Phe470=)	NC_000023.10:g.91132649C>T	(Likely) benign	1 lab	5a3a225f84
21:36081712 CLIC6 C>T	21	36081712	36081712	C	T	CLIC6	c.1829C>T	NM_001317009.1	NP_001303938.1:p.(Pro610Leu)	NC_000021.8:g.36081712C>T	VUS	1 lab	5a3b8d1662
1:161140563 PPOX A>G	1	161140563	161140563	A	G	PPOX	c.762+4A>G	NM_001350130.1	NP_001337059.1:p.?	NC_000001.10:g.161140563A>G	VUS	1 lab	5a3eb18c25
8:145739609 RECQL4 G>A	8	145739609	145739609	G	A	RECQL4	c.1842C>T	NM_004260.3	NP_004251.3:p.(Ser614=)	NC_000008.10:g.145739609G>A	(Likely) benign	1 lab	5a3ef47bb3
1:46661685 POMGNT1 G>A	1	46661685	46661685	G	A	POMGNT1	c.419C>T	NM_017739.3	NP_060209.3:p.(Thr140Met)	NC_000001.10:g.46661685G>A	VUS	1 lab	5a3f127f45
10:81609752 NUTM2E C>T	10	81609752	81609752	C	T	NUTM2E	c.2027C>T	NM_001355263.1	NP_001342192.1:p.(Thr676Met)	NC_000010.10:g.81609752C>T	(Likely) benign	1 lab	5a3f3237f7
10:18270393 SLC39A12 G>T	10	18270393	18270393	G	T	SLC39A12	c.1077G>T	NM_001282733.1	NP_001269662.1:p.(Leu359=)	NC_000010.10:g.18270393G>T	(Likely) benign	1 lab	5a414fa9a7
3:10183635 VHL C>A	3	10183635	10183635	C	A	VHL	c.104C>A	NM_000551.3	NP_000542.1:p.(Ala35Asp)	NC_000003.11:g.10183635C>A	VUS	1 lab	5a417f71cf
1:186281392 PRG4 T>C	1	186281392	186281392	T	C	PRG4	c.3879T>C	NM_005807.4	NP_005798.3:p.(Tyr1293=)	NC_000001.10:g.186281392T>C	(Likely) benign	1 lab	5a420e1ce8
10:27389389 ANKRD26 C>T	10	27389389	27389389	C	T	ANKRD26	c.-134G>A	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27389389C>T	(Likely) pathogenic	1 lab	5a42a0012f
2:32288994 SPAST GC>G	2	32288994	32288998	GC	G	SPAST	c.98del	NM_014946.4	NP_055761.2:p.(Pro33LeufsTer27)	NC_000002.11:g.32288998del	(Likely) pathogenic	1 lab	5a443155f1
9:120475308 TLR4 T>C	9	120475308	120475308	T	C	TLR4	c.782T>C	NM_003266.3	NP_003257.1:p.(Ile261Thr)	NC_000009.11:g.120475308T>C	(Likely) benign	1 lab	5a447a17e6
20:391167 RBCK1 G>A	20	391167	391167	G	A	RBCK1	c.279G>A	NM_001323960.1	NP_001310889.1:p.(Leu93=)	NC_000020.10:g.391167G>A	(Likely) benign	1 lab	5a448816b3
14:101349865 RTL1 G>A	14	101349865	101349865	G	A	RTL1	c.1261C>T	NM_001134888.2	NP_001128360.1:p.(His421Tyr)	NC_000014.8:g.101349865G>A	VUS	1 lab	5a44b2e066
2:241680764 KIF1A C>T	2	241680764	241680764	C	T	KIF1A	c.3671G>A	NM_001244008.1	NP_001230937.1:p.(Arg1224Gln)	NC_000002.11:g.241680764C>T	(Likely) benign	1 lab	5a484b52e1
20:14306272 FLRT3 G>C	20	14306272	14306272	G	C	FLRT3	c.1881C>G	NM_198391.2	NP_938205.1:p.(His627Gln)	NC_000020.10:g.14306272G>C	VUS	1 lab	5a485b8897
16:81819708 PLCG2 C>G	16	81819708	81819708	C	G	PLCG2	c.114C>G	NM_002661.3	NP_002652.2:p.(Pro38=)	NC_000016.9:g.81819708C>G	(Likely) benign	1 lab	5a4a007fea
9:123169355 CDK5RAP2 C>G	9	123169355	123169355	C	G	CDK5RAP2	c.4898G>C	NM_018249.5	NP_060719.4:p.(Gly1633Ala)	NC_000009.11:g.123169355C>G	(Likely) benign	1 lab	5a4a1ed1dd
6:7583574 DSP G>A	6	7583574	7583574	G	A	DSP	c.6079G>A	NM_004415.2	NP_004406.2:p.(Glu2027Lys)	NC_000006.11:g.7583574G>A	(Likely) benign	1 lab	5a4c059ae3
17:42987963 GFAP C>G	17	42987963	42987963	C	G	GFAP	c.1191G>C	NM_001242376.1	NP_001229305.1:p.(Ser397=)	NC_000017.10:g.42987963C>G	(Likely) benign	1 lab	5a4cb28265
1:220356096 RAB3GAP2 T>C	1	220356096	220356096	T	C	RAB3GAP2	c.2176A>G	NM_012414.3	NP_036546.2:p.(Ile726Val)	NC_000001.10:g.220356096T>C	VUS	1 lab	5a4cc231a2
2:170127380 LRP2 TAC>T	2	170127380	170127401	TAC	T	LRP2	c.2320+32_2320+33del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170127400_170127401del	(Likely) benign	1 lab	f280352a1d
9:139369036 SEC16A G>A	9	139369036	139369036	G	A	SEC16A	c.3032C>T	NM_014866.1	NP_055681.1:p.(Pro1011Leu)	NC_000009.11:g.139369036G>A	VUS	1 lab	5a50d3b6ad
9:138662938 KCNT1 A>G	9	138662938	138662938	A	G	KCNT1	c.2005A>G	NM_020822.2	NP_065873.2:p.(Met669Val)	NC_000009.11:g.138662938A>G	(Likely) benign	1 lab	5a512107b9
1:12408891 VPS13D C>A	1	12408891	12408891	C	A	VPS13D	c.9081C>A	NM_015378.4	NP_056193.2:p.(Leu3027=)	NC_000001.10:g.12408891C>A	(Likely) benign	1 lab	5a525648e2
X:153689680 PLXNA3 C>G	X	153689680	153689680	C	G	PLXNA3	c.836C>G	NM_017514.4	NP_059984.3:p.(Pro279Arg)	NC_000023.10:g.153689680C>G	VUS	1 lab	5a5347dfa1
1:203767429 ZBED6 C>T	1	203767429	203767429	C	T	ZBED6	c.779C>T	NM_001174108.2	NP_001167579.1:p.(Pro260Leu)	NC_000001.10:g.203767429C>T	VUS	1 lab	5a53a31790
17:76482527 DNAH17 G>T	17	76482527	76482527	G	T	DNAH17	c.6880C>A	NM_173628.3	NP_775899.3:p.(Leu2294Ile)	NC_000017.10:g.76482527G>T	VUS	1 lab	5a57413e9e
4:39460797 LIAS G>A	4	39460797	39460797	G	A	LIAS	c.45+15G>A	NM_006859.4	NP_006850.2:p.?	NC_000004.11:g.39460797G>A	(Likely) benign	1 lab	f2816cbff6
3:111775919 TMPRSS7 AAT>A	3	111775919	111775922	AAT	A	TMPRSS7	c.1253_1254del	NM_001395507.1	NP_001382436.1:p.(Ile418AsnfsTer9)	NC_000003.11:g.111775921_111775922del	VUS	1 lab	5a583ac6a8
22:36688175 MYH9 G>A	22	36688175	36688175	G	A	MYH9	c.4201C>T	NM_002473.5	NP_002464.1:p.(His1401Tyr)	NC_000022.10:g.36688175G>A	VUS	1 lab	5a59262cfb
1:27153326 ZDHHC18 C>A	1	27153326	27153326	C	A	ZDHHC18	c.31C>A	NM_032283.3	NP_115659.1:p.(Pro11Thr)	NC_000001.10:g.27153326C>A	VUS	1 lab	5a5947e1a6
4:183522108 TENM3 C>G	4	183522108	183522108	C	G	TENM3	c.543C>G	NM_001080477.3	NP_001073946.1:p.(Thr181=)	NC_000004.11:g.183522108C>G	(Likely) benign	1 lab	5a59fbc4b2
7:5568776 ACTB G>A	7	5568776	5568776	G	A	ACTB	c.363+16C>T	NM_001101.3	NP_001092.1:p.?	NC_000007.13:g.5568776G>A	(Likely) benign	1 lab	5a5b673733
9:35560740 RUSC2 C>T	9	35560740	35560740	C	T	RUSC2	c.4103C>T	NM_001135999.1	NP_001129471.1:p.(Ser1368Leu)	NC_000009.11:g.35560740C>T	(Likely) benign	1 lab	5a5b9f98a6
16:11001562 CIITA CATTGACCCCAAGGAAGAAG>C	16	11001562	11001582	CATTGACCCCAAGGAAGAAG	C	CIITA	c.2215_2233del	NM_000246.4	NP_000237.2:p.(Leu739GlyfsTer17)	NC_000016.9:g.11001564_11001582del	(Likely) pathogenic	1 lab	5a5e186af0
14:23855223 MYH6 C>T	14	23855223	23855223	C	T	MYH6	c.5077G>A	NM_002471.3	NP_002462.2:p.(Val1693Met)	NC_000014.8:g.23855223C>T	(Likely) benign	1 lab	5a5e56fa17
7:74191691 NCF1 C>T	7	74191691	74191691	C	T	NCF1	c.151C>T	NM_000265.5	NP_000256.4:p.(His51Tyr)	NC_000007.13:g.74191691C>T	VUS	1 lab	5a5eaf3a91
1:152282956 FLG C>T	1	152282956	152282956	C	T	FLG	c.4406G>A	NM_002016.1	NP_002007.1:p.(Arg1469His)	NC_000001.10:g.152282956C>T	(Likely) benign	1 lab	5a5f2fcfec
1:201332476 TNNT2 C>T	1	201332476	201332476	C	T	TNNT2	c.518G>A	NM_001001430.3	NP_001001430.1:p.(Arg173Gln)	NC_000001.10:g.201332476C>T	(Likely) pathogenic	1 lab	f28c522ca9
7:27141969 HOXA2 G>C	7	27141969	27141969	G	C	HOXA2	c.151C>G	NM_006735.3	NP_006726.1:p.(Pro51Ala)	NC_000007.13:g.27141969G>C	VUS	1 lab	5a60523536
11:92534665 FAT3 T>C	11	92534665	92534665	T	C	FAT3	c.8486T>C	NM_001008781.2	NP_001008781.2:p.(Val2829Ala)	NC_000011.9:g.92534665T>C	(Likely) benign	1 lab	5a60f26c45
5:90144489 ADGRV1 T>G	5	90144489	90144489	T	G	ADGRV1	c.17055T>G	NM_032119.4	NP_115495.3:p.(Val5685=)	NC_000005.9:g.90144489T>G	(Likely) benign	1 lab	5a61a5a740
22:21068778 PI4KA T>C	22	21068778	21068778	T	C	PI4KA	c.5429A>G	NM_058004.3	NP_477352.3:p.(Lys1810Arg)	NC_000022.10:g.21068778T>C	(Likely) benign	1 lab	5a630e48d5
11:78279739 NARS2 T>C	11	78279739	78279739	T	C	NARS2	c.311A>G	NM_024678.6	NP_078954.4:p.(Lys104Arg)	NC_000011.9:g.78279739T>C	(Likely) benign	1 lab	5a6486b119
14:77493647 IRF2BPL A>G	14	77493647	77493647	A	G	IRF2BPL	c.489T>C	NM_024496.4	NP_078772.1:p.(Ala163=)	NC_000014.8:g.77493647A>G	(Likely) benign	1 lab	5a65155a5f
7:42018218 GLI3 C>T	7	42018218	42018218	C	T	GLI3	c.1627G>A	NM_000168.5	NP_000159.3:p.(Glu543Lys)	NC_000007.13:g.42018218C>T	VUS	1 lab	5a65bb6c0e
2:179449030 TTN C>T	2	179449030	179449030	C	T	TTN	c.65248G>A	NM_001267550.2	NP_001254479.2:p.(Glu21750Lys)	NC_000002.11:g.179449030C>T	VUS	1 lab	f292ed62e0
9:79816265 VPS13A T>G	9	79816265	79816265	T	G	VPS13A	c.145-16T>G	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79816265T>G	VUS	1 lab	5a6857344c
5:150723764 SLC36A2 G>T	5	150723764	150723764	G	T	SLC36A2	c.229C>A	NM_181776.2	NP_861441.2:p.(Leu77Ile)	NC_000005.9:g.150723764G>T	VUS	1 lab	5a69f68a26
13:103704998 SLC10A2 CA>C	13	103704998	103704999	CA	C	SLC10A2	c.556del	NM_000452.3	NP_000443.2:p.(Trp186GlyfsTer23)	NC_000013.10:g.103704999del	(Likely) pathogenic	1 lab	5a6bc40c69
17:1636876 WDR81 G>A	17	1636876	1636876	G	A	WDR81	c.4545G>A	NM_001163809.1	NP_001157281.1:p.(Ala1515=)	NC_000017.10:g.1636876G>A	(Likely) benign	1 lab	5a6c22956e
16:47495300 PHKB G>A	16	47495300	47495300	G	A	PHKB	c.39G>A	NM_000293.2	NP_000284.1:p.(Trp13Ter)	NC_000016.9:g.47495300G>A	(Likely) benign	1 lab	5a70009d78
10:50724422 ERCC6 G>A	10	50724422	50724422	G	A	ERCC6	c.2143C>T	NM_001277058.1	NP_001263987.1:p.(Arg715Ter)	NC_000010.10:g.50724422G>A	VUS	1 lab	5a70b3574c
11:1268367 MUC5B G>A	11	1268367	1268367	G	A	MUC5B	c.10257G>A	NM_002458.2	NP_002449.2:p.(Leu3419=)	NC_000011.9:g.1268367G>A	(Likely) benign	1 lab	5a71e19cfe
X:36011366 CFAP47 A>G	X	36011366	36011366	A	G	CFAP47	c.3027A>G	NM_001304548.1	NP_001291477.1:p.(Pro1009=)	NC_000023.10:g.36011366A>G	(Likely) benign	1 lab	5a7262f803
7:128040928 IMPDH1 A>G	7	128040928	128040928	A	G	IMPDH1	c.522T>C	NM_000883.3	NP_000874.2:p.(Gly174=)	NC_000007.13:g.128040928A>G	(Likely) benign	1 lab	5a73105e02
X:49069162 CACNA1F G>A	X	49069162	49069162	G	A	CACNA1F	c.3940C>T	NM_005183.3	NP_005174.2:p.(Arg1314Cys)	NC_000023.10:g.49069162G>A	VUS	1 lab	5a732115f1
5:89977144 ADGRV1 T>C	5	89977144	89977144	T	C	ADGRV1	c.5537T>C	NM_032119.4	NP_115495.3:p.(Val1846Ala)	NC_000005.9:g.89977144T>C	VUS	1 lab	5a786e02b8
X:48689717 PCSK1N C>G	X	48689717	48689717	C	G	PCSK1N	c.736G>C	NM_013271.5	NP_037403.1:p.(Glu246Gln)	NC_000023.10:g.48689717C>G	VUS	1 lab	5a7989f4e4
X:83723864 HDX T>C	X	83723864	83723864	T	C	HDX	c.867A>G	NM_001177479.2	NP_001170950.1:p.(Ala289=)	NC_000023.10:g.83723864T>C	(Likely) benign	1 lab	5a79dba14c
11:6646099 DCHS1 C>T	11	6646099	6646099	C	T	DCHS1				NC_000011.9:g.6646099C>T	VUS	1 lab	5a7a5d8812
13:51503647 RNASEH2B A>G	13	51503647	51503647	A	G	RNASEH2B	c.173A>G	NM_001142279.2	NP_001135751.1:p.(Gln58Arg)	NC_000013.10:g.51503647A>G	(Likely) benign	1 lab	5a7b59d0f8
X:135741330 CD40LG G>A	X	135741330	135741330	G	A	CD40LG	c.542G>A	NM_000074.2	NP_000065.1:p.(Arg181Gln)	NC_000023.10:g.135741330G>A	(Likely) benign	1 lab	5a7bd44f52
2:69420481 ANTXR1 C>T	2	69420481	69420481	C	T	ANTXR1	c.1368C>T	NM_032208.2	NP_115584.1:p.(Ala456=)	NC_000002.11:g.69420481C>T	(Likely) benign	1 lab	5a7d9aec94
5:175992392 CDHR2 C>T	5	175992392	175992392	C	T	CDHR2	c.39C>T	NM_001171976.1	NP_001165447.1:p.(Ala13=)	NC_000005.9:g.175992392C>T	(Likely) benign	1 lab	5a7dabda5e
20:47614885 ARFGEF2 G>A	20	47614885	47614885	G	A	ARFGEF2	c.3275G>A	NM_006420.2	NP_006411.2:p.(Arg1092His)	NC_000020.10:g.47614885G>A	VUS	1 lab	5a7dbed942
6:31935145 SKIC2 G>A	6	31935145	31935145	G	A	SKIC2	c.2574G>A	NM_006929.4	NP_008860.4:p.(Val858=)	NC_000006.11:g.31935145G>A	(Likely) benign	1 lab	5a7e76bdb8
18:43508962 EPG5 G>A	18	43508962	43508962	G	A	EPG5	c.2426C>T	NM_020964.3	NP_066015.2:p.(Thr809Ile)	NC_000018.9:g.43508962G>A	(Likely) benign	1 lab	5a7f7dbed2
11:67808754 TCIRG1 C>T	11	67808754	67808754	C	T	TCIRG1				NC_000011.9:g.67808754C>T	VUS	1 lab	5a80f4c125
19:56369956 NLRP4 G>A	19	56369956	56369956	G	A	NLRP4	c.1197G>A	NM_134444.4	NP_604393.2:p.(Leu399=)	NC_000019.9:g.56369956G>A	(Likely) benign	1 lab	5a810e2a55
X:120008870 CT47B1 C>A	X	120008870	120008870	C	A	CT47B1	c.655G>T	NM_001145718.1	NP_001139190.1:p.(Ala219Ser)	NC_000023.10:g.120008870C>A	(Likely) benign	1 lab	5a810f6ce9
7:1539796 INTS1 C>T	7	1539796	1539796	C	T	INTS1	c.546+10G>A	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1539796C>T	(Likely) benign	1 lab	5a8196a8b0
1:36563536 COL8A2 G>A	1	36563536	36563536	G	A	COL8A2	c.1746C>T	NM_005202.3	NP_005193.1:p.(Thr582=)	NC_000001.10:g.36563536G>A	(Likely) benign	1 lab	5a81cc526c
10:104678900 CNNM2 C>G	10	104678900	104678900	C	G	CNNM2	c.663C>G	NM_017649.4	NP_060119.3:p.(Ala221=)	NC_000010.10:g.104678900C>G	(Likely) benign	1 lab	5a81fa56be
13:96506693 UGGT2 C>G	13	96506693	96506693	C	G	UGGT2	c.4045G>C	NM_020121.4	NP_064506.3:p.(Asp1349His)	NC_000013.10:g.96506693C>G	VUS	1 lab	5a84935f29
14:31598406 HECTD1 C>T	14	31598406	31598406	C	T	HECTD1	c.4171G>A	NM_015382.4	NP_056197.3:p.(Val1391Met)	NC_000014.8:g.31598406C>T	VUS	1 lab	5a88250985
19:55284821 KIR2DL1 G>A	19	55284821	55284821	G	A	KIR2DL1	c.107G>A	NM_014218.2	NP_055033.2:p.(Gly36Asp)	NC_000019.9:g.55284821G>A	(Likely) benign	1 lab	5a88b1313d
X:70328185 IL2RG C>T	X	70328185	70328185	C	T	IL2RG	c.866G>A	NM_000206.3	NP_000197.1:p.(Arg289Gln)	NC_000023.10:g.70328185C>T	VUS	1 lab	f29eb872fd
X:49855035 CLCN5 T>C	X	49855035	49855035	T	C	CLCN5	c.2007T>C	NM_001127899.3	NP_001121371.1:p.(Thr669=)	NC_000023.10:g.49855035T>C	(Likely) benign	1 lab	5a8ac82c73
2:192543354 NABP1 A>G	2	192543354	192543354	A	G	NABP1	c.14A>G	NM_001031716.2	NP_001026886.1:p.(Asn5Ser)	NC_000002.11:g.192543354A>G	(Likely) benign	1 lab	5a8e351bbe
X:53607875 HUWE1 C>T	X	53607875	53607875	C	T	HUWE1	c.5632G>A	NM_031407.6	NP_113584.3:p.(Ala1878Thr)	NC_000023.10:g.53607875C>T	VUS	1 lab	5a8f4df31a
3:11067472 SLC6A1 C>A	3	11067472	11067472	C	A	SLC6A1	c.863C>A	NM_003042.3	NP_003033.3:p.(Ala288Glu)	NC_000003.11:g.11067472C>A	(Likely) pathogenic	1 lab	5a8fe0c464
6:6182234 F13A1 G>A	6	6182234	6182234	G	A	F13A1	c.1446C>T	NM_000129.3	NP_000120.2:p.(Tyr482=)	NC_000006.11:g.6182234G>A	(Likely) benign	1 lab	5a8fea5b1a
2:152487332 NEB C>T	2	152487332	152487332	C	T	NEB	c.9620G>A	NM_001271208.1	NP_001258137.1:p.(Arg3207His)	NC_000002.11:g.152487332C>T	VUS	1 lab	5a90645daf
2:174228144 CDCA7 A>G	2	174228144	174228144	A	G	CDCA7	c.575A>G	NM_031942.4	NP_114148.3:p.(Asn192Ser)	NC_000002.11:g.174228144A>G	(Likely) benign	1 lab	5a90b660f0
4:126328082 FAT4 T>G	4	126328082	126328082	T	G	FAT4	c.5355T>G	NM_001291303.1	NP_001278232.1:p.(Asp1785Glu)	NC_000004.11:g.126328082T>G	VUS	1 lab	5a9111d006
10:61831930 ANK3 T>C	10	61831930	61831930	T	C	ANK3	c.8709A>G	NM_020987.5	NP_066267.2:p.(Arg2903=)	NC_000010.10:g.61831930T>C	(Likely) benign	1 lab	5a925dd47a
20:57290347 NPEPL1 C>A	20	57290347	57290347	C	A	NPEPL1	c.1537C>A	NM_024663.4	NP_078939.3:p.(Leu513Met)	NC_000020.10:g.57290347C>A	(Likely) benign	1 lab	5a932cb0e7
16:23649247 PALB2 C>CT	16	23649247	23649249	C	CT	PALB2	c.134dup	NM_024675.4	NP_078951.2:p.(His46AlafsTer4)	NC_000016.9:g.23649249dup	(Likely) pathogenic	1 lab	f2a442ec9a
1:27427083 SLC9A1 C>T	1	27427083	27427083	C	T	SLC9A1	c.2163G>A	NM_003047.4	NP_003038.2:p.(Pro721=)	NC_000001.10:g.27427083C>T	(Likely) benign	1 lab	5a95ca2dc5
7:75608803 POR C>T	7	75608803	75608803	C	T	POR	c.272C>T	NM_000941.2	NP_000932.3:p.(Thr91Met)	NC_000007.13:g.75608803C>T	VUS	1 lab	5a9680cd85
9:135796805 TSC1 G>A	9	135796805	135796805	G	A	TSC1	c.682C>T	NM_000368.4	NP_000359.1:p.(Arg228Ter)	NC_000009.11:g.135796805G>A	(Likely) pathogenic	1 lab	5a975c831b
12:81026023 MISSING T>A	12	81026023	81026023	T	A	MISSING				NC_000012.11:g.81026023T>A	(Likely) pathogenic	1 lab	5a98670088
11:122666987 UBASH3B G>A	11	122666987	122666987	G	A	UBASH3B	c.1234+3G>A	NM_032873.5	NP_116262.2:p.?	NC_000011.9:g.122666987G>A	(Likely) benign	1 lab	5a98e2fa87
16:78149048 WWOX A>G	16	78149048	78149048	A	G	WWOX	c.406A>G	NM_016373.3	NP_057457.1:p.(Ile136Val)	NC_000016.9:g.78149048A>G	VUS	1 lab	5a993cd0cf
17:41251806 BRCA1 A>T	17	41251806	41251806	A	T	BRCA1	c.533T>A	NM_007294.3	NP_009225.1:p.(Val178Asp)	NC_000017.10:g.41251806A>T	VUS	1 lab	5a9a9dda77
4:8870042 HMX1 C>T	4	8870042	8870042	C	T	HMX1	c.424G>A	NM_018942.2	NP_061815.2:p.(Glu142Lys)	NC_000004.11:g.8870042C>T	(Likely) benign	1 lab	5a9b491619
9:140866021 CACNA1B C>T	9	140866021	140866021	C	T	CACNA1B	c.1520C>T	NM_000718.4	NP_000709.1:p.(Pro507Leu)	NC_000009.11:g.140866021C>T	VUS	1 lab	f2a730b88d
10:90574980 LIPM AG>A	10	90574980	90574982	AG	A	LIPM	c.711+1del	NM_001128215.1	NP_001121687.1:p.?	NC_000010.10:g.90574982del	VUS	1 lab	5aaf98253e
14:23900882 MYH7 G>A	14	23900882	23900882	G	A	MYH7	c.644C>T	NM_000257.2	NP_000248.2:p.(Thr215Ile)	NC_000014.8:g.23900882G>A	VUS	1 lab	5a9c5efa57
X:41031102 USP9X G>C	X	41031102	41031102	G	C	USP9X	c.3039G>C	NM_001039591.3	NP_001034680.2:p.(Leu1013=)	NC_000023.10:g.41031102G>C	(Likely) benign	1 lab	5a9e183b4c
19:55539072 GP6 T>G	19	55539072	55539072	T	G	GP6	c.484A>C	NM_001083899.2	NP_001077368.2:p.(Arg162=)	NC_000019.9:g.55539072T>G	(Likely) benign	1 lab	f2a859b7ae
17:78157851 CARD14 C>T	17	78157851	78157851	C	T	CARD14	c.489C>T	NM_024110.4	NP_077015.2:p.(Ala163=)	NC_000017.10:g.78157851C>T	(Likely) benign	1 lab	f2aa1b0465
14:23894566 MYH7 C>A	14	23894566	23894566	C	A	MYH7	c.2348G>T	NM_000257.4	NP_000248.2:p.(Arg783Leu)	NC_000014.8:g.23894566C>A	VUS	1 lab	f2aa4be0f2
3:4683944 ITPR1 G>A	3	4683944	4683944	G	A	ITPR1	c.525+9G>A	NM_001168272.1	NP_001161744.1:p.?	NC_000003.11:g.4683944G>A	(Likely) benign	1 lab	5aa4a59826
8:90982814 NBN G>A	8	90982814	90982814	G	A	NBN	c.703-29C>T	NM_002485.4	NP_002476.2:p.?	NC_000008.10:g.90982814G>A	(Likely) benign	1 lab	5aa6da8512
17:18047097 MYO15A G>A	17	18047097	18047097	G	A	MYO15A	c.6033G>A	NM_016239.3	NP_057323.3:p.(Leu2011=)	NC_000017.10:g.18047097G>A	(Likely) benign	1 lab	5aa77efa1e
2:136562398 LCT G>A	2	136562398	136562398	G	A	LCT	c.4403C>T	NM_002299.2	NP_002290.2:p.(Ala1468Val)	NC_000002.11:g.136562398G>A	VUS	1 lab	5aaac6ddc8
11:66204592 MRPL11 G>A	11	66204592	66204592	G	A	MRPL11	c.456C>T	NM_170739.3	NP_733935.1:p.(Gly152=)	NC_000011.9:g.66204592G>A	(Likely) benign	1 lab	5aadc8665e
17:36499531 GPR179 G>C	17	36499531	36499531	G	C	GPR179	c.142C>G	NM_001004334.4	NP_001004334.3:p.(Pro48Ala)	NC_000017.10:g.36499531G>C	VUS	1 lab	f2ad8da233
14:50750577 L2HGDH A>G	14	50750577	50750577	A	G	L2HGDH	c.703+12T>C	NM_024884.3	NP_079160.1:p.?	NC_000014.8:g.50750577A>G	(Likely) benign	1 lab	f2adf4155f
X:30254211 MAGEB3 G>A	X	30254211	30254211	G	A	MAGEB3	c.170G>A	NM_002365.4	NP_002356.2:p.(Arg57Lys)	NC_000023.10:g.30254211G>A	VUS	1 lab	5ab0f3ebe3
8:145541761 DGAT1 G>A	8	145541761	145541761	G	A	DGAT1	c.748C>T	NM_012079.5	NP_036211.2:p.(Arg250Cys)	NC_000008.10:g.145541761G>A	VUS	1 lab	5ab22b427d
1:152192960 HRNR C>G	1	152192960	152192960	C	G	HRNR	c.1145G>C	NM_001009931.2	NP_001009931.1:p.(Gly382Ala)	NC_000001.10:g.152192960C>G	(Likely) benign	1 lab	5ab355ef09
4:72215792 SLC4A4 A>G	4	72215792	72215792	A	G	SLC4A4	c.550+3A>G	NM_001098484.2	NP_001091954.1:p.?	NC_000004.11:g.72215792A>G	(Likely) benign	1 lab	5ab3b31f5a
9:2643179 VLDLR C>T	9	2643179	2643179	C	T	VLDLR	c.468C>T	NM_003383.4	NP_003374.3:p.(Pro156=)	NC_000009.11:g.2643179C>T	(Likely) benign	1 lab	5ab4d27c20
X:43603625 MAOA G>A	X	43603625	43603625	G	A	MAOA	c.1050G>A	NM_001270458.1	NP_001257387.1:p.(Ala350=)	NC_000023.10:g.43603625G>A	(Likely) benign	1 lab	5ab5470404
7:94285333 SGCE GC>G	7	94285333	94285334	GC	G	SGCE	c.77del	NM_003919.3	NP_003910.1:p.(Ser26ThrfsTer10)	NC_000007.13:g.94285334del	(Likely) pathogenic	1 lab	5ab5785da9
11:72004664 CLPB C>T	11	72004664	72004664	C	T	CLPB	c.1876-5G>A	NM_030813.6	NP_110440.1:p.?	NC_000011.9:g.72004664C>T	(Likely) benign	1 lab	5ab746f3bb
14:64564679 SYNE2 C>T	14	64564679	64564679	C	T	SYNE2	c.12121C>T	NM_182914.2	NP_878918.2:p.(Arg4041Cys)	NC_000014.8:g.64564679C>T	(Likely) benign	1 lab	5ab7ab1ef2
3:124731627 HEG1 G>A	3	124731627	124731627	G	A	HEG1	c.2796C>T	NM_020733.2	NP_065784.1:p.(Gly932=)	NC_000003.11:g.124731627G>A	(Likely) benign	1 lab	5ab7e81e8f
7:22986683 HYCC1 T>C	7	22986683	22986683	T	C	HYCC1	c.1175A>G	NM_001363466.1	NP_001350395.1:p.(Lys392Arg)	NC_000007.13:g.22986683T>C	(Likely) benign	1 lab	5aba253b76
9:35715095 TLN1 C>T	9	35715095	35715095	C	T	TLN1	c.2715G>A	NM_006289.4	NP_006280.3:p.(Ala905=)	NC_000009.11:g.35715095C>T	(Likely) benign	1 lab	5aba7a6e8a
4:151242422 LRBA C>T	4	151242422	151242422	C	T	LRBA	c.7551G>A	NM_001199282.2	NP_001186211.2:p.(Gln2517=)	NC_000004.11:g.151242422C>T	(Likely) benign	1 lab	5aba7f5bf6
3:4358849 SETMAR G>C	3	4358849	4358849	G	C	SETMAR	c.1974G>C	NM_006515.3	NP_006506.3:p.(Thr658=)	NC_000003.11:g.4358849G>C	(Likely) benign	1 lab	5abb231320
19:36002370 DMKN ACCACTGCTGCCGCCACTGCTGCCG>A	19	36002370	36002404	ACCACTGCTGCCGCCACTGCTGCCG	A	DMKN	c.837_860del	NM_033317.5	NP_201574.4:p.(Gly284_Gly291del)	NC_000019.9:g.36002381_36002404del	(Likely) benign	1 lab	5abc104d29
6:70070858 ADGRB3 C>T	6	70070858	70070858	C	T	ADGRB3	c.3693C>T	NM_001704.3	NP_001695.2:p.(Asn1231=)	NC_000006.11:g.70070858C>T	(Likely) benign	1 lab	5abd205cbf
22:51143287 MISSING C>T	22	51143287	51143287	C	T	MISSING				NC_000022.10:g.51143287C>T	(Likely) benign	1 lab	5abda339be
12:6568016 TAPBPL C>A	12	6568016	6568016	C	A	TAPBPL	c.720C>A	NM_001351355.1	NP_001338284.1:p.(Thr240=)	NC_000012.11:g.6568016C>A	(Likely) benign	1 lab	5abe1bb9b1
19:55255407 KIR2DL3 G>A	19	55255407	55255407	G	A	KIR2DL3	c.535G>A	NM_015868.2	NP_056952.2:p.(Gly179Arg)	NC_000019.9:g.55255407G>A	(Likely) benign	1 lab	5abe8ee047
19:6501636 TUBB4A TAG>T	19	6501636	6501646	TAG	T	TUBB4A	c.58-4_58-3del	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6501645_6501646del	(Likely) benign	1 lab	5abe92fc09
14:61115844 SIX1 G>A	14	61115844	61115844	G	A	SIX1	c.64C>T	NM_005982.3	NP_005973.1:p.(Gln22Ter)	NC_000014.8:g.61115844G>A	(Likely) pathogenic	1 lab	5abecbbc18
14:105408864 AHNAK2 G>A	14	105408864	105408864	G	A	AHNAK2	c.12924C>T	NM_138420.3	NP_612429.2:p.(Phe4308=)	NC_000014.8:g.105408864G>A	(Likely) benign	1 lab	5abf11fc3c
7:6854403 CCZ1B C>T	7	6854403	6854403	C	T	CCZ1B	c.772G>A	NM_198097.3	NP_932765.1:p.(Glu258Lys)	NC_000007.13:g.6854403C>T	VUS	1 lab	5ac196713e
16:2096342 NTHL1 C>T	16	2096342	2096342	C	T	NTHL1	c.141G>A	NM_002528.7	NP_002519.2:p.(Val47=)	NC_000016.9:g.2096342C>T	(Likely) benign	1 lab	5ac1d8b001
19:56005994 SSC5D G>A	19	56005994	56005994	G	A	SSC5D	c.1231G>A	NM_001144950.1	NP_001138422.1:p.(Val411Ile)	NC_000019.9:g.56005994G>A	(Likely) benign	1 lab	5ac2d0b641
13:114503821 TMEM255B G>A	13	114503821	114503821	G	A	TMEM255B	c.445G>A	NM_182614.3	NP_872420.1:p.(Gly149Ser)	NC_000013.10:g.114503821G>A	(Likely) benign	1 lab	5ac377d587
6:64940625 EYS G>A	6	64940625	64940625	G	A	EYS	c.6284C>T	NM_001292009.1	NP_001278938.1:p.(Pro2095Leu)	NC_000006.11:g.64940625G>A	(Likely) benign	1 lab	5ac63e6d3a
19:13409710 CACNA1A G>A	19	13409710	13409710	G	A	CACNA1A	c.2749C>T	NM_023035.2	NP_075461.2:p.(Pro917Ser)	NC_000019.9:g.13409710G>A	(Likely) benign	1 lab	5ac779edf4
6:133767807 EYA4 T>C	6	133767807	133767807	T	C	EYA4	c.123T>C	NM_004100.4	NP_004091.3:p.(Leu41=)	NC_000006.11:g.133767807T>C	(Likely) benign	1 lab	5ac928ea41
X:36298728 CFAP47 T>C	X	36298728	36298728	T	C	CFAP47	c.7571T>C	NM_001304548.1	NP_001291477.1:p.(Leu2524Ser)	NC_000023.10:g.36298728T>C	(Likely) benign	1 lab	5ac98ff7b5
8:61654733 CHD7 T>A	8	61654733	61654733	T	A	CHD7				NC_000008.10:g.61654733T>A	VUS	1 lab	5acac5bda9
1:114450722 DCLRE1B C>G	1	114450722	114450722	C	G	DCLRE1B	c.447C>G	NM_022836.4	NP_073747.1:p.(Cys149Trp)	NC_000001.10:g.114450722C>G	VUS	1 lab	5ad0efd605
12:39761839 KIF21A CA>C	12	39761839	39761846	CA	C	KIF21A	c.451-6del	NM_001173464.2	NP_001166935.1:p.?	NC_000012.11:g.39761846del	(Likely) benign	1 lab	5ad2039ca7
16:23702501 ERN2 C>T	16	23702501	23702501	C	T	ERN2	c.2517G>A	NM_033266.4	NP_150296.4:p.(Arg839=)	NC_000016.9:g.23702501C>T	(Likely) benign	1 lab	5ad4816f4f
12:133338373 ANKLE2 C>G	12	133338373	133338373	C	G	ANKLE2	c.12G>C	NM_015114.2	NP_055929.1:p.(Pro4=)	NC_000012.11:g.133338373C>G	(Likely) benign	1 lab	5ad52e3624
16:1961803 HS3ST6 C>T	16	1961803	1961803	C	T	HS3ST6	c.817G>A	NM_001009606.3	NP_001009606.3:p.(Val273Ile)	NC_000016.9:g.1961803C>T	(Likely) benign	1 lab	5ad57ae03c
17:29527439 NF1 G>C	17	29527439	29527439	G	C	NF1	c.889-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29527439G>C	(Likely) pathogenic	1 lab	5ad6c68083
10:35929952 FZD8 C>T	10	35929952	35929952	C	T	FZD8	c.406G>A	NM_031866.2	NP_114072.1:p.(Asp136Asn)	NC_000010.10:g.35929952C>T	VUS	1 lab	5ad7a77986
19:49110301 SPACA4 C>T	19	49110301	49110301	C	T	SPACA4	c.66C>T	NM_133498.3	NP_598005.1:p.(Asp22=)	NC_000019.9:g.49110301C>T	(Likely) benign	1 lab	5ad866b18c
7:155599001 SHH G>A	7	155599001	155599001	G	A	SHH	c.551C>T	NM_000193.3	NP_000184.1:p.(Ser184Leu)	NC_000007.13:g.155599001G>A	VUS	1 lab	5ad94d81ea
21:47811250 PCNT G>A	21	47811250	47811250	G	A	PCNT	c.4175G>A	NM_006031.5	NP_006022.3:p.(Arg1392Gln)	NC_000021.8:g.47811250G>A	(Likely) benign	1 lab	5ad99ad173
14:105419821 AHNAK2 C>A	14	105419821	105419821	C	A	AHNAK2	c.1967G>T	NM_138420.3	NP_612429.2:p.(Arg656Leu)	NC_000014.8:g.105419821C>A	(Likely) benign	1 lab	5adb15a48c
10:48414240 GDF2 C>T	10	48414240	48414240	C	T	GDF2	c.628G>A	NM_016204.3	NP_057288.1:p.(Ala210Thr)	NC_000010.10:g.48414240C>T	VUS	1 lab	5adcbc3f18
19:54080095 ZNF331 G>A	19	54080095	54080095	G	A	ZNF331	c.281G>A	NM_018555.5	NP_061025.5:p.(Arg94His)	NC_000019.9:g.54080095G>A	(Likely) benign	1 lab	5addff050f
21:46925280 COL18A1 G>A	21	46925280	46925280	G	A	COL18A1	c.3013G>A	NM_130445.2	NP_569712.2:p.(Val1005Ile)	NC_000021.8:g.46925280G>A	(Likely) benign	1 lab	5ade6d1fb5
X:14027109 GEMIN8 C>T	X	14027109	14027109	C	T	GEMIN8	c.652G>A	NM_017856.2	NP_060326.1:p.(Ala218Thr)	NC_000023.10:g.14027109C>T	(Likely) benign	1 lab	5adf2b2418
15:38616954 SPRED1 A>G	15	38616954	38616954	A	G	SPRED1	c.377-10A>G	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38616954A>G	(Likely) benign	1 lab	5ae14423f9
11:103058297 DYNC2H1 G>A	11	103058297	103058297	G	A	DYNC2H1	c.7122G>A	NM_001080463.1	NP_001073932.1:p.(Leu2374=)	NC_000011.9:g.103058297G>A	(Likely) benign	1 lab	5ae26c097a
9:135771767 TSC1 A>G	9	135771767	135771767	A	G	TSC1	c.3350T>C	NM_000368.4	NP_000359.1:p.(Leu1117Pro)	NC_000009.11:g.135771767A>G	VUS	1 lab	5ae2f54c7e
X:18643279 CDKL5 C>T	X	18643279	18643279	C	T	CDKL5	c.2408C>T	NM_001323289.1	NP_001310218.1:p.(Thr803Met)	NC_000023.10:g.18643279C>T	(Likely) benign	1 lab	5ae4c9acac
12:81051795 MISSING C>T	12	81051795	81051795	C	T	MISSING				NC_000012.11:g.81051795C>T	(Likely) benign	1 lab	5ae5851bfb
X:129055536 UTP14A G>A	X	129055536	129055536	G	A	UTP14A	c.1321G>A	NM_006649.4	NP_006640.2:p.(Glu441Lys)	NC_000023.10:g.129055536G>A	(Likely) benign	1 lab	5ae63fa132
7:21765480 DNAH11 G>A	7	21765480	21765480	G	A	DNAH11				NC_000007.13:g.21765480G>A	VUS	1 lab	5ae88baa3a
11:6524134 DNHD1 G>A	11	6524134	6524134	G	A	DNHD1	c.898G>A	NM_144666.2	NP_653267.2:p.(Val300Met)	NC_000011.9:g.6524134G>A	VUS	1 lab	5ae88c0e44
7:143017771 CLCN1 C>G	7	143017771	143017771	C	G	CLCN1	c.316C>G	NM_000083.2	NP_000074.2:p.(Leu106Val)	NC_000007.13:g.143017771C>G	(Likely) benign	1 lab	5ae94e53f3
22:36722712 MYH9 A>C	22	36722712	36722712	A	C	MYH9	c.519-6T>G	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36722712A>C	VUS	1 lab	5aebd9357a
15:43622424 LCMT2 G>A	15	43622424	43622424	G	A	LCMT2	c.264C>T	NM_014793.4	NP_055608.2:p.(Leu88=)	NC_000015.9:g.43622424G>A	(Likely) benign	1 lab	5aecdd9cc8
X:110035363 CHRDL1 A>G	X	110035363	110035363	A	G	CHRDL1	c.47T>C	NM_001143981.1	NP_001137453.1:p.(Leu16Ser)	NC_000023.10:g.110035363A>G	(Likely) benign	1 lab	5aee596818
20:25319911 ABHD12 T>C	20	25319911	25319911	T	C	ABHD12	c.268A>G	NM_001042472.3	NP_001035937.1:p.(Ile90Val)	NC_000020.10:g.25319911T>C	(Likely) benign	1 lab	5aef0f0e69
18:47429160 MYO5B C>T	18	47429160	47429160	C	T	MYO5B	c.2615G>A	NM_001080467.2	NP_001073936.1:p.(Arg872Gln)	NC_000018.9:g.47429160C>T	VUS	1 lab	5af028d7d0
2:31572895 XDH T>C	2	31572895	31572895	T	C	XDH	c.2823+3A>G	NM_000379.3	NP_000370.2:p.?	NC_000002.11:g.31572895T>C	(Likely) benign	1 lab	5af1e518ec
9:14859388 FREM1 G>A	9	14859388	14859388	G	A	FREM1	c.424C>T	NM_144966.5	NP_659403.4:p.(Leu142=)	NC_000009.11:g.14859388G>A	(Likely) benign	1 lab	5af36f035c
3:77629201 ROBO2 G>A	3	77629201	77629201	G	A	ROBO2	c.2444G>A	NM_001290040.1	NP_001276969.1:p.(Arg815Gln)	NC_000003.11:g.77629201G>A	VUS	1 lab	5af39a0401
1:241661166 FH C>T	1	241661166	241661166	C	T	FH	c.1495G>A	NM_000143.3	NP_000134.2:p.(Glu499Lys)	NC_000001.10:g.241661166C>T	VUS	1 lab	5af42e5ed0
22:38120335 TRIOBP A>G	22	38120335	38120335	A	G	TRIOBP	c.1772A>G	NM_001039141.2	NP_001034230.1:p.(Asn591Ser)	NC_000022.10:g.38120335A>G	(Likely) benign	1 lab	5af55c58df
19:41928988 BCKDHA A>G	19	41928988	41928988	A	G	BCKDHA	c.1081A>G	NM_000709.3	NP_000700.1:p.(Ile361Val)	NC_000019.9:g.41928988A>G	VUS	1 lab	5af654931c
2:215835070 ABCA12 C>T	2	215835070	215835070	C	T	ABCA12	c.5617G>A	NM_173076.2	NP_775099.2:p.(Val1873Ile)	NC_000002.11:g.215835070C>T	(Likely) benign	1 lab	5af7f1b5ec
19:50203950 CPT1C A>C	19	50203950	50203950	A	C	CPT1C	c.291A>C	NM_001199752.2	NP_001186681.1:p.(Gln97His)	NC_000019.9:g.50203950A>C	(Likely) benign	1 lab	5af81475a8
19:4847899 PLIN3 C>T	19	4847899	4847899	C	T	PLIN3	c.638G>A	NM_005817.4	NP_005808.3:p.(Arg213His)	NC_000019.9:g.4847899C>T	(Likely) benign	1 lab	5afa9080d7
19:9062341 MUC16 C>T	19	9062341	9062341	C	T	MUC16	c.25105G>A	NM_024690.2	NP_078966.2:p.(Val8369Ile)	NC_000019.9:g.9062341C>T	(Likely) benign	1 lab	5afb84e10b
14:102504951 DYNC1H1 A>G	14	102504951	102504951	A	G	DYNC1H1	c.11055+8A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102504951A>G	(Likely) benign	1 lab	5afcbaf1c2
9:117170247 WHRN C>T	9	117170247	117170247	C	T	WHRN	c.1678G>A	NM_015404.3	NP_056219.3:p.(Ala560Thr)	NC_000009.11:g.117170247C>T	(Likely) benign	1 lab	5afcdc44be
8:99170233 POP1 G>A	8	99170233	99170233	G	A	POP1	c.2809G>A	NM_001145860.1	NP_001139332.1:p.(Val937Met)	NC_000008.10:g.99170233G>A	(Likely) benign	1 lab	5aff39280d
17:73515073 TSEN54 G>T	17	73515073	73515073	G	T	TSEN54	c.469-3G>T	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73515073G>T	(Likely) benign	1 lab	5b007ffc80
3:32031544 ZNF860 C>T	3	32031544	32031544	C	T	ZNF860	c.973C>T	NM_001137674.2	NP_001131146.2:p.(Arg325Cys)	NC_000003.11:g.32031544C>T	(Likely) benign	1 lab	5b01d24da2
17:29588788 NF1 T>C	17	29588788	29588788	T	C	NF1	c.4574T>C	NM_000267.3	NP_000258.1:p.(Leu1525Pro)	NC_000017.10:g.29588788T>C	VUS	1 lab	5b01ee7ba5
12:52307540 ACVRL1 G>A	12	52307540	52307540	G	A	ACVRL1	c.511G>A	NM_000020.3	NP_000011.2:p.(Asp171Asn)	NC_000012.11:g.52307540G>A	VUS	1 lab	f2b5df2014
5:149755746 TCOF1 C>G	5	149755746	149755746	C	G	TCOF1	c.1995C>G	NM_001135243.1	NP_001128715.1:p.(Ala665=)	NC_000005.9:g.149755746C>G	(Likely) benign	1 lab	5b041e25e1
X:37312824 PRRG1 A>T	X	37312824	37312824	A	T	PRRG1	c.607A>T	NM_001173489.1	NP_001166960.1:p.(Asn203Tyr)	NC_000023.10:g.37312824A>T	VUS	1 lab	5b04926edd
1:94490588 ABCA4 G>A	1	94490588	94490588	G	A	ABCA4	c.4556C>T	NM_000350.2	NP_000341.2:p.(Thr1519Met)	NC_000001.10:g.94490588G>A	VUS	1 lab	5b06adc288
21:34926840 SON CCAGCCCGGTTGTA>C	21	34926840	34926853	CCAGCCCGGTTGTA	C	SON	c.5304_5316del	NM_138927.4	NP_620305.3:p.(Ser1769ValfsTer22)	NC_000021.8:g.34926841_34926853del	VUS	1 lab	5b06dd2a5f
8:6301939 MCPH1 C>T	8	6301939	6301939	C	T	MCPH1	c.696C>T	NM_024596.4	NP_078872.2:p.(His232=)	NC_000008.10:g.6301939C>T	(Likely) benign	1 lab	5b07186011
X:110987996 ALG13 A>ACCACCT	X	110987996	110987999	A	ACCACCT	ALG13	c.2564_2565insACCTCC	NM_001257231.1	NP_001244160.1:p.(Pro866_Pro867dup)	NC_000023.10:g.110987998_110987999insACCTCC	(Likely) benign	1 lab	5b073a0a99
X:152014961 NSDHL G>T	X	152014961	152014961	G	T	NSDHL	c.93G>T	NM_001129765.1	NP_001123237.1:p.(Lys31Asn)	NC_000023.10:g.152014961G>T	(Likely) benign	1 lab	5b07b18ae0
22:37447801 KCTD17 A>T	22	37447801	37447801	A	T	KCTD17	c.22A>T	NM_001282684.1	NP_001269613.1:p.(Met8Leu)	NC_000022.10:g.37447801A>T	(Likely) benign	1 lab	5b0920ab57
9:135797277 TSC1 T>TG	9	135797277	135797278	T	TG	TSC1	c.591dup	NM_000368.4	NP_000359.1:p.(Asn198GlnfsTer20)	NC_000009.11:g.135797278dup	(Likely) pathogenic	1 lab	5b0a00bda7
15:52641025 MYO5A T>C	15	52641025	52641025	T	C	MYO5A	c.3850-2A>G	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52641025T>C	VUS	1 lab	5b0b6fe1c2
17:41215356 BRCA1 C>T	17	41215356	41215356	C	T	BRCA1	c.5187G>A	NM_007294.3	NP_009225.1:p.(Leu1729=)	NC_000017.10:g.41215356C>T	(Likely) benign	1 lab	5b0d3f9734
4:183674625 TENM3 A>G	4	183674625	183674625	A	G	TENM3	c.3885A>G	NM_001080477.3	NP_001073946.1:p.(Gly1295=)	NC_000004.11:g.183674625A>G	(Likely) benign	1 lab	5b0df8a79b
16:89258767 CDH15 G>T	16	89258767	89258767	G	T	CDH15	c.1770G>T	NM_004933.2	NP_004924.1:p.(Pro590=)	NC_000016.9:g.89258767G>T	(Likely) benign	1 lab	5b0f5c4876
6:56391334 DST G>A	6	56391334	56391334	G	A	DST	c.11597C>T	NM_001144769.2	NP_001138241.1:p.(Ala3866Val)	NC_000006.11:g.56391334G>A	VUS	1 lab	5b10b03308
4:183675915 TENM3 C>T	4	183675915	183675915	C	T	TENM3	c.4395C>T	NM_001080477.3	NP_001073946.1:p.(Tyr1465=)	NC_000004.11:g.183675915C>T	(Likely) benign	1 lab	5b12f9185d
X:135586549 HTATSF1 G>C	X	135586549	135586549	G	C	HTATSF1	c.761G>C	NM_001163280.1	NP_001156752.1:p.(Arg254Pro)	NC_000023.10:g.135586549G>C	(Likely) benign	1 lab	5b13db2406
9:100201542 TDRD7 G>A	9	100201542	100201542	G	A	TDRD7	c.579G>A	NM_014290.2	NP_055105.2:p.(Ala193=)	NC_000009.11:g.100201542G>A	(Likely) benign	1 lab	5b14beee87
5:140559140 PCDHB8 A>G	5	140559140	140559140	A	G	PCDHB8	c.1525A>G	NM_019120.4	NP_061993.3:p.(Thr509Ala)	NC_000005.9:g.140559140A>G	(Likely) benign	1 lab	5b1513991c
6:37614994 MDGA1 G>A	6	37614994	37614994	G	A	MDGA1	c.2001C>T	NM_153487.3	NP_705691.1:p.(Pro667=)	NC_000006.11:g.37614994G>A	(Likely) benign	1 lab	5b154cc799
X:134989554 SAGE1 A>G	X	134989554	134989554	A	G	SAGE1	c.960A>G	NM_018666.2	NP_061136.2:p.(Gln320=)	NC_000023.10:g.134989554A>G	(Likely) benign	1 lab	5b15e7e266
13:39432017 FREM2 G>A	13	39432017	39432017	G	A	FREM2	c.7062G>A	NM_207361.5	NP_997244.4:p.(Thr2354=)	NC_000013.10:g.39432017G>A	(Likely) benign	1 lab	5b16ab328b
2:98810904 VWA3B A>G	2	98810904	98810904	A	G	VWA3B	c.1686A>G	NM_144992.4	NP_659429.4:p.(Glu562=)	NC_000002.11:g.98810904A>G	(Likely) benign	1 lab	5b189683df
2:170354218 BBS5 T>C	2	170354218	170354218	T	C	BBS5	c.681+19T>C	NM_152384.2	NP_689597.1:p.?	NC_000002.11:g.170354218T>C	(Likely) benign	1 lab	5b18f5eef3
1:22150160 LDLRAD2 G>T	1	22150160	22150160	G	T	LDLRAD2	c.*1452G>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150160G>T	(Likely) benign	1 lab	f2bb747982
6:71003878 COL9A1 A>T	6	71003878	71003878	A	T	COL9A1	c.688T>A	NM_001851.4	NP_001842.3:p.(Ser230Thr)	NC_000006.11:g.71003878A>T	VUS	1 lab	5b19996f93
13:99127511 STK24 G>T	13	99127511	99127511	G	T	STK24	c.432C>A	NM_001032296.3	NP_001027467.2:p.(Asp144Glu)	NC_000013.10:g.99127511G>T	VUS	1 lab	5b19c32654
15:43910520 STRC G>A	15	43910520	43910520	G	A	STRC	c.99C>T	NM_153700.2	NP_714544.1:p.(Asp33=)	NC_000015.9:g.43910520G>A	(Likely) benign	1 lab	5b1a1908b3
17:18052101 MYO15A G>A	17	18052101	18052101	G	A	MYO15A	c.6791G>A	NM_016239.3	NP_057323.3:p.(Trp2264Ter)	NC_000017.10:g.18052101G>A	(Likely) pathogenic	1 lab	5b1b739a59
2:179438602 TTN T>A	2	179438602	179438602	T	A	TTN	c.67334A>T	NM_001256850.1	NP_001243779.1:p.(Asn22445Ile)	NC_000002.11:g.179438602T>A	VUS	1 lab	f2bd112c7b
5:140884973 PCDHGB1 G>A	5	140884973	140884973	G	A	PCDHGB1	c.2482G>A	NM_018922.2	NP_061745.1:p.(Asp828Asn)	NC_000005.9:g.140884973G>A	VUS	1 lab	5b1c7ad9c4
9:131670112 LRRC8A C>T	9	131670112	131670112	C	T	LRRC8A	c.669C>T	NM_001127244.1	NP_001120716.1:p.(Ile223=)	NC_000009.11:g.131670112C>T	(Likely) benign	1 lab	5b1d8e7a65
16:2345684 ABCA3 G>A	16	2345684	2345684	G	A	ABCA3	c.2321C>T	NM_001089.2	NP_001080.2:p.(Ser774Phe)	NC_000016.9:g.2345684G>A	VUS	1 lab	5b1e928b5d
1:236157005 NID1 C>T	1	236157005	236157005	C	T	NID1	c.2695G>A	NM_002508.2	NP_002499.2:p.(Val899Met)	NC_000001.10:g.236157005C>T	VUS	1 lab	5b1eb91483
X:99657540 PCDH19 G>A	X	99657540	99657540	G	A	PCDH19	c.2598C>T	NM_001184880.1	NP_001171809.1:p.(Asn866=)	NC_000023.10:g.99657540G>A	(Likely) benign	1 lab	5b1f13a3f3
15:101433161 ALDH1A3 G>A	15	101433161	101433161	G	A	ALDH1A3	c.487G>A	NM_000693.3	NP_000684.2:p.(Val163Met)	NC_000015.9:g.101433161G>A	VUS	1 lab	5b1f248c24
10:79770247 POLR3A T>C	10	79770247	79770247	T	C	POLR3A	c.1624A>G	NM_007055.3	NP_008986.2:p.(Ile542Val)	NC_000010.10:g.79770247T>C	VUS	1 lab	5b209ce8e7
X:39934215 BCOR T>A	X	39934215	39934215	T	A	BCOR	c.384A>T	NM_001123385.1	NP_001116857.1:p.(Thr128=)	NC_000023.10:g.39934215T>A	(Likely) benign	1 lab	5b2114d439
6:33144063 COL11A2 C>G	6	33144063	33144063	C	G	COL11A2	c.2187G>C	NM_080680.2	NP_542411.2:p.(Arg729=)	NC_000006.11:g.33144063C>G	(Likely) benign	1 lab	5b22556efe
10:43613834 RET G>A	10	43613834	43613834	G	A	RET	c.2298G>A	NM_020975.6	NP_066124.1:p.(Pro766=)	NC_000010.10:g.43613834G>A	VUS	1 lab	f2bfd16c89
1:155265446 PKLR C>G	1	155265446	155265446	C	G	PKLR	c.375+10G>C	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155265446C>G	(Likely) benign	1 lab	5b23e3f46c
20:25058389 VSX1 G>C	20	25058389	25058389	G	C	VSX1	c.740C>G	NM_001256272.1	NP_001243201.1:p.(Pro247Arg)	NC_000020.10:g.25058389G>C	VUS	1 lab	5b24229f4b
1:865633 SAMD11 C>A	1	865633	865633	C	A	SAMD11	c.171C>A	NM_152486.3	NP_689699.2:p.(Asp57Glu)	NC_000001.10:g.865633C>A	VUS	1 lab	5b262c75d5
8:55541592 RP1 A>G	8	55541592	55541592	A	G	RP1	c.5150A>G	NM_006269.1	NP_006260.1:p.(Asp1717Gly)	NC_000008.10:g.55541592A>G	VUS	1 lab	5b27c1b99f
4:654298 PDE6B T>C	4	654298	654298	T	C	PDE6B	c.1510T>C	NM_000283.3	NP_000274.2:p.(Phe504Leu)	NC_000004.11:g.654298T>C	VUS	1 lab	5b29f01a1f
5:73045773 ARHGEF28 C>T	5	73045773	73045773	C	T	ARHGEF28	c.145C>T	NM_001080479.2	NP_001073948.2:p.(Arg49Cys)	NC_000005.9:g.73045773C>T	VUS	1 lab	5b2ab7b7b5
X:22095653 PHEX C>T	X	22095653	22095653	C	T	PHEX	c.496C>T	NM_000444.5	NP_000435.3:p.(Arg166Cys)	NC_000023.10:g.22095653C>T	VUS	1 lab	5b2bdb33d6
19:9056511 MUC16 G>A	19	9056511	9056511	G	A	MUC16	c.30935C>T	NM_024690.2	NP_078966.2:p.(Pro10312Leu)	NC_000019.9:g.9056511G>A	(Likely) benign	1 lab	5b2c3766aa
6:157256650 ARID1B C>T	6	157256650	157256650	C	T	ARID1B	c.1977C>T	NM_020732.3	NP_065783.3:p.(Pro659=)	NC_000006.11:g.157256650C>T	(Likely) benign	1 lab	5b2dfc0622
22:41547957 EP300 G>A	22	41547957	41547957	G	A	EP300	c.2938G>A	NM_001429.3	NP_001420.2:p.(Ala980Thr)	NC_000022.10:g.41547957G>A	(Likely) benign	1 lab	5b2e43b4ac
1:5924467 NPHP4 G>A	1	5924467	5924467	G	A	NPHP4	c.3927C>T	NM_015102.4	NP_055917.1:p.(Asp1309=)	NC_000001.10:g.5924467G>A	(Likely) benign	1 lab	5b307884ad
6:152793479 SYNE1 C>T	6	152793479	152793479	C	T	SYNE1	c.1420G>A	NM_182961.3	NP_892006.3:p.(Gly474Arg)	NC_000006.11:g.152793479C>T	VUS	1 lab	5b307aa38e
11:121061448 TECTA C>A	11	121061448	121061448	C	A	TECTA	c.6401C>A	NM_005422.2	NP_005413.2:p.(Thr2134Lys)	NC_000011.9:g.121061448C>A	VUS	1 lab	5b314c3070
8:126443396 TRIB1 C>T	8	126443396	126443396	C	T	TRIB1	c.252C>T	NM_025195.4	NP_079471.1:p.(Ser84=)	NC_000008.10:g.126443396C>T	(Likely) benign	1 lab	5b317fa10f
1:150532262 ADAMTSL4 C>T	1	150532262	150532262	C	T	ADAMTSL4	c.3038C>T	NM_001288608.1	NP_001275537.1:p.(Thr1013Met)	NC_000001.10:g.150532262C>T	(Likely) benign	1 lab	5b31fbe04f
9:141016140 CACNA1B G>A	9	141016140	141016140	G	A	CACNA1B	c.6709G>A	NM_000718.3	NP_000709.1:p.(Ala2237Thr)	NC_000009.11:g.141016140G>A	(Likely) benign	1 lab	5b32ebeb43
12:109937514 UBE3B C>G	12	109937514	109937514	C	G	UBE3B	c.1017C>G	NM_130466.3	NP_569733.2:p.(Thr339=)	NC_000012.11:g.109937514C>G	(Likely) benign	1 lab	5b3380893f
9:135786879 TSC1 C>CAA	9	135786879	135786881	C	CAA	TSC1	c.989_990insTT	NM_000368.4	NP_000359.1:p.(Ser331Ter)	NC_000009.11:g.135786880_135786881insAA	(Likely) pathogenic	1 lab	5b348a9cd2
7:4825083 AP5Z1 T>TGTAA	7	4825083	4825089	T	TGTAA	AP5Z1	c.969+3_969+6dup	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4825086_4825089dup	VUS	1 lab	f2c0eb953e
1:64624796 ROR1 C>T	1	64624796	64624796	C	T	ROR1	c.1307C>T	NM_005012.3	NP_005003.2:p.(Ser436Leu)	NC_000001.10:g.64624796C>T	VUS	1 lab	5b365a47ec
16:2105402 TSC2 G>C	16	2105402	2105402	G	C	TSC2	c.482-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105402G>C	(Likely) pathogenic	1 lab	5b36680419
5:171765532 SH3PXD2B G>A	5	171765532	171765532	G	A	SH3PXD2B	c.2577C>T	NM_001017995.2	NP_001017995.1:p.(Ala859=)	NC_000005.9:g.171765532G>A	(Likely) benign	1 lab	5b3671d642
6:1612207 FOXC1 G>C	6	1612207	1612207	G	C	FOXC1	c.1527G>C	NM_001453.3	NP_001444.2:p.(Glu509Asp)	NC_000006.11:g.1612207G>C	VUS	1 lab	5b3ab1864b
8:86180753 CA13 C>G	8	86180753	86180753	C	G	CA13	c.566C>G	NM_198584.3	NP_940986.1:p.(Ser189Cys)	NC_000008.10:g.86180753C>G	(Likely) benign	1 lab	5b3b63091a
10:73567062 CDH23 CAG>C	10	73567062	73567064	CAG	C	CDH23	c.8208_8209del	NM_022124.6	NP_071407.4:p.(Val2737AlafsTer2)	NC_000010.10:g.73567063_73567064del	(Likely) pathogenic	1 lab	5b3e4ac37a
17:18024711 MYO15A C>G	17	18024711	18024711	C	G	MYO15A	c.2597C>G	NM_016239.3	NP_057323.3:p.(Ser866Trp)	NC_000017.10:g.18024711C>G	VUS	1 lab	5b447c7719
3:170185029 SLC7A14 G>A	3	170185029	170185029	G	A	SLC7A14	c.2130C>T	NM_020949.2	NP_066000.2:p.(Tyr710=)	NC_000003.11:g.170185029G>A	(Likely) benign	1 lab	5b44ecb7b4
10:61833286 ANK3 A>G	10	61833286	61833286	A	G	ANK3	c.7353T>C	NM_020987.5	NP_066267.2:p.(Asp2451=)	NC_000010.10:g.61833286A>G	(Likely) benign	1 lab	5b47493592
19:7267615 INSR G>A	19	7267615	7267615	G	A	INSR	c.393C>T	NM_000208.3	NP_000199.2:p.(Leu131=)	NC_000019.9:g.7267615G>A	(Likely) benign	1 lab	5b4826846a
2:112767652 MERTK CT>C	2	112767652	112767653	CT	C	MERTK	c.2079+10del	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112767653del	(Likely) benign	1 lab	5b49b293fe
11:17518331 USH1C G>A	11	17518331	17518331	G	A	USH1C	c.2520C>T	NM_153676.3	NP_710142.1:p.(Cys840=)	NC_000011.9:g.17518331G>A	(Likely) benign	1 lab	5b4a766964
10:102016106 CWF19L1 C>T	10	102016106	102016106	C	T	CWF19L1	c.6G>A	NM_001303405.1	NP_001290334.1:p.(Met2Ile)	NC_000010.10:g.102016106C>T	(Likely) benign	1 lab	5b4d2ea88e
7:33423334 BBS9 C>A	7	33423334	33423334	C	A	BBS9	c.1846C>A	NM_198428.2	NP_940820.1:p.(Leu616Ile)	NC_000007.13:g.33423334C>A	VUS	1 lab	5b4d8daaa9
2:179427879 TTN T>C	2	179427879	179427879	T	C	TTN	c.82980A>G	NM_001267550.1	NP_001254479.1:p.(Leu27660=)	NC_000002.11:g.179427879T>C	(Likely) benign	1 lab	5b4eb3fee5
15:25599713 UBE3A T>A	15	25599713	25599713	T	A	UBE3A	c.2182A>T	NM_130838.1	NP_570853.1:p.(Arg728Ter)	NC_000015.9:g.25599713T>A	(Likely) pathogenic	1 lab	5b4fcdecd7
19:9077315 MUC16 G>A	19	9077315	9077315	G	A	MUC16	c.10131C>T	NM_024690.2	NP_078966.2:p.(Asn3377=)	NC_000019.9:g.9077315G>A	(Likely) benign	1 lab	5b523349e2
X:153629158 RPL10 G>A	X	153629158	153629158	G	A	RPL10	c.608G>A	NM_001303625.1	NP_001290554.1:p.(Arg203His)	NC_000023.10:g.153629158G>A	(Likely) benign	1 lab	5b53e6c8c8
20:61467598 COL9A3 T>A	20	61467598	61467598	T	A	COL9A3	c.1461T>A	NM_001853.4	NP_001844.3:p.(Gly487=)	NC_000020.10:g.61467598T>A	(Likely) benign	1 lab	5b54cce0fb
9:2650395 VLDLR G>A	9	2650395	2650395	G	A	VLDLR	c.2130G>A	NM_003383.4	NP_003374.3:p.(Met710Ile)	NC_000009.11:g.2650395G>A	(Likely) benign	1 lab	5b558e3e27
14:105722725 BRF1 C>T	14	105722725	105722725	C	T	BRF1	c.601G>A	NM_001242790.1	NP_001229719.1:p.(Val201Ile)	NC_000014.8:g.105722725C>T	(Likely) benign	1 lab	5b559588de
1:173915951 RC3H1 C>T	1	173915951	173915951	C	T	RC3H1	c.2761G>A	NM_001300850.1	NP_001287779.1:p.(Gly921Ser)	NC_000001.10:g.173915951C>T	(Likely) benign	1 lab	5b56eee090
1:150531170 ADAMTSL4 C>T	1	150531170	150531170	C	T	ADAMTSL4	c.2604C>T	NM_025008.5	NP_079284.2:p.(His868=)	NC_000001.10:g.150531170C>T	(Likely) benign	1 lab	f2cabac452
15:85403149 ALPK3 C>T	15	85403149	85403149	C	T	ALPK3	c.4699+15C>T	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85403149C>T	(Likely) benign	1 lab	5b57d99fce
6:35773490 LHFPL5 C>T	6	35773490	35773490	C	T	LHFPL5	c.43C>T	NM_182548.4	NP_872354.1:p.(His15Tyr)	NC_000006.11:g.35773490C>T	VUS	1 lab	5b590441cf
5:178418564 GRM6 G>A	5	178418564	178418564	G	A	GRM6	c.722-4C>T	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178418564G>A	(Likely) benign	1 lab	5b59714965
4:980906 IDUA GCGCTCCTGGCCT>G	4	980906	980929	GCGCTCCTGGCCT	G	IDUA	c.46_57del	NM_000203.5	NP_000194.2:p.(Ser16_Ala19del)	NC_000004.11:g.980918_980929del	(Likely) pathogenic	1 lab	5b5ada02bb
3:38595855 SCN5A A>G	3	38595855	38595855	A	G	SCN5A	c.4728T>C	NM_198056.2	NP_932173.1:p.(Ile1576=)	NC_000003.11:g.38595855A>G	(Likely) benign	1 lab	5b5bcd9679
4:151817584 LRBA A>AT	4	151817584	151817586	A	AT	LRBA	c.2028dup	NM_006726.4	NP_006717.2:p.(Leu677IlefsTer6)	NC_000004.11:g.151817586dup	(Likely) pathogenic	1 lab	5b5d33c1b6
22:21369548 P2RX6 A>T	22	21369548	21369548	A	T	P2RX6	c.85A>T	NM_005446.4	NP_005437.2:p.(Lys29Ter)	NC_000022.10:g.21369548A>T	(Likely) benign	1 lab	5b5de04c2f
16:57775651 KATNB1 C>T	16	57775651	57775651	C	T	KATNB1	c.93C>T	NM_005886.2	NP_005877.2:p.(Ala31=)	NC_000016.9:g.57775651C>T	(Likely) benign	1 lab	5b5ef29859
X:152085680 ZNF185 C>T	X	152085680	152085680	C	T	ZNF185	c.230C>T	NM_001178106.1	NP_001171577.1:p.(Pro77Leu)	NC_000023.10:g.152085680C>T	(Likely) benign	1 lab	5b6098f5fa
6:31827819 NEU1 G>A	6	31827819	31827819	G	A	NEU1	c.1021C>T	NM_000434.3	NP_000425.1:p.(Arg341Ter)	NC_000006.11:g.31827819G>A	(Likely) pathogenic	1 lab	5b62b22cb1
11:77924725 USP35 TACATCTCTGCACTCCCC>T	11	77924725	77924749	TACATCTCTGCACTCCCC	T	USP35	c.2931_2947del	NM_020798.4	NP_065849.1:p.(Pro980GlyfsTer5)	NC_000011.9:g.77924733_77924749del	VUS	1 lab	5b630699b2
19:48058849 ZNF541 G>A	19	48058849	48058849	G	A	ZNF541	c.265C>T	NM_001277075.2	NP_001264004.1:p.(Leu89=)	NC_000019.9:g.48058849G>A	(Likely) benign	1 lab	5b631f725e
15:62237904 VPS13C A>T	15	62237904	62237904	A	T	VPS13C	c.5148+10T>A	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62237904A>T	(Likely) benign	1 lab	5b645edadb
X:53280273 IQSEC2 C>A	X	53280273	53280273	C	A	IQSEC2	c.1485G>T	NM_001111125.2	NP_001104595.1:p.(Gln495His)	NC_000023.10:g.53280273C>A	(Likely) benign	1 lab	5b65f74733
20:31015992 ASXL1 C>T	20	31015992	31015992	C	T	ASXL1	c.314C>T	NM_015338.5	NP_056153.2:p.(Thr105Met)	NC_000020.10:g.31015992C>T	VUS	1 lab	5b681c79e0
11:59828769 MS4A3 G>A	11	59828769	59828769	G	A	MS4A3	c.136G>A	NM_006138.5	NP_006129.4:p.(Ala46Thr)	NC_000011.9:g.59828769G>A	(Likely) benign	1 lab	5b6a3ee933
9:94493306 ROR2 C>G	9	94493306	94493306	C	G	ROR2	c.1069G>C	NM_004560.4	NP_004551.2:p.(Glu357Gln)	NC_000009.11:g.94493306C>G	VUS	1 lab	f2ce5e21a4
11:89223707 NOX4 G>C	11	89223707	89223707	G	C	NOX4	c.72C>G	NM_001143836.2	NP_001137308.1:p.(Ser24=)	NC_000011.9:g.89223707G>C	(Likely) benign	1 lab	5b6c1919e4
16:67685298 CARMIL2 C>T	16	67685298	67685298	C	T	CARMIL2	c.2314-6C>T	NM_001013838.2	NP_001013860.1:p.?	NC_000016.9:g.67685298C>T	(Likely) benign	1 lab	5b6c440498
12:111947745 ATXN2 T>C	12	111947745	111947745	T	C	ATXN2	c.2294A>G	NM_002973.3	NP_002964.3:p.(Asn765Ser)	NC_000012.11:g.111947745T>C	VUS	1 lab	5b6d2c2ba9
17:73274393 SLC25A19 G>A	17	73274393	73274393	G	A	SLC25A19	c.483C>T	NM_001126122.1	NP_001119594.1:p.(Ala161=)	NC_000017.10:g.73274393G>A	(Likely) benign	1 lab	5b6e239f04
12:49580101 TUBA1A G>A	12	49580101	49580101	G	A	TUBA1A	c.367C>T	NM_001270399.1	NP_001257328.1:p.(Arg123Cys)	NC_000012.11:g.49580101G>A	(Likely) pathogenic	1 lab	5b6f8089dc
8:56675179 TMEM68 A>C	8	56675179	56675179	A	C	TMEM68	c.340T>G	NM_001286660.1	NP_001273589.1:p.(Phe114Val)	NC_000008.10:g.56675179A>C	VUS	1 lab	5b7129166a
7:70227965 AUTS2 T>C	7	70227965	70227965	T	C	AUTS2	c.852T>C	NM_001127231.2	NP_001120703.1:p.(Cys284=)	NC_000007.13:g.70227965T>C	(Likely) benign	1 lab	5b714006e6
4:113484347 ZGRF1 T>C	4	113484347	113484347	T	C	ZGRF1	c.4522A>G	NM_018392.4	NP_060862.3:p.(Ile1508Val)	NC_000004.11:g.113484347T>C	(Likely) benign	1 lab	5b71fccc9a
X:12734825 FRMPD4 G>A	X	12734825	12734825	G	A	FRMPD4	c.2247G>A	NM_014728.3	NP_055543.2:p.(Glu749=)	NC_000023.10:g.12734825G>A	(Likely) benign	1 lab	5b752f656b
11:1270284 MUC5B C>A	11	1270284	1270284	C	A	MUC5B	c.12174C>A	NM_002458.2	NP_002449.2:p.(Thr4058=)	NC_000011.9:g.1270284C>A	(Likely) benign	1 lab	5b77015c78
10:72358587 PRF1 C>G	10	72358587	72358587	C	G	PRF1	c.890G>C	NM_001083116.1	NP_001076585.1:p.(Arg297Pro)	NC_000010.10:g.72358587C>G	(Likely) benign	1 lab	5b77141a95
1:151384217 POGZ CAGAGT>C	1	151384217	151384227	CAGAGT	C	POGZ	c.1805_1809del	NM_015100.4	NP_055915.2:p.(Tyr602Ter)	NC_000001.10:g.151384223_151384227del	(Likely) pathogenic	1 lab	5b77a38374
6:152809525 SYNE1 C>T	6	152809525	152809525	C	T	SYNE1	c.1047+6G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152809525C>T	(Likely) benign	1 lab	5b7a35775a
1:161641357 FCGR2B CA>C	1	161641357	161641359	CA	C	FCGR2B	c.311del	NM_001394477.1	NP_001381406.1:p.(Asn104ThrfsTer23)	NC_000001.10:g.161641359del	VUS	1 lab	5b7bcd5058
1:201334409 TNNT2 C>T	1	201334409	201334409	C	T	TNNT2	c.291G>A	NM_001276347.1	NP_001263276.1:p.(Lys97=)	NC_000001.10:g.201334409C>T	(Likely) benign	1 lab	5b7c8ade82
X:152482814 MAGEA1 G>A	X	152482814	152482814	G	A	MAGEA1	c.197C>T	NM_004988.4	NP_004979.3:p.(Thr66Ile)	NC_000023.10:g.152482814G>A	(Likely) benign	1 lab	5b7c8e4a21
X:68058603 EFNB1 CAGTTCTCG>GACCAAC	X	68058603	68058611	CAGTTCTCG	GACCAAC	EFNB1	c.272_280delinsGACCAAC	NM_004429.4	NP_004420.1:p.(Thr91ArgfsTer12)	NC_000023.10:g.68058603_68058611delinsGACCAAC	(Likely) pathogenic	1 lab	5b7cd8f4c7
12:40742206 LRRK2 T>C	12	40742206	40742206	T	C	LRRK2	c.6281-5T>C	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40742206T>C	(Likely) benign	1 lab	5b7d63f2ac
17:36485003 GPR179 C>T	17	36485003	36485003	C	T	GPR179	c.4449G>A	NM_001004334.3	NP_001004334.3:p.(Leu1483=)	NC_000017.10:g.36485003C>T	(Likely) benign	1 lab	5b7eecbd02
12:49442972 KMT2D G>A	12	49442972	49442972	G	A	KMT2D	c.3936C>T	NM_003482.3	NP_003473.3:p.(Arg1312=)	NC_000012.11:g.49442972G>A	(Likely) benign	1 lab	5b80935bd1
X:132887999 GPC3 T>C	X	132887999	132887999	T	C	GPC3	c.542A>G	NM_001164617.1	NP_001158089.1:p.(Gln181Arg)	NC_000023.10:g.132887999T>C	(Likely) benign	1 lab	5b8174f440
1:240371409 FMN2 G>T	1	240371409	240371409	G	T	FMN2	c.3297G>T	NM_020066.5	NP_064450.3:p.(Pro1099=)	NC_000001.10:g.240371409G>T	(Likely) benign	1 lab	5b81b171e0
11:19955110 NAV2 G>A	11	19955110	19955110	G	A	NAV2	c.1389G>A	NM_001244963.1	NP_001231892.1:p.(Glu463=)	NC_000011.9:g.19955110G>A	(Likely) benign	1 lab	5b82767bf4
11:126142984 FOXRED1 A>G	11	126142984	126142984	A	G	FOXRED1	c.417+10A>G	NM_017547.3	NP_060017.1:p.?	NC_000011.9:g.126142984A>G	(Likely) benign	1 lab	5b83e6f1fb
20:61943400 COL20A1 C>T	20	61943400	61943400	C	T	COL20A1	c.1796C>T	NM_020882.2	NP_065933.2:p.(Ser599Leu)	NC_000020.10:g.61943400C>T	(Likely) benign	1 lab	5b83eb06e2
X:154028019 MPP1 C>A	X	154028019	154028019	C	A	MPP1	c.12+1G>T	NM_001166462.1	NP_001159934.1:p.?	NC_000023.10:g.154028019C>A	VUS	1 lab	5b84e4938b
5:122425842 PRDM6 A>G	5	122425842	122425842	A	G	PRDM6	c.133A>G	NM_001136239.3	NP_001129711.1:p.(Ser45Gly)	NC_000005.9:g.122425842A>G	(Likely) benign	1 lab	5b8619e33d
X:3242766 MXRA5 C>T	X	3242766	3242766	C	T	MXRA5	c.960G>A	NM_015419.3	NP_056234.2:p.(Leu320=)	NC_000023.10:g.3242766C>T	(Likely) benign	1 lab	5b87d5419d
17:76523083 DNAH17 G>A	17	76523083	76523083	G	A	DNAH17	c.3508-5C>T	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76523083G>A	(Likely) benign	1 lab	5b88f3e539
8:144995850 PLEC G>A	8	144995850	144995850	G	A	PLEC	c.8550C>T	NM_201380.3	NP_958782.1:p.(Tyr2850=)	NC_000008.10:g.144995850G>A	(Likely) benign	1 lab	5b8956e0e3
9:37784823 EXOSC3 G>T	9	37784823	37784823	G	T	EXOSC3	c.219C>A	NM_016042.3	NP_057126.2:p.(Arg73=)	NC_000009.11:g.37784823G>T	(Likely) benign	1 lab	5b8a79bd65
7:66098262 KCTD7 T>C	7	66098262	66098262	T	C	KCTD7	c.145T>C	NM_153033.4	NP_694578.1:p.(Phe49Leu)	NC_000007.13:g.66098262T>C	(Likely) benign	1 lab	5b8a9e9c1b
6:13307910 TBC1D7 G>A	6	13307910	13307910	G	A	TBC1D7	c.587C>T	NM_016495.5	NP_057579.1:p.(Ser196Phe)	NC_000006.11:g.13307910G>A	VUS	1 lab	5b8bcd4337
6:117632261 ROS1 G>T	6	117632261	117632261	G	T	ROS1	c.6155C>A	NM_002944.2	NP_002935.2:p.(Thr2052Asn)	NC_000006.11:g.117632261G>T	VUS	1 lab	5b8c208510
X:48544158 WAS C>T	X	48544158	48544158	C	T	WAS	c.396C>T	NM_000377.2	NP_000368.1:p.(Asp132=)	NC_000023.10:g.48544158C>T	(Likely) benign	1 lab	5b8f2f6f3d
9:124080963 GSN C>T	9	124080963	124080963	C	T	GSN	c.996C>T	NM_001353053.1	NP_001339982.1:p.(Gly332=)	NC_000009.11:g.124080963C>T	VUS	1 lab	5b8f9aaa16
7:103155951 RELN A>AAAG	7	103155951	103155955	A	AAAG	RELN	c.7863-66_7863-64dup	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103155953_103155955dup	(Likely) benign	1 lab	5b90d994db
6:56483956 DST G>A	6	56483956	56483956	G	A	DST	c.4876C>T	NM_001723.5	NP_001714.1:p.(Arg1626Cys)	NC_000006.11:g.56483956G>A	VUS	1 lab	5b91bcc0c8
1:949682 ISG15 A>T	1	949682	949682	A	T	ISG15	c.322A>T	NM_005101.4	NP_005092.1:p.(Lys108Ter)	NC_000001.10:g.949682A>T	(Likely) pathogenic	1 lab	f2d6e52f97
21:45817703 TRPM2 C>T	21	45817703	45817703	C	T	TRPM2	c.2006C>T	NM_001320350.1	NP_001307279.1:p.(Thr669Met)	NC_000021.8:g.45817703C>T	VUS	1 lab	5b9295b50f
9:79910464 VPS13A A>G	9	79910464	79910464	A	G	VPS13A	c.3514A>G	NM_033305.2	NP_150648.2:p.(Ile1172Val)	NC_000009.11:g.79910464A>G	(Likely) benign	1 lab	5b9305c3d3
12:49437990 KMT2D G>A	12	49437990	49437990	G	A	KMT2D	c.5181C>T	NM_003482.3	NP_003473.3:p.(Pro1727=)	NC_000012.11:g.49437990G>A	(Likely) benign	1 lab	5b93433981
5:7878160 MTRR G>A	5	7878160	7878160	G	A	MTRR	c.505G>A	NM_002454.2	NP_002445.2:p.(Val169Met)	NC_000005.9:g.7878160G>A	(Likely) benign	1 lab	5b935c404c
1:6500872 ESPN A>C	1	6500872	6500872	A	C	ESPN	c.858+4A>C	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6500872A>C	VUS	1 lab	5b94b0f4b2
9:32633118 TAF1L C>A	9	32633118	32633118	C	A	TAF1L	c.2460G>T	NM_153809.2	NP_722516.1:p.(Met820Ile)	NC_000009.11:g.32633118C>A	VUS	1 lab	5b9639c602
7:100636408 MUC12 G>A	7	100636408	100636408	G	A	MUC12	c.2564G>A	NM_001164462.1	NP_001157934.1:p.(Arg855His)	NC_000007.13:g.100636408G>A	(Likely) benign	1 lab	5b983d7e56
2:191161686 HIBCH A>G	2	191161686	191161686	A	G	HIBCH	c.79-7T>C	NM_014362.3	NP_055177.2:p.?	NC_000002.11:g.191161686A>G	(Likely) benign	1 lab	5b99463568
X:10090717 WWC3 C>T	X	10090717	10090717	C	T	WWC3	c.1689C>T	NM_015691.3	NP_056506.2:p.(Ser563=)	NC_000023.10:g.10090717C>T	(Likely) benign	1 lab	5b9a0623cf
3:39142543 GORASP1 T>G	3	39142543	39142543	T	G	GORASP1	c.399A>C	NM_031899.3	NP_114105.1:p.(Thr133=)	NC_000003.11:g.39142543T>G	(Likely) benign	1 lab	5b9a8fe66a
11:6647792 DCHS1 G>T	11	6647792	6647792	G	T	DCHS1				NC_000011.9:g.6647792G>T	(Likely) benign	1 lab	5b9d351dc4
6:32009814 TNXB G>T	6	32009814	32009814	G	T	TNXB	c.12438C>A	NM_019105.6	NP_061978.6:p.(His4146Gln)	NC_000006.11:g.32009814G>T	VUS	1 lab	5b9decd0e0
18:43519717 EPG5 T>C	18	43519717	43519717	T	C	EPG5	c.1948A>G	NM_020964.3	NP_066015.2:p.(Thr650Ala)	NC_000018.9:g.43519717T>C	VUS	1 lab	5ba14424e8
16:89611118 SPG7 G>C	16	89611118	89611118	G	C	SPG7	c.1387G>C	NM_003119.3	NP_003110.1:p.(Gly463Arg)	NC_000016.9:g.89611118G>C	(Likely) benign	1 lab	5ba1994e38
X:54069217 PHF8 G>A	X	54069217	54069217	G	A	PHF8	c.53C>T	NM_001184896.1	NP_001171825.1:p.(Ala18Val)	NC_000023.10:g.54069217G>A	(Likely) benign	1 lab	5ba2d5878c
11:17600059 OTOG C>T	11	17600059	17600059	C	T	OTOG	c.2781C>T	NM_001277269.1	NP_001264198.1:p.(Cys927=)	NC_000011.9:g.17600059C>T	(Likely) benign	1 lab	5ba4e563ea
16:89704105 DPEP1 G>T	16	89704105	89704105	G	T	DPEP1	c.919G>T	NM_004413.3	NP_004404.1:p.(Gly307Cys)	NC_000016.9:g.89704105G>T	VUS	1 lab	5ba5fde524
9:135776218 TSC1 T>TTG	9	135776218	135776220	T	TTG	TSC1	c.2507_2508dup	NM_000368.4	NP_000359.1:p.(Asn837GlnfsTer13)	NC_000009.11:g.135776219_135776220dup	(Likely) pathogenic	1 lab	5ba7b0c4c1
1:152281970 FLG G>A	1	152281970	152281970	G	A	FLG	c.5392C>T	NM_002016.1	NP_002007.1:p.(Arg1798Ter)	NC_000001.10:g.152281970G>A	(Likely) pathogenic	1 lab	5ba98ab35c
4:126328128 FAT4 C>T	4	126328128	126328128	C	T	FAT4	c.5401C>T	NM_001291303.1	NP_001278232.1:p.(Arg1801Trp)	NC_000004.11:g.126328128C>T	VUS	1 lab	5baa906656
16:18532283 NOMO2 C>T	16	18532283	18532283	C	T	NOMO2	c.2077G>A	NM_173614.2	NP_775885.1:p.(Ala693Thr)	NC_000016.9:g.18532283C>T	VUS	1 lab	5bac037c08
8:6303028 MCPH1 T>C	8	6303028	6303028	T	C	MCPH1	c.1785T>C	NM_001322042.1	NP_001308971.1:p.(Ser595=)	NC_000008.10:g.6303028T>C	(Likely) benign	1 lab	5bad4b5fbd
22:46777936 CELSR1 G>T	22	46777936	46777936	G	T	CELSR1	c.6895C>A	NM_014246.1	NP_055061.1:p.(Leu2299Met)	NC_000022.10:g.46777936G>T	(Likely) benign	1 lab	5bad9d14ab
14:88459444 GALC C>T	14	88459444	88459444	C	T	GALC	c.65G>A	NM_000153.3	NP_000144.2:p.(Gly22Asp)	NC_000014.8:g.88459444C>T	(Likely) benign	1 lab	5badd80d3b
20:3007379 PTPRA A>G	20	3007379	3007379	A	G	PTPRA	c.1661A>G	NM_002836.3	NP_002827.1:p.(Asn554Ser)	NC_000020.10:g.3007379A>G	VUS	1 lab	5baed83feb
16:24922815 SLC5A11 C>T	16	24922815	24922815	C	T	SLC5A11	c.1884C>T	NM_001258411.2	NP_001245340.1:p.(Cys628=)	NC_000016.9:g.24922815C>T	(Likely) benign	1 lab	5bb09f1c1f
X:8434201 VCX3B C>T	X	8434201	8434201	C	T	VCX3B	c.518C>T	NM_001001888.3	NP_001001888.3:p.(Pro173Leu)	NC_000023.10:g.8434201C>T	(Likely) benign	1 lab	5bb0bb2465
7:103141225 RELN T>C	7	103141225	103141225	T	C	RELN	c.8634A>G	NM_005045.3	NP_005036.2:p.(Ser2878=)	NC_000007.13:g.103141225T>C	(Likely) benign	1 lab	5bb2b1ad0e
8:90777643 RIPK2 C>T	8	90777643	90777643	C	T	RIPK2	c.402C>T	NM_003821.5	NP_003812.1:p.(Tyr134=)	NC_000008.10:g.90777643C>T	(Likely) benign	1 lab	5bb56576a8
17:72920775 OTOP2 G>A	17	72920775	72920775	G	A	OTOP2	c.48G>A	NM_178160.2	NP_835454.1:p.(Pro16=)	NC_000017.10:g.72920775G>A	(Likely) benign	1 lab	5bb7c5bc3a
21:19666901 TMPRSS15 T>A	21	19666901	19666901	T	A	TMPRSS15	c.2311+19A>T	NM_002772.3	NP_002763.3:p.?	NC_000021.8:g.19666901T>A	(Likely) benign	1 lab	f2dafa2215
4:187004056 TLR3 C>T	4	187004056	187004056	C	T	TLR3	c.1216C>T	NM_003265.2	NP_003256.1:p.(His406Tyr)	NC_000004.11:g.187004056C>T	(Likely) benign	1 lab	5bb8c15027
22:38026176 GGA1 T>A	22	38026176	38026176	T	A	GGA1	c.1381T>A	NM_001363771.1	NP_001350700.1:p.(Trp461Arg)	NC_000022.10:g.38026176T>A	VUS	1 lab	5bbb4ded09
7:42018348 GLI3 C>G	7	42018348	42018348	C	G	GLI3	c.1498-1G>C	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42018348C>G	(Likely) pathogenic	1 lab	5bbbdd9af5
6:7229537 RREB1 A>G	6	7229537	7229537	A	G	RREB1	c.1205A>G	NM_001003699.4	NP_001003699.1:p.(Gln402Arg)	NC_000006.11:g.7229537A>G	VUS	1 lab	f2dba0cd19
16:2136214 TSC2 C>T	16	2136214	2136214	C	T	TSC2	c.4614C>T	NM_001114382.2	NP_001107854.1:p.(Ile1538=)	NC_000016.9:g.2136214C>T	(Likely) benign	1 lab	5bbf3d3c4d
1:22181354 HSPG2 CA>C	1	22181354	22181355	CA	C	HSPG2	c.6119del	NM_005529.7	NP_005520.4:p.(Val2040GlyfsTer23)	NC_000001.10:g.22181355del	(Likely) pathogenic	1 lab	5bbf9fb132
7:117180287 CFTR A>C	7	117180287	117180287	A	C	CFTR	c.1003A>C	NM_000492.3	NP_000483.3:p.(Lys335Gln)	NC_000007.13:g.117180287A>C	(Likely) benign	1 lab	5bbfe5f51d
X:150156263 HMGB3 A>T	X	150156263	150156263	A	T	HMGB3	c.479A>T	NM_001301228.1	NP_001288157.1:p.(Tyr160Phe)	NC_000023.10:g.150156263A>T	VUS	1 lab	5bc07df045
X:127185876 ACTRT1 GTT>G	X	127185876	127185878	GTT	G	ACTRT1	c.308_309del	NM_138289.4	NP_612146.1:p.(Gln103ProfsTer13)	NC_000023.10:g.127185877_127185878del	VUS	1 lab	5bc0c372d1
16:2108847 TSC2 G>GAT	16	2108847	2108849	G	GAT	TSC2	c.949_950insTA	NM_000548.3	NP_000539.2:p.(Thr317IlefsTer47)	NC_000016.9:g.2108848_2108849insTA	(Likely) pathogenic	1 lab	5bc1284ca4
4:128807717 PLK4 C>T	4	128807717	128807717	C	T	PLK4	c.1192C>T	NM_014264.4	NP_055079.3:p.(Arg398Ter)	NC_000004.11:g.128807717C>T	(Likely) pathogenic	1 lab	5bc18fc1b1
X:50378005 SHROOM4 C>A	X	50378005	50378005	C	A	SHROOM4	c.1068G>T	NM_020717.3	NP_065768.2:p.(Glu356Asp)	NC_000023.10:g.50378005C>A	(Likely) benign	1 lab	5bc363fc98
12:80714288 OTOGL T>A	12	80714288	80714288	T	A	OTOGL	c.3862T>A	NM_173591.3	NP_775862.3:p.(Trp1288Arg)	NC_000012.11:g.80714288T>A	(Likely) benign	1 lab	5bc3dfc30f
X:151303774 MAGEA10 C>T	X	151303774	151303774	C	T	MAGEA10	c.319G>A	NM_001011543.2	NP_001011543.2:p.(Glu107Lys)	NC_000023.10:g.151303774C>T	VUS	1 lab	5bc4859daa
8:94935733 PDP1 C>T	8	94935733	94935733	C	T	PDP1	c.1521C>T	NM_001161779.1	NP_001155251.1:p.(Leu507=)	NC_000008.10:g.94935733C>T	(Likely) benign	1 lab	5bc532611a
16:27751382 KATNIP G>A	16	27751382	27751382	G	A	KATNIP	c.1764G>A	NM_015202.3	NP_056017.3:p.(Lys588=)	NC_000016.9:g.27751382G>A	(Likely) benign	1 lab	5bc5cfae96
20:40079594 CHD6 G>C	20	40079594	40079594	G	C	CHD6	c.3675C>G	NM_032221.5	NP_115597.3:p.(His1225Gln)	NC_000020.10:g.40079594G>C	VUS	1 lab	f2dbe3669a
6:84922727 CEP162 T>C	6	84922727	84922727	T	C	CEP162	c.519A>G	NM_014895.4	NP_055710.2:p.(Ala173=)	NC_000006.11:g.84922727T>C	(Likely) benign	1 lab	5bc7bf7ae5
10:16975078 CUBN G>A	10	16975078	16975078	G	A	CUBN	c.6124+8C>T	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.16975078G>A	(Likely) benign	1 lab	f2dc2fd096
6:16327864 ATXN1 GTGCTGCTGCTGC>G	6	16327864	16327908	GTGCTGCTGCTGC	G	ATXN1	c.666_677del	NM_001128164.2	NP_001121636.1:p.(Gln222_Gln225del)	NC_000006.11:g.16327897_16327908del	VUS	1 lab	5bc850bd1c
1:94526218 ABCA4 C>T	1	94526218	94526218	C	T	ABCA4	c.2035G>A	NM_000350.2	NP_000341.2:p.(Glu679Lys)	NC_000001.10:g.94526218C>T	VUS	1 lab	5bc95554f7
X:49834528 CLCN5 A>T	X	49834528	49834528	A	T	CLCN5	c.164-6A>T	NM_001127899.3	NP_001121371.1:p.?	NC_000023.10:g.49834528A>T	(Likely) benign	1 lab	5bca980efd
X:32404540 DMD T>C	X	32404540	32404540	T	C	DMD	c.4192A>G	NM_004010.3	NP_004001.1:p.(Met1398Val)	NC_000023.10:g.32404540T>C	(Likely) benign	1 lab	5bcfe1c303
7:92730738 SAMD9 A>T	7	92730738	92730738	A	T	SAMD9	c.4673T>A	NM_017654.3	NP_060124.2:p.(Leu1558Ter)	NC_000007.13:g.92730738A>T	VUS	1 lab	5bd3e5f386
17:29556173 NF1 T>G	17	29556173	29556173	T	G	NF1	c.2540T>G	NM_000267.3	NP_000258.1:p.(Leu847Arg)	NC_000017.10:g.29556173T>G	VUS	1 lab	5bd5615751
16:1561125 IFT140 C>A	16	1561125	1561125	C	A	IFT140	c.4209G>T	NM_014714.3	NP_055529.2:p.(Arg1403=)	NC_000016.9:g.1561125C>A	(Likely) benign	1 lab	5bdad9e1cb
5:70798567 BDP1 A>G	5	70798567	70798567	A	G	BDP1	c.2190A>G	NM_018429.2	NP_060899.2:p.(Glu730=)	NC_000005.9:g.70798567A>G	(Likely) benign	1 lab	5bde8de6ff
3:15685920 BTD G>A	3	15685920	15685920	G	A	BTD	c.557G>A	NM_000060.4	NP_000051.1:p.(Cys186Tyr)	NC_000003.11:g.15685920G>A	(Likely) pathogenic	1 lab	5bdfc69832
12:115112226 TBX3 G>A	12	115112226	115112226	G	A	TBX3	c.1514C>T	NM_016569.3	NP_057653.3:p.(Pro505Leu)	NC_000012.11:g.115112226G>A	VUS	1 lab	5be04258e0
X:105280866 SERPINA7 G>A	X	105280866	105280866	G	A	SERPINA7	c.184C>T	NM_000354.5	NP_000345.2:p.(Pro62Ser)	NC_000023.10:g.105280866G>A	VUS	1 lab	5be089d4fb
5:5463038 ICE1 T>C	5	5463038	5463038	T	C	ICE1	c.3591T>C	NM_015325.3	NP_056140.1:p.(Ser1197=)	NC_000005.9:g.5463038T>C	(Likely) benign	1 lab	5be0f0a4f2
X:76907799 ATRX TTCC>T	X	76907799	76907810	TTCC	T	ATRX	c.4359_4361del	NM_000489.6	NP_000480.3:p.(Glu1464del)	NC_000023.10:g.76907808_76907810del	VUS	1 lab	5be170e8fc
17:29667569 NF1 T>C	17	29667569	29667569	T	C	NF1	c.6905T>C	NM_000267.3	NP_000258.1:p.(Leu2302Pro)	NC_000017.10:g.29667569T>C	VUS	1 lab	5be215079f
X:148069011 AFF2 C>T	X	148069011	148069011	C	T	AFF2	c.3738C>T	NM_002025.3	NP_002016.2:p.(His1246=)	NC_000023.10:g.148069011C>T	(Likely) benign	1 lab	5be2643e20
8:145699936 FOXH1 A>G	8	145699936	145699936	A	G	FOXH1	c.783T>C	NM_003923.2	NP_003914.1:p.(Pro261=)	NC_000008.10:g.145699936A>G	(Likely) benign	1 lab	5be33b98b3
8:22033703 BMP1 C>T	8	22033703	22033703	C	T	BMP1	c.310C>T	NM_006129.4	NP_006120.1:p.(Pro104Ser)	NC_000008.10:g.22033703C>T	(Likely) benign	1 lab	5be3423d85
19:7166388 INSR G>A	19	7166388	7166388	G	A	INSR	c.1638C>T	NM_000208.4	NP_000199.2:p.(Asp546=)	NC_000019.9:g.7166388G>A	(Likely) benign	1 lab	f2dd16ef24
10:55582205 PCDH15 CAGGAGGAGGAGA>C	10	55582205	55582225	CAGGAGGAGGAGA	C	PCDH15	c.4368-2227_4368-2216del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55582214_55582225del	VUS	1 lab	5be6145bdb
2:61415467 USP34 T>C	2	61415467	61415467	T	C	USP34	c.10411A>G	NM_014709.3	NP_055524.3:p.(Thr3471Ala)	NC_000002.11:g.61415467T>C	(Likely) benign	1 lab	5be7250f4d
9:135802651 TSC1 GT>G	9	135802651	135802652	GT	G	TSC1	c.146del	NM_000368.5	NP_000359.1:p.(Tyr49SerfsTer13)	NC_000009.11:g.135802652del	(Likely) pathogenic	1 lab	5be74e4c24
2:220285068 DES G>A	2	220285068	220285068	G	A	DES	c.735G>A	NM_001927.4	NP_001918.3:p.(Glu245=)	NC_000002.11:g.220285068G>A	VUS	1 lab	f2ddee2ba7
3:132241705 DNAJC13 G>A	3	132241705	132241705	G	A	DNAJC13	c.5707G>A	NM_015268.4	NP_056083.3:p.(Val1903Ile)	NC_000003.11:g.132241705G>A	(Likely) benign	1 lab	5be9e7f98e
1:154569626 ADAR C>T	1	154569626	154569626	C	T	ADAR	c.1167G>A	NM_001193495.2	NP_001180424.1:p.(Ala389=)	NC_000001.10:g.154569626C>T	(Likely) benign	1 lab	5beb70e4ed
14:23900811 MYH7 C>T	14	23900811	23900811	C	T	MYH7	c.715G>A	NM_000257.2	NP_000248.2:p.(Asp239Asn)	NC_000014.8:g.23900811C>T	(Likely) pathogenic	1 lab	5beb8e25b8
17:43528120 PLEKHM1 C>T	17	43528120	43528120	C	T	PLEKHM1	c.2507G>A	NM_014798.2	NP_055613.1:p.(Arg836Gln)	NC_000017.10:g.43528120C>T	(Likely) benign	1 lab	5bebc5ddc1
10:112581040 RBM20 A>T	10	112581040	112581040	A	T	RBM20	c.2663A>T	NM_001134363.1	NP_001127835.1:p.(Asp888Val)	NC_000010.10:g.112581040A>T	VUS	1 lab	5bec60cd54
17:29588827 NF1 G>A	17	29588827	29588827	G	A	NF1	c.4613G>A	NM_000267.3	NP_000258.1:p.(Trp1538Ter)	NC_000017.10:g.29588827G>A	(Likely) pathogenic	1 lab	5bed1261da
8:145742577 RECQL4 G>A	8	145742577	145742577	G	A	RECQL4	c.214-3C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145742577G>A	(Likely) benign	1 lab	f2e1441038
1:156124389 SEMA4A G>A	1	156124389	156124389	G	A	SEMA4A	c.20G>A	NM_022367.4	NP_071762.2:p.(Gly7Asp)	NC_000001.10:g.156124389G>A	VUS	1 lab	5bee2d5df5
5:138286989 SIL1 G>A	5	138286989	138286989	G	A	SIL1	c.900C>T	NM_001037633.1	NP_001032722.1:p.(Phe300=)	NC_000005.9:g.138286989G>A	(Likely) benign	1 lab	5bf142108d
20:17639670 MISSING C>A	20	17639670	17639670	C	A	MISSING				NC_000020.10:g.17639670C>A	(Likely) benign	1 lab	5bf357cd90
6:7584592 DSP G>A	6	7584592	7584592	G	A	DSP	c.7097G>A	NM_004415.4	NP_004406.2:p.(Arg2366His)	NC_000006.11:g.7584592G>A	(Likely) pathogenic	1 lab	f2e218428c
15:101717914 CHSY1 C>T	15	101717914	101717914	C	T	CHSY1	c.2088G>A	NM_014918.4	NP_055733.2:p.(Thr696=)	NC_000015.9:g.101717914C>T	(Likely) benign	1 lab	5bf395d5e1
15:28459227 HERC2 C>T	15	28459227	28459227	C	T	HERC2	c.6550G>A	NM_004667.5	NP_004658.3:p.(Glu2184Lys)	NC_000015.9:g.28459227C>T	(Likely) benign	1 lab	5bf7ebf0d4
13:115091219 CHAMP1 T>C	13	115091219	115091219	T	C	CHAMP1	c.1902T>C	NM_032436.3	NP_115812.1:p.(Ser634=)	NC_000013.10:g.115091219T>C	(Likely) benign	1 lab	5bf8dc8b0e
16:89836385 FANCA G>A	16	89836385	89836385	G	A	FANCA	c.2364C>T	NM_001286167.2	NP_001273096.1:p.(Ala788=)	NC_000016.9:g.89836385G>A	(Likely) benign	1 lab	5bfb2f5abc
1:216370046 USH2A G>A	1	216370046	216370046	G	A	USH2A	c.4100C>T	NM_206933.2	NP_996816.2:p.(Pro1367Leu)	NC_000001.10:g.216370046G>A	VUS	1 lab	5bfe7c721d
10:1123920 WDR37 A>G	10	1123920	1123920	A	G	WDR37	c.212A>G	NM_014023.4	NP_054742.2:p.(Asn71Ser)	NC_000010.10:g.1123920A>G	(Likely) benign	1 lab	f2e698457d
3:160137252 SMC4 A>G	3	160137252	160137252	A	G	SMC4	c.1778A>G	NM_001002800.2	NP_001002800.1:p.(Asn593Ser)	NC_000003.11:g.160137252A>G	(Likely) benign	1 lab	5c02d990f3
X:24329665 SUPT20HL2 A>T	X	24329665	24329665	A	T	SUPT20HL2	c.1846T>A	NM_001136233.2	NP_001129705.2:p.(Cys616Ser)	NC_000023.10:g.24329665A>T	(Likely) benign	1 lab	5c02df144d
16:84205904 DNAAF1 G>A	16	84205904	84205904	G	A	DNAAF1	c.1567G>A	NM_178452.5	NP_848547.4:p.(Val523Ile)	NC_000016.9:g.84205904G>A	(Likely) benign	1 lab	5c034bdaef
17:2238072 TSR1 AGTGTCTAAC>A	17	2238072	2238081	AGTGTCTAAC	A	TSR1	c.666_674del	NM_018128.5	NP_060598.3:p.(Leu222_Thr225delinsPhe)	NC_000017.10:g.2238073_2238081del	VUS	1 lab	5c03f3a9d1
10:88426614 LDB3 TC>T	10	88426614	88426619	TC	T	LDB3	c.-24+14del	NM_001368064.1	NP_001354993.1:p.?	NC_000010.10:g.88426619del	(Likely) benign	1 lab	f2e92e80a4
17:44087784 MAPT C>T	17	44087784	44087784	C	T	MAPT	c.915+16C>T	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44087784C>T	(Likely) pathogenic	1 lab	5c05e61723
9:77377861 TRPM6 C>T	9	77377861	77377861	C	T	TRPM6	c.3726G>A	NM_017662.4	NP_060132.3:p.(Lys1242=)	NC_000009.11:g.77377861C>T	(Likely) benign	1 lab	5c06f11159
17:29557281 NF1 TG>T	17	29557281	29557282	TG	T	NF1	c.2995del	NM_001042492.3	NP_001035957.1:p.(Val999PhefsTer13)	NC_000017.10:g.29557282del	(Likely) pathogenic	1 lab	5c0997619f
19:10247973 DNMT1 GGC>TGG	19	10247973	10247975	GGC	TGG	DNMT1	c.4294-19_4294-17delinsCCA	NM_001130823.1	NP_001124295.1:p.?	NC_000019.9:g.10247973_10247975delinsTGG	(Likely) benign	1 lab	5c0a88fa14
5:176696709 NSD1 T>G	5	176696709	176696709	T	G	NSD1	c.5410T>G	NM_022455.4	NP_071900.2:p.(Tyr1804Asp)	NC_000005.9:g.176696709T>G	(Likely) pathogenic	1 lab	5c0d132303
17:78187720 SGSH ACAG>GC	17	78187720	78187723	ACAG	GC	SGSH	c.664-39_664-36delinsGC	NM_000199.4	NP_000190.1:p.?	NC_000017.10:g.78187720_78187723delinsGC	(Likely) benign	1 lab	5c0d94ecff
20:57429873 GNAS C>T	20	57429873	57429873	C	T	GNAS	c.1553C>T	NM_080425.3	NP_536350.2:p.(Pro518Leu)	NC_000020.10:g.57429873C>T	VUS	1 lab	5c0e984f87
12:57435208 MYO1A AC>A	12	57435208	57435209	AC	A	MYO1A	c.1164+7del	NM_005379.4	NP_005370.1:p.?	NC_000012.11:g.57435209del	(Likely) benign	1 lab	5c0eb3cf33
12:2721098 CACNA1C C>T	12	2721098	2721098	C	T	CACNA1C	c.3807C>T	NM_199460.3	NP_955630.3:p.(Ile1269=)	NC_000012.11:g.2721098C>T	(Likely) benign	1 lab	5c11f37243
6:33153539 COL11A2 TAG>T	6	33153539	33153546	TAG	T	COL11A2	c.813_814del	NM_080680.3	NP_542411.2:p.(Tyr272LeufsTer2)	NC_000006.11:g.33153545_33153546del	(Likely) pathogenic	1 lab	5c147e7eb5
10:127434378 EDRF1 ATGCCGCCCTTT>A	10	127434378	127434390	ATGCCGCCCTTT	A	EDRF1	c.2695_2705del	NM_001202438.2	NP_001189367.1:p.(Ala899IlefsTer3)	NC_000010.10:g.127434380_127434390del	VUS	1 lab	5c14f05d77
5:14406743 TRIO G>A	5	14406743	14406743	G	A	TRIO	c.4921G>A	NM_007118.3	NP_009049.2:p.(Ala1641Thr)	NC_000005.9:g.14406743G>A	VUS	1 lab	5c1c02cbac
18:29078209 DSG2 G>A	18	29078209	29078209	G	A	DSG2	c.-6G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29078209G>A	VUS	1 lab	5c1fdb700c
9:13183546 MPDZ T>C	9	13183546	13183546	T	C	MPDZ	c.2520A>G	NM_003829.4	NP_003820.2:p.(Thr840=)	NC_000009.11:g.13183546T>C	(Likely) benign	1 lab	5c2073fa54
X:153219097 HCFC1 G>C	X	153219097	153219097	G	C	HCFC1	c.4458C>G	NM_005334.2	NP_005325.2:p.(Thr1486=)	NC_000023.10:g.153219097G>C	(Likely) benign	1 lab	5c21262141
20:18374917 DZANK1 G>T	20	18374917	18374917	G	T	DZANK1	c.1689C>A	NM_001099407.1	NP_001092877.1:p.(Cys563Ter)	NC_000020.10:g.18374917G>T	VUS	1 lab	5c218cfea7
7:107204433 COG5 A>G	7	107204433	107204433	A	G	COG5	c.2T>C	NM_001161520.1	NP_001154992.1:p.(Met1?)	NC_000007.13:g.107204433A>G	VUS	1 lab	5c219b22ac
14:64911444 MTHFD1 A>G	14	64911444	64911444	A	G	MTHFD1	c.2170A>G	NM_005956.4	NP_005947.3:p.(Ile724Val)	NC_000014.8:g.64911444A>G	(Likely) benign	1 lab	5c21e93be4
2:179416483 TTN T>C	2	179416483	179416483	T	C	TTN	c.91144A>G	NM_001267550.1	NP_001254479.1:p.(Arg30382Gly)	NC_000002.11:g.179416483T>C	VUS	1 lab	5c23e37ccd
2:202025159 CFLAR T>G	2	202025159	202025159	T	G	CFLAR	c.798T>G	NM_001351590.1	NP_001338519.1:p.(Leu266=)	NC_000002.11:g.202025159T>G	(Likely) benign	1 lab	5c24296cf7
12:91449931 KERA G>T	12	91449931	91449931	G	T	KERA	c.128C>A	NM_007035.3	NP_008966.1:p.(Pro43His)	NC_000012.11:g.91449931G>T	VUS	1 lab	5c24da49aa
11:88911446 TYR G>A	11	88911446	88911446	G	A	TYR	c.325G>A	NM_000372.4	NP_000363.1:p.(Gly109Arg)	NC_000011.9:g.88911446G>A	(Likely) pathogenic	1 lab	5c25f03e7e
9:139329323 INPP5E G>A	9	139329323	139329323	G	A	INPP5E	c.813-8C>T	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139329323G>A	(Likely) benign	1 lab	5c263acbbf
17:29556472 NF1 TCC>T	17	29556472	29556475	TCC	T	NF1	c.2841_2842del	NM_001042492.3	NP_001035957.1:p.(Gln948ArgfsTer7)	NC_000017.10:g.29556474_29556475del	(Likely) pathogenic	1 lab	5c26b93bf5
7:65551762 ASL C>A	7	65551762	65551762	C	A	ASL	c.556C>A	NM_001024943.1	NP_001020114.1:p.(Arg186=)	NC_000007.13:g.65551762C>A	(Likely) benign	1 lab	5c27778f42
16:66946009 CDH16 A>C	16	66946009	66946009	A	C	CDH16	c.1583T>G	NM_004062.4	NP_004053.1:p.(Val528Gly)	NC_000016.9:g.66946009A>C	VUS	1 lab	5c29dc6692
8:61654248 CHD7 C>T	8	61654248	61654248	C	T	CHD7				NC_000008.10:g.61654248C>T	VUS	1 lab	5c2a96b2a2
14:65268070 SPTB G>A	14	65268070	65268070	G	A	SPTB	c.696C>T	NM_001024858.3	NP_001020029.1:p.(His232=)	NC_000014.8:g.65268070G>A	(Likely) benign	1 lab	5c2aa5b6c5
10:61833862 ANK3 G>A	10	61833862	61833862	G	A	ANK3	c.6777C>T	NM_020987.5	NP_066267.2:p.(Gly2259=)	NC_000010.10:g.61833862G>A	(Likely) benign	1 lab	5c2acd7ae9
19:36496291 SYNE4 C>G	19	36496291	36496291	C	G	SYNE4	c.916G>C	NM_001039876.2	NP_001034965.1:p.(Gly306Arg)	NC_000019.9:g.36496291C>G	(Likely) benign	1 lab	5c2e162367
3:38603986 SCN5A C>T	3	38603986	38603986	C	T	SCN5A	c.3883G>A	NM_198056.3	NP_932173.1:p.(Glu1295Lys)	NC_000003.11:g.38603986C>T	VUS	1 lab	f2ef1ec923
17:29509533 NF1 A>AT	17	29509533	29509534	A	AT	NF1	c.738_739insT	NM_000267.3	NP_000258.1:p.(Glu247Ter)	NC_000017.10:g.29509533_29509534insT	(Likely) pathogenic	1 lab	5c310136f2
6:42666060 PRPH2 G>T	6	42666060	42666060	G	T	PRPH2	c.1014C>A	NM_000322.4	NP_000313.2:p.(Asp338Glu)	NC_000006.11:g.42666060G>T	(Likely) benign	1 lab	5c31a2747c
17:29587492 NF1 G>A	17	29587492	29587492	G	A	NF1	c.4473G>A	NM_000267.3	NP_000258.1:p.(Trp1491Ter)	NC_000017.10:g.29587492G>A	(Likely) pathogenic	1 lab	5c3353b927
16:1250481 CACNA1H C>T	16	1250481	1250481	C	T	CACNA1H	c.1029C>T	NM_021098.2	NP_066921.2:p.(Tyr343=)	NC_000016.9:g.1250481C>T	(Likely) benign	1 lab	5c33c81233
1:158589121 SPTA1 G>C	1	158589121	158589121	G	C	SPTA1	c.6421C>G	NM_003126.3	NP_003117.2:p.(Arg2141Gly)	NC_000001.10:g.158589121G>C	VUS	1 lab	5c35da5a22
22:25603110 CRYBB3 G>A	22	25603110	25603110	G	A	CRYBB3	c.567G>A	NM_004076.4	NP_004067.1:p.(Pro189=)	NC_000022.10:g.25603110G>A	(Likely) benign	1 lab	5c38321048
X:51076079 NUDT10 G>C	X	51076079	51076079	G	C	NUDT10	c.262G>C	NM_153183.3	NP_694853.1:p.(Asp88His)	NC_000023.10:g.51076079G>C	VUS	1 lab	5c38cce0f4
2:189860439 COL3A1 G>C	2	189860439	189860439	G	C	COL3A1	c.1531G>C	NM_000090.3	NP_000081.1:p.(Ala511Pro)	NC_000002.11:g.189860439G>C	(Likely) benign	1 lab	5c38ef1a37
15:44918698 SPG11 A>G	15	44918698	44918698	A	G	SPG11	c.2075T>C	NM_025137.4	NP_079413.3:p.(Ile692Thr)	NC_000015.9:g.44918698A>G	(Likely) benign	1 lab	f2f0df0aee
11:102100429 YAP1 C>T	11	102100429	102100429	C	T	YAP1	c.1289-4C>T	NM_001282101.1	NP_001269030.1:p.?	NC_000011.9:g.102100429C>T	(Likely) benign	1 lab	5c3b41704e
20:49509486 ADNP C>G	20	49509486	49509486	C	G	ADNP	c.1765G>C	NM_001282531.2	NP_001269460.1:p.(Val589Leu)	NC_000020.10:g.49509486C>G	VUS	1 lab	5c3c721511
3:184045482 EIF4G1 A>G	3	184045482	184045482	A	G	EIF4G1	c.3773A>G	NM_182917.4	NP_886553.3:p.(Asn1258Ser)	NC_000003.11:g.184045482A>G	VUS	1 lab	5c3f2710ff
2:179485552 TTN T>G	2	179485552	179485552	T	G	TTN	c.45785A>C	NM_001267550.1	NP_001254479.1:p.(Tyr15262Ser)	NC_000002.11:g.179485552T>G	VUS	1 lab	5c407132b3
1:237619915 RYR2 G>A	1	237619915	237619915	G	A	RYR2	c.1492G>A	NM_001035.2	NP_001026.2:p.(Val498Met)	NC_000001.10:g.237619915G>A	VUS	1 lab	5c40794207
6:3850644 FAM50B C>T	6	3850644	3850644	C	T	FAM50B	c.599C>T	NM_012135.2	NP_036267.1:p.(Thr200Met)	NC_000006.11:g.3850644C>T	VUS	1 lab	5c4128aeb1
5:19473826 CDH18 C>A	5	19473826	19473826	C	A	CDH18	c.1883-1G>T	NM_001291956.2	NP_001278885.1:p.?	NC_000005.9:g.19473826C>A	VUS	1 lab	5c435c9eaa
11:112014417 IL18 C>T	11	112014417	112014417	C	T	IL18	c.484G>A	NM_001562.3	NP_001553.1:p.(Ala162Thr)	NC_000011.9:g.112014417C>T	VUS	1 lab	5c43bc22e5
1:6485292 ESPN G>A	1	6485292	6485292	G	A	ESPN	c.277G>A	NM_031475.3	NP_113663.2:p.(Gly93Ser)	NC_000001.10:g.6485292G>A	VUS	1 lab	5c4482b36e
12:40643725 LRRK2 G>T	12	40643725	40643725	G	T	LRRK2	c.936G>T	NM_198578.3	NP_940980.3:p.(Ala312=)	NC_000012.11:g.40643725G>T	(Likely) benign	1 lab	5c455e94cf
4:39217501 WDR19 A>G	4	39217501	39217501	A	G	WDR19	c.1002A>G	NM_025132.3	NP_079408.3:p.(Leu334=)	NC_000004.11:g.39217501A>G	(Likely) benign	1 lab	5c461dba51
17:21454604 LINC02693 C>T	17	21454604	21454604	C	T	LINC02693	c.82G>A	NM_001113434.4	NP_001106905.1:p.(Ala28Thr)	NC_000017.10:g.21454604C>T	VUS	1 lab	5c471c98d3
17:1636998 WDR81 CAG>C	17	1636998	1637000	CAG	C	WDR81	c.4668_4669del	NM_001163809.2	NP_001157281.1:p.(Gly1557AspfsTer16)	NC_000017.10:g.1636999_1637000del	(Likely) pathogenic	1 lab	5c488b51ef
7:105183082 RINT1 A>T	7	105183082	105183082	A	T	RINT1	c.501A>T	NM_021930.5	NP_068749.3:p.(Gln167His)	NC_000007.13:g.105183082A>T	(Likely) benign	1 lab	5c493f3fc2
22:17578820 IL17RA A>G	22	17578820	17578820	A	G	IL17RA	c.297A>G	NM_014339.6	NP_055154.3:p.(Thr99=)	NC_000022.10:g.17578820A>G	(Likely) benign	1 lab	5c49715a51
X:114425202 RBMXL3 C>T	X	114425202	114425202	C	T	RBMXL3	c.1198C>T	NM_001145346.1	NP_001138818.1:p.(His400Tyr)	NC_000023.10:g.114425202C>T	(Likely) benign	1 lab	5c49735a2f
X:153296706 MECP2 G>C	X	153296706	153296706	G	C	MECP2	c.573C>G	NM_004992.3	NP_004983.1:p.(Pro191=)	NC_000023.10:g.153296706G>C	(Likely) benign	1 lab	5c4ed2c87d
15:43909948 STRC G>A	15	43909948	43909948	G	A	STRC	c.671C>T	NM_153700.2	NP_714544.1:p.(Thr224Ile)	NC_000015.9:g.43909948G>A	(Likely) benign	1 lab	5c4f37d676
12:52682140 KRT81 C>T	12	52682140	52682140	C	T	KRT81	c.735+5G>A	NM_002281.4	NP_002272.2:p.?	NC_000012.11:g.52682140C>T	VUS	1 lab	f2f41e8c51
16:3293909 MEFV G>C	16	3293909	3293909	G	C	MEFV	c.1285C>G	NM_001198536.1	NP_001185465.1:p.(Leu429Val)	NC_000016.9:g.3293909G>C	VUS	1 lab	5c5145a4b6
15:82533666 EFL1 C>T	15	82533666	82533666	C	T	EFL1	c.323G>A	NM_001322845.1	NP_001309774.1:p.(Arg108His)	NC_000015.9:g.82533666C>T	VUS	1 lab	5c518dbce0
19:50312653 FUZ C>T	19	50312653	50312653	C	T	FUZ	c.672G>A	NM_025129.4	NP_079405.2:p.(Leu224=)	NC_000019.9:g.50312653C>T	(Likely) benign	1 lab	5c52b2869d
17:29554625 NF1 G>A	17	29554625	29554625	G	A	NF1	c.2409+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554625G>A	(Likely) pathogenic	1 lab	5c532495b3
X:149638219 MAMLD1 C>T	X	149638219	149638219	C	T	MAMLD1	c.374C>T	NM_005491.4	NP_005482.2:p.(Ala125Val)	NC_000023.10:g.149638219C>T	(Likely) benign	1 lab	5c53b78626
6:137234663 PEX7 G>A	6	137234663	137234663	G	A	PEX7	c.971G>A	NM_000288.3	NP_000279.1:p.(Ter324=)	NC_000006.11:g.137234663G>A	(Likely) benign	1 lab	5c54acb33e
2:179494097 TTN G>T	2	179494097	179494097	G	T	TTN	c.44355C>A	NM_001267550.1	NP_001254479.1:p.(Cys14785Ter)	NC_000002.11:g.179494097G>T	(Likely) pathogenic	1 lab	5c555f4397
7:1540010 INTS1 G>A	7	1540010	1540010	G	A	INTS1	c.350-8C>T	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1540010G>A	(Likely) benign	1 lab	5c5645c4e8
8:145738238 RECQL4 G>A	8	145738238	145738238	G	A	RECQL4	c.2747C>T	NM_004260.3	NP_004251.3:p.(Pro916Leu)	NC_000008.10:g.145738238G>A	VUS	1 lab	5c57cc1c10
2:30143500 ALK A>C	2	30143500	30143500	A	C	ALK	c.26T>G	NM_004304.5	NP_004295.2:p.(Leu9Arg)	NC_000002.11:g.30143500A>C	VUS	1 lab	f2f83d43e2
16:70972531 HYDIN G>A	16	70972531	70972531	G	A	HYDIN	c.6981C>T	NM_001270974.2	NP_001257903.1:p.(Arg2327=)	NC_000016.9:g.70972531G>A	(Likely) benign	1 lab	5c5c89ed61
16:16282828 ABCC6 C>T	16	16282828	16282828	C	T	ABCC6	c.1297G>A	NM_001351800.1	NP_001338729.1:p.(Ala433Thr)	NC_000016.9:g.16282828C>T	VUS	1 lab	5c5d24a54c
3:4508813 SUMF1 G>C	3	4508813	4508813	G	C	SUMF1	c.117C>G	NM_182760.3	NP_877437.2:p.(Thr39=)	NC_000003.11:g.4508813G>C	(Likely) benign	1 lab	5c5dd086a7
15:57524525 TCF12 C>G	15	57524525	57524525	C	G	TCF12	c.722C>G	NM_207037.1	NP_996920.1:p.(Ser241Ter)	NC_000015.9:g.57524525C>G	(Likely) pathogenic	1 lab	5c606f3674
14:75052806 LTBP2 G>A	14	75052806	75052806	G	A	LTBP2	c.581C>T	NM_000428.2	NP_000419.1:p.(Pro194Leu)	NC_000014.8:g.75052806G>A	VUS	1 lab	5c630690eb
1:210856932 KCNH1 G>A	1	210856932	210856932	G	A	KCNH1	c.2661C>T	NM_172362.2	NP_758872.1:p.(Ser887=)	NC_000001.10:g.210856932G>A	(Likely) benign	1 lab	5c6306b5fa
19:4543938 SEMA6B C>A	19	4543938	4543938	C	A	SEMA6B	c.2342G>T	NM_032108.4	NP_115484.2:p.(Arg781Leu)	NC_000019.9:g.4543938C>A	(Likely) benign	1 lab	5c647fd878
16:30236595 NPIPB13 C>T	16	30236595	30236595	C	T	NPIPB13	c.1172G>A	NM_001321892.1	NP_001308821.1:p.(Arg391His)	NC_000016.9:g.30236595C>T	(Likely) benign	1 lab	5c65081798
1:2340045 PEX10 G>A	1	2340045	2340045	G	A	PEX10	c.446C>T	NM_153818.1	NP_722540.1:p.(Thr149Met)	NC_000001.10:g.2340045G>A	VUS	1 lab	5c653a1399
4:15601173 CC2D2A A>G	4	15601173	15601173	A	G	CC2D2A	c.4518A>G	NM_001080522.2	NP_001073991.2:p.(Glu1506=)	NC_000004.11:g.15601173A>G	(Likely) benign	1 lab	5c6596a00d
8:145738126 RECQL4 C>T	8	145738126	145738126	C	T	RECQL4	c.2784G>A	NM_004260.3	NP_004251.3:p.(Glu928=)	NC_000008.10:g.145738126C>T	(Likely) benign	1 lab	5c6624215e
X:7890070 PNPLA4 C>T	X	7890070	7890070	C	T	PNPLA4	c.250G>A	NM_004650.2	NP_004641.1:p.(Gly84Ser)	NC_000023.10:g.7890070C>T	VUS	1 lab	60e537feb4
19:8645880 ADAMTS10 T>C	19	8645880	8645880	T	C	ADAMTS10	c.3209A>G	NM_030957.3	NP_112219.3:p.(Lys1070Arg)	NC_000019.9:g.8645880T>C	VUS	1 lab	5c6699a1cd
14:67759223 PALS1 A>G	14	67759223	67759223	A	G	PALS1	c.368-5A>G	NM_022474.4	NP_071919.2:p.?	NC_000014.8:g.67759223A>G	(Likely) benign	1 lab	f2f8a8efb5
14:64898340 MTHFD1 C>T	14	64898340	64898340	C	T	MTHFD1	c.1402C>T	NM_005956.4	NP_005947.3:p.(Leu468=)	NC_000014.8:g.64898340C>T	(Likely) pathogenic	1 lab	5c672511cc
21:46907442 COL18A1 C>T	21	46907442	46907442	C	T	COL18A1	c.1896+19C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46907442C>T	(Likely) benign	1 lab	5c68c84545
16:85701917 GSE1 CGGA>C	16	85701917	85701929	CGGA	C	GSE1	c.3312_3314del	NM_014615.5	NP_055430.1:p.(Glu1107del)	NC_000016.9:g.85701927_85701929del	VUS	1 lab	f2fcca0634
11:76834898 CAPN5 C>T	11	76834898	76834898	C	T	CAPN5	c.1905C>T	NM_004055.4	NP_004046.2:p.(Thr635=)	NC_000011.9:g.76834898C>T	(Likely) benign	1 lab	5c6d87d30c
1:35857857 ZMYM4 C>G	1	35857857	35857857	C	G	ZMYM4	c.1660C>G	NM_001350139.1	NP_001337068.1:p.(Leu554Val)	NC_000001.10:g.35857857C>G	(Likely) benign	1 lab	5c6da8a7da
2:15519739 NBAS T>C	2	15519739	15519739	T	C	NBAS	c.3577A>G	NM_015909.3	NP_056993.2:p.(Met1193Val)	NC_000002.11:g.15519739T>C	VUS	1 lab	5c72b7cbb7
15:65113380 PIF1 G>A	15	65113380	65113380	G	A	PIF1	c.1072C>T	NM_001286496.2	NP_001273425.1:p.(Arg358Trp)	NC_000015.9:g.65113380G>A	VUS	1 lab	5c73aa42c9
9:135202595 SETX G>A	9	135202595	135202595	G	A	SETX	c.4390C>T	NM_015046.5	NP_055861.3:p.(Pro1464Ser)	NC_000009.11:g.135202595G>A	(Likely) benign	1 lab	5c746757cd
21:47417332 COL6A1 C>T	21	47417332	47417332	C	T	COL6A1	c.1399-3C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47417332C>T	(Likely) benign	1 lab	5c774eed87
17:6380542 PITPNM3 C>T	17	6380542	6380542	C	T	PITPNM3	c.901-9G>A	NM_031220.3	NP_112497.2:p.?	NC_000017.10:g.6380542C>T	(Likely) benign	1 lab	5c7a110e06
1:2235778 SKI C>T	1	2235778	2235778	C	T	SKI	c.1521C>T	NM_003036.3	NP_003027.1:p.(Ser507=)	NC_000001.10:g.2235778C>T	(Likely) benign	1 lab	5c7d4663d3
4:619713 PDE6B C>T	4	619713	619713	C	T	PDE6B	c.298C>T	NM_000283.3	NP_000274.2:p.(Arg100Cys)	NC_000004.11:g.619713C>T	VUS	1 lab	5c7de48218
1:153659185 NPR1 A>G	1	153659185	153659185	A	G	NPR1	c.1822A>G	NM_000906.4	NP_000897.3:p.(Ile608Val)	NC_000001.10:g.153659185A>G	(Likely) benign	1 lab	5c7fb6dc2f
12:116424081 MED13L G>T	12	116424081	116424081	G	T	MED13L	c.4328C>A	NM_015335.5	NP_056150.1:p.(Ala1443Asp)	NC_000012.11:g.116424081G>T	VUS	1 lab	f3014281ed
21:47831994 PCNT C>T	21	47831994	47831994	C	T	PCNT	c.5994+13C>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47831994C>T	(Likely) benign	1 lab	5c7ffac567
5:82834437 VCAN C>T	5	82834437	82834437	C	T	VCAN	c.5615C>T	NM_004385.4	NP_004376.2:p.(Pro1872Leu)	NC_000005.9:g.82834437C>T	VUS	1 lab	5c801e31b4
7:141758087 MGAM G>T	7	141758087	141758087	G	T	MGAM	c.3778G>T	NM_004668.2	NP_004659.2:p.(Ala1260Ser)	NC_000007.13:g.141758087G>T	(Likely) benign	1 lab	5c817f56ae
14:51390736 PYGL T>C	14	51390736	51390736	T	C	PYGL	c.611A>G	NM_002863.4	NP_002854.3:p.(Tyr204Cys)	NC_000014.8:g.51390736T>C	VUS	1 lab	5c82610033
4:170611802 CLCN3 A>T	4	170611802	170611802	A	T	CLCN3	c.728A>T	NM_173872.3	NP_776297.2:p.(Glu243Val)	NC_000004.11:g.170611802A>T	VUS	1 lab	5c846f96aa
7:151933014 KMT2C C>T	7	151933014	151933014	C	T	KMT2C	c.2657G>A	NM_170606.2	NP_733751.2:p.(Arg886His)	NC_000007.13:g.151933014C>T	VUS	1 lab	5c85060c67
2:220439979 INHA C>T	2	220439979	220439979	C	T	INHA	c.832C>T	NM_002191.4	NP_002182.1:p.(Arg278Trp)	NC_000002.11:g.220439979C>T	(Likely) benign	1 lab	5c85235133
9:32984637 APTX C>T	9	32984637	32984637	C	T	APTX	c.762G>A	NM_001195249.1	NP_001182178.1:p.(Pro254=)	NC_000009.11:g.32984637C>T	VUS	1 lab	5c867f92af
3:113331035 SIDT1 A>C	3	113331035	113331035	A	C	SIDT1	c.1219A>C	NM_001322299.1	NP_001309228.1:p.(Lys407Gln)	NC_000003.11:g.113331035A>C	VUS	1 lab	5c873c812c
1:6511895 ESPN C>T	1	6511895	6511895	C	T	ESPN	c.2064C>T	NM_031475.3	NP_113663.2:p.(Pro688=)	NC_000001.10:g.6511895C>T	(Likely) benign	1 lab	5c89d195b9
10:14987153 DCLRE1C T>C	10	14987153	14987153	T	C	DCLRE1C	c.197A>G	NM_001350965.1	NP_001337894.1:p.(Lys66Arg)	NC_000010.10:g.14987153T>C	VUS	1 lab	5c8a928b6a
7:100280991 GIGYF1 C>T	7	100280991	100280991	C	T	GIGYF1	c.2129G>A	NM_022574.5	NP_072096.2:p.(Arg710His)	NC_000007.13:g.100280991C>T	VUS	1 lab	5c8bce7828
12:40761466 LRRK2 G>A	12	40761466	40761466	G	A	LRRK2	c.7483G>A	NM_198578.3	NP_940980.3:p.(Val2495Ile)	NC_000012.11:g.40761466G>A	(Likely) benign	1 lab	5c8c4e667e
11:17518313 USH1C G>A	11	17518313	17518313	G	A	USH1C	c.2538C>T	NM_153676.3	NP_710142.1:p.(Asp846=)	NC_000011.9:g.17518313G>A	(Likely) benign	1 lab	5c8c6f6656
12:2800335 CACNA1C G>A	12	2800335	2800335	G	A	CACNA1C	c.6636G>A	NM_199460.3	NP_955630.3:p.(Gln2212=)	NC_000012.11:g.2800335G>A	(Likely) benign	1 lab	5c8db39d8b
5:150714889 SLC36A2 C>T	5	150714889	150714889	C	T	SLC36A2	c.744+1G>A	NM_181776.2	NP_861441.2:p.?	NC_000005.9:g.150714889C>T	VUS	1 lab	5c8e6356de
21:47831642 PCNT G>A	21	47831642	47831642	G	A	PCNT	c.5655G>A	NM_006031.5	NP_006022.3:p.(Ala1885=)	NC_000021.8:g.47831642G>A	(Likely) benign	1 lab	5c8fc7df6e
6:143091391 HIVEP2 C>T	6	143091391	143091391	C	T	HIVEP2	c.4485G>A	NM_006734.3	NP_006725.3:p.(Leu1495=)	NC_000006.11:g.143091391C>T	(Likely) benign	1 lab	5c91d986bc
6:35286251 DEF6 G>A	6	35286251	35286251	G	A	DEF6	c.1215+3G>A	NM_022047.4	NP_071330.3:p.?	NC_000006.11:g.35286251G>A	(Likely) benign	1 lab	5c925e94d0
8:95888307 INTS8 C>T	8	95888307	95888307	C	T	INTS8	c.2694C>T	NM_017864.3	NP_060334.2:p.(Ala898=)	NC_000008.10:g.95888307C>T	(Likely) benign	1 lab	5c934cfd93
1:40544282 PPT1 C>T	1	40544282	40544282	C	T	PPT1	c.676G>A	NM_000310.3	NP_000301.1:p.(Val226Met)	NC_000001.10:g.40544282C>T	VUS	1 lab	5c95f78de0
17:29556367 NF1 C>T	17	29556367	29556367	C	T	NF1	c.2734C>T	NM_000267.3	NP_000258.1:p.(Gln912Ter)	NC_000017.10:g.29556367C>T	(Likely) pathogenic	1 lab	5c96437bd3
1:152277406 FLG G>A	1	152277406	152277406	G	A	FLG	c.9956C>T	NM_002016.1	NP_002007.1:p.(Pro3319Leu)	NC_000001.10:g.152277406G>A	VUS	1 lab	5c974c4c78
2:163128862 IFIH1 G>A	2	163128862	163128862	G	A	IFIH1	c.2490C>T	NM_022168.4	NP_071451.2:p.(Tyr830=)	NC_000002.11:g.163128862G>A	(Likely) benign	1 lab	5c97c4187e
16:84067024 SLC38A8 C>A	16	84067024	84067024	C	A	SLC38A8	c.439G>T	NM_001080442.2	NP_001073911.1:p.(Ala147Ser)	NC_000016.9:g.84067024C>A	(Likely) benign	1 lab	5c983d0d59
2:37342007 EIF2AK2 GA>G	2	37342007	37342018	GA	G	EIF2AK2	c.1249-6del	NM_001135651.3	NP_001129123.1:p.?	NC_000002.11:g.37342018del	(Likely) benign	1 lab	5c9b9d7f7b
7:21894086 DNAH11 G>A	7	21894086	21894086	G	A	DNAH11				NC_000007.13:g.21894086G>A	(Likely) benign	1 lab	5c9ba5ca8e
X:38240662 OTC A>G	X	38240662	38240662	A	G	OTC	c.366A>G	NM_000531.5	NP_000522.3:p.(Glu122=)	NC_000023.10:g.38240662A>G	(Likely) benign	1 lab	5c9cdde735
2:179436527 TTN C>T	2	179436527	179436527	C	T	TTN	c.74332G>A	NM_001267550.2	NP_001254479.2:p.(Ala24778Thr)	NC_000002.11:g.179436527C>T	VUS	1 lab	f30b07f65d
X:54496730 FGD1 C>T	X	54496730	54496730	C	T	FGD1	c.820G>A	NM_004463.2	NP_004454.2:p.(Asp274Asn)	NC_000023.10:g.54496730C>T	(Likely) benign	1 lab	5c9f0de2d6
18:12348306 AFG3L2 T>C	18	12348306	12348306	T	C	AFG3L2	c.1629A>G	NM_006796.2	NP_006787.2:p.(Lys543=)	NC_000018.9:g.12348306T>C	(Likely) benign	1 lab	5ca18b16be
20:2633312 NOP56 G>A	20	2633312	2633312	G	A	NOP56	c.3+3G>A	NM_006392.3	NP_006383.2:p.?	NC_000020.10:g.2633312G>A	(Likely) benign	1 lab	5ca3d0738b
19:9067856 MUC16 T>A	19	9067856	9067856	T	A	MUC16	c.19590A>T	NM_024690.2	NP_078966.2:p.(Leu6530Phe)	NC_000019.9:g.9067856T>A	VUS	1 lab	5ca42d716f
17:39780537 KRT17 A>G	17	39780537	39780537	A	G	KRT17	c.225T>C	NM_000422.3	NP_000413.1:p.(Gly75=)	NC_000017.10:g.39780537A>G	(Likely) benign	1 lab	5ca69318b4
21:47663564 MCM3AP G>C	21	47663564	47663564	G	C	MCM3AP	c.5111C>G	NM_003906.4	NP_003897.2:p.(Pro1704Arg)	NC_000021.8:g.47663564G>C	VUS	1 lab	5ca79d9e24
X:10180683 CLCN4 G>A	X	10180683	10180683	G	A	CLCN4	c.1566G>A	NM_001830.3	NP_001821.2:p.(Ala522=)	NC_000023.10:g.10180683G>A	(Likely) benign	1 lab	5ca7ce2a3e
1:245865824 KIF26B G>A	1	245865824	245865824	G	A	KIF26B	c.6243G>A	NM_018012.4	NP_060482.2:p.(Thr2081=)	NC_000001.10:g.245865824G>A	(Likely) benign	1 lab	5ca7f776fc
21:40568528 BRWD1 T>C	21	40568528	40568528	T	C	BRWD1	c.6467A>G	NM_033656.3	NP_387505.1:p.(Lys2156Arg)	NC_000021.8:g.40568528T>C	(Likely) benign	1 lab	5ca866bf92
6:56382371 DST T>A	6	56382371	56382371	T	A	DST	c.11820A>T	NM_001144769.2	NP_001138241.1:p.(Glu3940Asp)	NC_000006.11:g.56382371T>A	(Likely) benign	1 lab	5ca86d1db7
13:42887253 AKAP11 C>T	13	42887253	42887253	C	T	AKAP11	c.5344C>T	NM_016248.4	NP_057332.1:p.(Pro1782Ser)	NC_000013.10:g.42887253C>T	(Likely) benign	1 lab	5caa2be9ff
3:123680107 MISSING T>G	3	123680107	123680107	T	G	MISSING				NC_000003.11:g.123680107T>G	VUS	1 lab	5caa4e4ba1
17:73518321 TSEN54 C>T	17	73518321	73518321	C	T	TSEN54	c.1159C>T	NM_207346.2	NP_997229.2:p.(Arg387Trp)	NC_000017.10:g.73518321C>T	(Likely) benign	1 lab	5cab107fca
X:77294324 ATP7A C>A	X	77294324	77294324	C	A	ATP7A	c.3512-10C>A	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77294324C>A	(Likely) benign	1 lab	5caba4115f
16:30002636 TAOK2 C>G	16	30002636	30002636	C	G	TAOK2	c.2897C>G	NM_004783.3	NP_004774.1:p.(Ala966Gly)	NC_000016.9:g.30002636C>G	VUS	1 lab	5cc521e74b
8:145047607 PLEC TGAA>T	8	145047607	145047611	TGAA	T	PLEC	c.31_33del	NM_201378.4	NP_958780.1:p.(Phe11del)	NC_000008.10:g.145047609_145047611del	VUS	1 lab	f30ef4662d
9:139400976 NOTCH1 T>C	9	139400976	139400976	T	C	NOTCH1	c.4014+3A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139400976T>C	VUS	1 lab	5cacafe0ee
6:158504508 SYNJ2 G>C	6	158504508	158504508	G	C	SYNJ2	c.2913G>C	NM_003898.3	NP_003889.1:p.(Leu971=)	NC_000006.11:g.158504508G>C	(Likely) benign	1 lab	5caf06de26
X:47489029 CFP C>T	X	47489029	47489029	C	T	CFP	c.121G>A	NM_002621.2	NP_002612.1:p.(Gly41Ser)	NC_000023.10:g.47489029C>T	(Likely) benign	1 lab	5cb043026d
1:183204796 LAMC2 C>T	1	183204796	183204796	C	T	LAMC2	c.2387C>T	NM_005562.2	NP_005553.2:p.(Ala796Val)	NC_000001.10:g.183204796C>T	(Likely) benign	1 lab	5cb10a0ae5
2:219922349 IHH C>A	2	219922349	219922349	C	A	IHH	c.383G>T	NM_002181.3	NP_002172.2:p.(Arg128Leu)	NC_000002.11:g.219922349C>A	(Likely) pathogenic	1 lab	5cb18bc1f1
3:168818746 MECOM A>T	3	168818746	168818746	A	T	MECOM	c.2185T>A	NM_001164000.1	NP_001157472.1:p.(Cys729Ser)	NC_000003.11:g.168818746A>T	VUS	1 lab	5cb41510e6
14:74972856 LTBP2 C>A	14	74972856	74972856	C	A	LTBP2	c.4072G>T	NM_000428.2	NP_000419.1:p.(Ala1358Ser)	NC_000014.8:g.74972856C>A	(Likely) benign	1 lab	5cb4569c14
X:140993850 MAGEC1 A>T	X	140993850	140993850	A	T	MAGEC1	c.660A>T	NM_005462.4	NP_005453.2:p.(Arg220Ser)	NC_000023.10:g.140993850A>T	(Likely) benign	1 lab	5cb777ba4c
1:3732923 CEP104 A>G	1	3732923	3732923	A	G	CEP104	c.2583T>C	NM_014704.3	NP_055519.1:p.(Ala861=)	NC_000001.10:g.3732923A>G	(Likely) benign	1 lab	5cb7f03ee7
3:43591299 ANO10 G>A	3	43591299	43591299	G	A	ANO10	c.1710C>T	NM_001204831.2	NP_001191760.1:p.(Asn570=)	NC_000003.11:g.43591299G>A	(Likely) benign	1 lab	5cb89dbce1
19:40366320 FCGBP C>G	19	40366320	40366320	C	G	FCGBP	c.13914G>C	NM_003890.2	NP_003881.2:p.(Gly4638=)	NC_000019.9:g.40366320C>G	(Likely) benign	1 lab	5cb8f263e1
X:47041006 RBM10 C>T	X	47041006	47041006	C	T	RBM10	c.1731C>T	NM_001204468.1	NP_001191397.1:p.(Ala577=)	NC_000023.10:g.47041006C>T	(Likely) benign	1 lab	5cba09986b
8:94934833 PDP1 C>T	8	94934833	94934833	C	T	PDP1	c.621C>T	NM_001161779.1	NP_001155251.1:p.(Ser207=)	NC_000008.10:g.94934833C>T	(Likely) benign	1 lab	5cba52c45d
17:29665764 NF1 C>T	17	29665764	29665764	C	T	NF1	c.6799C>T	NM_000267.3	NP_000258.1:p.(Gln2267Ter)	NC_000017.10:g.29665764C>T	(Likely) pathogenic	1 lab	5cbb31310d
X:30326554 NR0B1 C>G	X	30326554	30326554	C	G	NR0B1	c.927G>C	NM_000475.4	NP_000466.2:p.(Val309=)	NC_000023.10:g.30326554C>G	(Likely) benign	1 lab	5cbbe7a628
17:18069808 MYO15A G>A	17	18069808	18069808	G	A	MYO15A	c.9921G>A	NM_016239.3	NP_057323.3:p.(Glu3307=)	NC_000017.10:g.18069808G>A	(Likely) benign	1 lab	5cbc012a21
20:390652 RBCK1 C>T	20	390652	390652	C	T	RBCK1	c.150C>T	NM_031229.2	NP_112506.2:p.(Ser50=)	NC_000020.10:g.390652C>T	(Likely) benign	1 lab	5cbd67e4bf
20:17474821 BFSP1 G>A	20	17474821	17474821	G	A	BFSP1	c.1896C>T	NM_001195.4	NP_001186.1:p.(Ser632=)	NC_000020.10:g.17474821G>A	(Likely) benign	1 lab	5cc0009ae4
1:11863038 MTHFR G>A	1	11863038	11863038	G	A	MTHFR	c.136C>T	NM_005957.5	NP_005948.3:p.(Arg46Trp)	NC_000001.10:g.11863038G>A	VUS	1 lab	f310dd6461
2:179605093 TTN G>A	2	179605093	179605093	G	A	TTN	c.12867C>T	NM_001267550.1	NP_001254479.1:p.(Pro4289=)	NC_000002.11:g.179605093G>A	(Likely) benign	1 lab	5cc26a090d
3:195486012 MUC4 G>C	3	195486012	195486012	G	C	MUC4	c.14969C>G	NM_018406.6	NP_060876.5:p.(Thr4990Ser)	NC_000003.11:g.195486012G>C	(Likely) benign	1 lab	5cc2dbcd41
16:2144110 PKD1 G>A	16	2144110	2144110	G	A	PKD1	c.10601C>T	NM_001009944.2	NP_001009944.2:p.(Ala3534Val)	NC_000016.9:g.2144110G>A	VUS	1 lab	5cc2f71a86
X:53265591 IQSEC2 G>A	X	53265591	53265591	G	A	IQSEC2	c.3364C>T	NM_001111125.2	NP_001104595.1:p.(Arg1122Cys)	NC_000023.10:g.53265591G>A	(Likely) benign	1 lab	5cc31dcf6c
X:1522331 ASMTL G>A	X	1522331	1522331	G	A	ASMTL	c.1697C>T	NM_004192.3	NP_004183.2:p.(Ala566Val)	NC_000023.10:g.1522331G>A	(Likely) benign	1 lab	5cc4ba8b4b
14:105417205 AHNAK2 C>A	14	105417205	105417205	C	A	AHNAK2	c.4583G>T	NM_138420.3	NP_612429.2:p.(Ser1528Ile)	NC_000014.8:g.105417205C>A	(Likely) benign	1 lab	5cc4bd695b
6:107956520 SOBP C>T	6	107956520	107956520	C	T	SOBP	c.2472C>T	NM_018013.3	NP_060483.3:p.(Thr824=)	NC_000006.11:g.107956520C>T	(Likely) benign	1 lab	5cc55a229c
13:103718576 SLC10A2 C>T	13	103718576	103718576	C	T	SLC10A2	c.24G>A	NM_000452.2	NP_000443.1:p.(Val8=)	NC_000013.10:g.103718576C>T	(Likely) benign	1 lab	5cc55f4547
19:1625569 TCF3 G>A	19	1625569	1625569	G	A	TCF3	c.499+6C>T	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1625569G>A	(Likely) benign	1 lab	5cc65006f5
17:29684390 NF1 A>C	17	29684390	29684390	A	C	NF1	c.7907+3A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684390A>C	VUS	1 lab	92c628663e
19:36398646 TYROBP GCCTGGA>G	19	36398646	36398653	GCCTGGA	G	TYROBP	c.74_79del	NM_003332.4	NP_003323.1:p.(Val25_Gln26del)	NC_000019.9:g.36398648_36398653del	VUS	1 lab	5cc6c67617
3:195514455 MUC4 A>G	3	195514455	195514455	A	G	MUC4	c.3996T>C	NM_018406.6	NP_060876.5:p.(Thr1332=)	NC_000003.11:g.195514455A>G	(Likely) benign	1 lab	5cc785ebb3
X:84569502 POF1B A>G	X	84569502	84569502	A	G	POF1B	c.893T>C	NM_024921.3	NP_079197.3:p.(Ile298Thr)	NC_000023.10:g.84569502A>G	VUS	1 lab	5cc7c3f57d
9:34459025 DNAI1 G>T	9	34459025	34459025	G	T	DNAI1	c.22G>T	NM_012144.3	NP_036276.1:p.(Ala8Ser)	NC_000009.11:g.34459025G>T	(Likely) benign	1 lab	5cc9ff24d8
X:131216518 FRMD7 T>C	X	131216518	131216518	T	C	FRMD7	c.778A>G	NM_194277.2	NP_919253.1:p.(Ser260Gly)	NC_000023.10:g.131216518T>C	VUS	1 lab	5cca49930e
9:123734258 C5 C>T	9	123734258	123734258	C	T	C5	c.4048G>A	NM_001317163.1	NP_001304092.1:p.(Asp1350Asn)	NC_000009.11:g.123734258C>T	VUS	1 lab	5cca68f777
22:37333566 CSF2RB C>A	22	37333566	37333566	C	A	CSF2RB	c.1716C>A	NM_000395.2	NP_000386.1:p.(Gly572=)	NC_000022.10:g.37333566C>A	(Likely) benign	1 lab	5ccb7ddbfc
19:5694464 LONP1 T>C	19	5694464	5694464	T	C	LONP1	c.2254A>G	NM_004793.3	NP_004784.2:p.(Thr752Ala)	NC_000019.9:g.5694464T>C	VUS	1 lab	5ccb9360ec
13:58207256 PCDH17 C>G	13	58207256	58207256	C	G	PCDH17	c.576C>G	NM_001040429.3	NP_001035519.1:p.(Phe192Leu)	NC_000013.10:g.58207256C>G	VUS	1 lab	5ccc4aca13
17:33430511 RAD51D G>A	17	33430511	33430511	G	A	RAD51D	c.629C>T	NM_002878.3	NP_002869.3:p.(Ala210Val)	NC_000017.10:g.33430511G>A	VUS	1 lab	5ccd8041e4
10:69991229 ATOH7 T>C	10	69991229	69991229	T	C	ATOH7	c.206A>G	NM_145178.3	NP_660161.1:p.(Gln69Arg)	NC_000010.10:g.69991229T>C	VUS	1 lab	5ccefcd6ea
2:29416157 ALK G>T	2	29416157	29416157	G	T	ALK				NC_000002.11:g.29416157G>T	VUS	1 lab	5cd0a5954f
X:68049649 EFNB1 C>T	X	68049649	68049649	C	T	EFNB1	c.30C>T	NM_004429.4	NP_004420.1:p.(Gly10=)	NC_000023.10:g.68049649C>T	(Likely) pathogenic	1 lab	5cd0abb966
1:26774125 DHDDS G>C	1	26774125	26774125	G	C	DHDDS	c.237G>C	NM_001319959.1	NP_001306888.1:p.(Gly79=)	NC_000001.10:g.26774125G>C	(Likely) benign	1 lab	5cd1ed1323
11:6645108 DCHS1 G>A	11	6645108	6645108	G	A	DCHS1				NC_000011.9:g.6645108G>A	VUS	1 lab	5cd2108d04
6:116953413 RSPH4A CCAGA>C	6	116953413	116953419	CCAGA	C	RSPH4A	c.1963_1966del	NM_001010892.3	NP_001010892.1:p.(Asp655IlefsTer83)	NC_000006.11:g.116953416_116953419del	(Likely) pathogenic	1 lab	5cd461eae5
8:10467676 RP1L1 T>C	8	10467676	10467676	T	C	RP1L1	c.3932A>G	NM_178857.5	NP_849188.4:p.(Glu1311Gly)	NC_000008.10:g.10467676T>C	(Likely) benign	1 lab	5cd509fd44
15:87217506 AGBL1 T>A	15	87217506	87217506	T	A	AGBL1	c.3060T>A	NM_152336.3	NP_689549.3:p.(Gly1020=)	NC_000015.9:g.87217506T>A	(Likely) benign	1 lab	5cd82247f1
7:106300976 CCDC71L G>A	7	106300976	106300976	G	A	CCDC71L	c.367C>T	NM_175884.5	NP_787080.2:p.(Arg123Trp)	NC_000007.13:g.106300976G>A	VUS	1 lab	5cd92c9b47
16:72137910 DHX38 C>T	16	72137910	72137910	C	T	DHX38	c.1890C>T	NM_014003.3	NP_054722.2:p.(Asp630=)	NC_000016.9:g.72137910C>T	(Likely) benign	1 lab	5cda24b7aa
19:44015607 ETHE1 G>A	19	44015607	44015607	G	A	ETHE1	c.487C>T	NM_014297.4	NP_055112.2:p.(Arg163Trp)	NC_000019.9:g.44015607G>A	(Likely) pathogenic	1 lab	5cda3e5384
12:88900820 KITLG T>C	12	88900820	88900820	T	C	KITLG	c.699A>G	NM_000899.4	NP_000890.1:p.(Gly233=)	NC_000012.11:g.88900820T>C	(Likely) benign	1 lab	5cdb3a921a
18:47390716 MYO5B T>A	18	47390716	47390716	T	A	MYO5B	c.3638A>T	NM_001080467.2	NP_001073936.1:p.(Lys1213Met)	NC_000018.9:g.47390716T>A	VUS	1 lab	5cdc36baa8
10:75854152 VCL C>T	10	75854152	75854152	C	T	VCL	c.1476C>T	NM_014000.2	NP_054706.1:p.(His492=)	NC_000010.10:g.75854152C>T	(Likely) benign	1 lab	5cdd8e1e84
1:114450809 DCLRE1B G>A	1	114450809	114450809	G	A	DCLRE1B	c.534G>A	NM_022836.4	NP_073747.1:p.(Lys178=)	NC_000001.10:g.114450809G>A	(Likely) benign	1 lab	5ce0ee289e
3:143371089 SLC9A9 G>T	3	143371089	143371089	G	T	SLC9A9	c.755+8C>A	NM_173653.3	NP_775924.1:p.?	NC_000003.11:g.143371089G>T	(Likely) benign	1 lab	5ce16ecfb4
X:73962689 NEXMIF ACT>A	X	73962689	73962691	ACT	A	NEXMIF	c.1701_1702del	NM_001008537.3	NP_001008537.1:p.(Val568GlufsTer4)	NC_000023.10:g.73962690_73962691del	(Likely) pathogenic	1 lab	5ce2551473
2:179454602 TTN G>T	2	179454602	179454602	G	T	TTN	c.61850C>A	NM_001267550.1	NP_001254479.1:p.(Ser20617Ter)	NC_000002.11:g.179454602G>T	(Likely) pathogenic	1 lab	5ce2b25a4e
2:179441399 TTN T>C	2	179441399	179441399	T	C	TTN	c.69572A>G	NM_001267550.1	NP_001254479.1:p.(Lys23191Arg)	NC_000002.11:g.179441399T>C	VUS	1 lab	5ce2b787a4
3:123357062 MYLK G>C	3	123357062	123357062	G	C	MYLK	c.4838-21C>G	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123357062G>C	(Likely) benign	1 lab	5ce30552fb
X:153690588 PLXNA3 G>A	X	153690588	153690588	G	A	PLXNA3	c.1255G>A	NM_017514.4	NP_059984.3:p.(Ala419Thr)	NC_000023.10:g.153690588G>A	(Likely) benign	1 lab	5ce3f62505
X:153130125 L1CAM C>A	X	153130125	153130125	C	A	L1CAM	c.3081G>T	NM_000425.4	NP_000416.1:p.(Ala1027=)	NC_000023.10:g.153130125C>A	(Likely) benign	1 lab	5ce47e1922
X:47500823 ELK1 C>T	X	47500823	47500823	C	T	ELK1	c.18G>A	NM_001114123.2	NP_001107595.1:p.(Thr6=)	NC_000023.10:g.47500823C>T	(Likely) benign	1 lab	5ce6a0915d
X:85218743 CHM G>C	X	85218743	85218743	G	C	CHM	c.629C>G	NM_000390.2	NP_000381.1:p.(Pro210Arg)	NC_000023.10:g.85218743G>C	VUS	1 lab	5ce72da8b7
3:123010111 ADCY5 T>C	3	123010111	123010111	T	C	ADCY5	c.3176A>G	NM_183357.2	NP_899200.1:p.(Asn1059Ser)	NC_000003.11:g.123010111T>C	VUS	1 lab	5ce7c81c6a
X:12809713 PRPS2 A>C	X	12809713	12809713	A	C	PRPS2	c.97A>C	NM_001039091.2	NP_001034180.1:p.(Lys33Gln)	NC_000023.10:g.12809713A>C	VUS	1 lab	5cea1b427a
14:23888458 MYH7 C>G	14	23888458	23888458	C	G	MYH7	c.3900G>C	NM_000257.2	NP_000248.2:p.(Gln1300His)	NC_000014.8:g.23888458C>G	VUS	1 lab	5ceae0a978
9:102595069 NR4A3 G>A	9	102595069	102595069	G	A	NR4A3	c.1083G>A	NM_173200.3	NP_775292.1:p.(Gln361=)	NC_000009.11:g.102595069G>A	(Likely) benign	1 lab	f310fe2ba6
11:76883788 MYO7A C>T	11	76883788	76883788	C	T	MYO7A	c.1798-6C>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76883788C>T	(Likely) benign	1 lab	5cec484367
9:27949569 LINGO2 C>A	9	27949569	27949569	C	A	LINGO2	c.1101G>T	NM_152570.3	NP_689783.1:p.(Leu367Phe)	NC_000009.11:g.27949569C>A	VUS	1 lab	5ceda261ee
19:1220370 STK11 A>T	19	1220370	1220370	A	T	STK11	c.465-2A>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220370A>T	(Likely) pathogenic	1 lab	5cef5dffa8
13:108861336 LIG4 A>G	13	108861336	108861336	A	G	LIG4	c.2281T>C	NM_002312.3	NP_002303.2:p.(Tyr761His)	NC_000013.10:g.108861336A>G	(Likely) benign	1 lab	5cf2b90f34
8:61777574 CHD7 G>A	8	61777574	61777574	G	A	CHD7				NC_000008.10:g.61777574G>A	(Likely) pathogenic	1 lab	5cf30615a4
X:49127175 PPP1R3F C>T	X	49127175	49127175	C	T	PPP1R3F	c.843C>T	NM_033215.4	NP_149992.3:p.(Tyr281=)	NC_000023.10:g.49127175C>T	(Likely) benign	1 lab	5cf3233114
17:42987524 GFAP T>C	17	42987524	42987524	T	C	GFAP	c.1276A>G	NM_001131019.3	NP_001124491.1:p.(Thr426Ala)	NC_000017.10:g.42987524T>C	(Likely) benign	1 lab	f3125bc0b0
2:44202281 LRPPRC G>A	2	44202281	44202281	G	A	LRPPRC	c.813C>T	NM_133259.3	NP_573566.2:p.(Leu271=)	NC_000002.11:g.44202281G>A	(Likely) benign	1 lab	5cf4e7fec9
18:77473131 CTDP1 A>G	18	77473131	77473131	A	G	CTDP1	c.1023A>G	NM_004715.4	NP_004706.3:p.(Arg341=)	NC_000018.9:g.77473131A>G	(Likely) benign	1 lab	5cf52160e9
11:1271218 MUC5B G>A	11	1271218	1271218	G	A	MUC5B	c.13108G>A	NM_002458.2	NP_002449.2:p.(Ala4370Thr)	NC_000011.9:g.1271218G>A	(Likely) benign	1 lab	5cf7522a27
7:138437397 ATP6V0A4 A>G	7	138437397	138437397	A	G	ATP6V0A4	c.1002T>C	NM_020632.2	NP_065683.2:p.(Arg334=)	NC_000007.13:g.138437397A>G	(Likely) benign	1 lab	5cf810613f
14:88892590 SPATA7 G>A	14	88892590	88892590	G	A	SPATA7	c.387G>A	NM_018418.4	NP_060888.2:p.(Pro129=)	NC_000014.8:g.88892590G>A	(Likely) benign	1 lab	5cf852b010
1:231401508 GNPAT T>C	1	231401508	231401508	T	C	GNPAT	c.747T>C	NM_014236.3	NP_055051.1:p.(Ser249=)	NC_000001.10:g.231401508T>C	(Likely) benign	1 lab	5cf865df92
X:11780990 MSL3 C>T	X	11780990	11780990	C	T	MSL3	c.623C>T	NM_078628.1	NP_523352.1:p.(Thr208Met)	NC_000023.10:g.11780990C>T	VUS	1 lab	5cf865e034
5:112154734 APC A>G	5	112154734	112154734	A	G	APC				NC_000005.9:g.112154734A>G	(Likely) benign	1 lab	5cf8de6f7a
22:46760121 CELSR1 G>A	22	46760121	46760121	G	A	CELSR1	c.8807C>T	NM_014246.1	NP_055061.1:p.(Pro2936Leu)	NC_000022.10:g.46760121G>A	VUS	1 lab	5cf97ba6f6
2:166848176 SCN1A G>A	2	166848176	166848176	G	A	SCN1A	c.5609C>T	NM_001202435.2	NP_001189364.1:p.(Ala1870Val)	NC_000002.11:g.166848176G>A	VUS	1 lab	5cf9c341e3
1:100327863 AGL T>C	1	100327863	100327863	T	C	AGL	c.344T>C	NM_000028.2	NP_000019.2:p.(Val115Ala)	NC_000001.10:g.100327863T>C	VUS	1 lab	5cfb78a537
11:47369455 MYBPC3 C>T	11	47369455	47369455	C	T	MYBPC3	c.774G>A	NM_000256.3	NP_000247.2:p.(Glu258=)	NC_000011.9:g.47369455C>T	(Likely) benign	1 lab	5cfbaea9e0
1:235969302 LYST C>T	1	235969302	235969302	C	T	LYST	c.3134G>A	NM_001301365.1	NP_001288294.1:p.(Ser1045Asn)	NC_000001.10:g.235969302C>T	(Likely) benign	1 lab	5cfcaf0548
X:134988324 SAGE1 G>A	X	134988324	134988324	G	A	SAGE1	c.595+1G>A	NM_018666.2	NP_061136.2:p.?	NC_000023.10:g.134988324G>A	VUS	1 lab	5cfd72d327
2:179489191 TTN C>T	2	179489191	179489191	C	T	TTN	c.44815+1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179489191C>T	(Likely) pathogenic	1 lab	5cfdc4b47d
12:40702906 LRRK2 AG>A	12	40702906	40702908	AG	A	LRRK2	c.4190del	NM_198578.4	NP_940980.4:p.(Gly1397ValfsTer13)	NC_000012.11:g.40702908del	(Likely) pathogenic	1 lab	5cfe224710
20:33588880 MYH7B C>T	20	33588880	33588880	C	T	MYH7B	c.5520C>T	NM_020884.4	NP_065935.3:p.(Arg1840=)	NC_000020.10:g.33588880C>T	VUS	1 lab	5cfebd46ad
16:70977716 HYDIN T>C	16	70977716	70977716	T	C	HYDIN	c.6668A>G	NM_001270974.2	NP_001257903.1:p.(Gln2223Arg)	NC_000016.9:g.70977716T>C	VUS	1 lab	5cff0779dc
1:5935039 NPHP4 G>A	1	5935039	5935039	G	A	NPHP4	c.2939C>T	NM_015102.4	NP_055917.1:p.(Thr980Met)	NC_000001.10:g.5935039G>A	VUS	1 lab	5cfff8d98d
5:98215408 CHD1 C>T	5	98215408	98215408	C	T	CHD1	c.3085G>A	NM_001270.2	NP_001261.2:p.(Glu1029Lys)	NC_000005.9:g.98215408C>T	VUS	1 lab	5d04e12920
15:32460419 CHRNA7 C>T	15	32460419	32460419	C	T	CHRNA7	c.1356C>T	NM_001190455.2	NP_001177384.1:p.(Gly452=)	NC_000015.9:g.32460419C>T	(Likely) benign	1 lab	5d04ee2026
1:22211900 HSPG2 A>G	1	22211900	22211900	A	G	HSPG2	c.1123T>C	NM_001291860.1	NP_001278789.1:p.(Cys375Arg)	NC_000001.10:g.22211900A>G	VUS	1 lab	5d0642b4c0
16:2100381 TSC2 C>T	16	2100381	2100381	C	T	TSC2	c.139-20C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2100381C>T	(Likely) benign	1 lab	5d08155d50
2:15613385 NBAS C>T	2	15613385	15613385	C	T	NBAS	c.1686G>A	NM_015909.3	NP_056993.2:p.(Arg562=)	NC_000002.11:g.15613385C>T	(Likely) benign	1 lab	5d082c20e8
8:42294940 SLC20A2 C>T	8	42294940	42294940	C	T	SLC20A2	c.1090G>A	NM_006749.4	NP_006740.1:p.(Asp364Asn)	NC_000008.10:g.42294940C>T	VUS	1 lab	5d0921f266
6:7230193 RREB1 G>C	6	7230193	7230193	G	C	RREB1	c.1861G>C	NM_001003699.4	NP_001003699.1:p.(Gly621Arg)	NC_000006.11:g.7230193G>C	VUS	1 lab	f3193eee38
22:38165304 TRIOBP G>A	22	38165304	38165304	G	A	TRIOBP	c.6771G>A	NM_001039141.2	NP_001034230.1:p.(Gln2257=)	NC_000022.10:g.38165304G>A	(Likely) benign	1 lab	5d09b743a1
18:19751580 GATA6 C>T	18	19751580	19751580	C	T	GATA6	c.475C>T	NM_005257.5	NP_005248.2:p.(Pro159Ser)	NC_000018.9:g.19751580C>T	(Likely) benign	1 lab	5d0a79a3fe
X:24329329 SUPT20HL2 C>G	X	24329329	24329329	C	G	SUPT20HL2	c.2182G>C	NM_001136233.2	NP_001129705.2:p.(Ala728Pro)	NC_000023.10:g.24329329C>G	VUS	1 lab	5d0a9a4d89
3:129294391 PLXND1 C>T	3	129294391	129294391	C	T	PLXND1	c.2451G>A	NM_015103.2	NP_055918.2:p.(Arg817=)	NC_000003.11:g.129294391C>T	(Likely) benign	1 lab	5d0b00cc57
17:1637093 WDR81 G>C	17	1637093	1637093	G	C	WDR81	c.4762G>C	NM_001163809.1	NP_001157281.1:p.(Val1588Leu)	NC_000017.10:g.1637093G>C	(Likely) benign	1 lab	5d0bc6bbda
7:147600800 CNTNAP2 G>T	7	147600800	147600800	G	T	CNTNAP2	c.2242G>T	NM_014141.5	NP_054860.1:p.(Asp748Tyr)	NC_000007.13:g.147600800G>T	VUS	1 lab	5d0c5cc098
2:179451228 TTN T>C	2	179451228	179451228	T	C	TTN	c.64396+4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179451228T>C	VUS	1 lab	f31c5f891b
11:121058594 TECTA T>C	11	121058594	121058594	T	C	TECTA	c.6053T>C	NM_005422.2	NP_005413.2:p.(Leu2018Pro)	NC_000011.9:g.121058594T>C	VUS	1 lab	5d0e194881
11:66460117 SPTBN2 G>A	11	66460117	66460117	G	A	SPTBN2	c.5080C>T	NM_006946.3	NP_008877.1:p.(Leu1694Phe)	NC_000011.9:g.66460117G>A	(Likely) benign	1 lab	5d0ec124e8
1:65330499 JAK1 T>C	1	65330499	65330499	T	C	JAK1	c.1147A>G	NM_001321853.1	NP_001308782.1:p.(Ser383Gly)	NC_000001.10:g.65330499T>C	(Likely) benign	1 lab	5d0fbc747d
9:134183338 PLPP7 C>T	9	134183338	134183338	C	T	PLPP7	c.480C>T	NM_032728.4	NP_116117.3:p.(Ala160=)	NC_000009.11:g.134183338C>T	(Likely) benign	1 lab	5d0fcbb79c
16:85690872 GSE1 T>TC	16	85690872	85690878	T	TC	GSE1	c.1313-5dup	NM_014615.4	NP_055430.1:p.?	NC_000016.9:g.85690878dup	(Likely) benign	1 lab	5d101077bf
8:104413815 SLC25A32 G>A	8	104413815	104413815	G	A	SLC25A32	c.741C>T	NM_030780.4	NP_110407.2:p.(Val247=)	NC_000008.10:g.104413815G>A	(Likely) benign	1 lab	5d104b7aea
1:103488532 COL11A1 T>A	1	103488532	103488532	T	A	COL11A1	c.1047A>T	NM_080629.2	NP_542196.2:p.(Ile349=)	NC_000001.10:g.103488532T>A	(Likely) benign	1 lab	5d116a3c2f
12:65564314 LEMD3 G>T	12	65564314	65564314	G	T	LEMD3	c.938G>T	NM_014319.4	NP_055134.2:p.(Gly313Val)	NC_000012.11:g.65564314G>T	(Likely) benign	1 lab	5d122e5ea7
19:50102809 PRR12 G>A	19	50102809	50102809	G	A	PRR12	c.3959G>A	NM_020719.2	NP_065770.1:p.(Arg1320Gln)	NC_000019.9:g.50102809G>A	(Likely) benign	1 lab	5d1410a217
1:22973748 C1QC ACC>A	1	22973748	22973751	ACC	A	C1QC	c.212_213del	NM_172369.5	NP_758957.2:p.(Pro71GlnfsTer39)	NC_000001.10:g.22973750_22973751del	(Likely) pathogenic	1 lab	5d14307aa1
3:38050781 PLCD1 G>A	3	38050781	38050781	G	A	PLCD1	c.1651C>T	NM_001130964.1	NP_001124436.1:p.(Arg551Ter)	NC_000003.11:g.38050781G>A	(Likely) pathogenic	1 lab	5d1506b3a7
19:36211516 KMT2B TCTC>T	19	36211516	36211523	TCTC	T	KMT2B	c.1272_1274del	NM_014727.3	NP_055542.1:p.(Pro427del)	NC_000019.9:g.36211521_36211523del	VUS	1 lab	5d1885e802
11:73676032 DNAJB13 G>T	11	73676032	73676032	G	T	DNAJB13	c.444G>T	NM_153614.3	NP_705842.2:p.(Leu148=)	NC_000011.9:g.73676032G>T	(Likely) benign	1 lab	5d1ddb526e
8:119122317 EXT1 CACTT>C	8	119122317	119122325	CACTT	C	EXT1	c.962+3_962+6del	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.119122322_119122325del	(Likely) pathogenic	1 lab	5d20497c6b
21:47614484 LSS C>T	21	47614484	47614484	C	T	LSS	c.1909G>A	NM_002340.6	NP_002331.3:p.(Glu637Lys)	NC_000021.8:g.47614484C>T	VUS	1 lab	5d20c90829
X:17745367 NHS C>T	X	17745367	17745367	C	T	NHS	c.3141C>T	NM_001291867.1	NP_001278796.1:p.(Pro1047=)	NC_000023.10:g.17745367C>T	(Likely) benign	1 lab	5d22ecb236
5:43704354 NNT C>T	5	43704354	43704354	C	T	NNT	c.3112-3C>T	NM_012343.3	NP_036475.3:p.?	NC_000005.9:g.43704354C>T	(Likely) benign	1 lab	5d23695486
14:105416516 AHNAK2 C>T	14	105416516	105416516	C	T	AHNAK2	c.5272G>A	NM_138420.3	NP_612429.2:p.(Gly1758Ser)	NC_000014.8:g.105416516C>T	VUS	1 lab	5d25bec215
17:17700013 RAI1 G>A	17	17700013	17700013	G	A	RAI1	c.3751G>A	NM_030665.3	NP_109590.3:p.(Ala1251Thr)	NC_000017.10:g.17700013G>A	(Likely) benign	1 lab	5d25d0fce9
5:122425899 PRDM6 C>G	5	122425899	122425899	C	G	PRDM6	c.190C>G	NM_001136239.3	NP_001129711.1:p.(Pro64Ala)	NC_000005.9:g.122425899C>G	(Likely) benign	1 lab	5d25f40b18
3:184064408 CLCN2 C>T	3	184064408	184064408	C	T	CLCN2	c.2683G>A	NM_004366.5	NP_004357.3:p.(Asp895Asn)	NC_000003.11:g.184064408C>T	(Likely) benign	1 lab	5d28e8e790
16:50744681 NOD2 C>T	16	50744681	50744681	C	T	NOD2	c.859C>T	NM_022162.1	NP_071445.1:p.(His287Tyr)	NC_000016.9:g.50744681C>T	VUS	1 lab	5d292f4838
1:150530505 ADAMTSL4 T>TG	1	150530505	150530513	T	TG	ADAMTSL4	c.2270dup	NM_019032.5	NP_061905.2:p.(Gly758TrpfsTer59)	NC_000001.10:g.150530513dup	(Likely) pathogenic	1 lab	5d29319ffe
20:60893989 LAMA5 C>T	20	60893989	60893989	C	T	LAMA5	c.6952G>A	NM_005560.4	NP_005551.3:p.(Glu2318Lys)	NC_000020.10:g.60893989C>T	VUS	1 lab	5d2a38a303
16:11066800 CLEC16A A>G	16	11066800	11066800	A	G	CLEC16A	c.610A>G	NM_015226.2	NP_056041.1:p.(Asn204Asp)	NC_000016.9:g.11066800A>G	VUS	1 lab	5d2adc0efd
13:32914420 BRCA2 G>T	13	32914420	32914420	G	T	BRCA2	c.5928G>T	NM_000059.3	NP_000050.2:p.(Gly1976=)	NC_000013.10:g.32914420G>T	(Likely) benign	1 lab	5d2c26580d
7:73254408 METTL27 C>T	7	73254408	73254408	C	T	METTL27	c.431G>A	NM_152559.2	NP_689772.2:p.(Gly144Asp)	NC_000007.13:g.73254408C>T	VUS	1 lab	5d2c687ea6
17:29556048 NF1 T>TGAAAGCCTTCACAA	17	29556048	29556064	T	TGAAAGCCTTCACAA	NF1	c.2418_2431dup	NM_000267.3	NP_000258.1:p.(Thr811LysfsTer15)	NC_000017.10:g.29556051_29556064dup	(Likely) pathogenic	1 lab	5d2cfe9f20
1:39818804 MACF1 G>A	1	39818804	39818804	G	A	MACF1	c.5139G>A	NM_012090.5	NP_036222.3:p.(Ser1713=)	NC_000001.10:g.39818804G>A	(Likely) benign	1 lab	5d2fe569c7
X:71522753 CITED1 G>C	X	71522753	71522753	G	C	CITED1	c.45C>G	NM_001144885.1	NP_001138357.1:p.(Pro15=)	NC_000023.10:g.71522753G>C	(Likely) benign	1 lab	5d311febcf
2:143790837 KYNU C>T	2	143790837	143790837	C	T	KYNU	c.988C>T	NM_001199241.1	NP_001186170.1:p.(Arg330Ter)	NC_000002.11:g.143790837C>T	(Likely) pathogenic	1 lab	5d32a12d49
2:219553528 STK36 C>G	2	219553528	219553528	C	G	STK36	c.1489C>G	NM_015690.4	NP_056505.2:p.(Arg497Gly)	NC_000002.11:g.219553528C>G	VUS	1 lab	5d33306e32
18:43495965 EPG5 G>A	18	43495965	43495965	G	A	EPG5	c.3582+9C>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43495965G>A	(Likely) benign	1 lab	5d33f24d8c
19:5071058 KDM4B C>A	19	5071058	5071058	C	A	KDM4B	c.664C>A	NM_015015.3	NP_055830.1:p.(Arg222=)	NC_000019.9:g.5071058C>A	(Likely) benign	1 lab	5d341e1b2c
17:40764505 TUBG1 T>C	17	40764505	40764505	T	C	TUBG1	c.460T>C	NM_001070.4	NP_001061.2:p.(Leu154=)	NC_000017.10:g.40764505T>C	(Likely) benign	1 lab	5d3424bcc6
17:57094760 TRIM37 G>C	17	57094760	57094760	G	C	TRIM37	c.2283C>G	NM_001353084.1	NP_001340013.1:p.(Pro761=)	NC_000017.10:g.57094760G>C	(Likely) benign	1 lab	5d3477fa02
4:187519226 FAT1 C>T	4	187519226	187519226	C	T	FAT1	c.12157G>A	NM_005245.4	NP_005236.2:p.(Val4053Ile)	NC_000004.11:g.187519226C>T	VUS	1 lab	f31de1987f
X:70601712 TAF1 C>T	X	70601712	70601712	C	T	TAF1	c.1540C>T	NM_001286074.1	NP_001273003.1:p.(Arg514Trp)	NC_000023.10:g.70601712C>T	(Likely) benign	1 lab	5d354aca04
X:110491107 CAPN6 G>T	X	110491107	110491107	G	T	CAPN6	c.1598C>A	NM_014289.3	NP_055104.2:p.(Ala533Asp)	NC_000023.10:g.110491107G>T	(Likely) benign	1 lab	5d35fc152e
1:197297688 CRB1 C>T	1	197297688	197297688	C	T	CRB1	c.207C>T	NM_201253.2	NP_957705.1:p.(Asn69=)	NC_000001.10:g.197297688C>T	(Likely) benign	1 lab	5d35fef911
16:2140535 PKD1 C>T	16	2140535	2140535	C	T	PKD1	c.12195G>A	NM_001009944.2	NP_001009944.2:p.(Leu4065=)	NC_000016.9:g.2140535C>T	(Likely) benign	1 lab	5d373371d4
8:21982989 HR C>A	8	21982989	21982989	C	A	HR	c.1585G>T	NM_005144.4	NP_005135.2:p.(Glu529Ter)	NC_000008.10:g.21982989C>A	(Likely) pathogenic	1 lab	5d397b1bfc
6:137147466 PEX7 G>A	6	137147466	137147466	G	A	PEX7	c.198G>A	NM_000288.3	NP_000279.1:p.(Trp66Ter)	NC_000006.11:g.137147466G>A	(Likely) pathogenic	1 lab	5d3a2d5052
2:178416692 IFT70B T>A	2	178416692	178416692	T	A	IFT70B	c.800A>T	NM_152517.2	NP_689730.2:p.(Tyr267Phe)	NC_000002.11:g.178416692T>A	(Likely) benign	1 lab	5d3c3c65f8
10:102568941 PAX2 C>G	10	102568941	102568941	C	G	PAX2	c.867C>G	NM_003988.4	NP_003979.2:p.(Asn289Lys)	NC_000010.10:g.102568941C>G	(Likely) benign	1 lab	5d3d1326d2
16:49671435 ZNF423 A>G	16	49671435	49671435	A	G	ZNF423	c.1448T>C	NM_001271620.2	NP_001258549.1:p.(Val483Ala)	NC_000016.9:g.49671435A>G	(Likely) benign	1 lab	5d3d85f686
12:116421009 MED13L G>A	12	116421009	116421009	G	A	MED13L	c.4868C>T	NM_015335.4	NP_056150.1:p.(Ala1623Val)	NC_000012.11:g.116421009G>A	(Likely) benign	1 lab	5d3e3fdf14
19:38572993 SIPA1L3 A>G	19	38572993	38572993	A	G	SIPA1L3	c.788A>G	NM_015073.2	NP_055888.1:p.(Asn263Ser)	NC_000019.9:g.38572993A>G	(Likely) benign	1 lab	5d3e8d4e4f
20:3214891 SLC4A11 C>A	20	3214891	3214891	C	A	SLC4A11	c.490G>T	NM_001174090.1	NP_001167561.1:p.(Ala164Ser)	NC_000020.10:g.3214891C>A	VUS	1 lab	5d3f18f9ee
1:240370927 FMN2 GGAGCGGGAATACCTCCTCCGCCCC>G	1	240370927	240370951	GGAGCGGGAATACCTCCTCCGCCCC	G	FMN2	c.2816_2839del	NM_020066.5	NP_064450.3:p.(Gly939_Pro947delinsAla)	NC_000001.10:g.240370928_240370951del	VUS	1 lab	5d3f8e8a73
X:62926287 ARHGEF9 C>T	X	62926287	62926287	C	T	ARHGEF9	c.232G>A	NM_015185.2	NP_056000.1:p.(Asp78Asn)	NC_000023.10:g.62926287C>T	(Likely) benign	1 lab	5d404ccd4e
22:40757516 ADSL G>A	22	40757516	40757516	G	A	ADSL	c.887G>A	NM_000026.3	NP_000017.1:p.(Arg296Gln)	NC_000022.10:g.40757516G>A	VUS	1 lab	5d40e895ac
9:131397011 DYNC2I2 G>C	9	131397011	131397011	G	C	DYNC2I2	c.1171C>G	NM_052844.3	NP_443076.2:p.(His391Asp)	NC_000009.11:g.131397011G>C	VUS	1 lab	5d45b59528
17:34964443 MRM1 C>G	17	34964443	34964443	C	G	MRM1	c.878C>G	NM_024864.5	NP_079140.2:p.(Ser293Cys)	NC_000017.10:g.34964443C>G	VUS	1 lab	5d45e3ca3e
18:56940241 RAX C>T	18	56940241	56940241	C	T	RAX	c.198G>A	NM_013435.2	NP_038463.2:p.(Arg66=)	NC_000018.9:g.56940241C>T	(Likely) benign	1 lab	5d46e964e5
10:70987029 HKDC1 C>T	10	70987029	70987029	C	T	HKDC1	c.130C>T	NM_025130.3	NP_079406.3:p.(Arg44Trp)	NC_000010.10:g.70987029C>T	VUS	1 lab	5d49d00df7
14:103372103 TRAF3 G>A	14	103372103	103372103	G	A	TRAF3	c.1689G>A	NM_145725.2	NP_663777.1:p.(Ser563=)	NC_000014.8:g.103372103G>A	(Likely) benign	1 lab	5d4aa3c3d6
3:53529194 CACNA1D A>G	3	53529194	53529194	A	G	CACNA1D	c.1A>G	NM_000720.3	NP_000711.1:p.(Met1?)	NC_000003.11:g.53529194A>G	VUS	1 lab	5d4bf62d91
10:88672095 BMPR1A T>C	10	88672095	88672095	T	C	BMPR1A	c.629T>C	NM_004329.2	NP_004320.2:p.(Ile210Thr)	NC_000010.10:g.88672095T>C	VUS	1 lab	5d4e7ac618
16:16292001 ABCC6 C>T	16	16292001	16292001	C	T	ABCC6	c.1215G>A	NM_001171.5	NP_001162.4:p.(Ala405=)	NC_000016.9:g.16292001C>T	(Likely) benign	1 lab	5d523ec111
3:184039237 EIF4G1 A>G	3	184039237	184039237	A	G	EIF4G1	c.865A>G	NM_182917.4	NP_886553.3:p.(Thr289Ala)	NC_000003.11:g.184039237A>G	(Likely) benign	1 lab	5d5272d244
19:4818243 TICAM1 C>T	19	4818243	4818243	C	T	TICAM1	c.147G>A	NM_182919.3	NP_891549.1:p.(Leu49=)	NC_000019.9:g.4818243C>T	(Likely) benign	1 lab	5d527c51f4
1:36565091 COL8A2 GAGAA>G	1	36565091	36565102	GAGAA	G	COL8A2	c.194-7_194-4del	NM_005202.4	NP_005193.1:p.?	NC_000001.10:g.36565099_36565102del	(Likely) benign	1 lab	5d538232a0
X:70354686 MED12 G>A	X	70354686	70354686	G	A	MED12	c.4851G>A	NM_005120.2	NP_005111.2:p.(Ala1617=)	NC_000023.10:g.70354686G>A	(Likely) benign	1 lab	5d5451cd8a
8:48771426 PRKDC G>A	8	48771426	48771426	G	A	PRKDC	c.6329C>T	NM_006904.6	NP_008835.5:p.(Pro2110Leu)	NC_000008.10:g.48771426G>A	(Likely) benign	1 lab	5d55b404a9
7:33138997 RP9 G>A	7	33138997	33138997	G	A	RP9	c.235C>T	NM_203288.1	NP_976033.1:p.(His79Tyr)	NC_000007.13:g.33138997G>A	VUS	1 lab	5d55fb0e56
15:65491075 CILP C>T	15	65491075	65491075	C	T	CILP	c.1549G>A	NM_003613.3	NP_003604.3:p.(Val517Ile)	NC_000015.9:g.65491075C>T	(Likely) benign	1 lab	5d562b268e
3:127323806 MCM2 C>T	3	127323806	127323806	C	T	MCM2	c.480C>T	NM_004526.3	NP_004517.2:p.(Asp160=)	NC_000003.11:g.127323806C>T	(Likely) benign	1 lab	5d564330cf
7:107350548 SLC26A4 T>G	7	107350548	107350548	T	G	SLC26A4	c.2139T>G	NM_000441.1	NP_000432.1:p.(Ile713Met)	NC_000007.13:g.107350548T>G	(Likely) benign	1 lab	5d57adc85a
X:49082952 CACNA1F G>A	X	49082952	49082952	G	A	CACNA1F	c.1415C>T	NM_005183.3	NP_005174.2:p.(Ala472Val)	NC_000023.10:g.49082952G>A	VUS	1 lab	5d587e67cb
2:73717577 ALMS1 A>C	2	73717577	73717577	A	C	ALMS1	c.8494A>C	NM_015120.4	NP_055935.4:p.(Ser2832Arg)	NC_000002.11:g.73717577A>C	VUS	1 lab	5d59685754
16:29824360 PRRT2 C>T	16	29824360	29824360	C	T	PRRT2	c.-16C>T	NM_001256443.2	NP_001243372.1:p.?	NC_000016.9:g.29824360C>T	(Likely) benign	1 lab	f3215dc9f5
18:43445585 EPG5 G>A	18	43445585	43445585	G	A	EPG5	c.6761C>T	NM_020964.3	NP_066015.2:p.(Pro2254Leu)	NC_000018.9:g.43445585G>A	VUS	1 lab	5d5aa9864d
16:2121604 TSC2 G>GT	16	2121604	2121605	G	GT	TSC2	c.1934dup	NM_000548.3	NP_000539.2:p.(Cys646LeufsTer11)	NC_000016.9:g.2121605dup	(Likely) pathogenic	1 lab	5d5ba15a8a
20:17475217 BFSP1 C>T	20	17475217	17475217	C	T	BFSP1	c.1500G>A	NM_001195.5	NP_001186.1:p.(Ala500=)	NC_000020.10:g.17475217C>T	(Likely) benign	1 lab	f321baae4c
X:119590577 LAMP2 T>A	X	119590577	119590577	T	A	LAMP2	c.112A>T	NM_002294.2	NP_002285.1:p.(Asn38Tyr)	NC_000023.10:g.119590577T>A	VUS	1 lab	5d5ed64858
1:120512104 NOTCH2 T>C	1	120512104	120512104	T	C	NOTCH2	c.1108+30A>G	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120512104T>C	(Likely) benign	1 lab	5d5efe1dc6
19:44679763 ZNF226 C>T	19	44679763	44679763	C	T	ZNF226	c.348C>T	NM_001032372.1	NP_001027544.1:p.(Asp116=)	NC_000019.9:g.44679763C>T	(Likely) benign	1 lab	5d5f3f9f96
6:159657279 FNDC1 G>A	6	159657279	159657279	G	A	FNDC1	c.4000G>A	NM_032532.3	NP_115921.2:p.(Val1334Ile)	NC_000006.11:g.159657279G>A	(Likely) benign	1 lab	5d60163ac5
X:147010319 FMR1 G>A	X	147010319	147010319	G	A	FMR1	c.413G>A	NM_002024.5	NP_002015.1:p.(Arg138Gln)	NC_000023.10:g.147010319G>A	VUS	1 lab	5d61356827
3:46245314 CCR1 G>A	3	46245314	46245314	G	A	CCR1	c.491C>T	NM_001295.3	NP_001286.1:p.(Ala164Val)	NC_000003.11:g.46245314G>A	(Likely) benign	1 lab	5d62385d9c
15:52664431 MYO5A G>A	15	52664431	52664431	G	A	MYO5A	c.2707C>T	NM_000259.3	NP_000250.3:p.(Arg903Cys)	NC_000015.9:g.52664431G>A	VUS	1 lab	5d624f812d
2:197194337 HECW2 T>C	2	197194337	197194337	T	C	HECW2	c.533A>G	NM_020760.3	NP_065811.1:p.(Asn178Ser)	NC_000002.11:g.197194337T>C	(Likely) benign	1 lab	5d627d8394
19:1220489 STK11 C>A	19	1220489	1220489	C	A	STK11	c.582C>A	NM_000455.4	NP_000446.1:p.(Asp194Glu)	NC_000019.9:g.1220489C>A	(Likely) pathogenic	1 lab	5d62ea898f
X:133627615 HPRT1 C>T	X	133627615	133627615	C	T	HPRT1	c.480C>T	NM_000194.2	NP_000185.1:p.(Val160=)	NC_000023.10:g.133627615C>T	(Likely) benign	1 lab	5d6424c9e3
17:19263689 B9D1 C>T	17	19263689	19263689	C	T	B9D1	c.3G>A	NM_001243475.1	NP_001230404.1:p.(Met1?)	NC_000017.10:g.19263689C>T	VUS	1 lab	5d646a5f3e
18:47516867 MYO5B G>A	18	47516867	47516867	G	A	MYO5B	c.780C>T	NM_001080467.2	NP_001073936.1:p.(His260=)	NC_000018.9:g.47516867G>A	(Likely) benign	1 lab	5d65081f00
7:117513429 CTTNBP2 C>T	7	117513429	117513429	C	T	CTTNBP2	c.41G>A	NM_033427.2	NP_219499.1:p.(Arg14Gln)	NC_000007.13:g.117513429C>T	VUS	1 lab	5d675d617a
22:35661574 HMGXB4 AAG>A	22	35661574	35661588	AAG	A	HMGXB4	c.1206_1207del	NM_001003681.3	NP_001003681.1:p.(Gly403ArgfsTer16)	NC_000022.10:g.35661587_35661588del	(Likely) benign	1 lab	5d69652517
16:2110820 TSC2 G>C	16	2110820	2110820	G	C	TSC2	c.1119+6G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110820G>C	(Likely) benign	1 lab	5d6a925051
X:153247690 TMEM187 C>T	X	153247690	153247690	C	T	TMEM187	c.177C>T	NM_003492.2	NP_003483.1:p.(Leu59=)	NC_000023.10:g.153247690C>T	(Likely) benign	1 lab	5d6ca7c834
10:121436482 BAG3 A>G	10	121436482	121436482	A	G	BAG3	c.1416A>G	NM_004281.3	NP_004272.2:p.(Gly472=)	NC_000010.10:g.121436482A>G	(Likely) benign	1 lab	5d7091087b
4:170601294 CLCN3 A>G	4	170601294	170601294	A	G	CLCN3	c.254A>G	NM_173872.3	NP_776297.2:p.(Tyr85Cys)	NC_000004.11:g.170601294A>G	VUS	1 lab	5d709ce342
8:42725178 RNF170 C>T	8	42725178	42725178	C	T	RNF170	c.291G>A	NM_001160223.1	NP_001153695.1:p.(Pro97=)	NC_000008.10:g.42725178C>T	(Likely) benign	1 lab	5d70ab4f2e
2:163130324 IFIH1 T>C	2	163130324	163130324	T	C	IFIH1	c.2435A>G	NM_022168.4	NP_071451.2:p.(Asn812Ser)	NC_000002.11:g.163130324T>C	VUS	1 lab	5d716c552e
2:212288901 ERBB4 C>T	2	212288901	212288901	C	T	ERBB4	c.2845G>A	NM_005235.2	NP_005226.1:p.(Val949Ile)	NC_000002.11:g.212288901C>T	VUS	1 lab	5d73c79d15
14:21679387 HNRNPC AGTCATCCTCGCCATTGGCGCTGTCTCT>A	14	21679387	21679423	AGTCATCCTCGCCATTGGCGCTGTCTCT	A	HNRNPC	c.850_876del	NM_004500.4	NP_004491.2:p.(Arg284_Asp292del)	NC_000014.8:g.21679397_21679423del	VUS	1 lab	5d75a832b6
13:100959469 PCCA A>C	13	100959469	100959469	A	C	PCCA	c.1308A>C	NM_000282.3	NP_000273.2:p.(Gln436His)	NC_000013.10:g.100959469A>C	VUS	1 lab	5d76253af6
X:135592330 HTATSF1 T>A	X	135592330	135592330	T	A	HTATSF1	c.1014T>A	NM_001163280.1	NP_001156752.1:p.(Gly338=)	NC_000023.10:g.135592330T>A	(Likely) benign	1 lab	5d771745ab
10:115905496 CCDC186 G>A	10	115905496	115905496	G	A	CCDC186	c.913C>T	NM_001321829.1	NP_001308758.1:p.(Arg305Cys)	NC_000010.10:g.115905496G>A	VUS	1 lab	5d77f2363e
11:31824341 PAX6 C>G	11	31824341	31824341	C	G	PAX6	c.52G>C	NM_001310158.1	NP_001297087.1:p.(Gly18Arg)	NC_000011.9:g.31824341C>G	VUS	1 lab	5d78579781
15:66996353 SMAD6 G>C	15	66996353	66996353	G	C	SMAD6	c.757G>C	NM_005585.4	NP_005576.3:p.(Ala253Pro)	NC_000015.9:g.66996353G>C	VUS	1 lab	5d7a05b166
X:55054234 ALAS2 C>T	X	55054234	55054234	C	T	ALAS2	c.7G>A	NM_001037968.3	NP_001033057.1:p.(Gly3Arg)	NC_000023.10:g.55054234C>T	(Likely) benign	1 lab	5d7b17bfc3
17:80788237 ZNF750 C>T	17	80788237	80788237	C	T	ZNF750	c.1953G>A	NM_024702.2	NP_078978.2:p.(Val651=)	NC_000017.10:g.80788237C>T	VUS	1 lab	5d7c929c0a
X:19389113 MAP3K15 G>A	X	19389113	19389113	G	A	MAP3K15	c.3364C>T	NM_001001671.3	NP_001001671.3:p.(Arg1122Ter)	NC_000023.10:g.19389113G>A	(Likely) benign	1 lab	5d7ca7d0d9
9:100257997 TDRD7 T>C	9	100257997	100257997	T	C	TDRD7	c.3129T>C	NM_014290.2	NP_055105.2:p.(His1043=)	NC_000009.11:g.100257997T>C	(Likely) benign	1 lab	5d7f815c7c
7:112112809 IFRD1 C>G	7	112112809	112112809	C	G	IFRD1	c.1171-12C>G	NM_001550.3	NP_001541.2:p.?	NC_000007.13:g.112112809C>G	(Likely) benign	1 lab	5d80772c2d
X:53280094 IQSEC2 G>C	X	53280094	53280094	G	C	IQSEC2	c.1664C>G	NM_001111125.3	NP_001104595.1:p.(Pro555Arg)	NC_000023.10:g.53280094G>C	VUS	1 lab	f323e5972c
3:114058205 ZBTB20 T>C	3	114058205	114058205	T	C	ZBTB20	c.1873A>G	NM_001348803.3	NP_001335732.1:p.(Met625Val)	NC_000003.11:g.114058205T>C	(Likely) pathogenic	1 lab	f3253f8f42
12:70072535 BEST3 A>T	12	70072535	70072535	A	T	BEST3	c.620T>A	NM_032735.3	NP_116124.2:p.(Leu207Gln)	NC_000012.11:g.70072535A>T	VUS	1 lab	5d852840a0
7:131194346 PODXL T>C	7	131194346	131194346	T	C	PODXL	c.803-2A>G	NM_001018111.2	NP_001018121.1:p.?	NC_000007.13:g.131194346T>C	VUS	1 lab	5d86aea5d5
11:66472775 SPTBN2 G>A	11	66472775	66472775	G	A	SPTBN2	c.1972C>T	NM_006946.3	NP_008877.1:p.(Arg658Trp)	NC_000011.9:g.66472775G>A	VUS	1 lab	5d89b3d613
X:136113077 GPR101 T>G	X	136113077	136113077	T	G	GPR101	c.757A>C	NM_054021.1	NP_473362.1:p.(Lys253Gln)	NC_000023.10:g.136113077T>G	(Likely) benign	1 lab	5d8bc4bf18
15:100636681 ADAMTS17 T>C	15	100636681	100636681	T	C	ADAMTS17	c.2017A>G	NM_139057.3	NP_620688.2:p.(Lys673Glu)	NC_000015.9:g.100636681T>C	VUS	1 lab	5d8d0a5ea5
8:41522422 ANK1 G>T	8	41522422	41522422	G	T	ANK1	c.120C>A	NM_020478.4	NP_065211.2:p.(Ile40=)	NC_000008.10:g.41522422G>T	(Likely) benign	1 lab	5d8ecbd829
2:223158947 PAX3 C>G	2	223158947	223158947	C	G	PAX3	c.525G>C	NM_181458.3	NP_852123.1:p.(Lys175Asn)	NC_000002.11:g.223158947C>G	(Likely) benign	1 lab	5d8fb63801
11:17663747 OTOG G>A	11	17663747	17663747	G	A	OTOG	c.8405G>A	NM_001277269.1	NP_001264198.1:p.(Arg2802His)	NC_000011.9:g.17663747G>A	(Likely) benign	1 lab	5d90608188
X:25031776 ARX T>TGCCGCC	X	25031776	25031808	T	TGCCGCC	ARX	c.330_335dup	NM_139058.2	NP_620689.1:p.(Ala114_Ala115dup)	NC_000023.10:g.25031803_25031808dup	(Likely) pathogenic	1 lab	5d92bf2ae9
7:44148747 AEBP1 G>A	7	44148747	44148747	G	A	AEBP1	c.1060G>A	NM_001129.4	NP_001120.3:p.(Asp354Asn)	NC_000007.13:g.44148747G>A	(Likely) benign	1 lab	5d92c1eb05
7:100226889 TFR2 G>A	7	100226889	100226889	G	A	TFR2	c.1377C>T	NM_003227.3	NP_003218.2:p.(Ser459=)	NC_000007.13:g.100226889G>A	(Likely) benign	1 lab	5d9495825f
11:31815202 PAX6 G>A	11	31815202	31815202	G	A	PAX6	c.956C>T	NM_001604.5	NP_001595.2:p.(Pro319Leu)	NC_000011.9:g.31815202G>A	VUS	1 lab	5d96c5e5a0
9:139265405 CARD9 C>T	9	139265405	139265405	C	T	CARD9	c.515G>A	NM_052813.4	NP_434700.2:p.(Ser172Asn)	NC_000009.11:g.139265405C>T	(Likely) benign	1 lab	5d96f3ac94
4:89039336 ABCG2 G>A	4	89039336	89039336	G	A	ABCG2	c.766C>T	NM_004827.2	NP_004818.2:p.(Leu256Phe)	NC_000004.11:g.89039336G>A	VUS	1 lab	5d9889f1f6
11:108163326 ATM T>G	11	108163326	108163326	T	G	ATM	c.4437-20T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108163326T>G	(Likely) benign	1 lab	5d98c705bf
19:49899051 KASH5 G>A	19	49899051	49899051	G	A	KASH5	c.361G>A	NM_144688.5	NP_653289.3:p.(Ala121Thr)	NC_000019.9:g.49899051G>A	VUS	1 lab	5d9a49f130
17:26096590 NOS2 G>A	17	26096590	26096590	G	A	NOS2	c.1830C>T	NM_000625.4	NP_000616.3:p.(Phe610=)	NC_000017.10:g.26096590G>A	(Likely) benign	1 lab	5d9c7cb36a
18:77474992 CTDP1 C>T	18	77474992	77474992	C	T	CTDP1	c.1532C>T	NM_004715.4	NP_004706.3:p.(Pro511Leu)	NC_000018.9:g.77474992C>T	(Likely) benign	1 lab	5d9db1b574
9:2039776 SMARCA2 ACAGCAGCAGCAGCAGCAGCAG>A	9	2039776	2039817	ACAGCAGCAGCAGCAGCAGCAG	A	SMARCA2	c.687_707del	NM_003070.5	NP_003061.3:p.(Gln232_Gln238del)	NC_000009.11:g.2039797_2039817del	VUS	1 lab	5da1edf91d
17:1637159 WDR81 G>A	17	1637159	1637159	G	A	WDR81	c.4828G>A	NM_001163809.1	NP_001157281.1:p.(Val1610Met)	NC_000017.10:g.1637159G>A	(Likely) benign	1 lab	5da5e781e5
16:70292997 AARS1 G>A	16	70292997	70292997	G	A	AARS1	c.1878C>T	NM_001605.2	NP_001596.2:p.(Gly626=)	NC_000016.9:g.70292997G>A	(Likely) benign	1 lab	5da641e055
15:43821387 MAP1A T>A	15	43821387	43821387	T	A	MAP1A	c.7716T>A	NM_002373.6	NP_002364.5:p.(Pro2572=)	NC_000015.9:g.43821387T>A	(Likely) benign	1 lab	5da8c29f71
17:62523328 CEP95 C>A	17	62523328	62523328	C	A	CEP95	c.1252C>A	NM_138363.3	NP_612372.1:p.(Leu418Met)	NC_000017.10:g.62523328C>A	VUS	1 lab	5da922cd64
9:289555 DOCK8 C>G	9	289555	289555	C	G	DOCK8	c.378C>G	NM_203447.3	NP_982272.2:p.(Ile126Met)	NC_000009.11:g.289555C>G	(Likely) benign	1 lab	5daa234241
X:128657260 SMARCA1 C>G	X	128657260	128657260	C	G	SMARCA1	c.88G>C	NM_003069.4	NP_003060.2:p.(Gly30Arg)	NC_000023.10:g.128657260C>G	(Likely) benign	1 lab	5dab9729da
X:129149858 BCORL1 G>A	X	129149858	129149858	G	A	BCORL1	c.3110G>A	NM_001184772.2	NP_001171701.1:p.(Arg1037His)	NC_000023.10:g.129149858G>A	VUS	1 lab	5dad3817df
19:50312659 FUZ C>T	19	50312659	50312659	C	T	FUZ	c.666G>A	NM_025129.4	NP_079405.2:p.(Val222=)	NC_000019.9:g.50312659C>T	(Likely) benign	1 lab	5dae6d17c9
15:44955650 SPG11 G>A	15	44955650	44955650	G	A	SPG11	c.196C>T	NM_025137.3	NP_079413.3:p.(Leu66Phe)	NC_000015.9:g.44955650G>A	(Likely) benign	1 lab	5daeae7769
22:42458950 NAGA G>T	22	42458950	42458950	G	T	NAGA	c.838C>A	NM_000262.2	NP_000253.1:p.(Leu280Ile)	NC_000022.10:g.42458950G>T	VUS	1 lab	5daed0cb27
3:123666140 CCDC14 C>T	3	123666140	123666140	C	T	CCDC14	c.711G>A	NM_001366335.1	NP_001353264.1:p.(Gln237=)	NC_000003.11:g.123666140C>T	(Likely) benign	1 lab	5db0451b9d
5:179248121 SQSTM1 G>T	5	179248121	179248121	G	T	SQSTM1	c.185G>T	NM_003900.5	NP_003891.1:p.(Gly62Val)	NC_000005.9:g.179248121G>T	VUS	1 lab	5db1bfa317
19:17949090 JAK3 A>T	19	17949090	17949090	A	T	JAK3	c.1551T>A	NM_000215.3	NP_000206.2:p.(Pro517=)	NC_000019.9:g.17949090A>T	(Likely) benign	1 lab	5db3108c2c
16:84211403 DNAAF1 C>G	16	84211403	84211403	C	G	DNAAF1	c.2134C>G	NM_178452.5	NP_848547.4:p.(Pro712Ala)	NC_000016.9:g.84211403C>G	(Likely) benign	1 lab	5db31bc88e
17:42426574 GRN G>A	17	42426574	42426574	G	A	GRN	c.42G>A	NM_002087.2	NP_002078.1:p.(Leu14=)	NC_000017.10:g.42426574G>A	(Likely) benign	1 lab	5db5eb55da
12:50041566 FMNL3 G>A	12	50041566	50041566	G	A	FMNL3	c.2698C>T	NM_175736.5	NP_783863.4:p.(Arg900Cys)	NC_000012.11:g.50041566G>A	VUS	1 lab	5db5f1a4c3
3:142242985 ATR C>T	3	142242985	142242985	C	T	ATR	c.4002G>A	NM_001184.3	NP_001175.2:p.(Gln1334=)	NC_000003.11:g.142242985C>T	(Likely) benign	1 lab	5db6f210f7
14:103474832 CDC42BPB A>G	14	103474832	103474832	A	G	CDC42BPB	c.328T>C	NM_006035.4	NP_006026.3:p.(Trp110Arg)	NC_000014.8:g.103474832A>G	VUS	1 lab	f32607804e
16:50745016 NOD2 C>T	16	50745016	50745016	C	T	NOD2	c.1194C>T	NM_022162.1	NP_071445.1:p.(Thr398=)	NC_000016.9:g.50745016C>T	(Likely) benign	1 lab	5dba0f9581
X:135477612 ADGRG4 T>C	X	135477612	135477612	T	C	ADGRG4	c.8144T>C	NM_153834.3	NP_722576.3:p.(Ile2715Thr)	NC_000023.10:g.135477612T>C	(Likely) benign	1 lab	5dba457be1
X:65423304 HEPH C>T	X	65423304	65423304	C	T	HEPH	c.2338C>T	NM_138737.4	NP_620074.3:p.(Arg780Cys)	NC_000023.10:g.65423304C>T	VUS	1 lab	5dbaf0fcfe
5:172661935 NKX2-5 A>C	5	172661935	172661935	A	C	NKX2-5	c.152T>G	NM_001166175.1	NP_001159647.1:p.(Phe51Cys)	NC_000005.9:g.172661935A>C	VUS	1 lab	5dbca67052
19:619608 POLRMT C>T	19	619608	619608	C	T	POLRMT	c.3044G>A	NM_005035.3	NP_005026.3:p.(Arg1015Gln)	NC_000019.9:g.619608C>T	VUS	1 lab	5dbec5606b
16:222979 HBA2 GC>G	16	222979	222980	GC	G	HBA2	c.69del	NM_000517.6	NP_000508.1:p.(Glu24SerfsTer26)	NC_000016.9:g.222980del	(Likely) pathogenic	1 lab	5dbf6261bc
19:15760771 CYP4F3 G>A	19	15760771	15760771	G	A	CYP4F3	c.696G>A	NM_000896.2	NP_000887.2:p.(Val232=)	NC_000019.9:g.15760771G>A	VUS	1 lab	5dc05c0eac
X:153219110 HCFC1 C>T	X	153219110	153219110	C	T	HCFC1	c.4445G>A	NM_005334.3	NP_005325.2:p.(Arg1482Gln)	NC_000023.10:g.153219110C>T	VUS	1 lab	f3265dfbe3
17:40359649 STAT5B G>A	17	40359649	40359649	G	A	STAT5B	c.2004C>T	NM_012448.3	NP_036580.2:p.(Tyr668=)	NC_000017.10:g.40359649G>A	(Likely) benign	1 lab	5dc316dac3
15:28510988 HERC2 G>A	15	28510988	28510988	G	A	HERC2	c.1731C>T	NM_004667.5	NP_004658.3:p.(Arg577=)	NC_000015.9:g.28510988G>A	(Likely) benign	1 lab	5dc506f953
4:110687842 CFI G>T	4	110687842	110687842	G	T	CFI	c.196C>A	NM_001318057.1	NP_001304986.1:p.(Gln66Lys)	NC_000004.11:g.110687842G>T	VUS	1 lab	5dc63407f5
6:152565694 SYNE1 A>C	6	152565694	152565694	A	C	SYNE1	c.19457T>G	NM_033071.4	NP_149062.2:p.(Met6486Arg)	NC_000006.11:g.152565694A>C	VUS	1 lab	f32d0f5ecc
X:153220286 HCFC1 C>T	X	153220286	153220286	C	T	HCFC1	c.3564G>A	NM_005334.2	NP_005325.2:p.(Ser1188=)	NC_000023.10:g.153220286C>T	(Likely) benign	1 lab	5dc9579840
9:27205042 TEK G>T	9	27205042	27205042	G	T	TEK	c.2343G>T	NM_000459.4	NP_000450.2:p.(Met781Ile)	NC_000009.11:g.27205042G>T	VUS	1 lab	5dcc75596d
X:8507773 ANOS1 G>A	X	8507773	8507773	G	A	ANOS1	c.1381C>T	NM_000216.3	NP_000207.2:p.(Arg461Trp)	NC_000023.10:g.8507773G>A	(Likely) benign	1 lab	5dcca45af6
18:28979396 DSG4 T>TATGGC	18	28979396	28979401	T	TATGGC	DSG4	c.1168_1172dup	NM_001134453.2	NP_001127925.1:p.(Phe392TrpfsTer9)	NC_000018.9:g.28979397_28979401dup	(Likely) pathogenic	1 lab	5dccc2de1b
17:29509580 NF1 G>T	17	29509580	29509580	G	T	NF1	c.785G>T	NM_000267.3	NP_000258.1:p.(Arg262Leu)	NC_000017.10:g.29509580G>T	(Likely) benign	1 lab	5dce41404c
6:111632385 REV3L A>G	6	111632385	111632385	A	G	REV3L	c.8448T>C	NM_001286431.1	NP_001273360.1:p.(Cys2816=)	NC_000006.11:g.111632385A>G	(Likely) benign	1 lab	5dcf80bd9d
19:47290914 SLC1A5 G>T	19	47290914	47290914	G	T	SLC1A5	c.309C>A	NM_005628.3	NP_005619.1:p.(Ile103=)	NC_000019.9:g.47290914G>T	(Likely) benign	1 lab	5dd2ef08ae
22:50659595 TUBGCP6 C>T	22	50659595	50659595	C	T	TUBGCP6	c.3193G>A	NM_020461.3	NP_065194.2:p.(Glu1065Lys)	NC_000022.10:g.50659595C>T	VUS	1 lab	5dd3981eb4
20:1961074 PDYN CCA>C	20	1961074	1961077	CCA	C	PDYN	c.658_659del	NM_024411.5	NP_077722.1:p.(Trp220GlyfsTer33)	NC_000020.10:g.1961076_1961077del	VUS	1 lab	5dd4860f91
3:49568275 DAG1 G>A	3	49568275	49568275	G	A	DAG1	c.331G>A	NM_001165928.3	NP_001159400.2:p.(Asp111Asn)	NC_000003.11:g.49568275G>A	(Likely) benign	1 lab	5dd4ab8345
7:150772592 SLC4A2 G>A	7	150772592	150772592	G	A	SLC4A2	c.3298G>A	NM_001199692.2	NP_001186621.1:p.(Val1100Met)	NC_000007.13:g.150772592G>A	VUS	1 lab	5dd93994f1
19:50367658 PNKP C>T	19	50367658	50367658	C	T	PNKP	c.501G>A	NM_007254.3	NP_009185.2:p.(Val167=)	NC_000019.9:g.50367658C>T	(Likely) benign	1 lab	5ddbc5e5a1
6:31656057 ABHD16A G>A	6	31656057	31656057	G	A	ABHD16A	c.1177C>T	NM_001177515.1	NP_001170986.1:p.(Arg393Trp)	NC_000006.11:g.31656057G>A	VUS	1 lab	5ddceb9482
4:6303728 WFS1 G>A	4	6303728	6303728	G	A	WFS1	c.2206G>A	NM_006005.3	NP_005996.2:p.(Gly736Ser)	NC_000004.11:g.6303728G>A	(Likely) pathogenic	1 lab	5dde0ab2f2
14:23882987 MYH7 C>A	14	23882987	23882987	C	A	MYH7	c.5771G>T	NM_000257.4	NP_000248.2:p.(Ser1924Ile)	NC_000014.8:g.23882987C>A	VUS	1 lab	f32d5c1206
6:24836090 RIPOR2 C>T	6	24836090	24836090	C	T	RIPOR2	c.2112G>A	NM_014722.4	NP_055537.2:p.(Ser704=)	NC_000006.11:g.24836090C>T	(Likely) benign	1 lab	5de013e8ca
1:202911267 ADIPOR1 G>C	1	202911267	202911267	G	C	ADIPOR1	c.885C>G	NM_001290557.1	NP_001277486.1:p.(Thr295=)	NC_000001.10:g.202911267G>C	(Likely) benign	1 lab	5de092e45d
19:852871 ELANE C>A	19	852871	852871	C	A	ELANE	c.68-5C>A	NM_001972.2	NP_001963.1:p.?	NC_000019.9:g.852871C>A	(Likely) benign	1 lab	5de0bfd703
1:185970862 HMCN1 T>C	1	185970862	185970862	T	C	HMCN1	c.4337T>C	NM_031935.2	NP_114141.2:p.(Ile1446Thr)	NC_000001.10:g.185970862T>C	VUS	1 lab	5de49bf7bd
17:29586058 NF1 G>C	17	29586058	29586058	G	C	NF1	c.4278G>C	NM_000267.3	NP_000258.1:p.(Gln1426His)	NC_000017.10:g.29586058G>C	VUS	1 lab	5de6d21825
X:46322176 KRABD4 A>G	X	46322176	46322176	A	G	KRABD4	c.16-7A>G	NM_001129899.1	NP_001123371.1:p.?	NC_000023.10:g.46322176A>G	(Likely) benign	1 lab	5de86a18e0
16:772792 CCDC78 G>A	16	772792	772792	G	A	CCDC78	c.1298-3C>T	NM_001031737.2	NP_001026907.2:p.?	NC_000016.9:g.772792G>A	VUS	1 lab	5de8a7db46
15:83331980 AP3B2 G>A	15	83331980	83331980	G	A	AP3B2	c.2503C>T	NM_001278512.1	NP_001265441.1:p.(Pro835Ser)	NC_000015.9:g.83331980G>A	(Likely) benign	1 lab	5de8c1e98c
6:169051419 SMOC2 G>A	6	169051419	169051419	G	A	SMOC2	c.999G>A	NM_022138.2	NP_071421.1:p.(Thr333=)	NC_000006.11:g.169051419G>A	(Likely) benign	1 lab	5dea536c20
1:216011364 USH2A G>A	1	216011364	216011364	G	A	USH2A	c.9340C>T	NM_206933.2	NP_996816.2:p.(Pro3114Ser)	NC_000001.10:g.216011364G>A	(Likely) benign	1 lab	5ded623cd9
X:48549534 WAS A>G	X	48549534	48549534	A	G	WAS	c.1490A>G	NM_000377.2	NP_000368.1:p.(Asp497Gly)	NC_000023.10:g.48549534A>G	VUS	1 lab	5def123e42
17:79495954 FSCN2 G>A	17	79495954	79495954	G	A	FSCN2	c.397G>A	NM_001077182.2	NP_001070650.1:p.(Val133Met)	NC_000017.10:g.79495954G>A	VUS	1 lab	5df179e7a0
15:91825068 SV2B A>C	15	91825068	91825068	A	C	SV2B	c.1484A>C	NM_001323039.2	NP_001309968.1:p.(Glu495Ala)	NC_000015.9:g.91825068A>C	(Likely) benign	1 lab	5df2118bae
17:29701152 NF1 T>C	17	29701152	29701152	T	C	NF1	c.8436T>C	NM_000267.3	NP_000258.1:p.(Asn2812=)	NC_000017.10:g.29701152T>C	(Likely) benign	1 lab	5df4c80561
12:104042484 STAB2 G>T	12	104042484	104042484	G	T	STAB2	c.1057G>T	NM_017564.10	NP_060034.9:p.(Gly353Cys)	NC_000012.11:g.104042484G>T	VUS	1 lab	5df586f0d5
17:31082572 MYO1D C>T	17	31082572	31082572	C	T	MYO1D	c.1405G>A	NM_015194.3	NP_056009.1:p.(Glu469Lys)	NC_000017.10:g.31082572C>T	(Likely) benign	1 lab	5df5d7f557
X:48542755 WAS G>A	X	48542755	48542755	G	A	WAS	c.216G>A	NM_000377.2	NP_000368.1:p.(Val72=)	NC_000023.10:g.48542755G>A	(Likely) benign	1 lab	5df5e11606
14:99641908 BCL11B G>A	14	99641908	99641908	G	A	BCL11B	c.1265C>T	NM_138576.3	NP_612808.1:p.(Pro422Leu)	NC_000014.8:g.99641908G>A	VUS	1 lab	5df7db8ad4
X:9621694 TBL1X C>T	X	9621694	9621694	C	T	TBL1X	c.68C>T	NM_005647.3	NP_005638.1:p.(Ser23Leu)	NC_000023.10:g.9621694C>T	(Likely) benign	1 lab	5df83d76aa
3:48728839 IP6K2 T>C	3	48728839	48728839	T	C	IP6K2	c.505A>G	NM_016291.4	NP_057375.2:p.(Ile169Val)	NC_000003.11:g.48728839T>C	VUS	1 lab	5df957adc6
20:10632809 JAG1 C>A	20	10632809	10632809	C	A	JAG1	c.976G>T	NM_000214.3	NP_000205.1:p.(Glu326Ter)	NC_000020.10:g.10632809C>A	(Likely) pathogenic	1 lab	5dff80515c
22:24581664 SUSD2 C>G	22	24581664	24581664	C	G	SUSD2	c.1106C>G	NM_019601.4	NP_062547.1:p.(Thr369Arg)	NC_000022.10:g.24581664C>G	(Likely) benign	1 lab	5dff9139cd
19:45862164 ERCC2 G>A	19	45862164	45862164	G	A	ERCC2	c.1172C>T	NM_001130867.1	NP_001124339.1:p.(Ala391Val)	NC_000019.9:g.45862164G>A	(Likely) benign	1 lab	5e010e869a
9:73233777 TRPM3 C>T	9	73233777	73233777	C	T	TRPM3	c.1863+6G>A	NM_020952.6	NP_066003.3:p.?	NC_000009.11:g.73233777C>T	(Likely) benign	1 lab	f33180bbdb
17:80041949 FASN G>A	17	80041949	80041949	G	A	FASN	c.5000C>T	NM_004104.5	NP_004095.4:p.(Pro1667Leu)	NC_000017.10:g.80041949G>A	(Likely) benign	1 lab	5e01f8ae06
19:30936442 ZNF536 A>G	19	30936442	30936442	A	G	ZNF536	c.1973A>G	NM_014717.3	NP_055532.1:p.(Lys658Arg)	NC_000019.9:g.30936442A>G	VUS	1 lab	5e0417d240
9:33167163 B4GALT1 C>G	9	33167163	33167163	C	G	B4GALT1	c.5G>C	NM_001497.3	NP_001488.2:p.(Arg2Thr)	NC_000009.11:g.33167163C>G	(Likely) benign	1 lab	5e04ab9bae
11:66456621 SPTBN2 G>A	11	66456621	66456621	G	A	SPTBN2	c.5980C>T	NM_006946.3	NP_008877.1:p.(Arg1994Trp)	NC_000011.9:g.66456621G>A	VUS	1 lab	5e04da5c7a
21:47851796 PCNT G>A	21	47851796	47851796	G	A	PCNT	c.8418G>A	NM_006031.5	NP_006022.3:p.(Ala2806=)	NC_000021.8:g.47851796G>A	(Likely) benign	1 lab	5e0734bb9a
16:85701833 GSE1 G>A	16	85701833	85701833	G	A	GSE1	c.3218G>A	NM_014615.4	NP_055430.1:p.(Arg1073His)	NC_000016.9:g.85701833G>A	(Likely) benign	1 lab	5e085838aa
17:29677220 NF1 A>C	17	29677220	29677220	A	C	NF1	c.7278A>C	NM_000267.3	NP_000258.1:p.(Glu2426Asp)	NC_000017.10:g.29677220A>C	VUS	1 lab	5e097174c8
2:50149289 NRXN1 G>A	2	50149289	50149289	G	A	NRXN1	c.4437C>T	NM_001135659.2	NP_001129131.1:p.(Ala1479=)	NC_000002.11:g.50149289G>A	(Likely) benign	1 lab	5e097cf2f7
1:16456054 EPHA2 G>C	1	16456054	16456054	G	C	EPHA2	c.2700C>G	NM_004431.4	NP_004422.2:p.(Gly900=)	NC_000001.10:g.16456054G>C	(Likely) benign	1 lab	5e09e2e466
4:72215767 SLC4A4 T>A	4	72215767	72215767	T	A	SLC4A4	c.528T>A	NM_001098484.2	NP_001091954.1:p.(Ala176=)	NC_000004.11:g.72215767T>A	(Likely) benign	1 lab	5e09ed42bb
6:108843570 AFG1L G>A	6	108843570	108843570	G	A	AFG1L	c.1388G>A	NM_145315.4	NP_660358.2:p.(Arg463Gln)	NC_000006.11:g.108843570G>A	VUS	1 lab	5e0b49dbf4
8:145640798 SLC39A4 G>A	8	145640798	145640798	G	A	SLC39A4	c.405C>T	NM_017767.2	NP_060237.2:p.(Cys135=)	NC_000008.10:g.145640798G>A	(Likely) benign	1 lab	5e0b80d644
10:101544447 ABCC2 A>T	10	101544447	101544447	A	T	ABCC2	c.116A>T	NM_000392.5	NP_000383.2:p.(Tyr39Phe)	NC_000010.10:g.101544447A>T	(Likely) benign	1 lab	f331e73681
4:126240990 FAT4 G>A	4	126240990	126240990	G	A	FAT4	c.3424G>A	NM_001291303.1	NP_001278232.1:p.(Val1142Met)	NC_000004.11:g.126240990G>A	(Likely) benign	1 lab	5e0ea32099
13:103510688 ERCC5 C>A	13	103510688	103510688	C	A	ERCC5	c.592C>A	NM_000123.3	NP_000114.2:p.(Pro198Thr)	NC_000013.10:g.103510688C>A	(Likely) benign	1 lab	5e1085483a
18:10800469 PIEZO2 A>G	18	10800469	10800469	A	G	PIEZO2	c.1244T>C	NM_022068.4	NP_071351.2:p.(Leu415Pro)	NC_000018.9:g.10800469A>G	VUS	1 lab	f33422ecd7
16:1841286 IGFALS G>A	16	1841286	1841286	G	A	IGFALS	c.1133C>T	NM_004970.2	NP_004961.1:p.(Pro378Leu)	NC_000016.9:g.1841286G>A	VUS	1 lab	5e14b29466
9:43915533 MISSING G>T	9	43915533	43915533	G	T	MISSING				NC_000009.11:g.43915533G>T	(Likely) benign	1 lab	5e152c1303
14:68257405 ZFYVE26 A>C	14	68257405	68257405	A	C	ZFYVE26	c.2639T>G	NM_015346.3	NP_056161.2:p.(Leu880Arg)	NC_000014.8:g.68257405A>C	VUS	1 lab	5e17bdcc96
2:179634791 TTN CACAA>C	2	179634791	179634798	CACAA	C	TTN	c.8633_8636del	NM_001267550.2	NP_001254479.2:p.(Phe2878TrpfsTer10)	NC_000002.11:g.179634795_179634798del	(Likely) pathogenic	1 lab	5e17daa719
11:32449535 WT1 C>T	11	32449535	32449535	C	T	WT1				NC_000011.9:g.32449535C>T	VUS	1 lab	5e17df3251
15:62259631 VPS13C G>A	15	62259631	62259631	G	A	VPS13C	c.2927C>T	NM_001018088.2	NP_001018098.1:p.(Pro976Leu)	NC_000015.9:g.62259631G>A	VUS	1 lab	5e1927299d
11:124765360 ROBO4 C>T	11	124765360	124765360	C	T	ROBO4	c.1029G>A	NM_019055.5	NP_061928.4:p.(Pro343=)	NC_000011.9:g.124765360C>T	(Likely) benign	1 lab	5e19a64713
5:169484662 DOCK2 A>G	5	169484662	169484662	A	G	DOCK2	c.4459A>G	NM_004946.3	NP_004937.1:p.(Met1487Val)	NC_000005.9:g.169484662A>G	(Likely) benign	1 lab	5e1c59995d
12:110883356 ARPC3 C>T	12	110883356	110883356	C	T	ARPC3	c.7G>A	NM_001278556.2	NP_001265485.1:p.(Ala3Thr)	NC_000012.11:g.110883356C>T	VUS	1 lab	5e1d1b9ca0
20:47558530 ARFGEF2 A>G	20	47558530	47558530	A	G	ARFGEF2	c.276+6A>G	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47558530A>G	(Likely) benign	1 lab	5e1d290aaa
11:95523887 CEP57 G>A	11	95523887	95523887	G	A	CEP57				NC_000011.9:g.95523887G>A	(Likely) benign	1 lab	5e1d9a69e4
9:79959138 VPS13A C>T	9	79959138	79959138	C	T	VPS13A	c.7096C>T	NM_033305.2	NP_150648.2:p.(Pro2366Ser)	NC_000009.11:g.79959138C>T	VUS	1 lab	5e1dd86395
19:45873797 ERCC2 A>G	19	45873797	45873797	A	G	ERCC2	c.2T>C	NM_000400.4	NP_000391.1:p.(Met1?)	NC_000019.9:g.45873797A>G	VUS	1 lab	f337078df8
11:108175544 ATM C>G	11	108175544	108175544	C	G	ATM	c.5639C>G	NM_000051.3	NP_000042.3:p.(Thr1880Arg)	NC_000011.9:g.108175544C>G	(Likely) benign	1 lab	5e1e3e2224
9:98231135 PTCH1 G>A	9	98231135	98231135	G	A	PTCH1	c.1950C>T	NM_001083602.1	NP_001077071.1:p.(Ser650=)	NC_000009.11:g.98231135G>A	(Likely) benign	1 lab	5e1f4719fe
5:177035598 B4GALT7 G>A	5	177035598	177035598	G	A	B4GALT7	c.698G>A	NM_007255.2	NP_009186.1:p.(Arg233Gln)	NC_000005.9:g.177035598G>A	(Likely) benign	1 lab	5e1faa2230
14:23245398 SLC7A7 C>T	14	23245398	23245398	C	T	SLC7A7	c.894+6G>A	NM_001126106.2	NP_001119578.1:p.?	NC_000014.8:g.23245398C>T	(Likely) benign	1 lab	5e20e21817
5:131728257 SLC22A5 C>G	5	131728257	131728257	C	G	SLC22A5	c.1472C>G	NM_001308122.1	NP_001295051.1:p.(Ser491Cys)	NC_000005.9:g.131728257C>G	VUS	1 lab	5e20eed281
17:44060588 MAPT C>T	17	44060588	44060588	C	T	MAPT	c.418C>T	NM_001123066.3	NP_001116538.2:p.(Pro140Ser)	NC_000017.10:g.44060588C>T	VUS	1 lab	5e21de04d2
1:204950996 NFASC G>A	1	204950996	204950996	G	A	NFASC	c.2318G>A	NM_001005388.2	NP_001005388.2:p.(Arg773Gln)	NC_000001.10:g.204950996G>A	VUS	1 lab	5e21def787
X:153129871 L1CAM C>T	X	153129871	153129871	C	T	L1CAM	c.3228G>A	NM_001278116.1	NP_001265045.1:p.(Thr1076=)	NC_000023.10:g.153129871C>T	(Likely) benign	1 lab	5e234ad496
5:176710804 NSD1 C>G	5	176710804	176710804	C	G	NSD1	c.6026C>G	NM_022455.5	NP_071900.2:p.(Ala2009Gly)	NC_000005.9:g.176710804C>G	VUS	1 lab	f3388df320
7:2623271 IQCE C>G	7	2623271	2623271	C	G	IQCE	c.702C>G	NM_152558.5	NP_689771.3:p.(Ser234Arg)	NC_000007.13:g.2623271C>G	VUS	1 lab	5e2446bd6d
16:2105485 TSC2 CTGTTACCTCGA>C	16	2105485	2105496	CTGTTACCTCGA	C	TSC2	c.565_575del	NM_000548.5	NP_000539.2:p.(Cys189ArgfsTer42)	NC_000016.9:g.2105486_2105496del	(Likely) pathogenic	1 lab	5e245e6fa2
11:118344185 KMT2A A>AC	11	118344185	118344192	A	AC	KMT2A	c.2318dup	NM_001197104.2	NP_001184033.1:p.(Ser774ValfsTer12)	NC_000011.9:g.118344192dup	(Likely) pathogenic	1 lab	f3394e0809
14:105418323 AHNAK2 A>G	14	105418323	105418323	A	G	AHNAK2	c.3465T>C	NM_138420.3	NP_612429.2:p.(Asp1155=)	NC_000014.8:g.105418323A>G	(Likely) benign	1 lab	5e27edd7ce
10:117001492 ATRNL1 C>T	10	117001492	117001492	C	T	ATRNL1	c.1665C>T	NM_207303.4	NP_997186.1:p.(Ala555=)	NC_000010.10:g.117001492C>T	(Likely) benign	1 lab	5e292aa6c6
X:72434145 NAP1L2 C>T	X	72434145	72434145	C	T	NAP1L2	c.184G>A	NM_021963.3	NP_068798.1:p.(Gly62Ser)	NC_000023.10:g.72434145C>T	(Likely) benign	1 lab	5e2c519555
1:147380133 GJA8 C>T	1	147380133	147380133	C	T	GJA8	c.51C>T	NM_005267.4	NP_005258.2:p.(His17=)	NC_000001.10:g.147380133C>T	(Likely) benign	1 lab	5e2d336347
1:222753113 TAF1A C>A	1	222753113	222753113	C	A	TAF1A	c.393G>T	NM_001201536.1	NP_001188465.1:p.(Met131Ile)	NC_000001.10:g.222753113C>A	(Likely) benign	1 lab	5e2f2d3592
13:111143696 COL4A2 T>C	13	111143696	111143696	T	C	COL4A2	c.3454+9T>C	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111143696T>C	(Likely) benign	1 lab	5e30175ad9
16:2115628 TSC2 A>G	16	2115628	2115628	A	G	TSC2	c.1708A>G	NM_000548.3	NP_000539.2:p.(Ile570Val)	NC_000016.9:g.2115628A>G	(Likely) benign	1 lab	5e303b8e8a
20:31024698 ASXL1 C>G	20	31024698	31024698	C	G	ASXL1	c.4183C>G	NM_015338.5	NP_056153.2:p.(Leu1395Val)	NC_000020.10:g.31024698C>G	(Likely) benign	1 lab	5e31d0507f
10:112544109 RBM20 C>T	10	112544109	112544109	C	T	RBM20	c.1348C>T	NM_001134363.1	NP_001127835.1:p.(Arg450Trp)	NC_000010.10:g.112544109C>T	VUS	1 lab	5e31ed7fac
4:56851517 CEP135 A>G	4	56851517	56851517	A	G	CEP135	c.1850A>G	NM_025009.4	NP_079285.2:p.(Asn617Ser)	NC_000004.11:g.56851517A>G	(Likely) benign	1 lab	5e33fe6659
14:23885507 MYH7 G>A	14	23885507	23885507	G	A	MYH7	c.4659C>T	NM_000257.2	NP_000248.2:p.(His1553=)	NC_000014.8:g.23885507G>A	(Likely) benign	1 lab	5e355d42e9
11:61544319 MYRF C>T	11	61544319	61544319	C	T	MYRF	c.1560C>T	NM_001127392.2	NP_001120864.1:p.(Ala520=)	NC_000011.9:g.61544319C>T	(Likely) benign	1 lab	5e35f27b23
7:45010554 MYO1G T>C	7	45010554	45010554	T	C	MYO1G	c.951A>G	NM_033054.3	NP_149043.2:p.(Thr317=)	NC_000007.13:g.45010554T>C	(Likely) benign	1 lab	5e3715588c
2:70900444 ADD2 G>A	2	70900444	70900444	G	A	ADD2	c.1756C>T	NM_017488.3	NP_059522.1:p.(Arg586Ter)	NC_000002.11:g.70900444G>A	VUS	1 lab	5e3c4b673f
13:100764113 PCCA G>A	13	100764113	100764113	G	A	PCCA	c.202G>A	NM_000282.3	NP_000273.2:p.(Val68Ile)	NC_000013.10:g.100764113G>A	(Likely) benign	1 lab	5e3dc71542
16:87678005 JPH3 C>T	16	87678005	87678005	C	T	JPH3	c.524C>T	NM_020655.3	NP_065706.2:p.(Thr175Met)	NC_000016.9:g.87678005C>T	VUS	1 lab	5e3e61d292
19:1646388 TCF3 G>A	19	1646388	1646388	G	A	TCF3	c.111C>T	NM_003200.5	NP_003191.1:p.(Pro37=)	NC_000019.9:g.1646388G>A	(Likely) benign	1 lab	5e3e8db6b1
1:155005617 DCST2 AG>A	1	155005617	155005620	AG	A	DCST2	c.391del	NM_144622.3	NP_653223.2:p.(Leu131Ter)	NC_000001.10:g.155005620del	VUS	1 lab	5e3ee7cf1d
5:1209018 SLC6A19 AGTTCCACCCGGGCCCAGGGGTCGCCTCTGCTGGGAAGCC>A	5	1209018	1209076	AGTTCCACCCGGGCCCAGGGGTCGCCTCTGCTGGGAAGCC	A	SLC6A19	c.343+37_343+75del	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1209038_1209076del	(Likely) benign	1 lab	f33982dc9c
5:149677736 ARSI G>A	5	149677736	149677736	G	A	ARSI	c.751C>T	NM_001012301.3	NP_001012301.1:p.(Arg251Cys)	NC_000005.9:g.149677736G>A	VUS	1 lab	5e41ab8523
11:1016332 MUC6 G>A	11	1016332	1016332	G	A	MUC6	c.6469C>T	NM_005961.2	NP_005952.2:p.(Pro2157Ser)	NC_000011.9:g.1016332G>A	(Likely) benign	1 lab	5e43c85e1f
5:140262683 PCDHA13 T>C	5	140262683	140262683	T	C	PCDHA13	c.830T>C	NM_018904.3	NP_061727.1:p.(Ile277Thr)	NC_000005.9:g.140262683T>C	VUS	1 lab	5e441df592
22:36653377 APOL1 C>T	22	36653377	36653377	C	T	APOL1	c.159C>T	NM_145343.2	NP_663318.1:p.(Asn53=)	NC_000022.10:g.36653377C>T	(Likely) benign	1 lab	5e44359174
X:7811584 VCX C>T	X	7811584	7811584	C	T	VCX	c.148C>T	NM_013452.2	NP_038480.2:p.(Arg50Cys)	NC_000023.10:g.7811584C>T	(Likely) benign	1 lab	5e459aa642
14:102904455 TECPR2 G>T	14	102904455	102904455	G	T	TECPR2	c.2491G>T	NM_014844.4	NP_055659.2:p.(Gly831Cys)	NC_000014.8:g.102904455G>T	VUS	1 lab	5e46e134a7
2:197755620 PGAP1 A>G	2	197755620	197755620	A	G	PGAP1	c.583T>C	NM_001321099.1	NP_001308028.1:p.(Tyr195His)	NC_000002.11:g.197755620A>G	VUS	1 lab	5e4729b9a2
1:235904811 LYST C>T	1	235904811	235904811	C	T	LYST	c.8269G>A	NM_001301365.1	NP_001288294.1:p.(Ala2757Thr)	NC_000001.10:g.235904811C>T	(Likely) benign	1 lab	5e47c10f91
11:76912619 MYO7A G>A	11	76912619	76912619	G	A	MYO7A	c.4979G>A	NM_000260.3	NP_000251.3:p.(Gly1660Glu)	NC_000011.9:g.76912619G>A	VUS	1 lab	5e4939ad36
2:173352453 ITGA6 T>C	2	173352453	173352453	T	C	ITGA6	c.2245-3T>C	NM_000210.3	NP_000201.2:p.?	NC_000002.11:g.173352453T>C	(Likely) benign	1 lab	5e4b04de89
9:2648349 VLDLR T>A	9	2648349	2648349	T	A	VLDLR	c.1962+2T>A	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2648349T>A	(Likely) pathogenic	1 lab	5e4dbe80a4
8:48887487 MCM4 G>A	8	48887487	48887487	G	A	MCM4	c.2330G>A	NM_005914.4	NP_005905.2:p.(Arg777Gln)	NC_000008.10:g.48887487G>A	(Likely) benign	1 lab	5e4ffdbe92
18:67871437 RTTN C>A	18	67871437	67871437	C	A	RTTN	c.282G>T	NM_173630.3	NP_775901.3:p.(Arg94=)	NC_000018.9:g.67871437C>A	(Likely) benign	1 lab	5e503f2eca
1:52840509 ORC1 T>A	1	52840509	52840509	T	A	ORC1	c.2364A>T	NM_004153.3	NP_004144.2:p.(Ser788=)	NC_000001.10:g.52840509T>A	(Likely) benign	1 lab	5e52b4d82d
10:95380639 PDE6C C>T	10	95380639	95380639	C	T	PDE6C	c.634-9C>T	NM_006204.3	NP_006195.3:p.?	NC_000010.10:g.95380639C>T	(Likely) benign	1 lab	5e53303214
11:61914163 INCENP CAGA>C	11	61914163	61914174	CAGA	C	INCENP	c.2002_2004del	NM_001040694.2	NP_001035784.1:p.(Lys668del)	NC_000011.9:g.61914172_61914174del	(Likely) benign	1 lab	5e53736cc1
11:103070040 DYNC2H1 T>A	11	103070040	103070040	T	A	DYNC2H1	c.7923T>A	NM_001080463.1	NP_001073932.1:p.(Asp2641Glu)	NC_000011.9:g.103070040T>A	VUS	1 lab	5e5413385a
6:56485113 DST T>C	6	56485113	56485113	T	C	DST	c.3719A>G	NM_001723.5	NP_001714.1:p.(Asn1240Ser)	NC_000006.11:g.56485113T>C	(Likely) benign	1 lab	5e548e89eb
3:181430628 SOX2 C>G	3	181430628	181430628	C	G	SOX2	c.480C>G	NM_003106.4	NP_003097.1:p.(Tyr160Ter)	NC_000003.11:g.181430628C>G	(Likely) pathogenic	1 lab	f33ba403de
17:40371344 STAT5B G>A	17	40371344	40371344	G	A	STAT5B	c.819C>T	NM_012448.3	NP_036580.2:p.(Asp273=)	NC_000017.10:g.40371344G>A	(Likely) benign	1 lab	5e54bb7463
6:109787446 ZBTB24 C>T	6	109787446	109787446	C	T	ZBTB24	c.1702G>A	NM_014797.2	NP_055612.2:p.(Gly568Ser)	NC_000006.11:g.109787446C>T	VUS	1 lab	5e55fb9793
X:41203596 DDX3X T>C	X	41203596	41203596	T	C	DDX3X	c.969T>C	NM_001356.4	NP_001347.3:p.(Thr323=)	NC_000023.10:g.41203596T>C	(Likely) benign	1 lab	5e56d75837
11:88068256 CTSC G>A	11	88068256	88068256	G	A	CTSC	c.173-6C>T	NM_148170.4	NP_680475.1:p.?	NC_000011.9:g.88068256G>A	(Likely) benign	1 lab	5e57226004
1:10339209 KIF1B CAT>C	1	10339209	10339213	CAT	C	KIF1B	c.1162+1026_1162+1027del	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10339212_10339213del	(Likely) benign	1 lab	f33cbc7747
21:44273691 WDR4 G>A	21	44273691	44273691	G	A	WDR4	c.963C>T	NM_033661.4	NP_387510.1:p.(Gly321=)	NC_000021.8:g.44273691G>A	(Likely) benign	1 lab	5e58106b61
16:2106794 TSC2 G>T	16	2106794	2106794	G	T	TSC2	c.774+24G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106794G>T	(Likely) benign	1 lab	5e585e44b0
17:1564361 PRPF8 C>G	17	1564361	1564361	C	G	PRPF8	c.4434G>C	NM_006445.3	NP_006436.3:p.(Leu1478=)	NC_000017.10:g.1564361C>G	(Likely) benign	1 lab	5e58fddf74
19:3006527 TLE2 G>A	19	3006527	3006527	G	A	TLE2	c.1391C>T	NM_003260.5	NP_003251.2:p.(Thr464Ile)	NC_000019.9:g.3006527G>A	VUS	1 lab	5e59153a96
8:140715050 KCNK9 C>T	8	140715050	140715050	C	T	KCNK9	c.186G>A	NM_001282534.1	NP_001269463.1:p.(Leu62=)	NC_000008.10:g.140715050C>T	(Likely) benign	1 lab	5e59691eed
20:52786195 CYP24A1 C>G	20	52786195	52786195	C	G	CYP24A1	c.576G>C	NM_000782.4	NP_000773.2:p.(Glu192Asp)	NC_000020.10:g.52786195C>G	(Likely) benign	1 lab	5e5afc1bfd
20:422644 TBC1D20 A>T	20	422644	422644	A	T	TBC1D20	c.381T>A	NM_144628.3	NP_653229.1:p.(Ile127=)	NC_000020.10:g.422644A>T	(Likely) benign	1 lab	5e5b8e3a11
X:52677362 SSX7 G>T	X	52677362	52677362	G	T	SSX7	c.415C>A	NM_173358.2	NP_775494.1:p.(Leu139Met)	NC_000023.10:g.52677362G>T	(Likely) benign	1 lab	5e5bb3cc0d
2:48032753 MSH6 T>A	2	48032753	48032753	T	A	MSH6	c.3557-4T>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032753T>A	(Likely) benign	1 lab	5e5cbe906f
12:9083022 PHC1 A>G	12	9083022	9083022	A	G	PHC1	c.613-9A>G	NM_004426.2	NP_004417.2:p.?	NC_000012.11:g.9083022A>G	(Likely) benign	1 lab	5e5d864244
X:70443722 GJB1 A>G	X	70443722	70443722	A	G	GJB1	c.165A>G	NM_000166.5	NP_000157.1:p.(Thr55=)	NC_000023.10:g.70443722A>G	(Likely) benign	1 lab	5e5d8a139b
6:133595850 EYA4 T>G	6	133595850	133595850	T	G	EYA4	c.-65-4T>G	NM_004100.4	NP_004091.3:p.?	NC_000006.11:g.133595850T>G	(Likely) benign	1 lab	5e5e419efc
2:170115713 LRP2 C>T	2	170115713	170115713	C	T	LRP2	c.2335G>A	NM_004525.3	NP_004516.2:p.(Ala779Thr)	NC_000002.11:g.170115713C>T	(Likely) benign	1 lab	5e6144e7e0
1:17566219 PADI1 A>G	1	17566219	17566219	A	G	PADI1	c.1573A>G	NM_013358.3	NP_037490.2:p.(Arg525Gly)	NC_000001.10:g.17566219A>G	(Likely) benign	1 lab	5e61b0a56d
3:123366144 MYLK G>A	3	123366144	123366144	G	A	MYLK	c.4546C>T	NM_053025.3	NP_444253.3:p.(Leu1516Phe)	NC_000003.11:g.123366144G>A	VUS	1 lab	5e61d2858b
5:98109705 RGMB C>G	5	98109705	98109705	C	G	RGMB	c.54C>G	NM_001012761.2	NP_001012779.2:p.(His18Gln)	NC_000005.9:g.98109705C>G	(Likely) benign	1 lab	5e630e05d4
14:64656878 SYNE2 A>G	14	64656878	64656878	A	G	SYNE2	c.17961A>G	NM_182914.2	NP_878918.2:p.(Ser5987=)	NC_000014.8:g.64656878A>G	(Likely) benign	1 lab	5e637800a1
2:179647613 TTN G>A	2	179647613	179647613	G	A	TTN	c.3020C>T	NM_001267550.2	NP_001254479.2:p.(Ala1007Val)	NC_000002.11:g.179647613G>A	VUS	1 lab	f34183e902
17:73570750 LLGL2 G>A	17	73570750	73570750	G	A	LLGL2	c.3055+1G>A	NM_001031803.1	NP_001026973.1:p.?	NC_000017.10:g.73570750G>A	VUS	1 lab	5e63b9a5b2
14:31617968 HECTD1 C>A	14	31617968	31617968	C	A	HECTD1	c.2455G>T	NM_015382.4	NP_056197.3:p.(Gly819Cys)	NC_000014.8:g.31617968C>A	VUS	1 lab	5e6456279b
9:139405199 NOTCH1 T>A	9	139405199	139405199	T	A	NOTCH1	c.2646A>T	NM_017617.5	NP_060087.3:p.(Ala882=)	NC_000009.11:g.139405199T>A	(Likely) benign	1 lab	5e66b1f2ea
17:6331683 AIPL1 C>T	17	6331683	6331683	C	T	AIPL1	c.420G>A	NM_014336.4	NP_055151.3:p.(Leu140=)	NC_000017.10:g.6331683C>T	(Likely) benign	1 lab	5e6710ed9c
6:42072981 C6orf132 T>C	6	42072981	42072981	T	C	C6orf132	c.2669A>G	NM_001164446.3	NP_001157918.1:p.(Asn890Ser)	NC_000006.11:g.42072981T>C	(Likely) benign	1 lab	5e69e99c9a
1:39818786 MACF1 A>C	1	39818786	39818786	A	C	MACF1	c.5121A>C	NM_012090.5	NP_036222.3:p.(Pro1707=)	NC_000001.10:g.39818786A>C	(Likely) benign	1 lab	5e6b2226be
11:17418761 ABCC8 C>T	11	17418761	17418761	C	T	ABCC8	c.3970G>A	NM_001287174.1	NP_001274103.1:p.(Glu1324Lys)	NC_000011.9:g.17418761C>T	(Likely) benign	1 lab	5e6cd1378a
11:4107784 STIM1 G>A	11	4107784	4107784	G	A	STIM1	c.1552G>A	NM_001277961.1	NP_001264890.1:p.(Gly518Ser)	NC_000011.9:g.4107784G>A	VUS	1 lab	5e6ce67b6c
3:9786753 BRPF1 C>G	3	9786753	9786753	C	G	BRPF1	c.2982C>G	NM_001003694.1	NP_001003694.1:p.(Tyr994Ter)	NC_000003.11:g.9786753C>G	(Likely) pathogenic	1 lab	5e6d987427
2:179612306 TTN C>A	2	179612306	179612306	C	A	TTN	c.14821G>T	NM_133379.4	NP_596870.2:p.(Glu4941Ter)	NC_000002.11:g.179612306C>A	VUS	1 lab	5e6dbf6db8
12:111885466 SH2B3 C>T	12	111885466	111885466	C	T	SH2B3	c.1243C>T	NM_005475.3	NP_005466.1:p.(Arg415Cys)	NC_000012.11:g.111885466C>T	VUS	1 lab	f34262c90a
7:73803458 CLIP2 C>A	7	73803458	73803458	C	A	CLIP2	c.2589C>A	NM_003388.4	NP_003379.3:p.(Gly863=)	NC_000007.13:g.73803458C>A	(Likely) benign	1 lab	5e6f44009a
19:7622148 PNPLA6 C>T	19	7622148	7622148	C	T	PNPLA6	c.3405C>T	NM_001166111.1	NP_001159583.1:p.(Gly1135=)	NC_000019.9:g.7622148C>T	(Likely) benign	1 lab	5e72336339
X:153735785 FAM3A T>C	X	153735785	153735785	T	C	FAM3A	c.464A>G	NM_001282311.1	NP_001269240.1:p.(His155Arg)	NC_000023.10:g.153735785T>C	(Likely) benign	1 lab	5e73919de9
19:38610100 SIPA1L3 A>G	19	38610100	38610100	A	G	SIPA1L3	c.2446A>G	NM_015073.2	NP_055888.1:p.(Met816Val)	NC_000019.9:g.38610100A>G	VUS	1 lab	5e74d213a8
18:19321774 MIB1 G>T	18	19321774	19321774	G	T	MIB1	c.229+1G>T	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19321774G>T	(Likely) pathogenic	1 lab	5e761195ab
16:50825567 CYLD G>A	16	50825567	50825567	G	A	CYLD	c.2207G>A	NM_015247.2	NP_056062.1:p.(Trp736Ter)	NC_000016.9:g.50825567G>A	(Likely) pathogenic	1 lab	5e77f307ca
3:100963081 IMPG2 C>T	3	100963081	100963081	C	T	IMPG2	c.2094G>A	NM_016247.3	NP_057331.2:p.(Ala698=)	NC_000003.11:g.100963081C>T	(Likely) benign	1 lab	5e7811f995
7:5568956 ACTB G>A	7	5568956	5568956	G	A	ACTB	c.199C>T	NM_001101.3	NP_001092.1:p.(Leu67=)	NC_000007.13:g.5568956G>A	(Likely) benign	1 lab	5e78458adb
X:153588193 FLNA G>A	X	153588193	153588193	G	A	FLNA	c.3886C>T	NM_001110556.2	NP_001104026.1:p.(Arg1296Cys)	NC_000023.10:g.153588193G>A	(Likely) benign	1 lab	5e78463a9e
X:75648813 MAGEE1 C>G	X	75648813	75648813	C	G	MAGEE1	c.490C>G	NM_020932.2	NP_065983.1:p.(Leu164Val)	NC_000023.10:g.75648813C>G	(Likely) benign	1 lab	5e7a01c38f
12:133196318 P2RX2 C>G	12	133196318	133196318	C	G	P2RX2	c.363C>G	NM_001282165.1	NP_001269094.1:p.(Thr121=)	NC_000012.11:g.133196318C>G	(Likely) benign	1 lab	5e7acd4a93
X:15603635 ACE2 T>G	X	15603635	15603635	T	G	ACE2	c.863A>C	NM_021804.2	NP_068576.1:p.(Lys288Thr)	NC_000023.10:g.15603635T>G	VUS	1 lab	5e7ad80e74
3:180334063 CCDC39 G>A	3	180334063	180334063	G	A	CCDC39	c.2669+6C>T	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180334063G>A	(Likely) benign	1 lab	5e7b97d158
16:46708351 VPS35 C>T	16	46708351	46708351	C	T	VPS35	c.1035G>A	NM_018206.5	NP_060676.2:p.(Glu345=)	NC_000016.9:g.46708351C>T	(Likely) benign	1 lab	5e7bedbcfb
14:104573549 ASPG G>A	14	104573549	104573549	G	A	ASPG	c.1300G>A	NM_001080464.3	NP_001073933.2:p.(Gly434Ser)	NC_000014.8:g.104573549G>A	VUS	1 lab	5e7d3b0c47
3:75786712 ZNF717 G>A	3	75786712	75786712	G	A	ZNF717	c.2062C>T	NM_001128223.3	NP_001121695.1:p.(His688Tyr)	NC_000003.11:g.75786712G>A	VUS	1 lab	5e7d454740
11:65988684 PACS1 G>T	11	65988684	65988684	G	T	PACS1	c.1259G>T	NM_018026.3	NP_060496.2:p.(Ser420Ile)	NC_000011.9:g.65988684G>T	VUS	1 lab	5e7f0712e4
17:15942801 NCOR1 C>A	17	15942801	15942801	C	A	NCOR1	c.6901G>T	NM_006311.3	NP_006302.2:p.(Val2301Phe)	NC_000017.10:g.15942801C>A	(Likely) benign	1 lab	5e81494f66
1:152573253 LCE3C T>G	1	152573253	152573253	T	G	LCE3C	c.46T>G	NM_178434.2	NP_848521.1:p.(Cys16Gly)	NC_000001.10:g.152573253T>G	(Likely) benign	1 lab	5e81a6ae21
11:108143535 ATM C>A	11	108143535	108143535	C	A	ATM	c.3240C>A	NM_000051.3	NP_000042.3:p.(Asp1080Glu)	NC_000011.9:g.108143535C>A	VUS	1 lab	5e824af797
8:55541190 RP1 T>A	8	55541190	55541190	T	A	RP1	c.4748T>A	NM_006269.1	NP_006260.1:p.(Ile1583Asn)	NC_000008.10:g.55541190T>A	VUS	1 lab	5e82634f2c
1:214568242 PTPN14 C>T	1	214568242	214568242	C	T	PTPN14	c.846G>A	NM_005401.4	NP_005392.2:p.(Thr282=)	NC_000001.10:g.214568242C>T	(Likely) benign	1 lab	5e841bf52b
22:19711776 GP1BB T>C	22	19711776	19711776	T	C	GP1BB	c.410T>C	NM_000407.4	NP_000398.1:p.(Leu137Pro)	NC_000022.10:g.19711776T>C	(Likely) pathogenic	1 lab	5e84a53d2d
7:48312670 ABCA13 G>A	7	48312670	48312670	G	A	ABCA13	c.3407G>A	NM_152701.4	NP_689914.3:p.(Ser1136Asn)	NC_000007.13:g.48312670G>A	VUS	1 lab	5e84b31d89
8:144991392 PLEC G>A	8	144991392	144991392	G	A	PLEC	c.13008C>T	NM_201380.3	NP_958782.1:p.(Ser4336=)	NC_000008.10:g.144991392G>A	(Likely) benign	1 lab	5e867ab2f7
X:153792576 IKBKG G>GC	X	153792576	153792583	G	GC	IKBKG	c.1167dup	NM_001099857.2	NP_001093327.1:p.(Glu390ArgfsTer5)	NC_000023.10:g.153792583dup	(Likely) pathogenic	1 lab	5e869ad6b9
14:102906953 TECPR2 G>A	14	102906953	102906953	G	A	TECPR2	c.2752+7G>A	NM_014844.4	NP_055659.2:p.?	NC_000014.8:g.102906953G>A	(Likely) benign	1 lab	5e8742e192
9:139264823 CARD9 G>A	9	139264823	139264823	G	A	CARD9	c.874C>T	NM_052813.4	NP_434700.2:p.(Arg292Trp)	NC_000009.11:g.139264823G>A	VUS	1 lab	5e88a2038f
X:118985796 UPF3B T>C	X	118985796	118985796	T	C	UPF3B	c.197A>G	NM_080632.2	NP_542199.1:p.(Gln66Arg)	NC_000023.10:g.118985796T>C	(Likely) benign	1 lab	5e8ac7db5b
6:32549475 HLA-DRB1 T>C	6	32549475	32549475	T	C	HLA-DRB1	c.511A>G	NM_002124.4	NP_002115.2:p.(Met171Val)	NC_000006.11:g.32549475T>C	(Likely) benign	1 lab	f343180076
5:36958269 NIPBL C>T	5	36958269	36958269	C	T	NIPBL	c.294C>T	NM_015384.4	NP_056199.2:p.(Ala98=)	NC_000005.9:g.36958269C>T	(Likely) benign	1 lab	5e8fc4b4d6
10:97366662 ALDH18A1 G>A	10	97366662	97366662	G	A	ALDH18A1	c.2245C>T	NM_001323413.1	NP_001310342.1:p.(Arg749Trp)	NC_000010.10:g.97366662G>A	VUS	1 lab	5e90a29e20
1:20972108 PINK1 G>A	1	20972108	20972108	G	A	PINK1	c.1015G>A	NM_032409.2	NP_115785.1:p.(Ala339Thr)	NC_000001.10:g.20972108G>A	VUS	1 lab	5e90ff2b71
16:20975614 DNAH3 G>A	16	20975614	20975614	G	A	DNAH3	c.9592C>T	NM_017539.2	NP_060009.1:p.(Pro3198Ser)	NC_000016.9:g.20975614G>A	VUS	1 lab	5e915a7298
7:47925458 PKD1L1 C>T	7	47925458	47925458	C	T	PKD1L1	c.3031G>A	NM_138295.4	NP_612152.1:p.(Glu1011Lys)	NC_000007.13:g.47925458C>T	(Likely) benign	1 lab	5e91cf49a7
X:106846535 FRMPD3 C>G	X	106846535	106846535	C	G	FRMPD3	c.5365C>G	NM_032428.2	NP_115804.1:p.(Pro1789Ala)	NC_000023.10:g.106846535C>G	(Likely) benign	1 lab	5e93cd6f8d
16:81712089 CMIP C>T	16	81712089	81712089	C	T	CMIP	c.1244C>T	NM_198390.2	NP_938204.2:p.(Ala415Val)	NC_000016.9:g.81712089C>T	(Likely) benign	1 lab	5e9491a381
19:39759334 IFNL2 A>G	19	39759334	39759334	A	G	IFNL2	c.28A>G	NM_172138.1	NP_742150.1:p.(Thr10Ala)	NC_000019.9:g.39759334A>G	(Likely) benign	1 lab	5e95361f76
9:137715309 COL5A1 C>A	9	137715309	137715309	C	A	COL5A1	c.4692C>A	NM_000093.4	NP_000084.3:p.(Gly1564=)	NC_000009.11:g.137715309C>A	(Likely) benign	1 lab	5e97b9d3f6
1:113643041 LRIG2 G>T	1	113643041	113643041	G	T	LRIG2	c.936-1G>T	NM_001312686.1	NP_001299615.1:p.?	NC_000001.10:g.113643041G>T	(Likely) pathogenic	1 lab	5e98e03975
19:39401701 CCER2 G>A	19	39401701	39401701	G	A	CCER2	c.213C>T	NM_001243212.1	NP_001230141.1:p.(His71=)	NC_000019.9:g.39401701G>A	(Likely) benign	1 lab	5e99c20ddb
2:179437730 TTN C>T	2	179437730	179437730	C	T	TTN	c.73129G>A	NM_001267550.1	NP_001254479.1:p.(Ala24377Thr)	NC_000002.11:g.179437730C>T	VUS	1 lab	5e9beb260a
3:197430492 RUBCN G>A	3	197430492	197430492	G	A	RUBCN	c.317C>T	NM_001145642.4	NP_001139114.1:p.(Thr106Met)	NC_000003.11:g.197430492G>A	VUS	1 lab	5e9c570c8e
16:18805924 ARL6IP1 T>G	16	18805924	18805924	T	G	ARL6IP1	c.490A>C	NM_015161.2	NP_055976.1:p.(Ile164Leu)	NC_000016.9:g.18805924T>G	VUS	1 lab	5e9d8a01e0
16:50813983 CYLD AT>A	16	50813983	50813990	AT	A	CYLD	c.1518+35del	NM_001378743.1	NP_001365672.1:p.?	NC_000016.9:g.50813990del	(Likely) benign	1 lab	5e9e9de0f3
12:124819672 NCOR2 C>T	12	124819672	124819672	C	T	NCOR2	c.6411+9G>A	NM_006312.5	NP_006303.4:p.?	NC_000012.11:g.124819672C>T	(Likely) benign	1 lab	5ea20b4fb5
1:183101604 LAMC1 C>T	1	183101604	183101604	C	T	LAMC1	c.3636C>T	NM_002293.3	NP_002284.3:p.(Tyr1212=)	NC_000001.10:g.183101604C>T	(Likely) benign	1 lab	5ea3977faa
6:32166200 NOTCH4 G>A	6	32166200	32166200	G	A	NOTCH4	c.4754C>T	NM_004557.3	NP_004548.3:p.(Pro1585Leu)	NC_000006.11:g.32166200G>A	VUS	1 lab	5ea419ae3e
X:129339296 ZNF280C A>G	X	129339296	129339296	A	G	ZNF280C	c.2136T>C	NM_017666.4	NP_060136.1:p.(His712=)	NC_000023.10:g.129339296A>G	(Likely) benign	1 lab	5ea489012e
17:39254005 KRTAP4-8 T>C	17	39254005	39254005	T	C	KRTAP4-8	c.332A>G	NM_031960.2	NP_114166.1:p.(Lys111Arg)	NC_000017.10:g.39254005T>C	(Likely) benign	1 lab	5ea557337f
17:29422345 NF1 G>GGT	17	29422345	29422348	G	GGT	NF1	c.20_21dup	NM_000267.3	NP_000258.1:p.(Glu8TrpfsTer17)	NC_000017.10:g.29422347_29422348dup	(Likely) pathogenic	1 lab	5ea60401df
5:82875878 VCAN G>C	5	82875878	82875878	G	C	VCAN	c.9960G>C	NM_004385.4	NP_004376.2:p.(Leu3320=)	NC_000005.9:g.82875878G>C	(Likely) benign	1 lab	5ea6a91990
15:43693986 TUBGCP4 C>A	15	43693986	43693986	C	A	TUBGCP4	c.1672C>A	NM_001286414.2	NP_001273343.1:p.(Arg558=)	NC_000015.9:g.43693986C>A	(Likely) benign	1 lab	5ea7c74750
5:178416125 GRM6 T>C	5	178416125	178416125	T	C	GRM6	c.1165A>G	NM_000843.4	NP_000834.2:p.(Ile389Val)	NC_000005.9:g.178416125T>C	VUS	1 lab	5ea8ec077a
8:6303024 MCPH1 C>T	8	6303024	6303024	C	T	MCPH1	c.1781C>T	NM_024596.4	NP_078872.2:p.(Thr594Met)	NC_000008.10:g.6303024C>T	(Likely) benign	1 lab	5ea95eb57b
X:23724828 ACOT9 G>A	X	23724828	23724828	G	A	ACOT9	c.552C>T	NM_001330259.1	NP_001317188.1:p.(Ser184=)	NC_000023.10:g.23724828G>A	(Likely) benign	1 lab	5eaafca1af
10:26986746 PDSS1 G>A	10	26986746	26986746	G	A	PDSS1	c.106G>A	NM_014317.4	NP_055132.2:p.(Ala36Thr)	NC_000010.10:g.26986746G>A	(Likely) benign	1 lab	5eabaddc39
5:72313055 FCHO2 TA>T	5	72313055	72313058	TA	T	FCHO2	c.719del	NM_138782.3	NP_620137.2:p.(Asn240IlefsTer11)	NC_000005.9:g.72313058del	VUS	1 lab	5ead0cb591
8:11418856 BLK C>T	8	11418856	11418856	C	T	BLK	c.1075C>T	NM_001715.3	NP_001706.2:p.(Arg359Cys)	NC_000008.10:g.11418856C>T	(Likely) benign	1 lab	f349cc0ac8
15:91422918 FURIN G>A	15	91422918	91422918	G	A	FURIN	c.1172G>A	NM_001289824.1	NP_001276753.1:p.(Arg391Gln)	NC_000015.9:g.91422918G>A	VUS	1 lab	5eb025147d
15:55759345 DNAAF4 C>T	15	55759345	55759345	C	T	DNAAF4	c.420G>A	NM_130810.3	NP_570722.2:p.(Glu140=)	NC_000015.9:g.55759345C>T	(Likely) benign	1 lab	5eb07bb271
1:20669864 VWA5B1 G>A	1	20669864	20669864	G	A	VWA5B1	c.2604G>A	NM_001039500.3	NP_001034589.2:p.(Glu868=)	NC_000001.10:g.20669864G>A	(Likely) benign	1 lab	5eb0c7936d
1:46659986 POMGNT1 C>T	1	46659986	46659986	C	T	POMGNT1	c.839G>A	NM_001243766.1	NP_001230695.1:p.(Ser280Asn)	NC_000001.10:g.46659986C>T	VUS	1 lab	5eb101ca85
6:56485441 DST G>C	6	56485441	56485441	G	C	DST	c.3391C>G	NM_001723.5	NP_001714.1:p.(Leu1131Val)	NC_000006.11:g.56485441G>C	(Likely) benign	1 lab	5eb1cdb59f
3:9965642 IL17RC G>A	3	9965642	9965642	G	A	IL17RC	c.913G>A	NM_153461.3	NP_703191.1:p.(Gly305Ser)	NC_000003.11:g.9965642G>A	(Likely) benign	1 lab	5eb21c2b3f
15:90213451 PLIN1 T>C	15	90213451	90213451	T	C	PLIN1	c.358A>G	NM_002666.4	NP_002657.3:p.(Ile120Val)	NC_000015.9:g.90213451T>C	VUS	1 lab	5eb35ca2af
X:50351038 SHROOM4 T>G	X	50351038	50351038	T	G	SHROOM4	c.3104A>C	NM_020717.3	NP_065768.2:p.(Glu1035Ala)	NC_000023.10:g.50351038T>G	(Likely) benign	1 lab	5eb4c5f1aa
19:7032685 MBD3L5 G>A	19	7032685	7032685	G	A	MBD3L5	c.407G>A	NM_001136507.1	NP_001129979.1:p.(Arg136His)	NC_000019.9:g.7032685G>A	(Likely) benign	1 lab	5eb53d2f6c
19:6495595 TUBB4A C>T	19	6495595	6495595	C	T	TUBB4A	c.915G>A	NM_006087.4	NP_006078.2:p.(Pro305=)	NC_000019.9:g.6495595C>T	(Likely) benign	1 lab	5eb55629db
20:48098643 KCNB1 G>A	20	48098643	48098643	G	A	KCNB1	c.375C>T	NM_004975.3	NP_004966.1:p.(Asp125=)	NC_000020.10:g.48098643G>A	(Likely) benign	1 lab	5eb577714c
6:38781883 DNAH8 T>C	6	38781883	38781883	T	C	DNAH8	c.3311T>C	NM_001206927.1	NP_001193856.1:p.(Val1104Ala)	NC_000006.11:g.38781883T>C	VUS	1 lab	5eb89aa83d
3:3188202 TRNT1 A>G	3	3188202	3188202	A	G	TRNT1	c.697A>G	NM_001302946.2	NP_001289875.2:p.(Ile233Val)	NC_000003.11:g.3188202A>G	VUS	1 lab	5ebac81b0a
17:32954052 TMEM132E C>G	17	32954052	32954052	C	G	TMEM132E	c.974C>G	NM_001304438.1	NP_001291367.1:p.(Pro325Arg)	NC_000017.10:g.32954052C>G	(Likely) benign	1 lab	5ebb1019d1
4:25665817 SLC34A2 C>A	4	25665817	25665817	C	A	SLC34A2	c.248-7C>A	NM_001177999.1	NP_001171470.1:p.?	NC_000004.11:g.25665817C>A	VUS	1 lab	5ebb4890df
5:82815520 VCAN C>T	5	82815520	82815520	C	T	VCAN	c.1395C>T	NM_004385.4	NP_004376.2:p.(Gly465=)	NC_000005.9:g.82815520C>T	(Likely) benign	1 lab	5ebb543e84
9:140130758 SLC34A3 C>A	9	140130758	140130758	C	A	SLC34A3	c.1690C>A	NM_080877.2	NP_543153.1:p.(Arg564Ser)	NC_000009.11:g.140130758C>A	VUS	1 lab	f34a2d3bb9
7:65445273 GUSB T>A	7	65445273	65445273	T	A	GUSB	c.334A>T	NM_000181.3	NP_000172.2:p.(Thr112Ser)	NC_000007.13:g.65445273T>A	(Likely) benign	1 lab	5ebc63a679
11:17632661 OTOG G>A	11	17632661	17632661	G	A	OTOG	c.5850G>A	NM_001277269.1	NP_001264198.1:p.(Thr1950=)	NC_000011.9:g.17632661G>A	(Likely) benign	1 lab	5ebcae2a45
14:75078270 LTBP2 G>A	14	75078270	75078270	G	A	LTBP2	c.378C>T	NM_000428.2	NP_000419.1:p.(Pro126=)	NC_000014.8:g.75078270G>A	(Likely) benign	1 lab	5ebe2e8d88
19:40389702 FCGBP G>A	19	40389702	40389702	G	A	FCGBP	c.8480C>T	NM_003890.2	NP_003881.2:p.(Pro2827Leu)	NC_000019.9:g.40389702G>A	VUS	1 lab	5ebe8195f3
18:32400877 DTNA C>T	18	32400877	32400877	C	T	DTNA	c.999C>T	NM_001390.4	NP_001381.2:p.(Ile333=)	NC_000018.9:g.32400877C>T	(Likely) benign	1 lab	5ebea6b1f9
1:227174204 COQ8A C>T	1	227174204	227174204	C	T	COQ8A	c.1710C>T	NM_020247.4	NP_064632.2:p.(Phe570=)	NC_000001.10:g.227174204C>T	(Likely) benign	1 lab	5ebfe3bbf6
3:45817418 SLC6A20 A>G	3	45817418	45817418	A	G	SLC6A20	c.417T>C	NM_020208.4	NP_064593.1:p.(Cys139=)	NC_000003.11:g.45817418A>G	(Likely) benign	1 lab	f34c2fe4f0
15:80452211 FAH T>C	15	80452211	80452211	T	C	FAH	c.306T>C	NM_000137.2	NP_000128.1:p.(Leu102=)	NC_000015.9:g.80452211T>C	(Likely) benign	1 lab	5ec1f180d4
12:6134805 VWF T>C	12	6134805	6134805	T	C	VWF	c.3163A>G	NM_000552.3	NP_000543.2:p.(Met1055Val)	NC_000012.11:g.6134805T>C	(Likely) benign	1 lab	5ec594e466
X:48121212 SSX1 C>CA	X	48121212	48121213	C	CA	SSX1	c.293dup	NM_001278691.1	NP_001265620.1:p.(Met99AspfsTer24)	NC_000023.10:g.48121213dup	VUS	1 lab	5ecaafa1fa
1:237923148 RYR2 T>A	1	237923148	237923148	T	A	RYR2	c.11398T>A	NM_001035.2	NP_001026.2:p.(Cys3800Ser)	NC_000001.10:g.237923148T>A	VUS	1 lab	5ecc6c4d61
3:113005589 BOC T>A	3	113005589	113005589	T	A	BOC	c.3225T>A	NM_033254.3	NP_150279.1:p.(Ser1075Arg)	NC_000003.11:g.113005589T>A	VUS	1 lab	5eccf5aa84
13:113736779 MISSING C>A	13	113736779	113736779	C	A	MISSING				NC_000013.10:g.113736779C>A	VUS	1 lab	5ecdf005b7
3:48627699 COL7A1 G>A	3	48627699	48627699	G	A	COL7A1	c.1997C>T	NM_000094.3	NP_000085.1:p.(Ser666Leu)	NC_000003.11:g.48627699G>A	(Likely) benign	1 lab	5ecea70289
1:7725091 CAMTA1 G>A	1	7725091	7725091	G	A	CAMTA1	c.2484G>A	NM_015215.3	NP_056030.1:p.(Gln828=)	NC_000001.10:g.7725091G>A	VUS	1 lab	5ed48efd15
12:6554298 CD27 G>A	12	6554298	6554298	G	A	CD27	c.37G>A	NM_001242.4	NP_001233.1:p.(Gly13Arg)	NC_000012.11:g.6554298G>A	VUS	1 lab	5ed4b1afac
5:44388553 FGF10 G>T	5	44388553	44388553	G	T	FGF10	c.232C>A	NM_004465.1	NP_004456.1:p.(Arg78Ser)	NC_000005.9:g.44388553G>T	VUS	1 lab	5ed5bcfc86
16:2550393 TBC1D24 C>A	16	2550393	2550393	C	A	TBC1D24	c.1427C>A	NM_001199107.1	NP_001186036.1:p.(Ala476Asp)	NC_000016.9:g.2550393C>A	VUS	1 lab	5edea6c1d3
15:30654704 CHRFAM7A G>A	15	30654704	30654704	G	A	CHRFAM7A	c.1031C>T	NM_139320.1	NP_647536.1:p.(Ala344Val)	NC_000015.9:g.30654704G>A	(Likely) benign	1 lab	5edea71b37
9:103046885 INVS G>T	9	103046885	103046885	G	T	INVS	c.1780G>T	NM_001318381.1	NP_001305310.1:p.(Glu594Ter)	NC_000009.11:g.103046885G>T	(Likely) pathogenic	1 lab	5edfdfaa00
17:41245282 BRCA1 T>C	17	41245282	41245282	T	C	BRCA1	c.2266A>G	NM_007294.3	NP_009225.1:p.(Arg756Gly)	NC_000017.10:g.41245282T>C	(Likely) benign	1 lab	5ee092cb39
17:42429780 GRN C>T	17	42429780	42429780	C	T	GRN	c.1485C>T	NM_002087.2	NP_002078.1:p.(Cys495=)	NC_000017.10:g.42429780C>T	(Likely) benign	1 lab	5ee13f394e
19:42474440 ATP1A3 C>T	19	42474440	42474440	C	T	ATP1A3	c.2478G>A	NM_001256214.1	NP_001243143.1:p.(Ala826=)	NC_000019.9:g.42474440C>T	(Likely) benign	1 lab	5ee232f103
X:49034374 PRICKLE3 G>A	X	49034374	49034374	G	A	PRICKLE3	c.923C>T	NM_006150.4	NP_006141.2:p.(Ala308Val)	NC_000023.10:g.49034374G>A	(Likely) benign	1 lab	5ee3b5f9a7
X:83128186 CYLC1 A>C	X	83128186	83128186	A	C	CYLC1	c.470A>C	NM_021118.2	NP_066941.1:p.(Glu157Ala)	NC_000023.10:g.83128186A>C	(Likely) benign	1 lab	5ee3cfff2a
1:203807195 ZC3H11A A>G	1	203807195	203807195	A	G	ZC3H11A	c.973+3A>G	NM_001319238.1	NP_001306167.1:p.?	NC_000001.10:g.203807195A>G	VUS	1 lab	5ee7175b97
11:67761245 UNC93B1 C>T	11	67761245	67761245	C	T	UNC93B1	c.1384G>A	NM_030930.2	NP_112192.2:p.(Glu462Lys)	NC_000011.9:g.67761245C>T	VUS	1 lab	5ee793fd9b
6:119136088 MCM9 C>T	6	119136088	119136088	C	T	MCM9	c.3331G>A	NM_017696.2	NP_060166.2:p.(Glu1111Lys)	NC_000006.11:g.119136088C>T	(Likely) benign	1 lab	5ee7aae80e
12:100796485 SLC17A8 G>A	12	100796485	100796485	G	A	SLC17A8	c.1015G>A	NM_139319.2	NP_647480.1:p.(Ala339Thr)	NC_000012.11:g.100796485G>A	VUS	1 lab	5ee90b1e7d
2:152541350 NEB T>C	2	152541350	152541350	T	C	NEB	c.2777A>G	NM_001271208.1	NP_001258137.1:p.(Tyr926Cys)	NC_000002.11:g.152541350T>C	VUS	1 lab	5eea0b8e18
8:48713534 PRKDC C>T	8	48713534	48713534	C	T	PRKDC	c.9936G>A	NM_006904.6	NP_008835.5:p.(Val3312=)	NC_000008.10:g.48713534C>T	(Likely) benign	1 lab	5eea23ef22
17:29508482 NF1 T>G	17	29508482	29508482	T	G	NF1	c.629T>G	NM_000267.3	NP_000258.1:p.(Leu210Ter)	NC_000017.10:g.29508482T>G	(Likely) pathogenic	1 lab	5eea50cf28
6:24667016 TDP2 C>T	6	24667016	24667016	C	T	TDP2	c.75G>A	NM_016614.2	NP_057698.2:p.(Arg25=)	NC_000006.11:g.24667016C>T	(Likely) benign	1 lab	5eeaa4dc25
11:62303563 AHNAK T>A	11	62303563	62303563	T	A	AHNAK	c.8A>T	NM_001620.3	NP_001611.1:p.(Lys3Met)	NC_000011.9:g.62303563T>A	VUS	1 lab	f3537ed371
19:50789809 MYH14 G>A	19	50789809	50789809	G	A	MYH14	c.4610G>A	NM_001145809.1	NP_001139281.1:p.(Arg1537Gln)	NC_000019.9:g.50789809G>A	VUS	1 lab	5eec3a3e5f
X:23724822 ACOT9 CG>C	X	23724822	23724823	CG	C	ACOT9	c.764del	NM_001037171.2	NP_001032248.1:p.(Thr255SerfsTer4)	NC_000023.10:g.23724823del	VUS	1 lab	5eec4bc827
11:118498951 PHLDB1 C>T	11	118498951	118498951	C	T	PHLDB1	c.1412C>T	NM_015157.3	NP_055972.1:p.(Pro471Leu)	NC_000011.9:g.118498951C>T	(Likely) benign	1 lab	5ef0a44dff
12:111856413 SH2B3 C>T	12	111856413	111856413	C	T	SH2B3	c.464C>T	NM_005475.2	NP_005466.1:p.(Pro155Leu)	NC_000012.11:g.111856413C>T	VUS	1 lab	5ef0b7b3e2
X:49103285 CCDC22 C>T	X	49103285	49103285	C	T	CCDC22	c.808C>T	NM_014008.4	NP_054727.1:p.(Arg270Trp)	NC_000023.10:g.49103285C>T	VUS	1 lab	5ef491d123
11:68115353 LRP5 C>T	11	68115353	68115353	C	T	LRP5	c.130C>T	NM_002335.3	NP_002326.2:p.(Arg44Trp)	NC_000011.9:g.68115353C>T	VUS	1 lab	5ef549c639
17:11550458 DNAH9 A>G	17	11550458	11550458	A	G	DNAH9	c.2040A>G	NM_001372.3	NP_001363.2:p.(Gln680=)	NC_000017.10:g.11550458A>G	(Likely) benign	1 lab	5ef5a6be39
7:151859763 KMT2C C>A	7	151859763	151859763	C	A	KMT2C	c.10899G>T	NM_170606.2	NP_733751.2:p.(Pro3633=)	NC_000007.13:g.151859763C>A	(Likely) benign	1 lab	5ef5c442f5
X:153296439 MECP2 G>A	X	153296439	153296439	G	A	MECP2	c.840C>T	NM_004992.3	NP_004983.1:p.(Ala280=)	NC_000023.10:g.153296439G>A	(Likely) benign	1 lab	5ef820f4de
11:562360 RASSF7 C>T	11	562360	562360	C	T	RASSF7	c.406C>T	NM_003475.4	NP_003466.1:p.(Leu136Phe)	NC_000011.9:g.562360C>T	(Likely) benign	1 lab	5ef88099f9
1:183093911 LAMC1 C>T	1	183093911	183093911	C	T	LAMC1	c.2547C>T	NM_002293.3	NP_002284.3:p.(Cys849=)	NC_000001.10:g.183093911C>T	(Likely) benign	1 lab	5efa3c2cae
17:1565234 PRPF8 T>C	17	1565234	1565234	T	C	PRPF8	c.3988A>G	NM_006445.4	NP_006436.3:p.(Met1330Val)	NC_000017.10:g.1565234T>C	(Likely) benign	1 lab	f3570a2b38
2:238303679 COL6A3 G>C	2	238303679	238303679	G	C	COL6A3	c.260C>G	NM_004369.4	NP_004360.2:p.(Pro87Arg)	NC_000002.11:g.238303679G>C	VUS	1 lab	f35c2c567c
2:29449825 ALK G>A	2	29449825	29449825	G	A	ALK				NC_000002.11:g.29449825G>A	(Likely) benign	1 lab	5efcdf72ed
19:36558896 WDR62 A>G	19	36558896	36558896	A	G	WDR62	c.866A>G	NM_001083961.1	NP_001077430.1:p.(Lys289Arg)	NC_000019.9:g.36558896A>G	(Likely) benign	1 lab	5efd2c69c6
17:40359729 STAT5B T>G	17	40359729	40359729	T	G	STAT5B	c.1924A>C	NM_012448.3	NP_036580.2:p.(Asn642His)	NC_000017.10:g.40359729T>G	VUS	1 lab	5efd4815d9
4:3076647 HTT AGCAGCAGCAG>A	4	3076647	3076657	AGCAGCAGCAG	A	HTT	c.96_105del	NM_001388492.1	NP_001375421.1:p.(Gln32HisfsTer66)	NC_000004.11:g.3076648_3076657del	(Likely) benign	1 lab	5eff35e44e
Y:14969547 USP9Y C>T	Y	14969547	14969547	C	T	USP9Y	c.7491C>T	NM_004654.3	NP_004645.2:p.(Ala2497=)	NC_000024.9:g.14969547C>T	(Likely) benign	1 lab	5eff38e370
X:122537313 GRIA3 A>C	X	122537313	122537313	A	C	GRIA3	c.1236A>C	NM_000828.4	NP_000819.3:p.(Gln412His)	NC_000023.10:g.122537313A>C	VUS	1 lab	5eff742b74
11:14529270 PSMA1 T>C	11	14529270	14529270	T	C	PSMA1	c.685A>G	NM_148976.2	NP_683877.1:p.(Ile229Val)	NC_000011.9:g.14529270T>C	(Likely) benign	1 lab	5eff8da9f3
8:145737878 RECQL4 G>A	8	145737878	145737878	G	A	RECQL4	c.2952C>T	NM_004260.3	NP_004251.3:p.(Ser984=)	NC_000008.10:g.145737878G>A	(Likely) benign	1 lab	5f00b338b4
14:20846368 TEP1 G>A	14	20846368	20846368	G	A	TEP1	c.5536C>T	NM_007110.5	NP_009041.2:p.(Arg1846Cys)	NC_000014.8:g.20846368G>A	(Likely) benign	1 lab	5f02dfe96a
16:56543881 BBS2 C>A	16	56543881	56543881	C	A	BBS2	c.600G>T	NM_031885.3	NP_114091.3:p.(Met200Ile)	NC_000016.9:g.56543881C>A	VUS	1 lab	5f030d5a9c
13:41379276 SLC25A15 G>A	13	41379276	41379276	G	A	SLC25A15	c.337G>A	NM_014252.3	NP_055067.1:p.(Gly113Ser)	NC_000013.10:g.41379276G>A	VUS	1 lab	5f03354bae
22:38120080 TRIOBP A>T	22	38120080	38120080	A	T	TRIOBP	c.1517A>T	NM_001039141.2	NP_001034230.1:p.(Gln506Leu)	NC_000022.10:g.38120080A>T	VUS	1 lab	5f03603458
15:65917584 SLC24A1 T>A	15	65917584	65917584	T	A	SLC24A1	c.1166T>A	NM_004727.2	NP_004718.1:p.(Met389Lys)	NC_000015.9:g.65917584T>A	(Likely) benign	1 lab	5f04141d80
16:2114341 TSC2 C>G	16	2114341	2114341	C	G	TSC2	c.1512C>G	NM_000548.3	NP_000539.2:p.(Val504=)	NC_000016.9:g.2114341C>G	(Likely) benign	1 lab	5f051eeb3e
X:55042134 ALAS2 G>T	X	55042134	55042134	G	T	ALAS2	c.1045C>A	NM_000032.5	NP_000023.2:p.(Gln349Lys)	NC_000023.10:g.55042134G>T	(Likely) benign	1 lab	5f052fd28f
13:103054016 FGF14 C>T	13	103054016	103054016	C	T	FGF14	c.13G>A	NM_001321937.2	NP_001308866.1:p.(Val5Met)	NC_000013.10:g.103054016C>T	VUS	1 lab	f35f356261
11:113283486 DRD2 C>T	11	113283486	113283486	C	T	DRD2	c.930G>A	NM_000795.3	NP_000786.1:p.(Pro310=)	NC_000011.9:g.113283486C>T	(Likely) benign	1 lab	5f076deeb4
11:66467077 SPTBN2 T>A	11	66467077	66467077	T	A	SPTBN2	c.3576A>T	NM_006946.3	NP_008877.1:p.(Glu1192Asp)	NC_000011.9:g.66467077T>A	VUS	1 lab	5f0b0b260c
2:176044877 ATP5MC3 T>C	2	176044877	176044877	T	C	ATP5MC3	c.69A>G	NM_001190329.2	NP_001177258.1:p.(Arg23=)	NC_000002.11:g.176044877T>C	(Likely) benign	1 lab	f363b407aa
X:131516228 MBNL3 G>A	X	131516228	131516228	G	A	MBNL3	c.743C>T	NM_001170704.1	NP_001164175.1:p.(Ala248Val)	NC_000023.10:g.131516228G>A	(Likely) benign	1 lab	5f0c7bfd13
8:38884276 ADAM9 T>C	8	38884276	38884276	T	C	ADAM9	c.1077T>C	NM_003816.2	NP_003807.1:p.(Asp359=)	NC_000008.10:g.38884276T>C	(Likely) benign	1 lab	5f0c8377c1
6:152642499 SYNE1 G>T	6	152642499	152642499	G	T	SYNE1	c.16110C>A	NM_182961.3	NP_892006.3:p.(His5370Gln)	NC_000006.11:g.152642499G>T	(Likely) benign	1 lab	5f0cc2a181
22:38120764 TRIOBP C>T	22	38120764	38120764	C	T	TRIOBP	c.2201C>T	NM_001039141.2	NP_001034230.1:p.(Ser734Phe)	NC_000022.10:g.38120764C>T	VUS	1 lab	5f0f798480
18:6947177 LAMA1 C>T	18	6947177	6947177	C	T	LAMA1	c.8829G>A	NM_005559.3	NP_005550.2:p.(Glu2943=)	NC_000018.9:g.6947177C>T	(Likely) benign	1 lab	5f10132571
18:47527696 MYO5B C>T	18	47527696	47527696	C	T	MYO5B	c.541G>A	NM_001080467.2	NP_001073936.1:p.(Ala181Thr)	NC_000018.9:g.47527696C>T	VUS	1 lab	5f1053ebc2
17:80559335 FOXK2 C>T	17	80559335	80559335	C	T	FOXK2	c.1943C>T	NM_004514.4	NP_004505.2:p.(Thr648Met)	NC_000017.10:g.80559335C>T	VUS	1 lab	5f10672ae0
16:2159097 PKD1 C>T	16	2159097	2159097	C	T	PKD1	c.6071G>A	NM_001009944.2	NP_001009944.2:p.(Arg2024His)	NC_000016.9:g.2159097C>T	(Likely) benign	1 lab	5f151cb000
9:13176225 MPDZ T>C	9	13176225	13176225	T	C	MPDZ	c.2841A>G	NM_003829.4	NP_003820.2:p.(Glu947=)	NC_000009.11:g.13176225T>C	(Likely) benign	1 lab	5f16fe3c38
8:116617106 TRPS1 C>T	8	116617106	116617106	C	T	TRPS1	c.1090G>A	NM_014112.4	NP_054831.2:p.(Glu364Lys)	NC_000008.10:g.116617106C>T	VUS	1 lab	5f17609be0
3:195481127 MUC4 C>G	3	195481127	195481127	C	G	MUC4	c.15285G>C	NM_018406.6	NP_060876.5:p.(Glu5095Asp)	NC_000003.11:g.195481127C>G	(Likely) benign	1 lab	5f18234ae1
22:38119789 TRIOBP G>A	22	38119789	38119789	G	A	TRIOBP	c.1226G>A	NM_001039141.2	NP_001034230.1:p.(Arg409Gln)	NC_000022.10:g.38119789G>A	(Likely) benign	1 lab	5f1a06719c
18:6942196 LAMA1 C>T	18	6942196	6942196	C	T	LAMA1	c.9110G>A	NM_005559.3	NP_005550.2:p.(Arg3037His)	NC_000018.9:g.6942196C>T	(Likely) benign	1 lab	5f1a78e262
2:170356022 BBS5 A>G	2	170356022	170356022	A	G	BBS5	c.708A>G	NM_152384.2	NP_689597.1:p.(Lys236=)	NC_000002.11:g.170356022A>G	VUS	1 lab	5f1aa438cb
8:28575097 EXTL3 T>C	8	28575097	28575097	T	C	EXTL3	c.1521T>C	NM_001440.3	NP_001431.1:p.(Ala507=)	NC_000008.10:g.28575097T>C	(Likely) benign	1 lab	5f1c807530
10:85972887 CDHR1 A>T	10	85972887	85972887	A	T	CDHR1	c.1823A>T	NM_033100.4	NP_149091.1:p.(Asp608Val)	NC_000010.10:g.85972887A>T	VUS	1 lab	5f1cab1baa
X:103349336 SLC25A53 C>G	X	103349336	103349336	C	G	SLC25A53	c.605G>C	NM_001012755.5	NP_001012773.2:p.(Gly202Ala)	NC_000023.10:g.103349336C>G	(Likely) benign	1 lab	5f1cd6b752
6:33148764 COL11A2 G>T	6	33148764	33148764	G	T	COL11A2	c.1198C>A	NM_080680.2	NP_542411.2:p.(Pro400Thr)	NC_000006.11:g.33148764G>T	VUS	1 lab	5f1d2ba5b4
10:96033452 PLCE1 C>T	10	96033452	96033452	C	T	PLCE1	c.4640C>T	NM_016341.3	NP_057425.3:p.(Thr1547Met)	NC_000010.10:g.96033452C>T	VUS	1 lab	5f1d3de916
17:4027252 ZZEF1 C>G	17	4027252	4027252	C	G	ZZEF1	c.448G>C	NM_015113.4	NP_055928.3:p.(Gly150Arg)	NC_000017.10:g.4027252C>G	VUS	1 lab	5f1db75499
2:15607826 NBAS C>T	2	15607826	15607826	C	T	NBAS	c.1980G>A	NM_015909.3	NP_056993.2:p.(Lys660=)	NC_000002.11:g.15607826C>T	(Likely) benign	1 lab	5f1e4fdcf7
8:42146240 IKBKB T>C	8	42146240	42146240	T	C	IKBKB	c.194T>C	NM_001556.3	NP_001547.1:p.(Met65Thr)	NC_000008.10:g.42146240T>C	VUS	1 lab	5f210f2ed8
X:153032520 PLXNB3 G>A	X	153032520	153032520	G	A	PLXNB3	c.307G>A	NM_001163257.1	NP_001156729.1:p.(Glu103Lys)	NC_000023.10:g.153032520G>A	(Likely) benign	1 lab	5f23b77438
1:70897905 CTH G>A	1	70897905	70897905	G	A	CTH	c.864G>A	NM_001902.5	NP_001893.2:p.(Lys288=)	NC_000001.10:g.70897905G>A	(Likely) benign	1 lab	5f24c4e6fa
16:2143650 PKD1 C>T	16	2143650	2143650	C	T	PKD1	c.10911G>A	NM_001009944.2	NP_001009944.2:p.(Thr3637=)	NC_000016.9:g.2143650C>T	(Likely) benign	1 lab	5f269c6ce4
12:109968439 UBE3B G>A	12	109968439	109968439	G	A	UBE3B	c.2898G>A	NM_130466.3	NP_569733.2:p.(Pro966=)	NC_000012.11:g.109968439G>A	VUS	1 lab	5f26f7b99a
15:89848591 FANCI C>G	15	89848591	89848591	C	G	FANCI	c.3206C>G	NM_001113378.1	NP_001106849.1:p.(Thr1069Arg)	NC_000015.9:g.89848591C>G	(Likely) benign	1 lab	5f2725783a
X:55515245 USP51 C>T	X	55515245	55515245	C	T	USP51	c.128G>A	NM_201286.3	NP_958443.1:p.(Gly43Glu)	NC_000023.10:g.55515245C>T	(Likely) benign	1 lab	5f27db7369
2:234675826 UGT1A1 T>C	2	234675826	234675826	T	C	UGT1A1	c.996+15T>C	NM_000463.2	NP_000454.1:p.?	NC_000002.11:g.234675826T>C	(Likely) benign	1 lab	5f2910222a
12:125473499 DHX37 G>A	12	125473499	125473499	G	A	DHX37	c.70C>T	NM_032656.4	NP_116045.2:p.(Pro24Ser)	NC_000012.11:g.125473499G>A	(Likely) benign	1 lab	5f29ba3fd6
17:73832921 UNC13D G>A	17	73832921	73832921	G	A	UNC13D	c.1134C>T	NM_199242.2	NP_954712.1:p.(Ile378=)	NC_000017.10:g.73832921G>A	(Likely) benign	1 lab	5f2a1555ce
18:67809632 RTTN CA>C	18	67809632	67809647	CA	C	RTTN	c.2482-10del	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67809647del	(Likely) benign	1 lab	5f2a3bcabf
16:3824634 CREBBP C>T	16	3824634	3824634	C	T	CREBBP	c.2219G>A	NM_004380.2	NP_004371.2:p.(Gly740Glu)	NC_000016.9:g.3824634C>T	VUS	1 lab	5f2ac06f58
9:98774922 ERCC6L2 A>C	9	98774922	98774922	A	C	ERCC6L2	c.4123A>C	NM_020207.4	NP_064592.2:p.(Thr1375Pro)	NC_000009.11:g.98774922A>C	VUS	1 lab	5f2c35a0b5
11:8123157 TUB G>A	11	8123157	8123157	G	A	TUB	c.1677G>A	NM_003320.4	NP_003311.2:p.(Ala559=)	NC_000011.9:g.8123157G>A	(Likely) benign	1 lab	5f2c91482e
3:49160408 LAMB2 C>T	3	49160408	49160408	C	T	LAMB2	c.4302G>A	NM_002292.3	NP_002283.3:p.(Gln1434=)	NC_000003.11:g.49160408C>T	(Likely) benign	1 lab	5f2cf96379
13:37439706 SMAD9 G>A	13	37439706	37439706	G	A	SMAD9	c.971C>T	NM_001127217.2	NP_001120689.1:p.(Thr324Met)	NC_000013.10:g.37439706G>A	VUS	1 lab	5f2cfe04ff
11:121414348 SORL1 A>G	11	121414348	121414348	A	G	SORL1	c.1777A>G	NM_003105.5	NP_003096.1:p.(Lys593Glu)	NC_000011.9:g.121414348A>G	(Likely) benign	1 lab	5f2d931e70
5:134364522 PITX1 C>T	5	134364522	134364522	C	T	PITX1	c.892G>A	NM_002653.4	NP_002644.4:p.(Gly298Ser)	NC_000005.9:g.134364522C>T	(Likely) benign	1 lab	5f2e645331
17:73517472 TSEN54 G>A	17	73517472	73517472	G	A	TSEN54	c.522-18G>A	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73517472G>A	(Likely) benign	1 lab	5f2f993b04
1:234614186 TARBP1 C>G	1	234614186	234614186	C	G	TARBP1	c.664G>C	NM_005646.4	NP_005637.3:p.(Gly222Arg)	NC_000001.10:g.234614186C>G	(Likely) benign	1 lab	5f2fe266e6
11:609002 PHRF1 G>A	11	609002	609002	G	A	PHRF1	c.3546G>A	NM_001286581.2	NP_001273510.1:p.(Glu1182=)	NC_000011.9:g.609002G>A	(Likely) benign	1 lab	5f30c7581e
X:48690487 PCSK1N C>T	X	48690487	48690487	C	T	PCSK1N	c.379G>A	NM_013271.5	NP_037403.1:p.(Asp127Asn)	NC_000023.10:g.48690487C>T	(Likely) benign	1 lab	5f32176c8a
12:120166407 CIT T>C	12	120166407	120166407	T	C	CIT	c.3491A>G	NM_001206999.1	NP_001193928.1:p.(Asn1164Ser)	NC_000012.11:g.120166407T>C	VUS	1 lab	5f32f4f9a5
X:18911621 PHKA2 C>G	X	18911621	18911621	C	G	PHKA2	c.3690G>C	NM_000292.2	NP_000283.1:p.(Ser1230=)	NC_000023.10:g.18911621C>G	(Likely) benign	1 lab	5f340b02d0
6:44222995 SLC35B2 C>T	6	44222995	44222995	C	T	SLC35B2	c.348G>A	NM_001286520.1	NP_001273449.1:p.(Gly116=)	NC_000006.11:g.44222995C>T	(Likely) benign	1 lab	5f3528c9ca
1:7980923 TNFRSF9 T>C	1	7980923	7980923	T	C	TNFRSF9	c.740A>G	NM_001561.5	NP_001552.2:p.(Glu247Gly)	NC_000001.10:g.7980923T>C	VUS	1 lab	5f354834c8
5:68805373 OCLN G>A	5	68805373	68805373	G	A	OCLN	c.456G>A	NM_002538.3	NP_002529.1:p.(Ala152=)	NC_000005.9:g.68805373G>A	(Likely) benign	1 lab	5f367e825f
X:153587511 FLNA TGAAAG>T	X	153587511	153587518	TGAAAG	T	FLNA	c.4310_4314del	NM_001110556.2	NP_001104026.1:p.(Pro1437GlnfsTer6)	NC_000023.10:g.153587514_153587518del	(Likely) pathogenic	1 lab	5f36af7bc4
X:24383256 SUPT20HL1 G>A	X	24383256	24383256	G	A	SUPT20HL1	c.2457G>A	NM_001136234.2	NP_001129706.2:p.(Pro819=)	NC_000023.10:g.24383256G>A	(Likely) benign	1 lab	5f372c96da
7:47847951 PKD1L1 G>T	7	47847951	47847951	G	T	PKD1L1	c.7721C>A	NM_138295.5	NP_612152.1:p.(Ala2574Glu)	NC_000007.13:g.47847951G>T	VUS	1 lab	f36a84772a
15:83933559 BNC1 T>C	15	83933559	83933559	T	C	BNC1	c.423A>G	NM_001301206.1	NP_001288135.1:p.(Ser141=)	NC_000015.9:g.83933559T>C	(Likely) benign	1 lab	5f3b188c4a
12:40671773 LRRK2 A>G	12	40671773	40671773	A	G	LRRK2	c.2025A>G	NM_198578.3	NP_940980.3:p.(Ile675Met)	NC_000012.11:g.40671773A>G	VUS	1 lab	5f3b9faa6a
7:107194784 COG5 CA>C	7	107194784	107194786	CA	C	COG5	c.237del	NM_006348.5	NP_006339.4:p.(Val80LeufsTer23)	NC_000007.13:g.107194786del	(Likely) pathogenic	1 lab	5f3ca321ef
10:27366576 ANKRD26 T>C	10	27366576	27366576	T	C	ANKRD26	c.860A>G	NM_014915.2	NP_055730.2:p.(Gln287Arg)	NC_000010.10:g.27366576T>C	(Likely) benign	1 lab	5f3cc8eacc
12:49438758 KMT2D A>AG	12	49438758	49438760	A	AG	KMT2D	c.4742-11dup	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49438760dup	(Likely) benign	1 lab	5f3d0402b8
10:50678615 ERCC6 T>C	10	50678615	50678615	T	C	ERCC6	c.3391A>G	NM_001346440.1	NP_001333369.1:p.(Asn1131Asp)	NC_000010.10:g.50678615T>C	(Likely) benign	1 lab	5f3e5eb2c4
1:6509021 ESPN GCCACCGCCGCCC>G	1	6509021	6509044	GCCACCGCCGCCC	G	ESPN	c.1797_1808del	NM_031475.3	NP_113663.2:p.(Pro602_Pro605del)	NC_000001.10:g.6509033_6509044del	VUS	1 lab	5f3f467c4d
17:72306188 DNAI2 G>T	17	72306188	72306188	G	T	DNAI2	c.1380G>T	NM_001353167.1	NP_001340096.1:p.(Val460=)	NC_000017.10:g.72306188G>T	(Likely) benign	1 lab	5f3f8f864e
11:72145164 CLPB C>A	11	72145164	72145164	C	A	CLPB	c.355G>T	NM_030813.6	NP_110440.1:p.(Ala119Ser)	NC_000011.9:g.72145164C>A	VUS	1 lab	5f40e0926a
21:34045830 SYNJ1 C>T	21	34045830	34045830	C	T	SYNJ1	c.1663G>A	NM_203446.2	NP_982271.2:p.(Val555Ile)	NC_000021.8:g.34045830C>T	(Likely) benign	1 lab	5f43fc157c
1:152286020 FLG G>T	1	152286020	152286020	G	T	FLG	c.1342C>A	NM_002016.1	NP_002007.1:p.(Gln448Lys)	NC_000001.10:g.152286020G>T	(Likely) benign	1 lab	5f4597336d
15:63978726 HERC1 G>A	15	63978726	63978726	G	A	HERC1	c.6057C>T	NM_003922.3	NP_003913.3:p.(Gly2019=)	NC_000015.9:g.63978726G>A	VUS	1 lab	5f45b32a7e
2:96964070 SNRNP200 G>A	2	96964070	96964070	G	A	SNRNP200	c.1071C>T	NM_014014.4	NP_054733.2:p.(Ser357=)	NC_000002.11:g.96964070G>A	(Likely) benign	1 lab	5f476cecf5
15:89867082 POLG G>T	15	89867082	89867082	G	T	POLG	c.2121C>A	NM_002693.2	NP_002684.1:p.(Asn707Lys)	NC_000015.9:g.89867082G>T	(Likely) benign	1 lab	5f48e90ed8
13:40229932 COG6 G>T	13	40229932	40229932	G	T	COG6	c.69G>T	NM_001145079.1	NP_001138551.1:p.(Gly23=)	NC_000013.10:g.40229932G>T	(Likely) benign	1 lab	5f4b4f2929
X:109696118 RTL9 C>G	X	109696118	109696118	C	G	RTL9	c.2273C>G	NM_020769.2	NP_065820.1:p.(Thr758Arg)	NC_000023.10:g.109696118C>G	(Likely) benign	1 lab	5f4be9531e
17:39661574 KRT13 GGCCACCTCCATA>G	17	39661574	39661596	GGCCACCTCCATA	G	KRT13	c.217_228del	NM_002274.4	NP_002265.3:p.(Tyr73_Gly76del)	NC_000017.10:g.39661585_39661596del	VUS	1 lab	f36b7d33d9
15:89868829 POLG T>A	15	89868829	89868829	T	A	POLG	c.1801A>T	NM_002693.2	NP_002684.1:p.(Lys601Ter)	NC_000015.9:g.89868829T>A	(Likely) pathogenic	1 lab	5f4e218741
9:130980591 DNM1 C>T	9	130980591	130980591	C	T	DNM1	c.235+8C>T	NM_001288738.1	NP_001275667.1:p.?	NC_000009.11:g.130980591C>T	(Likely) benign	1 lab	5f4ff9e568
20:4680397 PRNP C>T	20	4680397	4680397	C	T	PRNP	c.531C>T	NM_000311.4	NP_000302.1:p.(His177=)	NC_000020.10:g.4680397C>T	(Likely) benign	1 lab	5f5045aad8
18:19395608 MIB1 CA>C	18	19395608	19395609	CA	C	MIB1	c.1512del	NM_020774.4	NP_065825.1:p.(Ala505LeufsTer9)	NC_000018.9:g.19395609del	(Likely) pathogenic	1 lab	5f504d5df1
1:150526851 ADAMTSL4 C>G	1	150526851	150526851	C	G	ADAMTSL4	c.1142C>G	NM_001288608.1	NP_001275537.1:p.(Pro381Arg)	NC_000001.10:g.150526851C>G	VUS	1 lab	5f514786c9
13:103718319 SLC10A2 G>A	13	103718319	103718319	G	A	SLC10A2	c.281C>T	NM_000452.2	NP_000443.1:p.(Pro94Leu)	NC_000013.10:g.103718319G>A	VUS	1 lab	5f51e73a1a
X:53458435 HSD17B10 G>A	X	53458435	53458435	G	A	HSD17B10	c.703C>T	NM_004493.2	NP_004484.1:p.(His235Tyr)	NC_000023.10:g.53458435G>A	VUS	1 lab	5f52165c1e
15:48752446 FBN1 C>T	15	48752446	48752446	C	T	FBN1	c.5293G>A	NM_000138.4	NP_000129.3:p.(Val1765Ile)	NC_000015.9:g.48752446C>T	VUS	1 lab	5f52cfd8d8
6:70991159 COL9A1 G>C	6	70991159	70991159	G	C	COL9A1	c.810C>G	NM_001851.4	NP_001842.3:p.(Pro270=)	NC_000006.11:g.70991159G>C	(Likely) benign	1 lab	5f53f3c512
3:119211285 POGLUT1 G>A	3	119211285	119211285	G	A	POGLUT1	c.1179G>A	NM_152305.2	NP_689518.1:p.(Ter393=)	NC_000003.11:g.119211285G>A	(Likely) benign	1 lab	5f545c3390
1:159161840 CADM3 A>G	1	159161840	159161840	A	G	CADM3	c.305A>G	NM_021189.4	NP_067012.1:p.(Gln102Arg)	NC_000001.10:g.159161840A>G	VUS	1 lab	5f54e0505e
9:131346218 SPTAN1 A>C	9	131346218	131346218	A	C	SPTAN1	c.2163A>C	NM_001130438.3	NP_001123910.1:p.(Ala721=)	NC_000009.11:g.131346218A>C	(Likely) benign	1 lab	f36be95953
11:134048587 NCAPD3 G>C	11	134048587	134048587	G	C	NCAPD3	c.2724C>G	NM_015261.2	NP_056076.1:p.(Pro908=)	NC_000011.9:g.134048587G>C	(Likely) benign	1 lab	5f55f5c1cb
14:24710252 TINF2 C>G	14	24710252	24710252	C	G	TINF2	c.578G>C	NM_012461.2	NP_036593.2:p.(Gly193Ala)	NC_000014.8:g.24710252C>G	(Likely) benign	1 lab	5f561bfb60
X:34962327 FAM47B C>T	X	34962327	34962327	C	T	FAM47B	c.1379C>T	NM_152631.2	NP_689844.2:p.(Ser460Leu)	NC_000023.10:g.34962327C>T	(Likely) benign	1 lab	5f5633b992
14:24551693 NRL C>T	14	24551693	24551693	C	T	NRL	c.365G>A	NM_006177.4	NP_006168.1:p.(Gly122Glu)	NC_000014.8:g.24551693C>T	VUS	1 lab	5f563796c3
X:153039934 PLXNB3 G>A	X	153039934	153039934	G	A	PLXNB3	c.3807G>A	NM_001163257.1	NP_001156729.1:p.(Pro1269=)	NC_000023.10:g.153039934G>A	(Likely) benign	1 lab	5f58ddb031
6:87969321 ZNF292 T>C	6	87969321	87969321	T	C	ZNF292	c.5554T>C	NM_001351444.1	NP_001338373.1:p.(Ser1852Pro)	NC_000006.11:g.87969321T>C	(Likely) benign	1 lab	5f58fffef8
11:57505845 TMX2 A>AC	11	57505845	57505852	A	AC	TMX2	c.391dup	NM_015959.4	NP_057043.1:p.(Leu131ProfsTer6)	NC_000011.9:g.57505852dup	(Likely) pathogenic	1 lab	5f591d0bff
10:96350453 HELLS A>G	10	96350453	96350453	A	G	HELLS	c.1825A>G	NM_001289067.1	NP_001275996.1:p.(Ile609Val)	NC_000010.10:g.96350453A>G	VUS	1 lab	5f5952045f
16:71149660 HYDIN G>A	16	71149660	71149660	G	A	HYDIN	c.1266C>T	NM_001270974.2	NP_001257903.1:p.(Thr422=)	NC_000016.9:g.71149660G>A	(Likely) benign	1 lab	5f5c7d3dfc
6:30080582 TRIM31 T>C	6	30080582	30080582	T	C	TRIM31	c.1A>G	NM_007028.5	NP_008959.3:p.(Met1?)	NC_000006.11:g.30080582T>C	VUS	1 lab	640ce2f5f2
2:176959205 HOXD13 CA>C	2	176959205	176959206	CA	C	HOXD13	c.782-2del	NM_000523.4	NP_000514.2:p.?	NC_000002.11:g.176959206del	(Likely) pathogenic	1 lab	5f5d8d8dff
6:56479254 DST T>C	6	56479254	56479254	T	C	DST	c.4859A>G	NM_001144769.2	NP_001138241.1:p.(His1620Arg)	NC_000006.11:g.56479254T>C	(Likely) benign	1 lab	5f5e8c7e48
20:3870343 PANK2 A>G	20	3870343	3870343	A	G	PANK2	c.596A>G	NM_153638.2	NP_705902.2:p.(Gln199Arg)	NC_000020.10:g.3870343A>G	(Likely) benign	1 lab	5f6200b85c
2:51254891 NRXN1 A>G	2	51254891	51254891	A	G	NRXN1	c.521T>C	NM_001135659.2	NP_001129131.1:p.(Val174Ala)	NC_000002.11:g.51254891A>G	(Likely) benign	1 lab	5f621b61c6
16:78466391 WWOX A>C	16	78466391	78466391	A	C	WWOX	c.798A>C	NM_016373.3	NP_057457.1:p.(Thr266=)	NC_000016.9:g.78466391A>C	(Likely) benign	1 lab	5f63d540ff
9:130635002 AK1 C>T	9	130635002	130635002	C	T	AK1	c.174G>A	NM_000476.2	NP_000467.1:p.(Ser58=)	NC_000009.11:g.130635002C>T	(Likely) benign	1 lab	5f65c66eab
Y:6931947 TBL1Y G>C	Y	6931947	6931947	G	C	TBL1Y	c.214G>C	NM_033284.1	NP_150600.1:p.(Val72Leu)	NC_000024.9:g.6931947G>C	VUS	1 lab	5f65eb7bed
15:51217275 AP4E1 T>C	15	51217275	51217275	T	C	AP4E1	c.421-20T>C	NM_007347.4	NP_031373.2:p.?	NC_000015.9:g.51217275T>C	(Likely) benign	1 lab	5f67147385
9:71844152 TJP2 T>C	9	71844152	71844152	T	C	TJP2	c.1506T>C	NM_004817.4	NP_004808.2:p.(Asp502=)	NC_000009.11:g.71844152T>C	(Likely) benign	1 lab	5f674ccfd5
17:48650143 CACNA1G G>A	17	48650143	48650143	G	A	CACNA1G	c.975G>A	NM_018896.4	NP_061496.2:p.(Ala325=)	NC_000017.10:g.48650143G>A	(Likely) benign	1 lab	5f678589f4
7:116339174 MET C>T	7	116339174	116339174	C	T	MET	c.36C>T	NM_001127500.1	NP_001120972.1:p.(Leu12=)	NC_000007.13:g.116339174C>T	(Likely) benign	1 lab	5f67872050
7:34192801 BMPER G>A	7	34192801	34192801	G	A	BMPER	c.1974G>A	NM_133468.5	NP_597725.1:p.(Pro658=)	NC_000007.13:g.34192801G>A	(Likely) benign	1 lab	5f68536a5c
4:9783790 DRD5 T>C	4	9783790	9783790	T	C	DRD5	c.137T>C	NM_000798.4	NP_000789.1:p.(Leu46Pro)	NC_000004.11:g.9783790T>C	VUS	1 lab	5f69cd0431
7:193764 FAM20C G>T	7	193764	193764	G	T	FAM20C	c.565G>T	NM_020223.4	NP_064608.2:p.(Asp189Tyr)	NC_000007.13:g.193764G>T	VUS	1 lab	5f6b64bb1b
16:775237 CCDC78 G>A	16	775237	775237	G	A	CCDC78	c.492C>T	NM_001031737.3	NP_001026907.2:p.(Gly164=)	NC_000016.9:g.775237G>A	(Likely) benign	1 lab	f37656810f
11:124763819 ROBO4 G>C	11	124763819	124763819	G	C	ROBO4	c.1441C>G	NM_019055.5	NP_061928.4:p.(Leu481Val)	NC_000011.9:g.124763819G>C	(Likely) benign	1 lab	5f6c91babf
14:68272175 ZFYVE26 G>T	14	68272175	68272175	G	T	ZFYVE26	c.1178C>A	NM_015346.3	NP_056161.2:p.(Thr393Asn)	NC_000014.8:g.68272175G>T	(Likely) benign	1 lab	5f6f0e2377
7:139636013 TBXAS1 G>A	7	139636013	139636013	G	A	TBXAS1	c.360G>A	NM_001130966.2	NP_001124438.1:p.(Ser120=)	NC_000007.13:g.139636013G>A	VUS	1 lab	5f6f2ae2ca
5:167943795 RARS1 G>A	5	167943795	167943795	G	A	RARS1	c.1465G>A	NM_002887.3	NP_002878.2:p.(Glu489Lys)	NC_000005.9:g.167943795G>A	VUS	1 lab	5f6f81e17a
X:22132604 PHEX C>T	X	22132604	22132604	C	T	PHEX	c.1202C>T	NM_000444.5	NP_000435.3:p.(Pro401Leu)	NC_000023.10:g.22132604C>T	VUS	1 lab	5f70984cd8
5:37142450 CPLANE1 C>T	5	37142450	37142450	C	T	CPLANE1	c.8432G>A	NM_023073.3	NP_075561.3:p.(Ser2811Asn)	NC_000005.9:g.37142450C>T	(Likely) benign	1 lab	5f720a7f57
11:44297023 ALX4 G>A	11	44297023	44297023	G	A	ALX4	c.652C>T	NM_021926.4	NP_068745.2:p.(Arg218Trp)	NC_000011.9:g.44297023G>A	VUS	1 lab	5f771f0130
15:90185597 KIF7 C>T	15	90185597	90185597	C	T	KIF7	c.2231G>A	NM_198525.2	NP_940927.2:p.(Arg744His)	NC_000015.9:g.90185597C>T	(Likely) benign	1 lab	5f784a014e
9:139350071 SEC16A C>T	9	139350071	139350071	C	T	SEC16A	c.5839G>A	NM_014866.1	NP_055681.1:p.(Val1947Met)	NC_000009.11:g.139350071C>T	VUS	1 lab	5f78b6db43
14:64520027 SYNE2 G>C	14	64520027	64520027	G	C	SYNE2	c.9396G>C	NM_182914.2	NP_878918.2:p.(Lys3132Asn)	NC_000014.8:g.64520027G>C	(Likely) benign	1 lab	5f78f51246
16:88498766 ZNF469 G>A	16	88498766	88498766	G	A	ZNF469				NC_000016.9:g.88498766G>A	(Likely) benign	1 lab	5f797b685f
X:48546761 WAS G>A	X	48546761	48546761	G	A	WAS	c.850G>A	NM_000377.2	NP_000368.1:p.(Ala284Thr)	NC_000023.10:g.48546761G>A	(Likely) benign	1 lab	5f79a4b370
18:7079992 LAMA1 G>A	18	7079992	7079992	G	A	LAMA1	c.327C>T	NM_005559.3	NP_005550.2:p.(Ile109=)	NC_000018.9:g.7079992G>A	(Likely) benign	1 lab	5f7a833913
X:55020371 PFKFB1 T>C	X	55020371	55020371	T	C	PFKFB1	c.70A>G	NM_002625.3	NP_002616.2:p.(Ser24Gly)	NC_000023.10:g.55020371T>C	(Likely) benign	1 lab	5f7abb7c0e
21:44273793 WDR4 C>T	21	44273793	44273793	C	T	WDR4	c.861G>A	NM_033661.4	NP_387510.1:p.(Ala287=)	NC_000021.8:g.44273793C>T	(Likely) benign	1 lab	5f7ae54532
16:1842209 IGFALS A>G	16	1842209	1842209	A	G	IGFALS	c.210T>C	NM_004970.2	NP_004961.1:p.(Asp70=)	NC_000016.9:g.1842209A>G	(Likely) benign	1 lab	5f7be28b00
4:101950338 PPP3CA T>A	4	101950338	101950338	T	A	PPP3CA	c.1354A>T	NM_000944.5	NP_000935.1:p.(Ile452Phe)	NC_000004.11:g.101950338T>A	VUS	1 lab	5f7c601b20
6:159653762 FNDC1 C>T	6	159653762	159653762	C	T	FNDC1	c.2218C>T	NM_032532.3	NP_115921.2:p.(Leu740Phe)	NC_000006.11:g.159653762C>T	VUS	1 lab	5f7d3f4b05
17:63545766 AXIN2 C>T	17	63545766	63545766	C	T	AXIN2	c.828G>A	NM_004655.3	NP_004646.3:p.(Arg276=)	NC_000017.10:g.63545766C>T	(Likely) benign	1 lab	5f7d7c7516
12:46246489 ARID2 C>T	12	46246489	46246489	C	T	ARID2	c.4583C>T	NM_152641.3	NP_689854.2:p.(Ala1528Val)	NC_000012.11:g.46246489C>T	VUS	1 lab	5f7f968147
19:3980712 EEF2 G>C	19	3980712	3980712	G	C	EEF2	c.1151-5C>G	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3980712G>C	(Likely) benign	1 lab	5f7ff8b55b
14:23243580 SLC7A7 G>A	14	23243580	23243580	G	A	SLC7A7	c.1228C>T	NM_001126106.2	NP_001119578.1:p.(Arg410Ter)	NC_000014.8:g.23243580G>A	(Likely) pathogenic	1 lab	5f81c960f7
X:110491986 CAPN6 C>T	X	110491986	110491986	C	T	CAPN6	c.1295G>A	NM_014289.3	NP_055104.2:p.(Arg432His)	NC_000023.10:g.110491986C>T	VUS	1 lab	5f873f56f1
15:28369386 HERC2 A>G	15	28369386	28369386	A	G	HERC2	c.12991-6T>C	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28369386A>G	(Likely) benign	1 lab	5f8830b9e1
16:89882359 FANCA T>G	16	89882359	89882359	T	G	FANCA	c.115A>C	NM_001286167.2	NP_001273096.1:p.(Arg39=)	NC_000016.9:g.89882359T>G	(Likely) benign	1 lab	5f883fc1ec
X:47086592 CDK16 C>G	X	47086592	47086592	C	G	CDK16	c.1272C>G	NM_033018.3	NP_148978.2:p.(Asp424Glu)	NC_000023.10:g.47086592C>G	VUS	1 lab	5f8b67d7cc
18:7015714 LAMA1 T>C	18	7015714	7015714	T	C	LAMA1	c.3126+7A>G	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7015714T>C	(Likely) benign	1 lab	f6916160c2
9:135779811 TSC1 C>T	9	135779811	135779811	C	T	TSC1	c.2028G>A	NM_000368.4	NP_000359.1:p.(Trp676Ter)	NC_000009.11:g.135779811C>T	(Likely) pathogenic	1 lab	5f8b6e5163
2:141108377 LRP1B T>C	2	141108377	141108377	T	C	LRP1B	c.11881A>G	NM_018557.2	NP_061027.2:p.(Ser3961Gly)	NC_000002.11:g.141108377T>C	(Likely) benign	1 lab	5f8bee8164
X:103495456 ESX1 G>A	X	103495456	103495456	G	A	ESX1	c.674C>T	NM_153448.3	NP_703149.1:p.(Ala225Val)	NC_000023.10:g.103495456G>A	(Likely) benign	1 lab	5f8ca94b06
5:168098406 SLIT3 C>G	5	168098406	168098406	C	G	SLIT3	c.3945G>C	NM_001271946.1	NP_001258875.1:p.(Glu1315Asp)	NC_000005.9:g.168098406C>G	VUS	1 lab	5f8f3e9477
2:210818852 UNC80 T>A	2	210818852	210818852	T	A	UNC80	c.7117T>A	NM_032504.1	NP_115893.1:p.(Leu2373Ile)	NC_000002.11:g.210818852T>A	(Likely) benign	1 lab	5f8fe6761f
7:80286013 CD36 A>G	7	80286013	80286013	A	G	CD36	c.278A>G	NM_001001548.2	NP_001001548.1:p.(Tyr93Cys)	NC_000007.13:g.80286013A>G	VUS	1 lab	5f908b7df0
X:140786558 MISSING T>C	X	140786558	140786558	T	C	MISSING				NC_000023.10:g.140786558T>C	VUS	1 lab	5f910c56cc
16:88493976 ZNF469 C>T	16	88493976	88493976	C	T	ZNF469				NC_000016.9:g.88493976C>T	VUS	1 lab	5f91962b08
10:102689619 SLF2 A>G	10	102689619	102689619	A	G	SLF2	c.2198A>G	NM_018121.4	NP_060591.3:p.(Asp733Gly)	NC_000010.10:g.102689619A>G	VUS	1 lab	5f940c4c45
19:19309499 RFXANK G>A	19	19309499	19309499	G	A	RFXANK	c.598G>A	NM_003721.2	NP_003712.1:p.(Gly200Arg)	NC_000019.9:g.19309499G>A	VUS	1 lab	5f95fa489d
2:179647132 TTN C>G	2	179647132	179647132	C	G	TTN	c.3187G>C	NM_001267550.1	NP_001254479.1:p.(Val1063Leu)	NC_000002.11:g.179647132C>G	VUS	1 lab	5f976a58d2
16:88799728 PIEZO1 G>A	16	88799728	88799728	G	A	PIEZO1	c.2622C>T	NM_001142864.4	NP_001136336.2:p.(Leu874=)	NC_000016.9:g.88799728G>A	(Likely) benign	1 lab	5f977a2c9f
14:105413562 AHNAK2 A>G	14	105413562	105413562	A	G	AHNAK2	c.8226T>C	NM_138420.3	NP_612429.2:p.(Pro2742=)	NC_000014.8:g.105413562A>G	(Likely) benign	1 lab	5f987226e1
X:9863126 SHROOM2 C>A	X	9863126	9863126	C	A	SHROOM2	c.1178C>A	NM_001649.3	NP_001640.1:p.(Ala393Glu)	NC_000023.10:g.9863126C>A	(Likely) benign	1 lab	5f99241b8a
15:51285832 AP4E1 C>T	15	51285832	51285832	C	T	AP4E1	c.2121+10C>T	NM_001252127.1	NP_001239056.1:p.?	NC_000015.9:g.51285832C>T	(Likely) benign	1 lab	5f9c9098d1
11:1017656 MUC6 G>A	11	1017656	1017656	G	A	MUC6	c.5145C>T	NM_005961.2	NP_005952.2:p.(Thr1715=)	NC_000011.9:g.1017656G>A	(Likely) benign	1 lab	5f9e1f119c
9:135801036 TSC1 G>A	9	135801036	135801036	G	A	TSC1	c.301C>T	NM_000368.4	NP_000359.1:p.(Pro101Ser)	NC_000009.11:g.135801036G>A	VUS	1 lab	5f9e2b2ff0
1:32279581 SPOCD1 C>T	1	32279581	32279581	C	T	SPOCD1	c.1354G>A	NM_144569.5	NP_653170.3:p.(Glu452Lys)	NC_000001.10:g.32279581C>T	(Likely) benign	1 lab	5fa252fff7
18:7032182 LAMA1 G>A	18	7032182	7032182	G	A	LAMA1	c.2164-7C>T	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7032182G>A	(Likely) benign	1 lab	5fa2bb7551
10:55568572 PCDH15 A>G	10	55568572	55568572	A	G	PCDH15	c.5253T>C	NM_001142769.2	NP_001136241.1:p.(Ser1751=)	NC_000010.10:g.55568572A>G	(Likely) benign	1 lab	5fa41e68d6
11:2683258 KCNQ1 G>C	11	2683258	2683258	G	C	KCNQ1	c.1461G>C	NM_000218.2	NP_000209.2:p.(Glu487Asp)	NC_000011.9:g.2683258G>C	(Likely) benign	1 lab	5fa420b1ab
10:26986676 PDSS1 C>T	10	26986676	26986676	C	T	PDSS1	c.36C>T	NM_014317.4	NP_055132.2:p.(Cys12=)	NC_000010.10:g.26986676C>T	(Likely) benign	1 lab	5fa4c0a57d
15:40462779 BUB1B AGG>A	15	40462779	40462781	AGG	A	BUB1B	c.282_283del	NM_001211.6	NP_001202.5:p.(Ser96Ter)	NC_000015.9:g.40462780_40462781del	(Likely) pathogenic	1 lab	5fa53d623e
19:49930721 GFY T>A	19	49930721	49930721	T	A	GFY	c.1034T>A	NM_001195256.1	NP_001182185.1:p.(Val345Asp)	NC_000019.9:g.49930721T>A	VUS	1 lab	5fa9bd4a5a
12:89853443 POC1B A>G	12	89853443	89853443	A	G	POC1B	c.1085T>C	NM_172240.2	NP_758440.1:p.(Met362Thr)	NC_000012.11:g.89853443A>G	(Likely) benign	1 lab	5fad85cd41
X:152686446 ZFP92 G>A	X	152686446	152686446	G	A	ZFP92	c.611G>A	NM_001136273.1	NP_001129745.1:p.(Gly204Asp)	NC_000023.10:g.152686446G>A	VUS	1 lab	5fae179eea
6:30860118 DDR1 G>A	6	30860118	30860118	G	A	DDR1	c.898G>A	NM_001297652.1	NP_001284581.1:p.(Gly300Arg)	NC_000006.11:g.30860118G>A	VUS	1 lab	5fae9ec60e
11:78383269 TENM4 C>T	11	78383269	78383269	C	T	TENM4	c.5602G>A	NM_001098816.2	NP_001092286.2:p.(Ala1868Thr)	NC_000011.9:g.78383269C>T	VUS	1 lab	5fb02f134b
14:23884856 MYH7 C>T	14	23884856	23884856	C	T	MYH7	c.5139G>A	NM_000257.2	NP_000248.2:p.(Val1713=)	NC_000014.8:g.23884856C>T	(Likely) benign	1 lab	5fb08741a8
16:68712475 CDH3 T>G	16	68712475	68712475	T	G	CDH3	c.462T>G	NM_001317195.1	NP_001304124.1:p.(Pro154=)	NC_000016.9:g.68712475T>G	(Likely) benign	1 lab	5fb3107a2d
1:228474709 OBSCN C>T	1	228474709	228474709	C	T	OBSCN	c.10800C>T	NM_001271223.2	NP_001258152.2:p.(Gly3600=)	NC_000001.10:g.228474709C>T	(Likely) benign	1 lab	5fb33e48ba
5:150924962 FAT2 G>A	5	150924962	150924962	G	A	FAT2	c.5726C>T	NM_001447.2	NP_001438.1:p.(Thr1909Ile)	NC_000005.9:g.150924962G>A	(Likely) benign	1 lab	5fb3a837b3
22:35743090 TOM1 G>A	22	35743090	35743090	G	A	TOM1	c.1370G>A	NM_001135732.1	NP_001129204.1:p.(Arg457Gln)	NC_000022.10:g.35743090G>A	(Likely) benign	1 lab	5fb3ed6145
14:68265066 ZFYVE26 G>C	14	68265066	68265066	G	C	ZFYVE26	c.1913C>G	NM_015346.3	NP_056161.2:p.(Pro638Arg)	NC_000014.8:g.68265066G>C	(Likely) benign	1 lab	5fb535db1e
12:48374353 COL2A1 C>T	12	48374353	48374353	C	T	COL2A1	c.2609G>A	NM_001844.4	NP_001835.3:p.(Gly870Glu)	NC_000012.11:g.48374353C>T	(Likely) pathogenic	1 lab	5fb56a81fe
17:29676262 NF1 C>A	17	29676262	29676262	C	A	NF1	c.7251C>A	NM_000267.3	NP_000258.1:p.(Tyr2417Ter)	NC_000017.10:g.29676262C>A	(Likely) pathogenic	1 lab	5fb59f6920
X:125299821 DCAF12L2 C>G	X	125299821	125299821	C	G	DCAF12L2	c.87G>C	NM_001013628.2	NP_001013650.1:p.(Ala29=)	NC_000023.10:g.125299821C>G	(Likely) benign	1 lab	5fb64e3b9b
2:189858165 COL3A1 G>A	2	189858165	189858165	G	A	COL3A1	c.1129G>A	NM_000090.3	NP_000081.1:p.(Ala377Thr)	NC_000002.11:g.189858165G>A	VUS	1 lab	5fb65488a7
9:2622270 VLDLR C>A	9	2622270	2622270	C	A	VLDLR	c.81C>A	NM_003383.4	NP_003374.3:p.(Thr27=)	NC_000009.11:g.2622270C>A	(Likely) benign	1 lab	5fb7cd6153
2:202494465 TMEM237 G>A	2	202494465	202494465	G	A	TMEM237	c.640C>T	NM_152388.3	NP_689601.2:p.(His214Tyr)	NC_000002.11:g.202494465G>A	VUS	1 lab	5fb815680e
8:61654954 CHD7 ATT>A	8	61654954	61654956	ATT	A	CHD7	c.964_965del	NM_017780.4	NP_060250.2:p.(Leu322SerfsTer2)	NC_000008.10:g.61654955_61654956del	(Likely) pathogenic	1 lab	5fb82f3840
14:76201606 TTLL5 A>G	14	76201606	76201606	A	G	TTLL5	c.1255A>G	NM_015072.4	NP_055887.3:p.(Arg419Gly)	NC_000014.8:g.76201606A>G	VUS	1 lab	5fbb453b0e
13:114523955 GAS6 T>C	13	114523955	114523955	T	C	GAS6	c.1919A>G	NM_000820.3	NP_000811.1:p.(Tyr640Cys)	NC_000013.10:g.114523955T>C	VUS	1 lab	5fbb89e7c2
X:135431440 ADGRG4 C>G	X	135431440	135431440	C	G	ADGRG4	c.5575C>G	NM_153834.3	NP_722576.3:p.(Gln1859Glu)	NC_000023.10:g.135431440C>G	(Likely) benign	1 lab	5fbbca4deb
11:6415179 SMPD1 T>C	11	6415179	6415179	T	C	SMPD1	c.473T>C	NM_001318088.1	NP_001305017.1:p.(Phe158Ser)	NC_000011.9:g.6415179T>C	VUS	1 lab	5fc0fca601
16:4387338 GLIS2 C>T	16	4387338	4387338	C	T	GLIS2	c.1388C>T	NM_032575.2	NP_115964.2:p.(Thr463Met)	NC_000016.9:g.4387338C>T	VUS	1 lab	5fc2cad23d
6:31838649 SLC44A4 G>C	6	31838649	31838649	G	C	SLC44A4	c.649C>G	NM_001178045.1	NP_001171516.1:p.(Leu217Val)	NC_000006.11:g.31838649G>C	VUS	1 lab	5fc34242a6
1:228547657 OBSCN C>T	1	228547657	228547657	C	T	OBSCN	c.19064C>T	NM_052843.3	NP_443075.3:p.(Ser6355Leu)	NC_000001.10:g.228547657C>T	(Likely) benign	1 lab	5fc3964321
14:97322866 VRK1 T>C	14	97322866	97322866	T	C	VRK1	c.832T>C	NM_003384.2	NP_003375.1:p.(Tyr278His)	NC_000014.8:g.97322866T>C	VUS	1 lab	5fc4399020
13:32911415 BRCA2 A>G	13	32911415	32911415	A	G	BRCA2	c.2923A>G	NM_000059.3	NP_000050.2:p.(Ile975Val)	NC_000013.10:g.32911415A>G	(Likely) benign	1 lab	5fc4745306
16:81095428 C16orf46 C>T	16	81095428	81095428	C	T	C16orf46	c.526G>A	NM_001100873.1	NP_001094343.1:p.(Ala176Thr)	NC_000016.9:g.81095428C>T	(Likely) benign	1 lab	5fc4c94d3f
16:2120533 TSC2 A>G	16	2120533	2120533	A	G	TSC2	c.1793A>G	NM_000548.3	NP_000539.2:p.(Tyr598Cys)	NC_000016.9:g.2120533A>G	(Likely) pathogenic	1 lab	5fc54c2931
12:53822734 AMHR2 C>T	12	53822734	53822734	C	T	AMHR2	c.907C>T	NM_020547.3	NP_065434.1:p.(Arg303Trp)	NC_000012.11:g.53822734C>T	VUS	1 lab	5fc9be9f6c
22:21351072 LZTR1 G>A	22	21351072	21351072	G	A	LZTR1	c.2307G>A	NM_006767.4	NP_006758.2:p.(Thr769=)	NC_000022.10:g.21351072G>A	(Likely) benign	1 lab	f385a87abd
19:3976714 EEF2 G>A	19	3976714	3976714	G	A	EEF2	c.2415C>T	NM_001961.3	NP_001952.1:p.(Gly805=)	NC_000019.9:g.3976714G>A	(Likely) benign	1 lab	5fc9f61047
19:8210720 FBN3 TACTC>T	19	8210720	8210726	TACTC	T	FBN3	c.445+3_445+6del	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8210723_8210726del	VUS	1 lab	5fcce3167b
22:32266565 DEPDC5 AT>A	22	32266565	32266566	AT	A	DEPDC5	c.3331-10del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32266566del	(Likely) benign	1 lab	5fce1691af
12:49434383 KMT2D C>T	12	49434383	49434383	C	T	KMT2D	c.7170G>A	NM_003482.3	NP_003473.3:p.(Pro2390=)	NC_000012.11:g.49434383C>T	(Likely) benign	1 lab	5fcea48718
7:75959005 YWHAG G>A	7	75959005	75959005	G	A	YWHAG	c.633C>T	NM_012479.4	NP_036611.2:p.(Leu211=)	NC_000007.13:g.75959005G>A	(Likely) benign	1 lab	5fcf63c7ec
3:38627263 SCN5A G>A	3	38627263	38627263	G	A	SCN5A	c.2706C>T	NM_001099404.1	NP_001092874.1:p.(Thr902=)	NC_000003.11:g.38627263G>A	(Likely) benign	1 lab	5fd1dcc94d
9:123163169 CDK5RAP2 C>A	9	123163169	123163169	C	A	CDK5RAP2	c.5308-6G>T	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123163169C>A	(Likely) benign	1 lab	5fd33a50a5
17:7124874 ACADVL G>A	17	7124874	7124874	G	A	ACADVL	c.267G>A	NM_001270448.1	NP_001257377.1:p.(Glu89=)	NC_000017.10:g.7124874G>A	(Likely) benign	1 lab	5fd43e9415
22:24451534 CABIN1 C>T	22	24451534	24451534	C	T	CABIN1	c.1005C>T	NM_001199281.1	NP_001186210.1:p.(Val335=)	NC_000022.10:g.24451534C>T	(Likely) benign	1 lab	5fd5782969
4:435611 ZNF721 G>A	4	435611	435611	G	A	ZNF721	c.2645C>T	NM_133474.4	NP_597731.2:p.(Ala882Val)	NC_000004.11:g.435611G>A	(Likely) benign	1 lab	5fd7507abd
14:23859329 MYH6 C>T	14	23859329	23859329	C	T	MYH6	c.3669G>A	NM_002471.3	NP_002462.2:p.(Lys1223=)	NC_000014.8:g.23859329C>T	(Likely) benign	1 lab	5fd771eac8
19:48637277 LIG1 C>T	19	48637277	48637277	C	T	LIG1	c.1567G>A	NM_001320970.1	NP_001307899.1:p.(Gly523Ser)	NC_000019.9:g.48637277C>T	VUS	1 lab	5fd9412129
10:73573112 CDH23 G>C	10	73573112	73573112	G	C	CDH23	c.9738+7G>C	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73573112G>C	(Likely) benign	1 lab	5fda774196
10:112581069 RBM20 G>A	10	112581069	112581069	G	A	RBM20	c.2692G>A	NM_001134363.3	NP_001127835.2:p.(Glu898Lys)	NC_000010.10:g.112581069G>A	VUS	1 lab	f38b28dde3
13:111156234 COL4A2 C>T	13	111156234	111156234	C	T	COL4A2	c.4179C>T	NM_001846.3	NP_001837.2:p.(Ile1393=)	NC_000013.10:g.111156234C>T	(Likely) benign	1 lab	5fdbffd92f
2:206921270 INO80D G>A	2	206921270	206921270	G	A	INO80D	c.616C>T	NM_017759.5	NP_060229.3:p.(Pro206Ser)	NC_000002.11:g.206921270G>A	(Likely) benign	1 lab	5fdce9cd96
X:39932728 BCOR G>A	X	39932728	39932728	G	A	BCOR	c.1871C>T	NM_001123385.1	NP_001116857.1:p.(Pro624Leu)	NC_000023.10:g.39932728G>A	VUS	1 lab	5fdd495078
11:6638351 TPP1 G>A	11	6638351	6638351	G	A	TPP1	c.542C>T	NM_000391.3	NP_000382.3:p.(Ser181Phe)	NC_000011.9:g.6638351G>A	VUS	1 lab	5fdd5506ba
17:37871714 ERBB2 C>T	17	37871714	37871714	C	T	ERBB2	c.1193C>T	NM_001289936.1	NP_001276865.1:p.(Ser398Leu)	NC_000017.10:g.37871714C>T	VUS	1 lab	5fde34fc09
10:72358641 PRF1 C>T	10	72358641	72358641	C	T	PRF1	c.836G>A	NM_001083116.1	NP_001076585.1:p.(Cys279Tyr)	NC_000010.10:g.72358641C>T	VUS	1 lab	5fde4f32cd
4:114290892 ANK2 A>G	4	114290892	114290892	A	G	ANK2	c.11541A>G	NM_001148.4	NP_001139.3:p.(Val3847=)	NC_000004.11:g.114290892A>G	(Likely) benign	1 lab	5fdf2d4c94
12:22078880 ABCC9 A>G	12	22078880	22078880	A	G	ABCC9	c.402T>C	NM_020297.2	NP_064693.2:p.(Leu134=)	NC_000012.11:g.22078880A>G	(Likely) benign	1 lab	5fe1a690a2
22:36657628 APOL1 T>G	22	36657628	36657628	T	G	APOL1	c.236-14T>G	NM_145343.2	NP_663318.1:p.?	NC_000022.10:g.36657628T>G	(Likely) benign	1 lab	f38cadec14
18:7032082 LAMA1 C>T	18	7032082	7032082	C	T	LAMA1	c.2257G>A	NM_005559.3	NP_005550.2:p.(Val753Ile)	NC_000018.9:g.7032082C>T	(Likely) benign	1 lab	5fe1ae3f22
20:62321558 RTEL1 C>T	20	62321558	62321558	C	T	RTEL1	c.2260C>T	NM_001283009.1	NP_001269938.1:p.(Arg754Ter)	NC_000020.10:g.62321558C>T	(Likely) pathogenic	1 lab	5fe286dc6c
1:228434477 OBSCN C>T	1	228434477	228434477	C	T	OBSCN	c.4282C>T	NM_001271223.2	NP_001258152.2:p.(Arg1428Trp)	NC_000001.10:g.228434477C>T	(Likely) benign	1 lab	5fe2ee6df4
11:66469062 SPTBN2 T>C	11	66469062	66469062	T	C	SPTBN2	c.2809A>G	NM_006946.3	NP_008877.1:p.(Asn937Asp)	NC_000011.9:g.66469062T>C	VUS	1 lab	5fe2f57548
20:47587741 ARFGEF2 C>T	20	47587741	47587741	C	T	ARFGEF2	c.1275C>T	NM_006420.2	NP_006411.2:p.(His425=)	NC_000020.10:g.47587741C>T	(Likely) benign	1 lab	5fe3fbfa2e
17:7125591 DLG4 T>C	17	7125591	7125591	T	C	DLG4				NC_000017.10:g.7125591T>C	(Likely) pathogenic	1 lab	f6a9c4673a
7:100404997 EPHB4 G>A	7	100404997	100404997	G	A	EPHB4	c.2324C>T	NM_004444.5	NP_004435.3:p.(Thr775Met)	NC_000007.13:g.100404997G>A	(Likely) benign	1 lab	f38ccceee4
X:153453437 OPN1MW C>T	X	153453437	153453437	C	T	OPN1MW	c.291C>T	NM_000513.2	NP_000504.1:p.(Val97=)	NC_000023.10:g.153453437C>T	(Likely) benign	1 lab	5fe4963bb1
X:2779702 GYG2 C>T	X	2779702	2779702	C	T	GYG2	c.1070C>T	NM_003918.2	NP_003909.2:p.(Pro357Leu)	NC_000023.10:g.2779702C>T	(Likely) benign	1 lab	5fe7c44ccf
10:21097515 NEBL G>A	10	21097515	21097515	G	A	NEBL	c.2685C>T	NM_006393.2	NP_006384.1:p.(Asp895=)	NC_000010.10:g.21097515G>A	(Likely) benign	1 lab	5fe8753985
14:64488739 SYNE2 A>T	14	64488739	64488739	A	T	SYNE2	c.5517A>T	NM_182914.2	NP_878918.2:p.(Leu1839Phe)	NC_000014.8:g.64488739A>T	(Likely) benign	1 lab	5fe915f60d
2:47177568 TTC7A A>G	2	47177568	47177568	A	G	TTC7A	c.251A>G	NM_001288951.1	NP_001275880.1:p.(Lys84Arg)	NC_000002.11:g.47177568A>G	(Likely) benign	1 lab	5fec2da475
8:38103341 DDHD2 C>T	8	38103341	38103341	C	T	DDHD2	c.930C>T	NM_015214.2	NP_056029.2:p.(Tyr310=)	NC_000008.10:g.38103341C>T	(Likely) benign	1 lab	5fecf3a1cb
X:49111955 FOXP3 CCTT>C	X	49111955	49111960	CCTT	C	FOXP3	c.748_750del	NM_014009.4	NP_054728.2:p.(Lys250del)	NC_000023.10:g.49111958_49111960del	(Likely) pathogenic	1 lab	5fed49a5b3
20:25371222 ABHD12 G>C	20	25371222	25371222	G	C	ABHD12	c.118C>G	NM_001042472.3	NP_001035937.1:p.(Leu40Val)	NC_000020.10:g.25371222G>C	VUS	1 lab	5fed6381c9
2:96578166 MISSING G>C	2	96578166	96578166	G	C	MISSING				NC_000002.11:g.96578166G>C	VUS	1 lab	5feeff65cd
11:597015 PHRF1 C>T	11	597015	597015	C	T	PHRF1	c.713C>T	NM_001286581.2	NP_001273510.1:p.(Ala238Val)	NC_000011.9:g.597015C>T	(Likely) benign	1 lab	5ff06968ac
18:44068950 LOXHD1 C>T	18	44068950	44068950	C	T	LOXHD1	c.5848G>A	NM_144612.6	NP_653213.6:p.(Glu1950Lys)	NC_000018.9:g.44068950C>T	(Likely) benign	1 lab	5ff35f4eb7
2:233387234 PRSS56 T>G	2	233387234	233387234	T	G	PRSS56	c.456T>G	NM_001195129.1	NP_001182058.1:p.(Asn152Lys)	NC_000002.11:g.233387234T>G	VUS	1 lab	5ff3688bf6
1:110302451 EPS8L3 A>T	1	110302451	110302451	A	T	EPS8L3	c.2T>A	NM_001319952.2	NP_001306881.1:p.(Met1?)	NC_000001.10:g.110302451A>T	VUS	1 lab	f38d72b357
1:197108992 ASPM A>T	1	197108992	197108992	A	T	ASPM	c.1931T>A	NM_018136.4	NP_060606.3:p.(Ile644Lys)	NC_000001.10:g.197108992A>T	(Likely) benign	1 lab	5ff5caf74f
8:48848933 PRKDC C>T	8	48848933	48848933	C	T	PRKDC	c.1258G>A	NM_006904.6	NP_008835.5:p.(Val420Ile)	NC_000008.10:g.48848933C>T	(Likely) benign	1 lab	5ff6a3d755
19:5208309 PTPRS C>T	19	5208309	5208309	C	T	PTPRS	c.5581G>A	NM_002850.3	NP_002841.3:p.(Gly1861Ser)	NC_000019.9:g.5208309C>T	VUS	1 lab	5ff7678ee4
17:29587487 NF1 C>T	17	29587487	29587487	C	T	NF1	c.4468C>T	NM_000267.3	NP_000258.1:p.(Leu1490Phe)	NC_000017.10:g.29587487C>T	VUS	1 lab	5ff9ad9b02
15:100591842 ADAMTS17 G>A	15	100591842	100591842	G	A	ADAMTS17	c.2390C>T	NM_139057.3	NP_620688.2:p.(Pro797Leu)	NC_000015.9:g.100591842G>A	VUS	1 lab	5ffa48a215
2:239237944 TRAF3IP1 C>T	2	239237944	239237944	C	T	TRAF3IP1	c.876C>T	NM_015650.3	NP_056465.2:p.(Asp292=)	NC_000002.11:g.239237944C>T	(Likely) benign	1 lab	5ffa825919
22:51159820 MISSING T>A	22	51159820	51159820	T	A	MISSING				NC_000022.10:g.51159820T>A	VUS	1 lab	5ffab018ac
X:129480581 SLC25A14 G>A	X	129480581	129480581	G	A	SLC25A14	c.224G>A	NM_001282197.1	NP_001269126.1:p.(Arg75His)	NC_000023.10:g.129480581G>A	(Likely) benign	1 lab	5ffbba1311
X:49029758 PLP2 G>A	X	49029758	49029758	G	A	PLP2	c.273G>A	NM_002668.2	NP_002659.1:p.(Ala91=)	NC_000023.10:g.49029758G>A	(Likely) benign	1 lab	5ffccca8ff
7:142641725 KEL C>T	7	142641725	142641725	C	T	KEL	c.1413+5G>A	NM_000420.3	NP_000411.1:p.?	NC_000007.13:g.142641725C>T	(Likely) benign	1 lab	f38fa85115
1:9099912 SLC2A5 G>A	1	9099912	9099912	G	A	SLC2A5	c.832C>T	NM_003039.2	NP_003030.1:p.(Leu278=)	NC_000001.10:g.9099912G>A	(Likely) benign	1 lab	5ffdc0e363
18:77748659 TXNL4A G>A	18	77748659	77748659	G	A	TXNL4A				NC_000018.9:g.77748659G>A	(Likely) benign	1 lab	5fff3f7f87
1:156106017 LMNA C>T	1	156106017	156106017	C	T	LMNA				NC_000001.10:g.156106017C>T	(Likely) benign	1 lab	663135358b
9:133730285 ABL1 G>A	9	133730285	133730285	G	A	ABL1	c.408G>A	NM_007313.2	NP_009297.2:p.(Thr136=)	NC_000009.11:g.133730285G>A	(Likely) benign	1 lab	600091a0c7
18:5489054 EPB41L3 C>A	18	5489054	5489054	C	A	EPB41L3	c.129G>T	NM_012307.3	NP_036439.2:p.(Gln43His)	NC_000018.9:g.5489054C>A	(Likely) benign	1 lab	60031f18c4
6:144507985 STX11 C>T	6	144507985	144507985	C	T	STX11	c.221C>T	NM_003764.3	NP_003755.2:p.(Thr74Met)	NC_000006.11:g.144507985C>T	VUS	1 lab	60066f50e8
2:39224156 SOS1 C>T	2	39224156	39224156	C	T	SOS1	c.2988G>A	NM_005633.3	NP_005624.2:p.(Pro996=)	NC_000002.11:g.39224156C>T	(Likely) benign	1 lab	6008aa5cc2
16:88793562 PIEZO1 G>C	16	88793562	88793562	G	C	PIEZO1	c.3340C>G	NM_001142864.4	NP_001136336.2:p.(Gln1114Glu)	NC_000016.9:g.88793562G>C	VUS	1 lab	600baf78af
15:55497852 RAB27A TGCTTG>T	15	55497852	55497861	TGCTTG	T	RAB27A	c.514_518del	NM_183235.3	NP_899058.1:p.(Gln172AsnfsTer2)	NC_000015.9:g.55497857_55497861del	(Likely) pathogenic	1 lab	600e5479f9
X:1404797 CSF2RA G>A	X	1404797	1404797	G	A	CSF2RA	c.203G>A	NM_001161529.1	NP_001155001.1:p.(Arg68Lys)	NC_000023.10:g.1404797G>A	(Likely) benign	1 lab	600ece4238
10:95930975 PLCE1 C>T	10	95930975	95930975	C	T	PLCE1	c.1531C>T	NM_016341.3	NP_057425.3:p.(Leu511Phe)	NC_000010.10:g.95930975C>T	VUS	1 lab	600f9960d2
6:32797847 TAP2 T>C	6	32797847	32797847	T	C	TAP2	c.1655A>G	NM_001290043.1	NP_001276972.1:p.(Glu552Gly)	NC_000006.11:g.32797847T>C	VUS	1 lab	60103d7a60
19:16268207 HSH2D TA>T	19	16268207	16268213	TA	T	HSH2D	c.667_668=	NM_001382417.1	NP_001369346.1:p.(Ser223=)	NC_000019.9:g.16268213del	(Likely) benign	1 lab	6010cdbeb4
10:7842041 ATP5F1C C>T	10	7842041	7842041	C	T	ATP5F1C	c.624C>T	NM_001001973.3	NP_001001973.1:p.(Thr208=)	NC_000010.10:g.7842041C>T	(Likely) benign	1 lab	6011fd00c3
15:73614973 HCN4 C>T	15	73614973	73614973	C	T	HCN4	c.3461G>A	NM_005477.2	NP_005468.1:p.(Arg1154Gln)	NC_000015.9:g.73614973C>T	VUS	1 lab	6012221a02
22:42071030 SNU13 A>G	22	42071030	42071030	A	G	SNU13	c.294T>C	NM_005008.3	NP_004999.1:p.(Pro98=)	NC_000022.10:g.42071030A>G	(Likely) benign	1 lab	60123cd95f
18:57134093 CCBE1 G>A	18	57134093	57134093	G	A	CCBE1	c.431C>T	NM_133459.4	NP_597716.1:p.(Thr144Met)	NC_000018.9:g.57134093G>A	VUS	1 lab	601383b959
2:179481498 TTN G>T	2	179481498	179481498	G	T	TTN	c.48118C>A	NM_001267550.1	NP_001254479.1:p.(Arg16040Ser)	NC_000002.11:g.179481498G>T	VUS	1 lab	6013e60908
1:40771827 COL9A2 G>A	1	40771827	40771827	G	A	COL9A2	c.1041C>T	NM_001852.4	NP_001843.1:p.(Gly347=)	NC_000001.10:g.40771827G>A	(Likely) benign	1 lab	60154d9acb
5:56179341 MAP3K1 G>A	5	56179341	56179341	G	A	MAP3K1	c.3667-13G>A	NM_005921.1	NP_005912.1:p.?	NC_000005.9:g.56179341G>A	(Likely) benign	1 lab	60157d3946
6:152694259 SYNE1 C>T	6	152694259	152694259	C	T	SYNE1	c.9420G>A	NM_182961.3	NP_892006.3:p.(Ala3140=)	NC_000006.11:g.152694259C>T	(Likely) benign	1 lab	6016aba03a
X:101858458 ARMCX5 C>A	X	101858458	101858458	C	A	ARMCX5	c.1389C>A	NM_001168479.1	NP_001161951.1:p.(His463Gln)	NC_000023.10:g.101858458C>A	(Likely) benign	1 lab	6017595e35
16:57935455 CNGB1 C>T	16	57935455	57935455	C	T	CNGB1	c.2869G>A	NM_001297.4	NP_001288.3:p.(Val957Ile)	NC_000016.9:g.57935455C>T	VUS	1 lab	6018b997f2
12:64062052 DPY19L2 G>A	12	64062052	64062052	G	A	DPY19L2	c.122C>T	NM_173812.5	NP_776173.3:p.(Ala41Val)	NC_000012.11:g.64062052G>A	(Likely) benign	1 lab	f398053730
3:15259072 CAPN7 G>A	3	15259072	15259072	G	A	CAPN7	c.352G>A	NM_014296.3	NP_055111.1:p.(Asp118Asn)	NC_000003.11:g.15259072G>A	VUS	1 lab	601a24fd6f
2:39283961 SOS1 A>G	2	39283961	39283961	A	G	SOS1	c.392T>C	NM_005633.4	NP_005624.2:p.(Val131Ala)	NC_000002.11:g.39283961A>G	VUS	1 lab	f39a27464d
9:2643717 VLDLR G>T	9	2643717	2643717	G	T	VLDLR	c.910G>T	NM_003383.4	NP_003374.3:p.(Val304Phe)	NC_000009.11:g.2643717G>T	(Likely) benign	1 lab	601bf69c8f
17:29670074 NF1 C>CTGCAA	17	29670074	29670079	C	CTGCAA	NF1	c.7048_7052dup	NM_000267.3	NP_000258.1:p.(Lys2351AsnfsTer26)	NC_000017.10:g.29670075_29670079dup	(Likely) pathogenic	1 lab	601db5d80a
6:34857183 ANKS1A G>C	6	34857183	34857183	G	C	ANKS1A	c.4G>C	NM_015245.3	NP_056060.2:p.(Gly2Arg)	NC_000006.11:g.34857183G>C	VUS	1 lab	601ea53e01
5:126147547 LMNB1 G>T	5	126147547	126147547	G	T	LMNB1	c.896G>T	NM_005573.3	NP_005564.1:p.(Arg299Ile)	NC_000005.9:g.126147547G>T	VUS	1 lab	601ee1e980
5:127599209 FBN2 C>T	5	127599209	127599209	C	T	FBN2	c.8100G>A	NM_001999.3	NP_001990.2:p.(Ser2700=)	NC_000005.9:g.127599209C>T	(Likely) benign	1 lab	6020cb654a
12:6463975 SCNN1A T>G	12	6463975	6463975	T	G	SCNN1A	c.1360A>C	NM_001159576.1	NP_001153048.1:p.(Thr454Pro)	NC_000012.11:g.6463975T>G	VUS	1 lab	6027a6640b
20:62292656 RTEL1 G>C	20	62292656	62292656	G	C	RTEL1	c.108G>C	NM_001283009.1	NP_001269938.1:p.(Val36=)	NC_000020.10:g.62292656G>C	(Likely) benign	1 lab	6028877062
X:17745017 NHS G>T	X	17745017	17745017	G	T	NHS	c.2791G>T	NM_001291867.1	NP_001278796.1:p.(Asp931Tyr)	NC_000023.10:g.17745017G>T	(Likely) benign	1 lab	60289e4c44
X:149638883 MAMLD1 A>T	X	149638883	149638883	A	T	MAMLD1	c.1038A>T	NM_005491.4	NP_005482.2:p.(Pro346=)	NC_000023.10:g.149638883A>T	(Likely) benign	1 lab	6029372eca
7:94037526 COL1A2 G>A	7	94037526	94037526	G	A	COL1A2	c.671G>A	NM_000089.3	NP_000080.2:p.(Arg224His)	NC_000007.13:g.94037526G>A	VUS	1 lab	6029b202ad
9:13140070 MPDZ C>T	9	13140070	13140070	C	T	MPDZ	c.3919G>A	NM_001330637.1	NP_001317566.1:p.(Glu1307Lys)	NC_000009.11:g.13140070C>T	(Likely) benign	1 lab	6029f21b69
1:2337930 PEX10 C>T	1	2337930	2337930	C	T	PEX10	c.965G>A	NM_153818.1	NP_722540.1:p.(Ser322Asn)	NC_000001.10:g.2337930C>T	(Likely) benign	1 lab	602a11498e
5:54522929 MCIDAS G>T	5	54522929	54522929	G	T	MCIDAS	c.38C>A	NM_001190787.1	NP_001177716.1:p.(Ala13Asp)	NC_000005.9:g.54522929G>T	VUS	1 lab	602abcb6bc
2:211441167 CPS1 C>T	2	211441167	211441167	C	T	CPS1	c.334C>T	NM_001875.4	NP_001866.2:p.(Leu112=)	NC_000002.11:g.211441167C>T	(Likely) benign	1 lab	602b5e9196
3:4722294 ITPR1 C>G	3	4722294	4722294	C	G	ITPR1	c.2980C>G	NM_001168272.1	NP_001161744.1:p.(Arg994Gly)	NC_000003.11:g.4722294C>G	VUS	1 lab	602bd1b43e
9:103046797 INVS A>G	9	103046797	103046797	A	G	INVS	c.1980A>G	NM_014425.4	NP_055240.2:p.(Gly660=)	NC_000009.11:g.103046797A>G	(Likely) benign	1 lab	602d1269b9
17:18027844 MYO15A C>T	17	18027844	18027844	C	T	MYO15A	c.3657C>T	NM_016239.3	NP_057323.3:p.(His1219=)	NC_000017.10:g.18027844C>T	(Likely) benign	1 lab	602d86bb9b
1:115229523 AMPD1 C>T	1	115229523	115229523	C	T	AMPD1	c.323G>A	NM_000036.2	NP_000027.2:p.(Arg108His)	NC_000001.10:g.115229523C>T	(Likely) benign	1 lab	602da913de
20:10630922 JAG1 G>A	20	10630922	10630922	G	A	JAG1	c.1207C>T	NM_000214.3	NP_000205.1:p.(Gln403Ter)	NC_000020.10:g.10630922G>A	(Likely) pathogenic	1 lab	602e2c2f65
3:127318154 MCM2 C>A	3	127318154	127318154	C	A	MCM2	c.7-7C>A	NM_004526.3	NP_004517.2:p.?	NC_000003.11:g.127318154C>A	(Likely) benign	1 lab	602ff54d8b
3:14190170 XPC C>T	3	14190170	14190170	C	T	XPC	c.2312G>A	NM_004628.4	NP_004619.3:p.(Cys771Tyr)	NC_000003.11:g.14190170C>T	VUS	1 lab	60305b33e1
5:111071125 NREP A>C	5	111071125	111071125	A	C	NREP	c.81+2T>G	NM_001142483.1	NP_001135955.1:p.?	NC_000005.9:g.111071125A>C	VUS	1 lab	6030aa2920
12:132539679 EP400 G>A	12	132539679	132539679	G	A	EP400	c.7810G>A	NM_015409.4	NP_056224.3:p.(Ala2604Thr)	NC_000012.11:g.132539679G>A	VUS	1 lab	603235129e
19:4202055 ANKRD24 G>A	19	4202055	4202055	G	A	ANKRD24	c.376G>A	NM_133475.1	NP_597732.1:p.(Gly126Arg)	NC_000019.9:g.4202055G>A	VUS	1 lab	60341d4b68
16:2131692 TSC2 T>C	16	2131692	2131692	T	C	TSC2	c.3707T>C	NM_000548.3	NP_000539.2:p.(Met1236Thr)	NC_000016.9:g.2131692T>C	(Likely) benign	1 lab	603570456a
1:197057390 ASPM G>A	1	197057390	197057390	G	A	ASPM	c.10157C>T	NM_018136.4	NP_060606.3:p.(Ala3386Val)	NC_000001.10:g.197057390G>A	VUS	1 lab	6035d52a36
2:179438897 TTN C>T	2	179438897	179438897	C	T	TTN	c.71962G>A	NM_001267550.2	NP_001254479.2:p.(Gly23988Ser)	NC_000002.11:g.179438897C>T	VUS	1 lab	f39e792e22
X:73962077 NEXMIF C>T	X	73962077	73962077	C	T	NEXMIF	c.2315G>A	NM_001008537.2	NP_001008537.1:p.(Arg772His)	NC_000023.10:g.73962077C>T	(Likely) benign	1 lab	60372acb51
5:118835238 HSD17B4 A>G	5	118835238	118835238	A	G	HSD17B4	c.1274A>G	NM_001199291.2	NP_001186220.1:p.(Asn425Ser)	NC_000005.9:g.118835238A>G	(Likely) benign	1 lab	60385e77e1
6:133789737 EYA4 C>A	6	133789737	133789737	C	A	EYA4	c.838C>A	NM_004100.4	NP_004091.3:p.(Gln280Lys)	NC_000006.11:g.133789737C>A	VUS	1 lab	6038fa5637
7:100193281 FBXO24 C>T	7	100193281	100193281	C	T	FBXO24	c.1158C>T	NM_033506.3	NP_277041.1:p.(Tyr386=)	NC_000007.13:g.100193281C>T	(Likely) benign	1 lab	60391bacf9
7:82584895 PCLO G>C	7	82584895	82584895	G	C	PCLO	c.5374C>G	NM_033026.5	NP_149015.2:p.(Gln1792Glu)	NC_000007.13:g.82584895G>C	VUS	1 lab	603a51b060
16:2112600 TSC2 AG>A	16	2112600	2112602	AG	A	TSC2	c.1361+1del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112602del	(Likely) pathogenic	1 lab	603b94bc70
2:179432965 TTN A>G	2	179432965	179432965	A	G	TTN	c.77894T>C	NM_001267550.1	NP_001254479.1:p.(Ile25965Thr)	NC_000002.11:g.179432965A>G	VUS	1 lab	603ba0cf12
16:77356336 ADAMTS18 T>A	16	77356336	77356336	T	A	ADAMTS18	c.1544A>T	NM_001326358.1	NP_001313287.1:p.(Lys515Met)	NC_000016.9:g.77356336T>A	VUS	1 lab	603e101b2f
17:29556157 NF1 G>GGCT	17	29556157	29556160	G	GGCT	NF1	c.2525_2527dup	NM_000267.3	NP_000258.1:p.(Gly842_Phe843insCys)	NC_000017.10:g.29556158_29556160dup	VUS	1 lab	603e4f4a6f
11:4091374 STIM1 G>T	11	4091374	4091374	G	T	STIM1	c.732G>T	NM_001277961.1	NP_001264890.1:p.(Met244Ile)	NC_000011.9:g.4091374G>T	VUS	1 lab	603eef33b9
2:179411970 TTN G>T	2	179411970	179411970	G	T	TTN	c.94282C>A	NM_001267550.1	NP_001254479.1:p.(Arg31428Ser)	NC_000002.11:g.179411970G>T	(Likely) benign	1 lab	603f38da45
11:6554986 DNHD1 C>T	11	6554986	6554986	C	T	DNHD1	c.2581C>T	NM_144666.2	NP_653267.2:p.(Arg861Cys)	NC_000011.9:g.6554986C>T	VUS	1 lab	603f38e8a3
2:179511282 TTN A>G	2	179511282	179511282	A	G	TTN	c.40227T>C	NM_001267550.1	NP_001254479.1:p.(Arg13409=)	NC_000002.11:g.179511282A>G	(Likely) benign	1 lab	6040f721f8
X:22108573 PHEX C>T	X	22108573	22108573	C	T	PHEX	c.690C>T	NM_000444.5	NP_000435.3:p.(Ala230=)	NC_000023.10:g.22108573C>T	(Likely) benign	1 lab	60417d175b
X:3631245 PRKX C>T	X	3631245	3631245	C	T	PRKX	c.50G>A	NM_005044.4	NP_005035.1:p.(Arg17His)	NC_000023.10:g.3631245C>T	(Likely) benign	1 lab	6041ae72c4
8:145006859 PLEC G>A	8	145006859	145006859	G	A	PLEC	c.1840C>T	NM_000445.5	NP_000436.2:p.(Arg614Trp)	NC_000008.10:g.145006859G>A	VUS	1 lab	f3a14f5892
X:44120511 EFHC2 G>A	X	44120511	44120511	G	A	EFHC2	c.416C>T	NM_025184.3	NP_079460.2:p.(Pro139Leu)	NC_000023.10:g.44120511G>A	VUS	1 lab	60424b361e
9:139311672 PMPCA G>A	9	139311672	139311672	G	A	PMPCA	c.897+6G>A	NM_015160.2	NP_055975.1:p.?	NC_000009.11:g.139311672G>A	(Likely) benign	1 lab	60425722f3
22:40081984 CACNA1I G>A	22	40081984	40081984	G	A	CACNA1I	c.6246G>A	NM_021096.4	NP_066919.2:p.(Ala2082=)	NC_000022.10:g.40081984G>A	(Likely) benign	1 lab	f3a22b5338
2:173337570 ITGA6 CG>C	2	173337570	173337573	CG	C	ITGA6	c.776-1210del	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173337573del	(Likely) pathogenic	1 lab	6043ca1fca
13:25480616 CPAP T>A	13	25480616	25480616	T	A	CPAP	c.1560A>T	NM_018451.4	NP_060921.3:p.(Thr520=)	NC_000013.10:g.25480616T>A	(Likely) benign	1 lab	604617ef3f
16:15835446 MYH11 C>T	16	15835446	15835446	C	T	MYH11	c.2754G>A	NM_001040113.1	NP_001035202.1:p.(Val918=)	NC_000016.9:g.15835446C>T	(Likely) benign	1 lab	6047d11f52
9:134390832 POMT1 C>T	9	134390832	134390832	C	T	POMT1	c.1261C>T	NM_007171.3	NP_009102.3:p.(Leu421=)	NC_000009.11:g.134390832C>T	(Likely) benign	1 lab	6047feb2fe
5:140961935 DIAPH1 C>T	5	140961935	140961935	C	T	DIAPH1	c.628G>A	NM_001314007.1	NP_001300936.1:p.(Asp210Asn)	NC_000005.9:g.140961935C>T	(Likely) benign	1 lab	60483cf228
10:90703570 ACTA2 C>T	10	90703570	90703570	C	T	ACTA2	c.353G>A	NM_001141945.1	NP_001135417.1:p.(Arg118Gln)	NC_000010.10:g.90703570C>T	(Likely) pathogenic	1 lab	604ae6d1a3
X:153594803 FLNA CT>C	X	153594803	153594805	CT	C	FLNA	c.1100del	NM_001110556.2	NP_001104026.1:p.(Lys367ArgfsTer18)	NC_000023.10:g.153594805del	(Likely) pathogenic	1 lab	604c501211
20:25319898 ABHD12 G>A	20	25319898	25319898	G	A	ABHD12	c.281C>T	NM_001042472.3	NP_001035937.1:p.(Pro94Leu)	NC_000020.10:g.25319898G>A	VUS	1 lab	604c53ee5c
X:119243165 RHOXF1 G>A	X	119243165	119243165	G	A	RHOXF1	c.540C>T	NM_139282.2	NP_644811.1:p.(Tyr180=)	NC_000023.10:g.119243165G>A	(Likely) benign	1 lab	604d384336
21:44476993 CBS C>T	21	44476993	44476993	C	T	CBS	c.1157G>A	NM_001321072.1	NP_001308001.1:p.(Arg386His)	NC_000021.8:g.44476993C>T	VUS	1 lab	604e366814
X:103499113 ESX1 A>G	X	103499113	103499113	A	G	ESX1	c.228T>C	NM_153448.3	NP_703149.1:p.(Gly76=)	NC_000023.10:g.103499113A>G	(Likely) benign	1 lab	604f3f8803
13:32953877 BRCA2 C>A	13	32953877	32953877	C	A	BRCA2	c.8954-10C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953877C>A	VUS	1 lab	605041a73d
19:41209688 COQ8B C>T	19	41209688	41209688	C	T	COQ8B	c.649G>A	NM_024876.3	NP_079152.3:p.(Ala217Thr)	NC_000019.9:g.41209688C>T	VUS	1 lab	60507b3fd5
5:149749092 TCOF1 G>A	5	149749092	149749092	G	A	TCOF1	c.566G>A	NM_001135243.1	NP_001128715.1:p.(Gly189Glu)	NC_000005.9:g.149749092G>A	VUS	1 lab	60518364e9
2:179587151 TTN C>T	2	179587151	179587151	C	T	TTN	c.22363G>A	NM_001267550.1	NP_001254479.1:p.(Asp7455Asn)	NC_000002.11:g.179587151C>T	VUS	1 lab	60539488fa
22:51009459 CPT1B C>T	22	51009459	51009459	C	T	CPT1B	c.1889G>A	NM_152245.2	NP_689451.1:p.(Arg630Gln)	NC_000022.10:g.51009459C>T	(Likely) benign	1 lab	6053cd413a
3:142281428 ATR T>C	3	142281428	142281428	T	C	ATR	c.816A>G	NM_001184.3	NP_001175.2:p.(Ser272=)	NC_000003.11:g.142281428T>C	(Likely) benign	1 lab	6055af6dd4
5:127595490 FBN2 A>G	5	127595490	127595490	A	G	FBN2	c.8396T>C	NM_001999.3	NP_001990.2:p.(Met2799Thr)	NC_000005.9:g.127595490A>G	VUS	1 lab	6056776630
11:124791185 HEPACAM C>T	11	124791185	124791185	C	T	HEPACAM	c.1100G>A	NM_152722.4	NP_689935.2:p.(Arg367His)	NC_000011.9:g.124791185C>T	VUS	1 lab	6056ca544c
9:114986236 PTBP3 T>C	9	114986236	114986236	T	C	PTBP3	c.1572A>G	NM_001244898.1	NP_001231827.1:p.(Gln524=)	NC_000009.11:g.114986236T>C	(Likely) benign	1 lab	60574d40bd
20:3214843 SLC4A11 G>A	20	3214843	3214843	G	A	SLC4A11	c.538C>T	NM_001174090.1	NP_001167561.1:p.(Arg180Trp)	NC_000020.10:g.3214843G>A	VUS	1 lab	6059178e2b
8:10469675 RP1L1 C>A	8	10469675	10469675	C	A	RP1L1	c.1933G>T	NM_178857.5	NP_849188.4:p.(Ala645Ser)	NC_000008.10:g.10469675C>A	VUS	1 lab	605a63b441
9:124065295 GSN C>T	9	124065295	124065295	C	T	GSN	c.411C>T	NM_001127663.1	NP_001121135.2:p.(Phe137=)	NC_000009.11:g.124065295C>T	(Likely) benign	1 lab	605ba18727
16:23647008 PALB2 C>T	16	23647008	23647008	C	T	PALB2	c.859G>A	NM_024675.3	NP_078951.2:p.(Val287Ile)	NC_000016.9:g.23647008C>T	(Likely) benign	1 lab	605ce9dce0
16:2134247 TSC2 C>T	16	2134247	2134247	C	T	TSC2	c.4024C>T	NM_000548.3	NP_000539.2:p.(Gln1342Ter)	NC_000016.9:g.2134247C>T	(Likely) pathogenic	1 lab	605cefca60
15:57922019 MYZAP AGC>A	15	57922019	57922023	AGC	A	MYZAP	c.648_649del	NM_001018100.5	NP_001018110.1:p.(Gln217SerfsTer2)	NC_000015.9:g.57922022_57922023del	(Likely) pathogenic	1 lab	f3a82ac0b7
6:26501828 BTN1A1 C>T	6	26501828	26501828	C	T	BTN1A1	c.90C>T	NM_001732.2	NP_001723.2:p.(Asp30=)	NC_000006.11:g.26501828C>T	(Likely) benign	1 lab	605e374f7c
2:110957660 NPHP1 A>G	2	110957660	110957660	A	G	NPHP1	c.143+1338T>C	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110957660A>G	(Likely) benign	1 lab	605ef13d21
14:50667710 SOS2 AG>A	14	50667710	50667712	AG	A	SOS2	c.305del	NM_006939.4	NP_008870.2:p.(Pro102LeufsTer13)	NC_000014.8:g.50667712del	(Likely) pathogenic	1 lab	606033853e
13:78475253 EDNRB G>A	13	78475253	78475253	G	A	EDNRB	c.1161C>T	NM_001201397.1	NP_001188326.1:p.(Thr387=)	NC_000013.10:g.78475253G>A	(Likely) benign	1 lab	6060375be9
1:215963494 USH2A A>G	1	215963494	215963494	A	G	USH2A	c.10089T>C	NM_206933.2	NP_996816.2:p.(Leu3363=)	NC_000001.10:g.215963494A>G	(Likely) benign	1 lab	6060fdd493
18:7033007 LAMA1 T>C	18	7033007	7033007	T	C	LAMA1	c.2139A>G	NM_005559.3	NP_005550.2:p.(Gln713=)	NC_000018.9:g.7033007T>C	(Likely) benign	1 lab	6061ea51e2
7:21675617 DNAH11 G>A	7	21675617	21675617	G	A	DNAH11				NC_000007.13:g.21675617G>A	(Likely) pathogenic	1 lab	70afa08b2e
15:43044423 TTBK2 T>C	15	43044423	43044423	T	C	TTBK2	c.3021A>G	NM_173500.3	NP_775771.3:p.(Leu1007=)	NC_000015.9:g.43044423T>C	(Likely) benign	1 lab	606345bd0c
1:1475107 TMEM240 G>GC	1	1475107	1475108	G	GC	TMEM240	c.120dup	NM_001114748.1	NP_001108220.1:p.(His41AlafsTer192)	NC_000001.10:g.1475108dup	(Likely) pathogenic	1 lab	606357be83
3:75786264 ZNF717 G>T	3	75786264	75786264	G	T	ZNF717	c.2510C>A	NM_001128223.3	NP_001121695.1:p.(Thr837Lys)	NC_000003.11:g.75786264G>T	(Likely) benign	1 lab	6064ec107f
1:241803505 OPN3 C>T	1	241803505	241803505	C	T	OPN3	c.52G>A	NM_014322.3	NP_055137.2:p.(Ala18Thr)	NC_000001.10:g.241803505C>T	(Likely) benign	1 lab	60652b163e
21:43802337 TMPRSS3 G>A	21	43802337	43802337	G	A	TMPRSS3	c.789C>T	NM_024022.2	NP_076927.1:p.(Tyr263=)	NC_000021.8:g.43802337G>A	(Likely) benign	1 lab	6067104c97
X:68058740 EFNB1 G>T	X	68058740	68058740	G	T	EFNB1	c.406+3G>T	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68058740G>T	(Likely) pathogenic	1 lab	6067393009
2:179527532 TTN T>C	2	179527532	179527532	T	C	TTN	c.36798A>G	NM_001267550.1	NP_001254479.1:p.(Glu12266=)	NC_000002.11:g.179527532T>C	(Likely) benign	1 lab	6067986fb7
9:710987 KANK1 C>T	9	710987	710987	C	T	KANK1	c.221C>T	NM_001256877.2	NP_001243806.1:p.(Pro74Leu)	NC_000009.11:g.710987C>T	(Likely) benign	1 lab	6068404b4f
2:238269764 COL6A3 G>A	2	238269764	238269764	G	A	COL6A3	c.6210C>T	NM_004369.3	NP_004360.2:p.(Pro2070=)	NC_000002.11:g.238269764G>A	(Likely) benign	1 lab	6069e70f0a
1:11850868 MTHFR C>T	1	11850868	11850868	C	T	MTHFR	c.1840G>A	NM_005957.5	NP_005948.3:p.(Asp614Asn)	NC_000001.10:g.11850868C>T	VUS	1 lab	f3a93cd795
1:240286552 FMN2 C>A	1	240286552	240286552	C	A	FMN2	c.1689C>A	NM_001305424.1	NP_001292353.1:p.(Ser563=)	NC_000001.10:g.240286552C>A	(Likely) benign	1 lab	606b7d9378
3:140167506 CLSTN2 C>T	3	140167506	140167506	C	T	CLSTN2	c.933C>T	NM_022131.3	NP_071414.2:p.(Asp311=)	NC_000003.11:g.140167506C>T	(Likely) benign	1 lab	606cd23de2
9:139402795 NOTCH1 C>T	9	139402795	139402795	C	T	NOTCH1	c.3214G>A	NM_017617.5	NP_060087.3:p.(Gly1072Ser)	NC_000009.11:g.139402795C>T	VUS	1 lab	606dd666f8
4:140278616 NAA15 TCAGC>T	4	140278616	140278622	TCAGC	T	NAA15	c.1167_1170del	NM_057175.5	NP_476516.1:p.(Gln389HisfsTer8)	NC_000004.11:g.140278619_140278622del	(Likely) pathogenic	1 lab	606efd136f
3:4716811 ITPR1 A>C	3	4716811	4716811	A	C	ITPR1	c.2658A>C	NM_001099952.2	NP_001093422.2:p.(Leu886=)	NC_000003.11:g.4716811A>C	(Likely) benign	1 lab	607026efe5
16:88781638 CTU2 C>T	16	88781638	88781638	C	T	CTU2	c.1740C>T	NM_001318507.1	NP_001305436.1:p.(Asp580=)	NC_000016.9:g.88781638C>T	(Likely) benign	1 lab	6071682934
11:67376944 NDUFV1 C>T	11	67376944	67376944	C	T	NDUFV1	c.348C>T	NM_007103.3	NP_009034.2:p.(Asn116=)	NC_000011.9:g.67376944C>T	(Likely) benign	1 lab	6075522a3b
2:189852671 COL3A1 TAGTTATCAAAA>T	2	189852671	189852693	TAGTTATCAAAA	T	COL3A1	c.529-124_529-114del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189852683_189852693del	(Likely) benign	1 lab	607785bdd9
5:127671155 FBN2 G>A	5	127671155	127671155	G	A	FBN2	c.3839C>T	NM_001999.3	NP_001990.2:p.(Ser1280Leu)	NC_000005.9:g.127671155G>A	VUS	1 lab	607886b685
16:2106652 TSC2 T>C	16	2106652	2106652	T	C	TSC2	c.656T>C	NM_000548.3	NP_000539.2:p.(Leu219Pro)	NC_000016.9:g.2106652T>C	(Likely) pathogenic	1 lab	6079452c4e
19:10254638 DNMT1 G>A	19	10254638	10254638	G	A	DNMT1	c.2872C>T	NM_001379.3	NP_001370.1:p.(Arg958Cys)	NC_000019.9:g.10254638G>A	VUS	1 lab	607cb7a9b9
14:76245955 TTLL5 C>T	14	76245955	76245955	C	T	TTLL5	c.2425C>T	NM_015072.4	NP_055887.3:p.(Gln809Ter)	NC_000014.8:g.76245955C>T	(Likely) pathogenic	1 lab	607ccb5077
6:80912887 BCKDHB TC>T	6	80912887	80912888	TC	T	BCKDHB	c.910del	NM_183050.4	NP_898871.1:p.(Leu304Ter)	NC_000006.11:g.80912888del	(Likely) pathogenic	1 lab	607d3332ee
7:151843713 KMT2C C>T	7	151843713	151843713	C	T	KMT2C	c.14002G>A	NM_170606.2	NP_733751.2:p.(Val4668Ile)	NC_000007.13:g.151843713C>T	VUS	1 lab	607d35ecb6
17:36508570 SOCS7 G>A	17	36508570	36508570	G	A	SOCS7	c.635G>A	NM_014598.4	NP_055413.2:p.(Gly212Asp)	NC_000017.10:g.36508570G>A	VUS	1 lab	607ef457bc
7:92116849 PEX1 T>A	7	92116849	92116849	T	A	PEX1	c.3150A>T	NM_001282678.1	NP_001269607.1:p.(Glu1050Asp)	NC_000007.13:g.92116849T>A	(Likely) benign	1 lab	6080b893e7
8:11614484 GATA4 TTCCAGCAAC>T	8	11614484	11614502	TTCCAGCAAC	T	GATA4	c.1048_1056del	NM_002052.5	NP_002043.2:p.(Ser350_Asn352del)	NC_000008.10:g.11614494_11614502del	VUS	1 lab	f3aac6b7f2
12:7842573 GDF3 G>C	12	7842573	7842573	G	C	GDF3	c.996C>G	NM_020634.2	NP_065685.1:p.(Thr332=)	NC_000012.11:g.7842573G>C	(Likely) benign	1 lab	60837fbc41
14:64625478 SYNE2 T>C	14	64625478	64625478	T	C	SYNE2	c.15928T>C	NM_182914.2	NP_878918.2:p.(Leu5310=)	NC_000014.8:g.64625478T>C	(Likely) benign	1 lab	6083c4e051
6:31691697 MPIG6B G>A	6	31691697	31691697	G	A	MPIG6B	c.343G>A	NM_138277.2	NP_612121.1:p.(Glu115Lys)	NC_000006.11:g.31691697G>A	VUS	1 lab	6084668c9d
1:152279452 FLG C>A	1	152279452	152279452	C	A	FLG	c.7910G>T	NM_002016.1	NP_002007.1:p.(Gly2637Val)	NC_000001.10:g.152279452C>A	VUS	1 lab	608511b4e1
11:64507600 RASGRP2 C>T	11	64507600	64507600	C	T	RASGRP2	c.407G>A	NM_153819.1	NP_722541.1:p.(Arg136Gln)	NC_000011.9:g.64507600C>T	VUS	1 lab	60861bb7e7
X:101909851 GPRASP1 G>A	X	101909851	101909851	G	A	GPRASP1	c.1010G>A	NM_001184727.1	NP_001171656.1:p.(Arg337Gln)	NC_000023.10:g.101909851G>A	(Likely) benign	1 lab	608692a1d2
17:29552128 NF1 TC>T	17	29552128	29552130	TC	T	NF1	c.1863del	NM_001042492.3	NP_001035957.1:p.(Cys622ValfsTer9)	NC_000017.10:g.29552130del	(Likely) pathogenic	1 lab	6087b4406a
X:73961847 NEXMIF C>T	X	73961847	73961847	C	T	NEXMIF	c.2545G>A	NM_001008537.2	NP_001008537.1:p.(Glu849Lys)	NC_000023.10:g.73961847C>T	(Likely) benign	1 lab	6087ef918e
X:47107250 USP11 C>A	X	47107250	47107250	C	A	USP11	c.2813C>A	NM_004651.3	NP_004642.2:p.(Ser938Tyr)	NC_000023.10:g.47107250C>A	(Likely) benign	1 lab	60896bd118
1:7804957 CAMTA1 G>C	1	7804957	7804957	G	C	CAMTA1	c.4245G>C	NM_015215.3	NP_056030.1:p.(Glu1415Asp)	NC_000001.10:g.7804957G>C	VUS	1 lab	60897e7e01
18:6983100 LAMA1 G>C	18	6983100	6983100	G	C	LAMA1	c.5794C>G	NM_005559.3	NP_005550.2:p.(Leu1932Val)	NC_000018.9:g.6983100G>C	(Likely) benign	1 lab	608a1d7276
18:72776283 ZNF407 C>T	18	72776283	72776283	C	T	ZNF407	c.6606C>T	NM_017757.2	NP_060227.2:p.(Ala2202=)	NC_000018.9:g.72776283C>T	(Likely) benign	1 lab	608b397279
5:37007561 NIPBL CACA>C	5	37007561	37007568	CACA	C	NIPBL	c.4229_4231del	NM_015384.5	NP_056199.2:p.(Thr1410del)	NC_000005.9:g.37007566_37007568del	VUS	1 lab	f3af021086
1:119964745 HSD3B2 C>T	1	119964745	119964745	C	T	HSD3B2	c.621C>T	NM_000198.4	NP_000189.1:p.(Asn207=)	NC_000001.10:g.119964745C>T	(Likely) benign	1 lab	608e20259c
5:112173771 APC A>AT	5	112173771	112173772	A	AT	APC	c.2481dup	NM_000038.4	NP_000029.2:p.(Thr828TyrfsTer16)	NC_000005.9:g.112173772dup	(Likely) pathogenic	1 lab	608f7ffe25
12:58131886 AGAP2 C>T	12	58131886	58131886	C	T	AGAP2	c.144G>A	NM_001122772.2	NP_001116244.1:p.(Glu48=)	NC_000012.11:g.58131886C>T	(Likely) benign	1 lab	608faaab72
12:52404676 TAMALIN C>T	12	52404676	52404676	C	T	TAMALIN	c.308C>T	NM_181711.3	NP_859062.1:p.(Thr103Met)	NC_000012.11:g.52404676C>T	VUS	1 lab	6090643653
12:94244044 CRADD G>A	12	94244044	94244044	G	A	CRADD	c.597G>A	NM_001320099.1	NP_001307028.1:p.(Glu199=)	NC_000012.11:g.94244044G>A	(Likely) benign	1 lab	60908577be
15:42178167 SPTBN5 C>T	15	42178167	42178167	C	T	SPTBN5	c.1286G>A	NM_016642.4	NP_057726.4:p.(Arg429Gln)	NC_000015.9:g.42178167C>T	(Likely) benign	1 lab	6090eff094
X:155232617 IL9R G>T	X	155232617	155232617	G	T	IL9R	c.216G>T	NM_176786.1	NP_789743.2:p.(Trp72Cys)	NC_000023.10:g.155232617G>T	(Likely) benign	1 lab	609120c8d6
4:119237386 PRSS12 C>T	4	119237386	119237386	C	T	PRSS12	c.1243G>A	NM_003619.3	NP_003610.2:p.(Gly415Ser)	NC_000004.11:g.119237386C>T	VUS	1 lab	60924ae960
14:105995801 TMEM121 G>T	14	105995801	105995801	G	T	TMEM121	c.630G>T	NM_025268.4	NP_079544.1:p.(Ala210=)	NC_000014.8:g.105995801G>T	(Likely) benign	1 lab	6093052943
6:167753985 TTLL2 G>A	6	167753985	167753985	G	A	TTLL2	c.597G>A	NM_031949.5	NP_114155.4:p.(Arg199=)	NC_000006.11:g.167753985G>A	(Likely) benign	1 lab	6093ad9518
12:102158082 GNPTAB G>A	12	102158082	102158082	G	A	GNPTAB	c.2613C>T	NM_024312.4	NP_077288.2:p.(Gly871=)	NC_000012.11:g.102158082G>A	(Likely) benign	1 lab	6093c76c77
17:58120949 HEATR6 G>T	17	58120949	58120949	G	T	HEATR6	c.3521C>A	NM_022070.4	NP_071353.4:p.(Ala1174Glu)	NC_000017.10:g.58120949G>T	(Likely) benign	1 lab	609683e5b8
1:47882148 FOXE3 C>T	1	47882148	47882148	C	T	FOXE3	c.161C>T	NM_012186.2	NP_036318.1:p.(Thr54Met)	NC_000001.10:g.47882148C>T	(Likely) benign	1 lab	6096fdfd44
5:74677774 CERT1 A>G	5	74677774	74677774	A	G	CERT1	c.2001T>C	NM_001130105.1	NP_001123577.1:p.(Pro667=)	NC_000005.9:g.74677774A>G	(Likely) benign	1 lab	f3b02ab67c
6:17669262 NUP153 G>A	6	17669262	17669262	G	A	NUP153	c.1015-3C>T	NM_001278209.1	NP_001265138.1:p.?	NC_000006.11:g.17669262G>A	(Likely) benign	1 lab	60990376ed
X:128879209 XPNPEP2 C>T	X	128879209	128879209	C	T	XPNPEP2	c.265C>T	NM_003399.5	NP_003390.4:p.(Arg89Cys)	NC_000023.10:g.128879209C>T	VUS	1 lab	609a3cf86b
5:1294532 TERT C>T	5	1294532	1294532	C	T	TERT	c.469G>A	NM_198253.2	NP_937983.2:p.(Ala157Thr)	NC_000005.9:g.1294532C>T	VUS	1 lab	7226031252
19:48634336 LIG1 G>A	19	48634336	48634336	G	A	LIG1	c.1815C>T	NM_001320970.1	NP_001307899.1:p.(Pro605=)	NC_000019.9:g.48634336G>A	(Likely) benign	1 lab	609aef2e61
7:130038822 CEP41 G>A	7	130038822	130038822	G	A	CEP41	c.1032C>T	NM_018718.2	NP_061188.1:p.(Ser344=)	NC_000007.13:g.130038822G>A	(Likely) benign	1 lab	609c0cc91e
17:70120165 SOX9 G>A	17	70120165	70120165	G	A	SOX9	c.1167G>A	NM_000346.3	NP_000337.1:p.(Pro389=)	NC_000017.10:g.70120165G>A	(Likely) benign	1 lab	609dc7fc7b
13:103524707 ERCC5 A>G	13	103524707	103524707	A	G	ERCC5	c.2838A>G	NM_000123.3	NP_000114.2:p.(Gly946=)	NC_000013.10:g.103524707A>G	(Likely) benign	1 lab	609f99b860
6:152456313 SYNE1 T>C	6	152456313	152456313	T	C	SYNE1	c.25714A>G	NM_182961.3	NP_892006.3:p.(Arg8572Gly)	NC_000006.11:g.152456313T>C	VUS	1 lab	60a13cb416
15:100514610 ADAMTS17 C>T	15	100514610	100514610	C	T	ADAMTS17	c.3285G>A	NM_139057.3	NP_620688.2:p.(Ser1095=)	NC_000015.9:g.100514610C>T	(Likely) benign	1 lab	60a2bdc2d6
X:48681595 HDAC6 T>C	X	48681595	48681595	T	C	HDAC6	c.2786T>C	NM_001321226.1	NP_001308155.1:p.(Ile929Thr)	NC_000023.10:g.48681595T>C	(Likely) benign	1 lab	60a39cbb64
3:50679176 MAPKAPK3 G>A	3	50679176	50679176	G	A	MAPKAPK3	c.398G>A	NM_001243926.1	NP_001230855.1:p.(Arg133His)	NC_000003.11:g.50679176G>A	VUS	1 lab	60a3d6bff8
11:73745148 C2CD3 T>G	11	73745148	73745148	T	G	C2CD3	c.6057A>C	NM_001286577.1	NP_001273506.1:p.(Pro2019=)	NC_000011.9:g.73745148T>G	(Likely) benign	1 lab	60a63d322f
10:123324002 FGFR2 G>A	10	123324002	123324002	G	A	FGFR2	c.454+14C>T	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123324002G>A	(Likely) benign	1 lab	60a6d859c5
1:43894073 SZT2 G>C	1	43894073	43894073	G	C	SZT2	c.3911G>C	NM_015284.3	NP_056099.3:p.(Gly1304Ala)	NC_000001.10:g.43894073G>C	(Likely) benign	1 lab	60a7a79ea9
2:198508906 RFTN2 G>A	2	198508906	198508906	G	A	RFTN2	c.414C>T	NM_144629.2	NP_653230.2:p.(Asp138=)	NC_000002.11:g.198508906G>A	(Likely) benign	1 lab	60a853ecea
16:20554293 ACSM2B C>T	16	20554293	20554293	C	T	ACSM2B	c.1452G>A	NM_182617.3	NP_872423.3:p.(Lys484=)	NC_000016.9:g.20554293C>T	(Likely) benign	1 lab	60a9d1b2c3
12:124156637 TCTN2 C>T	12	124156637	124156637	C	T	TCTN2	c.225C>T	NM_024809.4	NP_079085.2:p.(Asn75=)	NC_000012.11:g.124156637C>T	(Likely) benign	1 lab	60aa7a4a7f
12:117155664 SPRING1 A>G	12	117155664	117155664	A	G	SPRING1	c.569T>C	NM_024738.4	NP_079014.1:p.(Ile190Thr)	NC_000012.11:g.117155664A>G	(Likely) benign	1 lab	60acb7b817
6:32008293 CYP21A2 C>T	6	32008293	32008293	C	T	CYP21A2	c.1050C>T	NM_000500.9	NP_000491.4:p.(Ile350=)	NC_000006.11:g.32008293C>T	(Likely) benign	1 lab	60ad22fc34
15:66996132 SMAD6 T>C	15	66996132	66996132	T	C	SMAD6	c.536T>C	NM_005585.4	NP_005576.3:p.(Leu179Pro)	NC_000015.9:g.66996132T>C	VUS	1 lab	60aeace35e
19:11687534 ACP5 C>T	19	11687534	11687534	C	T	ACP5	c.386G>A	NM_001111035.2	NP_001104505.1:p.(Arg129His)	NC_000019.9:g.11687534C>T	VUS	1 lab	60b00f2e43
7:128494546 FLNC C>T	7	128494546	128494546	C	T	FLNC	c.6807C>T	NM_001458.4	NP_001449.3:p.(Gly2269=)	NC_000007.13:g.128494546C>T	VUS	1 lab	60b125ed78
11:5809140 OR52N1 G>T	11	5809140	5809140	G	T	OR52N1	c.907C>A	NM_001001913.1	NP_001001913.1:p.(Arg303=)	NC_000011.9:g.5809140G>T	(Likely) benign	1 lab	60b29588ed
11:22277040 ANO5 A>G	11	22277040	22277040	A	G	ANO5	c.1304A>G	NM_213599.2	NP_998764.1:p.(Lys435Arg)	NC_000011.9:g.22277040A>G	(Likely) benign	1 lab	60b2fef765
22:38528988 PLA2G6 G>A	22	38528988	38528988	G	A	PLA2G6	c.393C>T	NM_001349867.1	NP_001336796.1:p.(Asn131=)	NC_000022.10:g.38528988G>A	(Likely) benign	1 lab	60b3f0807b
13:32907465 BRCA2 C>G	13	32907465	32907465	C	G	BRCA2	c.1850C>G	NM_000059.4	NP_000050.3:p.(Ser617Ter)	NC_000013.10:g.32907465C>G	(Likely) pathogenic	1 lab	f3b414f2b4
11:1778646 CTSD G>A	11	1778646	1778646	G	A	CTSD	c.612C>T	NM_001909.4	NP_001900.1:p.(Pro204=)	NC_000011.9:g.1778646G>A	(Likely) benign	1 lab	60b43bf65a
X:39921617 BCOR C>T	X	39921617	39921617	C	T	BCOR	c.4203G>A	NM_001123385.1	NP_001116857.1:p.(Pro1401=)	NC_000023.10:g.39921617C>T	(Likely) benign	1 lab	60b4505960
11:124757366 ROBO4 G>A	11	124757366	124757366	G	A	ROBO4	c.2086C>T	NM_019055.5	NP_061928.4:p.(Arg696Trp)	NC_000011.9:g.124757366G>A	VUS	1 lab	60b4e07d4d
4:71508030 ENAM A>G	4	71508030	71508030	A	G	ENAM	c.887A>G	NM_031889.3	NP_114095.2:p.(Asn296Ser)	NC_000004.11:g.71508030A>G	VUS	1 lab	f3b4ee78a9
2:3691394 COLEC11 C>T	2	3691394	3691394	C	T	COLEC11	c.493C>T	NM_199235.2	NP_954705.1:p.(Leu165=)	NC_000002.11:g.3691394C>T	(Likely) benign	1 lab	60b7e2881c
22:50512732 MLC1 G>A	22	50512732	50512732	G	A	MLC1	c.627C>T	NM_015166.3	NP_055981.1:p.(Ala209=)	NC_000022.10:g.50512732G>A	(Likely) benign	1 lab	60b944db85
2:39216445 SOS1 G>A	2	39216445	39216445	G	A	SOS1	c.3357C>T	NM_005633.3	NP_005624.2:p.(Thr1119=)	NC_000002.11:g.39216445G>A	(Likely) benign	1 lab	60b9937f73
7:91851281 KRIT1 G>A	7	91851281	91851281	G	A	KRIT1	c.1498C>T	NM_004912.4	NP_004903.2:p.(Gln500Ter)	NC_000007.13:g.91851281G>A	(Likely) pathogenic	1 lab	60ba273fbf
19:3920806 ATCAY A>T	19	3920806	3920806	A	T	ATCAY	c.1106+10A>T	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3920806A>T	VUS	1 lab	60bbfdc552
6:44269108 AARS2 T>A	6	44269108	44269108	T	A	AARS2	c.2682+10A>T	NM_020745.3	NP_065796.1:p.?	NC_000006.11:g.44269108T>A	(Likely) benign	1 lab	60bc755406
8:145583999 SLC52A2 T>A	8	145583999	145583999	T	A	SLC52A2	c.847T>A	NM_024531.4	NP_078807.1:p.(Leu283Met)	NC_000008.10:g.145583999T>A	(Likely) benign	1 lab	60bfbc56e7
16:89167117 ACSF3 C>T	16	89167117	89167117	C	T	ACSF3	c.28C>T	NM_001243279.2	NP_001230208.1:p.(Arg10Trp)	NC_000016.9:g.89167117C>T	(Likely) benign	1 lab	60c086855b
5:13830156 DNAH5 T>C	5	13830156	13830156	T	C	DNAH5	c.6228A>G	NM_001369.2	NP_001360.1:p.(Glu2076=)	NC_000005.9:g.13830156T>C	VUS	1 lab	60c151449e
7:142460379 PRSS1 C>T	7	142460379	142460379	C	T	PRSS1	c.552C>T	NM_002769.4	NP_002760.1:p.(Phe184=)	NC_000007.13:g.142460379C>T	(Likely) benign	1 lab	60c20ad0d3
15:72641459 HEXA T>G	15	72641459	72641459	T	G	HEXA	c.980A>C	NM_001318825.1	NP_001305754.1:p.(Tyr327Ser)	NC_000015.9:g.72641459T>G	VUS	1 lab	60c2c65846
6:16327939 ATXN1 C>A	6	16327939	16327939	C	A	ATXN1	c.603G>T	NM_000332.3	NP_000323.2:p.(Gln201His)	NC_000006.11:g.16327939C>A	(Likely) benign	1 lab	60c2eba8e4
11:47362689 MYBPC3 C>T	11	47362689	47362689	C	T	MYBPC3	c.1897G>A	NM_000256.3	NP_000247.2:p.(Glu633Lys)	NC_000011.9:g.47362689C>T	VUS	1 lab	60c3893a75
21:33694893 URB1 C>T	21	33694893	33694893	C	T	URB1	c.5235G>A	NM_014825.3	NP_055640.2:p.(Glu1745=)	NC_000021.8:g.33694893C>T	(Likely) benign	1 lab	60c439250b
19:6501530 TUBB4A G>A	19	6501530	6501530	G	A	TUBB4A	c.162C>T	NM_006087.4	NP_006078.2:p.(Ala54=)	NC_000019.9:g.6501530G>A	(Likely) benign	1 lab	60c4d26ec4
17:27066227 NEK8 C>T	17	27066227	27066227	C	T	NEK8	c.1417+8C>T	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27066227C>T	(Likely) benign	1 lab	60c5f25a04
11:108158167 ATM T>C	11	108158167	108158167	T	C	ATM	c.3994-160T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158167T>C	(Likely) pathogenic	1 lab	f3b917fce5
17:29562788 NF1 A>T	17	29562788	29562788	A	T	NF1	c.3868A>T	NM_000267.3	NP_000258.1:p.(Lys1290Ter)	NC_000017.10:g.29562788A>T	(Likely) pathogenic	1 lab	60c9c047ce
15:64025249 HERC1 T>C	15	64025249	64025249	T	C	HERC1	c.2742A>G	NM_003922.3	NP_003913.3:p.(Leu914=)	NC_000015.9:g.64025249T>C	(Likely) benign	1 lab	60ca2b09a9
21:44485794 LOC102724560 C>T	21	44485794	44485794	C	T	LOC102724560	c.463G>A	NM_001354006.1	NP_001340935.1:p.(Ala155Thr)	NC_000021.8:g.44485794C>T	VUS	1 lab	60ccf52ccb
2:179413185 TTN T>C	2	179413185	179413185	T	C	TTN	c.93168A>G	NM_001267550.1	NP_001254479.1:p.(Arg31056=)	NC_000002.11:g.179413185T>C	(Likely) benign	1 lab	60cdc28c52
X:153458989 OPN1MW T>G	X	153458989	153458989	T	G	OPN1MW	c.835T>G	NM_000513.2	NP_000504.1:p.(Phe279Val)	NC_000023.10:g.153458989T>G	(Likely) benign	1 lab	60ce3227d7
22:21337317 LZTR1 C>A	22	21337317	21337317	C	A	LZTR1	c.202C>A	NM_006767.4	NP_006758.2:p.(Arg68Ser)	NC_000022.10:g.21337317C>A	VUS	1 lab	f3b9e0e01b
X:49083570 CACNA1F C>G	X	49083570	49083570	C	G	CACNA1F	c.1138G>C	NM_005183.3	NP_005174.2:p.(Glu380Gln)	NC_000023.10:g.49083570C>G	VUS	1 lab	60d1569b90
18:21464793 LAMA3 G>A	18	21464793	21464793	G	A	LAMA3	c.452G>A	NM_000227.6	NP_000218.3:p.(Gly151Glu)	NC_000018.9:g.21464793G>A	VUS	1 lab	f6e7b23688
5:160761840 GABRB2 T>C	5	160761840	160761840	T	C	GABRB2	c.751A>G	NM_021911.3	NP_068711.1:p.(Met251Val)	NC_000005.9:g.160761840T>C	VUS	1 lab	f3ba5c7de7
17:29560111 NF1 TG>T	17	29560111	29560112	TG	T	NF1	c.3589del	NM_001042492.3	NP_001035957.1:p.(Ala1197GlnfsTer18)	NC_000017.10:g.29560112del	(Likely) pathogenic	1 lab	60d3357426
6:152861106 SYNE1 G>A	6	152861106	152861106	G	A	SYNE1	c.118C>T	NM_182961.3	NP_892006.3:p.(His40Tyr)	NC_000006.11:g.152861106G>A	VUS	1 lab	60d43d176a
8:10469637 RP1L1 G>A	8	10469637	10469637	G	A	RP1L1	c.1971C>T	NM_178857.5	NP_849188.4:p.(Gly657=)	NC_000008.10:g.10469637G>A	(Likely) benign	1 lab	60d4b14802
15:91354575 BLM A>G	15	91354575	91354575	A	G	BLM	c.2890A>G	NM_001287248.1	NP_001274177.1:p.(Met964Val)	NC_000015.9:g.91354575A>G	VUS	1 lab	60d5ddc9d3
18:44102126 LOXHD1 G>A	18	44102126	44102126	G	A	LOXHD1	c.5023C>T	NM_144612.6	NP_653213.6:p.(Arg1675Cys)	NC_000018.9:g.44102126G>A	(Likely) benign	1 lab	60db5c8d35
1:196762564 CFHR3 G>A	1	196762564	196762564	G	A	CFHR3	c.914G>A	NM_021023.5	NP_066303.2:p.(Gly305Glu)	NC_000001.10:g.196762564G>A	(Likely) benign	1 lab	60dc9ef892
7:19156525 TWIST1 C>T	7	19156525	19156525	C	T	TWIST1	c.420G>A	NM_000474.3	NP_000465.1:p.(Ser140=)	NC_000007.13:g.19156525C>T	(Likely) benign	1 lab	60df5011aa
3:58107035 FLNB G>A	3	58107035	58107035	G	A	FLNB	c.2931G>A	NM_001164317.1	NP_001157789.1:p.(Leu977=)	NC_000003.11:g.58107035G>A	(Likely) benign	1 lab	60e1961de3
1:44365291 ST3GAL3 C>T	1	44365291	44365291	C	T	ST3GAL3	c.357C>T	NM_001350621.1	NP_001337550.1:p.(Gly119=)	NC_000001.10:g.44365291C>T	(Likely) benign	1 lab	60e1bdc1b6
3:15115980 RBSN C>T	3	15115980	15115980	C	T	RBSN	c.1664G>A	NM_022340.3	NP_071735.2:p.(Gly555Asp)	NC_000003.11:g.15115980C>T	(Likely) benign	1 lab	60e25e3247
2:160087161 TANC1 C>T	2	160087161	160087161	C	T	TANC1	c.5203C>T	NM_001350065.1	NP_001336994.1:p.(Arg1735Cys)	NC_000002.11:g.160087161C>T	VUS	1 lab	60e26dfe02
2:29416794 ALK G>A	2	29416794	29416794	G	A	ALK				NC_000002.11:g.29416794G>A	(Likely) benign	1 lab	60e34d990a
19:54401349 PRKCG A>C	19	54401349	54401349	A	C	PRKCG	c.1076A>C	NM_002739.3	NP_002730.1:p.(Lys359Thr)	NC_000019.9:g.54401349A>C	VUS	1 lab	60e4ece801
14:102805260 ZNF839 G>C	14	102805260	102805260	G	C	ZNF839	c.1767G>C	NM_018335.4	NP_060805.3:p.(Glu589Asp)	NC_000014.8:g.102805260G>C	(Likely) benign	1 lab	60e676ea49
2:172965585 DLX2 T>C	2	172965585	172965585	T	C	DLX2	c.673A>G	NM_004405.3	NP_004396.1:p.(Ser225Gly)	NC_000002.11:g.172965585T>C	VUS	1 lab	60e75c8cb2
1:234613993 TARBP1 T>G	1	234613993	234613993	T	G	TARBP1	c.857A>C	NM_005646.4	NP_005637.3:p.(Tyr286Ser)	NC_000001.10:g.234613993T>G	VUS	1 lab	60e8935cfb
X:9862551 SHROOM2 C>T	X	9862551	9862551	C	T	SHROOM2	c.603C>T	NM_001649.3	NP_001640.1:p.(Gly201=)	NC_000023.10:g.9862551C>T	(Likely) benign	1 lab	60eb3ef69c
8:37730612 RAB11FIP1 T>C	8	37730612	37730612	T	C	RAB11FIP1	c.1708A>G	NM_001002814.2	NP_001002814.2:p.(Ser570Gly)	NC_000008.10:g.37730612T>C	(Likely) benign	1 lab	60ec31ec25
16:2153335 PKD1 A>T	16	2153335	2153335	A	T	PKD1	c.8723T>A	NM_001009944.2	NP_001009944.2:p.(Val2908Glu)	NC_000016.9:g.2153335A>T	VUS	1 lab	60ec92e16f
20:47990363 KCNB1 C>G	20	47990363	47990363	C	G	KCNB1	c.1734G>C	NM_004975.3	NP_004966.1:p.(Gly578=)	NC_000020.10:g.47990363C>G	(Likely) benign	1 lab	60ed74139c
1:152281520 FLG C>T	1	152281520	152281520	C	T	FLG	c.5842G>A	NM_002016.1	NP_002007.1:p.(Glu1948Lys)	NC_000001.10:g.152281520C>T	VUS	1 lab	60edb9df2b
1:243809352 AKT3 G>A	1	243809352	243809352	G	A	AKT3				NC_000001.10:g.243809352G>A	(Likely) benign	1 lab	60f10a0946
X:67518943 OPHN1 A>G	X	67518943	67518943	A	G	OPHN1	c.155-5T>C	NM_002547.2	NP_002538.1:p.?	NC_000023.10:g.67518943A>G	VUS	1 lab	73e430a663
10:112581295 RBM20 CT>C	10	112581295	112581296	CT	C	RBM20	c.2919del	NM_001134363.3	NP_001127835.2:p.(Ala974GlnfsTer29)	NC_000010.10:g.112581296del	VUS	1 lab	60f508dcb1
X:75649287 MAGEE1 C>G	X	75649287	75649287	C	G	MAGEE1	c.964C>G	NM_020932.2	NP_065983.1:p.(Pro322Ala)	NC_000023.10:g.75649287C>G	VUS	1 lab	60f6799dfd
10:50316034 VSTM4 C>T	10	50316034	50316034	C	T	VSTM4	c.62G>A	NM_001031746.5	NP_001026916.2:p.(Cys21Tyr)	NC_000010.10:g.50316034C>T	VUS	1 lab	60f6a5211e
1:152280074 FLG G>A	1	152280074	152280074	G	A	FLG	c.7288C>T	NM_002016.1	NP_002007.1:p.(Arg2430Trp)	NC_000001.10:g.152280074G>A	(Likely) benign	1 lab	60f8da9b6a
X:3228395 MXRA5 C>T	X	3228395	3228395	C	T	MXRA5	c.7849G>A	NM_015419.3	NP_056234.2:p.(Val2617Met)	NC_000023.10:g.3228395C>T	VUS	1 lab	60f954f24f
2:150432972 MMADHC A>G	2	150432972	150432972	A	G	MMADHC	c.457T>C	NM_015702.2	NP_056517.1:p.(Cys153Arg)	NC_000002.11:g.150432972A>G	VUS	1 lab	60f97dd45e
17:6441383 PITPNM3 G>A	17	6441383	6441383	G	A	PITPNM3	c.42C>T	NM_031220.3	NP_112497.2:p.(Gly14=)	NC_000017.10:g.6441383G>A	(Likely) benign	1 lab	60f97e9149
15:65321918 MTFMT G>T	15	65321918	65321918	G	T	MTFMT	c.34C>A	NM_139242.3	NP_640335.2:p.(Pro12Thr)	NC_000015.9:g.65321918G>T	(Likely) benign	1 lab	60fbc13b7b
X:96327968 DIAPH2 AAAG>A	X	96327968	96327975	AAAG	A	DIAPH2	c.2084_2086del	NM_006729.5	NP_006720.1:p.(Lys695del)	NC_000023.10:g.96327973_96327975del	VUS	1 lab	6102329842
19:57955392 ZNF749 C>T	19	57955392	57955392	C	T	ZNF749	c.855C>T	NM_001321952.1	NP_001308881.1:p.(Leu285=)	NC_000019.9:g.57955392C>T	(Likely) benign	1 lab	61025b7497
8:144995664 PLEC A>G	8	144995664	144995664	A	G	PLEC	c.8736T>C	NM_201380.3	NP_958782.1:p.(Thr2912=)	NC_000008.10:g.144995664A>G	(Likely) benign	1 lab	610381a4de
17:29557279 NF1 T>G	17	29557279	29557279	T	G	NF1	c.2992T>G	NM_000267.3	NP_000258.1:p.(Tyr998Asp)	NC_000017.10:g.29557279T>G	VUS	1 lab	61087e8fa1
X:129206310 ELF4 G>A	X	129206310	129206310	G	A	ELF4	c.423C>T	NM_001421.3	NP_001412.1:p.(Pro141=)	NC_000023.10:g.129206310G>A	(Likely) benign	1 lab	6108ad58b9
16:30675710 FBRS C>T	16	30675710	30675710	C	T	FBRS	c.1230C>T	NM_001105079.3	NP_001098549.2:p.(Pro410=)	NC_000016.9:g.30675710C>T	(Likely) benign	1 lab	61090a8e7b
6:131277210 EPB41L2 A>G	6	131277210	131277210	A	G	EPB41L2	c.416T>C	NM_001350299.1	NP_001337228.1:p.(Ile139Thr)	NC_000006.11:g.131277210A>G	VUS	1 lab	61093babf9
15:73345070 NEO1 C>T	15	73345070	73345070	C	T	NEO1	c.54C>T	NM_002499.3	NP_002490.2:p.(Leu18=)	NC_000015.9:g.73345070C>T	(Likely) benign	1 lab	610973dafe
3:48507964 ATRIP C>A	3	48507964	48507964	C	A	ATRIP	c.*1011C>A	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507964C>A	(Likely) benign	1 lab	6109b3800b
5:80024688 MSH3 G>GC	5	80024688	80024689	G	GC	MSH3	c.1473dup	NM_002439.4	NP_002430.3:p.(Ile492HisfsTer3)	NC_000005.9:g.80024689dup	(Likely) pathogenic	1 lab	6109ef84a3
22:30688623 TBC1D10A G>A	22	30688623	30688623	G	A	TBC1D10A	c.1289C>T	NM_001204240.1	NP_001191169.1:p.(Ala430Val)	NC_000022.10:g.30688623G>A	(Likely) benign	1 lab	610a5a7d9b
17:1399658 INPP5K G>A	17	1399658	1399658	G	A	INPP5K	c.912C>T	NM_001135642.1	NP_001129114.1:p.(Ala304=)	NC_000017.10:g.1399658G>A	(Likely) benign	1 lab	610c44ce23
X:53438846 SMC1A C>T	X	53438846	53438846	C	T	SMC1A	c.1053G>A	NM_001281463.1	NP_001268392.1:p.(Lys351=)	NC_000023.10:g.53438846C>T	(Likely) benign	1 lab	6110600ead
9:140127237 SLC34A3 C>T	9	140127237	140127237	C	T	SLC34A3	c.306C>T	NM_001177317.1	NP_001170788.1:p.(Ser102=)	NC_000009.11:g.140127237C>T	(Likely) benign	1 lab	61119e03c9
3:16254177 GALNT15 C>A	3	16254177	16254177	C	A	GALNT15	c.1299C>A	NM_054110.5	NP_473451.3:p.(Thr433=)	NC_000003.11:g.16254177C>A	(Likely) benign	1 lab	611237201e
15:77067334 SCAPER A>C	15	77067334	77067334	A	C	SCAPER	c.897T>G	NM_001353009.1	NP_001339938.1:p.(Asp299Glu)	NC_000015.9:g.77067334A>C	(Likely) benign	1 lab	6112c7c465
3:58132706 FLNB C>T	3	58132706	58132706	C	T	FLNB	c.5807C>T	NM_001164317.1	NP_001157789.1:p.(Thr1936Ile)	NC_000003.11:g.58132706C>T	VUS	1 lab	61135b26ed
16:28947509 CD19 G>A	16	28947509	28947509	G	A	CD19	c.982G>A	NM_001178098.1	NP_001171569.1:p.(Asp328Asn)	NC_000016.9:g.28947509G>A	VUS	1 lab	611433e393
19:14041206 CC2D1A T>G	19	14041206	14041206	T	G	CC2D1A	c.2854T>G	NM_017721.4	NP_060191.3:p.(Ter952GlyextTer117)	NC_000019.9:g.14041206T>G	VUS	1 lab	6117cad9fe
10:21102862 NEBL C>T	10	21102862	21102862	C	T	NEBL	c.2346+6G>A	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21102862C>T	(Likely) benign	1 lab	6118b557c7
11:66468407 SPTBN2 G>T	11	66468407	66468407	G	T	SPTBN2	c.3163C>A	NM_006946.3	NP_008877.1:p.(Arg1055=)	NC_000011.9:g.66468407G>T	(Likely) benign	1 lab	611a4d8860
X:53672356 HUWE1 G>C	X	53672356	53672356	G	C	HUWE1	c.411C>G	NM_031407.6	NP_113584.3:p.(Leu137=)	NC_000023.10:g.53672356G>C	(Likely) benign	1 lab	611b913bb9
9:101910151 TGFBR1 ACTTTT>A	9	101910151	101910160	ACTTTT	A	TGFBR1	c.1386+90_1386+94del	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101910156_101910160del	(Likely) benign	1 lab	611c280198
9:123715080 C5 C>G	9	123715080	123715080	C	G	C5	c.4986G>C	NM_001317163.1	NP_001304092.1:p.(Ser1662=)	NC_000009.11:g.123715080C>G	(Likely) benign	1 lab	611c642e2c
17:41245311 BRCA1 T>TC	17	41245311	41245312	T	TC	BRCA1	c.2236dup	NM_007294.3	NP_009225.1:p.(Asp746GlyfsTer16)	NC_000017.10:g.41245312dup	(Likely) pathogenic	1 lab	6122309ce7
8:21905718 FGF17 C>A	8	21905718	21905718	C	A	FGF17	c.609C>A	NM_003867.3	NP_003858.1:p.(Thr203=)	NC_000008.10:g.21905718C>A	(Likely) benign	1 lab	6123173c6e
3:113379495 USF3 G>A	3	113379495	113379495	G	A	USF3	c.1034C>T	NM_001009899.3	NP_001009899.3:p.(Ser345Leu)	NC_000003.11:g.113379495G>A	VUS	1 lab	61236b4718
18:11752564 GNAL C>T	18	11752564	11752564	C	T	GNAL	c.132C>T	NM_001142339.2	NP_001135811.1:p.(Arg44=)	NC_000018.9:g.11752564C>T	(Likely) benign	1 lab	6123d44e60
5:89989857 ADGRV1 T>C	5	89989857	89989857	T	C	ADGRV1	c.7284T>C	NM_032119.4	NP_115495.3:p.(Asn2428=)	NC_000005.9:g.89989857T>C	(Likely) benign	1 lab	6124145003
1:44423944 IPO13 C>T	1	44423944	44423944	C	T	IPO13	c.1749+4C>T	NM_014652.4	NP_055467.3:p.?	NC_000001.10:g.44423944C>T	VUS	1 lab	6124f1d80a
17:76993517 CANT1 C>T	17	76993517	76993517	C	T	CANT1	c.188G>A	NM_138793.3	NP_620148.1:p.(Arg63His)	NC_000017.10:g.76993517C>T	(Likely) benign	1 lab	61262e0e93
17:3989907 ZZEF1 C>T	17	3989907	3989907	C	T	ZZEF1	c.2385G>A	NM_015113.4	NP_055928.3:p.(Gln795=)	NC_000017.10:g.3989907C>T	(Likely) benign	1 lab	612665d2d8
6:24847883 RIPOR2 G>A	6	24847883	24847883	G	A	RIPOR2	c.1114C>T	NM_014722.4	NP_055537.2:p.(Leu372=)	NC_000006.11:g.24847883G>A	(Likely) benign	1 lab	612789b4f7
2:29444076 ALK G>T	2	29444076	29444076	G	T	ALK	c.3516-375C>A	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29444076G>T	(Likely) benign	1 lab	f3be84c613
12:113354342 OAS1 C>T	12	113354342	113354342	C	T	OAS1	c.683C>T	NM_016816.4	NP_058132.2:p.(Pro228Leu)	NC_000012.11:g.113354342C>T	VUS	1 lab	f3beb99f22
16:1841546 IGFALS G>GC	16	1841546	1841549	G	GC	IGFALS	c.986dup	NM_001146006.1	NP_001139478.1:p.(Leu330ProfsTer40)	NC_000016.9:g.1841549dup	VUS	1 lab	6127f4f0be
14:104644164 KIF26A T>C	14	104644164	104644164	T	C	KIF26A	c.5039T>C	NM_015656.1	NP_056471.1:p.(Met1680Thr)	NC_000014.8:g.104644164T>C	VUS	1 lab	61281c24af
19:9065465 MUC16 C>T	19	9065465	9065465	C	T	MUC16	c.21981G>A	NM_024690.2	NP_078966.2:p.(Lys7327=)	NC_000019.9:g.9065465C>T	(Likely) benign	1 lab	6128ef8784
7:127013992 ZNF800 T>G	7	127013992	127013992	T	G	ZNF800	c.1398A>C	NM_176814.5	NP_789784.2:p.(Ala466=)	NC_000007.13:g.127013992T>G	(Likely) benign	1 lab	6128f41f18
8:41550195 ANK1 C>T	8	41550195	41550195	C	T	ANK1	c.3952G>A	NM_001142446.1	NP_001135918.1:p.(Val1318Met)	NC_000008.10:g.41550195C>T	(Likely) benign	1 lab	612abb5347
2:152492763 NEB G>A	2	152492763	152492763	G	A	NEB	c.9080C>T	NM_001271208.1	NP_001258137.1:p.(Ala3027Val)	NC_000002.11:g.152492763G>A	VUS	1 lab	612afd7166
17:3561448 CTNS G>A	17	3561448	3561448	G	A	CTNS	c.831G>A	NM_004937.2	NP_004928.2:p.(Thr277=)	NC_000017.10:g.3561448G>A	(Likely) benign	1 lab	612e0e53c8
2:15701428 NBAS T>C	2	15701428	15701428	T	C	NBAS	c.1A>G	NM_015909.3	NP_056993.2:p.(Met1?)	NC_000002.11:g.15701428T>C	(Likely) pathogenic	1 lab	612ea36f66
1:989346 AGRN C>T	1	989346	989346	C	T	AGRN				NC_000001.10:g.989346C>T	(Likely) benign	1 lab	612fce8b5a
10:78761266 KCNMA1 G>A	10	78761266	78761266	G	A	KCNMA1	c.2165C>T	NM_001161352.2	NP_001154824.1:p.(Ser722Leu)	NC_000010.10:g.78761266G>A	(Likely) benign	1 lab	6130518152
11:44255697 EXT2 T>A	11	44255697	44255697	T	A	EXT2	c.1869T>A	NM_001178083.1	NP_001171554.1:p.(Pro623=)	NC_000011.9:g.44255697T>A	(Likely) benign	1 lab	6132ee95a4
15:40917186 KNL1 A>G	15	40917186	40917186	A	G	KNL1	c.4802A>G	NM_170589.4	NP_733468.3:p.(Gln1601Arg)	NC_000015.9:g.40917186A>G	(Likely) benign	1 lab	6133436f6b
19:42753743 ERF G>A	19	42753743	42753743	G	A	ERF	c.521C>T	NM_006494.3	NP_006485.2:p.(Ser174Leu)	NC_000019.9:g.42753743G>A	VUS	1 lab	6133afc159
16:1639613 IFT140 ACTT>A	16	1639613	1639621	ACTT	A	IFT140	c.800_802del	NM_014714.4	NP_055529.2:p.(Glu267del)	NC_000016.9:g.1639619_1639621del	(Likely) pathogenic	1 lab	613474206a
17:29587421 NF1 A>G	17	29587421	29587421	A	G	NF1	c.4402A>G	NM_000267.3	NP_000258.1:p.(Ser1468Gly)	NC_000017.10:g.29587421A>G	(Likely) pathogenic	1 lab	613535c7a3
5:178413273 GRM6 G>A	5	178413273	178413273	G	A	GRM6	c.1982C>T	NM_000843.4	NP_000834.2:p.(Thr661Met)	NC_000005.9:g.178413273G>A	VUS	1 lab	61369e889a
9:2639898 VLDLR A>G	9	2639898	2639898	A	G	VLDLR	c.242A>G	NM_003383.4	NP_003374.3:p.(Asn81Ser)	NC_000009.11:g.2639898A>G	(Likely) benign	1 lab	613765514d
15:90191539 KIF7 T>C	15	90191539	90191539	T	C	KIF7	c.1390A>G	NM_198525.2	NP_940927.2:p.(Ile464Val)	NC_000015.9:g.90191539T>C	VUS	1 lab	6138acb63e
X:32563365 DMD C>A	X	32563365	32563365	C	A	DMD	c.1710G>T	NM_004010.3	NP_004001.1:p.(Gln570His)	NC_000023.10:g.32563365C>A	VUS	1 lab	6138cf331d
16:50825601 CYLD G>C	16	50825601	50825601	G	C	CYLD	c.2241G>C	NM_015247.2	NP_056062.1:p.(Glu747Asp)	NC_000016.9:g.50825601G>C	VUS	1 lab	6139bd55c3
12:103246590 PAH C>T	12	103246590	103246590	C	T	PAH	c.842+3G>A	NM_001354304.1	NP_001341233.1:p.?	NC_000012.11:g.103246590C>T	(Likely) benign	1 lab	613a8dc5cd
19:7712287 STXBP2 G>C	19	7712287	7712287	G	C	STXBP2	c.1619G>C	NM_001272034.2	NP_001258963.1:p.(Arg540Pro)	NC_000019.9:g.7712287G>C	VUS	1 lab	f3c05107ac
11:63487069 RTN3 T>C	11	63487069	63487069	T	C	RTN3	c.1095T>C	NM_001265589.1	NP_001252518.1:p.(Leu365=)	NC_000011.9:g.63487069T>C	(Likely) benign	1 lab	613bbae952
2:79253863 REG3G C>T	2	79253863	79253863	C	T	REG3G	c.101C>T	NM_001008387.3	NP_001008388.1:p.(Pro34Leu)	NC_000002.11:g.79253863C>T	(Likely) benign	1 lab	613d045725
20:47991151 KCNB1 C>T	20	47991151	47991151	C	T	KCNB1	c.946G>A	NM_004975.4	NP_004966.1:p.(Gly316Ser)	NC_000020.10:g.47991151C>T	(Likely) pathogenic	1 lab	f3c32884e1
9:139751276 MAMDC4 A>G	9	139751276	139751276	A	G	MAMDC4	c.1835A>G	NM_206920.3	NP_996803.2:p.(Gln612Arg)	NC_000009.11:g.139751276A>G	(Likely) benign	1 lab	613e2b88a7
15:62174824 VPS13C T>C	15	62174824	62174824	T	C	VPS13C	c.9595A>G	NM_001018088.2	NP_001018098.1:p.(Ser3199Gly)	NC_000015.9:g.62174824T>C	VUS	1 lab	6141fd4ce6
9:98239083 PTCH1 G>A	9	98239083	98239083	G	A	PTCH1	c.1362C>T	NM_001083602.1	NP_001077071.1:p.(His454=)	NC_000009.11:g.98239083G>A	(Likely) benign	1 lab	614257a43b
1:23357078 KDM1A T>A	1	23357078	23357078	T	A	KDM1A	c.468T>A	NM_001009999.2	NP_001009999.1:p.(Pro156=)	NC_000001.10:g.23357078T>A	(Likely) benign	1 lab	6145fc4061
15:28370299 HERC2 C>T	15	28370299	28370299	C	T	HERC2	c.12843G>A	NM_004667.5	NP_004658.3:p.(Leu4281=)	NC_000015.9:g.28370299C>T	(Likely) benign	1 lab	6146935c82
1:237811774 RYR2 C>T	1	237811774	237811774	C	T	RYR2	c.7373C>T	NM_001035.2	NP_001026.2:p.(Ala2458Val)	NC_000001.10:g.237811774C>T	VUS	1 lab	614ae03d31
14:99640890 BCL11B G>A	14	99640890	99640890	G	A	BCL11B	c.2283C>T	NM_138576.3	NP_612808.1:p.(Asp761=)	NC_000014.8:g.99640890G>A	(Likely) benign	1 lab	614bbb5fb4
3:93755416 ARL13B G>A	3	93755416	93755416	G	A	ARL13B	c.507G>A	NM_001174150.1	NP_001167621.1:p.(Ser169=)	NC_000003.11:g.93755416G>A	(Likely) benign	1 lab	614c098007
17:29657435 NF1 AT>A	17	29657435	29657437	AT	A	NF1	c.5733del	NM_001042492.3	NP_001035957.1:p.(Ser1912ValfsTer13)	NC_000017.10:g.29657437del	(Likely) pathogenic	1 lab	614c0f9d3d
9:134385416 POMT1 G>A	9	134385416	134385416	G	A	POMT1	c.732G>A	NM_007171.3	NP_009102.3:p.(Pro244=)	NC_000009.11:g.134385416G>A	(Likely) benign	1 lab	614d1648bd
7:100641376 MUC12 C>T	7	100641376	100641376	C	T	MUC12	c.7532C>T	NM_001164462.1	NP_001157934.1:p.(Thr2511Ile)	NC_000007.13:g.100641376C>T	(Likely) benign	1 lab	614f1d7861
5:61657158 KIF2A A>C	5	61657158	61657158	A	C	KIF2A	c.962A>C	NM_001098511.2	NP_001091981.1:p.(His321Pro)	NC_000005.9:g.61657158A>C	(Likely) pathogenic	1 lab	614f43adfa
17:29557944 NF1 G>T	17	29557944	29557944	G	T	NF1	c.3197+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557944G>T	(Likely) pathogenic	1 lab	614fa7a9e5
16:51173790 SALL1 C>G	16	51173790	51173790	C	G	SALL1	c.2343G>C	NM_002968.2	NP_002959.2:p.(Leu781=)	NC_000016.9:g.51173790C>G	(Likely) benign	1 lab	614ff78744
8:77895859 PEX2 C>T	8	77895859	77895859	C	T	PEX2	c.556G>A	NM_001172086.1	NP_001165557.1:p.(Val186Ile)	NC_000008.10:g.77895859C>T	(Likely) benign	1 lab	61501a070f
17:16852054 TNFRSF13B G>A	17	16852054	16852054	G	A	TNFRSF13B	c.443C>T	NM_012452.2	NP_036584.1:p.(Pro148Leu)	NC_000017.10:g.16852054G>A	VUS	1 lab	61517fe48e
2:230642153 TRIP12 G>A	2	230642153	230642153	G	A	TRIP12	c.5182C>T	NM_004238.3	NP_004229.1:p.(Arg1728Trp)	NC_000002.11:g.230642153G>A	VUS	1 lab	f3c3c1d557
17:72916611 USH1G A>G	17	72916611	72916611	A	G	USH1G	c.320T>C	NM_173477.4	NP_775748.2:p.(Met107Thr)	NC_000017.10:g.72916611A>G	VUS	1 lab	61540ede4f
4:88534411 DSPP G>C	4	88534411	88534411	G	C	DSPP	c.1073G>C	NM_014208.3	NP_055023.2:p.(Arg358Thr)	NC_000004.11:g.88534411G>C	(Likely) benign	1 lab	6154435f26
17:29556314 NF1 T>C	17	29556314	29556314	T	C	NF1	c.2681T>C	NM_000267.3	NP_000258.1:p.(Phe894Ser)	NC_000017.10:g.29556314T>C	VUS	1 lab	61547997c6
1:64643584 ROR1 T>C	1	64643584	64643584	T	C	ROR1	c.1860T>C	NM_005012.3	NP_005003.2:p.(Asn620=)	NC_000001.10:g.64643584T>C	(Likely) benign	1 lab	6154b0d711
X:91873458 PCDH11X G>A	X	91873458	91873458	G	A	PCDH11X	c.3563G>A	NM_032968.4	NP_116750.1:p.(Arg1188Gln)	NC_000023.10:g.91873458G>A	(Likely) benign	1 lab	6154b1b48f
8:140630700 KCNK9 C>G	8	140630700	140630700	C	G	KCNK9	c.926G>C	NM_001282534.1	NP_001269463.1:p.(Gly309Ala)	NC_000008.10:g.140630700C>G	(Likely) benign	1 lab	61556b2bc7
11:124746340 ROBO3 G>C	11	124746340	124746340	G	C	ROBO3	c.2763G>C	NM_022370.3	NP_071765.2:p.(Glu921Asp)	NC_000011.9:g.124746340G>C	VUS	1 lab	61565c18d0
21:46876274 COL18A1 C>A	21	46876274	46876274	C	A	COL18A1	c.830C>A	NM_130444.3	NP_569711.2:p.(Ala277Asp)	NC_000021.8:g.46876274C>A	(Likely) benign	1 lab	61570135f6
15:82520612 EFL1 C>T	15	82520612	82520612	C	T	EFL1	c.989G>A	NM_001322845.1	NP_001309774.1:p.(Arg330Gln)	NC_000015.9:g.82520612C>T	VUS	1 lab	61571bcd07
X:107929267 COL4A5 C>G	X	107929267	107929267	C	G	COL4A5	c.4223C>G	NM_033380.2	NP_203699.1:p.(Thr1408Ser)	NC_000023.10:g.107929267C>G	(Likely) benign	1 lab	6157356201
19:40327266 FBL T>G	19	40327266	40327266	T	G	FBL	c.725A>C	NM_001436.4	NP_001427.2:p.(Gln242Pro)	NC_000019.9:g.40327266T>G	VUS	1 lab	61581deaef
1:213056747 FLVCR1 G>A	1	213056747	213056747	G	A	FLVCR1	c.1059G>A	NM_014053.3	NP_054772.1:p.(Thr353=)	NC_000001.10:g.213056747G>A	(Likely) benign	1 lab	615a2269f5
2:73635756 ALMS1 C>G	2	73635756	73635756	C	G	ALMS1	c.334C>G	NM_015120.4	NP_055935.4:p.(Pro112Ala)	NC_000002.11:g.73635756C>G	VUS	1 lab	615a25d2e9
7:150752640 CDK5 G>A	7	150752640	150752640	G	A	CDK5	c.462C>T	NM_004935.3	NP_004926.1:p.(Pro154=)	NC_000007.13:g.150752640G>A	(Likely) benign	1 lab	615a533949
1:155340435 MISSING C>T	1	155340435	155340435	C	T	MISSING				NC_000001.10:g.155340435C>T	(Likely) benign	1 lab	7307f73dfe
16:21847092 NPIPB4 G>A	16	21847092	21847092	G	A	NPIPB4	c.2616C>T	NM_001310148.1	NP_001297077.1:p.(Ala872=)	NC_000016.9:g.21847092G>A	(Likely) benign	1 lab	615a9f8592
17:17700700 RAI1 A>G	17	17700700	17700700	A	G	RAI1	c.4438A>G	NM_030665.3	NP_109590.3:p.(Arg1480Gly)	NC_000017.10:g.17700700A>G	VUS	1 lab	615bf07cf5
7:146825877 CNTNAP2 C>T	7	146825877	146825877	C	T	CNTNAP2	c.1032C>T	NM_014141.5	NP_054860.1:p.(Gly344=)	NC_000007.13:g.146825877C>T	(Likely) benign	1 lab	615cbafea5
7:91864730 KRIT1 TGAA>T	7	91864730	91864735	TGAA	T	KRIT1	c.713_715del	NM_194454.3	NP_919436.1:p.(Leu238del)	NC_000007.13:g.91864733_91864735del	VUS	1 lab	615e8a69b2
2:179470047 TTN C>A	2	179470047	179470047	C	A	TTN	c.53882-25G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179470047C>A	(Likely) benign	1 lab	61610a348f
17:29587451 NF1 A>G	17	29587451	29587451	A	G	NF1	c.4432A>G	NM_000267.3	NP_000258.1:p.(Ile1478Val)	NC_000017.10:g.29587451A>G	(Likely) benign	1 lab	616146efb7
6:162206837 PRKN C>T	6	162206837	162206837	C	T	PRKN	c.838G>A	NM_004562.2	NP_004553.2:p.(Asp280Asn)	NC_000006.11:g.162206837C>T	(Likely) benign	1 lab	6162fa23fd
7:4823396 AP5Z1 C>T	7	4823396	4823396	C	T	AP5Z1	c.588C>T	NM_014855.3	NP_055670.1:p.(Ser196=)	NC_000007.13:g.4823396C>T	(Likely) benign	1 lab	6164eb5650
4:151207116 LRBA C>T	4	151207116	151207116	C	T	LRBA	c.8085G>A	NM_001199282.2	NP_001186211.2:p.(Ala2695=)	NC_000004.11:g.151207116C>T	(Likely) benign	1 lab	61657124f2
15:84611716 ADAMTSL3 C>T	15	84611716	84611716	C	T	ADAMTSL3	c.2372C>T	NM_207517.3	NP_997400.2:p.(Thr791Met)	NC_000015.9:g.84611716C>T	VUS	1 lab	6168f56fa9
12:57969886 KIF5A G>A	12	57969886	57969886	G	A	KIF5A	c.2040G>A	NM_004984.3	NP_004975.2:p.(Val680=)	NC_000012.11:g.57969886G>A	(Likely) benign	1 lab	61694f4581
4:126412659 FAT4 C>T	4	126412659	126412659	C	T	FAT4	c.14688C>T	NM_001291303.1	NP_001278232.1:p.(His4896=)	NC_000004.11:g.126412659C>T	(Likely) benign	1 lab	616a5493af
6:57025891 ZNF451 G>A	6	57025891	57025891	G	A	ZNF451	c.3080G>A	NM_001031623.3	NP_001026794.1:p.(Ser1027Asn)	NC_000006.11:g.57025891G>A	VUS	1 lab	616cecf4f8
2:179632620 TTN G>A	2	179632620	179632620	G	A	TTN	c.9337C>T	NM_001267550.1	NP_001254479.1:p.(Arg3113Cys)	NC_000002.11:g.179632620G>A	VUS	1 lab	616d6bf30d
20:57415289 GNAS G>A	20	57415289	57415289	G	A	GNAS	c.128G>A	NM_016592.3	NP_057676.1:p.(Arg43His)	NC_000020.10:g.57415289G>A	VUS	1 lab	616e20c8a2
3:97605558 CRYBG3 T>A	3	97605558	97605558	T	A	CRYBG3	c.7236T>A	NM_153605.4	NP_705833.3:p.(Asn2412Lys)	NC_000003.11:g.97605558T>A	VUS	1 lab	616eb10d85
6:7576522 DSP C>T	6	7576522	7576522	C	T	DSP	c.2631-5C>T	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7576522C>T	(Likely) benign	1 lab	616fceae8e
10:112544669 RBM20 C>G	10	112544669	112544669	C	G	RBM20	c.1527+22C>G	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112544669C>G	(Likely) benign	1 lab	61719ab910
1:16459742 EPHA2 G>C	1	16459742	16459742	G	C	EPHA2	c.1986C>G	NM_004431.4	NP_004422.2:p.(Gly662=)	NC_000001.10:g.16459742G>C	(Likely) benign	1 lab	6172504519
2:88870390 EIF2AK3 A>AC	2	88870390	88870392	A	AC	EIF2AK3	c.2985+1dup	NM_004836.6	NP_004827.4:p.?	NC_000002.11:g.88870392dup	(Likely) pathogenic	1 lab	6175a2cc14
17:11593058 DNAH9 G>A	17	11593058	11593058	G	A	DNAH9	c.3919G>A	NM_001372.3	NP_001363.2:p.(Asp1307Asn)	NC_000017.10:g.11593058G>A	VUS	1 lab	6175ad5e18
17:40370239 STAT5B G>T	17	40370239	40370239	G	T	STAT5B	c.1099C>A	NM_012448.3	NP_036580.2:p.(Pro367Thr)	NC_000017.10:g.40370239G>T	VUS	1 lab	617830c25b
22:50659082 TUBGCP6 G>A	22	50659082	50659082	G	A	TUBGCP6	c.3706C>T	NM_020461.3	NP_065194.2:p.(Arg1236Trp)	NC_000022.10:g.50659082G>A	(Likely) benign	1 lab	6178bb886e
3:141162710 ZBTB38 A>C	3	141162710	141162710	A	C	ZBTB38	c.1480A>C	NM_001080412.2	NP_001073881.2:p.(Asn494His)	NC_000003.11:g.141162710A>C	VUS	1 lab	6178e2610b
X:150885846 FATE1 T>C	X	150885846	150885846	T	C	FATE1	c.209T>C	NM_033085.2	NP_149076.1:p.(Met70Thr)	NC_000023.10:g.150885846T>C	(Likely) benign	1 lab	61791d3d79
11:17121515 PIK3C2A A>G	11	17121515	17121515	A	G	PIK3C2A	c.4010T>C	NM_001321378.1	NP_001308307.1:p.(Met1337Thr)	NC_000011.9:g.17121515A>G	VUS	1 lab	61795e1b02
11:2436201 TRPM5 C>T	11	2436201	2436201	C	T	TRPM5	c.1556G>A	NM_014555.3	NP_055370.1:p.(Arg519Gln)	NC_000011.9:g.2436201C>T	VUS	1 lab	6179e81d14
17:48435648 XYLT2 C>T	17	48435648	48435648	C	T	XYLT2	c.2022C>T	NM_022167.3	NP_071450.2:p.(Ala674=)	NC_000017.10:g.48435648C>T	(Likely) benign	1 lab	617b385e2e
19:50365848 PNKP C>T	19	50365848	50365848	C	T	PNKP	c.883G>A	NM_007254.3	NP_009185.2:p.(Ala295Thr)	NC_000019.9:g.50365848C>T	VUS	1 lab	617ce14135
17:11778463 DNAH9 T>C	17	11778463	11778463	T	C	DNAH9	c.10440T>C	NM_001372.3	NP_001363.2:p.(Tyr3480=)	NC_000017.10:g.11778463T>C	(Likely) benign	1 lab	617cfc7c2e
X:40560494 MED14 G>A	X	40560494	40560494	G	A	MED14	c.1413C>T	NM_004229.3	NP_004220.2:p.(Asp471=)	NC_000023.10:g.40560494G>A	(Likely) benign	1 lab	617e5233ba
15:71146260 LARP6 G>T	15	71146260	71146260	G	T	LARP6	c.168C>A	NM_018357.3	NP_060827.2:p.(Ser56Arg)	NC_000015.9:g.71146260G>T	VUS	1 lab	61804c409f
20:8722141 PLCB1 G>A	20	8722141	8722141	G	A	PLCB1	c.2444G>A	NM_182734.2	NP_877398.1:p.(Arg815Gln)	NC_000020.10:g.8722141G>A	VUS	1 lab	6180c2e4ad
3:43607156 ANO10 G>C	3	43607156	43607156	G	C	ANO10	c.1282C>G	NM_001204831.2	NP_001191760.1:p.(Leu428Val)	NC_000003.11:g.43607156G>C	VUS	1 lab	618101ffaa
17:7748211 KDM6B C>T	17	7748211	7748211	C	T	KDM6B	c.-268-8C>T	NM_001080424.2	NP_001073893.1:p.?	NC_000017.10:g.7748211C>T	(Likely) benign	1 lab	6183980f71
9:134398393 POMT1 C>T	9	134398393	134398393	C	T	POMT1	c.1982C>T	NM_001353198.1	NP_001340127.1:p.(Thr661Met)	NC_000009.11:g.134398393C>T	VUS	1 lab	6183bd63f9
6:26197247 H3C4 C>T	6	26197247	26197247	C	T	H3C4	c.232G>A	NM_003530.4	NP_003521.2:p.(Asp78Asn)	NC_000006.11:g.26197247C>T	VUS	1 lab	61852bc8cd
1:233463898 MAP3K21 C>T	1	233463898	233463898	C	T	MAP3K21	c.124C>T	NM_032435.3	NP_115811.2:p.(Leu42=)	NC_000001.10:g.233463898C>T	(Likely) benign	1 lab	61855f353c
X:16189386 MAGEB17 A>G	X	16189386	16189386	A	G	MAGEB17	c.881A>G	NM_001277307.1	NP_001264236.1:p.(Asn294Ser)	NC_000023.10:g.16189386A>G	(Likely) benign	1 lab	6185fc2104
1:33478832 AK2 G>A	1	33478832	33478832	G	A	AK2	c.526C>T	NM_001319139.1	NP_001306068.1:p.(Leu176=)	NC_000001.10:g.33478832G>A	(Likely) benign	1 lab	618790e177
3:69788786 MITF T>C	3	69788786	69788786	T	C	MITF	c.38T>C	NM_198159.2	NP_937802.1:p.(Val13Ala)	NC_000003.11:g.69788786T>C	(Likely) benign	1 lab	6187bea9d4
2:171264285 MYO3B G>A	2	171264285	171264285	G	A	MYO3B	c.2581G>A	NM_138995.4	NP_620482.3:p.(Val861Ile)	NC_000002.11:g.171264285G>A	(Likely) benign	1 lab	61888d3069
X:77245246 ATP7A A>C	X	77245246	77245246	A	C	ATP7A	c.1128A>C	NM_000052.6	NP_000043.4:p.(Thr376=)	NC_000023.10:g.77245246A>C	(Likely) benign	1 lab	618bb45ca1
2:241535795 CAPN10 C>T	2	241535795	241535795	C	T	CAPN10	c.1338C>T	NM_023083.3	NP_075571.1:p.(Thr446=)	NC_000002.11:g.241535795C>T	(Likely) benign	1 lab	618bdab323
9:14747039 FREM1 G>A	9	14747039	14747039	G	A	FREM1	c.6020C>T	NM_144966.5	NP_659403.4:p.(Pro2007Leu)	NC_000009.11:g.14747039G>A	VUS	1 lab	618c3ec8b5
1:196965144 CFHR5 T>A	1	196965144	196965144	T	A	CFHR5	c.791-8T>A	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196965144T>A	(Likely) benign	1 lab	618feea475
7:92732104 SAMD9 G>C	7	92732104	92732104	G	C	SAMD9	c.3307C>G	NM_017654.3	NP_060124.2:p.(Leu1103Val)	NC_000007.13:g.92732104G>C	VUS	1 lab	619022c3ea
1:152277662 FLG A>T	1	152277662	152277662	A	T	FLG	c.9700T>A	NM_002016.1	NP_002007.1:p.(Ser3234Thr)	NC_000001.10:g.152277662A>T	VUS	1 lab	6190a45991
17:17698711 RAI1 G>A	17	17698711	17698711	G	A	RAI1	c.2449G>A	NM_030665.3	NP_109590.3:p.(Gly817Arg)	NC_000017.10:g.17698711G>A	VUS	1 lab	6191c62b6f
3:180365043 CCDC39 T>TA	3	180365043	180365054	T	TA	CCDC39	c.1363-13dup	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180365054dup	(Likely) benign	1 lab	6193940ccd
8:102582590 GRHL2 G>A	8	102582590	102582590	G	A	GRHL2	c.702G>A	NM_024915.3	NP_079191.2:p.(Gly234=)	NC_000008.10:g.102582590G>A	(Likely) benign	1 lab	61940699f1
9:123152042 CDK5RAP2 G>A	9	123152042	123152042	G	A	CDK5RAP2	c.5602C>T	NM_018249.5	NP_060719.4:p.(Arg1868Trp)	NC_000009.11:g.123152042G>A	VUS	1 lab	6195574eb6
19:3979312 EEF2 T>C	19	3979312	3979312	T	C	EEF2	c.1713+15A>G	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3979312T>C	(Likely) benign	1 lab	619a31a46d
15:48780352 FBN1 C>T	15	48780352	48780352	C	T	FBN1	c.3295G>A	NM_000138.4	NP_000129.3:p.(Glu1099Lys)	NC_000015.9:g.48780352C>T	VUS	1 lab	619abe725c
17:78091443 GAA TC>T	17	78091443	78091447	TC	T	GAA	c.2380del	NM_000152.5	NP_000143.2:p.(Arg794ValfsTer12)	NC_000017.10:g.78091447del	(Likely) pathogenic	1 lab	619bc4f103
X:54224798 WNK3 A>G	X	54224798	54224798	A	G	WNK3	c.5362T>C	NM_020922.4	NP_065973.2:p.(Ser1788Pro)	NC_000023.10:g.54224798A>G	(Likely) benign	1 lab	619d2148ad
21:47855876 PCNT A>G	21	47855876	47855876	A	G	PCNT	c.8811A>G	NM_006031.5	NP_006022.3:p.(Thr2937=)	NC_000021.8:g.47855876A>G	(Likely) benign	1 lab	619de30790
11:1272347 MUC5B C>T	11	1272347	1272347	C	T	MUC5B	c.14237C>T	NM_002458.2	NP_002449.2:p.(Thr4746Ile)	NC_000011.9:g.1272347C>T	(Likely) benign	1 lab	619f9d14a0
15:87066107 AGBL1 GCCAA>G	15	87066107	87066114	GCCAA	G	AGBL1	c.2626_2629del	NM_001386094.1	NP_001373023.1:p.(Thr876PhefsTer11)	NC_000015.9:g.87066111_87066114del	(Likely) pathogenic	1 lab	61a0668f11
1:205901061 SLC26A9 A>G	1	205901061	205901061	A	G	SLC26A9	c.479T>C	NM_052934.4	NP_443166.1:p.(Val160Ala)	NC_000001.10:g.205901061A>G	VUS	1 lab	61a0a0ac58
2:85024693 DNAH6 C>T	2	85024693	85024693	C	T	DNAH6	c.11392C>T	NM_001370.1	NP_001361.1:p.(Gln3798Ter)	NC_000002.11:g.85024693C>T	VUS	1 lab	61a4761287
10:105815637 COL17A1 C>T	10	105815637	105815637	C	T	COL17A1	c.1590G>A	NM_000494.4	NP_000485.3:p.(Ala530=)	NC_000010.10:g.105815637C>T	(Likely) benign	1 lab	61a4c6f9e8
16:2107199 TSC2 C>T	16	2107199	2107199	C	T	TSC2	c.848+20C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2107199C>T	(Likely) benign	1 lab	61a7c31bc7
16:88495134 ZNF469 G>C	16	88495134	88495134	G	C	ZNF469				NC_000016.9:g.88495134G>C	(Likely) benign	1 lab	61a8a3c398
4:68938081 TMPRSS11F T>C	4	68938081	68938081	T	C	TMPRSS11F	c.474A>G	NM_207407.2	NP_997290.2:p.(Gln158=)	NC_000004.11:g.68938081T>C	(Likely) benign	1 lab	61aa41bca8
X:8699999 ANOS1 G>C	X	8699999	8699999	G	C	ANOS1	c.79C>G	NM_000216.3	NP_000207.2:p.(Pro27Ala)	NC_000023.10:g.8699999G>C	(Likely) benign	1 lab	61aaa9ee00
1:100602603 TRMT13 C>A	1	100602603	100602603	C	A	TRMT13	c.223C>A	NM_019083.2	NP_061956.2:p.(His75Asn)	NC_000001.10:g.100602603C>A	VUS	1 lab	61ab7f523e
6:7542142 DSP C>T	6	7542142	7542142	C	T	DSP	c.-7C>T	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7542142C>T	VUS	1 lab	61accc3008
15:57554407 TCF12 G>T	15	57554407	57554407	G	T	TCF12	c.1582+1G>T	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57554407G>T	(Likely) pathogenic	1 lab	61ad0715cf
13:103718472 SLC10A2 G>A	13	103718472	103718472	G	A	SLC10A2	c.128C>T	NM_000452.2	NP_000443.1:p.(Ala43Val)	NC_000013.10:g.103718472G>A	VUS	1 lab	61ad8538a6
17:36093798 HNF1B G>A	17	36093798	36093798	G	A	HNF1B	c.561C>T	NM_000458.3	NP_000449.1:p.(Val187=)	NC_000017.10:g.36093798G>A	(Likely) benign	1 lab	61ade17398
10:89473088 PAPSS2 A>AAAAG	10	89473088	89473092	A	AAAAG	PAPSS2	c.381+22_381+25dup	NM_001015880.1	NP_001015880.1:p.?	NC_000010.10:g.89473089_89473092dup	(Likely) benign	1 lab	61ae69065c
9:141015126 CACNA1B G>A	9	141015126	141015126	G	A	CACNA1B	c.6282G>A	NM_000718.3	NP_000709.1:p.(Gly2094=)	NC_000009.11:g.141015126G>A	(Likely) benign	1 lab	61af3dc892
17:72860400 FDXR G>A	17	72860400	72860400	G	A	FDXR	c.1001C>T	NM_001258012.3	NP_001244941.2:p.(Ala334Val)	NC_000017.10:g.72860400G>A	(Likely) benign	1 lab	61af5bcd02
X:70375201 NLGN3 G>A	X	70375201	70375201	G	A	NLGN3	c.715G>A	NM_181303.1	NP_851820.1:p.(Val239Ile)	NC_000023.10:g.70375201G>A	VUS	1 lab	61b0566b96
11:101985061 YAP1 G>A	11	101985061	101985061	G	A	YAP1	c.508G>A	NM_001282101.1	NP_001269030.1:p.(Asp170Asn)	NC_000011.9:g.101985061G>A	VUS	1 lab	61b118ecd9
19:13419335 CACNA1A A>G	19	13419335	13419335	A	G	CACNA1A	c.1679T>C	NM_023035.2	NP_075461.2:p.(Ile560Thr)	NC_000019.9:g.13419335A>G	(Likely) benign	1 lab	61b1a4fa31
17:74475874 RHBDF2 C>T	17	74475874	74475874	C	T	RHBDF2	c.300G>A	NM_024599.5	NP_078875.4:p.(Glu100=)	NC_000017.10:g.74475874C>T	(Likely) benign	1 lab	61b1a87cc1
12:49444006 KMT2D G>A	12	49444006	49444006	G	A	KMT2D	c.3365C>T	NM_003482.3	NP_003473.3:p.(Thr1122Ile)	NC_000012.11:g.49444006G>A	(Likely) benign	1 lab	61b1ecf5b3
16:2134307 TSC2 G>GTCGTCTCC	16	2134307	2134318	G	GTCGTCTCC	TSC2	c.4088_4095dup	NM_000548.3	NP_000539.2:p.(Glu1366SerfsTer20)	NC_000016.9:g.2134311_2134318dup	(Likely) pathogenic	1 lab	61b3555da5
17:29592356 NF1 A>G	17	29592356	29592356	A	G	NF1	c.4771A>G	NM_000267.3	NP_000258.1:p.(Arg1591Gly)	NC_000017.10:g.29592356A>G	(Likely) pathogenic	1 lab	61b511e714
X:110644241 DCX GT>G	X	110644241	110644247	GT	G	DCX	c.681del	NM_001195553.2	NP_001182482.1:p.(Lys227AsnfsTer10)	NC_000023.10:g.110644247del	(Likely) pathogenic	1 lab	61b5c5f405
1:223813545 MISSING C>T	1	223813545	223813545	C	T	MISSING				NC_000001.10:g.223813545C>T	VUS	1 lab	61b63561a8
10:124909461 HMX2 C>T	10	124909461	124909461	C	T	HMX2	c.644C>T	NM_005519.1	NP_005510.1:p.(Ala215Val)	NC_000010.10:g.124909461C>T	VUS	1 lab	61b8a9bb5b
1:7797426 CAMTA1 AG>A	1	7797426	7797428	AG	A	CAMTA1	c.3456del	NM_015215.4	NP_056030.1:p.(Arg1152SerfsTer6)	NC_000001.10:g.7797428del	(Likely) pathogenic	1 lab	61b8b00b9e
17:29657352 NF1 CC>A	17	29657352	29657353	CC	A	NF1	c.5585_5586delinsA	NM_000267.3	NP_000258.1:p.(Thr1862AsnfsTer4)	NC_000017.10:g.29657352_29657353delinsA	(Likely) pathogenic	1 lab	61b9b274b3
10:71662609 COL13A1 C>T	10	71662609	71662609	C	T	COL13A1	c.886C>T	NM_001130103.1	NP_001123575.1:p.(Pro296Ser)	NC_000010.10:g.71662609C>T	VUS	1 lab	61bfdff966
1:43898697 SZT2 T>C	1	43898697	43898697	T	C	SZT2	c.5640T>C	NM_001365999.1	NP_001352928.1:p.(Gly1880=)	NC_000001.10:g.43898697T>C	(Likely) benign	1 lab	61c251e525
15:68521874 CLN6 C>T	15	68521874	68521874	C	T	CLN6	c.49G>A	NM_017882.2	NP_060352.1:p.(Gly17Ser)	NC_000015.9:g.68521874C>T	(Likely) benign	1 lab	61c2eae0f7
2:179510636 TTN G>A	2	179510636	179510636	G	A	TTN	c.40408+11C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179510636G>A	(Likely) benign	1 lab	61c35729c3
11:102479768 MMP20 G>A	11	102479768	102479768	G	A	MMP20	c.711C>T	NM_004771.3	NP_004762.2:p.(Ser237=)	NC_000011.9:g.102479768G>A	(Likely) benign	1 lab	61c76d41a0
4:151207180 LRBA G>A	4	151207180	151207180	G	A	LRBA	c.8021C>T	NM_001199282.2	NP_001186211.2:p.(Thr2674Ile)	NC_000004.11:g.151207180G>A	(Likely) benign	1 lab	61c8adaf4f
17:36709027 SRCIN1 C>T	17	36709027	36709027	C	T	SRCIN1	c.2266G>A	NM_025248.3	NP_079524.2:p.(Gly756Ser)	NC_000017.10:g.36709027C>T	VUS	1 lab	61ca889f4a
15:32738032 GOLGA8O C>T	15	32738032	32738032	C	T	GOLGA8O	c.1436G>A	NM_001277308.1	NP_001264237.1:p.(Arg479His)	NC_000015.9:g.32738032C>T	VUS	1 lab	61cb1a4515
X:153184440 ARHGAP4 C>T	X	153184440	153184440	C	T	ARHGAP4	c.998G>A	NM_001164741.1	NP_001158213.1:p.(Arg333His)	NC_000023.10:g.153184440C>T	VUS	1 lab	61cc66645e
19:36210835 KMT2B C>T	19	36210835	36210835	C	T	KMT2B	c.586C>T	NM_014727.2	NP_055542.1:p.(Leu196Phe)	NC_000019.9:g.36210835C>T	VUS	1 lab	61d0b9cbec
17:2576035 PAFAH1B1 T>G	17	2576035	2576035	T	G	PAFAH1B1	c.655T>G	NM_000430.3	NP_000421.1:p.(Trp219Gly)	NC_000017.10:g.2576035T>G	(Likely) pathogenic	1 lab	61d275a355
17:78196546 SLC26A11 C>A	17	78196546	78196546	C	A	SLC26A11	c.327C>A	NM_173626.3	NP_775897.3:p.(Ser109=)	NC_000017.10:g.78196546C>A	(Likely) benign	1 lab	61d36c7c8b
5:90021438 ADGRV1 A>G	5	90021438	90021438	A	G	ADGRV1	c.10126A>G	NM_032119.4	NP_115495.3:p.(Ile3376Val)	NC_000005.9:g.90021438A>G	(Likely) benign	1 lab	61d37b5c62
1:215848552 USH2A G>A	1	215848552	215848552	G	A	USH2A	c.12701C>T	NM_206933.2	NP_996816.2:p.(Thr4234Met)	NC_000001.10:g.215848552G>A	(Likely) benign	1 lab	61d49cb36c
17:29548943 NF1 AT>A	17	29548943	29548945	AT	A	NF1	c.1719del	NM_001042492.3	NP_001035957.1:p.(Ser574AlafsTer12)	NC_000017.10:g.29548945del	(Likely) pathogenic	1 lab	61d4b5b0c6
1:10435351 KIF1B G>T	1	10435351	10435351	G	T	KIF1B	c.5190G>T	NM_015074.3	NP_055889.2:p.(Gly1730=)	NC_000001.10:g.10435351G>T	(Likely) benign	1 lab	61d4ddcabc
8:144998087 PLEC G>A	8	144998087	144998087	G	A	PLEC	c.6421C>T	NM_201380.3	NP_958782.1:p.(Arg2141Trp)	NC_000008.10:g.144998087G>A	VUS	1 lab	61d4f2e336
1:228560723 OBSCN G>A	1	228560723	228560723	G	A	OBSCN	c.25115G>A	NM_001271223.2	NP_001258152.2:p.(Arg8372His)	NC_000001.10:g.228560723G>A	(Likely) benign	1 lab	61d58312ed
5:54522844 MCIDAS C>T	5	54522844	54522844	C	T	MCIDAS	c.120+3G>A	NM_001190787.1	NP_001177716.1:p.?	NC_000005.9:g.54522844C>T	(Likely) benign	1 lab	61d61ba5e2
X:53612104 HUWE1 G>A	X	53612104	53612104	G	A	HUWE1	c.4869C>T	NM_031407.6	NP_113584.3:p.(Arg1623=)	NC_000023.10:g.53612104G>A	(Likely) benign	1 lab	61d6bde5ca
9:134387438 POMT1 G>A	9	134387438	134387438	G	A	POMT1	c.997G>A	NM_001136113.1	NP_001129585.1:p.(Gly333Ser)	NC_000009.11:g.134387438G>A	VUS	1 lab	61d70925b9
17:26864139 FOXN1 C>G	17	26864139	26864139	C	G	FOXN1	c.1632C>G	NM_003593.2	NP_003584.2:p.(Asn544Lys)	NC_000017.10:g.26864139C>G	VUS	1 lab	61d7e2a3d0
17:7909773 GUCY2D G>A	17	7909773	7909773	G	A	GUCY2D	c.1119G>A	NM_000180.3	NP_000171.1:p.(Val373=)	NC_000017.10:g.7909773G>A	(Likely) benign	1 lab	61d90a8228
4:113540461 ZGRF1 G>A	4	113540461	113540461	G	A	ZGRF1	c.737C>T	NM_018392.4	NP_060862.3:p.(Ser246Leu)	NC_000004.11:g.113540461G>A	VUS	1 lab	61daaaaf27
12:53702058 AAAS C>T	12	53702058	53702058	C	T	AAAS	c.1249+8G>A	NM_015665.5	NP_056480.1:p.?	NC_000012.11:g.53702058C>T	(Likely) benign	1 lab	61dc727316
X:63411884 AMER1 G>A	X	63411884	63411884	G	A	AMER1	c.1283C>T	NM_152424.4	NP_689637.3:p.(Thr428Ile)	NC_000023.10:g.63411884G>A	(Likely) benign	1 lab	61dcbead7b
14:51196407 NIN G>A	14	51196407	51196407	G	A	NIN	c.5912C>T	NM_020921.3	NP_065972.3:p.(Pro1971Leu)	NC_000014.8:g.51196407G>A	VUS	1 lab	61dd6feb35
22:26422825 MYO18B C>T	22	26422825	26422825	C	T	MYO18B	c.6888C>T	NM_001318245.1	NP_001305174.1:p.(Gly2296=)	NC_000022.10:g.26422825C>T	(Likely) benign	1 lab	61def0fda4
16:57788900 KATNB1 G>A	16	57788900	57788900	G	A	KATNB1	c.1287G>A	NM_005886.2	NP_005877.2:p.(Pro429=)	NC_000016.9:g.57788900G>A	(Likely) benign	1 lab	61e074352b
6:76542598 MYO6 G>A	6	76542598	76542598	G	A	MYO6	c.431G>A	NM_004999.3	NP_004990.3:p.(Ser144Asn)	NC_000006.11:g.76542598G>A	VUS	1 lab	61e0c68d98
5:68830510 OCLN G>A	5	68830510	68830510	G	A	OCLN	c.892-11G>A	NM_002538.3	NP_002529.1:p.?	NC_000005.9:g.68830510G>A	VUS	1 lab	61e26c20f6
12:39698641 KIF21A G>C	12	39698641	39698641	G	C	KIF21A	c.4542C>G	NM_001173464.1	NP_001166935.1:p.(Ser1514=)	NC_000012.11:g.39698641G>C	(Likely) benign	1 lab	61e3e6898c
11:78285491 NARS2 A>G	11	78285491	78285491	A	G	NARS2	c.43T>C	NM_024678.6	NP_078954.4:p.(Ser15Pro)	NC_000011.9:g.78285491A>G	VUS	1 lab	61e4ad040b
17:41197829 BRCA1 G>A	17	41197829	41197829	G	A	BRCA1	c.5468-10C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197829G>A	(Likely) benign	1 lab	61e5357935
4:103590183 MANBA G>C	4	103590183	103590183	G	C	MANBA	c.1254C>G	NM_005908.3	NP_005899.3:p.(Ala418=)	NC_000004.11:g.103590183G>C	(Likely) benign	1 lab	61e5834584
16:74773946 FA2H C>T	16	74773946	74773946	C	T	FA2H	c.338G>A	NM_024306.4	NP_077282.3:p.(Arg113Gln)	NC_000016.9:g.74773946C>T	(Likely) benign	1 lab	61e6aa5cb8
19:3978042 EEF2 G>A	19	3978042	3978042	G	A	EEF2	c.1842C>T	NM_001961.3	NP_001952.1:p.(Ala614=)	NC_000019.9:g.3978042G>A	(Likely) benign	1 lab	61e73f0760
17:79478070 ACTG1 G>C	17	79478070	79478070	G	C	ACTG1	c.867C>G	NM_001199954.2	NP_001186883.1:p.(Ile289Met)	NC_000017.10:g.79478070G>C	VUS	1 lab	61e824b420
15:41384354 INO80 G>A	15	41384354	41384354	G	A	INO80	c.408C>T	NM_017553.3	NP_060023.1:p.(Ser136=)	NC_000015.9:g.41384354G>A	(Likely) benign	1 lab	61e9cf57f3
21:43795897 TMPRSS3 G>A	21	43795897	43795897	G	A	TMPRSS3	c.1275C>T	NM_024022.2	NP_076927.1:p.(Cys425=)	NC_000021.8:g.43795897G>A	(Likely) benign	1 lab	61ec4cd9ca
3:130852725 NEK11 C>T	3	130852725	130852725	C	T	NEK11	c.128C>T	NM_001353038.1	NP_001339967.1:p.(Thr43Ile)	NC_000003.11:g.130852725C>T	VUS	1 lab	61ed1d4408
11:678763 DEAF1 C>T	11	678763	678763	C	T	DEAF1	c.1186G>A	NM_021008.3	NP_066288.2:p.(Gly396Ser)	NC_000011.9:g.678763C>T	(Likely) benign	1 lab	61ed75235e
17:29667611 NF1 TT>C	17	29667611	29667612	TT	C	NF1	c.6947_6948delinsC	NM_000267.3	NP_000258.1:p.(Leu2316ProfsTer9)	NC_000017.10:g.29667611_29667612delinsC	(Likely) pathogenic	1 lab	61ef24416f
2:220428096 OBSL1 G>A	2	220428096	220428096	G	A	OBSL1	c.2661C>T	NM_015311.2	NP_056126.1:p.(Tyr887=)	NC_000002.11:g.220428096G>A	(Likely) benign	1 lab	61ef82e029
22:33700423 LARGE1 C>T	22	33700423	33700423	C	T	LARGE1	c.1522G>A	NM_133642.5	NP_598397.1:p.(Ala508Thr)	NC_000022.10:g.33700423C>T	VUS	1 lab	f3c9c448f9
14:21762974 RPGRIP1 T>C	14	21762974	21762974	T	C	RPGRIP1	c.218+6T>C	NM_020366.3	NP_065099.3:p.?	NC_000014.8:g.21762974T>C	VUS	1 lab	61f1724d5f
15:48760623 FBN1 C>T	15	48760623	48760623	C	T	FBN1	c.4568G>A	NM_000138.4	NP_000129.3:p.(Arg1523Gln)	NC_000015.9:g.48760623C>T	VUS	1 lab	61f2030d89
X:82763779 POU3F4 A>C	X	82763779	82763779	A	C	POU3F4	c.447A>C	NM_000307.4	NP_000298.3:p.(Gly149=)	NC_000023.10:g.82763779A>C	(Likely) benign	1 lab	61f46510cc
5:180582865 OR2V2 G>A	5	180582865	180582865	G	A	OR2V2	c.923G>A	NM_206880.1	NP_996763.1:p.(Arg308His)	NC_000005.9:g.180582865G>A	(Likely) benign	1 lab	61f511574d
8:10480235 RP1L1 GT>G	8	10480235	10480237	GT	G	RP1L1	c.476del	NM_178857.6	NP_849188.4:p.(Asn159ThrfsTer35)	NC_000008.10:g.10480237del	(Likely) pathogenic	1 lab	61f535f318
12:49434230 KMT2D G>A	12	49434230	49434230	G	A	KMT2D	c.7323C>T	NM_003482.3	NP_003473.3:p.(Thr2441=)	NC_000012.11:g.49434230G>A	(Likely) benign	1 lab	61f545ae23
6:43634267 RSPH9 C>T	6	43634267	43634267	C	T	RSPH9	c.722+10C>T	NM_001193341.1	NP_001180270.1:p.?	NC_000006.11:g.43634267C>T	(Likely) benign	1 lab	61f55c218a
12:1902901 CACNA2D4 C>T	12	1902901	1902901	C	T	CACNA2D4	c.3334G>A	NM_172364.4	NP_758952.4:p.(Ala1112Thr)	NC_000012.11:g.1902901C>T	(Likely) benign	1 lab	61f6d5e395
X:128722209 OCRL TTGTC>T	X	128722209	128722215	TTGTC	T	OCRL	c.2313_2316del	NM_000276.4	NP_000267.2:p.(Cys771TrpfsTer53)	NC_000023.10:g.128722212_128722215del	(Likely) pathogenic	1 lab	61f8d7f5a3
13:39433543 FREM2 T>C	13	39433543	39433543	T	C	FREM2	c.7335T>C	NM_207361.5	NP_997244.4:p.(Gly2445=)	NC_000013.10:g.39433543T>C	(Likely) benign	1 lab	61fbc2503e
9:111681568 ELP1 T>C	9	111681568	111681568	T	C	ELP1	c.614A>G	NM_003640.3	NP_003631.2:p.(Gln205Arg)	NC_000009.11:g.111681568T>C	VUS	1 lab	61fd8f0c0e
22:32270378 DEPDC5 T>C	22	32270378	32270378	T	C	DEPDC5	c.3683T>C	NM_001242896.2	NP_001229825.1:p.(Ile1228Thr)	NC_000022.10:g.32270378T>C	VUS	1 lab	61ff824403
17:7749217 KDM6B G>A	17	7749217	7749217	G	A	KDM6B	c.165G>A	NM_001080424.2	NP_001073893.1:p.(Pro55=)	NC_000017.10:g.7749217G>A	(Likely) benign	1 lab	61ffd08785
7:128488098 FLNC A>G	7	128488098	128488098	A	G	FLNC	c.4556A>G	NM_001458.4	NP_001449.3:p.(Tyr1519Cys)	NC_000007.13:g.128488098A>G	VUS	1 lab	61ffd89ec9
20:10629756 JAG1 C>T	20	10629756	10629756	C	T	JAG1	c.1349-1G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629756C>T	(Likely) pathogenic	1 lab	62004fda28
13:32931951 BRCA2 A>G	13	32931951	32931951	A	G	BRCA2	c.7690A>G	NM_000059.3	NP_000050.2:p.(Thr2564Ala)	NC_000013.10:g.32931951A>G	(Likely) benign	1 lab	620330a999
7:56087409 PSPH G>A	7	56087409	56087409	G	A	PSPH	c.159C>T	NM_004577.4	NP_004568.2:p.(Gly53=)	NC_000007.13:g.56087409G>A	(Likely) benign	1 lab	f3cad46164
1:213031957 FLVCR1 G>T	1	213031957	213031957	G	T	FLVCR1	c.163G>T	NM_014053.3	NP_054772.1:p.(Asp55Tyr)	NC_000001.10:g.213031957G>T	(Likely) benign	1 lab	62048a73c7
20:2397993 TGM6 C>T	20	2397993	2397993	C	T	TGM6	c.1452C>T	NM_198994.2	NP_945345.2:p.(Asp484=)	NC_000020.10:g.2397993C>T	(Likely) benign	1 lab	62053b639d
16:28944403 CD19 C>T	16	28944403	28944403	C	T	CD19	c.527C>T	NM_001178098.1	NP_001171569.1:p.(Pro176Leu)	NC_000016.9:g.28944403C>T	(Likely) benign	1 lab	6206786956
2:63832005 MDH1 C>T	2	63832005	63832005	C	T	MDH1	c.674C>T	NM_005917.4	NP_005908.1:p.(Thr225Met)	NC_000002.11:g.63832005C>T	VUS	1 lab	f3cc814622
15:28387498 HERC2 C>T	15	28387498	28387498	C	T	HERC2	c.11586G>A	NM_004667.5	NP_004658.3:p.(Leu3862=)	NC_000015.9:g.28387498C>T	(Likely) benign	1 lab	620854b3ef
17:65899950 BPTF CA>C	17	65899950	65899959	CA	C	BPTF	c.2976del	NM_004459.7	NP_004450.3:p.(Glu993ArgfsTer16)	NC_000017.10:g.65899959del	VUS	1 lab	f3cfd8e287
7:91726446 AKAP9 G>A	7	91726446	91726446	G	A	AKAP9	c.10173G>A	NM_005751.4	NP_005742.4:p.(Leu3391=)	NC_000007.13:g.91726446G>A	(Likely) benign	1 lab	6209c1c42e
17:39925900 JUP C>T	17	39925900	39925900	C	T	JUP	c.238G>A	NM_021991.2	NP_068831.1:p.(Ala80Thr)	NC_000017.10:g.39925900C>T	(Likely) benign	1 lab	620bb22ba5
7:6042284 PMS2 G>C	7	6042284	6042284	G	C	PMS2	c.28C>G	NM_001322015.1	NP_001308944.1:p.(Leu10Val)	NC_000007.13:g.6042284G>C	(Likely) benign	1 lab	620bc06d5a
X:117773419 DOCK11 A>G	X	117773419	117773419	A	G	DOCK11	c.4023A>G	NM_144658.3	NP_653259.3:p.(Ser1341=)	NC_000023.10:g.117773419A>G	(Likely) benign	1 lab	620d648cd4
18:56936570 RAX C>T	18	56936570	56936570	C	T	RAX	c.707G>A	NM_013435.2	NP_038463.2:p.(Gly236Glu)	NC_000018.9:g.56936570C>T	VUS	1 lab	6210c18979
9:139328481 INPP5E C>G	9	139328481	139328481	C	G	INPP5E	c.1034+8G>C	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139328481C>G	(Likely) benign	1 lab	6211782931
15:23891006 MAGEL2 C>T	15	23891006	23891006	C	T	MAGEL2	c.1884G>A	NM_019066.4	NP_061939.3:p.(Gln628=)	NC_000015.9:g.23891006C>T	(Likely) benign	1 lab	6211973e9b
13:52548694 ATP7B G>T	13	52548694	52548694	G	T	ATP7B	c.662C>A	NM_000053.3	NP_000044.2:p.(Pro221Gln)	NC_000013.10:g.52548694G>T	(Likely) benign	1 lab	6211f2ccd2
X:153689564 PLXNA3 G>A	X	153689564	153689564	G	A	PLXNA3	c.720G>A	NM_017514.4	NP_059984.3:p.(Thr240=)	NC_000023.10:g.153689564G>A	(Likely) benign	1 lab	62122dd8ff
11:1268956 MUC5B G>A	11	1268956	1268956	G	A	MUC5B	c.10846G>A	NM_002458.2	NP_002449.2:p.(Glu3616Lys)	NC_000011.9:g.1268956G>A	(Likely) benign	1 lab	6214d002b5
3:149700072 TMEM183BP G>A	3	149700072	149700072	G	A	TMEM183BP	c.1024C>T	NM_001079809.1	NP_001073277.1:p.(Arg342Trp)	NC_000003.11:g.149700072G>A	VUS	1 lab	62157ee330
5:149499046 PDGFRB G>A	5	149499046	149499046	G	A	PDGFRB	c.2782C>T	NM_002609.3	NP_002600.1:p.(His928Tyr)	NC_000005.9:g.149499046G>A	VUS	1 lab	6217dcb471
17:10599112 SCO1 T>C	17	10599112	10599112	T	C	SCO1	c.310A>G	NM_004589.3	NP_004580.1:p.(Ile104Val)	NC_000017.10:g.10599112T>C	(Likely) benign	1 lab	62196672fa
4:151199012 LRBA C>T	4	151199012	151199012	C	T	LRBA	c.8476G>A	NM_001367550.1	NP_001354479.1:p.(Asp2826Asn)	NC_000004.11:g.151199012C>T	VUS	1 lab	621b3ff366
6:33134871 COL11A2 G>A	6	33134871	33134871	G	A	COL11A2	c.4206C>T	NM_080680.2	NP_542411.2:p.(Gly1402=)	NC_000006.11:g.33134871G>A	(Likely) benign	1 lab	621cdfa939
X:135772761 ARHGEF6 T>C	X	135772761	135772761	T	C	ARHGEF6	c.1185+8A>G	NM_004840.2	NP_004831.1:p.?	NC_000023.10:g.135772761T>C	(Likely) benign	1 lab	621de4edcf
16:3304494 MEFV TGCA>T	16	3304494	3304498	TGCA	T	MEFV	c.571_573del	NM_000243.3	NP_000234.1:p.(Cys191del)	NC_000016.9:g.3304496_3304498del	VUS	1 lab	621fea3004
X:153008723 ABCD1 C>T	X	153008723	153008723	C	T	ABCD1	c.1914C>T	NM_000033.3	NP_000024.2:p.(Asp638=)	NC_000023.10:g.153008723C>T	(Likely) benign	1 lab	621ffb949c
14:73659420 PSEN1 G>A	14	73659420	73659420	G	A	PSEN1	c.617G>A	NM_000021.3	NP_000012.1:p.(Gly206Asp)	NC_000014.8:g.73659420G>A	(Likely) pathogenic	1 lab	622165d279
10:26849690 APBB1IP G>A	10	26849690	26849690	G	A	APBB1IP	c.1286G>A	NM_019043.4	NP_061916.3:p.(Arg429Gln)	NC_000010.10:g.26849690G>A	(Likely) benign	1 lab	6221e77fb1
3:66444506 LRIG1 C>A	3	66444506	66444506	C	A	LRIG1	c.1426G>T	NM_015541.2	NP_056356.2:p.(Gly476Cys)	NC_000003.11:g.66444506C>A	VUS	1 lab	622224c5e1
4:102816498 BANK1 A>G	4	102816498	102816498	A	G	BANK1	c.940A>G	NM_017935.4	NP_060405.4:p.(Ile314Val)	NC_000004.11:g.102816498A>G	(Likely) benign	1 lab	6222795567
17:11501843 DNAH9 C>T	17	11501843	11501843	C	T	DNAH9	c.28C>T	NM_001372.3	NP_001363.2:p.(Leu10Phe)	NC_000017.10:g.11501843C>T	(Likely) benign	1 lab	6224b814a2
17:29654632 NF1 A>AT	17	29654632	29654633	A	AT	NF1	c.5322dup	NM_000267.3	NP_000258.1:p.(Glu1775Ter)	NC_000017.10:g.29654633dup	(Likely) pathogenic	1 lab	622a8d8e95
12:53189404 KRT3 A>T	12	53189404	53189404	A	T	KRT3	c.423T>A	NM_057088.2	NP_476429.2:p.(Gly141=)	NC_000012.11:g.53189404A>T	(Likely) benign	1 lab	622ce41adc
7:1533502 INTS1 C>T	7	1533502	1533502	C	T	INTS1	c.1956G>A	NM_001080453.3	NP_001073922.2:p.(Thr652=)	NC_000007.13:g.1533502C>T	(Likely) benign	1 lab	622f12f82a
1:216420277 USH2A T>C	1	216420277	216420277	T	C	USH2A	c.2459A>G	NM_206933.2	NP_996816.2:p.(Asn820Ser)	NC_000001.10:g.216420277T>C	VUS	1 lab	62306025e2
17:40714863 COASY G>C	17	40714863	40714863	G	C	COASY	c.223G>C	NM_025233.6	NP_079509.5:p.(Ala75Pro)	NC_000017.10:g.40714863G>C	VUS	1 lab	6230a48556
10:89653790 PTEN C>A	10	89653790	89653790	C	A	PTEN	c.88C>A	NM_000314.4	NP_000305.3:p.(Pro30Thr)	NC_000010.10:g.89653790C>A	VUS	1 lab	623306be5a
8:48762046 PRKDC A>G	8	48762046	48762046	A	G	PRKDC	c.7024T>C	NM_006904.6	NP_008835.5:p.(Cys2342Arg)	NC_000008.10:g.48762046A>G	(Likely) benign	1 lab	62377046ad
11:6662144 DCHS1 G>T	11	6662144	6662144	G	T	DCHS1				NC_000011.9:g.6662144G>T	VUS	1 lab	6239ed54f8
14:65220384 SPTB G>A	14	65220384	65220384	G	A	SPTB	c.6473C>T	NM_001024858.3	NP_001020029.1:p.(Thr2158Met)	NC_000014.8:g.65220384G>A	VUS	1 lab	623aaa626a
8:10466484 RP1L1 C>T	8	10466484	10466484	C	T	RP1L1	c.5124G>A	NM_178857.5	NP_849188.4:p.(Val1708=)	NC_000008.10:g.10466484C>T	(Likely) benign	1 lab	623bde9f11
16:89347372 ANKRD11 G>A	16	89347372	89347372	G	A	ANKRD11	c.5578C>T	NM_001256182.1	NP_001243111.1:p.(Pro1860Ser)	NC_000016.9:g.89347372G>A	VUS	1 lab	623dcbaeec
1:22456323 WNT4 C>T	1	22456323	22456323	C	T	WNT4	c.99G>A	NM_030761.4	NP_110388.2:p.(Ser33=)	NC_000001.10:g.22456323C>T	(Likely) benign	1 lab	6240fe9448
15:48737648 FBN1 T>C	15	48737648	48737648	T	C	FBN1	c.5842A>G	NM_000138.4	NP_000129.3:p.(Ile1948Val)	NC_000015.9:g.48737648T>C	VUS	1 lab	6242256a7e
X:153579341 FLNA G>A	X	153579341	153579341	G	A	FLNA	c.7092C>T	NM_001110556.2	NP_001104026.1:p.(Ile2364=)	NC_000023.10:g.153579341G>A	(Likely) benign	1 lab	62437688a9
9:139326959 INPP5E G>A	9	139326959	139326959	G	A	INPP5E	c.1359C>T	NM_019892.5	NP_063945.2:p.(Pro453=)	NC_000009.11:g.139326959G>A	(Likely) benign	1 lab	6243e1e83d
1:120466413 NOTCH2 A>G	1	120466413	120466413	A	G	NOTCH2	c.4706T>C	NM_024408.3	NP_077719.2:p.(Leu1569Pro)	NC_000001.10:g.120466413A>G	VUS	1 lab	6243e8673b
11:118220582 CD3G TA>T	11	118220582	118220591	TA	T	CD3G	c.213del	NM_000073.3	NP_000064.1:p.(Lys71AsnfsTer40)	NC_000011.9:g.118220591del	(Likely) pathogenic	1 lab	62467842d9
X:105937376 RNF128 A>C	X	105937376	105937376	A	C	RNF128	c.144A>C	NM_024539.3	NP_078815.3:p.(Thr48=)	NC_000023.10:g.105937376A>C	(Likely) benign	1 lab	624a68a4fc
17:1584345 PRPF8 A>G	17	1584345	1584345	A	G	PRPF8	c.870T>C	NM_006445.3	NP_006436.3:p.(Asp290=)	NC_000017.10:g.1584345A>G	(Likely) benign	1 lab	624ce6abb8
2:152424597 NEB G>A	2	152424597	152424597	G	A	NEB	c.17832C>T	NM_001271208.1	NP_001258137.1:p.(Asp5944=)	NC_000002.11:g.152424597G>A	(Likely) benign	1 lab	624d783042
6:32816850 TAP1 G>T	6	32816850	32816850	G	T	TAP1	c.1474C>A	NM_000593.5	NP_000584.2:p.(Gln492Lys)	NC_000006.11:g.32816850G>T	(Likely) benign	1 lab	624da7f78c
18:11753825 GNAL A>G	18	11753825	11753825	A	G	GNAL	c.505A>G	NM_182978.3	NP_892023.1:p.(Thr169Ala)	NC_000018.9:g.11753825A>G	(Likely) benign	1 lab	624eb78e76
19:6714400 C3 C>T	19	6714400	6714400	C	T	C3	c.562G>A	NM_000064.2	NP_000055.2:p.(Val188Ile)	NC_000019.9:g.6714400C>T	(Likely) benign	1 lab	62508118ea
15:80445397 FAH A>G	15	80445397	80445397	A	G	FAH	c.1A>G	NM_000137.2	NP_000128.1:p.(Met1?)	NC_000015.9:g.80445397A>G	VUS	1 lab	6250f3d941
12:122702861 DIABLO G>A	12	122702861	122702861	G	A	DIABLO	c.108C>T	NM_001278304.1	NP_001265233.1:p.(Leu36=)	NC_000012.11:g.122702861G>A	(Likely) benign	1 lab	6251b06dbd
12:113629150 RITA1 C>T	12	113629150	113629150	C	T	RITA1	c.410C>T	NM_001286215.1	NP_001273144.1:p.(Ser137Leu)	NC_000012.11:g.113629150C>T	VUS	1 lab	625302abcb
5:140682845 SLC25A2 C>T	5	140682845	140682845	C	T	SLC25A2	c.588G>A	NM_031947.3	NP_114153.1:p.(Ser196=)	NC_000005.9:g.140682845C>T	(Likely) benign	1 lab	62540447bc
17:29486062 NF1 ATC>A	17	29486062	29486070	ATC	A	NF1	c.246_247del	NM_001042492.3	NP_001035957.1:p.(Gln83ValfsTer23)	NC_000017.10:g.29486069_29486070del	(Likely) pathogenic	1 lab	6256588601
9:133760715 ABL1 G>A	9	133760715	133760715	G	A	ABL1	c.3095G>A	NM_007313.2	NP_009297.2:p.(Arg1032Gln)	NC_000009.11:g.133760715G>A	VUS	1 lab	6256c5c399
X:99917374 SRPX2 G>A	X	99917374	99917374	G	A	SRPX2	c.355+10G>A	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99917374G>A	(Likely) benign	1 lab	6257278661
2:191931248 STAT4 AG>A	2	191931248	191931250	AG	A	STAT4	c.545-8del	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191931250del	(Likely) benign	1 lab	62586d86ad
6:165848858 PDE10A C>G	6	165848858	165848858	C	G	PDE10A	c.374G>C	NM_006661.3	NP_006652.1:p.(Cys125Ser)	NC_000006.11:g.165848858C>G	VUS	1 lab	625b6f82f3
11:640065 DRD4 T>C	11	640065	640065	T	C	DRD4	c.816T>C	NM_000797.3	NP_000788.2:p.(Gly272=)	NC_000011.9:g.640065T>C	(Likely) benign	1 lab	625bb1bbe4
22:51117787 MISSING T>C	22	51117787	51117787	T	C	MISSING				NC_000022.10:g.51117787T>C	(Likely) benign	1 lab	7380c641d7
2:179631190 TTN G>C	2	179631190	179631190	G	C	TTN	c.9621C>G	NM_001267550.1	NP_001254479.1:p.(Ile3207Met)	NC_000002.11:g.179631190G>C	VUS	1 lab	625cca835e
19:37117830 ZNF382 A>G	19	37117830	37117830	A	G	ZNF382	c.1031A>G	NM_032825.5	NP_116214.2:p.(Lys344Arg)	NC_000019.9:g.37117830A>G	(Likely) benign	1 lab	625ce8e193
2:69240649 ANTXR1 G>A	2	69240649	69240649	G	A	ANTXR1	c.18G>A	NM_032208.2	NP_115584.1:p.(Arg6=)	NC_000002.11:g.69240649G>A	(Likely) benign	1 lab	625d1a5edc
2:26693518 OTOF G>C	2	26693518	26693518	G	C	OTOF	c.3966C>G	NM_194248.2	NP_919224.1:p.(Asp1322Glu)	NC_000002.11:g.26693518G>C	VUS	1 lab	625e2b6a86
1:94471076 ABCA4 A>G	1	94471076	94471076	A	G	ABCA4	c.6068T>C	NM_000350.2	NP_000341.2:p.(Ile2023Thr)	NC_000001.10:g.94471076A>G	VUS	1 lab	625f428edb
4:88533706 DSPP G>C	4	88533706	88533706	G	C	DSPP	c.368G>C	NM_014208.3	NP_055023.2:p.(Gly123Ala)	NC_000004.11:g.88533706G>C	(Likely) benign	1 lab	625fd39957
2:179587005 TTN A>T	2	179587005	179587005	A	T	TTN	c.22509T>A	NM_001267550.1	NP_001254479.1:p.(Ser7503Arg)	NC_000002.11:g.179587005A>T	VUS	1 lab	626068bafd
12:116446379 MED13L G>A	12	116446379	116446379	G	A	MED13L	c.1839C>T	NM_015335.4	NP_056150.1:p.(Ser613=)	NC_000012.11:g.116446379G>A	VUS	1 lab	6262f24ba7
20:62324609 RTEL1 C>T	20	62324609	62324609	C	T	RTEL1	c.2965C>T	NM_001283009.1	NP_001269938.1:p.(Arg989Trp)	NC_000020.10:g.62324609C>T	(Likely) benign	1 lab	62631228d9
17:29560234 NF1 A>T	17	29560234	29560234	A	T	NF1	c.3708+3A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29560234A>T	(Likely) benign	1 lab	62640e7a8c
20:47592568 ARFGEF2 C>A	20	47592568	47592568	C	A	ARFGEF2	c.1790C>A	NM_006420.2	NP_006411.2:p.(Thr597Lys)	NC_000020.10:g.47592568C>A	(Likely) benign	1 lab	62648085e6
15:43044332 TTBK2 C>T	15	43044332	43044332	C	T	TTBK2	c.3112G>A	NM_173500.3	NP_775771.3:p.(Asp1038Asn)	NC_000015.9:g.43044332C>T	VUS	1 lab	6264c14ff6
X:153186911 ARHGAP4 G>A	X	153186911	153186911	G	A	ARHGAP4	c.342C>T	NM_001164741.1	NP_001158213.1:p.(Ser114=)	NC_000023.10:g.153186911G>A	(Likely) benign	1 lab	62650475b5
X:50052737 CCNB3 C>T	X	50052737	50052737	C	T	CCNB3	c.1568C>T	NM_033031.2	NP_149020.2:p.(Pro523Leu)	NC_000023.10:g.50052737C>T	VUS	1 lab	6266b508c0
8:144999874 PLEC G>A	8	144999874	144999874	G	A	PLEC	c.4634C>T	NM_201380.3	NP_958782.1:p.(Ala1545Val)	NC_000008.10:g.144999874G>A	VUS	1 lab	6267c17f1c
11:17632031 OTOG C>G	11	17632031	17632031	C	G	OTOG	c.5220C>G	NM_001277269.1	NP_001264198.1:p.(Ala1740=)	NC_000011.9:g.17632031C>G	(Likely) benign	1 lab	6268e50423
3:52524214 NISCH G>A	3	52524214	52524214	G	A	NISCH	c.3580G>A	NM_007184.3	NP_009115.2:p.(Gly1194Ser)	NC_000003.11:g.52524214G>A	(Likely) benign	1 lab	626a25904a
1:876677 SAMD11 T>C	1	876677	876677	T	C	SAMD11	c.860T>C	NM_152486.3	NP_689699.2:p.(Phe287Ser)	NC_000001.10:g.876677T>C	VUS	1 lab	626ad2480f
8:145108172 OPLAH C>CA	8	145108172	145108173	C	CA	OPLAH	c.2810dup	NM_017570.4	NP_060040.1:p.(Glu939GlyfsTer23)	NC_000008.10:g.145108173dup	(Likely) pathogenic	1 lab	626addeadd
22:38882365 DDX17 G>A	22	38882365	38882365	G	A	DDX17	c.1771C>T	NM_001098504.1	NP_001091974.1:p.(Arg591Ter)	NC_000022.10:g.38882365G>A	VUS	1 lab	626cc60545
1:107691417 NTNG1 C>A	1	107691417	107691417	C	A	NTNG1	c.202C>A	NM_001113226.2	NP_001106697.1:p.(Pro68Thr)	NC_000001.10:g.107691417C>A	VUS	1 lab	626e7029fc
16:2126119 TSC2 T>C	16	2126119	2126119	T	C	TSC2	c.2690T>C	NM_000548.3	NP_000539.2:p.(Phe897Ser)	NC_000016.9:g.2126119T>C	(Likely) pathogenic	1 lab	626ebe76ad
1:11854864 MTHFR C>T	1	11854864	11854864	C	T	MTHFR	c.1088G>A	NM_005957.4	NP_005948.3:p.(Arg363His)	NC_000001.10:g.11854864C>T	(Likely) pathogenic	1 lab	6271e9adae
18:10704448 PIEZO2 A>T	18	10704448	10704448	A	T	PIEZO2	c.5863T>A	NM_022068.4	NP_071351.2:p.(Leu1955Met)	NC_000018.9:g.10704448A>T	VUS	1 lab	f3dbbafb95
12:52867416 KRT6C T>C	12	52867416	52867416	T	C	KRT6C	c.106A>G	NM_173086.5	NP_775109.2:p.(Ile36Val)	NC_000012.11:g.52867416T>C	(Likely) benign	1 lab	f3dd2043e9
8:145748600 LRRC24 C>T	8	145748600	145748600	C	T	LRRC24	c.801G>A	NM_001024678.4	NP_001019849.2:p.(Leu267=)	NC_000008.10:g.145748600C>T	(Likely) benign	1 lab	6273e5a67a
13:103519083 ERCC5 C>T	13	103519083	103519083	C	T	ERCC5	c.2421C>T	NM_000123.3	NP_000114.2:p.(Ile807=)	NC_000013.10:g.103519083C>T	(Likely) benign	1 lab	6276b9c6e5
1:160263169 COPA C>T	1	160263169	160263169	C	T	COPA	c.2781+7G>A	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160263169C>T	(Likely) benign	1 lab	62772c4977
15:57565402 TCF12 ACTC>A	15	57565402	57565407	ACTC	A	TCF12	c.1923_1925del	NM_207037.2	NP_996920.1:p.(Leu642del)	NC_000015.9:g.57565405_57565407del	VUS	1 lab	627b96ac92
16:4920311 UBN1 A>G	16	4920311	4920311	A	G	UBN1	c.1280A>G	NM_001079514.2	NP_001072982.1:p.(Lys427Arg)	NC_000016.9:g.4920311A>G	VUS	1 lab	627ec3c19a
X:153577890 FLNA T>C	X	153577890	153577890	T	C	FLNA	c.7596A>G	NM_001110556.2	NP_001104026.1:p.(Ser2532=)	NC_000023.10:g.153577890T>C	(Likely) benign	1 lab	6281da2830
4:128811043 PLK4 A>G	4	128811043	128811043	A	G	PLK4	c.1482A>G	NM_014264.4	NP_055079.3:p.(Glu494=)	NC_000004.11:g.128811043A>G	(Likely) benign	1 lab	6282bab292
16:88801452 PIEZO1 C>T	16	88801452	88801452	C	T	PIEZO1	c.1679G>A	NM_001142864.4	NP_001136336.2:p.(Arg560Gln)	NC_000016.9:g.88801452C>T	(Likely) benign	1 lab	6283fc0a04
10:97376243 ALDH18A1 G>A	10	97376243	97376243	G	A	ALDH18A1	c.1596C>T	NM_001323413.1	NP_001310342.1:p.(Ala532=)	NC_000010.10:g.97376243G>A	(Likely) benign	1 lab	6287802963
7:117232258 CFTR G>A	7	117232258	117232258	G	A	CFTR	c.2037G>A	NM_000492.3	NP_000483.3:p.(Trp679Ter)	NC_000007.13:g.117232258G>A	(Likely) pathogenic	1 lab	6287fd93e1
15:41275051 INO80 C>A	15	41275051	41275051	C	A	INO80	c.4453+9G>T	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41275051C>A	(Likely) benign	1 lab	6289c919a7
8:126091052 WASHC5 C>G	8	126091052	126091052	C	G	WASHC5	c.639G>C	NM_014846.3	NP_055661.3:p.(Gln213His)	NC_000008.10:g.126091052C>G	(Likely) benign	1 lab	628a139a06
6:33131538 COL11A2 C>G	6	33131538	33131538	C	G	COL11A2	c.5128G>C	NM_080680.2	NP_542411.2:p.(Val1710Leu)	NC_000006.11:g.33131538C>G	VUS	1 lab	628ab0f688
6:35425718 FANCE C>T	6	35425718	35425718	C	T	FANCE	c.926C>T	NM_021922.2	NP_068741.1:p.(Pro309Leu)	NC_000006.11:g.35425718C>T	VUS	1 lab	628b4edf47
1:228345859 GJC2 G>A	1	228345859	228345859	G	A	GJC2	c.400G>A	NM_020435.3	NP_065168.2:p.(Gly134Ser)	NC_000001.10:g.228345859G>A	(Likely) benign	1 lab	628df04d2e
2:47288001 TTC7A A>G	2	47288001	47288001	A	G	TTC7A	c.2318A>G	NM_001288951.1	NP_001275880.1:p.(Tyr773Cys)	NC_000002.11:g.47288001A>G	VUS	1 lab	62904403c2
3:38598720 SCN5A AC>A	3	38598720	38598726	AC	A	SCN5A	c.4296+1del	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38598726del	(Likely) pathogenic	1 lab	6290bf9631
4:79434681 FRAS1 C>T	4	79434681	79434681	C	T	FRAS1	c.10149C>T	NM_025074.7	NP_079350.5:p.(Thr3383=)	NC_000004.11:g.79434681C>T	(Likely) benign	1 lab	6291d2e50c
5:179263547 SQSTM1 C>T	5	179263547	179263547	C	T	SQSTM1	c.1025C>T	NM_001142298.1	NP_001135770.1:p.(Ala342Val)	NC_000005.9:g.179263547C>T	VUS	1 lab	629227c494
10:124094412 BTBD16 C>T	10	124094412	124094412	C	T	BTBD16	c.1184C>T	NM_001318189.1	NP_001305118.1:p.(Ser395Leu)	NC_000010.10:g.124094412C>T	(Likely) benign	1 lab	62937a0f57
13:48878067 RB1 C>T	13	48878067	48878067	C	T	RB1	c.19C>T	NM_000321.3	NP_000312.2:p.(Arg7Ter)	NC_000013.10:g.48878067C>T	(Likely) pathogenic	1 lab	f3ddb22268
12:6634795 NCAPD2 A>C	12	6634795	6634795	A	C	NCAPD2	c.2261A>C	NM_014865.4	NP_055680.3:p.(Gln754Pro)	NC_000012.11:g.6634795A>C	VUS	1 lab	629595b8ec
12:12022635 ETV6 G>A	12	12022635	12022635	G	A	ETV6	c.741G>A	NM_001987.4	NP_001978.1:p.(Ala247=)	NC_000012.11:g.12022635G>A	(Likely) benign	1 lab	62967324b1
16:2115544 TSC2 C>G	16	2115544	2115544	C	G	TSC2	c.1624C>G	NM_000548.3	NP_000539.2:p.(Pro542Ala)	NC_000016.9:g.2115544C>G	VUS	1 lab	6296edd233
X:139586628 SOX3 T>G	X	139586628	139586628	T	G	SOX3	c.598A>C	NM_005634.2	NP_005625.2:p.(Met200Leu)	NC_000023.10:g.139586628T>G	VUS	1 lab	6296f10f1a
3:129304835 PLXND1 G>A	3	129304835	129304835	G	A	PLXND1	c.1811C>T	NM_015103.3	NP_055918.3:p.(Thr604Ile)	NC_000003.11:g.129304835G>A	VUS	1 lab	f3e240d01a
8:10468099 RP1L1 G>A	8	10468099	10468099	G	A	RP1L1	c.3509C>T	NM_178857.5	NP_849188.4:p.(Ser1170Leu)	NC_000008.10:g.10468099G>A	(Likely) benign	1 lab	629af78f75
X:48925106 CCDC120 C>G	X	48925106	48925106	C	G	CCDC120				NC_000023.10:g.48925106C>G	VUS	1 lab	629bc0df8e
1:3329240 PRDM16 G>A	1	3329240	3329240	G	A	PRDM16	c.2479G>A	NM_022114.3	NP_071397.3:p.(Val827Ile)	NC_000001.10:g.3329240G>A	(Likely) benign	1 lab	629bd67bf2
18:42532964 SETBP1 A>G	18	42532964	42532964	A	G	SETBP1	c.3659A>G	NM_015559.3	NP_056374.2:p.(Lys1220Arg)	NC_000018.9:g.42532964A>G	(Likely) benign	1 lab	629d1afa37
5:110438045 WDR36 A>G	5	110438045	110438045	A	G	WDR36	c.712A>G	NM_139281.2	NP_644810.1:p.(Lys238Glu)	NC_000005.9:g.110438045A>G	VUS	1 lab	629ed4ee63
5:149275960 PDE6A A>G	5	149275960	149275960	A	G	PDE6A	c.1579T>C	NM_000440.2	NP_000431.2:p.(Tyr527His)	NC_000005.9:g.149275960A>G	VUS	1 lab	62a0453bd6
17:65924475 BPTF G>A	17	65924475	65924475	G	A	BPTF	c.6134G>A	NM_004459.7	NP_004450.3:p.(Arg2045Gln)	NC_000017.10:g.65924475G>A	(Likely) benign	1 lab	f3e2afbcdf
7:107594103 LAMB1 G>C	7	107594103	107594103	G	C	LAMB1	c.2951C>G	NM_002291.2	NP_002282.2:p.(Thr984Arg)	NC_000007.13:g.107594103G>C	VUS	1 lab	62a7fc0925
3:160099337 IFT80 T>G	3	160099337	160099337	T	G	IFT80	c.213A>C	NM_020800.2	NP_065851.1:p.(Val71=)	NC_000003.11:g.160099337T>G	(Likely) benign	1 lab	62ab0ede41
12:8759503 AICDA A>C	12	8759503	8759503	A	C	AICDA	c.114T>G	NM_020661.2	NP_065712.1:p.(Ser38Arg)	NC_000012.11:g.8759503A>C	VUS	1 lab	62ab9939de
17:72914175 USH1G T>C	17	72914175	72914175	T	C	USH1G	c.1383-4A>G	NM_173477.4	NP_775748.2:p.?	NC_000017.10:g.72914175T>C	(Likely) benign	1 lab	62ad700b6a
X:114427116 RBMXL3 G>T	X	114427116	114427116	G	T	RBMXL3	c.3112G>T	NM_001145346.1	NP_001138818.1:p.(Asp1038Tyr)	NC_000023.10:g.114427116G>T	VUS	1 lab	62af4ae2bc
3:49759383 GMPPB A>C	3	49759383	49759383	A	C	GMPPB	c.966T>G	NM_013334.3	NP_037466.2:p.(Ala322=)	NC_000003.11:g.49759383A>C	(Likely) benign	1 lab	62b054cacb
19:19162858 ARMC6 C>G	19	19162858	19162858	C	G	ARMC6	c.707C>G	NM_001199196.2	NP_001186125.1:p.(Thr236Ser)	NC_000019.9:g.19162858C>G	(Likely) benign	1 lab	62b4fbbfaf
X:30714267 GK G>A	X	30714267	30714267	G	A	GK	c.661G>A	NM_001205019.1	NP_001191948.1:p.(Glu221Lys)	NC_000023.10:g.30714267G>A	(Likely) benign	1 lab	62b8e65a60
19:36499577 SYNE4 G>A	19	36499577	36499577	G	A	SYNE4	c.7C>T	NM_001039876.2	NP_001034965.1:p.(Leu3=)	NC_000019.9:g.36499577G>A	(Likely) benign	1 lab	62baadfb31
8:100861123 VPS13B G>A	8	100861123	100861123	G	A	VPS13B	c.10136+1G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100861123G>A	(Likely) pathogenic	1 lab	62baef9442
4:5710042 EVC2 T>TCCGCC	4	5710042	5710050	T	TCCGCC	EVC2	c.194_198dup	NM_147127.4	NP_667338.3:p.(Ser67GlyfsTer17)	NC_000004.11:g.5710046_5710050dup	(Likely) pathogenic	1 lab	62bb4208eb
9:6645410 GLDC C>A	9	6645410	6645410	C	A	GLDC	c.90G>T	NM_000170.3	NP_000161.2:p.(Trp30Cys)	NC_000009.11:g.6645410C>A	VUS	1 lab	f3e71e2884
2:179296905 PRKRA G>T	2	179296905	179296905	G	T	PRKRA	c.522C>A	NM_001316362.1	NP_001303291.1:p.(Ser174=)	NC_000002.11:g.179296905G>T	(Likely) benign	1 lab	62bc2247c6
18:55328483 ATP8B1 AC>A	18	55328483	55328485	AC	A	ATP8B1	c.2629del	NM_005603.6	NP_005594.2:p.(Val877TrpfsTer4)	NC_000018.9:g.55328485del	(Likely) pathogenic	1 lab	f3e75e01af
17:26874686 UNC119 C>A	17	26874686	26874686	C	A	UNC119	c.619G>T	NM_054035.2	NP_473376.1:p.(Ala207Ser)	NC_000017.10:g.26874686C>A	VUS	1 lab	62bcdeb875
11:78437243 TENM4 G>T	11	78437243	78437243	G	T	TENM4	c.3431C>A	NM_001098816.2	NP_001092286.2:p.(Ser1144Tyr)	NC_000011.9:g.78437243G>T	VUS	1 lab	62bdc0ddc6
15:63932546 HERC1 G>C	15	63932546	63932546	G	C	HERC1	c.11706C>G	NM_003922.3	NP_003913.3:p.(Asn3902Lys)	NC_000015.9:g.63932546G>C	VUS	1 lab	62bede9aaa
12:15794695 EPS8 G>A	12	15794695	15794695	G	A	EPS8	c.1638C>T	NM_004447.5	NP_004438.3:p.(Asn546=)	NC_000012.11:g.15794695G>A	(Likely) benign	1 lab	62c10af481
8:6479054 MCPH1 C>G	8	6479054	6479054	C	G	MCPH1	c.2294C>G	NM_024596.4	NP_078872.2:p.(Ser765Trp)	NC_000008.10:g.6479054C>G	VUS	1 lab	62c1222002
2:55894118 PNPT1 TA>T	2	55894118	55894121	TA	T	PNPT1	c.1176+7del	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55894121del	(Likely) benign	1 lab	62c24e81df
X:68382925 PJA1 C>T	X	68382925	68382925	C	T	PJA1	c.157G>A	NM_145119.3	NP_660095.1:p.(Glu53Lys)	NC_000023.10:g.68382925C>T	(Likely) benign	1 lab	62c4fcf11a
X:153173256 ARHGAP4 C>T	X	153173256	153173256	C	T	ARHGAP4	c.2888G>A	NM_001164741.1	NP_001158213.1:p.(Arg963Gln)	NC_000023.10:g.153173256C>T	(Likely) benign	1 lab	62c656aff1
17:45008553 GOSR2 CA>C	17	45008553	45008557	CA	C	GOSR2	c.187del	NM_004287.5	NP_004278.2:p.(Arg63GlyfsTer11)	NC_000017.10:g.45008557del	(Likely) pathogenic	1 lab	62c68acb2e
2:208993027 CRYGC C>T	2	208993027	208993027	C	T	CRYGC	c.425G>A	NM_020989.3	NP_066269.1:p.(Arg142Gln)	NC_000002.11:g.208993027C>T	VUS	1 lab	62c6bd6934
7:147183066 CNTNAP2 G>A	7	147183066	147183066	G	A	CNTNAP2	c.1710G>A	NM_014141.5	NP_054860.1:p.(Ser570=)	NC_000007.13:g.147183066G>A	(Likely) benign	1 lab	62c6c82f25
21:47860783 PCNT C>G	21	47860783	47860783	C	G	PCNT	c.9409C>G	NM_006031.5	NP_006022.3:p.(Leu3137Val)	NC_000021.8:g.47860783C>G	VUS	1 lab	62c6e827f7
15:72637870 HEXA G>A	15	72637870	72637870	G	A	HEXA	c.1476C>T	NM_001318825.1	NP_001305754.1:p.(Ala492=)	NC_000015.9:g.72637870G>A	(Likely) benign	1 lab	62c7f40da5
17:10545840 MYH3 C>A	17	10545840	10545840	C	A	MYH3	c.1782G>T	NM_002470.3	NP_002461.2:p.(Trp594Cys)	NC_000017.10:g.10545840C>A	VUS	1 lab	62c9399d01
1:9776098 PIK3CD C>T	1	9776098	9776098	C	T	PIK3CD	c.562C>T	NM_005026.3	NP_005017.3:p.(Arg188Trp)	NC_000001.10:g.9776098C>T	VUS	1 lab	62cb5aa010
17:58701088 PPM1D C>T	17	58701088	58701088	C	T	PPM1D	c.679C>T	NM_003620.3	NP_003611.1:p.(Arg227Ter)	NC_000017.10:g.58701088C>T	VUS	1 lab	62cbd35abf
12:122693045 DIABLO G>A	12	122693045	122693045	G	A	DIABLO	c.444C>T	NM_001278304.1	NP_001265233.1:p.(Ser148=)	NC_000012.11:g.122693045G>A	(Likely) benign	1 lab	62cd1a9265
12:124821616 NCOR2 A>G	12	124821616	124821616	A	G	NCOR2	c.5798T>C	NM_006312.5	NP_006303.4:p.(Val1933Ala)	NC_000012.11:g.124821616A>G	(Likely) benign	1 lab	62cdff5eae
7:151878670 KMT2C T>A	7	151878670	151878670	T	A	KMT2C	c.6275A>T	NM_170606.2	NP_733751.2:p.(Asp2092Val)	NC_000007.13:g.151878670T>A	VUS	1 lab	62d05f09bb
20:43629982 STK4 G>A	20	43629982	43629982	G	A	STK4	c.1135G>A	NM_006282.2	NP_006273.1:p.(Gly379Arg)	NC_000020.10:g.43629982G>A	(Likely) benign	1 lab	62d133f294
5:32738886 NPR3 G>A	5	32738886	32738886	G	A	NPR3	c.893-84G>A	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32738886G>A	(Likely) benign	1 lab	62d2c6af59
6:70926648 COL9A1 G>T	6	70926648	70926648	G	T	COL9A1	c.2718C>A	NM_001851.4	NP_001842.3:p.(Cys906Ter)	NC_000006.11:g.70926648G>T	VUS	1 lab	62d54da0eb
12:49433037 KMT2D T>C	12	49433037	49433037	T	C	KMT2D	c.8334A>G	NM_003482.3	NP_003473.3:p.(Pro2778=)	NC_000012.11:g.49433037T>C	(Likely) benign	1 lab	62d68c2d8f
16:46696204 VPS35 C>A	16	46696204	46696204	C	A	VPS35	c.2018G>T	NM_018206.5	NP_060676.2:p.(Cys673Phe)	NC_000016.9:g.46696204C>A	VUS	1 lab	62d89372b3
10:73571270 CDH23 G>A	10	73571270	73571270	G	A	CDH23	c.9201G>A	NM_022124.5	NP_071407.4:p.(Met3067Ile)	NC_000010.10:g.73571270G>A	VUS	1 lab	62d9b15e4f
4:1388817 CRIPAK C>A	4	1388817	1388817	C	A	CRIPAK	c.518C>A	NM_175918.3	NP_787114.2:p.(Pro173Gln)	NC_000004.11:g.1388817C>A	(Likely) benign	1 lab	62dbe83437
15:30906426 GOLGA8H G>A	15	30906426	30906426	G	A	GOLGA8H	c.1645G>A	NM_001282490.1	NP_001269419.1:p.(Ala549Thr)	NC_000015.9:g.30906426G>A	(Likely) benign	1 lab	62dc813bd8
6:137528119 IFNGR1 C>T	6	137528119	137528119	C	T	IFNGR1	c.58G>A	NM_001363527.1	NP_001350456.1:p.(Val20Ile)	NC_000006.11:g.137528119C>T	VUS	1 lab	62dd19a22b
2:179563555 TTN G>T	2	179563555	179563555	G	T	TTN	c.30754+15C>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179563555G>T	(Likely) benign	1 lab	62dd6477f9
9:124091280 GSN T>C	9	124091280	124091280	T	C	GSN	c.1982T>C	NM_001127663.1	NP_001121135.2:p.(Ile661Thr)	NC_000009.11:g.124091280T>C	VUS	1 lab	62de02d0f2
11:46727221 ZNF408 A>G	11	46727221	46727221	A	G	ZNF408	c.1971A>G	NM_024741.2	NP_079017.1:p.(Gln657=)	NC_000011.9:g.46727221A>G	(Likely) benign	1 lab	62deec755a
14:23884876 MYH7 T>A	14	23884876	23884876	T	A	MYH7	c.5119A>T	NM_000257.2	NP_000248.2:p.(Ile1707Phe)	NC_000014.8:g.23884876T>A	VUS	1 lab	62def117e5
4:25821443 SEL1L3 C>T	4	25821443	25821443	C	T	SEL1L3	c.1410G>A	NM_015187.5	NP_056002.2:p.(Glu470=)	NC_000004.11:g.25821443C>T	(Likely) benign	1 lab	62def7a7db
2:114253271 ZNG1B CAG>C	2	114253271	114253274	CAG	C	ZNG1B	c.1141_1142del	NM_172003.3	NP_742000.1:p.(Glu381LysfsTer27)	NC_000002.11:g.114253273_114253274del	VUS	1 lab	62e00612e8
2:191850375 STAT1 T>A	2	191850375	191850375	T	A	STAT1	c.1233A>T	NM_007315.3	NP_009330.1:p.(Glu411Asp)	NC_000002.11:g.191850375T>A	VUS	1 lab	62e0088568
17:17696981 RAI1 C>T	17	17696981	17696981	C	T	RAI1	c.719C>T	NM_030665.3	NP_109590.3:p.(Thr240Ile)	NC_000017.10:g.17696981C>T	(Likely) benign	1 lab	62e07ebc2e
1:186057377 HMCN1 G>A	1	186057377	186057377	G	A	HMCN1	c.9546G>A	NM_031935.2	NP_114141.2:p.(Thr3182=)	NC_000001.10:g.186057377G>A	(Likely) benign	1 lab	62e1d0930f
1:2238191 SKI A>C	1	2238191	2238191	A	C	SKI	c.2174A>C	NM_003036.3	NP_003027.1:p.(Glu725Ala)	NC_000001.10:g.2238191A>C	(Likely) benign	1 lab	62e5732190
2:170042445 LRP2 C>T	2	170042445	170042445	C	T	LRP2	c.9413G>A	NM_004525.3	NP_004516.2:p.(Arg3138His)	NC_000002.11:g.170042445C>T	(Likely) benign	1 lab	62e6b08d39
4:149357300 NR3C2 G>A	4	149357300	149357300	G	A	NR3C2	c.713C>T	NM_000901.4	NP_000892.2:p.(Ser238Phe)	NC_000004.11:g.149357300G>A	VUS	1 lab	62e6d3d0ed
10:85992291 LRIT1 G>A	10	85992291	85992291	G	A	LRIT1	c.1264C>T	NM_015613.2	NP_056428.1:p.(Arg422Trp)	NC_000010.10:g.85992291G>A	VUS	1 lab	62e6d960cf
17:1585167 PRPF8 G>A	17	1585167	1585167	G	A	PRPF8	c.600C>T	NM_006445.3	NP_006436.3:p.(Asp200=)	NC_000017.10:g.1585167G>A	(Likely) benign	1 lab	62e6f52fc9
X:110574171 DCX G>A	X	110574171	110574171	G	A	DCX	c.907C>T	NM_178153.2	NP_835366.1:p.(Arg303Ter)	NC_000023.10:g.110574171G>A	(Likely) pathogenic	1 lab	62e727c424
X:102004488 GPRASP3 A>C	X	102004488	102004488	A	C	GPRASP3	c.565A>C	NM_001142524.2	NP_001135996.1:p.(Asn189His)	NC_000023.10:g.102004488A>C	(Likely) benign	1 lab	62e761605b
14:64691224 SYNE2 G>T	14	64691224	64691224	G	T	SYNE2	c.20428G>T	NM_182914.2	NP_878918.2:p.(Asp6810Tyr)	NC_000014.8:g.64691224G>T	(Likely) benign	1 lab	62e899ffc0
5:176638614 NSD1 C>T	5	176638614	176638614	C	T	NSD1	c.3214C>T	NM_022455.4	NP_071900.2:p.(Arg1072Ter)	NC_000005.9:g.176638614C>T	(Likely) pathogenic	1 lab	62e8e127cb
21:33077735 SCAF4 C>T	21	33077735	33077735	C	T	SCAF4	c.159+1G>A	NM_020706.2	NP_065757.1:p.?	NC_000021.8:g.33077735C>T	VUS	1 lab	f3ec982ee8
X:110654039 DCX G>A	X	110654039	110654039	G	A	DCX	c.164C>T	NM_000555.3	NP_000546.2:p.(Thr55Ile)	NC_000023.10:g.110654039G>A	(Likely) benign	1 lab	62eb468d23
17:29486059 NF1 T>G	17	29486059	29486059	T	G	NF1	c.236T>G	NM_000267.3	NP_000258.1:p.(Leu79Ter)	NC_000017.10:g.29486059T>G	(Likely) pathogenic	1 lab	62ec00a8b3
13:113826198 PROZ G>A	13	113826198	113826198	G	A	PROZ	c.1048G>A	NM_001256134.1	NP_001243063.1:p.(Gly350Arg)	NC_000013.10:g.113826198G>A	(Likely) benign	1 lab	62ee0139d6
1:227083236 PSEN2 C>T	1	227083236	227083236	C	T	PSEN2	c.1303C>T	NM_000447.2	NP_000438.2:p.(Arg435Trp)	NC_000001.10:g.227083236C>T	VUS	1 lab	62ee8c7dc3
18:77496501 CTDP1 G>A	18	77496501	77496501	G	A	CTDP1	c.2564G>A	NM_048368.3	NP_430255.2:p.(Arg855Gln)	NC_000018.9:g.77496501G>A	(Likely) benign	1 lab	62efe0101a
7:42018185 GLI3 C>T	7	42018185	42018185	C	T	GLI3	c.1647+13G>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42018185C>T	(Likely) benign	1 lab	62f53aabdb
8:10470309 RP1L1 G>A	8	10470309	10470309	G	A	RP1L1	c.1299C>T	NM_178857.5	NP_849188.4:p.(Arg433=)	NC_000008.10:g.10470309G>A	(Likely) benign	1 lab	62f59c2389
X:106844895 FRMPD3 C>T	X	106844895	106844895	C	T	FRMPD3	c.3725C>T	NM_032428.2	NP_115804.1:p.(Ser1242Leu)	NC_000023.10:g.106844895C>T	(Likely) benign	1 lab	62f5dce770
17:18022937 MYO15A G>C	17	18022937	18022937	G	C	MYO15A	c.823G>C	NM_016239.3	NP_057323.3:p.(Gly275Arg)	NC_000017.10:g.18022937G>C	VUS	1 lab	62f5e52e61
14:20181357 OR11H2 AC>A	14	20181357	20181358	AC	A	OR11H2	c.685del	NM_001197287.2	NP_001184216.2:p.(Val229CysfsTer36)	NC_000014.8:g.20181358del	(Likely) benign	1 lab	62f936d2d8
18:50734134 DCC G>A	18	50734134	50734134	G	A	DCC	c.1808G>A	NM_005215.3	NP_005206.2:p.(Arg603His)	NC_000018.9:g.50734134G>A	VUS	1 lab	62fa6aa153
3:41277216 CTNNB1 A>AG	3	41277216	41277221	A	AG	CTNNB1	c.1690dup	NM_001904.3	NP_001895.1:p.(Val564GlyfsTer8)	NC_000003.11:g.41277221dup	(Likely) pathogenic	1 lab	62fbae3519
X:109696808 RTL9 C>T	X	109696808	109696808	C	T	RTL9	c.2963C>T	NM_020769.2	NP_065820.1:p.(Thr988Met)	NC_000023.10:g.109696808C>T	(Likely) benign	1 lab	62fc6a967d
1:225607093 LBR C>T	1	225607093	225607093	C	T	LBR	c.512G>A	NM_194442.2	NP_919424.1:p.(Arg171Lys)	NC_000001.10:g.225607093C>T	VUS	1 lab	62fd2a3009
X:17394211 NHS TCGG>T	X	17394211	17394230	TCGG	T	NHS	c.348_350del	NM_001291867.2	NP_001278796.1:p.(Ala117del)	NC_000023.10:g.17394228_17394230del	VUS	1 lab	62fe1bf2ed
2:191125934 HIBCH T>C	2	191125934	191125934	T	C	HIBCH	c.465A>G	NM_014362.3	NP_055177.2:p.(Gln155=)	NC_000002.11:g.191125934T>C	(Likely) benign	1 lab	62fe3088e8
11:726676 EPS8L2 G>A	11	726676	726676	G	A	EPS8L2	c.1992G>A	NM_022772.3	NP_073609.2:p.(Glu664=)	NC_000011.9:g.726676G>A	(Likely) benign	1 lab	62ff52b503
11:111779709 CRYAB G>A	11	111779709	111779709	G	A	CRYAB	c.325-18C>T	NM_001885.2	NP_001876.1:p.?	NC_000011.9:g.111779709G>A	(Likely) benign	1 lab	6300a89359
14:23886692 MYH7 G>A	14	23886692	23886692	G	A	MYH7	c.4353+20C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886692G>A	(Likely) benign	1 lab	630147e289
1:12023656 PLOD1 G>A	1	12023656	12023656	G	A	PLOD1	c.1165G>A	NM_000302.3	NP_000293.2:p.(Glu389Lys)	NC_000001.10:g.12023656G>A	(Likely) benign	1 lab	6301d7a00a
11:134131680 ACAD8 C>T	11	134131680	134131680	C	T	ACAD8	c.988C>T	NM_014384.2	NP_055199.1:p.(Arg330Trp)	NC_000011.9:g.134131680C>T	VUS	1 lab	63023e0b9a
15:49030464 CEP152 T>C	15	49030464	49030464	T	C	CEP152	c.5115A>G	NM_001194998.1	NP_001181927.1:p.(Pro1705=)	NC_000015.9:g.49030464T>C	(Likely) benign	1 lab	6302591ab2
14:64656954 SYNE2 A>C	14	64656954	64656954	A	C	SYNE2	c.18037A>C	NM_182914.2	NP_878918.2:p.(Arg6013=)	NC_000014.8:g.64656954A>C	(Likely) benign	1 lab	63030f99d4
X:140993800 MAGEC1 C>T	X	140993800	140993800	C	T	MAGEC1	c.610C>T	NM_005462.4	NP_005453.2:p.(Arg204Cys)	NC_000023.10:g.140993800C>T	(Likely) benign	1 lab	6303240b85
2:219362547 USP37 G>T	2	219362547	219362547	G	T	USP37	c.1191C>A	NM_020935.3	NP_065986.3:p.(Ile397=)	NC_000002.11:g.219362547G>T	(Likely) benign	1 lab	6303327c0e
2:87017564 CD8A G>T	2	87017564	87017564	G	T	CD8A	c.290C>A	NM_001145873.1	NP_001139345.1:p.(Thr97Asn)	NC_000002.11:g.87017564G>T	(Likely) benign	1 lab	6303542dc2
17:29490241 NF1 TG>T	17	29490241	29490243	TG	T	NF1	c.328del	NM_001042492.3	NP_001035957.1:p.(Val110SerfsTer55)	NC_000017.10:g.29490243del	(Likely) pathogenic	1 lab	6303dd8b6c
9:139265144 CARD9 G>A	9	139265144	139265144	G	A	CARD9	c.637C>T	NM_052813.4	NP_434700.2:p.(Leu213Phe)	NC_000009.11:g.139265144G>A	VUS	1 lab	6304d92de1
18:67816263 RTTN T>G	18	67816263	67816263	T	G	RTTN	c.2183A>C	NM_173630.3	NP_775901.3:p.(Asp728Ala)	NC_000018.9:g.67816263T>G	VUS	1 lab	6305484253
X:134125190 SMIM10 T>C	X	134125190	134125190	T	C	SMIM10	c.65T>C	NM_001163438.2	NP_001156910.1:p.(Leu22Pro)	NC_000023.10:g.134125190T>C	VUS	1 lab	63055b50b2
3:132423209 NPHP3 G>A	3	132423209	132423209	G	A	NPHP3	c.1357C>T	NM_153240.4	NP_694972.3:p.(Leu453=)	NC_000003.11:g.132423209G>A	(Likely) benign	1 lab	63080a07bf
5:179248023 SQSTM1 C>G	5	179248023	179248023	C	G	SQSTM1	c.87C>G	NM_003900.5	NP_003891.1:p.(Pro29=)	NC_000005.9:g.179248023C>G	(Likely) benign	1 lab	6308f30859
15:23891234 MAGEL2 G>A	15	23891234	23891234	G	A	MAGEL2	c.1656C>T	NM_019066.4	NP_061939.3:p.(Pro552=)	NC_000015.9:g.23891234G>A	(Likely) benign	1 lab	6309c4a6dd
X:110653321 DCX A>G	X	110653321	110653321	A	G	DCX	c.549T>C	NM_000555.3	NP_000546.2:p.(Arg183=)	NC_000023.10:g.110653321A>G	(Likely) benign	1 lab	6309d408c0
2:25016120 PTRHD1 G>T	2	25016120	25016120	G	T	PTRHD1	c.127C>A	NM_001013663.1	NP_001013685.1:p.(Pro43Thr)	NC_000002.11:g.25016120G>T	(Likely) benign	1 lab	630a00a41c
X:25025355 ARX A>AGGCGGCGGC	X	25025355	25025376	A	AGGCGGCGGC	ARX	c.1312_1320dup	NM_139058.2	NP_620689.1:p.(Ala438_Ala440dup)	NC_000023.10:g.25025368_25025376dup	VUS	1 lab	630a47e7db
X:47041576 RBM10 C>G	X	47041576	47041576	C	G	RBM10	c.1996C>G	NM_001204468.1	NP_001191397.1:p.(Gln666Glu)	NC_000023.10:g.47041576C>G	(Likely) benign	1 lab	630d96d096
1:46657853 POMGNT1 G>C	1	46657853	46657853	G	C	POMGNT1	c.1456C>G	NM_017739.3	NP_060209.3:p.(Arg486Gly)	NC_000001.10:g.46657853G>C	VUS	1 lab	630430d6bd
17:18046124 MYO15A C>T	17	18046124	18046124	C	T	MYO15A	c.5880C>T	NM_016239.3	NP_057323.3:p.(His1960=)	NC_000017.10:g.18046124C>T	(Likely) benign	1 lab	630e6c2dbf
17:27068978 NEK8 G>A	17	27068978	27068978	G	A	NEK8	c.2052G>A	NM_178170.3	NP_835464.1:p.(Ser684=)	NC_000017.10:g.27068978G>A	(Likely) benign	1 lab	630f9a5208
9:130444799 STXBP1 C>T	9	130444799	130444799	C	T	STXBP1	c.1662C>T	NM_003165.3	NP_003156.1:p.(Tyr554=)	NC_000009.11:g.130444799C>T	(Likely) benign	1 lab	630fe5a2f1
X:48341062 FTSJ1 G>A	X	48341062	48341062	G	A	FTSJ1	c.831G>A	NM_177439.2	NP_803188.1:p.(Thr277=)	NC_000023.10:g.48341062G>A	(Likely) benign	1 lab	6310a6374c
17:41256109 BRCA1 G>A	17	41256109	41256109	G	A	BRCA1	c.441+30C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256109G>A	(Likely) benign	1 lab	6311fc0064
16:3063631 CLDN9 C>G	16	3063631	3063631	C	G	CLDN9	c.268C>G	NM_020982.4	NP_066192.1:p.(Leu90Val)	NC_000016.9:g.3063631C>G	VUS	1 lab	6313afca21
5:68715665 MARVELD2 C>T	5	68715665	68715665	C	T	MARVELD2	c.453C>T	NM_001038603.2	NP_001033692.2:p.(Asp151=)	NC_000005.9:g.68715665C>T	(Likely) benign	1 lab	631628414d
22:39411606 APOBEC3C G>A	22	39411606	39411606	G	A	APOBEC3C	c.24G>A	NM_014508.3	NP_055323.2:p.(Pro8=)	NC_000022.10:g.39411606G>A	(Likely) benign	1 lab	6316b1c92f
X:153587402 FLNA G>A	X	153587402	153587402	G	A	FLNA	c.4424C>T	NM_001110556.2	NP_001104026.1:p.(Thr1475Ile)	NC_000023.10:g.153587402G>A	VUS	1 lab	63176431a3
5:127611847 FBN2 C>T	5	127611847	127611847	C	T	FBN2	c.7477G>A	NM_001999.3	NP_001990.2:p.(Asp2493Asn)	NC_000005.9:g.127611847C>T	VUS	1 lab	63186f4150
6:44271132 AARS2 G>A	6	44271132	44271132	G	A	AARS2	c.2036C>T	NM_020745.3	NP_065796.1:p.(Ala679Val)	NC_000006.11:g.44271132G>A	(Likely) benign	1 lab	63190875c6
X:53602749 HUWE1 C>T	X	53602749	53602749	C	T	HUWE1	c.5885-1G>A	NM_031407.6	NP_113584.3:p.?	NC_000023.10:g.53602749C>T	VUS	1 lab	631923ef44
1:32671434 IQCC G>T	1	32671434	32671434	G	T	IQCC	c.152G>T	NM_001160042.1	NP_001153514.1:p.(Arg51Leu)	NC_000001.10:g.32671434G>T	(Likely) benign	1 lab	631a1ebe88
13:32912295 BRCA2 C>T	13	32912295	32912295	C	T	BRCA2	c.3803C>T	NM_000059.3	NP_000050.2:p.(Ser1268Phe)	NC_000013.10:g.32912295C>T	VUS	1 lab	631b0b697c
16:20565228 ACSM2B G>C	16	20565228	20565228	G	C	ACSM2B	c.611C>G	NM_182617.3	NP_872423.3:p.(Thr204Ser)	NC_000016.9:g.20565228G>C	(Likely) benign	1 lab	631dd26c77
6:39311142 KIF6 C>T	6	39311142	39311142	C	T	KIF6	c.852G>A	NM_001351566.1	NP_001338495.1:p.(Lys284=)	NC_000006.11:g.39311142C>T	(Likely) benign	1 lab	631e4dd857
15:62302765 VPS13C T>G	15	62302765	62302765	T	G	VPS13C	c.917A>C	NM_001018088.2	NP_001018098.1:p.(Tyr306Ser)	NC_000015.9:g.62302765T>G	VUS	1 lab	631fb7d3a4
1:39826499 MACF1 T>C	1	39826499	39826499	T	C	MACF1	c.6093T>C	NM_012090.5	NP_036222.3:p.(Tyr2031=)	NC_000001.10:g.39826499T>C	(Likely) benign	1 lab	63213e0102
15:74948185 EDC3 G>C	15	74948185	74948185	G	C	EDC3	c.709C>G	NM_001142443.2	NP_001135915.1:p.(Pro237Ala)	NC_000015.9:g.74948185G>C	(Likely) benign	1 lab	6321b2d846
2:47233184 TTC7A G>A	2	47233184	47233184	G	A	TTC7A	c.1189G>A	NM_001288951.1	NP_001275880.1:p.(Val397Ile)	NC_000002.11:g.47233184G>A	(Likely) benign	1 lab	6321f07140
4:126370601 FAT4 T>G	4	126370601	126370601	T	G	FAT4	c.8436T>G	NM_001291303.1	NP_001278232.1:p.(Ser2812=)	NC_000004.11:g.126370601T>G	(Likely) benign	1 lab	63233ac95b
10:95360172 RBP4 T>C	10	95360172	95360172	T	C	RBP4	c.333A>G	NM_001323517.1	NP_001310446.1:p.(Val111=)	NC_000010.10:g.95360172T>C	(Likely) benign	1 lab	63267c5df4
1:154130197 TPM3 T>C	1	154130197	154130197	T	C	TPM3	c.744A>G	NM_001278189.1	NP_001265118.1:p.(Ile248Met)	NC_000001.10:g.154130197T>C	VUS	1 lab	6326817821
Y:14870532 USP9Y G>C	Y	14870532	14870532	G	C	USP9Y	c.1726G>C	NM_004654.3	NP_004645.2:p.(Glu576Gln)	NC_000024.9:g.14870532G>C	VUS	1 lab	63277e0bf4
13:100764314 PCCA C>T	13	100764314	100764314	C	T	PCCA	c.299C>T	NM_000282.3	NP_000273.2:p.(Ser100Phe)	NC_000013.10:g.100764314C>T	VUS	1 lab	6327fc8b16
2:122288551 RNU4ATAC C>CT	2	122288551	122288555	C	CT	RNU4ATAC	n.100dup	NR_023343.1		NC_000002.11:g.122288555dup	VUS	1 lab	632a0ea7c7
12:26869177 ITPR2 T>G	12	26869177	26869177	T	G	ITPR2	c.526-2A>C	NM_002223.3	NP_002214.2:p.?	NC_000012.11:g.26869177T>G	VUS	1 lab	632a14c215
19:42776353 CIC C>T	19	42776353	42776353	C	T	CIC	c.418C>T	NM_001304815.1	NP_001291744.1:p.(Arg140Trp)	NC_000019.9:g.42776353C>T	VUS	1 lab	632b58c52e
16:1252067 CACNA1H C>T	16	1252067	1252067	C	T	CACNA1H	c.1617C>T	NM_021098.2	NP_066921.2:p.(Pro539=)	NC_000016.9:g.1252067C>T	(Likely) benign	1 lab	632dc905b6
1:43213072 P3H1 C>T	1	43213072	43213072	C	T	P3H1	c.1926G>A	NM_001243246.1	NP_001230175.1:p.(Gln642=)	NC_000001.10:g.43213072C>T	(Likely) benign	1 lab	632f90071a
X:133087088 GPC3 G>T	X	133087088	133087088	G	T	GPC3	c.326C>A	NM_001164617.1	NP_001158089.1:p.(Ala109Glu)	NC_000023.10:g.133087088G>T	VUS	1 lab	632fc5073d
7:110764681 LRRN3 A>C	7	110764681	110764681	A	C	LRRN3	c.1853A>C	NM_001099660.1	NP_001093130.1:p.(Gln618Pro)	NC_000007.13:g.110764681A>C	(Likely) benign	1 lab	6330441745
10:50678819 ERCC6 C>T	10	50678819	50678819	C	T	ERCC6	c.3187G>A	NM_000124.2	NP_000115.1:p.(Val1063Ile)	NC_000010.10:g.50678819C>T	(Likely) benign	1 lab	63334e5fa4
16:67680370 CARMIL2 G>A	16	67680370	67680370	G	A	CARMIL2	c.416G>A	NM_001013838.2	NP_001013860.1:p.(Arg139Gln)	NC_000016.9:g.67680370G>A	(Likely) benign	1 lab	63338a41e4
6:79664523 PHIP A>T	6	79664523	79664523	A	T	PHIP	c.4053+8T>A	NM_017934.6	NP_060404.4:p.?	NC_000006.11:g.79664523A>T	VUS	1 lab	633422ed93
10:100190959 HPS1 G>A	10	100190959	100190959	G	A	HPS1	c.597C>T	NM_001322477.1	NP_001309406.1:p.(Pro199=)	NC_000010.10:g.100190959G>A	(Likely) benign	1 lab	633474c163
10:91203541 SLC16A12 G>A	10	91203541	91203541	G	A	SLC16A12	c.276C>T	NM_213606.3	NP_998771.3:p.(Ser92=)	NC_000010.10:g.91203541G>A	(Likely) benign	1 lab	6334e5351a
1:3334548 PRDM16 C>T	1	3334548	3334548	C	T	PRDM16	c.2848C>T	NM_022114.3	NP_071397.3:p.(Arg950Ter)	NC_000001.10:g.3334548C>T	(Likely) pathogenic	1 lab	633a59fbe2
11:57367765 SERPING1 C>T	11	57367765	57367765	C	T	SERPING1	c.465C>T	NM_000062.2	NP_000053.2:p.(His155=)	NC_000011.9:g.57367765C>T	(Likely) benign	1 lab	633b0486a1
1:43905057 SZT2 C>G	1	43905057	43905057	C	G	SZT2	c.6650C>G	NM_015284.4	NP_056099.3:p.(Pro2217Arg)	NC_000001.10:g.43905057C>G	VUS	1 lab	f3fe16d651
13:115090731 CHAMP1 T>G	13	115090731	115090731	T	G	CHAMP1	c.1414T>G	NM_032436.3	NP_115812.1:p.(Ser472Ala)	NC_000013.10:g.115090731T>G	(Likely) benign	1 lab	633e177bc9
15:23890231 MAGEL2 G>A	15	23890231	23890231	G	A	MAGEL2	c.2659C>T	NM_019066.4	NP_061939.3:p.(Arg887Trp)	NC_000015.9:g.23890231G>A	(Likely) benign	1 lab	633e9f2cf5
7:100463839 SLC12A9 G>A	7	100463839	100463839	G	A	SLC12A9	c.2357G>A	NM_020246.4	NP_064631.2:p.(Arg786Gln)	NC_000007.13:g.100463839G>A	(Likely) benign	1 lab	633eec6990
1:44437728 DPH2 C>T	1	44437728	44437728	C	T	DPH2	c.575C>T	NM_001319170.1	NP_001306099.1:p.(Ala192Val)	NC_000001.10:g.44437728C>T	(Likely) benign	1 lab	634392435a
19:54687564 MBOAT7 C>A	19	54687564	54687564	C	A	MBOAT7	c.334-1G>T	NM_024298.4	NP_077274.3:p.?	NC_000019.9:g.54687564C>A	(Likely) pathogenic	1 lab	6344351285
20:2384078 TGM6 G>A	20	2384078	2384078	G	A	TGM6	c.1025G>A	NM_198994.2	NP_945345.2:p.(Arg342Gln)	NC_000020.10:g.2384078G>A	VUS	1 lab	6345d476f7
1:97544679 DPYD G>C	1	97544679	97544679	G	C	DPYD	c.2931C>G	NM_000110.3	NP_000101.2:p.(Thr977=)	NC_000001.10:g.97544679G>C	(Likely) benign	1 lab	6347ba32c4
Y:6932114 TBL1Y T>G	Y	6932114	6932114	T	G	TBL1Y	c.381T>G	NM_033284.1	NP_150600.1:p.(Ala127=)	NC_000024.9:g.6932114T>G	(Likely) benign	1 lab	63487d62f9
2:157186308 NR4A2 TG>T	2	157186308	157186311	TG	T	NR4A2	c.390del	NM_006186.4	NP_006177.1:p.(Thr131ProfsTer32)	NC_000002.11:g.157186311del	(Likely) pathogenic	1 lab	6349e87066
X:140786505 SPANXD C>T	X	140786505	140786505	C	T	SPANXD	c.58G>A	NM_032417.3	NP_115793.1:p.(Glu20Lys)	NC_000023.10:g.140786505C>T	(Likely) benign	1 lab	634a279ea9
1:237947165 RYR2 G>T	1	237947165	237947165	G	T	RYR2	c.12153G>T	NM_001035.2	NP_001026.2:p.(Ala4051=)	NC_000001.10:g.237947165G>T	(Likely) benign	1 lab	634c3a9da8
3:20225256 SGO1 G>A	3	20225256	20225256	G	A	SGO1	c.183C>T	NM_001199251.3	NP_001186180.1:p.(Asn61=)	NC_000003.11:g.20225256G>A	(Likely) benign	1 lab	634c988002
17:39018824 KRT12 G>A	17	39018824	39018824	G	A	KRT12	c.1380C>T	NM_000223.4	NP_000214.1:p.(Ser460=)	NC_000017.10:g.39018824G>A	(Likely) benign	1 lab	634d978b99
2:179433011 TTN G>A	2	179433011	179433011	G	A	TTN	c.77848C>T	NM_001267550.1	NP_001254479.1:p.(Leu25950Phe)	NC_000002.11:g.179433011G>A	(Likely) benign	1 lab	634dd02d5a
11:46722627 ZNF408 G>C	11	46722627	46722627	G	C	ZNF408	c.30G>C	NM_024741.2	NP_079017.1:p.(Glu10Asp)	NC_000011.9:g.46722627G>C	(Likely) benign	1 lab	634f8128f7
13:36909519 SPART G>A	13	36909519	36909519	G	A	SPART	c.449C>T	NM_015087.5	NP_055902.1:p.(Ala150Val)	NC_000013.10:g.36909519G>A	(Likely) benign	1 lab	6350dbfc2f
12:111885974 SH2B3 C>T	12	111885974	111885974	C	T	SH2B3	c.1596C>T	NM_005475.2	NP_005466.1:p.(Pro532=)	NC_000012.11:g.111885974C>T	(Likely) benign	1 lab	63526230a6
17:41244503 BRCA1 T>G	17	41244503	41244503	T	G	BRCA1	c.3045A>C	NM_007294.3	NP_009225.1:p.(Gly1015=)	NC_000017.10:g.41244503T>G	(Likely) benign	1 lab	635278320b
2:179590312 TTN T>C	2	179590312	179590312	T	C	TTN	c.20619A>G	NM_001267550.1	NP_001254479.1:p.(Leu6873=)	NC_000002.11:g.179590312T>C	(Likely) benign	1 lab	6354eb6235
21:47836652 PCNT C>T	21	47836652	47836652	C	T	PCNT	c.6820C>T	NM_006031.5	NP_006022.3:p.(Pro2274Ser)	NC_000021.8:g.47836652C>T	VUS	1 lab	6355112b05
X:15349805 PIGA A>G	X	15349805	15349805	A	G	PIGA	c.248T>C	NM_002641.3	NP_002632.1:p.(Leu83Pro)	NC_000023.10:g.15349805A>G	VUS	1 lab	635551f290
2:8873605 KIDINS220 C>G	2	8873605	8873605	C	G	KIDINS220	c.3965G>C	NM_001348738.1	NP_001335667.1:p.(Gly1322Ala)	NC_000002.11:g.8873605C>G	VUS	1 lab	6355cf08e9
3:154855956 MME G>A	3	154855956	154855956	G	A	MME	c.786G>A	NM_007289.3	NP_009220.2:p.(Leu262=)	NC_000003.11:g.154855956G>A	(Likely) benign	1 lab	6355fdc0fd
X:20193322 RPS6KA3 C>T	X	20193322	20193322	C	T	RPS6KA3	c.1187G>A	NM_004586.2	NP_004577.1:p.(Ser396Asn)	NC_000023.10:g.20193322C>T	(Likely) benign	1 lab	63561e20b0
5:176683945 NSD1 T>G	5	176683945	176683945	T	G	NSD1	c.4766-7T>G	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176683945T>G	VUS	1 lab	6356762f84
17:58677906 PPM1D C>G	17	58677906	58677906	C	G	PPM1D	c.131C>G	NM_003620.4	NP_003611.1:p.(Ser44Trp)	NC_000017.10:g.58677906C>G	(Likely) benign	1 lab	f402798722
1:156146378 SEMA4A G>T	1	156146378	156146378	G	T	SEMA4A	c.1876G>T	NM_001193300.1	NP_001180229.1:p.(Ala626Ser)	NC_000001.10:g.156146378G>T	VUS	1 lab	63588e6d2e
12:49434056 KMT2D G>A	12	49434056	49434056	G	A	KMT2D	c.7497C>T	NM_003482.3	NP_003473.3:p.(Pro2499=)	NC_000012.11:g.49434056G>A	(Likely) benign	1 lab	6359ccd836
X:141291432 MAGEC2 C>A	X	141291432	141291432	C	A	MAGEC2	c.342G>T	NM_016249.3	NP_057333.1:p.(Glu114Asp)	NC_000023.10:g.141291432C>A	(Likely) benign	1 lab	6359e04068
8:145738725 RECQL4 C>T	8	145738725	145738725	C	T	RECQL4	c.2339G>A	NM_004260.3	NP_004251.3:p.(Arg780Gln)	NC_000008.10:g.145738725C>T	VUS	1 lab	635b637cf1
18:10487918 APCDD1 C>T	18	10487918	10487918	C	T	APCDD1	c.1428C>T	NM_153000.5	NP_694545.1:p.(Leu476=)	NC_000018.9:g.10487918C>T	(Likely) benign	1 lab	f406590ed5
10:104173584 PSD G>C	10	104173584	104173584	G	C	PSD	c.1495C>G	NM_002779.5	NP_002770.3:p.(Pro499Ala)	NC_000010.10:g.104173584G>C	VUS	1 lab	635d0dbc22
1:216172376 USH2A A>C	1	216172376	216172376	A	C	USH2A	c.6510T>G	NM_206933.2	NP_996816.2:p.(Ser2170Arg)	NC_000001.10:g.216172376A>C	VUS	1 lab	635e2b9f29
1:156821145 INSRR G>A	1	156821145	156821145	G	A	INSRR	c.1166C>T	NM_014215.3	NP_055030.1:p.(Ala389Val)	NC_000001.10:g.156821145G>A	VUS	1 lab	635e5bcc0d
16:57157362 CPNE2 G>T	16	57157362	57157362	G	T	CPNE2	c.904G>T	NM_152727.6	NP_689940.3:p.(Gly302Ter)	NC_000016.9:g.57157362G>T	VUS	1 lab	635f23a5ee
19:3771880 RAX2 C>T	19	3771880	3771880	C	T	RAX2	c.-9-131G>A	NM_032753.4	NP_116142.1:p.?	NC_000019.9:g.3771880C>T	(Likely) benign	1 lab	f40c1538db
9:132576437 TOR1A G>C	9	132576437	132576437	G	C	TOR1A	c.813C>G	NM_000113.2	NP_000104.1:p.(Pro271=)	NC_000009.11:g.132576437G>C	(Likely) benign	1 lab	63600d3dcd
1:220089013 SLC30A10 CT>C	1	220089013	220089014	CT	C	SLC30A10	c.1235del	NM_018713.3	NP_061183.2:p.(Gln412ArgfsTer26)	NC_000001.10:g.220089014del	(Likely) pathogenic	1 lab	63608c77c2
19:40363951 FCGBP G>A	19	40363951	40363951	G	A	FCGBP	c.14691C>T	NM_003890.2	NP_003881.2:p.(Ile4897=)	NC_000019.9:g.40363951G>A	(Likely) benign	1 lab	6361ce8b82
3:46902193 MYL3 G>A	3	46902193	46902193	G	A	MYL3	c.280C>T	NM_000258.2	NP_000249.1:p.(Arg94Cys)	NC_000003.11:g.46902193G>A	VUS	1 lab	6361d6a427
6:167754987 TTLL2 C>T	6	167754987	167754987	C	T	TTLL2	c.1599C>T	NM_031949.5	NP_114155.4:p.(Cys533=)	NC_000006.11:g.167754987C>T	VUS	1 lab	63624bae0b
17:29670153 NF1 G>GTTTA	17	29670153	29670154	G	GTTTA	NF1	c.7126_7126+1insTTTA	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29670153_29670154insTTTA	(Likely) pathogenic	1 lab	63631d9e9f
2:232079626 ARMC9 G>A	2	232079626	232079626	G	A	ARMC9	c.260G>A	NM_001271466.3	NP_001258395.1:p.(Arg87Gln)	NC_000002.11:g.232079626G>A	(Likely) benign	1 lab	6363e29c81
14:76543024 IFT43 G>A	14	76543024	76543024	G	A	IFT43	c.300G>A	NM_052873.2	NP_443105.2:p.(Leu100=)	NC_000014.8:g.76543024G>A	(Likely) benign	1 lab	636444808f
7:99701320 AP4M1 G>A	7	99701320	99701320	G	A	AP4M1	c.543+5G>A	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99701320G>A	(Likely) benign	1 lab	6364957950
12:31237921 DDX11 A>G	12	31237921	31237921	A	G	DDX11	c.499A>G	NM_030653.3	NP_085911.2:p.(Arg167Gly)	NC_000012.11:g.31237921A>G	(Likely) benign	1 lab	6365ff76a7
12:133197103 P2RX2 C>T	12	133197103	133197103	C	T	P2RX2	c.601C>T	NM_001282164.1	NP_001269093.1:p.(Pro201Ser)	NC_000012.11:g.133197103C>T	VUS	1 lab	636640bd47
X:66943627 AR C>A	X	66943627	66943627	C	A	AR	c.2707C>A	NM_000044.4	NP_000035.2:p.(Gln903Lys)	NC_000023.10:g.66943627C>A	(Likely) pathogenic	1 lab	6368086743
12:10279161 CLEC7A T>C	12	10279161	10279161	T	C	CLEC7A	c.340+9A>G	NM_197947.2	NP_922938.1:p.?	NC_000012.11:g.10279161T>C	(Likely) benign	1 lab	63692d34ca
X:17744294 NHS C>T	X	17744294	17744294	C	T	NHS	c.2068C>T	NM_001291867.1	NP_001278796.1:p.(His690Tyr)	NC_000023.10:g.17744294C>T	VUS	1 lab	636b5938a8
19:38684290 SIPA1L3 C>T	19	38684290	38684290	C	T	SIPA1L3	c.4710C>T	NM_015073.2	NP_055888.1:p.(Asp1570=)	NC_000019.9:g.38684290C>T	(Likely) benign	1 lab	636be5aca6
20:31022910 ASXL1 G>T	20	31022910	31022910	G	T	ASXL1	c.2395G>T	NM_015338.5	NP_056153.2:p.(Asp799Tyr)	NC_000020.10:g.31022910G>T	(Likely) benign	1 lab	636eb583cf
6:161528941 MAP3K4 G>A	6	161528941	161528941	G	A	MAP3K4	c.2418G>A	NM_001291958.1	NP_001278887.1:p.(Gln806=)	NC_000006.11:g.161528941G>A	(Likely) benign	1 lab	636fc277f3
6:15523352 DTNBP1 C>T	6	15523352	15523352	C	T	DTNBP1	c.667G>A	NM_001271667.1	NP_001258596.1:p.(Asp223Asn)	NC_000006.11:g.15523352C>T	VUS	1 lab	6370608f7d
20:61468517 COL9A3 T>C	20	61468517	61468517	T	C	COL9A3	c.1686T>C	NM_001853.4	NP_001844.3:p.(Pro562=)	NC_000020.10:g.61468517T>C	(Likely) benign	1 lab	63706bae37
5:161529646 GABRG2 C>G	5	161529646	161529646	C	G	GABRG2	c.718C>G	NM_198903.2	NP_944493.2:p.(Pro240Ala)	NC_000005.9:g.161529646C>G	(Likely) benign	1 lab	6372734aaf
10:5435718 TUBAL3 G>A	10	5435718	5435718	G	A	TUBAL3	c.1103C>T	NM_024803.3	NP_079079.1:p.(Thr368Met)	NC_000010.10:g.5435718G>A	(Likely) benign	1 lab	6372815ec1
X:70339523 MED12 TTTC>T	X	70339523	70339529	TTTC	T	MED12	c.205-9_205-7del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70339527_70339529del	VUS	1 lab	637398ddf0
X:153578066 FLNA G>A	X	153578066	153578066	G	A	FLNA	c.7503C>T	NM_001110556.2	NP_001104026.1:p.(Tyr2501=)	NC_000023.10:g.153578066G>A	(Likely) benign	1 lab	6374b72abf
11:65620155 SNX32 G>A	11	65620155	65620155	G	A	SNX32	c.967G>A	NM_152760.3	NP_689973.2:p.(Ala323Thr)	NC_000011.9:g.65620155G>A	VUS	1 lab	63751aaaa1
5:179263448 SQSTM1 G>A	5	179263448	179263448	G	A	SQSTM1	c.926G>A	NM_001142298.1	NP_001135770.1:p.(Arg309Gln)	NC_000005.9:g.179263448G>A	VUS	1 lab	6375ac14c4
12:116714901 MED13L C>T	12	116714901	116714901	C	T	MED13L	c.36G>A	NM_015335.4	NP_056150.1:p.(Ala12=)	NC_000012.11:g.116714901C>T	(Likely) benign	1 lab	6375b61846
5:155771568 SGCD G>A	5	155771568	155771568	G	A	SGCD	c.73G>A	NM_000337.6	NP_000328.2:p.(Val25Met)	NC_000005.9:g.155771568G>A	VUS	1 lab	f40ca3e9e8
1:39824419 MACF1 A>G	1	39824419	39824419	A	G	MACF1	c.5808A>G	NM_012090.5	NP_036222.3:p.(Gln1936=)	NC_000001.10:g.39824419A>G	(Likely) benign	1 lab	63787bbba4
5:131630594 SLC22A4 C>T	5	131630594	131630594	C	T	SLC22A4	c.285C>T	NM_003059.3	NP_003050.2:p.(Leu95=)	NC_000005.9:g.131630594C>T	(Likely) benign	1 lab	6378a3f128
19:3907927 ATCAY G>GC	19	3907927	3907933	G	GC	ATCAY	c.544+16dup	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3907933dup	(Likely) benign	1 lab	6378bd5c09
16:31500257 SLC5A2 C>T	16	31500257	31500257	C	T	SLC5A2	c.1337C>T	NM_003041.3	NP_003032.1:p.(Ala446Val)	NC_000016.9:g.31500257C>T	VUS	1 lab	6379df8d3f
15:44858169 SPG11 G>A	15	44858169	44858169	G	A	SPG11	c.6882C>T	NM_025137.3	NP_079413.3:p.(Leu2294=)	NC_000015.9:g.44858169G>A	(Likely) benign	1 lab	637a1e1e45
8:145639137 SLC39A4 G>A	8	145639137	145639137	G	A	SLC39A4	c.1341C>T	NM_017767.2	NP_060237.2:p.(Asp447=)	NC_000008.10:g.145639137G>A	(Likely) benign	1 lab	637da70824
3:53834367 CACNA1D GAGA>G	3	53834367	53834379	GAGA	G	CACNA1D	c.5085_5087del	NM_000720.4	NP_000711.1:p.(Glu1695del)	NC_000003.11:g.53834377_53834379del	VUS	1 lab	f40e1cd18f
11:31824321 PAX6 G>A	11	31824321	31824321	G	A	PAX6	c.72C>T	NM_001310158.1	NP_001297087.1:p.(Ser24=)	NC_000011.9:g.31824321G>A	(Likely) benign	1 lab	637e63bee6
14:105688199 BRF1 G>A	14	105688199	105688199	G	A	BRF1	c.1101C>T	NM_001519.4	NP_001510.2:p.(Asp367=)	NC_000014.8:g.105688199G>A	(Likely) benign	1 lab	637e9a4e46
1:205180499 DSTYK G>C	1	205180499	205180499	G	C	DSTYK	c.165C>G	NM_015375.2	NP_056190.1:p.(Ile55Met)	NC_000001.10:g.205180499G>C	(Likely) benign	1 lab	637f84f725
22:21172810 PI4KA G>C	22	21172810	21172810	G	C	PI4KA	c.817C>G	NM_058004.3	NP_477352.3:p.(Pro273Ala)	NC_000022.10:g.21172810G>C	(Likely) benign	1 lab	6381a3661d
X:1718162 AKAP17A G>C	X	1718162	1718162	G	C	AKAP17A	c.989G>C	NM_005088.2	NP_005079.2:p.(Arg330Thr)	NC_000023.10:g.1718162G>C	VUS	1 lab	6382cb1ee0
10:48389699 RBP3 T>C	10	48389699	48389699	T	C	RBP3	c.1179A>G	NM_002900.2	NP_002891.1:p.(Thr393=)	NC_000010.10:g.48389699T>C	(Likely) benign	1 lab	6382e6a534
19:10291170 DNMT1 G>A	19	10291170	10291170	G	A	DNMT1	c.301C>T	NM_001379.3	NP_001370.1:p.(Arg101Trp)	NC_000019.9:g.10291170G>A	VUS	1 lab	6383a9cc83
11:1272821 MUC5B G>A	11	1272821	1272821	G	A	MUC5B	c.14711G>A	NM_002458.2	NP_002449.2:p.(Arg4904His)	NC_000011.9:g.1272821G>A	(Likely) benign	1 lab	6384bcd7be
19:46915903 CCDC8 C>T	19	46915903	46915903	C	T	CCDC8	c.165G>A	NM_032040.5	NP_114429.2:p.(Val55=)	NC_000019.9:g.46915903C>T	(Likely) benign	1 lab	638841f0b3
9:125760911 RABGAP1 G>A	9	125760911	125760911	G	A	RABGAP1	c.1240G>A	NM_012197.4	NP_036329.3:p.(Val414Ile)	NC_000009.11:g.125760911G>A	VUS	1 lab	63886f9d13
21:46932092 COL18A1 C>T	21	46932092	46932092	C	T	COL18A1	c.3801-10C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46932092C>T	(Likely) benign	1 lab	638a2d480e
9:99003099 HSD17B3 ACT>A	9	99003099	99003103	ACT	A	HSD17B3	c.761_762del	NM_000197.2	NP_000188.1:p.(Glu254ValfsTer10)	NC_000009.11:g.99003102_99003103del	(Likely) pathogenic	1 lab	638a4b08f3
15:89873460 POLG G>A	15	89873460	89873460	G	A	POLG	c.707C>T	NM_002693.2	NP_002684.1:p.(Thr236Ile)	NC_000015.9:g.89873460G>A	VUS	1 lab	638b1e0673
3:4735390 ITPR1 G>A	3	4735390	4735390	G	A	ITPR1	c.4201G>A	NM_001168272.1	NP_001161744.1:p.(Val1401Ile)	NC_000003.11:g.4735390G>A	VUS	1 lab	638b84ada1
19:42482783 ATP1A3 G>A	19	42482783	42482783	G	A	ATP1A3	c.1644C>T	NM_001256214.1	NP_001243143.1:p.(Leu548=)	NC_000019.9:g.42482783G>A	(Likely) benign	1 lab	638cb8ff0d
4:119259461 PRSS12 G>A	4	119259461	119259461	G	A	PRSS12	c.511C>T	NM_003619.3	NP_003610.2:p.(Arg171Ter)	NC_000004.11:g.119259461G>A	VUS	1 lab	638d7e159b
17:44073866 MAPT A>C	17	44073866	44073866	A	C	MAPT	c.1663A>C	NM_001123066.3	NP_001116538.2:p.(Thr555Pro)	NC_000017.10:g.44073866A>C	(Likely) benign	1 lab	638e40eb0f
1:247588112 NLRP3 G>A	1	247588112	247588112	G	A	NLRP3	c.1361G>A	NM_001243133.1	NP_001230062.1:p.(Gly454Glu)	NC_000001.10:g.247588112G>A	(Likely) benign	1 lab	638f051eb0
X:140953333 MAGEC3 G>A	X	140953333	140953333	G	A	MAGEC3	c.200G>A	NM_138702.1	NP_619647.1:p.(Arg67Lys)	NC_000023.10:g.140953333G>A	(Likely) benign	1 lab	638f6d0b4c
4:5624712 EVC2 C>T	4	5624712	5624712	C	T	EVC2	c.2053G>A	NM_147127.5	NP_667338.3:p.(Glu685Lys)	NC_000004.11:g.5624712C>T	VUS	1 lab	f410c867af
4:189012925 TRIML2 A>G	4	189012925	189012925	A	G	TRIML2	c.991T>C	NM_001303419.1	NP_001290348.1:p.(Trp331Arg)	NC_000004.11:g.189012925A>G	VUS	1 lab	63922b996b
X:153295953 MECP2 G>A	X	153295953	153295953	G	A	MECP2	c.1326C>T	NM_004992.3	NP_004983.1:p.(Thr442=)	NC_000023.10:g.153295953G>A	(Likely) benign	1 lab	6392447372
19:42482125 ATP1A3 C>T	19	42482125	42482125	C	T	ATP1A3	c.1945G>A	NM_001256214.1	NP_001243143.1:p.(Ala649Thr)	NC_000019.9:g.42482125C>T	(Likely) benign	1 lab	6393a669b3
22:26860069 HPS4 A>C	22	26860069	26860069	A	C	HPS4	c.1527T>G	NM_022081.5	NP_071364.4:p.(Ser509Arg)	NC_000022.10:g.26860069A>C	VUS	1 lab	63949bd817
14:105411492 AHNAK2 C>A	14	105411492	105411492	C	A	AHNAK2	c.10296G>T	NM_138420.3	NP_612429.2:p.(Val3432=)	NC_000014.8:g.105411492C>A	(Likely) benign	1 lab	6394b50523
1:216052233 USH2A G>T	1	216052233	216052233	G	T	USH2A	c.8431C>A	NM_206933.2	NP_996816.2:p.(Pro2811Thr)	NC_000001.10:g.216052233G>T	VUS	1 lab	6394e3ffab
9:2718757 KCNV2 C>G	9	2718757	2718757	C	G	KCNV2	c.1018C>G	NM_133497.3	NP_598004.1:p.(Leu340Val)	NC_000009.11:g.2718757C>G	VUS	1 lab	6395d40eb1
20:398248 RBCK1 G>A	20	398248	398248	G	A	RBCK1	c.120G>A	NM_006462.5	NP_006453.1:p.(Ala40=)	NC_000020.10:g.398248G>A	(Likely) benign	1 lab	6397563b44
20:30803095 POFUT1 C>G	20	30803095	30803095	C	G	POFUT1	c.270C>G	NM_015352.1	NP_056167.1:p.(Tyr90Ter)	NC_000020.10:g.30803095C>G	VUS	1 lab	639840b0e8
11:120984338 TECTA A>G	11	120984338	120984338	A	G	TECTA	c.701A>G	NM_005422.2	NP_005413.2:p.(Gln234Arg)	NC_000011.9:g.120984338A>G	VUS	1 lab	6398b97275
10:44052488 ZNF239 T>A	10	44052488	44052488	T	A	ZNF239	c.1040A>T	NM_005674.2	NP_005665.2:p.(Tyr347Phe)	NC_000010.10:g.44052488T>A	(Likely) benign	1 lab	639ac0c03f
6:15523347 DTNBP1 C>T	6	15523347	15523347	C	T	DTNBP1	c.672G>A	NM_001271667.1	NP_001258596.1:p.(Ser224=)	NC_000006.11:g.15523347C>T	(Likely) benign	1 lab	639b9b39f5
7:94040411 COL1A2 G>A	7	94040411	94040411	G	A	COL1A2	c.1295G>A	NM_000089.3	NP_000080.2:p.(Arg432Gln)	NC_000007.13:g.94040411G>A	VUS	1 lab	639be1d445
16:3639398 SLX4 G>T	16	3639398	3639398	G	T	SLX4	c.4241C>A	NM_032444.2	NP_115820.2:p.(Pro1414Gln)	NC_000016.9:g.3639398G>T	(Likely) benign	1 lab	639d069cc5
5:150911462 FAT2 G>A	5	150911462	150911462	G	A	FAT2	c.9497C>T	NM_001447.2	NP_001438.1:p.(Thr3166Met)	NC_000005.9:g.150911462G>A	VUS	1 lab	639d7bf713
22:30077457 NF2 TG>T	22	30077457	30077458	TG	T	NF2	c.1605del	NM_000268.4	NP_000259.1:p.(Gln536ArgfsTer14)	NC_000022.10:g.30077458del	(Likely) pathogenic	1 lab	f4152180a2
11:76903149 MYO7A C>T	11	76903149	76903149	C	T	MYO7A	c.3978C>T	NM_000260.3	NP_000251.3:p.(Cys1326=)	NC_000011.9:g.76903149C>T	(Likely) benign	1 lab	639e118838
2:26700098 OTOF C>T	2	26700098	26700098	C	T	OTOF	c.2465G>A	NM_194248.2	NP_919224.1:p.(Arg822Gln)	NC_000002.11:g.26700098C>T	VUS	1 lab	639e192382
20:42815019 JPH2 G>T	20	42815019	42815019	G	T	JPH2	c.327C>A	NM_020433.4	NP_065166.2:p.(Thr109=)	NC_000020.10:g.42815019G>T	(Likely) benign	1 lab	639e78268d
6:87968677 ZNF292 C>T	6	87968677	87968677	C	T	ZNF292	c.4910C>T	NM_001351444.1	NP_001338373.1:p.(Ser1637Phe)	NC_000006.11:g.87968677C>T	VUS	1 lab	639fb1b3f9
X:79277935 TBX22 A>T	X	79277935	79277935	A	T	TBX22	c.167A>T	NM_001109878.1	NP_001103348.1:p.(Glu56Val)	NC_000023.10:g.79277935A>T	VUS	1 lab	639ff8a990
17:18039940 MYO15A G>A	17	18039940	18039940	G	A	MYO15A	c.4719G>A	NM_016239.3	NP_057323.3:p.(Ala1573=)	NC_000017.10:g.18039940G>A	(Likely) benign	1 lab	63a08eab9b
X:105181527 NRK G>A	X	105181527	105181527	G	A	NRK	c.3752G>A	NM_198465.3	NP_940867.2:p.(Arg1251His)	NC_000023.10:g.105181527G>A	(Likely) benign	1 lab	63a0ced22c
17:7909911 GUCY2D G>A	17	7909911	7909911	G	A	GUCY2D	c.1257G>A	NM_000180.3	NP_000171.1:p.(Met419Ile)	NC_000017.10:g.7909911G>A	VUS	1 lab	63a0eeed97
18:43534782 EPG5 C>T	18	43534782	43534782	C	T	EPG5	c.586G>A	NM_020964.3	NP_066015.2:p.(Gly196Ser)	NC_000018.9:g.43534782C>T	(Likely) benign	1 lab	63a0fc0ec7
11:31822311 PAX6 C>G	11	31822311	31822311	C	G	PAX6	c.43G>C	NM_001310160.1	NP_001297089.1:p.(Gly15Arg)	NC_000011.9:g.31822311C>G	(Likely) benign	1 lab	63a13853f5
7:44294175 CAMK2B C>A	7	44294175	44294175	C	A	CAMK2B	c.307G>T	NM_001220.4	NP_001211.3:p.(Val103Leu)	NC_000007.13:g.44294175C>A	VUS	1 lab	63a1d483e2
9:35310490 UNC13B C>T	9	35310490	35310490	C	T	UNC13B	c.788C>T	NM_006377.3	NP_006368.3:p.(Ser263Phe)	NC_000009.11:g.35310490C>T	VUS	1 lab	63a28443a1
1:217947856 SPATA17 C>T	1	217947856	217947856	C	T	SPATA17	c.700C>T	NM_138796.4	NP_620151.1:p.(Pro234Ser)	NC_000001.10:g.217947856C>T	VUS	1 lab	63a29324c2
2:20867223 GDF7 G>A	2	20867223	20867223	G	A	GDF7	c.224G>A	NM_182828.4	NP_878248.2:p.(Arg75His)	NC_000002.11:g.20867223G>A	(Likely) benign	1 lab	63a2d3004f
5:56180480 MAP3K1 A>G	5	56180480	56180480	A	G	MAP3K1	c.3820-11A>G	NM_005921.1	NP_005912.1:p.?	NC_000005.9:g.56180480A>G	(Likely) benign	1 lab	63a57d81aa
4:74005551 ANKRD17 G>A	4	74005551	74005551	G	A	ANKRD17	c.2782C>T	NM_032217.4	NP_115593.3:p.(Arg928Trp)	NC_000004.11:g.74005551G>A	VUS	1 lab	63a6b5886f
20:33519782 GSS C>T	20	33519782	33519782	C	T	GSS	c.989G>A	NM_001322495.1	NP_001309424.1:p.(Arg330His)	NC_000020.10:g.33519782C>T	VUS	1 lab	63ac12e06d
3:121527768 IQCB1 T>C	3	121527768	121527768	T	C	IQCB1	c.482A>G	NM_001023570.3	NP_001018864.2:p.(Gln161Arg)	NC_000003.11:g.121527768T>C	(Likely) benign	1 lab	63ac300aa4
3:130159036 COL6A5 C>T	3	130159036	130159036	C	T	COL6A5	c.5854C>T	NM_001278298.1	NP_001265227.1:p.(Arg1952Ter)	NC_000003.11:g.130159036C>T	VUS	1 lab	63ad8b3ffe
1:100343205 AGL G>A	1	100343205	100343205	G	A	AGL	c.1432G>A	NM_000028.2	NP_000019.2:p.(Val478Ile)	NC_000001.10:g.100343205G>A	VUS	1 lab	63aeb678de
11:1254481 MUC5B C>A	11	1254481	1254481	C	A	MUC5B	c.2304C>A	NM_002458.2	NP_002449.2:p.(His768Gln)	NC_000011.9:g.1254481C>A	(Likely) benign	1 lab	63aed9fc1d
12:88505120 CEP290 ATGGTCTATC>A	12	88505120	88505132	ATGGTCTATC	A	CEP290	c.2218-1_2225del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88505124_88505132del	(Likely) pathogenic	1 lab	63af86d674
17:37883141 ERBB2 G>A	17	37883141	37883141	G	A	ERBB2	c.2999G>A	NM_001289936.1	NP_001276865.1:p.(Gly1000Glu)	NC_000017.10:g.37883141G>A	(Likely) benign	1 lab	63b258c690
17:29576097 NF1 T>TC	17	29576097	29576103	T	TC	NF1	c.4076dup	NM_000267.3	NP_000258.1:p.(Gln1360SerfsTer14)	NC_000017.10:g.29576103dup	(Likely) pathogenic	1 lab	63b293b80e
2:165947361 SCN3A C>T	2	165947361	165947361	C	T	SCN3A	c.5302G>A	NM_006922.3	NP_008853.3:p.(Ala1768Thr)	NC_000002.11:g.165947361C>T	VUS	1 lab	63b2f687e6
13:110862397 COL4A1 G>A	13	110862397	110862397	G	A	COL4A1	c.553-8C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110862397G>A	(Likely) benign	1 lab	63b9d811e7
2:109371464 RANBP2 G>A	2	109371464	109371464	G	A	RANBP2	c.2306G>A	NM_006267.4	NP_006258.3:p.(Arg769Gln)	NC_000002.11:g.109371464G>A	(Likely) benign	1 lab	63ba36e844
8:10468912 RP1L1 G>T	8	10468912	10468912	G	T	RP1L1	c.2696C>A	NM_178857.5	NP_849188.4:p.(Pro899Gln)	NC_000008.10:g.10468912G>T	(Likely) benign	1 lab	63d85617c1
13:31287979 ALOX5AP G>GTA	13	31287979	31287981	G	GTA	ALOX5AP	c.116+2_116+3insAT	NM_001204406.1	NP_001191335.1:p.?	NC_000013.10:g.31287980_31287981insAT	(Likely) benign	1 lab	63ba747918
10:12123550 DHTKD1 C>T	10	12123550	12123550	C	T	DHTKD1	c.234C>T	NM_018706.6	NP_061176.3:p.(Thr78=)	NC_000010.10:g.12123550C>T	(Likely) benign	1 lab	63bc9351b4
X:49020240 MAGIX G>A	X	49020240	49020240	G	A	MAGIX	c.169G>A	NM_024859.3	NP_079135.3:p.(Ala57Thr)	NC_000023.10:g.49020240G>A	(Likely) benign	1 lab	63bf1cd9ea
9:139390743 NOTCH1 G>A	9	139390743	139390743	G	A	NOTCH1	c.7448C>T	NM_017617.5	NP_060087.3:p.(Thr2483Met)	NC_000009.11:g.139390743G>A	VUS	1 lab	63c40112ae
9:123778539 C5 T>C	9	123778539	123778539	T	C	C5	c.1989A>G	NM_001735.2	NP_001726.2:p.(Gln663=)	NC_000009.11:g.123778539T>C	(Likely) benign	1 lab	63c5817ad9
X:47836387 ZNF182 T>C	X	47836387	47836387	T	C	ZNF182	c.1099A>G	NM_001178099.1	NP_001171570.1:p.(Thr367Ala)	NC_000023.10:g.47836387T>C	(Likely) benign	1 lab	63c654307d
12:58131888 AGAP2 C>T	12	58131888	58131888	C	T	AGAP2	c.142G>A	NM_001122772.2	NP_001116244.1:p.(Glu48Lys)	NC_000012.11:g.58131888C>T	(Likely) benign	1 lab	63c7bbf375
12:64173722 RXYLT1 G>A	12	64173722	64173722	G	A	RXYLT1	c.-19G>A	NM_014254.2	NP_055069.1:p.?	NC_000012.11:g.64173722G>A	VUS	1 lab	63c9103cbc
2:179600595 TTN G>T	2	179600595	179600595	G	T	TTN	c.14578C>A	NM_001267550.1	NP_001254479.1:p.(Gln4860Lys)	NC_000002.11:g.179600595G>T	VUS	1 lab	63ca86f356
17:79519026 FAAP100 C>A	17	79519026	79519026	C	A	FAAP100	c.218G>T	NM_025161.6	NP_079437.5:p.(Arg73Leu)	NC_000017.10:g.79519026C>A	(Likely) benign	1 lab	63cb256ee2
9:139836102 FBXW5 C>G	9	139836102	139836102	C	G	FBXW5	c.1131G>C	NM_018998.4	NP_061871.1:p.(Thr377=)	NC_000009.11:g.139836102C>G	(Likely) benign	1 lab	63cc9a7b81
18:43480986 EPG5 G>A	18	43480986	43480986	G	A	EPG5	c.4621C>T	NM_020964.3	NP_066015.2:p.(Leu1541=)	NC_000018.9:g.43480986G>A	(Likely) benign	1 lab	63cd456616
4:103592559 MANBA T>C	4	103592559	103592559	T	C	MANBA	c.1113-4A>G	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103592559T>C	(Likely) benign	1 lab	63d02da207
13:110831305 COL4A1 C>A	13	110831305	110831305	C	A	COL4A1	c.2423G>T	NM_001845.5	NP_001836.3:p.(Gly808Val)	NC_000013.10:g.110831305C>A	(Likely) pathogenic	1 lab	63d0fefead
X:63410789 AMER1 T>C	X	63410789	63410789	T	C	AMER1	c.2378A>G	NM_152424.4	NP_689637.3:p.(Asp793Gly)	NC_000023.10:g.63410789T>C	VUS	1 lab	f4224089c3
11:33360996 HIPK3 C>A	11	33360996	33360996	C	A	HIPK3	c.1529C>A	NM_005734.5	NP_005725.3:p.(Ala510Glu)	NC_000011.9:g.33360996C>A	VUS	1 lab	63d1e09fd0
1:179533914 NPHS2 C>T	1	179533914	179533914	C	T	NPHS2	c.289G>A	NM_014625.3	NP_055440.1:p.(Gly97Ser)	NC_000001.10:g.179533914C>T	VUS	1 lab	63d26feb03
6:76618265 MYO6 G>A	6	76618265	76618265	G	A	MYO6	c.3333G>A	NM_004999.3	NP_004990.3:p.(Val1111=)	NC_000006.11:g.76618265G>A	(Likely) benign	1 lab	63d30eb38e
12:122079111 ORAI1 T>A	12	122079111	122079111	T	A	ORAI1	c.468T>A	NM_032790.3	NP_116179.2:p.(Asn156Lys)	NC_000012.11:g.122079111T>A	VUS	1 lab	63d4380d6b
9:71842735 TJP2 A>G	9	71842735	71842735	A	G	TJP2	c.1265A>G	NM_004817.4	NP_004808.2:p.(Gln422Arg)	NC_000009.11:g.71842735A>G	(Likely) benign	1 lab	63d44cc871
16:2129033 TSC2 C>CAGGA	16	2129033	2129037	C	CAGGA	TSC2	c.2968_2971dup	NM_000548.3	NP_000539.2:p.(Ile991LysfsTer16)	NC_000016.9:g.2129034_2129037dup	(Likely) pathogenic	1 lab	63d7602833
18:29178561 TTR C>T	18	29178561	29178561	C	T	TTR	c.367C>T	NM_000371.3	NP_000362.1:p.(Arg123Cys)	NC_000018.9:g.29178561C>T	VUS	1 lab	63d938aec8
20:42271269 IFT52 A>G	20	42271269	42271269	A	G	IFT52	c.738+5A>G	NM_001323578.1	NP_001310507.1:p.?	NC_000020.10:g.42271269A>G	VUS	1 lab	63d9c7752f
2:203384894 BMPR2 GCTTAT>G	2	203384894	203384902	GCTTAT	G	BMPR2	c.941_945del	NM_001204.7	NP_001195.2:p.(Tyr314SerfsTer11)	NC_000002.11:g.203384898_203384902del	(Likely) pathogenic	1 lab	f422f58289
17:78091523 GAA G>C	17	78091523	78091523	G	C	GAA	c.2456G>C	NM_000152.3	NP_000143.2:p.(Arg819Pro)	NC_000017.10:g.78091523G>C	(Likely) pathogenic	1 lab	63dafb5d70
17:32954040 TMEM132E C>T	17	32954040	32954040	C	T	TMEM132E	c.962C>T	NM_001304438.1	NP_001291367.1:p.(Ser321Leu)	NC_000017.10:g.32954040C>T	VUS	1 lab	63db0f2cb4
19:17014536 MISSING G>A	19	17014536	17014536	G	A	MISSING				NC_000019.9:g.17014536G>A	(Likely) benign	1 lab	63db821a11
17:29677259 NF1 AC>A	17	29677259	29677260	AC	A	NF1	c.7381del	NM_001042492.3	NP_001035957.1:p.(Leu2461PhefsTer28)	NC_000017.10:g.29677260del	(Likely) pathogenic	1 lab	63db8decc1
3:38651285 SCN5A C>T	3	38651285	38651285	C	T	SCN5A	c.874G>A	NM_001099404.1	NP_001092874.1:p.(Gly292Ser)	NC_000003.11:g.38651285C>T	VUS	1 lab	63dd454f4e
10:90988006 LIPA G>A	10	90988006	90988006	G	A	LIPA	c.379C>T	NM_000235.3	NP_000226.2:p.(Arg127Trp)	NC_000010.10:g.90988006G>A	VUS	1 lab	63ddc62d7e
19:41084446 SHKBP1 C>A	19	41084446	41084446	C	A	SHKBP1	c.398C>A	NM_138392.4	NP_612401.2:p.(Pro133Gln)	NC_000019.9:g.41084446C>A	VUS	1 lab	63df86495c
12:80888730 PTPRQ AT>A	12	80888730	80888731	AT	A	PTPRQ	c.1560del	NM_001145026.2	NP_001138498.1:p.(Tyr520Ter)	NC_000012.11:g.80888731del	(Likely) pathogenic	1 lab	63dfd6e6a5
17:41244251 BRCA1 AG>A	17	41244251	41244253	AG	A	BRCA1	c.3296del	NM_007294.4	NP_009225.1:p.(Pro1099LeufsTer10)	NC_000017.10:g.41244253del	(Likely) pathogenic	1 lab	f424454ec0
8:25159868 DOCK5 C>A	8	25159868	25159868	C	A	DOCK5	c.874C>A	NM_024940.7	NP_079216.4:p.(Pro292Thr)	NC_000008.10:g.25159868C>A	(Likely) benign	1 lab	63e382debb
12:52886711 KRT6A C>T	12	52886711	52886711	C	T	KRT6A	c.262G>A	NM_005554.4	NP_005545.1:p.(Gly88Arg)	NC_000012.11:g.52886711C>T	VUS	1 lab	63e38d78ad
13:73573037 PIBF1 A>G	13	73573037	73573037	A	G	PIBF1	c.2214A>G	NM_001349655.1	NP_001336584.1:p.(Thr738=)	NC_000013.10:g.73573037A>G	(Likely) benign	1 lab	63e3a84f1e
6:90642287 BACH2 T>G	6	90642287	90642287	T	G	BACH2	c.2366A>C	NM_021813.4	NP_068585.1:p.(Asn789Thr)	NC_000006.11:g.90642287T>G	VUS	1 lab	63e47ffe7a
8:144994060 PLEC G>A	8	144994060	144994060	G	A	PLEC	c.10340C>T	NM_201380.3	NP_958782.1:p.(Ala3447Val)	NC_000008.10:g.144994060G>A	(Likely) benign	1 lab	63e5604393
15:40659596 DISP2 A>G	15	40659596	40659596	A	G	DISP2	c.1283A>G	NM_033510.3	NP_277045.1:p.(Tyr428Cys)	NC_000015.9:g.40659596A>G	VUS	1 lab	63e6dcb988
11:76751338 B3GNT6 G>T	11	76751338	76751338	G	T	B3GNT6	c.743G>T	NM_138706.4	NP_619651.3:p.(Gly248Val)	NC_000011.9:g.76751338G>T	VUS	1 lab	63e7c0c85e
10:123842510 TACC2 A>G	10	123842510	123842510	A	G	TACC2	c.495A>G	NM_206862.3	NP_996744.3:p.(Gln165=)	NC_000010.10:g.123842510A>G	(Likely) benign	1 lab	63e7e48ba6
19:42383620 CD79A C>T	19	42383620	42383620	C	T	CD79A	c.395C>T	NM_001783.3	NP_001774.1:p.(Pro132Leu)	NC_000019.9:g.42383620C>T	VUS	1 lab	63ea18b071
X:73959312 NEXMIF T>C	X	73959312	73959312	T	C	NEXMIF	c.4479A>G	NM_001008537.2	NP_001008537.1:p.(Leu1493=)	NC_000023.10:g.73959312T>C	(Likely) benign	1 lab	63ebe1fbe3
11:1261508 MUC5B C>A	11	1261508	1261508	C	A	MUC5B	c.3873C>A	NM_002458.2	NP_002449.2:p.(Ser1291Arg)	NC_000011.9:g.1261508C>A	(Likely) benign	1 lab	63ed8dff15
1:93730416 CCDC18 G>A	1	93730416	93730416	G	A	CCDC18	c.3843G>A	NM_206886.4	NP_996769.3:p.(Arg1281=)	NC_000001.10:g.93730416G>A	(Likely) benign	1 lab	63edb06763
16:3658545 SLX4 C>A	16	3658545	3658545	C	A	SLX4	c.421G>T	NM_032444.2	NP_115820.2:p.(Gly141Trp)	NC_000016.9:g.3658545C>A	VUS	1 lab	63eedfdef0
6:38906648 DNAH8 ACT>A	6	38906648	38906652	ACT	A	DNAH8	c.11894_11895del	NM_001206927.2	NP_001193856.1:p.(Ser3965CysfsTer21)	NC_000006.11:g.38906651_38906652del	VUS	1 lab	63eff325f0
1:116280820 CASQ2 C>T	1	116280820	116280820	C	T	CASQ2	c.532+25G>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116280820C>T	(Likely) benign	1 lab	63f09250f9
17:76046780 TNRC6C T>G	17	76046780	76046780	T	G	TNRC6C	c.1637T>G	NM_001142640.1	NP_001136112.1:p.(Val546Gly)	NC_000017.10:g.76046780T>G	VUS	1 lab	63f18f6f30
11:17655355 OTOG G>A	11	17655355	17655355	G	A	OTOG	c.7237G>A	NM_001277269.1	NP_001264198.1:p.(Val2413Ile)	NC_000011.9:g.17655355G>A	(Likely) benign	1 lab	63f30f920b
17:76420098 DNAH17 C>A	17	76420098	76420098	C	A	DNAH17	c.13278G>T	NM_173628.3	NP_775899.3:p.(Val4426=)	NC_000017.10:g.76420098C>A	(Likely) benign	1 lab	63f33a4f69
14:94849325 SERPINA1 C>T	14	94849325	94849325	C	T	SERPINA1	c.250G>A	NM_001127701.1	NP_001121173.1:p.(Ala84Thr)	NC_000014.8:g.94849325C>T	(Likely) pathogenic	1 lab	63f38db2de
4:860290 GAK C>A	4	860290	860290	C	A	GAK	c.2905G>T	NM_005255.4	NP_005246.2:p.(Gly969Cys)	NC_000004.11:g.860290C>A	VUS	1 lab	63f4029c2a
1:214811219 CENPF A>G	1	214811219	214811219	A	G	CENPF	c.1457A>G	NM_016343.3	NP_057427.3:p.(Lys486Arg)	NC_000001.10:g.214811219A>G	VUS	1 lab	63f4f6e10e
19:54314056 NLRP12 G>A	19	54314056	54314056	G	A	NLRP12	c.857C>T	NM_001277126.1	NP_001264055.1:p.(Pro286Leu)	NC_000019.9:g.54314056G>A	VUS	1 lab	63f6b5e46e
X:75396749 PBDC1 A>G	X	75396749	75396749	A	G	PBDC1	c.331A>G	NM_016500.4	NP_057584.2:p.(Ile111Val)	NC_000023.10:g.75396749A>G	(Likely) benign	1 lab	63f7269e58
16:88496999 ZNF469 G>A	16	88496999	88496999	G	A	ZNF469				NC_000016.9:g.88496999G>A	(Likely) benign	1 lab	73d8eaedd7
14:65253349 SPTB C>T	14	65253349	65253349	C	T	SPTB	c.3334G>A	NM_001024858.3	NP_001020029.1:p.(Gly1112Arg)	NC_000014.8:g.65253349C>T	(Likely) benign	1 lab	63f78b0c49
1:94481399 ABCA4 G>A	1	94481399	94481399	G	A	ABCA4	c.5208C>T	NM_000350.2	NP_000341.2:p.(Ser1736=)	NC_000001.10:g.94481399G>A	(Likely) benign	1 lab	63f7cd8d0d
X:148584996 IDS G>A	X	148584996	148584996	G	A	IDS	c.264C>T	NM_000202.7	NP_000193.1:p.(Arg88=)	NC_000023.10:g.148584996G>A	(Likely) benign	1 lab	63f9a89777
12:104136332 STAB2 C>A	12	104136332	104136332	C	A	STAB2	c.6031C>A	NM_017564.10	NP_060034.9:p.(Pro2011Thr)	NC_000012.11:g.104136332C>A	VUS	1 lab	63fb785006
20:62660772 PRPF6 A>G	20	62660772	62660772	A	G	PRPF6	c.2474A>G	NM_012469.3	NP_036601.2:p.(Gln825Arg)	NC_000020.10:g.62660772A>G	VUS	1 lab	63fe675c7b
9:79936597 VPS13A C>A	9	79936597	79936597	C	A	VPS13A	c.5765C>A	NM_033305.2	NP_150648.2:p.(Thr1922Asn)	NC_000009.11:g.79936597C>A	(Likely) benign	1 lab	63fe93ab5d
17:78084756 GAA C>A	17	78084756	78084756	C	A	GAA	c.1568C>A	NM_000152.3	NP_000143.2:p.(Ser523Tyr)	NC_000017.10:g.78084756C>A	(Likely) pathogenic	1 lab	640254fe77
15:101718784 CHSY1 G>A	15	101718784	101718784	G	A	CHSY1	c.1218C>T	NM_014918.4	NP_055733.2:p.(Asp406=)	NC_000015.9:g.101718784G>A	(Likely) benign	1 lab	640c547398
11:36596863 RAG1 C>T	11	36596863	36596863	C	T	RAG1	c.2009C>T	NM_000448.2	NP_000439.1:p.(Thr670Met)	NC_000011.9:g.36596863C>T	VUS	1 lab	6405a114f5
1:114397554 PTPN22 T>C	1	114397554	114397554	T	C	PTPN22	c.658A>G	NM_015967.6	NP_057051.3:p.(Ser220Gly)	NC_000001.10:g.114397554T>C	(Likely) benign	1 lab	6405ebfcb7
Y:14922696 USP9Y C>G	Y	14922696	14922696	C	G	USP9Y	c.4182C>G	NM_004654.3	NP_004645.2:p.(Asn1394Lys)	NC_000024.9:g.14922696C>G	(Likely) benign	1 lab	64060348e5
2:109380375 RANBP2 G>A	2	109380375	109380375	G	A	RANBP2	c.3380G>A	NM_006267.4	NP_006258.3:p.(Arg1127Gln)	NC_000002.11:g.109380375G>A	VUS	1 lab	64062605cf
17:29676195 NF1 T>C	17	29676195	29676195	T	C	NF1	c.7184T>C	NM_000267.3	NP_000258.1:p.(Leu2395Pro)	NC_000017.10:g.29676195T>C	VUS	1 lab	64077c0816
18:43702458 HAUS1 C>T	18	43702458	43702458	C	T	HAUS1	c.502C>T	NM_138443.4	NP_612452.1:p.(Leu168=)	NC_000018.9:g.43702458C>T	(Likely) benign	1 lab	640914a75a
5:176638590 NSD1 CTT>C	5	176638590	176638592	CTT	C	NSD1	c.3191_3192del	NM_022455.5	NP_071900.2:p.(Leu1064ArgfsTer22)	NC_000005.9:g.176638591_176638592del	(Likely) pathogenic	1 lab	640a469f8c
10:75532101 POFUT4 G>A	10	75532101	75532101	G	A	POFUT4	c.10G>A	NM_001284194.1	NP_001271123.1:p.(Gly4Ser)	NC_000010.10:g.75532101G>A	(Likely) benign	1 lab	640b657978
14:101347588 RTL1 A>G	14	101347588	101347588	A	G	RTL1	c.3538T>C	NM_001134888.2	NP_001128360.1:p.(Ser1180Pro)	NC_000014.8:g.101347588A>G	VUS	1 lab	640ee0b581
1:43908298 SZT2 T>G	1	43908298	43908298	T	G	SZT2	c.8151+9T>G	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43908298T>G	(Likely) benign	1 lab	640fb38c6d
15:43692341 TUBGCP4 G>A	15	43692341	43692341	G	A	TUBGCP4	c.1521G>A	NM_001286414.2	NP_001273343.1:p.(Ser507=)	NC_000015.9:g.43692341G>A	(Likely) benign	1 lab	640ff437fa
2:31571190 XDH G>A	2	31571190	31571190	G	A	XDH	c.3091C>T	NM_000379.3	NP_000370.2:p.(Leu1031=)	NC_000002.11:g.31571190G>A	(Likely) benign	1 lab	64110f01db
14:91875119 CCDC88C A>G	14	91875119	91875119	A	G	CCDC88C	c.162-8T>C	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91875119A>G	(Likely) benign	1 lab	64137a3894
1:237777876 RYR2 C>T	1	237777876	237777876	C	T	RYR2	c.5448C>T	NM_001035.2	NP_001026.2:p.(Phe1816=)	NC_000001.10:g.237777876C>T	(Likely) benign	1 lab	6413931247
18:77474584 CTDP1 A>G	18	77474584	77474584	A	G	CTDP1	c.1124A>G	NM_004715.4	NP_004706.3:p.(Asn375Ser)	NC_000018.9:g.77474584A>G	VUS	1 lab	6416db933d
11:26681812 ANO3 C>T	11	26681812	26681812	C	T	ANO3	c.2950C>T	NM_001313726.1	NP_001300655.1:p.(Leu984Phe)	NC_000011.9:g.26681812C>T	VUS	1 lab	64177727df
17:39637094 KRT35 C>A	17	39637094	39637094	C	A	KRT35	c.256G>T	NM_002280.4	NP_002271.3:p.(Gly86Cys)	NC_000017.10:g.39637094C>A	VUS	1 lab	6417e26e1c
1:145457563 POLR3GL T>C	1	145457563	145457563	T	C	POLR3GL	c.367A>G	NM_032305.3	NP_115681.1:p.(Lys123Glu)	NC_000001.10:g.145457563T>C	VUS	1 lab	6419a4d492
13:32953996 BRCA2 A>G	13	32953996	32953996	A	G	BRCA2	c.9063A>G	NM_000059.3	NP_000050.2:p.(Glu3021=)	NC_000013.10:g.32953996A>G	(Likely) benign	1 lab	641ae1e3f0
X:130412721 IGSF1 T>C	X	130412721	130412721	T	C	IGSF1	c.1770A>G	NM_001170961.1	NP_001164432.1:p.(Ile590Met)	NC_000023.10:g.130412721T>C	VUS	1 lab	641b1a1613
14:60433878 LRRC9 A>C	14	60433878	60433878	A	C	LRRC9	c.1453A>C	NM_001355272.1	NP_001342201.1:p.(Lys485Gln)	NC_000014.8:g.60433878A>C	VUS	1 lab	641c398ccb
2:179414885 TTN C>A	2	179414885	179414885	C	A	TTN	c.91680G>T	NM_001267550.2	NP_001254479.2:p.(Trp30560Cys)	NC_000002.11:g.179414885C>A	VUS	1 lab	f42a012d92
16:74698649 RFWD3 A>AAAG	16	74698649	74698652	A	AAAG	RFWD3	c.-3+2034_-3+2035insCTT	NM_018124.4	NP_060594.3:p.?	NC_000016.9:g.74698651_74698652insGAA	(Likely) benign	1 lab	f42b148f8a
10:79773483 POLR3A G>A	10	79773483	79773483	G	A	POLR3A	c.1497C>T	NM_007055.4	NP_008986.2:p.(Asp499=)	NC_000010.10:g.79773483G>A	(Likely) benign	1 lab	f42c043c01
15:79237316 CTSH G>T	15	79237316	79237316	G	T	CTSH	c.8C>A	NM_004390.4	NP_004381.2:p.(Ala3Asp)	NC_000015.9:g.79237316G>T	VUS	1 lab	6420bd4590
21:47744207 PCNT G>A	21	47744207	47744207	G	A	PCNT	c.54+11G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47744207G>A	(Likely) benign	1 lab	6422addcf1
10:116046110 VWA2 G>A	10	116046110	116046110	G	A	VWA2	c.1410G>A	NM_001272046.2	NP_001258975.1:p.(Ala470=)	NC_000010.10:g.116046110G>A	(Likely) benign	1 lab	64245d9a7e
8:61655273 CHD7 C>T	8	61655273	61655273	C	T	CHD7				NC_000008.10:g.61655273C>T	VUS	1 lab	6424786418
12:49091972 CCNT1 G>GA	12	49091972	49091985	G	GA	CCNT1	c.497-7dup	NM_001240.4	NP_001231.2:p.?	NC_000012.11:g.49091985dup	(Likely) benign	1 lab	642622dcd5
8:86386576 CA2 C>G	8	86386576	86386576	C	G	CA2	c.375C>G	NM_000067.2	NP_000058.1:p.(Thr125=)	NC_000008.10:g.86386576C>G	(Likely) benign	1 lab	64269696a4
X:154741388 TMLHE G>T	X	154741388	154741388	G	T	TMLHE	c.704C>A	NM_018196.3	NP_060666.1:p.(Thr235Asn)	NC_000023.10:g.154741388G>T	(Likely) benign	1 lab	6429f7e0a2
X:89177321 TGIF2LX A>C	X	89177321	89177321	A	C	TGIF2LX	c.237A>C	NM_138960.3	NP_620410.3:p.(Ser79=)	NC_000023.10:g.89177321A>C	(Likely) benign	1 lab	642abfa037
10:88459019 LDB3 TC>T	10	88459019	88459020	TC	T	LDB3	c.1100+6692del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88459020del	(Likely) benign	1 lab	f430b5e8c2
19:46274288 DMPK G>A	19	46274288	46274288	G	A	DMPK	c.1708C>T	NM_001081563.2	NP_001075032.1:p.(Gln570Ter)	NC_000019.9:g.46274288G>A	VUS	1 lab	642def5706
8:62475364 ASPH TC>T	8	62475364	62475365	TC	T	ASPH	c.1375del	NM_004318.4	NP_004309.2:p.(Asp459ThrfsTer8)	NC_000008.10:g.62475365del	(Likely) pathogenic	1 lab	642f1b1282
12:42538412 GXYLT1 C>T	12	42538412	42538412	C	T	GXYLT1	c.37G>A	NM_173601.2	NP_775872.1:p.(Ala13Thr)	NC_000012.11:g.42538412C>T	(Likely) benign	1 lab	642f3e9c19
17:15903530 TTC19 G>C	17	15903530	15903530	G	C	TTC19	c.283G>C	NM_017775.3	NP_060245.3:p.(Glu95Gln)	NC_000017.10:g.15903530G>C	(Likely) benign	1 lab	6432c1d75b
5:149450068 CSF1R G>A	5	149450068	149450068	G	A	CSF1R	c.1149C>T	NM_001349736.1	NP_001336665.1:p.(Ala383=)	NC_000005.9:g.149450068G>A	(Likely) benign	1 lab	6432ffcd8d
11:95551045 CEP57 C>G	11	95551045	95551045	C	G	CEP57				NC_000011.9:g.95551045C>G	VUS	1 lab	6433058ba8
19:36595755 WDR62 T>A	19	36595755	36595755	T	A	WDR62	c.4397T>A	NM_001083961.1	NP_001077430.1:p.(Leu1466Gln)	NC_000019.9:g.36595755T>A	VUS	1 lab	6433bd075b
X:153690500 PLXNA3 G>A	X	153690500	153690500	G	A	PLXNA3	c.1167G>A	NM_017514.4	NP_059984.3:p.(Leu389=)	NC_000023.10:g.153690500G>A	(Likely) benign	1 lab	6433d4bcf7
4:184615102 TRAPPC11 G>A	4	184615102	184615102	G	A	TRAPPC11	c.2419G>A	NM_021942.5	NP_068761.4:p.(Val807Met)	NC_000004.11:g.184615102G>A	VUS	1 lab	643484dd8f
X:149680360 MAMLD1 C>T	X	149680360	149680360	C	T	MAMLD1	c.2014C>T	NM_001177465.3	NP_001170936.1:p.(Leu672Phe)	NC_000023.10:g.149680360C>T	VUS	1 lab	64349de3be
16:1636152 IFT140 T>C	16	1636152	1636152	T	C	IFT140	c.1134A>G	NM_014714.3	NP_055529.2:p.(Gln378=)	NC_000016.9:g.1636152T>C	(Likely) benign	1 lab	6435e1ca04
10:112404378 RBM20 G>C	10	112404378	112404378	G	C	RBM20	c.166G>C	NM_001134363.1	NP_001127835.1:p.(Ala56Pro)	NC_000010.10:g.112404378G>C	(Likely) benign	1 lab	6436504774
2:62066655 FAM161A C>T	2	62066655	62066655	C	T	FAM161A	c.1484G>A	NM_001201543.1	NP_001188472.1:p.(Arg495His)	NC_000002.11:g.62066655C>T	(Likely) benign	1 lab	6438f56cab
11:67763235 UNC93B1 G>A	11	67763235	67763235	G	A	UNC93B1	c.1210C>T	NM_030930.2	NP_112192.2:p.(Pro404Ser)	NC_000011.9:g.67763235G>A	VUS	1 lab	643978df31
1:65830340 DNAJC6 G>A	1	65830340	65830340	G	A	DNAJC6	c.45G>A	NM_014787.3	NP_055602.1:p.(Glu15=)	NC_000001.10:g.65830340G>A	(Likely) benign	1 lab	6439f950ba
2:179417826 TTN GGT>G	2	179417826	179417832	GGT	G	TTN	c.89799_89800del	NM_001267550.2	NP_001254479.2:p.(Pro29934SerfsTer9)	NC_000002.11:g.179417831_179417832del	(Likely) pathogenic	1 lab	f4326cb3bc
12:51375552 SLC11A2 T>C	12	51375552	51375552	T	C	SLC11A2	c.1664A>G	NM_001174126.1	NP_001167597.1:p.(Tyr555Cys)	NC_000012.11:g.51375552T>C	VUS	1 lab	643c954942
8:11994853 USP17L2 A>C	8	11994853	11994853	A	C	USP17L2	c.1417T>G	NM_201402.2	NP_958804.2:p.(Cys473Gly)	NC_000008.10:g.11994853A>C	(Likely) benign	1 lab	643d1e68fc
8:57876550 BPNT2 T>C	8	57876550	57876550	T	C	BPNT2	c.882A>G	NM_017813.4	NP_060283.3:p.(Thr294=)	NC_000008.10:g.57876550T>C	(Likely) benign	1 lab	643d277c4a
17:29490358 NF1 A>G	17	29490358	29490358	A	G	NF1	c.443A>G	NM_000267.3	NP_000258.1:p.(Asn148Ser)	NC_000017.10:g.29490358A>G	(Likely) benign	1 lab	643d353d7b
16:86544428 FOXF1 T>A	16	86544428	86544428	T	A	FOXF1	c.253T>A	NM_001451.2	NP_001442.2:p.(Phe85Ile)	NC_000016.9:g.86544428T>A	(Likely) pathogenic	1 lab	643e0732a6
1:218520328 TGFB2 C>CGAAGAGT	1	218520328	218520335	C	CGAAGAGT	TGFB2	c.286_292dup	NM_001135599.3	NP_001129071.1:p.(Tyr98Ter)	NC_000001.10:g.218520329_218520335dup	(Likely) pathogenic	1 lab	643e453108
12:121437114 HNF1A G>A	12	121437114	121437114	G	A	HNF1A	c.1545G>A	NM_000545.8	NP_000536.6:p.(Thr515=)	NC_000012.11:g.121437114G>A	(Likely) benign	1 lab	f43292d016
21:33684072 MRAP C>T	21	33684072	33684072	C	T	MRAP	c.284C>T	NM_178817.3	NP_848932.1:p.(Pro95Leu)	NC_000021.8:g.33684072C>T	(Likely) benign	1 lab	643eab1c4e
11:47712214 AGBL2 G>A	11	47712214	47712214	G	A	AGBL2	c.1045C>T	NM_024783.4	NP_079059.2:p.(Arg349Cys)	NC_000011.9:g.47712214G>A	VUS	1 lab	643f818082
8:32613983 NRG1 T>C	8	32613983	32613983	T	C	NRG1	c.881T>C	NM_013956.4	NP_039250.2:p.(Met294Thr)	NC_000008.10:g.32613983T>C	(Likely) benign	1 lab	6440270f7c
7:4822959 AP5Z1 G>A	7	4822959	4822959	G	A	AP5Z1	c.379G>A	NM_014855.3	NP_055670.1:p.(Glu127Lys)	NC_000007.13:g.4822959G>A	(Likely) benign	1 lab	6444e7dca7
22:26849360 HPS4 T>A	22	26849360	26849360	T	A	HPS4	c.1966A>T	NM_022081.5	NP_071364.4:p.(Thr656Ser)	NC_000022.10:g.26849360T>A	(Likely) benign	1 lab	64451c3d06
22:32241052 DEPDC5 A>G	22	32241052	32241052	A	G	DEPDC5	c.2850A>G	NM_001242896.2	NP_001229825.1:p.(Pro950=)	NC_000022.10:g.32241052A>G	(Likely) benign	1 lab	64459867cc
3:129290691 PLXND1 G>C	3	129290691	129290691	G	C	PLXND1	c.3078-4C>G	NM_015103.2	NP_055918.2:p.?	NC_000003.11:g.129290691G>C	(Likely) benign	1 lab	6446527b70
19:11348936 DOCK6 C>T	19	11348936	11348936	C	T	DOCK6	c.1688G>A	NM_020812.3	NP_065863.2:p.(Arg563His)	NC_000019.9:g.11348936C>T	VUS	1 lab	6447891032
10:14977506 DCLRE1C C>T	10	14977506	14977506	C	T	DCLRE1C	c.60G>A	NM_001289079.1	NP_001276008.1:p.(Ala20=)	NC_000010.10:g.14977506C>T	(Likely) benign	1 lab	6447b44f6c
3:123988027 KALRN C>T	3	123988027	123988027	C	T	KALRN	c.888C>T	NM_001024660.4	NP_001019831.2:p.(His296=)	NC_000003.11:g.123988027C>T	(Likely) benign	1 lab	644973edc0
19:11144184 SMARCA4 G>A	19	11144184	11144184	G	A	SMARCA4	c.3765G>A	NM_001128844.1	NP_001122316.1:p.(Glu1255=)	NC_000019.9:g.11144184G>A	(Likely) benign	1 lab	6449bc5a98
6:33132242 COL11A2 G>A	6	33132242	33132242	G	A	COL11A2	c.4872C>T	NM_080680.2	NP_542411.2:p.(Tyr1624=)	NC_000006.11:g.33132242G>A	(Likely) benign	1 lab	644a1e8f30
8:126056913 WASHC5 G>A	8	126056913	126056913	G	A	WASHC5	c.2532C>T	NM_014846.3	NP_055661.3:p.(Asn844=)	NC_000008.10:g.126056913G>A	(Likely) benign	1 lab	644b044e7f
10:94368836 KIF11 T>C	10	94368836	94368836	T	C	KIF11	c.447T>C	NM_004523.3	NP_004514.2:p.(Asp149=)	NC_000010.10:g.94368836T>C	(Likely) benign	1 lab	644b123362
14:99641613 BCL11B G>A	14	99641613	99641613	G	A	BCL11B	c.1560C>T	NM_138576.3	NP_612808.1:p.(His520=)	NC_000014.8:g.99641613G>A	(Likely) benign	1 lab	644cee1e88
10:115366040 NRAP C>T	10	115366040	115366040	C	T	NRAP	c.3704G>A	NM_001261463.1	NP_001248392.1:p.(Arg1235His)	NC_000010.10:g.115366040C>T	VUS	1 lab	6450388b3a
6:135751079 AHI1 A>C	6	135751079	135751079	A	C	AHI1	c.2433T>G	NM_001350503.1	NP_001337432.1:p.(Asn811Lys)	NC_000006.11:g.135751079A>C	VUS	1 lab	6453966281
22:50662638 TUBGCP6 G>A	22	50662638	50662638	G	A	TUBGCP6	c.2202C>T	NM_020461.3	NP_065194.2:p.(Tyr734=)	NC_000022.10:g.50662638G>A	(Likely) benign	1 lab	6455e179d5
3:46008939 FYCO1 G>A	3	46008939	46008939	G	A	FYCO1	c.1887C>T	NM_024513.3	NP_078789.2:p.(Val629=)	NC_000003.11:g.46008939G>A	(Likely) benign	1 lab	6456c03439
11:4661351 OR51D1 C>T	11	4661351	4661351	C	T	OR51D1	c.331C>T	NM_001004751.2	NP_001004751.1:p.(Leu111=)	NC_000011.9:g.4661351C>T	(Likely) benign	1 lab	6456cee84a
5:112176356 APC A>G	5	112176356	112176356	A	G	APC				NC_000005.9:g.112176356A>G	VUS	1 lab	64588d706e
X:119421027 TMEM255A T>G	X	119421027	119421027	T	G	TMEM255A	c.405A>C	NM_017938.3	NP_060408.3:p.(Ser135=)	NC_000023.10:g.119421027T>G	(Likely) benign	1 lab	6459fc048c
15:73660430 HCN4 G>A	15	73660430	73660430	G	A	HCN4	c.182C>T	NM_005477.2	NP_005468.1:p.(Ala61Val)	NC_000015.9:g.73660430G>A	(Likely) benign	1 lab	645a3f0219
22:38150891 TRIOBP C>A	22	38150891	38150891	C	A	TRIOBP	c.5387C>A	NM_001039141.2	NP_001034230.1:p.(Ser1796Tyr)	NC_000022.10:g.38150891C>A	(Likely) benign	1 lab	645a80713b
20:62324574 RTEL1 G>C	20	62324574	62324574	G	C	RTEL1	c.2930G>C	NM_001283009.1	NP_001269938.1:p.(Gly977Ala)	NC_000020.10:g.62324574G>C	(Likely) benign	1 lab	645ac3c21a
12:56662850 COQ10A A>G	12	56662850	56662850	A	G	COQ10A	c.289A>G	NM_144576.3	NP_653177.3:p.(Met97Val)	NC_000012.11:g.56662850A>G	VUS	1 lab	645b71e00c
14:105408576 AHNAK2 A>G	14	105408576	105408576	A	G	AHNAK2	c.13212T>C	NM_138420.3	NP_612429.2:p.(Asn4404=)	NC_000014.8:g.105408576A>G	(Likely) benign	1 lab	645b814bee
22:50657892 TUBGCP6 G>A	22	50657892	50657892	G	A	TUBGCP6	c.4316-7C>T	NM_020461.3	NP_065194.2:p.?	NC_000022.10:g.50657892G>A	(Likely) benign	1 lab	645cb2a8cc
19:54822902 LILRA5 CG>C	19	54822902	54822903	CG	C	LILRA5	c.493del	NM_021250.4	NP_067073.1:p.(Arg165GlyfsTer2)	NC_000019.9:g.54822903del	VUS	1 lab	645dab758e
6:33156937 COL11A2 C>G	6	33156937	33156937	C	G	COL11A2	c.261G>C	NM_080680.2	NP_542411.2:p.(Leu87=)	NC_000006.11:g.33156937C>G	(Likely) benign	1 lab	645df13e77
X:153174992 ARHGAP4 G>A	X	153174992	153174992	G	A	ARHGAP4	c.2535-3C>T	NM_001164741.1	NP_001158213.1:p.?	NC_000023.10:g.153174992G>A	(Likely) benign	1 lab	6461087e0f
2:234681059 UGT1A1 T>G	2	234681059	234681059	T	G	UGT1A1	c.1456T>G	NM_000463.2	NP_000454.1:p.(Tyr486Asp)	NC_000002.11:g.234681059T>G	(Likely) pathogenic	1 lab	6461edb2d9
9:140128944 SLC34A3 G>A	9	140128944	140128944	G	A	SLC34A3	c.1170G>A	NM_001177317.1	NP_001170788.1:p.(Gln390=)	NC_000009.11:g.140128944G>A	(Likely) benign	1 lab	646319a2e3
X:153278836 IRAK1 C>T	X	153278836	153278836	C	T	IRAK1	c.1588G>A	NM_001569.3	NP_001560.2:p.(Gly530Arg)	NC_000023.10:g.153278836C>T	(Likely) benign	1 lab	6463effaa7
12:39726829 KIF21A A>G	12	39726829	39726829	A	G	KIF21A	c.2568T>C	NM_001173464.1	NP_001166935.1:p.(Asp856=)	NC_000012.11:g.39726829A>G	(Likely) benign	1 lab	6464aaf6f0
18:11753911 GNAL C>T	18	11753911	11753911	C	T	GNAL	c.591C>T	NM_182978.3	NP_892023.1:p.(Ser197=)	NC_000018.9:g.11753911C>T	(Likely) benign	1 lab	646792eb67
20:57429087 GNAS C>T	20	57429087	57429087	C	T	GNAS	c.580C>T	NM_001077490.2	NP_001070958.1:p.(Arg194Trp)	NC_000020.10:g.57429087C>T	VUS	1 lab	64690b4d51
3:132394221 UBA5 A>T	3	132394221	132394221	A	T	UBA5	c.942A>T	NM_024818.4	NP_079094.1:p.(Glu314Asp)	NC_000003.11:g.132394221A>T	(Likely) benign	1 lab	6469ab4477
9:135801060 TSC1 G>GTT	9	135801060	135801062	G	GTT	TSC1	c.276_277insAA	NM_000368.4	NP_000359.1:p.(Leu93AsnfsTer6)	NC_000009.11:g.135801061_135801062insTT	(Likely) pathogenic	1 lab	6469c59936
12:49421806 KMT2D TC>T	12	49421806	49421811	TC	T	KMT2D	c.14500del	NM_003482.4	NP_003473.3:p.(Glu4834LysfsTer24)	NC_000012.11:g.49421811del	(Likely) pathogenic	1 lab	f442012b57
12:105546154 WASHC4 G>A	12	105546154	105546154	G	A	WASHC4	c.2686G>A	NM_001293640.1	NP_001280569.1:p.(Gly896Ser)	NC_000012.11:g.105546154G>A	VUS	1 lab	646b2e0d60
5:150923152 FAT2 G>C	5	150923152	150923152	G	C	FAT2	c.7536C>G	NM_001447.2	NP_001438.1:p.(Pro2512=)	NC_000005.9:g.150923152G>C	(Likely) benign	1 lab	646c3280c1
8:1808127 ARHGEF10 G>A	8	1808127	1808127	G	A	ARHGEF10	c.258G>A	NM_014629.2	NP_055444.2:p.(Pro86=)	NC_000008.10:g.1808127G>A	(Likely) benign	1 lab	646ee84436
7:150878259 ASB10 C>T	7	150878259	150878259	C	T	ASB10	c.871G>A	NM_001142460.1	NP_001135932.2:p.(Asp291Asn)	NC_000007.13:g.150878259C>T	(Likely) benign	1 lab	646f10d8ae
19:7534850 ARHGEF18 C>A	19	7534850	7534850	C	A	ARHGEF18	c.3848C>A	NM_001367823.1	NP_001354752.1:p.(Thr1283Asn)	NC_000019.9:g.7534850C>A	VUS	1 lab	646fe70908
21:47841941 PCNT A>G	21	47841941	47841941	A	G	PCNT	c.7082A>G	NM_006031.5	NP_006022.3:p.(Gln2361Arg)	NC_000021.8:g.47841941A>G	(Likely) benign	1 lab	64703c3bc1
16:57685179 ADGRG1 C>T	16	57685179	57685179	C	T	ADGRG1	c.132C>T	NM_001145772.2	NP_001139244.1:p.(Ser44=)	NC_000016.9:g.57685179C>T	(Likely) benign	1 lab	647211b19e
16:3807387 CREBBP T>C	16	3807387	3807387	T	C	CREBBP	c.3610-10A>G	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3807387T>C	(Likely) benign	1 lab	647449e34f
17:3379463 ASPA T>C	17	3379463	3379463	T	C	ASPA				NC_000017.10:g.3379463T>C	(Likely) benign	1 lab	6475890319
8:120814020 TAF2 A>G	8	120814020	120814020	A	G	TAF2	c.792+14T>C	NM_003184.4	NP_003175.2:p.?	NC_000008.10:g.120814020A>G	(Likely) benign	1 lab	f4425479a9
11:1578166 DUSP8 C>T	11	1578166	1578166	C	T	DUSP8	c.1460G>A	NM_004420.3	NP_004411.2:p.(Gly487Asp)	NC_000011.9:g.1578166C>T	(Likely) benign	1 lab	647a033d5c
17:18047249 MYO15A C>T	17	18047249	18047249	C	T	MYO15A	c.6112C>T	NM_016239.3	NP_057323.3:p.(Arg2038Cys)	NC_000017.10:g.18047249C>T	(Likely) benign	1 lab	647c0c6372
6:43011268 CUL7 C>T	6	43011268	43011268	C	T	CUL7	c.3525G>A	NM_001168370.1	NP_001161842.1:p.(Ser1175=)	NC_000006.11:g.43011268C>T	(Likely) benign	1 lab	647c654ffe
X:8138170 VCX2 C>A	X	8138170	8138170	C	A	VCX2	c.323G>T	NM_016378.3	NP_057462.2:p.(Ser108Ile)	NC_000023.10:g.8138170C>A	(Likely) benign	1 lab	648049b903
18:32345949 DTNA G>A	18	32345949	32345949	G	A	DTNA	c.92G>A	NM_001198939.2	NP_001185868.1:p.(Arg31Gln)	NC_000018.9:g.32345949G>A	(Likely) benign	1 lab	f443b3a41f
8:117875366 RAD21 T>C	8	117875366	117875366	T	C	RAD21	c.274+3A>G	NM_006265.2	NP_006256.1:p.?	NC_000008.10:g.117875366T>C	(Likely) pathogenic	1 lab	6481a56acc
16:2134546 TSC2 CG>C	16	2134546	2134547	CG	C	TSC2	c.4324del	NM_000548.5	NP_000539.2:p.(Glu1442ArgfsTer34)	NC_000016.9:g.2134547del	(Likely) pathogenic	1 lab	6482c443e0
3:164735625 SI C>T	3	164735625	164735625	C	T	SI	c.3557G>A	NM_001041.3	NP_001032.2:p.(Arg1186His)	NC_000003.11:g.164735625C>T	VUS	1 lab	6483353a02
1:12333159 VPS13D G>A	1	12333159	12333159	G	A	VPS13D	c.2203G>A	NM_015378.4	NP_056193.2:p.(Asp735Asn)	NC_000001.10:g.12333159G>A	VUS	1 lab	648405f8c9
6:32064371 TNXB A>T	6	32064371	32064371	A	T	TNXB	c.1259T>A	NM_019105.6	NP_061978.6:p.(Val420Glu)	NC_000006.11:g.32064371A>T	VUS	1 lab	64843fcd93
11:62287454 AHNAK G>A	11	62287454	62287454	G	A	AHNAK	c.14435C>T	NM_001620.3	NP_001611.1:p.(Ser4812Leu)	NC_000011.9:g.62287454G>A	VUS	1 lab	f443f1c277
15:90168546 TICRR C>T	15	90168546	90168546	C	T	TICRR	c.5005C>T	NM_152259.3	NP_689472.3:p.(Pro1669Ser)	NC_000015.9:g.90168546C>T	VUS	1 lab	6484fd49a7
2:220333957 SPEG C>T	2	220333957	220333957	C	T	SPEG	c.3571C>T	NM_005876.4	NP_005867.3:p.(Leu1191=)	NC_000002.11:g.220333957C>T	(Likely) benign	1 lab	64871b9733
7:99752670 TRAPPC14 G>A	7	99752670	99752670	G	A	TRAPPC14	c.1707C>T	NM_018275.5	NP_060745.3:p.(Arg569=)	NC_000007.13:g.99752670G>A	VUS	1 lab	6488677e1f
9:114476867 SHOC1 A>G	9	114476867	114476867	A	G	SHOC1	c.2081T>C	NM_173521.4	NP_775792.4:p.(Ile694Thr)	NC_000009.11:g.114476867A>G	(Likely) benign	1 lab	64890bc7dc
15:44198072 FRMD5 C>T	15	44198072	44198072	C	T	FRMD5	c.505G>A	NM_032892.5	NP_116281.2:p.(Glu169Lys)	NC_000015.9:g.44198072C>T	(Likely) benign	1 lab	f444eee13a
7:103202288 RELN G>T	7	103202288	103202288	G	T	RELN	c.5323C>A	NM_005045.3	NP_005036.2:p.(Arg1775=)	NC_000007.13:g.103202288G>T	(Likely) benign	1 lab	648a89c16d
X:3241738 MXRA5 G>A	X	3241738	3241738	G	A	MXRA5	c.1988C>T	NM_015419.3	NP_056234.2:p.(Thr663Met)	NC_000023.10:g.3241738G>A	(Likely) benign	1 lab	648ec89463
9:136219374 SURF1 G>A	9	136219374	136219374	G	A	SURF1	c.678C>T	NM_003172.3	NP_003163.1:p.(His226=)	NC_000009.11:g.136219374G>A	(Likely) benign	1 lab	648ecd918a
X:67653009 OPHN1 C>T	X	67653009	67653009	C	T	OPHN1	c.-5+1G>A	NM_002547.2	NP_002538.1:p.?	NC_000023.10:g.67653009C>T	VUS	1 lab	648f454562
1:204955235 NFASC G>A	1	204955235	204955235	G	A	NFASC	c.2772G>A	NM_001160332.1	NP_001153804.1:p.(Pro924=)	NC_000001.10:g.204955235G>A	(Likely) benign	1 lab	6492d65398
X:49142909 PPP1R3F C>T	X	49142909	49142909	C	T	PPP1R3F	c.1757C>T	NM_033215.4	NP_149992.3:p.(Thr586Ile)	NC_000023.10:g.49142909C>T	(Likely) benign	1 lab	6492e768c4
1:65305287 JAK1 G>A	1	65305287	65305287	G	A	JAK1	c.2841C>T	NM_001321853.1	NP_001308782.1:p.(Asp947=)	NC_000001.10:g.65305287G>A	(Likely) benign	1 lab	6492fed4e6
12:13716359 GRIN2B C>T	12	13716359	13716359	C	T	GRIN2B	c.3813G>A	NM_000834.4	NP_000825.2:p.(Ala1271=)	NC_000012.11:g.13716359C>T	(Likely) benign	1 lab	6494c64cb9
9:2622212 VLDLR C>A	9	2622212	2622212	C	A	VLDLR	c.23C>A	NM_003383.4	NP_003374.3:p.(Ala8Glu)	NC_000009.11:g.2622212C>A	VUS	1 lab	6495007a03
17:18035821 MYO15A G>A	17	18035821	18035821	G	A	MYO15A	c.4261G>A	NM_016239.3	NP_057323.3:p.(Ala1421Thr)	NC_000017.10:g.18035821G>A	VUS	1 lab	6495cd1087
2:72360229 CYP26B1 C>T	2	72360229	72360229	C	T	CYP26B1	c.1069G>A	NM_019885.3	NP_063938.1:p.(Val357Ile)	NC_000002.11:g.72360229C>T	VUS	1 lab	64978e02f6
22:30032762 NF2 T>G	22	30032762	30032762	T	G	NF2	c.137T>G	NM_000268.3	NP_000259.1:p.(Leu46Arg)	NC_000022.10:g.30032762T>G	VUS	1 lab	6497a60847
8:126069843 WASHC5 G>A	8	126069843	126069843	G	A	WASHC5	c.1830C>T	NM_014846.3	NP_055661.3:p.(Ser610=)	NC_000008.10:g.126069843G>A	(Likely) benign	1 lab	64984bfa31
14:105417261 AHNAK2 G>C	14	105417261	105417261	G	C	AHNAK2	c.4527C>G	NM_138420.3	NP_612429.2:p.(Gly1509=)	NC_000014.8:g.105417261G>C	(Likely) benign	1 lab	64987551d7
6:49421477 MMUT A>T	6	49421477	49421477	A	T	MMUT	c.912-8T>A	NM_000255.3	NP_000246.2:p.?	NC_000006.11:g.49421477A>T	VUS	1 lab	6499981280
14:73640279 PSEN1 A>G	14	73640279	73640279	A	G	PSEN1	c.344A>G	NM_000021.3	NP_000012.1:p.(Tyr115Cys)	NC_000014.8:g.73640279A>G	(Likely) pathogenic	1 lab	649a27f8ad
7:141423831 WEE2 A>G	7	141423831	141423831	A	G	WEE2	c.1118A>G	NM_001105558.1	NP_001099028.1:p.(Asn373Ser)	NC_000007.13:g.141423831A>G	(Likely) benign	1 lab	649a86a862
X:117960387 ZCCHC12 G>A	X	117960387	117960387	G	A	ZCCHC12	c.1180G>A	NM_173798.3	NP_776159.1:p.(Glu394Lys)	NC_000023.10:g.117960387G>A	(Likely) benign	1 lab	649ac895b6
1:2160901 SKI G>A	1	2160901	2160901	G	A	SKI	c.696G>A	NM_003036.3	NP_003027.1:p.(Leu232=)	NC_000001.10:g.2160901G>A	(Likely) benign	1 lab	649b548a0e
X:54784426 ITIH6 G>T	X	54784426	54784426	G	T	ITIH6	c.2081C>A	NM_198510.2	NP_940912.1:p.(Pro694His)	NC_000023.10:g.54784426G>T	(Likely) benign	1 lab	649e3bdcb8
3:3170829 TRNT1 C>T	3	3170829	3170829	C	T	TRNT1	c.105C>T	NM_182916.3	NP_886552.3:p.(Pro35=)	NC_000003.11:g.3170829C>T	(Likely) benign	1 lab	649e8dcf33
7:557068 PDGFA G>A	7	557068	557068	G	A	PDGFA	c.123C>T	NM_002607.5	NP_002598.4:p.(Ile41=)	NC_000007.13:g.557068G>A	(Likely) benign	1 lab	649fbd7d19
16:685732 METTL26 C>A	16	685732	685732	C	A	METTL26	c.240G>T	NM_001288710.1	NP_001275639.1:p.(Lys80Asn)	NC_000016.9:g.685732C>A	VUS	1 lab	64a128bbc4
8:100160113 VPS13B G>A	8	100160113	100160113	G	A	VPS13B	c.1888G>A	NM_017890.4	NP_060360.3:p.(Ala630Thr)	NC_000008.10:g.100160113G>A	VUS	1 lab	64a4090616
4:15569336 CC2D2A C>T	4	15569336	15569336	C	T	CC2D2A	c.3325C>T	NM_001080522.2	NP_001073991.2:p.(Arg1109Ter)	NC_000004.11:g.15569336C>T	(Likely) pathogenic	1 lab	64a4c4e22f
11:58893447 FAM111B AAAG>A	11	58893447	58893453	AAAG	A	FAM111B	c.1881_1883del	NM_198947.4	NP_945185.1:p.(Arg627del)	NC_000011.9:g.58893451_58893453del	(Likely) pathogenic	1 lab	64a5cc3d98
3:33060002 GLB1 G>A	3	33060002	33060002	G	A	GLB1	c.1429C>T	NM_001317040.1	NP_001303969.1:p.(Pro477Ser)	NC_000003.11:g.33060002G>A	VUS	1 lab	64a76c77df
2:169826877 ABCB11 C>T	2	169826877	169826877	C	T	ABCB11	c.1639-152G>A	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169826877C>T	(Likely) benign	1 lab	f448d07cf6
17:33513360 UNC45B G>A	17	33513360	33513360	G	A	UNC45B	c.2572G>A	NM_001033576.1	NP_001028748.1:p.(Asp858Asn)	NC_000017.10:g.33513360G>A	VUS	1 lab	64abcdf0e9
16:89617020 SPG7 G>T	16	89617020	89617020	G	T	SPG7	c.1779+3G>T	NM_001363850.1	NP_001350779.1:p.?	NC_000016.9:g.89617020G>T	(Likely) benign	1 lab	64ad72789f
10:15561282 ITGA8 A>G	10	15561282	15561282	A	G	ITGA8	c.3105+7T>C	NM_003638.2	NP_003629.2:p.?	NC_000010.10:g.15561282A>G	(Likely) benign	1 lab	64adafa119
17:73840320 UNC13D C>T	17	73840320	73840320	C	T	UNC13D	c.99G>A	NM_199242.2	NP_954712.1:p.(Pro33=)	NC_000017.10:g.73840320C>T	(Likely) benign	1 lab	64ade1f828
10:124793714 ACADSB C>CA	10	124793714	124793716	C	CA	ACADSB	c.43-156dup	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124793716dup	(Likely) benign	1 lab	64ae1b0669
19:42874888 MEGF8 C>T	19	42874888	42874888	C	T	MEGF8	c.7041C>T	NM_001271938.2	NP_001258867.1:p.(Asp2347=)	NC_000019.9:g.42874888C>T	(Likely) benign	1 lab	64ae55be4e
10:16932484 CUBN T>C	10	16932484	16932484	T	C	CUBN	c.8641A>G	NM_001081.3	NP_001072.2:p.(Thr2881Ala)	NC_000010.10:g.16932484T>C	VUS	1 lab	64ae8698c4
15:86283494 AKAP13 C>T	15	86283494	86283494	C	T	AKAP13	c.7611C>T	NM_006738.5	NP_006729.4:p.(Ser2537=)	NC_000015.9:g.86283494C>T	(Likely) benign	1 lab	64aeea4c30
17:29559163 NF1 A>C	17	29559163	29559163	A	C	NF1	c.3270A>C	NM_000267.3	NP_000258.1:p.(Gly1090=)	NC_000017.10:g.29559163A>C	(Likely) benign	1 lab	64b0f6935b
6:16327039 ATXN1 C>T	6	16327039	16327039	C	T	ATXN1	c.1503G>A	NM_000332.3	NP_000323.2:p.(Ala501=)	NC_000006.11:g.16327039C>T	(Likely) benign	1 lab	64b7b2faeb
2:71780969 DYSF G>A	2	71780969	71780969	G	A	DYSF	c.2014G>A	NM_001130981.1	NP_001124453.1:p.(Val672Met)	NC_000002.11:g.71780969G>A	VUS	1 lab	64b92518c0
20:61453109 COL9A3 G>A	20	61453109	61453109	G	A	COL9A3	c.370G>A	NM_001853.4	NP_001844.3:p.(Gly124Arg)	NC_000020.10:g.61453109G>A	VUS	1 lab	64b928521a
9:32973540 APTX T>C	9	32973540	32973540	T	C	APTX	c.985A>G	NM_001195249.1	NP_001182178.1:p.(Ile329Val)	NC_000009.11:g.32973540T>C	(Likely) benign	1 lab	64ba46848a
9:79954611 VPS13A T>C	9	79954611	79954611	T	C	VPS13A	c.6558T>C	NM_033305.2	NP_150648.2:p.(Val2186=)	NC_000009.11:g.79954611T>C	(Likely) benign	1 lab	64bc434734
12:103246709 PAH G>A	12	103246709	103246709	G	A	PAH	c.726C>T	NM_000277.1	NP_000268.1:p.(Leu242=)	NC_000012.11:g.103246709G>A	(Likely) pathogenic	1 lab	64be4ffbaa
15:101447478 ALDH1A3 G>A	15	101447478	101447478	G	A	ALDH1A3	c.1386G>A	NM_000693.3	NP_000684.2:p.(Thr462=)	NC_000015.9:g.101447478G>A	(Likely) benign	1 lab	64bf52a90b
X:149765039 MTM1 G>A	X	149765039	149765039	G	A	MTM1	c.136+5G>A	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149765039G>A	VUS	1 lab	64c1330e22
6:129634048 LAMA2 A>G	6	129634048	129634048	A	G	LAMA2	c.3217A>G	NM_000426.3	NP_000417.2:p.(Asn1073Asp)	NC_000006.11:g.129634048A>G	(Likely) benign	1 lab	64c1cdc3c7
11:117693184 FXYD2 C>T	11	117693184	117693184	C	T	FXYD2	c.76G>A	NM_001680.5	NP_001671.2:p.(Val26Ile)	NC_000011.9:g.117693184C>T	(Likely) benign	1 lab	64c2126d6e
9:34656829 IL11RA C>T	9	34656829	34656829	C	T	IL11RA	c.255C>T	NM_001142784.2	NP_001136256.1:p.(Asp85=)	NC_000009.11:g.34656829C>T	(Likely) benign	1 lab	64c3a4f47f
12:120152035 CIT C>T	12	120152035	120152035	C	T	CIT	c.4273G>A	NM_001206999.1	NP_001193928.1:p.(Val1425Met)	NC_000012.11:g.120152035C>T	VUS	1 lab	64c3d3f9ef
17:72838807 GRIN2C GGTGGGC>G	17	72838807	72838822	GGTGGGC	G	GRIN2C	c.3463_3468del	NM_000835.6	NP_000826.2:p.(Ala1155_His1156del)	NC_000017.10:g.72838817_72838822del	VUS	1 lab	64c537b525
16:27456613 IL21R G>C	16	27456613	27456613	G	C	IL21R	c.851+16G>C	NM_181079.5	NP_851565.4:p.?	NC_000016.9:g.27456613G>C	(Likely) benign	1 lab	f44e7e54a4
X:131212333 FRMD7 T>G	X	131212333	131212333	T	G	FRMD7	c.1712A>C	NM_194277.2	NP_919253.1:p.(Asp571Ala)	NC_000023.10:g.131212333T>G	(Likely) benign	1 lab	64c7637117
4:106196770 TET2 G>A	4	106196770	106196770	G	A	TET2	c.5103G>A	NM_001127208.2	NP_001120680.1:p.(Met1701Ile)	NC_000004.11:g.106196770G>A	(Likely) benign	1 lab	64c78c69b0
16:8844355 ABAT G>A	16	8844355	8844355	G	A	ABAT	c.275G>A	NM_000663.4	NP_000654.2:p.(Arg92Gln)	NC_000016.9:g.8844355G>A	(Likely) pathogenic	1 lab	64c79e65bb
17:29585520 NF1 G>T	17	29585520	29585520	G	T	NF1	c.4269G>T	NM_000267.3	NP_000258.1:p.(Lys1423Asn)	NC_000017.10:g.29585520G>T	(Likely) pathogenic	1 lab	64c983964f
16:84056442 SLC38A8 G>C	16	84056442	84056442	G	C	SLC38A8	c.743C>G	NM_001080442.2	NP_001073911.1:p.(Ser248Cys)	NC_000016.9:g.84056442G>C	(Likely) benign	1 lab	64c9b97ec1
11:116691771 APOA4 C>G	11	116691771	116691771	C	G	APOA4	c.1003G>C	NM_000482.3	NP_000473.2:p.(Asp335His)	NC_000011.9:g.116691771C>G	(Likely) benign	1 lab	64cd99fcb0
22:45943094 FBLN1 C>T	22	45943094	45943094	C	T	FBLN1	c.1441+10C>T	NM_006486.2	NP_006477.2:p.?	NC_000022.10:g.45943094C>T	(Likely) benign	1 lab	64cdfa9c22
12:110565250 IFT81 A>C	12	110565250	110565250	A	C	IFT81	c.65A>C	NM_014055.3	NP_054774.2:p.(Asn22Thr)	NC_000012.11:g.110565250A>C	VUS	1 lab	64cf8f2942
8:141468477 TRAPPC9 T>C	8	141468477	141468477	T	C	TRAPPC9	c.187A>G	NM_031466.6	NP_113654.4:p.(Arg63Gly)	NC_000008.10:g.141468477T>C	(Likely) benign	1 lab	64cfc5f720
22:43032829 CYB5R3 T>C	22	43032829	43032829	T	C	CYB5R3	c.144A>G	NM_001171660.1	NP_001165131.1:p.(Pro48=)	NC_000022.10:g.43032829T>C	(Likely) benign	1 lab	64d15687cd
X:153171851 AVPR2 C>T	X	153171851	153171851	C	T	AVPR2	c.891C>T	NM_001146151.2	NP_001139623.1:p.(Asp297=)	NC_000023.10:g.153171851C>T	(Likely) benign	1 lab	64d57033b9
2:128044543 ERCC3 G>A	2	128044543	128044543	G	A	ERCC3	c.886C>T	NM_001303418.1	NP_001290347.1:p.(Arg296Cys)	NC_000002.11:g.128044543G>A	VUS	1 lab	64d640cddc
7:1512731 INTS1 C>T	7	1512731	1512731	C	T	INTS1	c.6047G>A	NM_001080453.3	NP_001073922.2:p.(Arg2016Gln)	NC_000007.13:g.1512731C>T	(Likely) benign	1 lab	64d7b08b90
15:83328407 AP3B2 G>A	15	83328407	83328407	G	A	AP3B2	c.3211C>T	NM_001278512.1	NP_001265441.1:p.(Arg1071Trp)	NC_000015.9:g.83328407G>A	VUS	1 lab	64d7c820fb
10:85956349 CDHR1 C>T	10	85956349	85956349	C	T	CDHR1	c.240C>T	NM_033100.4	NP_149091.1:p.(Val80=)	NC_000010.10:g.85956349C>T	(Likely) benign	1 lab	64db09bf6a
2:39187789 ARHGEF33 GGTAAA>G	2	39187789	39187799	GGTAAA	G	ARHGEF33	c.2343+6_2343+10del	NM_001145451.5	NP_001138923.2:p.?	NC_000002.11:g.39187795_39187799del	(Likely) benign	1 lab	64dcd15efb
1:160100270 ATP1A2 G>A	1	160100270	160100270	G	A	ATP1A2				NC_000001.10:g.160100270G>A	(Likely) benign	1 lab	76ccf451e8
12:48368650 COL2A1 AG>A	12	48368650	48368655	AG	A	COL2A1	c.3887-6del	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48368655del	(Likely) benign	1 lab	64df99b764
7:27239652 HOXA13 G>T	7	27239652	27239652	G	T	HOXA13	c.45C>A	NM_000522.5	NP_000513.2:p.(Thr15=)	NC_000007.13:g.27239652G>T	(Likely) benign	1 lab	64dfa1a307
13:23912151 SACS T>C	13	23912151	23912151	T	C	SACS	c.5864A>G	NM_014363.5	NP_055178.3:p.(Asp1955Gly)	NC_000013.10:g.23912151T>C	VUS	1 lab	64e0d06d95
2:178534252 PDE11A C>T	2	178534252	178534252	C	T	PDE11A	c.2531G>A	NM_016953.4	NP_058649.3:p.(Arg844Gln)	NC_000002.11:g.178534252C>T	VUS	1 lab	64e110565a
7:148524327 EZH2 A>G	7	148524327	148524327	A	G	EZH2	c.657T>C	NM_004456.4	NP_004447.2:p.(Pro219=)	NC_000007.13:g.148524327A>G	(Likely) benign	1 lab	64e12399e4
X:70472963 ZMYM3 G>C	X	70472963	70472963	G	C	ZMYM3	c.143C>G	NM_001171162.1	NP_001164633.1:p.(Pro48Arg)	NC_000023.10:g.70472963G>C	(Likely) benign	1 lab	64e28e7914
3:43647340 ANO10 T>A	3	43647340	43647340	T	A	ANO10	c.5A>T	NM_001204831.2	NP_001191760.1:p.(Lys2Ile)	NC_000003.11:g.43647340T>A	(Likely) benign	1 lab	64e3d69820
2:25965095 ASXL2 G>T	2	25965095	25965095	G	T	ASXL2	c.4111C>A	NM_018263.5	NP_060733.4:p.(Gln1371Lys)	NC_000002.11:g.25965095G>T	(Likely) benign	1 lab	64e4c1be56
X:133547981 PHF6 C>T	X	133547981	133547981	C	T	PHF6	c.714C>T	NM_032458.2	NP_115834.1:p.(Ala238=)	NC_000023.10:g.133547981C>T	(Likely) benign	1 lab	64e5fc97f2
9:140772638 CACNA1B C>T	9	140772638	140772638	C	T	CACNA1B	c.253C>T	NM_000718.3	NP_000709.1:p.(Arg85Cys)	NC_000009.11:g.140772638C>T	VUS	1 lab	64e605962d
1:248028097 TRIM58 C>T	1	248028097	248028097	C	T	TRIM58	c.607C>T	NM_015431.4	NP_056246.3:p.(Arg203Trp)	NC_000001.10:g.248028097C>T	VUS	1 lab	64e6c3ddcb
16:2149642 PKD1 C>T	16	2149642	2149642	C	T	PKD1	c.10050+3G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2149642C>T	(Likely) benign	1 lab	f45376dfbf
16:3828818 CREBBP G>A	16	3828818	3828818	G	A	CREBBP	c.1824C>T	NM_004380.2	NP_004371.2:p.(Leu608=)	NC_000016.9:g.3828818G>A	(Likely) benign	1 lab	64e71036fb
2:27290353 AGBL5 TC>T	2	27290353	27290355	TC	T	AGBL5	c.2090-7del	NM_021831.6	NP_068603.4:p.?	NC_000002.11:g.27290355del	(Likely) benign	1 lab	64e72007ac
1:35351691 DLGAP3 A>G	1	35351691	35351691	A	G	DLGAP3	c.1582T>C	NM_001080418.3	NP_001073887.1:p.(Ser528Pro)	NC_000001.10:g.35351691A>G	VUS	1 lab	64e8e26fd3
10:123279504 FGFR2 T>C	10	123279504	123279504	T	C	FGFR2	c.928A>G	NM_000141.5	NP_000132.3:p.(Lys310Glu)	NC_000010.10:g.123279504T>C	VUS	1 lab	f45673e8d0
7:151843693 KMT2C T>A	7	151843693	151843693	T	A	KMT2C	c.14022A>T	NM_170606.2	NP_733751.2:p.(Ile4674=)	NC_000007.13:g.151843693T>A	(Likely) benign	1 lab	64ea3c4b9f
6:66358803 EYS T>C	6	66358803	66358803	T	C	EYS	c.-447-9018A>G	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66358803T>C	(Likely) benign	1 lab	64ead5de95
22:38539157 PLA2G6 G>A	22	38539157	38539157	G	A	PLA2G6	c.564C>T	NM_003560.2	NP_003551.2:p.(Thr188=)	NC_000022.10:g.38539157G>A	(Likely) benign	1 lab	64f0aef9be
17:80042106 FASN T>G	17	80042106	80042106	T	G	FASN	c.4919+4A>C	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80042106T>G	(Likely) benign	1 lab	64f268d972
12:56115021 RDH5 T>C	12	56115021	56115021	T	C	RDH5	c.53T>C	NM_001199771.1	NP_001186700.1:p.(Leu18Pro)	NC_000012.11:g.56115021T>C	VUS	1 lab	64f26ec800
12:49421795 KMT2D G>A	12	49421795	49421795	G	A	KMT2D	c.14512C>T	NM_003482.3	NP_003473.3:p.(Pro4838Ser)	NC_000012.11:g.49421795G>A	(Likely) benign	1 lab	64f28547f2
10:21805819 SKIDA1 T>C	10	21805819	21805819	T	C	SKIDA1	c.933A>G	NM_207371.3	NP_997254.3:p.(Ala311=)	NC_000010.10:g.21805819T>C	(Likely) benign	1 lab	64f28fa454
10:112404380 RBM20 CGGCCTA>C	10	112404380	112404386	CGGCCTA	C	RBM20	c.169_174del	NM_001134363.3	NP_001127835.2:p.(Gly57_Leu58del)	NC_000010.10:g.112404381_112404386del	(Likely) benign	1 lab	64f2fa21db
2:31560528 XDH G>A	2	31560528	31560528	G	A	XDH	c.3930C>T	NM_000379.3	NP_000370.2:p.(Cys1310=)	NC_000002.11:g.31560528G>A	(Likely) benign	1 lab	64f42e46e0
6:32015577 TNXB T>C	6	32015577	32015577	T	C	TNXB	c.10252A>G	NM_019105.6	NP_061978.6:p.(Arg3418Gly)	NC_000006.11:g.32015577T>C	VUS	1 lab	64f4372638
10:14941317 SUV39H2 TA>T	10	14941317	14941327	TA	T	SUV39H2	c.850-211del	NM_001193424.2	NP_001180353.1:p.?	NC_000010.10:g.14941327del	(Likely) benign	1 lab	64f7f78ae7
14:34269691 NPAS3 C>T	14	34269691	34269691	C	T	NPAS3	c.2178C>T	NM_001164749.1	NP_001158221.1:p.(Ala726=)	NC_000014.8:g.34269691C>T	(Likely) benign	1 lab	64f963aced
9:2643464 VLDLR C>T	9	2643464	2643464	C	T	VLDLR	c.753C>T	NM_003383.4	NP_003374.3:p.(Cys251=)	NC_000009.11:g.2643464C>T	(Likely) benign	1 lab	64fa1323a0
6:158565374 SERAC1 A>C	6	158565374	158565374	A	C	SERAC1	c.566T>G	NM_032861.3	NP_116250.3:p.(Leu189Arg)	NC_000006.11:g.158565374A>C	VUS	1 lab	64fa1778a2
X:101093380 NXF5 G>A	X	101093380	101093380	G	A	NXF5	c.738C>T	NM_032946.2	NP_116564.2:p.(Asp246=)	NC_000023.10:g.101093380G>A	(Likely) benign	1 lab	64fae38229
11:102668717 MMP1 A>G	11	102668717	102668717	A	G	MMP1	c.105+2T>C	NM_002421.3	NP_002412.1:p.?	NC_000011.9:g.102668717A>G	VUS	1 lab	64fb8e7b18
1:5937323 NPHP4 C>T	1	5937323	5937323	C	T	NPHP4	c.2647G>A	NM_015102.4	NP_055917.1:p.(Val883Met)	NC_000001.10:g.5937323C>T	VUS	1 lab	64fd5703fe
16:23456398 COG7 C>T	16	23456398	23456398	C	T	COG7	c.406G>A	NM_153603.3	NP_705831.1:p.(Ala136Thr)	NC_000016.9:g.23456398C>T	VUS	1 lab	64fda019b8
20:420895 TBC1D20 G>A	20	420895	420895	G	A	TBC1D20	c.765C>T	NM_144628.3	NP_653229.1:p.(Ala255=)	NC_000020.10:g.420895G>A	(Likely) benign	1 lab	64fe95ab43
17:66547263 PRKAR1A T>G	17	66547263	66547263	T	G	PRKAR1A	c.1012T>G	NM_001276290.1	NP_001263219.1:p.(Ter338GluextTer7)	NC_000017.10:g.66547263T>G	VUS	1 lab	65003f8f93
22:18640510 USP18 A>G	22	18640510	18640510	A	G	USP18	c.80A>G	NM_017414.3	NP_059110.2:p.(Glu27Gly)	NC_000022.10:g.18640510A>G	(Likely) benign	1 lab	650061521b
9:133963008 LAMC3 G>A	9	133963008	133963008	G	A	LAMC3	c.4376G>A	NM_006059.3	NP_006050.3:p.(Arg1459Gln)	NC_000009.11:g.133963008G>A	(Likely) benign	1 lab	6500731ac8
11:76873365 MYO7A A>C	11	76873365	76873365	A	C	MYO7A	c.1543A>C	NM_000260.3	NP_000251.3:p.(Lys515Gln)	NC_000011.9:g.76873365A>C	VUS	1 lab	65010e39b5
10:105830285 COL17A1 C>T	10	105830285	105830285	C	T	COL17A1	c.506G>A	NM_000494.4	NP_000485.3:p.(Arg169Gln)	NC_000010.10:g.105830285C>T	VUS	1 lab	f4572a8fbd
14:89319352 TTC8 A>G	14	89319352	89319352	A	G	TTC8	c.710A>G	NM_001288781.1	NP_001275710.1:p.(Gln237Arg)	NC_000014.8:g.89319352A>G	VUS	1 lab	6506f5cd29
8:48843261 PRKDC C>T	8	48843261	48843261	C	T	PRKDC	c.1863G>A	NM_006904.6	NP_008835.5:p.(Ser621=)	NC_000008.10:g.48843261C>T	(Likely) benign	1 lab	65077ba949
2:179412679 TTN A>G	2	179412679	179412679	A	G	TTN	c.93674T>C	NM_001267550.1	NP_001254479.1:p.(Ile31225Thr)	NC_000002.11:g.179412679A>G	VUS	1 lab	6509f79f22
14:95574416 DICER1 AG>A	14	95574416	95574418	AG	A	DICER1	c.2450del	NM_177438.3	NP_803187.1:p.(Pro817LeufsTer15)	NC_000014.8:g.95574418del	(Likely) pathogenic	1 lab	650cd90bdd
14:64921543 MTHFD1 G>A	14	64921543	64921543	G	A	MTHFD1	c.2668G>A	NM_005956.4	NP_005947.3:p.(Asp890Asn)	NC_000014.8:g.64921543G>A	VUS	1 lab	650d7763d4
X:49054302 SYP G>A	X	49054302	49054302	G	A	SYP	c.103-4C>T	NM_003179.2	NP_003170.1:p.?	NC_000023.10:g.49054302G>A	(Likely) benign	1 lab	650e81b7ce
15:28520046 HERC2 C>T	15	28520046	28520046	C	T	HERC2	c.643+5G>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28520046C>T	(Likely) benign	1 lab	650f15f0bb
17:29496907 NF1 A>G	17	29496907	29496907	A	G	NF1	c.480-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29496907A>G	(Likely) pathogenic	1 lab	6510d245b6
10:100193727 HPS1 G>A	10	100193727	100193727	G	A	HPS1	c.377C>T	NM_001322481.1	NP_001309410.1:p.(Ala126Val)	NC_000010.10:g.100193727G>A	(Likely) benign	1 lab	651222a9a6
3:10123089 FANCD2 C>T	3	10123089	10123089	C	T	FANCD2	c.3165C>T	NM_001319984.1	NP_001306913.1:p.(Tyr1055=)	NC_000003.11:g.10123089C>T	(Likely) benign	1 lab	65126e8288
19:9087987 MUC16 G>A	19	9087987	9087987	G	A	MUC16	c.3828C>T	NM_024690.2	NP_078966.2:p.(Gly1276=)	NC_000019.9:g.9087987G>A	(Likely) benign	1 lab	651494bfff
5:178421686 GRM6 G>A	5	178421686	178421686	G	A	GRM6	c.260C>T	NM_000843.4	NP_000834.2:p.(Pro87Leu)	NC_000005.9:g.178421686G>A	VUS	1 lab	651a0bb78d
6:170179283 ERMARD G>A	6	170179283	170179283	G	A	ERMARD	c.1745G>A	NM_018341.2	NP_060811.1:p.(Arg582Lys)	NC_000006.11:g.170179283G>A	(Likely) benign	1 lab	651b554625
7:151265810 PRKAG2 G>A	7	151265810	151265810	G	A	PRKAG2	c.1225C>T	NM_016203.4	NP_057287.2:p.(Gln409Ter)	NC_000007.13:g.151265810G>A	VUS	1 lab	f45b6a165f
20:13765942 NDUFAF5 CCCGCGGGG>C	20	13765942	13765951	CCCGCGGGG	C	NDUFAF5	c.222+8_222+15del	NM_024120.5	NP_077025.2:p.?	NC_000020.10:g.13765944_13765951del	(Likely) benign	1 lab	f45b95977f
1:25611093 RHD A>C	1	25611093	25611093	A	C	RHD	c.178A>C	NM_001282872.1	NP_001269801.1:p.(Ile60Leu)	NC_000001.10:g.25611093A>C	(Likely) benign	1 lab	65208227c2
1:183099559 LAMC1 C>T	1	183099559	183099559	C	T	LAMC1	c.3361C>T	NM_002293.3	NP_002284.3:p.(Arg1121Trp)	NC_000001.10:g.183099559C>T	VUS	1 lab	6521e2f287
11:66466526 SPTBN2 C>T	11	66466526	66466526	C	T	SPTBN2	c.3804G>A	NM_006946.3	NP_008877.1:p.(Gln1268=)	NC_000011.9:g.66466526C>T	(Likely) benign	1 lab	6523bb6c74
11:6644711 DCHS1 G>A	11	6644711	6644711	G	A	DCHS1				NC_000011.9:g.6644711G>A	(Likely) benign	1 lab	7709a693b6
1:66036336 LEPR C>T	1	66036336	66036336	C	T	LEPR	c.221C>T	NM_002303.6	NP_002294.2:p.(Ser74Leu)	NC_000001.10:g.66036336C>T	VUS	1 lab	f46551f860
8:15531315 TUSC3 T>C	8	15531315	15531315	T	C	TUSC3	c.768T>C	NM_001356429.1	NP_001343358.1:p.(Tyr256=)	NC_000008.10:g.15531315T>C	(Likely) benign	1 lab	6526f8bb4d
5:56178587 MAP3K1 A>C	5	56178587	56178587	A	C	MAP3K1	c.3560A>C	NM_005921.1	NP_005912.1:p.(Glu1187Ala)	NC_000005.9:g.56178587A>C	(Likely) benign	1 lab	652714c3a5
2:48018115 MSH6 C>T	2	48018115	48018115	C	T	MSH6	c.310C>T	NM_000179.3	NP_000170.1:p.(Pro104Ser)	NC_000002.11:g.48018115C>T	VUS	1 lab	f4655476e2
16:602374 CAPN15 G>A	16	602374	602374	G	A	CAPN15	c.2581G>A	NM_005632.3	NP_005623.1:p.(Gly861Ser)	NC_000016.9:g.602374G>A	(Likely) benign	1 lab	652a068d0a
3:148939574 CP C>T	3	148939574	148939574	C	T	CP	c.6G>A	NM_000096.3	NP_000087.1:p.(Lys2=)	NC_000003.11:g.148939574C>T	(Likely) benign	1 lab	652c05c883
2:27276293 AGBL5 G>A	2	27276293	27276293	G	A	AGBL5	c.239G>A	NM_021831.5	NP_068603.4:p.(Arg80Gln)	NC_000002.11:g.27276293G>A	VUS	1 lab	652c740cad
17:29562668 NF1 CG>C	17	29562668	29562670	CG	C	NF1	c.3750del	NM_001042492.3	NP_001035957.1:p.(His1251IlefsTer15)	NC_000017.10:g.29562670del	(Likely) pathogenic	1 lab	652eee6ee2
19:55556447 RDH13 T>C	19	55556447	55556447	T	C	RDH13	c.778A>G	NM_138412.3	NP_612421.1:p.(Arg260Gly)	NC_000019.9:g.55556447T>C	(Likely) benign	1 lab	6531158023
X:140994241 MAGEC1 TTGAG>T	X	140994241	140994246	TTGAG	T	MAGEC1	c.1053_1056del	NM_005462.5	NP_005453.2:p.(Ser352PhefsTer34)	NC_000023.10:g.140994243_140994246del	(Likely) benign	1 lab	65320414fc
4:80905990 ANTXR2 C>G	4	80905990	80905990	C	G	ANTXR2	c.1069G>C	NM_058172.6	NP_477520.2:p.(Ala357Pro)	NC_000004.11:g.80905990C>G	(Likely) benign	1 lab	f4672a7fd5
19:49469054 FTL G>C	19	49469054	49469054	G	C	FTL	c.130G>C	NM_000146.3	NP_000137.2:p.(Ala44Pro)	NC_000019.9:g.49469054G>C	VUS	1 lab	653270b197
11:118343590 KMT2A G>T	11	118343590	118343590	G	T	KMT2A	c.1716G>T	NM_001197104.1	NP_001184033.1:p.(Leu572=)	NC_000011.9:g.118343590G>T	(Likely) benign	1 lab	6532b893be
10:124591868 CUZD1 CA>C	10	124591868	124591869	CA	C	CUZD1	c.1749del	NM_022034.6	NP_071317.2:p.(Val584Ter)	NC_000010.10:g.124591869del	VUS	1 lab	653413d30c
22:36681279 MYH9 T>C	22	36681279	36681279	T	C	MYH9	c.5371A>G	NM_002473.6	NP_002464.1:p.(Lys1791Glu)	NC_000022.10:g.36681279T>C	VUS	1 lab	f46bf39206
4:140450313 SETD7 G>A	4	140450313	140450313	G	A	SETD7	c.434C>T	NM_030648.3	NP_085151.1:p.(Ala145Val)	NC_000004.11:g.140450313G>A	VUS	1 lab	653a97bf82
12:133201564 POLE C>T	12	133201564	133201564	C	T	POLE	c.6674G>A	NM_006231.3	NP_006222.2:p.(Arg2225His)	NC_000012.11:g.133201564C>T	(Likely) benign	1 lab	653b0c87d6
18:56202394 ALPK2 C>T	18	56202394	56202394	C	T	ALPK2	c.5025G>A	NM_052947.4	NP_443179.3:p.(Lys1675=)	NC_000018.9:g.56202394C>T	(Likely) benign	1 lab	653b25aae7
1:220325114 RAB3GAP2 T>C	1	220325114	220325114	T	C	RAB3GAP2	c.3868-8A>G	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220325114T>C	(Likely) benign	1 lab	653c0c2503
22:50297990 ALG12 T>TG	22	50297990	50297997	T	TG	ALG12	c.1156dup	NM_024105.3	NP_077010.1:p.(Gln386ProfsTer9)	NC_000022.10:g.50297997dup	(Likely) pathogenic	1 lab	653c5abd99
19:40407946 FCGBP A>G	19	40407946	40407946	A	G	FCGBP	c.4775T>C	NM_003890.2	NP_003881.2:p.(Val1592Ala)	NC_000019.9:g.40407946A>G	VUS	1 lab	653cfb964a
12:53819697 AMHR2 T>G	12	53819697	53819697	T	G	AMHR2	c.846T>G	NM_020547.3	NP_065434.1:p.(His282Gln)	NC_000012.11:g.53819697T>G	(Likely) benign	1 lab	653d2bd80d
1:24125479 GALE C>G	1	24125479	24125479	C	G	GALE	c.19G>C	NM_000403.3	NP_000394.2:p.(Val7Leu)	NC_000001.10:g.24125479C>G	VUS	1 lab	6540d9e3c1
17:29557400 NF1 GGT>G	17	29557400	29557403	GGT	G	NF1	c.3113+2_3113+3del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29557402_29557403del	(Likely) pathogenic	1 lab	6544f76231
6:131190834 EPB41L2 C>G	6	131190834	131190834	C	G	EPB41L2	c.2632G>C	NM_001350299.1	NP_001337228.1:p.(Glu878Gln)	NC_000006.11:g.131190834C>G	VUS	1 lab	6545604156
1:240371994 FMN2 G>A	1	240371994	240371994	G	A	FMN2	c.3894G>A	NM_001305424.1	NP_001292353.1:p.(Lys1298=)	NC_000001.10:g.240371994G>A	(Likely) benign	1 lab	65466e2676
9:712824 KANK1 C>T	9	712824	712824	C	T	KANK1	c.2058C>T	NM_001256877.2	NP_001243806.1:p.(Thr686=)	NC_000009.11:g.712824C>T	(Likely) benign	1 lab	6546a55383
5:140075361 HARS2 C>T	5	140075361	140075361	C	T	HARS2	c.564C>T	NM_012208.3	NP_036340.1:p.(Pro188=)	NC_000005.9:g.140075361C>T	(Likely) benign	1 lab	65487cdbb3
10:49409308 FRMPD2 T>G	10	49409308	49409308	T	G	FRMPD2	c.1917A>C	NM_001018071.4	NP_001018081.4:p.(Ala639=)	NC_000010.10:g.49409308T>G	(Likely) benign	1 lab	6549757a9b
8:100883121 VPS13B A>G	8	100883121	100883121	A	G	VPS13B	c.11570+6A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100883121A>G	(Likely) benign	1 lab	654c4f1228
X:3028295 ARSF T>G	X	3028295	3028295	T	G	ARSF	c.1390+2T>G	NM_001201539.1	NP_001188468.1:p.?	NC_000023.10:g.3028295T>G	VUS	1 lab	7b6afa491b
18:59814273 PIGN T>A	18	59814273	59814273	T	A	PIGN	c.736A>T	NM_176787.4	NP_789744.1:p.(Asn246Tyr)	NC_000018.9:g.59814273T>A	VUS	1 lab	654e10579f
20:62312060 RTEL1 G>A	20	62312060	62312060	G	A	RTEL1	c.1179G>A	NM_001283009.1	NP_001269938.1:p.(Ala393=)	NC_000020.10:g.62312060G>A	(Likely) benign	1 lab	654edd9514
9:35740047 GBA2 C>T	9	35740047	35740047	C	T	GBA2	c.1357G>A	NM_001330660.1	NP_001317589.1:p.(Ala453Thr)	NC_000009.11:g.35740047C>T	(Likely) benign	1 lab	654ff8cf4f
2:238632223 LRRFIP1 C>G	2	238632223	238632223	C	G	LRRFIP1	c.378C>G	NM_001137550.2	NP_001131022.1:p.(Tyr126Ter)	NC_000002.11:g.238632223C>G	VUS	1 lab	6550e322de
X:135427285 ADGRG4 A>C	X	135427285	135427285	A	C	ADGRG4	c.1420A>C	NM_153834.3	NP_722576.3:p.(Ile474Leu)	NC_000023.10:g.135427285A>C	(Likely) benign	1 lab	65515845e2
13:95228586 TGDS C>T	13	95228586	95228586	C	T	TGDS	c.868G>A	NM_001304430.1	NP_001291359.1:p.(Glu290Lys)	NC_000013.10:g.95228586C>T	VUS	1 lab	655376d6da
19:50781385 MYH14 G>T	19	50781385	50781385	G	T	MYH14	c.3871G>T	NM_001145809.1	NP_001139281.1:p.(Val1291Leu)	NC_000019.9:g.50781385G>T	(Likely) benign	1 lab	6554687292
6:117591939 VGLL2 G>A	6	117591939	117591939	G	A	VGLL2	c.625G>A	NM_182645.3	NP_872586.1:p.(Ala209Thr)	NC_000006.11:g.117591939G>A	(Likely) benign	1 lab	6554fd78bd
X:55172630 VCF2 G>A	X	55172630	55172630	G	A	VCF2	c.232C>T	NM_001166703.1	NP_001160175.1:p.(Gln78Ter)	NC_000023.10:g.55172630G>A	(Likely) benign	1 lab	6556983570
2:152534513 NEB C>T	2	152534513	152534513	C	T	NEB	c.3444G>A	NM_001271208.1	NP_001258137.1:p.(Ala1148=)	NC_000002.11:g.152534513C>T	(Likely) benign	1 lab	6557db8190
6:161771154 PRKN C>T	6	161771154	161771154	C	T	PRKN	c.1375G>A	NM_004562.2	NP_004553.2:p.(Gly459Arg)	NC_000006.11:g.161771154C>T	VUS	1 lab	655a9de8f3
17:29546137 NF1 G>T	17	29546137	29546137	G	T	NF1	c.1641+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29546137G>T	(Likely) pathogenic	1 lab	655b133616
2:25013423 PTRHD1 G>C	2	25013423	25013423	G	C	PTRHD1	c.280C>G	NM_001013663.1	NP_001013685.1:p.(Leu94Val)	NC_000002.11:g.25013423G>C	VUS	1 lab	655c045ecb
3:37089117 MLH1 G>C	3	37089117	37089117	G	C	MLH1	c.1839G>C	NM_000249.4	NP_000240.1:p.(Glu613Asp)	NC_000003.11:g.37089117G>C	VUS	1 lab	f46c2bfd83
1:21904012 ALPL C>T	1	21904012	21904012	C	T	ALPL	c.1446C>T	NM_000478.5	NP_000469.3:p.(His482=)	NC_000001.10:g.21904012C>T	(Likely) benign	1 lab	655c35be10
18:34205560 FHOD3 C>T	18	34205560	34205560	C	T	FHOD3	c.1044C>T	NM_001281740.2	NP_001268669.1:p.(Ser348=)	NC_000018.9:g.34205560C>T	(Likely) benign	1 lab	655e79973a
12:46244284 ARID2 A>G	12	46244284	46244284	A	G	ARID2	c.2378A>G	NM_152641.4	NP_689854.2:p.(Gln793Arg)	NC_000012.11:g.46244284A>G	VUS	1 lab	f46e312428
7:2646975 IQCE T>TC	7	2646975	2646978	T	TC	IQCE	c.2086dup	NM_001287499.1	NP_001274428.1:p.(His696ProfsTer66)	NC_000007.13:g.2646978dup	VUS	1 lab	655fe4c431
11:47355103 MYBPC3 C>A	11	47355103	47355103	C	A	MYBPC3	c.3190+5G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355103C>A	VUS	1 lab	f46f7ccb05
7:5352712 TNRC18 C>T	7	5352712	5352712	C	T	TNRC18	c.7810G>A	NM_001080495.2	NP_001073964.2:p.(Ala2604Thr)	NC_000007.13:g.5352712C>T	VUS	1 lab	6560f91e4d
8:100789121 VPS13B G>A	8	100789121	100789121	G	A	VPS13B	c.7441G>A	NM_017890.4	NP_060360.3:p.(Val2481Ile)	NC_000008.10:g.100789121G>A	VUS	1 lab	65623759cb
1:52530583 BTF3L4 T>C	1	52530583	52530583	T	C	BTF3L4	c.141T>C	NM_152265.5	NP_689478.1:p.(Ala47=)	NC_000001.10:g.52530583T>C	(Likely) benign	1 lab	656301d484
2:26696390 OTOF G>T	2	26696390	26696390	G	T	OTOF	c.3454C>A	NM_194248.2	NP_919224.1:p.(Gln1152Lys)	NC_000002.11:g.26696390G>T	VUS	1 lab	6563450a5e
17:48646524 CACNA1G A>G	17	48646524	48646524	A	G	CACNA1G	c.355-2A>G	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48646524A>G	VUS	1 lab	6563696cab
X:70753179 OGT C>G	X	70753179	70753179	C	G	OGT	c.30C>G	NM_181673.2	NP_858059.1:p.(Asp10Glu)	NC_000023.10:g.70753179C>G	VUS	1 lab	656616ee74
21:47855938 PCNT G>A	21	47855938	47855938	G	A	PCNT	c.8873G>A	NM_006031.5	NP_006022.3:p.(Arg2958His)	NC_000021.8:g.47855938G>A	VUS	1 lab	6567161ae8
4:140258023 NAA15 TA>T	4	140258023	140258025	TA	T	NAA15	c.163del	NM_057175.5	NP_476516.1:p.(Thr55HisfsTer2)	NC_000004.11:g.140258025del	(Likely) pathogenic	1 lab	6569212fec
10:97515523 ENTPD1 G>A	10	97515523	97515523	G	A	ENTPD1	c.52G>A	NM_001164178.1	NP_001157650.1:p.(Glu18Lys)	NC_000010.10:g.97515523G>A	(Likely) benign	1 lab	656ad3ae5d
10:105819956 COL17A1 G>A	10	105819956	105819956	G	A	COL17A1	c.1062C>T	NM_000494.4	NP_000485.3:p.(Ala354=)	NC_000010.10:g.105819956G>A	(Likely) benign	1 lab	f470362f1e
1:236912481 ACTN2 G>A	1	236912481	236912481	G	A	ACTN2	c.1573G>A	NM_001103.3	NP_001094.1:p.(Ala525Thr)	NC_000001.10:g.236912481G>A	VUS	1 lab	656b447909
2:135925290 RAB3GAP1 AAAT>A	2	135925290	135925294	AAAT	A	RAB3GAP1	c.2710-823_2710-821del	NM_012233.3	NP_036365.1:p.?	NC_000002.11:g.135925292_135925294del	(Likely) benign	1 lab	656d5fe9dd
4:16020052 PROM1 C>T	4	16020052	16020052	C	T	PROM1	c.869G>A	NM_001145847.1	NP_001139319.1:p.(Arg290Gln)	NC_000004.11:g.16020052C>T	(Likely) benign	1 lab	656f08e65e
2:160609075 MARCHF7 T>C	2	160609075	160609075	T	C	MARCHF7	c.1776T>C	NM_001282805.2	NP_001269734.1:p.(Ile592=)	NC_000002.11:g.160609075T>C	(Likely) benign	1 lab	65708e6084
X:47424531 ARAF C>T	X	47424531	47424531	C	T	ARAF	c.451C>T	NM_001256196.1	NP_001243125.1:p.(Arg151Cys)	NC_000023.10:g.47424531C>T	VUS	1 lab	65716f1983
X:135618355 VGLL1 C>A	X	135618355	135618355	C	A	VGLL1	c.176C>A	NM_016267.3	NP_057351.1:p.(Thr59Asn)	NC_000023.10:g.135618355C>A	(Likely) benign	1 lab	6571707df8
18:60191516 ZCCHC2 C>T	18	60191516	60191516	C	T	ZCCHC2	c.859C>T	NM_017742.5	NP_060212.4:p.(Leu287Phe)	NC_000018.9:g.60191516C>T	VUS	1 lab	65721251f0
X:77258695 ATP7A G>T	X	77258695	77258695	G	T	ATP7A	c.1669G>T	NM_000052.6	NP_000043.4:p.(Glu557Ter)	NC_000023.10:g.77258695G>T	(Likely) pathogenic	1 lab	657506435a
15:49034198 CEP152 C>T	15	49034198	49034198	C	T	CEP152	c.3935G>A	NM_001194998.1	NP_001181927.1:p.(Arg1312His)	NC_000015.9:g.49034198C>T	VUS	1 lab	6576c1ac1c
16:2122371 TSC2 T>G	16	2122371	2122371	T	G	TSC2	c.2220+7T>G	NM_001114382.2	NP_001107854.1:p.?	NC_000016.9:g.2122371T>G	(Likely) benign	1 lab	6576d8e2d8
16:75513655 CHST6 A>G	16	75513655	75513655	A	G	CHST6	c.72T>C	NM_021615.5	NP_067628.1:p.(Phe24=)	NC_000016.9:g.75513655A>G	(Likely) benign	1 lab	6577ef0a8a
16:10788415 TEKT5 C>T	16	10788415	10788415	C	T	TEKT5	c.316G>A	NM_144674.1	NP_653275.1:p.(Glu106Lys)	NC_000016.9:g.10788415C>T	VUS	1 lab	657850c686
8:61763603 CHD7 T>TA	8	61763603	61763604	T	TA	CHD7	c.5548dup	NM_017780.2	NP_060250.2:p.(Arg1850LysfsTer4)	NC_000008.10:g.61763604dup	(Likely) pathogenic	1 lab	6579f7c3a3
7:114563144 MDFIC C>A	7	114563144	114563144	C	A	MDFIC	c.56C>A	NM_001166345.1	NP_001159817.1:p.(Ala19Asp)	NC_000007.13:g.114563144C>A	(Likely) benign	1 lab	657c532b49
X:154194409 F8 T>C	X	154194409	154194409	T	C	F8	c.1279A>G	NM_000132.3	NP_000123.1:p.(Lys427Glu)	NC_000023.10:g.154194409T>C	(Likely) benign	1 lab	657cc2a6db
14:73659541 PSEN1 G>A	14	73659541	73659541	G	A	PSEN1	c.738G>A	NM_000021.3	NP_000012.1:p.(Ala246=)	NC_000014.8:g.73659541G>A	(Likely) benign	1 lab	657e93f0c0
8:61777850 CHD7 C>T	8	61777850	61777850	C	T	CHD7				NC_000008.10:g.61777850C>T	(Likely) benign	1 lab	657ec24879
11:17408675 KCNJ11 C>T	11	17408675	17408675	C	T	KCNJ11	c.964G>A	NM_000525.4	NP_000516.3:p.(Glu322Lys)	NC_000011.9:g.17408675C>T	(Likely) pathogenic	1 lab	f472d0b073
3:97611813 CRYBG3 G>A	3	97611813	97611813	G	A	CRYBG3	c.7550G>A	NM_153605.4	NP_705833.3:p.(Gly2517Glu)	NC_000003.11:g.97611813G>A	VUS	1 lab	657f5ebd23
4:650676 PDE6B ACGACTCCGGGTGG>A	4	650676	650690	ACGACTCCGGGTGG	A	PDE6B	c.1123_1135del	NM_000283.4	NP_000274.3:p.(Asp375SerfsTer43)	NC_000004.11:g.650678_650690del	(Likely) pathogenic	1 lab	6580145ea3
5:37231122 CPLANE1 G>A	5	37231122	37231122	G	A	CPLANE1	c.968C>T	NM_023073.3	NP_075561.3:p.(Thr323Met)	NC_000005.9:g.37231122G>A	VUS	1 lab	65815507f0
14:21770689 RPGRIP1 AG>A	14	21770689	21770691	AG	A	RPGRIP1	c.535del	NM_020366.4	NP_065099.3:p.(Glu179SerfsTer11)	NC_000014.8:g.21770691del	(Likely) pathogenic	1 lab	6582380e13
1:179363155 AXDND1 G>C	1	179363155	179363155	G	C	AXDND1	c.981G>C	NM_144696.5	NP_653297.3:p.(Lys327Asn)	NC_000001.10:g.179363155G>C	VUS	1 lab	6582a7d2dc
7:72413037 POM121 G>A	7	72413037	72413037	G	A	POM121	c.1710G>A	NM_001257190.2	NP_001244119.1:p.(Ala570=)	NC_000007.13:g.72413037G>A	(Likely) benign	1 lab	658489211a
17:41244817 BRCA1 CTTGA>C	17	41244817	41244823	CTTGA	C	BRCA1	c.2727_2730del	NM_007294.4	NP_009225.1:p.(Asn909LysfsTer90)	NC_000017.10:g.41244820_41244823del	(Likely) pathogenic	1 lab	6584a7717d
9:71831345 TJP2 G>A	9	71831345	71831345	G	A	TJP2	c.205G>A	NM_004817.4	NP_004808.2:p.(Val69Met)	NC_000009.11:g.71831345G>A	VUS	1 lab	6586d8d5f9
16:51175084 SALL1 G>T	16	51175084	51175084	G	T	SALL1	c.758C>A	NM_001127892.1	NP_001121364.1:p.(Thr253Asn)	NC_000016.9:g.51175084G>T	VUS	1 lab	6587c498f6
17:29664834 NF1 TA>T	17	29664834	29664835	TA	T	NF1	c.6643-2del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29664835del	(Likely) pathogenic	1 lab	6588fcb400
2:220404229 CHPF G>A	2	220404229	220404229	G	A	CHPF	c.2204C>T	NM_024536.6	NP_078812.3:p.(Thr735Met)	NC_000002.11:g.220404229G>A	(Likely) benign	1 lab	658a1dd4f3
17:18023380 MYO15A C>A	17	18023380	18023380	C	A	MYO15A	c.1266C>A	NM_016239.3	NP_057323.3:p.(His422Gln)	NC_000017.10:g.18023380C>A	VUS	1 lab	658af11a32
3:9959725 IL17RC C>G	3	9959725	9959725	C	G	IL17RC	c.459C>G	NM_153461.3	NP_703191.1:p.(Leu153=)	NC_000003.11:g.9959725C>G	(Likely) benign	1 lab	658c587cbf
17:29587500 NF1 A>G	17	29587500	29587500	A	G	NF1	c.4481A>G	NM_000267.3	NP_000258.1:p.(Gln1494Arg)	NC_000017.10:g.29587500A>G	(Likely) pathogenic	1 lab	658cb8a954
7:21604072 DNAH11 C>T	7	21604072	21604072	C	T	DNAH11				NC_000007.13:g.21604072C>T	(Likely) benign	1 lab	658fc3a66c
8:90958439 NBN A>G	8	90958439	90958439	A	G	NBN	c.1999T>C	NM_002485.4	NP_002476.2:p.(Ser667Pro)	NC_000008.10:g.90958439A>G	(Likely) benign	1 lab	658fdd87c1
1:248059810 OR2W3 AAG>A	1	248059810	248059818	AAG	A	OR2W3	c.929_930del	NM_001001957.2	NP_001001957.2:p.(Glu310AlafsTer?)	NC_000001.10:g.248059817_248059818del	(Likely) pathogenic	1 lab	658fe811a8
1:27120626 PIGV C>T	1	27120626	27120626	C	T	PIGV	c.101C>T	NM_001202554.1	NP_001189483.1:p.(Pro34Leu)	NC_000001.10:g.27120626C>T	VUS	1 lab	6592aa8475
20:2413271 TGM6 T>C	20	2413271	2413271	T	C	TGM6	c.2103T>C	NM_198994.2	NP_945345.2:p.(His701=)	NC_000020.10:g.2413271T>C	(Likely) benign	1 lab	6592e0caac
10:73545428 CDH23 G>A	10	73545428	73545428	G	A	CDH23	c.5753G>A	NM_022124.5	NP_071407.4:p.(Arg1918Gln)	NC_000010.10:g.73545428G>A	VUS	1 lab	6592ea5f4e
7:43906417 MRPS24 G>C	7	43906417	43906417	G	C	MRPS24	c.385C>G	NM_032014.3	NP_114403.1:p.(Pro129Ala)	NC_000007.13:g.43906417G>C	(Likely) benign	1 lab	65932f6bf4
2:179597980 TTN G>A	2	179597980	179597980	G	A	TTN	c.16040C>T	NM_001267550.2	NP_001254479.2:p.(Thr5347Ile)	NC_000002.11:g.179597980G>A	VUS	1 lab	f473707f5a
8:133146627 KCNQ3 A>G	8	133146627	133146627	A	G	KCNQ3	c.1709T>C	NM_004519.4	NP_004510.1:p.(Met570Thr)	NC_000008.10:g.133146627A>G	VUS	1 lab	f473bdf9c8
15:57545564 TCF12 T>TA	15	57545564	57545565	T	TA	TCF12	c.1366dup	NM_207037.1	NP_996920.1:p.(Ile456AsnfsTer3)	NC_000015.9:g.57545565dup	(Likely) pathogenic	1 lab	659680f45a
7:103179743 RELN G>A	7	103179743	103179743	G	A	RELN	c.6962C>T	NM_173054.2	NP_774959.1:p.(Thr2321Met)	NC_000007.13:g.103179743G>A	VUS	1 lab	6599c9992e
7:97823816 LMTK2 G>A	7	97823816	97823816	G	A	LMTK2	c.4039G>A	NM_014916.3	NP_055731.2:p.(Glu1347Lys)	NC_000007.13:g.97823816G>A	(Likely) benign	1 lab	659f6a9e81
9:139326368 INPP5E C>T	9	139326368	139326368	C	T	INPP5E	c.1457G>A	NM_019892.5	NP_063945.2:p.(Arg486His)	NC_000009.11:g.139326368C>T	VUS	1 lab	65a134e8a3
2:234676986 UGT1A1 A>C	2	234676986	234676986	A	C	UGT1A1	c.1205A>C	NM_000463.2	NP_000454.1:p.(Lys402Thr)	NC_000002.11:g.234676986A>C	(Likely) pathogenic	1 lab	65a24053cc
19:33878262 PEPD A>G	19	33878262	33878262	A	G	PEPD	c.1470T>C	NM_000285.3	NP_000276.2:p.(Ser490=)	NC_000019.9:g.33878262A>G	(Likely) benign	1 lab	65a43ab907
X:37545271 XK G>C	X	37545271	37545271	G	C	XK	c.57G>C	NM_021083.4	NP_066569.1:p.(Thr19=)	NC_000023.10:g.37545271G>C	(Likely) benign	1 lab	65a491b1f1
12:7842561 GDF3 G>A	12	7842561	7842561	G	A	GDF3	c.1008C>T	NM_020634.2	NP_065685.1:p.(Pro336=)	NC_000012.11:g.7842561G>A	(Likely) benign	1 lab	65a60070a7
5:177168281 FAM153A C>T	5	177168281	177168281	C	T	FAM153A	c.186G>A	NM_173663.4	NP_775934.3:p.(Ser62=)	NC_000005.9:g.177168281C>T	(Likely) benign	1 lab	65a632702d
15:32743191 GOLGA8O G>A	15	32743191	32743191	G	A	GOLGA8O	c.514C>T	NM_001277308.1	NP_001264237.1:p.(His172Tyr)	NC_000015.9:g.32743191G>A	(Likely) benign	1 lab	65a68ea235
21:46923935 COL18A1 G>A	21	46923935	46923935	G	A	COL18A1	c.3939G>A	NM_130444.3	NP_569711.2:p.(Pro1313=)	NC_000021.8:g.46923935G>A	(Likely) benign	1 lab	65a8545bae
15:43672277 TUBGCP4 C>T	15	43672277	43672277	C	T	TUBGCP4	c.442-5C>T	NM_001286414.2	NP_001273343.1:p.?	NC_000015.9:g.43672277C>T	(Likely) benign	1 lab	65acffcdeb
6:12292676 EDN1 C>T	6	12292676	12292676	C	T	EDN1	c.167C>T	NM_001955.4	NP_001946.3:p.(Ser56Leu)	NC_000006.11:g.12292676C>T	VUS	1 lab	65ad5a688a
3:195594241 TNK2 C>G	3	195594241	195594241	C	G	TNK2	c.2883G>C	NM_005781.4	NP_005772.3:p.(Lys961Asn)	NC_000003.11:g.195594241C>G	(Likely) benign	1 lab	65ad979ad5
21:47850019 PCNT C>CAGA	21	47850019	47850024	C	CAGA	PCNT	c.7789_7791dup	NM_006031.6	NP_006022.3:p.(Lys2597dup)	NC_000021.8:g.47850022_47850024dup	VUS	1 lab	f475e42dbe
1:198608401 PTPRC G>T	1	198608401	198608401	G	T	PTPRC	c.3G>T	NM_002838.4	NP_002829.3:p.(Met1?)	NC_000001.10:g.198608401G>T	(Likely) pathogenic	1 lab	65b4921ddb
8:48790309 PRKDC G>T	8	48790309	48790309	G	T	PRKDC	c.5339C>A	NM_006904.6	NP_008835.5:p.(Ser1780Tyr)	NC_000008.10:g.48790309G>T	VUS	1 lab	65b5e1173c
1:53675847 CPT2 GGC>G	1	53675847	53675849	GGC	G	CPT2	c.502_503del	NM_000098.3	NP_000089.1:p.(Ala168TrpfsTer16)	NC_000001.10:g.53675848_53675849del	(Likely) pathogenic	1 lab	65b60a21b8
6:87966300 ZNF292 G>C	6	87966300	87966300	G	C	ZNF292	c.2533G>C	NM_001351444.1	NP_001338373.1:p.(Gly845Arg)	NC_000006.11:g.87966300G>C	(Likely) benign	1 lab	65b89dc550
X:69640048 KIF4A A>G	X	69640048	69640048	A	G	KIF4A	c.3632A>G	NM_012310.4	NP_036442.3:p.(Lys1211Arg)	NC_000023.10:g.69640048A>G	VUS	1 lab	65b8c71027
19:13318664 CACNA1A GGCCACC>G	19	13318664	13318673	GGCCACC	G	CACNA1A	c.6978_6983del	NM_001127222.2	NP_001120694.1:p.(Val2327_Ala2328del)	NC_000019.9:g.13318668_13318673del	(Likely) benign	1 lab	65ba16df31
9:123290210 CDK5RAP2 T>C	9	123290210	123290210	T	C	CDK5RAP2	c.880-7A>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123290210T>C	(Likely) benign	1 lab	65bc461f72
16:27751510 KATNIP A>G	16	27751510	27751510	A	G	KATNIP	c.1892A>G	NM_015202.3	NP_056017.3:p.(Glu631Gly)	NC_000016.9:g.27751510A>G	VUS	1 lab	65bc49940c
6:32407709 HLA-DRA C>A	6	32407709	32407709	C	A	HLA-DRA	c.-19C>A	NM_019111.5	NP_061984.2:p.?	NC_000006.11:g.32407709C>A	(Likely) benign	1 lab	f47e619fda
11:92086741 FAT3 G>A	11	92086741	92086741	G	A	FAT3				NC_000011.9:g.92086741G>A	VUS	1 lab	65bcb6c425
22:23915545 IGLL1 C>T	22	23915545	23915545	C	T	IGLL1				NC_000022.10:g.23915545C>T	(Likely) benign	1 lab	65bd37b9ca
2:179484743 TTN C>A	2	179484743	179484743	C	A	TTN	c.46401G>T	NM_001267550.1	NP_001254479.1:p.(Arg15467Ser)	NC_000002.11:g.179484743C>A	VUS	1 lab	65bd556f00
9:96055064 WNK2 G>A	9	96055064	96055064	G	A	WNK2	c.5428G>A	NM_001282394.1	NP_001269323.1:p.(Val1810Ile)	NC_000009.11:g.96055064G>A	VUS	1 lab	65bfc3b684
12:53701621 AAAS G>A	12	53701621	53701621	G	A	AAAS	c.1416+8C>T	NM_015665.5	NP_056480.1:p.?	NC_000012.11:g.53701621G>A	(Likely) benign	1 lab	65c0918f8f
X:53250047 KDM5C G>A	X	53250047	53250047	G	A	KDM5C	c.202C>T	NM_004187.3	NP_004178.2:p.(Arg68Ter)	NC_000023.10:g.53250047G>A	(Likely) pathogenic	1 lab	65c1037481
9:139910167 ABCA2 C>T	9	139910167	139910167	C	T	ABCA2	c.3564G>A	NM_212533.2	NP_997698.1:p.(Ala1188=)	NC_000009.11:g.139910167C>T	(Likely) benign	1 lab	65c4c83221
19:17885062 FCHO1 G>A	19	17885062	17885062	G	A	FCHO1	c.805G>A	NM_001161357.1	NP_001154829.1:p.(Glu269Lys)	NC_000019.9:g.17885062G>A	VUS	1 lab	65c6743181
11:803260 PIDD1 G>A	11	803260	803260	G	A	PIDD1	c.623C>T	NM_145886.4	NP_665893.2:p.(Thr208Met)	NC_000011.9:g.803260G>A	VUS	1 lab	f47f116853
17:78182013 CARD14 C>T	17	78182013	78182013	C	T	CARD14	c.2884C>T	NM_024110.4	NP_077015.2:p.(Arg962Trp)	NC_000017.10:g.78182013C>T	VUS	1 lab	65c839408b
9:139841140 C8G C>T	9	139841140	139841140	C	T	C8G	c.594C>T	NM_000606.3	NP_000597.2:p.(Asp198=)	NC_000009.11:g.139841140C>T	(Likely) benign	1 lab	65ca89ad6c
20:39977385 LPIN3 A>C	20	39977385	39977385	A	C	LPIN3	c.415A>C	NM_001301860.1	NP_001288789.1:p.(Thr139Pro)	NC_000020.10:g.39977385A>C	(Likely) benign	1 lab	65cccc0569
1:235897775 LYST T>C	1	235897775	235897775	T	C	LYST	c.8535+8A>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235897775T>C	(Likely) benign	1 lab	65ccdbec09
X:26157290 MAGEB18 C>T	X	26157290	26157290	C	T	MAGEB18	c.188C>T	NM_173699.3	NP_775970.1:p.(Ala63Val)	NC_000023.10:g.26157290C>T	(Likely) benign	1 lab	65ccdfa8c9
19:3976669 EEF2 C>G	19	3976669	3976669	C	G	EEF2	c.2460G>C	NM_001961.3	NP_001952.1:p.(Leu820=)	NC_000019.9:g.3976669C>G	(Likely) benign	1 lab	65ce6cece4
22:18901014 PRODH C>T	22	18901014	18901014	C	T	PRODH	c.1552G>A	NM_016335.4	NP_057419.4:p.(Ala518Thr)	NC_000022.10:g.18901014C>T	(Likely) benign	1 lab	65d02e3e84
19:13321421 CACNA1A C>G	19	13321421	13321421	C	G	CACNA1A	c.6357+10G>C	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13321421C>G	(Likely) benign	1 lab	65d0437d42
X:106224646 MORC4 C>A	X	106224646	106224646	C	A	MORC4	c.736G>T	NM_024657.5	NP_078933.3:p.(Asp246Tyr)	NC_000023.10:g.106224646C>A	VUS	1 lab	65d0f4f50d
6:33152768 COL11A2 C>T	6	33152768	33152768	C	T	COL11A2	c.939+1G>A	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33152768C>T	(Likely) pathogenic	1 lab	f4854ddedf
X:84310863 APOOL G>A	X	84310863	84310863	G	A	APOOL	c.326G>A	NM_198450.5	NP_940852.3:p.(Arg109Gln)	NC_000023.10:g.84310863G>A	(Likely) benign	1 lab	65d250833c
18:25573509 CDH2 T>G	18	25573509	25573509	T	G	CDH2	c.1113A>C	NM_001792.4	NP_001783.2:p.(Thr371=)	NC_000018.9:g.25573509T>G	(Likely) benign	1 lab	65d39fed11
3:15686085 BTD G>A	3	15686085	15686085	G	A	BTD	c.722G>A	NM_000060.4	NP_000051.1:p.(Gly241Asp)	NC_000003.11:g.15686085G>A	VUS	1 lab	65d5fc6ec1
2:98355925 ZAP70 A>AG	2	98355925	98355927	A	AG	ZAP70	c.1826dup	NM_001079.4	NP_001070.2:p.(Ser610GlnfsTer6)	NC_000002.11:g.98355927dup	VUS	1 lab	f4889f47a1
X:69458211 AWAT1 G>A	X	69458211	69458211	G	A	AWAT1	c.610G>A	NM_001013579.2	NP_001013597.1:p.(Val204Met)	NC_000023.10:g.69458211G>A	VUS	1 lab	65d8357676
2:16082939 MYCN C>T	2	16082939	16082939	C	T	MYCN	c.753C>T	NM_005378.5	NP_005369.2:p.(Ala251=)	NC_000002.11:g.16082939C>T	(Likely) benign	1 lab	65d8c8bb5b
11:103048467 DYNC2H1 A>G	11	103048467	103048467	A	G	DYNC2H1	c.6057A>G	NM_001080463.1	NP_001073932.1:p.(Leu2019=)	NC_000011.9:g.103048467A>G	(Likely) benign	1 lab	65da3706c5
21:47809236 PCNT A>G	21	47809236	47809236	A	G	PCNT	c.3730A>G	NM_006031.5	NP_006022.3:p.(Met1244Val)	NC_000021.8:g.47809236A>G	(Likely) benign	1 lab	65db232d90
17:29657368 NF1 C>T	17	29657368	29657368	C	T	NF1	c.5601C>T	NM_000267.3	NP_000258.1:p.(Ile1867=)	NC_000017.10:g.29657368C>T	(Likely) benign	1 lab	65dc7f9246
8:139601592 COL22A1 G>A	8	139601592	139601592	G	A	COL22A1	c.4785C>T	NM_152888.2	NP_690848.1:p.(Leu1595=)	NC_000008.10:g.139601592G>A	(Likely) benign	1 lab	65dcca361d
9:117786265 TNC T>C	9	117786265	117786265	T	C	TNC	c.6482A>G	NM_002160.3	NP_002151.2:p.(Asn2161Ser)	NC_000009.11:g.117786265T>C	(Likely) benign	1 lab	65dd2eb73e
2:21231801 APOB T>G	2	21231801	21231801	T	G	APOB	c.7939A>C	NM_000384.2	NP_000375.2:p.(Thr2647Pro)	NC_000002.11:g.21231801T>G	VUS	1 lab	65df2ae55f
7:150174276 GIMAP8 G>A	7	150174276	150174276	G	A	GIMAP8	c.1406G>A	NM_175571.4	NP_783161.1:p.(Arg469Gln)	NC_000007.13:g.150174276G>A	VUS	1 lab	65e0a18833
X:105449846 PWWP3B T>C	X	105449846	105449846	T	C	PWWP3B	c.421T>C	NM_152423.4	NP_689636.3:p.(Leu141=)	NC_000023.10:g.105449846T>C	(Likely) benign	1 lab	65e236ab26
16:15815495 MYH11 C>T	16	15815495	15815495	C	T	MYH11	c.4387-4G>A	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15815495C>T	(Likely) benign	1 lab	65e25370e7
X:47747509 ZNF81 C>T	X	47747509	47747509	C	T	ZNF81	c.166C>T	NM_007137.3	NP_009068.2:p.(His56Tyr)	NC_000023.10:g.47747509C>T	VUS	1 lab	65e2ff7b24
19:46057057 OPA3 G>A	19	46057057	46057057	G	A	OPA3	c.255C>T	NM_025136.3	NP_079412.1:p.(Gly85=)	NC_000019.9:g.46057057G>A	(Likely) benign	1 lab	65e442066b
17:78078570 GAA G>GACCAGGGCCCC	17	78078570	78078581	G	GACCAGGGCCCC	GAA	c.186_196dup	NM_000152.3	NP_000143.2:p.(Arg66HisfsTer80)	NC_000017.10:g.78078571_78078581dup	(Likely) pathogenic	1 lab	65e4ce5365
12:57602494 LRP1 G>C	12	57602494	57602494	G	C	LRP1	c.12039G>C	NM_002332.2	NP_002323.2:p.(Gly4013=)	NC_000012.11:g.57602494G>C	(Likely) benign	1 lab	65e629a13e
9:133960931 LAMC3 CG>C	9	133960931	133960933	CG	C	LAMC3	c.4053del	NM_006059.4	NP_006050.3:p.(Lys1353ArgfsTer64)	NC_000009.11:g.133960933del	VUS	1 lab	65e6a99b23
14:51206068 NIN C>T	14	51206068	51206068	C	T	NIN	c.5586G>A	NM_020921.3	NP_065972.3:p.(Met1862Ile)	NC_000014.8:g.51206068C>T	(Likely) benign	1 lab	65e73d6267
5:13701398 DNAH5 G>A	5	13701398	13701398	G	A	DNAH5	c.13486C>T	NM_001369.2	NP_001360.1:p.(Arg4496Ter)	NC_000005.9:g.13701398G>A	(Likely) pathogenic	1 lab	65e8723fc6
X:138643835 F9 G>A	X	138643835	138643835	G	A	F9	c.991G>A	NM_000133.3	NP_000124.1:p.(Val331Ile)	NC_000023.10:g.138643835G>A	VUS	1 lab	65e93fab69
4:41263790 UCHL1 CAG>C	4	41263790	41263794	CAG	C	UCHL1	c.387_388del	NM_004181.5	NP_004172.2:p.(Arg129SerfsTer5)	NC_000004.11:g.41263793_41263794del	VUS	1 lab	65ea975f86
15:77321924 PSTPIP1 G>A	15	77321924	77321924	G	A	PSTPIP1	c.535+9G>A	NM_001321136.1	NP_001308065.1:p.?	NC_000015.9:g.77321924G>A	(Likely) benign	1 lab	65efac6436
2:136602196 MCM6 G>A	2	136602196	136602196	G	A	MCM6	c.2268C>T	NM_005915.5	NP_005906.2:p.(Ile756=)	NC_000002.11:g.136602196G>A	(Likely) benign	1 lab	65f2038961
10:50724720 ERCC6 T>C	10	50724720	50724720	T	C	ERCC6	c.1845A>G	NM_001277058.1	NP_001263987.1:p.(Glu615=)	NC_000010.10:g.50724720T>C	(Likely) benign	1 lab	65f347ff94
3:164781312 SI G>A	3	164781312	164781312	G	A	SI	c.825C>T	NM_001041.3	NP_001032.2:p.(Tyr275=)	NC_000003.11:g.164781312G>A	(Likely) benign	1 lab	65f3edf3d0
5:150931085 FAT2 C>G	5	150931085	150931085	C	G	FAT2	c.4239G>C	NM_001447.2	NP_001438.1:p.(Arg1413Ser)	NC_000005.9:g.150931085C>G	(Likely) benign	1 lab	65f419a84c
9:140094890 TPRN G>A	9	140094890	140094890	G	A	TPRN	c.274C>T	NM_001128228.3	NP_001121700.2:p.(Leu92Phe)	NC_000009.11:g.140094890G>A	VUS	1 lab	65f42fcf8c
2:32640782 BIRC6 A>G	2	32640782	32640782	A	G	BIRC6	c.2423A>G	NM_016252.3	NP_057336.3:p.(Gln808Arg)	NC_000002.11:g.32640782A>G	(Likely) benign	1 lab	65f45d830d
7:128477264 FLNC G>A	7	128477264	128477264	G	A	FLNC	c.652G>A	NM_001458.5	NP_001449.3:p.(Ala218Thr)	NC_000007.13:g.128477264G>A	VUS	1 lab	f4937b00b6
2:121744037 GLI2 G>A	2	121744037	121744037	G	A	GLI2	c.2140G>A	NM_005270.4	NP_005261.2:p.(Ala714Thr)	NC_000002.11:g.121744037G>A	(Likely) benign	1 lab	65f5d117db
X:70346956 MED12 G>A	X	70346956	70346956	G	A	MED12	c.2823G>A	NM_005120.2	NP_005111.2:p.(Gln941=)	NC_000023.10:g.70346956G>A	(Likely) benign	1 lab	65f84dd649
X:77276577 ATP7A G>A	X	77276577	77276577	G	A	ATP7A	c.2916+1G>A	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77276577G>A	(Likely) pathogenic	1 lab	65f8614bd6
9:35077292 FANCG A>C	9	35077292	35077292	A	C	FANCG	c.615T>G	NM_004629.1	NP_004620.1:p.(Asp205Glu)	NC_000009.11:g.35077292A>C	(Likely) benign	1 lab	65f8ef6ab8
17:78083763 GAA C>T	17	78083763	78083763	C	T	GAA	c.1346C>T	NM_000152.5	NP_000143.2:p.(Ser449Leu)	NC_000017.10:g.78083763C>T	VUS	1 lab	f494aba21d
1:9780224 PIK3CD C>T	1	9780224	9780224	C	T	PIK3CD	c.1394C>T	NM_005026.3	NP_005017.3:p.(Thr465Met)	NC_000001.10:g.9780224C>T	VUS	1 lab	65fb5ee5c3
17:29556877 NF1 C>T	17	29556877	29556877	C	T	NF1	c.2875C>T	NM_000267.3	NP_000258.1:p.(Gln959Ter)	NC_000017.10:g.29556877C>T	(Likely) pathogenic	1 lab	65fc498934
18:77440244 CTDP1 C>A	18	77440244	77440244	C	A	CTDP1	c.297C>A	NM_004715.4	NP_004706.3:p.(Gly99=)	NC_000018.9:g.77440244C>A	(Likely) benign	1 lab	65fd6dbeba
7:100279363 GIGYF1 G>C	7	100279363	100279363	G	C	GIGYF1	c.3087C>G	NM_022574.5	NP_072096.2:p.(Ile1029Met)	NC_000007.13:g.100279363G>C	(Likely) benign	1 lab	65fdc6fa92
18:44087535 LOXHD1 G>A	18	44087535	44087535	G	A	LOXHD1	c.5472C>T	NM_144612.6	NP_653213.6:p.(Ser1824=)	NC_000018.9:g.44087535G>A	(Likely) benign	1 lab	65ff30cf7d
10:95405723 PDE6C G>A	10	95405723	95405723	G	A	PDE6C	c.1854G>A	NM_006204.3	NP_006195.3:p.(Thr618=)	NC_000010.10:g.95405723G>A	(Likely) benign	1 lab	660049e14a
21:43805611 TMPRSS3 G>A	21	43805611	43805611	G	A	TMPRSS3	c.479C>T	NM_024022.2	NP_076927.1:p.(Ser160Leu)	NC_000021.8:g.43805611G>A	(Likely) benign	1 lab	6604bec63a
19:8612946 MYO1F T>C	19	8612946	8612946	T	C	MYO1F	c.1243A>G	NM_012335.3	NP_036467.2:p.(Ile415Val)	NC_000019.9:g.8612946T>C	VUS	1 lab	6604c8980c
17:36491470 GPR179 G>A	17	36491470	36491470	G	A	GPR179	c.1406+4C>T	NM_001004334.3	NP_001004334.3:p.?	NC_000017.10:g.36491470G>A	(Likely) benign	1 lab	66060b3597
3:46021299 FYCO1 G>A	3	46021299	46021299	G	A	FYCO1	c.186C>T	NM_024513.3	NP_078789.2:p.(Thr62=)	NC_000003.11:g.46021299G>A	(Likely) benign	1 lab	66083b3e10
3:14180697 TMEM43 A>G	3	14180697	14180697	A	G	TMEM43	c.900A>G	NM_024334.2	NP_077310.1:p.(Glu300=)	NC_000003.11:g.14180697A>G	(Likely) benign	1 lab	6608a8348c
22:38120043 TRIOBP A>G	22	38120043	38120043	A	G	TRIOBP	c.1480A>G	NM_001039141.2	NP_001034230.1:p.(Arg494Gly)	NC_000022.10:g.38120043A>G	VUS	1 lab	660a2c7bb7
14:31346836 COCH T>C	14	31346836	31346836	T	C	COCH	c.336T>C	NM_001347720.1	NP_001334649.1:p.(Asp112=)	NC_000014.8:g.31346836T>C	(Likely) benign	1 lab	660aec7cd5
4:183673045 TENM3 C>T	4	183673045	183673045	C	T	TENM3	c.3722C>T	NM_001080477.3	NP_001073946.1:p.(Pro1241Leu)	NC_000004.11:g.183673045C>T	VUS	1 lab	660e90ee39
10:102750650 TWNK C>T	10	102750650	102750650	C	T	TWNK	c.1617C>T	NM_001163812.1	NP_001157284.1:p.(Ile539=)	NC_000010.10:g.102750650C>T	(Likely) benign	1 lab	660e9ab140
17:63149617 RGS9 C>T	17	63149617	63149617	C	T	RGS9	c.135C>T	NM_003835.3	NP_003826.2:p.(Ser45=)	NC_000017.10:g.63149617C>T	(Likely) benign	1 lab	660fc968b7
3:23960788 RPL15 A>G	3	23960788	23960788	A	G	RPL15	c.411A>G	NM_001253379.2	NP_001240308.1:p.(Pro137=)	NC_000003.11:g.23960788A>G	(Likely) benign	1 lab	66100d8e49
10:28824618 WAC A>G	10	28824618	28824618	A	G	WAC	c.71A>G	NM_100264.2	NP_567822.1:p.(Tyr24Cys)	NC_000010.10:g.28824618A>G	VUS	1 lab	66111bef21
8:11666242 FDFT1 CTCCCA>C	8	11666242	11666247	CTCCCA	C	FDFT1	c.100-60_100-56del	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666243_11666247del	(Likely) benign	1 lab	6611d5c99f
11:76877119 MYO7A C>T	11	76877119	76877119	C	T	MYO7A	c.1708C>T	NM_000260.3	NP_000251.3:p.(Arg570Ter)	NC_000011.9:g.76877119C>T	(Likely) pathogenic	1 lab	6612afdf3c
11:64853957 ZFPL1 T>C	11	64853957	64853957	T	C	ZFPL1	c.285T>C	NM_006782.4	NP_006773.2:p.(Tyr95=)	NC_000011.9:g.64853957T>C	(Likely) benign	1 lab	661346ca3e
11:2436202 TRPM5 G>A	11	2436202	2436202	G	A	TRPM5	c.1555C>T	NM_014555.3	NP_055370.1:p.(Arg519Trp)	NC_000011.9:g.2436202G>A	VUS	1 lab	6613d1cf2b
14:58955360 KIAA0586 T>C	14	58955360	58955360	T	C	KIAA0586	c.3549T>C	NM_001329943.2	NP_001316872.1:p.(Asp1183=)	NC_000014.8:g.58955360T>C	(Likely) benign	1 lab	6614ee714b
X:66937373 AR A>G	X	66937373	66937373	A	G	AR	c.2227A>G	NM_000044.4	NP_000035.2:p.(Met743Val)	NC_000023.10:g.66937373A>G	(Likely) pathogenic	1 lab	6617c3d25c
18:76754327 SALL3 T>G	18	76754327	76754327	T	G	SALL3	c.2336T>G	NM_171999.3	NP_741996.2:p.(Met779Arg)	NC_000018.9:g.76754327T>G	VUS	1 lab	66181c6227
1:152280504 FLG G>A	1	152280504	152280504	G	A	FLG	c.6858C>T	NM_002016.1	NP_002007.1:p.(His2286=)	NC_000001.10:g.152280504G>A	(Likely) benign	1 lab	661946199f
1:216538336 USH2A T>A	1	216538336	216538336	T	A	USH2A	c.743A>T	NM_206933.2	NP_996816.2:p.(Asp248Val)	NC_000001.10:g.216538336T>A	VUS	1 lab	6619ff9475
1:197098326 ASPM G>A	1	197098326	197098326	G	A	ASPM	c.2751C>T	NM_018136.4	NP_060606.3:p.(Ala917=)	NC_000001.10:g.197098326G>A	(Likely) benign	1 lab	661ae19e3b
10:73558236 CDH23 G>A	10	73558236	73558236	G	A	CDH23	c.6955G>A	NM_022124.5	NP_071407.4:p.(Ala2319Thr)	NC_000010.10:g.73558236G>A	(Likely) benign	1 lab	661b9f414d
16:16297381 ABCC6 TG>T	16	16297381	16297383	TG	T	ABCC6	c.883del	NM_001171.6	NP_001162.5:p.(Gln295SerfsTer6)	NC_000016.9:g.16297383del	(Likely) pathogenic	1 lab	661d179e2b
X:70597568 TAF1 A>T	X	70597568	70597568	A	T	TAF1	c.890A>T	NM_001286074.1	NP_001273003.1:p.(Gln297Leu)	NC_000023.10:g.70597568A>T	(Likely) benign	1 lab	661d471f92
16:4383479 GLIS2 C>T	16	4383479	4383479	C	T	GLIS2	c.304C>T	NM_001318918.1	NP_001305847.1:p.(Arg102Cys)	NC_000016.9:g.4383479C>T	(Likely) benign	1 lab	661de1f254
17:29653029 NF1 CA>C	17	29653029	29653030	CA	C	NF1	c.5028del	NM_001042492.3	NP_001035957.1:p.(Val1677SerfsTer21)	NC_000017.10:g.29653030del	(Likely) pathogenic	1 lab	66207f6434
19:38573025 SIPA1L3 C>G	19	38573025	38573025	C	G	SIPA1L3	c.820C>G	NM_015073.2	NP_055888.1:p.(Leu274Val)	NC_000019.9:g.38573025C>G	(Likely) benign	1 lab	6622f324f5
2:179428879 TTN G>T	2	179428879	179428879	G	T	TTN	c.81980C>A	NM_001267550.1	NP_001254479.1:p.(Ser27327Tyr)	NC_000002.11:g.179428879G>T	VUS	1 lab	66247d8350
3:128624978 ACAD9 G>A	3	128624978	128624978	G	A	ACAD9	c.1164G>A	NM_014049.4	NP_054768.2:p.(Glu388=)	NC_000003.11:g.128624978G>A	(Likely) benign	1 lab	662500d0c3
2:239051534 KLHL30 C>A	2	239051534	239051534	C	A	KLHL30	c.869C>A	NM_198582.4	NP_940984.3:p.(Pro290His)	NC_000002.11:g.239051534C>A	(Likely) benign	1 lab	66256306e3
X:69639610 KIF4A G>A	X	69639610	69639610	G	A	KIF4A	c.3472G>A	NM_012310.4	NP_036442.3:p.(Val1158Ile)	NC_000023.10:g.69639610G>A	(Likely) benign	1 lab	662564c0c2
2:179528420 TTN C>G	2	179528420	179528420	C	G	TTN	c.36466G>C	NM_001267550.1	NP_001254479.1:p.(Glu12156Gln)	NC_000002.11:g.179528420C>G	VUS	1 lab	6625789753
6:158589162 SERAC1 C>T	6	158589162	158589162	C	T	SERAC1	c.-2+10G>A	NM_032861.3	NP_116250.3:p.?	NC_000006.11:g.158589162C>T	(Likely) benign	1 lab	6625b4d5f7
5:13882858 DNAH5 T>C	5	13882858	13882858	T	C	DNAH5	c.3241A>G	NM_001369.2	NP_001360.1:p.(Met1081Val)	NC_000005.9:g.13882858T>C	(Likely) benign	1 lab	6626240685
3:184023591 PSMD2 A>T	3	184023591	184023591	A	T	PSMD2	c.1575A>T	NM_002808.5	NP_002799.3:p.(Ile525=)	NC_000003.11:g.184023591A>T	(Likely) benign	1 lab	662a43956e
19:38573333 SIPA1L3 C>T	19	38573333	38573333	C	T	SIPA1L3	c.1128C>T	NM_015073.2	NP_055888.1:p.(Ser376=)	NC_000019.9:g.38573333C>T	(Likely) benign	1 lab	662c7f40be
7:40277267 SUGCT C>T	7	40277267	40277267	C	T	SUGCT	c.539C>T	NM_001193311.1	NP_001180240.1:p.(Ala180Val)	NC_000007.13:g.40277267C>T	VUS	1 lab	662ce2731e
17:4799825 MINK1 G>A	17	4799825	4799825	G	A	MINK1	c.3441G>A	NM_001321236.1	NP_001308165.1:p.(Thr1147=)	NC_000017.10:g.4799825G>A	(Likely) benign	1 lab	662d0a774d
5:94860194 SKIC3 G>C	5	94860194	94860194	G	C	SKIC3	c.1427C>G	NM_014639.3	NP_055454.1:p.(Thr476Arg)	NC_000005.9:g.94860194G>C	(Likely) benign	1 lab	662e4bb704
7:16445874 CRPPA G>A	7	16445874	16445874	G	A	CRPPA	c.346C>T	NM_001101426.4	NP_001094896.1:p.(Arg116Cys)	NC_000007.13:g.16445874G>A	(Likely) benign	1 lab	f49587785d
17:41243834 BRCA1 AGGTATATT>A	17	41243834	41243843	AGGTATATT	A	BRCA1	c.3706_3713del	NM_007294.4	NP_009225.1:p.(Asn1236PhefsTer5)	NC_000017.10:g.41243836_41243843del	(Likely) pathogenic	1 lab	662f0c461d
22:46656551 PKDREJ T>C	22	46656551	46656551	T	C	PKDREJ	c.2669A>G	NM_006071.1	NP_006062.1:p.(Asn890Ser)	NC_000022.10:g.46656551T>C	(Likely) benign	1 lab	6630cc9faf
2:234680946 UGT1A1 A>G	2	234680946	234680946	A	G	UGT1A1	c.1343A>G	NM_000463.2	NP_000454.1:p.(Lys448Arg)	NC_000002.11:g.234680946A>G	(Likely) benign	1 lab	66312c8e75
1:155698848 DAP3 A>C	1	155698848	155698848	A	C	DAP3	c.619A>C	NM_001199849.1	NP_001186778.1:p.(Lys207Gln)	NC_000001.10:g.155698848A>C	VUS	1 lab	6631414838
6:152680479 SYNE1 G>A	6	152680479	152680479	G	A	SYNE1	c.10414C>T	NM_182961.3	NP_892006.3:p.(Arg3472Ter)	NC_000006.11:g.152680479G>A	VUS	1 lab	6633bb74e7
17:10554959 MYH3 A>G	17	10554959	10554959	A	G	MYH3	c.375T>C	NM_002470.3	NP_002461.2:p.(Thr125=)	NC_000017.10:g.10554959A>G	(Likely) benign	1 lab	6636bfb431
1:97544612 DPYD C>T	1	97544612	97544612	C	T	DPYD	c.2998G>A	NM_000110.3	NP_000101.2:p.(Asp1000Asn)	NC_000001.10:g.97544612C>T	VUS	1 lab	66377235a5
19:55325299 KIR3DL1 C>T	19	55325299	55325299	C	T	KIR3DL1				NC_000019.9:g.55325299C>T	(Likely) benign	1 lab	663a02acac
1:46654964 POMGNT1 G>A	1	46654964	46654964	G	A	POMGNT1	c.1961C>T	NM_017739.3	NP_060209.3:p.(Pro654Leu)	NC_000001.10:g.46654964G>A	(Likely) benign	1 lab	663aee63d7
3:49456587 AMT G>A	3	49456587	49456587	G	A	AMT	c.697-3C>T	NM_000481.3	NP_000472.2:p.?	NC_000003.11:g.49456587G>A	(Likely) benign	1 lab	663b7c5007
4:88537351 DSPP T>C	4	88537351	88537351	T	C	DSPP	c.3537T>C	NM_014208.3	NP_055023.2:p.(Asn1179=)	NC_000004.11:g.88537351T>C	(Likely) benign	1 lab	663d400162
10:13161038 OPTN A>T	10	13161038	13161038	A	T	OPTN	c.777A>T	NM_001008211.1	NP_001008212.1:p.(Glu259Asp)	NC_000010.10:g.13161038A>T	(Likely) benign	1 lab	663e4b7486
15:28171315 OCA2 C>G	15	28171315	28171315	C	G	OCA2	c.2037G>C	NM_000275.2	NP_000266.2:p.(Trp679Cys)	NC_000015.9:g.28171315C>G	VUS	1 lab	663e99cdb5
19:17690299 COLGALT1 C>T	19	17690299	17690299	C	T	COLGALT1	c.1275C>T	NM_024656.4	NP_078932.2:p.(Asp425=)	NC_000019.9:g.17690299C>T	(Likely) benign	1 lab	66402679c6
X:54276035 WNK3 G>A	X	54276035	54276035	G	A	WNK3	c.2746C>T	NM_020922.4	NP_065973.2:p.(Arg916Trp)	NC_000023.10:g.54276035G>A	VUS	1 lab	66416f9386
3:38595864 SCN5A G>A	3	38595864	38595864	G	A	SCN5A	c.4719C>T	NM_198056.3	NP_932173.1:p.(Gly1573=)	NC_000003.11:g.38595864G>A	(Likely) pathogenic	1 lab	f49a7199e5
2:241710563 KIF1A C>T	2	241710563	241710563	C	T	KIF1A	c.1241G>A	NM_001330290.1	NP_001317219.1:p.(Arg414His)	NC_000002.11:g.241710563C>T	(Likely) benign	1 lab	664173f028
11:8662375 TRIM66 T>C	11	8662375	8662375	T	C	TRIM66	c.1112A>G	NM_014818.1	NP_055633.1:p.(Lys371Arg)	NC_000011.9:g.8662375T>C	(Likely) benign	1 lab	66447212cd
6:43568715 POLH A>C	6	43568715	43568715	A	C	POLH	c.661-10A>C	NM_006502.2	NP_006493.1:p.?	NC_000006.11:g.43568715A>C	(Likely) benign	1 lab	6644b47e4d
12:936355 WNK1 T>C	12	936355	936355	T	C	WNK1	c.1080T>C	NM_001184985.1	NP_001171914.1:p.(Pro360=)	NC_000012.11:g.936355T>C	(Likely) benign	1 lab	6645783eb5
15:34537921 SLC12A6 G>T	15	34537921	34537921	G	T	SLC12A6	c.1797C>A	NM_001365088.1	NP_001352017.1:p.(Ala599=)	NC_000015.9:g.34537921G>T	(Likely) benign	1 lab	6645a2ccfd
X:37027999 FAM47C C>G	X	37027999	37027999	C	G	FAM47C	c.1516C>G	NM_001013736.2	NP_001013758.1:p.(Arg506Gly)	NC_000023.10:g.37027999C>G	VUS	1 lab	6646478324
3:4687430 ITPR1 A>G	3	4687430	4687430	A	G	ITPR1	c.855+18A>G	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4687430A>G	(Likely) benign	1 lab	664a428045
12:66308644 HMGA2 A>G	12	66308644	66308644	A	G	HMGA2	c.250-36519A>G	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66308644A>G	(Likely) benign	1 lab	f49a6e31ba
5:34944992 DNAJC21 CAAA>C	5	34944992	34944995	CAAA	C	DNAJC21	c.1005_1007del	NM_001012339.3	NP_001012339.2:p.(Lys337del)	NC_000005.9:g.34944993_34944995del	VUS	1 lab	664b9e84cd
17:76394393 PGS1 A>C	17	76394393	76394393	A	C	PGS1	c.472A>C	NM_024419.5	NP_077733.3:p.(Lys158Gln)	NC_000017.10:g.76394393A>C	(Likely) benign	1 lab	664e73e352
18:29054189 DSG3 G>C	18	29054189	29054189	G	C	DSG3	c.2207G>C	NM_001944.3	NP_001935.2:p.(Gly736Ala)	NC_000018.9:g.29054189G>C	(Likely) benign	1 lab	66500f3443
1:240370980 FMN2 GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCT>G	1	240370980	240371027	GCCCCCTCTTCCCGGGGCAGGCATACCCCTTCCT	G	FMN2	c.2883_2915del	NM_020066.5	NP_064450.3:p.(Leu966_Pro976del)	NC_000001.10:g.240370995_240371027del	(Likely) benign	1 lab	6651a0e87f
12:130827551 PIWIL1 A>G	12	130827551	130827551	A	G	PIWIL1	c.95A>G	NM_004764.4	NP_004755.2:p.(Tyr32Cys)	NC_000012.11:g.130827551A>G	(Likely) benign	1 lab	66536b6bc3
14:65220252 SPTB C>T	14	65220252	65220252	C	T	SPTB	c.6602+3G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65220252C>T	(Likely) benign	1 lab	66537cc8ef
2:179403452 TTN AC>A	2	179403452	179403455	AC	A	TTN	c.99103del	NM_001267550.2	NP_001254479.2:p.(Val33035LeufsTer26)	NC_000002.11:g.179403455del	(Likely) pathogenic	1 lab	665683e810
6:121482100 TBC1D32 G>A	6	121482100	121482100	G	A	TBC1D32	c.2796C>T	NM_001367759.1	NP_001354688.1:p.(Leu932=)	NC_000006.11:g.121482100G>A	(Likely) benign	1 lab	66574d746c
6:56347581 DST G>C	6	56347581	56347581	G	C	DST	c.14945C>G	NM_001144769.2	NP_001138241.1:p.(Ser4982Cys)	NC_000006.11:g.56347581G>C	VUS	1 lab	665ace162d
2:47703505 MSH2 G>T	2	47703505	47703505	G	T	MSH2	c.2006-1G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703505G>T	(Likely) pathogenic	1 lab	f4a0131cfc
1:22970557 C1QC AGCT>A	1	22970557	22970569	AGCT	A	C1QC	c.51_53del	NM_172369.5	NP_758957.2:p.(Leu22del)	NC_000001.10:g.22970567_22970569del	VUS	1 lab	665c11de23
17:29657492 NF1 T>C	17	29657492	29657492	T	C	NF1	c.5725T>C	NM_000267.3	NP_000258.1:p.(Cys1909Arg)	NC_000017.10:g.29657492T>C	(Likely) pathogenic	1 lab	665c3b31ed
7:80290369 CD36 A>G	7	80290369	80290369	A	G	CD36	c.282-10A>G	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80290369A>G	(Likely) benign	1 lab	f4a1937cac
X:101097757 NXF5 C>T	X	101097757	101097757	C	T	NXF5	c.8G>A	NM_032946.2	NP_116564.2:p.(Arg3Gln)	NC_000023.10:g.101097757C>T	(Likely) benign	1 lab	66605ceaa5
1:211652531 RD3 C>T	1	211652531	211652531	C	T	RD3	c.435G>A	NM_183059.2	NP_898882.1:p.(Arg145=)	NC_000001.10:g.211652531C>T	(Likely) benign	1 lab	66613862af
17:29546069 NF1 T>TAA	17	29546069	29546071	T	TAA	NF1	c.1575_1576dup	NM_000267.3	NP_000258.1:p.(Ile526LysfsTer31)	NC_000017.10:g.29546070_29546071dup	(Likely) pathogenic	1 lab	66613a3383
19:17885263 FCHO1 G>A	19	17885263	17885263	G	A	FCHO1	c.896G>A	NM_001161357.1	NP_001154829.1:p.(Arg299Gln)	NC_000019.9:g.17885263G>A	VUS	1 lab	666316cc5c
17:29587382 NF1 TGAA>T	17	29587382	29587386	TGAA	T	NF1	c.4431-3_4431-1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29587384_29587386del	(Likely) pathogenic	1 lab	6663a2d026
4:187527237 FAT1 C>T	4	187527237	187527237	C	T	FAT1	c.10337G>A	NM_005245.4	NP_005236.2:p.(Ser3446Asn)	NC_000004.11:g.187527237C>T	VUS	1 lab	f4a4324611
6:143093343 HIVEP2 G>A	6	143093343	143093343	G	A	HIVEP2	c.2533C>T	NM_006734.3	NP_006725.3:p.(Pro845Ser)	NC_000006.11:g.143093343G>A	(Likely) benign	1 lab	66663f7c88
19:12924252 RNASEH2A G>A	19	12924252	12924252	G	A	RNASEH2A	c.872G>A	NM_006397.2	NP_006388.2:p.(Arg291His)	NC_000019.9:g.12924252G>A	VUS	1 lab	66668d72b2
6:138202447 TNFAIP3 G>A	6	138202447	138202447	G	A	TNFAIP3	c.2364G>A	NM_001270507.1	NP_001257436.1:p.(Met788Ile)	NC_000006.11:g.138202447G>A	(Likely) benign	1 lab	6666b42dfd
17:61683801 TACO1 G>A	17	61683801	61683801	G	A	TACO1	c.515+1G>A	NM_016360.3	NP_057444.2:p.?	NC_000017.10:g.61683801G>A	(Likely) pathogenic	1 lab	6666f7b3aa
X:107978912 IRS4 C>A	X	107978912	107978912	C	A	IRS4	c.663G>T	NM_003604.2	NP_003595.1:p.(Ala221=)	NC_000023.10:g.107978912C>A	(Likely) benign	1 lab	6667c4bf75
12:103310860 PAH CAG>C	12	103310860	103310866	CAG	C	PAH	c.47_48del	NM_000277.3	NP_000268.1:p.(Ser16Ter)	NC_000012.11:g.103310865_103310866del	(Likely) pathogenic	1 lab	6668222712
12:103237442 PAH T>G	12	103237442	103237442	T	G	PAH	c.1181A>C	NM_001354304.1	NP_001341233.1:p.(Asp394Ala)	NC_000012.11:g.103237442T>G	VUS	1 lab	667463b3b6
15:74325656 PML C>T	15	74325656	74325656	C	T	PML	c.1558C>T	NM_033238.2	NP_150241.2:p.(Pro520Ser)	NC_000015.9:g.74325656C>T	(Likely) benign	1 lab	66696e6516
19:831721 AZU1 C>A	19	831721	831721	C	A	AZU1	c.600C>A	NM_001700.5	NP_001691.1:p.(Asp200Glu)	NC_000019.9:g.831721C>A	VUS	1 lab	666ab19e9d
5:13913955 DNAH5 C>T	5	13913955	13913955	C	T	DNAH5	c.1433G>A	NM_001369.2	NP_001360.1:p.(Arg478Gln)	NC_000005.9:g.13913955C>T	VUS	1 lab	666fab768e
2:121708928 GLI2 G>A	2	121708928	121708928	G	A	GLI2	c.364G>A	NM_005270.4	NP_005261.2:p.(Val122Met)	NC_000002.11:g.121708928G>A	(Likely) benign	1 lab	666fc9badd
16:2103453 TSC2 G>GGT	16	2103453	2103455	G	GGT	TSC2	c.336+1_336+2dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2103454_2103455dup	(Likely) pathogenic	1 lab	66705cf461
2:179402473 TTN C>T	2	179402473	179402473	C	T	TTN	c.99461G>A	NM_001267550.2	NP_001254479.2:p.(Arg33154His)	NC_000002.11:g.179402473C>T	VUS	1 lab	f4a4ecdae1
7:103216139 RELN G>A	7	103216139	103216139	G	A	RELN	c.4159C>T	NM_005045.3	NP_005036.2:p.(Arg1387Ter)	NC_000007.13:g.103216139G>A	VUS	1 lab	66749877ad
14:74711943 VSX2 C>T	14	74711943	74711943	C	T	VSX2	c.531C>T	NM_182894.2	NP_878314.1:p.(Ala177=)	NC_000014.8:g.74711943C>T	(Likely) benign	1 lab	66751f6fc6
12:58190185 TSFM T>A	12	58190185	58190185	T	A	TSFM	c.860T>A	NM_001172696.1	NP_001166167.1:p.(Leu287His)	NC_000012.11:g.58190185T>A	VUS	1 lab	667641f13e
10:96022273 PLCE1 G>A	10	96022273	96022273	G	A	PLCE1	c.3837G>A	NM_016341.3	NP_057425.3:p.(Ser1279=)	NC_000010.10:g.96022273G>A	(Likely) benign	1 lab	6676434dbc
8:125498547 RNF139 C>T	8	125498547	125498547	C	T	RNF139	c.657C>T	NM_007218.4	NP_009149.2:p.(Tyr219=)	NC_000008.10:g.125498547C>T	(Likely) benign	1 lab	f4a9e46f0a
14:91809970 CCDC88C C>T	14	91809970	91809970	C	T	CCDC88C	c.372G>A	NM_001080414.3	NP_001073883.2:p.(Leu124=)	NC_000014.8:g.91809970C>T	(Likely) benign	1 lab	667acc936f
X:140969362 MAGEC3 G>C	X	140969362	140969362	G	C	MAGEC3	c.689G>C	NM_138702.1	NP_619647.1:p.(Arg230Pro)	NC_000023.10:g.140969362G>C	(Likely) benign	1 lab	667b6d9e3b
9:12695707 TYRP1 A>G	9	12695707	12695707	A	G	TYRP1	c.578A>G	NM_000550.2	NP_000541.1:p.(Tyr193Cys)	NC_000009.11:g.12695707A>G	VUS	1 lab	667ba9acb8
3:4715889 ITPR1 T>G	3	4715889	4715889	T	G	ITPR1	c.2460T>G	NM_001099952.2	NP_001093422.2:p.(Tyr820Ter)	NC_000003.11:g.4715889T>G	VUS	1 lab	667dc9d569
20:33582123 MYH7B C>T	20	33582123	33582123	C	T	MYH7B	c.2745C>T	NM_020884.4	NP_065935.3:p.(Ala915=)	NC_000020.10:g.33582123C>T	(Likely) benign	1 lab	667fc261ce
8:65528453 CYP7B1 A>G	8	65528453	65528453	A	G	CYP7B1	c.645T>C	NM_004820.4	NP_004811.1:p.(Asp215=)	NC_000008.10:g.65528453A>G	(Likely) benign	1 lab	66804cb7c8
7:21640530 DNAH11 T>C	7	21640530	21640530	T	C	DNAH11				NC_000007.13:g.21640530T>C	(Likely) benign	1 lab	66810e2910
9:139401237 NOTCH1 C>T	9	139401237	139401237	C	T	NOTCH1	c.3832G>A	NM_017617.5	NP_060087.3:p.(Ala1278Thr)	NC_000009.11:g.139401237C>T	(Likely) benign	1 lab	668119c5b6
4:126367481 FAT4 G>A	4	126367481	126367481	G	A	FAT4	c.7233G>A	NM_001291303.1	NP_001278232.1:p.(Thr2411=)	NC_000004.11:g.126367481G>A	(Likely) benign	1 lab	668273b0e4
10:112327597 SMC3 C>T	10	112327597	112327597	C	T	SMC3	c.15+8C>T	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112327597C>T	(Likely) benign	1 lab	6683d9d91a
15:74659821 CYP11A1 C>T	15	74659821	74659821	C	T	CYP11A1	c.106G>A	NM_000781.2	NP_000772.2:p.(Glu36Lys)	NC_000015.9:g.74659821C>T	(Likely) benign	1 lab	6683eee55d
9:135778042 TSC1 G>A	9	135778042	135778042	G	A	TSC1	c.2341C>T	NM_000368.4	NP_000359.1:p.(Gln781Ter)	NC_000009.11:g.135778042G>A	(Likely) pathogenic	1 lab	6685dc6ba7
9:139418268 NOTCH1 G>T	9	139418268	139418268	G	T	NOTCH1	c.304C>A	NM_017617.5	NP_060087.3:p.(Leu102Met)	NC_000009.11:g.139418268G>T	(Likely) benign	1 lab	6685ecc742
10:102770379 PDZD7 A>T	10	102770379	102770379	A	T	PDZD7	c.2267T>A	NM_001195263.1	NP_001182192.1:p.(Leu756Gln)	NC_000010.10:g.102770379A>T	VUS	1 lab	6686f267af
X:10188878 CLCN4 G>A	X	10188878	10188878	G	A	CLCN4	c.2153G>A	NM_001830.4	NP_001821.2:p.(Arg718Gln)	NC_000023.10:g.10188878G>A	VUS	1 lab	f4aabb4956
2:166611196 GALNT3 T>C	2	166611196	166611196	T	C	GALNT3	c.1567A>G	NM_004482.3	NP_004473.2:p.(Asn523Asp)	NC_000002.11:g.166611196T>C	(Likely) benign	1 lab	6687aaf80a
17:70120311 SOX9 C>T	17	70120311	70120311	C	T	SOX9	c.1313C>T	NM_000346.4	NP_000337.1:p.(Ser438Leu)	NC_000017.10:g.70120311C>T	VUS	1 lab	f4acdf902f
8:94767336 TMEM67 G>T	8	94767336	94767336	G	T	TMEM67	c.194G>T	NM_153704.5	NP_714915.3:p.(Cys65Phe)	NC_000008.10:g.94767336G>T	VUS	1 lab	66891ecfec
5:137902703 HSPA9 T>G	5	137902703	137902703	T	G	HSPA9	c.866A>C	NM_004134.7	NP_004125.3:p.(Glu289Ala)	NC_000005.9:g.137902703T>G	VUS	1 lab	f4ae1fbb02
X:66905927 AR G>T	X	66905927	66905927	G	T	AR	c.1844G>T	NM_000044.4	NP_000035.2:p.(Cys615Phe)	NC_000023.10:g.66905927G>T	(Likely) pathogenic	1 lab	6689a9c131
9:108380383 FKTN A>G	9	108380383	108380383	A	G	FKTN	c.1044+10A>G	NM_006731.2	NP_006722.2:p.?	NC_000009.11:g.108380383A>G	(Likely) benign	1 lab	6689c21cac
1:5927923 NPHP4 C>T	1	5927923	5927923	C	T	NPHP4	c.3349G>A	NM_015102.4	NP_055917.1:p.(Ala1117Thr)	NC_000001.10:g.5927923C>T	VUS	1 lab	668a321f51
2:179410236 TTN C>T	2	179410236	179410236	C	T	TTN	c.95601G>A	NM_001267550.1	NP_001254479.1:p.(Arg31867=)	NC_000002.11:g.179410236C>T	(Likely) benign	1 lab	668b2b0416
16:29996847 TAOK2 T>G	16	29996847	29996847	T	G	TAOK2	c.1736T>G	NM_016151.4	NP_057235.2:p.(Leu579Arg)	NC_000016.9:g.29996847T>G	VUS	1 lab	668b66853f
13:52549264 ATP7B G>A	13	52549264	52549264	G	A	ATP7B	c.92C>T	NM_000053.3	NP_000044.2:p.(Pro31Leu)	NC_000013.10:g.52549264G>A	(Likely) benign	1 lab	668ba830d6
7:103020939 SLC26A5 G>A	7	103020939	103020939	G	A	SLC26A5	c.1572C>T	NM_198999.2	NP_945350.1:p.(Asp524=)	NC_000007.13:g.103020939G>A	(Likely) benign	1 lab	668d4aac22
X:77276490 ATP7A T>C	X	77276490	77276490	T	C	ATP7A	c.2830T>C	NM_000052.6	NP_000043.4:p.(Phe944Leu)	NC_000023.10:g.77276490T>C	VUS	1 lab	668da76552
2:241663402 KIF1A C>T	2	241663402	241663402	C	T	KIF1A	c.4308G>A	NM_001244008.1	NP_001230937.1:p.(Ala1436=)	NC_000002.11:g.241663402C>T	(Likely) benign	1 lab	668dc3d824
22:28497190 TTC28 G>A	22	28497190	28497190	G	A	TTC28	c.3386C>T	NM_001145418.1	NP_001138890.1:p.(Ala1129Val)	NC_000022.10:g.28497190G>A	VUS	1 lab	668df11777
3:9476019 SETD5 C>T	3	9476019	9476019	C	T	SETD5	c.179C>T	NM_001080517.3	NP_001073986.1:p.(Thr60Met)	NC_000003.11:g.9476019C>T	VUS	1 lab	f4f8ba557c
X:18690152 RS1 G>A	X	18690152	18690152	G	A	RS1	c.37C>T	NM_000330.3	NP_000321.1:p.(Leu13Phe)	NC_000023.10:g.18690152G>A	VUS	1 lab	668e512c61
2:65299808 CEP68 G>A	2	65299808	65299808	G	A	CEP68	c.1578G>A	NM_001319100.1	NP_001306029.1:p.(Gly526=)	NC_000002.11:g.65299808G>A	(Likely) benign	1 lab	668eb3cd5e
17:17075037 MPRIP G>A	17	17075037	17075037	G	A	MPRIP	c.2169G>A	NM_015134.3	NP_055949.2:p.(Thr723=)	NC_000017.10:g.17075037G>A	(Likely) benign	1 lab	668f5dcd9b
16:2098735 TSC2 TC>T	16	2098735	2098736	TC	T	TSC2	c.120del	NM_000548.5	NP_000539.2:p.(Thr41ProfsTer5)	NC_000016.9:g.2098736del	(Likely) pathogenic	1 lab	668fa945f9
10:135103325 TUBGCP2 C>CGG	10	135103325	135103326	C	CGG	TUBGCP2	c.1444+2_1444+3insCC	NM_001256617.1	NP_001243546.1:p.?	NC_000010.10:g.135103325_135103326insGG	(Likely) benign	1 lab	6690c365ae
1:114441334 AP4B1 C>T	1	114441334	114441334	C	T	AP4B1	c.1198+6G>A	NM_006594.4	NP_006585.2:p.?	NC_000001.10:g.114441334C>T	(Likely) benign	1 lab	66912b6889
14:23886066 MYH7 C>T	14	23886066	23886066	C	T	MYH7	c.4644+11G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886066C>T	(Likely) benign	1 lab	6693460ec8
2:32477621 NLRC4 G>A	2	32477621	32477621	G	A	NLRC4	c.129C>T	NM_021209.4	NP_067032.3:p.(Cys43=)	NC_000002.11:g.32477621G>A	(Likely) benign	1 lab	66942a9ba1
2:98351074 ZAP70 C>G	2	98351074	98351074	C	G	ZAP70	c.981C>G	NM_001079.3	NP_001070.2:p.(Asp327Glu)	NC_000002.11:g.98351074C>G	(Likely) benign	1 lab	6695648898
X:135427342 ADGRG4 T>C	X	135427342	135427342	T	C	ADGRG4	c.1477T>C	NM_153834.3	NP_722576.3:p.(Leu493=)	NC_000023.10:g.135427342T>C	(Likely) benign	1 lab	66957a595e
11:34492517 CAT A>G	11	34492517	34492517	A	G	CAT	c.1447A>G	NM_001752.3	NP_001743.1:p.(Thr483Ala)	NC_000011.9:g.34492517A>G	(Likely) benign	1 lab	6695cc1ea9
15:93536206 CHD2 G>A	15	93536206	93536206	G	A	CHD2	c.3573G>A	NM_001271.3	NP_001262.3:p.(Gln1191=)	NC_000015.9:g.93536206G>A	(Likely) benign	1 lab	6696117d1b
1:220326637 RAB3GAP2 G>A	1	220326637	220326637	G	A	RAB3GAP2	c.3757C>T	NM_012414.3	NP_036546.2:p.(Pro1253Ser)	NC_000001.10:g.220326637G>A	(Likely) benign	1 lab	6697196a5a
11:6631831 ILK C>A	11	6631831	6631831	C	A	ILK	c.1348C>A	NM_004517.2	NP_004508.1:p.(Gln450Lys)	NC_000011.9:g.6631831C>A	VUS	1 lab	669780fa12
16:2160716 PKD1 C>A	16	2160716	2160716	C	A	PKD1	c.4452G>T	NM_001009944.2	NP_001009944.2:p.(Pro1484=)	NC_000016.9:g.2160716C>A	(Likely) benign	1 lab	6697caf5ce
9:130580492 ENG G>A	9	130580492	130580492	G	A	ENG	c.1593C>T	NM_000118.3	NP_000109.1:p.(Ser531=)	NC_000009.11:g.130580492G>A	(Likely) benign	1 lab	f4b65dadf1
11:89133455 NOX4 C>T	11	89133455	89133455	C	T	NOX4	c.867G>A	NM_001143837.1	NP_001137309.1:p.(Ser289=)	NC_000011.9:g.89133455C>T	(Likely) benign	1 lab	669a580d95
X:151935824 MAGEA3 C>T	X	151935824	151935824	C	T	MAGEA3	c.343G>A	NM_005362.3	NP_005353.1:p.(Glu115Lys)	NC_000023.10:g.151935824C>T	(Likely) benign	1 lab	669afff93a
10:67862960 CTNNA3 C>T	10	67862960	67862960	C	T	CTNNA3	c.1932G>A	NM_013266.3	NP_037398.2:p.(Glu644=)	NC_000010.10:g.67862960C>T	(Likely) benign	1 lab	669c33277a
16:70977806 HYDIN C>G	16	70977806	70977806	C	G	HYDIN	c.6578G>C	NM_001270974.2	NP_001257903.1:p.(Ser2193Thr)	NC_000016.9:g.70977806C>G	VUS	1 lab	669ccb6f73
X:17743936 NHS C>T	X	17743936	17743936	C	T	NHS	c.1710C>T	NM_001291867.1	NP_001278796.1:p.(His570=)	NC_000023.10:g.17743936C>T	(Likely) benign	1 lab	669d105dff
1:169586284 SELP G>A	1	169586284	169586284	G	A	SELP	c.463C>T	NM_003005.3	NP_002996.2:p.(His155Tyr)	NC_000001.10:g.169586284G>A	VUS	1 lab	669ddd441a
16:2546829 TBC1D24 G>A	16	2546829	2546829	G	A	TBC1D24	c.680G>A	NM_001199107.1	NP_001186036.1:p.(Arg227Gln)	NC_000016.9:g.2546829G>A	VUS	1 lab	669e59f56e
3:186793412 ST6GAL1 C>T	3	186793412	186793412	C	T	ST6GAL1	c.1042C>T	NM_173216.2	NP_775323.1:p.(Arg348Cys)	NC_000003.11:g.186793412C>T	VUS	1 lab	66a22fa6b6
17:78084535 GAA G>A	17	78084535	78084535	G	A	GAA	c.1447G>A	NM_000152.3	NP_000143.2:p.(Gly483Arg)	NC_000017.10:g.78084535G>A	(Likely) pathogenic	1 lab	66a3811738
18:30903476 CCDC178 T>C	18	30903476	30903476	T	C	CCDC178	c.1001A>G	NM_001308126.1	NP_001295055.1:p.(Glu334Gly)	NC_000018.9:g.30903476T>C	VUS	1 lab	66a4f45b08
19:855804 ELANE C>G	19	855804	855804	C	G	ELANE	c.597+10C>G	NM_001972.2	NP_001963.1:p.?	NC_000019.9:g.855804C>G	(Likely) benign	1 lab	66a5d216aa
X:49227312 GAGE2C T>C	X	49227312	49227312	T	C	GAGE2C	c.19T>C	NM_001472.2	NP_001463.1:p.(Ser7Pro)	NC_000023.10:g.49227312T>C	(Likely) benign	1 lab	66a684dd5b
14:95590710 DICER1 C>CA	14	95590710	95590711	C	CA	DICER1	c.1198dup	NM_030621.4	NP_085124.2:p.(Trp400LeufsTer3)	NC_000014.8:g.95590711dup	(Likely) pathogenic	1 lab	66a691b6cb
19:14862332 ADGRE2 A>T	19	14862332	14862332	A	T	ADGRE2	c.1940T>A	NM_013447.3	NP_038475.2:p.(Met647Lys)	NC_000019.9:g.14862332A>T	VUS	1 lab	66a8c55ee9
2:217279544 SMARCAL1 C>T	2	217279544	217279544	C	T	SMARCAL1	c.117C>T	NM_014140.3	NP_054859.2:p.(Gly39=)	NC_000002.11:g.217279544C>T	VUS	1 lab	66a977e3ff
11:17632615 OTOG T>C	11	17632615	17632615	T	C	OTOG	c.5804T>C	NM_001277269.1	NP_001264198.1:p.(Met1935Thr)	NC_000011.9:g.17632615T>C	(Likely) benign	1 lab	66aac16e18
1:116311183 CASQ2 C>T	1	116311183	116311183	C	T	CASQ2	c.-21G>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116311183C>T	(Likely) benign	1 lab	66aacd70e7
19:38572367 SIPA1L3 G>GGCCACC	19	38572367	38572397	G	GGCCACC	SIPA1L3	c.187_192dup	NM_015073.2	NP_055888.1:p.(Ala63_Thr64dup)	NC_000019.9:g.38572392_38572397dup	(Likely) benign	1 lab	66ab5cec78
10:49687706 ARHGAP22 G>A	10	49687706	49687706	G	A	ARHGAP22	c.424C>T	NM_001256024.1	NP_001242953.1:p.(Arg142Ter)	NC_000010.10:g.49687706G>A	(Likely) pathogenic	1 lab	66ab9fc171
6:74354175 SLC17A5 C>T	6	74354175	74354175	C	T	SLC17A5	c.246G>A	NM_012434.4	NP_036566.1:p.(Ala82=)	NC_000006.11:g.74354175C>T	(Likely) benign	1 lab	66abd1e235
4:110884362 EGF A>G	4	110884362	110884362	A	G	EGF	c.1346A>G	NM_001963.5	NP_001954.2:p.(Gln449Arg)	NC_000004.11:g.110884362A>G	VUS	1 lab	66ad0d0588
6:31752277 VARS1 C>T	6	31752277	31752277	C	T	VARS1	c.1470G>A	NM_006295.2	NP_006286.1:p.(Val490=)	NC_000006.11:g.31752277C>T	VUS	1 lab	66ad42f9f3
17:17699038 RAI1 A>G	17	17699038	17699038	A	G	RAI1	c.2776A>G	NM_030665.3	NP_109590.3:p.(Ile926Val)	NC_000017.10:g.17699038A>G	(Likely) benign	1 lab	66ae4a3b85
18:5890729 TMEM200C G>A	18	5890729	5890729	G	A	TMEM200C	c.1334C>T	NM_001080209.2	NP_001073678.1:p.(Ala445Val)	NC_000018.9:g.5890729G>A	(Likely) benign	1 lab	66af843b39
2:179597843 TTN C>G	2	179597843	179597843	C	G	TTN	c.16060G>C	NM_001267550.1	NP_001254479.1:p.(Asp5354His)	NC_000002.11:g.179597843C>G	VUS	1 lab	66b141dd2d
11:133795775 MISSING G>C	11	133795775	133795775	G	C	MISSING				NC_000011.9:g.133795775G>C	(Likely) benign	1 lab	66b1da3332
4:649776 PDE6B A>AC	4	649776	649777	A	AC	PDE6B	c.1041dup	NM_000283.3	NP_000274.2:p.(Val348ArgfsTer9)	NC_000004.11:g.649777dup	(Likely) pathogenic	1 lab	66b227b82d
1:94487466 ABCA4 G>A	1	94487466	94487466	G	A	ABCA4	c.4709C>T	NM_000350.2	NP_000341.2:p.(Pro1570Leu)	NC_000001.10:g.94487466G>A	VUS	1 lab	66b2e4fc36
4:126372945 FAT4 C>T	4	126372945	126372945	C	T	FAT4	c.10780C>T	NM_001291303.1	NP_001278232.1:p.(Pro3594Ser)	NC_000004.11:g.126372945C>T	VUS	1 lab	66b356e419
11:67816421 TCIRG1 G>A	11	67816421	67816421	G	A	TCIRG1	c.736G>A	NM_001351059.1	NP_001337988.1:p.(Val246Met)	NC_000011.9:g.67816421G>A	VUS	1 lab	66b39de012
9:98248029 PTCH1 C>T	9	98248029	98248029	C	T	PTCH1	c.324G>A	NM_001083602.1	NP_001077071.1:p.(Ala108=)	NC_000009.11:g.98248029C>T	(Likely) benign	1 lab	66b458454e
16:2338133 ABCA3 G>A	16	2338133	2338133	G	A	ABCA3	c.2898C>T	NM_001089.2	NP_001080.2:p.(Thr966=)	NC_000016.9:g.2338133G>A	(Likely) benign	1 lab	66b7f7b2be
7:94056540 COL1A2 G>A	7	94056540	94056540	G	A	COL1A2	c.3200G>A	NM_000089.3	NP_000080.2:p.(Arg1067His)	NC_000007.13:g.94056540G>A	VUS	1 lab	66b820729f
19:38383433 WDR87 G>A	19	38383433	38383433	G	A	WDR87	c.2910C>T	NM_001291088.1	NP_001278017.1:p.(Thr970=)	NC_000019.9:g.38383433G>A	(Likely) benign	1 lab	66b89c9aa2
21:47627429 LSS G>A	21	47627429	47627429	G	A	LSS	c.1140C>T	NM_001145437.1	NP_001138909.1:p.(Ala380=)	NC_000021.8:g.47627429G>A	(Likely) benign	1 lab	66b9cdebd6
1:120286532 PHGDH C>T	1	120286532	120286532	C	T	PHGDH	c.1471C>T	NM_006623.3	NP_006614.2:p.(Arg491Trp)	NC_000001.10:g.120286532C>T	VUS	1 lab	66b9ef3ae9
10:45939185 ALOX5 A>C	10	45939185	45939185	A	C	ALOX5	c.1583A>C	NM_000698.4	NP_000689.1:p.(Lys528Thr)	NC_000010.10:g.45939185A>C	VUS	1 lab	66b9fe48ad
9:14812939 FREM1 C>T	9	14812939	14812939	C	T	FREM1	c.2764G>A	NM_144966.5	NP_659403.4:p.(Asp922Asn)	NC_000009.11:g.14812939C>T	(Likely) benign	1 lab	66bbc02f07
5:13794163 DNAH5 G>A	5	13794163	13794163	G	A	DNAH5	c.7892C>T	NM_001369.2	NP_001360.1:p.(Thr2631Met)	NC_000005.9:g.13794163G>A	VUS	1 lab	66bede59e9
15:45436413 DUOX1 A>T	15	45436413	45436413	A	T	DUOX1	c.2116A>T	NM_017434.4	NP_059130.2:p.(Ile706Phe)	NC_000015.9:g.45436413A>T	VUS	1 lab	66bf19a83f
1:27105595 ARID1A G>GT	1	27105595	27105596	G	GT	ARID1A	c.5207dup	NM_006015.4	NP_006006.3:p.(Asp1738Ter)	NC_000001.10:g.27105596dup	(Likely) pathogenic	1 lab	66c0316708
17:11711081 DNAH9 G>A	17	11711081	11711081	G	A	DNAH9	c.8453G>A	NM_001372.3	NP_001363.2:p.(Arg2818Gln)	NC_000017.10:g.11711081G>A	VUS	1 lab	66c28278a4
20:46288159 SULF2 G>T	20	46288159	46288159	G	T	SULF2	c.2566C>A	NM_001161841.1	NP_001155313.1:p.(Pro856Thr)	NC_000020.10:g.46288159G>T	VUS	1 lab	66c28fb1e3
17:8784942 PIK3R5 C>T	17	8784942	8784942	C	T	PIK3R5	c.1224+5G>A	NM_001251851.1	NP_001238780.1:p.?	NC_000017.10:g.8784942C>T	(Likely) benign	1 lab	66c2e60923
17:42457474 ITGA2B G>A	17	42457474	42457474	G	A	ITGA2B	c.1648C>T	NM_000419.3	NP_000410.2:p.(Arg550Trp)	NC_000017.10:g.42457474G>A	VUS	1 lab	66c33864d8
4:126240720 FAT4 T>C	4	126240720	126240720	T	C	FAT4	c.3154T>C	NM_001291303.1	NP_001278232.1:p.(Leu1052=)	NC_000004.11:g.126240720T>C	(Likely) benign	1 lab	66c37477fa
21:43809044 TMPRSS3 G>A	21	43809044	43809044	G	A	TMPRSS3	c.316C>T	NM_024022.2	NP_076927.1:p.(Arg106Cys)	NC_000021.8:g.43809044G>A	(Likely) pathogenic	1 lab	66c3d16df4
22:18593651 TUBA8 C>G	22	18593651	18593651	C	G	TUBA8	c.3+17C>G	NM_018943.2	NP_061816.1:p.?	NC_000022.10:g.18593651C>G	(Likely) benign	1 lab	66c4615239
4:90749507 SNCA CAG>C	4	90749507	90749509	CAG	C	SNCA	c.122-174_122-173del	NM_000345.4	NP_000336.1:p.?	NC_000004.11:g.90749508_90749509del	(Likely) benign	1 lab	66c75076df
6:152536106 SYNE1 G>T	6	152536106	152536106	G	T	SYNE1	c.22281C>A	NM_182961.3	NP_892006.3:p.(Ile7427=)	NC_000006.11:g.152536106G>T	(Likely) benign	1 lab	66c8b31017
20:1291105 SDCBP2 G>T	20	1291105	1291105	G	T	SDCBP2	c.859C>A	NM_080489.4	NP_536737.3:p.(His287Asn)	NC_000020.10:g.1291105G>T	VUS	1 lab	66c91c916a
4:15529082 CC2D2A G>A	4	15529082	15529082	G	A	CC2D2A	c.1162G>A	NM_001080522.2	NP_001073991.2:p.(Val388Ile)	NC_000004.11:g.15529082G>A	(Likely) benign	1 lab	66cdcf1818
1:147381187 GJA8 G>T	1	147381187	147381187	G	T	GJA8	c.1105G>T	NM_005267.4	NP_005258.2:p.(Gly369Trp)	NC_000001.10:g.147381187G>T	VUS	1 lab	66ced3edb4
3:142413338 PLS1 G>A	3	142413338	142413338	G	A	PLS1	c.1205G>A	NM_001172312.1	NP_001165783.1:p.(Arg402Gln)	NC_000003.11:g.142413338G>A	VUS	1 lab	66d122ece0
6:157099341 ARID1B ACCACCACCATGCCCACCACCT>A	6	157099341	157099371	ACCACCACCATGCCCACCACCT	A	ARID1B	c.537_557del	NM_001371656.1	NP_001358585.1:p.(Ala180_His186del)	NC_000006.11:g.157099351_157099371del	VUS	1 lab	f4bcc6b4a1
1:247587643 NLRP3 C>T	1	247587643	247587643	C	T	NLRP3	c.898C>T	NM_004895.5	NP_004886.3:p.(Leu300Phe)	NC_000001.10:g.247587643C>T	VUS	1 lab	f4bed8187f
11:65487755 RNASEH2C G>A	11	65487755	65487755	G	A	RNASEH2C	c.306C>T	NM_032193.3	NP_115569.2:p.(Ser102=)	NC_000011.9:g.65487755G>A	(Likely) benign	1 lab	66d4cbd6a8
4:100485262 MTTP A>C	4	100485262	100485262	A	C	MTTP	c.10A>C	NM_001300785.1	NP_001287714.1:p.(Arg4=)	NC_000004.11:g.100485262A>C	(Likely) benign	1 lab	66d57f64f0
3:36547286 STAC T>C	3	36547286	36547286	T	C	STAC	c.880T>C	NM_003149.2	NP_003140.1:p.(Tyr294His)	NC_000003.11:g.36547286T>C	(Likely) benign	1 lab	66d5a7553c
16:88498824 ZNF469 C>T	16	88498824	88498824	C	T	ZNF469				NC_000016.9:g.88498824C>T	(Likely) benign	1 lab	66d6cc6237
14:23893145 MYH7 C>T	14	23893145	23893145	C	T	MYH7	c.2893G>A	NM_000257.2	NP_000248.2:p.(Glu965Lys)	NC_000014.8:g.23893145C>T	VUS	1 lab	66d887c4b6
2:74777384 LOXL3 C>T	2	74777384	74777384	C	T	LOXL3	c.405G>A	NM_032603.4	NP_115992.1:p.(Thr135=)	NC_000002.11:g.74777384C>T	(Likely) benign	1 lab	66d983681a
9:139317578 PMPCA C>T	9	139317578	139317578	C	T	PMPCA	c.1440C>T	NM_015160.2	NP_055975.1:p.(Val480=)	NC_000009.11:g.139317578C>T	(Likely) benign	1 lab	66d9ff2a74
11:118392804 KMT2A G>A	11	118392804	118392804	G	A	KMT2A	c.11836G>A	NM_001197104.2	NP_001184033.1:p.(Asp3946Asn)	NC_000011.9:g.118392804G>A	VUS	1 lab	f4bff9ea60
17:29553662 NF1 AT>A	17	29553662	29553664	AT	A	NF1	c.2213del	NM_001042492.3	NP_001035957.1:p.(Phe738SerfsTer10)	NC_000017.10:g.29553664del	(Likely) pathogenic	1 lab	66dafa4216
12:7053675 C12orf57 C>G	12	7053675	7053675	C	G	C12orf57	c.89C>G	NM_138425.3	NP_612434.1:p.(Pro30Arg)	NC_000012.11:g.7053675C>G	VUS	1 lab	66dc06e90f
15:89861765 POLG C>T	15	89861765	89861765	C	T	POLG	c.3482+7G>A	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89861765C>T	(Likely) benign	1 lab	66dda5899e
9:117185612 WHRN G>C	9	117185612	117185612	G	C	WHRN	c.1608C>G	NM_015404.3	NP_056219.3:p.(Thr536=)	NC_000009.11:g.117185612G>C	(Likely) benign	1 lab	66de22a1e9
X:134232627 SMIM10L2B C>T	X	134232627	134232627	C	T	SMIM10L2B	c.37G>A	NM_001348255.2	NP_001335184.1:p.(Ala13Thr)	NC_000023.10:g.134232627C>T	(Likely) benign	1 lab	66e0912c4f
2:179527751 TTN G>A	2	179527751	179527751	G	A	TTN	c.36732C>T	NM_001267550.1	NP_001254479.1:p.(Val12244=)	NC_000002.11:g.179527751G>A	(Likely) benign	1 lab	66e1c322bb
15:49048428 CEP152 GT>G	15	49048428	49048434	GT	G	CEP152	c.3016del	NM_001194998.2	NP_001181927.1:p.(Thr1006LeufsTer15)	NC_000015.9:g.49048434del	(Likely) pathogenic	1 lab	66e1f83130
17:72308261 DNAI2 C>T	17	72308261	72308261	C	T	DNAI2	c.1614C>T	NM_023036.5	NP_075462.3:p.(Ala538=)	NC_000017.10:g.72308261C>T	(Likely) benign	1 lab	66e231746e
10:95163785 MYOF A>G	10	95163785	95163785	A	G	MYOF	c.838T>C	NM_013451.4	NP_038479.1:p.(Phe280Leu)	NC_000010.10:g.95163785A>G	VUS	1 lab	f4c464cbc5
21:34050940 SYNJ1 ATA>T	21	34050940	34050942	ATA	T	SYNJ1	c.1627+13_1627+15delinsA	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34050940_34050942delinsT	(Likely) benign	1 lab	66e3d074c9
2:179467213 TTN C>T	2	179467213	179467213	C	T	TTN	c.54916G>A	NM_001267550.2	NP_001254479.2:p.(Gly18306Arg)	NC_000002.11:g.179467213C>T	VUS	1 lab	f4c77661fc
6:167787870 TCP10L3 G>A	6	167787870	167787870	G	A	TCP10L3	c.758C>T	NM_004610.3	NP_004601.3:p.(Ala253Val)	NC_000006.11:g.167787870G>A	(Likely) benign	1 lab	66e55ba73b
11:66475045 SPTBN2 T>G	11	66475045	66475045	T	G	SPTBN2	c.1595A>C	NM_006946.4	NP_008877.2:p.(Glu532Ala)	NC_000011.9:g.66475045T>G	VUS	1 lab	f4c9e1566d
8:17796392 PCM1 C>T	8	17796392	17796392	C	T	PCM1	c.486C>T	NM_001352650.1	NP_001339579.1:p.(Asn162=)	NC_000008.10:g.17796392C>T	(Likely) benign	1 lab	66e93c27cb
7:82544057 PCLO G>A	7	82544057	82544057	G	A	PCLO	c.13245C>T	NM_033026.5	NP_149015.2:p.(Asp4415=)	NC_000007.13:g.82544057G>A	(Likely) benign	1 lab	66eaafc17f
11:68700826 IGHMBP2 C>T	11	68700826	68700826	C	T	IGHMBP2	c.1295C>T	NM_002180.2	NP_002171.2:p.(Ala432Val)	NC_000011.9:g.68700826C>T	(Likely) benign	1 lab	66eb324a4c
X:152915688 DUSP9 T>C	X	152915688	152915688	T	C	DUSP9	c.1083T>C	NM_001318503.2	NP_001305432.1:p.(Ser361=)	NC_000023.10:g.152915688T>C	(Likely) benign	1 lab	66ebf0787e
21:46925140 COL18A1 C>A	21	46925140	46925140	C	A	COL18A1	c.3492C>A	NM_030582.4	NP_085059.2:p.(Pro1164=)	NC_000021.8:g.46925140C>A	(Likely) benign	1 lab	66ec14380a
21:47565831 FTCD T>G	21	47565831	47565831	T	G	FTCD	c.999A>C	NM_001320412.1	NP_001307341.1:p.(Arg333=)	NC_000021.8:g.47565831T>G	(Likely) benign	1 lab	66ec843925
15:83330603 AP3B2 C>G	15	83330603	83330603	C	G	AP3B2	c.2990G>C	NM_001278512.1	NP_001265441.1:p.(Ser997Thr)	NC_000015.9:g.83330603C>G	(Likely) benign	1 lab	66ecca2261
15:45440621 DUOX1 C>T	15	45440621	45440621	C	T	DUOX1	c.2794C>T	NM_017434.4	NP_059130.2:p.(Arg932Cys)	NC_000015.9:g.45440621C>T	VUS	1 lab	66ed799382
17:29679330 NF1 G>GC	17	29679330	29679331	G	GC	NF1	c.7451dup	NM_000267.3	NP_000258.1:p.(Ala2485SerfsTer30)	NC_000017.10:g.29679331dup	(Likely) pathogenic	1 lab	66f054d1f2
17:80885776 TBCD A>G	17	80885776	80885776	A	G	TBCD	c.2610-5A>G	NM_005993.4	NP_005984.3:p.?	NC_000017.10:g.80885776A>G	(Likely) benign	1 lab	66f06a7a68
16:23640599 PALB2 G>A	16	23640599	23640599	G	A	PALB2	c.2515-3C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640599G>A	VUS	1 lab	f4cbd29fdd
2:9634856 ADAM17 A>G	2	9634856	9634856	A	G	ADAM17	c.1824T>C	NM_003183.6	NP_003174.3:p.(Ser608=)	NC_000002.11:g.9634856A>G	(Likely) benign	1 lab	f4d02e86b7
17:29587385 NF1 A>G	17	29587385	29587385	A	G	NF1	c.4368-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587385A>G	(Likely) pathogenic	1 lab	66f48399b3
X:110653301 DCX C>T	X	110653301	110653301	C	T	DCX	c.326G>A	NM_178153.2	NP_835366.1:p.(Gly109Glu)	NC_000023.10:g.110653301C>T	VUS	1 lab	66fa8d8a71
4:74124295 ANKRD17 C>CG	4	74124295	74124302	C	CG	ANKRD17	c.90dup	NM_032217.4	NP_115593.3:p.(Ala31ArgfsTer47)	NC_000004.11:g.74124302dup	VUS	1 lab	66fbf7b905
3:11399982 ATG7 G>T	3	11399982	11399982	G	T	ATG7	c.1375G>T	NM_006395.2	NP_006386.1:p.(Glu459Ter)	NC_000003.11:g.11399982G>T	VUS	1 lab	66fef85d8c
11:1265021 MUC5B C>A	11	1265021	1265021	C	A	MUC5B	c.6911C>A	NM_002458.2	NP_002449.2:p.(Ala2304Asp)	NC_000011.9:g.1265021C>A	(Likely) benign	1 lab	66ffbbe9ff
10:73588830 PSAP C>T	10	73588830	73588830	C	T	PSAP	c.380G>A	NM_001042465.2	NP_001035930.1:p.(Arg127His)	NC_000010.10:g.73588830C>T	(Likely) benign	1 lab	67011fb761
8:105479149 DPYS A>G	8	105479149	105479149	A	G	DPYS	c.-1T>C	NM_001385.3	NP_001376.1:p.?	NC_000008.10:g.105479149A>G	(Likely) benign	1 lab	f4d227d2bf
16:2138466 TSC2 A>ACT	16	2138466	2138469	A	ACT	TSC2	c.5281_5282dup	NM_000548.3	NP_000539.2:p.(Asn1762ProfsTer65)	NC_000016.9:g.2138468_2138469dup	(Likely) pathogenic	1 lab	6701fa95b6
22:43026976 CYB5R3 G>A	22	43026976	43026976	G	A	CYB5R3	c.176C>T	NM_001129819.2	NP_001123291.1:p.(Ser59Leu)	NC_000022.10:g.43026976G>A	VUS	1 lab	670767b8ac
3:132196860 DNAJC13 T>G	3	132196860	132196860	T	G	DNAJC13	c.2585T>G	NM_015268.4	NP_056083.3:p.(Leu862Trp)	NC_000003.11:g.132196860T>G	VUS	1 lab	67086a0e7d
1:236228221 NID1 G>A	1	236228221	236228221	G	A	NID1	c.159C>T	NM_002508.2	NP_002499.2:p.(Val53=)	NC_000001.10:g.236228221G>A	(Likely) benign	1 lab	670e1e0b7a
17:72838653 MISSING C>T	17	72838653	72838653	C	T	MISSING				NC_000017.10:g.72838653C>T	(Likely) benign	1 lab	670eb7dd97
2:56149537 EFEMP1 C>A	2	56149537	56149537	C	A	EFEMP1	c.39G>T	NM_001039348.2	NP_001034437.1:p.(Ala13=)	NC_000002.11:g.56149537C>A	(Likely) benign	1 lab	671385753b
1:247264152 ZNF669 C>T	1	247264152	247264152	C	T	ZNF669	c.919G>A	NM_024804.2	NP_079080.2:p.(Glu307Lys)	NC_000001.10:g.247264152C>T	(Likely) benign	1 lab	6713b19186
22:32210970 DEPDC5 C>A	22	32210970	32210970	C	A	DEPDC5	c.1446-8C>A	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32210970C>A	VUS	1 lab	67158e0c0a
8:119941108 TNFRSF11B G>A	8	119941108	119941108	G	A	TNFRSF11B	c.461C>T	NM_002546.3	NP_002537.3:p.(Thr154Met)	NC_000008.10:g.119941108G>A	VUS	1 lab	67169296a6
3:142171966 ATR T>C	3	142171966	142171966	T	C	ATR	c.7761+4A>G	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142171966T>C	(Likely) benign	1 lab	f4d41dcbac
Y:14952435 USP9Y CA>C	Y	14952435	14952439	CA	C	USP9Y	c.5987del	NM_004654.4	NP_004645.2:p.(Asn1996MetfsTer2)	NC_000024.9:g.14952439del	(Likely) pathogenic	1 lab	6718667d9a
6:144747588 UTRN C>G	6	144747588	144747588	C	G	UTRN	c.571C>G	NM_007124.2	NP_009055.2:p.(Arg191Gly)	NC_000006.11:g.144747588C>G	(Likely) benign	1 lab	671bbe706b
X:23018247 DDX53 A>G	X	23018247	23018247	A	G	DDX53	c.73A>G	NM_182699.3	NP_874358.2:p.(Arg25Gly)	NC_000023.10:g.23018247A>G	(Likely) benign	1 lab	671e332176
11:111706923 ALG9 T>C	11	111706923	111706923	T	C	ALG9	c.958A>G	NM_001352422.1	NP_001339351.1:p.(Met320Val)	NC_000011.9:g.111706923T>C	VUS	1 lab	671e4ce72d
20:3209869 SLC4A11 C>T	20	3209869	3209869	C	T	SLC4A11	c.2019G>A	NM_001174090.1	NP_001167561.1:p.(Ala673=)	NC_000020.10:g.3209869C>T	(Likely) benign	1 lab	671fc73334
17:29496926 NF1 T>TTG	17	29496926	29496928	T	TTG	NF1	c.498_499insGT	NM_000267.3	NP_000258.1:p.(Cys167ValfsTer12)	NC_000017.10:g.29496927_29496928insGT	(Likely) pathogenic	1 lab	6722d0a6ec
4:3430406 RGS12 A>T	4	3430406	3430406	A	T	RGS12	c.3533A>T	NM_002926.3	NP_002917.1:p.(Lys1178Ile)	NC_000004.11:g.3430406A>T	VUS	1 lab	6723cdedf2
1:6512152 ESPN G>A	1	6512152	6512152	G	A	ESPN	c.2321G>A	NM_031475.3	NP_113663.2:p.(Arg774Gln)	NC_000001.10:g.6512152G>A	VUS	1 lab	672438d92e
3:195491937 MUC4 C>T	3	195491937	195491937	C	T	MUC4	c.13855G>A	NM_018406.6	NP_060876.5:p.(Val4619Met)	NC_000003.11:g.195491937C>T	VUS	1 lab	6725cb2bf3
X:32509399 DMD A>G	X	32509399	32509399	A	G	DMD	c.2248T>C	NM_004010.3	NP_004001.1:p.(Cys750Arg)	NC_000023.10:g.32509399A>G	(Likely) benign	1 lab	6726263a83
X:153038806 PLXNB3 C>T	X	153038806	153038806	C	T	PLXNB3	c.3097C>T	NM_001163257.1	NP_001156729.1:p.(Arg1033Cys)	NC_000023.10:g.153038806C>T	(Likely) benign	1 lab	67286a3322
9:138678205 KCNT1 C>G	9	138678205	138678205	C	G	KCNT1	c.3340C>G	NM_020822.2	NP_065873.2:p.(Arg1114Gly)	NC_000009.11:g.138678205C>G	VUS	1 lab	6728c30b07
21:47847552 PCNT G>T	21	47847552	47847552	G	T	PCNT	c.7337G>T	NM_006031.5	NP_006022.3:p.(Cys2446Phe)	NC_000021.8:g.47847552G>T	(Likely) benign	1 lab	672b7ffedd
X:46360347 ZNF674 C>T	X	46360347	46360347	C	T	ZNF674	c.677G>A	NM_001039891.2	NP_001034980.1:p.(Cys226Tyr)	NC_000023.10:g.46360347C>T	VUS	1 lab	672c5855ec
X:102192408 RAB40AL C>T	X	102192408	102192408	C	T	RAB40AL	c.162C>T	NM_001031834.1	NP_001027004.1:p.(Thr54=)	NC_000023.10:g.102192408C>T	(Likely) benign	1 lab	672ce4b643
20:62319016 RTEL1 C>G	20	62319016	62319016	C	G	RTEL1	c.1374C>G	NM_001283009.1	NP_001269938.1:p.(Phe458Leu)	NC_000020.10:g.62319016C>G	VUS	1 lab	672d4fe371
11:78614377 TENM4 C>T	11	78614377	78614377	C	T	TENM4	c.685G>A	NM_001098816.2	NP_001092286.2:p.(Ala229Thr)	NC_000011.9:g.78614377C>T	(Likely) benign	1 lab	67303de550
6:65098733 EYS CCTG>C	6	65098733	65098736	CCTG	C	EYS	c.5928-3_5928-1del	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65098734_65098736del	(Likely) pathogenic	1 lab	6730685331
1:3334474 PRDM16 T>G	1	3334474	3334474	T	G	PRDM16	c.2774T>G	NM_022114.3	NP_071397.3:p.(Leu925Arg)	NC_000001.10:g.3334474T>G	VUS	1 lab	673120d15f
7:100859222 PLOD3 G>C	7	100859222	100859222	G	C	PLOD3	c.582C>G	NM_001084.4	NP_001075.1:p.(Phe194Leu)	NC_000007.13:g.100859222G>C	VUS	1 lab	6731310a00
7:4826049 AP5Z1 A>G	7	4826049	4826049	A	G	AP5Z1	c.1301A>G	NM_014855.3	NP_055670.1:p.(Asn434Ser)	NC_000007.13:g.4826049A>G	(Likely) benign	1 lab	6733437e88
2:32463342 NLRC4 A>G	2	32463342	32463342	A	G	NLRC4	c.2380T>C	NM_021209.4	NP_067032.3:p.(Cys794Arg)	NC_000002.11:g.32463342A>G	(Likely) benign	1 lab	67337763a5
11:6646614 DCHS1 G>T	11	6646614	6646614	G	T	DCHS1				NC_000011.9:g.6646614G>T	(Likely) benign	1 lab	673385b91a
17:29552230 NF1 G>GGA	17	29552230	29552233	G	GGA	NF1	c.1965_1966dup	NM_000267.3	NP_000258.1:p.(Ala656GlufsTer33)	NC_000017.10:g.29552232_29552233dup	(Likely) pathogenic	1 lab	6733d2b9b9
22:38167666 TRIOBP C>T	22	38167666	38167666	C	T	TRIOBP	c.6859C>T	NM_001039141.2	NP_001034230.1:p.(Arg2287Cys)	NC_000022.10:g.38167666C>T	VUS	1 lab	67351c1098
9:126135856 CRB2 C>T	9	126135856	126135856	C	T	CRB2	c.3046C>T	NM_173689.6	NP_775960.4:p.(Arg1016Cys)	NC_000009.11:g.126135856C>T	VUS	1 lab	6735c4904a
1:235933582 LYST T>C	1	235933582	235933582	T	C	LYST	c.5800A>G	NM_001301365.1	NP_001288294.1:p.(Thr1934Ala)	NC_000001.10:g.235933582T>C	(Likely) benign	1 lab	6736c776a8
X:39922862 BCOR T>C	X	39922862	39922862	T	C	BCOR	c.3846A>G	NM_001123385.1	NP_001116857.1:p.(Gln1282=)	NC_000023.10:g.39922862T>C	VUS	1 lab	67380ec59a
17:79478120 ACTG1 C>T	17	79478120	79478120	C	T	ACTG1	c.817G>A	NM_001199954.2	NP_001186883.1:p.(Gly273Ser)	NC_000017.10:g.79478120C>T	VUS	1 lab	6738f18f74
12:111080167 TCTN1 A>G	12	111080167	111080167	A	G	TCTN1	c.770A>G	NM_001319681.1	NP_001306610.1:p.(Tyr257Cys)	NC_000012.11:g.111080167A>G	VUS	1 lab	673edd7bb6
14:77755172 POMT2 G>T	14	77755172	77755172	G	T	POMT2	c.1186C>A	NM_013382.5	NP_037514.2:p.(Pro396Thr)	NC_000014.8:g.77755172G>T	(Likely) benign	1 lab	673f3b1447
1:237780591 RYR2 C>T	1	237780591	237780591	C	T	RYR2	c.5721C>T	NM_001035.2	NP_001026.2:p.(Cys1907=)	NC_000001.10:g.237780591C>T	(Likely) benign	1 lab	67405740d1
7:94259121 SGCE G>A	7	94259121	94259121	G	A	SGCE	c.142C>T	NM_001099401.1	NP_001092871.1:p.(Arg48Trp)	NC_000007.13:g.94259121G>A	VUS	1 lab	6740bfd03a
1:150532561 ADAMTSL4 A>G	1	150532561	150532561	A	G	ADAMTSL4	c.3183A>G	NM_001288608.1	NP_001275537.1:p.(Pro1061=)	NC_000001.10:g.150532561A>G	(Likely) benign	1 lab	67424e2ab1
11:64504246 RASGRP2 G>A	11	64504246	64504246	G	A	RASGRP2	c.1074C>T	NM_153819.1	NP_722541.1:p.(Pro358=)	NC_000011.9:g.64504246G>A	(Likely) benign	1 lab	67458704f6
21:45750645 CFAP410 T>C	21	45750645	45750645	T	C	CFAP410	c.700A>G	NM_001271441.1	NP_001258370.1:p.(Thr234Ala)	NC_000021.8:g.45750645T>C	(Likely) benign	1 lab	6745a5fb2b
X:21534716 CNKSR2 G>C	X	21534716	21534716	G	C	CNKSR2	c.924G>C	NM_014927.4	NP_055742.2:p.(Leu308=)	NC_000023.10:g.21534716G>C	(Likely) benign	1 lab	67467fbb45
6:33414426 SYNGAP1 T>G	6	33414426	33414426	T	G	SYNGAP1	c.3657T>G	NM_006772.2	NP_006763.2:p.(Tyr1219Ter)	NC_000006.11:g.33414426T>G	(Likely) pathogenic	1 lab	6748043502
11:102482620 MMP20 G>A	11	102482620	102482620	G	A	MMP20	c.389C>T	NM_004771.3	NP_004762.2:p.(Thr130Ile)	NC_000011.9:g.102482620G>A	(Likely) pathogenic	1 lab	674825a629
8:144995407 PLEC T>C	8	144995407	144995407	T	C	PLEC	c.8993A>G	NM_201380.3	NP_958782.1:p.(Asn2998Ser)	NC_000008.10:g.144995407T>C	(Likely) benign	1 lab	674887bd28
7:117431318 CTTNBP2 G>A	7	117431318	117431318	G	A	CTTNBP2	c.1932C>T	NM_033427.2	NP_219499.1:p.(Pro644=)	NC_000007.13:g.117431318G>A	(Likely) benign	1 lab	674a706f13
6:143081436 HIVEP2 C>A	6	143081436	143081436	C	A	HIVEP2	c.5989G>T	NM_006734.3	NP_006725.3:p.(Glu1997Ter)	NC_000006.11:g.143081436C>A	(Likely) pathogenic	1 lab	674c9b32e2
6:107040095 RTN4IP1 G>A	6	107040095	107040095	G	A	RTN4IP1	c.750C>T	NM_032730.5	NP_116119.2:p.(Asp250=)	NC_000006.11:g.107040095G>A	(Likely) benign	1 lab	674db3d0d4
16:90097734 DRC4 G>T	16	90097734	90097734	G	T	DRC4	c.43G>T	NM_001286209.1	NP_001273138.1:p.(Glu15Ter)	NC_000016.9:g.90097734G>T	(Likely) pathogenic	1 lab	674fea3aac
X:12725752 FRMPD4 C>G	X	12725752	12725752	C	G	FRMPD4	c.1452C>G	NM_014728.3	NP_055543.2:p.(Leu484=)	NC_000023.10:g.12725752C>G	(Likely) benign	1 lab	6752073ab5
15:23892380 MAGEL2 G>C	15	23892380	23892380	G	C	MAGEL2	c.510C>G	NM_019066.4	NP_061939.3:p.(Ala170=)	NC_000015.9:g.23892380G>C	(Likely) benign	1 lab	675257dbef
7:21824122 DNAH11 G>A	7	21824122	21824122	G	A	DNAH11				NC_000007.13:g.21824122G>A	(Likely) benign	1 lab	67556c6b70
21:46925323 COL18A1 GAA>G	21	46925323	46925325	GAA	G	COL18A1	c.3066_3067del	NM_001379500.1	NP_001366429.1:p.(Thr1023HisfsTer63)	NC_000021.8:g.46925324_46925325del	(Likely) pathogenic	1 lab	67558dff1f
7:12620812 SCIN A>G	7	12620812	12620812	A	G	SCIN	c.482A>G	NM_001112706.3	NP_001106177.1:p.(Asn161Ser)	NC_000007.13:g.12620812A>G	VUS	1 lab	6759bfea52
14:74971852 LTBP2 C>T	14	74971852	74971852	C	T	LTBP2	c.4203G>A	NM_000428.2	NP_000419.1:p.(Thr1401=)	NC_000014.8:g.74971852C>T	(Likely) benign	1 lab	675c1d46af
3:142285060 ATR G>A	3	142285060	142285060	G	A	ATR	c.195C>T	NM_001184.3	NP_001175.2:p.(Ser65=)	NC_000003.11:g.142285060G>A	(Likely) benign	1 lab	675c95250c
9:34372895 MYORG C>T	9	34372895	34372895	C	T	MYORG	c.47G>A	NM_020702.5	NP_065753.2:p.(Arg16His)	NC_000009.11:g.34372895C>T	(Likely) benign	1 lab	6761dc6fde
8:10467086 RP1L1 A>T	8	10467086	10467086	A	T	RP1L1	c.4522T>A	NM_178857.5	NP_849188.4:p.(Cys1508Ser)	NC_000008.10:g.10467086A>T	(Likely) benign	1 lab	67624d7352
3:9959650 IL17RC G>A	3	9959650	9959650	G	A	IL17RC	c.384G>A	NM_153461.3	NP_703191.1:p.(Pro128=)	NC_000003.11:g.9959650G>A	(Likely) benign	1 lab	6762e40bef
14:93154411 RIN3 C>G	14	93154411	93154411	C	G	RIN3	c.2772C>G	NM_024832.5	NP_079108.3:p.(Phe924Leu)	NC_000014.8:g.93154411C>G	VUS	1 lab	676309b506
9:131866527 CRAT T>A	9	131866527	131866527	T	A	CRAT	c.287A>T	NM_001257363.2	NP_001244292.1:p.(Tyr96Phe)	NC_000009.11:g.131866527T>A	(Likely) benign	1 lab	6765650717
11:65367010 MAP3K11 C>G	11	65367010	65367010	C	G	MAP3K11	c.2061G>C	NM_002419.4	NP_002410.1:p.(Pro687=)	NC_000011.9:g.65367010C>G	(Likely) benign	1 lab	676651bbff
3:9934941 JAGN1 C>T	3	9934941	9934941	C	T	JAGN1	c.432C>T	NM_032492.4	NP_115881.3:p.(Ala144=)	NC_000003.11:g.9934941C>T	(Likely) benign	1 lab	6766d0f298
14:53619480 DDHD1 T>TGCCGCC	14	53619480	53619494	T	TGCCGCC	DDHD1	c.331_336dup	NM_001160148.2	NP_001153620.1:p.(Gly111_Gly112dup)	NC_000014.8:g.53619489_53619494dup	(Likely) benign	1 lab	f4dafb9fc2
7:137531288 DGKI C>G	7	137531288	137531288	C	G	DGKI	c.321G>C	NM_004717.3	NP_004708.1:p.(Ala107=)	NC_000007.13:g.137531288C>G	(Likely) benign	1 lab	67693a2931
9:135942575 CEL C>T	9	135942575	135942575	C	T	CEL	c.887C>T	NM_001807.4	NP_001798.2:p.(Pro296Leu)	NC_000009.11:g.135942575C>T	VUS	1 lab	6769671639
6:152651656 SYNE1 C>T	6	152651656	152651656	C	T	SYNE1	c.14164G>A	NM_182961.3	NP_892006.3:p.(Glu4722Lys)	NC_000006.11:g.152651656C>T	(Likely) benign	1 lab	6769d1f935
X:12725042 FRMPD4 CT>C	X	12725042	12725060	CT	C	FRMPD4	c.1287+26del	NM_001368397.1	NP_001355326.1:p.?	NC_000023.10:g.12725060del	(Likely) benign	1 lab	676a498f7f
2:238280443 COL6A3 G>A	2	238280443	238280443	G	A	COL6A3	c.4217C>T	NM_004369.3	NP_004360.2:p.(Thr1406Met)	NC_000002.11:g.238280443G>A	(Likely) benign	1 lab	676d2058ba
7:1510281 INTS1 C>T	7	1510281	1510281	C	T	INTS1	c.6505G>A	NM_001080453.3	NP_001073922.2:p.(Gly2169Ser)	NC_000007.13:g.1510281C>T	(Likely) benign	1 lab	676dd32634
1:152285871 FLG G>A	1	152285871	152285871	G	A	FLG	c.1491C>T	NM_002016.1	NP_002007.1:p.(His497=)	NC_000001.10:g.152285871G>A	(Likely) benign	1 lab	676ed0f894
17:29490208 NF1 CA>C	17	29490208	29490211	CA	C	NF1	c.296del	NM_001042492.3	NP_001035957.1:p.(Lys99ArgfsTer4)	NC_000017.10:g.29490211del	(Likely) pathogenic	1 lab	6771cea78b
1:39696864 MACF1 C>T	1	39696864	39696864	C	T	MACF1	c.231C>T	NM_012090.5	NP_036222.3:p.(Asp77=)	NC_000001.10:g.39696864C>T	(Likely) benign	1 lab	6772508df9
9:140708914 EHMT1 G>C	9	140708914	140708914	G	C	EHMT1	c.3212G>C	NM_024757.4	NP_079033.4:p.(Ser1071Thr)	NC_000009.11:g.140708914G>C	VUS	1 lab	6773362ef1
19:55327963 KIR3DL1 T>G	19	55327963	55327963	T	G	KIR3DL1				NC_000019.9:g.55327963T>G	VUS	1 lab	6773530aad
10:73462430 CDH23 G>A	10	73462430	73462430	G	A	CDH23	c.2712G>A	NM_022124.5	NP_071407.4:p.(Pro904=)	NC_000010.10:g.73462430G>A	(Likely) benign	1 lab	6773df7b4b
2:128341722 MYO7B G>A	2	128341722	128341722	G	A	MYO7B	c.1369G>A	NM_001080527.1	NP_001073996.1:p.(Ala457Thr)	NC_000002.11:g.128341722G>A	(Likely) benign	1 lab	6773e792c1
14:74960999 ISCA2 G>A	14	74960999	74960999	G	A	ISCA2	c.196G>A	NM_194279.3	NP_919255.2:p.(Gly66Arg)	NC_000014.8:g.74960999G>A	VUS	1 lab	6775abef93
9:123298762 CDK5RAP2 C>T	9	123298762	123298762	C	T	CDK5RAP2	c.550G>A	NM_018249.5	NP_060719.4:p.(Gly184Arg)	NC_000009.11:g.123298762C>T	(Likely) benign	1 lab	67778aa29b
5:52379277 ITGA2 C>T	5	52379277	52379277	C	T	ITGA2	c.3252C>T	NM_002203.4	NP_002194.2:p.(Phe1084=)	NC_000005.9:g.52379277C>T	(Likely) benign	1 lab	f4db50931e
10:78637589 KCNMA1 G>T	10	78637589	78637589	G	T	KCNMA1	c.*38C>A	NM_001322830.2	NP_001309759.1:p.?	NC_000010.10:g.78637589G>T	VUS	1 lab	f4e29210af
5:16565889 RETREG1 C>A	5	16565889	16565889	C	A	RETREG1	c.441G>T	NM_001034850.2	NP_001030022.1:p.(Trp147Cys)	NC_000005.9:g.16565889C>A	VUS	1 lab	6778cbe51b
16:2113009 TSC2 G>A	16	2113009	2113009	G	A	TSC2	c.1398G>A	NM_001114382.2	NP_001107854.1:p.(Leu466=)	NC_000016.9:g.2113009G>A	(Likely) benign	1 lab	67798b2633
5:37164385 CPLANE1 G>A	5	37164385	37164385	G	A	CPLANE1	c.7578C>T	NM_023073.3	NP_075561.3:p.(Asp2526=)	NC_000005.9:g.37164385G>A	(Likely) benign	1 lab	677cd3e801
5:149769589 TCOF1 A>G	5	149769589	149769589	A	G	TCOF1	c.3183+3A>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149769589A>G	(Likely) benign	1 lab	677ee32e98
14:24709963 TINF2 A>T	14	24709963	24709963	A	T	TINF2	c.723T>A	NM_012461.2	NP_036593.2:p.(Pro241=)	NC_000014.8:g.24709963A>T	(Likely) benign	1 lab	677ffc65a2
7:100647300 MUC12 C>T	7	100647300	100647300	C	T	MUC12	c.13456C>T	NM_001164462.1	NP_001157934.1:p.(Arg4486Cys)	NC_000007.13:g.100647300C>T	VUS	1 lab	678273720f
1:147230853 GJA5 A>G	1	147230853	147230853	A	G	GJA5	c.494T>C	NM_005266.6	NP_005257.2:p.(Val165Ala)	NC_000001.10:g.147230853A>G	VUS	1 lab	678e60484f
5:140595135 PCDHB13 A>G	5	140595135	140595135	A	G	PCDHB13	c.1440A>G	NM_018933.3	NP_061756.1:p.(Ser480=)	NC_000005.9:g.140595135A>G	(Likely) benign	1 lab	678291252d
1:39917864 MACF1 G>A	1	39917864	39917864	G	A	MACF1	c.14278G>A	NM_012090.5	NP_036222.3:p.(Val4760Ile)	NC_000001.10:g.39917864G>A	(Likely) benign	1 lab	678305f6f5
2:233712239 GIGYF2 GCAGCAGCCGCCA>G	2	233712239	233712271	GCAGCAGCCGCCA	G	GIGYF2	c.3663_3674del	NM_001103146.3	NP_001096616.1:p.(Pro1222_Pro1225del)	NC_000002.11:g.233712260_233712271del	VUS	1 lab	6783388d80
X:70357094 MED12 C>T	X	70357094	70357094	C	T	MED12	c.5609C>T	NM_005120.2	NP_005111.2:p.(Thr1870Ile)	NC_000023.10:g.70357094C>T	VUS	1 lab	67837c8c9f
5:90106775 ADGRV1 T>C	5	90106775	90106775	T	C	ADGRV1	c.15698T>C	NM_032119.4	NP_115495.3:p.(Met5233Thr)	NC_000005.9:g.90106775T>C	(Likely) benign	1 lab	67850ae871
1:197091304 ASPM T>C	1	197091304	197091304	T	C	ASPM	c.3726A>G	NM_018136.4	NP_060606.3:p.(Thr1242=)	NC_000001.10:g.197091304T>C	(Likely) benign	1 lab	67857ab2bd
6:43572363 POLH A>G	6	43572363	43572363	A	G	POLH	c.896A>G	NM_006502.2	NP_006493.1:p.(Tyr299Cys)	NC_000006.11:g.43572363A>G	VUS	1 lab	6787b4db03
X:123019692 XIAP C>A	X	123019692	123019692	C	A	XIAP	c.180C>A	NM_001167.3	NP_001158.2:p.(Thr60=)	NC_000023.10:g.123019692C>A	(Likely) benign	1 lab	6787f6be10
1:152280204 FLG G>A	1	152280204	152280204	G	A	FLG	c.7158C>T	NM_002016.1	NP_002007.1:p.(His2386=)	NC_000001.10:g.152280204G>A	(Likely) benign	1 lab	6789007825
17:78093133 GAA G>A	17	78093133	78093133	G	A	GAA	c.*3G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78093133G>A	(Likely) benign	1 lab	678cd19563
8:117864217 RAD21 A>G	8	117864217	117864217	A	G	RAD21	c.1440T>C	NM_006265.2	NP_006256.1:p.(Ala480=)	NC_000008.10:g.117864217A>G	(Likely) benign	1 lab	678d58ee4c
9:137630600 COL5A1 C>T	9	137630600	137630600	C	T	COL5A1	c.1440C>T	NM_000093.4	NP_000084.3:p.(Pro480=)	NC_000009.11:g.137630600C>T	(Likely) benign	1 lab	678d6756bc
16:22546505 NPIPB5 G>T	16	22546505	22546505	G	T	NPIPB5	c.2201G>T	NM_001135865.1	NP_001129337.1:p.(Arg734Ile)	NC_000016.9:g.22546505G>T	(Likely) benign	1 lab	678f7769d8
17:29654559 NF1 A>G	17	29654559	29654559	A	G	NF1	c.5248A>G	NM_000267.3	NP_000258.1:p.(Lys1750Glu)	NC_000017.10:g.29654559A>G	(Likely) pathogenic	1 lab	679040d49e
16:2153785 PKD1 G>A	16	2153785	2153785	G	A	PKD1	c.8273C>T	NM_001009944.2	NP_001009944.2:p.(Ala2758Val)	NC_000016.9:g.2153785G>A	(Likely) benign	1 lab	6790f2f202
20:3209353 SLC4A11 C>G	20	3209353	3209353	C	G	SLC4A11	c.2322G>C	NM_001174090.1	NP_001167561.1:p.(Thr774=)	NC_000020.10:g.3209353C>G	VUS	1 lab	67919ec156
X:3238372 MXRA5 G>A	X	3238372	3238372	G	A	MXRA5	c.5354C>T	NM_015419.3	NP_056234.2:p.(Pro1785Leu)	NC_000023.10:g.3238372G>A	VUS	1 lab	6791c6c6e4
4:41270027 UCHL1 A>G	4	41270027	41270027	A	G	UCHL1	c.609A>G	NM_004181.4	NP_004172.2:p.(Glu203=)	NC_000004.11:g.41270027A>G	(Likely) benign	1 lab	67936a25ca
2:51259112 NRXN1 T>G	2	51259112	51259112	T	G	NRXN1	c.-922+7A>C	NM_001135659.2	NP_001129131.1:p.?	NC_000002.11:g.51259112T>G	(Likely) benign	1 lab	67937128b6
2:208992979 CRYGC C>T	2	208992979	208992979	C	T	CRYGC	c.473G>A	NM_020989.3	NP_066269.1:p.(Gly158Glu)	NC_000002.11:g.208992979C>T	VUS	1 lab	6795111802
1:7805981 CAMTA1 G>A	1	7805981	7805981	G	A	CAMTA1	c.4447G>A	NM_015215.3	NP_056030.1:p.(Ala1483Thr)	NC_000001.10:g.7805981G>A	(Likely) benign	1 lab	67964c521d
2:238280706 COL6A3 G>A	2	238280706	238280706	G	A	COL6A3	c.3954C>T	NM_004369.3	NP_004360.2:p.(Tyr1318=)	NC_000002.11:g.238280706G>A	(Likely) benign	1 lab	6796ecee23
22:50900994 SBF1 G>C	22	50900994	50900994	G	C	SBF1	c.2121C>G	NM_002972.3	NP_002963.2:p.(Pro707=)	NC_000022.10:g.50900994G>C	(Likely) benign	1 lab	679a654bc8
7:148921444 ZNF282 A>T	7	148921444	148921444	A	T	ZNF282	c.1721A>T	NM_003575.4	NP_003566.1:p.(Tyr574Phe)	NC_000007.13:g.148921444A>T	VUS	1 lab	679beb13ac
7:92120651 PEX1 T>A	7	92120651	92120651	T	A	PEX1	c.2749A>T	NM_001282678.1	NP_001269607.1:p.(Met917Leu)	NC_000007.13:g.92120651T>A	(Likely) benign	1 lab	679cd4f4b1
13:78493653 EDNRB G>T	13	78493653	78493653	G	T	EDNRB	c.98C>A	NM_001201397.1	NP_001188326.1:p.(Pro33His)	NC_000013.10:g.78493653G>T	VUS	1 lab	679d1b9e51
X:66941694 AR C>T	X	66941694	66941694	C	T	AR	c.2338C>T	NM_000044.4	NP_000035.2:p.(Arg780Trp)	NC_000023.10:g.66941694C>T	(Likely) pathogenic	1 lab	679de2106a
18:67802449 RTTN T>C	18	67802449	67802449	T	C	RTTN	c.2856A>G	NM_173630.3	NP_775901.3:p.(Leu952=)	NC_000018.9:g.67802449T>C	(Likely) benign	1 lab	679eb2d258
6:33140889 COL11A2 C>A	6	33140889	33140889	C	A	COL11A2	c.2738G>T	NM_080680.2	NP_542411.2:p.(Gly913Val)	NC_000006.11:g.33140889C>A	(Likely) pathogenic	1 lab	679eca6eda
1:2319720 MORN1 C>T	1	2319720	2319720	C	T	MORN1	c.205G>A	NM_024848.3	NP_079124.1:p.(Gly69Arg)	NC_000001.10:g.2319720C>T	VUS	1 lab	679feeee11
2:98351929 ZAP70 G>A	2	98351929	98351929	G	A	ZAP70	c.1289+10G>A	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98351929G>A	VUS	1 lab	67a0b0304c
5:1443254 SLC6A3 T>A	5	1443254	1443254	T	A	SLC6A3	c.59A>T	NM_001044.4	NP_001035.1:p.(Glu20Val)	NC_000005.9:g.1443254T>A	VUS	1 lab	67a128c5dc
10:102016035 CWF19L1 T>C	10	102016035	102016035	T	C	CWF19L1	c.77A>G	NM_001303405.1	NP_001290334.1:p.(Asn26Ser)	NC_000010.10:g.102016035T>C	(Likely) benign	1 lab	67a2754b15
2:170089955 LRP2 C>T	2	170089955	170089955	C	T	LRP2	c.5064G>A	NM_004525.3	NP_004516.2:p.(Gly1688=)	NC_000002.11:g.170089955C>T	(Likely) benign	1 lab	67a3238ca0
1:152280161 FLG G>A	1	152280161	152280161	G	A	FLG	c.7201C>T	NM_002016.1	NP_002007.1:p.(Arg2401Cys)	NC_000001.10:g.152280161G>A	VUS	1 lab	67a6332d4b
11:66483325 SPTBN2 G>A	11	66483325	66483325	G	A	SPTBN2	c.285C>T	NM_006946.3	NP_008877.1:p.(Leu95=)	NC_000011.9:g.66483325G>A	(Likely) benign	1 lab	67a939be78
X:47084032 CDK16 C>T	X	47084032	47084032	C	T	CDK16	c.370C>T	NM_033018.3	NP_148978.2:p.(Leu124=)	NC_000023.10:g.47084032C>T	(Likely) benign	1 lab	67acd0c832
20:25059442 VSX1 C>T	20	25059442	25059442	C	T	VSX1	c.650G>A	NM_199425.3	NP_955457.1:p.(Arg217His)	NC_000020.10:g.25059442C>T	(Likely) benign	1 lab	f4e8aea66d
9:133065237 HMCN2 C>T	9	133065237	133065237	C	T	HMCN2	c.1378C>T	NM_001291815.2	NP_001278744.1:p.(Leu460=)	NC_000009.11:g.133065237C>T	(Likely) benign	1 lab	67ae8fc5c8
7:64166804 ZNF107 A>C	7	64166804	64166804	A	C	ZNF107	c.122A>C	NM_016220.4	NP_057304.1:p.(Asn41Thr)	NC_000007.13:g.64166804A>C	(Likely) benign	1 lab	67b00f5941
5:37227000 CPLANE1 A>G	5	37227000	37227000	A	G	CPLANE1	c.1697T>C	NM_023073.3	NP_075561.3:p.(Ile566Thr)	NC_000005.9:g.37227000A>G	(Likely) benign	1 lab	67b16f15f0
7:21906171 DNAH11 C>T	7	21906171	21906171	C	T	DNAH11				NC_000007.13:g.21906171C>T	(Likely) benign	1 lab	67b3032bce
6:146625888 GRM1 G>A	6	146625888	146625888	G	A	GRM1	c.1092G>A	NM_001278065.1	NP_001264994.1:p.(Arg364=)	NC_000006.11:g.146625888G>A	(Likely) benign	1 lab	67b37111a4
22:40759035 ADSL C>T	22	40759035	40759035	C	T	ADSL	c.1061C>T	NM_000026.3	NP_000017.1:p.(Thr354Met)	NC_000022.10:g.40759035C>T	VUS	1 lab	67b7b78d49
15:48787771 FBN1 C>T	15	48787771	48787771	C	T	FBN1	c.2434G>A	NM_000138.4	NP_000129.3:p.(Glu812Lys)	NC_000015.9:g.48787771C>T	VUS	1 lab	67b8b13e4c
16:4387234 GLIS2 G>A	16	4387234	4387234	G	A	GLIS2	c.1284G>A	NM_001318918.1	NP_001305847.1:p.(Leu428=)	NC_000016.9:g.4387234G>A	(Likely) benign	1 lab	67b8da10b2
21:19687574 TMPRSS15 C>T	21	19687574	19687574	C	T	TMPRSS15	c.1922-1G>A	NM_002772.2	NP_002763.2:p.?	NC_000021.8:g.19687574C>T	(Likely) pathogenic	1 lab	67b9bcdd01
14:76966275 ESRRB T>C	14	76966275	76966275	T	C	ESRRB	c.1366T>C	NM_004452.3	NP_004443.3:p.(Phe456Leu)	NC_000014.8:g.76966275T>C	(Likely) benign	1 lab	67b9e2e185
20:47621681 ARFGEF2 T>G	20	47621681	47621681	T	G	ARFGEF2	c.3507T>G	NM_006420.2	NP_006411.2:p.(Leu1169=)	NC_000020.10:g.47621681T>G	(Likely) benign	1 lab	67ba1f71f4
15:30906204 GOLGA8H G>A	15	30906204	30906204	G	A	GOLGA8H	c.1518G>A	NM_001282490.1	NP_001269419.1:p.(Ala506=)	NC_000015.9:g.30906204G>A	(Likely) benign	1 lab	67bc28e336
1:154401858 IL6R C>T	1	154401858	154401858	C	T	IL6R	c.272C>T	NM_000565.3	NP_000556.1:p.(Ser91Phe)	NC_000001.10:g.154401858C>T	VUS	1 lab	67bc65a4ad
X:128695222 OCRL G>A	X	128695222	128695222	G	A	OCRL	c.891G>A	NM_000276.3	NP_000267.2:p.(Trp297Ter)	NC_000023.10:g.128695222G>A	(Likely) pathogenic	1 lab	67bcbf6a16
1:34631396 CSMD2 C>T	1	34631396	34631396	C	T	CSMD2	c.19G>A	NM_052896.4	NP_443128.2:p.(Ala7Thr)	NC_000001.10:g.34631396C>T	(Likely) benign	1 lab	67bcff19c0
6:157522004 ARID1B C>T	6	157522004	157522004	C	T	ARID1B	c.4276C>T	NM_020732.3	NP_065783.3:p.(Pro1426Ser)	NC_000006.11:g.157522004C>T	VUS	1 lab	67bd53e4cd
1:224585892 WDR26 C>A	1	224585892	224585892	C	A	WDR26	c.1681G>T	NM_025160.7	NP_079436.4:p.(Val561Leu)	NC_000001.10:g.224585892C>A	VUS	1 lab	f4eb457dba
9:140036470 GRIN1 C>T	9	140036470	140036470	C	T	GRIN1	c.264C>T	NM_007327.3	NP_015566.1:p.(Tyr88=)	NC_000009.11:g.140036470C>T	(Likely) benign	1 lab	67bda8f56a
4:651130 PDE6B T>A	4	651130	651130	T	A	PDE6B	c.1258-10T>A	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.651130T>A	VUS	1 lab	6800a62204
3:30713603 TGFBR2 G>T	3	30713603	30713603	G	T	TGFBR2	c.1003G>T	NM_001024847.2	NP_001020018.1:p.(Ala335Ser)	NC_000003.11:g.30713603G>T	VUS	1 lab	67bee4151d
X:19431512 MAP3K15 C>T	X	19431512	19431512	C	T	MAP3K15	c.1661G>A	NM_001001671.3	NP_001001671.3:p.(Arg554Lys)	NC_000023.10:g.19431512C>T	(Likely) benign	1 lab	67c1144fa1
8:144998098 PLEC GCCT>G	8	144998098	144998108	GCCT	G	PLEC	c.5996_5998del	NM_201384.3	NP_958786.1:p.(Glu1999del)	NC_000008.10:g.144998106_144998108del	VUS	1 lab	67c1fac14c
14:23858720 MYH6 C>T	14	23858720	23858720	C	T	MYH6	c.3860G>A	NM_002471.3	NP_002462.2:p.(Gly1287Glu)	NC_000014.8:g.23858720C>T	VUS	1 lab	67c507345a
10:6054839 IL2RA A>G	10	6054839	6054839	A	G	IL2RA	c.815T>C	NM_000417.2	NP_000408.1:p.(Ile272Thr)	NC_000010.10:g.6054839A>G	(Likely) benign	1 lab	67c673d5bc
3:9965602 IL17RC C>T	3	9965602	9965602	C	T	IL17RC	c.873C>T	NM_153461.3	NP_703191.1:p.(Asn291=)	NC_000003.11:g.9965602C>T	(Likely) benign	1 lab	67ca2a6f2b
16:14700385 PARN T>C	16	14700385	14700385	T	C	PARN	c.660-2A>G	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14700385T>C	(Likely) pathogenic	1 lab	67cb39c8cb
X:117861629 IL13RA1 C>T	X	117861629	117861629	C	T	IL13RA1	c.28C>T	NM_001560.2	NP_001551.1:p.(Leu10=)	NC_000023.10:g.117861629C>T	(Likely) benign	1 lab	67cb5769b2
9:14307408 NFIB G>A	9	14307408	14307408	G	A	NFIB	c.142C>T	NM_001190737.2	NP_001177666.1:p.(Arg48Ter)	NC_000009.11:g.14307408G>A	VUS	1 lab	67cb9cc928
16:27689169 KATNIP G>A	16	27689169	27689169	G	A	KATNIP	c.660G>A	NM_015202.3	NP_056017.3:p.(Pro220=)	NC_000016.9:g.27689169G>A	(Likely) benign	1 lab	67cc69bb19
21:46900710 COL18A1 G>A	21	46900710	46900710	G	A	COL18A1	c.2794G>A	NM_130444.3	NP_569711.2:p.(Gly932Arg)	NC_000021.8:g.46900710G>A	VUS	1 lab	67cd05e939
22:38153699 TRIOBP G>A	22	38153699	38153699	G	A	TRIOBP	c.5767G>A	NM_001039141.2	NP_001034230.1:p.(Ala1923Thr)	NC_000022.10:g.38153699G>A	(Likely) benign	1 lab	67cd2ebe45
1:41298744 KCNQ4 C>T	1	41298744	41298744	C	T	KCNQ4	c.1572C>T	NM_004700.3	NP_004691.2:p.(Asp524=)	NC_000001.10:g.41298744C>T	(Likely) benign	1 lab	67cdf37d6b
5:138356928 SIL1 A>G	5	138356928	138356928	A	G	SIL1	c.699T>C	NM_001037633.1	NP_001032722.1:p.(Asn233=)	NC_000005.9:g.138356928A>G	(Likely) benign	1 lab	67ce957aee
13:35738625 NBEA C>T	13	35738625	35738625	C	T	NBEA	c.4212C>T	NM_015678.4	NP_056493.3:p.(Leu1404=)	NC_000013.10:g.35738625C>T	(Likely) benign	1 lab	67d049b49a
2:179422959 TTN G>A	2	179422959	179422959	G	A	TTN	c.87122C>T	NM_001267550.1	NP_001254479.1:p.(Pro29041Leu)	NC_000002.11:g.179422959G>A	VUS	1 lab	67d06f6b29
5:1293801 TERT G>A	5	1293801	1293801	G	A	TERT	c.1200C>T	NM_198253.2	NP_937983.2:p.(His400=)	NC_000005.9:g.1293801G>A	(Likely) benign	1 lab	67d15501c3
X:99662809 PCDH19 T>C	X	99662809	99662809	T	C	PCDH19	c.787A>G	NM_001184880.1	NP_001171809.1:p.(Ser263Gly)	NC_000023.10:g.99662809T>C	VUS	1 lab	67d1e6ade8
8:145737651 RECQL4 G>A	8	145737651	145737651	G	A	RECQL4	c.3112C>T	NM_004260.3	NP_004251.3:p.(Arg1038Cys)	NC_000008.10:g.145737651G>A	VUS	1 lab	67d418df7d
2:179444686 TTN C>T	2	179444686	179444686	C	T	TTN	c.67328G>A	NM_001267550.1	NP_001254479.1:p.(Arg22443His)	NC_000002.11:g.179444686C>T	VUS	1 lab	67d4404c29
7:2565210 LFNG C>T	7	2565210	2565210	C	T	LFNG	c.735+9C>T	NM_001040167.2	NP_001035257.1:p.?	NC_000007.13:g.2565210C>T	(Likely) benign	1 lab	67d7204ec5
5:150925820 FAT2 T>C	5	150925820	150925820	T	C	FAT2	c.4868A>G	NM_001447.2	NP_001438.1:p.(His1623Arg)	NC_000005.9:g.150925820T>C	(Likely) benign	1 lab	67d745364c
12:120295510 CIT AG>A	12	120295510	120295511	AG	A	CIT	c.239-9del	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120295511del	(Likely) benign	1 lab	67d7e4fa6b
10:102256946 SEC31B C>T	10	102256946	102256946	C	T	SEC31B	c.2082G>A	NM_015490.4	NP_056305.1:p.(Arg694=)	NC_000010.10:g.102256946C>T	(Likely) benign	1 lab	67d939e256
X:25031487 ARX C>T	X	25031487	25031487	C	T	ARX	c.625G>A	NM_139058.2	NP_620689.1:p.(Gly209Ser)	NC_000023.10:g.25031487C>T	(Likely) benign	1 lab	67d942f933
14:77793212 GSTZ1 G>A	14	77793212	77793212	G	A	GSTZ1	c.99G>A	NM_145871.2	NP_665878.2:p.(Thr33=)	NC_000014.8:g.77793212G>A	(Likely) benign	1 lab	67d9832917
X:17040261 REPS2 G>A	X	17040261	17040261	G	A	REPS2	c.413G>A	NM_004726.2	NP_004717.2:p.(Arg138His)	NC_000023.10:g.17040261G>A	VUS	1 lab	67dd58431f
10:13337608 PHYH T>C	10	13337608	13337608	T	C	PHYH	c.-166-2A>G	NM_001323080.1	NP_001310009.1:p.?	NC_000010.10:g.13337608T>C	(Likely) pathogenic	1 lab	67dda36e68
7:150753863 CDK5 C>T	7	150753863	150753863	C	T	CDK5	c.215G>A	NM_004935.3	NP_004926.1:p.(Ser72Asn)	NC_000007.13:g.150753863C>T	VUS	1 lab	67de27b603
X:48652486 GATA1 T>C	X	48652486	48652486	T	C	GATA1	c.1157T>C	NM_002049.3	NP_002040.1:p.(Leu386Pro)	NC_000023.10:g.48652486T>C	(Likely) benign	1 lab	67def1facd
13:102568873 FGF14 G>A	13	102568873	102568873	G	A	FGF14	c.123C>T	NM_004115.3	NP_004106.1:p.(Asn41=)	NC_000013.10:g.102568873G>A	(Likely) benign	1 lab	67e0658cea
5:131930612 RAD50 AAAAAG>A	5	131930612	131930620	AAAAAG	A	RAD50	c.1849_1853del	NM_005732.4	NP_005723.2:p.(Arg617GlyfsTer13)	NC_000005.9:g.131930616_131930620del	(Likely) pathogenic	1 lab	67e1dd8ba0
19:8651349 ADAMTS10 C>G	19	8651349	8651349	C	G	ADAMTS10	c.2409G>C	NM_030957.3	NP_112219.3:p.(Leu803=)	NC_000019.9:g.8651349C>G	(Likely) benign	1 lab	67e222c609
15:91769533 SV2B G>A	15	91769533	91769533	G	A	SV2B	c.40G>A	NM_001323039.2	NP_001309968.1:p.(Ala14Thr)	NC_000015.9:g.91769533G>A	(Likely) benign	1 lab	67e342a766
20:60572701 TAF4 T>A	20	60572701	60572701	T	A	TAF4	c.2995A>T	NM_003185.4	NP_003176.2:p.(Met999Leu)	NC_000020.10:g.60572701T>A	VUS	1 lab	f4ed1d6ba9
19:50730212 MYH14 A>G	19	50730212	50730212	A	G	MYH14	c.863A>G	NM_001145809.1	NP_001139281.1:p.(Asn288Ser)	NC_000019.9:g.50730212A>G	VUS	1 lab	67e5e2bc0c
11:1785071 CTSD G>A	11	1785071	1785071	G	A	CTSD	c.19C>T	NM_001909.4	NP_001900.1:p.(Leu7=)	NC_000011.9:g.1785071G>A	(Likely) benign	1 lab	67e98b31cd
6:70408932 LMBRD1 T>G	6	70408932	70408932	T	G	LMBRD1	c.1338+3A>C	NM_018368.4	NP_060838.3:p.?	NC_000006.11:g.70408932T>G	VUS	1 lab	67e9b7bb9d
5:110428305 WDR36 C>T	5	110428305	110428305	C	T	WDR36	c.319C>T	NM_139281.2	NP_644810.1:p.(His107Tyr)	NC_000005.9:g.110428305C>T	VUS	1 lab	67ea98022f
5:37107789 CPLANE1 C>CTG	5	37107789	37107791	C	CTG	CPLANE1	c.9507_9508dup	NM_023073.3	NP_075561.3:p.(Ser3170ThrfsTer49)	NC_000005.9:g.37107790_37107791dup	(Likely) pathogenic	1 lab	67ead102da
X:117733146 DOCK11 G>C	X	117733146	117733146	G	C	DOCK11	c.2517G>C	NM_144658.3	NP_653259.3:p.(Gln839His)	NC_000023.10:g.117733146G>C	VUS	1 lab	67ebe25b6e
X:39932578 BCOR T>C	X	39932578	39932578	T	C	BCOR	c.2021A>G	NM_001123385.1	NP_001116857.1:p.(His674Arg)	NC_000023.10:g.39932578T>C	VUS	1 lab	67ec8c3d28
7:42085154 GLI3 G>A	7	42085154	42085154	G	A	GLI3	c.680-25C>T	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42085154G>A	(Likely) benign	1 lab	8f0ac856d7
17:29585392 NF1 AT>G	17	29585392	29585393	AT	G	NF1	c.4141_4142delinsG	NM_000267.3	NP_000258.1:p.(Ile1381AlafsTer4)	NC_000017.10:g.29585392_29585393delinsG	(Likely) pathogenic	1 lab	67ee59b523
6:152746658 SYNE1 G>T	6	152746658	152746658	G	T	SYNE1	c.5125C>A	NM_182961.3	NP_892006.3:p.(Gln1709Lys)	NC_000006.11:g.152746658G>T	(Likely) benign	1 lab	67f0d28aeb
19:41928532 BCKDHA A>G	19	41928532	41928532	A	G	BCKDHA	c.854-2A>G	NM_000709.3	NP_000700.1:p.?	NC_000019.9:g.41928532A>G	(Likely) pathogenic	1 lab	67f16e3f8a
22:27012260 CRYBB1 C>T	22	27012260	27012260	C	T	CRYBB1	c.24G>A	NM_001887.4	NP_001878.1:p.(Ser8=)	NC_000022.10:g.27012260C>T	(Likely) benign	1 lab	67f36c0863
1:19282597 IFFO2 C>T	1	19282597	19282597	C	T	IFFO2	c.230G>A	NM_001136265.2	NP_001129737.1:p.(Arg77His)	NC_000001.10:g.19282597C>T	VUS	1 lab	67f76bf1c6
19:50804996 MYH14 C>T	19	50804996	50804996	C	T	MYH14	c.5548C>T	NM_001145809.1	NP_001139281.1:p.(Arg1850Trp)	NC_000019.9:g.50804996C>T	VUS	1 lab	67f77ca91d
2:15615913 NBAS T>C	2	15615913	15615913	T	C	NBAS	c.1239A>G	NM_015909.3	NP_056993.2:p.(Ser413=)	NC_000002.11:g.15615913T>C	(Likely) benign	1 lab	67f790c340
9:140707606 EHMT1 G>A	9	140707606	140707606	G	A	EHMT1	c.3016G>A	NM_024757.4	NP_079033.4:p.(Val1006Met)	NC_000009.11:g.140707606G>A	(Likely) benign	1 lab	67f87a9e4f
16:67470637 HSD11B2 G>A	16	67470637	67470637	G	A	HSD11B2	c.949G>A	NM_000196.3	NP_000187.3:p.(Asp317Asn)	NC_000016.9:g.67470637G>A	VUS	1 lab	67f966ad7d
14:23855244 MYH6 C>T	14	23855244	23855244	C	T	MYH6	c.5056G>A	NM_002471.3	NP_002462.2:p.(Glu1686Lys)	NC_000014.8:g.23855244C>T	VUS	1 lab	67faba599e
18:19358120 MIB1 C>A	18	19358120	19358120	C	A	MIB1	c.693C>A	NM_020774.4	NP_065825.1:p.(Cys231Ter)	NC_000018.9:g.19358120C>A	(Likely) pathogenic	1 lab	f4ee2c0156
11:67414313 ACY3 C>T	11	67414313	67414313	C	T	ACY3	c.202G>A	NM_080658.2	NP_542389.1:p.(Asp68Asn)	NC_000011.9:g.67414313C>T	VUS	1 lab	6800b52b34
16:2114429 TSC2 G>T	16	2114429	2114429	G	T	TSC2	c.1599+1G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2114429G>T	(Likely) pathogenic	1 lab	68012b1d71
9:133920939 LAMC3 C>A	9	133920939	133920939	C	A	LAMC3	c.1411C>A	NM_006059.3	NP_006050.3:p.(Pro471Thr)	NC_000009.11:g.133920939C>A	(Likely) benign	1 lab	6801e368b9
3:128618171 ACAD9 G>A	3	128618171	128618171	G	A	ACAD9	c.675G>A	NM_014049.4	NP_054768.2:p.(Val225=)	NC_000003.11:g.128618171G>A	(Likely) benign	1 lab	6802003979
X:41075843 USP9X A>G	X	41075843	41075843	A	G	USP9X	c.6023A>G	NM_001039590.3	NP_001034679.2:p.(Glu2008Gly)	NC_000023.10:g.41075843A>G	VUS	1 lab	f4f124736c
2:204599589 CD28 A>G	2	204599589	204599589	A	G	CD28	c.326A>G	NM_001243077.2	NP_001230006.1:p.(Tyr109Cys)	NC_000002.11:g.204599589A>G	VUS	1 lab	f4f36af184
4:1347068 UVSSA CG>C	4	1347068	1347070	CG	C	UVSSA	c.803del	NM_020894.4	NP_065945.2:p.(Gly268AlafsTer47)	NC_000004.11:g.1347070del	(Likely) pathogenic	1 lab	6804cf916e
2:152387599 NEB T>C	2	152387599	152387599	T	C	NEB	c.21644A>G	NM_001271208.2	NP_001258137.2:p.(Glu7215Gly)	NC_000002.11:g.152387599T>C	VUS	1 lab	f4f47ecfb8
X:70360550 MED12 G>C	X	70360550	70360550	G	C	MED12	c.6110G>C	NM_005120.3	NP_005111.2:p.(Gly2037Ala)	NC_000023.10:g.70360550G>C	VUS	1 lab	f4f49a532a
22:37325684 CSF2RB G>A	22	37325684	37325684	G	A	CSF2RB	c.553G>A	NM_000395.2	NP_000386.1:p.(Ala185Thr)	NC_000022.10:g.37325684G>A	VUS	1 lab	68093f7ad8
1:46496839 MAST2 G>A	1	46496839	46496839	G	A	MAST2	c.2407G>A	NM_001324321.1	NP_001311250.1:p.(Gly803Ser)	NC_000001.10:g.46496839G>A	(Likely) benign	1 lab	680b41a0b5
18:57363902 CCBE1 G>A	18	57363902	57363902	G	A	CCBE1	c.171C>T	NM_133459.4	NP_597716.1:p.(Tyr57=)	NC_000018.9:g.57363902G>A	(Likely) benign	1 lab	680bf6a388
16:89712353 CHMP1A C>G	16	89712353	89712353	C	G	CHMP1A	c.692G>C	NM_001083314.3	NP_001076783.1:p.(Arg231Pro)	NC_000016.9:g.89712353C>G	VUS	1 lab	680c05ea02
2:179442245 TTN G>C	2	179442245	179442245	G	C	TTN	c.68825-8C>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179442245G>C	(Likely) benign	1 lab	680dd8aa8b
19:54678077 MBOAT7 CG>C	19	54678077	54678080	CG	C	MBOAT7	c.1079del	NM_024298.5	NP_077274.3:p.(Pro360ArgfsTer5)	NC_000019.9:g.54678080del	(Likely) pathogenic	1 lab	680e555a6d
22:28378326 TTC28 T>A	22	28378326	28378326	T	A	TTC28	c.7329A>T	NM_001145418.1	NP_001138890.1:p.(Ser2443=)	NC_000022.10:g.28378326T>A	(Likely) benign	1 lab	680eaf867f
8:61773623 CHD7 A>AT	8	61773623	61773626	A	AT	CHD7	c.7772dup	NM_017780.2	NP_060250.2:p.(Leu2591PhefsTer3)	NC_000008.10:g.61773626dup	(Likely) pathogenic	1 lab	680f396862
16:47549436 PHKB A>G	16	47549436	47549436	A	G	PHKB	c.497A>G	NM_001031835.2	NP_001027005.1:p.(Asn166Ser)	NC_000016.9:g.47549436A>G	VUS	1 lab	6810c78512
X:57318978 FAAH2 C>T	X	57318978	57318978	C	T	FAAH2	c.240C>T	NM_174912.3	NP_777572.2:p.(Asp80=)	NC_000023.10:g.57318978C>T	(Likely) benign	1 lab	6812cfa9f6
1:183095403 LAMC1 G>A	1	183095403	183095403	G	A	LAMC1	c.2944+6G>A	NM_002293.3	NP_002284.3:p.?	NC_000001.10:g.183095403G>A	(Likely) benign	1 lab	6814420e1b
X:111195460 TRPC5 G>A	X	111195460	111195460	G	A	TRPC5	c.189C>T	NM_012471.2	NP_036603.1:p.(Ile63=)	NC_000023.10:g.111195460G>A	(Likely) benign	1 lab	6814d6d838
17:29559080 NF1 T>C	17	29559080	29559080	T	C	NF1	c.3198-11T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559080T>C	(Likely) benign	1 lab	68181c6a02
21:47852085 PCNT G>A	21	47852085	47852085	G	A	PCNT	c.8707G>A	NM_006031.5	NP_006022.3:p.(Ala2903Thr)	NC_000021.8:g.47852085G>A	(Likely) benign	1 lab	681b08e4ce
11:6631436 ILK C>T	11	6631436	6631436	C	T	ILK	c.1136C>T	NM_004517.2	NP_004508.1:p.(Ala379Val)	NC_000011.9:g.6631436C>T	VUS	1 lab	681c0e67eb
1:160011186 KCNJ10 G>C	1	160011186	160011186	G	C	KCNJ10	c.1137C>G	NM_002241.4	NP_002232.2:p.(Val379=)	NC_000001.10:g.160011186G>C	(Likely) benign	1 lab	681e56cab6
10:105792719 COL17A1 T>C	10	105792719	105792719	T	C	COL17A1	c.4302A>G	NM_000494.4	NP_000485.3:p.(Gly1434=)	NC_000010.10:g.105792719T>C	(Likely) benign	1 lab	681e68ee50
21:14992518 POTED T>C	21	14992518	14992518	T	C	POTED	c.957T>C	NM_174981.3	NP_778146.2:p.(Ser319=)	NC_000021.8:g.14992518T>C	(Likely) benign	1 lab	681f829644
7:44663981 OGDH A>C	7	44663981	44663981	A	C	OGDH	c.39A>C	NM_002541.3	NP_002532.2:p.(Pro13=)	NC_000007.13:g.44663981A>C	(Likely) benign	1 lab	682322220e
12:40704413 LRRK2 C>G	12	40704413	40704413	C	G	LRRK2	c.4498C>G	NM_198578.3	NP_940980.3:p.(Leu1500Val)	NC_000012.11:g.40704413C>G	VUS	1 lab	682650e842
14:100317272 EML1 C>T	14	100317272	100317272	C	T	EML1	c.150C>T	NM_001008707.1	NP_001008707.1:p.(Asp50=)	NC_000014.8:g.100317272C>T	(Likely) benign	1 lab	6826d6f410
8:10464926 RP1L1 C>T	8	10464926	10464926	C	T	RP1L1	c.6682G>A	NM_178857.5	NP_849188.4:p.(Val2228Ile)	NC_000008.10:g.10464926C>T	(Likely) benign	1 lab	68278cb27a
5:39382900 DAB2 G>A	5	39382900	39382900	G	A	DAB2	c.1161C>T	NM_001343.3	NP_001334.2:p.(Asn387=)	NC_000005.9:g.39382900G>A	(Likely) benign	1 lab	6827bb387f
7:5781303 RNF216 G>A	7	5781303	5781303	G	A	RNF216	c.345C>T	NM_207111.3	NP_996994.1:p.(Asn115=)	NC_000007.13:g.5781303G>A	(Likely) benign	1 lab	68280c7e59
1:116245568 CASQ2 G>C	1	116245568	116245568	G	C	CASQ2	c.988C>G	NM_001232.3	NP_001223.2:p.(Gln330Glu)	NC_000001.10:g.116245568G>C	VUS	1 lab	6828579b4f
8:68030969 CSPP1 T>C	8	68030969	68030969	T	C	CSPP1	c.1604-9T>C	NM_024790.6	NP_079066.5:p.?	NC_000008.10:g.68030969T>C	(Likely) benign	1 lab	682becc747
15:62176397 VPS13C AAT>A	15	62176397	62176400	AAT	A	VPS13C	c.9411_9412del	NM_020821.3	NP_065872.1:p.(Leu3137PhefsTer18)	NC_000015.9:g.62176399_62176400del	VUS	1 lab	682c5b0055
X:71715098 HDAC8 C>T	X	71715098	71715098	C	T	HDAC8	c.458G>A	NM_001166419.1	NP_001159891.1:p.(Cys153Tyr)	NC_000023.10:g.71715098C>T	(Likely) pathogenic	1 lab	682ccda06b
16:84203788 DNAAF1 C>A	16	84203788	84203788	C	A	DNAAF1	c.1354C>A	NM_178452.5	NP_848547.4:p.(Pro452Thr)	NC_000016.9:g.84203788C>A	VUS	1 lab	682e4870de
X:49126952 PPP1R3F G>T	X	49126952	49126952	G	T	PPP1R3F	c.620G>T	NM_033215.4	NP_149992.3:p.(Gly207Val)	NC_000023.10:g.49126952G>T	VUS	1 lab	68306692de
20:10653421 JAG1 G>GTTGC	20	10653421	10653425	G	GTTGC	JAG1	c.311_314dup	NM_000214.3	NP_000205.1:p.(Asn105LysfsTer40)	NC_000020.10:g.10653422_10653425dup	(Likely) pathogenic	1 lab	6830d04aeb
10:102541128 PAX2 G>C	10	102541128	102541128	G	C	PAX2	c.616+6G>C	NM_003988.4	NP_003979.2:p.?	NC_000010.10:g.102541128G>C	(Likely) benign	1 lab	683126874d
14:105420266 AHNAK2 G>A	14	105420266	105420266	G	A	AHNAK2	c.1522C>T	NM_138420.3	NP_612429.2:p.(Leu508Phe)	NC_000014.8:g.105420266G>A	(Likely) benign	1 lab	6831460ef5
2:99008422 CNGA3 G>A	2	99008422	99008422	G	A	CNGA3	c.662G>A	NM_001298.2	NP_001289.1:p.(Arg221Gln)	NC_000002.11:g.99008422G>A	VUS	1 lab	68316e650f
9:135778111 TSC1 G>A	9	135778111	135778111	G	A	TSC1	c.2272C>T	NM_000368.4	NP_000359.1:p.(Gln758Ter)	NC_000009.11:g.135778111G>A	(Likely) pathogenic	1 lab	6832325825
3:123368045 MYLK G>GT	3	123368045	123368046	G	GT	MYLK	c.4289-5_4289-4insA	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123368045_123368046insT	VUS	1 lab	6833124ff4
9:136293898 ADAMTS13 G>A	9	136293898	136293898	G	A	ADAMTS13	c.824+7G>A	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136293898G>A	(Likely) benign	1 lab	6833d00297
Y:14945730 USP9Y G>A	Y	14945730	14945730	G	A	USP9Y	c.5138G>A	NM_004654.3	NP_004645.2:p.(Ser1713Asn)	NC_000024.9:g.14945730G>A	(Likely) benign	1 lab	68340bc631
11:70666618 SHANK2 C>T	11	70666618	70666618	C	T	SHANK2	c.1344G>A	NM_012309.4	NP_036441.2:p.(Gln448=)	NC_000011.9:g.70666618C>T	(Likely) benign	1 lab	6834e85cae
2:74273534 TET3 G>C	2	74273534	74273534	G	C	TET3	c.490G>C	NM_001287491.2	NP_001274420.1:p.(Gly164Arg)	NC_000002.11:g.74273534G>C	VUS	1 lab	6836f2a81f
1:216373131 USH2A C>A	1	216373131	216373131	C	A	USH2A	c.3649G>T	NM_206933.2	NP_996816.2:p.(Asp1217Tyr)	NC_000001.10:g.216373131C>A	(Likely) benign	1 lab	683789ce7c
1:116260439 CASQ2 G>A	1	116260439	116260439	G	A	CASQ2	c.838+22C>T	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116260439G>A	(Likely) benign	1 lab	683935959c
X:148044462 AFF2 G>C	X	148044462	148044462	G	C	AFF2	c.2908G>C	NM_002025.3	NP_002016.2:p.(Val970Leu)	NC_000023.10:g.148044462G>C	(Likely) benign	1 lab	683c00ed09
2:152490458 NEB A>G	2	152490458	152490458	A	G	NEB	c.9124T>C	NM_001271208.2	NP_001258137.2:p.(Cys3042Arg)	NC_000002.11:g.152490458A>G	(Likely) benign	1 lab	f4feff6284
7:19156601 TWIST1 ACGTTGGCCATGACCCGCT>A	7	19156601	19156619	ACGTTGGCCATGACCCGCT	A	TWIST1	c.326_343del	NM_000474.4	NP_000465.1:p.(Gln109_Val115delinsLeu)	NC_000007.13:g.19156602_19156619del	(Likely) pathogenic	1 lab	683c81e70d
20:5100418 PCNA G>A	20	5100418	5100418	G	A	PCNA	c.27C>T	NM_002592.2	NP_002583.1:p.(Gly9=)	NC_000020.10:g.5100418G>A	(Likely) benign	1 lab	683ded9081
16:88805044 PIEZO1 C>T	16	88805044	88805044	C	T	PIEZO1	c.566G>A	NM_001142864.4	NP_001136336.2:p.(Arg189Gln)	NC_000016.9:g.88805044C>T	(Likely) benign	1 lab	683ec425db
9:80646147 GNAQ G>C	9	80646147	80646147	G	C	GNAQ	c.5C>G	NM_002072.5	NP_002063.2:p.(Thr2Ser)	NC_000009.11:g.80646147G>C	(Likely) benign	1 lab	f5005d8209
5:150136012 DCTN4 A>G	5	150136012	150136012	A	G	DCTN4	c.2T>C	NM_001135644.1	NP_001129116.1:p.(Met1?)	NC_000005.9:g.150136012A>G	VUS	1 lab	683ef55274
19:51528841 KLK11 T>C	19	51528841	51528841	T	C	KLK11	c.136+7A>G	NM_144947.2	NP_659196.1:p.?	NC_000019.9:g.51528841T>C	(Likely) benign	1 lab	683f954e59
19:13419066 CACNA1A C>G	19	13419066	13419066	C	G	CACNA1A	c.1785-1G>C	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13419066C>G	(Likely) pathogenic	1 lab	683fc94015
3:50357223 HYAL2 G>T	3	50357223	50357223	G	T	HYAL2	c.698C>A	NM_033158.4	NP_149348.2:p.(Ala233Asp)	NC_000003.11:g.50357223G>T	(Likely) benign	1 lab	6840b1d787
16:2136240 TSC2 G>C	16	2136240	2136240	G	C	TSC2	c.4709G>C	NM_000548.3	NP_000539.2:p.(Arg1570Thr)	NC_000016.9:g.2136240G>C	(Likely) pathogenic	1 lab	68430d3a88
X:114425043 RBMXL3 G>A	X	114425043	114425043	G	A	RBMXL3	c.1039G>A	NM_001145346.1	NP_001138818.1:p.(Glu347Lys)	NC_000023.10:g.114425043G>A	VUS	1 lab	684330cee8
X:11781959 MSL3 G>A	X	11781959	11781959	G	A	MSL3	c.810G>A	NM_078628.1	NP_523352.1:p.(Pro270=)	NC_000023.10:g.11781959G>A	(Likely) benign	1 lab	68434ad245
4:25125785 SEPSECS T>C	4	25125785	25125785	T	C	SEPSECS	c.1274A>G	NM_016955.3	NP_058651.3:p.(His425Arg)	NC_000004.11:g.25125785T>C	VUS	1 lab	6843f39690
15:28419630 HERC2 G>A	15	28419630	28419630	G	A	HERC2	c.9968C>T	NM_004667.5	NP_004658.3:p.(Ala3323Val)	NC_000015.9:g.28419630G>A	VUS	1 lab	6844e101c2
19:6495925 TUBB4A A>G	19	6495925	6495925	A	G	TUBB4A	c.585T>C	NM_006087.4	NP_006078.2:p.(Asn195=)	NC_000019.9:g.6495925A>G	(Likely) benign	1 lab	68459d9537
10:16994384 CUBN G>T	10	16994384	16994384	G	T	CUBN	c.4860C>A	NM_001081.3	NP_001072.2:p.(Cys1620Ter)	NC_000010.10:g.16994384G>T	(Likely) pathogenic	1 lab	6845ee6bcb
10:61835333 ANK3 G>A	10	61835333	61835333	G	A	ANK3	c.5306C>T	NM_020987.5	NP_066267.2:p.(Thr1769Ile)	NC_000010.10:g.61835333G>A	(Likely) benign	1 lab	684656582d
2:208994516 CRYGC T>C	2	208994516	208994516	T	C	CRYGC	c.1A>G	NM_020989.3	NP_066269.1:p.(Met1?)	NC_000002.11:g.208994516T>C	(Likely) pathogenic	1 lab	68479ff308
2:224642592 AP1S3 AC>A	2	224642592	224642593	AC	A	AP1S3	c.4-7del	NM_001039569.2	NP_001034658.1:p.?	NC_000002.11:g.224642593del	(Likely) benign	1 lab	68492a5c0e
6:43012525 CUL7 AG>A	6	43012525	43012528	AG	A	CUL7	c.3136del	NM_014780.5	NP_055595.2:p.(Leu1046TrpfsTer95)	NC_000006.11:g.43012528del	(Likely) pathogenic	1 lab	6849e3f8a4
22:45943011 FBLN1 C>T	22	45943011	45943011	C	T	FBLN1	c.1368C>T	NM_006486.2	NP_006477.2:p.(Asn456=)	NC_000022.10:g.45943011C>T	(Likely) benign	1 lab	684b313f1a
8:55539478 RP1 G>C	8	55539478	55539478	G	C	RP1	c.3036G>C	NM_006269.1	NP_006260.1:p.(Leu1012=)	NC_000008.10:g.55539478G>C	(Likely) benign	1 lab	684b390b3a
X:153780374 IKBKG C>T	X	153780374	153780374	C	T	IKBKG	c.157C>T	NM_001099857.2	NP_001093327.1:p.(Arg53Cys)	NC_000023.10:g.153780374C>T	VUS	1 lab	684d294ec6
7:31855674 PDE1C G>A	7	31855674	31855674	G	A	PDE1C	c.1857C>T	NM_001322058.1	NP_001308987.1:p.(Gly619=)	NC_000007.13:g.31855674G>A	(Likely) benign	1 lab	684d455f92
7:5568875 ACTB G>A	7	5568875	5568875	G	A	ACTB	c.280C>T	NM_001101.3	NP_001092.1:p.(Leu94=)	NC_000007.13:g.5568875G>A	(Likely) benign	1 lab	684ddd270e
15:87531283 AGBL1 A>G	15	87531283	87531283	A	G	AGBL1	c.3287A>G	NM_152336.3	NP_689549.3:p.(Asn1096Ser)	NC_000015.9:g.87531283A>G	(Likely) benign	1 lab	6851b27247
16:727652 RHBDL1 T>G	16	727652	727652	T	G	RHBDL1	c.998T>G	NM_001318733.1	NP_001305662.1:p.(Met333Arg)	NC_000016.9:g.727652T>G	VUS	1 lab	68520ec10e
19:45997446 RTN2 G>T	19	45997446	45997446	G	T	RTN2	c.792C>A	NM_005619.4	NP_005610.1:p.(Phe264Leu)	NC_000019.9:g.45997446G>T	(Likely) benign	1 lab	68534ccf51
6:129691085 LAMA2 G>A	6	129691085	129691085	G	A	LAMA2	c.4909G>A	NM_000426.3	NP_000417.2:p.(Glu1637Lys)	NC_000006.11:g.129691085G>A	VUS	1 lab	6853e5b98d
16:21288829 CRYM G>C	16	21288829	21288829	G	C	CRYM	c.247C>G	NM_001888.4	NP_001879.1:p.(Arg83Gly)	NC_000016.9:g.21288829G>C	(Likely) benign	1 lab	6854fa297d
2:179634390 TTN A>T	2	179634390	179634390	A	T	TTN	c.8902+16T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634390A>T	(Likely) benign	1 lab	f5020b5b1b
2:166164385 SCN2A G>A	2	166164385	166164385	G	A	SCN2A	c.414G>A	NM_021007.2	NP_066287.2:p.(Thr138=)	NC_000002.11:g.166164385G>A	(Likely) benign	1 lab	685558b5df
17:34866586 MYO19 G>T	17	34866586	34866586	G	T	MYO19	c.1156C>A	NM_001163735.1	NP_001157207.1:p.(Arg386=)	NC_000017.10:g.34866586G>T	(Likely) benign	1 lab	68576c0d2b
21:37444800 CBR1 C>G	21	37444800	37444800	C	G	CBR1	c.454C>G	NM_001757.4	NP_001748.1:p.(Pro152Ala)	NC_000021.8:g.37444800C>G	(Likely) benign	1 lab	68582dfaa1
19:45923623 ERCC1 G>A	19	45923623	45923623	G	A	ERCC1	c.384C>T	NM_001983.3	NP_001974.1:p.(Pro128=)	NC_000019.9:g.45923623G>A	(Likely) benign	1 lab	68584d0c55
9:140611231 EHMT1 AC>A	9	140611231	140611236	AC	A	EHMT1	c.244del	NM_024757.5	NP_079033.4:p.(Gln82ArgfsTer7)	NC_000009.11:g.140611236del	(Likely) pathogenic	1 lab	68588fd8bf
17:7691263 DNAH2 C>T	17	7691263	7691263	C	T	DNAH2	c.6689C>T	NM_020877.3	NP_065928.2:p.(Ala2230Val)	NC_000017.10:g.7691263C>T	(Likely) benign	1 lab	68590bc1c7
14:64892826 MTHFD1 A>G	14	64892826	64892826	A	G	MTHFD1	c.1043A>G	NM_005956.4	NP_005947.3:p.(Tyr348Cys)	NC_000014.8:g.64892826A>G	VUS	1 lab	68593f3c53
16:1816565 MAPK8IP3 GGCCAGA>G	16	1816565	1816580	GGCCAGA	G	MAPK8IP3	c.2844_2849del	NM_001040439.2	NP_001035529.1:p.(Glu949_Pro950del)	NC_000016.9:g.1816575_1816580del	VUS	1 lab	f5061362ce
2:62067212 FAM161A A>T	2	62067212	62067212	A	T	FAM161A	c.927T>A	NM_001201543.1	NP_001188472.1:p.(Ser309=)	NC_000002.11:g.62067212A>T	(Likely) benign	1 lab	685ba875f4
16:27445755 IL21R C>T	16	27445755	27445755	C	T	IL21R	c.203C>T	NM_181079.4	NP_851565.4:p.(Thr68Met)	NC_000016.9:g.27445755C>T	(Likely) benign	1 lab	685c133bba
22:45898896 FBLN1 C>T	22	45898896	45898896	C	T	FBLN1	c.31C>T	NM_006486.2	NP_006477.2:p.(Pro11Ser)	NC_000022.10:g.45898896C>T	(Likely) benign	1 lab	685c37081d
4:108935599 HADH T>A	4	108935599	108935599	T	A	HADH	c.274T>A	NM_001184705.2	NP_001171634.2:p.(Phe92Ile)	NC_000004.11:g.108935599T>A	VUS	1 lab	685c72a236
5:1282720 TERT G>A	5	1282720	1282720	G	A	TERT	c.1593C>T	NM_198253.2	NP_937983.2:p.(Ala531=)	NC_000005.9:g.1282720G>A	(Likely) benign	1 lab	685cae9713
16:2129267 TSC2 T>C	16	2129267	2129267	T	C	TSC2	c.3132-10T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129267T>C	(Likely) benign	1 lab	685cc12ea9
X:70349523 MED12 A>G	X	70349523	70349523	A	G	MED12	c.3692-7A>G	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70349523A>G	VUS	1 lab	685cdb47cb
11:68705674 IGHMBP2 C>T	11	68705674	68705674	C	T	IGHMBP2	c.2636C>T	NM_002180.2	NP_002171.2:p.(Thr879Met)	NC_000011.9:g.68705674C>T	VUS	1 lab	685e138728
20:49509841 ADNP TTTATG>T	20	49509841	49509848	TTTATG	T	ADNP	c.1405_1409del	NM_001282531.3	NP_001269460.1:p.(His469SerfsTer2)	NC_000020.10:g.49509844_49509848del	(Likely) pathogenic	1 lab	685e7fe940
19:49207101 FUT2 A>C	19	49207101	49207101	A	C	FUT2	c.888A>C	NM_000511.5	NP_000502.4:p.(Ala296=)	NC_000019.9:g.49207101A>C	(Likely) benign	1 lab	685f05386e
2:179482621 TTN A>T	2	179482621	179482621	A	T	TTN	c.47457T>A	NM_001267550.1	NP_001254479.1:p.(Thr15819=)	NC_000002.11:g.179482621A>T	(Likely) benign	1 lab	685f49ee5f
12:124399436 DNAH10 G>A	12	124399436	124399436	G	A	DNAH10	c.10258G>A	NM_207437.3	NP_997320.2:p.(Val3420Ile)	NC_000012.11:g.124399436G>A	(Likely) benign	1 lab	685ff7b0b5
1:9775761 PIK3CD G>A	1	9775761	9775761	G	A	PIK3CD	c.304G>A	NM_005026.3	NP_005017.3:p.(Val102Met)	NC_000001.10:g.9775761G>A	VUS	1 lab	68618a9396
2:121746773 GLI2 G>C	2	121746773	121746773	G	C	GLI2	c.3283G>C	NM_005270.4	NP_005261.2:p.(Asp1095His)	NC_000002.11:g.121746773G>C	(Likely) benign	1 lab	6862f202da
12:57589107 LRP1 G>A	12	57589107	57589107	G	A	LRP1	c.8362G>A	NM_002332.2	NP_002323.2:p.(Val2788Ile)	NC_000012.11:g.57589107G>A	VUS	1 lab	6863233b2a
3:37081733 MLH1 GCCTTGGCACAGCATCAAA>G	3	37081733	37081753	GCCTTGGCACAGCATCAAA	G	MLH1	c.1618_1635del	NM_000249.4	NP_000240.1:p.(Leu540_Thr545del)	NC_000003.11:g.37081736_37081753del	(Likely) pathogenic	1 lab	6863a08d91
16:2130349 TSC2 G>A	16	2130349	2130349	G	A	TSC2	c.3581G>A	NM_000548.3	NP_000539.2:p.(Trp1194Ter)	NC_000016.9:g.2130349G>A	(Likely) pathogenic	1 lab	686560ced3
18:77171509 NFATC1 G>A	18	77171509	77171509	G	A	NFATC1	c.1226+8G>A	NM_001278669.1	NP_001265598.1:p.?	NC_000018.9:g.77171509G>A	(Likely) benign	1 lab	68661b85e6
3:49397668 RHOA T>A	3	49397668	49397668	T	A	RHOA	c.556A>T	NM_001664.3	NP_001655.1:p.(Lys186Ter)	NC_000003.11:g.49397668T>A	VUS	1 lab	68662c6fb0
16:56481876 NUDT21 C>T	16	56481876	56481876	C	T	NUDT21	c.142G>A	NM_007006.3	NP_008937.1:p.(Gly48Ser)	NC_000016.9:g.56481876C>T	VUS	1 lab	686643b526
1:11188943 MTOR A>AC	1	11188943	11188948	A	AC	MTOR	c.5779dup	NM_004958.3	NP_004949.1:p.(Val1927GlyfsTer7)	NC_000001.10:g.11188948dup	VUS	1 lab	6866b35b02
11:17627628 OTOG C>A	11	17627628	17627628	C	A	OTOG	c.4138C>A	NM_001277269.1	NP_001264198.1:p.(Arg1380=)	NC_000011.9:g.17627628C>A	(Likely) benign	1 lab	6866bcaf94
13:39264884 FREM2 G>A	13	39264884	39264884	G	A	FREM2	c.3403G>A	NM_207361.5	NP_997244.4:p.(Ala1135Thr)	NC_000013.10:g.39264884G>A	VUS	1 lab	68670a4aac
19:32845859 ZNF507 A>G	19	32845859	32845859	A	G	ZNF507	c.2123A>G	NM_001136156.2	NP_001129628.1:p.(Tyr708Cys)	NC_000019.9:g.32845859A>G	VUS	1 lab	6867ad6bef
17:48266286 COL1A1 G>C	17	48266286	48266286	G	C	COL1A1	c.3023C>G	NM_000088.3	NP_000079.2:p.(Pro1008Arg)	NC_000017.10:g.48266286G>C	VUS	1 lab	6868890897
1:38006338 SNIP1 G>A	1	38006338	38006338	G	A	SNIP1	c.346C>T	NM_024700.3	NP_078976.2:p.(Arg116Trp)	NC_000001.10:g.38006338G>A	VUS	1 lab	686cee6c53
2:179606054 TTN AC>A	2	179606054	179606055	AC	A	TTN	c.11905del	NM_001267550.2	NP_001254479.2:p.(Val3969LeufsTer67)	NC_000002.11:g.179606055del	(Likely) pathogenic	1 lab	f5082ecbd6
18:31319561 ASXL3 G>A	18	31319561	31319561	G	A	ASXL3	c.2193G>A	NM_030632.2	NP_085135.1:p.(Val731=)	NC_000018.9:g.31319561G>A	(Likely) benign	1 lab	687096586e
2:145157212 ZEB2 C>A	2	145157212	145157212	C	A	ZEB2	c.1542G>T	NM_014795.4	NP_055610.1:p.(Pro514=)	NC_000002.11:g.145157212C>A	(Likely) benign	1 lab	f509436749
18:47431052 MYO5B G>T	18	47431052	47431052	G	T	MYO5B	c.2561C>A	NM_001080467.2	NP_001073936.1:p.(Thr854Asn)	NC_000018.9:g.47431052G>T	(Likely) benign	1 lab	6873253af9
11:66637929 PC G>A	11	66637929	66637929	G	A	PC	c.752-5C>T	NM_001040716.1	NP_001035806.1:p.?	NC_000011.9:g.66637929G>A	(Likely) benign	1 lab	68736e4e8c
5:73985305 HEXB A>G	5	73985305	73985305	A	G	HEXB	c.445+7A>G	NM_000521.3	NP_000512.1:p.?	NC_000005.9:g.73985305A>G	(Likely) benign	1 lab	6873db905a
17:6381869 PITPNM3 G>T	17	6381869	6381869	G	T	PITPNM3	c.775C>A	NM_031220.3	NP_112497.2:p.(Gln259Lys)	NC_000017.10:g.6381869G>T	VUS	1 lab	6875d5c1c1
5:169423152 DOCK2 C>G	5	169423152	169423152	C	G	DOCK2	c.3056C>G	NM_004946.3	NP_004937.1:p.(Thr1019Arg)	NC_000005.9:g.169423152C>G	(Likely) benign	1 lab	68760e3259
6:131914232 MED23 A>G	6	131914232	131914232	A	G	MED23	c.3312T>C	NM_004830.4	NP_004821.2:p.(Ala1104=)	NC_000006.11:g.131914232A>G	(Likely) benign	1 lab	f50a7df78b
17:5212026 RABEP1 T>A	17	5212026	5212026	T	A	RABEP1	c.72T>A	NM_004703.6	NP_004694.2:p.(Ile24=)	NC_000017.10:g.5212026T>A	(Likely) benign	1 lab	68769f43c1
9:133333965 ASS1 G>A	9	133333965	133333965	G	A	ASS1	c.352G>A	NM_000050.4	NP_000041.2:p.(Ala118Thr)	NC_000009.11:g.133333965G>A	VUS	1 lab	687797bbd2
5:13841066 DNAH5 G>A	5	13841066	13841066	G	A	DNAH5	c.5658C>T	NM_001369.2	NP_001360.1:p.(Tyr1886=)	NC_000005.9:g.13841066G>A	(Likely) benign	1 lab	68784dabac
11:6662056 DCHS1 C>T	11	6662056	6662056	C	T	DCHS1				NC_000011.9:g.6662056C>T	(Likely) benign	1 lab	6878f715fb
22:31010409 TCN2 C>T	22	31010409	31010409	C	T	TCN2	c.420C>T	NM_001184726.1	NP_001171655.1:p.(His140=)	NC_000022.10:g.31010409C>T	(Likely) benign	1 lab	687927b144
5:145246156 GRXCR2 TCA>T	5	145246156	145246158	TCA	T	GRXCR2	c.470_471del	NM_001080516.2	NP_001073985.1:p.(Leu157HisfsTer15)	NC_000005.9:g.145246157_145246158del	(Likely) pathogenic	1 lab	687aca9d87
17:7720010 DNAH2 C>T	17	7720010	7720010	C	T	DNAH2	c.9851C>T	NM_020877.3	NP_065928.2:p.(Ser3284Leu)	NC_000017.10:g.7720010C>T	VUS	1 lab	687b3deaea
3:133748613 SLCO2A1 C>T	3	133748613	133748613	C	T	SLCO2A1	c.34G>A	NM_005630.2	NP_005621.2:p.(Gly12Ser)	NC_000003.11:g.133748613C>T	(Likely) benign	1 lab	687cad38ba
1:23419261 LUZP1 G>A	1	23419261	23419261	G	A	LUZP1	c.1494C>T	NM_033631.3	NP_361013.3:p.(Ser498=)	NC_000001.10:g.23419261G>A	(Likely) benign	1 lab	687cef2a40
14:21794239 RPGRIP1 C>G	14	21794239	21794239	C	G	RPGRIP1	c.2617C>G	NM_020366.3	NP_065099.3:p.(His873Asp)	NC_000014.8:g.21794239C>G	VUS	1 lab	6881fe604f
X:84563136 POF1B A>T	X	84563136	84563136	A	T	POF1B	c.1044T>A	NM_024921.3	NP_079197.3:p.(Asp348Glu)	NC_000023.10:g.84563136A>T	VUS	1 lab	688316d7db
4:170359222 NEK1 A>T	4	170359222	170359222	A	T	NEK1	c.2764+12T>A	NM_001199397.1	NP_001186326.1:p.?	NC_000004.11:g.170359222A>T	(Likely) benign	1 lab	6883339f55
4:123663321 BBS12 G>A	4	123663321	123663321	G	A	BBS12	c.274G>A	NM_001178007.1	NP_001171478.1:p.(Val92Ile)	NC_000004.11:g.123663321G>A	VUS	1 lab	68837df35d
16:3707180 DNASE1 C>T	16	3707180	3707180	C	T	DNASE1	c.550-8C>T	NM_005223.3	NP_005214.2:p.?	NC_000016.9:g.3707180C>T	(Likely) benign	1 lab	68844b6742
7:42018331 GLI3 T>TG	7	42018331	42018333	T	TG	GLI3	c.1513dup	NM_000168.5	NP_000159.3:p.(His505ProfsTer47)	NC_000007.13:g.42018333dup	(Likely) pathogenic	1 lab	6884be2759
19:43998903 PHLDB3 G>T	19	43998903	43998903	G	T	PHLDB3	c.1100C>A	NM_198850.3	NP_942147.3:p.(Ala367Asp)	NC_000019.9:g.43998903G>T	VUS	1 lab	68851023b3
X:44935971 KDM6A G>C	X	44935971	44935971	G	C	KDM6A	c.2888G>C	NM_001291415.1	NP_001278344.1:p.(Ser963Thr)	NC_000023.10:g.44935971G>C	VUS	1 lab	68885c472e
17:7286614 TNK1 C>G	17	7286614	7286614	C	G	TNK1	c.209C>G	NM_001251902.1	NP_001238831.1:p.(Pro70Arg)	NC_000017.10:g.7286614C>G	VUS	1 lab	688ae439f5
X:100496743 DRP2 A>G	X	100496743	100496743	A	G	DRP2	c.646A>G	NM_001939.2	NP_001930.2:p.(Thr216Ala)	NC_000023.10:g.100496743A>G	VUS	1 lab	688b2b582c
11:62609169 WDR74 C>T	11	62609169	62609169	C	T	WDR74	c.-426G>A	NM_001369451.1	NP_001356380.1:p.?	NC_000011.9:g.62609169C>T	VUS	1 lab	f5160cdb4d
X:32841407 DMD C>G	X	32841407	32841407	C	G	DMD	c.-13+5G>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32841407C>G	VUS	1 lab	688c6c7e23
21:47848470 PCNT C>T	21	47848470	47848470	C	T	PCNT	c.7656C>T	NM_006031.5	NP_006022.3:p.(Arg2552=)	NC_000021.8:g.47848470C>T	(Likely) benign	1 lab	688da408aa
11:71726464 NUMA1 C>T	11	71726464	71726464	C	T	NUMA1	c.2085G>A	NM_001286561.1	NP_001273490.1:p.(Gln695=)	NC_000011.9:g.71726464C>T	(Likely) benign	1 lab	688f717eb7
X:139586800 SOX3 G>T	X	139586800	139586800	G	T	SOX3	c.426C>A	NM_005634.2	NP_005625.2:p.(Pro142=)	NC_000023.10:g.139586800G>T	(Likely) benign	1 lab	68911923cb
5:90052296 ADGRV1 G>T	5	90052296	90052296	G	T	ADGRV1	c.11606G>T	NM_032119.4	NP_115495.3:p.(Gly3869Val)	NC_000005.9:g.90052296G>T	VUS	1 lab	689226640a
X:77529221 CYSLTR1 G>A	X	77529221	77529221	G	A	CYSLTR1	c.23C>T	NM_001282187.1	NP_001269116.1:p.(Thr8Ile)	NC_000023.10:g.77529221G>A	(Likely) benign	1 lab	6892674590
11:88924475 TYR A>AC	11	88924475	88924479	A	AC	TYR	c.929dup	NM_000372.4	NP_000363.1:p.(Arg311LysfsTer7)	NC_000011.9:g.88924479dup	(Likely) pathogenic	1 lab	6893bbc84d
19:7267891 INSR A>G	19	7267891	7267891	A	G	INSR	c.117T>C	NM_000208.3	NP_000199.2:p.(Asp39=)	NC_000019.9:g.7267891A>G	(Likely) benign	1 lab	68940612f5
22:38130676 TRIOBP A>G	22	38130676	38130676	A	G	TRIOBP	c.4333A>G	NM_001039141.2	NP_001034230.1:p.(Arg1445Gly)	NC_000022.10:g.38130676A>G	(Likely) benign	1 lab	6894af21a0
20:50307312 ATP9A A>G	20	50307312	50307312	A	G	ATP9A	c.689T>C	NM_006045.2	NP_006036.1:p.(Ile230Thr)	NC_000020.10:g.50307312A>G	VUS	1 lab	689523fcda
22:18655932 USP18 G>A	22	18655932	18655932	G	A	USP18	c.907G>A	NM_017414.3	NP_059110.2:p.(Glu303Lys)	NC_000022.10:g.18655932G>A	(Likely) benign	1 lab	6895686085
1:47717124 STIL C>G	1	47717124	47717124	C	G	STIL	c.3551G>C	NM_001048166.1	NP_001041631.1:p.(Cys1184Ser)	NC_000001.10:g.47717124C>G	VUS	1 lab	6896fe5213
5:10256210 CCT5 A>C	5	10256210	10256210	A	C	CCT5	c.475A>C	NM_012073.3	NP_036205.1:p.(Ile159Leu)	NC_000005.9:g.10256210A>C	(Likely) benign	1 lab	6897f84fdb
22:19753440 TBX1 GC>G	22	19753440	19753443	GC	G	TBX1	c.927del	NM_080647.1	NP_542378.1:p.(Gly310AlafsTer6)	NC_000022.10:g.19753443del	(Likely) pathogenic	1 lab	f5197411a4
X:153590695 FLNA C>T	X	153590695	153590695	C	T	FLNA	c.2571G>A	NM_001110556.2	NP_001104026.1:p.(Thr857=)	NC_000023.10:g.153590695C>T	(Likely) benign	1 lab	68992960db
3:197401910 RUBCN G>A	3	197401910	197401910	G	A	RUBCN	c.2763C>T	NM_001145642.4	NP_001139114.1:p.(Ala921=)	NC_000003.11:g.197401910G>A	(Likely) benign	1 lab	6899fdcd50
5:89949777 ADGRV1 T>A	5	89949777	89949777	T	A	ADGRV1	c.4378+8T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89949777T>A	(Likely) benign	1 lab	689c2be3b5
5:137517403 KIF20A T>C	5	137517403	137517403	T	C	KIF20A	c.361T>C	NM_005733.3	NP_005724.1:p.(Phe121Leu)	NC_000005.9:g.137517403T>C	VUS	1 lab	689de1ea3a
6:106555024 PRDM1 C>T	6	106555024	106555024	C	T	PRDM1	c.2141C>T	NM_001198.4	NP_001189.2:p.(Pro714Leu)	NC_000006.11:g.106555024C>T	VUS	1 lab	f51a223966
22:30054258 NF2 G>A	22	30054258	30054258	G	A	NF2	c.675+5G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30054258G>A	(Likely) pathogenic	1 lab	68a0baeaa9
6:170176787 ERMARD T>C	6	170176787	170176787	T	C	ERMARD	c.1739+18T>C	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170176787T>C	(Likely) benign	1 lab	68a1984313
7:94039607 COL1A2 C>T	7	94039607	94039607	C	T	COL1A2	c.1089C>T	NM_000089.3	NP_000080.2:p.(Pro363=)	NC_000007.13:g.94039607C>T	(Likely) benign	1 lab	68a199c815
4:15005259 CPEB2 T>G	4	15005259	15005259	T	G	CPEB2	c.962T>G	NM_001177382.1	NP_001170853.1:p.(Leu321Arg)	NC_000004.11:g.15005259T>G	VUS	1 lab	68a1eefb09
5:13883174 DNAH5 T>A	5	13883174	13883174	T	A	DNAH5	c.3013A>T	NM_001369.2	NP_001360.1:p.(Asn1005Tyr)	NC_000005.9:g.13883174T>A	(Likely) benign	1 lab	68a2251c19
15:86118415 AKAP13 A>C	15	86118415	86118415	A	C	AKAP13	c.716A>C	NM_006738.5	NP_006729.4:p.(Tyr239Ser)	NC_000015.9:g.86118415A>C	VUS	1 lab	68a298ce27
17:78184463 SGSH G>A	17	78184463	78184463	G	A	SGSH	c.1297C>T	NM_000199.4	NP_000190.1:p.(Arg433Trp)	NC_000017.10:g.78184463G>A	(Likely) pathogenic	1 lab	68a7288e9b
16:50821764 CYLD G>A	16	50821764	50821764	G	A	CYLD	c.2108+1G>A	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50821764G>A	(Likely) pathogenic	1 lab	68a85c6b9d
13:103389161 LRTM3 T>C	13	103389161	103389161	T	C	LRTM3	c.13886A>G	NM_001146197.2	NP_001139669.1:p.(Tyr4629Cys)	NC_000013.10:g.103389161T>C	VUS	1 lab	68a908789c
3:148863214 HPS3 A>G	3	148863214	148863214	A	G	HPS3	c.1044A>G	NM_032383.4	NP_115759.2:p.(Leu348=)	NC_000003.11:g.148863214A>G	(Likely) benign	1 lab	68a963447d
7:44047128 SPDYE1 C>A	7	44047128	44047128	C	A	SPDYE1	c.894C>A	NM_175064.2	NP_778234.2:p.(Phe298Leu)	NC_000007.13:g.44047128C>A	(Likely) benign	1 lab	68aab1cd58
1:243652332 SDCCAG8 A>G	1	243652332	243652332	A	G	SDCCAG8	c.1099A>G	NM_001350251.1	NP_001337180.1:p.(Lys367Glu)	NC_000001.10:g.243652332A>G	(Likely) benign	1 lab	68ab5b842b
22:34046452 LARGE1 G>A	22	34046452	34046452	G	A	LARGE1	c.309C>T	NM_004737.5	NP_004728.1:p.(Ser103=)	NC_000022.10:g.34046452G>A	(Likely) benign	1 lab	68adc40e44
1:175348818 TNR G>A	1	175348818	175348818	G	A	TNR	c.1833C>T	NM_003285.2	NP_003276.3:p.(Asp611=)	NC_000001.10:g.175348818G>A	(Likely) benign	1 lab	68aebbc0dc
6:74331663 SLC17A5 G>A	6	74331663	74331663	G	A	SLC17A5	c.842C>T	NM_012434.4	NP_036566.1:p.(Pro281Leu)	NC_000006.11:g.74331663G>A	VUS	1 lab	68af4bb133
9:135781396 TSC1 G>A	9	135781396	135781396	G	A	TSC1	c.1569C>T	NM_000368.4	NP_000359.1:p.(Ala523=)	NC_000009.11:g.135781396G>A	(Likely) benign	1 lab	68af608abb
7:1518027 INTS1 G>C	7	1518027	1518027	G	C	INTS1	c.4605C>G	NM_001080453.3	NP_001073922.2:p.(Ser1535Arg)	NC_000007.13:g.1518027G>C	(Likely) benign	1 lab	68afa302b3
15:101775491 CHSY1 C>T	15	101775491	101775491	C	T	CHSY1	c.612G>A	NM_014918.4	NP_055733.2:p.(Thr204=)	NC_000015.9:g.101775491C>T	(Likely) benign	1 lab	68aff6a8ea
16:1250778 CACNA1H C>T	16	1250778	1250778	C	T	CACNA1H	c.1182C>T	NM_021098.2	NP_066921.2:p.(Tyr394=)	NC_000016.9:g.1250778C>T	(Likely) benign	1 lab	68b2bf3e27
11:16807860 PLEKHA7 C>G	11	16807860	16807860	C	G	PLEKHA7	c.3432G>C	NM_001329630.2	NP_001316559.1:p.(Glu1144Asp)	NC_000011.9:g.16807860C>G	(Likely) benign	1 lab	68b2d1022a
1:210111597 SYT14 T>C	1	210111597	210111597	T	C	SYT14	c.2T>C	NM_001146261.2	NP_001139733.1:p.(Met1?)	NC_000001.10:g.210111597T>C	VUS	1 lab	68b2fb6db2
X:134948109 CT45A5 C>G	X	134948109	134948109	C	G	CT45A5				NC_000023.10:g.134948109C>G	(Likely) benign	1 lab	68b3403ea6
3:10128891 FANCD2 CTT>C	3	10128891	10128895	CTT	C	FANCD2	c.3412_3413del	NM_001319984.2	NP_001306913.1:p.(Leu1138AspfsTer34)	NC_000003.11:g.10128894_10128895del	(Likely) pathogenic	1 lab	f51f360b13
X:70072944 TEX11 G>A	X	70072944	70072944	G	A	TEX11	c.510C>T	NM_001003811.1	NP_001003811.1:p.(Thr170=)	NC_000023.10:g.70072944G>A	(Likely) benign	1 lab	68b9ba67f2
17:56327032 LPO GCGCAACGGCTTCCCTCTCC>G	17	56327032	56327054	GCGCAACGGCTTCCCTCTCC	G	LPO	c.553_571del	NM_006151.3	NP_006142.1:p.(Asn185TrpfsTer13)	NC_000017.10:g.56327036_56327054del	VUS	1 lab	68ba4a8e60
3:38663917 SCN5A G>A	3	38663917	38663917	G	A	SCN5A	c.456C>T	NM_001099404.1	NP_001092874.1:p.(Asp152=)	NC_000003.11:g.38663917G>A	(Likely) benign	1 lab	68ba54194e
X:40990753 USP9X G>T	X	40990753	40990753	G	T	USP9X	c.286G>T	NM_001039591.3	NP_001034680.2:p.(Val96Leu)	NC_000023.10:g.40990753G>T	(Likely) benign	1 lab	68bd659f75
6:33152069 COL11A2 G>A	6	33152069	33152069	G	A	COL11A2	c.972C>T	NM_080680.2	NP_542411.2:p.(Ala324=)	NC_000006.11:g.33152069G>A	(Likely) benign	1 lab	68bdb469ec
8:144889768 SCRIB T>C	8	144889768	144889768	T	C	SCRIB	c.2132A>G	NM_182706.4	NP_874365.3:p.(Gln711Arg)	NC_000008.10:g.144889768T>C	VUS	1 lab	68bff243de
19:55877505 IL11 G>A	19	55877505	55877505	G	A	IL11	c.470C>T	NM_000641.4	NP_000632.1:p.(Pro157Leu)	NC_000019.9:g.55877505G>A	VUS	1 lab	68bffc529c
2:196729430 DNAH7 G>A	2	196729430	196729430	G	A	DNAH7	c.6949C>T	NM_018897.3	NP_061720.2:p.(Arg2317Ter)	NC_000002.11:g.196729430G>A	VUS	1 lab	68c166b64b
5:140595315 PCDHB13 G>T	5	140595315	140595315	G	T	PCDHB13	c.1620G>T	NM_018933.3	NP_061756.1:p.(Ala540=)	NC_000005.9:g.140595315G>T	(Likely) benign	1 lab	68c38e3738
11:108150357 ATM T>G	11	108150357	108150357	T	G	ATM	c.3402+22T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108150357T>G	VUS	1 lab	68c39863b4
11:44331309 ALX4 G>A	11	44331309	44331309	G	A	ALX4	c.304C>T	NM_021926.4	NP_068745.2:p.(Pro102Ser)	NC_000011.9:g.44331309G>A	(Likely) benign	1 lab	68c4038a32
10:64573011 EGR2 C>T	10	64573011	64573011	C	T	EGR2	c.1387G>A	NM_000399.3	NP_000390.2:p.(Gly463Arg)	NC_000010.10:g.64573011C>T	VUS	1 lab	68c7ce15c4
2:189872260 COL3A1 C>G	2	189872260	189872260	C	G	COL3A1	c.3290C>G	NM_000090.3	NP_000081.1:p.(Thr1097Arg)	NC_000002.11:g.189872260C>G	VUS	1 lab	68c7fbfa14
11:74168583 KCNE3 G>A	11	74168583	74168583	G	A	KCNE3	c.26C>T	NM_005472.4	NP_005463.1:p.(Thr9Ile)	NC_000011.9:g.74168583G>A	(Likely) benign	1 lab	68c8ffff53
1:27875387 AHDC1 A>G	1	27875387	27875387	A	G	AHDC1	c.3240T>C	NM_001029882.3	NP_001025053.1:p.(Ser1080=)	NC_000001.10:g.27875387A>G	(Likely) benign	1 lab	68c90be067
X:41416297 CASK G>A	X	41416297	41416297	G	A	CASK	c.1794C>T	NM_001367721.1	NP_001354650.1:p.(Asn598=)	NC_000023.10:g.41416297G>A	(Likely) benign	1 lab	68c934e9f9
18:3457496 TGIF1 T>C	18	3457496	3457496	T	C	TGIF1	c.317T>C	NM_170695.5	NP_733796.3:p.(Val106Ala)	NC_000018.9:g.3457496T>C	(Likely) benign	1 lab	f5228523f6
16:31476020 ARMC5 C>T	16	31476020	31476020	C	T	ARMC5	c.1676C>T	NM_024742.2	NP_079018.1:p.(Pro559Leu)	NC_000016.9:g.31476020C>T	VUS	1 lab	68cab4bdfd
3:101284640 TRMT10C G>C	3	101284640	101284640	G	C	TRMT10C	c.1015G>C	NM_017819.3	NP_060289.2:p.(Asp339His)	NC_000003.11:g.101284640G>C	VUS	1 lab	68cae9daa7
4:78987169 FRAS1 C>T	4	78987169	78987169	C	T	FRAS1	c.107C>T	NM_025074.7	NP_079350.5:p.(Ala36Val)	NC_000004.11:g.78987169C>T	(Likely) benign	1 lab	68cc3881c5
17:3620030 ITGAE G>A	17	3620030	3620030	G	A	ITGAE	c.3396C>T	NM_002208.5	NP_002199.3:p.(Ser1132=)	NC_000017.10:g.3620030G>A	(Likely) benign	1 lab	68cc4b67e8
21:33691626 URB1 C>G	21	33691626	33691626	C	G	URB1	c.5693G>C	NM_014825.3	NP_055640.2:p.(Arg1898Pro)	NC_000021.8:g.33691626C>G	(Likely) benign	1 lab	68cca91933
20:62073867 KCNQ2 C>A	20	62073867	62073867	C	A	KCNQ2	c.708G>T	NM_172107.3	NP_742105.1:p.(Trp236Cys)	NC_000020.10:g.62073867C>A	VUS	1 lab	68cce9860d
7:127255026 PAX4 G>A	7	127255026	127255026	G	A	PAX4	c.268C>T	NM_001366110.1	NP_001353039.1:p.(Gln90Ter)	NC_000007.13:g.127255026G>A	(Likely) pathogenic	1 lab	68cdff1851
3:142279229 ATR G>A	3	142279229	142279229	G	A	ATR	c.1417C>T	NM_001184.3	NP_001175.2:p.(Leu473Phe)	NC_000003.11:g.142279229G>A	VUS	1 lab	68ce11d5aa
15:42105938 MAPKBP1 C>T	15	42105938	42105938	C	T	MAPKBP1	c.957C>T	NM_001128608.1	NP_001122080.1:p.(Pro319=)	NC_000015.9:g.42105938C>T	(Likely) benign	1 lab	68d122c832
16:14014240 ERCC4 G>A	16	14014240	14014240	G	A	ERCC4	c.207+11G>A	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14014240G>A	(Likely) benign	1 lab	f527f801b0
19:40376501 FCGBP G>A	19	40376501	40376501	G	A	FCGBP	c.11803C>T	NM_003890.2	NP_003881.2:p.(Pro3935Ser)	NC_000019.9:g.40376501G>A	VUS	1 lab	68d1e08048
7:82545368 PCLO A>G	7	82545368	82545368	A	G	PCLO	c.11934T>C	NM_033026.5	NP_149015.2:p.(Tyr3978=)	NC_000007.13:g.82545368A>G	(Likely) benign	1 lab	68d2086102
X:48047096 SSX5 T>C	X	48047096	48047096	T	C	SSX5	c.661A>G	NM_021015.3	NP_066295.3:p.(Ile221Val)	NC_000023.10:g.48047096T>C	VUS	1 lab	68d31e771e
17:78092541 GAA G>GC	17	78092541	78092545	G	GC	GAA	c.2740dup	NM_000152.3	NP_000143.2:p.(Gln914ProfsTer104)	NC_000017.10:g.78092545dup	(Likely) pathogenic	1 lab	68d3b0522a
20:3210190 SLC4A11 G>C	20	3210190	3210190	G	C	SLC4A11	c.1851C>G	NM_001174090.1	NP_001167561.1:p.(Thr617=)	NC_000020.10:g.3210190G>C	(Likely) benign	1 lab	68d3c3ae2e
11:89774447 TRIM49C A>G	11	89774447	89774447	A	G	TRIM49C	c.1088A>G	NM_001195234.1	NP_001182163.1:p.(Lys363Arg)	NC_000011.9:g.89774447A>G	(Likely) benign	1 lab	68d4a1810d
14:105614533 JAG2 T>C	14	105614533	105614533	T	C	JAG2	c.2168A>G	NM_002226.5	NP_002217.3:p.(Asn723Ser)	NC_000014.8:g.105614533T>C	VUS	1 lab	68d4b589d7
16:84050229 SLC38A8 G>A	16	84050229	84050229	G	A	SLC38A8	c.1057C>T	NM_001080442.2	NP_001073911.1:p.(Leu353=)	NC_000016.9:g.84050229G>A	(Likely) benign	1 lab	68d567912f
21:46323421 ITGB2 G>A	21	46323421	46323421	G	A	ITGB2	c.358C>T	NM_000211.3	NP_000202.2:p.(Arg120Trp)	NC_000021.8:g.46323421G>A	VUS	1 lab	68d8c6e6e3
8:144999733 PLEC C>T	8	144999733	144999733	C	T	PLEC	c.4775G>A	NM_201380.3	NP_958782.1:p.(Arg1592His)	NC_000008.10:g.144999733C>T	(Likely) benign	1 lab	68d8d446a5
2:163124688 IFIH1 G>A	2	163124688	163124688	G	A	IFIH1	c.2716C>T	NM_022168.4	NP_071451.2:p.(Leu906Phe)	NC_000002.11:g.163124688G>A	VUS	1 lab	68d940a001
X:154185427 F8 A>C	X	154185427	154185427	A	C	F8	c.1557T>G	NM_000132.3	NP_000123.1:p.(Asp519Glu)	NC_000023.10:g.154185427A>C	VUS	1 lab	68daaa7a53
14:64886532 MTHFD1 G>A	14	64886532	64886532	G	A	MTHFD1	c.616G>A	NM_005956.4	NP_005947.3:p.(Val206Ile)	NC_000014.8:g.64886532G>A	(Likely) benign	1 lab	68db31194e
8:133953750 TG G>A	8	133953750	133953750	G	A	TG	c.5196G>A	NM_003235.4	NP_003226.4:p.(Leu1732=)	NC_000008.10:g.133953750G>A	(Likely) benign	1 lab	68dbc6512c
21:27347433 APP G>A	21	27347433	27347433	G	A	APP	c.1408C>T	NM_000484.3	NP_000475.1:p.(Arg470Cys)	NC_000021.8:g.27347433G>A	VUS	1 lab	68de704038
X:1558003 ASMTL G>A	X	1558003	1558003	G	A	ASMTL	c.260C>T	NM_004192.3	NP_004183.2:p.(Ala87Val)	NC_000023.10:g.1558003G>A	VUS	1 lab	68df201621
X:153677251 FAM50A C>T	X	153677251	153677251	C	T	FAM50A	c.597C>T	NM_004699.3	NP_004690.1:p.(Ile199=)	NC_000023.10:g.153677251C>T	(Likely) benign	1 lab	68e0480eb0
15:25601122 UBE3A G>A	15	25601122	25601122	G	A	UBE3A	c.1981C>T	NM_130838.1	NP_570853.1:p.(Gln661Ter)	NC_000015.9:g.25601122G>A	(Likely) pathogenic	1 lab	68e14b7e02
X:122778523 THOC2 G>A	X	122778523	122778523	G	A	THOC2	c.1564C>T	NM_001081550.2	NP_001075019.1:p.(Arg522Cys)	NC_000023.10:g.122778523G>A	VUS	1 lab	f529b371a2
1:44437176 DPH2 G>A	1	44437176	44437176	G	A	DPH2	c.23G>A	NM_001319170.1	NP_001306099.1:p.(Arg8His)	NC_000001.10:g.44437176G>A	VUS	1 lab	68e28fecb9
2:27600972 ZNF513 T>C	2	27600972	27600972	T	C	ZNF513	c.1066A>G	NM_144631.5	NP_653232.3:p.(Ser356Gly)	NC_000002.11:g.27600972T>C	(Likely) benign	1 lab	68e31e033f
2:26739428 OTOF C>G	2	26739428	26739428	C	G	OTOF	c.367G>C	NM_194248.2	NP_919224.1:p.(Gly123Arg)	NC_000002.11:g.26739428C>G	VUS	1 lab	68e3bc6dbe
12:83379705 TMTC2 T>C	12	83379705	83379705	T	C	TMTC2	c.1950T>C	NM_152588.3	NP_689801.1:p.(Gly650=)	NC_000012.11:g.83379705T>C	(Likely) benign	1 lab	68e5ba3d66
19:10249117 DNMT1 G>A	19	10249117	10249117	G	A	DNMT1	c.4065C>T	NM_001379.3	NP_001370.1:p.(Thr1355=)	NC_000019.9:g.10249117G>A	VUS	1 lab	68e5e64d21
3:132415632 NPHP3 C>T	3	132415632	132415632	C	T	NPHP3	c.2114G>A	NM_153240.4	NP_694972.3:p.(Arg705His)	NC_000003.11:g.132415632C>T	VUS	1 lab	68e7ee6700
5:82815696 VCAN G>C	5	82815696	82815696	G	C	VCAN	c.1571G>C	NM_004385.4	NP_004376.2:p.(Arg524Thr)	NC_000005.9:g.82815696G>C	(Likely) benign	1 lab	68e826c965
11:65320697 LTBP3 C>T	11	65320697	65320697	C	T	LTBP3	c.1001G>A	NM_001130144.2	NP_001123616.1:p.(Arg334His)	NC_000011.9:g.65320697C>T	(Likely) benign	1 lab	68e8cdd889
1:114454398 DCLRE1B G>A	1	114454398	114454398	G	A	DCLRE1B	c.1184G>A	NM_022836.4	NP_073747.1:p.(Arg395Gln)	NC_000001.10:g.114454398G>A	(Likely) benign	1 lab	68e90a0951
16:30735247 SRCAP C>T	16	30735247	30735247	C	T	SRCAP	c.4502C>T	NM_006662.2	NP_006653.2:p.(Ser1501Leu)	NC_000016.9:g.30735247C>T	VUS	1 lab	68e96a7fe8
13:48942669 RB1 AAC>A	13	48942669	48942674	AAC	A	RB1	c.1060_1061del	NM_000321.3	NP_000312.2:p.(Gln354GlufsTer7)	NC_000013.10:g.48942673_48942674del	(Likely) pathogenic	1 lab	f52add11f0
12:7047134 ATN1 C>T	12	7047134	7047134	C	T	ATN1	c.2421C>T	NM_001940.4	NP_001931.2:p.(Ala807=)	NC_000012.11:g.7047134C>T	(Likely) benign	1 lab	68eb4a3962
9:123805351 C5 G>A	9	123805351	123805351	G	A	C5	c.370C>T	NM_001317163.1	NP_001304092.1:p.(Pro124Ser)	NC_000009.11:g.123805351G>A	VUS	1 lab	68ec6d0fac
15:85400099 ALPK3 G>A	15	85400099	85400099	G	A	ALPK3	c.2736G>A	NM_020778.4	NP_065829.3:p.(Thr912=)	NC_000015.9:g.85400099G>A	(Likely) benign	1 lab	68ed9158e6
10:14950941 DCLRE1C T>C	10	14950941	14950941	T	C	DCLRE1C	c.1185A>G	NM_001289079.1	NP_001276008.1:p.(Gly395=)	NC_000010.10:g.14950941T>C	(Likely) benign	1 lab	68ef0f986b
15:79058293 ADAMTS7 T>A	15	79058293	79058293	T	A	ADAMTS7	c.3960A>T	NM_014272.4	NP_055087.2:p.(Pro1320=)	NC_000015.9:g.79058293T>A	(Likely) benign	1 lab	68effa6c51
X:134713731 INTS6L A>T	X	134713731	134713731	A	T	INTS6L	c.2138A>T	NM_001351601.1	NP_001338530.1:p.(Asp713Val)	NC_000023.10:g.134713731A>T	VUS	1 lab	68f0ea2ec8
12:91372036 EPYC C>A	12	91372036	91372036	C	A	EPYC	c.169G>T	NM_004950.5	NP_004941.2:p.(Glu57Ter)	NC_000012.11:g.91372036C>A	VUS	1 lab	68f223f404
17:76120614 TMC6 G>A	17	76120614	76120614	G	A	TMC6	c.882C>T	NM_001127198.2	NP_001120670.1:p.(Leu294=)	NC_000017.10:g.76120614G>A	(Likely) benign	1 lab	68f2ec31d7
15:100692871 ADAMTS17 G>A	15	100692871	100692871	G	A	ADAMTS17	c.1419C>T	NM_139057.3	NP_620688.2:p.(Asn473=)	NC_000015.9:g.100692871G>A	(Likely) benign	1 lab	68f44f9647
10:55582054 PCDH15 A>G	10	55582054	55582054	A	G	PCDH15	c.5453T>C	NM_001142763.1	NP_001136235.1:p.(Leu1818Pro)	NC_000010.10:g.55582054A>G	(Likely) benign	1 lab	68f507b549
1:9787043 PIK3CD A>G	1	9787043	9787043	A	G	PIK3CD	c.3074A>G	NM_005026.3	NP_005017.3:p.(Glu1025Gly)	NC_000001.10:g.9787043A>G	VUS	1 lab	68f56c39ee
6:152540224 SYNE1 A>G	6	152540224	152540224	A	G	SYNE1	c.21958T>C	NM_182961.3	NP_892006.3:p.(Ser7320Pro)	NC_000006.11:g.152540224A>G	(Likely) benign	1 lab	68f7fa9755
11:557472 LMNTD2 C>T	11	557472	557472	C	T	LMNTD2	c.640G>A	NM_173573.3	NP_775844.2:p.(Asp214Asn)	NC_000011.9:g.557472C>T	(Likely) benign	1 lab	68f8783d2a
6:33144068 COL11A2 T>A	6	33144068	33144068	T	A	COL11A2	c.2182A>T	NM_080680.2	NP_542411.2:p.(Ile728Phe)	NC_000006.11:g.33144068T>A	(Likely) benign	1 lab	68f93c92ad
8:101232513 SPAG1 G>A	8	101232513	101232513	G	A	SPAG1	c.1542G>A	NM_003114.4	NP_003105.2:p.(Leu514=)	NC_000008.10:g.101232513G>A	(Likely) benign	1 lab	68faa43d61
10:48389954 RBP3 C>T	10	48389954	48389954	C	T	RBP3	c.924G>A	NM_002900.2	NP_002891.1:p.(Pro308=)	NC_000010.10:g.48389954C>T	(Likely) benign	1 lab	68fb331afc
X:70389731 NLGN3 C>T	X	70389731	70389731	C	T	NLGN3	c.2331C>T	NM_181303.1	NP_851820.1:p.(Ala777=)	NC_000023.10:g.70389731C>T	(Likely) benign	1 lab	68fb65aade
4:70599172 SULT1B1 C>T	4	70599172	70599172	C	T	SULT1B1	c.556G>A	NM_014465.4	NP_055280.2:p.(Glu186Lys)	NC_000004.11:g.70599172C>T	(Likely) benign	1 lab	68fff2336a
1:152279151 FLG A>C	1	152279151	152279151	A	C	FLG	c.8211T>G	NM_002016.1	NP_002007.1:p.(Ser2737=)	NC_000001.10:g.152279151A>C	(Likely) benign	1 lab	6901e0d59c
20:31384657 DNMT3B G>C	20	31384657	31384657	G	C	DNMT3B	c.1359G>C	NM_006892.3	NP_008823.1:p.(Gly453=)	NC_000020.10:g.31384657G>C	(Likely) benign	1 lab	6902aeb95b
9:133954548 LAMC3 C>T	9	133954548	133954548	C	T	LAMC3	c.3790C>T	NM_006059.3	NP_006050.3:p.(Arg1264Trp)	NC_000009.11:g.133954548C>T	(Likely) benign	1 lab	690371195a
3:48965162 ARIH2 G>A	3	48965162	48965162	G	A	ARIH2	c.171G>A	NM_001349210.1	NP_001336139.1:p.(Glu57=)	NC_000003.11:g.48965162G>A	(Likely) benign	1 lab	6903cec13e
X:100177818 XKRX C>T	X	100177818	100177818	C	T	XKRX	c.568G>A	NM_212559.2	NP_997724.2:p.(Val190Met)	NC_000023.10:g.100177818C>T	VUS	1 lab	69067a21c3
X:152710750 TREX2 C>T	X	152710750	152710750	C	T	TREX2	c.139G>A	NM_080701.3	NP_542432.2:p.(Glu47Lys)	NC_000023.10:g.152710750C>T	(Likely) benign	1 lab	6909e113b6
19:4343714 MPND C>A	19	4343714	4343714	C	A	MPND	c.17C>A	NM_001300862.1	NP_001287791.1:p.(Pro6Gln)	NC_000019.9:g.4343714C>A	VUS	1 lab	690b2bcbc7
9:116245283 RGS3 C>CTG	9	116245283	116245296	C	CTG	RGS3	c.93_94dup	NM_001282923.1	NP_001269852.1:p.(Tyr32CysfsTer11)	NC_000009.11:g.116245295_116245296dup	VUS	1 lab	690bd79dc7
5:37138903 CPLANE1 T>C	5	37138903	37138903	T	C	CPLANE1	c.8549A>G	NM_023073.3	NP_075561.3:p.(Asp2850Gly)	NC_000005.9:g.37138903T>C	VUS	1 lab	690c7459c4
17:59924529 BRIP1 A>G	17	59924529	59924529	A	G	BRIP1	c.560T>C	NM_032043.2	NP_114432.2:p.(Val187Ala)	NC_000017.10:g.59924529A>G	(Likely) benign	1 lab	690dc40853
11:125484299 STT3A C>G	11	125484299	125484299	C	G	STT3A	c.1752C>G	NM_001278503.1	NP_001265432.1:p.(Gly584=)	NC_000011.9:g.125484299C>G	(Likely) benign	1 lab	690dfc599a
11:6589425 DNHD1 C>T	11	6589425	6589425	C	T	DNHD1	c.12491C>T	NM_144666.2	NP_653267.2:p.(Pro4164Leu)	NC_000011.9:g.6589425C>T	VUS	1 lab	690e1d0aee
X:123022553 XIAP C>G	X	123022553	123022553	C	G	XIAP	c.962C>G	NM_001167.3	NP_001158.2:p.(Ala321Gly)	NC_000023.10:g.123022553C>G	(Likely) benign	1 lab	690e3c7c51
7:15427067 AGMO A>AC	7	15427067	15427069	A	AC	AGMO	c.920dup	NM_001004320.2	NP_001004320.1:p.(Lys308Ter)	NC_000007.13:g.15427069dup	(Likely) pathogenic	1 lab	f52f744c4c
4:88537075 DSPP C>A	4	88537075	88537075	C	A	DSPP	c.3261C>A	NM_014208.3	NP_055023.2:p.(Ser1087Arg)	NC_000004.11:g.88537075C>A	VUS	1 lab	690ef753c5
8:28600695 EXTL3 C>T	8	28600695	28600695	C	T	EXTL3	c.2514C>T	NM_001440.3	NP_001431.1:p.(Phe838=)	NC_000008.10:g.28600695C>T	(Likely) benign	1 lab	690f3f46ad
3:121553808 IQCB1 G>T	3	121553808	121553808	G	T	IQCB1	c.-102+5C>A	NM_001023570.3	NP_001018864.2:p.?	NC_000003.11:g.121553808G>T	VUS	1 lab	690f95bbd3
11:73796935 C2CD3 T>C	11	73796935	73796935	T	C	C2CD3	c.3642-4A>G	NM_001286577.1	NP_001273506.1:p.?	NC_000011.9:g.73796935T>C	(Likely) benign	1 lab	6910d3d7a8
16:30941777 FBXL19 C>T	16	30941777	30941777	C	T	FBXL19	c.1233C>T	NM_001099784.2	NP_001093254.2:p.(Pro411=)	NC_000016.9:g.30941777C>T	(Likely) benign	1 lab	6911250510
6:31929787 SKIC2 T>C	6	31929787	31929787	T	C	SKIC2	c.1020T>C	NM_006929.4	NP_008860.4:p.(Val340=)	NC_000006.11:g.31929787T>C	(Likely) benign	1 lab	6911b3c87d
4:187534278 FAT1 T>C	4	187534278	187534278	T	C	FAT1	c.9448A>G	NM_005245.3	NP_005236.2:p.(Thr3150Ala)	NC_000004.11:g.187534278T>C	(Likely) benign	1 lab	6915667c58
5:89989848 ADGRV1 T>G	5	89989848	89989848	T	G	ADGRV1	c.7275T>G	NM_032119.4	NP_115495.3:p.(Thr2425=)	NC_000005.9:g.89989848T>G	(Likely) benign	1 lab	691681fc58
9:133569214 EXOSC2 G>A	9	133569214	133569214	G	A	EXOSC2	c.36G>A	NM_014285.7	NP_055100.2:p.(Lys12=)	NC_000009.11:g.133569214G>A	(Likely) benign	1 lab	6918cb3de7
17:41956685 MPP2 G>A	17	41956685	41956685	G	A	MPP2	c.1440C>T	NM_001278381.1	NP_001265310.1:p.(Asn480=)	NC_000017.10:g.41956685G>A	(Likely) benign	1 lab	6919fb8dcd
20:44053151 PIGT C>T	20	44053151	44053151	C	T	PIGT	c.1416C>T	NM_015937.5	NP_057021.2:p.(Ser472=)	NC_000020.10:g.44053151C>T	(Likely) benign	1 lab	691b23f3f6
12:133249241 POLE C>T	12	133249241	133249241	C	T	POLE	c.1658G>A	NM_006231.3	NP_006222.2:p.(Arg553His)	NC_000012.11:g.133249241C>T	VUS	1 lab	691c075952
15:67073744 SMAD6 C>T	15	67073744	67073744	C	T	SMAD6	c.1362C>T	NM_005585.4	NP_005576.3:p.(Ala454=)	NC_000015.9:g.67073744C>T	(Likely) benign	1 lab	691c467b5a
17:29662050 NF1 G>T	17	29662050	29662050	G	T	NF1	c.5943+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29662050G>T	(Likely) pathogenic	1 lab	691c52223e
6:133777689 EYA4 C>T	6	133777689	133777689	C	T	EYA4	c.278-5C>T	NM_004100.4	NP_004091.3:p.?	NC_000006.11:g.133777689C>T	(Likely) benign	1 lab	691d3e1406
22:38120712 TRIOBP C>G	22	38120712	38120712	C	G	TRIOBP	c.2149C>G	NM_001039141.2	NP_001034230.1:p.(Gln717Glu)	NC_000022.10:g.38120712C>G	(Likely) benign	1 lab	691ecdd55d
8:145739347 RECQL4 G>A	8	145739347	145739347	G	A	RECQL4	c.2023C>T	NM_004260.3	NP_004251.3:p.(His675Tyr)	NC_000008.10:g.145739347G>A	(Likely) benign	1 lab	691f274b54
20:5294635 PROKR2 G>C	20	5294635	5294635	G	C	PROKR2	c.381C>G	NM_144773.3	NP_658986.1:p.(Leu127=)	NC_000020.10:g.5294635G>C	(Likely) benign	1 lab	6920e23601
X:50658967 BMP15 C>T	X	50658967	50658967	C	T	BMP15	c.539C>T	NM_005448.2	NP_005439.2:p.(Ala180Val)	NC_000023.10:g.50658967C>T	VUS	1 lab	69218fb7ac
16:2122341 TSC2 C>G	16	2122341	2122341	C	G	TSC2	c.2197C>G	NM_000548.3	NP_000539.2:p.(Leu733Val)	NC_000016.9:g.2122341C>G	(Likely) pathogenic	1 lab	69220a3919
16:77387644 ADAMTS18 G>C	16	77387644	77387644	G	C	ADAMTS18	c.1084C>G	NM_001326358.1	NP_001313287.1:p.(Leu362Val)	NC_000016.9:g.77387644G>C	VUS	1 lab	69225ece29
7:21582963 DNAH11 GA>GA	7	21582963	21582964	GA	GA	DNAH11				NC_000007.13:g.21582963_21582964=	(Likely) benign	1 lab	692488e6e1
4:6303932 WFS1 C>T	4	6303932	6303932	C	T	WFS1	c.2410C>T	NM_006005.3	NP_005996.2:p.(Leu804=)	NC_000004.11:g.6303932C>T	(Likely) benign	1 lab	692512b13b
12:51072630 DIP2B C>G	12	51072630	51072630	C	G	DIP2B	c.1085C>G	NM_173602.3	NP_775873.2:p.(Thr362Arg)	NC_000012.11:g.51072630C>G	VUS	1 lab	f5316feb37
2:15427245 NBAS C>T	2	15427245	15427245	C	T	NBAS	c.5090G>A	NM_015909.3	NP_056993.2:p.(Arg1697His)	NC_000002.11:g.15427245C>T	(Likely) benign	1 lab	6925cf1a20
6:157100396 ARID1B G>GCGCCGC	6	157100396	157100413	G	GCGCCGC	ARID1B	c.1345_1350dup	NM_001346813.1	NP_001333742.1:p.(Pro449_Pro450dup)	NC_000006.11:g.157100408_157100413dup	VUS	1 lab	6925ece925
1:19550001 EMC1 G>A	1	19550001	19550001	G	A	EMC1	c.2265C>T	NM_015047.2	NP_055862.1:p.(Thr755=)	NC_000001.10:g.19550001G>A	(Likely) benign	1 lab	692933a6fb
10:18429630 CACNB2 G>A	10	18429630	18429630	G	A	CACNB2	c.-479G>A	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18429630G>A	(Likely) benign	1 lab	f531d19325
X:139586907 SOX3 C>T	X	139586907	139586907	C	T	SOX3	c.319G>A	NM_005634.2	NP_005625.2:p.(Gly107Ser)	NC_000023.10:g.139586907C>T	VUS	1 lab	692b878d1b
X:129147435 BCORL1 C>T	X	129147435	129147435	C	T	BCORL1	c.687C>T	NM_001184772.2	NP_001171701.1:p.(Ala229=)	NC_000023.10:g.129147435C>T	(Likely) benign	1 lab	693612653e
1:120466424 NOTCH2 G>A	1	120466424	120466424	G	A	NOTCH2	c.4695C>T	NM_024408.3	NP_077719.2:p.(Phe1565=)	NC_000001.10:g.120466424G>A	(Likely) benign	1 lab	692e004f59
10:55944887 PCDH15 T>G	10	55944887	55944887	T	G	PCDH15				NC_000010.10:g.55944887T>G	(Likely) benign	1 lab	692e7cb75f
15:98512553 ARRDC4 C>T	15	98512553	98512553	C	T	ARRDC4	c.826C>T	NM_183376.3	NP_899232.2:p.(Pro276Ser)	NC_000015.9:g.98512553C>T	VUS	1 lab	692eadfe04
17:8159696 PFAS C>A	17	8159696	8159696	C	A	PFAS	c.792C>A	NM_012393.3	NP_036525.1:p.(Asn264Lys)	NC_000017.10:g.8159696C>A	VUS	1 lab	692fdfc238
18:6959369 LAMA1 C>G	18	6959369	6959369	C	G	LAMA1	c.7749G>C	NM_005559.3	NP_005550.2:p.(Ala2583=)	NC_000018.9:g.6959369C>G	(Likely) benign	1 lab	6930bba894
1:197069554 ASPM G>C	1	197069554	197069554	G	C	ASPM	c.8820+7C>G	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197069554G>C	(Likely) benign	1 lab	693221f0e7
5:68830550 OCLN C>T	5	68830550	68830550	C	T	OCLN	c.921C>T	NM_002538.3	NP_002529.1:p.(Asp307=)	NC_000005.9:g.68830550C>T	(Likely) benign	1 lab	69323cfbd8
7:92732491 SAMD9 C>T	7	92732491	92732491	C	T	SAMD9	c.2920G>A	NM_017654.4	NP_060124.2:p.(Glu974Lys)	NC_000007.13:g.92732491C>T	(Likely) pathogenic	1 lab	f535a1e34e
15:93486284 CHD2 C>T	15	93486284	93486284	C	T	CHD2	c.1038C>T	NM_001271.3	NP_001262.3:p.(Asp346=)	NC_000015.9:g.93486284C>T	(Likely) benign	1 lab	6933c1d9fe
X:44966713 KDM6A G>A	X	44966713	44966713	G	A	KDM6A	c.4093G>A	NM_001291415.1	NP_001278344.1:p.(Ala1365Thr)	NC_000023.10:g.44966713G>A	VUS	1 lab	6934d6f08f
12:49426798 KMT2D A>C	12	49426798	49426798	A	C	KMT2D	c.11690T>G	NM_003482.3	NP_003473.3:p.(Leu3897Ter)	NC_000012.11:g.49426798A>C	(Likely) pathogenic	1 lab	69364335f8
6:24523154 ALDH5A1 G>T	6	24523154	24523154	G	T	ALDH5A1	c.1212+1G>T	NM_170740.1	NP_733936.1:p.?	NC_000006.11:g.24523154G>T	(Likely) pathogenic	1 lab	6937172b41
13:32911418 BRCA2 TC>AT	13	32911418	32911419	TC	AT	BRCA2	c.2926_2927delinsAT	NM_000059.3	NP_000050.2:p.(Ser976Ile)	NC_000013.10:g.32911418_32911419delinsAT	VUS	1 lab	6937c7475a
2:202609103 ALS2 A>G	2	202609103	202609103	A	G	ALS2	c.2048T>C	NM_020919.3	NP_065970.2:p.(Leu683Ser)	NC_000002.11:g.202609103A>G	VUS	1 lab	6937f186a1
2:145161480 ZEB2 C>G	2	145161480	145161480	C	G	ZEB2	c.807+3G>C	NM_014795.3	NP_055610.1:p.?	NC_000002.11:g.145161480C>G	VUS	1 lab	6938baf4ab
15:26026244 ATP10A T>C	15	26026244	26026244	T	C	ATP10A	c.576A>G	NM_024490.3	NP_077816.1:p.(Leu192=)	NC_000015.9:g.26026244T>C	(Likely) benign	1 lab	69398c8e7a
6:162864346 PRKN A>T	6	162864346	162864346	A	T	PRKN	c.167T>A	NM_004562.2	NP_004553.2:p.(Val56Glu)	NC_000006.11:g.162864346A>T	(Likely) pathogenic	1 lab	6939acf7ba
20:62324514 RTEL1 G>A	20	62324514	62324514	G	A	RTEL1	c.2870G>A	NM_001283009.1	NP_001269938.1:p.(Arg957Gln)	NC_000020.10:g.62324514G>A	VUS	1 lab	693bafa331
10:101089831 CNNM1 G>A	10	101089831	101089831	G	A	CNNM1	c.687G>A	NM_001345887.1	NP_001332816.1:p.(Ala229=)	NC_000010.10:g.101089831G>A	(Likely) benign	1 lab	693bb295d2
15:23811404 MKRN3 GC>G	15	23811404	23811411	GC	G	MKRN3	c.482del	NM_005664.4	NP_005655.1:p.(Pro161ArgfsTer10)	NC_000015.9:g.23811411del	(Likely) pathogenic	1 lab	f535bbe799
3:46747377 TMIE C>T	3	46747377	46747377	C	T	TMIE	c.191C>T	NM_147196.2	NP_671729.2:p.(Ser64Leu)	NC_000003.11:g.46747377C>T	VUS	1 lab	693ead407a
X:19817757 SH3KBP1 C>CA	X	19817757	19817758	C	CA	SH3KBP1	c.45dup	NM_001024666.2	NP_001019837.1:p.(Glu16Ter)	NC_000023.10:g.19817758dup	VUS	1 lab	693f0c0866
1:111146598 KCNA2 G>A	1	111146598	111146598	G	A	KCNA2	c.807C>T	NM_004974.3	NP_004965.1:p.(Thr269=)	NC_000001.10:g.111146598G>A	(Likely) benign	1 lab	6940d7774c
2:209169637 PIKFYVE C>A	2	209169637	209169637	C	A	PIKFYVE	c.1536C>A	NM_015040.3	NP_055855.2:p.(Ala512=)	NC_000002.11:g.209169637C>A	(Likely) benign	1 lab	69436f20dc
X:16737926 SYAP1 C>A	X	16737926	16737926	C	A	SYAP1	c.79C>A	NM_032796.3	NP_116185.2:p.(Pro27Thr)	NC_000023.10:g.16737926C>A	(Likely) benign	1 lab	6943f033a7
2:210650785 UNC80 C>A	2	210650785	210650785	C	A	UNC80	c.601-5C>A	NM_032504.1	NP_115893.1:p.?	NC_000002.11:g.210650785C>A	(Likely) benign	1 lab	6944e34e32
7:21744130 DNAH11 G>A	7	21744130	21744130	G	A	DNAH11				NC_000007.13:g.21744130G>A	VUS	1 lab	69462e0802
8:2088749 MYOM2 A>G	8	2088749	2088749	A	G	MYOM2	c.3904A>G	NM_003970.4	NP_003961.3:p.(Thr1302Ala)	NC_000008.10:g.2088749A>G	VUS	1 lab	6946f00ebf
10:79745827 POLR3A T>C	10	79745827	79745827	T	C	POLR3A	c.2988+4A>G	NM_007055.3	NP_008986.2:p.?	NC_000010.10:g.79745827T>C	VUS	1 lab	6946f93bc8
13:113742871 MCF2L C>T	13	113742871	113742871	C	T	MCF2L	c.2768-5C>T	NM_001112732.3	NP_001106203.2:p.?	NC_000013.10:g.113742871C>T	(Likely) benign	1 lab	6947aaffa2
6:133783573 EYA4 G>A	6	133783573	133783573	G	A	EYA4	c.538G>A	NM_004100.4	NP_004091.3:p.(Ala180Thr)	NC_000006.11:g.133783573G>A	VUS	1 lab	6949068c60
3:129202316 IFT122 C>T	3	129202316	129202316	C	T	IFT122	c.1807-12C>T	NM_052985.3	NP_443711.2:p.?	NC_000003.11:g.129202316C>T	(Likely) benign	1 lab	69496a852d
8:102611388 GRHL2 C>T	8	102611388	102611388	C	T	GRHL2	c.1098+9C>T	NM_024915.3	NP_079191.2:p.?	NC_000008.10:g.102611388C>T	(Likely) benign	1 lab	694a880291
10:72195394 NODAL C>G	10	72195394	72195394	C	G	NODAL	c.539G>C	NM_018055.4	NP_060525.3:p.(Cys180Ser)	NC_000010.10:g.72195394C>G	(Likely) benign	1 lab	694ae0f311
2:1481344 TPO G>C	2	1481344	1481344	G	C	TPO	c.1306G>C	NM_000547.5	NP_000538.3:p.(Glu436Gln)	NC_000002.11:g.1481344G>C	VUS	1 lab	9004098eeb
16:29395396 NPIPB11 GGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGA>G	16	29395396	29395466	GGAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGGGGAGTGAGCAGACACTCGA	G	NPIPB11	c.800_856del	NM_001310137.5	NP_001297066.2:p.(Leu267_Pro285del)	NC_000016.9:g.29395410_29395466del	(Likely) benign	1 lab	694bae710b
14:105413795 AHNAK2 C>T	14	105413795	105413795	C	T	AHNAK2	c.7993G>A	NM_138420.3	NP_612429.2:p.(Glu2665Lys)	NC_000014.8:g.105413795C>T	(Likely) benign	1 lab	694d7eb33d
17:80048812 FASN G>C	17	80048812	80048812	G	C	FASN	c.1626C>G	NM_004104.5	NP_004095.4:p.(Asp542Glu)	NC_000017.10:g.80048812G>C	(Likely) benign	1 lab	694d81ca03
8:10474106 RP1L1 G>A	8	10474106	10474106	G	A	RP1L1	c.610-9C>T	NM_178857.5	NP_849188.4:p.?	NC_000008.10:g.10474106G>A	(Likely) benign	1 lab	694e62ea7c
9:104133532 BAAT G>C	9	104133532	104133532	G	C	BAAT	c.155C>G	NM_001701.3	NP_001692.1:p.(Ala52Gly)	NC_000009.11:g.104133532G>C	VUS	1 lab	694e75d9c3
9:135940591 CEL G>C	9	135940591	135940591	G	C	CEL	c.505G>C	NM_001807.6	NP_001798.3:p.(Gly169Arg)	NC_000009.11:g.135940591G>C	VUS	1 lab	f536a41528
17:4905817 KIF1C G>A	17	4905817	4905817	G	A	KIF1C	c.488G>A	NM_006612.5	NP_006603.2:p.(Arg163Gln)	NC_000017.10:g.4905817G>A	VUS	1 lab	694f5ace29
1:154573653 ADAR G>A	1	154573653	154573653	G	A	ADAR	c.1465C>T	NM_001111.5	NP_001102.3:p.(Arg489Trp)	NC_000001.10:g.154573653G>A	VUS	1 lab	f5371b6a9c
22:24811667 SPECC1L G>A	22	24811667	24811667	G	A	SPECC1L	c.*1076G>A	NM_015330.4	NP_056145.4:p.?	NC_000022.10:g.24811667G>A	(Likely) benign	1 lab	69509a17e0
11:2185514 TH AC>A	11	2185514	2185517	AC	A	TH	c.1442del	NM_000360.4	NP_000351.2:p.(Gly481ValfsTer13)	NC_000011.9:g.2185517del	VUS	1 lab	695178d59f
16:88495021 ZNF469 C>T	16	88495021	88495021	C	T	ZNF469				NC_000016.9:g.88495021C>T	(Likely) benign	1 lab	6953d47ce1
2:179591922 TTN C>T	2	179591922	179591922	C	T	TTN	c.19219G>A	NM_001256850.1	NP_001243779.1:p.(Val6407Ile)	NC_000002.11:g.179591922C>T	VUS	1 lab	f53a59ae8e
16:3632444 SLX4 C>T	16	3632444	3632444	C	T	SLX4	c.5404G>A	NM_032444.2	NP_115820.2:p.(Asp1802Asn)	NC_000016.9:g.3632444C>T	VUS	1 lab	6958e8f4a6
3:123368046 MYLK G>T	3	123368046	123368046	G	T	MYLK	c.4289-5C>A	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123368046G>T	VUS	1 lab	6959579282
2:27800854 SPATA31H1 T>C	2	27800854	27800854	T	C	SPATA31H1	c.1415T>C	NM_032266.3	NP_115642.3:p.(Val472Ala)	NC_000002.11:g.27800854T>C	(Likely) benign	1 lab	695957b9ce
5:89924645 ADGRV1 C>T	5	89924645	89924645	C	T	ADGRV1	c.1505C>T	NM_032119.4	NP_115495.3:p.(Ala502Val)	NC_000005.9:g.89924645C>T	(Likely) benign	1 lab	695af21b22
16:88787024 PIEZO1 A>T	16	88787024	88787024	A	T	PIEZO1	c.5801T>A	NM_001142864.4	NP_001136336.2:p.(Leu1934Gln)	NC_000016.9:g.88787024A>T	VUS	1 lab	f53b0fe3fa
11:6654775 DCHS1 G>A	11	6654775	6654775	G	A	DCHS1				NC_000011.9:g.6654775G>A	VUS	1 lab	695d04e7c8
17:78064177 CCDC40 GAC>G	17	78064177	78064186	GAC	G	CCDC40	c.2832+502_2832+503del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064185_78064186del	VUS	1 lab	695d988891
1:878764 SAMD11 G>C	1	878764	878764	G	C	SAMD11	c.1689+7G>C	NM_152486.3	NP_689699.2:p.?	NC_000001.10:g.878764G>C	(Likely) benign	1 lab	695e3d17b0
4:15591190 CC2D2A C>G	4	15591190	15591190	C	G	CC2D2A	c.4202C>G	NM_001080522.2	NP_001073991.2:p.(Thr1401Ser)	NC_000004.11:g.15591190C>G	VUS	1 lab	695ea50c04
2:225379325 CUL3 T>C	2	225379325	225379325	T	C	CUL3	c.539+4A>G	NM_003590.4	NP_003581.1:p.?	NC_000002.11:g.225379325T>C	(Likely) benign	1 lab	696006998e
X:13764487 OFD1 G>A	X	13764487	13764487	G	A	OFD1	c.147G>A	NM_001330210.1	NP_001317139.1:p.(Gln49=)	NC_000023.10:g.13764487G>A	(Likely) benign	1 lab	69627f57e3
8:17500223 PDGFRL T>C	8	17500223	17500223	T	C	PDGFRL	c.1041T>C	NM_006207.2	NP_006198.1:p.(Phe347=)	NC_000008.10:g.17500223T>C	(Likely) benign	1 lab	f53d0f2627
X:153175668 ARHGAP4 C>T	X	153175668	153175668	C	T	ARHGAP4	c.2233G>A	NM_001164741.1	NP_001158213.1:p.(Val745Ile)	NC_000023.10:g.153175668C>T	(Likely) benign	1 lab	6963cf35e0
1:245849042 KIF26B C>T	1	245849042	245849042	C	T	KIF26B	c.2757C>T	NM_018012.4	NP_060482.2:p.(Asp919=)	NC_000001.10:g.245849042C>T	(Likely) benign	1 lab	6964f40007
2:179400234 TTN C>T	2	179400234	179400234	C	T	TTN	c.101108G>A	NM_001267550.1	NP_001254479.1:p.(Arg33703Gln)	NC_000002.11:g.179400234C>T	VUS	1 lab	6965ec0801
16:16263499 ABCC6 G>C	16	16263499	16263499	G	C	ABCC6	c.2653+4C>G	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16263499G>C	(Likely) benign	1 lab	6966607409
X:115576116 SLC6A14 G>T	X	115576116	115576116	G	T	SLC6A14	c.687G>T	NM_007231.4	NP_009162.1:p.(Met229Ile)	NC_000023.10:g.115576116G>T	(Likely) benign	1 lab	6966653945
9:88307720 AGTPBP1 T>C	9	88307720	88307720	T	C	AGTPBP1	c.41A>G	NM_001330701.1	NP_001317630.1:p.(Asn14Ser)	NC_000009.11:g.88307720T>C	VUS	1 lab	6967c8adc4
1:231411221 GNPAT C>T	1	231411221	231411221	C	T	GNPAT	c.1914C>T	NM_014236.3	NP_055051.1:p.(Leu638=)	NC_000001.10:g.231411221C>T	(Likely) benign	1 lab	696876609e
19:11346307 DOCK6 G>GA	19	11346307	11346310	G	GA	DOCK6	c.2520dup	NM_020812.3	NP_065863.2:p.(Arg841SerfsTer6)	NC_000019.9:g.11346310dup	(Likely) pathogenic	1 lab	69697fa48f
5:90281162 ADGRV1 C>G	5	90281162	90281162	C	G	ADGRV1	c.17975C>G	NM_032119.4	NP_115495.3:p.(Ser5992Cys)	NC_000005.9:g.90281162C>G	VUS	1 lab	69699f4c87
X:149809865 MTM1 A>G	X	149809865	149809865	A	G	MTM1	c.652A>G	NM_000252.2	NP_000243.1:p.(Thr218Ala)	NC_000023.10:g.149809865A>G	(Likely) benign	1 lab	696a9879ab
16:29923185 KCTD13 C>A	16	29923185	29923185	C	A	KCTD13	c.508G>T	NM_178863.5	NP_849194.1:p.(Val170Leu)	NC_000016.9:g.29923185C>A	(Likely) benign	1 lab	696b58a25d
X:99662941 PCDH19 G>A	X	99662941	99662941	G	A	PCDH19	c.655C>T	NM_001184880.1	NP_001171809.1:p.(Leu219=)	NC_000023.10:g.99662941G>A	(Likely) benign	1 lab	696bedddf9
9:139909497 ABCA2 G>A	9	139909497	139909497	G	A	ABCA2	c.3750C>T	NM_001606.5	NP_001597.2:p.(Ser1250=)	NC_000009.11:g.139909497G>A	(Likely) benign	1 lab	696d57fff6
18:33837000 MOCOS C>T	18	33837000	33837000	C	T	MOCOS	c.2234C>T	NM_017947.3	NP_060417.3:p.(Ser745Phe)	NC_000018.9:g.33837000C>T	VUS	1 lab	696d8298fe
20:47634040 ARFGEF2 A>T	20	47634040	47634040	A	T	ARFGEF2	c.4462A>T	NM_006420.2	NP_006411.2:p.(Thr1488Ser)	NC_000020.10:g.47634040A>T	(Likely) benign	1 lab	696e2868fe
10:71332577 NEUROG3 A>G	10	71332577	71332577	A	G	NEUROG3	c.223T>C	NM_020999.3	NP_066279.2:p.(Leu75=)	NC_000010.10:g.71332577A>G	(Likely) benign	1 lab	696ea3b2fe
3:123383021 MYLK C>T	3	123383021	123383021	C	T	MYLK	c.3916G>A	NM_053025.3	NP_444253.3:p.(Gly1306Ser)	NC_000003.11:g.123383021C>T	VUS	1 lab	696f7d05cc
22:50657765 TUBGCP6 G>A	22	50657765	50657765	G	A	TUBGCP6	c.4436C>T	NM_020461.3	NP_065194.2:p.(Thr1479Met)	NC_000022.10:g.50657765G>A	VUS	1 lab	6970e34d3c
X:13765025 OFD1 G>A	X	13765025	13765025	G	A	OFD1	c.361G>A	NM_001330210.1	NP_001317139.1:p.(Val121Ile)	NC_000023.10:g.13765025G>A	(Likely) benign	1 lab	697260f6e5
12:13364476 EMP1 T>G	12	13364476	13364476	T	G	EMP1	c.32T>G	NM_001423.3	NP_001414.1:p.(Val11Gly)	NC_000012.11:g.13364476T>G	VUS	1 lab	6973dd2090
7:1518072 INTS1 G>A	7	1518072	1518072	G	A	INTS1	c.4560C>T	NM_001080453.3	NP_001073922.2:p.(Thr1520=)	NC_000007.13:g.1518072G>A	(Likely) benign	1 lab	6973fa49cb
Y:14958401 USP9Y C>T	Y	14958401	14958401	C	T	USP9Y	c.6712C>T	NM_004654.3	NP_004645.2:p.(Arg2238Cys)	NC_000024.9:g.14958401C>T	VUS	1 lab	6975bf253b
X:41031136 USP9X G>A	X	41031136	41031136	G	A	USP9X	c.3073G>A	NM_001039591.3	NP_001034680.2:p.(Ala1025Thr)	NC_000023.10:g.41031136G>A	VUS	1 lab	69762065c7
15:41275242 INO80 C>T	15	41275242	41275242	C	T	INO80	c.4271G>A	NM_017553.3	NP_060023.1:p.(Arg1424His)	NC_000015.9:g.41275242C>T	VUS	1 lab	6976212fda
12:80935345 PTPRQ T>C	12	80935345	80935345	T	C	PTPRQ	c.3166T>C	NM_001145026.2	NP_001138498.1:p.(Phe1056Leu)	NC_000012.11:g.80935345T>C	(Likely) benign	1 lab	f53fb09532
14:68238776 ZFYVE26 C>T	14	68238776	68238776	C	T	ZFYVE26	c.5472G>A	NM_015346.3	NP_056161.2:p.(Glu1824=)	NC_000014.8:g.68238776C>T	(Likely) benign	1 lab	6976bf6a07
1:237024423 MTR A>T	1	237024423	237024423	A	T	MTR	c.2044-2A>T	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.237024423A>T	(Likely) benign	1 lab	6977610a72
14:104644087 KIF26A C>T	14	104644087	104644087	C	T	KIF26A	c.4962C>T	NM_015656.1	NP_056471.1:p.(Ser1654=)	NC_000014.8:g.104644087C>T	(Likely) benign	1 lab	69783a81e8
X:132473325 GPC4 G>C	X	132473325	132473325	G	C	GPC4	c.205C>G	NM_001448.2	NP_001439.2:p.(Gln69Glu)	NC_000023.10:g.132473325G>C	(Likely) benign	1 lab	697869a45c
1:115221116 AMPD1 C>A	1	115221116	115221116	C	A	AMPD1	c.1029G>T	NM_000036.2	NP_000027.2:p.(Met343Ile)	NC_000001.10:g.115221116C>A	VUS	1 lab	6979f49c27
15:48797287 FBN1 T>C	15	48797287	48797287	T	C	FBN1	c.1895A>G	NM_000138.4	NP_000129.3:p.(Asp632Gly)	NC_000015.9:g.48797287T>C	VUS	1 lab	6979fcf65e
15:62244032 VPS13C C>T	15	62244032	62244032	C	T	VPS13C	c.4447G>A	NM_001018088.2	NP_001018098.1:p.(Asp1483Asn)	NC_000015.9:g.62244032C>T	(Likely) benign	1 lab	697ae09ea8
X:153696514 PLXNA3 G>A	X	153696514	153696514	G	A	PLXNA3	c.3910G>A	NM_017514.4	NP_059984.3:p.(Val1304Met)	NC_000023.10:g.153696514G>A	(Likely) benign	1 lab	697bbe4790
11:2189081 TH G>T	11	2189081	2189081	G	T	TH	c.737+15C>A	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2189081G>T	(Likely) benign	1 lab	697d560010
20:10620412 JAG1 C>T	20	10620412	10620412	C	T	JAG1	c.3391G>A	NM_000214.3	NP_000205.1:p.(Ala1131Thr)	NC_000020.10:g.10620412C>T	VUS	1 lab	697e0f29af
7:91843205 KRIT1 C>T	7	91843205	91843205	C	T	KRIT1	c.1818+1G>A	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91843205C>T	(Likely) pathogenic	1 lab	697ece3398
X:150349065 GPR50 G>A	X	150349065	150349065	G	A	GPR50	c.1010G>A	NM_004224.3	NP_004215.2:p.(Arg337His)	NC_000023.10:g.150349065G>A	(Likely) benign	1 lab	697f15357b
6:52109222 IL17F T>A	6	52109222	52109222	T	A	IL17F	c.6A>T	NM_052872.3	NP_443104.1:p.(Thr2=)	NC_000006.11:g.52109222T>A	(Likely) benign	1 lab	697f4cb721
4:119237335 PRSS12 A>G	4	119237335	119237335	A	G	PRSS12	c.1292+2T>C	NM_003619.3	NP_003610.2:p.?	NC_000004.11:g.119237335A>G	(Likely) pathogenic	1 lab	697ff116e5
4:1806219 FGFR3 A>G	4	1806219	1806219	A	G	FGFR3	c.1238A>G	NM_000142.4	NP_000133.1:p.(Lys413Arg)	NC_000004.11:g.1806219A>G	VUS	1 lab	69818e2fd8
4:55971029 KDR G>A	4	55971029	55971029	G	A	KDR	c.1768C>T	NM_002253.3	NP_002244.1:p.(Pro590Ser)	NC_000004.11:g.55971029G>A	(Likely) benign	1 lab	6982cf347f
14:68244313 ZFYVE26 C>T	14	68244313	68244313	C	T	ZFYVE26	c.4937G>A	NM_015346.3	NP_056161.2:p.(Arg1646Gln)	NC_000014.8:g.68244313C>T	VUS	1 lab	698359ad62
X:150912211 CNGA2 G>T	X	150912211	150912211	G	T	CNGA2	c.1236G>T	NM_005140.1	NP_005131.1:p.(Trp412Cys)	NC_000023.10:g.150912211G>T	VUS	1 lab	6983a24e22
19:13136367 NFIX G>A	19	13136367	13136367	G	A	NFIX				NC_000019.9:g.13136367G>A	(Likely) pathogenic	1 lab	69849f3467
7:5567391 ACTB GCGGTGGACGATGGAGGGGCCGGACT>G	7	5567391	5567418	GCGGTGGACGATGGAGGGGCCGGACT	G	ACTB	c.1091_1115del	NM_001101.5	NP_001092.1:p.(Glu364AlafsTer10)	NC_000007.13:g.5567394_5567418del	(Likely) pathogenic	1 lab	69853df6c2
15:28361935 HERC2 G>A	15	28361935	28361935	G	A	HERC2	c.13485C>T	NM_004667.5	NP_004658.3:p.(Asn4495=)	NC_000015.9:g.28361935G>A	(Likely) benign	1 lab	69853e0b56
1:155629792 YY1AP1 T>C	1	155629792	155629792	T	C	YY1AP1	c.2323A>G	NM_001198903.1	NP_001185832.1:p.(Met775Val)	NC_000001.10:g.155629792T>C	(Likely) benign	1 lab	6986157f64
X:108921604 ACSL4 G>A	X	108921604	108921604	G	A	ACSL4	c.819C>T	NM_022977.2	NP_075266.1:p.(Ala273=)	NC_000023.10:g.108921604G>A	(Likely) benign	1 lab	69881c8a96
19:13397345 CACNA1A T>G	19	13397345	13397345	T	G	CACNA1A	c.3537A>C	NM_023035.2	NP_075461.2:p.(Pro1179=)	NC_000019.9:g.13397345T>G	(Likely) benign	1 lab	6988ddb381
X:125299097 DCAF12L2 T>C	X	125299097	125299097	T	C	DCAF12L2	c.811A>G	NM_001013628.2	NP_001013650.1:p.(Ser271Gly)	NC_000023.10:g.125299097T>C	(Likely) benign	1 lab	698b15c942
19:17892603 FCHO1 C>T	19	17892603	17892603	C	T	FCHO1	c.1911C>T	NM_001161357.1	NP_001154829.1:p.(His637=)	NC_000019.9:g.17892603C>T	(Likely) benign	1 lab	698bf744c1
17:80710181 TBCD G>T	17	80710181	80710181	G	T	TBCD	c.112G>T	NM_005993.4	NP_005984.3:p.(Ala38Ser)	NC_000017.10:g.80710181G>T	(Likely) benign	1 lab	698cc132c4
12:39698647 KIF21A A>G	12	39698647	39698647	A	G	KIF21A	c.4536T>C	NM_001173464.1	NP_001166935.1:p.(Thr1512=)	NC_000012.11:g.39698647A>G	(Likely) benign	1 lab	698e8fb671
7:129691173 ZC3HC1 C>A	7	129691173	129691173	C	A	ZC3HC1	c.34G>T	NM_016478.4	NP_057562.3:p.(Val12Leu)	NC_000007.13:g.129691173C>A	(Likely) benign	1 lab	698e995c21
19:6684594 C3 G>A	19	6684594	6684594	G	A	C3	c.4097C>T	NM_000064.2	NP_000055.2:p.(Thr1366Ile)	NC_000019.9:g.6684594G>A	(Likely) benign	1 lab	698f724c84
5:137520268 KIF20A T>G	5	137520268	137520268	T	G	KIF20A	c.1586T>G	NM_005733.3	NP_005724.1:p.(Leu529Arg)	NC_000005.9:g.137520268T>G	(Likely) benign	1 lab	6990917e30
20:3211714 SLC4A11 G>A	20	3211714	3211714	G	A	SLC4A11	c.1172-10C>T	NM_001174090.1	NP_001167561.1:p.?	NC_000020.10:g.3211714G>A	(Likely) benign	1 lab	69909fae8d
2:27429783 MISSING C>T	2	27429783	27429783	C	T	MISSING				NC_000002.11:g.27429783C>T	VUS	1 lab	69923f16fe
7:158380260 PTPRN2 C>T	7	158380260	158380260	C	T	PTPRN2	c.102G>A	NM_002847.4	NP_002838.2:p.(Pro34=)	NC_000007.13:g.158380260C>T	(Likely) benign	1 lab	6992937e27
1:202914152 ADIPOR1 G>A	1	202914152	202914152	G	A	ADIPOR1	c.576C>T	NM_001290557.1	NP_001277486.1:p.(Thr192=)	NC_000001.10:g.202914152G>A	(Likely) benign	1 lab	699469d29f
16:3790396 CREBBP T>C	16	3790396	3790396	T	C	CREBBP	c.4133+4A>G	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3790396T>C	(Likely) benign	1 lab	6995311f43
X:153130846 L1CAM C>T	X	153130846	153130846	C	T	L1CAM	c.2657G>A	NM_001278116.1	NP_001265045.1:p.(Arg886Gln)	NC_000023.10:g.153130846C>T	(Likely) benign	1 lab	69954176db
5:176019740 CDHR2 G>A	5	176019740	176019740	G	A	CDHR2	c.3751G>A	NM_001171976.1	NP_001165447.1:p.(Asp1251Asn)	NC_000005.9:g.176019740G>A	(Likely) benign	1 lab	6997d9332a
11:61724292 BEST1 C>T	11	61724292	61724292	C	T	BEST1	c.482-24C>T	NM_004183.3	NP_004174.1:p.?	NC_000011.9:g.61724292C>T	(Likely) benign	1 lab	6998796c88
17:33510505 UNC45B C>T	17	33510505	33510505	C	T	UNC45B	c.2433C>T	NM_001033576.1	NP_001028748.1:p.(Cys811=)	NC_000017.10:g.33510505C>T	(Likely) benign	1 lab	699a9d57b2
17:41244247 BRCA1 T>A	17	41244247	41244247	T	A	BRCA1	c.3301A>T	NM_007294.3	NP_009225.1:p.(Ser1101Cys)	NC_000017.10:g.41244247T>A	(Likely) benign	1 lab	699ab4d1ce
20:62192799 HELZ2 C>T	20	62192799	62192799	C	T	HELZ2	c.6857G>A	NM_001037335.2	NP_001032412.2:p.(Arg2286Gln)	NC_000020.10:g.62192799C>T	VUS	1 lab	699ae3f6e4
X:40541932 MED14 A>G	X	40541932	40541932	A	G	MED14	c.2288T>C	NM_004229.3	NP_004220.2:p.(Val763Ala)	NC_000023.10:g.40541932A>G	VUS	1 lab	699bca8fba
X:43590545 MAOA G>A	X	43590545	43590545	G	A	MAOA	c.304G>A	NM_001270458.1	NP_001257387.1:p.(Gly102Arg)	NC_000023.10:g.43590545G>A	(Likely) benign	1 lab	699c250546
6:100061145 PRDM13 C>G	6	100061145	100061145	C	G	PRDM13	c.634C>G	NM_021620.3	NP_067633.2:p.(Pro212Ala)	NC_000006.11:g.100061145C>G	(Likely) benign	1 lab	699db320ea
3:15643228 BTD A>C	3	15643228	15643228	A	C	BTD	c.1A>C	NM_001281723.2	NP_001268652.1:p.(Met1?)	NC_000003.11:g.15643228A>C	VUS	1 lab	699e3ad385
8:11172568 MTMR9 C>A	8	11172568	11172568	C	A	MTMR9	c.1108C>A	NM_015458.4	NP_056273.2:p.(Leu370Met)	NC_000008.10:g.11172568C>A	VUS	1 lab	699f1dbf4b
16:57918141 CNGB1 C>G	16	57918141	57918141	C	G	CNGB1	c.3683G>C	NM_001297.4	NP_001288.3:p.(Ser1228Thr)	NC_000016.9:g.57918141C>G	VUS	1 lab	699f86f5a3
17:79478452 ACTG1 G>A	17	79478452	79478452	G	A	ACTG1	c.564C>T	NM_001199954.2	NP_001186883.1:p.(Tyr188=)	NC_000017.10:g.79478452G>A	(Likely) benign	1 lab	699ff14de0
X:152031182 NSDHL G>A	X	152031182	152031182	G	A	NSDHL	c.457G>A	NM_015922.3	NP_057006.1:p.(Val153Ile)	NC_000023.10:g.152031182G>A	(Likely) benign	1 lab	69a15adee6
9:95003158 IARS1 CA>C	9	95003158	95003161	CA	C	IARS1	c.3262del	NM_002161.6	NP_002152.2:p.(Cys1088ValfsTer25)	NC_000009.11:g.95003161del	VUS	1 lab	69a1a084ad
22:25603049 CRYBB3 G>T	22	25603049	25603049	G	T	CRYBB3	c.506G>T	NM_004076.4	NP_004067.1:p.(Arg169Leu)	NC_000022.10:g.25603049G>T	VUS	1 lab	69a2b51134
19:18990052 CERS1 G>A	19	18990052	18990052	G	A	CERS1	c.898C>T	NM_021267.4	NP_067090.1:p.(Leu300=)	NC_000019.9:g.18990052G>A	(Likely) benign	1 lab	69a39d2529
9:131862931 CRAT C>A	9	131862931	131862931	C	A	CRAT	c.780G>T	NM_001257363.2	NP_001244292.1:p.(Lys260Asn)	NC_000009.11:g.131862931C>A	VUS	1 lab	69a419920b
9:710911 KANK1 G>C	9	710911	710911	G	C	KANK1	c.145G>C	NM_001256877.2	NP_001243806.1:p.(Val49Leu)	NC_000009.11:g.710911G>C	VUS	1 lab	69a4fdce78
10:131639309 EBF3 C>CCCCCA	10	131639309	131639314	C	CCCCCA	EBF3	c.1346-14_1346-13insTGGGG	NM_001005463.3	NP_001005463.1:p.?	NC_000010.10:g.131639313_131639314insACCCC	VUS	1 lab	f541b87329
8:12957432 DLC1 G>A	8	12957432	12957432	G	A	DLC1	c.2414C>T	NM_182643.2	NP_872584.2:p.(Thr805Met)	NC_000008.10:g.12957432G>A	(Likely) benign	1 lab	69a6a33a76
3:123441054 MYLK C>T	3	123441054	123441054	C	T	MYLK	c.1725G>A	NM_053025.3	NP_444253.3:p.(Pro575=)	NC_000003.11:g.123441054C>T	(Likely) benign	1 lab	69a6f66d1d
4:5667244 EVC2 G>A	4	5667244	5667244	G	A	EVC2	c.1003C>T	NM_147127.5	NP_667338.3:p.(Arg335Trp)	NC_000004.11:g.5667244G>A	(Likely) benign	1 lab	f542fabd73
11:17599971 OTOG C>T	11	17599971	17599971	C	T	OTOG	c.2693C>T	NM_001277269.1	NP_001264198.1:p.(Thr898Met)	NC_000011.9:g.17599971C>T	(Likely) benign	1 lab	69ab37877e
14:55509774 SOCS4 T>C	14	55509774	55509774	T	C	SOCS4	c.15T>C	NM_199421.2	NP_955453.1:p.(Asn5=)	NC_000014.8:g.55509774T>C	(Likely) benign	1 lab	69ab5107c1
16:50733809 NOD2 G>A	16	50733809	50733809	G	A	NOD2	c.484G>A	NM_022162.1	NP_071445.1:p.(Val162Ile)	NC_000016.9:g.50733809G>A	(Likely) benign	1 lab	69abe9a0cb
2:163133348 IFIH1 G>C	2	163133348	163133348	G	C	IFIH1	c.2153C>G	NM_022168.4	NP_071451.2:p.(Ser718Ter)	NC_000002.11:g.163133348G>C	(Likely) pathogenic	1 lab	f543ee5ad7
1:19166140 TAS1R2 C>T	1	19166140	19166140	C	T	TAS1R2	c.2473G>A	NM_152232.2	NP_689418.2:p.(Ala825Thr)	NC_000001.10:g.19166140C>T	VUS	1 lab	69b039a919
6:161160247 PLG G>A	6	161160247	161160247	G	A	PLG	c.2018+7G>A	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161160247G>A	(Likely) benign	1 lab	69b0c7d4be
12:94072595 CRADD G>C	12	94072595	94072595	G	C	CRADD	c.45G>C	NM_003805.4	NP_003796.1:p.(Glu15Asp)	NC_000012.11:g.94072595G>C	(Likely) benign	1 lab	69b0d452ce
8:10467360 RP1L1 C>T	8	10467360	10467360	C	T	RP1L1	c.4248G>A	NM_178857.5	NP_849188.4:p.(Pro1416=)	NC_000008.10:g.10467360C>T	(Likely) benign	1 lab	69b2f694ad
1:175331843 TNR C>T	1	175331843	175331843	C	T	TNR	c.2810G>A	NM_003285.2	NP_003276.3:p.(Arg937Gln)	NC_000001.10:g.175331843C>T	VUS	1 lab	69b4935c47
5:127637135 FBN2 A>T	5	127637135	127637135	A	T	FBN2	c.5985T>A	NM_001999.3	NP_001990.2:p.(Gly1995=)	NC_000005.9:g.127637135A>T	(Likely) benign	1 lab	69b54c1dec
17:4849246 PFN1 G>A	17	4849246	4849246	G	A	PFN1	c.372C>T	NM_005022.3	NP_005013.1:p.(Ile124=)	NC_000017.10:g.4849246G>A	(Likely) benign	1 lab	69b55d6b4f
17:7626951 DNAH2 C>T	17	7626951	7626951	C	T	DNAH2	c.172C>T	NM_020877.3	NP_065928.2:p.(Arg58Trp)	NC_000017.10:g.7626951C>T	(Likely) benign	1 lab	69b688ed92
4:36317952 DTHD1 C>T	4	36317952	36317952	C	T	DTHD1	c.1809C>T	NM_001170700.2	NP_001164171.1:p.(Asp603=)	NC_000004.11:g.36317952C>T	(Likely) benign	1 lab	69b69bbb66
17:29667624 NF1 C>T	17	29667624	29667624	C	T	NF1	c.6960C>T	NM_000267.3	NP_000258.1:p.(Asn2320=)	NC_000017.10:g.29667624C>T	(Likely) benign	1 lab	69b7296f09
20:3870030 PANK2 C>A	20	3870030	3870030	C	A	PANK2	c.283C>A	NM_153638.2	NP_705902.2:p.(Leu95Ile)	NC_000020.10:g.3870030C>A	VUS	1 lab	9143acb7ae
1:9809697 CLSTN1 G>A	1	9809697	9809697	G	A	CLSTN1	c.807C>T	NM_001009566.2	NP_001009566.1:p.(Asn269=)	NC_000001.10:g.9809697G>A	(Likely) benign	1 lab	69b73d2fe2
9:135781381 TSC1 G>A	9	135781381	135781381	G	A	TSC1	c.1584C>T	NM_000368.4	NP_000359.1:p.(Gly528=)	NC_000009.11:g.135781381G>A	(Likely) benign	1 lab	69b8c4e9b7
15:62315982 VPS13C T>C	15	62315982	62315982	T	C	VPS13C	c.511A>G	NM_001018088.2	NP_001018098.1:p.(Lys171Glu)	NC_000015.9:g.62315982T>C	(Likely) benign	1 lab	69ba98a0f4
22:36695053 MYH9 G>A	22	36695053	36695053	G	A	MYH9	c.3012C>T	NM_002473.5	NP_002464.1:p.(Phe1004=)	NC_000022.10:g.36695053G>A	(Likely) benign	1 lab	69bb0f4b63
15:89755019 RLBP1 A>G	15	89755019	89755019	A	G	RLBP1	c.639T>C	NM_000326.4	NP_000317.1:p.(Ala213=)	NC_000015.9:g.89755019A>G	(Likely) benign	1 lab	69bb4d4550
X:21666963 CNKSR2 G>A	X	21666963	21666963	G	A	CNKSR2	c.2707G>A	NM_014927.4	NP_055742.2:p.(Glu903Lys)	NC_000023.10:g.21666963G>A	(Likely) benign	1 lab	69bb88376f
X:66766362 AR C>T	X	66766362	66766362	C	T	AR	c.1374C>T	NM_000044.4	NP_000035.2:p.(Gly458=)	NC_000023.10:g.66766362C>T	(Likely) benign	1 lab	69bbf4f7b8
15:66995970 SMAD6 C>T	15	66995970	66995970	C	T	SMAD6	c.374C>T	NM_005585.4	NP_005576.3:p.(Thr125Ile)	NC_000015.9:g.66995970C>T	VUS	1 lab	69bc37cf29
5:14479443 TRIO T>C	5	14479443	14479443	T	C	TRIO	c.6227T>C	NM_007118.3	NP_009049.2:p.(Ile2076Thr)	NC_000005.9:g.14479443T>C	VUS	1 lab	69bc7689a1
13:109792917 MYO16 G>C	13	109792917	109792917	G	C	MYO16	c.4357G>C	NM_001198950.3	NP_001185879.1:p.(Val1453Leu)	NC_000013.10:g.109792917G>C	VUS	1 lab	69bc833f60
X:73961069 NEXMIF C>T	X	73961069	73961069	C	T	NEXMIF	c.3323G>A	NM_001008537.2	NP_001008537.1:p.(Ser1108Asn)	NC_000023.10:g.73961069C>T	(Likely) benign	1 lab	69bd3c64c8
3:49163209 LAMB2 T>A	3	49163209	49163209	T	A	LAMB2	c.2459A>T	NM_002292.3	NP_002283.3:p.(Tyr820Phe)	NC_000003.11:g.49163209T>A	(Likely) benign	1 lab	69bd932814
X:76940022 ATRX T>C	X	76940022	76940022	T	C	ATRX	c.726A>G	NM_000489.5	NP_000480.3:p.(Lys242=)	NC_000023.10:g.76940022T>C	(Likely) benign	1 lab	69be2bcf09
1:5927936 NPHP4 A>G	1	5927936	5927936	A	G	NPHP4	c.3336T>C	NM_015102.4	NP_055917.1:p.(Gly1112=)	NC_000001.10:g.5927936A>G	(Likely) benign	1 lab	69bfa207ab
17:29664375 NF1 T>G	17	29664375	29664375	T	G	NF1	c.6365-11T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664375T>G	(Likely) pathogenic	1 lab	69c2127e05
7:21628849 DNAH11 C>G	7	21628849	21628849	C	G	DNAH11				NC_000007.13:g.21628849C>G	VUS	1 lab	69c2ebb159
18:29207017 B4GALT6 C>G	18	29207017	29207017	C	G	B4GALT6	c.844G>C	NM_004775.3	NP_004766.2:p.(Gly282Arg)	NC_000018.9:g.29207017C>G	VUS	1 lab	69c722b28b
4:1807389 FGFR3 G>T	4	1807389	1807389	G	T	FGFR3	c.1644G>T	NM_001163213.1	NP_001156685.1:p.(Thr548=)	NC_000004.11:g.1807389G>T	(Likely) benign	1 lab	69c7313594
X:115568987 SLC6A14 T>C	X	115568987	115568987	T	C	SLC6A14	c.78T>C	NM_007231.4	NP_009162.1:p.(His26=)	NC_000023.10:g.115568987T>C	(Likely) benign	1 lab	69c796500d
14:91739122 CCDC88C C>T	14	91739122	91739122	C	T	CCDC88C	c.5934G>A	NM_001080414.3	NP_001073883.2:p.(Pro1978=)	NC_000014.8:g.91739122C>T	(Likely) benign	1 lab	69c83395c1
2:38302540 CYP1B1 C>T	2	38302540	38302540	C	T	CYP1B1	c.-1-8G>A	NM_000104.3	NP_000095.2:p.?	NC_000002.11:g.38302540C>T	(Likely) benign	1 lab	69c890df57
15:101718821 CHSY1 C>T	15	101718821	101718821	C	T	CHSY1	c.1181G>A	NM_014918.4	NP_055733.2:p.(Arg394Gln)	NC_000015.9:g.101718821C>T	VUS	1 lab	69c9f08063
9:104340121 GRIN3A T>C	9	104340121	104340121	T	C	GRIN3A	c.2937A>G	NM_133445.2	NP_597702.2:p.(Leu979=)	NC_000009.11:g.104340121T>C	(Likely) benign	1 lab	69cb3226d7
X:31222203 DMD A>G	X	31222203	31222203	A	G	DMD	c.9313T>C	NM_004010.3	NP_004001.1:p.(Phe3105Leu)	NC_000023.10:g.31222203A>G	VUS	1 lab	69cbabf967
11:12951716 TEAD1 C>T	11	12951716	12951716	C	T	TEAD1	c.1015-5C>T	NM_021961.5	NP_068780.2:p.?	NC_000011.9:g.12951716C>T	(Likely) benign	1 lab	69cc8a56f6
1:74835261 TNNI3K G>A	1	74835261	74835261	G	A	TNNI3K	c.1659G>A	NM_015978.2	NP_057062.1:p.(Glu553=)	NC_000001.10:g.74835261G>A	(Likely) benign	1 lab	69cc96c240
X:148571951 IDS G>T	X	148571951	148571951	G	T	IDS	c.900C>A	NM_000202.7	NP_000193.1:p.(Tyr300Ter)	NC_000023.10:g.148571951G>T	(Likely) pathogenic	1 lab	69ce58e800
1:235897146 LYST TA>T	1	235897146	235897148	TA	T	LYST	c.8595del	NM_001301365.1	NP_001288294.1:p.(Asn2866ThrfsTer21)	NC_000001.10:g.235897148del	(Likely) pathogenic	1 lab	f54869d45b
2:213872275 IKZF2 C>T	2	213872275	213872275	C	T	IKZF2	c.1312G>A	NM_001079526.2	NP_001072994.1:p.(Glu438Lys)	NC_000002.11:g.213872275C>T	VUS	1 lab	f5492cde40
9:131351105 SPTAN1 G>A	9	131351105	131351105	G	A	SPTAN1	c.2889G>A	NM_001363759.1	NP_001350688.1:p.(Thr963=)	NC_000009.11:g.131351105G>A	(Likely) benign	1 lab	69cf579df3
17:29559188 NF1 A>G	17	29559188	29559188	A	G	NF1	c.3295A>G	NM_000267.3	NP_000258.1:p.(Lys1099Glu)	NC_000017.10:g.29559188A>G	(Likely) pathogenic	1 lab	69d1cfa45b
17:41256182 BRCA1 CG>C	17	41256182	41256184	CG	C	BRCA1	c.397del	NM_007294.4	NP_009225.1:p.(Arg133ValfsTer30)	NC_000017.10:g.41256184del	(Likely) pathogenic	1 lab	f54973cf7e
11:22248913 ANO5 T>C	11	22248913	22248913	T	C	ANO5	c.429T>C	NM_213599.2	NP_998764.1:p.(Tyr143=)	NC_000011.9:g.22248913T>C	(Likely) benign	1 lab	69d49ecec6
15:35085517 ACTC1 G>A	15	35085517	35085517	G	A	ACTC1	c.383C>T	NM_005159.4	NP_005150.1:p.(Thr128Ile)	NC_000015.9:g.35085517G>A	(Likely) pathogenic	1 lab	69d7d8e4f2
12:80707362 OTOGL A>G	12	80707362	80707362	A	G	OTOGL	c.3530A>G	NM_173591.3	NP_775862.3:p.(Lys1177Arg)	NC_000012.11:g.80707362A>G	VUS	1 lab	69d9db268e
2:179636104 TTN G>A	2	179636104	179636104	G	A	TTN	c.7950C>T	NM_001267550.1	NP_001254479.1:p.(Gly2650=)	NC_000002.11:g.179636104G>A	VUS	1 lab	69da1ff037
19:40872764 PLD3 G>A	19	40872764	40872764	G	A	PLD3	c.187G>A	NM_012268.3	NP_036400.2:p.(Gly63Ser)	NC_000019.9:g.40872764G>A	(Likely) benign	1 lab	69dd1d2e39
7:48520639 ABCA13 C>G	7	48520639	48520639	C	G	ABCA13	c.12982C>G	NM_152701.4	NP_689914.3:p.(Pro4328Ala)	NC_000007.13:g.48520639C>G	VUS	1 lab	69de54ab84
1:68564378 WLS A>T	1	68564378	68564378	A	T	WLS	c.1569T>A	NM_001002292.3	NP_001002292.3:p.(Tyr523Ter)	NC_000001.10:g.68564378A>T	VUS	1 lab	69e10a5de4
17:78064163 CCDC40 G>A	17	78064163	78064163	G	A	CCDC40	c.3058G>A	NM_001243342.1	NP_001230271.1:p.(Val1020Met)	NC_000017.10:g.78064163G>A	(Likely) benign	1 lab	69e161d2ba
8:61769390 CHD7 A>G	8	61769390	61769390	A	G	CHD7				NC_000008.10:g.61769390A>G	(Likely) benign	1 lab	69e16427b2
22:41922383 ACO2 G>A	22	41922383	41922383	G	A	ACO2	c.1879G>A	NM_001098.2	NP_001089.1:p.(Gly627Ser)	NC_000022.10:g.41922383G>A	(Likely) benign	1 lab	69e1aa1afd
X:124455213 TEX13C C>T	X	124455213	124455213	C	T	TEX13C	c.1245C>T	NM_001195272.2	NP_001182201.1:p.(Asp415=)	NC_000023.10:g.124455213C>T	(Likely) benign	1 lab	69e2c890f0
5:112179277 APC G>A	5	112179277	112179277	G	A	APC				NC_000005.9:g.112179277G>A	(Likely) benign	1 lab	69e3ac6ba3
X:70832719 GCNA T>G	X	70832719	70832719	T	G	GCNA	c.1963T>G	NM_052957.4	NP_443189.1:p.(Cys655Gly)	NC_000023.10:g.70832719T>G	(Likely) benign	1 lab	69e3f10601
X:153008506 ABCD1 G>A	X	153008506	153008506	G	A	ABCD1	c.1846G>A	NM_000033.4	NP_000024.2:p.(Ala616Thr)	NC_000023.10:g.153008506G>A	(Likely) pathogenic	1 lab	f54979346a
15:27184482 GABRA5 C>T	15	27184482	27184482	C	T	GABRA5	c.725-590C>T	NM_000810.4	NP_000801.1:p.?	NC_000015.9:g.27184482C>T	(Likely) benign	1 lab	f54b5fa53d
2:49189921 FSHR C>T	2	49189921	49189921	C	T	FSHR	c.2039G>A	NM_000145.4	NP_000136.2:p.(Ser680Asn)	NC_000002.11:g.49189921C>T	(Likely) benign	1 lab	f54c61214e
12:49426623 KMT2D TAGCTGCTGTTGCTGCTGTTGA>T	12	49426623	49426649	TAGCTGCTGTTGCTGCTGTTGA	T	KMT2D	c.11844_11864del	NM_003482.4	NP_003473.3:p.(Leu3955_Gln3961del)	NC_000012.11:g.49426629_49426649del	VUS	1 lab	69e616e65c
8:11679255 FDFT1 T>TC	8	11679255	11679256	T	TC	FDFT1	c.382-3dup	NM_001287742.1	NP_001274671.1:p.?	NC_000008.10:g.11679256dup	VUS	1 lab	69e73eb572
17:29550586 NF1 G>A	17	29550586	29550586	G	A	NF1	c.1845+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550586G>A	(Likely) pathogenic	1 lab	69e74e3117
6:161173155 PLG G>A	6	161173155	161173155	G	A	PLG	c.2134G>A	NM_000301.3	NP_000292.1:p.(Gly712Arg)	NC_000006.11:g.161173155G>A	VUS	1 lab	69e8ba020e
1:5927887 NPHP4 C>T	1	5927887	5927887	C	T	NPHP4	c.3385G>A	NM_015102.4	NP_055917.1:p.(Val1129Met)	NC_000001.10:g.5927887C>T	VUS	1 lab	69ea29063b
8:48878747 MCM4 A>G	8	48878747	48878747	A	G	MCM4	c.833A>G	NM_005914.4	NP_005905.2:p.(Asp278Gly)	NC_000008.10:g.48878747A>G	VUS	1 lab	69ea717488
6:10404960 TFAP2A A>G	6	10404960	10404960	A	G	TFAP2A	c.527T>C	NM_001032280.2	NP_001027451.1:p.(Leu176Pro)	NC_000006.11:g.10404960A>G	VUS	1 lab	69eb37e3bd
15:41372096 INO80 G>A	15	41372096	41372096	G	A	INO80	c.934C>T	NM_017553.3	NP_060023.1:p.(His312Tyr)	NC_000015.9:g.41372096G>A	VUS	1 lab	69eb676b79
17:34171597 TAF15 AGCAGCG>A	17	34171597	34171604	AGCAGCG	A	TAF15	c.1296_1301del	NM_139215.3	NP_631961.1:p.(Ser433_Gly434del)	NC_000017.10:g.34171599_34171604del	VUS	1 lab	f54cce6acc
16:57954393 CNGB1 G>A	16	57954393	57954393	G	A	CNGB1	c.1699C>T	NM_001297.4	NP_001288.3:p.(Arg567Trp)	NC_000016.9:g.57954393G>A	VUS	1 lab	69ef78a85e
8:134107457 TG G>A	8	134107457	134107457	G	A	TG	c.7404+5G>A	NM_003235.4	NP_003226.4:p.?	NC_000008.10:g.134107457G>A	(Likely) benign	1 lab	69ef7aeb32
1:161332241 SDHC C>T	1	161332241	161332241	C	T	SDHC	c.364C>T	NM_001035511.1	NP_001030588.1:p.(His122Tyr)	NC_000001.10:g.161332241C>T	VUS	1 lab	69f1f5ae33
6:3225876 TUBB2B G>T	6	3225876	3225876	G	T	TUBB2B	c.447C>A	NM_178012.4	NP_821080.1:p.(Thr149=)	NC_000006.11:g.3225876G>T	(Likely) benign	1 lab	69f2577c9b
3:132222194 DNAJC13 C>T	3	132222194	132222194	C	T	DNAJC13	c.4868C>T	NM_001329126.1	NP_001316055.1:p.(Ala1623Val)	NC_000003.11:g.132222194C>T	VUS	1 lab	69f3398593
1:196684768 CFH A>G	1	196684768	196684768	A	G	CFH	c.1565A>G	NM_000186.3	NP_000177.2:p.(Asp522Gly)	NC_000001.10:g.196684768A>G	VUS	1 lab	69f3f48086
13:32911601 BRCA2 C>T	13	32911601	32911601	C	T	BRCA2	c.3109C>T	NM_000059.3	NP_000050.2:p.(Gln1037Ter)	NC_000013.10:g.32911601C>T	(Likely) pathogenic	1 lab	69ea9bde2a
6:56346870 DST C>T	6	56346870	56346870	C	T	DST	c.15152G>A	NM_001144769.2	NP_001138241.1:p.(Arg5051Gln)	NC_000006.11:g.56346870C>T	VUS	1 lab	69f579f16b
8:17919254 ASAH1 GAA>G	8	17919254	17919259	GAA	G	ASAH1	c.649-7_649-6del	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17919258_17919259del	VUS	1 lab	69f591bcf8
5:13759044 DNAH5 G>A	5	13759044	13759044	G	A	DNAH5	c.10330C>T	NM_001369.2	NP_001360.1:p.(Leu3444=)	NC_000005.9:g.13759044G>A	(Likely) benign	1 lab	69f5c02868
15:51799436 DMXL2 G>A	15	51799436	51799436	G	A	DMXL2	c.2659C>T	NM_001174116.1	NP_001167587.1:p.(Pro887Ser)	NC_000015.9:g.51799436G>A	VUS	1 lab	69f641b8f8
15:101445761 ALDH1A3 C>T	15	101445761	101445761	C	T	ALDH1A3	c.1102C>T	NM_000693.3	NP_000684.2:p.(Leu368=)	NC_000015.9:g.101445761C>T	(Likely) benign	1 lab	69f7636eea
2:167085309 SCN9A A>G	2	167085309	167085309	A	G	SCN9A	c.4065T>C	NM_002977.3	NP_002968.1:p.(Asn1355=)	NC_000002.11:g.167085309A>G	(Likely) benign	1 lab	f54f841342
17:44073739 MAPT G>A	17	44073739	44073739	G	A	MAPT	c.557-26G>A	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44073739G>A	(Likely) benign	1 lab	69fa7b8198
16:31196396 FUS C>G	16	31196396	31196396	C	G	FUS	c.660C>G	NM_004960.3	NP_004951.1:p.(Gly220=)	NC_000016.9:g.31196396C>G	(Likely) benign	1 lab	69fb41de7a
2:152359946 NEB T>C	2	152359946	152359946	T	C	NEB	c.23857A>G	NM_001271208.1	NP_001258137.1:p.(Lys7953Glu)	NC_000002.11:g.152359946T>C	VUS	1 lab	69fc417985
1:156846287 NTRK1 C>T	1	156846287	156846287	C	T	NTRK1	c.1728C>T	NM_002529.3	NP_002520.2:p.(Phe576=)	NC_000001.10:g.156846287C>T	(Likely) benign	1 lab	69fcebb902
16:75662528 KARS1 G>A	16	75662528	75662528	G	A	KARS1	c.1718C>T	NM_001130089.1	NP_001123561.1:p.(Ala573Val)	NC_000016.9:g.75662528G>A	VUS	1 lab	69fdc66c2b
16:2167580 PKD1 G>A	16	2167580	2167580	G	A	PKD1	c.1295C>T	NM_001009944.2	NP_001009944.2:p.(Ala432Val)	NC_000016.9:g.2167580G>A	VUS	1 lab	69ff50b496
20:40054758 CHD6 G>A	20	40054758	40054758	G	A	CHD6	c.4104C>T	NM_032221.4	NP_115597.3:p.(Ser1368=)	NC_000020.10:g.40054758G>A	(Likely) benign	1 lab	69ff683699
10:69684904 HERC4 G>A	10	69684904	69684904	G	A	HERC4	c.2903C>T	NM_022079.2	NP_071362.1:p.(Thr968Met)	NC_000010.10:g.69684904G>A	VUS	1 lab	69ff69b1a3
7:65439933 GUSB G>A	7	65439933	65439933	G	A	GUSB	c.1038C>T	NM_000181.3	NP_000172.2:p.(His346=)	NC_000007.13:g.65439933G>A	(Likely) benign	1 lab	69ffde105a
7:151478322 PRKAG2 G>A	7	151478322	151478322	G	A	PRKAG2	c.382C>T	NM_016203.3	NP_057287.2:p.(Arg128Cys)	NC_000007.13:g.151478322G>A	VUS	1 lab	6a00e16dd3
12:57958739 KIF5A C>T	12	57958739	57958739	C	T	KIF5A	c.484C>T	NM_004984.4	NP_004975.2:p.(Arg162Trp)	NC_000012.11:g.57958739C>T	(Likely) pathogenic	1 lab	f559290756
12:54894379 NCKAP1L C>T	12	54894379	54894379	C	T	NCKAP1L	c.276C>T	NM_005337.5	NP_005328.2:p.(Tyr92=)	NC_000012.11:g.54894379C>T	(Likely) benign	1 lab	6a047804b4
4:89034589 ABCG2 C>T	4	89034589	89034589	C	T	ABCG2	c.1060G>A	NM_001348985.1	NP_001335914.1:p.(Gly354Arg)	NC_000004.11:g.89034589C>T	(Likely) benign	1 lab	6a05228dd0
14:105418381 AHNAK2 G>A	14	105418381	105418381	G	A	AHNAK2	c.3407C>T	NM_138420.3	NP_612429.2:p.(Pro1136Leu)	NC_000014.8:g.105418381G>A	(Likely) benign	1 lab	6a061dd3ec
1:235594072 TBCE G>T	1	235594072	235594072	G	T	TBCE	c.613G>T	NM_003193.5	NP_003184.1:p.(Val205Leu)	NC_000001.10:g.235594072G>T	(Likely) benign	1 lab	6a06e8119d
5:90111435 ADGRV1 G>A	5	90111435	90111435	G	A	ADGRV1	c.16079-1G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90111435G>A	(Likely) pathogenic	1 lab	f55c684ddb
X:100748993 ARMCX4 G>A	X	100748993	100748993	G	A	ARMCX4	c.5417G>A	NM_001256155.2	NP_001243084.2:p.(Cys1806Tyr)	NC_000023.10:g.100748993G>A	(Likely) benign	1 lab	6a07b8ceb4
X:153774999 G6PD G>C	X	153774999	153774999	G	C	G6PD	c.-8-621C>G	NM_001042351.3	NP_001035810.1:p.?	NC_000023.10:g.153774999G>C	(Likely) benign	1 lab	f55e0c79ae
1:43886646 SZT2 G>T	1	43886646	43886646	G	T	SZT2	c.1488G>T	NM_015284.3	NP_056099.3:p.(Thr496=)	NC_000001.10:g.43886646G>T	(Likely) benign	1 lab	6a08b44a08
18:72632604 ZNF407 A>G	18	72632604	72632604	A	G	ZNF407	c.5384A>G	NM_017757.2	NP_060227.2:p.(Gln1795Arg)	NC_000018.9:g.72632604A>G	(Likely) benign	1 lab	6a0951d4e8
4:108868634 CYP2U1 T>G	4	108868634	108868634	T	G	CYP2U1	c.1229T>G	NM_183075.2	NP_898898.1:p.(Val410Gly)	NC_000004.11:g.108868634T>G	VUS	1 lab	6a09f814f2
1:6637065 TAS1R1 C>T	1	6637065	6637065	C	T	TAS1R1	c.1529C>T	NM_138697.4	NP_619642.2:p.(Thr510Met)	NC_000001.10:g.6637065C>T	(Likely) benign	1 lab	6a0a279d91
13:103519116 ERCC5 G>A	13	103519116	103519116	G	A	ERCC5	c.2454G>A	NM_000123.3	NP_000114.2:p.(Ala818=)	NC_000013.10:g.103519116G>A	(Likely) benign	1 lab	6a0a907ea5
11:88911585 TYR C>T	11	88911585	88911585	C	T	TYR	c.464C>T	NM_000372.4	NP_000363.1:p.(Thr155Ile)	NC_000011.9:g.88911585C>T	VUS	1 lab	6a0aac3fa1
19:33980968 PEPD GGA>G	19	33980968	33980976	GGA	G	PEPD	c.442-7_442-6del	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33980975_33980976del	(Likely) benign	1 lab	6a0adf6cb4
1:65304225 JAK1 G>A	1	65304225	65304225	G	A	JAK1	c.2890C>T	NM_002227.4	NP_002218.2:p.(Leu964Phe)	NC_000001.10:g.65304225G>A	VUS	1 lab	f55e509acd
15:99467934 IGF1R A>C	15	99467934	99467934	A	C	IGF1R	c.2782+21A>C	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99467934A>C	(Likely) benign	1 lab	6a0bb65555
16:49669583 ZNF423 C>T	16	49669583	49669583	C	T	ZNF423	c.3300G>A	NM_001271620.2	NP_001258549.1:p.(Ser1100=)	NC_000016.9:g.49669583C>T	(Likely) benign	1 lab	6a0d8bb77d
14:23859362 MYH6 C>T	14	23859362	23859362	C	T	MYH6	c.3636G>A	NM_002471.3	NP_002462.2:p.(Leu1212=)	NC_000014.8:g.23859362C>T	(Likely) benign	1 lab	6a0e3890e1
X:31341770 DMD C>A	X	31341770	31341770	C	A	DMD	c.9169G>T	NM_004006.3	NP_003997.2:p.(Val3057Phe)	NC_000023.10:g.31341770C>A	VUS	1 lab	f560a570b7
3:33094988 GLB1 G>A	3	33094988	33094988	G	A	GLB1	c.787C>T	NM_000404.3	NP_000395.2:p.(Pro263Ser)	NC_000003.11:g.33094988G>A	(Likely) pathogenic	1 lab	6a1019fd36
2:182543432 NEUROD1 T>C	2	182543432	182543432	T	C	NEUROD1	c.156A>G	NM_002500.4	NP_002491.2:p.(Ser52=)	NC_000002.11:g.182543432T>C	(Likely) benign	1 lab	6a11df133e
2:179472904 TTN C>A	2	179472904	179472904	C	A	TTN	c.52705+1G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179472904C>A	(Likely) pathogenic	1 lab	6a12fc70fa
12:56744197 STAT2 C>T	12	56744197	56744197	C	T	STAT2	c.1114G>A	NM_005419.4	NP_005410.1:p.(Gly372Ser)	NC_000012.11:g.56744197C>T	VUS	1 lab	6a1537e1dc
X:150156357 HMGB3 A>G	X	150156357	150156357	A	G	HMGB3	c.573A>G	NM_001301228.1	NP_001288157.1:p.(Glu191=)	NC_000023.10:g.150156357A>G	(Likely) benign	1 lab	6a182a39de
5:90002043 ADGRV1 A>G	5	90002043	90002043	A	G	ADGRV1	c.8567-5A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002043A>G	(Likely) pathogenic	1 lab	6a191ca794
12:112037273 ATXN2 C>G	12	112037273	112037273	C	G	ATXN2	c.46G>C	NM_002973.3	NP_002964.3:p.(Glu16Gln)	NC_000012.11:g.112037273C>G	(Likely) benign	1 lab	6a19994441
14:21859756 CHD8 G>A	14	21859756	21859756	G	A	CHD8	c.6931C>T	NM_001170629.1	NP_001164100.1:p.(Leu2311=)	NC_000014.8:g.21859756G>A	(Likely) benign	1 lab	6a1a862d2d
Y:21868329 KDM5D C>A	Y	21868329	21868329	C	A	KDM5D	c.4360G>T	NM_001146705.1	NP_001140177.1:p.(Glu1454Ter)	NC_000024.9:g.21868329C>A	VUS	1 lab	6a1b5e1775
9:100088836 CCDC180 G>A	9	100088836	100088836	G	A	CCDC180	c.1678G>A	NM_020893.3	NP_065944.2:p.(Val560Met)	NC_000009.11:g.100088836G>A	VUS	1 lab	6a1c815f30
6:31931833 SKIC2 G>A	6	31931833	31931833	G	A	SKIC2	c.1791G>A	NM_006929.4	NP_008860.4:p.(Lys597=)	NC_000006.11:g.31931833G>A	(Likely) benign	1 lab	6a1c82a40d
2:62067095 FAM161A A>G	2	62067095	62067095	A	G	FAM161A	c.1044T>C	NM_001201543.1	NP_001188472.1:p.(Tyr348=)	NC_000002.11:g.62067095A>G	(Likely) benign	1 lab	6a1cfd7f36
6:10802170 MAK G>A	6	10802170	10802170	G	A	MAK	c.786C>T	NM_001242957.2	NP_001229886.1:p.(Thr262=)	NC_000006.11:g.10802170G>A	(Likely) benign	1 lab	6a1dec8330
20:34092810 CEP250 G>A	20	34092810	34092810	G	A	CEP250	c.6613G>A	NM_007186.5	NP_009117.2:p.(Asp2205Asn)	NC_000020.10:g.34092810G>A	(Likely) benign	1 lab	6a208631ea
X:152845419 ATP2B3 T>C	X	152845419	152845419	T	C	ATP2B3	c.3497-17T>C	NM_021949.3	NP_068768.2:p.?	NC_000023.10:g.152845419T>C	(Likely) benign	1 lab	6a21c3bfbd
8:31004607 WRN C>T	8	31004607	31004607	C	T	WRN	c.3422C>T	NM_000553.4	NP_000544.2:p.(Ser1141Leu)	NC_000008.10:g.31004607C>T	(Likely) benign	1 lab	6a21fe6897
2:189914104 COL5A2 G>A	2	189914104	189914104	G	A	COL5A2	c.3116C>T	NM_000393.4	NP_000384.2:p.(Ser1039Phe)	NC_000002.11:g.189914104G>A	VUS	1 lab	6a22360126
X:38525462 TSPAN7 A>G	X	38525462	38525462	A	G	TSPAN7	c.169A>G	NM_004615.3	NP_004606.2:p.(Asn57Asp)	NC_000023.10:g.38525462A>G	(Likely) benign	1 lab	6a22459f62
12:56115626 RDH5 G>A	12	56115626	56115626	G	A	RDH5	c.464G>A	NM_001199771.1	NP_001186700.1:p.(Arg155Gln)	NC_000012.11:g.56115626G>A	VUS	1 lab	6a259466f3
12:66725011 HELB G>A	12	66725011	66725011	G	A	HELB	c.2748G>A	NM_033647.4	NP_387467.2:p.(Val916=)	NC_000012.11:g.66725011G>A	(Likely) benign	1 lab	6a25d6088c
16:2136794 TSC2 G>GA	16	2136794	2136796	G	GA	TSC2	c.4913dup	NM_000548.3	NP_000539.2:p.(Arg1639AlafsTer14)	NC_000016.9:g.2136796dup	(Likely) pathogenic	1 lab	6a25f59448
7:117230433 CFTR A>G	7	117230433	117230433	A	G	CFTR	c.1706A>G	NM_000492.3	NP_000483.3:p.(Tyr569Cys)	NC_000007.13:g.117230433A>G	(Likely) pathogenic	1 lab	6a263b76c4
8:21983147 HR G>A	8	21983147	21983147	G	A	HR	c.1504C>T	NM_005144.4	NP_005135.2:p.(Gln502Ter)	NC_000008.10:g.21983147G>A	(Likely) pathogenic	1 lab	6a2648eb1c
12:21011813 SLCO1B3 C>T	12	21011813	21011813	C	T	SLCO1B3	c.359+308C>T	NM_019844.4	NP_062818.1:p.?	NC_000012.11:g.21011813C>T	(Likely) benign	1 lab	f5642d1f76
19:12918283 RNASEH2A T>C	19	12918283	12918283	T	C	RNASEH2A	c.374T>C	NM_006397.2	NP_006388.2:p.(Ile125Thr)	NC_000019.9:g.12918283T>C	VUS	1 lab	6a27092826
12:1993988 CACNA2D4 G>A	12	1993988	1993988	G	A	CACNA2D4	c.1218C>T	NM_172364.4	NP_758952.4:p.(Gly406=)	NC_000012.11:g.1993988G>A	(Likely) benign	1 lab	6a2a7b609b
17:29587535 NF1 T>G	17	29587535	29587535	T	G	NF1	c.4514+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587535T>G	(Likely) pathogenic	1 lab	6a2b1c491f
5:71494474 MAP1B A>T	5	71494474	71494474	A	T	MAP1B	c.5292A>T	NM_005909.5	NP_005900.2:p.(Ser1764=)	NC_000005.9:g.71494474A>T	(Likely) benign	1 lab	6a2c3db4bc
16:74750486 FA2H G>A	16	74750486	74750486	G	A	FA2H	c.798C>T	NM_024306.4	NP_077282.3:p.(Asp266=)	NC_000016.9:g.74750486G>A	(Likely) benign	1 lab	6a2daca7da
5:89949336 ADGRV1 A>ACG	5	89949336	89949338	A	ACG	ADGRV1	c.3946_3947insGC	NM_032119.4	NP_115495.3:p.(Gln1316ArgfsTer19)	NC_000005.9:g.89949337_89949338insGC	(Likely) pathogenic	1 lab	6a30172f59
15:43010294 STARD9 G>A	15	43010294	43010294	G	A	STARD9	c.13679G>A	NM_020759.3	NP_065810.2:p.(Ser4560Asn)	NC_000015.9:g.43010294G>A	VUS	1 lab	f56a5293e5
16:1435305 UNKL C>CGCTGGACGCCAG	16	1435305	1435328	C	CGCTGGACGCCAG	UNKL	c.1156_1167dup	NM_001193388.3	NP_001180317.2:p.(Leu386_Ser389dup)	NC_000016.9:g.1435317_1435328dup	(Likely) benign	1 lab	6a30c413ab
3:43122686 POMGNT2 G>A	3	43122686	43122686	G	A	POMGNT2	c.238C>T	NM_032806.5	NP_116195.2:p.(Arg80Cys)	NC_000003.11:g.43122686G>A	VUS	1 lab	6a34c4551a
X:128692611 OCRL G>A	X	128692611	128692611	G	A	OCRL	c.444G>A	NM_001318784.1	NP_001305713.1:p.(Gly148=)	NC_000023.10:g.128692611G>A	(Likely) benign	1 lab	6a34ebbab0
11:70052365 FADD CAG>C	11	70052365	70052369	CAG	C	FADD	c.416_417del	NM_003824.4	NP_003815.1:p.(Glu139AlafsTer36)	NC_000011.9:g.70052368_70052369del	(Likely) pathogenic	1 lab	6a35af6479
X:68381614 PJA1 T>C	X	68381614	68381614	T	C	PJA1	c.1468A>G	NM_145119.3	NP_660095.1:p.(Met490Val)	NC_000023.10:g.68381614T>C	(Likely) benign	1 lab	6a35ffcddf
11:82549559 PRCP G>T	11	82549559	82549559	G	T	PRCP	c.1207C>A	NM_199418.3	NP_955450.2:p.(Pro403Thr)	NC_000011.9:g.82549559G>T	(Likely) benign	1 lab	6a3615e22f
5:114515676 TRIM36 C>T	5	114515676	114515676	C	T	TRIM36	c.59G>A	NM_018700.3	NP_061170.2:p.(Gly20Asp)	NC_000005.9:g.114515676C>T	(Likely) benign	1 lab	6a37bfea06
8:41905976 KAT6A T>C	8	41905976	41905976	T	C	KAT6A	c.520A>G	NM_006766.4	NP_006757.2:p.(Thr174Ala)	NC_000008.10:g.41905976T>C	(Likely) benign	1 lab	6a39e25a44
1:181759660 MISSING G>A	1	181759660	181759660	G	A	MISSING				NC_000001.10:g.181759660G>A	(Likely) benign	1 lab	6a3c0d650f
20:57415536 GNAS C>G	20	57415536	57415536	C	G	GNAS	c.375C>G	NM_016592.3	NP_057676.1:p.(Phe125Leu)	NC_000020.10:g.57415536C>G	(Likely) benign	1 lab	6a3e737c14
6:13286438 PHACTR1 A>G	6	13286438	13286438	A	G	PHACTR1	c.1711A>G	NM_030948.3	NP_112210.1:p.(Ser571Gly)	NC_000006.11:g.13286438A>G	VUS	1 lab	6a3edf6dc7
4:36318083 DTHD1 G>T	4	36318083	36318083	G	T	DTHD1	c.1940G>T	NM_001170700.2	NP_001164171.1:p.(Cys647Phe)	NC_000004.11:g.36318083G>T	VUS	1 lab	6a40049ea1
9:140705999 EHMT1 C>T	9	140705999	140705999	C	T	EHMT1	c.2799C>T	NM_024757.4	NP_079033.4:p.(His933=)	NC_000009.11:g.140705999C>T	(Likely) benign	1 lab	6a401e8d70
1:103462645 COL11A1 C>G	1	103462645	103462645	C	G	COL11A1	c.2268G>C	NM_080629.2	NP_542196.2:p.(Lys756Asn)	NC_000001.10:g.103462645C>G	VUS	1 lab	6a4302e922
11:118962141 HMBS C>T	11	118962141	118962141	C	T	HMBS	c.517C>T	NM_000190.4	NP_000181.2:p.(Arg173Trp)	NC_000011.9:g.118962141C>T	(Likely) pathogenic	1 lab	6a4532dcf0
11:70332091 SHANK2 T>C	11	70332091	70332091	T	C	SHANK2	c.2543A>G	NM_133266.3	NP_573573.2:p.(Asp848Gly)	NC_000011.9:g.70332091T>C	VUS	1 lab	6a45aa4eee
8:33451216 DUSP26 C>T	8	33451216	33451216	C	T	DUSP26	c.271G>A	NM_001305115.1	NP_001292044.1:p.(Val91Ile)	NC_000008.10:g.33451216C>T	VUS	1 lab	6a46c49b9a
X:12736648 FRMPD4 G>A	X	12736648	12736648	G	A	FRMPD4	c.3703G>A	NM_014728.3	NP_055543.2:p.(Val1235Met)	NC_000023.10:g.12736648G>A	(Likely) benign	1 lab	6a46df92c9
22:38120154 TRIOBP G>A	22	38120154	38120154	G	A	TRIOBP	c.1591G>A	NM_001039141.2	NP_001034230.1:p.(Ala531Thr)	NC_000022.10:g.38120154G>A	(Likely) benign	1 lab	6a474f5c7e
X:26212632 MAGEB6 G>C	X	26212632	26212632	G	C	MAGEB6	c.669G>C	NM_173523.2	NP_775794.2:p.(Lys223Asn)	NC_000023.10:g.26212632G>C	VUS	1 lab	6a48d34b01
1:93306206 RPL5 C>CT	1	93306206	93306215	C	CT	RPL5	c.794+19dup	NM_000969.5	NP_000960.2:p.?	NC_000001.10:g.93306215dup	(Likely) benign	1 lab	6a4a7e2121
1:237829818 RYR2 G>A	1	237829818	237829818	G	A	RYR2	c.8443G>A	NM_001035.2	NP_001026.2:p.(Val2815Met)	NC_000001.10:g.237829818G>A	VUS	1 lab	6a4db9ccdc
X:53622235 HUWE1 C>T	X	53622235	53622235	C	T	HUWE1	c.3292G>A	NM_031407.7	NP_113584.3:p.(Ala1098Thr)	NC_000023.10:g.53622235C>T	VUS	1 lab	f56da0d6fc
X:18926090 PHKA2 G>A	X	18926090	18926090	G	A	PHKA2	c.2445C>T	NM_000292.2	NP_000283.1:p.(Gly815=)	NC_000023.10:g.18926090G>A	(Likely) benign	1 lab	6a4ff9db50
21:46310145 ITGB2 C>T	21	46310145	46310145	C	T	ITGB2	c.1413-8G>A	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46310145C>T	(Likely) benign	1 lab	6a508dcc1d
2:179434034 TTN TCAGGTTAA>T	2	179434034	179434047	TCAGGTTAA	T	TTN	c.76817_76824del	NM_001267550.2	NP_001254479.2:p.(Val25606GlufsTer31)	NC_000002.11:g.179434040_179434047del	(Likely) pathogenic	1 lab	f56ee55e3b
11:134014246 JAM3 C>T	11	134014246	134014246	C	T	JAM3	c.367C>T	NM_032801.4	NP_116190.3:p.(Arg123Cys)	NC_000011.9:g.134014246C>T	VUS	1 lab	6a522598b5
11:608333 PHRF1 G>A	11	608333	608333	G	A	PHRF1	c.2874G>A	NM_020901.3	NP_065952.2:p.(Thr958=)	NC_000011.9:g.608333G>A	(Likely) benign	1 lab	6a530c9fad
22:30035078 NF2 G>A	22	30035078	30035078	G	A	NF2	c.241-1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30035078G>A	(Likely) pathogenic	1 lab	6a531c2594
8:96281255 CFAP418 C>T	8	96281255	96281255	C	T	CFAP418	c.155+8G>A	NM_177965.3	NP_808880.1:p.?	NC_000008.10:g.96281255C>T	(Likely) benign	1 lab	6a54384cff
3:69028848 EOGT G>A	3	69028848	69028848	G	A	EOGT	c.1305C>T	NM_001278689.1	NP_001265618.1:p.(Phe435=)	NC_000003.11:g.69028848G>A	(Likely) benign	1 lab	6a5538c499
8:37607366 ERLIN2 T>C	8	37607366	37607366	T	C	ERLIN2	c.553T>C	NM_007175.6	NP_009106.1:p.(Leu185=)	NC_000008.10:g.37607366T>C	(Likely) benign	1 lab	6a554863b8
17:8011813 ALOXE3 G>A	17	8011813	8011813	G	A	ALOXE3	c.2053C>T	NM_001165960.1	NP_001159432.1:p.(Gln685Ter)	NC_000017.10:g.8011813G>A	(Likely) pathogenic	1 lab	6a56b851d4
10:69948835 MYPN C>T	10	69948835	69948835	C	T	MYPN	c.2877C>T	NM_032578.3	NP_115967.2:p.(Gly959=)	NC_000010.10:g.69948835C>T	(Likely) benign	1 lab	6a583bff92
16:1616201 IFT140 C>T	16	1616201	1616201	C	T	IFT140	c.1862G>A	NM_014714.3	NP_055529.2:p.(Arg621Gln)	NC_000016.9:g.1616201C>T	(Likely) benign	1 lab	6a583c657e
1:11836553 C1orf167 G>T	1	11836553	11836553	G	T	C1orf167	c.2197G>T	NM_001010881.1	NP_001010881.1:p.(Ala733Ser)	NC_000001.10:g.11836553G>T	(Likely) benign	1 lab	6a584e9390
11:125449990 EI24 G>A	11	125449990	125449990	G	A	EI24	c.563G>A	NM_004879.4	NP_004870.3:p.(Gly188Glu)	NC_000011.9:g.125449990G>A	VUS	1 lab	6a590771e5
2:110920699 NPHP1 A>G	2	110920699	110920699	A	G	NPHP1	c.953T>C	NM_000272.3	NP_000263.2:p.(Val318Ala)	NC_000002.11:g.110920699A>G	(Likely) benign	1 lab	6a598236be
14:91763715 CCDC88C G>A	14	91763715	91763715	G	A	CCDC88C	c.3900C>T	NM_001080414.3	NP_001073883.2:p.(Phe1300=)	NC_000014.8:g.91763715G>A	(Likely) benign	1 lab	6a59ff93d7
12:11214568 TAS2R46 T>C	12	11214568	11214568	T	C	TAS2R46	c.326A>G	NM_176887.2	NP_795368.2:p.(Lys109Arg)	NC_000012.11:g.11214568T>C	VUS	1 lab	6a5a99d805
7:151945204 KMT2C G>A	7	151945204	151945204	G	A	KMT2C	c.2315C>T	NM_170606.2	NP_733751.2:p.(Ser772Leu)	NC_000007.13:g.151945204G>A	(Likely) benign	1 lab	6a5c4bc63a
11:67926515 KMT5B T>C	11	67926515	67926515	T	C	KMT5B	c.782A>G	NM_001300907.1	NP_001287836.1:p.(Asn261Ser)	NC_000011.9:g.67926515T>C	VUS	1 lab	6a5c748d25
X:105277532 SERPINA7 T>C	X	105277532	105277532	T	C	SERPINA7	c.1207A>G	NM_000354.5	NP_000345.2:p.(Ile403Val)	NC_000023.10:g.105277532T>C	(Likely) benign	1 lab	6a5ef80b8a
19:50216032 CPT1C C>G	19	50216032	50216032	C	G	CPT1C	c.2059C>G	NM_001199752.2	NP_001186681.1:p.(Pro687Ala)	NC_000019.9:g.50216032C>G	VUS	1 lab	6a5f27eafc
18:67863844 RTTN T>C	18	67863844	67863844	T	C	RTTN	c.734A>G	NM_173630.3	NP_775901.3:p.(Lys245Arg)	NC_000018.9:g.67863844T>C	(Likely) benign	1 lab	6a602fd368
12:99640206 ANKS1B C>A	12	99640206	99640206	C	A	ANKS1B	c.2193G>T	NM_152788.4	NP_690001.3:p.(Leu731Phe)	NC_000012.11:g.99640206C>A	VUS	1 lab	f571ba644c
11:111899375 DLAT G>A	11	111899375	111899375	G	A	DLAT	c.506+12G>A	NM_001931.5	NP_001922.2:p.?	NC_000011.9:g.111899375G>A	(Likely) benign	1 lab	f574675e85
16:28354015 NPIPB6 T>C	16	28354015	28354015	T	C	NPIPB6	c.1191A>G	NM_001282524.1	NP_001269453.1:p.(Gln397=)	NC_000016.9:g.28354015T>C	(Likely) benign	1 lab	6a61b2fde7
17:78073394 CCDC40 C>T	17	78073394	78073394	C	T	CCDC40	c.3249C>T	NM_017950.3	NP_060420.2:p.(Tyr1083=)	NC_000017.10:g.78073394C>T	(Likely) benign	1 lab	6a65125e76
15:62261520 VPS13C G>C	15	62261520	62261520	G	C	VPS13C	c.2889C>G	NM_001018088.2	NP_001018098.1:p.(Ser963Arg)	NC_000015.9:g.62261520G>C	VUS	1 lab	6a666cbfdb
17:29554285 NF1 G>GCA	17	29554285	29554287	G	GCA	NF1	c.2302_2303dup	NM_000267.3	NP_000258.1:p.(Pro769IlefsTer23)	NC_000017.10:g.29554286_29554287dup	(Likely) pathogenic	1 lab	6a66cfe7f9
X:77267152 ATP7A T>G	X	77267152	77267152	T	G	ATP7A	c.2153T>G	NM_000052.6	NP_000043.4:p.(Leu718Ter)	NC_000023.10:g.77267152T>G	(Likely) pathogenic	1 lab	6a6780659b
12:125020106 NCOR2 C>T	12	125020106	125020106	C	T	NCOR2	c.-118+5G>A	NM_006312.5	NP_006303.4:p.?	NC_000012.11:g.125020106C>T	(Likely) benign	1 lab	6a6931f092
1:152285186 FLG C>G	1	152285186	152285186	C	G	FLG	c.2176G>C	NM_002016.1	NP_002007.1:p.(Gly726Arg)	NC_000001.10:g.152285186C>G	VUS	1 lab	6a6a5c88c4
2:220422195 OBSL1 CTGGCT>C	2	220422195	220422202	CTGGCT	C	OBSL1	c.3931_3935del	NM_015311.3	NP_056126.1:p.(Ser1311GlyfsTer64)	NC_000002.11:g.220422198_220422202del	(Likely) pathogenic	1 lab	6a6ab9723f
X:153633782 DNASE1L1 A>G	X	153633782	153633782	A	G	DNASE1L1	c.128T>C	NM_006730.3	NP_006721.1:p.(Leu43Ser)	NC_000023.10:g.153633782A>G	VUS	1 lab	6a6aeb3710
11:821766 PNPLA2 A>G	11	821766	821766	A	G	PNPLA2	c.326A>G	NM_020376.3	NP_065109.1:p.(His109Arg)	NC_000011.9:g.821766A>G	(Likely) benign	1 lab	6a6b60fa8e
20:2413247 TGM6 C>T	20	2413247	2413247	C	T	TGM6	c.2079C>T	NM_198994.2	NP_945345.2:p.(Asp693=)	NC_000020.10:g.2413247C>T	(Likely) benign	1 lab	6a6bc93451
2:209200529 PIKFYVE A>T	2	209200529	209200529	A	T	PIKFYVE	c.4269A>T	NM_015040.3	NP_055855.2:p.(Val1423=)	NC_000002.11:g.209200529A>T	(Likely) benign	1 lab	6a6c2b4280
X:30725676 GK T>C	X	30725676	30725676	T	C	GK	c.855T>C	NM_001205019.1	NP_001191948.1:p.(Tyr285=)	NC_000023.10:g.30725676T>C	(Likely) benign	1 lab	6a6d094804
13:31789179 B3GLCT T>C	13	31789179	31789179	T	C	B3GLCT	c.71-9T>C	NM_194318.3	NP_919299.3:p.?	NC_000013.10:g.31789179T>C	(Likely) benign	1 lab	6a6d72085d
1:100340225 AGL G>A	1	100340225	100340225	G	A	AGL	c.959-18G>A	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100340225G>A	(Likely) benign	1 lab	f575bb4f17
9:135139681 SETX T>C	9	135139681	135139681	T	C	SETX	c.7979A>G	NM_015046.5	NP_055861.3:p.(Asp2660Gly)	NC_000009.11:g.135139681T>C	(Likely) benign	1 lab	6a6f8f4bcb
12:49426726 KMT2D T>A	12	49426726	49426726	T	A	KMT2D	c.11762A>T	NM_003482.3	NP_003473.3:p.(Gln3921Leu)	NC_000012.11:g.49426726T>A	VUS	1 lab	6a70534bbb
6:111887699 TRAF3IP2 G>A	6	111887699	111887699	G	A	TRAF3IP2	c.1424C>T	NM_147686.4	NP_679211.2:p.(Ser475Leu)	NC_000006.11:g.111887699G>A	VUS	1 lab	6a7088e96e
2:189873686 COL3A1 G>A	2	189873686	189873686	G	A	COL3A1	c.3562G>A	NM_000090.3	NP_000081.1:p.(Gly1188Arg)	NC_000002.11:g.189873686G>A	(Likely) pathogenic	1 lab	6a70f71627
10:111967693 MXI1 G>A	10	111967693	111967693	G	A	MXI1	c.127G>A	NM_130439.3	NP_569157.2:p.(Ala43Thr)	NC_000010.10:g.111967693G>A	(Likely) benign	1 lab	6a717ffeab
X:70342421 MED12 C>T	X	70342421	70342421	C	T	MED12	c.1312C>T	NM_005120.2	NP_005111.2:p.(Arg438Cys)	NC_000023.10:g.70342421C>T	VUS	1 lab	6a746f3363
11:70666745 SHANK2 C>G	11	70666745	70666745	C	G	SHANK2	c.1217G>C	NM_012309.4	NP_036441.2:p.(Arg406Pro)	NC_000011.9:g.70666745C>G	(Likely) benign	1 lab	6a753b8eb8
3:197431509 RUBCN C>T	3	197431509	197431509	C	T	RUBCN	c.187G>A	NM_001145642.4	NP_001139114.1:p.(Glu63Lys)	NC_000003.11:g.197431509C>T	VUS	1 lab	6a758c259b
14:55332074 GCH1 C>A	14	55332074	55332074	C	A	GCH1	c.424G>T	NM_000161.3	NP_000152.1:p.(Glu142Ter)	NC_000014.8:g.55332074C>A	(Likely) pathogenic	1 lab	f576a70980
3:100002639 TBC1D23 A>C	3	100002639	100002639	A	C	TBC1D23	c.460A>C	NM_018309.4	NP_060779.2:p.(Asn154His)	NC_000003.11:g.100002639A>C	VUS	1 lab	6a767dff25
19:9046659 MUC16 T>C	19	9046659	9046659	T	C	MUC16	c.34972A>G	NM_024690.2	NP_078966.2:p.(Thr11658Ala)	NC_000019.9:g.9046659T>C	(Likely) benign	1 lab	6a776ed7b0
2:219290482 VIL1 G>A	2	219290482	219290482	G	A	VIL1	c.295G>A	NM_007127.2	NP_009058.2:p.(Val99Ile)	NC_000002.11:g.219290482G>A	(Likely) benign	1 lab	6a7798fe4a
2:179579722 TTN C>G	2	179579722	179579722	C	G	TTN	c.26191G>C	NM_001267550.1	NP_001254479.1:p.(Ala8731Pro)	NC_000002.11:g.179579722C>G	VUS	1 lab	6a77d76f2e
X:153041089 PLXNB3 T>C	X	153041089	153041089	T	C	PLXNB3	c.4444T>C	NM_001163257.1	NP_001156729.1:p.(Ser1482Pro)	NC_000023.10:g.153041089T>C	VUS	1 lab	6a78ddc0d4
4:3188417 HTT C>T	4	3188417	3188417	C	T	HTT	c.4966C>T	NM_002111.8	NP_002102.4:p.(Arg1656Trp)	NC_000004.11:g.3188417C>T	VUS	1 lab	6a7a44285c
9:35703768 TLN1 C>T	9	35703768	35703768	C	T	TLN1	c.6357+4G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35703768C>T	(Likely) benign	1 lab	6a7a80433f
4:47972990 CNGA1 T>C	4	47972990	47972990	T	C	CNGA1	c.128A>G	NM_001142564.1	NP_001136036.1:p.(His43Arg)	NC_000004.11:g.47972990T>C	(Likely) benign	1 lab	6a7a9de74b
6:112443207 LAMA4 GTTACT>G	6	112443207	112443218	GTTACT	G	LAMA4	c.4475+5_4475+9del	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112443214_112443218del	VUS	1 lab	6a7d1a1bd3
20:25284255 ABHD12 G>A	20	25284255	25284255	G	A	ABHD12	c.960C>T	NM_001042472.3	NP_001035937.1:p.(His320=)	NC_000020.10:g.25284255G>A	(Likely) benign	1 lab	6a7d24fcf5
1:62970348 DOCK7 T>C	1	62970348	62970348	T	C	DOCK7	c.4717A>G	NM_001367561.1	NP_001354490.1:p.(Ser1573Gly)	NC_000001.10:g.62970348T>C	VUS	1 lab	6a7d850313
2:26696921 OTOF G>A	2	26696921	26696921	G	A	OTOF	c.3346C>T	NM_194248.2	NP_919224.1:p.(Arg1116Ter)	NC_000002.11:g.26696921G>A	(Likely) pathogenic	1 lab	6a7e0c7110
17:29667496 NF1 T>C	17	29667496	29667496	T	C	NF1	c.6859-27T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29667496T>C	(Likely) benign	1 lab	6a7e60c862
X:49113891 FOXP3 G>A	X	49113891	49113891	G	A	FOXP3	c.447C>T	NM_014009.3	NP_054728.2:p.(Leu149=)	NC_000023.10:g.49113891G>A	(Likely) benign	1 lab	6a7ebbe541
9:69385945 ANKRD20A4P C>T	9	69385945	69385945	C	T	ANKRD20A4P	c.382C>T	NM_001098805.1	NP_001092275.1:p.(Leu128Phe)	NC_000009.11:g.69385945C>T	(Likely) benign	1 lab	6a7ed48b7d
1:36563232 COL8A2 C>T	1	36563232	36563232	C	T	COL8A2	c.2050G>A	NM_005202.3	NP_005193.1:p.(Gly684Ser)	NC_000001.10:g.36563232C>T	VUS	1 lab	6a7f1d3e45
19:6714253 C3 G>A	19	6714253	6714253	G	A	C3	c.606C>T	NM_000064.2	NP_000055.2:p.(Gly202=)	NC_000019.9:g.6714253G>A	(Likely) benign	1 lab	6a7f654bc7
1:1290708 MXRA8 C>T	1	1290708	1290708	C	T	MXRA8	c.367G>A	NM_001282583.1	NP_001269512.1:p.(Ala123Thr)	NC_000001.10:g.1290708C>T	(Likely) benign	1 lab	6a8451e98d
14:77492586 IRF2BPL G>A	14	77492586	77492586	G	A	IRF2BPL	c.1550C>T	NM_024496.4	NP_078772.1:p.(Ala517Val)	NC_000014.8:g.77492586G>A	(Likely) benign	1 lab	6a8488be5f
2:179527448 TTN A>G	2	179527448	179527448	A	G	TTN	c.36874+8T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179527448A>G	(Likely) benign	1 lab	6a86504eff
X:14883569 FANCB C>T	X	14883569	14883569	C	T	FANCB	c.64G>A	NM_001018113.1	NP_001018123.1:p.(Val22Ile)	NC_000023.10:g.14883569C>T	(Likely) benign	1 lab	6a8898f897
20:31380437 DNMT3B T>C	20	31380437	31380437	T	C	DNMT3B	c.927T>C	NM_006892.3	NP_008823.1:p.(Ala309=)	NC_000020.10:g.31380437T>C	(Likely) benign	1 lab	6a89fa5454
22:18609699 TUBA8 C>G	22	18609699	18609699	C	G	TUBA8	c.954C>G	NM_018943.2	NP_061816.1:p.(Leu318=)	NC_000022.10:g.18609699C>G	(Likely) benign	1 lab	6a8a76bcbd
16:57693498 ADGRG1 T>C	16	57693498	57693498	T	C	ADGRG1	c.1478T>C	NM_005682.6	NP_005673.3:p.(Met493Thr)	NC_000016.9:g.57693498T>C	(Likely) benign	1 lab	6a8aa2cd8c
2:38208442 RMDN2 AAG>A	2	38208442	38208446	AAG	A	RMDN2	c.750_751del	NM_001170791.3	NP_001164262.1:p.(Arg250SerfsTer3)	NC_000002.11:g.38208445_38208446del	VUS	1 lab	6a8b0bb9df
16:30998266 HSD3B7 G>A	16	30998266	30998266	G	A	HSD3B7	c.637G>A	NM_025193.3	NP_079469.2:p.(Gly213Arg)	NC_000016.9:g.30998266G>A	VUS	1 lab	6a8c449f70
4:113348736 ALPK1 C>T	4	113348736	113348736	C	T	ALPK1	c.710C>T	NM_025144.4	NP_079420.3:p.(Thr237Met)	NC_000004.11:g.113348736C>T	(Likely) pathogenic	1 lab	6a8d2f8bf6
16:89346190 ANKRD11 C>T	16	89346190	89346190	C	T	ANKRD11	c.6760G>A	NM_001256182.1	NP_001243111.1:p.(Gly2254Arg)	NC_000016.9:g.89346190C>T	(Likely) benign	1 lab	6a8d92f93a
8:105105755 RIMS2 G>C	8	105105755	105105755	G	C	RIMS2	c.3750G>C	NM_001348484.1	NP_001335413.1:p.(Ser1250=)	NC_000008.10:g.105105755G>C	(Likely) benign	1 lab	6a8ee31432
3:48605036 COL7A1 G>A	3	48605036	48605036	G	A	COL7A1	c.8017C>T	NM_000094.4	NP_000085.1:p.(Pro2673Ser)	NC_000003.11:g.48605036G>A	VUS	1 lab	f577eb8d03
X:131573551 MBNL3 C>T	X	131573551	131573551	C	T	MBNL3	c.89G>A	NM_018388.3	NP_060858.2:p.(Arg30Gln)	NC_000023.10:g.131573551C>T	VUS	1 lab	6a988893bb
17:59878605 BRIP1 T>C	17	59878605	59878605	T	C	BRIP1	c.1140+9A>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59878605T>C	(Likely) benign	1 lab	f5793081c4
17:79609400 TSPAN10 C>A	17	79609400	79609400	C	A	TSPAN10	c.76C>A	NM_001290212.1	NP_001277141.1:p.(Arg26=)	NC_000017.10:g.79609400C>A	(Likely) benign	1 lab	6a99b91d90
4:16177753 TAPT1 T>C	4	16177753	16177753	T	C	TAPT1	c.1096A>G	NM_153365.2	NP_699196.2:p.(Ile366Val)	NC_000004.11:g.16177753T>C	(Likely) benign	1 lab	6a9c16b81d
X:49851443 CLCN5 C>T	X	49851443	49851443	C	T	CLCN5	c.1473C>T	NM_001127899.3	NP_001121371.1:p.(Gly491=)	NC_000023.10:g.49851443C>T	(Likely) benign	1 lab	6a9d0866c7
16:2114406 TSC2 G>C	16	2114406	2114406	G	C	TSC2	c.1577G>C	NM_001114382.2	NP_001107854.1:p.(Ser526Thr)	NC_000016.9:g.2114406G>C	(Likely) benign	1 lab	6a9d90938e
21:44590650 CRYAA C>T	21	44590650	44590650	C	T	CRYAA	c.213C>T	NM_000394.3	NP_000385.1:p.(Phe71=)	NC_000021.8:g.44590650C>T	(Likely) benign	1 lab	6a9f67e9dd
20:62305431 RTEL1 G>T	20	62305431	62305431	G	T	RTEL1	c.976G>T	NM_032957.5	NP_116575.3:p.(Asp326Tyr)	NC_000020.10:g.62305431G>T	VUS	1 lab	f57983035b
19:41111360 LTBP4 G>C	19	41111360	41111360	G	C	LTBP4	c.693G>C	NM_001042544.1	NP_001036009.1:p.(Ser231=)	NC_000019.9:g.41111360G>C	(Likely) benign	1 lab	6aa282153c
14:62463052 SYT16 A>T	14	62463052	62463052	A	T	SYT16	c.315A>T	NM_001367661.1	NP_001354590.1:p.(Ser105=)	NC_000014.8:g.62463052A>T	(Likely) benign	1 lab	6aa3544f36
2:211457616 CPS1 A>C	2	211457616	211457616	A	C	CPS1	c.1100A>C	NM_001875.4	NP_001866.2:p.(Glu367Ala)	NC_000002.11:g.211457616A>C	(Likely) benign	1 lab	6aa3f21afd
16:21728261 OTOA G>A	16	21728261	21728261	G	A	OTOA	c.1522G>A	NM_144672.4	NP_653273.3:p.(Val508Met)	NC_000016.9:g.21728261G>A	(Likely) benign	1 lab	6aa47c6218
17:73826490 UNC13D C>T	17	73826490	73826490	C	T	UNC13D	c.2783G>A	NM_199242.2	NP_954712.1:p.(Arg928His)	NC_000017.10:g.73826490C>T	(Likely) benign	1 lab	6aa4872ada
8:145623063 CPSF1 C>T	8	145623063	145623063	C	T	CPSF1	c.2105G>A	NM_013291.3	NP_037423.2:p.(Arg702Gln)	NC_000008.10:g.145623063C>T	VUS	1 lab	6aa521624a
17:27890041 ABHD15 T>C	17	27890041	27890041	T	C	ABHD15	c.945A>G	NM_198147.3	NP_937790.2:p.(Arg315=)	NC_000017.10:g.27890041T>C	(Likely) benign	1 lab	6aa62622a7
5:89915006 ADGRV1 C>T	5	89915006	89915006	C	T	ADGRV1	c.453+8C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89915006C>T	(Likely) benign	1 lab	6aa6575522
1:240256171 FMN2 G>A	1	240256171	240256171	G	A	FMN2	c.762G>A	NM_020066.5	NP_064450.3:p.(Leu254=)	NC_000001.10:g.240256171G>A	(Likely) benign	1 lab	6aa665938b
17:78157842 CARD14 G>A	17	78157842	78157842	G	A	CARD14	c.480G>A	NM_024110.4	NP_077015.2:p.(Leu160=)	NC_000017.10:g.78157842G>A	(Likely) benign	1 lab	6aa7e1fdaa
6:31084792 CDSN C>T	6	31084792	31084792	C	T	CDSN	c.600G>A	NM_001264.5	NP_001255.4:p.(Gln200=)	NC_000006.11:g.31084792C>T	(Likely) benign	1 lab	f57a23c42e
17:73824081 UNC13D G>A	17	73824081	73824081	G	A	UNC13D	c.3238C>T	NM_199242.2	NP_954712.1:p.(Gln1080Ter)	NC_000017.10:g.73824081G>A	VUS	1 lab	6aa8ab2e68
18:47352939 MYO5B T>C	18	47352939	47352939	T	C	MYO5B	c.5449A>G	NM_001080467.2	NP_001073936.1:p.(Met1817Val)	NC_000018.9:g.47352939T>C	(Likely) benign	1 lab	6aa90365ac
1:6038471 NPHP4 G>A	1	6038471	6038471	G	A	NPHP4	c.138C>T	NM_015102.4	NP_055917.1:p.(Gly46=)	NC_000001.10:g.6038471G>A	(Likely) benign	1 lab	6aab843be2
17:4836114 GP1BA G>A	17	4836114	4836114	G	A	GP1BA	c.215G>A	NM_000173.5	NP_000164.5:p.(Arg72His)	NC_000017.10:g.4836114G>A	(Likely) benign	1 lab	6aac53f06c
8:2092646 MYOM2 A>G	8	2092646	2092646	A	G	MYOM2	c.4139A>G	NM_003970.4	NP_003961.3:p.(Lys1380Arg)	NC_000008.10:g.2092646A>G	VUS	1 lab	f58391195c
11:124749734 ROBO3 T>G	11	124749734	124749734	T	G	ROBO3	c.3848T>G	NM_022370.3	NP_071765.2:p.(Leu1283Arg)	NC_000011.9:g.124749734T>G	VUS	1 lab	6aac77d126
11:6653715 DCHS1 G>A	11	6653715	6653715	G	A	DCHS1				NC_000011.9:g.6653715G>A	(Likely) benign	1 lab	6aaf35c4b2
1:74575212 LRRIQ3 G>GT	1	74575212	74575221	G	GT	LRRIQ3	c.732dup	NM_001105659.2	NP_001099129.1:p.(Gln245ThrfsTer7)	NC_000001.10:g.74575221dup	(Likely) benign	1 lab	6ab07a4731
11:1273595 MUC5B C>T	11	1273595	1273595	C	T	MUC5B	c.14886C>T	NM_002458.2	NP_002449.2:p.(Thr4962=)	NC_000011.9:g.1273595C>T	(Likely) benign	1 lab	6ab0a3e396
17:36499527 GPR179 A>G	17	36499527	36499527	A	G	GPR179	c.146T>C	NM_001004334.3	NP_001004334.3:p.(Met49Thr)	NC_000017.10:g.36499527A>G	(Likely) benign	1 lab	6ab25c31ce
16:89349630 ANKRD11 TTCTTG>T	16	89349630	89349637	TTCTTG	T	ANKRD11	c.3315_3319del	NM_013275.6	NP_037407.4:p.(Asp1105GlufsTer16)	NC_000016.9:g.89349633_89349637del	(Likely) pathogenic	1 lab	6ab3c17110
19:6837012 VAV1 C>T	19	6837012	6837012	C	T	VAV1	c.1931C>T	NM_005428.4	NP_005419.2:p.(Thr644Ile)	NC_000019.9:g.6837012C>T	VUS	1 lab	f5870614ea
8:61773547 CHD7 C>G	8	61773547	61773547	C	G	CHD7	c.7693C>G	NM_017780.4	NP_060250.2:p.(Pro2565Ala)	NC_000008.10:g.61773547C>G	VUS	1 lab	f58ae4eec5
5:13700965 DNAH5 T>G	5	13700965	13700965	T	G	DNAH5	c.13507A>C	NM_001369.2	NP_001360.1:p.(Asn4503His)	NC_000005.9:g.13700965T>G	VUS	1 lab	6ab8ae66d8
14:74008343 ACOT1 AC>A	14	74008343	74008344	AC	A	ACOT1	c.605del	NM_001037161.2	NP_001032238.1:p.(Thr202SerfsTer11)	NC_000014.8:g.74008344del	VUS	1 lab	6ab961f3b1
4:134072519 PCDH10 C>T	4	134072519	134072519	C	T	PCDH10	c.1224C>T	NM_032961.3	NP_116586.1:p.(Ser408=)	NC_000004.11:g.134072519C>T	(Likely) benign	1 lab	6ab9886c9a
3:24003853 NR1D2 C>A	3	24003853	24003853	C	A	NR1D2	c.903C>A	NM_005126.5	NP_005117.3:p.(Cys301Ter)	NC_000003.11:g.24003853C>A	VUS	1 lab	f7ee0478fc
16:3828073 CREBBP G>A	16	3828073	3828073	G	A	CREBBP	c.2052C>T	NM_004380.2	NP_004371.2:p.(Ala684=)	NC_000016.9:g.3828073G>A	(Likely) benign	1 lab	6abbb35a8f
6:56417015 DST C>T	6	56417015	56417015	C	T	DST	c.10218G>A	NM_001144769.2	NP_001138241.1:p.(Thr3406=)	NC_000006.11:g.56417015C>T	(Likely) benign	1 lab	6abc84bb3d
2:31595176 XDH C>T	2	31595176	31595176	C	T	XDH	c.1774G>A	NM_000379.3	NP_000370.2:p.(Val592Met)	NC_000002.11:g.31595176C>T	VUS	1 lab	6abc9f53e7
9:12694134 TYRP1 C>T	9	12694134	12694134	C	T	TYRP1	c.138C>T	NM_000550.2	NP_000541.1:p.(Ser46=)	NC_000009.11:g.12694134C>T	(Likely) benign	1 lab	6abcc6b209
5:178418550 GRM6 A>G	5	178418550	178418550	A	G	GRM6	c.732T>C	NM_000843.4	NP_000834.2:p.(Cys244=)	NC_000005.9:g.178418550A>G	(Likely) benign	1 lab	6abcea53a7
2:189929388 COL5A2 C>T	2	189929388	189929388	C	T	COL5A2	c.1618-7G>A	NM_000393.4	NP_000384.2:p.?	NC_000002.11:g.189929388C>T	VUS	1 lab	6abe3a7df6
X:35993947 CFAP47 A>G	X	35993947	35993947	A	G	CFAP47	c.2630A>G	NM_001304548.1	NP_001291477.1:p.(Asn877Ser)	NC_000023.10:g.35993947A>G	VUS	1 lab	6abe49bbe1
2:95766588 MRPS5 G>T	2	95766588	95766588	G	T	MRPS5	c.364C>A	NM_001321996.1	NP_001308925.1:p.(His122Asn)	NC_000002.11:g.95766588G>T	VUS	1 lab	6abfaa9730
17:35830514 TADA2A C>G	17	35830514	35830514	C	G	TADA2A	c.906C>G	NM_001488.4	NP_001479.4:p.(Thr302=)	NC_000017.10:g.35830514C>G	VUS	1 lab	6ac1391b41
7:99693747 MCM7 C>G	7	99693747	99693747	C	G	MCM7	c.717G>C	NM_001278595.1	NP_001265524.1:p.(Thr239=)	NC_000007.13:g.99693747C>G	(Likely) benign	1 lab	6ac224d107
20:34079112 CEP250 T>C	20	34079112	34079112	T	C	CEP250	c.2829T>C	NM_007186.5	NP_009117.2:p.(Asp943=)	NC_000020.10:g.34079112T>C	(Likely) benign	1 lab	6ac2997431
3:132403469 NPHP3 G>A	3	132403469	132403469	G	A	NPHP3	c.3499C>T	NM_153240.4	NP_694972.3:p.(Arg1167Cys)	NC_000003.11:g.132403469G>A	VUS	1 lab	6ac655dbb7
8:55539482 RP1 G>C	8	55539482	55539482	G	C	RP1	c.3040G>C	NM_006269.1	NP_006260.1:p.(Asp1014His)	NC_000008.10:g.55539482G>C	VUS	1 lab	6ac7213c65
2:152348681 NEB G>C	2	152348681	152348681	G	C	NEB	c.25093C>G	NM_001271208.1	NP_001258137.1:p.(Arg8365Gly)	NC_000002.11:g.152348681G>C	VUS	1 lab	6ac732b8f3
2:179596449 TTN C>T	2	179596449	179596449	C	T	TTN	c.17153G>A	NM_001267550.1	NP_001254479.1:p.(Ser5718Asn)	NC_000002.11:g.179596449C>T	VUS	1 lab	6ac9a70556
15:41366614 INO80 G>A	15	41366614	41366614	G	A	INO80	c.1281C>T	NM_017553.3	NP_060023.1:p.(Ile427=)	NC_000015.9:g.41366614G>A	(Likely) benign	1 lab	6acb2ea6ce
16:72130263 DHX38 G>A	16	72130263	72130263	G	A	DHX38	c.207G>A	NM_014003.3	NP_054722.2:p.(Glu69=)	NC_000016.9:g.72130263G>A	(Likely) benign	1 lab	6acbc4d8f1
6:43174225 CUL9 G>A	6	43174225	43174225	G	A	CUL9	c.5189G>A	NM_015089.4	NP_055904.1:p.(Arg1730His)	NC_000006.11:g.43174225G>A	(Likely) benign	1 lab	6acdaa879b
3:93754286 ARL13B GT>G	3	93754286	93754302	GT	G	ARL13B	c.486+22del	NM_001174150.2	NP_001167621.1:p.?	NC_000003.11:g.93754302del	(Likely) benign	1 lab	6acea8cdc1
X:111003034 ALG13 A>G	X	111003034	111003034	A	G	ALG13	c.2987A>G	NM_001257231.1	NP_001244160.1:p.(Tyr996Cys)	NC_000023.10:g.111003034A>G	(Likely) benign	1 lab	6acf09fafd
3:48626872 COL7A1 C>T	3	48626872	48626872	C	T	COL7A1	c.2202G>A	NM_000094.3	NP_000085.1:p.(Glu734=)	NC_000003.11:g.48626872C>T	(Likely) benign	1 lab	6acff9ed9d
2:74326687 TET3 G>A	2	74326687	74326687	G	A	TET3	c.3552G>A	NM_001287491.2	NP_001274420.1:p.(Pro1184=)	NC_000002.11:g.74326687G>A	(Likely) benign	1 lab	6ad16f0bac
22:17590350 IL17RA C>T	22	17590350	17590350	C	T	IL17RA	c.2241C>T	NM_014339.6	NP_055154.3:p.(His747=)	NC_000022.10:g.17590350C>T	(Likely) benign	1 lab	6ad1a2ade1
8:48869809 PRKDC T>C	8	48869809	48869809	T	C	PRKDC	c.246A>G	NM_006904.6	NP_008835.5:p.(Arg82=)	NC_000008.10:g.48869809T>C	(Likely) benign	1 lab	6ad31f850a
18:14851635 ANKRD30B A>T	18	14851635	14851635	A	T	ANKRD30B	c.3692A>T	NM_001367607.1	NP_001354536.1:p.(Tyr1231Phe)	NC_000018.9:g.14851635A>T	VUS	1 lab	6ad44df025
6:10874577 GCM2 T>G	6	10874577	10874577	T	G	GCM2	c.1172A>C	NM_004752.3	NP_004743.1:p.(Tyr391Ser)	NC_000006.11:g.10874577T>G	VUS	1 lab	6ad58ffaaf
20:10639322 JAG1 G>C	20	10639322	10639322	G	C	JAG1	c.488C>G	NM_000214.3	NP_000205.1:p.(Pro163Arg)	NC_000020.10:g.10639322G>C	(Likely) pathogenic	1 lab	f59429c3a0
3:37067126 MLH1 A>T	3	37067126	37067126	A	T	MLH1	c.1039-2A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067126A>T	(Likely) pathogenic	1 lab	6ad80ad4f5
9:95997112 WNK2 C>T	9	95997112	95997112	C	T	WNK2	c.1098C>T	NM_001282394.1	NP_001269323.1:p.(Pro366=)	NC_000009.11:g.95997112C>T	(Likely) benign	1 lab	6ad861ffca
17:29560143 NF1 GAT>G	17	29560143	29560145	GAT	G	NF1	c.3621_3622del	NM_001042492.3	NP_001035957.1:p.(Arg1207SerfsTer10)	NC_000017.10:g.29560144_29560145del	(Likely) pathogenic	1 lab	6ad88cddb5
11:17591788 OTOG C>T	11	17591788	17591788	C	T	OTOG	c.1842C>T	NM_001277269.1	NP_001264198.1:p.(Ser614=)	NC_000011.9:g.17591788C>T	(Likely) benign	1 lab	6ad8ae6c55
6:109797433 ZBTB24 G>A	6	109797433	109797433	G	A	ZBTB24	c.1149C>T	NM_014797.2	NP_055612.2:p.(Cys383=)	NC_000006.11:g.109797433G>A	(Likely) benign	1 lab	6ad94d9348
12:80665524 OTOGL A>C	12	80665524	80665524	A	C	OTOGL	c.2588A>C	NM_173591.3	NP_775862.3:p.(Asn863Thr)	NC_000012.11:g.80665524A>C	VUS	1 lab	6ad9e6871c
2:98354069 ZAP70 G>A	2	98354069	98354069	G	A	ZAP70	c.1423G>A	NM_001079.3	NP_001070.2:p.(Ala475Thr)	NC_000002.11:g.98354069G>A	VUS	1 lab	6ada5824a3
15:25601114 UBE3A A>ATCTG	15	25601114	25601123	A	ATCTG	UBE3A	c.1985_1988dup	NM_130838.1	NP_570853.1:p.(Leu664ArgfsTer5)	NC_000015.9:g.25601120_25601123dup	(Likely) pathogenic	1 lab	6ada83b27e
17:18052540 MYO15A A>G	17	18052540	18052540	A	G	MYO15A	c.6967A>G	NM_016239.3	NP_057323.3:p.(Asn2323Asp)	NC_000017.10:g.18052540A>G	(Likely) benign	1 lab	6adde8e1df
1:22165987 HSPG2 G>A	1	22165987	22165987	G	A	HSPG2	c.9766C>T	NM_005529.7	NP_005520.4:p.(His3256Tyr)	NC_000001.10:g.22165987G>A	(Likely) benign	1 lab	f595b8cfe3
20:49225014 RIPOR3 C>T	20	49225014	49225014	C	T	RIPOR3	c.868G>A	NM_001290268.1	NP_001277197.1:p.(Ala290Thr)	NC_000020.10:g.49225014C>T	VUS	1 lab	6ae0a55c4b
X:25031256 ARX C>T	X	25031256	25031256	C	T	ARX	c.856G>A	NM_139058.2	NP_620689.1:p.(Gly286Ser)	NC_000023.10:g.25031256C>T	VUS	1 lab	6ae2424cb3
16:2138237 TSC2 C>T	16	2138237	2138237	C	T	TSC2	c.5170C>T	NM_000548.3	NP_000539.2:p.(Gln1724Ter)	NC_000016.9:g.2138237C>T	(Likely) pathogenic	1 lab	6ae2abde39
1:28293132 XKR8 C>A	1	28293132	28293132	C	A	XKR8	c.609C>A	NM_018053.3	NP_060523.2:p.(Tyr203Ter)	NC_000001.10:g.28293132C>A	VUS	1 lab	6ae2c2d8e5
6:116938245 RSPH4A TCAGCAACC>T	6	116938245	116938255	TCAGCAACC	T	RSPH4A	c.462_469del	NM_001010892.3	NP_001010892.1:p.(Gln155ThrfsTer12)	NC_000006.11:g.116938248_116938255del	(Likely) pathogenic	1 lab	6ae390a006
X:153540983 TKTL1 A>G	X	153540983	153540983	A	G	TKTL1	c.723A>G	NM_012253.3	NP_036385.3:p.(Ala241=)	NC_000023.10:g.153540983A>G	(Likely) benign	1 lab	6ae631dede
11:119508853 NECTIN1 G>C	11	119508853	119508853	G	C	NECTIN1	c.1332C>G	NM_203285.1	NP_976030.1:p.(Tyr444Ter)	NC_000011.9:g.119508853G>C	VUS	1 lab	6ae6bb933a
X:86067936 DACH2 G>A	X	86067936	86067936	G	A	DACH2	c.1279G>A	NM_001139514.1	NP_001132986.1:p.(Ala427Thr)	NC_000023.10:g.86067936G>A	(Likely) benign	1 lab	6aea02d5f4
15:43067833 TTBK2 G>A	15	43067833	43067833	G	A	TTBK2	c.1498C>T	NM_173500.3	NP_775771.3:p.(Arg500Cys)	NC_000015.9:g.43067833G>A	VUS	1 lab	6aea1e78ee
5:149449780 CSF1R G>A	5	149449780	149449780	G	A	CSF1R	c.1284C>T	NM_005211.3	NP_005202.2:p.(Asn428=)	NC_000005.9:g.149449780G>A	(Likely) benign	1 lab	6aeb48ef86
11:68170971 LRP5 G>A	11	68170971	68170971	G	A	LRP5	c.1605G>A	NM_002335.3	NP_002326.2:p.(Thr535=)	NC_000011.9:g.68170971G>A	(Likely) benign	1 lab	6aec00bc44
6:161969952 PRKN C>T	6	161969952	161969952	C	T	PRKN	c.1017G>A	NM_004562.2	NP_004553.2:p.(Ala339=)	NC_000006.11:g.161969952C>T	(Likely) benign	1 lab	6aec0ef430
19:8046054 ELAVL1 A>G	19	8046054	8046054	A	G	ELAVL1	c.189T>C	NM_001419.3	NP_001410.2:p.(Tyr63=)	NC_000019.9:g.8046054A>G	(Likely) benign	1 lab	6aec7d7049
17:4907156 KIF1C A>G	17	4907156	4907156	A	G	KIF1C	c.809A>G	NM_006612.6	NP_006603.2:p.(Asn270Ser)	NC_000017.10:g.4907156A>G	VUS	1 lab	f5966ec327
1:235596297 TBCE G>A	1	235596297	235596297	G	A	TBCE	c.697G>A	NM_001287801.1	NP_001274730.1:p.(Asp233Asn)	NC_000001.10:g.235596297G>A	(Likely) benign	1 lab	6af0aeb24a
4:90749313 SNCA C>G	4	90749313	90749313	C	G	SNCA	c.144G>C	NM_000345.3	NP_000336.1:p.(Val48=)	NC_000004.11:g.90749313C>G	(Likely) benign	1 lab	6af265a5b7
11:67225864 CABP4 G>A	11	67225864	67225864	G	A	CABP4	c.674G>A	NM_145200.3	NP_660201.1:p.(Arg225Gln)	NC_000011.9:g.67225864G>A	VUS	1 lab	6af2bc0be9
X:107457432 COL4A6 T>C	X	107457432	107457432	T	C	COL4A6	c.351A>G	NM_001287758.1	NP_001274687.1:p.(Arg117=)	NC_000023.10:g.107457432T>C	(Likely) benign	1 lab	6af457cdd6
16:90095646 GAS8-AS1 C>G	16	90095646	90095646	C	G	GAS8-AS1	n.664G>C	NR_122031.1		NC_000016.9:g.90095646C>G	(Likely) benign	1 lab	6af652122a
X:41333431 NYX T>A	X	41333431	41333431	T	A	NYX	c.725T>A	NM_022567.2	NP_072089.1:p.(Leu242Gln)	NC_000023.10:g.41333431T>A	VUS	1 lab	6af7246a19
17:33977576 AP2B1 C>T	17	33977576	33977576	C	T	AP2B1	c.1564C>T	NM_001030006.2	NP_001025177.1:p.(Arg522Trp)	NC_000017.10:g.33977576C>T	VUS	1 lab	6af7e3042b
20:47628497 ARFGEF2 ATTCCT>A	20	47628497	47628505	ATTCCT	A	ARFGEF2	c.3798_3802del	NM_006420.3	NP_006411.2:p.(Phe1267GlyfsTer17)	NC_000020.10:g.47628501_47628505del	(Likely) pathogenic	1 lab	6af914297e
X:122805572 THOC2 G>C	X	122805572	122805572	G	C	THOC2	c.809C>G	NM_001081550.1	NP_001075019.1:p.(Ala270Gly)	NC_000023.10:g.122805572G>C	VUS	1 lab	6af93e79d4
14:91757343 CCDC88C T>G	14	91757343	91757343	T	G	CCDC88C	c.4198A>C	NM_001080414.3	NP_001073883.2:p.(Lys1400Gln)	NC_000014.8:g.91757343T>G	VUS	1 lab	6af962d7e7
22:17578815 IL17RA T>G	22	17578815	17578815	T	G	IL17RA	c.292T>G	NM_014339.7	NP_055154.3:p.(Trp98Gly)	NC_000022.10:g.17578815T>G	VUS	1 lab	f59689c842
18:55240505 FECH C>T	18	55240505	55240505	C	T	FECH				NC_000018.9:g.55240505C>T	(Likely) benign	1 lab	6afcfd7887
X:67944176 STARD8 T>C	X	67944176	67944176	T	C	STARD8	c.3224T>C	NM_001142503.2	NP_001135975.1:p.(Val1075Ala)	NC_000023.10:g.67944176T>C	VUS	1 lab	6afd659f80
8:38934777 ADAM9 G>A	8	38934777	38934777	G	A	ADAM9	c.1728G>A	NM_003816.2	NP_003807.1:p.(Glu576=)	NC_000008.10:g.38934777G>A	(Likely) benign	1 lab	6afd8d3560
2:1652633 PXDN G>T	2	1652633	1652633	G	T	PXDN	c.2919C>A	NM_012293.2	NP_036425.1:p.(Ala973=)	NC_000002.11:g.1652633G>T	(Likely) benign	1 lab	6afe0d6631
19:46032443 OPA3 C>T	19	46032443	46032443	C	T	OPA3	c.414G>A	NM_001017989.2	NP_001017989.2:p.(Ala138=)	NC_000019.9:g.46032443C>T	(Likely) benign	1 lab	6afe60e36a
15:67457585 SMAD3 G>A	15	67457585	67457585	G	A	SMAD3	c.401-6G>A	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457585G>A	(Likely) pathogenic	1 lab	6afd13bbed
1:103388894 COL11A1 TG>T	1	103388894	103388897	TG	T	COL11A1	c.3651del	NM_001854.4	NP_001845.3:p.(Met1218TrpfsTer54)	NC_000001.10:g.103388897del	(Likely) pathogenic	1 lab	6b04a970ca
18:55992363 NEDD4L C>T	18	55992363	55992363	C	T	NEDD4L	c.649C>T	NM_001144967.2	NP_001138439.1:p.(Arg217Trp)	NC_000018.9:g.55992363C>T	VUS	1 lab	6b04d38154
1:115218260 AMPD1 A>T	1	115218260	115218260	A	T	AMPD1	c.1669T>A	NM_000036.2	NP_000027.2:p.(Ser557Thr)	NC_000001.10:g.115218260A>T	(Likely) benign	1 lab	6b05927f86
X:153590364 FLNA A>C	X	153590364	153590364	A	C	FLNA	c.2809T>G	NM_001110556.2	NP_001104026.1:p.(Tyr937Asp)	NC_000023.10:g.153590364A>C	VUS	1 lab	6b08ea8423
12:6950772 GNB3 A>G	12	6950772	6950772	A	G	GNB3	c.80A>G	NM_002075.3	NP_002066.1:p.(Asp27Gly)	NC_000012.11:g.6950772A>G	VUS	1 lab	6b0a48c69a
17:29528454 NF1 C>CT	17	29528454	29528455	C	CT	NF1	c.1212dup	NM_000267.3	NP_000258.1:p.(Thr405TyrfsTer24)	NC_000017.10:g.29528455dup	(Likely) pathogenic	1 lab	6b0ab683b1
6:118028171 NUS1 G>A	6	118028171	118028171	G	A	NUS1	c.875G>A	NM_138459.5	NP_612468.1:p.(Gly292Glu)	NC_000006.11:g.118028171G>A	VUS	1 lab	f59727251b
1:5924010 NPHP4 C>A	1	5924010	5924010	C	A	NPHP4	c.4080G>T	NM_015102.4	NP_055917.1:p.(Arg1360Ser)	NC_000001.10:g.5924010C>A	VUS	1 lab	6b0b49cd7c
5:149324152 PDE6A G>A	5	149324152	149324152	G	A	PDE6A	c.85C>T	NM_000440.2	NP_000431.2:p.(Arg29Trp)	NC_000005.9:g.149324152G>A	VUS	1 lab	6b0c0fcd7c
X:110644363 DCX CT>C	X	110644363	110644364	CT	C	DCX	c.559del	NM_001195553.2	NP_001182482.1:p.(Ser187ValfsTer3)	NC_000023.10:g.110644364del	(Likely) pathogenic	1 lab	6b0e47958c
1:207133035 FCAMR C>T	1	207133035	207133035	C	T	FCAMR	c.1562G>A	NM_001170631.2	NP_001164102.1:p.(Arg521Lys)	NC_000001.10:g.207133035C>T	(Likely) benign	1 lab	6b1004f9c3
3:123003464 ADCY5 C>T	3	123003464	123003464	C	T	ADCY5	c.3777G>A	NM_183357.2	NP_899200.1:p.(Pro1259=)	NC_000003.11:g.123003464C>T	(Likely) benign	1 lab	6b105ae394
2:73118665 SPR A>G	2	73118665	73118665	A	G	SPR	c.785A>G	NM_003124.4	NP_003115.1:p.(Ter262=)	NC_000002.11:g.73118665A>G	(Likely) benign	1 lab	6b10b2873d
9:139728202 RABL6 T>A	9	139728202	139728202	T	A	RABL6	c.736T>A	NM_001173989.2	NP_001167460.1:p.(Cys246Ser)	NC_000009.11:g.139728202T>A	VUS	1 lab	6b132efdb1
X:36009957 CFAP47 T>C	X	36009957	36009957	T	C	CFAP47	c.2864T>C	NM_001304548.1	NP_001291477.1:p.(Leu955Ser)	NC_000023.10:g.36009957T>C	VUS	1 lab	6b133b0d83
1:117142868 IGSF3 C>T	1	117142868	117142868	C	T	IGSF3	c.1724G>A	NM_001007237.2	NP_001007238.1:p.(Trp575Ter)	NC_000001.10:g.117142868C>T	(Likely) benign	1 lab	6b138d7fce
X:48673309 HDAC6 G>C	X	48673309	48673309	G	C	HDAC6	c.1059+9G>C	NM_001321226.1	NP_001308155.1:p.?	NC_000023.10:g.48673309G>C	(Likely) benign	1 lab	6b13954afd
16:72831988 ZFHX3 G>C	16	72831988	72831988	G	C	ZFHX3	c.4593C>G	NM_006885.3	NP_008816.3:p.(Pro1531=)	NC_000016.9:g.72831988G>C	VUS	1 lab	6b16f193ae
5:65350252 ERBIN G>A	5	65350252	65350252	G	A	ERBIN	c.3106G>A	NM_001253697.2	NP_001240626.1:p.(Val1036Ile)	NC_000005.9:g.65350252G>A	VUS	1 lab	f598b6abaf
4:1807885 FGFR3 CAAG>C	4	1807885	1807892	CAAG	C	FGFR3	c.1949_1951del	NM_000142.5	NP_000133.1:p.(Lys650del)	NC_000004.11:g.1807890_1807892del	VUS	1 lab	f5994b4acd
17:80039493 FASN G>A	17	80039493	80039493	G	A	FASN	c.6390C>T	NM_004104.5	NP_004095.4:p.(Ala2130=)	NC_000017.10:g.80039493G>A	(Likely) benign	1 lab	6b17a32c9c
9:135796763 TSC1 G>GT	9	135796763	135796765	G	GT	TSC1	c.723dup	NM_000368.4	NP_000359.1:p.(Leu242ThrfsTer13)	NC_000009.11:g.135796765dup	(Likely) pathogenic	1 lab	6b1909b0c1
2:44223103 LRPPRC C>T	2	44223103	44223103	C	T	LRPPRC	c.-17G>A	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44223103C>T	(Likely) benign	1 lab	f59c01572e
19:10476325 TYK2 G>A	19	10476325	10476325	G	A	TYK2	c.879C>T	NM_003331.4	NP_003322.3:p.(Ile293=)	NC_000019.9:g.10476325G>A	(Likely) benign	1 lab	6b1cf140a8
15:66996200 SMAD6 C>CCG	15	66996200	66996202	C	CCG	SMAD6	c.605_606dup	NM_005585.4	NP_005576.3:p.(Gly203ArgfsTer40)	NC_000015.9:g.66996201_66996202dup	(Likely) pathogenic	1 lab	6b1cfbf685
1:152284868 FLG A>AGTGCCTGGAGTTGTCTC	1	152284868	152284892	A	AGTGCCTGGAGTTGTCTC	FLG	c.2477_2493dup	NM_002016.1	NP_002007.1:p.(Ser832GlufsTer36)	NC_000001.10:g.152284876_152284892dup	(Likely) pathogenic	1 lab	6b1d266a2a
1:41976329 HIVEP3 C>T	1	41976329	41976329	C	T	HIVEP3	c.7014G>A	NM_024503.4	NP_078779.2:p.(Pro2338=)	NC_000001.10:g.41976329C>T	(Likely) benign	1 lab	6b1d3352e1
16:597527 CAPN15 C>T	16	597527	597527	C	T	CAPN15	c.689C>T	NM_005632.3	NP_005623.1:p.(Pro230Leu)	NC_000016.9:g.597527C>T	(Likely) benign	1 lab	6b212fd726
5:90049578 ADGRV1 A>G	5	90049578	90049578	A	G	ADGRV1	c.11309A>G	NM_032119.4	NP_115495.3:p.(Asn3770Ser)	NC_000005.9:g.90049578A>G	VUS	1 lab	6b2163fd8b
11:48146622 PTPRJ G>A	11	48146622	48146622	G	A	PTPRJ	c.977G>A	NM_002843.4	NP_002834.3:p.(Arg326Gln)	NC_000011.9:g.48146622G>A	(Likely) benign	1 lab	f59c557250
14:23889192 MYH7 G>A	14	23889192	23889192	G	A	MYH7	c.3588C>T	NM_000257.4	NP_000248.2:p.(His1196=)	NC_000014.8:g.23889192G>A	(Likely) benign	1 lab	f5a24a5be3
9:139357506 SEC16A C>A	9	139357506	139357506	C	A	SEC16A	c.4726G>T	NM_014866.1	NP_055681.1:p.(Glu1576Ter)	NC_000009.11:g.139357506C>A	VUS	1 lab	6b2312156a
19:39406941 SARS2 G>A	19	39406941	39406941	G	A	SARS2	c.1180C>T	NM_001145901.1	NP_001139373.1:p.(Pro394Ser)	NC_000019.9:g.39406941G>A	VUS	1 lab	6b2718d62b
1:33207661 NHSL3 C>A	1	33207661	33207661	C	A	NHSL3	c.106C>A	NM_020888.3	NP_065939.2:p.(Arg36Ser)	NC_000001.10:g.33207661C>A	(Likely) benign	1 lab	6b29b3f70e
1:234614625 TARBP1 G>T	1	234614625	234614625	G	T	TARBP1	c.225C>A	NM_005646.4	NP_005637.3:p.(Ser75Arg)	NC_000001.10:g.234614625G>T	(Likely) benign	1 lab	6b2aa6ae3c
X:153775015 G6PD C>A	X	153775015	153775015	C	A	G6PD	c.71G>T	NM_000402.4	NP_000393.4:p.(Arg24Leu)	NC_000023.10:g.153775015C>A	(Likely) benign	1 lab	6b2b386968
16:2138554 TSC2 G>C	16	2138554	2138554	G	C	TSC2	c.5367G>C	NM_000548.3	NP_000539.2:p.(Glu1789Asp)	NC_000016.9:g.2138554G>C	(Likely) benign	1 lab	6b2e735fe8
X:31201031 DMD C>CAGGAGGGAGAGAGA	X	31201031	31201052	C	CAGGAGGGAGAGAGA	DMD	c.9439-24_9439-11dup	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31201039_31201052dup	(Likely) benign	1 lab	6b2ec2d72f
13:25480732 CPAP C>A	13	25480732	25480732	C	A	CPAP	c.1444G>T	NM_018451.4	NP_060921.3:p.(Asp482Tyr)	NC_000013.10:g.25480732C>A	(Likely) benign	1 lab	6b2ef9c8c5
17:18062592 MYO15A C>G	17	18062592	18062592	C	G	MYO15A	c.9160C>G	NM_016239.3	NP_057323.3:p.(Pro3054Ala)	NC_000017.10:g.18062592C>G	VUS	1 lab	6b31ce3b3f
16:2112988 TSC2 C>T	16	2112988	2112988	C	T	TSC2	c.1377C>T	NM_001114382.2	NP_001107854.1:p.(Gly459=)	NC_000016.9:g.2112988C>T	(Likely) benign	1 lab	6b34c8afb3
17:29588833 NF1 GC>G	17	29588833	29588835	GC	G	NF1	c.4684del	NM_001042492.3	NP_001035957.1:p.(Asn1563ThrfsTer11)	NC_000017.10:g.29588835del	(Likely) pathogenic	1 lab	6b36be606c
6:42933801 PEX6 A>T	6	42933801	42933801	A	T	PEX6	c.2343T>A	NM_000287.3	NP_000278.3:p.(Ser781Arg)	NC_000006.11:g.42933801A>T	VUS	1 lab	6b37a724e5
X:24006677 KLHL15 A>G	X	24006677	24006677	A	G	KLHL15	c.1176T>C	NM_030624.2	NP_085127.2:p.(Thr392=)	NC_000023.10:g.24006677A>G	(Likely) benign	1 lab	6b37b451c3
9:123210195 CDK5RAP2 C>T	9	123210195	123210195	C	T	CDK5RAP2	c.3003G>A	NM_018249.5	NP_060719.4:p.(Thr1001=)	NC_000009.11:g.123210195C>T	(Likely) benign	1 lab	6b37c0f7bd
5:86633973 RASA1 G>A	5	86633973	86633973	G	A	RASA1	c.1017+65G>A	NM_002890.2	NP_002881.1:p.?	NC_000005.9:g.86633973G>A	(Likely) benign	1 lab	6b37ce9d5a
X:37545265 XK G>A	X	37545265	37545265	G	A	XK	c.51G>A	NM_021083.4	NP_066569.1:p.(Glu17=)	NC_000023.10:g.37545265G>A	(Likely) benign	1 lab	6b3c8821dd
22:29075634 TTC28 T>G	22	29075634	29075634	T	G	TTC28	c.78A>C	NM_001145418.1	NP_001138890.1:p.(Pro26=)	NC_000022.10:g.29075634T>G	(Likely) benign	1 lab	6b3ee6ae3b
16:46708485 VPS35 T>C	16	46708485	46708485	T	C	VPS35	c.1002A>G	NM_018206.5	NP_060676.2:p.(Thr334=)	NC_000016.9:g.46708485T>C	(Likely) benign	1 lab	6b3f8607cf
3:15686258 BTD G>C	3	15686258	15686258	G	C	BTD	c.895G>C	NM_000060.4	NP_000051.1:p.(Ala299Pro)	NC_000003.11:g.15686258G>C	VUS	1 lab	6b40dccef0
16:57697345 ADGRG1 G>A	16	57697345	57697345	G	A	ADGRG1	c.1952-19G>A	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57697345G>A	(Likely) benign	1 lab	6b422afc16
2:179587417 TTN A>C	2	179587417	179587417	A	C	TTN	c.22209T>G	NM_001267550.1	NP_001254479.1:p.(Thr7403=)	NC_000002.11:g.179587417A>C	(Likely) benign	1 lab	6b427236fe
1:164768959 PBX1 C>T	1	164768959	164768959	C	T	PBX1	c.534C>T	NM_002585.3	NP_002576.1:p.(His178=)	NC_000001.10:g.164768959C>T	(Likely) benign	1 lab	6b427bd459
15:23086297 NIPA1 T>TCGACACGACGGCCACGCCCAGGCCGAG	15	23086297	23086331	T	TCGACACGACGGCCACGCCCAGGCCGAG	NIPA1	c.88_114dup	NM_144599.4	NP_653200.2:p.(Leu30_Ser38dup)	NC_000015.9:g.23086305_23086331dup	VUS	1 lab	6b428135e9
4:151791687 LRBA T>C	4	151791687	151791687	T	C	LRBA	c.2439A>G	NM_006726.4	NP_006717.2:p.(Ile813Met)	NC_000004.11:g.151791687T>C	VUS	1 lab	6b42e74e8e
8:38001829 STAR G>A	8	38001829	38001829	G	A	STAR	c.820C>T	NM_000349.2	NP_000340.2:p.(Arg274Cys)	NC_000008.10:g.38001829G>A	VUS	1 lab	6b43408d2e
10:102748606 TWNK C>T	10	102748606	102748606	C	T	TWNK	c.639C>T	NM_001163812.1	NP_001157284.1:p.(Gly213=)	NC_000010.10:g.102748606C>T	(Likely) benign	1 lab	6b4372686a
15:65489299 CILP T>G	15	65489299	65489299	T	G	CILP	c.3325A>C	NM_003613.3	NP_003604.3:p.(Ser1109Arg)	NC_000015.9:g.65489299T>G	VUS	1 lab	6b4492b71d
2:179575832 TTN G>T	2	179575832	179575832	G	T	TTN	c.28131C>A	NM_001267550.1	NP_001254479.1:p.(Asn9377Lys)	NC_000002.11:g.179575832G>T	VUS	1 lab	6b44c018e2
14:91766373 CCDC88C C>T	14	91766373	91766373	C	T	CCDC88C	c.3677G>A	NM_001080414.4	NP_001073883.2:p.(Arg1226Gln)	NC_000014.8:g.91766373C>T	VUS	1 lab	f5a7a763c2
11:71146758 DHCR7 G>A	11	71146758	71146758	G	A	DHCR7	c.1091C>T	NM_001360.2	NP_001351.2:p.(Thr364Met)	NC_000011.9:g.71146758G>A	VUS	1 lab	6b4b97f089
22:19748492 TBX1 C>G	22	19748492	19748492	C	G	TBX1	c.99C>G	NM_080647.1	NP_542378.1:p.(Pro33=)	NC_000022.10:g.19748492C>G	(Likely) benign	1 lab	6b4c882095
11:1253942 MUC5B T>C	11	1253942	1253942	T	C	MUC5B	c.2007T>C	NM_002458.2	NP_002449.2:p.(Tyr669=)	NC_000011.9:g.1253942T>C	(Likely) benign	1 lab	6b4db83233
X:153043531 PLXNB3 C>T	X	153043531	153043531	C	T	PLXNB3	c.5459C>T	NM_001163257.1	NP_001156729.1:p.(Ser1820Leu)	NC_000023.10:g.153043531C>T	VUS	1 lab	6b500e6a9c
1:9322194 H6PD C>T	1	9322194	9322194	C	T	H6PD	c.822C>T	NM_004285.3	NP_004276.2:p.(Leu274=)	NC_000001.10:g.9322194C>T	(Likely) benign	1 lab	6b5168a3f0
X:5947338 NLGN4X T>C	X	5947338	5947338	T	C	NLGN4X	c.608A>G	NM_001282145.1	NP_001269074.1:p.(Tyr203Cys)	NC_000023.10:g.5947338T>C	VUS	1 lab	6b5235ae4b
14:23871927 MYH6 G>A	14	23871927	23871927	G	A	MYH6	c.981C>T	NM_002471.3	NP_002462.2:p.(Ser327=)	NC_000014.8:g.23871927G>A	(Likely) benign	1 lab	6b5383b4c3
8:145583290 SLC52A2 C>T	8	145583290	145583290	C	T	SLC52A2	c.138C>T	NM_024531.4	NP_078807.1:p.(Ser46=)	NC_000008.10:g.145583290C>T	(Likely) benign	1 lab	6b53b25c5b
X:102339353 NXF3 T>G	X	102339353	102339353	T	G	NXF3	c.268A>C	NM_022052.1	NP_071335.1:p.(Met90Leu)	NC_000023.10:g.102339353T>G	(Likely) benign	1 lab	6b53fa06fb
13:49027156 RB1 C>T	13	49027156	49027156	C	T	RB1	c.1723C>T	NM_000321.3	NP_000312.2:p.(Gln575Ter)	NC_000013.10:g.49027156C>T	(Likely) pathogenic	1 lab	f5b3016117
12:103249060 PAH C>T	12	103249060	103249060	C	T	PAH	c.560G>A	NM_000277.1	NP_000268.1:p.(Trp187Ter)	NC_000012.11:g.103249060C>T	(Likely) pathogenic	1 lab	6b575f0fec
1:978668 AGRN G>A	1	978668	978668	G	A	AGRN	c.1434G>A	NM_001305275.2	NP_001292204.1:p.(Thr478=)	NC_000001.10:g.978668G>A	(Likely) benign	1 lab	6b576b0f79
13:36905707 SPART A>C	13	36905707	36905707	A	C	SPART	c.837T>G	NM_001142296.1	NP_001135768.1:p.(Val279=)	NC_000013.10:g.36905707A>C	(Likely) benign	1 lab	6b58bef9fb
3:53779869 CACNA1D C>T	3	53779869	53779869	C	T	CACNA1D	c.3134C>T	NM_001128840.3	NP_001122312.1:p.(Thr1045Met)	NC_000003.11:g.53779869C>T	VUS	1 lab	6b599c20ad
9:99017188 HSD17B3 C>T	9	99017188	99017188	C	T	HSD17B3	c.239G>A	NM_000197.2	NP_000188.1:p.(Arg80Gln)	NC_000009.11:g.99017188C>T	(Likely) pathogenic	1 lab	6b5b425a4b
15:66010184 DENND4A T>C	15	66010184	66010184	T	C	DENND4A	c.1739A>G	NM_001320835.1	NP_001307764.1:p.(Tyr580Cys)	NC_000015.9:g.66010184T>C	VUS	1 lab	6b5d9ba136
2:61258603 PEX13 C>T	2	61258603	61258603	C	T	PEX13	c.142C>T	NM_002618.3	NP_002609.1:p.(Leu48Phe)	NC_000002.11:g.61258603C>T	VUS	1 lab	6b5dad9220
14:102901414 TECPR2 G>A	14	102901414	102901414	G	A	TECPR2	c.2260G>A	NM_014844.4	NP_055659.2:p.(Glu754Lys)	NC_000014.8:g.102901414G>A	VUS	1 lab	6b5db27e55
2:48906514 STON1-GTF2A1L A>G	2	48906514	48906514	A	G	STON1-GTF2A1L	c.3482A>G	NM_172311.2	NP_758515.1:p.(Asp1161Gly)	NC_000002.11:g.48906514A>G	VUS	1 lab	6b5e33f480
1:235594089 TBCE C>T	1	235594089	235594089	C	T	TBCE	c.630C>T	NM_003193.5	NP_003184.1:p.(Val210=)	NC_000001.10:g.235594089C>T	(Likely) benign	1 lab	6b5ed748f0
1:43913582 SZT2 TTGTC>T	1	43913582	43913590	TTGTC	T	SZT2	c.9508_9511del	NM_001365999.1	NP_001352928.1:p.(Cys3170ThrfsTer70)	NC_000001.10:g.43913587_43913590del	VUS	1 lab	6b5f046a7e
2:121726342 GLI2 G>A	2	121726342	121726342	G	A	GLI2	c.696G>A	NM_005270.4	NP_005261.2:p.(Ala232=)	NC_000002.11:g.121726342G>A	(Likely) benign	1 lab	6b60695c51
7:100637092 MUC12 C>G	7	100637092	100637092	C	G	MUC12	c.3248C>G	NM_001164462.1	NP_001157934.1:p.(Thr1083Ser)	NC_000007.13:g.100637092C>G	(Likely) benign	1 lab	6b62cc4411
16:89715908 CHMP1A G>A	16	89715908	89715908	G	A	CHMP1A	c.106-3C>T	NM_002768.4	NP_002759.2:p.?	NC_000016.9:g.89715908G>A	VUS	1 lab	6b6349ec66
5:176678783 NSD1 CT>C	5	176678783	176678786	CT	C	NSD1	c.4697del	NM_022455.5	NP_071900.2:p.(Phe1566SerfsTer8)	NC_000005.9:g.176678786del	(Likely) pathogenic	1 lab	6b6400afcf
14:76232477 TTLL5 A>G	14	76232477	76232477	A	G	TTLL5	c.1781A>G	NM_015072.4	NP_055887.3:p.(Asp594Gly)	NC_000014.8:g.76232477A>G	(Likely) benign	1 lab	6b649cca70
X:18668711 CDKL5 C>T	X	18668711	18668711	C	T	CDKL5	c.2979C>T	NM_003159.2	NP_003150.1:p.(Ser993=)	NC_000023.10:g.18668711C>T	(Likely) benign	1 lab	6b6597995b
12:65672587 MSRB3 C>T	12	65672587	65672587	C	T	MSRB3	c.39C>T	NM_198080.3	NP_932346.1:p.(Leu13=)	NC_000012.11:g.65672587C>T	(Likely) benign	1 lab	6b67a8ac1c
12:2788795 CACNA1C G>A	12	2788795	2788795	G	A	CACNA1C	c.5421G>A	NM_199460.3	NP_955630.3:p.(Ser1807=)	NC_000012.11:g.2788795G>A	(Likely) benign	1 lab	6b67fbce51
19:50100192 PRR12 G>A	19	50100192	50100192	G	A	PRR12	c.2600G>A	NM_020719.2	NP_065770.1:p.(Arg867His)	NC_000019.9:g.50100192G>A	(Likely) benign	1 lab	6b6a68830a
17:5087507 ZNF594 CTTCTT>C	17	5087507	5087517	CTTCTT	C	ZNF594	c.40_44del	NM_032530.2	NP_115919.1:p.(Lys14ValfsTer18)	NC_000017.10:g.5087513_5087517del	VUS	1 lab	6b6b484ab0
X:123182897 STAG2 A>G	X	123182897	123182897	A	G	STAG2	c.862A>G	NM_001042749.2	NP_001036214.1:p.(Ile288Val)	NC_000023.10:g.123182897A>G	(Likely) benign	1 lab	6b6e8ab493
1:2415898 PLCH2 G>A	1	2415898	2415898	G	A	PLCH2	c.717G>A	NM_001303013.1	NP_001289942.1:p.(Thr239=)	NC_000001.10:g.2415898G>A	(Likely) benign	1 lab	6b6f246506
9:137722022 COL5A1 G>A	9	137722022	137722022	G	A	COL5A1	c.5136G>A	NM_001278074.1	NP_001265003.1:p.(Leu1712=)	NC_000009.11:g.137722022G>A	VUS	1 lab	6b70db9865
22:21346515 LZTR1 GAA>G	22	21346515	21346517	GAA	G	LZTR1	c.1007_1008del	NM_006767.4	NP_006758.2:p.(Glu336GlyfsTer17)	NC_000022.10:g.21346516_21346517del	VUS	1 lab	f5b9c2fcd6
19:50216273 CPT1C T>A	19	50216273	50216273	T	A	CPT1C	c.2178T>A	NM_001199752.2	NP_001186681.1:p.(Asp726Glu)	NC_000019.9:g.50216273T>A	(Likely) benign	1 lab	6b72f7e0cb
10:69881276 MYPN G>A	10	69881276	69881276	G	A	MYPN	c.81G>A	NM_032578.4	NP_115967.2:p.(Arg27=)	NC_000010.10:g.69881276G>A	(Likely) benign	1 lab	f5bb0e1b29
2:84821161 DNAH6 C>T	2	84821161	84821161	C	T	DNAH6	c.2676C>T	NM_001370.1	NP_001361.1:p.(Leu892=)	NC_000002.11:g.84821161C>T	(Likely) benign	1 lab	6b746dd894
16:30381474 TBC1D10B G>A	16	30381474	30381474	G	A	TBC1D10B	c.31C>T	NM_015527.4	NP_056342.3:p.(Pro11Ser)	NC_000016.9:g.30381474G>A	(Likely) benign	1 lab	6b7561dd92
17:29657354 NF1 T>G	17	29657354	29657354	T	G	NF1	c.5587T>G	NM_000267.3	NP_000258.1:p.(Phe1863Val)	NC_000017.10:g.29657354T>G	VUS	1 lab	6b75c3e716
11:76903114 MYO7A G>A	11	76903114	76903114	G	A	MYO7A	c.3943G>A	NM_000260.3	NP_000251.3:p.(Gly1315Ser)	NC_000011.9:g.76903114G>A	VUS	1 lab	6b78068594
X:20252881 RPS6KA3 G>A	X	20252881	20252881	G	A	RPS6KA3	c.121C>T	NM_004586.3	NP_004577.1:p.(Gln41Ter)	NC_000023.10:g.20252881G>A	(Likely) pathogenic	1 lab	f5bb1a6a2a
19:39993642 DLL3 G>GTGCGGTCCGGGAC	19	39993642	39993659	G	GTGCGGTCCGGGAC	DLL3	c.602_614dup	NM_016941.3	NP_058637.1:p.(Pro206SerfsTer14)	NC_000019.9:g.39993647_39993659dup	VUS	1 lab	6b7843b23e
X:104464182 TEX13A C>A	X	104464182	104464182	C	A	TEX13A	c.694G>T	NM_031274.4	NP_112564.1:p.(Ala232Ser)	NC_000023.10:g.104464182C>A	(Likely) benign	1 lab	6b79acf39e
X:76939120 ATRX T>G	X	76939120	76939120	T	G	ATRX	c.1628A>C	NM_000489.5	NP_000480.3:p.(Asp543Ala)	NC_000023.10:g.76939120T>G	VUS	1 lab	6b7a2801b0
9:135787749 TSC1 GAC>G	9	135787749	135787754	GAC	G	TSC1	c.831_832del	NM_000368.5	NP_000359.1:p.(His279ProfsTer20)	NC_000009.11:g.135787753_135787754del	(Likely) pathogenic	1 lab	6b7c4f03d0
10:13698775 FRMD4A C>G	10	13698775	13698775	C	G	FRMD4A	c.2913G>C	NM_001318337.1	NP_001305266.1:p.(Ser971=)	NC_000010.10:g.13698775C>G	(Likely) benign	1 lab	6b7cf76237
10:50736472 ERCC6 C>A	10	50736472	50736472	C	A	ERCC6	c.643G>T	NM_000124.2	NP_000115.1:p.(Glu215Ter)	NC_000010.10:g.50736472C>A	(Likely) pathogenic	1 lab	6b80221557
4:103635651 MANBA C>G	4	103635651	103635651	C	G	MANBA	c.617G>C	NM_005908.3	NP_005899.3:p.(Arg206Thr)	NC_000004.11:g.103635651C>G	VUS	1 lab	6b816457c8
17:80401975 CYBC1 T>C	17	80401975	80401975	T	C	CYBC1	c.469A>G	NM_001193653.1	NP_001180582.1:p.(Ile157Val)	NC_000017.10:g.80401975T>C	(Likely) benign	1 lab	6b83f80b41
16:78458921 WWOX C>T	16	78458921	78458921	C	T	WWOX	c.760C>T	NM_016373.3	NP_057457.1:p.(Arg254Cys)	NC_000016.9:g.78458921C>T	VUS	1 lab	6b8438dbb7
6:30691495 TUBB C>T	6	30691495	30691495	C	T	TUBB	c.656C>T	NM_178014.3	NP_821133.1:p.(Thr219Ile)	NC_000006.11:g.30691495C>T	VUS	1 lab	6b84b4a698
X:11130249 HCCS A>C	X	11130249	11130249	A	C	HCCS	c.69A>C	NM_005333.5	NP_005324.3:p.(Ser23=)	NC_000023.10:g.11130249A>C	(Likely) benign	1 lab	6b85c9294e
X:69478750 P2RY4 C>A	X	69478750	69478750	C	A	P2RY4	c.725G>T	NM_002565.3	NP_002556.1:p.(Arg242Leu)	NC_000023.10:g.69478750C>A	VUS	1 lab	6b8663c3f8
20:1592023 SIRPB1 C>A	20	1592023	1592023	C	A	SIRPB1	c.413G>T	NM_001135844.3	NP_001129316.1:p.(Gly138Val)	NC_000020.10:g.1592023C>A	(Likely) benign	1 lab	6b8759a9c3
X:47835748 ZNF182 G>A	X	47835748	47835748	G	A	ZNF182	c.1738C>T	NM_001178099.1	NP_001171570.1:p.(Arg580Ter)	NC_000023.10:g.47835748G>A	VUS	1 lab	6b877f4455
1:196645144 CFH T>C	1	196645144	196645144	T	C	CFH	c.376T>C	NM_000186.3	NP_000177.2:p.(Tyr126His)	NC_000001.10:g.196645144T>C	(Likely) benign	1 lab	6b87a4d4e0
19:10334905 S1PR2 G>A	19	10334905	10334905	G	A	S1PR2	c.677C>T	NM_004230.4	NP_004221.3:p.(Pro226Leu)	NC_000019.9:g.10334905G>A	VUS	1 lab	6b8a2e77ad
3:142430774 PLS1 C>G	3	142430774	142430774	C	G	PLS1	c.1815C>G	NM_001172312.1	NP_001165783.1:p.(Leu605=)	NC_000003.11:g.142430774C>G	(Likely) benign	1 lab	6b8ab64a41
7:27835750 TAX1BP1 A>G	7	27835750	27835750	A	G	TAX1BP1	c.1550A>G	NM_006024.6	NP_006015.4:p.(Asp517Gly)	NC_000007.13:g.27835750A>G	VUS	1 lab	6b8f533d38
1:171605522 MYOC G>A	1	171605522	171605522	G	A	MYOC	c.1058C>T	NM_000261.1	NP_000252.1:p.(Thr353Ile)	NC_000001.10:g.171605522G>A	VUS	1 lab	6b901d767a
16:4386909 GLIS2 T>G	16	4386909	4386909	T	G	GLIS2	c.959T>G	NM_001318918.1	NP_001305847.1:p.(Phe320Cys)	NC_000016.9:g.4386909T>G	VUS	1 lab	6b9044d09d
11:102988506 DYNC2H1 G>A	11	102988506	102988506	G	A	DYNC2H1	c.913G>A	NM_001080463.1	NP_001073932.1:p.(Val305Met)	NC_000011.9:g.102988506G>A	VUS	1 lab	6b90ae5c1d
16:81944281 PLCG2 G>A	16	81944281	81944281	G	A	PLCG2	c.1890G>A	NM_002661.3	NP_002652.2:p.(Arg630=)	NC_000016.9:g.81944281G>A	(Likely) benign	1 lab	6b90e04af1
2:179566250 TTN C>T	2	179566250	179566250	C	T	TTN	c.30598+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566250C>T	VUS	1 lab	f5bda3f07b
15:23889835 MAGEL2 G>C	15	23889835	23889835	G	C	MAGEL2	c.3055C>G	NM_019066.4	NP_061939.3:p.(Pro1019Ala)	NC_000015.9:g.23889835G>C	VUS	1 lab	6b91d64d5c
X:67652842 OPHN1 C>T	X	67652842	67652842	C	T	OPHN1	c.21G>A	NM_002547.2	NP_002538.1:p.(Glu7=)	NC_000023.10:g.67652842C>T	(Likely) benign	1 lab	6b921cf5af
19:14877877 ADGRE2 C>G	19	14877877	14877877	C	G	ADGRE2	c.400G>C	NM_013447.3	NP_038475.2:p.(Gly134Arg)	NC_000019.9:g.14877877C>G	(Likely) benign	1 lab	6b9357c1ba
X:148039870 AFF2 A>G	X	148039870	148039870	A	G	AFF2	c.2572A>G	NM_002025.3	NP_002016.2:p.(Ile858Val)	NC_000023.10:g.148039870A>G	(Likely) benign	1 lab	6b9749b3ee
4:124323236 SPRY1 G>C	4	124323236	124323236	G	C	SPRY1	c.490G>C	NM_001258038.2	NP_001244967.1:p.(Asp164His)	NC_000004.11:g.124323236G>C	(Likely) benign	1 lab	6b9793ef7a
3:180372600 CCDC39 T>C	3	180372600	180372600	T	C	CCDC39	c.880A>G	NM_181426.2	NP_852091.1:p.(Arg294Gly)	NC_000003.11:g.180372600T>C	VUS	1 lab	6b97ffb099
11:68131241 LRP5 C>T	11	68131241	68131241	C	T	LRP5	c.713C>T	NM_002335.3	NP_002326.2:p.(Thr238Met)	NC_000011.9:g.68131241C>T	VUS	1 lab	6b99c0f8dc
19:45901535 PPP1R13L GT>G	19	45901535	45901536	GT	G	PPP1R13L	c.41del	NM_006663.4	NP_006654.2:p.(Asp14AlafsTer2)	NC_000019.9:g.45901536del	VUS	1 lab	6b9a95c622
X:86868936 KLHL4 A>G	X	86868936	86868936	A	G	KLHL4	c.479A>G	NM_019117.4	NP_061990.2:p.(His160Arg)	NC_000023.10:g.86868936A>G	(Likely) benign	1 lab	6ba0f60f5a
X:22266025 PHEX C>T	X	22266025	22266025	C	T	PHEX	c.2205C>T	NM_000444.5	NP_000435.3:p.(Pro735=)	NC_000023.10:g.22266025C>T	(Likely) benign	1 lab	6ba3265771
17:73228000 NUP85 G>T	17	73228000	73228000	G	T	NUP85	c.1184G>T	NM_001303276.1	NP_001290205.1:p.(Arg395Leu)	NC_000017.10:g.73228000G>T	VUS	1 lab	6ba3c4d7a2
18:72775888 ZNF407 C>T	18	72775888	72775888	C	T	ZNF407	c.6211C>T	NM_017757.2	NP_060227.2:p.(Arg2071Trp)	NC_000018.9:g.72775888C>T	VUS	1 lab	6ba3f8ee6d
1:235872426 LYST C>G	1	235872426	235872426	C	G	LYST	c.10108G>C	NM_001301365.1	NP_001288294.1:p.(Ala3370Pro)	NC_000001.10:g.235872426C>G	VUS	1 lab	6ba61dc066
4:155665792 LRAT T>G	4	155665792	155665792	T	G	LRAT	c.314T>G	NM_004744.4	NP_004735.2:p.(Val105Gly)	NC_000004.11:g.155665792T>G	VUS	1 lab	6ba6b43945
7:24745875 GSDME A>C	7	24745875	24745875	A	C	GSDME	c.1111T>G	NM_004403.2	NP_004394.1:p.(Cys371Gly)	NC_000007.13:g.24745875A>C	(Likely) benign	1 lab	6ba6b77727
9:101056109 GABBR2 C>T	9	101056109	101056109	C	T	GABBR2	c.2618G>A	NM_005458.7	NP_005449.5:p.(Arg873Gln)	NC_000009.11:g.101056109C>T	VUS	1 lab	6ba8d45a3c
15:31320576 TRPM1 G>A	15	31320576	31320576	G	A	TRPM1	c.3303C>T	NM_001252020.1	NP_001238949.1:p.(Val1101=)	NC_000015.9:g.31320576G>A	(Likely) benign	1 lab	6ba9357113
14:64457805 SYNE2 G>A	14	64457805	64457805	G	A	SYNE2	c.2618G>A	NM_182914.2	NP_878918.2:p.(Ser873Asn)	NC_000014.8:g.64457805G>A	(Likely) benign	1 lab	6ba96fda8f
1:197074268 ASPM T>C	1	197074268	197074268	T	C	ASPM	c.4113A>G	NM_018136.4	NP_060606.3:p.(Lys1371=)	NC_000001.10:g.197074268T>C	(Likely) benign	1 lab	6baa4adc47
15:85186803 WDR73 G>A	15	85186803	85186803	G	A	WDR73	c.1035C>T	NM_032856.3	NP_116245.2:p.(Thr345=)	NC_000015.9:g.85186803G>A	(Likely) benign	1 lab	6baa55b61c
X:32591950 DMD C>T	X	32591950	32591950	C	T	DMD	c.1247G>A	NM_004010.3	NP_004001.1:p.(Arg416Gln)	NC_000023.10:g.32591950C>T	VUS	1 lab	6baa75d515
X:48673809 HDAC6 G>A	X	48673809	48673809	G	A	HDAC6	c.1168G>A	NM_001321226.1	NP_001308155.1:p.(Ala390Thr)	NC_000023.10:g.48673809G>A	(Likely) benign	1 lab	6baa9c1dc3
8:62460729 ASPH G>A	8	62460729	62460729	G	A	ASPH	c.1665C>T	NM_004318.3	NP_004309.2:p.(His555=)	NC_000008.10:g.62460729G>A	(Likely) benign	1 lab	6bad5b7079
5:40853224 CARD6 A>C	5	40853224	40853224	A	C	CARD6	c.1790A>C	NM_032587.4	NP_115976.2:p.(Gln597Pro)	NC_000005.9:g.40853224A>C	VUS	1 lab	6baed58496
3:46900980 MYL3 C>T	3	46900980	46900980	C	T	MYL3	c.466G>A	NM_000258.2	NP_000249.1:p.(Val156Met)	NC_000003.11:g.46900980C>T	VUS	1 lab	6baf9e3123
9:135797307 TSC1 A>C	9	135797307	135797307	A	C	TSC1	c.562T>G	NM_000368.4	NP_000359.1:p.(Phe188Val)	NC_000009.11:g.135797307A>C	(Likely) pathogenic	1 lab	6bb14d4f7e
17:8133889 CTC1 A>C	17	8133889	8133889	A	C	CTC1	c.2750T>G	NM_025099.6	NP_079375.3:p.(Met917Arg)	NC_000017.10:g.8133889A>C	(Likely) benign	1 lab	6bb4f6a9bc
12:58135698 AGAP2 G>A	12	58135698	58135698	G	A	AGAP2	c.157C>T	NM_014770.3	NP_055585.1:p.(Arg53Ter)	NC_000012.11:g.58135698G>A	VUS	1 lab	6bb603de01
11:57561543 CTNND1 A>G	11	57561543	57561543	A	G	CTNND1	c.257A>G	NM_001085458.1	NP_001078927.1:p.(Asn86Ser)	NC_000011.9:g.57561543A>G	(Likely) benign	1 lab	6bb75acf8b
4:126328182 FAT4 G>C	4	126328182	126328182	G	C	FAT4	c.5455G>C	NM_001291303.1	NP_001278232.1:p.(Gly1819Arg)	NC_000004.11:g.126328182G>C	VUS	1 lab	6bb80e2325
9:139401034 NOTCH1 C>A	9	139401034	139401034	C	A	NOTCH1	c.3959G>T	NM_017617.5	NP_060087.3:p.(Gly1320Val)	NC_000009.11:g.139401034C>A	VUS	1 lab	6bb82027fc
X:128694625 OCRL T>C	X	128694625	128694625	T	C	OCRL	c.821T>C	NM_000276.3	NP_000267.2:p.(Ile274Thr)	NC_000023.10:g.128694625T>C	(Likely) pathogenic	1 lab	6bb8799427
19:3977513 EEF2 G>A	19	3977513	3977513	G	A	EEF2	c.2163C>T	NM_001961.3	NP_001952.1:p.(Ile721=)	NC_000019.9:g.3977513G>A	(Likely) benign	1 lab	6bb8d70e10
3:48506471 ATRIP C>T	3	48506471	48506471	C	T	ATRIP	c.2297C>T	NM_130384.3	NP_569055.1:p.(Thr766Met)	NC_000003.11:g.48506471C>T	(Likely) benign	1 lab	6bb8ffca81
5:89949583 ADGRV1 C>T	5	89949583	89949583	C	T	ADGRV1	c.4192C>T	NM_032119.4	NP_115495.3:p.(Leu1398Phe)	NC_000005.9:g.89949583C>T	VUS	1 lab	6bb93f659a
13:49027133 RB1 C>A	13	49027133	49027133	C	A	RB1	c.1700C>A	NM_000321.3	NP_000312.2:p.(Ser567Ter)	NC_000013.10:g.49027133C>A	(Likely) pathogenic	1 lab	f5c5b4247c
2:170493075 PPIG G>A	2	170493075	170493075	G	A	PPIG	c.1307G>A	NM_004792.3	NP_004783.2:p.(Arg436Lys)	NC_000002.11:g.170493075G>A	VUS	1 lab	6bbf40227a
14:105415719 AHNAK2 A>G	14	105415719	105415719	A	G	AHNAK2	c.6069T>C	NM_138420.3	NP_612429.2:p.(Ser2023=)	NC_000014.8:g.105415719A>G	(Likely) benign	1 lab	6bbf6a8ebf
19:44833281 ZNF112 A>G	19	44833281	44833281	A	G	ZNF112	c.1047T>C	NM_001083335.1	NP_001076804.1:p.(Tyr349=)	NC_000019.9:g.44833281A>G	(Likely) benign	1 lab	6bbf89b8c7
18:74091456 ZNF516 C>T	18	74091456	74091456	C	T	ZNF516	c.2614G>A	NM_014643.3	NP_055458.1:p.(Gly872Arg)	NC_000018.9:g.74091456C>T	VUS	1 lab	6bc1e04f12
11:57428771 CLP1 A>G	11	57428771	57428771	A	G	CLP1	c.1141A>G	NM_006831.2	NP_006822.1:p.(Thr381Ala)	NC_000011.9:g.57428771A>G	(Likely) benign	1 lab	6bc1e5779d
2:48033502 MSH6 G>A	2	48033502	48033502	G	A	MSH6	c.3801+5G>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033502G>A	VUS	1 lab	6bc22c39ef
9:133346868 ASS1 G>A	9	133346868	133346868	G	A	ASS1	c.567-4G>A	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133346868G>A	(Likely) benign	1 lab	6bc26ad72f
8:62559361 ASPH C>T	8	62559361	62559361	C	T	ASPH	c.567G>A	NM_004318.3	NP_004309.2:p.(Ala189=)	NC_000008.10:g.62559361C>T	(Likely) benign	1 lab	6bc46e1353
17:48674137 CACNA1G G>A	17	48674137	48674137	G	A	CACNA1G	c.3111G>A	NM_018896.4	NP_061496.2:p.(Pro1037=)	NC_000017.10:g.48674137G>A	(Likely) benign	1 lab	6bc62ac275
9:135798848 TSC1 C>T	9	135798848	135798848	C	T	TSC1	c.395G>A	NM_000368.4	NP_000359.1:p.(Gly132Asp)	NC_000009.11:g.135798848C>T	(Likely) pathogenic	1 lab	6bc6c453dc
8:42233230 DKK4 G>A	8	42233230	42233230	G	A	DKK4	c.230C>T	NM_014420.3	NP_055235.1:p.(Ala77Val)	NC_000008.10:g.42233230G>A	VUS	1 lab	6bc7e8c9e4
6:56357865 DST T>C	6	56357865	56357865	T	C	DST	c.14060A>G	NM_001144769.2	NP_001138241.1:p.(Asn4687Ser)	NC_000006.11:g.56357865T>C	VUS	1 lab	6bca328607
4:113539377 ZGRF1 C>A	4	113539377	113539377	C	A	ZGRF1	c.1821G>T	NM_018392.4	NP_060862.3:p.(Glu607Asp)	NC_000004.11:g.113539377C>A	(Likely) benign	1 lab	6bca9ba7f8
19:11686045 ACP5 A>G	19	11686045	11686045	A	G	ACP5	c.758T>C	NM_001111035.3	NP_001104505.1:p.(Val253Ala)	NC_000019.9:g.11686045A>G	VUS	1 lab	f5ccf07d2e
1:1179474 C1QTNF12 G>A	1	1179474	1179474	G	A	C1QTNF12	c.391C>T	NM_001014980.2	NP_001014980.1:p.(Arg131Cys)	NC_000001.10:g.1179474G>A	VUS	1 lab	6bedb4c9bd
1:39826588 MACF1 T>C	1	39826588	39826588	T	C	MACF1	c.6182T>C	NM_012090.5	NP_036222.3:p.(Ile2061Thr)	NC_000001.10:g.39826588T>C	VUS	1 lab	f5cd9a4936
11:12904541 TEAD1 C>G	11	12904541	12904541	C	G	TEAD1	c.575-7C>G	NM_021961.5	NP_068780.2:p.?	NC_000011.9:g.12904541C>G	(Likely) benign	1 lab	6bce9bff27
3:123166565 ADCY5 G>A	3	123166565	123166565	G	A	ADCY5	c.828C>T	NM_183357.2	NP_899200.1:p.(Ala276=)	NC_000003.11:g.123166565G>A	(Likely) benign	1 lab	6bd07d9ab4
7:77824343 MAGI2 G>A	7	77824343	77824343	G	A	MAGI2	c.2117C>T	NM_012301.4	NP_036433.2:p.(Thr706Met)	NC_000007.13:g.77824343G>A	VUS	1 lab	f5d046344a
16:731498 STUB1 G>A	16	731498	731498	G	A	STUB1	c.203G>A	NM_001293197.1	NP_001280126.1:p.(Arg68Gln)	NC_000016.9:g.731498G>A	VUS	1 lab	6bd16873b0
15:31218125 FAN1 G>A	15	31218125	31218125	G	A	FAN1	c.2471G>A	NM_014967.4	NP_055782.3:p.(Arg824His)	NC_000015.9:g.31218125G>A	(Likely) benign	1 lab	6bd2420ae0
2:189963466 COL5A2 C>T	2	189963466	189963466	C	T	COL5A2	c.389G>A	NM_000393.4	NP_000384.2:p.(Arg130His)	NC_000002.11:g.189963466C>T	VUS	1 lab	6bd2e6654e
3:44816778 KIF15 G>A	3	44816778	44816778	G	A	KIF15	c.95G>A	NM_020242.3	NP_064627.1:p.(Arg32Gln)	NC_000003.11:g.44816778G>A	VUS	1 lab	6bd366ac84
8:21978648 HR G>A	8	21978648	21978648	G	A	HR	c.2297C>T	NM_005144.5	NP_005135.2:p.(Ala766Val)	NC_000008.10:g.21978648G>A	(Likely) pathogenic	1 lab	f5d083b4e0
17:1580264 PRPF8 A>G	17	1580264	1580264	A	G	PRPF8	c.2181+6T>C	NM_006445.3	NP_006436.3:p.?	NC_000017.10:g.1580264A>G	VUS	1 lab	6bd7c5d1e9
2:179439715 TTN A>T	2	179439715	179439715	A	T	TTN	c.71144T>A	NM_001267550.1	NP_001254479.1:p.(Val23715Asp)	NC_000002.11:g.179439715A>T	VUS	1 lab	6bda3be47e
13:32905013 BRCA2 T>C	13	32905013	32905013	T	C	BRCA2	c.682-43T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905013T>C	(Likely) benign	1 lab	6bdd7f0c59
2:179579791 TTN C>T	2	179579791	179579791	C	T	TTN	c.26122G>A	NM_001267550.2	NP_001254479.2:p.(Ala8708Thr)	NC_000002.11:g.179579791C>T	VUS	1 lab	f5d71a2f72
X:107413232 COL4A6 G>A	X	107413232	107413232	G	A	COL4A6	c.3559C>T	NM_001287758.1	NP_001274687.1:p.(Pro1187Ser)	NC_000023.10:g.107413232G>A	VUS	1 lab	6bddc26b65
7:151841891 KMT2C A>G	7	151841891	151841891	A	G	KMT2C	c.14250T>C	NM_170606.2	NP_733751.2:p.(Tyr4750=)	NC_000007.13:g.151841891A>G	(Likely) benign	1 lab	6be0b5c07d
3:164781261 SI G>A	3	164781261	164781261	G	A	SI	c.876C>T	NM_001041.3	NP_001032.2:p.(Phe292=)	NC_000003.11:g.164781261G>A	(Likely) benign	1 lab	6be113c584
5:635531 CEP72 G>A	5	635531	635531	G	A	CEP72	c.736G>A	NM_018140.4	NP_060610.2:p.(Gly246Arg)	NC_000005.9:g.635531G>A	VUS	1 lab	6be1e7efb9
13:23904913 SACS GA>G	13	23904913	23904917	GA	G	SACS	c.13101del	NM_014363.6	NP_055178.3:p.(Leu4368Ter)	NC_000013.10:g.23904917del	(Likely) pathogenic	1 lab	f5d917b2f6
5:131649405 SLC22A4 T>A	5	131649405	131649405	T	A	SLC22A4	c.596T>A	NM_003059.3	NP_003050.2:p.(Leu199Ter)	NC_000005.9:g.131649405T>A	(Likely) pathogenic	1 lab	6be2e2bfec
16:2121762 TSC2 A>G	16	2121762	2121762	A	G	TSC2	c.1947-23A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121762A>G	(Likely) pathogenic	1 lab	6be4e7efec
9:137619149 COL5A1 G>A	9	137619149	137619149	G	A	COL5A1	c.692G>A	NM_000093.4	NP_000084.3:p.(Arg231Gln)	NC_000009.11:g.137619149G>A	VUS	1 lab	6be8111293
16:84050336 SLC38A8 G>A	16	84050336	84050336	G	A	SLC38A8	c.954-4C>T	NM_001080442.2	NP_001073911.1:p.?	NC_000016.9:g.84050336G>A	(Likely) benign	1 lab	6beb2e3013
5:13876826 DNAH5 A>C	5	13876826	13876826	A	C	DNAH5	c.3363T>G	NM_001369.2	NP_001360.1:p.(Ser1121=)	NC_000005.9:g.13876826A>C	(Likely) benign	1 lab	6bebbe4651
17:76989931 CANT1 T>TGGCGC	17	76989931	76989944	T	TGGCGC	CANT1	c.902_906dup	NM_138793.3	NP_620148.1:p.(Ser303AlafsTer21)	NC_000017.10:g.76989940_76989944dup	(Likely) pathogenic	1 lab	6bec58dc49
2:26696904 OTOF G>A	2	26696904	26696904	G	A	OTOF	c.3363C>T	NM_194248.2	NP_919224.1:p.(Pro1121=)	NC_000002.11:g.26696904G>A	(Likely) benign	1 lab	6bee010dfc
3:178937350 PIK3CA C>T	3	178937350	178937350	C	T	PIK3CA	c.1747-9C>T	NM_006218.2	NP_006209.2:p.?	NC_000003.11:g.178937350C>T	(Likely) benign	1 lab	6bef76a9bc
2:179449406 TTN C>A	2	179449406	179449406	C	A	TTN	c.64962G>T	NM_001267550.1	NP_001254479.1:p.(Gln21654His)	NC_000002.11:g.179449406C>A	VUS	1 lab	6bf0345061
X:2772110 GYG2 C>A	X	2772110	2772110	C	A	GYG2	c.332C>A	NM_003918.2	NP_003909.2:p.(Pro111His)	NC_000023.10:g.2772110C>A	VUS	1 lab	6bf1fcc9ef
X:70823638 GCNA G>A	X	70823638	70823638	G	A	GCNA	c.511G>A	NM_052957.4	NP_443189.1:p.(Asp171Asn)	NC_000023.10:g.70823638G>A	(Likely) benign	1 lab	6bf3f6dbff
1:182026900 ZNF648 A>G	1	182026900	182026900	A	G	ZNF648	c.246T>C	NM_001009992.1	NP_001009992.1:p.(Ser82=)	NC_000001.10:g.182026900A>G	(Likely) benign	1 lab	6bf517bb70
11:17581153 OTOG G>A	11	17581153	17581153	G	A	OTOG	c.1322G>A	NM_001277269.1	NP_001264198.1:p.(Arg441Gln)	NC_000011.9:g.17581153G>A	VUS	1 lab	6bf591d440
3:52523396 NISCH C>T	3	52523396	52523396	C	T	NISCH	c.3158C>T	NM_007184.3	NP_009115.2:p.(Pro1053Leu)	NC_000003.11:g.52523396C>T	(Likely) benign	1 lab	6bf7c32c9b
13:99502364 MISSING G>C	13	99502364	99502364	G	C	MISSING				NC_000013.10:g.99502364G>C	VUS	1 lab	6bfa4ba88e
5:138268587 CTNNA1 C>A	5	138268587	138268587	C	A	CTNNA1	c.2444C>A	NM_001290307.2	NP_001277236.1:p.(Thr815Asn)	NC_000005.9:g.138268587C>A	VUS	1 lab	6bfd021e70
9:399267 DOCK8 T>TGC	9	399267	399268	T	TGC	DOCK8	c.3234+8_3234+9insGC	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.399267_399268insGC	(Likely) benign	1 lab	6bfe247a6e
22:21348894 LZTR1 CT>C	22	21348894	21348895	CT	C	LZTR1	c.1664del	NM_006767.4	NP_006758.2:p.(Leu555ArgfsTer37)	NC_000022.10:g.21348895del	(Likely) pathogenic	1 lab	6bfec40368
5:149360429 SLC26A2 A>G	5	149360429	149360429	A	G	SLC26A2	c.1273A>G	NM_000112.3	NP_000103.2:p.(Asn425Asp)	NC_000005.9:g.149360429A>G	(Likely) pathogenic	1 lab	6c0008da70
19:50365433 PNKP G>A	19	50365433	50365433	G	A	PNKP	c.1126+9C>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50365433G>A	(Likely) benign	1 lab	6c0171bf8f
1:7902731 PER3 G>A	1	7902731	7902731	G	A	PER3	c.2590-1G>A	NM_001289864.1	NP_001276793.1:p.?	NC_000001.10:g.7902731G>A	(Likely) pathogenic	1 lab	6c018440a8
5:147493952 SPINK5 T>C	5	147493952	147493952	T	C	SPINK5	c.1915T>C	NM_001127698.1	NP_001121170.1:p.(Leu639=)	NC_000005.9:g.147493952T>C	(Likely) benign	1 lab	6c01bd9254
10:121432198 BAG3 T>G	10	121432198	121432198	T	G	BAG3	c.909+30T>G	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121432198T>G	(Likely) benign	1 lab	6c0337af69
6:118635286 SLC35F1 G>A	6	118635286	118635286	G	A	SLC35F1	c.1098G>A	NM_001029858.4	NP_001025029.2:p.(Val366=)	NC_000006.11:g.118635286G>A	(Likely) benign	1 lab	6c03c22874
19:41066084 SPTBN4 G>T	19	41066084	41066084	G	T	SPTBN4	c.5690G>T	NM_020971.3	NP_066022.2:p.(Gly1897Val)	NC_000019.9:g.41066084G>T	VUS	1 lab	f5da76a36a
17:74076014 ZACN C>T	17	74076014	74076014	C	T	ZACN	c.313C>T	NM_180990.3	NP_851321.2:p.(Arg105Trp)	NC_000017.10:g.74076014C>T	(Likely) benign	1 lab	6c04cf99a4
22:51117841 MISSING T>C	22	51117841	51117841	T	C	MISSING				NC_000022.10:g.51117841T>C	(Likely) benign	1 lab	6c06ec2963
8:61693681 CHD7 AAAG>A	8	61693681	61693692	AAAG	A	CHD7	c.1797_1799del	NM_017780.4	NP_060250.2:p.(Lys602del)	NC_000008.10:g.61693690_61693692del	(Likely) benign	1 lab	6c09bc3be9
X:19377768 PDHA1 T>C	X	19377768	19377768	T	C	PDHA1	c.1284T>C	NM_001173454.1	NP_001166925.1:p.(Ser428=)	NC_000023.10:g.19377768T>C	(Likely) benign	1 lab	6c0aed9ae8
17:29663734 NF1 GAT>TATC	17	29663734	29663736	GAT	TATC	NF1	c.6166_6168delinsTATC	NM_000267.3	NP_000258.1:p.(Asp2056TyrfsTer19)	NC_000017.10:g.29663734_29663736delinsTATC	(Likely) pathogenic	1 lab	6c0cd5cb18
11:17632813 OTOG C>G	11	17632813	17632813	C	G	OTOG	c.6002C>G	NM_001277269.1	NP_001264198.1:p.(Ala2001Gly)	NC_000011.9:g.17632813C>G	(Likely) benign	1 lab	6c0ea92312
17:3660416 ITGAE A>G	17	3660416	3660416	A	G	ITGAE	c.1033T>C	NM_002208.5	NP_002199.3:p.(Phe345Leu)	NC_000017.10:g.3660416A>G	VUS	1 lab	6c0f456c39
1:47753287 STIL C>T	1	47753287	47753287	C	T	STIL	c.1069G>A	NM_001282936.1	NP_001269865.1:p.(Ala357Thr)	NC_000001.10:g.47753287C>T	(Likely) benign	1 lab	6c10c904c6
1:220363488 RAB3GAP2 A>G	1	220363488	220363488	A	G	RAB3GAP2	c.1632T>C	NM_012414.3	NP_036546.2:p.(Ser544=)	NC_000001.10:g.220363488A>G	(Likely) benign	1 lab	6c1606ec95
6:31237299 HLA-C C>T	6	31237299	31237299	C	T	HLA-C				NC_000006.11:g.31237299C>T	(Likely) benign	1 lab	6c163e50e9
11:47359112 MYBPC3 T>C	11	47359112	47359112	T	C	MYBPC3	c.2432A>G	NM_000256.3	NP_000247.2:p.(Lys811Arg)	NC_000011.9:g.47359112T>C	(Likely) pathogenic	1 lab	6c17f9b2e5
X:152914768 DUSP9 C>T	X	152914768	152914768	C	T	DUSP9	c.455C>T	NM_001318503.2	NP_001305432.1:p.(Pro152Leu)	NC_000023.10:g.152914768C>T	(Likely) benign	1 lab	6c19d6cae9
10:7786223 ITIH2 G>A	10	7786223	7786223	G	A	ITIH2	c.2388G>A	NM_002216.3	NP_002207.2:p.(Thr796=)	NC_000010.10:g.7786223G>A	VUS	1 lab	6c1a203328
19:6697382 C3 G>A	19	6697382	6697382	G	A	C3	c.2769C>T	NM_000064.2	NP_000055.2:p.(Asp923=)	NC_000019.9:g.6697382G>A	(Likely) benign	1 lab	6c1a2f953f
X:153588659 FLNA G>A	X	153588659	153588659	G	A	FLNA	c.3504C>T	NM_001110556.2	NP_001104026.1:p.(Pro1168=)	NC_000023.10:g.153588659G>A	(Likely) benign	1 lab	6c1a92f331
13:25480091 CPAP TTCA>T	13	25480091	25480096	TTCA	T	CPAP	c.2082_2084del	NM_018451.5	NP_060921.3:p.(Asp694del)	NC_000013.10:g.25480094_25480096del	VUS	1 lab	6c1bce1dcd
11:86868361 TMEM135 GT>G	11	86868361	86868373	GT	G	TMEM135	c.397-10del	NM_022918.4	NP_075069.3:p.?	NC_000011.9:g.86868373del	(Likely) benign	1 lab	f5dfede837
20:34091841 CEP250 G>T	20	34091841	34091841	G	T	CEP250	c.5644G>T	NM_007186.5	NP_009117.2:p.(Val1882Phe)	NC_000020.10:g.34091841G>T	VUS	1 lab	6c1efc3ec3
9:34660289 IL11RA T>TA	9	34660289	34660290	T	TA	IL11RA	c.972dup	NM_001142784.2	NP_001136256.1:p.(Pro325ThrfsTer34)	NC_000009.11:g.34660290dup	(Likely) pathogenic	1 lab	6c1f8eab8d
17:29548843 NF1 T>C	17	29548843	29548843	T	C	NF1	c.1642-25T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548843T>C	(Likely) benign	1 lab	6c21477a70
17:29592248 NF1 C>A	17	29592248	29592248	C	A	NF1	c.4726C>A	NM_001042492.2	NP_001035957.1:p.(His1576Asn)	NC_000017.10:g.29592248C>A	VUS	1 lab	6c23ec93b4
1:158583649 SPTA1 T>C	1	158583649	158583649	T	C	SPTA1	c.6851A>G	NM_003126.3	NP_003117.2:p.(Asp2284Gly)	NC_000001.10:g.158583649T>C	VUS	1 lab	6c253b1c20
11:12923524 TEAD1 A>G	11	12923524	12923524	A	G	TEAD1	c.737A>G	NM_021961.5	NP_068780.2:p.(Asn246Ser)	NC_000011.9:g.12923524A>G	(Likely) benign	1 lab	6c25dabf75
20:30414749 MYLK2 A>C	20	30414749	30414749	A	C	MYLK2	c.1224+8A>C	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30414749A>C	(Likely) benign	1 lab	6c27468da7
11:34139989 NAT10 A>G	11	34139989	34139989	A	G	NAT10	c.719A>G	NM_024662.2	NP_078938.2:p.(Glu240Gly)	NC_000011.9:g.34139989A>G	VUS	1 lab	6c2859e93e
7:94230081 SGCE GA>G	7	94230081	94230083	GA	G	SGCE	c.913del	NM_003919.3	NP_003910.1:p.(Ser305LeufsTer4)	NC_000007.13:g.94230083del	(Likely) pathogenic	1 lab	f5e08acefc
12:66718839 HELB AT>A	12	66718839	66718843	AT	A	HELB	c.2607del	NM_001370285.1	NP_001357214.1:p.(Phe869LeufsTer4)	NC_000012.11:g.66718843del	VUS	1 lab	6c29d8bd3c
7:75614450 POR GC>G	7	75614450	75614456	GC	G	POR	c.1329del	NM_000941.3	NP_000932.3:p.(Ile444SerfsTer101)	NC_000007.13:g.75614456del	(Likely) pathogenic	1 lab	6c2b8597da
17:29483133 NF1 GT>G	17	29483133	29483135	GT	G	NF1	c.195del	NM_001042492.3	NP_001035957.1:p.(Asn66ThrfsTer3)	NC_000017.10:g.29483135del	(Likely) pathogenic	1 lab	6c2bc0024b
9:140002007 MAN1B1 C>T	9	140002007	140002007	C	T	MAN1B1	c.1789C>T	NM_016219.4	NP_057303.2:p.(Arg597Trp)	NC_000009.11:g.140002007C>T	VUS	1 lab	6c2c665ef1
21:46908324 COL18A1 CCTG>C	21	46908324	46908327	CCTG	C	COL18A1	c.1897-7_1897-5del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46908325_46908327del	(Likely) pathogenic	1 lab	6c2d97850d
5:11084010 CTNND2 C>G	5	11084010	11084010	C	G	CTNND2	c.2638-1052G>C	NM_001332.3	NP_001323.1:p.?	NC_000005.9:g.11084010C>G	(Likely) benign	1 lab	6c2e5fd7ca
19:1221975 STK11 G>A	19	1221975	1221975	G	A	STK11	c.890G>A	NM_000455.4	NP_000446.1:p.(Arg297Lys)	NC_000019.9:g.1221975G>A	VUS	1 lab	6c30c63f89
1:98039445 DPYD C>A	1	98039445	98039445	C	A	DPYD	c.1210G>T	NM_000110.3	NP_000101.2:p.(Val404Phe)	NC_000001.10:g.98039445C>A	VUS	1 lab	6c3107a336
1:203014673 PPFIA4 C>T	1	203014673	203014673	C	T	PPFIA4	c.844C>T	NM_001304331.1	NP_001291260.1:p.(Arg282Trp)	NC_000001.10:g.203014673C>T	VUS	1 lab	6c320447f0
10:55581868 PCDH15 G>C	10	55581868	55581868	G	C	PCDH15	c.5639C>G	NM_001142763.1	NP_001136235.1:p.(Thr1880Arg)	NC_000010.10:g.55581868G>C	VUS	1 lab	6c3232818c
17:42430057 GRN G>A	17	42430057	42430057	G	A	GRN	c.1673G>A	NM_002087.4	NP_002078.1:p.(Cys558Tyr)	NC_000017.10:g.42430057G>A	VUS	1 lab	f5e09d161a
12:56398223 SUOX T>C	12	56398223	56398223	T	C	SUOX	c.1050T>C	NM_000456.2	NP_000447.2:p.(Tyr350=)	NC_000012.11:g.56398223T>C	(Likely) benign	1 lab	6c33a1dbb6
1:12328814 VPS13D C>T	1	12328814	12328814	C	T	VPS13D	c.1853C>T	NM_015378.4	NP_056193.2:p.(Ala618Val)	NC_000001.10:g.12328814C>T	(Likely) benign	1 lab	6c354ae163
4:13545684 NKX3-2 C>G	4	13545684	13545684	C	G	NKX3-2	c.355G>C	NM_001189.3	NP_001180.1:p.(Ala119Pro)	NC_000004.11:g.13545684C>G	(Likely) benign	1 lab	6c364bcfd1
14:23859294 MYH6 G>A	14	23859294	23859294	G	A	MYH6	c.3704C>T	NM_002471.3	NP_002462.2:p.(Ser1235Phe)	NC_000014.8:g.23859294G>A	VUS	1 lab	6c37bfdaf4
19:45855905 ERCC2 C>T	19	45855905	45855905	C	T	ERCC2	c.1905G>A	NM_000400.3	NP_000391.1:p.(Ala635=)	NC_000019.9:g.45855905C>T	(Likely) benign	1 lab	6c3b24cdbd
21:46913517 COL18A1 A>G	21	46913517	46913517	A	G	COL18A1	c.2352+28A>G	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46913517A>G	(Likely) benign	1 lab	6c3de1f32f
21:46930147 COL18A1 G>A	21	46930147	46930147	G	A	COL18A1	c.4196G>A	NM_030582.4	NP_085059.2:p.(Arg1399His)	NC_000021.8:g.46930147G>A	VUS	1 lab	6c3e62391a
3:49714238 APEH G>C	3	49714238	49714238	G	C	APEH	c.865G>C	NM_001640.3	NP_001631.3:p.(Gly289Arg)	NC_000003.11:g.49714238G>C	VUS	1 lab	6c405a72b4
1:38079875 RSPO1 G>C	1	38079875	38079875	G	C	RSPO1	c.417C>G	NM_001038633.3	NP_001033722.1:p.(Thr139=)	NC_000001.10:g.38079875G>C	(Likely) benign	1 lab	6c4175165d
1:196695910 CFH A>G	1	196695910	196695910	A	G	CFH	c.2076A>G	NM_000186.3	NP_000177.2:p.(Gly692=)	NC_000001.10:g.196695910A>G	(Likely) benign	1 lab	6c4268cb50
9:136582508 SARDH C>T	9	136582508	136582508	C	T	SARDH	c.1090G>A	NM_007101.3	NP_009032.2:p.(Ala364Thr)	NC_000009.11:g.136582508C>T	VUS	1 lab	6c430ba4e6
16:70923597 HYDIN C>T	16	70923597	70923597	C	T	HYDIN	c.9667G>A	NM_001270974.2	NP_001257903.1:p.(Val3223Ile)	NC_000016.9:g.70923597C>T	(Likely) benign	1 lab	6c431859c4
11:62383978 B3GAT3 C>T	11	62383978	62383978	C	T	B3GAT3	c.909G>A	NM_001288723.1	NP_001275652.1:p.(Arg303=)	NC_000011.9:g.62383978C>T	(Likely) benign	1 lab	6c433ccb9a
X:53574971 HUWE1 C>T	X	53574971	53574971	C	T	HUWE1	c.10299G>A	NM_031407.6	NP_113584.3:p.(Gln3433=)	NC_000023.10:g.53574971C>T	(Likely) benign	1 lab	6c439382b3
11:6661896 DCHS1 C>T	11	6661896	6661896	C	T	DCHS1				NC_000011.9:g.6661896C>T	VUS	1 lab	6c439877cd
2:179393893 TTN T>G	2	179393893	179393893	T	G	TTN	c.106585A>C	NM_001267550.1	NP_001254479.1:p.(Thr35529Pro)	NC_000002.11:g.179393893T>G	VUS	1 lab	6c43a46766
2:121685009 GLI2 A>G	2	121685009	121685009	A	G	GLI2	c.221A>G	NM_005270.4	NP_005261.2:p.(His74Arg)	NC_000002.11:g.121685009A>G	VUS	1 lab	6c44cb9219
X:151870237 MAGEA6 G>C	X	151870237	151870237	G	C	MAGEA6	c.927G>C	NM_175868.2	NP_787064.1:p.(Leu309Phe)	NC_000023.10:g.151870237G>C	(Likely) benign	1 lab	6c46c66666
12:49415907 KMT2D G>A	12	49415907	49415907	G	A	KMT2D	c.16440C>T	NM_003482.3	NP_003473.3:p.(Asn5480=)	NC_000012.11:g.49415907G>A	(Likely) benign	1 lab	6c472af4d8
22:38120741 TRIOBP A>G	22	38120741	38120741	A	G	TRIOBP	c.2178A>G	NM_001039141.2	NP_001034230.1:p.(Arg726=)	NC_000022.10:g.38120741A>G	(Likely) benign	1 lab	6c47c8a06f
7:151873575 KMT2C T>A	7	151873575	151873575	T	A	KMT2C	c.8963A>T	NM_170606.2	NP_733751.2:p.(Gln2988Leu)	NC_000007.13:g.151873575T>A	(Likely) benign	1 lab	6c485dc673
13:23905418 SACS T>C	13	23905418	23905418	T	C	SACS	c.12597A>G	NM_014363.5	NP_055178.3:p.(Pro4199=)	NC_000013.10:g.23905418T>C	(Likely) benign	1 lab	6c490d39fd
19:2046390 MKNK2 C>T	19	2046390	2046390	C	T	MKNK2	c.217G>A	NM_199054.2	NP_951009.1:p.(Asp73Asn)	NC_000019.9:g.2046390C>T	VUS	1 lab	6c4bae9847
18:29118699 DSG2 C>T	18	29118699	29118699	C	T	DSG2	c.1652-15C>T	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29118699C>T	(Likely) benign	1 lab	6c4bdce2a7
21:31803053 KRTAP13-4 C>T	21	31803053	31803053	C	T	KRTAP13-4	c.460C>T	NM_181600.2	NP_853631.1:p.(Arg154Cys)	NC_000021.8:g.31803053C>T	VUS	1 lab	6c4efee973
16:71007311 HYDIN TG>T	16	71007311	71007314	TG	T	HYDIN	c.5313del	NM_001270974.2	NP_001257903.1:p.(Ile1772PhefsTer15)	NC_000016.9:g.71007314del	VUS	1 lab	6c4f3bdd70
18:29172917 TTR G>A	18	29172917	29172917	G	A	TTR	c.128G>A	NM_000371.4	NP_000362.1:p.(Ser43Asn)	NC_000018.9:g.29172917G>A	(Likely) pathogenic	1 lab	f5e2c153c5
11:88045668 CTSC A>G	11	88045668	88045668	A	G	CTSC	c.373T>C	NM_001814.4	NP_001805.3:p.(Trp125Arg)	NC_000011.9:g.88045668A>G	VUS	1 lab	6c4f887e7c
6:44108783 TMEM63B A>G	6	44108783	44108783	A	G	TMEM63B	c.730A>G	NM_001318792.1	NP_001305721.1:p.(Ile244Val)	NC_000006.11:g.44108783A>G	VUS	1 lab	6c4fd47ace
X:49099660 CCDC22 A>G	X	49099660	49099660	A	G	CCDC22	c.535+10A>G	NM_014008.4	NP_054727.1:p.?	NC_000023.10:g.49099660A>G	(Likely) benign	1 lab	6c502134ec
17:29654509 NF1 C>G	17	29654509	29654509	C	G	NF1	c.5206-8C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654509C>G	VUS	1 lab	6c510b3940
11:57569620 CTNND1 C>T	11	57569620	57569620	C	T	CTNND1	c.1372C>T	NM_001085458.1	NP_001078927.1:p.(Arg458Ter)	NC_000011.9:g.57569620C>T	(Likely) pathogenic	1 lab	6c5111c408
11:68201089 LRP5 G>A	11	68201089	68201089	G	A	LRP5	c.3783G>A	NM_002335.3	NP_002326.2:p.(Pro1261=)	NC_000011.9:g.68201089G>A	(Likely) benign	1 lab	6c51297b89
18:21124440 NPC1 G>A	18	21124440	21124440	G	A	NPC1	c.1998C>T	NM_000271.4	NP_000262.2:p.(Ser666=)	NC_000018.9:g.21124440G>A	(Likely) benign	1 lab	6c54590e33
1:198721437 PTPRC C>T	1	198721437	198721437	C	T	PTPRC	c.3267C>T	NM_002838.4	NP_002829.3:p.(Asp1089=)	NC_000001.10:g.198721437C>T	(Likely) benign	1 lab	6c54afd0a7
3:138091882 MRAS CATACGGAG>C	3	138091882	138091892	CATACGGAG	C	MRAS	c.160_167del	NM_001085049.3	NP_001078518.1:p.(Thr54Ter)	NC_000003.11:g.138091885_138091892del	VUS	1 lab	6c5631d79e
17:77073839 ENGASE C>T	17	77073839	77073839	C	T	ENGASE	c.309C>T	NM_001042573.2	NP_001036038.1:p.(Gly103=)	NC_000017.10:g.77073839C>T	(Likely) benign	1 lab	6c57d9aea6
18:43440239 EPG5 G>A	18	43440239	43440239	G	A	EPG5	c.6839C>T	NM_020964.3	NP_066015.2:p.(Ala2280Val)	NC_000018.9:g.43440239G>A	VUS	1 lab	6c5847df14
6:135709130 AHI1 T>C	6	135709130	135709130	T	C	AHI1	c.3151A>G	NM_001134832.1	NP_001128304.1:p.(Lys1051Glu)	NC_000006.11:g.135709130T>C	VUS	1 lab	6c586a6015
7:83095840 SEMA3E A>G	7	83095840	83095840	A	G	SEMA3E	c.414T>C	NM_012431.3	NP_036563.1:p.(Phe138=)	NC_000007.13:g.83095840A>G	(Likely) benign	1 lab	6c5a6b9879
9:98735161 ERCC6L2 C>T	9	98735161	98735161	C	T	ERCC6L2	c.3161C>T	NM_020207.4	NP_064592.2:p.(Ser1054Phe)	NC_000009.11:g.98735161C>T	VUS	1 lab	6c5ae43fdd
8:17133963 VPS37A C>A	8	17133963	17133963	C	A	VPS37A	c.700C>A	NM_152415.2	NP_689628.2:p.(Leu234Ile)	NC_000008.10:g.17133963C>A	VUS	1 lab	6c5d71a847
X:153216414 HCFC1 C>T	X	153216414	153216414	C	T	HCFC1	c.5553G>A	NM_005334.2	NP_005325.2:p.(Leu1851=)	NC_000023.10:g.153216414C>T	(Likely) benign	1 lab	6c5ed8d199
17:73096167 SLC16A5 C>T	17	73096167	73096167	C	T	SLC16A5	c.409C>T	NM_001271765.1	NP_001258694.1:p.(Arg137Trp)	NC_000017.10:g.73096167C>T	VUS	1 lab	6c5f2a8f6c
X:133922766 PABIR2 G>A	X	133922766	133922766	G	A	PABIR2	c.441C>T	NM_001331088.1	NP_001318017.1:p.(Phe147=)	NC_000023.10:g.133922766G>A	(Likely) benign	1 lab	6c5fe85aad
X:134713862 INTS6L G>A	X	134713862	134713862	G	A	INTS6L	c.2158G>A	NM_182540.5	NP_872346.3:p.(Asp720Asn)	NC_000023.10:g.134713862G>A	(Likely) benign	1 lab	6c611f8839
19:17007421 MISSING G>A	19	17007421	17007421	G	A	MISSING				NC_000019.9:g.17007421G>A	(Likely) benign	1 lab	6c6200e52f
9:139401802 NOTCH1 C>T	9	139401802	139401802	C	T	NOTCH1	c.3598G>A	NM_017617.5	NP_060087.3:p.(Asp1200Asn)	NC_000009.11:g.139401802C>T	VUS	1 lab	6c62493e47
13:86369650 SLITRK6 G>A	13	86369650	86369650	G	A	SLITRK6	c.994C>T	NM_032229.3	NP_115605.2:p.(Pro332Ser)	NC_000013.10:g.86369650G>A	VUS	1 lab	6c63c40e93
X:22094551 PHEX TAC>T	X	22094551	22094554	TAC	T	PHEX	c.397_398del	NM_000444.6	NP_000435.3:p.(Gln133GlufsTer12)	NC_000023.10:g.22094553_22094554del	(Likely) pathogenic	1 lab	f5e3530a3b
1:197069932 ASPM C>A	1	197069932	197069932	C	A	ASPM	c.8449G>T	NM_018136.4	NP_060606.3:p.(Ala2817Ser)	NC_000001.10:g.197069932C>A	(Likely) benign	1 lab	6c65502775
18:43464740 EPG5 C>T	18	43464740	43464740	C	T	EPG5	c.5146G>A	NM_020964.3	NP_066015.2:p.(Val1716Ile)	NC_000018.9:g.43464740C>T	(Likely) benign	1 lab	6c6706ab4f
14:102455042 DYNC1H1 T>C	14	102455042	102455042	T	C	DYNC1H1	c.2721T>C	NM_001376.4	NP_001367.2:p.(Ile907=)	NC_000014.8:g.102455042T>C	(Likely) benign	1 lab	6c6bf9862e
12:124364273 DNAH10 G>C	12	124364273	124364273	G	C	DNAH10	c.8205G>C	NM_207437.3	NP_997320.2:p.(Gln2735His)	NC_000012.11:g.124364273G>C	VUS	1 lab	6c6ca1fce9
6:170181516 ERMARD A>G	6	170181516	170181516	A	G	ERMARD	c.1944A>G	NM_018341.2	NP_060811.1:p.(Thr648=)	NC_000006.11:g.170181516A>G	(Likely) benign	1 lab	6c6cfc8dd9
19:2115373 AP3D1 G>A	19	2115373	2115373	G	A	AP3D1	c.2194C>T	NM_001261826.3	NP_001248755.1:p.(Arg732Trp)	NC_000019.9:g.2115373G>A	VUS	1 lab	6c6e9f5b6c
1:240371821 FMN2 C>G	1	240371821	240371821	C	G	FMN2	c.3709C>G	NM_020066.5	NP_064450.3:p.(Leu1237Val)	NC_000001.10:g.240371821C>G	(Likely) benign	1 lab	6c6f802e93
11:66619403 PC C>T	11	66619403	66619403	C	T	PC	c.1840G>A	NM_001040716.1	NP_001035806.1:p.(Val614Ile)	NC_000011.9:g.66619403C>T	VUS	1 lab	6c7434e4e6
11:17544449 USH1C G>A	11	17544449	17544449	G	A	USH1C	c.901C>T	NM_153676.3	NP_710142.1:p.(Arg301Trp)	NC_000011.9:g.17544449G>A	VUS	1 lab	6c754fb6e2
1:25648416 RHD A>G	1	25648416	25648416	A	G	RHD	c.1190A>G	NM_016124.4	NP_057208.2:p.(His397Arg)	NC_000001.10:g.25648416A>G	(Likely) benign	1 lab	6c75fec036
17:5463169 NLRP1 G>A	17	5463169	5463169	G	A	NLRP1	c.847C>T	NM_033004.4	NP_127497.1:p.(Leu283Phe)	NC_000017.10:g.5463169G>A	(Likely) benign	1 lab	6c781e8f77
19:45206917 CEACAM16 C>T	19	45206917	45206917	C	T	CEACAM16	c.336C>T	NM_001039213.4	NP_001034302.2:p.(Asn112=)	NC_000019.9:g.45206917C>T	(Likely) benign	1 lab	6c793f0cf2
20:60713311 PSMA7 G>A	20	60713311	60713311	G	A	PSMA7	c.507C>T	NM_002792.4	NP_002783.1:p.(Arg169=)	NC_000020.10:g.60713311G>A	(Likely) benign	1 lab	f5ee878aca
X:48121246 SSX1 C>T	X	48121246	48121246	C	T	SSX1	c.326C>T	NM_001278691.1	NP_001265620.1:p.(Pro109Leu)	NC_000023.10:g.48121246C>T	(Likely) benign	1 lab	6c7b479c89
1:160264338 COPA C>A	1	160264338	160264338	C	A	COPA	c.2639G>T	NM_001098398.2	NP_001091868.1:p.(Gly880Val)	NC_000001.10:g.160264338C>A	VUS	1 lab	6c7c145494
22:21133845 SERPIND1 T>C	22	21133845	21133845	T	C	SERPIND1	c.245T>C	NM_000185.3	NP_000176.2:p.(Leu82Pro)	NC_000022.10:g.21133845T>C	VUS	1 lab	6c7f6d654a
16:89599015 SPG7 C>T	16	89599015	89599015	C	T	SPG7	c.1295C>T	NM_003119.3	NP_003110.1:p.(Thr432Met)	NC_000016.9:g.89599015C>T	VUS	1 lab	6c818b7f9f
2:47601059 EPCAM C>T	2	47601059	47601059	C	T	EPCAM	c.297C>T	NM_002354.2	NP_002345.2:p.(Cys99=)	NC_000002.11:g.47601059C>T	(Likely) benign	1 lab	6c81aea3c0
15:67073783 SMAD6 CT>C	15	67073783	67073785	CT	C	SMAD6	c.1403del	NM_005585.5	NP_005576.3:p.(Phe468SerfsTer71)	NC_000015.9:g.67073785del	VUS	1 lab	f5efe8b74a
12:123874069 KMT5A C>G	12	123874069	123874069	C	G	KMT5A	c.100C>G	NM_020382.4	NP_065115.3:p.(Arg34Gly)	NC_000012.11:g.123874069C>G	VUS	1 lab	6c83cb93e4
7:103292210 RELN T>C	7	103292210	103292210	T	C	RELN	c.1790A>G	NM_173054.2	NP_774959.1:p.(His597Arg)	NC_000007.13:g.103292210T>C	VUS	1 lab	6c858a500f
X:66905837 AR T>G	X	66905837	66905837	T	G	AR	c.1769-15T>G	NM_000044.4	NP_000035.2:p.?	NC_000023.10:g.66905837T>G	(Likely) benign	1 lab	6c85a307de
2:179580332 TTN C>A	2	179580332	179580332	C	A	TTN	c.25809G>T	NM_001267550.2	NP_001254479.2:p.(Ser8603=)	NC_000002.11:g.179580332C>A	(Likely) benign	1 lab	f5efeeee54
19:38799431 YIF1B C>T	19	38799431	38799431	C	T	YIF1B	c.530+1G>A	NM_001145463.1	NP_001138935.1:p.?	NC_000019.9:g.38799431C>T	VUS	1 lab	6c8709eb32
6:102247673 GRIK2 T>C	6	102247673	102247673	T	C	GRIK2	c.1095+7T>C	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102247673T>C	(Likely) benign	1 lab	f5f0cdd3dc
16:2816033 SRRM2 C>T	16	2816033	2816033	C	T	SRRM2	c.5504C>T	NM_016333.4	NP_057417.3:p.(Ser1835Phe)	NC_000016.9:g.2816033C>T	VUS	1 lab	f5f3aa3d8d
2:97465384 CNNM4 C>T	2	97465384	97465384	C	T	CNNM4	c.1947C>T	NM_020184.3	NP_064569.3:p.(Ser649=)	NC_000002.11:g.97465384C>T	(Likely) benign	1 lab	6c89fcd1a6
11:93913270 PANX1 G>A	11	93913270	93913270	G	A	PANX1	c.1048G>A	NM_015368.3	NP_056183.2:p.(Val350Ile)	NC_000011.9:g.93913270G>A	VUS	1 lab	6c8a489324
18:43496018 EPG5 T>C	18	43496018	43496018	T	C	EPG5	c.3538A>G	NM_020964.3	NP_066015.2:p.(Met1180Val)	NC_000018.9:g.43496018T>C	(Likely) benign	1 lab	6c8abf9928
7:91842611 KRIT1 TG>T	7	91842611	91842612	TG	T	KRIT1	c.1922del	NM_194454.3	NP_919436.1:p.(Thr641LysfsTer20)	NC_000007.13:g.91842612del	(Likely) pathogenic	1 lab	6c8e141c92
8:31497846 NRG1 G>A	8	31497846	31497846	G	A	NRG1	c.346G>A	NM_013962.2	NP_039256.2:p.(Glu116Lys)	NC_000008.10:g.31497846G>A	(Likely) benign	1 lab	6c8e7ea6e9
19:14029616 CC2D1A C>T	19	14029616	14029616	C	T	CC2D1A	c.1004C>T	NM_017721.4	NP_060191.3:p.(Ala335Val)	NC_000019.9:g.14029616C>T	VUS	1 lab	6c8f3c7f93
7:35280345 TBX20 T>TA	7	35280345	35280346	T	TA	TBX20	c.813+145dup	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35280346dup	(Likely) benign	1 lab	6c9065bba7
8:38883316 ADAM9 A>G	8	38883316	38883316	A	G	ADAM9	c.915-6A>G	NM_003816.2	NP_003807.1:p.?	NC_000008.10:g.38883316A>G	(Likely) benign	1 lab	6c9155a39d
3:38622444 SCN5A G>A	3	38622444	38622444	G	A	SCN5A	c.3206C>T	NM_001099404.1	NP_001092874.1:p.(Thr1069Met)	NC_000003.11:g.38622444G>A	(Likely) benign	1 lab	6c91b10690
9:135781441 TSC1 G>C	9	135781441	135781441	G	C	TSC1	c.1524C>G	NM_000368.4	NP_000359.1:p.(Tyr508Ter)	NC_000009.11:g.135781441G>C	(Likely) pathogenic	1 lab	6c91ce19c4
20:60937488 LAMA5 T>G	20	60937488	60937488	T	G	LAMA5	c.418A>C	NM_005560.4	NP_005551.3:p.(Asn140His)	NC_000020.10:g.60937488T>G	VUS	1 lab	6c91f8bb58
19:36215624 KMT2B C>T	19	36215624	36215624	C	T	KMT2B	c.3421C>T	NM_014727.2	NP_055542.1:p.(Leu1141=)	NC_000019.9:g.36215624C>T	(Likely) benign	1 lab	6c92b47300
1:196697486 CFH A>G	1	196697486	196697486	A	G	CFH	c.2247A>G	NM_000186.3	NP_000177.2:p.(Lys749=)	NC_000001.10:g.196697486A>G	(Likely) benign	1 lab	6c9582c811
1:42922717 PPCS G>A	1	42922717	42922717	G	A	PPCS	c.481G>A	NM_024664.4	NP_078940.2:p.(Ala161Thr)	NC_000001.10:g.42922717G>A	VUS	1 lab	6c95e6499f
6:31599411 PRRC2A C>G	6	31599411	31599411	C	G	PRRC2A	c.2961C>G	NM_004638.3	NP_004629.3:p.(Thr987=)	NC_000006.11:g.31599411C>G	(Likely) benign	1 lab	6ca6d11cb6
21:46906858 COL18A1 C>CCCCCCTGGG	21	46906858	46906881	C	CCCCCCTGGG	COL18A1	c.2340_2348dup	NM_030582.4	NP_085059.2:p.(Pro783_Pro785dup)	NC_000021.8:g.46906873_46906881dup	(Likely) benign	1 lab	6c96647998
1:109461330 GPSM2 A>G	1	109461330	109461330	A	G	GPSM2	c.1359A>G	NM_013296.5	NP_037428.3:p.(Lys453=)	NC_000001.10:g.109461330A>G	(Likely) benign	1 lab	6c973cc9f9
10:89685281 PTEN C>G	10	89685281	89685281	C	G	PTEN	c.176C>G	NM_000314.4	NP_000305.3:p.(Ser59Ter)	NC_000010.10:g.89685281C>G	(Likely) pathogenic	1 lab	6c983161f8
14:79117576 NRXN3 C>A	14	79117576	79117576	C	A	NRXN3	c.1128C>A	NM_001330195.1	NP_001317124.1:p.(Gly376=)	NC_000014.8:g.79117576C>A	(Likely) benign	1 lab	6c99077708
X:147019028 FMR1 T>C	X	147019028	147019028	T	C	FMR1	c.1034T>C	NM_002024.5	NP_002015.1:p.(Val345Ala)	NC_000023.10:g.147019028T>C	(Likely) benign	1 lab	6c9bdd9304
16:347719 AXIN1 C>G	16	347719	347719	C	G	AXIN1	c.1784+3G>C	NM_003502.3	NP_003493.1:p.?	NC_000016.9:g.347719C>G	VUS	1 lab	6c9c4da3ae
X:153217152 HCFC1 G>A	X	153217152	153217152	G	A	HCFC1	c.5267C>T	NM_005334.3	NP_005325.2:p.(Ala1756Val)	NC_000023.10:g.153217152G>A	VUS	1 lab	f5f447c4b4
12:98927984 TMPO G>A	12	98927984	98927984	G	A	TMPO	c.1949G>A	NM_003276.2	NP_003267.1:p.(Arg650His)	NC_000012.11:g.98927984G>A	(Likely) benign	1 lab	6ca248133d
21:34726003 IFNAR1 T>C	21	34726003	34726003	T	C	IFNAR1	c.1354T>C	NM_000629.3	NP_000620.2:p.(Phe452Leu)	NC_000021.8:g.34726003T>C	VUS	1 lab	6ca3825958
3:100963586 IMPG2 G>T	3	100963586	100963586	G	T	IMPG2	c.1589C>A	NM_016247.3	NP_057331.2:p.(Ser530Ter)	NC_000003.11:g.100963586G>T	(Likely) pathogenic	1 lab	6ca384439e
X:148037162 AFF2 A>G	X	148037162	148037162	A	G	AFF2	c.1587A>G	NM_002025.3	NP_002016.2:p.(Gln529=)	NC_000023.10:g.148037162A>G	(Likely) benign	1 lab	6ca7489cd1
1:235884194 LYST A>T	1	235884194	235884194	A	T	LYST	c.9327T>A	NM_001301365.1	NP_001288294.1:p.(Asp3109Glu)	NC_000001.10:g.235884194A>T	VUS	1 lab	6ca80f6aaf
X:134494824 ZNF449 G>A	X	134494824	134494824	G	A	ZNF449	c.1380G>A	NM_152695.5	NP_689908.3:p.(Glu460=)	NC_000023.10:g.134494824G>A	(Likely) benign	1 lab	6ca908b37e
19:39989843 DLL3 TG>T	19	39989843	39989845	TG	T	DLL3	c.83del	NM_203486.3	NP_982353.1:p.(Gly28AlafsTer37)	NC_000019.9:g.39989845del	(Likely) pathogenic	1 lab	6cad7ffc2e
19:12775684 MAN2B1 G>T	19	12775684	12775684	G	T	MAN2B1	c.552C>A	NM_000528.3	NP_000519.2:p.(Gly184=)	NC_000019.9:g.12775684G>T	(Likely) benign	1 lab	6cadae0c10
1:103354183 COL11A1 G>T	1	103354183	103354183	G	T	COL11A1	c.4594C>A	NM_080629.2	NP_542196.2:p.(Pro1532Thr)	NC_000001.10:g.103354183G>T	VUS	1 lab	6caf2a9b45
4:1902922 NSD2 C>T	4	1902922	1902922	C	T	NSD2	c.541C>T	NM_133334.2	NP_579889.1:p.(Gln181Ter)	NC_000004.11:g.1902922C>T	VUS	1 lab	6cb2f86602
X:152826267 ATP2B3 C>T	X	152826267	152826267	C	T	ATP2B3	c.2973C>T	NM_021949.3	NP_068768.2:p.(His991=)	NC_000023.10:g.152826267C>T	(Likely) benign	1 lab	6cb4dd7957
3:193332508 OPA1 T>G	3	193332508	193332508	T	G	OPA1	c.33-4T>G	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193332508T>G	(Likely) benign	1 lab	6cb5827fed
16:50741844 NOD2 C>G	16	50741844	50741844	C	G	NOD2	c.619C>G	NM_022162.3	NP_071445.1:p.(Pro207Ala)	NC_000016.9:g.50741844C>G	VUS	1 lab	f5f66e6c2e
2:179522297 TTN G>GA	2	179522297	179522298	G	GA	TTN	c.37965dup	NM_001267550.2	NP_001254479.2:p.(Pro12656SerfsTer7)	NC_000002.11:g.179522298dup	VUS	1 lab	f5f80e8a75
11:47303945 MADD C>T	11	47303945	47303945	C	T	MADD	c.1483C>T	NM_003682.3	NP_003673.3:p.(Arg495Trp)	NC_000011.9:g.47303945C>T	VUS	1 lab	6cb799c48e
6:43618165 RSPH9 C>T	6	43618165	43618165	C	T	RSPH9	c.281C>T	NM_001193341.1	NP_001180270.1:p.(Ala94Val)	NC_000006.11:g.43618165C>T	(Likely) benign	1 lab	6cb83b44a5
5:138378368 SIL1 T>G	5	138378368	138378368	T	G	SIL1	c.394A>C	NM_001037633.1	NP_001032722.1:p.(Lys132Gln)	NC_000005.9:g.138378368T>G	(Likely) benign	1 lab	6cb97c386d
X:100117758 NOX1 C>T	X	100117758	100117758	C	T	NOX1	c.389G>A	NM_007052.4	NP_008983.2:p.(Arg130Gln)	NC_000023.10:g.100117758C>T	(Likely) benign	1 lab	6cb9a58d6f
4:184626187 TRAPPC11 G>A	4	184626187	184626187	G	A	TRAPPC11	c.3019G>A	NM_021942.5	NP_068761.4:p.(Val1007Met)	NC_000004.11:g.184626187G>A	(Likely) benign	1 lab	6cba57584e
1:216258094 USH2A T>A	1	216258094	216258094	T	A	USH2A	c.5113A>T	NM_206933.2	NP_996816.2:p.(Ser1705Cys)	NC_000001.10:g.216258094T>A	VUS	1 lab	6cbb26b734
19:45856578 ERCC2 G>A	19	45856578	45856578	G	A	ERCC2	c.1680C>T	NM_000400.3	NP_000391.1:p.(Asn560=)	NC_000019.9:g.45856578G>A	(Likely) benign	1 lab	6cbecb2f57
17:79477812 ACTG1 G>A	17	79477812	79477812	G	A	ACTG1	c.1032C>T	NM_001199954.2	NP_001186883.1:p.(Ser344=)	NC_000017.10:g.79477812G>A	(Likely) benign	1 lab	6cc3d8460f
1:109444491 GPSM2 A>G	1	109444491	109444491	A	G	GPSM2	c.877A>G	NM_001321039.1	NP_001307968.1:p.(Thr293Ala)	NC_000001.10:g.109444491A>G	VUS	1 lab	6cc4cfe4b3
5:140071240 HARS2 C>G	5	140071240	140071240	C	G	HARS2	c.7C>G	NM_012208.3	NP_036340.1:p.(Leu3Val)	NC_000005.9:g.140071240C>G	(Likely) benign	1 lab	6cc5448198
11:32456298 WT1 G>A	11	32456298	32456298	G	A	WT1				NC_000011.9:g.32456298G>A	(Likely) benign	1 lab	6cc55d22fc
1:152084423 TCHH G>C	1	152084423	152084423	G	C	TCHH	c.1270C>G	NM_007113.3	NP_009044.2:p.(Gln424Glu)	NC_000001.10:g.152084423G>C	(Likely) benign	1 lab	6cc5926727
12:15793670 EPS8 C>A	12	15793670	15793670	C	A	EPS8	c.1788G>T	NM_004447.5	NP_004438.3:p.(Gly596=)	NC_000012.11:g.15793670C>A	(Likely) benign	1 lab	6cc63be74c
17:76490682 DNAH17 A>C	17	76490682	76490682	A	C	DNAH17	c.6263T>G	NM_173628.3	NP_775899.3:p.(Phe2088Cys)	NC_000017.10:g.76490682A>C	VUS	1 lab	6cc8065cd7
18:42530553 SETBP1 T>C	18	42530553	42530553	T	C	SETBP1	c.1248T>C	NM_015559.3	NP_056374.2:p.(His416=)	NC_000018.9:g.42530553T>C	(Likely) benign	1 lab	6cc80f3f8d
X:70348519 MED12 C>G	X	70348519	70348519	C	G	MED12	c.3426C>G	NM_005120.2	NP_005111.2:p.(Leu1142=)	NC_000023.10:g.70348519C>G	(Likely) benign	1 lab	6cc8a649e6
13:26133886 ATP8A2 G>A	13	26133886	26133886	G	A	ATP8A2	c.1380G>A	NM_016529.5	NP_057613.4:p.(Pro460=)	NC_000013.10:g.26133886G>A	(Likely) benign	1 lab	6cca3cc564
16:3656471 SLX4 A>G	16	3656471	3656471	A	G	SLX4	c.760+4T>C	NM_032444.2	NP_115820.2:p.?	NC_000016.9:g.3656471A>G	(Likely) benign	1 lab	6ccaaf27d7
16:1413084 GNPTG A>G	16	1413084	1413084	A	G	GNPTG	c.910A>G	NM_032520.4	NP_115909.1:p.(Ser304Gly)	NC_000016.9:g.1413084A>G	(Likely) benign	1 lab	6ccb006b6a
6:44275059 AARS2 C>T	6	44275059	44275059	C	T	AARS2	c.967G>A	NM_020745.3	NP_065796.1:p.(Val323Met)	NC_000006.11:g.44275059C>T	VUS	1 lab	6ccd0d6e77
1:16259237 SPEN C>T	1	16259237	16259237	C	T	SPEN	c.6502C>T	NM_015001.3	NP_055816.2:p.(Gln2168Ter)	NC_000001.10:g.16259237C>T	(Likely) pathogenic	1 lab	f5faaac59e
1:85488011 MCOLN3 G>A	1	85488011	85488011	G	A	MCOLN3	c.1168C>T	NM_018298.11	NP_060768.8:p.(Arg390Ter)	NC_000001.10:g.85488011G>A	VUS	1 lab	6ccebd2547
6:69666011 ADGRB3 G>T	6	69666011	69666011	G	T	ADGRB3	c.1291G>T	NM_001704.3	NP_001695.2:p.(Ala431Ser)	NC_000006.11:g.69666011G>T	VUS	1 lab	6ccf44fc2d
19:7621371 PNPLA6 C>T	19	7621371	7621371	C	T	PNPLA6	c.3156C>T	NM_001166111.1	NP_001159583.1:p.(Asp1052=)	NC_000019.9:g.7621371C>T	(Likely) benign	1 lab	6cd1485cf2
X:68049714 EFNB1 TG>T	X	68049714	68049716	TG	T	EFNB1	c.97del	NM_004429.5	NP_004420.1:p.(Glu33SerfsTer13)	NC_000023.10:g.68049716del	(Likely) pathogenic	1 lab	6cd2c8044d
X:8767024 FAM9A G>C	X	8767024	8767024	G	C	FAM9A	c.203C>G	NM_001171186.1	NP_001164657.1:p.(Pro68Arg)	NC_000023.10:g.8767024G>C	VUS	1 lab	6cd2d29dda
X:37658269 CYBB C>A	X	37658269	37658269	C	A	CYBB	c.736C>A	NM_000397.3	NP_000388.2:p.(Gln246Lys)	NC_000023.10:g.37658269C>A	(Likely) benign	1 lab	6cd3c96fa4
2:179636164 TTN G>A	2	179636164	179636164	G	A	TTN	c.7890C>T	NM_001267550.1	NP_001254479.1:p.(Thr2630=)	NC_000002.11:g.179636164G>A	(Likely) benign	1 lab	6cd3dd3fbf
16:2126516 TSC2 TCT>CC	16	2126516	2126518	TCT	CC	TSC2	c.2767_2769delinsCC	NM_000548.3	NP_000539.2:p.(Ser923ProfsTer25)	NC_000016.9:g.2126516_2126518delinsCC	(Likely) pathogenic	1 lab	6cd41835ba
5:89943538 ADGRV1 G>A	5	89943538	89943538	G	A	ADGRV1	c.3246G>A	NM_032119.4	NP_115495.3:p.(Pro1082=)	NC_000005.9:g.89943538G>A	(Likely) benign	1 lab	6cd479a8d2
10:112540711 RBM20 C>T	10	112540711	112540711	C	T	RBM20	c.344C>T	NM_001134363.1	NP_001127835.1:p.(Ala115Val)	NC_000010.10:g.112540711C>T	VUS	1 lab	6cd4edf022
9:98002989 FANCC C>A	9	98002989	98002989	C	A	FANCC	c.287G>T	NM_000136.2	NP_000127.2:p.(Cys96Phe)	NC_000009.11:g.98002989C>A	VUS	1 lab	6cd5475444
3:46751073 TMIE T>G	3	46751073	46751073	T	G	TMIE	c.366T>G	NM_147196.2	NP_671729.2:p.(Asp122Glu)	NC_000003.11:g.46751073T>G	(Likely) benign	1 lab	6cd566ec38
1:55472911 BSND G>A	1	55472911	55472911	G	A	BSND	c.514G>A	NM_057176.3	NP_476517.1:p.(Glu172Lys)	NC_000001.10:g.55472911G>A	VUS	1 lab	6cd60a9dae
2:32312597 SPAST A>C	2	32312597	32312597	A	C	SPAST	c.452A>C	NM_014946.4	NP_055761.2:p.(Lys151Thr)	NC_000002.11:g.32312597A>C	VUS	1 lab	f5fb2f9491
18:56939841 RAX G>T	18	56939841	56939841	G	T	RAX	c.295C>A	NM_013435.2	NP_038463.2:p.(Arg99=)	NC_000018.9:g.56939841G>T	(Likely) benign	1 lab	6cd618b413
9:17416042 CNTLN C>T	9	17416042	17416042	C	T	CNTLN	c.2969C>T	NM_017738.4	NP_060208.2:p.(Ser990Phe)	NC_000009.11:g.17416042C>T	VUS	1 lab	6cd6598e0f
8:61757453 CHD7 C>T	8	61757453	61757453	C	T	CHD7				NC_000008.10:g.61757453C>T	(Likely) benign	1 lab	6cd6d76431
10:97444373 TCTN3 A>C	10	97444373	97444373	A	C	TCTN3	c.978T>G	NM_015631.5	NP_056446.4:p.(Tyr326Ter)	NC_000010.10:g.97444373A>C	(Likely) pathogenic	1 lab	6cd8bc5fac
X:107415766 COL4A6 C>T	X	107415766	107415766	C	T	COL4A6	c.3190-4G>A	NM_001287758.1	NP_001274687.1:p.?	NC_000023.10:g.107415766C>T	(Likely) benign	1 lab	6cd950c828
7:70254770 AUTS2 A>G	7	70254770	70254770	A	G	AUTS2	c.2496A>G	NM_001127231.2	NP_001120703.1:p.(Ser832=)	NC_000007.13:g.70254770A>G	(Likely) benign	1 lab	6cda8ded1b
19:45857984 ERCC2 G>A	19	45857984	45857984	G	A	ERCC2	c.1665+4C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45857984G>A	(Likely) benign	1 lab	6cdb2073b3
1:33479011 AK2 C>A	1	33479011	33479011	C	A	AK2				NC_000001.10:g.33479011C>A	(Likely) benign	1 lab	6cdc01dfdc
8:144999086 PLEC G>A	8	144999086	144999086	G	A	PLEC	c.5422C>T	NM_201380.3	NP_958782.1:p.(Arg1808Cys)	NC_000008.10:g.144999086G>A	VUS	1 lab	6cdcb53794
15:65369196 KBTBD13 G>A	15	65369196	65369196	G	A	KBTBD13	c.43G>A	NM_001101362.2	NP_001094832.1:p.(Gly15Ser)	NC_000015.9:g.65369196G>A	(Likely) benign	1 lab	6cdcee5951
20:30946654 ASXL1 G>A	20	30946654	30946654	G	A	ASXL1	c.57+19G>A	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.30946654G>A	(Likely) benign	1 lab	6cdd4dd0d9
X:23803489 SAT1 C>T	X	23803489	23803489	C	T	SAT1	c.247C>T	NM_002970.3	NP_002961.1:p.(Pro83Ser)	NC_000023.10:g.23803489C>T	VUS	1 lab	6cdd5fa3d5
22:21213394 SNAP29 G>A	22	21213394	21213394	G	A	SNAP29	c.-5G>A	NM_004782.3	NP_004773.1:p.?	NC_000022.10:g.21213394G>A	(Likely) benign	1 lab	6dce8c4da2
9:137698068 COL5A1 G>A	9	137698068	137698068	G	A	COL5A1	c.3292G>A	NM_000093.4	NP_000084.3:p.(Ala1098Thr)	NC_000009.11:g.137698068G>A	VUS	1 lab	6cddbfc61f
X:70389324 NLGN3 T>C	X	70389324	70389324	T	C	NLGN3	c.1864T>C	NM_018977.4	NP_061850.2:p.(Ser622Pro)	NC_000023.10:g.70389324T>C	VUS	1 lab	f5fb4153b4
18:6964778 LAMA1 T>C	18	6964778	6964778	T	C	LAMA1	c.7220A>G	NM_005559.3	NP_005550.2:p.(Tyr2407Cys)	NC_000018.9:g.6964778T>C	VUS	1 lab	6ce3e27103
17:72306240 DNAI2 C>T	17	72306240	72306240	C	T	DNAI2	c.1432C>T	NM_001353167.1	NP_001340096.1:p.(Leu478=)	NC_000017.10:g.72306240C>T	(Likely) benign	1 lab	6ce586bb71
4:103790253 CISD2 G>A	4	103790253	103790253	G	A	CISD2	c.12G>A	NM_001008388.5	NP_001008389.1:p.(Glu4=)	NC_000004.11:g.103790253G>A	(Likely) benign	1 lab	6ce5fe866f
20:47567971 ARFGEF2 C>T	20	47567971	47567971	C	T	ARFGEF2	c.388C>T	NM_006420.2	NP_006411.2:p.(Gln130Ter)	NC_000020.10:g.47567971C>T	(Likely) pathogenic	1 lab	6ce91cacd6
4:42024905 SLC30A9 C>T	4	42024905	42024905	C	T	SLC30A9	c.485C>T	NM_006345.4	NP_006336.3:p.(Thr162Ile)	NC_000004.11:g.42024905C>T	VUS	1 lab	6cebd93d75
11:6653272 DCHS1 G>A	11	6653272	6653272	G	A	DCHS1				NC_000011.9:g.6653272G>A	(Likely) benign	1 lab	6cee3f4a93
7:151875034 KMT2C G>C	7	151875034	151875034	G	C	KMT2C	c.7504C>G	NM_170606.2	NP_733751.2:p.(Pro2502Ala)	NC_000007.13:g.151875034G>C	VUS	1 lab	6ceec254b8
6:138566720 ARFGEF3 C>T	6	138566720	138566720	C	T	ARFGEF3	c.657C>T	NM_020340.5	NP_065073.3:p.(Ala219=)	NC_000006.11:g.138566720C>T	(Likely) benign	1 lab	6cefbde3eb
11:1248074 MUC5B G>T	11	1248074	1248074	G	T	MUC5B	c.429G>T	NM_002458.2	NP_002449.2:p.(Ala143=)	NC_000011.9:g.1248074G>T	(Likely) benign	1 lab	6ceff303e0
X:5827086 NLGN4X C>A	X	5827086	5827086	C	A	NLGN4X	c.811+9G>T	NM_001282145.1	NP_001269074.1:p.?	NC_000023.10:g.5827086C>A	(Likely) benign	1 lab	6cf0df1d80
11:17662616 OTOG T>C	11	17662616	17662616	T	C	OTOG	c.8204T>C	NM_001277269.1	NP_001264198.1:p.(Leu2735Pro)	NC_000011.9:g.17662616T>C	(Likely) benign	1 lab	6cf1dc3f3a
19:50826229 KCNC3 C>T	19	50826229	50826229	C	T	KCNC3	c.1978+3G>A	NM_004977.2	NP_004968.2:p.?	NC_000019.9:g.50826229C>T	(Likely) benign	1 lab	6cf2ca709d
14:53529923 DDHD1 G>C	14	53529923	53529923	G	C	DDHD1	c.1504C>G	NM_001160148.1	NP_001153620.1:p.(Leu502Val)	NC_000014.8:g.53529923G>C	VUS	1 lab	6cf2d1e1a2
X:153609544 EMD G>T	X	153609544	153609544	G	T	EMD	c.752G>T	NM_000117.2	NP_000108.1:p.(Gly251Val)	NC_000023.10:g.153609544G>T	VUS	1 lab	6cf39cf14c
9:133945234 LAMC3 G>A	9	133945234	133945234	G	A	LAMC3	c.3066G>A	NM_006059.3	NP_006050.3:p.(Glu1022=)	NC_000009.11:g.133945234G>A	(Likely) benign	1 lab	6cf3c114f7
15:85401689 ALPK3 C>T	15	85401689	85401689	C	T	ALPK3	c.4326C>T	NM_020778.4	NP_065829.3:p.(Pro1442=)	NC_000015.9:g.85401689C>T	(Likely) benign	1 lab	6cf75c6700
9:136293836 ADAMTS13 C>A	9	136293836	136293836	C	A	ADAMTS13	c.769C>A	NM_139025.4	NP_620594.1:p.(Arg257Ser)	NC_000009.11:g.136293836C>A	(Likely) benign	1 lab	6cf89631d1
16:70998792 HYDIN C>T	16	70998792	70998792	C	T	HYDIN	c.5627G>A	NM_001270974.2	NP_001257903.1:p.(Arg1876Gln)	NC_000016.9:g.70998792C>T	(Likely) benign	1 lab	6cf998d061
15:83331629 AP3B2 G>A	15	83331629	83331629	G	A	AP3B2	c.2650C>T	NM_001278512.1	NP_001265441.1:p.(Arg884Trp)	NC_000015.9:g.83331629G>A	VUS	1 lab	6cfc33689d
11:124266625 OR8B3 A>G	11	124266625	124266625	A	G	OR8B3	c.623T>C	NM_001005467.1	NP_001005467.1:p.(Met208Thr)	NC_000011.9:g.124266625A>G	(Likely) benign	1 lab	6cfd4d2bd8
17:61568310 ACE T>C	17	61568310	61568310	T	C	ACE	c.2642-5T>C	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61568310T>C	(Likely) benign	1 lab	f5fcefc2dd
10:70506975 CCAR1 T>C	10	70506975	70506975	T	C	CCAR1	c.531T>C	NM_001282959.1	NP_001269888.1:p.(Tyr177=)	NC_000010.10:g.70506975T>C	(Likely) benign	1 lab	6cff659d2c
5:78265041 ARSB A>G	5	78265041	78265041	A	G	ARSB	c.313-26T>C	NM_000046.4	NP_000037.2:p.?	NC_000005.9:g.78265041A>G	(Likely) benign	1 lab	6cffd6413f
1:43888460 SZT2 A>G	1	43888460	43888460	A	G	SZT2	c.1943A>G	NM_001365999.1	NP_001352928.1:p.(Asn648Ser)	NC_000001.10:g.43888460A>G	(Likely) benign	1 lab	6d00c12dbb
21:47808741 PCNT C>T	21	47808741	47808741	C	T	PCNT	c.3549C>T	NM_006031.5	NP_006022.3:p.(Ile1183=)	NC_000021.8:g.47808741C>T	(Likely) benign	1 lab	6d028056c3
16:3819262 CREBBP G>A	16	3819262	3819262	G	A	CREBBP	c.2973C>T	NM_004380.2	NP_004371.2:p.(Asp991=)	NC_000016.9:g.3819262G>A	(Likely) benign	1 lab	6d03c461ae
2:202508135 TMEM237 C>T	2	202508135	202508135	C	T	TMEM237	c.-12G>A	NM_001044385.2	NP_001037850.1:p.?	NC_000002.11:g.202508135C>T	(Likely) benign	1 lab	6d040ed3e9
16:84203733 DNAAF1 C>A	16	84203733	84203733	C	A	DNAAF1	c.1299C>A	NM_178452.5	NP_848547.4:p.(Asp433Glu)	NC_000016.9:g.84203733C>A	(Likely) benign	1 lab	6d0473aa08
X:47774595 ZNF81 C>G	X	47774595	47774595	C	G	ZNF81	c.550C>G	NM_007137.3	NP_009068.2:p.(Leu184Val)	NC_000023.10:g.47774595C>G	(Likely) benign	1 lab	6d053f0c43
12:88530518 CEP290 T>C	12	88530518	88530518	T	C	CEP290	c.343A>G	NM_025114.3	NP_079390.3:p.(Asn115Asp)	NC_000012.11:g.88530518T>C	(Likely) benign	1 lab	6d075138bb
12:104031996 STAB2 C>A	12	104031996	104031996	C	A	STAB2	c.906+6C>A	NM_017564.10	NP_060034.9:p.?	NC_000012.11:g.104031996C>A	(Likely) benign	1 lab	f603bd74d8
6:158579367 SERAC1 C>G	6	158579367	158579367	C	G	SERAC1	c.29G>C	NM_032861.3	NP_116250.3:p.(Cys10Ser)	NC_000006.11:g.158579367C>G	VUS	1 lab	6d08cc992f
6:10626786 GCNT2 C>T	6	10626786	10626786	C	T	GCNT2	c.1149C>T	NM_001491.2	NP_001482.1:p.(Arg383=)	NC_000006.11:g.10626786C>T	(Likely) benign	1 lab	6d0a6b2712
2:179442384 TTN AC>A	2	179442384	179442386	AC	A	TTN	c.68768del	NM_001267550.2	NP_001254479.2:p.(Gly22923ValfsTer30)	NC_000002.11:g.179442386del	(Likely) pathogenic	1 lab	6d0b96b810
6:162683815 PRKN A>T	6	162683815	162683815	A	T	PRKN	c.172-18T>A	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.162683815A>T	(Likely) benign	1 lab	6d0c582e92
16:3831241 CREBBP G>A	16	3831241	3831241	G	A	CREBBP	c.1640C>T	NM_004380.2	NP_004371.2:p.(Ser547Leu)	NC_000016.9:g.3831241G>A	VUS	1 lab	6d0c6ee0dc
1:226109705 PYCR2 G>A	1	226109705	226109705	G	A	PYCR2	c.393C>T	NM_013328.3	NP_037460.2:p.(Gly131=)	NC_000001.10:g.226109705G>A	(Likely) benign	1 lab	6d0d43afb0
11:73796007 C2CD3 T>G	11	73796007	73796007	T	G	C2CD3	c.3919A>C	NM_001286577.1	NP_001273506.1:p.(Ile1307Leu)	NC_000011.9:g.73796007T>G	VUS	1 lab	6d0de824bc
1:235969712 LYST G>A	1	235969712	235969712	G	A	LYST	c.2724C>T	NM_001301365.1	NP_001288294.1:p.(Cys908=)	NC_000001.10:g.235969712G>A	(Likely) benign	1 lab	6d0eee3657
8:68030481 CSPP1 A>C	8	68030481	68030481	A	C	CSPP1	c.600-2A>C	NM_001291339.1	NP_001278268.1:p.?	NC_000008.10:g.68030481A>C	(Likely) pathogenic	1 lab	6d102bd50a
X:74644519 ZDHHC15 C>G	X	74644519	74644519	C	G	ZDHHC15	c.704G>C	NM_144969.2	NP_659406.1:p.(Cys235Ser)	NC_000023.10:g.74644519C>G	VUS	1 lab	6d10ea1dac
6:101109811 ASCC3 A>C	6	101109811	101109811	A	C	ASCC3	c.2574T>G	NM_006828.4	NP_006819.2:p.(Phe858Leu)	NC_000006.11:g.101109811A>C	VUS	1 lab	6d110fa4d3
5:128983484 ADAMTS19 C>A	5	128983484	128983484	C	A	ADAMTS19	c.1899C>A	NM_133638.4	NP_598377.4:p.(Ser633Arg)	NC_000005.9:g.128983484C>A	VUS	1 lab	6d11814de0
1:247607376 NLRP3 C>T	1	247607376	247607376	C	T	NLRP3	c.2766C>T	NM_001243133.1	NP_001230062.1:p.(Leu922=)	NC_000001.10:g.247607376C>T	(Likely) benign	1 lab	6d12e79047
9:133943484 LAMC3 G>A	9	133943484	133943484	G	A	LAMC3	c.2613G>A	NM_006059.3	NP_006050.3:p.(Gln871=)	NC_000009.11:g.133943484G>A	(Likely) benign	1 lab	6d12f466b5
11:68216309 LRP5 C>T	11	68216309	68216309	C	T	LRP5	c.2876C>T	NM_001291902.1	NP_001278831.1:p.(Thr959Met)	NC_000011.9:g.68216309C>T	(Likely) benign	1 lab	6d13c62e4c
3:10138069 FANCD2 T>G	3	10138069	10138069	T	G	FANCD2	c.4098T>G	NM_033084.6	NP_149075.2:p.(Leu1366=)	NC_000003.11:g.10138069T>G	(Likely) benign	1 lab	f607ccfcbc
5:89985807 ADGRV1 A>T	5	89985807	89985807	A	T	ADGRV1	c.6620A>T	NM_032119.4	NP_115495.3:p.(Asn2207Ile)	NC_000005.9:g.89985807A>T	VUS	1 lab	f60a764c23
4:151199090 LRBA G>A	4	151199090	151199090	G	A	LRBA	c.8398C>T	NM_001367550.1	NP_001354479.1:p.(Arg2800Trp)	NC_000004.11:g.151199090G>A	VUS	1 lab	6d1657bafe
X:41010251 USP9X C>T	X	41010251	41010251	C	T	USP9X	c.1704C>T	NM_001039590.2	NP_001034679.2:p.(Pro568=)	NC_000023.10:g.41010251C>T	(Likely) benign	1 lab	6d16979d5b
10:13330532 PHYH G>A	10	13330532	13330532	G	A	PHYH	c.206C>T	NM_001323080.1	NP_001310009.1:p.(Thr69Met)	NC_000010.10:g.13330532G>A	VUS	1 lab	6d16c67fb5
X:124454140 TEX13C C>T	X	124454140	124454140	C	T	TEX13C	c.172C>T	NM_001195272.2	NP_001182201.1:p.(Arg58Trp)	NC_000023.10:g.124454140C>T	(Likely) benign	1 lab	6d176c8a80
19:3590172 GIPC3 G>C	19	3590172	3590172	G	C	GIPC3	c.923G>C	NM_133261.2	NP_573568.1:p.(Arg308Thr)	NC_000019.9:g.3590172G>C	(Likely) benign	1 lab	6d18ced5d1
10:123276898 FGFR2 T>G	10	123276898	123276898	T	G	FGFR2	c.1019A>C	NM_000141.4	NP_000132.3:p.(Tyr340Ser)	NC_000010.10:g.123276898T>G	(Likely) pathogenic	1 lab	6d19217af1
1:39888392 MACF1 C>A	1	39888392	39888392	C	A	MACF1	c.9793-10C>A	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39888392C>A	(Likely) benign	1 lab	6d192ff704
4:126369747 FAT4 G>A	4	126369747	126369747	G	A	FAT4	c.7582G>A	NM_001291303.1	NP_001278232.1:p.(Gly2528Arg)	NC_000004.11:g.126369747G>A	VUS	1 lab	6d1aee9420
12:66850106 GRIP1 G>A	12	66850106	66850106	G	A	GRIP1	c.1043-762C>T	NM_021150.3	NP_066973.2:p.?	NC_000012.11:g.66850106G>A	(Likely) benign	1 lab	6d1c081802
4:119259366 PRSS12 A>G	4	119259366	119259366	A	G	PRSS12	c.606T>C	NM_003619.3	NP_003610.2:p.(Ser202=)	NC_000004.11:g.119259366A>G	(Likely) benign	1 lab	6d20925170
3:49166566 LAMB2 G>C	3	49166566	49166566	G	C	LAMB2	c.1618C>G	NM_002292.4	NP_002283.3:p.(Gln540Glu)	NC_000003.11:g.49166566G>C	VUS	1 lab	f60ddb8da5
X:154721305 TMLHE C>T	X	154721305	154721305	C	T	TMLHE	c.1157G>A	NM_018196.3	NP_060666.1:p.(Arg386His)	NC_000023.10:g.154721305C>T	VUS	1 lab	6d21cd9f3c
6:16326847 ATXN1 C>T	6	16326847	16326847	C	T	ATXN1	c.1695G>A	NM_000332.3	NP_000323.2:p.(Ala565=)	NC_000006.11:g.16326847C>T	(Likely) benign	1 lab	6d221adc64
12:333172 SLC6A13 T>A	12	333172	333172	T	A	SLC6A13	c.1297A>T	NM_016615.5	NP_057699.2:p.(Ile433Phe)	NC_000012.11:g.333172T>A	VUS	1 lab	6d22633cb2
3:122864417 PDIA5 A>G	3	122864417	122864417	A	G	PDIA5	c.959A>G	NM_006810.4	NP_006801.1:p.(Glu320Gly)	NC_000003.11:g.122864417A>G	(Likely) benign	1 lab	6d23637471
9:140657284 EHMT1 T>G	9	140657284	140657284	T	G	EHMT1	c.1659T>G	NM_001354611.1	NP_001341540.1:p.(Phe553Leu)	NC_000009.11:g.140657284T>G	(Likely) benign	1 lab	6d23862237
6:84895110 CEP162 T>G	6	84895110	84895110	T	G	CEP162	c.1458A>C	NM_014895.4	NP_055710.2:p.(Val486=)	NC_000006.11:g.84895110T>G	(Likely) benign	1 lab	6d243a1259
12:43887052 ADAMTS20 G>C	12	43887052	43887052	G	C	ADAMTS20	c.872C>G	NM_025003.4	NP_079279.3:p.(Ala291Gly)	NC_000012.11:g.43887052G>C	VUS	1 lab	6d253a6531
7:5567531 ACTB G>A	7	5567531	5567531	G	A	ACTB	c.985-9C>T	NM_001101.3	NP_001092.1:p.?	NC_000007.13:g.5567531G>A	(Likely) benign	1 lab	6d2641e07a
11:62414579 INTS5 G>A	11	62414579	62414579	G	A	INTS5	c.2973C>T	NM_030628.2	NP_085131.1:p.(Val991=)	NC_000011.9:g.62414579G>A	(Likely) benign	1 lab	6d264a8366
12:48375185 COL2A1 G>T	12	48375185	48375185	G	T	COL2A1	c.2410-6C>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48375185G>T	VUS	1 lab	6d268f32be
5:34935806 DNAJC21 G>C	5	34935806	34935806	G	C	DNAJC21	c.192-9G>C	NM_194283.3	NP_919259.3:p.?	NC_000005.9:g.34935806G>C	(Likely) benign	1 lab	6d278b4a26
20:42935289 FITM2 CA>C	20	42935289	42935292	CA	C	FITM2	c.764del	NM_001080472.4	NP_001073941.1:p.(Leu255Ter)	NC_000020.10:g.42935292del	VUS	1 lab	6d28848fcc
7:103207106 RELN G>A	7	103207106	103207106	G	A	RELN	c.4689C>T	NM_005045.3	NP_005036.2:p.(Asp1563=)	NC_000007.13:g.103207106G>A	(Likely) benign	1 lab	6d28c90964
X:100912304 ARMCX2 C>G	X	100912304	100912304	C	G	ARMCX2	c.271G>C	NM_177949.3	NP_808818.1:p.(Asp91His)	NC_000023.10:g.100912304C>G	(Likely) benign	1 lab	6d2c624d0c
17:18055245 MYO15A G>A	17	18055245	18055245	G	A	MYO15A	c.7873G>A	NM_016239.3	NP_057323.3:p.(Ala2625Thr)	NC_000017.10:g.18055245G>A	VUS	1 lab	6d2d31a8e3
12:21176220 SLCO1B7 G>C	12	21176220	21176220	G	C	SLCO1B7	c.585G>C	NM_001009562.4	NP_001009562.3:p.(Leu195=)	NC_000012.11:g.21176220G>C	(Likely) benign	1 lab	6d2f62e91e
7:2578022 BRAT1 G>A	7	2578022	2578022	G	A	BRAT1	c.2327C>T	NM_001350626.1	NP_001337555.1:p.(Ala776Val)	NC_000007.13:g.2578022G>A	VUS	1 lab	6d30afe1ec
15:67073741 SMAD6 C>T	15	67073741	67073741	C	T	SMAD6	c.1359C>T	NM_005585.4	NP_005576.3:p.(Asp453=)	NC_000015.9:g.67073741C>T	(Likely) benign	1 lab	6d32dfd928
15:23890347 MAGEL2 G>C	15	23890347	23890347	G	C	MAGEL2	c.2543C>G	NM_019066.4	NP_061939.3:p.(Ser848Trp)	NC_000015.9:g.23890347G>C	VUS	1 lab	6d360c59cc
17:79782405 MCRIP1 G>A	17	79782405	79782405	G	A	MCRIP1	c.41C>T	NM_001288798.1	NP_001275727.1:p.(Ala14Val)	NC_000017.10:g.79782405G>A	VUS	1 lab	6d3876212a
1:92946479 GFI1 G>A	1	92946479	92946479	G	A	GFI1	c.465C>T	NM_005263.5	NP_005254.2:p.(Cys155=)	NC_000001.10:g.92946479G>A	(Likely) benign	1 lab	f60e699c54
21:45751839 CFAP410 G>T	21	45751839	45751839	G	T	CFAP410	c.432C>A	NM_001271441.1	NP_001258370.1:p.(Ala144=)	NC_000021.8:g.45751839G>T	(Likely) pathogenic	1 lab	6d398e3526
6:52103639 IL17F G>A	6	52103639	52103639	G	A	IL17F	c.143C>T	NM_052872.3	NP_443104.1:p.(Pro48Leu)	NC_000006.11:g.52103639G>A	VUS	1 lab	6d39ec18dc
16:89346728 ANKRD11 T>C	16	89346728	89346728	T	C	ANKRD11	c.6222A>G	NM_001256182.1	NP_001243111.1:p.(Glu2074=)	NC_000016.9:g.89346728T>C	(Likely) benign	1 lab	6d3c59b690
5:145508244 LARS1 T>G	5	145508244	145508244	T	G	LARS1	c.2871A>C	NM_020117.10	NP_064502.9:p.(Lys957Asn)	NC_000005.9:g.145508244T>G	(Likely) benign	1 lab	6d3d3f5a7b
X:49845287 CLCN5 G>A	X	49845287	49845287	G	A	CLCN5	c.640G>A	NM_001127899.3	NP_001121371.1:p.(Val214Ile)	NC_000023.10:g.49845287G>A	(Likely) benign	1 lab	6d3e3c9eee
X:84634269 POF1B T>C	X	84634269	84634269	T	C	POF1B	c.191A>G	NM_024921.3	NP_079197.3:p.(Gln64Arg)	NC_000023.10:g.84634269T>C	(Likely) benign	1 lab	6d40373d0d
2:241535888 CAPN10 G>A	2	241535888	241535888	G	A	CAPN10	c.1431G>A	NM_023083.3	NP_075571.1:p.(Ala477=)	NC_000002.11:g.241535888G>A	(Likely) benign	1 lab	6d42565e5e
7:128498135 FLNC C>T	7	128498135	128498135	C	T	FLNC	c.7854C>T	NM_001458.4	NP_001449.3:p.(Ser2618=)	NC_000007.13:g.128498135C>T	(Likely) benign	1 lab	6d433a7324
21:33068965 SCAF4 G>A	21	33068965	33068965	G	A	SCAF4	c.876C>T	NM_020706.2	NP_065757.1:p.(Ala292=)	NC_000021.8:g.33068965G>A	(Likely) benign	1 lab	6d46b87032
9:139733709 RABL6 C>T	9	139733709	139733709	C	T	RABL6	c.1532C>T	NM_001173988.1	NP_001167459.1:p.(Thr511Ile)	NC_000009.11:g.139733709C>T	VUS	1 lab	6d48dcec0b
7:4830525 AP5Z1 G>A	7	4830525	4830525	G	A	AP5Z1	c.2153+7G>A	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4830525G>A	(Likely) benign	1 lab	6d4930f483
9:13123227 MPDZ G>A	9	13123227	13123227	G	A	MPDZ	c.4878C>T	NM_003829.4	NP_003820.2:p.(Cys1626=)	NC_000009.11:g.13123227G>A	(Likely) benign	1 lab	6d4ae2bf74
16:3558279 CLUAP1 C>T	16	3558279	3558279	C	T	CLUAP1	c.220-10C>T	NM_001330454.1	NP_001317383.1:p.?	NC_000016.9:g.3558279C>T	(Likely) benign	1 lab	6d4bf4120c
4:8869647 HMX1 C>A	4	8869647	8869647	C	A	HMX1	c.819G>T	NM_018942.2	NP_061815.2:p.(Pro273=)	NC_000004.11:g.8869647C>A	(Likely) benign	1 lab	6d4f399877
2:29519588 ALK A>AGTGT	2	29519588	29519607	A	AGTGT	ALK	c.1817+162_1817+165dup	NM_004304.3	NP_004295.2:p.?	NC_000002.11:g.29519604_29519607dup	(Likely) benign	1 lab	6d5154c7d1
2:179430536 TTN C>T	2	179430536	179430536	C	T	TTN	c.80323G>A	NM_001267550.1	NP_001254479.1:p.(Val26775Met)	NC_000002.11:g.179430536C>T	VUS	1 lab	6d530fa3fb
X:23934425 CXorf58 G>A	X	23934425	23934425	G	A	CXorf58	c.403G>A	NM_152761.2	NP_689974.2:p.(Val135Ile)	NC_000023.10:g.23934425G>A	(Likely) benign	1 lab	6d5344fa5c
12:15811031 EPS8 C>T	12	15811031	15811031	C	T	EPS8	c.1083G>A	NM_004447.5	NP_004438.3:p.(Leu361=)	NC_000012.11:g.15811031C>T	(Likely) benign	1 lab	6d554626e7
9:78943109 PCSK5 G>A	9	78943109	78943109	G	A	PCSK5	c.4443G>A	NM_001190482.1	NP_001177411.1:p.(Pro1481=)	NC_000009.11:g.78943109G>A	(Likely) benign	1 lab	6d5567e64f
15:65943076 SLC24A1 AGAGGAGGAGGAAGAGCAGGAGGAAGAG>A	15	65943076	65943141	AGAGGAGGAGGAAGAGCAGGAGGAAGAG	A	SLC24A1	c.2628_2654del	NM_004727.3	NP_004718.1:p.(Gln878_Glu886del)	NC_000015.9:g.65943115_65943141del	(Likely) benign	1 lab	6d57f1ef25
11:66460430 SPTBN2 G>A	11	66460430	66460430	G	A	SPTBN2	c.4985+11C>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66460430G>A	(Likely) benign	1 lab	6d592c9ae1
11:62291435 AHNAK G>A	11	62291435	62291435	G	A	AHNAK	c.10454C>T	NM_001620.3	NP_001611.1:p.(Ser3485Phe)	NC_000011.9:g.62291435G>A	VUS	1 lab	f6132b538f
17:29684030 NF1 AG>A	17	29684030	29684031	AG	A	NF1	c.7792del	NM_001042492.3	NP_001035957.1:p.(Val2598CysfsTer26)	NC_000017.10:g.29684031del	(Likely) pathogenic	1 lab	6d5b581302
5:73109428 ARHGEF28 C>T	5	73109428	73109428	C	T	ARHGEF28	c.15C>T	NM_001244364.1	NP_001231293.1:p.(Ser5=)	NC_000005.9:g.73109428C>T	(Likely) benign	1 lab	6d5d433256
14:91739855 CCDC88C T>C	14	91739855	91739855	T	C	CCDC88C	c.5201A>G	NM_001080414.3	NP_001073883.2:p.(Lys1734Arg)	NC_000014.8:g.91739855T>C	VUS	1 lab	6d5d7d4320
2:182543478 NEUROD1 T>G	2	182543478	182543478	T	G	NEUROD1	c.110A>C	NM_002500.4	NP_002491.2:p.(Asp37Ala)	NC_000002.11:g.182543478T>G	VUS	1 lab	6d5f1298d4
20:61940051 COL20A1 C>A	20	61940051	61940051	C	A	COL20A1	c.933C>A	NM_020882.2	NP_065933.2:p.(Phe311Leu)	NC_000020.10:g.61940051C>A	VUS	1 lab	6d635dba55
9:139391441 NOTCH1 C>T	9	139391441	139391441	C	T	NOTCH1	c.6750G>A	NM_017617.5	NP_060087.3:p.(Ala2250=)	NC_000009.11:g.139391441C>T	(Likely) benign	1 lab	6d64e50e12
6:152690586 SYNE1 C>T	6	152690586	152690586	C	T	SYNE1	c.9651+20G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152690586C>T	(Likely) benign	1 lab	6d6584ebc8
X:18956755 PHKA2 T>C	X	18956755	18956755	T	C	PHKA2	c.1031A>G	NM_000292.2	NP_000283.1:p.(Asp344Gly)	NC_000023.10:g.18956755T>C	VUS	1 lab	6d67277596
8:8235163 PRAG1 C>T	8	8235163	8235163	C	T	PRAG1	c.756G>A	NM_001080826.2	NP_001074295.2:p.(Glu252=)	NC_000008.10:g.8235163C>T	(Likely) benign	1 lab	6d6a686bdb
16:88505651 ZNF469 GC>G	16	88505651	88505653	GC	G	ZNF469	c.11775del	NM_001367624.2	NP_001354553.1:p.(Glu3926ArgfsTer15)	NC_000016.9:g.88505653del	VUS	1 lab	6d6a8ab77d
12:68051822 DYRK2 G>A	12	68051822	68051822	G	A	DYRK2	c.1135G>A	NM_006482.2	NP_006473.2:p.(Val379Ile)	NC_000012.11:g.68051822G>A	VUS	1 lab	6d6e9c9440
2:152514525 NEB G>T	2	152514525	152514525	G	T	NEB	c.6155C>A	NM_001271208.1	NP_001258137.1:p.(Ala2052Asp)	NC_000002.11:g.152514525G>T	VUS	1 lab	6d6ed7303b
4:79366713 FRAS1 G>A	4	79366713	79366713	G	A	FRAS1	c.5703G>A	NM_025074.7	NP_079350.5:p.(Glu1901=)	NC_000004.11:g.79366713G>A	(Likely) benign	1 lab	6d706114aa
7:44269103 CAMK2B G>A	7	44269103	44269103	G	A	CAMK2B	c.1226-3C>T	NM_001220.4	NP_001211.3:p.?	NC_000007.13:g.44269103G>A	(Likely) benign	1 lab	6d71fdd146
4:178361432 AGA C>T	4	178361432	178361432	C	T	AGA	c.276G>A	NM_000027.3	NP_000018.2:p.(Met92Ile)	NC_000004.11:g.178361432C>T	VUS	1 lab	6d742201df
19:7593048 MCOLN1 C>T	19	7593048	7593048	C	T	MCOLN1	c.782C>T	NM_020533.2	NP_065394.1:p.(Thr261Met)	NC_000019.9:g.7593048C>T	(Likely) benign	1 lab	6d75b9c176
X:57162802 SPIN2A G>T	X	57162802	57162802	G	T	SPIN2A	c.229C>A	NM_019003.3	NP_061876.3:p.(Pro77Thr)	NC_000023.10:g.57162802G>T	(Likely) benign	1 lab	6d75d237cb
4:103533226 NFKB1 C>G	4	103533226	103533226	C	G	NFKB1	c.2378C>G	NM_003998.4	NP_003989.2:p.(Pro793Arg)	NC_000004.11:g.103533226C>G	VUS	1 lab	6d76b408ae
16:2121524 TSC2 T>C	16	2121524	2121524	T	C	TSC2	c.1853T>C	NM_000548.3	NP_000539.2:p.(Leu618Pro)	NC_000016.9:g.2121524T>C	(Likely) pathogenic	1 lab	6d78b61ed3
7:117230406 CFTR G>C	7	117230406	117230406	G	C	CFTR	c.1680-1G>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117230406G>C	(Likely) pathogenic	1 lab	6d7bc0990b
22:16449517 OR11H1 C>T	22	16449517	16449517	C	T	OR11H1	c.288G>A	NM_001005239.1	NP_001005239.1:p.(Met96Ile)	NC_000022.10:g.16449517C>T	(Likely) benign	1 lab	6d7c054985
1:22182333 HSPG2 G>A	1	22182333	22182333	G	A	HSPG2	c.5651C>T	NM_001291860.1	NP_001278789.1:p.(Ala1884Val)	NC_000001.10:g.22182333G>A	VUS	1 lab	6d7ff6a40c
11:121466430 SORL1 C>T	11	121466430	121466430	C	T	SORL1	c.4468C>T	NM_003105.5	NP_003096.1:p.(Arg1490Cys)	NC_000011.9:g.121466430C>T	VUS	1 lab	6d81cc06db
17:8791494 PIK3R5 T>C	17	8791494	8791494	T	C	PIK3R5	c.452A>G	NM_001251851.1	NP_001238780.1:p.(Asn151Ser)	NC_000017.10:g.8791494T>C	(Likely) benign	1 lab	6d83ad08a8
6:43612818 RSPH9 A>G	6	43612818	43612818	A	G	RSPH9	c.-18A>G	NM_001193341.1	NP_001180270.1:p.?	NC_000006.11:g.43612818A>G	(Likely) benign	1 lab	6d840e6466
11:57576852 CTNND1 C>T	11	57576852	57576852	C	T	CTNND1	c.2349C>T	NM_001085458.1	NP_001078927.1:p.(Asn783=)	NC_000011.9:g.57576852C>T	(Likely) benign	1 lab	6d8436b812
4:79205708 FRAS1 G>T	4	79205708	79205708	G	T	FRAS1	c.1399+6G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79205708G>T	(Likely) benign	1 lab	6d8442958d
X:102192355 RAB40AL G>A	X	102192355	102192355	G	A	RAB40AL	c.109G>A	NM_001031834.1	NP_001027004.1:p.(Gly37Ser)	NC_000023.10:g.102192355G>A	VUS	1 lab	6d8520110a
9:139405202 NOTCH1 G>A	9	139405202	139405202	G	A	NOTCH1	c.2643C>T	NM_017617.5	NP_060087.3:p.(Gly881=)	NC_000009.11:g.139405202G>A	VUS	1 lab	6d856b30f3
19:33512541 RHPN2 G>A	19	33512541	33512541	G	A	RHPN2	c.326C>T	NM_033103.5	NP_149094.3:p.(Thr109Met)	NC_000019.9:g.33512541G>A	VUS	1 lab	6d85b3db05
9:34512393 DNAI1 T>G	9	34512393	34512393	T	G	DNAI1	c.1460T>G	NM_012144.3	NP_036276.1:p.(Val487Gly)	NC_000009.11:g.34512393T>G	(Likely) benign	1 lab	6d86d5f902
9:117241043 WHRN C>T	9	117241043	117241043	C	T	WHRN	c.627G>A	NM_015404.3	NP_056219.3:p.(Lys209=)	NC_000009.11:g.117241043C>T	(Likely) benign	1 lab	6d88fc056d
19:1465701 APC2 G>A	19	1465701	1465701	G	A	APC2	c.2401G>A	NM_005883.3	NP_005874.1:p.(Ala801Thr)	NC_000019.9:g.1465701G>A	VUS	1 lab	f61839fe30
16:31308825 ITGAM T>A	16	31308825	31308825	T	A	ITGAM	c.1357-10T>A	NM_001145808.1	NP_001139280.1:p.?	NC_000016.9:g.31308825T>A	(Likely) benign	1 lab	6d89f65c32
X:66766119 AR TC>T	X	66766119	66766121	TC	T	AR	c.1133del	NM_000044.6	NP_000035.2:p.(Pro378ArgfsTer101)	NC_000023.10:g.66766121del	(Likely) pathogenic	1 lab	6d8a434f60
17:41053006 G6PC1 A>T	17	41053006	41053006	A	T	G6PC1	c.113A>T	NM_000151.4	NP_000142.2:p.(Asp38Val)	NC_000017.10:g.41053006A>T	(Likely) pathogenic	1 lab	f6185fbfd9
1:1458118 ATAD3A C>T	1	1458118	1458118	C	T	ATAD3A	c.895-6C>T	NM_018188.4	NP_060658.3:p.?	NC_000001.10:g.1458118C>T	(Likely) benign	1 lab	6d8b16f237
17:29483033 NF1 T>TA	17	29483033	29483034	T	TA	NF1	c.94dup	NM_000267.3	NP_000258.1:p.(Thr32AsnfsTer6)	NC_000017.10:g.29483034dup	(Likely) pathogenic	1 lab	6d8b41e270
1:116280980 CASQ2 C>G	1	116280980	116280980	C	G	CASQ2	c.421-24G>C	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116280980C>G	(Likely) benign	1 lab	6d8c0ed2b6
3:182775131 MCCC1 G>A	3	182775131	182775131	G	A	MCCC1	c.841C>T	NM_020166.4	NP_064551.3:p.(Arg281Ter)	NC_000003.11:g.182775131G>A	(Likely) pathogenic	1 lab	6d8cc85057
15:40916028 KNL1 T>C	15	40916028	40916028	T	C	KNL1	c.3644T>C	NM_170589.4	NP_733468.3:p.(Phe1215Ser)	NC_000015.9:g.40916028T>C	VUS	1 lab	6d8ce2b5e9
X:53578112 HUWE1 T>C	X	53578112	53578112	T	C	HUWE1	c.9135A>G	NM_031407.6	NP_113584.3:p.(Glu3045=)	NC_000023.10:g.53578112T>C	(Likely) benign	1 lab	6d8d580792
20:2397976 TGM6 C>T	20	2397976	2397976	C	T	TGM6	c.1435C>T	NM_198994.2	NP_945345.2:p.(Arg479Cys)	NC_000020.10:g.2397976C>T	VUS	1 lab	6d8d8c6456
4:9227874 USP17L13 C>T	4	9227874	9227874	C	T	USP17L13	c.1253C>T	NM_001256855.1	NP_001243784.1:p.(Pro418Leu)	NC_000004.11:g.9227874C>T	VUS	1 lab	6d8f265c2a
3:100949984 IMPG2 C>T	3	100949984	100949984	C	T	IMPG2	c.3239G>A	NM_016247.3	NP_057331.2:p.(Arg1080Gln)	NC_000003.11:g.100949984C>T	VUS	1 lab	6d90ce2a73
3:128205752 GATA2 A>T	3	128205752	128205752	A	T	GATA2	c.123T>A	NM_001145661.1	NP_001139133.1:p.(Pro41=)	NC_000003.11:g.128205752A>T	(Likely) benign	1 lab	6d91301e98
1:24486084 IFNLR1 T>A	1	24486084	24486084	T	A	IFNLR1	c.550A>T	NM_170743.4	NP_734464.1:p.(Ile184Phe)	NC_000001.10:g.24486084T>A	VUS	1 lab	6d91b85ccf
13:103527687 ERCC5 T>G	13	103527687	103527687	T	G	ERCC5	c.2995T>G	NM_000123.3	NP_000114.2:p.(Leu999Val)	NC_000013.10:g.103527687T>G	(Likely) benign	1 lab	6d91de4820
7:83119520 SEMA3E C>A	7	83119520	83119520	C	A	SEMA3E	c.186G>T	NM_012431.3	NP_036563.1:p.(Leu62=)	NC_000007.13:g.83119520C>A	(Likely) benign	1 lab	6d9227902e
10:102770249 PDZD7 C>A	10	102770249	102770249	C	A	PDZD7	c.2397G>T	NM_001195263.1	NP_001182192.1:p.(Pro799=)	NC_000010.10:g.102770249C>A	(Likely) benign	1 lab	6d92dcb078
11:2188265 TH G>A	11	2188265	2188265	G	A	TH	c.789-3C>T	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2188265G>A	(Likely) benign	1 lab	6d945a2ef9
14:53010188 TXNDC16 C>G	14	53010188	53010188	C	G	TXNDC16	c.88G>C	NM_020784.3	NP_065835.2:p.(Glu30Gln)	NC_000014.8:g.53010188C>G	VUS	1 lab	6d971e8759
15:28475510 HERC2 C>G	15	28475510	28475510	C	G	HERC2	c.4809+3G>C	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28475510C>G	(Likely) benign	1 lab	6d976fcded
17:10543659 MYH3 A>T	17	10543659	10543659	A	T	MYH3	c.2417T>A	NM_002470.3	NP_002461.2:p.(Val806Glu)	NC_000017.10:g.10543659A>T	VUS	1 lab	6d995ac601
13:23929084 SACS A>G	13	23929084	23929084	A	G	SACS	c.1667T>C	NM_014363.5	NP_055178.3:p.(Leu556Pro)	NC_000013.10:g.23929084A>G	VUS	1 lab	6d99d9a587
19:41349750 CYP2A6 C>A	19	41349750	41349750	C	A	CYP2A6	c.1436G>T	NM_000762.5	NP_000753.3:p.(Gly479Val)	NC_000019.9:g.41349750C>A	VUS	1 lab	6d99f0d6af
11:94219174 MRE11 T>A	11	94219174	94219174	T	A	MRE11	c.230A>T	NM_001330347.1	NP_001317276.1:p.(Glu77Val)	NC_000011.9:g.94219174T>A	VUS	1 lab	6d9a7cdcb2
22:31006957 TCN2 A>G	22	31006957	31006957	A	G	TCN2	c.164A>G	NM_001184726.1	NP_001171655.1:p.(Tyr55Cys)	NC_000022.10:g.31006957A>G	VUS	1 lab	6d9ab69498
16:88808818 PIEZO1 C>T	16	88808818	88808818	C	T	PIEZO1	c.173G>A	NM_001142864.4	NP_001136336.2:p.(Arg58His)	NC_000016.9:g.88808818C>T	VUS	1 lab	6d9ab6c121
6:80202321 LCA5 C>T	6	80202321	80202321	C	T	LCA5	c.902G>A	NM_181714.3	NP_859065.2:p.(Arg301His)	NC_000006.11:g.80202321C>T	VUS	1 lab	6d9b4754fa
1:227149111 COQ8A A>G	1	227149111	227149111	A	G	COQ8A	c.25A>G	NM_020247.4	NP_064632.2:p.(Ile9Val)	NC_000001.10:g.227149111A>G	(Likely) benign	1 lab	6d9cb3020a
19:3178857 S1PR4 C>T	19	3178857	3178857	C	T	S1PR4	c.67C>T	NM_003775.3	NP_003766.1:p.(Arg23Trp)	NC_000019.9:g.3178857C>T	(Likely) benign	1 lab	6d9e5970fe
19:50189461 PRMT1 G>A	19	50189461	50189461	G	A	PRMT1	c.871G>A	NM_001536.5	NP_001527.3:p.(Glu291Lys)	NC_000019.9:g.50189461G>A	VUS	1 lab	6d9e7e2cb9
11:72013017 CLPB A>G	11	72013017	72013017	A	G	CLPB	c.1258-9T>C	NM_030813.6	NP_110440.1:p.?	NC_000011.9:g.72013017A>G	(Likely) benign	1 lab	6d9e958442
15:91337421 BLM C>T	15	91337421	91337421	C	T	BLM	c.3044C>T	NM_000057.4	NP_000048.1:p.(Thr1015Ile)	NC_000015.9:g.91337421C>T	(Likely) benign	1 lab	f619ba3f23
7:117246657 CFTR G>C	7	117246657	117246657	G	C	CFTR	c.2909-71G>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117246657G>C	(Likely) benign	1 lab	6da0261b17
8:55537399 RP1 T>C	8	55537399	55537399	T	C	RP1	c.957T>C	NM_006269.1	NP_006260.1:p.(Ile319=)	NC_000008.10:g.55537399T>C	(Likely) benign	1 lab	6da05ec587
4:20611776 SLIT2 C>T	4	20611776	20611776	C	T	SLIT2	c.3833C>T	NM_004787.3	NP_004778.1:p.(Pro1278Leu)	NC_000004.11:g.20611776C>T	VUS	1 lab	6da09d6c4d
17:38975245 KRT10 C>G	17	38975245	38975245	C	G	KRT10	c.1542G>C	NM_000421.3	NP_000412.3:p.(Gly514=)	NC_000017.10:g.38975245C>G	(Likely) benign	1 lab	6da2e6bc02
17:40689451 NAGLU A>G	17	40689451	40689451	A	G	NAGLU	c.419A>G	NM_000263.3	NP_000254.2:p.(Tyr140Cys)	NC_000017.10:g.40689451A>G	(Likely) pathogenic	1 lab	6da3f26bce
X:69649476 GDPD2 G>A	X	69649476	69649476	G	A	GDPD2	c.1070G>A	NM_001171192.1	NP_001164663.1:p.(Arg357His)	NC_000023.10:g.69649476G>A	VUS	1 lab	6da6d9a0b7
6:56857183 BEND6 C>T	6	56857183	56857183	C	T	BEND6	c.128C>T	NM_001318539.1	NP_001305468.1:p.(Pro43Leu)	NC_000006.11:g.56857183C>T	VUS	1 lab	6da6fba9fb
15:48741080 FBN1 T>C	15	48741080	48741080	T	C	FBN1	c.5556A>G	NM_000138.4	NP_000129.3:p.(Glu1852=)	NC_000015.9:g.48741080T>C	(Likely) benign	1 lab	6daa4df988
6:80816582 BCKDHB C>T	6	80816582	80816582	C	T	BCKDHB	c.172C>T	NM_183050.4	NP_898871.1:p.(Pro58Ser)	NC_000006.11:g.80816582C>T	VUS	1 lab	6daa611e6f
7:73469078 ELN G>T	7	73469078	73469078	G	T	ELN	c.1129G>T	NM_001278939.1	NP_001265868.1:p.(Ala377Ser)	NC_000007.13:g.73469078G>T	VUS	1 lab	6dac2f2ed8
17:62082722 ICAM2 T>C	17	62082722	62082722	T	C	ICAM2	c.73A>G	NM_001099786.1	NP_001093256.1:p.(Lys25Glu)	NC_000017.10:g.62082722T>C	(Likely) benign	1 lab	6dad424d27
22:21063635 PI4KA T>G	22	21063635	21063635	T	G	PI4KA	c.6206A>C	NM_058004.3	NP_477352.3:p.(Glu2069Ala)	NC_000022.10:g.21063635T>G	VUS	1 lab	6daf046caf
2:237032566 AGAP1 G>A	2	237032566	237032566	G	A	AGAP1	c.2215G>A	NM_014914.5	NP_055729.2:p.(Gly739Arg)	NC_000002.11:g.237032566G>A	VUS	1 lab	f61cb92eeb
6:3154476 TUBB2A C>T	6	3154476	3154476	C	T	TUBB2A	c.704G>A	NM_001310315.1	NP_001297244.1:p.(Arg235His)	NC_000006.11:g.3154476C>T	(Likely) benign	1 lab	6daf60800a
22:50312428 CRELD2 C>G	22	50312428	50312428	C	G	CRELD2	c.11C>G	NM_001135101.2	NP_001128573.1:p.(Pro4Arg)	NC_000022.10:g.50312428C>G	(Likely) benign	1 lab	6db0bc4463
4:41262769 UCHL1 G>A	4	41262769	41262769	G	A	UCHL1	c.280G>A	NM_004181.4	NP_004172.2:p.(Gly94Arg)	NC_000004.11:g.41262769G>A	VUS	1 lab	6db0e2cbdc
11:60971611 PGA3 G>A	11	60971611	60971611	G	A	PGA3	c.89G>A	NM_001079807.3	NP_001073275.1:p.(Arg30His)	NC_000011.9:g.60971611G>A	VUS	1 lab	6db2719f57
11:65307087 LTBP3 G>C	11	65307087	65307087	G	C	LTBP3	c.3560C>G	NM_001130144.2	NP_001123616.1:p.(Pro1187Arg)	NC_000011.9:g.65307087G>C	VUS	1 lab	6db3dfa699
6:16328268 ATXN1 C>T	6	16328268	16328268	C	T	ATXN1	c.274G>A	NM_000332.3	NP_000323.2:p.(Ala92Thr)	NC_000006.11:g.16328268C>T	(Likely) benign	1 lab	6db42b5286
11:119215690 MFRP G>T	11	119215690	119215690	G	T	MFRP	c.666C>A	NM_031433.3	NP_113621.1:p.(Pro222=)	NC_000011.9:g.119215690G>T	(Likely) benign	1 lab	6db70f59fe
12:49427641 KMT2D A>G	12	49427641	49427641	A	G	KMT2D	c.10847T>C	NM_003482.3	NP_003473.3:p.(Val3616Ala)	NC_000012.11:g.49427641A>G	(Likely) benign	1 lab	6db7d620c3
16:70902477 HYDIN C>T	16	70902477	70902477	C	T	HYDIN	c.11306G>A	NM_001270974.2	NP_001257903.1:p.(Arg3769Gln)	NC_000016.9:g.70902477C>T	VUS	1 lab	6db861ae53
X:153137598 L1CAM G>A	X	153137598	153137598	G	A	L1CAM	c.400+9C>T	NM_001278116.1	NP_001265045.1:p.?	NC_000023.10:g.153137598G>A	VUS	1 lab	6db9958f48
4:187629345 FAT1 G>A	4	187629345	187629345	G	A	FAT1	c.1637C>T	NM_005245.3	NP_005236.2:p.(Pro546Leu)	NC_000004.11:g.187629345G>A	VUS	1 lab	6dbaf160b1
17:29422306 NF1 G>C	17	29422306	29422306	G	C	NF1	c.-22G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422306G>C	(Likely) benign	1 lab	6dc0844a9a
13:32954230 BRCA2 TTGTTCTG>T	13	32954230	32954237	TTGTTCTG	T	BRCA2	c.9205_9211del	NM_000059.4	NP_000050.3:p.(Cys3069ArgfsTer4)	NC_000013.10:g.32954231_32954237del	(Likely) pathogenic	1 lab	6dc24b3daf
7:150883498 ASB10 G>A	7	150883498	150883498	G	A	ASB10	c.565C>T	NM_001142460.1	NP_001135932.2:p.(Arg189Trp)	NC_000007.13:g.150883498G>A	VUS	1 lab	6dc5b934e0
11:2906195 CDKN1C G>C	11	2906195	2906195	G	C	CDKN1C	c.525C>G	NM_000076.2	NP_000067.1:p.(Val175=)	NC_000011.9:g.2906195G>C	(Likely) benign	1 lab	6dc603e39b
17:4907313 KIF1C G>A	17	4907313	4907313	G	A	KIF1C	c.885G>A	NM_006612.5	NP_006603.2:p.(Ser295=)	NC_000017.10:g.4907313G>A	(Likely) benign	1 lab	6dc655d473
15:99478225 IGF1R G>A	15	99478225	99478225	G	A	IGF1R	c.3129G>A	NM_000875.4	NP_000866.1:p.(Glu1043=)	NC_000015.9:g.99478225G>A	(Likely) benign	1 lab	6dc6c6f83e
5:6605506 NSUN2 C>A	5	6605506	6605506	C	A	NSUN2	c.1617G>T	NM_017755.5	NP_060225.4:p.(Leu539Phe)	NC_000005.9:g.6605506C>A	VUS	1 lab	6dc7e2ca98
5:150696539 SLC36A2 ACG>A	5	150696539	150696541	ACG	A	SLC36A2	c.1289_1290del	NM_181776.3	NP_861441.2:p.(Thr430IlefsTer94)	NC_000005.9:g.150696540_150696541del	VUS	1 lab	6dc85f1510
2:29287841 PCARE G>A	2	29287841	29287841	G	A	PCARE	c.3761C>T	NM_001029883.2	NP_001025054.1:p.(Pro1254Leu)	NC_000002.11:g.29287841G>A	(Likely) benign	1 lab	6dc962bc02
19:33600767 GPATCH1 C>T	19	33600767	33600767	C	T	GPATCH1	c.1430C>T	NM_018025.2	NP_060495.2:p.(Ser477Phe)	NC_000019.9:g.33600767C>T	(Likely) benign	1 lab	6dcb094fec
9:135781005 TSC1 G>A	9	135781005	135781005	G	A	TSC1	c.1960C>T	NM_000368.4	NP_000359.1:p.(Gln654Ter)	NC_000009.11:g.135781005G>A	(Likely) pathogenic	1 lab	6dcb4059bf
1:74832996 TNNI3K C>T	1	74832996	74832996	C	T	TNNI3K	c.1234C>T	NM_015978.2	NP_057062.1:p.(Pro412Ser)	NC_000001.10:g.74832996C>T	VUS	1 lab	6dcb965a6f
X:47039832 RBM10 A>G	X	47039832	47039832	A	G	RBM10	c.1370A>G	NM_001204468.1	NP_001191397.1:p.(Asn457Ser)	NC_000023.10:g.47039832A>G	(Likely) benign	1 lab	6dcbb578ae
17:43531485 PLEKHM1 G>A	17	43531485	43531485	G	A	PLEKHM1	c.1733C>T	NM_014798.2	NP_055613.1:p.(Ser578Leu)	NC_000017.10:g.43531485G>A	VUS	1 lab	6dcc2f07d3
17:73759132 GALK1 T>A	17	73759132	73759132	T	A	GALK1	c.574A>T	NM_000154.1	NP_000145.1:p.(Met192Leu)	NC_000017.10:g.73759132T>A	(Likely) benign	1 lab	6dcc7dcc74
X:66943598 AR C>T	X	66943598	66943598	C	T	AR	c.2678C>T	NM_000044.4	NP_000035.2:p.(Pro893Leu)	NC_000023.10:g.66943598C>T	(Likely) pathogenic	1 lab	6dcd0c505e
17:19247154 B9D1 G>A	17	19247154	19247154	G	A	B9D1	c.421C>T	NM_001321218.1	NP_001308147.1:p.(Arg141Trp)	NC_000017.10:g.19247154G>A	VUS	1 lab	6dcdf52e82
1:220326717 RAB3GAP2 T>C	1	220326717	220326717	T	C	RAB3GAP2	c.3677A>G	NM_012414.3	NP_036546.2:p.(Gln1226Arg)	NC_000001.10:g.220326717T>C	(Likely) benign	1 lab	6dcf9b75c7
15:31294287 TRPM1 C>T	15	31294287	31294287	C	T	TRPM1	c.4667G>A	NM_001252020.1	NP_001238949.1:p.(Arg1556Gln)	NC_000015.9:g.31294287C>T	(Likely) benign	1 lab	6dd15747f6
17:73750768 ITGB4 T>C	17	73750768	73750768	T	C	ITGB4	c.4430T>C	NM_000213.4	NP_000204.3:p.(Val1477Ala)	NC_000017.10:g.73750768T>C	(Likely) benign	1 lab	6dd37c5b33
2:179429092 TTN T>C	2	179429092	179429092	T	C	TTN	c.81767A>G	NM_001267550.1	NP_001254479.1:p.(Glu27256Gly)	NC_000002.11:g.179429092T>C	VUS	1 lab	6dd555a028
X:105449906 PWWP3B G>A	X	105449906	105449906	G	A	PWWP3B	c.481G>A	NM_152423.4	NP_689636.3:p.(Asp161Asn)	NC_000023.10:g.105449906G>A	(Likely) benign	1 lab	6dd71a65ae
1:227153401 COQ8A G>A	1	227153401	227153401	G	A	COQ8A	c.618G>A	NM_020247.4	NP_064632.2:p.(Val206=)	NC_000001.10:g.227153401G>A	(Likely) benign	1 lab	6dd73224c0
11:22646945 FANCF G>T	11	22646945	22646945	G	T	FANCF	c.412C>A	NM_022725.3	NP_073562.1:p.(Arg138Ser)	NC_000011.9:g.22646945G>T	VUS	1 lab	6dd84eb2c5
12:49580384 TUBA1A G>A	12	49580384	49580384	G	A	TUBA1A	c.226+10C>T	NM_001270399.1	NP_001257328.1:p.?	NC_000012.11:g.49580384G>A	(Likely) benign	1 lab	6dd8ab0db4
2:179452138 TTN G>A	2	179452138	179452138	G	A	TTN	c.63800C>T	NM_001267550.1	NP_001254479.1:p.(Pro21267Leu)	NC_000002.11:g.179452138G>A	VUS	1 lab	6ddb6eb767
4:128807723 PLK4 C>CAGA	4	128807723	128807725	C	CAGA	PLK4	c.1199_1200insGAA	NM_014264.4	NP_055079.3:p.(His400delinsGlnAsn)	NC_000004.11:g.128807724_128807725insGAA	VUS	1 lab	6ddcdcbb2e
4:89015728 ABCG2 C>T	4	89015728	89015728	C	T	ABCG2	c.1820+1G>A	NM_001348985.1	NP_001335914.1:p.?	NC_000004.11:g.89015728C>T	VUS	1 lab	6dddacc1e6
12:111926309 ATXN2 G>A	12	111926309	111926309	G	A	ATXN2	c.2691C>T	NM_002973.3	NP_002964.3:p.(Asp897=)	NC_000012.11:g.111926309G>A	(Likely) benign	1 lab	6dde109dfd
14:21831601 SUPT16H A>G	14	21831601	21831601	A	G	SUPT16H	c.1295T>C	NM_007192.3	NP_009123.1:p.(Leu432Pro)	NC_000014.8:g.21831601A>G	VUS	1 lab	6dde10d555
14:88450859 GALC G>T	14	88450859	88450859	G	T	GALC	c.461C>A	NM_000153.3	NP_000144.2:p.(Pro154His)	NC_000014.8:g.88450859G>T	(Likely) benign	1 lab	6dde58be55
X:153127554 L1CAM C>G	X	153127554	153127554	C	G	L1CAM	c.*564G>C	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153127554C>G	VUS	1 lab	f6218e8272
2:202580494 ALS2 C>T	2	202580494	202580494	C	T	ALS2	c.3905G>A	NM_020919.3	NP_065970.2:p.(Arg1302His)	NC_000002.11:g.202580494C>T	(Likely) benign	1 lab	6ddf88229e
19:12980064 MAST1 C>T	19	12980064	12980064	C	T	MAST1	c.2958C>T	NM_014975.2	NP_055790.1:p.(Val986=)	NC_000019.9:g.12980064C>T	(Likely) benign	1 lab	6de5ff4016
22:29130438 CHEK2 GC>G	22	29130438	29130439	GC	G	CHEK2	c.271del	NM_007194.4	NP_009125.1:p.(Ala91ProfsTer19)	NC_000022.10:g.29130439del	(Likely) pathogenic	1 lab	f621aac20d
1:103385924 COL11A1 C>A	1	103385924	103385924	C	A	COL11A1	c.3745-4G>T	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103385924C>A	(Likely) benign	1 lab	6de79f8749
14:100166408 CYP46A1 GGA>G	14	100166408	100166413	GGA	G	CYP46A1	c.417_418del	NM_006668.2	NP_006659.1:p.(Arg139SerfsTer13)	NC_000014.8:g.100166412_100166413del	VUS	1 lab	6de82a4a9c
22:47193498 TBC1D22A C>T	22	47193498	47193498	C	T	TBC1D22A	c.528C>T	NM_001284304.1	NP_001271233.1:p.(Ala176=)	NC_000022.10:g.47193498C>T	(Likely) benign	1 lab	6deb48b3cd
9:136523527 DBH TGC>T	9	136523527	136523529	TGC	T	DBH	c.1813_1814del	NM_000787.4	NP_000778.3:p.(Ala605TrpfsTer59)	NC_000009.11:g.136523528_136523529del	VUS	1 lab	6df0510eb3
21:45924714 TSPEAR A>G	21	45924714	45924714	A	G	TSPEAR	c.1601T>C	NM_001272037.1	NP_001258966.1:p.(Val534Ala)	NC_000021.8:g.45924714A>G	VUS	1 lab	6df438b346
16:31049325 STX4 G>A	16	31049325	31049325	G	A	STX4	c.223G>A	NM_001272095.1	NP_001259024.1:p.(Val75Met)	NC_000016.9:g.31049325G>A	VUS	1 lab	6df4ff7036
9:79968542 VPS13A A>T	9	79968542	79968542	A	T	VPS13A	c.7637A>T	NM_033305.2	NP_150648.2:p.(Tyr2546Phe)	NC_000009.11:g.79968542A>T	(Likely) benign	1 lab	6df66f4bab
17:27577276 CRYBA1 G>A	17	27577276	27577276	G	A	CRYBA1	c.173G>A	NM_005208.4	NP_005199.2:p.(Arg58His)	NC_000017.10:g.27577276G>A	(Likely) benign	1 lab	6df7000d5e
16:2135281 TSC2 C>T	16	2135281	2135281	C	T	TSC2	c.4620C>T	NM_000548.3	NP_000539.2:p.(Tyr1540=)	NC_000016.9:g.2135281C>T	(Likely) benign	1 lab	6df7d2c723
3:70014076 MITF C>T	3	70014076	70014076	C	T	MITF	c.1240C>T	NM_198159.2	NP_937802.1:p.(Arg414Trp)	NC_000003.11:g.70014076C>T	VUS	1 lab	6df7d6caec
2:24521653 ITSN2 G>A	2	24521653	24521653	G	A	ITSN2	c.1333C>T	NM_001348184.1	NP_001335113.1:p.(Arg445Cys)	NC_000002.11:g.24521653G>A	VUS	1 lab	6df981c437
2:27424304 MISSING C>T	2	27424304	27424304	C	T	MISSING				NC_000002.11:g.27424304C>T	(Likely) benign	1 lab	6dfae64cf4
4:103531785 NFKB1 T>A	4	103531785	103531785	T	A	NFKB1	c.2281T>A	NM_003998.4	NP_003989.2:p.(Trp761Arg)	NC_000004.11:g.103531785T>A	(Likely) benign	1 lab	6dfdc18635
9:94485980 ROR2 CAG>C	9	94485980	94485984	CAG	C	ROR2	c.2794_2795del	NM_004560.4	NP_004551.2:p.(Leu932AlafsTer36)	NC_000009.11:g.94485983_94485984del	VUS	1 lab	f6230a131d
1:197071360 ASPM T>A	1	197071360	197071360	T	A	ASPM	c.7021A>T	NM_018136.4	NP_060606.3:p.(Ile2341Phe)	NC_000001.10:g.197071360T>A	VUS	1 lab	6dff27fffd
12:56351007 PMEL G>A	12	56351007	56351007	G	A	PMEL	c.1080C>T	NM_006928.4	NP_008859.1:p.(Ser360=)	NC_000012.11:g.56351007G>A	(Likely) benign	1 lab	6e02bd7b70
X:153592694 FLNA T>C	X	153592694	153592694	T	C	FLNA	c.2069A>G	NM_001110556.2	NP_001104026.1:p.(Asn690Ser)	NC_000023.10:g.153592694T>C	(Likely) benign	1 lab	6e02d14eeb
20:62294222 RTEL1 A>G	20	62294222	62294222	A	G	RTEL1	c.590A>G	NM_032957.5	NP_116575.3:p.(His197Arg)	NC_000020.10:g.62294222A>G	VUS	1 lab	f6277f3551
4:6303125 WFS1 C>G	4	6303125	6303125	C	G	WFS1	c.1603C>G	NM_006005.3	NP_005996.2:p.(Leu535Val)	NC_000004.11:g.6303125C>G	VUS	1 lab	6e03ccad44
11:62398200 GANAB T>C	11	62398200	62398200	T	C	GANAB	c.536A>G	NM_001329224.1	NP_001316153.1:p.(Asn179Ser)	NC_000011.9:g.62398200T>C	(Likely) benign	1 lab	6e062fc7d6
19:55742199 PPP6R1 G>C	19	55742199	55742199	G	C	PPP6R1	c.2513C>G	NM_014931.4	NP_055746.3:p.(Pro838Arg)	NC_000019.9:g.55742199G>C	(Likely) benign	1 lab	6e06dac6ca
4:3521837 LRPAP1 C>T	4	3521837	3521837	C	T	LRPAP1	c.433G>A	NM_002337.4	NP_002328.1:p.(Gly145Arg)	NC_000004.11:g.3521837C>T	VUS	1 lab	6e07ccc552
15:65343915 SLC51B C>T	15	65343915	65343915	C	T	SLC51B	c.160C>T	NM_178859.4	NP_849190.2:p.(Leu54Phe)	NC_000015.9:g.65343915C>T	VUS	1 lab	6e07ddefed
X:153694727 PLXNA3 G>A	X	153694727	153694727	G	A	PLXNA3	c.2808G>A	NM_017514.4	NP_059984.3:p.(Thr936=)	NC_000023.10:g.153694727G>A	(Likely) benign	1 lab	6e095f169b
3:113120127 CFAP44 T>C	3	113120127	113120127	T	C	CFAP44	c.1334A>G	NM_001164496.2	NP_001157968.1:p.(Asn445Ser)	NC_000003.11:g.113120127T>C	(Likely) benign	1 lab	6e0e990c6e
4:619660 PDE6B G>A	4	619660	619660	G	A	PDE6B	c.245G>A	NM_000283.3	NP_000274.2:p.(Arg82His)	NC_000004.11:g.619660G>A	VUS	1 lab	6e0ef58fd9
7:44047039 SPDYE1 C>T	7	44047039	44047039	C	T	SPDYE1	c.805C>T	NM_175064.2	NP_778234.2:p.(Arg269Cys)	NC_000007.13:g.44047039C>T	VUS	1 lab	6e10493707
15:90630402 IDH2 G>C	15	90630402	90630402	G	C	IDH2	c.909C>G	NM_002168.3	NP_002159.2:p.(Gly303=)	NC_000015.9:g.90630402G>C	(Likely) benign	1 lab	6e122ed455
4:15587809 CC2D2A T>A	4	15587809	15587809	T	A	CC2D2A	c.4005T>A	NM_001080522.2	NP_001073991.2:p.(Ile1335=)	NC_000004.11:g.15587809T>A	(Likely) benign	1 lab	6e13527035
18:6992634 LAMA1 ATTCTGTTGCATG>A	18	6992634	6992651	ATTCTGTTGCATG	A	LAMA1	c.5082_5093del	NM_005559.4	NP_005550.2:p.(Met1695_Asn1698del)	NC_000018.9:g.6992640_6992651del	VUS	1 lab	6e13cc811e
15:52536732 MYO5C T>C	15	52536732	52536732	T	C	MYO5C	c.2211A>G	NM_018728.4	NP_061198.2:p.(Lys737=)	NC_000015.9:g.52536732T>C	(Likely) benign	1 lab	6e154c6723
1:65867548 DNAJC6 G>C	1	65867548	65867548	G	C	DNAJC6	c.2212G>C	NM_001256864.2	NP_001243793.1:p.(Asp738His)	NC_000001.10:g.65867548G>C	VUS	1 lab	6e15d355e1
15:77059407 SCAPER T>C	15	77059407	77059407	T	C	SCAPER	c.1289A>G	NM_001353009.1	NP_001339938.1:p.(Lys430Arg)	NC_000015.9:g.77059407T>C	VUS	1 lab	6e16705fc6
1:98205946 DPYD A>G	1	98205946	98205946	A	G	DPYD	c.321+2T>C	NM_000110.3	NP_000101.2:p.?	NC_000001.10:g.98205946A>G	(Likely) pathogenic	1 lab	6e1673a9f5
6:161134099 PLG G>A	6	161134099	161134099	G	A	PLG	c.489G>A	NM_000301.3	NP_000292.1:p.(Trp163Ter)	NC_000006.11:g.161134099G>A	(Likely) pathogenic	1 lab	6e181a6b3a
2:179613770 TTN C>T	2	179613770	179613770	C	T	TTN	c.13357G>A	NM_133379.5	NP_596870.2:p.(Gly4453Arg)	NC_000002.11:g.179613770C>T	VUS	1 lab	f62d7278e1
2:121747614 GLI2 T>C	2	121747614	121747614	T	C	GLI2	c.4124T>C	NM_005270.4	NP_005261.2:p.(Leu1375Pro)	NC_000002.11:g.121747614T>C	(Likely) benign	1 lab	6e194fa690
18:56203898 ALPK2 T>G	18	56203898	56203898	T	G	ALPK2	c.3521A>C	NM_052947.4	NP_443179.3:p.(His1174Pro)	NC_000018.9:g.56203898T>G	(Likely) benign	1 lab	6e196055ce
X:44929026 KDM6A A>G	X	44929026	44929026	A	G	KDM6A	c.2282A>G	NM_001291415.1	NP_001278344.1:p.(Gln761Arg)	NC_000023.10:g.44929026A>G	VUS	1 lab	6e1a2412af
22:42321551 TNFRSF13C C>T	22	42321551	42321551	C	T	TNFRSF13C	c.375G>A	NM_052945.3	NP_443177.1:p.(Glu125=)	NC_000022.10:g.42321551C>T	(Likely) benign	1 lab	6e1aeada35
8:48697675 PRKDC G>A	8	48697675	48697675	G	A	PRKDC	c.11106C>T	NM_006904.6	NP_008835.5:p.(Pro3702=)	NC_000008.10:g.48697675G>A	(Likely) benign	1 lab	6e1b2098ec
12:81072772 MISSING T>A	12	81072772	81072772	T	A	MISSING				NC_000012.11:g.81072772T>A	(Likely) benign	1 lab	6e1c06e3bd
1:46496747 MAST2 T>C	1	46496747	46496747	T	C	MAST2	c.2315T>C	NM_001324321.1	NP_001311250.1:p.(Val772Ala)	NC_000001.10:g.46496747T>C	(Likely) benign	1 lab	6e1ccac975
5:180056787 FLT4 A>T	5	180056787	180056787	A	T	FLT4	c.725T>A	NM_182925.4	NP_891555.2:p.(Leu242Gln)	NC_000005.9:g.180056787A>T	VUS	1 lab	6e1f0a776b
1:43870180 SZT2 A>G	1	43870180	43870180	A	G	SZT2	c.457A>G	NM_001365999.1	NP_001352928.1:p.(Ile153Val)	NC_000001.10:g.43870180A>G	VUS	1 lab	6e1f6f839e
18:44121800 LOXHD1 G>A	18	44121800	44121800	G	A	LOXHD1	c.3852C>T	NM_144612.6	NP_653213.6:p.(Asp1284=)	NC_000018.9:g.44121800G>A	(Likely) benign	1 lab	6e1fb4c43a
X:48751418 TIMM17B G>C	X	48751418	48751418	G	C	TIMM17B	c.431C>G	NM_001167947.2	NP_001161419.1:p.(Thr144Ser)	NC_000023.10:g.48751418G>C	(Likely) benign	1 lab	6e21e0c20f
13:21732060 SKA3 C>G	13	21732060	21732060	C	G	SKA3	c.1119+1G>C	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21732060C>G	VUS	1 lab	6e2384acb5
1:28211859 THEMIS2 G>A	1	28211859	28211859	G	A	THEMIS2	c.700G>A	NM_004848.3	NP_004839.2:p.(Glu234Lys)	NC_000001.10:g.28211859G>A	(Likely) benign	1 lab	6e2416af9a
18:29126667 DSG2 A>C	18	29126667	29126667	A	C	DSG2	c.3318A>C	NM_001943.3	NP_001934.2:p.(Arg1106Ser)	NC_000018.9:g.29126667A>C	VUS	1 lab	6e249fa72d
19:11132411 SMARCA4 A>G	19	11132411	11132411	A	G	SMARCA4	c.2627A>G	NM_001128849.3	NP_001122321.1:p.(Lys876Arg)	NC_000019.9:g.11132411A>G	VUS	1 lab	f631ba1c57
22:50956011 NCAPH2 C>T	22	50956011	50956011	C	T	NCAPH2	c.272C>T	NM_001185011.1	NP_001171940.1:p.(Ala91Val)	NC_000022.10:g.50956011C>T	(Likely) benign	1 lab	6e25acc42e
9:13183553 MPDZ T>G	9	13183553	13183553	T	G	MPDZ	c.2513A>C	NM_003829.4	NP_003820.2:p.(Glu838Ala)	NC_000009.11:g.13183553T>G	VUS	1 lab	6e26774ad4
14:23874482 MYH6 G>A	14	23874482	23874482	G	A	MYH6	c.452C>T	NM_002471.3	NP_002462.2:p.(Pro151Leu)	NC_000014.8:g.23874482G>A	(Likely) pathogenic	1 lab	6e27d20888
X:154132256 F8 T>C	X	154132256	154132256	T	C	F8	c.5923A>G	NM_000132.3	NP_000123.1:p.(Ile1975Val)	NC_000023.10:g.154132256T>C	(Likely) benign	1 lab	6e2a14783b
8:144998876 PLEC G>A	8	144998876	144998876	G	A	PLEC	c.5632C>T	NM_201380.3	NP_958782.1:p.(Arg1878Cys)	NC_000008.10:g.144998876G>A	VUS	1 lab	6e2a51b878
4:151392869 LRBA G>A	4	151392869	151392869	G	A	LRBA	c.6574C>T	NM_001367550.1	NP_001354479.1:p.(Arg2192Cys)	NC_000004.11:g.151392869G>A	VUS	1 lab	6e2ba81335
6:80228584 LCA5 T>C	6	80228584	80228584	T	C	LCA5	c.28A>G	NM_181714.3	NP_859065.2:p.(Thr10Ala)	NC_000006.11:g.80228584T>C	(Likely) benign	1 lab	6e2d05822a
X:135126676 SLC9A6 A>T	X	135126676	135126676	A	T	SLC9A6	c.1899A>T	NM_001042537.1	NP_001036002.1:p.(Thr633=)	NC_000023.10:g.135126676A>T	(Likely) benign	1 lab	6e2daeaf6a
19:54619180 PRPF31 G>A	19	54619180	54619180	G	A	PRPF31	c.-9+3G>A	NM_015629.3	NP_056444.3:p.?	NC_000019.9:g.54619180G>A	(Likely) benign	1 lab	6e2dff69a1
1:240421322 FMN2 C>T	1	240421322	240421322	C	T	FMN2	c.4155C>T	NM_001305424.1	NP_001292353.1:p.(Asp1385=)	NC_000001.10:g.240421322C>T	(Likely) benign	1 lab	6e316c13c5
17:42426868 GRN C>T	17	42426868	42426868	C	T	GRN	c.213C>T	NM_002087.2	NP_002078.1:p.(His71=)	NC_000017.10:g.42426868C>T	(Likely) benign	1 lab	6e3327f9f4
1:27440503 SLC9A1 G>A	1	27440503	27440503	G	A	SLC9A1	c.627C>T	NM_003047.4	NP_003038.2:p.(Tyr209=)	NC_000001.10:g.27440503G>A	(Likely) benign	1 lab	6e34a9e015
9:129377769 LMX1B T>C	9	129377769	129377769	T	C	LMX1B	c.247T>C	NM_001174146.2	NP_001167617.1:p.(Cys83Arg)	NC_000009.11:g.129377769T>C	(Likely) pathogenic	1 lab	f63c3a7f99
8:100493950 VPS13B C>T	8	100493950	100493950	C	T	VPS13B	c.3790C>T	NM_017890.4	NP_060360.3:p.(Pro1264Ser)	NC_000008.10:g.100493950C>T	VUS	1 lab	6e361425a5
16:2156164 PKD1 C>T	16	2156164	2156164	C	T	PKD1	c.7631G>A	NM_001009944.2	NP_001009944.2:p.(Arg2544Lys)	NC_000016.9:g.2156164C>T	(Likely) benign	1 lab	6e38e86a94
17:79478602 ACTG1 G>A	17	79478602	79478602	G	A	ACTG1	c.414C>T	NM_001199954.2	NP_001186883.1:p.(Ala138=)	NC_000017.10:g.79478602G>A	(Likely) benign	1 lab	6e39eb106c
19:13409708 CACNA1A G>A	19	13409708	13409708	G	A	CACNA1A	c.2751C>T	NM_023035.2	NP_075461.2:p.(Pro917=)	NC_000019.9:g.13409708G>A	(Likely) benign	1 lab	6e3ce9b252
X:108719030 GUCY2F G>A	X	108719030	108719030	G	A	GUCY2F	c.136C>T	NM_001522.2	NP_001513.2:p.(Gln46Ter)	NC_000023.10:g.108719030G>A	VUS	1 lab	6e3cec5a9f
19:45924553 ERCC1 A>G	19	45924553	45924553	A	G	ERCC1	c.204T>C	NM_001983.3	NP_001974.1:p.(Pro68=)	NC_000019.9:g.45924553A>G	(Likely) benign	1 lab	6e3dd4bbf6
X:109937471 CHRDL1 C>T	X	109937471	109937471	C	T	CHRDL1	c.698G>A	NM_001143981.1	NP_001137453.1:p.(Arg233Gln)	NC_000023.10:g.109937471C>T	(Likely) benign	1 lab	6e3e8f4191
16:88798218 PIEZO1 C>T	16	88798218	88798218	C	T	PIEZO1	c.3092G>A	NM_001142864.4	NP_001136336.2:p.(Arg1031His)	NC_000016.9:g.88798218C>T	VUS	1 lab	f63db943a9
X:32361289 DMD C>G	X	32361289	32361289	C	G	DMD	c.5332G>C	NM_004010.3	NP_004001.1:p.(Ala1778Pro)	NC_000023.10:g.32361289C>G	(Likely) benign	1 lab	6e3fb33784
1:222892290 BROX G>A	1	222892290	222892290	G	A	BROX	c.125G>A	NM_144695.4	NP_653296.2:p.(Arg42Gln)	NC_000001.10:g.222892290G>A	VUS	1 lab	6e405f6e4f
12:49439749 KMT2D C>T	12	49439749	49439749	C	T	KMT2D	c.4695G>A	NM_003482.3	NP_003473.3:p.(Ala1565=)	NC_000012.11:g.49439749C>T	(Likely) benign	1 lab	6e40e7bd58
8:48691067 PRKDC C>T	8	48691067	48691067	C	T	PRKDC	c.11806G>A	NM_006904.6	NP_008835.5:p.(Gly3936Ser)	NC_000008.10:g.48691067C>T	(Likely) benign	1 lab	6e41464ae9
2:179449988 TTN G>A	2	179449988	179449988	G	A	TTN	c.64483C>T	NM_001267550.1	NP_001254479.1:p.(His21495Tyr)	NC_000002.11:g.179449988G>A	VUS	1 lab	6e423b7172
X:52674559 SSX7 T>C	X	52674559	52674559	T	C	SSX7	c.501A>G	NM_173358.2	NP_775494.1:p.(Arg167=)	NC_000023.10:g.52674559T>C	(Likely) benign	1 lab	6e447e6b44
9:134385793 POMT1 C>T	9	134385793	134385793	C	T	POMT1	c.912C>T	NM_007171.3	NP_009102.3:p.(Ala304=)	NC_000009.11:g.134385793C>T	(Likely) benign	1 lab	6e45e22882
9:377075 DOCK8 G>A	9	377075	377075	G	A	DOCK8	c.2304G>A	NM_203447.3	NP_982272.2:p.(Ala768=)	NC_000009.11:g.377075G>A	(Likely) benign	1 lab	6e48d4a52c
16:85688513 GSE1 C>T	16	85688513	85688513	C	T	GSE1	c.713C>T	NM_014615.4	NP_055430.1:p.(Pro238Leu)	NC_000016.9:g.85688513C>T	VUS	1 lab	6e490e1875
1:243468034 SDCCAG8 A>C	1	243468034	243468034	A	C	SDCCAG8	c.791A>C	NM_001350248.1	NP_001337177.1:p.(Tyr264Ser)	NC_000001.10:g.243468034A>C	VUS	1 lab	6e4a4486dd
X:13337302 ATXN3L A>G	X	13337302	13337302	A	G	ATXN3L	c.752T>C	NM_001135995.1	NP_001129467.1:p.(Ile251Thr)	NC_000023.10:g.13337302A>G	VUS	1 lab	6e4a82add9
6:56426171 DST T>G	6	56426171	56426171	T	G	DST	c.7888A>C	NM_001144769.2	NP_001138241.1:p.(Lys2630Gln)	NC_000006.11:g.56426171T>G	(Likely) benign	1 lab	6e4bb0b245
12:88514786 CEP290 T>C	12	88514786	88514786	T	C	CEP290	c.1347A>G	NM_025114.3	NP_079390.3:p.(Lys449=)	NC_000012.11:g.88514786T>C	(Likely) benign	1 lab	6e4d6f9921
16:57687314 ADGRG1 T>TG	16	57687314	57687317	T	TG	ADGRG1	c.620+70dup	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57687317dup	(Likely) benign	1 lab	6e4d714044
20:47568009 ARFGEF2 A>G	20	47568009	47568009	A	G	ARFGEF2	c.423+3A>G	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47568009A>G	VUS	1 lab	6e4ea08795
20:45362452 SLC2A10 C>T	20	45362452	45362452	C	T	SLC2A10	c.1605C>T	NM_030777.3	NP_110404.1:p.(Ile535=)	NC_000020.10:g.45362452C>T	(Likely) benign	1 lab	6e4ed83736
10:43317513 BMS1 G>A	10	43317513	43317513	G	A	BMS1	c.3013G>A	NM_014753.3	NP_055568.3:p.(Asp1005Asn)	NC_000010.10:g.43317513G>A	VUS	1 lab	6e504a3273
X:19387250 MAP3K15 G>T	X	19387250	19387250	G	T	MAP3K15	c.3488C>A	NM_001001671.3	NP_001001671.3:p.(Thr1163Asn)	NC_000023.10:g.19387250G>T	(Likely) benign	1 lab	6e50ae5efd
3:145839032 PLOD2 G>A	3	145839032	145839032	G	A	PLOD2	c.205C>T	NM_182943.2	NP_891988.1:p.(Leu69Phe)	NC_000003.11:g.145839032G>A	VUS	1 lab	6e5168534f
16:88498406 ZNF469 ATGC>A	16	88498406	88498412	ATGC	A	ZNF469	c.4532_4534del	NM_001367624.2	NP_001354553.1:p.(Leu1511del)	NC_000016.9:g.88498410_88498412del	(Likely) benign	1 lab	6e51cf5dbe
6:29641105 MOG G>A	6	29641105	29641105	G	A	MOG				NC_000006.11:g.29641105G>A	(Likely) benign	1 lab	6e52c2c128
18:47455896 MYO5B A>G	18	47455896	47455896	A	G	MYO5B	c.2076T>C	NM_001080467.2	NP_001073936.1:p.(Ala692=)	NC_000018.9:g.47455896A>G	(Likely) benign	1 lab	6e54efa4ea
5:61661138 KIF2A G>A	5	61661138	61661138	G	A	KIF2A	c.1536G>A	NM_001098511.2	NP_001091981.1:p.(Val512=)	NC_000005.9:g.61661138G>A	(Likely) benign	1 lab	6e55e58f91
16:2168340 PKD1 C>T	16	2168340	2168340	C	T	PKD1	c.653G>A	NM_001009944.2	NP_001009944.2:p.(Gly218Asp)	NC_000016.9:g.2168340C>T	(Likely) benign	1 lab	6e57095cc5
2:25469930 DNMT3A TC>T	2	25469930	25469931	TC	T	DNMT3A	c.1111del	NM_022552.5	NP_072046.2:p.(Glu371ArgfsTer36)	NC_000002.11:g.25469931del	(Likely) pathogenic	1 lab	6e586b18d9
5:127648420 FBN2 G>A	5	127648420	127648420	G	A	FBN2	c.4785C>T	NM_001999.3	NP_001990.2:p.(Thr1595=)	NC_000005.9:g.127648420G>A	(Likely) benign	1 lab	6e5900c01e
16:88675444 ZC3H18 G>A	16	88675444	88675444	G	A	ZC3H18	c.1263G>A	NM_001294340.1	NP_001281269.1:p.(Pro421=)	NC_000016.9:g.88675444G>A	(Likely) benign	1 lab	6e5983c026
11:76883797 MYO7A G>A	11	76883797	76883797	G	A	MYO7A	c.1801G>A	NM_000260.3	NP_000251.3:p.(Ala601Thr)	NC_000011.9:g.76883797G>A	VUS	1 lab	6e5aef6bb0
1:92174283 TGFBR3 T>C	1	92174283	92174283	T	C	TGFBR3	c.2224A>G	NM_003243.5	NP_003234.2:p.(Met742Val)	NC_000001.10:g.92174283T>C	VUS	1 lab	f63f39c1e6
17:44060973 MAPT C>G	17	44060973	44060973	C	G	MAPT	c.803C>G	NM_001123066.3	NP_001116538.2:p.(Pro268Arg)	NC_000017.10:g.44060973C>G	VUS	1 lab	6e5bb5aa95
10:115380483 NRAP G>GA	10	115380483	115380496	G	GA	NRAP	c.2770-17dup	NM_001261463.2	NP_001248392.1:p.?	NC_000010.10:g.115380496dup	(Likely) benign	1 lab	f63f43f2f7
7:117246636 CFTR G>A	7	117246636	117246636	G	A	CFTR	c.2909-92G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117246636G>A	(Likely) benign	1 lab	6e5cd1510d
9:139412196 NOTCH1 C>T	9	139412196	139412196	C	T	NOTCH1	c.1441+8G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139412196C>T	(Likely) benign	1 lab	6e5cfd0297
1:39852883 MACF1 C>T	1	39852883	39852883	C	T	MACF1	c.8183C>T	NM_012090.5	NP_036222.3:p.(Ala2728Val)	NC_000001.10:g.39852883C>T	(Likely) benign	1 lab	6e63bdb0b0
X:135751686 ARHGEF6 A>G	X	135751686	135751686	A	G	ARHGEF6	c.2145T>C	NM_004840.2	NP_004831.1:p.(Val715=)	NC_000023.10:g.135751686A>G	(Likely) benign	1 lab	6e64de706d
18:47365553 MYO5B G>A	18	47365553	47365553	G	A	MYO5B	c.4813C>T	NM_001080467.2	NP_001073936.1:p.(Leu1605Phe)	NC_000018.9:g.47365553G>A	VUS	1 lab	6e652fcb05
15:86125018 AKAP13 C>G	15	86125018	86125018	C	G	AKAP13	c.3719C>G	NM_006738.5	NP_006729.4:p.(Pro1240Arg)	NC_000015.9:g.86125018C>G	(Likely) benign	1 lab	6e65f613ef
20:35532618 SAMHD1 C>T	20	35532618	35532618	C	T	SAMHD1	c.1445G>A	NM_015474.3	NP_056289.2:p.(Ser482Asn)	NC_000020.10:g.35532618C>T	(Likely) benign	1 lab	6e66829c2d
16:1396642 BAIAP3 C>T	16	1396642	1396642	C	T	BAIAP3	c.2704C>T	NM_003933.4	NP_003924.2:p.(Leu902=)	NC_000016.9:g.1396642C>T	(Likely) benign	1 lab	6e670e482b
12:40912327 MUC19 G>A	12	40912327	40912327	G	A	MUC19	c.20839G>A	NM_173600.2	NP_775871.2:p.(Ala6947Thr)	NC_000012.11:g.40912327G>A	(Likely) benign	1 lab	6e6983cab8
2:240029875 HDAC4 G>A	2	240029875	240029875	G	A	HDAC4	c.1968C>T	NM_006037.3	NP_006028.2:p.(Leu656=)	NC_000002.11:g.240029875G>A	(Likely) benign	1 lab	6e6ad171e0
X:142795302 SPANXN2 C>T	X	142795302	142795302	C	T	SPANXN2	c.376G>A	NM_001009615.2	NP_001009615.1:p.(Glu126Lys)	NC_000023.10:g.142795302C>T	VUS	1 lab	6e6b83af33
17:73753337 ITGB4 G>T	17	73753337	73753337	G	T	ITGB4	c.5275G>T	NM_000213.5	NP_000204.3:p.(Glu1759Ter)	NC_000017.10:g.73753337G>T	VUS	1 lab	f64a24b2a1
12:7521541 CD163L1 T>C	12	7521541	7521541	T	C	CD163L1	c.4090A>G	NM_001297650.1	NP_001284579.1:p.(Asn1364Asp)	NC_000012.11:g.7521541T>C	VUS	1 lab	6e6cbe493e
2:39187666 MISSING C>T	2	39187666	39187666	C	T	MISSING				NC_000002.11:g.39187666C>T	(Likely) benign	1 lab	6e71eb57c7
1:235564884 TBCE CTG>C	1	235564884	235564889	CTG	C	TBCE	c.171_172del	NM_003193.5	NP_003184.1:p.(Tyr58PhefsTer2)	NC_000001.10:g.235564888_235564889del	(Likely) pathogenic	1 lab	6e72c03cc5
2:29295854 PCARE C>T	2	29295854	29295854	C	T	PCARE	c.1274G>A	NM_001029883.2	NP_001025054.1:p.(Arg425Gln)	NC_000002.11:g.29295854C>T	(Likely) benign	1 lab	6e734aaa04
6:16327835 ATXN1 G>A	6	16327835	16327835	G	A	ATXN1	c.707C>T	NM_000332.3	NP_000323.2:p.(Pro236Leu)	NC_000006.11:g.16327835G>A	VUS	1 lab	6e75c91456
14:31355088 COCH G>A	14	31355088	31355088	G	A	COCH	c.1242G>A	NM_001347720.1	NP_001334649.1:p.(Lys414=)	NC_000014.8:g.31355088G>A	(Likely) benign	1 lab	6e798d776b
9:125864028 RABGAP1 G>A	9	125864028	125864028	G	A	RABGAP1	c.3073G>A	NM_012197.4	NP_036329.3:p.(Glu1025Lys)	NC_000009.11:g.125864028G>A	VUS	1 lab	6e7a796ed6
17:29654514 NF1 C>G	17	29654514	29654514	C	G	NF1	c.5206-3C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654514C>G	(Likely) pathogenic	1 lab	6e7c2ea1e6
10:134680968 CFAP46 G>C	10	134680968	134680968	G	C	CFAP46	c.4654C>G	NM_001200049.3	NP_001186978.2:p.(Pro1552Ala)	NC_000010.10:g.134680968G>C	VUS	1 lab	6e7d22118d
7:35280617 TBX20 T>C	7	35280617	35280617	T	C	TBX20	c.687A>G	NM_001077653.2	NP_001071121.1:p.(Pro229=)	NC_000007.13:g.35280617T>C	(Likely) benign	1 lab	6e7dc1b44a
15:43250212 UBR1 T>C	15	43250212	43250212	T	C	UBR1	c.4834A>G	NM_174916.2	NP_777576.1:p.(Arg1612Gly)	NC_000015.9:g.43250212T>C	(Likely) benign	1 lab	6e80454126
16:2112650 TSC2 CTCTG>C	16	2112650	2112658	CTCTG	C	TSC2	c.1361+54_1361+57del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112655_2112658del	(Likely) benign	1 lab	6e8066532c
19:9076886 MUC16 T>C	19	9076886	9076886	T	C	MUC16	c.10560A>G	NM_024690.2	NP_078966.2:p.(Ser3520=)	NC_000019.9:g.9076886T>C	(Likely) benign	1 lab	6e829bb3fb
8:22865533 RHOBTB2 C>T	8	22865533	22865533	C	T	RHOBTB2	c.1529C>T	NM_015178.2	NP_055993.2:p.(Thr510Ile)	NC_000008.10:g.22865533C>T	VUS	1 lab	6e8686f402
7:47854949 PKD1L1 G>A	7	47854949	47854949	G	A	PKD1L1	c.7072C>T	NM_138295.4	NP_612152.1:p.(Arg2358Cys)	NC_000007.13:g.47854949G>A	(Likely) benign	1 lab	6e86932eba
9:90744549 SPATA31C2 A>G	9	90744549	90744549	A	G	SPATA31C2	c.3403T>C	NM_001350978.1	NP_001337907.1:p.(Ter1135GlnextTer48)	NC_000009.11:g.90744549A>G	VUS	1 lab	6e8772e22c
17:29654752 NF1 A>G	17	29654752	29654752	A	G	NF1	c.5441A>G	NM_000267.3	NP_000258.1:p.(Gln1814Arg)	NC_000017.10:g.29654752A>G	VUS	1 lab	6e87c0814c
1:236154286 NID1 C>G	1	236154286	236154286	C	G	NID1	c.2828G>C	NM_002508.2	NP_002499.2:p.(Gly943Ala)	NC_000001.10:g.236154286C>G	VUS	1 lab	6e884b78a7
12:32884358 DNM1L T>A	12	32884358	32884358	T	A	DNM1L	c.1308T>A	NM_001278464.1	NP_001265393.1:p.(Arg436=)	NC_000012.11:g.32884358T>A	(Likely) benign	1 lab	6e893d1958
7:147869512 CNTNAP2 C>A	7	147869512	147869512	C	A	CNTNAP2	c.2952C>A	NM_014141.5	NP_054860.1:p.(Tyr984Ter)	NC_000007.13:g.147869512C>A	(Likely) pathogenic	1 lab	6e8b380051
12:122676103 LRRC43 G>A	12	122676103	122676103	G	A	LRRC43	c.1078G>A	NM_001098519.2	NP_001091989.1:p.(Val360Ile)	NC_000012.11:g.122676103G>A	(Likely) benign	1 lab	6e8bc4ae65
X:73962072 NEXMIF A>G	X	73962072	73962072	A	G	NEXMIF	c.2320T>C	NM_001008537.2	NP_001008537.1:p.(Ser774Pro)	NC_000023.10:g.73962072A>G	(Likely) benign	1 lab	6e8c2caf55
5:14388736 TRIO A>G	5	14388736	14388736	A	G	TRIO	c.3896A>G	NM_007118.3	NP_009049.2:p.(Glu1299Gly)	NC_000005.9:g.14388736A>G	VUS	1 lab	6e8dafd98a
X:153761240 G6PD A>G	X	153761240	153761240	A	G	G6PD	c.1058T>C	NM_000402.4	NP_000393.4:p.(Leu353Pro)	NC_000023.10:g.153761240A>G	VUS	1 lab	6e8ee5ac6e
X:22051182 PHEX G>A	X	22051182	22051182	G	A	PHEX	c.59G>A	NM_000444.5	NP_000435.3:p.(Arg20Gln)	NC_000023.10:g.22051182G>A	(Likely) benign	1 lab	6e908768f7
3:52426510 DNAH1 A>G	3	52426510	52426510	A	G	DNAH1	c.10083A>G	NM_015512.4	NP_056327.4:p.(Val3361=)	NC_000003.11:g.52426510A>G	(Likely) benign	1 lab	6e91e706b3
2:135809899 RAB3GAP1 A>G	2	135809899	135809899	A	G	RAB3GAP1	c.18+4A>G	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135809899A>G	VUS	1 lab	6e94a99f85
15:74473658 STRA6 C>T	15	74473658	74473658	C	T	STRA6	c.1779G>A	NM_001199042.1	NP_001185971.1:p.(Pro593=)	NC_000015.9:g.74473658C>T	(Likely) benign	1 lab	6e959062cb
1:216465706 USH2A G>A	1	216465706	216465706	G	A	USH2A	c.1651C>T	NM_206933.2	NP_996816.2:p.(Arg551Cys)	NC_000001.10:g.216465706G>A	VUS	1 lab	6e98286d1b
7:2952980 CARD11 G>T	7	2952980	2952980	G	T	CARD11	c.2960C>A	NM_001324281.1	NP_001311210.1:p.(Thr987Lys)	NC_000007.13:g.2952980G>T	VUS	1 lab	6e986e3fff
9:137717707 COL5A1 C>A	9	137717707	137717707	C	A	COL5A1	c.5024C>A	NM_000093.4	NP_000084.3:p.(Ala1675Asp)	NC_000009.11:g.137717707C>A	VUS	1 lab	6e9c7bbc5f
15:43044698 TTBK2 G>T	15	43044698	43044698	G	T	TTBK2	c.2746C>A	NM_173500.3	NP_775771.3:p.(Leu916Ile)	NC_000015.9:g.43044698G>T	(Likely) benign	1 lab	6e9d1328a9
16:88502896 ZNF469 C>T	16	88502896	88502896	C	T	ZNF469				NC_000016.9:g.88502896C>T	(Likely) benign	1 lab	6e9f201883
10:73052245 UNC5B A>G	10	73052245	73052245	A	G	UNC5B	c.1673A>G	NM_001244889.1	NP_001231818.1:p.(Asn558Ser)	NC_000010.10:g.73052245A>G	(Likely) benign	1 lab	6ea0a83bb7
17:40261336 DHX58 G>A	17	40261336	40261336	G	A	DHX58	c.630C>T	NM_024119.3	NP_077024.2:p.(His210=)	NC_000017.10:g.40261336G>A	(Likely) benign	1 lab	6ea15fd53e
1:168160608 TIPRL T>A	1	168160608	168160608	T	A	TIPRL	c.386T>A	NM_152902.5	NP_690866.1:p.(Val129Asp)	NC_000001.10:g.168160608T>A	VUS	1 lab	6ea2f8c4d2
2:144899579 QTMAN C>A	2	144899579	144899579	C	A	QTMAN	c.4G>T	NM_001354351.1	NP_001341280.1:p.(Glu2Ter)	NC_000002.11:g.144899579C>A	VUS	1 lab	6ea31b0e56
11:45827697 SLC35C1 C>T	11	45827697	45827697	C	T	SLC35C1	c.345C>T	NM_018389.4	NP_060859.4:p.(Arg115=)	NC_000011.9:g.45827697C>T	(Likely) benign	1 lab	6ea55ae8d3
2:48033792 MSH6 T>TAACTA	2	48033792	48033798	T	TAACTA	MSH6	c.4001+4_4001+8dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033794_48033798dup	(Likely) benign	1 lab	6ea5cfe793
16:84211399 DNAAF1 T>C	16	84211399	84211399	T	C	DNAAF1	c.2130T>C	NM_178452.5	NP_848547.4:p.(Ala710=)	NC_000016.9:g.84211399T>C	(Likely) benign	1 lab	6eaa465ad2
8:22020679 SFTPC C>T	8	22020679	22020679	C	T	SFTPC	c.288C>T	NM_003018.3	NP_003009.2:p.(Ile96=)	NC_000008.10:g.22020679C>T	(Likely) benign	1 lab	6eaa768323
15:63958150 HERC1 A>G	15	63958150	63958150	A	G	HERC1	c.8523T>C	NM_003922.3	NP_003913.3:p.(Asp2841=)	NC_000015.9:g.63958150A>G	(Likely) benign	1 lab	6eaadeacfe
2:197784874 PGAP1 T>C	2	197784874	197784874	T	C	PGAP1	c.148A>G	NM_024989.3	NP_079265.2:p.(Lys50Glu)	NC_000002.11:g.197784874T>C	VUS	1 lab	6eab2f18ff
1:23419855 LUZP1 T>C	1	23419855	23419855	T	C	LUZP1	c.900A>G	NM_033631.3	NP_361013.3:p.(Thr300=)	NC_000001.10:g.23419855T>C	(Likely) benign	1 lab	6eab7ef082
4:41262732 UCHL1 C>T	4	41262732	41262732	C	T	UCHL1	c.243C>T	NM_004181.4	NP_004172.2:p.(Phe81=)	NC_000004.11:g.41262732C>T	(Likely) benign	1 lab	6eac93b5d7
X:49070329 CACNA1F C>T	X	49070329	49070329	C	T	CACNA1F	c.3775G>A	NM_005183.3	NP_005174.2:p.(Ala1259Thr)	NC_000023.10:g.49070329C>T	(Likely) benign	1 lab	6ead3555fe
3:10191460 VHL T>A	3	10191460	10191460	T	A	VHL	c.464-11T>A	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10191460T>A	(Likely) pathogenic	1 lab	6eadeedaf3
2:174224132 CDCA7 C>T	2	174224132	174224132	C	T	CDCA7	c.297C>T	NM_031942.4	NP_114148.3:p.(Val99=)	NC_000002.11:g.174224132C>T	(Likely) benign	1 lab	6eae90e64e
19:5151395 KDM4B C>T	19	5151395	5151395	C	T	KDM4B	c.3164C>T	NM_015015.3	NP_055830.1:p.(Ala1055Val)	NC_000019.9:g.5151395C>T	(Likely) benign	1 lab	6eafa9df35
6:70976482 COL9A1 T>C	6	70976482	70976482	T	C	COL9A1	c.1288-9A>G	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70976482T>C	(Likely) benign	1 lab	6eb182cdf8
5:90021461 ADGRV1 C>T	5	90021461	90021461	C	T	ADGRV1	c.10149C>T	NM_032119.4	NP_115495.3:p.(Ser3383=)	NC_000005.9:g.90021461C>T	(Likely) benign	1 lab	6eb1a03cd5
7:99490305 TRIM4 G>C	7	99490305	99490305	G	C	TRIM4	c.984C>G	NM_033017.4	NP_148977.2:p.(Tyr328Ter)	NC_000007.13:g.99490305G>C	VUS	1 lab	f6584ce296
17:1637480 WDR81 G>A	17	1637480	1637480	G	A	WDR81	c.5149G>A	NM_001163809.1	NP_001157281.1:p.(Gly1717Arg)	NC_000017.10:g.1637480G>A	VUS	1 lab	6eb2710264
1:237659979 RYR2 C>T	1	237659979	237659979	C	T	RYR2	c.2130C>T	NM_001035.2	NP_001026.2:p.(Gly710=)	NC_000001.10:g.237659979C>T	(Likely) benign	1 lab	6eb35428c2
9:98997830 HSD17B3 G>A	9	98997830	98997830	G	A	HSD17B3	c.845C>T	NM_000197.2	NP_000188.1:p.(Pro282Leu)	NC_000009.11:g.98997830G>A	(Likely) pathogenic	1 lab	6eb35e08ba
X:115582826 SLC6A14 G>C	X	115582826	115582826	G	C	SLC6A14	c.1150G>C	NM_007231.4	NP_009162.1:p.(Val384Leu)	NC_000023.10:g.115582826G>C	VUS	1 lab	6eb403e581
X:153217351 HCFC1 T>C	X	153217351	153217351	T	C	HCFC1	c.5201A>G	NM_005334.2	NP_005325.2:p.(Asn1734Ser)	NC_000023.10:g.153217351T>C	(Likely) benign	1 lab	6eb59febd4
1:201972454 RNPEP G>GAAGAGCTAGCCC	1	201972454	201972468	G	GAAGAGCTAGCCC	RNPEP	c.649_660dup	NM_001319183.1	NP_001306112.1:p.(Glu217_Gln220dup)	NC_000001.10:g.201972457_201972468dup	VUS	1 lab	6eb5d7f972
19:871158 MED16 G>A	19	871158	871158	G	A	MED16	c.2194C>T	NM_005481.3	NP_005472.2:p.(Leu732=)	NC_000019.9:g.871158G>A	(Likely) benign	1 lab	6eb6080b4a
20:62848535 MYT1 G>A	20	62848535	62848535	G	A	MYT1	c.1747G>A	NM_004535.3	NP_004526.1:p.(Val583Ile)	NC_000020.10:g.62848535G>A	VUS	1 lab	6eb6cfabfc
1:227170704 COQ8A A>G	1	227170704	227170704	A	G	COQ8A	c.1049A>G	NM_020247.4	NP_064632.2:p.(Lys350Arg)	NC_000001.10:g.227170704A>G	(Likely) benign	1 lab	6eb8c17950
14:31611095 HECTD1 T>C	14	31611095	31611095	T	C	HECTD1	c.2842A>G	NM_015382.4	NP_056197.3:p.(Thr948Ala)	NC_000014.8:g.31611095T>C	(Likely) benign	1 lab	6eb9608c1f
21:47641789 LSS G>A	21	47641789	47641789	G	A	LSS	c.529C>T	NM_002340.6	NP_002331.3:p.(Arg177Trp)	NC_000021.8:g.47641789G>A	VUS	1 lab	6eb97e4125
19:36214651 KMT2B C>T	19	36214651	36214651	C	T	KMT2B	c.3077C>T	NM_014727.2	NP_055542.1:p.(Thr1026Met)	NC_000019.9:g.36214651C>T	VUS	1 lab	6eb99cce9f
18:34232781 FHOD3 T>C	18	34232781	34232781	T	C	FHOD3	c.1535T>C	NM_001281740.2	NP_001268669.1:p.(Ile512Thr)	NC_000018.9:g.34232781T>C	VUS	1 lab	6ebaa28bf6
12:124242458 ATP6V0A2 CT>C	12	124242458	124242471	CT	C	ATP6V0A2	c.2466-3del	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124242471del	(Likely) benign	1 lab	6ebb977162
15:62241649 VPS13C GACAGCGA>G	15	62241649	62241656	GACAGCGA	G	VPS13C	c.4745_4751del	NM_020821.3	NP_065872.1:p.(Ile1582ThrfsTer16)	NC_000015.9:g.62241650_62241656del	VUS	1 lab	6ebb97ec2f
2:179399657 TTN T>C	2	179399657	179399657	T	C	TTN	c.101685A>G	NM_001267550.1	NP_001254479.1:p.(Ile33895Met)	NC_000002.11:g.179399657T>C	VUS	1 lab	6ebc1aaa65
X:22151682 PHEX A>G	X	22151682	22151682	A	G	PHEX	c.1345A>G	NM_000444.5	NP_000435.3:p.(Met449Val)	NC_000023.10:g.22151682A>G	(Likely) benign	1 lab	6ebcb34999
11:108106457 ATM C>T	11	108106457	108106457	C	T	ATM	c.392C>T	NM_000051.4	NP_000042.3:p.(Ser131Leu)	NC_000011.9:g.108106457C>T	VUS	1 lab	f65c839e1d
X:119681020 CUL4B G>A	X	119681020	119681020	G	A	CUL4B	c.801C>T	NM_003588.3	NP_003579.3:p.(His267=)	NC_000023.10:g.119681020G>A	(Likely) benign	1 lab	6ebef87bfa
10:102782101 PDZD7 C>T	10	102782101	102782101	C	T	PDZD7	c.584G>A	NM_001195263.1	NP_001182192.1:p.(Gly195Asp)	NC_000010.10:g.102782101C>T	VUS	1 lab	6ebf0e5136
11:111959733 SDHD C>T	11	111959733	111959733	C	T	SDHD	c.312C>T	NM_001276506.1	NP_001263435.1:p.(His104=)	NC_000011.9:g.111959733C>T	(Likely) benign	1 lab	6ec1d19477
16:88498149 ZNF469 C>A	16	88498149	88498149	C	A	ZNF469				NC_000016.9:g.88498149C>A	VUS	1 lab	6ec3c4807c
11:108380479 EXPH5 G>C	11	108380479	108380479	G	C	EXPH5	c.5755C>G	NM_015065.3	NP_055880.2:p.(Pro1919Ala)	NC_000011.9:g.108380479G>C	VUS	1 lab	6ec4c0ad60
8:144994521 PLEC G>A	8	144994521	144994521	G	A	PLEC	c.9879C>T	NM_201380.3	NP_958782.1:p.(Val3293=)	NC_000008.10:g.144994521G>A	(Likely) benign	1 lab	6ec52aa449
13:32340164 RXFP2 T>C	13	32340164	32340164	T	C	RXFP2	c.497T>C	NM_130806.4	NP_570718.1:p.(Ile166Thr)	NC_000013.10:g.32340164T>C	VUS	1 lab	6ec59956fe
4:126355484 FAT4 C>A	4	126355484	126355484	C	A	FAT4	c.7103C>A	NM_001291303.1	NP_001278232.1:p.(Ala2368Glu)	NC_000004.11:g.126355484C>A	VUS	1 lab	6ec86b021f
X:12840856 PRPS2 A>G	X	12840856	12840856	A	G	PRPS2	c.907A>G	NM_001039091.2	NP_001034180.1:p.(Ile303Val)	NC_000023.10:g.12840856A>G	(Likely) benign	1 lab	6ec88e67c3
14:45645300 FANCM A>G	14	45645300	45645300	A	G	FANCM	c.3343A>G	NM_020937.2	NP_065988.1:p.(Asn1115Asp)	NC_000014.8:g.45645300A>G	(Likely) benign	1 lab	6ec8bee37a
2:179428754 TTN T>G	2	179428754	179428754	T	G	TTN	c.82105A>C	NM_001267550.2	NP_001254479.2:p.(Arg27369=)	NC_000002.11:g.179428754T>G	(Likely) benign	1 lab	f65e11f9ef
6:35277495 DEF6 G>A	6	35277495	35277495	G	A	DEF6	c.145G>A	NM_022047.4	NP_071330.3:p.(Val49Met)	NC_000006.11:g.35277495G>A	VUS	1 lab	6ecb452afd
3:48679816 CELSR3 G>A	3	48679816	48679816	G	A	CELSR3	c.8640C>T	NM_001407.2	NP_001398.2:p.(Asp2880=)	NC_000003.11:g.48679816G>A	(Likely) benign	1 lab	6ecc34538e
X:150907016 CNGA2 C>A	X	150907016	150907016	C	A	CNGA2	c.61C>A	NM_005140.1	NP_005131.1:p.(Pro21Thr)	NC_000023.10:g.150907016C>A	VUS	1 lab	6ecc3af94d
16:57685388 ADGRG1 A>G	16	57685388	57685388	A	G	ADGRG1	c.341A>G	NM_001145772.2	NP_001139244.1:p.(Asp114Gly)	NC_000016.9:g.57685388A>G	(Likely) benign	1 lab	6ecc671431
X:38240555 OTC G>GT	X	38240555	38240561	G	GT	OTC	c.299-34dup	NM_000531.5	NP_000522.3:p.?	NC_000023.10:g.38240561dup	(Likely) benign	1 lab	6ecc9e22b1
17:7579588 TP53 G>A	17	7579588	7579588	G	A	TP53	c.99C>T	NM_001126114.2	NP_001119586.1:p.(Ser33=)	NC_000017.10:g.7579588G>A	(Likely) benign	1 lab	6ecd27cedf
16:81944286 PLCG2 C>A	16	81944286	81944286	C	A	PLCG2	c.1895C>A	NM_002661.3	NP_002652.2:p.(Thr632Lys)	NC_000016.9:g.81944286C>A	VUS	1 lab	6ecd872088
3:58121866 FLNB C>T	3	58121866	58121866	C	T	FLNB	c.4925C>T	NM_001164317.1	NP_001157789.1:p.(Thr1642Met)	NC_000003.11:g.58121866C>T	VUS	1 lab	6ecf004c84
X:9716691 GPR143 A>G	X	9716691	9716691	A	G	GPR143	c.471T>C	NM_000273.2	NP_000264.2:p.(Tyr157=)	NC_000023.10:g.9716691A>G	(Likely) benign	1 lab	6ed0352374
7:42088284 GLI3 A>T	7	42088284	42088284	A	T	GLI3	c.485T>A	NM_000168.5	NP_000159.3:p.(Leu162Ter)	NC_000007.13:g.42088284A>T	(Likely) pathogenic	1 lab	6ed12444b4
X:70367881 NLGN3 G>A	X	70367881	70367881	G	A	NLGN3	c.282G>A	NM_181303.1	NP_851820.1:p.(Ser94=)	NC_000023.10:g.70367881G>A	(Likely) benign	1 lab	6ed14b8a3e
17:16527369 ZNF624 T>C	17	16527369	16527369	T	C	ZNF624	c.831A>G	NM_020787.4	NP_065838.2:p.(Lys277=)	NC_000017.10:g.16527369T>C	(Likely) benign	1 lab	6ed3c040e0
1:207133908 FCAMR C>T	1	207133908	207133908	C	T	FCAMR	c.1313G>A	NM_001170631.2	NP_001164102.1:p.(Ser438Asn)	NC_000001.10:g.207133908C>T	VUS	1 lab	6ed4d3b206
16:85701942 GSE1 T>A	16	85701942	85701942	T	A	GSE1	c.3327T>A	NM_014615.4	NP_055430.1:p.(Asp1109Glu)	NC_000016.9:g.85701942T>A	(Likely) benign	1 lab	6ed50b5c82
6:152545706 SYNE1 C>T	6	152545706	152545706	C	T	SYNE1	c.21445G>A	NM_182961.3	NP_892006.3:p.(Ala7149Thr)	NC_000006.11:g.152545706C>T	VUS	1 lab	6ed59d18c4
2:1670092 PXDN G>A	2	1670092	1670092	G	A	PXDN	c.1185C>T	NM_012293.2	NP_036425.1:p.(Gly395=)	NC_000002.11:g.1670092G>A	VUS	1 lab	6ed6060e37
12:69119538 NUP107 A>G	12	69119538	69119538	A	G	NUP107	c.1538A>G	NM_020401.4	NP_065134.1:p.(His513Arg)	NC_000012.11:g.69119538A>G	VUS	1 lab	f65f062db4
20:39990011 EMILIN3 C>T	20	39990011	39990011	C	T	EMILIN3	c.2198G>A	NM_052846.2	NP_443078.1:p.(Arg733His)	NC_000020.10:g.39990011C>T	(Likely) benign	1 lab	6ed7de0268
7:82583155 PCLO GT>G	7	82583155	82583160	GT	G	PCLO	c.7113del	NM_033026.6	NP_149015.2:p.(Lys2371AsnfsTer73)	NC_000007.13:g.82583160del	VUS	1 lab	6ed9153c8f
15:23891244 MAGEL2 G>A	15	23891244	23891244	G	A	MAGEL2	c.1646C>T	NM_019066.4	NP_061939.3:p.(Thr549Met)	NC_000015.9:g.23891244G>A	(Likely) benign	1 lab	6edad2bd34
9:135797273 TSC1 AAGT>A	9	135797273	135797276	AAGT	A	TSC1	c.593_595del	NM_000368.5	NP_000359.1:p.(Asn198_Phe199delinsIle)	NC_000009.11:g.135797274_135797276del	(Likely) pathogenic	1 lab	6edb23ad24
22:26351296 MYO18B G>A	22	26351296	26351296	G	A	MYO18B	c.6125G>A	NM_001318245.1	NP_001305174.1:p.(Arg2042Gln)	NC_000022.10:g.26351296G>A	VUS	1 lab	6edb6f80fc
5:148389867 SH3TC2 G>A	5	148389867	148389867	G	A	SH3TC2	c.3293C>T	NM_024577.3	NP_078853.2:p.(Thr1098Ile)	NC_000005.9:g.148389867G>A	VUS	1 lab	6edc67f15c
5:37183491 CPLANE1 T>C	5	37183491	37183491	T	C	CPLANE1	c.4792A>G	NM_023073.3	NP_075561.3:p.(Thr1598Ala)	NC_000005.9:g.37183491T>C	VUS	1 lab	6edc7bae11
1:161761235 ATF6 C>T	1	161761235	161761235	C	T	ATF6	c.392C>T	NM_007348.3	NP_031374.2:p.(Pro131Leu)	NC_000001.10:g.161761235C>T	VUS	1 lab	6edd0c3dcf
15:63336337 TPM1 A>C	15	63336337	63336337	A	C	TPM1	c.240+307A>C	NM_001018020.1	NP_001018020.1:p.?	NC_000015.9:g.63336337A>C	VUS	1 lab	6edea48118
8:142459746 MROH5 C>T	8	142459746	142459746	C	T	MROH5	c.2581G>A	NM_207414.2	NP_997297.2:p.(Gly861Ser)	NC_000008.10:g.142459746C>T	VUS	1 lab	6ee1343f2f
11:108098561 ATM A>G	11	108098561	108098561	A	G	ATM	c.131A>G	NM_000051.3	NP_000042.3:p.(Asp44Gly)	NC_000011.9:g.108098561A>G	VUS	1 lab	6ee1ff6c9a
11:6651527 DCHS1 C>T	11	6651527	6651527	C	T	DCHS1				NC_000011.9:g.6651527C>T	(Likely) benign	1 lab	6ee24af204
6:74325037 SLC17A5 C>T	6	74325037	74325037	C	T	SLC17A5	c.1111+1G>A	NM_012434.4	NP_036566.1:p.?	NC_000006.11:g.74325037C>T	(Likely) pathogenic	1 lab	6ee25bb51d
3:133661483 SLCO2A1 T>G	3	133661483	133661483	T	G	SLCO2A1	c.1591A>C	NM_005630.3	NP_005621.2:p.(Ile531Leu)	NC_000003.11:g.133661483T>G	VUS	1 lab	f66871cafc
2:166915177 SCN1A C>G	2	166915177	166915177	C	G	SCN1A	c.286G>C	NM_001165963.2	NP_001159435.1:p.(Gly96Arg)	NC_000002.11:g.166915177C>G	VUS	1 lab	6ee3d41c45
10:102770105 PDZD7 C>T	10	102770105	102770105	C	T	PDZD7	c.2541G>A	NM_001195263.1	NP_001182192.1:p.(Thr847=)	NC_000010.10:g.102770105C>T	(Likely) benign	1 lab	6ee4e20d12
6:112441569 LAMA4 G>C	6	112441569	112441569	G	C	LAMA4	c.4582C>G	NM_001105206.3	NP_001098676.2:p.(Arg1528Gly)	NC_000006.11:g.112441569G>C	VUS	1 lab	f66ab6b7ee
21:46900700 COL18A1 C>T	21	46900700	46900700	C	T	COL18A1	c.2784C>T	NM_130444.3	NP_569711.2:p.(Ser928=)	NC_000021.8:g.46900700C>T	(Likely) benign	1 lab	6ee68c4c9c
2:20175364 WDR35 G>T	2	20175364	20175364	G	T	WDR35	c.497C>A	NM_001006657.1	NP_001006658.1:p.(Ala166Glu)	NC_000002.11:g.20175364G>T	VUS	1 lab	6ee77640e4
4:6037771 JAKMIP1 C>T	4	6037771	6037771	C	T	JAKMIP1	c.2239G>A	NM_001099433.1	NP_001092903.1:p.(Gly747Ser)	NC_000004.11:g.6037771C>T	(Likely) benign	1 lab	6ee98173b0
6:10764798 MAK C>G	6	10764798	10764798	C	G	MAK	c.1834G>C	NM_001242957.2	NP_001229886.1:p.(Gly612Arg)	NC_000006.11:g.10764798C>G	(Likely) benign	1 lab	6eea0f0662
22:26219612 MYO18B C>T	22	26219612	26219612	C	T	MYO18B	c.2662C>T	NM_032608.7	NP_115997.5:p.(Arg888Ter)	NC_000022.10:g.26219612C>T	(Likely) pathogenic	1 lab	f66cc8ec71
11:62289348 AHNAK C>T	11	62289348	62289348	C	T	AHNAK	c.12541G>A	NM_001620.3	NP_001611.1:p.(Gly4181Ser)	NC_000011.9:g.62289348C>T	VUS	1 lab	f66cd0ae15
8:144997929 PLEC G>A	8	144997929	144997929	G	A	PLEC	c.6579C>T	NM_201380.3	NP_958782.1:p.(Phe2193=)	NC_000008.10:g.144997929G>A	(Likely) benign	1 lab	6eed4b731a
11:124791248 HEPACAM A>G	11	124791248	124791248	A	G	HEPACAM	c.1037T>C	NM_152722.5	NP_689935.2:p.(Val346Ala)	NC_000011.9:g.124791248A>G	VUS	1 lab	f66d50a136
22:36688239 MYH9 G>A	22	36688239	36688239	G	A	MYH9	c.4137C>T	NM_002473.5	NP_002464.1:p.(Cys1379=)	NC_000022.10:g.36688239G>A	VUS	1 lab	6eee7e6aba
X:152956784 SLC6A8 C>T	X	152956784	152956784	C	T	SLC6A8	c.420C>T	NM_005629.3	NP_005620.1:p.(Ile140=)	NC_000023.10:g.152956784C>T	VUS	1 lab	6eeec0c49f
3:77611844 ROBO2 A>G	3	77611844	77611844	A	G	ROBO2	c.1492A>G	NM_001290040.1	NP_001276969.1:p.(Ser498Gly)	NC_000003.11:g.77611844A>G	(Likely) benign	1 lab	6eeee29695
17:29548926 NF1 T>TA	17	29548926	29548927	T	TA	NF1	c.1701dup	NM_000267.3	NP_000258.1:p.(Glu568ArgfsTer7)	NC_000017.10:g.29548927dup	(Likely) pathogenic	1 lab	6eef4d6ecb
X:153184614 ARHGAP4 T>C	X	153184614	153184614	T	C	ARHGAP4	c.925A>G	NM_001164741.1	NP_001158213.1:p.(Met309Val)	NC_000023.10:g.153184614T>C	VUS	1 lab	6eefc9b276
19:11311581 DOCK6 G>A	19	11311581	11311581	G	A	DOCK6	c.5832+4C>T	NM_020812.3	NP_065863.2:p.?	NC_000019.9:g.11311581G>A	(Likely) benign	1 lab	6ef09bb150
17:7915488 GUCY2D G>C	17	7915488	7915488	G	C	GUCY2D	c.1776G>C	NM_000180.3	NP_000171.1:p.(Val592=)	NC_000017.10:g.7915488G>C	(Likely) benign	1 lab	6ef0b324d7
10:69948749 MYPN G>A	10	69948749	69948749	G	A	MYPN	c.1909G>A	NM_001256268.1	NP_001243197.1:p.(Glu637Lys)	NC_000010.10:g.69948749G>A	VUS	1 lab	6ef228e05b
11:95583026 MTMR2 C>CTGGGATACGGCCT	11	95583026	95583027	C	CTGGGATACGGCCT	MTMR2	c.589-1_589insAGGCCGTATCCCA	NM_001243571.1	NP_001230500.1:p.?	NC_000011.9:g.95583026_95583027insTGGGATACGGCCT	VUS	1 lab	6ef263c3f2
11:1269155 MUC5B C>T	11	1269155	1269155	C	T	MUC5B	c.11045C>T	NM_002458.2	NP_002449.2:p.(Thr3682Met)	NC_000011.9:g.1269155C>T	VUS	1 lab	6ef303b375
19:49494551 GYS1 C>T	19	49494551	49494551	C	T	GYS1	c.300+8G>A	NM_002103.4	NP_002094.2:p.?	NC_000019.9:g.49494551C>T	(Likely) benign	1 lab	6ef316a9fb
11:17660069 OTOG G>A	11	17660069	17660069	G	A	OTOG	c.7903G>A	NM_001277269.1	NP_001264198.1:p.(Asp2635Asn)	NC_000011.9:g.17660069G>A	(Likely) benign	1 lab	6ef3266138
8:48874880 MCM4 A>G	8	48874880	48874880	A	G	MCM4	c.415A>G	NM_005914.4	NP_005905.2:p.(Ile139Val)	NC_000008.10:g.48874880A>G	(Likely) benign	1 lab	6ef37b558c
3:18427962 SATB1 T>A	3	18427962	18427962	T	A	SATB1	c.1348A>T	NM_001195470.3	NP_001182399.1:p.(Arg450Trp)	NC_000003.11:g.18427962T>A	VUS	1 lab	f66e96934d
10:73454024 CDH23 C>T	10	73454024	73454024	C	T	CDH23	c.2289+8C>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73454024C>T	(Likely) benign	1 lab	6ef4368dfd
20:30956937 ASXL1 T>C	20	30956937	30956937	T	C	ASXL1	c.252+11T>C	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.30956937T>C	(Likely) benign	1 lab	6ef50b4d1f
19:21607128 ZNF493 G>A	19	21607128	21607128	G	A	ZNF493	c.1667G>A	NM_001076678.2	NP_001070146.1:p.(Arg556Gln)	NC_000019.9:g.21607128G>A	(Likely) benign	1 lab	6ef50ea1a7
19:45912917 ERCC1 T>C	19	45912917	45912917	T	C	ERCC1	c.*16A>G	NM_001983.3	NP_001974.1:p.?	NC_000019.9:g.45912917T>C	(Likely) benign	1 lab	6ef5baa78f
1:227152761 COQ8A C>T	1	227152761	227152761	C	T	COQ8A	c.238C>T	NM_020247.4	NP_064632.2:p.(His80Tyr)	NC_000001.10:g.227152761C>T	(Likely) benign	1 lab	6ef6968ed2
3:71021166 FOXP1 C>T	3	71021166	71021166	C	T	FOXP1	c.1696G>A	NM_001244810.1	NP_001231739.1:p.(Ala566Thr)	NC_000003.11:g.71021166C>T	(Likely) benign	1 lab	6ef742bd93
6:42946490 PEX6 C>A	6	42946490	42946490	C	A	PEX6	c.399G>T	NM_000287.4	NP_000278.3:p.(Val133=)	NC_000006.11:g.42946490C>A	(Likely) benign	1 lab	f66f6b3eba
19:7518524 ARHGEF18 G>A	19	7518524	7518524	G	A	ARHGEF18	c.2027G>A	NM_001367823.1	NP_001354752.1:p.(Arg676His)	NC_000019.9:g.7518524G>A	VUS	1 lab	6ef8b4e405
8:10480645 RP1L1 G>A	8	10480645	10480645	G	A	RP1L1	c.67C>T	NM_178857.5	NP_849188.4:p.(Arg23Cys)	NC_000008.10:g.10480645G>A	VUS	1 lab	6efbc24973
22:38119214 TRIOBP C>T	22	38119214	38119214	C	T	TRIOBP	c.651C>T	NM_001039141.2	NP_001034230.1:p.(Ser217=)	NC_000022.10:g.38119214C>T	(Likely) benign	1 lab	6efc461b2e
1:207925572 CD46 C>A	1	207925572	207925572	C	A	CD46	c.15C>A	NM_002389.4	NP_002380.3:p.(Gly5=)	NC_000001.10:g.207925572C>A	(Likely) benign	1 lab	6efc49c8e5
5:13721296 DNAH5 T>C	5	13721296	13721296	T	C	DNAH5	c.12092A>G	NM_001369.2	NP_001360.1:p.(Asp4031Gly)	NC_000005.9:g.13721296T>C	VUS	1 lab	6efc715b31
16:771374 ANTKMT GC>G	16	771374	771376	GC	G	ANTKMT	c.102del	NM_023933.3	NP_076422.1:p.(Tyr35ThrfsTer72)	NC_000016.9:g.771376del	VUS	1 lab	6efcff9629
X:47307433 ZNF41 T>C	X	47307433	47307433	T	C	ZNF41	c.1736A>G	NM_007130.3	NP_009061.1:p.(Tyr579Cys)	NC_000023.10:g.47307433T>C	VUS	1 lab	6efd705236
8:100830019 VPS13B C>T	8	100830019	100830019	C	T	VPS13B	c.8424C>T	NM_017890.4	NP_060360.3:p.(Ser2808=)	NC_000008.10:g.100830019C>T	(Likely) benign	1 lab	6eff653779
14:50100796 DNAAF2 C>G	14	50100796	50100796	C	G	DNAAF2	c.1072G>C	NM_018139.2	NP_060609.2:p.(Ala358Pro)	NC_000014.8:g.50100796C>G	VUS	1 lab	6eff67b349
1:175375565 TNR C>T	1	175375565	175375565	C	T	TNR	c.286G>A	NM_003285.2	NP_003276.3:p.(Glu96Lys)	NC_000001.10:g.175375565C>T	(Likely) benign	1 lab	6f0008624a
6:16328275 ATXN1 C>A	6	16328275	16328275	C	A	ATXN1	c.267G>T	NM_000332.3	NP_000323.2:p.(Pro89=)	NC_000006.11:g.16328275C>A	(Likely) benign	1 lab	6f006351a9
7:104703902 KMT2E T>C	7	104703902	104703902	T	C	KMT2E	c.291T>C	NM_182931.2	NP_891847.1:p.(Phe97=)	NC_000007.13:g.104703902T>C	(Likely) benign	1 lab	6f01f29bd4
3:64582605 ADAMTS9 T>C	3	64582605	64582605	T	C	ADAMTS9	c.4080A>G	NM_182920.2	NP_891550.1:p.(Gly1360=)	NC_000003.11:g.64582605T>C	(Likely) benign	1 lab	6f02f624bf
X:50037929 CCNB3 A>G	X	50037929	50037929	A	G	CCNB3	c.271A>G	NM_033031.2	NP_149020.2:p.(Lys91Glu)	NC_000023.10:g.50037929A>G	(Likely) benign	1 lab	6f03764ea0
X:147018124 FMR1 C>G	X	147018124	147018124	C	G	FMR1	c.982C>G	NM_002024.5	NP_002015.1:p.(Gln328Glu)	NC_000023.10:g.147018124C>G	(Likely) benign	1 lab	6f04ccc978
4:88537444 DSPP C>T	4	88537444	88537444	C	T	DSPP	c.3630C>T	NM_014208.3	NP_055023.2:p.(Ser1210=)	NC_000004.11:g.88537444C>T	(Likely) benign	1 lab	6f04f01055
11:66455123 SPTBN2 G>A	11	66455123	66455123	G	A	SPTBN2	c.6502-5C>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66455123G>A	(Likely) benign	1 lab	6f059f2c54
16:774464 CCDC78 G>A	16	774464	774464	G	A	CCDC78	c.811C>T	NM_001031737.2	NP_001026907.2:p.(Arg271Trp)	NC_000016.9:g.774464G>A	VUS	1 lab	6f05b6b214
X:66863156 AR A>T	X	66863156	66863156	A	T	AR	c.79A>T	NM_001011645.3	NP_001011645.1:p.(Thr27Ser)	NC_000023.10:g.66863156A>T	(Likely) benign	1 lab	6f060118b6
1:155837898 SYT11 C>T	1	155837898	155837898	C	T	SYT11	c.177C>T	NM_152280.5	NP_689493.3:p.(Leu59=)	NC_000001.10:g.155837898C>T	(Likely) benign	1 lab	6f0674dc40
1:915485 PERM1 G>A	1	915485	915485	G	A	PERM1	c.925C>T	NM_001291366.1	NP_001278295.1:p.(Pro309Ser)	NC_000001.10:g.915485G>A	(Likely) benign	1 lab	6f07f24380
19:42754595 ERF G>A	19	42754595	42754595	G	A	ERF	c.145C>T	NM_006494.3	NP_006485.2:p.(Gln49Ter)	NC_000019.9:g.42754595G>A	(Likely) pathogenic	1 lab	6f0865a134
14:103363665 TRAF3 G>A	14	103363665	103363665	G	A	TRAF3	c.887G>A	NM_145725.2	NP_663777.1:p.(Cys296Tyr)	NC_000014.8:g.103363665G>A	VUS	1 lab	6f0957a8ce
18:44152119 LOXHD1 C>T	18	44152119	44152119	C	T	LOXHD1	c.1977G>A	NM_144612.6	NP_653213.6:p.(Leu659=)	NC_000018.9:g.44152119C>T	(Likely) benign	1 lab	6f09a6aad6
6:111913185 TRAF3IP2 A>AGGT	6	111913185	111913191	A	AGGT	TRAF3IP2	c.102_104dup	NM_147686.4	NP_679211.2:p.(Pro35dup)	NC_000006.11:g.111913189_111913191dup	(Likely) benign	1 lab	6f0a68600a
13:102568843 FGF14 C>T	13	102568843	102568843	C	T	FGF14	c.153G>A	NM_004115.3	NP_004106.1:p.(Val51=)	NC_000013.10:g.102568843C>T	VUS	1 lab	6f0baa7f5c
13:39265449 FREM2 A>G	13	39265449	39265449	A	G	FREM2	c.3968A>G	NM_207361.5	NP_997244.4:p.(Asn1323Ser)	NC_000013.10:g.39265449A>G	(Likely) benign	1 lab	6f0da4b36d
1:200567508 KIF14 G>A	1	200567508	200567508	G	A	KIF14	c.2406C>T	NM_014875.2	NP_055690.1:p.(Asn802=)	NC_000001.10:g.200567508G>A	(Likely) benign	1 lab	6f0e12ef79
1:172526866 SUCO T>G	1	172526866	172526866	T	G	SUCO	c.1138T>G	NM_016227.3	NP_057311.3:p.(Ser380Ala)	NC_000001.10:g.172526866T>G	(Likely) benign	1 lab	6f0e421a53
3:53783353 CACNA1D C>T	3	53783353	53783353	C	T	CACNA1D	c.3433C>T	NM_000720.4	NP_000711.1:p.(Arg1145Cys)	NC_000003.11:g.53783353C>T	VUS	1 lab	f6754f691f
16:1560982 IFT140 T>C	16	1560982	1560982	T	C	IFT140	c.4352A>G	NM_014714.3	NP_055529.2:p.(Asp1451Gly)	NC_000016.9:g.1560982T>C	(Likely) benign	1 lab	6f0f87abfc
20:62038003 KCNQ2 C>A	20	62038003	62038003	C	A	KCNQ2	c.2613G>T	NM_172107.3	NP_742105.1:p.(Arg871Ser)	NC_000020.10:g.62038003C>A	VUS	1 lab	6f132a39b4
2:179319122 PJVK G>A	2	179319122	179319122	G	A	PJVK	c.284G>A	NM_001353775.1	NP_001340704.1:p.(Arg95Gln)	NC_000002.11:g.179319122G>A	VUS	1 lab	6f14f5de96
22:30057312 NF2 C>A	22	30057312	30057312	C	A	NF2	c.794C>A	NM_000268.3	NP_000259.1:p.(Ser265Ter)	NC_000022.10:g.30057312C>A	(Likely) pathogenic	1 lab	6f154663bd
X:73744558 SLC16A2 C>A	X	73744558	73744558	C	A	SLC16A2	c.940C>A	NM_006517.4	NP_006508.2:p.(Arg314=)	NC_000023.10:g.73744558C>A	(Likely) benign	1 lab	6f187762b1
1:39853101 MACF1 T>G	1	39853101	39853101	T	G	MACF1	c.8401T>G	NM_012090.5	NP_036222.3:p.(Ser2801Ala)	NC_000001.10:g.39853101T>G	VUS	1 lab	f675ec7f5b
X:119249378 RHOXF1 G>T	X	119249378	119249378	G	T	RHOXF1	c.395C>A	NM_139282.2	NP_644811.1:p.(Thr132Lys)	NC_000023.10:g.119249378G>T	(Likely) benign	1 lab	6f1f5ebd23
19:12760240 MAN2B1 C>T	19	12760240	12760240	C	T	MAN2B1	c.2270G>A	NM_000528.3	NP_000519.2:p.(Arg757Gln)	NC_000019.9:g.12760240C>T	(Likely) benign	1 lab	6f207140bc
7:27213230 HOXA10 G>A	7	27213230	27213230	G	A	HOXA10	c.696C>T	NM_018951.4	NP_061824.3:p.(Gly232=)	NC_000007.13:g.27213230G>A	(Likely) benign	1 lab	6f212eb79d
X:80532616 SH3BGRL C>T	X	80532616	80532616	C	T	SH3BGRL	c.179C>T	NM_003022.3	NP_003013.1:p.(Ala60Val)	NC_000023.10:g.80532616C>T	(Likely) benign	1 lab	6f2939ed82
11:1260727 MUC5B G>A	11	1260727	1260727	G	A	MUC5B	c.3514G>A	NM_002458.2	NP_002449.2:p.(Gly1172Arg)	NC_000011.9:g.1260727G>A	VUS	1 lab	6f29608a0c
17:4856390 ENO3 G>C	17	4856390	4856390	G	C	ENO3	c.226G>C	NM_001976.4	NP_001967.3:p.(Ala76Pro)	NC_000017.10:g.4856390G>C	(Likely) benign	1 lab	6f2a2310f1
11:26621224 ANO3 T>A	11	26621224	26621224	T	A	ANO3	c.1982T>A	NM_001313726.1	NP_001300655.1:p.(Val661Asp)	NC_000011.9:g.26621224T>A	VUS	1 lab	6f2aa0819f
X:153032373 PLXNB3 C>A	X	153032373	153032373	C	A	PLXNB3	c.160C>A	NM_001163257.1	NP_001156729.1:p.(Leu54Met)	NC_000023.10:g.153032373C>A	VUS	1 lab	6f2ba9c82a
1:47765705 STIL T>C	1	47765705	47765705	T	C	STIL	c.573A>G	NM_001048166.1	NP_001041631.1:p.(Ala191=)	NC_000001.10:g.47765705T>C	(Likely) benign	1 lab	6f2dcab92e
9:32542546 TOPORS A>G	9	32542546	32542546	A	G	TOPORS	c.1977T>C	NM_005802.4	NP_005793.2:p.(Thr659=)	NC_000009.11:g.32542546A>G	(Likely) benign	1 lab	6f2ebd4712
X:49022640 MAGIX T>C	X	49022640	49022640	T	C	MAGIX	c.907T>C	NM_024859.3	NP_079135.3:p.(Trp303Arg)	NC_000023.10:g.49022640T>C	(Likely) benign	1 lab	6f2ef1f8f4
5:177035600 B4GALT7 C>T	5	177035600	177035600	C	T	B4GALT7	c.700C>T	NM_007255.2	NP_009186.1:p.(Arg234Cys)	NC_000005.9:g.177035600C>T	VUS	1 lab	6f30e18c4a
17:41223127 BRCA1 CT>C	17	41223127	41223130	CT	C	BRCA1	c.4803del	NM_007294.4	NP_009225.1:p.(Val1602PhefsTer4)	NC_000017.10:g.41223130del	(Likely) pathogenic	1 lab	6f313b8549
10:78850276 KCNMA1 G>A	10	78850276	78850276	G	A	KCNMA1	c.1224-8C>T	NM_001322830.1	NP_001309759.1:p.?	NC_000010.10:g.78850276G>A	(Likely) benign	1 lab	6f320d413d
19:57036475 ZNF471 G>A	19	57036475	57036475	G	A	ZNF471	c.1039G>A	NM_020813.4	NP_065864.2:p.(Glu347Lys)	NC_000019.9:g.57036475G>A	VUS	1 lab	6f33d12e75
5:127873165 FBN2 C>G	5	127873165	127873165	C	G	FBN2	c.132G>C	NM_001999.3	NP_001990.2:p.(Pro44=)	NC_000005.9:g.127873165C>G	VUS	1 lab	6f341b7c63
17:29576135 NF1 C>T	17	29576135	29576135	C	T	NF1	c.4108C>T	NM_000267.3	NP_000258.1:p.(Gln1370Ter)	NC_000017.10:g.29576135C>T	(Likely) pathogenic	1 lab	6f342294c0
4:75937876 PARM1 G>A	4	75937876	75937876	G	A	PARM1	c.285G>A	NM_015393.4	NP_056208.2:p.(Ser95=)	NC_000004.11:g.75937876G>A	(Likely) benign	1 lab	6f348207b5
7:45753418 ADCY1 G>A	7	45753418	45753418	G	A	ADCY1	c.3184G>A	NM_021116.3	NP_066939.1:p.(Gly1062Ser)	NC_000007.13:g.45753418G>A	(Likely) benign	1 lab	6f35720650
3:130282112 COL6A6 C>A	3	130282112	130282112	C	A	COL6A6	c.265C>A	NM_001102608.2	NP_001096078.1:p.(Pro89Thr)	NC_000003.11:g.130282112C>A	VUS	1 lab	6f389ae8ae
11:119142478 CBL C>T	11	119142478	119142478	C	T	CBL	c.477C>T	NM_005188.3	NP_005179.2:p.(Ser159=)	NC_000011.9:g.119142478C>T	(Likely) benign	1 lab	6f38ecec37
6:105219095 HACE1 C>A	6	105219095	105219095	C	A	HACE1	c.2184G>T	NM_020771.3	NP_065822.2:p.(Gly728=)	NC_000006.11:g.105219095C>A	(Likely) benign	1 lab	6f39e6cc75
10:74714325 PLA2G12B C>T	10	74714325	74714325	C	T	PLA2G12B	c.119G>A	NM_032562.4	NP_115951.2:p.(Arg40Gln)	NC_000010.10:g.74714325C>T	VUS	1 lab	6f39eaadba
4:3076650 HTT AGC>A	4	3076650	3076652	AGC	A	HTT	c.99_100del	NM_001388492.1	NP_001375421.1:p.(Gln34AlafsTer48)	NC_000004.11:g.3076651_3076652del	(Likely) benign	1 lab	6f39f3a635
10:78316989 LRMDA C>T	10	78316989	78316989	C	T	LRMDA	c.540C>T	NM_032024.4	NP_114413.1:p.(Tyr180=)	NC_000010.10:g.78316989C>T	(Likely) benign	1 lab	6f3a8b0166
2:171716216 GAD1 A>G	2	171716216	171716216	A	G	GAD1	c.1612-3A>G	NM_000817.2	NP_000808.2:p.?	NC_000002.11:g.171716216A>G	(Likely) benign	1 lab	6f3d121fde
2:1946869 MYT1L C>G	2	1946869	1946869	C	G	MYT1L	c.390G>C	NM_001329851.1	NP_001316780.1:p.(Glu130Asp)	NC_000002.11:g.1946869C>G	(Likely) benign	1 lab	6f40355664
16:2114392 TSC2 A>AC	16	2114392	2114393	A	AC	TSC2	c.1564dup	NM_000548.3	NP_000539.2:p.(His522ProfsTer67)	NC_000016.9:g.2114393dup	(Likely) pathogenic	1 lab	6f40e4491a
12:120139465 CIT C>T	12	120139465	120139465	C	T	CIT	c.5506G>A	NM_001206999.1	NP_001193928.1:p.(Ala1836Thr)	NC_000012.11:g.120139465C>T	(Likely) benign	1 lab	6f40ec80ae
16:72828265 ZFHX3 G>A	16	72828265	72828265	G	A	ZFHX3	c.8316C>T	NM_006885.3	NP_008816.3:p.(His2772=)	NC_000016.9:g.72828265G>A	(Likely) benign	1 lab	6f4276ffcc
9:123800191 C5 G>A	9	123800191	123800191	G	A	C5	c.478C>T	NM_001317163.1	NP_001304092.1:p.(Pro160Ser)	NC_000009.11:g.123800191G>A	(Likely) benign	1 lab	6f434f5a15
12:111351003 MYL2 A>AG	12	111351003	111351008	A	AG	MYL2	c.353+46dup	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351008dup	(Likely) benign	1 lab	6f4766ee07
15:89864034 POLG C>T	15	89864034	89864034	C	T	POLG	c.2944G>A	NM_002693.2	NP_002684.1:p.(Ala982Thr)	NC_000015.9:g.89864034C>T	VUS	1 lab	6f4992481b
14:102452240 DYNC1H1 G>A	14	102452240	102452240	G	A	DYNC1H1	c.1678G>A	NM_001376.4	NP_001367.2:p.(Val560Met)	NC_000014.8:g.102452240G>A	VUS	1 lab	6f4b235e5c
1:220368733 RAB3GAP2 C>A	1	220368733	220368733	C	A	RAB3GAP2	c.961-14G>T	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220368733C>A	(Likely) benign	1 lab	6f4d435aad
4:905502 GAK G>A	4	905502	905502	G	A	GAK	c.341C>T	NM_005255.4	NP_005246.2:p.(Thr114Met)	NC_000004.11:g.905502G>A	VUS	1 lab	6f4f084cf5
9:117228539 WHRN T>TCC	9	117228539	117228542	T	TCC	WHRN	c.963+6_963+7dup	NM_015404.3	NP_056219.3:p.?	NC_000009.11:g.117228541_117228542dup	(Likely) benign	1 lab	6f4f65c2ec
14:102898442 TECPR2 G>GGAA	14	102898442	102898462	G	GGAA	TECPR2	c.1412_1414dup	NM_014844.4	NP_055659.2:p.(Lys471dup)	NC_000014.8:g.102898460_102898462dup	VUS	1 lab	6f4fd206e6
20:30607035 CCM2L A>AGGCGGCGGC	20	30607035	30607057	A	AGGCGGCGGC	CCM2L	c.770_778dup	NM_001365692.1	NP_001352621.1:p.(Gly257_Gly259dup)	NC_000020.10:g.30607049_30607057dup	VUS	1 lab	6f510b7256
21:45711025 AIRE C>G	21	45711025	45711025	C	G	AIRE				NC_000021.8:g.45711025C>G	VUS	1 lab	6f5403db01
19:50779240 MYH14 A>AC	19	50779240	50779245	A	AC	MYH14	c.3468-3dup	NM_001145809.1	NP_001139281.1:p.?	NC_000019.9:g.50779245dup	(Likely) benign	1 lab	6f55291844
17:27068531 NEK8 C>G	17	27068531	27068531	C	G	NEK8	c.1992C>G	NM_178170.3	NP_835464.1:p.(His664Gln)	NC_000017.10:g.27068531C>G	VUS	1 lab	6f5676ad80
12:76740029 BBS10 T>C	12	76740029	76740029	T	C	BBS10	c.1736A>G	NM_024685.4	NP_078961.3:p.(Lys579Arg)	NC_000012.11:g.76740029T>C	VUS	1 lab	6f5831b157
19:9069672 MUC16 C>T	19	9069672	9069672	C	T	MUC16	c.17774G>A	NM_024690.2	NP_078966.2:p.(Ser5925Asn)	NC_000019.9:g.9069672C>T	VUS	1 lab	6f58b26a1c
17:73520485 TSEN54 G>C	17	73520485	73520485	G	C	TSEN54	c.1573G>C	NM_207346.2	NP_997229.2:p.(Gly525Arg)	NC_000017.10:g.73520485G>C	(Likely) benign	1 lab	6f59287a9d
2:145162529 ZEB2 G>A	2	145162529	145162529	G	A	ZEB2	c.466C>T	NM_014795.3	NP_055610.1:p.(Arg156Cys)	NC_000002.11:g.145162529G>A	(Likely) benign	1 lab	6f5984d319
17:78184624 SGSH AC>A	17	78184624	78184625	AC	A	SGSH	c.1135del	NM_000199.5	NP_000190.1:p.(Val379CysfsTer34)	NC_000017.10:g.78184625del	(Likely) pathogenic	1 lab	6f5a31b17e
2:71163191 ATP6V1B1 A>AC	2	71163191	71163196	A	AC	ATP6V1B1	c.112dup	NM_001692.4	NP_001683.2:p.(Arg38ProfsTer45)	NC_000002.11:g.71163196dup	(Likely) pathogenic	1 lab	6f5b127d1f
X:37913641 SYTL5 G>C	X	37913641	37913641	G	C	SYTL5	c.295G>C	NM_001163335.1	NP_001156807.1:p.(Gly99Arg)	NC_000023.10:g.37913641G>C	(Likely) benign	1 lab	6f5cfd47ed
1:171605702 MYOC G>T	1	171605702	171605702	G	T	MYOC	c.878C>A	NM_000261.1	NP_000252.1:p.(Thr293Lys)	NC_000001.10:g.171605702G>T	(Likely) benign	1 lab	6f5e93219d
9:138677170 KCNT1 A>AGCCCAGGTAAGCAACCCCTCCGT	9	138677170	138677198	A	AGCCCAGGTAAGCAACCCCTCCGT	KCNT1	c.3177_3177+22dup	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138677176_138677198dup	VUS	1 lab	f68790c71b
16:2134716 TSC2 G>A	16	2134716	2134716	G	A	TSC2	c.4493G>A	NM_000548.3	NP_000539.2:p.(Ser1498Asn)	NC_000016.9:g.2134716G>A	(Likely) pathogenic	1 lab	6f627c0524
19:55365330 KIR3DL2 G>A	19	55365330	55365330	G	A	KIR3DL2	c.484G>A	NM_006737.3	NP_006728.2:p.(Glu162Lys)	NC_000019.9:g.55365330G>A	(Likely) benign	1 lab	6f62c8f19b
20:34092754 CEP250 G>T	20	34092754	34092754	G	T	CEP250	c.6557G>T	NM_007186.5	NP_009117.2:p.(Ser2186Ile)	NC_000020.10:g.34092754G>T	VUS	1 lab	6f630dd19c
1:120539331 NOTCH2 C>T	1	120539331	120539331	C	T	NOTCH2	c.751+289G>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120539331C>T	(Likely) benign	1 lab	f6881089d7
X:111698660 RTL4 T>C	X	111698660	111698660	T	C	RTL4	c.704T>C	NM_001004308.2	NP_001004308.2:p.(Leu235Ser)	NC_000023.10:g.111698660T>C	(Likely) benign	1 lab	6f651830f9
15:30664400 CHRFAM7A G>A	15	30664400	30664400	G	A	CHRFAM7A	c.473C>T	NM_139320.1	NP_647536.1:p.(Ala158Val)	NC_000015.9:g.30664400G>A	(Likely) benign	1 lab	6f6660139b
9:33548615 ANKRD18B A>G	9	33548615	33548615	A	G	ANKRD18B	c.1640A>G	NM_001353432.1	NP_001340361.1:p.(Gln547Arg)	NC_000009.11:g.33548615A>G	(Likely) benign	1 lab	6f6748c39c
1:11292666 MTOR T>A	1	11292666	11292666	T	A	MTOR	c.2422-81A>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11292666T>A	(Likely) benign	1 lab	6f682d8499
X:41012273 USP9X A>T	X	41012273	41012273	A	T	USP9X	c.1836A>T	NM_001039591.3	NP_001034680.2:p.(Leu612=)	NC_000023.10:g.41012273A>T	(Likely) benign	1 lab	6f689f9c12
X:54836237 MAGED2 C>T	X	54836237	54836237	C	T	MAGED2	c.128C>T	NM_177433.2	NP_803182.1:p.(Pro43Leu)	NC_000023.10:g.54836237C>T	(Likely) benign	1 lab	6f68aa892c
X:9864691 SHROOM2 G>A	X	9864691	9864691	G	A	SHROOM2	c.2743G>A	NM_001649.3	NP_001640.1:p.(Val915Ile)	NC_000023.10:g.9864691G>A	(Likely) benign	1 lab	6f6b1df204
20:47612375 ARFGEF2 G>A	20	47612375	47612375	G	A	ARFGEF2	c.3177G>A	NM_006420.2	NP_006411.2:p.(Ser1059=)	NC_000020.10:g.47612375G>A	(Likely) benign	1 lab	6f6b94ea11
13:39261948 FREM2 G>T	13	39261948	39261948	G	T	FREM2	c.467G>T	NM_207361.5	NP_997244.4:p.(Arg156Leu)	NC_000013.10:g.39261948G>T	VUS	1 lab	6f6dc8ff9e
22:32174159 DEPDC5 G>C	22	32174159	32174159	G	C	DEPDC5	c.483+5G>C	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32174159G>C	VUS	1 lab	6f6e4be7b8
16:2137982 TSC2 G>A	16	2137982	2137982	G	A	TSC2	c.5068+40G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137982G>A	(Likely) benign	1 lab	6f6eb78bb2
9:79936108 VPS13A C>T	9	79936108	79936108	C	T	VPS13A	c.5439C>T	NM_033305.3	NP_150648.2:p.(Ala1813=)	NC_000009.11:g.79936108C>T	(Likely) benign	1 lab	f68bbe52e8
1:216462695 USH2A G>A	1	216462695	216462695	G	A	USH2A	c.1898C>T	NM_206933.2	NP_996816.2:p.(Ser633Leu)	NC_000001.10:g.216462695G>A	VUS	1 lab	6f702490a8
17:29654736 NF1 C>G	17	29654736	29654736	C	G	NF1	c.5425C>G	NM_000267.3	NP_000258.1:p.(Arg1809Gly)	NC_000017.10:g.29654736C>G	VUS	1 lab	6f71d76a20
5:68715272 MARVELD2 C>T	5	68715272	68715272	C	T	MARVELD2	c.60C>T	NM_001038603.2	NP_001033692.2:p.(Asp20=)	NC_000005.9:g.68715272C>T	(Likely) benign	1 lab	6f7270adee
1:1857945 CFAP74 C>T	1	1857945	1857945	C	T	CFAP74	c.3779G>A	NM_001304360.2	NP_001291289.1:p.(Arg1260His)	NC_000001.10:g.1857945C>T	(Likely) benign	1 lab	6f743df760
2:162273599 TBR1 C>G	2	162273599	162273599	C	G	TBR1	c.678C>G	NM_006593.4	NP_006584.1:p.(Ile226Met)	NC_000002.11:g.162273599C>G	VUS	1 lab	f6945599f0
5:78264874 ARSB G>A	5	78264874	78264874	G	A	ARSB	c.454C>T	NM_000046.4	NP_000037.2:p.(Arg152Trp)	NC_000005.9:g.78264874G>A	(Likely) pathogenic	1 lab	6f753e4f6c
7:101950108 MISSING G>A	7	101950108	101950108	G	A	MISSING				NC_000007.13:g.101950108G>A	(Likely) benign	1 lab	6f75bcc47d
10:13323083 PHYH C>T	10	13323083	13323083	C	T	PHYH	c.556G>A	NM_001323080.1	NP_001310009.1:p.(Asp186Asn)	NC_000010.10:g.13323083C>T	VUS	1 lab	6f76df5436
4:110790871 LRIT3 C>T	4	110790871	110790871	C	T	LRIT3	c.966C>T	NM_198506.4	NP_940908.3:p.(Asp322=)	NC_000004.11:g.110790871C>T	(Likely) benign	1 lab	6f76ec078f
6:24447166 GPLD1 C>T	6	24447166	24447166	C	T	GPLD1	c.1720G>A	NM_001503.3	NP_001494.2:p.(Glu574Lys)	NC_000006.11:g.24447166C>T	(Likely) benign	1 lab	6f77a0579c
8:145639638 SLC39A4 G>A	8	145639638	145639638	G	A	SLC39A4	c.1074+8C>T	NM_017767.2	NP_060237.2:p.?	NC_000008.10:g.145639638G>A	(Likely) benign	1 lab	6f78ebe492
18:43523240 EPG5 C>T	18	43523240	43523240	C	T	EPG5	c.1830G>A	NM_020964.3	NP_066015.2:p.(Met610Ile)	NC_000018.9:g.43523240C>T	VUS	1 lab	6f7952ac86
9:2645109 VLDLR G>A	9	2645109	2645109	G	A	VLDLR	c.1312+27G>A	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2645109G>A	(Likely) benign	1 lab	6f798e5b03
9:126125147 CRB2 C>T	9	126125147	126125147	C	T	CRB2	c.98C>T	NM_173689.6	NP_775960.4:p.(Thr33Met)	NC_000009.11:g.126125147C>T	(Likely) benign	1 lab	6f7a99fc76
9:99064299 HSD17B3 A>C	9	99064299	99064299	A	C	HSD17B3	c.88T>G	NM_000197.2	NP_000188.1:p.(Cys30Gly)	NC_000009.11:g.99064299A>C	(Likely) benign	1 lab	6f7abd52c4
1:228547329 OBSCN C>A	1	228547329	228547329	C	A	OBSCN	c.18736C>A	NM_052843.3	NP_443075.3:p.(Pro6246Thr)	NC_000001.10:g.228547329C>A	VUS	1 lab	6f7ae5612a
17:4904556 KIF1C C>T	17	4904556	4904556	C	T	KIF1C	c.223C>T	NM_006612.5	NP_006603.2:p.(Arg75Trp)	NC_000017.10:g.4904556C>T	VUS	1 lab	758348891f
16:5134898 ALG1 C>CTA	16	5134898	5134900	C	CTA	ALG1	c.*17_*18dup	NM_019109.5	NP_061982.3:p.?	NC_000016.9:g.5134899_5134900dup	(Likely) benign	1 lab	f69461713c
6:80634727 ELOVL4 G>A	6	80634727	80634727	G	A	ELOVL4	c.311C>T	NM_022726.3	NP_073563.1:p.(Ala104Val)	NC_000006.11:g.80634727G>A	VUS	1 lab	6f7c9d5e92
11:47359019 MYBPC3 T>TA	11	47359019	47359020	T	TA	MYBPC3	c.2524dup	NM_000256.3	NP_000247.2:p.(Tyr842LeufsTer42)	NC_000011.9:g.47359020dup	(Likely) pathogenic	1 lab	6f7f00f468
2:179579971 TTN T>C	2	179579971	179579971	T	C	TTN	c.25942A>G	NM_001267550.1	NP_001254479.1:p.(Lys8648Glu)	NC_000002.11:g.179579971T>C	VUS	1 lab	6f808abee9
6:152651051 SYNE1 T>C	6	152651051	152651051	T	C	SYNE1	c.14769A>G	NM_182961.3	NP_892006.3:p.(Glu4923=)	NC_000006.11:g.152651051T>C	(Likely) benign	1 lab	6f817df73c
X:153784482 IKBKG TCCAGGAGG>T	X	153784482	153784496	TCCAGGAGG	T	IKBKG	c.297_304del	NM_001099857.5	NP_001093327.1:p.(Ala100ThrfsTer35)	NC_000023.10:g.153784489_153784496del	(Likely) pathogenic	1 lab	f69db9d422
11:1271847 MUC5B C>G	11	1271847	1271847	C	G	MUC5B	c.13737C>G	NM_002458.2	NP_002449.2:p.(Ala4579=)	NC_000011.9:g.1271847C>G	(Likely) benign	1 lab	6f83085038
11:78567079 TENM4 T>C	11	78567079	78567079	T	C	TENM4	c.1400A>G	NM_001098816.2	NP_001092286.2:p.(Asn467Ser)	NC_000011.9:g.78567079T>C	VUS	1 lab	6f83c68303
6:87970881 ZNF292 AATG>A	6	87970881	87970886	AATG	A	ZNF292	c.7537_7539del	NM_015021.3	NP_055836.1:p.(Asp2513del)	NC_000006.11:g.87970884_87970886del	VUS	1 lab	6f849c9b35
3:9970271 IL17RC T>A	3	9970271	9970271	T	A	IL17RC	c.1280T>A	NM_153461.3	NP_703191.1:p.(Leu427His)	NC_000003.11:g.9970271T>A	VUS	1 lab	6f859efb19
8:100791188 VPS13B G>A	8	100791188	100791188	G	A	VPS13B	c.7783G>A	NM_017890.4	NP_060360.3:p.(Asp2595Asn)	NC_000008.10:g.100791188G>A	VUS	1 lab	6f85db5064
9:113563062 MUSK C>T	9	113563062	113563062	C	T	MUSK	c.2404C>T	NM_005592.3	NP_005583.1:p.(Pro802Ser)	NC_000009.11:g.113563062C>T	VUS	1 lab	6f8635409d
9:123169523 CDK5RAP2 G>A	9	123169523	123169523	G	A	CDK5RAP2	c.4730C>T	NM_018249.5	NP_060719.4:p.(Ala1577Val)	NC_000009.11:g.123169523G>A	(Likely) benign	1 lab	6f88e0ef51
17:18024055 MYO15A A>C	17	18024055	18024055	A	C	MYO15A	c.1941A>C	NM_016239.3	NP_057323.3:p.(Pro647=)	NC_000017.10:g.18024055A>C	(Likely) benign	1 lab	6f8a886aca
15:43045311 TTBK2 G>T	15	43045311	43045311	G	T	TTBK2	c.2133C>A	NM_173500.3	NP_775771.3:p.(Phe711Leu)	NC_000015.9:g.43045311G>T	(Likely) benign	1 lab	6f8c259a21
X:134031020 MOSPD1 A>G	X	134031020	134031020	A	G	MOSPD1	c.275T>C	NM_019556.3	NP_062456.1:p.(Ile92Thr)	NC_000023.10:g.134031020A>G	VUS	1 lab	6f8e7c04e5
12:57437976 MYO1A G>A	12	57437976	57437976	G	A	MYO1A	c.658C>T	NM_001256041.1	NP_001242970.1:p.(Arg220Trp)	NC_000012.11:g.57437976G>A	VUS	1 lab	6f8e82c17b
2:179400185 TTN G>A	2	179400185	179400185	G	A	TTN	c.101157C>T	NM_001267550.1	NP_001254479.1:p.(Ser33719=)	NC_000002.11:g.179400185G>A	(Likely) benign	1 lab	6f90b9dbf2
3:38892224 SCN11A C>T	3	38892224	38892224	C	T	SCN11A	c.4075G>A	NM_014139.2	NP_054858.2:p.(Val1359Met)	NC_000003.11:g.38892224C>T	(Likely) benign	1 lab	6f91ced6c5
10:11370967 CELF2 G>A	10	11370967	11370967	G	A	CELF2	c.1517G>A	NM_006561.4	NP_006552.3:p.(Arg506His)	NC_000010.10:g.11370967G>A	(Likely) pathogenic	1 lab	f69e1f84b7
9:135786112 TSC1 T>C	9	135786112	135786112	T	C	TSC1	c.1142-33A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786112T>C	(Likely) benign	1 lab	6f95b7daa5
X:69255405 EDA C>G	X	69255405	69255405	C	G	EDA	c.1122C>G	NM_001399.4	NP_001390.1:p.(Ser374Arg)	NC_000023.10:g.69255405C>G	VUS	1 lab	6f95dc4467
7:69064806 AUTS2 A>G	7	69064806	69064806	A	G	AUTS2	c.167A>G	NM_001127231.2	NP_001120703.1:p.(Lys56Arg)	NC_000007.13:g.69064806A>G	VUS	1 lab	6f95e3540a
7:16840974 AGR2 T>C	7	16840974	16840974	T	C	AGR2	c.173A>G	NM_006408.4	NP_006399.1:p.(Tyr58Cys)	NC_000007.13:g.16840974T>C	VUS	1 lab	6f97819c48
7:100028971 MEPCE G>A	7	100028971	100028971	G	A	MEPCE	c.1330G>A	NM_019606.6	NP_062552.2:p.(Gly444Ser)	NC_000007.13:g.100028971G>A	VUS	1 lab	6f981978a4
20:746178 SLC52A3 C>T	20	746178	746178	C	T	SLC52A3	c.241G>A	NM_033409.3	NP_212134.3:p.(Val81Met)	NC_000020.10:g.746178C>T	(Likely) benign	1 lab	6f98abbc52
9:5361180 PLGRKT T>C	9	5361180	5361180	T	C	PLGRKT	c.220A>G	NM_018465.4	NP_060935.2:p.(Lys74Glu)	NC_000009.11:g.5361180T>C	VUS	1 lab	6f9a56e153
X:153991222 DKC1 G>C	X	153991222	153991222	G	C	DKC1	c.-19G>C	NM_001363.3	NP_001354.1:p.?	NC_000023.10:g.153991222G>C	(Likely) benign	1 lab	6f9a71457d
17:41245248 BRCA1 CT>C	17	41245248	41245249	CT	C	BRCA1	c.2299del	NM_007294.4	NP_009225.1:p.(Ser767AlafsTer25)	NC_000017.10:g.41245249del	(Likely) pathogenic	1 lab	f6a4a7418d
17:73745031 ITGB4 G>A	17	73745031	73745031	G	A	ITGB4	c.3221G>A	NM_000213.4	NP_000204.3:p.(Arg1074His)	NC_000017.10:g.73745031G>A	VUS	1 lab	6fa0576028
9:101908777 TGFBR1 C>T	9	101908777	101908777	C	T	TGFBR1	c.1153C>T	NM_001306210.1	NP_001293139.1:p.(Pro385Ser)	NC_000009.11:g.101908777C>T	VUS	1 lab	6fa28ccec9
2:149829894 KIF5C A>G	2	149829894	149829894	A	G	KIF5C	c.1162A>G	NM_004522.3	NP_004513.1:p.(Lys388Glu)	NC_000002.11:g.149829894A>G	(Likely) benign	1 lab	6fa3641129
19:35435302 ZNF30 C>T	19	35435302	35435302	C	T	ZNF30	c.1435C>T	NM_001099438.1	NP_001092908.1:p.(His479Tyr)	NC_000019.9:g.35435302C>T	VUS	1 lab	6fa3ed8f02
7:24745925 GSDME T>G	7	24745925	24745925	T	G	GSDME	c.1061A>C	NM_004403.2	NP_004394.1:p.(Gln354Pro)	NC_000007.13:g.24745925T>G	(Likely) benign	1 lab	6fa6498968
17:29661901 NF1 T>C	17	29661901	29661901	T	C	NF1	c.5795T>C	NM_000267.3	NP_000258.1:p.(Leu1932Pro)	NC_000017.10:g.29661901T>C	VUS	1 lab	6fa68852e7
11:44219576 EXT2 G>A	11	44219576	44219576	G	A	EXT2	c.1525+8G>A	NM_001178083.1	NP_001171554.1:p.?	NC_000011.9:g.44219576G>A	(Likely) benign	1 lab	6fa7953036
X:107084486 MID2 C>T	X	107084486	107084486	C	T	MID2	c.591C>T	NM_012216.3	NP_036348.2:p.(Asp197=)	NC_000023.10:g.107084486C>T	(Likely) benign	1 lab	6fa7e54290
5:172659955 NKX2-5 G>A	5	172659955	172659955	G	A	NKX2-5	c.592C>T	NM_004387.3	NP_004378.1:p.(Gln198Ter)	NC_000005.9:g.172659955G>A	(Likely) pathogenic	1 lab	6fa86009d6
1:22007292 USP48 G>C	1	22007292	22007292	G	C	USP48	c.3085+9C>G	NM_032236.7	NP_115612.4:p.?	NC_000001.10:g.22007292G>C	(Likely) benign	1 lab	6fa88b4ba6
2:197187214 HECW2 C>T	2	197187214	197187214	C	T	HECW2	c.872G>A	NM_020760.4	NP_065811.1:p.(Arg291Gln)	NC_000002.11:g.197187214C>T	(Likely) benign	1 lab	f6a5bb0b21
17:29490336 NF1 GT>G	17	29490336	29490340	GT	G	NF1	c.425del	NM_001042492.3	NP_001035957.1:p.(Leu142TyrfsTer23)	NC_000017.10:g.29490340del	(Likely) pathogenic	1 lab	6fad12c394
1:231398585 GNPAT A>T	1	231398585	231398585	A	T	GNPAT	c.555A>T	NM_014236.3	NP_055051.1:p.(Ile185=)	NC_000001.10:g.231398585A>T	(Likely) benign	1 lab	6fad221f5d
12:14822738 GUCY2C G>A	12	14822738	14822738	G	A	GUCY2C	c.1200C>T	NM_004963.3	NP_004954.2:p.(His400=)	NC_000012.11:g.14822738G>A	(Likely) benign	1 lab	6fadc8eb73
16:50816436 CYLD G>GGT	16	50816436	50816453	G	GGT	CYLD	c.1826+75_1826+76dup	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50816452_50816453dup	(Likely) benign	1 lab	6faf0f6b5e
X:64749627 LAS1L T>C	X	64749627	64749627	T	C	LAS1L	c.646A>G	NM_031206.4	NP_112483.1:p.(Asn216Asp)	NC_000023.10:g.64749627T>C	(Likely) benign	1 lab	6faf3a4b3e
16:88800956 PIEZO1 G>A	16	88800956	88800956	G	A	PIEZO1	c.1998-10C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88800956G>A	(Likely) benign	1 lab	6fb0baa6a3
9:112166881 PTPN3 G>A	9	112166881	112166881	G	A	PTPN3	c.1407C>T	NM_001145369.1	NP_001138841.1:p.(Arg469=)	NC_000009.11:g.112166881G>A	(Likely) benign	1 lab	6fb0d009fe
1:152058464 TCHHL1 C>T	1	152058464	152058464	C	T	TCHHL1	c.1694G>A	NM_001008536.2	NP_001008536.1:p.(Gly565Asp)	NC_000001.10:g.152058464C>T	(Likely) benign	1 lab	6fb17256b2
5:11117619 CTNND2 C>T	5	11117619	11117619	C	T	CTNND2	c.2220G>A	NM_001332.3	NP_001323.1:p.(Thr740=)	NC_000005.9:g.11117619C>T	(Likely) benign	1 lab	6fb17e6e2f
7:150784062 AGAP3 C>T	7	150784062	150784062	C	T	AGAP3	c.234C>T	NM_031946.6	NP_114152.3:p.(Ser78=)	NC_000007.13:g.150784062C>T	(Likely) benign	1 lab	6fb1caa26e
6:79680573 PHIP A>T	6	79680573	79680573	A	T	PHIP	c.2922T>A	NM_017934.6	NP_060404.4:p.(Tyr974Ter)	NC_000006.11:g.79680573A>T	(Likely) pathogenic	1 lab	6fb1db4196
5:126161691 LMNB1 A>G	5	126161691	126161691	A	G	LMNB1	c.1503A>G	NM_005573.3	NP_005564.1:p.(Ala501=)	NC_000005.9:g.126161691A>G	(Likely) benign	1 lab	6fb23c6bae
13:86369017 SLITRK6 C>T	13	86369017	86369017	C	T	SLITRK6	c.1627G>A	NM_032229.3	NP_115605.2:p.(Asp543Asn)	NC_000013.10:g.86369017C>T	(Likely) benign	1 lab	6fb438c57f
16:2034408 GFER G>C	16	2034408	2034408	G	C	GFER	c.189G>C	NM_005262.2	NP_005253.3:p.(Glu63Asp)	NC_000016.9:g.2034408G>C	(Likely) benign	1 lab	6fb4731438
2:145155961 ZEB2 G>C	2	145155961	145155961	G	C	ZEB2	c.2793C>G	NM_014795.3	NP_055610.1:p.(Phe931Leu)	NC_000002.11:g.145155961G>C	VUS	1 lab	6fb4ad91de
1:215813964 USH2A G>A	1	215813964	215813964	G	A	USH2A	c.14904C>T	NM_206933.2	NP_996816.2:p.(Asp4968=)	NC_000001.10:g.215813964G>A	(Likely) benign	1 lab	6fb57d323b
5:137522867 KIF20A A>G	5	137522867	137522867	A	G	KIF20A	c.2438A>G	NM_005733.3	NP_005724.1:p.(Gln813Arg)	NC_000005.9:g.137522867A>G	VUS	1 lab	6fb9b7a9c6
17:41063317 G6PC C>A	17	41063317	41063317	C	A	G6PC				NC_000017.10:g.41063317C>A	(Likely) benign	1 lab	6fb9c06c17
X:110955725 ALG13 A>C	X	110955725	110955725	A	C	ALG13	c.665A>C	NM_001257231.1	NP_001244160.1:p.(Gln222Pro)	NC_000023.10:g.110955725A>C	VUS	1 lab	6fb9dda022
22:19969030 ARVCF G>A	22	19969030	19969030	G	A	ARVCF	c.600C>T	NM_001670.2	NP_001661.1:p.(Ser200=)	NC_000022.10:g.19969030G>A	(Likely) benign	1 lab	6fbb1fa240
16:1270545 CACNA1H C>T	16	1270545	1270545	C	T	CACNA1H	c.6613C>T	NM_021098.2	NP_066921.2:p.(Arg2205Trp)	NC_000016.9:g.1270545C>T	(Likely) benign	1 lab	6fbcf73ed6
3:10070369 FANCD2 T>C	3	10070369	10070369	T	C	FANCD2	c.28T>C	NM_001319984.1	NP_001306913.1:p.(Ser10Pro)	NC_000003.11:g.10070369T>C	(Likely) benign	1 lab	6fbddfa3cb
7:107336431 SLC26A4 T>C	7	107336431	107336431	T	C	SLC26A4	c.1491T>C	NM_000441.1	NP_000432.1:p.(Gly497=)	NC_000007.13:g.107336431T>C	(Likely) benign	1 lab	6fbf51f4a9
5:90106746 ADGRV1 G>A	5	90106746	90106746	G	A	ADGRV1	c.15669G>A	NM_032119.4	NP_115495.3:p.(Gly5223=)	NC_000005.9:g.90106746G>A	(Likely) benign	1 lab	6fc22872c5
1:151554167 TUFT1 G>A	1	151554167	151554167	G	A	TUFT1	c.1214G>A	NM_001301317.1	NP_001288246.1:p.(Arg405Gln)	NC_000001.10:g.151554167G>A	VUS	1 lab	6fc293ac87
10:74034638 DDIT4 C>T	10	74034638	74034638	C	T	DDIT4	c.391C>T	NM_019058.4	NP_061931.1:p.(Leu131=)	NC_000010.10:g.74034638C>T	(Likely) benign	1 lab	6fc2c2a783
17:73838676 UNC13D C>A	17	73838676	73838676	C	A	UNC13D	c.407G>T	NM_199242.2	NP_954712.1:p.(Cys136Phe)	NC_000017.10:g.73838676C>A	VUS	1 lab	6fc4fab9db
17:26851708 FOXN1 T>C	17	26851708	26851708	T	C	FOXN1	c.311T>C	NM_003593.2	NP_003584.2:p.(Phe104Ser)	NC_000017.10:g.26851708T>C	VUS	1 lab	6fc6145bce
1:103548360 COL11A1 C>T	1	103548360	103548360	C	T	COL11A1	c.274+1G>A	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103548360C>T	(Likely) pathogenic	1 lab	6fc617a8be
9:74764508 GDA C>A	9	74764508	74764508	C	A	GDA	c.33C>A	NM_004293.4	NP_004284.1:p.(His11Gln)	NC_000009.11:g.74764508C>A	(Likely) benign	1 lab	6fc6e1542e
16:57778351 KATNB1 A>G	16	57778351	57778351	A	G	KATNB1	c.217A>G	NM_005886.2	NP_005877.2:p.(Thr73Ala)	NC_000016.9:g.57778351A>G	(Likely) benign	1 lab	6fc7fdbd60
13:100634911 ZIC2 C>T	13	100634911	100634911	C	T	ZIC2	c.593C>T	NM_007129.4	NP_009060.2:p.(Ala198Val)	NC_000013.10:g.100634911C>T	VUS	1 lab	6fc992e1f1
11:64571819 MEN1 C>T	11	64571819	64571819	C	T	MEN1	c.1835G>A	NM_130803.2	NP_570715.1:p.(Arg612His)	NC_000011.9:g.64571819C>T	VUS	1 lab	f6aa572b0a
18:29116390 DSG2 A>G	18	29116390	29116390	A	G	DSG2	c.1649A>G	NM_001943.3	NP_001934.2:p.(Glu550Gly)	NC_000018.9:g.29116390A>G	VUS	1 lab	6fcc65accc
X:149013272 MAGEA8 G>A	X	149013272	149013272	G	A	MAGEA8	c.226G>A	NM_001166400.1	NP_001159872.1:p.(Asp76Asn)	NC_000023.10:g.149013272G>A	(Likely) benign	1 lab	6fce3d0cba
9:117853142 TNC G>A	9	117853142	117853142	G	A	TNC	c.156C>T	NM_002160.3	NP_002151.2:p.(His52=)	NC_000009.11:g.117853142G>A	(Likely) benign	1 lab	6fce4ba6cd
5:89979630 ADGRV1 T>C	5	89979630	89979630	T	C	ADGRV1	c.5892T>C	NM_032119.4	NP_115495.3:p.(Asn1964=)	NC_000005.9:g.89979630T>C	(Likely) benign	1 lab	6fce8409a0
10:54042021 PRKG1 A>G	10	54042021	54042021	A	G	PRKG1	c.1654A>G	NM_006258.4	NP_006249.1:p.(Ile552Val)	NC_000010.10:g.54042021A>G	(Likely) benign	1 lab	6fce90ba50
17:40489539 STAT3 G>A	17	40489539	40489539	G	A	STAT3	c.711C>T	NM_139276.2	NP_644805.1:p.(Asp237=)	NC_000017.10:g.40489539G>A	(Likely) benign	1 lab	6fceebb78d
X:12725698 FRMPD4 C>T	X	12725698	12725698	C	T	FRMPD4	c.1398C>T	NM_014728.3	NP_055543.2:p.(His466=)	NC_000023.10:g.12725698C>T	(Likely) benign	1 lab	6fd08a5415
16:2104446 TSC2 G>T	16	2104446	2104446	G	T	TSC2	c.481+5G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2104446G>T	(Likely) pathogenic	1 lab	9363bc8752
6:135639731 AHI1 C>T	6	135639731	135639731	C	T	AHI1	c.3352G>A	NM_001134831.1	NP_001128303.1:p.(Glu1118Lys)	NC_000006.11:g.135639731C>T	(Likely) benign	1 lab	6fd09ce02a
X:128710511 OCRL T>TA	X	128710511	128710512	T	TA	OCRL	c.2098dup	NM_000276.3	NP_000267.2:p.(Thr700AsnfsTer26)	NC_000023.10:g.128710512dup	(Likely) pathogenic	1 lab	6fd0f29c7f
1:197113064 ASPM T>C	1	197113064	197113064	T	C	ASPM	c.441+23A>G	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197113064T>C	(Likely) benign	1 lab	6fd4d7e987
9:33953441 UBAP2 C>G	9	33953441	33953441	C	G	UBAP2	c.898G>C	NM_018449.3	NP_060919.3:p.(Val300Leu)	NC_000009.11:g.33953441C>G	(Likely) benign	1 lab	6fd6870301
X:30237196 MAGEB2 G>C	X	30237196	30237196	G	C	MAGEB2	c.499G>C	NM_002364.4	NP_002355.2:p.(Glu167Gln)	NC_000023.10:g.30237196G>C	(Likely) benign	1 lab	6fd774ba37
X:12734828 FRMPD4 C>T	X	12734828	12734828	C	T	FRMPD4	c.2250C>T	NM_014728.3	NP_055543.2:p.(Asp750=)	NC_000023.10:g.12734828C>T	(Likely) benign	1 lab	6fdc4f8ed0
13:32944474 BRCA2 GAT>G	13	32944474	32944478	GAT	G	BRCA2	c.8332-62_8332-61del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32944477_32944478del	(Likely) benign	1 lab	6fdf3a0137
5:13864728 DNAH5 C>A	5	13864728	13864728	C	A	DNAH5	c.4374G>T	NM_001369.2	NP_001360.1:p.(Arg1458=)	NC_000005.9:g.13864728C>A	(Likely) benign	1 lab	6fdf41b06b
1:235922693 LYST C>T	1	235922693	235922693	C	T	LYST	c.6460G>A	NM_001301365.1	NP_001288294.1:p.(Asp2154Asn)	NC_000001.10:g.235922693C>T	(Likely) benign	1 lab	6fe2434531
19:54314063 NLRP12 G>A	19	54314063	54314063	G	A	NLRP12	c.850C>T	NM_001277126.1	NP_001264055.1:p.(Arg284Ter)	NC_000019.9:g.54314063G>A	VUS	1 lab	6fe4327e81
1:150772129 CTSK T>C	1	150772129	150772129	T	C	CTSK	c.675A>G	NM_000396.3	NP_000387.1:p.(Arg225=)	NC_000001.10:g.150772129T>C	(Likely) benign	1 lab	6fe8429f4f
8:62416055 ASPH C>G	8	62416055	62416055	C	G	ASPH	c.2140G>C	NM_004318.3	NP_004309.2:p.(Gly714Arg)	NC_000008.10:g.62416055C>G	VUS	1 lab	6feacd05b5
13:32906502 BRCA2 A>G	13	32906502	32906502	A	G	BRCA2	c.887A>G	NM_000059.3	NP_000050.2:p.(Tyr296Cys)	NC_000013.10:g.32906502A>G	VUS	1 lab	6febd60434
8:30969173 WRN C>T	8	30969173	30969173	C	T	WRN	c.2131C>T	NM_000553.4	NP_000544.2:p.(Arg711Trp)	NC_000008.10:g.30969173C>T	VUS	1 lab	6feca149de
6:152453353 SYNE1 T>A	6	152453353	152453353	T	A	SYNE1	c.26002-4A>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152453353T>A	(Likely) benign	1 lab	6fed9b3db5
12:6128127 VWF G>A	12	6128127	6128127	G	A	VWF	c.4457C>T	NM_000552.3	NP_000543.2:p.(Ser1486Leu)	NC_000012.11:g.6128127G>A	(Likely) benign	1 lab	6feda99c7c
10:97975106 BLNK G>A	10	97975106	97975106	G	A	BLNK	c.647C>T	NM_013314.3	NP_037446.1:p.(Thr216Met)	NC_000010.10:g.97975106G>A	(Likely) benign	1 lab	6ff0b6eaef
X:153297913 MECP2 C>A	X	153297913	153297913	C	A	MECP2	c.122G>T	NM_004992.3	NP_004983.1:p.(Gly41Val)	NC_000023.10:g.153297913C>A	VUS	1 lab	6ff0cc36a0
X:21896651 MBTPS2 A>T	X	21896651	21896651	A	T	MBTPS2	c.1102A>T	NM_015884.3	NP_056968.1:p.(Thr368Ser)	NC_000023.10:g.21896651A>T	(Likely) benign	1 lab	6ff18f5a90
5:135398363 TGFBI G>C	5	135398363	135398363	G	C	TGFBI	c.1998G>C	NM_000358.2	NP_000349.1:p.(Arg666Ser)	NC_000005.9:g.135398363G>C	(Likely) pathogenic	1 lab	6ff345957d
11:44286722 ALX4 C>T	11	44286722	44286722	C	T	ALX4	c.918G>A	NM_021926.4	NP_068745.2:p.(Pro306=)	NC_000011.9:g.44286722C>T	(Likely) benign	1 lab	6ff53e85ef
6:31725978 MSH5 C>G	6	31725978	31725978	C	G	MSH5	c.1102C>G	NM_025259.6	NP_079535.4:p.(Arg368Gly)	NC_000006.11:g.31725978C>G	(Likely) benign	1 lab	f6ab6878c1
3:49742496 RNF123 G>A	3	49742496	49742496	G	A	RNF123	c.2039G>A	NM_022064.4	NP_071347.2:p.(Arg680Gln)	NC_000003.11:g.49742496G>A	VUS	1 lab	6ff652d7a6
11:1247868 MUC5B C>T	11	1247868	1247868	C	T	MUC5B	c.223C>T	NM_002458.2	NP_002449.2:p.(Arg75Trp)	NC_000011.9:g.1247868C>T	VUS	1 lab	76bb43aeaa
11:17532066 USH1C C>CCCAGGGGGTCTCAG	11	17532066	17532067	C	CCCAGGGGGTCTCAG	USH1C	c.1415_1416insCTGAGACCCCCTGG	NM_153676.3	NP_710142.1:p.(Ser473Ter)	NC_000011.9:g.17532066_17532067insCCAGGGGGTCTCAG	VUS	1 lab	6ff7f22be4
4:79353570 FRAS1 T>C	4	79353570	79353570	T	C	FRAS1	c.5029T>C	NM_025074.7	NP_079350.5:p.(Ser1677Pro)	NC_000004.11:g.79353570T>C	VUS	1 lab	6ff862b183
8:61757933 CHD7 C>G	8	61757933	61757933	C	G	CHD7				NC_000008.10:g.61757933C>G	VUS	1 lab	6ff862c733
11:9166636 DENND5A T>C	11	9166636	9166636	T	C	DENND5A	c.2740A>G	NM_001348750.1	NP_001335679.1:p.(Thr914Ala)	NC_000011.9:g.9166636T>C	VUS	1 lab	6ff88fa2e8
17:29585519 NF1 A>G	17	29585519	29585519	A	G	NF1	c.4268A>G	NM_000267.3	NP_000258.1:p.(Lys1423Arg)	NC_000017.10:g.29585519A>G	(Likely) pathogenic	1 lab	6ff9773ad0
17:73279700 SLC25A19 C>T	17	73279700	73279700	C	T	SLC25A19	c.289-26G>A	NM_001126121.2	NP_001119593.1:p.?	NC_000017.10:g.73279700C>T	(Likely) benign	1 lab	6ffae19a6a
6:152740695 SYNE1 C>A	6	152740695	152740695	C	A	SYNE1	c.5421+9G>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152740695C>A	(Likely) benign	1 lab	6ffcb6d715
2:234916750 TRPM8 A>G	2	234916750	234916750	A	G	TRPM8	c.3264+3A>G	NM_024080.5	NP_076985.4:p.?	NC_000002.11:g.234916750A>G	VUS	1 lab	6ffe5092a8
3:124438081 KALRN A>C	3	124438081	124438081	A	C	KALRN	c.8725A>C	NM_001024660.4	NP_001019831.2:p.(Asn2909His)	NC_000003.11:g.124438081A>C	VUS	1 lab	6ffe674ccb
X:99921809 SRPX2 G>A	X	99921809	99921809	G	A	SRPX2	c.840G>A	NM_014467.2	NP_055282.1:p.(Ala280=)	NC_000023.10:g.99921809G>A	(Likely) benign	1 lab	7000314974
X:102003997 GPRASP3 G>A	X	102003997	102003997	G	A	GPRASP3	c.74G>A	NM_001142524.2	NP_001135996.1:p.(Gly25Glu)	NC_000023.10:g.102003997G>A	(Likely) benign	1 lab	700047dbee
16:2136758 TSC2 GCCCA>G	16	2136758	2136764	GCCCA	G	TSC2	c.4878_4881del	NM_000548.5	NP_000539.2:p.(Thr1627ArgfsTer44)	NC_000016.9:g.2136761_2136764del	(Likely) pathogenic	1 lab	70014db24d
10:69991039 ATOH7 C>T	10	69991039	69991039	C	T	ATOH7	c.396G>A	NM_145178.3	NP_660161.1:p.(Glu132=)	NC_000010.10:g.69991039C>T	(Likely) benign	1 lab	700201e388
12:56625235 SLC39A5 G>A	12	56625235	56625235	G	A	SLC39A5	c.177G>A	NM_173596.2	NP_775867.2:p.(Ala59=)	NC_000012.11:g.56625235G>A	(Likely) benign	1 lab	70020782b3
22:38119378 TRIOBP C>A	22	38119378	38119378	C	A	TRIOBP	c.815C>A	NM_001039141.2	NP_001034230.1:p.(Thr272Lys)	NC_000022.10:g.38119378C>A	VUS	1 lab	70048388d8
X:108631840 GUCY2F T>C	X	108631840	108631840	T	C	GUCY2F	c.2834A>G	NM_001522.2	NP_001513.2:p.(Asn945Ser)	NC_000023.10:g.108631840T>C	(Likely) benign	1 lab	70049399d8
9:126135993 CRB2 G>GCCCTCGCCCTGTCTGCA	9	126135993	126136011	G	GCCCTCGCCCTGTCTGCA	CRB2	c.3185_3201dup	NM_173689.6	NP_775960.4:p.(Asp1068ProfsTer79)	NC_000009.11:g.126135995_126136011dup	VUS	1 lab	7007a2057b
9:71866002 TJP2 T>C	9	71866002	71866002	T	C	TJP2	c.3043T>C	NM_004817.4	NP_004808.2:p.(Tyr1015His)	NC_000009.11:g.71866002T>C	(Likely) benign	1 lab	70089276dc
X:153543660 TKTL1 C>T	X	153543660	153543660	C	T	TKTL1	c.1002C>T	NM_012253.3	NP_036385.3:p.(Ile334=)	NC_000023.10:g.153543660C>T	(Likely) benign	1 lab	7009a6b51d
20:33337396 NCOA6 A>C	20	33337396	33337396	A	C	NCOA6	c.2602T>G	NM_001318240.1	NP_001305169.1:p.(Cys868Gly)	NC_000020.10:g.33337396A>C	VUS	1 lab	700c1a9770
8:32406316 NRG1 G>A	8	32406316	32406316	G	A	NRG1	c.72G>A	NM_013956.4	NP_039250.2:p.(Pro24=)	NC_000008.10:g.32406316G>A	(Likely) benign	1 lab	700ca681ef
14:71485775 PCNX1 G>A	14	71485775	71485775	G	A	PCNX1	c.3046G>A	NM_014982.2	NP_055797.2:p.(Val1016Met)	NC_000014.8:g.71485775G>A	VUS	1 lab	700dccecaf
10:79781739 POLR3A G>A	10	79781739	79781739	G	A	POLR3A	c.927C>T	NM_007055.3	NP_008986.2:p.(Asp309=)	NC_000010.10:g.79781739G>A	(Likely) benign	1 lab	700fd6ab3c
21:27423513 APP C>T	21	27423513	27423513	C	T	APP	c.469-4G>A	NM_000484.3	NP_000475.1:p.?	NC_000021.8:g.27423513C>T	(Likely) benign	1 lab	700ff8d32e
14:23243250 SLC7A7 T>C	14	23243250	23243250	T	C	SLC7A7	c.1321A>G	NM_001126106.2	NP_001119578.1:p.(Ile441Val)	NC_000014.8:g.23243250T>C	(Likely) benign	1 lab	70100367f8
16:87938398 CA5A G>A	16	87938398	87938398	G	A	CA5A	c.453C>T	NM_001739.2	NP_001730.1:p.(Pro151=)	NC_000016.9:g.87938398G>A	(Likely) benign	1 lab	701005e7b8
2:217498411 IGFBP2 C>T	2	217498411	217498411	C	T	IGFBP2	c.165C>T	NM_000597.3	NP_000588.3:p.(Pro55=)	NC_000002.11:g.217498411C>T	(Likely) benign	1 lab	701190fc38
13:113742652 MISSING T>G	13	113742652	113742652	T	G	MISSING				NC_000013.10:g.113742652T>G	(Likely) benign	1 lab	70132cbfac
8:17919931 ASAH1 A>G	8	17919931	17919931	A	G	ASAH1	c.505T>C	NM_177924.5	NP_808592.2:p.(Trp169Arg)	NC_000008.10:g.17919931A>G	(Likely) pathogenic	1 lab	f6b3562a80
21:46910774 COL18A1 C>T	21	46910774	46910774	C	T	COL18A1	c.2596C>T	NM_030582.4	NP_085059.2:p.(Arg866Trp)	NC_000021.8:g.46910774C>T	VUS	1 lab	70171a3819
1:153661467 NPR1 G>A	1	153661467	153661467	G	A	NPR1	c.2456G>A	NM_000906.4	NP_000897.3:p.(Arg819His)	NC_000001.10:g.153661467G>A	VUS	1 lab	703c254eb8
7:42005768 GLI3 AC>A	7	42005768	42005769	AC	A	GLI3	c.2902del	NM_000168.6	NP_000159.3:p.(Val968TrpfsTer35)	NC_000007.13:g.42005769del	(Likely) pathogenic	1 lab	7017b2f533
14:74969424 LTBP2 C>T	14	74969424	74969424	C	T	LTBP2	c.5102G>A	NM_000428.2	NP_000419.1:p.(Arg1701His)	NC_000014.8:g.74969424C>T	(Likely) benign	1 lab	7017c959ae
5:112174535 APC A>AC	5	112174535	112174536	A	AC	APC	c.3245dup	NM_000038.4	NP_000029.2:p.(Asp1083Ter)	NC_000005.9:g.112174536dup	(Likely) pathogenic	1 lab	701900614e
10:415447 DIP2C G>A	10	415447	415447	G	A	DIP2C	c.2118C>T	NM_014974.3	NP_055789.1:p.(Leu706=)	NC_000010.10:g.415447G>A	(Likely) benign	1 lab	701c2284b5
7:70255446 AUTS2 C>T	7	70255446	70255446	C	T	AUTS2	c.3172C>T	NM_001127231.2	NP_001120703.1:p.(Leu1058Phe)	NC_000007.13:g.70255446C>T	VUS	1 lab	701c544a32
1:22207208 HSPG2 G>A	1	22207208	22207208	G	A	HSPG2	c.1942C>T	NM_001291860.1	NP_001278789.1:p.(Arg648Ter)	NC_000001.10:g.22207208G>A	(Likely) pathogenic	1 lab	701cfb7679
11:6637982 TPP1 G>A	11	6637982	6637982	G	A	TPP1	c.796C>T	NM_000391.3	NP_000382.3:p.(Arg266Trp)	NC_000011.9:g.6637982G>A	VUS	1 lab	701d3d34c3
15:45403787 DUOX2 C>A	15	45403787	45403787	C	A	DUOX2	c.514-4G>T	NM_001363711.1	NP_001350640.1:p.?	NC_000015.9:g.45403787C>A	(Likely) benign	1 lab	701e40587d
5:149743698 TCOF1 C>T	5	149743698	149743698	C	T	TCOF1	c.187C>T	NM_001135243.1	NP_001128715.1:p.(Arg63Trp)	NC_000005.9:g.149743698C>T	(Likely) benign	1 lab	701e8b1f1f
X:6975846 PUDP G>A	X	6975846	6975846	G	A	PUDP	c.529C>T	NM_001178135.1	NP_001171606.1:p.(Arg177Cys)	NC_000023.10:g.6975846G>A	VUS	1 lab	701e92be54
1:153233535 LORICRIN T>TCGG	1	153233535	153233548	T	TCGG	LORICRIN	c.121_123dup	NM_000427.3	NP_000418.2:p.(Gly41dup)	NC_000001.10:g.153233546_153233548dup	(Likely) benign	1 lab	f6b44042da
2:144714831 QTMAN T>C	2	144714831	144714831	T	C	QTMAN	c.965A>G	NM_001284238.3	NP_001271167.1:p.(Tyr322Cys)	NC_000002.11:g.144714831T>C	VUS	1 lab	f6b814cc54
17:29679274 NF1 G>T	17	29679274	29679274	G	T	NF1	c.7395-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29679274G>T	(Likely) pathogenic	1 lab	70217c377c
X:135730562 CD40LG A>C	X	135730562	135730562	A	C	CD40LG	c.155A>C	NM_000074.2	NP_000065.1:p.(Lys52Thr)	NC_000023.10:g.135730562A>C	VUS	1 lab	7021d7a4de
10:91222307 SLC16A12 T>A	10	91222307	91222307	T	A	SLC16A12	c.29A>T	NM_213606.3	NP_998771.3:p.(Asn10Ile)	NC_000010.10:g.91222307T>A	(Likely) benign	1 lab	702248b827
3:48619779 COL7A1 G>A	3	48619779	48619779	G	A	COL7A1	c.4612C>T	NM_000094.4	NP_000085.1:p.(Arg1538Cys)	NC_000003.11:g.48619779G>A	(Likely) benign	1 lab	f6b98cb981
19:50367637 PNKP C>T	19	50367637	50367637	C	T	PNKP	c.522G>A	NM_007254.3	NP_009185.2:p.(Gly174=)	NC_000019.9:g.50367637C>T	(Likely) benign	1 lab	70248dbdf3
1:182869183 SHCBP1L G>C	1	182869183	182869183	G	C	SHCBP1L	c.1897C>G	NM_030933.3	NP_112195.2:p.(Leu633Val)	NC_000001.10:g.182869183G>C	(Likely) benign	1 lab	70256aab44
17:4910548 KIF1C A>T	17	4910548	4910548	A	T	KIF1C	c.1336-10A>T	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4910548A>T	(Likely) benign	1 lab	7026c8b477
12:52408880 TAMALIN G>A	12	52408880	52408880	G	A	TAMALIN	c.1085G>A	NM_181711.3	NP_859062.1:p.(Gly362Asp)	NC_000012.11:g.52408880G>A	(Likely) benign	1 lab	7027693c81
11:6637606 TPP1 G>A	11	6637606	6637606	G	A	TPP1	c.1015C>T	NM_000391.3	NP_000382.3:p.(Arg339Trp)	NC_000011.9:g.6637606G>A	(Likely) pathogenic	1 lab	7028e2ff3e
12:88480178 CEP290 G>A	12	88480178	88480178	G	A	CEP290	c.4292C>T	NM_025114.3	NP_079390.3:p.(Ala1431Val)	NC_000012.11:g.88480178G>A	VUS	1 lab	702cd3b430
20:32441303 CHMP4B C>G	20	32441303	32441303	C	G	CHMP4B	c.612C>G	NM_176812.4	NP_789782.1:p.(Ala204=)	NC_000020.10:g.32441303C>G	(Likely) benign	1 lab	702d2abdd6
17:74468061 RHBDF2 A>G	17	74468061	74468061	A	G	RHBDF2	c.2225T>C	NM_024599.5	NP_078875.4:p.(Leu742Pro)	NC_000017.10:g.74468061A>G	VUS	1 lab	702e0021cb
6:135784326 AHI1 C>T	6	135784326	135784326	C	T	AHI1	c.868G>A	NM_001134831.1	NP_001128303.1:p.(Glu290Lys)	NC_000006.11:g.135784326C>T	VUS	1 lab	702e293445
7:123185691 NDUFA5 C>T	7	123185691	123185691	C	T	NDUFA5	c.421G>A	NM_001291304.2	NP_001278233.1:p.(Gly141Ser)	NC_000007.13:g.123185691C>T	VUS	1 lab	f6c1d52b23
5:149301207 PDE6A C>T	5	149301207	149301207	C	T	PDE6A	c.924G>A	NM_000440.2	NP_000431.2:p.(Pro308=)	NC_000005.9:g.149301207C>T	(Likely) benign	1 lab	7034160133
10:88446874 LDB3 C>T	10	88446874	88446874	C	T	LDB3	c.738C>T	NM_001171610.1	NP_001165081.1:p.(Ala246=)	NC_000010.10:g.88446874C>T	(Likely) benign	1 lab	70355d7f45
1:103412450 COL11A1 C>T	1	103412450	103412450	C	T	COL11A1	c.3267G>A	NM_080629.2	NP_542196.2:p.(Pro1089=)	NC_000001.10:g.103412450C>T	(Likely) benign	1 lab	7037428302
15:42982275 STARD9 C>A	15	42982275	42982275	C	A	STARD9	c.8499C>A	NM_020759.3	NP_065810.2:p.(Asp2833Glu)	NC_000015.9:g.42982275C>A	(Likely) benign	1 lab	703a46a9c8
X:153761205 G6PD C>T	X	153761205	153761205	C	T	G6PD	c.1093G>A	NM_000402.4	NP_000393.4:p.(Ala365Thr)	NC_000023.10:g.153761205C>T	(Likely) benign	1 lab	703a50c766
X:12734339 FRMPD4 G>A	X	12734339	12734339	G	A	FRMPD4	c.1761G>A	NM_014728.3	NP_055543.2:p.(Met587Ile)	NC_000023.10:g.12734339G>A	(Likely) benign	1 lab	703ab06159
1:1425734 ATAD3B GAGGAGCGGGAGCGCCTGGTGAGACTGCATTTTGACAACTGTGT>G	1	1425734	1425777	GAGGAGCGGGAGCGCCTGGTGAGACTGCATTTTGACAACTGTGT	G	ATAD3B	c.1436_1478del	NM_031921.6	NP_114127.3:p.(Glu479ValfsTer12)	NC_000001.10:g.1425735_1425777del	VUS	1 lab	703af9f15a
4:10079506 WDR1 C>T	4	10079506	10079506	C	T	WDR1	c.1440G>A	NM_017491.4	NP_059830.1:p.(Lys480=)	NC_000004.11:g.10079506C>T	(Likely) benign	1 lab	703e85570c
17:59557443 TBX4 C>A	17	59557443	59557443	C	A	TBX4	c.792-8C>A	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59557443C>A	(Likely) benign	1 lab	703f61bb05
11:47353394 MYBPC3 A>G	11	47353394	47353394	A	G	MYBPC3	c.*26+2T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353394A>G	VUS	1 lab	f6c4f60c27
16:89348949 ANKRD11 G>A	16	89348949	89348949	G	A	ANKRD11	c.4001C>T	NM_001256182.1	NP_001243111.1:p.(Pro1334Leu)	NC_000016.9:g.89348949G>A	(Likely) benign	1 lab	7040371087
20:2644407 IDH3B C>G	20	2644407	2644407	C	G	IDH3B	c.118-3G>C	NM_006899.5	NP_008830.2:p.?	NC_000020.10:g.2644407C>G	(Likely) benign	1 lab	f6c540452a
17:29556484 NF1 G>T	17	29556484	29556484	G	T	NF1	c.2850+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556484G>T	(Likely) pathogenic	1 lab	7040a1a67b
15:86286870 AKAP13 C>T	15	86286870	86286870	C	T	AKAP13	c.8218C>T	NM_006738.5	NP_006729.4:p.(Arg2740Trp)	NC_000015.9:g.86286870C>T	VUS	1 lab	70426a264f
9:139391309 NOTCH1 CA>C	9	139391309	139391310	CA	C	NOTCH1	c.6881del	NM_017617.5	NP_060087.3:p.(Leu2294ArgfsTer11)	NC_000009.11:g.139391310del	(Likely) pathogenic	1 lab	70431668d2
3:123456234 MYLK A>C	3	123456234	123456234	A	C	MYLK	c.745T>G	NM_053025.3	NP_444253.3:p.(Ser249Ala)	NC_000003.11:g.123456234A>C	VUS	1 lab	7044a560e2
13:52598748 ALG11 GA>G	13	52598748	52598753	GA	G	ALG11	c.887del	NM_001004127.3	NP_001004127.2:p.(Lys296ArgfsTer2)	NC_000013.10:g.52598753del	(Likely) pathogenic	1 lab	7044d7e050
19:3902527 ATCAY G>A	19	3902527	3902527	G	A	ATCAY	c.120G>A	NM_033064.4	NP_149053.1:p.(Pro40=)	NC_000019.9:g.3902527G>A	(Likely) benign	1 lab	7045a5b66c
5:13922252 DNAH5 G>A	5	13922252	13922252	G	A	DNAH5	c.624C>T	NM_001369.2	NP_001360.1:p.(Asn208=)	NC_000005.9:g.13922252G>A	(Likely) benign	1 lab	7045c9053e
X:128926408 SASH3 G>A	X	128926408	128926408	G	A	SASH3	c.547G>A	NM_018990.3	NP_061863.1:p.(Asp183Asn)	NC_000023.10:g.128926408G>A	VUS	1 lab	7045ce889d
1:45809017 TOE1 G>A	1	45809017	45809017	G	A	TOE1	c.1176G>A	NM_025077.4	NP_079353.3:p.(Leu392=)	NC_000001.10:g.45809017G>A	(Likely) benign	1 lab	7047b67384
16:11118702 CLEC16A C>T	16	11118702	11118702	C	T	CLEC16A	c.1461C>T	NM_015226.2	NP_056041.1:p.(His487=)	NC_000016.9:g.11118702C>T	(Likely) benign	1 lab	704821ebf5
11:62446216 UBXN1 C>CT	11	62446216	62446217	C	CT	UBXN1	c.60-2dup	NM_015853.4	NP_056937.2:p.?	NC_000011.9:g.62446217dup	VUS	1 lab	7049638cec
X:43591036 MAOA G>T	X	43591036	43591036	G	T	MAOA	c.492G>T	NM_001270458.2	NP_001257387.1:p.(Arg164=)	NC_000023.10:g.43591036G>T	(Likely) benign	1 lab	f6c70f37ab
6:162622239 PRKN G>C	6	162622239	162622239	G	C	PRKN	c.458C>G	NM_004562.2	NP_004553.2:p.(Pro153Arg)	NC_000006.11:g.162622239G>C	VUS	1 lab	704ad84ba8
13:86370362 SLITRK6 G>A	13	86370362	86370362	G	A	SLITRK6	c.282C>T	NM_032229.3	NP_115605.2:p.(His94=)	NC_000013.10:g.86370362G>A	(Likely) benign	1 lab	704afb20f7
11:71819790 LRTOMT C>T	11	71819790	71819790	C	T	LRTOMT	c.695C>T	NM_001145309.3	NP_001138781.1:p.(Ala232Val)	NC_000011.9:g.71819790C>T	VUS	1 lab	704c184b6c
16:46705645 VPS35 C>T	16	46705645	46705645	C	T	VPS35	c.1496G>A	NM_018206.5	NP_060676.2:p.(Arg499His)	NC_000016.9:g.46705645C>T	(Likely) benign	1 lab	704c397fe4
17:76472676 DNAH17 G>A	17	76472676	76472676	G	A	DNAH17	c.8132C>T	NM_173628.3	NP_775899.3:p.(Ala2711Val)	NC_000017.10:g.76472676G>A	(Likely) benign	1 lab	704cd04195
9:2076261 SMARCA2 C>T	9	2076261	2076261	C	T	SMARCA2	c.1968C>T	NM_003070.4	NP_003061.3:p.(Thr656=)	NC_000009.11:g.2076261C>T	(Likely) benign	1 lab	704d945817
17:29550438 NF1 A>G	17	29550438	29550438	A	G	NF1	c.1722-24A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550438A>G	(Likely) benign	1 lab	704dda85dc
9:135204884 SETX C>T	9	135204884	135204884	C	T	SETX	c.2101G>A	NM_001351527.1	NP_001338456.1:p.(Ala701Thr)	NC_000009.11:g.135204884C>T	(Likely) benign	1 lab	704e21b5aa
14:74973898 LTBP2 C>T	14	74973898	74973898	C	T	LTBP2	c.3891G>A	NM_000428.2	NP_000419.1:p.(Pro1297=)	NC_000014.8:g.74973898C>T	(Likely) benign	1 lab	704e823ed4
1:228407032 OBSCN G>A	1	228407032	228407032	G	A	OBSCN	c.2661G>A	NM_001271223.2	NP_001258152.2:p.(Lys887=)	NC_000001.10:g.228407032G>A	(Likely) benign	1 lab	704eaca9d9
X:153175521 ARHGAP4 G>A	X	153175521	153175521	G	A	ARHGAP4	c.2295C>T	NM_001164741.1	NP_001158213.1:p.(Ser765=)	NC_000023.10:g.153175521G>A	(Likely) benign	1 lab	704ed37599
11:77817846 ALG8 T>C	11	77817846	77817846	T	C	ALG8	c.1178+7A>G	NM_001007027.2	NP_001007028.1:p.?	NC_000011.9:g.77817846T>C	(Likely) benign	1 lab	70513d2d51
13:45148825 TSC22D1 C>A	13	45148825	45148825	C	A	TSC22D1	c.1386G>T	NM_183422.3	NP_904358.2:p.(Arg462Ser)	NC_000013.10:g.45148825C>A	VUS	1 lab	7052b1521e
22:32889110 FBXO7 T>C	22	32889110	32889110	T	C	FBXO7	c.986T>C	NM_012179.3	NP_036311.3:p.(Val329Ala)	NC_000022.10:g.32889110T>C	(Likely) benign	1 lab	7053f7cc7e
X:129801614 ENOX2 G>A	X	129801614	129801614	G	A	ENOX2	c.884C>T	NM_182314.2	NP_872114.1:p.(Ser295Leu)	NC_000023.10:g.129801614G>A	VUS	1 lab	7058bf03ad
21:47775389 PCNT C>T	21	47775389	47775389	C	T	PCNT	c.1784C>T	NM_006031.5	NP_006022.3:p.(Ala595Val)	NC_000021.8:g.47775389C>T	(Likely) benign	1 lab	70596f2a1d
19:36209226 KMT2B C>A	19	36209226	36209226	C	A	KMT2B	c.306C>A	NM_014727.2	NP_055542.1:p.(Gly102=)	NC_000019.9:g.36209226C>A	(Likely) benign	1 lab	705a011054
11:94200962 MRE11 A>G	11	94200962	94200962	A	G	MRE11	c.1098+17T>C	NM_005591.3	NP_005582.1:p.?	NC_000011.9:g.94200962A>G	(Likely) benign	1 lab	705c2442c8
2:179413914 TTN A>T	2	179413914	179413914	A	T	TTN	c.92439T>A	NM_001267550.1	NP_001254479.1:p.(Ile30813=)	NC_000002.11:g.179413914A>T	(Likely) benign	1 lab	705c58c31b
X:101911927 GPRASP1 C>G	X	101911927	101911927	C	G	GPRASP1	c.3086C>G	NM_001184727.1	NP_001171656.1:p.(Thr1029Arg)	NC_000023.10:g.101911927C>G	(Likely) benign	1 lab	706068c028
16:2106619 TSC2 G>T	16	2106619	2106619	G	T	TSC2	c.649-26G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106619G>T	(Likely) benign	1 lab	7061ddec90
12:50045892 FMNL3 C>T	12	50045892	50045892	C	T	FMNL3	c.1427G>A	NM_001367835.1	NP_001354764.1:p.(Arg476Gln)	NC_000012.11:g.50045892C>T	(Likely) benign	1 lab	706236818e
8:31498237 NRG1 A>G	8	31498237	31498237	A	G	NRG1	c.737A>G	NM_013962.2	NP_039256.2:p.(Lys246Arg)	NC_000008.10:g.31498237A>G	(Likely) benign	1 lab	7062f06d8e
6:38690850 DNAH8 G>A	6	38690850	38690850	G	A	DNAH8	c.265G>A	NM_001206927.1	NP_001193856.1:p.(Ala89Thr)	NC_000006.11:g.38690850G>A	VUS	1 lab	70633c766f
14:105407115 AHNAK2 T>A	14	105407115	105407115	T	A	AHNAK2	c.14673A>T	NM_138420.3	NP_612429.2:p.(Pro4891=)	NC_000014.8:g.105407115T>A	(Likely) benign	1 lab	7063940084
18:56376624 MALT1 G>A	18	56376624	56376624	G	A	MALT1	c.664G>A	NM_006785.4	NP_006776.1:p.(Val222Ile)	NC_000018.9:g.56376624G>A	(Likely) benign	1 lab	7068f45fb6
1:152328154 FLG2 GA>G	1	152328154	152328155	GA	G	FLG2	c.2107del	NM_001014342.3	NP_001014364.1:p.(Ser703HisfsTer22)	NC_000001.10:g.152328155del	(Likely) pathogenic	1 lab	706b480d3e
5:153372650 FAM114A2 G>A	5	153372650	153372650	G	A	FAM114A2	c.1404C>T	NM_018691.4	NP_061161.2:p.(Tyr468=)	NC_000005.9:g.153372650G>A	(Likely) benign	1 lab	706bcda1b0
21:46910741 COL18A1 T>A	21	46910741	46910741	T	A	COL18A1	c.2032-9T>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46910741T>A	VUS	1 lab	706c4ec046
20:57429778 GNAS TGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAA>T	20	57429778	57429850	TGTCGCCCCAGCTGCGCCAGACGCAGGGGCTCCCACTGCCCCAGCCGCTTCTGCCACCCGGGCAGCCCAA	T	GNAS	c.1275_1343del	NM_001077490.3	NP_001070958.1:p.(Pro426_Ser448del)	NC_000020.10:g.57429782_57429850del	VUS	1 lab	f6c937464b
19:8595222 MYO1F T>C	19	8595222	8595222	T	C	MYO1F	c.2186A>G	NM_012335.3	NP_036467.2:p.(Glu729Gly)	NC_000019.9:g.8595222T>C	VUS	1 lab	706d203ac9
X:91090515 PCDH11X G>T	X	91090515	91090515	G	T	PCDH11X	c.12G>T	NM_032968.4	NP_116750.1:p.(Leu4Phe)	NC_000023.10:g.91090515G>T	(Likely) benign	1 lab	706d6ed735
19:10284554 DNMT1 T>C	19	10284554	10284554	T	C	DNMT1	c.628A>G	NM_001379.3	NP_001370.1:p.(Arg210Gly)	NC_000019.9:g.10284554T>C	(Likely) benign	1 lab	706ecb1282
15:90934008 IQGAP1 G>A	15	90934008	90934008	G	A	IQGAP1	c.58G>A	NM_003870.3	NP_003861.1:p.(Val20Ile)	NC_000015.9:g.90934008G>A	(Likely) benign	1 lab	706f8a0d59
X:16168497 GRPR C>T	X	16168497	16168497	C	T	GRPR	c.483C>T	NM_005314.2	NP_005305.1:p.(Ala161=)	NC_000023.10:g.16168497C>T	(Likely) benign	1 lab	706fc5578c
9:135781379 TSC1 G>A	9	135781379	135781379	G	A	TSC1	c.1586C>T	NM_000368.4	NP_000359.1:p.(Ala529Val)	NC_000009.11:g.135781379G>A	(Likely) benign	1 lab	7070a966bd
16:2159732 PKD1 G>C	16	2159732	2159732	G	C	PKD1	c.5436C>G	NM_001009944.2	NP_001009944.2:p.(Pro1812=)	NC_000016.9:g.2159732G>C	(Likely) benign	1 lab	7071258be8
6:152638005 SYNE1 C>T	6	152638005	152638005	C	T	SYNE1	c.16689G>A	NM_182961.3	NP_892006.3:p.(Arg5563=)	NC_000006.11:g.152638005C>T	(Likely) benign	1 lab	70716a8527
11:22272368 ANO5 A>G	11	22272368	22272368	A	G	ANO5	c.1095A>G	NM_213599.2	NP_998764.1:p.(Leu365=)	NC_000011.9:g.22272368A>G	(Likely) benign	1 lab	7073c5e604
2:185802089 ZNF804A C>T	2	185802089	185802089	C	T	ZNF804A	c.1966C>T	NM_194250.1	NP_919226.1:p.(Leu656Phe)	NC_000002.11:g.185802089C>T	(Likely) benign	1 lab	7073c7cd80
17:29576013 NF1 C>CAG	17	29576013	29576019	C	CAG	NF1	c.3991_3992dup	NM_000267.3	NP_000258.1:p.(Ser1331ArgfsTer13)	NC_000017.10:g.29576018_29576019dup	(Likely) pathogenic	1 lab	70746ba2f4
X:153595161 FLNA C>A	X	153595161	153595161	C	A	FLNA	c.926G>T	NM_001110556.2	NP_001104026.1:p.(Arg309Ile)	NC_000023.10:g.153595161C>A	(Likely) benign	1 lab	7075c085f3
9:35739031 GBA2 C>T	9	35739031	35739031	C	T	GBA2	c.1763G>A	NM_020944.2	NP_065995.1:p.(Arg588Lys)	NC_000009.11:g.35739031C>T	(Likely) benign	1 lab	707624c7ee
2:145157727 ZEB2 G>A	2	145157727	145157727	G	A	ZEB2	c.1027C>T	NM_014795.3	NP_055610.1:p.(Arg343Ter)	NC_000002.11:g.145157727G>A	(Likely) pathogenic	1 lab	707710e7b5
15:60792153 RORA T>C	15	60792153	60792153	T	C	RORA	c.1345A>G	NM_134261.3	NP_599023.1:p.(Ile449Val)	NC_000015.9:g.60792153T>C	VUS	1 lab	f6cd06f6ae
7:99704283 AP4M1 G>A	7	99704283	99704283	G	A	AP4M1	c.1140G>A	NM_004722.3	NP_004713.2:p.(Met380Ile)	NC_000007.13:g.99704283G>A	(Likely) benign	1 lab	7078a655e9
19:17941304 JAK3 C>T	19	17941304	17941304	C	T	JAK3	c.3096+8G>A	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17941304C>T	(Likely) benign	1 lab	7079704e19
11:108128211 ATM C>G	11	108128211	108128211	C	G	ATM	c.2254C>G	NM_000051.4	NP_000042.3:p.(Leu752Val)	NC_000011.9:g.108128211C>G	VUS	1 lab	f6d02b7cd5
1:235944348 LYST C>T	1	235944348	235944348	C	T	LYST	c.5031G>A	NM_001301365.1	NP_001288294.1:p.(Lys1677=)	NC_000001.10:g.235944348C>T	(Likely) benign	1 lab	707999ac2b
X:102755192 RAB40A C>CT	X	102755192	102755193	C	CT	RAB40A	c.492dup	NM_080879.2	NP_543155.2:p.(Glu165ArgfsTer65)	NC_000023.10:g.102755193dup	VUS	1 lab	707a3d5cc5
16:20975546 DNAH3 T>C	16	20975546	20975546	T	C	DNAH3	c.9522A>G	NM_001347886.1	NP_001334815.1:p.(Lys3174=)	NC_000016.9:g.20975546T>C	(Likely) benign	1 lab	7081fa74c7
9:71836408 TJP2 C>T	9	71836408	71836408	C	T	TJP2	c.948C>T	NM_004817.4	NP_004808.2:p.(Asn316=)	NC_000009.11:g.71836408C>T	(Likely) benign	1 lab	70840affcc
18:44122749 LOXHD1 G>A	18	44122749	44122749	G	A	LOXHD1	c.3689C>T	NM_144612.6	NP_653213.6:p.(Thr1230Met)	NC_000018.9:g.44122749G>A	VUS	1 lab	7084f3eb95
7:42012028 GLI3 CCT>C	7	42012028	42012030	CCT	C	GLI3	c.2009_2010del	NM_000168.6	NP_000159.3:p.(Gln670ArgfsTer5)	NC_000007.13:g.42012029_42012030del	(Likely) pathogenic	1 lab	708568380f
X:69370091 IGBP1 A>G	X	69370091	69370091	A	G	IGBP1	c.790A>G	NM_001551.2	NP_001542.1:p.(Thr264Ala)	NC_000023.10:g.69370091A>G	VUS	1 lab	7085ebbc4e
3:138664931 FOXL2 G>C	3	138664931	138664931	G	C	FOXL2	c.634C>G	NM_023067.4	NP_075555.1:p.(Pro212Ala)	NC_000003.11:g.138664931G>C	VUS	1 lab	708a4b963e
1:3334441 PRDM16 T>C	1	3334441	3334441	T	C	PRDM16	c.2741T>C	NM_022114.3	NP_071397.3:p.(Met914Thr)	NC_000001.10:g.3334441T>C	VUS	1 lab	708a8cfec4
X:69665177 DLG3 T>A	X	69665177	69665177	T	A	DLG3	c.126T>A	NM_021120.3	NP_066943.2:p.(Gly42=)	NC_000023.10:g.69665177T>A	(Likely) benign	1 lab	708b95d3eb
15:94882633 MCTP2 A>G	15	94882633	94882633	A	G	MCTP2	c.752A>G	NM_018349.4	NP_060819.3:p.(Gln251Arg)	NC_000015.9:g.94882633A>G	VUS	1 lab	f6d246b1d5
11:85365116 TMEM126A T>G	11	85365116	85365116	T	G	TMEM126A	c.96T>G	NM_032273.3	NP_115649.1:p.(Leu32=)	NC_000011.9:g.85365116T>G	(Likely) benign	1 lab	708d9c7307
15:44951416 SPG11 A>G	15	44951416	44951416	A	G	SPG11	c.528T>C	NM_025137.3	NP_079413.3:p.(Ile176=)	NC_000015.9:g.44951416A>G	(Likely) benign	1 lab	7090491437
2:179647015 TTN C>T	2	179647015	179647015	C	T	TTN	c.3304G>A	NM_001267550.1	NP_001254479.1:p.(Gly1102Arg)	NC_000002.11:g.179647015C>T	VUS	1 lab	7090b60379
17:29559089 NF1 A>T	17	29559089	29559089	A	T	NF1	c.3198-2A>T	NM_001042492.2	NP_001035957.1:p.?	NC_000017.10:g.29559089A>T	(Likely) pathogenic	1 lab	7092575f7d
10:88441369 LDB3 C>A	10	88441369	88441369	C	A	LDB3	c.498C>A	NM_007078.2	NP_009009.1:p.(Ala166=)	NC_000010.10:g.88441369C>A	(Likely) benign	1 lab	7092abe185
X:15800726 CA5B A>G	X	15800726	15800726	A	G	CA5B	c.893A>G	NM_007220.3	NP_009151.1:p.(His298Arg)	NC_000023.10:g.15800726A>G	(Likely) benign	1 lab	70946c107b
1:22206942 HSPG2 G>A	1	22206942	22206942	G	A	HSPG2	c.2109C>T	NM_005529.7	NP_005520.4:p.(Ala703=)	NC_000001.10:g.22206942G>A	(Likely) benign	1 lab	f6d3930d85
X:56590338 UBQLN2 C>G	X	56590338	56590338	C	G	UBQLN2	c.32C>G	NM_013444.3	NP_038472.2:p.(Pro11Arg)	NC_000023.10:g.56590338C>G	VUS	1 lab	709ae29da8
12:80696419 OTOGL A>G	12	80696419	80696419	A	G	OTOGL	c.3042A>G	NM_173591.3	NP_775862.3:p.(Gln1014=)	NC_000012.11:g.80696419A>G	(Likely) benign	1 lab	709b223e9f
15:85327966 ZNF592 C>T	15	85327966	85327966	C	T	ZNF592	c.2060C>T	NM_014630.2	NP_055445.2:p.(Ser687Leu)	NC_000015.9:g.85327966C>T	(Likely) benign	1 lab	709e880534
17:29663904 NF1 G>A	17	29663904	29663904	G	A	NF1	c.6336G>A	NM_000267.3	NP_000258.1:p.(Leu2112=)	NC_000017.10:g.29663904G>A	(Likely) benign	1 lab	709e914d01
14:76349196 TTLL5 C>T	14	76349196	76349196	C	T	TTLL5	c.3691C>T	NM_015072.4	NP_055887.3:p.(Pro1231Ser)	NC_000014.8:g.76349196C>T	VUS	1 lab	709e92c3b8
X:154743674 TMLHE T>C	X	154743674	154743674	T	C	TMLHE	c.611A>G	NM_018196.3	NP_060666.1:p.(Lys204Arg)	NC_000023.10:g.154743674T>C	(Likely) benign	1 lab	70a0ca34f8
11:72004580 CLPB G>A	11	72004580	72004580	G	A	CLPB	c.1955C>T	NM_030813.6	NP_110440.1:p.(Thr652Met)	NC_000011.9:g.72004580G>A	VUS	1 lab	70a0de1cdf
13:20717201 GJA3 C>A	13	20717201	20717201	C	A	GJA3	c.227G>T	NM_021954.3	NP_068773.2:p.(Arg76Leu)	NC_000013.10:g.20717201C>A	(Likely) pathogenic	1 lab	70a270f2bd
X:107404938 COL4A6 C>A	X	107404938	107404938	C	A	COL4A6	c.4295G>T	NM_001287758.1	NP_001274687.1:p.(Gly1432Val)	NC_000023.10:g.107404938C>A	VUS	1 lab	70a3025ad1
11:78433927 TENM4 C>A	11	78433927	78433927	C	A	TENM4	c.3586G>T	NM_001098816.2	NP_001092286.2:p.(Val1196Leu)	NC_000011.9:g.78433927C>A	(Likely) benign	1 lab	70a36e8e02
3:13395445 NUP210 C>G	3	13395445	13395445	C	G	NUP210	c.2491G>C	NM_024923.4	NP_079199.2:p.(Asp831His)	NC_000003.11:g.13395445C>G	VUS	1 lab	70a3a607e1
16:50821696 CYLD G>C	16	50821696	50821696	G	C	CYLD	c.2042-1G>C	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50821696G>C	(Likely) pathogenic	1 lab	70a40ad3a4
16:83948848 MLYCD C>T	16	83948848	83948848	C	T	MLYCD	c.1236C>T	NM_012213.2	NP_036345.2:p.(Arg412=)	NC_000016.9:g.83948848C>T	(Likely) benign	1 lab	70a4123fb9
7:5760722 RNF216 A>G	7	5760722	5760722	A	G	RNF216	c.1586T>C	NM_207111.3	NP_996994.1:p.(Leu529Pro)	NC_000007.13:g.5760722A>G	VUS	1 lab	70a4e8b6f4
10:78651358 KCNMA1 C>T	10	78651358	78651358	C	T	KCNMA1	c.3195G>A	NM_001322830.1	NP_001309759.1:p.(Pro1065=)	NC_000010.10:g.78651358C>T	(Likely) benign	1 lab	70a5d50190
X:54492162 FGD1 G>A	X	54492162	54492162	G	A	FGD1	c.1464C>T	NM_004463.2	NP_004454.2:p.(Ser488=)	NC_000023.10:g.54492162G>A	(Likely) benign	1 lab	70a5e0159e
17:73751243 ITGB4 C>T	17	73751243	73751243	C	T	ITGB4	c.4456C>T	NM_001005619.1	NP_001005619.1:p.(Arg1486Ter)	NC_000017.10:g.73751243C>T	(Likely) pathogenic	1 lab	f6d88c45c6
X:153008708 ABCD1 C>T	X	153008708	153008708	C	T	ABCD1	c.1899C>T	NM_000033.3	NP_000024.2:p.(Ser633=)	NC_000023.10:g.153008708C>T	(Likely) benign	1 lab	70aa0c93b9
3:47129661 SETD2 C>T	3	47129661	47129661	C	T	SETD2	c.5219G>A	NM_014159.7	NP_054878.5:p.(Arg1740Gln)	NC_000003.11:g.47129661C>T	(Likely) pathogenic	1 lab	f6dad92e4e
11:6415577 SMPD1 G>A	11	6415577	6415577	G	A	SMPD1	c.715G>A	NM_001318088.1	NP_001305017.1:p.(Gly239Arg)	NC_000011.9:g.6415577G>A	(Likely) benign	1 lab	70aae15e70
19:40398361 FCGBP C>T	19	40398361	40398361	C	T	FCGBP	c.6606G>A	NM_003890.2	NP_003881.2:p.(Ala2202=)	NC_000019.9:g.40398361C>T	(Likely) benign	1 lab	70ab89a3d1
10:122280589 PLPP4 C>G	10	122280589	122280589	C	G	PLPP4	c.427C>G	NM_001030059.2	NP_001025230.1:p.(Pro143Ala)	NC_000010.10:g.122280589C>G	VUS	1 lab	70acb9935e
10:134218480 PWWP2B G>A	10	134218480	134218480	G	A	PWWP2B	c.476G>A	NM_138499.4	NP_612508.3:p.(Arg159His)	NC_000010.10:g.134218480G>A	VUS	1 lab	70aeaf0fda
X:49074960 CACNA1F C>T	X	49074960	49074960	C	T	CACNA1F	c.2915G>A	NM_005183.3	NP_005174.2:p.(Arg972Gln)	NC_000023.10:g.49074960C>T	VUS	1 lab	70aeb0b1e7
8:145665804 TONSL T>C	8	145665804	145665804	T	C	TONSL	c.1220A>G	NM_013432.5	NP_038460.4:p.(Tyr407Cys)	NC_000008.10:g.145665804T>C	VUS	1 lab	70af8ad05f
X:99888952 TSPAN6 A>G	X	99888952	99888952	A	G	TSPAN6	c.162T>C	NM_001278740.1	NP_001265669.1:p.(His54=)	NC_000023.10:g.99888952A>G	(Likely) benign	1 lab	70b3172734
1:152191285 HRNR C>G	1	152191285	152191285	C	G	HRNR	c.2820G>C	NM_001009931.2	NP_001009931.1:p.(Gln940His)	NC_000001.10:g.152191285C>G	(Likely) benign	1 lab	70b33f4f45
1:17316771 ATP13A2 G>C	1	17316771	17316771	G	C	ATP13A2	c.2248C>G	NM_001141973.2	NP_001135445.1:p.(Gln750Glu)	NC_000001.10:g.17316771G>C	VUS	1 lab	70b569dd75
16:2138588 TSC2 G>GAGGACTTCAC	16	2138588	2138598	G	GAGGACTTCAC	TSC2	c.5402_5411dup	NM_000548.3	NP_000539.2:p.(Glu1805GlyfsTer?)	NC_000016.9:g.2138589_2138598dup	(Likely) pathogenic	1 lab	70b712cfa4
2:179498616 TTN T>TC	2	179498616	179498617	T	TC	TTN	c.42609dup	NM_001267550.2	NP_001254479.2:p.(Thr14204AspfsTer4)	NC_000002.11:g.179498617dup	(Likely) pathogenic	1 lab	f6dccf8808
2:186659971 FSIP2 A>G	2	186659971	186659971	A	G	FSIP2	c.8108A>G	NM_173651.3	NP_775922.3:p.(Lys2703Arg)	NC_000002.11:g.186659971A>G	(Likely) benign	1 lab	70ba429da3
6:31601179 PRRC2A C>T	6	31601179	31601179	C	T	PRRC2A	c.4343C>T	NM_004638.3	NP_004629.3:p.(Pro1448Leu)	NC_000006.11:g.31601179C>T	VUS	1 lab	70baa026c5
11:62444430 UBXN1 C>G	11	62444430	62444430	C	G	UBXN1	c.699G>C	NM_015853.4	NP_056937.2:p.(Arg233=)	NC_000011.9:g.62444430C>G	(Likely) benign	1 lab	70bb0695dd
13:110838703 COL4A1 T>C	13	110838703	110838703	T	C	COL4A1	c.1897+29A>G	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110838703T>C	(Likely) benign	1 lab	70c597e813
4:183635235 TENM3 G>A	4	183635235	183635235	G	A	TENM3	c.2222-5G>A	NM_001080477.3	NP_001073946.1:p.?	NC_000004.11:g.183635235G>A	(Likely) benign	1 lab	70bc8fc744
X:152097208 ZNF185 A>G	X	152097208	152097208	A	G	ZNF185	c.914+3A>G	NM_001178106.1	NP_001171577.1:p.?	NC_000023.10:g.152097208A>G	(Likely) benign	1 lab	70bc9c0522
16:21065803 DNAH3 C>T	16	21065803	21065803	C	T	DNAH3	c.3839G>A	NM_001347886.1	NP_001334815.1:p.(Arg1280Gln)	NC_000016.9:g.21065803C>T	VUS	1 lab	70bd589dab
16:89831298 FANCA G>A	16	89831298	89831298	G	A	FANCA	c.2778C>T	NM_001286167.2	NP_001273096.1:p.(His926=)	NC_000016.9:g.89831298G>A	(Likely) benign	1 lab	70bdc82818
11:78369434 TENM4 G>C	11	78369434	78369434	G	C	TENM4	c.7979C>G	NM_001098816.2	NP_001092286.2:p.(Thr2660Ser)	NC_000011.9:g.78369434G>C	VUS	1 lab	70bea802e4
4:176923491 GPM6A C>A	4	176923491	176923491	C	A	GPM6A	c.251G>T	NM_001261447.1	NP_001248376.1:p.(Gly84Val)	NC_000004.11:g.176923491C>A	VUS	1 lab	70c123f2b6
X:153582019 FLNA G>A	X	153582019	153582019	G	A	FLNA	c.5763C>T	NM_001110556.2	NP_001104026.1:p.(Ser1921=)	NC_000023.10:g.153582019G>A	(Likely) benign	1 lab	70c148a8cf
13:29041719 FLT1 G>T	13	29041719	29041719	G	T	FLT1	c.100C>A	NM_002019.4	NP_002010.2:p.(Leu34Met)	NC_000013.10:g.29041719G>T	VUS	1 lab	70c18503d6
9:139369419 SEC16A A>G	9	139369419	139369419	A	G	SEC16A	c.2649T>C	NM_014866.1	NP_055681.1:p.(Thr883=)	NC_000009.11:g.139369419A>G	(Likely) benign	1 lab	70c2dee80d
4:663857 PDE6B C>T	4	663857	663857	C	T	PDE6B	c.2526C>T	NM_000283.3	NP_000274.2:p.(Gly842=)	NC_000004.11:g.663857C>T	(Likely) benign	1 lab	70c32d0be8
X:15333621 ASB11 G>T	X	15333621	15333621	G	T	ASB11	c.107C>A	NM_080873.2	NP_543149.1:p.(Thr36Asn)	NC_000023.10:g.15333621G>T	VUS	1 lab	70c3e5a8d2
11:8737302 DENND2B G>A	11	8737302	8737302	G	A	DENND2B	c.1693C>T	NM_005418.3	NP_005409.3:p.(Arg565Trp)	NC_000011.9:g.8737302G>A	VUS	1 lab	70c5ce7861
3:123003559 ADCY5 G>C	3	123003559	123003559	G	C	ADCY5	c.3682C>G	NM_183357.2	NP_899200.1:p.(Leu1228Val)	NC_000003.11:g.123003559G>C	VUS	1 lab	70c5eb3793
7:30066006 FKBP14 C>G	7	30066006	30066006	C	G	FKBP14	c.119G>C	NM_017946.3	NP_060416.1:p.(Arg40Pro)	NC_000007.13:g.30066006C>G	VUS	1 lab	70c64597b9
3:49141093 QARS1 C>T	3	49141093	49141093	C	T	QARS1	c.422G>A	NM_005051.2	NP_005042.1:p.(Arg141His)	NC_000003.11:g.49141093C>T	VUS	1 lab	70c68af007
2:48027520 MSH6 G>C	2	48027520	48027520	G	C	MSH6	c.2398G>C	NM_000179.2	NP_000170.1:p.(Val800Leu)	NC_000002.11:g.48027520G>C	VUS	1 lab	70c9fdcfc2
2:197199214 HECW2 G>A	2	197199214	197199214	G	A	HECW2	c.429C>T	NM_020760.3	NP_065811.1:p.(Tyr143=)	NC_000002.11:g.197199214G>A	(Likely) benign	1 lab	70ca0cac64
15:28273167 OCA2 G>A	15	28273167	28273167	G	A	OCA2	c.365C>T	NM_000275.2	NP_000266.2:p.(Thr122Ile)	NC_000015.9:g.28273167G>A	(Likely) benign	1 lab	70cae5fddd
X:37027810 FAM47C C>A	X	37027810	37027810	C	A	FAM47C	c.1327C>A	NM_001013736.2	NP_001013758.1:p.(Pro443Thr)	NC_000023.10:g.37027810C>A	VUS	1 lab	70cb4a6112
11:2930594 SLC67A1 CG>C	11	2930594	2930600	CG	C	SLC67A1	c.403+14del	NM_183233.3	NP_899056.2:p.?	NC_000011.9:g.2930600del	(Likely) benign	1 lab	f6dd7419b9
22:50528530 MOV10L1 G>T	22	50528530	50528530	G	T	MOV10L1	c.13G>T	NM_018995.3	NP_061868.1:p.(Ala5Ser)	NC_000022.10:g.50528530G>T	(Likely) benign	1 lab	70cbd29543
7:42004314 GLI3 GC>AA	7	42004314	42004315	GC	AA	GLI3	c.4356_4357delinsTT	NM_000168.5	NP_000159.3:p.(Gln1452delinsHisTer)	NC_000007.13:g.42004314_42004315delinsAA	(Likely) pathogenic	1 lab	70cf27dcac
2:171705865 GAD1 C>T	2	171705865	171705865	C	T	GAD1	c.1184+5C>T	NM_000817.2	NP_000808.2:p.?	NC_000002.11:g.171705865C>T	(Likely) benign	1 lab	70cf5b7127
4:79366681 FRAS1 C>T	4	79366681	79366681	C	T	FRAS1	c.5671C>T	NM_025074.7	NP_079350.5:p.(Arg1891Cys)	NC_000004.11:g.79366681C>T	VUS	1 lab	70d0d8331c
1:216251655 USH2A G>A	1	216251655	216251655	G	A	USH2A	c.5348C>T	NM_206933.2	NP_996816.2:p.(Ala1783Val)	NC_000001.10:g.216251655G>A	VUS	1 lab	70d187734f
17:29654650 NF1 T>G	17	29654650	29654650	T	G	NF1	c.5339T>G	NM_000267.3	NP_000258.1:p.(Leu1780Ter)	NC_000017.10:g.29654650T>G	(Likely) pathogenic	1 lab	70d22b8389
2:55889149 PNPT1 C>T	2	55889149	55889149	C	T	PNPT1	c.1189G>A	NM_033109.4	NP_149100.2:p.(Val397Ile)	NC_000002.11:g.55889149C>T	VUS	1 lab	70d22c5c41
9:140707883 EHMT1 C>T	9	140707883	140707883	C	T	EHMT1	c.3081C>T	NM_024757.4	NP_079033.4:p.(Asn1027=)	NC_000009.11:g.140707883C>T	(Likely) benign	1 lab	70d2c31ccd
14:105419473 AHNAK2 T>C	14	105419473	105419473	T	C	AHNAK2	c.2315A>G	NM_138420.3	NP_612429.2:p.(Asp772Gly)	NC_000014.8:g.105419473T>C	VUS	1 lab	70d2d31562
16:2550280 TBC1D24 G>T	16	2550280	2550280	G	T	TBC1D24	c.1314G>T	NM_001199107.1	NP_001186036.1:p.(Glu438Asp)	NC_000016.9:g.2550280G>T	VUS	1 lab	70d3206ed9
3:123634475 CCDC14 G>A	3	123634475	123634475	G	A	CCDC14	c.1413C>T	NM_001308317.2	NP_001295246.1:p.(Leu471=)	NC_000003.11:g.123634475G>A	(Likely) benign	1 lab	70d338cbff
5:149776398 TCOF1 C>T	5	149776398	149776398	C	T	TCOF1	c.4335C>T	NM_001135243.1	NP_001128715.1:p.(Ser1445=)	NC_000005.9:g.149776398C>T	(Likely) benign	1 lab	70d377e06e
2:26726692 OTOF G>A	2	26726692	26726692	G	A	OTOF	c.531C>T	NM_194248.2	NP_919224.1:p.(Ser177=)	NC_000002.11:g.26726692G>A	(Likely) benign	1 lab	70d44fddcc
15:42169106 SPTBN5 C>T	15	42169106	42169106	C	T	SPTBN5	c.3752G>A	NM_016642.4	NP_057726.4:p.(Arg1251Gln)	NC_000015.9:g.42169106C>T	(Likely) benign	1 lab	70d471d458
7:97482484 ASNS G>A	7	97482484	97482484	G	A	ASNS	c.1364C>T	NM_133436.3	NP_597680.2:p.(Ser455Phe)	NC_000007.13:g.97482484G>A	VUS	1 lab	70d5d2b001
X:17818871 RAI2 G>A	X	17818871	17818871	G	A	RAI2	c.1260C>T	NM_001172743.1	NP_001166214.1:p.(Gly420=)	NC_000023.10:g.17818871G>A	(Likely) benign	1 lab	70d64fb4c3
X:49227337 GAGE2C G>A	X	49227337	49227337	G	A	GAGE2C	c.44G>A	NM_001472.2	NP_001463.1:p.(Arg15His)	NC_000023.10:g.49227337G>A	(Likely) benign	1 lab	70d77ad1e5
5:36953804 NIPBL T>TG	5	36953804	36953808	T	TG	NIPBL	c.10dup	NM_133433.4	NP_597677.2:p.(Asp4GlyfsTer15)	NC_000005.9:g.36953808dup	(Likely) pathogenic	1 lab	f6ddc2506d
8:10467762 RP1L1 C>G	8	10467762	10467762	C	G	RP1L1	c.3846G>C	NM_178857.5	NP_849188.4:p.(Glu1282Asp)	NC_000008.10:g.10467762C>G	(Likely) benign	1 lab	70da0ce1c9
X:153594579 FLNA G>A	X	153594579	153594579	G	A	FLNA	c.1242C>T	NM_001110556.2	NP_001104026.1:p.(Gly414=)	NC_000023.10:g.153594579G>A	(Likely) benign	1 lab	70db82b3a3
15:31323322 TRPM1 G>A	15	31323322	31323322	G	A	TRPM1	c.3042C>T	NM_001252020.1	NP_001238949.1:p.(Val1014=)	NC_000015.9:g.31323322G>A	(Likely) benign	1 lab	70dccad9f6
7:33148950 RP9 G>C	7	33148950	33148950	G	C	RP9	c.35C>G	NM_203288.1	NP_976033.1:p.(Ala12Gly)	NC_000007.13:g.33148950G>C	(Likely) benign	1 lab	70dd034e3b
5:78251266 ARSB T>C	5	78251266	78251266	T	C	ARSB	c.750A>G	NM_000046.4	NP_000037.2:p.(Glu250=)	NC_000005.9:g.78251266T>C	(Likely) benign	1 lab	70dd83479f
22:17684644 ADA2 G>C	22	17684644	17684644	G	C	ADA2	c.562C>G	NM_001282225.2	NP_001269154.1:p.(Leu188Val)	NC_000022.10:g.17684644G>C	VUS	1 lab	70de14cc51
19:42753612 ERF G>A	19	42753612	42753612	G	A	ERF	c.652C>T	NM_006494.3	NP_006485.2:p.(Arg218Ter)	NC_000019.9:g.42753612G>A	(Likely) pathogenic	1 lab	70dede262b
7:48319077 ABCA13 G>A	7	48319077	48319077	G	A	ABCA13	c.8286G>A	NM_152701.4	NP_689914.3:p.(Met2762Ile)	NC_000007.13:g.48319077G>A	(Likely) benign	1 lab	70df81c136
16:81222520 PKD1L2 G>A	16	81222520	81222520	G	A	PKD1L2	c.1755C>T	NM_001076780.2	NP_001070248.1:p.(Asp585=)	NC_000016.9:g.81222520G>A	(Likely) benign	1 lab	70dfb5596a
17:27064935 NEK8 C>T	17	27064935	27064935	C	T	NEK8	c.988C>T	NM_178170.3	NP_835464.1:p.(Leu330Phe)	NC_000017.10:g.27064935C>T	VUS	1 lab	70e218830f
16:70942702 HYDIN GTCTATCTTT>G	16	70942702	70942714	GTCTATCTTT	G	HYDIN	c.8058_8066del	NM_001270974.2	NP_001257903.1:p.(Glu2686_Ile2688del)	NC_000016.9:g.70942706_70942714del	VUS	1 lab	70e247e33f
14:21861900 CHD8 A>G	14	21861900	21861900	A	G	CHD8	c.6054T>C	NM_001170629.1	NP_001164100.1:p.(Ser2018=)	NC_000014.8:g.21861900A>G	(Likely) benign	1 lab	70e27fd8d3
6:10557052 GCNT2 T>C	6	10557052	10557052	T	C	GCNT2	c.396T>C	NM_001491.2	NP_001482.1:p.(Thr132=)	NC_000006.11:g.10557052T>C	(Likely) benign	1 lab	70e3ab7043
5:90136657 ADGRV1 C>T	5	90136657	90136657	C	T	ADGRV1	c.16874C>T	NM_032119.4	NP_115495.3:p.(Ser5625Leu)	NC_000005.9:g.90136657C>T	VUS	1 lab	70e611e557
15:23890674 MAGEL2 G>C	15	23890674	23890674	G	C	MAGEL2	c.2216C>G	NM_019066.4	NP_061939.3:p.(Ser739Trp)	NC_000015.9:g.23890674G>C	VUS	1 lab	70e6a8b882
5:102530601 PPIP5K2 C>T	5	102530601	102530601	C	T	PPIP5K2	c.3599C>T	NM_001281471.2	NP_001268400.1:p.(Ser1200Phe)	NC_000005.9:g.102530601C>T	VUS	1 lab	70e70dafa3
7:794409 DNAAF5 G>A	7	794409	794409	G	A	DNAAF5	c.1208G>A	NM_017802.3	NP_060272.3:p.(Arg403Gln)	NC_000007.13:g.794409G>A	(Likely) benign	1 lab	70e70dafdc
7:94054941 COL1A2 G>A	7	94054941	94054941	G	A	COL1A2	c.2801G>A	NM_000089.3	NP_000080.2:p.(Gly934Asp)	NC_000007.13:g.94054941G>A	(Likely) pathogenic	1 lab	70e821d8c8
18:44683872 IER3IP1 C>T	18	44683872	44683872	C	T	IER3IP1	c.128G>A	NM_016097.4	NP_057181.1:p.(Gly43Glu)	NC_000018.9:g.44683872C>T	VUS	1 lab	70e9309322
16:68846065 CDH1 C>G	16	68846065	68846065	C	G	CDH1	c.1036C>G	NM_004360.3	NP_004351.1:p.(Gln346Glu)	NC_000016.9:g.68846065C>G	(Likely) benign	1 lab	70e9e58b34
7:100676977 MUC17 C>T	7	100676977	100676977	C	T	MUC17	c.2280C>T	NM_001040105.1	NP_001035194.1:p.(Thr760=)	NC_000007.13:g.100676977C>T	(Likely) benign	1 lab	70ea20e975
2:179442918 TTN A>G	2	179442918	179442918	A	G	TTN	c.68330-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442918A>G	(Likely) benign	1 lab	f6e0efeebb
11:95552046 CEP57 G>A	11	95552046	95552046	G	A	CEP57				NC_000011.9:g.95552046G>A	VUS	1 lab	70ec92f778
16:16230394 ABCC1 G>A	16	16230394	16230394	G	A	ABCC1	c.4185G>A	NM_004996.3	NP_004987.2:p.(Ser1395=)	NC_000016.9:g.16230394G>A	(Likely) benign	1 lab	70f1ef4165
16:2550271 TBC1D24 G>C	16	2550271	2550271	G	C	TBC1D24	c.1305G>C	NM_001199107.1	NP_001186036.1:p.(Leu435=)	NC_000016.9:g.2550271G>C	(Likely) benign	1 lab	70f1f892ef
6:64430742 EYS T>C	6	64430742	64430742	T	C	EYS	c.9248A>G	NM_001292009.1	NP_001278938.1:p.(Asn3083Ser)	NC_000006.11:g.64430742T>C	(Likely) benign	1 lab	70f2cae8e1
2:189869025 COL3A1 C>T	2	189869025	189869025	C	T	COL3A1	c.2866C>T	NM_000090.3	NP_000081.1:p.(Arg956Trp)	NC_000002.11:g.189869025C>T	VUS	1 lab	70f325b8de
X:107923924 COL4A5 C>T	X	107923924	107923924	C	T	COL4A5				NC_000023.10:g.107923924C>T	(Likely) pathogenic	1 lab	70f36237b9
8:13357414 DLC1 T>C	8	13357414	13357414	T	C	DLC1	c.167A>G	NM_182643.2	NP_872584.2:p.(Glu56Gly)	NC_000008.10:g.13357414T>C	(Likely) benign	1 lab	70f3d263b7
17:78082509 GAA AC>A	17	78082509	78082510	AC	A	GAA	c.1209del	NM_000152.5	NP_000143.2:p.(Asn403LysfsTer37)	NC_000017.10:g.78082510del	(Likely) pathogenic	1 lab	70f80852ec
10:49632569 MAPK8 C>T	10	49632569	49632569	C	T	MAPK8	c.629C>T	NM_139046.3	NP_620634.1:p.(Ser210Leu)	NC_000010.10:g.49632569C>T	VUS	1 lab	70f88f03d7
X:23752471 ACOT9 T>C	X	23752471	23752471	T	C	ACOT9	c.132A>G	NM_001037171.1	NP_001032248.1:p.(Ile44Met)	NC_000023.10:g.23752471T>C	(Likely) benign	1 lab	70f93cc9aa
18:43450595 EPG5 C>T	18	43450595	43450595	C	T	EPG5	c.6162G>A	NM_020964.3	NP_066015.2:p.(Thr2054=)	NC_000018.9:g.43450595C>T	(Likely) benign	1 lab	70fa2240f3
1:119575877 WARS2 A>G	1	119575877	119575877	A	G	WARS2	c.740T>C	NM_015836.3	NP_056651.1:p.(Ile247Thr)	NC_000001.10:g.119575877A>G	VUS	1 lab	70fa3f4d8a
1:247695350 OR2C3 G>C	1	247695350	247695350	G	C	OR2C3	c.464C>G	NM_198074.4	NP_932340.3:p.(Thr155Ser)	NC_000001.10:g.247695350G>C	(Likely) benign	1 lab	70fa7c207a
1:21809836 NBPF3 G>A	1	21809836	21809836	G	A	NBPF3	c.1859G>A	NM_032264.4	NP_115640.1:p.(Arg620Lys)	NC_000001.10:g.21809836G>A	(Likely) benign	1 lab	70faf71e38
20:35414944 MTCL2 G>A	20	35414944	35414944	G	A	MTCL2	c.4930C>T	NM_080627.4	NP_542194.2:p.(His1644Tyr)	NC_000020.10:g.35414944G>A	VUS	1 lab	7101aeb03b
7:150704277 NOS3 C>T	7	150704277	150704277	C	T	NOS3	c.2025C>T	NM_000603.5	NP_000594.2:p.(Gly675=)	NC_000007.13:g.150704277C>T	(Likely) benign	1 lab	f6e8048b35
20:45353838 SLC2A10 C>T	20	45353838	45353838	C	T	SLC2A10	c.163C>T	NM_030777.3	NP_110404.1:p.(Leu55Phe)	NC_000020.10:g.45353838C>T	VUS	1 lab	7101f7b59d
12:26493117 ITPR2 C>T	12	26493117	26493117	C	T	ITPR2	c.8002G>A	NM_002223.3	NP_002214.2:p.(Ala2668Thr)	NC_000012.11:g.26493117C>T	(Likely) benign	1 lab	71032cc697
X:102979905 GLRA4 G>A	X	102979905	102979905	G	A	GLRA4	c.123C>T	NM_001172285.1	NP_001165756.1:p.(Pro41=)	NC_000023.10:g.102979905G>A	(Likely) benign	1 lab	710395ffc6
5:73205676 ARHGEF28 GC>G	5	73205676	73205678	GC	G	ARHGEF28	c.4603del	NM_001177693.2	NP_001171164.1:p.(Arg1535GlyfsTer16)	NC_000005.9:g.73205678del	VUS	1 lab	71051d9c67
10:59986857 IPMK C>T	10	59986857	59986857	C	T	IPMK	c.320G>A	NM_152230.5	NP_689416.1:p.(Arg107Gln)	NC_000010.10:g.59986857C>T	(Likely) benign	1 lab	71066e81f0
12:21689946 GYS2 A>G	12	21689946	21689946	A	G	GYS2	c.2054T>C	NM_021957.4	NP_068776.2:p.(Phe685Ser)	NC_000012.11:g.21689946A>G	(Likely) benign	1 lab	7107511bd9
10:88439128 LDB3 C>T	10	88439128	88439128	C	T	LDB3	c.98C>T	NM_007078.2	NP_009009.1:p.(Thr33Ile)	NC_000010.10:g.88439128C>T	VUS	1 lab	7107ac1450
X:101858212 ARMCX5 G>A	X	101858212	101858212	G	A	ARMCX5	c.1143G>A	NM_001168479.1	NP_001161951.1:p.(Glu381=)	NC_000023.10:g.101858212G>A	(Likely) benign	1 lab	7109a9a917
12:57430138 MYO1A G>A	12	57430138	57430138	G	A	MYO1A	c.2302C>T	NM_001256041.1	NP_001242970.1:p.(Arg768Trp)	NC_000012.11:g.57430138G>A	(Likely) benign	1 lab	7109c6eb00
15:57565319 TCF12 C>T	15	57565319	57565319	C	T	TCF12	c.1837C>T	NM_207037.1	NP_996920.1:p.(Arg613Cys)	NC_000015.9:g.57565319C>T	VUS	1 lab	710b10bb93
X:77372917 PGK1 C>A	X	77372917	77372917	C	A	PGK1	c.521+5C>A	NM_000291.3	NP_000282.1:p.?	NC_000023.10:g.77372917C>A	(Likely) benign	1 lab	710b56c6ca
18:44122780 LOXHD1 T>G	18	44122780	44122780	T	G	LOXHD1	c.3658A>C	NM_144612.6	NP_653213.6:p.(Lys1220Gln)	NC_000018.9:g.44122780T>G	VUS	1 lab	710ca4f925
9:133948054 LAMC3 C>T	9	133948054	133948054	C	T	LAMC3	c.3249C>T	NM_006059.3	NP_006050.3:p.(Leu1083=)	NC_000009.11:g.133948054C>T	(Likely) benign	1 lab	710d507f28
X:128701302 OCRL TTATAAG>T	X	128701302	128701311	TTATAAG	T	OCRL	c.1432_1437del	NM_000276.4	NP_000267.2:p.(Lys478_Tyr479del)	NC_000023.10:g.128701306_128701311del	(Likely) pathogenic	1 lab	710d9dc4b1
21:46308800 ITGB2 C>T	21	46308800	46308800	C	T	ITGB2	c.1888G>A	NM_000211.3	NP_000202.2:p.(Glu630Lys)	NC_000021.8:g.46308800C>T	(Likely) benign	1 lab	710e5fbbeb
11:70858342 SHANK2 C>T	11	70858342	70858342	C	T	SHANK2	c.31G>A	NM_012309.5	NP_036441.2:p.(Glu11Lys)	NC_000011.9:g.70858342C>T	VUS	1 lab	f6ec168fbd
5:155756592 SGCD G>C	5	155756592	155756592	G	C	SGCD	c.3+3G>C	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.155756592G>C	VUS	1 lab	7112ce77ca
9:131398680 DYNC2I2 C>T	9	131398680	131398680	C	T	DYNC2I2	c.583G>A	NM_052844.3	NP_443076.2:p.(Val195Met)	NC_000009.11:g.131398680C>T	VUS	1 lab	7113e928df
3:30729974 TGFBR2 GA>G	3	30729974	30729977	GA	G	TGFBR2	c.1498del	NM_003242.6	NP_003233.4:p.(Ile500PhefsTer18)	NC_000003.11:g.30729977del	(Likely) pathogenic	1 lab	71146d36f8
2:163302679 KCNH7 A>T	2	163302679	163302679	A	T	KCNH7	c.1403T>A	NM_033272.3	NP_150375.2:p.(Ile468Lys)	NC_000002.11:g.163302679A>T	VUS	1 lab	7114d8a48b
17:41276020 BRCA1 T>G	17	41276020	41276020	T	G	BRCA1	c.80+14A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41276020T>G	(Likely) benign	1 lab	71153b9ec6
3:53694223 CACNA1D C>T	3	53694223	53694223	C	T	CACNA1D	c.687C>T	NM_000720.3	NP_000711.1:p.(Gly229=)	NC_000003.11:g.53694223C>T	VUS	1 lab	71159f93b5
3:52324379 GLYCTK C>T	3	52324379	52324379	C	T	GLYCTK	c.21C>T	NM_145262.3	NP_660305.2:p.(Val7=)	NC_000003.11:g.52324379C>T	(Likely) benign	1 lab	7115d1516a
17:78165230 CARD14 C>T	17	78165230	78165230	C	T	CARD14	c.1198C>T	NM_024110.4	NP_077015.2:p.(Arg400Cys)	NC_000017.10:g.78165230C>T	VUS	1 lab	71167c945a
X:8522002 ANOS1 T>G	X	8522002	8522002	T	G	ANOS1	c.1345A>C	NM_000216.3	NP_000207.2:p.(Lys449Gln)	NC_000023.10:g.8522002T>G	VUS	1 lab	7118445111
18:67872400 RTTN C>T	18	67872400	67872400	C	T	RTTN	c.183G>A	NM_173630.3	NP_775901.3:p.(Lys61=)	NC_000018.9:g.67872400C>T	(Likely) benign	1 lab	71193c3ce6
17:72916296 USH1G C>G	17	72916296	72916296	C	G	USH1G	c.635G>C	NM_173477.4	NP_775748.2:p.(Gly212Ala)	NC_000017.10:g.72916296C>G	VUS	1 lab	711abd8647
1:236907982 ACTN2 C>T	1	236907982	236907982	C	T	ACTN2	c.1312C>T	NM_001103.3	NP_001094.1:p.(Arg438Trp)	NC_000001.10:g.236907982C>T	VUS	1 lab	711adbb0c5
9:97369132 FBP1 C>T	9	97369132	97369132	C	T	FBP1	c.670G>A	NM_000507.3	NP_000498.2:p.(Val224Ile)	NC_000009.11:g.97369132C>T	(Likely) benign	1 lab	711c10f2c6
9:123797114 C5 G>T	9	123797114	123797114	G	T	C5	c.569C>A	NM_001317163.1	NP_001304092.1:p.(Ser190Tyr)	NC_000009.11:g.123797114G>T	VUS	1 lab	711c88c62e
10:72195529 NODAL T>C	10	72195529	72195529	T	C	NODAL	c.404A>G	NM_018055.4	NP_060525.3:p.(Asp135Gly)	NC_000010.10:g.72195529T>C	(Likely) benign	1 lab	711d686a23
X:152991018 ABCD1 C>T	X	152991018	152991018	C	T	ABCD1	c.297C>T	NM_000033.3	NP_000024.2:p.(Ala99=)	NC_000023.10:g.152991018C>T	(Likely) benign	1 lab	711e9ac23e
5:60628657 ZSWIM6 C>A	5	60628657	60628657	C	A	ZSWIM6	c.558C>A	NM_020928.1	NP_065979.1:p.(Ala186=)	NC_000005.9:g.60628657C>A	(Likely) benign	1 lab	711fbd6c9d
X:129274528 AIFM1 T>C	X	129274528	129274528	T	C	AIFM1	c.761A>G	NM_001130847.3	NP_001124319.1:p.(Glu254Gly)	NC_000023.10:g.129274528T>C	VUS	1 lab	712040112c
16:2134495 TSC2 C>T	16	2134495	2134495	C	T	TSC2	c.4203C>T	NM_001114382.2	NP_001107854.1:p.(Asp1401=)	NC_000016.9:g.2134495C>T	(Likely) benign	1 lab	7120b47a21
1:21890595 ALPL C>T	1	21890595	21890595	C	T	ALPL	c.534C>T	NM_000478.5	NP_000469.3:p.(Tyr178=)	NC_000001.10:g.21890595C>T	(Likely) benign	1 lab	712239f5bd
8:39873001 IDO2 C>A	8	39873001	39873001	C	A	IDO2	c.1143C>A	NM_194294.2	NP_919270.2:p.(Asn381Lys)	NC_000008.10:g.39873001C>A	(Likely) benign	1 lab	7122bb404a
15:35086881 ACTC1 C>T	15	35086881	35086881	C	T	ACTC1	c.129G>A	NM_005159.4	NP_005150.1:p.(Gln43=)	NC_000015.9:g.35086881C>T	VUS	1 lab	71244a3e8e
11:65639463 EFEMP2 G>A	11	65639463	65639463	G	A	EFEMP2	c.138C>T	NM_016938.4	NP_058634.4:p.(Asp46=)	NC_000011.9:g.65639463G>A	(Likely) benign	1 lab	71244eb47e
5:131539490 P4HA2 C>T	5	131539490	131539490	C	T	P4HA2	c.1202G>A	NM_004199.2	NP_004190.1:p.(Arg401Gln)	NC_000005.9:g.131539490C>T	VUS	1 lab	7124b19321
19:38655389 SIPA1L3 G>T	19	38655389	38655389	G	T	SIPA1L3	c.4051G>T	NM_015073.2	NP_055888.1:p.(Ala1351Ser)	NC_000019.9:g.38655389G>T	(Likely) benign	1 lab	7125b35070
2:197135934 HECW2 G>A	2	197135934	197135934	G	A	HECW2	c.3318C>T	NM_020760.3	NP_065811.1:p.(Thr1106=)	NC_000002.11:g.197135934G>A	(Likely) benign	1 lab	712669e9a6
11:68192612 LRP5 C>G	11	68192612	68192612	C	G	LRP5	c.3279C>G	NM_002335.3	NP_002326.2:p.(Ile1093Met)	NC_000011.9:g.68192612C>G	VUS	1 lab	712831f293
2:179397463 TTN C>G	2	179397463	179397463	C	G	TTN	c.96175G>C	NM_133378.4	NP_596869.4:p.(Asp32059His)	NC_000002.11:g.179397463C>G	VUS	1 lab	f6f414ed40
9:2643643 VLDLR G>A	9	2643643	2643643	G	A	VLDLR	c.836G>A	NM_003383.4	NP_003374.3:p.(Arg279Gln)	NC_000009.11:g.2643643G>A	VUS	1 lab	7129366259
14:53558601 DDHD1 T>C	14	53558601	53558601	T	C	DDHD1	c.1191A>G	NM_001160148.1	NP_001153620.1:p.(Thr397=)	NC_000014.8:g.53558601T>C	(Likely) benign	1 lab	7129ba788c
16:69687139 NFAT5 A>G	16	69687139	69687139	A	G	NFAT5	c.531A>G	NM_138714.3	NP_619728.2:p.(Gly177=)	NC_000016.9:g.69687139A>G	(Likely) benign	1 lab	712a2c9b97
16:3823805 CREBBP C>T	16	3823805	3823805	C	T	CREBBP	c.2410G>A	NM_004380.2	NP_004371.2:p.(Gly804Arg)	NC_000016.9:g.3823805C>T	VUS	1 lab	712aaa8985
11:66466946 SPTBN2 C>T	11	66466946	66466946	C	T	SPTBN2	c.3707G>A	NM_006946.3	NP_008877.1:p.(Arg1236His)	NC_000011.9:g.66466946C>T	VUS	1 lab	712af37afc
17:40940408 WNK4 C>T	17	40940408	40940408	C	T	WNK4	c.2023C>T	NM_032387.4	NP_115763.2:p.(Arg675Trp)	NC_000017.10:g.40940408C>T	VUS	1 lab	712c3f2de2
8:42294661 SLC20A2 C>T	8	42294661	42294661	C	T	SLC20A2	c.1369G>A	NM_001257180.2	NP_001244109.1:p.(Ala457Thr)	NC_000008.10:g.42294661C>T	(Likely) benign	1 lab	712c467693
X:152830495 ATP2B3 T>C	X	152830495	152830495	T	C	ATP2B3	c.3276T>C	NM_021949.3	NP_068768.2:p.(His1092=)	NC_000023.10:g.152830495T>C	(Likely) benign	1 lab	712ca8c526
2:179611029 TTN G>A	2	179611029	179611029	G	A	TTN	c.16098C>T	NM_133379.4	NP_596870.2:p.(Asp5366=)	NC_000002.11:g.179611029G>A	(Likely) benign	1 lab	712d8e95c8
1:13111518 MISSING C>T	1	13111518	13111518	C	T	MISSING				NC_000001.10:g.13111518C>T	(Likely) benign	1 lab	712e105b37
1:981995 AGRN A>G	1	981995	981995	A	G	AGRN	c.2815A>G	NM_001364727.1	NP_001351656.1:p.(Thr939Ala)	NC_000001.10:g.981995A>G	(Likely) benign	1 lab	712e46f7df
19:1244410 ATP5F1D G>A	19	1244410	1244410	G	A	ATP5F1D	c.481G>A	NM_001687.5	NP_001678.1:p.(Glu161Lys)	NC_000019.9:g.1244410G>A	VUS	1 lab	712e471e4f
X:153585838 FLNA C>T	X	153585838	153585838	C	T	FLNA	c.4909G>A	NM_001110556.2	NP_001104026.1:p.(Val1637Met)	NC_000023.10:g.153585838C>T	VUS	1 lab	712ef6c3a5
1:214557048 PTPN14 GCCTCCT>G	1	214557048	214557067	GCCTCCT	G	PTPN14	c.2144_2149del	NM_005401.5	NP_005392.2:p.(Glu715_Glu716del)	NC_000001.10:g.214557062_214557067del	(Likely) benign	1 lab	712fa8b348
X:49126615 PPP1R3F G>C	X	49126615	49126615	G	C	PPP1R3F	c.283G>C	NM_033215.4	NP_149992.3:p.(Glu95Gln)	NC_000023.10:g.49126615G>C	(Likely) benign	1 lab	7130721392
15:43820165 MAP1A C>T	15	43820165	43820165	C	T	MAP1A	c.6494C>T	NM_002373.6	NP_002364.5:p.(Ala2165Val)	NC_000015.9:g.43820165C>T	VUS	1 lab	7130b844bc
12:7362285 PEX5 T>C	12	7362285	7362285	T	C	PEX5	c.1567T>C	NM_001131025.2	NP_001124497.1:p.(Leu523=)	NC_000012.11:g.7362285T>C	(Likely) benign	1 lab	f6f61a0d07
5:140263375 PCDHA13 G>A	5	140263375	140263375	G	A	PCDHA13	c.1522G>A	NM_018904.3	NP_061727.1:p.(Val508Met)	NC_000005.9:g.140263375G>A	VUS	1 lab	71347da3c1
1:12331098 VPS13D C>A	1	12331098	12331098	C	A	VPS13D	c.2020C>A	NM_015378.4	NP_056193.2:p.(Arg674=)	NC_000001.10:g.12331098C>A	(Likely) benign	1 lab	7134940dc7
14:93760477 BTBD7 G>A	14	93760477	93760477	G	A	BTBD7	c.889C>T	NM_001002860.4	NP_001002860.2:p.(Arg297Ter)	NC_000014.8:g.93760477G>A	VUS	1 lab	7134cc7369
4:187584530 FAT1 G>A	4	187584530	187584530	G	A	FAT1	c.3503C>T	NM_005245.3	NP_005236.2:p.(Ser1168Leu)	NC_000004.11:g.187584530G>A	VUS	1 lab	713890bcd5
1:109815310 CELSR2 T>A	1	109815310	109815310	T	A	CELSR2	c.8103T>A	NM_001408.2	NP_001399.1:p.(Asp2701Glu)	NC_000001.10:g.109815310T>A	VUS	1 lab	71394917af
X:108652341 GUCY2F C>G	X	108652341	108652341	C	G	GUCY2F	c.1848G>C	NM_001522.2	NP_001513.2:p.(Ser616=)	NC_000023.10:g.108652341C>G	(Likely) benign	1 lab	7139644e86
17:73519416 TSEN54 G>A	17	73519416	73519416	G	A	TSEN54	c.1313G>A	NM_207346.2	NP_997229.2:p.(Arg438Gln)	NC_000017.10:g.73519416G>A	VUS	1 lab	7139aee483
7:26412123 SNX10 G>A	7	26412123	26412123	G	A	SNX10	c.615G>A	NM_001362753.1	NP_001349682.1:p.(Gly205=)	NC_000007.13:g.26412123G>A	(Likely) benign	1 lab	713a604889
10:124799872 ACADSB AAAT>A	10	124799872	124799886	AAAT	A	ACADSB	c.304-98_304-96del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124799884_124799886del	(Likely) benign	1 lab	713b9abc5f
1:57537261 DAB1 C>A	1	57537261	57537261	C	A	DAB1	c.492G>T	NM_021080.4	NP_066566.3:p.(Leu164Phe)	NC_000001.10:g.57537261C>A	VUS	1 lab	713bf749e1
16:88791467 PIEZO1 G>T	16	88791467	88791467	G	T	PIEZO1	c.4184C>A	NM_001142864.4	NP_001136336.2:p.(Ser1395Tyr)	NC_000016.9:g.88791467G>T	VUS	1 lab	f6f731b59c
4:15516389 CC2D2A C>T	4	15516389	15516389	C	T	CC2D2A	c.777C>T	NM_001080522.2	NP_001073991.2:p.(His259=)	NC_000004.11:g.15516389C>T	(Likely) benign	1 lab	713fc50534
12:64868099 TBK1 A>T	12	64868099	64868099	A	T	TBK1	c.630A>T	NM_013254.4	NP_037386.1:p.(Thr210=)	NC_000012.11:g.64868099A>T	VUS	1 lab	7140ed8fe3
X:117764409 DOCK11 G>A	X	117764409	117764409	G	A	DOCK11	c.3842G>A	NM_144658.3	NP_653259.3:p.(Ser1281Asn)	NC_000023.10:g.117764409G>A	(Likely) benign	1 lab	7141a46d16
17:37822066 TCAP C>A	17	37822066	37822066	C	A	TCAP	c.208C>A	NM_003673.3	NP_003664.1:p.(Arg70=)	NC_000017.10:g.37822066C>A	(Likely) benign	1 lab	7141f21dda
2:15448400 NBAS G>T	2	15448400	15448400	G	T	NBAS	c.4737C>A	NM_015909.3	NP_056993.2:p.(Ser1579Arg)	NC_000002.11:g.15448400G>T	VUS	1 lab	7145352c2c
5:70858179 BDP1 C>T	5	70858179	70858179	C	T	BDP1	c.7575C>T	NM_018429.2	NP_060899.2:p.(Val2525=)	NC_000005.9:g.70858179C>T	(Likely) benign	1 lab	7145f76db7
2:191301754 MFSD6 G>A	2	191301754	191301754	G	A	MFSD6	c.999G>A	NM_017694.4	NP_060164.3:p.(Leu333=)	NC_000002.11:g.191301754G>A	(Likely) benign	1 lab	7146f26c1c
X:153296812 MECP2 T>C	X	153296812	153296812	T	C	MECP2	c.467A>G	NM_004992.3	NP_004983.1:p.(Asp156Gly)	NC_000023.10:g.153296812T>C	(Likely) pathogenic	1 lab	71483298d6
15:51772865 DMXL2 C>T	15	51772865	51772865	C	T	DMXL2	c.6438G>A	NM_001174116.1	NP_001167587.1:p.(Ser2146=)	NC_000015.9:g.51772865C>T	(Likely) benign	1 lab	71487151f1
1:197112706 ASPM G>A	1	197112706	197112706	G	A	ASPM	c.676C>T	NM_018136.4	NP_060606.3:p.(Pro226Ser)	NC_000001.10:g.197112706G>A	VUS	1 lab	71496319ab
X:153707136 LAGE3 G>T	X	153707136	153707136	G	T	LAGE3	c.119C>A	NM_006014.4	NP_006005.2:p.(Ala40Glu)	NC_000023.10:g.153707136G>T	(Likely) benign	1 lab	714ab57391
19:58004950 ZNF419 C>A	19	58004950	58004950	C	A	ZNF419	c.1028C>A	NM_001098491.1	NP_001091961.1:p.(Pro343His)	NC_000019.9:g.58004950C>A	VUS	1 lab	714ad0e8ae
2:219256112 SLC11A1 G>T	2	219256112	219256112	G	T	SLC11A1	c.1058G>T	NM_000578.3	NP_000569.3:p.(Gly353Val)	NC_000002.11:g.219256112G>T	VUS	1 lab	714ae47cc5
11:6630666 ILK G>C	11	6630666	6630666	G	C	ILK	c.728+27G>C	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6630666G>C	(Likely) benign	1 lab	714ae92b9a
X:17743849 NHS C>T	X	17743849	17743849	C	T	NHS	c.1623C>T	NM_001291867.1	NP_001278796.1:p.(Thr541=)	NC_000023.10:g.17743849C>T	(Likely) benign	1 lab	714d6dc250
12:6439831 TNFRSF1A A>G	12	6439831	6439831	A	G	TNFRSF1A	c.672T>C	NM_001065.3	NP_001056.1:p.(Leu224=)	NC_000012.11:g.6439831A>G	(Likely) benign	1 lab	715038e6d1
X:26157952 MAGEB18 G>A	X	26157952	26157952	G	A	MAGEB18	c.850G>A	NM_173699.3	NP_775970.1:p.(Val284Ile)	NC_000023.10:g.26157952G>A	(Likely) benign	1 lab	71512ee395
20:61050423 GATA5 C>A	20	61050423	61050423	C	A	GATA5	c.155G>T	NM_080473.4	NP_536721.1:p.(Ser52Ile)	NC_000020.10:g.61050423C>A	(Likely) benign	1 lab	7151738202
X:53243882 KDM5C A>T	X	53243882	53243882	A	T	KDM5C	c.1111T>A	NM_004187.3	NP_004178.2:p.(Cys371Ser)	NC_000023.10:g.53243882A>T	VUS	1 lab	7151e64b56
15:77328261 PSTPIP1 C>T	15	77328261	77328261	C	T	PSTPIP1	c.1077C>T	NM_001321136.1	NP_001308065.1:p.(Tyr359=)	NC_000015.9:g.77328261C>T	(Likely) benign	1 lab	71529a9990
X:101096287 NXF5 G>A	X	101096287	101096287	G	A	NXF5	c.337C>T	NM_032946.2	NP_116564.2:p.(Arg113Trp)	NC_000023.10:g.101096287G>A	VUS	1 lab	7152b08f7f
9:94487211 ROR2 C>T	9	94487211	94487211	C	T	ROR2	c.1565G>A	NM_004560.3	NP_004551.2:p.(Arg522Gln)	NC_000009.11:g.94487211C>T	VUS	1 lab	7154a7c0c1
11:47364296 MYBPC3 C>T	11	47364296	47364296	C	T	MYBPC3	c.1458-1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364296C>T	(Likely) pathogenic	1 lab	7154b2d461
X:76939461 ATRX G>C	X	76939461	76939461	G	C	ATRX	c.1287C>G	NM_000489.5	NP_000480.3:p.(Thr429=)	NC_000023.10:g.76939461G>C	(Likely) benign	1 lab	7154e74339
1:201058596 CACNA1S AG>A	1	201058596	201058598	AG	A	CACNA1S	c.695-6del	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201058598del	(Likely) benign	1 lab	7157d6b387
19:12776626 MAN2B1 A>G	19	12776626	12776626	A	G	MAN2B1	c.160-7T>C	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12776626A>G	(Likely) benign	1 lab	715acb0651
19:17057924 MISSING G>A	19	17057924	17057924	G	A	MISSING				NC_000019.9:g.17057924G>A	(Likely) benign	1 lab	715ae50fd8
15:62261522 VPS13C T>C	15	62261522	62261522	T	C	VPS13C	c.2887A>G	NM_001018088.2	NP_001018098.1:p.(Ser963Gly)	NC_000015.9:g.62261522T>C	VUS	1 lab	715cc8cdaa
11:118963982 HMBS G>A	11	118963982	118963982	G	A	HMBS	c.1075G>A	NM_000190.4	NP_000181.2:p.(Asp359Asn)	NC_000011.9:g.118963982G>A	(Likely) benign	1 lab	715d506490
17:29562788 NF1 AAGG>A	17	29562788	29562791	AAGG	A	NF1	c.3869_3870+1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29562789_29562791del	(Likely) pathogenic	1 lab	715da77e64
13:23907194 SACS G>T	13	23907194	23907194	G	T	SACS	c.10821C>A	NM_014363.5	NP_055178.3:p.(Ile3607=)	NC_000013.10:g.23907194G>T	(Likely) benign	1 lab	715e0fe4fc
19:44223001 IRGC G>A	19	44223001	44223001	G	A	IRGC	c.291G>A	NM_019612.4	NP_062558.1:p.(Ser97=)	NC_000019.9:g.44223001G>A	(Likely) benign	1 lab	715e750a37
16:55530913 MMP2 C>A	16	55530913	55530913	C	A	MMP2	c.1548C>A	NM_004530.5	NP_004521.1:p.(Leu516=)	NC_000016.9:g.55530913C>A	(Likely) benign	1 lab	715faee1fb
X:129271123 AIFM1 G>A	X	129271123	129271123	G	A	AIFM1	c.1005C>T	NM_004208.3	NP_004199.1:p.(Pro335=)	NC_000023.10:g.129271123G>A	(Likely) benign	1 lab	71602984d2
21:47766871 PCNT G>A	21	47766871	47766871	G	A	PCNT	c.935G>A	NM_006031.5	NP_006022.3:p.(Arg312Gln)	NC_000021.8:g.47766871G>A	VUS	1 lab	7160f9bae9
19:45923617 ERCC1 A>G	19	45923617	45923617	A	G	ERCC1	c.390T>C	NM_001983.3	NP_001974.1:p.(Tyr130=)	NC_000019.9:g.45923617A>G	(Likely) benign	1 lab	71621fcfc6
5:94848287 SKIC3 G>A	5	94848287	94848287	G	A	SKIC3	c.2814C>T	NM_014639.3	NP_055454.1:p.(Cys938=)	NC_000005.9:g.94848287G>A	(Likely) benign	1 lab	7162a48ed8
2:130914928 SMPD4 G>A	2	130914928	130914928	G	A	SMPD4	c.1110C>T	NM_017951.4	NP_060421.2:p.(Arg370=)	NC_000002.11:g.130914928G>A	VUS	1 lab	71634c6eec
12:102869600 IGF1 G>T	12	102869600	102869600	G	T	IGF1	c.64-23C>A	NM_000618.4	NP_000609.1:p.?	NC_000012.11:g.102869600G>T	(Likely) benign	1 lab	71652573fc
9:135791383 TSC1 T>C	9	135791383	135791383	T	C	TSC1	c.738-3539A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135791383T>C	VUS	1 lab	7165e34fec
17:29483068 NF1 T>C	17	29483068	29483068	T	C	NF1	c.128T>C	NM_000267.3	NP_000258.1:p.(Leu43Pro)	NC_000017.10:g.29483068T>C	(Likely) pathogenic	1 lab	7166246813
7:128488705 FLNC C>A	7	128488705	128488705	C	A	FLNC	c.4671C>A	NM_001458.5	NP_001449.3:p.(Ser1557Arg)	NC_000007.13:g.128488705C>A	VUS	1 lab	f701a8cca4
20:49225025 RIPOR3 G>A	20	49225025	49225025	G	A	RIPOR3	c.857C>T	NM_001290268.1	NP_001277197.1:p.(Thr286Met)	NC_000020.10:g.49225025G>A	VUS	1 lab	716836ca31
1:211280723 KCNH1 TTA>T	1	211280723	211280725	TTA	T	KCNH1	c.80-6_80-5del	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.211280724_211280725del	(Likely) benign	1 lab	716b587969
19:37904903 ZNF569 A>G	19	37904903	37904903	A	G	ZNF569	c.180T>C	NM_001330482.1	NP_001317411.1:p.(Cys60=)	NC_000019.9:g.37904903A>G	(Likely) benign	1 lab	716c067ab8
1:216424252 USH2A G>A	1	216424252	216424252	G	A	USH2A	c.2160C>T	NM_206933.2	NP_996816.2:p.(Asn720=)	NC_000001.10:g.216424252G>A	(Likely) benign	1 lab	716c4dc249
X:18924617 PHKA2 G>C	X	18924617	18924617	G	C	PHKA2	c.2802C>G	NM_000292.2	NP_000283.1:p.(Cys934Trp)	NC_000023.10:g.18924617G>C	(Likely) benign	1 lab	716c59a31b
11:45957292 PHF21A TAAAAA>T	11	45957292	45957315	TAAAAA	T	PHF21A	c.1544-7_1544-3del	NM_016621.5	NP_057705.3:p.?	NC_000011.9:g.45957311_45957315del	(Likely) benign	1 lab	f7030d6471
3:164739037 SI C>T	3	164739037	164739037	C	T	SI	c.3234G>A	NM_001041.3	NP_001032.2:p.(Arg1078=)	NC_000003.11:g.164739037C>T	(Likely) benign	1 lab	716dae43b7
2:179596956 TTN A>G	2	179596956	179596956	A	G	TTN	c.16740T>C	NM_001267550.1	NP_001254479.1:p.(Asn5580=)	NC_000002.11:g.179596956A>G	(Likely) benign	1 lab	716dfe86b5
2:26712172 OTOF C>T	2	26712172	26712172	C	T	OTOF	c.961-9G>A	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26712172C>T	(Likely) benign	1 lab	7171755e94
1:22178101 HSPG2 C>T	1	22178101	22178101	C	T	HSPG2	c.7099G>A	NM_001291860.1	NP_001278789.1:p.(Gly2367Arg)	NC_000001.10:g.22178101C>T	(Likely) benign	1 lab	7171959f0a
5:127623023 FBN2 C>T	5	127623023	127623023	C	T	FBN2	c.6857G>A	NM_001999.3	NP_001990.2:p.(Arg2286Lys)	NC_000005.9:g.127623023C>T	(Likely) pathogenic	1 lab	71753ce6be
12:2778135 CACNA1C G>A	12	2778135	2778135	G	A	CACNA1C	c.4804G>A	NM_199460.3	NP_955630.3:p.(Gly1602Arg)	NC_000012.11:g.2778135G>A	VUS	1 lab	7177fddfbd
2:234669737 UGT1A1 CATGCCCAAT>C	2	234669737	234669749	CATGCCCAAT	C	UGT1A1	c.808_816del	NM_000463.3	NP_000454.1:p.(Pro270_Met272del)	NC_000002.11:g.234669741_234669749del	(Likely) pathogenic	1 lab	717a2d796b
21:47662759 MCM3AP C>T	21	47662759	47662759	C	T	MCM3AP	c.5383G>A	NM_003906.4	NP_003897.2:p.(Ala1795Thr)	NC_000021.8:g.47662759C>T	VUS	1 lab	717af1e282
6:76640695 IMPG1 G>A	6	76640695	76640695	G	A	IMPG1	c.2218C>T	NM_001563.3	NP_001554.2:p.(Leu740Phe)	NC_000006.11:g.76640695G>A	(Likely) benign	1 lab	71832dce7e
8:133634848 DNAAF11 C>T	8	133634848	133634848	C	T	DNAAF11	c.914+9G>A	NM_012472.5	NP_036604.2:p.?	NC_000008.10:g.133634848C>T	VUS	1 lab	7183b032c0
1:39847729 MACF1 C>T	1	39847729	39847729	C	T	MACF1	c.7567C>T	NM_012090.5	NP_036222.3:p.(Arg2523Trp)	NC_000001.10:g.39847729C>T	VUS	1 lab	7183e8165c
2:26705384 OTOF G>T	2	26705384	26705384	G	T	OTOF	c.1469C>A	NM_194248.2	NP_919224.1:p.(Pro490Gln)	NC_000002.11:g.26705384G>T	VUS	1 lab	7186808491
22:38121554 TRIOBP C>T	22	38121554	38121554	C	T	TRIOBP	c.2991C>T	NM_001039141.2	NP_001034230.1:p.(Pro997=)	NC_000022.10:g.38121554C>T	(Likely) benign	1 lab	718873eb20
9:99060704 HSD17B3 C>T	9	99060704	99060704	C	T	HSD17B3	c.195G>A	NM_000197.2	NP_000188.1:p.(Ser65=)	NC_000009.11:g.99060704C>T	(Likely) benign	1 lab	718a16ee3e
17:71189371 COG1 C>T	17	71189371	71189371	C	T	COG1	c.163C>T	NM_018714.2	NP_061184.1:p.(Arg55Trp)	NC_000017.10:g.71189371C>T	VUS	1 lab	718c7bc723
5:125929086 ALDH7A1 G>T	5	125929086	125929086	G	T	ALDH7A1	c.203C>A	NM_001182.4	NP_001173.2:p.(Thr68Asn)	NC_000005.9:g.125929086G>T	VUS	1 lab	718d05744a
2:71795310 DYSF C>T	2	71795310	71795310	C	T	DYSF	c.2703C>T	NM_001130981.1	NP_001124453.1:p.(Asn901=)	NC_000002.11:g.71795310C>T	(Likely) benign	1 lab	718e32a0f3
12:49579361 TUBA1A G>A	12	49579361	49579361	G	A	TUBA1A	c.788C>T	NM_001270399.1	NP_001257328.1:p.(Pro263Leu)	NC_000012.11:g.49579361G>A	VUS	1 lab	718ebc5215
8:48752626 PRKDC A>G	8	48752626	48752626	A	G	PRKDC	c.7405T>C	NM_006904.6	NP_008835.5:p.(Cys2469Arg)	NC_000008.10:g.48752626A>G	VUS	1 lab	718ebcd0fe
22:50657720 TUBGCP6 G>C	22	50657720	50657720	G	C	TUBGCP6	c.4481C>G	NM_020461.3	NP_065194.2:p.(Ala1494Gly)	NC_000022.10:g.50657720G>C	VUS	1 lab	718ed58d72
8:61732565 CHD7 G>A	8	61732565	61732565	G	A	CHD7				NC_000008.10:g.61732565G>A	(Likely) pathogenic	1 lab	7190c4ac35
13:51544059 RNASEH2B C>T	13	51544059	51544059	C	T	RNASEH2B	c.742-9C>T	NM_001142279.2	NP_001135751.1:p.?	NC_000013.10:g.51544059C>T	(Likely) benign	1 lab	71913286b6
2:74594519 DCTN1 T>C	2	74594519	74594519	T	C	DCTN1	c.2213A>G	NM_004082.4	NP_004073.2:p.(Gln738Arg)	NC_000002.11:g.74594519T>C	VUS	1 lab	71929420c7
5:226104 SDHA G>A	5	226104	226104	G	A	SDHA	c.563G>A	NM_004168.4	NP_004159.2:p.(Arg188Gln)	NC_000005.9:g.226104G>A	(Likely) pathogenic	1 lab	f708fb41de
12:52865839 KRT6C G>T	12	52865839	52865839	G	T	KRT6C	c.755+11C>A	NM_173086.5	NP_775109.2:p.?	NC_000012.11:g.52865839G>T	(Likely) benign	1 lab	f714674c06
13:84455526 SLITRK1 G>A	13	84455526	84455526	G	A	SLITRK1	c.117C>T	NM_052910.2	NP_443142.1:p.(His39=)	NC_000013.10:g.84455526G>A	(Likely) benign	1 lab	7195c8ef30
15:31197709 FAN1 C>CA	15	31197709	31197710	C	CA	FAN1	c.844dup	NM_014967.4	NP_055782.3:p.(Ser282LysfsTer13)	NC_000015.9:g.31197710dup	(Likely) pathogenic	1 lab	7195cb1a36
17:29667669 NF1 C>G	17	29667669	29667669	C	G	NF1	c.6999+6C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29667669C>G	(Likely) benign	1 lab	7195d5eed3
10:76735449 KAT6B C>T	10	76735449	76735449	C	T	KAT6B	c.1354C>T	NM_012330.3	NP_036462.2:p.(Arg452Ter)	NC_000010.10:g.76735449C>T	(Likely) pathogenic	1 lab	7196ca8354
7:91752476 CYP51A1 T>C	7	91752476	91752476	T	C	CYP51A1	c.1044A>G	NM_000786.3	NP_000777.1:p.(Lys348=)	NC_000007.13:g.91752476T>C	(Likely) benign	1 lab	7197f76884
17:40688571 NAGLU GCG>CCC	17	40688571	40688573	GCG	CCC	NAGLU	c.281_283delinsCCC	NM_000263.3	NP_000254.2:p.(Arg94_Asp95delinsProHis)	NC_000017.10:g.40688571_40688573delinsCCC	(Likely) pathogenic	1 lab	7199cb4490
1:120457987 NOTCH2 C>T	1	120457987	120457987	C	T	NOTCH2	c.7358G>A	NM_024408.3	NP_077719.2:p.(Arg2453Gln)	NC_000001.10:g.120457987C>T	VUS	1 lab	719b80613a
8:145772857 ARHGAP39 C>T	8	145772857	145772857	C	T	ARHGAP39	c.1613G>A	NM_001308207.1	NP_001295136.1:p.(Arg538Gln)	NC_000008.10:g.145772857C>T	(Likely) benign	1 lab	719c25dad1
12:56631124 SLC39A5 GGTGA>G	12	56631124	56631129	GGTGA	G	SLC39A5	c.1479+2_1479+5del	NM_173596.3	NP_775867.2:p.?	NC_000012.11:g.56631126_56631129del	(Likely) pathogenic	1 lab	719cab43e8
16:2134568 TSC2 TC>T	16	2134568	2134574	TC	T	TSC2	c.4351del	NM_000548.5	NP_000539.2:p.(Arg1451AlafsTer25)	NC_000016.9:g.2134574del	(Likely) pathogenic	1 lab	719d906387
4:126371796 FAT4 A>T	4	126371796	126371796	A	T	FAT4	c.9631A>T	NM_001291303.1	NP_001278232.1:p.(Ser3211Cys)	NC_000004.11:g.126371796A>T	VUS	1 lab	719eeab883
X:37026752 FAM47C C>G	X	37026752	37026752	C	G	FAM47C	c.269C>G	NM_001013736.2	NP_001013758.1:p.(Pro90Arg)	NC_000023.10:g.37026752C>G	(Likely) benign	1 lab	719f7f5dae
19:40433868 FCGBP C>T	19	40433868	40433868	C	T	FCGBP	c.401G>A	NM_003890.2	NP_003881.2:p.(Arg134Gln)	NC_000019.9:g.40433868C>T	(Likely) benign	1 lab	71a0ec4c75
16:30381208 TBC1D10B T>G	16	30381208	30381208	T	G	TBC1D10B	c.297A>C	NM_015527.4	NP_056342.3:p.(Glu99Asp)	NC_000016.9:g.30381208T>G	(Likely) benign	1 lab	71a22a1cc9
13:60435596 DIAPH3 G>A	13	60435596	60435596	G	A	DIAPH3	c.2682C>T	NM_001042517.1	NP_001035982.1:p.(Tyr894=)	NC_000013.10:g.60435596G>A	(Likely) benign	1 lab	71a6c41539
4:107253029 AIMP1 C>T	4	107253029	107253029	C	T	AIMP1	c.592C>T	NM_004757.3	NP_004748.2:p.(Pro198Ser)	NC_000004.11:g.107253029C>T	VUS	1 lab	71a861b5dd
3:132409458 NPHP3 G>A	3	132409458	132409458	G	A	NPHP3	c.2607C>T	NM_153240.4	NP_694972.3:p.(Leu869=)	NC_000003.11:g.132409458G>A	(Likely) benign	1 lab	71a8911915
16:2158991 PKD1 G>A	16	2158991	2158991	G	A	PKD1	c.6177C>T	NM_001009944.2	NP_001009944.2:p.(Asp2059=)	NC_000016.9:g.2158991G>A	(Likely) benign	1 lab	71a95d078a
7:107564542 LAMB1 G>T	7	107564542	107564542	G	T	LAMB1	c.5225-10C>A	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107564542G>T	(Likely) benign	1 lab	f7166bc5c7
X:153172510 AVPR2 G>A	X	153172510	153172510	G	A	AVPR2	n.1491G>A	NR_027419.1		NC_000023.10:g.153172510G>A	VUS	1 lab	71aaa96020
11:117242182 CEP164 A>G	11	117242182	117242182	A	G	CEP164	c.1152A>G	NM_014956.4	NP_055771.4:p.(Gln384=)	NC_000011.9:g.117242182A>G	(Likely) benign	1 lab	71aab32bd6
16:72822009 ZFHX3 TGCTGCTGCTGCTGCTGTAGTTGCC>T	16	72822009	72822049	TGCTGCTGCTGCTGCTGTAGTTGCC	T	ZFHX3	c.10142_10165del	NM_006885.4	NP_008816.3:p.(Arg3381_Gln3388del)	NC_000016.9:g.72822026_72822049del	VUS	1 lab	f717ccd725
15:89872221 POLG TG>T	15	89872221	89872227	TG	T	POLG	c.975del	NM_002693.3	NP_002684.1:p.(Thr326GlnfsTer39)	NC_000015.9:g.89872227del	(Likely) pathogenic	1 lab	71ac1e279a
12:110024597 MVK T>C	12	110024597	110024597	T	C	MVK	c.670T>C	NM_000431.2	NP_000422.1:p.(Leu224=)	NC_000012.11:g.110024597T>C	(Likely) benign	1 lab	71ae5e59d9
16:2127477 TSC2 G>A	16	2127477	2127477	G	A	TSC2	c.2838-122G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2127477G>A	(Likely) pathogenic	1 lab	71aed26f97
5:169535194 FOXI1 C>T	5	169535194	169535194	C	T	FOXI1	c.716C>T	NM_012188.4	NP_036320.2:p.(Pro239Leu)	NC_000005.9:g.169535194C>T	(Likely) benign	1 lab	71b115bfe6
18:6999553 LAMA1 G>A	18	6999553	6999553	G	A	LAMA1	c.4554C>T	NM_005559.3	NP_005550.2:p.(His1518=)	NC_000018.9:g.6999553G>A	(Likely) benign	1 lab	71b1b964a1
15:43552700 TGM5 G>T	15	43552700	43552700	G	T	TGM5	c.88C>A	NM_201631.3	NP_963925.2:p.(His30Asn)	NC_000015.9:g.43552700G>T	(Likely) benign	1 lab	71b252d5bf
8:43014104 HGSNAT T>C	8	43014104	43014104	T	C	HGSNAT	c.410T>C	NM_152419.2	NP_689632.2:p.(Leu137Pro)	NC_000008.10:g.43014104T>C	(Likely) pathogenic	1 lab	71b3b2a917
X:151453153 GABRA3 G>C	X	151453153	151453153	G	C	GABRA3	c.317C>G	NM_000808.3	NP_000799.1:p.(Ser106Ter)	NC_000023.10:g.151453153G>C	VUS	1 lab	71b43d26d4
4:1733021 TACC3 C>T	4	1733021	1733021	C	T	TACC3	c.1584C>T	NM_006342.3	NP_006333.1:p.(Pro528=)	NC_000004.11:g.1733021C>T	(Likely) benign	1 lab	71b5424a3e
2:225422459 CUL3 CAT>C	2	225422459	225422461	CAT	C	CUL3	c.179_180del	NM_003590.5	NP_003581.1:p.(Asn60SerfsTer8)	NC_000002.11:g.225422460_225422461del	VUS	1 lab	71b547e331
11:62381076 ROM1 C>T	11	62381076	62381076	C	T	ROM1	c.323C>T	NM_000327.3	NP_000318.1:p.(Thr108Met)	NC_000011.9:g.62381076C>T	(Likely) benign	1 lab	71b55cae02
7:47917128 PKD1L1 C>T	7	47917128	47917128	C	T	PKD1L1	c.3622G>A	NM_138295.4	NP_612152.1:p.(Ala1208Thr)	NC_000007.13:g.47917128C>T	(Likely) benign	1 lab	71b6910eb6
22:31851267 EIF4ENIF1 G>A	22	31851267	31851267	G	A	EIF4ENIF1	c.1134C>T	NM_001164501.1	NP_001157973.1:p.(Asn378=)	NC_000022.10:g.31851267G>A	(Likely) benign	1 lab	71b71e3635
12:49578945 TUBA1A G>A	12	49578945	49578945	G	A	TUBA1A	c.1204C>T	NM_001270399.1	NP_001257328.1:p.(Arg402Cys)	NC_000012.11:g.49578945G>A	(Likely) pathogenic	1 lab	71b77d076f
17:19566694 ALDH3A2 A>G	17	19566694	19566694	A	G	ALDH3A2	c.989A>G	NM_001031806.1	NP_001026976.1:p.(Glu330Gly)	NC_000017.10:g.19566694A>G	VUS	1 lab	71b7adff07
19:54301512 NLRP12 C>G	19	54301512	54301512	C	G	NLRP12	c.2915G>C	NM_001277126.1	NP_001264055.1:p.(Arg972Thr)	NC_000019.9:g.54301512C>G	VUS	1 lab	71b89256cd
X:67938022 STARD8 G>A	X	67938022	67938022	G	A	STARD8	c.1266G>A	NM_001142503.2	NP_001135975.1:p.(Glu422=)	NC_000023.10:g.67938022G>A	(Likely) benign	1 lab	71b9c713f6
7:103216070 RELN C>T	7	103216070	103216070	C	T	RELN	c.4228G>A	NM_173054.2	NP_774959.1:p.(Glu1410Lys)	NC_000007.13:g.103216070C>T	VUS	1 lab	71ba689ef3
9:119460709 TRIM32 A>G	9	119460709	119460709	A	G	TRIM32	c.688A>G	NM_012210.3	NP_036342.2:p.(Ile230Val)	NC_000009.11:g.119460709A>G	VUS	1 lab	71bb23a6a1
16:2110704 TSC2 G>T	16	2110704	2110704	G	T	TSC2	c.1009G>T	NM_000548.3	NP_000539.2:p.(Glu337Ter)	NC_000016.9:g.2110704G>T	(Likely) pathogenic	1 lab	71bb57b9e9
X:100401197 CENPI G>C	X	100401197	100401197	G	C	CENPI	c.1757G>C	NM_006733.3	NP_006724.2:p.(Gly586Ala)	NC_000023.10:g.100401197G>C	(Likely) benign	1 lab	71bc12b8bd
6:35103966 MISSING C>T	6	35103966	35103966	C	T	MISSING				NC_000006.11:g.35103966C>T	(Likely) benign	1 lab	71bcea4388
6:112486476 LAMA4 T>C	6	112486476	112486476	T	C	LAMA4	c.1554A>G	NM_001105206.2	NP_001098676.2:p.(Lys518=)	NC_000006.11:g.112486476T>C	(Likely) benign	1 lab	71bd77a277
X:153695449 PLXNA3 G>A	X	153695449	153695449	G	A	PLXNA3	c.3157G>A	NM_017514.4	NP_059984.3:p.(Glu1053Lys)	NC_000023.10:g.153695449G>A	VUS	1 lab	71bebb7352
7:100349536 ZAN A>G	7	100349536	100349536	A	G	ZAN	c.1808A>G	NM_003386.2	NP_003377.2:p.(Glu603Gly)	NC_000007.13:g.100349536A>G	(Likely) benign	1 lab	71c28e65ba
12:52201212 SCN8A AGAG>A	12	52201212	52201218	AGAG	A	SCN8A	c.*3_*5del	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52201216_52201218del	(Likely) benign	1 lab	71c2dabcfc
14:50206874 KLHDC1 A>G	14	50206874	50206874	A	G	KLHDC1	c.955A>G	NM_172193.3	NP_751943.1:p.(Lys319Glu)	NC_000014.8:g.50206874A>G	VUS	1 lab	71c3f5d5eb
15:42434235 PLA2G4F C>T	15	42434235	42434235	C	T	PLA2G4F	c.2497G>A	NM_213600.3	NP_998765.3:p.(Ala833Thr)	NC_000015.9:g.42434235C>T	VUS	1 lab	71c46627e9
1:236918347 ACTN2 C>G	1	236918347	236918347	C	G	ACTN2	c.2003C>G	NM_001103.3	NP_001094.1:p.(Thr668Arg)	NC_000001.10:g.236918347C>G	VUS	1 lab	71c53f1085
2:16085744 MYCN C>T	2	16085744	16085744	C	T	MYCN	c.920C>T	NM_005378.5	NP_005369.2:p.(Ala307Val)	NC_000002.11:g.16085744C>T	VUS	1 lab	71c58d4066
7:128494511 FLNC T>C	7	128494511	128494511	T	C	FLNC	c.6772T>C	NM_001458.4	NP_001449.3:p.(Ser2258Pro)	NC_000007.13:g.128494511T>C	(Likely) pathogenic	1 lab	71c6ec6cbd
9:13219572 MPDZ T>C	9	13219572	13219572	T	C	MPDZ	c.1072A>G	NM_001261406.1	NP_001248335.1:p.(Thr358Ala)	NC_000009.11:g.13219572T>C	(Likely) benign	1 lab	71cbe73f6b
12:124272442 DNAH10 A>T	12	124272442	124272442	A	T	DNAH10	c.1330A>T	NM_207437.3	NP_997320.2:p.(Ile444Leu)	NC_000012.11:g.124272442A>T	VUS	1 lab	71cdc02b35
6:112452267 LAMA4 CAGT>C	6	112452267	112452271	CAGT	C	LAMA4	c.3868_3870del	NM_001105206.3	NP_001098676.2:p.(Thr1290del)	NC_000006.11:g.112452269_112452271del	VUS	1 lab	71cecfe237
22:25598695 CRYBB3 G>A	22	25598695	25598695	G	A	CRYBB3	c.130G>A	NM_004076.4	NP_004067.1:p.(Glu44Lys)	NC_000022.10:g.25598695G>A	VUS	1 lab	71d0bc02c9
9:117168811 WHRN G>A	9	117168811	117168811	G	A	WHRN	c.2060C>T	NM_015404.3	NP_056219.3:p.(Pro687Leu)	NC_000009.11:g.117168811G>A	VUS	1 lab	71d0d4338c
3:47890182 DHX30 C>T	3	47890182	47890182	C	T	DHX30	c.2560C>T	NM_001330990.1	NP_001317919.1:p.(Arg854Trp)	NC_000003.11:g.47890182C>T	VUS	1 lab	71d0e22339
1:11090254 MASP2 A>G	1	11090254	11090254	A	G	MASP2	c.1276T>C	NM_006610.3	NP_006601.2:p.(Ser426Pro)	NC_000001.10:g.11090254A>G	(Likely) benign	1 lab	71d1d47e6b
2:26427022 HADHA C>T	2	26427022	26427022	C	T	HADHA	c.1129G>A	NM_000182.4	NP_000173.2:p.(Ala377Thr)	NC_000002.11:g.26427022C>T	VUS	1 lab	71d25395c3
22:38153696 TRIOBP C>T	22	38153696	38153696	C	T	TRIOBP	c.5764C>T	NM_001039141.2	NP_001034230.1:p.(Arg1922Trp)	NC_000022.10:g.38153696C>T	(Likely) benign	1 lab	71d2e8ea89
X:39923787 BCOR C>G	X	39923787	39923787	C	G	BCOR	c.3304G>C	NM_001123385.1	NP_001116857.1:p.(Val1102Leu)	NC_000023.10:g.39923787C>G	(Likely) benign	1 lab	71d3a65718
12:109613788 ACACB T>C	12	109613788	109613788	T	C	ACACB	c.1269T>C	NM_001093.3	NP_001084.3:p.(Ser423=)	NC_000012.11:g.109613788T>C	(Likely) benign	1 lab	71d3d04ceb
17:29422389 NF1 T>C	17	29422389	29422389	T	C	NF1	c.60+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422389T>C	(Likely) pathogenic	1 lab	71d6560604
21:46330254 ITGB2 C>T	21	46330254	46330254	C	T	ITGB2	c.92G>A	NM_000211.3	NP_000202.2:p.(Ser31Asn)	NC_000021.8:g.46330254C>T	(Likely) benign	1 lab	71d73810d1
7:55270293 EGFR AGAC>A	7	55270293	55270299	AGAC	A	EGFR	c.3250_3252del	NM_005228.5	NP_005219.2:p.(Asp1084del)	NC_000007.13:g.55270297_55270299del	VUS	1 lab	71d9a1c9af
20:62327184 RTEL1 G>A	20	62327184	62327184	G	A	RTEL1	c.3876G>A	NM_001283009.1	NP_001269938.1:p.(Met1292Ile)	NC_000020.10:g.62327184G>A	(Likely) benign	1 lab	71df3bc4f9
18:12351422 AFG3L2 A>G	18	12351422	12351422	A	G	AFG3L2	c.1319-10T>C	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12351422A>G	(Likely) benign	1 lab	71df694aa7
X:47061889 UBA1 C>T	X	47061889	47061889	C	T	UBA1	c.1042C>T	NM_003334.4	NP_003325.2:p.(Arg348Trp)	NC_000023.10:g.47061889C>T	VUS	1 lab	71e3d5e54d
5:118835177 HSD17B4 A>G	5	118835177	118835177	A	G	HSD17B4	c.1213A>G	NM_001199291.2	NP_001186220.1:p.(Ile405Val)	NC_000005.9:g.118835177A>G	(Likely) benign	1 lab	71e3e71866
9:5923059 BRD10 A>G	9	5923059	5923059	A	G	BRD10	c.2937T>C	NM_001017969.3	NP_001017969.2:p.(His979=)	NC_000009.11:g.5923059A>G	(Likely) benign	1 lab	71e4eac87e
11:1270385 MUC5B C>G	11	1270385	1270385	C	G	MUC5B	c.12275C>G	NM_002458.2	NP_002449.2:p.(Ala4092Gly)	NC_000011.9:g.1270385C>G	(Likely) benign	1 lab	71e5229f26
18:44085826 LOXHD1 C>T	18	44085826	44085826	C	T	LOXHD1	c.5667G>A	NM_144612.6	NP_653213.6:p.(Lys1889=)	NC_000018.9:g.44085826C>T	(Likely) benign	1 lab	71e5c3bd92
20:61050069 GATA5 C>A	20	61050069	61050069	C	A	GATA5	c.509G>T	NM_080473.4	NP_536721.1:p.(Arg170Leu)	NC_000020.10:g.61050069C>A	VUS	1 lab	71e8349028
6:62390889 KHDRBS2 T>G	6	62390889	62390889	T	G	KHDRBS2	c.1029A>C	NM_152688.4	NP_689901.2:p.(Glu343Asp)	NC_000006.11:g.62390889T>G	(Likely) benign	1 lab	71e9664f6a
3:179294421 ACTL6A C>T	3	179294421	179294421	C	T	ACTL6A	c.585C>T	NM_004301.5	NP_004292.1:p.(Ser195=)	NC_000003.11:g.179294421C>T	(Likely) benign	1 lab	f71ca8376c
X:148037822 AFF2 C>G	X	148037822	148037822	C	G	AFF2	c.2247C>G	NM_002025.3	NP_002016.2:p.(Ile749Met)	NC_000023.10:g.148037822C>G	(Likely) benign	1 lab	71ebe876cb
2:131519775 AMER3 C>G	2	131519775	131519775	C	G	AMER3	c.130C>G	NM_152698.2	NP_689911.2:p.(Gln44Glu)	NC_000002.11:g.131519775C>G	VUS	1 lab	71edd3effa
5:141336009 PCDH12 G>A	5	141336009	141336009	G	A	PCDH12	c.1408C>T	NM_016580.3	NP_057664.1:p.(Arg470Trp)	NC_000005.9:g.141336009G>A	(Likely) benign	1 lab	71ede76e62
4:3240667 HTT C>T	4	3240667	3240667	C	T	HTT	c.9183C>T	NM_002111.8	NP_002102.4:p.(Phe3061=)	NC_000004.11:g.3240667C>T	(Likely) benign	1 lab	71eec2be69
11:118959930 HMBS GGA>G	11	118959930	118959936	GGA	G	HMBS	c.219_220del	NM_000190.4	NP_000181.2:p.(Ser75ProfsTer7)	NC_000011.9:g.118959935_118959936del	(Likely) pathogenic	1 lab	71ef42f7eb
3:3188154 TRNT1 C>G	3	3188154	3188154	C	G	TRNT1	c.649C>G	NM_001367321.1	NP_001354250.1:p.(Pro217Ala)	NC_000003.11:g.3188154C>G	(Likely) benign	1 lab	71f02feece
5:55265479 IL6ST G>A	5	55265479	55265479	G	A	IL6ST	c.269C>T	NM_002184.4	NP_002175.2:p.(Thr90Ile)	NC_000005.9:g.55265479G>A	VUS	1 lab	71f09093b2
5:149501466 PDGFRB G>C	5	149501466	149501466	G	C	PDGFRB	c.2321C>G	NM_002609.3	NP_002600.1:p.(Pro774Arg)	NC_000005.9:g.149501466G>C	VUS	1 lab	71f0c867c5
X:20030647 MAP7D2 T>C	X	20030647	20030647	T	C	MAP7D2	c.1892A>G	NM_001168465.2	NP_001161937.1:p.(Asn631Ser)	NC_000023.10:g.20030647T>C	VUS	1 lab	71f340ee02
10:123279562 FGFR2 C>G	10	123279562	123279562	C	G	FGFR2	c.870G>C	NM_000141.4	NP_000132.3:p.(Trp290Cys)	NC_000010.10:g.123279562C>G	(Likely) pathogenic	1 lab	71f57c0368
17:29685524 NF1 A>G	17	29685524	29685524	A	G	NF1	c.7997A>G	NM_001042492.2	NP_001035957.1:p.(Asn2666Ser)	NC_000017.10:g.29685524A>G	(Likely) benign	1 lab	71f58c82c7
4:152592469 GATB A>ATTAC	4	152592469	152592480	A	ATTAC	GATB	c.1546-19_1546-16dup	NM_004564.3	NP_004555.1:p.?	NC_000004.11:g.152592477_152592480dup	(Likely) benign	1 lab	f71d2ed5f4
8:55540316 RP1 T>C	8	55540316	55540316	T	C	RP1	c.3874T>C	NM_006269.1	NP_006260.1:p.(Ser1292Pro)	NC_000008.10:g.55540316T>C	(Likely) benign	1 lab	71f671c7dc
16:3063601 CLDN9 G>T	16	3063601	3063601	G	T	CLDN9	c.238G>T	NM_020982.4	NP_066192.1:p.(Ala80Ser)	NC_000016.9:g.3063601G>T	VUS	1 lab	71f7adec59
18:13056178 CEP192 C>G	18	13056178	13056178	C	G	CEP192	c.3589C>G	NM_032142.4	NP_115518.3:p.(Gln1197Glu)	NC_000018.9:g.13056178C>G	(Likely) benign	1 lab	71f8fda069
7:103179594 RELN C>T	7	103179594	103179594	C	T	RELN	c.7111G>A	NM_173054.2	NP_774959.1:p.(Ala2371Thr)	NC_000007.13:g.103179594C>T	(Likely) benign	1 lab	71fd70dc16
21:44270342 WDR4 G>A	21	44270342	44270342	G	A	WDR4	c.618C>T	NM_001260477.1	NP_001247406.1:p.(Gly206=)	NC_000021.8:g.44270342G>A	(Likely) benign	1 lab	7201b9878a
17:34073294 GAS2L2 G>A	17	34073294	34073294	G	A	GAS2L2	c.1222C>T	NM_139285.3	NP_644814.1:p.(Pro408Ser)	NC_000017.10:g.34073294G>A	(Likely) benign	1 lab	7202607942
19:2015343 BTBD2 G>A	19	2015343	2015343	G	A	BTBD2	c.360C>T	NM_017797.3	NP_060267.2:p.(His120=)	NC_000019.9:g.2015343G>A	(Likely) benign	1 lab	7202e45fb3
5:16666832 MYO10 C>T	5	16666832	16666832	C	T	MYO10	c.6146G>A	NM_012334.3	NP_036466.2:p.(Arg2049His)	NC_000005.9:g.16666832C>T	VUS	1 lab	7202e49d8e
10:75391823 MYOZ1 C>A	10	75391823	75391823	C	A	MYOZ1	c.765G>T	NM_021245.4	NP_067068.1:p.(Leu255=)	NC_000010.10:g.75391823C>A	(Likely) benign	1 lab	f71fc2e4ee
X:153668298 GDI1 C>T	X	153668298	153668298	C	T	GDI1	c.399C>T	NM_001493.2	NP_001484.1:p.(Gly133=)	NC_000023.10:g.153668298C>T	VUS	1 lab	7203a7e8fc
20:62325761 RTEL1 C>T	20	62325761	62325761	C	T	RTEL1	c.3101C>T	NM_032957.5	NP_116575.3:p.(Thr1034Met)	NC_000020.10:g.62325761C>T	VUS	1 lab	f721a342a8
11:93540776 MED17 A>T	11	93540776	93540776	A	T	MED17	c.1559A>T	NM_004268.4	NP_004259.3:p.(Glu520Val)	NC_000011.9:g.93540776A>T	VUS	1 lab	7210324afc
4:39236446 WDR19 GACCAGAT>G	4	39236446	39236456	GACCAGAT	G	WDR19	c.2318_2324del	NM_025132.4	NP_079408.3:p.(Gln773LeufsTer18)	NC_000004.11:g.39236450_39236456del	VUS	1 lab	7207a9d155
14:102449497 DYNC1H1 G>A	14	102449497	102449497	G	A	DYNC1H1	c.1103G>A	NM_001376.5	NP_001367.2:p.(Arg368Gln)	NC_000014.8:g.102449497G>A	(Likely) pathogenic	1 lab	f72afc0b43
14:58924507 KIAA0586 C>T	14	58924507	58924507	C	T	KIAA0586	c.1393C>T	NM_001329943.2	NP_001316872.1:p.(Pro465Ser)	NC_000014.8:g.58924507C>T	VUS	1 lab	720893a546
5:58289231 PDE4D T>G	5	58289231	58289231	T	G	PDE4D	c.593A>C	NM_001197220.1	NP_001184149.1:p.(Gln198Pro)	NC_000005.9:g.58289231T>G	VUS	1 lab	7208c290fb
21:47786981 PCNT G>A	21	47786981	47786981	G	A	PCNT	c.3092G>A	NM_006031.5	NP_006022.3:p.(Arg1031Gln)	NC_000021.8:g.47786981G>A	(Likely) benign	1 lab	72095fd283
7:98547364 TRRAP G>A	7	98547364	98547364	G	A	TRRAP	c.4960G>A	NM_003496.4	NP_003487.1:p.(Val1654Met)	NC_000007.13:g.98547364G>A	VUS	1 lab	f72d820aba
19:3759791 APBA3 C>A	19	3759791	3759791	C	A	APBA3	c.472G>T	NM_004886.4	NP_004877.1:p.(Ala158Ser)	NC_000019.9:g.3759791C>A	(Likely) benign	1 lab	720a903e00
14:54417138 BMP4 C>T	14	54417138	54417138	C	T	BMP4	c.839G>A	NM_001202.5	NP_001193.2:p.(Arg280Gln)	NC_000014.8:g.54417138C>T	VUS	1 lab	720b884859
8:61707629 CHD7 AG>A	8	61707629	61707630	AG	A	CHD7	c.2182del	NM_017780.4	NP_060250.2:p.(Asp728ThrfsTer27)	NC_000008.10:g.61707630del	(Likely) pathogenic	1 lab	720c48274b
5:33944827 SLC45A2 C>G	5	33944827	33944827	C	G	SLC45A2	c.1519G>C	NM_016180.4	NP_057264.3:p.(Val507Leu)	NC_000005.9:g.33944827C>G	VUS	1 lab	720dbf9365
10:73556853 CDH23 G>A	10	73556853	73556853	G	A	CDH23	c.6713-8G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73556853G>A	(Likely) benign	1 lab	720fb7e1bb
X:2878451 ARSL C>G	X	2878451	2878451	C	G	ARSL	c.18G>C	NM_001282631.1	NP_001269560.1:p.(Glu6Asp)	NC_000023.10:g.2878451C>G	(Likely) benign	1 lab	7211b00ca6
12:53819305 AMHR2 G>A	12	53819305	53819305	G	A	AMHR2	c.569G>A	NM_020547.3	NP_065434.1:p.(Gly190Asp)	NC_000012.11:g.53819305G>A	(Likely) benign	1 lab	7211df5659
22:40816552 MRTFA C>T	22	40816552	40816552	C	T	MRTFA				NC_000022.10:g.40816552C>T	VUS	1 lab	721217b689
X:102192267 RAB40AL C>T	X	102192267	102192267	C	T	RAB40AL	c.21C>T	NM_001031834.1	NP_001027004.1:p.(Pro7=)	NC_000023.10:g.102192267C>T	(Likely) benign	1 lab	72121bf8b3
19:6832218 VAV1 C>A	19	6832218	6832218	C	A	VAV1	c.1508+7C>A	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6832218C>A	(Likely) benign	1 lab	72126fbc86
20:10639284 JAG1 C>T	20	10639284	10639284	C	T	JAG1	c.526G>A	NM_000214.3	NP_000205.1:p.(Val176Ile)	NC_000020.10:g.10639284C>T	(Likely) benign	1 lab	721362fb09
16:67654660 CTCF TTGTGCAGTTATG>T	16	67654660	67654672	TTGTGCAGTTATG	T	CTCF	c.1148_1159del	NM_006565.4	NP_006556.1:p.(Leu383_Ala387delinsSer)	NC_000016.9:g.67654661_67654672del	(Likely) pathogenic	1 lab	f7304ecd69
2:63712120 WDPCP T>C	2	63712120	63712120	T	C	WDPCP	c.255A>G	NM_015910.6	NP_056994.3:p.(Ser85=)	NC_000002.11:g.63712120T>C	(Likely) benign	1 lab	7218c24cc7
10:13325758 PHYH C>T	10	13325758	13325758	C	T	PHYH	c.460G>A	NM_001323080.1	NP_001310009.1:p.(Asp154Asn)	NC_000010.10:g.13325758C>T	VUS	1 lab	721a02066d
17:80332911 UTS2R C>T	17	80332911	80332911	C	T	UTS2R	c.711C>T	NM_018949.2	NP_061822.1:p.(Ala237=)	NC_000017.10:g.80332911C>T	(Likely) benign	1 lab	721ac249a4
3:3170831 TRNT1 A>T	3	3170831	3170831	A	T	TRNT1	c.107A>T	NM_182916.3	NP_886552.3:p.(Glu36Val)	NC_000003.11:g.3170831A>T	VUS	1 lab	721e05a083
X:109695965 RTL9 C>A	X	109695965	109695965	C	A	RTL9	c.2120C>A	NM_020769.2	NP_065820.1:p.(Ala707Asp)	NC_000023.10:g.109695965C>A	(Likely) benign	1 lab	721eb62077
7:4830314 AP5Z1 T>G	7	4830314	4830314	T	G	AP5Z1	c.1949T>G	NM_014855.3	NP_055670.1:p.(Ile650Ser)	NC_000007.13:g.4830314T>G	VUS	1 lab	721f6647ed
1:36939379 CSF3R A>G	1	36939379	36939379	A	G	CSF3R	c.471T>C	NM_156039.3	NP_724781.1:p.(Thr157=)	NC_000001.10:g.36939379A>G	(Likely) benign	1 lab	7220a8d0c9
1:224621505 WDR26 G>A	1	224621505	224621505	G	A	WDR26	c.303C>T	NM_025160.6	NP_079436.4:p.(Ala101=)	NC_000001.10:g.224621505G>A	(Likely) benign	1 lab	7220e722c4
1:243736244 AKT3 A>G	1	243736244	243736244	A	G	AKT3				NC_000001.10:g.243736244A>G	(Likely) pathogenic	1 lab	7221bc771c
2:207009657 NDUFS1 C>T	2	207009657	207009657	C	T	NDUFS1	c.831G>A	NM_005006.6	NP_004997.4:p.(Met277Ile)	NC_000002.11:g.207009657C>T	(Likely) benign	1 lab	722205ebf6
22:36661338 APOL1 G>A	22	36661338	36661338	G	A	APOL1	c.504G>A	NM_145343.2	NP_663318.1:p.(Glu168=)	NC_000022.10:g.36661338G>A	(Likely) benign	1 lab	72220f81c1
17:41256975 BRCA1 T>G	17	41256975	41256975	T	G	BRCA1	c.213-2A>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256975T>G	(Likely) pathogenic	1 lab	f730dc1eb4
5:68715521 MARVELD2 G>A	5	68715521	68715521	G	A	MARVELD2	c.309G>A	NM_001038603.2	NP_001033692.2:p.(Val103=)	NC_000005.9:g.68715521G>A	(Likely) benign	1 lab	7222961013
5:43628283 NNT A>G	5	43628283	43628283	A	G	NNT	c.777-19A>G	NM_012343.4	NP_036475.3:p.?	NC_000005.9:g.43628283A>G	(Likely) benign	1 lab	f7338c32b6
7:83823816 SEMA3A C>T	7	83823816	83823816	C	T	SEMA3A	c.87G>A	NM_006080.2	NP_006071.1:p.(Val29=)	NC_000007.13:g.83823816C>T	(Likely) benign	1 lab	7223826920
2:152350714 NEB C>T	2	152350714	152350714	C	T	NEB	c.24645G>A	NM_001271208.1	NP_001258137.1:p.(Glu8215=)	NC_000002.11:g.152350714C>T	(Likely) benign	1 lab	7228531cda
1:216040434 USH2A C>T	1	216040434	216040434	C	T	USH2A	c.8760G>A	NM_206933.2	NP_996816.2:p.(Thr2920=)	NC_000001.10:g.216040434C>T	(Likely) benign	1 lab	722b28ea69
15:28358408 HERC2 G>A	15	28358408	28358408	G	A	HERC2	c.14041C>T	NM_004667.5	NP_004658.3:p.(Pro4681Ser)	NC_000015.9:g.28358408G>A	VUS	1 lab	723e205957
16:56536339 BBS2 T>A	16	56536339	56536339	T	A	BBS2	c.970A>T	NM_031885.3	NP_114091.3:p.(Met324Leu)	NC_000016.9:g.56536339T>A	VUS	1 lab	722d8ee864
1:228432108 OBSCN C>A	1	228432108	228432108	C	A	OBSCN	c.3593C>A	NM_001271223.2	NP_001258152.2:p.(Thr1198Lys)	NC_000001.10:g.228432108C>A	(Likely) benign	1 lab	722e293b1b
6:30709046 FLOT1 G>A	6	30709046	30709046	G	A	FLOT1	c.275C>T	NM_005803.4	NP_005794.1:p.(Thr92Met)	NC_000006.11:g.30709046G>A	VUS	1 lab	72310d699f
7:5410707 TNRC18 G>A	7	5410707	5410707	G	A	TNRC18	c.3518C>T	NM_001080495.2	NP_001073964.2:p.(Pro1173Leu)	NC_000007.13:g.5410707G>A	VUS	1 lab	723129b2e1
9:117848668 TNC G>C	9	117848668	117848668	G	C	TNC	c.1342C>G	NM_002160.3	NP_002151.2:p.(Arg448Gly)	NC_000009.11:g.117848668G>C	(Likely) benign	1 lab	72325fe1e5
12:52908892 KRT5 C>T	12	52908892	52908892	C	T	KRT5	c.1607G>A	NM_000424.3	NP_000415.2:p.(Ser536Asn)	NC_000012.11:g.52908892C>T	(Likely) benign	1 lab	7235bac800
5:147475385 SPINK5 C>A	5	147475385	147475385	C	A	SPINK5	c.799C>A	NM_001127698.1	NP_001121170.1:p.(Gln267Lys)	NC_000005.9:g.147475385C>A	(Likely) benign	1 lab	7238889c2f
14:105611327 JAG2 G>A	14	105611327	105611327	G	A	JAG2	c.3024C>T	NM_002226.5	NP_002217.3:p.(Arg1008=)	NC_000014.8:g.105611327G>A	(Likely) benign	1 lab	72389e1a6e
14:92537308 ATXN3 G>A	14	92537308	92537308	G	A	ATXN3	c.962C>T	NM_004993.5	NP_004984.2:p.(Thr321Ile)	NC_000014.8:g.92537308G>A	(Likely) benign	1 lab	723d324efc
6:90661370 BACH2 G>A	6	90661370	90661370	G	A	BACH2	c.455C>T	NM_021813.4	NP_068585.1:p.(Pro152Leu)	NC_000006.11:g.90661370G>A	(Likely) benign	1 lab	723de5c147
17:62481973 POLG2 G>A	17	62481973	62481973	G	A	POLG2	c.982C>T	NM_007215.3	NP_009146.2:p.(Arg328Ter)	NC_000017.10:g.62481973G>A	VUS	1 lab	723fe23c84
X:30237590 MAGEB2 C>A	X	30237590	30237590	C	A	MAGEB2	c.893C>A	NM_002364.4	NP_002355.2:p.(Thr298Asn)	NC_000023.10:g.30237590C>A	(Likely) benign	1 lab	723fec8633
7:2564944 LFNG C>T	7	2564944	2564944	C	T	LFNG	c.573C>T	NM_001040167.2	NP_001035257.1:p.(Ser191=)	NC_000007.13:g.2564944C>T	(Likely) benign	1 lab	723ffab70d
15:83331618 AP3B2 G>A	15	83331618	83331618	G	A	AP3B2	c.2661C>T	NM_001278512.1	NP_001265441.1:p.(Gly887=)	NC_000015.9:g.83331618G>A	VUS	1 lab	7240642402
2:179397495 TTN C>G	2	179397495	179397495	C	G	TTN	c.103847G>C	NM_001267550.1	NP_001254479.1:p.(Arg34616Thr)	NC_000002.11:g.179397495C>G	(Likely) benign	1 lab	724099a9ce
11:299395 IFITM5 CGGG>C	11	299395	299401	CGGG	C	IFITM5	c.93_95del	NM_001025295.3	NP_001020466.1:p.(Pro33del)	NC_000011.9:g.299399_299401del	VUS	1 lab	f737244dc1
18:13884981 MC2R C>T	18	13884981	13884981	C	T	MC2R	c.537G>A	NM_000529.2	NP_000520.1:p.(Thr179=)	NC_000018.9:g.13884981C>T	(Likely) benign	1 lab	f73741ab13
X:153421838 OPN1LW G>A	X	153421838	153421838	G	A	OPN1LW	c.814G>A	NM_020061.5	NP_064445.2:p.(Val272Met)	NC_000023.10:g.153421838G>A	VUS	1 lab	72422bcd9f
11:121429295 SORL1 G>A	11	121429295	121429295	G	A	SORL1	c.2664-5G>A	NM_003105.5	NP_003096.1:p.?	NC_000011.9:g.121429295G>A	(Likely) benign	1 lab	72423a74b1
22:25598754 CRYBB3 C>T	22	25598754	25598754	C	T	CRYBB3	c.189C>T	NM_004076.4	NP_004067.1:p.(Ser63=)	NC_000022.10:g.25598754C>T	(Likely) benign	1 lab	724287a97a
22:32161019 DEPDC5 T>C	22	32161019	32161019	T	C	DEPDC5	c.252T>C	NM_001242896.2	NP_001229825.1:p.(Asp84=)	NC_000022.10:g.32161019T>C	(Likely) benign	1 lab	72437cc048
9:26947471 IFT74 G>A	9	26947471	26947471	G	A	IFT74	c.-20+10G>A	NM_001099222.2	NP_001092692.1:p.?	NC_000009.11:g.26947471G>A	(Likely) benign	1 lab	724846ca77
16:57918096 CNGB1 G>A	16	57918096	57918096	G	A	CNGB1	c.3728C>T	NM_001297.4	NP_001288.3:p.(Pro1243Leu)	NC_000016.9:g.57918096G>A	VUS	1 lab	7249085cb3
2:99170958 INPP4A T>C	2	99170958	99170958	T	C	INPP4A	c.1581+6T>C	NM_001134224.1	NP_001127696.1:p.?	NC_000002.11:g.99170958T>C	VUS	1 lab	7249a84d32
15:43170823 TTBK2 C>T	15	43170823	43170823	C	T	TTBK2	c.-8G>A	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43170823C>T	(Likely) benign	1 lab	724cb4bc92
12:7046133 ATN1 TCTCTTCCTCTTCCAA>T	12	7046133	7046162	TCTCTTCCTCTTCCAA	T	ATN1	c.1718_1732del	NM_001940.4	NP_001931.2:p.(Asn573_Ser577del)	NC_000012.11:g.7046148_7046162del	VUS	1 lab	724d1cdca4
1:46073520 NASP G>A	1	46073520	46073520	G	A	NASP	c.937G>A	NM_002482.3	NP_002473.2:p.(Glu313Lys)	NC_000001.10:g.46073520G>A	VUS	1 lab	724d956abd
11:103158343 DYNC2H1 G>A	11	103158343	103158343	G	A	DYNC2H1	c.11116+9G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103158343G>A	(Likely) benign	1 lab	724fe81a35
3:142222284 ATR A>G	3	142222284	142222284	A	G	ATR	c.5208T>C	NM_001184.3	NP_001175.2:p.(Tyr1736=)	NC_000003.11:g.142222284A>G	(Likely) benign	1 lab	725205bd9f
7:45108148 CCM2 C>A	7	45108148	45108148	C	A	CCM2	c.579C>A	NM_031443.3	NP_113631.1:p.(Cys193Ter)	NC_000007.13:g.45108148C>A	(Likely) pathogenic	1 lab	7254936616
2:74594988 DCTN1 G>A	2	74594988	74594988	G	A	DCTN1	c.2019C>T	NM_004082.4	NP_004073.2:p.(Ala673=)	NC_000002.11:g.74594988G>A	(Likely) benign	1 lab	72560bbf25
12:7080239 EMG1 C>T	12	7080239	7080239	C	T	EMG1	c.154C>T	NM_006331.7	NP_006322.4:p.(Leu52=)	NC_000012.11:g.7080239C>T	(Likely) benign	1 lab	7256b18fee
3:81539600 GBE1 G>A	3	81539600	81539600	G	A	GBE1	c.2067C>T	NM_000158.3	NP_000149.3:p.(Ser689=)	NC_000003.11:g.81539600G>A	(Likely) benign	1 lab	7256dcfe00
X:132458238 GPC4 C>A	X	132458238	132458238	C	A	GPC4	c.646G>T	NM_001448.2	NP_001439.2:p.(Val216Leu)	NC_000023.10:g.132458238C>A	(Likely) benign	1 lab	72596f93f9
9:34635670 SIGMAR1 G>A	9	34635670	34635670	G	A	SIGMAR1	c.631C>T	NM_005866.3	NP_005857.1:p.(Arg211Trp)	NC_000009.11:g.34635670G>A	(Likely) benign	1 lab	725b45e914
16:57693608 ADGRG1 G>C	16	57693608	57693608	G	C	ADGRG1	c.1573+15G>C	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57693608G>C	(Likely) benign	1 lab	725c0cc525
7:1486408 MICALL2 G>A	7	1486408	1486408	G	A	MICALL2	c.582C>T	NM_182924.4	NP_891554.1:p.(His194=)	NC_000007.13:g.1486408G>A	(Likely) benign	1 lab	725c139c68
11:78381498 TENM4 C>T	11	78381498	78381498	C	T	TENM4	c.5892G>A	NM_001098816.2	NP_001092286.2:p.(Gln1964=)	NC_000011.9:g.78381498C>T	(Likely) benign	1 lab	725db6036b
8:38103239 DDHD2 T>A	8	38103239	38103239	T	A	DDHD2	c.849-21T>A	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38103239T>A	(Likely) benign	1 lab	725dd58eab
X:1751664 ASMT C>T	X	1751664	1751664	C	T	ASMT	c.630C>T	NM_004043.2	NP_004034.2:p.(Arg210=)	NC_000023.10:g.1751664C>T	(Likely) benign	1 lab	726096815e
10:55892753 PCDH15 G>C	10	55892753	55892753	G	C	PCDH15	c.1799C>G	NM_001354429.1	NP_001341358.1:p.(Thr600Ser)	NC_000010.10:g.55892753G>C	VUS	1 lab	72623944cb
9:72131832 APBA1 C>T	9	72131832	72131832	C	T	APBA1	c.295G>A	NM_001163.4	NP_001154.2:p.(Ala99Thr)	NC_000009.11:g.72131832C>T	(Likely) benign	1 lab	72627e5b24
8:145112401 OPLAH C>T	8	145112401	145112401	C	T	OPLAH	c.1372G>A	NM_017570.4	NP_060040.1:p.(Val458Met)	NC_000008.10:g.145112401C>T	VUS	1 lab	72649f628b
4:122831394 TRPC3 C>T	4	122831394	122831394	C	T	TRPC3				NC_000004.11:g.122831394C>T	(Likely) benign	1 lab	7265311a6e
9:73151926 TRPM3 A>T	9	73151926	73151926	A	T	TRPM3	c.3608T>A	NM_020952.6	NP_066003.3:p.(Ile1203Asn)	NC_000009.11:g.73151926A>T	VUS	1 lab	f73a0e84e9
19:11223981 LDLR A>G	19	11223981	11223981	A	G	LDLR	c.1214A>G	NM_000527.5	NP_000518.1:p.(Asn405Ser)	NC_000019.9:g.11223981A>G	VUS	1 lab	f73b362db3
11:709549 EPS8L2 G>T	11	709549	709549	G	T	EPS8L2	c.45-4G>T	NM_022772.3	NP_073609.2:p.?	NC_000011.9:g.709549G>T	(Likely) benign	1 lab	7266f801f2
2:80782876 CTNNA2 G>A	2	80782876	80782876	G	A	CTNNA2	c.1599G>A	NM_001282597.2	NP_001269526.1:p.(Val533=)	NC_000002.11:g.80782876G>A	(Likely) benign	1 lab	7269380231
11:63398853 ATL3 TC>T	11	63398853	63398854	TC	T	ATL3	c.1197del	NM_015459.5	NP_056274.3:p.(Lys400ArgfsTer53)	NC_000011.9:g.63398854del	(Likely) pathogenic	1 lab	7269b94ef6
7:141747618 MGAM A>G	7	141747618	141747618	A	G	MGAM	c.2532A>G	NM_004668.2	NP_004659.2:p.(Leu844=)	NC_000007.13:g.141747618A>G	(Likely) benign	1 lab	726a0f8e18
X:48673380 HDAC6 C>T	X	48673380	48673380	C	T	HDAC6	c.1071C>T	NM_006044.4	NP_006035.2:p.(Ala357=)	NC_000023.10:g.48673380C>T	(Likely) benign	1 lab	f73c48871a
2:21228174 APOB T>C	2	21228174	21228174	T	C	APOB	c.11566A>G	NM_000384.2	NP_000375.2:p.(Ile3856Val)	NC_000002.11:g.21228174T>C	(Likely) benign	1 lab	726b803601
5:131728298 SLC22A5 G>A	5	131728298	131728298	G	A	SLC22A5	c.1513G>A	NM_001308122.1	NP_001295051.1:p.(Val505Ile)	NC_000005.9:g.131728298G>A	(Likely) benign	1 lab	726cd1acee
20:36640075 TTI1 G>A	20	36640075	36640075	G	A	TTI1	c.2144C>T	NM_014657.2	NP_055472.1:p.(Thr715Ile)	NC_000020.10:g.36640075G>A	(Likely) benign	1 lab	726d0ebdd2
1:2338210 PEX10 C>T	1	2338210	2338210	C	T	PEX10	c.785G>A	NM_153818.1	NP_722540.1:p.(Arg262Gln)	NC_000001.10:g.2338210C>T	VUS	1 lab	726fb14fe7
X:66766430 AR A>G	X	66766430	66766430	A	G	AR	c.1442A>G	NM_000044.4	NP_000035.2:p.(Tyr481Cys)	NC_000023.10:g.66766430A>G	VUS	1 lab	7272d8373b
X:152225889 PNMA3 G>A	X	152225889	152225889	G	A	PNMA3	c.477G>A	NM_013364.5	NP_037496.4:p.(Met159Ile)	NC_000023.10:g.152225889G>A	(Likely) benign	1 lab	72751c31c9
X:152159903 PNMA5 A>C	X	152159903	152159903	A	C	PNMA5	c.240T>G	NM_001103150.1	NP_001096620.1:p.(Ser80Arg)	NC_000023.10:g.152159903A>C	VUS	1 lab	7276e6df8c
1:78383453 NEXN T>C	1	78383453	78383453	T	C	NEXN	c.219+11T>C	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78383453T>C	(Likely) benign	1 lab	7277b33d4b
12:58128166 AGAP2 A>G	12	58128166	58128166	A	G	AGAP2	c.1337T>C	NM_001122772.2	NP_001116244.1:p.(Met446Thr)	NC_000012.11:g.58128166A>G	(Likely) benign	1 lab	727815a578
10:102539297 PAX2 G>C	10	102539297	102539297	G	C	PAX2	c.453G>C	NM_003988.4	NP_003979.2:p.(Pro151=)	NC_000010.10:g.102539297G>C	(Likely) benign	1 lab	7278709747
15:48773926 FBN1 T>C	15	48773926	48773926	T	C	FBN1	c.3890A>G	NM_000138.4	NP_000129.3:p.(Glu1297Gly)	NC_000015.9:g.48773926T>C	(Likely) benign	1 lab	72793d4edf
5:90073785 ADGRV1 C>T	5	90073785	90073785	C	T	ADGRV1	c.12591C>T	NM_032119.4	NP_115495.3:p.(Ser4197=)	NC_000005.9:g.90073785C>T	(Likely) benign	1 lab	7279d8a36c
17:29588786 NF1 C>T	17	29588786	29588786	C	T	NF1	c.4572C>T	NM_000267.3	NP_000258.1:p.(Tyr1524=)	NC_000017.10:g.29588786C>T	(Likely) benign	1 lab	727a1ca479
20:60859169 OSBPL2 T>A	20	60859169	60859169	T	A	OSBPL2	c.940T>A	NM_144498.2	NP_653081.1:p.(Tyr314Asn)	NC_000020.10:g.60859169T>A	VUS	1 lab	727c78e165
4:22820442 MISSING T>C	4	22820442	22820442	T	C	MISSING				NC_000004.11:g.22820442T>C	(Likely) benign	1 lab	727cea6c86
11:134086858 NCAPD3 C>G	11	134086858	134086858	C	G	NCAPD3	c.354G>C	NM_015261.2	NP_056076.1:p.(Gly118=)	NC_000011.9:g.134086858C>G	(Likely) benign	1 lab	727cf060d4
16:2137897 TSC2 C>T	16	2137897	2137897	C	T	TSC2	c.5023C>T	NM_000548.3	NP_000539.2:p.(Pro1675Ser)	NC_000016.9:g.2137897C>T	VUS	1 lab	727d2a537d
17:79477815 ACTG1 G>A	17	79477815	79477815	G	A	ACTG1	c.1029C>T	NM_001199954.2	NP_001186883.1:p.(Gly343=)	NC_000017.10:g.79477815G>A	(Likely) benign	1 lab	727e736735
15:34628740 SLC12A6 G>A	15	34628740	34628740	G	A	SLC12A6	c.115C>T	NM_001042496.1	NP_001035961.1:p.(Arg39Trp)	NC_000015.9:g.34628740G>A	VUS	1 lab	727fd44594
17:29554240 NF1 A>G	17	29554240	29554240	A	G	NF1	c.2256A>G	NM_000267.3	NP_000258.1:p.(Arg752=)	NC_000017.10:g.29554240A>G	(Likely) benign	1 lab	727fee52f0
12:122243829 SETD1B A>ATGT	12	122243829	122243830	A	ATGT	SETD1B	c.362_363insTGT	NM_001353345.1	NP_001340274.1:p.(Asp121_Met122insVal)	NC_000012.11:g.122243829_122243830insTGT	VUS	1 lab	72801f5de8
11:119535829 NECTIN1 G>A	11	119535829	119535829	G	A	NECTIN1	c.1182C>T	NM_002855.5	NP_002846.3:p.(His394=)	NC_000011.9:g.119535829G>A	(Likely) benign	1 lab	728049ddc3
1:180849437 XPR1 T>C	1	180849437	180849437	T	C	XPR1	c.2030+4T>C	NM_004736.3	NP_004727.2:p.?	NC_000001.10:g.180849437T>C	(Likely) benign	1 lab	7280c74dc2
6:112521387 LAMA4 A>C	6	112521387	112521387	A	C	LAMA4	c.503+1422T>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112521387A>C	(Likely) benign	1 lab	f7405b1d2f
12:80761457 OTOGL A>G	12	80761457	80761457	A	G	OTOGL	c.6421A>G	NM_173591.3	NP_775862.3:p.(Asn2141Asp)	NC_000012.11:g.80761457A>G	(Likely) benign	1 lab	72844f4d6f
16:3860714 CREBBP C>T	16	3860714	3860714	C	T	CREBBP	c.865G>A	NM_004380.2	NP_004371.2:p.(Gly289Arg)	NC_000016.9:g.3860714C>T	VUS	1 lab	728706172c
2:179632820 TTN T>C	2	179632820	179632820	T	C	TTN	c.9226A>G	NM_001267550.1	NP_001254479.1:p.(Met3076Val)	NC_000002.11:g.179632820T>C	VUS	1 lab	72870d1bdf
10:97983610 BLNK G>C	10	97983610	97983610	G	C	BLNK	c.497C>G	NM_013314.3	NP_037446.1:p.(Pro166Arg)	NC_000010.10:g.97983610G>C	VUS	1 lab	7287d681f4
1:100346953 AGL T>TA	1	100346953	100346954	T	TA	AGL	c.2107_2108insA	NM_000028.2	NP_000019.2:p.(Cys703Ter)	NC_000001.10:g.100346953_100346954insA	(Likely) pathogenic	1 lab	f740a1656d
X:70607148 TAF1 T>C	X	70607148	70607148	T	C	TAF1	c.2324T>C	NM_001286074.1	NP_001273003.1:p.(Leu775Pro)	NC_000023.10:g.70607148T>C	(Likely) benign	1 lab	7288eaa2e5
X:123556388 TENM1 C>T	X	123556388	123556388	C	T	TENM1	c.4205G>A	NM_001163278.1	NP_001156750.1:p.(Arg1402His)	NC_000023.10:g.123556388C>T	VUS	1 lab	728b3f70cb
18:19423128 MIB1 C>A	18	19423128	19423128	C	A	MIB1	c.1999C>A	NM_020774.3	NP_065825.1:p.(Gln667Lys)	NC_000018.9:g.19423128C>A	VUS	1 lab	728e4cf9c2
21:44189184 PDE9A C>A	21	44189184	44189184	C	A	PDE9A	c.1509C>A	NM_002606.2	NP_002597.1:p.(Asp503Glu)	NC_000021.8:g.44189184C>A	VUS	1 lab	728f5fa950
X:16859571 TXLNG G>C	X	16859571	16859571	G	C	TXLNG	c.1269G>C	NM_018360.2	NP_060830.2:p.(Glu423Asp)	NC_000023.10:g.16859571G>C	(Likely) benign	1 lab	728fedb954
6:46660765 TDRD6 T>C	6	46660765	46660765	T	C	TDRD6	c.4900T>C	NM_001010870.2	NP_001010870.1:p.(Cys1634Arg)	NC_000006.11:g.46660765T>C	VUS	1 lab	72904cd3c4
6:133769278 EYA4 G>A	6	133769278	133769278	G	A	EYA4	c.238G>A	NM_004100.4	NP_004091.3:p.(Asp80Asn)	NC_000006.11:g.133769278G>A	VUS	1 lab	72909e304e
18:43496507 EPG5 C>T	18	43496507	43496507	C	T	EPG5	c.3280G>A	NM_020964.3	NP_066015.2:p.(Gly1094Ser)	NC_000018.9:g.43496507C>T	VUS	1 lab	729145e7af
10:122662606 WDR11 C>T	10	122662606	122662606	C	T	WDR11	c.2793C>T	NM_018117.11	NP_060587.8:p.(Val931=)	NC_000010.10:g.122662606C>T	(Likely) benign	1 lab	7292afb6bc
19:36336927 NPHS1 G>A	19	36336927	36336927	G	A	NPHS1	c.1610C>T	NM_004646.3	NP_004637.1:p.(Thr537Met)	NC_000019.9:g.36336927G>A	VUS	1 lab	7293149b96
1:158617487 SPTA1 T>C	1	158617487	158617487	T	C	SPTA1	c.3738A>G	NM_003126.3	NP_003117.2:p.(Ala1246=)	NC_000001.10:g.158617487T>C	(Likely) benign	1 lab	72933381ce
11:20673889 SLC6A5 C>T	11	20673889	20673889	C	T	SLC6A5	c.2125C>T	NM_004211.5	NP_004202.4:p.(Arg709Cys)	NC_000011.9:g.20673889C>T	VUS	1 lab	f7425bb2f3
19:44065116 XRCC1 G>A	19	44065116	44065116	G	A	XRCC1	c.201C>T	NM_006297.2	NP_006288.2:p.(Phe67=)	NC_000019.9:g.44065116G>A	(Likely) benign	1 lab	7296955854
9:35719794 TLN1 C>T	9	35719794	35719794	C	T	TLN1	c.1521G>A	NM_006289.4	NP_006280.3:p.(Gln507=)	NC_000009.11:g.35719794C>T	(Likely) benign	1 lab	7296b7dffa
8:125022919 FER1L6 T>A	8	125022919	125022919	T	A	FER1L6	c.1786T>A	NM_001039112.2	NP_001034201.2:p.(Trp596Arg)	NC_000008.10:g.125022919T>A	(Likely) benign	1 lab	7296bebb15
3:133119082 BFSP2 G>A	3	133119082	133119082	G	A	BFSP2	c.155G>A	NM_003571.3	NP_003562.1:p.(Arg52Gln)	NC_000003.11:g.133119082G>A	VUS	1 lab	72970a26cc
2:45169323 SIX3 T>C	2	45169323	45169323	T	C	SIX3	c.80T>C	NM_005413.3	NP_005404.1:p.(Ile27Thr)	NC_000002.11:g.45169323T>C	(Likely) benign	1 lab	7298c83c52
15:93588619 RGMA AG>A	15	93588619	93588624	AG	A	RGMA	c.961del	NM_020211.3	NP_064596.2:p.(Leu321SerfsTer68)	NC_000015.9:g.93588624del	VUS	1 lab	7299651942
19:38692547 SIPA1L3 G>A	19	38692547	38692547	G	A	SIPA1L3	c.5030G>A	NM_015073.2	NP_055888.1:p.(Ser1677Asn)	NC_000019.9:g.38692547G>A	VUS	1 lab	72997f919d
8:10468418 RP1L1 C>A	8	10468418	10468418	C	A	RP1L1	c.3190G>T	NM_178857.5	NP_849188.4:p.(Ala1064Ser)	NC_000008.10:g.10468418C>A	(Likely) benign	1 lab	7299bcc164
2:44547563 SLC3A1 C>A	2	44547563	44547563	C	A	SLC3A1	c.1843C>A	NM_000341.3	NP_000332.2:p.(Pro615Thr)	NC_000002.11:g.44547563C>A	VUS	1 lab	7299dce951
5:169410130 DOCK2 C>T	5	169410130	169410130	C	T	DOCK2	c.2858C>T	NM_004946.3	NP_004937.1:p.(Ser953Phe)	NC_000005.9:g.169410130C>T	(Likely) benign	1 lab	729ab4d69a
19:10334621 S1PR2 G>C	19	10334621	10334621	G	C	S1PR2	c.961C>G	NM_004230.4	NP_004221.3:p.(Pro321Ala)	NC_000019.9:g.10334621G>C	VUS	1 lab	729b91fabd
6:64431505 EYS C>T	6	64431505	64431505	C	T	EYS	c.8422G>A	NM_001142800.1	NP_001136272.1:p.(Ala2808Thr)	NC_000006.11:g.64431505C>T	VUS	1 lab	729c9022f3
X:153032930 PLXNB3 C>T	X	153032930	153032930	C	T	PLXNB3	c.717C>T	NM_001163257.1	NP_001156729.1:p.(Ser239=)	NC_000023.10:g.153032930C>T	(Likely) benign	1 lab	729c9099fc
X:140994791 MAGEC1 C>G	X	140994791	140994791	C	G	MAGEC1	c.1601C>G	NM_005462.4	NP_005453.2:p.(Pro534Arg)	NC_000023.10:g.140994791C>G	(Likely) benign	1 lab	729dd2207a
1:234743046 IRF2BP2 G>A	1	234743046	234743046	G	A	IRF2BP2	c.1601C>T	NM_182972.2	NP_892017.2:p.(Ser534Phe)	NC_000001.10:g.234743046G>A	VUS	1 lab	729e45d54e
10:134663917 CFAP46 C>T	10	134663917	134663917	C	T	CFAP46	c.5783G>A	NM_001200049.3	NP_001186978.2:p.(Arg1928Gln)	NC_000010.10:g.134663917C>T	VUS	1 lab	729e981f09
9:32630830 TAF1L C>T	9	32630830	32630830	C	T	TAF1L	c.4748G>A	NM_153809.2	NP_722516.1:p.(Ser1583Asn)	NC_000009.11:g.32630830C>T	(Likely) benign	1 lab	729f59e2c8
X:51361447 CENPVL3 C>A	X	51361447	51361447	C	A	CENPVL3	c.324G>T	NM_001355276.1	NP_001342205.1:p.(Glu108Asp)	NC_000023.10:g.51361447C>A	(Likely) benign	1 lab	729fcb9fd2
9:71789295 TJP2 G>C	9	71789295	71789295	G	C	TJP2	c.7G>C	NM_004817.4	NP_004808.2:p.(Val3Leu)	NC_000009.11:g.71789295G>C	(Likely) benign	1 lab	72a18931c9
11:77069962 PAK1 C>T	11	77069962	77069962	C	T	PAK1	c.578G>A	NM_001128620.2	NP_001122092.1:p.(Arg193His)	NC_000011.9:g.77069962C>T	VUS	1 lab	f743fe3528
4:72413417 SLC4A4 T>C	4	72413417	72413417	T	C	SLC4A4	c.2674T>C	NM_001098484.2	NP_001091954.1:p.(Phe892Leu)	NC_000004.11:g.72413417T>C	(Likely) benign	1 lab	72a29abaf6
14:102452737 DYNC1H1 T>C	14	102452737	102452737	T	C	DYNC1H1	c.2175T>C	NM_001376.4	NP_001367.2:p.(Val725=)	NC_000014.8:g.102452737T>C	(Likely) benign	1 lab	72a385c7b0
14:105420977 AHNAK2 G>A	14	105420977	105420977	G	A	AHNAK2	c.811C>T	NM_138420.3	NP_612429.2:p.(Arg271Trp)	NC_000014.8:g.105420977G>A	VUS	1 lab	72a3bae8f6
9:75369755 TMC1 C>T	9	75369755	75369755	C	T	TMC1	c.696C>T	NM_138691.2	NP_619636.2:p.(Ala232=)	NC_000009.11:g.75369755C>T	(Likely) benign	1 lab	72a40c70e6
11:62381934 ROM1 A>T	11	62381934	62381934	A	T	ROM1	c.795A>T	NM_000327.3	NP_000318.1:p.(Ala265=)	NC_000011.9:g.62381934A>T	(Likely) benign	1 lab	72a4b9664b
8:48751729 PRKDC G>A	8	48751729	48751729	G	A	PRKDC	c.7533C>T	NM_001081640.1	NP_001075109.1:p.(Ile2511=)	NC_000008.10:g.48751729G>A	(Likely) benign	1 lab	72a5360cc6
18:7037695 LAMA1 G>A	18	7037695	7037695	G	A	LAMA1	c.1619C>T	NM_005559.3	NP_005550.2:p.(Pro540Leu)	NC_000018.9:g.7037695G>A	(Likely) benign	1 lab	72a6459f12
2:163123893 IFIH1 G>A	2	163123893	163123893	G	A	IFIH1	c.2899-4C>T	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163123893G>A	(Likely) benign	1 lab	72a64cb68d
2:21238238 APOB A>T	2	21238238	21238238	A	T	APOB	c.3508+4T>A	NM_000384.2	NP_000375.2:p.?	NC_000002.11:g.21238238A>T	(Likely) benign	1 lab	72a734d3cd
11:66282077 BBS1 C>T	11	66282077	66282077	C	T	BBS1	c.360C>T	NM_024649.4	NP_078925.3:p.(Pro120=)	NC_000011.9:g.66282077C>T	(Likely) benign	1 lab	72a846456e
7:151919153 KMT2C T>A	7	151919153	151919153	T	A	KMT2C	c.3434-2A>T	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151919153T>A	VUS	1 lab	72a908ada7
1:22179534 HSPG2 C>T	1	22179534	22179534	C	T	HSPG2	c.6472G>A	NM_001291860.1	NP_001278789.1:p.(Glu2158Lys)	NC_000001.10:g.22179534C>T	(Likely) benign	1 lab	72a9ce9c84
20:47538507 ARFGEF2 C>G	20	47538507	47538507	C	G	ARFGEF2	c.81C>G	NM_006420.2	NP_006411.2:p.(Pro27=)	NC_000020.10:g.47538507C>G	(Likely) benign	1 lab	72aa0db4b4
1:161172255 NDUFS2 C>T	1	161172255	161172255	C	T	NDUFS2	c.80C>T	NM_001166159.1	NP_001159631.1:p.(Pro27Leu)	NC_000001.10:g.161172255C>T	VUS	1 lab	72abb2956f
11:2906323 CDKN1C G>A	11	2906323	2906323	G	A	CDKN1C	c.397C>T	NM_000076.2	NP_000067.1:p.(Pro133Ser)	NC_000011.9:g.2906323G>A	VUS	1 lab	72acb175d2
X:8763340 FAM9A C>T	X	8763340	8763340	C	T	FAM9A	c.610G>A	NM_001171186.1	NP_001164657.1:p.(Ala204Thr)	NC_000023.10:g.8763340C>T	(Likely) benign	1 lab	72acd391a2
17:66526473 PRKAR1A C>T	17	66526473	66526473	C	T	PRKAR1A	c.1029C>T	NM_212471.2	NP_997636.1:p.(Gly343=)	NC_000017.10:g.66526473C>T	(Likely) benign	1 lab	72ad22c577
16:77325244 ADAMTS18 T>C	16	77325244	77325244	T	C	ADAMTS18	c.3321A>G	NM_199355.3	NP_955387.1:p.(Glu1107=)	NC_000016.9:g.77325244T>C	(Likely) benign	1 lab	72ad84bf0f
X:30738985 GK C>T	X	30738985	30738985	C	T	GK	c.1374C>T	NM_001205019.1	NP_001191948.1:p.(Pro458=)	NC_000023.10:g.30738985C>T	(Likely) benign	1 lab	72ae3c5850
X:153593204 FLNA C>T	X	153593204	153593204	C	T	FLNA	c.1813G>A	NM_001110556.2	NP_001104026.1:p.(Asp605Asn)	NC_000023.10:g.153593204C>T	VUS	1 lab	72af8e2697
2:179516471 TTN C>T	2	179516471	179516471	C	T	TTN	c.39385G>A	NM_001267550.1	NP_001254479.1:p.(Val13129Ile)	NC_000002.11:g.179516471C>T	VUS	1 lab	72b061d2bc
17:29490291 NF1 G>T	17	29490291	29490291	G	T	NF1	c.376G>T	NM_000267.3	NP_000258.1:p.(Glu126Ter)	NC_000017.10:g.29490291G>T	(Likely) pathogenic	1 lab	72b08936b1
10:88439094 LDB3 G>A	10	88439094	88439094	G	A	LDB3	c.94-30G>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88439094G>A	(Likely) benign	1 lab	946779bcdf
X:153184337 ARHGAP4 G>A	X	153184337	153184337	G	A	ARHGAP4	c.1101C>T	NM_001164741.1	NP_001158213.1:p.(Thr367=)	NC_000023.10:g.153184337G>A	(Likely) benign	1 lab	72b13e913a
17:11593334 DNAH9 A>G	17	11593334	11593334	A	G	DNAH9	c.4195A>G	NM_001372.3	NP_001363.2:p.(Met1399Val)	NC_000017.10:g.11593334A>G	(Likely) benign	1 lab	72b2c70e99
X:119293240 RHOXF2 G>A	X	119293240	119293240	G	A	RHOXF2	c.399G>A	NM_032498.2	NP_115887.1:p.(Ala133=)	NC_000023.10:g.119293240G>A	(Likely) benign	1 lab	72b36ab1ab
11:77838373 ALG8 TA>T	11	77838373	77838384	TA	T	ALG8	c.174+30del	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77838384del	(Likely) benign	1 lab	f74606f3dd
7:21893978 DNAH11 G>C	7	21893978	21893978	G	C	DNAH11				NC_000007.13:g.21893978G>C	VUS	1 lab	72b8f76fb8
20:25371158 ABHD12 G>T	20	25371158	25371158	G	T	ABHD12	c.182C>A	NM_001042472.3	NP_001035937.1:p.(Ala61Glu)	NC_000020.10:g.25371158G>T	VUS	1 lab	72ba4681db
20:62321443 RTEL1 C>T	20	62321443	62321443	C	T	RTEL1	c.2145C>T	NM_001283009.1	NP_001269938.1:p.(Phe715=)	NC_000020.10:g.62321443C>T	(Likely) benign	1 lab	72ba73fb55
2:233323616 ALPI G>C	2	233323616	233323616	G	C	ALPI	c.1347G>C	NM_001631.5	NP_001622.2:p.(Glu449Asp)	NC_000002.11:g.233323616G>C	VUS	1 lab	f7468695ad
1:35251141 GJB3 C>T	1	35251141	35251141	C	T	GJB3	c.778C>T	NM_024009.2	NP_076872.1:p.(Leu260=)	NC_000001.10:g.35251141C>T	(Likely) benign	1 lab	72bcec89fa
6:43582014 POLH C>T	6	43582014	43582014	C	T	POLH	c.1862C>T	NM_006502.2	NP_006493.1:p.(Thr621Ile)	NC_000006.11:g.43582014C>T	(Likely) benign	1 lab	72bd197ebc
2:204820588 ICOS A>C	2	204820588	204820588	A	C	ICOS	c.288A>C	NM_012092.3	NP_036224.1:p.(Leu96=)	NC_000002.11:g.204820588A>C	(Likely) benign	1 lab	72be95abc9
X:47776008 ZNF81 A>G	X	47776008	47776008	A	G	ZNF81	c.1963A>G	NM_007137.3	NP_009068.2:p.(Met655Val)	NC_000023.10:g.47776008A>G	(Likely) benign	1 lab	72bf9786fa
2:120903828 EPB41L5 C>T	2	120903828	120903828	C	T	EPB41L5	c.1756C>T	NM_020909.4	NP_065960.2:p.(His586Tyr)	NC_000002.11:g.120903828C>T	(Likely) benign	1 lab	72bff0489f
15:57525054 TCF12 G>T	15	57525054	57525054	G	T	TCF12	c.970G>T	NM_207037.1	NP_996920.1:p.(Gly324Ter)	NC_000015.9:g.57525054G>T	(Likely) pathogenic	1 lab	72c2592bdc
1:27695744 FCN3 G>A	1	27695744	27695744	G	A	FCN3	c.883C>T	NM_003665.2	NP_003656.2:p.(Arg295Trp)	NC_000001.10:g.27695744G>A	VUS	1 lab	72c406bf34
16:4852544 ROGDI G>A	16	4852544	4852544	G	A	ROGDI	c.29C>T	NM_024589.3	NP_078865.1:p.(Ala10Val)	NC_000016.9:g.4852544G>A	VUS	1 lab	f746b2a2bd
12:88500448 CEP290 G>A	12	88500448	88500448	G	A	CEP290	c.2817+4C>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88500448G>A	(Likely) benign	1 lab	72c7003e10
9:133928278 LAMC3 C>G	9	133928278	133928278	C	G	LAMC3	c.1865C>G	NM_006059.3	NP_006050.3:p.(Pro622Arg)	NC_000009.11:g.133928278C>G	VUS	1 lab	72caafcc5b
7:21641126 DNAH11 A>G	7	21641126	21641126	A	G	DNAH11				NC_000007.13:g.21641126A>G	VUS	1 lab	72cd7859c3
20:62059790 KCNQ2 T>TGG	20	62059790	62059794	T	TGG	KCNQ2	c.1149-4_1149-3dup	NM_172107.3	NP_742105.1:p.?	NC_000020.10:g.62059793_62059794dup	VUS	1 lab	72cd9a928f
1:27440490 SLC9A1 C>T	1	27440490	27440490	C	T	SLC9A1	c.640G>A	NM_003047.4	NP_003038.2:p.(Val214Met)	NC_000001.10:g.27440490C>T	(Likely) benign	1 lab	72cf6a8150
X:13778604 OFD1 G>T	X	13778604	13778604	G	T	OFD1	c.1605G>T	NM_001330210.1	NP_001317139.1:p.(Leu535Phe)	NC_000023.10:g.13778604G>T	(Likely) benign	1 lab	72d16c8fdb
17:44071317 MAPT C>A	17	44071317	44071317	C	A	MAPT	c.1535C>A	NM_001123066.3	NP_001116538.2:p.(Pro512His)	NC_000017.10:g.44071317C>A	(Likely) benign	1 lab	72d1d9c6e3
3:193353232 OPA1 G>A	3	193353232	193353232	G	A	OPA1	c.869G>A	NM_130837.2	NP_570850.2:p.(Arg290Gln)	NC_000003.11:g.193353232G>A	VUS	1 lab	72d22fe22a
16:56901137 SLC12A3 G>A	16	56901137	56901137	G	A	SLC12A3	c.429+9G>A	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56901137G>A	(Likely) benign	1 lab	72d4baebfa
19:7606904 PNPLA6 C>A	19	7606904	7606904	C	A	PNPLA6	c.1230C>A	NM_001166111.1	NP_001159583.1:p.(Pro410=)	NC_000019.9:g.7606904C>A	(Likely) benign	1 lab	72d5b37f01
17:18025473 MYO15A G>A	17	18025473	18025473	G	A	MYO15A	c.3359G>A	NM_016239.3	NP_057323.3:p.(Arg1120His)	NC_000017.10:g.18025473G>A	(Likely) benign	1 lab	72d5c0fcf4
9:133738152 ABL1 C>T	9	133738152	133738152	C	T	ABL1	c.609C>T	NM_007313.2	NP_009297.2:p.(Leu203=)	NC_000009.11:g.133738152C>T	(Likely) benign	1 lab	72d5cd1c9d
16:2115632 TSC2 T>C	16	2115632	2115632	T	C	TSC2	c.1712T>C	NM_000548.3	NP_000539.2:p.(Leu571Pro)	NC_000016.9:g.2115632T>C	(Likely) pathogenic	1 lab	72d7e2cdad
14:105414119 AHNAK2 G>A	14	105414119	105414119	G	A	AHNAK2	c.7669C>T	NM_138420.3	NP_612429.2:p.(Pro2557Ser)	NC_000014.8:g.105414119G>A	(Likely) benign	1 lab	72d98226fd
1:228452028 OBSCN G>A	1	228452028	228452028	G	A	OBSCN	c.5349G>A	NM_001271223.2	NP_001258152.2:p.(Ala1783=)	NC_000001.10:g.228452028G>A	(Likely) benign	1 lab	72daa62c8f
2:179635246 TTN T>C	2	179635246	179635246	T	C	TTN	c.8273A>G	NM_001267550.1	NP_001254479.1:p.(Lys2758Arg)	NC_000002.11:g.179635246T>C	VUS	1 lab	72dae9a5ff
1:216172358 USH2A A>G	1	216172358	216172358	A	G	USH2A	c.6528T>C	NM_206933.2	NP_996816.2:p.(Tyr2176=)	NC_000001.10:g.216172358A>G	(Likely) benign	1 lab	72db68c687
1:27087917 ARID1A G>A	1	27087917	27087917	G	A	ARID1A	c.2204G>A	NM_006015.6	NP_006006.3:p.(Ser735Asn)	NC_000001.10:g.27087917G>A	(Likely) benign	1 lab	f75b855082
16:2161375 PKD1 G>A	16	2161375	2161375	G	A	PKD1	c.3793C>T	NM_001009944.2	NP_001009944.2:p.(Leu1265=)	NC_000016.9:g.2161375G>A	(Likely) benign	1 lab	72dcb22251
9:135781255 TSC1 CCT>C	9	135781255	135781257	CCT	C	TSC1	c.1708_1709del	NM_000368.5	NP_000359.1:p.(Arg570GlyfsTer17)	NC_000009.11:g.135781256_135781257del	(Likely) pathogenic	1 lab	72deeccb40
2:135891623 RAB3GAP1 A>G	2	135891623	135891623	A	G	RAB3GAP1	c.1499+20A>G	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135891623A>G	(Likely) benign	1 lab	72e167d0db
9:135802607 TSC1 A>C	9	135802607	135802607	A	C	TSC1	c.191T>G	NM_000368.4	NP_000359.1:p.(Leu64Trp)	NC_000009.11:g.135802607A>C	(Likely) pathogenic	1 lab	72e2525879
10:68280365 CTNNA3 A>C	10	68280365	68280365	A	C	CTNNA3	c.1531+10T>G	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.68280365A>C	(Likely) benign	1 lab	72e2b92485
11:118344431 KMT2A A>G	11	118344431	118344431	A	G	KMT2A	c.2557A>G	NM_001197104.1	NP_001184033.1:p.(Lys853Glu)	NC_000011.9:g.118344431A>G	(Likely) benign	1 lab	72e2cbb036
2:73800450 ALMS1 C>T	2	73800450	73800450	C	T	ALMS1	c.11449C>T	NM_015120.4	NP_055935.4:p.(Gln3817Ter)	NC_000002.11:g.73800450C>T	(Likely) pathogenic	1 lab	72e4eb228a
X:70342356 MED12 A>C	X	70342356	70342356	A	C	MED12	c.1249-2A>C	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70342356A>C	(Likely) pathogenic	1 lab	72e509e956
2:71783144 DYSF C>T	2	71783144	71783144	C	T	DYSF	c.2156C>T	NM_001130981.1	NP_001124453.1:p.(Thr719Met)	NC_000002.11:g.71783144C>T	(Likely) benign	1 lab	72e57b59c2
18:77246538 NFATC1 G>A	18	77246538	77246538	G	A	NFATC1	c.2383G>A	NM_001278669.1	NP_001265598.1:p.(Gly795Arg)	NC_000018.9:g.77246538G>A	(Likely) benign	1 lab	72e6378a51
X:69479141 P2RY4 G>A	X	69479141	69479141	G	A	P2RY4	c.334C>T	NM_002565.3	NP_002556.1:p.(Arg112Cys)	NC_000023.10:g.69479141G>A	VUS	1 lab	72e70dc9f7
2:231050764 SP110 T>A	2	231050764	231050764	T	A	SP110	c.1225A>T	NM_080424.2	NP_536349.2:p.(Met409Leu)	NC_000002.11:g.231050764T>A	VUS	1 lab	72e7ac38e2
15:67457685 SMAD3 C>A	15	67457685	67457685	C	A	SMAD3	c.495C>A	NM_005902.3	NP_005893.1:p.(Asn165Lys)	NC_000015.9:g.67457685C>A	(Likely) benign	1 lab	72eac38d2e
19:38800094 YIF1B GC>G	19	38800094	38800096	GC	G	YIF1B	c.247del	NM_001039672.3	NP_001034761.1:p.(Ala83ProfsTer115)	NC_000019.9:g.38800096del	VUS	1 lab	72eaf90802
11:120984351 TECTA C>T	11	120984351	120984351	C	T	TECTA	c.714C>T	NM_005422.2	NP_005413.2:p.(Asn238=)	NC_000011.9:g.120984351C>T	(Likely) benign	1 lab	72ece97360
3:101484335 CEP97 G>A	3	101484335	101484335	G	A	CEP97	c.2538G>A	NM_024548.4	NP_078824.2:p.(Gln846=)	NC_000003.11:g.101484335G>A	(Likely) benign	1 lab	72ed031828
2:242350517 FARP2 G>A	2	242350517	242350517	G	A	FARP2	c.480G>A	NM_014808.4	NP_055623.1:p.(Ala160=)	NC_000002.11:g.242350517G>A	(Likely) benign	1 lab	72ee145284
17:39925443 JUP G>A	17	39925443	39925443	G	A	JUP	c.485C>T	NM_021991.2	NP_068831.1:p.(Ala162Val)	NC_000017.10:g.39925443G>A	VUS	1 lab	72ef447470
X:100744477 ARMCX4 A>G	X	100744477	100744477	A	G	ARMCX4	c.901A>G	NM_001256155.2	NP_001243084.2:p.(Met301Val)	NC_000023.10:g.100744477A>G	(Likely) benign	1 lab	72f0583a48
2:189909952 COL5A2 G>A	2	189909952	189909952	G	A	COL5A2	c.3316C>T	NM_000393.4	NP_000384.2:p.(Arg1106Trp)	NC_000002.11:g.189909952G>A	VUS	1 lab	72f0cd9f6c
2:179470362 TTN C>T	2	179470362	179470362	C	T	TTN	c.53660G>A	NM_001267550.1	NP_001254479.1:p.(Arg17887His)	NC_000002.11:g.179470362C>T	VUS	1 lab	72f0ddbe06
X:135730439 CD40LG G>A	X	135730439	135730439	G	A	CD40LG	c.32G>A	NM_000074.2	NP_000065.1:p.(Arg11Gln)	NC_000023.10:g.135730439G>A	(Likely) benign	1 lab	72f122d613
11:17632675 OTOG C>T	11	17632675	17632675	C	T	OTOG	c.5864C>T	NM_001277269.1	NP_001264198.1:p.(Thr1955Met)	NC_000011.9:g.17632675C>T	(Likely) benign	1 lab	72f1863323
X:152818528 ATP2B3 G>A	X	152818528	152818528	G	A	ATP2B3	c.1859G>A	NM_021949.3	NP_068768.2:p.(Arg620Gln)	NC_000023.10:g.152818528G>A	VUS	1 lab	72f3a54bdc
7:128484813 FLNC C>T	7	128484813	128484813	C	T	FLNC	c.3294C>T	NM_001458.4	NP_001449.3:p.(Thr1098=)	NC_000007.13:g.128484813C>T	(Likely) benign	1 lab	72f499bb64
1:151339278 SELENBP1 C>T	1	151339278	151339278	C	T	SELENBP1	c.710G>A	NM_001258289.1	NP_001245218.1:p.(Arg237Gln)	NC_000001.10:g.151339278C>T	VUS	1 lab	72f4b99527
X:41334093 NYX G>A	X	41334093	41334093	G	A	NYX	c.1387G>A	NM_022567.2	NP_072089.1:p.(Ala463Thr)	NC_000023.10:g.41334093G>A	(Likely) benign	1 lab	72f635e1bc
18:2951290 LPIN2 A>G	18	2951290	2951290	A	G	LPIN2	c.353T>C	NM_014646.2	NP_055461.1:p.(Ile118Thr)	NC_000018.9:g.2951290A>G	(Likely) benign	1 lab	72f74b5969
13:25480427 CPAP T>G	13	25480427	25480427	T	G	CPAP	c.1749A>C	NM_018451.4	NP_060921.3:p.(Gln583His)	NC_000013.10:g.25480427T>G	VUS	1 lab	72f9d0f3a5
12:108954849 SART3 C>T	12	108954849	108954849	C	T	SART3	c.82G>A	NM_014706.4	NP_055521.1:p.(Glu28Lys)	NC_000012.11:g.108954849C>T	VUS	1 lab	f75d8f7ce9
15:23891666 MAGEL2 G>A	15	23891666	23891666	G	A	MAGEL2	c.1224C>T	NM_019066.4	NP_061939.3:p.(Pro408=)	NC_000015.9:g.23891666G>A	(Likely) benign	1 lab	72fb3e4b33
19:1398932 GAMT T>G	19	1398932	1398932	T	G	GAMT	c.553A>C	NM_138924.2	NP_620279.1:p.(Ile185Leu)	NC_000019.9:g.1398932T>G	VUS	1 lab	72fb5c5f72
10:17277894 VIM C>T	10	17277894	17277894	C	T	VIM	c.1273+6C>T	NM_003380.4	NP_003371.2:p.?	NC_000010.10:g.17277894C>T	(Likely) benign	1 lab	72fb96a948
6:157522450 ARID1B TC>T	6	157522450	157522451	TC	T	ARID1B	c.4972del	NM_001371656.1	NP_001358585.1:p.(Leu1658CysfsTer4)	NC_000006.11:g.157522451del	(Likely) pathogenic	1 lab	f76b431bdc
8:61734218 CHD7 CAT>C	8	61734218	61734226	CAT	C	CHD7	c.2698-124_2698-123del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61734225_61734226del	(Likely) benign	1 lab	72ff47e075
18:6964785 LAMA1 C>T	18	6964785	6964785	C	T	LAMA1	c.7213G>A	NM_005559.3	NP_005550.2:p.(Asp2405Asn)	NC_000018.9:g.6964785C>T	(Likely) benign	1 lab	72ff912b5a
6:16326975 ATXN1 C>T	6	16326975	16326975	C	T	ATXN1	c.1567G>A	NM_000332.3	NP_000323.2:p.(Val523Ile)	NC_000006.11:g.16326975C>T	VUS	1 lab	73005fefce
19:41928624 BCKDHA G>A	19	41928624	41928624	G	A	BCKDHA	c.944G>A	NM_000709.3	NP_000700.1:p.(Arg315Gln)	NC_000019.9:g.41928624G>A	VUS	1 lab	730116c261
7:128517783 KCP C>T	7	128517783	128517783	C	T	KCP	c.4373G>A	NM_001366122.1	NP_001353051.1:p.(Arg1458Gln)	NC_000007.13:g.128517783C>T	(Likely) benign	1 lab	7301905ef8
12:52844260 KRT6B C>T	12	52844260	52844260	C	T	KRT6B	c.685G>A	NM_005555.3	NP_005546.2:p.(Val229Met)	NC_000012.11:g.52844260C>T	(Likely) benign	1 lab	7303a01eb7
1:5965440 NPHP4 T>C	1	5965440	5965440	T	C	NPHP4	c.1867A>G	NM_015102.4	NP_055917.1:p.(Thr623Ala)	NC_000001.10:g.5965440T>C	(Likely) benign	1 lab	73059cb040
1:120539884 NOTCH2 C>T	1	120539884	120539884	C	T	NOTCH2	c.487G>A	NM_024408.3	NP_077719.2:p.(Ala163Thr)	NC_000001.10:g.120539884C>T	(Likely) benign	1 lab	73065a922c
12:52964504 KRT74 C>G	12	52964504	52964504	C	G	KRT74	c.957G>C	NM_175053.3	NP_778223.2:p.(Glu319Asp)	NC_000012.11:g.52964504C>G	VUS	1 lab	7307c17e83
1:220363415 RAB3GAP2 G>T	1	220363415	220363415	G	T	RAB3GAP2	c.1705C>A	NM_012414.3	NP_036546.2:p.(Pro569Thr)	NC_000001.10:g.220363415G>T	(Likely) benign	1 lab	730b4a19ff
2:135848672 RAB3GAP1 TAAAG>T	2	135848672	135848678	TAAAG	T	RAB3GAP1	c.258_261del	NM_012233.3	NP_036365.1:p.(Gly88ArgfsTer5)	NC_000002.11:g.135848675_135848678del	(Likely) pathogenic	1 lab	730b4dcb35
13:20220588 MPHOSPH8 A>G	13	20220588	20220588	A	G	MPHOSPH8	c.375A>G	NM_017520.4	NP_059990.2:p.(Leu125=)	NC_000013.10:g.20220588A>G	(Likely) benign	1 lab	730b994c6e
18:74580747 ZNF236 G>A	18	74580747	74580747	G	A	ZNF236	c.464G>A	NM_007345.3	NP_031371.3:p.(Cys155Tyr)	NC_000018.9:g.74580747G>A	VUS	1 lab	730f35df6b
X:45011039 DIPK2B A>G	X	45011039	45011039	A	G	DIPK2B	c.1160T>C	NM_176819.4	NP_789789.2:p.(Val387Ala)	NC_000023.10:g.45011039A>G	(Likely) benign	1 lab	731118e8be
19:54401291 PRKCG G>T	19	54401291	54401291	G	T	PRKCG	c.1018G>T	NM_002739.3	NP_002730.1:p.(Gly340Trp)	NC_000019.9:g.54401291G>T	VUS	1 lab	731253ec32
7:92734749 SAMD9 C>T	7	92734749	92734749	C	T	SAMD9	c.662G>A	NM_017654.3	NP_060124.2:p.(Arg221Gln)	NC_000007.13:g.92734749C>T	(Likely) benign	1 lab	73130de47a
6:86227734 SNX14 T>C	6	86227734	86227734	T	C	SNX14	c.2140A>G	NM_153816.5	NP_722523.1:p.(Met714Val)	NC_000006.11:g.86227734T>C	(Likely) benign	1 lab	7313fc3745
16:89619493 SPG7 C>G	16	89619493	89619493	C	G	SPG7	c.1886C>G	NM_003119.3	NP_003110.1:p.(Ala629Gly)	NC_000016.9:g.89619493C>G	(Likely) benign	1 lab	73178ecc52
1:45479420 UROD G>C	1	45479420	45479420	G	C	UROD	c.431G>C	NM_000374.5	NP_000365.3:p.(Arg144Pro)	NC_000001.10:g.45479420G>C	VUS	1 lab	7319818e02
11:72119231 CLPB C>A	11	72119231	72119231	C	A	CLPB	c.231G>T	NM_001258394.2	NP_001245323.1:p.(Lys77Asn)	NC_000011.9:g.72119231C>A	VUS	1 lab	731b2a6b34
22:31008993 TCN2 C>T	22	31008993	31008993	C	T	TCN2				NC_000022.10:g.31008993C>T	VUS	1 lab	731ba5e93b
13:32953463 BRCA2 A>G	13	32953463	32953463	A	G	BRCA2	c.8764A>G	NM_000059.3	NP_000050.2:p.(Ser2922Gly)	NC_000013.10:g.32953463A>G	VUS	1 lab	731d3a303a
13:52536042 ATP7B C>G	13	52536042	52536042	C	G	ATP7B	c.1877G>C	NM_000053.3	NP_000044.2:p.(Gly626Ala)	NC_000013.10:g.52536042C>G	VUS	1 lab	731db954d8
1:11090823 MASP2 T>C	1	11090823	11090823	T	C	MASP2	c.1204A>G	NM_006610.3	NP_006601.2:p.(Thr402Ala)	NC_000001.10:g.11090823T>C	(Likely) benign	1 lab	731ea72646
3:38156497 DLEC1 G>A	3	38156497	38156497	G	A	DLEC1	c.3818G>A	NM_001321153.1	NP_001308082.1:p.(Gly1273Glu)	NC_000003.11:g.38156497G>A	VUS	1 lab	731f7fc9a8
16:23647053 PALB2 C>T	16	23647053	23647053	C	T	PALB2	c.814G>A	NM_024675.4	NP_078951.2:p.(Glu272Lys)	NC_000016.9:g.23647053C>T	(Likely) benign	1 lab	f770b64909
19:9084221 MUC16 G>T	19	9084221	9084221	G	T	MUC16	c.7594C>A	NM_024690.2	NP_078966.2:p.(Leu2532Ile)	NC_000019.9:g.9084221G>T	(Likely) benign	1 lab	7326b4f021
7:103061175 SLC26A5 A>ATC	7	103061175	103061178	A	ATC	SLC26A5	c.292+8_292+9dup	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103061177_103061178dup	(Likely) benign	1 lab	7327358153
X:13778388 OFD1 G>T	X	13778388	13778388	G	T	OFD1	c.1389G>T	NM_001330210.1	NP_001317139.1:p.(Met463Ile)	NC_000023.10:g.13778388G>T	(Likely) benign	1 lab	732b366ca5
12:1910809 CACNA2D4 G>A	12	1910809	1910809	G	A	CACNA2D4	c.2723C>T	NM_172364.4	NP_758952.4:p.(Thr908Met)	NC_000012.11:g.1910809G>A	(Likely) benign	1 lab	732bf2893b
9:131760890 NUP188 G>A	9	131760890	131760890	G	A	NUP188	c.3503G>A	NM_015354.3	NP_056169.1:p.(Arg1168Gln)	NC_000009.11:g.131760890G>A	VUS	1 lab	f7770a6a2b
X:65423305 HEPH G>A	X	65423305	65423305	G	A	HEPH				NC_000023.10:g.65423305G>A	(Likely) benign	1 lab	771d75aa56
8:67976686 CSPP1 C>T	8	67976686	67976686	C	T	CSPP1	c.53C>T	NM_024790.6	NP_079066.5:p.(Pro18Leu)	NC_000008.10:g.67976686C>T	VUS	1 lab	732c764e55
8:61757872 CHD7 C>T	8	61757872	61757872	C	T	CHD7				NC_000008.10:g.61757872C>T	VUS	1 lab	732cdb2dff
11:21556033 NELL1 T>C	11	21556033	21556033	T	C	NELL1	c.1843T>C	NM_001288713.1	NP_001275642.1:p.(Tyr615His)	NC_000011.9:g.21556033T>C	VUS	1 lab	732daed655
6:72952093 RIMS1 A>G	6	72952093	72952093	A	G	RIMS1	c.2034A>G	NM_014989.5	NP_055804.2:p.(Glu678=)	NC_000006.11:g.72952093A>G	(Likely) benign	1 lab	732f06e343
19:58213604 ZNF154 A>C	19	58213604	58213604	A	C	ZNF154	c.713T>G	NM_001085384.2	NP_001078853.1:p.(Val238Gly)	NC_000019.9:g.58213604A>C	VUS	1 lab	732f977a00
10:123324013 FGFR2 T>C	10	123324013	123324013	T	C	FGFR2	c.454+3A>G	NM_022970.3	NP_075259.4:p.?	NC_000010.10:g.123324013T>C	(Likely) benign	1 lab	732ff9e812
6:33246250 B3GALT4 G>A	6	33246250	33246250	G	A	B3GALT4	c.1054G>A	NM_003782.3	NP_003773.1:p.(Glu352Lys)	NC_000006.11:g.33246250G>A	VUS	1 lab	7330b3cc14
6:32813531 TAP1 C>G	6	32813531	32813531	C	G	TAP1	c.2252G>C	NM_000593.5	NP_000584.2:p.(Arg751Pro)	NC_000006.11:g.32813531C>G	VUS	1 lab	7332cd4b91
4:84191038 COQ2 A>G	4	84191038	84191038	A	G	COQ2	c.887T>C	NM_015697.8	NP_056512.5:p.(Ile296Thr)	NC_000004.11:g.84191038A>G	(Likely) benign	1 lab	7332fbbbfb
1:151214643 PIP5K1A T>C	1	151214643	151214643	T	C	PIP5K1A	c.1408T>C	NM_001135638.2	NP_001129110.1:p.(Ser470Pro)	NC_000001.10:g.151214643T>C	VUS	1 lab	733320daf7
14:60976514 SIX6 A>C	14	60976514	60976514	A	C	SIX6	c.398A>C	NM_007374.2	NP_031400.2:p.(His133Pro)	NC_000014.8:g.60976514A>C	VUS	1 lab	73334460c8
1:183086700 LAMC1 T>C	1	183086700	183086700	T	C	LAMC1	c.1719T>C	NM_002293.3	NP_002284.3:p.(Tyr573=)	NC_000001.10:g.183086700T>C	(Likely) benign	1 lab	7334006029
1:220445571 RAB3GAP2 C>T	1	220445571	220445571	C	T	RAB3GAP2	c.109G>A	NM_012414.3	NP_036546.2:p.(Asp37Asn)	NC_000001.10:g.220445571C>T	(Likely) benign	1 lab	7334c265aa
5:110439588 WDR36 G>C	5	110439588	110439588	G	C	WDR36	c.869G>C	NM_139281.2	NP_644810.1:p.(Gly290Ala)	NC_000005.9:g.110439588G>C	VUS	1 lab	73389f2024
1:120611830 NOTCH2 G>A	1	120611830	120611830	G	A	NOTCH2	c.73+118C>T	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611830G>A	(Likely) benign	1 lab	f781d3f16e
1:7725155 CAMTA1 G>A	1	7725155	7725155	G	A	CAMTA1	c.2548G>A	NM_015215.4	NP_056030.1:p.(Glu850Lys)	NC_000001.10:g.7725155G>A	(Likely) benign	1 lab	f78636eaf3
17:29508727 NF1 G>C	17	29508727	29508727	G	C	NF1	c.655-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508727G>C	(Likely) pathogenic	1 lab	733c195690
3:48627032 COL7A1 C>T	3	48627032	48627032	C	T	COL7A1	c.2170G>A	NM_000094.3	NP_000085.1:p.(Gly724Ser)	NC_000003.11:g.48627032C>T	VUS	1 lab	733c3b3cad
X:51076000 NUDT10 G>A	X	51076000	51076000	G	A	NUDT10	c.183G>A	NM_153183.3	NP_694853.1:p.(Ala61=)	NC_000023.10:g.51076000G>A	(Likely) benign	1 lab	733ce044bf
16:88498951 ZNF469 C>T	16	88498951	88498951	C	T	ZNF469				NC_000016.9:g.88498951C>T	(Likely) benign	1 lab	733d305ba2
8:144998464 PLEC C>T	8	144998464	144998464	C	T	PLEC	c.6044G>A	NM_201380.3	NP_958782.1:p.(Arg2015Gln)	NC_000008.10:g.144998464C>T	(Likely) benign	1 lab	733eda110e
X:91133158 PCDH11X C>A	X	91133158	91133158	C	A	PCDH11X	c.1919C>A	NM_032968.4	NP_116750.1:p.(Thr640Asn)	NC_000023.10:g.91133158C>A	VUS	1 lab	733f98fb99
1:3348552 PRDM16 G>A	1	3348552	3348552	G	A	PRDM16	c.3544G>A	NM_022114.3	NP_071397.3:p.(Gly1182Ser)	NC_000001.10:g.3348552G>A	VUS	1 lab	734493e3a9
7:151884369 KMT2C G>C	7	151884369	151884369	G	C	KMT2C	c.4986C>G	NM_170606.2	NP_733751.2:p.(Pro1662=)	NC_000007.13:g.151884369G>C	(Likely) benign	1 lab	7344cab434
8:41551521 ANK1 G>A	8	41551521	41551521	G	A	ANK1	c.3550C>T	NM_001142446.1	NP_001135918.1:p.(Arg1184Cys)	NC_000008.10:g.41551521G>A	VUS	1 lab	7345f04275
16:69726554 NFAT5 A>G	16	69726554	69726554	A	G	NFAT5	c.2544A>G	NM_138714.3	NP_619728.2:p.(Gly848=)	NC_000016.9:g.69726554A>G	(Likely) benign	1 lab	73462f4f1d
X:54955800 TRO T>G	X	54955800	54955800	T	G	TRO	c.2643T>G	NM_001039705.2	NP_001034794.1:p.(Ser881Arg)	NC_000023.10:g.54955800T>G	(Likely) benign	1 lab	7347168c6b
8:145623002 CPSF1 C>G	8	145623002	145623002	C	G	CPSF1	c.2166G>C	NM_013291.3	NP_037423.2:p.(Gly722=)	NC_000008.10:g.145623002C>G	VUS	1 lab	7348633c7e
21:47565385 FTCD C>T	21	47565385	47565385	C	T	FTCD	c.1206G>A	NM_001320412.1	NP_001307341.1:p.(Ser402=)	NC_000021.8:g.47565385C>T	(Likely) benign	1 lab	7349bb7487
20:2641132 IDH3B C>T	20	2641132	2641132	C	T	IDH3B	c.636G>A	NM_006899.4	NP_008830.2:p.(Lys212=)	NC_000020.10:g.2641132C>T	(Likely) benign	1 lab	734a98cd6c
1:1573181 MISSING C>G	1	1573181	1573181	C	G	MISSING				NC_000001.10:g.1573181C>G	(Likely) benign	1 lab	734d81a49b
13:50134144 RCBTB1 G>A	13	50134144	50134144	G	A	RCBTB1	c.354C>T	NM_001352500.1	NP_001339429.1:p.(Pro118=)	NC_000013.10:g.50134144G>A	(Likely) benign	1 lab	734db6583a
1:24123647 GALE G>A	1	24123647	24123647	G	A	GALE	c.529-10C>T	NM_000403.3	NP_000394.2:p.?	NC_000001.10:g.24123647G>A	(Likely) benign	1 lab	734eaa9563
10:13698923 FRMD4A TCGC>T	10	13698923	13698938	TCGC	T	FRMD4A	c.2663_2665del	NM_018027.5	NP_060497.3:p.(Gly888del)	NC_000010.10:g.13698936_13698938del	VUS	1 lab	734ed2b5fd
4:88534107 DSPP G>A	4	88534107	88534107	G	A	DSPP	c.769G>A	NM_014208.3	NP_055023.2:p.(Glu257Lys)	NC_000004.11:g.88534107G>A	(Likely) benign	1 lab	7350cbc906
19:41928167 BCKDHA G>A	19	41928167	41928167	G	A	BCKDHA	c.745G>A	NM_000709.3	NP_000700.1:p.(Gly249Ser)	NC_000019.9:g.41928167G>A	VUS	1 lab	7351536401
6:94129020 EPHA7 A>C	6	94129020	94129020	A	C	EPHA7	c.40T>G	NM_004440.4	NP_004431.1:p.(Cys14Gly)	NC_000006.11:g.94129020A>C	VUS	1 lab	f7884cc7f5
X:119388178 ZBTB33 C>T	X	119388178	119388178	C	T	ZBTB33	c.908C>T	NM_001184742.2	NP_001171671.1:p.(Pro303Leu)	NC_000023.10:g.119388178C>T	(Likely) benign	1 lab	7353997560
11:118530495 TREH A>G	11	118530495	118530495	A	G	TREH	c.1281T>C	NM_007180.2	NP_009111.2:p.(Ser427=)	NC_000011.9:g.118530495A>G	(Likely) benign	1 lab	7353ddbcfe
18:31324054 ASXL3 A>C	18	31324054	31324054	A	C	ASXL3	c.4242A>C	NM_030632.2	NP_085135.1:p.(Ala1414=)	NC_000018.9:g.31324054A>C	(Likely) benign	1 lab	735413524a
13:113729304 MISSING G>C	13	113729304	113729304	G	C	MISSING				NC_000013.10:g.113729304G>C	(Likely) benign	1 lab	7355a98703
X:13061071 FAM9C G>T	X	13061071	13061071	G	T	FAM9C	c.183-3C>A	NM_174901.5	NP_777561.1:p.?	NC_000023.10:g.13061071G>T	VUS	1 lab	99cd0cfaf9
X:17394032 NHS C>T	X	17394032	17394032	C	T	NHS	c.152C>T	NM_001291867.1	NP_001278796.1:p.(Ala51Val)	NC_000023.10:g.17394032C>T	VUS	1 lab	7356b45d39
1:241680489 FH C>T	1	241680489	241680489	C	T	FH	c.260G>A	NM_000143.3	NP_000134.2:p.(Arg87His)	NC_000001.10:g.241680489C>T	VUS	1 lab	735724bbb7
6:56480720 DST C>CT	6	56480720	56480721	C	CT	DST	c.7544dup	NM_001723.5	NP_001714.1:p.(Gln2516AlafsTer6)	NC_000006.11:g.56480721dup	VUS	1 lab	73572fc7cc
17:34854947 MYO19 A>G	17	34854947	34854947	A	G	MYO19	c.2435T>C	NM_001163735.1	NP_001157207.1:p.(Val812Ala)	NC_000017.10:g.34854947A>G	(Likely) benign	1 lab	73575d073b
10:73544755 CDH23 C>T	10	73544755	73544755	C	T	CDH23	c.5610C>T	NM_022124.5	NP_071407.4:p.(Val1870=)	NC_000010.10:g.73544755C>T	(Likely) benign	1 lab	7357a84410
6:32820967 TAP1 G>A	6	32820967	32820967	G	A	TAP1	c.627C>T	NM_000593.5	NP_000584.2:p.(Pro209=)	NC_000006.11:g.32820967G>A	(Likely) benign	1 lab	735b07d291
3:186938055 MASP1 T>G	3	186938055	186938055	T	G	MASP1	c.1910-6A>C	NM_001879.5	NP_001870.3:p.?	NC_000003.11:g.186938055T>G	(Likely) benign	1 lab	735d14d68e
6:117650501 ROS1 A>G	6	117650501	117650501	A	G	ROS1	c.5357T>C	NM_002944.2	NP_002935.2:p.(Leu1786Pro)	NC_000006.11:g.117650501A>G	VUS	1 lab	7361e7fe0e
16:2113055 TSC2 G>T	16	2113055	2113055	G	T	TSC2	c.1443+1G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2113055G>T	(Likely) pathogenic	1 lab	7361ebf96d
16:85689987 GSE1 G>A	16	85689987	85689987	G	A	GSE1	c.1028G>A	NM_014615.4	NP_055430.1:p.(Arg343His)	NC_000016.9:g.85689987G>A	(Likely) benign	1 lab	73621101a4
6:88299651 RARS2 T>C	6	88299651	88299651	T	C	RARS2	c.25A>G	NM_020320.4	NP_064716.2:p.(Ile9Val)	NC_000006.11:g.88299651T>C	VUS	1 lab	7362df2ddc
11:76901849 MYO7A G>A	11	76901849	76901849	G	A	MYO7A	c.3858G>A	NM_000260.3	NP_000251.3:p.(Ala1286=)	NC_000011.9:g.76901849G>A	(Likely) benign	1 lab	73631ea0d3
16:2108824 TSC2 CT>C	16	2108824	2108825	CT	C	TSC2	c.926del	NM_000548.5	NP_000539.2:p.(Leu309ProfsTer54)	NC_000016.9:g.2108825del	(Likely) pathogenic	1 lab	73634b91e7
1:3348639 PRDM16 G>A	1	3348639	3348639	G	A	PRDM16	c.3631G>A	NM_022114.3	NP_071397.3:p.(Val1211Met)	NC_000001.10:g.3348639G>A	VUS	1 lab	7363f1df68
4:6303029 WFS1 G>A	4	6303029	6303029	G	A	WFS1	c.1507G>A	NM_006005.3	NP_005996.2:p.(Val503Ile)	NC_000004.11:g.6303029G>A	VUS	1 lab	736521c21b
7:1512019 INTS1 T>C	7	1512019	1512019	T	C	INTS1	c.6074A>G	NM_001080453.3	NP_001073922.2:p.(Glu2025Gly)	NC_000007.13:g.1512019T>C	VUS	1 lab	7365468bd7
Y:14837101 USP9Y A>G	Y	14837101	14837101	A	G	USP9Y	c.381A>G	NM_004654.3	NP_004645.2:p.(Ile127Met)	NC_000024.9:g.14837101A>G	VUS	1 lab	736a4a6005
6:42689631 PRPH2 CA>C	6	42689631	42689632	CA	C	PRPH2	c.441del	NM_000322.5	NP_000313.2:p.(Gly148AlafsTer5)	NC_000006.11:g.42689632del	(Likely) pathogenic	1 lab	736a59c6d3
7:103473962 RELN G>A	7	103473962	103473962	G	A	RELN	c.473+22C>T	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103473962G>A	(Likely) benign	1 lab	736a7446ee
12:109924385 UBE3B CAAAAAAAA>C	12	109924385	109924408	CAAAAAAAA	C	UBE3B	c.447+21_447+28del	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924401_109924408del	(Likely) benign	1 lab	736c69592a
11:94341790 PIWIL4 T>G	11	94341790	94341790	T	G	PIWIL4	c.1881T>G	NM_152431.3	NP_689644.2:p.(Asp627Glu)	NC_000011.9:g.94341790T>G	(Likely) benign	1 lab	736cb798a0
6:1611398 FOXC1 C>T	6	1611398	1611398	C	T	FOXC1	c.718C>T	NM_001453.3	NP_001444.2:p.(Leu240=)	NC_000006.11:g.1611398C>T	(Likely) benign	1 lab	736cc40040
1:161483686 FCGR2A C>T	1	161483686	161483686	C	T	FCGR2A	c.744C>T	NM_001136219.1	NP_001129691.1:p.(Ala248=)	NC_000001.10:g.161483686C>T	(Likely) benign	1 lab	736e21a7f2
17:78079577 GAA G>C	17	78079577	78079577	G	C	GAA	c.576G>C	NM_000152.3	NP_000143.2:p.(Glu192Asp)	NC_000017.10:g.78079577G>C	VUS	1 lab	736e9bedeb
6:170155487 ERMARD C>T	6	170155487	170155487	C	T	ERMARD	c.284C>T	NM_018341.2	NP_060811.1:p.(Ala95Val)	NC_000006.11:g.170155487C>T	(Likely) benign	1 lab	736eee8936
21:44838279 SIK1 C>A	21	44838279	44838279	C	A	SIK1	c.1605G>T	NM_173354.4	NP_775490.2:p.(Pro535=)	NC_000021.8:g.44838279C>A	(Likely) benign	1 lab	73723d98eb
17:79479363 ACTG1 G>A	17	79479363	79479363	G	A	ACTG1	c.18C>T	NM_001199954.2	NP_001186883.1:p.(Ala6=)	NC_000017.10:g.79479363G>A	(Likely) benign	1 lab	73731c5519
14:97322483 VRK1 T>C	14	97322483	97322483	T	C	VRK1	c.726T>C	NM_003384.2	NP_003375.1:p.(Gly242=)	NC_000014.8:g.97322483T>C	(Likely) benign	1 lab	73733bc594
8:124664860 KLHL38 T>C	8	124664860	124664860	T	C	KLHL38	c.307A>G	NM_001081675.3	NP_001075144.2:p.(Asn103Asp)	NC_000008.10:g.124664860T>C	(Likely) benign	1 lab	73740b3b0e
X:17744935 NHS C>T	X	17744935	17744935	C	T	NHS	c.2709C>T	NM_001291867.1	NP_001278796.1:p.(Asn903=)	NC_000023.10:g.17744935C>T	(Likely) benign	1 lab	73769a8edc
19:17100545 MISSING C>T	19	17100545	17100545	C	T	MISSING				NC_000019.9:g.17100545C>T	VUS	1 lab	73769aa67d
6:108395818 OSTM1 G>A	6	108395818	108395818	G	A	OSTM1	c.38C>T	NM_014028.3	NP_054747.2:p.(Ser13Leu)	NC_000006.11:g.108395818G>A	VUS	1 lab	7376a388ae
12:44165993 IRAK4 C>G	12	44165993	44165993	C	G	IRAK4	c.318C>G	NM_001351345.1	NP_001338274.1:p.(Pro106=)	NC_000012.11:g.44165993C>G	(Likely) benign	1 lab	737cc311b6
21:47773177 PCNT C>T	21	47773177	47773177	C	T	PCNT	c.1616C>T	NM_006031.5	NP_006022.3:p.(Thr539Ile)	NC_000021.8:g.47773177C>T	(Likely) benign	1 lab	737cf4ea3c
17:29559867 NF1 C>A	17	29559867	29559867	C	A	NF1	c.3464C>A	NM_000267.3	NP_000258.1:p.(Ala1155Asp)	NC_000017.10:g.29559867C>A	(Likely) pathogenic	1 lab	737d5f5a60
10:89624270 PTEN G>C	10	89624270	89624270	G	C	PTEN	c.563G>C	NM_001304717.5	NP_001291646.4:p.(Arg188Thr)	NC_000010.10:g.89624270G>C	(Likely) pathogenic	1 lab	f789583197
2:135887632 RAB3GAP1 A>G	2	135887632	135887632	A	G	RAB3GAP1	c.1041A>G	NM_001172435.1	NP_001165906.1:p.(Arg347=)	NC_000002.11:g.135887632A>G	(Likely) benign	1 lab	737f082a3b
11:8122137 TUB C>T	11	8122137	8122137	C	T	TUB	c.1369C>T	NM_003320.4	NP_003311.2:p.(Arg457Cys)	NC_000011.9:g.8122137C>T	VUS	1 lab	737f5322c1
17:18025744 MYO15A C>G	17	18025744	18025744	C	G	MYO15A	c.3609+21C>G	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18025744C>G	(Likely) benign	1 lab	737f89ba59
17:33520549 SLC35G3 C>T	17	33520549	33520549	C	T	SLC35G3	c.778G>A	NM_152462.2	NP_689675.1:p.(Gly260Arg)	NC_000017.10:g.33520549C>T	VUS	1 lab	737fce2883
19:55663236 TNNI3 C>T	19	55663236	55663236	C	T	TNNI3	c.599G>A	NM_000363.4	NP_000354.4:p.(Gly200Glu)	NC_000019.9:g.55663236C>T	VUS	1 lab	7381edc017
2:69746110 AAK1 C>T	2	69746110	69746110	C	T	AAK1	c.1473G>A	NM_014911.4	NP_055726.3:p.(Gln491=)	NC_000002.11:g.69746110C>T	(Likely) benign	1 lab	7382067e08
18:6942197 LAMA1 G>A	18	6942197	6942197	G	A	LAMA1	c.9109C>T	NM_005559.3	NP_005550.2:p.(Arg3037Cys)	NC_000018.9:g.6942197G>A	VUS	1 lab	7382a5a1b4
14:64632027 SYNE2 T>C	14	64632027	64632027	T	C	SYNE2	c.16504T>C	NM_182914.3	NP_878918.2:p.(Phe5502Leu)	NC_000014.8:g.64632027T>C	VUS	1 lab	f78b679c2a
X:152722020 HAUS7 T>G	X	152722020	152722020	T	G	HAUS7	c.566A>C	NM_017518.7	NP_059988.3:p.(Asn189Thr)	NC_000023.10:g.152722020T>G	(Likely) benign	1 lab	73854d9dfc
3:113847662 DRD3 C>T	3	113847662	113847662	C	T	DRD3	c.1104G>A	NM_000796.5	NP_000787.2:p.(Thr368=)	NC_000003.11:g.113847662C>T	(Likely) benign	1 lab	73861cff29
19:50887656 POLD1 A>G	19	50887656	50887656	A	G	POLD1	c.-5+9A>G	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50887656A>G	(Likely) benign	1 lab	7386e87243
19:42485916 ATP1A3 G>A	19	42485916	42485916	G	A	ATP1A3	c.1299C>T	NM_001256214.1	NP_001243143.1:p.(Arg433=)	NC_000019.9:g.42485916G>A	(Likely) benign	1 lab	7386f6717b
9:135797196 TSC1 T>G	9	135797196	135797196	T	G	TSC1	c.663+10A>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135797196T>G	(Likely) benign	1 lab	7387358ded
9:36923394 PAX5 C>T	9	36923394	36923394	C	T	PAX5	c.868G>A	NM_016734.2	NP_057953.1:p.(Gly290Arg)	NC_000009.11:g.36923394C>T	VUS	1 lab	7387467f50
2:218682462 TNS1 G>A	2	218682462	218682462	G	A	TNS1	c.4281C>T	NM_022648.5	NP_072174.3:p.(Thr1427=)	NC_000002.11:g.218682462G>A	(Likely) benign	1 lab	7388b33951
19:6711080 C3 C>A	19	6711080	6711080	C	A	C3	c.1397G>T	NM_000064.2	NP_000055.2:p.(Arg466Ile)	NC_000019.9:g.6711080C>A	(Likely) benign	1 lab	7388dca8d9
X:135488048 ADGRG4 T>C	X	135488048	135488048	T	C	ADGRG4	c.8852T>C	NM_153834.3	NP_722576.3:p.(Leu2951Pro)	NC_000023.10:g.135488048T>C	VUS	1 lab	738a442d7b
22:16287566 POTEH G>T	22	16287566	16287566	G	T	POTEH	c.320C>A	NM_001136213.1	NP_001129685.1:p.(Pro107His)	NC_000022.10:g.16287566G>T	(Likely) benign	1 lab	738be7d0ce
20:5096099 PCNA G>C	20	5096099	5096099	G	C	PCNA	c.702C>G	NM_002592.2	NP_002583.1:p.(Pro234=)	NC_000020.10:g.5096099G>C	(Likely) benign	1 lab	738c9d28ed
8:145739027 RECQL4 G>A	8	145739027	145739027	G	A	RECQL4	c.2128C>T	NM_004260.4	NP_004251.4:p.(Arg710Cys)	NC_000008.10:g.145739027G>A	VUS	1 lab	f79054dee7
10:100184084 HPS1 G>A	10	100184084	100184084	G	A	HPS1	c.1383C>T	NM_000195.4	NP_000186.2:p.(Pro461=)	NC_000010.10:g.100184084G>A	(Likely) benign	1 lab	738f23b150
2:179482902 TTN T>C	2	179482902	179482902	T	C	TTN	c.47269+14A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179482902T>C	(Likely) benign	1 lab	738fb64f05
3:101039160 IMPG2 C>G	3	101039160	101039160	C	G	IMPG2	c.57G>C	NM_016247.3	NP_057331.2:p.(Leu19=)	NC_000003.11:g.101039160C>G	(Likely) benign	1 lab	7390402b7c
17:41131677 PTGES3L C>G	17	41131677	41131677	C	G	PTGES3L	c.141G>C	NM_001261430.1	NP_001248359.1:p.(Gln47His)	NC_000017.10:g.41131677C>G	VUS	1 lab	739051188a
2:233347148 ECEL1 C>T	2	233347148	233347148	C	T	ECEL1	c.1776G>A	NM_004826.3	NP_004817.2:p.(Leu592=)	NC_000002.11:g.233347148C>T	(Likely) benign	1 lab	7390db23d0
12:52710276 KRT83 G>A	12	52710276	52710276	G	A	KRT83	c.1017C>T	NM_002282.3	NP_002273.3:p.(Ala339=)	NC_000012.11:g.52710276G>A	(Likely) benign	1 lab	73921718fe
17:78010479 CCDC40 C>T	17	78010479	78010479	C	T	CCDC40	c.18C>T	NM_017950.3	NP_060420.2:p.(Gly6=)	NC_000017.10:g.78010479C>T	VUS	1 lab	739259ee32
8:22269695 SLC39A14 C>T	8	22269695	22269695	C	T	SLC39A14	c.603C>T	NM_001135153.2	NP_001128625.1:p.(Asn201=)	NC_000008.10:g.22269695C>T	(Likely) benign	1 lab	7392db79f1
19:3770859 RAX2 C>T	19	3770859	3770859	C	T	RAX2	c.453G>A	NM_001319074.1	NP_001306003.1:p.(Ala151=)	NC_000019.9:g.3770859C>T	(Likely) benign	1 lab	7394870ad8
12:49580431 TUBA1A G>A	12	49580431	49580431	G	A	TUBA1A	c.189C>T	NM_006009.3	NP_006000.2:p.(Pro63=)	NC_000012.11:g.49580431G>A	(Likely) benign	1 lab	7395281b56
X:148048464 AFF2 A>G	X	148048464	148048464	A	G	AFF2	c.3058A>G	NM_002025.3	NP_002016.2:p.(Thr1020Ala)	NC_000023.10:g.148048464A>G	(Likely) benign	1 lab	73952cc032
6:167343106 RNASET2 G>T	6	167343106	167343106	G	T	RNASET2				NC_000006.11:g.167343106G>T	(Likely) benign	1 lab	73967d649b
X:40458854 ATP6AP2 A>G	X	40458854	40458854	A	G	ATP6AP2	c.599A>G	NM_005765.2	NP_005756.2:p.(His200Arg)	NC_000023.10:g.40458854A>G	VUS	1 lab	7397ee65c7
22:51159595 MISSING C>T	22	51159595	51159595	C	T	MISSING				NC_000022.10:g.51159595C>T	(Likely) benign	1 lab	73994cd5a0
18:29178659 TTR C>A	18	29178659	29178659	C	A	TTR	c.*21C>A	NM_000371.3	NP_000362.1:p.?	NC_000018.9:g.29178659C>A	(Likely) benign	1 lab	739a326988
22:38130669 TRIOBP C>G	22	38130669	38130669	C	G	TRIOBP	c.4326C>G	NM_001039141.2	NP_001034230.1:p.(His1442Gln)	NC_000022.10:g.38130669C>G	(Likely) benign	1 lab	739a5d8fd2
7:44153501 AEBP1 G>A	7	44153501	44153501	G	A	AEBP1	c.3118G>A	NM_001129.4	NP_001120.3:p.(Ala1040Thr)	NC_000007.13:g.44153501G>A	(Likely) benign	1 lab	739b8d193a
11:1481814 BRSK2 C>T	11	1481814	1481814	C	T	BRSK2	c.2072C>T	NM_001256627.2	NP_001243556.1:p.(Thr691Met)	NC_000011.9:g.1481814C>T	VUS	1 lab	f791527e96
11:78600997 TENM4 G>A	11	78600997	78600997	G	A	TENM4	c.917C>T	NM_001098816.2	NP_001092286.2:p.(Thr306Met)	NC_000011.9:g.78600997G>A	VUS	1 lab	739f8b93a8
5:127637202 FBN2 T>A	5	127637202	127637202	T	A	FBN2	c.5918A>T	NM_001999.4	NP_001990.2:p.(Asp1973Val)	NC_000005.9:g.127637202T>A	VUS	1 lab	f7917b37b4
7:138603729 KIAA1549 T>C	7	138603729	138603729	T	C	KIAA1549	c.643A>G	NM_001164665.1	NP_001158137.1:p.(Thr215Ala)	NC_000007.13:g.138603729T>C	VUS	1 lab	73a0c21ba5
4:71467349 AMBN C>G	4	71467349	71467349	C	G	AMBN	c.509C>G	NM_016519.5	NP_057603.1:p.(Ser170Ter)	NC_000004.11:g.71467349C>G	(Likely) pathogenic	1 lab	73a19ad721
9:140094377 TPRN G>C	9	140094377	140094377	G	C	TPRN	c.787C>G	NM_001128228.3	NP_001121700.2:p.(Pro263Ala)	NC_000009.11:g.140094377G>C	VUS	1 lab	73a2464055
7:1510854 INTS1 G>A	7	1510854	1510854	G	A	INTS1	c.6262C>T	NM_001080453.3	NP_001073922.2:p.(Leu2088=)	NC_000007.13:g.1510854G>A	(Likely) benign	1 lab	73a2f27ec0
6:33402959 SYNGAP1 A>T	6	33402959	33402959	A	T	SYNGAP1	c.540A>T	NM_006772.2	NP_006763.2:p.(Ser180=)	NC_000006.11:g.33402959A>T	(Likely) benign	1 lab	73a33e7bf2
14:94849061 SERPINA1 C>T	14	94849061	94849061	C	T	SERPINA1	c.514G>A	NM_000295.4	NP_000286.3:p.(Gly172Arg)	NC_000014.8:g.94849061C>T	(Likely) benign	1 lab	73a46c2afd
12:51112779 DIP2B G>A	12	51112779	51112779	G	A	DIP2B	c.3003G>A	NM_173602.2	NP_775873.2:p.(Ala1001=)	NC_000012.11:g.51112779G>A	(Likely) benign	1 lab	73a4ad460f
5:13701422 DNAH5 G>T	5	13701422	13701422	G	T	DNAH5	c.13462C>A	NM_001369.2	NP_001360.1:p.(Pro4488Thr)	NC_000005.9:g.13701422G>T	(Likely) benign	1 lab	73a4c519a5
11:119213723 C1QTNF5 G>A	11	119213723	119213723	G	A	C1QTNF5	c.-1512-10C>T	NM_015645.4	NP_056460.1:p.?	NC_000011.9:g.119213723G>A	(Likely) benign	1 lab	73a4da8f87
12:49420752 KMT2D G>A	12	49420752	49420752	G	A	KMT2D	c.14997C>T	NM_003482.3	NP_003473.3:p.(Gly4999=)	NC_000012.11:g.49420752G>A	(Likely) benign	1 lab	73a51f59f9
14:23862730 MYH6 G>A	14	23862730	23862730	G	A	MYH6	c.2929-3C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23862730G>A	VUS	1 lab	73a5400c44
X:8434098 VCX3B G>C	X	8434098	8434098	G	C	VCX3B	c.415G>C	NM_001001888.3	NP_001001888.3:p.(Glu139Gln)	NC_000023.10:g.8434098G>C	(Likely) benign	1 lab	73a7738a87
8:100654629 VPS13B T>G	8	100654629	100654629	T	G	VPS13B	c.5886T>G	NM_017890.4	NP_060360.3:p.(Pro1962=)	NC_000008.10:g.100654629T>G	(Likely) benign	1 lab	73a7a23726
17:18022168 MYO15A G>A	17	18022168	18022168	G	A	MYO15A	c.54G>A	NM_016239.3	NP_057323.3:p.(Lys18=)	NC_000017.10:g.18022168G>A	(Likely) benign	1 lab	73a7fe510c
X:17745406 NHS A>G	X	17745406	17745406	A	G	NHS	c.3180A>G	NM_001291867.1	NP_001278796.1:p.(Lys1060=)	NC_000023.10:g.17745406A>G	(Likely) benign	1 lab	73a9dabc17
X:153236166 HCFC1 C>T	X	153236166	153236166	C	T	HCFC1	c.126G>A	NM_005334.2	NP_005325.2:p.(Lys42=)	NC_000023.10:g.153236166C>T	(Likely) benign	1 lab	73ad5b211f
6:45514647 RUNX2 C>T	6	45514647	45514647	C	T	RUNX2	c.1171C>T	NM_001024630.3	NP_001019801.3:p.(Arg391Ter)	NC_000006.11:g.45514647C>T	(Likely) pathogenic	1 lab	73ae877603
11:108098321 ATM G>T	11	108098321	108098321	G	T	ATM	c.-30-1G>T	NM_001351834.1	NP_001338763.1:p.?	NC_000011.9:g.108098321G>T	VUS	1 lab	73aeb2229a
16:2136264 TSC2 T>C	16	2136264	2136264	T	C	TSC2	c.4733T>C	NM_000548.3	NP_000539.2:p.(Leu1578Pro)	NC_000016.9:g.2136264T>C	(Likely) pathogenic	1 lab	73af85039c
16:3306340 MEFV G>C	16	3306340	3306340	G	C	MEFV	c.248C>G	NM_000243.2	NP_000234.1:p.(Ala83Gly)	NC_000016.9:g.3306340G>C	VUS	1 lab	73af8ada0d
17:29559061 NF1 A>ATTT	17	29559061	29559087	A	ATTT	NF1	c.3198-6_3198-4dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559085_29559087dup	(Likely) benign	1 lab	73b0932361
9:135781059 TSC1 CTG>C	9	135781059	135781064	CTG	C	TSC1	c.1904_1905del	NM_000368.5	NP_000359.1:p.(Thr635ArgfsTer52)	NC_000009.11:g.135781063_135781064del	(Likely) pathogenic	1 lab	73b138c81e
19:11557949 PRKCSH G>A	19	11557949	11557949	G	A	PRKCSH	c.823G>A	NM_001289103.1	NP_001276032.1:p.(Ala275Thr)	NC_000019.9:g.11557949G>A	(Likely) benign	1 lab	73b1e9c1d8
11:134022851 NCAPD3 T>TTG	11	134022851	134022853	T	TTG	NCAPD3	c.4484_4485insCA	NM_015261.2	NP_056076.1:p.(Lys1495AsnfsTer62)	NC_000011.9:g.134022852_134022853insGT	VUS	1 lab	73b30ce9e3
15:28270027 OCA2 T>C	15	28270027	28270027	T	C	OCA2	c.537A>G	NM_000275.2	NP_000266.2:p.(Lys179=)	NC_000015.9:g.28270027T>C	VUS	1 lab	73b43d72b3
13:32928973 BRCA2 CTT>C	13	32928973	32928975	CTT	C	BRCA2	c.7008-24_7008-23del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928974_32928975del	(Likely) benign	1 lab	73b618537d
1:236148787 NID1 G>T	1	236148787	236148787	G	T	NID1	c.2947C>A	NM_002508.2	NP_002499.2:p.(Leu983Met)	NC_000001.10:g.236148787G>T	VUS	1 lab	73b8b94289
16:88783572 PIEZO1 G>A	16	88783572	88783572	G	A	PIEZO1	c.6519C>T	NM_001142864.4	NP_001136336.2:p.(Tyr2173=)	NC_000016.9:g.88783572G>A	(Likely) benign	1 lab	73b9fc4c80
6:152642366 SYNE1 G>T	6	152642366	152642366	G	T	SYNE1	c.16236+7C>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152642366G>T	(Likely) benign	1 lab	73ba5b654c
17:1637088 WDR81 C>T	17	1637088	1637088	C	T	WDR81	c.4757C>T	NM_001163809.1	NP_001157281.1:p.(Ser1586Leu)	NC_000017.10:g.1637088C>T	VUS	1 lab	73bb80a9b1
5:14681580 OTULIN A>G	5	14681580	14681580	A	G	OTULIN	c.332A>G	NM_138348.6	NP_612357.4:p.(Glu111Gly)	NC_000005.9:g.14681580A>G	VUS	1 lab	f795908ad5
6:73023357 RIMS1 G>A	6	73023357	73023357	G	A	RIMS1	c.4112G>A	NM_014989.5	NP_055804.2:p.(Arg1371His)	NC_000006.11:g.73023357G>A	(Likely) benign	1 lab	73bd9473b9
1:155264936 PKLR C>T	1	155264936	155264936	C	T	PKLR	c.665G>A	NM_000298.6	NP_000289.1:p.(Gly222Glu)	NC_000001.10:g.155264936C>T	VUS	1 lab	73bf22ddd3
1:216011397 USH2A T>C	1	216011397	216011397	T	C	USH2A	c.9307A>G	NM_206933.2	NP_996816.2:p.(Ile3103Val)	NC_000001.10:g.216011397T>C	(Likely) benign	1 lab	73c18d528b
8:77763359 ZFHX4 A>G	8	77763359	77763359	A	G	ZFHX4	c.4202A>G	NM_024721.5	NP_078997.4:p.(His1401Arg)	NC_000008.10:g.77763359A>G	VUS	1 lab	f795c8c78c
X:44922666 KDM6A G>A	X	44922666	44922666	G	A	KDM6A	c.1528-1G>A	NM_021140.4	NP_066963.2:p.?	NC_000023.10:g.44922666G>A	(Likely) pathogenic	1 lab	f79c3cf69e
6:32011274 TNXB G>A	6	32011274	32011274	G	A	TNXB	c.11584C>T	NM_019105.6	NP_061978.6:p.(His3862Tyr)	NC_000006.11:g.32011274G>A	(Likely) benign	1 lab	73c68eec6a
2:179621351 TTN G>A	2	179621351	179621351	G	A	TTN	c.10852C>T	NM_001267550.1	NP_001254479.1:p.(Gln3618Ter)	NC_000002.11:g.179621351G>A	VUS	1 lab	73c76a1304
18:56411708 MALT1 A>G	18	56411708	56411708	A	G	MALT1	c.1892A>G	NM_006785.4	NP_006776.1:p.(Tyr631Cys)	NC_000018.9:g.56411708A>G	VUS	1 lab	73cb7c189c
4:5567086 EVC2 C>T	4	5567086	5567086	C	T	EVC2	c.3318G>A	NM_001166136.1	NP_001159608.1:p.(Arg1106=)	NC_000004.11:g.5567086C>T	(Likely) benign	1 lab	73cdbaf154
16:88799018 PIEZO1 G>C	16	88799018	88799018	G	C	PIEZO1	c.2787C>G	NM_001142864.4	NP_001136336.2:p.(Ile929Met)	NC_000016.9:g.88799018G>C	VUS	1 lab	73ce89388f
15:23890862 MAGEL2 C>A	15	23890862	23890862	C	A	MAGEL2	c.2028G>T	NM_019066.4	NP_061939.3:p.(Glu676Asp)	NC_000015.9:g.23890862C>A	VUS	1 lab	73cf420d7a
X:17750064 NHS G>A	X	17750064	17750064	G	A	NHS	c.4436G>A	NM_001291867.1	NP_001278796.1:p.(Ser1479Asn)	NC_000023.10:g.17750064G>A	(Likely) benign	1 lab	73d0d07b2a
9:117266511 WHRN C>A	9	117266511	117266511	C	A	WHRN	c.571G>T	NM_015404.3	NP_056219.3:p.(Val191Phe)	NC_000009.11:g.117266511C>A	VUS	1 lab	73d0fc9676
X:17743754 NHS G>C	X	17743754	17743754	G	C	NHS	c.1528G>C	NM_001291867.1	NP_001278796.1:p.(Glu510Gln)	NC_000023.10:g.17743754G>C	VUS	1 lab	73d118c808
X:102004385 ARMCX5-GPRASP2 G>A	X	102004385	102004385	G	A	ARMCX5-GPRASP2	c.462G>A	NM_001350268.1	NP_001337197.1:p.(Ala154=)	NC_000023.10:g.102004385G>A	(Likely) benign	1 lab	73d12c42ea
X:153186944 ARHGAP4 C>A	X	153186944	153186944	C	A	ARHGAP4	c.309G>T	NM_001164741.1	NP_001158213.1:p.(Trp103Cys)	NC_000023.10:g.153186944C>A	VUS	1 lab	73d3a44b10
X:73961356 NEXMIF C>T	X	73961356	73961356	C	T	NEXMIF	c.3036G>A	NM_001008537.2	NP_001008537.1:p.(Lys1012=)	NC_000023.10:g.73961356C>T	(Likely) benign	1 lab	73d432119f
2:73799431 ALMS1 T>C	2	73799431	73799431	T	C	ALMS1	c.10430T>C	NM_015120.4	NP_055935.4:p.(Val3477Ala)	NC_000002.11:g.73799431T>C	VUS	1 lab	73d6f378b4
1:155744938 GON4L G>A	1	155744938	155744938	G	A	GON4L	c.2205C>T	NM_001282860.1	NP_001269789.1:p.(Ser735=)	NC_000001.10:g.155744938G>A	(Likely) benign	1 lab	73d941b687
7:32467553 PDE1C T>A	7	32467553	32467553	T	A	PDE1C	c.191A>T	NM_001322059.1	NP_001308988.1:p.(Gln64Leu)	NC_000007.13:g.32467553T>A	VUS	1 lab	73dc6392b4
6:146755072 GRM1 A>G	6	146755072	146755072	A	G	GRM1	c.2725A>G	NM_001278064.1	NP_001264993.1:p.(Met909Val)	NC_000006.11:g.146755072A>G	(Likely) benign	1 lab	73dcfa2320
X:65247333 VSIG4 T>A	X	65247333	65247333	T	A	VSIG4	c.793A>T	NM_001184830.1	NP_001171759.1:p.(Thr265Ser)	NC_000023.10:g.65247333T>A	(Likely) benign	1 lab	73e072d009
11:2192981 TH CT>C	11	2192981	2192983	CT	C	TH	c.35del	NM_199292.3	NP_954986.2:p.(Lys12ArgfsTer20)	NC_000011.9:g.2192983del	(Likely) pathogenic	1 lab	f79d4eb756
9:77470476 TRPM6 G>A	9	77470476	77470476	G	A	TRPM6	c.119C>T	NM_017662.4	NP_060132.3:p.(Thr40Ile)	NC_000009.11:g.77470476G>A	(Likely) benign	1 lab	73e1dd87fb
2:179480511 TTN A>G	2	179480511	179480511	A	G	TTN	c.48317T>C	NM_001267550.1	NP_001254479.1:p.(Met16106Thr)	NC_000002.11:g.179480511A>G	VUS	1 lab	73e2eac7f7
19:4817932 TICAM1 C>T	19	4817932	4817932	C	T	TICAM1	c.458G>A	NM_182919.3	NP_891549.1:p.(Gly153Glu)	NC_000019.9:g.4817932C>T	VUS	1 lab	73e3e5c2a6
X:41333034 NYX C>T	X	41333034	41333034	C	T	NYX	c.328C>T	NM_022567.2	NP_072089.1:p.(Pro110Ser)	NC_000023.10:g.41333034C>T	(Likely) benign	1 lab	73e5658d38
2:179523008 TTN C>T	2	179523008	179523008	C	T	TTN	c.37702G>A	NM_001267550.1	NP_001254479.1:p.(Ala12568Thr)	NC_000002.11:g.179523008C>T	(Likely) benign	1 lab	73e576a7b3
X:47487492 CFP C>T	X	47487492	47487492	C	T	CFP	c.403+9G>A	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47487492C>T	(Likely) benign	1 lab	73e7bbff6a
10:135044509 UTF1 G>C	10	135044509	135044509	G	C	UTF1	c.589G>C	NM_003577.3	NP_003568.2:p.(Asp197His)	NC_000010.10:g.135044509G>C	VUS	1 lab	73e7bedfcb
3:33058254 GLB1 G>A	3	33058254	33058254	G	A	GLB1	c.1570C>T	NM_001317040.1	NP_001303969.1:p.(Leu524=)	NC_000003.11:g.33058254G>A	(Likely) benign	1 lab	73e86a3913
6:159420735 RSPH3 G>A	6	159420735	159420735	G	A	RSPH3	c.274C>T	NM_031924.5	NP_114130.3:p.(Pro92Ser)	NC_000006.11:g.159420735G>A	(Likely) benign	1 lab	73e8f90810
16:58032048 ZNF319 G>A	16	58032048	58032048	G	A	ZNF319	c.122C>T	NM_020807.2	NP_065858.1:p.(Ala41Val)	NC_000016.9:g.58032048G>A	VUS	1 lab	73e911c2db
20:42744734 JPH2 G>C	20	42744734	42744734	G	C	JPH2	c.1581C>G	NM_020433.4	NP_065166.2:p.(Ser527=)	NC_000020.10:g.42744734G>C	(Likely) benign	1 lab	73e9aed72b
13:48954198 RB1 C>T	13	48954198	48954198	C	T	RB1	c.1399C>T	NM_000321.3	NP_000312.2:p.(Arg467Ter)	NC_000013.10:g.48954198C>T	(Likely) pathogenic	1 lab	f79de79db0
11:65639424 EFEMP2 C>A	11	65639424	65639424	C	A	EFEMP2	c.160+17G>T	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65639424C>A	(Likely) benign	1 lab	73ebb6a5d2
11:122805602 JHY C>G	11	122805602	122805602	C	G	JHY	c.1453C>G	NM_024806.3	NP_079082.2:p.(Leu485Val)	NC_000011.9:g.122805602C>G	(Likely) benign	1 lab	73ed2b9ecd
14:61275088 MNAT1 A>G	14	61275088	61275088	A	G	MNAT1	c.362A>G	NM_002431.4	NP_002422.1:p.(Lys121Arg)	NC_000014.8:g.61275088A>G	(Likely) benign	1 lab	73eeeb26df
X:47486641 CFP C>T	X	47486641	47486641	C	T	CFP	c.665G>A	NM_002621.2	NP_002612.1:p.(Arg222His)	NC_000023.10:g.47486641C>T	VUS	1 lab	73eef381a1
2:97779540 ANKRD36 G>A	2	97779540	97779540	G	A	ANKRD36	c.64G>A	NM_001354587.1	NP_001341516.1:p.(Ala22Thr)	NC_000002.11:g.97779540G>A	(Likely) benign	1 lab	73f00a079d
X:49065105 CACNA1F C>T	X	49065105	49065105	C	T	CACNA1F	c.5026G>A	NM_005183.3	NP_005174.2:p.(Gly1676Arg)	NC_000023.10:g.49065105C>T	VUS	1 lab	73f00f307d
X:54495247 FGD1 G>A	X	54495247	54495247	G	A	FGD1	c.1164C>T	NM_004463.2	NP_004454.2:p.(Tyr388=)	NC_000023.10:g.54495247G>A	(Likely) benign	1 lab	73f102c30c
21:47627391 LSS T>TG	21	47627391	47627395	T	TG	LSS	c.1177dup	NM_001145437.1	NP_001138909.1:p.(His393ProfsTer32)	NC_000021.8:g.47627395dup	(Likely) pathogenic	1 lab	73f46f078a
19:33608799 GPATCH1 G>A	19	33608799	33608799	G	A	GPATCH1	c.2265G>A	NM_018025.2	NP_060495.2:p.(Arg755=)	NC_000019.9:g.33608799G>A	(Likely) benign	1 lab	73f48f5c1e
6:51524410 PKHD1 C>T	6	51524410	51524410	C	T	PKHD1	c.10514G>A	NM_138694.3	NP_619639.3:p.(Ser3505Asn)	NC_000006.11:g.51524410C>T	(Likely) benign	1 lab	73f82dfcfa
2:238275810 COL6A3 C>T	2	238275810	238275810	C	T	COL6A3	c.5020G>A	NM_004369.3	NP_004360.2:p.(Asp1674Asn)	NC_000002.11:g.238275810C>T	VUS	1 lab	73f931f30e
15:41341589 INO80 C>A	15	41341589	41341589	C	A	INO80	c.2472G>T	NM_017553.3	NP_060023.1:p.(Arg824=)	NC_000015.9:g.41341589C>A	(Likely) benign	1 lab	73f97cece3
X:152807150 ATP2B3 G>A	X	152807150	152807150	G	A	ATP2B3	c.430G>A	NM_021949.3	NP_068768.2:p.(Ala144Thr)	NC_000023.10:g.152807150G>A	(Likely) benign	1 lab	73f9aa9d12
8:124821230 FAM91A1 T>C	8	124821230	124821230	T	C	FAM91A1	c.1509T>C	NM_001317917.1	NP_001304846.1:p.(Ala503=)	NC_000008.10:g.124821230T>C	(Likely) benign	1 lab	73fa0b591d
X:111000900 ALG13 A>G	X	111000900	111000900	A	G	ALG13	c.2824A>G	NM_001257231.1	NP_001244160.1:p.(Thr942Ala)	NC_000023.10:g.111000900A>G	(Likely) benign	1 lab	73fa203df7
2:152483682 NEB A>G	2	152483682	152483682	A	G	NEB	c.10181T>C	NM_001271208.1	NP_001258137.1:p.(Ile3394Thr)	NC_000002.11:g.152483682A>G	VUS	1 lab	73fa6550ee
17:33501331 UNC45B G>A	17	33501331	33501331	G	A	UNC45B	c.1901G>A	NM_001033576.1	NP_001028748.1:p.(Cys634Tyr)	NC_000017.10:g.33501331G>A	VUS	1 lab	73fab4493b
17:19566683 ALDH3A2 G>C	17	19566683	19566683	G	C	ALDH3A2	c.978G>C	NM_001031806.1	NP_001026976.1:p.(Lys326Asn)	NC_000017.10:g.19566683G>C	(Likely) benign	1 lab	73fad9e513
4:41259639 UCHL1 T>C	4	41259639	41259639	T	C	UCHL1	c.59T>C	NM_004181.4	NP_004172.2:p.(Leu20Pro)	NC_000004.11:g.41259639T>C	VUS	1 lab	73fb0ac8f9
8:145641520 SLC39A4 A>C	8	145641520	145641520	A	C	SLC39A4	c.73T>G	NM_017767.2	NP_060237.2:p.(Ser25Ala)	NC_000008.10:g.145641520A>C	(Likely) benign	1 lab	73fcbb338d
1:65831827 DNAJC6 C>G	1	65831827	65831827	C	G	DNAJC6	c.491C>G	NM_001256864.2	NP_001243793.1:p.(Thr164Arg)	NC_000001.10:g.65831827C>G	VUS	1 lab	73fe1cdc8c
12:81028729 MISSING G>A	12	81028729	81028729	G	A	MISSING				NC_000012.11:g.81028729G>A	VUS	1 lab	73ff40e89e
16:2115489 TSC2 C>CT	16	2115489	2115490	C	CT	TSC2	c.1600-30dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2115490dup	(Likely) benign	1 lab	74005a19b8
17:29592355 NF1 GAG>AGA	17	29592355	29592357	GAG	AGA	NF1	c.4770_4772delinsAGA	NM_000267.3	NP_000258.1:p.(Arg1591Glu)	NC_000017.10:g.29592355_29592357delinsAGA	(Likely) pathogenic	1 lab	74006f2192
16:81129798 GCSH C>T	16	81129798	81129798	C	T	GCSH	c.86G>A	NM_004483.4	NP_004474.2:p.(Arg29Lys)	NC_000016.9:g.81129798C>T	(Likely) benign	1 lab	7403910d90
8:144999994 PLEC G>A	8	144999994	144999994	G	A	PLEC	c.4514C>T	NM_201380.3	NP_958782.1:p.(Ala1505Val)	NC_000008.10:g.144999994G>A	(Likely) benign	1 lab	7404a14571
X:70643035 TAF1 G>A	X	70643035	70643035	G	A	TAF1	c.4581G>A	NM_001286074.1	NP_001273003.1:p.(Ala1527=)	NC_000023.10:g.70643035G>A	(Likely) benign	1 lab	74050c09b8
11:19209735 CSRP3 C>T	11	19209735	19209735	C	T	CSRP3				NC_000011.9:g.19209735C>T	VUS	1 lab	740512146b
9:139905528 ABCA2 C>T	9	139905528	139905528	C	T	ABCA2	c.6043G>A	NM_212533.2	NP_997698.1:p.(Glu2015Lys)	NC_000009.11:g.139905528C>T	VUS	1 lab	7405a0e9cf
21:34003387 SYNJ1 G>A	21	34003387	34003387	G	A	SYNJ1	c.4757C>T	NM_003895.3	NP_003886.3:p.(Pro1586Leu)	NC_000021.8:g.34003387G>A	(Likely) benign	1 lab	7405d2c89f
7:75617418 TMEM120A C>T	7	75617418	75617418	C	T	TMEM120A	c.612G>A	NM_031925.3	NP_114131.1:p.(Ser204=)	NC_000007.13:g.75617418C>T	VUS	1 lab	7407d816a7
19:45860791 ERCC2 C>T	19	45860791	45860791	C	T	ERCC2	c.1318G>A	NM_000400.3	NP_000391.1:p.(Ala440Thr)	NC_000019.9:g.45860791C>T	VUS	1 lab	74080a6528
2:179611640 TTN G>A	2	179611640	179611640	G	A	TTN	c.15487C>T	NM_133379.5	NP_596870.2:p.(Arg5163Cys)	NC_000002.11:g.179611640G>A	VUS	1 lab	f7a0d88df5
1:39918368 MACF1 C>T	1	39918368	39918368	C	T	MACF1	c.14449C>T	NM_012090.5	NP_036222.3:p.(Arg4817Ter)	NC_000001.10:g.39918368C>T	(Likely) pathogenic	1 lab	7408fe3102
11:552630 LRRC56 C>T	11	552630	552630	C	T	LRRC56	c.1243C>T	NM_198075.4	NP_932341.1:p.(Arg415Trp)	NC_000011.9:g.552630C>T	VUS	1 lab	740992e246
2:202073823 CASP10 G>A	2	202073823	202073823	G	A	CASP10	c.953G>A	NM_032977.3	NP_116759.2:p.(Gly318Glu)	NC_000002.11:g.202073823G>A	(Likely) benign	1 lab	740a8c509f
11:72004570 CLPB G>C	11	72004570	72004570	G	C	CLPB	c.1965C>G	NM_030813.6	NP_110440.1:p.(Asp655Glu)	NC_000011.9:g.72004570G>C	VUS	1 lab	740aea2dd6
6:75801077 COL12A1 C>T	6	75801077	75801077	C	T	COL12A1	c.8714G>A	NM_004370.5	NP_004361.3:p.(Arg2905Gln)	NC_000006.11:g.75801077C>T	VUS	1 lab	740cfad238
12:48388220 COL2A1 G>A	12	48388220	48388220	G	A	COL2A1	c.803C>T	NM_001844.4	NP_001835.3:p.(Pro268Leu)	NC_000012.11:g.48388220G>A	VUS	1 lab	740e92e1e6
12:106848332 POLR3B A>G	12	106848332	106848332	A	G	POLR3B	c.2136A>G	NM_018082.5	NP_060552.4:p.(Leu712=)	NC_000012.11:g.106848332A>G	(Likely) benign	1 lab	740f355d17
9:75420357 TMC1 G>A	9	75420357	75420357	G	A	TMC1	c.1626G>A	NM_138691.2	NP_619636.2:p.(Gly542=)	NC_000009.11:g.75420357G>A	(Likely) benign	1 lab	74132d9cf3
17:29684070 NF1 ACTGATCCGAAGATC>A	17	29684070	29684085	ACTGATCCGAAGATC	A	NF1	c.7833_7846del	NM_001042492.3	NP_001035957.1:p.(Asp2612GlyfsTer17)	NC_000017.10:g.29684072_29684085del	(Likely) pathogenic	1 lab	74163828ec
2:179477476 TTN T>G	2	179477476	179477476	T	G	TTN	c.49948+24A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179477476T>G	(Likely) benign	1 lab	7419a44887
X:139038107 CXorf66 G>A	X	139038107	139038107	G	A	CXorf66	c.1034C>T	NM_001013403.2	NP_001013421.1:p.(Thr345Met)	NC_000023.10:g.139038107G>A	(Likely) benign	1 lab	7419c2833b
1:19481550 UBR4 G>A	1	19481550	19481550	G	A	UBR4	c.6320C>T	NM_020765.2	NP_065816.2:p.(Ala2107Val)	NC_000001.10:g.19481550G>A	VUS	1 lab	741a668edb
12:49579640 TUBA1A G>C	12	49579640	49579640	G	C	TUBA1A	c.509C>G	NM_001270399.1	NP_001257328.1:p.(Ser170Cys)	NC_000012.11:g.49579640G>C	(Likely) pathogenic	1 lab	741b1670dd
8:65528568 CYP7B1 G>A	8	65528568	65528568	G	A	CYP7B1	c.530C>T	NM_004820.4	NP_004811.1:p.(Thr177Met)	NC_000008.10:g.65528568G>A	(Likely) benign	1 lab	741c1314b9
X:48675846 HDAC6 T>C	X	48675846	48675846	T	C	HDAC6	c.1905T>C	NM_001321226.1	NP_001308155.1:p.(Thr635=)	NC_000023.10:g.48675846T>C	(Likely) benign	1 lab	741ffb7249
X:154754287 TMLHE T>G	X	154754287	154754287	T	G	TMLHE	c.188A>C	NM_018196.3	NP_060666.1:p.(Lys63Thr)	NC_000023.10:g.154754287T>G	(Likely) benign	1 lab	7420b888c8
9:14801858 FREM1 C>G	9	14801858	14801858	C	G	FREM1	c.3486G>C	NM_144966.5	NP_659403.4:p.(Gln1162His)	NC_000009.11:g.14801858C>G	(Likely) benign	1 lab	7422dcbfa0
2:170113642 LRP2 G>A	2	170113642	170113642	G	A	LRP2	c.2631C>T	NM_004525.3	NP_004516.2:p.(Ile877=)	NC_000002.11:g.170113642G>A	(Likely) benign	1 lab	7423043111
X:66943635 AR CA>C	X	66943635	66943637	CA	C	AR	c.2717del	NM_000044.6	NP_000035.2:p.(Lys906ArgfsTer38)	NC_000023.10:g.66943637del	(Likely) pathogenic	1 lab	7425b5f958
14:102442110 DYNC1H1 C>T	14	102442110	102442110	C	T	DYNC1H1	c.318C>T	NM_001376.4	NP_001367.2:p.(Asp106=)	NC_000014.8:g.102442110C>T	(Likely) benign	1 lab	74269f62e4
20:43995543 SYS1 C>T	20	43995543	43995543	C	T	SYS1	c.259C>T	NM_001197129.1	NP_001184058.1:p.(Arg87Ter)	NC_000020.10:g.43995543C>T	VUS	1 lab	7426d618ea
11:65315503 LTBP3 G>A	11	65315503	65315503	G	A	LTBP3	c.1734C>T	NM_001130144.2	NP_001123616.1:p.(Cys578=)	NC_000011.9:g.65315503G>A	(Likely) benign	1 lab	74287eff94
13:32914529 BRCA2 A>T	13	32914529	32914529	A	T	BRCA2	c.6037A>T	NM_000059.3	NP_000050.2:p.(Lys2013Ter)	NC_000013.10:g.32914529A>T	(Likely) pathogenic	1 lab	742970f3f5
11:102985956 DYNC2H1 C>G	11	102985956	102985956	C	G	DYNC2H1	c.553C>G	NM_001080463.1	NP_001073932.1:p.(Arg185Gly)	NC_000011.9:g.102985956C>G	VUS	1 lab	7429c4f39c
1:186017905 HMCN1 C>T	1	186017905	186017905	C	T	HMCN1	c.6511C>T	NM_031935.2	NP_114141.2:p.(Arg2171Cys)	NC_000001.10:g.186017905C>T	VUS	1 lab	7429d3798c
X:153035632 PLXNB3 A>G	X	153035632	153035632	A	G	PLXNB3	c.1784A>G	NM_001163257.1	NP_001156729.1:p.(His595Arg)	NC_000023.10:g.153035632A>G	(Likely) benign	1 lab	742b528b91
12:80943235 MISSING T>C	12	80943235	80943235	T	C	MISSING				NC_000012.11:g.80943235T>C	(Likely) benign	1 lab	742bcf17ba
3:46944951 PTH1R C>T	3	46944951	46944951	C	T	PTH1R	c.1587C>T	NM_000316.2	NP_000307.1:p.(Asn529=)	NC_000003.11:g.46944951C>T	(Likely) benign	1 lab	742bdcd4b7
2:219254667 SLC11A1 C>T	2	219254667	219254667	C	T	SLC11A1	c.870C>T	NM_000578.4	NP_000569.3:p.(Ile290=)	NC_000002.11:g.219254667C>T	(Likely) benign	1 lab	f7a7e774d4
16:3706990 DNASE1 G>A	16	3706990	3706990	G	A	DNASE1	c.437-10G>A	NM_005223.3	NP_005214.2:p.?	NC_000016.9:g.3706990G>A	(Likely) benign	1 lab	742d493414
21:46888662 COL18A1 G>A	21	46888662	46888662	G	A	COL18A1	c.613G>A	NM_130445.2	NP_569712.2:p.(Val205Met)	NC_000021.8:g.46888662G>A	VUS	1 lab	742db6989a
11:17632736 OTOG C>T	11	17632736	17632736	C	T	OTOG	c.5925C>T	NM_001277269.1	NP_001264198.1:p.(Ser1975=)	NC_000011.9:g.17632736C>T	(Likely) benign	1 lab	742de454dc
6:71011749 COL9A1 T>G	6	71011749	71011749	T	G	COL9A1	c.43A>C	NM_001851.4	NP_001842.3:p.(Ser15Arg)	NC_000006.11:g.71011749T>G	(Likely) benign	1 lab	742f2c8c27
1:116243865 CASQ2 TTCA>T	1	116243865	116243876	TTCA	T	CASQ2	c.1194_1196del	NM_001232.4	NP_001223.2:p.(Asp398del)	NC_000001.10:g.116243874_116243876del	(Likely) benign	1 lab	742fce7067
12:57965859 KIF5A C>T	12	57965859	57965859	C	T	KIF5A	c.1378C>T	NM_004984.3	NP_004975.2:p.(Arg460Ter)	NC_000012.11:g.57965859C>T	(Likely) pathogenic	1 lab	74309853e6
20:62562385 DNAJC5 C>T	20	62562385	62562385	C	T	DNAJC5	c.493+10C>T	NM_025219.2	NP_079495.1:p.?	NC_000020.10:g.62562385C>T	(Likely) benign	1 lab	743197763b
1:877608 SAMD11 C>T	1	877608	877608	C	T	SAMD11	c.962C>T	NM_152486.3	NP_689699.2:p.(Pro321Leu)	NC_000001.10:g.877608C>T	VUS	1 lab	74334ac1b8
4:126238829 FAT4 G>C	4	126238829	126238829	G	C	FAT4	c.1263G>C	NM_001291303.1	NP_001278232.1:p.(Lys421Asn)	NC_000004.11:g.126238829G>C	VUS	1 lab	7436294ffd
17:7752509 KDM6B T>G	17	7752509	7752509	T	G	KDM6B	c.2903T>G	NM_001080424.2	NP_001073893.1:p.(Val968Gly)	NC_000017.10:g.7752509T>G	(Likely) benign	1 lab	7436a14883
2:179479609 TTN C>A	2	179479609	179479609	C	A	TTN	c.48725G>T	NM_001267550.1	NP_001254479.1:p.(Arg16242Ile)	NC_000002.11:g.179479609C>A	VUS	1 lab	7438fd20e2
2:73717365 ALMS1 C>G	2	73717365	73717365	C	G	ALMS1	c.8282C>G	NM_015120.4	NP_055935.4:p.(Pro2761Arg)	NC_000002.11:g.73717365C>G	(Likely) benign	1 lab	7439259692
X:140985039 MAGEC3 G>A	X	140985039	140985039	G	A	MAGEC3	c.1495G>A	NM_138702.1	NP_619647.1:p.(Gly499Arg)	NC_000023.10:g.140985039G>A	(Likely) benign	1 lab	743cd9395d
3:167422682 PDCD10 A>G	3	167422682	167422682	A	G	PDCD10	c.98T>C	NM_007217.3	NP_009148.2:p.(Leu33Pro)	NC_000003.11:g.167422682A>G	VUS	1 lab	743d67a146
11:108190688 ATM G>T	11	108190688	108190688	G	T	ATM	c.6355G>T	NM_000051.3	NP_000042.3:p.(Val2119Leu)	NC_000011.9:g.108190688G>T	(Likely) benign	1 lab	743d82dfb3
7:6548595 GRID2IP G>A	7	6548595	6548595	G	A	GRID2IP	c.2121C>T	NM_001145118.1	NP_001138590.1:p.(Tyr707=)	NC_000007.13:g.6548595G>A	(Likely) benign	1 lab	744008bd62
21:46935762 SLC19A1 G>GGGGCCT	21	46935762	46935773	G	GGGGCCT	SLC19A1	c.1226_1231dup	NM_001352510.1	NP_001339439.1:p.(Gln409_Ala410dup)	NC_000021.8:g.46935768_46935773dup	VUS	1 lab	74423968d7
8:67578144 VCPIP1 G>A	8	67578144	67578144	G	A	VCPIP1	c.1050C>T	NM_025054.5	NP_079330.2:p.(Ser350=)	NC_000008.10:g.67578144G>A	(Likely) benign	1 lab	74432d6ab5
7:99801713 STAG3 T>C	7	99801713	99801713	T	C	STAG3	c.2770T>C	NM_001282717.1	NP_001269646.1:p.(Cys924Arg)	NC_000007.13:g.99801713T>C	VUS	1 lab	744663c01f
1:22173854 HSPG2 G>A	1	22173854	22173854	G	A	HSPG2	c.8160C>T	NM_001291860.1	NP_001278789.1:p.(Ser2720=)	NC_000001.10:g.22173854G>A	(Likely) benign	1 lab	7448b75e27
4:126411575 FAT4 A>T	4	126411575	126411575	A	T	FAT4	c.13604A>T	NM_001291303.1	NP_001278232.1:p.(Lys4535Met)	NC_000004.11:g.126411575A>T	(Likely) benign	1 lab	7449347bb4
1:210334201 SYT14 T>C	1	210334201	210334201	T	C	SYT14	c.1539T>C	NM_001146262.2	NP_001139734.1:p.(Phe513=)	NC_000001.10:g.210334201T>C	(Likely) benign	1 lab	744a978e2e
2:179664606 TTN CTT>C	2	179664606	179664609	CTT	C	TTN	c.613_614del	NM_001267550.2	NP_001254479.2:p.(Lys205AspfsTer17)	NC_000002.11:g.179664608_179664609del	(Likely) pathogenic	1 lab	f7a7ea4760
12:110600716 IFT81 T>G	12	110600716	110600716	T	G	IFT81	c.1042-8T>G	NM_014055.3	NP_054774.2:p.?	NC_000012.11:g.110600716T>G	(Likely) benign	1 lab	744d053516
17:29559089 NF1 A>G	17	29559089	29559089	A	G	NF1	c.3198-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559089A>G	(Likely) pathogenic	1 lab	744e537ff2
4:68939695 TMPRSS11F G>A	4	68939695	68939695	G	A	TMPRSS11F	c.315C>T	NM_207407.2	NP_997290.2:p.(Gly105=)	NC_000004.11:g.68939695G>A	(Likely) benign	1 lab	744eeac45e
3:119134031 ARHGAP31 C>T	3	119134031	119134031	C	T	ARHGAP31	c.3255C>T	NM_020754.3	NP_065805.2:p.(Pro1085=)	NC_000003.11:g.119134031C>T	(Likely) benign	1 lab	744f536785
14:80164211 NRXN3 T>C	14	80164211	80164211	T	C	NRXN3	c.3945T>C	NM_001330195.1	NP_001317124.1:p.(Thr1315=)	NC_000014.8:g.80164211T>C	(Likely) benign	1 lab	744f652b7b
9:35738146 GBA2 C>T	9	35738146	35738146	C	T	GBA2	c.2201G>A	NM_001330660.1	NP_001317589.1:p.(Arg734His)	NC_000009.11:g.35738146C>T	(Likely) benign	1 lab	744fb59128
16:28499963 CLN3 C>T	16	28499963	28499963	C	T	CLN3	c.243G>A	NM_001042432.1	NP_001035897.1:p.(Pro81=)	NC_000016.9:g.28499963C>T	(Likely) benign	1 lab	744fc09344
4:15569078 CC2D2A C>A	4	15569078	15569078	C	A	CC2D2A	c.3261C>A	NM_001080522.2	NP_001073991.2:p.(Thr1087=)	NC_000004.11:g.15569078C>A	(Likely) benign	1 lab	74503b8ce8
X:102471375 BEX4 G>A	X	102471375	102471375	G	A	BEX4	c.294G>A	NM_001127688.2	NP_001121160.1:p.(Gln98=)	NC_000023.10:g.102471375G>A	(Likely) benign	1 lab	7450cb9e71
4:39233407 WDR19 T>C	4	39233407	39233407	T	C	WDR19	c.1983-10T>C	NM_025132.3	NP_079408.3:p.?	NC_000004.11:g.39233407T>C	(Likely) benign	1 lab	7450e50b47
9:14902 WASHC1 C>T	9	14902	14902	C	T	WASHC1	c.1303G>A	NM_182905.4	NP_878908.4:p.(Gly435Arg)	NC_000009.11:g.14902C>T	VUS	1 lab	74519fba7a
15:71535092 THSD4 G>A	15	71535092	71535092	G	A	THSD4	c.569G>A	NM_024817.2	NP_079093.2:p.(Arg190Gln)	NC_000015.9:g.71535092G>A	(Likely) benign	1 lab	f7a80d7a3d
X:1407424 CSF2RA G>A	X	1407424	1407424	G	A	CSF2RA	c.232G>A	NM_001161529.1	NP_001155001.1:p.(Glu78Lys)	NC_000023.10:g.1407424G>A	(Likely) benign	1 lab	7454473781
2:179444412 TTN T>C	2	179444412	179444412	T	C	TTN	c.67512A>G	NM_001267550.1	NP_001254479.1:p.(Leu22504=)	NC_000002.11:g.179444412T>C	(Likely) benign	1 lab	74545f8c29
19:43411959 PSG6 C>G	19	43411959	43411959	C	G	PSG6	c.754G>C	NM_001031850.3	NP_001027020.1:p.(Glu252Gln)	NC_000019.9:g.43411959C>G	(Likely) benign	1 lab	7455384072
1:26384986 TRIM63 G>C	1	26384986	26384986	G	C	TRIM63	c.726C>G	NM_032588.3	NP_115977.2:p.(Ile242Met)	NC_000001.10:g.26384986G>C	(Likely) benign	1 lab	74555e80be
6:56391349 DST G>C	6	56391349	56391349	G	C	DST	c.11582C>G	NM_001144769.2	NP_001138241.1:p.(Ala3861Gly)	NC_000006.11:g.56391349G>C	VUS	1 lab	74572d9e0e
1:152284450 FLG C>T	1	152284450	152284450	C	T	FLG	c.2912G>A	NM_002016.1	NP_002007.1:p.(Arg971His)	NC_000001.10:g.152284450C>T	(Likely) benign	1 lab	745730a2e7
1:65775533 DNAJC6 T>A	1	65775533	65775533	T	A	DNAJC6	c.105T>A	NM_001256864.2	NP_001243793.1:p.(Val35=)	NC_000001.10:g.65775533T>A	VUS	1 lab	7457b75887
X:37664265 CYBB G>A	X	37664265	37664265	G	A	CYBB	c.1158G>A	NM_000397.3	NP_000388.2:p.(Ala386=)	NC_000023.10:g.37664265G>A	(Likely) benign	1 lab	745b5e126d
X:135405197 ADGRG4 C>T	X	135405197	135405197	C	T	ADGRG4	c.331C>T	NM_153834.3	NP_722576.3:p.(Arg111Cys)	NC_000023.10:g.135405197C>T	VUS	1 lab	745d121a41
11:8122138 TUB GC>G	11	8122138	8122143	GC	G	TUB	c.1210del	NM_177972.3	NP_813977.1:p.(Arg404AlafsTer8)	NC_000011.9:g.8122143del	(Likely) pathogenic	1 lab	745ddf7f8b
7:94040362 COL1A2 G>T	7	94040362	94040362	G	T	COL1A2	c.1252-6G>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94040362G>T	(Likely) benign	1 lab	745ef3f29e
15:33191075 FMN1 A>G	15	33191075	33191075	A	G	FMN1	c.3674T>C	NM_001277313.1	NP_001264242.1:p.(Val1225Ala)	NC_000015.9:g.33191075A>G	VUS	1 lab	745fb6b737
2:149247620 MBD5 G>T	2	149247620	149247620	G	T	MBD5	c.3720G>T	NM_018328.4	NP_060798.2:p.(Leu1240=)	NC_000002.11:g.149247620G>T	(Likely) benign	1 lab	74615afc63
10:105238542 CALHM3 C>T	10	105238542	105238542	C	T	CALHM3	c.248G>A	NM_001129742.1	NP_001123214.1:p.(Arg83Gln)	NC_000010.10:g.105238542C>T	VUS	1 lab	7461b1bf7b
20:58349376 PHACTR3 G>A	20	58349376	58349376	G	A	PHACTR3	c.1005G>A	NM_080672.5	NP_542403.1:p.(Arg335=)	NC_000020.10:g.58349376G>A	(Likely) benign	1 lab	74625b2424
10:102770314 PDZD7 TAC>T	10	102770314	102770316	TAC	T	PDZD7	c.2330_2331del	NM_001195263.2	NP_001182192.1:p.(Arg777GlnfsTer17)	NC_000010.10:g.102770315_102770316del	VUS	1 lab	7463473490
15:66782072 MAP2K1 G>A	15	66782072	66782072	G	A	MAP2K1	c.1039G>A	NM_002755.4	NP_002746.1:p.(Ala347Thr)	NC_000015.9:g.66782072G>A	VUS	1 lab	f7b2b5f3e5
20:62324637 RTEL1 G>C	20	62324637	62324637	G	C	RTEL1	c.2992+1G>C	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62324637G>C	(Likely) pathogenic	1 lab	7464291b6e
7:91871511 KRIT1 TA>T	7	91871511	91871519	TA	T	KRIT1	c.-2-61del	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91871519del	(Likely) benign	1 lab	7464b02771
11:64508555 RASGRP2 G>A	11	64508555	64508555	G	A	RASGRP2	c.240-4C>T	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64508555G>A	(Likely) benign	1 lab	746575ea2f
X:31515027 DMD G>A	X	31515027	31515027	G	A	DMD	c.8056C>T	NM_004010.3	NP_004001.1:p.(Arg2686Cys)	NC_000023.10:g.31515027G>A	VUS	1 lab	7465b4519f
X:153176236 ARHGAP4 G>A	X	153176236	153176236	G	A	ARHGAP4	c.1854C>T	NM_001164741.1	NP_001158213.1:p.(Ala618=)	NC_000023.10:g.153176236G>A	(Likely) benign	1 lab	7465d2e6f4
16:2131800 TSC2 G>A	16	2131800	2131800	G	A	TSC2	c.3814+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2131800G>A	(Likely) pathogenic	1 lab	746aa0c996
4:103514658 NFKB1 T>C	4	103514658	103514658	T	C	NFKB1	c.1143T>C	NM_003998.4	NP_003989.2:p.(Ala381=)	NC_000004.11:g.103514658T>C	(Likely) benign	1 lab	f7b30d4761
4:661768 PDE6B G>A	4	661768	661768	G	A	PDE6B	c.2476G>A	NM_000283.3	NP_000274.2:p.(Glu826Lys)	NC_000004.11:g.661768G>A	(Likely) benign	1 lab	746acee1c5
6:65303055 EYS C>A	6	65303055	65303055	C	A	EYS	c.3832G>T	NM_001292009.1	NP_001278938.1:p.(Ala1278Ser)	NC_000006.11:g.65303055C>A	(Likely) benign	1 lab	746afa3b30
8:145738814 RECQL4 G>A	8	145738814	145738814	G	A	RECQL4	c.2251C>T	NM_004260.3	NP_004251.3:p.(Arg751Trp)	NC_000008.10:g.145738814G>A	VUS	1 lab	746b1d0fb5
X:57619168 ZXDB A>C	X	57619168	57619168	A	C	ZXDB	c.687A>C	NM_007157.3	NP_009088.1:p.(Pro229=)	NC_000023.10:g.57619168A>C	(Likely) benign	1 lab	746d6502a4
3:9488796 SETD5 G>GA	3	9488796	9488798	G	GA	SETD5	c.1295dup	NM_001349451.1	NP_001336380.1:p.(Arg433AlafsTer12)	NC_000003.11:g.9488798dup	(Likely) pathogenic	1 lab	746e354d05
19:38960115 RYR1 C>CA	19	38960115	38960116	C	CA	RYR1	c.3728dup	NM_000540.2	NP_000531.2:p.(Phe1244ValfsTer2)	NC_000019.9:g.38960116dup	(Likely) pathogenic	1 lab	746f0d8c7e
20:31394053 DNMT3B G>A	20	31394053	31394053	G	A	DNMT3B	c.2340G>A	NM_006892.3	NP_008823.1:p.(Ser780=)	NC_000020.10:g.31394053G>A	(Likely) benign	1 lab	7470d636d2
1:43892438 SZT2 C>T	1	43892438	43892438	C	T	SZT2	c.3096C>T	NM_015284.3	NP_056099.3:p.(Val1032=)	NC_000001.10:g.43892438C>T	(Likely) benign	1 lab	747239b728
10:104679824 CNNM2 C>T	10	104679824	104679824	C	T	CNNM2	c.1587C>T	NM_017649.4	NP_060119.3:p.(Thr529=)	NC_000010.10:g.104679824C>T	(Likely) benign	1 lab	7472c04602
12:122817687 CLIP1 A>G	12	122817687	122817687	A	G	CLIP1	c.2714T>C	NM_001247997.1	NP_001234926.1:p.(Met905Thr)	NC_000012.11:g.122817687A>G	VUS	1 lab	7473bc995b
17:73752687 ITGB4 G>A	17	73752687	73752687	G	A	ITGB4	c.4886G>A	NM_000213.4	NP_000204.3:p.(Cys1629Tyr)	NC_000017.10:g.73752687G>A	VUS	1 lab	7476a22897
19:12921231 RNASEH2A G>A	19	12921231	12921231	G	A	RNASEH2A	c.637+13G>A	NM_006397.2	NP_006388.2:p.?	NC_000019.9:g.12921231G>A	(Likely) benign	1 lab	74774da915
19:6707228 C3 G>A	19	6707228	6707228	G	A	C3	c.2104C>T	NM_000064.2	NP_000055.2:p.(Pro702Ser)	NC_000019.9:g.6707228G>A	(Likely) benign	1 lab	74775b9b00
16:70852389 HYDIN G>A	16	70852389	70852389	G	A	HYDIN	c.14514C>T	NM_001270974.2	NP_001257903.1:p.(Ile4838=)	NC_000016.9:g.70852389G>A	(Likely) benign	1 lab	747766b639
X:107315963 VSIG1 A>G	X	107315963	107315963	A	G	VSIG1	c.577A>G	NM_001170553.1	NP_001164024.1:p.(Ile193Val)	NC_000023.10:g.107315963A>G	(Likely) benign	1 lab	7477fa7d33
1:161139699 PPOX T>C	1	161139699	161139699	T	C	PPOX	c.872T>C	NM_000309.4	NP_000300.1:p.(Leu291Pro)	NC_000001.10:g.161139699T>C	(Likely) pathogenic	1 lab	74788aab6b
1:116931561 ATP1A1 A>G	1	116931561	116931561	A	G	ATP1A1	c.674A>G	NM_001160233.1	NP_001153705.1:p.(Gln225Arg)	NC_000001.10:g.116931561A>G	(Likely) pathogenic	1 lab	747a810a84
1:22965716 C1QA G>A	1	22965716	22965716	G	A	C1QA	c.554G>A	NM_001347465.1	NP_001334394.1:p.(Arg185His)	NC_000001.10:g.22965716G>A	(Likely) benign	1 lab	747d9dc6e0
17:29661948 NF1 CAA>C	17	29661948	29661951	CAA	C	NF1	c.5907_5908del	NM_001042492.3	NP_001035957.1:p.(Arg1970SerfsTer6)	NC_000017.10:g.29661950_29661951del	(Likely) pathogenic	1 lab	747e286da0
15:44912553 SPG11 C>A	15	44912553	44912553	C	A	SPG11	c.2669G>T	NM_025137.3	NP_079413.3:p.(Arg890Leu)	NC_000015.9:g.44912553C>A	(Likely) benign	1 lab	747f99ec57
12:7045885 ATN1 ACAGCAACAGCAG>A	12	7045885	7045902	ACAGCAACAGCAG	A	ATN1	c.1461_1472del	NM_001007026.2	NP_001007027.1:p.(Gln499_Gln502del)	NC_000012.11:g.7045891_7045902del	(Likely) benign	1 lab	f7c8e04e28
22:24176362 SMARCB1 T>G	22	24176362	24176362	T	G	SMARCB1	c.1153T>G	NM_003073.3	NP_003064.2:p.(Trp385Gly)	NC_000022.10:g.24176362T>G	(Likely) pathogenic	1 lab	7480f611f8
3:10191493 VHL C>G	3	10191493	10191493	C	G	VHL	c.486C>G	NM_000551.3	NP_000542.1:p.(Cys162Trp)	NC_000003.11:g.10191493C>G	(Likely) pathogenic	1 lab	74816788a6
2:26696054 OTOF G>A	2	26696054	26696054	G	A	OTOF	c.3679C>T	NM_194248.2	NP_919224.1:p.(Arg1227Ter)	NC_000002.11:g.26696054G>A	(Likely) pathogenic	1 lab	7482ac2d10
2:86071665 ST3GAL5 G>A	2	86071665	86071665	G	A	ST3GAL5	c.862C>T	NM_003896.3	NP_003887.3:p.(Arg288Ter)	NC_000002.11:g.86071665G>A	(Likely) pathogenic	1 lab	7484512890
7:66098390 KCTD7 C>T	7	66098390	66098390	C	T	KCTD7	c.273C>T	NM_153033.4	NP_694578.1:p.(Ser91=)	NC_000007.13:g.66098390C>T	(Likely) benign	1 lab	74847e912e
11:88029364 CTSC TG>T	11	88029364	88029366	TG	T	CTSC	c.825del	NM_001814.6	NP_001805.4:p.(Asn276ThrfsTer8)	NC_000011.9:g.88029366del	(Likely) pathogenic	1 lab	f7c98bba14
5:52942163 NDUFS4 A>G	5	52942163	52942163	A	G	NDUFS4	c.278A>G	NM_002495.4	NP_002486.1:p.(Asn93Ser)	NC_000005.9:g.52942163A>G	VUS	1 lab	f7cb251ff9
5:176831893 F12 G>A	5	176831893	176831893	G	A	F12	c.552C>T	NM_000505.3	NP_000496.2:p.(Leu184=)	NC_000005.9:g.176831893G>A	(Likely) benign	1 lab	7485f3410a
13:101763529 NALCN G>A	13	101763529	101763529	G	A	NALCN	c.2241C>T	NM_052867.3	NP_443099.1:p.(Pro747=)	NC_000013.10:g.101763529G>A	(Likely) benign	1 lab	748755bb49
15:77046146 SCAPER T>C	15	77046146	77046146	T	C	SCAPER	c.1128+3A>G	NM_001145923.1	NP_001139395.1:p.?	NC_000015.9:g.77046146T>C	VUS	1 lab	7487ce41cc
11:119216575 MFRP G>A	11	119216575	119216575	G	A	MFRP	c.335C>T	NM_031433.3	NP_113621.1:p.(Thr112Met)	NC_000011.9:g.119216575G>A	VUS	1 lab	7488322b7d
19:46443652 NOVA2 G>A	19	46443652	46443652	G	A	NOVA2	c.948C>T	NM_002516.4	NP_002507.1:p.(Ala316=)	NC_000019.9:g.46443652G>A	(Likely) benign	1 lab	748832e5fc
6:31833748 SLC44A4 G>A	6	31833748	31833748	G	A	SLC44A4	c.1161C>T	NM_001178045.1	NP_001171516.1:p.(Cys387=)	NC_000006.11:g.31833748G>A	(Likely) benign	1 lab	7489298d2b
4:128814713 PLK4 G>A	4	128814713	128814713	G	A	PLK4	c.2368G>A	NM_014264.4	NP_055079.3:p.(Glu790Lys)	NC_000004.11:g.128814713G>A	VUS	1 lab	748b3e6d93
14:76425547 TGFB3 A>C	14	76425547	76425547	A	C	TGFB3	c.1222T>G	NM_003239.2	NP_003230.1:p.(Ser408Ala)	NC_000014.8:g.76425547A>C	VUS	1 lab	748becac57
11:6591260 DNHD1 G>A	11	6591260	6591260	G	A	DNHD1	c.12885G>A	NM_144666.2	NP_653267.2:p.(Gln4295=)	NC_000011.9:g.6591260G>A	(Likely) benign	1 lab	748c1c88d3
1:150531565 ADAMTSL4 G>A	1	150531565	150531565	G	A	ADAMTSL4	c.2756G>A	NM_001288608.1	NP_001275537.1:p.(Arg919Gln)	NC_000001.10:g.150531565G>A	VUS	1 lab	748f2aaa8b
9:139390697 NOTCH1 G>A	9	139390697	139390697	G	A	NOTCH1	c.7494C>T	NM_017617.5	NP_060087.3:p.(Pro2498=)	NC_000009.11:g.139390697G>A	(Likely) benign	1 lab	748f867cb1
1:154562352 ADAR C>T	1	154562352	154562352	C	T	ADAR	c.1664G>A	NM_001193495.2	NP_001180424.1:p.(Arg555Gln)	NC_000001.10:g.154562352C>T	(Likely) benign	1 lab	74907931b6
9:13147602 MPDZ C>T	9	13147602	13147602	C	T	MPDZ	c.3686G>A	NM_003829.4	NP_003820.2:p.(Arg1229Gln)	NC_000009.11:g.13147602C>T	VUS	1 lab	749358cc6e
17:38978740 KRT10 G>A	17	38978740	38978740	G	A	KRT10	c.98C>T	NM_000421.5	NP_000412.4:p.(Ser33Phe)	NC_000017.10:g.38978740G>A	(Likely) benign	1 lab	f7cb9e1df6
4:106196819 TET2 G>T	4	106196819	106196819	G	T	TET2	c.5152G>T	NM_001127208.2	NP_001120680.1:p.(Val1718Leu)	NC_000004.11:g.106196819G>T	(Likely) benign	1 lab	74948fbe38
2:232952370 DIS3L2 C>CA	2	232952370	232952371	C	CA	DIS3L2	c.541dup	NM_152383.4	NP_689596.4:p.(Ile181AsnfsTer8)	NC_000002.11:g.232952371dup	(Likely) pathogenic	1 lab	7494aee04b
2:171655351 ERICH2 A>G	2	171655351	171655351	A	G	ERICH2	c.1258A>G	NM_001290030.1	NP_001276959.1:p.(Ser420Gly)	NC_000002.11:g.171655351A>G	VUS	1 lab	7496990491
12:40740834 LRRK2 T>G	12	40740834	40740834	T	G	LRRK2	c.6280+109T>G	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40740834T>G	(Likely) benign	1 lab	7499c335c5
2:179391804 TTN G>C	2	179391804	179391804	G	C	TTN	c.107911C>G	NM_001267550.1	NP_001254479.1:p.(Leu35971Val)	NC_000002.11:g.179391804G>C	VUS	1 lab	7499f26e6a
12:111885591 SH2B3 C>T	12	111885591	111885591	C	T	SH2B3	c.1368C>T	NM_005475.2	NP_005466.1:p.(Val456=)	NC_000012.11:g.111885591C>T	(Likely) benign	1 lab	749a8de948
X:135278980 FHL1 T>C	X	135278980	135278980	T	C	FHL1	c.19T>C	NM_001159701.1	NP_001153173.1:p.(Ser7Pro)	NC_000023.10:g.135278980T>C	(Likely) benign	1 lab	749ae6f172
1:20977005 PINK1 A>AAGTT	1	20977005	20977011	A	AAGTT	PINK1	c.1570_1573dup	NM_032409.2	NP_115785.1:p.(Asp525ValfsTer38)	NC_000001.10:g.20977008_20977011dup	(Likely) pathogenic	1 lab	749bb28692
9:32550811 TOPORS C>G	9	32550811	32550811	C	G	TOPORS	c.159G>C	NM_005802.4	NP_005793.2:p.(Ala53=)	NC_000009.11:g.32550811C>G	(Likely) benign	1 lab	749bc5954e
2:74604856 DCTN1 G>A	2	74604856	74604856	G	A	DCTN1	c.280-3C>T	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74604856G>A	VUS	1 lab	749d572dbf
13:111142158 COL4A2 C>T	13	111142158	111142158	C	T	COL4A2	c.3346+26C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111142158C>T	(Likely) benign	1 lab	749db107d3
1:247582369 NLRP3 G>A	1	247582369	247582369	G	A	NLRP3	c.267G>A	NM_001243133.1	NP_001230062.1:p.(Glu89=)	NC_000001.10:g.247582369G>A	(Likely) benign	1 lab	749eda0a7b
11:134055361 NCAPD3 A>G	11	134055361	134055361	A	G	NCAPD3	c.2106T>C	NM_015261.2	NP_056076.1:p.(Phe702=)	NC_000011.9:g.134055361A>G	(Likely) benign	1 lab	749fdc443a
14:65261240 SPTB T>C	14	65261240	65261240	T	C	SPTB	c.1740A>G	NM_001024858.3	NP_001020029.1:p.(Gln580=)	NC_000014.8:g.65261240T>C	(Likely) benign	1 lab	74a219e9b8
4:85600232 WDFY3 G>A	4	85600232	85600232	G	A	WDFY3	c.9987C>T	NM_014991.4	NP_055806.2:p.(Asp3329=)	NC_000004.11:g.85600232G>A	(Likely) benign	1 lab	74a2865af7
1:22191454 HSPG2 G>A	1	22191454	22191454	G	A	HSPG2	c.4508C>T	NM_005529.7	NP_005520.4:p.(Ala1503Val)	NC_000001.10:g.22191454G>A	(Likely) benign	1 lab	f7cc33b2e3
5:1432776 SLC6A3 G>A	5	1432776	1432776	G	A	SLC6A3	c.456C>T	NM_001044.4	NP_001035.1:p.(Val152=)	NC_000005.9:g.1432776G>A	(Likely) benign	1 lab	74a66e08f1
6:152730248 SYNE1 GCTGAAATCACTA>G	6	152730248	152730263	GCTGAAATCACTA	G	SYNE1	c.6483_6494del	NM_182961.4	NP_892006.3:p.(Ser2162_Ser2165del)	NC_000006.11:g.152730252_152730263del	VUS	1 lab	f7cd727f8e
3:128199889 GATA2 C>T	3	128199889	128199889	C	T	GATA2	c.1416G>A	NM_001145661.1	NP_001139133.1:p.(Pro472=)	NC_000003.11:g.128199889C>T	(Likely) benign	1 lab	74a86478eb
6:29910538 HLA-A C>T	6	29910538	29910538	C	T	HLA-A	c.78C>T	NM_002116.8	NP_002107.3:p.(Ser26=)	NC_000006.11:g.29910538C>T	(Likely) benign	1 lab	f7d10de962
19:11339664 DOCK6 G>A	19	11339664	11339664	G	A	DOCK6	c.2766C>T	NM_020812.3	NP_065863.2:p.(Ala922=)	NC_000019.9:g.11339664G>A	(Likely) benign	1 lab	74ae42914d
3:46008285 FYCO1 T>C	3	46008285	46008285	T	C	FYCO1	c.2541A>G	NM_024513.3	NP_078789.2:p.(Gln847=)	NC_000003.11:g.46008285T>C	(Likely) benign	1 lab	74b02c05c1
17:15903249 TTC19 C>T	17	15903249	15903249	C	T	TTC19	c.87C>T	NM_017775.3	NP_060245.3:p.(Leu29=)	NC_000017.10:g.15903249C>T	(Likely) benign	1 lab	74b0778dbc
5:60628760 ZSWIM6 A>G	5	60628760	60628760	A	G	ZSWIM6	c.661A>G	NM_020928.1	NP_065979.1:p.(Asn221Asp)	NC_000005.9:g.60628760A>G	(Likely) benign	1 lab	74b15bbad9
21:45929158 TSPEAR CAT>C	21	45929158	45929161	CAT	C	TSPEAR	c.1676_1677del	NM_144991.3	NP_659428.2:p.(Tyr559CysfsTer134)	NC_000021.8:g.45929160_45929161del	(Likely) pathogenic	1 lab	74b2157d50
16:69726654 NFAT5 C>T	16	69726654	69726654	C	T	NFAT5	c.2644C>T	NM_138714.3	NP_619728.2:p.(Pro882Ser)	NC_000016.9:g.69726654C>T	(Likely) benign	1 lab	74b2de9b61
21:46896363 COL18A1 C>T	21	46896363	46896363	C	T	COL18A1	c.1437C>T	NM_030582.4	NP_085059.2:p.(Val479=)	NC_000021.8:g.46896363C>T	(Likely) benign	1 lab	74b56eade2
1:196684909 CFH G>C	1	196684909	196684909	G	C	CFH	c.1696+10G>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196684909G>C	(Likely) benign	1 lab	74b5d14f11
1:202985254 TMEM183A T>C	1	202985254	202985254	T	C	TMEM183A	c.694T>C	NM_138391.5	NP_612400.3:p.(Leu232=)	NC_000001.10:g.202985254T>C	(Likely) benign	1 lab	74b6244cfd
11:6661117 DCHS1 G>A	11	6661117	6661117	G	A	DCHS1				NC_000011.9:g.6661117G>A	(Likely) benign	1 lab	74b665ad46
6:74345161 SLC17A5 G>GT	6	74345161	74345166	G	GT	SLC17A5	c.762dup	NM_012434.4	NP_036566.1:p.(His255ThrfsTer8)	NC_000006.11:g.74345166dup	(Likely) pathogenic	1 lab	74b6b3fc63
10:73376984 CDH23 G>A	10	73376984	73376984	G	A	CDH23	c.968G>A	NM_022124.5	NP_071407.4:p.(Arg323His)	NC_000010.10:g.73376984G>A	VUS	1 lab	74babe36c7
12:54915012 NCKAP1L T>C	12	54915012	54915012	T	C	NCKAP1L	c.1868T>C	NM_005337.5	NP_005328.2:p.(Leu623Pro)	NC_000012.11:g.54915012T>C	VUS	1 lab	74bad330f6
1:152276197 FLG G>T	1	152276197	152276197	G	T	FLG	c.11165C>A	NM_002016.1	NP_002007.1:p.(Ser3722Tyr)	NC_000001.10:g.152276197G>T	VUS	1 lab	74bb51c408
2:211305370 LANCL1 A>G	2	211305370	211305370	A	G	LANCL1	c.642T>C	NM_006055.2	NP_006046.1:p.(Tyr214=)	NC_000002.11:g.211305370A>G	(Likely) benign	1 lab	74bbf55b3c
2:97427667 CNNM4 C>T	2	97427667	97427667	C	T	CNNM4	c.931C>T	NM_020184.3	NP_064569.3:p.(Leu311=)	NC_000002.11:g.97427667C>T	(Likely) benign	1 lab	74bd3d4be6
X:107402875 COL4A6 C>T	X	107402875	107402875	C	T	COL4A6	c.4680G>A	NM_001287758.1	NP_001274687.1:p.(Trp1560Ter)	NC_000023.10:g.107402875C>T	VUS	1 lab	74bd7fd504
5:90074814 ADGRV1 G>A	5	90074814	90074814	G	A	ADGRV1	c.12982G>A	NM_032119.4	NP_115495.3:p.(Glu4328Lys)	NC_000005.9:g.90074814G>A	VUS	1 lab	74be6597cd
16:23436244 COG7 C>T	16	23436244	23436244	C	T	COG7	c.835G>A	NM_153603.3	NP_705831.1:p.(Val279Ile)	NC_000016.9:g.23436244C>T	(Likely) benign	1 lab	74bffa248e
20:42887097 GDAP1L1 G>A	20	42887097	42887097	G	A	GDAP1L1	c.454G>A	NM_001256737.1	NP_001243666.1:p.(Glu152Lys)	NC_000020.10:g.42887097G>A	(Likely) benign	1 lab	74c071d243
3:51413184 DOCK3 G>A	3	51413184	51413184	G	A	DOCK3	c.5418G>A	NM_004947.4	NP_004938.1:p.(Pro1806=)	NC_000003.11:g.51413184G>A	(Likely) benign	1 lab	74c3b2700f
4:41748025 PHOX2B C>G	4	41748025	41748025	C	G	PHOX2B	c.744G>C	NM_003924.3	NP_003915.2:p.(Ala248=)	NC_000004.11:g.41748025C>G	(Likely) benign	1 lab	74c4611469
X:107841962 COL4A5 C>A	X	107841962	107841962	C	A	COL4A5	c.1810C>A	NM_033380.2	NP_203699.1:p.(Pro604Thr)	NC_000023.10:g.107841962C>A	(Likely) benign	1 lab	74c60e515a
2:49210116 FSHR G>A	2	49210116	49210116	G	A	FSHR	c.603C>T	NM_000145.3	NP_000136.2:p.(Ser201=)	NC_000002.11:g.49210116G>A	(Likely) benign	1 lab	74c7dc00f2
16:21737961 OTOA G>A	16	21737961	21737961	G	A	OTOA	c.1998G>A	NM_144672.4	NP_653273.3:p.(Arg666=)	NC_000016.9:g.21737961G>A	(Likely) benign	1 lab	74c89e0e82
1:237947118 RYR2 G>A	1	237947118	237947118	G	A	RYR2	c.12106G>A	NM_001035.2	NP_001026.2:p.(Asp4036Asn)	NC_000001.10:g.237947118G>A	VUS	1 lab	74c9114b30
10:124273780 HTRA1 G>C	10	124273780	124273780	G	C	HTRA1	c.1348G>C	NM_002775.4	NP_002766.1:p.(Asp450His)	NC_000010.10:g.124273780G>C	VUS	1 lab	74c94e67e2
3:129185786 IFT122 T>C	3	129185786	129185786	T	C	IFT122	c.770T>C	NM_052985.3	NP_443711.2:p.(Ile257Thr)	NC_000003.11:g.129185786T>C	(Likely) benign	1 lab	74cfdd7b37
1:20964269 PINK1 CCT>C	1	20964269	20964271	CCT	C	PINK1	c.388-65_388-64del	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20964270_20964271del	(Likely) benign	1 lab	74d08fc992
2:16082204 MYCN G>A	2	16082204	16082204	G	A	MYCN	c.292G>A	NM_001293233.1	NP_001280162.1:p.(Val98Ile)	NC_000002.11:g.16082204G>A	(Likely) benign	1 lab	74d15cf800
9:2653878 VLDLR C>T	9	2653878	2653878	C	T	VLDLR	c.*10C>T	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2653878C>T	(Likely) benign	1 lab	74d2786891
19:13409769 CACNA1A C>T	19	13409769	13409769	C	T	CACNA1A	c.2690G>A	NM_023035.2	NP_075461.2:p.(Arg897Gln)	NC_000019.9:g.13409769C>T	(Likely) benign	1 lab	74d2dd21b6
17:79503702 FSCN2 G>A	17	79503702	79503702	G	A	FSCN2	c.1232G>A	NM_001077182.2	NP_001070650.1:p.(Arg411His)	NC_000017.10:g.79503702G>A	VUS	1 lab	74d3e0240e
2:215880281 ABCA12 G>T	2	215880281	215880281	G	T	ABCA12	c.1889C>A	NM_173076.2	NP_775099.2:p.(Ser630Tyr)	NC_000002.11:g.215880281G>T	VUS	1 lab	74d5bbea04
5:140075410 HARS2 T>C	5	140075410	140075410	T	C	HARS2	c.613T>C	NM_012208.3	NP_036340.1:p.(Leu205=)	NC_000005.9:g.140075410T>C	(Likely) benign	1 lab	74d5c5ead6
5:82406873 XRCC4 G>A	5	82406873	82406873	G	A	XRCC4	c.166G>A	NM_022550.3	NP_072044.1:p.(Ala56Thr)	NC_000005.9:g.82406873G>A	VUS	1 lab	74d7deec0a
X:153220368 HCFC1 C>A	X	153220368	153220368	C	A	HCFC1	c.3482G>T	NM_005334.2	NP_005325.2:p.(Gly1161Val)	NC_000023.10:g.153220368C>A	VUS	1 lab	74d83b73ce
17:36584747 ARHGAP23 C>G	17	36584747	36584747	C	G	ARHGAP23	c.18C>G	NM_001199417.2	NP_001186346.1:p.(Phe6Leu)	NC_000017.10:g.36584747C>G	(Likely) benign	1 lab	74d9615c4b
10:72357976 PRF1 G>A	10	72357976	72357976	G	A	PRF1	c.1501C>T	NM_001083116.1	NP_001076585.1:p.(Pro501Ser)	NC_000010.10:g.72357976G>A	VUS	1 lab	74dae49174
9:101552823 ANKS6 C>T	9	101552823	101552823	C	T	ANKS6	c.425G>A	NM_173551.4	NP_775822.3:p.(Arg142Gln)	NC_000009.11:g.101552823C>T	VUS	1 lab	74daed7e80
12:81066976 MISSING A>G	12	81066976	81066976	A	G	MISSING				NC_000012.11:g.81066976A>G	VUS	1 lab	74dc2cc2d3
1:215956195 USH2A C>A	1	215956195	215956195	C	A	USH2A	c.10470G>T	NM_206933.2	NP_996816.2:p.(Val3490=)	NC_000001.10:g.215956195C>A	(Likely) benign	1 lab	74dd1a3702
17:8053122 PER1 G>A	17	8053122	8053122	G	A	PER1	c.602C>T	NM_002616.3	NP_002607.2:p.(Thr201Ile)	NC_000017.10:g.8053122G>A	VUS	1 lab	74ddf0c705
16:31202438 FUS CTT>C	16	31202438	31202441	CTT	C	FUS	c.1541+9_1541+10del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31202440_31202441del	(Likely) benign	1 lab	74ddfdaff5
19:1043377 ABCA7 C>T	19	1043377	1043377	C	T	ABCA7	c.835C>T	NM_019112.3	NP_061985.2:p.(Leu279=)	NC_000019.9:g.1043377C>T	(Likely) benign	1 lab	74dee28d29
11:64681846 ATG2A C>T	11	64681846	64681846	C	T	ATG2A	c.298G>A	NM_015104.3	NP_055919.2:p.(Gly100Ser)	NC_000011.9:g.64681846C>T	VUS	1 lab	74e1c72122
10:79785486 POLR3A G>C	10	79785486	79785486	G	C	POLR3A	c.212C>G	NM_007055.3	NP_008986.2:p.(Thr71Ser)	NC_000010.10:g.79785486G>C	VUS	1 lab	74e4d49918
X:153009133 ABCD1 C>A	X	153009133	153009133	C	A	ABCD1	c.2182C>A	NM_000033.3	NP_000024.2:p.(His728Asn)	NC_000023.10:g.153009133C>A	(Likely) benign	1 lab	74e4eacb68
3:4856860 ITPR1 CAGA>C	3	4856860	4856868	CAGA	C	ITPR1	c.7831_7833del	NM_001378452.1	NP_001365381.1:p.(Lys2611del)	NC_000003.11:g.4856866_4856868del	(Likely) pathogenic	1 lab	74e678c7e9
13:113718714 MCF2L C>T	13	113718714	113718714	C	T	MCF2L	c.580C>T	NM_001320815.1	NP_001307744.1:p.(Arg194Trp)	NC_000013.10:g.113718714C>T	VUS	1 lab	74e75fcc31
16:72138456 DHX38 C>G	16	72138456	72138456	C	G	DHX38	c.2082C>G	NM_014003.3	NP_054722.2:p.(Ala694=)	NC_000016.9:g.72138456C>G	(Likely) benign	1 lab	74e79f5d17
X:99661813 PCDH19 AGTCTTCTGC>A	X	99661813	99661822	AGTCTTCTGC	A	PCDH19	c.1774_1782del	NM_001184880.2	NP_001171809.1:p.(Ala592_Asp594del)	NC_000023.10:g.99661814_99661822del	VUS	1 lab	f7db0d1fa8
12:68043598 DYRK2 T>A	12	68043598	68043598	T	A	DYRK2	c.71T>A	NM_006482.2	NP_006473.2:p.(Val24Asp)	NC_000012.11:g.68043598T>A	VUS	1 lab	74ea0c3f17
X:66863125 AR G>T	X	66863125	66863125	G	T	AR	c.1644G>T	NM_000044.4	NP_000035.2:p.(Leu548Phe)	NC_000023.10:g.66863125G>T	VUS	1 lab	74eb856574
6:158549179 SERAC1 C>A	6	158549179	158549179	C	A	SERAC1	c.976G>T	NM_032861.3	NP_116250.3:p.(Ala326Ser)	NC_000006.11:g.158549179C>A	VUS	1 lab	74f1d4505b
7:105182994 RINT1 C>T	7	105182994	105182994	C	T	RINT1	c.413C>T	NM_021930.5	NP_068749.3:p.(Ala138Val)	NC_000007.13:g.105182994C>T	(Likely) benign	1 lab	74f2e4ffa8
X:70832329 GCNA G>A	X	70832329	70832329	G	A	GCNA	c.1875G>A	NM_052957.4	NP_443189.1:p.(Pro625=)	NC_000023.10:g.70832329G>A	(Likely) benign	1 lab	74f2f6c95a
16:2147776 PKD1 G>C	16	2147776	2147776	G	C	PKD1	c.10173C>G	NM_001009944.2	NP_001009944.2:p.(Ala3391=)	NC_000016.9:g.2147776G>C	(Likely) benign	1 lab	74f38bf327
2:16082276 MYCN G>C	2	16082276	16082276	G	C	MYCN	c.90G>C	NM_005378.5	NP_005369.2:p.(Pro30=)	NC_000002.11:g.16082276G>C	(Likely) benign	1 lab	74f3a05d26
7:141722121 MGAM C>T	7	141722121	141722121	C	T	MGAM	c.764C>T	NM_004668.2	NP_004659.2:p.(Ser255Phe)	NC_000007.13:g.141722121C>T	VUS	1 lab	74f5cc4603
X:50111951 DGKK T>C	X	50111951	50111951	T	C	DGKK	c.3804A>G	NM_001013742.3	NP_001013764.1:p.(Arg1268=)	NC_000023.10:g.50111951T>C	(Likely) benign	1 lab	74f60a2580
4:106395202 PPA2 G>T	4	106395202	106395202	G	T	PPA2	c.6C>A	NM_176869.2	NP_789845.1:p.(Ser2Arg)	NC_000004.11:g.106395202G>T	(Likely) benign	1 lab	74f63b8226
6:31936668 SKIC2 T>C	6	31936668	31936668	T	C	SKIC2	c.3201T>C	NM_006929.5	NP_008860.4:p.(Tyr1067=)	NC_000006.11:g.31936668T>C	(Likely) benign	1 lab	f7dc282bb0
4:186425685 PDLIM3 G>A	4	186425685	186425685	G	A	PDLIM3	c.849C>T	NM_014476.5	NP_055291.2:p.(Gly283=)	NC_000004.11:g.186425685G>A	(Likely) benign	1 lab	74f75f1d92
21:46875993 COL18A1 C>T	21	46875993	46875993	C	T	COL18A1	c.549C>T	NM_130444.3	NP_569711.2:p.(Thr183=)	NC_000021.8:g.46875993C>T	(Likely) benign	1 lab	74fa29d6f0
17:7592153 WRAP53 G>A	17	7592153	7592153	G	A	WRAP53	c.187G>A	NM_018081.2	NP_060551.2:p.(Val63Met)	NC_000017.10:g.7592153G>A	(Likely) benign	1 lab	74fa9990b2
17:46000363 SP2 A>G	17	46000363	46000363	A	G	SP2	c.1095A>G	NM_003110.6	NP_003101.3:p.(Thr365=)	NC_000017.10:g.46000363A>G	(Likely) benign	1 lab	74fb9509e2
X:63412634 AMER1 C>T	X	63412634	63412634	C	T	AMER1	c.533G>A	NM_152424.4	NP_689637.3:p.(Arg178His)	NC_000023.10:g.63412634C>T	VUS	1 lab	74fd9a1db6
2:131414690 POTEJ T>C	2	131414690	131414690	T	C	POTEJ	c.2357T>C	NM_001277083.1	NP_001264012.1:p.(Met786Thr)	NC_000002.11:g.131414690T>C	(Likely) benign	1 lab	74fdadb869
12:49690653 PRPH T>G	12	49690653	49690653	T	G	PRPH	c.703-19T>G	NM_006262.3	NP_006253.2:p.?	NC_000012.11:g.49690653T>G	(Likely) benign	1 lab	74ffffcba8
1:7721917 CAMTA1 G>A	1	7721917	7721917	G	A	CAMTA1	c.796G>A	NM_015215.3	NP_056030.1:p.(Gly266Ser)	NC_000001.10:g.7721917G>A	VUS	1 lab	75007bbd07
19:7591645 MCOLN1 A>G	19	7591645	7591645	A	G	MCOLN1	c.406-2A>G	NM_020533.3	NP_065394.1:p.?	NC_000019.9:g.7591645A>G	(Likely) pathogenic	1 lab	f7e056eadf
9:35546716 RUSC2 A>G	9	35546716	35546716	A	G	RUSC2	c.198A>G	NM_001135999.1	NP_001129471.1:p.(Leu66=)	NC_000009.11:g.35546716A>G	(Likely) benign	1 lab	7503bc1da3
17:29665156 NF1 A>G	17	29665156	29665156	A	G	NF1	c.6755A>G	NM_000267.3	NP_000258.1:p.(Lys2252Arg)	NC_000017.10:g.29665156A>G	(Likely) pathogenic	1 lab	7504603050
17:78013691 CCDC40 C>A	17	78013691	78013691	C	A	CCDC40	c.174C>A	NM_017950.3	NP_060420.2:p.(Thr58=)	NC_000017.10:g.78013691C>A	(Likely) benign	1 lab	7504c7578f
5:131008194 FNIP1 T>C	5	131008194	131008194	T	C	FNIP1	c.1943A>G	NM_133372.3	NP_588613.3:p.(Gln648Arg)	NC_000005.9:g.131008194T>C	(Likely) benign	1 lab	f7e33025e6
12:98927085 TMPO A>G	12	98927085	98927085	A	G	TMPO	c.1050A>G	NM_003276.2	NP_003267.1:p.(Gln350=)	NC_000012.11:g.98927085A>G	(Likely) benign	1 lab	7505f356be
X:110978321 ALG13 A>G	X	110978321	110978321	A	G	ALG13	c.2266A>G	NM_001257231.1	NP_001244160.1:p.(Thr756Ala)	NC_000023.10:g.110978321A>G	(Likely) benign	1 lab	7505f3d4da
2:233199186 DIS3L2 CTCT>C	2	233199186	233199193	CTCT	C	DIS3L2	c.2271_2273del	NM_152383.5	NP_689596.4:p.(Phe758del)	NC_000002.11:g.233199191_233199193del	VUS	1 lab	750877b1f6
15:28502276 HERC2 G>A	15	28502276	28502276	G	A	HERC2	c.2448C>T	NM_004667.5	NP_004658.3:p.(Ser816=)	NC_000015.9:g.28502276G>A	(Likely) benign	1 lab	7508789033
11:57428443 CLP1 C>T	11	57428443	57428443	C	T	CLP1	c.813C>T	NM_006831.2	NP_006822.1:p.(Pro271=)	NC_000011.9:g.57428443C>T	(Likely) benign	1 lab	750978eb39
12:48393780 COL2A1 C>T	12	48393780	48393780	C	T	COL2A1	c.214G>A	NM_001844.4	NP_001835.3:p.(Val72Met)	NC_000012.11:g.48393780C>T	(Likely) benign	1 lab	750a12daeb
20:43629904 STK4 A>G	20	43629904	43629904	A	G	STK4	c.1057A>G	NM_001352385.1	NP_001339314.1:p.(Thr353Ala)	NC_000020.10:g.43629904A>G	(Likely) benign	1 lab	750d1df494
15:38614593 SPRED1 T>TA	15	38614593	38614594	T	TA	SPRED1	c.360dup	NM_152594.2	NP_689807.1:p.(Glu121ArgfsTer13)	NC_000015.9:g.38614594dup	(Likely) pathogenic	1 lab	750d252639
6:1391131 FOXF2 G>A	6	1391131	1391131	G	A	FOXF2	c.949G>A	NM_001452.2	NP_001443.1:p.(Val317Ile)	NC_000006.11:g.1391131G>A	VUS	1 lab	750f87fc6b
13:40293396 COG6 T>G	13	40293396	40293396	T	G	COG6	c.1308T>G	NM_001145079.1	NP_001138551.1:p.(Leu436=)	NC_000013.10:g.40293396T>G	(Likely) benign	1 lab	750fbc32d7
11:66605858 TOP6BL G>A	11	66605858	66605858	G	A	TOP6BL	c.1689G>A	NM_024650.3	NP_078926.3:p.(Lys563=)	NC_000011.9:g.66605858G>A	(Likely) benign	1 lab	750ffb55ea
12:52867233 KRT6C C>T	12	52867233	52867233	C	T	KRT6C	c.289G>A	NM_173086.4	NP_775109.2:p.(Gly97Arg)	NC_000012.11:g.52867233C>T	(Likely) benign	1 lab	75101d2657
11:124764090 ROBO4 C>T	11	124764090	124764090	C	T	ROBO4	c.1318+7G>A	NM_019055.5	NP_061928.4:p.?	NC_000011.9:g.124764090C>T	(Likely) benign	1 lab	75104cd8a9
11:111657171 ALG9 T>C	11	111657171	111657171	T	C	ALG9	c.1198A>G	NM_001352422.1	NP_001339351.1:p.(Ile400Val)	NC_000011.9:g.111657171T>C	(Likely) benign	1 lab	75104d7729
11:92901336 SLC36A4 A>G	11	92901336	92901336	A	G	SLC36A4	c.137T>C	NM_001286139.1	NP_001273068.1:p.(Val46Ala)	NC_000011.9:g.92901336A>G	VUS	1 lab	7510cb68ba
13:47409731 HTR2A C>T	13	47409731	47409731	C	T	HTR2A	c.657G>A	NM_000621.4	NP_000612.1:p.(Ser219=)	NC_000013.10:g.47409731C>T	(Likely) benign	1 lab	7511749379
14:105415759 AHNAK2 G>A	14	105415759	105415759	G	A	AHNAK2	c.6029C>T	NM_138420.3	NP_612429.2:p.(Ser2010Leu)	NC_000014.8:g.105415759G>A	VUS	1 lab	751506b2b4
1:120539936 NOTCH2 C>G	1	120539936	120539936	C	G	NOTCH2	c.435G>C	NM_024408.4	NP_077719.2:p.(Thr145=)	NC_000001.10:g.120539936C>G	(Likely) benign	1 lab	f7e4cc6612
19:52249204 FPR1 C>T	19	52249204	52249204	C	T	FPR1	c.1044G>A	NM_001193306.1	NP_001180235.1:p.(Gln348=)	NC_000019.9:g.52249204C>T	(Likely) benign	1 lab	75157648a7
2:238244897 COL6A3 G>A	2	238244897	238244897	G	A	COL6A3	c.8846C>T	NM_004369.3	NP_004360.2:p.(Pro2949Leu)	NC_000002.11:g.238244897G>A	VUS	1 lab	7516c0a5cb
22:30050677 NF2 GGGGATTT>G	22	30050677	30050684	GGGGATTT	G	NF2	c.480_486del	NM_000268.4	NP_000259.1:p.(Gly161TrpfsTer11)	NC_000022.10:g.30050678_30050684del	(Likely) pathogenic	1 lab	7516f6f02a
4:103870499 SLC9B1 G>T	4	103870499	103870499	G	T	SLC9B1	c.297C>A	NM_139173.3	NP_631912.2:p.(Phe99Leu)	NC_000004.11:g.103870499G>T	(Likely) benign	1 lab	751a0b90c8
9:35700195 TLN1 G>A	9	35700195	35700195	G	A	TLN1	c.6653C>T	NM_006289.4	NP_006280.3:p.(Ala2218Val)	NC_000009.11:g.35700195G>A	(Likely) benign	1 lab	751b573cb1
16:31340609 ITGAM G>T	16	31340609	31340609	G	T	ITGAM	c.2856G>T	NM_001145808.1	NP_001139280.1:p.(Met952Ile)	NC_000016.9:g.31340609G>T	(Likely) benign	1 lab	751e65414f
11:71148939 DHCR7 G>T	11	71148939	71148939	G	T	DHCR7	c.882C>A	NM_001360.2	NP_001351.2:p.(Thr294=)	NC_000011.9:g.71148939G>T	(Likely) benign	1 lab	7520f30e67
14:75018993 LTBP2 C>A	14	75018993	75018993	C	A	LTBP2	c.1296G>T	NM_000428.2	NP_000419.1:p.(Pro432=)	NC_000014.8:g.75018993C>A	(Likely) benign	1 lab	7520f7d68b
17:29560110 NF1 T>G	17	29560110	29560110	T	G	NF1	c.3587T>G	NM_000267.3	NP_000258.1:p.(Leu1196Arg)	NC_000017.10:g.29560110T>G	(Likely) pathogenic	1 lab	7523d284d3
9:135201943 SETX T>C	9	135201943	135201943	T	C	SETX	c.5042A>G	NM_001351527.1	NP_001338456.1:p.(Tyr1681Cys)	NC_000009.11:g.135201943T>C	VUS	1 lab	75248f7284
19:36227735 KMT2B G>T	19	36227735	36227735	G	T	KMT2B	c.7297+7G>T	NM_014727.2	NP_055542.1:p.?	NC_000019.9:g.36227735G>T	(Likely) benign	1 lab	75255441a4
10:104459122 ARL3 G>A	10	104459122	104459122	G	A	ARL3	c.264+8C>T	NM_004311.4	NP_004302.1:p.?	NC_000010.10:g.104459122G>A	(Likely) benign	1 lab	752614e703
X:84526360 ZNF711 C>T	X	84526360	84526360	C	T	ZNF711	c.1950C>T	NM_001330574.1	NP_001317503.1:p.(Asp650=)	NC_000023.10:g.84526360C>T	(Likely) benign	1 lab	7527ec2566
1:6500753 ESPN C>T	1	6500753	6500753	C	T	ESPN	c.743C>T	NM_031475.3	NP_113663.2:p.(Ala248Val)	NC_000001.10:g.6500753C>T	VUS	1 lab	752c82e32c
X:133700567 PLAC1 C>G	X	133700567	133700567	C	G	PLAC1	c.146G>C	NM_001316888.1	NP_001303817.1:p.(Cys49Ser)	NC_000023.10:g.133700567C>G	(Likely) benign	1 lab	752cb35335
5:34945004 DNAJC21 G>C	5	34945004	34945004	G	C	DNAJC21	c.1016G>C	NM_194283.3	NP_919259.3:p.(Arg339Pro)	NC_000005.9:g.34945004G>C	VUS	1 lab	752df819d4
4:110673618 CFI G>T	4	110673618	110673618	G	T	CFI	c.964+6C>A	NM_001318057.1	NP_001304986.1:p.?	NC_000004.11:g.110673618G>T	(Likely) benign	1 lab	75301ebe46
7:107576014 LAMB1 G>C	7	107576014	107576014	G	C	LAMB1	c.4034C>G	NM_002291.2	NP_002282.2:p.(Thr1345Ser)	NC_000007.13:g.107576014G>C	VUS	1 lab	7530af108e
9:35722170 TLN1 G>A	9	35722170	35722170	G	A	TLN1	c.894C>T	NM_006289.4	NP_006280.3:p.(Tyr298=)	NC_000009.11:g.35722170G>A	(Likely) benign	1 lab	7531a7e53a
1:150967098 ANXA9 C>T	1	150967098	150967098	C	T	ANXA9	c.898C>T	NM_003568.3	NP_003559.2:p.(Arg300Ter)	NC_000001.10:g.150967098C>T	VUS	1 lab	75321941a1
1:200569169 KIF14 AAAT>A	1	200569169	200569176	AAAT	A	KIF14	c.2364+6_2364+8del	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200569174_200569176del	(Likely) benign	1 lab	7534b1697d
14:23854258 MYH6 TGGA>T	14	23854258	23854262	TGGA	T	MYH6	c.5164-11_5164-9del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23854260_23854262del	(Likely) benign	1 lab	75384f6453
X:91090751 PCDH11X A>G	X	91090751	91090751	A	G	PCDH11X	c.248A>G	NM_032968.4	NP_116750.1:p.(Glu83Gly)	NC_000023.10:g.91090751A>G	VUS	1 lab	753b5621f3
17:15930690 TTC19 C>T	17	15930690	15930690	C	T	TTC19	c.676C>T	NM_001271420.1	NP_001258349.1:p.(Arg226Ter)	NC_000017.10:g.15930690C>T	VUS	1 lab	753b6dde9d
19:7706707 STXBP2 C>G	19	7706707	7706707	C	G	STXBP2	c.579C>G	NM_001272034.1	NP_001258963.1:p.(Thr193=)	NC_000019.9:g.7706707C>G	(Likely) benign	1 lab	753b781cf8
4:47973101 CNGA1 G>A	4	47973101	47973101	G	A	CNGA1	c.17C>T	NM_001142564.1	NP_001136036.1:p.(Ser6Leu)	NC_000004.11:g.47973101G>A	(Likely) benign	1 lab	753d411403
17:6594140 SLC13A5 G>A	17	6594140	6594140	G	A	SLC13A5	c.1395C>T	NM_177550.4	NP_808218.1:p.(Asn465=)	NC_000017.10:g.6594140G>A	(Likely) benign	1 lab	753d51c1d0
X:54784941 ITIH6 G>A	X	54784941	54784941	G	A	ITIH6	c.1566C>T	NM_198510.2	NP_940912.1:p.(Ala522=)	NC_000023.10:g.54784941G>A	(Likely) benign	1 lab	753d6869e1
14:105920632 MTA1 G>A	14	105920632	105920632	G	A	MTA1	c.535G>A	NM_004689.3	NP_004680.2:p.(Asp179Asn)	NC_000014.8:g.105920632G>A	VUS	1 lab	753db96ebb
22:21065080 PI4KA G>A	22	21065080	21065080	G	A	PI4KA	c.5990C>T	NM_058004.3	NP_477352.3:p.(Thr1997Met)	NC_000022.10:g.21065080G>A	VUS	1 lab	753dc552d3
15:45654335 GATM C>T	15	45654335	45654335	C	T	GATM	c.857G>A	NM_001321015.1	NP_001307944.1:p.(Arg286Gln)	NC_000015.9:g.45654335C>T	VUS	1 lab	753f148c47
6:35278286 DEF6 G>A	6	35278286	35278286	G	A	DEF6	c.288G>A	NM_022047.4	NP_071330.3:p.(Thr96=)	NC_000006.11:g.35278286G>A	(Likely) benign	1 lab	753fd3c758
10:61832939 ANK3 C>A	10	61832939	61832939	C	A	ANK3	c.7700G>T	NM_020987.5	NP_066267.2:p.(Gly2567Val)	NC_000010.10:g.61832939C>A	VUS	1 lab	75407dc63d
15:48779519 FBN1 G>A	15	48779519	48779519	G	A	FBN1	c.3453C>T	NM_000138.4	NP_000129.3:p.(Ser1151=)	NC_000015.9:g.48779519G>A	(Likely) benign	1 lab	7541c5e65b
19:9060684 MUC16 G>T	19	9060684	9060684	G	T	MUC16	c.26762C>A	NM_024690.2	NP_078966.2:p.(Ala8921Asp)	NC_000019.9:g.9060684G>T	(Likely) benign	1 lab	7542fcc64a
20:35545189 SAMHD1 C>T	20	35545189	35545189	C	T	SAMHD1	c.998G>A	NM_015474.4	NP_056289.2:p.(Arg333His)	NC_000020.10:g.35545189C>T	VUS	1 lab	f7e74fc90b
14:88429779 GALC G>C	14	88429779	88429779	G	C	GALC	c.1110C>G	NM_000153.3	NP_000144.2:p.(Tyr370Ter)	NC_000014.8:g.88429779G>C	(Likely) pathogenic	1 lab	75479e17e0
11:6977662 ZNF215 C>T	11	6977662	6977662	C	T	ZNF215	c.1454C>T	NM_013250.4	NP_037382.2:p.(Thr485Met)	NC_000011.9:g.6977662C>T	VUS	1 lab	7547f4f610
9:111642368 ELP1 G>A	9	111642368	111642368	G	A	ELP1	c.3424C>T	NM_003640.3	NP_003631.2:p.(Arg1142Ter)	NC_000009.11:g.111642368G>A	VUS	1 lab	75496f53a8
5:44305201 FGF10 G>C	5	44305201	44305201	G	C	FGF10	c.523C>G	NM_004465.2	NP_004456.1:p.(Gln175Glu)	NC_000005.9:g.44305201G>C	VUS	1 lab	f894d6d457
X:122766721 THOC2 G>C	X	122766721	122766721	G	C	THOC2	c.2307C>G	NM_001081550.1	NP_001075019.1:p.(Leu769=)	NC_000023.10:g.122766721G>C	(Likely) benign	1 lab	754a6d6e03
13:28623920 FLT3 T>C	13	28623920	28623920	T	C	FLT3	c.743-9A>G	NM_004119.2	NP_004110.2:p.?	NC_000013.10:g.28623920T>C	(Likely) benign	1 lab	754a8873e2
6:70990705 COL9A1 A>AGCCCCCCGG	6	70990705	70990706	A	AGCCCCCCGG	COL9A1	c.912+1_912+2insCCGGGGGGC	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70990705_70990706insGCCCCCCGG	VUS	1 lab	754ae531a7
2:179474980 TTN C>T	2	179474980	179474980	C	T	TTN	c.51273G>A	NM_001267550.1	NP_001254479.1:p.(Arg17091=)	NC_000002.11:g.179474980C>T	(Likely) benign	1 lab	754bf694a3
19:3909558 ATCAY G>A	19	3909558	3909558	G	A	ATCAY	c.722G>A	NM_033064.4	NP_149053.1:p.(Arg241Gln)	NC_000019.9:g.3909558G>A	VUS	1 lab	754e12e8a0
12:105558019 WASHC4 C>G	12	105558019	105558019	C	G	WASHC4	c.3291C>G	NM_001293640.1	NP_001280569.1:p.(Ala1097=)	NC_000012.11:g.105558019C>G	(Likely) benign	1 lab	754eca4f09
10:104678367 CNNM2 G>A	10	104678367	104678367	G	A	CNNM2	c.130G>A	NM_017649.4	NP_060119.3:p.(Ala44Thr)	NC_000010.10:g.104678367G>A	(Likely) benign	1 lab	754fc33dec
2:152521867 NEB T>G	2	152521867	152521867	T	G	NEB	c.5218A>C	NM_001271208.1	NP_001258137.1:p.(Asn1740His)	NC_000002.11:g.152521867T>G	VUS	1 lab	75506e68a1
8:68028178 CSPP1 A>C	8	68028178	68028178	A	C	CSPP1	c.1302A>C	NM_024790.6	NP_079066.5:p.(Ala434=)	NC_000008.10:g.68028178A>C	(Likely) benign	1 lab	7551a29e46
19:42486247 ATP1A3 C>T	19	42486247	42486247	C	T	ATP1A3	c.1044G>A	NM_001256214.1	NP_001243143.1:p.(Thr348=)	NC_000019.9:g.42486247C>T	(Likely) benign	1 lab	7551a2dbc0
4:126400983 FAT4 T>C	4	126400983	126400983	T	C	FAT4	c.12567T>C	NM_001291303.1	NP_001278232.1:p.(His4189=)	NC_000004.11:g.126400983T>C	(Likely) benign	1 lab	75524577a4
12:49433924 KMT2D C>T	12	49433924	49433924	C	T	KMT2D	c.7629G>A	NM_003482.3	NP_003473.3:p.(Gly2543=)	NC_000012.11:g.49433924C>T	(Likely) benign	1 lab	7552859102
1:62739727 KANK4 G>A	1	62739727	62739727	G	A	KANK4	c.1049C>T	NM_181712.5	NP_859063.3:p.(Ser350Leu)	NC_000001.10:g.62739727G>A	(Likely) benign	1 lab	7552d059fe
3:48626879 COL7A1 G>A	3	48626879	48626879	G	A	COL7A1	c.2195C>T	NM_000094.4	NP_000085.1:p.(Ser732Phe)	NC_000003.11:g.48626879G>A	VUS	1 lab	f7eb872065
2:202490812 TMEM237 C>A	2	202490812	202490812	C	A	TMEM237	c.1096G>T	NM_001044385.2	NP_001037850.1:p.(Ala366Ser)	NC_000002.11:g.202490812C>A	(Likely) benign	1 lab	7553b52682
X:153051703 IDH3G G>A	X	153051703	153051703	G	A	IDH3G	c.1044C>T	NM_174869.2	NP_777358.1:p.(Ile348=)	NC_000023.10:g.153051703G>A	(Likely) benign	1 lab	755457c813
2:128377965 MYO7B C>A	2	128377965	128377965	C	A	MYO7B	c.3371C>A	NM_001080527.1	NP_001073996.1:p.(Thr1124Lys)	NC_000002.11:g.128377965C>A	(Likely) benign	1 lab	7557e20772
1:240371609 FMN2 C>T	1	240371609	240371609	C	T	FMN2	c.3497C>T	NM_020066.5	NP_064450.3:p.(Pro1166Leu)	NC_000001.10:g.240371609C>T	(Likely) benign	1 lab	75596df6f1
X:619497 SHOX A>C	X	619497	619497	A	C	SHOX	c.634-23A>C	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.619497A>C	(Likely) benign	1 lab	755a809da7
3:132235306 DNAJC13 G>A	3	132235306	132235306	G	A	DNAJC13	c.5541G>A	NM_001329126.1	NP_001316055.1:p.(Ser1847=)	NC_000003.11:g.132235306G>A	(Likely) benign	1 lab	755b42c8b2
4:186446251 PDLIM3 C>T	4	186446251	186446251	C	T	PDLIM3	c.168G>A	NM_014476.5	NP_055291.2:p.(Gly56=)	NC_000004.11:g.186446251C>T	(Likely) benign	1 lab	755c558885
1:201028417 CACNA1S T>G	1	201028417	201028417	T	G	CACNA1S	c.3425A>C	NM_000069.2	NP_000060.2:p.(Gln1142Pro)	NC_000001.10:g.201028417T>G	VUS	1 lab	755d47e1c4
4:6303062 WFS1 C>T	4	6303062	6303062	C	T	WFS1	c.1540C>T	NM_006005.3	NP_005996.2:p.(Leu514Phe)	NC_000004.11:g.6303062C>T	VUS	1 lab	755e7c5993
4:107154126 TBCK T>C	4	107154126	107154126	T	C	TBCK	c.1092A>G	NM_001290768.1	NP_001277697.1:p.(Val364=)	NC_000004.11:g.107154126T>C	(Likely) benign	1 lab	755f624e1f
9:134073915 NUP214 A>G	9	134073915	134073915	A	G	NUP214	c.5034A>G	NM_005085.3	NP_005076.3:p.(Ala1678=)	NC_000009.11:g.134073915A>G	(Likely) benign	1 lab	755fb8077e
22:42463769 NAGA G>A	22	42463769	42463769	G	A	NAGA	c.324C>T	NM_000262.2	NP_000253.1:p.(Tyr108=)	NC_000022.10:g.42463769G>A	(Likely) benign	1 lab	75600c92a2
21:19770577 TMPRSS15 G>A	21	19770577	19770577	G	A	TMPRSS15	c.215C>T	NM_002772.2	NP_002763.2:p.(Pro72Leu)	NC_000021.8:g.19770577G>A	VUS	1 lab	7560b08621
11:22271870 ANO5 A>G	11	22271870	22271870	A	G	ANO5	c.966A>G	NM_213599.2	NP_998764.1:p.(Leu322=)	NC_000011.9:g.22271870A>G	(Likely) benign	1 lab	7560e17a68
12:56397794 SUOX C>T	12	56397794	56397794	C	T	SUOX	c.621C>T	NM_000456.2	NP_000447.2:p.(Tyr207=)	NC_000012.11:g.56397794C>T	(Likely) benign	1 lab	756264ce70
10:90701131 ACTA2 A>G	10	90701131	90701131	A	G	ACTA2	c.471T>C	NM_001613.2	NP_001604.1:p.(Ser157=)	NC_000010.10:g.90701131A>G	(Likely) benign	1 lab	75635207d2
15:31330000 TRPM1 C>T	15	31330000	31330000	C	T	TRPM1	c.2536G>A	NM_001252020.1	NP_001238949.1:p.(Glu846Lys)	NC_000015.9:g.31330000C>T	VUS	1 lab	756524a3bd
1:120277341 PHGDH C>G	1	120277341	120277341	C	G	PHGDH	c.595C>G	NM_006623.3	NP_006614.2:p.(Leu199Val)	NC_000001.10:g.120277341C>G	(Likely) benign	1 lab	756749bb8a
7:107418627 SLC26A3 TC>T	7	107418627	107418629	TC	T	SLC26A3	c.1506del	NM_000111.3	NP_000102.1:p.(Thr503ProfsTer33)	NC_000007.13:g.107418629del	(Likely) pathogenic	1 lab	7567789b4a
15:62209840 VPS13C G>A	15	62209840	62209840	G	A	VPS13C	c.7761-6C>T	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62209840G>A	(Likely) benign	1 lab	75686a2884
18:6997824 LAMA1 C>T	18	6997824	6997824	C	T	LAMA1	c.4723G>A	NM_005559.3	NP_005550.2:p.(Val1575Ile)	NC_000018.9:g.6997824C>T	(Likely) benign	1 lab	757057d126
3:130714956 ATP2C1 G>A	3	130714956	130714956	G	A	ATP2C1	c.2126+1G>A	NM_001199179.1	NP_001186108.1:p.?	NC_000003.11:g.130714956G>A	(Likely) pathogenic	1 lab	7570ab0ae3
X:153219863 HCFC1 G>A	X	153219863	153219863	G	A	HCFC1	c.3987C>T	NM_005334.2	NP_005325.2:p.(Thr1329=)	NC_000023.10:g.153219863G>A	(Likely) benign	1 lab	7573e17a25
10:73439169 CDH23 A>C	10	73439169	73439169	A	C	CDH23	c.1778A>C	NM_022124.5	NP_071407.4:p.(Asn593Thr)	NC_000010.10:g.73439169A>C	VUS	1 lab	7574fdc4a4
17:4910202 KIF1C C>T	17	4910202	4910202	C	T	KIF1C	c.1166-8C>T	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4910202C>T	(Likely) benign	1 lab	75760d7745
11:130784506 SNX19 G>A	11	130784506	130784506	G	A	SNX19	c.1329C>T	NM_014758.2	NP_055573.2:p.(Ser443=)	NC_000011.9:g.130784506G>A	(Likely) benign	1 lab	75764cd98b
X:136112632 GPR101 A>G	X	136112632	136112632	A	G	GPR101	c.1202T>C	NM_054021.1	NP_473362.1:p.(Ile401Thr)	NC_000023.10:g.136112632A>G	VUS	1 lab	75764f85c4
19:47980152 KPTN C>T	19	47980152	47980152	C	T	KPTN	c.907G>A	NM_007059.3	NP_008990.2:p.(Gly303Ser)	NC_000019.9:g.47980152C>T	(Likely) benign	1 lab	7576685cf5
17:8814797 PIK3R5 G>A	17	8814797	8814797	G	A	PIK3R5	c.15C>T	NM_001142633.2	NP_001136105.1:p.(Ala5=)	NC_000017.10:g.8814797G>A	(Likely) benign	1 lab	7577dd1202
15:65257726 SPG21 G>T	15	65257726	65257726	G	T	SPG21	c.745C>A	NM_016630.6	NP_057714.1:p.(His249Asn)	NC_000015.9:g.65257726G>T	VUS	1 lab	757a213e9c
22:24917980 UPB1 G>A	22	24917980	24917980	G	A	UPB1	c.900G>A	NM_016327.2	NP_057411.1:p.(Ser300=)	NC_000022.10:g.24917980G>A	(Likely) benign	1 lab	757a64d495
9:135801029 TSC1 C>T	9	135801029	135801029	C	T	TSC1	c.308G>A	NM_000368.4	NP_000359.1:p.(Trp103Ter)	NC_000009.11:g.135801029C>T	(Likely) pathogenic	1 lab	757a7afc25
12:52408557 TAMALIN G>C	12	52408557	52408557	G	C	TAMALIN	c.762G>C	NM_181711.3	NP_859062.1:p.(Pro254=)	NC_000012.11:g.52408557G>C	(Likely) benign	1 lab	757dfd3880
21:46930010 COL18A1 A>G	21	46930010	46930010	A	G	COL18A1	c.3519A>G	NM_130445.2	NP_569712.2:p.(Ser1173=)	NC_000021.8:g.46930010A>G	(Likely) benign	1 lab	757e270747
5:167933841 RARS1 G>C	5	167933841	167933841	G	C	RARS1	c.1346+5G>C	NM_002887.3	NP_002878.2:p.?	NC_000005.9:g.167933841G>C	(Likely) benign	1 lab	757e5da766
1:235892919 LYST T>C	1	235892919	235892919	T	C	LYST	c.9083A>G	NM_001301365.1	NP_001288294.1:p.(Glu3028Gly)	NC_000001.10:g.235892919T>C	VUS	1 lab	757e96b022
16:20946732 DNAH3 C>T	16	20946732	20946732	C	T	DNAH3	c.11797G>A	NM_001347886.1	NP_001334815.1:p.(Val3933Ile)	NC_000016.9:g.20946732C>T	VUS	1 lab	757ef27636
21:47552456 COL6A2 G>A	21	47552456	47552456	G	A	COL6A2	c.3050G>A	NM_001849.4	NP_001840.3:p.(Trp1017Ter)	NC_000021.8:g.47552456G>A	VUS	1 lab	f7f00b8c7e
2:55561791 CCDC88A C>G	2	55561791	55561791	C	G	CCDC88A	c.2166G>C	NM_001135597.1	NP_001129069.1:p.(Gln722His)	NC_000002.11:g.55561791C>G	VUS	1 lab	7580c09374
11:124791203 HEPACAM T>G	11	124791203	124791203	T	G	HEPACAM	c.1082A>C	NM_152722.5	NP_689935.2:p.(Tyr361Ser)	NC_000011.9:g.124791203T>G	VUS	1 lab	f7f1bf34b0
1:197070830 ASPM A>G	1	197070830	197070830	A	G	ASPM	c.7551T>C	NM_018136.4	NP_060606.3:p.(Tyr2517=)	NC_000001.10:g.197070830A>G	(Likely) benign	1 lab	75849a3192
16:75674196 KARS1 C>G	16	75674196	75674196	C	G	KARS1	c.358G>C	NM_001130089.1	NP_001123561.1:p.(Glu120Gln)	NC_000016.9:g.75674196C>G	VUS	1 lab	7585a82d7a
17:29663897 NF1 ACT>A	17	29663897	29663903	ACT	A	NF1	c.6397_6398del	NM_001042492.3	NP_001035957.1:p.(Leu2133ValfsTer9)	NC_000017.10:g.29663902_29663903del	(Likely) pathogenic	1 lab	7586345634
4:78815401 MRPL1 C>T	4	78815401	78815401	C	T	MRPL1	c.667C>T	NM_020236.4	NP_064621.3:p.(Arg223Ter)	NC_000004.11:g.78815401C>T	VUS	1 lab	7587206171
5:126141389 LMNB1 G>GTAAC	5	126141389	126141395	G	GTAAC	LMNB1	c.642+4_642+7dup	NM_005573.3	NP_005564.1:p.?	NC_000005.9:g.126141392_126141395dup	(Likely) benign	1 lab	7589b5a5df
6:35474060 TULP1 T>C	6	35474060	35474060	T	C	TULP1	c.823-4A>G	NM_003322.5	NP_003313.3:p.?	NC_000006.11:g.35474060T>C	(Likely) benign	1 lab	7589c10b18
18:7049207 LAMA1 GGTGAAAGATC>G	18	7049207	7049219	GGTGAAAGATC	G	LAMA1	c.628_637del	NM_005559.4	NP_005550.2:p.(Asp210ProfsTer27)	NC_000018.9:g.7049210_7049219del	(Likely) pathogenic	1 lab	758a558715
X:47058476 UBA1 C>T	X	47058476	47058476	C	T	UBA1	c.147C>T	NM_003334.4	NP_003325.2:p.(Asp49=)	NC_000023.10:g.47058476C>T	(Likely) benign	1 lab	758a716222
17:36099634 HNF1B G>C	17	36099634	36099634	G	C	HNF1B	c.345-4C>G	NM_000458.3	NP_000449.1:p.?	NC_000017.10:g.36099634G>C	(Likely) benign	1 lab	758c29402f
1:245018334 HNRNPU G>A	1	245018334	245018334	G	A	HNRNPU	c.2365C>T	NM_031844.2	NP_114032.2:p.(Arg789Ter)	NC_000001.10:g.245018334G>A	(Likely) pathogenic	1 lab	758d3e6ac2
18:28648905 DSC2 G>A	18	28648905	28648905	G	A	DSC2	c.2463C>T	NM_024422.4	NP_077740.1:p.(Tyr821=)	NC_000018.9:g.28648905G>A	(Likely) benign	1 lab	758d4f4ed9
10:72195345 NODAL G>C	10	72195345	72195345	G	C	NODAL	c.588C>G	NM_018055.4	NP_060525.3:p.(Leu196=)	NC_000010.10:g.72195345G>C	(Likely) benign	1 lab	758e04df3b
1:29391549 EPB41 T>G	1	29391549	29391549	T	G	EPB41	c.1394T>G	NM_203342.2	NP_976217.1:p.(Leu465Arg)	NC_000001.10:g.29391549T>G	VUS	1 lab	7592671559
6:152542133 SYNE1 C>T	6	152542133	152542133	C	T	SYNE1	c.21705G>A	NM_182961.3	NP_892006.3:p.(Lys7235=)	NC_000006.11:g.152542133C>T	(Likely) benign	1 lab	75929d8208
20:33583169 MYH7B C>T	20	33583169	33583169	C	T	MYH7B	c.2857C>T	NM_020884.4	NP_065935.3:p.(Arg953Cys)	NC_000020.10:g.33583169C>T	VUS	1 lab	759334b31b
17:76117727 TMC6 C>A	17	76117727	76117727	C	A	TMC6	c.1293G>T	NM_001127198.2	NP_001120670.1:p.(Ala431=)	NC_000017.10:g.76117727C>A	(Likely) benign	1 lab	75934d4030
18:44140082 LOXHD1 C>T	18	44140082	44140082	C	T	LOXHD1	c.3025G>A	NM_144612.6	NP_653213.6:p.(Val1009Met)	NC_000018.9:g.44140082C>T	VUS	1 lab	7594183260
X:134991152 SAGE1 C>T	X	134991152	134991152	C	T	SAGE1	c.1571C>T	NM_018666.2	NP_061136.2:p.(Thr524Ile)	NC_000023.10:g.134991152C>T	VUS	1 lab	7595b61e4a
11:133807380 MISSING G>A	11	133807380	133807380	G	A	MISSING				NC_000011.9:g.133807380G>A	(Likely) benign	1 lab	7597e2c682
2:47202150 TTC7A C>T	2	47202150	47202150	C	T	TTC7A	c.556C>T	NM_001288951.1	NP_001275880.1:p.(Arg186Cys)	NC_000002.11:g.47202150C>T	VUS	1 lab	7599504177
17:40762111 TUBG1 G>T	17	40762111	40762111	G	T	TUBG1	c.50-15G>T	NM_001070.4	NP_001061.2:p.?	NC_000017.10:g.40762111G>T	(Likely) benign	1 lab	759c3576df
16:2096202 NTHL1 A>G	16	2096202	2096202	A	G	NTHL1	c.281T>C	NM_002528.7	NP_002519.2:p.(Met94Thr)	NC_000016.9:g.2096202A>G	VUS	1 lab	759c752eab
1:3328499 PRDM16 G>C	1	3328499	3328499	G	C	PRDM16	c.1738G>C	NM_022114.4	NP_071397.3:p.(Glu580Gln)	NC_000001.10:g.3328499G>C	VUS	1 lab	f80a3c99b9
4:995803 IDUA G>A	4	995803	995803	G	A	IDUA	c.826G>A	NM_000203.5	NP_000194.2:p.(Glu276Lys)	NC_000004.11:g.995803G>A	(Likely) pathogenic	1 lab	75a02027d4
11:92568210 FAT3 T>A	11	92568210	92568210	T	A	FAT3	c.10046T>A	NM_001008781.2	NP_001008781.2:p.(Val3349Asp)	NC_000011.9:g.92568210T>A	VUS	1 lab	75a13f30b2
7:42063131 GLI3 T>C	7	42063131	42063131	T	C	GLI3	c.1433A>G	NM_000168.5	NP_000159.3:p.(Tyr478Cys)	NC_000007.13:g.42063131T>C	VUS	1 lab	75a16f78f1
15:40913829 KNL1 A>G	15	40913829	40913829	A	G	KNL1	c.1445A>G	NM_170589.4	NP_733468.3:p.(Asp482Gly)	NC_000015.9:g.40913829A>G	(Likely) benign	1 lab	75a28c6a05
22:51117039 MISSING C>T	22	51117039	51117039	C	T	MISSING				NC_000022.10:g.51117039C>T	(Likely) benign	1 lab	75a3dbcbdb
X:102974152 GLRA4 C>T	X	102974152	102974152	C	T	GLRA4	c.766G>A	NM_001172285.1	NP_001165756.1:p.(Gly256Ser)	NC_000023.10:g.102974152C>T	VUS	1 lab	75a4a94996
15:65702540 IGDCC4 T>C	15	65702540	65702540	T	C	IGDCC4	c.539A>G	NM_020962.3	NP_066013.1:p.(Gln180Arg)	NC_000015.9:g.65702540T>C	(Likely) benign	1 lab	75a4f13166
12:56115528 RDH5 A>G	12	56115528	56115528	A	G	RDH5	c.366A>G	NM_001199771.1	NP_001186700.1:p.(Pro122=)	NC_000012.11:g.56115528A>G	(Likely) benign	1 lab	75a90fc8b0
6:88255341 RARS2 C>T	6	88255341	88255341	C	T	RARS2	c.528G>A	NM_020320.5	NP_064716.2:p.(Met176Ile)	NC_000006.11:g.88255341C>T	(Likely) benign	1 lab	f80c721089
11:70200477 PPFIA1 C>G	11	70200477	70200477	C	G	PPFIA1	c.2234C>G	NM_003626.3	NP_003617.1:p.(Ser745Cys)	NC_000011.9:g.70200477C>G	VUS	1 lab	75ab0510be
17:4910259 KIF1C A>G	17	4910259	4910259	A	G	KIF1C	c.1215A>G	NM_006612.5	NP_006603.2:p.(Ser405=)	NC_000017.10:g.4910259A>G	(Likely) benign	1 lab	75accb0e0d
1:26524504 CATSPER4 G>T	1	26524504	26524504	G	T	CATSPER4	c.614G>T	NM_198137.1	NP_937770.1:p.(Arg205Leu)	NC_000001.10:g.26524504G>T	VUS	1 lab	75aea0d98b
7:107302228 SLC26A4 G>T	7	107302228	107302228	G	T	SLC26A4	c.142G>T	NM_000441.1	NP_000432.1:p.(Glu48Ter)	NC_000007.13:g.107302228G>T	(Likely) pathogenic	1 lab	75b0c6337d
X:152939588 PNCK G>A	X	152939588	152939588	G	A	PNCK	c.43C>T	NM_001039582.3	NP_001034671.3:p.(Arg15Trp)	NC_000023.10:g.152939588G>A	(Likely) benign	1 lab	75b1b26813
13:100637831 ZIC2 CGGCGGCGGGGCG>C	13	100637831	100637853	CGGCGGCGGGGCG	C	ZIC2	c.1505_1516del	NM_007129.5	NP_009060.2:p.(Ala502_Gly505del)	NC_000013.10:g.100637842_100637853del	VUS	1 lab	75b2966796
8:143822694 SLURP1 T>C	8	143822694	143822694	T	C	SLURP1	c.179A>G	NM_020427.2	NP_065160.1:p.(Glu60Gly)	NC_000008.10:g.143822694T>C	VUS	1 lab	75b3267e55
12:57960902 KIF5A C>T	12	57960902	57960902	C	T	KIF5A	c.502-7C>T	NM_004984.3	NP_004975.2:p.?	NC_000012.11:g.57960902C>T	(Likely) benign	1 lab	75b3c1cf12
X:44970645 KDM6A G>A	X	44970645	44970645	G	A	KDM6A	c.4351G>A	NM_001291415.1	NP_001278344.1:p.(Ala1451Thr)	NC_000023.10:g.44970645G>A	(Likely) benign	1 lab	75b611d973
X:77301039 ATP7A CTG>C	X	77301039	77301042	CTG	C	ATP7A	c.4198_4199del	NM_000052.7	NP_000043.4:p.(Val1400SerfsTer8)	NC_000023.10:g.77301041_77301042del	(Likely) pathogenic	1 lab	75b713f6f4
2:170097790 LRP2 A>G	2	170097790	170097790	A	G	LRP2	c.3753T>C	NM_004525.3	NP_004516.2:p.(Asp1251=)	NC_000002.11:g.170097790A>G	(Likely) benign	1 lab	75b77b94ee
12:88530494 CEP290 G>A	12	88530494	88530494	G	A	CEP290	c.367C>T	NM_025114.3	NP_079390.3:p.(Gln123Ter)	NC_000012.11:g.88530494G>A	(Likely) pathogenic	1 lab	75b8d6f613
2:234669122 UGT1A1 C>T	2	234669122	234669122	C	T	UGT1A1	c.189C>T	NM_000463.2	NP_000454.1:p.(Asp63=)	NC_000002.11:g.234669122C>T	(Likely) benign	1 lab	75ba9a4cbf
1:186277845 PRG4 GAACA>G	1	186277845	186277852	GAACA	G	PRG4	c.2998_3001del	NM_005807.6	NP_005798.3:p.(Lys1000LeufsTer43)	NC_000001.10:g.186277849_186277852del	VUS	1 lab	75bc3ef981
17:29556994 NF1 T>C	17	29556994	29556994	T	C	NF1	c.2990+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556994T>C	(Likely) pathogenic	1 lab	75bd0ae68b
12:133196474 P2RX2 C>A	12	133196474	133196474	C	A	P2RX2	c.426C>A	NM_001282165.1	NP_001269094.1:p.(Cys142Ter)	NC_000012.11:g.133196474C>A	VUS	1 lab	75bd1e75be
17:2298312 MNT G>C	17	2298312	2298312	G	C	MNT	c.510C>G	NM_020310.3	NP_064706.1:p.(Pro170=)	NC_000017.10:g.2298312G>C	(Likely) benign	1 lab	75bd2bf3ae
2:45169506 SIX3 C>T	2	45169506	45169506	C	T	SIX3	c.263C>T	NM_005413.3	NP_005404.1:p.(Ser88Leu)	NC_000002.11:g.45169506C>T	(Likely) benign	1 lab	75bd8658e7
4:90755065 MISSING 90806046>DEL	4	90755065	90806046	90806046	DEL	MISSING				NC_000004.11:g.90755065_90806046del	VUS	1 lab	f80ff57176
22:39626102 PDGFB G>C	22	39626102	39626102	G	C	PDGFB	c.588C>G	NM_002608.3	NP_002599.1:p.(Ser196=)	NC_000022.10:g.39626102G>C	(Likely) benign	1 lab	75be1ecfe8
14:23895266 MYH7 A>C	14	23895266	23895266	A	C	MYH7	c.2069T>G	NM_000257.4	NP_000248.2:p.(Met690Arg)	NC_000014.8:g.23895266A>C	VUS	1 lab	f810cd35a0
12:117768443 NOS1 T>C	12	117768443	117768443	T	C	NOS1	c.432A>G	NM_001204218.1	NP_001191147.1:p.(Glu144=)	NC_000012.11:g.117768443T>C	(Likely) benign	1 lab	75bf084bec
22:19471533 CDC45 G>T	22	19471533	19471533	G	T	CDC45	c.486+5G>T	NM_001178010.2	NP_001171481.1:p.?	NC_000022.10:g.19471533G>T	VUS	1 lab	75bf43380b
13:46543484 ZC3H13 A>G	13	46543484	46543484	A	G	ZC3H13	c.3195T>C	NM_001330566.1	NP_001317495.1:p.(Ser1065=)	NC_000013.10:g.46543484A>G	(Likely) benign	1 lab	75bf7707dc
16:1842222 IGFALS G>T	16	1842222	1842222	G	T	IGFALS	c.197C>A	NM_004970.2	NP_004961.1:p.(Thr66Lys)	NC_000016.9:g.1842222G>T	VUS	1 lab	9a1d76d2d7
11:67816617 TCIRG1 C>T	11	67816617	67816617	C	T	TCIRG1	c.1743C>T	NM_006019.4	NP_006010.2:p.(Phe581=)	NC_000011.9:g.67816617C>T	(Likely) benign	1 lab	f813bc33ab
16:72830160 ZFHX3 G>A	16	72830160	72830160	G	A	ZFHX3	c.6421C>T	NM_006885.3	NP_008816.3:p.(Leu2141Phe)	NC_000016.9:g.72830160G>A	VUS	1 lab	75c29ebec1
12:53186590 KRT3 C>T	12	53186590	53186590	C	T	KRT3	c.928G>A	NM_057088.2	NP_476429.2:p.(Asp310Asn)	NC_000012.11:g.53186590C>T	VUS	1 lab	75c398c809
1:16375547 CLCNKB G>A	1	16375547	16375547	G	A	CLCNKB	c.81G>A	NM_001165945.2	NP_001159417.2:p.(Trp27Ter)	NC_000001.10:g.16375547G>A	VUS	1 lab	75c39f4370
16:70977754 HYDIN C>T	16	70977754	70977754	C	T	HYDIN	c.6630G>A	NM_001270974.2	NP_001257903.1:p.(Pro2210=)	NC_000016.9:g.70977754C>T	(Likely) benign	1 lab	75c515bce1
17:36482977 GPR179 T>C	17	36482977	36482977	T	C	GPR179	c.6475A>G	NM_001004334.3	NP_001004334.3:p.(Lys2159Glu)	NC_000017.10:g.36482977T>C	(Likely) benign	1 lab	75c5680efb
9:123280950 CDK5RAP2 T>C	9	123280950	123280950	T	C	CDK5RAP2	c.1093-27A>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123280950T>C	(Likely) benign	1 lab	75c612523b
1:878744 SAMD11 G>C	1	878744	878744	G	C	SAMD11	c.1676G>C	NM_152486.3	NP_689699.2:p.(Gly559Ala)	NC_000001.10:g.878744G>C	(Likely) benign	1 lab	75c61c8832
12:52865851 KRT6C T>G	12	52865851	52865851	T	G	KRT6C	c.754A>C	NM_173086.4	NP_775109.2:p.(Lys252Gln)	NC_000012.11:g.52865851T>G	VUS	1 lab	75c7209bb2
16:68719183 CDH3 C>T	16	68719183	68719183	C	T	CDH3	c.1500C>T	NM_001317195.1	NP_001304124.1:p.(Thr500=)	NC_000016.9:g.68719183C>T	(Likely) benign	1 lab	75ca2ae92f
19:41117215 LTBP4 C>T	19	41117215	41117215	C	T	LTBP4	c.2169C>T	NM_001042544.1	NP_001036009.1:p.(Pro723=)	NC_000019.9:g.41117215C>T	(Likely) benign	1 lab	75ccf31f6a
20:35689576 RBL1 C>T	20	35689576	35689576	C	T	RBL1	c.1180G>A	NM_002895.4	NP_002886.2:p.(Val394Met)	NC_000020.10:g.35689576C>T	VUS	1 lab	75ce8e1805
9:2651385 VLDLR T>C	9	2651385	2651385	T	C	VLDLR	c.2252-30T>C	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2651385T>C	(Likely) benign	1 lab	75cfb1f570
6:118880109 PLN C>T	6	118880109	118880109	C	T	PLN	c.25C>T	NM_002667.3	NP_002658.1:p.(Arg9Cys)	NC_000006.11:g.118880109C>T	(Likely) pathogenic	1 lab	75cff1f57d
3:11072864 SLC6A1 G>T	3	11072864	11072864	G	T	SLC6A1	c.1325G>T	NM_003042.3	NP_003033.3:p.(Gly442Val)	NC_000003.11:g.11072864G>T	VUS	1 lab	75d0429a76
3:10206678 IRAK2 G>A	3	10206678	10206678	G	A	IRAK2	c.40G>A	NM_001570.4	NP_001561.3:p.(Asp14Asn)	NC_000003.11:g.10206678G>A	VUS	1 lab	75d067ddd5
9:101542517 ANKS6 T>C	9	101542517	101542517	T	C	ANKS6	c.1322A>G	NM_173551.4	NP_775822.3:p.(Gln441Arg)	NC_000009.11:g.101542517T>C	VUS	1 lab	75d157fa07
4:113568686 LARP7 A>T	4	113568686	113568686	A	T	LARP7	c.999A>T	NM_001267039.1	NP_001253968.1:p.(Glu333Asp)	NC_000004.11:g.113568686A>T	(Likely) benign	1 lab	75d30bc06f
15:48744769 FBN1 T>C	15	48744769	48744769	T	C	FBN1	c.5535A>G	NM_000138.4	NP_000129.3:p.(Gly1845=)	NC_000015.9:g.48744769T>C	(Likely) benign	1 lab	75d391d343
8:110474092 PKHD1L1 T>C	8	110474092	110474092	T	C	PKHD1L1	c.7338T>C	NM_177531.6	NP_803875.2:p.(Pro2446=)	NC_000008.10:g.110474092T>C	(Likely) benign	1 lab	75d44e69e4
6:32038118 TNXB G>A	6	32038118	32038118	G	A	TNXB	c.5064C>T	NM_019105.6	NP_061978.6:p.(Asp1688=)	NC_000006.11:g.32038118G>A	(Likely) benign	1 lab	75d455f28d
1:175365861 TNR C>T	1	175365861	175365861	C	T	TNR	c.1059G>A	NM_003285.2	NP_003276.3:p.(Thr353=)	NC_000001.10:g.175365861C>T	(Likely) benign	1 lab	75d486ca60
17:27068505 NEK8 C>T	17	27068505	27068505	C	T	NEK8	c.1966C>T	NM_178170.3	NP_835464.1:p.(Arg656Trp)	NC_000017.10:g.27068505C>T	VUS	1 lab	75d4a0e551
18:56204945 ALPK2 C>G	18	56204945	56204945	C	G	ALPK2	c.2474G>C	NM_052947.4	NP_443179.3:p.(Arg825Thr)	NC_000018.9:g.56204945C>G	(Likely) benign	1 lab	75d5b3d254
11:71726562 NUMA1 G>A	11	71726562	71726562	G	A	NUMA1	c.1987C>T	NM_001286561.1	NP_001273490.1:p.(Arg663Cys)	NC_000011.9:g.71726562G>A	(Likely) benign	1 lab	75d5cd3051
12:110824191 ANAPC7 T>G	12	110824191	110824191	T	G	ANAPC7	c.860A>C	NM_016238.2	NP_057322.2:p.(Asn287Thr)	NC_000012.11:g.110824191T>G	(Likely) benign	1 lab	75d76dd49f
7:133848273 LRGUK T>A	7	133848273	133848273	T	A	LRGUK	c.920T>A	NM_144648.2	NP_653249.1:p.(Ile307Asn)	NC_000007.13:g.133848273T>A	(Likely) benign	1 lab	75d8660b8c
19:51890473 LIM2 C>T	19	51890473	51890473	C	T	LIM2	c.225G>A	NM_030657.3	NP_085915.2:p.(Ala75=)	NC_000019.9:g.51890473C>T	(Likely) benign	1 lab	75d91ed82d
1:22178126 HSPG2 G>A	1	22178126	22178126	G	A	HSPG2	c.7074C>T	NM_001291860.1	NP_001278789.1:p.(Thr2358=)	NC_000001.10:g.22178126G>A	(Likely) benign	1 lab	75dc6adf11
5:140056691 HARS1 G>T	5	140056691	140056691	G	T	HARS1	c.834C>A	NM_002109.6	NP_002100.2:p.(Ser278=)	NC_000005.9:g.140056691G>T	(Likely) benign	1 lab	75de5a58eb
X:152226684 PNMA3 G>C	X	152226684	152226684	G	C	PNMA3	c.1272G>C	NM_013364.5	NP_037496.4:p.(Arg424Ser)	NC_000023.10:g.152226684G>C	(Likely) benign	1 lab	75deefa5ab
17:41246337 BRCA1 T>TA	17	41246337	41246338	T	TA	BRCA1	c.1210_1211insT	NM_007294.4	NP_009225.1:p.(Glu404ValfsTer8)	NC_000017.10:g.41246337_41246338insA	(Likely) pathogenic	1 lab	f814803bb4
5:139892433 ANKHD1-EIF4EBP3 A>G	5	139892433	139892433	A	G	ANKHD1-EIF4EBP3	c.4125A>G	NM_020690.5	NP_065741.3:p.(Gln1375=)	NC_000005.9:g.139892433A>G	(Likely) benign	1 lab	75e07f1fdc
10:129904350 MKI67 G>A	10	129904350	129904350	G	A	MKI67	c.5754C>T	NM_002417.4	NP_002408.3:p.(Asn1918=)	NC_000010.10:g.129904350G>A	(Likely) benign	1 lab	75e1a2893c
2:163128880 IFIH1 T>G	2	163128880	163128880	T	G	IFIH1	c.2472A>C	NM_022168.4	NP_071451.2:p.(Arg824Ser)	NC_000002.11:g.163128880T>G	VUS	1 lab	75e25cfeec
X:11316997 AMELX G>A	X	11316997	11316997	G	A	AMELX	c.516G>A	NM_182680.1	NP_872621.1:p.(Leu172=)	NC_000023.10:g.11316997G>A	(Likely) benign	1 lab	f816a54e33
15:74474761 STRA6 C>T	15	74474761	74474761	C	T	STRA6	c.1341G>A	NM_022369.4	NP_071764.3:p.(Thr447=)	NC_000015.9:g.74474761C>T	(Likely) benign	1 lab	f81704a32a
11:74911354 SLCO2B1 T>G	11	74911354	74911354	T	G	SLCO2B1	c.1685T>G	NM_007256.4	NP_009187.1:p.(Val562Gly)	NC_000011.9:g.74911354T>G	VUS	1 lab	75e3ececc5
1:11106942 MASP2 C>T	1	11106942	11106942	C	T	MASP2	c.234+6G>A	NM_006610.3	NP_006601.2:p.?	NC_000001.10:g.11106942C>T	(Likely) benign	1 lab	75e4601b5e
11:6636686 TPP1 C>T	11	6636686	6636686	C	T	TPP1	c.1253G>A	NM_000391.3	NP_000382.3:p.(Arg418Gln)	NC_000011.9:g.6636686C>T	(Likely) benign	1 lab	75e49d7d63
21:37833699 CLDN14 C>T	21	37833699	37833699	C	T	CLDN14	c.295G>A	NM_144492.2	NP_652763.1:p.(Val99Ile)	NC_000021.8:g.37833699C>T	VUS	1 lab	75e5c73f76
2:63605535 WDPCP G>C	2	63605535	63605535	G	C	WDPCP	c.1734C>G	NM_015910.6	NP_056994.3:p.(Phe578Leu)	NC_000002.11:g.63605535G>C	VUS	1 lab	75e608ac0a
X:128692889 OCRL A>G	X	128692889	128692889	A	G	OCRL	c.636A>G	NM_001318784.1	NP_001305713.1:p.(Val212=)	NC_000023.10:g.128692889A>G	(Likely) benign	1 lab	75e76a40c1
10:96702075 CYP2C9 T>C	10	96702075	96702075	T	C	CYP2C9	c.458T>C	NM_000771.4	NP_000762.2:p.(Val153Ala)	NC_000010.10:g.96702075T>C	(Likely) benign	1 lab	f817bb28d3
17:29556886 NF1 G>T	17	29556886	29556886	G	T	NF1	c.2884G>T	NM_000267.3	NP_000258.1:p.(Glu962Ter)	NC_000017.10:g.29556886G>T	(Likely) pathogenic	1 lab	75ec1ffb86
3:4824323 ITPR1 C>G	3	4824323	4824323	C	G	ITPR1	c.6363C>G	NM_001168272.1	NP_001161744.1:p.(Ala2121=)	NC_000003.11:g.4824323C>G	(Likely) benign	1 lab	75ede4a818
9:135205758 SETX T>C	9	135205758	135205758	T	C	SETX	c.1227A>G	NM_001351527.1	NP_001338456.1:p.(Leu409=)	NC_000009.11:g.135205758T>C	(Likely) benign	1 lab	75edea321f
1:14057514 PRDM2 C>T	1	14057514	14057514	C	T	PRDM2	c.29C>T	NM_012231.4	NP_036363.2:p.(Ala10Val)	NC_000001.10:g.14057514C>T	(Likely) benign	1 lab	75ee478c25
10:102770108 PDZD7 C>G	10	102770108	102770108	C	G	PDZD7	c.2538G>C	NM_001195263.1	NP_001182192.1:p.(Gly846=)	NC_000010.10:g.102770108C>G	(Likely) benign	1 lab	75ee96f3dd
6:145156985 UTRN G>A	6	145156985	145156985	G	A	UTRN	c.9735G>A	NM_007124.2	NP_009055.2:p.(Pro3245=)	NC_000006.11:g.145156985G>A	(Likely) benign	1 lab	75eed430a8
2:170175349 LRP2 C>G	2	170175349	170175349	C	G	LRP2	c.233G>C	NM_004525.3	NP_004516.2:p.(Gly78Ala)	NC_000002.11:g.170175349C>G	VUS	1 lab	75f2f2544c
6:35945076 SLC26A8 G>T	6	35945076	35945076	G	T	SLC26A8	c.1078C>A	NM_052961.3	NP_443193.1:p.(Gln360Lys)	NC_000006.11:g.35945076G>T	(Likely) benign	1 lab	75f31637cb
12:39745710 KIF21A C>T	12	39745710	39745710	C	T	KIF21A	c.1542G>A	NM_001173464.1	NP_001166935.1:p.(Ala514=)	NC_000012.11:g.39745710C>T	(Likely) benign	1 lab	75f5d14e69
14:31354775 COCH G>A	14	31354775	31354775	G	A	COCH	c.1104G>A	NM_001347720.1	NP_001334649.1:p.(Lys368=)	NC_000014.8:g.31354775G>A	(Likely) benign	1 lab	75f8bc7c88
19:5903621 NDUFA11 A>C	19	5903621	5903621	A	C	NDUFA11	c.97+2T>G	NM_001193375.1	NP_001180304.1:p.?	NC_000019.9:g.5903621A>C	(Likely) pathogenic	1 lab	75faabab16
6:138576676 ARFGEF3 G>A	6	138576676	138576676	G	A	ARFGEF3	c.874G>A	NM_020340.5	NP_065073.3:p.(Asp292Asn)	NC_000006.11:g.138576676G>A	VUS	1 lab	75fb12f9a8
2:179498753 TTN G>A	2	179498753	179498753	G	A	TTN	c.42473C>T	NM_001267550.1	NP_001254479.1:p.(Thr14158Ile)	NC_000002.11:g.179498753G>A	VUS	1 lab	75fc77e609
6:33272287 TAPBP G>A	6	33272287	33272287	G	A	TAPBP	c.997C>T	NM_003190.4	NP_003181.3:p.(Arg333Trp)	NC_000006.11:g.33272287G>A	VUS	1 lab	75fc7d4514
11:65307083 LTBP3 T>C	11	65307083	65307083	T	C	LTBP3	c.3564A>G	NM_001130144.2	NP_001123616.1:p.(Thr1188=)	NC_000011.9:g.65307083T>C	(Likely) benign	1 lab	75fc9f15cc
X:151304077 MAGEA10 T>C	X	151304077	151304077	T	C	MAGEA10	c.16A>G	NM_001011543.2	NP_001011543.2:p.(Lys6Glu)	NC_000023.10:g.151304077T>C	VUS	1 lab	75fd6a50fc
1:247587698 NLRP3 T>C	1	247587698	247587698	T	C	NLRP3	c.947T>C	NM_001243133.1	NP_001230062.1:p.(Leu316Pro)	NC_000001.10:g.247587698T>C	VUS	1 lab	75ff93ee92
3:42674239 NKTR A>G	3	42674239	42674239	A	G	NKTR	c.697A>G	NM_005385.4	NP_005376.2:p.(Lys233Glu)	NC_000003.11:g.42674239A>G	VUS	1 lab	75ff958c01
11:65487730 RNASEH2C GCTC>G	11	65487730	65487739	GCTC	G	RNASEH2C	c.328_330del	NM_032193.4	NP_115569.2:p.(Glu110del)	NC_000011.9:g.65487737_65487739del	VUS	1 lab	7600e2f92f
16:2108847 TSC2 G>C	16	2108847	2108847	G	C	TSC2	c.948G>C	NM_000548.3	NP_000539.2:p.(Pro316=)	NC_000016.9:g.2108847G>C	(Likely) benign	1 lab	76043c44c7
16:15829309 MYH11 C>T	16	15829309	15829309	C	T	MYH11	c.3441G>A	NM_001040113.1	NP_001035202.1:p.(Gln1147=)	NC_000016.9:g.15829309C>T	(Likely) benign	1 lab	760549de7d
11:64950331 CAPN1 G>A	11	64950331	64950331	G	A	CAPN1	c.159G>A	NM_001198868.1	NP_001185797.1:p.(Gly53=)	NC_000011.9:g.64950331G>A	(Likely) benign	1 lab	76057ae948
8:61654911 CHD7 CAG>C	8	61654911	61654913	CAG	C	CHD7	c.921_922del	NM_017780.4	NP_060250.2:p.(Gly308AlafsTer9)	NC_000008.10:g.61654912_61654913del	(Likely) pathogenic	1 lab	76062f63e2
17:43013570 KIF18B C>G	17	43013570	43013570	C	G	KIF18B	c.143G>C	NM_001264573.1	NP_001251503.1:p.(Gly48Ala)	NC_000017.10:g.43013570C>G	(Likely) benign	1 lab	760796928a
17:78086424 GAA C>A	17	78086424	78086424	C	A	GAA	c.1802C>A	NM_000152.3	NP_000143.2:p.(Ser601Ter)	NC_000017.10:g.78086424C>A	(Likely) pathogenic	1 lab	7607d3fe7d
7:128415663 OPN1SW C>T	7	128415663	128415663	C	T	OPN1SW	c.182G>A	NM_001708.2	NP_001699.1:p.(Arg61His)	NC_000007.13:g.128415663C>T	(Likely) benign	1 lab	7609a2de19
X:153580580 FLNA A>G	X	153580580	153580580	A	G	FLNA	c.6738T>C	NM_001110556.2	NP_001104026.1:p.(Pro2246=)	NC_000023.10:g.153580580A>G	(Likely) benign	1 lab	760a5cc280
16:2548380 TBC1D24 C>T	16	2548380	2548380	C	T	TBC1D24	c.1125C>T	NM_001199107.1	NP_001186036.1:p.(His375=)	NC_000016.9:g.2548380C>T	(Likely) benign	1 lab	760a88d7ec
6:43155759 CUL9 C>T	6	43155759	43155759	C	T	CUL9	c.1890C>T	NM_015089.4	NP_055904.1:p.(Thr630=)	NC_000006.11:g.43155759C>T	(Likely) benign	1 lab	760c2c0f4f
20:42815354 JPH2 A>C	20	42815354	42815354	A	C	JPH2	c.-9T>G	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42815354A>C	VUS	1 lab	f81a5c1546
21:47831479 PCNT C>T	21	47831479	47831479	C	T	PCNT	c.5492C>T	NM_006031.5	NP_006022.3:p.(Ala1831Val)	NC_000021.8:g.47831479C>T	VUS	1 lab	760ea440bb
6:31996796 C4B C>T	6	31996796	31996796	C	T	C4B	c.3462C>T	NM_001002029.3	NP_001002029.3:p.(Ala1154=)	NC_000006.11:g.31996796C>T	(Likely) benign	1 lab	7610f7ea91
12:54367562 HOXC11 G>A	12	54367562	54367562	G	A	HOXC11	c.537G>A	NM_014212.4	NP_055027.1:p.(Gly179=)	NC_000012.11:g.54367562G>A	(Likely) benign	1 lab	7611c82dba
17:73945909 ACOX1 G>A	17	73945909	73945909	G	A	ACOX1	c.1254C>T	NM_001185039.1	NP_001171968.1:p.(Asn418=)	NC_000017.10:g.73945909G>A	(Likely) benign	1 lab	76126411b0
5:14508411 TRIO G>T	5	14508411	14508411	G	T	TRIO	c.9174G>T	NM_007118.3	NP_009049.2:p.(Thr3058=)	NC_000005.9:g.14508411G>T	(Likely) benign	1 lab	76129d8431
19:1221313 STK11 GCCCC>G	19	1221313	1221319	GCCCC	G	STK11	c.839_842del	NM_000455.5	NP_000446.1:p.(Pro280ArgfsTer6)	NC_000019.9:g.1221316_1221319del	(Likely) pathogenic	1 lab	76132a4266
7:117176696 CFTR G>A	7	117176696	117176696	G	A	CFTR	c.838G>A	NM_000492.3	NP_000483.3:p.(Ala280Thr)	NC_000007.13:g.117176696G>A	VUS	1 lab	7615584d6c
X:21670599 CNKSR2 C>T	X	21670599	21670599	C	T	CNKSR2	c.3065C>T	NM_014927.4	NP_055742.2:p.(Ser1022Phe)	NC_000023.10:g.21670599C>T	VUS	1 lab	761787fc63
X:48385671 EBP T>G	X	48385671	48385671	T	G	EBP	c.467T>G	NM_006579.2	NP_006570.1:p.(Val156Gly)	NC_000023.10:g.48385671T>G	VUS	1 lab	76178d2b9c
2:86292438 POLR1A G>C	2	86292438	86292438	G	C	POLR1A	c.2017C>G	NM_015425.5	NP_056240.2:p.(Pro673Ala)	NC_000002.11:g.86292438G>C	VUS	1 lab	76197936c2
11:70653170 SHANK2 C>T	11	70653170	70653170	C	T	SHANK2	c.1600G>A	NM_012309.4	NP_036441.2:p.(Val534Ile)	NC_000011.9:g.70653170C>T	(Likely) benign	1 lab	761a1eea5d
4:110773032 LRIT3 C>T	4	110773032	110773032	C	T	LRIT3	c.489C>T	NM_198506.4	NP_940908.3:p.(Asn163=)	NC_000004.11:g.110773032C>T	(Likely) benign	1 lab	761a9346e2
18:44149426 LOXHD1 G>A	18	44149426	44149426	G	A	LOXHD1	c.2223C>T	NM_144612.6	NP_653213.6:p.(Leu741=)	NC_000018.9:g.44149426G>A	(Likely) benign	1 lab	761bef4cf3
X:128657183 SMARCA1 C>G	X	128657183	128657183	C	G	SMARCA1	c.165G>C	NM_003069.4	NP_003060.2:p.(Lys55Asn)	NC_000023.10:g.128657183C>G	(Likely) benign	1 lab	761d2be30e
1:216420333 USH2A T>G	1	216420333	216420333	T	G	USH2A	c.2403A>C	NM_206933.2	NP_996816.2:p.(Gly801=)	NC_000001.10:g.216420333T>G	(Likely) benign	1 lab	761db4e762
19:34003522 PEPD C>T	19	34003522	34003522	C	T	PEPD	c.178G>A	NM_000285.3	NP_000276.2:p.(Asp60Asn)	NC_000019.9:g.34003522C>T	VUS	1 lab	761db756ee
22:45938048 FBLN1 C>T	22	45938048	45938048	C	T	FBLN1	c.1080C>T	NM_006486.2	NP_006477.2:p.(Cys360=)	NC_000022.10:g.45938048C>T	(Likely) benign	1 lab	761f714c36
9:134019967 NUP214 C>T	9	134019967	134019967	C	T	NUP214	c.1595C>T	NM_005085.3	NP_005076.3:p.(Pro532Leu)	NC_000009.11:g.134019967C>T	(Likely) benign	1 lab	761fa1cb0a
16:84094363 MBTPS1 C>T	16	84094363	84094363	C	T	MBTPS1	c.2628G>A	NM_003791.3	NP_003782.1:p.(Pro876=)	NC_000016.9:g.84094363C>T	(Likely) benign	1 lab	7620b1e6fb
6:83898373 PGM3 G>T	6	83898373	83898373	G	T	PGM3	c.433C>A	NM_001199917.2	NP_001186846.1:p.(Leu145Met)	NC_000006.11:g.83898373G>T	(Likely) benign	1 lab	76240575e5
19:36223734 KMT2B T>C	19	36223734	36223734	T	C	KMT2B	c.6284T>C	NM_014727.2	NP_055542.1:p.(Val2095Ala)	NC_000019.9:g.36223734T>C	VUS	1 lab	76247f767f
3:136047708 PCCB CTG>C	3	136047708	136047712	CTG	C	PCCB	c.1498+12_1498+13del	NM_000532.5	NP_000523.2:p.?	NC_000003.11:g.136047711_136047712del	(Likely) benign	1 lab	7627184cf3
X:115304610 AGTR2 G>A	X	115304610	115304610	G	A	AGTR2	c.1077G>A	NM_000686.4	NP_000677.2:p.(Glu359=)	NC_000023.10:g.115304610G>A	(Likely) benign	1 lab	7627255821
21:38128841 HLCS A>T	21	38128841	38128841	A	T	HLCS	c.2009+2T>A	NM_001242784.2	NP_001229713.1:p.?	NC_000021.8:g.38128841A>T	(Likely) pathogenic	1 lab	76272d48fd
19:12786921 DHPS T>C	19	12786921	12786921	T	C	DHPS	c.924A>G	NM_001930.4	NP_001921.1:p.(Thr308=)	NC_000019.9:g.12786921T>C	(Likely) benign	1 lab	76290a8902
2:44173344 LRPPRC T>C	2	44173344	44173344	T	C	LRPPRC	c.2118A>G	NM_133259.3	NP_573566.2:p.(Glu706=)	NC_000002.11:g.44173344T>C	(Likely) benign	1 lab	762cf7fd8b
5:137803195 EGR1 G>A	5	137803195	137803195	G	A	EGR1	c.1057G>A	NM_001964.2	NP_001955.1:p.(Asp353Asn)	NC_000005.9:g.137803195G>A	VUS	1 lab	762d36f10a
1:110613006 ALX3 GC>G	1	110613006	110613009	GC	G	ALX3	c.228del	NM_006492.3	NP_006483.2:p.(Gly78AlafsTer115)	NC_000001.10:g.110613009del	(Likely) pathogenic	1 lab	762fb79c94
5:71496185 MAP1B G>A	5	71496185	71496185	G	A	MAP1B	c.7003G>A	NM_005909.5	NP_005900.2:p.(Ala2335Thr)	NC_000005.9:g.71496185G>A	(Likely) benign	1 lab	7630037ee2
9:133927946 LAMC3 G>A	9	133927946	133927946	G	A	LAMC3	c.1699G>A	NM_006059.3	NP_006050.3:p.(Gly567Arg)	NC_000009.11:g.133927946G>A	(Likely) benign	1 lab	7630acadc1
12:80888978 MISSING C>T	12	80888978	80888978	C	T	MISSING				NC_000012.11:g.80888978C>T	(Likely) benign	1 lab	7631c54e2b
10:99498360 ZFYVE27 C>T	10	99498360	99498360	C	T	ZFYVE27	c.126C>T	NM_144588.6	NP_653189.3:p.(Leu42=)	NC_000010.10:g.99498360C>T	(Likely) benign	1 lab	763227e13e
16:88504504 ZNF469 G>A	16	88504504	88504504	G	A	ZNF469				NC_000016.9:g.88504504G>A	(Likely) benign	1 lab	7634bc8c89
19:6502285 TUBB4A G>A	19	6502285	6502285	G	A	TUBB4A	c.92C>T	NM_001289123.1	NP_001276052.1:p.(Ala31Val)	NC_000019.9:g.6502285G>A	VUS	1 lab	76358fb72d
X:70597629 TAF1 C>T	X	70597629	70597629	C	T	TAF1	c.951C>T	NM_004606.4	NP_004597.2:p.(Tyr317=)	NC_000023.10:g.70597629C>T	(Likely) benign	1 lab	763619ea7c
1:10690026 PEX14 C>T	1	10690026	10690026	C	T	PEX14	c.1116C>T	NM_004565.2	NP_004556.1:p.(Asn372=)	NC_000001.10:g.10690026C>T	(Likely) benign	1 lab	763994359e
5:127637099 FBN2 A>G	5	127637099	127637099	A	G	FBN2	c.6021T>C	NM_001999.3	NP_001990.2:p.(Leu2007=)	NC_000005.9:g.127637099A>G	(Likely) benign	1 lab	7639b4123a
10:69921456 MYPN C>A	10	69921456	69921456	C	A	MYPN	c.1460-30C>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69921456C>A	(Likely) benign	1 lab	763adfddc4
5:118835098 HSD17B4 G>A	5	118835098	118835098	G	A	HSD17B4	c.1134G>A	NM_001199291.2	NP_001186220.1:p.(Ala378=)	NC_000005.9:g.118835098G>A	(Likely) benign	1 lab	763e4ac122
X:153588883 FLNA C>A	X	153588883	153588883	C	A	FLNA	c.3280G>T	NM_001110556.2	NP_001104026.1:p.(Gly1094Cys)	NC_000023.10:g.153588883C>A	VUS	1 lab	76410fff81
5:82815317 VCAN G>A	5	82815317	82815317	G	A	VCAN	c.1192G>A	NM_004385.4	NP_004376.2:p.(Val398Met)	NC_000005.9:g.82815317G>A	(Likely) benign	1 lab	76429f0b2e
X:6451894 VCX3A C>T	X	6451894	6451894	C	T	VCX3A	c.453G>A	NM_016379.3	NP_057463.2:p.(Glu151=)	NC_000023.10:g.6451894C>T	(Likely) benign	1 lab	76445700f2
12:49434959 KMT2D G>A	12	49434959	49434959	G	A	KMT2D	c.6594C>T	NM_003482.3	NP_003473.3:p.(Pro2198=)	NC_000012.11:g.49434959G>A	(Likely) benign	1 lab	76448c172a
17:29554234 NF1 A>G	17	29554234	29554234	A	G	NF1	c.2252-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554234A>G	(Likely) pathogenic	1 lab	76459ae54b
3:14189479 XPC C>T	3	14189479	14189479	C	T	XPC	c.2443G>A	NM_004628.4	NP_004619.3:p.(Glu815Lys)	NC_000003.11:g.14189479C>T	VUS	1 lab	76495bcfc3
21:47856012 PCNT C>T	21	47856012	47856012	C	T	PCNT	c.8947C>T	NM_006031.5	NP_006022.3:p.(Leu2983Phe)	NC_000021.8:g.47856012C>T	VUS	1 lab	76582a6ca6
6:84856455 CEP162 T>C	6	84856455	84856455	T	C	CEP162	c.3821A>G	NM_014895.4	NP_055710.2:p.(Gln1274Arg)	NC_000006.11:g.84856455T>C	(Likely) benign	1 lab	764d927e17
8:48711794 PRKDC C>A	8	48711794	48711794	C	A	PRKDC	c.10274G>T	NM_006904.6	NP_008835.5:p.(Arg3425Leu)	NC_000008.10:g.48711794C>A	VUS	1 lab	764f9cd748
1:63044524 DOCK7 G>A	1	63044524	63044524	G	A	DOCK7	c.1985C>T	NM_001367561.1	NP_001354490.1:p.(Pro662Leu)	NC_000001.10:g.63044524G>A	VUS	1 lab	7650a7c4f6
X:129147530 BCORL1 C>T	X	129147530	129147530	C	T	BCORL1	c.782C>T	NM_001184772.2	NP_001171701.1:p.(Ala261Val)	NC_000023.10:g.129147530C>T	VUS	1 lab	7650c2fdfa
19:46283031 DMPK C>T	19	46283031	46283031	C	T	DMPK	c.282+5G>A	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46283031C>T	VUS	1 lab	76513344a0
16:76513340 CNTNAP4 C>T	16	76513340	76513340	C	T	CNTNAP4	c.1523C>T	NM_001322189.1	NP_001309118.1:p.(Ala508Val)	NC_000016.9:g.76513340C>T	(Likely) benign	1 lab	76533fa13c
22:24176405 SMARCB1 G>A	22	24176405	24176405	G	A	SMARCB1	c.*38G>A	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24176405G>A	VUS	1 lab	765399f756
5:118837728 HSD17B4 T>C	5	118837728	118837728	T	C	HSD17B4	c.1285-8T>C	NM_001199291.2	NP_001186220.1:p.?	NC_000005.9:g.118837728T>C	(Likely) benign	1 lab	7653af44c5
3:113619973 GRAMD1C G>A	3	113619973	113619973	G	A	GRAMD1C	c.636G>A	NM_017577.5	NP_060047.3:p.(Ser212=)	NC_000003.11:g.113619973G>A	(Likely) benign	1 lab	76552208f6
15:43258371 UBR1 G>A	15	43258371	43258371	G	A	UBR1	c.4571C>T	NM_174916.2	NP_777576.1:p.(Pro1524Leu)	NC_000015.9:g.43258371G>A	VUS	1 lab	76552703cf
7:139715530 TBXAS1 CG>C	7	139715530	139715533	CG	C	TBXAS1	c.1237del	NM_001061.7	NP_001052.3:p.(Glu413ArgfsTer19)	NC_000007.13:g.139715533del	VUS	1 lab	765a3338c1
12:7354903 PEX5 C>T	12	7354903	7354903	C	T	PEX5	c.709C>T	NM_001131025.1	NP_001124497.1:p.(Arg237Ter)	NC_000012.11:g.7354903C>T	(Likely) pathogenic	1 lab	765a7f8fc1
3:184040176 EIF4G1 C>T	3	184040176	184040176	C	T	EIF4G1	c.1546C>T	NM_182917.4	NP_886553.3:p.(Arg516Trp)	NC_000003.11:g.184040176C>T	(Likely) benign	1 lab	765c8a5115
X:153296529 MECP2 G>T	X	153296529	153296529	G	T	MECP2	c.750C>A	NM_004992.4	NP_004983.1:p.(Arg250=)	NC_000023.10:g.153296529G>T	(Likely) benign	1 lab	f828dd18bb
1:3342229 PRDM16 C>T	1	3342229	3342229	C	T	PRDM16	c.3024C>T	NM_022114.3	NP_071397.3:p.(Phe1008=)	NC_000001.10:g.3342229C>T	(Likely) benign	1 lab	765effe64a
20:45358042 SLC2A10 C>T	20	45358042	45358042	C	T	SLC2A10	c.1462C>T	NM_030777.3	NP_110404.1:p.(Leu488Phe)	NC_000020.10:g.45358042C>T	(Likely) benign	1 lab	765ff1ddde
11:72114014 CLPB T>C	11	72114014	72114014	T	C	CLPB	c.538A>G	NM_030813.6	NP_110440.1:p.(Asn180Asp)	NC_000011.9:g.72114014T>C	(Likely) benign	1 lab	7661dd1f47
4:119652555 SEC24D G>A	4	119652555	119652555	G	A	SEC24D	c.2787C>T	NM_001318066.1	NP_001304995.1:p.(Phe929=)	NC_000004.11:g.119652555G>A	(Likely) benign	1 lab	7662167caa
X:54359961 WNK3 G>C	X	54359961	54359961	G	C	WNK3	c.146C>G	NM_020922.4	NP_065973.2:p.(Ser49Cys)	NC_000023.10:g.54359961G>C	(Likely) benign	1 lab	7662809363
9:73151721 TRPM3 A>G	9	73151721	73151721	A	G	TRPM3				NC_000009.11:g.73151721A>G	(Likely) benign	1 lab	7664d4164b
15:63930984 HERC1 CAG>C	15	63930984	63930986	CAG	C	HERC1	c.11902-11_11902-10del	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63930985_63930986del	(Likely) benign	1 lab	766698b9d2
X:153663810 ATP6AP1 A>C	X	153663810	153663810	A	C	ATP6AP1	c.1162A>C	NM_001183.5	NP_001174.2:p.(Thr388Pro)	NC_000023.10:g.153663810A>C	(Likely) benign	1 lab	7668130cbb
1:42925369 PPCS C>T	1	42925369	42925369	C	T	PPCS	c.708C>T	NM_024664.4	NP_078940.2:p.(Pro236=)	NC_000001.10:g.42925369C>T	(Likely) benign	1 lab	7668639dd7
7:103050921 SLC26A5 C>T	7	103050921	103050921	C	T	SLC26A5	c.646G>A	NM_198999.2	NP_945350.1:p.(Ala216Thr)	NC_000007.13:g.103050921C>T	VUS	1 lab	766c9e6738
6:159044620 TMEM181 T>C	6	159044620	159044620	T	C	TMEM181	c.1346T>C	NM_020823.1	NP_065874.1:p.(Val449Ala)	NC_000006.11:g.159044620T>C	VUS	1 lab	766ce6ea34
11:14316129 RRAS2 A>C	11	14316129	14316129	A	C	RRAS2	c.300-4T>G	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14316129A>C	(Likely) benign	1 lab	766f0b20fb
6:76568635 MYO6 C>G	6	76568635	76568635	C	G	MYO6	c.1398C>G	NM_004999.3	NP_004990.3:p.(Asn466Lys)	NC_000006.11:g.76568635C>G	VUS	1 lab	76709f59f5
5:94859480 SKIC3 C>G	5	94859480	94859480	C	G	SKIC3	c.1511G>C	NM_014639.3	NP_055454.1:p.(Arg504Thr)	NC_000005.9:g.94859480C>G	VUS	1 lab	76711c9814
15:101120736 LINS1 C>T	15	101120736	101120736	C	T	LINS1	c.312G>A	NM_001040616.2	NP_001035706.1:p.(Leu104=)	NC_000015.9:g.101120736C>T	(Likely) benign	1 lab	767125bd57
2:15432890 NBAS C>T	2	15432890	15432890	C	T	NBAS	c.4798G>A	NM_015909.3	NP_056993.2:p.(Ala1600Thr)	NC_000002.11:g.15432890C>T	VUS	1 lab	7672c16787
17:29684037 NF1 G>T	17	29684037	29684037	G	T	NF1	c.7735G>T	NM_000267.3	NP_000258.1:p.(Glu2579Ter)	NC_000017.10:g.29684037G>T	(Likely) pathogenic	1 lab	76735c800d
16:2136835 TSC2 A>G	16	2136835	2136835	A	G	TSC2	c.4952A>G	NM_000548.3	NP_000539.2:p.(Asn1651Ser)	NC_000016.9:g.2136835A>G	(Likely) pathogenic	1 lab	7679d10146
12:2224458 CACNA1C C>G	12	2224458	2224458	C	G	CACNA1C	c.118C>G	NM_199460.3	NP_955630.3:p.(Pro40Ala)	NC_000012.11:g.2224458C>G	(Likely) benign	1 lab	7679dfe9d5
14:44974262 FSCB G>A	14	44974262	44974262	G	A	FSCB	c.1929C>T	NM_032135.3	NP_115511.3:p.(Pro643=)	NC_000014.8:g.44974262G>A	(Likely) benign	1 lab	767d04f986
2:152406233 NEB G>A	2	152406233	152406233	G	A	NEB	c.19966C>T	NM_001271208.1	NP_001258137.1:p.(Arg6656Cys)	NC_000002.11:g.152406233G>A	VUS	1 lab	767e1d1766
X:14862673 FANCB G>A	X	14862673	14862673	G	A	FANCB	c.2117C>T	NM_001018113.1	NP_001018123.1:p.(Thr706Ile)	NC_000023.10:g.14862673G>A	(Likely) benign	1 lab	767e9cca50
1:185984327 HMCN1 A>G	1	185984327	185984327	A	G	HMCN1	c.4667A>G	NM_031935.2	NP_114141.2:p.(Asp1556Gly)	NC_000001.10:g.185984327A>G	VUS	1 lab	767eeb6a85
17:12920227 ELAC2 T>C	17	12920227	12920227	T	C	ELAC2	c.319A>G	NM_018127.6	NP_060597.4:p.(Asn107Asp)	NC_000017.10:g.12920227T>C	VUS	1 lab	7681ad7876
4:187004127 TLR3 G>T	4	187004127	187004127	G	T	TLR3	c.1287G>T	NM_003265.2	NP_003256.1:p.(Trp429Cys)	NC_000004.11:g.187004127G>T	(Likely) benign	1 lab	7683c2b4a2
4:126337634 FAT4 A>G	4	126337634	126337634	A	G	FAT4	c.6875A>G	NM_024582.4	NP_078858.4:p.(Asn2292Ser)	NC_000004.11:g.126337634A>G	VUS	1 lab	7683fd92dd
19:9086982 MUC16 T>C	19	9086982	9086982	T	C	MUC16	c.4833A>G	NM_024690.2	NP_078966.2:p.(Thr1611=)	NC_000019.9:g.9086982T>C	(Likely) benign	1 lab	768400f607
13:60590205 DIAPH3 A>G	13	60590205	60590205	A	G	DIAPH3	c.701T>C	NM_001042517.1	NP_001035982.1:p.(Ile234Thr)	NC_000013.10:g.60590205A>G	(Likely) benign	1 lab	7684bd4bd8
16:3788552 CREBBP A>G	16	3788552	3788552	A	G	CREBBP	c.4394+8T>C	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3788552A>G	(Likely) benign	1 lab	7685c03721
15:81294811 TLNRD1 T>G	15	81294811	81294811	T	G	TLNRD1	c.199T>G	NM_022566.2	NP_072088.1:p.(Ser67Ala)	NC_000015.9:g.81294811T>G	(Likely) benign	1 lab	7686b79d99
4:6303533 WFS1 G>T	4	6303533	6303533	G	T	WFS1	c.2011G>T	NM_006005.3	NP_005996.2:p.(Ala671Ser)	NC_000004.11:g.6303533G>T	(Likely) benign	1 lab	768895aebe
12:10167315 CLEC12B C>A	12	10167315	10167315	C	A	CLEC12B	c.384C>A	NM_205852.3	NP_995324.2:p.(Cys128Ter)	NC_000012.11:g.10167315C>A	VUS	1 lab	768974e391
12:124232135 ATP6V0A2 T>C	12	124232135	124232135	T	C	ATP6V0A2	c.1606-19T>C	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124232135T>C	(Likely) benign	1 lab	7689cd86ce
7:128480977 FLNC C>T	7	128480977	128480977	C	T	FLNC	c.1766C>T	NM_001458.5	NP_001449.3:p.(Ser589Leu)	NC_000007.13:g.128480977C>T	VUS	1 lab	f83272ce09
4:30724881 PCDH7 G>A	4	30724881	30724881	G	A	PCDH7	c.1837G>A	NM_001173523.1	NP_001166994.1:p.(Asp613Asn)	NC_000004.11:g.30724881G>A	VUS	1 lab	768e218531
15:41816316 RPAP1 T>G	15	41816316	41816316	T	G	RPAP1	c.2212A>C	NM_015540.4	NP_056355.2:p.(Ser738Arg)	NC_000015.9:g.41816316T>G	(Likely) benign	1 lab	768ff669a0
11:6646503 DCHS1 C>T	11	6646503	6646503	C	T	DCHS1				NC_000011.9:g.6646503C>T	(Likely) benign	1 lab	76901f0fa0
19:7125529 INSR C>G	19	7125529	7125529	C	G	INSR	c.3023G>C	NM_000208.3	NP_000199.2:p.(Cys1008Ser)	NC_000019.9:g.7125529C>G	(Likely) benign	1 lab	76938864a6
17:65888108 BPTF C>T	17	65888108	65888108	C	T	BPTF	c.2013C>T	NM_182641.4	NP_872579.2:p.(Ala671=)	NC_000017.10:g.65888108C>T	(Likely) benign	1 lab	76962bd21b
14:20767565 TTC5 G>A	14	20767565	20767565	G	A	TTC5	c.439C>T	NM_138376.3	NP_612385.2:p.(Arg147Cys)	NC_000014.8:g.20767565G>A	VUS	1 lab	7696591f67
11:118533834 TREH C>T	11	118533834	118533834	C	T	TREH	c.262G>A	NM_007180.2	NP_009111.2:p.(Ala88Thr)	NC_000011.9:g.118533834C>T	(Likely) benign	1 lab	769697b3f5
X:153594769 FLNA CCT>C	X	153594769	153594771	CCT	C	FLNA	c.1133_1134del	NM_001110556.2	NP_001104026.1:p.(Gln378ArgfsTer2)	NC_000023.10:g.153594770_153594771del	(Likely) pathogenic	1 lab	76972aac68
8:62479753 ASPH C>T	8	62479753	62479753	C	T	ASPH	c.1274G>A	NM_004318.3	NP_004309.2:p.(Arg425His)	NC_000008.10:g.62479753C>T	VUS	1 lab	769944ad91
2:179456250 TTN A>C	2	179456250	179456250	A	C	TTN	c.60221-19T>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179456250A>C	(Likely) benign	1 lab	7699bbd7d2
1:220369614 RAB3GAP2 G>A	1	220369614	220369614	G	A	RAB3GAP2	c.938C>T	NM_012414.3	NP_036546.2:p.(Thr313Ile)	NC_000001.10:g.220369614G>A	(Likely) benign	1 lab	769adb034b
14:20019836 POTEM T>C	14	20019836	20019836	T	C	POTEM	c.385A>G	NM_001145442.1	NP_001138914.1:p.(Met129Val)	NC_000014.8:g.20019836T>C	(Likely) benign	1 lab	769b4194da
19:52148780 SIGLEC14 G>T	19	52148780	52148780	G	T	SIGLEC14	c.704C>A	NM_001098612.1	NP_001092082.1:p.(Ala235Asp)	NC_000019.9:g.52148780G>T	VUS	1 lab	769b6f52f3
6:33139071 COL11A2 T>G	6	33139071	33139071	T	G	COL11A2	c.3289A>C	NM_080680.2	NP_542411.2:p.(Thr1097Pro)	NC_000006.11:g.33139071T>G	(Likely) benign	1 lab	769c42e20b
16:2103385 TSC2 C>T	16	2103385	2103385	C	T	TSC2	c.268C>T	NM_000548.3	NP_000539.2:p.(Gln90Ter)	NC_000016.9:g.2103385C>T	(Likely) pathogenic	1 lab	769e85a9d3
2:9645428 ADAM17 G>A	2	9645428	9645428	G	A	ADAM17	c.1411C>T	NM_003183.6	NP_003174.3:p.(Gln471Ter)	NC_000002.11:g.9645428G>A	(Likely) pathogenic	1 lab	76a062d7ce
X:70519858 NONO ACTC>A	X	70519858	70519866	ACTC	A	NONO	c.1354_1356del	NM_007363.5	NP_031389.3:p.(Pro452del)	NC_000023.10:g.70519864_70519866del	VUS	1 lab	76a120bde6
7:117235044 CFTR C>T	7	117235044	117235044	C	T	CFTR	c.2551C>T	NM_000492.3	NP_000483.3:p.(Arg851Ter)	NC_000007.13:g.117235044C>T	(Likely) pathogenic	1 lab	76a2d420ae
17:1637046 WDR81 A>G	17	1637046	1637046	A	G	WDR81	c.4715A>G	NM_001163809.1	NP_001157281.1:p.(Asn1572Ser)	NC_000017.10:g.1637046A>G	(Likely) benign	1 lab	76a376c5ff
X:70072985 TEX11 C>T	X	70072985	70072985	C	T	TEX11	c.469G>A	NM_001003811.1	NP_001003811.1:p.(Val157Ile)	NC_000023.10:g.70072985C>T	(Likely) benign	1 lab	76a3ab597f
4:39274644 WDR19 C>T	4	39274644	39274644	C	T	WDR19	c.3528C>T	NM_025132.3	NP_079408.3:p.(Leu1176=)	NC_000004.11:g.39274644C>T	(Likely) benign	1 lab	76a3ed5cb3
22:39123224 GTPBP1 C>T	22	39123224	39123224	C	T	GTPBP1	c.1408C>T	NM_004286.5	NP_004277.2:p.(Arg470Cys)	NC_000022.10:g.39123224C>T	VUS	1 lab	76a4b0cf4e
7:81598264 CACNA2D1 C>T	7	81598264	81598264	C	T	CACNA2D1	c.2334G>A	NM_000722.4	NP_000713.2:p.(Ser778=)	NC_000007.13:g.81598264C>T	(Likely) benign	1 lab	f839056a47
6:36938258 MTCH1 C>T	6	36938258	36938258	C	T	MTCH1	c.904-9G>A	NM_014341.2	NP_055156.1:p.?	NC_000006.11:g.36938258C>T	VUS	1 lab	f83946f1ff
17:1519889 SLC43A2 T>C	17	1519889	1519889	T	C	SLC43A2	c.335A>G	NM_001284498.1	NP_001271427.1:p.(Lys112Arg)	NC_000017.10:g.1519889T>C	VUS	1 lab	76a71dccb5
6:90384014 MDN1 A>C	6	90384014	90384014	A	C	MDN1	c.13056T>G	NM_014611.2	NP_055426.1:p.(Ile4352Met)	NC_000006.11:g.90384014A>C	VUS	1 lab	76a725f360
1:53676035 CPT2 G>T	1	53676035	53676035	G	T	CPT2	c.689G>T	NM_000098.2	NP_000089.1:p.(Ser230Ile)	NC_000001.10:g.53676035G>T	(Likely) benign	1 lab	76a87aca7b
16:31097715 PRSS53 C>T	16	31097715	31097715	C	T	PRSS53	c.606G>A	NM_001039503.2	NP_001034592.1:p.(Pro202=)	NC_000016.9:g.31097715C>T	(Likely) benign	1 lab	76aa272f0d
1:43908525 SZT2 G>C	1	43908525	43908525	G	C	SZT2	c.8016G>C	NM_015284.3	NP_056099.3:p.(Val2672=)	NC_000001.10:g.43908525G>C	(Likely) benign	1 lab	76aa72e1fd
12:26731686 ITPR2 T>G	12	26731686	26731686	T	G	ITPR2	c.4590A>C	NM_002223.3	NP_002214.2:p.(Lys1530Asn)	NC_000012.11:g.26731686T>G	VUS	1 lab	76ab68b89a
1:36563558 COL8A2 G>A	1	36563558	36563558	G	A	COL8A2	c.1724C>T	NM_005202.3	NP_005193.1:p.(Pro575Leu)	NC_000001.10:g.36563558G>A	VUS	1 lab	76ab71ea05
11:62295172 AHNAK C>T	11	62295172	62295172	C	T	AHNAK	c.6717G>A	NM_001620.3	NP_001611.1:p.(Trp2239Ter)	NC_000011.9:g.62295172C>T	VUS	1 lab	f83b5a8fc3
19:37838094 ZNF875 G>A	19	37838094	37838094	G	A	ZNF875	c.18G>A	NM_001329765.1	NP_001316694.1:p.(Ala6=)	NC_000019.9:g.37838094G>A	(Likely) benign	1 lab	76ac6148ab
X:154736728 TMLHE A>T	X	154736728	154736728	A	T	TMLHE	c.826T>A	NM_018196.3	NP_060666.1:p.(Tyr276Asn)	NC_000023.10:g.154736728A>T	VUS	1 lab	76b0a34b6d
17:76989856 CANT1 C>T	17	76989856	76989856	C	T	CANT1	c.982G>A	NM_138793.3	NP_620148.1:p.(Gly328Ser)	NC_000017.10:g.76989856C>T	(Likely) benign	1 lab	76b0d94b32
2:74763474 LOXL3 C>T	2	74763474	74763474	C	T	LOXL3	c.1037G>A	NM_032603.4	NP_115992.1:p.(Arg346Gln)	NC_000002.11:g.74763474C>T	VUS	1 lab	76b1fa024f
22:25424783 KIAA1671 G>A	22	25424783	25424783	G	A	KIAA1671	c.817G>A	NM_001145206.1	NP_001138678.1:p.(Glu273Lys)	NC_000022.10:g.25424783G>A	VUS	1 lab	76b3c11b68
17:29496911 NF1 T>A	17	29496911	29496911	T	A	NF1	c.482T>A	NM_000267.3	NP_000258.1:p.(Leu161Ter)	NC_000017.10:g.29496911T>A	(Likely) pathogenic	1 lab	76b408bc96
3:93715514 ARL13B G>A	3	93715514	93715514	G	A	ARL13B	c.71G>A	NM_001321328.1	NP_001308257.1:p.(Arg24His)	NC_000003.11:g.93715514G>A	VUS	1 lab	76b5198839
8:55538613 RP1 G>A	8	55538613	55538613	G	A	RP1	c.2171G>A	NM_006269.1	NP_006260.1:p.(Gly724Glu)	NC_000008.10:g.55538613G>A	VUS	1 lab	76b66aca86
16:81819690 PLCG2 C>T	16	81819690	81819690	C	T	PLCG2	c.96C>T	NM_002661.3	NP_002652.2:p.(Ser32=)	NC_000016.9:g.81819690C>T	(Likely) benign	1 lab	76b6c9366e
9:140919617 CACNA1B C>T	9	140919617	140919617	C	T	CACNA1B	c.3279C>T	NM_000718.3	NP_000709.1:p.(Val1093=)	NC_000009.11:g.140919617C>T	(Likely) benign	1 lab	76b842327a
X:47045138 RBM10 A>C	X	47045138	47045138	A	C	RBM10	c.2574A>C	NM_001204468.1	NP_001191397.1:p.(Arg858=)	NC_000023.10:g.47045138A>C	(Likely) benign	1 lab	76b874294d
8:42297053 SLC20A2 G>A	8	42297053	42297053	G	A	SLC20A2	c.849C>T	NM_001257180.2	NP_001244109.1:p.(Ser283=)	NC_000008.10:g.42297053G>A	(Likely) benign	1 lab	76b8ad5695
10:88441239 LDB3 G>A	10	88441239	88441239	G	A	LDB3	c.368G>A	NM_007078.2	NP_009009.1:p.(Ser123Asn)	NC_000010.10:g.88441239G>A	VUS	1 lab	76b92d0047
X:23398157 PTCHD1 A>C	X	23398157	23398157	A	C	PTCHD1	c.801A>C	NM_173495.2	NP_775766.2:p.(Val267=)	NC_000023.10:g.23398157A>C	(Likely) benign	1 lab	76b9b18afb
16:14028125 ERCC4 A>G	16	14028125	14028125	A	G	ERCC4	c.1179A>G	NM_005236.2	NP_005227.1:p.(Ala393=)	NC_000016.9:g.14028125A>G	(Likely) benign	1 lab	76bb034c1e
4:5564770 EVC2 C>T	4	5564770	5564770	C	T	EVC2	c.3492G>A	NM_001166136.1	NP_001159608.1:p.(Leu1164=)	NC_000004.11:g.5564770C>T	(Likely) benign	1 lab	76bf95a68f
17:18024134 MYO15A C>T	17	18024134	18024134	C	T	MYO15A	c.2020C>T	NM_016239.3	NP_057323.3:p.(Pro674Ser)	NC_000017.10:g.18024134C>T	(Likely) benign	1 lab	76c00d991a
12:6634817 NCAPD2 C>T	12	6634817	6634817	C	T	NCAPD2	c.2283C>T	NM_014865.4	NP_055680.3:p.(Thr761=)	NC_000012.11:g.6634817C>T	(Likely) benign	1 lab	76c1e5f93f
8:38124761 PLPP5 G>A	8	38124761	38124761	G	A	PLPP5	c.487C>T	NM_001102560.1	NP_001096030.1:p.(Pro163Ser)	NC_000008.10:g.38124761G>A	(Likely) benign	1 lab	76c258275e
14:93673776 UBR7 C>A	14	93673776	93673776	C	A	UBR7	c.140C>A	NM_175748.3	NP_786924.2:p.(Ser47Tyr)	NC_000014.8:g.93673776C>A	VUS	1 lab	76c2a54b7d
15:67473779 SMAD3 CG>C	15	67473779	67473781	CG	C	SMAD3	c.861del	NM_005902.4	NP_005893.1:p.(Arg288AspfsTer53)	NC_000015.9:g.67473781del	(Likely) pathogenic	1 lab	76c3e044d6
13:28222513 POLR1D C>T	13	28222513	28222513	C	T	POLR1D	c.-58-3C>T	NM_001206559.1	NP_001193488.1:p.?	NC_000013.10:g.28222513C>T	(Likely) benign	1 lab	76c3f8c878
11:62381150 ROM1 C>T	11	62381150	62381150	C	T	ROM1	c.397C>T	NM_000327.3	NP_000318.1:p.(Leu133=)	NC_000011.9:g.62381150C>T	(Likely) benign	1 lab	76c6df8687
X:70524450 ITGB1BP2 G>T	X	70524450	70524450	G	T	ITGB1BP2	c.812G>T	NM_012278.3	NP_036410.1:p.(Trp271Leu)	NC_000023.10:g.70524450G>T	VUS	1 lab	76c982df59
1:11860321 MTHFR C>T	1	11860321	11860321	C	T	MTHFR	c.657G>A	NM_001330358.1	NP_001317287.1:p.(Leu219=)	NC_000001.10:g.11860321C>T	(Likely) benign	1 lab	76c9942153
X:48558964 SUV39H1 G>A	X	48558964	48558964	G	A	SUV39H1	c.681G>A	NM_001282166.1	NP_001269095.1:p.(Gly227=)	NC_000023.10:g.48558964G>A	(Likely) benign	1 lab	76c9a0234d
11:6637919 TPP1 T>C	11	6637919	6637919	T	C	TPP1	c.859A>G	NM_000391.3	NP_000382.3:p.(Ile287Val)	NC_000011.9:g.6637919T>C	(Likely) benign	1 lab	76cc085f84
4:15601165 CC2D2A C>G	4	15601165	15601165	C	G	CC2D2A	c.4510C>G	NM_001080522.2	NP_001073991.2:p.(Leu1504Val)	NC_000004.11:g.15601165C>G	VUS	1 lab	76cd3bcc95
20:9371270 PLCB4 T>C	20	9371270	9371270	T	C	PLCB4	c.1323+8T>C	NM_001172646.1	NP_001166117.1:p.?	NC_000020.10:g.9371270T>C	(Likely) benign	1 lab	76cd3f11c5
3:142177949 ATR T>A	3	142177949	142177949	T	A	ATR	c.7354A>T	NM_001184.3	NP_001175.2:p.(Ser2452Cys)	NC_000003.11:g.142177949T>A	VUS	1 lab	76cdbb0536
7:114298286 FOXP2 C>T	7	114298286	114298286	C	T	FOXP2	c.1507C>T	NM_148898.3	NP_683696.2:p.(Arg503Ter)	NC_000007.13:g.114298286C>T	(Likely) pathogenic	1 lab	76cdc43b51
X:40988287 USP9X C>T	X	40988287	40988287	C	T	USP9X	c.131C>T	NM_001039590.2	NP_001034679.2:p.(Pro44Leu)	NC_000023.10:g.40988287C>T	VUS	1 lab	76cee2d08f
17:55189849 AKAP1 T>A	17	55189849	55189849	T	A	AKAP1	c.1976-3T>A	NM_001242903.1	NP_001229832.1:p.?	NC_000017.10:g.55189849T>A	VUS	1 lab	76ceff47b9
19:43420567 PSG6 G>T	19	43420567	43420567	G	T	PSG6	c.137C>A	NM_001031850.3	NP_001027020.1:p.(Ser46Tyr)	NC_000019.9:g.43420567G>T	(Likely) benign	1 lab	76d006d34c
8:63978530 TTPA C>A	8	63978530	63978530	C	A	TTPA	c.485G>T	NM_000370.3	NP_000361.1:p.(Gly162Val)	NC_000008.10:g.63978530C>A	VUS	1 lab	76d12dfaa9
9:123751932 C5 T>C	9	123751932	123751932	T	C	C5	c.3086A>G	NM_001317163.1	NP_001304092.1:p.(His1029Arg)	NC_000009.11:g.123751932T>C	(Likely) benign	1 lab	76d1ef4f7f
17:29486073 NF1 T>TTGATTATATTGGATAC	17	29486073	29486089	T	TTGATTATATTGGATAC	NF1	c.251_266dup	NM_000267.3	NP_000258.1:p.(Leu90AspfsTer22)	NC_000017.10:g.29486074_29486089dup	(Likely) pathogenic	1 lab	76d2bb1466
9:114332443 PTGR1 A>C	9	114332443	114332443	A	C	PTGR1	c.807T>G	NM_001146108.2	NP_001139580.1:p.(Ala269=)	NC_000009.11:g.114332443A>C	(Likely) benign	1 lab	76d2e6bb0c
5:140073833 HARS2 G>A	5	140073833	140073833	G	A	HARS2	c.385G>A	NM_001363535.1	NP_001350464.1:p.(Gly129Arg)	NC_000005.9:g.140073833G>A	VUS	1 lab	76d4d2cf4d
7:117424490 CTTNBP2 G>T	7	117424490	117424490	G	T	CTTNBP2	c.2087C>A	NM_033427.3	NP_219499.1:p.(Thr696Asn)	NC_000007.13:g.117424490G>T	VUS	1 lab	f83f9b076f
6:152646425 SYNE1 C>T	6	152646425	152646425	C	T	SYNE1	c.15451G>A	NM_182961.3	NP_892006.3:p.(Val5151Met)	NC_000006.11:g.152646425C>T	(Likely) benign	1 lab	76d5904eb3
X:17742519 NHS G>A	X	17742519	17742519	G	A	NHS	c.1209G>A	NM_001291867.1	NP_001278796.1:p.(Ser403=)	NC_000023.10:g.17742519G>A	VUS	1 lab	76d5dd077a
3:119121138 ARHGAP31 G>A	3	119121138	119121138	G	A	ARHGAP31	c.1539G>A	NM_020754.3	NP_065805.2:p.(Pro513=)	NC_000003.11:g.119121138G>A	(Likely) benign	1 lab	76d8029b89
15:38643456 SPRED1 T>C	15	38643456	38643456	T	C	SPRED1	c.926T>C	NM_152594.2	NP_689807.1:p.(Val309Ala)	NC_000015.9:g.38643456T>C	(Likely) benign	1 lab	76da4965ee
7:107564742 LAMB1 G>A	7	107564742	107564742	G	A	LAMB1	c.5157C>T	NM_002291.2	NP_002282.2:p.(Ala1719=)	NC_000007.13:g.107564742G>A	(Likely) benign	1 lab	76dd58c072
22:18567926 PEX26 T>C	22	18567926	18567926	T	C	PEX26	c.716T>C	NM_017929.6	NP_060399.1:p.(Leu239Pro)	NC_000022.10:g.18567926T>C	VUS	1 lab	f84278910e
3:49761107 GMPPB G>C	3	49761107	49761107	G	C	GMPPB	c.53C>G	NM_013334.3	NP_037466.2:p.(Thr18Arg)	NC_000003.11:g.49761107G>C	VUS	1 lab	76e2984367
X:15349997 PIGA C>T	X	15349997	15349997	C	T	PIGA	c.56G>A	NM_002641.3	NP_002632.1:p.(Arg19Gln)	NC_000023.10:g.15349997C>T	VUS	1 lab	76e3b298ca
11:71817128 LRTOMT G>A	11	71817128	71817128	G	A	LRTOMT	c.230G>A	NM_001145309.3	NP_001138781.1:p.(Arg77Gln)	NC_000011.9:g.71817128G>A	(Likely) benign	1 lab	76e3d559d5
16:88500629 ZNF469 A>G	16	88500629	88500629	A	G	ZNF469				NC_000016.9:g.88500629A>G	(Likely) benign	1 lab	76e4699b53
9:135782121 TSC1 CTTCT>C	9	135782121	135782127	CTTCT	C	TSC1	c.1431_1434del	NM_000368.5	NP_000359.1:p.(Glu478LysfsTer53)	NC_000009.11:g.135782124_135782127del	(Likely) pathogenic	1 lab	76e644eccc
X:32536143 DMD G>C	X	32536143	32536143	G	C	DMD	c.1905C>G	NM_004010.3	NP_004001.1:p.(Asp635Glu)	NC_000023.10:g.32536143G>C	VUS	1 lab	76e6db4d2a
1:155408558 ASH1L C>T	1	155408558	155408558	C	T	ASH1L	c.5388G>A	NM_018489.3	NP_060959.2:p.(Lys1796=)	NC_000001.10:g.155408558C>T	(Likely) benign	1 lab	76e71ee94e
6:32551875 HLA-DRB1 G>A	6	32551875	32551875	G	A	HLA-DRB1	c.370+11C>T	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32551875G>A	(Likely) benign	1 lab	f8481e09d7
17:18062622 MYO15A G>C	17	18062622	18062622	G	C	MYO15A	c.9190G>C	NM_016239.3	NP_057323.3:p.(Asp3064His)	NC_000017.10:g.18062622G>C	VUS	1 lab	76e905c3d4
X:10188756 CLCN4 G>A	X	10188756	10188756	G	A	CLCN4	c.2031G>A	NM_001830.3	NP_001821.2:p.(Thr677=)	NC_000023.10:g.10188756G>A	VUS	1 lab	76e9d347fb
X:119293222 RHOXF2 G>T	X	119293222	119293222	G	T	RHOXF2	c.381G>T	NM_032498.2	NP_115887.1:p.(Gly127=)	NC_000023.10:g.119293222G>T	(Likely) benign	1 lab	76ed8c202a
5:178564918 ADAMTS2 C>T	5	178564918	178564918	C	T	ADAMTS2	c.1803G>A	NM_014244.4	NP_055059.2:p.(Ser601=)	NC_000005.9:g.178564918C>T	(Likely) benign	1 lab	76ef6ff9f0
10:73270958 CDH23 C>T	10	73270958	73270958	C	T	CDH23	c.418C>T	NM_022124.5	NP_071407.4:p.(Arg140Cys)	NC_000010.10:g.73270958C>T	VUS	1 lab	76f00a6864
16:2134282 TSC2 TG>T	16	2134282	2134284	TG	T	TSC2	c.4061del	NM_000548.5	NP_000539.2:p.(Gly1354AlafsTer29)	NC_000016.9:g.2134284del	(Likely) pathogenic	1 lab	76f01755a5
2:45171724 SIX3 T>C	2	45171724	45171724	T	C	SIX3	c.824T>C	NM_005413.3	NP_005404.1:p.(Ile275Thr)	NC_000002.11:g.45171724T>C	(Likely) benign	1 lab	76f08067a7
X:75648871 MAGEE1 G>T	X	75648871	75648871	G	T	MAGEE1	c.548G>T	NM_020932.2	NP_065983.1:p.(Gly183Val)	NC_000023.10:g.75648871G>T	(Likely) benign	1 lab	76f092a893
5:55253115 IL6ST T>C	5	55253115	55253115	T	C	IL6ST	c.978A>G	NM_002184.4	NP_002175.2:p.(Pro326=)	NC_000005.9:g.55253115T>C	(Likely) benign	1 lab	76f0d70797
17:39727846 KRT9 C>T	17	39727846	39727846	C	T	KRT9	c.399G>A	NM_000226.3	NP_000217.2:p.(Gly133=)	NC_000017.10:g.39727846C>T	(Likely) benign	1 lab	76f1168797
9:131345041 SPTAN1 C>G	9	131345041	131345041	C	G	SPTAN1	c.1719C>G	NM_001130438.3	NP_001123910.1:p.(Phe573Leu)	NC_000009.11:g.131345041C>G	VUS	1 lab	f84b5402dd
4:166981244 TLL1 G>A	4	166981244	166981244	G	A	TLL1	c.1911G>A	NM_012464.4	NP_036596.3:p.(Glu637=)	NC_000004.11:g.166981244G>A	(Likely) benign	1 lab	76f203c165
17:76446435 DNAH17 C>T	17	76446435	76446435	C	T	DNAH17	c.10941G>A	NM_173628.3	NP_775899.3:p.(Ala3647=)	NC_000017.10:g.76446435C>T	(Likely) benign	1 lab	76f21d82a5
21:34775886 IFNGR2 C>T	21	34775886	34775886	C	T	IFNGR2	c.37C>T	NM_001329128.1	NP_001316057.1:p.(Leu13Phe)	NC_000021.8:g.34775886C>T	(Likely) benign	1 lab	76f24047eb
19:15302446 NOTCH3 C>T	19	15302446	15302446	C	T	NOTCH3	c.825G>A	NM_000435.2	NP_000426.2:p.(Val275=)	NC_000019.9:g.15302446C>T	(Likely) benign	1 lab	76f3666eb0
16:28855429 TUFM C>T	16	28855429	28855429	C	T	TUFM	c.923-7G>A	NM_003321.4	NP_003312.3:p.?	NC_000016.9:g.28855429C>T	(Likely) benign	1 lab	76f4c92171
22:32887113 FBXO7 C>T	22	32887113	32887113	C	T	FBXO7	c.912C>T	NM_012179.3	NP_036311.3:p.(Leu304=)	NC_000022.10:g.32887113C>T	(Likely) benign	1 lab	76f4fadd7e
X:49850645 CLCN5 G>A	X	49850645	49850645	G	A	CLCN5	c.942G>A	NM_001127899.3	NP_001121371.1:p.(Ser314=)	NC_000023.10:g.49850645G>A	(Likely) benign	1 lab	76f5781d6d
2:74273666 TET3 G>A	2	74273666	74273666	G	A	TET3	c.622G>A	NM_001287491.2	NP_001274420.1:p.(Glu208Lys)	NC_000002.11:g.74273666G>A	VUS	1 lab	76f79e5bd4
6:152651176 SYNE1 G>A	6	152651176	152651176	G	A	SYNE1	c.14431C>T	NM_033071.4	NP_149062.2:p.(Arg4811Ter)	NC_000006.11:g.152651176G>A	(Likely) pathogenic	1 lab	f84d6fda90
11:1954985 TNNT3 T>C	11	1954985	1954985	T	C	TNNT3	c.2T>C	NM_001367851.1	NP_001354780.1:p.(Met1?)	NC_000011.9:g.1954985T>C	VUS	1 lab	76fa574826
3:51294716 DOCK3 C>T	3	51294716	51294716	C	T	DOCK3	c.2185-2871C>T	NM_004947.5	NP_004938.1:p.?	NC_000003.11:g.51294716C>T	VUS	1 lab	f852aeb8f9
3:48612668 COL7A1 CGTTCTCCCT>C	3	48612668	48612678	CGTTCTCCCT	C	COL7A1	c.6181-2_6187del	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48612670_48612678del	(Likely) pathogenic	1 lab	f85371d64e
11:45946349 LARGE2 C>T	11	45946349	45946349	C	T	LARGE2	c.678C>T	NM_152312.4	NP_689525.3:p.(Ile226=)	NC_000011.9:g.45946349C>T	(Likely) benign	1 lab	76fe06c2a1
5:173416306 C5orf47 C>T	5	173416306	173416306	C	T	C5orf47	c.40C>T	NM_001144954.2	NP_001138426.1:p.(Arg14Cys)	NC_000005.9:g.173416306C>T	VUS	1 lab	76ff2ddfec
17:79478509 ACTG1 G>A	17	79478509	79478509	G	A	ACTG1	c.507C>T	NM_001199954.2	NP_001186883.1:p.(Tyr169=)	NC_000017.10:g.79478509G>A	(Likely) benign	1 lab	7700df6939
X:153216333 HCFC1 G>A	X	153216333	153216333	G	A	HCFC1	c.5634C>T	NM_005334.2	NP_005325.2:p.(Ser1878=)	NC_000023.10:g.153216333G>A	(Likely) benign	1 lab	7701c494ca
X:47487000 CFP G>A	X	47487000	47487000	G	A	CFP	c.444C>T	NM_002621.2	NP_002612.1:p.(Cys148=)	NC_000023.10:g.47487000G>A	(Likely) benign	1 lab	7702556b33
11:47312244 MADD C>T	11	47312244	47312244	C	T	MADD	c.3238C>T	NM_003682.3	NP_003673.3:p.(Pro1080Ser)	NC_000011.9:g.47312244C>T	(Likely) benign	1 lab	770393f65b
X:57619064 ZXDB T>C	X	57619064	57619064	T	C	ZXDB	c.583T>C	NM_007157.3	NP_009088.1:p.(Trp195Arg)	NC_000023.10:g.57619064T>C	(Likely) benign	1 lab	7704afd06e
17:73739848 ITGB4 A>T	17	73739848	73739848	A	T	ITGB4	c.3017A>T	NM_000213.4	NP_000204.3:p.(Gln1006Leu)	NC_000017.10:g.73739848A>T	(Likely) benign	1 lab	770940305b
9:92002494 SEMA4D G>C	9	92002494	92002494	G	C	SEMA4D	c.1137C>G	NM_006378.4	NP_006369.3:p.(Asn379Lys)	NC_000009.11:g.92002494G>C	VUS	1 lab	f85407755f
15:63942099 HERC1 C>G	15	63942099	63942099	C	G	HERC1	c.10572G>C	NM_003922.3	NP_003913.3:p.(Gln3524His)	NC_000015.9:g.63942099C>G	VUS	1 lab	770b278762
5:150932778 FAT2 G>A	5	150932778	150932778	G	A	FAT2	c.4116C>T	NM_001447.2	NP_001438.1:p.(Ser1372=)	NC_000005.9:g.150932778G>A	(Likely) benign	1 lab	770b2e7735
5:131324516 ACSL6 G>A	5	131324516	131324516	G	A	ACSL6	c.634C>T	NM_001009185.2	NP_001009185.1:p.(Arg212Cys)	NC_000005.9:g.131324516G>A	VUS	1 lab	770d831e2f
13:32936721 BRCA2 C>T	13	32936721	32936721	C	T	BRCA2	c.7867C>T	NM_000059.4	NP_000050.3:p.(His2623Tyr)	NC_000013.10:g.32936721C>T	VUS	1 lab	f8551fe0b5
8:95877787 INTS8 T>C	8	95877787	95877787	T	C	INTS8	c.2130T>C	NM_017864.3	NP_060334.2:p.(Ser710=)	NC_000008.10:g.95877787T>C	(Likely) benign	1 lab	770ed5bacd
1:2338151 PEX10 G>A	1	2338151	2338151	G	A	PEX10	c.836+8C>T	NM_153818.1	NP_722540.1:p.?	NC_000001.10:g.2338151G>A	(Likely) benign	1 lab	770f721152
5:149776159 TCOF1 A>C	5	149776159	149776159	A	C	TCOF1	c.4096A>C	NM_001135243.1	NP_001128715.1:p.(Lys1366Gln)	NC_000005.9:g.149776159A>C	(Likely) benign	1 lab	770fc2764e
1:3327967 PRDM16 C>T	1	3327967	3327967	C	T	PRDM16	c.1206C>T	NM_022114.3	NP_071397.3:p.(Ser402=)	NC_000001.10:g.3327967C>T	(Likely) benign	1 lab	7711dbcc1b
5:112179339 APC T>G	5	112179339	112179339	T	G	APC				NC_000005.9:g.112179339T>G	VUS	1 lab	7713cb3d2c
19:33333228 SLC7A9 TAGAA>T	19	33333228	33333236	TAGAA	T	SLC7A9	c.1075-9_1075-6del	NM_014270.5	NP_055085.1:p.?	NC_000019.9:g.33333233_33333236del	(Likely) benign	1 lab	7716506b34
6:407553 IRF4 A>G	6	407553	407553	A	G	IRF4	c.1311A>G	NM_002460.3	NP_002451.2:p.(Pro437=)	NC_000006.11:g.407553A>G	(Likely) benign	1 lab	771676f372
11:5730705 TRIM22 C>T	11	5730705	5730705	C	T	TRIM22	c.1312C>T	NM_001199573.1	NP_001186502.1:p.(Arg438Cys)	NC_000011.9:g.5730705C>T	VUS	1 lab	771ca17f49
2:200298072 SATB2 GC>G	2	200298072	200298074	GC	G	SATB2	c.334del	NM_001172509.2	NP_001165980.1:p.(Ala112ProfsTer6)	NC_000002.11:g.200298074del	(Likely) pathogenic	1 lab	771d74c1eb
3:171392328 PLD1 T>A	3	171392328	171392328	T	A	PLD1	c.2191A>T	NM_002662.5	NP_002653.1:p.(Arg731Ter)	NC_000003.11:g.171392328T>A	(Likely) pathogenic	1 lab	f85563aae8
15:45394138 DUOX2 C>T	15	45394138	45394138	C	T	DUOX2	c.2704G>A	NM_001363711.1	NP_001350640.1:p.(Glu902Lys)	NC_000015.9:g.45394138C>T	VUS	1 lab	77212473cf
2:196866433 DNAH7 A>C	2	196866433	196866433	A	C	DNAH7	c.1139T>G	NM_018897.3	NP_061720.2:p.(Met380Arg)	NC_000002.11:g.196866433A>C	(Likely) benign	1 lab	7722a10f73
3:38354499 SLC22A14 G>A	3	38354499	38354499	G	A	SLC22A14	c.954G>A	NM_004803.4	NP_004794.2:p.(Pro318=)	NC_000003.11:g.38354499G>A	(Likely) benign	1 lab	7724ce060e
17:34074049 GAS2L2 C>A	17	34074049	34074049	C	A	GAS2L2	c.1071G>T	NM_139285.3	NP_644814.1:p.(Met357Ile)	NC_000017.10:g.34074049C>A	(Likely) benign	1 lab	7724def5c1
20:57429340 GNAS C>T	20	57429340	57429340	C	T	GNAS	c.833C>T	NM_001077490.2	NP_001070958.1:p.(Pro278Leu)	NC_000020.10:g.57429340C>T	(Likely) benign	1 lab	77263da8d7
X:47917974 ZNF630 T>G	X	47917974	47917974	T	G	ZNF630	c.1857A>C	NM_001282201.1	NP_001269130.1:p.(Arg619Ser)	NC_000023.10:g.47917974T>G	VUS	1 lab	7727be6a52
19:45856565 ERCC2 T>G	19	45856565	45856565	T	G	ERCC2	c.1693A>C	NM_000400.3	NP_000391.1:p.(Lys565Gln)	NC_000019.9:g.45856565T>G	VUS	1 lab	772a22ae5c
10:64949209 JMJD1C A>G	10	64949209	64949209	A	G	JMJD1C	c.6292-3T>C	NM_032776.2	NP_116165.1:p.?	NC_000010.10:g.64949209A>G	(Likely) benign	1 lab	772a6c808a
7:103848318 ORC5 T>C	7	103848318	103848318	T	C	ORC5	c.35A>G	NM_002553.3	NP_002544.1:p.(Glu12Gly)	NC_000007.13:g.103848318T>C	VUS	1 lab	772ae5ab71
15:34537918 SLC12A6 C>A	15	34537918	34537918	C	A	SLC12A6	c.1800G>T	NM_133647.1	NP_598408.1:p.(Lys600Asn)	NC_000015.9:g.34537918C>A	VUS	1 lab	772afd346d
3:170611183 EIF5A2 T>TCATTGCACACATGA	3	170611183	170611186	T	TCATTGCACACATGA	EIF5A2	c.427_428insTCATGTGTGCAATG	NM_020390.6	NP_065123.1:p.(Glu143ValfsTer10)	NC_000003.11:g.170611185_170611186insTTGCACACATGACA	VUS	1 lab	772c0e8100
12:21327509 SLCO1B1 A>G	12	21327509	21327509	A	G	SLCO1B1	c.227-2A>G	NM_006446.4	NP_006437.3:p.?	NC_000012.11:g.21327509A>G	(Likely) pathogenic	1 lab	772e72fee0
7:103191708 RELN C>T	7	103191708	103191708	C	T	RELN	c.6108G>A	NM_173054.2	NP_774959.1:p.(Ala2036=)	NC_000007.13:g.103191708C>T	(Likely) benign	1 lab	772f78af6a
17:29677357 NF1 A>G	17	29677357	29677357	A	G	NF1	c.7394+21A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29677357A>G	(Likely) benign	1 lab	7731ec83ee
13:32912744 BRCA2 A>G	13	32912744	32912744	A	G	BRCA2	c.4252A>G	NM_000059.3	NP_000050.2:p.(Ile1418Val)	NC_000013.10:g.32912744A>G	(Likely) benign	1 lab	7733a2ead6
8:90982803 NBN C>T	8	90982803	90982803	C	T	NBN	c.703-18G>A	NM_002485.4	NP_002476.2:p.?	NC_000008.10:g.90982803C>T	(Likely) benign	1 lab	77371eb129
5:92929301 NR2F1 A>G	5	92929301	92929301	A	G	NR2F1	c.1025A>G	NM_005654.5	NP_005645.1:p.(Glu342Gly)	NC_000005.9:g.92929301A>G	VUS	1 lab	773975dd19
X:24381616 SUPT20HL1 G>C	X	24381616	24381616	G	C	SUPT20HL1	c.817G>C	NM_001136234.2	NP_001129706.2:p.(Val273Leu)	NC_000023.10:g.24381616G>C	VUS	1 lab	773a9844e3
8:105459627 DPYS G>A	8	105459627	105459627	G	A	DPYS	c.528C>T	NM_001385.2	NP_001376.1:p.(Tyr176=)	NC_000008.10:g.105459627G>A	(Likely) benign	1 lab	773dfc5668
15:64448226 PPIB TC>T	15	64448226	64448228	TC	T	PPIB	c.646del	NM_000942.5	NP_000933.1:p.(Glu216SerfsTer58)	NC_000015.9:g.64448228del	VUS	1 lab	77416d88b3
X:136649762 ZIC3 G>A	X	136649762	136649762	G	A	ZIC3	c.912G>A	NM_003413.3	NP_003404.1:p.(Arg304=)	NC_000023.10:g.136649762G>A	(Likely) benign	1 lab	7742107477
17:18022779 MYO15A C>G	17	18022779	18022779	C	G	MYO15A	c.665C>G	NM_016239.3	NP_057323.3:p.(Ser222Trp)	NC_000017.10:g.18022779C>G	VUS	1 lab	7742528766
19:50189442 PRMT1 G>C	19	50189442	50189442	G	C	PRMT1	c.852G>C	NM_001536.5	NP_001527.3:p.(Leu284=)	NC_000019.9:g.50189442G>C	(Likely) benign	1 lab	7742fe944e
1:16451766 EPHA2 C>T	1	16451766	16451766	C	T	EPHA2	c.2875G>A	NM_004431.4	NP_004422.2:p.(Ala959Thr)	NC_000001.10:g.16451766C>T	VUS	1 lab	7743005394
13:32950912 BRCA2 A>G	13	32950912	32950912	A	G	BRCA2	c.8738A>G	NM_000059.3	NP_000050.2:p.(Asp2913Gly)	NC_000013.10:g.32950912A>G	VUS	1 lab	77452e39b3
13:77566160 CLN5 T>C	13	77566160	77566160	T	C	CLN5	c.74T>C	NM_006493.2	NP_006484.1:p.(Leu25Pro)	NC_000013.10:g.77566160T>C	(Likely) benign	1 lab	774626db64
16:14649543 PARN T>C	16	14649543	14649543	T	C	PARN	c.1286A>G	NM_002582.4	NP_002573.1:p.(Asp429Gly)	NC_000016.9:g.14649543T>C	VUS	1 lab	7746b6b9d1
14:76329999 TTLL5 TTTCTC>T	14	76329999	76330007	TTTCTC	T	TTLL5	c.3327-7_3327-3del	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76330003_76330007del	(Likely) benign	1 lab	7746caced9
21:45707007 AIRE G>A	21	45707007	45707007	G	A	AIRE				NC_000021.8:g.45707007G>A	(Likely) benign	1 lab	77473cff14
19:9525294 ZNF266 C>T	19	9525294	9525294	C	T	ZNF266	c.307G>A	NM_006631.3	NP_006622.2:p.(Glu103Lys)	NC_000019.9:g.9525294C>T	VUS	1 lab	77496f110a
X:130417148 IGSF1 T>C	X	130417148	130417148	T	C	IGSF1	c.758A>G	NM_001170961.1	NP_001164432.1:p.(Tyr253Cys)	NC_000023.10:g.130417148T>C	(Likely) benign	1 lab	774a20e9df
X:32481585 DMD T>C	X	32481585	32481585	T	C	DMD	c.3034A>G	NM_004010.3	NP_004001.1:p.(Asn1012Asp)	NC_000023.10:g.32481585T>C	VUS	1 lab	774a68b8be
17:65944279 BPTF C>T	17	65944279	65944279	C	T	BPTF	c.7783C>T	NM_182641.4	NP_872579.2:p.(Arg2595Cys)	NC_000017.10:g.65944279C>T	VUS	1 lab	774b586853
17:34797685 MISSING G>T	17	34797685	34797685	G	T	MISSING				NC_000017.10:g.34797685G>T	(Likely) benign	1 lab	774c8a8bb7
1:43908297 SZT2 C>A	1	43908297	43908297	C	A	SZT2	c.7980+8C>A	NM_015284.3	NP_056099.3:p.?	NC_000001.10:g.43908297C>A	(Likely) benign	1 lab	774cb18580
14:57070588 TMEM260 C>T	14	57070588	57070588	C	T	TMEM260	c.400C>T	NM_017799.4	NP_060269.3:p.(Arg134Cys)	NC_000014.8:g.57070588C>T	VUS	1 lab	774d23d440
17:39021137 KRT12 G>A	17	39021137	39021137	G	A	KRT12	c.728C>T	NM_000223.4	NP_000214.1:p.(Thr243Ile)	NC_000017.10:g.39021137G>A	(Likely) benign	1 lab	774db377eb
X:31089770 FTHL17 T>C	X	31089770	31089770	T	C	FTHL17	c.301A>G	NM_031894.2	NP_114100.1:p.(Met101Val)	NC_000023.10:g.31089770T>C	(Likely) benign	1 lab	774e051088
12:122907059 CLIP1 C>A	12	122907059	122907059	C	A	CLIP1	c.-107+9G>T	NM_001247997.1	NP_001234926.1:p.?	NC_000012.11:g.122907059C>A	(Likely) benign	1 lab	774efea884
X:48925015 CCDC120 C>T	X	48925015	48925015	C	T	CCDC120				NC_000023.10:g.48925015C>T	(Likely) benign	1 lab	774f7b3f9e
16:602502 CAPN15 G>A	16	602502	602502	G	A	CAPN15	c.2709G>A	NM_005632.3	NP_005623.1:p.(Pro903=)	NC_000016.9:g.602502G>A	(Likely) benign	1 lab	775086c73a
17:29664534 NF1 TGAGA>T	17	29664534	29664544	TGAGA	T	NF1	c.6583_6586del	NM_001042492.3	NP_001035957.1:p.(Glu2195LeufsTer4)	NC_000017.10:g.29664541_29664544del	(Likely) pathogenic	1 lab	7750e94c5c
2:233712109 GIGYF2 A>G	2	233712109	233712109	A	G	GIGYF2	c.3512A>G	NM_015575.3	NP_056390.2:p.(His1171Arg)	NC_000002.11:g.233712109A>G	VUS	1 lab	7750fc1220
6:24809980 RIPOR2 A>G	6	24809980	24809980	A	G	RIPOR2	c.3071T>C	NM_014722.4	NP_055537.2:p.(Ile1024Thr)	NC_000006.11:g.24809980A>G	VUS	1 lab	7752fcec05
X:106844144 FRMPD3 G>T	X	106844144	106844144	G	T	FRMPD3	c.2974G>T	NM_032428.2	NP_115804.1:p.(Ala992Ser)	NC_000023.10:g.106844144G>T	(Likely) benign	1 lab	77533be5af
X:66937442 AR G>T	X	66937442	66937442	G	T	AR	c.2296G>T	NM_000044.4	NP_000035.2:p.(Ala766Ser)	NC_000023.10:g.66937442G>T	(Likely) pathogenic	1 lab	7753fb8ad7
7:107323986 SLC26A4 A>G	7	107323986	107323986	A	G	SLC26A4	c.1001+4A>G	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107323986A>G	(Likely) pathogenic	1 lab	775464c528
2:223158829 PAX3 T>C	2	223158829	223158829	T	C	PAX3	c.643A>G	NM_000438.5	NP_000429.2:p.(Ser215Gly)	NC_000002.11:g.223158829T>C	(Likely) benign	1 lab	7754ddac72
14:60519924 LRRC9 GTAA>G	14	60519924	60519931	GTAA	G	LRRC9	c.4131+6_4131+8del	NM_001395648.1	NP_001382577.1:p.?	NC_000014.8:g.60519929_60519931del	(Likely) benign	1 lab	775512786d
5:157159969 THG1L G>A	5	157159969	157159969	G	A	THG1L	c.285G>A	NM_017872.5	NP_060342.2:p.(Glu95=)	NC_000005.9:g.157159969G>A	VUS	1 lab	775586c3f8
9:94123985 AUH G>T	9	94123985	94123985	G	T	AUH	c.187C>A	NM_001698.2	NP_001689.1:p.(Pro63Thr)	NC_000009.11:g.94123985G>T	(Likely) benign	1 lab	775658f0d2
6:70951140 COL9A1 C>A	6	70951140	70951140	C	A	COL9A1	c.2016G>T	NM_001851.4	NP_001842.3:p.(Pro672=)	NC_000006.11:g.70951140C>A	(Likely) benign	1 lab	7758527ece
20:57429891 GNAS G>A	20	57429891	57429891	G	A	GNAS	c.1384G>A	NM_001077490.2	NP_001070958.1:p.(Ala462Thr)	NC_000020.10:g.57429891G>A	(Likely) benign	1 lab	7758671032
7:105206093 RINT1 A>G	7	105206093	105206093	A	G	RINT1	c.2184A>G	NM_021930.5	NP_068749.3:p.(Lys728=)	NC_000007.13:g.105206093A>G	(Likely) benign	1 lab	77591e8619
1:153651710 NPR1 G>C	1	153651710	153651710	G	C	NPR1	c.126G>C	NM_000906.4	NP_000897.3:p.(Pro42=)	NC_000001.10:g.153651710G>C	(Likely) benign	1 lab	77599fffc4
X:132440085 GPC4 G>GTA	X	132440085	132440087	G	GTA	GPC4	c.974_975insTA	NM_001448.2	NP_001439.2:p.(Met326ThrfsTer69)	NC_000023.10:g.132440086_132440087insAT	VUS	1 lab	7759ba638d
1:78401706 NEXN C>T	1	78401706	78401706	C	T	NEXN	c.1450C>T	NM_144573.3	NP_653174.3:p.(Arg484Ter)	NC_000001.10:g.78401706C>T	VUS	1 lab	775affe207
18:6955426 LAMA1 G>A	18	6955426	6955426	G	A	LAMA1	c.8133C>T	NM_005559.3	NP_005550.2:p.(Pro2711=)	NC_000018.9:g.6955426G>A	(Likely) benign	1 lab	775b5f48d6
5:79950699 MSH3 TGCAGCGGCTGCAGCGGCC>T	5	79950699	79950725	TGCAGCGGCTGCAGCGGCC	T	MSH3	c.162_179del	NM_002439.5	NP_002430.3:p.(Ala57_Ala62del)	NC_000005.9:g.79950708_79950725del	(Likely) benign	1 lab	f8581ef49d
18:7009293 LAMA1 C>T	18	7009293	7009293	C	T	LAMA1	c.3946G>A	NM_005559.3	NP_005550.2:p.(Asp1316Asn)	NC_000018.9:g.7009293C>T	(Likely) benign	1 lab	775d44d817
15:41191998 VPS18 A>G	15	41191998	41191998	A	G	VPS18	c.982A>G	NM_020857.3	NP_065908.1:p.(Ile328Val)	NC_000015.9:g.41191998A>G	VUS	1 lab	775d4c8279
1:169439227 SLC19A2 G>A	1	169439227	169439227	G	A	SLC19A2	c.1005C>T	NM_006996.2	NP_008927.1:p.(Gly335=)	NC_000001.10:g.169439227G>A	(Likely) benign	1 lab	775e175dda
21:46924374 COL18A1 G>A	21	46924374	46924374	G	A	COL18A1	c.4017G>A	NM_130444.3	NP_569711.2:p.(Arg1339=)	NC_000021.8:g.46924374G>A	(Likely) benign	1 lab	775f837ed7
20:10632283 JAG1 G>C	20	10632283	10632283	G	C	JAG1	c.1066C>G	NM_000214.3	NP_000205.1:p.(Leu356Val)	NC_000020.10:g.10632283G>C	(Likely) benign	1 lab	7762491ab6
17:7509490 FXR2 G>GA	17	7509490	7509491	G	GA	FXR2	c.82-24_82-23insT	NM_004860.3	NP_004851.2:p.?	NC_000017.10:g.7509490_7509491insA	(Likely) benign	1 lab	776268a430
9:135781383 TSC1 CCT>C	9	135781383	135781385	CCT	C	TSC1	c.1580_1581del	NM_000368.5	NP_000359.1:p.(Gln527ArgfsTer7)	NC_000009.11:g.135781384_135781385del	(Likely) pathogenic	1 lab	776488f6d3
6:43014814 CUL7 C>T	6	43014814	43014814	C	T	CUL7	c.2453G>A	NM_001168370.1	NP_001161842.1:p.(Arg818His)	NC_000006.11:g.43014814C>T	(Likely) benign	1 lab	7765450323
21:47811184 PCNT G>A	21	47811184	47811184	G	A	PCNT	c.4109G>A	NM_006031.5	NP_006022.3:p.(Arg1370Gln)	NC_000021.8:g.47811184G>A	(Likely) benign	1 lab	7765cfeee4
19:38933103 RYR1 C>T	19	38933103	38933103	C	T	RYR1	c.270+10C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38933103C>T	(Likely) benign	1 lab	77665168cc
1:36759520 THRAP3 G>A	1	36759520	36759520	G	A	THRAP3	c.2099G>A	NM_001321471.1	NP_001308400.1:p.(Arg700Gln)	NC_000001.10:g.36759520G>A	VUS	1 lab	77674dc89d
4:124235036 AFG2A A>C	4	124235036	124235036	A	C	AFG2A	c.2506-7A>C	NM_145207.2	NP_660208.2:p.?	NC_000004.11:g.124235036A>C	(Likely) benign	1 lab	77677b9980
17:1580883 PRPF8 T>G	17	1580883	1580883	T	G	PRPF8	c.1960A>C	NM_006445.3	NP_006436.3:p.(Asn654His)	NC_000017.10:g.1580883T>G	VUS	1 lab	776895547d
3:25635058 RARB C>T	3	25635058	25635058	C	T	RARB	c.851C>T	NM_000965.5	NP_000956.2:p.(Thr284Ile)	NC_000003.11:g.25635058C>T	VUS	1 lab	f859e71880
2:179585778 TTN G>A	2	179585778	179585778	G	A	TTN	c.22968C>T	NM_001267550.1	NP_001254479.1:p.(Asn7656=)	NC_000002.11:g.179585778G>A	(Likely) benign	1 lab	77694beed1
16:84486833 ATP2C2 G>T	16	84486833	84486833	G	T	ATP2C2	c.1921G>T	NM_001286527.2	NP_001273456.2:p.(Val641Leu)	NC_000016.9:g.84486833G>T	VUS	1 lab	7769ecff12
12:57431366 MYO1A C>T	12	57431366	57431366	C	T	MYO1A	c.2021G>A	NM_001256041.1	NP_001242970.1:p.(Gly674Asp)	NC_000012.11:g.57431366C>T	VUS	1 lab	776b4af461
14:91739149 CCDC88C C>T	14	91739149	91739149	C	T	CCDC88C	c.5907G>A	NM_001080414.3	NP_001073883.2:p.(Pro1969=)	NC_000014.8:g.91739149C>T	(Likely) benign	1 lab	776b56f60d
19:1391134 NDUFS7 C>T	19	1391134	1391134	C	T	NDUFS7	c.425C>T	NM_024407.4	NP_077718.3:p.(Pro142Leu)	NC_000019.9:g.1391134C>T	VUS	1 lab	776bf15ae5
2:179439789 TTN A>T	2	179439789	179439789	A	T	TTN	c.71070T>A	NM_001267550.1	NP_001254479.1:p.(Ile23690=)	NC_000002.11:g.179439789A>T	(Likely) benign	1 lab	776e33c8d7
1:3347451 PRDM16 C>T	1	3347451	3347451	C	T	PRDM16	c.3300C>T	NM_022114.3	NP_071397.3:p.(Ile1100=)	NC_000001.10:g.3347451C>T	(Likely) benign	1 lab	776fa79f6c
X:41075634 USP9X A>T	X	41075634	41075634	A	T	USP9X	c.5814A>T	NM_001039590.2	NP_001034679.2:p.(Ser1938=)	NC_000023.10:g.41075634A>T	(Likely) benign	1 lab	7770cbc5d9
2:233633157 KCNJ13 T>G	2	233633157	233633157	T	G	KCNJ13	c.827A>C	NM_002242.4	NP_002233.2:p.(Glu276Ala)	NC_000002.11:g.233633157T>G	VUS	1 lab	7772ed99c0
9:88292393 AGTPBP1 T>C	9	88292393	88292393	T	C	AGTPBP1	c.394A>G	NM_001330701.1	NP_001317630.1:p.(Met132Val)	NC_000009.11:g.88292393T>C	(Likely) benign	1 lab	777458f032
10:75757995 VCL G>A	10	75757995	75757995	G	A	VCL	c.30G>A	NM_014000.2	NP_054706.1:p.(Glu10=)	NC_000010.10:g.75757995G>A	(Likely) benign	1 lab	7775faf255
19:13414402 CACNA1A G>C	19	13414402	13414402	G	C	CACNA1A	c.2133C>G	NM_023035.2	NP_075461.2:p.(Ala711=)	NC_000019.9:g.13414402G>C	(Likely) benign	1 lab	777725feab
17:7906414 GUCY2D T>C	17	7906414	7906414	T	C	GUCY2D	c.49T>C	NM_000180.3	NP_000171.1:p.(Cys17Arg)	NC_000017.10:g.7906414T>C	(Likely) benign	1 lab	7777f5df59
1:16383668 CLCNKB T>G	1	16383668	16383668	T	G	CLCNKB	c.*257T>G	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16383668T>G	(Likely) benign	1 lab	f85ba35156
6:28251687 PGBD1 C>T	6	28251687	28251687	C	T	PGBD1	c.97C>T	NM_001184743.1	NP_001171672.1:p.(Gln33Ter)	NC_000006.11:g.28251687C>T	VUS	1 lab	7778e71c25
17:29509582 NF1 A>T	17	29509582	29509582	A	T	NF1	c.787A>T	NM_000267.3	NP_000258.1:p.(Lys263Ter)	NC_000017.10:g.29509582A>T	(Likely) pathogenic	1 lab	77795ac4f3
10:134599075 NKX6-2 G>C	10	134599075	134599075	G	C	NKX6-2	c.378C>G	NM_177400.3	NP_796374.2:p.(Pro126=)	NC_000010.10:g.134599075G>C	(Likely) benign	1 lab	7779898c51
X:48418124 TBC1D25 G>A	X	48418124	48418124	G	A	TBC1D25	c.654G>A	NM_001348265.1	NP_001335194.1:p.(Ala218=)	NC_000023.10:g.48418124G>A	(Likely) benign	1 lab	777af365cd
2:165561557 COBLL1 G>A	2	165561557	165561557	G	A	COBLL1	c.1253C>T	NM_001278458.1	NP_001265387.1:p.(Ala418Val)	NC_000002.11:g.165561557G>A	(Likely) benign	1 lab	777baf0955
19:54313683 NLRP12 C>T	19	54313683	54313683	C	T	NLRP12	c.1230G>A	NM_001277126.1	NP_001264055.1:p.(Val410=)	NC_000019.9:g.54313683C>T	VUS	1 lab	777cc0dec3
7:5958495 CCZ1 C>T	7	5958495	5958495	C	T	CCZ1	c.955-3C>T	NM_015622.5	NP_056437.4:p.?	NC_000007.13:g.5958495C>T	(Likely) benign	1 lab	777dfa8533
12:43771352 ADAMTS20 C>T	12	43771352	43771352	C	T	ADAMTS20	c.4811G>A	NM_025003.4	NP_079279.3:p.(Cys1604Tyr)	NC_000012.11:g.43771352C>T	VUS	1 lab	777f94c57e
6:7568799 DSP C>T	6	7568799	7568799	C	T	DSP	c.1396C>T	NM_004415.2	NP_004406.2:p.(Leu466Phe)	NC_000006.11:g.7568799C>T	VUS	1 lab	777ff21094
16:2137867 TSC2 C>T	16	2137867	2137867	C	T	TSC2	c.4993C>T	NM_000548.3	NP_000539.2:p.(Gln1665Ter)	NC_000016.9:g.2137867C>T	(Likely) pathogenic	1 lab	77801e1112
2:113157241 RGPD8 T>C	2	113157241	113157241	T	C	RGPD8	c.2023A>G	NM_001164463.1	NP_001157935.1:p.(Lys675Glu)	NC_000002.11:g.113157241T>C	(Likely) benign	1 lab	778087b025
7:5427467 TNRC18 G>A	7	5427467	5427467	G	A	TNRC18	c.1988C>T	NM_001080495.2	NP_001073964.2:p.(Ala663Val)	NC_000007.13:g.5427467G>A	(Likely) benign	1 lab	7780959c64
11:124766097 ROBO4 G>T	11	124766097	124766097	G	T	ROBO4	c.676C>A	NM_019055.5	NP_061928.4:p.(Gln226Lys)	NC_000011.9:g.124766097G>T	(Likely) benign	1 lab	7780e4186c
X:49032537 PRICKLE3 T>A	X	49032537	49032537	T	A	PRICKLE3	c.1333A>T	NM_006150.4	NP_006141.2:p.(Ser445Cys)	NC_000023.10:g.49032537T>A	VUS	1 lab	77813da8cb
X:26235532 MAGEB5 T>C	X	26235532	26235532	T	C	MAGEB5	c.114T>C	NM_001271752.1	NP_001258681.1:p.(Asn38=)	NC_000023.10:g.26235532T>C	(Likely) benign	1 lab	7782901dd3
17:29585367 NF1 TA>T	17	29585367	29585368	TA	T	NF1	c.4180del	NM_001042492.3	NP_001035957.1:p.(Ser1394AlafsTer12)	NC_000017.10:g.29585368del	(Likely) pathogenic	1 lab	77847a25a1
6:51751928 PKHD1 T>C	6	51751928	51751928	T	C	PKHD1	c.7109+3A>G	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51751928T>C	VUS	1 lab	7784d2b9f5
20:34099318 CEP250 G>A	20	34099318	34099318	G	A	CEP250	c.7192G>A	NM_007186.5	NP_009117.2:p.(Val2398Met)	NC_000020.10:g.34099318G>A	VUS	1 lab	77856e9a82
9:131864278 CRAT A>G	9	131864278	131864278	A	G	CRAT	c.626T>C	NM_004003.3	NP_003994.2:p.(Phe209Ser)	NC_000009.11:g.131864278A>G	VUS	1 lab	77867d6cf3
17:40135657 DNAJC7 G>T	17	40135657	40135657	G	T	DNAJC7	c.843-3C>A	NM_001144766.2	NP_001138238.1:p.?	NC_000017.10:g.40135657G>T	VUS	1 lab	7786e3758d
17:42429429 GRN CGT>C	17	42429429	42429435	CGT	C	GRN	c.1231_1232del	NM_002087.4	NP_002078.1:p.(Val411SerfsTer2)	NC_000017.10:g.42429434_42429435del	(Likely) pathogenic	1 lab	77889a3e93
12:113379649 OAS3 A>G	12	113379649	113379649	A	G	OAS3	c.452A>G	NM_006187.4	NP_006178.2:p.(Asn151Ser)	NC_000012.11:g.113379649A>G	VUS	1 lab	7789f5f015
15:62243174 VPS13C G>A	15	62243174	62243174	G	A	VPS13C	c.4506C>T	NM_001018088.2	NP_001018098.1:p.(Asp1502=)	NC_000015.9:g.62243174G>A	(Likely) benign	1 lab	778a0610e1
10:61822873 ANK3 A>C	10	61822873	61822873	A	C	ANK3	c.12591T>G	NM_020987.5	NP_066267.2:p.(Val4197=)	NC_000010.10:g.61822873A>C	(Likely) benign	1 lab	778a26d8dd
6:170597400 DLL1 G>A	6	170597400	170597400	G	A	DLL1	c.597C>T	NM_005618.3	NP_005609.3:p.(Phe199=)	NC_000006.11:g.170597400G>A	(Likely) benign	1 lab	778aac4eec
21:43809073 TMPRSS3 G>A	21	43809073	43809073	G	A	TMPRSS3	c.287C>T	NM_024022.2	NP_076927.1:p.(Ser96Leu)	NC_000021.8:g.43809073G>A	(Likely) benign	1 lab	778b034c10
3:49139122 QARS1 G>A	3	49139122	49139122	G	A	QARS1	c.720C>T	NM_005051.2	NP_005042.1:p.(Thr240=)	NC_000003.11:g.49139122G>A	(Likely) benign	1 lab	778b519994
11:17631504 OTOG G>T	11	17631504	17631504	G	T	OTOG	c.4693G>T	NM_001277269.1	NP_001264198.1:p.(Gly1565Ter)	NC_000011.9:g.17631504G>T	(Likely) pathogenic	1 lab	778cd5ed93
16:81954867 PLCG2 C>T	16	81954867	81954867	C	T	PLCG2	c.2300C>T	NM_002661.5	NP_002652.2:p.(Pro767Leu)	NC_000016.9:g.81954867C>T	VUS	1 lab	f85db3c663
X:53577940 HUWE1 G>A	X	53577940	53577940	G	A	HUWE1	c.9307C>T	NM_031407.7	NP_113584.3:p.(Arg3103Trp)	NC_000023.10:g.53577940G>A	VUS	1 lab	f85e7689ee
2:58453862 FANCL C>G	2	58453862	58453862	C	G	FANCL	c.273+1G>C	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58453862C>G	(Likely) pathogenic	1 lab	779036436c
3:50334695 NAA80 C>G	3	50334695	50334695	C	G	NAA80	c.200G>C	NM_001200016.1	NP_001186945.1:p.(Arg67Pro)	NC_000003.11:g.50334695C>G	(Likely) benign	1 lab	7790f72d32
X:128699779 OCRL T>C	X	128699779	128699779	T	C	OCRL	c.1278T>C	NM_001318784.1	NP_001305713.1:p.(Tyr426=)	NC_000023.10:g.128699779T>C	(Likely) benign	1 lab	7791df026a
20:43254264 ADA G>A	20	43254264	43254264	G	A	ADA	c.424C>T	NM_000022.2	NP_000013.2:p.(Arg142Ter)	NC_000020.10:g.43254264G>A	(Likely) pathogenic	1 lab	779223ace6
6:32024369 TNXB C>A	6	32024369	32024369	C	A	TNXB	c.8137G>T	NM_019105.6	NP_061978.6:p.(Val2713Leu)	NC_000006.11:g.32024369C>A	(Likely) benign	1 lab	77929f44d7
16:67682414 CARMIL2 C>T	16	67682414	67682414	C	T	CARMIL2	c.1439+9C>T	NM_001013838.2	NP_001013860.1:p.?	NC_000016.9:g.67682414C>T	(Likely) benign	1 lab	7792a7cc75
X:109698508 RTL9 C>T	X	109698508	109698508	C	T	RTL9	c.4126C>T	NM_020769.2	NP_065820.1:p.(Gln1376Ter)	NC_000023.10:g.109698508C>T	VUS	1 lab	7793e0c8f5
X:49082401 CACNA1F C>T	X	49082401	49082401	C	T	CACNA1F	c.1654G>A	NM_005183.3	NP_005174.2:p.(Gly552Arg)	NC_000023.10:g.49082401C>T	VUS	1 lab	7794284e76
5:58334820 PDE4D G>A	5	58334820	58334820	G	A	PDE4D	c.115C>T	NM_001197222.1	NP_001184151.1:p.(Pro39Ser)	NC_000005.9:g.58334820G>A	VUS	1 lab	7794707a5e
8:61769122 CHD7 G>A	8	61769122	61769122	G	A	CHD7				NC_000008.10:g.61769122G>A	VUS	1 lab	7794aee4ee
16:89805045 FANCA A>C	16	89805045	89805045	A	C	FANCA	c.4332T>G	NM_000135.2	NP_000126.2:p.(Pro1444=)	NC_000016.9:g.89805045A>C	(Likely) benign	1 lab	779575c1b5
3:123674937 CCDC14 C>T	3	123674937	123674937	C	T	CCDC14	c.185G>A	NM_001366335.1	NP_001353264.1:p.(Gly62Asp)	NC_000003.11:g.123674937C>T	VUS	1 lab	77994c0fbc
10:85972113 CDHR1 A>AAG	10	85972113	85972117	A	AAG	CDHR1	c.1735_1736dup	NM_033100.4	NP_149091.1:p.(Ser579ArgfsTer10)	NC_000010.10:g.85972116_85972117dup	(Likely) pathogenic	1 lab	779a2ffb6d
22:21348854 LZTR1 G>A	22	21348854	21348854	G	A	LZTR1	c.1623G>A	NM_006767.3	NP_006758.2:p.(Val541=)	NC_000022.10:g.21348854G>A	(Likely) benign	1 lab	779a801e36
17:71192890 COG1 G>A	17	71192890	71192890	G	A	COG1	c.560G>A	NM_018714.3	NP_061184.1:p.(Arg187Gln)	NC_000017.10:g.71192890G>A	VUS	1 lab	f863849d40
12:52841590 KRT6B G>A	12	52841590	52841590	G	A	KRT6B	c.1396C>T	NM_005555.4	NP_005546.2:p.(Arg466Cys)	NC_000012.11:g.52841590G>A	(Likely) benign	1 lab	f863ab177a
7:151878194 KMT2C G>A	7	151878194	151878194	G	A	KMT2C	c.6751C>T	NM_170606.2	NP_733751.2:p.(Leu2251=)	NC_000007.13:g.151878194G>A	(Likely) benign	1 lab	779e578837
16:10788645 TEKT5 G>A	16	10788645	10788645	G	A	TEKT5	c.86C>T	NM_144674.1	NP_653275.1:p.(Ala29Val)	NC_000016.9:g.10788645G>A	VUS	1 lab	779f7f8b5a
21:47851470 PCNT C>T	21	47851470	47851470	C	T	PCNT	c.8092C>T	NM_006031.5	NP_006022.3:p.(Arg2698Cys)	NC_000021.8:g.47851470C>T	(Likely) benign	1 lab	77a0e52c15
1:22965348 C1QA C>T	1	22965348	22965348	C	T	C1QA	c.186C>T	NM_001347465.1	NP_001334394.1:p.(Gly62=)	NC_000001.10:g.22965348C>T	VUS	1 lab	77a0e58b61
11:26574886 ANO3 T>C	11	26574886	26574886	T	C	ANO3	c.1563T>C	NM_001313726.1	NP_001300655.1:p.(Tyr521=)	NC_000011.9:g.26574886T>C	(Likely) benign	1 lab	77a136f6e2
15:90174825 KIF7 G>A	15	90174825	90174825	G	A	KIF7	c.3012C>T	NM_198525.2	NP_940927.2:p.(Arg1004=)	NC_000015.9:g.90174825G>A	(Likely) benign	1 lab	77a1d8da5f
X:50351001 SHROOM4 G>A	X	50351001	50351001	G	A	SHROOM4	c.3141C>T	NM_020717.3	NP_065768.2:p.(Ala1047=)	NC_000023.10:g.50351001G>A	(Likely) benign	1 lab	77a4386436
17:1635680 WDR81 C>G	17	1635680	1635680	C	G	WDR81	c.4219C>G	NM_001163809.1	NP_001157281.1:p.(Leu1407Val)	NC_000017.10:g.1635680C>G	VUS	1 lab	77a5ab7af3
3:132424576 NPHP3 A>G	3	132424576	132424576	A	G	NPHP3	c.1350+8T>C	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132424576A>G	(Likely) benign	1 lab	77a96484dc
4:107248644 AIMP1 G>A	4	107248644	107248644	G	A	AIMP1	c.146G>A	NM_004757.3	NP_004748.2:p.(Arg49Gln)	NC_000004.11:g.107248644G>A	(Likely) benign	1 lab	77a97326cb
7:4820847 AP5Z1 T>A	7	4820847	4820847	T	A	AP5Z1	c.83T>A	NM_014855.3	NP_055670.1:p.(Ile28Asn)	NC_000007.13:g.4820847T>A	VUS	1 lab	78a903bc47
3:12626130 RAF1 T>C	3	12626130	12626130	T	C	RAF1	c.1830A>G	NM_002880.3	NP_002871.1:p.(Gln610=)	NC_000003.11:g.12626130T>C	(Likely) benign	1 lab	77ae58e1b0
12:122702843 DIABLO C>T	12	122702843	122702843	C	T	DIABLO	c.126G>A	NM_001278304.1	NP_001265233.1:p.(Ala42=)	NC_000012.11:g.122702843C>T	(Likely) benign	1 lab	77ae7d8504
15:25584352 UBE3A T>TTGAG	15	25584352	25584357	T	TTGAG	UBE3A	c.2487_2490dup	NM_130838.1	NP_570853.1:p.(Ser831LeufsTer7)	NC_000015.9:g.25584354_25584357dup	(Likely) pathogenic	1 lab	77ae95f3f4
Y:14971280 USP9Y G>A	Y	14971280	14971280	G	A	USP9Y	c.7607G>A	NM_004654.3	NP_004645.2:p.(Arg2536Gln)	NC_000024.9:g.14971280G>A	(Likely) benign	1 lab	77aeb1b138
22:41572542 EP300 G>A	22	41572542	41572542	G	A	EP300	c.5061+10G>A	NM_001429.3	NP_001420.2:p.?	NC_000022.10:g.41572542G>A	(Likely) benign	1 lab	77aedc6095
5:156899406 NIPAL4 G>A	5	156899406	156899406	G	A	NIPAL4	c.653G>A	NM_001099287.2	NP_001092757.2:p.(Arg218His)	NC_000005.9:g.156899406G>A	VUS	1 lab	f8649cd6fa
X:44929287 KDM6A C>T	X	44929287	44929287	C	T	KDM6A	c.2543C>T	NM_001291415.1	NP_001278344.1:p.(Thr848Ile)	NC_000023.10:g.44929287C>T	VUS	1 lab	77b111345f
3:121386414 GOLGB1 C>T	3	121386414	121386414	C	T	GOLGB1	c.9346G>A	NM_001256487.1	NP_001243416.1:p.(Val3116Met)	NC_000003.11:g.121386414C>T	(Likely) benign	1 lab	77b122faed
3:150377871 ERICH6 T>G	3	150377871	150377871	T	G	ERICH6	c.1800A>C	NM_152394.5	NP_689607.2:p.(Leu600Phe)	NC_000003.11:g.150377871T>G	VUS	1 lab	77b223b47c
11:118213271 CD3D G>T	11	118213271	118213271	G	T	CD3D	c.52C>A	NM_000732.4	NP_000723.1:p.(Gln18Lys)	NC_000011.9:g.118213271G>T	(Likely) benign	1 lab	77b2324749
17:6380377 PITPNM3 T>C	17	6380377	6380377	T	C	PITPNM3	c.1057A>G	NM_031220.3	NP_112497.2:p.(Ile353Val)	NC_000017.10:g.6380377T>C	VUS	1 lab	77b29f7639
15:40917199 KNL1 A>G	15	40917199	40917199	A	G	KNL1	c.4815A>G	NM_170589.4	NP_733468.3:p.(Leu1605=)	NC_000015.9:g.40917199A>G	(Likely) benign	1 lab	77b2ba983d
5:149247314 PDE6A G>A	5	149247314	149247314	G	A	PDE6A	c.2248C>T	NM_000440.3	NP_000431.2:p.(Arg750Cys)	NC_000005.9:g.149247314G>A	VUS	1 lab	f86575fbd1
18:76757173 SALL3 C>A	18	76757173	76757173	C	A	SALL3	c.3754C>A	NM_171999.3	NP_741996.2:p.(Pro1252Thr)	NC_000018.9:g.76757173C>A	(Likely) benign	1 lab	77b2cf9e0e
19:36595885 WDR62 G>A	19	36595885	36595885	G	A	WDR62	c.4527G>A	NM_001083961.1	NP_001077430.1:p.(Ser1509=)	NC_000019.9:g.36595885G>A	(Likely) benign	1 lab	77b33881e1
3:14214452 XPC T>C	3	14214452	14214452	T	C	XPC	c.214A>G	NM_004628.4	NP_004619.3:p.(Lys72Glu)	NC_000003.11:g.14214452T>C	(Likely) benign	1 lab	77b342390b
17:29652885 NF1 T>TA	17	29652885	29652886	T	TA	NF1	c.4821dup	NM_000267.3	NP_000258.1:p.(Leu1608ThrfsTer12)	NC_000017.10:g.29652886dup	(Likely) pathogenic	1 lab	77b3a483ac
9:131339735 SPTAN1 G>T	9	131339735	131339735	G	T	SPTAN1	c.1035G>T	NM_001363759.1	NP_001350688.1:p.(Gln345His)	NC_000009.11:g.131339735G>T	VUS	1 lab	77b58440c7
X:135861653 ARHGEF6 A>G	X	135861653	135861653	A	G	ARHGEF6	c.169T>C	NM_004840.2	NP_004831.1:p.(Cys57Arg)	NC_000023.10:g.135861653A>G	(Likely) benign	1 lab	77b72444be
22:19864742 TXNRD2 A>G	22	19864742	19864742	A	G	TXNRD2	c.1461T>C	NM_006440.3	NP_006431.2:p.(Tyr487=)	NC_000022.10:g.19864742A>G	(Likely) benign	1 lab	77b7613e5b
10:124094419 BTBD16 G>C	10	124094419	124094419	G	C	BTBD16	c.1191G>C	NM_001318189.1	NP_001305118.1:p.(Thr397=)	NC_000010.10:g.124094419G>C	(Likely) benign	1 lab	77b7d693c6
9:133954644 LAMC3 G>A	9	133954644	133954644	G	A	LAMC3	c.3886G>A	NM_006059.3	NP_006050.3:p.(Ala1296Thr)	NC_000009.11:g.133954644G>A	VUS	1 lab	77b8b4111b
16:50745960 NOD2 G>A	16	50745960	50745960	G	A	NOD2	c.2138G>A	NM_022162.1	NP_071445.1:p.(Arg713His)	NC_000016.9:g.50745960G>A	(Likely) benign	1 lab	77b97b97b8
13:32914875 BRCA2 A>C	13	32914875	32914875	A	C	BRCA2	c.6383A>C	NM_000059.3	NP_000050.2:p.(Lys2128Thr)	NC_000013.10:g.32914875A>C	(Likely) benign	1 lab	77b9a19a2f
X:153649044 TAFAZZIN C>G	X	153649044	153649044	C	G	TAFAZZIN	c.747C>G	NM_000116.3	NP_000107.1:p.(Leu249=)	NC_000023.10:g.153649044C>G	(Likely) benign	1 lab	77bc2ff51d
X:9733811 GPR143 G>T	X	9733811	9733811	G	T	GPR143	c.47C>A	NM_000273.2	NP_000264.2:p.(Ala16Glu)	NC_000023.10:g.9733811G>T	(Likely) benign	1 lab	77bc9de656
X:108631873 GUCY2F GC>G	X	108631873	108631874	GC	G	GUCY2F	c.2800del	NM_001522.3	NP_001513.2:p.(Ala934ProfsTer25)	NC_000023.10:g.108631874del	VUS	1 lab	77befd6ca8
4:126336562 FAT4 T>C	4	126336562	126336562	T	C	FAT4	c.6444T>C	NM_001291303.1	NP_001278232.1:p.(Asn2148=)	NC_000004.11:g.126336562T>C	(Likely) benign	1 lab	77c389e496
15:62242586 VPS13C T>C	15	62242586	62242586	T	C	VPS13C	c.4567A>G	NM_001018088.2	NP_001018098.1:p.(Ile1523Val)	NC_000015.9:g.62242586T>C	(Likely) benign	1 lab	77c3bf0342
9:139836670 FBXW5 G>A	9	139836670	139836670	G	A	FBXW5	c.924C>T	NM_018998.4	NP_061871.1:p.(Arg308=)	NC_000009.11:g.139836670G>A	(Likely) benign	1 lab	77c40083dd
10:124600814 CUZD1 C>A	10	124600814	124600814	C	A	CUZD1	c.113G>T	NM_022034.6	NP_071317.2:p.(Gly38Val)	NC_000010.10:g.124600814C>A	VUS	1 lab	77c589fc3b
6:90605475 GJA10 G>A	6	90605475	90605475	G	A	GJA10	c.1288G>A	NM_032602.1	NP_115991.1:p.(Ala430Thr)	NC_000006.11:g.90605475G>A	(Likely) benign	1 lab	77c5f23d2d
11:65292699 SCYL1 G>A	11	65292699	65292699	G	A	SCYL1	c.75G>A	NM_020680.3	NP_065731.3:p.(Leu25=)	NC_000011.9:g.65292699G>A	(Likely) benign	1 lab	77c69165a9
19:1221333 STK11 C>A	19	1221333	1221333	C	A	STK11	c.856C>A	NM_000455.4	NP_000446.1:p.(Leu286Met)	NC_000019.9:g.1221333C>A	(Likely) pathogenic	1 lab	77c7882c47
3:37070380 MLH1 T>C	3	37070380	37070380	T	C	MLH1	c.1515T>C	NM_000249.3	NP_000240.1:p.(Ser505=)	NC_000003.11:g.37070380T>C	(Likely) benign	1 lab	77c7ba1d8a
2:58449180 FANCL G>A	2	58449180	58449180	G	A	FANCL	c.274-3C>T	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58449180G>A	(Likely) benign	1 lab	77c7c988b5
19:36592566 WDR62 A>T	19	36592566	36592566	A	T	WDR62	c.2972A>T	NM_001083961.1	NP_001077430.1:p.(Asp991Val)	NC_000019.9:g.36592566A>T	VUS	1 lab	77c844e069
5:60194098 ERCC8 C>G	5	60194098	60194098	C	G	ERCC8	c.843+5G>C	NM_000082.3	NP_000073.1:p.?	NC_000005.9:g.60194098C>G	(Likely) pathogenic	1 lab	77caddf625
X:153222402 HCFC1 A>T	X	153222402	153222402	A	T	HCFC1	c.2463T>A	NM_005334.2	NP_005325.2:p.(Ile821=)	NC_000023.10:g.153222402A>T	(Likely) benign	1 lab	77cb311ab4
22:32241136 DEPDC5 C>T	22	32241136	32241136	C	T	DEPDC5	c.2934C>T	NM_001242896.2	NP_001229825.1:p.(Asp978=)	NC_000022.10:g.32241136C>T	(Likely) benign	1 lab	77cc148d14
3:114069521 ZBTB20 C>T	3	114069521	114069521	C	T	ZBTB20	c.1404G>A	NM_001348803.1	NP_001335732.1:p.(Gln468=)	NC_000003.11:g.114069521C>T	(Likely) benign	1 lab	77cd1a6a66
10:50952769 OGDHL AC>A	10	50952769	50952770	AC	A	OGDHL	c.1658del	NM_018245.3	NP_060715.2:p.(Cys553LeufsTer16)	NC_000010.10:g.50952770del	VUS	1 lab	77d0d7abf2
X:100604919 BTK T>C	X	100604919	100604919	T	C	BTK	c.2036A>G	NM_001287344.1	NP_001274273.1:p.(Lys679Arg)	NC_000023.10:g.100604919T>C	VUS	1 lab	77d2064908
X:85211316 CHM A>G	X	85211316	85211316	A	G	CHM	c.1008T>C	NM_000390.2	NP_000381.1:p.(Ile336=)	NC_000023.10:g.85211316A>G	(Likely) benign	1 lab	77d259cf52
12:11546622 MISSING T>A	12	11546622	11546622	T	A	MISSING				NC_000012.11:g.11546622T>A	(Likely) benign	1 lab	77d2cd3651
16:85695174 GSE1 A>C	16	85695174	85695174	A	C	GSE1	c.2063A>C	NM_014615.4	NP_055430.1:p.(Gln688Pro)	NC_000016.9:g.85695174A>C	VUS	1 lab	77d54a57cc
10:13743408 FRMD4A A>G	10	13743408	13743408	A	G	FRMD4A	c.1006T>C	NM_001318337.1	NP_001305266.1:p.(Leu336=)	NC_000010.10:g.13743408A>G	(Likely) benign	1 lab	77d5695f0f
3:46009982 FYCO1 G>C	3	46009982	46009982	G	C	FYCO1	c.844C>G	NM_024513.3	NP_078789.2:p.(Arg282Gly)	NC_000003.11:g.46009982G>C	VUS	1 lab	77d6ca7d66
16:16330772 NOMO3 C>G	16	16330772	16330772	C	G	NOMO3	c.180C>G	NM_001004067.4	NP_001004067.1:p.(Thr60=)	NC_000016.9:g.16330772C>G	(Likely) benign	1 lab	77d728bf06
1:64240125 ROR1 C>A	1	64240125	64240125	C	A	ROR1	c.37C>A	NM_005012.3	NP_005003.2:p.(Leu13Ile)	NC_000001.10:g.64240125C>A	(Likely) benign	1 lab	77d729fb56
X:19701953 SH3KBP1 C>A	X	19701953	19701953	C	A	SH3KBP1	c.789G>T	NM_001353891.1	NP_001340820.1:p.(Leu263=)	NC_000023.10:g.19701953C>A	(Likely) benign	1 lab	77d73f6317
2:202137619 CASP8 A>G	2	202137619	202137619	A	G	CASP8	c.728-2A>G	NM_001080125.1	NP_001073594.1:p.?	NC_000002.11:g.202137619A>G	VUS	1 lab	77d77ce536
6:63990415 LGSN T>A	6	63990415	63990415	T	A	LGSN	c.620A>T	NM_001143940.1	NP_001137412.1:p.(Asp207Val)	NC_000006.11:g.63990415T>A	(Likely) benign	1 lab	77d7d4b0af
11:17598141 OTOG C>A	11	17598141	17598141	C	A	OTOG	c.2561C>A	NM_001277269.1	NP_001264198.1:p.(Pro854His)	NC_000011.9:g.17598141C>A	VUS	1 lab	77dd08649a
X:134987532 SAGE1 C>T	X	134987532	134987532	C	T	SAGE1	c.435C>T	NM_018666.2	NP_061136.2:p.(Ser145=)	NC_000023.10:g.134987532C>T	(Likely) benign	1 lab	77dd9754df
7:99704060 AP4M1 G>A	7	99704060	99704060	G	A	AP4M1	c.1060G>A	NM_004722.3	NP_004713.2:p.(Ala354Thr)	NC_000007.13:g.99704060G>A	VUS	1 lab	77dea82d70
15:89867123 POLG GTTC>G	15	89867123	89867130	GTTC	G	POLG	c.2077_2079del	NM_002693.3	NP_002684.1:p.(Glu693del)	NC_000015.9:g.89867128_89867130del	VUS	1 lab	77deb53f3f
6:135507087 MYB C>A	6	135507087	135507087	C	A	MYB	c.70C>A	NM_001130173.1	NP_001123645.1:p.(His24Asn)	NC_000006.11:g.135507087C>A	VUS	1 lab	77df8fa185
16:22144257 VWA3A G>A	16	22144257	22144257	G	A	VWA3A	c.1909G>A	NM_173615.4	NP_775886.3:p.(Gly637Ser)	NC_000016.9:g.22144257G>A	(Likely) benign	1 lab	77e0b5d368
2:1497662 TPO C>G	2	1497662	1497662	C	G	TPO	c.1857C>G	NM_000547.5	NP_000538.3:p.(Ala619=)	NC_000002.11:g.1497662C>G	(Likely) benign	1 lab	77e3876e1d
14:51223392 NIN T>C	14	51223392	51223392	T	C	NIN	c.4356A>G	NM_020921.3	NP_065972.3:p.(Ala1452=)	NC_000014.8:g.51223392T>C	(Likely) benign	1 lab	77e4cc4976
7:103234114 RELN C>G	7	103234114	103234114	C	G	RELN	c.3912+15G>C	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103234114C>G	(Likely) benign	1 lab	77e50e59f6
16:85952321 IRF8 C>T	16	85952321	85952321	C	T	IRF8	c.900C>T	NM_002163.2	NP_002154.1:p.(Ser300=)	NC_000016.9:g.85952321C>T	(Likely) benign	1 lab	77e616d1d5
16:2115615 TSC2 GGGGCTTCTGGTCATCCTTCA>G	16	2115615	2115637	GGGGCTTCTGGTCATCCTTCA	G	TSC2	c.1698_1716+1del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2115618_2115637del	(Likely) pathogenic	1 lab	77e6449e7e
2:231036795 SP110 G>A	2	231036795	231036795	G	A	SP110	c.1802C>T	NM_080424.2	NP_536349.2:p.(Pro601Leu)	NC_000002.11:g.231036795G>A	(Likely) benign	1 lab	77e6f95a35
1:152191476 HRNR C>T	1	152191476	152191476	C	T	HRNR	c.2629G>A	NM_001009931.2	NP_001009931.1:p.(Ala877Thr)	NC_000001.10:g.152191476C>T	(Likely) benign	1 lab	77e9536040
X:63005007 ARHGEF9 C>T	X	63005007	63005007	C	T	ARHGEF9	c.19G>A	NM_001173479.1	NP_001166950.1:p.(Gly7Arg)	NC_000023.10:g.63005007C>T	VUS	1 lab	77e95c8e98
X:148037433 AFF2 A>G	X	148037433	148037433	A	G	AFF2	c.1858A>G	NM_002025.3	NP_002016.2:p.(Thr620Ala)	NC_000023.10:g.148037433A>G	(Likely) benign	1 lab	77eaae5306
1:1168393 B3GALT6 G>C	1	1168393	1168393	G	C	B3GALT6	c.735G>C	NM_080605.4	NP_542172.2:p.(Leu245=)	NC_000001.10:g.1168393G>C	(Likely) benign	1 lab	77eaba098d
16:1642478 IFT140 G>T	16	1642478	1642478	G	T	IFT140	c.481C>A	NM_014714.3	NP_055529.2:p.(Pro161Thr)	NC_000016.9:g.1642478G>T	VUS	1 lab	77ecdbac4f
18:43514843 EPG5 A>G	18	43514843	43514843	A	G	EPG5	c.2189T>C	NM_020964.3	NP_066015.2:p.(Val730Ala)	NC_000018.9:g.43514843A>G	(Likely) benign	1 lab	77f01e390e
6:70983762 COL9A1 C>T	6	70983762	70983762	C	T	COL9A1	c.1053G>A	NM_001851.4	NP_001842.3:p.(Ser351=)	NC_000006.11:g.70983762C>T	(Likely) benign	1 lab	77f0e31129
X:69669713 DLG3 C>A	X	69669713	69669713	C	A	DLG3	c.703+4C>A	NM_021120.3	NP_066943.2:p.?	NC_000023.10:g.69669713C>A	(Likely) benign	1 lab	77f151e56f
X:153649264 TAFAZZIN C>G	X	153649264	153649264	C	G	TAFAZZIN	c.800C>G	NM_000116.5	NP_000107.1:p.(Thr267Arg)	NC_000023.10:g.153649264C>G	(Likely) pathogenic	1 lab	f868d17053
19:4409496 CHAF1A A>G	19	4409496	4409496	A	G	CHAF1A	c.700A>G	NM_005483.3	NP_005474.2:p.(Lys234Glu)	NC_000019.9:g.4409496A>G	VUS	1 lab	77f54c4502
7:44685124 OGDH C>T	7	44685124	44685124	C	T	OGDH	c.414+7C>T	NM_001363523.1	NP_001350452.1:p.?	NC_000007.13:g.44685124C>T	(Likely) benign	1 lab	77f5b2ecfe
18:43481026 EPG5 T>C	18	43481026	43481026	T	C	EPG5	c.4581A>G	NM_020964.3	NP_066015.2:p.(Leu1527=)	NC_000018.9:g.43481026T>C	(Likely) benign	1 lab	77f5eb36b7
13:32936729 BRCA2 A>T	13	32936729	32936729	A	T	BRCA2	c.7875A>T	NM_000059.4	NP_000050.3:p.(Arg2625Ser)	NC_000013.10:g.32936729A>T	(Likely) pathogenic	1 lab	f869382a30
12:9000135 A2ML1 C>T	12	9000135	9000135	C	T	A2ML1	c.1684-10C>T	NM_144670.5	NP_653271.2:p.?	NC_000012.11:g.9000135C>T	(Likely) benign	1 lab	77f8596d6b
19:42479959 ATP1A3 G>A	19	42479959	42479959	G	A	ATP1A3	c.2134-10C>T	NM_001256214.1	NP_001243143.1:p.?	NC_000019.9:g.42479959G>A	(Likely) benign	1 lab	77fc23ac7e
13:26043245 ATP8A2 C>T	13	26043245	26043245	C	T	ATP8A2	c.207C>T	NM_016529.5	NP_057613.4:p.(Arg69=)	NC_000013.10:g.26043245C>T	(Likely) benign	1 lab	77fc7cee38
17:43364541 MAP3K14 C>T	17	43364541	43364541	C	T	MAP3K14	c.516G>A	NM_003954.5	NP_003945.2:p.(Glu172=)	NC_000017.10:g.43364541C>T	(Likely) benign	1 lab	77fca9f31b
19:50098068 PRR12 G>A	19	50098068	50098068	G	A	PRR12	c.476G>A	NM_020719.3	NP_065770.1:p.(Ser159Asn)	NC_000019.9:g.50098068G>A	VUS	1 lab	f86b6de89d
12:114803969 TBX5 C>G	12	114803969	114803969	C	G	TBX5	c.982+1G>C	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114803969C>G	(Likely) pathogenic	1 lab	77fd446dec
11:66460429 SPTBN2 C>T	11	66460429	66460429	C	T	SPTBN2	c.4985+12G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66460429C>T	(Likely) benign	1 lab	77fd99eff7
1:114453877 DCLRE1B A>G	1	114453877	114453877	A	G	DCLRE1B	c.663A>G	NM_022836.4	NP_073747.1:p.(Thr221=)	NC_000001.10:g.114453877A>G	(Likely) benign	1 lab	77fe93e2b2
1:881627 NOC2L G>A	1	881627	881627	G	A	NOC2L	c.1843C>T	NM_015658.4	NP_056473.3:p.(Leu615=)	NC_000001.10:g.881627G>A	(Likely) benign	1 lab	77fec5a5b3
19:5039936 KDM4B G>A	19	5039936	5039936	G	A	KDM4B	c.231G>A	NM_015015.3	NP_055830.1:p.(Thr77=)	NC_000019.9:g.5039936G>A	(Likely) benign	1 lab	77ff17cc93
X:108718430 GUCY2F A>G	X	108718430	108718430	A	G	GUCY2F	c.730+6T>C	NM_001522.2	NP_001513.2:p.?	NC_000023.10:g.108718430A>G	VUS	1 lab	77ffe63376
X:100653773 GLA C>T	X	100653773	100653773	C	T	GLA	c.801G>A	NM_000169.2	NP_000160.1:p.(Met267Ile)	NC_000023.10:g.100653773C>T	(Likely) pathogenic	1 lab	77ffeec7aa
7:121680897 PTPRZ1 C>T	7	121680897	121680897	C	T	PTPRZ1	c.5665C>T	NM_002851.2	NP_002842.2:p.(Arg1889Cys)	NC_000007.13:g.121680897C>T	VUS	1 lab	7801329803
16:72828631 ZFHX3 C>T	16	72828631	72828631	C	T	ZFHX3	c.7950G>A	NM_006885.3	NP_008816.3:p.(Pro2650=)	NC_000016.9:g.72828631C>T	(Likely) benign	1 lab	7801586d40
11:76804847 CAPN5 G>A	11	76804847	76804847	G	A	CAPN5	c.285G>A	NM_004055.4	NP_004046.2:p.(Ser95=)	NC_000011.9:g.76804847G>A	(Likely) benign	1 lab	7802358837
X:50376252 SHROOM4 G>A	X	50376252	50376252	G	A	SHROOM4	c.2821C>T	NM_020717.3	NP_065768.2:p.(Pro941Ser)	NC_000023.10:g.50376252G>A	(Likely) benign	1 lab	78069e15af
X:53561636 HUWE1 C>T	X	53561636	53561636	C	T	HUWE1	c.12672G>A	NM_031407.6	NP_113584.3:p.(Ala4224=)	NC_000023.10:g.53561636C>T	(Likely) benign	1 lab	78085b6646
1:19212007 ALDH4A1 G>A	1	19212007	19212007	G	A	ALDH4A1	c.413C>T	NM_003748.4	NP_003739.2:p.(Pro138Leu)	NC_000001.10:g.19212007G>A	(Likely) benign	1 lab	7808e9f3f6
6:170873705 TBP C>T	6	170873705	170873705	C	T	TBP	c.570C>T	NM_003194.4	NP_003185.1:p.(Ala190=)	NC_000006.11:g.170873705C>T	(Likely) benign	1 lab	7809cafdc4
15:101791359 CHSY1 C>G	15	101791359	101791359	C	G	CHSY1	c.303G>C	NM_014918.5	NP_055733.2:p.(Arg101=)	NC_000015.9:g.101791359C>G	(Likely) benign	1 lab	f86f024778
9:100222858 TDRD7 G>A	9	100222858	100222858	G	A	TDRD7	c.1254G>A	NM_014290.2	NP_055105.2:p.(Gly418=)	NC_000009.11:g.100222858G>A	(Likely) benign	1 lab	780bf3ff0e
1:228345597 GJC2 C>G	1	228345597	228345597	C	G	GJC2	c.138C>G	NM_020435.3	NP_065168.2:p.(Ile46Met)	NC_000001.10:g.228345597C>G	VUS	1 lab	780e0dc380
17:27805366 TAOK1 G>C	17	27805366	27805366	G	C	TAOK1	c.449+1G>C	NM_020791.2	NP_065842.1:p.?	NC_000017.10:g.27805366G>C	VUS	1 lab	780f35ba79
1:197072106 ASPM T>A	1	197072106	197072106	T	A	ASPM	c.6275A>T	NM_018136.4	NP_060606.3:p.(Asn2092Ile)	NC_000001.10:g.197072106T>A	(Likely) benign	1 lab	78101349f4
2:108921143 SULT1C2 C>A	2	108921143	108921143	C	A	SULT1C2	c.522C>A	NM_176825.2	NP_789795.1:p.(Phe174Leu)	NC_000002.11:g.108921143C>A	VUS	1 lab	781039c15a
X:151820210 GABRQ T>A	X	151820210	151820210	T	A	GABRQ	c.1123T>A	NM_018558.3	NP_061028.3:p.(Tyr375Asn)	NC_000023.10:g.151820210T>A	VUS	1 lab	7814cb846f
4:73185054 ADAMTS3 A>G	4	73185054	73185054	A	G	ADAMTS3	c.1347T>C	NM_014243.2	NP_055058.2:p.(Tyr449=)	NC_000004.11:g.73185054A>G	(Likely) benign	1 lab	7815035c55
X:29973895 IL1RAPL1 G>A	X	29973895	29973895	G	A	IL1RAPL1	c.2049G>A	NM_014271.3	NP_055086.1:p.(Pro683=)	NC_000023.10:g.29973895G>A	(Likely) benign	1 lab	78151976cf
11:76918377 MYO7A A>G	11	76918377	76918377	A	G	MYO7A	c.5786A>G	NM_000260.3	NP_000251.3:p.(Gln1929Arg)	NC_000011.9:g.76918377A>G	VUS	1 lab	7815a06d6e
16:89831346 FANCA G>C	16	89831346	89831346	G	C	FANCA	c.2730C>G	NM_001286167.2	NP_001273096.1:p.(Leu910=)	NC_000016.9:g.89831346G>C	(Likely) benign	1 lab	7816d60df5
6:163148690 PRKN G>A	6	163148690	163148690	G	A	PRKN	c.7+4C>T	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.163148690G>A	(Likely) benign	1 lab	78170fc63c
7:128040190 IMPDH1 G>A	7	128040190	128040190	G	A	IMPDH1	c.833C>T	NM_000883.3	NP_000874.2:p.(Thr278Met)	NC_000007.13:g.128040190G>A	VUS	1 lab	78185629a9
8:68070754 CSPP1 C>T	8	68070754	68070754	C	T	CSPP1	c.2299C>T	NM_024790.6	NP_079066.5:p.(Arg767Trp)	NC_000008.10:g.68070754C>T	VUS	1 lab	781914c766
X:73740921 SLC16A2 C>T	X	73740921	73740921	C	T	SLC16A2	c.527C>T	NM_006517.4	NP_006508.2:p.(Ala176Val)	NC_000023.10:g.73740921C>T	(Likely) benign	1 lab	781b3cb58f
10:38304957 ZNF33A C>T	10	38304957	38304957	C	T	ZNF33A	c.47C>T	NM_001278173.1	NP_001265102.1:p.(Pro16Leu)	NC_000010.10:g.38304957C>T	(Likely) benign	1 lab	781cf4ffc4
5:140248693 PCDHA11 T>C	5	140248693	140248693	T	C	PCDHA11	c.5T>C	NM_018902.4	NP_061725.1:p.(Phe2Ser)	NC_000005.9:g.140248693T>C	(Likely) benign	1 lab	781ddf1c59
X:11316959 AMELX G>T	X	11316959	11316959	G	T	AMELX	c.478G>T	NM_182680.1	NP_872621.1:p.(Val160Leu)	NC_000023.10:g.11316959G>T	(Likely) benign	1 lab	781eaa97c3
7:151921190 KMT2C C>T	7	151921190	151921190	C	T	KMT2C	c.3233G>A	NM_170606.3	NP_733751.2:p.(Cys1078Tyr)	NC_000007.13:g.151921190C>T	(Likely) pathogenic	1 lab	f87720c37f
13:32907533 BRCA2 G>C	13	32907533	32907533	G	C	BRCA2	c.1909+9G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32907533G>C	(Likely) benign	1 lab	78250ad0f1
X:47485928 CFP C>T	X	47485928	47485928	C	T	CFP	c.941-10G>A	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47485928C>T	(Likely) benign	1 lab	78262f479c
17:29509682 NF1 A>G	17	29509682	29509682	A	G	NF1	c.887A>G	NM_000267.3	NP_000258.1:p.(Lys296Arg)	NC_000017.10:g.29509682A>G	VUS	1 lab	7826761907
4:88536862 DSPP TAATAGTAGTGACAGCAGC>T	4	88536862	88536885	TAATAGTAGTGACAGCAGC	T	DSPP	c.3054_3071del	NM_014208.3	NP_055023.2:p.(Asn1029_Ser1034del)	NC_000004.11:g.88536868_88536885del	VUS	1 lab	7826f36e5f
17:29508796 NF1 T>TA	17	29508796	29508797	T	TA	NF1	c.724dup	NM_000267.3	NP_000258.1:p.(Met242AsnfsTer3)	NC_000017.10:g.29508797dup	(Likely) pathogenic	1 lab	7829609736
11:102094424 YAP1 C>T	11	102094424	102094424	C	T	YAP1	c.1116C>T	NM_001282101.1	NP_001269030.1:p.(Pro372=)	NC_000011.9:g.102094424C>T	(Likely) benign	1 lab	782c7b5248
8:41834751 KAT6A C>A	8	41834751	41834751	C	A	KAT6A	c.1138G>T	NM_006766.4	NP_006757.2:p.(Glu380Ter)	NC_000008.10:g.41834751C>A	(Likely) benign	1 lab	782e14e026
14:58897419 KIAA0586 GAAC>G	14	58897419	58897427	GAAC	G	KIAA0586	c.366_368del	NM_001244189.2	NP_001231118.1:p.(Asn122del)	NC_000014.8:g.58897425_58897427del	VUS	1 lab	f87ab84f2f
10:102770538 PDZD7 CT>C	10	102770538	102770540	CT	C	PDZD7	c.2107del	NM_001195263.2	NP_001182192.1:p.(Ser703ValfsTer20)	NC_000010.10:g.102770540del	(Likely) pathogenic	1 lab	782e8deb48
5:102523050 PPIP5K2 A>G	5	102523050	102523050	A	G	PPIP5K2	c.3370A>G	NM_001281471.2	NP_001268400.1:p.(Ile1124Val)	NC_000005.9:g.102523050A>G	VUS	1 lab	782f68be2e
17:32963173 TMEM132E C>G	17	32963173	32963173	C	G	TMEM132E	c.2125C>G	NM_001304438.1	NP_001291367.1:p.(Leu709Val)	NC_000017.10:g.32963173C>G	(Likely) benign	1 lab	782f80dd27
5:147503524 SPINK5 G>A	5	147503524	147503524	G	A	SPINK5	c.2666+1G>A	NM_001127698.1	NP_001121170.1:p.?	NC_000005.9:g.147503524G>A	VUS	1 lab	782feba83e
X:47060386 UBA1 C>T	X	47060386	47060386	C	T	UBA1	c.574C>T	NM_003334.4	NP_003325.2:p.(Arg192Trp)	NC_000023.10:g.47060386C>T	VUS	1 lab	78300b7e94
11:1282744 MUC5B T>C	11	1282744	1282744	T	C	MUC5B	c.17195T>C	NM_002458.2	NP_002449.2:p.(Val5732Ala)	NC_000011.9:g.1282744T>C	VUS	1 lab	7830a4cf81
X:49114895 FOXP3 G>A	X	49114895	49114895	G	A	FOXP3	c.68C>T	NM_014009.3	NP_054728.2:p.(Ser23Leu)	NC_000023.10:g.49114895G>A	(Likely) benign	1 lab	7830fc605a
16:2160683 PKD1 G>A	16	2160683	2160683	G	A	PKD1	c.4485C>T	NM_001009944.2	NP_001009944.2:p.(Pro1495=)	NC_000016.9:g.2160683G>A	(Likely) benign	1 lab	7831aedb8c
13:26621063 SHISA2 C>T	13	26621063	26621063	C	T	SHISA2	c.476G>A	NM_001007538.1	NP_001007539.1:p.(Arg159His)	NC_000013.10:g.26621063C>T	VUS	1 lab	783202cda1
7:117267575 CFTR G>A	7	117267575	117267575	G	A	CFTR	c.3469-1G>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117267575G>A	(Likely) pathogenic	1 lab	f87befbae0
7:128414637 OPN1SW G>A	7	128414637	128414637	G	A	OPN1SW	c.602C>T	NM_001708.2	NP_001699.1:p.(Thr201Met)	NC_000007.13:g.128414637G>A	VUS	1 lab	78341aea04
17:36491106 GPR179 C>T	17	36491106	36491106	C	T	GPR179	c.1455G>A	NM_001004334.3	NP_001004334.3:p.(Leu485=)	NC_000017.10:g.36491106C>T	(Likely) benign	1 lab	7834267e8a
11:88045639 CTSC C>T	11	88045639	88045639	C	T	CTSC	c.402G>A	NM_001814.6	NP_001805.4:p.(Trp134Ter)	NC_000011.9:g.88045639C>T	(Likely) pathogenic	1 lab	f87c29a965
19:17942548 JAK3 G>A	19	17942548	17942548	G	A	JAK3	c.2740C>T	NM_000215.3	NP_000206.2:p.(Leu914=)	NC_000019.9:g.17942548G>A	(Likely) benign	1 lab	7836e20c29
19:55525596 GP6 T>C	19	55525596	55525596	T	C	GP6	c.1717A>G	NM_001083899.2	NP_001077368.2:p.(Arg573Gly)	NC_000019.9:g.55525596T>C	(Likely) benign	1 lab	f87df0e373
20:3888763 PANK2 G>A	20	3888763	3888763	G	A	PANK2	c.819G>A	NM_153638.2	NP_705902.2:p.(Leu273=)	NC_000020.10:g.3888763G>A	(Likely) benign	1 lab	783b3ff4f9
1:197070761 ASPM T>C	1	197070761	197070761	T	C	ASPM	c.7620A>G	NM_018136.4	NP_060606.3:p.(Ala2540=)	NC_000001.10:g.197070761T>C	(Likely) benign	1 lab	783c3adbd3
X:110496273 CAPN6 C>G	X	110496273	110496273	C	G	CAPN6	c.469G>C	NM_014289.3	NP_055104.2:p.(Glu157Gln)	NC_000023.10:g.110496273C>G	VUS	1 lab	783c8a0655
17:12666459 MYOCD G>A	17	12666459	12666459	G	A	MYOCD	c.2459G>A	NM_001146312.2	NP_001139784.1:p.(Arg820Gln)	NC_000017.10:g.12666459G>A	VUS	1 lab	783d3c3ce4
17:29559173 NF1 G>T	17	29559173	29559173	G	T	NF1	c.3280G>T	NM_000267.3	NP_000258.1:p.(Glu1094Ter)	NC_000017.10:g.29559173G>T	(Likely) pathogenic	1 lab	783d67a052
1:27106851 ARID1A C>A	1	27106851	27106851	C	A	ARID1A	c.6462C>A	NM_006015.6	NP_006006.3:p.(Phe2154Leu)	NC_000001.10:g.27106851C>A	VUS	1 lab	f88271f035
4:101947202 PPP3CA T>C	4	101947202	101947202	T	C	PPP3CA	c.1386A>G	NM_000944.5	NP_000935.1:p.(Ser462=)	NC_000004.11:g.101947202T>C	(Likely) benign	1 lab	7840462825
18:44063557 LOXHD1 C>T	18	44063557	44063557	C	T	LOXHD1	c.6148G>A	NM_144612.6	NP_653213.6:p.(Gly2050Ser)	NC_000018.9:g.44063557C>T	(Likely) benign	1 lab	784237bff2
4:111482613 ENPEP A>G	4	111482613	111482613	A	G	ENPEP	c.2773A>G	NM_001977.4	NP_001968.3:p.(Arg925Gly)	NC_000004.11:g.111482613A>G	VUS	1 lab	7842a349fd
12:96379884 HAL C>T	12	96379884	96379884	C	T	HAL	c.1106G>A	NM_002108.3	NP_002099.1:p.(Arg369Gln)	NC_000012.11:g.96379884C>T	VUS	1 lab	7843074d2c
X:44820553 KDM6A A>G	X	44820553	44820553	A	G	KDM6A	c.250A>G	NM_021140.4	NP_066963.2:p.(Ile84Val)	NC_000023.10:g.44820553A>G	VUS	1 lab	f882fa37f7
9:88234151 AGTPBP1 C>T	9	88234151	88234151	C	T	AGTPBP1	c.2321G>A	NM_001286715.1	NP_001273644.1:p.(Arg774His)	NC_000009.11:g.88234151C>T	VUS	1 lab	78438cffe2
2:241662017 KIF1A C>A	2	241662017	241662017	C	A	KIF1A	c.4521G>T	NM_001244008.1	NP_001230937.1:p.(Arg1507=)	NC_000002.11:g.241662017C>A	(Likely) benign	1 lab	78448a7b73
16:29870635 CDIPT G>A	16	29870635	29870635	G	A	CDIPT	c.517C>T	NM_006319.5	NP_006310.1:p.(Arg173Trp)	NC_000016.9:g.29870635G>A	VUS	1 lab	7846a594f2
13:111102096 COL4A2 G>A	13	111102096	111102096	G	A	COL4A2	c.1149G>A	NM_001846.3	NP_001837.2:p.(Pro383=)	NC_000013.10:g.111102096G>A	(Likely) benign	1 lab	7847d326af
4:74088735 ANKRD17 T>C	4	74088735	74088735	T	C	ANKRD17	c.10A>G	NM_001286771.3	NP_001273700.1:p.(Thr4Ala)	NC_000004.11:g.74088735T>C	(Likely) benign	1 lab	f88557b4b5
11:78177004 NARS2 T>C	11	78177004	78177004	T	C	NARS2	c.1082A>G	NM_024678.6	NP_078954.4:p.(Asn361Ser)	NC_000011.9:g.78177004T>C	(Likely) benign	1 lab	784a2defa1
7:819719 DNAAF5 T>C	7	819719	819719	T	C	DNAAF5	c.2369T>C	NM_017802.4	NP_060272.3:p.(Leu790Pro)	NC_000007.13:g.819719T>C	VUS	1 lab	f888e4e890
9:133945155 LAMC3 G>A	9	133945155	133945155	G	A	LAMC3	c.2987G>A	NM_006059.3	NP_006050.3:p.(Arg996His)	NC_000009.11:g.133945155G>A	(Likely) benign	1 lab	784b6390e3
9:74300311 CEMIP2 TA>T	9	74300311	74300329	TA	T	CEMIP2	c.3956-3del	NM_013390.3	NP_037522.1:p.?	NC_000009.11:g.74300329del	(Likely) benign	1 lab	784f4ac50f
X:131212577 FRMD7 T>G	X	131212577	131212577	T	G	FRMD7	c.1468A>C	NM_194277.2	NP_919253.1:p.(Ile490Leu)	NC_000023.10:g.131212577T>G	(Likely) benign	1 lab	785091a4f3
1:236180442 NID1 A>G	1	236180442	236180442	A	G	NID1	c.2254+6T>C	NM_002508.2	NP_002499.2:p.?	NC_000001.10:g.236180442A>G	VUS	1 lab	785f35ea00
1:153233697 LORICRIN C>G	1	153233697	153233697	C	G	LORICRIN	c.272C>G	NM_000427.3	NP_000418.2:p.(Ser91Cys)	NC_000001.10:g.153233697C>G	(Likely) benign	1 lab	f88b25e5dd
5:112175304 APC AG>A	5	112175304	112175307	AG	A	APC	c.4016del	NM_000038.6	NP_000029.2:p.(Gly1339ValfsTer76)	NC_000005.9:g.112175307del	(Likely) pathogenic	1 lab	7851747948
X:108912383 ACSL4 T>C	X	108912383	108912383	T	C	ACSL4	c.1145A>G	NM_022977.2	NP_075266.1:p.(Tyr382Cys)	NC_000023.10:g.108912383T>C	(Likely) benign	1 lab	78518dcfba
12:111956226 ATXN2 T>C	12	111956226	111956226	T	C	ATXN2	c.1472A>G	NM_002973.3	NP_002964.3:p.(Asn491Ser)	NC_000012.11:g.111956226T>C	VUS	1 lab	78531efc8e
15:77907922 LINGO1 G>A	15	77907922	77907922	G	A	LINGO1	c.309C>T	NM_001301191.1	NP_001288120.1:p.(Ala103=)	NC_000015.9:g.77907922G>A	(Likely) benign	1 lab	785535aeb5
2:132236937 TUBA3D G>A	2	132236937	132236937	G	A	TUBA3D	c.283G>A	NM_080386.3	NP_525125.2:p.(Gly95Arg)	NC_000002.11:g.132236937G>A	VUS	1 lab	7857c532df
3:47125504 SETD2 TTCTTCC>T	3	47125504	47125519	TTCTTCC	T	SETD2	c.5760_5765del	NM_014159.7	NP_054878.5:p.(Glu1921_Glu1922del)	NC_000003.11:g.47125514_47125519del	VUS	1 lab	f88b56eed7
17:4644008 ZMYND15 C>G	17	4644008	4644008	C	G	ZMYND15	c.165C>G	NM_001136046.3	NP_001129518.1:p.(Ala55=)	NC_000017.10:g.4644008C>G	(Likely) benign	1 lab	7859871191
X:91133879 PCDH11X C>A	X	91133879	91133879	C	A	PCDH11X	c.2640C>A	NM_032968.4	NP_116750.1:p.(Asn880Lys)	NC_000023.10:g.91133879C>A	VUS	1 lab	785a8ff9a3
16:68847301 CDH1 C>G	16	68847301	68847301	C	G	CDH1	c.1223C>G	NM_004360.5	NP_004351.1:p.(Ala408Gly)	NC_000016.9:g.68847301C>G	VUS	1 lab	f88e14d582
20:62325731 RTEL1 C>T	20	62325731	62325731	C	T	RTEL1	c.2999C>T	NM_001283009.1	NP_001269938.1:p.(Thr1000Met)	NC_000020.10:g.62325731C>T	(Likely) benign	1 lab	785e165096
7:107557256 DLD G>A	7	107557256	107557256	G	A	DLD	c.893G>A	NM_000108.4	NP_000099.2:p.(Gly298Asp)	NC_000007.13:g.107557256G>A	(Likely) benign	1 lab	785e6ab888
2:1657479 PXDN C>T	2	1657479	1657479	C	T	PXDN	c.2025G>A	NM_012293.2	NP_036425.1:p.(Ala675=)	NC_000002.11:g.1657479C>T	(Likely) benign	1 lab	785ecdb8a8
5:89933758 ADGRV1 C>G	5	89933758	89933758	C	G	ADGRV1	c.2233C>G	NM_032119.4	NP_115495.3:p.(Leu745Val)	NC_000005.9:g.89933758C>G	VUS	1 lab	785f08b199
15:31355369 TRPM1 C>T	15	31355369	31355369	C	T	TRPM1	c.968G>A	NM_001252020.1	NP_001238949.1:p.(Arg323His)	NC_000015.9:g.31355369C>T	VUS	1 lab	7860dcf678
5:14508394 TRIO G>A	5	14508394	14508394	G	A	TRIO	c.9157G>A	NM_007118.4	NP_009049.2:p.(Gly3053Ser)	NC_000005.9:g.14508394G>A	(Likely) benign	1 lab	f88fc28628
6:143095564 HIVEP2 T>C	6	143095564	143095564	T	C	HIVEP2	c.312A>G	NM_006734.3	NP_006725.3:p.(Ser104=)	NC_000006.11:g.143095564T>C	(Likely) benign	1 lab	7862d62cf4
19:13409621 CACNA1A G>A	19	13409621	13409621	G	A	CACNA1A	c.2838C>T	NM_023035.2	NP_075461.2:p.(Ser946=)	NC_000019.9:g.13409621G>A	(Likely) benign	1 lab	78645c02f5
X:154157897 F8 A>G	X	154157897	154157897	A	G	F8	c.4168T>C	NM_000132.3	NP_000123.1:p.(Ser1390Pro)	NC_000023.10:g.154157897A>G	(Likely) benign	1 lab	7867d83b0f
16:2156189 PKD1 C>T	16	2156189	2156189	C	T	PKD1	c.7606G>A	NM_001009944.2	NP_001009944.2:p.(Gly2536Arg)	NC_000016.9:g.2156189C>T	(Likely) benign	1 lab	7867df3af2
X:3229362 MXRA5 G>A	X	3229362	3229362	G	A	MXRA5	c.6882C>T	NM_015419.3	NP_056234.2:p.(Ser2294=)	NC_000023.10:g.3229362G>A	(Likely) benign	1 lab	7867ef764d
20:33586325 MYH7B C>T	20	33586325	33586325	C	T	MYH7B	c.4012C>T	NM_020884.4	NP_065935.3:p.(Arg1338Cys)	NC_000020.10:g.33586325C>T	VUS	1 lab	7867f8ab35
7:77166952 PTPN12 G>A	7	77166952	77166952	G	A	PTPN12	c.89G>A	NM_002835.3	NP_002826.3:p.(Arg30Gln)	NC_000007.13:g.77166952G>A	VUS	1 lab	7868c057e5
1:183204831 LAMC2 C>G	1	183204831	183204831	C	G	LAMC2	c.2422C>G	NM_005562.2	NP_005553.2:p.(Pro808Ala)	NC_000001.10:g.183204831C>G	(Likely) benign	1 lab	786a019450
21:46888653 COL18A1 G>A	21	46888653	46888653	G	A	COL18A1	c.1849G>A	NM_130444.3	NP_569711.2:p.(Gly617Arg)	NC_000021.8:g.46888653G>A	VUS	1 lab	786a97cbee
19:43375986 PSG1 G>T	19	43375986	43375986	G	T	PSG1	c.642C>A	NM_006905.2	NP_008836.2:p.(Pro214=)	NC_000019.9:g.43375986G>T	(Likely) benign	1 lab	786b493422
17:7811262 CHD3 C>T	17	7811262	7811262	C	T	CHD3	c.5254C>T	NM_001005271.2	NP_001005271.2:p.(Arg1752Trp)	NC_000017.10:g.7811262C>T	VUS	1 lab	786ba3a86a
2:62054352 FAM161A G>A	2	62054352	62054352	G	A	FAM161A	c.1893C>T	NM_001201543.1	NP_001188472.1:p.(Thr631=)	NC_000002.11:g.62054352G>A	(Likely) benign	1 lab	786c0663e7
X:107823938 COL4A5 G>A	X	107823938	107823938	G	A	COL4A5	c.861G>A	NM_033380.2	NP_203699.1:p.(Glu287=)	NC_000023.10:g.107823938G>A	(Likely) benign	1 lab	786cef2072
3:47289524 KIF9 G>A	3	47289524	47289524	G	A	KIF9	c.1112C>T	NM_001134878.1	NP_001128350.1:p.(Ala371Val)	NC_000003.11:g.47289524G>A	VUS	1 lab	786d13c80e
X:96502809 DIAPH2 C>A	X	96502809	96502809	C	A	DIAPH2	c.2815C>A	NM_006729.4	NP_006720.1:p.(Gln939Lys)	NC_000023.10:g.96502809C>A	(Likely) benign	1 lab	786f90c818
19:50804978 MYH14 G>A	19	50804978	50804978	G	A	MYH14	c.5530G>A	NM_001145809.1	NP_001139281.1:p.(Gly1844Arg)	NC_000019.9:g.50804978G>A	VUS	1 lab	7871233327
13:52515244 ATP7B G>A	13	52515244	52515244	G	A	ATP7B	c.3529C>T	NM_000053.3	NP_000044.2:p.(Gln1177Ter)	NC_000013.10:g.52515244G>A	VUS	1 lab	7873e7571f
16:2129399 TSC2 CG>C	16	2129399	2129404	CG	C	TSC2	c.3259del	NM_000548.5	NP_000539.2:p.(Glu1087SerfsTer16)	NC_000016.9:g.2129404del	(Likely) pathogenic	1 lab	787407d1ec
2:179408096 TTN C>A	2	179408096	179408096	C	A	TTN	c.96604G>T	NM_001267550.2	NP_001254479.2:p.(Val32202Leu)	NC_000002.11:g.179408096C>A	VUS	1 lab	f890911595
2:121708855 GLI2 C>T	2	121708855	121708855	C	T	GLI2	c.291C>T	NM_005270.4	NP_005261.2:p.(Asp97=)	NC_000002.11:g.121708855C>T	(Likely) benign	1 lab	78775d4698
9:135203095 SETX T>A	9	135203095	135203095	T	A	SETX	c.3890A>T	NM_015046.5	NP_055861.3:p.(Tyr1297Phe)	NC_000009.11:g.135203095T>A	(Likely) benign	1 lab	7877737a39
2:26739458 OTOF A>G	2	26739458	26739458	A	G	OTOF	c.337T>C	NM_194248.2	NP_919224.1:p.(Cys113Arg)	NC_000002.11:g.26739458A>G	(Likely) benign	1 lab	7878e3f3c9
11:70224257 PPFIA1 CTA>C	11	70224257	70224260	CTA	C	PPFIA1	c.3508_3509del	NM_003626.5	NP_003617.1:p.(Met1170ValfsTer46)	NC_000011.9:g.70224259_70224260del	VUS	1 lab	7878f2dd0e
17:10216040 MYH13 C>T	17	10216040	10216040	C	T	MYH13	c.4216G>A	NM_003802.3	NP_003793.2:p.(Glu1406Lys)	NC_000017.10:g.10216040C>T	VUS	1 lab	7879d1e3f4
3:122288506 DTX3L C>T	3	122288506	122288506	C	T	DTX3L	c.1570C>T	NM_138287.3	NP_612144.1:p.(His524Tyr)	NC_000003.11:g.122288506C>T	(Likely) benign	1 lab	787b933f94
1:235866247 LYST C>T	1	235866247	235866247	C	T	LYST	c.10174G>A	NM_001301365.1	NP_001288294.1:p.(Glu3392Lys)	NC_000001.10:g.235866247C>T	VUS	1 lab	787ce2eeb5
3:130284292 COL6A6 C>A	3	130284292	130284292	C	A	COL6A6	c.1116C>A	NM_001102608.2	NP_001096078.1:p.(Asp372Glu)	NC_000003.11:g.130284292C>A	(Likely) benign	1 lab	787cf67ad1
1:41296927 KCNQ4 C>T	1	41296927	41296927	C	T	KCNQ4	c.1464C>T	NM_004700.3	NP_004691.2:p.(Arg488=)	NC_000001.10:g.41296927C>T	(Likely) benign	1 lab	787d3a7111
16:1412883 GNPTG G>A	16	1412883	1412883	G	A	GNPTG	c.799G>A	NM_032520.4	NP_115909.1:p.(Gly267Ser)	NC_000016.9:g.1412883G>A	VUS	1 lab	9eb1672443
8:145639793 SLC39A4 C>T	8	145639793	145639793	C	T	SLC39A4	c.927G>A	NM_017767.2	NP_060237.2:p.(Thr309=)	NC_000008.10:g.145639793C>T	(Likely) benign	1 lab	787d934c2b
17:62022891 SCN4A G>A	17	62022891	62022891	G	A	SCN4A	c.3549C>T	NM_000334.4	NP_000325.4:p.(Ala1183=)	NC_000017.10:g.62022891G>A	(Likely) benign	1 lab	787d945d66
18:56998673 LMAN1 T>C	18	56998673	56998673	T	C	LMAN1	c.1473A>G	NM_005570.3	NP_005561.1:p.(Leu491=)	NC_000018.9:g.56998673T>C	(Likely) benign	1 lab	787e59373e
1:43907455 SZT2 G>A	1	43907455	43907455	G	A	SZT2	c.7537G>A	NM_015284.3	NP_056099.3:p.(Gly2513Arg)	NC_000001.10:g.43907455G>A	(Likely) benign	1 lab	787e84d118
X:153296072 MECP2 G>C	X	153296072	153296072	G	C	MECP2	c.1207C>G	NM_004992.3	NP_004983.1:p.(Pro403Ala)	NC_000023.10:g.153296072G>C	(Likely) benign	1 lab	787f7e8625
6:33652433 ITPR3 C>T	6	33652433	33652433	C	T	ITPR3	c.5105C>T	NM_002224.3	NP_002215.2:p.(Ser1702Leu)	NC_000006.11:g.33652433C>T	(Likely) benign	1 lab	7880679d7a
6:31895978 C2 C>T	6	31895978	31895978	C	T	C2	c.169+9C>T	NM_001282458.1	NP_001269387.1:p.?	NC_000006.11:g.31895978C>T	(Likely) benign	1 lab	7880b83826
15:42147876 SPTBN5 C>A	15	42147876	42147876	C	A	SPTBN5	c.9089G>T	NM_016642.4	NP_057726.4:p.(Ser3030Ile)	NC_000015.9:g.42147876C>A	VUS	1 lab	7881ef1a1a
1:155450536 ASH1L A>C	1	155450536	155450536	A	C	ASH1L	c.2125T>G	NM_018489.3	NP_060959.2:p.(Leu709Val)	NC_000001.10:g.155450536A>C	VUS	1 lab	f8926d3141
X:50052532 CCNB3 T>C	X	50052532	50052532	T	C	CCNB3	c.1363T>C	NM_033031.2	NP_149020.2:p.(Ser455Pro)	NC_000023.10:g.50052532T>C	VUS	1 lab	7884d29795
5:78135257 ARSB A>C	5	78135257	78135257	A	C	ARSB	c.1143-8T>G	NM_000046.5	NP_000037.2:p.?	NC_000005.9:g.78135257A>C	(Likely) pathogenic	1 lab	f8940c5446
12:122710546 DIABLO T>G	12	122710546	122710546	T	G	DIABLO	c.16A>C	NM_019887.5	NP_063940.1:p.(Ser6Arg)	NC_000012.11:g.122710546T>G	(Likely) benign	1 lab	7887458fc0
11:6643057 DCHS1 C>T	11	6643057	6643057	C	T	DCHS1				NC_000011.9:g.6643057C>T	(Likely) benign	1 lab	7887a9629d
3:52394348 DNAH1 C>T	3	52394348	52394348	C	T	DNAH1	c.4593C>T	NM_015512.4	NP_056327.4:p.(Asp1531=)	NC_000003.11:g.52394348C>T	(Likely) benign	1 lab	7888d6c612
X:19475062 MAP3K15 T>C	X	19475062	19475062	T	C	MAP3K15	c.964A>G	NM_001001671.3	NP_001001671.3:p.(Ile322Val)	NC_000023.10:g.19475062T>C	(Likely) benign	1 lab	7889e4d5d4
9:130440811 STXBP1 G>A	9	130440811	130440811	G	A	STXBP1	c.1461G>A	NM_003165.3	NP_003156.1:p.(Glu487=)	NC_000009.11:g.130440811G>A	VUS	1 lab	788a1b6733
12:56087869 ITGA7 A>G	12	56087869	56087869	A	G	ITGA7	c.2483T>C	NM_001144996.1	NP_001138468.1:p.(Val828Ala)	NC_000012.11:g.56087869A>G	(Likely) pathogenic	1 lab	788b64b597
10:73558961 CDH23 C>A	10	73558961	73558961	C	A	CDH23	c.7148C>A	NM_022124.5	NP_071407.4:p.(Ala2383Glu)	NC_000010.10:g.73558961C>A	VUS	1 lab	788d518a8e
17:66339922 ARSG T>A	17	66339922	66339922	T	A	ARSG	c.396T>A	NM_001352910.1	NP_001339839.1:p.(Thr132=)	NC_000017.10:g.66339922T>A	(Likely) benign	1 lab	788d5eb19f
1:40775809 COL9A2 C>T	1	40775809	40775809	C	T	COL9A2	c.766G>A	NM_001852.4	NP_001843.1:p.(Gly256Ser)	NC_000001.10:g.40775809C>T	VUS	1 lab	788dc4c2a1
X:153695652 PLXNA3 G>A	X	153695652	153695652	G	A	PLXNA3	c.3279G>A	NM_017514.4	NP_059984.3:p.(Ala1093=)	NC_000023.10:g.153695652G>A	(Likely) benign	1 lab	7890f2a491
15:83221322 CPEB1 A>T	15	83221322	83221322	A	T	CPEB1	c.883T>A	NM_001288819.1	NP_001275748.1:p.(Leu295Met)	NC_000015.9:g.83221322A>T	VUS	1 lab	78912e9d6c
17:61972561 CSH1 G>A	17	61972561	61972561	G	A	CSH1	c.475C>T	NM_001317.5	NP_001308.1:p.(Arg159Cys)	NC_000017.10:g.61972561G>A	(Likely) benign	1 lab	7891de4d06
13:103299578 TPP2 C>G	13	103299578	103299578	C	G	TPP2	c.2512C>G	NM_003291.4	NP_003282.2:p.(Pro838Ala)	NC_000013.10:g.103299578C>G	VUS	1 lab	7892706d4c
4:146575292 MMAA A>G	4	146575292	146575292	A	G	MMAA	c.966A>G	NM_172250.3	NP_758454.1:p.(Pro322=)	NC_000004.11:g.146575292A>G	(Likely) benign	1 lab	789366fed7
5:37227100 CPLANE1 C>G	5	37227100	37227100	C	G	CPLANE1	c.1597G>C	NM_023073.3	NP_075561.3:p.(Asp533His)	NC_000005.9:g.37227100C>G	VUS	1 lab	7893f204a9
4:108866679 CYP2U1 T>C	4	108866679	108866679	T	C	CYP2U1	c.1044T>C	NM_183075.2	NP_898898.1:p.(Asp348=)	NC_000004.11:g.108866679T>C	(Likely) benign	1 lab	7895a53a97
14:74138285 DNAL1 GAACTT>G	14	74138285	74138292	GAACTT	G	DNAL1	c.252_256del	NM_031427.4	NP_113615.2:p.(Asn84LysfsTer21)	NC_000014.8:g.74138288_74138292del	VUS	1 lab	7898c0661f
1:197073196 ASPM G>A	1	197073196	197073196	G	A	ASPM	c.5185C>T	NM_018136.4	NP_060606.3:p.(Arg1729Trp)	NC_000001.10:g.197073196G>A	(Likely) benign	1 lab	78998fab0f
12:6687000 CHD4 C>T	12	6687000	6687000	C	T	CHD4	c.5312G>A	NM_001273.4	NP_001264.2:p.(Arg1771His)	NC_000012.11:g.6687000C>T	VUS	1 lab	7899a573c2
8:87641216 CNGB3 T>C	8	87641216	87641216	T	C	CNGB3	c.1411A>G	NM_019098.4	NP_061971.3:p.(Ile471Val)	NC_000008.10:g.87641216T>C	VUS	1 lab	789a45b37c
5:135388645 TGFBI C>T	5	135388645	135388645	C	T	TGFBI	c.963C>T	NM_000358.2	NP_000349.1:p.(Ile321=)	NC_000005.9:g.135388645C>T	(Likely) benign	1 lab	789ecd836d
8:6289091 MCPH1 G>C	8	6289091	6289091	G	C	MCPH1	c.305G>C	NM_024596.4	NP_078872.2:p.(Ser102Thr)	NC_000008.10:g.6289091G>C	(Likely) benign	1 lab	789fc98b28
17:29490300 NF1 C>T	17	29490300	29490300	C	T	NF1	c.385C>T	NM_000267.3	NP_000258.1:p.(Gln129Ter)	NC_000017.10:g.29490300C>T	(Likely) pathogenic	1 lab	78a0a39634
11:17591822 OTOG C>T	11	17591822	17591822	C	T	OTOG	c.1876C>T	NM_001277269.1	NP_001264198.1:p.(Arg626Trp)	NC_000011.9:g.17591822C>T	VUS	1 lab	78a0b88758
5:92921181 NR2F1 T>C	5	92921181	92921181	T	C	NR2F1	c.452T>C	NM_005654.5	NP_005645.1:p.(Met151Thr)	NC_000005.9:g.92921181T>C	VUS	1 lab	78a2cd579c
14:74726437 VSX2 A>C	14	74726437	74726437	A	C	VSX2	c.712A>C	NM_182894.2	NP_878314.1:p.(Lys238Gln)	NC_000014.8:g.74726437A>C	VUS	1 lab	78a4b394df
X:38176701 RPGR TAA>T	X	38176701	38176706	TAA	T	RPGR	c.485_486del	NM_001034853.2	NP_001030025.1:p.(Phe162TyrfsTer4)	NC_000023.10:g.38176705_38176706del	(Likely) pathogenic	1 lab	78a59e1291
12:111052007 TCTN1 C>T	12	111052007	111052007	C	T	TCTN1	c.20C>T	NM_001082538.2	NP_001076007.1:p.(Pro7Leu)	NC_000012.11:g.111052007C>T	(Likely) benign	1 lab	78a6de96dd
19:38800283 YIF1B G>A	19	38800283	38800283	G	A	YIF1B	c.50C>T	NM_001145463.1	NP_001138935.1:p.(Pro17Leu)	NC_000019.9:g.38800283G>A	VUS	1 lab	78a7040e4a
X:50089793 CCNB3 G>A	X	50089793	50089793	G	A	CCNB3	c.3797G>A	NM_033031.2	NP_149020.2:p.(Arg1266His)	NC_000023.10:g.50089793G>A	VUS	1 lab	78a8d13746
19:45997899 RTN2 G>C	19	45997899	45997899	G	C	RTN2	c.444C>G	NM_005619.4	NP_005610.1:p.(Gly148=)	NC_000019.9:g.45997899G>C	(Likely) benign	1 lab	78aa8a7a16
6:87970650 ZNF292 G>A	6	87970650	87970650	G	A	ZNF292	c.7303G>A	NM_015021.2	NP_055836.1:p.(Val2435Ile)	NC_000006.11:g.87970650G>A	(Likely) benign	1 lab	78ac2c9bb0
18:77474547 CTDP1 G>T	18	77474547	77474547	G	T	CTDP1	c.1087G>T	NM_004715.4	NP_004706.3:p.(Glu363Ter)	NC_000018.9:g.77474547G>T	(Likely) pathogenic	1 lab	78ad327ac8
18:32374182 DTNA C>T	18	32374182	32374182	C	T	DTNA	c.330C>T	NM_001390.4	NP_001381.2:p.(Leu110=)	NC_000018.9:g.32374182C>T	(Likely) benign	1 lab	78aee882b7
5:60200665 ERCC8 A>G	5	60200665	60200665	A	G	ERCC8	c.435T>C	NM_000082.3	NP_000073.1:p.(Tyr145=)	NC_000005.9:g.60200665A>G	(Likely) benign	1 lab	78b012e378
13:41379247 SLC25A15 C>A	13	41379247	41379247	C	A	SLC25A15	c.315-7C>A	NM_014252.3	NP_055067.1:p.?	NC_000013.10:g.41379247C>A	(Likely) benign	1 lab	78b0131170
X:153688745 PLXNA3 C>T	X	153688745	153688745	C	T	PLXNA3	c.222C>T	NM_017514.4	NP_059984.3:p.(Asn74=)	NC_000023.10:g.153688745C>T	(Likely) benign	1 lab	78b2d0a0c9
11:4104144 STIM1 C>G	11	4104144	4104144	C	G	STIM1	c.1170C>G	NM_001277961.1	NP_001264890.1:p.(Leu390=)	NC_000011.9:g.4104144C>G	(Likely) benign	1 lab	78b3d65216
3:132247160 DNAJC13 T>G	3	132247160	132247160	T	G	DNAJC13	c.6524T>G	NM_001329126.1	NP_001316055.1:p.(Leu2175Trp)	NC_000003.11:g.132247160T>G	(Likely) benign	1 lab	78b459ee3c
X:105132399 NRK G>A	X	105132399	105132399	G	A	NRK	c.365G>A	NM_198465.3	NP_940867.2:p.(Arg122Gln)	NC_000023.10:g.105132399G>A	(Likely) benign	1 lab	78b4e0d56d
19:59028088 ZBTB45 C>T	19	59028088	59028088	C	T	ZBTB45	c.953G>A	NM_001316978.1	NP_001303907.1:p.(Arg318His)	NC_000019.9:g.59028088C>T	(Likely) benign	1 lab	78b6ba702d
10:100177944 HPS1 C>T	10	100177944	100177944	C	T	HPS1	c.956G>A	NM_001322487.1	NP_001309416.1:p.(Gly319Glu)	NC_000010.10:g.100177944C>T	(Likely) benign	1 lab	78b6c4778e
2:179629294 TTN G>T	2	179629294	179629294	G	T	TTN	c.9948C>A	NM_001267550.1	NP_001254479.1:p.(Asp3316Glu)	NC_000002.11:g.179629294G>T	VUS	1 lab	78b719037a
11:6519530 DNHD1 T>C	11	6519530	6519530	T	C	DNHD1	c.85T>C	NM_144666.2	NP_653267.2:p.(Leu29=)	NC_000011.9:g.6519530T>C	(Likely) benign	1 lab	78b829a67f
6:7579699 DSP G>C	6	7579699	7579699	G	C	DSP	c.3276G>C	NM_004415.2	NP_004406.2:p.(Ser1092=)	NC_000006.11:g.7579699G>C	(Likely) benign	1 lab	78bb61f219
10:17087183 CUBN G>A	10	17087183	17087183	G	A	CUBN	c.3495C>T	NM_001081.3	NP_001072.2:p.(Cys1165=)	NC_000010.10:g.17087183G>A	(Likely) benign	1 lab	78bbb68f69
X:19560156 SH3KBP1 C>T	X	19560156	19560156	C	T	SH3KBP1	c.1779G>A	NM_031892.2	NP_114098.1:p.(Thr593=)	NC_000023.10:g.19560156C>T	(Likely) benign	1 lab	78bc193e10
X:47429011 ARAF C>T	X	47429011	47429011	C	T	ARAF	c.1383C>T	NM_001256196.1	NP_001243125.1:p.(Ser461=)	NC_000023.10:g.47429011C>T	(Likely) benign	1 lab	78bd0252a2
11:3819074 PGAP2 A>C	11	3819074	3819074	A	C	PGAP2	c.1A>C	NM_001256236.1	NP_001243165.1:p.(Met1?)	NC_000011.9:g.3819074A>C	(Likely) pathogenic	1 lab	78bd7c2c0b
12:49431576 KMT2D G>A	12	49431576	49431576	G	A	KMT2D	c.9563C>T	NM_003482.3	NP_003473.3:p.(Thr3188Met)	NC_000012.11:g.49431576G>A	VUS	1 lab	78beff6c1a
19:45856612 ERCC2 G>A	19	45856612	45856612	G	A	ERCC2	c.1666-20C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45856612G>A	(Likely) benign	1 lab	78c0b1f7aa
2:179638921 TTN T>A	2	179638921	179638921	T	A	TTN	c.7057+13A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179638921T>A	(Likely) benign	1 lab	78c12c2687
15:74032775 INSYN1 G>A	15	74032775	74032775	G	A	INSYN1	c.365C>T	NM_001039614.2	NP_001034703.1:p.(Ser122Leu)	NC_000015.9:g.74032775G>A	VUS	1 lab	78c12e9308
15:28408276 HERC2 G>A	15	28408276	28408276	G	A	HERC2	c.10710C>T	NM_004667.5	NP_004658.3:p.(Ser3570=)	NC_000015.9:g.28408276G>A	(Likely) benign	1 lab	78c139a7fb
17:42427732 GRN G>A	17	42427732	42427732	G	A	GRN	c.462+24G>A	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42427732G>A	(Likely) benign	1 lab	78c2ef6154
13:60453518 DIAPH3 G>A	13	60453518	60453518	G	A	DIAPH3	c.2452C>T	NM_001042517.1	NP_001035982.1:p.(Pro818Ser)	NC_000013.10:g.60453518G>A	VUS	1 lab	78c474f690
7:150749657 ASIC3 G>A	7	150749657	150749657	G	A	ASIC3	c.1534G>A	NM_020321.3	NP_064717.1:p.(Glu512Lys)	NC_000007.13:g.150749657G>A	(Likely) benign	1 lab	78c48e0f40
9:407019 DOCK8 C>A	9	407019	407019	C	A	DOCK8	c.3480C>A	NM_203447.3	NP_982272.2:p.(Thr1160=)	NC_000009.11:g.407019C>A	VUS	1 lab	a0dc1eded7
6:152730797 SYNE1 T>A	6	152730797	152730797	T	A	SYNE1	c.6278A>T	NM_182961.3	NP_892006.3:p.(Asn2093Ile)	NC_000006.11:g.152730797T>A	(Likely) benign	1 lab	78c4cdc212
9:79888268 VPS13A G>C	9	79888268	79888268	G	C	VPS13A	c.2500G>C	NM_033305.2	NP_150648.2:p.(Val834Leu)	NC_000009.11:g.79888268G>C	(Likely) benign	1 lab	78c578eef2
10:119013632 SLC18A2 C>T	10	119013632	119013632	C	T	SLC18A2	c.597C>T	NM_003054.6	NP_003045.2:p.(Ser199=)	NC_000010.10:g.119013632C>T	(Likely) benign	1 lab	78c6a3e3e9
X:140984757 MAGEC3 C>T	X	140984757	140984757	C	T	MAGEC3	c.1213C>T	NM_138702.1	NP_619647.1:p.(Gln405Ter)	NC_000023.10:g.140984757C>T	VUS	1 lab	78c8f15875
6:146755454 GRM1 G>T	6	146755454	146755454	G	T	GRM1	c.3107G>T	NM_001278064.1	NP_001264993.1:p.(Gly1036Val)	NC_000006.11:g.146755454G>T	(Likely) benign	1 lab	78c920f434
X:134990348 SAGE1 G>T	X	134990348	134990348	G	T	SAGE1	c.1260G>T	NM_018666.2	NP_061136.2:p.(Leu420Phe)	NC_000023.10:g.134990348G>T	(Likely) benign	1 lab	78cb35bde1
X:69498430 ARR3 C>T	X	69498430	69498430	C	T	ARR3	c.844C>T	NM_004312.2	NP_004303.2:p.(Arg282Trp)	NC_000023.10:g.69498430C>T	VUS	1 lab	78cc98b1fc
1:213061845 FLVCR1 G>C	1	213061845	213061845	G	C	FLVCR1	c.1322G>C	NM_014053.3	NP_054772.1:p.(Gly441Ala)	NC_000001.10:g.213061845G>C	VUS	1 lab	78d1d53d32
8:38111105 DDHD2 T>G	8	38111105	38111105	T	G	DDHD2	c.1923T>G	NM_001164232.1	NP_001157704.1:p.(Val641=)	NC_000008.10:g.38111105T>G	(Likely) benign	1 lab	78d22d29e5
8:37822975 ADRB3 T>C	8	37822975	37822975	T	C	ADRB3	c.1013A>G	NM_000025.2	NP_000016.1:p.(Asn338Ser)	NC_000008.10:g.37822975T>C	VUS	1 lab	78d24f57c5
16:71007853 HYDIN C>T	16	71007853	71007853	C	T	HYDIN	c.5108G>A	NM_001270974.2	NP_001257903.1:p.(Arg1703His)	NC_000016.9:g.71007853C>T	(Likely) benign	1 lab	78d3adcb8b
6:32632781 HLA-DQB1 A>C	6	32632781	32632781	A	C	HLA-DQB1	c.173T>G	NM_001243961.2	NP_001230890.1:p.(Leu58Arg)	NC_000006.11:g.32632781A>C	(Likely) benign	1 lab	f89ccc7407
11:637335 DRD4 G>T	11	637335	637335	G	T	DRD4	c.31G>T	NM_000797.3	NP_000788.2:p.(Gly11Trp)	NC_000011.9:g.637335G>T	VUS	1 lab	78d5eefcca
X:13803746 GPM6B G>A	X	13803746	13803746	G	A	GPM6B	c.363C>T	NM_001001996.2	NP_001001996.1:p.(Ser121=)	NC_000023.10:g.13803746G>A	(Likely) benign	1 lab	78d8c3fd84
6:165846536 PDE10A T>C	6	165846536	165846536	T	C	PDE10A	c.589A>G	NM_006661.3	NP_006652.1:p.(Ile197Val)	NC_000006.11:g.165846536T>C	(Likely) benign	1 lab	78d94d3a5c
16:72821244 ZFHX3 C>A	16	72821244	72821244	C	A	ZFHX3	c.10931G>T	NM_006885.3	NP_008816.3:p.(Ser3644Ile)	NC_000016.9:g.72821244C>A	VUS	1 lab	78d97cd7e1
1:215802249 USH2A G>A	1	215802249	215802249	G	A	USH2A	c.15426C>T	NM_206933.2	NP_996816.2:p.(His5142=)	NC_000001.10:g.215802249G>A	(Likely) benign	1 lab	78daa3e95f
18:52937093 TCF4 C>T	18	52937093	52937093	C	T	TCF4	c.891G>A	NM_001083962.1	NP_001077431.1:p.(Thr297=)	NC_000018.9:g.52937093C>T	(Likely) benign	1 lab	78dad657c0
17:29576031 NF1 AC>A	17	29576031	29576033	AC	A	NF1	c.4006del	NM_001042492.3	NP_001035957.1:p.(Gln1336SerfsTer7)	NC_000017.10:g.29576033del	(Likely) pathogenic	1 lab	78daeaf5f9
5:140480367 PCDHB3 T>A	5	140480367	140480367	T	A	PCDHB3	c.134T>A	NM_018937.4	NP_061760.1:p.(Ile45Lys)	NC_000005.9:g.140480367T>A	VUS	1 lab	78dbcdf0d3
6:87968258 ZNF292 A>G	6	87968258	87968258	A	G	ZNF292	c.4491A>G	NM_001351444.1	NP_001338373.1:p.(Pro1497=)	NC_000006.11:g.87968258A>G	(Likely) benign	1 lab	78dc33c695
10:16945980 CUBN T>G	10	16945980	16945980	T	G	CUBN	c.8047A>C	NM_001081.3	NP_001072.2:p.(Lys2683Gln)	NC_000010.10:g.16945980T>G	(Likely) benign	1 lab	78dd737e23
X:41077775 USP9X A>G	X	41077775	41077775	A	G	USP9X	c.6360A>G	NM_001039591.3	NP_001034680.2:p.(Ile2120Met)	NC_000023.10:g.41077775A>G	(Likely) benign	1 lab	78dda57639
7:2473392 CHST12 C>T	7	2473392	2473392	C	T	CHST12	c.1118C>T	NM_018641.4	NP_061111.1:p.(Ala373Val)	NC_000007.13:g.2473392C>T	VUS	1 lab	78e049c930
2:63719991 WDPCP C>T	2	63719991	63719991	C	T	WDPCP	c.159G>A	NM_015910.6	NP_056994.3:p.(Ala53=)	NC_000002.11:g.63719991C>T	(Likely) benign	1 lab	78e0d7e8a1
19:45895456 PPP1R13L C>T	19	45895456	45895456	C	T	PPP1R13L	c.1497G>A	NM_006663.4	NP_006654.2:p.(Pro499=)	NC_000019.9:g.45895456C>T	(Likely) benign	1 lab	78e0da8f52
5:1216994 SLC6A19 C>G	5	1216994	1216994	C	G	SLC6A19	c.1107C>G	NM_001003841.2	NP_001003841.1:p.(Ala369=)	NC_000005.9:g.1216994C>G	(Likely) benign	1 lab	78e15ff6c5
18:44683830 IER3IP1 C>T	18	44683830	44683830	C	T	IER3IP1	c.170G>A	NM_016097.4	NP_057181.1:p.(Arg57Gln)	NC_000018.9:g.44683830C>T	(Likely) benign	1 lab	78e281a144
6:135752369 AHI1 C>A	6	135752369	135752369	C	A	AHI1	c.2350G>T	NM_001134831.1	NP_001128303.1:p.(Val784Leu)	NC_000006.11:g.135752369C>A	(Likely) benign	1 lab	78e4ae08e3
3:58121764 FLNB C>T	3	58121764	58121764	C	T	FLNB	c.4823C>T	NM_001164317.1	NP_001157789.1:p.(Ala1608Val)	NC_000003.11:g.58121764C>T	VUS	1 lab	78e628c3a3
14:51225139 NIN G>A	14	51225139	51225139	G	A	NIN	c.2609C>T	NM_020921.3	NP_065972.3:p.(Ala870Val)	NC_000014.8:g.51225139G>A	(Likely) benign	1 lab	78e6ea6d65
17:29486070 NF1 C>T	17	29486070	29486070	C	T	NF1	c.247C>T	NM_000267.3	NP_000258.1:p.(Gln83Ter)	NC_000017.10:g.29486070C>T	(Likely) pathogenic	1 lab	78e7607d27
4:88537189 DSPP C>T	4	88537189	88537189	C	T	DSPP	c.3375C>T	NM_014208.3	NP_055023.2:p.(Asp1125=)	NC_000004.11:g.88537189C>T	(Likely) benign	1 lab	78e8bbaed1
5:158743707 IL12B C>T	5	158743707	158743707	C	T	IL12B	c.973G>A	NM_002187.2	NP_002178.2:p.(Val325Met)	NC_000005.9:g.158743707C>T	VUS	1 lab	78e959d89a
19:36594676 WDR62 C>G	19	36594676	36594676	C	G	WDR62	c.3946C>G	NM_001083961.1	NP_001077430.1:p.(Gln1316Glu)	NC_000019.9:g.36594676C>G	(Likely) benign	1 lab	78e982bd7f
9:140128971 SLC34A3 C>G	9	140128971	140128971	C	G	SLC34A3	c.1197C>G	NM_001177317.1	NP_001170788.1:p.(Val399=)	NC_000009.11:g.140128971C>G	(Likely) benign	1 lab	78ea7550af
4:15562141 CC2D2A T>C	4	15562141	15562141	T	C	CC2D2A	c.2923-13T>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15562141T>C	(Likely) benign	1 lab	78eac29fef
X:153459042 OPN1MW C>T	X	153459042	153459042	C	T	OPN1MW	c.888C>T	NM_000513.2	NP_000504.1:p.(Gly296=)	NC_000023.10:g.153459042C>T	(Likely) benign	1 lab	78ebf0d05d
4:39254822 WDR19 G>A	4	39254822	39254822	G	A	WDR19	c.2786G>A	NM_025132.3	NP_079408.3:p.(Arg929His)	NC_000004.11:g.39254822G>A	VUS	1 lab	78ebfdcc91
22:42024128 XRCC6 A>G	22	42024128	42024128	A	G	XRCC6	c.89A>G	NM_001469.4	NP_001460.1:p.(Tyr30Cys)	NC_000022.10:g.42024128A>G	VUS	1 lab	78ec14b8e8
16:2374459 ABCA3 G>A	16	2374459	2374459	G	A	ABCA3	c.393C>T	NM_001089.2	NP_001080.2:p.(Ala131=)	NC_000016.9:g.2374459G>A	(Likely) benign	1 lab	78ec1e4557
7:40229147 SUGCT T>G	7	40229147	40229147	T	G	SUGCT	c.338T>G	NM_001193311.1	NP_001180240.1:p.(Ile113Ser)	NC_000007.13:g.40229147T>G	VUS	1 lab	78ef069953
1:240371475 FMN2 T>A	1	240371475	240371475	T	A	FMN2	c.3363T>A	NM_020066.5	NP_064450.3:p.(Pro1121=)	NC_000001.10:g.240371475T>A	(Likely) benign	1 lab	78f1d04c18
8:100523333 VPS13B C>A	8	100523333	100523333	C	A	VPS13B	c.4301C>A	NM_017890.4	NP_060360.3:p.(Thr1434Lys)	NC_000008.10:g.100523333C>A	VUS	1 lab	78f2bc030b
6:152674449 SYNE1 C>G	6	152674449	152674449	C	G	SYNE1	c.11202G>C	NM_182961.3	NP_892006.3:p.(Lys3734Asn)	NC_000006.11:g.152674449C>G	(Likely) benign	1 lab	78f39e95b0
21:46914756 COL18A1 T>C	21	46914756	46914756	T	C	COL18A1	c.2380-20T>C	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46914756T>C	(Likely) benign	1 lab	78f3e210d5
1:120497768 NOTCH2 C>T	1	120497768	120497768	C	T	NOTCH2	c.2114G>A	NM_024408.4	NP_077719.2:p.(Arg705His)	NC_000001.10:g.120497768C>T	VUS	1 lab	f8a2ff2ff5
19:15636308 CYP4F22 G>A	19	15636308	15636308	G	A	CYP4F22	c.161G>A	NM_173483.3	NP_775754.2:p.(Arg54His)	NC_000019.9:g.15636308G>A	(Likely) benign	1 lab	78faf72215
4:79205636 FRAS1 C>T	4	79205636	79205636	C	T	FRAS1	c.1333C>T	NM_025074.7	NP_079350.5:p.(Leu445=)	NC_000004.11:g.79205636C>T	(Likely) benign	1 lab	78fb9ee4a5
15:91811773 SV2B C>T	15	91811773	91811773	C	T	SV2B	c.1311C>T	NM_014848.6	NP_055663.1:p.(Gly437=)	NC_000015.9:g.91811773C>T	(Likely) benign	1 lab	78fbde8f78
X:132352187 TFDP3 A>G	X	132352187	132352187	A	G	TFDP3	c.101T>C	NM_016521.2	NP_057605.3:p.(Val34Ala)	NC_000023.10:g.132352187A>G	(Likely) benign	1 lab	78fd4b3a49
13:100741481 PCCA T>G	13	100741481	100741481	T	G	PCCA	c.105+2T>G	NM_000282.3	NP_000273.2:p.?	NC_000013.10:g.100741481T>G	(Likely) pathogenic	1 lab	78fd8a16a2
8:53028969 ST18 T>A	8	53028969	53028969	T	A	ST18	c.2869A>T	NM_001352828.1	NP_001339757.1:p.(Met957Leu)	NC_000008.10:g.53028969T>A	VUS	1 lab	790084a175
10:123325018 FGFR2 G>A	10	123325018	123325018	G	A	FGFR2	c.310C>T	NM_000141.4	NP_000132.3:p.(Leu104Phe)	NC_000010.10:g.123325018G>A	(Likely) benign	1 lab	79017ad35c
7:21805149 DNAH11 C>A	7	21805149	21805149	C	A	DNAH11				NC_000007.13:g.21805149C>A	VUS	1 lab	7902dbac17
12:57501984 STAT6 C>T	12	57501984	57501984	C	T	STAT6	c.78G>A	NM_001178078.1	NP_001171549.1:p.(Leu26=)	NC_000012.11:g.57501984C>T	(Likely) benign	1 lab	7905e4e88a
11:59282505 OR4D9 G>A	11	59282505	59282505	G	A	OR4D9	c.120G>A	NM_001004711.1	NP_001004711.1:p.(Met40Ile)	NC_000011.9:g.59282505G>A	(Likely) benign	1 lab	7907117635
16:2867875 PRSS21 G>A	16	2867875	2867875	G	A	PRSS21	c.165G>A	NM_006799.4	NP_006790.1:p.(Trp55Ter)	NC_000016.9:g.2867875G>A	VUS	1 lab	79083d3760
16:28500670 CLN3 T>A	16	28500670	28500670	T	A	CLN3	c.1A>T	NM_001286110.1	NP_001273039.1:p.(Met1?)	NC_000016.9:g.28500670T>A	(Likely) pathogenic	1 lab	790a165e1f
X:74289272 ABCB7 A>G	X	74289272	74289272	A	G	ABCB7	c.1386T>C	NM_004299.6	NP_004290.2:p.(Ser462=)	NC_000023.10:g.74289272A>G	(Likely) benign	1 lab	790aefafd7
16:2137943 TSC2 G>A	16	2137943	2137943	G	A	TSC2	c.5068+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137943G>A	(Likely) pathogenic	1 lab	aa2f8a01f7
17:29677329 NF1 TC>T	17	29677329	29677331	TC	T	NF1	c.7452del	NM_001042492.3	NP_001035957.1:p.(Tyr2485IlefsTer4)	NC_000017.10:g.29677331del	(Likely) pathogenic	1 lab	790b687f93
11:133789981 MISSING G>A	11	133789981	133789981	G	A	MISSING				NC_000011.9:g.133789981G>A	(Likely) benign	1 lab	790d76dd59
2:234676872 UGT1A1 C>T	2	234676872	234676872	C	T	UGT1A1	c.1091C>T	NM_000463.2	NP_000454.1:p.(Pro364Leu)	NC_000002.11:g.234676872C>T	(Likely) pathogenic	1 lab	790e909292
16:75513240 CHST6 C>T	16	75513240	75513240	C	T	CHST6	c.487G>A	NM_021615.5	NP_067628.1:p.(Glu163Lys)	NC_000016.9:g.75513240C>T	VUS	1 lab	7910152f2a
18:67866635 RTTN C>T	18	67866635	67866635	C	T	RTTN	c.578+15G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67866635C>T	(Likely) benign	1 lab	791070ac84
10:73553390 CDH23 C>T	10	73553390	73553390	C	T	CDH23	c.6705C>T	NM_022124.5	NP_071407.4:p.(Ile2235=)	NC_000010.10:g.73553390C>T	(Likely) benign	1 lab	791252faab
20:47648648 ARFGEF2 G>A	20	47648648	47648648	G	A	ARFGEF2	c.5126G>A	NM_006420.2	NP_006411.2:p.(Trp1709Ter)	NC_000020.10:g.47648648G>A	(Likely) pathogenic	1 lab	79128d760e
16:75513231 CHST6 G>C	16	75513231	75513231	G	C	CHST6	c.496C>G	NM_021615.5	NP_067628.1:p.(Arg166Gly)	NC_000016.9:g.75513231G>C	(Likely) benign	1 lab	7913a539e1
X:153219692 HCFC1 G>A	X	153219692	153219692	G	A	HCFC1	c.4158C>T	NM_005334.2	NP_005325.2:p.(Thr1386=)	NC_000023.10:g.153219692G>A	(Likely) benign	1 lab	791471d875
19:54299271 NLRP12 A>C	19	54299271	54299271	A	C	NLRP12	c.2943T>G	NM_001277126.2	NP_001264055.1:p.(Cys981Trp)	NC_000019.9:g.54299271A>C	VUS	1 lab	f8a48ecd53
16:88503819 ZNF469 A>G	16	88503819	88503819	A	G	ZNF469				NC_000016.9:g.88503819A>G	VUS	1 lab	791575bfd8
10:73572294 CDH23 G>A	10	73572294	73572294	G	A	CDH23	c.9438G>A	NM_022124.5	NP_071407.4:p.(Ala3146=)	NC_000010.10:g.73572294G>A	(Likely) benign	1 lab	7916735d74
16:70208263 CLEC18C G>T	16	70208263	70208263	G	T	CLEC18C	c.82G>T	NM_173619.3	NP_775890.2:p.(Val28Leu)	NC_000016.9:g.70208263G>T	(Likely) benign	1 lab	791701e0af
9:102888795 INVS T>G	9	102888795	102888795	T	G	INVS	c.237T>G	NM_014425.4	NP_055240.2:p.(His79Gln)	NC_000009.11:g.102888795T>G	(Likely) benign	1 lab	7917711adb
12:101682786 UTP20 T>C	12	101682786	101682786	T	C	UTP20	c.564T>C	NM_014503.3	NP_055318.2:p.(Phe188=)	NC_000012.11:g.101682786T>C	(Likely) benign	1 lab	79179624aa
13:103385744 LRTM3 G>A	13	103385744	103385744	G	A	LRTM3	c.17303C>T	NM_001146197.2	NP_001139669.1:p.(Ser5768Leu)	NC_000013.10:g.103385744G>A	VUS	1 lab	791bbfe556
22:41548008 EP300 A>G	22	41548008	41548008	A	G	EP300	c.2989A>G	NM_001429.4	NP_001420.2:p.(Ile997Val)	NC_000022.10:g.41548008A>G	(Likely) benign	1 lab	f8a5e91fad
9:35714046 TLN1 A>T	9	35714046	35714046	A	T	TLN1	c.3153T>A	NM_006289.4	NP_006280.3:p.(Asp1051Glu)	NC_000009.11:g.35714046A>T	(Likely) benign	1 lab	791d31b007
X:129147491 BCORL1 C>G	X	129147491	129147491	C	G	BCORL1	c.743C>G	NM_001184772.2	NP_001171701.1:p.(Pro248Arg)	NC_000023.10:g.129147491C>G	VUS	1 lab	791d911942
2:109382974 RANBP2 C>T	2	109382974	109382974	C	T	RANBP2	c.5979C>T	NM_006267.4	NP_006258.3:p.(Ser1993=)	NC_000002.11:g.109382974C>T	(Likely) benign	1 lab	791dba8b9f
15:90627555 IDH2 G>C	15	90627555	90627555	G	C	IDH2	c.1302C>G	NM_002168.3	NP_002159.2:p.(Thr434=)	NC_000015.9:g.90627555G>C	(Likely) benign	1 lab	791e11bff3
15:52702590 MYO5A A>G	15	52702590	52702590	A	G	MYO5A	c.696T>C	NM_000259.3	NP_000250.3:p.(Tyr232=)	NC_000015.9:g.52702590A>G	(Likely) benign	1 lab	792197b16b
X:53655498 HUWE1 G>A	X	53655498	53655498	G	A	HUWE1	c.1188C>T	NM_031407.6	NP_113584.3:p.(Tyr396=)	NC_000023.10:g.53655498G>A	(Likely) benign	1 lab	7921d6518c
X:71358473 NHSL2 C>T	X	71358473	71358473	C	T	NHSL2	c.1075C>T	NM_001013627.2	NP_001013649.2:p.(Arg359Trp)	NC_000023.10:g.71358473C>T	(Likely) benign	1 lab	79235119b8
13:41382711 SLC25A15 A>T	13	41382711	41382711	A	T	SLC25A15	c.760A>T	NM_014252.4	NP_055067.1:p.(Ile254Leu)	NC_000013.10:g.41382711A>T	(Likely) benign	1 lab	f8a6d89bd1
22:21159437 PI4KA A>G	22	21159437	21159437	A	G	PI4KA	c.1185T>C	NM_058004.3	NP_477352.3:p.(Phe395=)	NC_000022.10:g.21159437A>G	(Likely) benign	1 lab	7923e11f82
20:60922038 LAMA5 G>A	20	60922038	60922038	G	A	LAMA5	c.1003C>T	NM_005560.4	NP_005551.3:p.(Arg335Cys)	NC_000020.10:g.60922038G>A	VUS	1 lab	792491647e
10:69881361 MYPN G>A	10	69881361	69881361	G	A	MYPN	c.166G>A	NM_032578.3	NP_115967.2:p.(Gly56Ser)	NC_000010.10:g.69881361G>A	(Likely) benign	1 lab	7924f340a9
17:29576134 NF1 C>G	17	29576134	29576134	C	G	NF1	c.4107C>G	NM_000267.3	NP_000258.1:p.(Tyr1369Ter)	NC_000017.10:g.29576134C>G	(Likely) pathogenic	1 lab	7924fb41d2
1:27429055 SLC9A1 G>GGGA	1	27429055	27429066	G	GGGA	SLC9A1	c.1647-9_1647-7dup	NM_003047.4	NP_003038.2:p.?	NC_000001.10:g.27429064_27429066dup	(Likely) benign	1 lab	792553ac9a
10:73544118 CDH23 G>A	10	73544118	73544118	G	A	CDH23	c.5443G>A	NM_022124.5	NP_071407.4:p.(Ala1815Thr)	NC_000010.10:g.73544118G>A	VUS	1 lab	79257d46ce
2:189933587 COL5A2 C>T	2	189933587	189933587	C	T	COL5A2	c.1182G>A	NM_000393.4	NP_000384.2:p.(Ala394=)	NC_000002.11:g.189933587C>T	(Likely) benign	1 lab	7925f2343f
5:149754536 TCOF1 C>T	5	149754536	149754536	C	T	TCOF1	c.1298C>T	NM_001135243.2	NP_001128715.1:p.(Ala433Val)	NC_000005.9:g.149754536C>T	(Likely) benign	1 lab	f8a7a2cf26
2:44128499 LRPPRC T>G	2	44128499	44128499	T	G	LRPPRC	c.3529A>C	NM_133259.3	NP_573566.2:p.(Met1177Leu)	NC_000002.11:g.44128499T>G	VUS	1 lab	7928b2e291
9:140917580 CACNA1B G>C	9	140917580	140917580	G	C	CACNA1B	c.2385G>C	NM_000718.4	NP_000709.1:p.(Glu795Asp)	NC_000009.11:g.140917580G>C	VUS	1 lab	f8ac2d1e8b
X:106116819 TBC1D8B C>T	X	106116819	106116819	C	T	TBC1D8B	c.2987C>T	NM_017752.2	NP_060222.2:p.(Ser996Leu)	NC_000023.10:g.106116819C>T	VUS	1 lab	792ba08b5e
15:79228015 CTSH T>C	15	79228015	79228015	T	C	CTSH	c.-638+7A>G	NM_001319137.1	NP_001306066.1:p.?	NC_000015.9:g.79228015T>C	(Likely) benign	1 lab	792ca1acab
2:29449927 ALK G>A	2	29449927	29449927	G	A	ALK				NC_000002.11:g.29449927G>A	(Likely) benign	1 lab	792e07fb2a
14:23587835 CEBPE G>C	14	23587835	23587835	G	C	CEBPE				NC_000014.8:g.23587835G>C	(Likely) benign	1 lab	aadd8c35b3
2:179411562 TTN C>T	2	179411562	179411562	C	T	TTN	c.94593G>A	NM_001267550.1	NP_001254479.1:p.(Ala31531=)	NC_000002.11:g.179411562C>T	(Likely) benign	1 lab	792e5c3fee
4:15589434 CC2D2A G>T	4	15589434	15589434	G	T	CC2D2A	c.4066-5G>T	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15589434G>T	(Likely) benign	1 lab	792ef540ca
5:146258290 PPP2R2B A>AGCTGCTGCTGCTGCTGCT	5	146258290	146258322	A	AGCTGCTGCTGCTGCTGCT	PPP2R2B	c.40_57dup	NM_181675.3	NP_858061.2:p.(Ser14_Ser19dup)	NC_000005.9:g.146258305_146258322dup	(Likely) benign	1 lab	7930b5fa99
X:23019368 DDX53 C>T	X	23019368	23019368	C	T	DDX53	c.1194C>T	NM_182699.3	NP_874358.2:p.(Arg398=)	NC_000023.10:g.23019368C>T	(Likely) benign	1 lab	79319d1a6d
8:38282005 FGFR1 C>T	8	38282005	38282005	C	T	FGFR1	c.936+22G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38282005C>T	(Likely) benign	1 lab	7931b4d955
1:16475522 EPHA2 G>T	1	16475522	16475522	G	T	EPHA2	c.174C>A	NM_004431.4	NP_004422.2:p.(Ile58=)	NC_000001.10:g.16475522G>T	(Likely) benign	1 lab	7932f71a6a
17:79687455 SLC25A10 C>T	17	79687455	79687455	C	T	SLC25A10	c.1129C>T	NM_001270953.1	NP_001257882.1:p.(Arg377Ter)	NC_000017.10:g.79687455C>T	VUS	1 lab	7933809597
20:62292856 RTEL1 C>T	20	62292856	62292856	C	T	RTEL1	c.301+7C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62292856C>T	(Likely) benign	1 lab	7934289302
15:85383641 ALPK3 G>T	15	85383641	85383641	G	T	ALPK3	c.1737G>T	NM_020778.4	NP_065829.3:p.(Gly579=)	NC_000015.9:g.85383641G>T	(Likely) benign	1 lab	79344f4236
2:208992982 CRYGC C>T	2	208992982	208992982	C	T	CRYGC	c.470G>A	NM_020989.3	NP_066269.1:p.(Trp157Ter)	NC_000002.11:g.208992982C>T	(Likely) pathogenic	1 lab	793474aa13
11:14380346 RRAS2 C>T	11	14380346	14380346	C	T	RRAS2	c.71G>A	NM_012250.6	NP_036382.2:p.(Gly24Asp)	NC_000011.9:g.14380346C>T	VUS	1 lab	f8b0ca005c
X:69639576 KIF4A C>T	X	69639576	69639576	C	T	KIF4A	c.3438C>T	NM_012310.4	NP_036442.3:p.(Thr1146=)	NC_000023.10:g.69639576C>T	(Likely) benign	1 lab	793695ee76
17:29657471 NF1 A>C	17	29657471	29657471	A	C	NF1	c.5704A>C	NM_000267.3	NP_000258.1:p.(Thr1902Pro)	NC_000017.10:g.29657471A>C	VUS	1 lab	7937d658ed
X:153063860 SSR4 T>A	X	153063860	153063860	T	A	SSR4	c.518T>A	NM_001204527.1	NP_001191456.1:p.(Phe173Tyr)	NC_000023.10:g.153063860T>A	(Likely) benign	1 lab	79380edc99
22:50217894 BRD1 G>C	22	50217894	50217894	G	C	BRD1	c.72C>G	NM_001304808.2	NP_001291737.1:p.(His24Gln)	NC_000022.10:g.50217894G>C	VUS	1 lab	793830a87d
7:142458511 PRSS1 G>T	7	142458511	142458511	G	T	PRSS1	c.146G>T	NM_002769.4	NP_002760.1:p.(Gly49Val)	NC_000007.13:g.142458511G>T	VUS	1 lab	793947c1ac
7:93065483 CALCR CTGCAAATATACGG>C	7	93065483	93065498	CTGCAAATATACGG	C	CALCR	c.931-14_931-2del	NM_001742.4	NP_001733.1:p.?	NC_000007.13:g.93065486_93065498del	(Likely) benign	1 lab	7939be2277
5:90083884 ADGRV1 G>A	5	90083884	90083884	G	A	ADGRV1	c.13654-4G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90083884G>A	(Likely) benign	1 lab	7939c29090
8:126095385 WASHC5 C>A	8	126095385	126095385	C	A	WASHC5	c.302G>T	NM_014846.3	NP_055661.3:p.(Ser101Ile)	NC_000008.10:g.126095385C>A	VUS	1 lab	793cac7670
18:77477937 CTDP1 A>G	18	77477937	77477937	A	G	CTDP1	c.2338A>G	NM_004715.4	NP_004706.3:p.(Lys780Glu)	NC_000018.9:g.77477937A>G	VUS	1 lab	793cbee18b
11:68700879 IGHMBP2 C>T	11	68700879	68700879	C	T	IGHMBP2	c.1348C>T	NM_002180.2	NP_002171.2:p.(Arg450Cys)	NC_000011.9:g.68700879C>T	VUS	1 lab	793deb7b21
22:41537234 EP300 G>T	22	41537234	41537234	G	T	EP300	c.2053+8G>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41537234G>T	(Likely) benign	1 lab	f8b478622e
17:17701592 RAI1 C>A	17	17701592	17701592	C	A	RAI1	c.5330C>A	NM_030665.3	NP_109590.3:p.(Ser1777Tyr)	NC_000017.10:g.17701592C>A	(Likely) benign	1 lab	794123dc06
X:122755207 THOC2 A>G	X	122755207	122755207	A	G	THOC2	c.4017T>C	NM_001081550.1	NP_001075019.1:p.(Asp1339=)	NC_000023.10:g.122755207A>G	(Likely) benign	1 lab	79443cbdbb
8:87081716 PSKH2 T>A	8	87081716	87081716	T	A	PSKH2	c.136A>T	NM_033126.3	NP_149117.1:p.(Ile46Leu)	NC_000008.10:g.87081716T>A	VUS	1 lab	f8b700872f
11:58892923 FAM111B C>G	11	58892923	58892923	C	G	FAM111B	c.1353C>G	NM_198947.3	NP_945185.1:p.(Cys451Trp)	NC_000011.9:g.58892923C>G	(Likely) benign	1 lab	794516cced
7:92080017 GATAD1 C>T	7	92080017	92080017	C	T	GATAD1	c.378C>T	NM_021167.4	NP_066990.3:p.(Pro126=)	NC_000007.13:g.92080017C>T	(Likely) benign	1 lab	79457e657c
3:193353223 OPA1 T>C	3	193353223	193353223	T	C	OPA1	c.860T>C	NM_130837.2	NP_570850.2:p.(Ile287Thr)	NC_000003.11:g.193353223T>C	VUS	1 lab	7947b44316
18:28662344 DSC2 G>T	18	28662344	28662344	G	T	DSC2	c.1123C>A	NM_024422.6	NP_077740.1:p.(Arg375=)	NC_000018.9:g.28662344G>T	VUS	1 lab	f8bd2e43ad
6:1611013 FOXC1 C>T	6	1611013	1611013	C	T	FOXC1	c.333C>T	NM_001453.3	NP_001444.2:p.(Arg111=)	NC_000006.11:g.1611013C>T	(Likely) benign	1 lab	794b39c811
17:29661882 NF1 G>T	17	29661882	29661882	G	T	NF1	c.5776G>T	NM_000267.3	NP_000258.1:p.(Glu1926Ter)	NC_000017.10:g.29661882G>T	(Likely) pathogenic	1 lab	794b80d37c
5:167943822 RARS1 G>A	5	167943822	167943822	G	A	RARS1	c.1492G>A	NM_002887.3	NP_002878.2:p.(Val498Ile)	NC_000005.9:g.167943822G>A	(Likely) benign	1 lab	794bfc7bd0
5:1414825 SLC6A3 G>A	5	1414825	1414825	G	A	SLC6A3	c.1137C>T	NM_001044.4	NP_001035.1:p.(Ile379=)	NC_000005.9:g.1414825G>A	(Likely) benign	1 lab	794c854d80
X:48922623 CCDC120 G>A	X	48922623	48922623	G	A	CCDC120				NC_000023.10:g.48922623G>A	VUS	1 lab	794d72cf57
11:78413320 TENM4 C>T	11	78413320	78413320	C	T	TENM4	c.4338G>A	NM_001098816.2	NP_001092286.2:p.(Met1446Ile)	NC_000011.9:g.78413320C>T	(Likely) benign	1 lab	794d7378d7
11:30032483 KCNA4 C>T	11	30032483	30032483	C	T	KCNA4	c.1743G>A	NM_002233.3	NP_002224.1:p.(Gln581=)	NC_000011.9:g.30032483C>T	(Likely) benign	1 lab	794dd37fa3
7:82784872 PCLO G>A	7	82784872	82784872	G	A	PCLO	c.1085C>T	NM_033026.5	NP_149015.2:p.(Pro362Leu)	NC_000007.13:g.82784872G>A	(Likely) benign	1 lab	794f186f1a
X:129150092 BCORL1 C>T	X	129150092	129150092	C	T	BCORL1	c.3344C>T	NM_001184772.2	NP_001171701.1:p.(Pro1115Leu)	NC_000023.10:g.129150092C>T	VUS	1 lab	794f2fd778
9:34647855 GALT C>G	9	34647855	34647855	C	G	GALT	c.404C>G	NM_000155.3	NP_000146.2:p.(Ser135Trp)	NC_000009.11:g.34647855C>G	(Likely) pathogenic	1 lab	794f3d2cdf
2:55189753 EML6 G>A	2	55189753	55189753	G	A	EML6	c.5063G>A	NM_001039753.2	NP_001034842.2:p.(Gly1688Glu)	NC_000002.11:g.55189753G>A	VUS	1 lab	79509491a6
15:57213234 TCF12 C>CGA	15	57213234	57213235	C	CGA	TCF12	c.86_87insGA	NM_207037.1	NP_996920.1:p.(Pro30AsnfsTer58)	NC_000015.9:g.57213234_57213235insGA	(Likely) pathogenic	1 lab	7950a06a94
3:189692412 P3H2 G>A	3	189692412	189692412	G	A	P3H2	c.1387C>T	NM_018192.4	NP_060662.2:p.(Gln463Ter)	NC_000003.11:g.189692412G>A	(Likely) pathogenic	1 lab	7950d4ef02
19:18980958 GDF1 G>A	19	18980958	18980958	G	A	GDF1	c.159C>T	NM_001492.5	NP_001483.3:p.(Pro53=)	NC_000019.9:g.18980958G>A	(Likely) benign	1 lab	7951be8d41
6:91266236 MAP3K7 G>A	6	91266236	91266236	G	A	MAP3K7	c.590C>T	NM_145331.2	NP_663304.1:p.(Ala197Val)	NC_000006.11:g.91266236G>A	VUS	1 lab	7953a0840a
19:9084514 MUC16 G>A	19	9084514	9084514	G	A	MUC16	c.7301C>T	NM_024690.2	NP_078966.2:p.(Thr2434Ile)	NC_000019.9:g.9084514G>A	VUS	1 lab	7953b08ab5
10:118318734 PNLIP G>A	10	118318734	118318734	G	A	PNLIP	c.999G>A	NM_000936.3	NP_000927.1:p.(Gly333=)	NC_000010.10:g.118318734G>A	(Likely) benign	1 lab	7955607300
17:29653190 NF1 A>G	17	29653190	29653190	A	G	NF1	c.5125A>G	NM_000267.3	NP_000258.1:p.(Thr1709Ala)	NC_000017.10:g.29653190A>G	VUS	1 lab	7956a7e8a4
14:68228164 ZFYVE26 G>A	14	68228164	68228164	G	A	ZFYVE26	c.6507C>T	NM_015346.3	NP_056161.2:p.(Asn2169=)	NC_000014.8:g.68228164G>A	(Likely) benign	1 lab	795c1d3364
1:10221248 UBE4B G>A	1	10221248	10221248	G	A	UBE4B	c.3102G>A	NM_001105562.3	NP_001099032.1:p.(Thr1034=)	NC_000001.10:g.10221248G>A	(Likely) benign	1 lab	795c224239
16:88494397 ZNF469 C>G	16	88494397	88494397	C	G	ZNF469				NC_000016.9:g.88494397C>G	(Likely) benign	1 lab	795ca5142f
X:153176377 ARHGAP4 T>C	X	153176377	153176377	T	C	ARHGAP4	c.1800A>G	NM_001164741.1	NP_001158213.1:p.(Arg600=)	NC_000023.10:g.153176377T>C	(Likely) benign	1 lab	795cd22452
2:178095522 NFE2L2 C>T	2	178095522	178095522	C	T	NFE2L2	c.1761G>A	NM_001145412.3	NP_001138884.1:p.(Lys587=)	NC_000002.11:g.178095522C>T	(Likely) benign	1 lab	795e13d864
10:12178142 SEC61A2 G>A	10	12178142	12178142	G	A	SEC61A2	c.114G>A	NM_018144.4	NP_060614.2:p.(Thr38=)	NC_000010.10:g.12178142G>A	(Likely) benign	1 lab	795fa201dc
6:52895863 CILK1 C>T	6	52895863	52895863	C	T	CILK1	c.358G>A	NM_016513.4	NP_057597.2:p.(Gly120Ser)	NC_000006.11:g.52895863C>T	VUS	1 lab	795fa5ed4e
9:140268000 EXD3 C>T	9	140268000	140268000	C	T	EXD3	c.172G>A	NM_017820.5	NP_060290.3:p.(Gly58Arg)	NC_000009.11:g.140268000C>T	(Likely) benign	1 lab	7960b08e48
15:48766469 FBN1 T>C	15	48766469	48766469	T	C	FBN1	c.4193A>G	NM_000138.4	NP_000129.3:p.(Asp1398Gly)	NC_000015.9:g.48766469T>C	VUS	1 lab	79622cd9d6
16:20361086 UMOD T>C	16	20361086	20361086	T	C	UMOD	c.187+7A>G	NM_001278614.1	NP_001265543.1:p.?	NC_000016.9:g.20361086T>C	(Likely) benign	1 lab	79622f5a2e
16:70862245 HYDIN T>C	16	70862245	70862245	T	C	HYDIN	c.14200A>G	NM_001270974.2	NP_001257903.1:p.(Ile4734Val)	NC_000016.9:g.70862245T>C	VUS	1 lab	7962c95e91
22:51136159 MISSING G>A	22	51136159	51136159	G	A	MISSING				NC_000022.10:g.51136159G>A	(Likely) benign	1 lab	7963146784
3:38645440 SCN5A C>G	3	38645440	38645440	C	G	SCN5A	c.1653G>C	NM_001099404.1	NP_001092874.1:p.(Ala551=)	NC_000003.11:g.38645440C>G	(Likely) benign	1 lab	7963ed37bb
X:49093586 CCDC22 C>T	X	49093586	49093586	C	T	CCDC22	c.84C>T	NM_014008.4	NP_054727.1:p.(Ala28=)	NC_000023.10:g.49093586C>T	(Likely) benign	1 lab	796582a10e
16:2134637 TSC2 G>A	16	2134637	2134637	G	A	TSC2	c.4414G>A	NM_000548.3	NP_000539.2:p.(Gly1472Ser)	NC_000016.9:g.2134637G>A	(Likely) benign	1 lab	79660b5f8f
1:16459983 EPHA2 G>A	1	16459983	16459983	G	A	EPHA2	c.1857C>T	NM_004431.4	NP_004422.2:p.(Ile619=)	NC_000001.10:g.16459983G>A	(Likely) benign	1 lab	796702fb2e
22:26995469 CRYBB1 T>C	22	26995469	26995469	T	C	CRYBB1	c.744A>G	NM_001887.4	NP_001878.1:p.(Thr248=)	NC_000022.10:g.26995469T>C	VUS	1 lab	796958870a
2:227968771 COL4A4 TA>T	2	227968771	227968781	TA	T	COL4A4	c.736-4del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227968781del	(Likely) benign	1 lab	796cd5ea53
3:123650020 CCDC14 C>T	3	123650020	123650020	C	T	CCDC14	c.1251G>A	NM_001308317.2	NP_001295246.1:p.(Lys417=)	NC_000003.11:g.123650020C>T	(Likely) benign	1 lab	796db7f7cb
15:23891003 MAGEL2 G>A	15	23891003	23891003	G	A	MAGEL2	c.1887C>T	NM_019066.4	NP_061939.3:p.(Pro629=)	NC_000015.9:g.23891003G>A	(Likely) benign	1 lab	796e0cdcc2
17:29556335 NF1 T>G	17	29556335	29556335	T	G	NF1	c.2702T>G	NM_000267.3	NP_000258.1:p.(Leu901Ter)	NC_000017.10:g.29556335T>G	(Likely) pathogenic	1 lab	79717a5382
3:47164564 SETD2 G>A	3	47164564	47164564	G	A	SETD2	c.1562C>T	NM_014159.6	NP_054878.5:p.(Thr521Ile)	NC_000003.11:g.47164564G>A	(Likely) benign	1 lab	7971f11413
22:24129390 SMARCB1 C>T	22	24129390	24129390	C	T	SMARCB1	c.34C>T	NM_003073.3	NP_003064.2:p.(Gln12Ter)	NC_000022.10:g.24129390C>T	(Likely) pathogenic	1 lab	7976cbdba8
17:40716862 COASY G>A	17	40716862	40716862	G	A	COASY	c.1183G>A	NM_025233.6	NP_079509.5:p.(Ala395Thr)	NC_000017.10:g.40716862G>A	VUS	1 lab	7977a507a4
17:6493199 KIAA0753 G>A	17	6493199	6493199	G	A	KIAA0753	c.1789C>T	NM_001351225.1	NP_001338154.1:p.(Gln597Ter)	NC_000017.10:g.6493199G>A	(Likely) pathogenic	1 lab	7977d3d8c5
5:140589693 PCDHB12 CAGAG>C	5	140589693	140589700	CAGAG	C	PCDHB12	c.1218_1221del	NM_018932.4	NP_061755.1:p.(Glu406AspfsTer25)	NC_000005.9:g.140589697_140589700del	VUS	1 lab	7978acd13c
X:51239060 NUDT11 G>A	X	51239060	51239060	G	A	NUDT11	c.237C>T	NM_018159.4	NP_060629.2:p.(Leu79=)	NC_000023.10:g.51239060G>A	(Likely) benign	1 lab	7978d95d1e
X:65423211 HEPH T>C	X	65423211	65423211	T	C	HEPH	c.2245T>C	NM_138737.4	NP_620074.3:p.(Phe749Leu)	NC_000023.10:g.65423211T>C	VUS	1 lab	797903bef0
19:6426491 SLC25A41 C>T	19	6426491	6426491	C	T	SLC25A41	c.1022G>A	NM_173637.3	NP_775908.2:p.(Arg341Gln)	NC_000019.9:g.6426491C>T	VUS	1 lab	7979ba836e
18:44146406 LOXHD1 G>T	18	44146406	44146406	G	T	LOXHD1	c.2251C>A	NM_144612.6	NP_653213.6:p.(Arg751=)	NC_000018.9:g.44146406G>T	(Likely) benign	1 lab	797b5809e3
3:49136944 QARS1 G>A	3	49136944	49136944	G	A	QARS1	c.1525C>T	NM_005051.2	NP_005042.1:p.(Arg509Trp)	NC_000003.11:g.49136944G>A	VUS	1 lab	797c6b77c1
8:100454848 VPS13B C>T	8	100454848	100454848	C	T	VPS13B	c.3430C>T	NM_017890.4	NP_060360.3:p.(Pro1144Ser)	NC_000008.10:g.100454848C>T	VUS	1 lab	797f6ae78b
11:777455 GATD1 G>A	11	777455	777455	G	A	GATD1	c.8C>T	NM_001318821.1	NP_001305750.1:p.(Ser3Phe)	NC_000011.9:g.777455G>A	VUS	1 lab	adb34ee4b0
2:239241532 TRAF3IP1 CAG>C	2	239241532	239241536	CAG	C	TRAF3IP1	c.986_987del	NM_015650.4	NP_056465.2:p.(Glu329AspfsTer2)	NC_000002.11:g.239241535_239241536del	(Likely) pathogenic	1 lab	79816e3b03
19:42410877 ARHGEF1 G>A	19	42410877	42410877	G	A	ARHGEF1	c.2723G>A	NM_199002.1	NP_945353.1:p.(Arg908His)	NC_000019.9:g.42410877G>A	VUS	1 lab	798307add1
12:49426728 KMT2D T>C	12	49426728	49426728	T	C	KMT2D	c.11760A>G	NM_003482.3	NP_003473.3:p.(Leu3920=)	NC_000012.11:g.49426728T>C	VUS	1 lab	7985e34e77
19:630159 POLRMT G>A	19	630159	630159	G	A	POLRMT	c.203C>T	NM_005035.4	NP_005026.3:p.(Ala68Val)	NC_000019.9:g.630159G>A	VUS	1 lab	f8c788a391
14:50769728 L2HGDH C>T	14	50769728	50769728	C	T	L2HGDH	c.148G>A	NM_024884.2	NP_079160.1:p.(Asp50Asn)	NC_000014.8:g.50769728C>T	VUS	1 lab	7987a44f8d
5:149324041 PDE6A G>A	5	149324041	149324041	G	A	PDE6A	c.196C>T	NM_000440.2	NP_000431.2:p.(Arg66Trp)	NC_000005.9:g.149324041G>A	VUS	1 lab	79887a8a6e
13:23906719 SACS C>T	13	23906719	23906719	C	T	SACS	c.11296G>A	NM_014363.5	NP_055178.3:p.(Val3766Ile)	NC_000013.10:g.23906719C>T	VUS	1 lab	798890d915
5:1244334 SLC6A18 G>A	5	1244334	1244334	G	A	SLC6A18	c.1342G>A	NM_182632.3	NP_872438.2:p.(Val448Ile)	NC_000005.9:g.1244334G>A	(Likely) benign	1 lab	7988db0e68
X:46513096 SLC9A7 G>C	X	46513096	46513096	G	C	SLC9A7	c.1092C>G	NM_032591.2	NP_115980.1:p.(Phe364Leu)	NC_000023.10:g.46513096G>C	VUS	1 lab	798ca52f78
17:74474976 RHBDF2 C>T	17	74474976	74474976	C	T	RHBDF2	c.671G>A	NM_024599.5	NP_078875.4:p.(Ser224Asn)	NC_000017.10:g.74474976C>T	VUS	1 lab	798f8d6f00
1:150531060 ADAMTSL4 A>G	1	150531060	150531060	A	G	ADAMTSL4	c.2563A>G	NM_001288608.1	NP_001275537.1:p.(Ser855Gly)	NC_000001.10:g.150531060A>G	VUS	1 lab	7991e119a5
X:9707769 GPR143 G>A	X	9707769	9707769	G	A	GPR143	c.886-10C>T	NM_000273.2	NP_000264.2:p.?	NC_000023.10:g.9707769G>A	(Likely) benign	1 lab	7991e13203
1:39827126 MACF1 C>A	1	39827126	39827126	C	A	MACF1	c.6362C>A	NM_012090.5	NP_036222.3:p.(Ala2121Glu)	NC_000001.10:g.39827126C>A	VUS	1 lab	f8c8f262fa
9:138670580 KCNT1 G>A	9	138670580	138670580	G	A	KCNT1	c.2641G>A	NM_020822.2	NP_065873.2:p.(Val881Met)	NC_000009.11:g.138670580G>A	VUS	1 lab	7992b7e568
5:138661170 MATR3 G>A	5	138661170	138661170	G	A	MATR3	c.2190G>A	NM_199189.2	NP_954659.1:p.(Ala730=)	NC_000005.9:g.138661170G>A	(Likely) benign	1 lab	7993084a27
8:100883717 VPS13B C>A	8	100883717	100883717	C	A	VPS13B	c.11612C>A	NM_017890.4	NP_060360.3:p.(Ala3871Asp)	NC_000008.10:g.100883717C>A	VUS	1 lab	799364b2a4
2:3730537 ALLC A>T	2	3730537	3730537	A	T	ALLC	c.384A>T	NM_018436.4	NP_060906.3:p.(Lys128Asn)	NC_000002.11:g.3730537A>T	(Likely) benign	1 lab	79938e8442
1:198671574 PTPRC G>T	1	198671574	198671574	G	T	PTPRC	c.498G>T	NM_002838.4	NP_002829.3:p.(Leu166Phe)	NC_000001.10:g.198671574G>T	(Likely) benign	1 lab	7994d57296
2:122154862 CLASP1 G>GA	2	122154862	122154865	G	GA	CLASP1	c.2980-4dup	NM_015282.2	NP_056097.1:p.?	NC_000002.11:g.122154865dup	(Likely) benign	1 lab	79951465a1
4:126355413 FAT4 G>T	4	126355413	126355413	G	T	FAT4	c.7032G>T	NM_001291303.1	NP_001278232.1:p.(Leu2344Phe)	NC_000004.11:g.126355413G>T	VUS	1 lab	799670213d
14:88857762 SPATA7 G>T	14	88857762	88857762	G	T	SPATA7	c.57G>T	NM_018418.4	NP_060888.2:p.(Pro19=)	NC_000014.8:g.88857762G>T	(Likely) benign	1 lab	799a43020c
19:42470764 ATP1A3 T>G	19	42470764	42470764	T	G	ATP1A3	c.*325A>C	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42470764T>G	(Likely) benign	1 lab	799c5f77bd
X:22291633 CBLL2 C>T	X	22291633	22291633	C	T	CBLL2	c.525C>T	NM_152577.3	NP_689790.1:p.(Asp175=)	NC_000023.10:g.22291633C>T	(Likely) benign	1 lab	799d5c20a2
3:14706560 CCDC174 C>T	3	14706560	14706560	C	T	CCDC174	c.511C>T	NM_016474.4	NP_057558.3:p.(Arg171Cys)	NC_000003.11:g.14706560C>T	VUS	1 lab	799e8dcd96
9:135797330 TSC1 A>G	9	135797330	135797330	A	G	TSC1	c.539T>C	NM_000368.4	NP_000359.1:p.(Leu180Pro)	NC_000009.11:g.135797330A>G	(Likely) pathogenic	1 lab	799ea07b5f
16:1651721 IFT140 G>GT	16	1651721	1651722	G	GT	IFT140	c.369+649dup	NM_014714.3	NP_055529.2:p.?	NC_000016.9:g.1651722dup	(Likely) benign	1 lab	799f854599
22:50664735 TUBGCP6 G>A	22	50664735	50664735	G	A	TUBGCP6	c.1674C>T	NM_020461.3	NP_065194.2:p.(His558=)	NC_000022.10:g.50664735G>A	(Likely) benign	1 lab	799faf5cce
8:145007512 PLEC C>T	8	145007512	145007512	C	T	PLEC	c.1682G>A	NM_201380.3	NP_958782.1:p.(Arg561Gln)	NC_000008.10:g.145007512C>T	VUS	1 lab	79a1912fb7
9:139396341 NOTCH1 C>G	9	139396341	139396341	C	G	NOTCH1	c.5497G>C	NM_017617.5	NP_060087.3:p.(Asp1833His)	NC_000009.11:g.139396341C>G	VUS	1 lab	79a1fe21ca
12:95388025 NDUFA12 G>A	12	95388025	95388025	G	A	NDUFA12	c.178C>T	NM_018838.4	NP_061326.1:p.(Arg60Ter)	NC_000012.11:g.95388025G>A	(Likely) pathogenic	1 lab	79a29ef7f6
11:124745102 ROBO3 C>A	11	124745102	124745102	C	A	ROBO3	c.2169C>A	NM_022370.3	NP_071765.2:p.(Ser723=)	NC_000011.9:g.124745102C>A	(Likely) benign	1 lab	79a310b768
16:88782056 PIEZO1 C>T	16	88782056	88782056	C	T	PIEZO1	c.7523G>A	NM_001142864.4	NP_001136336.2:p.(Arg2508His)	NC_000016.9:g.88782056C>T	VUS	1 lab	79a4094005
6:7580391 DSP A>G	6	7580391	7580391	A	G	DSP	c.3968A>G	NM_004415.2	NP_004406.2:p.(Lys1323Arg)	NC_000006.11:g.7580391A>G	VUS	1 lab	79a504ba74
17:29701195 NF1 A>G	17	29701195	29701195	A	G	NF1	c.*22A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29701195A>G	VUS	1 lab	79a5664581
9:139316420 PMPCA C>T	9	139316420	139316420	C	T	PMPCA	c.1400C>T	NM_015160.2	NP_055975.1:p.(Thr467Met)	NC_000009.11:g.139316420C>T	(Likely) benign	1 lab	79a5b97f65
16:89261352 CDH15 T>C	16	89261352	89261352	T	C	CDH15	c.2234T>C	NM_004933.2	NP_004924.1:p.(Val745Ala)	NC_000016.9:g.89261352T>C	VUS	1 lab	79a6a641fd
17:80037462 FASN A>C	17	80037462	80037462	A	C	FASN	c.7169T>G	NM_004104.5	NP_004095.4:p.(Leu2390Arg)	NC_000017.10:g.80037462A>C	VUS	1 lab	79a6b16366
2:238233443 COL6A3 C>T	2	238233443	238233443	C	T	COL6A3	c.9508G>A	NM_004369.3	NP_004360.2:p.(Gly3170Arg)	NC_000002.11:g.238233443C>T	(Likely) benign	1 lab	79a82e7943
22:21348020 LZTR1 G>T	22	21348020	21348020	G	T	LZTR1	c.1330G>T	NM_006767.4	NP_006758.2:p.(Asp444Tyr)	NC_000022.10:g.21348020G>T	VUS	1 lab	f8c97f6501
11:65638688 EFEMP2 C>T	11	65638688	65638688	C	T	EFEMP2	c.307G>A	NM_016938.4	NP_058634.4:p.(Ala103Thr)	NC_000011.9:g.65638688C>T	(Likely) benign	1 lab	79a9dd71d4
11:118390323 KMT2A ATTC>A	11	118390323	118390330	ATTC	A	KMT2A	c.11147-5_11147-3del	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118390328_118390330del	(Likely) benign	1 lab	79ab389f2d
13:47262029 LRCH1 A>G	13	47262029	47262029	A	G	LRCH1	c.865A>G	NM_001164211.2	NP_001157683.2:p.(Ile289Val)	NC_000013.10:g.47262029A>G	(Likely) benign	1 lab	79ad0d8c21
9:136501728 DBH C>T	9	136501728	136501728	C	T	DBH	c.235C>T	NM_000787.3	NP_000778.3:p.(Arg79Trp)	NC_000009.11:g.136501728C>T	(Likely) benign	1 lab	79ad9e288c
12:103249011 PAH G>A	12	103249011	103249011	G	A	PAH	c.609C>T	NM_001354304.1	NP_001341233.1:p.(Cys203=)	NC_000012.11:g.103249011G>A	(Likely) benign	1 lab	79ae1ffbea
3:164748543 SI G>T	3	164748543	164748543	G	T	SI	c.2849C>A	NM_001041.3	NP_001032.2:p.(Ala950Glu)	NC_000003.11:g.164748543G>T	(Likely) benign	1 lab	79ae7f11f0
11:124761356 ROBO4 C>T	11	124761356	124761356	C	T	ROBO4	c.1787G>A	NM_019055.5	NP_061928.4:p.(Arg596Lys)	NC_000011.9:g.124761356C>T	(Likely) benign	1 lab	79af41f133
14:94405997 ASB2 C>T	14	94405997	94405997	C	T	ASB2	c.1074G>A	NM_001202429.1	NP_001189358.1:p.(Pro358=)	NC_000014.8:g.94405997C>T	(Likely) benign	1 lab	79b2af4cbc
6:16327687 ATXN1 G>A	6	16327687	16327687	G	A	ATXN1	c.855C>T	NM_000332.3	NP_000323.2:p.(Pro285=)	NC_000006.11:g.16327687G>A	(Likely) benign	1 lab	79b2dc4a37
17:73750774 ITGB4 A>G	17	73750774	73750774	A	G	ITGB4	c.4436A>G	NM_000213.4	NP_000204.3:p.(His1479Arg)	NC_000017.10:g.73750774A>G	(Likely) benign	1 lab	79b363b9e5
17:17699669 RAI1 C>T	17	17699669	17699669	C	T	RAI1	c.3407C>T	NM_030665.3	NP_109590.3:p.(Thr1136Met)	NC_000017.10:g.17699669C>T	(Likely) benign	1 lab	79b3e82e7c
20:45354647 SLC2A10 C>T	20	45354647	45354647	C	T	SLC2A10	c.972C>T	NM_030777.3	NP_110404.1:p.(Asp324=)	NC_000020.10:g.45354647C>T	(Likely) benign	1 lab	79b9ccefef
15:43044852 TTBK2 T>C	15	43044852	43044852	T	C	TTBK2	c.2592A>G	NM_173500.3	NP_775771.3:p.(Glu864=)	NC_000015.9:g.43044852T>C	(Likely) benign	1 lab	79bb572d8a
2:234358771 DGKD C>T	2	234358771	234358771	C	T	DGKD	c.2032C>T	NM_152879.2	NP_690618.2:p.(Arg678Cys)	NC_000002.11:g.234358771C>T	VUS	1 lab	79bbed30b7
2:172314483 DCAF17 T>C	2	172314483	172314483	T	C	DCAF17	c.630T>C	NM_025000.3	NP_079276.2:p.(Ile210=)	NC_000002.11:g.172314483T>C	(Likely) benign	1 lab	79bc44854d
20:3870266 PANK2 C>G	20	3870266	3870266	C	G	PANK2	c.519C>G	NM_153638.2	NP_705902.2:p.(Pro173=)	NC_000020.10:g.3870266C>G	(Likely) benign	1 lab	79bdc72c64
18:56586758 ZNF532 C>T	18	56586758	56586758	C	T	ZNF532	c.1239C>T	NM_018181.5	NP_060651.2:p.(Ala413=)	NC_000018.9:g.56586758C>T	(Likely) benign	1 lab	79c05fd75a
X:10181900 CLCN4 G>A	X	10181900	10181900	G	A	CLCN4	c.1756G>A	NM_001830.3	NP_001821.2:p.(Val586Met)	NC_000023.10:g.10181900G>A	VUS	1 lab	79c489ca99
8:61769289 CHD7 C>CT	8	61769289	61769290	C	CT	CHD7	c.7451dup	NM_017780.2	NP_060250.2:p.(Leu2485AlafsTer15)	NC_000008.10:g.61769290dup	(Likely) pathogenic	1 lab	79c59556a4
9:123792742 C5 T>C	9	123792742	123792742	T	C	C5	c.709A>G	NM_001317163.1	NP_001304092.1:p.(Ile237Val)	NC_000009.11:g.123792742T>C	(Likely) benign	1 lab	79c61dfe62
17:7752258 KDM6B G>A	17	7752258	7752258	G	A	KDM6B	c.2652G>A	NM_001080424.2	NP_001073893.1:p.(Ala884=)	NC_000017.10:g.7752258G>A	(Likely) benign	1 lab	79c6450d9a
X:66937343 AR G>A	X	66937343	66937343	G	A	AR	c.2197G>A	NM_000044.4	NP_000035.2:p.(Asp733Asn)	NC_000023.10:g.66937343G>A	(Likely) pathogenic	1 lab	79c6f94111
18:32374029 DTNA A>G	18	32374029	32374029	A	G	DTNA	c.177A>G	NM_001198939.2	NP_001185868.1:p.(Ile59Met)	NC_000018.9:g.32374029A>G	VUS	1 lab	f8cbcd22c1
18:7033038 LAMA1 G>A	18	7033038	7033038	G	A	LAMA1	c.2108C>T	NM_005559.3	NP_005550.2:p.(Ala703Val)	NC_000018.9:g.7033038G>A	VUS	1 lab	79c7cf3e0c
21:47848496 PCNT G>A	21	47848496	47848496	G	A	PCNT	c.7682G>A	NM_006031.5	NP_006022.3:p.(Arg2561His)	NC_000021.8:g.47848496G>A	(Likely) benign	1 lab	79caf65989
3:132244562 DNAJC13 G>T	3	132244562	132244562	G	T	DNAJC13	c.6184G>T	NM_001329126.1	NP_001316055.1:p.(Ala2062Ser)	NC_000003.11:g.132244562G>T	VUS	1 lab	79cb431591
19:50910380 POLD1 C>T	19	50910380	50910380	C	T	POLD1	c.1635C>T	NM_001308632.1	NP_001295561.1:p.(Tyr545=)	NC_000019.9:g.50910380C>T	(Likely) benign	1 lab	79cb4db198
19:18991172 CERS1 G>A	19	18991172	18991172	G	A	CERS1	c.663C>T	NM_021267.4	NP_067090.1:p.(Leu221=)	NC_000019.9:g.18991172G>A	(Likely) benign	1 lab	79cd3a721c
2:179654758 TTN C>G	2	179654758	179654758	C	G	TTN	c.1885G>C	NM_001267550.1	NP_001254479.1:p.(Gly629Arg)	NC_000002.11:g.179654758C>G	VUS	1 lab	79cdb93531
15:65930468 SLC24A1 G>A	15	65930468	65930468	G	A	SLC24A1	c.1893G>A	NM_004727.2	NP_004718.1:p.(Pro631=)	NC_000015.9:g.65930468G>A	(Likely) benign	1 lab	79cdb9abfb
7:21894071 DNAH11 A>C	7	21894071	21894071	A	C	DNAH11				NC_000007.13:g.21894071A>C	VUS	1 lab	79cdd1976e
17:17697213 RAI1 A>AGGCCAGGGCTACTGCC	17	17697213	17697229	A	AGGCCAGGGCTACTGCC	RAI1	c.952_967dup	NM_030665.4	NP_109590.3:p.(Gln323ArgfsTer71)	NC_000017.10:g.17697214_17697229dup	(Likely) pathogenic	1 lab	f8ccb78e78
17:7125341 ACADVL T>A	17	7125341	7125341	T	A	ACADVL	c.465T>A	NM_001270448.1	NP_001257377.1:p.(Ser155=)	NC_000017.10:g.7125341T>A	(Likely) benign	1 lab	79d1bfd5ed
11:66488620 SPTBN2 G>A	11	66488620	66488620	G	A	SPTBN2	c.92C>T	NM_006946.3	NP_008877.1:p.(Ser31Leu)	NC_000011.9:g.66488620G>A	(Likely) benign	1 lab	79d207bc96
12:64199152 RXYLT1 C>T	12	64199152	64199152	C	T	RXYLT1	c.882C>T	NM_014254.2	NP_055069.1:p.(Asn294=)	NC_000012.11:g.64199152C>T	(Likely) benign	1 lab	79d26b4bd1
19:55877450 IL11 G>A	19	55877450	55877450	G	A	IL11	c.525C>T	NM_000641.4	NP_000632.1:p.(His175=)	NC_000019.9:g.55877450G>A	(Likely) benign	1 lab	79d7902601
12:102224491 GNPTAB AGCC>A	12	102224491	102224515	AGCC	A	GNPTAB	c.-41_-39del	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102224513_102224515del	(Likely) benign	1 lab	79d84ab16f
19:7528758 ARHGEF18 C>T	19	7528758	7528758	C	T	ARHGEF18	c.1652C>T	NM_015318.3	NP_056133.2:p.(Ala551Val)	NC_000019.9:g.7528758C>T	(Likely) benign	1 lab	79d96c045a
8:62415992 ASPH G>A	8	62415992	62415992	G	A	ASPH	c.2203C>T	NM_004318.3	NP_004309.2:p.(Arg735Trp)	NC_000008.10:g.62415992G>A	VUS	1 lab	79daa4c85c
18:44089768 LOXHD1 C>A	18	44089768	44089768	C	A	LOXHD1	c.5224G>T	NM_144612.6	NP_653213.6:p.(Glu1742Ter)	NC_000018.9:g.44089768C>A	(Likely) pathogenic	1 lab	79dc9c0d9e
9:98224207 PTCH1 G>A	9	98224207	98224207	G	A	PTCH1	c.2436C>T	NM_001083602.1	NP_001077071.1:p.(Asp812=)	NC_000009.11:g.98224207G>A	(Likely) benign	1 lab	79df4f728d
2:74777453 LOXL3 C>T	2	74777453	74777453	C	T	LOXL3	c.336G>A	NM_032603.4	NP_115992.1:p.(Leu112=)	NC_000002.11:g.74777453C>T	(Likely) benign	1 lab	79df5405bb
1:39765930 MACF1 G>A	1	39765930	39765930	G	A	MACF1	c.2545G>A	NM_012090.5	NP_036222.3:p.(Val849Ile)	NC_000001.10:g.39765930G>A	VUS	1 lab	79dfa85ab2
22:50656812 TUBGCP6 G>A	22	50656812	50656812	G	A	TUBGCP6	c.4974C>T	NM_020461.3	NP_065194.2:p.(Ala1658=)	NC_000022.10:g.50656812G>A	(Likely) benign	1 lab	79e0b6b18e
13:86370041 SLITRK6 A>C	13	86370041	86370041	A	C	SLITRK6	c.603T>G	NM_032229.3	NP_115605.2:p.(Val201=)	NC_000013.10:g.86370041A>C	(Likely) benign	1 lab	79e23c5f51
4:657978 PDE6B G>C	4	657978	657978	G	C	PDE6B	c.2097G>C	NM_000283.3	NP_000274.2:p.(Leu699=)	NC_000004.11:g.657978G>C	(Likely) benign	1 lab	79e298ed03
19:8665924 ADAMTS10 C>T	19	8665924	8665924	C	T	ADAMTS10	c.698G>A	NM_030957.3	NP_112219.3:p.(Arg233Gln)	NC_000019.9:g.8665924C>T	VUS	1 lab	79eaabfa66
15:48426659 SLC24A5 G>A	15	48426659	48426659	G	A	SLC24A5	c.413G>A	NM_205850.2	NP_995322.1:p.(Gly138Asp)	NC_000015.9:g.48426659G>A	VUS	1 lab	79ec8b211e
1:6488328 ESPN C>T	1	6488328	6488328	C	T	ESPN	c.337C>T	NM_031475.3	NP_113663.2:p.(Arg113Cys)	NC_000001.10:g.6488328C>T	VUS	1 lab	79eec78fac
10:85958841 CDHR1 G>T	10	85958841	85958841	G	T	CDHR1	c.402G>T	NM_033100.4	NP_149091.1:p.(Arg134Ser)	NC_000010.10:g.85958841G>T	(Likely) benign	1 lab	79eee2a270
11:47353622 MYBPC3 C>T	11	47353622	47353622	C	T	MYBPC3	c.3814+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353622C>T	(Likely) pathogenic	1 lab	79efcc430e
19:45856100 ERCC2 G>A	19	45856100	45856100	G	A	ERCC2	c.1832-26C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45856100G>A	(Likely) benign	1 lab	79f00d39e9
14:102504856 DYNC1H1 A>AG	14	102504856	102504862	A	AG	DYNC1H1	c.10974dup	NM_001376.4	NP_001367.2:p.(Arg3659GlufsTer48)	NC_000014.8:g.102504862dup	(Likely) pathogenic	1 lab	79f05db205
5:74986335 POC5 T>C	5	74986335	74986335	T	C	POC5	c.848A>G	NM_001099271.1	NP_001092741.1:p.(Lys283Arg)	NC_000005.9:g.74986335T>C	VUS	1 lab	79f0f9f1a0
13:110838748 COL4A1 T>C	13	110838748	110838748	T	C	COL4A1	c.1881A>G	NM_001845.5	NP_001836.3:p.(Gly627=)	NC_000013.10:g.110838748T>C	(Likely) benign	1 lab	79f11f7d35
X:48762056 SLC35A2 C>T	X	48762056	48762056	C	T	SLC35A2	c.1214G>A	NM_001282651.1	NP_001269580.1:p.(Arg405His)	NC_000023.10:g.48762056C>T	(Likely) benign	1 lab	79f175458b
14:23884281 MYH7 C>T	14	23884281	23884281	C	T	MYH7	c.5482G>A	NM_000257.4	NP_000248.2:p.(Ala1828Thr)	NC_000014.8:g.23884281C>T	(Likely) benign	1 lab	f8d2d93d5e
14:105416088 AHNAK2 G>A	14	105416088	105416088	G	A	AHNAK2	c.5700C>T	NM_138420.3	NP_612429.2:p.(Ala1900=)	NC_000014.8:g.105416088G>A	(Likely) benign	1 lab	79f5107d65
4:88535830 DSPP T>C	4	88535830	88535830	T	C	DSPP	c.2016T>C	NM_014208.3	NP_055023.2:p.(Ser672=)	NC_000004.11:g.88535830T>C	(Likely) benign	1 lab	79f5c28683
16:1657257 IFT140 T>C	16	1657257	1657257	T	C	IFT140	c.11A>G	NM_014714.4	NP_055529.2:p.(Tyr4Cys)	NC_000016.9:g.1657257T>C	VUS	1 lab	f8d41b404a
X:153586537 FLNA CT>C	X	153586537	153586538	CT	C	FLNA	c.4755+29del	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153586538del	(Likely) benign	1 lab	79fb8c0b08
6:43336983 ZNF318 G>A	6	43336983	43336983	G	A	ZNF318	c.121C>T	NM_014345.3	NP_055160.2:p.(Pro41Ser)	NC_000006.11:g.43336983G>A	(Likely) benign	1 lab	79fcf6ea2f
7:150642529 KCNH2 C>T	7	150642529	150642529	C	T	KCNH2	c.3404G>A	NM_000238.3	NP_000229.1:p.(Arg1135His)	NC_000007.13:g.150642529C>T	VUS	1 lab	79fd086b93
19:10251451 DNMT1 G>A	19	10251451	10251451	G	A	DNMT1	c.3523+6C>T	NM_001130823.1	NP_001124295.1:p.?	NC_000019.9:g.10251451G>A	(Likely) benign	1 lab	7a00157270
X:24226414 ZFX C>T	X	24226414	24226414	C	T	ZFX	c.1137C>T	NM_001330327.1	NP_001317256.1:p.(Ala379=)	NC_000023.10:g.24226414C>T	(Likely) benign	1 lab	7a002f7202
11:74547421 RNF169 A>T	11	74547421	74547421	A	T	RNF169	c.1773A>T	NM_001098638.2	NP_001092108.1:p.(Gln591His)	NC_000011.9:g.74547421A>T	(Likely) benign	1 lab	7a017ccafa
21:45389040 AGPAT3 C>T	21	45389040	45389040	C	T	AGPAT3	c.390C>T	NM_020132.5	NP_064517.1:p.(Pro130=)	NC_000021.8:g.45389040C>T	(Likely) benign	1 lab	7a0237a8b9
3:127334773 MCM2 G>C	3	127334773	127334773	G	C	MCM2	c.1497G>C	NM_004526.3	NP_004517.2:p.(Leu499=)	NC_000003.11:g.127334773G>C	(Likely) benign	1 lab	7a0562e428
11:66263126 DPP3 G>A	11	66263126	66263126	G	A	DPP3	c.1603G>A	NM_130443.3	NP_569710.2:p.(Ala535Thr)	NC_000011.9:g.66263126G>A	VUS	1 lab	7a082e8fa5
6:152623029 SYNE1 G>A	6	152623029	152623029	G	A	SYNE1	c.17516C>T	NM_182961.3	NP_892006.3:p.(Pro5839Leu)	NC_000006.11:g.152623029G>A	(Likely) benign	1 lab	7a095c0f85
16:15815314 MYH11 C>T	16	15815314	15815314	C	T	MYH11	c.4564G>A	NM_001040113.1	NP_001035202.1:p.(Asp1522Asn)	NC_000016.9:g.15815314C>T	VUS	1 lab	7a09a44a6b
7:24738856 GSDME CCAT>C	7	24738856	24738864	CCAT	C	GSDME	c.1277_1279del	NM_001127453.2	NP_001120925.1:p.(Asp426del)	NC_000007.13:g.24738862_24738864del	VUS	1 lab	7a0a0897c1
18:3447753 TGIF1 A>T	18	3447753	3447753	A	T	TGIF1	c.16A>T	NM_173207.2	NP_775299.1:p.(Lys6Ter)	NC_000018.9:g.3447753A>T	VUS	1 lab	7a0a0c65c4
X:46387831 ZNF674 G>C	X	46387831	46387831	G	C	ZNF674	c.192C>G	NM_001039891.2	NP_001034980.1:p.(Asp64Glu)	NC_000023.10:g.46387831G>C	(Likely) benign	1 lab	7a0a34ae8b
3:75790786 ZNF717 C>G	3	75790786	75790786	C	G	ZNF717	c.159G>C	NM_001128223.3	NP_001121695.1:p.(Glu53Asp)	NC_000003.11:g.75790786C>G	(Likely) benign	1 lab	7a0b9da625
4:126411431 FAT4 C>T	4	126411431	126411431	C	T	FAT4	c.13460C>T	NM_001291303.1	NP_001278232.1:p.(Ala4487Val)	NC_000004.11:g.126411431C>T	(Likely) benign	1 lab	7a0edafd27
12:9086873 PHC1 A>G	12	9086873	9086873	A	G	PHC1	c.2052A>G	NM_004426.2	NP_004417.2:p.(Glu684=)	NC_000012.11:g.9086873A>G	(Likely) benign	1 lab	7a102022bd
6:152738157 SYNE1 G>A	6	152738157	152738157	G	A	SYNE1	c.5422-7C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152738157G>A	(Likely) benign	1 lab	7a106580c0
1:86361720 COL24A1 C>T	1	86361720	86361720	C	T	COL24A1	c.2861G>A	NM_152890.6	NP_690850.2:p.(Gly954Glu)	NC_000001.10:g.86361720C>T	(Likely) pathogenic	1 lab	7a11c447a8
19:42776313 CIC C>T	19	42776313	42776313	C	T	CIC	c.378C>T	NM_001304815.1	NP_001291744.1:p.(His126=)	NC_000019.9:g.42776313C>T	(Likely) benign	1 lab	7a12e0e9ea
X:43587432 MAOA G>A	X	43587432	43587432	G	A	MAOA	c.117G>A	NM_001270458.1	NP_001257387.1:p.(Arg39=)	NC_000023.10:g.43587432G>A	(Likely) benign	1 lab	7a1311c2c9
1:26383780 TRIM63 G>A	1	26383780	26383780	G	A	TRIM63	c.893C>T	NM_032588.3	NP_115977.2:p.(Thr298Ile)	NC_000001.10:g.26383780G>A	(Likely) benign	1 lab	7a1347866f
1:1455628 ATAD3A C>T	1	1455628	1455628	C	T	ATAD3A	c.622C>T	NM_001170535.3	NP_001164006.1:p.(Arg208Cys)	NC_000001.10:g.1455628C>T	VUS	1 lab	f8d571d873
21:47836147 PCNT GTTGGAGAGCA>G	21	47836147	47836157	GTTGGAGAGCA	G	PCNT	c.6316_6325del	NM_006031.6	NP_006022.3:p.(Leu2106AlafsTer18)	NC_000021.8:g.47836148_47836157del	(Likely) pathogenic	1 lab	7a15a3db33
3:14174069 TMEM43 TGAA>T	3	14174069	14174076	TGAA	T	TMEM43	c.421_423del	NM_024334.3	NP_077310.1:p.(Lys141del)	NC_000003.11:g.14174074_14174076del	VUS	1 lab	7a15b15b47
17:80043549 FASN C>T	17	80043549	80043549	C	T	FASN	c.3931G>A	NM_004104.5	NP_004095.4:p.(Asp1311Asn)	NC_000017.10:g.80043549C>T	(Likely) benign	1 lab	7a15c56045
7:137782593 AKR1D1 CT>C	7	137782593	137782608	CT	C	AKR1D1	c.379-4del	NM_005989.4	NP_005980.1:p.?	NC_000007.13:g.137782608del	(Likely) benign	1 lab	f8d60f2a6f
X:53277309 IQSEC2 T>A	X	53277309	53277309	T	A	IQSEC2	c.2569A>T	NM_001111125.3	NP_001104595.1:p.(Ile857Phe)	NC_000023.10:g.53277309T>A	VUS	1 lab	f8d7941ce1
X:125686247 DCAF12L1 G>C	X	125686247	125686247	G	C	DCAF12L1	c.345C>G	NM_178470.4	NP_848565.2:p.(Thr115=)	NC_000023.10:g.125686247G>C	(Likely) benign	1 lab	7a17b1d965
15:54306250 UNC13C C>A	15	54306250	54306250	C	A	UNC13C	c.1150C>A	NM_001080534.2	NP_001074003.1:p.(Pro384Thr)	NC_000015.9:g.54306250C>A	VUS	1 lab	7a19fe791a
16:2134715 TSC2 AG>A	16	2134715	2134717	AG	A	TSC2	c.4493+1del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134717del	(Likely) pathogenic	1 lab	7a1a23849b
19:7600805 PNPLA6 C>T	19	7600805	7600805	C	T	PNPLA6	c.158C>T	NM_001166111.1	NP_001159583.1:p.(Pro53Leu)	NC_000019.9:g.7600805C>T	VUS	1 lab	7a1c196c11
8:38279390 FGFR1 C>T	8	38279390	38279390	C	T	FGFR1	c.1006G>A	NM_023110.2	NP_075598.2:p.(Ala336Thr)	NC_000008.10:g.38279390C>T	VUS	1 lab	7a1dd0cbd3
9:140001978 MAN1B1 C>A	9	140001978	140001978	C	A	MAN1B1	c.1765-5C>A	NM_016219.5	NP_057303.2:p.?	NC_000009.11:g.140001978C>A	(Likely) benign	1 lab	f8d7cc126f
19:11339692 DOCK6 G>T	19	11339692	11339692	G	T	DOCK6	c.2738C>A	NM_020812.3	NP_065863.2:p.(Ala913Asp)	NC_000019.9:g.11339692G>T	VUS	1 lab	7a228a7b4a
9:138678061 KCNT1 G>A	9	138678061	138678061	G	A	KCNT1	c.3196G>A	NM_020822.2	NP_065873.2:p.(Val1066Met)	NC_000009.11:g.138678061G>A	(Likely) benign	1 lab	7a2350f197
1:17596792 PADI3 AC>A	1	17596792	17596796	AC	A	PADI3	c.721del	NM_016233.2	NP_057317.2:p.(Arg241AlafsTer58)	NC_000001.10:g.17596796del	(Likely) pathogenic	1 lab	7a24189598
19:56029765 SSC5D C>T	19	56029765	56029765	C	T	SSC5D	c.4122C>T	NM_001144950.1	NP_001138422.1:p.(His1374=)	NC_000019.9:g.56029765C>T	(Likely) benign	1 lab	7a264718c4
22:50666463 TUBGCP6 G>A	22	50666463	50666463	G	A	TUBGCP6	c.1291-6C>T	NM_020461.3	NP_065194.2:p.?	NC_000022.10:g.50666463G>A	(Likely) benign	1 lab	7a268cb277
9:141016441 CACNA1B A>G	9	141016441	141016441	A	G	CACNA1B	c.7010A>G	NM_000718.4	NP_000709.1:p.(His2337Arg)	NC_000009.11:g.141016441A>G	(Likely) benign	1 lab	f8dcf89887
X:10180665 CLCN4 C>T	X	10180665	10180665	C	T	CLCN4	c.1548C>T	NM_001830.3	NP_001821.2:p.(Tyr516=)	NC_000023.10:g.10180665C>T	(Likely) benign	1 lab	7a29c6210f
X:50378570 SHROOM4 G>A	X	50378570	50378570	G	A	SHROOM4	c.503C>T	NM_020717.3	NP_065768.2:p.(Ala168Val)	NC_000023.10:g.50378570G>A	(Likely) benign	1 lab	7a2abe0bf6
15:51242055 AP4E1 CAATGAATG>C	15	51242055	51242063	CAATGAATG	C	AP4E1	c.1350_1357del	NM_007347.5	NP_031373.2:p.(Met451CysfsTer12)	NC_000015.9:g.51242056_51242063del	(Likely) pathogenic	1 lab	f8dbc3e19e
7:103138727 RELN TAAAA>T	7	103138727	103138734	TAAAA	T	RELN	c.8668-32_8668-29del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103138731_103138734del	(Likely) benign	1 lab	7a2c66d53a
4:126369631 FAT4 C>T	4	126369631	126369631	C	T	FAT4	c.7466C>T	NM_001291303.1	NP_001278232.1:p.(Ala2489Val)	NC_000004.11:g.126369631C>T	(Likely) benign	1 lab	7a2d516939
15:57535705 TCF12 G>A	15	57535705	57535705	G	A	TCF12	c.897G>A	NM_001322156.1	NP_001309085.1:p.(Pro299=)	NC_000015.9:g.57535705G>A	(Likely) benign	1 lab	7a2d614e0a
7:128049949 IMPDH1 C>T	7	128049949	128049949	C	T	IMPDH1	c.7G>A	NM_000883.3	NP_000874.2:p.(Gly3Arg)	NC_000007.13:g.128049949C>T	VUS	1 lab	7a2de0d9a3
X:47101011 USP11 C>T	X	47101011	47101011	C	T	USP11	c.1221C>T	NM_004651.3	NP_004642.2:p.(Phe407=)	NC_000023.10:g.47101011C>T	(Likely) benign	1 lab	7a30394ba7
9:139840614 C8G C>T	9	139840614	139840614	C	T	C8G	c.424C>T	NM_000606.3	NP_000597.2:p.(Arg142Trp)	NC_000009.11:g.139840614C>T	VUS	1 lab	7a33aff3cd
7:117431430 CTTNBP2 G>A	7	117431430	117431430	G	A	CTTNBP2	c.1820C>T	NM_033427.2	NP_219499.1:p.(Ser607Phe)	NC_000007.13:g.117431430G>A	VUS	1 lab	7a34080a39
6:161137766 PLG G>A	6	161137766	161137766	G	A	PLG	c.758G>A	NM_000301.3	NP_000292.1:p.(Arg253His)	NC_000006.11:g.161137766G>A	VUS	1 lab	7a3623f80e
5:1443236 SLC6A3 G>A	5	1443236	1443236	G	A	SLC6A3	c.77C>T	NM_001044.4	NP_001035.1:p.(Pro26Leu)	NC_000005.9:g.1443236G>A	VUS	1 lab	7a384e15dc
6:56422262 DST T>C	6	56422262	56422262	T	C	DST	c.8138A>G	NM_001144769.2	NP_001138241.1:p.(Glu2713Gly)	NC_000006.11:g.56422262T>C	VUS	1 lab	7a396d521f
12:78362328 NAV3 C>T	12	78362328	78362328	C	T	NAV3	c.517C>T	NM_001024383.2	NP_001019554.1:p.(Leu173=)	NC_000012.11:g.78362328C>T	(Likely) benign	1 lab	7a3ab94f52
X:44171853 EFHC2 A>C	X	44171853	44171853	A	C	EFHC2	c.192T>G	NM_025184.3	NP_079460.2:p.(Asp64Glu)	NC_000023.10:g.44171853A>C	(Likely) benign	1 lab	7a3b85922d
7:82996910 SEMA3E C>A	7	82996910	82996910	C	A	SEMA3E	c.2320G>T	NM_012431.3	NP_036563.1:p.(Asp774Tyr)	NC_000007.13:g.82996910C>A	(Likely) benign	1 lab	7a3cf4b664
X:106358717 RBM41 C>G	X	106358717	106358717	C	G	RBM41	c.493G>C	NM_001324243.1	NP_001311172.1:p.(Glu165Gln)	NC_000023.10:g.106358717C>G	(Likely) benign	1 lab	7a40271875
6:129635854 LAMA2 G>T	6	129635854	129635854	G	T	LAMA2	c.3466G>T	NM_000426.3	NP_000417.2:p.(Asp1156Tyr)	NC_000006.11:g.129635854G>T	VUS	1 lab	7a4033862e
15:51763537 DMXL2 G>A	15	51763537	51763537	G	A	DMXL2	c.7275C>T	NM_001174116.1	NP_001167587.1:p.(Leu2425=)	NC_000015.9:g.51763537G>A	(Likely) benign	1 lab	7a4080798b
12:122064768 ORAI1 G>A	12	122064768	122064768	G	A	ORAI1	c.121G>A	NM_032790.3	NP_116179.2:p.(Gly41Arg)	NC_000012.11:g.122064768G>A	(Likely) benign	1 lab	7a433b1c60
7:117292899 CFTR GTATT>G	7	117292899	117292908	GTATT	G	CFTR	c.3883_3886del	NM_000492.4	NP_000483.3:p.(Ile1295PhefsTer32)	NC_000007.13:g.117292905_117292908del	(Likely) pathogenic	1 lab	7a43ad4f20
13:114321978 GRK1 G>A	13	114321978	114321978	G	A	GRK1	c.277G>A	NM_002929.3	NP_002920.1:p.(Glu93Lys)	NC_000013.10:g.114321978G>A	VUS	1 lab	7a44438c74
1:120462958 NOTCH2 C>T	1	120462958	120462958	C	T	NOTCH2	c.5373G>A	NM_024408.3	NP_077719.2:p.(Gln1791=)	NC_000001.10:g.120462958C>T	(Likely) benign	1 lab	7a470f74f1
15:51750782 DMXL2 G>C	15	51750782	51750782	G	C	DMXL2	c.8056C>G	NM_001174116.1	NP_001167587.1:p.(Gln2686Glu)	NC_000015.9:g.51750782G>C	VUS	1 lab	7a472562aa
17:43009029 KIF18B C>A	17	43009029	43009029	C	A	KIF18B	c.1494G>T	NM_001264573.1	NP_001251503.1:p.(Gln498His)	NC_000017.10:g.43009029C>A	VUS	1 lab	7a478da0ca
9:138660694 KCNT1 G>A	9	138660694	138660694	G	A	KCNT1	c.1421G>A	NM_020822.2	NP_065873.2:p.(Arg474His)	NC_000009.11:g.138660694G>A	(Likely) pathogenic	1 lab	7a47fd3cc1
X:129147261 BCORL1 G>T	X	129147261	129147261	G	T	BCORL1	c.513G>T	NM_001184772.2	NP_001171701.1:p.(Lys171Asn)	NC_000023.10:g.129147261G>T	VUS	1 lab	7a48420e69
16:2160637 PKD1 G>A	16	2160637	2160637	G	A	PKD1	c.4531C>T	NM_001009944.2	NP_001009944.2:p.(Pro1511Ser)	NC_000016.9:g.2160637G>A	(Likely) benign	1 lab	7a49b1661c
6:152718024 SYNE1 A>G	6	152718024	152718024	A	G	SYNE1	c.7442T>C	NM_182961.3	NP_892006.3:p.(Ile2481Thr)	NC_000006.11:g.152718024A>G	VUS	1 lab	7a4d549e32
9:386382 DOCK8 G>T	9	386382	386382	G	T	DOCK8	c.2830G>T	NM_203447.3	NP_982272.2:p.(Asp944Tyr)	NC_000009.11:g.386382G>T	VUS	1 lab	7a4e17a295
20:422618 TBC1D20 C>T	20	422618	422618	C	T	TBC1D20	c.407G>A	NM_144628.3	NP_653229.1:p.(Arg136His)	NC_000020.10:g.422618C>T	VUS	1 lab	7a4e270976
X:2864133 ARSL G>A	X	2864133	2864133	G	A	ARSL	c.972C>T	NM_001282628.1	NP_001269557.1:p.(His324=)	NC_000023.10:g.2864133G>A	(Likely) benign	1 lab	7a51d86d6b
12:88500578 CEP290 T>C	12	88500578	88500578	T	C	CEP290	c.2691A>G	NM_025114.3	NP_079390.3:p.(Ile897Met)	NC_000012.11:g.88500578T>C	(Likely) benign	1 lab	7a527630bd
11:31561287 ELP4 T>C	11	31561287	31561287	T	C	ELP4	c.338T>C	NM_001288726.1	NP_001275655.1:p.(Leu113Ser)	NC_000011.9:g.31561287T>C	(Likely) benign	1 lab	7a559285e2
9:69382277 ANKRD20A4P C>T	9	69382277	69382277	C	T	ANKRD20A4P	c.185C>T	NM_001098805.1	NP_001092275.1:p.(Ala62Val)	NC_000009.11:g.69382277C>T	(Likely) benign	1 lab	7a55f46aa5
5:53813930 SNX18 C>G	5	53813930	53813930	C	G	SNX18	c.148C>G	NM_001145427.1	NP_001138899.1:p.(Leu50Val)	NC_000005.9:g.53813930C>G	VUS	1 lab	7a56027c43
16:4382338 GLIS2 G>A	16	4382338	4382338	G	A	GLIS2	c.57G>A	NM_001318918.1	NP_001305847.1:p.(Ala19=)	NC_000016.9:g.4382338G>A	(Likely) benign	1 lab	7a58124d34
9:135804170 TSC1 TTTAAA>G	9	135804170	135804175	TTTAAA	G	TSC1	c.85_90delinsC	NM_000368.4	NP_000359.1:p.(Phe29ArgfsTer6)	NC_000009.11:g.135804170_135804175delinsG	(Likely) pathogenic	1 lab	7a58c33ee1
1:1653047 CDK11A G>C	1	1653047	1653047	G	C	CDK11A	c.215C>G	NM_001313896.1	NP_001300825.1:p.(Ser72Ter)	NC_000001.10:g.1653047G>C	VUS	1 lab	7a5940202b
19:4558433 SEMA6B G>A	19	4558433	4558433	G	A	SEMA6B	c.37C>T	NM_032108.4	NP_115484.2:p.(Leu13=)	NC_000019.9:g.4558433G>A	(Likely) benign	1 lab	7a5966f7e9
15:49081061 CEP152 G>A	15	49081061	49081061	G	A	CEP152	c.1110C>T	NM_001194998.1	NP_001181927.1:p.(Tyr370=)	NC_000015.9:g.49081061G>A	(Likely) benign	1 lab	7a5ab8e59b
2:71351488 MCEE C>T	2	71351488	71351488	C	T	MCEE	c.226G>A	NM_032601.3	NP_115990.3:p.(Ala76Thr)	NC_000002.11:g.71351488C>T	(Likely) benign	1 lab	7a5af87036
6:66115180 EYS C>T	6	66115180	66115180	C	T	EYS	c.943G>A	NM_001292009.1	NP_001278938.1:p.(Ala315Thr)	NC_000006.11:g.66115180C>T	(Likely) benign	1 lab	7a5bd4aaf6
8:140743337 TRAPPC9 A>C	8	140743337	140743337	A	C	TRAPPC9	c.3708T>G	NM_031466.6	NP_113654.4:p.(Ser1236Arg)	NC_000008.10:g.140743337A>C	VUS	1 lab	7a5ce12a8a
7:35288354 TBX20 G>T	7	35288354	35288354	G	T	TBX20	c.480C>A	NM_001077653.2	NP_001071121.1:p.(Tyr160Ter)	NC_000007.13:g.35288354G>T	(Likely) pathogenic	1 lab	f8eb20ed40
8:7829388 USP17L8 A>G	8	7829388	7829388	A	G	USP17L8	c.1388T>C	NM_001256872.1	NP_001243801.1:p.(Val463Ala)	NC_000008.10:g.7829388A>G	(Likely) benign	1 lab	7a5d83000d
19:44278527 KCNN4 A>ACGGCG	19	44278527	44278535	A	ACGGCG	KCNN4	c.495_499dup	NM_002250.3	NP_002241.1:p.(Val167AlafsTer36)	NC_000019.9:g.44278531_44278535dup	VUS	1 lab	7a5dad64f0
6:33134585 COL11A2 C>T	6	33134585	33134585	C	T	COL11A2	c.4250G>A	NM_080680.2	NP_542411.2:p.(Gly1417Glu)	NC_000006.11:g.33134585C>T	(Likely) pathogenic	1 lab	7a5e185fab
22:32112224 PRR14L T>G	22	32112224	32112224	T	G	PRR14L	c.1601A>C	NM_173566.3	NP_775837.2:p.(Lys534Thr)	NC_000022.10:g.32112224T>G	(Likely) benign	1 lab	7a5f755e8d
1:179348538 AXDND1 A>G	1	179348538	179348538	A	G	AXDND1	c.502A>G	NM_144696.5	NP_653297.3:p.(Thr168Ala)	NC_000001.10:g.179348538A>G	(Likely) benign	1 lab	7a60ac5516
10:134598506 NKX6-2 T>C	10	134598506	134598506	T	C	NKX6-2	c.748A>G	NM_177400.3	NP_796374.2:p.(Lys250Glu)	NC_000010.10:g.134598506T>C	VUS	1 lab	7a62304068
10:81465816 NUTM2B C>T	10	81465816	81465816	C	T	NUTM2B	c.401C>T	NM_001278495.1	NP_001265424.1:p.(Pro134Leu)	NC_000010.10:g.81465816C>T	VUS	1 lab	7a6271555f
7:143270362 CTAGE15 T>C	7	143270362	143270362	T	C	CTAGE15	c.1452T>C	NM_001008747.2	NP_001008747.1:p.(Ala484=)	NC_000007.13:g.143270362T>C	(Likely) benign	1 lab	7a658a9540
7:128490884 FLNC C>T	7	128490884	128490884	C	T	FLNC	c.5426C>T	NM_001458.5	NP_001449.3:p.(Thr1809Met)	NC_000007.13:g.128490884C>T	(Likely) benign	1 lab	f8ebb37a05
1:9787062 PIK3CD G>C	1	9787062	9787062	G	C	PIK3CD	c.3093G>C	NM_005026.3	NP_005017.3:p.(Val1031=)	NC_000001.10:g.9787062G>C	(Likely) benign	1 lab	7a66525e46
19:33167455 RGS9BP G>T	19	33167455	33167455	G	T	RGS9BP	c.286G>T	NM_207391.3	NP_997274.2:p.(Ala96Ser)	NC_000019.9:g.33167455G>T	(Likely) benign	1 lab	f8ed098e08
15:87217591 AGBL1 T>C	15	87217591	87217591	T	C	AGBL1	c.3145T>C	NM_152336.3	NP_689549.3:p.(Cys1049Arg)	NC_000015.9:g.87217591T>C	VUS	1 lab	7a6978748e
9:12708057 TYRP1 T>G	9	12708057	12708057	T	G	TYRP1	c.1322T>G	NM_000550.2	NP_000541.1:p.(Val441Gly)	NC_000009.11:g.12708057T>G	VUS	1 lab	7a6a304c5a
9:137979942 OLFM1 A>C	9	137979942	137979942	A	C	OLFM1	c.107A>C	NM_001282611.1	NP_001269540.1:p.(Lys36Thr)	NC_000009.11:g.137979942A>C	(Likely) benign	1 lab	7a6b015bca
19:9060568 MUC16 G>A	19	9060568	9060568	G	A	MUC16	c.26878C>T	NM_024690.2	NP_078966.2:p.(Pro8960Ser)	NC_000019.9:g.9060568G>A	VUS	1 lab	7a6e2db53d
X:153229604 HCFC1 A>G	X	153229604	153229604	A	G	HCFC1	c.474T>C	NM_005334.2	NP_005325.2:p.(Asp158=)	NC_000023.10:g.153229604A>G	(Likely) benign	1 lab	7a6f215d6c
9:6604686 GLDC A>C	9	6604686	6604686	A	C	GLDC	c.960T>G	NM_000170.2	NP_000161.2:p.(Phe320Leu)	NC_000009.11:g.6604686A>C	(Likely) benign	1 lab	7a6fef08c2
4:90034627 TIGD2 C>T	4	90034627	90034627	C	T	TIGD2	c.502C>T	NM_145715.2	NP_663761.1:p.(Leu168=)	NC_000004.11:g.90034627C>T	(Likely) benign	1 lab	7a7017a70e
2:198460714 RFTN2 C>T	2	198460714	198460714	C	T	RFTN2	c.1233+1G>A	NM_144629.2	NP_653230.2:p.?	NC_000002.11:g.198460714C>T	VUS	1 lab	7a713e4434
11:610193 PHRF1 C>T	11	610193	610193	C	T	PHRF1	c.4265-3C>T	NM_001286581.2	NP_001273510.1:p.?	NC_000011.9:g.610193C>T	(Likely) benign	1 lab	7a714eb54c
X:55039952 ALAS2 G>A	X	55039952	55039952	G	A	ALAS2	c.1528C>T	NM_001037968.3	NP_001033057.1:p.(His510Tyr)	NC_000023.10:g.55039952G>A	(Likely) benign	1 lab	7a71d9b0b8
10:26491947 MYO3A T>C	10	26491947	26491947	T	C	MYO3A	c.4641T>C	NM_017433.5	NP_059129.3:p.(Ser1547=)	NC_000010.10:g.26491947T>C	(Likely) benign	1 lab	7a71ff2483
2:31560538 XDH C>T	2	31560538	31560538	C	T	XDH	c.3920G>A	NM_000379.3	NP_000370.2:p.(Arg1307His)	NC_000002.11:g.31560538C>T	VUS	1 lab	7a722b4d34
21:46876216 COL18A1 C>T	21	46876216	46876216	C	T	COL18A1	c.772C>T	NM_130444.3	NP_569711.2:p.(Arg258Cys)	NC_000021.8:g.46876216C>T	VUS	1 lab	7a724c8d79
11:6646839 DCHS1 C>T	11	6646839	6646839	C	T	DCHS1				NC_000011.9:g.6646839C>T	(Likely) benign	1 lab	7a75ca13ad
21:19651329 TMPRSS15 G>C	21	19651329	19651329	G	C	TMPRSS15	c.2716C>G	NM_002772.2	NP_002763.2:p.(Pro906Ala)	NC_000021.8:g.19651329G>C	(Likely) benign	1 lab	7a7657fc86
1:43205586 CLDN19 A>C	1	43205586	43205586	A	C	CLDN19	c.149T>G	NM_001123395.1	NP_001116867.1:p.(Leu50Arg)	NC_000001.10:g.43205586A>C	VUS	1 lab	7a76699ee7
X:71813027 PHKA1 C>T	X	71813027	71813027	C	T	PHKA1	c.3170G>A	NM_002637.3	NP_002628.2:p.(Arg1057Gln)	NC_000023.10:g.71813027C>T	VUS	1 lab	7a76fcd6c0
1:32742017 LCK G>A	1	32742017	32742017	G	A	LCK	c.711G>A	NM_005356.4	NP_005347.3:p.(Glu237=)	NC_000001.10:g.32742017G>A	(Likely) benign	1 lab	7a79cb7649
19:49657984 HRC T>C	19	49657984	49657984	T	C	HRC	c.511A>G	NM_002152.3	NP_002143.1:p.(Ser171Gly)	NC_000019.9:g.49657984T>C	VUS	1 lab	7a7b981491
3:167402159 PDCD10 T>TA	3	167402159	167402160	T	TA	PDCD10	c.575dup	NM_007217.3	NP_009148.2:p.(Ser193LysfsTer36)	NC_000003.11:g.167402160dup	(Likely) pathogenic	1 lab	7a7cce9ebf
3:186507009 EIF4A2 A>C	3	186507009	186507009	A	C	EIF4A2	c.1175A>C	NM_001967.4	NP_001958.2:p.(Tyr392Ser)	NC_000003.11:g.186507009A>C	VUS	1 lab	7a81331853
X:66937448 AR G>T	X	66937448	66937448	G	T	AR	c.2302G>T	NM_000044.4	NP_000035.2:p.(Asp768Tyr)	NC_000023.10:g.66937448G>T	(Likely) pathogenic	1 lab	7a815c8ef4
5:70813190 BDP1 C>T	5	70813190	70813190	C	T	BDP1	c.4902C>T	NM_018429.2	NP_060899.2:p.(Ser1634=)	NC_000005.9:g.70813190C>T	(Likely) benign	1 lab	7a8187c127
3:38592255 SCN5A C>T	3	38592255	38592255	C	T	SCN5A	c.5608G>A	NM_001099404.1	NP_001092874.1:p.(Ala1870Thr)	NC_000003.11:g.38592255C>T	VUS	1 lab	7a827ba6a8
19:16593461 CALR3 C>T	19	16593461	16593461	C	T	CALR3	c.786+28G>A	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16593461C>T	(Likely) benign	1 lab	7a8323575a
6:152763328 SYNE1 G>A	6	152763328	152763328	G	A	SYNE1	c.3890C>T	NM_182961.3	NP_892006.3:p.(Ala1297Val)	NC_000006.11:g.152763328G>A	(Likely) benign	1 lab	7a83496b59
17:48183461 PDK2 C>T	17	48183461	48183461	C	T	PDK2	c.545C>T	NM_001199900.1	NP_001186829.1:p.(Ala182Val)	NC_000017.10:g.48183461C>T	(Likely) benign	1 lab	7a856a63fb
7:5944806 CCZ1 A>G	7	5944806	5944806	A	G	CCZ1	c.604A>G	NM_015622.5	NP_056437.4:p.(Thr202Ala)	NC_000007.13:g.5944806A>G	VUS	1 lab	7a86307500
19:36322227 NPHS1 T>TCC	19	36322227	36322229	T	TCC	NPHS1	c.3356_3357dup	NM_004646.3	NP_004637.1:p.(Thr1120GlyfsTer24)	NC_000019.9:g.36322228_36322229dup	(Likely) pathogenic	1 lab	7a878aafc7
11:17594793 OTOG G>A	11	17594793	17594793	G	A	OTOG	c.2285G>A	NM_001277269.1	NP_001264198.1:p.(Arg762His)	NC_000011.9:g.17594793G>A	VUS	1 lab	7a88f23871
16:2120636 TSC2 C>CT	16	2120636	2120637	C	CT	TSC2	c.1839+58dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120637dup	(Likely) benign	1 lab	7a8ce73b12
11:94197277 MRE11 A>G	11	94197277	94197277	A	G	MRE11	c.1225+2T>C	NM_001330347.1	NP_001317276.1:p.?	NC_000011.9:g.94197277A>G	(Likely) pathogenic	1 lab	7a8d8ef9b6
17:61886181 DDX42 T>C	17	61886181	61886181	T	C	DDX42	c.1025T>C	NM_007372.3	NP_031398.2:p.(Ile342Thr)	NC_000017.10:g.61886181T>C	VUS	1 lab	7a8fa54f33
13:32972901 BRCA2 T>C	13	32972901	32972901	T	C	BRCA2	c.10251T>C	NM_000059.3	NP_000050.2:p.(Tyr3417=)	NC_000013.10:g.32972901T>C	(Likely) benign	1 lab	7a903f4000
6:152614728 SYNE1 G>A	6	152614728	152614728	G	A	SYNE1	c.18007C>T	NM_182961.3	NP_892006.3:p.(His6003Tyr)	NC_000006.11:g.152614728G>A	VUS	1 lab	7a93a5cba1
9:79986073 VPS13A C>G	9	79986073	79986073	C	G	VPS13A	c.9077+8C>G	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79986073C>G	(Likely) benign	1 lab	7a943ff2e5
6:24658948 TDP2 T>C	6	24658948	24658948	T	C	TDP2	c.266A>G	NM_016614.2	NP_057698.2:p.(Asn89Ser)	NC_000006.11:g.24658948T>C	VUS	1 lab	7a97044412
2:150432974 MMADHC G>C	2	150432974	150432974	G	C	MMADHC	c.455C>G	NM_015702.2	NP_056517.1:p.(Thr152Arg)	NC_000002.11:g.150432974G>C	VUS	1 lab	7a983890d3
19:11356356 DOCK6 C>G	19	11356356	11356356	C	G	DOCK6	c.906G>C	NM_001367830.1	NP_001354759.1:p.(Ser302=)	NC_000019.9:g.11356356C>G	(Likely) benign	1 lab	7a99ed27db
19:12918127 RNASEH2A A>G	19	12918127	12918127	A	G	RNASEH2A	c.307A>G	NM_006397.2	NP_006388.2:p.(Thr103Ala)	NC_000019.9:g.12918127A>G	(Likely) benign	1 lab	7a9b7a9b38
2:27600555 ZNF513 C>T	2	27600555	27600555	C	T	ZNF513	c.1483G>A	NM_144631.5	NP_653232.3:p.(Gly495Ser)	NC_000002.11:g.27600555C>T	VUS	1 lab	7a9dd3c297
22:50671927 TUBGCP6 G>A	22	50671927	50671927	G	A	TUBGCP6	c.934C>T	NM_020461.3	NP_065194.2:p.(Leu312=)	NC_000022.10:g.50671927G>A	(Likely) benign	1 lab	7aa1c9759a
14:77745145 POMT2 C>T	14	77745145	77745145	C	T	POMT2	c.1959G>A	NM_013382.5	NP_037514.2:p.(Pro653=)	NC_000014.8:g.77745145C>T	(Likely) benign	1 lab	7aa2b738b4
X:64955269 MSN G>T	X	64955269	64955269	G	T	MSN	c.936G>T	NM_002444.2	NP_002435.1:p.(Glu312Asp)	NC_000023.10:g.64955269G>T	(Likely) benign	1 lab	7aa32713c4
2:179468761 TTN C>T	2	179468761	179468761	C	T	TTN	c.54653G>A	NM_001267550.2	NP_001254479.2:p.(Arg18218Gln)	NC_000002.11:g.179468761C>T	VUS	1 lab	f8ef4bdca9
18:19371386 MIB1 A>ATCTC	18	19371386	19371387	A	ATCTC	MIB1	c.960_961insTCTC	NM_020774.3	NP_065825.1:p.(Asp321SerfsTer18)	NC_000018.9:g.19371386_19371387insTCTC	(Likely) pathogenic	1 lab	7aa4f75358
14:24573045 PCK2 C>T	14	24573045	24573045	C	T	PCK2	c.1393C>T	NM_001308054.1	NP_001294983.1:p.(Pro465Ser)	NC_000014.8:g.24573045C>T	(Likely) benign	1 lab	7aa575d8e9
2:8890270 KIDINS220 G>A	2	8890270	8890270	G	A	KIDINS220	c.3386C>T	NM_001348738.1	NP_001335667.1:p.(Thr1129Met)	NC_000002.11:g.8890270G>A	VUS	1 lab	7aa6a8077e
10:76781881 KAT6B A>G	10	76781881	76781881	A	G	KAT6B	c.3264A>G	NM_012330.3	NP_036462.2:p.(Glu1088=)	NC_000010.10:g.76781881A>G	(Likely) benign	1 lab	7aa76cc363
14:76045679 FLVCR2 G>A	14	76045679	76045679	G	A	FLVCR2	c.364G>A	NM_017791.2	NP_060261.2:p.(Ala122Thr)	NC_000014.8:g.76045679G>A	(Likely) benign	1 lab	7aabe4c409
8:95677396 ESRP1 A>G	8	95677396	95677396	A	G	ESRP1	c.903A>G	NM_017697.4	NP_060167.2:p.(Thr301=)	NC_000008.10:g.95677396A>G	(Likely) benign	1 lab	7aaded5b44
7:128845241 SMO G>A	7	128845241	128845241	G	A	SMO	c.735G>A	NM_005631.4	NP_005622.1:p.(Thr245=)	NC_000007.13:g.128845241G>A	(Likely) benign	1 lab	7aae178441
6:24651061 TDP2 A>C	6	24651061	24651061	A	C	TDP2	c.1044T>G	NM_016614.2	NP_057698.2:p.(Pro348=)	NC_000006.11:g.24651061A>C	(Likely) benign	1 lab	7aaf128a17
13:102521099 FGF14 A>G	13	102521099	102521099	A	G	FGF14	c.399T>C	NM_175929.2	NP_787125.1:p.(Asn133=)	NC_000013.10:g.102521099A>G	(Likely) benign	1 lab	7aafd6490b
4:119273841 PRSS12 A>C	4	119273841	119273841	A	C	PRSS12	c.35T>G	NM_003619.3	NP_003610.2:p.(Leu12Ter)	NC_000004.11:g.119273841A>C	(Likely) pathogenic	1 lab	7ab0ef490a
2:202073908 CASP10 C>T	2	202073908	202073908	C	T	CASP10	c.1038C>T	NM_032977.3	NP_116759.2:p.(Ala346=)	NC_000002.11:g.202073908C>T	(Likely) benign	1 lab	7ab41ac361
20:61050397 GATA5 G>A	20	61050397	61050397	G	A	GATA5	c.181C>T	NM_080473.4	NP_536721.1:p.(Arg61Cys)	NC_000020.10:g.61050397G>A	VUS	1 lab	7ab4b482b6
10:102748904 TWNK C>T	10	102748904	102748904	C	T	TWNK	c.937C>T	NM_001163812.1	NP_001157284.1:p.(Arg313Trp)	NC_000010.10:g.102748904C>T	VUS	1 lab	7ab5cfa7a9
16:2136231 TSC2 G>A	16	2136231	2136231	G	A	TSC2	c.4700G>A	NM_000548.3	NP_000539.2:p.(Gly1567Asp)	NC_000016.9:g.2136231G>A	VUS	1 lab	7ab7a12bf6
14:89307474 TTC8 A>C	14	89307474	89307474	A	C	TTC8	c.423A>C	NM_144596.3	NP_653197.2:p.(Thr141=)	NC_000014.8:g.89307474A>C	(Likely) benign	1 lab	7ab7ba3d52
12:133148081 FBRSL1 C>T	12	133148081	133148081	C	T	FBRSL1	c.1402C>T	NM_001142641.2	NP_001136113.1:p.(Pro468Ser)	NC_000012.11:g.133148081C>T	VUS	1 lab	7ab9837027
3:15717842 BTD T>A	3	15717842	15717842	T	A	BTD	c.1015+31404T>A	NM_001370752.1	NP_001357681.1:p.?	NC_000003.11:g.15717842T>A	VUS	1 lab	f8f741d3ca
X:102754951 RAB40A G>C	X	102754951	102754951	G	C	RAB40A	c.734C>G	NM_080879.2	NP_543155.2:p.(Thr245Ser)	NC_000023.10:g.102754951G>C	(Likely) benign	1 lab	7abcba04e0
14:63671675 RHOJ G>A	14	63671675	63671675	G	A	RHOJ	c.88G>A	NM_020663.5	NP_065714.1:p.(Gly30Ser)	NC_000014.8:g.63671675G>A	VUS	1 lab	7abdb60f42
17:18024924 MYO15A A>C	17	18024924	18024924	A	C	MYO15A	c.2810A>C	NM_016239.3	NP_057323.3:p.(Gln937Pro)	NC_000017.10:g.18024924A>C	VUS	1 lab	7abfc5db15
12:83359555 TMTC2 C>T	12	83359555	83359555	C	T	TMTC2	c.1901C>T	NM_001320322.1	NP_001307251.1:p.(Ser634Phe)	NC_000012.11:g.83359555C>T	VUS	1 lab	7ac07d6894
2:189871135 COL3A1 G>A	2	189871135	189871135	G	A	COL3A1	c.3158G>A	NM_000090.3	NP_000081.1:p.(Gly1053Asp)	NC_000002.11:g.189871135G>A	(Likely) pathogenic	1 lab	7ac085d824
X:73744252 SLC16A2 G>A	X	73744252	73744252	G	A	SLC16A2	c.634G>A	NM_006517.4	NP_006508.2:p.(Ala212Thr)	NC_000023.10:g.73744252G>A	VUS	1 lab	7ac0d3488e
11:17531364 USH1C G>T	11	17531364	17531364	G	T	USH1C	c.1552C>A	NM_153676.3	NP_710142.1:p.(Pro518Thr)	NC_000011.9:g.17531364G>T	(Likely) benign	1 lab	7ac461c15a
15:42973713 STARD9 C>T	15	42973713	42973713	C	T	STARD9	c.1968C>T	NM_020759.3	NP_065810.2:p.(Tyr656=)	NC_000015.9:g.42973713C>T	(Likely) benign	1 lab	7ac4d2b7e5
10:121436009 BAG3 T>A	10	121436009	121436009	T	A	BAG3	c.943T>A	NM_004281.3	NP_004272.2:p.(Ser315Thr)	NC_000010.10:g.121436009T>A	VUS	1 lab	7ac4dc5fd1
X:53246409 KDM5C T>C	X	53246409	53246409	T	C	KDM5C	c.573A>G	NM_004187.3	NP_004178.2:p.(Lys191=)	NC_000023.10:g.53246409T>C	(Likely) benign	1 lab	7ac706071f
1:9782161 PIK3CD C>T	1	9782161	9782161	C	T	PIK3CD	c.2184C>T	NM_005026.3	NP_005017.3:p.(Leu728=)	NC_000001.10:g.9782161C>T	(Likely) benign	1 lab	7ac706f844
22:32894440 FBXO7 C>T	22	32894440	32894440	C	T	FBXO7	c.1492C>T	NM_012179.3	NP_036311.3:p.(Arg498Ter)	NC_000022.10:g.32894440C>T	(Likely) pathogenic	1 lab	7ac96df819
4:1360128 UVSSA G>A	4	1360128	1360128	G	A	UVSSA	c.1197G>A	NM_020894.3	NP_065945.2:p.(Ala399=)	NC_000004.11:g.1360128G>A	(Likely) benign	1 lab	7accadbfcf
13:79916855 RBM26 C>G	13	79916855	79916855	C	G	RBM26	c.2377G>C	NM_001286631.1	NP_001273560.1:p.(Val793Leu)	NC_000013.10:g.79916855C>G	VUS	1 lab	7acdc060e5
19:50794277 MYH14 A>C	19	50794277	50794277	A	C	MYH14	c.5099A>C	NM_001145809.1	NP_001139281.1:p.(Glu1700Ala)	NC_000019.9:g.50794277A>C	VUS	1 lab	7ace275928
16:72827589 ZFHX3 G>T	16	72827589	72827589	G	T	ZFHX3	c.8992C>A	NM_006885.3	NP_008816.3:p.(Arg2998=)	NC_000016.9:g.72827589G>T	(Likely) benign	1 lab	7ace9a057a
X:153220295 HCFC1 G>A	X	153220295	153220295	G	A	HCFC1	c.3555C>T	NM_005334.2	NP_005325.2:p.(Ala1185=)	NC_000023.10:g.153220295G>A	(Likely) benign	1 lab	7ad2356578
2:179458225 TTN C>T	2	179458225	179458225	C	T	TTN	c.58733-23G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179458225C>T	(Likely) benign	1 lab	7ad2c55522
5:162902527 HMMR A>C	5	162902527	162902527	A	C	HMMR	c.1117A>C	NM_001142556.1	NP_001136028.1:p.(Asn373His)	NC_000005.9:g.162902527A>C	(Likely) benign	1 lab	7ad30de939
16:57778313 KATNB1 C>T	16	57778313	57778313	C	T	KATNB1	c.179C>T	NM_005886.2	NP_005877.2:p.(Thr60Met)	NC_000016.9:g.57778313C>T	VUS	1 lab	7ad31bf8c1
5:112170729 APC G>A	5	112170729	112170729	G	A	APC				NC_000005.9:g.112170729G>A	VUS	1 lab	7ad5ef9dc0
21:47545747 COL6A2 C>A	21	47545747	47545747	C	A	COL6A2	c.2018C>A	NM_058175.2	NP_478055.2:p.(Ala673Asp)	NC_000021.8:g.47545747C>A	VUS	1 lab	7ad783b2eb
6:32808753 PSMB8 G>A	6	32808753	32808753	G	A	PSMB8	c.802C>T	NM_004159.5	NP_004150.1:p.(Arg268Trp)	NC_000006.11:g.32808753G>A	VUS	1 lab	7adb23f2b8
11:6413399 SMPD1 C>T	11	6413399	6413399	C	T	SMPD1	c.143C>T	NM_001318088.1	NP_001305017.1:p.(Pro48Leu)	NC_000011.9:g.6413399C>T	(Likely) benign	1 lab	7adb762e11
20:42252692 IFT52 A>G	20	42252692	42252692	A	G	IFT52	c.395+7A>G	NM_001323578.1	NP_001310507.1:p.?	NC_000020.10:g.42252692A>G	(Likely) benign	1 lab	7adcef837e
20:32441327 CHMP4B C>T	20	32441327	32441327	C	T	CHMP4B	c.636C>T	NM_176812.4	NP_789782.1:p.(Asp212=)	NC_000020.10:g.32441327C>T	(Likely) benign	1 lab	7adf1fb5f9
13:32905199 BRCA2 T>G	13	32905199	32905199	T	G	BRCA2	c.793+32T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905199T>G	(Likely) benign	1 lab	7adfabfc85
X:153642523 TAFAZZIN G>C	X	153642523	153642523	G	C	TAFAZZIN	c.456G>C	NM_000116.3	NP_000107.1:p.(Glu152Asp)	NC_000023.10:g.153642523G>C	VUS	1 lab	7adfc82b57
7:6000451 RSPH10B C>T	7	6000451	6000451	C	T	RSPH10B	c.444G>A	NM_173565.3	NP_775836.3:p.(Thr148=)	NC_000007.13:g.6000451C>T	(Likely) benign	1 lab	7ae164deeb
3:126220153 UROC1 C>T	3	126220153	126220153	C	T	UROC1	c.1053G>A	NM_001165974.1	NP_001159446.1:p.(Gly351=)	NC_000003.11:g.126220153C>T	VUS	1 lab	7ae1c69dec
13:110818646 COL4A1 T>C	13	110818646	110818646	T	C	COL4A1	c.3954A>G	NM_001845.5	NP_001836.3:p.(Pro1318=)	NC_000013.10:g.110818646T>C	(Likely) benign	1 lab	7ae2a18a19
1:7998254 TNFRSF9 T>G	1	7998254	7998254	T	G	TNFRSF9	c.345A>C	NM_001561.5	NP_001552.2:p.(Lys115Asn)	NC_000001.10:g.7998254T>G	(Likely) benign	1 lab	7ae3f332bb
12:124177214 TCTN2 C>T	12	124177214	124177214	C	T	TCTN2	c.1043C>T	NM_024809.4	NP_079085.2:p.(Thr348Ile)	NC_000012.11:g.124177214C>T	VUS	1 lab	7ae495d96c
2:32800401 BIRC6 G>C	2	32800401	32800401	G	C	BIRC6	c.13323G>C	NM_016252.3	NP_057336.3:p.(Lys4441Asn)	NC_000002.11:g.32800401G>C	VUS	1 lab	7ae7c44d5f
9:116053236 PRPF4 C>T	9	116053236	116053236	C	T	PRPF4	c.586C>T	NM_001322267.1	NP_001309196.1:p.(Arg196Trp)	NC_000009.11:g.116053236C>T	VUS	1 lab	7ae8f7f7be
5:169508875 DOCK2 G>T	5	169508875	169508875	G	T	DOCK2	c.5317G>T	NM_004946.3	NP_004937.1:p.(Gly1773Trp)	NC_000005.9:g.169508875G>T	VUS	1 lab	7ae9c6b7d1
2:48026566 MSH6 C>A	2	48026566	48026566	C	A	MSH6	c.1444C>A	NM_000179.3	NP_000170.1:p.(Arg482=)	NC_000002.11:g.48026566C>A	(Likely) benign	1 lab	f90108ff56
11:19213945 CSRP3 G>GAAGAAATCTGC	11	19213945	19213947	G	GAAGAAATCTGC	CSRP3	c.50_51insGCAGATTTCTT	NM_003476.3	NP_003467.1:p.(Tyr18GlnfsTer194)	NC_000011.9:g.19213946_19213947insAGAAATCTGCA	VUS	1 lab	7aeb834d3b
21:46876560 COL18A1 G>A	21	46876560	46876560	G	A	COL18A1	c.1116G>A	NM_130444.3	NP_569711.2:p.(Ala372=)	NC_000021.8:g.46876560G>A	(Likely) benign	1 lab	7aed37873f
13:60240729 DIAPH3 G>A	13	60240729	60240729	G	A	DIAPH3	c.3571C>T	NM_001042517.1	NP_001035982.1:p.(Arg1191Ter)	NC_000013.10:g.60240729G>A	VUS	1 lab	7aeea532f2
X:17746221 NHS G>A	X	17746221	17746221	G	A	NHS	c.3995G>A	NM_001291867.1	NP_001278796.1:p.(Arg1332Lys)	NC_000023.10:g.17746221G>A	VUS	1 lab	7aef887ff7
2:189915389 COL5A2 G>A	2	189915389	189915389	G	A	COL5A2	c.2945C>T	NM_000393.4	NP_000384.2:p.(Pro982Leu)	NC_000002.11:g.189915389G>A	VUS	1 lab	7af064464e
X:154157627 F8 A>C	X	154157627	154157627	A	C	F8	c.4438T>G	NM_000132.3	NP_000123.1:p.(Ser1480Ala)	NC_000023.10:g.154157627A>C	(Likely) benign	1 lab	7af0c4ca58
16:2121618 TSC2 G>C	16	2121618	2121618	G	C	TSC2	c.1946+1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121618G>C	(Likely) pathogenic	1 lab	7af14009c0
8:72967704 TRPA1 T>C	8	72967704	72967704	T	C	TRPA1	c.1496A>G	NM_007332.2	NP_015628.2:p.(Gln499Arg)	NC_000008.10:g.72967704T>C	VUS	1 lab	7af1730262
X:48457285 WDR13 T>C	X	48457285	48457285	T	C	WDR13	c.222T>C	NM_017883.5	NP_060353.2:p.(Ser74=)	NC_000023.10:g.48457285T>C	(Likely) benign	1 lab	7af181a69c
11:68154106 LRP5 C>T	11	68154106	68154106	C	T	LRP5	c.1338C>T	NM_002335.3	NP_002326.2:p.(Asn446=)	NC_000011.9:g.68154106C>T	(Likely) benign	1 lab	7af1f9b621
21:45678420 DNMT3L A>T	21	45678420	45678420	A	T	DNMT3L	c.502T>A	NM_013369.3	NP_037501.2:p.(Tyr168Asn)	NC_000021.8:g.45678420A>T	(Likely) benign	1 lab	7af2d5f97a
16:89371644 ANKRD11 C>T	16	89371644	89371644	C	T	ANKRD11	c.196G>A	NM_001256182.1	NP_001243111.1:p.(Ala66Thr)	NC_000016.9:g.89371644C>T	VUS	1 lab	7af5fc6161
2:149226653 MBD5 T>C	2	149226653	149226653	T	C	MBD5	c.1141T>C	NM_018328.5	NP_060798.2:p.(Phe381Leu)	NC_000002.11:g.149226653T>C	VUS	1 lab	f9020eb17b
X:151092496 MAGEA4 T>C	X	151092496	151092496	T	C	MAGEA4	c.360T>C	NM_002362.4	NP_002353.3:p.(Phe120=)	NC_000023.10:g.151092496T>C	(Likely) benign	1 lab	7af80df441
12:53207615 KRT4 A>C	12	53207615	53207615	A	C	KRT4	c.228T>G	NM_002272.3	NP_002263.3:p.(Gly76=)	NC_000012.11:g.53207615A>C	(Likely) benign	1 lab	7af8384374
5:138160406 CTNNA1 C>T	5	138160406	138160406	C	T	CTNNA1	c.776C>T	NM_001323982.1	NP_001310911.1:p.(Ala259Val)	NC_000005.9:g.138160406C>T	VUS	1 lab	7af95bb47a
8:100128086 VPS13B G>A	8	100128086	100128086	G	A	VPS13B	c.921G>A	NM_017890.4	NP_060360.3:p.(Met307Ile)	NC_000008.10:g.100128086G>A	(Likely) benign	1 lab	7afb1fac0e
22:45221366 ARHGAP8 C>T	22	45221366	45221366	C	T	ARHGAP8	c.582C>T	NM_001017526.1	NP_001017526.1:p.(Tyr194=)	NC_000022.10:g.45221366C>T	(Likely) benign	1 lab	7afb7c71b0
9:70176768 FOXD4L5 AG>A	9	70176768	70176769	AG	A	FOXD4L5	c.1215del	NM_001126334.1	NP_001119806.1:p.(Trp406GlyfsTer21)	NC_000009.11:g.70176769del	(Likely) benign	1 lab	7afc84d3ba
7:151962176 KMT2C T>A	7	151962176	151962176	T	A	KMT2C	c.1131A>T	NM_170606.2	NP_733751.2:p.(Pro377=)	NC_000007.13:g.151962176T>A	(Likely) benign	1 lab	7afca9240d
11:65306588 LTBP3 C>T	11	65306588	65306588	C	T	LTBP3	c.3875G>A	NM_001130144.2	NP_001123616.1:p.(Arg1292His)	NC_000011.9:g.65306588C>T	VUS	1 lab	7afdcf5e82
6:7246866 RREB1 GGCACTGAGGAGA>G	6	7246866	7246884	GGCACTGAGGAGA	G	RREB1	c.4190_4201del	NM_001003699.4	NP_001003699.1:p.(Glu1397_Thr1400del)	NC_000006.11:g.7246873_7246884del	VUS	1 lab	f904b0802a
1:7725152 CAMTA1 G>A	1	7725152	7725152	G	A	CAMTA1	c.2545G>A	NM_015215.3	NP_056030.1:p.(Ala849Thr)	NC_000001.10:g.7725152G>A	(Likely) benign	1 lab	7b029f0365
7:4823366 AP5Z1 C>T	7	4823366	4823366	C	T	AP5Z1	c.558C>T	NM_014855.3	NP_055670.1:p.(Tyr186=)	NC_000007.13:g.4823366C>T	(Likely) benign	1 lab	7b02f08320
15:51773669 DMXL2 G>T	15	51773669	51773669	G	T	DMXL2	c.5634C>A	NM_001174116.1	NP_001167587.1:p.(Asn1878Lys)	NC_000015.9:g.51773669G>T	VUS	1 lab	7b03c6a74c
19:48205256 BICRA G>A	19	48205256	48205256	G	A	BICRA	c.4267G>A	NM_015711.3	NP_056526.3:p.(Glu1423Lys)	NC_000019.9:g.48205256G>A	VUS	1 lab	7b044d9658
5:55178872 IL31RA C>T	5	55178872	55178872	C	T	IL31RA	c.398C>T	NM_001242638.1	NP_001229567.1:p.(Ala133Val)	NC_000005.9:g.55178872C>T	(Likely) benign	1 lab	7b065e67c6
15:62202512 VPS13C T>C	15	62202512	62202512	T	C	VPS13C	c.8716-8A>G	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62202512T>C	(Likely) benign	1 lab	7b06ab90a8
3:124376334 KALRN G>C	3	124376334	124376334	G	C	KALRN	c.5899G>C	NM_001024660.4	NP_001019831.2:p.(Asp1967His)	NC_000003.11:g.124376334G>C	VUS	1 lab	7b07de324d
17:7606798 WRAP53 G>T	17	7606798	7606798	G	T	WRAP53	c.1641G>T	NM_018081.2	NP_060551.2:p.(Leu547=)	NC_000017.10:g.7606798G>T	(Likely) benign	1 lab	7b086161c8
6:33414481 SYNGAP1 CA>C	6	33414481	33414482	CA	C	SYNGAP1	c.3713del	NM_006772.3	NP_006763.2:p.(Gln1238ArgfsTer11)	NC_000006.11:g.33414482del	(Likely) pathogenic	1 lab	7b0988ab8d
6:79787745 PHIP C>A	6	79787745	79787745	C	A	PHIP	c.40+1G>T	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79787745C>A	(Likely) pathogenic	1 lab	f90832936c
7:42012085 GLI3 G>T	7	42012085	42012085	G	T	GLI3	c.1954C>A	NM_000168.5	NP_000159.3:p.(Pro652Thr)	NC_000007.13:g.42012085G>T	VUS	1 lab	7b0b80e343
X:140995676 MAGEC1 C>T	X	140995676	140995676	C	T	MAGEC1	c.2486C>T	NM_005462.4	NP_005453.2:p.(Ser829Phe)	NC_000023.10:g.140995676C>T	(Likely) benign	1 lab	7b0be0aed8
11:74172999 KCNE3 C>CTGG	11	74172999	74173000	C	CTGG	KCNE3	c.-41_-41+1insCCA	NM_005472.4	NP_005463.1:p.?	NC_000011.9:g.74172999_74173000insTGG	(Likely) pathogenic	1 lab	7b0dd68ceb
2:220286282 DES G>A	2	220286282	220286282	G	A	DES	c.1244G>A	NM_001927.4	NP_001918.3:p.(Arg415Gln)	NC_000002.11:g.220286282G>A	(Likely) pathogenic	1 lab	f90c93d5bf
X:15603609 ACE2 T>A	X	15603609	15603609	T	A	ACE2	c.889A>T	NM_021804.2	NP_068576.1:p.(Met297Leu)	NC_000023.10:g.15603609T>A	(Likely) benign	1 lab	7b12178feb
4:47602331 CORIN A>G	4	47602331	47602331	A	G	CORIN	c.2846T>C	NM_006587.3	NP_006578.2:p.(Ile949Thr)	NC_000004.11:g.47602331A>G	VUS	1 lab	7b14ca9775
X:21861429 MBTPS2 T>A	X	21861429	21861429	T	A	MBTPS2	c.217T>A	NM_015884.3	NP_056968.1:p.(Tyr73Asn)	NC_000023.10:g.21861429T>A	(Likely) benign	1 lab	7b17a0f049
5:78340228 DMGDH T>G	5	78340228	78340228	T	G	DMGDH	c.893A>C	NM_013391.3	NP_037523.2:p.(Tyr298Ser)	NC_000005.9:g.78340228T>G	VUS	1 lab	7b18880155
4:183714115 TENM3 C>T	4	183714115	183714115	C	T	TENM3	c.6290C>T	NM_001080477.3	NP_001073946.1:p.(Ser2097Leu)	NC_000004.11:g.183714115C>T	VUS	1 lab	7b19235297
1:202733274 KDM5B C>T	1	202733274	202733274	C	T	KDM5B	c.712-1G>A	NM_006618.5	NP_006609.3:p.?	NC_000001.10:g.202733274C>T	(Likely) pathogenic	1 lab	f90dbf02af
12:124417935 DNAH10 T>C	12	124417935	124417935	T	C	DNAH10	c.13000T>C	NM_207437.3	NP_997320.2:p.(Tyr4334His)	NC_000012.11:g.124417935T>C	VUS	1 lab	7b1e8ca7af
14:88862534 SPATA7 T>A	14	88862534	88862534	T	A	SPATA7	c.225T>A	NM_018418.4	NP_060888.2:p.(Ser75Arg)	NC_000014.8:g.88862534T>A	VUS	1 lab	7b1ef5106d
1:144930746 PDE4DIP T>C	1	144930746	144930746	T	C	PDE4DIP	c.963A>G	NM_001002811.2	NP_001002811.2:p.(Gly321=)	NC_000001.10:g.144930746T>C	(Likely) benign	1 lab	7b1f322dd4
2:149866828 KIF5C C>G	2	149866828	149866828	C	G	KIF5C	c.2730C>G	NM_004522.3	NP_004513.1:p.(Ala910=)	NC_000002.11:g.149866828C>G	(Likely) benign	1 lab	7b1fb72704
13:39454652 FREM2 C>T	13	39454652	39454652	C	T	FREM2	c.9238C>T	NM_207361.5	NP_997244.4:p.(Leu3080=)	NC_000013.10:g.39454652C>T	(Likely) benign	1 lab	7b202d17ec
5:1443167 SLC6A3 TTGGTGAGGG>T	5	1443167	1443179	TTGGTGAGGG	T	SLC6A3	c.137_145del	NM_001044.5	NP_001035.1:p.(Thr46_Thr48del)	NC_000005.9:g.1443171_1443179del	VUS	1 lab	7b20a3abcb
16:1634267 IFT140 G>A	16	1634267	1634267	G	A	IFT140	c.1310C>T	NM_014714.3	NP_055529.2:p.(Ala437Val)	NC_000016.9:g.1634267G>A	(Likely) benign	1 lab	7b26bf4bf9
10:124697359 C10orf88 T>C	10	124697359	124697359	T	C	C10orf88	c.965A>G	NM_024942.4	NP_079218.2:p.(Asp322Gly)	NC_000010.10:g.124697359T>C	(Likely) benign	1 lab	7b2749e59a
7:107600183 LAMB1 T>C	7	107600183	107600183	T	C	LAMB1	c.2411A>G	NM_002291.2	NP_002282.2:p.(Asn804Ser)	NC_000007.13:g.107600183T>C	VUS	1 lab	7b2a5cd825
X:135306986 MAP7D3 C>G	X	135306986	135306986	C	G	MAP7D3	c.2088G>C	NM_001173517.1	NP_001166988.1:p.(Lys696Asn)	NC_000023.10:g.135306986C>G	VUS	1 lab	7b2a75b3c6
19:12541493 ZNF443 T>C	19	12541493	12541493	T	C	ZNF443	c.1493A>G	NM_005815.5	NP_005806.3:p.(His498Arg)	NC_000019.9:g.12541493T>C	VUS	1 lab	7b2c09c007
6:138576754 ARFGEF3 G>A	6	138576754	138576754	G	A	ARFGEF3	c.952G>A	NM_020340.5	NP_065073.3:p.(Val318Met)	NC_000006.11:g.138576754G>A	VUS	1 lab	f91315df56
X:17750339 NHS G>A	X	17750339	17750339	G	A	NHS	c.4711G>A	NM_001291867.1	NP_001278796.1:p.(Glu1571Lys)	NC_000023.10:g.17750339G>A	VUS	1 lab	7b2c353ef1
2:189864569 COL3A1 G>A	2	189864569	189864569	G	A	COL3A1	c.2231G>A	NM_000090.3	NP_000081.1:p.(Gly744Asp)	NC_000002.11:g.189864569G>A	(Likely) pathogenic	1 lab	7b2cbe6255
7:26237017 HNRNPA2B1 G>C	7	26237017	26237017	G	C	HNRNPA2B1	c.218C>G	NM_031243.2	NP_112533.1:p.(Ala73Gly)	NC_000007.13:g.26237017G>C	(Likely) benign	1 lab	7b2e079e9a
10:134628114 CFAP46 C>T	10	134628114	134628114	C	T	CFAP46	c.7252G>A	NM_001200049.3	NP_001186978.2:p.(Val2418Ile)	NC_000010.10:g.134628114C>T	(Likely) benign	1 lab	7b2ecbe1d9
1:165218790 LMX1A C>T	1	165218790	165218790	C	T	LMX1A	c.351G>A	NM_177398.4	NP_796372.1:p.(Leu117=)	NC_000001.10:g.165218790C>T	(Likely) benign	1 lab	7b2fabe2b7
3:111795816 TMPRSS7 C>T	3	111795816	111795816	C	T	TMPRSS7	c.1671C>T	NM_001042575.2	NP_001036040.2:p.(His557=)	NC_000003.11:g.111795816C>T	(Likely) benign	1 lab	7b3030bd64
9:130587638 ENG T>TGC	9	130587638	130587641	T	TGC	ENG	c.690-4_690-3dup	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130587640_130587641dup	(Likely) benign	1 lab	7b308d7c50
X:23956697 CXorf58 G>T	X	23956697	23956697	G	T	CXorf58	c.819G>T	NM_152761.2	NP_689974.2:p.(Arg273=)	NC_000023.10:g.23956697G>T	(Likely) benign	1 lab	7b31478b1b
17:78087127 GAA C>T	17	78087127	78087127	C	T	GAA	c.2151C>T	NM_000152.3	NP_000143.2:p.(His717=)	NC_000017.10:g.78087127C>T	(Likely) benign	1 lab	7b34fbc772
10:23481958 PTF1A G>A	10	23481958	23481958	G	A	PTF1A	c.499G>A	NM_178161.2	NP_835455.1:p.(Ala167Thr)	NC_000010.10:g.23481958G>A	VUS	1 lab	7b3583e0c8
6:24848265 RIPOR2 G>C	6	24848265	24848265	G	C	RIPOR2	c.1065C>G	NM_014722.4	NP_055537.2:p.(Asp355Glu)	NC_000006.11:g.24848265G>C	VUS	1 lab	7b374efa43
1:8418960 RERE G>A	1	8418960	8418960	G	A	RERE	c.3635C>T	NM_012102.4	NP_036234.3:p.(Ala1212Val)	NC_000001.10:g.8418960G>A	(Likely) benign	1 lab	f914fb2f4d
9:130587628 ENG G>A	9	130587628	130587628	G	A	ENG	c.698C>T	NM_000118.3	NP_000109.1:p.(Thr233Met)	NC_000009.11:g.130587628G>A	VUS	1 lab	7b37aa143f
5:14297306 TRIO G>A	5	14297306	14297306	G	A	TRIO	c.1302G>A	NM_007118.3	NP_009049.2:p.(Ala434=)	NC_000005.9:g.14297306G>A	(Likely) benign	1 lab	7b38bc5d11
1:235904936 LYST C>T	1	235904936	235904936	C	T	LYST	c.8152-8G>A	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235904936C>T	(Likely) benign	1 lab	7b38dcd37c
11:66299502 BBS1 C>T	11	66299502	66299502	C	T	BBS1	c.1776C>T	NM_024649.4	NP_078925.3:p.(Ala592=)	NC_000011.9:g.66299502C>T	(Likely) benign	1 lab	7b39e3eeb1
1:52221999 OSBPL9 G>C	1	52221999	52221999	G	C	OSBPL9	c.551G>C	NM_024586.6	NP_078862.4:p.(Ser184Thr)	NC_000001.10:g.52221999G>C	(Likely) benign	1 lab	7b3aadca48
19:11323925 DOCK6 C>G	19	11323925	11323925	C	G	DOCK6	c.4418G>C	NM_020812.4	NP_065863.2:p.(Arg1473Pro)	NC_000019.9:g.11323925C>G	VUS	1 lab	f91513316a
11:67286626 CABP2 C>T	11	67286626	67286626	C	T	CABP2	c.665G>A	NM_001318496.1	NP_001305425.1:p.(Arg222Gln)	NC_000011.9:g.67286626C>T	VUS	1 lab	7b3cee7355
8:41798355 KAT6A G>C	8	41798355	41798355	G	C	KAT6A	c.3039+5C>G	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41798355G>C	(Likely) benign	1 lab	f9153c84e9
10:19464136 MALRD1 G>C	10	19464136	19464136	G	C	MALRD1	c.1831-1G>C	NM_001142308.3	NP_001135780.2:p.?	NC_000010.10:g.19464136G>C	VUS	1 lab	7b3d45f742
2:182403885 CERKL G>A	2	182403885	182403885	G	A	CERKL	c.1550C>T	NM_001030311.2	NP_001025482.1:p.(Ser517Leu)	NC_000002.11:g.182403885G>A	VUS	1 lab	7b3d6b62ed
X:153222122 HCFC1 G>A	X	153222122	153222122	G	A	HCFC1	c.2589C>T	NM_005334.2	NP_005325.2:p.(Ser863=)	NC_000023.10:g.153222122G>A	(Likely) benign	1 lab	7b3e8b2945
15:51837898 DMXL2 G>C	15	51837898	51837898	G	C	DMXL2	c.812C>G	NM_001174116.1	NP_001167587.1:p.(Thr271Ser)	NC_000015.9:g.51837898G>C	VUS	1 lab	7b3e98edee
20:57876690 EDN3 G>A	20	57876690	57876690	G	A	EDN3	c.278G>A	NM_207032.2	NP_996915.1:p.(Arg93Gln)	NC_000020.10:g.57876690G>A	VUS	1 lab	7b41897cdf
11:55371635 OR4C11 G>A	11	55371635	55371635	G	A	OR4C11	c.215C>T	NM_001004700.2	NP_001004700.2:p.(Ser72Leu)	NC_000011.9:g.55371635G>A	(Likely) benign	1 lab	7b42c9f39f
2:44173292 LRPPRC G>A	2	44173292	44173292	G	A	LRPPRC	c.2170C>T	NM_133259.3	NP_573566.2:p.(His724Tyr)	NC_000002.11:g.44173292G>A	VUS	1 lab	7b439d6312
9:131085169 COQ4 G>C	9	131085169	131085169	G	C	COQ4	c.32G>C	NM_016035.4	NP_057119.2:p.(Arg11Pro)	NC_000009.11:g.131085169G>C	(Likely) benign	1 lab	7b462a1125
7:86468708 GRM3 C>T	7	86468708	86468708	C	T	GRM3	c.1878C>T	NM_000840.2	NP_000831.2:p.(Tyr626=)	NC_000007.13:g.86468708C>T	(Likely) benign	1 lab	7b46d0a93e
20:30419842 MYLK2 C>T	20	30419842	30419842	C	T	MYLK2	c.1613C>T	NM_033118.4	NP_149109.1:p.(Pro538Leu)	NC_000020.10:g.30419842C>T	VUS	1 lab	f918d0ad47
17:60042569 MED13 T>C	17	60042569	60042569	T	C	MED13	c.4642A>G	NM_005121.2	NP_005112.2:p.(Ser1548Gly)	NC_000017.10:g.60042569T>C	(Likely) benign	1 lab	7b47068922
8:133880386 TG C>T	8	133880386	133880386	C	T	TG	c.94C>T	NM_003235.4	NP_003226.4:p.(Arg32Cys)	NC_000008.10:g.133880386C>T	VUS	1 lab	7b48d1150b
X:2876430 ARSL T>G	X	2876430	2876430	T	G	ARSL	c.145A>C	NM_001282628.1	NP_001269557.1:p.(Ser49Arg)	NC_000023.10:g.2876430T>G	(Likely) benign	1 lab	7b49a31f1c
7:27239203 HOXA13 C>G	7	27239203	27239203	C	G	HOXA13	c.494G>C	NM_000522.5	NP_000513.2:p.(Gly165Ala)	NC_000007.13:g.27239203C>G	(Likely) benign	1 lab	7b4a0df83c
20:10030776 ANKEF1 T>C	20	10030776	10030776	T	C	ANKEF1	c.1559T>C	NM_022096.6	NP_071379.3:p.(Met520Thr)	NC_000020.10:g.10030776T>C	VUS	1 lab	7b4aea8e1c
8:61778190 CHD7 A>T	8	61778190	61778190	A	T	CHD7				NC_000008.10:g.61778190A>T	(Likely) benign	1 lab	7b4b8154c6
18:56940415 RAX T>C	18	56940415	56940415	T	C	RAX	c.24A>G	NM_013435.2	NP_038463.2:p.(Pro8=)	NC_000018.9:g.56940415T>C	(Likely) benign	1 lab	7b4b9f141d
10:104157107 NFKB2 G>A	10	104157107	104157107	G	A	NFKB2	c.444G>A	NM_001288724.1	NP_001275653.1:p.(Gly148=)	NC_000010.10:g.104157107G>A	(Likely) benign	1 lab	7b4c0712f3
1:197056009 ASPM A>G	1	197056009	197056009	A	G	ASPM	c.10255T>C	NM_018136.4	NP_060606.3:p.(Tyr3419His)	NC_000001.10:g.197056009A>G	(Likely) benign	1 lab	7b4db21725
17:5485391 NLRP1 A>G	17	5485391	5485391	A	G	NLRP1	c.449-9T>C	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5485391A>G	(Likely) benign	1 lab	7b4e4ea03f
5:35867451 IL7R C>T	5	35867451	35867451	C	T	IL7R				NC_000005.9:g.35867451C>T	(Likely) pathogenic	1 lab	7b4fbc0926
2:26686837 OTOF C>T	2	26686837	26686837	C	T	OTOF	c.5098G>A	NM_194248.2	NP_919224.1:p.(Glu1700Lys)	NC_000002.11:g.26686837C>T	VUS	1 lab	7b515340e9
2:85590272 ELMOD3 A>C	2	85590272	85590272	A	C	ELMOD3	c.182A>C	NM_001329791.1	NP_001316720.1:p.(Tyr61Ser)	NC_000002.11:g.85590272A>C	(Likely) benign	1 lab	7b51f9d315
8:87641222 CNGB3 A>C	8	87641222	87641222	A	C	CNGB3	c.1405T>G	NM_019098.4	NP_061971.3:p.(Tyr469Asp)	NC_000008.10:g.87641222A>C	(Likely) pathogenic	1 lab	7b52f2f998
6:83845388 DOP1A G>T	6	83845388	83845388	G	T	DOP1A	c.2894G>T	NM_001199942.1	NP_001186871.1:p.(Ser965Ile)	NC_000006.11:g.83845388G>T	VUS	1 lab	7b53016c7f
3:43618382 ANO10 C>T	3	43618382	43618382	C	T	ANO10	c.964G>A	NM_001204831.2	NP_001191760.1:p.(Val322Met)	NC_000003.11:g.43618382C>T	VUS	1 lab	7b5327888f
7:144015720 OR2A1 C>G	7	144015720	144015720	C	G	OR2A1	c.503C>G	NM_001005287.1	NP_001005287.1:p.(Ser168Cys)	NC_000007.13:g.144015720C>G	(Likely) benign	1 lab	7b535ca0eb
2:186658228 FSIP2 T>G	2	186658228	186658228	T	G	FSIP2	c.6365T>G	NM_173651.3	NP_775922.3:p.(Ile2122Arg)	NC_000002.11:g.186658228T>G	VUS	1 lab	7b54b68042
4:73148867 ADAMTS3 T>C	4	73148867	73148867	T	C	ADAMTS3	c.3604A>G	NM_014243.2	NP_055058.2:p.(Thr1202Ala)	NC_000004.11:g.73148867T>C	(Likely) benign	1 lab	7b56c09b5b
22:40139919 ENTHD1 G>C	22	40139919	40139919	G	C	ENTHD1	c.1589C>G	NM_152512.3	NP_689725.2:p.(Ser530Cys)	NC_000022.10:g.40139919G>C	(Likely) benign	1 lab	7b57a1c5a8
19:50104890 PRR12 A>T	19	50104890	50104890	A	T	PRR12	c.4488A>T	NM_020719.2	NP_065770.1:p.(Pro1496=)	NC_000019.9:g.50104890A>T	(Likely) benign	1 lab	7b5abf49c0
2:85888606 SFTPB G>C	2	85888606	85888606	G	C	SFTPB	c.1172C>G	NM_198843.2	NP_942140.2:p.(Pro391Arg)	NC_000002.11:g.85888606G>C	VUS	1 lab	7b5ac05480
22:24808435 SPECC1L G>A	22	24808435	24808435	G	A	SPECC1L	c.3205-181G>A	NM_015330.4	NP_056145.4:p.?	NC_000022.10:g.24808435G>A	(Likely) benign	1 lab	7b5bb99376
1:32670842 CCDC28B C>A	1	32670842	32670842	C	A	CCDC28B	c.596C>A	NM_024296.4	NP_077272.2:p.(Ala199Asp)	NC_000001.10:g.32670842C>A	(Likely) benign	1 lab	7b5d63c2e3
5:36955688 NIPBL A>G	5	36955688	36955688	A	G	NIPBL	c.179A>G	NM_015384.4	NP_056199.2:p.(Asn60Ser)	NC_000005.9:g.36955688A>G	(Likely) benign	1 lab	7b5d65c27c
19:10225253 P2RY11 A>C	19	10225253	10225253	A	C	P2RY11	c.964A>C	NM_002566.4	NP_002557.2:p.(Met322Leu)	NC_000019.9:g.10225253A>C	VUS	1 lab	7b60fbadb5
X:9900842 SHROOM2 G>A	X	9900842	9900842	G	A	SHROOM2	c.3519G>A	NM_001649.3	NP_001640.1:p.(Ser1173=)	NC_000023.10:g.9900842G>A	(Likely) benign	1 lab	7b61a78297
3:111794172 TMPRSS7 C>A	3	111794172	111794172	C	A	TMPRSS7	c.1410C>A	NM_001042575.2	NP_001036040.2:p.(Cys470Ter)	NC_000003.11:g.111794172C>A	VUS	1 lab	7b649838c9
2:210696240 UNC80 C>T	2	210696240	210696240	C	T	UNC80	c.2700C>T	NM_032504.1	NP_115893.1:p.(Ile900=)	NC_000002.11:g.210696240C>T	(Likely) benign	1 lab	7b66c0fc86
15:65917019 SLC24A1 G>A	15	65917019	65917019	G	A	SLC24A1	c.601G>A	NM_004727.2	NP_004718.1:p.(Val201Met)	NC_000015.9:g.65917019G>A	(Likely) benign	1 lab	7b691e3154
3:49397669 RHOA C>A	3	49397669	49397669	C	A	RHOA	c.555G>T	NM_001664.3	NP_001655.1:p.(Lys185Asn)	NC_000003.11:g.49397669C>A	VUS	1 lab	7b69756555
7:2968246 CARD11 G>T	7	2968246	2968246	G	T	CARD11	c.1740C>A	NM_001324281.1	NP_001311210.1:p.(Asp580Glu)	NC_000007.13:g.2968246G>T	(Likely) benign	1 lab	7b699f3978
7:21788220 DNAH11 C>G	7	21788220	21788220	C	G	DNAH11				NC_000007.13:g.21788220C>G	VUS	1 lab	7b6c7cbf84
15:62276210 VPS13C C>A	15	62276210	62276210	C	A	VPS13C	c.1723G>T	NM_001018088.2	NP_001018098.1:p.(Val575Leu)	NC_000015.9:g.62276210C>A	VUS	1 lab	7b6e27b645
X:34148478 FAM47A C>T	X	34148478	34148478	C	T	FAM47A	c.1918G>A	NM_203408.3	NP_981953.2:p.(Glu640Lys)	NC_000023.10:g.34148478C>T	(Likely) benign	1 lab	7b6e7b9fa1
1:150532636 ADAMTSL4 A>C	1	150532636	150532636	A	C	ADAMTSL4	c.3258A>C	NM_001288608.1	NP_001275537.1:p.(Ala1086=)	NC_000001.10:g.150532636A>C	(Likely) benign	1 lab	7b6f0621fc
21:36164870 RUNX1 C>A	21	36164870	36164870	C	A	RUNX1	c.924G>T	NM_001001890.2	NP_001001890.1:p.(Gln308His)	NC_000021.8:g.36164870C>A	(Likely) benign	1 lab	7b6f908b9b
17:40689564 NAGLU G>C	17	40689564	40689564	G	C	NAGLU	c.531+1G>C	NM_000263.3	NP_000254.2:p.?	NC_000017.10:g.40689564G>C	(Likely) pathogenic	1 lab	7b70f33a12
9:80869862 CEP78 A>G	9	80869862	80869862	A	G	CEP78	c.1362A>G	NM_001330691.2	NP_001317620.1:p.(Ile454Met)	NC_000009.11:g.80869862A>G	(Likely) benign	1 lab	7b720255b7
1:68903965 RPE65 T>G	1	68903965	68903965	T	G	RPE65	c.1033A>C	NM_000329.3	NP_000320.1:p.(Asn345His)	NC_000001.10:g.68903965T>G	VUS	1 lab	f91932ae4e
X:135427015 ADGRG4 G>A	X	135427015	135427015	G	A	ADGRG4	c.1150G>A	NM_153834.3	NP_722576.3:p.(Val384Ile)	NC_000023.10:g.135427015G>A	(Likely) benign	1 lab	7b74e8119f
11:121036091 TECTA TAGTG>T	11	121036091	121036100	TAGTG	T	TECTA	c.5383+5_5383+8del	NM_005422.4	NP_005413.2:p.?	NC_000011.9:g.121036097_121036100del	(Likely) pathogenic	1 lab	7b75a457f4
X:18643364 CDKL5 C>T	X	18643364	18643364	C	T	CDKL5	c.2493C>T	NM_001323289.1	NP_001310218.1:p.(Thr831=)	NC_000023.10:g.18643364C>T	(Likely) benign	1 lab	7b7618812f
1:154574115 ADAR T>A	1	154574115	154574115	T	A	ADAR	c.118A>T	NM_001193495.2	NP_001180424.1:p.(Ile40Phe)	NC_000001.10:g.154574115T>A	(Likely) benign	1 lab	7b77154d34
5:169135206 DOCK2 A>G	5	169135206	169135206	A	G	DOCK2	c.1417A>G	NM_004946.3	NP_004937.1:p.(Met473Val)	NC_000005.9:g.169135206A>G	(Likely) benign	1 lab	7b7840c85b
X:8434044 VCX3B GA>G	X	8434044	8434046	GA	G	VCX3B	c.363del	NM_001001888.4	NP_001001888.3:p.(Glu122AsnfsTer3)	NC_000023.10:g.8434046del	VUS	1 lab	7b793ae6da
9:108363545 FKTN T>C	9	108363545	108363545	T	C	FKTN	c.285T>C	NM_006731.2	NP_006722.2:p.(His95=)	NC_000009.11:g.108363545T>C	(Likely) benign	1 lab	7b79461ffe
16:23417560 COG7 T>C	16	23417560	23417560	T	C	COG7	c.1499A>G	NM_153603.3	NP_705831.1:p.(Tyr500Cys)	NC_000016.9:g.23417560T>C	VUS	1 lab	7b7dd4771e
5:40936437 C7 C>T	5	40936437	40936437	C	T	C7	c.281-3C>T	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40936437C>T	(Likely) benign	1 lab	f91f76bf43
12:132516590 EP400 G>A	12	132516590	132516590	G	A	EP400	c.5847G>A	NM_015409.4	NP_056224.3:p.(Ala1949=)	NC_000012.11:g.132516590G>A	VUS	1 lab	7b7eabd1c0
16:2134301 TSC2 G>T	16	2134301	2134301	G	T	TSC2	c.4078G>T	NM_000548.3	NP_000539.2:p.(Glu1360Ter)	NC_000016.9:g.2134301G>T	(Likely) pathogenic	1 lab	7b7fee20ba
X:112024239 AMOT C>T	X	112024239	112024239	C	T	AMOT	c.2348G>A	NM_001113490.1	NP_001106962.1:p.(Arg783Gln)	NC_000023.10:g.112024239C>T	VUS	1 lab	7b8031b9fa
1:235929544 LYST G>A	1	235929544	235929544	G	A	LYST	c.5956C>T	NM_001301365.1	NP_001288294.1:p.(Arg1986Ter)	NC_000001.10:g.235929544G>A	(Likely) pathogenic	1 lab	7b80933b19
X:117527013 WDR44 A>C	X	117527013	117527013	A	C	WDR44	c.605A>C	NM_019045.4	NP_061918.3:p.(Asp202Ala)	NC_000023.10:g.117527013A>C	(Likely) benign	1 lab	7b82b35a3c
7:107592583 LAMB1 C>G	7	107592583	107592583	C	G	LAMB1	c.3165G>C	NM_002291.2	NP_002282.2:p.(Leu1055Phe)	NC_000007.13:g.107592583C>G	(Likely) benign	1 lab	7b84b6ea1f
X:124455259 TEX13C A>T	X	124455259	124455259	A	T	TEX13C	c.1291A>T	NM_001195272.2	NP_001182201.1:p.(Met431Leu)	NC_000023.10:g.124455259A>T	VUS	1 lab	7b8516e286
11:19955270 NAV2 C>T	11	19955270	19955270	C	T	NAV2	c.1549C>T	NM_001244963.1	NP_001231892.1:p.(Arg517Trp)	NC_000011.9:g.19955270C>T	VUS	1 lab	7b9429f2e4
9:137726930 COL5A1 G>A	9	137726930	137726930	G	A	COL5A1	c.5250G>A	NM_000093.4	NP_000084.3:p.(Val1750=)	NC_000009.11:g.137726930G>A	(Likely) benign	1 lab	7b86dc3e10
6:157520041 ARID1B G>A	6	157520041	157520041	G	A	ARID1B	c.4230G>A	NM_001346813.1	NP_001333742.1:p.(Pro1410=)	NC_000006.11:g.157520041G>A	(Likely) pathogenic	1 lab	7b888ae8d7
7:73459542 ELN C>G	7	73459542	73459542	C	G	ELN	c.470-10C>G	NM_000501.3	NP_000492.2:p.?	NC_000007.13:g.73459542C>G	VUS	1 lab	7b89b0e552
10:102789780 PDZD7 C>T	10	102789780	102789780	C	T	PDZD7	c.197G>A	NM_001195263.1	NP_001182192.1:p.(Arg66His)	NC_000010.10:g.102789780C>T	VUS	1 lab	7b89b6f36a
7:91851257 KRIT1 G>GA	7	91851257	91851262	G	GA	KRIT1	c.1521dup	NM_004912.4	NP_004903.2:p.(Leu508SerfsTer12)	NC_000007.13:g.91851262dup	(Likely) pathogenic	1 lab	7b8a03c962
9:131671142 LRRC8A G>A	9	131671142	131671142	G	A	LRRC8A	c.1699G>A	NM_001127244.1	NP_001120716.1:p.(Val567Met)	NC_000009.11:g.131671142G>A	(Likely) benign	1 lab	7b8a1fe8c4
21:44274691 WDR4 C>T	21	44274691	44274691	C	T	WDR4	c.334G>A	NM_001260477.1	NP_001247406.1:p.(Val112Met)	NC_000021.8:g.44274691C>T	VUS	1 lab	7b8a7e760f
20:60587896 TAF4 G>A	20	60587896	60587896	G	A	TAF4	c.1616C>T	NM_003185.4	NP_003176.2:p.(Thr539Ile)	NC_000020.10:g.60587896G>A	VUS	1 lab	f91fb8ecfd
10:112404353 RBM20 G>C	10	112404353	112404353	G	C	RBM20	c.141G>C	NM_001134363.1	NP_001127835.1:p.(Pro47=)	NC_000010.10:g.112404353G>C	(Likely) benign	1 lab	7b8c9f3aa0
1:46657826 POMGNT1 C>G	1	46657826	46657826	C	G	POMGNT1	c.1483G>C	NM_017739.3	NP_060209.3:p.(Val495Leu)	NC_000001.10:g.46657826C>G	VUS	1 lab	7b8e5e6655
15:48779517 FBN1 G>A	15	48779517	48779517	G	A	FBN1	c.3455C>T	NM_000138.4	NP_000129.3:p.(Ala1152Val)	NC_000015.9:g.48779517G>A	VUS	1 lab	7b912cf292
19:49526433 CGB3 G>A	19	49526433	49526433	G	A	CGB3	c.208C>T	NM_000737.3	NP_000728.1:p.(Pro70Ser)	NC_000019.9:g.49526433G>A	(Likely) benign	1 lab	7b92660fdf
13:60616833 DIAPH3 T>C	13	60616833	60616833	T	C	DIAPH3	c.617A>G	NM_001042517.1	NP_001035982.1:p.(Asn206Ser)	NC_000013.10:g.60616833T>C	VUS	1 lab	7b92856f9a
6:32815762 TAP1 G>A	6	32815762	32815762	G	A	TAP1	c.1854C>T	NM_000593.5	NP_000584.2:p.(Thr618=)	NC_000006.11:g.32815762G>A	(Likely) benign	1 lab	7b96220004
16:839210 CHTF18 C>G	16	839210	839210	C	G	CHTF18	c.287C>G	NM_022092.3	NP_071375.1:p.(Ala96Gly)	NC_000016.9:g.839210C>G	VUS	1 lab	7b963c8e99
2:169985291 LRP2 G>A	2	169985291	169985291	G	A	LRP2	c.13850C>T	NM_004525.3	NP_004516.2:p.(Pro4617Leu)	NC_000002.11:g.169985291G>A	VUS	1 lab	7b991b07fc
X:70387327 NLGN3 C>T	X	70387327	70387327	C	T	NLGN3	c.1380C>T	NM_181303.1	NP_851820.1:p.(Asp460=)	NC_000023.10:g.70387327C>T	(Likely) benign	1 lab	7b994eb576
5:80074610 MSH3 A>G	5	80074610	80074610	A	G	MSH3	c.2390A>G	NM_002439.4	NP_002430.3:p.(Glu797Gly)	NC_000005.9:g.80074610A>G	VUS	1 lab	7b9c3fae21
15:68510972 CLN6 C>T	15	68510972	68510972	C	T	CLN6	c.100G>A	NM_017882.2	NP_060352.1:p.(Ala34Thr)	NC_000015.9:g.68510972C>T	VUS	1 lab	7b9ccba883
12:64062023 DPY19L2 A>C	12	64062023	64062023	A	C	DPY19L2	c.151T>G	NM_173812.5	NP_776173.3:p.(Ser51Ala)	NC_000012.11:g.64062023A>C	(Likely) benign	1 lab	f9210b3beb
19:48901939 GRIN2D G>A	19	48901939	48901939	G	A	GRIN2D	c.290G>A	NM_000836.4	NP_000827.2:p.(Arg97His)	NC_000019.9:g.48901939G>A	VUS	1 lab	f9238b38a8
7:19156617 TWIST1 G>A	7	19156617	19156617	G	A	TWIST1	c.328C>T	NM_000474.3	NP_000465.1:p.(Arg110Trp)	NC_000007.13:g.19156617G>A	VUS	1 lab	7bbdaa15ac
X:106172079 CLDN2 C>T	X	106172079	106172079	C	T	CLDN2	c.621C>T	NM_001171092.1	NP_001164563.1:p.(Ser207=)	NC_000023.10:g.106172079C>T	(Likely) benign	1 lab	7b9f785981
1:1247742 INTS11 G>A	1	1247742	1247742	G	A	INTS11	c.1489C>T	NM_001256456.1	NP_001243385.1:p.(Arg497Trp)	NC_000001.10:g.1247742G>A	VUS	1 lab	7b9fdbefb7
1:1558833 MIB2 A>C	1	1558833	1558833	A	C	MIB2	c.1A>C	NM_001170689.2	NP_001164160.1:p.(Met1?)	NC_000001.10:g.1558833A>C	VUS	1 lab	7ba14c464c
5:140077237 HARS2 G>A	5	140077237	140077237	G	A	HARS2	c.1281G>A	NM_012208.3	NP_036340.1:p.(Lys427=)	NC_000005.9:g.140077237G>A	(Likely) benign	1 lab	7ba30d4266
6:121769032 GJA1 C>A	6	121769032	121769032	C	A	GJA1	c.1039C>A	NM_000165.5	NP_000156.1:p.(Leu347Ile)	NC_000006.11:g.121769032C>A	(Likely) benign	1 lab	7ba3271c75
1:228346066 GJC2 C>T	1	228346066	228346066	C	T	GJC2	c.607C>T	NM_020435.3	NP_065168.2:p.(Arg203Cys)	NC_000001.10:g.228346066C>T	VUS	1 lab	7ba4970ea1
10:90707168 ACTA2 G>A	10	90707168	90707168	G	A	ACTA2	c.130-25C>T	NM_001613.2	NP_001604.1:p.?	NC_000010.10:g.90707168G>A	(Likely) benign	1 lab	7ba55e74da
20:31024454 ASXL1 C>T	20	31024454	31024454	C	T	ASXL1	c.3939C>T	NM_015338.5	NP_056153.2:p.(Thr1313=)	NC_000020.10:g.31024454C>T	(Likely) benign	1 lab	7ba8920bdd
4:39505541 UGDH C>T	4	39505541	39505541	C	T	UGDH	c.1328G>A	NM_003359.4	NP_003350.1:p.(Arg443His)	NC_000004.11:g.39505541C>T	VUS	1 lab	7ba90173e5
16:81303925 BCO1 C>T	16	81303925	81303925	C	T	BCO1	c.1005C>T	NM_017429.2	NP_059125.2:p.(Phe335=)	NC_000016.9:g.81303925C>T	(Likely) benign	1 lab	7baaca37bd
1:22149891 HSPG2 C>T	1	22149891	22149891	C	T	HSPG2	c.13097G>A	NM_001291860.1	NP_001278789.1:p.(Arg4366Gln)	NC_000001.10:g.22149891C>T	VUS	1 lab	7baae8a7f6
X:48546823 WAS G>A	X	48546823	48546823	G	A	WAS	c.912G>A	NM_000377.2	NP_000368.1:p.(Arg304=)	NC_000023.10:g.48546823G>A	(Likely) benign	1 lab	7bab321f4e
11:2189306 TH GGGCGCACCA>G	11	2189306	2189315	GGGCGCACCA	G	TH	c.576+6_576+14del	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2189307_2189315del	(Likely) benign	1 lab	7bac3c8555
3:128622902 ACAD9 C>G	3	128622902	128622902	C	G	ACAD9	c.959-3C>G	NM_014049.4	NP_054768.2:p.?	NC_000003.11:g.128622902C>G	VUS	1 lab	7baf4bea7b
4:17910762 LCORL A>C	4	17910762	17910762	A	C	LCORL	c.637T>G	NM_153686.8	NP_710153.2:p.(Leu213Val)	NC_000004.11:g.17910762A>C	VUS	1 lab	7bb1287544
16:72993580 ZFHX3 G>A	16	72993580	72993580	G	A	ZFHX3	c.465C>T	NM_006885.3	NP_008816.3:p.(Gly155=)	NC_000016.9:g.72993580G>A	(Likely) benign	1 lab	7bb21d5457
12:49580623 TUBA1A G>A	12	49580623	49580623	G	A	TUBA1A	c.4-7C>T	NM_001270399.1	NP_001257328.1:p.?	NC_000012.11:g.49580623G>A	(Likely) benign	1 lab	7bb30e2bf1
10:123278290 FGFR2 G>A	10	123278290	123278290	G	A	FGFR2	c.993C>T	NM_022970.3	NP_075259.4:p.(Thr331=)	NC_000010.10:g.123278290G>A	(Likely) benign	1 lab	7bb49454ef
1:228362650 IBA57 C>T	1	228362650	228362650	C	T	IBA57	c.599C>T	NM_001010867.3	NP_001010867.1:p.(Thr200Ile)	NC_000001.10:g.228362650C>T	(Likely) benign	1 lab	7bb4ac5c4d
12:46123914 ARID2 C>T	12	46123914	46123914	C	T	ARID2	c.180C>T	NM_152641.3	NP_689854.2:p.(Phe60=)	NC_000012.11:g.46123914C>T	(Likely) benign	1 lab	7bb4b2713d
6:146755162 GRM1 G>A	6	146755162	146755162	G	A	GRM1	c.2815G>A	NM_001278064.1	NP_001264993.1:p.(Gly939Ser)	NC_000006.11:g.146755162G>A	VUS	1 lab	7bb537084d
9:135152523 SETX G>A	9	135152523	135152523	G	A	SETX	c.6859C>T	NM_015046.5	NP_055861.3:p.(Arg2287Ter)	NC_000009.11:g.135152523G>A	(Likely) pathogenic	1 lab	7bb6a01463
8:55540418 RP1 G>C	8	55540418	55540418	G	C	RP1	c.3976G>C	NM_006269.1	NP_006260.1:p.(Ala1326Pro)	NC_000008.10:g.55540418G>C	(Likely) benign	1 lab	7bb6c97650
2:215645542 BARD1 C>T	2	215645542	215645542	C	T	BARD1	c.999G>A	NM_001282543.1	NP_001269472.1:p.(Val333=)	NC_000002.11:g.215645542C>T	(Likely) benign	1 lab	7bba051c58
6:24503657 ALDH5A1 C>T	6	24503657	24503657	C	T	ALDH5A1	c.605C>T	NM_170740.1	NP_733936.1:p.(Thr202Ile)	NC_000006.11:g.24503657C>T	VUS	1 lab	7bba270d3c
11:124766846 ROBO4 C>T	11	124766846	124766846	C	T	ROBO4	c.382G>A	NM_019055.5	NP_061928.4:p.(Ala128Thr)	NC_000011.9:g.124766846C>T	VUS	1 lab	7bbab95894
12:109186055 SSH1 T>C	12	109186055	109186055	T	C	SSH1	c.1933A>G	NM_001161331.1	NP_001154803.1:p.(Arg645Gly)	NC_000012.11:g.109186055T>C	(Likely) benign	1 lab	7bbb2f83f2
2:39281777 SOS1 T>C	2	39281777	39281777	T	C	SOS1	c.698A>G	NM_005633.3	NP_005624.2:p.(Asn233Ser)	NC_000002.11:g.39281777T>C	(Likely) benign	1 lab	7bbf313bfb
15:51755610 DMXL2 C>T	15	51755610	51755610	C	T	DMXL2	c.7892G>A	NM_001174116.1	NP_001167587.1:p.(Arg2631Lys)	NC_000015.9:g.51755610C>T	VUS	1 lab	7bc0ef638f
11:66482813 SPTBN2 C>T	11	66482813	66482813	C	T	SPTBN2	c.363G>A	NM_006946.3	NP_008877.1:p.(Lys121=)	NC_000011.9:g.66482813C>T	(Likely) benign	1 lab	7bc103c314
2:54843343 SPTBN1 G>A	2	54843343	54843343	G	A	SPTBN1	c.475-1G>A	NM_003128.2	NP_003119.2:p.?	NC_000002.11:g.54843343G>A	VUS	1 lab	7bc23000ce
13:32912864 BRCA2 C>T	13	32912864	32912864	C	T	BRCA2	c.4372C>T	NM_000059.3	NP_000050.2:p.(His1458Tyr)	NC_000013.10:g.32912864C>T	(Likely) benign	1 lab	7bc568ab71
X:114877707 PLS3 ATGT>A	X	114877707	114877713	ATGT	A	PLS3	c.1074_1076del	NM_005032.7	NP_005023.2:p.(Val359del)	NC_000023.10:g.114877711_114877713del	VUS	1 lab	7bc687ab81
21:46306726 ITGB2 C>T	21	46306726	46306726	C	T	ITGB2	c.2172G>A	NM_000211.3	NP_000202.2:p.(Lys724=)	NC_000021.8:g.46306726C>T	(Likely) benign	1 lab	7bc815919d
2:219294332 VIL1 C>T	2	219294332	219294332	C	T	VIL1	c.783C>T	NM_007127.2	NP_009058.2:p.(Ser261=)	NC_000002.11:g.219294332C>T	(Likely) benign	1 lab	7bc8296974
1:11894592 CLCN6 G>A	1	11894592	11894592	G	A	CLCN6	c.1738G>A	NM_001286.5	NP_001277.2:p.(Val580Met)	NC_000001.10:g.11894592G>A	(Likely) benign	1 lab	f9253e6654
11:95712986 MAML2 T>G	11	95712986	95712986	T	G	MAML2	c.2597A>C	NM_032427.4	NP_115803.1:p.(Asn866Thr)	NC_000011.9:g.95712986T>G	VUS	1 lab	7bc929c80b
2:179419307 TTN T>C	2	179419307	179419307	T	C	TTN	c.88767A>G	NM_001267550.1	NP_001254479.1:p.(Glu29589=)	NC_000002.11:g.179419307T>C	(Likely) benign	1 lab	7bc9faf0ed
5:89949238 ADGRV1 C>T	5	89949238	89949238	C	T	ADGRV1	c.3847C>T	NM_032119.4	NP_115495.3:p.(Leu1283=)	NC_000005.9:g.89949238C>T	(Likely) benign	1 lab	7bca2d31ef
7:117232511 CFTR C>T	7	117232511	117232511	C	T	CFTR	c.2290C>T	NM_000492.3	NP_000483.3:p.(Arg764Ter)	NC_000007.13:g.117232511C>T	(Likely) pathogenic	1 lab	7bcbbe684d
16:84623774 MISSING G>A	16	84623774	84623774	G	A	MISSING				NC_000016.9:g.84623774G>A	(Likely) benign	1 lab	7bccccdbdd
7:107599856 LAMB1 A>G	7	107599856	107599856	A	G	LAMB1	c.2528T>C	NM_002291.2	NP_002282.2:p.(Phe843Ser)	NC_000007.13:g.107599856A>G	VUS	1 lab	7bcd806183
13:31903713 B3GLCT G>T	13	31903713	31903713	G	T	B3GLCT	c.1405G>T	NM_194318.3	NP_919299.3:p.(Asp469Tyr)	NC_000013.10:g.31903713G>T	VUS	1 lab	7bcd999f20
13:52511729 ATP7B G>A	13	52511729	52511729	G	A	ATP7B	c.3786C>T	NM_000053.3	NP_000044.2:p.(Val1262=)	NC_000013.10:g.52511729G>A	(Likely) benign	1 lab	7bcdc94215
15:62302731 VPS13C C>T	15	62302731	62302731	C	T	VPS13C	c.951G>A	NM_001018088.2	NP_001018098.1:p.(Thr317=)	NC_000015.9:g.62302731C>T	(Likely) benign	1 lab	7bcdcb2db3
16:81953132 PLCG2 C>T	16	81953132	81953132	C	T	PLCG2	c.2098C>T	NM_002661.5	NP_002652.2:p.(Arg700Trp)	NC_000016.9:g.81953132C>T	VUS	1 lab	f92981eecc
4:128806961 PLK4 C>T	4	128806961	128806961	C	T	PLK4	c.436C>T	NM_014264.4	NP_055079.3:p.(Arg146Cys)	NC_000004.11:g.128806961C>T	VUS	1 lab	7bd0d67aae
2:179397483 TTN C>T	2	179397483	179397483	C	T	TTN	c.103859G>A	NM_001267550.1	NP_001254479.1:p.(Arg34620His)	NC_000002.11:g.179397483C>T	VUS	1 lab	7bd1b5024d
22:24718307 SPECC1L C>T	22	24718307	24718307	C	T	SPECC1L	c.1359C>T	NM_015330.4	NP_056145.4:p.(Ser453=)	NC_000022.10:g.24718307C>T	(Likely) benign	1 lab	7bd1cc7189
X:153688838 PLXNA3 G>A	X	153688838	153688838	G	A	PLXNA3	c.315G>A	NM_017514.4	NP_059984.3:p.(Ala105=)	NC_000023.10:g.153688838G>A	(Likely) benign	1 lab	7bd238780c
11:124761400 ROBO4 A>G	11	124761400	124761400	A	G	ROBO4	c.1743T>C	NM_019055.5	NP_061928.4:p.(Phe581=)	NC_000011.9:g.124761400A>G	(Likely) benign	1 lab	7bd31cd03b
7:100859814 PLOD3 C>G	7	100859814	100859814	C	G	PLOD3	c.215G>C	NM_001084.4	NP_001075.1:p.(Gly72Ala)	NC_000007.13:g.100859814C>G	VUS	1 lab	7bd45d88c1
4:3526629 LRPAP1 C>T	4	3526629	3526629	C	T	LRPAP1	c.349+5G>A	NM_002337.4	NP_002328.1:p.?	NC_000004.11:g.3526629C>T	VUS	1 lab	7bd486a5f8
X:31645849 DMD G>A	X	31645849	31645849	G	A	DMD	c.8158C>T	NM_004006.3	NP_003997.2:p.(Arg2720Cys)	NC_000023.10:g.31645849G>A	VUS	1 lab	f92b722a2f
12:108959177 ISCU A>G	12	108959177	108959177	A	G	ISCU	c.309A>G	NM_001320042.1	NP_001306971.1:p.(Ser103=)	NC_000012.11:g.108959177A>G	(Likely) benign	1 lab	7bd7142cde
2:74588639 DCTN1 C>T	2	74588639	74588639	C	T	DCTN1	c.3824G>A	NM_004082.4	NP_004073.2:p.(Arg1275His)	NC_000002.11:g.74588639C>T	VUS	1 lab	7bd86fa3e2
11:117864045 IL10RA G>A	11	117864045	117864045	G	A	IL10RA	c.457G>A	NM_001558.3	NP_001549.2:p.(Ala153Thr)	NC_000011.9:g.117864045G>A	(Likely) benign	1 lab	7bdb62e3b1
12:22001087 ABCC9 C>G	12	22001087	22001087	C	G	ABCC9	c.2863G>C	NM_005691.4	NP_005682.2:p.(Glu955Gln)	NC_000012.11:g.22001087C>G	VUS	1 lab	f92d8d369c
9:130707699 EEIG1 C>T	9	130707699	130707699	C	T	EEIG1	c.864G>A	NM_001035254.3	NP_001030331.1:p.(Pro288=)	NC_000009.11:g.130707699C>T	(Likely) benign	1 lab	7bdcf64248
11:70666621 SHANK2 G>A	11	70666621	70666621	G	A	SHANK2	c.1341C>T	NM_012309.4	NP_036441.2:p.(Pro447=)	NC_000011.9:g.70666621G>A	(Likely) benign	1 lab	7bdd5b912a
12:118693311 TAOK3 T>G	12	118693311	118693311	T	G	TAOK3	c.62A>C	NM_016281.3	NP_057365.3:p.(Glu21Ala)	NC_000012.11:g.118693311T>G	VUS	1 lab	7bdd66bbf8
10:53814273 PRKG1 C>T	10	53814273	53814273	C	T	PRKG1	c.792C>T	NM_006258.4	NP_006249.1:p.(Ile264=)	NC_000010.10:g.53814273C>T	(Likely) benign	1 lab	7bddb442a6
20:57899443 EDN3 A>C	20	57899443	57899443	A	C	EDN3	c.646A>C	NM_207034.2	NP_996917.1:p.(Met216Leu)	NC_000020.10:g.57899443A>C	(Likely) benign	1 lab	7bdfe2f7c7
7:120373123 KCND2 C>T	7	120373123	120373123	C	T	KCND2	c.1278+4C>T	NM_012281.3	NP_036413.1:p.?	NC_000007.13:g.120373123C>T	(Likely) benign	1 lab	f92ea63de1
20:401540 RBCK1 A>G	20	401540	401540	A	G	RBCK1	c.656A>G	NM_006462.5	NP_006453.1:p.(Asn219Ser)	NC_000020.10:g.401540A>G	VUS	1 lab	7be4bfe55b
X:100242412 ARL13A A>G	X	100242412	100242412	A	G	ARL13A	c.520A>G	NM_001162491.1	NP_001155963.1:p.(Arg174Gly)	NC_000023.10:g.100242412A>G	(Likely) benign	1 lab	7be68c2b61
1:27876442 AHDC1 C>G	1	27876442	27876442	C	G	AHDC1	c.2185G>C	NM_001029882.3	NP_001025053.1:p.(Gly729Arg)	NC_000001.10:g.27876442C>G	(Likely) benign	1 lab	7be8499e6d
17:29654625 NF1 CT>C	17	29654625	29654626	CT	C	NF1	c.5378del	NM_001042492.3	NP_001035957.1:p.(Leu1793GlnfsTer2)	NC_000017.10:g.29654626del	(Likely) pathogenic	1 lab	7be914e232
10:51887502 WASHC2A G>A	10	51887502	51887502	G	A	WASHC2A	c.2971G>A	NM_001291398.1	NP_001278327.1:p.(Gly991Ser)	NC_000010.10:g.51887502G>A	VUS	1 lab	7be9d6fb48
X:30852183 TAB3 C>T	X	30852183	30852183	C	T	TAB3	c.1975G>A	NM_152787.4	NP_690000.3:p.(Ala659Thr)	NC_000023.10:g.30852183C>T	(Likely) benign	1 lab	7beb97dcc1
17:41247862 BRCA1 C>A	17	41247862	41247862	C	A	BRCA1	c.670+1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41247862C>A	(Likely) pathogenic	1 lab	7bebd91601
11:6519925 DNHD1 C>T	11	6519925	6519925	C	T	DNHD1	c.480C>T	NM_144666.2	NP_653267.2:p.(Pro160=)	NC_000011.9:g.6519925C>T	(Likely) benign	1 lab	7bed5a88f9
9:126133082 CRB2 C>T	9	126133082	126133082	C	T	CRB2	c.1750C>T	NM_173689.6	NP_775960.4:p.(Arg584Cys)	NC_000009.11:g.126133082C>T	VUS	1 lab	7c255c4e45
7:100636836 MUC12 C>T	7	100636836	100636836	C	T	MUC12	c.2992C>T	NM_001164462.1	NP_001157934.1:p.(Pro998Ser)	NC_000007.13:g.100636836C>T	(Likely) benign	1 lab	7bee24c290
6:31778831 HSPA1L ACT>A	6	31778831	31778835	ACT	A	HSPA1L	c.917_918del	NM_005527.4	NP_005518.3:p.(Glu306ValfsTer7)	NC_000006.11:g.31778834_31778835del	VUS	1 lab	f930214162
1:11856325 MTHFR C>T	1	11856325	11856325	C	T	MTHFR	c.841G>A	NM_001330358.1	NP_001317287.1:p.(Val281Met)	NC_000001.10:g.11856325C>T	VUS	1 lab	7beee5f2c8
13:111111198 COL4A2 G>A	13	111111198	111111198	G	A	COL4A2	c.1513G>A	NM_001846.3	NP_001837.2:p.(Ala505Thr)	NC_000013.10:g.111111198G>A	VUS	1 lab	7bf0c6ab09
22:41573907 EP300 C>A	22	41573907	41573907	C	A	EP300	c.6192C>A	NM_001429.3	NP_001420.2:p.(Pro2064=)	NC_000022.10:g.41573907C>A	(Likely) benign	1 lab	7bf17868cc
11:61081782 DDB1 G>C	11	61081782	61081782	G	C	DDB1	c.1587C>G	NM_001923.5	NP_001914.3:p.(Ile529Met)	NC_000011.9:g.61081782G>C	VUS	1 lab	f930c98b67
18:57136827 CCBE1 C>A	18	57136827	57136827	C	A	CCBE1	c.278G>T	NM_133459.4	NP_597716.1:p.(Cys93Phe)	NC_000018.9:g.57136827C>A	VUS	1 lab	7bf621b23f
1:156145436 SEMA4A G>A	1	156145436	156145436	G	A	SEMA4A	c.1682G>A	NM_022367.4	NP_071762.2:p.(Arg561His)	NC_000001.10:g.156145436G>A	(Likely) benign	1 lab	7bfa6d42b9
2:179433502 TTN G>T	2	179433502	179433502	G	T	TTN	c.77357C>A	NM_001267550.1	NP_001254479.1:p.(Ala25786Glu)	NC_000002.11:g.179433502G>T	VUS	1 lab	7bfd34c817
1:33207678 NHSL3 G>T	1	33207678	33207678	G	T	NHSL3	c.123G>T	NM_020888.3	NP_065939.2:p.(Leu41=)	NC_000001.10:g.33207678G>T	(Likely) benign	1 lab	7bfe118c62
20:33575672 MYH7B GTTC>G	20	33575672	33575678	GTTC	G	MYH7B	c.1375_1377del	NM_020884.7	NP_065935.4:p.(Phe459del)	NC_000020.10:g.33575676_33575678del	VUS	1 lab	7bfeb39372
9:117826246 TNC T>C	9	117826246	117826246	T	C	TNC	c.3589A>G	NM_002160.3	NP_002151.2:p.(Ile1197Val)	NC_000009.11:g.117826246T>C	(Likely) benign	1 lab	7bfebc6db5
7:99905617 SPDYE3 G>T	7	99905617	99905617	G	T	SPDYE3	c.106+3G>T	NM_001004351.4	NP_001004351.3:p.?	NC_000007.13:g.99905617G>T	VUS	1 lab	7c00177040
18:6993636 LAMA1 C>T	18	6993636	6993636	C	T	LAMA1	c.5008+4G>A	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6993636C>T	(Likely) benign	1 lab	7c00888193
X:6069097 NLGN4X G>A	X	6069097	6069097	G	A	NLGN4X	c.411C>T	NM_001282145.1	NP_001269074.1:p.(Thr137=)	NC_000023.10:g.6069097G>A	(Likely) benign	1 lab	7c0116afce
3:123018996 ADCY5 G>A	3	123018996	123018996	G	A	ADCY5	c.2871C>T	NM_183357.3	NP_899200.1:p.(Asn957=)	NC_000003.11:g.123018996G>A	(Likely) benign	1 lab	f930db7796
2:88892813 EIF2AK3 G>A	2	88892813	88892813	G	A	EIF2AK3	c.744C>T	NM_004836.6	NP_004827.4:p.(Val248=)	NC_000002.11:g.88892813G>A	(Likely) benign	1 lab	7c04ecb456
X:47444706 TIMP1 C>T	X	47444706	47444706	C	T	TIMP1	c.304C>T	NM_003254.2	NP_003245.1:p.(Arg102Cys)	NC_000023.10:g.47444706C>T	VUS	1 lab	7c076d4811
2:136567166 LCT C>T	2	136567166	136567166	C	T	LCT	c.2751G>A	NM_002299.2	NP_002290.2:p.(Gln917=)	NC_000002.11:g.136567166C>T	(Likely) benign	1 lab	7c09094c29
17:6364711 PITPNM3 C>T	17	6364711	6364711	C	T	PITPNM3	c.2472G>A	NM_031220.3	NP_112497.2:p.(Leu824=)	NC_000017.10:g.6364711C>T	(Likely) benign	1 lab	7c0a2e8818
9:107547731 ABCA1 G>T	9	107547731	107547731	G	T	ABCA1	c.6591C>A	NM_005502.3	NP_005493.2:p.(Ser2197Arg)	NC_000009.11:g.107547731G>T	(Likely) benign	1 lab	7c0a60a41e
1:1425719 ATAD3B G>C	1	1425719	1425719	G	C	ATAD3B	c.1282G>C	NM_001317238.1	NP_001304167.1:p.(Asp428His)	NC_000001.10:g.1425719G>C	(Likely) benign	1 lab	7c0b347ae1
3:186256493 CRYGS C>G	3	186256493	186256493	C	G	CRYGS	c.529G>C	NM_017541.3	NP_060011.1:p.(Val177Leu)	NC_000003.11:g.186256493C>G	(Likely) benign	1 lab	7c0dfa3142
16:2137910 TSC2 A>C	16	2137910	2137910	A	C	TSC2	c.5036A>C	NM_000548.5	NP_000539.2:p.(Glu1679Ala)	NC_000016.9:g.2137910A>C	VUS	1 lab	f933015085
2:1926587 MYT1L G>A	2	1926587	1926587	G	A	MYT1L	c.954C>T	NM_001329851.1	NP_001316780.1:p.(Ser318=)	NC_000002.11:g.1926587G>A	(Likely) benign	1 lab	7c1046f182
6:160481602 IGF2R C>T	6	160481602	160481602	C	T	IGF2R	c.3115C>T	NM_000876.3	NP_000867.2:p.(Arg1039Cys)	NC_000006.11:g.160481602C>T	VUS	1 lab	7c112c7c49
1:39784292 MACF1 G>C	1	39784292	39784292	G	C	MACF1	c.3960+5G>C	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39784292G>C	(Likely) benign	1 lab	f935238aee
22:36691717 MYH9 G>A	22	36691717	36691717	G	A	MYH9	c.3319C>T	NM_002473.5	NP_002464.1:p.(Arg1107Trp)	NC_000022.10:g.36691717G>A	VUS	1 lab	7c13edf6df
10:55780079 PCDH15 G>A	10	55780079	55780079	G	A	PCDH15	c.2624C>T	NM_001354429.1	NP_001341358.1:p.(Ser875Leu)	NC_000010.10:g.55780079G>A	(Likely) benign	1 lab	7c13fc3e96
X:122758526 THOC2 G>T	X	122758526	122758526	G	T	THOC2	c.3058-6C>A	NM_001081550.1	NP_001075019.1:p.?	NC_000023.10:g.122758526G>T	(Likely) benign	1 lab	7c14424f92
11:67378978 NDUFV1 G>A	11	67378978	67378978	G	A	NDUFV1	c.1018G>A	NM_007103.3	NP_009034.2:p.(Asp340Asn)	NC_000011.9:g.67378978G>A	VUS	1 lab	7c14da7041
22:51117826 MISSING A>G	22	51117826	51117826	A	G	MISSING				NC_000022.10:g.51117826A>G	(Likely) benign	1 lab	7f2b948fa9
17:29645473 NF1 C>T	17	29645473	29645473	C	T	NF1	c.4773-7365C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29645473C>T	(Likely) benign	1 lab	f9392d1517
X:153593256 FLNA C>T	X	153593256	153593256	C	T	FLNA	c.1761G>A	NM_001110556.2	NP_001104026.1:p.(Glu587=)	NC_000023.10:g.153593256C>T	(Likely) benign	1 lab	7c196c2b01
14:95569966 DICER1 G>A	14	95569966	95569966	G	A	DICER1	c.3767C>T	NM_030621.4	NP_085124.2:p.(Pro1256Leu)	NC_000014.8:g.95569966G>A	(Likely) benign	1 lab	7c1a7e4ad3
1:152279935 FLG G>T	1	152279935	152279935	G	T	FLG	c.7427C>A	NM_002016.1	NP_002007.1:p.(Ser2476Tyr)	NC_000001.10:g.152279935G>T	VUS	1 lab	7c1bbb5108
16:2165571 PKD1 C>G	16	2165571	2165571	C	G	PKD1	c.1905G>C	NM_001009944.2	NP_001009944.2:p.(Gln635His)	NC_000016.9:g.2165571C>G	(Likely) benign	1 lab	7c1c500529
11:67219806 GPR152 G>T	11	67219806	67219806	G	T	GPR152	c.390C>A	NM_206997.1	NP_996880.1:p.(Cys130Ter)	NC_000011.9:g.67219806G>T	VUS	1 lab	7c1cc1b74c
2:203164983 NOP58 G>C	2	203164983	203164983	G	C	NOP58	c.1295G>C	NM_015934.5	NP_057018.1:p.(Gly432Ala)	NC_000002.11:g.203164983G>C	(Likely) benign	1 lab	7c1e5a5cac
11:6648703 DCHS1 G>T	11	6648703	6648703	G	T	DCHS1				NC_000011.9:g.6648703G>T	VUS	1 lab	7c21e1cc10
2:182521543 CERKL C>T	2	182521543	182521543	C	T	CERKL	c.191G>A	NM_001030311.2	NP_001025482.1:p.(Ser64Asn)	NC_000002.11:g.182521543C>T	VUS	1 lab	7c22a3ae53
14:94849198 SERPINA1 GT>G	14	94849198	94849199	GT	G	SERPINA1	c.376del	NM_000295.5	NP_000286.3:p.(Thr126ProfsTer11)	NC_000014.8:g.94849199del	(Likely) pathogenic	1 lab	7c22a4f05c
2:233612385 GIGYF2 G>A	2	233612385	233612385	G	A	GIGYF2	c.102G>A	NM_001103147.1	NP_001096617.1:p.(Pro34=)	NC_000002.11:g.233612385G>A	(Likely) benign	1 lab	7c22a9c9e9
19:45917272 ERCC1 G>A	19	45917272	45917272	G	A	ERCC1	c.723C>T	NM_001983.3	NP_001974.1:p.(Thr241=)	NC_000019.9:g.45917272G>A	(Likely) benign	1 lab	7c230a0f6b
10:13151269 OPTN C>T	10	13151269	13151269	C	T	OPTN	c.147C>T	NM_001008211.1	NP_001008212.1:p.(Thr49=)	NC_000010.10:g.13151269C>T	(Likely) benign	1 lab	7c253aa1df
2:152534476 NEB A>G	2	152534476	152534476	A	G	NEB	c.3481T>C	NM_001271208.1	NP_001258137.1:p.(Tyr1161His)	NC_000002.11:g.152534476A>G	VUS	1 lab	7c2616424e
6:157469853 ARID1B C>T	6	157469853	157469853	C	T	ARID1B	c.2647C>T	NM_020732.3	NP_065783.3:p.(His883Tyr)	NC_000006.11:g.157469853C>T	VUS	1 lab	7c286f5b9f
3:56658614 MISSING G>A	3	56658614	56658614	G	A	MISSING				NC_000003.11:g.56658614G>A	VUS	1 lab	7c724c952b
6:146978007 ADGB T>C	6	146978007	146978007	T	C	ADGB	c.503T>C	NM_024694.4	NP_078970.3:p.(Leu168Pro)	NC_000006.11:g.146978007T>C	(Likely) benign	1 lab	7c28a03876
2:152717249 CACNB4 G>A	2	152717249	152717249	G	A	CACNB4	c.742C>T	NM_001005747.4	NP_001005747.1:p.(Arg248Cys)	NC_000002.11:g.152717249G>A	VUS	1 lab	f93bb1e0ff
9:135801136 TSC1 T>TA	9	135801136	135801140	T	TA	TSC1	c.211-11dup	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135801140dup	(Likely) benign	1 lab	7c2931f231
X:153780204 IKBKG C>T	X	153780204	153780204	C	T	IKBKG	c.191C>T	NM_001099856.4	NP_001093326.2:p.(Pro64Leu)	NC_000023.10:g.153780204C>T	(Likely) benign	1 lab	7c29d5030c
16:51173858 SALL1 T>C	16	51173858	51173858	T	C	SALL1	c.2275A>G	NM_002968.2	NP_002959.2:p.(Met759Val)	NC_000016.9:g.51173858T>C	VUS	1 lab	7c2bbb3666
2:233390097 PRSS56 G>T	2	233390097	233390097	G	T	PRSS56	c.1693G>T	NM_001195129.1	NP_001182058.1:p.(Ala565Ser)	NC_000002.11:g.233390097G>T	VUS	1 lab	7c2bd371c3
1:12202450 TNFRSF8 G>A	1	12202450	12202450	G	A	TNFRSF8	c.1650G>A	NM_001243.4	NP_001234.3:p.(Glu550=)	NC_000001.10:g.12202450G>A	(Likely) benign	1 lab	7c2be20678
18:19345906 MIB1 T>C	18	19345906	19345906	T	C	MIB1	c.401+2T>C	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19345906T>C	VUS	1 lab	7c2be7b810
14:89312942 TTC8 A>G	14	89312942	89312942	A	G	TTC8	c.595A>G	NM_001288781.1	NP_001275710.1:p.(Ile199Val)	NC_000014.8:g.89312942A>G	(Likely) benign	1 lab	7c2bf8936a
19:38795068 C19orf33 C>T	19	38795068	38795068	C	T	C19orf33	c.76C>T	NM_001317801.1	NP_001304730.1:p.(Pro26Ser)	NC_000019.9:g.38795068C>T	VUS	1 lab	7c2bffa3a3
16:2153594 PKD1 C>T	16	2153594	2153594	C	T	PKD1	c.8464G>A	NM_001009944.2	NP_001009944.2:p.(Val2822Met)	NC_000016.9:g.2153594C>T	VUS	1 lab	7c2c5e79a5
20:62326187 RTEL1 G>A	20	62326187	62326187	G	A	RTEL1	c.3203G>A	NM_001283009.1	NP_001269938.1:p.(Arg1068His)	NC_000020.10:g.62326187G>A	(Likely) benign	1 lab	7c2c6c3549
5:171789871 SH3PXD2B C>A	5	171789871	171789871	C	A	SH3PXD2B	c.430G>T	NM_001017995.2	NP_001017995.1:p.(Gly144Cys)	NC_000005.9:g.171789871C>A	VUS	1 lab	7c2ccc5ffc
X:69502685 RAB41 A>G	X	69502685	69502685	A	G	RAB41	c.217A>G	NM_001363807.1	NP_001350736.1:p.(Met73Val)	NC_000023.10:g.69502685A>G	VUS	1 lab	7c2d8420f0
22:26176055 MYO18B C>T	22	26176055	26176055	C	T	MYO18B	c.2101C>T	NM_001318245.1	NP_001305174.1:p.(Arg701Trp)	NC_000022.10:g.26176055C>T	VUS	1 lab	7c2dcc8518
13:103701648 SLC10A2 A>G	13	103701648	103701648	A	G	SLC10A2	c.910T>C	NM_000452.2	NP_000443.1:p.(Phe304Leu)	NC_000013.10:g.103701648A>G	(Likely) benign	1 lab	7c2e76d77d
2:173420955 PDK1 G>T	2	173420955	173420955	G	T	PDK1	c.77G>T	NM_001278549.1	NP_001265478.1:p.(Arg26Leu)	NC_000002.11:g.173420955G>T	(Likely) benign	1 lab	7c2ed8d62c
19:1046944 ABCA7 C>G	19	1046944	1046944	C	G	ABCA7	c.1766C>G	NM_019112.3	NP_061985.2:p.(Ala589Gly)	NC_000019.9:g.1046944C>G	(Likely) benign	1 lab	7c3148834e
18:44114308 LOXHD1 G>A	18	44114308	44114308	G	A	LOXHD1	c.4202C>T	NM_144612.6	NP_653213.6:p.(Pro1401Leu)	NC_000018.9:g.44114308G>A	VUS	1 lab	7c35a2f86b
X:153217341 HCFC1 G>T	X	153217341	153217341	G	T	HCFC1	c.5211C>A	NM_005334.2	NP_005325.2:p.(Ala1737=)	NC_000023.10:g.153217341G>T	(Likely) benign	1 lab	7c38032861
11:121030956 TECTA A>G	11	121030956	121030956	A	G	TECTA	c.4802A>G	NM_005422.2	NP_005413.2:p.(Asn1601Ser)	NC_000011.9:g.121030956A>G	VUS	1 lab	7c3b70a10e
X:66766605 AR G>GT	X	66766605	66766606	G	GT	AR	c.1616+2dup	NM_000044.4	NP_000035.2:p.?	NC_000023.10:g.66766606dup	(Likely) pathogenic	1 lab	7c405b3211
5:89985755 ADGRV1 A>G	5	89985755	89985755	A	G	ADGRV1	c.6568A>G	NM_032119.4	NP_115495.3:p.(Ile2190Val)	NC_000005.9:g.89985755A>G	VUS	1 lab	7c455096de
16:89348596 ANKRD11 C>T	16	89348596	89348596	C	T	ANKRD11	c.4354G>A	NM_001256182.1	NP_001243111.1:p.(Ala1452Thr)	NC_000016.9:g.89348596C>T	(Likely) benign	1 lab	7c45804d49
2:63631740 WDPCP G>C	2	63631740	63631740	G	C	WDPCP	c.806C>G	NM_001354044.1	NP_001340973.1:p.(Thr269Ser)	NC_000002.11:g.63631740G>C	(Likely) benign	1 lab	7c48e389e1
16:2133818 TSC2 G>A	16	2133818	2133818	G	A	TSC2	c.4005+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2133818G>A	(Likely) pathogenic	1 lab	7c4a0f2d73
15:90173640 KIF7 G>A	15	90173640	90173640	G	A	KIF7	c.3196C>T	NM_198525.2	NP_940927.2:p.(Arg1066Cys)	NC_000015.9:g.90173640G>A	VUS	1 lab	7c4a386136
9:139407526 NOTCH1 G>C	9	139407526	139407526	G	C	NOTCH1	c.2414C>G	NM_017617.5	NP_060087.3:p.(Thr805Arg)	NC_000009.11:g.139407526G>C	VUS	1 lab	7c4a5e6350
2:220025436 NHEJ1 A>G	2	220025436	220025436	A	G	NHEJ1	c.-1+6T>C	NM_024782.2	NP_079058.1:p.?	NC_000002.11:g.220025436A>G	VUS	1 lab	7c4de36d2f
12:6105192 VWF G>A	12	6105192	6105192	G	A	VWF	c.6039C>T	NM_000552.3	NP_000543.2:p.(Ser2013=)	NC_000012.11:g.6105192G>A	(Likely) benign	1 lab	7c4e7a90bf
15:31196871 FAN1 T>C	15	31196871	31196871	T	C	FAN1	c.5T>C	NM_014967.4	NP_055782.3:p.(Met2Thr)	NC_000015.9:g.31196871T>C	(Likely) benign	1 lab	7c4e9f160e
15:51250991 AP4E1 G>GGTAA	15	51250991	51250996	G	GGTAA	AP4E1	c.1626_1626+1insGTAA	NM_001252127.1	NP_001239056.1:p.?	NC_000015.9:g.51250993_51250996dup	VUS	1 lab	7c501b546f
9:36840607 PAX5 C>T	9	36840607	36840607	C	T	PAX5	c.1126G>A	NM_016734.2	NP_057953.1:p.(Ala376Thr)	NC_000009.11:g.36840607C>T	VUS	1 lab	7c50bd125d
7:103017288 SLC26A5 C>T	7	103017288	103017288	C	T	SLC26A5	c.2008G>A	NM_198999.2	NP_945350.1:p.(Val670Ile)	NC_000007.13:g.103017288C>T	VUS	1 lab	7c515ed059
14:102912148 TECPR2 G>C	14	102912148	102912148	G	C	TECPR2	c.2939G>C	NM_014844.4	NP_055659.2:p.(Arg980Thr)	NC_000014.8:g.102912148G>C	(Likely) benign	1 lab	7c519083e7
16:2120580 TSC2 G>T	16	2120580	2120580	G	T	TSC2	c.1839+1G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120580G>T	(Likely) pathogenic	1 lab	83d55fd764
11:124861380 CCDC15 C>G	11	124861380	124861380	C	G	CCDC15	c.1932C>G	NM_025004.2	NP_079280.2:p.(Tyr644Ter)	NC_000011.9:g.124861380C>G	VUS	1 lab	7c5384efc2
7:107596043 LAMB1 A>G	7	107596043	107596043	A	G	LAMB1	c.2723T>C	NM_002291.2	NP_002282.2:p.(Ile908Thr)	NC_000007.13:g.107596043A>G	VUS	1 lab	7c53e628e2
1:17256382 CROCC G>A	1	17256382	17256382	G	A	CROCC	c.393G>A	NM_014675.5	NP_055490.4:p.(Thr131=)	NC_000001.10:g.17256382G>A	(Likely) benign	1 lab	7c53fe7f8c
20:50048926 NFATC2 G>C	20	50048926	50048926	G	C	NFATC2	c.2400C>G	NM_012340.5	NP_036472.2:p.(Pro800=)	NC_000020.10:g.50048926G>C	(Likely) benign	1 lab	7c5400cf5c
6:167549868 CCR6 G>A	6	167549868	167549868	G	A	CCR6	c.150G>A	NM_031409.3	NP_113597.2:p.(Pro50=)	NC_000006.11:g.167549868G>A	(Likely) benign	1 lab	7c54de8e45
9:96859692 PTPDC1 A>T	9	96859692	96859692	A	T	PTPDC1	c.682A>T	NM_177995.2	NP_818931.1:p.(Ile228Leu)	NC_000009.11:g.96859692A>T	VUS	1 lab	7c559edeee
16:30995266 SETD1A C>T	16	30995266	30995266	C	T	SETD1A	c.5046C>T	NM_014712.2	NP_055527.1:p.(Tyr1682=)	NC_000016.9:g.30995266C>T	(Likely) benign	1 lab	7c57fab6e0
3:52281019 PPM1M C>T	3	52281019	52281019	C	T	PPM1M	c.372C>T	NM_144641.4	NP_653242.3:p.(Phe124=)	NC_000003.11:g.52281019C>T	(Likely) benign	1 lab	7c5aaa672b
5:150942905 FAT2 A>G	5	150942905	150942905	A	G	FAT2	c.3555T>C	NM_001447.2	NP_001438.1:p.(Phe1185=)	NC_000005.9:g.150942905A>G	(Likely) benign	1 lab	7c5bf93d8e
X:37029131 FAM47C A>G	X	37029131	37029131	A	G	FAM47C	c.2648A>G	NM_001013736.2	NP_001013758.1:p.(Gln883Arg)	NC_000023.10:g.37029131A>G	VUS	1 lab	7c5c0a1e38
22:35789564 HMOX1 A>G	22	35789564	35789564	A	G	HMOX1	c.840A>G	NM_002133.2	NP_002124.1:p.(Thr280=)	NC_000022.10:g.35789564A>G	(Likely) benign	1 lab	7c5c74b717
7:4277300 SDK1 A>G	7	4277300	4277300	A	G	SDK1	c.6014A>G	NM_152744.3	NP_689957.3:p.(Tyr2005Cys)	NC_000007.13:g.4277300A>G	VUS	1 lab	7c5c74c628
14:105399263 PLD4 G>T	14	105399263	105399263	G	T	PLD4	c.1504G>T	NM_001308174.1	NP_001295103.1:p.(Gly502Ter)	NC_000014.8:g.105399263G>T	VUS	1 lab	7c5d908e98
10:73569619 CDH23 C>T	10	73569619	73569619	C	T	CDH23	c.8765C>T	NM_022124.5	NP_071407.4:p.(Ala2922Val)	NC_000010.10:g.73569619C>T	(Likely) benign	1 lab	7c5da42907
11:1260184 MUC5B G>A	11	1260184	1260184	G	A	MUC5B	c.3381G>A	NM_002458.2	NP_002449.2:p.(Thr1127=)	NC_000011.9:g.1260184G>A	(Likely) benign	1 lab	7c5eb92baf
22:38122497 TRIOBP G>GGGCAAGA	22	38122497	38122505	G	GGGCAAGA	TRIOBP	c.3936_3942dup	NM_001039141.2	NP_001034230.1:p.(Arg1315AlafsTer68)	NC_000022.10:g.38122499_38122505dup	(Likely) pathogenic	1 lab	7c63e015d9
2:211523339 CPS1 G>A	2	211523339	211523339	G	A	CPS1	c.3683G>A	NM_001875.4	NP_001866.2:p.(Arg1228Gln)	NC_000002.11:g.211523339G>A	VUS	1 lab	7c659e923d
14:91826004 CCDC88C C>T	14	91826004	91826004	C	T	CCDC88C	c.322G>A	NM_001080414.3	NP_001073883.2:p.(Gly108Ser)	NC_000014.8:g.91826004C>T	VUS	1 lab	7c65a4a750
22:24143275 SMARCB1 A>G	22	24143275	24143275	A	G	SMARCB1	c.500+7A>G	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24143275A>G	(Likely) benign	1 lab	7c67b3a079
9:133963218 LAMC3 A>G	9	133963218	133963218	A	G	LAMC3	c.4477+14A>G	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133963218A>G	(Likely) benign	1 lab	7c6d13edb7
13:32910725 BRCA2 A>G	13	32910725	32910725	A	G	BRCA2	c.2233A>G	NM_000059.3	NP_000050.2:p.(Lys745Glu)	NC_000013.10:g.32910725A>G	(Likely) benign	1 lab	7c6f34ab5d
1:204921143 NFASC G>A	1	204921143	204921143	G	A	NFASC	c.114G>A	NM_001005388.2	NP_001005388.2:p.(Thr38=)	NC_000001.10:g.204921143G>A	(Likely) benign	1 lab	7c6f5626c6
10:102539336 PAX2 C>T	10	102539336	102539336	C	T	PAX2	c.492C>T	NM_003988.4	NP_003979.2:p.(Thr164=)	NC_000010.10:g.102539336C>T	(Likely) benign	1 lab	7c6feeff57
21:47418086 COL6A1 G>A	21	47418086	47418086	G	A	COL6A1	c.1575+1G>A	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47418086G>A	(Likely) pathogenic	1 lab	7c716e77aa
18:55355616 ATP8B1 G>C	18	55355616	55355616	G	C	ATP8B1	c.1344C>G	NM_005603.6	NP_005594.2:p.(Ile448Met)	NC_000018.9:g.55355616G>C	VUS	1 lab	7c726f8e57
17:48266008 COL1A1 A>G	17	48266008	48266008	A	G	COL1A1	c.3100-10T>C	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48266008A>G	(Likely) benign	1 lab	7c73d380b2
1:215820895 USH2A G>C	1	215820895	215820895	G	C	USH2A	c.14760C>G	NM_206933.2	NP_996816.2:p.(Ser4920=)	NC_000001.10:g.215820895G>C	(Likely) benign	1 lab	7c747bdd36
4:151504466 MAB21L2 C>T	4	151504466	151504466	C	T	MAB21L2	c.285C>T	NM_006439.4	NP_006430.1:p.(Pro95=)	NC_000004.11:g.151504466C>T	(Likely) benign	1 lab	7c75e7224e
1:196697605 CFH A>G	1	196697605	196697605	A	G	CFH	c.2366A>G	NM_000186.3	NP_000177.2:p.(His789Arg)	NC_000001.10:g.196697605A>G	(Likely) benign	1 lab	7c76084ad9
10:103990530 PITX3 C>T	10	103990530	103990530	C	T	PITX3	c.650G>A	NM_005029.3	NP_005020.1:p.(Gly217Asp)	NC_000010.10:g.103990530C>T	VUS	1 lab	7c778c3efd
X:20031698 MAP7D2 G>C	X	20031698	20031698	G	C	MAP7D2	c.1795C>G	NM_001168465.2	NP_001161937.1:p.(Pro599Ala)	NC_000023.10:g.20031698G>C	(Likely) benign	1 lab	7c78221c99
1:144617214 MISSING G>A	1	144617214	144617214	G	A	MISSING				NC_000001.10:g.144617214G>A	(Likely) benign	1 lab	7c78279873
19:7981581 TGFBR3L G>A	19	7981581	7981581	G	A	TGFBR3L	c.351G>A	NM_001195259.1	NP_001182188.1:p.(Pro117=)	NC_000019.9:g.7981581G>A	VUS	1 lab	7c7b4f6610
6:51523967 PKHD1 T>C	6	51523967	51523967	T	C	PKHD1	c.10957A>G	NM_138694.3	NP_619639.3:p.(Met3653Val)	NC_000006.11:g.51523967T>C	(Likely) benign	1 lab	7c7d537ee1
14:68215156 ZFYVE26 C>T	14	68215156	68215156	C	T	ZFYVE26	c.7617G>A	NM_015346.3	NP_056161.2:p.(Lys2539=)	NC_000014.8:g.68215156C>T	(Likely) benign	1 lab	7c7fb78748
17:39768936 KRT16 G>T	17	39768936	39768936	G	T	KRT16	c.5C>A	NM_005557.3	NP_005548.2:p.(Thr2Asn)	NC_000017.10:g.39768936G>T	VUS	1 lab	7c80da16d8
X:101858224 ARMCX5 A>T	X	101858224	101858224	A	T	ARMCX5	c.1155A>T	NM_001168479.1	NP_001161951.1:p.(Glu385Asp)	NC_000023.10:g.101858224A>T	VUS	1 lab	7c819a786f
13:31903652 B3GLCT T>C	13	31903652	31903652	T	C	B3GLCT	c.1344T>C	NM_194318.3	NP_919299.3:p.(Asp448=)	NC_000013.10:g.31903652T>C	(Likely) benign	1 lab	7c819b2ddc
X:14861874 FANCB C>T	X	14861874	14861874	C	T	FANCB	c.2395G>A	NM_001018113.1	NP_001018123.1:p.(Ala799Thr)	NC_000023.10:g.14861874C>T	(Likely) benign	1 lab	7c820d333d
7:23018030 HYCC1 T>C	7	23018030	23018030	T	C	HYCC1	c.191A>G	NM_001363466.1	NP_001350395.1:p.(Tyr64Cys)	NC_000007.13:g.23018030T>C	VUS	1 lab	7c829f523c
5:112174659 APC AAAATGTAAG>A	5	112174659	112174668	AAAATGTAAG	A	APC	c.3369_3377del	NM_000038.6	NP_000029.2:p.(Gln1123_Ser1126delinsHis)	NC_000005.9:g.112174660_112174668del	VUS	1 lab	7c8412ab4d
X:41206926 DDX3X A>G	X	41206926	41206926	A	G	DDX3X	c.1943A>G	NM_001356.4	NP_001347.3:p.(Tyr648Cys)	NC_000023.10:g.41206926A>G	VUS	1 lab	7c8417525b
3:160083918 IFT80 C>T	3	160083918	160083918	C	T	IFT80	c.462G>A	NM_020800.2	NP_065851.1:p.(Ala154=)	NC_000003.11:g.160083918C>T	(Likely) benign	1 lab	7c846c9e8c
19:50333856 MED25 G>A	19	50333856	50333856	G	A	MED25	c.907+1G>A	NM_030973.3	NP_112235.2:p.?	NC_000019.9:g.50333856G>A	VUS	1 lab	7c853d2a77
5:146778720 DPYSL3 A>G	5	146778720	146778720	A	G	DPYSL3	c.1548T>C	NM_001197294.2	NP_001184223.1:p.(Ser516=)	NC_000005.9:g.146778720A>G	(Likely) benign	1 lab	7c85cf1d32
2:97428073 CNNM4 A>G	2	97428073	97428073	A	G	CNNM4	c.1337A>G	NM_020184.3	NP_064569.3:p.(Asn446Ser)	NC_000002.11:g.97428073A>G	VUS	1 lab	7c864c866f
5:35871287 IL7R G>A	5	35871287	35871287	G	A	IL7R				NC_000005.9:g.35871287G>A	(Likely) benign	1 lab	7c86710614
X:70621416 TAF1 G>A	X	70621416	70621416	G	A	TAF1	c.3885G>A	NM_004606.4	NP_004597.2:p.(Arg1295=)	NC_000023.10:g.70621416G>A	(Likely) benign	1 lab	7c867f8f02
16:2135023 TSC2 A>G	16	2135023	2135023	A	G	TSC2	c.4496A>G	NM_001114382.2	NP_001107854.1:p.(Asn1499Ser)	NC_000016.9:g.2135023A>G	(Likely) benign	1 lab	7c89179a49
17:17697100 RAI1 CAG>C	17	17697100	17697102	CAG	C	RAI1	c.839_840del	NM_030665.4	NP_109590.3:p.(Gln280ProfsTer108)	NC_000017.10:g.17697101_17697102del	(Likely) benign	1 lab	f93e2910ec
17:77755771 CBX2 CT>C	17	77755771	77755772	CT	C	CBX2	c.288+172del	NM_005189.3	NP_005180.1:p.?	NC_000017.10:g.77755772del	VUS	1 lab	7c89c02075
1:1425789 ATAD3B C>G	1	1425789	1425789	C	G	ATAD3B	c.1352C>G	NM_001317238.1	NP_001304167.1:p.(Ala451Gly)	NC_000001.10:g.1425789C>G	VUS	1 lab	7c8a155935
X:134483042 ZNF449 T>C	X	134483042	134483042	T	C	ZNF449	c.362T>C	NM_152695.5	NP_689908.3:p.(Met121Thr)	NC_000023.10:g.134483042T>C	(Likely) benign	1 lab	7c8adcc746
11:117857199 IL10RA T>C	11	117857199	117857199	T	C	IL10RA	c.17T>C	NM_001558.3	NP_001549.2:p.(Val6Ala)	NC_000011.9:g.117857199T>C	(Likely) benign	1 lab	7c8c3d4e8e
7:75613137 POR C>T	7	75613137	75613137	C	T	POR	c.1029C>T	NM_000941.2	NP_000932.3:p.(Ala343=)	NC_000007.13:g.75613137C>T	(Likely) benign	1 lab	7c8e87b66d
10:73464858 CDH23 A>G	10	73464858	73464858	A	G	CDH23	c.2924A>G	NM_022124.5	NP_071407.4:p.(Lys975Arg)	NC_000010.10:g.73464858A>G	VUS	1 lab	7c8f5c0aaa
7:103029848 SLC26A5 A>G	7	103029848	103029848	A	G	SLC26A5	c.1335T>C	NM_198999.2	NP_945350.1:p.(Ile445=)	NC_000007.13:g.103029848A>G	(Likely) benign	1 lab	7c8fd5af96
8:68024299 CSPP1 C>T	8	68024299	68024299	C	T	CSPP1	c.1105C>T	NM_001363131.1	NP_001350060.1:p.(Arg369Ter)	NC_000008.10:g.68024299C>T	(Likely) pathogenic	1 lab	7c908db1ff
18:21474931 LAMA3 G>T	18	21474931	21474931	G	T	LAMA3	c.5522G>T	NM_198129.2	NP_937762.2:p.(Arg1841Leu)	NC_000018.9:g.21474931G>T	(Likely) benign	1 lab	7c91bc29b7
2:109383672 RANBP2 A>G	2	109383672	109383672	A	G	RANBP2	c.6677A>G	NM_006267.4	NP_006258.3:p.(Asn2226Ser)	NC_000002.11:g.109383672A>G	VUS	1 lab	7c92cd6d5f
2:8891647 KIDINS220 A>G	2	8891647	8891647	A	G	KIDINS220	c.3139T>C	NM_001348738.1	NP_001335667.1:p.(Phe1047Leu)	NC_000002.11:g.8891647A>G	VUS	1 lab	7c9337dcff
16:89985845 MC1R T>C	16	89985845	89985845	T	C	MC1R	c.179T>C	NM_002386.3	NP_002377.4:p.(Val60Ala)	NC_000016.9:g.89985845T>C	VUS	1 lab	7c94b6e24f
15:65917221 SLC24A1 T>C	15	65917221	65917221	T	C	SLC24A1	c.803T>C	NM_004727.2	NP_004718.1:p.(Val268Ala)	NC_000015.9:g.65917221T>C	VUS	1 lab	7c94dbdedc
5:37183247 CPLANE1 C>T	5	37183247	37183247	C	T	CPLANE1	c.5036G>A	NM_023073.3	NP_075561.3:p.(Gly1679Asp)	NC_000005.9:g.37183247C>T	VUS	1 lab	7c98808923
14:105410329 AHNAK2 T>C	14	105410329	105410329	T	C	AHNAK2	c.11459A>G	NM_138420.3	NP_612429.2:p.(Lys3820Arg)	NC_000014.8:g.105410329T>C	(Likely) benign	1 lab	7c989fccfb
X:70356372 MED12 T>C	X	70356372	70356372	T	C	MED12	c.5267T>C	NM_005120.2	NP_005111.2:p.(Leu1756Pro)	NC_000023.10:g.70356372T>C	(Likely) benign	1 lab	7c98a7c189
19:11688118 ACP5 C>T	19	11688118	11688118	C	T	ACP5	c.15G>A	NM_001111035.2	NP_001104505.1:p.(Thr5=)	NC_000019.9:g.11688118C>T	(Likely) benign	1 lab	7c98d8bfe0
22:38121227 TRIOBP A>G	22	38121227	38121227	A	G	TRIOBP	c.2664A>G	NM_001039141.2	NP_001034230.1:p.(Gln888=)	NC_000022.10:g.38121227A>G	(Likely) benign	1 lab	7c9abfa273
2:197777763 PGAP1 A>C	2	197777763	197777763	A	C	PGAP1	c.492T>G	NM_024989.3	NP_079265.2:p.(Ala164=)	NC_000002.11:g.197777763A>C	(Likely) benign	1 lab	7c9cc9e982
3:132394142 UBA5 T>C	3	132394142	132394142	T	C	UBA5	c.863T>C	NM_024818.4	NP_079094.1:p.(Met288Thr)	NC_000003.11:g.132394142T>C	VUS	1 lab	7c9d14cf90
16:71101217 HYDIN A>G	16	71101217	71101217	A	G	HYDIN	c.2051T>C	NM_001270974.2	NP_001257903.1:p.(Val684Ala)	NC_000016.9:g.71101217A>G	VUS	1 lab	7c9d3560a5
19:17931295 INSL3 C>T	19	17931295	17931295	C	T	INSL3	c.195G>A	NM_001265587.1	NP_001252516.1:p.(Arg65=)	NC_000019.9:g.17931295C>T	(Likely) benign	1 lab	7c9dc9fa00
X:37061739 FTHL18P T>C	X	37061739	37061739	T	C	FTHL18P	c.23A>G	NM_001271682.1	NP_001258611.1:p.(His8Arg)	NC_000023.10:g.37061739T>C	(Likely) benign	1 lab	7c9ee6c176
16:72144965 DHX38 G>C	16	72144965	72144965	G	C	DHX38	c.3588G>C	NM_014003.3	NP_054722.2:p.(Leu1196=)	NC_000016.9:g.72144965G>C	(Likely) benign	1 lab	7c9fd9388b
X:84362510 SATL1 G>A	X	84362510	84362510	G	A	SATL1	c.1465C>T	NM_001012980.2	NP_001012998.2:p.(Pro489Ser)	NC_000023.10:g.84362510G>A	(Likely) benign	1 lab	7ca01e1a77
7:99808704 STAG3 G>C	7	99808704	99808704	G	C	STAG3	c.3309G>C	NM_001282717.1	NP_001269646.1:p.(Pro1103=)	NC_000007.13:g.99808704G>C	(Likely) benign	1 lab	7ca05b68ae
17:29550519 NF1 CA>C	17	29550519	29550520	CA	C	NF1	c.1780del	NM_001042492.3	NP_001035957.1:p.(Thr594GlnfsTer11)	NC_000017.10:g.29550520del	(Likely) pathogenic	1 lab	7ca1e656b9
19:3600160 TBXA2R GC>G	19	3600160	3600163	GC	G	TBXA2R	c.472del	NM_001060.6	NP_001051.1:p.(Ala158ArgfsTer28)	NC_000019.9:g.3600163del	(Likely) pathogenic	1 lab	7ca33092f9
1:7721907 CAMTA1 C>T	1	7721907	7721907	C	T	CAMTA1	c.786C>T	NM_015215.3	NP_056030.1:p.(Cys262=)	NC_000001.10:g.7721907C>T	(Likely) benign	1 lab	7ca506a56d
12:2702484 CACNA1C C>T	12	2702484	2702484	C	T	CACNA1C	c.2636C>T	NM_199460.3	NP_955630.3:p.(Ala879Val)	NC_000012.11:g.2702484C>T	VUS	1 lab	7ca627937f
5:177577962 NHP2 A>G	5	177577962	177577962	A	G	NHP2	c.263T>C	NM_017838.3	NP_060308.1:p.(Ile88Thr)	NC_000005.9:g.177577962A>G	VUS	1 lab	7ca66258f1
12:31256546 DDX11 G>A	12	31256546	31256546	G	A	DDX11	c.2572G>A	NM_030653.4	NP_085911.2:p.(Val858Ile)	NC_000012.11:g.31256546G>A	(Likely) benign	1 lab	f9439f5cf2
16:3778998 CREBBP G>A	16	3778998	3778998	G	A	CREBBP	c.6050C>T	NM_004380.2	NP_004371.2:p.(Pro2017Leu)	NC_000016.9:g.3778998G>A	(Likely) benign	1 lab	7ca79240ec
5:178413761 GRM6 C>T	5	178413761	178413761	C	T	GRM6	c.1501-7G>A	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178413761C>T	(Likely) benign	1 lab	7ca79960ee
12:13768119 GRIN2B G>A	12	13768119	13768119	G	A	GRIN2B	c.1583C>T	NM_000834.5	NP_000825.2:p.(Pro528Leu)	NC_000012.11:g.13768119G>A	(Likely) pathogenic	1 lab	f944064ea9
19:50780052 MYH14 C>T	19	50780052	50780052	C	T	MYH14	c.3719C>T	NM_001145809.1	NP_001139281.1:p.(Thr1240Ile)	NC_000019.9:g.50780052C>T	VUS	1 lab	7ca951b8e7
X:47486675 CFP C>T	X	47486675	47486675	C	T	CFP	c.631G>A	NM_002621.2	NP_002612.1:p.(Gly211Ser)	NC_000023.10:g.47486675C>T	VUS	1 lab	7ca9cd8890
17:29554273 NF1 GAGGCGCATTGAGCATCCCAC>TTAAATTAGTGA	17	29554273	29554293	GAGGCGCATTGAGCATCCCAC	TTAAATTAGTGA	NF1	c.2289_2309delinsTTAAATTAGTGA	NM_000267.3	NP_000258.1:p.(Arg764Ter)	NC_000017.10:g.29554273_29554293delinsTTAAATTAGTGA	(Likely) pathogenic	1 lab	7caa2288cb
19:44058851 XRCC1 C>T	19	44058851	44058851	C	T	XRCC1	c.361G>A	NM_006297.2	NP_006288.2:p.(Ala121Thr)	NC_000019.9:g.44058851C>T	VUS	1 lab	7caa45eac9
17:42930859 EFTUD2 G>A	17	42930859	42930859	G	A	EFTUD2	c.2466+26C>T	NM_004247.3	NP_004238.3:p.?	NC_000017.10:g.42930859G>A	(Likely) benign	1 lab	7cab02664b
10:102775504 PDZD7 A>G	10	102775504	102775504	A	G	PDZD7	c.1638T>C	NM_001195263.1	NP_001182192.1:p.(Asn546=)	NC_000010.10:g.102775504A>G	(Likely) benign	1 lab	7cac90a1e5
17:42953413 EFTUD2 A>T	17	42953413	42953413	A	T	EFTUD2	c.758T>A	NM_001258353.1	NP_001245282.1:p.(Val253Asp)	NC_000017.10:g.42953413A>T	VUS	1 lab	7cadf6ee7f
11:5729812 TRIM22 A>G	11	5729812	5729812	A	G	TRIM22	c.868A>G	NM_001199573.1	NP_001186502.1:p.(Thr290Ala)	NC_000011.9:g.5729812A>G	(Likely) benign	1 lab	7caeeb93ee
17:73829114 UNC13D G>A	17	73829114	73829114	G	A	UNC13D	c.2380C>T	NM_199242.2	NP_954712.1:p.(Leu794=)	NC_000017.10:g.73829114G>A	(Likely) benign	1 lab	7caff4496d
10:73501481 CDH23 G>T	10	73501481	73501481	G	T	CDH23	c.4648G>T	NM_022124.5	NP_071407.4:p.(Val1550Leu)	NC_000010.10:g.73501481G>T	VUS	1 lab	7cb091515a
16:3556323 CLUAP1 C>T	16	3556323	3556323	C	T	CLUAP1	c.135-8C>T	NM_001330454.1	NP_001317383.1:p.?	NC_000016.9:g.3556323C>T	(Likely) benign	1 lab	7cb0b74a76
5:11098865 CTNND2 C>T	5	11098865	11098865	C	T	CTNND2	c.2464-5G>A	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11098865C>T	(Likely) benign	1 lab	f946611ea0
9:14824117 FREM1 A>C	9	14824117	14824117	A	C	FREM1	c.2079-4T>G	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14824117A>C	(Likely) benign	1 lab	7cb12cd93b
15:23892116 MAGEL2 C>T	15	23892116	23892116	C	T	MAGEL2	c.774G>A	NM_019066.4	NP_061939.3:p.(Pro258=)	NC_000015.9:g.23892116C>T	(Likely) benign	1 lab	7cb1bd7db3
4:39274618 WDR19 G>A	4	39274618	39274618	G	A	WDR19	c.3502G>A	NM_025132.3	NP_079408.3:p.(Asp1168Asn)	NC_000004.11:g.39274618G>A	VUS	1 lab	7cb2f198d5
19:1612376 TCF3 C>A	19	1612376	1612376	C	A	TCF3	c.1643G>T	NM_001351779.1	NP_001338708.1:p.(Arg548Leu)	NC_000019.9:g.1612376C>A	VUS	1 lab	7cb2fe1d97
1:2338250 PEX10 C>G	1	2338250	2338250	C	G	PEX10	c.745G>C	NM_153818.1	NP_722540.1:p.(Val249Leu)	NC_000001.10:g.2338250C>G	(Likely) benign	1 lab	7cb41541ed
11:118344699 KMT2A G>A	11	118344699	118344699	G	A	KMT2A	c.2825G>A	NM_001197104.1	NP_001184033.1:p.(Gly942Glu)	NC_000011.9:g.118344699G>A	(Likely) benign	1 lab	7cb51da005
15:25615920 UBE3A T>C	15	25615920	25615920	T	C	UBE3A	c.1341A>G	NM_001354543.1	NP_001341472.1:p.(Glu447=)	NC_000015.9:g.25615920T>C	(Likely) benign	1 lab	7cb76f120c
22:50658442 TUBGCP6 G>A	22	50658442	50658442	G	A	TUBGCP6	c.4111C>T	NM_020461.3	NP_065194.2:p.(Pro1371Ser)	NC_000022.10:g.50658442G>A	VUS	1 lab	7cb7d3a680
2:170137025 LRP2 G>A	2	170137025	170137025	G	A	LRP2	c.1176C>T	NM_004525.3	NP_004516.2:p.(Gly392=)	NC_000002.11:g.170137025G>A	(Likely) benign	1 lab	7cb92c88e8
2:71337204 MCEE G>A	2	71337204	71337204	G	A	MCEE	c.427C>T	NM_032601.3	NP_115990.3:p.(Arg143Cys)	NC_000002.11:g.71337204G>A	(Likely) benign	1 lab	7cb9d84088
12:124229438 ATP6V0A2 C>T	12	124229438	124229438	C	T	ATP6V0A2	c.1524C>T	NM_012463.3	NP_036595.2:p.(Val508=)	NC_000012.11:g.124229438C>T	(Likely) benign	1 lab	7cbaad2718
17:76570808 DNAH17 G>T	17	76570808	76570808	G	T	DNAH17	c.332C>A	NM_173628.3	NP_775899.3:p.(Ala111Glu)	NC_000017.10:g.76570808G>T	(Likely) benign	1 lab	7cbb716a3c
X:51361739 CENPVL3 T>G	X	51361739	51361739	T	G	CENPVL3	c.32A>C	NM_001355276.1	NP_001342205.1:p.(Glu11Ala)	NC_000023.10:g.51361739T>G	VUS	1 lab	7cbbe12f50
1:228522953 OBSCN C>T	1	228522953	228522953	C	T	OBSCN	c.19230C>T	NM_001271223.2	NP_001258152.2:p.(Asn6410=)	NC_000001.10:g.228522953C>T	(Likely) benign	1 lab	7cbe258ab1
1:41976615 HIVEP3 C>T	1	41976615	41976615	C	T	HIVEP3	c.6728G>A	NM_024503.4	NP_078779.2:p.(Arg2243His)	NC_000001.10:g.41976615C>T	VUS	1 lab	7cbe433c25
11:1269417 MUC5B C>A	11	1269417	1269417	C	A	MUC5B	c.11307C>A	NM_002458.2	NP_002449.2:p.(Pro3769=)	NC_000011.9:g.1269417C>A	(Likely) benign	1 lab	7cbe88ad46
21:47532420 COL6A2 G>A	21	47532420	47532420	G	A	COL6A2	c.643G>A	NM_058175.2	NP_478055.2:p.(Asp215Asn)	NC_000021.8:g.47532420G>A	(Likely) benign	1 lab	7cbfad1fd6
3:38627268 SCN5A C>T	3	38627268	38627268	C	T	SCN5A	c.2701G>A	NM_001099404.1	NP_001092874.1:p.(Glu901Lys)	NC_000003.11:g.38627268C>T	VUS	1 lab	7cc06b0882
12:64173757 RXYLT1 A>G	12	64173757	64173757	A	G	RXYLT1	c.17A>G	NM_014254.2	NP_055069.1:p.(Lys6Arg)	NC_000012.11:g.64173757A>G	(Likely) benign	1 lab	7cc0bac38d
1:22175143 HSPG2 C>T	1	22175143	22175143	C	T	HSPG2	c.7733G>A	NM_001291860.1	NP_001278789.1:p.(Arg2578Gln)	NC_000001.10:g.22175143C>T	(Likely) benign	1 lab	7cc0c8197e
18:44229197 LOXHD1 C>T	18	44229197	44229197	C	T	LOXHD1	c.166G>A	NM_144612.6	NP_653213.6:p.(Gly56Ser)	NC_000018.9:g.44229197C>T	VUS	1 lab	7cc4e95ec8
X:102968446 GLRA4 A>G	X	102968446	102968446	A	G	GLRA4	c.1083+2T>C	NM_001024452.2	NP_001019623.2:p.?	NC_000023.10:g.102968446A>G	VUS	1 lab	7cc825dc3a
15:40942786 KNL1 G>A	15	40942786	40942786	G	A	KNL1	c.6290+5G>A	NM_170589.4	NP_733468.3:p.?	NC_000015.9:g.40942786G>A	(Likely) benign	1 lab	7cc8f4782b
17:72745114 NHERF1 G>T	17	72745114	72745114	G	T	NHERF1	c.129G>T	NM_004252.5	NP_004243.1:p.(Glu43Asp)	NC_000017.10:g.72745114G>T	VUS	1 lab	f9467e3094
2:26467465 HADHA C>A	2	26467465	26467465	C	A	HADHA	c.-1G>T	NM_000182.5	NP_000173.2:p.?	NC_000002.11:g.26467465C>A	(Likely) benign	1 lab	f94768cb32
16:69725849 NFAT5 T>C	16	69725849	69725849	T	C	NFAT5	c.1839T>C	NM_138714.3	NP_619728.2:p.(Phe613=)	NC_000016.9:g.69725849T>C	(Likely) benign	1 lab	7ccd20b2cd
16:1505229 CLCN7 G>A	16	1505229	1505229	G	A	CLCN7	c.1004C>T	NM_001287.5	NP_001278.1:p.(Thr335Met)	NC_000016.9:g.1505229G>A	VUS	1 lab	7ccd328097
22:29091781 CHEK2 C>T	22	29091781	29091781	C	T	CHEK2	c.1176G>A	NM_007194.4	NP_009125.1:p.(Ala392=)	NC_000022.10:g.29091781C>T	(Likely) benign	1 lab	7ccda64694
5:149436876 CSF1R C>T	5	149436876	149436876	C	T	CSF1R	c.2293G>A	NM_001349736.1	NP_001336665.1:p.(Gly765Ser)	NC_000005.9:g.149436876C>T	VUS	1 lab	7cce0a41ef
8:100654471 VPS13B G>A	8	100654471	100654471	G	A	VPS13B	c.5728G>A	NM_017890.4	NP_060360.3:p.(Gly1910Arg)	NC_000008.10:g.100654471G>A	VUS	1 lab	7ccf384f71
19:50154908 SCAF1 C>T	19	50154908	50154908	C	T	SCAF1	c.1262C>T	NM_021228.3	NP_067051.2:p.(Pro421Leu)	NC_000019.9:g.50154908C>T	(Likely) benign	1 lab	7ccf9481e9
16:75579250 TMEM231 G>A	16	75579250	75579250	G	A	TMEM231	c.582C>T	NM_001077418.3	NP_001070886.1:p.(Asn194=)	NC_000016.9:g.75579250G>A	(Likely) benign	1 lab	7cd01b4af1
5:131953868 RAD50 G>A	5	131953868	131953868	G	A	RAD50	c.3271G>A	NM_005732.3	NP_005723.2:p.(Glu1091Lys)	NC_000005.9:g.131953868G>A	VUS	1 lab	7cd1084fb1
5:149324081 PDE6A C>T	5	149324081	149324081	C	T	PDE6A	c.156G>A	NM_000440.2	NP_000431.2:p.(Pro52=)	NC_000005.9:g.149324081C>T	(Likely) benign	1 lab	7cd1ca8133
15:74488025 STRA6 T>A	15	74488025	74488025	T	A	STRA6	c.524-9A>T	NM_001199042.1	NP_001185971.1:p.?	NC_000015.9:g.74488025T>A	(Likely) benign	1 lab	7cd33b6756
11:6652627 DCHS1 G>A	11	6652627	6652627	G	A	DCHS1				NC_000011.9:g.6652627G>A	(Likely) benign	1 lab	ae758d1fe5
1:183086559 LAMC1 C>T	1	183086559	183086559	C	T	LAMC1	c.1669C>T	NM_002293.3	NP_002284.3:p.(Arg557Trp)	NC_000001.10:g.183086559C>T	(Likely) benign	1 lab	7cd5481f4c
X:48925232 CCDC120 G>A	X	48925232	48925232	G	A	CCDC120				NC_000023.10:g.48925232G>A	VUS	1 lab	7cd5ce25f2
17:42427877 GRN G>T	17	42427877	42427877	G	T	GRN	c.530G>T	NM_002087.2	NP_002078.1:p.(Arg177Leu)	NC_000017.10:g.42427877G>T	VUS	1 lab	7cd8f4e405
X:48214632 SSX3 G>A	X	48214632	48214632	G	A	SSX3	c.53C>T	NM_021014.3	NP_066294.1:p.(Pro18Leu)	NC_000023.10:g.48214632G>A	(Likely) benign	1 lab	7cd9216762
5:67591997 PIK3R1 A>G	5	67591997	67591997	A	G	PIK3R1	c.1815-2A>G	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67591997A>G	VUS	1 lab	7cd96d8258
16:57685238 ADGRG1 C>T	16	57685238	57685238	C	T	ADGRG1	c.191C>T	NM_001145772.2	NP_001139244.1:p.(Ala64Val)	NC_000016.9:g.57685238C>T	(Likely) benign	1 lab	7cda6860da
X:153594793 FLNA C>T	X	153594793	153594793	C	T	FLNA	c.1111G>A	NM_001110556.2	NP_001104026.1:p.(Glu371Lys)	NC_000023.10:g.153594793C>T	VUS	1 lab	7cda8bfb40
X:150348558 GPR50 C>T	X	150348558	150348558	C	T	GPR50	c.503C>T	NM_004224.3	NP_004215.2:p.(Thr168Ile)	NC_000023.10:g.150348558C>T	VUS	1 lab	7cdab8ab2c
12:58156953 CYP27B1 C>T	12	58156953	58156953	C	T	CYP27B1	c.1499G>A	NM_000785.3	NP_000776.1:p.(Ser500Asn)	NC_000012.11:g.58156953C>T	(Likely) benign	1 lab	7cde7a610b
17:40714461 COASY G>A	17	40714461	40714461	G	A	COASY	c.32G>A	NM_001042532.3	NP_001035997.2:p.(Arg11Gln)	NC_000017.10:g.40714461G>A	(Likely) benign	1 lab	7cdecd2f7b
3:100539960 ABI3BP G>T	3	100539960	100539960	G	T	ABI3BP	c.2696-3C>A	NM_001349329.1	NP_001336258.1:p.?	NC_000003.11:g.100539960G>T	VUS	1 lab	7ce07c8496
12:103245519 PAH C>T	12	103245519	103245519	C	T	PAH	c.858G>A	NM_000277.1	NP_000268.1:p.(Glu286=)	NC_000012.11:g.103245519C>T	(Likely) benign	1 lab	7ce0ad3520
17:1631537 WDR81 C>T	17	1631537	1631537	C	T	WDR81	c.3284C>T	NM_001163809.1	NP_001157281.1:p.(Pro1095Leu)	NC_000017.10:g.1631537C>T	(Likely) benign	1 lab	7ce0eed863
11:67925863 KMT5B A>C	11	67925863	67925863	A	C	KMT5B	c.1434T>G	NM_001300907.1	NP_001287836.1:p.(Ser478=)	NC_000011.9:g.67925863A>C	(Likely) benign	1 lab	7ce157255e
2:152450524 NEB G>A	2	152450524	152450524	G	A	NEB	c.14514C>T	NM_001271208.1	NP_001258137.1:p.(Ser4838=)	NC_000002.11:g.152450524G>A	(Likely) benign	1 lab	7ce1ecfa7a
X:48661118 HDAC6 G>A	X	48661118	48661118	G	A	HDAC6	c.19G>A	NM_006044.3	NP_006035.2:p.(Asp7Asn)	NC_000023.10:g.48661118G>A	(Likely) benign	1 lab	7ce3a980f6
11:17135906 PIK3C2A A>G	11	17135906	17135906	A	G	PIK3C2A	c.3321+2T>C	NM_001321378.1	NP_001308307.1:p.?	NC_000011.9:g.17135906A>G	(Likely) pathogenic	1 lab	7ce46dff66
17:10533421 MYH3 C>T	17	10533421	10533421	C	T	MYH3	c.5550G>A	NM_002470.3	NP_002461.2:p.(Glu1850=)	NC_000017.10:g.10533421C>T	(Likely) benign	1 lab	7ce8a47f24
2:215890449 ABCA12 T>C	2	215890449	215890449	T	C	ABCA12	c.1235A>G	NM_173076.2	NP_775099.2:p.(Asn412Ser)	NC_000002.11:g.215890449T>C	VUS	1 lab	7ce912e356
19:1062179 ABCA7 G>A	19	1062179	1062179	G	A	ABCA7	c.5579G>A	NM_019112.3	NP_061985.2:p.(Arg1860Gln)	NC_000019.9:g.1062179G>A	(Likely) benign	1 lab	7ce9bcd869
10:79784470 POLR3A G>A	10	79784470	79784470	G	A	POLR3A	c.491-9C>T	NM_007055.3	NP_008986.2:p.?	NC_000010.10:g.79784470G>A	(Likely) benign	1 lab	7ceb12dd6a
6:107533318 PDSS2 G>C	6	107533318	107533318	G	C	PDSS2	c.871C>G	NM_020381.3	NP_065114.3:p.(His291Asp)	NC_000006.11:g.107533318G>C	VUS	1 lab	7cec92d5a6
1:91405217 ZNF644 T>C	1	91405217	91405217	T	C	ZNF644	c.1694A>G	NM_201269.2	NP_958357.1:p.(Lys565Arg)	NC_000001.10:g.91405217T>C	VUS	1 lab	7cec9b2d2b
14:102466328 DYNC1H1 C>T	14	102466328	102466328	C	T	DYNC1H1	c.3807C>T	NM_001376.4	NP_001367.2:p.(Gly1269=)	NC_000014.8:g.102466328C>T	VUS	1 lab	7cee07a738
11:35231513 CD44 G>T	11	35231513	35231513	G	T	CD44	c.1518G>T	NM_000610.3	NP_000601.3:p.(Gln506His)	NC_000011.9:g.35231513G>T	(Likely) benign	1 lab	7cee903f9b
5:150925211 FAT2 G>A	5	150925211	150925211	G	A	FAT2	c.5477C>T	NM_001447.2	NP_001438.1:p.(Ser1826Leu)	NC_000005.9:g.150925211G>A	(Likely) benign	1 lab	7ceef60508
1:39900080 MACF1 A>T	1	39900080	39900080	A	T	MACF1	c.11380-6A>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39900080A>T	(Likely) benign	1 lab	7cef58538d
7:82582570 PCLO T>G	7	82582570	82582570	T	G	PCLO	c.7699A>C	NM_033026.6	NP_149015.2:p.(Lys2567Gln)	NC_000007.13:g.82582570T>G	VUS	1 lab	f947ca143a
22:25598678 CRYBB3 G>A	22	25598678	25598678	G	A	CRYBB3	c.113G>A	NM_004076.4	NP_004067.1:p.(Arg38His)	NC_000022.10:g.25598678G>A	(Likely) benign	1 lab	7cf0e96c40
4:79403662 FRAS1 A>T	4	79403662	79403662	A	T	FRAS1	c.8725A>T	NM_025074.7	NP_079350.5:p.(Ile2909Phe)	NC_000004.11:g.79403662A>T	VUS	1 lab	7cf286ee07
11:126143248 FOXRED1 C>T	11	126143248	126143248	C	T	FOXRED1	c.435C>T	NM_017547.3	NP_060017.1:p.(Val145=)	NC_000011.9:g.126143248C>T	(Likely) benign	1 lab	7cf328cf4e
1:157551429 FCRL4 G>A	1	157551429	157551429	G	A	FCRL4	c.1141C>T	NM_031282.3	NP_112572.1:p.(Pro381Ser)	NC_000001.10:g.157551429G>A	(Likely) benign	1 lab	7cf3578441
X:49126534 PPP1R3F G>A	X	49126534	49126534	G	A	PPP1R3F	c.202G>A	NM_033215.4	NP_149992.3:p.(Ala68Thr)	NC_000023.10:g.49126534G>A	(Likely) benign	1 lab	7cf3f1a89e
16:89598933 SPG7 G>A	16	89598933	89598933	G	A	SPG7	c.1213G>A	NM_003119.3	NP_003110.1:p.(Val405Ile)	NC_000016.9:g.89598933G>A	VUS	1 lab	7cf499ef68
13:111118418 COL4A2 G>T	13	111118418	111118418	G	T	COL4A2	c.2038+9G>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111118418G>T	(Likely) benign	1 lab	7cf67ff1bb
3:4459778 SUMF1 G>A	3	4459778	4459778	G	A	SUMF1	c.641C>T	NM_182760.3	NP_877437.2:p.(Ala214Val)	NC_000003.11:g.4459778G>A	VUS	1 lab	7cf70e6720
17:2324079 METTL16 C>T	17	2324079	2324079	C	T	METTL16	c.1008G>A	NM_024086.4	NP_076991.3:p.(Ala336=)	NC_000017.10:g.2324079C>T	(Likely) benign	1 lab	7cf87ef6c2
X:16707711 CTPS2 T>C	X	16707711	16707711	T	C	CTPS2	c.734A>G	NM_001144002.1	NP_001137474.1:p.(His245Arg)	NC_000023.10:g.16707711T>C	VUS	1 lab	7cf8b4903d
17:33501345 UNC45B G>A	17	33501345	33501345	G	A	UNC45B	c.1915G>A	NM_001033576.1	NP_001028748.1:p.(Asp639Asn)	NC_000017.10:g.33501345G>A	VUS	1 lab	7cf8d72cf9
9:140671126 EHMT1 C>A	9	140671126	140671126	C	A	EHMT1	c.1848C>A	NM_024757.4	NP_079033.4:p.(Asp616Glu)	NC_000009.11:g.140671126C>A	(Likely) benign	1 lab	7cf9a9f8b5
16:89167074 ACSF3 G>GCCCCAGGAGGCTC	16	89167074	89167077	G	GCCCCAGGAGGCTC	ACSF3	c.-14_-13insCCAGGAGGCTCCC	NM_001243279.3	NP_001230208.1:p.?	NC_000016.9:g.89167076_89167077insCCAGGAGGCTCCC	(Likely) benign	1 lab	f94b20ecf9
8:94740472 CIBAR1 G>C	8	94740472	94740472	G	C	CIBAR1	c.817G>C	NM_145269.4	NP_660312.2:p.(Asp273His)	NC_000008.10:g.94740472G>C	VUS	1 lab	7cfb9ff98e
1:22150131 HSPG2 G>A	1	22150131	22150131	G	A	HSPG2	c.12984C>T	NM_001291860.1	NP_001278789.1:p.(Asn4328=)	NC_000001.10:g.22150131G>A	(Likely) benign	1 lab	7cfe9cab1a
15:77287789 PSTPIP1 G>T	15	77287789	77287789	G	T	PSTPIP1	c.70G>T	NM_001321137.1	NP_001308066.1:p.(Gly24Cys)	NC_000015.9:g.77287789G>T	(Likely) benign	1 lab	7cfeaf417b
11:103062882 DYNC2H1 C>T	11	103062882	103062882	C	T	DYNC2H1	c.7597C>T	NM_001080463.1	NP_001073932.1:p.(Arg2533Cys)	NC_000011.9:g.103062882C>T	VUS	1 lab	7cff95dcc5
X:153740711 FAM3A C>T	X	153740711	153740711	C	T	FAM3A	c.96G>A	NM_001282311.1	NP_001269240.1:p.(Ser32=)	NC_000023.10:g.153740711C>T	(Likely) benign	1 lab	7d00d124da
18:50923732 DCC ATG>A	18	50923732	50923735	ATG	A	DCC	c.2745_2746del	NM_005215.4	NP_005206.2:p.(Met915IlefsTer2)	NC_000018.9:g.50923734_50923735del	(Likely) pathogenic	1 lab	f94b652f01
8:39581279 ADAM18 C>T	8	39581279	39581279	C	T	ADAM18	c.2030C>T	NM_014237.3	NP_055052.1:p.(Thr677Ile)	NC_000008.10:g.39581279C>T	(Likely) benign	1 lab	7d03a35e8f
1:235920684 LYST G>A	1	235920684	235920684	G	A	LYST	c.6956C>T	NM_001301365.1	NP_001288294.1:p.(Pro2319Leu)	NC_000001.10:g.235920684G>A	VUS	1 lab	f94d801b4a
17:19251098 B9D1 G>A	17	19251098	19251098	G	A	B9D1	c.340C>T	NM_001321218.1	NP_001308147.1:p.(Arg114Trp)	NC_000017.10:g.19251098G>A	VUS	1 lab	7d04fdfff6
2:74315040 TET3 C>T	2	74315040	74315040	C	T	TET3	c.2763C>T	NM_001287491.2	NP_001274420.1:p.(Ile921=)	NC_000002.11:g.74315040C>T	(Likely) benign	1 lab	f95031a579
15:74474737 STRA6 C>G	15	74474737	74474737	C	G	STRA6	c.1482G>C	NM_001199042.1	NP_001185971.1:p.(Met494Ile)	NC_000015.9:g.74474737C>G	(Likely) benign	1 lab	7d094eb8f1
21:47410932 COL6A1 G>A	21	47410932	47410932	G	A	COL6A1	c.1096G>A	NM_001848.2	NP_001839.2:p.(Ala366Thr)	NC_000021.8:g.47410932G>A	VUS	1 lab	7d096b2683
17:29654782 NF1 T>C	17	29654782	29654782	T	C	NF1	c.5471T>C	NM_000267.3	NP_000258.1:p.(Ile1824Thr)	NC_000017.10:g.29654782T>C	(Likely) pathogenic	1 lab	7d0c84d86a
2:202050674 CASP10 C>T	2	202050674	202050674	C	T	CASP10	c.174C>T	NM_032977.3	NP_116759.2:p.(Ala58=)	NC_000002.11:g.202050674C>T	(Likely) benign	1 lab	7d0c8a1da0
19:38778556 SPINT2 G>A	19	38778556	38778556	G	A	SPINT2	c.318G>A	NM_021102.3	NP_066925.1:p.(Ala106=)	NC_000019.9:g.38778556G>A	(Likely) benign	1 lab	7d0c946ffb
7:73456940 ELN G>A	7	73456940	73456940	G	A	ELN	c.233-4G>A	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73456940G>A	(Likely) benign	1 lab	7d0dc907fb
7:70228064 AUTS2 T>G	7	70228064	70228064	T	G	AUTS2	c.951T>G	NM_001127231.2	NP_001120703.1:p.(Ala317=)	NC_000007.13:g.70228064T>G	(Likely) benign	1 lab	7d0de3b7d9
2:179408156 TTN C>T	2	179408156	179408156	C	T	TTN	c.96544G>A	NM_001267550.1	NP_001254479.1:p.(Glu32182Lys)	NC_000002.11:g.179408156C>T	VUS	1 lab	7d0f67cbc7
20:10621430 JAG1 CCTGTT>C	20	10621430	10621442	CCTGTT	C	JAG1	c.3195_3199del	NM_000214.3	NP_000205.1:p.(Thr1066PhefsTer41)	NC_000020.10:g.10621438_10621442del	(Likely) pathogenic	1 lab	7d10deaf2e
2:145158832 ZEB2 A>G	2	145158832	145158832	A	G	ZEB2	c.850T>C	NM_014795.4	NP_055610.1:p.(Cys284Arg)	NC_000002.11:g.145158832A>G	(Likely) pathogenic	1 lab	f95158d373
13:20717107 GJA3 TTTC>T	13	20717107	20717117	TTTC	T	GJA3	c.318_320del	NM_021954.4	NP_068773.2:p.(Lys107del)	NC_000013.10:g.20717115_20717117del	VUS	1 lab	7d120e81cb
X:63444860 ASB12 C>T	X	63444860	63444860	C	T	ASB12	c.671G>A	NM_130388.3	NP_569059.3:p.(Arg224His)	NC_000023.10:g.63444860C>T	(Likely) benign	1 lab	7d13099ca7
8:6266785 MCPH1 A>G	8	6266785	6266785	A	G	MCPH1	c.23-15A>G	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6266785A>G	(Likely) benign	1 lab	7d15def46f
3:10370792 ATP2B2 C>T	3	10370792	10370792	C	T	ATP2B2	c.3438G>A	NM_001001331.3	NP_001001331.1:p.(Ala1146=)	NC_000003.11:g.10370792C>T	(Likely) benign	1 lab	7d1636ad67
16:72138417 DHX38 C>T	16	72138417	72138417	C	T	DHX38	c.2043C>T	NM_014003.3	NP_054722.2:p.(Ile681=)	NC_000016.9:g.72138417C>T	(Likely) benign	1 lab	7d16d91ee5
5:73981092 HEXB C>T	5	73981092	73981092	C	T	HEXB	c.7C>T	NM_000521.3	NP_000512.1:p.(Leu3=)	NC_000005.9:g.73981092C>T	(Likely) benign	1 lab	7d16da9e93
9:130952712 CIZ1 G>A	9	130952712	130952712	G	A	CIZ1	c.272C>T	NM_001257975.1	NP_001244904.1:p.(Pro91Leu)	NC_000009.11:g.130952712G>A	(Likely) benign	1 lab	7d18333641
15:66995995 SMAD6 C>T	15	66995995	66995995	C	T	SMAD6	c.399C>T	NM_005585.4	NP_005576.3:p.(Asp133=)	NC_000015.9:g.66995995C>T	(Likely) benign	1 lab	7d1ca71e55
2:179392300 TTN C>A	2	179392300	179392300	C	A	TTN	c.107553G>T	NM_001267550.1	NP_001254479.1:p.(Met35851Ile)	NC_000002.11:g.179392300C>A	VUS	1 lab	7d1d4d287c
22:31006952 TCN2 C>T	22	31006952	31006952	C	T	TCN2	c.159C>T	NM_001184726.1	NP_001171655.1:p.(Ser53=)	NC_000022.10:g.31006952C>T	(Likely) benign	1 lab	7d1fa05e6a
6:170871084 TBP A>G	6	170871084	170871084	A	G	TBP	c.260A>G	NM_003194.4	NP_003185.1:p.(Gln87Arg)	NC_000006.11:g.170871084A>G	(Likely) benign	1 lab	7d2243cbbc
10:50678425 ERCC6 T>C	10	50678425	50678425	T	C	ERCC6	c.3581A>G	NM_000124.2	NP_000115.1:p.(Glu1194Gly)	NC_000010.10:g.50678425T>C	(Likely) benign	1 lab	7d23f6e06b
3:4715018 ITPR1 C>T	3	4715018	4715018	C	T	ITPR1	c.2358C>T	NM_001168272.1	NP_001161744.1:p.(Pro786=)	NC_000003.11:g.4715018C>T	(Likely) benign	1 lab	7d24a16972
8:104778752 RIMS2 A>G	8	104778752	104778752	A	G	RIMS2	c.817A>G	NM_001348484.1	NP_001335413.1:p.(Ile273Val)	NC_000008.10:g.104778752A>G	(Likely) benign	1 lab	7d259db081
9:32500931 RIGI A>G	9	32500931	32500931	A	G	RIGI	c.113T>C	NM_014314.4	NP_055129.2:p.(Val38Ala)	NC_000009.11:g.32500931A>G	VUS	1 lab	f955f28b9b
19:4099384 MAP2K2 G>A	19	4099384	4099384	G	A	MAP2K2	c.734C>T	NM_030662.3	NP_109587.1:p.(Ser245Leu)	NC_000019.9:g.4099384G>A	VUS	1 lab	7d27b49117
2:179605413 TTN T>C	2	179605413	179605413	T	C	TTN	c.12547A>G	NM_001267550.1	NP_001254479.1:p.(Lys4183Glu)	NC_000002.11:g.179605413T>C	VUS	1 lab	7d27fd4b46
3:52325942 GLYCTK T>G	3	52325942	52325942	T	G	GLYCTK	c.705+4T>G	NM_145262.3	NP_660305.2:p.?	NC_000003.11:g.52325942T>G	(Likely) benign	1 lab	7d2823b9e1
7:45614400 ADCY1 C>G	7	45614400	45614400	C	G	ADCY1	c.258C>G	NM_021116.3	NP_066939.1:p.(Pro86=)	NC_000007.13:g.45614400C>G	(Likely) benign	1 lab	7d2890c9f5
13:103400331 LRTM3 G>A	13	103400331	103400331	G	A	LRTM3	c.2716C>T	NM_001146197.2	NP_001139669.1:p.(Gln906Ter)	NC_000013.10:g.103400331G>A	VUS	1 lab	7d297449b3
7:91851250 KRIT1 CTTCTT>C	7	91851250	91851255	CTTCTT	C	KRIT1	c.1524_1528del	NM_194454.3	NP_919436.1:p.(Arg510CysfsTer8)	NC_000007.13:g.91851251_91851255del	(Likely) pathogenic	1 lab	7d2a271aee
14:64547323 SYNE2 G>C	14	64547323	64547323	G	C	SYNE2	c.11313G>C	NM_182914.2	NP_878918.2:p.(Gln3771His)	NC_000014.8:g.64547323G>C	VUS	1 lab	7d2b2bdb2a
8:41791876 KAT6A C>T	8	41791876	41791876	C	T	KAT6A	c.3862G>A	NM_006766.5	NP_006757.2:p.(Glu1288Lys)	NC_000008.10:g.41791876C>T	(Likely) benign	1 lab	f956626c94
1:6589165 NOL9 C>A	1	6589165	6589165	C	A	NOL9	c.1714G>T	NM_024654.5	NP_078930.4:p.(Ala572Ser)	NC_000001.10:g.6589165C>A	VUS	1 lab	7d2d05ccba
4:5713212 EVC C>A	4	5713212	5713212	C	A	EVC	c.105C>A	NM_153717.2	NP_714928.1:p.(Gly35=)	NC_000004.11:g.5713212C>A	(Likely) benign	1 lab	7d2e8c56f8
22:38565247 PLA2G6 T>C	22	38565247	38565247	T	C	PLA2G6	c.187A>G	NM_003560.2	NP_003551.2:p.(Arg63Gly)	NC_000022.10:g.38565247T>C	(Likely) benign	1 lab	7d30b59316
19:35449738 ZNF792 C>G	19	35449738	35449738	C	G	ZNF792	c.1021G>C	NM_175872.5	NP_787068.3:p.(Gly341Arg)	NC_000019.9:g.35449738C>G	(Likely) benign	1 lab	7d315f8231
8:28575255 EXTL3 C>T	8	28575255	28575255	C	T	EXTL3	c.1679C>T	NM_001440.3	NP_001431.1:p.(Ala560Val)	NC_000008.10:g.28575255C>T	VUS	1 lab	7d317a7707
16:30978324 SETD1A C>T	16	30978324	30978324	C	T	SETD1A	c.2625C>T	NM_014712.2	NP_055527.1:p.(Ile875=)	NC_000016.9:g.30978324C>T	(Likely) benign	1 lab	7d31bcabf7
11:108170565 ATM G>GAA	11	108170565	108170567	G	GAA	ATM	c.5131_5132insAA	NM_000051.3	NP_000042.3:p.(Thr1711LysfsTer4)	NC_000011.9:g.108170566_108170567insAA	(Likely) pathogenic	1 lab	7d33c05d34
16:1251998 CACNA1H C>G	16	1251998	1251998	C	G	CACNA1H	c.1548C>G	NM_021098.2	NP_066921.2:p.(His516Gln)	NC_000016.9:g.1251998C>G	(Likely) benign	1 lab	7d34b7234b
11:108190751 ATM T>C	11	108190751	108190751	T	C	ATM	c.6418T>C	NM_000051.3	NP_000042.3:p.(Phe2140Leu)	NC_000011.9:g.108190751T>C	VUS	1 lab	7d34e7e884
1:40775800 COL9A2 C>T	1	40775800	40775800	C	T	COL9A2	c.775G>A	NM_001852.4	NP_001843.1:p.(Gly259Ser)	NC_000001.10:g.40775800C>T	VUS	1 lab	7d35909b36
14:105707698 BRF1 T>G	14	105707698	105707698	T	G	BRF1	c.598A>C	NM_001519.4	NP_001510.2:p.(Asn200His)	NC_000014.8:g.105707698T>G	VUS	1 lab	7d35bfabfd
16:70934913 HYDIN C>T	16	70934913	70934913	C	T	HYDIN	c.9042G>A	NM_001270974.2	NP_001257903.1:p.(Arg3014=)	NC_000016.9:g.70934913C>T	(Likely) benign	1 lab	7d36c21375
17:29664876 NF1 C>T	17	29664876	29664876	C	T	NF1	c.6619C>T	NM_000267.3	NP_000258.1:p.(Gln2207Ter)	NC_000017.10:g.29664876C>T	(Likely) pathogenic	1 lab	7d37723344
8:6479191 MCPH1 C>T	8	6479191	6479191	C	T	MCPH1	c.2431C>T	NM_024596.4	NP_078872.2:p.(Leu811=)	NC_000008.10:g.6479191C>T	(Likely) benign	1 lab	7d37ce9ec1
6:66205285 EYS C>T	6	66205285	66205285	C	T	EYS	c.19G>A	NM_001292009.1	NP_001278938.1:p.(Val7Ile)	NC_000006.11:g.66205285C>T	(Likely) benign	1 lab	7d38f8ff9c
10:73571731 CDH23 C>T	10	73571731	73571731	C	T	CDH23	c.9339C>T	NM_022124.5	NP_071407.4:p.(Asp3113=)	NC_000010.10:g.73571731C>T	(Likely) benign	1 lab	7d397d7c04
1:881805 NOC2L C>A	1	881805	881805	C	A	NOC2L	c.1780G>T	NM_015658.4	NP_056473.3:p.(Gly594Cys)	NC_000001.10:g.881805C>A	VUS	1 lab	7d39a93c77
2:86297186 POLR1A C>T	2	86297186	86297186	C	T	POLR1A	c.1821G>A	NM_015425.5	NP_056240.2:p.(Glu607=)	NC_000002.11:g.86297186C>T	(Likely) benign	1 lab	7d3a8341e7
21:38132135 HLCS T>C	21	38132135	38132135	T	C	HLCS	c.1688A>G	NM_001242784.2	NP_001229713.1:p.(Asn563Ser)	NC_000021.8:g.38132135T>C	(Likely) benign	1 lab	7d3c6b28b4
1:207649600 CR2 C>T	1	207649600	207649600	C	T	CR2	c.2738C>T	NM_001006658.2	NP_001006659.1:p.(Pro913Leu)	NC_000001.10:g.207649600C>T	VUS	1 lab	7d3d8bb142
8:10466562 RP1L1 G>A	8	10466562	10466562	G	A	RP1L1	c.5046C>T	NM_178857.5	NP_849188.4:p.(Pro1682=)	NC_000008.10:g.10466562G>A	(Likely) benign	1 lab	7d3dc8affb
10:69281639 CTNNA3 C>T	10	69281639	69281639	C	T	CTNNA3	c.540G>A	NM_013266.3	NP_037398.2:p.(Glu180=)	NC_000010.10:g.69281639C>T	(Likely) benign	1 lab	7d3e9fa3c6
19:17942525 JAK3 G>C	19	17942525	17942525	G	C	JAK3	c.2763C>G	NM_000215.3	NP_000206.2:p.(Leu921=)	NC_000019.9:g.17942525G>C	(Likely) benign	1 lab	7d3ebb2d28
22:29750757 AP1B1 A>G	22	29750757	29750757	A	G	AP1B1	c.820T>C	NM_001127.3	NP_001118.3:p.(Leu274=)	NC_000022.10:g.29750757A>G	(Likely) benign	1 lab	7d40a3d9cd
9:135203334 SETX C>T	9	135203334	135203334	C	T	SETX	c.3651G>A	NM_015046.5	NP_055861.3:p.(Thr1217=)	NC_000009.11:g.135203334C>T	(Likely) benign	1 lab	7d40e98856
7:1510255 INTS1 G>T	7	1510255	1510255	G	T	INTS1	c.6531C>A	NM_001080453.3	NP_001073922.2:p.(Ile2177=)	NC_000007.13:g.1510255G>T	(Likely) benign	1 lab	7d419c1544
8:21977933 HR C>T	8	21977933	21977933	C	T	HR	c.2698G>A	NM_005144.4	NP_005135.2:p.(Ala900Thr)	NC_000008.10:g.21977933C>T	(Likely) benign	1 lab	7d428687c1
13:77807291 MYCBP2 C>T	13	77807291	77807291	C	T	MYCBP2	c.2737G>A	NM_015057.4	NP_055872.4:p.(Asp913Asn)	NC_000013.10:g.77807291C>T	VUS	1 lab	7d428e9097
19:6372980 ALKBH7 G>A	19	6372980	6372980	G	A	ALKBH7	c.149G>A	NM_032306.4	NP_115682.1:p.(Arg50Gln)	NC_000019.9:g.6372980G>A	VUS	1 lab	7d434faea4
19:48626533 LIG1 G>A	19	48626533	48626533	G	A	LIG1	c.2044C>T	NM_001320970.1	NP_001307899.1:p.(Arg682Trp)	NC_000019.9:g.48626533G>A	VUS	1 lab	7d485cf843
16:85689981 GSE1 GGGAGCGCGAGCGCGAGCGCGAGCGTGAGCGTGAGGCTGACCGCGAGCGGGAGAAGGAACGTGAGCGCGAACGCGAGAAGGAGCGCGAGCAAGAGAAGGAGCGTGAGCGTGAGAA>G	16	85689981	85690112	GGGAGCGCGAGCGCGAGCGCGAGCGTGAGCGTGAGGCTGACCGCGAGCGGGAGAAGGAACGTGAGCGCGAACGCGAGAAGGAGCGCGAGCAAGAGAAGGAGCGTGAGCGTGAGAA	G	GSE1	c.1040_1153del	NM_014615.5	NP_055430.1:p.(Arg347_Glu384del)	NC_000016.9:g.85689999_85690112del	VUS	1 lab	f956c43bf5
2:189851842 COL3A1 C>T	2	189851842	189851842	C	T	COL3A1	c.505C>T	NM_000090.3	NP_000081.1:p.(Leu169Phe)	NC_000002.11:g.189851842C>T	(Likely) benign	1 lab	7d492988b2
1:237947248 RYR2 A>G	1	237947248	237947248	A	G	RYR2	c.12236A>G	NM_001035.2	NP_001026.2:p.(Asp4079Gly)	NC_000001.10:g.237947248A>G	VUS	1 lab	7d492c3d71
13:45911649 SNORA31 A>C	13	45911649	45911649	A	C	SNORA31	n.96T>G	NR_002967.1		NC_000013.10:g.45911649A>C	VUS	1 lab	f95984210f
1:17320185 ATP13A2 C>T	1	17320185	17320185	C	T	ATP13A2	c.1673G>A	NM_001141973.2	NP_001135445.1:p.(Arg558Gln)	NC_000001.10:g.17320185C>T	(Likely) benign	1 lab	7d4d4de385
1:228434395 OBSCN T>C	1	228434395	228434395	T	C	OBSCN	c.3924T>C	NM_052843.4	NP_443075.3:p.(Ala1308=)	NC_000001.10:g.228434395T>C	(Likely) benign	1 lab	f95b172477
X:152835113 ATP2B3 G>A	X	152835113	152835113	G	A	ATP2B3	c.3395G>A	NM_021949.3	NP_068768.2:p.(Arg1132His)	NC_000023.10:g.152835113G>A	(Likely) benign	1 lab	7d4d6597e9
7:150645598 KCNH2 C>T	7	150645598	150645598	C	T	KCNH2	c.2626G>A	NM_000238.4	NP_000229.1:p.(Glu876Lys)	NC_000007.13:g.150645598C>T	VUS	1 lab	f9614bb1b2
16:31160547 PRSS36 C>G	16	31160547	31160547	C	G	PRSS36	c.119G>C	NM_173502.4	NP_775773.2:p.(Arg40Pro)	NC_000016.9:g.31160547C>G	VUS	1 lab	7d4f76f43f
5:89971071 ADGRV1 T>C	5	89971071	89971071	T	C	ADGRV1	c.5122T>C	NM_032119.4	NP_115495.3:p.(Phe1708Leu)	NC_000005.9:g.89971071T>C	VUS	1 lab	7d5035a7aa
1:224621582 WDR26 C>T	1	224621582	224621582	C	T	WDR26	c.226G>A	NM_025160.6	NP_079436.4:p.(Val76Ile)	NC_000001.10:g.224621582C>T	(Likely) benign	1 lab	7d505de8b7
17:29586049 NF1 G>C	17	29586049	29586049	G	C	NF1	c.4270-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29586049G>C	(Likely) pathogenic	1 lab	7d50ecf3b1
9:139568253 AGPAT2 G>A	9	139568253	139568253	G	A	AGPAT2	c.788C>T	NM_006412.3	NP_006403.2:p.(Pro263Leu)	NC_000009.11:g.139568253G>A	VUS	1 lab	7d5122b24b
1:228522931 OBSCN C>T	1	228522931	228522931	C	T	OBSCN	c.19208C>T	NM_001271223.2	NP_001258152.2:p.(Thr6403Ile)	NC_000001.10:g.228522931C>T	VUS	1 lab	7d52425832
3:46009684 FYCO1 G>A	3	46009684	46009684	G	A	FYCO1	c.1142C>T	NM_024513.3	NP_078789.2:p.(Thr381Met)	NC_000003.11:g.46009684G>A	(Likely) benign	1 lab	7d59391290
15:31295126 TRPM1 G>A	15	31295126	31295126	G	A	TRPM1	c.3828C>T	NM_001252020.1	NP_001238949.1:p.(Ile1276=)	NC_000015.9:g.31295126G>A	(Likely) benign	1 lab	7d595fc607
9:124048450 GSN A>G	9	124048450	124048450	A	G	GSN	c.29A>G	NM_001258029.1	NP_001244958.1:p.(Asn10Ser)	NC_000009.11:g.124048450A>G	(Likely) benign	1 lab	7d596f839c
8:144990742 PLEC G>A	8	144990742	144990742	G	A	PLEC	c.13328C>T	NM_000445.5	NP_000436.2:p.(Thr4443Met)	NC_000008.10:g.144990742G>A	VUS	1 lab	f9722a0707
2:170058362 LRP2 G>A	2	170058362	170058362	G	A	LRP2	c.8228C>T	NM_004525.3	NP_004516.2:p.(Pro2743Leu)	NC_000002.11:g.170058362G>A	VUS	1 lab	7d5a76d4ee
11:72006545 CLPB C>T	11	72006545	72006545	C	T	CLPB	c.1567G>A	NM_030813.6	NP_110440.1:p.(Glu523Lys)	NC_000011.9:g.72006545C>T	VUS	1 lab	f973e834f0
10:73472432 CDH23 T>G	10	73472432	73472432	T	G	CDH23	c.3231T>G	NM_022124.5	NP_071407.4:p.(Pro1077=)	NC_000010.10:g.73472432T>G	VUS	1 lab	7d5b9e1e27
7:92147459 PEX1 T>C	7	92147459	92147459	T	C	PEX1	c.468A>G	NM_000466.2	NP_000457.1:p.(Gln156=)	NC_000007.13:g.92147459T>C	(Likely) benign	1 lab	7d5e6ec2e3
13:32954236 BRCA2 T>C	13	32954236	32954236	T	C	BRCA2	c.9210T>C	NM_000059.3	NP_000050.2:p.(Ser3070=)	NC_000013.10:g.32954236T>C	(Likely) benign	1 lab	7d60020f6a
X:68059812 EFNB1 C>T	X	68059812	68059812	C	T	EFNB1	c.509C>T	NM_004429.4	NP_004420.1:p.(Ala170Val)	NC_000023.10:g.68059812C>T	(Likely) benign	1 lab	7d610699d8
17:16843761 TNFRSF13B G>T	17	16843761	16843761	G	T	TNFRSF13B	c.510C>A	NM_012452.2	NP_036584.1:p.(Cys170Ter)	NC_000017.10:g.16843761G>T	(Likely) pathogenic	1 lab	7d611ed2e0
8:100454642 VPS13B C>T	8	100454642	100454642	C	T	VPS13B	c.3224C>T	NM_017890.4	NP_060360.3:p.(Ser1075Phe)	NC_000008.10:g.100454642C>T	VUS	1 lab	7d61cba34c
3:53222739 PRKCD C>T	3	53222739	53222739	C	T	PRKCD	c.1419C>T	NM_006254.4	NP_006245.2:p.(Asp473=)	NC_000003.11:g.53222739C>T	(Likely) benign	1 lab	7d61cf0b2c
18:61030065 KDSR C>A	18	61030065	61030065	C	A	KDSR	c.145G>T	NM_002035.4	NP_002026.1:p.(Ala49Ser)	NC_000018.9:g.61030065C>A	VUS	1 lab	7d639f023c
9:15182335 TTC39B C>T	9	15182335	15182335	C	T	TTC39B	c.1693G>A	NM_152574.2	NP_689787.2:p.(Glu565Lys)	NC_000009.11:g.15182335C>T	VUS	1 lab	7d641f670f
17:17699777 RAI1 G>A	17	17699777	17699777	G	A	RAI1	c.3515G>A	NM_030665.3	NP_109590.3:p.(Arg1172His)	NC_000017.10:g.17699777G>A	(Likely) benign	1 lab	7d653248e7
21:43277421 PRDM15 T>C	21	43277421	43277421	T	C	PRDM15	c.260A>G	NM_001282934.1	NP_001269863.1:p.(Asn87Ser)	NC_000021.8:g.43277421T>C	(Likely) benign	1 lab	7d6615e48e
1:231386754 GNPAT G>T	1	231386754	231386754	G	T	GNPAT	c.126G>T	NM_014236.3	NP_055051.1:p.(Arg42Ser)	NC_000001.10:g.231386754G>T	VUS	1 lab	7d67c0aa3a
9:140002018 MAN1B1 C>T	9	140002018	140002018	C	T	MAN1B1	c.1800C>T	NM_016219.4	NP_057303.2:p.(Thr600=)	NC_000009.11:g.140002018C>T	(Likely) benign	1 lab	7d683ba3b2
11:17653443 OTOG C>T	11	17653443	17653443	C	T	OTOG	c.6943C>T	NM_001277269.1	NP_001264198.1:p.(Arg2315Cys)	NC_000011.9:g.17653443C>T	VUS	1 lab	7d684a2b32
16:70894592 HYDIN C>T	16	70894592	70894592	C	T	HYDIN	c.11990G>A	NM_001270974.2	NP_001257903.1:p.(Arg3997Gln)	NC_000016.9:g.70894592C>T	VUS	1 lab	7d6869af16
19:43242923 PSG3 C>A	19	43242923	43242923	C	A	PSG3	c.383G>T	NM_021016.4	NP_066296.2:p.(Gly128Val)	NC_000019.9:g.43242923C>A	(Likely) benign	1 lab	7d6906c507
2:130929931 SMPD4 G>A	2	130929931	130929931	G	A	SMPD4	c.767C>T	NM_017951.4	NP_060421.2:p.(Pro256Leu)	NC_000002.11:g.130929931G>A	VUS	1 lab	7d6a5fff42
2:202625856 ALS2 T>C	2	202625856	202625856	T	C	ALS2	c.861A>G	NM_020919.3	NP_065970.2:p.(Glu287=)	NC_000002.11:g.202625856T>C	(Likely) benign	1 lab	7d6aa959db
6:33133537 COL11A2 C>T	6	33133537	33133537	C	T	COL11A2	c.4539G>A	NM_080680.2	NP_542411.2:p.(Arg1513=)	NC_000006.11:g.33133537C>T	(Likely) benign	1 lab	7d6b17a8e3
1:237955485 RYR2 C>T	1	237955485	237955485	C	T	RYR2	c.13644C>T	NM_001035.3	NP_001026.2:p.(Asp4548=)	NC_000001.10:g.237955485C>T	(Likely) benign	1 lab	f97ead1f45
1:984793 AGRN C>T	1	984793	984793	C	T	AGRN	c.4476C>T	NM_001305275.2	NP_001292204.1:p.(Asp1492=)	NC_000001.10:g.984793C>T	(Likely) benign	1 lab	7d6fdfc34d
12:52965240 KRT74 T>C	12	52965240	52965240	T	C	KRT74	c.748-2A>G	NM_175053.3	NP_778223.2:p.?	NC_000012.11:g.52965240T>C	VUS	1 lab	7d70440d25
7:73483016 ELN C>T	7	73483016	73483016	C	T	ELN	c.2347C>T	NM_001278939.2	NP_001265868.1:p.(Arg783Trp)	NC_000007.13:g.73483016C>T	VUS	1 lab	f97edfb125
11:17170291 PIK3C2A C>A	11	17170291	17170291	C	A	PIK3C2A	c.1371G>T	NM_001321378.1	NP_001308307.1:p.(Trp457Cys)	NC_000011.9:g.17170291C>A	VUS	1 lab	7d748fd7da
2:179636156 TTN T>G	2	179636156	179636156	T	G	TTN	c.7898A>C	NM_001267550.2	NP_001254479.2:p.(Glu2633Ala)	NC_000002.11:g.179636156T>G	VUS	1 lab	f97ee5b0a2
5:56778396 ACTBL2 C>T	5	56778396	56778396	C	T	ACTBL2	c.139G>A	NM_001017992.4	NP_001017992.1:p.(Gly47Ser)	NC_000005.9:g.56778396C>T	VUS	1 lab	7d75b35d5d
17:74289894 QRICH2 T>C	17	74289894	74289894	T	C	QRICH2	c.416A>G	NM_032134.2	NP_115510.1:p.(Lys139Arg)	NC_000017.10:g.74289894T>C	(Likely) benign	1 lab	7d77f15a7b
6:152599393 SYNE1 T>C	6	152599393	152599393	T	C	SYNE1	c.18404A>G	NM_182961.3	NP_892006.3:p.(Gln6135Arg)	NC_000006.11:g.152599393T>C	VUS	1 lab	7d78619a0a
5:90079770 ADGRV1 A>G	5	90079770	90079770	A	G	ADGRV1	c.13549A>G	NM_032119.4	NP_115495.3:p.(Ile4517Val)	NC_000005.9:g.90079770A>G	(Likely) benign	1 lab	7d794e829c
X:63412860 AMER1 C>T	X	63412860	63412860	C	T	AMER1	c.307G>A	NM_152424.4	NP_689637.3:p.(Ala103Thr)	NC_000023.10:g.63412860C>T	(Likely) benign	1 lab	7d79bbb75b
10:105166424 PDCD11 C>T	10	105166424	105166424	C	T	PDCD11	c.747C>T	NM_014976.2	NP_055791.1:p.(Asn249=)	NC_000010.10:g.105166424C>T	(Likely) benign	1 lab	7d7a83057d
19:2249583 AMH G>A	19	2249583	2249583	G	A	AMH	c.252G>A	NM_000479.4	NP_000470.2:p.(Leu84=)	NC_000019.9:g.2249583G>A	(Likely) benign	1 lab	7d7cb34eb3
17:29664557 NF1 CA>C	17	29664557	29664558	CA	C	NF1	c.6600del	NM_001042492.3	NP_001035957.1:p.(Ser2201ProfsTer17)	NC_000017.10:g.29664558del	(Likely) pathogenic	1 lab	7d7e4b8784
8:48801791 PRKDC AGATT>A	8	48801791	48801796	AGATT	A	PRKDC	c.4072-12_4072-9del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48801793_48801796del	(Likely) benign	1 lab	7d7ee69979
15:100273589 LYSMD4 T>TCGCGACC	15	100273589	100273613	T	TCGCGACC	LYSMD4	c.53_59dup	NM_001284420.1	NP_001271349.1:p.(Gly23SerfsTer13)	NC_000015.9:g.100273607_100273613dup	(Likely) pathogenic	1 lab	7d7f4d8d5a
14:104642069 KIF26A G>T	14	104642069	104642069	G	T	KIF26A	c.2944G>T	NM_015656.2	NP_056471.1:p.(Val982Leu)	NC_000014.8:g.104642069G>T	VUS	1 lab	f9828aba94
13:32945109 BRCA2 C>G	13	32945109	32945109	C	G	BRCA2	c.8504C>G	NM_000059.3	NP_000050.2:p.(Ser2835Ter)	NC_000013.10:g.32945109C>G	(Likely) pathogenic	1 lab	7d800db97b
17:29556459 NF1 C>CA	17	29556459	29556461	C	CA	NF1	c.2828dup	NM_000267.3	NP_000258.1:p.(Phe944ValfsTer3)	NC_000017.10:g.29556461dup	(Likely) pathogenic	1 lab	7d81bc3aff
3:25635017 RARB T>C	3	25635017	25635017	T	C	RARB	c.831T>C	NM_001290216.2	NP_001277145.1:p.(Tyr277=)	NC_000003.11:g.25635017T>C	(Likely) benign	1 lab	7d84eef84f
12:102074276 MYBPC1 A>G	12	102074276	102074276	A	G	MYBPC1	c.3402A>G	NM_002465.3	NP_002456.2:p.(Thr1134=)	NC_000012.11:g.102074276A>G	(Likely) benign	1 lab	7d8660c43b
19:2115304 AP3D1 G>A	19	2115304	2115304	G	A	AP3D1	c.2263C>T	NM_001261826.3	NP_001248755.1:p.(Arg755Cys)	NC_000019.9:g.2115304G>A	VUS	1 lab	7d86dc450c
X:48887958 TFE3 C>T	X	48887958	48887958	C	T	TFE3	c.1439G>A	NM_006521.5	NP_006512.2:p.(Gly480Glu)	NC_000023.10:g.48887958C>T	(Likely) benign	1 lab	7d87468c1e
3:38936257 SCN11A C>G	3	38936257	38936257	C	G	SCN11A	c.2602G>C	NM_001349253.1	NP_001336182.1:p.(Glu868Gln)	NC_000003.11:g.38936257C>G	VUS	1 lab	7d88f08b5b
6:56479145 DST T>C	6	56479145	56479145	T	C	DST	c.4959+9A>G	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56479145T>C	(Likely) benign	1 lab	7d8aa5da02
X:65835841 EDA2R A>G	X	65835841	65835841	A	G	EDA2R	c.22T>C	NM_001199687.2	NP_001186616.1:p.(Tyr8His)	NC_000023.10:g.65835841A>G	(Likely) benign	1 lab	7d8ad68bb9
17:16203192 PIGL T>G	17	16203192	16203192	T	G	PIGL	c.336-10T>G	NM_004278.3	NP_004269.1:p.?	NC_000017.10:g.16203192T>G	(Likely) benign	1 lab	7d8b76aba9
11:9838488 SBF2 T>C	11	9838488	9838488	T	C	SBF2	c.3877A>G	NM_030962.3	NP_112224.1:p.(Lys1293Glu)	NC_000011.9:g.9838488T>C	(Likely) benign	1 lab	7d8bf15547
2:241814576 AGXT T>C	2	241814576	241814576	T	C	AGXT	c.731T>C	NM_000030.3	NP_000021.1:p.(Ile244Thr)	NC_000002.11:g.241814576T>C	(Likely) pathogenic	1 lab	f9885bc035
4:15581684 CC2D2A A>G	4	15581684	15581684	A	G	CC2D2A	c.3865A>G	NM_001080522.2	NP_001073991.2:p.(Thr1289Ala)	NC_000004.11:g.15581684A>G	VUS	1 lab	7d9006fb67
7:21939627 DNAH11 G>C	7	21939627	21939627	G	C	DNAH11				NC_000007.13:g.21939627G>C	VUS	1 lab	7d91558309
10:5966387 FBH1 G>A	10	5966387	5966387	G	A	FBH1	c.2665G>A	NM_032807.4	NP_116196.3:p.(Ala889Thr)	NC_000010.10:g.5966387G>A	VUS	1 lab	7d91dfebdf
17:4443757 MYBBP1A A>AC	17	4443757	4443759	A	AC	MYBBP1A	c.3319dup	NM_014520.3	NP_055335.2:p.(Val1107GlyfsTer61)	NC_000017.10:g.4443759dup	VUS	1 lab	7d9323deae
17:2577557 PAFAH1B1 C>T	17	2577557	2577557	C	T	PAFAH1B1	c.875C>T	NM_000430.4	NP_000421.1:p.(Ser292Phe)	NC_000017.10:g.2577557C>T	VUS	1 lab	f9903baf1f
14:23346517 LRP10 G>A	14	23346517	23346517	G	A	LRP10	c.1923G>A	NM_014045.4	NP_054764.2:p.(Leu641=)	NC_000014.8:g.23346517G>A	(Likely) benign	1 lab	7d9c9c6e37
11:48170992 PTPRJ A>G	11	48170992	48170992	A	G	PTPRJ	c.3000-7A>G	NM_002843.3	NP_002834.3:p.?	NC_000011.9:g.48170992A>G	(Likely) benign	1 lab	7d9460ae33
21:45499999 TRAPPC10 G>C	21	45499999	45499999	G	C	TRAPPC10	c.1714G>C	NM_003274.4	NP_003265.3:p.(Asp572His)	NC_000021.8:g.45499999G>C	(Likely) benign	1 lab	7d9543545b
16:57688037 ADGRG1 CG>C	16	57688037	57688039	CG	C	ADGRG1	c.762del	NM_201525.4	NP_958933.1:p.(Gln255ArgfsTer68)	NC_000016.9:g.57688039del	(Likely) pathogenic	1 lab	7d964ef0b3
11:73753253 C2CD3 T>C	11	73753253	73753253	T	C	C2CD3	c.5506A>G	NM_001286577.1	NP_001273506.1:p.(Thr1836Ala)	NC_000011.9:g.73753253T>C	(Likely) benign	1 lab	7d967d7956
10:50724408 ERCC6 G>A	10	50724408	50724408	G	A	ERCC6	c.2157C>T	NM_001277058.1	NP_001263987.1:p.(Ser719=)	NC_000010.10:g.50724408G>A	(Likely) benign	1 lab	7d972fa0f3
18:34298002 FHOD3 C>G	18	34298002	34298002	C	G	FHOD3	c.2741C>G	NM_001281740.2	NP_001268669.1:p.(Ala914Gly)	NC_000018.9:g.34298002C>G	(Likely) benign	1 lab	7d97bf8e7a
2:198570186 MARS2 T>C	2	198570186	198570186	T	C	MARS2	c.57T>C	NM_138395.3	NP_612404.1:p.(Ser19=)	NC_000002.11:g.198570186T>C	(Likely) benign	1 lab	7d9a22cb18
11:64444504 NRXN2 T>C	11	64444504	64444504	T	C	NRXN2	c.1158A>G	NM_015080.3	NP_055895.1:p.(Ala386=)	NC_000011.9:g.64444504T>C	(Likely) benign	1 lab	7d9ae63b1f
19:11332551 DOCK6 A>G	19	11332551	11332551	A	G	DOCK6	c.3526T>C	NM_020812.3	NP_065863.2:p.(Leu1176=)	NC_000019.9:g.11332551A>G	(Likely) benign	1 lab	7d9b035ba7
19:14938958 OR7A5 C>T	19	14938958	14938958	C	T	OR7A5	c.96G>A	NM_017506.1	NP_059976.1:p.(Leu32=)	NC_000019.9:g.14938958C>T	(Likely) benign	1 lab	7d9b194dbc
14:102496580 DYNC1H1 C>G	14	102496580	102496580	C	G	DYNC1H1	c.9844C>G	NM_001376.4	NP_001367.2:p.(Leu3282Val)	NC_000014.8:g.102496580C>G	VUS	1 lab	7d9bf72441
17:18055163 MYO15A G>A	17	18055163	18055163	G	A	MYO15A	c.7791G>A	NM_016239.3	NP_057323.3:p.(Lys2597=)	NC_000017.10:g.18055163G>A	VUS	1 lab	7d9ccbf522
5:161580296 GABRG2 C>T	5	161580296	161580296	C	T	GABRG2	c.1470C>T	NM_198903.2	NP_944493.2:p.(Asp490=)	NC_000005.9:g.161580296C>T	(Likely) benign	1 lab	7d9f65d44e
14:68117590 ARG2 C>T	14	68117590	68117590	C	T	ARG2	c.1018C>T	NM_001172.3	NP_001163.1:p.(Pro340Ser)	NC_000014.8:g.68117590C>T	VUS	1 lab	7da0425d75
1:41475268 CTPS1 G>A	1	41475268	41475268	G	A	CTPS1	c.1691+7G>A	NM_001905.4	NP_001896.2:p.?	NC_000001.10:g.41475268G>A	(Likely) benign	1 lab	7da08737d2
8:48732072 PRKDC C>A	8	48732072	48732072	C	A	PRKDC	c.9337-1G>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48732072C>A	VUS	1 lab	7da196e101
X:150349711 GPR50 C>A	X	150349711	150349711	C	A	GPR50	c.1656C>A	NM_004224.3	NP_004215.2:p.(His552Gln)	NC_000023.10:g.150349711C>A	(Likely) benign	1 lab	7da1d2e38f
20:33583145 MYH7B G>C	20	33583145	33583145	G	C	MYH7B	c.2833G>C	NM_020884.4	NP_065935.3:p.(Asp945His)	NC_000020.10:g.33583145G>C	VUS	1 lab	7da29cfa50
17:44249437 KANSL1 G>C	17	44249437	44249437	G	C	KANSL1	c.73C>G	NM_001193466.1	NP_001180395.1:p.(Pro25Ala)	NC_000017.10:g.44249437G>C	VUS	1 lab	7da59b42c3
14:23889399 MYH7 G>A	14	23889399	23889399	G	A	MYH7	c.3381C>T	NM_000257.2	NP_000248.2:p.(Thr1127=)	NC_000014.8:g.23889399G>A	(Likely) benign	1 lab	7da602d5d3
12:39726716 KIF21A G>A	12	39726716	39726716	G	A	KIF21A	c.2681C>T	NM_001173464.1	NP_001166935.1:p.(Thr894Met)	NC_000012.11:g.39726716G>A	(Likely) benign	1 lab	7da7e6ef76
15:57524580 TCF12 CAT>C	15	57524580	57524582	CAT	C	TCF12	c.778_779del	NM_207037.2	NP_996920.1:p.(Met260ValfsTer5)	NC_000015.9:g.57524581_57524582del	(Likely) pathogenic	1 lab	7da8065691
16:90001600 TUBB3 C>T	16	90001600	90001600	C	T	TUBB3	c.741C>T	NM_006086.4	NP_006077.2:p.(Asn247=)	NC_000016.9:g.90001600C>T	(Likely) benign	1 lab	7da969ad24
15:101109808 LINS1 C>T	15	101109808	101109808	C	T	LINS1	c.1162G>A	NM_001352507.1	NP_001339436.1:p.(Val388Met)	NC_000015.9:g.101109808C>T	(Likely) benign	1 lab	7dacd28a8f
19:57723831 ZNF264 G>T	19	57723831	57723831	G	T	ZNF264	c.1366G>T	NM_003417.4	NP_003408.1:p.(Glu456Ter)	NC_000019.9:g.57723831G>T	VUS	1 lab	7dad84b570
1:232172514 DISC1 G>A	1	232172514	232172514	G	A	DISC1	c.2598G>A	NM_001164537.1	NP_001158009.1:p.(Glu866=)	NC_000001.10:g.232172514G>A	(Likely) benign	1 lab	7dae8fd1f3
X:63569887 MTMR8 C>T	X	63569887	63569887	C	T	MTMR8	c.532G>A	NM_017677.3	NP_060147.2:p.(Gly178Arg)	NC_000023.10:g.63569887C>T	VUS	1 lab	7dafa328a8
12:7362425 PEX5 C>T	12	7362425	7362425	C	T	PEX5	c.1707C>T	NM_001131025.1	NP_001124497.1:p.(Leu569=)	NC_000012.11:g.7362425C>T	(Likely) benign	1 lab	7dafdfdbce
17:16347379 LRRC75A G>A	17	16347379	16347379	G	A	LRRC75A	c.558C>T	NM_001113567.2	NP_001107039.1:p.(Thr186=)	NC_000017.10:g.16347379G>A	(Likely) benign	1 lab	7db38f0ab3
15:48707827 FBN1 C>T	15	48707827	48707827	C	T	FBN1	c.7957G>A	NM_000138.4	NP_000129.3:p.(Gly2653Ser)	NC_000015.9:g.48707827C>T	VUS	1 lab	7db56aafb6
20:61458159 COL9A3 C>T	20	61458159	61458159	C	T	COL9A3	c.779C>T	NM_001853.4	NP_001844.3:p.(Ala260Val)	NC_000020.10:g.61458159C>T	(Likely) benign	1 lab	7db58f01c3
7:150873298 ASB10 G>A	7	150873298	150873298	G	A	ASB10	c.1191C>T	NM_001142460.1	NP_001135932.2:p.(Ser397=)	NC_000007.13:g.150873298G>A	(Likely) benign	1 lab	7db604ad8c
7:5568810 ACTB G>A	7	5568810	5568810	G	A	ACTB	c.345C>T	NM_001101.3	NP_001092.1:p.(Asn115=)	NC_000007.13:g.5568810G>A	(Likely) benign	1 lab	7db68797ba
1:1853783 CFAP74 C>T	1	1853783	1853783	C	T	CFAP74	c.4863G>A	NM_001304360.2	NP_001291289.1:p.(Gly1621=)	NC_000001.10:g.1853783C>T	(Likely) benign	1 lab	7db7454d53
X:63444307 ASB12 G>A	X	63444307	63444307	G	A	ASB12	c.865C>T	NM_130388.3	NP_569059.3:p.(Arg289Cys)	NC_000023.10:g.63444307G>A	VUS	1 lab	7db95c2511
6:33138140 COL11A2 G>T	6	33138140	33138140	G	T	COL11A2	c.3545C>A	NM_080680.2	NP_542411.2:p.(Pro1182Gln)	NC_000006.11:g.33138140G>T	VUS	1 lab	7dbbaec96f
1:216074162 USH2A G>A	1	216074162	216074162	G	A	USH2A	c.7386C>T	NM_206933.2	NP_996816.2:p.(Asn2462=)	NC_000001.10:g.216074162G>A	(Likely) benign	1 lab	7dbdf72cca
X:86888860 KLHL4 C>A	X	86888860	86888860	C	A	KLHL4	c.1661C>A	NM_019117.4	NP_061990.2:p.(Ala554Asp)	NC_000023.10:g.86888860C>A	VUS	1 lab	7dbf98e4c7
X:9912952 SHROOM2 G>A	X	9912952	9912952	G	A	SHROOM2	c.4583G>A	NM_001649.3	NP_001640.1:p.(Arg1528Gln)	NC_000023.10:g.9912952G>A	(Likely) benign	1 lab	7dc05931c4
2:172291088 DCAF17 A>T	2	172291088	172291088	A	T	DCAF17	c.1A>T	NM_025000.3	NP_079276.2:p.(Met1?)	NC_000002.11:g.172291088A>T	(Likely) pathogenic	1 lab	7dc10e0fbd
17:38450744 CDC6 C>T	17	38450744	38450744	C	T	CDC6	c.1072C>T	NM_001254.4	NP_001245.1:p.(Arg358Ter)	NC_000017.10:g.38450744C>T	VUS	1 lab	7dc1303dcb
13:23910290 SACS T>A	13	23910290	23910290	T	A	SACS	c.7725A>T	NM_014363.5	NP_055178.3:p.(Ile2575=)	NC_000013.10:g.23910290T>A	(Likely) benign	1 lab	7dc144d01d
10:122659623 WDR11 A>T	10	122659623	122659623	A	T	WDR11	c.2598A>T	NM_018117.11	NP_060587.8:p.(Gly866=)	NC_000010.10:g.122659623A>T	VUS	1 lab	7dc14b4fbd
15:89753577 RLBP1 C>T	15	89753577	89753577	C	T	RLBP1	c.893G>A	NM_000326.4	NP_000317.1:p.(Gly298Asp)	NC_000015.9:g.89753577C>T	(Likely) pathogenic	1 lab	7dc2300e7e
7:154379702 MISSING G>A	7	154379702	154379702	G	A	MISSING				NC_000007.13:g.154379702G>A	(Likely) benign	1 lab	7dc33b7908
5:40950020 C7 G>A	5	40950020	40950020	G	A	C7	c.997G>A	NM_000587.2	NP_000578.2:p.(Glu333Lys)	NC_000005.9:g.40950020G>A	VUS	1 lab	7dc4200f25
16:81157361 MISSING A>G	16	81157361	81157361	A	G	MISSING				NC_000016.9:g.81157361A>G	VUS	1 lab	7dc45ef0b1
19:3977471 EEF2 G>A	19	3977471	3977471	G	A	EEF2	c.2205C>T	NM_001961.3	NP_001952.1:p.(Thr735=)	NC_000019.9:g.3977471G>A	(Likely) benign	1 lab	7dc4ba3a03
19:2191215 DOT1L G>A	19	2191215	2191215	G	A	DOT1L	c.469G>A	NM_032482.2	NP_115871.1:p.(Asp157Asn)	NC_000019.9:g.2191215G>A	VUS	1 lab	7fcb7c42a3
3:4699898 ITPR1 G>A	3	4699898	4699898	G	A	ITPR1	c.1042G>A	NM_001168272.1	NP_001161744.1:p.(Asp348Asn)	NC_000003.11:g.4699898G>A	VUS	1 lab	7dc586e9db
5:75596672 SV2C C>T	5	75596672	75596672	C	T	SV2C	c.1755C>T	NM_014979.4	NP_055794.3:p.(Val585=)	NC_000005.9:g.75596672C>T	(Likely) benign	1 lab	7dc603e754
13:103504549 ERCC5 C>T	13	103504549	103504549	C	T	ERCC5	c.170C>T	NM_000123.3	NP_000114.2:p.(Thr57Ile)	NC_000013.10:g.103504549C>T	VUS	1 lab	7dc6052644
3:141499540 GRK7 G>A	3	141499540	141499540	G	A	GRK7	c.937G>A	NM_139209.2	NP_631948.1:p.(Val313Ile)	NC_000003.11:g.141499540G>A	(Likely) benign	1 lab	7dc6823660
3:128615335 ACAD9 G>A	3	128615335	128615335	G	A	ACAD9	c.510G>A	NM_014049.4	NP_054768.2:p.(Ala170=)	NC_000003.11:g.128615335G>A	(Likely) benign	1 lab	7dc73d0531
12:21997874 ABCC9 C>T	12	21997874	21997874	C	T	ABCC9	c.3097-25G>A	NM_020297.2	NP_064693.2:p.?	NC_000012.11:g.21997874C>T	(Likely) benign	1 lab	7dc7d96534
X:36317253 CFAP47 C>G	X	36317253	36317253	C	G	CFAP47	c.7848C>G	NM_001304548.1	NP_001291477.1:p.(Gly2616=)	NC_000023.10:g.36317253C>G	(Likely) benign	1 lab	7dc93871e1
X:100541611 TAF7L G>A	X	100541611	100541611	G	A	TAF7L	c.355C>T	NM_024885.3	NP_079161.3:p.(Arg119Cys)	NC_000023.10:g.100541611G>A	(Likely) benign	1 lab	7dcc72b84a
13:28622551 FLT3 T>C	13	28622551	28622551	T	C	FLT3	c.1066A>G	NM_004119.2	NP_004110.2:p.(Ser356Gly)	NC_000013.10:g.28622551T>C	VUS	1 lab	7dcd8d53b5
16:2134253 TSC2 G>T	16	2134253	2134253	G	T	TSC2	c.4030G>T	NM_000548.3	NP_000539.2:p.(Glu1344Ter)	NC_000016.9:g.2134253G>T	(Likely) pathogenic	1 lab	7dd14f07ed
19:38633309 SIPA1L3 C>G	19	38633309	38633309	C	G	SIPA1L3	c.3492C>G	NM_015073.2	NP_055888.1:p.(Pro1164=)	NC_000019.9:g.38633309C>G	(Likely) benign	1 lab	7dd1fd386f
9:135802648 TSC1 CA>C	9	135802648	135802649	CA	C	TSC1	c.149del	NM_000368.5	NP_000359.1:p.(Leu50ArgfsTer12)	NC_000009.11:g.135802649del	(Likely) pathogenic	1 lab	7dd2275a91
4:6303206 WFS1 G>A	4	6303206	6303206	G	A	WFS1	c.1684G>A	NM_006005.3	NP_005996.2:p.(Gly562Ser)	NC_000004.11:g.6303206G>A	VUS	1 lab	7dd3d14cbd
8:10468345 RP1L1 G>A	8	10468345	10468345	G	A	RP1L1	c.3263C>T	NM_178857.5	NP_849188.4:p.(Ala1088Val)	NC_000008.10:g.10468345G>A	VUS	1 lab	7dd85e6b88
1:110172980 AMPD2 C>T	1	110172980	110172980	C	T	AMPD2	c.2271C>T	NM_001257360.1	NP_001244289.1:p.(Leu757=)	NC_000001.10:g.110172980C>T	(Likely) benign	1 lab	7dd8a706ec
X:118109454 LONRF3 T>G	X	118109454	118109454	T	G	LONRF3	c.711T>G	NM_001031855.2	NP_001027026.1:p.(Phe237Leu)	NC_000023.10:g.118109454T>G	VUS	1 lab	7dd8b81b54
11:76867784 MYO7A G>A	11	76867784	76867784	G	A	MYO7A	c.549G>A	NM_000260.3	NP_000251.3:p.(Ser183=)	NC_000011.9:g.76867784G>A	(Likely) benign	1 lab	7dd9dda978
10:118315509 PNLIP A>G	10	118315509	118315509	A	G	PNLIP	c.812-3A>G	NM_000936.3	NP_000927.1:p.?	NC_000010.10:g.118315509A>G	VUS	1 lab	7ddaf27c03
2:179482943 TTN T>G	2	179482943	179482943	T	G	TTN	c.47242A>C	NM_001267550.1	NP_001254479.1:p.(Asn15748His)	NC_000002.11:g.179482943T>G	VUS	1 lab	7ddd257a66
3:180377471 CCDC39 G>A	3	180377471	180377471	G	A	CCDC39	c.603C>T	NM_181426.2	NP_852091.1:p.(Ser201=)	NC_000003.11:g.180377471G>A	(Likely) benign	1 lab	7ddda4a3df
22:32239806 DEPDC5 A>G	22	32239806	32239806	A	G	DEPDC5	c.2801+8A>G	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32239806A>G	(Likely) benign	1 lab	7dddb1c433
10:101591885 ABCC2 C>T	10	101591885	101591885	C	T	ABCC2	c.3255C>T	NM_000392.5	NP_000383.2:p.(Ala1085=)	NC_000010.10:g.101591885C>T	(Likely) benign	1 lab	7dddc7a872
7:4839025 RADIL C>T	7	4839025	4839025	C	T	RADIL	c.3212G>A	NM_018059.4	NP_060529.4:p.(Arg1071His)	NC_000007.13:g.4839025C>T	(Likely) benign	1 lab	7de0296708
17:29552206 NF1 CATGAAGA>C	17	29552206	29552215	CATGAAGA	C	NF1	c.1942_1948del	NM_001042492.3	NP_001035957.1:p.(Glu648TyrfsTer38)	NC_000017.10:g.29552209_29552215del	(Likely) pathogenic	1 lab	7de0a78081
11:76867109 MYO7A A>G	11	76867109	76867109	A	G	MYO7A	c.442A>G	NM_000260.3	NP_000251.3:p.(Asn148Asp)	NC_000011.9:g.76867109A>G	VUS	1 lab	7de1280143
15:28230313 OCA2 G>A	15	28230313	28230313	G	A	OCA2	c.1261C>T	NM_000275.2	NP_000266.2:p.(Arg421Trp)	NC_000015.9:g.28230313G>A	VUS	1 lab	7de32b0e38
10:78761249 KCNMA1 C>T	10	78761249	78761249	C	T	KCNMA1	c.2182G>A	NM_001161352.2	NP_001154824.1:p.(Val728Met)	NC_000010.10:g.78761249C>T	VUS	1 lab	7de6fcdd7d
17:39739558 KRT14 C>T	17	39739558	39739558	C	T	KRT14	c.1203G>A	NM_000526.4	NP_000517.2:p.(Leu401=)	NC_000017.10:g.39739558C>T	(Likely) benign	1 lab	7de78548d5
15:43909941 STRC T>A	15	43909941	43909941	T	A	STRC	c.678A>T	NM_153700.2	NP_714544.1:p.(Thr226=)	NC_000015.9:g.43909941T>A	(Likely) benign	1 lab	7de967e520
7:5569196 ACTB G>A	7	5569196	5569196	G	A	ACTB	c.93C>T	NM_001101.3	NP_001092.1:p.(Phe31=)	NC_000007.13:g.5569196G>A	(Likely) benign	1 lab	7de9a73611
17:29527439 NF1 GA>G	17	29527439	29527441	GA	G	NF1	c.890del	NM_001042492.3	NP_001035957.1:p.(Lys297SerfsTer20)	NC_000017.10:g.29527441del	(Likely) pathogenic	1 lab	7deaa97c96
X:38226549 OTC G>A	X	38226549	38226549	G	A	OTC	c.83G>A	NM_000531.5	NP_000522.3:p.(Gly28Glu)	NC_000023.10:g.38226549G>A	(Likely) benign	1 lab	7deb460ca2
2:179536889 TTN G>A	2	179536889	179536889	G	A	TTN	c.35036C>T	NM_001267550.1	NP_001254479.1:p.(Pro11679Leu)	NC_000002.11:g.179536889G>A	VUS	1 lab	7deb5b503d
9:127255361 NR5A1 C>T	9	127255361	127255361	C	T	NR5A1	c.938G>A	NM_004959.4	NP_004950.2:p.(Arg313His)	NC_000009.11:g.127255361C>T	(Likely) pathogenic	1 lab	7dec410e64
13:114535377 GAS6 G>A	13	114535377	114535377	G	A	GAS6	c.1038C>T	NM_000820.3	NP_000811.1:p.(Ile346=)	NC_000013.10:g.114535377G>A	(Likely) benign	1 lab	7ded5b1d7f
16:2108787 TSC2 G>A	16	2108787	2108787	G	A	TSC2	c.888G>A	NM_000548.3	NP_000539.2:p.(Val296=)	NC_000016.9:g.2108787G>A	(Likely) benign	1 lab	7ded8d7771
5:6623405 NSUN2 GA>G	5	6623405	6623417	GA	G	NSUN2	c.466-8del	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6623417del	(Likely) benign	1 lab	7deebf7889
1:23346372 KDM1A A>AC	1	23346372	23346377	A	AC	KDM1A	c.288dup	NM_001009999.2	NP_001009999.1:p.(Met97HisfsTer29)	NC_000001.10:g.23346377dup	VUS	1 lab	7def930360
6:31601344 PRRC2A T>C	6	31601344	31601344	T	C	PRRC2A	c.4508T>C	NM_004638.3	NP_004629.3:p.(Leu1503Pro)	NC_000006.11:g.31601344T>C	(Likely) benign	1 lab	7df14f0cb2
1:152281058 FLG A>G	1	152281058	152281058	A	G	FLG	c.6304T>C	NM_002016.1	NP_002007.1:p.(Ser2102Pro)	NC_000001.10:g.152281058A>G	VUS	1 lab	7df1b9c973
5:73981274 HEXB G>A	5	73981274	73981274	G	A	HEXB	c.189G>A	NM_000521.3	NP_000512.1:p.(Val63=)	NC_000005.9:g.73981274G>A	(Likely) benign	1 lab	7df1bdd32b
21:46908349 COL18A1 G>A	21	46908349	46908349	G	A	COL18A1	c.1914G>A	NM_130445.2	NP_569712.2:p.(Pro638=)	NC_000021.8:g.46908349G>A	(Likely) benign	1 lab	7df461266e
11:3249363 MRGPRE C>T	11	3249363	3249363	C	T	MRGPRE	c.667G>A	NM_001039165.3	NP_001034254.2:p.(Val223Ile)	NC_000011.9:g.3249363C>T	(Likely) benign	1 lab	7df4c34ca1
21:47629506 LSS A>G	21	47629506	47629506	A	G	LSS	c.1228T>C	NM_002340.6	NP_002331.3:p.(Cys410Arg)	NC_000021.8:g.47629506A>G	(Likely) benign	1 lab	7df55a7a7c
8:97156989 GDF6 C>T	8	97156989	97156989	C	T	GDF6	c.1170G>A	NM_001001557.3	NP_001001557.1:p.(Pro390=)	NC_000008.10:g.97156989C>T	(Likely) benign	1 lab	7df57dc0ad
1:43393384 SLC2A1 G>A	1	43393384	43393384	G	A	SLC2A1	c.1170C>T	NM_006516.3	NP_006507.2:p.(Ile390=)	NC_000001.10:g.43393384G>A	(Likely) benign	1 lab	7df83668b5
14:105414437 AHNAK2 C>T	14	105414437	105414437	C	T	AHNAK2	c.7351G>A	NM_138420.3	NP_612429.2:p.(Val2451Met)	NC_000014.8:g.105414437C>T	VUS	1 lab	7df843b746
3:142840139 CHST2 G>A	3	142840139	142840139	G	A	CHST2	c.481G>A	NM_004267.4	NP_004258.2:p.(Gly161Arg)	NC_000003.11:g.142840139G>A	(Likely) benign	1 lab	7df8a45ff7
15:67473702 SMAD3 C>T	15	67473702	67473702	C	T	SMAD3	c.782C>T	NM_005902.3	NP_005893.1:p.(Thr261Ile)	NC_000015.9:g.67473702C>T	(Likely) pathogenic	1 lab	7df9a5ba86
3:27760128 EOMES T>C	3	27760128	27760128	T	C	EOMES	c.1329A>G	NM_001278182.1	NP_001265111.1:p.(Leu443=)	NC_000003.11:g.27760128T>C	(Likely) benign	1 lab	7df9a662f4
6:33043849 HLA-DPB1 C>T	6	33043849	33043849	C	T	HLA-DPB1	c.31C>T	NM_002121.5	NP_002112.3:p.(Arg11Trp)	NC_000006.11:g.33043849C>T	(Likely) benign	1 lab	7dfa238177
7:1024867 CYP2W1 G>A	7	1024867	1024867	G	A	CYP2W1	c.553G>A	NM_017781.2	NP_060251.2:p.(Gly185Ser)	NC_000007.13:g.1024867G>A	VUS	1 lab	7dfd5a6103
8:55540074 RP1 A>C	8	55540074	55540074	A	C	RP1	c.3632A>C	NM_006269.1	NP_006260.1:p.(Asn1211Thr)	NC_000008.10:g.55540074A>C	VUS	1 lab	7dfd7b24b1
10:133058636 TCERG1L T>C	10	133058636	133058636	T	C	TCERG1L	c.742A>G	NM_174937.4	NP_777597.2:p.(Met248Val)	NC_000010.10:g.133058636T>C	(Likely) benign	1 lab	7dff1acf24
19:41066140 SPTBN4 C>T	19	41066140	41066140	C	T	SPTBN4	c.5746C>T	NM_020971.2	NP_066022.2:p.(Arg1916Trp)	NC_000019.9:g.41066140C>T	VUS	1 lab	7e009ca193
11:533308 HRAS C>CG	11	533308	533314	C	CG	HRAS	c.500dup	NM_176795.4	NP_789765.1:p.(Pro169ThrfsTer31)	NC_000011.9:g.533314dup	VUS	1 lab	7e00cccb16
20:42788536 JPH2 G>A	20	42788536	42788536	G	A	JPH2	c.891C>T	NM_020433.5	NP_065166.2:p.(Asn297=)	NC_000020.10:g.42788536G>A	(Likely) benign	1 lab	f99d9187fa
17:29560043 NF1 C>T	17	29560043	29560043	C	T	NF1	c.3520C>T	NM_000267.3	NP_000258.1:p.(Gln1174Ter)	NC_000017.10:g.29560043C>T	(Likely) pathogenic	1 lab	7e02b9d825
7:42005217 GLI3 CGGGGCAGGGCTGCTCGA>C	7	42005217	42005237	CGGGGCAGGGCTGCTCGA	C	GLI3	c.3437_3453del	NM_000168.6	NP_000159.3:p.(Leu1146ArgfsTer95)	NC_000007.13:g.42005221_42005237del	(Likely) pathogenic	1 lab	7e03687a85
14:105412805 AHNAK2 T>C	14	105412805	105412805	T	C	AHNAK2	c.8983A>G	NM_138420.3	NP_612429.2:p.(Lys2995Glu)	NC_000014.8:g.105412805T>C	(Likely) benign	1 lab	7e058a80b3
16:227253 HBA1 C>G	16	227253	227253	C	G	HBA1	c.301-29C>G	NM_000558.5	NP_000549.1:p.?	NC_000016.9:g.227253C>G	(Likely) benign	1 lab	7e0667909e
7:4901191 PAPOLB T>A	7	4901191	4901191	T	A	PAPOLB	c.251A>T	NM_020144.5	NP_064529.4:p.(Lys84Met)	NC_000007.13:g.4901191T>A	(Likely) benign	1 lab	7e0681f962
11:65637694 EFEMP2 G>T	11	65637694	65637694	G	T	EFEMP2	c.505C>A	NM_016938.4	NP_058634.4:p.(Arg169Ser)	NC_000011.9:g.65637694G>T	VUS	1 lab	7e06a17118
X:53263448 IQSEC2 T>TG	X	53263448	53263455	T	TG	IQSEC2	c.4419dup	NM_001111125.2	NP_001104595.1:p.(Ser1474GlnfsTer133)	NC_000023.10:g.53263455dup	(Likely) pathogenic	1 lab	7e077a4429
X:9863734 SHROOM2 C>T	X	9863734	9863734	C	T	SHROOM2	c.1786C>T	NM_001649.3	NP_001640.1:p.(Arg596Cys)	NC_000023.10:g.9863734C>T	(Likely) benign	1 lab	7e07a913c0
19:45528612 RELB G>A	19	45528612	45528612	G	A	RELB	c.688G>A	NM_006509.4	NP_006500.2:p.(Val230Met)	NC_000019.9:g.45528612G>A	VUS	1 lab	7e081a5112
5:1294520 TERT G>A	5	1294520	1294520	G	A	TERT	c.481C>T	NM_198253.2	NP_937983.2:p.(Leu161=)	NC_000005.9:g.1294520G>A	(Likely) benign	1 lab	7e08208436
Y:14959045 USP9Y C>G	Y	14959045	14959045	C	G	USP9Y	c.6942C>G	NM_004654.3	NP_004645.2:p.(Phe2314Leu)	NC_000024.9:g.14959045C>G	VUS	1 lab	7e0877d7d5
21:46932130 COL18A1 G>A	21	46932130	46932130	G	A	COL18A1	c.3829G>A	NM_130445.2	NP_569712.2:p.(Asp1277Asn)	NC_000021.8:g.46932130G>A	VUS	1 lab	7e0e30cecf
22:46794505 CELSR1 G>A	22	46794505	46794505	G	A	CELSR1	c.5442C>T	NM_014246.1	NP_055061.1:p.(Pro1814=)	NC_000022.10:g.46794505G>A	(Likely) benign	1 lab	7e0ef2855e
1:19549224 EMC1 G>A	1	19549224	19549224	G	A	EMC1	c.2481C>T	NM_015047.2	NP_055862.1:p.(Arg827=)	NC_000001.10:g.19549224G>A	(Likely) benign	1 lab	7e0f115dcb
21:46916415 COL18A1 G>C	21	46916415	46916415	G	C	COL18A1	c.3050G>C	NM_030582.4	NP_085059.2:p.(Gly1017Ala)	NC_000021.8:g.46916415G>C	VUS	1 lab	7e12b9b596
5:138856922 STING1 G>A	5	138856922	138856922	G	A	STING1	c.938C>T	NM_198282.4	NP_938023.1:p.(Ala313Val)	NC_000005.9:g.138856922G>A	(Likely) benign	1 lab	7e16065b76
5:90281206 ADGRV1 G>A	5	90281206	90281206	G	A	ADGRV1	c.18019G>A	NM_032119.4	NP_115495.3:p.(Glu6007Lys)	NC_000005.9:g.90281206G>A	VUS	1 lab	7e16f7ba7b
9:117853183 TNC C>G	9	117853183	117853183	C	G	TNC	c.115G>C	NM_002160.3	NP_002151.2:p.(Ala39Pro)	NC_000009.11:g.117853183C>G	(Likely) benign	1 lab	7e1819efc8
14:68270866 ZFYVE26 G>A	14	68270866	68270866	G	A	ZFYVE26	c.1387C>T	NM_015346.3	NP_056161.2:p.(Leu463Phe)	NC_000014.8:g.68270866G>A	VUS	1 lab	7e195f9045
9:139702108 CCDC183 G>A	9	139702108	139702108	G	A	CCDC183	c.1571G>A	NM_001039374.4	NP_001034463.4:p.(Gly524Glu)	NC_000009.11:g.139702108G>A	(Likely) benign	1 lab	7e1acdf81a
8:126091083 WASHC5 C>G	8	126091083	126091083	C	G	WASHC5	c.608G>C	NM_014846.3	NP_055661.3:p.(Arg203Thr)	NC_000008.10:g.126091083C>G	VUS	1 lab	7e1b11eb2e
3:47040561 NBEAL2 T>C	3	47040561	47040561	T	C	NBEAL2	c.3497T>C	NM_015175.2	NP_055990.1:p.(Leu1166Pro)	NC_000003.11:g.47040561T>C	VUS	1 lab	7e1b5e37e5
18:43469892 EPG5 T>G	18	43469892	43469892	T	G	EPG5	c.4823A>C	NM_020964.3	NP_066015.2:p.(His1608Pro)	NC_000018.9:g.43469892T>G	VUS	1 lab	7e1c40ac58
12:57548305 LRP1 C>T	12	57548305	57548305	C	T	LRP1	c.1048C>T	NM_002332.2	NP_002323.2:p.(Arg350Cys)	NC_000012.11:g.57548305C>T	VUS	1 lab	7e1d62a263
17:4903559 KIF1C G>A	17	4903559	4903559	G	A	KIF1C	c.18G>A	NM_006612.5	NP_006603.2:p.(Val6=)	NC_000017.10:g.4903559G>A	(Likely) benign	1 lab	7e1e168622
11:75719872 UVRAG G>A	11	75719872	75719872	G	A	UVRAG	c.1021G>A	NM_003369.4	NP_003360.2:p.(Val341Ile)	NC_000011.9:g.75719872G>A	VUS	1 lab	f9a0bd46d9
11:67810216 TCIRG1 G>A	11	67810216	67810216	G	A	TCIRG1				NC_000011.9:g.67810216G>A	(Likely) benign	1 lab	7e1f537765
12:53207637 KRT4 C>A	12	53207637	53207637	C	A	KRT4	c.206G>T	NM_002272.3	NP_002263.3:p.(Arg69Leu)	NC_000012.11:g.53207637C>A	(Likely) benign	1 lab	7e1fbd3058
1:201176725 IGFN1 G>C	1	201176725	201176725	G	C	IGFN1	c.2704G>C	NM_001164586.1	NP_001158058.1:p.(Gly902Arg)	NC_000001.10:g.201176725G>C	VUS	1 lab	7e22f30109
4:110865150 EGF G>C	4	110865150	110865150	G	C	EGF	c.662G>C	NM_001963.5	NP_001954.2:p.(Arg221Thr)	NC_000004.11:g.110865150G>C	(Likely) benign	1 lab	7e23ac9bbb
X:50377686 SHROOM4 G>T	X	50377686	50377686	G	T	SHROOM4	c.1387C>A	NM_020717.3	NP_065768.2:p.(Pro463Thr)	NC_000023.10:g.50377686G>T	(Likely) benign	1 lab	7e244d8559
X:34961802 FAM47B C>T	X	34961802	34961802	C	T	FAM47B	c.854C>T	NM_152631.2	NP_689844.2:p.(Pro285Leu)	NC_000023.10:g.34961802C>T	VUS	1 lab	7e2456a17b
7:50467851 IKZF1 C>T	7	50467851	50467851	C	T	IKZF1	c.1086C>T	NM_006060.6	NP_006051.1:p.(Asn362=)	NC_000007.13:g.50467851C>T	(Likely) benign	1 lab	7e246e148a
9:98660228 ERCC6L2 A>T	9	98660228	98660228	A	T	ERCC6L2	c.602A>T	NM_020207.4	NP_064592.2:p.(Glu201Val)	NC_000009.11:g.98660228A>T	VUS	1 lab	7e263f8349
2:111886206 BCL2L11 G>T	2	111886206	111886206	G	T	BCL2L11	c.217G>T	NM_207002.3	NP_996885.1:p.(Val73Phe)	NC_000002.11:g.111886206G>T	VUS	1 lab	7e264c24be
X:17819699 RAI2 G>A	X	17819699	17819699	G	A	RAI2	c.432C>T	NM_001172743.1	NP_001166214.1:p.(Ala144=)	NC_000023.10:g.17819699G>A	(Likely) benign	1 lab	7e26636265
12:58160784 CYP27B1 C>T	12	58160784	58160784	C	T	CYP27B1	c.41G>A	NM_000785.3	NP_000776.1:p.(Arg14His)	NC_000012.11:g.58160784C>T	VUS	1 lab	7e27f59ba6
5:131042198 FNIP1 T>C	5	131042198	131042198	T	C	FNIP1	c.820A>G	NM_133372.3	NP_588613.3:p.(Asn274Asp)	NC_000005.9:g.131042198T>C	VUS	1 lab	f9a2eeb9a4
9:98279018 PTCH1 C>G	9	98279018	98279018	C	G	PTCH1	c.85G>C	NM_001083603.2	NP_001077072.1:p.(Gly29Arg)	NC_000009.11:g.98279018C>G	(Likely) benign	1 lab	7e2941e781
X:30718522 GK T>C	X	30718522	30718522	T	C	GK	c.748-9T>C	NM_001205019.1	NP_001191948.1:p.?	NC_000023.10:g.30718522T>C	(Likely) benign	1 lab	7e2adcad05
18:12720638 PSMG2 C>T	18	12720638	12720638	C	T	PSMG2	c.537C>T	NM_020232.5	NP_064617.2:p.(Ile179=)	NC_000018.9:g.12720638C>T	(Likely) benign	1 lab	7e2c410109
X:142716823 SLITRK4 C>G	X	142716823	142716823	C	G	SLITRK4	c.2102G>C	NM_001184749.3	NP_001171678.1:p.(Gly701Ala)	NC_000023.10:g.142716823C>G	VUS	1 lab	7e2dea1c88
5:34998917 AGXT2 C>T	5	34998917	34998917	C	T	AGXT2	c.1452G>A	NM_031900.4	NP_114106.1:p.(Ala484=)	NC_000005.9:g.34998917C>T	(Likely) benign	1 lab	7e2e042c6b
X:119670776 CUL4B T>G	X	119670776	119670776	T	G	CUL4B	c.2100+6A>C	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119670776T>G	(Likely) benign	1 lab	7e2f6d4343
12:56625114 SLC39A5 T>C	12	56625114	56625114	T	C	SLC39A5	c.56T>C	NM_173596.2	NP_775867.2:p.(Leu19Ser)	NC_000012.11:g.56625114T>C	(Likely) benign	1 lab	7e2fcdefe8
2:74757264 HTRA2 C>G	2	74757264	74757264	C	G	HTRA2	c.131C>G	NM_013247.4	NP_037379.1:p.(Ser44Cys)	NC_000002.11:g.74757264C>G	VUS	1 lab	7e2fd0dcdc
12:132466767 EP400 C>T	12	132466767	132466767	C	T	EP400	c.1673C>T	NM_015409.4	NP_056224.3:p.(Pro558Leu)	NC_000012.11:g.132466767C>T	VUS	1 lab	7e30cf0c31
17:29592352 NF1 AC>A	17	29592352	29592353	AC	A	NF1	c.4831del	NM_001042492.3	NP_001035957.1:p.(Arg1611GlyfsTer13)	NC_000017.10:g.29592353del	(Likely) pathogenic	1 lab	7e31d40a32
11:47602156 NDUFS3 G>A	11	47602156	47602156	G	A	NDUFS3	c.213G>A	NM_004551.2	NP_004542.1:p.(Lys71=)	NC_000011.9:g.47602156G>A	(Likely) benign	1 lab	7e331c1980
12:106760470 POLR3B C>A	12	106760470	106760470	C	A	POLR3B	c.197C>A	NM_018082.5	NP_060552.4:p.(Thr66Lys)	NC_000012.11:g.106760470C>A	(Likely) benign	1 lab	7e359fcbfb
11:71939397 INPPL1 G>A	11	71939397	71939397	G	A	INPPL1	c.252G>A	NM_001567.3	NP_001558.3:p.(Ser84=)	NC_000011.9:g.71939397G>A	(Likely) benign	1 lab	7e36305ff2
11:44296946 ALX4 C>T	11	44296946	44296946	C	T	ALX4	c.729G>A	NM_021926.4	NP_068745.2:p.(Ala243=)	NC_000011.9:g.44296946C>T	(Likely) benign	1 lab	7e36e5faca
17:29670152 NF1 AG>A	17	29670152	29670154	AG	A	NF1	c.7189+1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29670154del	(Likely) pathogenic	1 lab	7e38d800d2
3:43618556 ANO10 C>T	3	43618556	43618556	C	T	ANO10	c.790G>A	NM_001204831.2	NP_001191760.1:p.(Gly264Ser)	NC_000003.11:g.43618556C>T	(Likely) benign	1 lab	7e3f021dda
1:153907306 DENND4B T>TGC	1	153907306	153907307	T	TGC	DENND4B	c.2702_2703insGC	NM_014856.3	NP_055671.2:p.(Gln902HisfsTer48)	NC_000001.10:g.153907306_153907307insGC	(Likely) benign	1 lab	7e406c3158
X:77268390 ATP7A G>A	X	77268390	77268390	G	A	ATP7A	c.2187G>A	NM_000052.6	NP_000043.4:p.(Trp729Ter)	NC_000023.10:g.77268390G>A	(Likely) pathogenic	1 lab	7e4093f04c
16:89858357 FANCA T>C	16	89858357	89858357	T	C	FANCA	c.1203A>G	NM_001286167.2	NP_001273096.1:p.(Pro401=)	NC_000016.9:g.89858357T>C	(Likely) benign	1 lab	7e41fe1f80
X:153760824 G6PD G>A	X	153760824	153760824	G	A	G6PD	c.1335C>T	NM_000402.4	NP_000393.4:p.(Pro445=)	NC_000023.10:g.153760824G>A	(Likely) benign	1 lab	7e429a9509
18:34232826 FHOD3 C>T	18	34232826	34232826	C	T	FHOD3	c.1580C>T	NM_001281740.2	NP_001268669.1:p.(Ser527Phe)	NC_000018.9:g.34232826C>T	VUS	1 lab	7e43897853
10:43609104 RET C>G	10	43609104	43609104	C	G	RET	c.1860C>G	NM_020975.4	NP_066124.1:p.(Cys620Trp)	NC_000010.10:g.43609104C>G	VUS	1 lab	7e4502d93b
10:86007355 RGR G>A	10	86007355	86007355	G	A	RGR	c.88G>A	NM_002921.3	NP_002912.2:p.(Gly30Ser)	NC_000010.10:g.86007355G>A	VUS	1 lab	7e4537f170
10:50957863 OGDHL C>T	10	50957863	50957863	C	T	OGDHL	c.270-1G>A	NM_001347821.1	NP_001334750.1:p.?	NC_000010.10:g.50957863C>T	VUS	1 lab	7e459400c5
X:64743517 LAS1L G>A	X	64743517	64743517	G	A	LAS1L	c.1371C>T	NM_031206.4	NP_112483.1:p.(Ser457=)	NC_000023.10:g.64743517G>A	(Likely) benign	1 lab	7e46b135b3
X:22266034 PHEX G>A	X	22266034	22266034	G	A	PHEX	c.2214G>A	NM_000444.5	NP_000435.3:p.(Thr738=)	NC_000023.10:g.22266034G>A	(Likely) benign	1 lab	7e46d13308
5:90107030 ADGRV1 A>T	5	90107030	90107030	A	T	ADGRV1	c.15953A>T	NM_032119.4	NP_115495.3:p.(Asp5318Val)	NC_000005.9:g.90107030A>T	VUS	1 lab	7e4746f4be
11:6646499 DCHS1 C>T	11	6646499	6646499	C	T	DCHS1				NC_000011.9:g.6646499C>T	(Likely) benign	1 lab	82ac7c0c37
1:237947225 RYR2 G>A	1	237947225	237947225	G	A	RYR2	c.12213G>A	NM_001035.2	NP_001026.2:p.(Glu4071=)	NC_000001.10:g.237947225G>A	(Likely) benign	1 lab	7e477e40e6
X:153587643 FLNA T>C	X	153587643	153587643	T	C	FLNA	c.4274A>G	NM_001110556.2	NP_001104026.1:p.(Asn1425Ser)	NC_000023.10:g.153587643T>C	VUS	1 lab	7e4852f98b
13:113729487 MCF2L A>C	13	113729487	113729487	A	C	MCF2L	c.1286A>C	NM_001320815.1	NP_001307744.1:p.(His429Pro)	NC_000013.10:g.113729487A>C	VUS	1 lab	7e493d001e
5:37180277 CPLANE1 G>A	5	37180277	37180277	G	A	CPLANE1	c.5579C>T	NM_023073.3	NP_075561.3:p.(Pro1860Leu)	NC_000005.9:g.37180277G>A	VUS	1 lab	7e4c420cad
9:86590381 HNRNPK C>T	9	86590381	86590381	C	T	HNRNPK	c.253G>A	NM_002140.4	NP_002131.2:p.(Glu85Lys)	NC_000009.11:g.86590381C>T	VUS	1 lab	7e4c676dec
15:101109904 LINS1 T>C	15	101109904	101109904	T	C	LINS1	c.1813A>G	NM_001040616.2	NP_001035706.1:p.(Met605Val)	NC_000015.9:g.101109904T>C	(Likely) benign	1 lab	7e4d9b201f
X:47837086 ZNF182 C>T	X	47837086	47837086	C	T	ZNF182	c.400G>A	NM_001178099.1	NP_001171570.1:p.(Ala134Thr)	NC_000023.10:g.47837086C>T	(Likely) benign	1 lab	7e4e32fdf3
16:2110730 TSC2 C>A	16	2110730	2110730	C	A	TSC2	c.1035C>A	NM_000548.3	NP_000539.2:p.(Leu345=)	NC_000016.9:g.2110730C>A	VUS	1 lab	7e4f150431
22:38130508 TRIOBP C>A	22	38130508	38130508	C	A	TRIOBP	c.4165C>A	NM_001039141.2	NP_001034230.1:p.(Leu1389Ile)	NC_000022.10:g.38130508C>A	(Likely) benign	1 lab	7e4fb65783
1:227169782 COQ8A G>A	1	227169782	227169782	G	A	COQ8A	c.785G>A	NM_020247.4	NP_064632.2:p.(Arg262Gln)	NC_000001.10:g.227169782G>A	VUS	1 lab	7e50c3fcb5
4:126336042 FAT4 T>C	4	126336042	126336042	T	C	FAT4	c.5924T>C	NM_024582.4	NP_078858.4:p.(Ile1975Thr)	NC_000004.11:g.126336042T>C	(Likely) benign	1 lab	7e50ce2639
22:25024045 GGT1 C>T	22	25024045	25024045	C	T	GGT1	c.1337-3C>T	NM_001288833.2	NP_001275762.1:p.?	NC_000022.10:g.25024045C>T	VUS	1 lab	7e5134763c
1:35370399 DLGAP3 T>G	1	35370399	35370399	T	G	DLGAP3	c.586A>C	NM_001080418.3	NP_001073887.1:p.(Asn196His)	NC_000001.10:g.35370399T>G	VUS	1 lab	7e5149996a
6:33756537 LEMD2 G>A	6	33756537	33756537	G	A	LEMD2	c.357C>T	NM_181336.3	NP_851853.1:p.(Gly119=)	NC_000006.11:g.33756537G>A	(Likely) benign	1 lab	7e5319c2ba
14:102510282 DYNC1H1 G>A	14	102510282	102510282	G	A	DYNC1H1	c.12584G>A	NM_001376.4	NP_001367.2:p.(Arg4195Gln)	NC_000014.8:g.102510282G>A	VUS	1 lab	7e57054148
16:2125824 TSC2 A>G	16	2125824	2125824	A	G	TSC2	c.2570A>G	NM_001114382.2	NP_001107854.1:p.(Tyr857Cys)	NC_000016.9:g.2125824A>G	VUS	1 lab	7e59ebb861
7:113558613 PPP1R3A G>A	7	113558613	113558613	G	A	PPP1R3A	c.439C>T	NM_002711.3	NP_002702.2:p.(Arg147Ter)	NC_000007.13:g.113558613G>A	(Likely) pathogenic	1 lab	7e5a5d30a0
5:38958883 RICTOR A>G	5	38958883	38958883	A	G	RICTOR	c.2229T>C	NM_001285439.1	NP_001272368.1:p.(Asn743=)	NC_000005.9:g.38958883A>G	(Likely) benign	1 lab	7e5adf79c5
21:47841889 PCNT G>A	21	47841889	47841889	G	A	PCNT	c.7030G>A	NM_006031.5	NP_006022.3:p.(Gly2344Ser)	NC_000021.8:g.47841889G>A	VUS	1 lab	7e5ae60c57
12:50745306 FAM186A C>A	12	50745306	50745306	C	A	FAM186A	c.5309G>T	NM_001145475.2	NP_001138947.1:p.(Gly1770Val)	NC_000012.11:g.50745306C>A	(Likely) benign	1 lab	7e5b1f5f8f
12:103245502 PAH G>T	12	103245502	103245502	G	T	PAH	c.875C>A	NM_000277.1	NP_000268.1:p.(Pro292His)	NC_000012.11:g.103245502G>T	(Likely) benign	1 lab	7e5be3970f
14:91804386 CCDC88C T>C	14	91804386	91804386	T	C	CCDC88C	c.1013A>G	NM_001080414.3	NP_001073883.2:p.(Lys338Arg)	NC_000014.8:g.91804386T>C	(Likely) benign	1 lab	7e5c496945
15:28473386 HERC2 C>A	15	28473386	28473386	C	A	HERC2	c.5442G>T	NM_004667.5	NP_004658.3:p.(Thr1814=)	NC_000015.9:g.28473386C>A	(Likely) benign	1 lab	7e5d4fe9a5
19:5071053 KDM4B T>C	19	5071053	5071053	T	C	KDM4B	c.659T>C	NM_015015.3	NP_055830.1:p.(Leu220Pro)	NC_000019.9:g.5071053T>C	VUS	1 lab	b4401096a8
15:28951292 GOLGA8M T>A	15	28951292	28951292	T	A	GOLGA8M	c.844A>T	NM_001282468.1	NP_001269397.1:p.(Arg282Trp)	NC_000015.9:g.28951292T>A	VUS	1 lab	7e5de19d52
17:78078848 GAA A>AC	17	78078848	78078850	A	AC	GAA	c.465dup	NM_000152.3	NP_000143.2:p.(Thr156HisfsTer21)	NC_000017.10:g.78078850dup	(Likely) pathogenic	1 lab	7e5ee47e31
7:75864516 SRRM3 G>A	7	75864516	75864516	G	A	SRRM3	c.132G>A	NM_001291831.1	NP_001278760.1:p.(Pro44=)	NC_000007.13:g.75864516G>A	(Likely) benign	1 lab	7e5f0eb056
3:45542064 LARS2 A>G	3	45542064	45542064	A	G	LARS2	c.1753A>G	NM_015340.4	NP_056155.1:p.(Lys585Glu)	NC_000003.11:g.45542064A>G	VUS	1 lab	7e5f95a2ed
1:150065635 VPS45 G>GT	1	150065635	150065636	G	GT	VPS45	c.1385dup	NM_007259.5	NP_009190.2:p.(Tyr463IlefsTer10)	NC_000001.10:g.150065636dup	(Likely) benign	1 lab	7e6117861a
2:15468407 NBAS G>A	2	15468407	15468407	G	A	NBAS	c.4377C>T	NM_015909.3	NP_056993.2:p.(Ile1459=)	NC_000002.11:g.15468407G>A	(Likely) benign	1 lab	7e621a9949
X:56291969 KLF8 C>T	X	56291969	56291969	C	T	KLF8	c.438C>T	NM_007250.5	NP_009181.2:p.(Thr146=)	NC_000023.10:g.56291969C>T	(Likely) benign	1 lab	7e660ad142
1:156146188 SEMA4A T>C	1	156146188	156146188	T	C	SEMA4A	c.1694-8T>C	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156146188T>C	(Likely) benign	1 lab	7e66c19073
11:45948364 LARGE2 GA>G	11	45948364	45948366	GA	G	LARGE2	c.1269del	NM_001300721.2	NP_001287650.1:p.(Glu423AspfsTer35)	NC_000011.9:g.45948366del	VUS	1 lab	7e67034913
17:56437542 RNF43 C>T	17	56437542	56437542	C	T	RNF43	c.920G>A	NM_017763.5	NP_060233.3:p.(Arg307Gln)	NC_000017.10:g.56437542C>T	(Likely) benign	1 lab	7e67355096
9:14797487 FREM1 G>A	9	14797487	14797487	G	A	FREM1	c.3839+9C>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14797487G>A	(Likely) benign	1 lab	7e68a7b90a
6:26107860 H1-6 C>T	6	26107860	26107860	C	T	H1-6	c.462G>A	NM_005323.3	NP_005314.2:p.(Lys154=)	NC_000006.11:g.26107860C>T	(Likely) benign	1 lab	7e6dd00ba9
X:129148257 BCORL1 G>A	X	129148257	129148257	G	A	BCORL1	c.1509G>A	NM_021946.4	NP_068765.3:p.(Pro503=)	NC_000023.10:g.129148257G>A	(Likely) benign	1 lab	7e704fb057
17:42152793 G6PC3 C>T	17	42152793	42152793	C	T	G6PC3	c.532C>T	NM_001319945.1	NP_001306874.1:p.(Leu178Phe)	NC_000017.10:g.42152793C>T	(Likely) benign	1 lab	7e70f65338
6:162394354 PRKN G>A	6	162394354	162394354	G	A	PRKN	c.714C>T	NM_004562.2	NP_004553.2:p.(Cys238=)	NC_000006.11:g.162394354G>A	(Likely) benign	1 lab	7e728a00da
12:124827729 NCOR2 C>T	12	124827729	124827729	C	T	NCOR2	c.4758G>A	NM_006312.5	NP_006303.4:p.(Thr1586=)	NC_000012.11:g.124827729C>T	(Likely) benign	1 lab	7e72df2bbe
12:105538083 WASHC4 TG>T	12	105538083	105538084	TG	T	WASHC4	c.2030del	NM_015275.3	NP_056090.1:p.(Cys677SerfsTer4)	NC_000012.11:g.105538084del	VUS	1 lab	7e72df7e2c
X:153296516 MECP2 G>C	X	153296516	153296516	G	C	MECP2	c.763C>G	NM_004992.3	NP_004983.1:p.(Arg255Gly)	NC_000023.10:g.153296516G>C	(Likely) pathogenic	1 lab	7e72e49c0c
22:47188468 MISSING T>C	22	47188468	47188468	T	C	MISSING				NC_000022.10:g.47188468T>C	(Likely) benign	1 lab	7e74f4d426
6:24454283 GPLD1 TCCAGGTCAACAGGTGGCAGGC>T	6	24454283	24454312	TCCAGGTCAACAGGTGGCAGGC	T	GPLD1	c.1274_1294del	NM_001503.4	NP_001494.2:p.(Gly425_Leu431del)	NC_000006.11:g.24454292_24454312del	(Likely) benign	1 lab	7e77e480ba
5:169145778 DOCK2 G>A	5	169145778	169145778	G	A	DOCK2	c.2250G>A	NM_004946.3	NP_004937.1:p.(Ser750=)	NC_000005.9:g.169145778G>A	(Likely) benign	1 lab	7e7811870d
17:18023029 MYO15A C>T	17	18023029	18023029	C	T	MYO15A	c.915C>T	NM_016239.3	NP_057323.3:p.(Tyr305=)	NC_000017.10:g.18023029C>T	(Likely) benign	1 lab	7e78498335
12:120221729 CIT A>T	12	120221729	120221729	A	T	CIT	c.1528T>A	NM_001206999.1	NP_001193928.1:p.(Tyr510Asn)	NC_000012.11:g.120221729A>T	VUS	1 lab	7e78623be6
14:23249244 SLC7A7 A>G	14	23249244	23249244	A	G	SLC7A7	c.516T>C	NM_001126106.2	NP_001119578.1:p.(Ile172=)	NC_000014.8:g.23249244A>G	(Likely) benign	1 lab	7e791a230b
10:134671153 CFAP46 C>T	10	134671153	134671153	C	T	CFAP46	c.5515G>A	NM_001200049.3	NP_001186978.2:p.(Ala1839Thr)	NC_000010.10:g.134671153C>T	(Likely) benign	1 lab	7e7ca9175e
19:50755983 MYH14 C>T	19	50755983	50755983	C	T	MYH14	c.1918C>T	NM_001145809.1	NP_001139281.1:p.(Arg640Trp)	NC_000019.9:g.50755983C>T	(Likely) benign	1 lab	7e7d4d7922
9:139438473 NOTCH1 C>G	9	139438473	139438473	C	G	NOTCH1	c.140+3G>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139438473C>G	(Likely) pathogenic	1 lab	7e7e241f63
7:4830526 AP5Z1 G>A	7	4830526	4830526	G	A	AP5Z1	c.2153+8G>A	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4830526G>A	VUS	1 lab	7e7e567765
5:1217012 SLC6A19 C>T	5	1217012	1217012	C	T	SLC6A19	c.1125C>T	NM_001003841.2	NP_001003841.1:p.(Tyr375=)	NC_000005.9:g.1217012C>T	(Likely) benign	1 lab	7e7fa466c1
1:38078561 RSPO1 G>A	1	38078561	38078561	G	A	RSPO1	c.658C>T	NM_001038633.3	NP_001033722.1:p.(Arg220Trp)	NC_000001.10:g.38078561G>A	VUS	1 lab	7e8022280d
8:41553938 ANK1 T>G	8	41553938	41553938	T	G	ANK1	c.3026A>C	NM_001142446.1	NP_001135918.1:p.(Glu1009Ala)	NC_000008.10:g.41553938T>G	(Likely) benign	1 lab	7e83352334
X:103080379 RAB9B C>T	X	103080379	103080379	C	T	RAB9B	c.336G>A	NM_016370.3	NP_057454.1:p.(Lys112=)	NC_000023.10:g.103080379C>T	(Likely) benign	1 lab	7e839dc6ab
9:103004888 INVS A>G	9	103004888	103004888	A	G	INVS	c.833A>G	NM_014425.4	NP_055240.2:p.(Asn278Ser)	NC_000009.11:g.103004888A>G	VUS	1 lab	7e8537945b
X:153050888 SRPK3 C>T	X	153050888	153050888	C	T	SRPK3	c.1617C>T	NM_014370.3	NP_055185.2:p.(Ser539=)	NC_000023.10:g.153050888C>T	(Likely) benign	1 lab	7e8575db96
6:152469341 SYNE1 C>T	6	152469341	152469341	C	T	SYNE1	c.24815G>A	NM_182961.3	NP_892006.3:p.(Arg8272Gln)	NC_000006.11:g.152469341C>T	VUS	1 lab	7e85e902fc
19:54822743 LILRA5 C>T	19	54822743	54822743	C	T	LILRA5	c.653G>A	NM_021250.3	NP_067073.1:p.(Arg218His)	NC_000019.9:g.54822743C>T	(Likely) benign	1 lab	7e862d426a
5:149776388 TCOF1 A>AG	5	149776388	149776389	A	AG	TCOF1	c.4326dup	NM_001135243.1	NP_001128715.1:p.(Lys1443GlufsTer28)	NC_000005.9:g.149776389dup	(Likely) pathogenic	1 lab	7e88351d6b
3:52488016 TNNC1 T>G	3	52488016	52488016	T	G	TNNC1	c.16A>C	NM_003280.2	NP_003271.1:p.(Lys6Gln)	NC_000003.11:g.52488016T>G	VUS	1 lab	7e895d39fb
7:23775349 STK31 T>C	7	23775349	23775349	T	C	STK31	c.607T>C	NM_001260504.1	NP_001247433.1:p.(Leu203=)	NC_000007.13:g.23775349T>C	(Likely) benign	1 lab	7e89c340f5
X:110496390 CAPN6 C>T	X	110496390	110496390	C	T	CAPN6	c.352G>A	NM_014289.3	NP_055104.2:p.(Ala118Thr)	NC_000023.10:g.110496390C>T	VUS	1 lab	7e8add2f25
7:82585454 PCLO T>A	7	82585454	82585454	T	A	PCLO	c.4815A>T	NM_033026.5	NP_149015.2:p.(Ala1605=)	NC_000007.13:g.82585454T>A	(Likely) benign	1 lab	7e8c8d0576
16:88502138 ZNF469 G>A	16	88502138	88502138	G	A	ZNF469				NC_000016.9:g.88502138G>A	VUS	1 lab	7e8d6ef598
21:47831713 PCNT C>T	21	47831713	47831713	C	T	PCNT	c.5726C>T	NM_006031.5	NP_006022.3:p.(Pro1909Leu)	NC_000021.8:g.47831713C>T	(Likely) benign	1 lab	7e8e372860
X:84606355 POF1B C>A	X	84606355	84606355	C	A	POF1B	c.540+1G>T	NM_024921.3	NP_079197.3:p.?	NC_000023.10:g.84606355C>A	(Likely) pathogenic	1 lab	7e8f1a5cf8
2:234669768 UGT1A1 A>T	2	234669768	234669768	A	T	UGT1A1	c.835A>T	NM_000463.2	NP_000454.1:p.(Asn279Tyr)	NC_000002.11:g.234669768A>T	(Likely) pathogenic	1 lab	7e902b2639
X:65417725 HEPH G>C	X	65417725	65417725	G	C	HEPH	c.1864G>C	NM_138737.4	NP_620074.3:p.(Asp622His)	NC_000023.10:g.65417725G>C	(Likely) benign	1 lab	7e9146121e
X:30269586 MAGEB1 C>T	X	30269586	30269586	C	T	MAGEB1	c.976C>T	NM_002363.4	NP_002354.2:p.(Arg326Cys)	NC_000023.10:g.30269586C>T	(Likely) benign	1 lab	7e917502af
8:100880536 VPS13B TG>T	8	100880536	100880537	TG	T	VPS13B	c.11236del	NM_152564.5	NP_689777.3:p.(Asp3746IlefsTer107)	NC_000008.10:g.100880537del	(Likely) pathogenic	1 lab	7e91b7292b
6:102074252 GRIK2 C>T	6	102074252	102074252	C	T	GRIK2	c.284-3C>T	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102074252C>T	(Likely) benign	1 lab	f9b25447b0
19:45206933 CEACAM16 G>A	19	45206933	45206933	G	A	CEACAM16	c.352G>A	NM_001039213.4	NP_001034302.2:p.(Glu118Lys)	NC_000019.9:g.45206933G>A	(Likely) benign	1 lab	7e91cb93cb
19:18255455 MAST3 G>A	19	18255455	18255455	G	A	MAST3	c.2677G>A	NM_015016.2	NP_055831.1:p.(Val893Met)	NC_000019.9:g.18255455G>A	(Likely) benign	1 lab	7e92a0e7da
8:65527641 CYP7B1 T>C	8	65527641	65527641	T	C	CYP7B1	c.999A>G	NM_004820.4	NP_004811.1:p.(Lys333=)	NC_000008.10:g.65527641T>C	(Likely) benign	1 lab	7e937c0925
3:121489350 IQCB1 C>CTGCCACA	3	121489350	121489357	C	CTGCCACA	IQCB1	c.1632_1638dup	NM_001023570.3	NP_001018864.2:p.(Ala547CysfsTer31)	NC_000003.11:g.121489351_121489357dup	(Likely) pathogenic	1 lab	7e940b26d9
15:23890195 MAGEL2 G>A	15	23890195	23890195	G	A	MAGEL2	c.2695C>T	NM_019066.4	NP_061939.3:p.(Arg899Cys)	NC_000015.9:g.23890195G>A	VUS	1 lab	7e94cdec5a
1:245530218 KIF26B G>A	1	245530218	245530218	G	A	KIF26B	c.548G>A	NM_018012.4	NP_060482.2:p.(Arg183His)	NC_000001.10:g.245530218G>A	VUS	1 lab	f9b4e8c6ec
15:48707882 FBN1 G>C	15	48707882	48707882	G	C	FBN1	c.7902C>G	NM_000138.4	NP_000129.3:p.(Pro2634=)	NC_000015.9:g.48707882G>C	(Likely) benign	1 lab	7e96289e4f
19:9047369 MUC16 G>T	19	9047369	9047369	G	T	MUC16	c.34262C>A	NM_024690.2	NP_078966.2:p.(Thr11421Asn)	NC_000019.9:g.9047369G>T	(Likely) benign	1 lab	7e9676f558
1:110163746 AMPD2 C>G	1	110163746	110163746	C	G	AMPD2	c.17C>G	NM_001308170.1	NP_001295099.1:p.(Ala6Gly)	NC_000001.10:g.110163746C>G	(Likely) benign	1 lab	7e9a050eee
19:55668006 TNNI3 A>AT	19	55668006	55668012	A	AT	TNNI3	c.114dup	NM_000363.4	NP_000354.4:p.(Ser39IlefsTer2)	NC_000019.9:g.55668012dup	(Likely) pathogenic	1 lab	7e9a459ebe
X:71360126 NHSL2 A>G	X	71360126	71360126	A	G	NHSL2	c.2728A>G	NM_001013627.2	NP_001013649.2:p.(Ile910Val)	NC_000023.10:g.71360126A>G	(Likely) benign	1 lab	7e9c1ecdfe
8:2026840 MYOM2 G>T	8	2026840	2026840	G	T	MYOM2	c.1288G>T	NM_003970.4	NP_003961.3:p.(Val430Leu)	NC_000008.10:g.2026840G>T	(Likely) benign	1 lab	7e9e9000fa
22:40061921 CACNA1I G>C	22	40061921	40061921	G	C	CACNA1I	c.4014G>C	NM_021096.3	NP_066919.2:p.(Val1338=)	NC_000022.10:g.40061921G>C	(Likely) benign	1 lab	7ea14476a1
1:160650888 CD48 C>T	1	160650888	160650888	C	T	CD48	c.756G>A	NM_001256030.1	NP_001242959.1:p.(Trp252Ter)	NC_000001.10:g.160650888C>T	VUS	1 lab	7ea18b2a55
18:77496348 CTDP1 T>C	18	77496348	77496348	T	C	CTDP1	c.2581-7T>C	NM_004715.4	NP_004706.3:p.?	NC_000018.9:g.77496348T>C	(Likely) benign	1 lab	7ea2b4369c
12:49443500 KMT2D G>A	12	49443500	49443500	G	A	KMT2D	c.3871C>T	NM_003482.3	NP_003473.3:p.(Arg1291Trp)	NC_000012.11:g.49443500G>A	VUS	1 lab	7ea558e1ab
16:5128844 ALG1 G>A	16	5128844	5128844	G	A	ALG1	c.827G>A	NM_019109.4	NP_061982.3:p.(Arg276Gln)	NC_000016.9:g.5128844G>A	VUS	1 lab	7ea5f22fc8
X:49079540 CACNA1F T>C	X	49079540	49079540	T	C	CACNA1F	c.1966A>G	NM_005183.3	NP_005174.2:p.(Ile656Val)	NC_000023.10:g.49079540T>C	VUS	1 lab	7ea8753a61
2:152521096 NEB C>T	2	152521096	152521096	C	T	NEB	c.5370G>A	NM_001271208.2	NP_001258137.2:p.(Glu1790=)	NC_000002.11:g.152521096C>T	(Likely) benign	1 lab	f9b4e9a724
20:31024722 ASXL1 C>T	20	31024722	31024722	C	T	ASXL1	c.4207C>T	NM_015338.5	NP_056153.2:p.(Pro1403Ser)	NC_000020.10:g.31024722C>T	VUS	1 lab	7eabd46054
X:53576430 HUWE1 G>A	X	53576430	53576430	G	A	HUWE1	c.9525C>T	NM_031407.6	NP_113584.3:p.(Leu3175=)	NC_000023.10:g.53576430G>A	(Likely) benign	1 lab	7eac294353
16:15839103 MYH11 G>C	16	15839103	15839103	G	C	MYH11	c.2433-9C>G	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15839103G>C	(Likely) benign	1 lab	7eac3679de
16:21123314 DNAH3 C>T	16	21123314	21123314	C	T	DNAH3	c.1920G>A	NM_017539.2	NP_060009.1:p.(Thr640=)	NC_000016.9:g.21123314C>T	VUS	1 lab	7eac6e6fe5
3:189607155 TP63 A>G	3	189607155	189607155	A	G	TP63	c.1534A>G	NM_003722.5	NP_003713.3:p.(Met512Val)	NC_000003.11:g.189607155A>G	VUS	1 lab	f9b62e7f7d
X:70597580 TAF1 G>C	X	70597580	70597580	G	C	TAF1	c.902G>C	NM_001286074.1	NP_001273003.1:p.(Cys301Ser)	NC_000023.10:g.70597580G>C	(Likely) benign	1 lab	7eaf520188
1:228495913 OBSCN G>A	1	228495913	228495913	G	A	OBSCN	c.15439G>A	NM_001271223.2	NP_001258152.2:p.(Val5147Met)	NC_000001.10:g.228495913G>A	VUS	1 lab	7eb05dfdc3
9:80921300 PSAT1 G>A	9	80921300	80921300	G	A	PSAT1	c.468G>A	NM_058179.3	NP_478059.1:p.(Thr156=)	NC_000009.11:g.80921300G>A	(Likely) benign	1 lab	7eb3e64010
1:116206842 VANGL1 C>T	1	116206842	116206842	C	T	VANGL1	c.765C>T	NM_138959.2	NP_620409.1:p.(Val255=)	NC_000001.10:g.116206842C>T	(Likely) benign	1 lab	7eb3f41eed
10:55755464 PCDH15 T>C	10	55755464	55755464	T	C	PCDH15	c.2813A>G	NM_001354429.1	NP_001341358.1:p.(Asp938Gly)	NC_000010.10:g.55755464T>C	VUS	1 lab	7eb515e97b
X:125954712 PRR32 G>A	X	125954712	125954712	G	A	PRR32	c.91G>A	NM_001122716.1	NP_001116188.1:p.(Asp31Asn)	NC_000023.10:g.125954712G>A	(Likely) benign	1 lab	7eb54881e8
3:148925413 CP C>A	3	148925413	148925413	C	A	CP	c.782-9G>T	NM_000096.3	NP_000087.1:p.?	NC_000003.11:g.148925413C>A	(Likely) benign	1 lab	7eb54e8727
7:35293120 TBX20 T>C	7	35293120	35293120	T	C	TBX20	c.112A>G	NM_001077653.2	NP_001071121.1:p.(Thr38Ala)	NC_000007.13:g.35293120T>C	VUS	1 lab	7eb5b35688
11:120300218 ARHGEF12 C>T	11	120300218	120300218	C	T	ARHGEF12	c.655C>T	NM_015313.2	NP_056128.1:p.(Arg219Trp)	NC_000011.9:g.120300218C>T	VUS	1 lab	7eb5c18d7b
2:217005903 XRCC5 T>G	2	217005903	217005903	T	G	XRCC5	c.1343-6T>G	NM_021141.3	NP_066964.1:p.?	NC_000002.11:g.217005903T>G	(Likely) benign	1 lab	7eb8fa700d
X:118893104 SOWAHD C>T	X	118893104	118893104	C	T	SOWAHD	c.474C>T	NM_001105576.3	NP_001099046.1:p.(His158=)	NC_000023.10:g.118893104C>T	(Likely) benign	1 lab	7eb915e049
13:103519044 ERCC5 C>T	13	103519044	103519044	C	T	ERCC5	c.2382C>T	NM_000123.3	NP_000114.2:p.(Cys794=)	NC_000013.10:g.103519044C>T	(Likely) benign	1 lab	7ebb14d700
12:122985313 ZCCHC8 C>T	12	122985313	122985313	C	T	ZCCHC8	c.75G>A	NM_017612.4	NP_060082.2:p.(Lys25=)	NC_000012.11:g.122985313C>T	(Likely) benign	1 lab	7ebec3bafb
22:24167410 SMARCB1 A>T	22	24167410	24167410	A	T	SMARCB1	c.796-2A>T	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24167410A>T	(Likely) pathogenic	1 lab	7ebf32c405
19:50314738 FUZ A>C	19	50314738	50314738	A	C	FUZ	c.388-14T>G	NM_025129.4	NP_079405.2:p.?	NC_000019.9:g.50314738A>C	(Likely) benign	1 lab	7ec0c77c60
4:3533945 LRPAP1 C>T	4	3533945	3533945	C	T	LRPAP1	c.195G>A	NM_002337.4	NP_002328.1:p.(Lys65=)	NC_000004.11:g.3533945C>T	(Likely) benign	1 lab	7ec115470f
3:50402131 CACNA2D2 G>A	3	50402131	50402131	G	A	CACNA2D2	c.3419C>T	NM_001174051.2	NP_001167522.1:p.(Pro1140Leu)	NC_000003.11:g.50402131G>A	(Likely) benign	1 lab	7ec17ce88a
7:66103259 KCTD7 C>T	7	66103259	66103259	C	T	KCTD7	c.334C>T	NM_153033.4	NP_694578.1:p.(Arg112Cys)	NC_000007.13:g.66103259C>T	VUS	1 lab	7ec28e609e
1:3328723 PRDM16 G>A	1	3328723	3328723	G	A	PRDM16	c.1962G>A	NM_022114.3	NP_071397.3:p.(Ala654=)	NC_000001.10:g.3328723G>A	(Likely) benign	1 lab	7ec376f8d9
X:70679406 TAF1 G>C	X	70679406	70679406	G	C	TAF1	c.5135G>C	NM_001286074.1	NP_001273003.1:p.(Gly1712Ala)	NC_000023.10:g.70679406G>C	(Likely) benign	1 lab	7ec4c4da92
6:35471535 TULP1 C>T	6	35471535	35471535	C	T	TULP1	c.1203G>A	NM_003322.5	NP_003313.3:p.(Gln401=)	NC_000006.11:g.35471535C>T	(Likely) benign	1 lab	7ec736fc26
12:124172609 TCTN2 A>G	12	124172609	124172609	A	G	TCTN2	c.776A>G	NM_024809.4	NP_079085.2:p.(Gln259Arg)	NC_000012.11:g.124172609A>G	VUS	1 lab	7ec9470cc7
7:42004263 GLI3 G>A	7	42004263	42004263	G	A	GLI3	c.4408C>T	NM_000168.5	NP_000159.3:p.(Gln1470Ter)	NC_000007.13:g.42004263G>A	(Likely) pathogenic	1 lab	7ecb14d1d8
1:109477462 CLCC1 G>C	1	109477462	109477462	G	C	CLCC1	c.1486C>G	NM_001048210.2	NP_001041675.1:p.(Pro496Ala)	NC_000001.10:g.109477462G>C	(Likely) benign	1 lab	7ecbea5c15
21:47836750 PCNT T>C	21	47836750	47836750	T	C	PCNT	c.6918T>C	NM_006031.5	NP_006022.3:p.(Ala2306=)	NC_000021.8:g.47836750T>C	(Likely) benign	1 lab	7ece6070cc
1:183102632 LAMC1 G>A	1	183102632	183102632	G	A	LAMC1	c.3796G>A	NM_002293.3	NP_002284.3:p.(Glu1266Lys)	NC_000001.10:g.183102632G>A	(Likely) benign	1 lab	7ed05f5f95
3:195507276 MUC4 G>A	3	195507276	195507276	G	A	MUC4	c.11175C>T	NM_018406.6	NP_060876.5:p.(His3725=)	NC_000003.11:g.195507276G>A	(Likely) benign	1 lab	7ed0955acf
9:2827074 PUM3 G>A	9	2827074	2827074	G	A	PUM3	c.1034C>T	NM_014878.5	NP_055693.4:p.(Ser345Leu)	NC_000009.11:g.2827074G>A	(Likely) benign	1 lab	7ed0e7e03b
19:49920422 KASH5 G>A	19	49920422	49920422	G	A	KASH5	c.1446G>A	NM_144688.5	NP_653289.3:p.(Ala482=)	NC_000019.9:g.49920422G>A	(Likely) benign	1 lab	7ed1bf83f5
5:96224942 ERAP2 G>T	5	96224942	96224942	G	T	ERAP2	c.903G>T	NM_022350.4	NP_071745.1:p.(Gln301His)	NC_000005.9:g.96224942G>T	(Likely) benign	1 lab	7ed43aa6c0
11:118347664 KMT2A C>T	11	118347664	118347664	C	T	KMT2A	c.3301C>T	NM_001197104.2	NP_001184033.1:p.(Arg1101Ter)	NC_000011.9:g.118347664C>T	(Likely) pathogenic	1 lab	f9ba9d8dd2
13:39261519 FREM2 G>A	13	39261519	39261519	G	A	FREM2	c.38G>A	NM_207361.5	NP_997244.4:p.(Arg13Gln)	NC_000013.10:g.39261519G>A	(Likely) benign	1 lab	7ed7d373ca
X:153670955 GDI1 C>T	X	153670955	153670955	C	T	GDI1	c.1280C>T	NM_001493.2	NP_001484.1:p.(Thr427Met)	NC_000023.10:g.153670955C>T	(Likely) benign	1 lab	7ed85340d5
16:71059337 HYDIN G>A	16	71059337	71059337	G	A	HYDIN	c.3135C>T	NM_001270974.2	NP_001257903.1:p.(Val1045=)	NC_000016.9:g.71059337G>A	(Likely) benign	1 lab	7ed8d10efd
1:19570174 EMC1 C>T	1	19570174	19570174	C	T	EMC1	c.314G>A	NM_015047.2	NP_055862.1:p.(Arg105Gln)	NC_000001.10:g.19570174C>T	VUS	1 lab	7eda2170c3
21:47786694 PCNT G>A	21	47786694	47786694	G	A	PCNT	c.2805G>A	NM_006031.5	NP_006022.3:p.(Glu935=)	NC_000021.8:g.47786694G>A	(Likely) benign	1 lab	7edaea9122
17:29665722 NF1 GC>G	17	29665722	29665723	GC	G	NF1	c.6821del	NM_001042492.3	NP_001035957.1:p.(Ala2274AspfsTer6)	NC_000017.10:g.29665723del	(Likely) pathogenic	1 lab	7edaed27b4
16:49671509 ZNF423 G>C	16	49671509	49671509	G	C	ZNF423	c.1374C>G	NM_001271620.2	NP_001258549.1:p.(Phe458Leu)	NC_000016.9:g.49671509G>C	VUS	1 lab	7edc8fb9ed
11:103080631 DYNC2H1 A>C	11	103080631	103080631	A	C	DYNC2H1	c.8481A>C	NM_001080463.1	NP_001073932.1:p.(Thr2827=)	NC_000011.9:g.103080631A>C	(Likely) benign	1 lab	7edc9aca38
15:51868292 DMXL2 G>C	15	51868292	51868292	G	C	DMXL2	c.174C>G	NM_001174116.1	NP_001167587.1:p.(Ile58Met)	NC_000015.9:g.51868292G>C	VUS	1 lab	7ee042c1af
8:143956499 CYP11B1 G>A	8	143956499	143956499	G	A	CYP11B1	c.1272C>T	NM_000497.3	NP_000488.3:p.(Asn424=)	NC_000008.10:g.143956499G>A	(Likely) benign	1 lab	7ee0fb31fb
17:44592258 LRRC37A2 T>G	17	44592258	44592258	T	G	LRRC37A2	c.2180T>G	NM_001006607.2	NP_001006608.2:p.(Ile727Arg)	NC_000017.10:g.44592258T>G	VUS	1 lab	7ee1cc2da4
12:113357295 OAS1 C>T	12	113357295	113357295	C	T	OAS1	c.1042C>T	NM_001032409.2	NP_001027581.1:p.(Gln348Ter)	NC_000012.11:g.113357295C>T	VUS	1 lab	7ee3db674d
15:28327046 OCA2 G>A	15	28327046	28327046	G	A	OCA2	c.-21-5C>T	NM_000275.2	NP_000266.2:p.?	NC_000015.9:g.28327046G>A	(Likely) benign	1 lab	7ee89d213a
1:63050459 DOCK7 T>TA	1	63050459	63050462	T	TA	DOCK7	c.1890dup	NM_001272002.1	NP_001258931.1:p.(Ile631TyrfsTer16)	NC_000001.10:g.63050462dup	(Likely) pathogenic	1 lab	7ee95a4828
6:90338912 ANKRD6 GCCTGCAGAGCTAAATCCACA>G	6	90338912	90338934	GCCTGCAGAGCTAAATCCACA	G	ANKRD6	c.1570_1589del	NM_001242809.2	NP_001229738.1:p.(Cys524IlefsTer4)	NC_000006.11:g.90338915_90338934del	VUS	1 lab	7ee9ab3639
1:220445634 RAB3GAP2 C>T	1	220445634	220445634	C	T	RAB3GAP2	c.46G>A	NM_012414.3	NP_036546.2:p.(Ala16Thr)	NC_000001.10:g.220445634C>T	(Likely) benign	1 lab	7eed06e7a4
14:105353560 CEP170B C>T	14	105353560	105353560	C	T	CEP170B	c.2984C>T	NM_001112726.3	NP_001106197.1:p.(Pro995Leu)	NC_000014.8:g.105353560C>T	(Likely) benign	1 lab	7ef122b447
2:179416833 TTN C>T	2	179416833	179416833	C	T	TTN	c.90794G>A	NM_001267550.1	NP_001254479.1:p.(Arg30265Gln)	NC_000002.11:g.179416833C>T	VUS	1 lab	7ef36fcfb2
16:14676068 PARN G>A	16	14676068	14676068	G	A	PARN	c.1162C>T	NM_002582.4	NP_002573.1:p.(Leu388=)	NC_000016.9:g.14676068G>A	(Likely) benign	1 lab	7ef39d076b
1:22163370 HSPG2 C>T	1	22163370	22163370	C	T	HSPG2	c.10283G>A	NM_001291860.1	NP_001278789.1:p.(Arg3428Gln)	NC_000001.10:g.22163370C>T	VUS	1 lab	7ef5a44292
14:71209240 MAP3K9 C>A	14	71209240	71209240	C	A	MAP3K9	c.1395G>T	NM_033141.3	NP_149132.2:p.(Leu465=)	NC_000014.8:g.71209240C>A	(Likely) benign	1 lab	7ef60b11c2
X:77224422 PGAM4 C>T	X	77224422	77224422	C	T	PGAM4	c.714G>A	NM_001029891.2	NP_001025062.1:p.(Thr238=)	NC_000023.10:g.77224422C>T	(Likely) benign	1 lab	7ef6c8462e
7:82582664 PCLO G>A	7	82582664	82582664	G	A	PCLO	c.7605C>T	NM_033026.5	NP_149015.2:p.(Gly2535=)	NC_000007.13:g.82582664G>A	(Likely) benign	1 lab	7ef6d3ff7e
15:62234102 VPS13C T>C	15	62234102	62234102	T	C	VPS13C	c.5313A>G	NM_001018088.2	NP_001018098.1:p.(Ser1771=)	NC_000015.9:g.62234102T>C	(Likely) benign	1 lab	7ef7cb9199
20:5099468 PCNA G>A	20	5099468	5099468	G	A	PCNA	c.266C>T	NM_002592.2	NP_002583.1:p.(Thr89Ile)	NC_000020.10:g.5099468G>A	VUS	1 lab	7ef82d0500
X:31893385 DMD G>T	X	31893385	31893385	G	T	DMD	c.7018C>A	NM_004006.3	NP_003997.2:p.(Leu2340Met)	NC_000023.10:g.31893385G>T	VUS	1 lab	f9c0b1edf9
3:168834483 MECOM G>A	3	168834483	168834483	G	A	MECOM	c.613C>T	NM_001164000.2	NP_001157472.1:p.(Arg205Cys)	NC_000003.11:g.168834483G>A	VUS	1 lab	f9c10db7d0
2:38917038 GALM T>C	2	38917038	38917038	T	C	GALM	c.634+2T>C	NM_138801.3	NP_620156.1:p.?	NC_000002.11:g.38917038T>C	(Likely) pathogenic	1 lab	7efcc2190d
19:18271764 PIK3R2 C>T	19	18271764	18271764	C	T	PIK3R2	c.451C>T	NM_005027.3	NP_005018.1:p.(Pro151Ser)	NC_000019.9:g.18271764C>T	VUS	1 lab	7efd104157
9:131394972 SPTAN1 A>G	9	131394972	131394972	A	G	SPTAN1	c.7135A>G	NM_001130438.3	NP_001123910.1:p.(Ile2379Val)	NC_000009.11:g.131394972A>G	(Likely) benign	1 lab	f9c4c32a96
11:103128370 DYNC2H1 G>A	11	103128370	103128370	G	A	DYNC2H1	c.10516G>A	NM_001080463.2	NP_001073932.1:p.(Ala3506Thr)	NC_000011.9:g.103128370G>A	(Likely) pathogenic	1 lab	f9c59973df
X:119580216 LAMP2 CA>C	X	119580216	119580217	CA	C	LAMP2	c.807del	NM_002294.3	NP_002285.1:p.(Ala270LeufsTer13)	NC_000023.10:g.119580217del	(Likely) pathogenic	1 lab	f9c5b8d75d
17:73831510 UNC13D G>A	17	73831510	73831510	G	A	UNC13D	c.1828C>T	NM_199242.2	NP_954712.1:p.(Arg610Cys)	NC_000017.10:g.73831510G>A	VUS	1 lab	7f0150154e
4:103561008 MANBA G>A	4	103561008	103561008	G	A	MANBA	c.1876C>T	NM_005908.3	NP_005899.3:p.(Gln626Ter)	NC_000004.11:g.103561008G>A	VUS	1 lab	7f01adea6f
11:72119202 CLPB C>A	11	72119202	72119202	C	A	CLPB	c.260G>T	NM_001258394.2	NP_001245323.1:p.(Gly87Val)	NC_000011.9:g.72119202C>A	(Likely) benign	1 lab	7f02999177
4:15538657 CC2D2A C>T	4	15538657	15538657	C	T	CC2D2A	c.1722C>T	NM_001080522.2	NP_001073991.2:p.(Tyr574=)	NC_000004.11:g.15538657C>T	(Likely) benign	1 lab	7f02fc1937
7:16460840 CRPPA G>A	7	16460840	16460840	G	A	CRPPA	c.108C>T	NM_001101426.3	NP_001094896.1:p.(Ala36=)	NC_000007.13:g.16460840G>A	(Likely) benign	1 lab	7f06538b95
2:107039558 RGPD3 G>C	2	107039558	107039558	G	C	RGPD3	c.4865C>G	NM_001144013.1	NP_001137485.1:p.(Ser1622Cys)	NC_000002.11:g.107039558G>C	(Likely) benign	1 lab	7f06b47499
X:130409472 IGSF1 G>A	X	130409472	130409472	G	A	IGSF1	c.3179C>T	NM_001170961.1	NP_001164432.1:p.(Thr1060Ile)	NC_000023.10:g.130409472G>A	VUS	1 lab	7f07374a1a
7:148464770 CUL1 A>C	7	148464770	148464770	A	C	CUL1	c.1012A>C	NM_003592.3	NP_003583.2:p.(Lys338Gln)	NC_000007.13:g.148464770A>C	VUS	1 lab	7f08900e8c
17:29497016 NF1 G>A	17	29497016	29497016	G	A	NF1	c.586+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29497016G>A	(Likely) pathogenic	1 lab	7f0903cfeb
8:95143167 CDH17 C>T	8	95143167	95143167	C	T	CDH17	c.2221G>A	NM_001144663.1	NP_001138135.1:p.(Val741Ile)	NC_000008.10:g.95143167C>T	(Likely) benign	1 lab	7f09b16324
8:24254922 ADAMDEC1 G>A	8	24254922	24254922	G	A	ADAMDEC1	c.343G>A	NM_001145271.1	NP_001138743.1:p.(Gly115Arg)	NC_000008.10:g.24254922G>A	(Likely) benign	1 lab	7f09b7eb90
1:204226549 PLEKHA6 G>A	1	204226549	204226549	G	A	PLEKHA6	c.1456C>T	NM_014935.5	NP_055750.2:p.(Pro486Ser)	NC_000001.10:g.204226549G>A	VUS	1 lab	7f0aedaaad
17:29556178 NF1 G>T	17	29556178	29556178	G	T	NF1	c.2545G>T	NM_000267.3	NP_000258.1:p.(Gly849Ter)	NC_000017.10:g.29556178G>T	(Likely) pathogenic	1 lab	7f0c751c9d
14:23902340 MYH7 C>T	14	23902340	23902340	C	T	MYH7	c.298G>A	NM_000257.2	NP_000248.2:p.(Ala100Thr)	NC_000014.8:g.23902340C>T	VUS	1 lab	7f0d5fd773
11:118360900 KMT2A G>A	11	118360900	118360900	G	A	KMT2A	c.4632G>A	NM_001197104.1	NP_001184033.1:p.(Gly1544=)	NC_000011.9:g.118360900G>A	(Likely) benign	1 lab	7f0f2e1744
17:3912183 ZZEF1 C>T	17	3912183	3912183	C	T	ZZEF1	c.8799G>A	NM_015113.4	NP_055928.3:p.(Ala2933=)	NC_000017.10:g.3912183C>T	(Likely) benign	1 lab	7f13391ca8
10:102770289 PDZD7 C>T	10	102770289	102770289	C	T	PDZD7	c.2357G>A	NM_001195263.1	NP_001182192.1:p.(Arg786Gln)	NC_000010.10:g.102770289C>T	(Likely) benign	1 lab	7f13833984
14:75513502 MLH3 T>C	14	75513502	75513502	T	C	MLH3	c.2857A>G	NM_001040108.1	NP_001035197.1:p.(Thr953Ala)	NC_000014.8:g.75513502T>C	(Likely) benign	1 lab	7f16021f89
19:51294994 ACP4 C>T	19	51294994	51294994	C	T	ACP4	c.385C>T	NM_033068.2	NP_149059.1:p.(Pro129Ser)	NC_000019.9:g.51294994C>T	VUS	1 lab	7f177f8151
6:56323828 DST T>C	6	56323828	56323828	T	C	DST	c.17003A>G	NM_001144769.2	NP_001138241.1:p.(Lys5668Arg)	NC_000006.11:g.56323828T>C	VUS	1 lab	7f180a6fa0
17:56811560 RAD51C C>T	17	56811560	56811560	C	T	RAD51C	c.1108C>T	NM_058216.3	NP_478123.1:p.(Arg370Ter)	NC_000017.10:g.56811560C>T	VUS	1 lab	f9c840ef0f
9:138676354 KCNT1 TCCCTCCCTCCCTCCC>T	9	138676354	138676369	TCCCTCCCTCCCTCCC	T	KCNT1	c.2944-26_2944-12del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138676355_138676369del	(Likely) benign	1 lab	f9c84bd612
12:80730793 OTOGL A>G	12	80730793	80730793	A	G	OTOGL	c.4833+9A>G	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80730793A>G	(Likely) benign	1 lab	7f1ae09ecc
19:45860637 ERCC2 G>A	19	45860637	45860637	G	A	ERCC2	c.1378-8C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45860637G>A	(Likely) benign	1 lab	7f1b05a275
22:38153720 TRIOBP C>T	22	38153720	38153720	C	T	TRIOBP	c.5788C>T	NM_001039141.2	NP_001034230.1:p.(Arg1930Trp)	NC_000022.10:g.38153720C>T	VUS	1 lab	7f1c778a3e
9:439392 DOCK8 A>G	9	439392	439392	A	G	DOCK8	c.5223+4A>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.439392A>G	VUS	1 lab	7f1e26950c
X:149931153 MTMR1 G>A	X	149931153	149931153	G	A	MTMR1	c.1973G>A	NM_001306144.3	NP_001293073.1:p.(Arg658Gln)	NC_000023.10:g.149931153G>A	VUS	1 lab	7f1fb96cd7
14:24551765 NRL A>G	14	24551765	24551765	A	G	NRL	c.293T>C	NM_006177.4	NP_006168.1:p.(Leu98Pro)	NC_000014.8:g.24551765A>G	VUS	1 lab	7f207e57e0
17:20799254 CCDC144NL G>C	17	20799254	20799254	G	C	CCDC144NL	c.80C>G	NM_001004306.2	NP_001004306.1:p.(Pro27Arg)	NC_000017.10:g.20799254G>C	VUS	1 lab	7f20978b7b
12:40653340 LRRK2 C>T	12	40653340	40653340	C	T	LRRK2	c.1477C>T	NM_198578.3	NP_940980.3:p.(Arg493Cys)	NC_000012.11:g.40653340C>T	(Likely) benign	1 lab	7f2097beb5
6:111694830 REV3L C>T	6	111694830	111694830	C	T	REV3L	c.4494G>A	NM_001286431.1	NP_001273360.1:p.(Ser1498=)	NC_000006.11:g.111694830C>T	(Likely) benign	1 lab	7f20e5fe46
16:57953122 CNGB1 G>A	16	57953122	57953122	G	A	CNGB1	c.1838C>T	NM_001297.4	NP_001288.3:p.(Thr613Ile)	NC_000016.9:g.57953122G>A	VUS	1 lab	7f219090e3
X:37587647 XK C>T	X	37587647	37587647	C	T	XK	c.1267C>T	NM_021083.4	NP_066569.1:p.(Pro423Ser)	NC_000023.10:g.37587647C>T	(Likely) benign	1 lab	7f21a18ce4
5:70806131 BDP1 G>C	5	70806131	70806131	G	C	BDP1	c.3212G>C	NM_018429.2	NP_060899.2:p.(Ser1071Thr)	NC_000005.9:g.70806131G>C	(Likely) benign	1 lab	7f23a28507
19:30193640 C19orf12 G>A	19	30193640	30193640	G	A	C19orf12	c.213C>T	NM_001282931.1	NP_001269860.1:p.(Ala71=)	NC_000019.9:g.30193640G>A	(Likely) benign	1 lab	7f2481829f
11:66457681 SPTBN2 C>T	11	66457681	66457681	C	T	SPTBN2	c.5639G>A	NM_006946.3	NP_008877.1:p.(Arg1880His)	NC_000011.9:g.66457681C>T	(Likely) benign	1 lab	7f261ce281
18:31320229 ASXL3 A>G	18	31320229	31320229	A	G	ASXL3	c.2861A>G	NM_030632.3	NP_085135.1:p.(Asn954Ser)	NC_000018.9:g.31320229A>G	(Likely) benign	1 lab	f9d21ca5c6
12:41312535 CNTN1 C>T	12	41312535	41312535	C	T	CNTN1	c.189C>T	NM_001843.3	NP_001834.2:p.(Leu63=)	NC_000012.11:g.41312535C>T	(Likely) benign	1 lab	7f28188e64
X:153690592 PLXNA3 A>G	X	153690592	153690592	A	G	PLXNA3	c.1259A>G	NM_017514.4	NP_059984.3:p.(Tyr420Cys)	NC_000023.10:g.153690592A>G	VUS	1 lab	7f29087912
8:144994233 PLEC C>T	8	144994233	144994233	C	T	PLEC	c.10167G>A	NM_201380.3	NP_958782.1:p.(Thr3389=)	NC_000008.10:g.144994233C>T	(Likely) benign	1 lab	7f2994df0d
16:23619273 PALB2 G>A	16	23619273	23619273	G	A	PALB2	c.3262C>T	NM_024675.3	NP_078951.2:p.(Pro1088Ser)	NC_000016.9:g.23619273G>A	VUS	1 lab	7f29bab84b
X:107334640 PSMD10 G>A	X	107334640	107334640	G	A	PSMD10	c.111C>T	NM_002814.3	NP_002805.1:p.(Asp37=)	NC_000023.10:g.107334640G>A	(Likely) benign	1 lab	7f2c788d09
17:1264520 YWHAE G>A	17	1264520	1264520	G	A	YWHAE	c.444C>T	NM_006761.4	NP_006752.1:p.(Ser148=)	NC_000017.10:g.1264520G>A	(Likely) benign	1 lab	7f2ca3b38d
1:228346449 GJC2 G>C	1	228346449	228346449	G	C	GJC2	c.990G>C	NM_020435.3	NP_065168.2:p.(Pro330=)	NC_000001.10:g.228346449G>C	(Likely) benign	1 lab	7f2faadb29
2:160983033 ITGB6 C>T	2	160983033	160983033	C	T	ITGB6	c.1740G>A	NM_000888.4	NP_000879.2:p.(Thr580=)	NC_000002.11:g.160983033C>T	(Likely) benign	1 lab	7f30830e4e
9:34650356 GALT C>T	9	34650356	34650356	C	T	GALT	c.1060-10C>T	NM_000155.3	NP_000146.2:p.?	NC_000009.11:g.34650356C>T	(Likely) benign	1 lab	7f3291434b
18:56203074 ALPK2 G>A	18	56203074	56203074	G	A	ALPK2	c.4345C>T	NM_052947.4	NP_443179.3:p.(Pro1449Ser)	NC_000018.9:g.56203074G>A	(Likely) benign	1 lab	7f32c51ca8
7:4827857 AP5Z1 C>T	7	4827857	4827857	C	T	AP5Z1	c.1527C>T	NM_014855.3	NP_055670.1:p.(Phe509=)	NC_000007.13:g.4827857C>T	(Likely) benign	1 lab	7f333e8383
1:237897038 RYR2 T>C	1	237897038	237897038	T	C	RYR2	c.11073T>C	NM_001035.2	NP_001026.2:p.(Tyr3691=)	NC_000001.10:g.237897038T>C	(Likely) benign	1 lab	7f346cfc27
2:190618698 OSGEPL1 G>A	2	190618698	190618698	G	A	OSGEPL1	c.907C>T	NM_022353.3	NP_071748.2:p.(Arg303Trp)	NC_000002.11:g.190618698G>A	VUS	1 lab	7f348e415a
7:117251692 CFTR G>A	7	117251692	117251692	G	A	CFTR	c.3197G>A	NM_000492.3	NP_000483.3:p.(Arg1066His)	NC_000007.13:g.117251692G>A	(Likely) pathogenic	1 lab	7f359771a0
1:65858222 DNAJC6 A>G	1	65858222	65858222	A	G	DNAJC6	c.1577A>G	NM_001256864.2	NP_001243793.1:p.(Asn526Ser)	NC_000001.10:g.65858222A>G	(Likely) benign	1 lab	7f3652b3de
12:53183880 KRT3 G>C	12	53183880	53183880	G	C	KRT3	c.1833C>G	NM_057088.2	NP_476429.2:p.(Gly611=)	NC_000012.11:g.53183880G>C	(Likely) benign	1 lab	7f36e0d590
12:104081963 STAB2 C>T	12	104081963	104081963	C	T	STAB2	c.3015C>T	NM_017564.10	NP_060034.9:p.(Ser1005=)	NC_000012.11:g.104081963C>T	(Likely) benign	1 lab	7f374e054c
22:42524333 CYP2D6 A>G	22	42524333	42524333	A	G	CYP2D6	c.686T>C	NM_000106.6	NP_000097.3:p.(Val229Ala)	NC_000022.10:g.42524333A>G	(Likely) benign	1 lab	7f37576712
15:42143098 SPTBN5 G>A	15	42143098	42143098	G	A	SPTBN5	c.10875C>T	NM_016642.4	NP_057726.4:p.(Ser3625=)	NC_000015.9:g.42143098G>A	(Likely) benign	1 lab	7f38c5d532
X:152966420 BCAP31 T>A	X	152966420	152966420	T	A	BCAP31	c.914A>T	NM_001139457.2	NP_001132929.1:p.(Asp305Val)	NC_000023.10:g.152966420T>A	(Likely) benign	1 lab	7f3a228c08
11:32657291 CCDC73 T>C	11	32657291	32657291	T	C	CCDC73	c.1136A>G	NM_001008391.3	NP_001008392.2:p.(Tyr379Cys)	NC_000011.9:g.32657291T>C	VUS	1 lab	7f3a8317b4
18:47769423 CFAP53 T>C	18	47769423	47769423	T	C	CFAP53	c.1060A>G	NM_145020.4	NP_659457.2:p.(Lys354Glu)	NC_000018.9:g.47769423T>C	VUS	1 lab	7f3b8648e7
16:88502952 ZNF469 G>T	16	88502952	88502952	G	T	ZNF469				NC_000016.9:g.88502952G>T	VUS	1 lab	7f3da21eb5
10:79744020 POLR3A G>A	10	79744020	79744020	G	A	POLR3A	c.3279C>T	NM_007055.3	NP_008986.2:p.(Asp1093=)	NC_000010.10:g.79744020G>A	(Likely) benign	1 lab	7f3f54219d
6:121768182 GJA1 T>C	6	121768182	121768182	T	C	GJA1	c.189T>C	NM_000165.5	NP_000156.1:p.(Asn63=)	NC_000006.11:g.121768182T>C	(Likely) benign	1 lab	7f3f7e53b4
17:18030426 MYO15A C>T	17	18030426	18030426	C	T	MYO15A	c.3979C>T	NM_016239.3	NP_057323.3:p.(Leu1327=)	NC_000017.10:g.18030426C>T	(Likely) benign	1 lab	7f400a7ebd
11:64415766 NRXN2 C>T	11	64415766	64415766	C	T	NRXN2	c.3328G>A	NM_015080.3	NP_055895.1:p.(Val1110Ile)	NC_000011.9:g.64415766C>T	VUS	1 lab	7f40e2366d
9:117266574 WHRN G>C	9	117266574	117266574	G	C	WHRN	c.508C>G	NM_015404.3	NP_056219.3:p.(Leu170Val)	NC_000009.11:g.117266574G>C	VUS	1 lab	7f40f9164f
14:94776154 SERPINA6 G>T	14	94776154	94776154	G	T	SERPINA6	c.803C>A	NM_001756.3	NP_001747.2:p.(Pro268Gln)	NC_000014.8:g.94776154G>T	VUS	1 lab	7f421b952e
9:135804107 TSC1 T>G	9	135804107	135804107	T	G	TSC1	c.106+47A>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135804107T>G	(Likely) benign	1 lab	7f43c94f9b
10:70748666 KIFBP A>G	10	70748666	70748666	A	G	KIFBP	c.78A>G	NM_015634.3	NP_056449.1:p.(Lys26=)	NC_000010.10:g.70748666A>G	(Likely) benign	1 lab	7f458812d4
15:51828404 DMXL2 T>C	15	51828404	51828404	T	C	DMXL2	c.2273A>G	NM_001174116.1	NP_001167587.1:p.(Asn758Ser)	NC_000015.9:g.51828404T>C	VUS	1 lab	7f4852c224
17:3680953 ITGAE G>A	17	3680953	3680953	G	A	ITGAE	c.36C>T	NM_002208.5	NP_002199.3:p.(Ser12=)	NC_000017.10:g.3680953G>A	VUS	1 lab	7f48f25aee
15:99467942 IGF1R GGT>G	15	99467942	99467944	GGT	G	IGF1R	c.2782+30_2782+31del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467943_99467944del	(Likely) benign	1 lab	7f49039f4d
8:74893535 TMEM70 C>A	8	74893535	74893535	C	A	TMEM70	c.462C>A	NM_017866.6	NP_060336.3:p.(Ile154=)	NC_000008.10:g.74893535C>A	(Likely) benign	1 lab	7f499b4aeb
2:240085543 HDAC4 C>T	2	240085543	240085543	C	T	HDAC4	c.567G>A	NM_006037.3	NP_006028.2:p.(Arg189=)	NC_000002.11:g.240085543C>T	(Likely) benign	1 lab	7f4a177414
10:61932113 ANK3 C>A	10	61932113	61932113	C	A	ANK3	c.2431G>T	NM_020987.5	NP_066267.2:p.(Val811Leu)	NC_000010.10:g.61932113C>A	VUS	1 lab	7f4ae8fa2e
1:200587038 KIF14 T>A	1	200587038	200587038	T	A	KIF14	c.814A>T	NM_014875.2	NP_055690.1:p.(Ser272Cys)	NC_000001.10:g.200587038T>A	VUS	1 lab	7f4c2f5a94
16:89986133 MC1R T>C	16	89986133	89986133	T	C	MC1R	c.467T>C	NM_002386.3	NP_002377.4:p.(Val156Ala)	NC_000016.9:g.89986133T>C	VUS	1 lab	7f4c425e96
21:34715894 IFNAR1 G>A	21	34715894	34715894	G	A	IFNAR1	c.585G>A	NM_000629.3	NP_000620.2:p.(Glu195=)	NC_000021.8:g.34715894G>A	(Likely) benign	1 lab	7f4c7e5565
6:88227927 RARS2 G>A	6	88227927	88227927	G	A	RARS2	c.946C>T	NM_001350508.1	NP_001337437.1:p.(Gln316Ter)	NC_000006.11:g.88227927G>A	(Likely) pathogenic	1 lab	7f4da2edb4
4:158282733 GRIA2 G>A	4	158282733	158282733	G	A	GRIA2	c.2335G>A	NM_000826.3	NP_000817.2:p.(Val779Ile)	NC_000004.11:g.158282733G>A	VUS	1 lab	7f5009086b
16:2129122 TSC2 A>AC	16	2129122	2129124	A	AC	TSC2	c.3058dup	NM_000548.3	NP_000539.2:p.(Leu1020ProfsTer148)	NC_000016.9:g.2129124dup	(Likely) pathogenic	1 lab	7f505ab495
15:42155970 SPTBN5 C>T	15	42155970	42155970	C	T	SPTBN5	c.7081G>A	NM_016642.4	NP_057726.4:p.(Glu2361Lys)	NC_000015.9:g.42155970C>T	VUS	1 lab	7f51da6b3f
10:12139867 DHTKD1 C>T	10	12139867	12139867	C	T	DHTKD1	c.1543C>T	NM_018706.6	NP_061176.3:p.(Pro515Ser)	NC_000010.10:g.12139867C>T	VUS	1 lab	7f53b4491b
16:70316541 AARS1 G>A	16	70316541	70316541	G	A	AARS1	c.126C>T	NM_001605.2	NP_001596.2:p.(Ala42=)	NC_000016.9:g.70316541G>A	(Likely) benign	1 lab	7f547742fe
4:103188673 SLC39A8 A>C	4	103188673	103188673	A	C	SLC39A8	c.1207T>G	NM_001135147.1	NP_001128619.1:p.(Phe403Val)	NC_000004.11:g.103188673A>C	VUS	1 lab	7f5577e671
6:112455708 LAMA4 A>G	6	112455708	112455708	A	G	LAMA4	c.3518T>C	NM_001105206.2	NP_001098676.2:p.(Ile1173Thr)	NC_000006.11:g.112455708A>G	VUS	1 lab	7f56e68c5c
15:89073911 DET1 C>A	15	89073911	89073911	C	A	DET1	c.1059G>T	NM_017996.4	NP_060466.2:p.(Leu353=)	NC_000015.9:g.89073911C>A	(Likely) benign	1 lab	7f573ba4af
X:37527662 LANCL3 A>G	X	37527662	37527662	A	G	LANCL3	c.1145A>G	NM_198511.2	NP_940913.1:p.(Tyr382Cys)	NC_000023.10:g.37527662A>G	(Likely) benign	1 lab	7f57abc561
17:4910793 KIF1C G>A	17	4910793	4910793	G	A	KIF1C	c.1447G>A	NM_006612.5	NP_006603.2:p.(Val483Ile)	NC_000017.10:g.4910793G>A	VUS	1 lab	7f57affe7f
3:108295162 CIP2A C>CT	3	108295162	108295164	C	CT	CIP2A	c.849dup	NM_020890.3	NP_065941.2:p.(Val284SerfsTer6)	NC_000003.11:g.108295164dup	VUS	1 lab	7f58ab3215
X:110931141 ALG13 T>C	X	110931141	110931141	T	C	ALG13	c.98T>C	NM_001257240.2	NP_001244169.1:p.(Met33Thr)	NC_000023.10:g.110931141T>C	VUS	1 lab	7f5aa1cffc
9:135802555 TSC1 C>T	9	135802555	135802555	C	T	TSC1	c.210+33G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135802555C>T	(Likely) benign	1 lab	7f5bfe245d
1:215813905 USH2A T>C	1	215813905	215813905	T	C	USH2A	c.14963A>G	NM_206933.2	NP_996816.2:p.(Asp4988Gly)	NC_000001.10:g.215813905T>C	VUS	1 lab	7f5c072e34
9:135776214 TSC1 CTGTT>C	9	135776214	135776220	CTGTT	C	TSC1	c.2509_2512del	NM_000368.5	NP_000359.1:p.(Asn837ValfsTer11)	NC_000009.11:g.135776217_135776220del	(Likely) pathogenic	1 lab	7f5c0e9632
16:89357538 ANKRD11 C>G	16	89357538	89357538	C	G	ANKRD11	c.280G>C	NM_001256182.1	NP_001243111.1:p.(Ala94Pro)	NC_000016.9:g.89357538C>G	(Likely) benign	1 lab	7f5c4dadf7
10:43606657 RET C>G	10	43606657	43606657	C	G	RET	c.1266C>G	NM_020975.6	NP_066124.1:p.(Ile422Met)	NC_000010.10:g.43606657C>G	VUS	1 lab	f9d7b4e939
3:33109738 GLB1 GAGA>G	3	33109738	33109745	GAGA	G	GLB1	c.438_440del	NM_000404.4	NP_000395.3:p.(Leu147del)	NC_000003.11:g.33109743_33109745del	(Likely) pathogenic	1 lab	7f5e1b014e
X:101911224 GPRASP1 G>C	X	101911224	101911224	G	C	GPRASP1	c.2383G>C	NM_001184727.1	NP_001171656.1:p.(Ala795Pro)	NC_000023.10:g.101911224G>C	VUS	1 lab	7f5e9a43e7
3:33138547 GLB1 G>C	3	33138547	33138547	G	C	GLB1	c.31C>G	NM_001317040.1	NP_001303969.1:p.(Leu11Val)	NC_000003.11:g.33138547G>C	(Likely) benign	1 lab	7f5fee05ae
7:99802954 STAG3 C>T	7	99802954	99802954	C	T	STAG3	c.3185C>T	NM_001282717.1	NP_001269646.1:p.(Thr1062Ile)	NC_000007.13:g.99802954C>T	VUS	1 lab	7f622ae50e
X:153218166 HCFC1 C>G	X	153218166	153218166	C	G	HCFC1	c.4741G>C	NM_005334.2	NP_005325.2:p.(Glu1581Gln)	NC_000023.10:g.153218166C>G	(Likely) benign	1 lab	7f62d7a427
17:18046935 MYO15A TG>T	17	18046935	18046938	TG	T	MYO15A	c.5964+5del	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18046938del	VUS	1 lab	7f63fc2318
10:123279629 FGFR2 G>A	10	123279629	123279629	G	A	FGFR2	c.803C>T	NM_000141.4	NP_000132.3:p.(Thr268Ile)	NC_000010.10:g.123279629G>A	(Likely) benign	1 lab	7f650bf348
X:9714171 GPR143 C>T	X	9714171	9714171	C	T	GPR143	c.571G>A	NM_000273.2	NP_000264.2:p.(Ala191Thr)	NC_000023.10:g.9714171C>T	VUS	1 lab	7f659fb87c
X:55039959 ALAS2 G>T	X	55039959	55039959	G	T	ALAS2	c.1521C>A	NM_001037968.3	NP_001033057.1:p.(Pro507=)	NC_000023.10:g.55039959G>T	(Likely) benign	1 lab	7f65f8d9e5
10:73485180 CDH23 G>A	10	73485180	73485180	G	A	CDH23	c.3482G>A	NM_022124.5	NP_071407.4:p.(Arg1161Gln)	NC_000010.10:g.73485180G>A	VUS	1 lab	7f6803bf81
10:78787592 KCNMA1 G>A	10	78787592	78787592	G	A	KCNMA1	c.1917C>T	NM_001322830.1	NP_001309759.1:p.(Asn639=)	NC_000010.10:g.78787592G>A	(Likely) benign	1 lab	7f684c3243
3:72427579 RYBP G>A	3	72427579	72427579	G	A	RYBP	c.431C>T	NM_012234.6	NP_036366.3:p.(Ser144Leu)	NC_000003.11:g.72427579G>A	VUS	1 lab	f9db535f53
3:14190239 XPC G>A	3	14190239	14190239	G	A	XPC	c.2251-8C>T	NM_004628.4	NP_004619.3:p.?	NC_000003.11:g.14190239G>A	(Likely) benign	1 lab	7f6a181ec4
22:21241963 SNAP29 G>A	22	21241963	21241963	G	A	SNAP29	c.620-4G>A	NM_004782.3	NP_004773.1:p.?	NC_000022.10:g.21241963G>A	(Likely) benign	1 lab	7f6a581b67
4:113333173 ALPK1 T>C	4	113333173	113333173	T	C	ALPK1	c.467T>C	NM_025144.4	NP_079420.3:p.(Val156Ala)	NC_000004.11:g.113333173T>C	(Likely) benign	1 lab	7f6a720d5e
8:90982610 NBN A>G	8	90982610	90982610	A	G	NBN	c.878T>C	NM_002485.4	NP_002476.2:p.(Ile293Thr)	NC_000008.10:g.90982610A>G	VUS	1 lab	7f6c8abda9
13:103515379 ERCC5 C>A	13	103515379	103515379	C	A	ERCC5	c.1880C>A	NM_000123.3	NP_000114.2:p.(Ala627Glu)	NC_000013.10:g.103515379C>A	VUS	1 lab	7f6d553eac
X:75004797 MAGEE2 G>A	X	75004797	75004797	G	A	MAGEE2	c.90C>T	NM_138703.4	NP_619648.1:p.(Asn30=)	NC_000023.10:g.75004797G>A	(Likely) benign	1 lab	7f6d5666d8
1:182025819 ZNF648 T>C	1	182025819	182025819	T	C	ZNF648	c.1327A>G	NM_001009992.1	NP_001009992.1:p.(Thr443Ala)	NC_000001.10:g.182025819T>C	VUS	1 lab	7f6e90ac17
13:49030387 RB1 G>A	13	49030387	49030387	G	A	RB1	c.1862G>A	NM_000321.2	NP_000312.2:p.(Arg621His)	NC_000013.10:g.49030387G>A	VUS	1 lab	7f6f641165
16:2138231 TSC2 G>C	16	2138231	2138231	G	C	TSC2	c.5164G>C	NM_000548.3	NP_000539.2:p.(Ala1722Pro)	NC_000016.9:g.2138231G>C	(Likely) pathogenic	1 lab	7f6fb5406f
6:116949359 RSPH4A G>A	6	116949359	116949359	G	A	RSPH4A	c.1489G>A	NM_001010892.2	NP_001010892.1:p.(Val497Ile)	NC_000006.11:g.116949359G>A	(Likely) benign	1 lab	7f6feaa58b
6:51875243 PKHD1 C>G	6	51875243	51875243	C	G	PKHD1	c.5615G>C	NM_138694.3	NP_619639.3:p.(Arg1872Thr)	NC_000006.11:g.51875243C>G	VUS	1 lab	7f705891b1
2:186667459 FSIP2 C>T	2	186667459	186667459	C	T	FSIP2	c.13426C>T	NM_173651.3	NP_775922.3:p.(Leu4476=)	NC_000002.11:g.186667459C>T	(Likely) benign	1 lab	7f707f202d
1:204380404 PPP1R15B C>T	1	204380404	204380404	C	T	PPP1R15B	c.136G>A	NM_032833.4	NP_116222.4:p.(Gly46Arg)	NC_000001.10:g.204380404C>T	(Likely) benign	1 lab	7f70bc25dd
17:78055757 CCDC40 C>T	17	78055757	78055757	C	T	CCDC40	c.1889C>T	NM_017950.3	NP_060420.2:p.(Ala630Val)	NC_000017.10:g.78055757C>T	(Likely) benign	1 lab	7f7367e08e
5:135391459 TGFBI C>G	5	135391459	135391459	C	G	TGFBI	c.1501C>G	NM_000358.2	NP_000349.1:p.(Pro501Ala)	NC_000005.9:g.135391459C>G	VUS	1 lab	7f73cdb002
16:16208851 ABCC1 G>A	16	16208851	16208851	G	A	ABCC1	c.3308G>A	NM_004996.3	NP_004987.2:p.(Gly1103Asp)	NC_000016.9:g.16208851G>A	VUS	1 lab	7f74342e7e
X:9728793 GPR143 C>T	X	9728793	9728793	C	T	GPR143	c.324G>A	NM_000273.2	NP_000264.2:p.(Thr108=)	NC_000023.10:g.9728793C>T	(Likely) benign	1 lab	7f74e13aab
17:1944871 DPH1 C>T	17	1944871	1944871	C	T	DPH1	c.1198C>T	NM_001383.4	NP_001374.3:p.(Gln400Ter)	NC_000017.10:g.1944871C>T	(Likely) pathogenic	1 lab	7f74fda92b
2:136567460 LCT G>A	2	136567460	136567460	G	A	LCT	c.2457C>T	NM_002299.2	NP_002290.2:p.(His819=)	NC_000002.11:g.136567460G>A	(Likely) benign	1 lab	7f7546086a
X:39932230 BCOR T>C	X	39932230	39932230	T	C	BCOR	c.2369A>G	NM_001123385.1	NP_001116857.1:p.(Asn790Ser)	NC_000023.10:g.39932230T>C	(Likely) benign	1 lab	7f77a992a8
11:47359277 MYBPC3 C>A	11	47359277	47359277	C	A	MYBPC3	c.2377G>T	NM_000256.3	NP_000247.2:p.(Glu793Ter)	NC_000011.9:g.47359277C>A	(Likely) pathogenic	1 lab	7f7868aa94
2:110905509 NPHP1 ATTCCAAG>A	2	110905509	110905519	ATTCCAAG	A	NPHP1	c.1246_1252del	NM_001128178.3	NP_001121650.1:p.(Leu416PhefsTer14)	NC_000002.11:g.110905513_110905519del	(Likely) pathogenic	1 lab	7f78afe185
1:16259721 SPEN A>G	1	16259721	16259721	A	G	SPEN	c.6986A>G	NM_015001.3	NP_055816.2:p.(Asp2329Gly)	NC_000001.10:g.16259721A>G	VUS	1 lab	f9dd14588f
16:2137898 TSC2 CG>C	16	2137898	2137899	CG	C	TSC2	c.5025del	NM_000548.5	NP_000539.2:p.(Leu1676TrpfsTer150)	NC_000016.9:g.2137899del	(Likely) pathogenic	1 lab	7f79a8a269
13:21331605 EEF1AKMT1 C>T	13	21331605	21331605	C	T	EEF1AKMT1	c.133G>A	NM_174928.2	NP_777588.1:p.(Glu45Lys)	NC_000013.10:g.21331605C>T	VUS	1 lab	7f7ad73579
19:49469547 FTL G>T	19	49469547	49469547	G	T	FTL	c.259G>T	NM_000146.3	NP_000137.2:p.(Glu87Ter)	NC_000019.9:g.49469547G>T	(Likely) pathogenic	1 lab	7f7c0fcf32
20:2644357 IDH3B C>T	20	2644357	2644357	C	T	IDH3B	c.165G>A	NM_006899.4	NP_008830.2:p.(Pro55=)	NC_000020.10:g.2644357C>T	(Likely) benign	1 lab	7f7da2c56b
X:153940821 GAB3 G>A	X	153940821	153940821	G	A	GAB3	c.752C>T	NM_001081573.2	NP_001075042.1:p.(Ser251Leu)	NC_000023.10:g.153940821G>A	(Likely) benign	1 lab	7f7e46b591
15:38591634 SPRED1 G>C	15	38591634	38591634	G	C	SPRED1	c.93G>C	NM_152594.2	NP_689807.1:p.(Trp31Cys)	NC_000015.9:g.38591634G>C	(Likely) pathogenic	1 lab	7f7f106b12
X:76764081 ATRX A>T	X	76764081	76764081	A	T	ATRX	c.7227T>A	NM_000489.5	NP_000480.3:p.(Leu2409=)	NC_000023.10:g.76764081A>T	(Likely) benign	1 lab	7f7f39ca51
X:69247808 EDA G>A	X	69247808	69247808	G	A	EDA	c.628G>A	NM_001399.5	NP_001390.1:p.(Gly210Arg)	NC_000023.10:g.69247808G>A	(Likely) pathogenic	1 lab	f9ddb4e02b
10:30630578 MTPAP G>A	10	30630578	30630578	G	A	MTPAP	c.158-9C>T	NM_018109.3	NP_060579.3:p.?	NC_000010.10:g.30630578G>A	(Likely) benign	1 lab	7f7f6e7ab0
X:100667586 HNRNPH2 A>G	X	100667586	100667586	A	G	HNRNPH2	c.610A>G	NM_001032393.2	NP_001027565.1:p.(Met204Val)	NC_000023.10:g.100667586A>G	(Likely) benign	1 lab	7f8172a5e1
7:4841466 RADIL C>T	7	4841466	4841466	C	T	RADIL	c.2660G>A	NM_018059.4	NP_060529.4:p.(Arg887His)	NC_000007.13:g.4841466C>T	(Likely) benign	1 lab	7f8237d1f7
9:139309043 PMPCA G>T	9	139309043	139309043	G	T	PMPCA	c.476G>T	NM_015160.2	NP_055975.1:p.(Gly159Val)	NC_000009.11:g.139309043G>T	VUS	1 lab	7f83c46e6a
10:54529066 MBL2 C>G	10	54529066	54529066	C	G	MBL2	c.314G>C	NM_000242.2	NP_000233.1:p.(Ser105Thr)	NC_000010.10:g.54529066C>G	(Likely) benign	1 lab	7f851006f3
13:50129660 RCBTB1 G>C	13	50129660	50129660	G	C	RCBTB1	c.15C>G	NM_001352506.1	NP_001339435.1:p.(Asp5Glu)	NC_000013.10:g.50129660G>C	(Likely) benign	1 lab	7f852b110a
15:66273181 MEGF11 G>C	15	66273181	66273181	G	C	MEGF11	c.697C>G	NM_032445.2	NP_115821.2:p.(Pro233Ala)	NC_000015.9:g.66273181G>C	VUS	1 lab	7f877850ea
9:140136196 TUBB4B G>A	9	140136196	140136196	G	A	TUBB4B	c.81G>A	NM_006088.6	NP_006079.1:p.(Glu27=)	NC_000009.11:g.140136196G>A	(Likely) benign	1 lab	7f87bc38ee
9:135778090 TSC1 G>A	9	135778090	135778090	G	A	TSC1	c.2293C>T	NM_000368.4	NP_000359.1:p.(Gln765Ter)	NC_000009.11:g.135778090G>A	(Likely) pathogenic	1 lab	7f88b351dc
3:178916614 PIK3CA A>G	3	178916614	178916614	A	G	PIK3CA	c.1A>G	NM_006218.2	NP_006209.2:p.(Met1?)	NC_000003.11:g.178916614A>G	VUS	1 lab	7f8a462dae
14:105411492 AHNAK2 C>G	14	105411492	105411492	C	G	AHNAK2	c.10296G>C	NM_138420.3	NP_612429.2:p.(Val3432=)	NC_000014.8:g.105411492C>G	(Likely) benign	1 lab	7f8e1b14e4
11:86662543 FZD4 T>C	11	86662543	86662543	T	C	FZD4	c.1255A>G	NM_012193.3	NP_036325.2:p.(Asn419Asp)	NC_000011.9:g.86662543T>C	VUS	1 lab	7f8eecdb6d
X:55650822 FOXR2 C>T	X	55650822	55650822	C	T	FOXR2	c.678C>T	NM_198451.3	NP_940853.1:p.(Phe226=)	NC_000023.10:g.55650822C>T	(Likely) benign	1 lab	7f8f5df6db
5:127488456 SLC12A2 A>C	5	127488456	127488456	A	C	SLC12A2	c.2322A>C	NM_001046.2	NP_001037.1:p.(Ser774=)	NC_000005.9:g.127488456A>C	(Likely) benign	1 lab	7f913e4b86
1:2234421 SKI C>T	1	2234421	2234421	C	T	SKI	c.974C>T	NM_003036.3	NP_003027.1:p.(Ser325Phe)	NC_000001.10:g.2234421C>T	VUS	1 lab	7f91a88d49
12:122693102 DIABLO G>A	12	122693102	122693102	G	A	DIABLO	c.387C>T	NM_001278304.1	NP_001265233.1:p.(Thr129=)	NC_000012.11:g.122693102G>A	(Likely) benign	1 lab	7f97191ac6
8:42128967 IKBKB G>A	8	42128967	42128967	G	A	IKBKB	c.79G>A	NM_001190720.2	NP_001177649.1:p.(Ala27Thr)	NC_000008.10:g.42128967G>A	VUS	1 lab	7f97bff5a9
17:76120673 TMC6 C>A	17	76120673	76120673	C	A	TMC6	c.823G>T	NM_001127198.2	NP_001120670.1:p.(Val275Phe)	NC_000017.10:g.76120673C>A	VUS	1 lab	7f9886d96b
22:50964440 TYMP C>T	22	50964440	50964440	C	T	TYMP	c.1290G>A	NM_001113756.2	NP_001107228.1:p.(Arg430=)	NC_000022.10:g.50964440C>T	(Likely) benign	1 lab	7f9d13d8e0
19:1632336 TCF3 T>A	19	1632336	1632336	T	A	TCF3	c.214A>T	NM_003200.5	NP_003191.1:p.(Ser72Cys)	NC_000019.9:g.1632336T>A	(Likely) benign	1 lab	7fa252e446
X:56591908 UBQLN2 G>A	X	56591908	56591908	G	A	UBQLN2	c.1602G>A	NM_013444.3	NP_038472.2:p.(Thr534=)	NC_000023.10:g.56591908G>A	VUS	1 lab	7fa29edbbe
14:23531487 ACIN1 G>A	14	23531487	23531487	G	A	ACIN1	c.3166-3C>T	NM_014977.3	NP_055792.1:p.?	NC_000014.8:g.23531487G>A	(Likely) benign	1 lab	7fa2d90f24
8:100883869 VPS13B C>T	8	100883869	100883869	C	T	VPS13B	c.11764C>T	NM_017890.4	NP_060360.3:p.(Gln3922Ter)	NC_000008.10:g.100883869C>T	(Likely) pathogenic	1 lab	7fa2f34af3
11:61076494 DDB1 C>T	11	61076494	61076494	C	T	DDB1	c.2622G>A	NM_001923.5	NP_001914.3:p.(Val874=)	NC_000011.9:g.61076494C>T	(Likely) benign	1 lab	f9de540a8b
8:30977831 WRN G>A	8	30977831	30977831	G	A	WRN	c.2521G>A	NM_000553.4	NP_000544.2:p.(Ala841Thr)	NC_000008.10:g.30977831G>A	VUS	1 lab	7fa3b0ec16
1:120458428 NOTCH2 GTC>G	1	120458428	120458430	GTC	G	NOTCH2	c.6915_6916del	NM_024408.4	NP_077719.2:p.(Thr2306PhefsTer6)	NC_000001.10:g.120458429_120458430del	(Likely) pathogenic	1 lab	7fa456791d
21:47571468 FTCD T>C	21	47571468	47571468	T	C	FTCD	c.636+4A>G	NM_001320412.1	NP_001307341.1:p.?	NC_000021.8:g.47571468T>C	VUS	1 lab	7fa733d9a2
6:111693819 REV3L A>C	6	111693819	111693819	A	C	REV3L	c.5505T>G	NM_001286431.1	NP_001273360.1:p.(Ser1835=)	NC_000006.11:g.111693819A>C	(Likely) benign	1 lab	7fa7430283
8:10480518 RP1L1 A>G	8	10480518	10480518	A	G	RP1L1	c.194T>C	NM_178857.5	NP_849188.4:p.(Met65Thr)	NC_000008.10:g.10480518A>G	VUS	1 lab	7fa91ed070
X:114424553 RBMXL3 G>A	X	114424553	114424553	G	A	RBMXL3	c.549G>A	NM_001145346.1	NP_001138818.1:p.(Pro183=)	NC_000023.10:g.114424553G>A	(Likely) benign	1 lab	7fa9951935
3:184046772 EIF4G1 A>G	3	184046772	184046772	A	G	EIF4G1	c.4158A>G	NM_182917.4	NP_886553.3:p.(Lys1386=)	NC_000003.11:g.184046772A>G	(Likely) benign	1 lab	7fa9e60231
15:77057799 SCAPER T>C	15	77057799	77057799	T	C	SCAPER	c.1514-4A>G	NM_001353009.1	NP_001339938.1:p.?	NC_000015.9:g.77057799T>C	VUS	1 lab	7fabfc1649
6:152462361 SYNE1 T>C	6	152462361	152462361	T	C	SYNE1	c.25223A>G	NM_182961.3	NP_892006.3:p.(His8408Arg)	NC_000006.11:g.152462361T>C	(Likely) benign	1 lab	7fac8d47c1
12:124862915 NCOR2 C>T	12	124862915	124862915	C	T	NCOR2	c.2035G>A	NM_006312.5	NP_006303.4:p.(Ala679Thr)	NC_000012.11:g.124862915C>T	VUS	1 lab	7fafdec1cc
1:63836702 ALG6 A>G	1	63836702	63836702	A	G	ALG6	c.54A>G	NM_013339.4	NP_037471.2:p.(Arg18=)	NC_000001.10:g.63836702A>G	(Likely) benign	1 lab	7fb45cb16b
8:126073381 WASHC5 A>G	8	126073381	126073381	A	G	WASHC5	c.1464T>C	NM_014846.3	NP_055661.3:p.(Tyr488=)	NC_000008.10:g.126073381A>G	(Likely) benign	1 lab	7fb6f07581
X:152830557 ATP2B3 C>T	X	152830557	152830557	C	T	ATP2B3	c.3338C>T	NM_021949.3	NP_068768.2:p.(Thr1113Met)	NC_000023.10:g.152830557C>T	VUS	1 lab	7fb8a1c3f7
18:48593477 SMAD4 CAG>C	18	48593477	48593481	CAG	C	SMAD4	c.1231_1232del	NM_005359.6	NP_005350.1:p.(Ser411LeufsTer17)	NC_000018.9:g.48593480_48593481del	(Likely) pathogenic	1 lab	7fba4fe6cf
9:129453295 LMX1B C>T	9	129453295	129453295	C	T	LMX1B	c.507C>T	NM_001174146.1	NP_001167617.1:p.(Tyr169=)	NC_000009.11:g.129453295C>T	(Likely) benign	1 lab	7fba881a36
17:29677333 NF1 ATAGG>A	17	29677333	29677339	ATAGG	A	NF1	c.7457_7457+3del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29677336_29677339del	(Likely) pathogenic	1 lab	7fbb55dee2
7:100877703 CLDN15 C>T	7	100877703	100877703	C	T	CLDN15	c.238G>A	NM_001185080.1	NP_001172009.1:p.(Ala80Thr)	NC_000007.13:g.100877703C>T	VUS	1 lab	7fbb87b57b
14:53570581 DDHD1 A>T	14	53570581	53570581	A	T	DDHD1	c.839-7T>A	NM_001160148.1	NP_001153620.1:p.?	NC_000014.8:g.53570581A>T	(Likely) benign	1 lab	7fbca0546d
5:156753216 CYFIP2 G>T	5	156753216	156753216	G	T	CYFIP2	c.2020G>T	NM_001037333.3	NP_001032410.1:p.(Ala674Ser)	NC_000005.9:g.156753216G>T	VUS	1 lab	f9e25dcd5c
2:16085886 MYCN G>A	2	16085886	16085886	G	A	MYCN	c.1062G>A	NM_005378.5	NP_005369.2:p.(Ala354=)	NC_000002.11:g.16085886G>A	(Likely) benign	1 lab	7fbd46cebb
4:10099452 WDR1 T>C	4	10099452	10099452	T	C	WDR1	c.441A>G	NM_017491.4	NP_059830.1:p.(Lys147=)	NC_000004.11:g.10099452T>C	(Likely) benign	1 lab	7fbe6fc439
9:2718340 KCNV2 A>G	9	2718340	2718340	A	G	KCNV2	c.601A>G	NM_133497.3	NP_598004.1:p.(Ile201Val)	NC_000009.11:g.2718340A>G	VUS	1 lab	7fbfe6c8ed
4:55161325 PDGFRA G>A	4	55161325	55161325	G	A	PDGFRA	c.3195G>A	NM_001347830.1	NP_001334759.1:p.(Thr1065=)	NC_000004.11:g.55161325G>A	(Likely) benign	1 lab	7fc0cb37bc
19:10431331 RAVER1 C>T	19	10431331	10431331	C	T	RAVER1	c.1770G>A	NM_133452.3	NP_597709.3:p.(Ser590=)	NC_000019.9:g.10431331C>T	VUS	1 lab	7fc2363561
18:7042222 LAMA1 G>A	18	7042222	7042222	G	A	LAMA1	c.1183C>T	NM_005559.3	NP_005550.2:p.(Arg395Cys)	NC_000018.9:g.7042222G>A	VUS	1 lab	7fc2473cf3
14:95590765 DICER1 C>A	14	95590765	95590765	C	A	DICER1	c.1144G>T	NM_030621.4	NP_085124.2:p.(Glu382Ter)	NC_000014.8:g.95590765C>A	(Likely) pathogenic	1 lab	7fc25fb9e2
7:2252863 MAD1L1 T>A	7	2252863	2252863	T	A	MAD1L1	c.970A>T	NM_003550.2	NP_003541.2:p.(Met324Leu)	NC_000007.13:g.2252863T>A	(Likely) benign	1 lab	7fc5d9591a
5:37120365 CPLANE1 T>C	5	37120365	37120365	T	C	CPLANE1	c.9101A>G	NM_023073.3	NP_075561.3:p.(His3034Arg)	NC_000005.9:g.37120365T>C	(Likely) benign	1 lab	7fc627aabf
6:129794414 LAMA2 G>A	6	129794414	129794414	G	A	LAMA2	c.7356G>A	NM_000426.3	NP_000417.2:p.(Ser2452=)	NC_000006.11:g.129794414G>A	(Likely) benign	1 lab	7fc6477d2f
9:129456129 LMX1B G>A	9	129456129	129456129	G	A	LMX1B	c.919+5G>A	NM_001174146.1	NP_001167617.1:p.?	NC_000009.11:g.129456129G>A	VUS	1 lab	7fc70a420b
17:78938074 RPTOR G>A	17	78938074	78938074	G	A	RPTOR	c.3952G>A	NM_020761.2	NP_065812.1:p.(Val1318Met)	NC_000017.10:g.78938074G>A	VUS	1 lab	7fc7ef7eea
10:12111071 DHTKD1 C>T	10	12111071	12111071	C	T	DHTKD1	c.39C>T	NM_018706.6	NP_061176.3:p.(Leu13=)	NC_000010.10:g.12111071C>T	(Likely) benign	1 lab	7fc7f4f8fb
4:88536460 DSPP C>T	4	88536460	88536460	C	T	DSPP	c.2646C>T	NM_014208.3	NP_055023.2:p.(Ser882=)	NC_000004.11:g.88536460C>T	(Likely) benign	1 lab	7fc85cc3f8
6:31901480 C2 C>T	6	31901480	31901480	C	T	C2	c.31C>T	NM_001282457.1	NP_001269386.1:p.(Arg11Ter)	NC_000006.11:g.31901480C>T	VUS	1 lab	7fc90a58c0
13:103440219 POGLUT2 C>T	13	103440219	103440219	C	T	POGLUT2	c.691G>A	NM_001318732.1	NP_001305661.1:p.(Asp231Asn)	NC_000013.10:g.103440219C>T	VUS	1 lab	7fc97ebde7
X:70149842 SLC7A3 C>A	X	70149842	70149842	C	A	SLC7A3	c.6G>T	NM_032803.5	NP_116192.4:p.(Pro2=)	NC_000023.10:g.70149842C>A	(Likely) benign	1 lab	7fca55884f
20:62326113 RTEL1 A>G	20	62326113	62326113	A	G	RTEL1	c.3129A>G	NM_001283009.1	NP_001269938.1:p.(Pro1043=)	NC_000020.10:g.62326113A>G	(Likely) benign	1 lab	7fcae81351
X:62858074 ARHGEF9 C>T	X	62858074	62858074	C	T	ARHGEF9	c.1385G>A	NM_015185.2	NP_056000.1:p.(Arg462His)	NC_000023.10:g.62858074C>T	VUS	1 lab	7fcb703992
X:153580594 FLNA G>A	X	153580594	153580594	G	A	FLNA	c.6724C>T	NM_001110556.2	NP_001104026.1:p.(Arg2242Ter)	NC_000023.10:g.153580594G>A	(Likely) pathogenic	1 lab	7fcd806829
14:102508077 DYNC1H1 G>A	14	102508077	102508077	G	A	DYNC1H1	c.12102+6G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102508077G>A	(Likely) benign	1 lab	7fcd969ab0
16:2122848 TSC2 A>G	16	2122848	2122848	A	G	TSC2	c.2221-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122848A>G	(Likely) pathogenic	1 lab	7fcd9f7091
X:40540142 MED14 C>T	X	40540142	40540142	C	T	MED14	c.2478G>A	NM_004229.3	NP_004220.2:p.(Ser826=)	NC_000023.10:g.40540142C>T	(Likely) benign	1 lab	7fd00e4971
9:138650344 KCNT1 G>A	9	138650344	138650344	G	A	KCNT1	c.844G>A	NM_020822.2	NP_065873.2:p.(Val282Ile)	NC_000009.11:g.138650344G>A	VUS	1 lab	7fd1a892fa
8:13425379 C8orf48 T>C	8	13425379	13425379	T	C	C8orf48	c.879T>C	NM_001007090.3	NP_001007091.2:p.(Cys293=)	NC_000008.10:g.13425379T>C	(Likely) benign	1 lab	7fd3c5e438
X:69674122 DLG3 G>A	X	69674122	69674122	G	A	DLG3	c.1361G>A	NM_021120.3	NP_066943.2:p.(Arg454Gln)	NC_000023.10:g.69674122G>A	VUS	1 lab	7fd4570050
17:14095472 COX10 G>A	17	14095472	14095472	G	A	COX10	c.862G>A	NM_001303.3	NP_001294.2:p.(Gly288Arg)	NC_000017.10:g.14095472G>A	VUS	1 lab	7fd4a8ee98
19:17943505 JAK3 T>A	19	17943505	17943505	T	A	JAK3	c.2503A>T	NM_000215.3	NP_000206.2:p.(Ser835Cys)	NC_000019.9:g.17943505T>A	VUS	1 lab	7fd5e2d101
X:117162393 KLHL13 C>T	X	117162393	117162393	C	T	KLHL13	c.44G>A	NM_001168302.1	NP_001161774.1:p.(Arg15His)	NC_000023.10:g.117162393C>T	(Likely) benign	1 lab	7fd5f0543e
17:73227438 NUP85 C>T	17	73227438	73227438	C	T	NUP85	c.960C>T	NM_001303276.1	NP_001290205.1:p.(Ile320=)	NC_000017.10:g.73227438C>T	(Likely) benign	1 lab	7fd615b6ef
4:39217749 WDR19 C>A	4	39217749	39217749	C	A	WDR19	c.1168C>A	NM_025132.3	NP_079408.3:p.(Pro390Thr)	NC_000004.11:g.39217749C>A	VUS	1 lab	7fd799adfc
15:33878303 RYR3 G>A	15	33878303	33878303	G	A	RYR3	c.1774G>A	NM_001036.4	NP_001027.3:p.(Gly592Arg)	NC_000015.9:g.33878303G>A	VUS	1 lab	7fd81700eb
X:51151158 EZHIP C>T	X	51151158	51151158	C	T	EZHIP	c.1290C>T	NM_203407.3	NP_981952.1:p.(Ser430=)	NC_000023.10:g.51151158C>T	(Likely) benign	1 lab	7fd8d7cf39
2:232880279 DIS3L2 G>A	2	232880279	232880279	G	A	DIS3L2	c.108G>A	NM_152383.4	NP_689596.4:p.(Lys36=)	NC_000002.11:g.232880279G>A	(Likely) benign	1 lab	7fdd224df1
7:99753043 TRAPPC14 G>A	7	99753043	99753043	G	A	TRAPPC14	c.1431C>T	NM_018275.5	NP_060745.3:p.(Thr477=)	NC_000007.13:g.99753043G>A	(Likely) benign	1 lab	7fdda57610
14:21769278 RPGRIP1 G>A	14	21769278	21769278	G	A	RPGRIP1	c.372G>A	NM_020366.3	NP_065099.3:p.(Leu124=)	NC_000014.8:g.21769278G>A	(Likely) benign	1 lab	7fdde47188
5:176665280 NSD1 C>T	5	176665280	176665280	C	T	NSD1	c.3964C>T	NM_022455.4	NP_071900.2:p.(Arg1322Ter)	NC_000005.9:g.176665280C>T	(Likely) pathogenic	1 lab	7fde74f424
9:107594993 ABCA1 A>G	9	107594993	107594993	A	G	ABCA1	c.1371T>C	NM_005502.3	NP_005493.2:p.(Asp457=)	NC_000009.11:g.107594993A>G	(Likely) benign	1 lab	7fdeb16cfc
X:153770629 IKBKG A>G	X	153770629	153770629	A	G	IKBKG	c.151A>G	NM_001099856.4	NP_001093326.2:p.(Thr51Ala)	NC_000023.10:g.153770629A>G	(Likely) benign	1 lab	7fe07ff7b7
8:95863831 INTS8 G>C	8	95863831	95863831	G	C	INTS8	c.1558G>C	NM_017864.3	NP_060334.2:p.(Val520Leu)	NC_000008.10:g.95863831G>C	(Likely) benign	1 lab	7fe26ccea5
21:45750770 CFAP410 G>A	21	45750770	45750770	G	A	CFAP410	c.575C>T	NM_001271441.1	NP_001258370.1:p.(Pro192Leu)	NC_000021.8:g.45750770G>A	VUS	1 lab	7fe2f96d1e
20:57415645 GNAS C>A	20	57415645	57415645	C	A	GNAS	c.484C>A	NM_016592.3	NP_057676.1:p.(Arg162Ser)	NC_000020.10:g.57415645C>A	VUS	1 lab	7fe481a6bd
12:124827645 NCOR2 C>T	12	124827645	124827645	C	T	NCOR2	c.4842G>A	NM_006312.5	NP_006303.4:p.(Leu1614=)	NC_000012.11:g.124827645C>T	(Likely) benign	1 lab	7fe53eaa51
3:182804555 MCCC1 C>T	3	182804555	182804555	C	T	MCCC1	c.295G>A	NM_020166.4	NP_064551.3:p.(Gly99Ser)	NC_000003.11:g.182804555C>T	VUS	1 lab	7fe635264d
7:141490238 TAS2R5 G>A	7	141490238	141490238	G	A	TAS2R5	c.77G>A	NM_018980.2	NP_061853.1:p.(Ser26Asn)	NC_000007.13:g.141490238G>A	(Likely) benign	1 lab	7fe7965f83
2:219855700 CRYBA2 C>T	2	219855700	219855700	C	T	CRYBA2	c.320G>A	NM_057093.2	NP_476434.1:p.(Arg107His)	NC_000002.11:g.219855700C>T	(Likely) benign	1 lab	7fe79cc961
2:1520734 TPO C>T	2	1520734	1520734	C	T	TPO	c.2598C>T	NM_000547.5	NP_000538.3:p.(Thr866=)	NC_000002.11:g.1520734C>T	(Likely) benign	1 lab	7fe81e5558
16:21728262 OTOA T>C	16	21728262	21728262	T	C	OTOA	c.1523T>C	NM_144672.4	NP_653273.3:p.(Val508Ala)	NC_000016.9:g.21728262T>C	(Likely) benign	1 lab	7fe8e147cb
1:224586228 WDR26 CA>C	1	224586228	224586229	CA	C	WDR26	c.1932del	NM_001379403.1	NP_001366332.1:p.(Asn644LysfsTer2)	NC_000001.10:g.224586229del	(Likely) pathogenic	1 lab	7fe8f859db
15:90185493 KIF7 C>G	15	90185493	90185493	C	G	KIF7	c.2335G>C	NM_198525.2	NP_940927.2:p.(Glu779Gln)	NC_000015.9:g.90185493C>G	(Likely) benign	1 lab	7feb400155
16:2164377 PKD1 G>C	16	2164377	2164377	G	C	PKD1	c.2647C>G	NM_001009944.2	NP_001009944.2:p.(Pro883Ala)	NC_000016.9:g.2164377G>C	VUS	1 lab	7feb57e1aa
X:66765583 AR C>T	X	66765583	66765583	C	T	AR	c.595C>T	NM_000044.4	NP_000035.2:p.(Gln199Ter)	NC_000023.10:g.66765583C>T	(Likely) pathogenic	1 lab	7fecca8e12
14:90450954 TDP1 T>C	14	90450954	90450954	T	C	TDP1	c.979T>C	NM_018319.3	NP_060789.2:p.(Leu327=)	NC_000014.8:g.90450954T>C	(Likely) benign	1 lab	7fee6402c0
16:3707247 DNASE1 G>A	16	3707247	3707247	G	A	DNASE1	c.609G>A	NM_005223.4	NP_005214.2:p.(Trp203Ter)	NC_000016.9:g.3707247G>A	(Likely) pathogenic	1 lab	f9e72d1b11
19:44002003 PHLDB3 C>T	19	44002003	44002003	C	T	PHLDB3	c.560G>A	NM_198850.3	NP_942147.3:p.(Arg187Gln)	NC_000019.9:g.44002003C>T	VUS	1 lab	7ff0a93850
2:241727527 KIF1A C>T	2	241727527	241727527	C	T	KIF1A	c.304G>A	NM_001244008.1	NP_001230937.1:p.(Gly102Ser)	NC_000002.11:g.241727527C>T	(Likely) pathogenic	1 lab	7ff12a6674
17:10542724 MYH3 T>G	17	10542724	10542724	T	G	MYH3	c.2993A>C	NM_002470.3	NP_002461.2:p.(Lys998Thr)	NC_000017.10:g.10542724T>G	VUS	1 lab	7ff2d4d0e9
6:7572073 DSP A>G	6	7572073	7572073	A	G	DSP	c.1904-2A>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7572073A>G	(Likely) pathogenic	1 lab	848e4865e1
7:131130540 MKLN1 G>A	7	131130540	131130540	G	A	MKLN1	c.1334G>A	NM_001145354.1	NP_001138826.1:p.(Arg445His)	NC_000007.13:g.131130540G>A	VUS	1 lab	7ff2fcd5fb
3:134277173 CEP63 A>G	3	134277173	134277173	A	G	CEP63	c.1657A>G	NM_025180.4	NP_079456.2:p.(Lys553Glu)	NC_000003.11:g.134277173A>G	VUS	1 lab	7ff5aba640
7:151849883 KMT2C G>A	7	151849883	151849883	G	A	KMT2C	c.12433C>T	NM_170606.2	NP_733751.2:p.(Arg4145Cys)	NC_000007.13:g.151849883G>A	(Likely) benign	1 lab	7ff848a017
7:5781154 RNF216 G>C	7	5781154	5781154	G	C	RNF216	c.494C>G	NM_207111.3	NP_996994.1:p.(Ala165Gly)	NC_000007.13:g.5781154G>C	(Likely) benign	1 lab	7ffa0a61a8
6:65300236 EYS G>T	6	65300236	65300236	G	T	EYS	c.5524C>A	NM_001292009.1	NP_001278938.1:p.(Leu1842Ile)	NC_000006.11:g.65300236G>T	VUS	1 lab	7ffba1500c
20:48130898 PTGIS A>G	20	48130898	48130898	A	G	PTGIS	c.890T>C	NM_000961.4	NP_000952.1:p.(Leu297Pro)	NC_000020.10:g.48130898A>G	VUS	1 lab	f9ea5f61c5
22:17690296 ADA2 T>C	22	17690296	17690296	T	C	ADA2	c.272A>G	NM_001282226.1	NP_001269155.1:p.(His91Arg)	NC_000022.10:g.17690296T>C	VUS	1 lab	8002201ca0
20:3209536 SLC4A11 G>A	20	3209536	3209536	G	A	SLC4A11	c.2269C>T	NM_001174090.1	NP_001167561.1:p.(Arg757Ter)	NC_000020.10:g.3209536G>A	(Likely) pathogenic	1 lab	8002b141b5
14:105236728 AKT1 G>A	14	105236728	105236728	G	A	AKT1	c.1393C>T	NM_001014432.1	NP_001014432.1:p.(Arg465Cys)	NC_000014.8:g.105236728G>A	VUS	1 lab	8002f024a7
17:29528467 NF1 T>G	17	29528467	29528467	T	G	NF1	c.1224T>G	NM_000267.3	NP_000258.1:p.(Tyr408Ter)	NC_000017.10:g.29528467T>G	(Likely) pathogenic	1 lab	80032a2cd1
5:176694580 NSD1 T>C	5	176694580	176694580	T	C	NSD1	c.5164T>C	NM_022455.4	NP_071900.2:p.(Cys1722Arg)	NC_000005.9:g.176694580T>C	(Likely) pathogenic	1 lab	800547da6d
15:62223426 VPS13C G>C	15	62223426	62223426	G	C	VPS13C	c.5901C>G	NM_001018088.2	NP_001018098.1:p.(Phe1967Leu)	NC_000015.9:g.62223426G>C	(Likely) benign	1 lab	8005524733
4:55138608 PDGFRA G>A	4	55138608	55138608	G	A	PDGFRA	c.1285G>A	NM_006206.4	NP_006197.1:p.(Gly429Arg)	NC_000004.11:g.55138608G>A	(Likely) benign	1 lab	80058a3e24
9:75406900 TMC1 G>A	9	75406900	75406900	G	A	TMC1	c.1323G>A	NM_138691.2	NP_619636.2:p.(Trp441Ter)	NC_000009.11:g.75406900G>A	(Likely) pathogenic	1 lab	80061934d9
14:23282524 SLC7A7 C>T	14	23282524	23282524	C	T	SLC7A7	c.84G>A	NM_001126106.2	NP_001119578.1:p.(Pro28=)	NC_000014.8:g.23282524C>T	(Likely) benign	1 lab	8008c6d307
6:5369005 FARS2 C>T	6	5369005	5369005	C	T	FARS2	c.202C>T	NM_001318872.1	NP_001305801.1:p.(Arg68Trp)	NC_000006.11:g.5369005C>T	VUS	1 lab	8009976d6b
17:44087741 MAPT T>C	17	44087741	44087741	T	C	MAPT	c.888T>C	NM_005910.5	NP_005901.2:p.(Asn296=)	NC_000017.10:g.44087741T>C	(Likely) pathogenic	1 lab	800ce46cc9
2:27851941 GPN1 G>A	2	27851941	27851941	G	A	GPN1	c.16G>A	NM_007266.4	NP_009197.3:p.(Ala6Thr)	NC_000002.11:g.27851941G>A	(Likely) benign	1 lab	8010b5e61e
12:53185088 KRT3 C>T	12	53185088	53185088	C	T	KRT3	c.1437G>A	NM_057088.2	NP_476429.2:p.(Ala479=)	NC_000012.11:g.53185088C>T	(Likely) benign	1 lab	8010c8088a
3:38519942 ACVR2B G>A	3	38519942	38519942	G	A	ACVR2B	c.599G>A	NM_001106.3	NP_001097.2:p.(Arg200His)	NC_000003.11:g.38519942G>A	VUS	1 lab	8012450fff
16:2098767 TSC2 C>T	16	2098767	2098767	C	T	TSC2	c.138+13C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2098767C>T	(Likely) benign	1 lab	8012619974
4:6303143 WFS1 T>C	4	6303143	6303143	T	C	WFS1	c.1621T>C	NM_006005.3	NP_005996.2:p.(Cys541Arg)	NC_000004.11:g.6303143T>C	VUS	1 lab	8012f912b0
16:27786323 KATNIP G>T	16	27786323	27786323	G	T	KATNIP	c.4367G>T	NM_015202.3	NP_056017.3:p.(Arg1456Leu)	NC_000016.9:g.27786323G>T	VUS	1 lab	80150fde2a
X:114541104 LUZP4 A>G	X	114541104	114541104	A	G	LUZP4	c.677A>G	NM_016383.4	NP_057467.1:p.(His226Arg)	NC_000023.10:g.114541104A>G	(Likely) benign	1 lab	8016064895
22:38120524 TRIOBP G>A	22	38120524	38120524	G	A	TRIOBP	c.1961G>A	NM_001039141.2	NP_001034230.1:p.(Arg654Gln)	NC_000022.10:g.38120524G>A	(Likely) benign	1 lab	8017c4dcd6
5:140562210 PCDHB16 G>A	5	140562210	140562210	G	A	PCDHB16	c.76G>A	NM_020957.3	NP_066008.2:p.(Ala26Thr)	NC_000005.9:g.140562210G>A	VUS	1 lab	8019a0637b
22:36712598 MYH9 G>A	22	36712598	36712598	G	A	MYH9	c.1344C>T	NM_002473.5	NP_002464.1:p.(Ile448=)	NC_000022.10:g.36712598G>A	(Likely) benign	1 lab	801abb2439
20:47641909 ARFGEF2 C>T	20	47641909	47641909	C	T	ARFGEF2	c.4815C>T	NM_006420.2	NP_006411.2:p.(Tyr1605=)	NC_000020.10:g.47641909C>T	(Likely) benign	1 lab	801b3d160c
2:238283410 COL6A3 G>A	2	238283410	238283410	G	A	COL6A3	c.3324C>T	NM_004369.3	NP_004360.2:p.(Thr1108=)	NC_000002.11:g.238283410G>A	(Likely) benign	1 lab	801c2fef44
2:231048312 SP110 A>G	2	231048312	231048312	A	G	SP110	c.1324T>C	NM_080424.2	NP_536349.2:p.(Phe442Leu)	NC_000002.11:g.231048312A>G	(Likely) benign	1 lab	801e046e92
3:147131308 ZIC1 C>G	3	147131308	147131308	C	G	ZIC1	c.1314C>G	NM_003412.3	NP_003403.2:p.(Leu438=)	NC_000003.11:g.147131308C>G	(Likely) benign	1 lab	801e6145c8
11:103349966 DYNC2H1 C>A	11	103349966	103349966	C	A	DYNC2H1	c.12930C>A	NM_001080463.1	NP_001073932.1:p.(Phe4310Leu)	NC_000011.9:g.103349966C>A	VUS	1 lab	801e6473f4
5:149786783 CD74 C>T	5	149786783	149786783	C	T	CD74	c.230G>A	NM_001025159.2	NP_001020330.1:p.(Arg77Gln)	NC_000005.9:g.149786783C>T	(Likely) benign	1 lab	801e6575f7
16:88902276 GALNS C>T	16	88902276	88902276	C	T	GALNS	c.634-19G>A	NM_000512.4	NP_000503.1:p.?	NC_000016.9:g.88902276C>T	(Likely) benign	1 lab	801fc86275
2:233715061 GIGYF2 G>A	2	233715061	233715061	G	A	GIGYF2	c.3837G>A	NM_001103147.1	NP_001096617.1:p.(Val1279=)	NC_000002.11:g.233715061G>A	(Likely) benign	1 lab	80233ba985
17:79863006 PCYT2 G>A	17	79863006	79863006	G	A	PCYT2	c.994C>T	NM_002861.5	NP_002852.1:p.(Arg332Cys)	NC_000017.10:g.79863006G>A	VUS	1 lab	f9eaa42d10
10:104357022 SUFU C>T	10	104357022	104357022	C	T	SUFU	c.882C>T	NM_016169.3	NP_057253.2:p.(Gly294=)	NC_000010.10:g.104357022C>T	(Likely) benign	1 lab	8024153ae5
X:22266052 PHEX C>A	X	22266052	22266052	C	A	PHEX	c.2232C>A	NM_000444.5	NP_000435.3:p.(Asp744Glu)	NC_000023.10:g.22266052C>A	(Likely) benign	1 lab	8024d41b99
1:109482706 CLCC1 G>C	1	109482706	109482706	G	C	CLCC1	c.855C>G	NM_001048210.2	NP_001041675.1:p.(Leu285=)	NC_000001.10:g.109482706G>C	(Likely) benign	1 lab	802712b89b
19:1220705 STK11 TG>T	19	1220705	1220709	TG	T	STK11	c.727del	NM_000455.5	NP_000446.1:p.(Val243SerfsTer44)	NC_000019.9:g.1220709del	(Likely) pathogenic	1 lab	8028e3ea19
1:27706545 CD164L2 T>C	1	27706545	27706545	T	C	CD164L2	c.514A>G	NM_207397.4	NP_997280.2:p.(Thr172Ala)	NC_000001.10:g.27706545T>C	VUS	1 lab	802900c709
4:6302953 WFS1 T>C	4	6302953	6302953	T	C	WFS1	c.1431T>C	NM_006005.3	NP_005996.2:p.(Asn477=)	NC_000004.11:g.6302953T>C	(Likely) benign	1 lab	802977f0bd
10:115343904 HABP2 T>C	10	115343904	115343904	T	C	HABP2	c.1238-3T>C	NM_004132.4	NP_004123.1:p.?	NC_000010.10:g.115343904T>C	(Likely) benign	1 lab	802e6ce8fc
1:152281671 FLG GT>G	1	152281671	152281672	GT	G	FLG	c.5690del	NM_002016.2	NP_002007.1:p.(His1897ProfsTer198)	NC_000001.10:g.152281672del	VUS	1 lab	802f97d190
1:237608733 RYR2 T>C	1	237608733	237608733	T	C	RYR2	c.1203T>C	NM_001035.2	NP_001026.2:p.(Asp401=)	NC_000001.10:g.237608733T>C	(Likely) benign	1 lab	80306f3bd1
19:45206676 CEACAM16 G>T	19	45206676	45206676	G	T	CEACAM16	c.95G>T	NM_001039213.4	NP_001034302.2:p.(Ser32Ile)	NC_000019.9:g.45206676G>T	(Likely) benign	1 lab	803578a6be
13:103402638 LRTM3 A>G	13	103402638	103402638	A	G	LRTM3	c.409T>C	NM_001146197.2	NP_001139669.1:p.(Trp137Arg)	NC_000013.10:g.103402638A>G	(Likely) benign	1 lab	8035871512
10:101089837 CNNM1 G>A	10	101089837	101089837	G	A	CNNM1	c.693G>A	NM_001345887.1	NP_001332816.1:p.(Leu231=)	NC_000010.10:g.101089837G>A	(Likely) benign	1 lab	8036427285
20:39832136 ZHX3 T>C	20	39832136	39832136	T	C	ZHX3	c.1421A>G	NM_015035.3	NP_055850.1:p.(Asn474Ser)	NC_000020.10:g.39832136T>C	(Likely) benign	1 lab	8037d7c6e9
10:16982057 CUBN G>A	10	16982057	16982057	G	A	CUBN	c.5522C>T	NM_001081.3	NP_001072.2:p.(Thr1841Met)	NC_000010.10:g.16982057G>A	(Likely) benign	1 lab	803aa30df2
19:10224669 PPAN-P2RY11 G>A	19	10224669	10224669	G	A	PPAN-P2RY11	c.1640G>A	NM_001040664.2	NP_001035754.1:p.(Arg547His)	NC_000019.9:g.10224669G>A	VUS	1 lab	803b8ce2b4
22:51019929 CHKB A>C	22	51019929	51019929	A	C	CHKB	c.501T>G	NM_005198.5	NP_005189.2:p.(Ile167Met)	NC_000022.10:g.51019929A>C	(Likely) benign	1 lab	f9f11374e6
11:17569012 OTOG C>T	11	17569012	17569012	C	T	OTOG	c.93C>T	NM_001277269.1	NP_001264198.1:p.(Leu31=)	NC_000011.9:g.17569012C>T	(Likely) benign	1 lab	803cdfd5f3
17:79804497 P4HB G>A	17	79804497	79804497	G	A	P4HB	c.864C>T	NM_000918.3	NP_000909.2:p.(Phe288=)	NC_000017.10:g.79804497G>A	(Likely) benign	1 lab	803d8ca2aa
12:40815077 MUC19 C>T	12	40815077	40815077	C	T	MUC19	c.1731C>T	NM_173600.2	NP_775871.2:p.(Ser577=)	NC_000012.11:g.40815077C>T	(Likely) benign	1 lab	803dedd0c5
9:139748099 MAMDC4 T>C	9	139748099	139748099	T	C	MAMDC4	c.431T>C	NM_206920.3	NP_996803.2:p.(Leu144Pro)	NC_000009.11:g.139748099T>C	VUS	1 lab	803e17cfc0
10:123279549 FGFR2 C>G	10	123279549	123279549	C	G	FGFR2	c.883G>C	NM_000141.4	NP_000132.3:p.(Glu295Gln)	NC_000010.10:g.123279549C>G	(Likely) benign	1 lab	803f972fcd
21:46899857 COL18A1 C>T	21	46899857	46899857	C	T	COL18A1	c.1290C>T	NM_130445.2	NP_569712.2:p.(Asp430=)	NC_000021.8:g.46899857C>T	(Likely) benign	1 lab	8040454c30
5:10261748 CCT5 G>A	5	10261748	10261748	G	A	CCT5	c.905G>A	NM_001306154.1	NP_001293083.1:p.(Gly302Asp)	NC_000005.9:g.10261748G>A	VUS	1 lab	80404e77f5
X:108906546 ACSL4 A>G	X	108906546	108906546	A	G	ACSL4	c.1599T>C	NM_022977.2	NP_075266.1:p.(Asn533=)	NC_000023.10:g.108906546A>G	(Likely) benign	1 lab	80418d3d1c
6:31948472 WHR1 C>T	6	31948472	31948472	C	T	WHR1	c.955C>T	NM_032454.1	NP_115830.1:p.(Arg319Trp)	NC_000006.11:g.31948472C>T	VUS	1 lab	8043c123c0
15:86813160 AGBL1 G>A	15	86813160	86813160	G	A	AGBL1	c.1849G>A	NM_152336.3	NP_689549.3:p.(Asp617Asn)	NC_000015.9:g.86813160G>A	(Likely) benign	1 lab	804510edce
6:13321279 TBC1D7 C>A	6	13321279	13321279	C	A	TBC1D7	c.161G>T	NM_001318806.1	NP_001305735.1:p.(Arg54Leu)	NC_000006.11:g.13321279C>A	VUS	1 lab	804572caf8
8:41518992 ANK1 T>A	8	41518992	41518992	T	A	ANK1	c.5635A>T	NM_000037.3	NP_000028.3:p.(Lys1879Ter)	NC_000008.10:g.41518992T>A	VUS	1 lab	8046682736
7:117174424 CFTR G>A	7	117174424	117174424	G	A	CFTR	c.579+5G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117174424G>A	(Likely) pathogenic	1 lab	80467bcec6
12:88584312 TMTC3 C>A	12	88584312	88584312	C	A	TMTC3	c.1619C>A	NM_181783.3	NP_861448.2:p.(Ala540Glu)	NC_000012.11:g.88584312C>A	(Likely) benign	1 lab	804692afd6
X:153589697 FLNA C>CA	X	153589697	153589698	C	CA	FLNA	c.3185dup	NM_001110556.2	NP_001104026.1:p.(Ala1063GlyfsTer6)	NC_000023.10:g.153589698dup	(Likely) pathogenic	1 lab	8047cd016f
22:38120740 TRIOBP G>A	22	38120740	38120740	G	A	TRIOBP	c.2177G>A	NM_001039141.2	NP_001034230.1:p.(Arg726Gln)	NC_000022.10:g.38120740G>A	(Likely) benign	1 lab	8048def16b
X:100092390 CSTF2 C>T	X	100092390	100092390	C	T	CSTF2	c.1623C>T	NM_001306206.1	NP_001293135.1:p.(Gly541=)	NC_000023.10:g.100092390C>T	(Likely) benign	1 lab	804ac6741e
5:140056992 HARS1 T>A	5	140056992	140056992	T	A	HARS1	c.683A>T	NM_001258041.2	NP_001244970.1:p.(Glu228Val)	NC_000005.9:g.140056992T>A	VUS	1 lab	804bb1a10d
3:78656019 ROBO1 A>G	3	78656019	78656019	A	G	ROBO1	c.4473T>C	NM_133631.3	NP_598334.2:p.(Asp1491=)	NC_000003.11:g.78656019A>G	(Likely) benign	1 lab	804f17a5e4
5:90049501 ADGRV1 A>G	5	90049501	90049501	A	G	ADGRV1	c.11232A>G	NM_032119.4	NP_115495.3:p.(Thr3744=)	NC_000005.9:g.90049501A>G	(Likely) benign	1 lab	80502e108f
18:42530151 SETBP1 A>G	18	42530151	42530151	A	G	SETBP1	c.846A>G	NM_015559.3	NP_056374.2:p.(Lys282=)	NC_000018.9:g.42530151A>G	VUS	1 lab	8052b65c92
6:29054968 OR2B3 T>A	6	29054968	29054968	T	A	OR2B3	c.58A>T	NM_001005226.2	NP_001005226.1:p.(Arg20Trp)	NC_000006.11:g.29054968T>A	(Likely) benign	1 lab	8053f38f04
1:158812160 MNDA C>T	1	158812160	158812160	C	T	MNDA	c.217C>T	NM_002432.3	NP_002423.1:p.(Pro73Ser)	NC_000001.10:g.158812160C>T	(Likely) benign	1 lab	8054ff8026
16:2136246 TSC2 C>T	16	2136246	2136246	C	T	TSC2	c.4715C>T	NM_000548.5	NP_000539.2:p.(Thr1572Met)	NC_000016.9:g.2136246C>T	VUS	1 lab	f9fb0e3954
17:44055752 MAPT G>A	17	44055752	44055752	G	A	MAPT	c.319G>A	NM_001123066.3	NP_001116538.2:p.(Gly107Ser)	NC_000017.10:g.44055752G>A	VUS	1 lab	8056ef22bc
10:79396193 KCNMA1 G>A	10	79396193	79396193	G	A	KCNMA1	c.459C>T	NM_001271522.1	NP_001258451.1:p.(Arg153=)	NC_000010.10:g.79396193G>A	(Likely) benign	1 lab	8058cf8f85
21:47831729 PCNT G>A	21	47831729	47831729	G	A	PCNT	c.5742G>A	NM_006031.5	NP_006022.3:p.(Ala1914=)	NC_000021.8:g.47831729G>A	(Likely) benign	1 lab	805d287f04
19:7534862 ARHGEF18 G>A	19	7534862	7534862	G	A	ARHGEF18	c.3134G>A	NM_001130955.2	NP_001124427.2:p.(Arg1045His)	NC_000019.9:g.7534862G>A	VUS	1 lab	806028c22f
1:216424316 USH2A G>C	1	216424316	216424316	G	C	USH2A	c.2096C>G	NM_206933.2	NP_996816.2:p.(Ser699Cys)	NC_000001.10:g.216424316G>C	VUS	1 lab	806096df6a
X:16875724 RBBP7 T>C	X	16875724	16875724	T	C	RBBP7	c.590A>G	NM_002893.3	NP_002884.1:p.(Asp197Gly)	NC_000023.10:g.16875724T>C	VUS	1 lab	806205aee0
2:88857314 EIF2AK3 T>C	2	88857314	88857314	T	C	EIF2AK3	c.3291A>G	NM_004836.6	NP_004827.4:p.(Ser1097=)	NC_000002.11:g.88857314T>C	(Likely) benign	1 lab	806219f260
X:100242526 ARL13A G>A	X	100242526	100242526	G	A	ARL13A	c.634G>A	NM_001162491.1	NP_001155963.1:p.(Glu212Lys)	NC_000023.10:g.100242526G>A	(Likely) benign	1 lab	8062adaad0
11:66468563 SPTBN2 C>T	11	66468563	66468563	C	T	SPTBN2	c.3007G>A	NM_006946.3	NP_008877.1:p.(Gly1003Ser)	NC_000011.9:g.66468563C>T	VUS	1 lab	8064090680
20:47990792 KCNB1 A>G	20	47990792	47990792	A	G	KCNB1	c.1305T>C	NM_004975.3	NP_004966.1:p.(Ala435=)	NC_000020.10:g.47990792A>G	(Likely) benign	1 lab	8065fbee3c
20:50234089 ATP9A G>A	20	50234089	50234089	G	A	ATP9A	c.2355C>T	NM_006045.2	NP_006036.1:p.(Asp785=)	NC_000020.10:g.50234089G>A	(Likely) benign	1 lab	806649964a
15:49037095 CEP152 T>C	15	49037095	49037095	T	C	CEP152	c.3729A>G	NM_001194998.1	NP_001181927.1:p.(Pro1243=)	NC_000015.9:g.49037095T>C	(Likely) benign	1 lab	8067e79263
15:50862357 TRPM7 A>G	15	50862357	50862357	A	G	TRPM7	c.5309-5T>C	NM_017672.5	NP_060142.3:p.?	NC_000015.9:g.50862357A>G	(Likely) benign	1 lab	8069b1fa32
12:6956001 GNB3 C>T	12	6956001	6956001	C	T	GNB3	c.962C>T	NM_002075.3	NP_002066.1:p.(Thr321Ile)	NC_000012.11:g.6956001C>T	VUS	1 lab	806b066ecf
10:100179863 HPS1 G>A	10	100179863	100179863	G	A	HPS1	c.824C>T	NM_001322487.1	NP_001309416.1:p.(Thr275Met)	NC_000010.10:g.100179863G>A	VUS	1 lab	806b430377
17:29585450 NF1 C>CGA	17	29585450	29585452	C	CGA	NF1	c.4200_4201insAG	NM_000267.3	NP_000258.1:p.(Tyr1401SerfsTer7)	NC_000017.10:g.29585451_29585452insAG	(Likely) pathogenic	1 lab	806c5b71e4
5:90151589 ADGRV1 G>A	5	90151589	90151589	G	A	ADGRV1	c.17626G>A	NM_032119.4	NP_115495.3:p.(Val5876Ile)	NC_000005.9:g.90151589G>A	(Likely) benign	1 lab	806cbaf195
X:100505912 DRP2 G>A	X	100505912	100505912	G	A	DRP2	c.1705G>A	NM_001939.2	NP_001930.2:p.(Gly569Arg)	NC_000023.10:g.100505912G>A	VUS	1 lab	806ded38d4
18:43459122 EPG5 T>A	18	43459122	43459122	T	A	EPG5	c.5725A>T	NM_020964.3	NP_066015.2:p.(Met1909Leu)	NC_000018.9:g.43459122T>A	(Likely) benign	1 lab	806e52af18
X:41003816 USP9X C>T	X	41003816	41003816	C	T	USP9X	c.1356C>T	NM_001039591.3	NP_001034680.2:p.(Leu452=)	NC_000023.10:g.41003816C>T	(Likely) benign	1 lab	806f776216
X:48649666 GATA1 G>A	X	48649666	48649666	G	A	GATA1	c.150G>A	NM_002049.3	NP_002040.1:p.(Pro50=)	NC_000023.10:g.48649666G>A	(Likely) benign	1 lab	806f7cac99
20:33588097 MYH7B C>T	20	33588097	33588097	C	T	MYH7B	c.4909C>T	NM_020884.4	NP_065935.3:p.(Arg1637Cys)	NC_000020.10:g.33588097C>T	VUS	1 lab	807024853d
6:152552537 SYNE1 C>T	6	152552537	152552537	C	T	SYNE1	c.21028G>A	NM_182961.3	NP_892006.3:p.(Val7010Ile)	NC_000006.11:g.152552537C>T	(Likely) benign	1 lab	807198ef0b
15:30664460 CHRFAM7A C>T	15	30664460	30664460	C	T	CHRFAM7A	c.413G>A	NM_139320.1	NP_647536.1:p.(Arg138His)	NC_000015.9:g.30664460C>T	VUS	1 lab	80720fd7ed
11:67765852 UNC93B1 G>A	11	67765852	67765852	G	A	UNC93B1	c.758C>T	NM_030930.2	NP_112192.2:p.(Thr253Met)	NC_000011.9:g.67765852G>A	VUS	1 lab	80728a89ab
6:7565681 DSP C>T	6	7565681	7565681	C	T	DSP	c.867C>T	NM_004415.2	NP_004406.2:p.(Cys289=)	NC_000006.11:g.7565681C>T	VUS	1 lab	807359203e
X:75004166 MAGEE2 C>G	X	75004166	75004166	C	G	MAGEE2	c.721G>C	NM_138703.4	NP_619648.1:p.(Val241Leu)	NC_000023.10:g.75004166C>G	VUS	1 lab	80746904c0
19:42221545 CEACAM5 C>T	19	42221545	42221545	C	T	CEACAM5	c.1130C>T	NM_004363.5	NP_004354.3:p.(Thr377Ile)	NC_000019.9:g.42221545C>T	VUS	1 lab	80749d7d9f
15:62283963 VPS13C A>T	15	62283963	62283963	A	T	VPS13C	c.1392T>A	NM_001018088.2	NP_001018098.1:p.(Ala464=)	NC_000015.9:g.62283963A>T	(Likely) benign	1 lab	8076f3ba59
9:98209513 PTCH1 C>T	9	98209513	98209513	C	T	PTCH1	c.3827G>A	NM_001083602.1	NP_001077071.1:p.(Arg1276His)	NC_000009.11:g.98209513C>T	(Likely) benign	1 lab	807791bfa9
3:167405098 PDCD10 C>CT	3	167405098	167405099	C	CT	PDCD10	c.480_481insA	NM_007217.3	NP_009148.2:p.(Glu161ArgfsTer16)	NC_000003.11:g.167405098_167405099insT	(Likely) pathogenic	1 lab	8077f53769
18:77475320 CTDP1 G>A	18	77475320	77475320	G	A	CTDP1	c.1860G>A	NM_004715.4	NP_004706.3:p.(Pro620=)	NC_000018.9:g.77475320G>A	(Likely) benign	1 lab	80783cc6e5
X:140984824 MAGEC3 G>A	X	140984824	140984824	G	A	MAGEC3	c.1280G>A	NM_138702.1	NP_619647.1:p.(Arg427Gln)	NC_000023.10:g.140984824G>A	(Likely) benign	1 lab	80795a4dac
6:72993824 RIMS1 AGGCTT>A	6	72993824	72993831	AGGCTT	A	RIMS1	c.3554+6_3554+10del	NM_014989.7	NP_055804.2:p.?	NC_000006.11:g.72993827_72993831del	(Likely) benign	1 lab	807aaaba37
12:80764425 OTOGL T>A	12	80764425	80764425	T	A	OTOGL	c.6664T>A	NM_173591.3	NP_775862.3:p.(Tyr2222Asn)	NC_000012.11:g.80764425T>A	VUS	1 lab	807aee05d2
11:110150486 RDX T>TA	11	110150486	110150498	T	TA	RDX	c.-64-6dup	NM_002906.3	NP_002897.1:p.?	NC_000011.9:g.110150498dup	(Likely) benign	1 lab	807af3a27f
13:52534440 ATP7B C>T	13	52534440	52534440	C	T	ATP7B	c.1965G>A	NM_000053.3	NP_000044.2:p.(Leu655=)	NC_000013.10:g.52534440C>T	(Likely) benign	1 lab	807b470c06
9:71833218 TJP2 T>C	9	71833218	71833218	T	C	TJP2	c.285T>C	NM_004817.4	NP_004808.2:p.(Asp95=)	NC_000009.11:g.71833218T>C	(Likely) benign	1 lab	807c5cf074
2:179435898 TTN G>A	2	179435898	179435898	G	A	TTN	c.74961C>T	NM_001267550.1	NP_001254479.1:p.(Asn24987=)	NC_000002.11:g.179435898G>A	(Likely) benign	1 lab	807d7457c1
19:50881820 NR1H2 A>AAAC	19	50881820	50881824	A	AAAC	NR1H2	c.516_518dup	NM_007121.6	NP_009052.4:p.(Gln175dup)	NC_000019.9:g.50881822_50881824dup	(Likely) benign	1 lab	807dc24b6d
X:153220512 HCFC1 T>G	X	153220512	153220512	T	G	HCFC1	c.3338A>C	NM_005334.2	NP_005325.2:p.(Glu1113Ala)	NC_000023.10:g.153220512T>G	VUS	1 lab	807e46cccf
8:42128968 IKBKB C>A	8	42128968	42128968	C	A	IKBKB	c.80C>A	NM_001190720.2	NP_001177649.1:p.(Ala27Asp)	NC_000008.10:g.42128968C>A	VUS	1 lab	807f162a5c
21:47848448 PCNT C>T	21	47848448	47848448	C	T	PCNT	c.7634C>T	NM_006031.5	NP_006022.3:p.(Ala2545Val)	NC_000021.8:g.47848448C>T	VUS	1 lab	807f2e505d
12:111651993 CUX2 T>TA	12	111651993	111651994	T	TA	CUX2	c.64-10dup	NM_015267.3	NP_056082.2:p.?	NC_000012.11:g.111651994dup	(Likely) benign	1 lab	807f380967
17:29653002 NF1 C>CT	17	29653002	29653003	C	CT	NF1	c.4938dup	NM_000267.3	NP_000258.1:p.(Gly1647TrpfsTer14)	NC_000017.10:g.29653003dup	(Likely) pathogenic	1 lab	80801c80c4
15:40710432 IVD C>G	15	40710432	40710432	C	G	IVD	c.1194C>G	NM_001354597.2	NP_001341526.1:p.(Ile398Met)	NC_000015.9:g.40710432C>G	VUS	1 lab	8081196f9d
1:103440416 COL11A1 TGGACCCTGAGGTCCTTGA>T	1	103440416	103440442	TGGACCCTGAGGTCCTTGA	T	COL11A1	c.2760_2777del	NM_001854.4	NP_001845.3:p.(Gln921_Pro926del)	NC_000001.10:g.103440425_103440442del	(Likely) pathogenic	1 lab	8081da46b7
15:89860051 POLG C>T	15	89860051	89860051	C	T	POLG	c.3651G>A	NM_002693.2	NP_002684.1:p.(Ala1217=)	NC_000015.9:g.89860051C>T	(Likely) benign	1 lab	808250aa78
11:76831868 CAPN5 G>A	11	76831868	76831868	G	A	CAPN5	c.1400G>A	NM_004055.5	NP_004046.2:p.(Arg467His)	NC_000011.9:g.76831868G>A	VUS	1 lab	f9fe705c11
X:49032221 PRICKLE3 G>C	X	49032221	49032221	G	C	PRICKLE3	c.1649C>G	NM_006150.4	NP_006141.2:p.(Ser550Cys)	NC_000023.10:g.49032221G>C	(Likely) benign	1 lab	80854a3d88
5:176639169 NSD1 A>C	5	176639169	176639169	A	C	NSD1	c.3769A>C	NM_022455.4	NP_071900.2:p.(Thr1257Pro)	NC_000005.9:g.176639169A>C	VUS	1 lab	80854f6062
10:116608473 FHIP2A T>C	10	116608473	116608473	T	C	FHIP2A	c.1780T>C	NM_020940.4	NP_065991.3:p.(Tyr594His)	NC_000010.10:g.116608473T>C	VUS	1 lab	808562227b
2:178592864 PDE11A C>T	2	178592864	178592864	C	T	PDE11A	c.1825G>A	NM_016953.4	NP_058649.3:p.(Asp609Asn)	NC_000002.11:g.178592864C>T	VUS	1 lab	fa009d8c6b
5:112155039 APC C>G	5	112155039	112155039	C	G	APC				NC_000005.9:g.112155039C>G	VUS	1 lab	8088e4a3ca
2:242432819 FARP2 G>A	2	242432819	242432819	G	A	FARP2	c.3007G>A	NM_014808.4	NP_055623.1:p.(Val1003Ile)	NC_000002.11:g.242432819G>A	VUS	1 lab	8089c2fb1c
15:65116047 PIF1 G>A	15	65116047	65116047	G	A	PIF1	c.488C>T	NM_001286496.2	NP_001273425.1:p.(Ala163Val)	NC_000015.9:g.65116047G>A	(Likely) benign	1 lab	808a5584e2
17:29483145 NF1 G>A	17	29483145	29483145	G	A	NF1	c.204+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29483145G>A	(Likely) pathogenic	1 lab	808c1aaa83
17:56284445 MKS1 C>T	17	56284445	56284445	C	T	MKS1	c.1407+1G>A	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56284445C>T	(Likely) pathogenic	1 lab	808c334050
7:117188771 CFTR TC>T	7	117188771	117188772	TC	T	CFTR	c.1287del	NM_000492.4	NP_000483.3:p.(Phe430SerfsTer12)	NC_000007.13:g.117188772del	(Likely) pathogenic	1 lab	808cd86b54
18:72493396 ZNF407 A>C	18	72493396	72493396	A	C	ZNF407	c.4815A>C	NM_017757.2	NP_060227.2:p.(Val1605=)	NC_000018.9:g.72493396A>C	(Likely) benign	1 lab	808e35e969
3:38592319 SCN5A G>T	3	38592319	38592319	G	T	SCN5A	c.5544C>A	NM_198056.2	NP_932173.1:p.(Ile1848=)	NC_000003.11:g.38592319G>T	(Likely) benign	1 lab	809042ed6f
1:24690698 GRHL3 G>A	1	24690698	24690698	G	A	GRHL3				NC_000001.10:g.24690698G>A	(Likely) benign	1 lab	8795793a33
18:47787602 CFAP53 C>T	18	47787602	47787602	C	T	CFAP53	c.305G>A	NM_145020.4	NP_659457.2:p.(Arg102His)	NC_000018.9:g.47787602C>T	(Likely) benign	1 lab	8091eb52b6
5:122751721 CEP120 C>T	5	122751721	122751721	C	T	CEP120	c.304G>A	NM_153223.3	NP_694955.2:p.(Ala102Thr)	NC_000005.9:g.122751721C>T	VUS	1 lab	8092d20a2f
8:106813465 ZFPM2 T>C	8	106813465	106813465	T	C	ZFPM2	c.759T>C	NM_001362837.1	NP_001349766.1:p.(His253=)	NC_000008.10:g.106813465T>C	(Likely) benign	1 lab	8092df4aa8
2:212568934 ERBB4 T>C	2	212568934	212568934	T	C	ERBB4	c.1199-15A>G	NM_005235.2	NP_005226.1:p.?	NC_000002.11:g.212568934T>C	(Likely) benign	1 lab	8094a770c1
14:93264169 GOLGA5 T>C	14	93264169	93264169	T	C	GOLGA5	c.387T>C	NM_005113.3	NP_005104.3:p.(Ser129=)	NC_000014.8:g.93264169T>C	(Likely) benign	1 lab	8094f776ae
1:53443901 SCP2 T>C	1	53443901	53443901	T	C	SCP2	c.687T>C	NM_002979.4	NP_002970.2:p.(Asp229=)	NC_000001.10:g.53443901T>C	(Likely) benign	1 lab	8097180c1b
16:28847313 ATXN2L G>C	16	28847313	28847313	G	C	ATXN2L	c.2955G>C	NM_007245.3	NP_009176.2:p.(Pro985=)	NC_000016.9:g.28847313G>C	(Likely) benign	1 lab	8097cd80b5
4:89013401 ABCG2 A>AAGAAATAACAATTTCAGGTAGGC	4	89013401	89013425	A	AAGAAATAACAATTTCAGGTAGGC	ABCG2	c.1930_1952dup	NM_004827.2	NP_004818.2:p.(Lys652ProfsTer3)	NC_000004.11:g.89013403_89013425dup	(Likely) benign	1 lab	8098e39c65
15:72767308 ARIH1 C>G	15	72767308	72767308	C	G	ARIH1	c.328C>G	NM_005744.5	NP_005735.2:p.(Leu110Val)	NC_000015.9:g.72767308C>G	VUS	1 lab	fa01cf0ba6
9:139390878 NOTCH1 G>A	9	139390878	139390878	G	A	NOTCH1	c.7313C>T	NM_017617.5	NP_060087.3:p.(Pro2438Leu)	NC_000009.11:g.139390878G>A	(Likely) benign	1 lab	809937dca0
X:70514193 NONO T>C	X	70514193	70514193	T	C	NONO	c.465T>C	NM_001145408.1	NP_001138880.1:p.(Leu155=)	NC_000023.10:g.70514193T>C	(Likely) benign	1 lab	809a42b8cd
9:138671231 KCNT1 C>T	9	138671231	138671231	C	T	KCNT1	c.2756C>T	NM_020822.3	NP_065873.2:p.(Thr919Met)	NC_000009.11:g.138671231C>T	VUS	1 lab	fa0266b564
5:147204266 SPINK1 T>G	5	147204266	147204266	T	G	SPINK1	c.198A>C	NM_001354966.1	NP_001341895.1:p.(Lys66Asn)	NC_000005.9:g.147204266T>G	VUS	1 lab	809b3ea677
17:29653271 NF1 G>C	17	29653271	29653271	G	C	NF1	c.5205+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653271G>C	(Likely) pathogenic	1 lab	809b6a0bac
8:121705938 SNTB1 T>A	8	121705938	121705938	T	A	SNTB1	c.782A>T	NM_021021.4	NP_066301.1:p.(Glu261Val)	NC_000008.10:g.121705938T>A	VUS	1 lab	809b79f915
14:21794177 RPGRIP1 G>A	14	21794177	21794177	G	A	RPGRIP1	c.2555G>A	NM_020366.3	NP_065099.3:p.(Arg852Gln)	NC_000014.8:g.21794177G>A	(Likely) benign	1 lab	809d201fe1
16:71718457 PHLPP2 T>C	16	71718457	71718457	T	C	PHLPP2	c.657A>G	NM_001289003.1	NP_001275932.1:p.(Ala219=)	NC_000016.9:g.71718457T>C	(Likely) benign	1 lab	809e5f1b25
4:72352703 SLC4A4 G>A	4	72352703	72352703	G	A	SLC4A4	c.1942G>A	NM_001098484.2	NP_001091954.1:p.(Glu648Lys)	NC_000004.11:g.72352703G>A	(Likely) benign	1 lab	809e664321
1:227069779 PSEN2 A>G	1	227069779	227069779	A	G	PSEN2	c.141+30A>G	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227069779A>G	(Likely) benign	1 lab	80a0d1588d
2:177188159 MTX2 T>A	2	177188159	177188159	T	A	MTX2	c.145T>A	NM_001006635.2	NP_001006636.1:p.(Cys49Ser)	NC_000002.11:g.177188159T>A	(Likely) benign	1 lab	80a1b59c49
9:88270218 AGTPBP1 C>T	9	88270218	88270218	C	T	AGTPBP1	c.1083G>A	NM_001286715.1	NP_001273644.1:p.(Arg361=)	NC_000009.11:g.88270218C>T	(Likely) benign	1 lab	80a23473a4
16:1840864 IGFALS G>A	16	1840864	1840864	G	A	IGFALS	c.1669C>T	NM_001146006.1	NP_001139478.1:p.(Arg557Trp)	NC_000016.9:g.1840864G>A	VUS	1 lab	80a62133bd
14:78063556 SPTLC2 G>A	14	78063556	78063556	G	A	SPTLC2	c.300C>T	NM_004863.3	NP_004854.1:p.(His100=)	NC_000014.8:g.78063556G>A	(Likely) benign	1 lab	80a67c679d
2:128615665 POLR2D C>A	2	128615665	128615665	C	A	POLR2D	c.10G>T	NM_004805.4	NP_004796.1:p.(Gly4Cys)	NC_000002.11:g.128615665C>A	VUS	1 lab	80a694c8f0
6:35471426 TULP1 G>A	6	35471426	35471426	G	A	TULP1	c.1233C>T	NM_003322.5	NP_003313.3:p.(Asn411=)	NC_000006.11:g.35471426G>A	(Likely) benign	1 lab	80a7c6abc4
5:82786083 VCAN A>T	5	82786083	82786083	A	T	VCAN	c.237A>T	NM_004385.4	NP_004376.2:p.(Lys79Asn)	NC_000005.9:g.82786083A>T	VUS	1 lab	80a7f3d62d
9:114341111 PTGR1 C>A	9	114341111	114341111	C	A	PTGR1	c.616G>T	NM_001146108.2	NP_001139580.1:p.(Ala206Ser)	NC_000009.11:g.114341111C>A	VUS	1 lab	80a946f173
3:134278124 CEP63 A>T	3	134278124	134278124	A	T	CEP63	c.1806A>T	NM_025180.4	NP_079456.2:p.(Gln602His)	NC_000003.11:g.134278124A>T	(Likely) benign	1 lab	80aa0fc16e
6:35467877 TULP1 A>G	6	35467877	35467877	A	G	TULP1	c.1376T>C	NM_003322.5	NP_003313.3:p.(Ile459Thr)	NC_000006.11:g.35467877A>G	VUS	1 lab	80aa7a83c2
2:55913588 PNPT1 T>A	2	55913588	55913588	T	A	PNPT1	c.223-9A>T	NM_033109.4	NP_149100.2:p.?	NC_000002.11:g.55913588T>A	(Likely) benign	1 lab	80ab595dd6
19:7621340 PNPLA6 G>C	19	7621340	7621340	G	C	PNPLA6	c.3125G>C	NM_001166111.1	NP_001159583.1:p.(Ser1042Thr)	NC_000019.9:g.7621340G>C	(Likely) benign	1 lab	80ade8a652
3:195453249 MUC20 T>C	3	195453249	195453249	T	C	MUC20	c.1775T>C	NM_001282506.1	NP_001269435.1:p.(Met592Thr)	NC_000003.11:g.195453249T>C	(Likely) benign	1 lab	80ae1c4903
7:73462533 ELN T>G	7	73462533	73462533	T	G	ELN	c.745+2T>G	NM_000501.3	NP_000492.2:p.?	NC_000007.13:g.73462533T>G	(Likely) pathogenic	1 lab	80ae68bbdf
X:73963267 NEXMIF C>T	X	73963267	73963267	C	T	NEXMIF	c.1125G>A	NM_001008537.2	NP_001008537.1:p.(Glu375=)	NC_000023.10:g.73963267C>T	(Likely) benign	1 lab	80aeb38fc2
15:40916916 KNL1 T>C	15	40916916	40916916	T	C	KNL1	c.4532T>C	NM_170589.4	NP_733468.3:p.(Ile1511Thr)	NC_000015.9:g.40916916T>C	(Likely) benign	1 lab	80b0016f61
16:2134426 TSC2 T>TG	16	2134426	2134430	T	TG	TSC2	c.4207dup	NM_000548.3	NP_000539.2:p.(Asp1403GlyfsTer11)	NC_000016.9:g.2134430dup	(Likely) pathogenic	1 lab	80b0075527
5:1416254 SLC6A3 G>A	5	1416254	1416254	G	A	SLC6A3	c.990C>T	NM_001044.4	NP_001035.1:p.(Ile330=)	NC_000005.9:g.1416254G>A	(Likely) benign	1 lab	80b11b0696
X:3235952 MXRA5 C>T	X	3235952	3235952	C	T	MXRA5	c.5770G>A	NM_015419.3	NP_056234.2:p.(Gly1924Ser)	NC_000023.10:g.3235952C>T	VUS	1 lab	80b1209022
14:73683951 PSEN1 T>G	14	73683951	73683951	T	G	PSEN1	c.1247T>G	NM_000021.3	NP_000012.1:p.(Ile416Ser)	NC_000014.8:g.73683951T>G	VUS	1 lab	80b19a2760
5:140073804 HARS2 G>T	5	140073804	140073804	G	T	HARS2	c.356G>T	NM_001363535.1	NP_001350464.1:p.(Gly119Val)	NC_000005.9:g.140073804G>T	VUS	1 lab	80b2916ec2
14:105412983 AHNAK2 G>A	14	105412983	105412983	G	A	AHNAK2	c.8805C>T	NM_138420.3	NP_612429.2:p.(Pro2935=)	NC_000014.8:g.105412983G>A	(Likely) benign	1 lab	80b32cea19
X:110987996 ALG13 ACCTCCTCCTCCT>A	X	110987996	110988035	ACCTCCTCCTCCT	A	ALG13	c.2824_2835del	NM_001099922.3	NP_001093392.1:p.(Pro942_Pro945del)	NC_000023.10:g.110988024_110988035del	VUS	1 lab	80b377c0be
12:49434003 KMT2D T>C	12	49434003	49434003	T	C	KMT2D	c.7550A>G	NM_003482.3	NP_003473.3:p.(Asn2517Ser)	NC_000012.11:g.49434003T>C	(Likely) benign	1 lab	80b398ea67
2:179400370 TTN C>T	2	179400370	179400370	C	T	TTN	c.100972G>A	NM_001267550.2	NP_001254479.2:p.(Gly33658Arg)	NC_000002.11:g.179400370C>T	VUS	1 lab	fa06a32dc7
2:29287937 PCARE C>CTG	2	29287937	29287938	C	CTG	PCARE	c.3669-5_3669-4insCA	NM_001029883.2	NP_001025054.1:p.?	NC_000002.11:g.29287937_29287938insTG	(Likely) benign	1 lab	80b48cab84
16:31336875 ITGAM G>A	16	31336875	31336875	G	A	ITGAM	c.2563G>A	NM_001145808.1	NP_001139280.1:p.(Glu855Lys)	NC_000016.9:g.31336875G>A	(Likely) benign	1 lab	80b49578f4
12:6232300 VWF G>T	12	6232300	6232300	G	T	VWF	c.55+8C>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6232300G>T	(Likely) benign	1 lab	b589a0774c
6:157470068 ARID1B G>C	6	157470068	157470068	G	C	ARID1B	c.2862G>C	NM_020732.3	NP_065783.3:p.(Ala954=)	NC_000006.11:g.157470068G>C	(Likely) benign	1 lab	80b545c430
7:101845082 CUX1 C>T	7	101845082	101845082	C	T	CUX1	c.2538C>T	NM_001202543.1	NP_001189472.1:p.(Ala846=)	NC_000007.13:g.101845082C>T	VUS	1 lab	80b8126929
19:6362492 CLPP G>A	19	6362492	6362492	G	A	CLPP	c.306G>A	NM_006012.2	NP_006003.1:p.(Gln102=)	NC_000019.9:g.6362492G>A	(Likely) benign	1 lab	80bc65869a
5:13752255 DNAH5 C>A	5	13752255	13752255	C	A	DNAH5	c.11016G>T	NM_001369.2	NP_001360.1:p.(Gly3672=)	NC_000005.9:g.13752255C>A	(Likely) benign	1 lab	80bf337e5a
2:11355100 ROCK2 T>A	2	11355100	11355100	T	A	ROCK2	c.1802A>T	NM_004850.5	NP_004841.2:p.(Asp601Val)	NC_000002.11:g.11355100T>A	VUS	1 lab	fa098a16df
11:3687786 CHRNA10 A>G	11	3687786	3687786	A	G	CHRNA10	c.286T>C	NM_001303034.1	NP_001289963.1:p.(Tyr96His)	NC_000011.9:g.3687786A>G	VUS	1 lab	80bfaec79e
11:819840 PNPLA2 C>T	11	819840	819840	C	T	PNPLA2	c.122C>T	NM_020376.3	NP_065109.1:p.(Thr41Met)	NC_000011.9:g.819840C>T	(Likely) benign	1 lab	80c48b66e8
2:27430267 MISSING G>A	2	27430267	27430267	G	A	MISSING				NC_000002.11:g.27430267G>A	(Likely) benign	1 lab	80c69da524
15:51276285 AP4E1 C>T	15	51276285	51276285	C	T	AP4E1	c.1808C>T	NM_001252127.1	NP_001239056.1:p.(Ala603Val)	NC_000015.9:g.51276285C>T	VUS	1 lab	80c7170a13
6:132058570 ENPP3 GAAGT>G	6	132058570	132058579	GAAGT	G	ENPP3	c.2167+4_2167+7del	NM_005021.5	NP_005012.2:p.?	NC_000006.11:g.132058576_132058579del	VUS	1 lab	80c7384f72
9:5921755 BRD10 G>A	9	5921755	5921755	G	A	BRD10	c.4241C>T	NM_001017969.3	NP_001017969.2:p.(Ser1414Leu)	NC_000009.11:g.5921755G>A	(Likely) benign	1 lab	80c73cc073
3:35778704 ARPP21 A>G	3	35778704	35778704	A	G	ARPP21	c.1494A>G	NM_016300.4	NP_057384.2:p.(Ala498=)	NC_000003.11:g.35778704A>G	(Likely) benign	1 lab	80c9320038
7:5568285 ACTB G>A	7	5568285	5568285	G	A	ACTB	c.429C>T	NM_001101.3	NP_001092.1:p.(Tyr143=)	NC_000007.13:g.5568285G>A	(Likely) benign	1 lab	80c96d5474
7:150878019 ASB10 C>T	7	150878019	150878019	C	T	ASB10	c.1104+7G>A	NM_001142460.1	NP_001135932.2:p.?	NC_000007.13:g.150878019C>T	(Likely) benign	1 lab	80c9abd407
14:74128678 DNAL1 G>C	14	74128678	74128678	G	C	DNAL1	c.153-12G>C	NM_031427.3	NP_113615.2:p.?	NC_000014.8:g.74128678G>C	(Likely) benign	1 lab	80c9e4407e
5:140572950 PCDHB10 G>T	5	140572950	140572950	G	T	PCDHB10	c.825G>T	NM_018930.3	NP_061753.1:p.(Ala275=)	NC_000005.9:g.140572950G>T	(Likely) benign	1 lab	80cbe61ae6
1:235872552 LYST G>T	1	235872552	235872552	G	T	LYST	c.9982C>A	NM_000081.3	NP_000072.2:p.(Pro3328Thr)	NC_000001.10:g.235872552G>T	VUS	1 lab	80cca68f30
X:47272852 ZNF157 T>C	X	47272852	47272852	T	C	ZNF157	c.1380T>C	NM_003446.3	NP_003437.2:p.(His460=)	NC_000023.10:g.47272852T>C	(Likely) benign	1 lab	80cde8c5ca
13:84454787 SLITRK1 G>A	13	84454787	84454787	G	A	SLITRK1	c.856C>T	NM_052910.2	NP_443142.1:p.(Leu286=)	NC_000013.10:g.84454787G>A	(Likely) benign	1 lab	80d0707a29
X:151935572 MAGEA3 C>T	X	151935572	151935572	C	T	MAGEA3	c.595G>A	NM_005362.3	NP_005353.1:p.(Ala199Thr)	NC_000023.10:g.151935572C>T	(Likely) benign	1 lab	80df819817
7:116409690 MET TCC>T	7	116409690	116409692	TCC	T	MET	c.2584-8_2584-7del	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116409691_116409692del	(Likely) benign	1 lab	80d0f83130
6:31919110 CFB C>T	6	31919110	31919110	C	T	CFB	c.1957-8C>T	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31919110C>T	(Likely) benign	1 lab	80d19d2a84
1:150526051 ADAMTSL4 C>T	1	150526051	150526051	C	T	ADAMTSL4	c.584C>T	NM_001288608.1	NP_001275537.1:p.(Pro195Leu)	NC_000001.10:g.150526051C>T	VUS	1 lab	80d1cecb0e
10:103826594 HPS6 T>C	10	103826594	103826594	T	C	HPS6	c.1363T>C	NM_024747.5	NP_079023.2:p.(Leu455=)	NC_000010.10:g.103826594T>C	(Likely) benign	1 lab	80d2e86705
8:100874058 VPS13B G>A	8	100874058	100874058	G	A	VPS13B	c.11174G>A	NM_017890.4	NP_060360.3:p.(Arg3725Gln)	NC_000008.10:g.100874058G>A	VUS	1 lab	80d4de6ece
4:6302564 WFS1 GTCA>G	4	6302564	6302569	GTCA	G	WFS1	c.1045_1047del	NM_006005.3	NP_005996.2:p.(Ile349del)	NC_000004.11:g.6302567_6302569del	VUS	1 lab	80d941719e
11:65307628 LTBP3 C>T	11	65307628	65307628	C	T	LTBP3	c.3245-4G>A	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65307628C>T	(Likely) benign	1 lab	80db61270c
1:114380656 PTPN22 G>C	1	114380656	114380656	G	C	PTPN22	c.1366C>G	NM_015967.6	NP_057051.3:p.(Gln456Glu)	NC_000001.10:g.114380656G>C	(Likely) benign	1 lab	80dc998c1f
1:213032103 FLVCR1 C>G	1	213032103	213032103	C	G	FLVCR1	c.309C>G	NM_014053.3	NP_054772.1:p.(Leu103=)	NC_000001.10:g.213032103C>G	(Likely) benign	1 lab	80ddf8e0cf
X:66937368 AR C>A	X	66937368	66937368	C	A	AR	c.2222C>A	NM_000044.4	NP_000035.2:p.(Ser741Tyr)	NC_000023.10:g.66937368C>A	(Likely) pathogenic	1 lab	80de7b1a11
X:123631005 TENM1 T>C	X	123631005	123631005	T	C	TENM1	c.3556A>G	NM_001163278.1	NP_001156750.1:p.(Asn1186Asp)	NC_000023.10:g.123631005T>C	(Likely) benign	1 lab	80e253d34d
12:19518975 PLEKHA5 A>T	12	19518975	19518975	A	T	PLEKHA5	c.3362A>T	NM_001143821.2	NP_001137293.2:p.(Glu1121Val)	NC_000012.11:g.19518975A>T	(Likely) benign	1 lab	80e417d671
19:33422404 CEP89 C>A	19	33422404	33422404	C	A	CEP89	c.960G>T	NM_032816.5	NP_116205.3:p.(Met320Ile)	NC_000019.9:g.33422404C>A	VUS	1 lab	fbbc9e0bfa
15:28273040 OCA2 G>A	15	28273040	28273040	G	A	OCA2	c.492C>T	NM_000275.2	NP_000266.2:p.(Ile164=)	NC_000015.9:g.28273040G>A	(Likely) benign	1 lab	80e43a350f
1:186147638 HMCN1 A>G	1	186147638	186147638	A	G	HMCN1	c.16034A>G	NM_031935.2	NP_114141.2:p.(Gln5345Arg)	NC_000001.10:g.186147638A>G	VUS	1 lab	80e57b6f69
4:15581690 CC2D2A A>G	4	15581690	15581690	A	G	CC2D2A	c.3871A>G	NM_001080522.2	NP_001073991.2:p.(Ile1291Val)	NC_000004.11:g.15581690A>G	VUS	1 lab	80e5a34d41
2:136562616 LCT C>T	2	136562616	136562616	C	T	LCT	c.4185G>A	NM_002299.2	NP_002290.2:p.(Ala1395=)	NC_000002.11:g.136562616C>T	(Likely) benign	1 lab	80e6886cec
X:151870027 MAGEA6 C>G	X	151870027	151870027	C	G	MAGEA6	c.717C>G	NM_175868.2	NP_787064.1:p.(Phe239Leu)	NC_000023.10:g.151870027C>G	(Likely) benign	1 lab	80e72e31a6
6:170181471 ERMARD C>T	6	170181471	170181471	C	T	ERMARD	c.1899C>T	NM_018341.2	NP_060811.1:p.(Tyr633=)	NC_000006.11:g.170181471C>T	(Likely) benign	1 lab	80e9a996e6
19:989771 WDR18 G>A	19	989771	989771	G	A	WDR18	c.331G>A	NM_024100.3	NP_077005.2:p.(Gly111Arg)	NC_000019.9:g.989771G>A	VUS	1 lab	814c15adbf
7:117432017 CTTNBP2 T>C	7	117432017	117432017	T	C	CTTNBP2	c.1233A>G	NM_033427.2	NP_219499.1:p.(Gln411=)	NC_000007.13:g.117432017T>C	(Likely) benign	1 lab	80ecba55b8
3:129196901 IFT122 A>G	3	129196901	129196901	A	G	IFT122	c.1343A>G	NM_052985.3	NP_443711.2:p.(Tyr448Cys)	NC_000003.11:g.129196901A>G	VUS	1 lab	80edfa59bc
3:48508442 TREX1 G>A	3	48508442	48508442	G	A	TREX1	c.358G>A	NM_007248.4	NP_009179.2:p.(Asp120Asn)	NC_000003.11:g.48508442G>A	VUS	1 lab	80f02f77fd
2:179425672 TTN A>G	2	179425672	179425672	A	G	TTN	c.85187T>C	NM_001267550.1	NP_001254479.1:p.(Ile28396Thr)	NC_000002.11:g.179425672A>G	VUS	1 lab	80f0e5cc0d
7:138546162 KIAA1549 G>A	7	138546162	138546162	G	A	KIAA1549	c.4970C>T	NM_001164665.1	NP_001158137.1:p.(Ser1657Leu)	NC_000007.13:g.138546162G>A	VUS	1 lab	80f53cea00
1:197112801 ASPM G>T	1	197112801	197112801	G	T	ASPM	c.581C>A	NM_018136.4	NP_060606.3:p.(Ala194Asp)	NC_000001.10:g.197112801G>T	(Likely) benign	1 lab	80f5606581
15:28419650 HERC2 A>G	15	28419650	28419650	A	G	HERC2	c.9948T>C	NM_004667.5	NP_004658.3:p.(Cys3316=)	NC_000015.9:g.28419650A>G	(Likely) benign	1 lab	80f5fd47e3
X:122747921 THOC2 GTCCTTT>G	X	122747921	122747929	GTCCTTT	G	THOC2	c.4425_4430del	NM_001081550.2	NP_001075019.1:p.(Glu1475_Lys1476del)	NC_000023.10:g.122747924_122747929del	VUS	1 lab	fa1032cba2
3:132169690 DNAJC13 T>C	3	132169690	132169690	T	C	DNAJC13	c.536T>C	NM_001329126.1	NP_001316055.1:p.(Leu179Ser)	NC_000003.11:g.132169690T>C	VUS	1 lab	80f660a72a
11:94180501 MRE11 T>C	11	94180501	94180501	T	C	MRE11	c.1667A>G	NM_001330347.1	NP_001317276.1:p.(Asn556Ser)	NC_000011.9:g.94180501T>C	(Likely) benign	1 lab	80f8353b57
1:227173026 COQ8A C>T	1	227173026	227173026	C	T	COQ8A	c.1644C>T	NM_020247.4	NP_064632.2:p.(Thr548=)	NC_000001.10:g.227173026C>T	(Likely) benign	1 lab	80f8ad1825
20:40727148 PTPRT T>G	20	40727148	40727148	T	G	PTPRT	c.3816A>C	NM_133170.3	NP_573400.3:p.(Leu1272=)	NC_000020.10:g.40727148T>G	(Likely) benign	1 lab	80f960e9cd
16:708562 WDR90 C>T	16	708562	708562	C	T	WDR90	c.2804C>T	NM_145294.5	NP_660337.3:p.(Thr935Met)	NC_000016.9:g.708562C>T	(Likely) benign	1 lab	80fabe91ea
1:8421279 RERE G>A	1	8421279	8421279	G	A	RERE	c.2288C>T	NM_012102.4	NP_036234.3:p.(Thr763Met)	NC_000001.10:g.8421279G>A	VUS	1 lab	fa110ccbbf
12:56743043 STAT2 C>T	12	56743043	56743043	C	T	STAT2	c.1344G>A	NM_005419.4	NP_005410.1:p.(Thr448=)	NC_000012.11:g.56743043C>T	(Likely) benign	1 lab	80fe15e222
11:76901193 MYO7A GTGTGTATGCACGTGCTCGTGTGCA>G	11	76901193	76901222	GTGTGTATGCACGTGCTCGTGTGCA	G	MYO7A	c.3750+15_3750+38del	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76901199_76901222del	(Likely) benign	1 lab	80fe8d95d8
11:34910340 APIP CT>C	11	34910340	34910348	CT	C	APIP	c.283del	NM_015957.4	NP_057041.2:p.(Ser95AlafsTer8)	NC_000011.9:g.34910348del	VUS	1 lab	80fea0658a
1:1425970 ATAD3B C>T	1	1425970	1425970	C	T	ATAD3B	c.1395C>T	NM_001317238.1	NP_001304167.1:p.(Tyr465=)	NC_000001.10:g.1425970C>T	(Likely) benign	1 lab	810177304e
X:53574834 HUWE1 C>T	X	53574834	53574834	C	T	HUWE1	c.10436G>A	NM_031407.6	NP_113584.3:p.(Gly3479Asp)	NC_000023.10:g.53574834C>T	(Likely) benign	1 lab	8101c0adc6
8:10480544 RP1L1 G>T	8	10480544	10480544	G	T	RP1L1	c.168C>A	NM_178857.5	NP_849188.4:p.(Arg56=)	NC_000008.10:g.10480544G>T	(Likely) benign	1 lab	8102278fee
13:32913210 BRCA2 G>A	13	32913210	32913210	G	A	BRCA2	c.4718G>A	NM_000059.4	NP_000050.3:p.(Cys1573Tyr)	NC_000013.10:g.32913210G>A	(Likely) benign	1 lab	fa11a4e179
12:7283281 CLSTN3 C>G	12	7283281	7283281	C	G	CLSTN3	c.37C>G	NM_014718.3	NP_055533.2:p.(Leu13Val)	NC_000012.11:g.7283281C>G	(Likely) benign	1 lab	8107447a43
20:34055327 CEP250 G>A	20	34055327	34055327	G	A	CEP250	c.798G>A	NM_007186.5	NP_009117.2:p.(Glu266=)	NC_000020.10:g.34055327G>A	(Likely) benign	1 lab	810747f42b
20:57428327 GNAS G>A	20	57428327	57428327	G	A	GNAS	c.7G>A	NM_080425.3	NP_536350.2:p.(Val3Met)	NC_000020.10:g.57428327G>A	(Likely) benign	1 lab	8107522463
1:983243 AGRN C>T	1	983243	983243	C	T	AGRN	c.3719C>T	NM_001305275.2	NP_001292204.1:p.(Pro1240Leu)	NC_000001.10:g.983243C>T	VUS	1 lab	8108be6aa7
11:6644643 DCHS1 C>T	11	6644643	6644643	C	T	DCHS1				NC_000011.9:g.6644643C>T	(Likely) benign	1 lab	810b5d9df5
4:2307087 ZFYVE28 G>A	4	2307087	2307087	G	A	ZFYVE28	c.770C>T	NM_001172659.1	NP_001166130.1:p.(Pro257Leu)	NC_000004.11:g.2307087G>A	(Likely) benign	1 lab	810b7de137
17:17707156 RAI1 C>T	17	17707156	17707156	C	T	RAI1	c.5652C>T	NM_030665.3	NP_109590.3:p.(Ser1884=)	NC_000017.10:g.17707156C>T	(Likely) benign	1 lab	810c81075a
17:29557276 NF1 A>T	17	29557276	29557276	A	T	NF1	c.2991-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557276A>T	(Likely) pathogenic	1 lab	810e9a5e8d
22:42322718 TNFRSF13C G>A	22	42322718	42322718	G	A	TNFRSF13C	c.60C>T	NM_052945.3	NP_443177.1:p.(Val20=)	NC_000022.10:g.42322718G>A	(Likely) benign	1 lab	8110e4acda
5:225612 SDHA G>A	5	225612	225612	G	A	SDHA	c.391G>A	NM_004168.4	NP_004159.2:p.(Asp131Asn)	NC_000005.9:g.225612G>A	VUS	1 lab	fa11e7f860
12:106827576 POLR3B T>C	12	106827576	106827576	T	C	POLR3B	c.1707T>C	NM_018082.5	NP_060552.4:p.(Asn569=)	NC_000012.11:g.106827576T>C	(Likely) benign	1 lab	81139a9651
17:29664416 NF1 T>C	17	29664416	29664416	T	C	NF1	c.6395T>C	NM_000267.3	NP_000258.1:p.(Leu2132Pro)	NC_000017.10:g.29664416T>C	VUS	1 lab	811574a57a
16:85701796 GSE1 G>A	16	85701796	85701796	G	A	GSE1	c.3181G>A	NM_014615.4	NP_055430.1:p.(Val1061Ile)	NC_000016.9:g.85701796G>A	(Likely) benign	1 lab	81158d6dd0
11:124746272 ROBO3 G>T	11	124746272	124746272	G	T	ROBO3	c.2695G>T	NM_022370.3	NP_071765.2:p.(Ala899Ser)	NC_000011.9:g.124746272G>T	VUS	1 lab	8115a700a0
2:179523502 TTN C>T	2	179523502	179523502	C	T	TTN	c.37473G>A	NM_001267550.1	NP_001254479.1:p.(Pro12491=)	NC_000002.11:g.179523502C>T	(Likely) benign	1 lab	81167cff97
2:233387833 PRSS56 G>A	2	233387833	233387833	G	A	PRSS56	c.770G>A	NM_001195129.1	NP_001182058.1:p.(Arg257Gln)	NC_000002.11:g.233387833G>A	(Likely) benign	1 lab	81170fdc88
3:48462361 PLXNB1 G>A	3	48462361	48462361	G	A	PLXNB1	c.1815C>T	NM_002673.5	NP_002664.2:p.(Tyr605=)	NC_000003.11:g.48462361G>A	(Likely) benign	1 lab	811bb86428
7:82545246 PCLO C>G	7	82545246	82545246	C	G	PCLO	c.12056G>C	NM_033026.5	NP_149015.2:p.(Ser4019Thr)	NC_000007.13:g.82545246C>G	(Likely) benign	1 lab	811bfb87b1
9:34647830 GALT A>G	9	34647830	34647830	A	G	GALT	c.379A>G	NM_000155.4	NP_000146.2:p.(Lys127Glu)	NC_000009.11:g.34647830A>G	(Likely) pathogenic	1 lab	fa14ecdf32
12:101732022 UTP20 T>C	12	101732022	101732022	T	C	UTP20	c.3835T>C	NM_014503.3	NP_055318.2:p.(Cys1279Arg)	NC_000012.11:g.101732022T>C	VUS	1 lab	811dbba511
10:123279620 FGFR2 C>A	10	123279620	123279620	C	A	FGFR2	c.812G>T	NM_000141.4	NP_000132.3:p.(Gly271Val)	NC_000010.10:g.123279620C>A	(Likely) pathogenic	1 lab	811e1dc16a
1:197446959 CRB1 G>C	1	197446959	197446959	G	C	CRB1	c.4099G>C	NM_001257965.2	NP_001244894.1:p.(Val1367Leu)	NC_000001.10:g.197446959G>C	VUS	1 lab	fa15389497
16:2123018 TSC2 GGGGCCTGGGATTCGA>G	16	2123018	2123041	GGGGCCTGGGATTCGA	G	TSC2	c.2355+43_2355+57del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2123027_2123041del	(Likely) benign	1 lab	811e396fb3
19:14877157 ADGRE2 T>G	19	14877157	14877157	T	G	ADGRE2	c.524A>C	NM_013447.3	NP_038475.2:p.(His175Pro)	NC_000019.9:g.14877157T>G	(Likely) benign	1 lab	811ed5dd29
2:176957821 HOXD13 C>CA	2	176957821	176957822	C	CA	HOXD13	c.203_204insA	NM_000523.4	NP_000514.2:p.(Ala69GlyfsTer13)	NC_000002.11:g.176957821_176957822insA	VUS	1 lab	fa1719233d
X:103359368 ZCCHC18 G>A	X	103359368	103359368	G	A	ZCCHC18	c.566G>A	NM_001143978.3	NP_001137450.1:p.(Arg189His)	NC_000023.10:g.103359368G>A	(Likely) benign	1 lab	81202a741a
17:29550526 NF1 A>AT	17	29550526	29550528	A	AT	NF1	c.1788dup	NM_000267.3	NP_000258.1:p.(Leu597SerfsTer13)	NC_000017.10:g.29550528dup	(Likely) pathogenic	1 lab	8122062cf8
15:89760394 RLBP1 G>A	15	89760394	89760394	G	A	RLBP1	c.303C>T	NM_000326.4	NP_000317.1:p.(Arg101=)	NC_000015.9:g.89760394G>A	(Likely) benign	1 lab	81245c89fb
7:2586949 BRAT1 C>T	7	2586949	2586949	C	T	BRAT1	c.282+9G>A	NM_001350626.1	NP_001337555.1:p.?	NC_000007.13:g.2586949C>T	(Likely) benign	1 lab	81279d006e
11:118963736 HMBS C>T	11	118963736	118963736	C	T	HMBS	c.912+5C>T	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118963736C>T	(Likely) benign	1 lab	8128087bb1
2:238287631 COL6A3 C>A	2	238287631	238287631	C	A	COL6A3	c.2145G>T	NM_004369.3	NP_004360.2:p.(Ser715=)	NC_000002.11:g.238287631C>A	(Likely) benign	1 lab	812902c209
7:751128 PRKAR1B G>A	7	751128	751128	G	A	PRKAR1B	c.15C>T	NM_001164761.1	NP_001158233.1:p.(Pro5=)	NC_000007.13:g.751128G>A	(Likely) benign	1 lab	812addd873
6:112437148 LAMA4 C>T	6	112437148	112437148	C	T	LAMA4	c.5030G>A	NM_001105206.2	NP_001098676.2:p.(Arg1677His)	NC_000006.11:g.112437148C>T	VUS	1 lab	812b672e41
11:99690461 CNTN5 A>G	11	99690461	99690461	A	G	CNTN5	c.242A>G	NM_014361.3	NP_055176.1:p.(Asn81Ser)	NC_000011.9:g.99690461A>G	(Likely) benign	1 lab	812c3df829
12:9086964 PHC1 G>T	12	9086964	9086964	G	T	PHC1	c.2143G>T	NM_004426.2	NP_004417.2:p.(Val715Leu)	NC_000012.11:g.9086964G>T	(Likely) benign	1 lab	812db216d5
2:111416306 BUB1 A>G	2	111416306	111416306	A	G	BUB1	c.1290T>C	NM_004336.4	NP_004327.1:p.(His430=)	NC_000002.11:g.111416306A>G	(Likely) benign	1 lab	812eacf832
4:140450279 SETD7 A>G	4	140450279	140450279	A	G	SETD7	c.468T>C	NM_030648.3	NP_085151.1:p.(Tyr156=)	NC_000004.11:g.140450279A>G	(Likely) benign	1 lab	812ebbc87a
8:100025581 VPS13B C>G	8	100025581	100025581	C	G	VPS13B	c.-30+6C>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100025581C>G	(Likely) benign	1 lab	fa1972890f
5:50685756 ISL1 A>G	5	50685756	50685756	A	G	ISL1	c.755A>G	NM_002202.3	NP_002193.2:p.(Asn252Ser)	NC_000005.9:g.50685756A>G	VUS	1 lab	fa1e20cc8d
1:986645 AGRN G>A	1	986645	986645	G	A	AGRN	c.4963G>A	NM_001364727.1	NP_001351656.1:p.(Val1655Ile)	NC_000001.10:g.986645G>A	VUS	1 lab	812ff7e6bb
10:123276892 FGFR2 C>A	10	123276892	123276892	C	A	FGFR2	c.1025G>T	NM_000141.4	NP_000132.3:p.(Cys342Phe)	NC_000010.10:g.123276892C>A	(Likely) pathogenic	1 lab	8131880d49
6:7586076 DSP TC>T	6	7586076	7586078	TC	T	DSP	c.8583del	NM_004415.4	NP_004406.2:p.(Tyr2862ThrfsTer21)	NC_000006.11:g.7586078del	VUS	1 lab	fa2121afe9
2:179598449 TTN C>A	2	179598449	179598449	C	A	TTN	c.15667G>T	NM_001267550.1	NP_001254479.1:p.(Ala5223Ser)	NC_000002.11:g.179598449C>A	VUS	1 lab	81320e49c8
2:15607935 NBAS G>T	2	15607935	15607935	G	T	NBAS	c.1878-7C>A	NM_015909.3	NP_056993.2:p.?	NC_000002.11:g.15607935G>T	(Likely) benign	1 lab	81322e3263
3:132440961 NPHP3 G>A	3	132440961	132440961	G	A	NPHP3	c.239C>T	NM_153240.4	NP_694972.3:p.(Ser80Leu)	NC_000003.11:g.132440961G>A	VUS	1 lab	8134970236
6:50803768 TFAP2B TTCTAGTTCCA>T	6	50803768	50803778	TTCTAGTTCCA	T	TFAP2B	c.602-5_606del	NM_003221.4	NP_003212.2:p.?	NC_000006.11:g.50803769_50803778del	(Likely) pathogenic	1 lab	8134992dd8
3:123456297 MYLK C>G	3	123456297	123456297	C	G	MYLK	c.682G>C	NM_053025.3	NP_444253.3:p.(Val228Leu)	NC_000003.11:g.123456297C>G	(Likely) benign	1 lab	8134f06395
12:88452637 CEP290 A>G	12	88452637	88452637	A	G	CEP290	c.6806T>C	NM_025114.3	NP_079390.3:p.(Ile2269Thr)	NC_000012.11:g.88452637A>G	(Likely) benign	1 lab	8135006090
4:7728630 SORCS2 G>C	4	7728630	7728630	G	C	SORCS2	c.2869G>C	NM_020777.2	NP_065828.2:p.(Asp957His)	NC_000004.11:g.7728630G>C	VUS	1 lab	813669fcfd
1:161595986 FCGR3B C>A	1	161595986	161595986	C	A	FCGR3B	c.526G>T	NM_001244753.2	NP_001231682.2:p.(Val176Phe)	NC_000001.10:g.161595986C>A	(Likely) benign	1 lab	8136aca634
1:161816280 ATF6 G>A	1	161816280	161816280	G	A	ATF6	c.1229G>A	NM_007348.3	NP_031374.2:p.(Ser410Asn)	NC_000001.10:g.161816280G>A	(Likely) benign	1 lab	8137f69bf6
19:35613772 FXYD3 G>A	19	35613772	35613772	G	A	FXYD3	c.201G>A	NM_021910.2	NP_068710.1:p.(Ala67=)	NC_000019.9:g.35613772G>A	(Likely) benign	1 lab	8137f892e4
12:53045645 KRT2 A>G	12	53045645	53045645	A	G	KRT2	c.282T>C	NM_000423.2	NP_000414.2:p.(Gly94=)	NC_000012.11:g.53045645A>G	(Likely) benign	1 lab	813869f115
7:138603100 KIAA1549 G>A	7	138603100	138603100	G	A	KIAA1549	c.1272C>T	NM_001164665.1	NP_001158137.1:p.(Cys424=)	NC_000007.13:g.138603100G>A	(Likely) benign	1 lab	8138cc19f9
X:120009316 CT47B1 G>A	X	120009316	120009316	G	A	CT47B1	c.209C>T	NM_001145718.1	NP_001139190.1:p.(Ala70Val)	NC_000023.10:g.120009316G>A	(Likely) benign	1 lab	813994fb75
17:76045608 TNRC6C G>A	17	76045608	76045608	G	A	TNRC6C	c.465G>A	NM_001142640.1	NP_001136112.1:p.(Leu155=)	NC_000017.10:g.76045608G>A	(Likely) benign	1 lab	813d689960
1:103444946 COL11A1 C>G	1	103444946	103444946	C	G	COL11A1	c.2638G>C	NM_080629.2	NP_542196.2:p.(Gly880Arg)	NC_000001.10:g.103444946C>G	VUS	1 lab	813d91ed34
14:64690107 SYNE2 A>G	14	64690107	64690107	A	G	SYNE2	c.20382+9A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64690107A>G	(Likely) benign	1 lab	813d9cd205
22:37334087 CSF2RB C>A	22	37334087	37334087	C	A	CSF2RB	c.2237C>A	NM_000395.2	NP_000386.1:p.(Pro746His)	NC_000022.10:g.37334087C>A	VUS	1 lab	813dc55cda
19:38684340 SIPA1L3 G>A	19	38684340	38684340	G	A	SIPA1L3	c.4760G>A	NM_015073.2	NP_055888.1:p.(Arg1587His)	NC_000019.9:g.38684340G>A	VUS	1 lab	813f4eafc7
17:73513753 TSEN54 C>T	17	73513753	73513753	C	T	TSEN54	c.468+17C>T	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73513753C>T	(Likely) benign	1 lab	81401e0ab9
11:89939427 CHORDC1 A>G	11	89939427	89939427	A	G	CHORDC1	c.449T>C	NM_001144073.1	NP_001137545.1:p.(Leu150Pro)	NC_000011.9:g.89939427A>G	(Likely) benign	1 lab	8142c0ddf1
X:106845069 FRMPD3 A>G	X	106845069	106845069	A	G	FRMPD3	c.3899A>G	NM_032428.2	NP_115804.1:p.(Tyr1300Cys)	NC_000023.10:g.106845069A>G	(Likely) benign	1 lab	8142d41790
14:31535431 AP4S1 A>G	14	31535431	31535431	A	G	AP4S1	c.29A>G	NM_001254728.1	NP_001241657.1:p.(Lys10Arg)	NC_000014.8:g.31535431A>G	(Likely) benign	1 lab	81431d5622
X:10096164 WWC3 G>A	X	10096164	10096164	G	A	WWC3	c.2243G>A	NM_015691.3	NP_056506.2:p.(Arg748Gln)	NC_000023.10:g.10096164G>A	(Likely) benign	1 lab	81436b5004
1:3102704 PRDM16 TA>T	1	3102704	3102707	TA	T	PRDM16	c.56del	NM_022114.4	NP_071397.3:p.(Asn19IlefsTer114)	NC_000001.10:g.3102707del	(Likely) pathogenic	1 lab	8143be4db6
1:91850743 HFM1 C>G	1	91850743	91850743	C	G	HFM1	c.802+1G>C	NM_001017975.4	NP_001017975.4:p.?	NC_000001.10:g.91850743C>G	(Likely) benign	1 lab	8145a67dd2
17:7916571 GUCY2D G>A	17	7916571	7916571	G	A	GUCY2D	c.2263+1G>A	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7916571G>A	VUS	1 lab	8145aaf535
X:1464312 IL3RA C>A	X	1464312	1464312	C	A	IL3RA	c.168C>A	NM_002183.3	NP_002174.1:p.(Ala56=)	NC_000023.10:g.1464312C>A	(Likely) benign	1 lab	8146b7c7e7
16:1035189 SOX8 G>A	16	1035189	1035189	G	A	SOX8	c.1144G>A	NM_014587.4	NP_055402.2:p.(Asp382Asn)	NC_000016.9:g.1035189G>A	VUS	1 lab	8147d860bb
2:220432094 OBSL1 C>T	2	220432094	220432094	C	T	OBSL1	c.1738G>A	NM_015311.2	NP_056126.1:p.(Asp580Asn)	NC_000002.11:g.220432094C>T	VUS	1 lab	8147f5d5ac
20:47587699 ARFGEF2 C>T	20	47587699	47587699	C	T	ARFGEF2	c.1233C>T	NM_006420.2	NP_006411.2:p.(Leu411=)	NC_000020.10:g.47587699C>T	(Likely) benign	1 lab	8148a5d27d
5:150925669 FAT2 G>A	5	150925669	150925669	G	A	FAT2	c.5019C>T	NM_001447.2	NP_001438.1:p.(Ile1673=)	NC_000005.9:g.150925669G>A	(Likely) benign	1 lab	8148b9f579
22:38877229 KDELR3 TTCTC>T	22	38877229	38877234	TTCTC	T	KDELR3	c.366_369del	NM_006855.4	NP_006846.1:p.(Phe122LeufsTer15)	NC_000022.10:g.38877231_38877234del	VUS	1 lab	8148cb288c
4:6296827 WFS1 G>A	4	6296827	6296827	G	A	WFS1	c.772G>A	NM_006005.3	NP_005996.2:p.(Val258Ile)	NC_000004.11:g.6296827G>A	(Likely) benign	1 lab	8149180508
14:23889145 MYH7 C>T	14	23889145	23889145	C	T	MYH7	c.3635G>A	NM_000257.4	NP_000248.2:p.(Arg1212Gln)	NC_000014.8:g.23889145C>T	VUS	1 lab	fa28b039ed
X:50381165 SHROOM4 T>C	X	50381165	50381165	T	C	SHROOM4	c.404+9A>G	NM_020717.3	NP_065768.2:p.?	NC_000023.10:g.50381165T>C	(Likely) benign	1 lab	814d47207a
17:79768961 GCGR G>A	17	79768961	79768961	G	A	GCGR	c.347G>A	NM_000160.4	NP_000151.1:p.(Arg116His)	NC_000017.10:g.79768961G>A	VUS	1 lab	814d55100d
9:135782188 TSC1 T>G	9	135782188	135782188	T	G	TSC1	c.1368A>C	NM_000368.4	NP_000359.1:p.(Leu456=)	NC_000009.11:g.135782188T>G	(Likely) benign	1 lab	814dd9b1ed
22:38525541 PLA2G6 A>C	22	38525541	38525541	A	C	PLA2G6	c.1106T>G	NM_003560.2	NP_003551.2:p.(Leu369Arg)	NC_000022.10:g.38525541A>C	VUS	1 lab	814f272439
X:118892754 SOWAHD T>C	X	118892754	118892754	T	C	SOWAHD	c.124T>C	NM_001105576.3	NP_001099046.1:p.(Tyr42His)	NC_000023.10:g.118892754T>C	VUS	1 lab	814f95c8e4
19:5144315 KDM4B C>T	19	5144315	5144315	C	T	KDM4B	c.2793C>T	NM_015015.3	NP_055830.1:p.(Asn931=)	NC_000019.9:g.5144315C>T	(Likely) benign	1 lab	814fb8a57b
11:94212011 MRE11 C>G	11	94212011	94212011	C	G	MRE11	c.434G>C	NM_001330347.1	NP_001317276.1:p.(Ser145Thr)	NC_000011.9:g.94212011C>G	VUS	1 lab	815234799d
15:59470697 MYO1E C>G	15	59470697	59470697	C	G	MYO1E	c.1944G>C	NM_004998.3	NP_004989.2:p.(Gln648His)	NC_000015.9:g.59470697C>G	(Likely) benign	1 lab	815334ad34
9:135781461 TSC1 CT>C	9	135781461	135781462	CT	C	TSC1	c.1503del	NM_000368.5	NP_000359.1:p.(Gly502AlafsTer30)	NC_000009.11:g.135781462del	(Likely) pathogenic	1 lab	8153db1e8e
15:28478926 HERC2 A>G	15	28478926	28478926	A	G	HERC2	c.4235T>C	NM_004667.5	NP_004658.3:p.(Ile1412Thr)	NC_000015.9:g.28478926A>G	VUS	1 lab	8155ffb13d
3:164700083 SI G>A	3	164700083	164700083	G	A	SI	c.5363C>T	NM_001041.3	NP_001032.2:p.(Thr1788Met)	NC_000003.11:g.164700083G>A	(Likely) benign	1 lab	81569060fc
14:94413703 ASB2 G>T	14	94413703	94413703	G	T	ASB2	c.1044C>A	NM_001202429.1	NP_001189358.1:p.(Gly348=)	NC_000014.8:g.94413703G>T	(Likely) benign	1 lab	815937f5ba
16:14704573 PARN T>C	16	14704573	14704573	T	C	PARN	c.482A>G	NM_002582.4	NP_002573.1:p.(Tyr161Cys)	NC_000016.9:g.14704573T>C	VUS	1 lab	815a41511c
11:62300153 AHNAK G>A	11	62300153	62300153	G	A	AHNAK	c.1736C>T	NM_001620.2	NP_001611.1:p.(Ala579Val)	NC_000011.9:g.62300153G>A	(Likely) benign	1 lab	815bc9ac92
4:155508789 FGA G>A	4	155508789	155508789	G	A	FGA	c.385C>T	NM_000508.3	NP_000499.1:p.(Arg129Ter)	NC_000004.11:g.155508789G>A	(Likely) pathogenic	1 lab	815ce25957
18:21404424 LAMA3 T>A	18	21404424	21404424	T	A	LAMA3	c.2466T>A	NM_198129.2	NP_937762.2:p.(Ser822Arg)	NC_000018.9:g.21404424T>A	VUS	1 lab	815cfe49bd
6:24830801 RIPOR2 C>T	6	24830801	24830801	C	T	RIPOR2	c.2505G>A	NM_014722.4	NP_055537.2:p.(Met835Ile)	NC_000006.11:g.24830801C>T	VUS	1 lab	815e219c64
10:54031126 PRKG1 A>G	10	54031126	54031126	A	G	PRKG1	c.1145A>G	NM_001098512.3	NP_001091982.1:p.(Glu382Gly)	NC_000010.10:g.54031126A>G	VUS	1 lab	81601b62b4
X:24830891 POLA1 G>A	X	24830891	24830891	G	A	POLA1	c.3189G>A	NM_016937.3	NP_058633.2:p.(Thr1063=)	NC_000023.10:g.24830891G>A	(Likely) benign	1 lab	8160c331a4
11:134014673 JAM3 C>CCTT	11	134014673	134014674	C	CCTT	JAM3	c.410-14_410-13insCTT	NM_032801.4	NP_116190.3:p.?	NC_000011.9:g.134014673_134014674insCTT	(Likely) benign	1 lab	8163751634
14:68191285 RDH12 C>T	14	68191285	68191285	C	T	RDH12	c.164C>T	NM_152443.2	NP_689656.2:p.(Thr55Met)	NC_000014.8:g.68191285C>T	(Likely) pathogenic	1 lab	8163b1c7c2
5:138456816 SIL1 G>A	5	138456816	138456816	G	A	SIL1	c.152C>T	NM_001037633.1	NP_001032722.1:p.(Thr51Ile)	NC_000005.9:g.138456816G>A	(Likely) benign	1 lab	81651e065f
X:110644445 DCX G>T	X	110644445	110644445	G	T	DCX	c.478C>A	NM_178153.3	NP_835366.1:p.(Gln160Lys)	NC_000023.10:g.110644445G>T	VUS	1 lab	fa31010132
1:154245888 HAX1 T>TA	1	154245888	154245889	T	TA	HAX1	c.130_131insA	NM_006118.3	NP_006109.2:p.(Trp44Ter)	NC_000001.10:g.154245888_154245889insA	(Likely) pathogenic	1 lab	8166d6264b
9:131862240 CRAT G>A	9	131862240	131862240	G	A	CRAT	c.927C>T	NM_001257363.2	NP_001244292.1:p.(Ile309=)	NC_000009.11:g.131862240G>A	(Likely) benign	1 lab	8167f0d82d
9:101904957 TGFBR1 T>C	9	101904957	101904957	T	C	TGFBR1	c.957T>C	NM_001306210.1	NP_001293139.1:p.(His319=)	NC_000009.11:g.101904957T>C	(Likely) benign	1 lab	8168745c5b
16:57695887 ADGRG1 A>G	16	57695887	57695887	A	G	ADGRG1	c.1933+10A>G	NM_001145772.2	NP_001139244.1:p.?	NC_000016.9:g.57695887A>G	(Likely) benign	1 lab	81689c06f0
15:62306138 VPS13C T>A	15	62306138	62306138	T	A	VPS13C	c.738A>T	NM_001018088.2	NP_001018098.1:p.(Ile246=)	NC_000015.9:g.62306138T>A	(Likely) benign	1 lab	8168aab1da
10:16918924 CUBN G>A	10	16918924	16918924	G	A	CUBN	c.9078C>T	NM_001081.3	NP_001072.2:p.(Phe3026=)	NC_000010.10:g.16918924G>A	(Likely) benign	1 lab	816911996d
X:100103712 NOX1 G>A	X	100103712	100103712	G	A	NOX1	c.1475C>T	NM_007052.4	NP_008983.2:p.(Ala492Val)	NC_000023.10:g.100103712G>A	(Likely) benign	1 lab	816b67a74f
21:46925325 COL18A1 A>AGCC	21	46925325	46925326	A	AGCC	COL18A1	c.3058_3059insGCC	NM_130445.2	NP_569712.2:p.(Thr1020delinsSerPro)	NC_000021.8:g.46925325_46925326insGCC	(Likely) pathogenic	1 lab	816b94a6ba
X:140785772 MISSING C>T	X	140785772	140785772	C	T	MISSING				NC_000023.10:g.140785772C>T	(Likely) benign	1 lab	816cdd81b1
19:1221316 STK11 CCCCGCTCTCTGACCTGC>GGGA	19	1221316	1221333	CCCCGCTCTCTGACCTGC	GGGA	STK11	c.839_856delinsGGGA	NM_000455.4	NP_000446.1:p.(Pro280ArgfsTer7)	NC_000019.9:g.1221316_1221333delinsGGGA	(Likely) pathogenic	1 lab	816db2b4da
7:4830190 AP5Z1 C>G	7	4830190	4830190	C	G	AP5Z1	c.1906C>G	NM_014855.3	NP_055670.1:p.(Leu636Val)	NC_000007.13:g.4830190C>G	(Likely) benign	1 lab	816fa96da7
X:50350725 SHROOM4 T>C	X	50350725	50350725	T	C	SHROOM4	c.3417A>G	NM_020717.3	NP_065768.2:p.(Glu1139=)	NC_000023.10:g.50350725T>C	(Likely) benign	1 lab	8170ed8254
2:179449619 TTN G>A	2	179449619	179449619	G	A	TTN	c.64749C>T	NM_001267550.1	NP_001254479.1:p.(Ile21583=)	NC_000002.11:g.179449619G>A	(Likely) benign	1 lab	8172ff7574
13:39266011 FREM2 A>G	13	39266011	39266011	A	G	FREM2	c.4530A>G	NM_207361.5	NP_997244.4:p.(Gln1510=)	NC_000013.10:g.39266011A>G	(Likely) benign	1 lab	81730db6cc
7:2054128 MAD1L1 G>A	7	2054128	2054128	G	A	MAD1L1	c.1359+9C>T	NM_003550.2	NP_003541.2:p.?	NC_000007.13:g.2054128G>A	(Likely) benign	1 lab	817366e456
5:135385161 TGFBI C>T	5	135385161	135385161	C	T	TGFBI	c.805C>T	NM_000358.2	NP_000349.1:p.(Leu269Phe)	NC_000005.9:g.135385161C>T	(Likely) benign	1 lab	8174003d97
15:66215302 MEGF11 G>A	15	66215302	66215302	G	A	MEGF11	c.1681C>T	NM_032445.2	NP_115821.2:p.(Arg561Cys)	NC_000015.9:g.66215302G>A	VUS	1 lab	817452517c
1:236910999 ACTN2 A>G	1	236910999	236910999	A	G	ACTN2	c.1439A>G	NM_001103.3	NP_001094.1:p.(Asn480Ser)	NC_000001.10:g.236910999A>G	VUS	1 lab	8178e8ce1e
13:20567744 ZMYM2 C>T	13	20567744	20567744	C	T	ZMYM2	c.532C>T	NM_003453.6	NP_003444.1:p.(Pro178Ser)	NC_000013.10:g.20567744C>T	VUS	1 lab	fa36073185
10:89692976 PTEN T>G	10	89692976	89692976	T	G	PTEN	c.460T>G	NM_000314.4	NP_000305.3:p.(Phe154Val)	NC_000010.10:g.89692976T>G	VUS	1 lab	817ea5ed9c
18:28972253 DSG4 G>A	18	28972253	28972253	G	A	DSG4	c.955G>A	NM_001134453.2	NP_001127925.1:p.(Asp319Asn)	NC_000018.9:g.28972253G>A	VUS	1 lab	8180a9fbfe
3:9932470 JAGN1 C>T	3	9932470	9932470	C	T	JAGN1	c.64C>T	NM_032492.4	NP_115881.3:p.(Arg22Cys)	NC_000003.11:g.9932470C>T	VUS	1 lab	81819b233e
2:179501436 TTN G>A	2	179501436	179501436	G	A	TTN	c.41018C>T	NM_001267550.2	NP_001254479.2:p.(Pro13673Leu)	NC_000002.11:g.179501436G>A	(Likely) benign	1 lab	fa391879a5
17:39506775 KRT33A G>A	17	39506775	39506775	G	A	KRT33A	c.245C>T	NM_004138.3	NP_004129.2:p.(Ala82Val)	NC_000017.10:g.39506775G>A	VUS	1 lab	8181e7cafa
16:78458956 WWOX G>T	16	78458956	78458956	G	T	WWOX	c.791+4G>T	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78458956G>T	(Likely) benign	1 lab	fa39e34153
X:100105338 NOX1 A>G	X	100105338	100105338	A	G	NOX1	c.935T>C	NM_007052.4	NP_008983.2:p.(Met312Thr)	NC_000023.10:g.100105338A>G	(Likely) benign	1 lab	81836e2760
11:26677920 ANO3 C>T	11	26677920	26677920	C	T	ANO3	c.2841-3C>T	NM_001313726.1	NP_001300655.1:p.?	NC_000011.9:g.26677920C>T	(Likely) benign	1 lab	8184fbd074
1:24663311 GRHL3 A>T	1	24663311	24663311	A	T	GRHL3	c.606A>T	NM_198173.2	NP_937816.1:p.(Pro202=)	NC_000001.10:g.24663311A>T	(Likely) benign	1 lab	81868f7710
X:75003378 MAGEE2 C>A	X	75003378	75003378	C	A	MAGEE2	c.1509G>T	NM_138703.4	NP_619648.1:p.(Val503=)	NC_000023.10:g.75003378C>A	(Likely) benign	1 lab	8186f1fc9d
X:118220742 KIAA1210 G>A	X	118220742	118220742	G	A	KIAA1210	c.4451C>T	NM_020721.1	NP_065772.1:p.(Pro1484Leu)	NC_000023.10:g.118220742G>A	VUS	1 lab	8187f0ac91
X:129208097 ELF4 C>T	X	129208097	129208097	C	T	ELF4	c.267G>A	NM_001421.3	NP_001412.1:p.(Ser89=)	NC_000023.10:g.129208097C>T	(Likely) benign	1 lab	81889b7b56
9:139298645 ENTR1 G>A	9	139298645	139298645	G	A	ENTR1	c.1070C>T	NM_001039707.2	NP_001034796.1:p.(Ala357Val)	NC_000009.11:g.139298645G>A	(Likely) benign	1 lab	818bd1cfc6
12:56745091 STAT2 T>C	12	56745091	56745091	T	C	STAT2	c.914A>G	NM_198332.1	NP_938146.1:p.(Gln305Arg)	NC_000012.11:g.56745091T>C	VUS	1 lab	818bf4072e
19:9088759 MUC16 G>A	19	9088759	9088759	G	A	MUC16	c.3056C>T	NM_024690.2	NP_078966.2:p.(Thr1019Ile)	NC_000019.9:g.9088759G>A	(Likely) benign	1 lab	818c09fdbb
6:152652626 SYNE1 C>G	6	152652626	152652626	C	G	SYNE1	c.13194G>C	NM_182961.3	NP_892006.3:p.(Gln4398His)	NC_000006.11:g.152652626C>G	(Likely) benign	1 lab	818d171d11
7:158669371 DYNC2I1 C>T	7	158669371	158669371	C	T	DYNC2I1	c.562C>T	NM_018051.4	NP_060521.4:p.(Arg188Ter)	NC_000007.13:g.158669371C>T	(Likely) pathogenic	1 lab	818f5abf4a
3:195510085 MUC4 C>T	3	195510085	195510085	C	T	MUC4	c.8366G>A	NM_018406.6	NP_060876.5:p.(Ser2789Asn)	NC_000003.11:g.195510085C>T	(Likely) benign	1 lab	818f669db6
11:6661562 DCHS1 C>T	11	6661562	6661562	C	T	DCHS1				NC_000011.9:g.6661562C>T	VUS	1 lab	818f6e1110
3:128199958 GATA2 G>T	3	128199958	128199958	G	T	GATA2	c.1347C>A	NM_001145661.1	NP_001139133.1:p.(Ser449=)	NC_000003.11:g.128199958G>T	(Likely) benign	1 lab	8190735bef
3:148930331 CP T>C	3	148930331	148930331	T	C	CP	c.301A>G	NM_000096.3	NP_000087.1:p.(Thr101Ala)	NC_000003.11:g.148930331T>C	(Likely) benign	1 lab	8191ee01fc
15:52635361 MYO5A C>T	15	52635361	52635361	C	T	MYO5A	c.3993G>A	NM_000259.3	NP_000250.3:p.(Glu1331=)	NC_000015.9:g.52635361C>T	(Likely) benign	1 lab	8192622618
1:12943068 PRAMEF4 G>A	1	12943068	12943068	G	A	PRAMEF4	c.148C>T	NM_001009611.4	NP_001009611.2:p.(Arg50Cys)	NC_000001.10:g.12943068G>A	(Likely) benign	1 lab	8192fc5680
21:45709541 AIRE C>T	21	45709541	45709541	C	T	AIRE				NC_000021.8:g.45709541C>T	(Likely) benign	1 lab	81946d4c3e
12:75897722 KRR1 C>T	12	75897722	75897722	C	T	KRR1	c.793G>A	NM_007043.7	NP_008974.5:p.(Glu265Lys)	NC_000012.11:g.75897722C>T	(Likely) benign	1 lab	8194affed6
11:121028738 TECTA CGA>C	11	121028738	121028740	CGA	C	TECTA	c.4495_4496del	NM_005422.4	NP_005413.2:p.(Asp1499ArgfsTer51)	NC_000011.9:g.121028739_121028740del	(Likely) pathogenic	1 lab	8195402fe8
16:84211483 TAF1C C>T	16	84211483	84211483	C	T	TAF1C	c.*1064G>A	NM_005679.4	NP_005670.4:p.?	NC_000016.9:g.84211483C>T	(Likely) benign	1 lab	fa42fccad5
17:59886070 BRIP1 T>C	17	59886070	59886070	T	C	BRIP1	c.676A>G	NM_032043.2	NP_114432.2:p.(Ser226Gly)	NC_000017.10:g.59886070T>C	(Likely) benign	1 lab	8198f5a272
X:153284713 IRAK1 G>A	X	153284713	153284713	G	A	IRAK1	c.371C>T	NM_001569.3	NP_001560.2:p.(Pro124Leu)	NC_000023.10:g.153284713G>A	(Likely) benign	1 lab	819b5c9771
13:77755956 MYCBP2 C>T	13	77755956	77755956	C	T	MYCBP2	c.4821G>A	NM_015057.4	NP_055872.4:p.(Pro1607=)	NC_000013.10:g.77755956C>T	(Likely) benign	1 lab	819c9d8f47
X:64749093 LAS1L G>A	X	64749093	64749093	G	A	LAS1L	c.845C>T	NM_031206.4	NP_112483.1:p.(Thr282Met)	NC_000023.10:g.64749093G>A	(Likely) benign	1 lab	819def4a46
16:9943735 GRIN2A A>G	16	9943735	9943735	A	G	GRIN2A	c.1206T>C	NM_001134407.3	NP_001127879.1:p.(Asp402=)	NC_000016.9:g.9943735A>G	(Likely) benign	1 lab	819f48c217
1:114438946 AP4B1 G>A	1	114438946	114438946	G	A	AP4B1	c.1444C>T	NM_006594.4	NP_006585.2:p.(Arg482Cys)	NC_000001.10:g.114438946G>A	VUS	1 lab	819fb0077d
16:1272769 TPSG1 T>G	16	1272769	1272769	T	G	TPSG1	c.394A>C	NM_012467.3	NP_036599.3:p.(Ser132Arg)	NC_000016.9:g.1272769T>G	(Likely) benign	1 lab	81a07e6aa9
4:123664658 BBS12 T>C	4	123664658	123664658	T	C	BBS12	c.1611T>C	NM_001178007.1	NP_001171478.1:p.(Leu537=)	NC_000004.11:g.123664658T>C	(Likely) benign	1 lab	81a184596d
20:61041473 GATA5 C>A	20	61041473	61041473	C	A	GATA5	c.825+9G>T	NM_080473.4	NP_536721.1:p.?	NC_000020.10:g.61041473C>A	(Likely) benign	1 lab	81a391f4cc
9:79898345 VPS13A A>G	9	79898345	79898345	A	G	VPS13A	c.3193A>G	NM_033305.2	NP_150648.2:p.(Ile1065Val)	NC_000009.11:g.79898345A>G	VUS	1 lab	81a54cafff
3:195789460 TFRC C>T	3	195789460	195789460	C	T	TFRC	c.1461G>A	NM_003234.3	NP_003225.2:p.(Ala487=)	NC_000003.11:g.195789460C>T	(Likely) benign	1 lab	81a65275b1
10:114903764 TCF7L2 G>T	10	114903764	114903764	G	T	TCF7L2	c.699G>T	NM_001198525.1	NP_001185454.1:p.(Pro233=)	NC_000010.10:g.114903764G>T	(Likely) benign	1 lab	81a6642c67
2:228563818 SLC19A3 T>C	2	228563818	228563818	T	C	SLC19A3	c.613A>G	NM_025243.3	NP_079519.1:p.(Arg205Gly)	NC_000002.11:g.228563818T>C	(Likely) benign	1 lab	81a67ce9d7
6:33145972 COL11A2 C>T	6	33145972	33145972	C	T	COL11A2	c.1819-10G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33145972C>T	(Likely) benign	1 lab	81a948094b
17:44143899 KANSL1 C>T	17	44143899	44143899	C	T	KANSL1	c.1848+4G>A	NM_001193466.2	NP_001180395.1:p.?	NC_000017.10:g.44143899C>T	(Likely) benign	1 lab	fa4318a82a
15:41689232 NDUFAF1 C>T	15	41689232	41689232	C	T	NDUFAF1	c.26G>A	NM_016013.4	NP_057097.2:p.(Arg9His)	NC_000015.9:g.41689232C>T	(Likely) benign	1 lab	fa44e1fa27
22:38120466 TRIOBP A>G	22	38120466	38120466	A	G	TRIOBP	c.1903A>G	NM_001039141.2	NP_001034230.1:p.(Arg635Gly)	NC_000022.10:g.38120466A>G	VUS	1 lab	81aec51c87
6:167343140 RNASET2 C>T	6	167343140	167343140	C	T	RNASET2				NC_000006.11:g.167343140C>T	(Likely) benign	1 lab	81af132af4
1:150525641 ADAMTSL4 A>G	1	150525641	150525641	A	G	ADAMTSL4	c.346A>G	NM_001288608.1	NP_001275537.1:p.(Thr116Ala)	NC_000001.10:g.150525641A>G	(Likely) benign	1 lab	81af6619f4
12:8757838 AICDA C>T	12	8757838	8757838	C	T	AICDA	c.400G>A	NM_020661.2	NP_065712.1:p.(Val134Met)	NC_000012.11:g.8757838C>T	VUS	1 lab	81b08d0e01
12:52865517 KRT6C C>G	12	52865517	52865517	C	G	KRT6C	c.756-1G>C	NM_173086.4	NP_775109.2:p.?	NC_000012.11:g.52865517C>G	VUS	1 lab	81b4caf394
X:19713740 SH3KBP1 T>G	X	19713740	19713740	T	G	SH3KBP1	c.510A>C	NM_001353891.1	NP_001340820.1:p.(Leu170=)	NC_000023.10:g.19713740T>G	(Likely) benign	1 lab	81b5451858
10:78651485 KCNMA1 A>G	10	78651485	78651485	A	G	KCNMA1	c.2986-8T>C	NM_001014797.2	NP_001014797.1:p.?	NC_000010.10:g.78651485A>G	(Likely) benign	1 lab	81b582202d
1:161641211 FCGR2B G>C	1	161641211	161641211	G	C	FCGR2B	c.163G>C	NM_004001.4	NP_003992.3:p.(Glu55Gln)	NC_000001.10:g.161641211G>C	(Likely) benign	1 lab	81b5cd4765
16:88497714 ZNF469 A>G	16	88497714	88497714	A	G	ZNF469				NC_000016.9:g.88497714A>G	(Likely) benign	1 lab	81b694ae19
4:70810661 CSN1S1 G>T	4	70810661	70810661	G	T	CSN1S1	c.496G>T	NM_001890.2	NP_001881.1:p.(Asp166Tyr)	NC_000004.11:g.70810661G>T	VUS	1 lab	81b84a77b4
3:123452859 MYLK C>T	3	123452859	123452859	C	T	MYLK	c.984G>A	NM_053025.3	NP_444253.3:p.(Ser328=)	NC_000003.11:g.123452859C>T	(Likely) benign	1 lab	81b87d889b
15:89862487 POLG G>A	15	89862487	89862487	G	A	POLG	c.3076C>T	NM_002693.2	NP_002684.1:p.(Arg1026Cys)	NC_000015.9:g.89862487G>A	VUS	1 lab	81ba2378b5
12:58021595 B4GALNT1 C>G	12	58021595	58021595	C	G	B4GALNT1	c.1190G>C	NM_001478.4	NP_001469.1:p.(Arg397Pro)	NC_000012.11:g.58021595C>G	VUS	1 lab	81bbce574d
2:172314941 DCAF17 T>C	2	172314941	172314941	T	C	DCAF17	c.792T>C	NM_025000.3	NP_079276.2:p.(Thr264=)	NC_000002.11:g.172314941T>C	(Likely) benign	1 lab	81bdb207ce
X:32360338 DMD T>A	X	32360338	32360338	T	A	DMD	c.5432A>T	NM_004010.3	NP_004001.1:p.(Glu1811Val)	NC_000023.10:g.32360338T>A	VUS	1 lab	81bdfee374
4:15597831 CC2D2A G>A	4	15597831	15597831	G	A	CC2D2A	c.4437+1G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15597831G>A	(Likely) pathogenic	1 lab	81bf6befc2
X:54978492 PFKFB1 C>T	X	54978492	54978492	C	T	PFKFB1	c.692G>A	NM_002625.3	NP_002616.2:p.(Arg231Gln)	NC_000023.10:g.54978492C>T	(Likely) benign	1 lab	81c1dae3bb
21:34804607 IFNGR2 T>C	21	34804607	34804607	T	C	IFNGR2	c.742T>C	NM_001329128.1	NP_001316057.1:p.(Leu248=)	NC_000021.8:g.34804607T>C	(Likely) benign	1 lab	81c294c3af
7:138602304 KIAA1549 T>C	7	138602304	138602304	T	C	KIAA1549	c.2068A>G	NM_001164665.1	NP_001158137.1:p.(Asn690Asp)	NC_000007.13:g.138602304T>C	VUS	1 lab	81c36876b2
X:73959244 NEXMIF A>G	X	73959244	73959244	A	G	NEXMIF	c.4547T>C	NM_001008537.2	NP_001008537.1:p.(Ile1516Thr)	NC_000023.10:g.73959244A>G	(Likely) benign	1 lab	81c414da0c
16:2133780 TSC2 C>T	16	2133780	2133780	C	T	TSC2	c.3968C>T	NM_000548.3	NP_000539.2:p.(Ala1323Val)	NC_000016.9:g.2133780C>T	(Likely) benign	1 lab	81c53f8aa2
7:21938944 DNAH11 C>G	7	21938944	21938944	C	G	DNAH11				NC_000007.13:g.21938944C>G	(Likely) benign	1 lab	81c8bf3f64
3:52486103 TNNC1 T>C	3	52486103	52486103	T	C	TNNC1	c.202+19A>G	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52486103T>C	(Likely) benign	1 lab	81c94621ce
6:129670446 LAMA2 C>A	6	129670446	129670446	C	A	LAMA2	c.4440C>A	NM_000426.3	NP_000417.2:p.(Phe1480Leu)	NC_000006.11:g.129670446C>A	VUS	1 lab	81cd5cfc1e
11:126391297 KIRREL3 T>G	11	126391297	126391297	T	G	KIRREL3	c.346A>C	NM_032531.4	NP_115920.1:p.(Arg116=)	NC_000011.9:g.126391297T>G	(Likely) benign	1 lab	fa56679735
16:71061688 HYDIN C>T	16	71061688	71061688	C	T	HYDIN	c.2859G>A	NM_001270974.2	NP_001257903.1:p.(Gln953=)	NC_000016.9:g.71061688C>T	(Likely) benign	1 lab	81cfbc39ca
5:178585769 ADAMTS2 C>T	5	178585769	178585769	C	T	ADAMTS2	c.1087G>A	NM_014244.4	NP_055059.2:p.(Ala363Thr)	NC_000005.9:g.178585769C>T	VUS	1 lab	81cfd5c293
9:138830172 UBAC1 G>A	9	138830172	138830172	G	A	UBAC1	c.998C>T	NM_016172.2	NP_057256.2:p.(Pro333Leu)	NC_000009.11:g.138830172G>A	VUS	1 lab	81d0748624
7:21847563 DNAH11 G>T	7	21847563	21847563	G	T	DNAH11				NC_000007.13:g.21847563G>T	VUS	1 lab	81d08d6bf2
3:197427676 RUBCN TGGA>T	3	197427676	197427683	TGGA	T	RUBCN	c.1066_1068del	NM_014687.4	NP_055502.1:p.(Ser359del)	NC_000003.11:g.197427681_197427683del	VUS	1 lab	81d91093a3
11:33731746 CD59 T>G	11	33731746	33731746	T	G	CD59	c.313A>C	NM_001127223.1	NP_001120695.1:p.(Thr105Pro)	NC_000011.9:g.33731746T>G	(Likely) benign	1 lab	81d9704de4
22:26866749 HPS4 G>A	22	26866749	26866749	G	A	HPS4	c.532C>T	NM_022081.5	NP_071364.4:p.(Arg178Cys)	NC_000022.10:g.26866749G>A	VUS	1 lab	81da87ee31
11:611663 PHRF1 C>T	11	611663	611663	C	T	PHRF1	c.4836C>T	NM_001286581.2	NP_001273510.1:p.(Asn1612=)	NC_000011.9:g.611663C>T	(Likely) benign	1 lab	81da88ee44
3:129183539 IFT122 A>G	3	129183539	129183539	A	G	IFT122	c.631A>G	NM_052985.3	NP_443711.2:p.(Asn211Asp)	NC_000003.11:g.129183539A>G	VUS	1 lab	81db0dc303
13:110830544 COL4A1 G>A	13	110830544	110830544	G	A	COL4A1	c.2493C>T	NM_001845.5	NP_001836.3:p.(Pro831=)	NC_000013.10:g.110830544G>A	(Likely) benign	1 lab	81db3c59a5
15:99478713 IGF1R T>C	15	99478713	99478713	T	C	IGF1R	c.3297+58T>C	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99478713T>C	(Likely) benign	1 lab	81db7a5886
17:18070953 MYO15A G>A	17	18070953	18070953	G	A	MYO15A	c.9998G>A	NM_016239.3	NP_057323.3:p.(Arg3333Gln)	NC_000017.10:g.18070953G>A	(Likely) benign	1 lab	81dce7cb40
9:5029893 JAK2 C>G	9	5029893	5029893	C	G	JAK2	c.337C>G	NM_001322194.1	NP_001309123.1:p.(Leu113Val)	NC_000009.11:g.5029893C>G	(Likely) benign	1 lab	81dde2a90b
5:37243145 CPLANE1 C>T	5	37243145	37243145	C	T	CPLANE1	c.647G>A	NM_023073.3	NP_075561.3:p.(Arg216Gln)	NC_000005.9:g.37243145C>T	VUS	1 lab	81de201f49
13:23909671 SACS C>T	13	23909671	23909671	C	T	SACS	c.8344G>A	NM_014363.5	NP_055178.3:p.(Ala2782Thr)	NC_000013.10:g.23909671C>T	(Likely) benign	1 lab	81e2d34c95
9:33464113 NOL6 T>C	9	33464113	33464113	T	C	NOL6	c.2826A>G	NM_022917.5	NP_075068.2:p.(Ala942=)	NC_000009.11:g.33464113T>C	(Likely) benign	1 lab	81e2eb0bf6
15:48903040 FBN1 G>C	15	48903040	48903040	G	C	FBN1	c.248-17C>G	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48903040G>C	(Likely) benign	1 lab	81e34944ab
8:32621844 NRG1 G>T	8	32621844	32621844	G	T	NRG1	c.1862G>T	NM_013956.4	NP_039250.2:p.(Gly621Val)	NC_000008.10:g.32621844G>T	(Likely) benign	1 lab	81e49cb91d
3:3186274 TRNT1 A>G	3	3186274	3186274	A	G	TRNT1	c.488A>G	NM_182916.3	NP_886552.3:p.(Asp163Gly)	NC_000003.11:g.3186274A>G	VUS	1 lab	b8be0288b3
12:56740649 STAT2 C>T	12	56740649	56740649	C	T	STAT2	c.1803G>A	NM_198332.1	NP_938146.1:p.(Ser601=)	NC_000012.11:g.56740649C>T	(Likely) benign	1 lab	81e5b96ae9
15:23889186 MAGEL2 G>A	15	23889186	23889186	G	A	MAGEL2	c.3704C>T	NM_019066.4	NP_061939.3:p.(Thr1235Ile)	NC_000015.9:g.23889186G>A	(Likely) benign	1 lab	81e6885a26
10:73472486 CDH23 G>C	10	73472486	73472486	G	C	CDH23	c.3285G>C	NM_022124.5	NP_071407.4:p.(Val1095=)	NC_000010.10:g.73472486G>C	(Likely) benign	1 lab	81e9c379f7
1:158645965 SPTA1 T>A	1	158645965	158645965	T	A	SPTA1	c.1078A>T	NM_003126.3	NP_003117.2:p.(Thr360Ser)	NC_000001.10:g.158645965T>A	(Likely) benign	1 lab	81e9da9fde
X:69639963 KIF4A C>T	X	69639963	69639963	C	T	KIF4A	c.3547C>T	NM_012310.4	NP_036442.3:p.(Pro1183Ser)	NC_000023.10:g.69639963C>T	(Likely) benign	1 lab	81ed8ec0e9
17:41244712 BRCA1 TAC>G	17	41244712	41244714	TAC	G	BRCA1	c.2834_2836delinsC	NM_007294.3	NP_009225.1:p.(Ser945ThrfsTer6)	NC_000017.10:g.41244712_41244714delinsG	(Likely) pathogenic	1 lab	81ee3c51c6
14:105860991 PACS2 C>G	14	105860991	105860991	C	G	PACS2	c.2697C>G	NM_001100913.3	NP_001094383.2:p.(His899Gln)	NC_000014.8:g.105860991C>G	VUS	1 lab	fa600007f7
14:105409227 AHNAK2 G>A	14	105409227	105409227	G	A	AHNAK2	c.12561C>T	NM_138420.3	NP_612429.2:p.(Ser4187=)	NC_000014.8:g.105409227G>A	(Likely) benign	1 lab	81ef4e96c6
9:135787842 TSC1 C>T	9	135787842	135787842	C	T	TSC1	c.740G>A	NM_000368.4	NP_000359.1:p.(Trp247Ter)	NC_000009.11:g.135787842C>T	(Likely) pathogenic	1 lab	81f14e7944
8:105160955 RIMS2 C>T	8	105160955	105160955	C	T	RIMS2	c.3987C>T	NM_001348484.1	NP_001335413.1:p.(Asp1329=)	NC_000008.10:g.105160955C>T	(Likely) benign	1 lab	81f63ebd55
15:57565320 TCF12 G>A	15	57565320	57565320	G	A	TCF12	c.1838G>A	NM_207037.1	NP_996920.1:p.(Arg613His)	NC_000015.9:g.57565320G>A	(Likely) pathogenic	1 lab	81f7e6c14e
15:34656469 LPCAT4 G>C	15	34656469	34656469	G	C	LPCAT4	c.517C>G	NM_153613.3	NP_705841.2:p.(His173Asp)	NC_000015.9:g.34656469G>C	VUS	1 lab	81f948c568
19:41352825 CYP2A6 A>G	19	41352825	41352825	A	G	CYP2A6	c.786T>C	NM_000762.5	NP_000753.3:p.(Asn262=)	NC_000019.9:g.41352825A>G	(Likely) benign	1 lab	81fa58ba15
1:169512013 F5 A>G	1	169512013	169512013	A	G	F5	c.2315T>C	NM_000130.4	NP_000121.2:p.(Ile772Thr)	NC_000001.10:g.169512013A>G	(Likely) benign	1 lab	81fb569392
16:4387127 GLIS2 G>A	16	4387127	4387127	G	A	GLIS2	c.1177G>A	NM_032575.2	NP_115964.2:p.(Gly393Arg)	NC_000016.9:g.4387127G>A	VUS	1 lab	81fc807d37
19:40376631 FCGBP G>A	19	40376631	40376631	G	A	FCGBP	c.11791C>T	NM_003890.2	NP_003881.2:p.(Pro3931Ser)	NC_000019.9:g.40376631G>A	VUS	1 lab	81fd56a7a9
12:40758667 LRRK2 A>G	12	40758667	40758667	A	G	LRRK2	c.7205A>G	NM_198578.3	NP_940980.3:p.(Lys2402Arg)	NC_000012.11:g.40758667A>G	(Likely) benign	1 lab	81fd618582
10:123325244 FGFR2 C>T	10	123325244	123325244	C	T	FGFR2	c.110-26G>A	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123325244C>T	(Likely) benign	1 lab	81fe5475df
X:132092499 HS6ST2 C>T	X	132092499	132092499	C	T	HS6ST2	c.132G>A	NM_001077188.1	NP_001070656.1:p.(Gly44=)	NC_000023.10:g.132092499C>T	(Likely) benign	1 lab	81ff2a6016
15:62199533 VPS13C G>T	15	62199533	62199533	G	T	VPS13C	c.9035C>A	NM_001018088.2	NP_001018098.1:p.(Ala3012Glu)	NC_000015.9:g.62199533G>T	(Likely) benign	1 lab	81ff958ac4
3:58083667 FLNB C>T	3	58083667	58083667	C	T	FLNB	c.1110C>T	NM_001164317.1	NP_001157789.1:p.(Ile370=)	NC_000003.11:g.58083667C>T	(Likely) benign	1 lab	820040f46d
9:34635829 SIGMAR1 CACCAGGCCCGTGTACT>C	9	34635829	34635848	CACCAGGCCCGTGTACT	C	SIGMAR1	c.456_471del	NM_005866.4	NP_005857.1:p.(Val153ArgfsTer104)	NC_000009.11:g.34635833_34635848del	(Likely) pathogenic	1 lab	820096727a
12:58121509 AGAP2 G>T	12	58121509	58121509	G	T	AGAP2	c.2812C>A	NM_001122772.2	NP_001116244.1:p.(Arg938=)	NC_000012.11:g.58121509G>T	(Likely) benign	1 lab	82019bc2c0
9:2039776 SMARCA2 A>G	9	2039776	2039776	A	G	SMARCA2	c.666A>G	NM_003070.4	NP_003061.3:p.(Gln222=)	NC_000009.11:g.2039776A>G	(Likely) benign	1 lab	820240208c
1:11854034 MTHFR T>C	1	11854034	11854034	T	C	MTHFR	c.1460A>G	NM_005957.4	NP_005948.3:p.(Asn487Ser)	NC_000001.10:g.11854034T>C	(Likely) benign	1 lab	8202a8d448
1:154573993 ADAR G>A	1	154573993	154573993	G	A	ADAR	c.240C>T	NM_001193495.2	NP_001180424.1:p.(Thr80=)	NC_000001.10:g.154573993G>A	(Likely) benign	1 lab	8202e58673
5:138730398 PROB1 C>T	5	138730398	138730398	C	T	PROB1	c.373G>A	NM_001161546.1	NP_001155018.1:p.(Gly125Ser)	NC_000005.9:g.138730398C>T	(Likely) benign	1 lab	8205599537
4:123664601 BBS12 G>A	4	123664601	123664601	G	A	BBS12	c.1554G>A	NM_001178007.1	NP_001171478.1:p.(Arg518=)	NC_000004.11:g.123664601G>A	(Likely) benign	1 lab	8206877816
17:32908146 TMEM132E A>T	17	32908146	32908146	A	T	TMEM132E	c.51A>T	NM_001304438.1	NP_001291367.1:p.(Ser17=)	NC_000017.10:g.32908146A>T	(Likely) benign	1 lab	8206c319de
6:56504826 DST T>G	6	56504826	56504826	T	G	DST	c.2421A>C	NM_001144769.2	NP_001138241.1:p.(Ser807=)	NC_000006.11:g.56504826T>G	(Likely) benign	1 lab	8207a3efb2
6:28227439 NKAPL A>G	6	28227439	28227439	A	G	NKAPL	c.290A>G	NM_001007531.2	NP_001007532.1:p.(His97Arg)	NC_000006.11:g.28227439A>G	(Likely) benign	1 lab	8207e2eabb
14:105416289 AHNAK2 G>T	14	105416289	105416289	G	T	AHNAK2	c.5499C>A	NM_138420.3	NP_612429.2:p.(Phe1833Leu)	NC_000014.8:g.105416289G>T	(Likely) benign	1 lab	820a901b42
5:13894822 DNAH5 C>T	5	13894822	13894822	C	T	DNAH5	c.2368G>A	NM_001369.2	NP_001360.1:p.(Ala790Thr)	NC_000005.9:g.13894822C>T	(Likely) benign	1 lab	820b0a2635
2:209190331 PIKFYVE G>A	2	209190331	209190331	G	A	PIKFYVE	c.2796G>A	NM_015040.3	NP_055855.2:p.(Leu932=)	NC_000002.11:g.209190331G>A	(Likely) benign	1 lab	820be5f978
6:138752561 NHSL1 G>A	6	138752561	138752561	G	A	NHSL1	c.2933C>T	NM_020464.1	NP_065197.1:p.(Pro978Leu)	NC_000006.11:g.138752561G>A	VUS	1 lab	82102fccad
4:15572039 CC2D2A A>G	4	15572039	15572039	A	G	CC2D2A	c.3514A>G	NM_001080522.2	NP_001073991.2:p.(Ser1172Gly)	NC_000004.11:g.15572039A>G	VUS	1 lab	8210ca9efa
12:56577992 SMARCC2 C>T	12	56577992	56577992	C	T	SMARCC2	c.529G>A	NM_001330288.2	NP_001317217.1:p.(Val177Ile)	NC_000012.11:g.56577992C>T	VUS	1 lab	8211d92835
X:54467146 TSR2 G>A	X	54467146	54467146	G	A	TSR2	c.105G>A	NM_058163.2	NP_477511.1:p.(Gly35=)	NC_000023.10:g.54467146G>A	(Likely) benign	1 lab	8213738096
21:37617399 DOP1B G>A	21	37617399	37617399	G	A	DOP1B	c.3121G>A	NM_005128.3	NP_005119.2:p.(Ala1041Thr)	NC_000021.8:g.37617399G>A	(Likely) benign	1 lab	8216012af4
1:1460614 ATAD3A T>C	1	1460614	1460614	T	C	ATAD3A	c.1359-6T>C	NM_018188.4	NP_060658.3:p.?	NC_000001.10:g.1460614T>C	(Likely) benign	1 lab	8217d02fcc
6:31929043 SKIC2 T>A	6	31929043	31929043	T	A	SKIC2	c.669T>A	NM_006929.4	NP_008860.4:p.(Gly223=)	NC_000006.11:g.31929043T>A	(Likely) benign	1 lab	821af44fa4
X:47045676 RBM10 C>T	X	47045676	47045676	C	T	RBM10	c.2752C>T	NM_001204468.1	NP_001191397.1:p.(Arg918Trp)	NC_000023.10:g.47045676C>T	VUS	1 lab	821d7bde70
16:49856586 ZNF423 T>G	16	49856586	49856586	T	G	ZNF423	c.11A>C	NM_015069.4	NP_055884.2:p.(Lys4Thr)	NC_000016.9:g.49856586T>G	VUS	1 lab	821dadde8c
2:96933170 CIAO1 C>G	2	96933170	96933170	C	G	CIAO1	c.251C>G	NM_004804.2	NP_004795.1:p.(Thr84Ser)	NC_000002.11:g.96933170C>G	VUS	1 lab	821de9f6fe
1:230845861 AGT C>T	1	230845861	230845861	C	T	AGT	c.736G>A	NM_000029.3	NP_000020.1:p.(Val246Ile)	NC_000001.10:g.230845861C>T	(Likely) benign	1 lab	821fc306bd
6:10770395 MAK G>A	6	10770395	10770395	G	A	MAK	c.1741C>T	NM_001242957.2	NP_001229886.1:p.(Gln581Ter)	NC_000006.11:g.10770395G>A	(Likely) pathogenic	1 lab	821fcd7534
3:164712165 SI G>C	3	164712165	164712165	G	C	SI	c.4721C>G	NM_001041.3	NP_001032.2:p.(Thr1574Ser)	NC_000003.11:g.164712165G>C	(Likely) benign	1 lab	8220f10aad
16:15802652 MYH11 C>T	16	15802652	15802652	C	T	MYH11	c.*8+8G>A	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15802652C>T	VUS	1 lab	8220fb4da7
22:26860708 HPS4 G>A	22	26860708	26860708	G	A	HPS4	c.888C>T	NM_001349898.1	NP_001336827.1:p.(Asn296=)	NC_000022.10:g.26860708G>A	(Likely) benign	1 lab	822229b1f0
16:2140477 PKD1 G>A	16	2140477	2140477	G	A	PKD1	c.12253C>T	NM_001009944.2	NP_001009944.2:p.(Leu4085=)	NC_000016.9:g.2140477G>A	(Likely) benign	1 lab	822355a0b9
11:46727274 ZNF408 A>G	11	46727274	46727274	A	G	ZNF408	c.2024A>G	NM_024741.2	NP_079017.1:p.(Glu675Gly)	NC_000011.9:g.46727274A>G	VUS	1 lab	8223d78d80
14:88411935 GALC A>G	14	88411935	88411935	A	G	GALC	c.1632T>C	NM_000153.3	NP_000144.2:p.(Asp544=)	NC_000014.8:g.88411935A>G	(Likely) benign	1 lab	822822d725
9:97873570 FANCC G>A	9	97873570	97873570	G	A	FANCC	c.1387C>T	NM_001243744.1	NP_001230673.1:p.(Arg463Cys)	NC_000009.11:g.97873570G>A	(Likely) benign	1 lab	822859a4bf
2:71653924 ZNF638 T>A	2	71653924	71653924	T	A	ZNF638	c.4925T>A	NM_001252612.1	NP_001239541.1:p.(Leu1642His)	NC_000002.11:g.71653924T>A	VUS	1 lab	822b052d91
17:79892901 PYCR1 C>T	17	79892901	79892901	C	T	PYCR1	c.441G>A	NM_006907.3	NP_008838.2:p.(Arg147=)	NC_000017.10:g.79892901C>T	(Likely) benign	1 lab	822b215c29
14:78021684 SPTLC2 T>C	14	78021684	78021684	T	C	SPTLC2	c.1135A>G	NM_004863.3	NP_004854.1:p.(Lys379Glu)	NC_000014.8:g.78021684T>C	VUS	1 lab	822bab548e
18:56940299 RAX A>T	18	56940299	56940299	A	T	RAX	c.140T>A	NM_013435.2	NP_038463.2:p.(Ile47Asn)	NC_000018.9:g.56940299A>T	VUS	1 lab	822ed92e34
16:19566892 MISSING C>T	16	19566892	19566892	C	T	MISSING				NC_000016.9:g.19566892C>T	(Likely) benign	1 lab	82315be92a
8:144995415 PLEC C>T	8	144995415	144995415	C	T	PLEC	c.8985G>A	NM_201380.3	NP_958782.1:p.(Thr2995=)	NC_000008.10:g.144995415C>T	(Likely) benign	1 lab	8232a89bec
14:23886537 MYH7 G>A	14	23886537	23886537	G	A	MYH7	c.4354-10C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886537G>A	(Likely) benign	1 lab	8235f6967e
X:66941695 AR G>A	X	66941695	66941695	G	A	AR	c.743G>A	NM_001011645.3	NP_001011645.1:p.(Arg248Gln)	NC_000023.10:g.66941695G>A	VUS	1 lab	8236b4bf44
X:48822564 KCND1 C>T	X	48822564	48822564	C	T	KCND1	c.1616G>A	NM_004979.5	NP_004970.3:p.(Arg539His)	NC_000023.10:g.48822564C>T	VUS	1 lab	823968594d
2:238249210 COL6A3 T>C	2	238249210	238249210	T	C	COL6A3	c.8349A>G	NM_004369.3	NP_004360.2:p.(Val2783=)	NC_000002.11:g.238249210T>C	(Likely) benign	1 lab	823ae64b67
3:195800802 TFRC T>C	3	195800802	195800802	T	C	TFRC	c.433A>G	NM_003234.3	NP_003225.2:p.(Lys145Glu)	NC_000003.11:g.195800802T>C	VUS	1 lab	823bbc77c3
19:48637292 LIG1 C>A	19	48637292	48637292	C	A	LIG1	c.1552G>T	NM_001320970.1	NP_001307899.1:p.(Val518Leu)	NC_000019.9:g.48637292C>A	(Likely) benign	1 lab	823c113bce
1:2337219 PEX10 G>A	1	2337219	2337219	G	A	PEX10	c.1027C>T	NM_153818.1	NP_722540.1:p.(Arg343Trp)	NC_000001.10:g.2337219G>A	VUS	1 lab	823c6debde
X:10176189 CLCN4 C>T	X	10176189	10176189	C	T	CLCN4	c.948C>T	NM_001830.3	NP_001821.2:p.(Leu316=)	NC_000023.10:g.10176189C>T	(Likely) benign	1 lab	823c73e13b
1:156128184 SEMA4A G>C	1	156128184	156128184	G	C	SEMA4A	c.369G>C	NM_022367.4	NP_071762.2:p.(Gln123His)	NC_000001.10:g.156128184G>C	VUS	1 lab	823cc7db7a
7:150884634 ASB10 A>G	7	150884634	150884634	A	G	ASB10	c.176T>C	NM_080871.3	NP_543147.2:p.(Leu59Pro)	NC_000007.13:g.150884634A>G	VUS	1 lab	823cd7cde5
X:49198754 GAGE8 A>T	X	49198754	49198754	A	T	GAGE8	c.36A>T	NM_012196.1	NP_036328.1:p.(Arg12Ser)	NC_000023.10:g.49198754A>T	(Likely) benign	1 lab	823d290c54
15:51809357 DMXL2 A>G	15	51809357	51809357	A	G	DMXL2	c.2444T>C	NM_001174116.3	NP_001167587.1:p.(Ile815Thr)	NC_000015.9:g.51809357A>G	VUS	1 lab	fa67cdc942
2:179439490 TTN C>T	2	179439490	179439490	C	T	TTN	c.71369G>A	NM_001267550.1	NP_001254479.1:p.(Arg23790His)	NC_000002.11:g.179439490C>T	(Likely) benign	1 lab	82415ddff6
15:43814661 MAP1A C>T	15	43814661	43814661	C	T	MAP1A	c.990C>T	NM_002373.6	NP_002364.5:p.(Ala330=)	NC_000015.9:g.43814661C>T	(Likely) benign	1 lab	824212e8f6
2:179462359 TTN G>A	2	179462359	179462359	G	A	TTN	c.57450C>T	NM_001267550.1	NP_001254479.1:p.(Ile19150=)	NC_000002.11:g.179462359G>A	(Likely) benign	1 lab	8245aac1df
12:58124614 AGAP2 G>A	12	58124614	58124614	G	A	AGAP2	c.2268C>T	NM_001122772.2	NP_001116244.1:p.(Leu756=)	NC_000012.11:g.58124614G>A	(Likely) benign	1 lab	8245df8d9b
10:73122015 SLC29A3 C>T	10	73122015	73122015	C	T	SLC29A3	c.1078C>T	NM_018344.6	NP_060814.4:p.(Leu360=)	NC_000010.10:g.73122015C>T	(Likely) benign	1 lab	8246c2bdbe
1:27087971 ARID1A G>C	1	27087971	27087971	G	C	ARID1A	c.2251+7G>C	NM_006015.4	NP_006006.3:p.?	NC_000001.10:g.27087971G>C	(Likely) benign	1 lab	8256546909
21:46929369 COL18A1 C>T	21	46929369	46929369	C	T	COL18A1	c.3349C>T	NM_001379500.1	NP_001366429.1:p.(Arg1117Trp)	NC_000021.8:g.46929369C>T	VUS	1 lab	fa6acc362d
14:64892766 MTHFD1 C>T	14	64892766	64892766	C	T	MTHFD1	c.983C>T	NM_005956.4	NP_005947.3:p.(Pro328Leu)	NC_000014.8:g.64892766C>T	VUS	1 lab	824739c98e
2:170003398 LRP2 T>C	2	170003398	170003398	T	C	LRP2	c.12662A>G	NM_004525.3	NP_004516.2:p.(Asn4221Ser)	NC_000002.11:g.170003398T>C	(Likely) benign	1 lab	82489ece18
4:71024530 PRR27 G>C	4	71024530	71024530	G	C	PRR27	c.561G>C	NM_214711.3	NP_999876.2:p.(Glu187Asp)	NC_000004.11:g.71024530G>C	(Likely) benign	1 lab	824b05358a
18:56202696 ALPK2 G>T	18	56202696	56202696	G	T	ALPK2	c.4723C>A	NM_052947.4	NP_443179.3:p.(Pro1575Thr)	NC_000018.9:g.56202696G>T	VUS	1 lab	824c30b8bf
5:172659695 NKX2-5 G>C	5	172659695	172659695	G	C	NKX2-5	c.852C>G	NM_004387.3	NP_004378.1:p.(Ala284=)	NC_000005.9:g.172659695G>C	(Likely) benign	1 lab	824cdb06f6
X:24732707 POLA1 A>G	X	24732707	24732707	A	G	POLA1	c.383A>G	NM_001330360.1	NP_001317289.1:p.(Asn128Ser)	NC_000023.10:g.24732707A>G	(Likely) benign	1 lab	824fc9e975
1:220325008 RAB3GAP2 T>C	1	220325008	220325008	T	C	RAB3GAP2	c.3966A>G	NM_012414.3	NP_036546.2:p.(Lys1322=)	NC_000001.10:g.220325008T>C	(Likely) benign	1 lab	824fdf3e11
1:165325587 LMX1A C>T	1	165325587	165325587	C	T	LMX1A	c.-23+5G>A	NM_177398.4	NP_796372.1:p.?	NC_000001.10:g.165325587C>T	VUS	1 lab	82500ff6e5
13:48877852 RB1 G>T	13	48877852	48877852	G	T	RB1				NC_000013.10:g.48877852G>T	(Likely) pathogenic	1 lab	fa7295791a
10:27031454 PDSS1 G>A	10	27031454	27031454	G	A	PDSS1	c.545G>A	NM_001321979.1	NP_001308908.1:p.(Arg182Gln)	NC_000010.10:g.27031454G>A	VUS	1 lab	825309b95c
11:71817218 LRTOMT G>C	11	71817218	71817218	G	C	LRTOMT	c.320G>C	NM_001145309.3	NP_001138781.1:p.(Ser107Thr)	NC_000011.9:g.71817218G>C	VUS	1 lab	8253b37452
12:31238946 DDX11 A>G	12	31238946	31238946	A	G	DDX11	c.638+886A>G	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31238946A>G	(Likely) benign	1 lab	fa754264ed
16:23647528 PALB2 T>G	16	23647528	23647528	T	G	PALB2	c.339A>C	NM_024675.4	NP_078951.2:p.(Pro113=)	NC_000016.9:g.23647528T>G	(Likely) benign	1 lab	fa77596325
8:73921253 TERF1 G>A	8	73921253	73921253	G	A	TERF1	c.132G>A	NM_017489.2	NP_059523.2:p.(Leu44=)	NC_000008.10:g.73921253G>A	(Likely) benign	1 lab	82579873a5
10:100195130 HPS1 G>A	10	100195130	100195130	G	A	HPS1	c.297C>T	NM_000195.5	NP_000186.2:p.(Thr99=)	NC_000010.10:g.100195130G>A	(Likely) benign	1 lab	fa7c5601a2
2:1457549 TPO G>A	2	1457549	1457549	G	A	TPO	c.566G>A	NM_000547.5	NP_000538.3:p.(Arg189Gln)	NC_000002.11:g.1457549G>A	VUS	1 lab	8259870d02
16:88788376 PIEZO1 G>A	16	88788376	88788376	G	A	PIEZO1	c.5054C>T	NM_001142864.4	NP_001136336.2:p.(Ala1685Val)	NC_000016.9:g.88788376G>A	VUS	1 lab	8259877d16
18:31322996 ASXL3 C>T	18	31322996	31322996	C	T	ASXL3	c.3184C>T	NM_030632.2	NP_085135.1:p.(Gln1062Ter)	NC_000018.9:g.31322996C>T	(Likely) pathogenic	1 lab	8259a4aecf
17:42428169 GRN G>A	17	42428169	42428169	G	A	GRN	c.708+1G>A	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428169G>A	(Likely) pathogenic	1 lab	825adc2345
1:161172233 NDUFS2 C>G	1	161172233	161172233	C	G	NDUFS2	c.58C>G	NM_001166159.1	NP_001159631.1:p.(Pro20Ala)	NC_000001.10:g.161172233C>G	(Likely) benign	1 lab	825bb081e4
17:62078448 PRR29 A>C	17	62078448	62078448	A	C	PRR29	c.248A>C	NM_001164257.1	NP_001157729.1:p.(Tyr83Ser)	NC_000017.10:g.62078448A>C	(Likely) benign	1 lab	825bd3ea27
X:153689669 PLXNA3 C>T	X	153689669	153689669	C	T	PLXNA3	c.825C>T	NM_017514.4	NP_059984.3:p.(Tyr275=)	NC_000023.10:g.153689669C>T	(Likely) benign	1 lab	825c51c221
8:133899479 TG C>T	8	133899479	133899479	C	T	TG	c.1862C>T	NM_003235.4	NP_003226.4:p.(Thr621Met)	NC_000008.10:g.133899479C>T	VUS	1 lab	825d30d079
15:43895553 STRC T>G	15	43895553	43895553	T	G	STRC	c.4432A>C	NM_153700.2	NP_714544.1:p.(Thr1478Pro)	NC_000015.9:g.43895553T>G	VUS	1 lab	825dac3a81
22:36702092 MYH9 G>A	22	36702092	36702092	G	A	MYH9	c.2043C>T	NM_002473.5	NP_002464.1:p.(Gly681=)	NC_000022.10:g.36702092G>A	VUS	1 lab	825fa235c6
20:13782131 NDUFAF5 G>C	20	13782131	13782131	G	C	NDUFAF5	c.520-1G>C	NM_024120.4	NP_077025.2:p.?	NC_000020.10:g.13782131G>C	VUS	1 lab	825fa4242c
7:100732149 TRIM56 G>A	7	100732149	100732149	G	A	TRIM56	c.1556G>A	NM_030961.3	NP_112223.1:p.(Arg519Gln)	NC_000007.13:g.100732149G>A	(Likely) benign	1 lab	82601263ca
1:116670844 MAB21L3 G>T	1	116670844	116670844	G	T	MAB21L3	c.739G>T	NM_152367.2	NP_689580.2:p.(Glu247Ter)	NC_000001.10:g.116670844G>T	VUS	1 lab	82618e659f
2:179436091 TTN TCCCTGGA>T	2	179436091	179436098	TCCCTGGA	T	TTN	c.74761_74767del	NM_001267550.2	NP_001254479.2:p.(Ser24921ThrfsTer23)	NC_000002.11:g.179436092_179436098del	(Likely) pathogenic	1 lab	8261b2bc0a
2:98828476 VWA3B T>C	2	98828476	98828476	T	C	VWA3B	c.1821T>C	NM_144992.4	NP_659429.4:p.(Asp607=)	NC_000002.11:g.98828476T>C	(Likely) benign	1 lab	826231b5c1
X:71521649 CITED1 C>T	X	71521649	71521649	C	T	CITED1	c.506G>A	NM_004143.3	NP_004134.2:p.(Arg169Gln)	NC_000023.10:g.71521649C>T	(Likely) benign	1 lab	8263b8088d
7:45726197 ADCY1 C>G	7	45726197	45726197	C	G	ADCY1	c.2379C>G	NM_021116.3	NP_066939.1:p.(Leu793=)	NC_000007.13:g.45726197C>G	(Likely) benign	1 lab	82650ce6bb
8:61654501 CHD7 G>A	8	61654501	61654501	G	A	CHD7				NC_000008.10:g.61654501G>A	(Likely) benign	1 lab	826967333a
11:93530817 MED17 A>G	11	93530817	93530817	A	G	MED17	c.1260A>G	NM_004268.4	NP_004259.3:p.(Ser420=)	NC_000011.9:g.93530817A>G	(Likely) benign	1 lab	826a1d3853
15:99482585 IGF1R C>T	15	99482585	99482585	C	T	IGF1R	c.3453C>T	NM_000875.5	NP_000866.1:p.(Ile1151=)	NC_000015.9:g.99482585C>T	(Likely) benign	1 lab	fa7dd5ed58
6:73001755 RIMS1 C>T	6	73001755	73001755	C	T	RIMS1	c.3850+6C>T	NM_014989.5	NP_055804.2:p.?	NC_000006.11:g.73001755C>T	(Likely) benign	1 lab	82712760dc
X:150869300 PRRG3 G>A	X	150869300	150869300	G	A	PRRG3	c.491G>A	NM_024082.3	NP_076987.3:p.(Gly164Glu)	NC_000023.10:g.150869300G>A	(Likely) benign	1 lab	8271bc4b53
17:74473876 RHBDF2 G>A	17	74473876	74473876	G	A	RHBDF2	c.760-9C>T	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74473876G>A	(Likely) benign	1 lab	827471ce06
17:64881291 CACNG5 G>A	17	64881291	64881291	G	A	CACNG5	c.762G>A	NM_145811.2	NP_665810.1:p.(Met254Ile)	NC_000017.10:g.64881291G>A	(Likely) benign	1 lab	82763ec08d
6:33406659 SYNGAP1 T>C	6	33406659	33406659	T	C	SYNGAP1	c.1639T>C	NM_006772.2	NP_006763.2:p.(Cys547Arg)	NC_000006.11:g.33406659T>C	VUS	1 lab	82768f7f73
21:38309272 HLCS G>A	21	38309272	38309272	G	A	HLCS	c.473C>T	NM_001242784.2	NP_001229713.1:p.(Thr158Met)	NC_000021.8:g.38309272G>A	(Likely) benign	1 lab	8276abcc81
6:56818618 DST C>T	6	56818618	56818618	C	T	DST	c.182-1G>A	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56818618C>T	VUS	1 lab	8278b41f49
19:50155408 SCAF1 C>A	19	50155408	50155408	C	A	SCAF1	c.1762C>A	NM_021228.3	NP_067051.2:p.(Arg588Ser)	NC_000019.9:g.50155408C>A	(Likely) benign	1 lab	8279193850
1:203025590 PPFIA4 C>T	1	203025590	203025590	C	T	PPFIA4	c.2194C>T	NM_001304331.1	NP_001291260.1:p.(Leu732=)	NC_000001.10:g.203025590C>T	(Likely) benign	1 lab	827b39e6ba
9:36170682 CCIN C>T	9	36170682	36170682	C	T	CCIN	c.1183C>T	NM_005893.2	NP_005884.2:p.(Arg395Cys)	NC_000009.11:g.36170682C>T	VUS	1 lab	827c16882d
11:1269575 MUC5B C>A	11	1269575	1269575	C	A	MUC5B	c.11465C>A	NM_002458.2	NP_002449.2:p.(Ala3822Asp)	NC_000011.9:g.1269575C>A	(Likely) benign	1 lab	827cd13292
7:44579171 NPC1L1 G>A	7	44579171	44579171	G	A	NPC1L1	c.825C>T	NM_013389.2	NP_037521.2:p.(Thr275=)	NC_000007.13:g.44579171G>A	(Likely) benign	1 lab	827d045fc7
2:47690260 MSH2 C>T	2	47690260	47690260	C	T	MSH2	c.1477C>T	NM_000251.2	NP_000242.1:p.(Gln493Ter)	NC_000002.11:g.47690260C>T	(Likely) pathogenic	1 lab	827d0a6b3e
5:80021366 MSH3 G>T	5	80021366	80021366	G	T	MSH3	c.1435G>T	NM_002439.4	NP_002430.3:p.(Asp479Tyr)	NC_000005.9:g.80021366G>T	VUS	1 lab	827d80cf99
2:169830286 ABCB11 C>T	2	169830286	169830286	C	T	ABCB11	c.1373G>A	NM_003742.4	NP_003733.2:p.(Gly458Glu)	NC_000002.11:g.169830286C>T	(Likely) pathogenic	1 lab	fa830a026d
4:15004556 CPEB2 C>T	4	15004556	15004556	C	T	CPEB2	c.259C>T	NM_001177382.1	NP_001170853.1:p.(Leu87=)	NC_000004.11:g.15004556C>T	(Likely) benign	1 lab	827f3814e7
15:48527104 SLC12A1 G>A	15	48527104	48527104	G	A	SLC12A1	c.1118G>A	NM_000338.3	NP_000329.2:p.(Arg373His)	NC_000015.9:g.48527104G>A	(Likely) benign	1 lab	fa83e363e8
12:80655849 OTOGL C>T	12	80655849	80655849	C	T	OTOGL	c.1963C>T	NM_173591.3	NP_775862.3:p.(Pro655Ser)	NC_000012.11:g.80655849C>T	VUS	1 lab	8280aafb36
X:154736756 TMLHE A>G	X	154736756	154736756	A	G	TMLHE	c.798T>C	NM_018196.3	NP_060666.1:p.(Gly266=)	NC_000023.10:g.154736756A>G	(Likely) benign	1 lab	8281b7542b
8:48706895 PRKDC G>A	8	48706895	48706895	G	A	PRKDC	c.10626C>T	NM_006904.6	NP_008835.5:p.(Phe3542=)	NC_000008.10:g.48706895G>A	(Likely) benign	1 lab	8281f32a32
19:8145980 FBN3 G>T	19	8145980	8145980	G	T	FBN3	c.7360C>A	NM_032447.5	NP_115823.3:p.(Gln2454Lys)	NC_000019.9:g.8145980G>T	(Likely) benign	1 lab	82821c9e40
15:43552404 TGM5 G>C	15	43552404	43552404	G	C	TGM5	c.282C>G	NM_201631.3	NP_963925.2:p.(Thr94=)	NC_000015.9:g.43552404G>C	(Likely) benign	1 lab	82828e4c30
17:10213025 MYH13 GT>G	17	10213025	10213028	GT	G	MYH13	c.4778del	NM_003802.3	NP_003793.2:p.(Asn1593ThrfsTer24)	NC_000017.10:g.10213028del	VUS	1 lab	828321e7f7
1:12382005 VPS13D T>A	1	12382005	12382005	T	A	VPS13D	c.7688T>A	NM_015378.4	NP_056193.2:p.(Phe2563Tyr)	NC_000001.10:g.12382005T>A	VUS	1 lab	82835998e0
7:92120774 PEX1 T>C	7	92120774	92120774	T	C	PEX1	c.2626A>G	NM_001282678.1	NP_001269607.1:p.(Met876Val)	NC_000007.13:g.92120774T>C	VUS	1 lab	8283620a42
3:131221573 MRPL3 C>T	3	131221573	131221573	C	T	MRPL3	c.92+1G>A	NM_007208.3	NP_009139.1:p.?	NC_000003.11:g.131221573C>T	(Likely) pathogenic	1 lab	8284bd3e86
1:220355661 RAB3GAP2 T>G	1	220355661	220355661	T	G	RAB3GAP2	c.2248A>C	NM_012414.3	NP_036546.2:p.(Ser750Arg)	NC_000001.10:g.220355661T>G	VUS	1 lab	8285790052
2:179483057 TTN G>A	2	179483057	179483057	G	A	TTN	c.47128C>T	NM_001267550.1	NP_001254479.1:p.(Arg15710Cys)	NC_000002.11:g.179483057G>A	VUS	1 lab	82859dbdf4
16:88501942 ZNF469 C>T	16	88501942	88501942	C	T	ZNF469				NC_000016.9:g.88501942C>T	(Likely) benign	1 lab	828720acf8
17:42334822 SLC4A1 C>T	17	42334822	42334822	C	T	SLC4A1	c.1522G>A	NM_000342.3	NP_000333.1:p.(Glu508Lys)	NC_000017.10:g.42334822C>T	VUS	1 lab	8288eb148d
X:49083553 CACNA1F G>A	X	49083553	49083553	G	A	CACNA1F	c.1155C>T	NM_005183.3	NP_005174.2:p.(Arg385=)	NC_000023.10:g.49083553G>A	(Likely) benign	1 lab	828be5d647
3:142178144 ATR C>T	3	142178144	142178144	C	T	ATR	c.7274G>A	NM_001184.3	NP_001175.2:p.(Arg2425Gln)	NC_000003.11:g.142178144C>T	(Likely) benign	1 lab	828d055a2f
18:19429293 MIB1 TCT>C	18	19429293	19429295	TCT	C	MIB1	c.2530_2532delinsC	NM_020774.3	NP_065825.1:p.(Ser844ProfsTer10)	NC_000018.9:g.19429293_19429295delinsC	(Likely) pathogenic	1 lab	828e786396
4:103556204 MANBA T>C	4	103556204	103556204	T	C	MANBA	c.2158-2A>G	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103556204T>C	(Likely) pathogenic	1 lab	82905d4368
X:74273239 ABCB7 T>C	X	74273239	74273239	T	C	ABCB7	c.2228A>G	NM_004299.6	NP_004290.2:p.(Asn743Ser)	NC_000023.10:g.74273239T>C	VUS	1 lab	8290a90e04
17:61901457 FTSJ3 C>T	17	61901457	61901457	C	T	FTSJ3	c.1141G>A	NM_017647.4	NP_060117.3:p.(Ala381Thr)	NC_000017.10:g.61901457C>T	VUS	1 lab	82915306e0
1:201031145 CACNA1S C>T	1	201031145	201031145	C	T	CACNA1S	c.2980G>A	NM_000069.2	NP_000060.2:p.(Asp994Asn)	NC_000001.10:g.201031145C>T	(Likely) benign	1 lab	829274cc35
1:68897004 RPE65 A>G	1	68897004	68897004	A	G	RPE65	c.1299T>C	NM_000329.2	NP_000320.1:p.(Tyr433=)	NC_000001.10:g.68897004A>G	(Likely) benign	1 lab	829392c8ee
21:47703705 MCM3AP T>C	21	47703705	47703705	T	C	MCM3AP	c.1267A>G	NM_003906.4	NP_003897.2:p.(Thr423Ala)	NC_000021.8:g.47703705T>C	(Likely) benign	1 lab	8296ab084b
1:151400628 POGZ T>C	1	151400628	151400628	T	C	POGZ	c.830A>G	NM_015100.3	NP_055915.2:p.(Gln277Arg)	NC_000001.10:g.151400628T>C	VUS	1 lab	82975efb6d
20:47604825 ARFGEF2 G>A	20	47604825	47604825	G	A	ARFGEF2	c.2277-16G>A	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47604825G>A	(Likely) benign	1 lab	8297fc3c09
5:149449467 CSF1R A>C	5	149449467	149449467	A	C	CSF1R	c.1479T>G	NM_005211.3	NP_005202.2:p.(Ser493Arg)	NC_000005.9:g.149449467A>C	VUS	1 lab	82984e4902
X:47078053 CDK16 T>C	X	47078053	47078053	T	C	CDK16	c.2T>C	NM_033018.3	NP_148978.2:p.(Met1?)	NC_000023.10:g.47078053T>C	VUS	1 lab	8299f4b245
3:49137655 QARS1 G>A	3	49137655	49137655	G	A	QARS1	c.1132C>T	NM_005051.2	NP_005042.1:p.(Arg378Cys)	NC_000003.11:g.49137655G>A	VUS	1 lab	829b04fff6
5:92929434 NR2F1 G>T	5	92929434	92929434	G	T	NR2F1	c.1158G>T	NM_005654.6	NP_005645.1:p.(Glu386Asp)	NC_000005.9:g.92929434G>T	VUS	1 lab	fa868d762d
17:29657417 NF1 ACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAG>A	17	29657417	29657455	ACCCTCTTTATTGTCTCTATTAGTAAGACACTGGCAG	A	NF1	c.5716_5751del	NM_001042492.3	NP_001035957.1:p.(Leu1906_Ala1917del)	NC_000017.10:g.29657420_29657455del	VUS	1 lab	829de7615c
16:4386835 GLIS2 C>G	16	4386835	4386835	C	G	GLIS2	c.885C>G	NM_001318918.1	NP_001305847.1:p.(Cys295Trp)	NC_000016.9:g.4386835C>G	VUS	1 lab	829e2f2a9a
10:105165742 PDCD11 C>A	10	105165742	105165742	C	A	PDCD11	c.565C>A	NM_014976.2	NP_055791.1:p.(Leu189Ile)	NC_000010.10:g.105165742C>A	VUS	1 lab	82a19fe3ad
9:140953645 CACNA1B C>T	9	140953645	140953645	C	T	CACNA1B	c.4584+4C>T	NM_000718.3	NP_000709.1:p.?	NC_000009.11:g.140953645C>T	(Likely) benign	1 lab	82a26ec2b8
1:42922908 PPCS C>T	1	42922908	42922908	C	T	PPCS	c.509-10C>T	NM_024664.4	NP_078940.2:p.?	NC_000001.10:g.42922908C>T	(Likely) benign	1 lab	82a3375290
4:15839712 CD38 A>T	4	15839712	15839712	A	T	CD38	c.586-3A>T	NM_001775.4	NP_001766.2:p.?	NC_000004.11:g.15839712A>T	(Likely) benign	1 lab	82a3672ea2
5:2748986 IRX2 G>A	5	2748986	2748986	G	A	IRX2	c.836C>T	NM_033267.5	NP_150366.1:p.(Pro279Leu)	NC_000005.9:g.2748986G>A	VUS	1 lab	82a3a5810b
X:124453991 TEX13C A>G	X	124453991	124453991	A	G	TEX13C	c.23A>G	NM_001195272.2	NP_001182201.1:p.(His8Arg)	NC_000023.10:g.124453991A>G	(Likely) benign	1 lab	82a5d16277
19:35757837 LSR C>G	19	35757837	35757837	C	G	LSR	c.1255C>G	NM_205834.3	NP_991403.1:p.(Arg419Gly)	NC_000019.9:g.35757837C>G	VUS	1 lab	82a692257c
11:78523323 TENM4 T>G	11	78523323	78523323	T	G	TENM4	c.1822A>C	NM_001098816.2	NP_001092286.2:p.(Met608Leu)	NC_000011.9:g.78523323T>G	(Likely) benign	1 lab	82a77af8a3
11:12316358 MICAL2 T>TCCTCCC	11	12316358	12316364	T	TCCTCCC	MICAL2	c.1385_1386insCCCTCC	NM_032867.3	NP_116256.2:p.(Pro469_Pro470dup)	NC_000011.9:g.12316363_12316364insCCCTCC	(Likely) benign	1 lab	82a92b0094
2:119750707 MARCO CTCAGTGTCCG>C	2	119750707	119750721	CTCAGTGTCCG	C	MARCO	c.1265_1274del	NM_006770.4	NP_006761.1:p.(Val422GlyfsTer121)	NC_000002.11:g.119750712_119750721del	VUS	1 lab	82a9613ab0
16:2122982 TSC2 CAGGT>C	16	2122982	2122989	CAGGT	C	TSC2	c.2355+2_2355+5del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2122986_2122989del	(Likely) pathogenic	1 lab	82a993bdec
20:10621731 JAG1 T>G	20	10621731	10621731	T	G	JAG1	c.3048+30A>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621731T>G	(Likely) benign	1 lab	82aa7d4c2b
19:19612004 GATAD2A C>T	19	19612004	19612004	C	T	GATAD2A	c.1282C>T	NM_001300946.2	NP_001287875.1:p.(Arg428Cys)	NC_000019.9:g.19612004C>T	VUS	1 lab	82acdab0a7
11:117265195 CEP164 C>A	11	117265195	117265195	C	A	CEP164	c.2746C>A	NM_014956.4	NP_055771.4:p.(Arg916=)	NC_000011.9:g.117265195C>A	(Likely) benign	1 lab	82aeabe544
17:29528129 NF1 C>T	17	29528129	29528129	C	T	NF1	c.1137C>T	NM_000267.3	NP_000258.1:p.(Cys379=)	NC_000017.10:g.29528129C>T	(Likely) benign	1 lab	82aed8241f
16:2133781 TSC2 G>A	16	2133781	2133781	G	A	TSC2	c.3969G>A	NM_000548.3	NP_000539.2:p.(Ala1323=)	NC_000016.9:g.2133781G>A	(Likely) benign	1 lab	82af1d88db
19:1391040 NDUFS7 G>A	19	1391040	1391040	G	A	NDUFS7	c.399G>A	NM_024407.5	NP_077718.3:p.(Ala133=)	NC_000019.9:g.1391040G>A	(Likely) benign	1 lab	fa879c00e0
11:2193005 TH G>A	11	2193005	2193005	G	A	TH	c.12C>T	NM_199292.2	NP_954986.2:p.(Pro4=)	NC_000011.9:g.2193005G>A	(Likely) benign	1 lab	82b18998ef
4:9784517 DRD5 CAAG>C	4	9784517	9784523	CAAG	C	DRD5	c.868_870del	NM_000798.5	NP_000789.1:p.(Lys290del)	NC_000004.11:g.9784521_9784523del	VUS	1 lab	82b18a0b59
X:135430498 ADGRG4 C>G	X	135430498	135430498	C	G	ADGRG4	c.4633C>G	NM_153834.3	NP_722576.3:p.(Pro1545Ala)	NC_000023.10:g.135430498C>G	(Likely) benign	1 lab	82b1da2dfa
6:102250204 GRIK2 A>G	6	102250204	102250204	A	G	GRIK2	c.1096-2A>G	NM_001166247.1	NP_001159719.1:p.?	NC_000006.11:g.102250204A>G	VUS	1 lab	82b3857ddb
17:29684130 NF1 G>A	17	29684130	29684130	G	A	NF1	c.7806+22G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684130G>A	(Likely) benign	1 lab	82b5d16c06
10:16957935 CUBN C>T	10	16957935	16957935	C	T	CUBN	c.7095G>A	NM_001081.3	NP_001072.2:p.(Trp2365Ter)	NC_000010.10:g.16957935C>T	(Likely) pathogenic	1 lab	82b5e876c2
10:79745739 POLR3A C>T	10	79745739	79745739	C	T	POLR3A	c.2993G>A	NM_007055.3	NP_008986.2:p.(Arg998His)	NC_000010.10:g.79745739C>T	(Likely) benign	1 lab	82b60c5322
9:136293869 ADAMTS13 C>A	9	136293869	136293869	C	A	ADAMTS13	c.802C>A	NM_139025.4	NP_620594.1:p.(Arg268=)	NC_000009.11:g.136293869C>A	(Likely) benign	1 lab	82b63e9fbd
22:38512074 PLA2G6 G>C	22	38512074	38512074	G	C	PLA2G6	c.1879+8C>G	NM_003560.2	NP_003551.2:p.?	NC_000022.10:g.38512074G>C	(Likely) benign	1 lab	82b68a6c3a
11:66555707 TOP6BL G>A	11	66555707	66555707	G	A	TOP6BL	c.600G>A	NM_024650.3	NP_078926.3:p.(Met200Ile)	NC_000011.9:g.66555707G>A	(Likely) benign	1 lab	82b88d7e41
X:101858254 ARMCX5 A>G	X	101858254	101858254	A	G	ARMCX5	c.1185A>G	NM_001168479.1	NP_001161951.1:p.(Gln395=)	NC_000023.10:g.101858254A>G	VUS	1 lab	82bbbd123c
5:149277953 PDE6A A>T	5	149277953	149277953	A	T	PDE6A	c.1380T>A	NM_000440.2	NP_000431.2:p.(Cys460Ter)	NC_000005.9:g.149277953A>T	(Likely) pathogenic	1 lab	82bc0b0d6e
12:49424467 KMT2D T>A	12	49424467	49424467	T	A	KMT2D	c.13756A>T	NM_003482.3	NP_003473.3:p.(Asn4586Tyr)	NC_000012.11:g.49424467T>A	VUS	1 lab	82bc2480cd
1:32694749 EIF3I G>A	1	32694749	32694749	G	A	EIF3I	c.743G>A	NM_003757.3	NP_003748.1:p.(Gly248Asp)	NC_000001.10:g.32694749G>A	VUS	1 lab	82bd5160b7
17:8792029 PIK3R5 A>G	17	8792029	8792029	A	G	PIK3R5	c.1075T>C	NM_014308.3	NP_055123.2:p.(Leu359=)	NC_000017.10:g.8792029A>G	(Likely) benign	1 lab	82bea51e0d
5:37176036 CPLANE1 C>A	5	37176036	37176036	C	A	CPLANE1	c.5953G>T	NM_023073.3	NP_075561.3:p.(Val1985Leu)	NC_000005.9:g.37176036C>A	VUS	1 lab	82bf1f693c
4:103534663 NFKB1 G>A	4	103534663	103534663	G	A	NFKB1	c.2671G>A	NM_001165412.1	NP_001158884.1:p.(Ala891Thr)	NC_000004.11:g.103534663G>A	VUS	1 lab	82bfe20d19
10:55721531 PCDH15 T>C	10	55721531	55721531	T	C	PCDH15				NC_000010.10:g.55721531T>C	VUS	1 lab	8353f3a6a2
17:72939417 OTOP3 C>T	17	72939417	72939417	C	T	OTOP3	c.610C>T	NM_001272005.1	NP_001258934.1:p.(Arg204Trp)	NC_000017.10:g.72939417C>T	VUS	1 lab	82c0719936
10:73572583 CDH23 C>T	10	73572583	73572583	C	T	CDH23	c.9569C>T	NM_022124.5	NP_071407.4:p.(Ala3190Val)	NC_000010.10:g.73572583C>T	(Likely) pathogenic	1 lab	82c1d8ad52
9:71650816 FXN C>T	9	71650816	71650816	C	T	FXN	c.118C>T	NM_181425.2	NP_852090.1:p.(Arg40Cys)	NC_000009.11:g.71650816C>T	VUS	1 lab	82c2dda2c8
14:99737549 BCL11B G>T	14	99737549	99737549	G	T	BCL11B	c.7C>A	NM_138576.3	NP_612808.1:p.(Arg3Ser)	NC_000014.8:g.99737549G>T	VUS	1 lab	82c43bdf3d
5:102894648 NUDT12 C>T	5	102894648	102894648	C	T	NUDT12	c.728G>A	NM_031438.4	NP_113626.1:p.(Arg243Lys)	NC_000005.9:g.102894648C>T	VUS	1 lab	82c5423158
6:35477089 TULP1 C>T	6	35477089	35477089	C	T	TULP1	c.719G>A	NM_003322.5	NP_003313.3:p.(Gly240Asp)	NC_000006.11:g.35477089C>T	VUS	1 lab	82c5f5f34c
9:137658308 COL5A1 G>A	9	137658308	137658308	G	A	COL5A1	c.2097G>A	NM_000093.4	NP_000084.3:p.(Thr699=)	NC_000009.11:g.137658308G>A	(Likely) benign	1 lab	82c898244a
18:8824849 MTCL1 A>C	18	8824849	8824849	A	C	MTCL1	c.3341A>C	NM_015210.3	NP_056025.2:p.(Lys1114Thr)	NC_000018.9:g.8824849A>C	(Likely) benign	1 lab	82cdb2a431
1:98015280 DPYD T>C	1	98015280	98015280	T	C	DPYD	c.1360A>G	NM_000110.3	NP_000101.2:p.(Ile454Val)	NC_000001.10:g.98015280T>C	(Likely) benign	1 lab	82cdca16d7
21:47632969 LSS G>A	21	47632969	47632969	G	A	LSS	c.1110-3C>T	NM_002340.6	NP_002331.3:p.?	NC_000021.8:g.47632969G>A	(Likely) benign	1 lab	82cec4b671
9:842051 DMRT1 G>A	9	842051	842051	G	A	DMRT1	c.213G>A	NM_021951.2	NP_068770.2:p.(Pro71=)	NC_000009.11:g.842051G>A	(Likely) benign	1 lab	82cf4cfea2
3:123167263 ADCY5 G>A	3	123167263	123167263	G	A	ADCY5	c.130C>T	NM_183357.2	NP_899200.1:p.(His44Tyr)	NC_000003.11:g.123167263G>A	(Likely) benign	1 lab	82d272d0a4
X:153172178 AVPR2 C>T	X	153172178	153172178	C	T	AVPR2	c.1112C>T	NM_000054.5	NP_000045.1:p.(Ser371Leu)	NC_000023.10:g.153172178C>T	(Likely) benign	1 lab	82d2f0852d
1:94461675 ABCA4 C>T	1	94461675	94461675	C	T	ABCA4	c.6806G>A	NM_000350.2	NP_000341.2:p.(Arg2269Gln)	NC_000001.10:g.94461675C>T	VUS	1 lab	82d2f925a7
X:63569932 MTMR8 G>A	X	63569932	63569932	G	A	MTMR8	c.487C>T	NM_017677.3	NP_060147.2:p.(Pro163Ser)	NC_000023.10:g.63569932G>A	(Likely) benign	1 lab	82d3a0acc9
17:80828104 TBCD C>T	17	80828104	80828104	C	T	TBCD	c.1323C>T	NM_005993.4	NP_005984.3:p.(Val441=)	NC_000017.10:g.80828104C>T	(Likely) benign	1 lab	82d58d5a80
1:220101589 SLC30A10 G>A	1	220101589	220101589	G	A	SLC30A10	c.194C>T	NM_018713.2	NP_061183.2:p.(Thr65Ile)	NC_000001.10:g.220101589G>A	(Likely) benign	1 lab	82d625fe25
10:26243811 MYO3A C>T	10	26243811	26243811	C	T	MYO3A	c.177C>T	NM_017433.5	NP_059129.3:p.(Asp59=)	NC_000010.10:g.26243811C>T	(Likely) benign	1 lab	82d690bc9b
7:11676113 THSD7A C>T	7	11676113	11676113	C	T	THSD7A	c.666G>A	NM_015204.2	NP_056019.1:p.(Val222=)	NC_000007.13:g.11676113C>T	(Likely) benign	1 lab	82d7397b5d
9:139400004 NOTCH1 C>T	9	139400004	139400004	C	T	NOTCH1	c.4344G>A	NM_017617.5	NP_060087.3:p.(Ala1448=)	NC_000009.11:g.139400004C>T	(Likely) benign	1 lab	82db443efc
12:58021513 B4GALNT1 G>A	12	58021513	58021513	G	A	B4GALNT1	c.1272C>T	NM_001478.4	NP_001469.1:p.(Val424=)	NC_000012.11:g.58021513G>A	(Likely) benign	1 lab	82dc647496
22:50659299 TUBGCP6 G>A	22	50659299	50659299	G	A	TUBGCP6	c.3489C>T	NM_020461.3	NP_065194.2:p.(His1163=)	NC_000022.10:g.50659299G>A	(Likely) benign	1 lab	82dd877b26
15:75684659 SIN3A TTC>T	15	75684659	75684669	TTC	T	SIN3A	c.2773_2774del	NM_001145358.2	NP_001138830.1:p.(Glu925MetfsTer14)	NC_000015.9:g.75684668_75684669del	(Likely) pathogenic	1 lab	fa910a186a
19:46268964 SIX5 C>T	19	46268964	46268964	C	T	SIX5	c.2015G>A	NM_175875.4	NP_787071.2:p.(Ser672Asn)	NC_000019.9:g.46268964C>T	VUS	1 lab	82e336786f
3:169555273 LRRIQ4 G>T	3	169555273	169555273	G	T	LRRIQ4	c.1537G>T	NM_001080460.2	NP_001073929.1:p.(Ala513Ser)	NC_000003.11:g.169555273G>T	(Likely) benign	1 lab	82e459761a
X:11682470 ARHGAP6 C>A	X	11682470	11682470	C	A	ARHGAP6	c.479G>T	NM_013427.2	NP_038286.2:p.(Gly160Val)	NC_000023.10:g.11682470C>A	(Likely) benign	1 lab	82e482239e
8:49833790 SNAI2 T>C	8	49833790	49833790	T	C	SNAI2	c.35A>G	NM_003068.5	NP_003059.1:p.(Asn12Ser)	NC_000008.10:g.49833790T>C	VUS	1 lab	82e5d858aa
12:10584743 KLRC2 A>G	12	10584743	10584743	A	G	KLRC2	c.546T>C	NM_002260.3	NP_002251.2:p.(His182=)	NC_000012.11:g.10584743A>G	(Likely) benign	1 lab	82ec561a11
1:110607389 ALX3 C>T	1	110607389	110607389	C	T	ALX3	c.414G>A	NM_006492.3	NP_006483.2:p.(Pro138=)	NC_000001.10:g.110607389C>T	(Likely) benign	1 lab	82ee1feab4
X:15838356 ZRSR2 C>T	X	15838356	15838356	C	T	ZRSR2	c.854C>T	NM_005089.3	NP_005080.1:p.(Ser285Phe)	NC_000023.10:g.15838356C>T	VUS	1 lab	82f028b265
10:105990602 CFAP43 C>A	10	105990602	105990602	C	A	CFAP43	c.66-1G>T	NM_025145.6	NP_079421.5:p.?	NC_000010.10:g.105990602C>A	(Likely) pathogenic	1 lab	82f0f271a4
2:179510740 TTN C>A	2	179510740	179510740	C	A	TTN	c.40315G>T	NM_001267550.1	NP_001254479.1:p.(Val13439Phe)	NC_000002.11:g.179510740C>A	VUS	1 lab	82f2c9789b
19:54626922 PRPF31 C>T	19	54626922	54626922	C	T	PRPF31	c.510C>T	NM_015629.3	NP_056444.3:p.(Thr170=)	NC_000019.9:g.54626922C>T	(Likely) benign	1 lab	82f5784c33
20:44681737 SLC12A5 T>C	20	44681737	44681737	T	C	SLC12A5	c.2519T>C	NM_020708.4	NP_065759.1:p.(Leu840Pro)	NC_000020.10:g.44681737T>C	VUS	1 lab	82f5e07001
15:62204099 VPS13C G>A	15	62204099	62204099	G	A	VPS13C	c.8655C>T	NM_001018088.2	NP_001018098.1:p.(Gly2885=)	NC_000015.9:g.62204099G>A	(Likely) benign	1 lab	82f6cbe2e0
8:10480492 RP1L1 G>C	8	10480492	10480492	G	C	RP1L1	c.220C>G	NM_178857.5	NP_849188.4:p.(Leu74Val)	NC_000008.10:g.10480492G>C	VUS	1 lab	82f7a19a48
1:150049171 VPS45 G>T	1	150049171	150049171	G	T	VPS45	c.331-1G>T	NM_001279354.1	NP_001266283.1:p.?	NC_000001.10:g.150049171G>T	VUS	1 lab	82fa0112bd
17:39923842 JUP T>G	17	39923842	39923842	T	G	JUP	c.708-10A>C	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39923842T>G	(Likely) benign	1 lab	82fa5841e2
17:8132146 CTC1 C>T	17	8132146	8132146	C	T	CTC1	c.3286G>A	NM_025099.6	NP_079375.3:p.(Ala1096Thr)	NC_000017.10:g.8132146C>T	(Likely) benign	1 lab	82fc0bab4c
16:74750437 FA2H C>T	16	74750437	74750437	C	T	FA2H	c.847G>A	NM_024306.4	NP_077282.3:p.(Val283Ile)	NC_000016.9:g.74750437C>T	(Likely) benign	1 lab	830190b281
7:35280474 TBX20 G>A	7	35280474	35280474	G	A	TBX20	c.813+17C>T	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35280474G>A	(Likely) benign	1 lab	8302117038
10:72358120 PRF1 C>T	10	72358120	72358120	C	T	PRF1	c.1357G>A	NM_001083116.1	NP_001076585.1:p.(Val453Met)	NC_000010.10:g.72358120C>T	VUS	1 lab	8302472e04
X:119005963 NDUFA1 C>G	X	119005963	119005963	C	G	NDUFA1	c.89C>G	NM_004541.3	NP_004532.1:p.(Thr30Ser)	NC_000023.10:g.119005963C>G	(Likely) benign	1 lab	83047880a8
17:29490341 NF1 ATT>A	17	29490341	29490345	ATT	A	NF1	c.429_430del	NM_001042492.3	NP_001035957.1:p.(Leu145GlnfsTer10)	NC_000017.10:g.29490344_29490345del	(Likely) pathogenic	1 lab	8304c63b02
2:166802155 TTC21B C>T	2	166802155	166802155	C	T	TTC21B	c.308G>A	NM_024753.4	NP_079029.3:p.(Arg103His)	NC_000002.11:g.166802155C>T	VUS	1 lab	830c4d4119
21:40762774 GET1 A>T	21	40762774	40762774	A	T	GET1	c.151A>T	NM_001350296.1	NP_001337225.1:p.(Lys51Ter)	NC_000021.8:g.40762774A>T	VUS	1 lab	830c68aeec
X:70347302 MED12 T>C	X	70347302	70347302	T	C	MED12	c.2966T>C	NM_005120.2	NP_005111.2:p.(Phe989Ser)	NC_000023.10:g.70347302T>C	VUS	1 lab	830cd230b9
22:19950040 COMT C>T	22	19950040	19950040	C	T	COMT	c.1-10C>T	NM_000754.3	NP_000745.1:p.?	NC_000022.10:g.19950040C>T	(Likely) benign	1 lab	830d08e3ad
7:42006060 GLI3 AG>A	7	42006060	42006061	AG	A	GLI3	c.2610del	NM_000168.6	NP_000159.3:p.(Phe871SerfsTer19)	NC_000007.13:g.42006061del	(Likely) pathogenic	1 lab	8310aff629
19:23544840 ZNF91 C>A	19	23544840	23544840	C	A	ZNF91	c.941G>T	NM_003430.4	NP_003421.2:p.(Arg314Ile)	NC_000019.9:g.23544840C>A	(Likely) benign	1 lab	831311a93b
14:21878056 CHD8 C>T	14	21878056	21878056	C	T	CHD8	c.2318G>A	NM_001170629.1	NP_001164100.1:p.(Arg773Gln)	NC_000014.8:g.21878056C>T	VUS	1 lab	8313719002
7:82580813 PCLO T>C	7	82580813	82580813	T	C	PCLO	c.9098-7A>G	NM_033026.5	NP_149015.2:p.?	NC_000007.13:g.82580813T>C	(Likely) benign	1 lab	831440f508
16:2120523 TSC2 C>T	16	2120523	2120523	C	T	TSC2	c.1783C>T	NM_000548.3	NP_000539.2:p.(Gln595Ter)	NC_000016.9:g.2120523C>T	(Likely) pathogenic	1 lab	8314b6e638
17:80051619 FASN T>C	17	80051619	80051619	T	C	FASN	c.309A>G	NM_004104.5	NP_004095.4:p.(Thr103=)	NC_000017.10:g.80051619T>C	(Likely) benign	1 lab	83150c3694
10:89653841 PTEN A>G	10	89653841	89653841	A	G	PTEN	c.139A>G	NM_000314.8	NP_000305.3:p.(Arg47Gly)	NC_000010.10:g.89653841A>G	VUS	1 lab	fa992636b9
2:68729976 APLF C>T	2	68729976	68729976	C	T	APLF	c.282C>T	NM_173545.3	NP_775816.1:p.(Asp94=)	NC_000002.11:g.68729976C>T	(Likely) benign	1 lab	8316f50dc8
2:198358044 HSPD1 T>C	2	198358044	198358044	T	C	HSPD1	c.869+4A>G	NM_199440.1	NP_955472.1:p.?	NC_000002.11:g.198358044T>C	VUS	1 lab	831815c0d1
12:49415908 KMT2D T>A	12	49415908	49415908	T	A	KMT2D	c.16439A>T	NM_003482.3	NP_003473.3:p.(Asn5480Ile)	NC_000012.11:g.49415908T>A	(Likely) pathogenic	1 lab	83193fc89c
9:139400291 NOTCH1 C>T	9	139400291	139400291	C	T	NOTCH1	c.4057G>A	NM_017617.5	NP_060087.3:p.(Gly1353Ser)	NC_000009.11:g.139400291C>T	VUS	1 lab	831a34184f
2:164466603 FIGN G>A	2	164466603	164466603	G	A	FIGN	c.1739C>T	NM_018086.4	NP_060556.2:p.(Ser580Leu)	NC_000002.11:g.164466603G>A	VUS	1 lab	fa9ac14f55
6:90718324 BACH2 C>T	6	90718324	90718324	C	T	BACH2	c.240G>A	NM_021813.4	NP_068585.1:p.(Glu80=)	NC_000006.11:g.90718324C>T	(Likely) benign	1 lab	831c278423
1:17323630 ATP13A2 C>G	1	17323630	17323630	C	G	ATP13A2	c.1065G>C	NM_001141973.2	NP_001135445.1:p.(Gly355=)	NC_000001.10:g.17323630C>G	(Likely) benign	1 lab	831df8d44b
14:105683992 BRF1 G>C	14	105683992	105683992	G	C	BRF1	c.1661C>G	NM_001519.4	NP_001510.2:p.(Pro554Arg)	NC_000014.8:g.105683992G>C	(Likely) benign	1 lab	831eb712aa
19:41129525 LTBP4 G>A	19	41129525	41129525	G	A	LTBP4	c.3774G>A	NM_001042544.1	NP_001036009.1:p.(Gln1258=)	NC_000019.9:g.41129525G>A	(Likely) benign	1 lab	831f0a36af
17:61565990 ACE G>C	17	61565990	61565990	G	C	ACE	c.2306-19G>C	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61565990G>C	(Likely) benign	1 lab	fa9f185005
X:67273643 OPHN1 T>C	X	67273643	67273643	T	C	OPHN1	c.2168A>G	NM_002547.2	NP_002538.1:p.(Asp723Gly)	NC_000023.10:g.67273643T>C	(Likely) benign	1 lab	8322516e11
2:73613071 ALMS1 A>G	2	73613071	73613071	A	G	ALMS1	c.78A>G	NM_015120.4	NP_055935.4:p.(Glu26=)	NC_000002.11:g.73613071A>G	(Likely) benign	1 lab	8322a8c7e4
19:8660729 ADAMTS10 T>C	19	8660729	8660729	T	C	ADAMTS10	c.1396A>G	NM_030957.3	NP_112219.3:p.(Thr466Ala)	NC_000019.9:g.8660729T>C	VUS	1 lab	8323cdba97
5:93807170 KIAA0825 C>T	5	93807170	93807170	C	T	KIAA0825	c.1721+1G>A	NM_001145678.3	NP_001139150.1:p.?	NC_000005.9:g.93807170C>T	(Likely) pathogenic	1 lab	fa9f658860
X:8768120 FAM9A A>G	X	8768120	8768120	A	G	FAM9A	c.91+2T>C	NM_001171186.1	NP_001164657.1:p.?	NC_000023.10:g.8768120A>G	VUS	1 lab	83254488e7
14:65263323 SPTB G>A	14	65263323	65263323	G	A	SPTB	c.1293C>T	NM_001024858.3	NP_001020029.1:p.(Ala431=)	NC_000014.8:g.65263323G>A	(Likely) benign	1 lab	8325febb18
2:179431586 TTN T>A	2	179431586	179431586	T	A	TTN	c.79273A>T	NM_001267550.1	NP_001254479.1:p.(Lys26425Ter)	NC_000002.11:g.179431586T>A	(Likely) pathogenic	1 lab	8326266803
3:49041570 P4HTM G>A	3	49041570	49041570	G	A	P4HTM	c.764G>A	NM_177938.2	NP_808807.2:p.(Arg255Gln)	NC_000003.11:g.49041570G>A	VUS	1 lab	fa9fdec193
16:88504916 ZNF469 T>A	16	88504916	88504916	T	A	ZNF469				NC_000016.9:g.88504916T>A	VUS	1 lab	832733ff41
2:179490080 TTN C>G	2	179490080	179490080	C	G	TTN	c.44468G>C	NM_001267550.2	NP_001254479.2:p.(Arg14823Thr)	NC_000002.11:g.179490080C>G	VUS	1 lab	faa048de66
16:70934922 HYDIN C>T	16	70934922	70934922	C	T	HYDIN	c.9033G>A	NM_001270974.2	NP_001257903.1:p.(Lys3011=)	NC_000016.9:g.70934922C>T	(Likely) benign	1 lab	832acb13c7
6:152725365 SYNE1 T>G	6	152725365	152725365	T	G	SYNE1	c.6808A>C	NM_182961.3	NP_892006.3:p.(Thr2270Pro)	NC_000006.11:g.152725365T>G	(Likely) benign	1 lab	832c675f9b
13:32954257 BRCA2 TGTC>T	13	32954257	32954262	TGTC	T	BRCA2	c.9234_9236del	NM_000059.4	NP_000050.3:p.(Val3079del)	NC_000013.10:g.32954260_32954262del	(Likely) pathogenic	1 lab	832d6424a2
19:17122274 MISSING C>A	19	17122274	17122274	C	A	MISSING				NC_000019.9:g.17122274C>A	(Likely) benign	1 lab	832de7ba0f
X:144903986 SLITRK2 G>A	X	144903986	144903986	G	A	SLITRK2	c.43G>A	NM_032539.4	NP_115928.1:p.(Gly15Arg)	NC_000023.10:g.144903986G>A	VUS	1 lab	832eded5da
2:55040516 EML6 C>T	2	55040516	55040516	C	T	EML6	c.345C>T	NM_001039753.2	NP_001034842.2:p.(Asp115=)	NC_000002.11:g.55040516C>T	(Likely) benign	1 lab	832f2e109e
16:4715131 MGRN1 G>C	16	4715131	4715131	G	C	MGRN1	c.657G>C	NM_001142290.2	NP_001135762.1:p.(Val219=)	NC_000016.9:g.4715131G>C	(Likely) benign	1 lab	833078c8b4
X:15415605 PIR A>G	X	15415605	15415605	A	G	PIR	c.659T>C	NM_003662.3	NP_003653.1:p.(Leu220Pro)	NC_000023.10:g.15415605A>G	VUS	1 lab	83308845ad
9:13136771 MPDZ T>C	9	13136771	13136771	T	C	MPDZ	c.4232A>G	NM_003829.4	NP_003820.2:p.(His1411Arg)	NC_000009.11:g.13136771T>C	VUS	1 lab	83316162ae
10:73571272 CDH23 CGAT>C	10	73571272	73571275	CGAT	C	CDH23	c.9204_9206del	NM_022124.6	NP_071407.4:p.(Ile3070del)	NC_000010.10:g.73571273_73571275del	VUS	1 lab	8331693d2e
1:150325405 PRPF3 C>T	1	150325405	150325405	C	T	PRPF3	c.2002C>T	NM_004698.3	NP_004689.1:p.(His668Tyr)	NC_000001.10:g.150325405C>T	VUS	1 lab	833227088c
9:43920314 MISSING C>T	9	43920314	43920314	C	T	MISSING				NC_000009.11:g.43920314C>T	(Likely) benign	1 lab	8333725d20
11:9166628 DENND5A C>T	11	9166628	9166628	C	T	DENND5A	c.2748G>A	NM_001348750.1	NP_001335679.1:p.(Gln916=)	NC_000011.9:g.9166628C>T	(Likely) benign	1 lab	83343d61a0
2:179482993 TTN C>T	2	179482993	179482993	C	T	TTN	c.47192G>A	NM_001267550.1	NP_001254479.1:p.(Arg15731His)	NC_000002.11:g.179482993C>T	VUS	1 lab	8335024c22
1:25648415 RHD C>A	1	25648415	25648415	C	A	RHD	c.1189C>A	NM_016124.4	NP_057208.2:p.(His397Asn)	NC_000001.10:g.25648415C>A	(Likely) benign	1 lab	8335bca209
2:163163208 IFIH1 G>GT	2	163163208	163163211	G	GT	IFIH1	c.769+10dup	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163163211dup	(Likely) benign	1 lab	8338d71510
X:54473804 FGD1 C>T	X	54473804	54473804	C	T	FGD1	c.2520G>A	NM_004463.2	NP_004454.2:p.(Lys840=)	NC_000023.10:g.54473804C>T	(Likely) benign	1 lab	833917ae97
8:2806866 CSMD1 C>G	8	2806866	2806866	C	G	CSMD1	c.10357G>C	NM_033225.6	NP_150094.5:p.(Asp3453His)	NC_000008.10:g.2806866C>G	(Likely) benign	1 lab	833c74abee
16:88804039 PIEZO1 C>T	16	88804039	88804039	C	T	PIEZO1	c.1123G>A	NM_001142864.4	NP_001136336.2:p.(Ala375Thr)	NC_000016.9:g.88804039C>T	(Likely) benign	1 lab	833cc47852
X:69353908 IGBP1 A>G	X	69353908	69353908	A	G	IGBP1	c.111A>G	NM_001551.2	NP_001542.1:p.(Ile37Met)	NC_000023.10:g.69353908A>G	(Likely) benign	1 lab	833fedd572
16:88504043 ZNF469 G>A	16	88504043	88504043	G	A	ZNF469				NC_000016.9:g.88504043G>A	(Likely) benign	1 lab	83408abf15
X:79937984 BRWD3 T>C	X	79937984	79937984	T	C	BRWD3	c.4377A>G	NM_153252.4	NP_694984.4:p.(Leu1459=)	NC_000023.10:g.79937984T>C	(Likely) benign	1 lab	8341b9a664
3:195506350 MUC4 G>T	3	195506350	195506350	G	T	MUC4	c.12101C>A	NM_018406.6	NP_060876.5:p.(Pro4034His)	NC_000003.11:g.195506350G>T	VUS	1 lab	8342fde9a6
X:108684631 GUCY2F T>C	X	108684631	108684631	T	C	GUCY2F	c.1650A>G	NM_001522.2	NP_001513.2:p.(Ser550=)	NC_000023.10:g.108684631T>C	(Likely) benign	1 lab	83436a797b
12:23887678 SOX5 T>C	12	23887678	23887678	T	C	SOX5	c.711A>G	NM_152989.4	NP_694534.1:p.(Arg237=)	NC_000012.11:g.23887678T>C	(Likely) benign	1 lab	834385fe07
X:69263813 AWAT2 C>T	X	69263813	69263813	C	T	AWAT2	c.230G>A	NM_001002254.1	NP_001002254.1:p.(Arg77His)	NC_000023.10:g.69263813C>T	(Likely) benign	1 lab	8343db4119
17:57093093 TRIM37 G>A	17	57093093	57093093	G	A	TRIM37	c.2454C>T	NM_015294.6	NP_056109.1:p.(Ile818=)	NC_000017.10:g.57093093G>A	(Likely) benign	1 lab	83458fd260
X:7268107 STS C>T	X	7268107	7268107	C	T	STS	c.1578C>T	NM_001320750.1	NP_001307679.1:p.(Ser526=)	NC_000023.10:g.7268107C>T	(Likely) benign	1 lab	83466aa5e6
18:50961517 DCC G>A	18	50961517	50961517	G	A	DCC	c.3167G>A	NM_005215.3	NP_005206.2:p.(Arg1056His)	NC_000018.9:g.50961517G>A	VUS	1 lab	83469f720a
3:53880645 IL17RB G>A	3	53880645	53880645	G	A	IL17RB	c.30G>A	NM_018725.4	NP_061195.2:p.(Ala10=)	NC_000003.11:g.53880645G>A	(Likely) benign	1 lab	8348ee0297
9:123215872 CDK5RAP2 G>C	9	123215872	123215872	G	C	CDK5RAP2	c.2655C>G	NM_018249.5	NP_060719.4:p.(Phe885Leu)	NC_000009.11:g.123215872G>C	(Likely) benign	1 lab	8349c5acd9
10:101578655 ABCC2 C>T	10	101578655	101578655	C	T	ABCC2	c.2380C>T	NM_000392.5	NP_000383.2:p.(His794Tyr)	NC_000010.10:g.101578655C>T	VUS	1 lab	834a12a19a
9:140442028 PNPLA7 G>C	9	140442028	140442028	G	C	PNPLA7	c.105+9C>G	NM_001098537.3	NP_001092007.2:p.?	NC_000009.11:g.140442028G>C	(Likely) benign	1 lab	834b00f3c5
X:35820464 MAGEB16 A>G	X	35820464	35820464	A	G	MAGEB16	c.151A>G	NM_001099921.1	NP_001093391.1:p.(Lys51Glu)	NC_000023.10:g.35820464A>G	(Likely) benign	1 lab	834becb53c
15:100821543 ADAMTS17 C>T	15	100821543	100821543	C	T	ADAMTS17	c.680G>A	NM_139057.3	NP_620688.2:p.(Arg227Gln)	NC_000015.9:g.100821543C>T	(Likely) benign	1 lab	834c8f163b
9:135776225 TSC1 C>T	9	135776225	135776225	C	T	TSC1	c.2503-1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135776225C>T	(Likely) pathogenic	1 lab	834db1bd88
X:53278029 IQSEC2 C>T	X	53278029	53278029	C	T	IQSEC2	c.2333G>A	NM_001111125.2	NP_001104595.1:p.(Arg778Gln)	NC_000023.10:g.53278029C>T	VUS	1 lab	834ddfdddb
7:151878706 KMT2C C>G	7	151878706	151878706	C	G	KMT2C	c.6239G>C	NM_170606.3	NP_733751.2:p.(Arg2080Thr)	NC_000007.13:g.151878706C>G	VUS	1 lab	fab606704e
7:44269066 CAMK2B C>T	7	44269066	44269066	C	T	CAMK2B	c.1260G>A	NM_001220.5	NP_001211.3:p.(Arg420=)	NC_000007.13:g.44269066C>T	(Likely) benign	1 lab	fabb42527e
X:71802328 PHKA1 T>C	X	71802328	71802328	T	C	PHKA1	c.3418A>G	NM_002637.3	NP_002628.2:p.(Ile1140Val)	NC_000023.10:g.71802328T>C	(Likely) benign	1 lab	834fca1aa2
X:73812569 RLIM T>C	X	73812569	73812569	T	C	RLIM	c.581A>G	NM_183353.2	NP_899196.1:p.(Asn194Ser)	NC_000023.10:g.73812569T>C	(Likely) benign	1 lab	8350e38797
16:3647648 SLX4 A>G	16	3647648	3647648	A	G	SLX4	c.1415T>C	NM_032444.2	NP_115820.2:p.(Leu472Ser)	NC_000016.9:g.3647648A>G	VUS	1 lab	8353ded1ad
11:17667364 OTOG G>A	11	17667364	17667364	G	A	OTOG	c.8651G>A	NM_001277269.1	NP_001264198.1:p.(Arg2884Gln)	NC_000011.9:g.17667364G>A	VUS	1 lab	83545bd1c4
5:89989749 ADGRV1 C>G	5	89989749	89989749	C	G	ADGRV1	c.7176C>G	NM_032119.4	NP_115495.3:p.(Ser2392=)	NC_000005.9:g.89989749C>G	(Likely) benign	1 lab	8354979f40
5:73069857 ARHGEF28 T>C	5	73069857	73069857	T	C	ARHGEF28	c.653T>C	NM_001080479.2	NP_001073948.2:p.(Val218Ala)	NC_000005.9:g.73069857T>C	VUS	1 lab	8355382127
15:48755269 FBN1 T>C	15	48755269	48755269	T	C	FBN1	c.5224+10A>G	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48755269T>C	(Likely) benign	1 lab	8357377460
5:132224834 AFF4 G>A	5	132224834	132224834	G	A	AFF4	c.2669C>T	NM_014423.3	NP_055238.1:p.(Pro890Leu)	NC_000005.9:g.132224834G>A	(Likely) benign	1 lab	83579eb132
8:145584657 SLC52A2 A>G	8	145584657	145584657	A	G	SLC52A2	c.1320A>G	NM_001363118.1	NP_001350047.1:p.(Ala440=)	NC_000008.10:g.145584657A>G	(Likely) benign	1 lab	8359696dd5
2:105472687 POU3F3 C>CCGG	2	105472687	105472707	C	CCGG	POU3F3	c.737_739dup	NM_006236.3	NP_006227.1:p.(Gly246dup)	NC_000002.11:g.105472705_105472707dup	VUS	1 lab	fabb4c0fca
19:46280838 DMPK G>C	19	46280838	46280838	G	C	DMPK	c.923C>G	NM_001081563.2	NP_001075032.1:p.(Ser308Cys)	NC_000019.9:g.46280838G>C	(Likely) benign	1 lab	835d2911a5
13:114322165 GRK1 C>T	13	114322165	114322165	C	T	GRK1	c.464C>T	NM_002929.3	NP_002920.1:p.(Ala155Val)	NC_000013.10:g.114322165C>T	VUS	1 lab	835fd71def
X:123199767 STAG2 A>C	X	123199767	123199767	A	C	STAG2	c.2067A>C	NM_001042749.2	NP_001036214.1:p.(Ser689=)	NC_000023.10:g.123199767A>C	(Likely) benign	1 lab	8362a8fe9d
17:78169048 CARD14 G>A	17	78169048	78169048	G	A	CARD14	c.1415G>A	NM_024110.4	NP_077015.2:p.(Arg472His)	NC_000017.10:g.78169048G>A	(Likely) benign	1 lab	8363cb7b22
5:147443624 SPINK5 T>C	5	147443624	147443624	T	C	SPINK5	c.17T>C	NM_001127698.1	NP_001121170.1:p.(Val6Ala)	NC_000005.9:g.147443624T>C	(Likely) benign	1 lab	8363db4920
5:1266593 TERT C>T	5	1266593	1266593	C	T	TERT	c.2640G>A	NM_198253.2	NP_937983.2:p.(Ala880=)	NC_000005.9:g.1266593C>T	(Likely) benign	1 lab	83649bb244
X:153176278 ARHGAP4 T>C	X	153176278	153176278	T	C	ARHGAP4	c.1812A>G	NM_001164741.1	NP_001158213.1:p.(Pro604=)	NC_000023.10:g.153176278T>C	(Likely) benign	1 lab	83650b1267
22:50660057 TUBGCP6 G>A	22	50660057	50660057	G	A	TUBGCP6	c.2731C>T	NM_020461.3	NP_065194.2:p.(Gln911Ter)	NC_000022.10:g.50660057G>A	VUS	1 lab	8365245493
19:54299165 NLRP12 G>A	19	54299165	54299165	G	A	NLRP12	c.3046C>T	NM_144687.4	NP_653288.1:p.(Arg1016Ter)	NC_000019.9:g.54299165G>A	VUS	1 lab	fac5920024
15:28420763 HERC2 G>A	15	28420763	28420763	G	A	HERC2	c.9726C>T	NM_004667.5	NP_004658.3:p.(Asp3242=)	NC_000015.9:g.28420763G>A	(Likely) benign	1 lab	8366c5be06
X:134421701 ZNF75D C>T	X	134421701	134421701	C	T	ZNF75D	c.901G>A	NM_007131.4	NP_009062.2:p.(Glu301Lys)	NC_000023.10:g.134421701C>T	(Likely) benign	1 lab	83675be746
11:118499073 PHLDB1 C>T	11	118499073	118499073	C	T	PHLDB1	c.1534C>T	NM_015157.3	NP_055972.1:p.(Arg512Trp)	NC_000011.9:g.118499073C>T	VUS	1 lab	836aedce8a
6:157454234 ARID1B C>T	6	157454234	157454234	C	T	ARID1B	c.2405C>T	NM_001346813.1	NP_001333742.1:p.(Ser802Leu)	NC_000006.11:g.157454234C>T	(Likely) benign	1 lab	836d8af11d
10:105794512 COL17A1 T>C	10	105794512	105794512	T	C	COL17A1	c.3633A>G	NM_000494.4	NP_000485.3:p.(Ser1211=)	NC_000010.10:g.105794512T>C	(Likely) benign	1 lab	836e8df16c
12:49443634 KMT2D G>A	12	49443634	49443634	G	A	KMT2D	c.3737C>T	NM_003482.3	NP_003473.3:p.(Thr1246Met)	NC_000012.11:g.49443634G>A	(Likely) benign	1 lab	836fc216ac
15:27018100 GABRB3 G>A	15	27018100	27018100	G	A	GABRB3	c.10C>T	NM_000814.6	NP_000805.1:p.(Leu4Phe)	NC_000015.9:g.27018100G>A	(Likely) benign	1 lab	8371467367
9:77457209 TRPM6 C>T	9	77457209	77457209	C	T	TRPM6	c.203G>A	NM_017662.4	NP_060132.3:p.(Trp68Ter)	NC_000009.11:g.77457209C>T	(Likely) pathogenic	1 lab	83714ac578
15:44858754 MISSING 44970446>DEL	15	44858754	44970446	44970446	DEL	MISSING				NC_000015.9:g.44858754_44970446del	(Likely) pathogenic	1 lab	fac6ba0607
17:48155458 ITGA3 A>G	17	48155458	48155458	A	G	ITGA3	c.2188A>G	NM_002204.3	NP_002195.1:p.(Arg730Gly)	NC_000017.10:g.48155458A>G	VUS	1 lab	83726ddb55
6:33412401 SYNGAP1 T>C	6	33412401	33412401	T	C	SYNGAP1	c.3582+7T>C	NM_006772.2	NP_006763.2:p.?	NC_000006.11:g.33412401T>C	(Likely) benign	1 lab	8373deda8b
2:166892637 SCN1A A>G	2	166892637	166892637	A	G	SCN1A	c.3350T>C	NM_001202435.3	NP_001189364.1:p.(Ile1117Thr)	NC_000002.11:g.166892637A>G	VUS	1 lab	fac79d2033
13:114438193 GRK1 C>T	13	114438193	114438193	C	T	GRK1	c.1549C>T	NM_002929.3	NP_002920.1:p.(Pro517Ser)	NC_000013.10:g.114438193C>T	VUS	1 lab	8374f824cb
6:17616407 NUP153 T>C	6	17616407	17616407	T	C	NUP153	c.4442A>G	NM_001278209.1	NP_001265138.1:p.(Asn1481Ser)	NC_000006.11:g.17616407T>C	VUS	1 lab	8375250e2a
13:95696667 ABCC4 T>C	13	95696667	95696667	T	C	ABCC4	c.3482A>G	NM_005845.4	NP_005836.2:p.(Asp1161Gly)	NC_000013.10:g.95696667T>C	(Likely) benign	1 lab	837751af8c
18:67781783 RTTN T>C	18	67781783	67781783	T	C	RTTN	c.3581A>G	NM_173630.3	NP_775901.3:p.(Glu1194Gly)	NC_000018.9:g.67781783T>C	(Likely) benign	1 lab	8377cee109
9:77277479 RORB C>A	9	77277479	77277479	C	A	RORB	c.849C>A	NM_006914.4	NP_008845.2:p.(Phe283Leu)	NC_000009.11:g.77277479C>A	VUS	1 lab	fac7ba972b
20:25371134 ABHD12 CGCGCGAAG>C	20	25371134	25371142	CGCGCGAAG	C	ABHD12	c.191+7_191+14del	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371135_25371142del	(Likely) benign	1 lab	837a496c73
2:150426638 MMADHC T>C	2	150426638	150426638	T	C	MMADHC	c.741A>G	NM_015702.2	NP_056517.1:p.(Glu247=)	NC_000002.11:g.150426638T>C	(Likely) benign	1 lab	837b683749
8:30694873 TEX15 T>C	8	30694873	30694873	T	C	TEX15	c.8927A>G	NM_001350162.2	NP_001337091.1:p.(His2976Arg)	NC_000008.10:g.30694873T>C	VUS	1 lab	fac7f95440
15:28948465 GOLGA8M C>A	15	28948465	28948465	C	A	GOLGA8M	c.1368G>T	NM_001282468.1	NP_001269397.1:p.(Met456Ile)	NC_000015.9:g.28948465C>A	(Likely) benign	1 lab	837d8b1843
1:182501895 RGSL1 T>A	1	182501895	182501895	T	A	RGSL1	c.2463T>A	NM_001137669.2	NP_001131141.1:p.(Tyr821Ter)	NC_000001.10:g.182501895T>A	VUS	1 lab	837fd91324
10:26315318 MYO3A A>G	10	26315318	26315318	A	G	MYO3A	c.810A>G	NM_017433.5	NP_059129.3:p.(Lys270=)	NC_000010.10:g.26315318A>G	(Likely) benign	1 lab	838180031d
9:135787837 TSC1 T>A	9	135787837	135787837	T	A	TSC1	c.745A>T	NM_000368.4	NP_000359.1:p.(Arg249Ter)	NC_000009.11:g.135787837T>A	(Likely) pathogenic	1 lab	838182e0ca
9:113496656 MUSK G>A	9	113496656	113496656	G	A	MUSK	c.753+1G>A	NM_005592.3	NP_005583.1:p.?	NC_000009.11:g.113496656G>A	(Likely) pathogenic	1 lab	838293104f
18:21390362 LAMA3 A>G	18	21390362	21390362	A	G	LAMA3	c.1636A>G	NM_198129.2	NP_937762.2:p.(Met546Val)	NC_000018.9:g.21390362A>G	VUS	1 lab	8382f7647c
16:2106726 TSC2 T>C	16	2106726	2106726	T	C	TSC2	c.730T>C	NM_000548.3	NP_000539.2:p.(Cys244Arg)	NC_000016.9:g.2106726T>C	(Likely) pathogenic	1 lab	8384521216
19:49714471 TRPM4 C>G	19	49714471	49714471	C	G	TRPM4	c.3585C>G	NM_017636.3	NP_060106.2:p.(Arg1195=)	NC_000019.9:g.49714471C>G	(Likely) benign	1 lab	838501fb8f
16:89811442 FANCA C>G	16	89811442	89811442	C	G	FANCA	c.3551G>C	NM_001286167.2	NP_001273096.1:p.(Arg1184Pro)	NC_000016.9:g.89811442C>G	(Likely) benign	1 lab	8385703057
X:22051204 PHEX C>T	X	22051204	22051204	C	T	PHEX	c.81C>T	NM_000444.5	NP_000435.3:p.(Val27=)	NC_000023.10:g.22051204C>T	(Likely) benign	1 lab	8387713ad4
11:73796760 C2CD3 C>T	11	73796760	73796760	C	T	C2CD3	c.3813G>A	NM_001286577.1	NP_001273506.1:p.(Leu1271=)	NC_000011.9:g.73796760C>T	(Likely) benign	1 lab	8389194d26
6:146007358 EPM2A T>C	6	146007358	146007358	T	C	EPM2A	c.376A>G	NM_005670.3	NP_005661.1:p.(Ile126Val)	NC_000006.11:g.146007358T>C	(Likely) benign	1 lab	8389c0e807
8:41812839 KAT6A AG>A	8	41812839	41812841	AG	A	KAT6A	c.1572del	NM_006766.5	NP_006757.2:p.(Ser525ProfsTer20)	NC_000008.10:g.41812841del	(Likely) pathogenic	1 lab	838a17674e
9:18680350 ADAMTSL1 G>T	9	18680350	18680350	G	T	ADAMTSL1	c.1177G>T	NM_001040272.6	NP_001035362.3:p.(Gly393Trp)	NC_000009.11:g.18680350G>T	VUS	1 lab	facb8980d2
15:41689166 NDUFAF1 C>A	15	41689166	41689166	C	A	NDUFAF1	c.92G>T	NM_016013.4	NP_057097.2:p.(Arg31Leu)	NC_000015.9:g.41689166C>A	(Likely) benign	1 lab	faccb97f7e
7:1515873 INTS1 C>T	7	1515873	1515873	C	T	INTS1	c.5370G>A	NM_001080453.3	NP_001073922.2:p.(Trp1790Ter)	NC_000007.13:g.1515873C>T	(Likely) pathogenic	1 lab	838cce38ba
5:147493933 SPINK5 C>T	5	147493933	147493933	C	T	SPINK5	c.1896C>T	NM_001127698.1	NP_001121170.1:p.(Cys632=)	NC_000005.9:g.147493933C>T	(Likely) benign	1 lab	838d259d5e
14:105416592 AHNAK2 G>A	14	105416592	105416592	G	A	AHNAK2	c.5196C>T	NM_138420.3	NP_612429.2:p.(Pro1732=)	NC_000014.8:g.105416592G>A	(Likely) benign	1 lab	838d45d2a6
2:8874842 KIDINS220 A>C	2	8874842	8874842	A	C	KIDINS220	c.3759T>G	NM_020738.3	NP_065789.1:p.(Asp1253Glu)	NC_000002.11:g.8874842A>C	(Likely) benign	1 lab	838d62268c
14:105409299 AHNAK2 C>T	14	105409299	105409299	C	T	AHNAK2	c.12489G>A	NM_138420.3	NP_612429.2:p.(Ala4163=)	NC_000014.8:g.105409299C>T	(Likely) benign	1 lab	838f270413
10:81053190 ZMIZ1 G>A	10	81053190	81053190	G	A	ZMIZ1	c.1010G>A	NM_020338.4	NP_065071.1:p.(Arg337Gln)	NC_000010.10:g.81053190G>A	VUS	1 lab	fad09c896c
4:144617381 FREM3 A>G	4	144617381	144617381	A	G	FREM3	c.4448T>C	NM_001168235.1	NP_001161707.1:p.(Ile1483Thr)	NC_000004.11:g.144617381A>G	VUS	1 lab	838ff12568
9:33988990 UBAP2 G>A	9	33988990	33988990	G	A	UBAP2	c.423C>T	NM_018449.3	NP_060919.3:p.(Gly141=)	NC_000009.11:g.33988990G>A	(Likely) benign	1 lab	8392710c7c
1:237024416 MTR C>G	1	237024416	237024416	C	G	MTR	c.2044-9C>G	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.237024416C>G	(Likely) benign	1 lab	8392b49652
19:41029416 SPTBN4 G>A	19	41029416	41029416	G	A	SPTBN4	c.3727G>A	NM_020971.3	NP_066022.2:p.(Asp1243Asn)	NC_000019.9:g.41029416G>A	VUS	1 lab	fad4d40c5a
1:150530042 ADAMTSL4 C>T	1	150530042	150530042	C	T	ADAMTSL4	c.2189C>T	NM_001288608.1	NP_001275537.1:p.(Ala730Val)	NC_000001.10:g.150530042C>T	(Likely) benign	1 lab	8393781a01
1:228353763 IBA57 T>G	1	228353763	228353763	T	G	IBA57	c.246T>G	NM_001010867.3	NP_001010867.1:p.(Ser82Arg)	NC_000001.10:g.228353763T>G	(Likely) benign	1 lab	8393b9e3d5
X:14936846 MOSPD2 C>T	X	14936846	14936846	C	T	MOSPD2	c.1361C>T	NM_152581.3	NP_689794.1:p.(Thr454Met)	NC_000023.10:g.14936846C>T	(Likely) benign	1 lab	8397db9db2
8:43033233 HGSNAT G>A	8	43033233	43033233	G	A	HGSNAT	c.868G>A	NM_152419.2	NP_689632.2:p.(Gly290Arg)	NC_000008.10:g.43033233G>A	VUS	1 lab	8398001b28
11:47371413 MYBPC3 A>T	11	47371413	47371413	A	T	MYBPC3	c.566T>A	NM_000256.3	NP_000247.2:p.(Val189Asp)	NC_000011.9:g.47371413A>T	VUS	1 lab	fad4f322f2
3:113379151 USF3 C>G	3	113379151	113379151	C	G	USF3	c.1378G>C	NM_001009899.3	NP_001009899.3:p.(Glu460Gln)	NC_000003.11:g.113379151C>G	VUS	1 lab	839883305e
17:41258513 BRCA1 GC>G	17	41258513	41258516	GC	G	BRCA1	c.171del	NM_007294.4	NP_009225.1:p.(Pro58LeufsTer11)	NC_000017.10:g.41258516del	(Likely) pathogenic	1 lab	fad6166739
X:111698204 RTL4 C>T	X	111698204	111698204	C	T	RTL4	c.248C>T	NM_001004308.2	NP_001004308.2:p.(Thr83Ile)	NC_000023.10:g.111698204C>T	(Likely) benign	1 lab	8399ae56e4
3:147128352 ZIC1 C>G	3	147128352	147128352	C	G	ZIC1	c.453C>G	NM_003412.3	NP_003403.2:p.(Ala151=)	NC_000003.11:g.147128352C>G	(Likely) benign	1 lab	8399e49343
19:11096932 SMARCA4 G>A	19	11096932	11096932	G	A	SMARCA4	c.423G>A	NM_001128844.1	NP_001122316.1:p.(Ser141=)	NC_000019.9:g.11096932G>A	(Likely) benign	1 lab	839b6c4cd0
17:41258495 BRCA1 A>C	17	41258495	41258495	A	C	BRCA1	c.190T>G	NM_007294.3	NP_009225.1:p.(Cys64Gly)	NC_000017.10:g.41258495A>C	(Likely) pathogenic	1 lab	839c52da05
20:62305432 RTEL1 A>G	20	62305432	62305432	A	G	RTEL1	c.905A>G	NM_001283009.1	NP_001269938.1:p.(Asp302Gly)	NC_000020.10:g.62305432A>G	(Likely) benign	1 lab	839cf71fd0
2:27549748 GTF3C2 G>T	2	27549748	27549748	G	T	GTF3C2	c.2563C>A	NM_001318909.1	NP_001305838.1:p.(Pro855Thr)	NC_000002.11:g.27549748G>T	VUS	1 lab	839db69d15
7:128494951 FLNC G>A	7	128494951	128494951	G	A	FLNC	c.7120G>A	NM_001458.4	NP_001449.3:p.(Val2374Ile)	NC_000007.13:g.128494951G>A	(Likely) benign	1 lab	839e5ff84c
X:10176348 CLCN4 G>A	X	10176348	10176348	G	A	CLCN4	c.1107G>A	NM_001830.3	NP_001821.2:p.(Pro369=)	NC_000023.10:g.10176348G>A	(Likely) benign	1 lab	839f1d7228
16:77317974 ADAMTS18 AT>A	16	77317974	77317975	AT	A	ADAMTS18	c.3551-7del	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77317975del	(Likely) benign	1 lab	839f4e7e6a
19:36580153 WDR62 G>C	19	36580153	36580153	G	C	WDR62	c.1903G>C	NM_001083961.1	NP_001077430.1:p.(Asp635His)	NC_000019.9:g.36580153G>C	VUS	1 lab	83a2234309
12:56398500 SUOX G>T	12	56398500	56398500	G	T	SUOX	c.1327G>T	NM_000456.2	NP_000447.2:p.(Val443Leu)	NC_000012.11:g.56398500G>T	VUS	1 lab	83a36b8f3e
17:29653297 NF1 C>T	17	29653297	29653297	C	T	NF1	c.5205+27C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653297C>T	(Likely) benign	1 lab	83a65a2aed
16:1555515 TELO2 C>T	16	1555515	1555515	C	T	TELO2	c.1947C>T	NM_016111.3	NP_057195.2:p.(Ala649=)	NC_000016.9:g.1555515C>T	(Likely) benign	1 lab	83a6619579
16:14723963 PARN C>G	16	14723963	14723963	C	G	PARN	c.19+1G>C	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14723963C>G	(Likely) pathogenic	1 lab	83a6dcd4d2
14:102472440 DYNC1H1 C>T	14	102472440	102472440	C	T	DYNC1H1	c.5649C>T	NM_001376.4	NP_001367.2:p.(Pro1883=)	NC_000014.8:g.102472440C>T	(Likely) benign	1 lab	83a7ec267f
21:46911171 COL18A1 G>A	21	46911171	46911171	G	A	COL18A1	c.2100G>A	NM_130445.2	NP_569712.2:p.(Pro700=)	NC_000021.8:g.46911171G>A	(Likely) benign	1 lab	83a8eb1a5a
15:75499848 C15orf39 C>T	15	75499848	75499848	C	T	C15orf39	c.1459C>T	NM_015492.5	NP_056307.3:p.(Pro487Ser)	NC_000015.9:g.75499848C>T	(Likely) benign	1 lab	83aa174910
X:53561531 HUWE1 G>T	X	53561531	53561531	G	T	HUWE1	c.12777C>A	NM_031407.6	NP_113584.3:p.(Ile4259=)	NC_000023.10:g.53561531G>T	(Likely) benign	1 lab	83ad751e8e
19:42778215 CIC G>A	19	42778215	42778215	G	A	CIC	c.2280G>A	NM_001304815.1	NP_001291744.1:p.(Thr760=)	NC_000019.9:g.42778215G>A	(Likely) benign	1 lab	83ae43afdc
20:13797156 NDUFAF5 C>T	20	13797156	13797156	C	T	NDUFAF5	c.265C>T	NM_001352407.1	NP_001339336.1:p.(Arg89Ter)	NC_000020.10:g.13797156C>T	(Likely) pathogenic	1 lab	83aea18453
7:117431471 CTTNBP2 T>C	7	117431471	117431471	T	C	CTTNBP2	c.1779A>G	NM_033427.2	NP_219499.1:p.(Gln593=)	NC_000007.13:g.117431471T>C	(Likely) benign	1 lab	83af4f2210
2:10929993 PDIA6 T>C	2	10929993	10929993	T	C	PDIA6	c.866A>G	NM_001282705.1	NP_001269634.1:p.(Lys289Arg)	NC_000002.11:g.10929993T>C	VUS	1 lab	83b06b8ffd
19:36592660 WDR62 G>A	19	36592660	36592660	G	A	WDR62	c.3066G>A	NM_001083961.1	NP_001077430.1:p.(Ser1022=)	NC_000019.9:g.36592660G>A	(Likely) benign	1 lab	83b1590cff
X:66937382 AR A>G	X	66937382	66937382	A	G	AR	c.2236A>G	NM_000044.4	NP_000035.2:p.(Met746Val)	NC_000023.10:g.66937382A>G	(Likely) pathogenic	1 lab	83b1f2c695
X:123518238 TENM1 G>A	X	123518238	123518238	G	A	TENM1	c.6543C>T	NM_001163278.1	NP_001156750.1:p.(Tyr2181=)	NC_000023.10:g.123518238G>A	(Likely) benign	1 lab	83b36ad0e4
17:29670115 NF1 C>CT	17	29670115	29670116	C	CT	NF1	c.7089dup	NM_000267.3	NP_000258.1:p.(Asn2364Ter)	NC_000017.10:g.29670116dup	(Likely) pathogenic	1 lab	83b3f351c6
15:78458483 IDH3A G>A	15	78458483	78458483	G	A	IDH3A	c.865-9G>A	NM_005530.3	NP_005521.1:p.?	NC_000015.9:g.78458483G>A	(Likely) benign	1 lab	83bf4d3795
X:152807897 ATP2B3 C>G	X	152807897	152807897	C	G	ATP2B3	c.781C>G	NM_021949.3	NP_068768.2:p.(Leu261Val)	NC_000023.10:g.152807897C>G	VUS	1 lab	83b7874e86
X:150889865 FATE1 A>C	X	150889865	150889865	A	C	FATE1	c.235-2A>C	NM_033085.2	NP_149076.1:p.?	NC_000023.10:g.150889865A>C	VUS	1 lab	83b92391ed
17:29562602 NF1 A>G	17	29562602	29562602	A	G	NF1	c.3709-27A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562602A>G	(Likely) benign	1 lab	83b97403c5
17:80789648 ZNF750 A>G	17	80789648	80789648	A	G	ZNF750	c.683T>C	NM_024702.2	NP_078978.2:p.(Leu228Pro)	NC_000017.10:g.80789648A>G	(Likely) benign	1 lab	83b9f3a2fe
6:72947570 RIMS1 C>T	6	72947570	72947570	C	T	RIMS1	c.1902C>T	NM_014989.5	NP_055804.2:p.(Phe634=)	NC_000006.11:g.72947570C>T	(Likely) benign	1 lab	83ba834d36
15:43687362 TUBGCP4 G>A	15	43687362	43687362	G	A	TUBGCP4	c.1065+7G>A	NM_001286414.2	NP_001273343.1:p.?	NC_000015.9:g.43687362G>A	(Likely) benign	1 lab	83ba86e869
X:6069453 NLGN4X C>T	X	6069453	6069453	C	T	NLGN4X	c.55G>A	NM_001282145.1	NP_001269074.1:p.(Val19Ile)	NC_000023.10:g.6069453C>T	(Likely) benign	1 lab	83bb870bb1
19:46269792 SIX5 C>A	19	46269792	46269792	C	A	SIX5	c.1425G>T	NM_175875.4	NP_787071.2:p.(Leu475=)	NC_000019.9:g.46269792C>A	(Likely) benign	1 lab	83bc3022a2
19:13318806 CACNA1A C>T	19	13318806	13318806	C	T	CACNA1A	c.6860G>A	NM_023035.2	NP_075461.2:p.(Arg2287Gln)	NC_000019.9:g.13318806C>T	(Likely) benign	1 lab	83bc63d802
X:140984490 MAGEC3 A>G	X	140984490	140984490	A	G	MAGEC3	c.52A>G	NM_177456.2	NP_803251.1:p.(Asn18Asp)	NC_000023.10:g.140984490A>G	(Likely) benign	1 lab	83bc87dda9
8:140715140 KCNK9 G>C	8	140715140	140715140	G	C	KCNK9	c.96C>G	NM_001282534.1	NP_001269463.1:p.(Asp32Glu)	NC_000008.10:g.140715140G>C	(Likely) benign	1 lab	83bf2f0e9a
6:144780112 UTRN C>T	6	144780112	144780112	C	T	UTRN	c.2491C>T	NM_007124.2	NP_009055.2:p.(Arg831Trp)	NC_000006.11:g.144780112C>T	(Likely) benign	1 lab	83bfb156a9
X:154129710 F8 C>G	X	154129710	154129710	C	G	F8	c.6123G>C	NM_000132.3	NP_000123.1:p.(Gln2041His)	NC_000023.10:g.154129710C>G	VUS	1 lab	83bfc1a713
10:123325184 FGFR2 T>G	10	123325184	123325184	T	G	FGFR2	c.144A>C	NM_022970.3	NP_075259.4:p.(Glu48Asp)	NC_000010.10:g.123325184T>G	(Likely) benign	1 lab	83bfe5225f
16:88494932 ZNF469 A>G	16	88494932	88494932	A	G	ZNF469				NC_000016.9:g.88494932A>G	VUS	1 lab	83bfe9fc7c
3:50379075 ZMYND10 G>A	3	50379075	50379075	G	A	ZMYND10	c.1177C>T	NM_015896.3	NP_056980.2:p.(Arg393Cys)	NC_000003.11:g.50379075G>A	VUS	1 lab	83c11c9978
2:179439125 TTN G>A	2	179439125	179439125	G	A	TTN	c.71734C>T	NM_001267550.2	NP_001254479.2:p.(Pro23912Ser)	NC_000002.11:g.179439125G>A	VUS	1 lab	fad7f08d80
2:169853214 ABCB11 G>A	2	169853214	169853214	G	A	ABCB11	c.408C>T	NM_003742.4	NP_003733.2:p.(Ser136=)	NC_000002.11:g.169853214G>A	(Likely) benign	1 lab	83c3b60a0d
3:124103763 KALRN C>A	3	124103763	124103763	C	A	KALRN	c.1836C>A	NM_001024660.4	NP_001019831.2:p.(Pro612=)	NC_000003.11:g.124103763C>A	(Likely) benign	1 lab	83c3f34eec
11:93463135 CEP295 G>A	11	93463135	93463135	G	A	CEP295	c.7667G>A	NM_033395.2	NP_203753.1:p.(Arg2556Lys)	NC_000011.9:g.93463135G>A	VUS	1 lab	83c433a197
X:70612778 TAF1 C>T	X	70612778	70612778	C	T	TAF1	c.3045C>T	NM_001286074.1	NP_001273003.1:p.(Asp1015=)	NC_000023.10:g.70612778C>T	(Likely) benign	1 lab	83c4598ab7
14:35871715 NFKBIA C>T	14	35871715	35871715	C	T	NFKBIA	c.791G>A	NM_020529.2	NP_065390.1:p.(Arg264Gln)	NC_000014.8:g.35871715C>T	(Likely) benign	1 lab	83c527e7f2
3:50379974 ZMYND10 G>A	3	50379974	50379974	G	A	ZMYND10	c.727C>T	NM_015896.3	NP_056980.2:p.(Arg243Cys)	NC_000003.11:g.50379974G>A	VUS	1 lab	83c875401d
16:53690479 RPGRIP1L C>CG	16	53690479	53690482	C	CG	RPGRIP1L	c.1603dup	NM_015272.4	NP_056087.2:p.(Arg535ProfsTer2)	NC_000016.9:g.53690482dup	(Likely) pathogenic	1 lab	83cc347347
13:110830235 COL4A1 C>T	13	110830235	110830235	C	T	COL4A1	c.2670G>A	NM_001845.5	NP_001836.3:p.(Pro890=)	NC_000013.10:g.110830235C>T	(Likely) benign	1 lab	83cc406de1
19:34941266 UBA2 C>T	19	34941266	34941266	C	T	UBA2	c.868C>T	NM_005499.3	NP_005490.1:p.(Gln290Ter)	NC_000019.9:g.34941266C>T	VUS	1 lab	83ccb36719
13:25486859 CPAP A>T	13	25486859	25486859	A	T	CPAP	c.305T>A	NM_018451.4	NP_060921.3:p.(Ile102Asn)	NC_000013.10:g.25486859A>T	(Likely) benign	1 lab	83cfbdd362
4:144620134 FREM3 A>G	4	144620134	144620134	A	G	FREM3	c.1695T>C	NM_001168235.1	NP_001161707.1:p.(Phe565=)	NC_000004.11:g.144620134A>G	(Likely) benign	1 lab	83d0e100c2
4:170506665 NEK1 C>T	4	170506665	170506665	C	T	NEK1	c.642G>A	NM_001199397.1	NP_001186326.1:p.(Lys214=)	NC_000004.11:g.170506665C>T	(Likely) benign	1 lab	83d0e33840
3:10188245 VHL G>T	3	10188245	10188245	G	T	VHL	c.388G>T	NM_000551.3	NP_000542.1:p.(Val130Phe)	NC_000003.11:g.10188245G>T	(Likely) pathogenic	1 lab	83d17757a0
17:29549019 NF1 CTG>C	17	29549019	29549022	CTG	C	NF1	c.1721+74_1721+75del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29549021_29549022del	(Likely) benign	1 lab	83d2ee987f
2:152500323 NEB T>C	2	152500323	152500323	T	C	NEB	c.7956+9A>G	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152500323T>C	(Likely) benign	1 lab	83d41d8f7d
X:48325426 SLC38A5 G>A	X	48325426	48325426	G	A	SLC38A5	c.168C>T	NM_033518.3	NP_277053.2:p.(Asn56=)	NC_000023.10:g.48325426G>A	(Likely) benign	1 lab	83d44bec14
5:149242681 PDE6A CCTGACTTGGCCGA>C	5	149242681	149242697	CCTGACTTGGCCGA	C	PDE6A	c.2494_2506del	NM_000440.3	NP_000431.2:p.(Ser832GlnfsTer56)	NC_000005.9:g.149242685_149242697del	(Likely) pathogenic	1 lab	83d4ce50c7
2:198571890 MARS2 G>T	2	198571890	198571890	G	T	MARS2	c.1761G>T	NM_138395.3	NP_612404.1:p.(Leu587=)	NC_000002.11:g.198571890G>T	(Likely) benign	1 lab	83d4dd673a
14:21878057 CHD8 G>C	14	21878057	21878057	G	C	CHD8	c.2317C>G	NM_001170629.1	NP_001164100.1:p.(Arg773Gly)	NC_000014.8:g.21878057G>C	VUS	1 lab	83d4e2ca21
12:114793613 TBX5 G>A	12	114793613	114793613	G	A	TBX5	c.1281C>T	NM_000192.3	NP_000183.2:p.(Ser427=)	NC_000012.11:g.114793613G>A	(Likely) benign	1 lab	83d6c8885b
18:43469890 EPG5 T>TTA	18	43469890	43469891	T	TTA	EPG5	c.4824_4825insTA	NM_020964.3	NP_066015.2:p.(Lys1609Ter)	NC_000018.9:g.43469890_43469891insTA	VUS	1 lab	83d7fa1bb6
20:5099430 PCNA C>T	20	5099430	5099430	C	T	PCNA	c.304G>A	NM_002592.2	NP_002583.1:p.(Val102Ile)	NC_000020.10:g.5099430C>T	(Likely) benign	1 lab	83db3f397e
X:129185907 BCORL1 C>T	X	129185907	129185907	C	T	BCORL1	c.4991C>T	NM_001184772.2	NP_001171701.1:p.(Pro1664Leu)	NC_000023.10:g.129185907C>T	VUS	1 lab	83db4f5968
9:108136938 SLC44A1 C>T	9	108136938	108136938	C	T	SLC44A1	c.1554C>T	NM_080546.5	NP_536856.2:p.(Ala518=)	NC_000009.11:g.108136938C>T	(Likely) benign	1 lab	83db64b6fd
4:6302731 WFS1 G>A	4	6302731	6302731	G	A	WFS1	c.1209G>A	NM_006005.3	NP_005996.2:p.(Glu403=)	NC_000004.11:g.6302731G>A	(Likely) benign	1 lab	83dd10e41a
11:76913414 MYO7A C>A	11	76913414	76913414	C	A	MYO7A	c.5113C>A	NM_000260.3	NP_000251.3:p.(Pro1705Thr)	NC_000011.9:g.76913414C>A	VUS	1 lab	83ddcaaa9d
9:79936084 VPS13A G>T	9	79936084	79936084	G	T	VPS13A	c.5416-1G>T	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79936084G>T	VUS	1 lab	83dfc1dcc6
1:151780099 RORC T>C	1	151780099	151780099	T	C	RORC	c.1406A>G	NM_005060.4	NP_005051.2:p.(Lys469Arg)	NC_000001.10:g.151780099T>C	(Likely) benign	1 lab	83e1258ebd
X:55041384 ALAS2 G>C	X	55041384	55041384	G	C	ALAS2	c.1233C>G	NM_000032.5	NP_000023.2:p.(Arg411=)	NC_000023.10:g.55041384G>C	(Likely) benign	1 lab	83e2034cac
2:99013409 CNGA3 C>T	2	99013409	99013409	C	T	CNGA3	c.1776C>T	NM_001298.2	NP_001289.1:p.(Pro592=)	NC_000002.11:g.99013409C>T	(Likely) benign	1 lab	83e349d805
19:3977206 EEF2 C>A	19	3977206	3977206	C	A	EEF2	c.2383+7G>T	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3977206C>A	(Likely) benign	1 lab	83e351fdeb
15:89868909 POLG C>T	15	89868909	89868909	C	T	POLG	c.1721G>A	NM_002693.2	NP_002684.1:p.(Arg574Gln)	NC_000015.9:g.89868909C>T	VUS	1 lab	83e4233a63
3:52507788 NISCH C>T	3	52507788	52507788	C	T	NISCH	c.708C>T	NM_007184.3	NP_009115.2:p.(Val236=)	NC_000003.11:g.52507788C>T	(Likely) benign	1 lab	83e636552e
22:21350382 LZTR1 A>G	22	21350382	21350382	A	G	LZTR1	c.2200A>G	NM_006767.3	NP_006758.2:p.(Met734Val)	NC_000022.10:g.21350382A>G	VUS	1 lab	83e9cce951
1:240371616 FMN2 A>T	1	240371616	240371616	A	T	FMN2	c.3504A>T	NM_020066.5	NP_064450.3:p.(Leu1168=)	NC_000001.10:g.240371616A>T	(Likely) benign	1 lab	83eb3c52e1
11:134127031 ACAD8 GA>G	11	134127031	134127032	GA	G	ACAD8	c.261del	NM_014384.3	NP_055199.1:p.(Val89SerfsTer35)	NC_000011.9:g.134127032del	VUS	1 lab	83ebfcdfa2
3:133661577 SLCO2A1 G>A	3	133661577	133661577	G	A	SLCO2A1	c.1497C>T	NM_005630.2	NP_005621.2:p.(Ser499=)	NC_000003.11:g.133661577G>A	(Likely) benign	1 lab	83ed65bedd
X:152914834 DUSP9 C>T	X	152914834	152914834	C	T	DUSP9	c.521C>T	NM_001318503.2	NP_001305432.1:p.(Ala174Val)	NC_000023.10:g.152914834C>T	(Likely) benign	1 lab	83ed7033e4
9:135772868 TSC1 TC>T	9	135772868	135772869	TC	T	TSC1	c.2754del	NM_000368.5	NP_000359.1:p.(Asp920ThrfsTer11)	NC_000009.11:g.135772869del	(Likely) pathogenic	1 lab	83ee90abed
3:38180338 MYD88 G>A	3	38180338	38180338	G	A	MYD88	c.147G>A	NM_001172566.2	NP_001166037.2:p.(Ala49=)	NC_000003.11:g.38180338G>A	(Likely) benign	1 lab	83ef72f8e0
22:38097486 TRIOBP G>C	22	38097486	38097486	G	C	TRIOBP	c.114G>C	NM_001039141.2	NP_001034230.1:p.(Gln38His)	NC_000022.10:g.38097486G>C	VUS	1 lab	83f169bf84
19:18279558 PIK3R2 G>A	19	18279558	18279558	G	A	PIK3R2	c.1831G>A	NM_005027.3	NP_005018.1:p.(Glu611Lys)	NC_000019.9:g.18279558G>A	VUS	1 lab	83f1755935
17:37881961 ERBB2 T>G	17	37881961	37881961	T	G	ERBB2	c.2682T>G	NM_001289936.1	NP_001276865.1:p.(Gly894=)	NC_000017.10:g.37881961T>G	(Likely) benign	1 lab	83f2b75fa6
22:37330016 CSF2RB G>A	22	37330016	37330016	G	A	CSF2RB	c.1295G>A	NM_000395.2	NP_000386.1:p.(Arg432His)	NC_000022.10:g.37330016G>A	VUS	1 lab	83f61bb141
3:132435639 NPHP3 G>T	3	132435639	132435639	G	T	NPHP3	c.785C>A	NM_153240.4	NP_694972.3:p.(Ser262Tyr)	NC_000003.11:g.132435639G>T	VUS	1 lab	83f91258ce
6:13320957 TBC1D7 AAAGT>A	6	13320957	13320964	AAAGT	A	TBC1D7	c.381+179_381+182del	NM_016495.6	NP_057579.1:p.?	NC_000006.11:g.13320961_13320964del	VUS	1 lab	83f9b26524
11:10874481 ZBED5 C>T	11	10874481	10874481	C	T	ZBED5	c.2012G>A	NM_021211.3	NP_067034.2:p.(Arg671Gln)	NC_000011.9:g.10874481C>T	(Likely) benign	1 lab	83fc05e091
5:11082818 CTNND2 C>T	5	11082818	11082818	C	T	CTNND2	c.2778G>A	NM_001332.3	NP_001323.1:p.(Lys926=)	NC_000005.9:g.11082818C>T	(Likely) benign	1 lab	83fc6cabfe
19:42879853 MEGF8 C>T	19	42879853	42879853	C	T	MEGF8	c.7464C>T	NM_001271938.2	NP_001258867.1:p.(Asp2488=)	NC_000019.9:g.42879853C>T	(Likely) benign	1 lab	83fcb9e2e3
16:2121508 TSC2 C>G	16	2121508	2121508	C	G	TSC2	c.1840-3C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121508C>G	(Likely) pathogenic	1 lab	83fe9920ad
X:39932087 BCOR G>A	X	39932087	39932087	G	A	BCOR	c.2512C>T	NM_001123385.1	NP_001116857.1:p.(Pro838Ser)	NC_000023.10:g.39932087G>A	(Likely) benign	1 lab	83ff8c34e9
6:145069622 UTRN C>T	6	145069622	145069622	C	T	UTRN	c.8180C>T	NM_007124.2	NP_009055.2:p.(Ser2727Leu)	NC_000006.11:g.145069622C>T	VUS	1 lab	83ffaa698b
7:2578254 BRAT1 GCA>G	7	2578254	2578258	GCA	G	BRAT1	c.1913_1914del	NM_152743.4	NP_689956.2:p.(Val638AlafsTer64)	NC_000007.13:g.2578257_2578258del	(Likely) pathogenic	1 lab	840011c92d
6:33147562 COL11A2 C>T	6	33147562	33147562	C	T	COL11A2	c.1380G>A	NM_080680.2	NP_542411.2:p.(Gly460=)	NC_000006.11:g.33147562C>T	VUS	1 lab	8400bb2611
1:210139302 SYT14 G>A	1	210139302	210139302	G	A	SYT14	c.140G>A	NM_001146261.2	NP_001139733.1:p.(Arg47His)	NC_000001.10:g.210139302G>A	(Likely) benign	1 lab	8400f2a8b5
6:152725449 SYNE1 A>T	6	152725449	152725449	A	T	SYNE1	c.6724T>A	NM_182961.3	NP_892006.3:p.(Ser2242Thr)	NC_000006.11:g.152725449A>T	(Likely) benign	1 lab	8401c6a373
7:107303763 SLC26A4 G>A	7	107303763	107303763	G	A	SLC26A4	c.187G>A	NM_000441.1	NP_000432.1:p.(Gly63Ser)	NC_000007.13:g.107303763G>A	(Likely) benign	1 lab	84023951c0
4:122739985 CCNA2 T>C	4	122739985	122739985	T	C	CCNA2	c.1086A>G	NM_001237.4	NP_001228.1:p.(Leu362=)	NC_000004.11:g.122739985T>C	(Likely) benign	1 lab	84027512a4
1:22149840 HSPG2 G>T	1	22149840	22149840	G	T	HSPG2	c.13148C>A	NM_001291860.1	NP_001278789.1:p.(Ala4383Asp)	NC_000001.10:g.22149840G>T	VUS	1 lab	8403b23a97
7:77256617 PTPN12 C>T	7	77256617	77256617	C	T	PTPN12	c.1621C>T	NM_002835.3	NP_002826.3:p.(Pro541Ser)	NC_000007.13:g.77256617C>T	VUS	1 lab	840488f1f0
1:120471857 NOTCH2 C>T	1	120471857	120471857	C	T	NOTCH2	c.3656-22G>A	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120471857C>T	(Likely) benign	1 lab	8405a14b62
4:79301080 FRAS1 G>A	4	79301080	79301080	G	A	FRAS1	c.3493G>A	NM_025074.7	NP_079350.5:p.(Ala1165Thr)	NC_000004.11:g.79301080G>A	(Likely) benign	1 lab	8405a5750c
3:9970063 IL17RC G>A	3	9970063	9970063	G	A	IL17RC	c.1165G>A	NM_153461.3	NP_703191.1:p.(Ala389Thr)	NC_000003.11:g.9970063G>A	(Likely) benign	1 lab	840630e79d
12:104336376 HSP90B1 T>C	12	104336376	104336376	T	C	HSP90B1	c.1446T>C	NM_003299.3	NP_003290.1:p.(Asp482=)	NC_000012.11:g.104336376T>C	(Likely) benign	1 lab	840641aee2
16:74336136 PSMD7 G>A	16	74336136	74336136	G	A	PSMD7	c.384G>A	NM_002811.5	NP_002802.2:p.(Pro128=)	NC_000016.9:g.74336136G>A	(Likely) benign	1 lab	840788b088
6:137146347 PEX7 T>G	6	137146347	137146347	T	G	PEX7	c.131-5T>G	NM_000288.3	NP_000279.1:p.?	NC_000006.11:g.137146347T>G	(Likely) benign	1 lab	8407bdf087
5:149775843 TCOF1 A>G	5	149775843	149775843	A	G	TCOF1	c.3782-2A>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149775843A>G	(Likely) pathogenic	1 lab	840a023770
16:68679634 CDH3 C>G	16	68679634	68679634	C	G	CDH3	c.141C>G	NM_001317195.1	NP_001304124.1:p.(Pro47=)	NC_000016.9:g.68679634C>G	(Likely) benign	1 lab	840ab9ff4e
1:9784108 PIK3CD C>T	1	9784108	9784108	C	T	PIK3CD	c.2676C>T	NM_005026.3	NP_005017.3:p.(Gly892=)	NC_000001.10:g.9784108C>T	(Likely) benign	1 lab	840b79102a
13:114434253 GRK1 C>T	13	114434253	114434253	C	T	GRK1	c.1131C>T	NM_002929.3	NP_002920.1:p.(Ala377=)	NC_000013.10:g.114434253C>T	(Likely) benign	1 lab	840e30d932
14:23883064 MYH7 C>T	14	23883064	23883064	C	T	MYH7	c.5694G>A	NM_000257.2	NP_000248.2:p.(Lys1898=)	NC_000014.8:g.23883064C>T	(Likely) benign	1 lab	840f84c7de
17:39727894 KRT9 A>G	17	39727894	39727894	A	G	KRT9	c.351T>C	NM_000226.4	NP_000217.2:p.(Gly117=)	NC_000017.10:g.39727894A>G	(Likely) benign	1 lab	fae6c36405
6:74207596 MTO1 C>T	6	74207596	74207596	C	T	MTO1	c.2014C>T	NM_001123226.1	NP_001116698.1:p.(Leu672=)	NC_000006.11:g.74207596C>T	(Likely) benign	1 lab	840fec1663
3:75787166 ZNF717 T>C	3	75787166	75787166	T	C	ZNF717	c.1608A>G	NM_001324027.1	NP_001310956.1:p.(Ala536=)	NC_000003.11:g.75787166T>C	(Likely) benign	1 lab	8410086936
X:48762179 SLC35A2 T>C	X	48762179	48762179	T	C	SLC35A2	c.1091A>G	NM_001282651.1	NP_001269580.1:p.(Tyr364Cys)	NC_000023.10:g.48762179T>C	VUS	1 lab	8410087d1f
X:153171445 AVPR2 T>C	X	153171445	153171445	T	C	AVPR2	c.485T>C	NM_001146151.2	NP_001139623.1:p.(Val162Ala)	NC_000023.10:g.153171445T>C	(Likely) benign	1 lab	84103ae256
6:12123074 HIVEP1 G>A	6	12123074	12123074	G	A	HIVEP1	c.3046G>A	NM_002114.4	NP_002105.3:p.(Ala1016Thr)	NC_000006.11:g.12123074G>A	(Likely) benign	1 lab	84110fe901
1:116269657 CASQ2 A>G	1	116269657	116269657	A	G	CASQ2	c.693T>C	NM_001232.3	NP_001223.2:p.(Pro231=)	NC_000001.10:g.116269657A>G	(Likely) benign	1 lab	8411e6af94
11:124766129 ROBO4 T>C	11	124766129	124766129	T	C	ROBO4	c.644A>G	NM_019055.5	NP_061928.4:p.(His215Arg)	NC_000011.9:g.124766129T>C	VUS	1 lab	8412a95ea9
X:122830623 THOC2 T>G	X	122830623	122830623	T	G	THOC2	c.415A>C	NM_001081550.2	NP_001075019.1:p.(Lys139Gln)	NC_000023.10:g.122830623T>G	VUS	1 lab	faeafdf9d5
6:33134290 COL11A2 G>A	6	33134290	33134290	G	A	COL11A2	c.4392C>T	NM_080680.2	NP_542411.2:p.(Pro1464=)	NC_000006.11:g.33134290G>A	(Likely) benign	1 lab	84199e2e89
17:3392612 ASPA G>C	17	3392612	3392612	G	C	ASPA				NC_000017.10:g.3392612G>C	VUS	1 lab	841c433d61
3:16638505 DAZL T>C	3	16638505	16638505	T	C	DAZL	c.408A>G	NM_001190811.1	NP_001177740.1:p.(Lys136=)	NC_000003.11:g.16638505T>C	(Likely) benign	1 lab	841d0c139b
7:44151467 AEBP1 C>T	7	44151467	44151467	C	T	AEBP1	c.1855C>T	NM_001129.4	NP_001120.3:p.(Arg619Cys)	NC_000007.13:g.44151467C>T	VUS	1 lab	841d4b9a13
20:31023997 ASXL1 T>C	20	31023997	31023997	T	C	ASXL1	c.3482T>C	NM_015338.5	NP_056153.2:p.(Met1161Thr)	NC_000020.10:g.31023997T>C	(Likely) benign	1 lab	841d7402c8
9:12708990 TYRP1 T>C	9	12708990	12708990	T	C	TYRP1	c.1422T>C	NM_000550.2	NP_000541.1:p.(Ser474=)	NC_000009.11:g.12708990T>C	(Likely) benign	1 lab	841e7b062e
17:41226344 BRCA1 T>A	17	41226344	41226344	T	A	BRCA1	c.4675+4A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226344T>A	VUS	1 lab	84201756b8
13:32931858 BRCA2 G>A	13	32931858	32931858	G	A	BRCA2	c.7618-21G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32931858G>A	(Likely) benign	1 lab	84213c3c07
1:57351836 C8A C>T	1	57351836	57351836	C	T	C8A	c.1092C>T	NM_000562.2	NP_000553.1:p.(Ser364=)	NC_000001.10:g.57351836C>T	(Likely) benign	1 lab	84238b60c0
12:114836375 TBX5 C>CA	12	114836375	114836376	C	CA	TBX5	c.510+2dup	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114836376dup	(Likely) pathogenic	1 lab	84241219ff
19:34003638 PEPD G>A	19	34003638	34003638	G	A	PEPD	c.62C>T	NM_000285.3	NP_000276.2:p.(Ala21Val)	NC_000019.9:g.34003638G>A	(Likely) benign	1 lab	8425e95be3
10:72195386 NODAL G>A	10	72195386	72195386	G	A	NODAL	c.547C>T	NM_018055.4	NP_060525.3:p.(Arg183Trp)	NC_000010.10:g.72195386G>A	VUS	1 lab	8426962b9a
2:238249656 COL6A3 A>G	2	238249656	238249656	A	G	COL6A3	c.7903T>C	NM_004369.3	NP_004360.2:p.(Phe2635Leu)	NC_000002.11:g.238249656A>G	VUS	1 lab	84271e132c
7:103276776 RELN C>A	7	103276776	103276776	C	A	RELN	c.2209G>T	NM_173054.2	NP_774959.1:p.(Gly737Cys)	NC_000007.13:g.103276776C>A	VUS	1 lab	84272f9789
12:32977035 PKP2 CAA>ATT	12	32977035	32977037	CAA	ATT	PKP2	c.1748_1750delinsAAT	NM_004572.3	NP_004563.2:p.(Ile583_Asp584delinsLysTyr)	NC_000012.11:g.32977035_32977037delinsATT	VUS	1 lab	8428bec419
10:129913215 MKI67 A>T	10	129913215	129913215	A	T	MKI67	c.1457T>A	NM_002417.4	NP_002408.3:p.(Ile486Asn)	NC_000010.10:g.129913215A>T	VUS	1 lab	842991260b
X:53280105 IQSEC2 G>A	X	53280105	53280105	G	A	IQSEC2	c.1653C>T	NM_001111125.2	NP_001104595.1:p.(Leu551=)	NC_000023.10:g.53280105G>A	(Likely) benign	1 lab	842e7aeec8
16:2135323 TSC2 G>C	16	2135323	2135323	G	C	TSC2	c.4662G>C	NM_000548.3	NP_000539.2:p.(Gln1554His)	NC_000016.9:g.2135323G>C	VUS	1 lab	8430878509
2:121748121 GLI2 T>C	2	121748121	121748121	T	C	GLI2	c.4631T>C	NM_005270.4	NP_005261.2:p.(Leu1544Pro)	NC_000002.11:g.121748121T>C	VUS	1 lab	8431cc47de
2:179443597 TTN G>A	2	179443597	179443597	G	A	TTN	c.68160C>T	NM_001267550.1	NP_001254479.1:p.(Ala22720=)	NC_000002.11:g.179443597G>A	(Likely) benign	1 lab	84352b3a81
11:59633895 TCN1 A>G	11	59633895	59633895	A	G	TCN1	c.49T>C	NM_001062.4	NP_001053.2:p.(Phe17Leu)	NC_000011.9:g.59633895A>G	(Likely) benign	1 lab	8439f65f29
19:6496241 TUBB4A G>A	19	6496241	6496241	G	A	TUBB4A	c.278-9C>T	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6496241G>A	(Likely) benign	1 lab	843d8831ef
20:6759466 BMP2 C>T	20	6759466	6759466	C	T	BMP2	c.921C>T	NM_001200.3	NP_001191.1:p.(Asp307=)	NC_000020.10:g.6759466C>T	(Likely) benign	1 lab	843f4b7abb
3:44943164 TGM4 G>A	3	44943164	44943164	G	A	TGM4	c.806G>A	NM_003241.3	NP_003232.2:p.(Trp269Ter)	NC_000003.11:g.44943164G>A	VUS	1 lab	843ff4e2c6
22:20024484 TANGO2 G>A	22	20024484	20024484	G	A	TANGO2	c.46G>A	NM_001322141.1	NP_001309070.1:p.(Gly16Arg)	NC_000022.10:g.20024484G>A	VUS	1 lab	844019a971
14:58917391 KIAA0586 A>G	14	58917391	58917391	A	G	KIAA0586	c.1056A>G	NM_001329944.1	NP_001316873.1:p.(Ser352=)	NC_000014.8:g.58917391A>G	(Likely) benign	1 lab	84422cd48d
14:51221456 NIN T>C	14	51221456	51221456	T	C	NIN	c.4664+4A>G	NM_020921.3	NP_065972.3:p.?	NC_000014.8:g.51221456T>C	VUS	1 lab	84425a4d6b
6:170169678 ERMARD A>G	6	170169678	170169678	A	G	ERMARD	c.1102A>G	NM_018341.2	NP_060811.1:p.(Ile368Val)	NC_000006.11:g.170169678A>G	VUS	1 lab	84432068bc
10:94393456 KIF11 A>C	10	94393456	94393456	A	C	KIF11	c.1779A>C	NM_004523.3	NP_004514.2:p.(Pro593=)	NC_000010.10:g.94393456A>C	(Likely) benign	1 lab	8444784b39
15:55527122 RAB27A C>A	15	55527122	55527122	C	A	RAB27A	c.11G>T	NM_004580.4	NP_004571.2:p.(Gly4Val)	NC_000015.9:g.55527122C>A	VUS	1 lab	84455a3151
19:1056169 ABCA7 G>A	19	1056169	1056169	G	A	ABCA7	c.4343G>A	NM_019112.3	NP_061985.2:p.(Gly1448Asp)	NC_000019.9:g.1056169G>A	(Likely) benign	1 lab	8446a326b1
9:101910051 TGFBR1 A>C	9	101910051	101910051	A	C	TGFBR1	c.1383A>C	NM_001306210.1	NP_001293139.1:p.(Arg461Ser)	NC_000009.11:g.101910051A>C	VUS	1 lab	844700103d
3:111765830 TMPRSS7 G>A	3	111765830	111765830	G	A	TMPRSS7	c.290G>A	NM_001366279.1	NP_001353208.1:p.(Arg97Gln)	NC_000003.11:g.111765830G>A	(Likely) benign	1 lab	84476b05fb
16:88788741 PIEZO1 C>T	16	88788741	88788741	C	T	PIEZO1	c.4840G>A	NM_001142864.4	NP_001136336.2:p.(Gly1614Ser)	NC_000016.9:g.88788741C>T	VUS	1 lab	8449741153
18:42281395 SETBP1 A>AGCTGCTCCTG	18	42281395	42281409	A	AGCTGCTCCTG	SETBP1	c.89_98dup	NM_015559.3	NP_056374.2:p.(Ala34SerfsTer32)	NC_000018.9:g.42281400_42281409dup	(Likely) pathogenic	1 lab	844b32ae33
7:33397472 BBS9 C>T	7	33397472	33397472	C	T	BBS9	c.1285C>T	NM_001348038.2	NP_001334967.1:p.(Pro429Ser)	NC_000007.13:g.33397472C>T	VUS	1 lab	844b61952c
12:46246396 ARID2 C>T	12	46246396	46246396	C	T	ARID2	c.4490C>T	NM_152641.3	NP_689854.2:p.(Pro1497Leu)	NC_000012.11:g.46246396C>T	VUS	1 lab	844e2290b3
7:103338442 RELN C>T	7	103338442	103338442	C	T	RELN	c.1001G>A	NM_005045.3	NP_005036.2:p.(Arg334His)	NC_000007.13:g.103338442C>T	(Likely) benign	1 lab	844f3c5991
1:8420986 RERE G>GCCCA	1	8420986	8420990	G	GCCCA	RERE	c.2577_2580dup	NM_012102.4	NP_036234.3:p.(Pro861TrpfsTer243)	NC_000001.10:g.8420987_8420990dup	(Likely) pathogenic	1 lab	faf1383a49
8:131128940 ASAP1 G>C	8	131128940	131128940	G	C	ASAP1	c.2027C>G	NM_001247996.1	NP_001234925.1:p.(Thr676Ser)	NC_000008.10:g.131128940G>C	(Likely) benign	1 lab	8453605e2b
9:13119590 MPDZ C>T	9	13119590	13119590	C	T	MPDZ	c.5290G>A	NM_003829.4	NP_003820.2:p.(Gly1764Arg)	NC_000009.11:g.13119590C>T	VUS	1 lab	84538d1d04
17:5445190 NLRP1 G>C	17	5445190	5445190	G	C	NLRP1	c.2686C>G	NM_033004.4	NP_127497.1:p.(Leu896Val)	NC_000017.10:g.5445190G>C	VUS	1 lab	845719332e
X:77264625 ATP7A C>T	X	77264625	77264625	C	T	ATP7A	c.1734C>T	NM_000052.6	NP_000043.4:p.(Cys578=)	NC_000023.10:g.77264625C>T	(Likely) benign	1 lab	845743b019
1:2434017 PLCH2 C>T	1	2434017	2434017	C	T	PLCH2	c.3047C>T	NM_001303012.1	NP_001289941.1:p.(Pro1016Leu)	NC_000001.10:g.2434017C>T	(Likely) benign	1 lab	8458adeb78
1:120484197 NOTCH2 C>G	1	120484197	120484197	C	G	NOTCH2	c.2933G>C	NM_024408.3	NP_077719.2:p.(Gly978Ala)	NC_000001.10:g.120484197C>G	VUS	1 lab	84598b37e6
8:145738482 RECQL4 C>T	8	145738482	145738482	C	T	RECQL4	c.2503G>A	NM_004260.3	NP_004251.3:p.(Asp835Asn)	NC_000008.10:g.145738482C>T	(Likely) benign	1 lab	845a998554
3:130287019 COL6A6 C>G	3	130287019	130287019	C	G	COL6A6	c.1972C>G	NM_001102608.2	NP_001096078.1:p.(Arg658Gly)	NC_000003.11:g.130287019C>G	VUS	1 lab	84604f6b56
9:135802649 TSC1 A>G	9	135802649	135802649	A	G	TSC1	c.149T>C	NM_000368.4	NP_000359.1:p.(Leu50Pro)	NC_000009.11:g.135802649A>G	(Likely) pathogenic	1 lab	8461d053b8
11:121454186 SORL1 G>C	11	121454186	121454186	G	C	SORL1	c.3600G>C	NM_003105.5	NP_003096.1:p.(Glu1200Asp)	NC_000011.9:g.121454186G>C	VUS	1 lab	8461d5612a
X:138908960 ATP11C ACTCGTTTCT>A	X	138908960	138908971	ACTCGTTTCT	A	ATP11C	c.41_49del	NM_001353812.2	NP_001340741.2:p.(Glu14_Arg16del)	NC_000023.10:g.138908963_138908971del	VUS	1 lab	846277c428
20:33588204 MYH7B C>T	20	33588204	33588204	C	T	MYH7B	c.5016C>T	NM_020884.4	NP_065935.3:p.(Asn1672=)	NC_000020.10:g.33588204C>T	(Likely) benign	1 lab	8462cb2ab0
2:27676887 IFT172 G>A	2	27676887	27676887	G	A	IFT172	c.3673C>T	NM_015662.2	NP_056477.1:p.(Arg1225Trp)	NC_000002.11:g.27676887G>A	VUS	1 lab	8463bfc794
18:61018142 KDSR C>CGATT	18	61018142	61018143	C	CGATT	KDSR	c.587_588insAATC	NM_002035.4	NP_002026.1:p.(Ala197IlefsTer13)	NC_000018.9:g.61018142_61018143insGATT	(Likely) pathogenic	1 lab	8464f13b6b
9:133755543 ABL1 C>T	9	133755543	133755543	C	T	ABL1	c.1569C>T	NM_007313.2	NP_009297.2:p.(Asp523=)	NC_000009.11:g.133755543C>T	(Likely) benign	1 lab	8465837c09
X:152960008 SLC6A8 G>A	X	152960008	152960008	G	A	SLC6A8	c.1516G>A	NM_005629.3	NP_005620.1:p.(Asp506Asn)	NC_000023.10:g.152960008G>A	(Likely) benign	1 lab	8466590ce1
19:49686363 TRPM4 C>T	19	49686363	49686363	C	T	TRPM4	c.1637C>T	NM_017636.3	NP_060106.2:p.(Ser546Leu)	NC_000019.9:g.49686363C>T	(Likely) benign	1 lab	84667575cf
14:23345918 LRP10 G>A	14	23345918	23345918	G	A	LRP10	c.1445G>A	NM_014045.4	NP_054764.2:p.(Arg482Gln)	NC_000014.8:g.23345918G>A	VUS	1 lab	8467b74790
12:2027442 CACNA2D4 C>T	12	2027442	2027442	C	T	CACNA2D4	c.198G>A	NM_172364.4	NP_758952.4:p.(Ala66=)	NC_000012.11:g.2027442C>T	(Likely) benign	1 lab	846909a8f0
14:91780499 CCDC88C G>A	14	91780499	91780499	G	A	CCDC88C	c.1666-5C>T	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91780499G>A	(Likely) benign	1 lab	846a70fc8c
5:127681230 FBN2 G>A	5	127681230	127681230	G	A	FBN2	c.3036C>T	NM_001999.3	NP_001990.2:p.(Cys1012=)	NC_000005.9:g.127681230G>A	(Likely) benign	1 lab	846ad8a1ea
8:19263390 CSGALNACT1 G>A	8	19263390	19263390	G	A	CSGALNACT1	c.1500C>T	NM_001354491.1	NP_001341420.1:p.(Asn500=)	NC_000008.10:g.19263390G>A	(Likely) benign	1 lab	846b423d4f
3:164748500 SI C>T	3	164748500	164748500	C	T	SI	c.2892G>A	NM_001041.3	NP_001032.2:p.(Thr964=)	NC_000003.11:g.164748500C>T	(Likely) benign	1 lab	846d6eaa47
13:51503677 RNASEH2B A>G	13	51503677	51503677	A	G	RNASEH2B	c.203A>G	NM_001142279.2	NP_001135751.1:p.(Glu68Gly)	NC_000013.10:g.51503677A>G	VUS	1 lab	8472b8f709
15:62254613 VPS13C C>G	15	62254613	62254613	C	G	VPS13C	c.3560G>C	NM_001018088.2	NP_001018098.1:p.(Cys1187Ser)	NC_000015.9:g.62254613C>G	VUS	1 lab	8473b80613
9:123280798 CDK5RAP2 C>T	9	123280798	123280798	C	T	CDK5RAP2	c.1218G>A	NM_018249.5	NP_060719.4:p.(Gln406=)	NC_000009.11:g.123280798C>T	(Likely) benign	1 lab	8473ff6b9f
6:33631519 ITPR3 C>T	6	33631519	33631519	C	T	ITPR3	c.1010C>T	NM_002224.3	NP_002215.2:p.(Ala337Val)	NC_000006.11:g.33631519C>T	(Likely) benign	1 lab	8476ee5d80
18:59763160 PIGN G>A	18	59763160	59763160	G	A	PIGN	c.2101C>T	NM_176787.4	NP_789744.1:p.(Leu701=)	NC_000018.9:g.59763160G>A	(Likely) benign	1 lab	84788689c2
7:66459269 SBDS C>G	7	66459269	66459269	C	G	SBDS	c.188G>C	NM_016038.4	NP_057122.2:p.(Gly63Ala)	NC_000007.13:g.66459269C>G	VUS	1 lab	fbfb2213f2
10:48389247 RBP3 C>T	10	48389247	48389247	C	T	RBP3	c.1631G>A	NM_002900.2	NP_002891.1:p.(Arg544His)	NC_000010.10:g.48389247C>T	(Likely) benign	1 lab	8478f8fce0
6:24651043 TDP2 A>C	6	24651043	24651043	A	C	TDP2	c.1062T>G	NM_016614.2	NP_057698.2:p.(Leu354=)	NC_000006.11:g.24651043A>C	(Likely) benign	1 lab	847976ac9d
11:71952305 PHOX2A G>A	11	71952305	71952305	G	A	PHOX2A	c.246C>T	NM_005169.3	NP_005160.2:p.(Ser82=)	NC_000011.9:g.71952305G>A	(Likely) benign	1 lab	8479b856cb
19:17013581 MISSING C>T	19	17013581	17013581	C	T	MISSING				NC_000019.9:g.17013581C>T	(Likely) benign	1 lab	84d57cc0a7
17:36709067 SRCIN1 C>A	17	36709067	36709067	C	A	SRCIN1	c.2226G>T	NM_025248.3	NP_079524.2:p.(Lys742Asn)	NC_000017.10:g.36709067C>A	VUS	1 lab	847b27d6ba
12:121947516 KDM2B C>G	12	121947516	121947516	C	G	KDM2B	c.1501G>C	NM_032590.5	NP_115979.3:p.(Glu501Gln)	NC_000012.11:g.121947516C>G	VUS	1 lab	faf3fcac45
12:114832622 TBX5 G>T	12	114832622	114832622	G	T	TBX5	c.587C>A	NM_000192.3	NP_000183.2:p.(Ser196Ter)	NC_000012.11:g.114832622G>T	(Likely) pathogenic	1 lab	847c52f0ad
5:132270177 AFF4 G>T	5	132270177	132270177	G	T	AFF4	c.580C>A	NM_014423.4	NP_055238.1:p.(His194Asn)	NC_000005.9:g.132270177G>T	VUS	1 lab	faf67d60b2
18:44184189 LOXHD1 C>A	18	44184189	44184189	C	A	LOXHD1	c.763G>T	NM_144612.6	NP_653213.6:p.(Val255Phe)	NC_000018.9:g.44184189C>A	VUS	1 lab	847d58939e
13:100637710 ZIC2 C>T	13	100637710	100637710	C	T	ZIC2	c.1373C>T	NM_007129.4	NP_009060.2:p.(Ala458Val)	NC_000013.10:g.100637710C>T	(Likely) benign	1 lab	847df9ce76
17:29687848 NF1 CTTT>C	17	29687848	29687851	CTTT	C	NF1	c.8377+128_8377+130del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29687849_29687851del	(Likely) benign	1 lab	847f0f27ab
11:197345 CIMAP1A G>A	11	197345	197345	G	A	CIMAP1A	c.41G>A	NM_053280.4	NP_444510.2:p.(Arg14His)	NC_000011.9:g.197345G>A	(Likely) benign	1 lab	847f7ba7e7
11:64595044 CDC42BPG C>G	11	64595044	64595044	C	G	CDC42BPG	c.4105G>C	NM_017525.3	NP_059995.2:p.(Gly1369Arg)	NC_000011.9:g.64595044C>G	VUS	1 lab	848220535c
11:76826479 CAPN5 C>T	11	76826479	76826479	C	T	CAPN5	c.738C>T	NM_004055.4	NP_004046.2:p.(Cys246=)	NC_000011.9:g.76826479C>T	(Likely) benign	1 lab	8482222c8b
17:2966746 OR1D5 A>G	17	2966746	2966746	A	G	OR1D5	c.156T>C	NM_014566.1	NP_055381.1:p.(Asp52=)	NC_000017.10:g.2966746A>G	(Likely) benign	1 lab	84822dfd23
2:179427186 TTN A>G	2	179427186	179427186	A	G	TTN	c.83673T>C	NM_001267550.1	NP_001254479.1:p.(Gly27891=)	NC_000002.11:g.179427186A>G	(Likely) benign	1 lab	8483ba4097
10:97620290 ENTPD1 A>G	10	97620290	97620290	A	G	ENTPD1	c.1139A>G	NM_001776.6	NP_001767.3:p.(Glu380Gly)	NC_000010.10:g.97620290A>G	(Likely) benign	1 lab	8484aa1fa8
11:3846253 PGAP2 C>T	11	3846253	3846253	C	T	PGAP2	c.527C>T	NM_001346401.1	NP_001333330.1:p.(Ser176Leu)	NC_000011.9:g.3846253C>T	VUS	1 lab	848a72a1e0
7:6474437 DAGLB C>G	7	6474437	6474437	C	G	DAGLB	c.634G>C	NM_139179.4	NP_631918.3:p.(Val212Leu)	NC_000007.13:g.6474437C>G	VUS	1 lab	848af5650c
11:119170326 CBL C>T	11	119170326	119170326	C	T	CBL	c.2556C>T	NM_005188.3	NP_005179.2:p.(Thr852=)	NC_000011.9:g.119170326C>T	(Likely) benign	1 lab	848bfd0128
2:31756475 SRD5A2 C>G	2	31756475	31756475	C	G	SRD5A2	c.513G>C	NM_000348.3	NP_000339.2:p.(Arg171Ser)	NC_000002.11:g.31756475C>G	VUS	1 lab	848cda3fc8
3:195965679 PCYT1A G>A	3	195965679	195965679	G	A	PCYT1A	c.984C>T	NM_001312673.2	NP_001299602.1:p.(Arg328=)	NC_000003.11:g.195965679G>A	(Likely) benign	1 lab	848d1d415a
13:103498689 ERCC5 A>G	13	103498689	103498689	A	G	ERCC5	c.73A>G	NM_000123.3	NP_000114.2:p.(Lys25Glu)	NC_000013.10:g.103498689A>G	VUS	1 lab	848dff6f1c
3:52392013 DNAH1 C>G	3	52392013	52392013	C	G	DNAH1	c.4080C>G	NM_015512.4	NP_056327.4:p.(Ile1360Met)	NC_000003.11:g.52392013C>G	VUS	1 lab	848eb9772a
17:72350567 KIF19 G>A	17	72350567	72350567	G	A	KIF19	c.2575G>A	NM_153209.4	NP_694941.2:p.(Gly859Arg)	NC_000017.10:g.72350567G>A	VUS	1 lab	848ee78c00
X:153137713 L1CAM C>A	X	153137713	153137713	C	A	L1CAM	c.294G>T	NM_001278116.1	NP_001265045.1:p.(Thr98=)	NC_000023.10:g.153137713C>A	(Likely) benign	1 lab	84900e8570
10:31815907 ZEB1 G>A	10	31815907	31815907	G	A	ZEB1	c.2436G>A	NM_001323638.1	NP_001310567.1:p.(Arg812=)	NC_000010.10:g.31815907G>A	(Likely) benign	1 lab	84901ae2fd
X:117582914 WDR44 C>G	X	117582914	117582914	C	G	WDR44	c.2706C>G	NM_019045.4	NP_061918.3:p.(Ile902Met)	NC_000023.10:g.117582914C>G	VUS	1 lab	84911d7db5
16:89212460 ACSF3 A>C	16	89212460	89212460	A	C	ACSF3	c.1613+3A>C	NM_001243279.2	NP_001230208.1:p.?	NC_000016.9:g.89212460A>C	VUS	1 lab	8492b48ca9
2:179397584 TTN T>A	2	179397584	179397584	T	A	TTN	c.103758A>T	NM_001267550.2	NP_001254479.2:p.(Arg34586Ser)	NC_000002.11:g.179397584T>A	(Likely) benign	1 lab	faf9ed1f81
13:20660007 ZMYM2 AGAATGCTC>A	13	20660007	20660015	AGAATGCTC	A	ZMYM2	c.3988_3995del	NM_197968.4	NP_932072.1:p.(Glu1330Ter)	NC_000013.10:g.20660008_20660015del	VUS	1 lab	8495b94fd3
9:35735103 CREB3 C>A	9	35735103	35735103	C	A	CREB3	c.436-3C>A	NM_006368.4	NP_006359.3:p.?	NC_000009.11:g.35735103C>A	(Likely) benign	1 lab	84984dcf78
2:197184267 HECW2 ACTC>A	2	197184267	197184273	ACTC	A	HECW2	c.1344_1346del	NM_001348768.2	NP_001335697.1:p.(Arg448del)	NC_000002.11:g.197184271_197184273del	VUS	1 lab	8498a4639a
18:44118208 LOXHD1 C>A	18	44118208	44118208	C	A	LOXHD1	c.4006G>T	NM_144612.6	NP_653213.6:p.(Val1336Leu)	NC_000018.9:g.44118208C>A	VUS	1 lab	8499e6b163
14:51224249 NIN C>T	14	51224249	51224249	C	T	NIN	c.3499G>A	NM_020921.3	NP_065972.3:p.(Glu1167Lys)	NC_000014.8:g.51224249C>T	(Likely) benign	1 lab	849a5cf2a3
6:33408631 SYNGAP1 C>G	6	33408631	33408631	C	G	SYNGAP1	c.1802C>G	NM_006772.2	NP_006763.2:p.(Ala601Gly)	NC_000006.11:g.33408631C>G	VUS	1 lab	849d3170dc
15:56387497 RFX7 T>C	15	56387497	56387497	T	C	RFX7	c.2429A>G	NM_022841.5	NP_073752.5:p.(His810Arg)	NC_000015.9:g.56387497T>C	(Likely) benign	1 lab	849d9b9bbb
X:32481609 DMD G>C	X	32481609	32481609	G	C	DMD	c.3010C>G	NM_004010.3	NP_004001.1:p.(Leu1004Val)	NC_000023.10:g.32481609G>C	VUS	1 lab	849e3189a3
17:29559061 NF1 ATTT>A	17	29559061	29559087	ATTT	A	NF1	c.3198-6_3198-4del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559085_29559087del	(Likely) benign	1 lab	849f0fb304
3:49569093 DAG1 C>A	3	49569093	49569093	C	A	DAG1	c.1149C>A	NM_001165928.3	NP_001159400.2:p.(Gly383=)	NC_000003.11:g.49569093C>A	(Likely) benign	1 lab	84a01f27ea
11:118376922 KMT2A G>A	11	118376922	118376922	G	A	KMT2A	c.10315G>A	NM_001197104.1	NP_001184033.1:p.(Gly3439Ser)	NC_000011.9:g.118376922G>A	VUS	1 lab	84a0837d4a
9:126139322 CRB2 C>T	9	126139322	126139322	C	T	CRB2	c.3839C>T	NM_173689.6	NP_775960.4:p.(Pro1280Leu)	NC_000009.11:g.126139322C>T	VUS	1 lab	84a4703e36
5:13914059 DNAH5 C>T	5	13914059	13914059	C	T	DNAH5	c.1329G>A	NM_001369.2	NP_001360.1:p.(Gln443=)	NC_000005.9:g.13914059C>T	(Likely) benign	1 lab	84a62c98c8
20:56139268 PCK1 C>T	20	56139268	56139268	C	T	PCK1	c.1005C>T	NM_002591.3	NP_002582.3:p.(Val335=)	NC_000020.10:g.56139268C>T	(Likely) benign	1 lab	84a6b6338c
5:76709054 PDE8B T>G	5	76709054	76709054	T	G	PDE8B	c.1459T>G	NM_001349753.1	NP_001336682.1:p.(Ser487Ala)	NC_000005.9:g.76709054T>G	VUS	1 lab	84a7c392b5
17:48653108 CACNA1G C>T	17	48653108	48653108	C	T	CACNA1G	c.1345C>T	NM_018896.4	NP_061496.2:p.(Arg449Cys)	NC_000017.10:g.48653108C>T	VUS	1 lab	84a7fb7cae
14:76447004 TGFB3 TC>T	14	76447004	76447007	TC	T	TGFB3	c.232del	NM_003239.5	NP_003230.1:p.(Glu78SerfsTer33)	NC_000014.8:g.76447007del	(Likely) pathogenic	1 lab	84a838fdea
X:54011446 PHF8 G>A	X	54011446	54011446	G	A	PHF8	c.2344C>T	NM_015107.2	NP_055922.1:p.(Arg782Trp)	NC_000023.10:g.54011446G>A	VUS	1 lab	84aa1b7ef9
7:138537002 KIAA1549 T>C	7	138537002	138537002	T	C	KIAA1549	c.5261A>G	NM_001164665.1	NP_001158137.1:p.(Tyr1754Cys)	NC_000007.13:g.138537002T>C	VUS	1 lab	84acc539bf
13:42623051 DGKH C>T	13	42623051	42623051	C	T	DGKH	c.142C>T	NM_178009.4	NP_821077.1:p.(Pro48Ser)	NC_000013.10:g.42623051C>T	VUS	1 lab	84acdae0b3
1:240370923 FMN2 A>T	1	240370923	240370923	A	T	FMN2	c.2811A>T	NM_020066.5	NP_064450.3:p.(Leu937=)	NC_000001.10:g.240370923A>T	(Likely) benign	1 lab	84acee83c9
8:27633049 ESCO2 A>G	8	27633049	27633049	A	G	ESCO2	c.18A>G	NM_001017420.2	NP_001017420.1:p.(Pro6=)	NC_000008.10:g.27633049A>G	(Likely) benign	1 lab	84ad003c27
7:21677278 DNAH11 G>T	7	21677278	21677278	G	T	DNAH11				NC_000007.13:g.21677278G>T	VUS	1 lab	84ad780362
10:94397060 KIF11 C>T	10	94397060	94397060	C	T	KIF11	c.1995C>T	NM_004523.3	NP_004514.2:p.(Ala665=)	NC_000010.10:g.94397060C>T	(Likely) benign	1 lab	84af915574
5:138658452 MATR3 T>G	5	138658452	138658452	T	G	MATR3	c.1944T>G	NM_199189.2	NP_954659.1:p.(Pro648=)	NC_000005.9:g.138658452T>G	(Likely) benign	1 lab	84b061ccb3
19:12774251 MAN2B1 C>T	19	12774251	12774251	C	T	MAN2B1	c.789G>A	NM_000528.3	NP_000519.2:p.(Pro263=)	NC_000019.9:g.12774251C>T	(Likely) benign	1 lab	84b0f83ac3
17:29546032 NF1 A>T	17	29546032	29546032	A	T	NF1	c.1537A>T	NM_000267.3	NP_000258.1:p.(Lys513Ter)	NC_000017.10:g.29546032A>T	(Likely) pathogenic	1 lab	84b1f0049f
1:24408554 MYOM3 A>G	1	24408554	24408554	A	G	MYOM3	c.2217T>C	NM_152372.4	NP_689585.3:p.(His739=)	NC_000001.10:g.24408554A>G	(Likely) benign	1 lab	84b4075073
14:105414672 AHNAK2 G>A	14	105414672	105414672	G	A	AHNAK2	c.7116C>T	NM_138420.3	NP_612429.2:p.(Ser2372=)	NC_000014.8:g.105414672G>A	(Likely) benign	1 lab	84b44b50f9
4:122766795 BBS7 T>A	4	122766795	122766795	T	A	BBS7	c.1094A>T	NM_176824.2	NP_789794.1:p.(Gln365Leu)	NC_000004.11:g.122766795T>A	VUS	1 lab	84b568e5f8
2:179639671 TTN G>A	2	179639671	179639671	G	A	TTN	c.6767C>T	NM_001267550.2	NP_001254479.2:p.(Thr2256Met)	NC_000002.11:g.179639671G>A	VUS	1 lab	fafc8c8d21
9:2651967 VLDLR C>T	9	2651967	2651967	C	T	VLDLR	c.2416+13C>T	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2651967C>T	(Likely) benign	1 lab	84bda5e292
10:135369392 SYCE1 G>A	10	135369392	135369392	G	A	SYCE1	c.611C>T	NM_001143763.1	NP_001137235.1:p.(Ala204Val)	NC_000010.10:g.135369392G>A	VUS	1 lab	84be754421
8:10464828 RP1L1 G>T	8	10464828	10464828	G	T	RP1L1	c.6780C>A	NM_178857.5	NP_849188.4:p.(Gly2260=)	NC_000008.10:g.10464828G>T	(Likely) benign	1 lab	84bef363e9
X:70598226 TAF1 G>C	X	70598226	70598226	G	C	TAF1	c.1135G>C	NM_001286074.1	NP_001273003.1:p.(Asp379His)	NC_000023.10:g.70598226G>C	VUS	1 lab	84bef7d61d
16:2141104 PKD1 C>A	16	2141104	2141104	C	A	PKD1	c.11784G>T	NM_001009944.2	NP_001009944.2:p.(Trp3928Cys)	NC_000016.9:g.2141104C>A	(Likely) benign	1 lab	84bf71ff6c
7:4829564 AP5Z1 G>C	7	4829564	4829564	G	C	AP5Z1	c.1805+4G>C	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4829564G>C	(Likely) benign	1 lab	84bfeb0fe1
16:77331315 ADAMTS18 G>T	16	77331315	77331315	G	T	ADAMTS18	c.2159-3C>A	NM_001326358.1	NP_001313287.1:p.?	NC_000016.9:g.77331315G>T	VUS	1 lab	84c06219b8
X:54521732 FGD1 C>T	X	54521732	54521732	C	T	FGD1	c.134G>A	NM_004463.2	NP_004454.2:p.(Arg45His)	NC_000023.10:g.54521732C>T	(Likely) benign	1 lab	84c078b2f7
X:54335555 WNK3 G>A	X	54335555	54335555	G	A	WNK3	c.904C>T	NM_020922.4	NP_065973.2:p.(Arg302Cys)	NC_000023.10:g.54335555G>A	VUS	1 lab	84c2a4fcaa
3:129291574 PLXND1 G>T	3	129291574	129291574	G	T	PLXND1	c.2955C>A	NM_015103.2	NP_055918.2:p.(Ser985=)	NC_000003.11:g.129291574G>T	(Likely) benign	1 lab	84c4cdc367
14:75230865 YLPM1 T>C	14	75230865	75230865	T	C	YLPM1	c.673T>C	NM_019589.3	NP_062535.2:p.(Leu225=)	NC_000014.8:g.75230865T>C	(Likely) benign	1 lab	84c52295d4
X:152821659 ATP2B3 C>T	X	152821659	152821659	C	T	ATP2B3	c.2211C>T	NM_021949.3	NP_068768.2:p.(Asn737=)	NC_000023.10:g.152821659C>T	(Likely) benign	1 lab	84c53e030b
X:152815187 ATP2B3 C>G	X	152815187	152815187	C	G	ATP2B3	c.1571C>G	NM_021949.3	NP_068768.2:p.(Thr524Ser)	NC_000023.10:g.152815187C>G	(Likely) benign	1 lab	84c60df0d3
17:72915959 USH1G A>G	17	72915959	72915959	A	G	USH1G	c.972T>C	NM_173477.4	NP_775748.2:p.(Ser324=)	NC_000017.10:g.72915959A>G	(Likely) benign	1 lab	84c7129014
2:179583542 TTN C>T	2	179583542	179583542	C	T	TTN	c.24385G>A	NM_001267550.2	NP_001254479.2:p.(Glu8129Lys)	NC_000002.11:g.179583542C>T	VUS	1 lab	faff393169
1:226044419 TMEM63A A>G	1	226044419	226044419	A	G	TMEM63A	c.1505T>C	NM_014698.3	NP_055513.2:p.(Met502Thr)	NC_000001.10:g.226044419A>G	(Likely) benign	1 lab	faff77f648
4:120085436 MYOZ2 A>T	4	120085436	120085436	A	T	MYOZ2	c.447A>T	NM_016599.4	NP_057683.1:p.(Gln149His)	NC_000004.11:g.120085436A>T	VUS	1 lab	84cacc9c7f
7:33195273 BBS9 C>G	7	33195273	33195273	C	G	BBS9	c.14C>G	NM_001348038.2	NP_001334967.1:p.(Ala5Gly)	NC_000007.13:g.33195273C>G	VUS	1 lab	84cb90fa43
11:1092853 MISSING C>A	11	1092853	1092853	C	A	MISSING				NC_000011.9:g.1092853C>A	(Likely) benign	1 lab	84cbabb191
19:4442325 CHAF1A C>G	19	4442325	4442325	C	G	CHAF1A	c.2757C>G	NM_005483.3	NP_005474.2:p.(Val919=)	NC_000019.9:g.4442325C>G	(Likely) benign	1 lab	84cce1c57f
11:2682082 KCNQ1OT1 C>T	11	2682082	2682082	C	T	KCNQ1OT1	n.39147G>A	NR_002728.3		NC_000011.9:g.2682082C>T	VUS	1 lab	fb00cc13f8
1:205039138 CNTN2 C>T	1	205039138	205039138	C	T	CNTN2	c.2380C>T	NM_005076.4	NP_005067.1:p.(Arg794Cys)	NC_000001.10:g.205039138C>T	VUS	1 lab	84d1b4471e
10:465027 DIP2C G>A	10	465027	465027	G	A	DIP2C	c.717C>T	NM_014974.3	NP_055789.1:p.(Ala239=)	NC_000010.10:g.465027G>A	(Likely) benign	1 lab	84d212a598
2:15378739 NBAS T>C	2	15378739	15378739	T	C	NBAS	c.5796A>G	NM_015909.3	NP_056993.2:p.(Pro1932=)	NC_000002.11:g.15378739T>C	(Likely) benign	1 lab	84d4381fef
13:39447067 FREM2 T>A	13	39447067	39447067	T	A	FREM2	c.8172T>A	NM_207361.5	NP_997244.4:p.(Leu2724=)	NC_000013.10:g.39447067T>A	(Likely) benign	1 lab	84d46c45c8
6:33411039 SYNGAP1 A>G	6	33411039	33411039	A	G	SYNGAP1	c.2710A>G	NM_006772.3	NP_006763.2:p.(Met904Val)	NC_000006.11:g.33411039A>G	(Likely) benign	1 lab	fb00cca420
1:237777378 RYR2 G>T	1	237777378	237777378	G	T	RYR2	c.4950G>T	NM_001035.2	NP_001026.2:p.(Leu1650Phe)	NC_000001.10:g.237777378G>T	VUS	1 lab	84d63ce092
X:41000618 USP9X A>G	X	41000618	41000618	A	G	USP9X	c.1095A>G	NM_001039591.3	NP_001034680.2:p.(Val365=)	NC_000023.10:g.41000618A>G	(Likely) benign	1 lab	84d6ff77a4
5:132270640 AFF4 AAAAAT>A	5	132270640	132270660	AAAAAT	A	AFF4	c.124-12_124-8del	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132270656_132270660del	(Likely) benign	1 lab	84d8772991
11:134253607 B3GAT1 G>A	11	134253607	134253607	G	A	B3GAT1	c.588C>T	NM_054025.3	NP_473366.1:p.(Asp196=)	NC_000011.9:g.134253607G>A	(Likely) benign	1 lab	84dbbf9005
15:28446614 HERC2 T>C	15	28446614	28446614	T	C	HERC2	c.7704A>G	NM_004667.5	NP_004658.3:p.(Arg2568=)	NC_000015.9:g.28446614T>C	(Likely) benign	1 lab	84dbeb7f99
20:15948230 MACROD2 G>C	20	15948230	15948230	G	C	MACROD2	c.940G>C	NM_001351661.1	NP_001338590.1:p.(Gly314Arg)	NC_000020.10:g.15948230G>C	(Likely) benign	1 lab	84dc93dcac
15:28473437 HERC2 G>A	15	28473437	28473437	G	A	HERC2	c.5391C>T	NM_004667.5	NP_004658.3:p.(His1797=)	NC_000015.9:g.28473437G>A	(Likely) benign	1 lab	84dd10a523
9:117788933 TNC C>T	9	117788933	117788933	C	T	TNC	c.6211G>A	NM_002160.3	NP_002151.2:p.(Glu2071Lys)	NC_000009.11:g.117788933C>T	VUS	1 lab	84dd8cfb68
1:38019657 SNIP1 G>T	1	38019657	38019657	G	T	SNIP1	c.174C>A	NM_024700.3	NP_078976.2:p.(Ser58Arg)	NC_000001.10:g.38019657G>T	(Likely) benign	1 lab	84ddfd7be1
17:1578923 PRPF8 A>G	17	1578923	1578923	A	G	PRPF8	c.2863T>C	NM_006445.3	NP_006436.3:p.(Trp955Arg)	NC_000017.10:g.1578923A>G	VUS	1 lab	84de97460c
1:20966410 PINK1 T>C	1	20966410	20966410	T	C	PINK1	c.701T>C	NM_032409.2	NP_115785.1:p.(Leu234Ser)	NC_000001.10:g.20966410T>C	VUS	1 lab	84debc93cb
6:87969876 ZNF292 A>G	6	87969876	87969876	A	G	ZNF292	c.6529A>G	NM_015021.3	NP_055836.1:p.(Ser2177Gly)	NC_000006.11:g.87969876A>G	VUS	1 lab	fb0547eb1c
1:12343493 VPS13D T>A	1	12343493	12343493	T	A	VPS13D	c.5334T>A	NM_015378.4	NP_056193.2:p.(Ser1778Arg)	NC_000001.10:g.12343493T>A	VUS	1 lab	84e127f880
X:47088029 CDK16 C>T	X	47088029	47088029	C	T	CDK16	c.1457C>T	NM_033018.3	NP_148978.2:p.(Ser486Leu)	NC_000023.10:g.47088029C>T	(Likely) benign	1 lab	84e1991490
17:32953993 TMEM132E C>T	17	32953993	32953993	C	T	TMEM132E	c.915C>T	NM_001304438.1	NP_001291367.1:p.(Pro305=)	NC_000017.10:g.32953993C>T	(Likely) benign	1 lab	84e238dc79
10:17061942 CUBN A>T	10	17061942	17061942	A	T	CUBN	c.4058T>A	NM_001081.3	NP_001072.2:p.(Val1353Glu)	NC_000010.10:g.17061942A>T	(Likely) benign	1 lab	84e2fce017
8:55540108 RP1 G>A	8	55540108	55540108	G	A	RP1	c.3666G>A	NM_006269.1	NP_006260.1:p.(Lys1222=)	NC_000008.10:g.55540108G>A	(Likely) benign	1 lab	84e30dc10d
13:46946252 RUBCNL G>A	13	46946252	46946252	G	A	RUBCNL	c.359C>T	NM_025113.4	NP_079389.2:p.(Ser120Leu)	NC_000013.10:g.46946252G>A	(Likely) benign	1 lab	84e44b8544
18:43481105 EPG5 C>T	18	43481105	43481105	C	T	EPG5	c.4502G>A	NM_020964.3	NP_066015.2:p.(Arg1501Gln)	NC_000018.9:g.43481105C>T	(Likely) benign	1 lab	84e4f87f8c
19:6826681 VAV1 C>T	19	6826681	6826681	C	T	VAV1	c.886C>T	NM_005428.4	NP_005419.2:p.(Arg296Cys)	NC_000019.9:g.6826681C>T	VUS	1 lab	84e618dd50
1:155270061 PKLR C>A	1	155270061	155270061	C	A	PKLR	c.111G>T	NM_000298.6	NP_000289.1:p.(Gly37=)	NC_000001.10:g.155270061C>A	(Likely) benign	1 lab	84e6ae4d28
19:1912059 ADAT3 TC>T	19	1912059	1912062	TC	T	ADAT3	c.16del	NM_138422.4	NP_612431.2:p.(Arg6ValfsTer10)	NC_000019.9:g.1912062del	VUS	1 lab	fb0580cfd8
16:3100374 MMP25 C>G	16	3100374	3100374	C	G	MMP25	c.488C>G	NM_022468.5	NP_071913.1:p.(Pro163Arg)	NC_000016.9:g.3100374C>G	(Likely) benign	1 lab	84e864bac1
10:17147521 CUBN G>T	10	17147521	17147521	G	T	CUBN	c.1165C>A	NM_001081.4	NP_001072.2:p.(Pro389Thr)	NC_000010.10:g.17147521G>T	(Likely) benign	1 lab	fb0700cb44
X:63410280 AMER1 G>A	X	63410280	63410280	G	A	AMER1	c.2887C>T	NM_152424.4	NP_689637.3:p.(Pro963Ser)	NC_000023.10:g.63410280G>A	(Likely) benign	1 lab	84e900e193
19:14038986 CC2D1A G>C	19	14038986	14038986	G	C	CC2D1A	c.2504G>C	NM_017721.4	NP_060191.3:p.(Arg835Thr)	NC_000019.9:g.14038986G>C	VUS	1 lab	84e9c60cef
19:42777436 CIC C>T	19	42777436	42777436	C	T	CIC	c.1501C>T	NM_001304815.1	NP_001291744.1:p.(Gln501Ter)	NC_000019.9:g.42777436C>T	(Likely) pathogenic	1 lab	84ea6d1b3d
11:108043033 NPAT T>C	11	108043033	108043033	T	C	NPAT	c.2678A>G	NM_001321307.1	NP_001308236.1:p.(Asn893Ser)	NC_000011.9:g.108043033T>C	(Likely) benign	1 lab	84eb61faef
7:143885427 ARHGEF35 A>G	7	143885427	143885427	A	G	ARHGEF35	c.50T>C	NM_001003702.2	NP_001003702.2:p.(Ile17Thr)	NC_000007.13:g.143885427A>G	VUS	1 lab	84eba7b280
1:27436163 SLC9A1 G>A	1	27436163	27436163	G	A	SLC9A1	c.919C>T	NM_003047.4	NP_003038.2:p.(Leu307Phe)	NC_000001.10:g.27436163G>A	(Likely) benign	1 lab	84ec9b9883
1:93029204 EVI5 G>C	1	93029204	93029204	G	C	EVI5	c.2146C>G	NM_001308248.1	NP_001295177.1:p.(His716Asp)	NC_000001.10:g.93029204G>C	(Likely) benign	1 lab	84ef8b35bf
22:40745898 ADSL C>T	22	40745898	40745898	C	T	ADSL	c.216C>T	NM_000026.3	NP_000017.1:p.(Ile72=)	NC_000022.10:g.40745898C>T	(Likely) benign	1 lab	84f0208288
3:127325046 MCM2 G>A	3	127325046	127325046	G	A	MCM2	c.759G>A	NM_004526.3	NP_004517.2:p.(Ala253=)	NC_000003.11:g.127325046G>A	(Likely) benign	1 lab	84f2870f8e
X:153594473 FLNA T>C	X	153594473	153594473	T	C	FLNA	c.1348A>G	NM_001110556.2	NP_001104026.1:p.(Met450Val)	NC_000023.10:g.153594473T>C	(Likely) benign	1 lab	84f33dbf2c
17:29654591 NF1 CATTT>C	17	29654591	29654598	CATTT	C	NF1	c.5347_5350del	NM_001042492.3	NP_001035957.1:p.(Tyr1783MetfsTer10)	NC_000017.10:g.29654595_29654598del	(Likely) pathogenic	1 lab	84f3d0c908
4:3519895 LRPAP1 G>A	4	3519895	3519895	G	A	LRPAP1	c.617C>T	NM_002337.4	NP_002328.1:p.(Pro206Leu)	NC_000004.11:g.3519895G>A	VUS	1 lab	84f42aaf24
X:63488552 MTMR8 G>T	X	63488552	63488552	G	T	MTMR8	c.1980C>A	NM_017677.3	NP_060147.2:p.(Ile660=)	NC_000023.10:g.63488552G>T	(Likely) benign	1 lab	84f573da8a
16:2112113 TSC2 T>TG	16	2112113	2112116	T	TG	TSC2	c.1257+107dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112116dup	(Likely) benign	1 lab	84f621a36f
2:179455331 TTN G>A	2	179455331	179455331	G	A	TTN	c.61121C>T	NM_001267550.1	NP_001254479.1:p.(Pro20374Leu)	NC_000002.11:g.179455331G>A	VUS	1 lab	84f6cb273a
X:54496661 FGD1 T>A	X	54496661	54496661	T	A	FGD1	c.889A>T	NM_004463.2	NP_004454.2:p.(Thr297Ser)	NC_000023.10:g.54496661T>A	VUS	1 lab	84f77fd42e
20:35563513 SAMHD1 C>T	20	35563513	35563513	C	T	SAMHD1	c.428G>A	NM_015474.3	NP_056289.2:p.(Arg143His)	NC_000020.10:g.35563513C>T	VUS	1 lab	84f81254f2
X:54277999 WNK3 A>C	X	54277999	54277999	A	C	WNK3	c.2489T>G	NM_020922.4	NP_065973.2:p.(Val830Gly)	NC_000023.10:g.54277999A>C	VUS	1 lab	84f82d663e
20:34022185 GDF5 A>G	20	34022185	34022185	A	G	GDF5	c.1028T>C	NM_000557.4	NP_000548.2:p.(Leu343Pro)	NC_000020.10:g.34022185A>G	VUS	1 lab	84f9cc89a0
2:179595454 TTN T>C	2	179595454	179595454	T	C	TTN	c.17806A>G	NM_001267550.1	NP_001254479.1:p.(Ile5936Val)	NC_000002.11:g.179595454T>C	(Likely) benign	1 lab	84fab406ca
2:166243269 SCN2A G>C	2	166243269	166243269	G	C	SCN2A	c.4565G>C	NM_021007.2	NP_066287.2:p.(Gly1522Ala)	NC_000002.11:g.166243269G>C	(Likely) benign	1 lab	84fdddfd79
18:21121101 NPC1 G>C	18	21121101	21121101	G	C	NPC1	c.2445C>G	NM_000271.4	NP_000262.2:p.(Ser815Arg)	NC_000018.9:g.21121101G>C	VUS	1 lab	84fe02c363
16:2103415 TSC2 GC>G	16	2103415	2103416	GC	G	TSC2	c.299del	NM_000548.5	NP_000539.2:p.(Ala100GlyfsTer6)	NC_000016.9:g.2103416del	(Likely) pathogenic	1 lab	84fe5add97
X:71932694 PHKA1 C>T	X	71932694	71932694	C	T	PHKA1	c.164G>A	NM_002637.3	NP_002628.2:p.(Trp55Ter)	NC_000023.10:g.71932694C>T	VUS	1 lab	84fe92d181
16:75512967 CHST6 C>T	16	75512967	75512967	C	T	CHST6	c.760G>A	NM_021615.5	NP_067628.1:p.(Glu254Lys)	NC_000016.9:g.75512967C>T	VUS	1 lab	fb0d8d4ff3
11:44129656 EXT2 GAA>G	11	44129656	44129658	GAA	G	EXT2	c.395_396del	NM_207122.2	NP_997005.1:p.(Glu132AlafsTer9)	NC_000011.9:g.44129657_44129658del	(Likely) pathogenic	1 lab	85018e97b3
22:50506894 MLC1 C>G	22	50506894	50506894	C	G	MLC1	c.862G>C	NM_015166.3	NP_055981.1:p.(Glu288Gln)	NC_000022.10:g.50506894C>G	VUS	1 lab	8501a26015
22:38122255 TRIOBP G>C	22	38122255	38122255	G	C	TRIOBP	c.3692G>C	NM_001039141.2	NP_001034230.1:p.(Arg1231Pro)	NC_000022.10:g.38122255G>C	VUS	1 lab	8501e43e4e
9:136298758 ADAMTS13 C>T	9	136298758	136298758	C	T	ADAMTS13	c.1245-3C>T	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136298758C>T	(Likely) benign	1 lab	85058285ea
18:6983105 LAMA1 G>A	18	6983105	6983105	G	A	LAMA1	c.5789C>T	NM_005559.3	NP_005550.2:p.(Thr1930Met)	NC_000018.9:g.6983105G>A	(Likely) benign	1 lab	85076f6dfc
12:48501161 PFKM A>T	12	48501161	48501161	A	T	PFKM	c.5A>T	NM_001166686.2	NP_001160158.1:p.(His2Leu)	NC_000012.11:g.48501161A>T	(Likely) benign	1 lab	fb0dfbbf0b
16:57993922 CNGB1 C>T	16	57993922	57993922	C	T	CNGB1	c.631G>A	NM_001297.4	NP_001288.3:p.(Glu211Lys)	NC_000016.9:g.57993922C>T	(Likely) benign	1 lab	850c951c99
12:116445450 MED13L C>CAAA	12	116445450	116445470	C	CAAA	MED13L	c.2013-12_2013-10dup	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445468_116445470dup	(Likely) benign	1 lab	850f220306
9:133333946 ASS1 C>T	9	133333946	133333946	C	T	ASS1	c.333C>T	NM_000050.4	NP_000041.2:p.(Ala111=)	NC_000009.11:g.133333946C>T	(Likely) benign	1 lab	850f2388bd
17:17931568 ATPAF2 A>G	17	17931568	17931568	A	G	ATPAF2	c.302T>C	NM_145691.3	NP_663729.1:p.(Ile101Thr)	NC_000017.10:g.17931568A>G	VUS	1 lab	850f8a9242
2:219205471 PNKD G>A	2	219205471	219205471	G	A	PNKD	c.486G>A	NM_015488.4	NP_056303.3:p.(Gly162=)	NC_000002.11:g.219205471G>A	(Likely) benign	1 lab	850fbc74e9
15:35085526 ACTC1 A>G	15	35085526	35085526	A	G	ACTC1	c.374T>C	NM_005159.5	NP_005150.1:p.(Met125Thr)	NC_000015.9:g.35085526A>G	(Likely) pathogenic	1 lab	fb0f351400
9:131346630 SPTAN1 A>G	9	131346630	131346630	A	G	SPTAN1	c.2263A>G	NM_001363759.1	NP_001350688.1:p.(Ile755Val)	NC_000009.11:g.131346630A>G	VUS	1 lab	85122d9a5e
3:142275310 ATR C>T	3	142275310	142275310	C	T	ATR	c.1993G>A	NM_001184.3	NP_001175.2:p.(Glu665Lys)	NC_000003.11:g.142275310C>T	VUS	1 lab	851350d9a8
1:22446902 WNT4 C>T	1	22446902	22446902	C	T	WNT4	c.697G>A	NM_030761.4	NP_110388.2:p.(Ala233Thr)	NC_000001.10:g.22446902C>T	VUS	1 lab	8513ee4782
9:124089770 GSN G>A	9	124089770	124089770	G	A	GSN	c.1870+10G>A	NM_001127663.1	NP_001121135.2:p.?	NC_000009.11:g.124089770G>A	(Likely) benign	1 lab	851404c4c3
11:1263618 MUC5B C>T	11	1263618	1263618	C	T	MUC5B	c.5508C>T	NM_002458.2	NP_002449.2:p.(Pro1836=)	NC_000011.9:g.1263618C>T	(Likely) benign	1 lab	851447a0c1
19:11101924 SMARCA4 C>T	19	11101924	11101924	C	T	SMARCA4	c.1344C>T	NM_001128844.1	NP_001122316.1:p.(Arg448=)	NC_000019.9:g.11101924C>T	(Likely) benign	1 lab	8515326010
12:111348961 MYL2 C>T	12	111348961	111348961	C	T	MYL2	c.421G>A	NM_000432.3	NP_000423.2:p.(Ala141Thr)	NC_000012.11:g.111348961C>T	VUS	1 lab	851621cc5f
19:41860649 B9D2 C>A	19	41860649	41860649	C	A	B9D2	c.484G>T	NM_030578.3	NP_085055.2:p.(Gly162Cys)	NC_000019.9:g.41860649C>A	VUS	1 lab	851715bd05
6:90642195 BACH2 C>T	6	90642195	90642195	C	T	BACH2	c.2458G>A	NM_021813.4	NP_068585.1:p.(Val820Met)	NC_000006.11:g.90642195C>T	VUS	1 lab	85172cd24e
11:18317571 HPS5 C>A	11	18317571	18317571	C	A	HPS5	c.1609G>T	NM_181507.1	NP_852608.1:p.(Val537Leu)	NC_000011.9:g.18317571C>A	(Likely) benign	1 lab	851804e868
3:25646314 TOP2B A>G	3	25646314	25646314	A	G	TOP2B	c.4411T>C	NM_001068.3	NP_001059.2:p.(Ser1471Pro)	NC_000003.11:g.25646314A>G	VUS	1 lab	85186eefbc
12:124810766 NCOR2 C>T	12	124810766	124810766	C	T	NCOR2	c.7334G>A	NM_006312.5	NP_006303.4:p.(Arg2445His)	NC_000012.11:g.124810766C>T	VUS	1 lab	85196577e3
1:10689705 PEX14 A>G	1	10689705	10689705	A	G	PEX14	c.795A>G	NM_004565.2	NP_004556.1:p.(Ser265=)	NC_000001.10:g.10689705A>G	(Likely) benign	1 lab	851a4dc153
1:43886961 SZT2 G>C	1	43886961	43886961	G	C	SZT2	c.1613G>C	NM_001365999.1	NP_001352928.1:p.(Gly538Ala)	NC_000001.10:g.43886961G>C	VUS	1 lab	851ad28e8c
2:15557664 NBAS A>G	2	15557664	15557664	A	G	NBAS	c.2750T>C	NM_015909.3	NP_056993.2:p.(Leu917Ser)	NC_000002.11:g.15557664A>G	VUS	1 lab	851afd750f
2:217303192 SMARCAL1 C>T	2	217303192	217303192	C	T	SMARCAL1	c.1694C>T	NM_014140.3	NP_054859.2:p.(Ala565Val)	NC_000002.11:g.217303192C>T	VUS	1 lab	851b63be46
9:2643443 VLDLR C>G	9	2643443	2643443	C	G	VLDLR	c.732C>G	NM_003383.4	NP_003374.3:p.(Ile244Met)	NC_000009.11:g.2643443C>G	VUS	1 lab	851ba4e7f2
21:45753152 CFAP410 G>A	21	45753152	45753152	G	A	CFAP410	c.144-7C>T	NM_001271441.1	NP_001258370.1:p.?	NC_000021.8:g.45753152G>A	(Likely) benign	1 lab	851cd39057
1:220366594 RAB3GAP2 G>A	1	220366594	220366594	G	A	RAB3GAP2	c.1258C>T	NM_012414.3	NP_036546.2:p.(Arg420Cys)	NC_000001.10:g.220366594G>A	VUS	1 lab	851df7341a
15:48433400 SLC24A5 T>C	15	48433400	48433400	T	C	SLC24A5	c.1169T>C	NM_205850.2	NP_995322.1:p.(Val390Ala)	NC_000015.9:g.48433400T>C	VUS	1 lab	851e4b5246
22:42608104 TCF20 G>GA	22	42608104	42608105	G	GA	TCF20	c.3207dup	NM_005650.3	NP_005641.1:p.(His1070SerfsTer7)	NC_000022.10:g.42608105dup	(Likely) pathogenic	1 lab	851f2297a3
2:44200769 LRPPRC C>T	2	44200769	44200769	C	T	LRPPRC	c.1346G>A	NM_133259.3	NP_573566.2:p.(Arg449His)	NC_000002.11:g.44200769C>T	(Likely) benign	1 lab	851f63e379
20:21142523 KIZ C>T	20	21142523	21142523	C	T	KIZ	c.417C>T	NM_018474.5	NP_060944.3:p.(His139=)	NC_000020.10:g.21142523C>T	(Likely) benign	1 lab	851fa5e55d
6:35478750 TULP1 T>TTCCTCGTCC	6	35478750	35478773	T	TTCCTCGTCC	TULP1	c.378_386dup	NM_003322.5	NP_003313.3:p.(Asp127_Glu129dup)	NC_000006.11:g.35478765_35478773dup	(Likely) benign	1 lab	851ff28c19
6:16327060 ATXN1 G>A	6	16327060	16327060	G	A	ATXN1	c.1482C>T	NM_000332.3	NP_000323.2:p.(Val494=)	NC_000006.11:g.16327060G>A	(Likely) benign	1 lab	85218eccba
22:35789465 HMOX1 T>C	22	35789465	35789465	T	C	HMOX1	c.741T>C	NM_002133.2	NP_002124.1:p.(Ser247=)	NC_000022.10:g.35789465T>C	(Likely) benign	1 lab	8523808634
1:169510250 F5 C>A	1	169510250	169510250	C	A	F5	c.4078G>T	NM_000130.4	NP_000121.2:p.(Asp1360Tyr)	NC_000001.10:g.169510250C>A	VUS	1 lab	85238f3952
13:23906327 SACS C>T	13	23906327	23906327	C	T	SACS	c.11688G>A	NM_014363.5	NP_055178.3:p.(Arg3896=)	NC_000013.10:g.23906327C>T	(Likely) benign	1 lab	8525ce5e18
14:105404793 AHNAK2 G>A	14	105404793	105404793	G	A	AHNAK2	c.16995C>T	NM_138420.3	NP_612429.2:p.(Ser5665=)	NC_000014.8:g.105404793G>A	(Likely) benign	1 lab	852610badb
17:29657391 NF1 C>G	17	29657391	29657391	C	G	NF1	c.5624C>G	NM_000267.3	NP_000258.1:p.(Ser1875Ter)	NC_000017.10:g.29657391C>G	(Likely) pathogenic	1 lab	852749e5f2
16:88501725 ZNF469 G>A	16	88501725	88501725	G	A	ZNF469				NC_000016.9:g.88501725G>A	(Likely) benign	1 lab	8528bed6ae
X:107418429 COL4A6 C>T	X	107418429	107418429	C	T	COL4A6	c.2898G>A	NM_001287758.1	NP_001274687.1:p.(Pro966=)	NC_000023.10:g.107418429C>T	(Likely) benign	1 lab	8528fda931
11:2185527 TH C>T	11	2185527	2185527	C	T	TH	c.1523G>A	NM_199292.2	NP_954986.2:p.(Arg508His)	NC_000011.9:g.2185527C>T	(Likely) benign	1 lab	8529c1b526
21:46893824 COL18A1 C>T	21	46893824	46893824	C	T	COL18A1	c.667C>T	NM_130445.2	NP_569712.2:p.(Leu223=)	NC_000021.8:g.46893824C>T	(Likely) benign	1 lab	852aca90b1
16:68404920 SMPD3 C>T	16	68404920	68404920	C	T	SMPD3	c.1165G>A	NM_018667.4	NP_061137.1:p.(Val389Ile)	NC_000016.9:g.68404920C>T	VUS	1 lab	852b806c2b
9:123739110 C5 C>T	9	123739110	123739110	C	T	C5	c.3750G>A	NM_001317163.1	NP_001304092.1:p.(Thr1250=)	NC_000009.11:g.123739110C>T	(Likely) benign	1 lab	852bfe86cf
X:102755306 RAB40A G>A	X	102755306	102755306	G	A	RAB40A	c.379C>T	NM_080879.2	NP_543155.2:p.(Arg127Cys)	NC_000023.10:g.102755306G>A	VUS	1 lab	852cc3fb66
7:103179729 RELN C>T	7	103179729	103179729	C	T	RELN	c.6976G>A	NM_005045.3	NP_005036.2:p.(Asp2326Asn)	NC_000007.13:g.103179729C>T	VUS	1 lab	852cc403fa
3:164704930 SI A>G	3	164704930	164704930	A	G	SI	c.5193T>C	NM_001041.3	NP_001032.2:p.(Ser1731=)	NC_000003.11:g.164704930A>G	(Likely) benign	1 lab	8530481661
4:155484201 FGB A>G	4	155484201	155484201	A	G	FGB	c.31A>G	NM_005141.4	NP_005132.2:p.(Lys11Glu)	NC_000004.11:g.155484201A>G	(Likely) benign	1 lab	8531dbeae7
11:17547920 USH1C C>T	11	17547920	17547920	C	T	USH1C	c.648G>A	NM_153676.3	NP_710142.1:p.(Leu216=)	NC_000011.9:g.17547920C>T	(Likely) benign	1 lab	8532051321
7:91864906 KRIT1 AG>A	7	91864906	91864908	AG	A	KRIT1	c.539del	NM_194454.3	NP_919436.1:p.(Pro180LeufsTer7)	NC_000007.13:g.91864908del	(Likely) pathogenic	1 lab	8532d293fc
19:38135612 ZFP30 G>A	19	38135612	38135612	G	A	ZFP30	c.35C>T	NM_001320666.2	NP_001307595.1:p.(Ala12Val)	NC_000019.9:g.38135612G>A	(Likely) benign	1 lab	8533082f79
21:35138243 ITSN1 C>A	21	35138243	35138243	C	A	ITSN1	c.853C>A	NM_001331010.1	NP_001317939.1:p.(Leu285Ile)	NC_000021.8:g.35138243C>A	VUS	1 lab	8534ae346c
20:45354507 SLC2A10 G>A	20	45354507	45354507	G	A	SLC2A10	c.832G>A	NM_030777.3	NP_110404.1:p.(Ala278Thr)	NC_000020.10:g.45354507G>A	(Likely) benign	1 lab	8535ddb475
X:153171150 AVPR2 C>T	X	153171150	153171150	C	T	AVPR2	c.190C>T	NM_000054.6	NP_000045.1:p.(Arg64Trp)	NC_000023.10:g.153171150C>T	VUS	1 lab	fb10597e41
8:48878773 MCM4 G>A	8	48878773	48878773	G	A	MCM4	c.859G>A	NM_005914.4	NP_005905.2:p.(Gly287Ser)	NC_000008.10:g.48878773G>A	VUS	1 lab	853712efe8
16:28354499 NPIPB6 A>G	16	28354499	28354499	A	G	NPIPB6	c.707T>C	NM_001282524.1	NP_001269453.1:p.(Val236Ala)	NC_000016.9:g.28354499A>G	(Likely) benign	1 lab	85378c17aa
22:50726452 PLXNB2 C>T	22	50726452	50726452	C	T	PLXNB2	c.1395G>A	NM_012401.4	NP_036533.2:p.(Pro465=)	NC_000022.10:g.50726452C>T	(Likely) benign	1 lab	8538dce747
5:77385214 AP3B1 T>C	5	77385214	77385214	T	C	AP3B1	c.2430+3A>G	NM_001271769.1	NP_001258698.1:p.?	NC_000005.9:g.77385214T>C	(Likely) benign	1 lab	853bbf1872
6:44413609 CDC5L C>T	6	44413609	44413609	C	T	CDC5L	c.2304+5C>T	NM_001253.4	NP_001244.1:p.?	NC_000006.11:g.44413609C>T	(Likely) benign	1 lab	853be4f8fd
8:3611528 CSMD1 A>G	8	3611528	3611528	A	G	CSMD1	c.855T>C	NM_033225.6	NP_150094.5:p.(Ser285=)	NC_000008.10:g.3611528A>G	(Likely) benign	1 lab	853c64667c
11:34152973 NAT10 C>A	11	34152973	34152973	C	A	NAT10	c.1415C>A	NM_024662.2	NP_078938.2:p.(Ala472Asp)	NC_000011.9:g.34152973C>A	VUS	1 lab	853ca5432c
2:73799791 ALMS1 T>C	2	73799791	73799791	T	C	ALMS1	c.10790T>C	NM_015120.4	NP_055935.4:p.(Val3597Ala)	NC_000002.11:g.73799791T>C	VUS	1 lab	8545242e4a
14:105416243 AHNAK2 A>G	14	105416243	105416243	A	G	AHNAK2	c.5545T>C	NM_138420.3	NP_612429.2:p.(Ser1849Pro)	NC_000014.8:g.105416243A>G	(Likely) benign	1 lab	85462715e5
15:43695965 TUBGCP4 C>T	15	43695965	43695965	C	T	TUBGCP4	c.1819C>T	NM_001286414.2	NP_001273343.1:p.(Arg607Cys)	NC_000015.9:g.43695965C>T	VUS	1 lab	8546dfc3d7
10:73551009 CDH23 T>C	10	73551009	73551009	T	C	CDH23	c.6170T>C	NM_022124.5	NP_071407.4:p.(Ile2057Thr)	NC_000010.10:g.73551009T>C	(Likely) benign	1 lab	85478a543c
16:2122290 TSC2 TC>T	16	2122290	2122293	TC	T	TSC2	c.2149del	NM_000548.5	NP_000539.2:p.(Leu717CysfsTer54)	NC_000016.9:g.2122293del	(Likely) pathogenic	1 lab	8548739e77
16:68857496 CDH1 C>T	16	68857496	68857496	C	T	CDH1	c.2131C>T	NM_004360.5	NP_004351.1:p.(Leu711=)	NC_000016.9:g.68857496C>T	(Likely) benign	1 lab	fb17780d37
11:118219775 CD3G A>G	11	118219775	118219775	A	G	CD3G	c.79+10A>G	NM_000073.2	NP_000064.1:p.?	NC_000011.9:g.118219775A>G	(Likely) benign	1 lab	854ada5b1c
X:102192957 RAB40AL A>G	X	102192957	102192957	A	G	RAB40AL	c.711A>G	NM_001031834.1	NP_001027004.1:p.(Arg237=)	NC_000023.10:g.102192957A>G	(Likely) benign	1 lab	854b34b717
1:1888184 CFAP74 C>T	1	1888184	1888184	C	T	CFAP74	c.1891G>A	NM_001304360.2	NP_001291289.1:p.(Val631Met)	NC_000001.10:g.1888184C>T	VUS	1 lab	854b6bc8d2
10:50857631 CHAT G>T	10	50857631	50857631	G	T	CHAT	c.1214G>T	NM_001142933.1	NP_001136405.1:p.(Cys405Phe)	NC_000010.10:g.50857631G>T	VUS	1 lab	854b87d264
18:7926591 PTPRM T>C	18	7926591	7926591	T	C	PTPRM	c.573T>C	NM_001105244.1	NP_001098714.1:p.(Ile191=)	NC_000018.9:g.7926591T>C	(Likely) benign	1 lab	854bac04a5
2:74652086 WDR54 C>T	2	74652086	74652086	C	T	WDR54	c.619C>T	NM_001320824.1	NP_001307753.1:p.(Arg207Cys)	NC_000002.11:g.74652086C>T	(Likely) benign	1 lab	855036fa2e
20:61461176 COL9A3 G>A	20	61461176	61461176	G	A	COL9A3	c.1161+5G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61461176G>A	VUS	1 lab	fb1835ea32
22:31529413 INPP5J G>A	22	31529413	31529413	G	A	INPP5J	c.2152G>A	NM_001284286.1	NP_001271215.1:p.(Asp718Asn)	NC_000022.10:g.31529413G>A	VUS	1 lab	8552b79759
16:71096189 HYDIN G>A	16	71096189	71096189	G	A	HYDIN	c.2259C>T	NM_001270974.2	NP_001257903.1:p.(Ser753=)	NC_000016.9:g.71096189G>A	(Likely) benign	1 lab	85543841ca
4:2822467 SH3BP2 G>T	4	2822467	2822467	G	T	SH3BP2	c.207G>T	NM_001145855.2	NP_001139327.1:p.(Leu69=)	NC_000004.11:g.2822467G>T	(Likely) benign	1 lab	fb27611571
22:21067615 PI4KA ATCT>A	22	21067615	21067621	ATCT	A	PI4KA	c.5522_5524del	NM_058004.4	NP_477352.3:p.(Lys1841del)	NC_000022.10:g.21067619_21067621del	VUS	1 lab	8555b1b614
9:138714222 CAMSAP1 C>T	9	138714222	138714222	C	T	CAMSAP1	c.2285G>A	NM_015447.4	NP_056262.3:p.(Ser762Asn)	NC_000009.11:g.138714222C>T	(Likely) benign	1 lab	8555fbe313
1:211847655 NEK2 T>C	1	211847655	211847655	T	C	NEK2	c.297A>G	NM_002497.4	NP_002488.1:p.(Thr99=)	NC_000001.10:g.211847655T>C	(Likely) benign	1 lab	85579ec116
19:54299123 NLRP12 G>C	19	54299123	54299123	G	C	NLRP12	c.3091C>G	NM_001277126.1	NP_001264055.1:p.(Arg1031Gly)	NC_000019.9:g.54299123G>C	(Likely) benign	1 lab	8557d03ca9
8:10465204 RP1L1 G>T	8	10465204	10465204	G	T	RP1L1	c.6404C>A	NM_178857.5	NP_849188.4:p.(Pro2135Gln)	NC_000008.10:g.10465204G>T	VUS	1 lab	85583432fa
7:50435936 MISSING C>T	7	50435936	50435936	C	T	MISSING				NC_000007.13:g.50435936C>T	(Likely) benign	1 lab	858147ce06
18:7026081 LAMA1 C>T	18	7026081	7026081	C	T	LAMA1	c.2299G>A	NM_005559.3	NP_005550.2:p.(Val767Ile)	NC_000018.9:g.7026081C>T	(Likely) benign	1 lab	855951a577
4:93225894 GRID2 C>T	4	93225894	93225894	C	T	GRID2	c.87C>T	NM_001510.3	NP_001501.2:p.(Ile29=)	NC_000004.11:g.93225894C>T	(Likely) benign	1 lab	855a054ea7
9:2645718 VLDLR C>G	9	2645718	2645718	C	G	VLDLR	c.1457C>G	NM_003383.4	NP_003374.3:p.(Ala486Gly)	NC_000009.11:g.2645718C>G	VUS	1 lab	855a242310
X:105153166 NRK A>G	X	105153166	105153166	A	G	NRK	c.1533A>G	NM_198465.3	NP_940867.2:p.(Gln511=)	NC_000023.10:g.105153166A>G	(Likely) benign	1 lab	855a4e1bc5
18:43460124 EPG5 G>A	18	43460124	43460124	G	A	EPG5	c.5583C>T	NM_020964.3	NP_066015.2:p.(Cys1861=)	NC_000018.9:g.43460124G>A	(Likely) benign	1 lab	855c92ac98
1:185878516 HMCN1 T>A	1	185878516	185878516	T	A	HMCN1	c.669T>A	NM_031935.2	NP_114141.2:p.(Leu223=)	NC_000001.10:g.185878516T>A	(Likely) benign	1 lab	855f950634
2:225379453 CUL3 C>A	2	225379453	225379453	C	A	CUL3	c.415G>T	NM_003590.4	NP_003581.1:p.(Val139Phe)	NC_000002.11:g.225379453C>A	VUS	1 lab	8560274229
2:233385396 PRSS56 G>A	2	233385396	233385396	G	A	PRSS56	c.88G>A	NM_001195129.2	NP_001182058.1:p.(Ala30Thr)	NC_000002.11:g.233385396G>A	(Likely) benign	1 lab	fb2a189ee3
1:16456083 EPHA2 C>G	1	16456083	16456083	C	G	EPHA2	c.2671G>C	NM_004431.4	NP_004422.2:p.(Val891Leu)	NC_000001.10:g.16456083C>G	VUS	1 lab	8562a65845
11:118373765 KMT2A A>C	11	118373765	118373765	A	C	KMT2A	c.7158A>C	NM_001197104.1	NP_001184033.1:p.(Thr2386=)	NC_000011.9:g.118373765A>C	(Likely) benign	1 lab	85636a75c7
5:145198974 PRELID2 A>G	5	145198974	145198974	A	G	PRELID2	c.211T>C	NM_182960.3	NP_892005.1:p.(Leu71=)	NC_000005.9:g.145198974A>G	(Likely) benign	1 lab	85644f955c
12:65133281 GNS T>C	12	65133281	65133281	T	C	GNS	c.876-2A>G	NM_002076.3	NP_002067.1:p.?	NC_000012.11:g.65133281T>C	(Likely) pathogenic	1 lab	8564c6393c
15:62214766 VPS13C G>A	15	62214766	62214766	G	A	VPS13C	c.6805C>T	NM_001018088.2	NP_001018098.1:p.(His2269Tyr)	NC_000015.9:g.62214766G>A	(Likely) benign	1 lab	8564cb933e
6:30553065 ABCF1 A>C	6	30553065	30553065	A	C	ABCF1	c.1420A>C	NM_001025091.1	NP_001020262.1:p.(Met474Leu)	NC_000006.11:g.30553065A>C	VUS	1 lab	8565d964cf
11:6653988 DCHS1 G>A	11	6653988	6653988	G	A	DCHS1				NC_000011.9:g.6653988G>A	(Likely) benign	1 lab	8566df9d41
9:139333231 INPP5E G>T	9	139333231	139333231	G	T	INPP5E	c.641C>A	NM_019892.5	NP_063945.2:p.(Ser214Ter)	NC_000009.11:g.139333231G>T	(Likely) pathogenic	1 lab	8568b0b32c
X:76907832 ATRX C>T	X	76907832	76907832	C	T	ATRX	c.4329G>A	NM_000489.5	NP_000480.3:p.(Glu1443=)	NC_000023.10:g.76907832C>T	(Likely) benign	1 lab	8569090736
7:105662725 CDHR3 A>G	7	105662725	105662725	A	G	CDHR3	c.1907A>G	NM_152750.5	NP_689963.2:p.(Tyr636Cys)	NC_000007.13:g.105662725A>G	VUS	1 lab	856a6c60c7
5:112384920 MCC G>A	5	112384920	112384920	G	A	MCC	c.2525C>T	NM_001085377.1	NP_001078846.1:p.(Thr842Met)	NC_000005.9:g.112384920G>A	VUS	1 lab	856b274420
17:72348372 KIF19 G>A	17	72348372	72348372	G	A	KIF19	c.1873G>A	NM_153209.4	NP_694941.2:p.(Val625Ile)	NC_000017.10:g.72348372G>A	(Likely) benign	1 lab	856ecf59aa
X:153714315 UBL4A C>T	X	153714315	153714315	C	T	UBL4A	c.158G>A	NM_014235.5	NP_055050.1:p.(Gly53Glu)	NC_000023.10:g.153714315C>T	(Likely) benign	1 lab	856fa91417
X:102977077 GLRA4 T>C	X	102977077	102977077	T	C	GLRA4	c.718+3A>G	NM_001172285.1	NP_001165756.1:p.?	NC_000023.10:g.102977077T>C	(Likely) benign	1 lab	85701a03da
8:42178334 IKBKB C>T	8	42178334	42178334	C	T	IKBKB	c.1483C>T	NM_001242778.1	NP_001229707.1:p.(Arg495Trp)	NC_000008.10:g.42178334C>T	VUS	1 lab	8571200c8a
11:17582266 OTOG C>A	11	17582266	17582266	C	A	OTOG	c.1389C>A	NM_001277269.1	NP_001264198.1:p.(Phe463Leu)	NC_000011.9:g.17582266C>A	(Likely) benign	1 lab	85714f8091
5:135510204 SMAD5 C>T	5	135510204	135510204	C	T	SMAD5	c.1137C>T	NM_001001419.2	NP_001001419.1:p.(Ser379=)	NC_000005.9:g.135510204C>T	(Likely) benign	1 lab	85716171d7
21:38877577 DYRK1A C>T	21	38877577	38877577	C	T	DYRK1A	c.1213-9C>T	NM_001347721.2	NP_001334650.1:p.?	NC_000021.8:g.38877577C>T	(Likely) benign	1 lab	85718e717a
5:40853778 CARD6 A>T	5	40853778	40853778	A	T	CARD6	c.2344A>T	NM_032587.4	NP_115976.2:p.(Ser782Cys)	NC_000005.9:g.40853778A>T	(Likely) benign	1 lab	8571ea345a
15:78454590 IDH3A C>T	15	78454590	78454590	C	T	IDH3A	c.492C>T	NM_005530.3	NP_005521.1:p.(Val164=)	NC_000015.9:g.78454590C>T	(Likely) benign	1 lab	8574077b4a
6:162864357 PRKN AT>A	6	162864357	162864359	AT	A	PRKN	c.155del	NM_004562.3	NP_004553.2:p.(Asn52MetfsTer29)	NC_000006.11:g.162864359del	(Likely) pathogenic	1 lab	8574b25e10
17:29654848 NF1 C>T	17	29654848	29654848	C	T	NF1	c.5537C>T	NM_000267.3	NP_000258.1:p.(Pro1846Leu)	NC_000017.10:g.29654848C>T	(Likely) benign	1 lab	8576100ddc
9:14801792 FREM1 C>T	9	14801792	14801792	C	T	FREM1	c.3552G>A	NM_144966.5	NP_659403.4:p.(Leu1184=)	NC_000009.11:g.14801792C>T	(Likely) benign	1 lab	8578a5a53c
8:103251007 RRM2B G>A	8	103251007	103251007	G	A	RRM2B	c.44C>T	NM_001172477.1	NP_001165948.1:p.(Pro15Leu)	NC_000008.10:g.103251007G>A	(Likely) benign	1 lab	85792e665c
1:78408483 NEXN C>A	1	78408483	78408483	C	A	NEXN	c.1997C>A	NM_144573.3	NP_653174.3:p.(Thr666Asn)	NC_000001.10:g.78408483C>A	VUS	1 lab	8579e5b4ca
16:2813293 SRRM2 A>G	16	2813293	2813293	A	G	SRRM2	c.2764A>G	NM_016333.4	NP_057417.3:p.(Ile922Val)	NC_000016.9:g.2813293A>G	(Likely) benign	1 lab	857a028e49
2:179606347 TTN G>A	2	179606347	179606347	G	A	TTN	c.11613C>T	NM_001267550.1	NP_001254479.1:p.(Asp3871=)	NC_000002.11:g.179606347G>A	(Likely) benign	1 lab	857b214f3a
14:61180432 SIX4 A>T	14	61180432	61180432	A	T	SIX4	c.2039T>A	NM_017420.4	NP_059116.3:p.(Met680Lys)	NC_000014.8:g.61180432A>T	VUS	1 lab	857b3879a8
20:34079058 CEP250 G>T	20	34079058	34079058	G	T	CEP250	c.2775G>T	NM_007186.5	NP_009117.2:p.(Lys925Asn)	NC_000020.10:g.34079058G>T	VUS	1 lab	857c5bbba4
10:50668460 ERCC6 C>T	10	50668460	50668460	C	T	ERCC6	c.4021G>A	NM_000124.2	NP_000115.1:p.(Val1341Met)	NC_000010.10:g.50668460C>T	VUS	1 lab	857ce04036
X:152986328 BCAP31 G>A	X	152986328	152986328	G	A	BCAP31	c.393C>T	NM_001139457.2	NP_001132929.1:p.(Ile131=)	NC_000023.10:g.152986328G>A	(Likely) benign	1 lab	857d6b8893
2:179560805 TTN G>C	2	179560805	179560805	G	C	TTN	c.30994C>G	NM_001267550.1	NP_001254479.1:p.(Pro10332Ala)	NC_000002.11:g.179560805G>C	(Likely) benign	1 lab	857d7e763c
18:77063666 ATP9B G>A	18	77063666	77063666	G	A	ATP9B	c.1474G>A	NM_198531.5	NP_940933.3:p.(Ala492Thr)	NC_000018.9:g.77063666G>A	(Likely) benign	1 lab	857dd01861
10:26443697 MYO3A G>A	10	26443697	26443697	G	A	MYO3A	c.2738G>A	NM_017433.5	NP_059129.3:p.(Arg913His)	NC_000010.10:g.26443697G>A	(Likely) benign	1 lab	857e202087
4:183600919 TENM3 G>A	4	183600919	183600919	G	A	TENM3	c.1427G>A	NM_001080477.3	NP_001073946.1:p.(Ser476Asn)	NC_000004.11:g.183600919G>A	(Likely) benign	1 lab	857fa898ee
12:80746116 OTOGL T>C	12	80746116	80746116	T	C	OTOGL	c.5280T>C	NM_173591.3	NP_775862.3:p.(Tyr1760=)	NC_000012.11:g.80746116T>C	(Likely) benign	1 lab	857fbef73d
16:50830387 CYLD T>C	16	50830387	50830387	T	C	CYLD	c.2839T>C	NM_015247.2	NP_056062.1:p.(Tyr947His)	NC_000016.9:g.50830387T>C	VUS	1 lab	85806af8ae
10:69644634 SIRT1 G>A	10	69644634	69644634	G	A	SIRT1	c.155G>A	NM_012238.4	NP_036370.2:p.(Gly52Asp)	NC_000010.10:g.69644634G>A	VUS	1 lab	8581cec328
X:153195656 NAA10 C>T	X	153195656	153195656	C	T	NAA10	c.492G>A	NM_003491.3	NP_003482.1:p.(Leu164=)	NC_000023.10:g.153195656C>T	(Likely) benign	1 lab	85821bc093
16:69729179 NFAT5 C>T	16	69729179	69729179	C	T	NFAT5	c.4273C>T	NM_138714.3	NP_619728.2:p.(Leu1425=)	NC_000016.9:g.69729179C>T	(Likely) benign	1 lab	85826c632d
15:85186712 WDR73 C>A	15	85186712	85186712	C	A	WDR73	c.1126G>T	NM_032856.3	NP_116245.2:p.(Ala376Ser)	NC_000015.9:g.85186712C>A	(Likely) benign	1 lab	8582e8f67d
3:69928298 MITF C>T	3	69928298	69928298	C	T	MITF	c.118C>T	NM_198159.2	NP_937802.1:p.(His40Tyr)	NC_000003.11:g.69928298C>T	VUS	1 lab	85865f2f1d
X:44929323 KDM6A A>G	X	44929323	44929323	A	G	KDM6A	c.2579A>G	NM_001291415.1	NP_001278344.1:p.(His860Arg)	NC_000023.10:g.44929323A>G	VUS	1 lab	85880dfb79
6:76596570 MYO6 T>C	6	76596570	76596570	T	C	MYO6	c.2517T>C	NM_004999.3	NP_004990.3:p.(Gly839=)	NC_000006.11:g.76596570T>C	(Likely) benign	1 lab	85897110dd
16:2107151 TSC2 TACA>T	16	2107151	2107157	TACA	T	TSC2	c.824_826del	NM_000548.5	NP_000539.2:p.(Asn275del)	NC_000016.9:g.2107155_2107157del	(Likely) pathogenic	1 lab	8590c85fff
6:38899686 DNAH8 A>G	6	38899686	38899686	A	G	DNAH8	c.11374A>G	NM_001206927.1	NP_001193856.1:p.(Lys3792Glu)	NC_000006.11:g.38899686A>G	VUS	1 lab	85915088a1
11:68191128 LRP5 G>A	11	68191128	68191128	G	A	LRP5	c.3199G>A	NM_002335.4	NP_002326.2:p.(Asp1067Asn)	NC_000011.9:g.68191128G>A	VUS	1 lab	fb387f5244
16:88498449 ZNF469 T>G	16	88498449	88498449	T	G	ZNF469				NC_000016.9:g.88498449T>G	VUS	1 lab	8591ca75c7
22:30067899 NF2 C>T	22	30067899	30067899	C	T	NF2	c.1084C>T	NM_000268.4	NP_000259.1:p.(Gln362Ter)	NC_000022.10:g.30067899C>T	(Likely) pathogenic	1 lab	fb388405d8
11:31671721 ELP4 T>C	11	31671721	31671721	T	C	ELP4	c.1095T>C	NM_001288726.1	NP_001275655.1:p.(Asp365=)	NC_000011.9:g.31671721T>C	(Likely) benign	1 lab	85947555e2
2:179596214 TTN G>A	2	179596214	179596214	G	A	TTN	c.17279C>T	NM_001267550.1	NP_001254479.1:p.(Thr5760Met)	NC_000002.11:g.179596214G>A	VUS	1 lab	859497cd53
15:90177058 KIF7 A>T	15	90177058	90177058	A	T	KIF7	c.2451T>A	NM_198525.2	NP_940927.2:p.(Ser817Arg)	NC_000015.9:g.90177058A>T	VUS	1 lab	85952f9de2
20:42788301 JPH2 C>A	20	42788301	42788301	C	A	JPH2	c.1126G>T	NM_020433.5	NP_065166.2:p.(Ala376Ser)	NC_000020.10:g.42788301C>A	VUS	1 lab	fb39519c16
2:38178905 RMDN2 A>G	2	38178905	38178905	A	G	RMDN2	c.547A>G	NM_144713.4	NP_653314.3:p.(Asn183Asp)	NC_000002.11:g.38178905A>G	(Likely) benign	1 lab	85965e3610
2:179583077 TTN A>C	2	179583077	179583077	A	C	TTN	c.24756T>G	NM_001267550.1	NP_001254479.1:p.(Asp8252Glu)	NC_000002.11:g.179583077A>C	(Likely) benign	1 lab	8597ba3cf8
7:128498235 FLNC CAGA>C	7	128498235	128498242	CAGA	C	FLNC	c.7959_7961del	NM_001458.5	NP_001449.3:p.(Lys2653del)	NC_000007.13:g.128498240_128498242del	VUS	1 lab	fb3a2d2b36
X:62898360 ARHGEF9 C>T	X	62898360	62898360	C	T	ARHGEF9	c.654G>A	NM_015185.2	NP_056000.1:p.(Gln218=)	NC_000023.10:g.62898360C>T	(Likely) benign	1 lab	85982610f8
X:140985003 MAGEC3 A>C	X	140985003	140985003	A	C	MAGEC3	c.1459A>C	NM_138702.1	NP_619647.1:p.(Ile487Leu)	NC_000023.10:g.140985003A>C	(Likely) benign	1 lab	859af2459d
1:22202510 HSPG2 C>T	1	22202510	22202510	C	T	HSPG2	c.3032G>A	NM_001291860.1	NP_001278789.1:p.(Arg1011His)	NC_000001.10:g.22202510C>T	VUS	1 lab	859afbcf6c
11:65487511 RNASEH2C C>T	11	65487511	65487511	C	T	RNASEH2C	c.468+5G>A	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487511C>T	VUS	1 lab	8e148b7739
3:52486227 TNNC1 C>T	3	52486227	52486227	C	T	TNNC1	c.97G>A	NM_003280.3	NP_003271.1:p.(Asp33Asn)	NC_000003.11:g.52486227C>T	VUS	1 lab	fb3c26a045
20:62193938 HELZ2 C>T	20	62193938	62193938	C	T	HELZ2	c.6237G>A	NM_001037335.2	NP_001032412.2:p.(Pro2079=)	NC_000020.10:g.62193938C>T	(Likely) benign	1 lab	859c5c1c41
10:99498266 ZFYVE27 C>T	10	99498266	99498266	C	T	ZFYVE27	c.32C>T	NM_144588.6	NP_653189.3:p.(Pro11Leu)	NC_000010.10:g.99498266C>T	(Likely) benign	1 lab	859ea18201
X:71358628 NHSL2 A>G	X	71358628	71358628	A	G	NHSL2	c.1230A>G	NM_001013627.2	NP_001013649.2:p.(Gln410=)	NC_000023.10:g.71358628A>G	VUS	1 lab	859f25bdc9
14:105421093 AHNAK2 G>A	14	105421093	105421093	G	A	AHNAK2	c.695C>T	NM_138420.3	NP_612429.2:p.(Thr232Ile)	NC_000014.8:g.105421093G>A	(Likely) benign	1 lab	85a08012d7
X:141290837 MAGEC2 T>C	X	141290837	141290837	T	C	MAGEC2	c.937A>G	NM_016249.3	NP_057333.1:p.(Lys313Glu)	NC_000023.10:g.141290837T>C	VUS	1 lab	85a128df5c
17:12659790 MYOCD C>T	17	12659790	12659790	C	T	MYOCD	c.2118C>T	NM_001146312.2	NP_001139784.1:p.(His706=)	NC_000017.10:g.12659790C>T	(Likely) benign	1 lab	85a192bb93
4:88583604 DMP1 G>A	4	88583604	88583604	G	A	DMP1	c.674G>A	NM_004407.3	NP_004398.1:p.(Ser225Asn)	NC_000004.11:g.88583604G>A	(Likely) benign	1 lab	85a2702c1f
X:19368144 PDHA1 G>C	X	19368144	19368144	G	C	PDHA1	c.207G>C	NM_000284.4	NP_000275.1:p.(Gln69His)	NC_000023.10:g.19368144G>C	VUS	1 lab	fb40e95b10
17:59482065 TBX2 C>A	17	59482065	59482065	C	A	TBX2	c.986C>A	NM_005994.4	NP_005985.3:p.(Pro329His)	NC_000017.10:g.59482065C>A	(Likely) benign	1 lab	fb41f4e14b
4:100573507 C4orf54 C>T	4	100573507	100573507	C	T	C4orf54	c.2299G>A	NM_001354435.1	NP_001341364.1:p.(Gly767Arg)	NC_000004.11:g.100573507C>T	VUS	1 lab	85a5be6572
X:50370667 SHROOM4 A>C	X	50370667	50370667	A	C	SHROOM4	c.2904T>G	NM_020717.3	NP_065768.2:p.(Pro968=)	NC_000023.10:g.50370667A>C	(Likely) benign	1 lab	85a61a0872
12:110780140 ATP2A2 G>A	12	110780140	110780140	G	A	ATP2A2	c.2205G>A	NM_170665.4	NP_733765.1:p.(Ala735=)	NC_000012.11:g.110780140G>A	(Likely) benign	1 lab	85a61d5b8b
4:126371975 FAT4 G>A	4	126371975	126371975	G	A	FAT4	c.9810G>A	NM_001291303.1	NP_001278232.1:p.(Val3270=)	NC_000004.11:g.126371975G>A	(Likely) benign	1 lab	85a7671a1a
16:88495399 ZNF469 C>T	16	88495399	88495399	C	T	ZNF469				NC_000016.9:g.88495399C>T	(Likely) benign	1 lab	85a7f9703e
X:53279619 IQSEC2 G>A	X	53279619	53279619	G	A	IQSEC2	c.2139C>T	NM_001111125.2	NP_001104595.1:p.(Ser713=)	NC_000023.10:g.53279619G>A	(Likely) benign	1 lab	85a8704c46
8:87656853 CNGB3 T>C	8	87656853	87656853	T	C	CNGB3	c.1052A>G	NM_019098.4	NP_061971.3:p.(Tyr351Cys)	NC_000008.10:g.87656853T>C	VUS	1 lab	85aa3111f1
11:121495887 SORL1 AT>A	11	121495887	121495888	AT	A	SORL1	c.6266del	NM_003105.6	NP_003096.2:p.(Met2089ArgfsTer58)	NC_000011.9:g.121495888del	VUS	1 lab	85aa7c8634
10:101611250 ABCC2 T>C	10	101611250	101611250	T	C	ABCC2	c.4509-9T>C	NM_000392.5	NP_000383.2:p.?	NC_000010.10:g.101611250T>C	(Likely) benign	1 lab	85abbba695
10:46321875 AGAP4 G>C	10	46321875	46321875	G	C	AGAP4	c.1225C>G	NM_001291379.1	NP_001278308.1:p.(Arg409Gly)	NC_000010.10:g.46321875G>C	VUS	1 lab	85b26f3b97
20:10033877 ANKEF1 C>T	20	10033877	10033877	C	T	ANKEF1	c.1988C>T	NM_022096.6	NP_071379.3:p.(Thr663Ile)	NC_000020.10:g.10033877C>T	(Likely) benign	1 lab	85b2b6ccbe
2:95713807 MAL C>G	2	95713807	95713807	C	G	MAL	c.197C>G	NM_002371.4	NP_002362.1:p.(Thr66Ser)	NC_000002.11:g.95713807C>G	VUS	1 lab	85b316053b
6:42672150 PRPH2 G>A	6	42672150	42672150	G	A	PRPH2	c.781C>T	NM_000322.4	NP_000313.2:p.(Leu261Phe)	NC_000006.11:g.42672150G>A	(Likely) benign	1 lab	85b3386aaf
3:33166006 CRTAP GTC>G	3	33166006	33166010	GTC	G	CRTAP	c.731_732del	NM_006371.5	NP_006362.1:p.(Leu244ArgfsTer34)	NC_000003.11:g.33166009_33166010del	(Likely) pathogenic	1 lab	85b6b44574
12:52200285 SCN8A A>G	12	52200285	52200285	A	G	SCN8A	c.5015A>G	NM_001330260.1	NP_001317189.1:p.(Asn1672Ser)	NC_000012.11:g.52200285A>G	VUS	1 lab	85ba2e43a5
19:10246788 DNMT1 C>T	19	10246788	10246788	C	T	DNMT1	c.4608+9G>A	NM_001379.3	NP_001370.1:p.?	NC_000019.9:g.10246788C>T	(Likely) benign	1 lab	85ba482ad3
20:44416550 WFDC3 A>G	20	44416550	44416550	A	G	WFDC3	c.283T>C	NM_080614.2	NP_542181.1:p.(Cys95Arg)	NC_000020.10:g.44416550A>G	(Likely) benign	1 lab	85ba6ab358
14:104644917 KIF26A C>A	14	104644917	104644917	C	A	KIF26A	c.5141C>A	NM_015656.1	NP_056471.1:p.(Pro1714Gln)	NC_000014.8:g.104644917C>A	VUS	1 lab	85ba7dddb5
8:11995048 USP17L2 G>T	8	11995048	11995048	G	T	USP17L2	c.1222C>A	NM_201402.2	NP_958804.2:p.(Leu408Ile)	NC_000008.10:g.11995048G>T	(Likely) benign	1 lab	85baa9c2c3
2:217024808 XRCC5 C>G	2	217024808	217024808	C	G	XRCC5	c.1688C>G	NM_021141.3	NP_066964.1:p.(Thr563Arg)	NC_000002.11:g.217024808C>G	(Likely) benign	1 lab	85bd2eb91c
20:34242695 RBM12 T>C	20	34242695	34242695	T	C	RBM12	c.550A>G	NM_152838.3	NP_690051.1:p.(Thr184Ala)	NC_000020.10:g.34242695T>C	VUS	1 lab	85be0719ec
15:35084710 ACTC1 G>A	15	35084710	35084710	G	A	ACTC1	c.515C>T	NM_005159.4	NP_005150.1:p.(Ala172Val)	NC_000015.9:g.35084710G>A	VUS	1 lab	85bf0abe03
3:128622934 ACAD9 A>C	3	128622934	128622934	A	C	ACAD9	c.988A>C	NM_014049.4	NP_054768.2:p.(Lys330Gln)	NC_000003.11:g.128622934A>C	(Likely) benign	1 lab	85c2935041
10:28260162 ODAD2 G>A	10	28260162	28260162	G	A	ODAD2	c.1017C>T	NM_001290020.1	NP_001276949.1:p.(Leu339=)	NC_000010.10:g.28260162G>A	(Likely) benign	1 lab	85c2c084d5
7:35271220 TBX20 A>G	7	35271220	35271220	A	G	TBX20	c.814-28T>C	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35271220A>G	(Likely) benign	1 lab	85c389e604
3:75714819 FRG2C G>A	3	75714819	75714819	G	A	FRG2C	c.476G>A	NM_001124759.3	NP_001118231.1:p.(Arg159Gln)	NC_000003.11:g.75714819G>A	(Likely) benign	1 lab	85c4de41ca
21:45949798 TSPEAR C>T	21	45949798	45949798	C	T	TSPEAR	c.469G>A	NM_001272037.1	NP_001258966.1:p.(Ala157Thr)	NC_000021.8:g.45949798C>T	VUS	1 lab	85c57af787
1:89479817 GBP3 G>A	1	89479817	89479817	G	A	GBP3	c.172C>T	NM_001319180.1	NP_001306109.1:p.(Gln58Ter)	NC_000001.10:g.89479817G>A	VUS	1 lab	85c5b74da8
1:153748079 SLC27A3 G>A	1	153748079	153748079	G	A	SLC27A3	c.106G>A	NM_024330.3	NP_077306.3:p.(Ala36Thr)	NC_000001.10:g.153748079G>A	(Likely) benign	1 lab	85c8d8ffcd
16:2124255 TSC2 T>C	16	2124255	2124255	T	C	TSC2	c.2410T>C	NM_000548.3	NP_000539.2:p.(Cys804Arg)	NC_000016.9:g.2124255T>C	(Likely) pathogenic	1 lab	85ccbb5ffa
11:124747839 ROBO3 G>T	11	124747839	124747839	G	T	ROBO3	c.2993G>T	NM_022370.3	NP_071765.2:p.(Gly998Val)	NC_000011.9:g.124747839G>T	VUS	1 lab	85cd063911
1:45297925 PTCH2 G>T	1	45297925	45297925	G	T	PTCH2	c.354C>A	NM_001166292.1	NP_001159764.1:p.(Thr118=)	NC_000001.10:g.45297925G>T	(Likely) benign	1 lab	85cee9492b
4:128878674 MFSD8 T>C	4	128878674	128878674	T	C	MFSD8	c.136A>G	NM_152778.2	NP_689991.1:p.(Met46Val)	NC_000004.11:g.128878674T>C	VUS	1 lab	85d0dc61a2
11:44129771 EXT2 C>T	11	44129771	44129771	C	T	EXT2	c.509C>T	NM_001178083.1	NP_001171554.1:p.(Thr170Ile)	NC_000011.9:g.44129771C>T	VUS	1 lab	85d3e3fa3d
12:124181012 TCTN2 A>G	12	124181012	124181012	A	G	TCTN2	c.1363A>G	NM_024809.4	NP_079085.2:p.(Asn455Asp)	NC_000012.11:g.124181012A>G	(Likely) benign	1 lab	85d474a91d
17:29556144 NF1 G>A	17	29556144	29556144	G	A	NF1	c.2511G>A	NM_000267.3	NP_000258.1:p.(Trp837Ter)	NC_000017.10:g.29556144G>A	(Likely) pathogenic	1 lab	85d48accae
15:77426013 PEAK1 T>C	15	77426013	77426013	T	C	PEAK1	c.3411A>G	NM_024776.3	NP_079052.2:p.(Gly1137=)	NC_000015.9:g.77426013T>C	(Likely) benign	1 lab	85d711da96
3:42699892 ZBTB47 C>T	3	42699892	42699892	C	T	ZBTB47	c.45C>T	NM_145166.4	NP_660149.2:p.(Cys15=)	NC_000003.11:g.42699892C>T	(Likely) benign	1 lab	85d798f6f7
1:161010455 USF1 G>A	1	161010455	161010455	G	A	USF1	c.625C>T	NM_007122.5	NP_009053.1:p.(Arg209Cys)	NC_000001.10:g.161010455G>A	VUS	1 lab	fb4830098b
18:60021619 TNFRSF11A C>A	18	60021619	60021619	C	A	TNFRSF11A	c.284-5C>A	NM_001278268.1	NP_001265197.1:p.?	NC_000018.9:g.60021619C>A	VUS	1 lab	85d811e9ca
9:135781393 TSC1 G>C	9	135781393	135781393	G	C	TSC1	c.1572C>G	NM_000368.4	NP_000359.1:p.(Ser524=)	NC_000009.11:g.135781393G>C	(Likely) benign	1 lab	85d89d8405
9:2635551 VLDLR G>A	9	2635551	2635551	G	A	VLDLR	c.181G>A	NM_003383.4	NP_003374.3:p.(Gly61Ser)	NC_000009.11:g.2635551G>A	VUS	1 lab	85d92c698d
14:23900082 MYH7 T>G	14	23900082	23900082	T	G	MYH7	c.895+28A>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900082T>G	(Likely) benign	1 lab	85da358e9e
X:38226630 OTC A>G	X	38226630	38226630	A	G	OTC	c.164A>G	NM_000531.5	NP_000522.3:p.(Tyr55Cys)	NC_000023.10:g.38226630A>G	VUS	1 lab	85da710c8e
1:161176364 NDUFS2 A>C	1	161176364	161176364	A	C	NDUFS2	c.370A>C	NM_001166159.1	NP_001159631.1:p.(Ile124Leu)	NC_000001.10:g.161176364A>C	VUS	1 lab	85da9a518a
1:32193095 ADGRB2 G>A	1	32193095	32193095	G	A	ADGRB2	c.4681C>T	NM_001294335.1	NP_001281264.1:p.(Arg1561Trp)	NC_000001.10:g.32193095G>A	VUS	1 lab	85dbf2cb5e
6:35477514 TULP1 G>A	6	35477514	35477514	G	A	TULP1	c.615C>T	NM_003322.5	NP_003313.3:p.(Ala205=)	NC_000006.11:g.35477514G>A	(Likely) benign	1 lab	85dcf701b8
19:4817617 TICAM1 G>A	19	4817617	4817617	G	A	TICAM1	c.773C>T	NM_182919.3	NP_891549.1:p.(Ser258Leu)	NC_000019.9:g.4817617G>A	VUS	1 lab	85df54d28d
11:113234567 TTC12 A>C	11	113234567	113234567	A	C	TTC12	c.1284A>C	NM_001352038.1	NP_001338967.1:p.(Ala428=)	NC_000011.9:g.113234567A>C	(Likely) benign	1 lab	85e0187cc5
11:6651473 DCHS1 G>C	11	6651473	6651473	G	C	DCHS1				NC_000011.9:g.6651473G>C	VUS	1 lab	8e897b402e
9:135786388 TSC1 C>A	9	135786388	135786388	C	A	TSC1	c.1141+1G>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135786388C>A	(Likely) pathogenic	1 lab	85e19c2fdc
2:98341616 ZAP70 C>T	2	98341616	98341616	C	T	ZAP70	c.464C>T	NM_001079.3	NP_001070.2:p.(Thr155Met)	NC_000002.11:g.98341616C>T	(Likely) benign	1 lab	85e42836ad
9:418193 DOCK8 G>T	9	418193	418193	G	T	DOCK8	c.3826G>T	NM_203447.3	NP_982272.2:p.(Val1276Leu)	NC_000009.11:g.418193G>T	(Likely) benign	1 lab	85e42e8722
17:72368371 GPR142 C>T	17	72368371	72368371	C	T	GPR142	c.1021C>T	NM_181790.1	NP_861455.1:p.(Arg341Trp)	NC_000017.10:g.72368371C>T	(Likely) benign	1 lab	85e4fc935b
5:36985509 NIPBL C>T	5	36985509	36985509	C	T	NIPBL	c.2227C>T	NM_015384.4	NP_056199.2:p.(Arg743Cys)	NC_000005.9:g.36985509C>T	VUS	1 lab	85e820bd94
8:53558259 RB1CC1 G>C	8	53558259	53558259	G	C	RB1CC1	c.3987+3C>G	NM_014781.4	NP_055596.3:p.?	NC_000008.10:g.53558259G>C	(Likely) benign	1 lab	85e9580019
X:108921338 ACSL4 G>A	X	108921338	108921338	G	A	ACSL4	c.932C>T	NM_022977.2	NP_075266.1:p.(Pro311Leu)	NC_000023.10:g.108921338G>A	(Likely) benign	1 lab	85e9716805
12:113405891 OAS3 C>T	12	113405891	113405891	C	T	OAS3	c.3016C>T	NM_006187.4	NP_006178.2:p.(Arg1006Cys)	NC_000012.11:g.113405891C>T	VUS	1 lab	85e98245bf
11:70332986 SHANK2 C>T	11	70332986	70332986	C	T	SHANK2	c.3412G>A	NM_012309.4	NP_036441.2:p.(Ala1138Thr)	NC_000011.9:g.70332986C>T	(Likely) benign	1 lab	85e9bb4520
21:37649372 DOP1B G>A	21	37649372	37649372	G	A	DOP1B	c.5686G>A	NM_001320714.1	NP_001307643.1:p.(Val1896Met)	NC_000021.8:g.37649372G>A	VUS	1 lab	85ea321845
20:2375205 TGM6 A>T	20	2375205	2375205	A	T	TGM6	c.115A>T	NM_198994.2	NP_945345.2:p.(Ser39Cys)	NC_000020.10:g.2375205A>T	VUS	1 lab	85ec2295ac
2:96950277 SNRNP200 T>C	2	96950277	96950277	T	C	SNRNP200	c.4211A>G	NM_014014.4	NP_054733.2:p.(Lys1404Arg)	NC_000002.11:g.96950277T>C	VUS	1 lab	85edcc62e8
10:72358104 PRF1 T>G	10	72358104	72358104	T	G	PRF1	c.1373A>C	NM_001083116.1	NP_001076585.1:p.(Asn458Thr)	NC_000010.10:g.72358104T>G	VUS	1 lab	85edd9c1a5
2:240960848 NDUFA10 G>A	2	240960848	240960848	G	A	NDUFA10	c.245-19C>T	NM_004544.4	NP_004535.1:p.?	NC_000002.11:g.240960848G>A	(Likely) benign	1 lab	fb4c9bda84
16:57785612 KATNB1 G>A	16	57785612	57785612	G	A	KATNB1	c.492G>A	NM_005886.2	NP_005877.2:p.(Ser164=)	NC_000016.9:g.57785612G>A	(Likely) benign	1 lab	85efe1be9d
18:67753887 RTTN G>C	18	67753887	67753887	G	C	RTTN	c.4336C>G	NM_173630.3	NP_775901.3:p.(Pro1446Ala)	NC_000018.9:g.67753887G>C	VUS	1 lab	85f10ec8d8
6:157502186 ARID1B C>T	6	157502186	157502186	C	T	ARID1B	c.3219C>T	NM_020732.3	NP_065783.3:p.(Val1073=)	NC_000006.11:g.157502186C>T	(Likely) benign	1 lab	85f1ab0c54
4:72413447 SLC4A4 T>A	4	72413447	72413447	T	A	SLC4A4	c.2694+10T>A	NM_001098484.2	NP_001091954.1:p.?	NC_000004.11:g.72413447T>A	(Likely) benign	1 lab	85f1eab0cb
13:110819585 COL4A1 C>T	13	110819585	110819585	C	T	COL4A1	c.3877-8G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110819585C>T	(Likely) benign	1 lab	85f2fe18b1
1:6504599 ESPN C>G	1	6504599	6504599	C	G	ESPN	c.1049C>G	NM_031475.3	NP_113663.2:p.(Pro350Arg)	NC_000001.10:g.6504599C>G	(Likely) benign	1 lab	85f3bf3da0
8:82645033 CHMP4C G>C	8	82645033	82645033	G	C	CHMP4C	c.172G>C	NM_152284.4	NP_689497.1:p.(Gly58Arg)	NC_000008.10:g.82645033G>C	VUS	1 lab	85f561bc53
9:84562878 SPATA31D3 A>G	9	84562878	84562878	A	G	SPATA31D3	c.2710A>G	NM_207416.2	NP_997299.2:p.(Ile904Val)	NC_000009.11:g.84562878A>G	VUS	1 lab	85f56e24cd
15:25584334 UBE3A CTTTAAG>C	15	25584334	25584343	CTTTAAG	C	UBE3A	c.2563_2568del	NM_130839.5	NP_570854.1:p.(Leu855_Lys856del)	NC_000015.9:g.25584338_25584343del	(Likely) pathogenic	1 lab	85f5e1672f
9:79952242 VPS13A T>C	9	79952242	79952242	T	C	VPS13A	c.6167T>C	NM_033305.2	NP_150648.2:p.(Ile2056Thr)	NC_000009.11:g.79952242T>C	(Likely) benign	1 lab	85f61a5bfe
19:11346323 DOCK6 G>A	19	11346323	11346323	G	A	DOCK6	c.2505C>T	NM_020812.3	NP_065863.2:p.(Tyr835=)	NC_000019.9:g.11346323G>A	(Likely) benign	1 lab	85f67f59a2
9:137716639 COL5A1 C>A	9	137716639	137716639	C	A	COL5A1	c.4892C>A	NM_000093.4	NP_000084.3:p.(Thr1631Lys)	NC_000009.11:g.137716639C>A	VUS	1 lab	85f7de4000
X:100382190 CENPI C>T	X	100382190	100382190	C	T	CENPI	c.841C>T	NM_006733.3	NP_006724.2:p.(Arg281Trp)	NC_000023.10:g.100382190C>T	VUS	1 lab	85f93b5473
4:126411388 FAT4 G>A	4	126411388	126411388	G	A	FAT4	c.13411G>A	NM_024582.4	NP_078858.4:p.(Val4471Ile)	NC_000004.11:g.126411388G>A	(Likely) benign	1 lab	85fa859b4f
2:87015693 CD8A G>A	2	87015693	87015693	G	A	CD8A	c.626-10C>T	NM_001145873.1	NP_001139345.1:p.?	NC_000002.11:g.87015693G>A	(Likely) benign	1 lab	85fbf7d140
11:2683309 KCNQ1 A>C	11	2683309	2683309	A	C	KCNQ1	c.1512A>C	NM_000218.2	NP_000209.2:p.(Ser504=)	NC_000011.9:g.2683309A>C	(Likely) benign	1 lab	85fe7cd94a
15:40954269 KNL1 C>T	15	40954269	40954269	C	T	KNL1	c.6915-3C>T	NM_170589.4	NP_733468.3:p.?	NC_000015.9:g.40954269C>T	(Likely) benign	1 lab	85fec20956
X:123556236 TENM1 C>T	X	123556236	123556236	C	T	TENM1	c.4357G>A	NM_001163278.1	NP_001156750.1:p.(Glu1453Lys)	NC_000023.10:g.123556236C>T	VUS	1 lab	fb4c9eecca
10:97380885 ALDH18A1 C>A	10	97380885	97380885	C	A	ALDH18A1	c.1370G>T	NM_001323413.1	NP_001310342.1:p.(Arg457Leu)	NC_000010.10:g.97380885C>A	VUS	1 lab	86061486a7
12:1741946 WNT5B A>C	12	1741946	1741946	A	C	WNT5B	c.203A>C	NM_032642.3	NP_116031.1:p.(His68Pro)	NC_000012.11:g.1741946A>C	VUS	1 lab	860a2ef426
14:105413612 AHNAK2 C>T	14	105413612	105413612	C	T	AHNAK2	c.8176G>A	NM_138420.3	NP_612429.2:p.(Gly2726Ser)	NC_000014.8:g.105413612C>T	VUS	1 lab	860aefa1d0
2:179414507 TTN C>T	2	179414507	179414507	C	T	TTN	c.91942G>A	NM_001267550.2	NP_001254479.2:p.(Gly30648Ser)	NC_000002.11:g.179414507C>T	VUS	1 lab	fb4dcf470c
X:3242282 MXRA5 T>C	X	3242282	3242282	T	C	MXRA5	c.1444A>G	NM_015419.3	NP_056234.2:p.(Ser482Gly)	NC_000023.10:g.3242282T>C	(Likely) benign	1 lab	860d6bdda2
4:100496109 MTTP T>C	4	100496109	100496109	T	C	MTTP	c.43T>C	NM_000253.3	NP_000244.2:p.(Tyr15His)	NC_000004.11:g.100496109T>C	VUS	1 lab	860e2cbbef
X:135750290 ARHGEF6 C>G	X	135750290	135750290	C	G	ARHGEF6	c.2229G>C	NM_004840.2	NP_004831.1:p.(Leu743=)	NC_000023.10:g.135750290C>G	(Likely) benign	1 lab	860fd816e2
2:136598443 MCM6 A>G	2	136598443	136598443	A	G	MCM6	c.2428T>C	NM_005915.5	NP_005906.2:p.(Tyr810His)	NC_000002.11:g.136598443A>G	(Likely) benign	1 lab	8610613761
X:117700023 DOCK11 A>G	X	117700023	117700023	A	G	DOCK11	c.749A>G	NM_144658.3	NP_653259.3:p.(His250Arg)	NC_000023.10:g.117700023A>G	VUS	1 lab	8610bce0d5
1:113460441 SLC16A1 C>T	1	113460441	113460441	C	T	SLC16A1	c.587G>A	NM_001166496.1	NP_001159968.1:p.(Arg196Gln)	NC_000001.10:g.113460441C>T	VUS	1 lab	8610f0c854
16:88495531 ZNF469 C>T	16	88495531	88495531	C	T	ZNF469				NC_000016.9:g.88495531C>T	(Likely) benign	1 lab	861162ef06
16:56544822 BBS2 G>T	16	56544822	56544822	G	T	BBS2	c.483C>A	NM_031885.3	NP_114091.3:p.(Asp161Glu)	NC_000016.9:g.56544822G>T	VUS	1 lab	86142e66c9
9:135210065 SETX C>A	9	135210065	135210065	C	A	SETX	c.768G>T	NM_015046.5	NP_055861.3:p.(Leu256=)	NC_000009.11:g.135210065C>A	(Likely) benign	1 lab	8614a5a1d0
X:13767651 OFD1 T>C	X	13767651	13767651	T	C	OFD1	c.514T>C	NM_001330210.1	NP_001317139.1:p.(Leu172=)	NC_000023.10:g.13767651T>C	(Likely) benign	1 lab	8615a21ee9
18:21113356 NPC1 G>A	18	21113356	21113356	G	A	NPC1	c.3717C>T	NM_000271.4	NP_000262.2:p.(His1239=)	NC_000018.9:g.21113356G>A	(Likely) benign	1 lab	8616ca9a68
10:73111310 SLC29A3 T>C	10	73111310	73111310	T	C	SLC29A3	c.384-9T>C	NM_001174098.1	NP_001167569.1:p.?	NC_000010.10:g.73111310T>C	(Likely) benign	1 lab	861c001d47
1:11103030 MASP2 G>A	1	11103030	11103030	G	A	MASP2	c.791C>T	NM_006610.3	NP_006601.2:p.(Pro264Leu)	NC_000001.10:g.11103030G>A	VUS	1 lab	861c794d24
16:2376240 ABCA3 G>T	16	2376240	2376240	G	T	ABCA3	c.90C>A	NM_001089.2	NP_001080.2:p.(Phe30Leu)	NC_000016.9:g.2376240G>T	(Likely) benign	1 lab	861e5cafcb
5:41159242 C6 G>A	5	41159242	41159242	G	A	C6	c.1798C>T	NM_001115131.2	NP_001108603.2:p.(Arg600Cys)	NC_000005.9:g.41159242G>A	(Likely) benign	1 lab	861eb199b0
9:139992294 MAN1B1 T>G	9	139992294	139992294	T	G	MAN1B1	c.635T>G	NM_016219.4	NP_057303.2:p.(Val212Gly)	NC_000009.11:g.139992294T>G	VUS	1 lab	86229eb3c9
16:89811483 FANCA T>C	16	89811483	89811483	T	C	FANCA	c.3514-4A>G	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89811483T>C	(Likely) benign	1 lab	862383662c
11:103153746 DYNC2H1 C>CA	11	103153746	103153752	C	CA	DYNC2H1	c.10849dup	NM_001080463.1	NP_001073932.1:p.(Ile3617AsnfsTer3)	NC_000011.9:g.103153752dup	(Likely) pathogenic	1 lab	8626baf78a
6:158567844 SERAC1 G>A	6	158567844	158567844	G	A	SERAC1	c.457C>T	NM_032861.3	NP_116250.3:p.(Arg153Trp)	NC_000006.11:g.158567844G>A	VUS	1 lab	8629739913
18:29122788 DSG2 A>G	18	29122788	29122788	A	G	DSG2	c.2307A>G	NM_001943.3	NP_001934.2:p.(Glu769=)	NC_000018.9:g.29122788A>G	(Likely) benign	1 lab	862b811d1e
1:169513672 F5 A>G	1	169513672	169513672	A	G	F5	c.1837T>C	NM_000130.4	NP_000121.2:p.(Cys613Arg)	NC_000001.10:g.169513672A>G	VUS	1 lab	862e22ee0a
9:117798418 TNC C>G	9	117798418	117798418	C	G	TNC	c.5615G>C	NM_002160.3	NP_002151.2:p.(Gly1872Ala)	NC_000009.11:g.117798418C>G	VUS	1 lab	862e61ad22
4:15994002 PROM1 T>G	4	15994002	15994002	T	G	PROM1	c.1753A>C	NM_001145847.1	NP_001139319.1:p.(Ile585Leu)	NC_000004.11:g.15994002T>G	(Likely) benign	1 lab	8630dbbd88
17:73836587 UNC13D C>A	17	73836587	73836587	C	A	UNC13D	c.753+1G>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836587C>A	(Likely) pathogenic	1 lab	863116357c
7:70255022 AUTS2 G>C	7	70255022	70255022	G	C	AUTS2	c.2748G>C	NM_001127231.2	NP_001120703.1:p.(Pro916=)	NC_000007.13:g.70255022G>C	(Likely) benign	1 lab	863174ba16
17:8046756 PER1 TGAG>T	17	8046756	8046764	TGAG	T	PER1	c.2897_2899del	NM_002616.3	NP_002607.2:p.(Pro966del)	NC_000017.10:g.8046762_8046764del	VUS	1 lab	86348f1f9a
2:207652721 FASTKD2 C>A	2	207652721	207652721	C	A	FASTKD2	c.1655C>A	NM_001136194.1	NP_001129666.1:p.(Thr552Asn)	NC_000002.11:g.207652721C>A	(Likely) benign	1 lab	863564d188
8:72211337 EYA1 C>T	8	72211337	72211337	C	T	EYA1	c.771G>A	NM_000503.5	NP_000494.2:p.(Gln257=)	NC_000008.10:g.72211337C>T	(Likely) benign	1 lab	8635c2738a
3:145794602 PLOD2 G>A	3	145794602	145794602	G	A	PLOD2	c.1644C>T	NM_182943.2	NP_891988.1:p.(Asn548=)	NC_000003.11:g.145794602G>A	(Likely) benign	1 lab	8637404e23
7:19156805 TWIST1 C>T	7	19156805	19156805	C	T	TWIST1	c.140G>A	NM_000474.3	NP_000465.1:p.(Gly47Asp)	NC_000007.13:g.19156805C>T	(Likely) benign	1 lab	86376f3763
16:1639721 IFT140 G>A	16	1639721	1639721	G	A	IFT140	c.695C>T	NM_014714.3	NP_055529.2:p.(Thr232Met)	NC_000016.9:g.1639721G>A	(Likely) benign	1 lab	863aa20021
7:127975691 RBM28 AG>A	7	127975691	127975692	AG	A	RBM28	c.851del	NM_018077.3	NP_060547.2:p.(Ser284LeufsTer7)	NC_000007.13:g.127975692del	(Likely) pathogenic	1 lab	863abc6dc0
3:49167684 LAMB2 C>T	3	49167684	49167684	C	T	LAMB2	c.1205G>A	NM_002292.3	NP_002283.3:p.(Arg402Gln)	NC_000003.11:g.49167684C>T	VUS	1 lab	863f63e48c
6:10407064 TFAP2A G>A	6	10407064	10407064	G	A	TFAP2A	c.476C>T	NM_001032280.2	NP_001027451.1:p.(Pro159Leu)	NC_000006.11:g.10407064G>A	(Likely) benign	1 lab	86401de9e4
19:45862148 ERCC2 G>A	19	45862148	45862148	G	A	ERCC2	c.1188C>T	NM_001130867.1	NP_001124339.1:p.(Ser396=)	NC_000019.9:g.45862148G>A	(Likely) benign	1 lab	8641afbe10
17:29665795 NF1 T>G	17	29665795	29665795	T	G	NF1	c.6830T>G	NM_000267.3	NP_000258.1:p.(Leu2277Arg)	NC_000017.10:g.29665795T>G	VUS	1 lab	8641f49925
3:197427584 RUBCN G>A	3	197427584	197427584	G	A	RUBCN	c.981C>T	NM_001145642.4	NP_001139114.1:p.(Ser327=)	NC_000003.11:g.197427584G>A	(Likely) benign	1 lab	86425d48b3
9:77442616 TRPM6 C>T	9	77442616	77442616	C	T	TRPM6	c.841+78G>A	NM_017662.5	NP_060132.3:p.?	NC_000009.11:g.77442616C>T	(Likely) benign	1 lab	fb5677fdcf
22:18561342 PEX26 A>G	22	18561342	18561342	A	G	PEX26	c.200A>G	NM_001127649.2	NP_001121121.1:p.(Asn67Ser)	NC_000022.10:g.18561342A>G	(Likely) benign	1 lab	8644b95964
8:68024305 CSPP1 T>C	8	68024305	68024305	T	C	CSPP1	c.332+5T>C	NM_001291339.1	NP_001278268.1:p.?	NC_000008.10:g.68024305T>C	(Likely) benign	1 lab	8649131045
12:21995286 ABCC9 G>T	12	21995286	21995286	G	T	ABCC9	c.3435C>A	NM_020297.2	NP_064693.2:p.(Ala1145=)	NC_000012.11:g.21995286G>T	(Likely) benign	1 lab	864a393898
X:50659430 BMP15 C>A	X	50659430	50659430	C	A	BMP15	c.1002C>A	NM_005448.2	NP_005439.2:p.(Ser334=)	NC_000023.10:g.50659430C>A	(Likely) benign	1 lab	864d8f63bf
11:821809 PNPLA2 C>T	11	821809	821809	C	T	PNPLA2	c.369C>T	NM_020376.3	NP_065109.1:p.(Asp123=)	NC_000011.9:g.821809C>T	(Likely) benign	1 lab	864de6e76c
2:189931509 COL5A2 C>G	2	189931509	189931509	C	G	COL5A2	c.1402-1G>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189931509C>G	(Likely) pathogenic	1 lab	fb5a57c672
17:27239630 PHF12 C>T	17	27239630	27239630	C	T	PHF12	c.1959G>A	NM_001033561.2	NP_001028733.1:p.(Pro653=)	NC_000017.10:g.27239630C>T	(Likely) benign	1 lab	864df70647
12:80935870 MISSING C>T	12	80935870	80935870	C	T	MISSING				NC_000012.11:g.80935870C>T	VUS	1 lab	864e1bd8c3
11:103006557 DYNC2H1 G>A	11	103006557	103006557	G	A	DYNC2H1	c.2454G>A	NM_001080463.1	NP_001073932.1:p.(Glu818=)	NC_000011.9:g.103006557G>A	(Likely) benign	1 lab	865073c2cd
10:79814731 RPS24 T>C	10	79814731	79814731	T	C	RPS24	c.833T>C	NM_001142285.1	NP_001135757.1:p.(Phe278Ser)	NC_000010.10:g.79814731T>C	(Likely) benign	1 lab	8651fb16af
X:13641971 EGFL6 C>T	X	13641971	13641971	C	T	EGFL6	c.1215C>T	NM_001167890.1	NP_001161362.1:p.(Phe405=)	NC_000023.10:g.13641971C>T	(Likely) benign	1 lab	8653de78c4
3:195508335 MUC4 A>T	3	195508335	195508335	A	T	MUC4	c.10116T>A	NM_018406.6	NP_060876.5:p.(Gly3372=)	NC_000003.11:g.195508335A>T	(Likely) benign	1 lab	86549cc640
X:77264640 ATP7A G>A	X	77264640	77264640	G	A	ATP7A	c.1749G>A	NM_000052.6	NP_000043.4:p.(Glu583=)	NC_000023.10:g.77264640G>A	(Likely) benign	1 lab	8655522e50
15:85400505 ALPK3 G>A	15	85400505	85400505	G	A	ALPK3	c.3142G>A	NM_020778.4	NP_065829.3:p.(Gly1048Arg)	NC_000015.9:g.85400505G>A	(Likely) benign	1 lab	865563b9ed
12:4768238 NDUFA9 C>T	12	4768238	4768238	C	T	NDUFA9	c.447C>T	NM_005002.4	NP_004993.1:p.(Pro149=)	NC_000012.11:g.4768238C>T	(Likely) benign	1 lab	8655c6f7b7
2:38956836 GALM C>G	2	38956836	38956836	C	G	GALM	c.773C>G	NM_138801.3	NP_620156.1:p.(Ala258Gly)	NC_000002.11:g.38956836C>G	VUS	1 lab	8655eccdab
16:2129652 TSC2 C>T	16	2129652	2129652	C	T	TSC2	c.3379C>T	NM_001114382.2	NP_001107854.1:p.(Arg1127Trp)	NC_000016.9:g.2129652C>T	VUS	1 lab	865972da3b
X:38540450 TSPAN7 C>T	X	38540450	38540450	C	T	TSPAN7	c.598-8C>T	NM_004615.3	NP_004606.2:p.?	NC_000023.10:g.38540450C>T	(Likely) benign	1 lab	865d1c2245
1:94467518 ABCA4 G>C	1	94467518	94467518	G	C	ABCA4	c.6178C>G	NM_000350.2	NP_000341.2:p.(Leu2060Val)	NC_000001.10:g.94467518G>C	VUS	1 lab	865e9f0551
9:126134586 CRB2 C>T	9	126134586	126134586	C	T	CRB2	c.2567C>T	NM_173689.6	NP_775960.4:p.(Pro856Leu)	NC_000009.11:g.126134586C>T	VUS	1 lab	865ee96ca8
1:91784888 HFM1 G>T	1	91784888	91784888	G	T	HFM1	c.2642C>A	NM_001017975.6	NP_001017975.5:p.(Thr881Asn)	NC_000001.10:g.91784888G>T	VUS	1 lab	fb5d0e68d3
9:134387441 POMT1 C>T	9	134387441	134387441	C	T	POMT1	c.1000C>T	NM_001136113.2	NP_001129585.1:p.(Arg334Ter)	NC_000009.11:g.134387441C>T	(Likely) pathogenic	1 lab	fb5d88ef58
21:47423320 COL6A1 C>T	21	47423320	47423320	C	T	COL6A1	c.2480C>T	NM_001848.3	NP_001839.2:p.(Pro827Leu)	NC_000021.8:g.47423320C>T	VUS	1 lab	fb64fdd4f8
1:17328831 ATP13A2 G>A	1	17328831	17328831	G	A	ATP13A2	c.580C>T	NM_001141973.2	NP_001135445.1:p.(Arg194Cys)	NC_000001.10:g.17328831G>A	(Likely) benign	1 lab	8660ca9949
X:46322682 KRABD4 A>C	X	46322682	46322682	A	C	KRABD4	c.192A>C	NM_001129899.1	NP_001123371.1:p.(Glu64Asp)	NC_000023.10:g.46322682A>C	(Likely) benign	1 lab	8662f8823f
16:74761282 FA2H G>C	16	74761282	74761282	G	C	FA2H	c.366C>G	NM_024306.4	NP_077282.3:p.(Asp122Glu)	NC_000016.9:g.74761282G>C	VUS	1 lab	8663ef36ba
X:48931605 PRAF2 G>T	X	48931605	48931605	G	T	PRAF2	c.42C>A	NM_007213.3	NP_009144.1:p.(Asp14Glu)	NC_000023.10:g.48931605G>T	VUS	1 lab	866490a663
14:76173362 TTLL5 C>T	14	76173362	76173362	C	T	TTLL5	c.587C>T	NM_015072.4	NP_055887.3:p.(Pro196Leu)	NC_000014.8:g.76173362C>T	VUS	1 lab	866870a22e
11:93523803 MED17 T>C	11	93523803	93523803	T	C	MED17	c.481T>C	NM_004268.4	NP_004259.3:p.(Leu161=)	NC_000011.9:g.93523803T>C	(Likely) benign	1 lab	8668dd83a3
X:18671565 CDKL5 C>T	X	18671565	18671565	C	T	CDKL5	c.2994C>T	NM_003159.2	NP_003150.1:p.(Phe998=)	NC_000023.10:g.18671565C>T	(Likely) benign	1 lab	8669244a30
19:51914410 SIGLEC10 A>G	19	51914410	51914410	A	G	SIGLEC10	c.2037T>C	NM_033130.5	NP_149121.2:p.(Pro679=)	NC_000019.9:g.51914410A>G	(Likely) benign	1 lab	86697759ed
12:6952841 GNB3 C>T	12	6952841	6952841	C	T	GNB3	c.476C>T	NM_002075.3	NP_002066.1:p.(Thr159Ile)	NC_000012.11:g.6952841C>T	VUS	1 lab	8669a4811e
21:47850033 PCNT G>A	21	47850033	47850033	G	A	PCNT	c.7800G>A	NM_006031.5	NP_006022.3:p.(Ala2600=)	NC_000021.8:g.47850033G>A	(Likely) benign	1 lab	866c61e4a9
1:89728450 GBP5 T>A	1	89728450	89728450	T	A	GBP5	c.1381A>T	NM_052942.3	NP_443174.1:p.(Lys461Ter)	NC_000001.10:g.89728450T>A	VUS	1 lab	866d3b3cd4
X:48546836 WAS C>T	X	48546836	48546836	C	T	WAS	c.925C>T	NM_000377.2	NP_000368.1:p.(Arg309Cys)	NC_000023.10:g.48546836C>T	(Likely) benign	1 lab	866e36a77a
7:31918638 PDE1C G>A	7	31918638	31918638	G	A	PDE1C	c.576C>T	NM_001322058.1	NP_001308987.1:p.(His192=)	NC_000007.13:g.31918638G>A	(Likely) benign	1 lab	866e470a07
3:123457867 MYLK G>T	3	123457867	123457867	G	T	MYLK	c.465C>A	NM_053025.3	NP_444253.3:p.(Ile155=)	NC_000003.11:g.123457867G>T	(Likely) benign	1 lab	866e478712
1:216595364 USH2A G>A	1	216595364	216595364	G	A	USH2A	c.315C>T	NM_206933.2	NP_996816.2:p.(Leu105=)	NC_000001.10:g.216595364G>A	(Likely) benign	1 lab	866e735bd6
11:57427205 CLP1 A>G	11	57427205	57427205	A	G	CLP1	c.257A>G	NM_006831.2	NP_006822.1:p.(Lys86Arg)	NC_000011.9:g.57427205A>G	(Likely) benign	1 lab	866ffd9f57
19:10472571 TYK2 C>T	19	10472571	10472571	C	T	TYK2	c.1834G>A	NM_003331.4	NP_003322.3:p.(Gly612Ser)	NC_000019.9:g.10472571C>T	(Likely) benign	1 lab	8670471f81
X:142121900 SPANXN4 C>A	X	142121900	142121900	C	A	SPANXN4	c.168C>A	NM_001009613.2	NP_001009613.1:p.(Cys56Ter)	NC_000023.10:g.142121900C>A	VUS	1 lab	8671205041
20:3128607 FASTKD5 G>A	20	3128607	3128607	G	A	FASTKD5	c.1110C>T	NM_021826.5	NP_068598.1:p.(His370=)	NC_000020.10:g.3128607G>A	(Likely) benign	1 lab	86723d9ce5
18:20572770 RBBP8 C>T	18	20572770	20572770	C	T	RBBP8	c.980C>T	NM_002894.2	NP_002885.1:p.(Ser327Phe)	NC_000018.9:g.20572770C>T	VUS	1 lab	8674a84fcf
14:55369157 GCH1 G>A	14	55369157	55369157	G	A	GCH1	c.225C>T	NM_000161.2	NP_000152.1:p.(Tyr75=)	NC_000014.8:g.55369157G>A	(Likely) benign	1 lab	8676b9e796
15:38641627 SPRED1 C>T	15	38641627	38641627	C	T	SPRED1	c.587C>T	NM_152594.2	NP_689807.1:p.(Thr196Ile)	NC_000015.9:g.38641627C>T	(Likely) benign	1 lab	86771ebfbf
X:53432736 SMC1A C>T	X	53432736	53432736	C	T	SMC1A	c.1632G>A	NM_001281463.1	NP_001268392.1:p.(Glu544=)	NC_000023.10:g.53432736C>T	(Likely) benign	1 lab	86776bc237
X:66941795 AR C>G	X	66941795	66941795	C	G	AR	c.2439C>G	NM_000044.4	NP_000035.2:p.(Leu813=)	NC_000023.10:g.66941795C>G	(Likely) benign	1 lab	86778d80d0
14:29237798 FOXG1 C>T	14	29237798	29237798	C	T	FOXG1	c.1313C>T	NM_005249.5	NP_005240.3:p.(Ala438Val)	NC_000014.8:g.29237798C>T	(Likely) benign	1 lab	fb68692fda
11:118352434 KMT2A G>A	11	118352434	118352434	G	A	KMT2A	c.3639G>A	NM_001197104.1	NP_001184033.1:p.(Val1213=)	NC_000011.9:g.118352434G>A	(Likely) benign	1 lab	86780ebe97
16:419095 MRPL28 A>C	16	419095	419095	A	C	MRPL28	c.414T>G	NM_006428.4	NP_006419.2:p.(Ala138=)	NC_000016.9:g.419095A>C	(Likely) benign	1 lab	86787c1530
18:67872503 RTTN C>T	18	67872503	67872503	C	T	RTTN	c.80G>A	NM_173630.3	NP_775901.3:p.(Cys27Tyr)	NC_000018.9:g.67872503C>T	VUS	1 lab	86787d2779
12:56993078 BAZ2A C>T	12	56993078	56993078	C	T	BAZ2A	c.5237G>A	NM_001300905.1	NP_001287834.1:p.(Gly1746Asp)	NC_000012.11:g.56993078C>T	(Likely) benign	1 lab	867955098e
10:73472554 CDH23 G>T	10	73472554	73472554	G	T	CDH23	c.3353G>T	NM_022124.5	NP_071407.4:p.(Gly1118Val)	NC_000010.10:g.73472554G>T	VUS	1 lab	867a85508a
14:21869159 CHD8 G>A	14	21869159	21869159	G	A	CHD8	c.4245C>T	NM_001170629.1	NP_001164100.1:p.(Asp1415=)	NC_000014.8:g.21869159G>A	(Likely) benign	1 lab	867eea21be
12:64202890 RXYLT1 CAT>C	12	64202890	64202892	CAT	C	RXYLT1	c.*19_*20del	NM_014254.3	NP_055069.1:p.?	NC_000012.11:g.64202891_64202892del	(Likely) benign	1 lab	867f5928a5
17:29557331 NF1 T>G	17	29557331	29557331	T	G	NF1	c.3044T>G	NM_000267.3	NP_000258.1:p.(Leu1015Arg)	NC_000017.10:g.29557331T>G	(Likely) pathogenic	1 lab	867f96bdfb
17:41720892 MEOX1 A>G	17	41720892	41720892	A	G	MEOX1	c.606T>C	NM_004527.3	NP_004518.1:p.(Tyr202=)	NC_000017.10:g.41720892A>G	(Likely) benign	1 lab	8682306337
9:120476788 TLR4 C>A	9	120476788	120476788	C	A	TLR4	c.2262C>A	NM_003266.3	NP_003257.1:p.(Tyr754Ter)	NC_000009.11:g.120476788C>A	VUS	1 lab	868348fd2d
16:3080767 BICDL2 C>T	16	3080767	3080767	C	T	BICDL2	c.545G>A	NM_001103175.1	NP_001096645.1:p.(Arg182Gln)	NC_000016.9:g.3080767C>T	VUS	1 lab	86849f71c1
6:152751303 SYNE1 G>A	6	152751303	152751303	G	A	SYNE1	c.4732C>T	NM_182961.3	NP_892006.3:p.(Pro1578Ser)	NC_000006.11:g.152751303G>A	VUS	1 lab	86853b4c87
12:88523489 CEP290 G>A	12	88523489	88523489	G	A	CEP290	c.834C>T	NM_025114.3	NP_079390.3:p.(Asn278=)	NC_000012.11:g.88523489G>A	(Likely) benign	1 lab	8685849edc
9:139417447 NOTCH1 G>A	9	139417447	139417447	G	A	NOTCH1	c.597C>T	NM_017617.5	NP_060087.3:p.(Val199=)	NC_000009.11:g.139417447G>A	(Likely) benign	1 lab	86877fcbed
5:141336115 PCDH12 G>T	5	141336115	141336115	G	T	PCDH12	c.1302C>A	NM_016580.3	NP_057664.1:p.(Asp434Glu)	NC_000005.9:g.141336115G>T	VUS	1 lab	8688ad67aa
10:73498261 CDH23 A>G	10	73498261	73498261	A	G	CDH23	c.4216A>G	NM_022124.5	NP_071407.4:p.(Ile1406Val)	NC_000010.10:g.73498261A>G	(Likely) benign	1 lab	8688e5ca96
20:31022642 ASXL1 C>T	20	31022642	31022642	C	T	ASXL1	c.2127C>T	NM_015338.5	NP_056153.2:p.(Ala709=)	NC_000020.10:g.31022642C>T	(Likely) benign	1 lab	868a8e4cdd
16:72993799 ZFHX3 G>A	16	72993799	72993799	G	A	ZFHX3	c.246C>T	NM_006885.3	NP_008816.3:p.(Asn82=)	NC_000016.9:g.72993799G>A	(Likely) benign	1 lab	868ac5a8fb
2:179469588 TTN G>A	2	179469588	179469588	G	A	TTN	c.54228C>T	NM_001267550.1	NP_001254479.1:p.(Asp18076=)	NC_000002.11:g.179469588G>A	VUS	1 lab	868d88a18b
1:45479447 UROD G>A	1	45479447	45479447	G	A	UROD	c.458G>A	NM_000374.5	NP_000365.3:p.(Gly153Asp)	NC_000001.10:g.45479447G>A	VUS	1 lab	868deceb9f
9:2651962 VLDLR G>T	9	2651962	2651962	G	T	VLDLR	c.2416+8G>T	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2651962G>T	(Likely) benign	1 lab	86af64046e
17:76116758 TMC6 G>A	17	76116758	76116758	G	A	TMC6	c.1691C>T	NM_001127198.2	NP_001120670.1:p.(Thr564Met)	NC_000017.10:g.76116758G>A	VUS	1 lab	869160472b
19:50028734 FCGRT G>T	19	50028734	50028734	G	T	FCGRT	c.892G>T	NM_001136019.2	NP_001129491.1:p.(Val298Leu)	NC_000019.9:g.50028734G>T	(Likely) benign	1 lab	8697d13b03
18:77477835 CTDP1 G>A	18	77477835	77477835	G	A	CTDP1	c.2236G>A	NM_004715.4	NP_004706.3:p.(Asp746Asn)	NC_000018.9:g.77477835G>A	VUS	1 lab	8699229e20
17:78079574 GAA C>A	17	78079574	78079574	C	A	GAA	c.573C>A	NM_000152.3	NP_000143.2:p.(Tyr191Ter)	NC_000017.10:g.78079574C>A	(Likely) pathogenic	1 lab	86992ac053
12:21958946 ABCC9 C>T	12	21958946	21958946	C	T	ABCC9	c.4498G>A	NM_020297.2	NP_064693.2:p.(Val1500Met)	NC_000012.11:g.21958946C>T	VUS	1 lab	869a23e8c4
8:141461429 TRAPPC9 G>A	8	141461429	141461429	G	A	TRAPPC9	c.44C>T	NM_001321646.1	NP_001308575.1:p.(Thr15Met)	NC_000008.10:g.141461429G>A	VUS	1 lab	869ae04d30
15:28421900 HERC2 G>A	15	28421900	28421900	G	A	HERC2	c.9447C>T	NM_004667.5	NP_004658.3:p.(Leu3149=)	NC_000015.9:g.28421900G>A	(Likely) benign	1 lab	869cca935d
19:13411359 CACNA1A C>T	19	13411359	13411359	C	T	CACNA1A	c.2282+5G>A	NM_001127221.2	NP_001120693.1:p.?	NC_000019.9:g.13411359C>T	(Likely) pathogenic	1 lab	fb78a3e5e4
19:33353458 SLC7A9 C>A	19	33353458	33353458	C	A	SLC7A9	c.513G>T	NM_001243036.1	NP_001229965.1:p.(Arg171=)	NC_000019.9:g.33353458C>A	(Likely) benign	1 lab	869e2f07f7
20:10630354 JAG1 G>GA	20	10630354	10630356	G	GA	JAG1	c.1235-72dup	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10630356dup	(Likely) benign	1 lab	86a1644565
14:76452150 IFT43 G>A	14	76452150	76452150	G	A	IFT43	c.21G>A	NM_001255995.1	NP_001242924.1:p.(Leu7=)	NC_000014.8:g.76452150G>A	(Likely) benign	1 lab	86a2739039
6:65300616 EYS T>C	6	65300616	65300616	T	C	EYS	c.5144A>G	NM_001292009.1	NP_001278938.1:p.(Glu1715Gly)	NC_000006.11:g.65300616T>C	VUS	1 lab	86a6eefb29
1:57420390 C8B G>T	1	57420390	57420390	G	T	C8B	c.346C>A	NM_001278543.1	NP_001265472.1:p.(Gln116Lys)	NC_000001.10:g.57420390G>T	VUS	1 lab	86a7d44ab5
11:101454141 TRPC6 G>T	11	101454141	101454141	G	T	TRPC6	c.94C>A	NM_004621.5	NP_004612.2:p.(Leu32Met)	NC_000011.9:g.101454141G>T	VUS	1 lab	86a8fe5fc0
2:166210995 SCN2A A>C	2	166210995	166210995	A	C	SCN2A	c.3213A>C	NM_021007.2	NP_066287.2:p.(Gly1071=)	NC_000002.11:g.166210995A>C	(Likely) benign	1 lab	86ab6ad65b
6:32037914 TNXB G>A	6	32037914	32037914	G	A	TNXB	c.5268C>T	NM_019105.6	NP_061978.6:p.(Asp1756=)	NC_000006.11:g.32037914G>A	(Likely) benign	1 lab	86ac7a74b8
17:7750593 KDM6B TAGAG>T	17	7750593	7750601	TAGAG	T	KDM6B	c.1085_1088del	NM_001348716.2	NP_001335645.1:p.(Glu362AlafsTer124)	NC_000017.10:g.7750598_7750601del	VUS	1 lab	86ac8ca73e
X:106845111 FRMPD3 G>A	X	106845111	106845111	G	A	FRMPD3	c.3941G>A	NM_032428.2	NP_115804.1:p.(Arg1314His)	NC_000023.10:g.106845111G>A	(Likely) benign	1 lab	86adbcb36a
3:171455415 PLD1 T>C	3	171455415	171455415	T	C	PLD1	c.195A>G	NM_002662.4	NP_002653.1:p.(Gln65=)	NC_000003.11:g.171455415T>C	(Likely) benign	1 lab	86ae2f66ba
X:99662480 PCDH19 C>T	X	99662480	99662480	C	T	PCDH19	c.1116G>A	NM_001184880.1	NP_001171809.1:p.(Arg372=)	NC_000023.10:g.99662480C>T	(Likely) benign	1 lab	86aeeeb74a
X:79279592 TBX22 G>T	X	79279592	79279592	G	T	TBX22	c.387G>T	NM_001109878.1	NP_001103348.1:p.(Val129=)	NC_000023.10:g.79279592G>T	(Likely) benign	1 lab	86af6f3793
21:44483130 CBS G>A	21	44483130	44483130	G	A	CBS	c.572C>T	NM_001321072.1	NP_001308001.1:p.(Thr191Met)	NC_000021.8:g.44483130G>A	VUS	1 lab	86afcc7a07
19:54297343 NLRP12 G>A	19	54297343	54297343	G	A	NLRP12	c.3149C>T	NM_001277126.1	NP_001264055.1:p.(Ala1050Val)	NC_000019.9:g.54297343G>A	(Likely) benign	1 lab	86b1f48f28
4:6303277 WFS1 C>T	4	6303277	6303277	C	T	WFS1	c.1755C>T	NM_006005.3	NP_005996.2:p.(Phe585=)	NC_000004.11:g.6303277C>T	(Likely) benign	1 lab	86b236c7ee
6:111699015 REV3L T>C	6	111699015	111699015	T	C	REV3L	c.1252A>G	NM_001286431.1	NP_001273360.1:p.(Thr418Ala)	NC_000006.11:g.111699015T>C	VUS	1 lab	86b273603d
6:32731258 HLA-DQB2 G>A	6	32731258	32731258	G	A	HLA-DQB2	c.-11C>T	NM_001198858.2	NP_001185787.1:p.?	NC_000006.11:g.32731258G>A	(Likely) benign	1 lab	fb809cfbd0
12:57423517 MYO1A C>T	12	57423517	57423517	C	T	MYO1A	c.2724+7G>A	NM_001256041.1	NP_001242970.1:p.?	NC_000012.11:g.57423517C>T	(Likely) benign	1 lab	86b9e92cea
3:33087628 GLB1 C>T	3	33087628	33087628	C	T	GLB1	c.1196G>A	NM_001317040.2	NP_001303969.2:p.(Arg399Gln)	NC_000003.11:g.33087628C>T	VUS	1 lab	fb8159d99e
11:71146862 DHCR7 G>A	11	71146862	71146862	G	A	DHCR7	c.987C>T	NM_001360.2	NP_001351.2:p.(Pro329=)	NC_000011.9:g.71146862G>A	(Likely) benign	1 lab	86bc8c7c5a
18:67872512 RTTN C>G	18	67872512	67872512	C	G	RTTN	c.71G>C	NM_173630.3	NP_775901.3:p.(Ser24Thr)	NC_000018.9:g.67872512C>G	(Likely) benign	1 lab	86bd1289ae
14:104575640 ASPG C>T	14	104575640	104575640	C	T	ASPG	c.1508C>T	NM_001080464.3	NP_001073933.2:p.(Thr503Met)	NC_000014.8:g.104575640C>T	VUS	1 lab	86be3ae3b9
9:429714 DOCK8 C>T	9	429714	429714	C	T	DOCK8	c.4486C>T	NM_203447.3	NP_982272.2:p.(Leu1496Phe)	NC_000009.11:g.429714C>T	VUS	1 lab	86bf4ebbb3
12:9344844 PZP A>G	12	9344844	9344844	A	G	PZP	c.1491T>C	NM_002864.2	NP_002855.2:p.(Ala497=)	NC_000012.11:g.9344844A>G	(Likely) benign	1 lab	86bf6ad343
2:167055201 SCN9A C>A	2	167055201	167055201	C	A	SCN9A	c.5915G>T	NM_002977.3	NP_002968.1:p.(Ser1972Ile)	NC_000002.11:g.167055201C>A	(Likely) benign	1 lab	86c1453e23
11:6650813 DCHS1 G>C	11	6650813	6650813	G	C	DCHS1				NC_000011.9:g.6650813G>C	(Likely) benign	1 lab	8ef1f1cca5
6:161470221 MAP3K4 G>A	6	161470221	161470221	G	A	MAP3K4	c.917G>A	NM_001301072.1	NP_001288001.1:p.(Gly306Glu)	NC_000006.11:g.161470221G>A	VUS	1 lab	86c16e73a9
4:48112571 TXK T>C	4	48112571	48112571	T	C	TXK	c.430A>G	NM_003328.3	NP_003319.2:p.(Asn144Asp)	NC_000004.11:g.48112571T>C	(Likely) benign	1 lab	86c3fdcce4
22:29120965 CHEK2 C>G	22	29120965	29120965	C	G	CHEK2	c.592G>C	NM_007194.4	NP_009125.1:p.(Val198Leu)	NC_000022.10:g.29120965C>G	(Likely) pathogenic	1 lab	fb820ee0f7
17:73949532 ACOX1 C>T	17	73949532	73949532	C	T	ACOX1	c.830G>A	NM_001185039.1	NP_001171968.1:p.(Gly277Asp)	NC_000017.10:g.73949532C>T	VUS	1 lab	86cc1292a0
17:29652988 NF1 GT>G	17	29652988	29652991	GT	G	NF1	c.4989del	NM_001042492.3	NP_001035957.1:p.(Phe1663LeufsTer35)	NC_000017.10:g.29652991del	(Likely) pathogenic	1 lab	86cdbe82c5
2:26725208 OTOF C>A	2	26725208	26725208	C	A	OTOF	c.670G>T	NM_194248.2	NP_919224.1:p.(Ala224Ser)	NC_000002.11:g.26725208C>A	VUS	1 lab	86cebd8699
2:167159786 SCN9A T>C	2	167159786	167159786	T	C	SCN9A	c.715A>G	NM_002977.3	NP_002968.1:p.(Ile239Val)	NC_000002.11:g.167159786T>C	VUS	1 lab	86cec3e4ca
7:91855839 KRIT1 C>T	7	91855839	91855839	C	T	KRIT1	c.1146+1G>A	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91855839C>T	(Likely) pathogenic	1 lab	86cfa04388
15:31197704 FAN1 GA>G	15	31197704	31197706	GA	G	FAN1	c.840del	NM_014967.5	NP_055782.3:p.(Asp281ThrfsTer4)	NC_000015.9:g.31197706del	(Likely) pathogenic	1 lab	86d0694057
17:29588775 NF1 CT>C	17	29588775	29588777	CT	C	NF1	c.4626del	NM_001042492.3	NP_001035957.1:p.(Ala1544HisfsTer30)	NC_000017.10:g.29588777del	(Likely) pathogenic	1 lab	86d07669ba
X:153694535 PLXNA3 G>C	X	153694535	153694535	G	C	PLXNA3	c.2721G>C	NM_017514.4	NP_059984.3:p.(Pro907=)	NC_000023.10:g.153694535G>C	(Likely) benign	1 lab	86d1eacd12
15:34553217 SLC12A6 G>A	15	34553217	34553217	G	A	SLC12A6	c.321C>T	NM_001365088.1	NP_001352017.1:p.(Asp107=)	NC_000015.9:g.34553217G>A	(Likely) benign	1 lab	86d30c4f0d
X:138878510 ATP11C C>A	X	138878510	138878510	C	A	ATP11C	c.1137G>T	NM_173694.4	NP_775965.2:p.(Trp379Cys)	NC_000023.10:g.138878510C>A	VUS	1 lab	86d33d02d6
2:170025082 LRP2 C>T	2	170025082	170025082	C	T	LRP2	c.11602G>A	NM_004525.3	NP_004516.2:p.(Gly3868Ser)	NC_000002.11:g.170025082C>T	VUS	1 lab	86d3b103d4
19:52888071 ZNF880 G>T	19	52888071	52888071	G	T	ZNF880	c.1238G>T	NM_001145434.2	NP_001138906.1:p.(Cys413Phe)	NC_000019.9:g.52888071G>T	(Likely) benign	1 lab	86d7435717
21:33727861 URB1 G>A	21	33727861	33727861	G	A	URB1	c.2003C>T	NM_014825.3	NP_055640.2:p.(Thr668Met)	NC_000021.8:g.33727861G>A	VUS	1 lab	86d768fe09
15:40921548 KNL1 A>G	15	40921548	40921548	A	G	KNL1	c.5739A>G	NM_170589.4	NP_733468.3:p.(Arg1913=)	NC_000015.9:g.40921548A>G	(Likely) benign	1 lab	86d86a6b08
5:14462959 TRIO C>T	5	14462959	14462959	C	T	TRIO	c.5592C>T	NM_007118.3	NP_009049.2:p.(Ala1864=)	NC_000005.9:g.14462959C>T	(Likely) benign	1 lab	86dda7dd27
1:235922677 LYST C>T	1	235922677	235922677	C	T	LYST	c.6476G>A	NM_001301365.1	NP_001288294.1:p.(Gly2159Asp)	NC_000001.10:g.235922677C>T	(Likely) benign	1 lab	86de51c749
19:55401191 FCAR G>A	19	55401191	55401191	G	A	FCAR	c.826G>A	NM_002000.4	NP_001991.1:p.(Gly276Arg)	NC_000019.9:g.55401191G>A	(Likely) benign	1 lab	86e0cd680e
19:17448814 GTPBP3 C>T	19	17448814	17448814	C	T	GTPBP3	c.54-3C>T	NM_133644.3	NP_598399.2:p.?	NC_000019.9:g.17448814C>T	VUS	1 lab	86e11b6392
15:52643564 MYO5A G>A	15	52643564	52643564	G	A	MYO5A	c.3736C>T	NM_000259.3	NP_000250.3:p.(Arg1246Cys)	NC_000015.9:g.52643564G>A	(Likely) benign	1 lab	fb8a66f989
19:48647192 LIG1 C>T	19	48647192	48647192	C	T	LIG1	c.805G>A	NM_000234.3	NP_000225.1:p.(Ala269Thr)	NC_000019.9:g.48647192C>T	VUS	1 lab	fd1c3e6fed
12:122261335 SETD1B C>T	12	122261335	122261335	C	T	SETD1B	c.4850C>T	NM_001353345.2	NP_001340274.1:p.(Ala1617Val)	NC_000012.11:g.122261335C>T	VUS	1 lab	fb8b670d7d
18:675344 ENOSF1 G>A	18	675344	675344	G	A	ENOSF1	c.1207C>T	NM_017512.7	NP_059982.2:p.(Arg403Trp)	NC_000018.9:g.675344G>A	VUS	1 lab	86e447fe09
14:51375683 PYGL A>T	14	51375683	51375683	A	T	PYGL	c.2178-10T>A	NM_002863.4	NP_002854.3:p.?	NC_000014.8:g.51375683A>T	(Likely) benign	1 lab	86e50bdde0
17:73520380 TSEN54 C>T	17	73520380	73520380	C	T	TSEN54	c.1468C>T	NM_207346.2	NP_997229.2:p.(Arg490Trp)	NC_000017.10:g.73520380C>T	(Likely) benign	1 lab	86e52d0d2e
15:99465578 IGF1R C>T	15	99465578	99465578	C	T	IGF1R	c.2403C>T	NM_000875.4	NP_000866.1:p.(Ile801=)	NC_000015.9:g.99465578C>T	(Likely) benign	1 lab	86e6da96a8
16:83214529 CDH13 G>A	16	83214529	83214529	G	A	CDH13	c.538G>A	NM_001220491.1	NP_001207420.1:p.(Asp180Asn)	NC_000016.9:g.83214529G>A	(Likely) benign	1 lab	86e6f1ee91
6:33156920 COL11A2 C>T	6	33156920	33156920	C	T	COL11A2	c.278G>A	NM_080680.2	NP_542411.2:p.(Arg93His)	NC_000006.11:g.33156920C>T	VUS	1 lab	86e9417e38
6:31609116 BAG6 C>T	6	31609116	31609116	C	T	BAG6	c.2553G>A	NM_004639.3	NP_004630.3:p.(Ala851=)	NC_000006.11:g.31609116C>T	(Likely) benign	1 lab	86ea8d031c
19:38573158 SIPA1L3 C>T	19	38573158	38573158	C	T	SIPA1L3	c.953C>T	NM_015073.2	NP_055888.1:p.(Pro318Leu)	NC_000019.9:g.38573158C>T	(Likely) benign	1 lab	86eaaa71f2
2:179396893 TTN C>T	2	179396893	179396893	C	T	TTN	c.99526G>A	NM_001256850.1	NP_001243779.1:p.(Glu33176Lys)	NC_000002.11:g.179396893C>T	VUS	1 lab	fb8dda6ad7
21:47845763 PCNT C>T	21	47845763	47845763	C	T	PCNT	c.7198C>T	NM_006031.5	NP_006022.3:p.(Arg2400Cys)	NC_000021.8:g.47845763C>T	(Likely) benign	1 lab	86eda70a53
1:43907740 SZT2 T>A	1	43907740	43907740	T	A	SZT2	c.7641T>A	NM_015284.3	NP_056099.3:p.(Ala2547=)	NC_000001.10:g.43907740T>A	(Likely) benign	1 lab	86ee20697a
3:167437869 PDCD10 A>C	3	167437869	167437869	A	C	PDCD10	c.77T>G	NM_007217.3	NP_009148.2:p.(Met26Arg)	NC_000003.11:g.167437869A>C	(Likely) pathogenic	1 lab	86ee657b05
18:76754759 SALL3 G>A	18	76754759	76754759	G	A	SALL3	c.2768G>A	NM_171999.3	NP_741996.2:p.(Gly923Asp)	NC_000018.9:g.76754759G>A	(Likely) benign	1 lab	86ee699e83
6:31927839 SKIC2 A>G	6	31927839	31927839	A	G	SKIC2	c.179A>G	NM_006929.4	NP_008860.4:p.(Gln60Arg)	NC_000006.11:g.31927839A>G	(Likely) benign	1 lab	86efe5f4d8
1:22837849 ZBTB40 C>T	1	22837849	22837849	C	T	ZBTB40	c.2002+9C>T	NM_001083621.2	NP_001077090.1:p.?	NC_000001.10:g.22837849C>T	(Likely) benign	1 lab	fb8f48b34d
17:18259294 SHMT1 A>T	17	18259294	18259294	A	T	SHMT1	c.2T>A	NM_004169.4	NP_004160.3:p.(Met1?)	NC_000017.10:g.18259294A>T	VUS	1 lab	86f24a35b4
21:47549298 COL6A2 G>A	21	47549298	47549298	G	A	COL6A2	c.2650G>A	NM_058174.2	NP_478054.2:p.(Ala884Thr)	NC_000021.8:g.47549298G>A	(Likely) benign	1 lab	86f40141f7
9:137645703 COL5A1 C>T	9	137645703	137645703	C	T	COL5A1	c.1727C>T	NM_000093.4	NP_000084.3:p.(Pro576Leu)	NC_000009.11:g.137645703C>T	VUS	1 lab	86f451d57b
3:53222835 PRKCD C>T	3	53222835	53222835	C	T	PRKCD	c.1515C>T	NM_006254.4	NP_006245.2:p.(Ala505=)	NC_000003.11:g.53222835C>T	(Likely) benign	1 lab	86f48b870c
10:78944590 KCNMA1 G>A	10	78944590	78944590	G	A	KCNMA1	c.687C>T	NM_001014797.2	NP_001014797.1:p.(Phe229=)	NC_000010.10:g.78944590G>A	(Likely) benign	1 lab	86f5225edc
4:79362326 FRAS1 G>T	4	79362326	79362326	G	T	FRAS1	c.5540G>T	NM_025074.7	NP_079350.5:p.(Gly1847Val)	NC_000004.11:g.79362326G>T	VUS	1 lab	86f5499489
11:88258513 GRM5 C>T	11	88258513	88258513	C	T	GRM5	c.2690G>A	NM_001143831.2	NP_001137303.1:p.(Gly897Glu)	NC_000011.9:g.88258513C>T	(Likely) benign	1 lab	86f600d4db
10:102782093 PDZD7 G>A	10	102782093	102782093	G	A	PDZD7	c.592C>T	NM_001195263.1	NP_001182192.1:p.(Pro198Ser)	NC_000010.10:g.102782093G>A	VUS	1 lab	86f604eed6
11:22301176 ANO5 G>C	11	22301176	22301176	G	C	ANO5	c.2607G>C	NM_213599.2	NP_998764.1:p.(Lys869Asn)	NC_000011.9:g.22301176G>C	VUS	1 lab	86f609e3b4
17:79503751 FSCN2 C>T	17	79503751	79503751	C	T	FSCN2	c.1281C>T	NM_001077182.2	NP_001070650.1:p.(Asp427=)	NC_000017.10:g.79503751C>T	(Likely) benign	1 lab	86f6652d7b
15:78458617 IDH3A G>A	15	78458617	78458617	G	A	IDH3A	c.990G>A	NM_005530.3	NP_005521.1:p.(Ala330=)	NC_000015.9:g.78458617G>A	(Likely) benign	1 lab	86fab07cc8
X:76937575 ATRX T>C	X	76937575	76937575	T	C	ATRX	c.3173A>G	NM_000489.5	NP_000480.3:p.(Asp1058Gly)	NC_000023.10:g.76937575T>C	VUS	1 lab	86fab57579
9:35091984 PIGO G>C	9	35091984	35091984	G	C	PIGO	c.1900C>G	NM_032634.3	NP_116023.2:p.(Leu634Val)	NC_000009.11:g.35091984G>C	VUS	1 lab	86fcc005f8
19:6850776 VAV1 T>C	19	6850776	6850776	T	C	VAV1	c.2217+8T>C	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6850776T>C	(Likely) benign	1 lab	86fcc9b046
9:103002391 INVS G>A	9	103002391	103002391	G	A	INVS	c.377G>A	NM_001318381.1	NP_001305310.1:p.(Arg126Gln)	NC_000009.11:g.103002391G>A	VUS	1 lab	86fcfeca70
18:76753017 SALL3 G>A	18	76753017	76753017	G	A	SALL3	c.1026G>A	NM_171999.3	NP_741996.2:p.(Thr342=)	NC_000018.9:g.76753017G>A	(Likely) benign	1 lab	86fde4bd06
8:55542076 RP1 C>A	8	55542076	55542076	C	A	RP1	c.5634C>A	NM_006269.1	NP_006260.1:p.(Val1878=)	NC_000008.10:g.55542076C>A	(Likely) benign	1 lab	86fdeddeb0
19:577793 BSG G>A	19	577793	577793	G	A	BSG	c.87G>A	NM_001728.3	NP_001719.2:p.(Pro29=)	NC_000019.9:g.577793G>A	(Likely) benign	1 lab	86fdf8e8c3
7:6861947 CCZ1B G>A	7	6861947	6861947	G	A	CCZ1B	c.487C>T	NM_198097.3	NP_932765.1:p.(Leu163Phe)	NC_000007.13:g.6861947G>A	(Likely) benign	1 lab	86fe237c84
2:1653142 PXDN C>G	2	1653142	1653142	C	G	PXDN	c.2410G>C	NM_012293.2	NP_036425.1:p.(Gly804Arg)	NC_000002.11:g.1653142C>G	VUS	1 lab	86fe40aa7f
15:89868748 POLG G>A	15	89868748	89868748	G	A	POLG	c.1882C>T	NM_002693.3	NP_002684.1:p.(Arg628Trp)	NC_000015.9:g.89868748G>A	VUS	1 lab	fb92f27547
16:88901744 GALNS G>A	16	88901744	88901744	G	A	GALNS	c.793C>T	NM_001323544.1	NP_001310473.1:p.(Arg265Trp)	NC_000016.9:g.88901744G>A	VUS	1 lab	8700a85858
3:47371622 KLHL18 G>A	3	47371622	47371622	G	A	KLHL18	c.583G>A	NM_025010.5	NP_079286.2:p.(Val195Ile)	NC_000003.11:g.47371622G>A	(Likely) benign	1 lab	8700fa4e2a
5:89924425 ADGRV1 GTC>G	5	89924425	89924430	GTC	G	ADGRV1	c.1289_1290del	NM_032119.4	NP_115495.3:p.(Ser430CysfsTer11)	NC_000005.9:g.89924429_89924430del	(Likely) pathogenic	1 lab	870174dae2
6:25042104 RIPOR2 G>T	6	25042104	25042104	G	T	RIPOR2	c.51C>A	NM_001286446.2	NP_001273375.1:p.(Asp17Glu)	NC_000006.11:g.25042104G>T	VUS	1 lab	8702ce7f23
4:151850059 LRBA A>T	4	151850059	151850059	A	T	LRBA	c.375T>A	NM_001367550.1	NP_001354479.1:p.(Leu125=)	NC_000004.11:g.151850059A>T	(Likely) benign	1 lab	87033147eb
5:176720891 NSD1 C>T	5	176720891	176720891	C	T	NSD1	c.6522C>T	NM_022455.4	NP_071900.2:p.(Phe2174=)	NC_000005.9:g.176720891C>T	(Likely) benign	1 lab	870352de6a
16:24192107 PRKCB A>G	16	24192107	24192107	A	G	PRKCB	c.1395-4A>G	NM_002738.6	NP_002729.2:p.?	NC_000016.9:g.24192107A>G	(Likely) benign	1 lab	870635bb7c
18:28666645 DSC2 C>T	18	28666645	28666645	C	T	DSC2	c.836G>A	NM_024422.6	NP_077740.1:p.(Arg279His)	NC_000018.9:g.28666645C>T	VUS	1 lab	fb94f61b9e
11:117280526 CEP164 A>C	11	117280526	117280526	A	C	CEP164	c.3941A>C	NM_014956.4	NP_055771.4:p.(Tyr1314Ser)	NC_000011.9:g.117280526A>C	(Likely) benign	1 lab	870802f5e0
19:50804920 MYH14 A>G	19	50804920	50804920	A	G	MYH14	c.5472A>G	NM_001145809.1	NP_001139281.1:p.(Val1824=)	NC_000019.9:g.50804920A>G	(Likely) benign	1 lab	8709e66f81
17:79899327 MYADML2 C>G	17	79899327	79899327	C	G	MYADML2	c.291G>C	NM_001145113.2	NP_001138585.2:p.(Leu97=)	NC_000017.10:g.79899327C>G	(Likely) benign	1 lab	870a3cfe4e
3:4747973 ITPR1 G>A	3	4747973	4747973	G	A	ITPR1	c.4735G>A	NM_001168272.1	NP_001161744.1:p.(Ala1579Thr)	NC_000003.11:g.4747973G>A	(Likely) benign	1 lab	870b9571bc
X:133087215 GPC3 G>A	X	133087215	133087215	G	A	GPC3	c.199C>T	NM_001164617.1	NP_001158089.1:p.(Pro67Ser)	NC_000023.10:g.133087215G>A	(Likely) benign	1 lab	870ccbd443
2:152547317 NEB T>C	2	152547317	152547317	T	C	NEB	c.2234A>G	NM_001271208.1	NP_001258137.1:p.(Asp745Gly)	NC_000002.11:g.152547317T>C	VUS	1 lab	870ddfa243
10:55582280 PCDH15 G>A	10	55582280	55582280	G	A	PCDH15	c.5227C>T	NM_001142763.1	NP_001136235.1:p.(His1743Tyr)	NC_000010.10:g.55582280G>A	(Likely) benign	1 lab	870e12796b
X:48814651 OTUD5 G>A	X	48814651	48814651	G	A	OTUD5	c.182C>T	NM_017602.3	NP_060072.1:p.(Pro61Leu)	NC_000023.10:g.48814651G>A	VUS	1 lab	870eb53072
2:196729501 DNAH7 C>T	2	196729501	196729501	C	T	DNAH7	c.6878G>A	NM_018897.3	NP_061720.2:p.(Arg2293Gln)	NC_000002.11:g.196729501C>T	VUS	1 lab	870f67c242
5:60628492 ZSWIM6 C>T	5	60628492	60628492	C	T	ZSWIM6	c.393C>T	NM_020928.1	NP_065979.1:p.(Gly131=)	NC_000005.9:g.60628492C>T	(Likely) benign	1 lab	87123e1fb8
11:30921124 DCDC1 G>T	11	30921124	30921124	G	T	DCDC1	c.4720C>A	NM_001367979.1	NP_001354908.1:p.(Leu1574Ile)	NC_000011.9:g.30921124G>T	VUS	1 lab	871281fca8
20:34204022 SPAG4 G>A	20	34204022	34204022	G	A	SPAG4	c.97G>A	NM_003116.2	NP_003107.1:p.(Asp33Asn)	NC_000020.10:g.34204022G>A	(Likely) benign	1 lab	87129d1cc0
14:105422952 AHNAK2 C>G	14	105422952	105422952	C	G	AHNAK2	c.288G>C	NM_138420.3	NP_612429.2:p.(Arg96=)	NC_000014.8:g.105422952C>G	(Likely) benign	1 lab	87140410ed
11:62300299 AHNAK T>C	11	62300299	62300299	T	C	AHNAK	c.1590A>G	NM_001620.2	NP_001611.1:p.(Lys530=)	NC_000011.9:g.62300299T>C	(Likely) benign	1 lab	8714caf576
9:135779798 TSC1 C>T	9	135779798	135779798	C	T	TSC1	c.2041G>A	NM_000368.4	NP_000359.1:p.(Gly681Ser)	NC_000009.11:g.135779798C>T	(Likely) pathogenic	1 lab	8715108143
15:98513890 ARRDC4 CCTAA>C	15	98513890	98513896	CCTAA	C	ARRDC4	c.1120_1123del	NM_183376.3	NP_899232.2:p.(Asn374ValfsTer34)	NC_000015.9:g.98513893_98513896del	VUS	1 lab	fb9b3c631f
3:50144300 RBM5 G>T	3	50144300	50144300	G	T	RBM5	c.953+3G>T	NM_005778.3	NP_005769.1:p.?	NC_000003.11:g.50144300G>T	VUS	1 lab	8718e86d9b
10:16870927 CUBN C>T	10	16870927	16870927	C	T	CUBN	c.10641G>A	NM_001081.3	NP_001072.2:p.(Arg3547=)	NC_000010.10:g.16870927C>T	(Likely) benign	1 lab	871923f2fb
8:30945364 WRN G>A	8	30945364	30945364	G	A	WRN	c.1504G>A	NM_000553.4	NP_000544.2:p.(Gly502Ser)	NC_000008.10:g.30945364G>A	(Likely) benign	1 lab	871a35da8a
21:45919697 TSPEAR A>C	21	45919697	45919697	A	C	TSPEAR	c.1979T>G	NM_144991.3	NP_659428.2:p.(Leu660Arg)	NC_000021.8:g.45919697A>C	VUS	1 lab	fb9c6ee8e9
8:42166541 IKBKB G>A	8	42166541	42166541	G	A	IKBKB	c.690G>A	NM_001556.3	NP_001547.1:p.(Gln230=)	NC_000008.10:g.42166541G>A	(Likely) benign	1 lab	871f36d1c8
19:11098354 SMARCA4 A>T	19	11098354	11098354	A	T	SMARCA4	c.872A>T	NM_001128844.1	NP_001122316.1:p.(Asn291Ile)	NC_000019.9:g.11098354A>T	VUS	1 lab	871fa2b2d8
10:70775585 KIFBP A>G	10	70775585	70775585	A	G	KIFBP	c.1279A>G	NM_015634.3	NP_056449.1:p.(Ser427Gly)	NC_000010.10:g.70775585A>G	VUS	1 lab	87206dc5a8
19:9000498 MUC16 T>C	19	9000498	9000498	T	C	MUC16	c.40486A>G	NM_024690.2	NP_078966.2:p.(Met13496Val)	NC_000019.9:g.9000498T>C	(Likely) benign	1 lab	8720962055
X:53610777 HUWE1 A>G	X	53610777	53610777	A	G	HUWE1	c.5261T>C	NM_031407.6	NP_113584.3:p.(Met1754Thr)	NC_000023.10:g.53610777A>G	VUS	1 lab	8720b9c160
15:45008694 B2M G>A	15	45008694	45008694	G	A	B2M	c.*14+140G>A	NM_004048.3	NP_004039.1:p.?	NC_000015.9:g.45008694G>A	(Likely) benign	1 lab	8721313da4
1:2160721 SKI C>G	1	2160721	2160721	C	G	SKI	c.516C>G	NM_003036.3	NP_003027.1:p.(Pro172=)	NC_000001.10:g.2160721C>G	(Likely) benign	1 lab	8721e0dd67
X:119694175 CUL4B G>C	X	119694175	119694175	G	C	CUL4B	c.373C>G	NM_003588.3	NP_003579.3:p.(Leu125Val)	NC_000023.10:g.119694175G>C	(Likely) benign	1 lab	8721e182cf
2:26700729 OTOF C>T	2	26700729	26700729	C	T	OTOF	c.33G>A	NM_194322.2	NP_919303.1:p.(Glu11=)	NC_000002.11:g.26700729C>T	(Likely) benign	1 lab	8723eeab00
8:48766700 PRKDC G>A	8	48766700	48766700	G	A	PRKDC	c.6837C>T	NM_001081640.1	NP_001075109.1:p.(Ile2279=)	NC_000008.10:g.48766700G>A	(Likely) benign	1 lab	8724586154
10:73553214 CDH23 C>A	10	73553214	73553214	C	A	CDH23	c.6529C>A	NM_022124.5	NP_071407.4:p.(Pro2177Thr)	NC_000010.10:g.73553214C>A	VUS	1 lab	8724698233
1:243437886 SDCCAG8 C>T	1	243437886	243437886	C	T	SDCCAG8	c.348C>T	NM_006642.4	NP_006633.1:p.(His116=)	NC_000001.10:g.243437886C>T	(Likely) benign	1 lab	87254212a3
1:8031028 PARK7 C>T	1	8031028	8031028	C	T	PARK7	c.322+5C>T	NM_007262.4	NP_009193.2:p.?	NC_000001.10:g.8031028C>T	(Likely) benign	1 lab	8728176d29
3:54661891 CACNA2D3 C>T	3	54661891	54661891	C	T	CACNA2D3	c.1041C>T	NM_018398.2	NP_060868.2:p.(Asn347=)	NC_000003.11:g.54661891C>T	(Likely) benign	1 lab	872955d444
10:28903531 WAC ACAGT>A	10	28903531	28903538	ACAGT	A	WAC	c.1342_1345del	NM_100264.3	NP_567822.1:p.(Ser448ProfsTer6)	NC_000010.10:g.28903535_28903538del	(Likely) pathogenic	1 lab	fba3567184
14:105416384 AHNAK2 T>C	14	105416384	105416384	T	C	AHNAK2	c.5404A>G	NM_138420.3	NP_612429.2:p.(Ser1802Gly)	NC_000014.8:g.105416384T>C	VUS	1 lab	872a999b3f
1:100387183 AGL T>A	1	100387183	100387183	T	A	AGL	c.4575T>A	NM_000028.2	NP_000019.2:p.(Ile1525=)	NC_000001.10:g.100387183T>A	(Likely) benign	1 lab	872baf1f0f
19:42411247 ARHGEF1 C>T	19	42411247	42411247	C	T	ARHGEF1	c.*18-10C>T	NM_199002.1	NP_945353.1:p.?	NC_000019.9:g.42411247C>T	(Likely) benign	1 lab	872be336d2
20:42815312 JPH2 C>T	20	42815312	42815312	C	T	JPH2	c.34G>A	NM_020433.5	NP_065166.2:p.(Gly12Arg)	NC_000020.10:g.42815312C>T	VUS	1 lab	fba411b9cb
X:32509544 DMD G>C	X	32509544	32509544	G	C	DMD	c.2103C>G	NM_004010.3	NP_004001.1:p.(Asn701Lys)	NC_000023.10:g.32509544G>C	(Likely) benign	1 lab	872e9d8890
1:46658016 POMGNT1 C>T	1	46658016	46658016	C	T	POMGNT1	c.1377G>A	NM_001243766.1	NP_001230695.1:p.(Lys459=)	NC_000001.10:g.46658016C>T	(Likely) benign	1 lab	872f4b95a4
18:44102102 LOXHD1 C>T	18	44102102	44102102	C	T	LOXHD1	c.5047G>A	NM_144612.6	NP_653213.6:p.(Val1683Ile)	NC_000018.9:g.44102102C>T	(Likely) benign	1 lab	87300ed22e
12:125269055 SCARB1 C>A	12	125269055	125269055	C	A	SCARB1	c.1402-1698G>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125269055C>A	(Likely) benign	1 lab	fba704ffec
18:56204410 ALPK2 C>T	18	56204410	56204410	C	T	ALPK2	c.3009G>A	NM_052947.4	NP_443179.3:p.(Arg1003=)	NC_000018.9:g.56204410C>T	(Likely) benign	1 lab	87317cbccf
19:17952573 JAK3 T>C	19	17952573	17952573	T	C	JAK3	c.862-2A>G	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17952573T>C	(Likely) pathogenic	1 lab	873320bef3
8:27641538 ESCO2 A>G	8	27641538	27641538	A	G	ESCO2	c.977A>G	NM_001017420.2	NP_001017420.1:p.(Tyr326Cys)	NC_000008.10:g.27641538A>G	VUS	1 lab	873561c1c9
6:110012671 FIG4 G>C	6	110012671	110012671	G	C	FIG4	c.33G>C	NM_014845.5	NP_055660.1:p.(Ser11=)	NC_000006.11:g.110012671G>C	(Likely) benign	1 lab	8737a9354b
16:67650791 CTCF C>G	16	67650791	67650791	C	G	CTCF	c.1086+10C>G	NM_006565.3	NP_006556.1:p.?	NC_000016.9:g.67650791C>G	(Likely) benign	1 lab	87386abfb5
6:170871049 TBP G>A	6	170871049	170871049	G	A	TBP	c.225G>A	NM_003194.5	NP_003185.1:p.(Gln75=)	NC_000006.11:g.170871049G>A	(Likely) benign	1 lab	fba896afaa
14:51226902 NIN T>C	14	51226902	51226902	T	C	NIN	c.2072A>G	NM_020921.3	NP_065972.3:p.(His691Arg)	NC_000014.8:g.51226902T>C	(Likely) benign	1 lab	87397a67c4
7:138583714 KIAA1549 A>G	7	138583714	138583714	A	G	KIAA1549	c.3834T>C	NM_001164665.1	NP_001158137.1:p.(Gly1278=)	NC_000007.13:g.138583714A>G	(Likely) benign	1 lab	8739c1c3e2
12:49436390 KMT2D T>C	12	49436390	49436390	T	C	KMT2D	c.5821A>G	NM_003482.3	NP_003473.3:p.(Met1941Val)	NC_000012.11:g.49436390T>C	(Likely) benign	1 lab	873a239dcf
1:161514484 FCGR3A G>A	1	161514484	161514484	G	A	FCGR3A	c.892+7C>T	NM_000569.7	NP_000560.6:p.?	NC_000001.10:g.161514484G>A	(Likely) benign	1 lab	873cd40af6
7:43447256 HECW1 G>A	7	43447256	43447256	G	A	HECW1	c.727G>A	NM_015052.5	NP_055867.3:p.(Ala243Thr)	NC_000007.13:g.43447256G>A	(Likely) benign	1 lab	873d53c8b3
1:2339999 PEX10 G>C	1	2339999	2339999	G	C	PEX10	c.492C>G	NM_153818.1	NP_722540.1:p.(Val164=)	NC_000001.10:g.2339999G>C	(Likely) benign	1 lab	873dc20620
1:12061483 MFN2 G>C	1	12061483	12061483	G	C	MFN2	c.842G>C	NM_014874.3	NP_055689.1:p.(Cys281Ser)	NC_000001.10:g.12061483G>C	(Likely) benign	1 lab	873dc82530
13:103514608 ERCC5 G>A	13	103514608	103514608	G	A	ERCC5	c.1109G>A	NM_000123.3	NP_000114.2:p.(Arg370His)	NC_000013.10:g.103514608G>A	(Likely) benign	1 lab	873e24e874
7:117250741 CFTR C>T	7	117250741	117250741	C	T	CFTR	c.3139+18C>T	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117250741C>T	(Likely) benign	1 lab	873e28cd48
16:89293291 ZNF778 G>T	16	89293291	89293291	G	T	ZNF778	c.511G>T	NM_182531.3	NP_872337.2:p.(Val171Leu)	NC_000016.9:g.89293291G>T	(Likely) benign	1 lab	873e77e08d
6:56504070 DST C>T	6	56504070	56504070	C	T	DST	c.2852G>A	NM_001144769.2	NP_001138241.1:p.(Arg951Gln)	NC_000006.11:g.56504070C>T	(Likely) benign	1 lab	873fc16840
16:57693335 ADGRG1 C>T	16	57693335	57693335	C	T	ADGRG1	c.1315C>T	NM_005682.6	NP_005673.3:p.(Arg439Trp)	NC_000016.9:g.57693335C>T	VUS	1 lab	874087c55b
7:5765034 RNF216 C>T	7	5765034	5765034	C	T	RNF216	c.1425G>A	NM_207111.3	NP_996994.1:p.(Leu475=)	NC_000007.13:g.5765034C>T	(Likely) benign	1 lab	87423ac10f
9:133952635 LAMC3 G>A	9	133952635	133952635	G	A	LAMC3	c.3691G>A	NM_006059.3	NP_006050.3:p.(Glu1231Lys)	NC_000009.11:g.133952635G>A	(Likely) benign	1 lab	8744dbf460
4:183601720 TENM3 G>A	4	183601720	183601720	G	A	TENM3	c.1664G>A	NM_001080477.3	NP_001073946.1:p.(Gly555Asp)	NC_000004.11:g.183601720G>A	VUS	1 lab	8744ffea0a
2:179440313 TTN CAT>C	2	179440313	179440317	CAT	C	TTN	c.70544_70545del	NM_001267550.2	NP_001254479.2:p.(Tyr23515TrpfsTer4)	NC_000002.11:g.179440316_179440317del	(Likely) pathogenic	1 lab	8745f27b91
X:128722985 OCRL C>T	X	128722985	128722985	C	T	OCRL	c.2464C>T	NM_000276.3	NP_000267.2:p.(Arg822Ter)	NC_000023.10:g.128722985C>T	(Likely) pathogenic	1 lab	8746417a6a
X:102528938 TCEAL5 C>G	X	102528938	102528938	C	G	TCEAL5	c.554G>C	NM_001012979.2	NP_001012997.1:p.(Arg185Pro)	NC_000023.10:g.102528938C>G	(Likely) benign	1 lab	8748b49eb8
3:145828099 PLOD2 T>A	3	145828099	145828099	T	A	PLOD2	c.475A>T	NM_182943.2	NP_891988.1:p.(Ile159Phe)	NC_000003.11:g.145828099T>A	(Likely) benign	1 lab	8748d3d6d4
X:85404115 DACH2 G>A	X	85404115	85404115	G	A	DACH2	c.488+3G>A	NM_001139514.1	NP_001132986.1:p.?	NC_000023.10:g.85404115G>A	(Likely) benign	1 lab	8748f4274f
15:62204043 VPS13C G>A	15	62204043	62204043	G	A	VPS13C	c.8711C>T	NM_001018088.2	NP_001018098.1:p.(Ser2904Leu)	NC_000015.9:g.62204043G>A	VUS	1 lab	8749b05ff6
10:79781376 POLR3A G>A	10	79781376	79781376	G	A	POLR3A	c.1113C>T	NM_007055.3	NP_008986.2:p.(Pro371=)	NC_000010.10:g.79781376G>A	(Likely) benign	1 lab	8749c81503
9:131370241 SPTAN1 A>G	9	131370241	131370241	A	G	SPTAN1	c.4257A>G	NM_001130438.2	NP_001123910.1:p.(Lys1419=)	NC_000009.11:g.131370241A>G	(Likely) benign	1 lab	874adab1b7
7:95818864 SLC25A13 CA>C	7	95818864	95818882	CA	C	SLC25A13	c.848+28del	NM_001160210.2	NP_001153682.1:p.?	NC_000007.13:g.95818882del	(Likely) benign	1 lab	fba924c9cb
8:126093897 WASHC5 G>A	8	126093897	126093897	G	A	WASHC5	c.518+6C>T	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126093897G>A	(Likely) benign	1 lab	874b2a7b4b
17:29483053 NF1 ACA>TAATCAG	17	29483053	29483055	ACA	TAATCAG	NF1	c.113_115delinsTAATCAG	NM_000267.3	NP_000258.1:p.(His38LeufsTer30)	NC_000017.10:g.29483053_29483055delinsTAATCAG	(Likely) pathogenic	1 lab	874b4b6779
9:117267038 WHRN G>A	9	117267038	117267038	G	A	WHRN	c.44C>T	NM_015404.3	NP_056219.3:p.(Thr15Ile)	NC_000009.11:g.117267038G>A	VUS	1 lab	874d2ae9fb
17:76459051 DNAH17 G>T	17	76459051	76459051	G	T	DNAH17	c.9049C>A	NM_173628.3	NP_775899.3:p.(Pro3017Thr)	NC_000017.10:g.76459051G>T	VUS	1 lab	875230d778
5:10239233 ATPSCKMT C>A	5	10239233	10239233	C	A	ATPSCKMT	c.252G>T	NM_199133.4	NP_954584.2:p.(Met84Ile)	NC_000005.9:g.10239233C>A	(Likely) benign	1 lab	87523285ec
10:112572652 RBM20 A>G	10	112572652	112572652	A	G	RBM20	c.2497A>G	NM_001134363.1	NP_001127835.1:p.(Arg833Gly)	NC_000010.10:g.112572652A>G	VUS	1 lab	87529f5431
10:70645828 STOX1 C>G	10	70645828	70645828	C	G	STOX1	c.2276C>G	NM_152709.5	NP_689922.3:p.(Ser759Cys)	NC_000010.10:g.70645828C>G	VUS	1 lab	8752bb1655
1:44415469 IPO13 A>G	1	44415469	44415469	A	G	IPO13	c.465A>G	NM_014652.4	NP_055467.3:p.(Ser155=)	NC_000001.10:g.44415469A>G	(Likely) benign	1 lab	8752e369ec
9:32985939 APTX T>G	9	32985939	32985939	T	G	APTX	c.543+30A>C	NM_175073.2	NP_778243.1:p.?	NC_000009.11:g.32985939T>G	(Likely) benign	1 lab	875556b567
2:110922279 NPHP1 T>C	2	110922279	110922279	T	C	NPHP1	c.757A>G	NM_000272.3	NP_000263.2:p.(Lys253Glu)	NC_000002.11:g.110922279T>C	VUS	1 lab	87561a5af4
11:124740144 ROBO3 G>A	11	124740144	124740144	G	A	ROBO3	c.850G>A	NM_022370.3	NP_071765.2:p.(Asp284Asn)	NC_000011.9:g.124740144G>A	VUS	1 lab	87567fae06
2:191850376 STAT1 T>A	2	191850376	191850376	T	A	STAT1	c.1232A>T	NM_007315.3	NP_009330.1:p.(Glu411Val)	NC_000002.11:g.191850376T>A	VUS	1 lab	8756c94def
6:53152705 ELOVL5 G>C	6	53152705	53152705	G	C	ELOVL5	c.282C>G	NM_001242828.1	NP_001229757.1:p.(Ala94=)	NC_000006.11:g.53152705G>C	(Likely) benign	1 lab	87571452cb
17:63164327 RGS9 G>A	17	63164327	63164327	G	A	RGS9	c.510G>A	NM_003835.3	NP_003826.2:p.(Lys170=)	NC_000017.10:g.63164327G>A	(Likely) benign	1 lab	87571b6b12
11:94533152 AMOTL1 A>T	11	94533152	94533152	A	T	AMOTL1	c.796A>T	NM_130847.3	NP_570899.1:p.(Met266Leu)	NC_000011.9:g.94533152A>T	VUS	1 lab	fbac67ea04
7:4824648 AP5Z1 C>T	7	4824648	4824648	C	T	AP5Z1	c.900C>T	NM_014855.3	NP_055670.1:p.(Tyr300=)	NC_000007.13:g.4824648C>T	(Likely) benign	1 lab	875916a0fe
17:8134752 CTC1 G>A	17	8134752	8134752	G	A	CTC1	c.2511C>T	NM_025099.6	NP_079375.3:p.(Cys837=)	NC_000017.10:g.8134752G>A	(Likely) benign	1 lab	875a333725
20:62101689 KCNQ2 G>A	20	62101689	62101689	G	A	KCNQ2	c.296+1832C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62101689G>A	VUS	1 lab	fbac713c2d
12:58120376 AGAP2 C>A	12	58120376	58120376	C	A	AGAP2	c.3538G>T	NM_001122772.2	NP_001116244.1:p.(Ala1180Ser)	NC_000012.11:g.58120376C>A	(Likely) benign	1 lab	875e628126
11:111896438 DLAT C>G	11	111896438	111896438	C	G	DLAT	c.242C>G	NM_001931.4	NP_001922.2:p.(Pro81Arg)	NC_000011.9:g.111896438C>G	VUS	1 lab	875f90e014
9:2192733 SMARCA2 T>C	9	2192733	2192733	T	C	SMARCA2	c.4767T>C	NM_003070.4	NP_003061.3:p.(Asp1589=)	NC_000009.11:g.2192733T>C	(Likely) benign	1 lab	876002f63c
16:89348972 ANKRD11 C>T	16	89348972	89348972	C	T	ANKRD11	c.3978G>A	NM_001256182.1	NP_001243111.1:p.(Thr1326=)	NC_000016.9:g.89348972C>T	(Likely) benign	1 lab	8762cdf486
X:153663712 ATP6AP1 A>T	X	153663712	153663712	A	T	ATP6AP1	c.1064A>T	NM_001183.5	NP_001174.2:p.(Tyr355Phe)	NC_000023.10:g.153663712A>T	(Likely) benign	1 lab	876436ec1a
X:70836515 CXCR3 G>T	X	70836515	70836515	G	T	CXCR3	c.948C>A	NM_001142797.1	NP_001136269.1:p.(Thr316=)	NC_000023.10:g.70836515G>T	(Likely) benign	1 lab	87644e27cb
15:37385914 MEIS2 A>G	15	37385914	37385914	A	G	MEIS2	c.507T>C	NM_170675.5	NP_733775.1:p.(Asp169=)	NC_000015.9:g.37385914A>G	(Likely) benign	1 lab	8764b27e3e
3:9488760 SETD5 C>G	3	9488760	9488760	C	G	SETD5	c.1257C>G	NM_001292043.1	NP_001278972.1:p.(Ala419=)	NC_000003.11:g.9488760C>G	(Likely) benign	1 lab	876516a3ed
12:7045254 ATN1 C>T	12	7045254	7045254	C	T	ATN1	c.824C>T	NM_001940.4	NP_001931.2:p.(Pro275Leu)	NC_000012.11:g.7045254C>T	VUS	1 lab	b960bf13b6
2:191301769 MFSD6 G>A	2	191301769	191301769	G	A	MFSD6	c.1014G>A	NM_017694.4	NP_060164.3:p.(Ala338=)	NC_000002.11:g.191301769G>A	(Likely) benign	1 lab	87662608a7
9:94486502 ROR2 C>T	9	94486502	94486502	C	T	ROR2	c.2274G>A	NM_004560.3	NP_004551.2:p.(Ser758=)	NC_000009.11:g.94486502C>T	(Likely) benign	1 lab	87664d0d85
15:65273213 SPG21 G>A	15	65273213	65273213	G	A	SPG21	c.214C>T	NM_016630.6	NP_057714.1:p.(Arg72Trp)	NC_000015.9:g.65273213G>A	(Likely) pathogenic	1 lab	876808cb71
22:45938051 FBLN1 G>A	22	45938051	45938051	G	A	FBLN1	c.1083G>A	NM_006486.2	NP_006477.2:p.(Ala361=)	NC_000022.10:g.45938051G>A	(Likely) benign	1 lab	876884c6c0
6:33052981 HLA-DPB1 C>T	6	33052981	33052981	C	T	HLA-DPB1	c.619C>T	NM_002121.5	NP_002112.3:p.(Leu207=)	NC_000006.11:g.33052981C>T	(Likely) benign	1 lab	87688b4e0d
21:34925584 SON G>A	21	34925584	34925584	G	A	SON	c.4047G>A	NM_138927.2	NP_620305.2:p.(Met1349Ile)	NC_000021.8:g.34925584G>A	(Likely) benign	1 lab	87691597c8
18:57147453 CCBE1 C>T	18	57147453	57147453	C	T	CCBE1	c.230G>A	NM_133459.4	NP_597716.1:p.(Gly77Glu)	NC_000018.9:g.57147453C>T	VUS	1 lab	876971baf3
16:67685294 CARMIL2 T>C	16	67685294	67685294	T	C	CARMIL2	c.2314-10T>C	NM_001013838.2	NP_001013860.1:p.?	NC_000016.9:g.67685294T>C	(Likely) benign	1 lab	8769f244b8
13:23906805 SACS A>C	13	23906805	23906805	A	C	SACS	c.11210T>G	NM_014363.5	NP_055178.3:p.(Leu3737Arg)	NC_000013.10:g.23906805A>C	VUS	1 lab	876a0f7129
1:12025539 PLOD1 T>C	1	12025539	12025539	T	C	PLOD1	c.1614T>C	NM_001316320.1	NP_001303249.1:p.(Asp538=)	NC_000001.10:g.12025539T>C	(Likely) benign	1 lab	876a479c59
5:167937649 RARS1 A>T	5	167937649	167937649	A	T	RARS1	c.1410A>T	NM_002887.3	NP_002878.2:p.(Leu470=)	NC_000005.9:g.167937649A>T	(Likely) benign	1 lab	876a4c104a
12:124229333 ATP6V0A2 T>C	12	124229333	124229333	T	C	ATP6V0A2	c.1514+2T>C	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124229333T>C	(Likely) benign	1 lab	876a8808d9
12:125614009 AACS C>G	12	125614009	125614009	C	G	AACS	c.1549+3C>G	NM_023928.5	NP_076417.2:p.?	NC_000012.11:g.125614009C>G	VUS	1 lab	876c4479bc
17:7139132 PHF23 CAT>C	17	7139132	7139134	CAT	C	PHF23	c.1023_1024del	NM_024297.3	NP_077273.2:p.(Cys342LeufsTer13)	NC_000017.10:g.7139133_7139134del	VUS	1 lab	876d2ac5c7
13:25484017 CPAP G>A	13	25484017	25484017	G	A	CPAP	c.776C>T	NM_018451.4	NP_060921.3:p.(Ala259Val)	NC_000013.10:g.25484017G>A	(Likely) benign	1 lab	876d375cbf
1:232162292 DISC1 CTCAT>C	1	232162292	232162300	CTCAT	C	DISC1	c.2424_2425+2del	NM_018662.3	NP_061132.2:p.?	NC_000001.10:g.232162297_232162300del	VUS	1 lab	876df974c8
5:89854725 ADGRV1 C>T	5	89854725	89854725	C	T	ADGRV1	c.13C>T	NM_032119.4	NP_115495.3:p.(Leu5=)	NC_000005.9:g.89854725C>T	(Likely) benign	1 lab	877052ae4c
6:42937542 PEX6 G>A	6	42937542	42937542	G	A	PEX6	c.1234-3C>T	NM_000287.3	NP_000278.3:p.?	NC_000006.11:g.42937542G>A	(Likely) benign	1 lab	87715f3b59
7:21765497 DNAH11 G>A	7	21765497	21765497	G	A	DNAH11				NC_000007.13:g.21765497G>A	(Likely) benign	1 lab	8771dcf697
17:7606722 WRAP53 C>T	17	7606722	7606722	C	T	WRAP53	c.1565C>T	NM_018081.2	NP_060551.2:p.(Ala522Val)	NC_000017.10:g.7606722C>T	(Likely) benign	1 lab	877214cd10
7:21775289 DNAH11 G>A	7	21775289	21775289	G	A	DNAH11				NC_000007.13:g.21775289G>A	VUS	1 lab	87731c4c18
1:152287026 FLG A>G	1	152287026	152287026	A	G	FLG	c.336T>C	NM_002016.1	NP_002007.1:p.(Asp112=)	NC_000001.10:g.152287026A>G	(Likely) benign	1 lab	877492f6cc
9:135802668 TSC1 TG>T	9	135802668	135802669	TG	T	TSC1	c.129del	NM_000368.5	NP_000359.1:p.(Asn43LysfsTer19)	NC_000009.11:g.135802669del	(Likely) pathogenic	1 lab	87756a0b4e
1:215823961 USH2A G>A	1	215823961	215823961	G	A	USH2A	c.14316C>T	NM_206933.2	NP_996816.2:p.(Ser4772=)	NC_000001.10:g.215823961G>A	(Likely) benign	1 lab	8777dec094
4:15517628 CC2D2A G>A	4	15517628	15517628	G	A	CC2D2A	c.1017+1G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15517628G>A	(Likely) pathogenic	1 lab	877a24da04
6:42957392 PPP2R5D C>T	6	42957392	42957392	C	T	PPP2R5D	c.71C>T	NM_006245.4	NP_006236.1:p.(Ser24Leu)	NC_000006.11:g.42957392C>T	(Likely) benign	1 lab	fbadfec07a
22:37271983 NCF4 T>C	22	37271983	37271983	T	C	NCF4	c.916T>C	NM_013416.3	NP_038202.2:p.(Trp306Arg)	NC_000022.10:g.37271983T>C	(Likely) benign	1 lab	877bbe07aa
X:115585593 SLC6A14 C>T	X	115585593	115585593	C	T	SLC6A14	c.1389C>T	NM_007231.4	NP_009162.1:p.(Leu463=)	NC_000023.10:g.115585593C>T	(Likely) benign	1 lab	877cf77e4d
11:35965675 LDLRAD3 G>A	11	35965675	35965675	G	A	LDLRAD3	c.27G>A	NM_174902.4	NP_777562.1:p.(Leu9=)	NC_000011.9:g.35965675G>A	(Likely) benign	1 lab	877d0151bc
3:46902227 MYL3 C>T	3	46902227	46902227	C	T	MYL3	c.246G>A	NM_000258.3	NP_000249.1:p.(Ala82=)	NC_000003.11:g.46902227C>T	(Likely) benign	1 lab	fbae06118d
16:70884439 HYDIN G>A	16	70884439	70884439	G	A	HYDIN	c.12563C>T	NM_001270974.2	NP_001257903.1:p.(Thr4188Ile)	NC_000016.9:g.70884439G>A	VUS	1 lab	877e3eab89
6:162864412 PRKN T>C	6	162864412	162864412	T	C	PRKN	c.101A>G	NM_004562.2	NP_004553.2:p.(Gln34Arg)	NC_000006.11:g.162864412T>C	(Likely) benign	1 lab	877e530f62
2:26705440 OTOF C>T	2	26705440	26705440	C	T	OTOF	c.1413G>A	NM_194248.2	NP_919224.1:p.(Lys471=)	NC_000002.11:g.26705440C>T	(Likely) benign	1 lab	877e6c3708
2:179415942 TTN A>G	2	179415942	179415942	A	G	TTN	c.91316T>C	NM_001267550.1	NP_001254479.1:p.(Ile30439Thr)	NC_000002.11:g.179415942A>G	VUS	1 lab	877fec3d1f
19:47259931 FKRP C>T	19	47259931	47259931	C	T	FKRP	c.1224C>T	NM_001039885.2	NP_001034974.1:p.(Ser408=)	NC_000019.9:g.47259931C>T	(Likely) benign	1 lab	87810d42a2
2:176957822 HOXD13 G>GGCGGCAGCGGCGGCTGCGGCGGCGGCA	2	176957822	176957831	G	GGCGGCAGCGGCGGCTGCGGCGGCGGCA	HOXD13	c.212_213insGGCGGCTGCGGCGGCGGCAGCGGCAGC	NM_000523.3	NP_000514.2:p.(Ala63_Ala71dup)	NC_000002.11:g.176957830_176957831insGGCGGCTGCGGCGGCGGCAGCGGCAGC	(Likely) pathogenic	1 lab	878155f509
X:101911651 GPRASP1 T>C	X	101911651	101911651	T	C	GPRASP1	c.2810T>C	NM_001184727.1	NP_001171656.1:p.(Val937Ala)	NC_000023.10:g.101911651T>C	VUS	1 lab	8782edfc8d
X:47446077 TIMP1 C>T	X	47446077	47446077	C	T	TIMP1	c.611C>T	NM_003254.2	NP_003245.1:p.(Ser204Phe)	NC_000023.10:g.47446077C>T	(Likely) benign	1 lab	8784a45893
12:26277478 BHLHE41 T>G	12	26277478	26277478	T	G	BHLHE41	c.100A>C	NM_030762.2	NP_110389.1:p.(Arg34=)	NC_000012.11:g.26277478T>G	(Likely) benign	1 lab	8786d1dd35
13:111164241 COL4A2 CTG>C	13	111164241	111164245	CTG	C	COL4A2	c.4882-37_4882-36del	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111164244_111164245del	(Likely) benign	1 lab	8787406cfd
8:61778069 CHD7 T>C	8	61778069	61778069	T	C	CHD7				NC_000008.10:g.61778069T>C	(Likely) benign	1 lab	878be2e4dd
3:151163307 IGSF10 C>T	3	151163307	151163307	C	T	IGSF10	c.4462G>A	NM_178822.4	NP_849144.2:p.(Asp1488Asn)	NC_000003.11:g.151163307C>T	(Likely) benign	1 lab	878cc73127
21:30341905 LTN1 A>C	21	30341905	30341905	A	C	LTN1	c.1194T>G	NM_015565.3	NP_056380.3:p.(Thr398=)	NC_000021.8:g.30341905A>C	(Likely) benign	1 lab	878dfaa973
21:47572902 FTCD C>T	21	47572902	47572902	C	T	FTCD	c.286G>A	NM_001320412.1	NP_001307341.1:p.(Val96Met)	NC_000021.8:g.47572902C>T	VUS	1 lab	878e28bbb1
7:143013422 CLCN1 T>G	7	143013422	143013422	T	G	CLCN1	c.117T>G	NM_000083.2	NP_000074.2:p.(Asn39Lys)	NC_000007.13:g.143013422T>G	(Likely) benign	1 lab	879081b57a
X:153592918 FLNA C>T	X	153592918	153592918	C	T	FLNA	c.1998G>A	NM_001110556.2	NP_001104026.1:p.(Ala666=)	NC_000023.10:g.153592918C>T	(Likely) benign	1 lab	8790827734
X:135304562 MAP7D3 C>A	X	135304562	135304562	C	A	MAP7D3	c.2172G>T	NM_001173517.1	NP_001166988.1:p.(Met724Ile)	NC_000023.10:g.135304562C>A	(Likely) benign	1 lab	8790bb1ddd
5:172362258 ERGIC1 C>G	5	172362258	172362258	C	G	ERGIC1	c.710C>G	NM_001031711.3	NP_001026881.1:p.(Pro237Arg)	NC_000005.9:g.172362258C>G	VUS	1 lab	8791efed1c
X:152813387 ATP2B3 C>G	X	152813387	152813387	C	G	ATP2B3	c.1053C>G	NM_021949.3	NP_068768.2:p.(Asn351Lys)	NC_000023.10:g.152813387C>G	(Likely) benign	1 lab	8791f8147d
19:40317404 DYRK1B T>C	19	40317404	40317404	T	C	DYRK1B	c.1319A>G	NM_004714.2	NP_004705.1:p.(Asn440Ser)	NC_000019.9:g.40317404T>C	(Likely) benign	1 lab	87920b8b9d
2:1653005 PXDN G>A	2	1653005	1653005	G	A	PXDN	c.2547C>T	NM_012293.2	NP_036425.1:p.(Asn849=)	NC_000002.11:g.1653005G>A	(Likely) benign	1 lab	8792621f63
21:47571833 FTCD G>A	21	47571833	47571833	G	A	FTCD	c.429C>T	NM_001320412.1	NP_001307341.1:p.(Ala143=)	NC_000021.8:g.47571833G>A	(Likely) benign	1 lab	87940fdb0c
12:53701471 AAAS G>A	12	53701471	53701471	G	A	AAAS	c.1443C>T	NM_015665.5	NP_056480.1:p.(His481=)	NC_000012.11:g.53701471G>A	(Likely) benign	1 lab	8795305178
X:135754202 ARHGEF6 G>A	X	135754202	135754202	G	A	ARHGEF6	c.2112C>T	NM_004840.2	NP_004831.1:p.(Asn704=)	NC_000023.10:g.135754202G>A	(Likely) benign	1 lab	879897eaf2
4:89015762 ABCG2 T>C	4	89015762	89015762	T	C	ABCG2	c.1787A>G	NM_001348985.1	NP_001335914.1:p.(Asn596Ser)	NC_000004.11:g.89015762T>C	(Likely) benign	1 lab	8798da1b98
X:19425363 MAP3K15 A>G	X	19425363	19425363	A	G	MAP3K15	c.1787T>C	NM_001001671.3	NP_001001671.3:p.(Val596Ala)	NC_000023.10:g.19425363A>G	(Likely) benign	1 lab	8798dfb707
X:70837395 CXCR3 T>A	X	70837395	70837395	T	A	CXCR3	c.68A>T	NM_001142797.1	NP_001136269.1:p.(Lys23Ile)	NC_000023.10:g.70837395T>A	(Likely) benign	1 lab	8799c91c76
2:27680809 IFT172 T>C	2	27680809	27680809	T	C	IFT172	c.3010A>G	NM_015662.2	NP_056477.1:p.(Ile1004Val)	NC_000002.11:g.27680809T>C	VUS	1 lab	879a443bf9
3:30713800 TGFBR2 C>T	3	30713800	30713800	C	T	TGFBR2	c.1200C>T	NM_001024847.2	NP_001020018.1:p.(Ile400=)	NC_000003.11:g.30713800C>T	(Likely) benign	1 lab	879e00ff44
16:81249881 PKD1L2 G>A	16	81249881	81249881	G	A	PKD1L2	c.432C>T	NM_001076780.2	NP_001070248.1:p.(Cys144=)	NC_000016.9:g.81249881G>A	(Likely) benign	1 lab	879e9dec2f
1:3742399 CEP104 AT>A	1	3742399	3742401	AT	A	CEP104	c.2286del	NM_014704.4	NP_055519.1:p.(Glu762AspfsTer19)	NC_000001.10:g.3742401del	VUS	1 lab	879eac92c6
7:128486053 FLNC G>A	7	128486053	128486053	G	A	FLNC	c.3800G>A	NM_001458.4	NP_001449.3:p.(Arg1267Gln)	NC_000007.13:g.128486053G>A	VUS	1 lab	87a37c7e45
22:33778028 LARGE1 A>G	22	33778028	33778028	A	G	LARGE1	c.1008T>C	NM_004737.5	NP_004728.1:p.(Asp336=)	NC_000022.10:g.33778028A>G	(Likely) benign	1 lab	87a634e904
15:86273748 AKAP13 A>G	15	86273748	86273748	A	G	AKAP13	c.7104A>G	NM_006738.5	NP_006729.4:p.(Gln2368=)	NC_000015.9:g.86273748A>G	(Likely) benign	1 lab	87d870df17
13:103527718 ERCC5 G>A	13	103527718	103527718	G	A	ERCC5	c.3026G>A	NM_000123.3	NP_000114.2:p.(Arg1009His)	NC_000013.10:g.103527718G>A	(Likely) benign	1 lab	87a9d0d0df
2:46985679 SOCS5 G>T	2	46985679	46985679	G	T	SOCS5	c.10G>T	NM_144949.3	NP_659198.1:p.(Val4Leu)	NC_000002.11:g.46985679G>T	VUS	1 lab	87abce9b2e
X:69623753 KIF4A A>G	X	69623753	69623753	A	G	KIF4A	c.2659A>G	NM_012310.4	NP_036442.3:p.(Ser887Gly)	NC_000023.10:g.69623753A>G	(Likely) benign	1 lab	87ac3e35f3
1:242016745 EXO1 A>G	1	242016745	242016745	A	G	EXO1	c.367A>G	NM_130398.3	NP_569082.2:p.(Ile123Val)	NC_000001.10:g.242016745A>G	(Likely) benign	1 lab	87af75fcdf
2:170177303 LRP2 C>T	2	170177303	170177303	C	T	LRP2	c.171G>A	NM_004525.3	NP_004516.2:p.(Ala57=)	NC_000002.11:g.170177303C>T	(Likely) benign	1 lab	87b0cf088e
X:21508688 CNKSR2 G>A	X	21508688	21508688	G	A	CNKSR2	c.673G>A	NM_014927.4	NP_055742.2:p.(Glu225Lys)	NC_000023.10:g.21508688G>A	(Likely) benign	1 lab	87b0ec0b44
14:102461038 DYNC1H1 A>C	14	102461038	102461038	A	C	DYNC1H1	c.3185A>C	NM_001376.4	NP_001367.2:p.(Asp1062Ala)	NC_000014.8:g.102461038A>C	VUS	1 lab	87b1fe225d
19:59010545 SLC27A5 C>T	19	59010545	59010545	C	T	SLC27A5	c.1710G>A	NM_012254.2	NP_036386.1:p.(Val570=)	NC_000019.9:g.59010545C>T	(Likely) benign	1 lab	87b2fced95
3:9971801 IL17RC G>A	3	9971801	9971801	G	A	IL17RC	c.1459G>A	NM_153461.3	NP_703191.1:p.(Gly487Ser)	NC_000003.11:g.9971801G>A	VUS	1 lab	87baaf5e4f
15:48807620 FBN1 T>G	15	48807620	48807620	T	G	FBN1	c.1432A>C	NM_000138.4	NP_000129.3:p.(Lys478Gln)	NC_000015.9:g.48807620T>G	(Likely) benign	1 lab	87baf5cb03
19:45449284 APOC2 T>G	19	45449284	45449284	T	G	APOC2	c.-62T>G	NM_000483.4	NP_000474.2:p.?	NC_000019.9:g.45449284T>G	(Likely) benign	1 lab	ba1f7817bf
10:94393527 KIF11 G>T	10	94393527	94393527	G	T	KIF11	c.1850G>T	NM_004523.3	NP_004514.2:p.(Ser617Ile)	NC_000010.10:g.94393527G>T	VUS	1 lab	87bc38a241
18:72998530 TSHZ1 G>A	18	72998530	72998530	G	A	TSHZ1	c.1033G>A	NM_005786.5	NP_005777.3:p.(Val345Ile)	NC_000018.9:g.72998530G>A	VUS	1 lab	87bc676ff1
9:124086904 GSN G>A	9	124086904	124086904	G	A	GSN	c.1398G>A	NM_001353053.1	NP_001339982.1:p.(Leu466=)	NC_000009.11:g.124086904G>A	(Likely) benign	1 lab	87bc94578d
21:33044276 SCAF4 CTGT>C	21	33044276	33044279	CTGT	C	SCAF4	c.2877_2879del	NM_020706.2	NP_065757.1:p.(Gln966del)	NC_000021.8:g.33044277_33044279del	(Likely) benign	1 lab	fbb81260c6
1:183206573 LAMC2 G>A	1	183206573	183206573	G	A	LAMC2	c.2688G>A	NM_005562.3	NP_005553.2:p.(Gln896=)	NC_000001.10:g.183206573G>A	(Likely) benign	1 lab	fbbbb88d2b
11:47360208 MYBPC3 C>T	11	47360208	47360208	C	T	MYBPC3	c.2171G>A	NM_000256.3	NP_000247.2:p.(Arg724Gln)	NC_000011.9:g.47360208C>T	VUS	1 lab	fbbc2649b3
1:235973565 LYST G>A	1	235973565	235973565	G	A	LYST	c.553C>T	NM_001301365.1	NP_001288294.1:p.(Pro185Ser)	NC_000001.10:g.235973565G>A	(Likely) benign	1 lab	87c54c7be5
14:21555574 ARHGEF40 C>G	14	21555574	21555574	C	G	ARHGEF40	c.2197C>G	NM_001278529.1	NP_001265458.1:p.(Arg733Gly)	NC_000014.8:g.21555574C>G	(Likely) benign	1 lab	87c7dc1083
X:152967502 BCAP31 T>A	X	152967502	152967502	T	A	BCAP31	c.863A>T	NM_001139457.2	NP_001132929.1:p.(Lys288Met)	NC_000023.10:g.152967502T>A	VUS	1 lab	87c80a297c
13:39453073 FREM2 G>A	13	39453073	39453073	G	A	FREM2	c.8965G>A	NM_207361.5	NP_997244.4:p.(Gly2989Arg)	NC_000013.10:g.39453073G>A	VUS	1 lab	87c86633f1
2:27601088 ZNF513 C>T	2	27601088	27601088	C	T	ZNF513	c.950G>A	NM_144631.5	NP_653232.3:p.(Arg317Gln)	NC_000002.11:g.27601088C>T	VUS	1 lab	87ca261ffb
14:53518639 DDHD1 C>A	14	53518639	53518639	C	A	DDHD1	c.2444G>T	NM_001160148.1	NP_001153620.1:p.(Arg815Ile)	NC_000014.8:g.53518639C>A	VUS	1 lab	87cace1c88
1:152279561 FLG C>T	1	152279561	152279561	C	T	FLG	c.7801G>A	NM_002016.1	NP_002007.1:p.(Asp2601Asn)	NC_000001.10:g.152279561C>T	(Likely) benign	1 lab	87cd2173ae
11:5878250 OR52E8 T>C	11	5878250	5878250	T	C	OR52E8	c.683A>G	NM_001005168.1	NP_001005168.1:p.(Tyr228Cys)	NC_000011.9:g.5878250T>C	VUS	1 lab	87cea5dc97
2:240111777 HDAC4 T>C	2	240111777	240111777	T	C	HDAC4	c.95-4A>G	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240111777T>C	(Likely) benign	1 lab	87ceb429f5
2:175436835 WIPF1 C>A	2	175436835	175436835	C	A	WIPF1	c.698G>T	NM_001077269.1	NP_001070737.1:p.(Gly233Val)	NC_000002.11:g.175436835C>A	VUS	1 lab	87cff8a1b5
X:105277603 SERPINA7 G>C	X	105277603	105277603	G	C	SERPINA7	c.1136C>G	NM_000354.5	NP_000345.2:p.(Thr379Ser)	NC_000023.10:g.105277603G>C	(Likely) benign	1 lab	87d0e32198
8:108296969 ANGPT1 C>A	8	108296969	108296969	C	A	ANGPT1	c.1146G>T	NM_001146.4	NP_001137.2:p.(Gly382=)	NC_000008.10:g.108296969C>A	VUS	1 lab	87d112a559
1:13718562 PRAMEF17 C>T	1	13718562	13718562	C	T	PRAMEF17	c.1025C>T	NM_001099851.3	NP_001093321.1:p.(Ala342Val)	NC_000001.10:g.13718562C>T	(Likely) benign	1 lab	87d20af0d8
7:65440004 GUSB GGA>G	7	65440004	65440007	GGA	G	GUSB	c.965_966del	NM_000181.4	NP_000172.2:p.(Leu322ProfsTer30)	NC_000007.13:g.65440006_65440007del	(Likely) pathogenic	1 lab	87d4f4e529
17:78188963 SGSH G>A	17	78188963	78188963	G	A	SGSH	c.250-26C>T	NM_000199.4	NP_000190.1:p.?	NC_000017.10:g.78188963G>A	(Likely) benign	1 lab	87d50c6cc5
16:21011696 DNAH3 G>A	16	21011696	21011696	G	A	DNAH3	c.6133C>T	NM_001347886.1	NP_001334815.1:p.(Leu2045Phe)	NC_000016.9:g.21011696G>A	VUS	1 lab	87d616b0e3
X:148586561 IDS G>A	X	148586561	148586561	G	A	IDS	c.103+4C>T	NM_000202.8	NP_000193.1:p.?	NC_000023.10:g.148586561G>A	(Likely) benign	1 lab	fbc16051b1
2:113146674 RGPD8 C>T	2	113146674	113146674	C	T	RGPD8	c.3848G>A	NM_001164463.1	NP_001157935.1:p.(Arg1283His)	NC_000002.11:g.113146674C>T	VUS	1 lab	87db8cbec6
X:114541247 LUZP4 A>G	X	114541247	114541247	A	G	LUZP4	c.820A>G	NM_016383.4	NP_057467.1:p.(Ile274Val)	NC_000023.10:g.114541247A>G	(Likely) benign	1 lab	87dbfe0028
22:38130521 TRIOBP C>T	22	38130521	38130521	C	T	TRIOBP	c.4178C>T	NM_001039141.2	NP_001034230.1:p.(Pro1393Leu)	NC_000022.10:g.38130521C>T	(Likely) benign	1 lab	87dcbce787
6:105233109 HACE1 T>C	6	105233109	105233109	T	C	HACE1	c.1160A>G	NM_020771.4	NP_065822.2:p.(Glu387Gly)	NC_000006.11:g.105233109T>C	VUS	1 lab	fbc58b6b63
17:41063408 G6PC C>T	17	41063408	41063408	C	T	G6PC				NC_000017.10:g.41063408C>T	(Likely) pathogenic	1 lab	87de6a2a8e
17:7749946 KDM6B C>T	17	7749946	7749946	C	T	KDM6B	c.599C>T	NM_001080424.2	NP_001073893.1:p.(Ala200Val)	NC_000017.10:g.7749946C>T	(Likely) benign	1 lab	fbc61e76f6
2:170101321 LRP2 G>A	2	170101321	170101321	G	A	LRP2	c.3312C>T	NM_004525.3	NP_004516.2:p.(His1104=)	NC_000002.11:g.170101321G>A	(Likely) benign	1 lab	87e167331a
5:67576346 PIK3R1 A>T	5	67576346	67576346	A	T	PIK3R1	c.635-10A>T	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67576346A>T	(Likely) benign	1 lab	87e38d9987
10:134218668 PWWP2B G>A	10	134218668	134218668	G	A	PWWP2B	c.664G>A	NM_138499.4	NP_612508.3:p.(Glu222Lys)	NC_000010.10:g.134218668G>A	VUS	1 lab	87e41887e5
X:24024382 KLHL15 G>A	X	24024382	24024382	G	A	KLHL15	c.429C>T	NM_030624.2	NP_085127.2:p.(Phe143=)	NC_000023.10:g.24024382G>A	(Likely) benign	1 lab	87e4427304
19:11145790 SMARCA4 G>A	19	11145790	11145790	G	A	SMARCA4	c.4152G>A	NM_001128844.1	NP_001122316.1:p.(Thr1384=)	NC_000019.9:g.11145790G>A	(Likely) benign	1 lab	87e562aa63
10:5037539 AKR1C2 T>C	10	5037539	5037539	T	C	AKR1C2	c.818A>G	NM_001354.5	NP_001345.1:p.(Asn273Ser)	NC_000010.10:g.5037539T>C	VUS	1 lab	87e6613d65
16:70896015 HYDIN GA>G	16	70896015	70896017	GA	G	HYDIN	c.11712del	NM_001270974.2	NP_001257903.1:p.(Gln3905ArgfsTer5)	NC_000016.9:g.70896017del	(Likely) benign	1 lab	87e6c7e881
19:36595562 WDR62 C>T	19	36595562	36595562	C	T	WDR62	c.4296C>T	NM_001083961.1	NP_001077430.1:p.(Leu1432=)	NC_000019.9:g.36595562C>T	(Likely) benign	1 lab	87e74ccd3c
10:129904112 MKI67 G>A	10	129904112	129904112	G	A	MKI67	c.5992C>T	NM_002417.4	NP_002408.3:p.(Arg1998Ter)	NC_000010.10:g.129904112G>A	VUS	1 lab	87e79d0b57
22:45779460 SMC1B A>C	22	45779460	45779460	A	C	SMC1B	c.1945T>G	NM_148674.5	NP_683515.4:p.(Ser649Ala)	NC_000022.10:g.45779460A>C	(Likely) benign	1 lab	87eab71d19
15:90168534 TICRR G>T	15	90168534	90168534	G	T	TICRR	c.4993G>T	NM_152259.3	NP_689472.3:p.(Val1665Phe)	NC_000015.9:g.90168534G>T	VUS	1 lab	87eb8aa663
3:48508266 TREX1 T>C	3	48508266	48508266	T	C	TREX1	c.182T>C	NM_007248.4	NP_009179.2:p.(Val61Ala)	NC_000003.11:g.48508266T>C	VUS	1 lab	87eb9e827e
X:8502423 ANOS1 C>T	X	8502423	8502423	C	T	ANOS1	c.1921G>A	NM_000216.3	NP_000207.2:p.(Gly641Arg)	NC_000023.10:g.8502423C>T	VUS	1 lab	87efd82c7f
1:152276736 FLG G>A	1	152276736	152276736	G	A	FLG	c.10626C>T	NM_002016.1	NP_002007.1:p.(Asp3542=)	NC_000001.10:g.152276736G>A	(Likely) benign	1 lab	87f111d605
3:32188185 GPD1L G>A	3	32188185	32188185	G	A	GPD1L	c.577G>A	NM_015141.4	NP_055956.1:p.(Val193Ile)	NC_000003.11:g.32188185G>A	VUS	1 lab	fbc684493d
4:1801083 FGFR3 C>T	4	1801083	1801083	C	T	FGFR3	c.212C>T	NM_000142.4	NP_000133.1:p.(Pro71Leu)	NC_000004.11:g.1801083C>T	(Likely) benign	1 lab	87f208021a
8:11995788 USP17L2 G>T	8	11995788	11995788	G	T	USP17L2	c.482C>A	NM_201402.2	NP_958804.2:p.(Ala161Asp)	NC_000008.10:g.11995788G>T	(Likely) benign	1 lab	87f2245536
3:100962497 IMPG2 G>A	3	100962497	100962497	G	A	IMPG2	c.2678C>T	NM_016247.3	NP_057331.2:p.(Thr893Ile)	NC_000003.11:g.100962497G>A	VUS	1 lab	87f2e1d9c8
12:53552315 CSAD G>A	12	53552315	53552315	G	A	CSAD	c.1543C>T	NM_015989.4	NP_057073.4:p.(Arg515Trp)	NC_000012.11:g.53552315G>A	VUS	1 lab	87f2fadb6b
11:8115703 TUB G>A	11	8115703	8115703	G	A	TUB	c.529G>A	NM_003320.4	NP_003311.2:p.(Ala177Thr)	NC_000011.9:g.8115703G>A	VUS	1 lab	9194299deb
13:110861651 COL4A1 G>GAA	13	110861651	110861653	G	GAA	COL4A1	c.651+87_651+88insTT	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110861652_110861653insAA	(Likely) benign	1 lab	87f68bb4f4
7:128477693 FLNC A>G	7	128477693	128477693	A	G	FLNC	c.853A>G	NM_001458.4	NP_001449.3:p.(Ile285Val)	NC_000007.13:g.128477693A>G	(Likely) benign	1 lab	87f6df49fd
15:87097705 AGBL1 G>A	15	87097705	87097705	G	A	AGBL1	c.2931G>A	NM_152336.3	NP_689549.3:p.(Met977Ile)	NC_000015.9:g.87097705G>A	VUS	1 lab	87f7265744
17:41832984 SOST T>A	17	41832984	41832984	T	A	SOST	c.368A>T	NM_025237.3	NP_079513.1:p.(Lys123Met)	NC_000017.10:g.41832984T>A	VUS	1 lab	fbca2ba7aa
17:63533932 AXIN2 C>T	17	63533932	63533932	C	T	AXIN2	c.1222G>A	NM_004655.3	NP_004646.3:p.(Glu408Lys)	NC_000017.10:g.63533932C>T	(Likely) benign	1 lab	87f7d5ee6b
2:179650678 TTN T>C	2	179650678	179650678	T	C	TTN	c.2267A>G	NM_001267550.1	NP_001254479.1:p.(Glu756Gly)	NC_000002.11:g.179650678T>C	VUS	1 lab	87fcb6f379
21:47754514 PCNT G>A	21	47754514	47754514	G	A	PCNT	c.471G>A	NM_006031.5	NP_006022.3:p.(Gly157=)	NC_000021.8:g.47754514G>A	(Likely) benign	1 lab	87fdce8f24
X:75003947 MAGEE2 TATC>T	X	75003947	75003952	TATC	T	MAGEE2	c.937_939del	NM_138703.5	NP_619648.1:p.(Asp313del)	NC_000023.10:g.75003950_75003952del	VUS	1 lab	87fddd21c4
17:61791452 STRADA G>C	17	61791452	61791452	G	C	STRADA	c.29C>G	NM_153335.6	NP_699166.2:p.(Ser10Ter)	NC_000017.10:g.61791452G>C	(Likely) pathogenic	1 lab	880011192d
15:51289757 AP4E1 C>T	15	51289757	51289757	C	T	AP4E1	c.2356C>T	NM_001252127.1	NP_001239056.1:p.(Leu786=)	NC_000015.9:g.51289757C>T	(Likely) benign	1 lab	88003f11ef
2:152381715 NEB C>T	2	152381715	152381715	C	T	NEB	c.22339G>A	NM_001271208.1	NP_001258137.1:p.(Val7447Met)	NC_000002.11:g.152381715C>T	VUS	1 lab	8802a926de
14:70418858 SMOC1 C>G	14	70418858	70418858	C	G	SMOC1	c.103C>G	NM_001034852.2	NP_001030024.1:p.(Leu35Val)	NC_000014.8:g.70418858C>G	VUS	1 lab	88065f3fb4
12:122247738 SETD1B C>T	12	122247738	122247738	C	T	SETD1B	c.887C>T	NM_001353345.1	NP_001340274.1:p.(Pro296Leu)	NC_000012.11:g.122247738C>T	VUS	1 lab	8806d0b504
2:29462520 ALK G>A	2	29462520	29462520	G	A	ALK				NC_000002.11:g.29462520G>A	(Likely) benign	1 lab	8807755954
4:55131094 PDGFRA G>C	4	55131094	55131094	G	C	PDGFRA	c.637G>C	NM_006206.4	NP_006197.1:p.(Glu213Gln)	NC_000004.11:g.55131094G>C	(Likely) benign	1 lab	88081fa0cb
1:112524562 KCND3 C>T	1	112524562	112524562	C	T	KCND3	c.787G>A	NM_004980.5	NP_004971.2:p.(Asp263Asn)	NC_000001.10:g.112524562C>T	VUS	1 lab	fbcd67d3ad
18:47777331 CFAP53 G>T	18	47777331	47777331	G	T	CFAP53	c.793C>A	NM_145020.4	NP_659457.2:p.(Gln265Lys)	NC_000018.9:g.47777331G>T	VUS	1 lab	8809fe09af
14:91744435 CCDC88C C>T	14	91744435	91744435	C	T	CCDC88C	c.4889G>A	NM_001080414.3	NP_001073883.2:p.(Arg1630His)	NC_000014.8:g.91744435C>T	(Likely) benign	1 lab	880e11c345
5:149276339 PDE6A T>A	5	149276339	149276339	T	A	PDE6A	c.1408A>T	NM_000440.2	NP_000431.2:p.(Lys470Ter)	NC_000005.9:g.149276339T>A	(Likely) pathogenic	1 lab	880e1a9c7b
X:153133495 L1CAM C>T	X	153133495	153133495	C	T	L1CAM	c.1786G>A	NM_001278116.1	NP_001265045.1:p.(Glu596Lys)	NC_000023.10:g.153133495C>T	(Likely) benign	1 lab	880f74163f
7:148080805 CNTNAP2 C>T	7	148080805	148080805	C	T	CNTNAP2	c.3540C>T	NM_014141.5	NP_054860.1:p.(Ser1180=)	NC_000007.13:g.148080805C>T	(Likely) benign	1 lab	880fd9be11
X:48924777 CCDC120 C>T	X	48924777	48924777	C	T	CCDC120				NC_000023.10:g.48924777C>T	(Likely) benign	1 lab	8810644d08
2:26739290 OTOF G>A	2	26739290	26739290	G	A	OTOF	c.505C>T	NM_194248.2	NP_919224.1:p.(Arg169Trp)	NC_000002.11:g.26739290G>A	(Likely) benign	1 lab	8810740fd0
8:37555668 ZNF703 G>C	8	37555668	37555668	G	C	ZNF703	c.1249G>C	NM_025069.3	NP_079345.1:p.(Val417Leu)	NC_000008.10:g.37555668G>C	(Likely) benign	1 lab	8811c3c9cc
16:28498823 CLN3 G>A	16	28498823	28498823	G	A	CLN3	c.414C>T	NM_001042432.1	NP_001035897.1:p.(Ser138=)	NC_000016.9:g.28498823G>A	(Likely) benign	1 lab	8811d04908
14:105423951 AHNAK2 A>G	14	105423951	105423951	A	G	AHNAK2	c.114T>C	NM_138420.3	NP_612429.2:p.(Ser38=)	NC_000014.8:g.105423951A>G	(Likely) benign	1 lab	8814b73f22
1:185897782 HMCN1 C>T	1	185897782	185897782	C	T	HMCN1	c.1535C>T	NM_031935.2	NP_114141.2:p.(Thr512Ile)	NC_000001.10:g.185897782C>T	VUS	1 lab	8814d17672
22:42262929 SREBF2 TAGCAGCAGCGGCAGCAGTGGCAGC>T	22	42262929	42262962	TAGCAGCAGCGGCAGCAGTGGCAGC	T	SREBF2	c.193_216del	NM_004599.4	NP_004590.2:p.(Gly65_Ser72del)	NC_000022.10:g.42262939_42262962del	(Likely) benign	1 lab	88150574d2
19:36359644 APLP1 G>T	19	36359644	36359644	G	T	APLP1	c.106G>T	NM_001024807.2	NP_001019978.1:p.(Ala36Ser)	NC_000019.9:g.36359644G>T	VUS	1 lab	8815e2a91d
4:183603103 TENM3 G>A	4	183603103	183603103	G	A	TENM3	c.1971G>A	NM_001080477.3	NP_001073946.1:p.(Thr657=)	NC_000004.11:g.183603103G>A	(Likely) benign	1 lab	881622768f
12:80704484 OTOGL A>G	12	80704484	80704484	A	G	OTOGL	c.3400A>G	NM_173591.3	NP_775862.3:p.(Ile1134Val)	NC_000012.11:g.80704484A>G	(Likely) benign	1 lab	88169ece71
5:180651536 TRIM41 G>A	5	180651536	180651536	G	A	TRIM41	c.537G>A	NM_033549.4	NP_291027.3:p.(Arg179=)	NC_000005.9:g.180651536G>A	(Likely) benign	1 lab	881797f98c
11:119216275 MFRP G>C	11	119216275	119216275	G	C	MFRP	c.496C>G	NM_031433.3	NP_113621.1:p.(Pro166Ala)	NC_000011.9:g.119216275G>C	VUS	1 lab	8817a6d535
12:21689928 GYS2 G>A	12	21689928	21689928	G	A	GYS2	c.2072C>T	NM_021957.4	NP_068776.2:p.(Pro691Leu)	NC_000012.11:g.21689928G>A	VUS	1 lab	8818ae4d4e
Y:14968342 USP9Y A>G	Y	14968342	14968342	A	G	USP9Y	c.7142A>G	NM_004654.3	NP_004645.2:p.(Tyr2381Cys)	NC_000024.9:g.14968342A>G	VUS	1 lab	881aa5c8b2
3:124397060 KALRN T>C	3	124397060	124397060	T	C	KALRN	c.7217T>C	NM_001024660.4	NP_001019831.2:p.(Leu2406Pro)	NC_000003.11:g.124397060T>C	VUS	1 lab	881bf3b815
15:74659778 CYP11A1 T>C	15	74659778	74659778	T	C	CYP11A1	c.149A>G	NM_000781.2	NP_000772.2:p.(Glu50Gly)	NC_000015.9:g.74659778T>C	VUS	1 lab	881c096ff9
1:979280 AGRN C>G	1	979280	979280	C	G	AGRN	c.1876C>G	NM_001305275.2	NP_001292204.1:p.(Pro626Ala)	NC_000001.10:g.979280C>G	VUS	1 lab	881f06d59a
2:88885505 EIF2AK3 C>T	2	88885505	88885505	C	T	EIF2AK3	c.1504G>A	NM_004836.6	NP_004827.4:p.(Asp502Asn)	NC_000002.11:g.88885505C>T	(Likely) benign	1 lab	881f7d35ea
15:99459988 IGF1R A>T	15	99459988	99459988	A	T	IGF1R	c.2084A>T	NM_000875.4	NP_000866.1:p.(Glu695Val)	NC_000015.9:g.99459988A>T	VUS	1 lab	881f8b0897
X:106397455 NUP62CL C>G	X	106397455	106397455	C	G	NUP62CL	c.216G>C	NM_017681.2	NP_060151.2:p.(Met72Ile)	NC_000023.10:g.106397455C>G	VUS	1 lab	882069c866
2:167163030 SCN9A T>G	2	167163030	167163030	T	G	SCN9A	c.457A>C	NM_002977.3	NP_002968.1:p.(Lys153Gln)	NC_000002.11:g.167163030T>G	VUS	1 lab	88207649e2
2:179435667 TTN A>G	2	179435667	179435667	A	G	TTN	c.75192T>C	NM_001267550.1	NP_001254479.1:p.(Thr25064=)	NC_000002.11:g.179435667A>G	(Likely) benign	1 lab	882076d1ec
19:7600899 PNPLA6 A>G	19	7600899	7600899	A	G	PNPLA6	c.252A>G	NM_001166111.1	NP_001159583.1:p.(Arg84=)	NC_000019.9:g.7600899A>G	(Likely) benign	1 lab	88224fb789
1:247592878 NLRP3 A>C	1	247592878	247592878	A	C	NLRP3	c.2151-9A>C	NM_001243133.1	NP_001230062.1:p.?	NC_000001.10:g.247592878A>C	(Likely) benign	1 lab	8824caa647
17:29652901 NF1 AT>A	17	29652901	29652902	AT	A	NF1	c.4900del	NM_001042492.3	NP_001035957.1:p.(Tyr1634IlefsTer9)	NC_000017.10:g.29652902del	(Likely) pathogenic	1 lab	882540cfbe
1:3328990 PRDM16 A>G	1	3328990	3328990	A	G	PRDM16	c.2229A>G	NM_022114.3	NP_071397.3:p.(Arg743=)	NC_000001.10:g.3328990A>G	(Likely) benign	1 lab	8827577d9d
19:11098556 SMARCA4 G>GC	19	11098556	11098557	G	GC	SMARCA4	c.1075dup	NM_001128844.3	NP_001122316.1:p.(Arg359ProfsTer28)	NC_000019.9:g.11098557dup	(Likely) pathogenic	1 lab	fbd02dea49
18:28651707 DSC2 T>G	18	28651707	28651707	T	G	DSC2	c.1989A>C	NM_024422.4	NP_077740.1:p.(Ser663=)	NC_000018.9:g.28651707T>G	(Likely) benign	1 lab	882916215b
X:153069023 PDZD4 T>C	X	153069023	153069023	T	C	PDZD4	c.1807A>G	NM_001303513.1	NP_001290442.1:p.(Met603Val)	NC_000023.10:g.153069023T>C	(Likely) benign	1 lab	882949745b
12:7045971 ATN1 C>T	12	7045971	7045971	C	T	ATN1	c.1541C>T	NM_001940.4	NP_001931.2:p.(Ala514Val)	NC_000012.11:g.7045971C>T	(Likely) benign	1 lab	882b5a73cb
1:181702831 MISSING C>T	1	181702831	181702831	C	T	MISSING				NC_000001.10:g.181702831C>T	(Likely) benign	1 lab	882cd7186b
4:126239627 FAT4 T>C	4	126239627	126239627	T	C	FAT4	c.2061T>C	NM_024582.4	NP_078858.4:p.(Pro687=)	NC_000004.11:g.126239627T>C	(Likely) benign	1 lab	88302b1ed1
2:170042516 LRP2 G>A	2	170042516	170042516	G	A	LRP2	c.9342C>T	NM_004525.3	NP_004516.2:p.(Cys3114=)	NC_000002.11:g.170042516G>A	(Likely) benign	1 lab	883062df85
18:67806943 RTTN A>G	18	67806943	67806943	A	G	RTTN	c.2680T>C	NM_173630.3	NP_775901.3:p.(Cys894Arg)	NC_000018.9:g.67806943A>G	(Likely) benign	1 lab	88308368da
20:57429868 GNAS A>T	20	57429868	57429868	A	T	GNAS	c.1361A>T	NM_001077490.2	NP_001070958.1:p.(Gln454Leu)	NC_000020.10:g.57429868A>T	VUS	1 lab	8830fe23f5
1:225611661 LBR C>T	1	225611661	225611661	C	T	LBR	c.117G>A	NM_002296.4	NP_002287.2:p.(Val39=)	NC_000001.10:g.225611661C>T	(Likely) benign	1 lab	fbd0d30ede
18:7034502 LAMA1 T>C	18	7034502	7034502	T	C	LAMA1	c.2027A>G	NM_005559.3	NP_005550.2:p.(Asn676Ser)	NC_000018.9:g.7034502T>C	VUS	1 lab	88391c0509
16:70852465 HYDIN C>T	16	70852465	70852465	C	T	HYDIN	c.14438G>A	NM_001270974.2	NP_001257903.1:p.(Arg4813Gln)	NC_000016.9:g.70852465C>T	VUS	1 lab	883985325b
20:3214276 SLC4A11 T>C	20	3214276	3214276	T	C	SLC4A11	c.742A>G	NM_001174090.1	NP_001167561.1:p.(Met248Val)	NC_000020.10:g.3214276T>C	(Likely) benign	1 lab	8841417fc9
4:126239092 FAT4 A>G	4	126239092	126239092	A	G	FAT4	c.1526A>G	NM_001291303.1	NP_001278232.1:p.(Asn509Ser)	NC_000004.11:g.126239092A>G	VUS	1 lab	8841baf6f1
17:29562986 NF1 TG>T	17	29562986	29562987	TG	T	NF1	c.3922del	NM_001042492.3	NP_001035957.1:p.(Val1308Ter)	NC_000017.10:g.29562987del	(Likely) pathogenic	1 lab	8841d9451f
10:23481720 PTF1A G>A	10	23481720	23481720	G	A	PTF1A	c.261G>A	NM_178161.2	NP_835455.1:p.(Gly87=)	NC_000010.10:g.23481720G>A	(Likely) benign	1 lab	88437c740f
2:84668557 SUCLG1 A>G	2	84668557	84668557	A	G	SUCLG1	c.345T>C	NM_003849.3	NP_003840.2:p.(Ala115=)	NC_000002.11:g.84668557A>G	(Likely) benign	1 lab	8846da2fed
2:109388191 RANBP2 AGAT>A	2	109388191	109388201	AGAT	A	RANBP2	c.7892_7894del	NM_006267.5	NP_006258.3:p.(Asp2631del)	NC_000002.11:g.109388199_109388201del	VUS	1 lab	88473af9eb
16:88498733 ZNF469 G>A	16	88498733	88498733	G	A	ZNF469				NC_000016.9:g.88498733G>A	(Likely) benign	1 lab	884806b76e
16:2112619 TSC2 G>C	16	2112619	2112619	G	C	TSC2	c.1361+18G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112619G>C	(Likely) benign	1 lab	8848927612
13:110865119 COL4A1 G>GCA	13	110865119	110865123	G	GCA	COL4A1	c.280-156_280-155dup	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110865122_110865123dup	(Likely) benign	1 lab	8849a0abbb
14:91804493 CCDC88C C>T	14	91804493	91804493	C	T	CCDC88C	c.906G>A	NM_001080414.3	NP_001073883.2:p.(Ala302=)	NC_000014.8:g.91804493C>T	(Likely) benign	1 lab	884a2faa36
1:150531772 ADAMTSL4 G>A	1	150531772	150531772	G	A	ADAMTSL4	c.2842G>A	NM_001288608.1	NP_001275537.1:p.(Glu948Lys)	NC_000001.10:g.150531772G>A	VUS	1 lab	884a6d1fa6
9:15466799 PSIP1 G>A	9	15466799	15466799	G	A	PSIP1	c.1479C>T	NM_001128217.2	NP_001121689.1:p.(Asn493=)	NC_000009.11:g.15466799G>A	(Likely) benign	1 lab	884ab7b23e
12:111078910 TCTN1 G>A	12	111078910	111078910	G	A	TCTN1	c.526G>A	NM_001319681.1	NP_001306610.1:p.(Val176Ile)	NC_000012.11:g.111078910G>A	(Likely) benign	1 lab	884d2dfd25
2:170163883 LRP2 T>C	2	170163883	170163883	T	C	LRP2	c.335A>G	NM_004525.3	NP_004516.2:p.(Gln112Arg)	NC_000002.11:g.170163883T>C	VUS	1 lab	884d32aed6
5:178413123 GRM6 G>A	5	178413123	178413123	G	A	GRM6	c.2124+8C>T	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178413123G>A	(Likely) benign	1 lab	884e2bd7be
7:107342361 SLC26A4 C>A	7	107342361	107342361	C	A	SLC26A4	c.1893C>A	NM_000441.1	NP_000432.1:p.(Thr631=)	NC_000007.13:g.107342361C>A	(Likely) benign	1 lab	884fedff7a
11:20070670 NAV2 C>T	11	20070670	20070670	C	T	NAV2	c.4368C>T	NM_001244963.1	NP_001231892.1:p.(Ile1456=)	NC_000011.9:g.20070670C>T	(Likely) benign	1 lab	885073e91d
17:29556917 NF1 T>C	17	29556917	29556917	T	C	NF1	c.2915T>C	NM_000267.3	NP_000258.1:p.(Leu972Pro)	NC_000017.10:g.29556917T>C	VUS	1 lab	88513b727a
X:53585653 HUWE1 C>T	X	53585653	53585653	C	T	HUWE1	c.8123G>A	NM_031407.7	NP_113584.3:p.(Gly2708Asp)	NC_000023.10:g.53585653C>T	VUS	1 lab	fbd6c6ac2f
X:153689713 PLXNA3 G>A	X	153689713	153689713	G	A	PLXNA3	c.869G>A	NM_017514.4	NP_059984.3:p.(Arg290His)	NC_000023.10:g.153689713G>A	VUS	1 lab	885379a94b
X:63444724 ASB12 CA>C	X	63444724	63444726	CA	C	ASB12	c.806del	NM_130388.4	NP_569059.3:p.(Leu269CysfsTer18)	NC_000023.10:g.63444726del	VUS	1 lab	885632e773
10:73544177 CDH23 A>G	10	73544177	73544177	A	G	CDH23	c.5502A>G	NM_022124.5	NP_071407.4:p.(Thr1834=)	NC_000010.10:g.73544177A>G	VUS	1 lab	88567e1cf4
X:12735131 FRMPD4 C>T	X	12735131	12735131	C	T	FRMPD4	c.2553C>T	NM_014728.3	NP_055543.2:p.(Asp851=)	NC_000023.10:g.12735131C>T	(Likely) benign	1 lab	88577530bc
1:38330035 INPP5B G>A	1	38330035	38330035	G	A	INPP5B	c.2575C>T	NM_005540.3	NP_005531.2:p.(Arg859Ter)	NC_000001.10:g.38330035G>A	VUS	1 lab	88598cbf5d
1:46658989 POMGNT1 G>T	1	46658989	46658989	G	T	POMGNT1	c.1098C>A	NM_001243766.1	NP_001230695.1:p.(Ala366=)	NC_000001.10:g.46658989G>T	(Likely) benign	1 lab	885c1fd1ab
11:17635245 OTOG A>T	11	17635245	17635245	A	T	OTOG	c.6561A>T	NM_001277269.1	NP_001264198.1:p.(Arg2187=)	NC_000011.9:g.17635245A>T	VUS	1 lab	885cbe5b2b
2:135893206 RAB3GAP1 A>G	2	135893206	135893206	A	G	RAB3GAP1	c.1627A>G	NM_001172435.1	NP_001165906.1:p.(Asn543Asp)	NC_000002.11:g.135893206A>G	(Likely) benign	1 lab	885d3def29
1:152282827 FLG G>C	1	152282827	152282827	G	C	FLG	c.4535C>G	NM_002016.1	NP_002007.1:p.(Ser1512Cys)	NC_000001.10:g.152282827G>C	VUS	1 lab	8860516e66
19:11332854 DOCK6 C>T	19	11332854	11332854	C	T	DOCK6	c.3311G>A	NM_020812.3	NP_065863.2:p.(Arg1104Gln)	NC_000019.9:g.11332854C>T	VUS	1 lab	88607cd71c
11:64953383 CAPN1 C>A	11	64953383	64953383	C	A	CAPN1	c.457-5C>A	NM_001198868.1	NP_001185797.1:p.?	NC_000011.9:g.64953383C>A	(Likely) benign	1 lab	88641f2b2b
1:1471078 TMEM240 G>A	1	1471078	1471078	G	A	TMEM240	c.264C>T	NM_001114748.1	NP_001108220.1:p.(Ile88=)	NC_000001.10:g.1471078G>A	(Likely) benign	1 lab	88661ac34d
5:5463449 ICE1 C>T	5	5463449	5463449	C	T	ICE1	c.4002C>T	NM_015325.3	NP_056140.1:p.(Ser1334=)	NC_000005.9:g.5463449C>T	(Likely) benign	1 lab	88665a1a20
9:140056474 GRIN1 G>C	9	140056474	140056474	G	C	GRIN1	c.1566G>C	NM_007327.3	NP_015566.1:p.(Glu522Asp)	NC_000009.11:g.140056474G>C	VUS	1 lab	8867de679d
X:153185020 ARHGAP4 C>A	X	153185020	153185020	C	A	ARHGAP4	c.801+1G>T	NM_001164741.1	NP_001158213.1:p.?	NC_000023.10:g.153185020C>A	(Likely) benign	1 lab	886810b465
2:29296591 PCARE A>G	2	29296591	29296591	A	G	PCARE	c.537T>C	NM_001029883.2	NP_001025054.1:p.(Pro179=)	NC_000002.11:g.29296591A>G	(Likely) benign	1 lab	8868694237
5:112439993 MCC C>T	5	112439993	112439993	C	T	MCC	c.1087G>A	NM_001085377.1	NP_001078846.1:p.(Val363Ile)	NC_000005.9:g.112439993C>T	(Likely) benign	1 lab	88687cbd54
15:52664554 MYO5A G>A	15	52664554	52664554	G	A	MYO5A	c.2584C>T	NM_000259.3	NP_000250.3:p.(Arg862Cys)	NC_000015.9:g.52664554G>A	VUS	1 lab	8869a08db8
3:52426639 DNAH1 C>A	3	52426639	52426639	C	A	DNAH1	c.10212C>A	NM_015512.4	NP_056327.4:p.(Asn3404Lys)	NC_000003.11:g.52426639C>A	VUS	1 lab	886acdba88
20:50049010 NFATC2 G>A	20	50049010	50049010	G	A	NFATC2	c.2316C>T	NM_012340.5	NP_036472.2:p.(Ala772=)	NC_000020.10:g.50049010G>A	(Likely) benign	1 lab	886d9ffc43
11:117265864 CEP164 A>T	11	117265864	117265864	A	T	CEP164	c.2870A>T	NM_014956.4	NP_055771.4:p.(Gln957Leu)	NC_000011.9:g.117265864A>T	VUS	1 lab	886f7ca390
9:139407512 NOTCH1 C>T	9	139407512	139407512	C	T	NOTCH1	c.2428G>A	NM_017617.5	NP_060087.3:p.(Val810Ile)	NC_000009.11:g.139407512C>T	VUS	1 lab	8872089213
X:20156740 EIF1AX C>T	X	20156740	20156740	C	T	EIF1AX	c.17G>A	NM_001412.4	NP_001403.1:p.(Gly6Asp)	NC_000023.10:g.20156740C>T	(Likely) pathogenic	1 lab	fbdc8e677c
17:56294088 MKS1 C>T	17	56294088	56294088	C	T	MKS1	c.200G>A	NM_017777.3	NP_060247.2:p.(Arg67His)	NC_000017.10:g.56294088C>T	VUS	1 lab	887480d17a
17:78163589 CARD14 C>T	17	78163589	78163589	C	T	CARD14	c.881C>T	NM_024110.4	NP_077015.2:p.(Ala294Val)	NC_000017.10:g.78163589C>T	VUS	1 lab	fbdd0f8d9b
20:34054790 CEP250 G>A	20	34054790	34054790	G	A	CEP250	c.493-1G>A	NM_007186.5	NP_009117.2:p.?	NC_000020.10:g.34054790G>A	(Likely) pathogenic	1 lab	8875b141f8
3:184035611 EIF4G1 A>G	3	184035611	184035611	A	G	EIF4G1	c.424+7A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184035611A>G	(Likely) benign	1 lab	8877874449
7:101844680 CUX1 C>G	7	101844680	101844680	C	G	CUX1	c.2136C>G	NM_001202543.1	NP_001189472.1:p.(Asn712Lys)	NC_000007.13:g.101844680C>G	(Likely) benign	1 lab	887801e193
12:9016584 A2ML1 G>A	12	9016584	9016584	G	A	A2ML1	c.3697G>A	NM_144670.6	NP_653271.3:p.(Gly1233Arg)	NC_000012.11:g.9016584G>A	(Likely) benign	1 lab	fbdf2182e5
3:164709153 SI T>G	3	164709153	164709153	T	G	SI	c.5096A>C	NM_001041.3	NP_001032.2:p.(Asn1699Thr)	NC_000003.11:g.164709153T>G	(Likely) benign	1 lab	88784a8caf
16:53639451 RPGRIP1L G>A	16	53639451	53639451	G	A	RPGRIP1L	c.3777C>T	NM_015272.4	NP_056087.2:p.(His1259=)	NC_000016.9:g.53639451G>A	(Likely) benign	1 lab	88794cab29
12:111078304 TCTN1 C>T	12	111078304	111078304	C	T	TCTN1	c.426C>T	NM_001319681.1	NP_001306610.1:p.(Cys142=)	NC_000012.11:g.111078304C>T	(Likely) benign	1 lab	8879a5f8ef
X:149013642 MAGEA8 C>T	X	149013642	149013642	C	T	MAGEA8	c.596C>T	NM_001166400.1	NP_001159872.1:p.(Thr199Met)	NC_000023.10:g.149013642C>T	(Likely) benign	1 lab	887ca13919
X:128701328 OCRL G>A	X	128701328	128701328	G	A	OCRL	c.1457G>A	NM_001318784.1	NP_001305713.1:p.(Arg486Gln)	NC_000023.10:g.128701328G>A	VUS	1 lab	887d35e116
17:29585522 NF1 T>G	17	29585522	29585522	T	G	NF1	c.4269+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29585522T>G	(Likely) pathogenic	1 lab	8880fce927
19:11327673 DOCK6 G>A	19	11327673	11327673	G	A	DOCK6	c.3916C>T	NM_001367830.1	NP_001354759.1:p.(Arg1306Cys)	NC_000019.9:g.11327673G>A	VUS	1 lab	88825f8bf4
4:1389137 CRIPAK G>A	4	1389137	1389137	G	A	CRIPAK	c.838G>A	NM_175918.3	NP_787114.2:p.(Ala280Thr)	NC_000004.11:g.1389137G>A	(Likely) benign	1 lab	88826c0d61
1:19202866 ALDH4A1 G>A	1	19202866	19202866	G	A	ALDH4A1	c.1281C>T	NM_003748.4	NP_003739.2:p.(Tyr427=)	NC_000001.10:g.19202866G>A	(Likely) benign	1 lab	8884ea3a0b
X:153689578 PLXNA3 C>T	X	153689578	153689578	C	T	PLXNA3	c.734C>T	NM_017514.4	NP_059984.3:p.(Thr245Ile)	NC_000023.10:g.153689578C>T	VUS	1 lab	88854f847b
4:39229902 WDR19 A>G	4	39229902	39229902	A	G	WDR19	c.1702A>G	NM_025132.3	NP_079408.3:p.(Met568Val)	NC_000004.11:g.39229902A>G	(Likely) benign	1 lab	88858796f3
17:29592330 NF1 A>G	17	29592330	29592330	A	G	NF1	c.4745A>G	NM_000267.3	NP_000258.1:p.(Asn1582Ser)	NC_000017.10:g.29592330A>G	VUS	1 lab	8886298199
16:75589845 TMEM231 C>G	16	75589845	75589845	C	G	TMEM231	c.166G>C	NM_001077418.3	NP_001070886.1:p.(Glu56Gln)	NC_000016.9:g.75589845C>G	VUS	1 lab	888ce7d5cd
5:110710591 CAMK4 G>A	5	110710591	110710591	G	A	CAMK4	c.284G>A	NM_001744.6	NP_001735.1:p.(Arg95His)	NC_000005.9:g.110710591G>A	VUS	1 lab	fbe1286ee5
4:2831346 SH3BP2 C>T	4	2831346	2831346	C	T	SH3BP2	c.797C>T	NM_001145855.2	NP_001139327.1:p.(Pro266Leu)	NC_000004.11:g.2831346C>T	VUS	1 lab	fbe236a11a
X:107909738 COL4A5 A>T	X	107909738	107909738	A	T	COL4A5	c.3467A>T	NM_033380.2	NP_203699.1:p.(His1156Leu)	NC_000023.10:g.107909738A>T	(Likely) benign	1 lab	888ed21c1f
X:153577218 FLNA CAG>C	X	153577218	153577220	CAG	C	FLNA	c.7941_7942del	NM_001110556.2	NP_001104026.1:p.(Ter2648SerextTer100)	NC_000023.10:g.153577219_153577220del	(Likely) pathogenic	1 lab	8892522a53
20:33587185 MYH7B A>C	20	33587185	33587185	A	C	MYH7B	c.4643A>C	NM_020884.4	NP_065935.3:p.(Lys1548Thr)	NC_000020.10:g.33587185A>C	VUS	1 lab	8893d86d14
5:118865632 HSD17B4 A>C	5	118865632	118865632	A	C	HSD17B4	c.1886A>C	NM_001199291.2	NP_001186220.1:p.(Asp629Ala)	NC_000005.9:g.118865632A>C	VUS	1 lab	8893ede093
10:71142369 HK1 C>G	10	71142369	71142369	C	G	HK1	c.1497C>G	NM_001322365.1	NP_001309294.1:p.(Ala499=)	NC_000010.10:g.71142369C>G	(Likely) benign	1 lab	889455b43d
4:38774805 TLR10 T>C	4	38774805	38774805	T	C	TLR10	c.2407A>G	NM_030956.4	NP_112218.2:p.(Ile803Val)	NC_000004.11:g.38774805T>C	(Likely) benign	1 lab	88963cf25d
17:4925857 KIF1C G>A	17	4925857	4925857	G	A	KIF1C	c.2481G>A	NM_006612.5	NP_006603.2:p.(Gly827=)	NC_000017.10:g.4925857G>A	(Likely) benign	1 lab	88a33c7ca5
15:89848401 FANCI G>A	15	89848401	89848401	G	A	FANCI	c.3114G>A	NM_001113378.1	NP_001106849.1:p.(Ser1038=)	NC_000015.9:g.89848401G>A	(Likely) benign	1 lab	889919959b
5:180045782 FLT4 G>C	5	180045782	180045782	G	C	FLT4	c.2989C>G	NM_182925.4	NP_891555.2:p.(Pro997Ala)	NC_000005.9:g.180045782G>C	(Likely) benign	1 lab	889b733d85
3:158367830 GFM1 T>C	3	158367830	158367830	T	C	GFM1	c.726T>C	NM_001308164.1	NP_001295093.1:p.(Asn242=)	NC_000003.11:g.158367830T>C	(Likely) benign	1 lab	889bfb41d6
18:55222136 FECH G>A	18	55222136	55222136	G	A	FECH				NC_000018.9:g.55222136G>A	(Likely) pathogenic	1 lab	889c1d6ab0
9:2643175 VLDLR G>C	9	2643175	2643175	G	C	VLDLR	c.464G>C	NM_003383.4	NP_003374.3:p.(Ser155Thr)	NC_000009.11:g.2643175G>C	VUS	1 lab	889d89c366
1:17567253 PADI1 A>G	1	17567253	17567253	A	G	PADI1	c.1756A>G	NM_013358.3	NP_037490.2:p.(Met586Val)	NC_000001.10:g.17567253A>G	VUS	1 lab	889df70e81
1:87043728 CLCA4 G>A	1	87043728	87043728	G	A	CLCA4	c.2095G>A	NM_012128.4	NP_036260.2:p.(Ala699Thr)	NC_000001.10:g.87043728G>A	(Likely) benign	1 lab	889e2fa1b2
7:47933472 PKD1L1 C>T	7	47933472	47933472	C	T	PKD1L1	c.2453+3G>A	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47933472C>T	(Likely) benign	1 lab	fbe2ada7bf
10:50690806 ERCC6 G>A	10	50690806	50690806	G	A	ERCC6	c.2096C>T	NM_000124.2	NP_000115.1:p.(Thr699Met)	NC_000010.10:g.50690806G>A	VUS	1 lab	88a0d8cae2
1:197071358 ASPM G>A	1	197071358	197071358	G	A	ASPM	c.7023C>T	NM_018136.4	NP_060606.3:p.(Ile2341=)	NC_000001.10:g.197071358G>A	(Likely) benign	1 lab	88a1a41ba8
16:731848 STUB1 C>T	16	731848	731848	C	T	STUB1	c.364C>T	NM_001293197.1	NP_001280126.1:p.(Arg122Trp)	NC_000016.9:g.731848C>T	VUS	1 lab	88a24c0b0b
5:33947368 SLC45A2 G>A	5	33947368	33947368	G	A	SLC45A2	c.1268C>T	NM_001012509.3	NP_001012527.1:p.(Ser423Phe)	NC_000005.9:g.33947368G>A	VUS	1 lab	88a2a7f797
10:73574898 CDH23 C>T	10	73574898	73574898	C	T	CDH23	c.9928C>T	NM_022124.5	NP_071407.4:p.(Arg3310Cys)	NC_000010.10:g.73574898C>T	VUS	1 lab	88a2e81408
19:16593415 CALR3 G>A	19	16593415	16593415	G	A	CALR3	c.787-23C>T	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16593415G>A	(Likely) benign	1 lab	88a4c6728a
11:95718719 MAML2 T>C	11	95718719	95718719	T	C	MAML2	c.2431A>G	NM_032427.4	NP_115803.1:p.(Met811Val)	NC_000011.9:g.95718719T>C	(Likely) benign	1 lab	88a4f04330
1:152279584 FLG C>G	1	152279584	152279584	C	G	FLG	c.7778G>C	NM_002016.1	NP_002007.1:p.(Gly2593Ala)	NC_000001.10:g.152279584C>G	VUS	1 lab	88a7065afa
17:58132877 HEATR6 A>C	17	58132877	58132877	A	C	HEATR6	c.2288T>G	NM_022070.4	NP_071353.4:p.(Leu763Trp)	NC_000017.10:g.58132877A>C	VUS	1 lab	88a757dd00
17:18023748 MYO15A C>T	17	18023748	18023748	C	T	MYO15A	c.1634C>T	NM_016239.3	NP_057323.3:p.(Ala545Val)	NC_000017.10:g.18023748C>T	VUS	1 lab	88ac2f42ee
X:37312571 PRRG1 C>T	X	37312571	37312571	C	T	PRRG1	c.354C>T	NM_001173489.1	NP_001166960.1:p.(Gly118=)	NC_000023.10:g.37312571C>T	(Likely) benign	1 lab	88ad0f4942
16:2135071 TSC2 C>T	16	2135071	2135071	C	T	TSC2	c.4569+44C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135071C>T	(Likely) benign	1 lab	88ae2d0658
10:26462906 MYO3A A>G	10	26462906	26462906	A	G	MYO3A	c.3713A>G	NM_017433.5	NP_059129.3:p.(Gln1238Arg)	NC_000010.10:g.26462906A>G	VUS	1 lab	88b3f94514
10:88441306 LDB3 C>T	10	88441306	88441306	C	T	LDB3	c.435C>T	NM_001171610.1	NP_001165081.1:p.(Ala145=)	NC_000010.10:g.88441306C>T	(Likely) benign	1 lab	88b450efac
11:6661388 DCHS1 G>A	11	6661388	6661388	G	A	DCHS1				NC_000011.9:g.6661388G>A	VUS	1 lab	88e5a0138f
6:73879580 KCNQ5 T>C	6	73879580	73879580	T	C	KCNQ5	c.1634+3T>C	NM_001160133.1	NP_001153605.1:p.?	NC_000006.11:g.73879580T>C	(Likely) benign	1 lab	88b4ef3c76
1:160280016 COPA T>C	1	160280016	160280016	T	C	COPA	c.1109A>G	NM_001098398.2	NP_001091868.1:p.(Tyr370Cys)	NC_000001.10:g.160280016T>C	VUS	1 lab	88b5f793fe
19:50098829 PRR12 G>A	19	50098829	50098829	G	A	PRR12	c.1237G>A	NM_020719.2	NP_065770.1:p.(Ala413Thr)	NC_000019.9:g.50098829G>A	(Likely) benign	1 lab	88b66081c9
17:48267264 COL1A1 C>A	17	48267264	48267264	C	A	COL1A1	c.2569G>T	NM_000088.4	NP_000079.2:p.(Gly857Cys)	NC_000017.10:g.48267264C>A	(Likely) pathogenic	1 lab	fbe7097fc9
6:32551868 HLA-DRB1 G>GC	6	32551868	32551871	G	GC	HLA-DRB1	c.370+17dup	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32551871dup	(Likely) benign	1 lab	fbe796804e
18:55221547 FECH T>C	18	55221547	55221547	T	C	FECH				NC_000018.9:g.55221547T>C	(Likely) pathogenic	1 lab	88b9c33d3d
X:13771542 OFD1 G>A	X	13771542	13771542	G	A	OFD1	c.691G>A	NM_001330210.1	NP_001317139.1:p.(Asp231Asn)	NC_000023.10:g.13771542G>A	(Likely) benign	1 lab	88b9d35089
1:213186613 ANGEL2 GAAGTATGGGT>G	1	213186613	213186626	GAAGTATGGGT	G	ANGEL2	c.197_206del	NM_144567.5	NP_653168.2:p.(Tyr66SerfsTer8)	NC_000001.10:g.213186617_213186626del	VUS	1 lab	88b9ee0e27
19:48619232 LIG1 C>T	19	48619232	48619232	C	T	LIG1	c.2581-10G>A	NM_001320970.1	NP_001307899.1:p.?	NC_000019.9:g.48619232C>T	(Likely) benign	1 lab	88ba71ea48
19:9061098 MUC16 G>C	19	9061098	9061098	G	C	MUC16	c.26348C>G	NM_024690.2	NP_078966.2:p.(Ala8783Gly)	NC_000019.9:g.9061098G>C	VUS	1 lab	88bb0a1a00
12:39763663 KIF21A A>C	12	39763663	39763663	A	C	KIF21A	c.318T>G	NM_001173464.1	NP_001166935.1:p.(Ile106Met)	NC_000012.11:g.39763663A>C	VUS	1 lab	88bb2112ce
11:1268435 MUC5B C>G	11	1268435	1268435	C	G	MUC5B	c.10325C>G	NM_002458.2	NP_002449.2:p.(Thr3442Ser)	NC_000011.9:g.1268435C>G	(Likely) benign	1 lab	88bb2d928b
8:57876493 BPNT2 C>T	8	57876493	57876493	C	T	BPNT2	c.939G>A	NM_017813.4	NP_060283.3:p.(Gly313=)	NC_000008.10:g.57876493C>T	(Likely) benign	1 lab	88bbaa7f76
19:1785166 ATP8B3 G>A	19	1785166	1785166	G	A	ATP8B3	c.3524C>T	NM_138813.3	NP_620168.1:p.(Pro1175Leu)	NC_000019.9:g.1785166G>A	VUS	1 lab	88bbdf7db3
5:5462940 ICE1 T>A	5	5462940	5462940	T	A	ICE1	c.3493T>A	NM_015325.3	NP_056140.1:p.(Ser1165Thr)	NC_000005.9:g.5462940T>A	VUS	1 lab	88bc25b774
7:91855909 KRIT1 AAG>A	7	91855909	91855913	AAG	A	KRIT1	c.1075_1076del	NM_194454.3	NP_919436.1:p.(Leu359SerfsTer10)	NC_000007.13:g.91855912_91855913del	(Likely) pathogenic	1 lab	88bce62029
17:1630823 WDR81 C>G	17	1630823	1630823	C	G	WDR81	c.2570C>G	NM_001163809.1	NP_001157281.1:p.(Pro857Arg)	NC_000017.10:g.1630823C>G	VUS	1 lab	88bcf8aad8
X:154007601 MPP1 CCTT>C	X	154007601	154007606	CCTT	C	MPP1	c.1249_1251del	NM_002436.4	NP_002427.1:p.(Lys417del)	NC_000023.10:g.154007604_154007606del	VUS	1 lab	88bed2f523
18:72238504 CNDP1 C>T	18	72238504	72238504	C	T	CNDP1	c.840C>T	NM_032649.5	NP_116038.4:p.(Leu280=)	NC_000018.9:g.72238504C>T	VUS	1 lab	88c0439d17
4:41635586 LIMCH1 G>A	4	41635586	41635586	G	A	LIMCH1	c.1851G>A	NM_001330672.2	NP_001317601.1:p.(Glu617=)	NC_000004.11:g.41635586G>A	(Likely) benign	1 lab	88c045e6c4
17:48262871 COL1A1 A>G	17	48262871	48262871	A	G	COL1A1	c.4387T>C	NM_000088.4	NP_000079.2:p.(Phe1463Leu)	NC_000017.10:g.48262871A>G	(Likely) benign	1 lab	fbe99e6c8b
1:27877537 AHDC1 G>GCAAGGGCT	1	27877537	27877546	G	GCAAGGGCT	AHDC1	c.1082_1089dup	NM_001029882.3	NP_001025053.1:p.(Arg364SerfsTer91)	NC_000001.10:g.27877539_27877546dup	(Likely) pathogenic	1 lab	88c23b79e0
3:44488438 ZNF445 G>T	3	44488438	44488438	G	T	ZNF445	c.2725C>A	NM_181489.6	NP_852466.1:p.(His909Asn)	NC_000003.11:g.44488438G>T	VUS	1 lab	88c4424d3f
1:50885103 DMRTA2 G>C	1	50885103	50885103	G	C	DMRTA2	c.863C>G	NM_032110.3	NP_115486.1:p.(Ser288Cys)	NC_000001.10:g.50885103G>C	VUS	1 lab	88c5149c30
16:2114504 TSC2 GTCC>G	16	2114504	2114512	GTCC	G	TSC2	c.1599+82_1599+84del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2114510_2114512del	(Likely) benign	1 lab	88c55b043a
11:118130809 MPZL2 G>A	11	118130809	118130809	G	A	MPZL2	c.544C>T	NM_005797.4	NP_005788.1:p.(Arg182Ter)	NC_000011.9:g.118130809G>A	(Likely) pathogenic	1 lab	88c634e2a9
9:368128 DOCK8 C>T	9	368128	368128	C	T	DOCK8	c.1790C>T	NM_203447.4	NP_982272.2:p.(Ala597Val)	NC_000009.11:g.368128C>T	(Likely) benign	1 lab	fbeb0e40fa
7:82579755 PCLO C>T	7	82579755	82579755	C	T	PCLO	c.10149G>A	NM_033026.5	NP_149015.2:p.(Gln3383=)	NC_000007.13:g.82579755C>T	(Likely) benign	1 lab	88c7837bb3
14:68244926 ZFYVE26 T>A	14	68244926	68244926	T	A	ZFYVE26	c.4714A>T	NM_015346.3	NP_056161.2:p.(Ile1572Phe)	NC_000014.8:g.68244926T>A	VUS	1 lab	88c9c3e703
X:49807005 CLCN5 A>G	X	49807005	49807005	A	G	CLCN5	c.97A>G	NM_001127899.3	NP_001121371.1:p.(Ile33Val)	NC_000023.10:g.49807005A>G	VUS	1 lab	88ca29f8df
2:54886392 SPTBN1 C>T	2	54886392	54886392	C	T	SPTBN1	c.6345C>T	NM_003128.3	NP_003119.2:p.(Ser2115=)	NC_000002.11:g.54886392C>T	(Likely) benign	1 lab	fbf0ea303c
17:29548875 NF1 TG>T	17	29548875	29548877	TG	T	NF1	c.1651del	NM_001042492.3	NP_001035957.1:p.(Val551PhefsTer5)	NC_000017.10:g.29548877del	(Likely) pathogenic	1 lab	88cb36f91e
6:72892268 RIMS1 C>T	6	72892268	72892268	C	T	RIMS1	c.1094C>T	NM_014989.6	NP_055804.2:p.(Pro365Leu)	NC_000006.11:g.72892268C>T	VUS	1 lab	fbf2229e8d
X:70836763 CXCR3 A>T	X	70836763	70836763	A	T	CXCR3	c.700T>A	NM_001142797.1	NP_001136269.1:p.(Phe234Ile)	NC_000023.10:g.70836763A>T	(Likely) benign	1 lab	88cbd92c4f
20:49576148 MOCS3 G>A	20	49576148	49576148	G	A	MOCS3	c.769G>A	NM_014484.4	NP_055299.1:p.(Ala257Thr)	NC_000020.10:g.49576148G>A	(Likely) pathogenic	1 lab	88cc5949b4
7:154667695 DPP6 G>A	7	154667695	154667695	G	A	DPP6	c.1963G>A	NM_130797.4	NP_570629.2:p.(Ala655Thr)	NC_000007.13:g.154667695G>A	(Likely) benign	1 lab	88ccd67cc4
X:48661402 HDAC6 G>C	X	48661402	48661402	G	C	HDAC6	c.218G>C	NM_001321226.1	NP_001308155.1:p.(Gly73Ala)	NC_000023.10:g.48661402G>C	(Likely) benign	1 lab	88cd64ed19
X:53627127 HUWE1 G>A	X	53627127	53627127	G	A	HUWE1	c.3114C>T	NM_031407.6	NP_113584.3:p.(Ile1038=)	NC_000023.10:g.53627127G>A	(Likely) benign	1 lab	88cddb5deb
17:78091900 GAA T>TG	17	78091900	78091902	T	TG	GAA	c.2482-90dup	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78091902dup	(Likely) benign	1 lab	88ce92e750
12:42854140 PRICKLE1 G>A	12	42854140	42854140	G	A	PRICKLE1	c.1967C>T	NM_153026.2	NP_694571.2:p.(Thr656Ile)	NC_000012.11:g.42854140G>A	VUS	1 lab	88cedb64dd
17:41209148 BRCA1 T>C	17	41209148	41209148	T	C	BRCA1	c.5198A>G	NM_007294.3	NP_009225.1:p.(Asp1733Gly)	NC_000017.10:g.41209148T>C	(Likely) benign	1 lab	88d1d1f24f
11:118215194 CD3G G>T	11	118215194	118215194	G	T	CD3G	c.55+1G>T	NM_000073.2	NP_000064.1:p.?	NC_000011.9:g.118215194G>T	(Likely) pathogenic	1 lab	88d415f497
X:17024450 REPS2 T>C	X	17024450	17024450	T	C	REPS2	c.380T>C	NM_004726.2	NP_004717.2:p.(Ile127Thr)	NC_000023.10:g.17024450T>C	(Likely) benign	1 lab	88d4eb05fe
11:77051801 PAK1 C>T	11	77051801	77051801	C	T	PAK1	c.1006G>A	NM_001128620.2	NP_001122092.1:p.(Val336Met)	NC_000011.9:g.77051801C>T	VUS	1 lab	fbf297e495
20:2398197 TGM6 C>T	20	2398197	2398197	C	T	TGM6	c.1656C>T	NM_198994.2	NP_945345.2:p.(Ala552=)	NC_000020.10:g.2398197C>T	(Likely) benign	1 lab	88d6b92e54
13:100992428 PCCA A>T	13	100992428	100992428	A	T	PCCA	c.1558A>T	NM_000282.3	NP_000273.2:p.(Ser520Cys)	NC_000013.10:g.100992428A>T	(Likely) benign	1 lab	88d6e2f536
21:40636826 BRWD1 T>G	21	40636826	40636826	T	G	BRWD1	c.1650A>C	NM_033656.3	NP_387505.1:p.(Pro550=)	NC_000021.8:g.40636826T>G	(Likely) benign	1 lab	88d7033270
11:47354482 MYBPC3 C>T	11	47354482	47354482	C	T	MYBPC3	c.3373G>A	NM_000256.3	NP_000247.2:p.(Val1125Met)	NC_000011.9:g.47354482C>T	VUS	1 lab	88d7489b65
X:119007340 NDUFA1 G>A	X	119007340	119007340	G	A	NDUFA1	c.176G>A	NM_004541.3	NP_004532.1:p.(Arg59His)	NC_000023.10:g.119007340G>A	VUS	1 lab	88d8c78064
2:234959642 SPP2 C>T	2	234959642	234959642	C	T	SPP2	c.113C>T	NM_006944.2	NP_008875.1:p.(Ser38Phe)	NC_000002.11:g.234959642C>T	VUS	1 lab	88dc717b75
11:134055425 NCAPD3 G>GA	11	134055425	134055435	G	GA	NCAPD3	c.2046-5dup	NM_015261.2	NP_056076.1:p.?	NC_000011.9:g.134055435dup	(Likely) benign	1 lab	88dc8f1490
12:98927275 TMPO C>G	12	98927275	98927275	C	G	TMPO	c.1240C>G	NM_003276.2	NP_003267.1:p.(Gln414Glu)	NC_000012.11:g.98927275C>G	VUS	1 lab	88dec0550c
12:124862887 NCOR2 G>A	12	124862887	124862887	G	A	NCOR2	c.2063C>T	NM_006312.5	NP_006303.4:p.(Ala688Val)	NC_000012.11:g.124862887G>A	VUS	1 lab	88df418dc2
1:12018585 PLOD1 C>T	1	12018585	12018585	C	T	PLOD1	c.856C>T	NM_000302.3	NP_000293.2:p.(Pro286Ser)	NC_000001.10:g.12018585C>T	VUS	1 lab	88dfdea321
16:8993029 USP7 G>A	16	8993029	8993029	G	A	USP7	c.2480C>T	NM_003470.3	NP_003461.2:p.(Ala827Val)	NC_000016.9:g.8993029G>A	VUS	1 lab	fbf2b823a8
9:137653784 COL5A1 C>T	9	137653784	137653784	C	T	COL5A1	c.1949C>T	NM_000093.4	NP_000084.3:p.(Pro650Leu)	NC_000009.11:g.137653784C>T	VUS	1 lab	88e103bdcb
13:23910851 SACS G>A	13	23910851	23910851	G	A	SACS	c.7164C>T	NM_014363.5	NP_055178.3:p.(Thr2388=)	NC_000013.10:g.23910851G>A	(Likely) benign	1 lab	88e228d633
7:66262417 RABGEF1 C>A	7	66262417	66262417	C	A	RABGEF1	c.76C>A	NM_001287060.2	NP_001273989.1:p.(Arg26Ser)	NC_000007.13:g.66262417C>A	(Likely) benign	1 lab	88e2888d78
4:151199070 LRBA C>G	4	151199070	151199070	C	G	LRBA	c.8400G>C	NM_001199282.2	NP_001186211.2:p.(Lys2800Asn)	NC_000004.11:g.151199070C>G	(Likely) benign	1 lab	88e45c007c
3:148876530 HPS3 G>A	3	148876530	148876530	G	A	HPS3	c.1769G>A	NM_032383.4	NP_115759.2:p.(Arg590His)	NC_000003.11:g.148876530G>A	VUS	1 lab	88e599ceb6
11:2939280 SLC67A1 G>A	11	2939280	2939280	G	A	SLC67A1	c.973G>A	NM_001315501.1	NP_001302430.1:p.(Val325Ile)	NC_000011.9:g.2939280G>A	(Likely) benign	1 lab	88e5a5d2f6
16:69364742 COG8 C>T	16	69364742	69364742	C	T	COG8	c.1839G>A	NM_032382.4	NP_115758.3:p.(Ter613=)	NC_000016.9:g.69364742C>T	(Likely) benign	1 lab	88e5c0cfe3
5:138209436 LRRTM2 C>CT	5	138209436	138209437	C	CT	LRRTM2	c.813dup	NM_015564.3	NP_056379.1:p.(Val272SerfsTer3)	NC_000005.9:g.138209437dup	VUS	1 lab	88e626332a
9:140968504 CACNA1B A>G	9	140968504	140968504	A	G	CACNA1B	c.4843A>G	NM_000718.3	NP_000709.1:p.(Ile1615Val)	NC_000009.11:g.140968504A>G	VUS	1 lab	88e6a4a2db
10:70775705 KIFBP C>T	10	70775705	70775705	C	T	KIFBP	c.1399C>T	NM_015634.3	NP_056449.1:p.(Leu467=)	NC_000010.10:g.70775705C>T	(Likely) benign	1 lab	88e7805469
17:29550516 NF1 TA>ACT	17	29550516	29550517	TA	ACT	NF1	c.1776_1777delinsACT	NM_000267.3	NP_000258.1:p.(Ser592ArgfsTer18)	NC_000017.10:g.29550516_29550517delinsACT	(Likely) pathogenic	1 lab	88e7e80d30
6:152658123 SYNE1 G>A	6	152658123	152658123	G	A	SYNE1	c.12381C>T	NM_182961.3	NP_892006.3:p.(Asn4127=)	NC_000006.11:g.152658123G>A	(Likely) benign	1 lab	88e941c476
14:100317376 EML1 G>A	14	100317376	100317376	G	A	EML1	c.250+4G>A	NM_001008707.1	NP_001008707.1:p.?	NC_000014.8:g.100317376G>A	(Likely) benign	1 lab	88e99be309
11:17667125 OTOG C>T	11	17667125	17667125	C	T	OTOG	c.8512C>T	NM_001277269.1	NP_001264198.1:p.(Arg2838Cys)	NC_000011.9:g.17667125C>T	VUS	1 lab	88ea0f241d
12:6575150 VAMP1 C>A	12	6575150	6575150	C	A	VAMP1	c.146G>T	NM_199245.2	NP_954740.1:p.(Arg49Leu)	NC_000012.11:g.6575150C>A	VUS	1 lab	88eac93a39
17:74475364 RHBDF2 G>A	17	74475364	74475364	G	A	RHBDF2	c.360-5C>T	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74475364G>A	(Likely) benign	1 lab	88ec4b9c96
X:153688775 PLXNA3 C>T	X	153688775	153688775	C	T	PLXNA3	c.252C>T	NM_017514.4	NP_059984.3:p.(Arg84=)	NC_000023.10:g.153688775C>T	(Likely) benign	1 lab	88ecde8991
2:233712274 GIGYF2 A>C	2	233712274	233712274	A	C	GIGYF2	c.3740A>C	NM_001103147.1	NP_001096617.1:p.(Gln1247Pro)	NC_000002.11:g.233712274A>C	(Likely) benign	1 lab	88ede659df
1:240341335 FMN2 G>A	1	240341335	240341335	G	A	FMN2	c.1897G>A	NM_001305424.1	NP_001292353.1:p.(Asp633Asn)	NC_000001.10:g.240341335G>A	(Likely) benign	1 lab	88ef3386db
2:212426661 ERBB4 T>C	2	212426661	212426661	T	C	ERBB4	c.2454A>G	NM_005235.2	NP_005226.1:p.(Gln818=)	NC_000002.11:g.212426661T>C	(Likely) benign	1 lab	88f07d39f5
19:36228975 KMT2B C>T	19	36228975	36228975	C	T	KMT2B	c.7755C>T	NM_014727.2	NP_055542.1:p.(His2585=)	NC_000019.9:g.36228975C>T	(Likely) benign	1 lab	88f21398a9
7:45039968 CCM2 C>T	7	45039968	45039968	C	T	CCM2	c.30+6C>T	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45039968C>T	(Likely) pathogenic	1 lab	fbfc35c70f
13:32930707 BRCA2 A>G	13	32930707	32930707	A	G	BRCA2	c.7578A>G	NM_000059.3	NP_000050.2:p.(Ala2526=)	NC_000013.10:g.32930707A>G	VUS	1 lab	88f4e21ef8
17:40695952 NAGLU G>A	17	40695952	40695952	G	A	NAGLU	c.1928G>A	NM_000263.3	NP_000254.2:p.(Arg643His)	NC_000017.10:g.40695952G>A	VUS	1 lab	88f5501699
7:44148571 AEBP1 G>A	7	44148571	44148571	G	A	AEBP1	c.1014G>A	NM_001129.4	NP_001120.3:p.(Glu338=)	NC_000007.13:g.44148571G>A	(Likely) benign	1 lab	88f82de48e
12:52962010 KRT74 A>G	12	52962010	52962010	A	G	KRT74	c.1298T>C	NM_175053.3	NP_778223.2:p.(Leu433Pro)	NC_000012.11:g.52962010A>G	VUS	1 lab	88f83e1581
15:100537651 ADAMTS17 G>A	15	100537651	100537651	G	A	ADAMTS17	c.2735C>T	NM_139057.3	NP_620688.2:p.(Ala912Val)	NC_000015.9:g.100537651G>A	VUS	1 lab	88fa02f909
16:1255249 CACNA1H A>T	16	1255249	1255249	A	T	CACNA1H	c.2587A>T	NM_021098.2	NP_066921.2:p.(Ile863Phe)	NC_000016.9:g.1255249A>T	(Likely) benign	1 lab	88fdfc39d5
9:139418319 NOTCH1 A>G	9	139418319	139418319	A	G	NOTCH1	c.253T>C	NM_017617.5	NP_060087.3:p.(Tyr85His)	NC_000009.11:g.139418319A>G	VUS	1 lab	88fe27bfa9
13:111154159 COL4A2 C>T	13	111154159	111154159	C	T	COL4A2	c.3877+28C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111154159C>T	(Likely) benign	1 lab	88fea0046d
7:117230452 CFTR TGG>AT	7	117230452	117230454	TGG	AT	CFTR	c.1725_1727delinsAT	NM_000492.3	NP_000483.3:p.(Phe575LeufsTer4)	NC_000007.13:g.117230452_117230454delinsAT	(Likely) pathogenic	1 lab	88fef65cb6
3:4491010 SUMF1 G>A	3	4491010	4491010	G	A	SUMF1	c.459C>T	NM_182760.3	NP_877437.2:p.(Gly153=)	NC_000003.11:g.4491010G>A	(Likely) benign	1 lab	88ff8e3c07
17:29554567 NF1 G>C	17	29554567	29554567	G	C	NF1	c.2352G>C	NM_000267.3	NP_000258.1:p.(Trp784Cys)	NC_000017.10:g.29554567G>C	(Likely) pathogenic	1 lab	88ffc02a4b
15:80460501 FAH C>T	15	80460501	80460501	C	T	FAH	c.553+10C>T	NM_000137.2	NP_000128.1:p.?	NC_000015.9:g.80460501C>T	(Likely) benign	1 lab	8900649463
11:121485639 SORL1 G>T	11	121485639	121485639	G	T	SORL1	c.5479G>T	NM_003105.5	NP_003096.1:p.(Gly1827Trp)	NC_000011.9:g.121485639G>T	VUS	1 lab	8900fb3d69
14:29237255 FOXG1 T>G	14	29237255	29237255	T	G	FOXG1	c.770T>G	NM_005249.4	NP_005240.3:p.(Leu257Arg)	NC_000014.8:g.29237255T>G	VUS	1 lab	8901b0d04f
21:47831428 PCNT GC>G	21	47831428	47831430	GC	G	PCNT	c.5443del	NM_006031.6	NP_006022.3:p.(Gln1815ArgfsTer28)	NC_000021.8:g.47831430del	(Likely) pathogenic	1 lab	8901db6067
3:87302864 CHMP2B G>T	3	87302864	87302864	G	T	CHMP2B	c.534G>T	NM_014043.3	NP_054762.2:p.(Met178Ile)	NC_000003.11:g.87302864G>T	VUS	1 lab	8903992220
17:78086463 GAA C>T	17	78086463	78086463	C	T	GAA	c.1841C>T	NM_000152.5	NP_000143.2:p.(Thr614Met)	NC_000017.10:g.78086463C>T	(Likely) pathogenic	1 lab	fbfd38f4ed
17:72305497 DNAI2 C>A	17	72305497	72305497	C	A	DNAI2	c.1317C>A	NM_023036.5	NP_075462.3:p.(Phe439Leu)	NC_000017.10:g.72305497C>A	VUS	1 lab	89058429fd
1:45481018 UROD G>A	1	45481018	45481018	G	A	UROD	c.952G>A	NM_000374.5	NP_000365.3:p.(Gly318Arg)	NC_000001.10:g.45481018G>A	VUS	1 lab	8907daca0b
11:126162878 TIRAP C>T	11	126162878	126162878	C	T	TIRAP	c.574C>T	NM_148910.3	NP_683708.1:p.(Arg192Ter)	NC_000011.9:g.126162878C>T	VUS	1 lab	fbfd784d37
2:179571452 TTN AG>A	2	179571452	179571454	AG	A	TTN	c.29148del	NM_001267550.2	NP_001254479.2:p.(Phe9717SerfsTer23)	NC_000002.11:g.179571454del	VUS	1 lab	fc037a5655
5:90074678 ADGRV1 A>T	5	90074678	90074678	A	T	ADGRV1	c.12850-4A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90074678A>T	(Likely) benign	1 lab	890c498b2b
1:152189505 HRNR C>T	1	152189505	152189505	C	T	HRNR	c.4600G>A	NM_001009931.2	NP_001009931.1:p.(Gly1534Ser)	NC_000001.10:g.152189505C>T	(Likely) benign	1 lab	890ce6a75b
7:618869 PRKAR1B G>A	7	618869	618869	G	A	PRKAR1B	c.891+24C>T	NM_001164761.1	NP_001158233.1:p.?	NC_000007.13:g.618869G>A	(Likely) benign	1 lab	890d0f49f5
X:64956735 MSN G>C	X	64956735	64956735	G	C	MSN	c.1038G>C	NM_002444.2	NP_002435.1:p.(Glu346Asp)	NC_000023.10:g.64956735G>C	VUS	1 lab	890d611218
6:112462574 LAMA4 A>G	6	112462574	112462574	A	G	LAMA4	c.2799T>C	NM_001105206.2	NP_001098676.2:p.(Ile933=)	NC_000006.11:g.112462574A>G	(Likely) benign	1 lab	890e13b0e5
X:108697000 GUCY2F C>T	X	108697000	108697000	C	T	GUCY2F	c.1121G>A	NM_001522.2	NP_001513.2:p.(Gly374Asp)	NC_000023.10:g.108697000C>T	(Likely) benign	1 lab	890ef141f6
11:94197260 MRE11 A>G	11	94197260	94197260	A	G	MRE11	c.1225+19T>C	NM_005591.3	NP_005582.1:p.?	NC_000011.9:g.94197260A>G	(Likely) benign	1 lab	890f949449
3:41274933 CTNNB1 CAG>C	3	41274933	41274935	CAG	C	CTNNB1	c.1184_1185del	NM_001904.4	NP_001895.1:p.(Gln395ArgfsTer18)	NC_000003.11:g.41274934_41274935del	(Likely) pathogenic	1 lab	89104d2c20
2:32422446 SLC30A6 C>T	2	32422446	32422446	C	T	SLC30A6	c.383C>T	NM_001330479.1	NP_001317408.1:p.(Ala128Val)	NC_000002.11:g.32422446C>T	VUS	1 lab	8910766a82
21:37833304 CLDN14 G>A	21	37833304	37833304	G	A	CLDN14	c.690C>T	NM_144492.2	NP_652763.1:p.(His230=)	NC_000021.8:g.37833304G>A	(Likely) benign	1 lab	89112dc1b3
18:6958589 LAMA1 C>T	18	6958589	6958589	C	T	LAMA1	c.7851G>A	NM_005559.3	NP_005550.2:p.(Thr2617=)	NC_000018.9:g.6958589C>T	(Likely) benign	1 lab	891459caee
22:32887167 FBXO7 A>G	22	32887167	32887167	A	G	FBXO7	c.966A>G	NM_012179.3	NP_036311.3:p.(Gln322=)	NC_000022.10:g.32887167A>G	VUS	1 lab	8914626f1d
3:121208444 POLQ TTTTA>T	3	121208444	121208450	TTTTA	T	POLQ	c.3330_3333del	NM_199420.4	NP_955452.3:p.(Asn1110LysfsTer8)	NC_000003.11:g.121208447_121208450del	VUS	1 lab	89157b46eb
6:33138376 COL11A2 G>C	6	33138376	33138376	G	C	COL11A2	c.3486C>G	NM_080680.2	NP_542411.2:p.(Gly1162=)	NC_000006.11:g.33138376G>C	(Likely) benign	1 lab	8917cc6119
4:36318096 DTHD1 GA>G	4	36318096	36318099	GA	G	DTHD1	c.2331del	NM_001170700.3	NP_001164171.2:p.(Lys777AsnfsTer8)	NC_000004.11:g.36318099del	VUS	1 lab	8919d375be
5:135364765 TGFBI G>A	5	135364765	135364765	G	A	TGFBI	c.21G>A	NM_000358.2	NP_000349.1:p.(Leu7=)	NC_000005.9:g.135364765G>A	(Likely) benign	1 lab	891a39aef2
2:86274321 POLR1A C>T	2	86274321	86274321	C	T	POLR1A	c.2700G>A	NM_015425.5	NP_056240.2:p.(Ser900=)	NC_000002.11:g.86274321C>T	(Likely) benign	1 lab	891b1ac320
5:35910611 CAPSL T>A	5	35910611	35910611	T	A	CAPSL	c.172A>T	NM_144647.3	NP_653248.3:p.(Thr58Ser)	NC_000005.9:g.35910611T>A	(Likely) benign	1 lab	891cd0b319
15:74490132 STRA6 T>C	15	74490132	74490132	T	C	STRA6	c.258A>G	NM_001199042.1	NP_001185971.1:p.(Ile86Met)	NC_000015.9:g.74490132T>C	VUS	1 lab	891db63781
4:79353746 FRAS1 C>A	4	79353746	79353746	C	A	FRAS1	c.5205C>A	NM_025074.7	NP_079350.5:p.(His1735Gln)	NC_000004.11:g.79353746C>A	VUS	1 lab	891df9e876
19:41060213 SPTBN4 G>C	19	41060213	41060213	G	C	SPTBN4	c.4835G>C	NM_020971.3	NP_066022.2:p.(Arg1612Pro)	NC_000019.9:g.41060213G>C	VUS	1 lab	fc03a79098
9:100124123 CCDC180 G>A	9	100124123	100124123	G	A	CCDC180	c.3731G>A	NM_020893.3	NP_065944.2:p.(Arg1244His)	NC_000009.11:g.100124123G>A	VUS	1 lab	891f2f0ff3
15:28386965 HERC2 C>G	15	28386965	28386965	C	G	HERC2	c.11728G>C	NM_004667.5	NP_004658.3:p.(Ala3910Pro)	NC_000015.9:g.28386965C>G	(Likely) benign	1 lab	8920fa721c
17:34073391 GAS2L2 C>T	17	34073391	34073391	C	T	GAS2L2	c.1125G>A	NM_139285.3	NP_644814.1:p.(Pro375=)	NC_000017.10:g.34073391C>T	(Likely) benign	1 lab	8922cc4e83
3:133185744 BFSP2 CACA>C	3	133185744	133185750	CACA	C	BFSP2	c.968_970del	NM_003571.4	NP_003562.1:p.(Asn323del)	NC_000003.11:g.133185748_133185750del	VUS	1 lab	89260b591a
1:160616667 SLAMF1 G>A	1	160616667	160616667	G	A	SLAMF1	c.69C>T	NM_003037.4	NP_003028.1:p.(Tyr23=)	NC_000001.10:g.160616667G>A	(Likely) benign	1 lab	892877fbe4
15:62238002 VPS13C G>A	15	62238002	62238002	G	A	VPS13C	c.5060C>T	NM_001018088.2	NP_001018098.1:p.(Ala1687Val)	NC_000015.9:g.62238002G>A	(Likely) benign	1 lab	89291b80d3
X:18593508 CDKL5 G>A	X	18593508	18593508	G	A	CDKL5	c.180G>A	NM_001323289.1	NP_001310218.1:p.(Glu60=)	NC_000023.10:g.18593508G>A	(Likely) benign	1 lab	8929aeb2aa
17:18067149 MYO15A C>T	17	18067149	18067149	C	T	MYO15A	c.9784C>T	NM_016239.3	NP_057323.3:p.(Arg3262Cys)	NC_000017.10:g.18067149C>T	VUS	1 lab	892b3ee628
3:48630056 COL7A1 A>G	3	48630056	48630056	A	G	COL7A1	c.923T>C	NM_000094.3	NP_000085.1:p.(Ile308Thr)	NC_000003.11:g.48630056A>G	(Likely) benign	1 lab	892cfd4bef
14:91739046 CCDC88C C>T	14	91739046	91739046	C	T	CCDC88C	c.6010G>A	NM_001080414.3	NP_001073883.2:p.(Val2004Ile)	NC_000014.8:g.91739046C>T	(Likely) benign	1 lab	892ed19c05
2:197085631 HECW2 T>C	2	197085631	197085631	T	C	HECW2	c.4181A>G	NM_020760.3	NP_065811.1:p.(Asn1394Ser)	NC_000002.11:g.197085631T>C	(Likely) benign	1 lab	892fe91551
1:235926081 LYST G>A	1	235926081	235926081	G	A	LYST	c.6192C>T	NM_001301365.1	NP_001288294.1:p.(Ser2064=)	NC_000001.10:g.235926081G>A	(Likely) benign	1 lab	892ff364eb
22:38528924 PLA2G6 C>T	22	38528924	38528924	C	T	PLA2G6	c.457G>A	NM_001349867.2	NP_001336796.1:p.(Asp153Asn)	NC_000022.10:g.38528924C>T	VUS	1 lab	fc03d46712
2:74372356 BOLA3 C>CT	2	74372356	74372360	C	CT	BOLA3	c.128dup	NM_212552.2	NP_997717.2:p.(Phe44ValfsTer11)	NC_000002.11:g.74372360dup	(Likely) pathogenic	1 lab	893449b446
9:100132281 CCDC180 C>T	9	100132281	100132281	C	T	CCDC180	c.4399C>T	NM_020893.3	NP_065944.2:p.(His1467Tyr)	NC_000009.11:g.100132281C>T	(Likely) benign	1 lab	8934e05623
17:29657312 NF1 A>G	17	29657312	29657312	A	G	NF1	c.5547-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29657312A>G	(Likely) pathogenic	1 lab	89355467e0
X:56292098 KLF8 T>C	X	56292098	56292098	T	C	KLF8	c.567T>C	NM_007250.5	NP_009181.2:p.(Tyr189=)	NC_000023.10:g.56292098T>C	(Likely) benign	1 lab	8937494680
X:53578034 HUWE1 A>G	X	53578034	53578034	A	G	HUWE1	c.9213T>C	NM_031407.6	NP_113584.3:p.(Arg3071=)	NC_000023.10:g.53578034A>G	(Likely) benign	1 lab	893762cae2
10:73466729 CDH23 G>A	10	73466729	73466729	G	A	CDH23	c.3029G>A	NM_022124.5	NP_071407.4:p.(Arg1010His)	NC_000010.10:g.73466729G>A	VUS	1 lab	893880012b
2:186656868 FSIP2 G>A	2	186656868	186656868	G	A	FSIP2	c.5005G>A	NM_173651.3	NP_775922.3:p.(Val1669Ile)	NC_000002.11:g.186656868G>A	(Likely) benign	1 lab	8939178593
3:38051690 PLCD1 C>T	3	38051690	38051690	C	T	PLCD1	c.1132G>A	NM_001130964.1	NP_001124436.1:p.(Gly378Ser)	NC_000003.11:g.38051690C>T	VUS	1 lab	893a3a0e15
X:21863472 MBTPS2 G>A	X	21863472	21863472	G	A	MBTPS2	c.408G>A	NM_015884.3	NP_056968.1:p.(Ser136=)	NC_000023.10:g.21863472G>A	(Likely) benign	1 lab	893a986d90
X:119694461 CUL4B G>A	X	119694461	119694461	G	A	CUL4B	c.87C>T	NM_003588.3	NP_003579.3:p.(Pro29=)	NC_000023.10:g.119694461G>A	(Likely) benign	1 lab	893d32319b
17:27065187 NEK8 G>C	17	27065187	27065187	G	C	NEK8	c.1146G>C	NM_178170.3	NP_835464.1:p.(Ser382=)	NC_000017.10:g.27065187G>C	(Likely) benign	1 lab	893d6d8673
16:3304379 MEFV T>A	16	3304379	3304379	T	A	MEFV	c.689A>T	NM_000243.3	NP_000234.1:p.(Glu230Val)	NC_000016.9:g.3304379T>A	VUS	1 lab	fc0d2e6c63
11:67938502 KMT5B G>A	11	67938502	67938502	G	A	KMT5B	c.441C>T	NM_001300907.1	NP_001287836.1:p.(Cys147=)	NC_000011.9:g.67938502G>A	(Likely) benign	1 lab	89415ba81d
1:3328970 PRDM16 C>T	1	3328970	3328970	C	T	PRDM16	c.2209C>T	NM_022114.4	NP_071397.3:p.(Leu737Phe)	NC_000001.10:g.3328970C>T	(Likely) benign	1 lab	fc14b57515
6:7585910 DSP C>T	6	7585910	7585910	C	T	DSP	c.8415C>T	NM_004415.2	NP_004406.2:p.(Ala2805=)	NC_000006.11:g.7585910C>T	(Likely) benign	1 lab	89428d1d8d
2:241808307 AGXT A>AC	2	241808307	241808315	A	AC	AGXT	c.33dup	NM_000030.2	NP_000021.1:p.(Lys12GlnfsTer156)	NC_000002.11:g.241808315dup	(Likely) pathogenic	1 lab	8942de0fae
2:27668612 IFT172 C>T	2	27668612	27668612	C	T	IFT172	c.4914G>A	NM_015662.2	NP_056477.1:p.(Pro1638=)	NC_000002.11:g.27668612C>T	VUS	1 lab	8943c09e9b
X:25031809 ARX T>C	X	25031809	25031809	T	C	ARX	c.303A>G	NM_139058.2	NP_620689.1:p.(Ala101=)	NC_000023.10:g.25031809T>C	(Likely) benign	1 lab	89473f1d12
4:15552524 CC2D2A C>T	4	15552524	15552524	C	T	CC2D2A	c.2259C>T	NM_001080522.2	NP_001073991.2:p.(Val753=)	NC_000004.11:g.15552524C>T	(Likely) benign	1 lab	8947f43d71
2:211447337 CPS1 A>T	2	211447337	211447337	A	T	CPS1	c.529-4A>T	NM_001875.4	NP_001866.2:p.?	NC_000002.11:g.211447337A>T	(Likely) benign	1 lab	8948acf92e
1:235904746 LYST T>G	1	235904746	235904746	T	G	LYST	c.8334A>C	NM_001301365.1	NP_001288294.1:p.(Arg2778=)	NC_000001.10:g.235904746T>G	(Likely) benign	1 lab	8949a29495
11:5247806 HBB C>T	11	5247806	5247806	C	T	HBB	c.315+1G>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247806C>T	VUS	1 lab	894b03dcac
9:138713193 CAMSAP1 G>A	9	138713193	138713193	G	A	CAMSAP1	c.3314C>T	NM_015447.4	NP_056262.3:p.(Ala1105Val)	NC_000009.11:g.138713193G>A	(Likely) benign	1 lab	894b043793
X:57620579 ZXDB A>G	X	57620579	57620579	A	G	ZXDB	c.2098A>G	NM_007157.3	NP_009088.1:p.(Ser700Gly)	NC_000023.10:g.57620579A>G	(Likely) benign	1 lab	894bf1048d
X:13771559 OFD1 A>C	X	13771559	13771559	A	C	OFD1	c.708A>C	NM_001330210.1	NP_001317139.1:p.(Lys236Asn)	NC_000023.10:g.13771559A>C	VUS	1 lab	894da25274
2:152466406 NEB G>A	2	152466406	152466406	G	A	NEB	c.12247C>T	NM_001271208.1	NP_001258137.1:p.(Arg4083Cys)	NC_000002.11:g.152466406G>A	VUS	1 lab	894efdfca5
4:6302890 WFS1 C>T	4	6302890	6302890	C	T	WFS1	c.1368C>T	NM_006005.3	NP_005996.2:p.(Arg456=)	NC_000004.11:g.6302890C>T	(Likely) benign	1 lab	89512479fc
2:47168735 TTC7A C>A	2	47168735	47168735	C	A	TTC7A	c.55C>A	NM_001288951.1	NP_001275880.1:p.(Arg19Ser)	NC_000002.11:g.47168735C>A	VUS	1 lab	8951e05cd3
9:95018964 IARS1 G>A	9	95018964	95018964	G	A	IARS1	c.2135C>T	NM_013417.3	NP_038203.2:p.(Ala712Val)	NC_000009.11:g.95018964G>A	VUS	1 lab	8952fced21
17:18022495 MYO15A C>G	17	18022495	18022495	C	G	MYO15A	c.381C>G	NM_016239.3	NP_057323.3:p.(Leu127=)	NC_000017.10:g.18022495C>G	(Likely) benign	1 lab	895393cfcf
20:45355501 SLC2A10 A>G	20	45355501	45355501	A	G	SLC2A10	c.1289-2A>G	NM_030777.3	NP_110404.1:p.?	NC_000020.10:g.45355501A>G	(Likely) pathogenic	1 lab	895470620a
4:25667747 SLC34A2 C>T	4	25667747	25667747	C	T	SLC34A2	c.377-3C>T	NM_001177999.1	NP_001171470.1:p.?	NC_000004.11:g.25667747C>T	(Likely) benign	1 lab	8954faf36a
8:145541079 DGAT1 G>A	8	145541079	145541079	G	A	DGAT1	c.1011C>T	NM_012079.5	NP_036211.2:p.(Phe337=)	NC_000008.10:g.145541079G>A	(Likely) benign	1 lab	89564619e4
2:179605912 TTN C>T	2	179605912	179605912	C	T	TTN	c.12048G>A	NM_001267550.1	NP_001254479.1:p.(Met4016Ile)	NC_000002.11:g.179605912C>T	VUS	1 lab	895751c895
1:235967970 LYST G>A	1	235967970	235967970	G	A	LYST	c.3394-5C>T	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235967970G>A	(Likely) benign	1 lab	8957af28ac
X:153692373 PLXNA3 C>T	X	153692373	153692373	C	T	PLXNA3	c.1627C>T	NM_017514.4	NP_059984.3:p.(Arg543Trp)	NC_000023.10:g.153692373C>T	VUS	1 lab	8957f3ac34
7:5541511 FBXL18 T>C	7	5541511	5541511	T	C	FBXL18	c.389A>G	NM_024963.6	NP_079239.3:p.(His130Arg)	NC_000007.13:g.5541511T>C	(Likely) benign	1 lab	8958ab662b
14:81964357 SEL1L A>G	14	81964357	81964357	A	G	SEL1L	c.1007T>C	NM_005065.5	NP_005056.3:p.(Val336Ala)	NC_000014.8:g.81964357A>G	VUS	1 lab	8958c382b9
X:150349633 GPR50 C>T	X	150349633	150349633	C	T	GPR50	c.1578C>T	NM_004224.3	NP_004215.2:p.(Thr526=)	NC_000023.10:g.150349633C>T	(Likely) benign	1 lab	895a35d47b
2:179397113 TTN A>G	2	179397113	179397113	A	G	TTN	c.104229T>C	NM_001267550.1	NP_001254479.1:p.(Tyr34743=)	NC_000002.11:g.179397113A>G	(Likely) benign	1 lab	895a3f74eb
15:42978186 STARD9 C>T	15	42978186	42978186	C	T	STARD9	c.4410C>T	NM_020759.3	NP_065810.2:p.(Ala1470=)	NC_000015.9:g.42978186C>T	(Likely) benign	1 lab	895abb0bf8
16:89986459 MC1R G>A	16	89986459	89986459	G	A	MC1R	c.793G>A	NM_002386.3	NP_002377.4:p.(Val265Ile)	NC_000016.9:g.89986459G>A	(Likely) benign	1 lab	895d119934
1:40236797 OXCT2 G>T	1	40236797	40236797	G	T	OXCT2	c.131C>A	NM_022120.1	NP_071403.1:p.(Ala44Glu)	NC_000001.10:g.40236797G>T	(Likely) benign	1 lab	8960dc9b81
13:113740571 MCF2L G>A	13	113740571	113740571	G	A	MCF2L	c.2367+8G>A	NM_024979.4	NP_079255.4:p.?	NC_000013.10:g.113740571G>A	(Likely) benign	1 lab	896161d8ac
3:184039670 EIF4G1 C>T	3	184039670	184039670	C	T	EIF4G1	c.1319C>T	NM_001194946.1	NP_001181875.1:p.(Ala440Val)	NC_000003.11:g.184039670C>T	(Likely) benign	1 lab	89624e1686
2:29416760 ALK G>A	2	29416760	29416760	G	A	ALK				NC_000002.11:g.29416760G>A	VUS	1 lab	8962c6d434
5:135390555 TGFBI G>A	5	135390555	135390555	G	A	TGFBI	c.1410+5G>A	NM_000358.2	NP_000349.1:p.?	NC_000005.9:g.135390555G>A	VUS	1 lab	8962cc2dce
6:39874293 MOCS1 C>T	6	39874293	39874293	C	T	MOCS1	c.*608G>A	NM_001075098.3	NP_001068566.1:p.?	NC_000006.11:g.39874293C>T	VUS	1 lab	897d7756a2
X:63551600 MTMR8 G>A	X	63551600	63551600	G	A	MTMR8	c.1189C>T	NM_017677.3	NP_060147.2:p.(Pro397Ser)	NC_000023.10:g.63551600G>A	VUS	1 lab	89634504d8
15:90192473 KIF7 T>C	15	90192473	90192473	T	C	KIF7	c.655A>G	NM_198525.2	NP_940927.2:p.(Thr219Ala)	NC_000015.9:g.90192473T>C	VUS	1 lab	896633abfb
19:1004654 GRIN3B C>T	19	1004654	1004654	C	T	GRIN3B	c.1154C>T	NM_138690.3	NP_619635.1:p.(Thr385Met)	NC_000019.9:g.1004654C>T	VUS	1 lab	fc15596190
X:77150927 MAGT1 A>G	X	77150927	77150927	A	G	MAGT1	c.77T>C	NM_032121.5	NP_115497.4:p.(Ile26Thr)	NC_000023.10:g.77150927A>G	(Likely) benign	1 lab	8967eaee94
8:100883133 VPS13B C>T	8	100883133	100883133	C	T	VPS13B	c.11570+18C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100883133C>T	(Likely) benign	1 lab	8967f234cb
17:18430023 FAM106A G>C	17	18430023	18430023	G	C	FAM106A	c.95C>G	NM_024974.2	NP_079250.1:p.(Ser32Cys)	NC_000017.10:g.18430023G>C	VUS	1 lab	896a9a67d1
16:81927407 PLCG2 G>A	16	81927407	81927407	G	A	PLCG2	c.1072+8G>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81927407G>A	(Likely) benign	1 lab	896ab04d32
12:110783143 ATP2A2 G>T	12	110783143	110783143	G	T	ATP2A2	c.2697G>T	NM_001681.4	NP_001672.1:p.(Ala899=)	NC_000012.11:g.110783143G>T	(Likely) benign	1 lab	fc15f45559
5:32780905 NPR3 G>A	5	32780905	32780905	G	A	NPR3	c.1273G>A	NM_001204375.2	NP_001191304.1:p.(Glu425Lys)	NC_000005.9:g.32780905G>A	VUS	1 lab	896f0775a0
5:1295028 TERT G>A	5	1295028	1295028	G	A	TERT	c.77C>T	NM_198253.2	NP_937983.2:p.(Thr26Met)	NC_000005.9:g.1295028G>A	VUS	1 lab	89712421d0
20:31022852 ASXL1 T>G	20	31022852	31022852	T	G	ASXL1	c.2337T>G	NM_015338.5	NP_056153.2:p.(Pro779=)	NC_000020.10:g.31022852T>G	(Likely) benign	1 lab	8971832a71
X:151818902 GABRQ C>T	X	151818902	151818902	C	T	GABRQ	c.760C>T	NM_018558.3	NP_061028.3:p.(Arg254Cys)	NC_000023.10:g.151818902C>T	VUS	1 lab	8971ef1b61
4:88583131 DMP1 T>G	4	88583131	88583131	T	G	DMP1	c.201T>G	NM_004407.3	NP_004398.1:p.(Ser67Arg)	NC_000004.11:g.88583131T>G	VUS	1 lab	8972b8eff1
16:28498850 CLN3 G>A	16	28498850	28498850	G	A	CLN3	c.387C>T	NM_001042432.1	NP_001035897.1:p.(Leu129=)	NC_000016.9:g.28498850G>A	(Likely) benign	1 lab	8972fc1729
19:6718358 C3 G>A	19	6718358	6718358	G	A	C3	c.333C>T	NM_000064.2	NP_000055.2:p.(Thr111=)	NC_000019.9:g.6718358G>A	(Likely) benign	1 lab	89735f6ab4
6:13801619 MCUR1 T>C	6	13801619	13801619	T	C	MCUR1	c.642A>G	NM_001031713.3	NP_001026883.1:p.(Glu214=)	NC_000006.11:g.13801619T>C	(Likely) benign	1 lab	8975ab62fe
6:65336009 EYS A>G	6	65336009	65336009	A	G	EYS	c.3568+5T>C	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65336009A>G	(Likely) benign	1 lab	8977ccdf5b
16:30723365 SRCAP A>G	16	30723365	30723365	A	G	SRCAP	c.1702A>G	NM_006662.2	NP_006653.2:p.(Ser568Gly)	NC_000016.9:g.30723365A>G	(Likely) benign	1 lab	897926d58e
X:151870086 MAGEA6 G>A	X	151870086	151870086	G	A	MAGEA6	c.776G>A	NM_175868.2	NP_787064.1:p.(Arg259Gln)	NC_000023.10:g.151870086G>A	VUS	1 lab	897a4ce0cb
5:37008112 NIPBL T>G	5	37008112	37008112	T	G	NIPBL	c.4242T>G	NM_015384.4	NP_056199.2:p.(Val1414=)	NC_000005.9:g.37008112T>G	(Likely) benign	1 lab	897a77b7db
10:78674773 KCNMA1 T>C	10	78674773	78674773	T	C	KCNMA1	c.2784A>G	NM_001322830.1	NP_001309759.1:p.(Pro928=)	NC_000010.10:g.78674773T>C	(Likely) benign	1 lab	897c6f7198
8:23159644 LOXL2 C>T	8	23159644	23159644	C	T	LOXL2	c.2029G>A	NM_002318.2	NP_002309.1:p.(Gly677Ser)	NC_000008.10:g.23159644C>T	VUS	1 lab	897cdc57c8
2:233708970 GIGYF2 GT>G	2	233708970	233708971	GT	G	GIGYF2	c.3099+6del	NM_001103146.3	NP_001096616.1:p.?	NC_000002.11:g.233708971del	VUS	1 lab	897dce8bb0
19:48640808 LIG1 G>A	19	48640808	48640808	G	A	LIG1	c.1222C>T	NM_001320970.1	NP_001307899.1:p.(Arg408Cys)	NC_000019.9:g.48640808G>A	VUS	1 lab	897e3cf557
15:62246669 VPS13C AT>A	15	62246669	62246672	AT	A	VPS13C	c.4249del	NM_020821.3	NP_065872.1:p.(Ile1417LeufsTer4)	NC_000015.9:g.62246672del	VUS	1 lab	897edc9eee
15:40993318 RAD51 T>C	15	40993318	40993318	T	C	RAD51	c.144T>C	NM_133487.3	NP_597994.3:p.(Thr48=)	NC_000015.9:g.40993318T>C	(Likely) benign	1 lab	897f70cd04
9:439371 DOCK8 G>A	9	439371	439371	G	A	DOCK8	c.5206G>A	NM_203447.3	NP_982272.2:p.(Ala1736Thr)	NC_000009.11:g.439371G>A	VUS	1 lab	898144cda5
1:186415594 PDC C>T	1	186415594	186415594	C	T	PDC	c.177G>A	NM_002597.4	NP_002588.3:p.(Arg59=)	NC_000001.10:g.186415594C>T	(Likely) benign	1 lab	8981a46073
X:141291448 MAGEC2 C>A	X	141291448	141291448	C	A	MAGEC2	c.326G>T	NM_016249.3	NP_057333.1:p.(Trp109Leu)	NC_000023.10:g.141291448C>A	(Likely) benign	1 lab	8983dc39ce
6:3154112 TUBB2A G>A	6	3154112	3154112	G	A	TUBB2A	c.1323C>T	NM_001069.2	NP_001060.1:p.(Gly441=)	NC_000006.11:g.3154112G>A	(Likely) benign	1 lab	898663f794
7:128481338 FLNC T>A	7	128481338	128481338	T	A	FLNC	c.1928T>A	NM_001458.4	NP_001449.3:p.(Ile643Asn)	NC_000007.13:g.128481338T>A	VUS	1 lab	8986c3aae7
2:179484771 TTN C>T	2	179484771	179484771	C	T	TTN	c.46373G>A	NM_001267550.1	NP_001254479.1:p.(Cys15458Tyr)	NC_000002.11:g.179484771C>T	VUS	1 lab	898822425f
2:179427674 TTN T>C	2	179427674	179427674	T	C	TTN	c.83185A>G	NM_001267550.1	NP_001254479.1:p.(Thr27729Ala)	NC_000002.11:g.179427674T>C	VUS	1 lab	8988d10d20
17:29657473 NF1 GT>G	17	29657473	29657475	GT	G	NF1	c.5771del	NM_001042492.3	NP_001035957.1:p.(Leu1924Ter)	NC_000017.10:g.29657475del	(Likely) pathogenic	1 lab	89895e0e47
18:43529530 EPG5 G>A	18	43529530	43529530	G	A	EPG5	c.1417C>T	NM_020964.3	NP_066015.2:p.(Pro473Ser)	NC_000018.9:g.43529530G>A	VUS	1 lab	898976c0bf
2:121554926 GLI2 C>T	2	121554926	121554926	C	T	GLI2	c.30C>T	NM_005270.4	NP_005261.2:p.(Ser10=)	NC_000002.11:g.121554926C>T	(Likely) benign	1 lab	8989b0b8df
16:5140289 EEF2KMT G>A	16	5140289	5140289	G	A	EEF2KMT	c.538C>T	NM_201400.3	NP_958802.1:p.(Arg180Cys)	NC_000016.9:g.5140289G>A	VUS	1 lab	898b89bc75
17:29554571 NF1 C>T	17	29554571	29554571	C	T	NF1	c.2356C>T	NM_000267.3	NP_000258.1:p.(Gln786Ter)	NC_000017.10:g.29554571C>T	(Likely) pathogenic	1 lab	8991bbb772
14:24569343 PCK2 C>T	14	24569343	24569343	C	T	PCK2	c.753C>T	NM_001308054.1	NP_001294983.1:p.(Gly251=)	NC_000014.8:g.24569343C>T	(Likely) benign	1 lab	8991c8ce7e
17:29509563 NF1 TGCTGAAAGCACCAAACGTAAA>T	17	29509563	29509586	TGCTGAAAGCACCAAACGTAAA	T	NF1	c.771_791del	NM_001042492.3	NP_001035957.1:p.(Glu258_Ala264del)	NC_000017.10:g.29509566_29509586del	VUS	1 lab	899347c827
4:114176897 ANK2 C>T	4	114176897	114176897	C	T	ANK2	c.997C>T	NM_001148.4	NP_001139.3:p.(Leu333=)	NC_000004.11:g.114176897C>T	(Likely) benign	1 lab	8993de8876
22:45599053 KIAA0930 C>T	22	45599053	45599053	C	T	KIAA0930	c.685G>A	NM_015264.1	NP_056079.1:p.(Ala229Thr)	NC_000022.10:g.45599053C>T	(Likely) benign	1 lab	8994555746
17:7604792 WRAP53 C>T	17	7604792	7604792	C	T	WRAP53	c.747C>T	NM_018081.2	NP_060551.2:p.(Ser249=)	NC_000017.10:g.7604792C>T	(Likely) benign	1 lab	89946b171d
2:179413092 TTN A>G	2	179413092	179413092	A	G	TTN	c.93261T>C	NM_001267550.1	NP_001254479.1:p.(Tyr31087=)	NC_000002.11:g.179413092A>G	(Likely) benign	1 lab	899558d6c7
6:33384459 CUTA ACT>A	6	33384459	33384463	ACT	A	CUTA	c.506_507del	NM_001014840.2	NP_001014840.1:p.(Glu169ValfsTer4)	NC_000006.11:g.33384462_33384463del	VUS	1 lab	89960679a3
X:32867937 DMD A>G	X	32867937	32867937	A	G	DMD	c.70T>C	NM_000109.3	NP_000100.2:p.(Phe24Leu)	NC_000023.10:g.32867937A>G	(Likely) benign	1 lab	899a182269
X:133988125 PABIR3 C>T	X	133988125	133988125	C	T	PABIR3	c.443C>T	NM_138819.3	NP_620174.1:p.(Thr148Ile)	NC_000023.10:g.133988125C>T	(Likely) benign	1 lab	899a18328d
4:126373017 FAT4 A>G	4	126373017	126373017	A	G	FAT4	c.10852A>G	NM_001291303.1	NP_001278232.1:p.(Thr3618Ala)	NC_000004.11:g.126373017A>G	VUS	1 lab	899a25021e
8:87641225 CNGB3 T>G	8	87641225	87641225	T	G	CNGB3	c.1402A>C	NM_019098.4	NP_061971.3:p.(Asn468His)	NC_000008.10:g.87641225T>G	VUS	1 lab	899cbc2499
X:73641760 SLC16A2 AG>A	X	73641760	73641762	AG	A	SLC16A2	c.290del	NM_006517.5	NP_006508.2:p.(Gly97ValfsTer33)	NC_000023.10:g.73641762del	(Likely) pathogenic	1 lab	899cbc3b02
5:90368344 ADGRV1 T>C	5	90368344	90368344	T	C	ADGRV1	c.18233T>C	NM_032119.4	NP_115495.3:p.(Val6078Ala)	NC_000005.9:g.90368344T>C	VUS	1 lab	899e0bb12f
6:65016976 EYS CTG>C	6	65016976	65016978	CTG	C	EYS	c.6079-3_6079-2del	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65016977_65016978del	(Likely) pathogenic	1 lab	89a1d7cd1a
4:94436461 GRID2 C>T	4	94436461	94436461	C	T	GRID2	c.2092C>T	NM_001510.3	NP_001501.2:p.(Pro698Ser)	NC_000004.11:g.94436461C>T	VUS	1 lab	89a2067050
22:42172128 MEI1 T>A	22	42172128	42172128	T	A	MEI1	c.2567T>A	NM_152513.4	NP_689726.3:p.(Val856Glu)	NC_000022.10:g.42172128T>A	VUS	1 lab	fc1b3d5717
14:68219078 ZFYVE26 T>C	14	68219078	68219078	T	C	ZFYVE26	c.7354A>G	NM_015346.3	NP_056161.2:p.(Lys2452Glu)	NC_000014.8:g.68219078T>C	(Likely) benign	1 lab	89a33d3ebd
X:49082494 CACNA1F G>A	X	49082494	49082494	G	A	CACNA1F	c.1561C>T	NM_005183.3	NP_005174.2:p.(Arg521Cys)	NC_000023.10:g.49082494G>A	VUS	1 lab	89a36c3f1d
20:33589801 MYH7B G>C	20	33589801	33589801	G	C	MYH7B	c.5853G>C	NM_020884.4	NP_065935.3:p.(Glu1951Asp)	NC_000020.10:g.33589801G>C	VUS	1 lab	89a3a2f562
11:17629951 OTOG A>T	11	17629951	17629951	A	T	OTOG	c.4301A>T	NM_001277269.1	NP_001264198.1:p.(Asp1434Val)	NC_000011.9:g.17629951A>T	VUS	1 lab	89a450f0c9
X:130409492 IGSF1 G>C	X	130409492	130409492	G	C	IGSF1	c.3159C>G	NM_001170961.1	NP_001164432.1:p.(Ile1053Met)	NC_000023.10:g.130409492G>C	VUS	1 lab	89a4bc5848
7:82581768 PCLO G>A	7	82581768	82581768	G	A	PCLO	c.8501C>T	NM_033026.5	NP_149015.2:p.(Pro2834Leu)	NC_000007.13:g.82581768G>A	(Likely) benign	1 lab	89a6d72809
1:66067583 LEPR G>C	1	66067583	66067583	G	C	LEPR	c.1343G>C	NM_002303.6	NP_002294.2:p.(Arg448Thr)	NC_000001.10:g.66067583G>C	VUS	1 lab	fdbd28c144
X:68060336 EFNB1 A>G	X	68060336	68060336	A	G	EFNB1	c.880A>G	NM_004429.4	NP_004420.1:p.(Thr294Ala)	NC_000023.10:g.68060336A>G	(Likely) benign	1 lab	89a71036df
5:138665065 MATR3 G>C	5	138665065	138665065	G	C	MATR3	c.2525G>C	NM_199189.2	NP_954659.1:p.(Arg842Thr)	NC_000005.9:g.138665065G>C	VUS	1 lab	89a7542c90
19:581411 BSG G>A	19	581411	581411	G	A	BSG	c.889G>A	NM_001728.3	NP_001719.2:p.(Gly297Ser)	NC_000019.9:g.581411G>A	VUS	1 lab	89a81cf6a3
16:30846276 BCL7C C>T	16	30846276	30846276	C	T	BCL7C	c.722G>A	NM_001286526.1	NP_001273455.1:p.(Gly241Glu)	NC_000016.9:g.30846276C>T	(Likely) benign	1 lab	89a94be39f
5:131940620 RAD50 C>T	5	131940620	131940620	C	T	RAD50	c.2647C>T	NM_005732.3	NP_005723.2:p.(Arg883Cys)	NC_000005.9:g.131940620C>T	VUS	1 lab	89a9a88a48
15:68500582 CLN6 C>T	15	68500582	68500582	C	T	CLN6	c.832G>A	NM_017882.2	NP_060352.1:p.(Ala278Thr)	NC_000015.9:g.68500582C>T	VUS	1 lab	89aa4a2ee3
20:35533837 SAMHD1 T>G	20	35533837	35533837	T	G	SAMHD1	c.1340A>C	NM_015474.3	NP_056289.2:p.(Gln447Pro)	NC_000020.10:g.35533837T>G	(Likely) benign	1 lab	89ab2fbeb0
1:207643192 CR2 C>T	1	207643192	207643192	C	T	CR2	c.970C>T	NM_001006658.2	NP_001006659.1:p.(Arg324Cys)	NC_000001.10:g.207643192C>T	VUS	1 lab	89abfb97df
X:53272626 IQSEC2 C>T	X	53272626	53272626	C	T	IQSEC2	c.2777G>A	NM_001111125.3	NP_001104595.1:p.(Arg926Gln)	NC_000023.10:g.53272626C>T	VUS	1 lab	fc1ff66875
2:166930109 SCN1A G>A	2	166930109	166930109	G	A	SCN1A	c.23C>T	NM_001165963.4	NP_001159435.1:p.(Pro8Leu)	NC_000002.11:g.166930109G>A	VUS	1 lab	fc20ad7560
19:36497501 SYNE4 C>T	19	36497501	36497501	C	T	SYNE4	c.691G>A	NM_001039876.2	NP_001034965.1:p.(Gly231Arg)	NC_000019.9:g.36497501C>T	VUS	1 lab	89b06744ab
4:121738064 PRDM5 T>A	4	121738064	121738064	T	A	PRDM5	c.666A>T	NM_018699.3	NP_061169.2:p.(Thr222=)	NC_000004.11:g.121738064T>A	(Likely) benign	1 lab	89b3ffeffa
6:35911696 SLC26A8 T>C	6	35911696	35911696	T	C	SLC26A8	c.2894A>G	NM_052961.3	NP_443193.1:p.(Asn965Ser)	NC_000006.11:g.35911696T>C	(Likely) benign	1 lab	89b41b024b
15:89755056 RLBP1 A>G	15	89755056	89755056	A	G	RLBP1	c.602T>C	NM_000326.4	NP_000317.1:p.(Ile201Thr)	NC_000015.9:g.89755056A>G	(Likely) pathogenic	1 lab	89b59d6c85
17:1630130 WDR81 C>T	17	1630130	1630130	C	T	WDR81	c.1877C>T	NM_001163809.1	NP_001157281.1:p.(Pro626Leu)	NC_000017.10:g.1630130C>T	(Likely) benign	1 lab	89b5b8ed88
2:44201046 LRPPRC GAA>G	2	44201046	44201052	GAA	G	LRPPRC	c.1156-9_1156-8del	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44201051_44201052del	(Likely) benign	1 lab	89b6ec8ebf
11:31625355 ELP4 A>T	11	31625355	31625355	A	T	ELP4	c.554A>T	NM_001288726.1	NP_001275655.1:p.(Asp185Val)	NC_000011.9:g.31625355A>T	(Likely) benign	1 lab	89b73322a3
19:9020071 MUC16 C>T	19	9020071	9020071	C	T	MUC16	c.37424G>A	NM_024690.2	NP_078966.2:p.(Arg12475Gln)	NC_000019.9:g.9020071C>T	(Likely) benign	1 lab	89b771a37d
15:22940808 CYFIP1 G>A	15	22940808	22940808	G	A	CYFIP1	c.1073G>A	NM_001324120.2	NP_001311049.1:p.(Arg358His)	NC_000015.9:g.22940808G>A	VUS	1 lab	89b844c062
2:179398383 TTN A>T	2	179398383	179398383	A	T	TTN	c.102959T>A	NM_001267550.1	NP_001254479.1:p.(Ile34320Asn)	NC_000002.11:g.179398383A>T	VUS	1 lab	89b9648d3e
13:20716345 GJA3 T>G	13	20716345	20716345	T	G	GJA3	c.1083A>C	NM_021954.3	NP_068773.2:p.(Pro361=)	NC_000013.10:g.20716345T>G	(Likely) benign	1 lab	89ba33eefc
15:23889727 MAGEL2 T>G	15	23889727	23889727	T	G	MAGEL2	c.3163A>C	NM_019066.4	NP_061939.3:p.(Lys1055Gln)	NC_000015.9:g.23889727T>G	VUS	1 lab	89ba6e9af3
14:70480144 SMOC1 C>T	14	70480144	70480144	C	T	SMOC1	c.982C>T	NM_001034852.2	NP_001030024.1:p.(Leu328=)	NC_000014.8:g.70480144C>T	(Likely) benign	1 lab	89bb6e5ca7
15:71952908 THSD4 G>A	15	71952908	71952908	G	A	THSD4	c.1192G>A	NM_024817.2	NP_079093.2:p.(Val398Met)	NC_000015.9:g.71952908G>A	(Likely) benign	1 lab	89bc77ea69
X:128722887 OCRL A>AAGC	X	128722887	128722891	A	AAGC	OCRL	c.2368_2370dup	NM_000276.3	NP_000267.2:p.(Ala790dup)	NC_000023.10:g.128722889_128722891dup	VUS	1 lab	89bd9ad22e
5:138253502 CTNNA1 T>C	5	138253502	138253502	T	C	CTNNA1	c.1461T>C	NM_001323982.1	NP_001310911.1:p.(Phe487=)	NC_000005.9:g.138253502T>C	(Likely) benign	1 lab	89c04878fd
17:29554545 NF1 G>A	17	29554545	29554545	G	A	NF1	c.2330G>A	NM_000267.3	NP_000258.1:p.(Trp777Ter)	NC_000017.10:g.29554545G>A	(Likely) pathogenic	1 lab	89c170783d
11:58892291 FAM111B A>C	11	58892291	58892291	A	C	FAM111B	c.721A>C	NM_198947.3	NP_945185.1:p.(Lys241Gln)	NC_000011.9:g.58892291A>C	(Likely) benign	1 lab	89c37dcf3b
11:67811604 TCIRG1 C>T	11	67811604	67811604	C	T	TCIRG1				NC_000011.9:g.67811604C>T	(Likely) benign	1 lab	89c840766a
14:51245474 NIN G>A	14	51245474	51245474	G	A	NIN	c.475+9C>T	NM_020921.3	NP_065972.3:p.?	NC_000014.8:g.51245474G>A	(Likely) benign	1 lab	89cafc95ef
6:108385411 OSTM1 T>C	6	108385411	108385411	T	C	OSTM1	c.495A>G	NM_014028.3	NP_054747.2:p.(Thr165=)	NC_000006.11:g.108385411T>C	(Likely) benign	1 lab	89cbb1c3a3
21:45750339 CFAP410 G>A	21	45750339	45750339	G	A	CFAP410	c.999+7C>T	NM_001271441.1	NP_001258370.1:p.?	NC_000021.8:g.45750339G>A	(Likely) benign	1 lab	89ce7cb6bb
12:39724052 KIF21A A>G	12	39724052	39724052	A	G	KIF21A	c.3332T>C	NM_001173464.1	NP_001166935.1:p.(Val1111Ala)	NC_000012.11:g.39724052A>G	(Likely) benign	1 lab	89ceb02afd
7:103038403 SLC26A5 T>C	7	103038403	103038403	T	C	SLC26A5	c.947A>G	NM_198999.2	NP_945350.1:p.(Asp316Gly)	NC_000007.13:g.103038403T>C	VUS	1 lab	89d0e76b15
9:15474104 PSIP1 T>C	9	15474104	15474104	T	C	PSIP1	c.761A>G	NM_001128217.2	NP_001121689.1:p.(Lys254Arg)	NC_000009.11:g.15474104T>C	VUS	1 lab	89d1057e8e
4:79353651 FRAS1 TCC>T	4	79353651	79353654	TCC	T	FRAS1	c.5112_5113del	NM_025074.7	NP_079350.5:p.(Leu1705ValfsTer21)	NC_000004.11:g.79353653_79353654del	(Likely) pathogenic	1 lab	89d1cfc32b
5:92929290 NR2F1 G>A	5	92929290	92929290	G	A	NR2F1	c.1014G>A	NM_005654.5	NP_005645.1:p.(Ala338=)	NC_000005.9:g.92929290G>A	(Likely) benign	1 lab	89d3a151b2
8:126044618 WASHC5 G>A	8	126044618	126044618	G	A	WASHC5	c.3200C>T	NM_014846.3	NP_055661.3:p.(Pro1067Leu)	NC_000008.10:g.126044618G>A	VUS	1 lab	89d53c0538
11:93528192 MED17 G>C	11	93528192	93528192	G	C	MED17	c.978G>C	NM_004268.4	NP_004259.3:p.(Val326=)	NC_000011.9:g.93528192G>C	(Likely) benign	1 lab	89d5c1c205
3:124210221 KALRN G>A	3	124210221	124210221	G	A	KALRN	c.4633G>A	NM_001024660.4	NP_001019831.2:p.(Ala1545Thr)	NC_000003.11:g.124210221G>A	VUS	1 lab	89d82d7235
X:63410160 AMER1 T>C	X	63410160	63410160	T	C	AMER1	c.3007A>G	NM_152424.4	NP_689637.3:p.(Ile1003Val)	NC_000023.10:g.63410160T>C	VUS	1 lab	89d846db5f
17:40688498 NAGLU G>GGCGGCGCGGCGCGCGTGCGGGTGC	17	40688498	40688527	G	GGCGGCGCGGCGCGCGTGCGGGTGC	NAGLU	c.214_237dup	NM_000263.3	NP_000254.2:p.(Ala72_Gly79dup)	NC_000017.10:g.40688504_40688527dup	(Likely) pathogenic	1 lab	89d9c2729f
X:68060088 EFNB1 CTG>C	X	68060088	68060092	CTG	C	EFNB1	c.635_636del	NM_004429.5	NP_004420.1:p.(Val212GlufsTer19)	NC_000023.10:g.68060091_68060092del	(Likely) pathogenic	1 lab	89d9ce3602
4:120192753 USP53 C>T	4	120192753	120192753	C	T	USP53	c.1738C>T	NM_019050.2	NP_061923.2:p.(Arg580Trp)	NC_000004.11:g.120192753C>T	VUS	1 lab	89da2a8cfc
19:49469900 FTL G>A	19	49469900	49469900	G	A	FTL	c.436G>A	NM_000146.3	NP_000137.2:p.(Gly146Ser)	NC_000019.9:g.49469900G>A	VUS	1 lab	89db013ed5
2:189864040 COL3A1 A>G	2	189864040	189864040	A	G	COL3A1	c.2052A>G	NM_000090.3	NP_000081.1:p.(Gly684=)	NC_000002.11:g.189864040A>G	(Likely) benign	1 lab	89dc340bc7
19:36211624 KMT2B C>T	19	36211624	36211624	C	T	KMT2B	c.1375C>T	NM_014727.3	NP_055542.1:p.(Pro459Ser)	NC_000019.9:g.36211624C>T	(Likely) benign	1 lab	fc21f08f49
1:11264764 MTOR T>C	1	11264764	11264764	T	C	MTOR	c.3802-4A>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11264764T>C	(Likely) benign	1 lab	89dde12608
X:110951412 ALG13 A>G	X	110951412	110951412	A	G	ALG13	c.307A>G	NM_001257231.1	NP_001244160.1:p.(Thr103Ala)	NC_000023.10:g.110951412A>G	(Likely) benign	1 lab	89de0f9e68
X:101970954 GPRASP2 T>C	X	101970954	101970954	T	C	GPRASP2	c.1157T>C	NM_001184874.2	NP_001171803.1:p.(Ile386Thr)	NC_000023.10:g.101970954T>C	VUS	1 lab	89e135a491
5:167625990 TENM2 C>T	5	167625990	167625990	C	T	TENM2	c.3006C>T	NM_001122679.1	NP_001116151.1:p.(Thr1002=)	NC_000005.9:g.167625990C>T	(Likely) benign	1 lab	89e2a86470
19:36224505 KMT2B C>T	19	36224505	36224505	C	T	KMT2B	c.6967C>T	NM_014727.3	NP_055542.1:p.(Arg2323Cys)	NC_000019.9:g.36224505C>T	VUS	1 lab	fc24649beb
19:13409525 CACNA1A C>G	19	13409525	13409525	C	G	CACNA1A	c.2934G>C	NM_023035.2	NP_075461.2:p.(Glu978Asp)	NC_000019.9:g.13409525C>G	(Likely) benign	1 lab	89e566308b
4:126239373 FAT4 T>A	4	126239373	126239373	T	A	FAT4	c.1807T>A	NM_024582.4	NP_078858.4:p.(Leu603Met)	NC_000004.11:g.126239373T>A	VUS	1 lab	89e72f6bd4
6:152762383 SYNE1 C>T	6	152762383	152762383	C	T	SYNE1	c.4031G>A	NM_182961.3	NP_892006.3:p.(Arg1344Gln)	NC_000006.11:g.152762383C>T	(Likely) benign	1 lab	89e95e169c
4:187122318 CYP4V2 CT>C	4	187122318	187122319	CT	C	CYP4V2	c.810del	NM_207352.4	NP_997235.3:p.(Glu271AsnfsTer6)	NC_000004.11:g.187122319del	(Likely) pathogenic	1 lab	89e98021bb
14:102476723 DYNC1H1 T>TA	14	102476723	102476726	T	TA	DYNC1H1	c.6335dup	NM_001376.4	NP_001367.2:p.(Arg2113GlufsTer11)	NC_000014.8:g.102476726dup	VUS	1 lab	89ee902200
1:16475173 EPHA2 G>A	1	16475173	16475173	G	A	EPHA2	c.523C>T	NM_004431.4	NP_004422.2:p.(Arg175Cys)	NC_000001.10:g.16475173G>A	VUS	1 lab	89f1d140f7
11:2593280 KCNQ1 G>A	11	2593280	2593280	G	A	KCNQ1	c.721G>A	NM_000218.2	NP_000209.2:p.(Val241Ile)	NC_000011.9:g.2593280G>A	VUS	1 lab	89f21ea273
19:11319662 DOCK6 C>T	19	11319662	11319662	C	T	DOCK6	c.4869G>A	NM_020812.3	NP_065863.2:p.(Ala1623=)	NC_000019.9:g.11319662C>T	(Likely) benign	1 lab	89f2ec699b
X:123657429 TENM1 C>T	X	123657429	123657429	C	T	TENM1	c.2818G>A	NM_001163278.1	NP_001156750.1:p.(Asp940Asn)	NC_000023.10:g.123657429C>T	(Likely) benign	1 lab	89f64723ed
10:14977469 DCLRE1C C>A	10	14977469	14977469	C	A	DCLRE1C	c.97G>T	NM_001289079.1	NP_001276008.1:p.(Gly33Trp)	NC_000010.10:g.14977469C>A	VUS	1 lab	89f6b9b9e8
4:2242673 HAUS3 T>C	4	2242673	2242673	T	C	HAUS3	c.1A>G	NM_024511.6	NP_078787.2:p.(Met1?)	NC_000004.11:g.2242673T>C	VUS	1 lab	89f966c3db
1:9323657 H6PD G>A	1	9323657	9323657	G	A	H6PD	c.1105G>A	NM_004285.3	NP_004276.2:p.(Ala369Thr)	NC_000001.10:g.9323657G>A	VUS	1 lab	89f9d1232c
11:46726661 ZNF408 C>A	11	46726661	46726661	C	A	ZNF408	c.1411C>A	NM_024741.2	NP_079017.1:p.(Pro471Thr)	NC_000011.9:g.46726661C>A	VUS	1 lab	89fa6aa5e2
20:60866804 OSBPL2 A>C	20	60866804	60866804	A	C	OSBPL2	c.1295A>C	NM_144498.2	NP_653081.1:p.(Glu432Ala)	NC_000020.10:g.60866804A>C	(Likely) benign	1 lab	89fa9cfea9
1:201328779 TNNT2 G>A	1	201328779	201328779	G	A	TNNT2	c.793C>T	NM_001276347.1	NP_001263276.1:p.(Arg265Ter)	NC_000001.10:g.201328779G>A	VUS	1 lab	89fb1b6b77
17:7917317 GUCY2D C>T	17	7917317	7917317	C	T	GUCY2D	c.2383C>T	NM_000180.3	NP_000171.1:p.(Arg795Trp)	NC_000017.10:g.7917317C>T	VUS	1 lab	89fbffc5c7
X:117033083 KLHL13 C>T	X	117033083	117033083	C	T	KLHL13	c.1756G>A	NM_033495.3	NP_277030.2:p.(Glu586Lys)	NC_000023.10:g.117033083C>T	(Likely) benign	1 lab	89fd2b9485
20:47558490 ARFGEF2 CAAGGGTA>AAAGGTT	20	47558490	47558497	CAAGGGTA	AAAGGTT	ARFGEF2	c.242_249delinsAAAGGTT	NM_006420.2	NP_006411.2:p.(Pro81GlnfsTer34)	NC_000020.10:g.47558490_47558497delinsAAAGGTT	(Likely) pathogenic	1 lab	89ff2490c1
11:9225808 DENND5A T>C	11	9225808	9225808	T	C	DENND5A	c.348A>G	NM_015213.3	NP_056028.2:p.(Gln116=)	NC_000011.9:g.9225808T>C	(Likely) benign	1 lab	89ff78da48
22:30038233 NF2 G>T	22	30038233	30038233	G	T	NF2	c.406G>T	NM_000268.3	NP_000259.1:p.(Glu136Ter)	NC_000022.10:g.30038233G>T	(Likely) pathogenic	1 lab	89ff84e15e
17:76487521 DNAH17 G>A	17	76487521	76487521	G	A	DNAH17	c.6669+4C>T	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76487521G>A	(Likely) benign	1 lab	8a000ecf3a
5:41172397 C6 G>A	5	41172397	41172397	G	A	C6	c.1221C>T	NM_001115131.2	NP_001108603.2:p.(Arg407=)	NC_000005.9:g.41172397G>A	(Likely) benign	1 lab	8a00354cdc
12:32875481 DNM1L T>C	12	32875481	32875481	T	C	DNM1L	c.1032T>C	NM_001278464.1	NP_001265393.1:p.(Ala344=)	NC_000012.11:g.32875481T>C	(Likely) benign	1 lab	8a02248b3e
14:21796793 RPGRIP1 C>T	14	21796793	21796793	C	T	RPGRIP1	c.3099+7C>T	NM_020366.3	NP_065099.3:p.?	NC_000014.8:g.21796793C>T	(Likely) benign	1 lab	8a056415fa
8:101059715 RGS22 G>A	8	101059715	101059715	G	A	RGS22	c.1799C>T	NM_015668.5	NP_056483.3:p.(Ser600Phe)	NC_000008.10:g.101059715G>A	(Likely) benign	1 lab	8a05916f02
13:23908453 SACS A>G	13	23908453	23908453	A	G	SACS	c.9562T>C	NM_014363.5	NP_055178.3:p.(Phe3188Leu)	NC_000013.10:g.23908453A>G	VUS	1 lab	8a05bebbce
5:67575425 PIK3R1 C>T	5	67575425	67575425	C	T	PIK3R1	c.503-5C>T	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67575425C>T	(Likely) benign	1 lab	8a08186865
8:48777112 PRKDC G>A	8	48777112	48777112	G	A	PRKDC	c.5571+5C>T	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48777112G>A	(Likely) benign	1 lab	8a08375c32
17:25630590 WSB1 T>G	17	25630590	25630590	T	G	WSB1	c.407T>G	NM_015626.10	NP_056441.6:p.(Phe136Cys)	NC_000017.10:g.25630590T>G	VUS	1 lab	8a083da06b
17:44101601 MAPT GAAT>G	17	44101601	44101607	GAAT	G	MAPT	c.*68_*70del	NM_001377265.1	NP_001364194.1:p.?	NC_000017.10:g.44101605_44101607del	VUS	1 lab	8a09801378
15:65748560 DPP8 C>T	15	65748560	65748560	C	T	DPP8	c.2166+3G>A	NM_001320875.1	NP_001307804.1:p.?	NC_000015.9:g.65748560C>T	(Likely) benign	1 lab	8a0a587e17
22:50660298 TUBGCP6 C>G	22	50660298	50660298	C	G	TUBGCP6	c.2490G>C	NM_020461.3	NP_065194.2:p.(Thr830=)	NC_000022.10:g.50660298C>G	(Likely) benign	1 lab	8a0cd8be0a
12:119957976 CCDC60 T>C	12	119957976	119957976	T	C	CCDC60	c.1019T>C	NM_178499.5	NP_848594.2:p.(Met340Thr)	NC_000012.11:g.119957976T>C	(Likely) benign	1 lab	8a0ddba7ad
15:82443968 EFL1 A>G	15	82443968	82443968	A	G	EFL1	c.2827T>C	NM_001322845.1	NP_001309774.1:p.(Ser943Pro)	NC_000015.9:g.82443968A>G	VUS	1 lab	8a0ed92714
3:4829711 ITPR1 A>G	3	4829711	4829711	A	G	ITPR1	c.6552A>G	NM_001099952.2	NP_001093422.2:p.(Lys2184=)	NC_000003.11:g.4829711A>G	(Likely) benign	1 lab	8a0f98f4d7
2:238261167 COL6A3 G>A	2	238261167	238261167	G	A	COL6A3	c.6751C>T	NM_004369.3	NP_004360.2:p.(Arg2251Trp)	NC_000002.11:g.238261167G>A	VUS	1 lab	8a0fb32722
11:22276947 ANO5 G>A	11	22276947	22276947	G	A	ANO5	c.1211G>A	NM_213599.3	NP_998764.1:p.(Arg404Gln)	NC_000011.9:g.22276947G>A	VUS	1 lab	fc25af0f63
19:49013786 LMTK3 G>A	19	49013786	49013786	G	A	LMTK3	c.227C>T	NM_001080434.1	NP_001073903.1:p.(Ser76Phe)	NC_000019.9:g.49013786G>A	VUS	1 lab	8a118fcc55
X:77245421 ATP7A A>G	X	77245421	77245421	A	G	ATP7A	c.1303A>G	NM_000052.6	NP_000043.4:p.(Ile435Val)	NC_000023.10:g.77245421A>G	VUS	1 lab	8a1387c93a
7:6693259 ZNF316 G>C	7	6693259	6693259	G	C	ZNF316	c.2032G>C	NM_001278559.2	NP_001265488.1:p.(Glu678Gln)	NC_000007.13:g.6693259G>C	VUS	1 lab	8a13c1ff60
19:54394921 PRKCG C>T	19	54394921	54394921	C	T	PRKCG	c.530-7C>T	NM_002739.3	NP_002730.1:p.?	NC_000019.9:g.54394921C>T	(Likely) benign	1 lab	8a14e7309f
18:7050788 LAMA1 T>C	18	7050788	7050788	T	C	LAMA1	c.493A>G	NM_005559.3	NP_005550.2:p.(Ile165Val)	NC_000018.9:g.7050788T>C	VUS	1 lab	8a157c6e24
2:179517953 TTN A>G	2	179517953	179517953	A	G	TTN	c.38791+12T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517953A>G	(Likely) benign	1 lab	8a161e60fb
16:89351202 ANKRD11 C>G	16	89351202	89351202	C	G	ANKRD11	c.1748G>C	NM_001256182.1	NP_001243111.1:p.(Gly583Ala)	NC_000016.9:g.89351202C>G	(Likely) benign	1 lab	8a16edc48f
14:105415835 AHNAK2 CT>C	14	105415835	105415838	CT	C	AHNAK2	c.5952del	NM_138420.4	NP_612429.2:p.(Asp1985ThrfsTer38)	NC_000014.8:g.105415838del	VUS	1 lab	8a19740e66
14:102449963 DYNC1H1 A>G	14	102449963	102449963	A	G	DYNC1H1	c.1461+17A>G	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102449963A>G	(Likely) benign	1 lab	8a1ad19731
12:88512304 CEP290 A>AT	12	88512304	88512314	A	AT	CEP290	c.1666dup	NM_025114.3	NP_079390.3:p.(Ile556AsnfsTer20)	NC_000012.11:g.88512314dup	(Likely) pathogenic	1 lab	8a1eee5142
1:216420226 USH2A C>T	1	216420226	216420226	C	T	USH2A	c.2510G>A	NM_206933.2	NP_996816.2:p.(Arg837Gln)	NC_000001.10:g.216420226C>T	(Likely) benign	1 lab	8a206e4e9c
X:47102117 USP11 C>T	X	47102117	47102117	C	T	USP11	c.1710C>T	NM_004651.3	NP_004642.2:p.(Phe570=)	NC_000023.10:g.47102117C>T	VUS	1 lab	8a20a3164a
2:160604977 MARCHF7 T>C	2	160604977	160604977	T	C	MARCHF7	c.1176T>C	NM_001282805.2	NP_001269734.1:p.(Asn392=)	NC_000002.11:g.160604977T>C	(Likely) benign	1 lab	8a20d55b58
19:18184375 IL12RB1 C>T	19	18184375	18184375	C	T	IL12RB1	c.855G>A	NM_001290024.1	NP_001276953.1:p.(Val285=)	NC_000019.9:g.18184375C>T	(Likely) benign	1 lab	8a221b2611
7:90338857 CDK14 T>C	7	90338857	90338857	T	C	CDK14	c.2T>C	NM_012395.3	NP_036527.1:p.(Met1?)	NC_000007.13:g.90338857T>C	VUS	1 lab	8a243b261a
X:129265750 AIFM1 G>A	X	129265750	129265750	G	A	AIFM1	c.1473C>T	NM_004208.3	NP_004199.1:p.(Gly491=)	NC_000023.10:g.129265750G>A	(Likely) benign	1 lab	8a2490db07
13:32936763 BRCA2 GCCTTT>G	13	32936763	32936771	GCCTTT	G	BRCA2	c.7913_7917del	NM_000059.4	NP_000050.3:p.(Phe2638Ter)	NC_000013.10:g.32936767_32936771del	(Likely) pathogenic	1 lab	fc26d638fe
X:100808011 ARMCX1 A>G	X	100808011	100808011	A	G	ARMCX1	c.98A>G	NM_016608.1	NP_057692.1:p.(Glu33Gly)	NC_000023.10:g.100808011A>G	(Likely) benign	1 lab	8a28f756f3
8:6302391 MCPH1 C>G	8	6302391	6302391	C	G	MCPH1	c.1148C>G	NM_024596.4	NP_078872.2:p.(Pro383Arg)	NC_000008.10:g.6302391C>G	(Likely) benign	1 lab	8a29556e1e
21:38309616 HLCS C>CTCAA	21	38309616	38309617	C	CTCAA	HLCS	c.128_129insTTGA	NM_001242784.2	NP_001229713.1:p.(Lys44Ter)	NC_000021.8:g.38309616_38309617insTCAA	(Likely) pathogenic	1 lab	8a2a6378ca
X:48372676 PORCN T>C	X	48372676	48372676	T	C	PORCN	c.522T>C	NM_001282167.1	NP_001269096.1:p.(Tyr174=)	NC_000023.10:g.48372676T>C	(Likely) benign	1 lab	8a2ad9b134
19:10477245 TYK2 C>T	19	10477245	10477245	C	T	TYK2	c.477G>A	NM_003331.4	NP_003322.3:p.(Glu159=)	NC_000019.9:g.10477245C>T	(Likely) benign	1 lab	8a2bba7817
X:110644350 DCX AG>A	X	110644350	110644352	AG	A	DCX	c.572del	NM_001195553.2	NP_001182482.1:p.(Pro191LeufsTer9)	NC_000023.10:g.110644352del	(Likely) pathogenic	1 lab	8a2cb9b53f
10:26462782 MYO3A G>A	10	26462782	26462782	G	A	MYO3A	c.3589G>A	NM_017433.5	NP_059129.3:p.(Glu1197Lys)	NC_000010.10:g.26462782G>A	(Likely) benign	1 lab	8a2ea58a76
2:220283167 DES C>T	2	220283167	220283167	C	T	DES	c.-18C>T	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220283167C>T	VUS	1 lab	8a3010a313
9:135797244 TSC1 TA>T	9	135797244	135797245	TA	T	TSC1	c.624del	NM_000368.5	NP_000359.1:p.(Ser208ArgfsTer2)	NC_000009.11:g.135797245del	(Likely) pathogenic	1 lab	8a32d3f704
16:3823806 CREBBP G>A	16	3823806	3823806	G	A	CREBBP	c.2409C>T	NM_004380.2	NP_004371.2:p.(Ser803=)	NC_000016.9:g.3823806G>A	(Likely) benign	1 lab	8a331001d4
1:159778014 FCRL6 T>C	1	159778014	159778014	T	C	FCRL6	c.120T>C	NM_001284217.1	NP_001271146.1:p.(Asp40=)	NC_000001.10:g.159778014T>C	(Likely) benign	1 lab	8a3442692e
14:68256218 ZFYVE26 C>T	14	68256218	68256218	C	T	ZFYVE26	c.2853G>A	NM_015346.3	NP_056161.2:p.(Thr951=)	NC_000014.8:g.68256218C>T	(Likely) benign	1 lab	8a3564de0e
2:227872932 COL4A4 G>A	2	227872932	227872932	G	A	COL4A4	c.4611C>T	NM_000092.4	NP_000083.3:p.(Asn1537=)	NC_000002.11:g.227872932G>A	(Likely) benign	1 lab	8a3621c6a7
10:98002550 BLNK A>G	10	98002550	98002550	A	G	BLNK	c.114-10T>C	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.98002550A>G	(Likely) benign	1 lab	8a38f2c6fc
9:126125203 CRB2 G>A	9	126125203	126125203	G	A	CRB2	c.154G>A	NM_173689.6	NP_775960.4:p.(Glu52Lys)	NC_000009.11:g.126125203G>A	(Likely) benign	1 lab	8a39cae6cf
20:48156147 PTGIS G>A	20	48156147	48156147	G	A	PTGIS	c.633C>T	NM_000961.3	NP_000952.1:p.(Asp211=)	NC_000020.10:g.48156147G>A	(Likely) benign	1 lab	8a3daa2671
19:9071043 MUC16 G>A	19	9071043	9071043	G	A	MUC16	c.16403C>T	NM_024690.2	NP_078966.2:p.(Thr5468Ile)	NC_000019.9:g.9071043G>A	VUS	1 lab	8a413dea51
X:65423389 HEPH G>A	X	65423389	65423389	G	A	HEPH				NC_000023.10:g.65423389G>A	(Likely) benign	1 lab	8a42473fb2
11:124756657 ROBO4 C>T	11	124756657	124756657	C	T	ROBO4	c.2497G>A	NM_019055.5	NP_061928.4:p.(Val833Ile)	NC_000011.9:g.124756657C>T	(Likely) benign	1 lab	8a42c09eec
X:53432045 SMC1A G>A	X	53432045	53432045	G	A	SMC1A	c.2095C>T	NM_006306.4	NP_006297.2:p.(Arg699Cys)	NC_000023.10:g.53432045G>A	(Likely) pathogenic	1 lab	fc2e6224d6
5:112176210 APC G>A	5	112176210	112176210	G	A	APC				NC_000005.9:g.112176210G>A	VUS	1 lab	8a484ea279
9:139400271 NOTCH1 G>A	9	139400271	139400271	G	A	NOTCH1	c.4077C>T	NM_017617.5	NP_060087.3:p.(Asn1359=)	NC_000009.11:g.139400271G>A	(Likely) benign	1 lab	8a4889a2c5
20:23029581 THBD G>T	20	23029581	23029581	G	T	THBD	c.561C>A	NM_000361.2	NP_000352.1:p.(Ala187=)	NC_000020.10:g.23029581G>T	(Likely) benign	1 lab	8a48a3bcb0
X:150840128 PASD1 C>T	X	150840128	150840128	C	T	PASD1	c.1314C>T	NM_173493.2	NP_775764.2:p.(His438=)	NC_000023.10:g.150840128C>T	(Likely) benign	1 lab	8a490ed9a9
8:145583719 SLC52A2 G>A	8	145583719	145583719	G	A	SLC52A2	c.567G>A	NM_001363118.1	NP_001350047.1:p.(Glu189=)	NC_000008.10:g.145583719G>A	(Likely) benign	1 lab	8a49519511
19:50412270 NUP62 G>A	19	50412270	50412270	G	A	NUP62	c.795C>T	NM_016553.4	NP_057637.2:p.(Ser265=)	NC_000019.9:g.50412270G>A	(Likely) benign	1 lab	8a498fe3d9
22:45923855 FBLN1 C>T	22	45923855	45923855	C	T	FBLN1	c.450C>T	NM_006486.2	NP_006477.2:p.(Thr150=)	NC_000022.10:g.45923855C>T	(Likely) benign	1 lab	8a4ab611ca
6:158502509 SYNJ2 G>A	6	158502509	158502509	G	A	SYNJ2	c.2832G>A	NM_003898.3	NP_003889.1:p.(Ser944=)	NC_000006.11:g.158502509G>A	(Likely) benign	1 lab	8a4b38f108
X:38037587 SRPX G>A	X	38037587	38037587	G	A	SRPX	c.108C>T	NM_006307.4	NP_006298.1:p.(Asp36=)	NC_000023.10:g.38037587G>A	(Likely) benign	1 lab	8a4b43780a
15:42145083 SPTBN5 A>G	15	42145083	42145083	A	G	SPTBN5	c.10286T>C	NM_016642.4	NP_057726.4:p.(Leu3429Pro)	NC_000015.9:g.42145083A>G	VUS	1 lab	8a4c0ee39c
17:1631785 WDR81 G>A	17	1631785	1631785	G	A	WDR81	c.3532G>A	NM_001163809.1	NP_001157281.1:p.(Ala1178Thr)	NC_000017.10:g.1631785G>A	(Likely) benign	1 lab	8a4c26e860
12:52174426 SCN8A T>C	12	52174426	52174426	T	C	SCN8A	c.3820-7T>C	NM_001330260.1	NP_001317189.1:p.?	NC_000012.11:g.52174426T>C	(Likely) benign	1 lab	8a4e35701b
X:17742485 NHS G>A	X	17742485	17742485	G	A	NHS	c.1175G>A	NM_001291867.1	NP_001278796.1:p.(Arg392Gln)	NC_000023.10:g.17742485G>A	(Likely) benign	1 lab	8a4eb78e4a
10:112540779 RBM20 AG>A	10	112540779	112540781	AG	A	RBM20	c.414del	NM_001134363.3	NP_001127835.2:p.(Arg138SerfsTer5)	NC_000010.10:g.112540781del	(Likely) pathogenic	1 lab	8a4f4a04e7
X:108718624 GUCY2F T>C	X	108718624	108718624	T	C	GUCY2F	c.542A>G	NM_001522.2	NP_001513.2:p.(Lys181Arg)	NC_000023.10:g.108718624T>C	(Likely) benign	1 lab	8a51a6c182
8:37823536 ADRB3 T>C	8	37823536	37823536	T	C	ADRB3	c.452A>G	NM_000025.2	NP_000016.1:p.(Lys151Arg)	NC_000008.10:g.37823536T>C	VUS	1 lab	8a52d79b10
1:22173970 HSPG2 G>C	1	22173970	22173970	G	C	HSPG2	c.8044C>G	NM_001291860.1	NP_001278789.1:p.(Leu2682Val)	NC_000001.10:g.22173970G>C	VUS	1 lab	8a52e35a74
1:228559891 OBSCN G>C	1	228559891	228559891	G	C	OBSCN	c.24283G>C	NM_001271223.2	NP_001258152.2:p.(Val8095Leu)	NC_000001.10:g.228559891G>C	(Likely) benign	1 lab	8a5356333e
2:228155610 COL4A3 G>A	2	228155610	228155610	G	A	COL4A3	c.3210+8G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228155610G>A	(Likely) benign	1 lab	8a53f37ef0
X:76940432 ATRX T>G	X	76940432	76940432	T	G	ATRX	c.661A>C	NM_000489.5	NP_000480.3:p.(Arg221=)	NC_000023.10:g.76940432T>G	VUS	1 lab	8a5633edda
19:48198669 BICRA C>G	19	48198669	48198669	C	G	BICRA	c.3124C>G	NM_015711.3	NP_056526.3:p.(Leu1042Val)	NC_000019.9:g.48198669C>G	(Likely) benign	1 lab	fc380f276b
17:18023835 MYO15A G>C	17	18023835	18023835	G	C	MYO15A	c.1721G>C	NM_016239.3	NP_057323.3:p.(Arg574Pro)	NC_000017.10:g.18023835G>C	VUS	1 lab	8a58565874
13:29608237 MTUS2 C>T	13	29608237	29608237	C	T	MTUS2	c.2421C>T	NM_001033602.3	NP_001028774.3:p.(Thr807=)	NC_000013.10:g.29608237C>T	(Likely) benign	1 lab	8a59105890
4:103514691 NFKB1 C>T	4	103514691	103514691	C	T	NFKB1	c.1173C>T	NM_001165412.1	NP_001158884.1:p.(Gly391=)	NC_000004.11:g.103514691C>T	(Likely) benign	1 lab	8a5a324e42
16:31196438 FUS C>T	16	31196438	31196438	C	T	FUS	c.702C>T	NM_004960.3	NP_004951.1:p.(Arg234=)	NC_000016.9:g.31196438C>T	(Likely) benign	1 lab	8a5ba70710
22:29454756 C22orf31 A>G	22	29454756	29454756	A	G	C22orf31	c.847T>C	NM_015370.1	NP_056185.1:p.(Trp283Arg)	NC_000022.10:g.29454756A>G	VUS	1 lab	8a5e84d859
X:153061983 SSR4 C>T	X	153061983	153061983	C	T	SSR4	c.186C>T	NM_001204527.1	NP_001191456.1:p.(Ser62=)	NC_000023.10:g.153061983C>T	(Likely) benign	1 lab	8a5f40b58e
5:112458374 MCC G>A	5	112458374	112458374	G	A	MCC	c.1027+7C>T	NM_001085377.1	NP_001078846.1:p.?	NC_000005.9:g.112458374G>A	(Likely) benign	1 lab	8a60dfcaaf
X:153219958 HCFC1 C>T	X	153219958	153219958	C	T	HCFC1	c.3892G>A	NM_005334.2	NP_005325.2:p.(Glu1298Lys)	NC_000023.10:g.153219958C>T	VUS	1 lab	8a624e1171
7:44739767 OGDH A>T	7	44739767	44739767	A	T	OGDH	c.2491A>T	NM_001363523.1	NP_001350452.1:p.(Asn831Tyr)	NC_000007.13:g.44739767A>T	VUS	1 lab	8a64d605dd
22:21192947 PI4KA C>T	22	21192947	21192947	C	T	PI4KA	c.229G>A	NM_058004.3	NP_477352.3:p.(Ala77Thr)	NC_000022.10:g.21192947C>T	VUS	1 lab	8a6850b0e6
X:53566664 HUWE1 C>T	X	53566664	53566664	C	T	HUWE1	c.11586G>A	NM_031407.6	NP_113584.3:p.(Glu3862=)	NC_000023.10:g.53566664C>T	(Likely) benign	1 lab	8a6c224c6d
7:87041241 ABCB4 CA>C	7	87041241	87041242	CA	C	ABCB4	c.2891del	NM_000443.4	NP_000434.1:p.(Val964GlyfsTer24)	NC_000007.13:g.87041242del	(Likely) pathogenic	1 lab	fc3c31f5ca
21:37586434 DOP1B T>C	21	37586434	37586434	T	C	DOP1B	c.960T>C	NM_001320714.1	NP_001307643.1:p.(Tyr320=)	NC_000021.8:g.37586434T>C	(Likely) benign	1 lab	8a6d389fe6
5:90001295 ADGRV1 C>A	5	90001295	90001295	C	A	ADGRV1	c.8465C>A	NM_032119.4	NP_115495.3:p.(Pro2822Gln)	NC_000005.9:g.90001295C>A	VUS	1 lab	8a6dd4bcb6
X:69960618 TEX11 T>C	X	69960618	69960618	T	C	TEX11	c.821A>G	NM_001003811.1	NP_001003811.1:p.(Asn274Ser)	NC_000023.10:g.69960618T>C	(Likely) benign	1 lab	8a70cce604
2:9695654 ADAM17 G>A	2	9695654	9695654	G	A	ADAM17	c.81C>T	NM_003183.6	NP_003174.3:p.(Gly27=)	NC_000002.11:g.9695654G>A	(Likely) benign	1 lab	8a7112ddb0
17:29586105 NF1 CT>C	17	29586105	29586108	CT	C	NF1	c.4391del	NM_001042492.3	NP_001035957.1:p.(Phe1464SerfsTer5)	NC_000017.10:g.29586108del	(Likely) pathogenic	1 lab	8a72393783
19:40901528 PRX C>T	19	40901528	40901528	C	T	PRX	c.2731G>A	NM_181882.2	NP_870998.2:p.(Val911Met)	NC_000019.9:g.40901528C>T	(Likely) benign	1 lab	8a73129f4a
17:8139610 CTC1 A>G	17	8139610	8139610	A	G	CTC1	c.843T>C	NM_025099.6	NP_079375.3:p.(Tyr281=)	NC_000017.10:g.8139610A>G	(Likely) benign	1 lab	8a73b87561
11:17631488 OTOG G>T	11	17631488	17631488	G	T	OTOG	c.4677G>T	NM_001277269.1	NP_001264198.1:p.(Glu1559Asp)	NC_000011.9:g.17631488G>T	(Likely) benign	1 lab	8a75185781
X:140994711 MAGEC1 G>C	X	140994711	140994711	G	C	MAGEC1	c.1521G>C	NM_005462.4	NP_005453.2:p.(Glu507Asp)	NC_000023.10:g.140994711G>C	(Likely) benign	1 lab	8a75f7bcf9
1:27697471 FCN3 AGG>A	1	27697471	27697478	AGG	A	FCN3	c.394-10_394-9del	NM_003665.4	NP_003656.2:p.?	NC_000001.10:g.27697477_27697478del	(Likely) benign	1 lab	8a76955d9b
4:3076689 HTT C>A	4	3076689	3076689	C	A	HTT	c.143C>A	NM_002111.8	NP_002102.4:p.(Pro48Gln)	NC_000004.11:g.3076689C>A	(Likely) benign	1 lab	8a771524e7
7:107330687 SLC26A4 G>T	7	107330687	107330687	G	T	SLC26A4	c.1263+5G>T	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107330687G>T	VUS	1 lab	8a796c293c
4:151199155 LRBA G>A	4	151199155	151199155	G	A	LRBA	c.8315C>T	NM_001199282.2	NP_001186211.2:p.(Ala2772Val)	NC_000004.11:g.151199155G>A	VUS	1 lab	8a7b70098d
15:75941844 SNX33 G>C	15	75941844	75941844	G	C	SNX33	c.401G>C	NM_153271.1	NP_695003.1:p.(Gly134Ala)	NC_000015.9:g.75941844G>C	(Likely) benign	1 lab	8a7e388dd4
17:29676264 NF1 TAGC>T	17	29676264	29676269	TAGC	T	NF1	c.7319_7321del	NM_001042492.3	NP_001035957.1:p.(Ala2441del)	NC_000017.10:g.29676267_29676269del	(Likely) pathogenic	1 lab	8a7ef2a2a6
16:28943708 CD19 G>T	16	28943708	28943708	G	T	CD19	c.130G>T	NM_001178098.1	NP_001171569.1:p.(Asp44Tyr)	NC_000016.9:g.28943708G>T	VUS	1 lab	8a81312a51
5:135385251 TGFBI G>A	5	135385251	135385251	G	A	TGFBI	c.895G>A	NM_000358.2	NP_000349.1:p.(Asp299Asn)	NC_000005.9:g.135385251G>A	(Likely) benign	1 lab	8a82d71e1c
X:47479039 SYN1 G>C	X	47479039	47479039	G	C	SYN1	c.89C>G	NM_133499.2	NP_598006.1:p.(Pro30Arg)	NC_000023.10:g.47479039G>C	VUS	1 lab	fc3fb2e14b
5:82817016 VCAN C>T	5	82817016	82817016	C	T	VCAN	c.2891C>T	NM_004385.4	NP_004376.2:p.(Thr964Ile)	NC_000005.9:g.82817016C>T	VUS	1 lab	8a87287ee7
1:115272956 CSDE1 G>A	1	115272956	115272956	G	A	CSDE1	c.1324C>T	NM_001130523.3	NP_001123995.1:p.(Arg442Cys)	NC_000001.10:g.115272956G>A	VUS	1 lab	fc424abb25
7:127231076 ARF5 G>A	7	127231076	127231076	G	A	ARF5	c.390G>A	NM_001662.4	NP_001653.1:p.(Met130Ile)	NC_000007.13:g.127231076G>A	(Likely) benign	1 lab	8a87dbe291
15:101447457 ALDH1A3 T>G	15	101447457	101447457	T	G	ALDH1A3	c.1365T>G	NM_000693.3	NP_000684.2:p.(Ala455=)	NC_000015.9:g.101447457T>G	(Likely) benign	1 lab	8a8824085a
2:102959543 IL1RL1 C>T	2	102959543	102959543	C	T	IL1RL1	c.730C>T	NM_003856.3	NP_003847.2:p.(Gln244Ter)	NC_000002.11:g.102959543C>T	VUS	1 lab	8a8880e8e9
16:88788008 PIEZO1 C>A	16	88788008	88788008	C	A	PIEZO1	c.5341G>T	NM_001142864.4	NP_001136336.2:p.(Gly1781Cys)	NC_000016.9:g.88788008C>A	(Likely) benign	1 lab	8a89767167
21:46929449 COL18A1 C>T	21	46929449	46929449	C	T	COL18A1	c.3960C>T	NM_030582.4	NP_085059.2:p.(Tyr1320=)	NC_000021.8:g.46929449C>T	(Likely) benign	1 lab	8a8ee91f34
X:153763476 G6PD C>T	X	153763476	153763476	C	T	G6PD	c.482G>A	NM_000402.4	NP_000393.4:p.(Gly161Glu)	NC_000023.10:g.153763476C>T	VUS	1 lab	8a9071553b
1:103573665 COL11A1 A>G	1	103573665	103573665	A	G	COL11A1	c.70T>C	NM_080629.2	NP_542196.2:p.(Leu24=)	NC_000001.10:g.103573665A>G	(Likely) benign	1 lab	8a91048a2d
11:6636747 TPP1 G>A	11	6636747	6636747	G	A	TPP1	c.1192C>T	NM_000391.3	NP_000382.3:p.(Leu398Phe)	NC_000011.9:g.6636747G>A	(Likely) benign	1 lab	8a92a27b16
2:202060650 CASP10 G>A	2	202060650	202060650	G	A	CASP10	c.663G>A	NM_032977.3	NP_116759.2:p.(Lys221=)	NC_000002.11:g.202060650G>A	(Likely) benign	1 lab	8a937e4679
2:152464126 NEB T>G	2	152464126	152464126	T	G	NEB	c.12535-4A>C	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152464126T>G	(Likely) benign	1 lab	8a942e7a17
20:60886007 LAMA5 C>T	20	60886007	60886007	C	T	LAMA5	c.10232G>A	NM_005560.4	NP_005551.3:p.(Arg3411Gln)	NC_000020.10:g.60886007C>T	(Likely) benign	1 lab	8a94950116
2:242195719 HDLBP C>G	2	242195719	242195719	C	G	HDLBP	c.753G>C	NM_005336.5	NP_005327.1:p.(Glu251Asp)	NC_000002.11:g.242195719C>G	(Likely) benign	1 lab	8a95ed25e8
X:118971844 UPF3B A>G	X	118971844	118971844	A	G	UPF3B	c.1178T>C	NM_080632.2	NP_542199.1:p.(Met393Thr)	NC_000023.10:g.118971844A>G	(Likely) benign	1 lab	8a9720740b
1:215933162 USH2A T>C	1	215933162	215933162	T	C	USH2A	c.11071A>G	NM_206933.2	NP_996816.2:p.(Ile3691Val)	NC_000001.10:g.215933162T>C	VUS	1 lab	8a97f896f9
12:116429552 MED13L T>C	12	116429552	116429552	T	C	MED13L	c.3207A>G	NM_015335.4	NP_056150.1:p.(Gln1069=)	NC_000012.11:g.116429552T>C	(Likely) benign	1 lab	8a985a2558
16:30236681 NPIPB13 C>CGCTGAGGGTGGA	16	30236681	30236717	C	CGCTGAGGGTGGA	NPIPB13	c.1074_1085dup	NM_001321892.1	NP_001308821.1:p.(Pro359_Ala362dup)	NC_000016.9:g.30236706_30236717dup	(Likely) benign	1 lab	8a9a099a7c
1:207648423 CR2 A>G	1	207648423	207648423	A	G	CR2	c.2578A>G	NM_001006658.2	NP_001006659.1:p.(Lys860Glu)	NC_000001.10:g.207648423A>G	(Likely) benign	1 lab	8a9a200895
19:15052646 OR7C2 A>G	19	15052646	15052646	A	G	OR7C2	c.346A>G	NM_012377.1	NP_036509.1:p.(Thr116Ala)	NC_000019.9:g.15052646A>G	(Likely) benign	1 lab	8a9bf96105
17:78087078 GAA T>C	17	78087078	78087078	T	C	GAA	c.2102T>C	NM_000152.3	NP_000143.2:p.(Leu701Pro)	NC_000017.10:g.78087078T>C	(Likely) pathogenic	1 lab	8a9cd7f60d
X:24330416 SUPT20HL2 A>G	X	24330416	24330416	A	G	SUPT20HL2	c.1095T>C	NM_001136233.2	NP_001129705.2:p.(His365=)	NC_000023.10:g.24330416A>G	(Likely) benign	1 lab	8a9e8f422c
5:151266291 GLRA1 C>T	5	151266291	151266291	C	T	GLRA1	c.243G>A	NM_001146040.1	NP_001139512.1:p.(Glu81=)	NC_000005.9:g.151266291C>T	(Likely) benign	1 lab	8a9f802827
1:22154629 HSPG2 G>A	1	22154629	22154629	G	A	HSPG2	c.12429C>T	NM_001291860.1	NP_001278789.1:p.(His4143=)	NC_000001.10:g.22154629G>A	(Likely) benign	1 lab	8aa68f4903
1:22211047 HSPG2 C>T	1	22211047	22211047	C	T	HSPG2	c.1631G>A	NM_001291860.1	NP_001278789.1:p.(Arg544His)	NC_000001.10:g.22211047C>T	VUS	1 lab	8aa6c4f300
19:36213368 KMT2B G>A	19	36213368	36213368	G	A	KMT2B	c.2565G>A	NM_014727.2	NP_055542.1:p.(Arg855=)	NC_000019.9:g.36213368G>A	(Likely) benign	1 lab	8aa76c434c
7:48349586 ABCA13 G>A	7	48349586	48349586	G	A	ABCA13	c.9364G>A	NM_152701.4	NP_689914.3:p.(Asp3122Asn)	NC_000007.13:g.48349586G>A	VUS	1 lab	8aa778fbf2
20:402851 RBCK1 C>T	20	402851	402851	C	T	RBCK1	c.872C>T	NM_006462.5	NP_006453.1:p.(Ser291Leu)	NC_000020.10:g.402851C>T	VUS	1 lab	ab01b0a3d8
7:151845334 KMT2C G>A	7	151845334	151845334	G	A	KMT2C	c.13678C>T	NM_170606.2	NP_733751.2:p.(Gln4560Ter)	NC_000007.13:g.151845334G>A	(Likely) pathogenic	1 lab	8aa78a002c
5:92921049 NR2F1 A>G	5	92921049	92921049	A	G	NR2F1	c.320A>G	NM_005654.5	NP_005645.1:p.(Lys107Arg)	NC_000005.9:g.92921049A>G	VUS	1 lab	8aa7a63d2c
4:126328260 FAT4 G>A	4	126328260	126328260	G	A	FAT4	c.5533G>A	NM_024582.4	NP_078858.4:p.(Val1845Met)	NC_000004.11:g.126328260G>A	VUS	1 lab	8aa7b6e71f
14:54418593 BMP4 G>A	14	54418593	54418593	G	A	BMP4	c.348C>T	NM_001347916.1	NP_001334845.1:p.(Thr116=)	NC_000014.8:g.54418593G>A	(Likely) benign	1 lab	8aaa99b4aa
5:172661991 NKX2-5 C>G	5	172661991	172661991	C	G	NKX2-5	c.96G>C	NM_001166175.1	NP_001159647.1:p.(Glu32Asp)	NC_000005.9:g.172661991C>G	(Likely) benign	1 lab	8aaad050ec
X:153040465 PLXNB3 T>C	X	153040465	153040465	T	C	PLXNB3	c.4131T>C	NM_001163257.1	NP_001156729.1:p.(Pro1377=)	NC_000023.10:g.153040465T>C	(Likely) benign	1 lab	8aab9347a9
4:103537697 NFKB1 C>T	4	103537697	103537697	C	T	NFKB1	c.2856C>T	NM_003998.4	NP_003989.2:p.(Leu952=)	NC_000004.11:g.103537697C>T	(Likely) benign	1 lab	8aab9de202
16:2550317 TBC1D24 G>T	16	2550317	2550317	G	T	TBC1D24	c.1351G>T	NM_001199107.1	NP_001186036.1:p.(Glu451Ter)	NC_000016.9:g.2550317G>T	(Likely) pathogenic	1 lab	8aacb24dcc
3:53842681 CACNA1D C>T	3	53842681	53842681	C	T	CACNA1D	c.5815C>T	NM_000720.3	NP_000711.1:p.(Arg1939Trp)	NC_000003.11:g.53842681C>T	VUS	1 lab	8aad1a6451
7:45108129 CCM2 TTGGGCCCG>T	7	45108129	45108140	TTGGGCCCG	T	CCM2	c.564_571del	NM_031443.4	NP_113631.1:p.(Pro189GlyfsTer44)	NC_000007.13:g.45108133_45108140del	(Likely) pathogenic	1 lab	8aaf5cc46d
10:49667897 ARHGAP22 G>A	10	49667897	49667897	G	A	ARHGAP22	c.537C>T	NM_001256024.1	NP_001242953.1:p.(His179=)	NC_000010.10:g.49667897G>A	(Likely) benign	1 lab	8ab037747b
12:103352171 PAH C>CGCAGCAGCA	12	103352171	103352208	C	CGCAGCAGCA	PAH	c.-303_-295dup	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352200_103352208dup	(Likely) benign	1 lab	fc483418a2
4:70155388 UGT2B28 G>T	4	70155388	70155388	G	T	UGT2B28	c.1008G>T	NM_053039.1	NP_444267.1:p.(Leu336=)	NC_000004.11:g.70155388G>T	(Likely) benign	1 lab	8ab645cc1c
14:103396965 AMN G>A	14	103396965	103396965	G	A	AMN	c.1310G>A	NM_030943.3	NP_112205.2:p.(Ser437Asn)	NC_000014.8:g.103396965G>A	VUS	1 lab	8ab64897c4
5:37022454 NIPBL G>A	5	37022454	37022454	G	A	NIPBL	c.5536G>A	NM_015384.4	NP_056199.2:p.(Ala1846Thr)	NC_000005.9:g.37022454G>A	VUS	1 lab	8ab7be832c
11:9192240 DENND5A T>C	11	9192240	9192240	T	C	DENND5A	c.1703A>G	NM_001348750.1	NP_001335679.1:p.(Lys568Arg)	NC_000011.9:g.9192240T>C	(Likely) benign	1 lab	8ab96867a2
6:143093152 HIVEP2 G>A	6	143093152	143093152	G	A	HIVEP2	c.2724C>T	NM_006734.3	NP_006725.3:p.(Ser908=)	NC_000006.11:g.143093152G>A	(Likely) benign	1 lab	8aba3d9bdc
2:47672754 MSH2 C>T	2	47672754	47672754	C	T	MSH2	c.1344C>T	NM_000251.2	NP_000242.1:p.(Ser448=)	NC_000002.11:g.47672754C>T	(Likely) benign	1 lab	8abb9c2f80
12:44166782 IRAK4 T>A	12	44166782	44166782	T	A	IRAK4	c.558T>A	NM_001114182.2	NP_001107654.1:p.(Ser186=)	NC_000012.11:g.44166782T>A	(Likely) benign	1 lab	8abeb781ef
X:19373457 PDHA1 C>T	X	19373457	19373457	C	T	PDHA1	c.718-10C>T	NM_001173454.1	NP_001166925.1:p.?	NC_000023.10:g.19373457C>T	(Likely) benign	1 lab	8abfbd914a
2:11916210 LPIN1 A>C	2	11916210	11916210	A	C	LPIN1	c.723-2A>C	NM_001349205.1	NP_001336134.1:p.?	NC_000002.11:g.11916210A>C	VUS	1 lab	8ad1d233ea
2:20113966 WDR35 C>T	2	20113966	20113966	C	T	WDR35	c.3227G>A	NM_001006657.1	NP_001006658.1:p.(Cys1076Tyr)	NC_000002.11:g.20113966C>T	VUS	1 lab	8affefdfd8
X:152097191 ZNF185 C>T	X	152097191	152097191	C	T	ZNF185	c.900C>T	NM_001178106.1	NP_001171577.1:p.(Asp300=)	NC_000023.10:g.152097191C>T	(Likely) benign	1 lab	8ac6c8af6c
11:102198829 BIRC3 G>A	11	102198829	102198829	G	A	BIRC3	c.1000G>A	NM_001165.4	NP_001156.1:p.(Val334Ile)	NC_000011.9:g.102198829G>A	(Likely) benign	1 lab	8ac85c0916
18:43529494 EPG5 G>A	18	43529494	43529494	G	A	EPG5	c.1453C>T	NM_020964.3	NP_066015.2:p.(Arg485Ter)	NC_000018.9:g.43529494G>A	(Likely) pathogenic	1 lab	8ac924782b
1:236972002 MTR A>G	1	236972002	236972002	A	G	MTR	c.340-2A>G	NM_000254.2	NP_000245.2:p.?	NC_000001.10:g.236972002A>G	VUS	1 lab	8ac9418d25
11:18313165 HPS5 T>C	11	18313165	18313165	T	C	HPS5	c.2264A>G	NM_181507.1	NP_852608.1:p.(Lys755Arg)	NC_000011.9:g.18313165T>C	VUS	1 lab	8acaa45805
X:17151967 REPS2 C>T	X	17151967	17151967	C	T	REPS2	c.1599C>T	NM_004726.2	NP_004717.2:p.(Ala533=)	NC_000023.10:g.17151967C>T	(Likely) benign	1 lab	8acaa649bc
14:89061118 ZC3H14 T>A	14	89061118	89061118	T	A	ZC3H14	c.48T>A	NM_207662.3	NP_997545.2:p.(Leu16=)	NC_000014.8:g.89061118T>A	(Likely) benign	1 lab	8accdcedc9
5:90073733 ADGRV1 G>A	5	90073733	90073733	G	A	ADGRV1	c.12539G>A	NM_032119.4	NP_115495.3:p.(Gly4180Asp)	NC_000005.9:g.90073733G>A	VUS	1 lab	8acdbfbc18
5:150908897 FAT2 A>C	5	150908897	150908897	A	C	FAT2	c.9868T>G	NM_001447.2	NP_001438.1:p.(Ser3290Ala)	NC_000005.9:g.150908897A>C	VUS	1 lab	8acecf25e1
X:100611131 BTK C>G	X	100611131	100611131	C	G	BTK	c.1577G>C	NM_001287344.1	NP_001274273.1:p.(Arg526Pro)	NC_000023.10:g.100611131C>G	VUS	1 lab	8ad0f6371f
14:89341374 TTC8 G>A	14	89341374	89341374	G	A	TTC8	c.1352G>A	NM_144596.3	NP_653197.2:p.(Arg451Lys)	NC_000014.8:g.89341374G>A	VUS	1 lab	8ad1c2946d
11:108190715 ATM T>C	11	108190715	108190715	T	C	ATM	c.6382T>C	NM_001351834.1	NP_001338763.1:p.(Leu2128=)	NC_000011.9:g.108190715T>C	(Likely) benign	1 lab	8ad3273467
19:19004345 CERS1 C>T	19	19004345	19004345	C	T	CERS1	c.289G>A	NM_021267.4	NP_067090.1:p.(Ala97Thr)	NC_000019.9:g.19004345C>T	VUS	1 lab	8ad3a298f9
18:55233725 FECH C>T	18	55233725	55233725	C	T	FECH				NC_000018.9:g.55233725C>T	(Likely) benign	1 lab	ab1b74a3c3
2:152266960 RIF1 C>T	2	152266960	152266960	C	T	RIF1	c.23C>T	NM_001177665.1	NP_001171136.1:p.(Pro8Leu)	NC_000002.11:g.152266960C>T	(Likely) benign	1 lab	8ad6fa24d5
1:158609712 SPTA1 C>T	1	158609712	158609712	C	T	SPTA1	c.4823G>A	NM_003126.3	NP_003117.2:p.(Arg1608His)	NC_000001.10:g.158609712C>T	VUS	1 lab	8ad7e09787
2:27447307 CAD A>G	2	27447307	27447307	A	G	CAD	c.1203A>G	NM_004341.4	NP_004332.2:p.(Ser401=)	NC_000002.11:g.27447307A>G	(Likely) benign	1 lab	8ad98a21c5
1:68912414 RPE65 C>T	1	68912414	68912414	C	T	RPE65	c.224G>A	NM_000329.2	NP_000320.1:p.(Gly75Glu)	NC_000001.10:g.68912414C>T	VUS	1 lab	8ada2b13ff
X:148059958 AFF2 C>T	X	148059958	148059958	C	T	AFF2	c.3543C>T	NM_002025.3	NP_002016.2:p.(Tyr1181=)	NC_000023.10:g.148059958C>T	(Likely) benign	1 lab	8adb14c156
17:80851437 TBCD T>C	17	80851437	80851437	T	C	TBCD	c.1578T>C	NM_005993.4	NP_005984.3:p.(His526=)	NC_000017.10:g.80851437T>C	(Likely) benign	1 lab	8adb6bba08
6:31914879 CFB T>C	6	31914879	31914879	T	C	CFB	c.394T>C	NM_001710.5	NP_001701.2:p.(Tyr132His)	NC_000006.11:g.31914879T>C	VUS	1 lab	8adc64659c
2:174223457 CDCA7 AAAG>A	2	174223457	174223465	AAAG	A	CDCA7	c.45_47del	NM_031942.5	NP_114148.3:p.(Lys15del)	NC_000002.11:g.174223463_174223465del	VUS	1 lab	8adcc77c19
14:64494308 SYNE2 C>G	14	64494308	64494308	C	G	SYNE2	c.6511C>G	NM_182914.2	NP_878918.2:p.(Leu2171Val)	NC_000014.8:g.64494308C>G	VUS	1 lab	8add247b5b
6:42647554 UBR2 A>T	6	42647554	42647554	A	T	UBR2	c.4702A>T	NM_015255.2	NP_056070.1:p.(Asn1568Tyr)	NC_000006.11:g.42647554A>T	VUS	1 lab	8ade32393a
19:50368432 PNKP C>T	19	50368432	50368432	C	T	PNKP	c.450G>A	NM_007254.3	NP_009185.2:p.(Leu150=)	NC_000019.9:g.50368432C>T	(Likely) benign	1 lab	8ade61eea9
2:179428858 TTN A>G	2	179428858	179428858	A	G	TTN	c.82001T>C	NM_001267550.1	NP_001254479.1:p.(Leu27334Pro)	NC_000002.11:g.179428858A>G	VUS	1 lab	8adf90d5f4
7:44192952 GCK C>T	7	44192952	44192952	C	T	GCK	c.156G>A	NM_001354800.1	NP_001341729.1:p.(Glu52=)	NC_000007.13:g.44192952C>T	(Likely) benign	1 lab	8ae0b8b1f3
20:47592548 ARFGEF2 C>T	20	47592548	47592548	C	T	ARFGEF2	c.1775-5C>T	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47592548C>T	(Likely) benign	1 lab	8ae0e44835
9:140657221 EHMT1 C>T	9	140657221	140657221	C	T	EHMT1	c.1596C>T	NM_024757.4	NP_079033.4:p.(Ile532=)	NC_000009.11:g.140657221C>T	(Likely) benign	1 lab	8ae1f41b4f
4:126336061 FAT4 T>C	4	126336061	126336061	T	C	FAT4	c.5943T>C	NM_024582.4	NP_078858.4:p.(Tyr1981=)	NC_000004.11:g.126336061T>C	(Likely) benign	1 lab	8ae39fc328
X:41089808 USP9X G>A	X	41089808	41089808	G	A	USP9X	c.7534G>A	NM_001039590.3	NP_001034679.2:p.(Ala2512Thr)	NC_000023.10:g.41089808G>A	VUS	1 lab	fc4c2b7c6e
4:48492358 ZAR1 G>GC	4	48492358	48492365	G	GC	ZAR1	c.57dup	NM_175619.2	NP_783318.1:p.(Cys20LeufsTer332)	NC_000004.11:g.48492365dup	VUS	1 lab	8ae435d7fc
3:148858800 HPS3 T>C	3	148858800	148858800	T	C	HPS3	c.713-4T>C	NM_032383.4	NP_115759.2:p.?	NC_000003.11:g.148858800T>C	(Likely) benign	1 lab	8ae50fc7c0
15:59517011 MYO1E G>A	15	59517011	59517011	G	A	MYO1E	c.654C>T	NM_004998.3	NP_004989.2:p.(Gly218=)	NC_000015.9:g.59517011G>A	(Likely) benign	1 lab	8ae713318d
7:154379656 MISSING C>T	7	154379656	154379656	C	T	MISSING				NC_000007.13:g.154379656C>T	(Likely) benign	1 lab	8ae85ef8ad
15:91546350 VPS33B TG>T	15	91546350	91546354	TG	T	VPS33B	c.1236del	NM_018668.5	NP_061138.3:p.(Lys413ArgfsTer6)	NC_000015.9:g.91546354del	(Likely) pathogenic	1 lab	8ae870f91e
7:102952524 PMPCB C>T	7	102952524	102952524	C	T	PMPCB	c.1351C>T	NM_004279.3	NP_004270.2:p.(Arg451Ter)	NC_000007.13:g.102952524C>T	VUS	1 lab	8ae88a1855
2:73799408 ALMS1 A>G	2	73799408	73799408	A	G	ALMS1	c.10407A>G	NM_015120.4	NP_055935.4:p.(Glu3469=)	NC_000002.11:g.73799408A>G	(Likely) benign	1 lab	8ae91ad4f9
17:6374506 PITPNM3 G>A	17	6374506	6374506	G	A	PITPNM3	c.1599C>T	NM_031220.3	NP_112497.2:p.(Ser533=)	NC_000017.10:g.6374506G>A	(Likely) benign	1 lab	8aea441db5
5:149460325 CSF1R C>T	5	149460325	149460325	C	T	CSF1R	c.307+5G>A	NM_005211.3	NP_005202.2:p.?	NC_000005.9:g.149460325C>T	VUS	1 lab	8af41fa413
14:39763224 MIA2 G>T	14	39763224	39763224	G	T	MIA2	c.480G>T	NM_203354.2	NP_976229.1:p.(Arg160Ser)	NC_000014.8:g.39763224G>T	(Likely) benign	1 lab	8aeb57f401
2:145147231 ZEB2 G>A	2	145147231	145147231	G	A	ZEB2	c.3432C>T	NM_014795.3	NP_055610.1:p.(Gly1144=)	NC_000002.11:g.145147231G>A	VUS	1 lab	8aebc0be4e
19:1043475 ABCA7 G>A	19	1043475	1043475	G	A	ABCA7	c.930+3G>A	NM_019112.3	NP_061985.2:p.?	NC_000019.9:g.1043475G>A	(Likely) benign	1 lab	8aed8e5177
15:34102691 RYR3 A>G	15	34102691	34102691	A	G	RYR3	c.10038A>G	NM_001036.4	NP_001027.3:p.(Gln3346=)	NC_000015.9:g.34102691A>G	(Likely) benign	1 lab	8aedf13e08
18:3452116 TGIF1 C>T	18	3452116	3452116	C	T	TGIF1	c.139C>T	NM_170695.3	NP_733796.2:p.(Leu47=)	NC_000018.9:g.3452116C>T	(Likely) benign	1 lab	8aee0ce048
6:56481374 DST G>A	6	56481374	56481374	G	A	DST	c.6891C>T	NM_001723.5	NP_001714.1:p.(Asn2297=)	NC_000006.11:g.56481374G>A	(Likely) benign	1 lab	8aee69a2ec
14:75366985 DLST C>G	14	75366985	75366985	C	G	DLST	c.976-7C>G	NM_001933.4	NP_001924.2:p.?	NC_000014.8:g.75366985C>G	(Likely) benign	1 lab	8aef0f42e4
1:46876525 FAAH C>T	1	46876525	46876525	C	T	FAAH	c.1315C>T	NM_001441.2	NP_001432.2:p.(Arg439Cys)	NC_000001.10:g.46876525C>T	VUS	1 lab	8af0a85b16
5:132232750 AFF4 C>T	5	132232750	132232750	C	T	AFF4	c.1572G>A	NM_014423.3	NP_055238.1:p.(Thr524=)	NC_000005.9:g.132232750C>T	(Likely) benign	1 lab	8af16f8b9a
13:32954226 BRCA2 C>G	13	32954226	32954226	C	G	BRCA2	c.9200C>G	NM_000059.3	NP_000050.2:p.(Pro3067Arg)	NC_000013.10:g.32954226C>G	(Likely) pathogenic	1 lab	8af26d1263
7:141301040 AGK C>T	7	141301040	141301040	C	T	AGK	c.257C>T	NM_018238.4	NP_060708.1:p.(Pro86Leu)	NC_000007.13:g.141301040C>T	VUS	1 lab	8af4862d67
11:72145360 CLPB C>T	11	72145360	72145360	C	T	CLPB	c.159G>A	NM_030813.6	NP_110440.1:p.(Gly53=)	NC_000011.9:g.72145360C>T	(Likely) benign	1 lab	8af4e83273
9:139265430 CARD9 G>A	9	139265430	139265430	G	A	CARD9	c.490C>T	NM_052813.4	NP_434700.2:p.(Leu164Phe)	NC_000009.11:g.139265430G>A	VUS	1 lab	8af4ebeb8e
2:211306159 LANCL1 T>C	2	211306159	211306159	T	C	LANCL1	c.416A>G	NM_006055.2	NP_006046.1:p.(His139Arg)	NC_000002.11:g.211306159T>C	(Likely) benign	1 lab	8af694852b
5:126113364 LMNB1 C>T	5	126113364	126113364	C	T	LMNB1	c.164C>T	NM_005573.3	NP_005564.1:p.(Thr55Met)	NC_000005.9:g.126113364C>T	VUS	1 lab	8af6bfc51f
12:80935452 MISSING C>T	12	80935452	80935452	C	T	MISSING				NC_000012.11:g.80935452C>T	(Likely) benign	1 lab	8af728d3c2
8:55540098 RP1 G>A	8	55540098	55540098	G	A	RP1	c.3656G>A	NM_006269.1	NP_006260.1:p.(Ser1219Asn)	NC_000008.10:g.55540098G>A	VUS	1 lab	8afa221706
11:6578641 DNHD1 C>A	11	6578641	6578641	C	A	DNHD1	c.8116C>A	NM_144666.2	NP_653267.2:p.(Pro2706Thr)	NC_000011.9:g.6578641C>A	(Likely) benign	1 lab	8afab4cd4e
1:120468261 NOTCH2 C>T	1	120468261	120468261	C	T	NOTCH2	c.4178G>A	NM_024408.3	NP_077719.2:p.(Arg1393His)	NC_000001.10:g.120468261C>T	(Likely) benign	1 lab	8afb25a8ee
16:3706702 DNASE1 C>G	16	3706702	3706702	C	G	DNASE1	c.384C>G	NM_005223.3	NP_005214.2:p.(Asn128Lys)	NC_000016.9:g.3706702C>G	(Likely) benign	1 lab	8afcf1ea79
1:216243616 USH2A G>A	1	216243616	216243616	G	A	USH2A	c.5876C>T	NM_206933.2	NP_996816.2:p.(Thr1959Ile)	NC_000001.10:g.216243616G>A	VUS	1 lab	8afde9dbbd
16:68719191 CDH3 G>A	16	68719191	68719191	G	A	CDH3	c.1508G>A	NM_001317195.1	NP_001304124.1:p.(Arg503His)	NC_000016.9:g.68719191G>A	(Likely) pathogenic	1 lab	8afe87deef
11:9830496 SBF2 A>G	11	9830496	9830496	A	G	SBF2	c.4209T>C	NM_030962.3	NP_112224.1:p.(Gly1403=)	NC_000011.9:g.9830496A>G	(Likely) benign	1 lab	8affa06d34
17:29556483 NF1 G>TAC	17	29556483	29556483	G	TAC	NF1	c.2850delinsTAC	NM_000267.3	NP_000258.1:p.(Gln950HisfsTer5)	NC_000017.10:g.29556483delinsTAC	(Likely) pathogenic	1 lab	8affa4f88c
X:69353859 IGBP1 A>G	X	69353859	69353859	A	G	IGBP1	c.62A>G	NM_001551.2	NP_001542.1:p.(Gln21Arg)	NC_000023.10:g.69353859A>G	(Likely) benign	1 lab	8affc19dc6
6:109699158 CD164 T>C	6	109699158	109699158	T	C	CD164	c.276A>G	NM_006016.5	NP_006007.2:p.(Ser92=)	NC_000006.11:g.109699158T>C	(Likely) benign	1 lab	8affd9578e
X:10180518 CLCN4 C>T	X	10180518	10180518	C	T	CLCN4	c.1401C>T	NM_001830.3	NP_001821.2:p.(Gly467=)	NC_000023.10:g.10180518C>T	(Likely) benign	1 lab	8b0041feec
15:92706192 SLCO3A1 C>T	15	92706192	92706192	C	T	SLCO3A1	c.1960C>T	NM_013272.4	NP_037404.2:p.(Arg654Cys)	NC_000015.9:g.92706192C>T	VUS	1 lab	8b00dfe266
11:73814671 C2CD3 C>G	11	73814671	73814671	C	G	C2CD3	c.2086-1G>C	NM_001286577.1	NP_001273506.1:p.?	NC_000011.9:g.73814671C>G	VUS	1 lab	8b01086173
16:2149780 PKD1 A>T	16	2149780	2149780	A	T	PKD1	c.9924-9T>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2149780A>T	(Likely) benign	1 lab	8b0427a34f
X:48547166 WAS C>T	X	48547166	48547166	C	T	WAS	c.1049C>T	NM_000377.2	NP_000368.1:p.(Ala350Val)	NC_000023.10:g.48547166C>T	(Likely) benign	1 lab	8b05ad6f25
5:1279428 TERT G>A	5	1279428	1279428	G	A	TERT	c.2108C>T	NM_198253.3	NP_937983.2:p.(Pro703Leu)	NC_000005.9:g.1279428G>A	(Likely) benign	1 lab	fc5228e563
17:29550598 NF1 A>T	17	29550598	29550598	A	T	NF1	c.1845+13A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550598A>T	(Likely) benign	1 lab	8b06c969f7
11:117314740 DSCAML1 C>T	11	117314740	117314740	C	T	DSCAML1	c.3904G>A	NM_020693.3	NP_065744.2:p.(Glu1302Lys)	NC_000011.9:g.117314740C>T	VUS	1 lab	8b0892729c
10:13696479 FRMD4A G>T	10	13696479	13696479	G	T	FRMD4A	c.2987C>A	NM_018027.4	NP_060497.3:p.(Pro996Gln)	NC_000010.10:g.13696479G>T	VUS	1 lab	8b0a03918f
9:135804191 TSC1 GT>G	9	135804191	135804192	GT	G	TSC1	c.68del	NM_000368.5	NP_000359.1:p.(Asp23AlafsTer3)	NC_000009.11:g.135804192del	(Likely) pathogenic	1 lab	8b0a84f938
19:10663650 ATG4D C>T	19	10663650	10663650	C	T	ATG4D	c.1143C>T	NM_001281504.1	NP_001268433.1:p.(Cys381=)	NC_000019.9:g.10663650C>T	(Likely) benign	1 lab	8b0d51d6b1
22:32894401 FBXO7 G>A	22	32894401	32894401	G	A	FBXO7	c.1453G>A	NM_012179.3	NP_036311.3:p.(Val485Ile)	NC_000022.10:g.32894401G>A	(Likely) benign	1 lab	8b0f097751
10:26446418 MYO3A G>T	10	26446418	26446418	G	T	MYO3A	c.2973G>T	NM_017433.5	NP_059129.3:p.(Arg991=)	NC_000010.10:g.26446418G>T	(Likely) benign	1 lab	8b0fe59089
9:139902968 ABCA2 C>T	9	139902968	139902968	C	T	ABCA2	c.7265G>A	NM_212533.2	NP_997698.1:p.(Arg2422Gln)	NC_000009.11:g.139902968C>T	VUS	1 lab	8b10ca51e5
21:47851424 PCNT G>A	21	47851424	47851424	G	A	PCNT	c.8065-19G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47851424G>A	(Likely) benign	1 lab	8b11f5dc70
2:47641406 MSH2 A>C	2	47641406	47641406	A	C	MSH2	c.793-2A>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641406A>C	(Likely) pathogenic	1 lab	fc586567bc
5:101834433 SLCO6A1 G>A	5	101834433	101834433	G	A	SLCO6A1	c.116C>T	NM_173488.4	NP_775759.3:p.(Pro39Leu)	NC_000005.9:g.101834433G>A	(Likely) benign	1 lab	8b13ce7f2e
5:176638165 NSD1 CGAAG>C	5	176638165	176638171	CGAAG	C	NSD1	c.2768_2771del	NM_022455.5	NP_071900.2:p.(Lys923SerfsTer4)	NC_000005.9:g.176638168_176638171del	(Likely) pathogenic	1 lab	8b14646590
19:1207073 STK11 TGCTGGGGGAAG>T	19	1207073	1207087	TGCTGGGGGAAG	T	STK11	c.165_175del	NM_000455.5	NP_000446.1:p.(Gly56LeufsTer103)	NC_000019.9:g.1207077_1207087del	(Likely) pathogenic	1 lab	8b1516a6b3
19:11558442 PRKCSH T>C	19	11558442	11558442	T	C	PRKCSH	c.1029+9T>C	NM_001289103.1	NP_001276032.1:p.?	NC_000019.9:g.11558442T>C	(Likely) benign	1 lab	8b1796c37b
2:15607502 NBAS C>T	2	15607502	15607502	C	T	NBAS	c.2048G>A	NM_015909.3	NP_056993.2:p.(Arg683His)	NC_000002.11:g.15607502C>T	VUS	1 lab	8b1872e68e
18:29178549 TTR G>A	18	29178549	29178549	G	A	TTR	c.355G>A	NM_000371.4	NP_000362.1:p.(Asp119Asn)	NC_000018.9:g.29178549G>A	VUS	1 lab	fc5ad2752c
10:52913007 PRKG1 A>G	10	52913007	52913007	A	G	PRKG1	c.395A>G	NM_006258.4	NP_006249.1:p.(Asp132Gly)	NC_000010.10:g.52913007A>G	(Likely) benign	1 lab	8b18d84b26
7:103234834 RELN A>G	7	103234834	103234834	A	G	RELN	c.3645T>C	NM_005045.3	NP_005036.2:p.(Asp1215=)	NC_000007.13:g.103234834A>G	(Likely) benign	1 lab	8b19f43fba
X:140966981 MAGEC3 G>A	X	140966981	140966981	G	A	MAGEC3	c.279G>A	NM_138702.1	NP_619647.1:p.(Gly93=)	NC_000023.10:g.140966981G>A	(Likely) benign	1 lab	8b1adac4a9
10:14995985 DCLRE1C C>T	10	14995985	14995985	C	T	DCLRE1C	c.25G>A	NM_001033855.1	NP_001029027.1:p.(Ala9Thr)	NC_000010.10:g.14995985C>T	VUS	1 lab	8b1cf536cd
X:149638018 MAMLD1 G>A	X	149638018	149638018	G	A	MAMLD1	c.173G>A	NM_005491.4	NP_005482.2:p.(Gly58Glu)	NC_000023.10:g.149638018G>A	VUS	1 lab	8b1ea6f19d
X:103903610 IL1RAPL2 C>T	X	103903610	103903610	C	T	IL1RAPL2	c.16C>T	NM_017416.1	NP_059112.1:p.(Leu6Phe)	NC_000023.10:g.103903610C>T	(Likely) benign	1 lab	8b1eb42b77
22:43901473 MPPED1 C>T	22	43901473	43901473	C	T	MPPED1	c.958C>T	NM_001044370.2	NP_001037835.1:p.(Leu320Phe)	NC_000022.10:g.43901473C>T	VUS	1 lab	8b1ed9568d
16:88496785 ZNF469 GGGCGGC>G	16	88496785	88496797	GGGCGGC	G	ZNF469	c.2914_2919del	NM_001367624.2	NP_001354553.1:p.(Gly972_Gly973del)	NC_000016.9:g.88496792_88496797del	VUS	1 lab	8b1ee1efcd
11:59596981 CBLIF G>A	11	59596981	59596981	G	A	CBLIF	c.1230C>T	NM_005142.2	NP_005133.2:p.(Ile410=)	NC_000011.9:g.59596981G>A	(Likely) benign	1 lab	8b1f229eed
2:220417584 OBSL1 A>C	2	220417584	220417584	A	C	OBSL1	c.5146+6T>G	NM_015311.2	NP_056126.1:p.?	NC_000002.11:g.220417584A>C	VUS	1 lab	8b21893ed9
X:2936649 ARSH T>C	X	2936649	2936649	T	C	ARSH	c.839T>C	NM_001011719.1	NP_001011719.1:p.(Phe280Ser)	NC_000023.10:g.2936649T>C	(Likely) benign	1 lab	8b21cadd2d
X:153775038 G6PD G>A	X	153775038	153775038	G	A	G6PD	c.48C>T	NM_000402.4	NP_000393.4:p.(Gly16=)	NC_000023.10:g.153775038G>A	(Likely) benign	1 lab	8b228b7c32
12:104142831 STAB2 A>C	12	104142831	104142831	A	C	STAB2	c.6335A>C	NM_017564.10	NP_060034.9:p.(Lys2112Thr)	NC_000012.11:g.104142831A>C	(Likely) benign	1 lab	8b24032fb9
7:103050841 SLC26A5 G>A	7	103050841	103050841	G	A	SLC26A5	c.726C>T	NM_198999.2	NP_945350.1:p.(Ser242=)	NC_000007.13:g.103050841G>A	(Likely) benign	1 lab	8b26c41375
22:41536270 EP300 C>G	22	41536270	41536270	C	G	EP300	c.1878+9C>G	NM_001429.3	NP_001420.2:p.?	NC_000022.10:g.41536270C>G	(Likely) benign	1 lab	8b2abc4101
6:50811026 TFAP2B A>C	6	50811026	50811026	A	C	TFAP2B	c.1304A>C	NM_003221.3	NP_003212.2:p.(Asn435Thr)	NC_000006.11:g.50811026A>C	VUS	1 lab	8b2b7fc0a4
6:43565524 POLH A>T	6	43565524	43565524	A	T	POLH	c.582A>T	NM_006502.2	NP_006493.1:p.(Ala194=)	NC_000006.11:g.43565524A>T	(Likely) benign	1 lab	8b2d17d2d5
16:226927 HBA1 G>A	16	226927	226927	G	A	HBA1	c.96-1G>A	NM_000558.5	NP_000549.1:p.?	NC_000016.9:g.226927G>A	(Likely) pathogenic	1 lab	8b2d46dc62
19:9204692 OR1M1 G>A	19	9204692	9204692	G	A	OR1M1	c.772G>A	NM_001004456.1	NP_001004456.1:p.(Val258Ile)	NC_000019.9:g.9204692G>A	VUS	1 lab	8b2d71bec4
9:135776131 TSC1 GT>G	9	135776131	135776133	GT	G	TSC1	c.2595del	NM_000368.5	NP_000359.1:p.(Gln865HisfsTer13)	NC_000009.11:g.135776133del	(Likely) pathogenic	1 lab	8b2f9fa569
8:10470652 RP1L1 C>A	8	10470652	10470652	C	A	RP1L1	c.956G>T	NM_178857.5	NP_849188.4:p.(Gly319Val)	NC_000008.10:g.10470652C>A	VUS	1 lab	8b309ce620
19:12992163 DNASE2 C>G	19	12992163	12992163	C	G	DNASE2	c.27G>C	NM_001375.3	NP_001366.1:p.(Leu9=)	NC_000019.9:g.12992163C>G	(Likely) benign	1 lab	8b30a075e1
19:13411386 CACNA1A C>T	19	13411386	13411386	C	T	CACNA1A	c.2269G>A	NM_023035.2	NP_075461.2:p.(Ala757Thr)	NC_000019.9:g.13411386C>T	VUS	1 lab	8b310bcad0
11:1785017 CTSD T>G	11	1785017	1785017	T	G	CTSD	c.68+5A>C	NM_001909.4	NP_001900.1:p.?	NC_000011.9:g.1785017T>G	(Likely) benign	1 lab	ba427c9f5a
19:42492703 ATP1A3 A>G	19	42492703	42492703	A	G	ATP1A3	c.57T>C	NM_001256214.1	NP_001243143.1:p.(Asp19=)	NC_000019.9:g.42492703A>G	(Likely) benign	1 lab	8b317cf909
5:92923689 NR2F1 A>AC	5	92923689	92923694	A	AC	NR2F1	c.535dup	NM_005654.5	NP_005645.1:p.(Leu179ProfsTer218)	NC_000005.9:g.92923694dup	(Likely) pathogenic	1 lab	8b3284e4bd
1:247587232 NLRP3 A>G	1	247587232	247587232	A	G	NLRP3	c.481A>G	NM_001243133.1	NP_001230062.1:p.(Ser161Gly)	NC_000001.10:g.247587232A>G	(Likely) benign	1 lab	8b33ca4c96
19:1054267 ABCA7 G>A	19	1054267	1054267	G	A	ABCA7	c.3653G>A	NM_019112.3	NP_061985.2:p.(Arg1218His)	NC_000019.9:g.1054267G>A	(Likely) benign	1 lab	8b3565b1bc
6:152462438 SYNE1 G>A	6	152462438	152462438	G	A	SYNE1	c.25146C>T	NM_182961.3	NP_892006.3:p.(Ser8382=)	NC_000006.11:g.152462438G>A	(Likely) benign	1 lab	8b36f51dd7
6:44280840 AARS2 A>T	6	44280840	44280840	A	T	AARS2	c.221T>A	NM_020745.3	NP_065796.1:p.(Phe74Tyr)	NC_000006.11:g.44280840A>T	VUS	1 lab	8b373eeab4
16:2136203 TSC2 G>A	16	2136203	2136203	G	A	TSC2	c.4672G>A	NM_000548.3	NP_000539.2:p.(Glu1558Lys)	NC_000016.9:g.2136203G>A	(Likely) pathogenic	1 lab	8b39c789ec
9:12704517 TYRP1 T>C	9	12704517	12704517	T	C	TYRP1	c.1082-9T>C	NM_000550.2	NP_000541.1:p.?	NC_000009.11:g.12704517T>C	(Likely) benign	1 lab	8b3aadf523
9:140051229 GRIN1 C>T	9	140051229	140051229	C	T	GRIN1	c.780C>T	NM_007327.3	NP_015566.1:p.(Arg260=)	NC_000009.11:g.140051229C>T	(Likely) benign	1 lab	8b3b1ac719
9:104124908 BAAT G>C	9	104124908	104124908	G	C	BAAT	c.1059C>G	NM_001701.3	NP_001692.1:p.(Thr353=)	NC_000009.11:g.104124908G>C	(Likely) benign	1 lab	8b3ba40478
19:9063219 MUC16 G>C	19	9063219	9063219	G	C	MUC16	c.24227C>G	NM_024690.2	NP_078966.2:p.(Ala8076Gly)	NC_000019.9:g.9063219G>C	VUS	1 lab	8b3d71bb1d
8:6272299 MCPH1 T>C	8	6272299	6272299	T	C	MCPH1	c.128T>C	NM_024596.4	NP_078872.2:p.(Phe43Ser)	NC_000008.10:g.6272299T>C	VUS	1 lab	8b3dac8413
12:133327444 ANKLE2 G>C	12	133327444	133327444	G	C	ANKLE2	c.641-9C>G	NM_015114.2	NP_055929.1:p.?	NC_000012.11:g.133327444G>C	VUS	1 lab	8b3e8f1203
X:99921887 SRPX2 T>C	X	99921887	99921887	T	C	SRPX2	c.918T>C	NM_014467.2	NP_055282.1:p.(Cys306=)	NC_000023.10:g.99921887T>C	(Likely) benign	1 lab	8b3f103dda
12:7173913 C1S T>C	12	7173913	7173913	T	C	C1S	c.963T>C	NM_201442.3	NP_958850.1:p.(Cys321=)	NC_000012.11:g.7173913T>C	(Likely) benign	1 lab	8b40b4fb40
9:117103921 AKNA C>T	9	117103921	117103921	C	T	AKNA	c.3959G>A	NM_030767.5	NP_110394.3:p.(Arg1320His)	NC_000009.11:g.117103921C>T	VUS	1 lab	8b42246d7a
9:35706519 TLN1 G>T	9	35706519	35706519	G	T	TLN1	c.5118C>A	NM_006289.4	NP_006280.3:p.(Val1706=)	NC_000009.11:g.35706519G>T	(Likely) benign	1 lab	8b42b4426f
2:73800074 ALMS1 C>T	2	73800074	73800074	C	T	ALMS1	c.11073C>T	NM_015120.4	NP_055935.4:p.(Gly3691=)	NC_000002.11:g.73800074C>T	VUS	1 lab	8b4361a542
9:135781002 TSC1 G>A	9	135781002	135781002	G	A	TSC1	c.1963C>T	NM_000368.4	NP_000359.1:p.(Gln655Ter)	NC_000009.11:g.135781002G>A	(Likely) pathogenic	1 lab	8b44954e42
16:89776301 VPS9D1 C>T	16	89776301	89776301	C	T	VPS9D1	c.1272G>A	NM_004913.3	NP_004904.2:p.(Ser424=)	NC_000016.9:g.89776301C>T	(Likely) benign	1 lab	8b452d3476
8:100587922 VPS13B C>T	8	100587922	100587922	C	T	VPS13B	c.5061C>T	NM_017890.4	NP_060360.3:p.(Thr1687=)	NC_000008.10:g.100587922C>T	(Likely) benign	1 lab	8b4606e4a5
20:50139992 NFATC2 A>C	20	50139992	50139992	A	C	NFATC2	c.788T>G	NM_012340.5	NP_036472.2:p.(Leu263Arg)	NC_000020.10:g.50139992A>C	(Likely) benign	1 lab	8b46420cab
16:67183232 B3GNT9 G>C	16	67183232	67183232	G	C	B3GNT9	c.1157C>G	NM_033309.3	NP_171608.2:p.(Ala386Gly)	NC_000016.9:g.67183232G>C	VUS	1 lab	8b466d1a73
10:26443733 MYO3A C>T	10	26443733	26443733	C	T	MYO3A	c.2774C>T	NM_017433.5	NP_059129.3:p.(Thr925Met)	NC_000010.10:g.26443733C>T	VUS	1 lab	8b466fab56
9:140093496 TPRN G>A	9	140093496	140093496	G	A	TPRN	c.1668C>T	NM_001128228.3	NP_001121700.2:p.(Gly556=)	NC_000009.11:g.140093496G>A	(Likely) benign	1 lab	8b48067665
12:130926784 RIMBP2 G>A	12	130926784	130926784	G	A	RIMBP2	c.1113C>T	NM_001351230.1	NP_001338159.1:p.(Ile371=)	NC_000012.11:g.130926784G>A	(Likely) benign	1 lab	8b4b108280
5:90124765 ADGRV1 C>A	5	90124765	90124765	C	A	ADGRV1	c.16373C>A	NM_032119.4	NP_115495.3:p.(Pro5458Gln)	NC_000005.9:g.90124765C>A	VUS	1 lab	8b4dc6445f
5:82837270 VCAN A>T	5	82837270	82837270	A	T	VCAN	c.8448A>T	NM_004385.4	NP_004376.2:p.(Thr2816=)	NC_000005.9:g.82837270A>T	(Likely) benign	1 lab	8b51470e11
X:117959861 ZCCHC12 G>A	X	117959861	117959861	G	A	ZCCHC12	c.654G>A	NM_173798.3	NP_776159.1:p.(Glu218=)	NC_000023.10:g.117959861G>A	(Likely) benign	1 lab	8b550dc11c
17:33904281 PEX12 C>A	17	33904281	33904281	C	A	PEX12	c.456G>T	NM_000286.2	NP_000277.1:p.(Trp152Cys)	NC_000017.10:g.33904281C>A	VUS	1 lab	8b55a6363e
12:40626185 LRRK2 A>G	12	40626185	40626185	A	G	LRRK2	c.347A>G	NM_198578.3	NP_940980.3:p.(Gln116Arg)	NC_000012.11:g.40626185A>G	(Likely) benign	1 lab	8b583a1314
1:216390841 USH2A G>C	1	216390841	216390841	G	C	USH2A	c.3045C>G	NM_206933.2	NP_996816.2:p.(His1015Gln)	NC_000001.10:g.216390841G>C	VUS	1 lab	8b5a0fae33
Y:6939596 TBL1Y C>T	Y	6939596	6939596	C	T	TBL1Y	c.733-5C>T	NM_033284.1	NP_150600.1:p.?	NC_000024.9:g.6939596C>T	(Likely) benign	1 lab	8b5dbcbba3
10:75397605 MYOZ1 G>A	10	75397605	75397605	G	A	MYOZ1	c.149C>T	NM_021245.4	NP_067068.1:p.(Ser50Leu)	NC_000010.10:g.75397605G>A	VUS	1 lab	fc5fc1cbf6
X:82763435 POU3F4 C>A	X	82763435	82763435	C	A	POU3F4	c.103C>A	NM_000307.4	NP_000298.3:p.(Gln35Lys)	NC_000023.10:g.82763435C>A	VUS	1 lab	8b5fef060e
4:955534 DGKQ C>A	4	955534	955534	C	A	DGKQ	c.2404G>T	NM_001347.4	NP_001338.2:p.(Glu802Ter)	NC_000004.11:g.955534C>A	VUS	1 lab	8c2665d6ed
17:41219646 BRCA1 T>C	17	41219646	41219646	T	C	BRCA1	c.5053A>G	NM_007294.3	NP_009225.1:p.(Thr1685Ala)	NC_000017.10:g.41219646T>C	VUS	1 lab	8b611e2f27
17:18051861 MYO15A C>T	17	18051861	18051861	C	T	MYO15A	c.6743C>T	NM_016239.3	NP_057323.3:p.(Ala2248Val)	NC_000017.10:g.18051861C>T	VUS	1 lab	8b614443fd
2:152496459 NEB C>T	2	152496459	152496459	C	T	NEB	c.8801G>A	NM_001271208.1	NP_001258137.1:p.(Arg2934His)	NC_000002.11:g.152496459C>T	(Likely) benign	1 lab	8b61fb5989
3:100030720 TBC1D23 C>T	3	100030720	100030720	C	T	TBC1D23	c.1597C>T	NM_001199198.3	NP_001186127.1:p.(Arg533Trp)	NC_000003.11:g.100030720C>T	VUS	1 lab	8b67433a67
2:198571706 MARS2 CTGTCACCCCAAGCCTAGCT>C	2	198571706	198571725	CTGTCACCCCAAGCCTAGCT	C	MARS2	c.1578_1596del	NM_138395.4	NP_612404.1:p.(Val527ThrfsTer48)	NC_000002.11:g.198571707_198571725del	(Likely) pathogenic	1 lab	8b67c86e50
10:105798252 COL17A1 C>T	10	105798252	105798252	C	T	COL17A1	c.2982G>A	NM_000494.4	NP_000485.3:p.(Pro994=)	NC_000010.10:g.105798252C>T	(Likely) benign	1 lab	8b67d02c90
1:114439072 AP4B1 T>G	1	114439072	114439072	T	G	AP4B1	c.1318A>C	NM_006594.4	NP_006585.2:p.(Ile440Leu)	NC_000001.10:g.114439072T>G	(Likely) benign	1 lab	8b694b5439
5:73045803 ARHGEF28 G>A	5	73045803	73045803	G	A	ARHGEF28	c.175G>A	NM_001080479.2	NP_001073948.2:p.(Val59Ile)	NC_000005.9:g.73045803G>A	(Likely) benign	1 lab	8b69ac2d3e
17:58234894 CA4 C>T	17	58234894	58234894	C	T	CA4	c.375C>T	NM_000717.4	NP_000708.1:p.(Gly125=)	NC_000017.10:g.58234894C>T	(Likely) benign	1 lab	8b6a46cbfa
20:10621760 JAG1 C>A	20	10621760	10621760	C	A	JAG1	c.3048+1G>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621760C>A	(Likely) pathogenic	1 lab	fc611b534a
X:66941797 AR T>G	X	66941797	66941797	T	G	AR	c.2441T>G	NM_000044.4	NP_000035.2:p.(Phe814Cys)	NC_000023.10:g.66941797T>G	(Likely) pathogenic	1 lab	8b6a9d055f
10:99510205 ZFYVE27 C>T	10	99510205	99510205	C	T	ZFYVE27	c.782C>T	NM_144588.6	NP_653189.3:p.(Thr261Met)	NC_000010.10:g.99510205C>T	VUS	1 lab	8b6ad6455a
16:89347220 ANKRD11 GT>G	16	89347220	89347221	GT	G	ANKRD11	c.5729del	NM_013275.6	NP_037407.4:p.(Asp1910AlafsTer53)	NC_000016.9:g.89347221del	(Likely) pathogenic	1 lab	fc62b1197a
1:46663456 POMGNT1 A>G	1	46663456	46663456	A	G	POMGNT1	c.38T>C	NM_001243766.1	NP_001230695.1:p.(Phe13Ser)	NC_000001.10:g.46663456A>G	VUS	1 lab	8b6be53abf
X:149638209 MAMLD1 A>G	X	149638209	149638209	A	G	MAMLD1	c.364A>G	NM_005491.4	NP_005482.2:p.(Met122Val)	NC_000023.10:g.149638209A>G	(Likely) benign	1 lab	8b72003184
X:101615529 NXF2B A>G	X	101615529	101615529	A	G	NXF2B	c.1874T>C	NM_001099686.2	NP_001093156.1:p.(Ile625Thr)	NC_000023.10:g.101615529A>G	(Likely) benign	1 lab	8b727b7987
1:235918793 LYST A>G	1	235918793	235918793	A	G	LYST	c.7214T>C	NM_001301365.1	NP_001288294.1:p.(Ile2405Thr)	NC_000001.10:g.235918793A>G	(Likely) benign	1 lab	8b72d3b6d6
18:44098219 LOXHD1 C>A	18	44098219	44098219	C	A	LOXHD1	c.5086G>T	NM_144612.6	NP_653213.6:p.(Val1696Phe)	NC_000018.9:g.44098219C>A	VUS	1 lab	8b740b1e43
20:47614742 ARFGEF2 G>A	20	47614742	47614742	G	A	ARFGEF2	c.3234G>A	NM_006420.2	NP_006411.2:p.(Gly1078=)	NC_000020.10:g.47614742G>A	(Likely) benign	1 lab	8b751bc452
12:21014025 SLCO1B3 A>G	12	21014025	21014025	A	G	SLCO1B3	c.434A>G	NM_019844.3	NP_062818.1:p.(Asn145Ser)	NC_000012.11:g.21014025A>G	(Likely) benign	1 lab	8b7532689e
1:1470829 TMEM240 C>T	1	1470829	1470829	C	T	TMEM240	c.432G>A	NM_001114748.1	NP_001108220.1:p.(Pro144=)	NC_000001.10:g.1470829C>T	(Likely) benign	1 lab	8b75649d27
3:189838389 P3H2 G>T	3	189838389	189838389	G	T	P3H2	c.132C>A	NM_018192.4	NP_060662.2:p.(Phe44Leu)	NC_000003.11:g.189838389G>T	VUS	1 lab	8b7741607f
15:91292752 BLM G>C	15	91292752	91292752	G	C	BLM	c.254G>C	NM_001287246.1	NP_001274175.1:p.(Arg85Thr)	NC_000015.9:g.91292752G>C	(Likely) benign	1 lab	8b77b1d099
6:119137154 MCM9 A>C	6	119137154	119137154	A	C	MCM9	c.2265T>G	NM_017696.2	NP_060166.2:p.(Pro755=)	NC_000006.11:g.119137154A>C	(Likely) benign	1 lab	8b77fee22d
18:7037683 LAMA1 T>C	18	7037683	7037683	T	C	LAMA1	c.1631A>G	NM_005559.3	NP_005550.2:p.(Asp544Gly)	NC_000018.9:g.7037683T>C	(Likely) benign	1 lab	8b78a51fc5
X:149639280 MAMLD1 C>T	X	149639280	149639280	C	T	MAMLD1	c.1435C>T	NM_005491.4	NP_005482.2:p.(Leu479=)	NC_000023.10:g.149639280C>T	(Likely) benign	1 lab	8b7a441afb
5:167945007 RARS1 G>A	5	167945007	167945007	G	A	RARS1	c.1813G>A	NM_002887.3	NP_002878.2:p.(Ala605Thr)	NC_000005.9:g.167945007G>A	VUS	1 lab	8b7a443cc0
2:234243667 SAG C>G	2	234243667	234243667	C	G	SAG	c.866C>G	NM_000541.4	NP_000532.2:p.(Ala289Gly)	NC_000002.11:g.234243667C>G	VUS	1 lab	8b7a500b2f
21:38877692 DYRK1A ACTT>A	21	38877692	38877695	ACTT	A	DYRK1A	c.1320_1322del	NM_001347721.2	NP_001334650.1:p.(Tyr440Ter)	NC_000021.8:g.38877693_38877695del	(Likely) pathogenic	1 lab	8b7bb29567
8:1728588 CLN8 C>T	8	1728588	1728588	C	T	CLN8	c.716C>T	NM_018941.3	NP_061764.2:p.(Ala239Val)	NC_000008.10:g.1728588C>T	(Likely) benign	1 lab	8b7c335f92
16:716494 WDR90 G>A	16	716494	716494	G	A	WDR90	c.4780G>A	NM_145294.5	NP_660337.3:p.(Ala1594Thr)	NC_000016.9:g.716494G>A	VUS	1 lab	8b7dc215e8
4:6718553 BLOC1S4 A>G	4	6718553	6718553	A	G	BLOC1S4	c.617A>G	NM_018366.2	NP_060836.1:p.(Asp206Gly)	NC_000004.11:g.6718553A>G	VUS	1 lab	8b7dcae52c
8:48794579 PRKDC G>A	8	48794579	48794579	G	A	PRKDC	c.4856C>T	NM_006904.6	NP_008835.5:p.(Ala1619Val)	NC_000008.10:g.48794579G>A	(Likely) benign	1 lab	8b7df9ba6c
3:164760962 SI AC>A	3	164760962	164760964	AC	A	SI	c.1888del	NM_001041.4	NP_001032.2:p.(Val630LeufsTer60)	NC_000003.11:g.164760964del	(Likely) benign	1 lab	8b7e4b907e
1:16383742 CLCNKB C>G	1	16383742	16383742	C	G	CLCNKB	c.*331C>G	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16383742C>G	(Likely) benign	1 lab	fc65c0b8a2
10:26417338 MYO3A G>A	10	26417338	26417338	G	A	MYO3A	c.2133G>A	NM_017433.5	NP_059129.3:p.(Leu711=)	NC_000010.10:g.26417338G>A	(Likely) benign	1 lab	8b8114e4fd
X:100611869 BTK A>G	X	100611869	100611869	A	G	BTK	c.1354T>C	NM_001287344.1	NP_001274273.1:p.(Tyr452His)	NC_000023.10:g.100611869A>G	(Likely) benign	1 lab	8b82024b42
X:18913262 PHKA2 G>A	X	18913262	18913262	G	A	PHKA2	c.3330C>T	NM_000292.2	NP_000283.1:p.(Thr1110=)	NC_000023.10:g.18913262G>A	(Likely) benign	1 lab	8b820f06b5
13:35517030 NBEA G>A	13	35517030	35517030	G	A	NBEA	c.73G>A	NM_015678.4	NP_056493.3:p.(Ala25Thr)	NC_000013.10:g.35517030G>A	(Likely) benign	1 lab	8b837e0fcf
16:2546958 TBC1D24 G>A	16	2546958	2546958	G	A	TBC1D24	c.809G>A	NM_001199107.1	NP_001186036.1:p.(Arg270His)	NC_000016.9:g.2546958G>A	(Likely) pathogenic	1 lab	8b849152f4
2:186673441 FSIP2 A>G	2	186673441	186673441	A	G	FSIP2	c.19408A>G	NM_173651.3	NP_775922.3:p.(Ile6470Val)	NC_000002.11:g.186673441A>G	(Likely) benign	1 lab	8b8701a55f
10:79795388 RPS24 T>C	10	79795388	79795388	T	C	RPS24	c.189T>C	NM_001142285.1	NP_001135757.1:p.(His63=)	NC_000010.10:g.79795388T>C	(Likely) benign	1 lab	8b88019260
12:116457030 MED13L T>G	12	116457030	116457030	T	G	MED13L	c.1008A>C	NM_015335.4	NP_056150.1:p.(Leu336=)	NC_000012.11:g.116457030T>G	(Likely) benign	1 lab	8b887e3694
16:65025697 CDH11 T>C	16	65025697	65025697	T	C	CDH11	c.785A>G	NM_001308392.2	NP_001295321.1:p.(Asn262Ser)	NC_000016.9:g.65025697T>C	VUS	1 lab	fc666dde51
22:34157374 LARGE1 A>C	22	34157374	34157374	A	C	LARGE1	c.90T>G	NM_004737.5	NP_004728.1:p.(Phe30Leu)	NC_000022.10:g.34157374A>C	(Likely) benign	1 lab	8b8a1a3a42
X:120181770 GLUD2 G>T	X	120181770	120181770	G	T	GLUD2	c.232G>T	NM_012084.3	NP_036216.2:p.(Ala78Ser)	NC_000023.10:g.120181770G>T	(Likely) benign	1 lab	8b90b6bcb3
X:53115350 TSPYL2 CAATG>C	X	53115350	53115356	CAATG	C	TSPYL2	c.1779_1782del	NM_022117.4	NP_071400.1:p.(Asn593LysfsTer30)	NC_000023.10:g.53115353_53115356del	VUS	1 lab	8b90f129e4
16:81385304 GAN TATG>T	16	81385304	81385311	TATG	T	GAN	c.282+7_282+9del	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81385309_81385311del	(Likely) benign	1 lab	8b91601544
3:38622764 SCN5A G>A	3	38622764	38622764	G	A	SCN5A	c.2886C>T	NM_001099404.1	NP_001092874.1:p.(Ala962=)	NC_000003.11:g.38622764G>A	(Likely) benign	1 lab	8b917caea9
22:30067794 NF2 G>A	22	30067794	30067794	G	A	NF2	c.1000-21G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30067794G>A	(Likely) benign	1 lab	8b91d56ef0
X:38260544 OTC G>A	X	38260544	38260544	G	A	OTC	c.403G>A	NM_000531.5	NP_000522.3:p.(Ala135Thr)	NC_000023.10:g.38260544G>A	(Likely) benign	1 lab	8b92988d2f
12:40702491 LRRK2 T>C	12	40702491	40702491	T	C	LRRK2	c.4182T>C	NM_198578.3	NP_940980.3:p.(Asp1394=)	NC_000012.11:g.40702491T>C	(Likely) benign	1 lab	8b92d42edb
15:77020934 SCAPER A>C	15	77020934	77020934	A	C	SCAPER	c.2183+2T>G	NM_001353009.1	NP_001339938.1:p.?	NC_000015.9:g.77020934A>C	(Likely) pathogenic	1 lab	8b92f39cfc
3:38616821 SCN5A G>A	3	38616821	38616821	G	A	SCN5A	c.3633C>T	NM_001099404.1	NP_001092874.1:p.(Ile1211=)	NC_000003.11:g.38616821G>A	(Likely) benign	1 lab	8b95a38b5e
X:13645328 EGFL6 C>T	X	13645328	13645328	C	T	EGFL6	c.1487C>T	NM_001167890.1	NP_001161362.1:p.(Thr496Met)	NC_000023.10:g.13645328C>T	(Likely) benign	1 lab	8b96d3886f
7:26396725 SNX10 C>T	7	26396725	26396725	C	T	SNX10	c.80C>T	NM_001318198.1	NP_001305127.1:p.(Ala27Val)	NC_000007.13:g.26396725C>T	(Likely) benign	1 lab	8b9757bb56
16:848781 GNG13 G>C	16	848781	848781	G	C	GNG13	c.142C>G	NM_016541.3	NP_057625.1:p.(Leu48Val)	NC_000016.9:g.848781G>C	(Likely) benign	1 lab	8b98369b19
8:134145742 TG C>T	8	134145742	134145742	C	T	TG	c.8026C>T	NM_003235.4	NP_003226.4:p.(Arg2676Trp)	NC_000008.10:g.134145742C>T	VUS	1 lab	8b99a8853b
3:155861029 KCNAB1 C>T	3	155861029	155861029	C	T	KCNAB1	c.62C>T	NM_003471.3	NP_003462.2:p.(Ser21Phe)	NC_000003.11:g.155861029C>T	(Likely) benign	1 lab	8b9c3ea573
8:102570999 GRHL2 G>A	8	102570999	102570999	G	A	GRHL2	c.589G>A	NM_001330593.1	NP_001317522.1:p.(Asp197Asn)	NC_000008.10:g.102570999G>A	VUS	1 lab	8ba07ca66f
21:43274764 PRDM15 G>A	21	43274764	43274764	G	A	PRDM15	c.560C>T	NM_001282934.1	NP_001269863.1:p.(Pro187Leu)	NC_000021.8:g.43274764G>A	(Likely) benign	1 lab	8ba12b9077
X:25031404 ARX A>G	X	25031404	25031404	A	G	ARX	c.708T>C	NM_139058.2	NP_620689.1:p.(Asp236=)	NC_000023.10:g.25031404A>G	(Likely) benign	1 lab	8ba4b3ae4e
16:2138087 TSC2 G>GT	16	2138087	2138088	G	GT	TSC2	c.5108dup	NM_000548.3	NP_000539.2:p.(Ser1704ValfsTer2)	NC_000016.9:g.2138088dup	(Likely) pathogenic	1 lab	8ba66ae6dd
11:709460 EPS8L2 T>TC	11	709460	709463	T	TC	EPS8L2	c.44+12dup	NM_022772.3	NP_073609.2:p.?	NC_000011.9:g.709463dup	(Likely) benign	1 lab	8ba6966513
2:160287419 BAZ2B A>G	2	160287419	160287419	A	G	BAZ2B	c.2143T>C	NM_001289975.1	NP_001276904.1:p.(Phe715Leu)	NC_000002.11:g.160287419A>G	VUS	1 lab	fc6e3df16f
5:137897375 HSPA9 A>T	5	137897375	137897375	A	T	HSPA9	c.1076T>A	NM_004134.7	NP_004125.3:p.(Ile359Asn)	NC_000005.9:g.137897375A>T	VUS	1 lab	fc6f8840ae
16:2129348 TSC2 C>T	16	2129348	2129348	C	T	TSC2	c.3203C>T	NM_000548.3	NP_000539.2:p.(Thr1068Ile)	NC_000016.9:g.2129348C>T	(Likely) pathogenic	1 lab	8ba7b5ac22
X:17745758 NHS A>G	X	17745758	17745758	A	G	NHS	c.3532A>G	NM_001291867.1	NP_001278796.1:p.(Ser1178Gly)	NC_000023.10:g.17745758A>G	(Likely) benign	1 lab	8ba7cb31fe
3:25502750 RARB C>G	3	25502750	25502750	C	G	RARB	c.245C>G	NM_001290216.2	NP_001277145.1:p.(Pro82Arg)	NC_000003.11:g.25502750C>G	VUS	1 lab	8ba7d647e9
2:228147181 COL4A3 T>C	2	228147181	228147181	T	C	COL4A3	c.2589T>C	NM_000091.4	NP_000082.2:p.(His863=)	NC_000002.11:g.228147181T>C	(Likely) benign	1 lab	8baa985a00
19:19308954 RFXANK C>T	19	19308954	19308954	C	T	RFXANK	c.477C>T	NM_003721.2	NP_003712.1:p.(Ser159=)	NC_000019.9:g.19308954C>T	(Likely) benign	1 lab	8baac3642e
11:66456659 SPTBN2 C>T	11	66456659	66456659	C	T	SPTBN2	c.5950-8G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66456659C>T	(Likely) benign	1 lab	8bad099476
1:228462482 OBSCN G>A	1	228462482	228462482	G	A	OBSCN	c.7018G>A	NM_001271223.2	NP_001258152.2:p.(Ala2340Thr)	NC_000001.10:g.228462482G>A	VUS	1 lab	8bb013e4c0
8:3141757 CSMD1 C>T	8	3141757	3141757	C	T	CSMD1	c.4062G>A	NM_033225.6	NP_150094.5:p.(Pro1354=)	NC_000008.10:g.3141757C>T	(Likely) benign	1 lab	8bb17fd08f
1:228505738 OBSCN C>T	1	228505738	228505738	C	T	OBSCN	c.16866C>T	NM_001271223.2	NP_001258152.2:p.(Pro5622=)	NC_000001.10:g.228505738C>T	(Likely) benign	1 lab	8bb22a6f04
20:10386252 MKKS A>G	20	10386252	10386252	A	G	MKKS	c.1356T>C	NM_018848.3	NP_061336.1:p.(Ser452=)	NC_000020.10:g.10386252A>G	(Likely) benign	1 lab	8bb6aac15c
6:132030176 CTAGE9 A>G	6	132030176	132030176	A	G	CTAGE9	c.1982T>C	NM_001145659.1	NP_001139131.1:p.(Met661Thr)	NC_000006.11:g.132030176A>G	(Likely) benign	1 lab	8bb72c0eb7
20:60898654 LAMA5 G>C	20	60898654	60898654	G	C	LAMA5	c.5922C>G	NM_005560.4	NP_005551.3:p.(Asn1974Lys)	NC_000020.10:g.60898654G>C	VUS	1 lab	8bb912a7bb
8:43025833 HGSNAT A>AG	8	43025833	43025838	A	AG	HGSNAT	c.743_743+1insG	NM_152419.2	NP_689632.2:p.?	NC_000008.10:g.43025838dup	(Likely) pathogenic	1 lab	8bb9556220
12:44176133 IRAK4 C>G	12	44176133	44176133	C	G	IRAK4	c.965C>G	NM_001114182.2	NP_001107654.1:p.(Ala322Gly)	NC_000012.11:g.44176133C>G	(Likely) benign	1 lab	8bb9c398ab
16:85697090 GSE1 G>A	16	85697090	85697090	G	A	GSE1	c.2514G>A	NM_014615.4	NP_055430.1:p.(Thr838=)	NC_000016.9:g.85697090G>A	(Likely) benign	1 lab	8bba94d948
3:69167861 LMOD3 A>G	3	69167861	69167861	A	G	LMOD3	c.1645T>C	NM_198271.4	NP_938012.2:p.(Tyr549His)	NC_000003.11:g.69167861A>G	VUS	1 lab	8bbaa743b8
17:29490270 NF1 CA>C	17	29490270	29490271	CA	C	NF1	c.356del	NM_001042492.3	NP_001035957.1:p.(His119LeufsTer46)	NC_000017.10:g.29490271del	(Likely) pathogenic	1 lab	8bbb17a29d
17:42989053 GFAP G>A	17	42989053	42989053	G	A	GFAP	c.893C>T	NM_001363846.1	NP_001350775.1:p.(Ser298Phe)	NC_000017.10:g.42989053G>A	VUS	1 lab	8bbcd2a513
2:121747080 GLI2 G>A	2	121747080	121747080	G	A	GLI2	c.3590G>A	NM_005270.4	NP_005261.2:p.(Gly1197Asp)	NC_000002.11:g.121747080G>A	(Likely) benign	1 lab	8bbdb82f01
11:117244472 CEP164 G>A	11	117244472	117244472	G	A	CEP164	c.1158G>A	NM_014956.4	NP_055771.4:p.(Leu386=)	NC_000011.9:g.117244472G>A	(Likely) benign	1 lab	8bbe7235a0
3:155547665 SLC33A1 T>G	3	155547665	155547665	T	G	SLC33A1	c.1294A>C	NM_004733.3	NP_004724.1:p.(Ile432Leu)	NC_000003.11:g.155547665T>G	(Likely) benign	1 lab	8bbea2d818
9:14770721 FREM1 G>A	9	14770721	14770721	G	A	FREM1	c.4941C>T	NM_144966.5	NP_659403.4:p.(Tyr1647=)	NC_000009.11:g.14770721G>A	(Likely) benign	1 lab	8bbed1f2c1
6:65146162 EYS T>A	6	65146162	65146162	T	A	EYS	c.5836-4A>T	NM_001292009.1	NP_001278938.1:p.?	NC_000006.11:g.65146162T>A	(Likely) benign	1 lab	8bc123ec3f
4:106155936 TET2 C>T	4	106155936	106155936	C	T	TET2	c.837C>T	NM_001127208.2	NP_001120680.1:p.(Thr279=)	NC_000004.11:g.106155936C>T	(Likely) benign	1 lab	8bc14c4c07
X:8138303 VCX2 C>T	X	8138303	8138303	C	T	VCX2	c.190G>A	NM_016378.3	NP_057462.2:p.(Ala64Thr)	NC_000023.10:g.8138303C>T	(Likely) benign	1 lab	8bc1e39f7c
1:207925591 CD46 C>A	1	207925591	207925591	C	A	CD46	c.34C>A	NM_002389.4	NP_002380.3:p.(Pro12Thr)	NC_000001.10:g.207925591C>A	(Likely) benign	1 lab	8bc2bfe92a
1:197073529 ASPM C>T	1	197073529	197073529	C	T	ASPM	c.4852G>A	NM_018136.5	NP_060606.3:p.(Ala1618Thr)	NC_000001.10:g.197073529C>T	VUS	1 lab	fc7146f414
12:2694564 CACNA1C C>G	12	2694564	2694564	C	G	CACNA1C	c.2362C>G	NM_199460.3	NP_955630.3:p.(Gln788Glu)	NC_000012.11:g.2694564C>G	(Likely) benign	1 lab	8bc48acb73
1:161928300 ATF6 C>G	1	161928300	161928300	C	G	ATF6	c.1869C>G	NM_007348.3	NP_031374.2:p.(Thr623=)	NC_000001.10:g.161928300C>G	(Likely) benign	1 lab	8bc603dfde
X:3242372 MXRA5 G>A	X	3242372	3242372	G	A	MXRA5	c.1354C>T	NM_015419.3	NP_056234.2:p.(Leu452=)	NC_000023.10:g.3242372G>A	(Likely) benign	1 lab	8bc643aa1e
1:33487007 AK2 C>T	1	33487007	33487007	C	T	AK2	c.242G>A	NM_001319139.1	NP_001306068.1:p.(Ser81Asn)	NC_000001.10:g.33487007C>T	(Likely) benign	1 lab	8bc6d1cd2f
1:161821519 ATF6 C>G	1	161821519	161821519	C	G	ATF6	c.1327C>G	NM_007348.3	NP_031374.2:p.(His443Asp)	NC_000001.10:g.161821519C>G	(Likely) benign	1 lab	8bc7c34819
20:47256397 PREX1 G>A	20	47256397	47256397	G	A	PREX1	c.3811C>T	NM_020820.4	NP_065871.3:p.(Arg1271Trp)	NC_000020.10:g.47256397G>A	VUS	1 lab	8bc8360924
1:11860120 MTHFR T>C	1	11860120	11860120	T	C	MTHFR	c.709+149A>G	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11860120T>C	(Likely) benign	1 lab	8bc968a8e5
7:2962835 CARD11 G>A	7	2962835	2962835	G	A	CARD11	c.2073C>T	NM_001324281.1	NP_001311210.1:p.(Phe691=)	NC_000007.13:g.2962835G>A	(Likely) benign	1 lab	8bca8df358
11:47367794 MYBPC3 GC>AA	11	47367794	47367795	GC	AA	MYBPC3	c.1053_1054delinsTT	NM_000256.3	NP_000247.2:p.(Arg351_Leu352delinsSerPhe)	NC_000011.9:g.47367794_47367795delinsAA	VUS	1 lab	8bcc6c1337
18:34092418 FHOD3 G>A	18	34092418	34092418	G	A	FHOD3	c.423G>A	NM_001281740.2	NP_001268669.1:p.(Val141=)	NC_000018.9:g.34092418G>A	(Likely) benign	1 lab	8bcd23c775
3:184072080 CLCN2 C>T	3	184072080	184072080	C	T	CLCN2	c.1530G>A	NM_004366.5	NP_004357.3:p.(Ala510=)	NC_000003.11:g.184072080C>T	(Likely) benign	1 lab	8bcdef289b
2:179640530 TTN G>C	2	179640530	179640530	G	C	TTN	c.6061C>G	NM_001267550.1	NP_001254479.1:p.(Arg2021Gly)	NC_000002.11:g.179640530G>C	VUS	1 lab	8bd53ae95b
15:49081190 CEP152 C>G	15	49081190	49081190	C	G	CEP152	c.981G>C	NM_001194998.1	NP_001181927.1:p.(Lys327Asn)	NC_000015.9:g.49081190C>G	VUS	1 lab	8bd5ac4d1e
16:2114403 TSC2 A>G	16	2114403	2114403	A	G	TSC2	c.1574A>G	NM_000548.5	NP_000539.2:p.(Asn525Ser)	NC_000016.9:g.2114403A>G	(Likely) benign	1 lab	fc74896dc8
15:63351861 TPM1 C>T	15	63351861	63351861	C	T	TPM1	c.474C>T	NM_001018005.2	NP_001018005.1:p.(Ala158=)	NC_000015.9:g.63351861C>T	(Likely) benign	1 lab	fc74c28b31
10:43600581 RET G>A	10	43600581	43600581	G	A	RET	c.807G>A	NM_020975.6	NP_066124.1:p.(Ala269=)	NC_000010.10:g.43600581G>A	(Likely) benign	1 lab	fc7729c22e
15:73660594 HCN4 C>A	15	73660594	73660594	C	A	HCN4	c.18G>T	NM_005477.2	NP_005468.1:p.(Pro6=)	NC_000015.9:g.73660594C>A	(Likely) benign	1 lab	8bd7b1ea47
17:29661924 NF1 A>T	17	29661924	29661924	A	T	NF1	c.5818A>T	NM_000267.3	NP_000258.1:p.(Lys1940Ter)	NC_000017.10:g.29661924A>T	(Likely) pathogenic	1 lab	8bd8b1314f
17:39925234 JUP C>T	17	39925234	39925234	C	T	JUP	c.694G>A	NM_002230.4	NP_002221.1:p.(Val232Ile)	NC_000017.10:g.39925234C>T	(Likely) benign	1 lab	fc77a13ade
5:169129414 DOCK2 G>A	5	169129414	169129414	G	A	DOCK2	c.1366G>A	NM_004946.3	NP_004937.1:p.(Asp456Asn)	NC_000005.9:g.169129414G>A	VUS	1 lab	fc7acda2df
21:46930061 COL18A1 G>A	21	46930061	46930061	G	A	COL18A1	c.3570G>A	NM_130445.2	NP_569712.2:p.(Ala1190=)	NC_000021.8:g.46930061G>A	(Likely) benign	1 lab	8bddb3a7c5
11:45832670 SLC35C1 G>A	11	45832670	45832670	G	A	SLC35C1	c.879G>A	NM_018389.4	NP_060859.4:p.(Pro293=)	NC_000011.9:g.45832670G>A	(Likely) benign	1 lab	8bde4b711f
12:56575263 SMARCC2 C>T	12	56575263	56575263	C	T	SMARCC2	c.956+3G>A	NM_001330288.2	NP_001317217.1:p.?	NC_000012.11:g.56575263C>T	VUS	1 lab	8be1066837
19:1817735 REXO1 C>T	19	1817735	1817735	C	T	REXO1	c.3061G>A	NM_020695.4	NP_065746.3:p.(Ala1021Thr)	NC_000019.9:g.1817735C>T	(Likely) benign	1 lab	8be1092711
16:731592 STUB1 G>A	16	731592	731592	G	A	STUB1	c.297G>A	NM_001293197.1	NP_001280126.1:p.(Ala99=)	NC_000016.9:g.731592G>A	(Likely) benign	1 lab	8be3c92aa2
4:126373835 FAT4 C>T	4	126373835	126373835	C	T	FAT4	c.11664C>T	NM_024582.4	NP_078858.4:p.(Cys3888=)	NC_000004.11:g.126373835C>T	(Likely) benign	1 lab	8be4d09e9e
10:112541634 RBM20 G>T	10	112541634	112541634	G	T	RBM20	c.1267G>T	NM_001134363.1	NP_001127835.1:p.(Asp423Tyr)	NC_000010.10:g.112541634G>T	VUS	1 lab	8be5274b4f
7:100282343 GIGYF1 T>C	7	100282343	100282343	T	C	GIGYF1	c.1462+3A>G	NM_022574.5	NP_072096.2:p.?	NC_000007.13:g.100282343T>C	(Likely) benign	1 lab	8be57e9721
11:117869975 IL10RA T>C	11	117869975	117869975	T	C	IL10RA	c.1356T>C	NM_001558.3	NP_001549.2:p.(Cys452=)	NC_000011.9:g.117869975T>C	(Likely) benign	1 lab	8be6cff168
22:32894494 FBXO7 G>T	22	32894494	32894494	G	T	FBXO7	c.1546G>T	NM_012179.3	NP_036311.3:p.(Asp516Tyr)	NC_000022.10:g.32894494G>T	VUS	1 lab	8be7c1467a
X:151869949 MAGEA6 C>T	X	151869949	151869949	C	T	MAGEA6	c.639C>T	NM_175868.2	NP_787064.1:p.(Gly213=)	NC_000023.10:g.151869949C>T	VUS	1 lab	8be9582f74
17:29528481 NF1 C>G	17	29528481	29528481	C	G	NF1	c.1238C>G	NM_000267.3	NP_000258.1:p.(Ser413Ter)	NC_000017.10:g.29528481C>G	(Likely) pathogenic	1 lab	8bef5891e4
13:32905041 BRCA2 CTA>C	13	32905041	32905045	CTA	C	BRCA2	c.682-12_682-11del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905044_32905045del	(Likely) benign	1 lab	8bef91c48b
X:24328985 SUPT20HL2 A>C	X	24328985	24328985	A	C	SUPT20HL2	c.2526T>G	NM_001136233.2	NP_001129705.2:p.(Ala842=)	NC_000023.10:g.24328985A>C	(Likely) benign	1 lab	8bf1b8cdb3
16:2130373 TSC2 C>G	16	2130373	2130373	C	G	TSC2	c.3605C>G	NM_000548.3	NP_000539.2:p.(Pro1202Arg)	NC_000016.9:g.2130373C>G	(Likely) pathogenic	1 lab	8bf45c8e97
16:14820127 NPIPA3 C>T	16	14820127	14820127	C	T	NPIPA3	c.1030C>T	NM_001277323.1	NP_001264252.1:p.(Arg344Trp)	NC_000016.9:g.14820127C>T	VUS	1 lab	8bf4e677d6
19:7589863 MCOLN1 G>C	19	7589863	7589863	G	C	MCOLN1	c.48G>C	NM_020533.2	NP_065394.1:p.(Leu16=)	NC_000019.9:g.7589863G>C	(Likely) benign	1 lab	8bf7d013f3
2:239237868 TRAF3IP1 G>A	2	239237868	239237868	G	A	TRAF3IP1	c.800G>A	NM_015650.3	NP_056465.2:p.(Arg267Gln)	NC_000002.11:g.239237868G>A	VUS	1 lab	8bf80ba278
15:85382988 ALPK3 AT>A	15	85382988	85382990	AT	A	ALPK3	c.480del	NM_020778.5	NP_065829.4:p.(Ile160MetfsTer13)	NC_000015.9:g.85382990del	VUS	1 lab	8bf98cb6ff
3:4715949 ITPR1 T>C	3	4715949	4715949	T	C	ITPR1	c.2475T>C	NM_001168272.1	NP_001161744.1:p.(Phe825=)	NC_000003.11:g.4715949T>C	(Likely) benign	1 lab	8bfa632ec7
16:19619602 VPS35L C>CTT	16	19619602	19619616	C	CTT	VPS35L	c.881+19_881+20dup	NM_020314.6	NP_064710.5:p.?	NC_000016.9:g.19619615_19619616dup	(Likely) benign	1 lab	8bfc4b35d9
14:74975549 LTBP2 A>G	14	74975549	74975549	A	G	LTBP2	c.3510T>C	NM_000428.2	NP_000419.1:p.(Asn1170=)	NC_000014.8:g.74975549A>G	(Likely) benign	1 lab	8bfc7ae413
5:149324134 PDE6A C>T	5	149324134	149324134	C	T	PDE6A	c.103G>A	NM_000440.2	NP_000431.2:p.(Asp35Asn)	NC_000005.9:g.149324134C>T	VUS	1 lab	8bfcecac26
2:197183736 HECW2 G>A	2	197183736	197183736	G	A	HECW2	c.1878C>T	NM_020760.3	NP_065811.1:p.(Ser626=)	NC_000002.11:g.197183736G>A	VUS	1 lab	8bfd111054
1:84876548 DNASE2B G>T	1	84876548	84876548	G	T	DNASE2B	c.413G>T	NM_021233.2	NP_067056.2:p.(Gly138Val)	NC_000001.10:g.84876548G>T	VUS	1 lab	8bfdea8d92
X:10174589 CLCN4 G>A	X	10174589	10174589	G	A	CLCN4	c.747G>A	NM_001830.3	NP_001821.2:p.(Glu249=)	NC_000023.10:g.10174589G>A	(Likely) benign	1 lab	8bfec75c6e
19:49100089 SULT2B1 A>G	19	49100089	49100089	A	G	SULT2B1	c.694A>G	NM_004605.2	NP_004596.2:p.(Ser232Gly)	NC_000019.9:g.49100089A>G	(Likely) benign	1 lab	8c0047958f
6:170159989 ERMARD T>A	6	170159989	170159989	T	A	ERMARD	c.661T>A	NM_018341.2	NP_060811.1:p.(Tyr221Asn)	NC_000006.11:g.170159989T>A	VUS	1 lab	8c00e35f35
17:76423171 DNAH17 C>T	17	76423171	76423171	C	T	DNAH17	c.12607G>A	NM_173628.3	NP_775899.3:p.(Asp4203Asn)	NC_000017.10:g.76423171C>T	VUS	1 lab	8c01fc3698
14:75022218 LTBP2 A>G	14	75022218	75022218	A	G	LTBP2	c.1009T>C	NM_000428.2	NP_000419.1:p.(Ser337Pro)	NC_000014.8:g.75022218A>G	VUS	1 lab	8c024c103d
10:55955466 PCDH15 C>G	10	55955466	55955466	C	G	PCDH15				NC_000010.10:g.55955466C>G	VUS	1 lab	8c03018d4d
16:1464665 UNKL C>G	16	1464665	1464665	C	G	UNKL	c.28G>C	NM_001193388.3	NP_001180317.2:p.(Ala10Pro)	NC_000016.9:g.1464665C>G	(Likely) benign	1 lab	8c033ca5a0
2:238287281 COL6A3 G>A	2	238287281	238287281	G	A	COL6A3	c.2495C>T	NM_004369.3	NP_004360.2:p.(Pro832Leu)	NC_000002.11:g.238287281G>A	(Likely) benign	1 lab	8c03a7bf25
1:6038363 NPHP4 C>A	1	6038363	6038363	C	A	NPHP4	c.246G>T	NM_015102.4	NP_055917.1:p.(Thr82=)	NC_000001.10:g.6038363C>A	(Likely) benign	1 lab	8c05a1b0fa
1:152286158 FLG G>A	1	152286158	152286158	G	A	FLG	c.1204C>T	NM_002016.1	NP_002007.1:p.(Arg402Cys)	NC_000001.10:g.152286158G>A	VUS	1 lab	8c06f45834
13:49039248 RB1 G>A	13	49039248	49039248	G	A	RB1	c.2325+1G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039248G>A	(Likely) pathogenic	1 lab	fc7f3efd5a
8:145006721 PLEC G>A	8	145006721	145006721	G	A	PLEC	c.2235C>T	NM_201380.3	NP_958782.1:p.(Ser745=)	NC_000008.10:g.145006721G>A	(Likely) benign	1 lab	8c080f12ed
X:140996399 MAGEC1 T>C	X	140996399	140996399	T	C	MAGEC1	c.3209T>C	NM_005462.4	NP_005453.2:p.(Leu1070Pro)	NC_000023.10:g.140996399T>C	(Likely) benign	1 lab	8c083c555c
1:24401965 MYOM3 C>A	1	24401965	24401965	C	A	MYOM3	c.2702G>T	NM_152372.4	NP_689585.3:p.(Gly901Val)	NC_000001.10:g.24401965C>A	VUS	1 lab	8c09741768
3:43474174 ANO10 C>T	3	43474174	43474174	C	T	ANO10	c.1843G>A	NM_018075.4	NP_060545.3:p.(Asp615Asn)	NC_000003.11:g.43474174C>T	(Likely) pathogenic	1 lab	8c09dfa924
7:100225900 TFR2 T>C	7	100225900	100225900	T	C	TFR2	c.1420A>G	NM_003227.3	NP_003218.2:p.(Ile474Val)	NC_000007.13:g.100225900T>C	(Likely) benign	1 lab	8c0a63873f
2:98928804 VWA3B A>T	2	98928804	98928804	A	T	VWA3B	c.3877A>T	NM_144992.4	NP_659429.4:p.(Thr1293Ser)	NC_000002.11:g.98928804A>T	(Likely) benign	1 lab	8c0c56dad1
16:70293064 AARS1 T>G	16	70293064	70293064	T	G	AARS1	c.1811A>C	NM_001605.2	NP_001596.2:p.(Asn604Thr)	NC_000016.9:g.70293064T>G	VUS	1 lab	8c0ddaa86c
9:131246306 ODF2 G>C	9	131246306	131246306	G	C	ODF2	c.1005G>C	NM_002540.4	NP_002531.3:p.(Glu335Asp)	NC_000009.11:g.131246306G>C	VUS	1 lab	8c0ee64525
X:77258628 ATP7A T>C	X	77258628	77258628	T	C	ATP7A	c.1602T>C	NM_000052.6	NP_000043.4:p.(Pro534=)	NC_000023.10:g.77258628T>C	(Likely) benign	1 lab	8c135ccdf8
X:91090836 PCDH11X G>A	X	91090836	91090836	G	A	PCDH11X	c.333G>A	NM_032968.4	NP_116750.1:p.(Glu111=)	NC_000023.10:g.91090836G>A	(Likely) benign	1 lab	8c14ca696f
18:42530569 SETBP1 C>T	18	42530569	42530569	C	T	SETBP1	c.1264C>T	NM_015559.3	NP_056374.2:p.(Gln422Ter)	NC_000018.9:g.42530569C>T	(Likely) pathogenic	1 lab	8c14efbc08
16:1612085 IFT140 G>A	16	1612085	1612085	G	A	IFT140	c.2100C>T	NM_014714.3	NP_055529.2:p.(Ser700=)	NC_000016.9:g.1612085G>A	(Likely) benign	1 lab	8c1606cbb2
1:11259655 MTOR G>A	1	11259655	11259655	G	A	MTOR	c.4050C>T	NM_004958.3	NP_004949.1:p.(Ile1350=)	NC_000001.10:g.11259655G>A	(Likely) benign	1 lab	8c17786eac
4:144354745 GAB1 A>G	4	144354745	144354745	A	G	GAB1	c.469A>G	NM_207123.2	NP_997006.1:p.(Thr157Ala)	NC_000004.11:g.144354745A>G	(Likely) benign	1 lab	8c18203d49
15:31214443 FAN1 C>T	15	31214443	31214443	C	T	FAN1	c.2058C>T	NM_014967.4	NP_055782.3:p.(Ala686=)	NC_000015.9:g.31214443C>T	(Likely) benign	1 lab	8c1953ac7c
22:26860209 HPS4 T>C	22	26860209	26860209	T	C	HPS4	c.1387A>G	NM_001349898.1	NP_001336827.1:p.(Arg463Gly)	NC_000022.10:g.26860209T>C	VUS	1 lab	8c1b05cbc6
2:136564845 LCT C>T	2	136564845	136564845	C	T	LCT	c.4026G>A	NM_002299.2	NP_002290.2:p.(Thr1342=)	NC_000002.11:g.136564845C>T	(Likely) benign	1 lab	8c1bdbc1b8
4:88537459 DSPP C>T	4	88537459	88537459	C	T	DSPP	c.3645C>T	NM_014208.3	NP_055023.2:p.(Asp1215=)	NC_000004.11:g.88537459C>T	(Likely) benign	1 lab	8c1d24ddc2
1:85666579 SYDE2 G>A	1	85666579	85666579	G	A	SYDE2	c.101C>T	NM_032184.2	NP_115560.1:p.(Ser34Phe)	NC_000001.10:g.85666579G>A	(Likely) benign	1 lab	8c1e38a236
17:74536236 PRCD C>G	17	74536236	74536236	C	G	PRCD	c.13C>G	NM_001077620.2	NP_001071088.1:p.(Leu5Val)	NC_000017.10:g.74536236C>G	VUS	1 lab	8c1e392ec4
17:8808112 PIK3R5 C>T	17	8808112	8808112	C	T	PIK3R5	c.394G>A	NM_001142633.3	NP_001136105.1:p.(Ala132Thr)	NC_000017.10:g.8808112C>T	VUS	1 lab	fc82046946
10:73461905 CDH23 C>T	10	73461905	73461905	C	T	CDH23	c.2524C>T	NM_022124.5	NP_071407.4:p.(Arg842Trp)	NC_000010.10:g.73461905C>T	(Likely) benign	1 lab	8c20a25b17
2:179413791 TTN A>G	2	179413791	179413791	A	G	TTN	c.92562T>C	NM_001267550.1	NP_001254479.1:p.(Ile30854=)	NC_000002.11:g.179413791A>G	(Likely) benign	1 lab	8c21ab2ad0
9:135772704 TSC1 AC>A	9	135772704	135772706	AC	A	TSC1	c.2841del	NM_000368.5	NP_000359.1:p.(Arg947SerfsTer8)	NC_000009.11:g.135772706del	(Likely) pathogenic	1 lab	8c21ceb812
10:101478185 COX15 G>C	10	101478185	101478185	G	C	COX15	c.905C>G	NM_078470.4	NP_510870.1:p.(Pro302Arg)	NC_000010.10:g.101478185G>C	VUS	1 lab	8c2300f09f
9:123215884 CDK5RAP2 G>A	9	123215884	123215884	G	A	CDK5RAP2	c.2643C>T	NM_018249.5	NP_060719.4:p.(Asp881=)	NC_000009.11:g.123215884G>A	(Likely) benign	1 lab	8c2595c817
2:48033272 MSH6 ATTTTTGTTTTAATTCCT>A	2	48033272	48033308	ATTTTTGTTTTAATTCCT	A	MSH6	c.3647-51_3647-35del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033292_48033308del	(Likely) benign	1 lab	8c25fd05c5
18:67802509 RTTN T>A	18	67802509	67802509	T	A	RTTN	c.2796A>T	NM_173630.3	NP_775901.3:p.(Leu932Phe)	NC_000018.9:g.67802509T>A	(Likely) pathogenic	1 lab	8c26242ea5
9:117810651 TNC G>A	9	117810651	117810651	G	A	TNC	c.4740C>T	NM_002160.3	NP_002151.2:p.(Thr1580=)	NC_000009.11:g.117810651G>A	(Likely) benign	1 lab	8c27347e8d
5:169535300 FOXI1 C>T	5	169535300	169535300	C	T	FOXI1	c.822C>T	NM_012188.4	NP_036320.2:p.(Gly274=)	NC_000005.9:g.169535300C>T	VUS	1 lab	8c273e6059
16:81303855 BCO1 C>G	16	81303855	81303855	C	G	BCO1	c.935C>G	NM_017429.2	NP_059125.2:p.(Ala312Gly)	NC_000016.9:g.81303855C>G	VUS	1 lab	8c277489a9
4:123245629 BLTP1 C>T	4	123245629	123245629	C	T	BLTP1	c.10842C>T	NM_015312.3	NP_056127.2:p.(Tyr3614=)	NC_000004.11:g.123245629C>T	(Likely) benign	1 lab	8c279c9a02
13:25467010 CPAP C>CA	13	25467010	25467022	C	CA	CPAP	c.2992-6dup	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25467022dup	(Likely) benign	1 lab	8c2837bae7
5:65470813 SREK1 G>A	5	65470813	65470813	G	A	SREK1	c.1176G>A	NM_139168.3	NP_631907.1:p.(Ser392=)	NC_000005.9:g.65470813G>A	(Likely) benign	1 lab	8c28a910b8
1:46660332 POMGNT1 A>G	1	46660332	46660332	A	G	POMGNT1	c.653-9T>C	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46660332A>G	(Likely) benign	1 lab	8c29d9a6ad
4:16017812 PROM1 C>G	4	16017812	16017812	C	G	PROM1	c.1027G>C	NM_001145847.1	NP_001139319.1:p.(Asp343His)	NC_000004.11:g.16017812C>G	VUS	1 lab	8c2b851cc3
X:67414311 OPHN1 T>G	X	67414311	67414311	T	G	OPHN1	c.1134A>C	NM_002547.2	NP_002538.1:p.(Gln378His)	NC_000023.10:g.67414311T>G	VUS	1 lab	8c2d2eab04
7:116339605 MET C>T	7	116339605	116339605	C	T	MET	c.467C>T	NM_001127500.1	NP_001120972.1:p.(Ser156Leu)	NC_000007.13:g.116339605C>T	(Likely) benign	1 lab	8c2dc169bc
3:4699967 ITPR1 C>G	3	4699967	4699967	C	G	ITPR1	c.1151+5C>G	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4699967C>G	(Likely) benign	1 lab	8c2e5b9c44
1:161559540 FCGR2C A>G	1	161559540	161559540	A	G	FCGR2C				NC_000001.10:g.161559540A>G	(Likely) benign	1 lab	8c2e8dd072
1:218607677 TGFB2 C>T	1	218607677	218607677	C	T	TGFB2	c.728-3C>T	NM_001135599.3	NP_001129071.1:p.?	NC_000001.10:g.218607677C>T	(Likely) benign	1 lab	8c2f046241
16:88805009 PIEZO1 G>T	16	88805009	88805009	G	T	PIEZO1	c.601C>A	NM_001142864.4	NP_001136336.2:p.(Arg201=)	NC_000016.9:g.88805009G>T	(Likely) benign	1 lab	8c2f580a17
16:16308274 ABCC6 G>A	16	16308274	16308274	G	A	ABCC6	c.507C>T	NM_001171.5	NP_001162.4:p.(Ser169=)	NC_000016.9:g.16308274G>A	(Likely) benign	1 lab	8c30bbf172
9:27056423 IFT74 A>G	9	27056423	27056423	A	G	IFT74	c.1589A>G	NM_001349928.1	NP_001336857.1:p.(Lys530Arg)	NC_000009.11:g.27056423A>G	VUS	1 lab	8c33022f57
6:24658112 TDP2 A>G	6	24658112	24658112	A	G	TDP2	c.445T>C	NM_016614.2	NP_057698.2:p.(Phe149Leu)	NC_000006.11:g.24658112A>G	VUS	1 lab	8c33e24193
3:52548457 STAB1 G>A	3	52548457	52548457	G	A	STAB1	c.3623G>A	NM_015136.3	NP_055951.2:p.(Arg1208His)	NC_000003.11:g.52548457G>A	VUS	1 lab	8c348fbe06
X:49093590 CCDC22 A>G	X	49093590	49093590	A	G	CCDC22	c.88A>G	NM_014008.4	NP_054727.1:p.(Thr30Ala)	NC_000023.10:g.49093590A>G	VUS	1 lab	8c34ab0111
3:50416429 CACNA2D2 G>T	3	50416429	50416429	G	T	CACNA2D2	c.1261-5C>A	NM_001174051.2	NP_001167522.1:p.?	NC_000003.11:g.50416429G>T	(Likely) benign	1 lab	8c34be89c8
9:123912732 CNTRL C>A	9	123912732	123912732	C	A	CNTRL	c.3934C>A	NM_007018.4	NP_008949.4:p.(His1312Asn)	NC_000009.11:g.123912732C>A	VUS	1 lab	8c35a5eb15
6:129637008 LAMA2 G>A	6	129637008	129637008	G	A	LAMA2	c.3837G>A	NM_000426.4	NP_000417.3:p.(Gly1279=)	NC_000006.11:g.129637008G>A	(Likely) benign	1 lab	fc85db68db
X:54012246 PHF8 C>T	X	54012246	54012246	C	T	PHF8	c.2129+3G>A	NM_015107.2	NP_055922.1:p.?	NC_000023.10:g.54012246C>T	(Likely) benign	1 lab	8c35e4f70b
5:90445843 ADGRV1 G>T	5	90445843	90445843	G	T	ADGRV1	c.18433-4G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445843G>T	(Likely) benign	1 lab	8c366b20ed
4:88537243 DSPP C>A	4	88537243	88537243	C	A	DSPP	c.3429C>A	NM_014208.3	NP_055023.2:p.(Asp1143Glu)	NC_000004.11:g.88537243C>A	(Likely) benign	1 lab	fc88d9172e
13:51922467 SERPINE3 C>T	13	51922467	51922467	C	T	SERPINE3	c.819C>T	NM_001101320.1	NP_001094790.1:p.(Ile273=)	NC_000013.10:g.51922467C>T	(Likely) benign	1 lab	8c3b3f64f7
1:204092326 SOX13 C>T	1	204092326	204092326	C	T	SOX13	c.1221C>T	NM_005686.3	NP_005677.2:p.(Cys407=)	NC_000001.10:g.204092326C>T	(Likely) benign	1 lab	8c3b460f18
17:29576126 NF1 T>TAA	17	29576126	29576127	T	TAA	NF1	c.4099_4100insAA	NM_000267.3	NP_000258.1:p.(Cys1367Ter)	NC_000017.10:g.29576126_29576127insAA	(Likely) pathogenic	1 lab	8c3d1325da
10:71144209 HK1 T>C	10	71144209	71144209	T	C	HK1	c.1796T>C	NM_001322365.1	NP_001309294.1:p.(Ile599Thr)	NC_000010.10:g.71144209T>C	(Likely) benign	1 lab	8c3d9cbc7b
5:176831293 F12 A>T	5	176831293	176831293	A	T	F12	c.922T>A	NM_000505.3	NP_000496.2:p.(Ser308Thr)	NC_000005.9:g.176831293A>T	VUS	1 lab	8c3dd7434e
5:37185049 CPLANE1 T>C	5	37185049	37185049	T	C	CPLANE1	c.4322A>G	NM_023073.3	NP_075561.3:p.(Lys1441Arg)	NC_000005.9:g.37185049T>C	(Likely) benign	1 lab	8c3e4bdf2b
1:43891578 SZT2 A>G	1	43891578	43891578	A	G	SZT2	c.2887A>G	NM_015284.3	NP_056099.3:p.(Lys963Glu)	NC_000001.10:g.43891578A>G	(Likely) benign	1 lab	8c3ecba584
1:12476836 VPS13D C>T	1	12476836	12476836	C	T	VPS13D	c.12289C>T	NM_015378.4	NP_056193.2:p.(Leu4097Phe)	NC_000001.10:g.12476836C>T	(Likely) benign	1 lab	8c40f3f77e
2:25965018 ASXL2 C>T	2	25965018	25965018	C	T	ASXL2	c.4188G>A	NM_018263.5	NP_060733.4:p.(Thr1396=)	NC_000002.11:g.25965018C>T	(Likely) benign	1 lab	8c41045670
15:89760506 RLBP1 C>T	15	89760506	89760506	C	T	RLBP1	c.191G>A	NM_000326.4	NP_000317.1:p.(Arg64Gln)	NC_000015.9:g.89760506C>T	(Likely) benign	1 lab	8c41bc7290
2:233345833 ECEL1 C>T	2	233345833	233345833	C	T	ECEL1	c.2023G>A	NM_004826.3	NP_004817.2:p.(Ala675Thr)	NC_000002.11:g.233345833C>T	(Likely) pathogenic	1 lab	8c41c25ecb
X:105197079 NRK C>T	X	105197079	105197079	C	T	NRK	c.4567C>T	NM_198465.3	NP_940867.2:p.(Arg1523Cys)	NC_000023.10:g.105197079C>T	VUS	1 lab	8c44a192b2
17:40477060 STAT3 A>G	17	40477060	40477060	A	G	STAT3	c.1385T>C	NM_139276.2	NP_644805.1:p.(Val462Ala)	NC_000017.10:g.40477060A>G	VUS	1 lab	8c457331c5
X:132838293 GPC3 C>T	X	132838293	132838293	C	T	GPC3	c.1041G>A	NM_001164617.1	NP_001158089.1:p.(Glu347=)	NC_000023.10:g.132838293C>T	(Likely) benign	1 lab	8c46bce56d
7:70255810 AUTS2 A>G	7	70255810	70255810	A	G	AUTS2	c.3536A>G	NM_001127231.2	NP_001120703.1:p.(Asn1179Ser)	NC_000007.13:g.70255810A>G	(Likely) benign	1 lab	8c4882f89b
1:57383376 C8A C>T	1	57383376	57383376	C	T	C8A	c.1742C>T	NM_000562.2	NP_000553.1:p.(Thr581Met)	NC_000001.10:g.57383376C>T	VUS	1 lab	8c48ed11b4
1:150297350 PRPF3 TA>T	1	150297350	150297351	TA	T	PRPF3	c.-48-2del	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297351del	(Likely) benign	1 lab	8c49d291f0
1:228566412 OBSCN C>T	1	228566412	228566412	C	T	OBSCN	c.26688C>T	NM_001271223.2	NP_001258152.2:p.(Thr8896=)	NC_000001.10:g.228566412C>T	(Likely) benign	1 lab	8c4a40f13c
2:179418383 TTN A>G	2	179418383	179418383	A	G	TTN	c.89349T>C	NM_001267550.2	NP_001254479.2:p.(Thr29783=)	NC_000002.11:g.179418383A>G	(Likely) benign	1 lab	fc8a60d467
10:73406342 CDH23 G>A	10	73406342	73406342	G	A	CDH23	c.1417G>A	NM_022124.5	NP_071407.4:p.(Val473Ile)	NC_000010.10:g.73406342G>A	VUS	1 lab	8c4b629fa2
7:73452037 ELN C>A	7	73452037	73452037	C	A	ELN	c.164C>A	NM_001278939.1	NP_001265868.1:p.(Ala55Glu)	NC_000007.13:g.73452037C>A	VUS	1 lab	8c4d46f7d6
1:215960130 USH2A G>A	1	215960130	215960130	G	A	USH2A	c.10269C>T	NM_206933.2	NP_996816.2:p.(His3423=)	NC_000001.10:g.215960130G>A	(Likely) benign	1 lab	8c4e213da8
10:73572350 CDH23 G>GC	10	73572350	73572354	G	GC	CDH23	c.9498dup	NM_022124.5	NP_071407.4:p.(Thr3167HisfsTer10)	NC_000010.10:g.73572354dup	(Likely) pathogenic	1 lab	8c4ee5eccc
11:108178655 ATM T>TA	11	108178655	108178661	T	TA	ATM	c.5712dup	NM_000051.3	NP_000042.3:p.(Ser1905IlefsTer25)	NC_000011.9:g.108178661dup	(Likely) pathogenic	1 lab	8c4fe92a10
17:29683586 NF1 CTG>C	17	29683586	29683588	CTG	C	NF1	c.7725_7726del	NM_001042492.3	NP_001035957.1:p.(Asp2576LeufsTer2)	NC_000017.10:g.29683587_29683588del	(Likely) pathogenic	1 lab	8c524b5692
20:57428898 GNAS G>A	20	57428898	57428898	G	A	GNAS	c.391G>A	NM_001077490.2	NP_001070958.1:p.(Gly131Arg)	NC_000020.10:g.57428898G>A	VUS	1 lab	8c53c5e64f
16:68710341 CDH3 G>A	16	68710341	68710341	G	A	CDH3	c.214G>A	NM_001317195.1	NP_001304124.1:p.(Asp72Asn)	NC_000016.9:g.68710341G>A	(Likely) benign	1 lab	8c5529bde8
17:78169447 CARD14 G>A	17	78169447	78169447	G	A	CARD14	c.1590G>A	NM_001366385.1	NP_001353314.1:p.(Thr530=)	NC_000017.10:g.78169447G>A	(Likely) benign	1 lab	8c567010ac
12:125470777 DHX37 G>A	12	125470777	125470777	G	A	DHX37	c.141C>T	NM_032656.4	NP_116045.2:p.(Asn47=)	NC_000012.11:g.125470777G>A	(Likely) benign	1 lab	8c56acc069
11:82877530 PCF11 A>G	11	82877530	82877530	A	G	PCF11	c.1591A>G	NM_015885.3	NP_056969.2:p.(Met531Val)	NC_000011.9:g.82877530A>G	(Likely) benign	1 lab	8c5777ab89
5:146030292 PPP2R2B GA>G	5	146030292	146030293	GA	G	PPP2R2B	c.448-6del	NM_181675.4	NP_858061.3:p.?	NC_000005.9:g.146030293del	(Likely) benign	1 lab	8c57d9ad58
19:2250374 AMH C>T	19	2250374	2250374	C	T	AMH	c.451C>T	NM_000479.4	NP_000470.2:p.(Pro151Ser)	NC_000019.9:g.2250374C>T	VUS	1 lab	8c580304bf
10:73544680 CDH23 C>T	10	73544680	73544680	C	T	CDH23	c.5535C>T	NM_022124.5	NP_071407.4:p.(Asn1845=)	NC_000010.10:g.73544680C>T	(Likely) benign	1 lab	8c58126c8f
19:19788795 ZNF101 G>A	19	19788795	19788795	G	A	ZNF101	c.126G>A	NM_033204.4	NP_149981.2:p.(Ser42=)	NC_000019.9:g.19788795G>A	(Likely) benign	1 lab	8c58c6b5f9
20:17639399 MISSING T>C	20	17639399	17639399	T	C	MISSING				NC_000020.10:g.17639399T>C	(Likely) benign	1 lab	8c5c0338f6
3:145803142 PLOD2 T>A	3	145803142	145803142	T	A	PLOD2	c.1128-82A>T	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145803142T>A	(Likely) benign	1 lab	fc8c27b354
16:2140923 PKD1 C>T	16	2140923	2140923	C	T	PKD1	c.11965G>A	NM_001009944.2	NP_001009944.2:p.(Gly3989Ser)	NC_000016.9:g.2140923C>T	(Likely) benign	1 lab	8c5c68da0d
7:33014949 FKBP9 G>A	7	33014949	33014949	G	A	FKBP9	c.682G>A	NM_001284341.1	NP_001271270.1:p.(Gly228Arg)	NC_000007.13:g.33014949G>A	VUS	1 lab	8c5e3022cb
16:2100432 TSC2 GC>G	16	2100432	2100433	GC	G	TSC2	c.171del	NM_000548.5	NP_000539.2:p.(Ile58SerfsTer3)	NC_000016.9:g.2100433del	(Likely) pathogenic	1 lab	8c60775df9
10:74326433 MICU1 C>T	10	74326433	74326433	C	T	MICU1	c.119G>A	NM_001363513.1	NP_001350442.1:p.(Gly40Glu)	NC_000010.10:g.74326433C>T	VUS	1 lab	8c607f32fd
12:49443010 KMT2D A>C	12	49443010	49443010	A	C	KMT2D	c.3907-9T>G	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49443010A>C	(Likely) benign	1 lab	8c608133f2
X:129149189 BCORL1 AT>A	X	129149189	129149190	AT	A	BCORL1	c.2442del	NM_001379451.1	NP_001366380.1:p.(Arg816GlyfsTer37)	NC_000023.10:g.129149190del	VUS	1 lab	8c609a55f5
19:17947972 JAK3 G>A	19	17947972	17947972	G	A	JAK3	c.1752C>T	NM_000215.3	NP_000206.2:p.(Leu584=)	NC_000019.9:g.17947972G>A	(Likely) benign	1 lab	8c62e88af3
5:169127100 DOCK2 C>T	5	169127100	169127100	C	T	DOCK2	c.1215C>T	NM_004946.3	NP_004937.1:p.(Thr405=)	NC_000005.9:g.169127100C>T	(Likely) benign	1 lab	8c6536972e
2:55906928 PNPT1 C>A	2	55906928	55906928	C	A	PNPT1	c.568G>T	NM_033109.4	NP_149100.2:p.(Ala190Ser)	NC_000002.11:g.55906928C>A	VUS	1 lab	8c670dfba0
9:94499770 ROR2 C>T	9	94499770	94499770	C	T	ROR2	c.525G>A	NM_004560.3	NP_004551.2:p.(Gln175=)	NC_000009.11:g.94499770C>T	(Likely) benign	1 lab	8c671e243e
22:18566466 PEX26 G>T	22	18566466	18566466	G	T	PEX26	c.635G>T	NM_001127649.3	NP_001121121.1:p.(Gly212Val)	NC_000022.10:g.18566466G>T	VUS	1 lab	fc921d8c42
20:57429067 GNAS C>A	20	57429067	57429067	C	A	GNAS	c.560C>A	NM_001077490.2	NP_001070958.1:p.(Ser187Ter)	NC_000020.10:g.57429067C>A	(Likely) pathogenic	1 lab	8c67aead17
14:35871275 NFKBIA A>C	14	35871275	35871275	A	C	NFKBIA	c.907-9T>G	NM_020529.2	NP_065390.1:p.?	NC_000014.8:g.35871275A>C	(Likely) benign	1 lab	8c67f22670
19:12769085 MAN2B1 G>A	19	12769085	12769085	G	A	MAN2B1	c.1183C>T	NM_000528.3	NP_000519.2:p.(Arg395Trp)	NC_000019.9:g.12769085G>A	VUS	1 lab	8c682551d4
7:144061149 ARHGEF5 A>G	7	144061149	144061149	A	G	ARHGEF5	c.1387A>G	NM_005435.4	NP_005426.2:p.(Ile463Val)	NC_000007.13:g.144061149A>G	(Likely) benign	1 lab	8c683c1df8
12:56557536 SMARCC2 G>C	12	56557536	56557536	G	C	SMARCC2	c.3675C>G	NM_001330288.2	NP_001317217.1:p.(Pro1225=)	NC_000012.11:g.56557536G>C	(Likely) benign	1 lab	8c68851be9
X:45010900 DIPK2B G>A	X	45010900	45010900	G	A	DIPK2B	c.1299C>T	NM_176819.4	NP_789789.2:p.(Phe433=)	NC_000023.10:g.45010900G>A	(Likely) benign	1 lab	8c6a1a7c9d
1:11860458 MTHFR C>T	1	11860458	11860458	C	T	MTHFR	c.599-79G>A	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11860458C>T	(Likely) benign	1 lab	8c6a1b1c46
5:89988579 ADGRV1 G>T	5	89988579	89988579	G	T	ADGRV1	c.7109G>T	NM_032119.4	NP_115495.3:p.(Cys2370Phe)	NC_000005.9:g.89988579G>T	VUS	1 lab	8c6b39e5ab
11:587352 PHRF1 A>G	11	587352	587352	A	G	PHRF1	c.308A>G	NM_020901.3	NP_065952.2:p.(Asp103Gly)	NC_000011.9:g.587352A>G	VUS	1 lab	8d2bd367fe
5:176829467 F12 C>T	5	176829467	176829467	C	T	F12	c.1681-7G>A	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176829467C>T	(Likely) benign	1 lab	8c6c975dff
X:54496574 FGD1 C>T	X	54496574	54496574	C	T	FGD1	c.976G>A	NM_004463.2	NP_004454.2:p.(Asp326Asn)	NC_000023.10:g.54496574C>T	(Likely) benign	1 lab	8c6d156028
8:126091074 WASHC5 T>C	8	126091074	126091074	T	C	WASHC5	c.617A>G	NM_014846.3	NP_055661.3:p.(Asn206Ser)	NC_000008.10:g.126091074T>C	(Likely) benign	1 lab	8c6dd19498
6:160114157 SOD2 C>G	6	160114157	160114157	C	G	SOD2	c.23+20G>C	NM_000636.4	NP_000627.2:p.?	NC_000006.11:g.160114157C>G	(Likely) benign	1 lab	fc947a1eb1
15:51790838 DMXL2 CG>C	15	51790838	51790841	CG	C	DMXL2	c.4582del	NM_001378457.1	NP_001365386.1:p.(Arg1528ValfsTer8)	NC_000015.9:g.51790841del	VUS	1 lab	8c6ee9ba94
3:69998210 MITF C>A	3	69998210	69998210	C	A	MITF	c.720C>A	NM_001354607.1	NP_001341536.1:p.(Val240=)	NC_000003.11:g.69998210C>A	(Likely) benign	1 lab	8c6f11593f
11:67811787 TCIRG1 G>A	11	67811787	67811787	G	A	TCIRG1				NC_000011.9:g.67811787G>A	(Likely) benign	1 lab	8c7386a9c6
20:47570259 ARFGEF2 G>A	20	47570259	47570259	G	A	ARFGEF2	c.770G>A	NM_006420.2	NP_006411.2:p.(Arg257Lys)	NC_000020.10:g.47570259G>A	(Likely) benign	1 lab	8c7420036b
1:7724028 CAMTA1 G>A	1	7724028	7724028	G	A	CAMTA1	c.1421G>A	NM_015215.3	NP_056030.1:p.(Arg474Gln)	NC_000001.10:g.7724028G>A	(Likely) benign	1 lab	8c74303385
8:61769032 CHD7 G>A	8	61769032	61769032	G	A	CHD7				NC_000008.10:g.61769032G>A	VUS	1 lab	8c74d3f7f0
2:179469435 TTN C>T	2	179469435	179469435	C	T	TTN	c.54381G>A	NM_001267550.1	NP_001254479.1:p.(Gly18127=)	NC_000002.11:g.179469435C>T	VUS	1 lab	8c795f61bc
15:65472497 CLPX C>G	15	65472497	65472497	C	G	CLPX	c.125G>C	NM_006660.5	NP_006651.2:p.(Gly42Ala)	NC_000015.9:g.65472497C>G	(Likely) benign	1 lab	8c7c296593
4:47944084 CNGA1 C>T	4	47944084	47944084	C	T	CNGA1	c.738G>A	NM_001142564.1	NP_001136036.1:p.(Met246Ile)	NC_000004.11:g.47944084C>T	VUS	1 lab	8c7c5bc39a
7:75643103 STYXL1 G>A	7	75643103	75643103	G	A	STYXL1	c.410C>T	NM_016086.2	NP_057170.1:p.(Thr137Met)	NC_000007.13:g.75643103G>A	(Likely) benign	1 lab	8c7f423b7a
X:152085681 ZNF185 G>A	X	152085681	152085681	G	A	ZNF185	c.231G>A	NM_001178106.1	NP_001171577.1:p.(Pro77=)	NC_000023.10:g.152085681G>A	(Likely) benign	1 lab	8c7f5e9c76
12:91552082 DCN T>A	12	91552082	91552082	T	A	DCN	c.529A>T	NM_001920.4	NP_001911.1:p.(Ile177Phe)	NC_000012.11:g.91552082T>A	(Likely) benign	1 lab	8c80de510e
19:42259552 CEACAM6 A>AC	19	42259552	42259558	A	AC	CEACAM6	c.12dup	NM_002483.7	NP_002474.4:p.(Ser5LeufsTer35)	NC_000019.9:g.42259558dup	VUS	1 lab	8c816934e7
2:136575505 LCT C>G	2	136575505	136575505	C	G	LCT	c.1113G>C	NM_002299.2	NP_002290.2:p.(Arg371Ser)	NC_000002.11:g.136575505C>G	(Likely) benign	1 lab	8c82c40a8d
2:98349376 ZAP70 C>T	2	98349376	98349376	C	T	ZAP70	c.594C>T	NM_001079.3	NP_001070.2:p.(Tyr198=)	NC_000002.11:g.98349376C>T	(Likely) benign	1 lab	8c85c29b92
X:118223586 KIAA1210 C>T	X	118223586	118223586	C	T	KIAA1210	c.1607G>A	NM_020721.1	NP_065772.1:p.(Arg536Lys)	NC_000023.10:g.118223586C>T	(Likely) benign	1 lab	8c87028f2e
X:48121199 SSX1 A>G	X	48121199	48121199	A	G	SSX1	c.281-2A>G	NM_001278691.1	NP_001265620.1:p.?	NC_000023.10:g.48121199A>G	VUS	1 lab	8c872d707a
18:67671479 RTTN T>C	18	67671479	67671479	T	C	RTTN	c.6596-7A>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67671479T>C	(Likely) benign	1 lab	8c87f0fead
3:38622693 SCN5A C>T	3	38622693	38622693	C	T	SCN5A	c.2957G>A	NM_001099404.1	NP_001092874.1:p.(Arg986Gln)	NC_000003.11:g.38622693C>T	(Likely) benign	1 lab	8c881afdbd
9:133963173 LAMC3 C>T	9	133963173	133963173	C	T	LAMC3	c.4446C>T	NM_006059.3	NP_006050.3:p.(Ile1482=)	NC_000009.11:g.133963173C>T	(Likely) benign	1 lab	8c8a2e94ab
1:57378167 C8A T>C	1	57378167	57378167	T	C	C8A	c.1472T>C	NM_000562.2	NP_000553.1:p.(Leu491Pro)	NC_000001.10:g.57378167T>C	VUS	1 lab	8c8bdc1400
8:61693696 CHD7 G>GA	8	61693696	61693701	G	GA	CHD7	c.1808dup	NM_017780.2	NP_060250.2:p.(Asn603LysfsTer11)	NC_000008.10:g.61693701dup	(Likely) pathogenic	1 lab	8c8c906fe9
19:56041563 SBK2 G>A	19	56041563	56041563	G	A	SBK2	c.584C>T	NM_001101401.2	NP_001094871.2:p.(Ala195Val)	NC_000019.9:g.56041563G>A	(Likely) benign	1 lab	8c92c751f7
5:70751781 BDP1 A>G	5	70751781	70751781	A	G	BDP1	c.77A>G	NM_018429.2	NP_060899.2:p.(Asn26Ser)	NC_000005.9:g.70751781A>G	(Likely) benign	1 lab	8c934a814d
22:36718516 MYH9 G>A	22	36718516	36718516	G	A	MYH9	c.663C>T	NM_002473.5	NP_002464.1:p.(Phe221=)	NC_000022.10:g.36718516G>A	(Likely) benign	1 lab	8c96d90c95
17:78092149 GAA C>A	17	78092149	78092149	C	A	GAA	c.2639C>A	NM_000152.3	NP_000143.2:p.(Ala880Asp)	NC_000017.10:g.78092149C>A	(Likely) pathogenic	1 lab	8c9836ed53
18:67795689 RTTN C>T	18	67795689	67795689	C	T	RTTN	c.3048G>A	NM_173630.3	NP_775901.3:p.(Pro1016=)	NC_000018.9:g.67795689C>T	(Likely) benign	1 lab	8c985131e0
X:148584850 IDS A>G	X	148584850	148584850	A	G	IDS	c.410T>C	NM_000202.7	NP_000193.1:p.(Phe137Ser)	NC_000023.10:g.148584850A>G	(Likely) pathogenic	1 lab	8c9a007711
16:28884953 SH2B1 G>A	16	28884953	28884953	G	A	SH2B1	c.2083G>A	NM_001308293.1	NP_001295222.1:p.(Val695Met)	NC_000016.9:g.28884953G>A	(Likely) benign	1 lab	8c9a36708e
16:67670673 CTCF C>T	16	67670673	67670673	C	T	CTCF	c.1918C>T	NM_006565.3	NP_006556.1:p.(Pro640Ser)	NC_000016.9:g.67670673C>T	VUS	1 lab	8c9ad1328e
19:7607475 PNPLA6 C>T	19	7607475	7607475	C	T	PNPLA6	c.1308C>T	NM_001166111.1	NP_001159583.1:p.(Phe436=)	NC_000019.9:g.7607475C>T	(Likely) benign	1 lab	8c9cf7decb
16:14306227 MRTFB G>T	16	14306227	14306227	G	T	MRTFB	c.237G>T	NM_001308142.1	NP_001295071.1:p.(Ala79=)	NC_000016.9:g.14306227G>T	(Likely) benign	1 lab	8c9e704ae9
7:31904610 PDE1C G>A	7	31904610	31904610	G	A	PDE1C	c.876C>T	NM_001322058.1	NP_001308987.1:p.(His292=)	NC_000007.13:g.31904610G>A	(Likely) benign	1 lab	8c9e8ab444
13:28599077 FLT3 C>G	13	28599077	28599077	C	G	FLT3	c.2211G>C	NM_004119.2	NP_004110.2:p.(Met737Ile)	NC_000013.10:g.28599077C>G	(Likely) benign	1 lab	8c9ecd413c
21:47858115 PCNT C>T	21	47858115	47858115	C	T	PCNT	c.9138C>T	NM_006031.5	NP_006022.3:p.(Asp3046=)	NC_000021.8:g.47858115C>T	(Likely) benign	1 lab	8c9f144a8c
12:53070137 KRT1 T>C	12	53070137	53070137	T	C	KRT1	c.1397A>G	NM_006121.3	NP_006112.3:p.(Gln466Arg)	NC_000012.11:g.53070137T>C	VUS	1 lab	8ca0d82793
12:49426050 KMT2D C>T	12	49426050	49426050	C	T	KMT2D	c.12438G>A	NM_003482.3	NP_003473.3:p.(Gly4146=)	NC_000012.11:g.49426050C>T	(Likely) benign	1 lab	8ca0dd57b3
X:47030473 RBM10 G>A	X	47030473	47030473	G	A	RBM10	c.443G>A	NM_001204468.1	NP_001191397.1:p.(Arg148Gln)	NC_000023.10:g.47030473G>A	(Likely) benign	1 lab	8ca1774642
12:49579753 TUBA1A G>A	12	49579753	49579753	G	A	TUBA1A	c.396C>T	NM_006009.3	NP_006000.2:p.(Leu132=)	NC_000012.11:g.49579753G>A	(Likely) benign	1 lab	8ca2093fa1
7:21775270 DNAH11 C>T	7	21775270	21775270	C	T	DNAH11				NC_000007.13:g.21775270C>T	VUS	1 lab	8ca2cbb781
7:87032541 ABCB4 C>T	7	87032541	87032541	C	T	ABCB4	c.3564G>A	NM_018849.2	NP_061337.1:p.(Gln1188=)	NC_000007.13:g.87032541C>T	(Likely) benign	1 lab	8ca2fc0c6b
X:25014055 POLA1 C>T	X	25014055	25014055	C	T	POLA1	c.4377C>T	NM_016937.3	NP_058633.2:p.(Ala1459=)	NC_000023.10:g.25014055C>T	(Likely) benign	1 lab	8ca303e7d2
2:179457697 TTN C>T	2	179457697	179457697	C	T	TTN	c.59149G>A	NM_001267550.1	NP_001254479.1:p.(Val19717Ile)	NC_000002.11:g.179457697C>T	VUS	1 lab	8ca36a21b7
6:16327335 ATXN1 G>A	6	16327335	16327335	G	A	ATXN1	c.1207C>T	NM_000332.3	NP_000323.2:p.(Arg403Cys)	NC_000006.11:g.16327335G>A	(Likely) benign	1 lab	8ca41f1135
17:29654844 NF1 GA>G	17	29654844	29654845	GA	G	NF1	c.5597del	NM_001042492.3	NP_001035957.1:p.(Asp1866AlafsTer15)	NC_000017.10:g.29654845del	(Likely) pathogenic	1 lab	8ca6c6707d
11:9165715 DENND5A C>T	11	9165715	9165715	C	T	DENND5A	c.2945G>A	NM_001348750.1	NP_001335679.1:p.(Arg982Gln)	NC_000011.9:g.9165715C>T	(Likely) benign	1 lab	8ca6d7153a
16:66919273 PDP2 C>T	16	66919273	66919273	C	T	PDP2	c.1086C>T	NM_001329928.1	NP_001316857.1:p.(Ser362=)	NC_000016.9:g.66919273C>T	(Likely) benign	1 lab	8ca70b91e6
12:1137266 ERC1 A>G	12	1137266	1137266	A	G	ERC1	c.197A>G	NM_178040.4	NP_829884.1:p.(Tyr66Cys)	NC_000012.11:g.1137266A>G	VUS	1 lab	8ca7b89dc2
7:94057039 COL1A2 G>A	7	94057039	94057039	G	A	COL1A2	c.3368G>A	NM_000089.3	NP_000080.2:p.(Arg1123His)	NC_000007.13:g.94057039G>A	VUS	1 lab	8ca84f2b4f
13:51530547 RNASEH2B T>G	13	51530547	51530547	T	G	RNASEH2B	c.876T>G	NM_024570.3	NP_078846.2:p.(Ser292Arg)	NC_000013.10:g.51530547T>G	VUS	1 lab	8caa82caeb
X:123197716 STAG2 C>T	X	123197716	123197716	C	T	STAG2	c.1840C>T	NM_001042749.2	NP_001036214.1:p.(Arg614Ter)	NC_000023.10:g.123197716C>T	(Likely) pathogenic	1 lab	fc9d1d3fef
19:36216484 KMT2B C>T	19	36216484	36216484	C	T	KMT2B	c.3747C>T	NM_014727.2	NP_055542.1:p.(Cys1249=)	NC_000019.9:g.36216484C>T	(Likely) benign	1 lab	8cab0d88c4
4:184607796 TRAPPC11 C>T	4	184607796	184607796	C	T	TRAPPC11	c.1788C>T	NM_021942.5	NP_068761.4:p.(Ala596=)	NC_000004.11:g.184607796C>T	(Likely) benign	1 lab	8cab817082
17:12608471 MYOCD A>G	17	12608471	12608471	A	G	MYOCD	c.82A>G	NM_001146312.2	NP_001139784.1:p.(Arg28Gly)	NC_000017.10:g.12608471A>G	VUS	1 lab	8cac25115a
1:207499060 CD55 A>T	1	207499060	207499060	A	T	CD55	c.572A>T	NM_001114752.2	NP_001108224.1:p.(Asn191Ile)	NC_000001.10:g.207499060A>T	VUS	1 lab	8caf18611b
10:85978953 CDHR1 A>C	10	85978953	85978953	A	C	CDHR1	c.2159A>C	NM_001171971.2	NP_001165442.1:p.(His720Pro)	NC_000010.10:g.85978953A>C	VUS	1 lab	8cb1709117
3:195512407 MUC4 G>C	3	195512407	195512407	G	C	MUC4	c.6044C>G	NM_018406.6	NP_060876.5:p.(Thr2015Ser)	NC_000003.11:g.195512407G>C	(Likely) benign	1 lab	8cb1d0deff
16:84211465 DNAAF1 T>C	16	84211465	84211465	T	C	DNAAF1	c.*18T>C	NM_178452.5	NP_848547.4:p.?	NC_000016.9:g.84211465T>C	(Likely) benign	1 lab	8cb2465494
12:8757442 AICDA A>G	12	8757442	8757442	A	G	AICDA	c.504T>C	NM_020661.2	NP_065712.1:p.(Asn168=)	NC_000012.11:g.8757442A>G	(Likely) benign	1 lab	8cb2f5918e
15:48056050 SEMA6D G>A	15	48056050	48056050	G	A	SEMA6D	c.751G>A	NM_153618.1	NP_705871.1:p.(Val251Met)	NC_000015.9:g.48056050G>A	VUS	1 lab	8cb3c017a7
22:50664767 TUBGCP6 C>T	22	50664767	50664767	C	T	TUBGCP6	c.1642G>A	NM_020461.3	NP_065194.2:p.(Ala548Thr)	NC_000022.10:g.50664767C>T	(Likely) benign	1 lab	8cb4155693
1:103379908 COL11A1 T>C	1	103379908	103379908	T	C	COL11A1	c.4014A>G	NM_080629.2	NP_542196.2:p.(Ala1338=)	NC_000001.10:g.103379908T>C	(Likely) benign	1 lab	8cb48666ec
18:43534397 EPG5 C>T	18	43534397	43534397	C	T	EPG5	c.971G>A	NM_020964.3	NP_066015.2:p.(Arg324Gln)	NC_000018.9:g.43534397C>T	VUS	1 lab	8cb572b849
7:1024673 CYP2W1 C>T	7	1024673	1024673	C	T	CYP2W1	c.425C>T	NM_017781.2	NP_060251.2:p.(Pro142Leu)	NC_000007.13:g.1024673C>T	VUS	1 lab	8cb5f5bded
1:150053397 VPS45 C>CT	1	150053397	150053406	C	CT	VPS45	c.373-18dup	NM_001279353.1	NP_001266282.1:p.?	NC_000001.10:g.150053406dup	(Likely) benign	1 lab	8cb6fb6160
X:153594754 FLNA CTT>C	X	153594754	153594757	CTT	C	FLNA	c.1148_1149del	NM_001110556.2	NP_001104026.1:p.(Lys383SerfsTer22)	NC_000023.10:g.153594756_153594757del	(Likely) pathogenic	1 lab	8cb8c8ee7c
17:79479139 ACTG1 G>A	17	79479139	79479139	G	A	ACTG1	c.153C>T	NM_001199954.2	NP_001186883.1:p.(Asp51=)	NC_000017.10:g.79479139G>A	(Likely) benign	1 lab	8cb9606700
19:38385169 WDR87 C>G	19	38385169	38385169	C	G	WDR87	c.1174G>C	NM_001291088.1	NP_001278017.1:p.(Val392Leu)	NC_000019.9:g.38385169C>G	(Likely) benign	1 lab	8cbac9f2c0
X:148628290 EOLA1 G>A	X	148628290	148628290	G	A	EOLA1	c.259G>A	NM_001324276.1	NP_001311205.1:p.(Val87Ile)	NC_000023.10:g.148628290G>A	(Likely) benign	1 lab	8cbaf0ede1
17:42426845 GRN G>A	17	42426845	42426845	G	A	GRN	c.190G>A	NM_002087.2	NP_002078.1:p.(Asp64Asn)	NC_000017.10:g.42426845G>A	VUS	1 lab	8cbc91cbb0
19:1469008 APC2 C>T	19	1469008	1469008	C	T	APC2	c.5708C>T	NM_005883.2	NP_005874.1:p.(Pro1903Leu)	NC_000019.9:g.1469008C>T	(Likely) benign	1 lab	8cbe7695ce
5:68715388 MARVELD2 C>T	5	68715388	68715388	C	T	MARVELD2	c.176C>T	NM_001038603.2	NP_001033692.2:p.(Pro59Leu)	NC_000005.9:g.68715388C>T	VUS	1 lab	8cc1c2eb6f
16:2132493 TSC2 G>A	16	2132493	2132493	G	A	TSC2	c.3871G>A	NM_000548.3	NP_000539.2:p.(Val1291Ile)	NC_000016.9:g.2132493G>A	(Likely) benign	1 lab	8cc1e8da60
17:29665147 NF1 T>TA	17	29665147	29665148	T	TA	NF1	c.6746_6747insA	NM_000267.3	NP_000258.1:p.(Leu2250SerfsTer2)	NC_000017.10:g.29665147_29665148insA	(Likely) pathogenic	1 lab	8cc261d044
2:27589933 EIF2B4 G>A	2	27589933	27589933	G	A	EIF2B4	c.968+8C>T	NM_001318966.1	NP_001305895.1:p.?	NC_000002.11:g.27589933G>A	(Likely) benign	1 lab	8cc29d0c07
7:20685450 ABCB5 G>A	7	20685450	20685450	G	A	ABCB5	c.750G>A	NM_001163941.1	NP_001157413.1:p.(Leu250=)	NC_000007.13:g.20685450G>A	(Likely) benign	1 lab	8cc2b7f9c9
15:38803930 RASGRP1 CAG>C	15	38803930	38803933	CAG	C	RASGRP1	c.850-11_850-10del	NM_005739.4	NP_005730.2:p.?	NC_000015.9:g.38803932_38803933del	(Likely) benign	1 lab	8cc44fec76
19:52496274 ZNF615 G>A	19	52496274	52496274	G	A	ZNF615	c.2088C>T	NM_001199324.2	NP_001186253.1:p.(Cys696=)	NC_000019.9:g.52496274G>A	(Likely) benign	1 lab	8cc7bdb64a
19:45858114 ERCC2 A>G	19	45858114	45858114	A	G	ERCC2	c.1544-5T>C	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45858114A>G	(Likely) benign	1 lab	8cc7e3cbf5
9:98221957 PTCH1 G>A	9	98221957	98221957	G	A	PTCH1	c.2614C>T	NM_001083602.1	NP_001077071.1:p.(Gln872Ter)	NC_000009.11:g.98221957G>A	(Likely) pathogenic	1 lab	8cc8338668
11:117859199 IL10RA A>G	11	117859199	117859199	A	G	IL10RA	c.170A>G	NM_001558.3	NP_001549.2:p.(Tyr57Cys)	NC_000011.9:g.117859199A>G	(Likely) pathogenic	1 lab	8cc8517625
1:216073470 USH2A T>C	1	216073470	216073470	T	C	USH2A	c.7541A>G	NM_206933.2	NP_996816.2:p.(Asn2514Ser)	NC_000001.10:g.216073470T>C	VUS	1 lab	8cc9a27489
6:169064783 SMOC2 A>G	6	169064783	169064783	A	G	SMOC2	c.1348A>G	NM_022138.2	NP_071421.1:p.(Asn450Asp)	NC_000006.11:g.169064783A>G	(Likely) benign	1 lab	8ccb326afc
15:85345510 ZNF592 A>G	15	85345510	85345510	A	G	ZNF592	c.3690A>G	NM_014630.2	NP_055445.2:p.(Pro1230=)	NC_000015.9:g.85345510A>G	(Likely) benign	1 lab	8ccc91709d
1:3347521 PRDM16 G>A	1	3347521	3347521	G	A	PRDM16	c.3370G>A	NM_022114.4	NP_071397.3:p.(Asp1124Asn)	NC_000001.10:g.3347521G>A	VUS	1 lab	fc9fc90321
5:149435644 CSF1R C>T	5	149435644	149435644	C	T	CSF1R	c.2499G>A	NM_005211.3	NP_005202.2:p.(Thr833=)	NC_000005.9:g.149435644C>T	(Likely) benign	1 lab	8cd3b748ca
15:83378426 AP3B2 C>G	15	83378426	83378426	C	G	AP3B2	c.33G>C	NM_001348440.1	NP_001335369.1:p.(Lys11Asn)	NC_000015.9:g.83378426C>G	(Likely) benign	1 lab	8cd405a9b4
15:74494518 STRA6 C>T	15	74494518	74494518	C	T	STRA6	c.208G>A	NM_001199042.1	NP_001185971.1:p.(Gly70Ser)	NC_000015.9:g.74494518C>T	(Likely) benign	1 lab	8cd5f0d9c5
3:49759374 GMPPB A>C	3	49759374	49759374	A	C	GMPPB	c.975T>G	NM_013334.3	NP_037466.2:p.(Gly325=)	NC_000003.11:g.49759374A>C	(Likely) benign	1 lab	8cd64c25ec
X:2836015 ARSD G>A	X	2836015	2836015	G	A	ARSD	c.693C>T	NM_001669.3	NP_001660.2:p.(Thr231=)	NC_000023.10:g.2836015G>A	(Likely) benign	1 lab	8cd6d8c0a0
X:107448708 COL4A6 C>T	X	107448708	107448708	C	T	COL4A6	c.648G>A	NM_001287758.1	NP_001274687.1:p.(Gly216=)	NC_000023.10:g.107448708C>T	(Likely) benign	1 lab	8cd7337a1e
9:135206679 SETX C>T	9	135206679	135206679	C	T	SETX	c.995G>A	NM_015046.5	NP_055861.3:p.(Arg332Gln)	NC_000009.11:g.135206679C>T	VUS	1 lab	8cdaf1903e
1:100964827 CDC14A G>GCAGAC	1	100964827	100964832	G	GCAGAC	CDC14A	c.1765_1769dup	NM_033312.2	NP_201569.1:p.(Pro591ArgfsTer44)	NC_000001.10:g.100964828_100964832dup	(Likely) pathogenic	1 lab	8cdcd37844
X:2793909 GYG2 A>T	X	2793909	2793909	A	T	GYG2	c.1190A>T	NM_003918.2	NP_003909.2:p.(Gln397Leu)	NC_000023.10:g.2793909A>T	(Likely) benign	1 lab	8cdf1dd67e
7:794448 DNAAF5 T>C	7	794448	794448	T	C	DNAAF5	c.1247T>C	NM_017802.3	NP_060272.3:p.(Val416Ala)	NC_000007.13:g.794448T>C	VUS	1 lab	8ce153a355
7:21907458 DNAH11 A>G	7	21907458	21907458	A	G	DNAH11				NC_000007.13:g.21907458A>G	(Likely) benign	1 lab	8ce17e2b2a
14:50597306 SOS2 T>C	14	50597306	50597306	T	C	SOS2	c.3250A>G	NM_006939.3	NP_008870.2:p.(Thr1084Ala)	NC_000014.8:g.50597306T>C	(Likely) benign	1 lab	8ce230f962
3:47045449 NBEAL2 G>A	3	47045449	47045449	G	A	NBEAL2	c.5864G>A	NM_015175.2	NP_055990.1:p.(Arg1955His)	NC_000003.11:g.47045449G>A	VUS	1 lab	8ce38b3eb5
X:70837422 CXCR3 G>A	X	70837422	70837422	G	A	CXCR3	c.41C>T	NM_001142797.1	NP_001136269.1:p.(Thr14Ile)	NC_000023.10:g.70837422G>A	(Likely) benign	1 lab	8ce416df8b
17:29576013 NF1 C>A	17	29576013	29576013	C	A	NF1	c.3986C>A	NM_000267.3	NP_000258.1:p.(Ser1329Ter)	NC_000017.10:g.29576013C>A	(Likely) pathogenic	1 lab	8ce5e4b945
4:650808 PDE6B T>C	4	650808	650808	T	C	PDE6B	c.1253T>C	NM_000283.3	NP_000274.2:p.(Met418Thr)	NC_000004.11:g.650808T>C	VUS	1 lab	8ce726aeec
X:110644189 DCX C>T	X	110644189	110644189	C	T	DCX	c.705+29G>A	NM_178153.2	NP_835366.1:p.?	NC_000023.10:g.110644189C>T	(Likely) benign	1 lab	8ceb80e34c
10:17142232 CUBN G>A	10	17142232	17142232	G	A	CUBN	c.1537C>T	NM_001081.3	NP_001072.2:p.(Arg513Cys)	NC_000010.10:g.17142232G>A	VUS	1 lab	8cec5bac8a
2:111399366 BUB1 G>A	2	111399366	111399366	G	A	BUB1	c.2478C>T	NM_004336.4	NP_004327.1:p.(Ala826=)	NC_000002.11:g.111399366G>A	(Likely) benign	1 lab	8ced0fd41f
1:156882746 PEAR1 C>T	1	156882746	156882746	C	T	PEAR1	c.2202C>T	NM_001353683.1	NP_001340612.1:p.(Arg734=)	NC_000001.10:g.156882746C>T	(Likely) benign	1 lab	8cf05db2e0
1:162743298 DDR2 GAC>G	1	162743298	162743301	GAC	G	DDR2	c.1770_1771del	NM_006182.4	NP_006173.2:p.(Asp590GlufsTer31)	NC_000001.10:g.162743300_162743301del	VUS	1 lab	8cf1b09741
6:71665783 B3GAT2 T>C	6	71665783	71665783	T	C	B3GAT2	c.350A>G	NM_080742.2	NP_542780.1:p.(Glu117Gly)	NC_000006.11:g.71665783T>C	VUS	1 lab	8cf3a61d14
11:117299234 DSCAML1 G>C	11	117299234	117299234	G	C	DSCAML1	c.6152C>G	NM_020693.3	NP_065744.2:p.(Thr2051Ser)	NC_000011.9:g.117299234G>C	(Likely) benign	1 lab	8cf54e178a
20:49509045 ADNP TATC>T	20	49509045	49509054	TATC	T	ADNP	c.2203_2205del	NM_015339.5	NP_056154.1:p.(Asp735del)	NC_000020.10:g.49509052_49509054del	VUS	1 lab	fca1efdcb8
7:21781773 DNAH11 A>G	7	21781773	21781773	A	G	DNAH11				NC_000007.13:g.21781773A>G	(Likely) benign	1 lab	8cf5e302f8
11:92507223 FAT3 C>T	11	92507223	92507223	C	T	FAT3	c.4212C>T	NM_001008781.2	NP_001008781.2:p.(Ser1404=)	NC_000011.9:g.92507223C>T	(Likely) benign	1 lab	8cf65af164
3:50225507 SEMA3F A>G	3	50225507	50225507	A	G	SEMA3F	c.2224A>G	NM_001318800.1	NP_001305729.1:p.(Lys742Glu)	NC_000003.11:g.50225507A>G	VUS	1 lab	8cf8d575d1
1:247597507 NLRP3 C>T	1	247597507	247597507	C	T	NLRP3	c.2424C>T	NM_001243133.1	NP_001230062.1:p.(Leu808=)	NC_000001.10:g.247597507C>T	(Likely) benign	1 lab	8cf9a686a9
7:92147472 PEX1 T>C	7	92147472	92147472	T	C	PEX1	c.455A>G	NM_000466.2	NP_000457.1:p.(Tyr152Cys)	NC_000007.13:g.92147472T>C	VUS	1 lab	8cfc0f0004
X:70800700 GCNA G>T	X	70800700	70800700	G	T	GCNA	c.29G>T	NM_052957.4	NP_443189.1:p.(Arg10Leu)	NC_000023.10:g.70800700G>T	(Likely) benign	1 lab	8cfcd8c11a
1:64644214 ROR1 G>A	1	64644214	64644214	G	A	ROR1	c.2490G>A	NM_005012.3	NP_005003.2:p.(Ala830=)	NC_000001.10:g.64644214G>A	(Likely) benign	1 lab	8cfcf36bd6
17:18024739 MYO15A C>T	17	18024739	18024739	C	T	MYO15A	c.2625C>T	NM_016239.3	NP_057323.3:p.(Leu875=)	NC_000017.10:g.18024739C>T	(Likely) benign	1 lab	8d00bde5eb
1:226125468 LEFTY2 G>A	1	226125468	226125468	G	A	LEFTY2	c.774C>T	NM_003240.4	NP_003231.2:p.(Thr258=)	NC_000001.10:g.226125468G>A	(Likely) benign	1 lab	8d00e7a80d
X:54521781 FGD1 C>G	X	54521781	54521781	C	G	FGD1	c.85G>C	NM_004463.2	NP_004454.2:p.(Ala29Pro)	NC_000023.10:g.54521781C>G	VUS	1 lab	8d012fa218
7:48312057 ABCA13 G>C	7	48312057	48312057	G	C	ABCA13	c.2794G>C	NM_152701.4	NP_689914.3:p.(Ala932Pro)	NC_000007.13:g.48312057G>C	VUS	1 lab	8d01b9288d
11:76869368 MYO7A G>A	11	76869368	76869368	G	A	MYO7A	c.895G>A	NM_000260.3	NP_000251.3:p.(Ala299Thr)	NC_000011.9:g.76869368G>A	VUS	1 lab	8d01bfbc60
17:79479393 ACTG1 G>A	17	79479393	79479393	G	A	ACTG1	c.-6-7C>T	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79479393G>A	(Likely) benign	1 lab	8d02da9432
7:86577191 ELAPOR2 AT>A	7	86577191	86577192	AT	A	ELAPOR2	c.357del	NM_001142749.3	NP_001136221.1:p.(Cys120AlafsTer60)	NC_000007.13:g.86577192del	VUS	1 lab	8d04126bfd
9:127619146 WDR38 G>A	9	127619146	127619146	G	A	WDR38	c.754G>A	NM_001276374.1	NP_001263303.1:p.(Gly252Ser)	NC_000009.11:g.127619146G>A	VUS	1 lab	8d06a8124c
5:112458397 MCC C>T	5	112458397	112458397	C	T	MCC	c.1011G>A	NM_001085377.1	NP_001078846.1:p.(Met337Ile)	NC_000005.9:g.112458397C>T	(Likely) benign	1 lab	8d06d5ac98
9:135786933 TSC1 G>T	9	135786933	135786933	G	T	TSC1	c.936C>A	NM_000368.4	NP_000359.1:p.(Tyr312Ter)	NC_000009.11:g.135786933G>T	(Likely) pathogenic	1 lab	8d09ca68a7
16:2137951 TSC2 G>A	16	2137951	2137951	G	A	TSC2	c.5068+9G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2137951G>A	(Likely) benign	1 lab	8d0b28e3b9
15:48779368 FBN1 G>A	15	48779368	48779368	G	A	FBN1	c.3493C>T	NM_000138.4	NP_000129.3:p.(Leu1165=)	NC_000015.9:g.48779368G>A	(Likely) benign	1 lab	8d0d5f386f
4:88532026 DSPP T>A	4	88532026	88532026	T	A	DSPP	c.-28-7T>A	NM_014208.3	NP_055023.2:p.?	NC_000004.11:g.88532026T>A	VUS	1 lab	8d0dfc234d
9:37785039 EXOSC3 C>A	9	37785039	37785039	C	A	EXOSC3	c.3G>T	NM_016042.3	NP_057126.2:p.(Met1?)	NC_000009.11:g.37785039C>A	(Likely) pathogenic	1 lab	8d0e6274df
5:122720788 CEP120 C>T	5	122720788	122720788	C	T	CEP120	c.1620G>A	NM_153223.3	NP_694955.2:p.(Met540Ile)	NC_000005.9:g.122720788C>T	(Likely) benign	1 lab	8d115061ea
19:7504940 ARHGEF18 C>A	19	7504940	7504940	C	A	ARHGEF18	c.-49C>A	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7504940C>A	(Likely) benign	1 lab	8d13547668
9:13190292 MPDZ C>T	9	13190292	13190292	C	T	MPDZ	c.1975G>A	NM_003829.4	NP_003820.2:p.(Val659Ile)	NC_000009.11:g.13190292C>T	(Likely) benign	1 lab	8d13a3bc79
7:103155629 RELN T>C	7	103155629	103155629	T	C	RELN	c.8119+3A>G	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103155629T>C	VUS	1 lab	8d13d0b42d
1:57489226 DAB1 G>A	1	57489226	57489226	G	A	DAB1	c.873C>T	NM_021080.4	NP_066566.3:p.(Phe291=)	NC_000001.10:g.57489226G>A	(Likely) benign	1 lab	8d1543f422
19:50365971 PNKP T>C	19	50365971	50365971	T	C	PNKP	c.841A>G	NM_007254.3	NP_009185.2:p.(Ile281Val)	NC_000019.9:g.50365971T>C	(Likely) benign	1 lab	8d195305f2
1:98187084 DPYD C>T	1	98187084	98187084	C	T	DPYD	c.465G>A	NM_000110.3	NP_000101.2:p.(Leu155=)	NC_000001.10:g.98187084C>T	(Likely) benign	1 lab	8d195ad520
4:3517911 LRPAP1 T>C	4	3517911	3517911	T	C	LRPAP1	c.766A>G	NM_002337.4	NP_002328.1:p.(Arg256Gly)	NC_000004.11:g.3517911T>C	VUS	1 lab	8d1b421451
16:2034318 GFER CGCGCGGGGCCGGG>C	16	2034318	2034340	CGCGCGGGGCCGGG	C	GFER	c.109_121del	NM_005262.3	NP_005253.3:p.(Arg37GlyfsTer109)	NC_000016.9:g.2034328_2034340del	VUS	1 lab	8d1b8ad08e
11:57561544 CTNND1 C>T	11	57561544	57561544	C	T	CTNND1	c.258C>T	NM_001085458.1	NP_001078927.1:p.(Asn86=)	NC_000011.9:g.57561544C>T	(Likely) benign	1 lab	8d1bceebac
10:17110231 CUBN C>T	10	17110231	17110231	C	T	CUBN	c.2840G>A	NM_001081.3	NP_001072.2:p.(Gly947Asp)	NC_000010.10:g.17110231C>T	VUS	1 lab	8d1d940f68
17:29670138 NF1 G>T	17	29670138	29670138	G	T	NF1	c.7111G>T	NM_000267.3	NP_000258.1:p.(Gly2371Ter)	NC_000017.10:g.29670138G>T	(Likely) pathogenic	1 lab	8d1dfdaff4
7:21658816 DNAH11 G>A	7	21658816	21658816	G	A	DNAH11				NC_000007.13:g.21658816G>A	(Likely) benign	1 lab	8d1ee3bc99
13:28542796 CDX2 G>T	13	28542796	28542796	G	T	CDX2	c.348C>A	NM_001265.5	NP_001256.3:p.(His116Gln)	NC_000013.10:g.28542796G>T	VUS	1 lab	8d1f64242a
10:105792725 COL17A1 A>G	10	105792725	105792725	A	G	COL17A1	c.4296T>C	NM_000494.4	NP_000485.3:p.(Thr1432=)	NC_000010.10:g.105792725A>G	(Likely) benign	1 lab	8d216bd730
22:51159376 SHANK3 GC>G	22	51159376	51159381	GC	G	SHANK3	c.3345del	NM_001372044.2	NP_001358973.1:p.(Gly1116AlafsTer37)	NC_000022.10:g.51159381del	(Likely) pathogenic	1 lab	8d219f0c56
15:72110013 NR2E3 G>A	15	72110013	72110013	G	A	NR2E3	c.1221G>A	NM_014249.3	NP_055064.1:p.(Met407Ile)	NC_000015.9:g.72110013G>A	VUS	1 lab	8d21c6285a
1:160310087 COPA GA>G	1	160310087	160310094	GA	G	COPA	c.41-4del	NM_004371.4	NP_004362.2:p.?	NC_000001.10:g.160310094del	(Likely) benign	1 lab	8d23d7e528
1:234744857 IRF2BP2 G>C	1	234744857	234744857	G	C	IRF2BP2	c.384C>G	NM_182972.2	NP_892017.2:p.(Arg128=)	NC_000001.10:g.234744857G>C	(Likely) benign	1 lab	8d247b7b1e
9:126135689 CRB2 G>A	9	126135689	126135689	G	A	CRB2	c.2879G>A	NM_173689.6	NP_775960.4:p.(Arg960His)	NC_000009.11:g.126135689G>A	(Likely) benign	1 lab	8d2502c489
1:92946546 GFI1 C>A	1	92946546	92946546	C	A	GFI1	c.398G>T	NM_005263.3	NP_005254.2:p.(Arg133Leu)	NC_000001.10:g.92946546C>A	VUS	1 lab	8d25ad945b
1:36931985 CSF3R A>G	1	36931985	36931985	A	G	CSF3R	c.2565T>C	NM_156039.3	NP_724781.1:p.(His855=)	NC_000001.10:g.36931985A>G	(Likely) benign	1 lab	8d27351f63
1:54605319 CDCP2 G>GC	1	54605319	54605320	G	GC	CDCP2	c.1223_1224insG	NM_201546.4	NP_963840.2:p.(Met409HisfsTer45)	NC_000001.10:g.54605319_54605320insC	(Likely) benign	1 lab	8d28132f70
2:168105928 XIRP2 A>C	2	168105928	168105928	A	C	XIRP2	c.8026A>C	NM_152381.5	NP_689594.4:p.(Lys2676Gln)	NC_000002.11:g.168105928A>C	(Likely) benign	1 lab	8d28ad4b65
4:88535818 DSPP T>C	4	88535818	88535818	T	C	DSPP	c.2004T>C	NM_014208.3	NP_055023.2:p.(Ser668=)	NC_000004.11:g.88535818T>C	(Likely) benign	1 lab	8d28da08d8
21:45750355 CFAP410 C>T	21	45750355	45750355	C	T	CFAP410	c.990G>A	NM_001271441.1	NP_001258370.1:p.(Pro330=)	NC_000021.8:g.45750355C>T	(Likely) benign	1 lab	8d28ffbd02
14:23868076 MYH6 G>A	14	23868076	23868076	G	A	MYH6	c.1752C>T	NM_002471.3	NP_002462.2:p.(Ala584=)	NC_000014.8:g.23868076G>A	(Likely) benign	1 lab	8d2963bd75
5:150914011 FAT2 T>C	5	150914011	150914011	T	C	FAT2	c.9386A>G	NM_001447.2	NP_001438.1:p.(Lys3129Arg)	NC_000005.9:g.150914011T>C	VUS	1 lab	8d2a98aa0d
16:1576020 IFT140 T>C	16	1576020	1576020	T	C	IFT140	c.2636A>G	NM_014714.3	NP_055529.2:p.(Tyr879Cys)	NC_000016.9:g.1576020T>C	VUS	1 lab	8d2af6620f
17:80051483 FASN C>T	17	80051483	80051483	C	T	FASN	c.445G>A	NM_004104.5	NP_004095.4:p.(Asp149Asn)	NC_000017.10:g.80051483C>T	VUS	1 lab	8d2ea0e326
21:46925297 COL18A1 CCCCCCTGGG>C	21	46925297	46925323	CCCCCCTGGG	C	COL18A1	c.3057_3065del	NM_001379500.1	NP_001366429.1:p.(Pro1020_Gly1022del)	NC_000021.8:g.46925315_46925323del	VUS	1 lab	8d36f70b24
9:140057663 GRIN1 C>T	9	140057663	140057663	C	T	GRIN1	c.2214C>T	NM_007327.3	NP_015566.1:p.(Phe738=)	NC_000009.11:g.140057663C>T	(Likely) benign	1 lab	8d376eb98f
17:1631076 WDR81 G>A	17	1631076	1631076	G	A	WDR81	c.2823G>A	NM_001163809.1	NP_001157281.1:p.(Thr941=)	NC_000017.10:g.1631076G>A	(Likely) benign	1 lab	8d384240f6
9:77422957 TRPM6 T>C	9	77422957	77422957	T	C	TRPM6	c.1631A>G	NM_017662.4	NP_060132.3:p.(Lys544Arg)	NC_000009.11:g.77422957T>C	(Likely) benign	1 lab	8d39d1a5a9
1:160012089 KCNJ10 T>C	1	160012089	160012089	T	C	KCNJ10	c.234A>G	NM_002241.4	NP_002232.2:p.(Thr78=)	NC_000001.10:g.160012089T>C	(Likely) benign	1 lab	8d3a50f56b
7:100225870 TFR2 C>T	7	100225870	100225870	C	T	TFR2	c.1450G>A	NM_003227.3	NP_003218.2:p.(Val484Met)	NC_000007.13:g.100225870C>T	VUS	1 lab	8d3a9d7bbd
11:119213723 MFRP G>A	11	119213723	119213723	G	A	MFRP	c.1125-10C>T	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119213723G>A	(Likely) benign	1 lab	8d3ab36790
11:2906135 CDKN1C G>A	11	2906135	2906135	G	A	CDKN1C	c.585C>T	NM_000076.2	NP_000067.1:p.(Val195=)	NC_000011.9:g.2906135G>A	(Likely) benign	1 lab	8d3cf07540
3:100020940 TBC1D23 G>A	3	100020940	100020940	G	A	TBC1D23	c.1122G>A	NM_018309.4	NP_060779.2:p.(Gln374=)	NC_000003.11:g.100020940G>A	(Likely) benign	1 lab	8d3fc53117
19:1469588 APC2 C>T	19	1469588	1469588	C	T	APC2	c.6288C>T	NM_005883.2	NP_005874.1:p.(Val2096=)	NC_000019.9:g.1469588C>T	(Likely) benign	1 lab	8d41bcf7c1
X:132458257 GPC4 G>C	X	132458257	132458257	G	C	GPC4	c.627C>G	NM_001448.2	NP_001439.2:p.(Leu209=)	NC_000023.10:g.132458257G>C	(Likely) benign	1 lab	8d43a5933b
1:20304963 PLA2G2A G>A	1	20304963	20304963	G	A	PLA2G2A	c.95C>T	NM_000300.3	NP_000291.1:p.(Thr32Met)	NC_000001.10:g.20304963G>A	(Likely) benign	1 lab	8d4503704d
20:3209664 SLC4A11 C>A	20	3209664	3209664	C	A	SLC4A11	c.2148-7G>T	NM_001174090.1	NP_001167561.1:p.?	NC_000020.10:g.3209664C>A	(Likely) benign	1 lab	8d484ca41d
X:23398029 PTCHD1 G>C	X	23398029	23398029	G	C	PTCHD1	c.673G>C	NM_173495.2	NP_775766.2:p.(Val225Leu)	NC_000023.10:g.23398029G>C	VUS	1 lab	8d4b60a0b1
15:75980585 CSPG4 G>A	15	75980585	75980585	G	A	CSPG4	c.2821C>T	NM_001897.5	NP_001888.2:p.(Arg941Cys)	NC_000015.9:g.75980585G>A	VUS	1 lab	8d4bafeb76
14:21802832 RPGRIP1 G>GAAATA	14	21802832	21802833	G	GAAATA	RPGRIP1	c.3307_3308insAAATA	NM_020366.3	NP_065099.3:p.(Val1103GlufsTer33)	NC_000014.8:g.21802832_21802833insAAATA	VUS	1 lab	8d4bb6b196
19:50099565 PRR12 C>T	19	50099565	50099565	C	T	PRR12	c.1973C>T	NM_020719.2	NP_065770.1:p.(Ala658Val)	NC_000019.9:g.50099565C>T	VUS	1 lab	8d4cdd44b4
16:2134406 TSC2 C>T	16	2134406	2134406	C	T	TSC2	c.4183C>T	NM_000548.3	NP_000539.2:p.(Gln1395Ter)	NC_000016.9:g.2134406C>T	(Likely) pathogenic	1 lab	8d4d285bf4
6:16327903 ATXN1 C>CTGCTGCTGCTGA	6	16327903	16327909	C	CTGCTGCTGCTGA	ATXN1	c.638_639insTCAGCAGCAGCA	NM_000332.3	NP_000323.2:p.(Gln212_Gln213insHisGlnGlnGln)	NC_000006.11:g.16327908_16327909insCTGCTGATGCTG	(Likely) benign	1 lab	8d4dbbc469
19:38573450 SIPA1L3 C>T	19	38573450	38573450	C	T	SIPA1L3	c.1245C>T	NM_015073.2	NP_055888.1:p.(Leu415=)	NC_000019.9:g.38573450C>T	(Likely) benign	1 lab	8d4dea6840
17:42990742 GFAP G>A	17	42990742	42990742	G	A	GFAP	c.675C>T	NM_002055.4	NP_002046.1:p.(Asp225=)	NC_000017.10:g.42990742G>A	(Likely) benign	1 lab	8d4ec8c631
17:18039881 MYO15A G>A	17	18039881	18039881	G	A	MYO15A	c.4660G>A	NM_016239.3	NP_057323.3:p.(Ala1554Thr)	NC_000017.10:g.18039881G>A	VUS	1 lab	8d4fa5fa26
17:1132889 ABR C>T	17	1132889	1132889	C	T	ABR	c.36G>A	NM_001322841.1	NP_001309770.1:p.(Arg12=)	NC_000017.10:g.1132889C>T	(Likely) benign	1 lab	8d4fabb438
12:52962041 KRT74 G>A	12	52962041	52962041	G	A	KRT74	c.1267C>T	NM_175053.3	NP_778223.2:p.(Arg423Cys)	NC_000012.11:g.52962041G>A	VUS	1 lab	8d4ff8317e
1:196621311 CFH A>C	1	196621311	196621311	A	C	CFH	c.58+6A>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196621311A>C	(Likely) benign	1 lab	8d501016e5
6:135763726 AHI1 T>C	6	135763726	135763726	T	C	AHI1	c.1906A>G	NM_001350503.1	NP_001337432.1:p.(Ile636Val)	NC_000006.11:g.135763726T>C	VUS	1 lab	8d51d5dd13
19:7705899 STXBP2 G>C	19	7705899	7705899	G	C	STXBP2	c.462+10G>C	NM_001272034.1	NP_001258963.1:p.?	NC_000019.9:g.7705899G>C	(Likely) benign	1 lab	8d5481c06c
2:98852861 VWA3B A>G	2	98852861	98852861	A	G	VWA3B	c.2437A>G	NM_144992.4	NP_659429.4:p.(Ile813Val)	NC_000002.11:g.98852861A>G	(Likely) benign	1 lab	8d54b71232
4:9213851 USP17L10 C>A	4	9213851	9213851	C	A	USP17L10	c.1469C>A	NM_001256852.1	NP_001243781.1:p.(Ser490Tyr)	NC_000004.11:g.9213851C>A	(Likely) benign	1 lab	8d57d46b51
6:43488515 POLR1C A>G	6	43488515	43488515	A	G	POLR1C	c.805+3A>G	NM_203290.3	NP_976035.1:p.?	NC_000006.11:g.43488515A>G	VUS	1 lab	8d57ee51c2
17:29554250 NF1 C>T	17	29554250	29554250	C	T	NF1	c.2266C>T	NM_000267.3	NP_000258.1:p.(Gln756Ter)	NC_000017.10:g.29554250C>T	(Likely) pathogenic	1 lab	8d58371265
X:100496711 DRP2 C>T	X	100496711	100496711	C	T	DRP2	c.614C>T	NM_001939.2	NP_001930.2:p.(Ala205Val)	NC_000023.10:g.100496711C>T	VUS	1 lab	8d5838b5a8
4:151504299 MAB21L2 G>C	4	151504299	151504299	G	C	MAB21L2	c.118G>C	NM_006439.4	NP_006430.1:p.(Asp40His)	NC_000004.11:g.151504299G>C	(Likely) benign	1 lab	8d5ac90b70
8:37620276 PLPBP G>T	8	37620276	37620276	G	T	PLPBP	c.99G>T	NM_001349346.1	NP_001336275.1:p.(Arg33=)	NC_000008.10:g.37620276G>T	VUS	1 lab	8d5ca5ef30
1:94487392 ABCA4 G>A	1	94487392	94487392	G	A	ABCA4	c.4773+10C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94487392G>A	(Likely) benign	1 lab	8d5ce50064
X:153228740 HCFC1 G>C	X	153228740	153228740	G	C	HCFC1	c.648C>G	NM_005334.2	NP_005325.2:p.(Ser216=)	NC_000023.10:g.153228740G>C	(Likely) benign	1 lab	8d5ce51fda
9:109691621 ZNF462 G>A	9	109691621	109691621	G	A	ZNF462	c.5428G>A	NM_021224.6	NP_067047.4:p.(Val1810Ile)	NC_000009.11:g.109691621G>A	VUS	1 lab	fcab8de8a7
15:57213283 TCF12 A>G	15	57213283	57213283	A	G	TCF12	c.135A>G	NM_207037.1	NP_996920.1:p.(Gln45=)	NC_000015.9:g.57213283A>G	(Likely) benign	1 lab	8d5efc15a8
15:91304484 BLM T>C	15	91304484	91304484	T	C	BLM	c.756T>C	NM_001287248.1	NP_001274177.1:p.(Thr252=)	NC_000015.9:g.91304484T>C	(Likely) benign	1 lab	8d5f167792
8:73921172 TERF1 T>C	8	73921172	73921172	T	C	TERF1	c.51T>C	NM_017489.2	NP_059523.2:p.(Asp17=)	NC_000008.10:g.73921172T>C	(Likely) benign	1 lab	8d5fc81d47
X:21869648 MBTPS2 G>A	X	21869648	21869648	G	A	MBTPS2	c.460G>A	NM_015884.3	NP_056968.1:p.(Val154Ile)	NC_000023.10:g.21869648G>A	(Likely) benign	1 lab	8d5fd6bfa6
17:18025121 MYO15A A>C	17	18025121	18025121	A	C	MYO15A	c.3007A>C	NM_016239.4	NP_057323.3:p.(Lys1003Gln)	NC_000017.10:g.18025121A>C	VUS	1 lab	fcad533ebc
9:140069431 ANAPC2 G>A	9	140069431	140069431	G	A	ANAPC2	c.2432C>T	NM_013366.4	NP_037498.1:p.(Ser811Leu)	NC_000009.11:g.140069431G>A	VUS	1 lab	8d60d7498e
3:111366426 CD96 G>A	3	111366426	111366426	G	A	CD96	c.1562G>A	NM_198196.3	NP_937839.1:p.(Trp521Ter)	NC_000003.11:g.111366426G>A	VUS	1 lab	fcb245e0a4
6:42934143 PEX6 C>A	6	42934143	42934143	C	A	PEX6	c.2137G>T	NM_000287.3	NP_000278.3:p.(Val713Leu)	NC_000006.11:g.42934143C>A	VUS	1 lab	8d635b43ac
12:41337435 CNTN1 C>T	12	41337435	41337435	C	T	CNTN1	c.1416C>T	NM_001843.4	NP_001834.2:p.(Asn472=)	NC_000012.11:g.41337435C>T	(Likely) benign	1 lab	fcb72f93bb
8:96059312 NDUFAF6 GGAGCAGAA>G	8	96059312	96059322	GGAGCAGAA	G	NDUFAF6	c.674_681del	NM_152416.4	NP_689629.2:p.(Ser225LysfsTer26)	NC_000008.10:g.96059315_96059322del	(Likely) pathogenic	1 lab	8d6623d927
2:189918907 COL5A2 G>A	2	189918907	189918907	G	A	COL5A2	c.2423C>T	NM_000393.4	NP_000384.2:p.(Pro808Leu)	NC_000002.11:g.189918907G>A	VUS	1 lab	8d68302d95
X:17744946 NHS C>T	X	17744946	17744946	C	T	NHS	c.2720C>T	NM_001291867.1	NP_001278796.1:p.(Pro907Leu)	NC_000023.10:g.17744946C>T	VUS	1 lab	8d6a9f1728
14:88899508 SPATA7 T>C	14	88899508	88899508	T	C	SPATA7	c.1112T>C	NM_018418.4	NP_060888.2:p.(Ile371Thr)	NC_000014.8:g.88899508T>C	VUS	1 lab	8d6afb0384
X:100513417 DRP2 C>T	X	100513417	100513417	C	T	DRP2	c.2510C>T	NM_001939.2	NP_001930.2:p.(Ala837Val)	NC_000023.10:g.100513417C>T	VUS	1 lab	8d6cefca3a
17:48649339 CACNA1G C>T	17	48649339	48649339	C	T	CACNA1G	c.687C>T	NM_018896.4	NP_061496.2:p.(Gly229=)	NC_000017.10:g.48649339C>T	(Likely) benign	1 lab	8d6d562db2
17:29576136 NF1 AG>CC	17	29576136	29576137	AG	CC	NF1	c.4109_4110delinsCC	NM_000267.3	NP_000258.1:p.(Gln1370Pro)	NC_000017.10:g.29576136_29576137delinsCC	(Likely) pathogenic	1 lab	8d6e8dcaf4
1:207500169 CD55 G>A	1	207500169	207500169	G	A	CD55	c.651G>A	NM_001114752.2	NP_001108224.1:p.(Leu217=)	NC_000001.10:g.207500169G>A	(Likely) benign	1 lab	8d719052fd
2:62067001 FAM161A G>A	2	62067001	62067001	G	A	FAM161A	c.1138C>T	NM_001201543.1	NP_001188472.1:p.(Arg380Ter)	NC_000002.11:g.62067001G>A	(Likely) pathogenic	1 lab	8d7255eeeb
1:220364526 RAB3GAP2 ACCCTGAGAAT>A	1	220364526	220364536	ACCCTGAGAAT	A	RAB3GAP2	c.1361_1370del	NM_012414.4	NP_036546.2:p.(Asn454IlefsTer5)	NC_000001.10:g.220364527_220364536del	(Likely) pathogenic	1 lab	8d7365d5fd
1:152277588 FLG G>A	1	152277588	152277588	G	A	FLG	c.9774C>T	NM_002016.1	NP_002007.1:p.(His3258=)	NC_000001.10:g.152277588G>A	(Likely) benign	1 lab	8d7442408c
8:145024379 PLEC G>A	8	145024379	145024379	G	A	PLEC	c.496C>T	NM_201380.3	NP_958782.1:p.(Pro166Ser)	NC_000008.10:g.145024379G>A	(Likely) benign	1 lab	8d75120a65
10:100195143 HPS1 T>C	10	100195143	100195143	T	C	HPS1	c.284A>G	NM_000195.5	NP_000186.2:p.(Asn95Ser)	NC_000010.10:g.100195143T>C	VUS	1 lab	fcbaab4cbb
11:6653662 DCHS1 T>A	11	6653662	6653662	T	A	DCHS1				NC_000011.9:g.6653662T>A	(Likely) benign	1 lab	8d7778e65e
15:78398161 CIB2 C>T	15	78398161	78398161	C	T	CIB2	c.477G>A	NM_001301224.1	NP_001288153.1:p.(Glu159=)	NC_000015.9:g.78398161C>T	(Likely) benign	1 lab	8d7b2972b3
6:83903532 PGM3 C>T	6	83903532	83903532	C	T	PGM3	c.-56+10G>A	NM_001199917.2	NP_001186846.1:p.?	NC_000006.11:g.83903532C>T	(Likely) benign	1 lab	8d7bb161e6
6:30918348 MUCL3 C>A	6	30918348	30918348	C	A	MUCL3	c.2107C>A	NM_080870.3	NP_543146.2:p.(His703Asn)	NC_000006.11:g.30918348C>A	(Likely) benign	1 lab	8d7bc9ff75
10:85967998 CDHR1 G>A	10	85967998	85967998	G	A	CDHR1	c.1032G>A	NM_033100.4	NP_149091.1:p.(Val344=)	NC_000010.10:g.85967998G>A	(Likely) benign	1 lab	8d7c37aba0
15:64025168 HERC1 A>T	15	64025168	64025168	A	T	HERC1	c.2823T>A	NM_003922.3	NP_003913.3:p.(Ala941=)	NC_000015.9:g.64025168A>T	(Likely) benign	1 lab	8d7e36befb
16:88505244 ZNF469 G>A	16	88505244	88505244	G	A	ZNF469				NC_000016.9:g.88505244G>A	(Likely) benign	1 lab	8d7fe8270c
X:68058654 EFNB1 T>TA	X	68058654	68058655	T	TA	EFNB1	c.324dup	NM_004429.4	NP_004420.1:p.(Arg109ThrfsTer23)	NC_000023.10:g.68058655dup	(Likely) pathogenic	1 lab	8d804bdc58
2:179456417 TTN T>C	2	179456417	179456417	T	C	TTN	c.60129A>G	NM_001267550.1	NP_001254479.1:p.(Gly20043=)	NC_000002.11:g.179456417T>C	(Likely) benign	1 lab	8d820e861b
17:17698930 RAI1 C>T	17	17698930	17698930	C	T	RAI1	c.2668C>T	NM_030665.4	NP_109590.3:p.(Pro890Ser)	NC_000017.10:g.17698930C>T	VUS	1 lab	fcbb41b1f0
2:166188010 SCN2A C>G	2	166188010	166188010	C	G	SCN2A	c.2320C>G	NM_021007.3	NP_066287.2:p.(Leu774Val)	NC_000002.11:g.166188010C>G	VUS	1 lab	fcbdab57aa
10:95111590 MYOF A>G	10	95111590	95111590	A	G	MYOF	c.3495T>C	NM_013451.4	NP_038479.1:p.(His1165=)	NC_000010.10:g.95111590A>G	(Likely) benign	1 lab	8d85356882
6:3113338 RIPK1 T>G	6	3113338	3113338	T	G	RIPK1	c.1292T>G	NM_001317061.2	NP_001303990.1:p.(Leu431Arg)	NC_000006.11:g.3113338T>G	VUS	1 lab	8d854c12fa
5:135398357 TGFBI C>T	5	135398357	135398357	C	T	TGFBI	c.1992C>T	NM_000358.2	NP_000349.1:p.(Ser664=)	NC_000005.9:g.135398357C>T	(Likely) benign	1 lab	8d855caf05
9:140611382 EHMT1 G>T	9	140611382	140611382	G	T	EHMT1	c.390G>T	NM_024757.4	NP_079033.4:p.(Pro130=)	NC_000009.11:g.140611382G>T	(Likely) benign	1 lab	8d8aa8f090
7:130038821 CEP41 C>T	7	130038821	130038821	C	T	CEP41	c.1033G>A	NM_018718.2	NP_061188.1:p.(Ala345Thr)	NC_000007.13:g.130038821C>T	(Likely) benign	1 lab	8d8afe7c5f
7:82586165 PCLO A>T	7	82586165	82586165	A	T	PCLO	c.4104T>A	NM_033026.5	NP_149015.2:p.(Asp1368Glu)	NC_000007.13:g.82586165A>T	VUS	1 lab	8d8c09b7d5
5:178417711 GRM6 G>A	5	178417711	178417711	G	A	GRM6	c.894C>T	NM_000843.4	NP_000834.2:p.(Thr298=)	NC_000005.9:g.178417711G>A	(Likely) benign	1 lab	8d8f64de30
6:17772258 KIF13A C>T	6	17772258	17772258	C	T	KIF13A	c.4318G>A	NM_001105568.2	NP_001099038.1:p.(Val1440Ile)	NC_000006.11:g.17772258C>T	(Likely) benign	1 lab	8d8fc92649
X:66765704 AR T>A	X	66765704	66765704	T	A	AR	c.716T>A	NM_000044.4	NP_000035.2:p.(Leu239Ter)	NC_000023.10:g.66765704T>A	(Likely) pathogenic	1 lab	8d8fd270ce
3:183855780 EIF2B5 G>A	3	183855780	183855780	G	A	EIF2B5	c.601G>A	NM_003907.3	NP_003898.2:p.(Val201Met)	NC_000003.11:g.183855780G>A	VUS	1 lab	8d913da08a
9:139333473 INPP5E C>G	9	139333473	139333473	C	G	INPP5E	c.399G>C	NM_019892.5	NP_063945.2:p.(Leu133=)	NC_000009.11:g.139333473C>G	(Likely) benign	1 lab	8d92db6e75
22:38121531 TRIOBP C>T	22	38121531	38121531	C	T	TRIOBP	c.2968C>T	NM_001039141.2	NP_001034230.1:p.(Arg990Ter)	NC_000022.10:g.38121531C>T	(Likely) pathogenic	1 lab	8d93b41ea5
17:4904701 KIF1C G>A	17	4904701	4904701	G	A	KIF1C	c.363+5G>A	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4904701G>A	(Likely) benign	1 lab	8d94881b49
11:26682000 ANO3 T>C	11	26682000	26682000	T	C	ANO3	c.*9T>C	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26682000T>C	(Likely) benign	1 lab	fcbfc796b7
21:47855954 PCNT G>A	21	47855954	47855954	G	A	PCNT	c.8889G>A	NM_006031.5	NP_006022.3:p.(Ser2963=)	NC_000021.8:g.47855954G>A	(Likely) benign	1 lab	8d95bdefc9
17:29562627 NF1 A>G	17	29562627	29562627	A	G	NF1	c.3709-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562627A>G	(Likely) pathogenic	1 lab	8d95f25e90
19:38610312 SIPA1L3 C>G	19	38610312	38610312	C	G	SIPA1L3	c.2658C>G	NM_015073.2	NP_055888.1:p.(Ile886Met)	NC_000019.9:g.38610312C>G	VUS	1 lab	8d9688aa56
X:3240919 MXRA5 T>C	X	3240919	3240919	T	C	MXRA5	c.2807A>G	NM_015419.3	NP_056234.2:p.(His936Arg)	NC_000023.10:g.3240919T>C	(Likely) benign	1 lab	8d979f1d3e
6:110434619 WASF1 G>A	6	110434619	110434619	G	A	WASF1	c.178C>T	NM_003931.3	NP_003922.1:p.(His60Tyr)	NC_000006.11:g.110434619G>A	VUS	1 lab	fcc0fa0852
1:39908079 MACF1 A>G	1	39908079	39908079	A	G	MACF1	c.12772-5A>G	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39908079A>G	(Likely) benign	1 lab	8d989be2af
X:128723823 OCRL T>C	X	128723823	128723823	T	C	OCRL	c.2474T>C	NM_001318784.1	NP_001305713.1:p.(Val825Ala)	NC_000023.10:g.128723823T>C	VUS	1 lab	8d995d1b47
1:43396388 SLC2A1 A>G	1	43396388	43396388	A	G	SLC2A1	c.425T>C	NM_006516.3	NP_006507.2:p.(Met142Thr)	NC_000001.10:g.43396388A>G	VUS	1 lab	8d99b5f21f
16:30768228 PHKG2 G>A	16	30768228	30768228	G	A	PHKG2	c.1031G>A	NM_000294.2	NP_000285.1:p.(Arg344Gln)	NC_000016.9:g.30768228G>A	VUS	1 lab	8d99d40c03
12:49579358 TUBA1A C>T	12	49579358	49579358	C	T	TUBA1A	c.791G>A	NM_006009.3	NP_006000.2:p.(Arg264His)	NC_000012.11:g.49579358C>T	(Likely) pathogenic	1 lab	8d9b678538
X:150844537 PASD1 C>G	X	150844537	150844537	C	G	PASD1	c.2244C>G	NM_173493.2	NP_775764.2:p.(Tyr748Ter)	NC_000023.10:g.150844537C>G	VUS	1 lab	8d9c81ff04
14:21993205 SALL2 G>T	14	21993205	21993205	G	T	SALL2	c.657C>A	NM_005407.2	NP_005398.2:p.(Ala219=)	NC_000014.8:g.21993205G>T	(Likely) benign	1 lab	8d9cf73196
14:70442476 SMOC1 G>A	14	70442476	70442476	G	A	SMOC1	c.423G>A	NM_001034852.2	NP_001030024.1:p.(Pro141=)	NC_000014.8:g.70442476G>A	(Likely) benign	1 lab	8d9da5a0db
14:104129146 KLC1 G>A	14	104129146	104129146	G	A	KLC1	c.679G>A	NM_005552.4	NP_005543.2:p.(Gly227Arg)	NC_000014.8:g.104129146G>A	VUS	1 lab	8d9e1ced40
15:54025259 WDR72 G>A	15	54025259	54025259	G	A	WDR72				NC_000015.9:g.54025259G>A	(Likely) pathogenic	1 lab	8da1403a8a
11:1265908 MUC5B C>A	11	1265908	1265908	C	A	MUC5B	c.7798C>A	NM_002458.2	NP_002449.2:p.(Pro2600Thr)	NC_000011.9:g.1265908C>A	(Likely) benign	1 lab	8da1e069ce
15:42167783 SPTBN5 T>C	15	42167783	42167783	T	C	SPTBN5	c.4160A>G	NM_016642.4	NP_057726.4:p.(Gln1387Arg)	NC_000015.9:g.42167783T>C	(Likely) benign	1 lab	8da3e1659f
6:24505220 ALDH5A1 C>T	6	24505220	24505220	C	T	ALDH5A1	c.726+7C>T	NM_170740.1	NP_733936.1:p.?	NC_000006.11:g.24505220C>T	(Likely) benign	1 lab	8da4839732
20:3888661 PANK2 G>T	20	3888661	3888661	G	T	PANK2	c.717G>T	NM_153638.4	NP_705902.2:p.(Glu239Asp)	NC_000020.10:g.3888661G>T	VUS	1 lab	fcc3cc4ac7
16:17202564 XYLT1 G>A	16	17202564	17202564	G	A	XYLT1	c.2868C>T	NM_022166.3	NP_071449.1:p.(Gly956=)	NC_000016.9:g.17202564G>A	(Likely) benign	1 lab	8da6293343
X:130678919 OR13H1 T>C	X	130678919	130678919	T	C	OR13H1	c.872T>C	NM_001004486.1	NP_001004486.1:p.(Leu291Pro)	NC_000023.10:g.130678919T>C	(Likely) benign	1 lab	8da95e5904
18:19079853 GREB1L A>G	18	19079853	19079853	A	G	GREB1L	c.3555A>G	NM_001142966.2	NP_001136438.1:p.(Glu1185=)	NC_000018.9:g.19079853A>G	(Likely) benign	1 lab	8daa94d0a3
22:50832355 PPP6R2 C>T	22	50832355	50832355	C	T	PPP6R2	c.18C>T	NM_001351641.1	NP_001338570.1:p.(Asp6=)	NC_000022.10:g.50832355C>T	(Likely) benign	1 lab	8dab6abba7
2:220366249 GMPPA C>T	2	220366249	220366249	C	T	GMPPA	c.190C>T	NM_205847.2	NP_995319.1:p.(Pro64Ser)	NC_000002.11:g.220366249C>T	(Likely) benign	1 lab	8dada09bc2
X:85119773 CHM T>C	X	85119773	85119773	T	C	CHM	c.1824A>G	NM_000390.2	NP_000381.1:p.(Pro608=)	NC_000023.10:g.85119773T>C	(Likely) benign	1 lab	8db0475b11
X:47478776 SYN1 C>T	X	47478776	47478776	C	T	SYN1	c.352G>A	NM_006950.3	NP_008881.2:p.(Val118Ile)	NC_000023.10:g.47478776C>T	VUS	1 lab	8db087a115
15:55722919 DNAAF4 A>T	15	55722919	55722919	A	T	DNAAF4	c.1106T>A	NM_001033559.2	NP_001028731.1:p.(Leu369Ter)	NC_000015.9:g.55722919A>T	VUS	1 lab	8db332ee47
4:996600 IDUA G>GC	4	996600	996603	G	GC	IDUA	c.1273dup	NM_000203.5	NP_000194.2:p.(His425ProfsTer84)	NC_000004.11:g.996603dup	(Likely) pathogenic	1 lab	8db49a6322
X:83128862 CYLC1 T>G	X	83128862	83128862	T	G	CYLC1	c.1146T>G	NM_021118.2	NP_066941.1:p.(Asn382Lys)	NC_000023.10:g.83128862T>G	(Likely) benign	1 lab	8db6d7ee5f
19:40421306 FCGBP T>C	19	40421306	40421306	T	C	FCGBP	c.2615A>G	NM_003890.2	NP_003881.2:p.(Tyr872Cys)	NC_000019.9:g.40421306T>C	VUS	1 lab	fcc8d71753
17:40695235 NAGLU G>A	17	40695235	40695235	G	A	NAGLU	c.1211G>A	NM_000263.3	NP_000254.2:p.(Trp404Ter)	NC_000017.10:g.40695235G>A	(Likely) pathogenic	1 lab	8db7e4ddd4
X:83128179 CYLC1 C>G	X	83128179	83128179	C	G	CYLC1	c.463C>G	NM_021118.2	NP_066941.1:p.(Gln155Glu)	NC_000023.10:g.83128179C>G	(Likely) benign	1 lab	8db8381433
9:40703759 SPATA31A3 G>T	9	40703759	40703759	G	T	SPATA31A3	c.1416G>T	NM_001083124.1	NP_001076593.1:p.(Leu472=)	NC_000009.11:g.40703759G>T	(Likely) benign	1 lab	8db892c14b
6:10529218 GCNT2 A>G	6	10529218	10529218	A	G	GCNT2	c.74A>G	NM_145649.4	NP_663624.1:p.(Asn25Ser)	NC_000006.11:g.10529218A>G	(Likely) benign	1 lab	8db8a763d4
X:7811851 VCX G>C	X	7811851	7811851	G	C	VCX	c.415G>C	NM_013452.2	NP_038480.2:p.(Glu139Gln)	NC_000023.10:g.7811851G>C	(Likely) benign	1 lab	8db8a9de01
7:50435776 MISSING C>A	7	50435776	50435776	C	A	MISSING				NC_000007.13:g.50435776C>A	VUS	1 lab	8dbaa86200
17:40688477 NAGLU G>A	17	40688477	40688477	G	A	NAGLU	c.187G>A	NM_000263.3	NP_000254.2:p.(Asp63Asn)	NC_000017.10:g.40688477G>A	VUS	1 lab	8dbb151fc2
17:41243051 BRCA1 T>C	17	41243051	41243051	T	C	BRCA1	c.4097-2A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243051T>C	(Likely) pathogenic	1 lab	8dbe29fdd8
20:47582480 ARFGEF2 A>G	20	47582480	47582480	A	G	ARFGEF2	c.979A>G	NM_006420.2	NP_006411.2:p.(Ile327Val)	NC_000020.10:g.47582480A>G	(Likely) benign	1 lab	8dbe942efa
16:2134513 TSC2 G>A	16	2134513	2134513	G	A	TSC2	c.4290G>A	NM_000548.3	NP_000539.2:p.(Trp1430Ter)	NC_000016.9:g.2134513G>A	(Likely) pathogenic	1 lab	8dbef581b8
13:111287925 NAXD C>T	13	111287925	111287925	C	T	NAXD	c.762C>T	NM_018210.3	NP_060680.2:p.(Asn254=)	NC_000013.10:g.111287925C>T	(Likely) benign	1 lab	8dc0a0fdc9
19:7532417 ARHGEF18 G>T	19	7532417	7532417	G	T	ARHGEF18	c.2601G>T	NM_001130955.2	NP_001124427.2:p.(Leu867=)	NC_000019.9:g.7532417G>T	(Likely) benign	1 lab	8dc16d127d
2:171573045 SP5 G>C	2	171573045	171573045	G	C	SP5	c.328G>C	NM_001003845.2	NP_001003845.1:p.(Glu110Gln)	NC_000002.11:g.171573045G>C	VUS	1 lab	8dc33f50b7
5:138286976 SIL1 G>A	5	138286976	138286976	G	A	SIL1	c.913C>T	NM_001037633.1	NP_001032722.1:p.(Arg305Trp)	NC_000005.9:g.138286976G>A	VUS	1 lab	8dc40b20f2
17:1494907 SLC43A2 A>G	17	1494907	1494907	A	G	SLC43A2	c.681T>C	NM_001284498.1	NP_001271427.1:p.(Phe227=)	NC_000017.10:g.1494907A>G	(Likely) benign	1 lab	8dc49345ad
X:85156085 CHM T>TTGG	X	85156085	85156087	T	TTGG	CHM	c.905+3_905+4insCCA	NM_001362517.1	NP_001349446.1:p.?	NC_000023.10:g.85156086_85156087insGGT	(Likely) pathogenic	1 lab	8dc7cd33f3
X:147010331 FMR1 T>C	X	147010331	147010331	T	C	FMR1	c.419+6T>C	NM_002024.5	NP_002015.1:p.?	NC_000023.10:g.147010331T>C	(Likely) benign	1 lab	8dc8c369c5
21:38139592 HLCS G>A	21	38139592	38139592	G	A	HLCS	c.1452-6C>T	NM_001242784.2	NP_001229713.1:p.?	NC_000021.8:g.38139592G>A	(Likely) benign	1 lab	8dc8c39688
2:179504781 TTN C>T	2	179504781	179504781	C	T	TTN	c.40780G>A	NM_001267550.1	NP_001254479.1:p.(Glu13594Lys)	NC_000002.11:g.179504781C>T	VUS	1 lab	8dcadc73ba
19:41863937 B9D2 G>A	19	41863937	41863937	G	A	B9D2	c.89-10C>T	NM_030578.3	NP_085055.2:p.?	NC_000019.9:g.41863937G>A	(Likely) benign	1 lab	8dcb51d470
1:11334033 UBIAD1 C>T	1	11334033	11334033	C	T	UBIAD1	c.445C>T	NM_001330349.1	NP_001317278.1:p.(Leu149Phe)	NC_000001.10:g.11334033C>T	VUS	1 lab	8dcbc67c8c
15:59564639 MYO1E C>T	15	59564639	59564639	C	T	MYO1E	c.13G>A	NM_004998.3	NP_004989.2:p.(Gly5Ser)	NC_000015.9:g.59564639C>T	VUS	1 lab	8dcc4f10fb
6:33630742 ITPR3 C>T	6	33630742	33630742	C	T	ITPR3	c.913C>T	NM_002224.3	NP_002215.2:p.(Arg305Cys)	NC_000006.11:g.33630742C>T	VUS	1 lab	8dcce617aa
15:58891890 ADAM10 C>A	15	58891890	58891890	C	A	ADAM10	c.2059G>T	NM_001110.4	NP_001101.1:p.(Ala687Ser)	NC_000015.9:g.58891890C>A	VUS	1 lab	8dcda03c84
X:19021178 ADGRG2 C>G	X	19021178	19021178	C	G	ADGRG2	c.2016G>C	NM_001079858.2	NP_001073327.1:p.(Leu672=)	NC_000023.10:g.19021178C>G	(Likely) benign	1 lab	8dce2ed961
7:99786108 STAG3 T>C	7	99786108	99786108	T	C	STAG3	c.466T>C	NM_001282717.1	NP_001269646.1:p.(Ser156Pro)	NC_000007.13:g.99786108T>C	(Likely) benign	1 lab	8dd0e34739
19:18979766 GDF1 G>C	19	18979766	18979766	G	C	GDF1	c.759C>G	NM_001492.5	NP_001483.3:p.(Arg253=)	NC_000019.9:g.18979766G>C	VUS	1 lab	8dd22fe8cd
6:29910419 HLA-A G>T	6	29910419	29910419	G	T	HLA-A	c.73+16G>T	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29910419G>T	(Likely) benign	1 lab	fcceb7f7d4
13:100637729 ZIC2 T>TGCGGCG	13	100637729	100637743	T	TGCGGCG	ZIC2	c.1401_1406dup	NM_007129.4	NP_009060.2:p.(Ala469_Ala470dup)	NC_000013.10:g.100637738_100637743dup	(Likely) benign	1 lab	8dd338bad1
20:33567233 MYH7B C>T	20	33567233	33567233	C	T	MYH7B	c.258C>T	NM_020884.4	NP_065935.3:p.(Tyr86=)	NC_000020.10:g.33567233C>T	(Likely) benign	1 lab	8dd6c38dd3
10:7763614 ITIH2 G>A	10	7763614	7763614	G	A	ITIH2	c.741G>A	NM_002216.3	NP_002207.2:p.(Ala247=)	NC_000010.10:g.7763614G>A	(Likely) benign	1 lab	8dd7bddc4f
9:123239613 CDK5RAP2 G>C	9	123239613	123239613	G	C	CDK5RAP2	c.1727+15C>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123239613G>C	(Likely) benign	1 lab	8dd90b9670
17:41203080 BRCA1 C>T	17	41203080	41203080	C	T	BRCA1	c.5332G>A	NM_007294.4	NP_009225.1:p.(Asp1778Asn)	NC_000017.10:g.41203080C>T	(Likely) pathogenic	1 lab	fcd0fc6ccb
X:136649295 ZIC3 G>A	X	136649295	136649295	G	A	ZIC3	c.445G>A	NM_003413.3	NP_003404.1:p.(Ala149Thr)	NC_000023.10:g.136649295G>A	(Likely) benign	1 lab	8de0a2bb44
15:43067892 TTBK2 G>T	15	43067892	43067892	G	T	TTBK2	c.1439C>A	NM_173500.3	NP_775771.3:p.(Ala480Glu)	NC_000015.9:g.43067892G>T	(Likely) benign	1 lab	8de0ef2157
5:127626516 FBN2 G>A	5	127626516	127626516	G	A	FBN2	c.6353C>T	NM_001999.3	NP_001990.2:p.(Ala2118Val)	NC_000005.9:g.127626516G>A	VUS	1 lab	8de1060de0
4:151504246 MAB21L2 C>A	4	151504246	151504246	C	A	MAB21L2	c.65C>A	NM_006439.4	NP_006430.1:p.(Ala22Glu)	NC_000004.11:g.151504246C>A	VUS	1 lab	8de32a212f
13:50140877 RCBTB1 T>G	13	50140877	50140877	T	G	RCBTB1	c.154A>C	NM_001352500.1	NP_001339429.1:p.(Asn52His)	NC_000013.10:g.50140877T>G	VUS	1 lab	8de4876c67
2:74757643 HTRA2 ATGG>A	2	74757643	74757649	ATGG	A	HTRA2	c.506+8_506+10del	NM_013247.5	NP_037379.1:p.?	NC_000002.11:g.74757647_74757649del	VUS	1 lab	8de6480ab1
8:144993249 PLEC G>A	8	144993249	144993249	G	A	PLEC	c.11151C>T	NM_201380.3	NP_958782.1:p.(His3717=)	NC_000008.10:g.144993249G>A	(Likely) benign	1 lab	8de84a4b9f
1:152189451 HRNR T>C	1	152189451	152189451	T	C	HRNR	c.4654A>G	NM_001009931.2	NP_001009931.1:p.(Thr1552Ala)	NC_000001.10:g.152189451T>C	(Likely) benign	1 lab	8de90871d0
21:47831309 PCNT G>A	21	47831309	47831309	G	A	PCNT	c.5322G>A	NM_006031.5	NP_006022.3:p.(Glu1774=)	NC_000021.8:g.47831309G>A	(Likely) benign	1 lab	8de94a4c27
9:71668106 FXN CTT>C	9	71668106	71668109	CTT	C	FXN	c.316_317del	NM_000144.5	NP_000135.2:p.(Leu106SerfsTer5)	NC_000009.11:g.71668108_71668109del	(Likely) pathogenic	1 lab	8de950490c
13:32915072 BRCA2 A>G	13	32915072	32915072	A	G	BRCA2	c.6580A>G	NM_000059.3	NP_000050.2:p.(Ile2194Val)	NC_000013.10:g.32915072A>G	(Likely) benign	1 lab	8dea9cb5e1
2:182521688 CERKL C>G	2	182521688	182521688	C	G	CERKL	c.46G>C	NM_001030311.2	NP_001025482.1:p.(Gly16Arg)	NC_000002.11:g.182521688C>G	(Likely) benign	1 lab	8deaba7a20
9:134074203 NUP214 C>T	9	134074203	134074203	C	T	NUP214	c.5322C>T	NM_005085.3	NP_005076.3:p.(Ala1774=)	NC_000009.11:g.134074203C>T	(Likely) benign	1 lab	8deaee8947
3:126224802 UROC1 C>T	3	126224802	126224802	C	T	UROC1	c.655G>A	NM_001165974.1	NP_001159446.1:p.(Val219Ile)	NC_000003.11:g.126224802C>T	VUS	1 lab	8dec2da544
X:153581968 FLNA G>A	X	153581968	153581968	G	A	FLNA	c.5814C>T	NM_001110556.2	NP_001104026.1:p.(Tyr1938=)	NC_000023.10:g.153581968G>A	(Likely) benign	1 lab	8dec494dff
4:103555992 MANBA A>G	4	103555992	103555992	A	G	MANBA	c.2368T>C	NM_005908.4	NP_005899.3:p.(Leu790=)	NC_000004.11:g.103555992A>G	(Likely) benign	1 lab	fcd6c68be2
11:72004477 CLPB G>A	11	72004477	72004477	G	A	CLPB	c.1923C>T	NM_001258394.2	NP_001245323.1:p.(Asp641=)	NC_000011.9:g.72004477G>A	(Likely) benign	1 lab	8deedf6591
21:47831492 PCNT G>A	21	47831492	47831492	G	A	PCNT	c.5505G>A	NM_006031.5	NP_006022.3:p.(Leu1835=)	NC_000021.8:g.47831492G>A	(Likely) benign	1 lab	8def2c0119
16:70900148 HYDIN C>A	16	70900148	70900148	C	A	HYDIN	c.11395G>T	NM_001270974.2	NP_001257903.1:p.(Asp3799Tyr)	NC_000016.9:g.70900148C>A	VUS	1 lab	8def3a08cf
7:42004095 GLI3 T>C	7	42004095	42004095	T	C	GLI3	c.4576A>G	NM_000168.6	NP_000159.3:p.(Ser1526Gly)	NC_000007.13:g.42004095T>C	VUS	1 lab	fcd7e7c137
8:87738814 CNGB3 T>G	8	87738814	87738814	T	G	CNGB3	c.283A>C	NM_019098.4	NP_061971.3:p.(Thr95Pro)	NC_000008.10:g.87738814T>G	VUS	1 lab	8df12ffe87
2:113514771 CKAP2L A>C	2	113514771	113514771	A	C	CKAP2L	c.177T>G	NM_152515.4	NP_689728.3:p.(Asp59Glu)	NC_000002.11:g.113514771A>C	VUS	1 lab	8df1c64c2f
6:33131506 COL11A2 G>C	6	33131506	33131506	G	C	COL11A2	c.5160C>G	NM_080680.2	NP_542411.2:p.(Ala1720=)	NC_000006.11:g.33131506G>C	(Likely) benign	1 lab	8df1fe0d7a
X:153693170 PLXNA3 C>G	X	153693170	153693170	C	G	PLXNA3	c.2002C>G	NM_017514.4	NP_059984.3:p.(His668Asp)	NC_000023.10:g.153693170C>G	(Likely) benign	1 lab	8df3871dd0
X:100608848 BTK A>G	X	100608848	100608848	A	G	BTK	c.1852+10T>C	NM_001287344.1	NP_001274273.1:p.?	NC_000023.10:g.100608848A>G	(Likely) benign	1 lab	8df4a81d66
7:82784429 PCLO G>A	7	82784429	82784429	G	A	PCLO	c.1528C>T	NM_033026.5	NP_149015.2:p.(Pro510Ser)	NC_000007.13:g.82784429G>A	(Likely) benign	1 lab	8df513a6c6
1:22150629 HSPG2 C>T	1	22150629	22150629	C	T	HSPG2	c.12887G>A	NM_001291860.1	NP_001278789.1:p.(Arg4296Gln)	NC_000001.10:g.22150629C>T	VUS	1 lab	8df544862c
2:241715299 KIF1A G>A	2	241715299	241715299	G	A	KIF1A	c.927C>T	NM_001244008.1	NP_001230937.1:p.(Ser309=)	NC_000002.11:g.241715299G>A	(Likely) benign	1 lab	8df5a31d83
1:65854087 DNAJC6 A>G	1	65854087	65854087	A	G	DNAJC6	c.1182A>G	NM_001256864.2	NP_001243793.1:p.(Leu394=)	NC_000001.10:g.65854087A>G	(Likely) benign	1 lab	8df5e798e2
14:21896333 CHD8 T>C	14	21896333	21896333	T	C	CHD8	c.1296A>G	NM_001170629.1	NP_001164100.1:p.(Ser432=)	NC_000014.8:g.21896333T>C	(Likely) benign	1 lab	8df76c2d09
8:61654366 CHD7 C>G	8	61654366	61654366	C	G	CHD7				NC_000008.10:g.61654366C>G	VUS	1 lab	8dfa91ca70
19:11034677 YIPF2 T>TG	19	11034677	11034685	T	TG	YIPF2	c.485-3dup	NM_024029.4	NP_076934.1:p.?	NC_000019.9:g.11034685dup	(Likely) benign	1 lab	8dfaacd3bf
X:147024736 FMR1 G>C	X	147024736	147024736	G	C	FMR1	c.1361G>C	NM_002024.5	NP_002015.1:p.(Arg454Pro)	NC_000023.10:g.147024736G>C	VUS	1 lab	8dfbb20225
16:2107156 TSC2 CAT>C	16	2107156	2107158	CAT	C	TSC2	c.826_827del	NM_000548.5	NP_000539.2:p.(Met276ValfsTer61)	NC_000016.9:g.2107157_2107158del	(Likely) pathogenic	1 lab	8dfc17ae9f
15:68582073 FEM1B G>A	15	68582073	68582073	G	A	FEM1B	c.377G>A	NM_015322.5	NP_056137.1:p.(Arg126Gln)	NC_000015.9:g.68582073G>A	(Likely) pathogenic	1 lab	8dfdde6756
15:28361811 HERC2 C>T	15	28361811	28361811	C	T	HERC2	c.13609G>A	NM_004667.5	NP_004658.3:p.(Gly4537Ser)	NC_000015.9:g.28361811C>T	VUS	1 lab	8dfe20abac
8:77896093 PEX2 C>G	8	77896093	77896093	C	G	PEX2	c.322G>C	NM_001172086.1	NP_001165557.1:p.(Val108Leu)	NC_000008.10:g.77896093C>G	(Likely) benign	1 lab	8dffe1bf2d
8:61777748 CHD7 T>G	8	61777748	61777748	T	G	CHD7				NC_000008.10:g.61777748T>G	(Likely) benign	1 lab	8e01d00f9e
1:185902765 HMCN1 C>T	1	185902765	185902765	C	T	HMCN1	c.1637C>T	NM_031935.2	NP_114141.2:p.(Ala546Val)	NC_000001.10:g.185902765C>T	(Likely) benign	1 lab	8e01ebaa8b
1:38512086 POU3F1 T>G	1	38512086	38512086	T	G	POU3F1	c.330A>C	NM_002699.3	NP_002690.3:p.(Gly110=)	NC_000001.10:g.38512086T>G	(Likely) benign	1 lab	8e01eed272
1:11294196 MTOR T>G	1	11294196	11294196	T	G	MTOR	c.2331+4A>C	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11294196T>G	(Likely) benign	1 lab	fcd9d4660a
X:17070559 REPS2 C>G	X	17070559	17070559	C	G	REPS2	c.962C>G	NM_004726.2	NP_004717.2:p.(Ser321Cys)	NC_000023.10:g.17070559C>G	VUS	1 lab	8e0227f9c4
19:12923912 RNASEH2A C>T	19	12923912	12923912	C	T	RNASEH2A	c.653C>T	NM_006397.2	NP_006388.2:p.(Ala218Val)	NC_000019.9:g.12923912C>T	(Likely) benign	1 lab	8e046bbf2d
10:26436440 MYO3A G>A	10	26436440	26436440	G	A	MYO3A	c.2587G>A	NM_017433.5	NP_059129.3:p.(Asp863Asn)	NC_000010.10:g.26436440G>A	(Likely) benign	1 lab	8e053fcad4
2:202050795 CASP10 A>G	2	202050795	202050795	A	G	CASP10	c.295A>G	NM_032977.3	NP_116759.2:p.(Lys99Glu)	NC_000002.11:g.202050795A>G	(Likely) benign	1 lab	8e06efd604
22:21349016 LZTR1 G>C	22	21349016	21349016	G	C	LZTR1	c.1785G>C	NM_006767.3	NP_006758.2:p.(Lys595Asn)	NC_000022.10:g.21349016G>C	VUS	1 lab	8e07bec4a1
X:41333444 NYX G>A	X	41333444	41333444	G	A	NYX	c.738G>A	NM_022567.2	NP_072089.1:p.(Pro246=)	NC_000023.10:g.41333444G>A	(Likely) benign	1 lab	8e09b08880
2:113885240 IL1RN T>A	2	113885240	113885240	T	A	IL1RN	c.39T>A	NM_173842.2	NP_776214.1:p.(Thr13=)	NC_000002.11:g.113885240T>A	(Likely) benign	1 lab	8e09b593b3
16:88923239 GALNS A>C	16	88923239	88923239	A	C	GALNS	c.47T>G	NM_000512.4	NP_000503.1:p.(Val16Gly)	NC_000016.9:g.88923239A>C	VUS	1 lab	8e09e9406e
11:2929552 SLC67A1 A>G	11	2929552	2929552	A	G	SLC67A1	c.234A>G	NM_183233.3	NP_899056.2:p.(Val78=)	NC_000011.9:g.2929552A>G	(Likely) benign	1 lab	fce0e6264f
4:16025934 PROM1 C>T	4	16025934	16025934	C	T	PROM1	c.651G>A	NM_001145847.1	NP_001139319.1:p.(Ala217=)	NC_000004.11:g.16025934C>T	(Likely) benign	1 lab	8e0b6a0033
X:2861149 ARSL T>C	X	2861149	2861149	T	C	ARSL	c.1158A>G	NM_001282628.1	NP_001269557.1:p.(Gln386=)	NC_000023.10:g.2861149T>C	(Likely) benign	1 lab	8e0bd131e0
17:7125523 ACADVL G>A	17	7125523	7125523	G	A	ACADVL	c.552G>A	NM_001270448.1	NP_001257377.1:p.(Thr184=)	NC_000017.10:g.7125523G>A	(Likely) benign	1 lab	8e0bfb0d20
1:7724770 CAMTA1 G>A	1	7724770	7724770	G	A	CAMTA1	c.2163G>A	NM_015215.3	NP_056030.1:p.(Pro721=)	NC_000001.10:g.7724770G>A	(Likely) benign	1 lab	8e0c0aee22
2:233675960 GIGYF2 A>G	2	233675960	233675960	A	G	GIGYF2	c.1905A>G	NM_015575.3	NP_056390.2:p.(Gln635=)	NC_000002.11:g.233675960A>G	(Likely) benign	1 lab	8e0de09034
1:39929312 MACF1 G>T	1	39929312	39929312	G	T	MACF1	c.15530G>T	NM_012090.5	NP_036222.3:p.(Cys5177Phe)	NC_000001.10:g.39929312G>T	VUS	1 lab	8e0e0db0e9
13:84454241 SLITRK1 T>C	13	84454241	84454241	T	C	SLITRK1	c.1402A>G	NM_052910.2	NP_443142.1:p.(Asn468Asp)	NC_000013.10:g.84454241T>C	(Likely) benign	1 lab	8e0e7e84fd
17:18024142 MYO15A C>A	17	18024142	18024142	C	A	MYO15A	c.2028C>A	NM_016239.3	NP_057323.3:p.(Pro676=)	NC_000017.10:g.18024142C>A	(Likely) benign	1 lab	8e0ea20f07
11:2906636 CDKN1C G>A	11	2906636	2906636	G	A	CDKN1C	c.84C>T	NM_000076.2	NP_000067.1:p.(Ser28=)	NC_000011.9:g.2906636G>A	(Likely) benign	1 lab	8e10da1200
1:63018491 DOCK7 C>T	1	63018491	63018491	C	T	DOCK7	c.2678G>A	NM_001367561.1	NP_001354490.1:p.(Arg893His)	NC_000001.10:g.63018491C>T	VUS	1 lab	8e1224801a
10:85958847 CDHR1 C>T	10	85958847	85958847	C	T	CDHR1	c.408C>T	NM_033100.4	NP_149091.1:p.(Ile136=)	NC_000010.10:g.85958847C>T	(Likely) benign	1 lab	8e15124121
X:152806995 ATP2B3 G>A	X	152806995	152806995	G	A	ATP2B3	c.387G>A	NM_021949.3	NP_068768.2:p.(Pro129=)	NC_000023.10:g.152806995G>A	(Likely) benign	1 lab	8e1574501a
11:118962142 HMBS G>A	11	118962142	118962142	G	A	HMBS	c.518G>A	NM_000190.4	NP_000181.2:p.(Arg173Gln)	NC_000011.9:g.118962142G>A	(Likely) pathogenic	1 lab	8e15a19eaf
3:150659402 CLRN1 G>A	3	150659402	150659402	G	A	CLRN1	c.400C>T	NM_001195794.1	NP_001182723.1:p.(Pro134Ser)	NC_000003.11:g.150659402G>A	VUS	1 lab	8e174cd5b4
9:126135699 CRB2 GGAGCGCCCGGCGGCCA>G	9	126135699	126135715	GGAGCGCCCGGCGGCCA	G	CRB2	c.2890_2905del	NM_173689.7	NP_775960.4:p.(Glu964ProfsTer172)	NC_000009.11:g.126135700_126135715del	(Likely) pathogenic	1 lab	8e178202f7
1:151374038 PSMB4 C>T	1	151374038	151374038	C	T	PSMB4	c.714C>T	NM_002796.3	NP_002787.2:p.(Thr238=)	NC_000001.10:g.151374038C>T	(Likely) benign	1 lab	8e1872817e
7:103338326 RELN G>T	7	103338326	103338326	G	T	RELN	c.1117C>A	NM_005045.3	NP_005036.2:p.(Leu373Ile)	NC_000007.13:g.103338326G>T	VUS	1 lab	8e1e182ff0
6:152730222 SYNE1 G>A	6	152730222	152730222	G	A	SYNE1	c.6521C>T	NM_182961.3	NP_892006.3:p.(Thr2174Ile)	NC_000006.11:g.152730222G>A	VUS	1 lab	8e1eb3dfda
1:150532271 ADAMTSL4 G>A	1	150532271	150532271	G	A	ADAMTSL4	c.3047G>A	NM_001288608.1	NP_001275537.1:p.(Arg1016Gln)	NC_000001.10:g.150532271G>A	VUS	1 lab	8e1efbb65e
16:89813093 FANCA G>C	16	89813093	89813093	G	C	FANCA	c.3412C>G	NM_001286167.2	NP_001273096.1:p.(Leu1138Val)	NC_000016.9:g.89813093G>C	(Likely) benign	1 lab	8e20170e2a
12:109458666 LOC127825003 T>C	12	109458666	109458666	T	C	LOC127825003				NC_000012.11:g.109458666T>C	VUS	1 lab	8e203f7d23
17:29563039 NF1 G>C	17	29563039	29563039	G	C	NF1	c.3974G>C	NM_000267.3	NP_000258.1:p.(Arg1325Thr)	NC_000017.10:g.29563039G>C	(Likely) pathogenic	1 lab	8e21b9eeec
9:135786949 TSC1 G>GGAAGTAGC	9	135786949	135786950	G	GGAAGTAGC	TSC1	c.919_920insGCTACTTC	NM_000368.4	NP_000359.1:p.(Ala307GlyfsTer14)	NC_000009.11:g.135786949_135786950insGAAGTAGC	(Likely) pathogenic	1 lab	8e2326c9d1
9:43627473 SPATA31A6 T>C	9	43627473	43627473	T	C	SPATA31A6	c.1214A>G	NM_001145196.1	NP_001138668.1:p.(Gln405Arg)	NC_000009.11:g.43627473T>C	(Likely) benign	1 lab	8e23d24e85
18:67817189 RTTN G>T	18	67817189	67817189	G	T	RTTN	c.2172+18C>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67817189G>T	(Likely) benign	1 lab	8e25b445f6
17:76420193 DNAH17 G>A	17	76420193	76420193	G	A	DNAH17	c.13183C>T	NM_173628.3	NP_775899.3:p.(Arg4395Trp)	NC_000017.10:g.76420193G>A	VUS	1 lab	8e27d8681a
X:23748966 ACOT9 C>T	X	23748966	23748966	C	T	ACOT9	c.122G>A	NM_001330259.1	NP_001317188.1:p.(Arg41Gln)	NC_000023.10:g.23748966C>T	VUS	1 lab	8e2a58a399
5:171785773 SH3PXD2B C>T	5	171785773	171785773	C	T	SH3PXD2B	c.667+4G>A	NM_001017995.2	NP_001017995.1:p.?	NC_000005.9:g.171785773C>T	(Likely) benign	1 lab	8e2a782a46
7:117180291 CFTR T>A	7	117180291	117180291	T	A	CFTR	c.1007T>A	NM_000492.3	NP_000483.3:p.(Ile336Lys)	NC_000007.13:g.117180291T>A	(Likely) pathogenic	1 lab	8e2afbac04
10:30604886 MTPAP A>G	10	30604886	30604886	A	G	MTPAP	c.1386+6T>C	NM_018109.3	NP_060579.3:p.?	NC_000010.10:g.30604886A>G	(Likely) benign	1 lab	8e2b09869b
9:100616715 FOXE1 C>A	9	100616715	100616715	C	A	FOXE1	c.519C>A	NM_004473.3	NP_004464.2:p.(Ala173=)	NC_000009.11:g.100616715C>A	(Likely) benign	1 lab	8e2b757d54
15:89169946 AEN G>A	15	89169946	89169946	G	A	AEN	c.506G>A	NM_022767.4	NP_073604.3:p.(Arg169His)	NC_000015.9:g.89169946G>A	(Likely) benign	1 lab	8e2ed7e48b
X:73964186 NEXMIF G>A	X	73964186	73964186	G	A	NEXMIF	c.206C>T	NM_001008537.2	NP_001008537.1:p.(Ser69Phe)	NC_000023.10:g.73964186G>A	(Likely) benign	1 lab	8e2f759371
18:29218693 B4GALT6 G>A	18	29218693	29218693	G	A	B4GALT6	c.502C>T	NM_004775.3	NP_004766.2:p.(His168Tyr)	NC_000018.9:g.29218693G>A	(Likely) benign	1 lab	8e2fc9612e
15:62239450 VPS13C A>G	15	62239450	62239450	A	G	VPS13C	c.4818T>C	NM_001018088.2	NP_001018098.1:p.(Asn1606=)	NC_000015.9:g.62239450A>G	(Likely) benign	1 lab	8e3032b323
11:67815421 TCIRG1 C>T	11	67815421	67815421	C	T	TCIRG1	c.642C>T	NM_001351059.1	NP_001337988.1:p.(Tyr214=)	NC_000011.9:g.67815421C>T	(Likely) benign	1 lab	8e319b2392
X:153178881 ARHGAP4 G>A	X	153178881	153178881	G	A	ARHGAP4	c.1428C>T	NM_001164741.1	NP_001158213.1:p.(Thr476=)	NC_000023.10:g.153178881G>A	(Likely) benign	1 lab	8e32699ab3
4:42964936 GRXCR1 C>T	4	42964936	42964936	C	T	GRXCR1	c.412C>T	NM_001080476.2	NP_001073945.1:p.(Arg138Cys)	NC_000004.11:g.42964936C>T	(Likely) pathogenic	1 lab	8e33ae349d
16:2122257 TSC2 G>C	16	2122257	2122257	G	C	TSC2	c.2113G>C	NM_001114382.2	NP_001107854.1:p.(Val705Leu)	NC_000016.9:g.2122257G>C	VUS	1 lab	8e39363f00
10:68040346 CTNNA3 G>T	10	68040346	68040346	G	T	CTNNA3	c.1766C>A	NM_013266.3	NP_037398.2:p.(Ala589Asp)	NC_000010.10:g.68040346G>T	VUS	1 lab	8e3a6e2c2d
8:10480257 RP1L1 C>T	8	10480257	10480257	C	T	RP1L1	c.455G>A	NM_178857.5	NP_849188.4:p.(Arg152Gln)	NC_000008.10:g.10480257C>T	VUS	1 lab	8e3e42175b
11:70644651 SHANK2 G>A	11	70644651	70644651	G	A	SHANK2	c.1674C>T	NM_012309.4	NP_036441.2:p.(Ile558=)	NC_000011.9:g.70644651G>A	(Likely) benign	1 lab	8e3f4c9c40
1:152193158 HRNR G>A	1	152193158	152193158	G	A	HRNR	c.947C>T	NM_001009931.2	NP_001009931.1:p.(Ser316Leu)	NC_000001.10:g.152193158G>A	(Likely) benign	1 lab	8e3f8acb07
3:48508081 TREX1 G>A	3	48508081	48508081	G	A	TREX1	c.27G>A	NM_033629.6	NP_338599.1:p.(Gly9=)	NC_000003.11:g.48508081G>A	(Likely) benign	1 lab	8e42624ee1
9:6553428 GLDC G>A	9	6553428	6553428	G	A	GLDC	c.2397C>T	NM_000170.2	NP_000161.2:p.(Thr799=)	NC_000009.11:g.6553428G>A	(Likely) benign	1 lab	8e4324c51b
17:29562791 NF1 G>T	17	29562791	29562791	G	T	NF1	c.3870+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562791G>T	(Likely) pathogenic	1 lab	8e43dd0de4
20:62327011 RTEL1 C>T	20	62327011	62327011	C	T	RTEL1	c.3822+8C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62327011C>T	(Likely) benign	1 lab	8e4423e973
19:3981373 EEF2 G>A	19	3981373	3981373	G	A	EEF2	c.975C>T	NM_001961.3	NP_001952.1:p.(Ser325=)	NC_000019.9:g.3981373G>A	(Likely) benign	1 lab	8e46503a51
X:47422410 ARAF C>T	X	47422410	47422410	C	T	ARAF	c.44C>T	NM_001256196.1	NP_001243125.1:p.(Ser15Phe)	NC_000023.10:g.47422410C>T	VUS	1 lab	8e48ac2c5e
19:45396183 TOMM40 A>G	19	45396183	45396183	A	G	TOMM40	c.432A>G	NM_001128917.1	NP_001122389.1:p.(Thr144=)	NC_000019.9:g.45396183A>G	(Likely) benign	1 lab	8e4ab617b5
9:134385750 POMT1 G>A	9	134385750	134385750	G	A	POMT1	c.707G>A	NM_001353198.1	NP_001340127.1:p.(Arg236His)	NC_000009.11:g.134385750G>A	VUS	1 lab	8e4c08e08c
X:18969322 PHKA2 G>A	X	18969322	18969322	G	A	PHKA2	c.354C>T	NM_000292.2	NP_000283.1:p.(Thr118=)	NC_000023.10:g.18969322G>A	(Likely) benign	1 lab	8e4c3e1607
16:89357554 ANKRD11 C>T	16	89357554	89357554	C	T	ANKRD11	c.264G>A	NM_001256182.1	NP_001243111.1:p.(Glu88=)	NC_000016.9:g.89357554C>T	(Likely) benign	1 lab	8e4cd46a99
5:1239598 SLC6A18 G>A	5	1239598	1239598	G	A	SLC6A18	c.766G>A	NM_182632.3	NP_872438.2:p.(Asp256Asn)	NC_000005.9:g.1239598G>A	VUS	1 lab	8e4d920143
12:69125463 NUP107 T>C	12	69125463	69125463	T	C	NUP107	c.1875T>C	NM_001330192.1	NP_001317121.1:p.(His625=)	NC_000012.11:g.69125463T>C	(Likely) benign	1 lab	8e4dc79421
6:64436565 EYS T>C	6	64436565	64436565	T	C	EYS	c.8143A>G	NM_001292009.1	NP_001278938.1:p.(Ile2715Val)	NC_000006.11:g.64436565T>C	VUS	1 lab	8e4ecc383c
X:48337468 FTSJ1 C>T	X	48337468	48337468	C	T	FTSJ1	c.325C>T	NM_177439.2	NP_803188.1:p.(Pro109Ser)	NC_000023.10:g.48337468C>T	(Likely) benign	1 lab	8e4fc79536
12:6143953 VWF C>A	12	6143953	6143953	C	A	VWF	c.2586G>T	NM_000552.3	NP_000543.2:p.(Val862=)	NC_000012.11:g.6143953C>A	(Likely) benign	1 lab	8e50d75850
11:581522 PHRF1 G>A	11	581522	581522	G	A	PHRF1	c.10G>A	NM_001286581.2	NP_001273510.1:p.(Asp4Asn)	NC_000011.9:g.581522G>A	VUS	1 lab	8e51614d7d
19:48640276 LIG1 C>T	19	48640276	48640276	C	T	LIG1	c.1317G>A	NM_001320970.1	NP_001307899.1:p.(Arg439=)	NC_000019.9:g.48640276C>T	(Likely) benign	1 lab	8e54b970cc
6:139237095 REPS1 C>T	6	139237095	139237095	C	T	REPS1	c.1620G>A	NM_001286611.1	NP_001273540.1:p.(Ser540=)	NC_000006.11:g.139237095C>T	(Likely) benign	1 lab	8e57d84c64
3:121720630 ILDR1 G>A	3	121720630	121720630	G	A	ILDR1	c.461C>T	NM_001199799.1	NP_001186728.1:p.(Ser154Leu)	NC_000003.11:g.121720630G>A	VUS	1 lab	8e5a4e601e
16:88808701 PIEZO1 G>A	16	88808701	88808701	G	A	PIEZO1	c.283+7C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88808701G>A	(Likely) benign	1 lab	8e5b7b9171
4:650765 PDE6B A>G	4	650765	650765	A	G	PDE6B	c.1210A>G	NM_000283.3	NP_000274.2:p.(Arg404Gly)	NC_000004.11:g.650765A>G	VUS	1 lab	8e5c05f624
20:62326853 RTEL1 C>G	20	62326853	62326853	C	G	RTEL1	c.3672C>G	NM_001283009.1	NP_001269938.1:p.(Asp1224Glu)	NC_000020.10:g.62326853C>G	(Likely) benign	1 lab	8e5c534d97
1:100672110 DBT A>T	1	100672110	100672110	A	T	DBT	c.1100T>A	NM_001918.3	NP_001909.3:p.(Ile367Lys)	NC_000001.10:g.100672110A>T	VUS	1 lab	8e5eaec4ce
X:101910229 GPRASP1 G>A	X	101910229	101910229	G	A	GPRASP1	c.1388G>A	NM_001184727.1	NP_001171656.1:p.(Arg463His)	NC_000023.10:g.101910229G>A	(Likely) benign	1 lab	8e5fc3caae
7:146536912 CNTNAP2 C>T	7	146536912	146536912	C	T	CNTNAP2	c.318C>T	NM_014141.5	NP_054860.1:p.(Ser106=)	NC_000007.13:g.146536912C>T	(Likely) benign	1 lab	8e5fd2cc09
21:47848433 PCNT A>G	21	47848433	47848433	A	G	PCNT	c.7619A>G	NM_006031.6	NP_006022.3:p.(Gln2540Arg)	NC_000021.8:g.47848433A>G	VUS	1 lab	fce5620e93
17:29663932 NF1 G>A	17	29663932	29663932	G	A	NF1	c.6364G>A	NM_000267.3	NP_000258.1:p.(Glu2122Lys)	NC_000017.10:g.29663932G>A	(Likely) pathogenic	1 lab	8e6040362b
14:21861683 CHD8 AG>A	14	21861683	21861684	AG	A	CHD8	c.6270del	NM_001170629.2	NP_001164100.1:p.(Ser2091ProfsTer16)	NC_000014.8:g.21861684del	(Likely) pathogenic	1 lab	8e608d3690
1:161642981 FCGR2B C>T	1	161642981	161642981	C	T	FCGR2B	c.608C>T	NM_004001.4	NP_003992.3:p.(Thr203Met)	NC_000001.10:g.161642981C>T	(Likely) benign	1 lab	8e6177f105
2:182409429 CERKL G>T	2	182409429	182409429	G	T	CERKL	c.1441C>A	NM_001030311.2	NP_001025482.1:p.(Gln481Lys)	NC_000002.11:g.182409429G>T	VUS	1 lab	8e61c957ec
3:14220068 XPC T>C	3	14220068	14220068	T	C	XPC	c.1A>G	NM_004628.4	NP_004619.3:p.(Met1?)	NC_000003.11:g.14220068T>C	VUS	1 lab	8e6349ae64
11:124793671 HEPACAM G>A	11	124793671	124793671	G	A	HEPACAM	c.663C>T	NM_152722.4	NP_689935.2:p.(Asn221=)	NC_000011.9:g.124793671G>A	(Likely) benign	1 lab	8e63e6b0fa
2:163128888 IFIH1 G>A	2	163128888	163128888	G	A	IFIH1	c.2464C>T	NM_022168.4	NP_071451.2:p.(Arg822Ter)	NC_000002.11:g.163128888G>A	VUS	1 lab	8e63f6e0b6
17:29482977 NF1 G>GT	17	29482977	29482987	G	GT	NF1	c.61-14dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29482987dup	(Likely) benign	1 lab	8e64dad4b3
19:36595696 WDR62 C>T	19	36595696	36595696	C	T	WDR62	c.4338C>T	NM_001083961.1	NP_001077430.1:p.(Thr1446=)	NC_000019.9:g.36595696C>T	(Likely) benign	1 lab	8e66452d54
X:129189845 BCORL1 C>A	X	129189845	129189845	C	A	BCORL1	c.5092C>A	NM_001184772.2	NP_001171701.1:p.(Leu1698Ile)	NC_000023.10:g.129189845C>A	(Likely) benign	1 lab	8e669196f5
10:18828186 CACNB2 C>T	10	18828186	18828186	C	T	CACNB2	c.1351C>T	NM_000724.3	NP_000715.2:p.(Arg451Cys)	NC_000010.10:g.18828186C>T	(Likely) benign	1 lab	8e6732d069
X:154327635 BRCC3 C>T	X	154327635	154327635	C	T	BRCC3	c.594C>T	NM_024332.3	NP_077308.1:p.(Ile198=)	NC_000023.10:g.154327635C>T	(Likely) benign	1 lab	8e67eb7d99
14:105415802 AHNAK2 G>A	14	105415802	105415802	G	A	AHNAK2	c.5986C>T	NM_138420.3	NP_612429.2:p.(Pro1996Ser)	NC_000014.8:g.105415802G>A	(Likely) benign	1 lab	8e68389ce0
4:110790878 LRIT3 G>T	4	110790878	110790878	G	T	LRIT3	c.973G>T	NM_198506.4	NP_940908.3:p.(Asp325Tyr)	NC_000004.11:g.110790878G>T	VUS	1 lab	8e694f8401
4:57797533 REST C>G	4	57797533	57797533	C	G	REST	c.2509C>G	NM_001363453.1	NP_001350382.1:p.(Leu837Val)	NC_000004.11:g.57797533C>G	VUS	1 lab	8e6b068e11
1:236143950 NID1 G>T	1	236143950	236143950	G	T	NID1	c.3231C>A	NM_002508.2	NP_002499.2:p.(Asn1077Lys)	NC_000001.10:g.236143950G>T	VUS	1 lab	8e6b6e82f3
14:31348065 COCH T>C	14	31348065	31348065	T	C	COCH	c.483T>C	NM_001347720.1	NP_001334649.1:p.(Pro161=)	NC_000014.8:g.31348065T>C	(Likely) benign	1 lab	8e6b74cb90
19:58982975 ZNF324 A>G	19	58982975	58982975	A	G	ZNF324	c.1116A>G	NM_014347.3	NP_055162.1:p.(Ala372=)	NC_000019.9:g.58982975A>G	(Likely) benign	1 lab	8e6bba45da
4:170429443 NEK1 A>T	4	170429443	170429443	A	T	NEK1	c.1789T>A	NM_001199397.1	NP_001186326.1:p.(Phe597Ile)	NC_000004.11:g.170429443A>T	VUS	1 lab	8e6bd739bb
X:119388846 ZBTB33 T>TA	X	119388846	119388847	T	TA	ZBTB33	c.1577dup	NM_001184742.2	NP_001171671.1:p.(Tyr526Ter)	NC_000023.10:g.119388847dup	VUS	1 lab	8e6cffddf0
19:9072471 MUC16 T>C	19	9072471	9072471	T	C	MUC16	c.14975A>G	NM_024690.2	NP_078966.2:p.(Asp4992Gly)	NC_000019.9:g.9072471T>C	(Likely) benign	1 lab	8e6d028561
12:132505688 EP400 G>A	12	132505688	132505688	G	A	EP400	c.4512G>A	NM_015409.4	NP_056224.3:p.(Ser1504=)	NC_000012.11:g.132505688G>A	(Likely) benign	1 lab	8e6e68d8be
10:92678743 ANKRD1 AAATAAATATATATAT>A	10	92678743	92678759	AAATAAATATATATAT	A	ANKRD1	c.346-29_346-15del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678745_92678759del	(Likely) benign	1 lab	fcf2031cdc
3:52360901 DNAH1 A>G	3	52360901	52360901	A	G	DNAH1	c.732A>G	NM_015512.4	NP_056327.4:p.(Pro244=)	NC_000003.11:g.52360901A>G	(Likely) benign	1 lab	8e701df496
19:45888927 PPP1R13L T>G	19	45888927	45888927	T	G	PPP1R13L	c.2141A>C	NM_006663.4	NP_006654.2:p.(Gln714Pro)	NC_000019.9:g.45888927T>G	(Likely) benign	1 lab	8e70d1b385
2:159530233 PKP4 C>T	2	159530233	159530233	C	T	PKP4	c.2969C>T	NM_003628.4	NP_003619.2:p.(Thr990Ile)	NC_000002.11:g.159530233C>T	VUS	1 lab	8e7179ce0d
20:2843255 VPS16 C>T	20	2843255	2843255	C	T	VPS16	c.1102C>T	NM_022575.4	NP_072097.2:p.(Arg368Trp)	NC_000020.10:g.2843255C>T	(Likely) benign	1 lab	fcf57e6b88
1:175323634 TNR G>T	1	175323634	175323634	G	T	TNR	c.3275C>A	NM_003285.2	NP_003276.3:p.(Thr1092Asn)	NC_000001.10:g.175323634G>T	VUS	1 lab	8e720f9afa
16:79633492 MAF G>T	16	79633492	79633492	G	T	MAF	c.308C>A	NM_005360.5	NP_005351.2:p.(Pro103His)	NC_000016.9:g.79633492G>T	(Likely) benign	1 lab	fcf5ac4cb3
5:169535607 FOXI1 G>A	5	169535607	169535607	G	A	FOXI1	c.1129G>A	NM_012188.4	NP_036320.2:p.(Glu377Lys)	NC_000005.9:g.169535607G>A	VUS	1 lab	8e72f91724
19:44570420 ZNF223 C>T	19	44570420	44570420	C	T	ZNF223	c.439C>T	NM_013361.5	NP_037493.3:p.(Pro147Ser)	NC_000019.9:g.44570420C>T	(Likely) benign	1 lab	8e74fdb23e
1:150530554 ADAMTSL4 C>T	1	150530554	150530554	C	T	ADAMTSL4	c.2380C>T	NM_001288608.1	NP_001275537.1:p.(Arg794Trp)	NC_000001.10:g.150530554C>T	VUS	1 lab	8e7710afea
15:49030665 CEP152 T>C	15	49030665	49030665	T	C	CEP152	c.4914A>G	NM_001194998.1	NP_001181927.1:p.(Pro1638=)	NC_000015.9:g.49030665T>C	(Likely) benign	1 lab	8e77f2b757
X:153760605 G6PD G>A	X	153760605	153760605	G	A	G6PD	c.1450C>T	NM_000402.4	NP_000393.4:p.(Arg484Cys)	NC_000023.10:g.153760605G>A	(Likely) benign	1 lab	8e783a6a49
5:149771561 TCOF1 G>A	5	149771561	149771561	G	A	TCOF1	c.3339G>A	NM_001135243.1	NP_001128715.1:p.(Gln1113=)	NC_000005.9:g.149771561G>A	(Likely) benign	1 lab	8e7a84da5d
9:2652909 VLDLR T>C	9	2652909	2652909	T	C	VLDLR	c.2546T>C	NM_003383.4	NP_003374.3:p.(Ile849Thr)	NC_000009.11:g.2652909T>C	VUS	1 lab	8e7b5ddf6d
3:46934459 PTH1R G>A	3	46934459	46934459	G	A	PTH1R	c.76-938G>A	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46934459G>A	VUS	1 lab	fcf84765e9
22:41527628 EP300 A>G	22	41527628	41527628	A	G	EP300	c.1519A>G	NM_001429.3	NP_001420.2:p.(Ser507Gly)	NC_000022.10:g.41527628A>G	(Likely) benign	1 lab	8e7cba6ca1
19:13319640 CACNA1A C>T	19	13319640	13319640	C	T	CACNA1A	c.6728G>A	NM_023035.2	NP_075461.2:p.(Arg2243Gln)	NC_000019.9:g.13319640C>T	(Likely) benign	1 lab	8e7dd7c2e9
X:46618377 SLC9A7 CCAGCAGCAGCGGCAG>C	X	46618377	46618402	CCAGCAGCAGCGGCAG	C	SLC9A7	c.73_87del	NM_001257291.2	NP_001244220.1:p.(Leu25_Leu29del)	NC_000023.10:g.46618388_46618402del	(Likely) benign	1 lab	8e800bd99a
3:49137518 QARS1 G>A	3	49137518	49137518	G	A	QARS1	c.1171C>T	NM_005051.2	NP_005042.1:p.(Arg391Cys)	NC_000003.11:g.49137518G>A	VUS	1 lab	8e80988d49
6:133777721 EYA4 C>T	6	133777721	133777721	C	T	EYA4	c.305C>T	NM_004100.4	NP_004091.3:p.(Pro102Leu)	NC_000006.11:g.133777721C>T	VUS	1 lab	8e81fb1196
12:44176243 IRAK4 G>T	12	44176243	44176243	G	T	IRAK4	c.703G>T	NM_001351338.1	NP_001338267.1:p.(Ala235Ser)	NC_000012.11:g.44176243G>T	VUS	1 lab	8e83ef23a1
21:36164610 RUNX1 T>G	21	36164610	36164610	T	G	RUNX1	c.1265A>C	NM_001754.5	NP_001745.2:p.(Glu422Ala)	NC_000021.8:g.36164610T>G	VUS	1 lab	fcfb5403d6
1:160105381 ATP1A2 G>C	1	160105381	160105381	G	C	ATP1A2	c.2273G>C	NM_000702.4	NP_000693.1:p.(Gly758Ala)	NC_000001.10:g.160105381G>C	VUS	1 lab	fcff098bca
17:80049131 FASN C>T	17	80049131	80049131	C	T	FASN	c.1459G>A	NM_004104.5	NP_004095.4:p.(Ala487Thr)	NC_000017.10:g.80049131C>T	(Likely) benign	1 lab	8e89d1cfa3
1:61872231 NFIA C>A	1	61872231	61872231	C	A	NFIA	c.1255-3C>A	NM_005595.4	NP_005586.1:p.?	NC_000001.10:g.61872231C>A	VUS	1 lab	8e8a51b5d0
6:135788774 AHI1 T>C	6	135788774	135788774	T	C	AHI1	c.136-2A>G	NM_001350503.1	NP_001337432.1:p.?	NC_000006.11:g.135788774T>C	(Likely) pathogenic	1 lab	8e8ba9a2a8
15:40915277 KNL1 A>T	15	40915277	40915277	A	T	KNL1	c.2893A>T	NM_170589.4	NP_733468.3:p.(Met965Leu)	NC_000015.9:g.40915277A>T	(Likely) benign	1 lab	8e8da5d862
X:47306945 ZNF41 T>C	X	47306945	47306945	T	C	ZNF41	c.2224A>G	NM_153380.3	NP_700359.1:p.(Thr742Ala)	NC_000023.10:g.47306945T>C	VUS	1 lab	fd028f7511
17:60069978 MED13 T>C	17	60069978	60069978	T	C	MED13	c.2186A>G	NM_005121.2	NP_005112.2:p.(Glu729Gly)	NC_000017.10:g.60069978T>C	(Likely) benign	1 lab	8e8e943e89
7:42085075 GLI3 GT>G	7	42085075	42085077	GT	G	GLI3	c.733del	NM_000168.6	NP_000159.3:p.(Thr245LeufsTer65)	NC_000007.13:g.42085077del	(Likely) pathogenic	1 lab	8e9158b446
6:138196020 TNFAIP3 A>G	6	138196020	138196020	A	G	TNFAIP3	c.334A>G	NM_001270507.1	NP_001257436.1:p.(Met112Val)	NC_000006.11:g.138196020A>G	VUS	1 lab	8e92fc2dbe
13:110835527 COL4A1 G>A	13	110835527	110835527	G	A	COL4A1	c.1990+4C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110835527G>A	(Likely) benign	1 lab	8e93847224
1:240371055 FMN2 A>T	1	240371055	240371055	A	T	FMN2	c.2955A>T	NM_001305424.1	NP_001292353.1:p.(Leu985=)	NC_000001.10:g.240371055A>T	(Likely) benign	1 lab	8e93927c25
X:1537918 ASMTL C>T	X	1537918	1537918	C	T	ASMTL	c.1335G>A	NM_004192.3	NP_004183.2:p.(Thr445=)	NC_000023.10:g.1537918C>T	(Likely) benign	1 lab	8e94c7f54b
X:39933967 BCOR T>C	X	39933967	39933967	T	C	BCOR	c.632A>G	NM_001123385.1	NP_001116857.1:p.(Asn211Ser)	NC_000023.10:g.39933967T>C	VUS	1 lab	8e950f9f63
11:108382900 EXPH5 T>A	11	108382900	108382900	T	A	EXPH5	c.3334A>T	NM_015065.3	NP_055880.2:p.(Lys1112Ter)	NC_000011.9:g.108382900T>A	(Likely) pathogenic	1 lab	fd04ead6ce
16:3707236 DNASE1 C>A	16	3707236	3707236	C	A	DNASE1	c.598C>A	NM_005223.3	NP_005214.2:p.(Pro200Thr)	NC_000016.9:g.3707236C>A	(Likely) benign	1 lab	8e954b2966
3:47036951 NBEAL2 C>T	3	47036951	47036951	C	T	NBEAL2	c.1726C>T	NM_015175.2	NP_055990.1:p.(Arg576Cys)	NC_000003.11:g.47036951C>T	VUS	1 lab	8e97127e27
6:56506784 DST A>G	6	56506784	56506784	A	G	DST	c.1889T>C	NM_001144769.2	NP_001138241.1:p.(Ile630Thr)	NC_000006.11:g.56506784A>G	(Likely) benign	1 lab	8e98e9b28f
4:187541739 FAT1 T>C	4	187541739	187541739	T	C	FAT1	c.6001A>G	NM_005245.3	NP_005236.2:p.(Ile2001Val)	NC_000004.11:g.187541739T>C	(Likely) benign	1 lab	8e99c24d3a
2:228228462 TM4SF20 T>G	2	228228462	228228462	T	G	TM4SF20	c.668A>C	NM_024795.4	NP_079071.2:p.(Lys223Thr)	NC_000002.11:g.228228462T>G	(Likely) benign	1 lab	8e9acdd347
12:7053685 C12orf57 A>G	12	7053685	7053685	A	G	C12orf57	c.99A>G	NM_138425.3	NP_612434.1:p.(Ala33=)	NC_000012.11:g.7053685A>G	(Likely) benign	1 lab	8e9af256e1
7:123097569 IQUB G>C	7	123097569	123097569	G	C	IQUB	c.2059C>G	NM_001282855.1	NP_001269784.1:p.(Leu687Val)	NC_000007.13:g.123097569G>C	VUS	1 lab	8e9b6e3a0f
10:75854150 VCL C>T	10	75854150	75854150	C	T	VCL	c.1474C>T	NM_014000.3	NP_054706.1:p.(His492Tyr)	NC_000010.10:g.75854150C>T	VUS	1 lab	fd05a56bf9
16:2124224 TSC2 G>GC	16	2124224	2124225	G	GC	TSC2	c.2380dup	NM_000548.3	NP_000539.2:p.(Gln794ProfsTer24)	NC_000016.9:g.2124225dup	(Likely) pathogenic	1 lab	8e9bed09f8
5:67588926 PIK3R1 C>T	5	67588926	67588926	C	T	PIK3R1	c.1020-3C>T	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67588926C>T	(Likely) benign	1 lab	8e9c37bed9
1:6512087 ESPN G>A	1	6512087	6512087	G	A	ESPN	c.2256G>A	NM_031475.3	NP_113663.2:p.(Glu752=)	NC_000001.10:g.6512087G>A	(Likely) benign	1 lab	8e9e8ec73a
5:60628249 ZSWIM6 CGCGGCGGCG>C	5	60628249	60628267	CGCGGCGGCG	C	ZSWIM6	c.160_168del	NM_020928.2	NP_065979.1:p.(Ala54_Ala56del)	NC_000005.9:g.60628259_60628267del	VUS	1 lab	8e9eac2940
2:179434014 TTN T>C	2	179434014	179434014	T	C	TTN	c.76845A>G	NM_001267550.2	NP_001254479.2:p.(Lys25615=)	NC_000002.11:g.179434014T>C	(Likely) benign	1 lab	fd06487a4a
1:120927163 FCGR1BP G>A	1	120927163	120927163	G	A	FCGR1BP	c.817C>T	NM_001017986.3	NP_001017986.1:p.(Arg273Trp)	NC_000001.10:g.120927163G>A	VUS	1 lab	8e9ef17da3
16:71103289 HYDIN G>A	16	71103289	71103289	G	A	HYDIN	c.1855C>T	NM_001270974.2	NP_001257903.1:p.(His619Tyr)	NC_000016.9:g.71103289G>A	(Likely) benign	1 lab	8e9f72e599
1:41461583 CTPS1 A>T	1	41461583	41461583	A	T	CTPS1	c.721-6A>T	NM_001905.4	NP_001896.2:p.?	NC_000001.10:g.41461583A>T	(Likely) benign	1 lab	8ea007a933
1:234744359 IRF2BP2 T>C	1	234744359	234744359	T	C	IRF2BP2	c.882A>G	NM_182972.2	NP_892017.2:p.(Gly294=)	NC_000001.10:g.234744359T>C	(Likely) benign	1 lab	8ea1466a4b
4:39206770 WDR19 G>T	4	39206770	39206770	G	T	WDR19	c.604-4G>T	NM_025132.3	NP_079408.3:p.?	NC_000004.11:g.39206770G>T	(Likely) benign	1 lab	8ea30b3680
14:105417551 AHNAK2 T>G	14	105417551	105417551	T	G	AHNAK2	c.4237A>C	NM_138420.3	NP_612429.2:p.(Lys1413Gln)	NC_000014.8:g.105417551T>G	(Likely) benign	1 lab	8ea3540c5d
X:123631076 TENM1 G>A	X	123631076	123631076	G	A	TENM1	c.3485C>T	NM_001163278.1	NP_001156750.1:p.(Ser1162Phe)	NC_000023.10:g.123631076G>A	VUS	1 lab	8ea3904a31
7:2976767 CARD11 G>T	7	2976767	2976767	G	T	CARD11	c.1245C>A	NM_001324281.1	NP_001311210.1:p.(Asp415Glu)	NC_000007.13:g.2976767G>T	VUS	1 lab	8ea42bb0e7
16:2129381 TSC2 C>A	16	2129381	2129381	C	A	TSC2	c.3236C>A	NM_000548.3	NP_000539.2:p.(Ser1079Ter)	NC_000016.9:g.2129381C>A	(Likely) pathogenic	1 lab	8ea87d8b2e
3:136047595 PCCB C>T	3	136047595	136047595	C	T	PCCB	c.1459-5C>T	NM_001178014.1	NP_001171485.1:p.?	NC_000003.11:g.136047595C>T	(Likely) benign	1 lab	8ea8be9275
X:153690617 PLXNA3 C>T	X	153690617	153690617	C	T	PLXNA3	c.1284C>T	NM_017514.4	NP_059984.3:p.(Val428=)	NC_000023.10:g.153690617C>T	(Likely) benign	1 lab	8ea9186fbb
2:170042024 LRP2 G>A	2	170042024	170042024	G	A	LRP2	c.9834C>T	NM_004525.3	NP_004516.2:p.(Asp3278=)	NC_000002.11:g.170042024G>A	(Likely) benign	1 lab	8eab2d7fbe
2:179577104 TTN T>C	2	179577104	179577104	T	C	TTN	c.27545A>G	NM_001267550.1	NP_001254479.1:p.(Tyr9182Cys)	NC_000002.11:g.179577104T>C	VUS	1 lab	8eab421a1d
1:220088954 SLC30A10 T>C	1	220088954	220088954	T	C	SLC30A10	c.1295A>G	NM_018713.2	NP_061183.2:p.(Asn432Ser)	NC_000001.10:g.220088954T>C	VUS	1 lab	8ead0767bf
18:21116653 NPC1 G>A	18	21116653	21116653	G	A	NPC1	c.3229C>T	NM_000271.4	NP_000262.2:p.(Arg1077Ter)	NC_000018.9:g.21116653G>A	(Likely) pathogenic	1 lab	8eae25f101
18:67872554 RTTN G>A	18	67872554	67872554	G	A	RTTN	c.32-3C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67872554G>A	(Likely) benign	1 lab	8eaee39052
1:186023068 HMCN1 C>T	1	186023068	186023068	C	T	HMCN1	c.6812C>T	NM_031935.2	NP_114141.2:p.(Ala2271Val)	NC_000001.10:g.186023068C>T	VUS	1 lab	8eb1912d11
5:149776308 TCOF1 C>T	5	149776308	149776308	C	T	TCOF1	c.4245C>T	NM_001135243.1	NP_001128715.1:p.(Asp1415=)	NC_000005.9:g.149776308C>T	(Likely) benign	1 lab	8eb26c6829
X:14883626 FANCB T>C	X	14883626	14883626	T	C	FANCB	c.7A>G	NM_001018113.1	NP_001018123.1:p.(Ser3Gly)	NC_000023.10:g.14883626T>C	(Likely) benign	1 lab	8eb394434d
9:27109594 TEK C>A	9	27109594	27109594	C	A	TEK	c.6C>A	NM_000459.4	NP_000450.2:p.(Asp2Glu)	NC_000009.11:g.27109594C>A	VUS	1 lab	8eb4fac7f8
10:27793319 RAB18 C>T	10	27793319	27793319	C	T	RAB18	c.21C>T	NM_001256410.1	NP_001243339.1:p.(Thr7=)	NC_000010.10:g.27793319C>T	(Likely) benign	1 lab	8eb59825db
21:47572815 FTCD G>A	21	47572815	47572815	G	A	FTCD	c.367+6C>T	NM_001320412.1	NP_001307341.1:p.?	NC_000021.8:g.47572815G>A	(Likely) benign	1 lab	8eb6c63fca
2:25043645 ADCY3 G>A	2	25043645	25043645	G	A	ADCY3	c.3203C>T	NM_001320613.1	NP_001307542.1:p.(Thr1068Ile)	NC_000002.11:g.25043645G>A	VUS	1 lab	8eb6d150ae
8:141554406 AGO2 C>T	8	141554406	141554406	C	T	AGO2	c.1749-4G>A	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141554406C>T	(Likely) benign	1 lab	fd0acdb656
1:32669791 CCDC28B G>A	1	32669791	32669791	G	A	CCDC28B	c.336G>A	NM_001301011.1	NP_001287940.1:p.(Lys112=)	NC_000001.10:g.32669791G>A	(Likely) benign	1 lab	8eb8f3d241
16:53706862 RPGRIP1L G>A	16	53706862	53706862	G	A	RPGRIP1L	c.949C>T	NM_001308334.3	NP_001295263.1:p.(Leu317Phe)	NC_000016.9:g.53706862G>A	VUS	1 lab	fd0b113c1d
5:34937624 DNAJC21 G>A	5	34937624	34937624	G	A	DNAJC21	c.632G>A	NM_194283.3	NP_919259.3:p.(Arg211His)	NC_000005.9:g.34937624G>A	VUS	1 lab	8eb9f7cc21
5:37125464 CPLANE1 C>T	5	37125464	37125464	C	T	CPLANE1	c.8678G>A	NM_023073.3	NP_075561.3:p.(Arg2893Lys)	NC_000005.9:g.37125464C>T	(Likely) benign	1 lab	8ebb983096
17:4905750 KIF1C C>G	17	4905750	4905750	C	G	KIF1C	c.430-9C>G	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4905750C>G	(Likely) benign	1 lab	8ebbd7e688
1:181725191 MISSING G>T	1	181725191	181725191	G	T	MISSING				NC_000001.10:g.181725191G>T	(Likely) benign	1 lab	8ebc8b0184
7:98983366 ARPC1B C>T	7	98983366	98983366	C	T	ARPC1B	c.29C>T	NM_005720.4	NP_005711.1:p.(Pro10Leu)	NC_000007.13:g.98983366C>T	VUS	1 lab	8ebd42477e
13:111145584 COL4A2 G>A	13	111145584	111145584	G	A	COL4A2	c.3589G>A	NM_001846.4	NP_001837.2:p.(Gly1197Ser)	NC_000013.10:g.111145584G>A	VUS	1 lab	fd10540de1
13:103528238 ERCC5 A>G	13	103528238	103528238	A	G	ERCC5	c.3546A>G	NM_000123.3	NP_000114.2:p.(Arg1182=)	NC_000013.10:g.103528238A>G	(Likely) benign	1 lab	8ec0d3c6b7
12:2692072 CACNA1C T>A	12	2692072	2692072	T	A	CACNA1C	c.2188T>A	NM_199460.3	NP_955630.3:p.(Cys730Ser)	NC_000012.11:g.2692072T>A	VUS	1 lab	8ec26b961b
1:45806798 TOE1 G>A	1	45806798	45806798	G	A	TOE1	c.106G>A	NM_025077.4	NP_079353.3:p.(Val36Ile)	NC_000001.10:g.45806798G>A	VUS	1 lab	8f2cbfff76
1:216373159 USH2A G>A	1	216373159	216373159	G	A	USH2A	c.3621C>T	NM_206933.2	NP_996816.2:p.(Ile1207=)	NC_000001.10:g.216373159G>A	(Likely) benign	1 lab	8ec355983e
17:29562921 NF1 C>T	17	29562921	29562921	C	T	NF1	c.3871-15C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562921C>T	(Likely) benign	1 lab	8ec3e7ba81
X:150844553 PASD1 A>T	X	150844553	150844553	A	T	PASD1	c.2260A>T	NM_173493.2	NP_775764.2:p.(Arg754Ter)	NC_000023.10:g.150844553A>T	VUS	1 lab	8ec4246af7
1:6505957 ESPN A>C	1	6505957	6505957	A	C	ESPN	c.1426A>C	NM_031475.3	NP_113663.2:p.(Lys476Gln)	NC_000001.10:g.6505957A>C	(Likely) benign	1 lab	8ec53f6a29
5:140953681 DIAPH1 C>T	5	140953681	140953681	C	T	DIAPH1	c.1736G>A	NM_001314007.1	NP_001300936.1:p.(Arg579His)	NC_000005.9:g.140953681C>T	VUS	1 lab	8ec5aac928
9:139405140 NOTCH1 C>T	9	139405140	139405140	C	T	NOTCH1	c.2705G>A	NM_017617.5	NP_060087.3:p.(Arg902His)	NC_000009.11:g.139405140C>T	VUS	1 lab	8ec5b890f5
2:27693832 IFT172 A>G	2	27693832	27693832	A	G	IFT172	c.1655T>C	NM_015662.2	NP_056477.1:p.(Ile552Thr)	NC_000002.11:g.27693832A>G	VUS	1 lab	8ec68a14fc
X:75003446 MAGEE2 A>G	X	75003446	75003446	A	G	MAGEE2	c.1441T>C	NM_138703.4	NP_619648.1:p.(Leu481=)	NC_000023.10:g.75003446A>G	(Likely) benign	1 lab	8ec6ff83b6
7:42004046 GLI3 C>G	7	42004046	42004046	C	G	GLI3	c.4625G>C	NM_000168.5	NP_000159.3:p.(Arg1542Pro)	NC_000007.13:g.42004046C>G	VUS	1 lab	8ec852fcc6
X:102004866 GPRASP3 A>G	X	102004866	102004866	A	G	GPRASP3	c.943A>G	NM_001142524.2	NP_001135996.1:p.(Lys315Glu)	NC_000023.10:g.102004866A>G	VUS	1 lab	8ecb63fb3d
4:140291417 NAA15 T>C	4	140291417	140291417	T	C	NAA15	c.1806T>C	NM_057175.4	NP_476516.1:p.(Ala602=)	NC_000004.11:g.140291417T>C	(Likely) benign	1 lab	8ecbba3bcb
6:143091155 HIVEP2 G>C	6	143091155	143091155	G	C	HIVEP2	c.4721C>G	NM_006734.3	NP_006725.3:p.(Thr1574Arg)	NC_000006.11:g.143091155G>C	VUS	1 lab	8ed2b9ad92
3:142281251 ATR G>A	3	142281251	142281251	G	A	ATR	c.993C>T	NM_001184.3	NP_001175.2:p.(Asp331=)	NC_000003.11:g.142281251G>A	(Likely) benign	1 lab	8ed38e337a
17:38445654 CDC6 A>G	17	38445654	38445654	A	G	CDC6	c.-13-6A>G	NM_001254.4	NP_001245.1:p.?	NC_000017.10:g.38445654A>G	(Likely) benign	1 lab	8ed4013c8a
X:47058986 UBA1 C>T	X	47058986	47058986	C	T	UBA1	c.453C>T	NM_003334.4	NP_003325.2:p.(Leu151=)	NC_000023.10:g.47058986C>T	(Likely) benign	1 lab	8ed4023fdf
2:73747074 ALMS1 C>T	2	73747074	73747074	C	T	ALMS1	c.9715C>T	NM_015120.4	NP_055935.4:p.(Arg3239Cys)	NC_000002.11:g.73747074C>T	VUS	1 lab	8ed488dbab
19:7620559 PNPLA6 C>T	19	7620559	7620559	C	T	PNPLA6	c.3033C>T	NM_001166111.1	NP_001159583.1:p.(Gly1011=)	NC_000019.9:g.7620559C>T	VUS	1 lab	8ed72c6e05
16:88804671 PIEZO1 G>A	16	88804671	88804671	G	A	PIEZO1	c.812C>T	NM_001142864.4	NP_001136336.2:p.(Ala271Val)	NC_000016.9:g.88804671G>A	VUS	1 lab	8ed7b0d2bb
11:85416049 SYTL2 A>G	11	85416049	85416049	A	G	SYTL2	c.2054T>C	NM_032943.4	NP_116561.1:p.(Leu685Ser)	NC_000011.9:g.85416049A>G	VUS	1 lab	8ed8088968
16:2141448 PKD1 G>A	16	2141448	2141448	G	A	PKD1	c.11688C>T	NM_001009944.2	NP_001009944.2:p.(Gly3896=)	NC_000016.9:g.2141448G>A	(Likely) benign	1 lab	8ed92f39e0
2:43451995 ZFP36L2 C>T	2	43451995	43451995	C	T	ZFP36L2	c.948G>A	NM_006887.5	NP_008818.3:p.(Ser316=)	NC_000002.11:g.43451995C>T	(Likely) benign	1 lab	8ed9cdcd98
17:47482525 PHB1 G>A	17	47482525	47482525	G	A	PHB1	c.648C>T	NM_001281715.1	NP_001268644.1:p.(Gly216=)	NC_000017.10:g.47482525G>A	(Likely) benign	1 lab	8eda290af0
3:46450545 CCRL2 C>A	3	46450545	46450545	C	A	CCRL2	c.975C>A	NM_003965.5	NP_003956.2:p.(Pro325=)	NC_000003.11:g.46450545C>A	(Likely) benign	1 lab	8edbd19f81
9:376203 DOCK8 A>T	9	376203	376203	A	T	DOCK8	c.2110-7A>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.376203A>T	(Likely) benign	1 lab	8edcad5713
7:151174510 RHEB A>G	7	151174510	151174510	A	G	RHEB	c.193-9T>C	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151174510A>G	(Likely) benign	1 lab	8ede8cb405
17:1557179 PRPF8 G>A	17	1557179	1557179	G	A	PRPF8	c.6119C>T	NM_006445.3	NP_006436.3:p.(Thr2040Met)	NC_000017.10:g.1557179G>A	VUS	1 lab	8ee0aa4975
X:153592640 FLNA C>T	X	153592640	153592640	C	T	FLNA	c.2123G>A	NM_001110556.2	NP_001104026.1:p.(Arg708Gln)	NC_000023.10:g.153592640C>T	(Likely) benign	1 lab	8ee0bbec1a
11:6579307 DNHD1 C>T	11	6579307	6579307	C	T	DNHD1	c.8782C>T	NM_144666.2	NP_653267.2:p.(Arg2928Ter)	NC_000011.9:g.6579307C>T	VUS	1 lab	8ee0fc0c3e
16:15818261 MYH11 G>A	16	15818261	15818261	G	A	MYH11	c.4143C>T	NM_001040113.1	NP_001035202.1:p.(Ser1381=)	NC_000016.9:g.15818261G>A	(Likely) benign	1 lab	8ee27360eb
6:160450589 IGF2R C>T	6	160450589	160450589	C	T	IGF2R	c.784C>T	NM_000876.3	NP_000867.2:p.(Leu262=)	NC_000006.11:g.160450589C>T	(Likely) benign	1 lab	8ee3416d66
4:660319 PDE6B G>T	4	660319	660319	G	T	PDE6B	c.2269-1G>T	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.660319G>T	(Likely) pathogenic	1 lab	8ee36d6d4a
17:11572983 DNAH9 G>A	17	11572983	11572983	G	A	DNAH9	c.3225G>A	NM_001372.3	NP_001363.2:p.(Leu1075=)	NC_000017.10:g.11572983G>A	(Likely) benign	1 lab	8ee46483e2
7:18914114 HDAC9 C>G	7	18914114	18914114	C	G	HDAC9	c.2623C>G	NM_001321868.1	NP_001308797.1:p.(Pro875Ala)	NC_000007.13:g.18914114C>G	VUS	1 lab	8ee4c66e35
15:51855608 DMXL2 A>G	15	51855608	51855608	A	G	DMXL2	c.537T>C	NM_001174116.1	NP_001167587.1:p.(Pro179=)	NC_000015.9:g.51855608A>G	(Likely) benign	1 lab	8ee4e0a6e7
2:25972654 ASXL2 G>A	2	25972654	25972654	G	A	ASXL2	c.1771C>T	NM_018263.5	NP_060733.4:p.(Arg591Cys)	NC_000002.11:g.25972654G>A	VUS	1 lab	8ee6cc2670
12:88478403 CEP290 ACTT>A	12	88478403	88478412	ACTT	A	CEP290	c.4661_4663del	NM_025114.4	NP_079390.3:p.(Glu1554del)	NC_000012.11:g.88478410_88478412del	(Likely) pathogenic	1 lab	8ee7135b40
15:41388130 INO80 TA>T	15	41388130	41388133	TA	T	INO80	c.144-5del	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41388133del	(Likely) benign	1 lab	8ee7cf896d
X:47430813 ARAF A>C	X	47430813	47430813	A	C	ARAF	c.1787A>C	NM_001256196.1	NP_001243125.1:p.(Glu596Ala)	NC_000023.10:g.47430813A>C	(Likely) benign	1 lab	8ee83f23ee
19:50100190 PRR12 C>T	19	50100190	50100190	C	T	PRR12	c.2598C>T	NM_020719.2	NP_065770.1:p.(Pro866=)	NC_000019.9:g.50100190C>T	(Likely) benign	1 lab	8ee9704645
1:234601456 TARBP1 T>TAAAAAA	1	234601456	234601475	T	TAAAAAA	TARBP1	c.1249-8_1249-3dup	NM_005646.4	NP_005637.3:p.?	NC_000001.10:g.234601470_234601475dup	(Likely) benign	1 lab	8ee976933d
7:42017252 GLI3 C>A	7	42017252	42017252	C	A	GLI3	c.1717G>T	NM_000168.5	NP_000159.3:p.(Glu573Ter)	NC_000007.13:g.42017252C>A	(Likely) pathogenic	1 lab	8eea741717
2:8967109 KIDINS220 G>T	2	8967109	8967109	G	T	KIDINS220	c.108+7C>A	NM_020738.3	NP_065789.1:p.?	NC_000002.11:g.8967109G>T	(Likely) benign	1 lab	8eede4db44
17:71193397 COG1 G>T	17	71193397	71193397	G	T	COG1	c.775G>T	NM_018714.2	NP_061184.1:p.(Val259Leu)	NC_000017.10:g.71193397G>T	(Likely) benign	1 lab	8eef8a6acd
17:39913718 JUP G>A	17	39913718	39913718	G	A	JUP	c.1995C>T	NM_002230.2	NP_002221.1:p.(Ser665=)	NC_000017.10:g.39913718G>A	(Likely) benign	1 lab	8eeff66a12
2:187368931 ZC3H15 TTGAG>T	2	187368931	187368935	TTGAG	T	ZC3H15	c.708_711del	NM_018471.3	NP_060941.2:p.(Arg238SerfsTer5)	NC_000002.11:g.187368932_187368935del	VUS	1 lab	8ef1128e6f
X:17394233 NHS T>C	X	17394233	17394233	T	C	NHS	c.353T>C	NM_001291867.1	NP_001278796.1:p.(Val118Ala)	NC_000023.10:g.17394233T>C	(Likely) benign	1 lab	8ef16d3796
6:152545688 SYNE1 G>A	6	152545688	152545688	G	A	SYNE1	c.21463C>T	NM_182961.3	NP_892006.3:p.(Arg7155Ter)	NC_000006.11:g.152545688G>A	(Likely) pathogenic	1 lab	8ef1e2e378
10:126086540 OAT T>C	10	126086540	126086540	T	C	OAT	c.1291A>G	NM_001322966.1	NP_001309895.1:p.(Ile431Val)	NC_000010.10:g.126086540T>C	VUS	1 lab	8ef285a46c
X:24024135 KLHL15 A>T	X	24024135	24024135	A	T	KLHL15	c.676T>A	NM_030624.2	NP_085127.2:p.(Leu226Met)	NC_000023.10:g.24024135A>T	VUS	1 lab	8ef5154df1
14:21467912 SLC39A2 C>T	14	21467912	21467912	C	T	SLC39A2	c.127C>T	NM_014579.3	NP_055394.2:p.(Leu43=)	NC_000014.8:g.21467912C>T	VUS	1 lab	8ef75266a8
1:1635577 CDK11A A>G	1	1635577	1635577	A	G	CDK11A	c.1695T>C	NM_024011.3	NP_076916.2:p.(Asp565=)	NC_000001.10:g.1635577A>G	(Likely) benign	1 lab	8ef9044b6b
19:55363663 KIR3DL2 G>A	19	55363663	55363663	G	A	KIR3DL2	c.281G>A	NM_006737.3	NP_006728.2:p.(Arg94Lys)	NC_000019.9:g.55363663G>A	(Likely) benign	1 lab	8ef95c5006
7:82457210 PCLO A>G	7	82457210	82457210	A	G	PCLO	c.14322T>C	NM_033026.5	NP_149015.2:p.(Tyr4774=)	NC_000007.13:g.82457210A>G	(Likely) benign	1 lab	8efac7fa7d
11:78380244 TENM4 G>A	11	78380244	78380244	G	A	TENM4	c.7146C>T	NM_001098816.2	NP_001092286.2:p.(Tyr2382=)	NC_000011.9:g.78380244G>A	(Likely) benign	1 lab	8efb1b05cf
3:132405204 NPHP3 C>T	3	132405204	132405204	C	T	NPHP3	c.3229G>A	NM_153240.4	NP_694972.3:p.(Ala1077Thr)	NC_000003.11:g.132405204C>T	VUS	1 lab	8efb26ad64
8:100711754 VPS13B G>A	8	100711754	100711754	G	A	VPS13B	c.6123G>A	NM_017890.4	NP_060360.3:p.(Ala2041=)	NC_000008.10:g.100711754G>A	(Likely) benign	1 lab	8efbf9f769
19:51298117 ACP4 C>T	19	51298117	51298117	C	T	ACP4	c.1061C>T	NM_033068.2	NP_149059.1:p.(Pro354Leu)	NC_000019.9:g.51298117C>T	VUS	1 lab	8efce0bb3b
3:100455503 TFG G>A	3	100455503	100455503	G	A	TFG	c.664G>A	NM_006070.6	NP_006061.2:p.(Val222Ile)	NC_000003.11:g.100455503G>A	(Likely) benign	1 lab	8f0062b2e7
1:237664108 RYR2 G>A	1	237664108	237664108	G	A	RYR2	c.2301G>A	NM_001035.3	NP_001026.2:p.(Ser767=)	NC_000001.10:g.237664108G>A	(Likely) benign	1 lab	fd16bd1daa
20:31021283 ASXL1 CAG>C	20	31021283	31021285	CAG	C	ASXL1	c.1283_1284del	NM_015338.6	NP_056153.2:p.(Gln428ArgfsTer9)	NC_000020.10:g.31021284_31021285del	(Likely) pathogenic	1 lab	8f00a81716
16:70292986 AARS1 G>A	16	70292986	70292986	G	A	AARS1	c.1889C>T	NM_001605.2	NP_001596.2:p.(Ala630Val)	NC_000016.9:g.70292986G>A	VUS	1 lab	8f01442a37
7:116778491 ST7 C>T	7	116778491	116778491	C	T	ST7	c.868C>T	NM_021908.2	NP_068708.1:p.(Arg290Ter)	NC_000007.13:g.116778491C>T	VUS	1 lab	8f017ef394
11:1265992 MUC5B C>T	11	1265992	1265992	C	T	MUC5B	c.7882C>T	NM_002458.2	NP_002449.2:p.(Arg2628Cys)	NC_000011.9:g.1265992C>T	(Likely) benign	1 lab	8f018e9acb
3:184046711 EIF4G1 C>T	3	184046711	184046711	C	T	EIF4G1	c.4097C>T	NM_182917.4	NP_886553.3:p.(Pro1366Leu)	NC_000003.11:g.184046711C>T	VUS	1 lab	8f048ca092
11:88924484 TYR C>T	11	88924484	88924484	C	T	TYR	c.934C>T	NM_000372.4	NP_000363.1:p.(Leu312Phe)	NC_000011.9:g.88924484C>T	VUS	1 lab	8f081015fc
15:29561606 NSMCE3 T>C	15	29561606	29561606	T	C	NSMCE3	c.304A>G	NM_138704.3	NP_619649.1:p.(Lys102Glu)	NC_000015.9:g.29561606T>C	VUS	1 lab	8f084a5946
2:112686911 MERTK G>A	2	112686911	112686911	G	A	MERTK	c.276G>A	NM_006343.2	NP_006334.2:p.(Pro92=)	NC_000002.11:g.112686911G>A	(Likely) benign	1 lab	8f087cee8b
6:111912641 TRAF3IP2 G>T	6	111912641	111912641	G	T	TRAF3IP2	c.649C>A	NM_147686.4	NP_679211.2:p.(Pro217Thr)	NC_000006.11:g.111912641G>T	(Likely) benign	1 lab	8f0895be7e
4:55139727 PDGFRA C>G	4	55139727	55139727	C	G	PDGFRA	c.1388C>G	NM_006206.4	NP_006197.1:p.(Thr463Ser)	NC_000004.11:g.55139727C>G	(Likely) benign	1 lab	8f08a64a7d
2:179600671 TTN T>C	2	179600671	179600671	T	C	TTN	c.14502A>G	NM_001267550.1	NP_001254479.1:p.(Ala4834=)	NC_000002.11:g.179600671T>C	(Likely) benign	1 lab	8f08b3c328
X:50339899 SHROOM4 C>T	X	50339899	50339899	C	T	SHROOM4	c.4278G>A	NM_020717.3	NP_065768.2:p.(Glu1426=)	NC_000023.10:g.50339899C>T	(Likely) benign	1 lab	8f094860b3
11:67759085 UNC93B1 C>G	11	67759085	67759085	C	G	UNC93B1	c.1726G>C	NM_030930.2	NP_112192.2:p.(Ala576Pro)	NC_000011.9:g.67759085C>G	(Likely) benign	1 lab	8f09d07c09
3:48488452 ATRIP C>T	3	48488452	48488452	C	T	ATRIP	c.203C>T	NM_130384.3	NP_569055.1:p.(Ser68Leu)	NC_000003.11:g.48488452C>T	VUS	1 lab	8f0b5e31f3
7:97800896 LMTK2 G>C	7	97800896	97800896	G	C	LMTK2	c.701G>C	NM_014916.3	NP_055731.2:p.(Arg234Pro)	NC_000007.13:g.97800896G>C	(Likely) benign	1 lab	8f0d45c8db
X:153582528 FLNA G>T	X	153582528	153582528	G	T	FLNA	c.5548C>A	NM_001110556.2	NP_001104026.1:p.(His1850Asn)	NC_000023.10:g.153582528G>T	VUS	1 lab	8f0d5b1e3f
8:48801085 PRKDC C>T	8	48801085	48801085	C	T	PRKDC	c.4407G>A	NM_001081640.1	NP_001075109.1:p.(Pro1469=)	NC_000008.10:g.48801085C>T	(Likely) benign	1 lab	8f0da24779
8:100147283 VPS13B G>A	8	100147283	100147283	G	A	VPS13B	c.1343G>A	NM_017890.4	NP_060360.3:p.(Gly448Glu)	NC_000008.10:g.100147283G>A	VUS	1 lab	8f0e62e6e9
1:176661369 PAPPA2 C>T	1	176661369	176661369	C	T	PAPPA2	c.2539C>T	NM_020318.2	NP_064714.2:p.(Pro847Ser)	NC_000001.10:g.176661369C>T	VUS	1 lab	8f0e80cdf5
17:29653033 NF1 C>CT	17	29653033	29653034	C	CT	NF1	c.4969dup	NM_000267.3	NP_000258.1:p.(Tyr1657LeufsTer4)	NC_000017.10:g.29653034dup	(Likely) pathogenic	1 lab	8f0f2016d2
7:33060884 NT5C3A C>CAT	7	33060884	33060886	C	CAT	NT5C3A	c.300_301dup	NM_001166118.2	NP_001159590.1:p.(Trp101TyrfsTer60)	NC_000007.13:g.33060885_33060886dup	(Likely) pathogenic	1 lab	8f0f8dd85b
X:101909580 GPRASP1 A>G	X	101909580	101909580	A	G	GPRASP1	c.739A>G	NM_001184727.1	NP_001171656.1:p.(Ile247Val)	NC_000023.10:g.101909580A>G	(Likely) benign	1 lab	8f0fa01124
1:203013845 PPFIA4 G>C	1	203013845	203013845	G	C	PPFIA4	c.598G>C	NM_001304331.1	NP_001291260.1:p.(Ala200Pro)	NC_000001.10:g.203013845G>C	(Likely) benign	1 lab	8f1159cba9
9:12709059 TYRP1 T>G	9	12709059	12709059	T	G	TYRP1	c.1491T>G	NM_000550.2	NP_000541.1:p.(Ala497=)	NC_000009.11:g.12709059T>G	(Likely) benign	1 lab	8f217af9d1
5:150945318 FAT2 C>T	5	150945318	150945318	C	T	FAT2	c.3175G>A	NM_001447.2	NP_001438.1:p.(Asp1059Asn)	NC_000005.9:g.150945318C>T	(Likely) benign	1 lab	8f12b2224d
9:1056569 DMRT2 G>A	9	1056569	1056569	G	A	DMRT2	c.982G>A	NM_181872.4	NP_870987.2:p.(Val328Met)	NC_000009.11:g.1056569G>A	VUS	1 lab	8f176be0d6
X:23723695 ACOT9 T>C	X	23723695	23723695	T	C	ACOT9	c.743A>G	NM_001330259.1	NP_001317188.1:p.(Asn248Ser)	NC_000023.10:g.23723695T>C	VUS	1 lab	8f179bb555
X:67426493 OPHN1 C>T	X	67426493	67426493	C	T	OPHN1	c.855G>A	NM_002547.2	NP_002538.1:p.(Val285=)	NC_000023.10:g.67426493C>T	VUS	1 lab	8f191db045
17:18067053 MYO15A C>A	17	18067053	18067053	C	A	MYO15A	c.9691-3C>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18067053C>A	(Likely) benign	1 lab	8f193c3337
2:36774244 CRIM1 T>C	2	36774244	36774244	T	C	CRIM1	c.2864T>C	NM_016441.3	NP_057525.1:p.(Ile955Thr)	NC_000002.11:g.36774244T>C	(Likely) benign	1 lab	8f19fbbcd2
12:22086799 ABCC9 C>T	12	22086799	22086799	C	T	ABCC9	c.201G>A	NM_020297.2	NP_064693.2:p.(Pro67=)	NC_000012.11:g.22086799C>T	VUS	1 lab	8f1b75624b
6:80223128 LCA5 C>T	6	80223128	80223128	C	T	LCA5	c.521G>A	NM_181714.3	NP_859065.2:p.(Arg174His)	NC_000006.11:g.80223128C>T	VUS	1 lab	8f1b9c0494
16:57789091 KATNB1 G>T	16	57789091	57789091	G	T	KATNB1	c.1357G>T	NM_005886.2	NP_005877.2:p.(Ala453Ser)	NC_000016.9:g.57789091G>T	VUS	1 lab	8f1bed1eaa
X:84601026 POF1B C>A	X	84601026	84601026	C	A	POF1B	c.563G>T	NM_024921.3	NP_079197.3:p.(Cys188Phe)	NC_000023.10:g.84601026C>A	(Likely) benign	1 lab	8f1e04e708
15:65936759 SLC24A1 T>C	15	65936759	65936759	T	C	SLC24A1	c.2054-6T>C	NM_004727.2	NP_004718.1:p.?	NC_000015.9:g.65936759T>C	VUS	1 lab	8f753073f3
12:6560489 CD27 G>A	12	6560489	6560489	G	A	CD27	c.714G>A	NM_001242.4	NP_001233.1:p.(Arg238=)	NC_000012.11:g.6560489G>A	(Likely) benign	1 lab	8f219cadaf
11:134018554 JAM3 T>C	11	134018554	134018554	T	C	JAM3	c.825T>C	NM_032801.4	NP_116190.3:p.(Asn275=)	NC_000011.9:g.134018554T>C	(Likely) benign	1 lab	8f2ca5d67e
14:76525692 IFT43 C>G	14	76525692	76525692	C	G	IFT43	c.271C>G	NM_001102564.1	NP_001096034.1:p.(Leu91Val)	NC_000014.8:g.76525692C>G	(Likely) benign	1 lab	8f22d32b06
11:82895810 PCF11 G>T	11	82895810	82895810	G	T	PCF11	c.4935G>T	NM_001346413.1	NP_001333342.1:p.(Leu1645Phe)	NC_000011.9:g.82895810G>T	VUS	1 lab	8f2386a4c5
10:134622112 CFAP46 G>A	10	134622112	134622112	G	A	CFAP46	c.7961C>T	NM_001200049.3	NP_001186978.2:p.(Ala2654Val)	NC_000010.10:g.134622112G>A	(Likely) benign	1 lab	8f24e7cb2a
16:2234798 CASKIN1 C>A	16	2234798	2234798	C	A	CASKIN1	c.1396G>T	NM_020764.3	NP_065815.1:p.(Glu466Ter)	NC_000016.9:g.2234798C>A	VUS	1 lab	8f25830b3e
10:115337844 HABP2 C>T	10	115337844	115337844	C	T	HABP2	c.508C>T	NM_004132.4	NP_004123.1:p.(Arg170Trp)	NC_000010.10:g.115337844C>T	VUS	1 lab	8f25ccf1a0
2:233656112 GIGYF2 G>A	2	233656112	233656112	G	A	GIGYF2	c.1301G>A	NM_001103147.1	NP_001096617.1:p.(Arg434Gln)	NC_000002.11:g.233656112G>A	(Likely) benign	1 lab	8f273d054d
X:50376892 SHROOM4 T>A	X	50376892	50376892	T	A	SHROOM4	c.2181A>T	NM_020717.3	NP_065768.2:p.(Arg727Ser)	NC_000023.10:g.50376892T>A	VUS	1 lab	8f28e10a01
X:152036201 NSDHL C>T	X	152036201	152036201	C	T	NSDHL	c.773C>T	NM_015922.3	NP_057006.1:p.(Ser258Leu)	NC_000023.10:g.152036201C>T	(Likely) benign	1 lab	8f28e19a9a
7:2953038 CARD11 C>T	7	2953038	2953038	C	T	CARD11	c.2902G>A	NM_001324281.1	NP_001311210.1:p.(Ala968Thr)	NC_000007.13:g.2953038C>T	(Likely) benign	1 lab	8f28f023c7
5:140166772 PCDHA1 A>G	5	140166772	140166772	A	G	PCDHA1	c.897A>G	NM_018900.3	NP_061723.1:p.(Ser299=)	NC_000005.9:g.140166772A>G	(Likely) benign	1 lab	8f291cb3c2
1:156561929 NAXE T>A	1	156561929	156561929	T	A	NAXE	c.219T>A	NM_144772.2	NP_658985.2:p.(Phe73Leu)	NC_000001.10:g.156561929T>A	(Likely) benign	1 lab	8f2a8e1ae6
1:155030567 ADAM15 C>T	1	155030567	155030567	C	T	ADAM15	c.1657C>T	NM_207197.2	NP_997080.1:p.(Arg553Trp)	NC_000001.10:g.155030567C>T	VUS	1 lab	8f2c8ec298
1:161137011 PPOX G>A	1	161137011	161137011	G	A	PPOX	c.209G>A	NM_001122764.3	NP_001116236.1:p.(Arg70Gln)	NC_000001.10:g.161137011G>A	(Likely) benign	1 lab	fd19505146
17:34862932 MYO19 C>T	17	34862932	34862932	C	T	MYO19	c.1514G>A	NM_001163735.1	NP_001157207.1:p.(Arg505His)	NC_000017.10:g.34862932C>T	VUS	1 lab	8f2e1f989f
3:193044812 ATP13A5 C>T	3	193044812	193044812	C	T	ATP13A5	c.1496G>A	NM_198505.4	NP_940907.2:p.(Trp499Ter)	NC_000003.11:g.193044812C>T	VUS	1 lab	fd1b11f9e9
16:2135313 TSC2 GAGA>G	16	2135313	2135318	GAGA	G	TSC2	c.4655_4657del	NM_000548.5	NP_000539.2:p.(Glu1552del)	NC_000016.9:g.2135316_2135318del	(Likely) pathogenic	1 lab	8f2ed44953
17:29508740 NF1 T>A	17	29508740	29508740	T	A	NF1	c.667T>A	NM_000267.3	NP_000258.1:p.(Trp223Arg)	NC_000017.10:g.29508740T>A	VUS	1 lab	8f311a20a8
16:70977833 HYDIN G>A	16	70977833	70977833	G	A	HYDIN	c.6551C>T	NM_001270974.2	NP_001257903.1:p.(Pro2184Leu)	NC_000016.9:g.70977833G>A	(Likely) benign	1 lab	8f3304dc10
2:152112060 RBM43 G>T	2	152112060	152112060	G	T	RBM43	c.201C>A	NM_198557.3	NP_940959.1:p.(Phe67Leu)	NC_000002.11:g.152112060G>T	VUS	1 lab	8f342fe6ee
17:44087796 MAPT C>T	17	44087796	44087796	C	T	MAPT	c.915+28C>T	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44087796C>T	(Likely) benign	1 lab	8f34f80637
10:102748921 TWNK C>G	10	102748921	102748921	C	G	TWNK	c.954C>G	NM_001163812.1	NP_001157284.1:p.(Ala318=)	NC_000010.10:g.102748921C>G	(Likely) benign	1 lab	8f35310412
1:89522791 GBP1 C>T	1	89522791	89522791	C	T	GBP1	c.901G>A	NM_002053.3	NP_002044.2:p.(Val301Ile)	NC_000001.10:g.89522791C>T	(Likely) benign	1 lab	8f35311792
16:2120429 TSC2 C>T	16	2120429	2120429	C	T	TSC2	c.1717-28C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120429C>T	(Likely) benign	1 lab	8f35a42a6b
16:21690274 OTOA C>G	16	21690274	21690274	C	G	OTOA	c.120+10C>G	NM_144672.4	NP_653273.3:p.?	NC_000016.9:g.21690274C>G	(Likely) benign	1 lab	8f35d6213a
16:57954351 CNGB1 T>C	16	57954351	57954351	T	C	CNGB1	c.1741A>G	NM_001297.4	NP_001288.3:p.(Lys581Glu)	NC_000016.9:g.57954351T>C	VUS	1 lab	8f36382cc4
16:2131680 TSC2 C>CT	16	2131680	2131681	C	CT	TSC2	c.3696dup	NM_000548.3	NP_000539.2:p.(Asn1233Ter)	NC_000016.9:g.2131681dup	(Likely) pathogenic	1 lab	8f3696471c
16:90108953 DRC4 T>A	16	90108953	90108953	T	A	DRC4	c.1038+10T>A	NM_001286205.1	NP_001273134.1:p.?	NC_000016.9:g.90108953T>A	(Likely) benign	1 lab	8f3724f964
19:1005049 GRIN3B G>A	19	1005049	1005049	G	A	GRIN3B	c.1549G>A	NM_138690.2	NP_619635.1:p.(Val517Ile)	NC_000019.9:g.1005049G>A	(Likely) benign	1 lab	8f37bd6a8c
11:108382360 EXPH5 C>T	11	108382360	108382360	C	T	EXPH5	c.3874G>A	NM_015065.3	NP_055880.2:p.(Ala1292Thr)	NC_000011.9:g.108382360C>T	VUS	1 lab	8f3849e6c1
15:31325130 TRPM1 T>C	15	31325130	31325130	T	C	TRPM1	c.2765A>G	NM_001252020.1	NP_001238949.1:p.(Glu922Gly)	NC_000015.9:g.31325130T>C	VUS	1 lab	8f389dd094
5:94834127 SKIC3 T>G	5	94834127	94834127	T	G	SKIC3	c.3510A>C	NM_014639.3	NP_055454.1:p.(Ala1170=)	NC_000005.9:g.94834127T>G	(Likely) benign	1 lab	8f3946478a
2:113888653 IL1RN T>C	2	113888653	113888653	T	C	IL1RN	c.135T>C	NM_001318914.1	NP_001305843.1:p.(His45=)	NC_000002.11:g.113888653T>C	(Likely) benign	1 lab	8f3ae6a89c
16:223101 HBA2 C>T	16	223101	223101	C	T	HBA2	c.96-23C>T	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223101C>T	(Likely) benign	1 lab	8f3af05a5e
1:65871776 DNAJC6 T>G	1	65871776	65871776	T	G	DNAJC6	c.2451T>G	NM_001256864.2	NP_001243793.1:p.(Pro817=)	NC_000001.10:g.65871776T>G	(Likely) benign	1 lab	8f3d195cf6
X:53585761 HUWE1 A>C	X	53585761	53585761	A	C	HUWE1	c.8015T>G	NM_031407.6	NP_113584.3:p.(Val2672Gly)	NC_000023.10:g.53585761A>C	VUS	1 lab	8f3d1bf2ad
9:79835291 VPS13A C>T	9	79835291	79835291	C	T	VPS13A	c.981C>T	NM_033305.2	NP_150648.2:p.(Ala327=)	NC_000009.11:g.79835291C>T	(Likely) benign	1 lab	8f3d4b8563
3:58097539 FLNB A>G	3	58097539	58097539	A	G	FLNB	c.2506A>G	NM_001164317.1	NP_001157789.1:p.(Arg836Gly)	NC_000003.11:g.58097539A>G	VUS	1 lab	8f4143be21
X:41598703 CASK A>G	X	41598703	41598703	A	G	CASK	c.363T>C	NM_003688.3	NP_003679.2:p.(Tyr121=)	NC_000023.10:g.41598703A>G	(Likely) benign	1 lab	8f41d53ad5
X:128886198 XPNPEP2 G>A	X	128886198	128886198	G	A	XPNPEP2	c.894G>A	NM_003399.5	NP_003390.4:p.(Met298Ile)	NC_000023.10:g.128886198G>A	(Likely) benign	1 lab	8f438daa8d
10:73375310 CDH23 C>G	10	73375310	73375310	C	G	CDH23	c.882C>G	NM_022124.5	NP_071407.4:p.(Thr294=)	NC_000010.10:g.73375310C>G	(Likely) benign	1 lab	8f4ba29e6e
X:46322703 KRABD4 G>A	X	46322703	46322703	G	A	KRABD4	c.213G>A	NM_001129899.1	NP_001123371.1:p.(Gly71=)	NC_000023.10:g.46322703G>A	(Likely) benign	1 lab	8f43c4f565
14:64165341 SGPP1 G>A	14	64165341	64165341	G	A	SGPP1	c.720C>T	NM_030791.4	NP_110418.1:p.(Cys240=)	NC_000014.8:g.64165341G>A	(Likely) benign	1 lab	8f4566355e
2:202489023 TMEM237 C>T	2	202489023	202489023	C	T	TMEM237	c.1158G>A	NM_152388.3	NP_689601.2:p.(Val386=)	NC_000002.11:g.202489023C>T	(Likely) benign	1 lab	8f46e4d4fb
X:21900620 MBTPS2 A>G	X	21900620	21900620	A	G	MBTPS2	c.1407A>G	NM_015884.3	NP_056968.1:p.(Gln469=)	NC_000023.10:g.21900620A>G	(Likely) benign	1 lab	8f47a085f7
X:152771516 BGN C>T	X	152771516	152771516	C	T	BGN	c.547C>T	NM_001711.5	NP_001702.1:p.(Arg183Trp)	NC_000023.10:g.152771516C>T	VUS	1 lab	8f47b6d615
19:56544050 NLRP5 C>A	19	56544050	56544050	C	A	NLRP5	c.2350C>A	NM_153447.4	NP_703148.4:p.(Arg784=)	NC_000019.9:g.56544050C>A	(Likely) benign	1 lab	8f490c3714
2:149793789 KIF5C G>A	2	149793789	149793789	G	A	KIF5C	c.292-9G>A	NM_004522.3	NP_004513.1:p.?	NC_000002.11:g.149793789G>A	(Likely) benign	1 lab	8f4979b528
X:66942713 AR C>T	X	66942713	66942713	C	T	AR	c.2494C>T	NM_000044.4	NP_000035.2:p.(Arg832Ter)	NC_000023.10:g.66942713C>T	(Likely) pathogenic	1 lab	8f49a3473b
21:34903081 GART T>C	21	34903081	34903081	T	C	GART	c.707A>G	NM_001136005.1	NP_001129477.1:p.(Tyr236Cys)	NC_000021.8:g.34903081T>C	VUS	1 lab	8f4b11fecf
16:2103431 TSC2 T>C	16	2103431	2103431	T	C	TSC2	c.314T>C	NM_000548.3	NP_000539.2:p.(Leu105Pro)	NC_000016.9:g.2103431T>C	VUS	1 lab	8fb6b3cd4a
20:62324313 RTEL1 C>T	20	62324313	62324313	C	T	RTEL1	c.2808C>T	NM_001283009.1	NP_001269938.1:p.(Gly936=)	NC_000020.10:g.62324313C>T	(Likely) benign	1 lab	8f4bfb8a7f
10:13336432 PHYH G>A	10	13336432	13336432	G	A	PHYH	c.110C>T	NM_001323080.1	NP_001310009.1:p.(Pro37Leu)	NC_000010.10:g.13336432G>A	VUS	1 lab	8f4cbdee97
11:6652999 DCHS1 T>C	11	6652999	6652999	T	C	DCHS1				NC_000011.9:g.6652999T>C	VUS	1 lab	8f4ffed588
17:57760556 CLTC C>CT	17	57760556	57760557	C	CT	CLTC	c.3987dup	NM_001288653.1	NP_001275582.1:p.(Lys1330Ter)	NC_000017.10:g.57760557dup	(Likely) pathogenic	1 lab	8f51c9e086
17:600663 VPS53 G>A	17	600663	600663	G	A	VPS53	c.280C>T	NM_001128159.2	NP_001121631.1:p.(Arg94Trp)	NC_000017.10:g.600663G>A	VUS	1 lab	8f5269b938
1:114445358 AP4B1 T>C	1	114445358	114445358	T	C	AP4B1	c.240A>G	NM_006594.4	NP_006585.2:p.(Pro80=)	NC_000001.10:g.114445358T>C	(Likely) benign	1 lab	8f555ed59a
11:67816749 TCIRG1 C>G	11	67816749	67816749	C	G	TCIRG1	c.981C>G	NM_001351059.1	NP_001337988.1:p.(Leu327=)	NC_000011.9:g.67816749C>G	(Likely) benign	1 lab	8f565e75c8
3:128614267 ACAD9 A>G	3	128614267	128614267	A	G	ACAD9	c.453+8A>G	NM_014049.4	NP_054768.2:p.?	NC_000003.11:g.128614267A>G	(Likely) benign	1 lab	8f56706ca7
X:85211300 CHM C>T	X	85211300	85211300	C	T	CHM	c.1024G>A	NM_000390.2	NP_000381.1:p.(Ala342Thr)	NC_000023.10:g.85211300C>T	VUS	1 lab	8f570f24bd
X:73744306 SLC16A2 CTGG>C	X	73744306	73744309	CTGG	C	SLC16A2	c.689_691del	NM_006517.5	NP_006508.2:p.(Leu230_Ala231delinsPro)	NC_000023.10:g.73744307_73744309del	(Likely) pathogenic	1 lab	8f57131cb3
17:61574355 ACE A>C	17	61574355	61574355	A	C	ACE	c.3691+9A>C	NM_000789.3	NP_000780.1:p.?	NC_000017.10:g.61574355A>C	(Likely) benign	1 lab	8f57ac2aa0
6:56358857 DST T>G	6	56358857	56358857	T	G	DST	c.13988A>C	NM_001144769.5	NP_001138241.1:p.(Asn4663Thr)	NC_000006.11:g.56358857T>G	VUS	1 lab	fd2b9387f6
5:89990215 ADGRV1 A>G	5	89990215	89990215	A	G	ADGRV1	c.7642A>G	NM_032119.4	NP_115495.3:p.(Met2548Val)	NC_000005.9:g.89990215A>G	(Likely) benign	1 lab	8f5ab4cd0f
2:1544617 TPO G>A	2	1544617	1544617	G	A	TPO	c.2748+122G>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1544617G>A	(Likely) benign	1 lab	fd3161a2b6
14:105707699 BRF1 C>G	14	105707699	105707699	C	G	BRF1	c.597G>C	NM_001519.4	NP_001510.2:p.(Lys199Asn)	NC_000014.8:g.105707699C>G	VUS	1 lab	8f5d82cae6
8:48826512 PRKDC G>A	8	48826512	48826512	G	A	PRKDC	c.2730C>T	NM_006904.6	NP_008835.5:p.(Phe910=)	NC_000008.10:g.48826512G>A	(Likely) benign	1 lab	8f5ef52818
X:123019788 XIAP T>C	X	123019788	123019788	T	C	XIAP	c.276T>C	NM_001167.3	NP_001158.2:p.(Phe92=)	NC_000023.10:g.123019788T>C	(Likely) benign	1 lab	8f5f937df2
5:140062793 HARS1 G>GT	5	140062793	140062794	G	GT	HARS1	c.191dup	NM_002109.6	NP_002100.2:p.(Asp64GlufsTer3)	NC_000005.9:g.140062794dup	(Likely) pathogenic	1 lab	8f6018955e
16:2135251 TSC2 G>A	16	2135251	2135251	G	A	TSC2	c.4590G>A	NM_000548.3	NP_000539.2:p.(Ser1530=)	NC_000016.9:g.2135251G>A	VUS	1 lab	8f6088a5e2
3:128616510 ACAD9 C>T	3	128616510	128616510	C	T	ACAD9	c.590C>T	NM_014049.4	NP_054768.2:p.(Thr197Ile)	NC_000003.11:g.128616510C>T	VUS	1 lab	8f608caf26
6:167343079 RNASET2 A>G	6	167343079	167343079	A	G	RNASET2				NC_000006.11:g.167343079A>G	(Likely) benign	1 lab	8f60e11128
1:27106323 ARID1A C>T	1	27106323	27106323	C	T	ARID1A	c.5934C>T	NM_006015.4	NP_006006.3:p.(Ala1978=)	NC_000001.10:g.27106323C>T	(Likely) benign	1 lab	8f64944a3a
X:148564434 IDS T>C	X	148564434	148564434	T	C	IDS	c.1496A>G	NM_000202.7	NP_000193.1:p.(Tyr499Cys)	NC_000023.10:g.148564434T>C	VUS	1 lab	8f64dabd80
15:44941213 SPG11 T>C	15	44941213	44941213	T	C	SPG11	c.1457-4A>G	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44941213T>C	(Likely) benign	1 lab	8f65814bd8
11:26681951 ANO3 G>A	11	26681951	26681951	G	A	ANO3	c.3089G>A	NM_001313726.1	NP_001300655.1:p.(Arg1030Gln)	NC_000011.9:g.26681951G>A	VUS	1 lab	8f663000e3
14:100374013 EML1 C>T	14	100374013	100374013	C	T	EML1	c.1104C>T	NM_001008707.1	NP_001008707.1:p.(Asn368=)	NC_000014.8:g.100374013C>T	(Likely) benign	1 lab	8f663cb8dc
13:32972555 BRCA2 G>A	13	32972555	32972555	G	A	BRCA2	c.9905G>A	NM_000059.3	NP_000050.2:p.(Arg3302Lys)	NC_000013.10:g.32972555G>A	VUS	1 lab	8f66eb370a
15:48434271 SLC24A5 T>G	15	48434271	48434271	T	G	SLC24A5	c.1226T>G	NM_205850.2	NP_995322.1:p.(Phe409Cys)	NC_000015.9:g.48434271T>G	VUS	1 lab	8f67505015
3:185997656 DGKG A>G	3	185997656	185997656	A	G	DGKG	c.776T>C	NM_001346.3	NP_001337.2:p.(Leu259Pro)	NC_000003.11:g.185997656A>G	VUS	1 lab	8f675f9375
13:110818757 COL4A1 TATAG>T	13	110818757	110818764	TATAG	T	COL4A1	c.3950-111_3950-108del	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110818761_110818764del	(Likely) benign	1 lab	8f67668802
4:126337763 FAT4 C>T	4	126337763	126337763	C	T	FAT4	c.7004C>T	NM_001291303.1	NP_001278232.1:p.(Thr2335Ile)	NC_000004.11:g.126337763C>T	VUS	1 lab	8f68115649
1:175348815 TNR G>A	1	175348815	175348815	G	A	TNR	c.1836C>T	NM_003285.2	NP_003276.3:p.(Leu612=)	NC_000001.10:g.175348815G>A	(Likely) benign	1 lab	8f68ec257e
19:44065167 XRCC1 C>T	19	44065167	44065167	C	T	XRCC1	c.150G>A	NM_006297.2	NP_006288.2:p.(Glu50=)	NC_000019.9:g.44065167C>T	(Likely) benign	1 lab	8f69fb9d9d
6:152570360 SYNE1 T>C	6	152570360	152570360	T	C	SYNE1	c.19508A>G	NM_182961.3	NP_892006.3:p.(Asn6503Ser)	NC_000006.11:g.152570360T>C	(Likely) benign	1 lab	8f69fcc2a4
1:103548409 COL11A1 C>G	1	103548409	103548409	C	G	COL11A1	c.226G>C	NM_080629.2	NP_542196.2:p.(Val76Leu)	NC_000001.10:g.103548409C>G	VUS	1 lab	8f6d7937f7
1:225565074 DNAH14 G>A	1	225565074	225565074	G	A	DNAH14	c.12652G>A	NM_001367479.1	NP_001354408.1:p.(Glu4218Lys)	NC_000001.10:g.225565074G>A	VUS	1 lab	8f6dc0a0eb
11:1026094 MUC6 G>A	11	1026094	1026094	G	A	MUC6	c.2594C>T	NM_005961.2	NP_005952.2:p.(Pro865Leu)	NC_000011.9:g.1026094G>A	(Likely) benign	1 lab	8f6dd4834c
1:183191286 LAMC2 C>T	1	183191286	183191286	C	T	LAMC2	c.703C>T	NM_005562.2	NP_005553.2:p.(Arg235Cys)	NC_000001.10:g.183191286C>T	VUS	1 lab	8f6e5d615e
17:74133990 FOXJ1 C>CG	17	74133990	74133995	C	CG	FOXJ1	c.709dup	NM_001454.4	NP_001445.2:p.(Arg237ProfsTer37)	NC_000017.10:g.74133995dup	(Likely) pathogenic	1 lab	fd4018fac1
2:27565869 GTF3C2 T>C	2	27565869	27565869	T	C	GTF3C2	c.426A>G	NM_001318909.1	NP_001305838.1:p.(Gln142=)	NC_000002.11:g.27565869T>C	(Likely) benign	1 lab	8f717485a0
X:70597546 TAF1 C>G	X	70597546	70597546	C	G	TAF1	c.868C>G	NM_004606.4	NP_004597.2:p.(Leu290Val)	NC_000023.10:g.70597546C>G	(Likely) benign	1 lab	8f724138b5
6:87970428 ZNF292 C>T	6	87970428	87970428	C	T	ZNF292	c.6661C>T	NM_001351444.1	NP_001338373.1:p.(Arg2221Cys)	NC_000006.11:g.87970428C>T	VUS	1 lab	8f72e59e00
9:91616356 S1PR3 C>T	9	91616356	91616356	C	T	S1PR3	c.241C>T	NM_005226.4	NP_005217.2:p.(Leu81=)	NC_000009.11:g.91616356C>T	(Likely) benign	1 lab	8f731d3eb0
3:43732510 ABHD5 A>G	3	43732510	43732510	A	G	ABHD5	c.26A>G	NM_016006.5	NP_057090.2:p.(Asp9Gly)	NC_000003.11:g.43732510A>G	(Likely) benign	1 lab	8f73de8de2
X:15582235 ACE2 T>C	X	15582235	15582235	T	C	ACE2	c.2221A>G	NM_021804.2	NP_068576.1:p.(Ile741Val)	NC_000023.10:g.15582235T>C	(Likely) benign	1 lab	8f74651ac8
X:50341412 SHROOM4 C>T	X	50341412	50341412	C	T	SHROOM4	c.4066G>A	NM_020717.3	NP_065768.2:p.(Val1356Ile)	NC_000023.10:g.50341412C>T	(Likely) benign	1 lab	8f75efbdbe
12:52867066 KRT6C A>G	12	52867066	52867066	A	G	KRT6C	c.456T>C	NM_173086.5	NP_775109.2:p.(Ile152=)	NC_000012.11:g.52867066A>G	(Likely) benign	1 lab	fd420baf7b
9:107547738 ABCA1 G>T	9	107547738	107547738	G	T	ABCA1	c.6584C>A	NM_005502.3	NP_005493.2:p.(Ser2195Tyr)	NC_000009.11:g.107547738G>T	VUS	1 lab	8f772708aa
6:109415215 SESN1 C>G	6	109415215	109415215	C	G	SESN1	c.62G>C	NM_014454.3	NP_055269.1:p.(Arg21Thr)	NC_000006.11:g.109415215C>G	VUS	1 lab	fd4d0193c5
X:57935719 ZXDA T>C	X	57935719	57935719	T	C	ZXDA	c.1136A>G	NM_007156.4	NP_009087.1:p.(Gln379Arg)	NC_000023.10:g.57935719T>C	VUS	1 lab	8f790bfe3a
16:2133695 TSC2 G>C	16	2133695	2133695	G	C	TSC2	c.3884-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2133695G>C	(Likely) pathogenic	1 lab	8fb7277069
14:51259467 NIN G>A	14	51259467	51259467	G	A	NIN	c.398C>T	NM_020921.3	NP_065972.3:p.(Ala133Val)	NC_000014.8:g.51259467G>A	VUS	1 lab	8f7a235fdc
2:170019082 LRP2 T>C	2	170019082	170019082	T	C	LRP2	c.11787A>G	NM_004525.3	NP_004516.2:p.(Thr3929=)	NC_000002.11:g.170019082T>C	(Likely) benign	1 lab	8f7c5cdb65
16:4385108 GLIS2 C>T	16	4385108	4385108	C	T	GLIS2	c.570C>T	NM_001318918.1	NP_001305847.1:p.(Asn190=)	NC_000016.9:g.4385108C>T	(Likely) benign	1 lab	8f7f5d487b
16:57935330 CNGB1 G>A	16	57935330	57935330	G	A	CNGB1	c.2902C>T	NM_001297.4	NP_001288.3:p.(Arg968Trp)	NC_000016.9:g.57935330G>A	VUS	1 lab	8f7f93c3d3
12:111923594 ATXN2 G>A	12	111923594	111923594	G	A	ATXN2	c.2860C>T	NM_002973.3	NP_002964.3:p.(Pro954Ser)	NC_000012.11:g.111923594G>A	VUS	1 lab	8f80617c31
X:153689529 PLXNA3 G>A	X	153689529	153689529	G	A	PLXNA3	c.685G>A	NM_017514.4	NP_059984.3:p.(Gly229Ser)	NC_000023.10:g.153689529G>A	(Likely) benign	1 lab	8f81572eea
2:182521612 CERKL GCCT>G	2	182521612	182521617	GCCT	G	CERKL	c.119_121del	NM_201548.5	NP_963842.1:p.(Glu40del)	NC_000002.11:g.182521615_182521617del	VUS	1 lab	8f84170334
X:5811029 NLGN4X G>A	X	5811029	5811029	G	A	NLGN4X	c.2280C>T	NM_001282145.1	NP_001269074.1:p.(Tyr760=)	NC_000023.10:g.5811029G>A	(Likely) benign	1 lab	8f84718524
21:46326976 ITGB2 C>T	21	46326976	46326976	C	T	ITGB2	c.182G>A	NM_000211.3	NP_000202.2:p.(Arg61His)	NC_000021.8:g.46326976C>T	VUS	1 lab	8f848877ba
1:7797392 CAMTA1 C>T	1	7797392	7797392	C	T	CAMTA1	c.3420C>T	NM_015215.3	NP_056030.1:p.(Pro1140=)	NC_000001.10:g.7797392C>T	(Likely) benign	1 lab	8f8498aa8f
X:100744555 ARMCX4 A>G	X	100744555	100744555	A	G	ARMCX4	c.979A>G	NM_001256155.2	NP_001243084.2:p.(Lys327Glu)	NC_000023.10:g.100744555A>G	(Likely) benign	1 lab	8f89a91fcc
9:135802686 TSC1 C>CA	9	135802686	135802687	C	CA	TSC1	c.111dup	NM_000368.4	NP_000359.1:p.(Gly38TrpfsTer32)	NC_000009.11:g.135802687dup	(Likely) pathogenic	1 lab	8f8cef0627
17:29663826 NF1 T>TA	17	29663826	29663827	T	TA	NF1	c.6259dup	NM_000267.3	NP_000258.1:p.(Thr2087AsnfsTer12)	NC_000017.10:g.29663827dup	(Likely) pathogenic	1 lab	8f8d54d3f7
17:29559087 NF1 T>C	17	29559087	29559087	T	C	NF1	c.3198-4T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559087T>C	(Likely) benign	1 lab	8f8f399574
16:70697606 MTSS2 C>A	16	70697606	70697606	C	A	MTSS2	c.2218G>T	NM_138383.2	NP_612392.1:p.(Asp740Tyr)	NC_000016.9:g.70697606C>A	VUS	1 lab	8f915e6c99
4:100205714 ADH1A G>A	4	100205714	100205714	G	A	ADH1A	c.409C>T	NM_000667.4	NP_000658.1:p.(Pro137Ser)	NC_000004.11:g.100205714G>A	(Likely) benign	1 lab	8f933d5902
8:145741455 RECQL4 T>C	8	145741455	145741455	T	C	RECQL4	c.1048A>G	NM_004260.3	NP_004251.3:p.(Arg350Gly)	NC_000008.10:g.145741455T>C	(Likely) benign	1 lab	8f95514e62
8:28974511 KIF13B G>A	8	28974511	28974511	G	A	KIF13B	c.3674C>T	NM_015254.4	NP_056069.2:p.(Ala1225Val)	NC_000008.10:g.28974511G>A	VUS	1 lab	8f95af5124
17:6733715 TEKT1 G>A	17	6733715	6733715	G	A	TEKT1	c.-17-3C>T	NM_053285.2	NP_444515.1:p.?	NC_000017.10:g.6733715G>A	(Likely) benign	1 lab	8f964554ac
17:29490396 NF1 T>C	17	29490396	29490396	T	C	NF1	c.479+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29490396T>C	(Likely) pathogenic	1 lab	8f96a81e6c
7:128588335 IRF5 G>A	7	128588335	128588335	G	A	IRF5	c.1204G>A	NM_001098627.3	NP_001092097.2:p.(Glu402Lys)	NC_000007.13:g.128588335G>A	VUS	1 lab	8f9755c7a9
10:55582676 PCDH15 T>C	10	55582676	55582676	T	C	PCDH15	c.4831A>G	NM_001142763.1	NP_001136235.1:p.(Arg1611Gly)	NC_000010.10:g.55582676T>C	(Likely) benign	1 lab	8f9b360257
12:103288576 PAH T>G	12	103288576	103288576	T	G	PAH	c.289A>C	NM_000277.1	NP_000268.1:p.(Ile97Leu)	NC_000012.11:g.103288576T>G	(Likely) benign	1 lab	8f9bc209e7
6:152557441 SYNE1 A>G	6	152557441	152557441	A	G	SYNE1	c.20200-3T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152557441A>G	(Likely) benign	1 lab	8f9d461a3f
9:14801878 FREM1 C>G	9	14801878	14801878	C	G	FREM1	c.3472-6G>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14801878C>G	(Likely) benign	1 lab	8f9f86ac26
18:56348411 MALT1 C>G	18	56348411	56348411	C	G	MALT1	c.219C>G	NM_006785.4	NP_006776.1:p.(Asp73Glu)	NC_000018.9:g.56348411C>G	VUS	1 lab	8fa065e125
20:44599897 ZNF335 G>GGCCTCT	20	44599897	44599907	G	GGCCTCT	ZNF335	c.147_152dup	NM_022095.4	NP_071378.1:p.(Glu50_Ala51dup)	NC_000020.10:g.44599902_44599907dup	VUS	1 lab	fd4d666eea
17:18034131 MYO15A A>AGTGTGTGT	17	18034131	18034185	A	AGTGTGTGT	MYO15A	c.4038+54_4038+61dup	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18034178_18034185dup	(Likely) benign	1 lab	8fa1064f4d
4:70152571 UGT2B28 T>C	4	70152571	70152571	T	C	UGT2B28	c.972T>C	NM_053039.1	NP_444267.1:p.(Ile324=)	NC_000004.11:g.70152571T>C	(Likely) benign	1 lab	8fa1c0032b
14:105411002 AHNAK2 C>T	14	105411002	105411002	C	T	AHNAK2	c.10786G>A	NM_138420.3	NP_612429.2:p.(Asp3596Asn)	NC_000014.8:g.105411002C>T	(Likely) benign	1 lab	8fa30889ca
X:39931926 BCOR G>A	X	39931926	39931926	G	A	BCOR	c.2673C>T	NM_001123385.1	NP_001116857.1:p.(Asn891=)	NC_000023.10:g.39931926G>A	(Likely) benign	1 lab	8fa4a06993
12:7343876 PEX5 C>T	12	7343876	7343876	C	T	PEX5	c.238C>T	NM_001131025.1	NP_001124497.1:p.(Gln80Ter)	NC_000012.11:g.7343876C>T	(Likely) pathogenic	1 lab	8fa4e7db9d
8:145107915 OPLAH G>A	8	145107915	145107915	G	A	OPLAH	c.2989C>T	NM_017570.4	NP_060040.1:p.(Arg997Cys)	NC_000008.10:g.145107915G>A	(Likely) benign	1 lab	8fa5bde9f8
17:2568695 PAFAH1B1 C>A	17	2568695	2568695	C	A	PAFAH1B1	c.62C>A	NM_000430.3	NP_000421.1:p.(Ser21Ter)	NC_000017.10:g.2568695C>A	(Likely) pathogenic	1 lab	8fa64a7bae
19:7293813 INSR G>A	19	7293813	7293813	G	A	INSR	c.90C>T	NM_000208.3	NP_000199.2:p.(Tyr30=)	NC_000019.9:g.7293813G>A	(Likely) benign	1 lab	8fa7cfc91e
X:104440261 IL1RAPL2 A>G	X	104440261	104440261	A	G	IL1RAPL2	c.187A>G	NM_017416.1	NP_059112.1:p.(Asn63Asp)	NC_000023.10:g.104440261A>G	VUS	1 lab	8fa895a290
8:22415694 SORBS3 G>A	8	22415694	22415694	G	A	SORBS3	c.467G>A	NM_005775.4	NP_005766.3:p.(Arg156Gln)	NC_000008.10:g.22415694G>A	VUS	1 lab	8facf2b4c4
9:71842725 TJP2 A>G	9	71842725	71842725	A	G	TJP2	c.1255A>G	NM_004817.4	NP_004808.2:p.(Arg419Gly)	NC_000009.11:g.71842725A>G	(Likely) benign	1 lab	8facfc8367
X:153594482 FLNA G>A	X	153594482	153594482	G	A	FLNA	c.1339C>T	NM_001110556.2	NP_001104026.1:p.(Gln447Ter)	NC_000023.10:g.153594482G>A	(Likely) pathogenic	1 lab	8fad50e2d4
19:620393 POLRMT G>A	19	620393	620393	G	A	POLRMT	c.2735C>T	NM_005035.3	NP_005026.3:p.(Ala912Val)	NC_000019.9:g.620393G>A	(Likely) benign	1 lab	8fae0cb098
19:11596563 ZNF653 C>T	19	11596563	11596563	C	T	ZNF653	c.1478G>A	NM_138783.4	NP_620138.2:p.(Arg493Gln)	NC_000019.9:g.11596563C>T	VUS	1 lab	8fb18bae37
16:1642572 IFT140 C>T	16	1642572	1642572	C	T	IFT140	c.387G>A	NM_014714.3	NP_055529.2:p.(Leu129=)	NC_000016.9:g.1642572C>T	(Likely) benign	1 lab	8fb544edaa
3:58117658 FLNB C>T	3	58117658	58117658	C	T	FLNB	c.4395C>T	NM_001164317.1	NP_001157789.1:p.(Asp1465=)	NC_000003.11:g.58117658C>T	(Likely) benign	1 lab	8fb74dad5f
2:179448571 TTN G>A	2	179448571	179448571	G	A	TTN	c.65338C>T	NM_001267550.1	NP_001254479.1:p.(Arg21780Cys)	NC_000002.11:g.179448571G>A	VUS	1 lab	8fb75ae6eb
12:49580573 TUBA1A A>G	12	49580573	49580573	A	G	TUBA1A	c.47T>C	NM_001270399.2	NP_001257328.1:p.(Ile16Thr)	NC_000012.11:g.49580573A>G	(Likely) pathogenic	1 lab	fd52e75009
X:23411421 PTCHD1 C>T	X	23411421	23411421	C	T	PTCHD1	c.1786C>T	NM_173495.2	NP_775766.2:p.(Arg596Trp)	NC_000023.10:g.23411421C>T	VUS	1 lab	8fbac463b1
6:24714548 C6orf62 G>A	6	24714548	24714548	G	A	C6orf62	c.427C>T	NM_030939.5	NP_112201.1:p.(Gln143Ter)	NC_000006.11:g.24714548G>A	VUS	1 lab	8fbc97651e
6:157528910 ARID1B G>A	6	157528910	157528910	G	A	ARID1B	c.6635G>A	NM_020732.3	NP_065783.3:p.(Arg2212His)	NC_000006.11:g.157528910G>A	VUS	1 lab	8fbd13a260
19:36398481 TYROBP A>T	19	36398481	36398481	A	T	TYROBP	c.96T>A	NM_003332.3	NP_003323.1:p.(Asp32Glu)	NC_000019.9:g.36398481A>T	(Likely) benign	1 lab	8fbde11f1a
X:44922935 KDM6A C>T	X	44922935	44922935	C	T	KDM6A	c.1952C>T	NM_001291415.1	NP_001278344.1:p.(Thr651Ile)	NC_000023.10:g.44922935C>T	VUS	1 lab	8fbeef957d
4:15517584 CC2D2A C>T	4	15517584	15517584	C	T	CC2D2A	c.974C>T	NM_001080522.2	NP_001073991.2:p.(Thr325Ile)	NC_000004.11:g.15517584C>T	VUS	1 lab	8fc08bc2c3
22:19026557 DGCR2 G>A	22	19026557	19026557	G	A	DGCR2	c.1474C>T	NM_005137.2	NP_005128.1:p.(Arg492Cys)	NC_000022.10:g.19026557G>A	(Likely) benign	1 lab	8fc0dfd1b2
X:152014887 NSDHL G>A	X	152014887	152014887	G	A	NSDHL	c.19G>A	NM_015922.3	NP_057006.1:p.(Glu7Lys)	NC_000023.10:g.152014887G>A	(Likely) benign	1 lab	8fc4e1598e
5:141325108 PCDH12 G>A	5	141325108	141325108	G	A	PCDH12	c.3393C>T	NM_016580.3	NP_057664.1:p.(Ala1131=)	NC_000005.9:g.141325108G>A	(Likely) benign	1 lab	8fc511945b
17:18025140 MYO15A C>A	17	18025140	18025140	C	A	MYO15A	c.3026C>A	NM_016239.3	NP_057323.3:p.(Pro1009His)	NC_000017.10:g.18025140C>A	(Likely) benign	1 lab	8fc685abdb
22:24143206 SMARCB1 A>G	22	24143206	24143206	A	G	SMARCB1	c.438A>G	NM_003073.3	NP_003064.2:p.(Pro146=)	NC_000022.10:g.24143206A>G	(Likely) benign	1 lab	8fc7a91405
14:105242966 AKT1 T>C	14	105242966	105242966	T	C	AKT1	c.287+30A>G	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105242966T>C	(Likely) benign	1 lab	8fc9047996
9:140051385 GRIN1 G>A	9	140051385	140051385	G	A	GRIN1	c.864G>A	NM_007327.3	NP_015566.1:p.(Val288=)	NC_000009.11:g.140051385G>A	(Likely) benign	1 lab	8fc92365eb
5:13737490 DNAH5 C>T	5	13737490	13737490	C	T	DNAH5	c.11326G>A	NM_001369.2	NP_001360.1:p.(Val3776Ile)	NC_000005.9:g.13737490C>T	VUS	1 lab	8fcc86f4c8
12:40697831 LRRK2 A>G	12	40697831	40697831	A	G	LRRK2	c.3672A>G	NM_198578.3	NP_940980.3:p.(Glu1224=)	NC_000012.11:g.40697831A>G	(Likely) benign	1 lab	8fccd88f3d
1:183099657 LAMC1 G>A	1	183099657	183099657	G	A	LAMC1	c.3459G>A	NM_002293.3	NP_002284.3:p.(Glu1153=)	NC_000001.10:g.183099657G>A	(Likely) benign	1 lab	8fcd3e31f0
11:6570148 DNHD1 C>T	11	6570148	6570148	C	T	DNHD1	c.7372C>T	NM_144666.2	NP_653267.2:p.(His2458Tyr)	NC_000011.9:g.6570148C>T	VUS	1 lab	8fcde86043
9:140358601 PNPLA7 G>A	9	140358601	140358601	G	A	PNPLA7	c.3203C>T	NM_001098537.3	NP_001092007.2:p.(Ser1068Leu)	NC_000009.11:g.140358601G>A	VUS	1 lab	8fd017bca4
18:3452188 TGIF1 C>T	18	3452188	3452188	C	T	TGIF1	c.211C>T	NM_170695.3	NP_733796.2:p.(Pro71Ser)	NC_000018.9:g.3452188C>T	(Likely) benign	1 lab	8fd4308971
13:39424355 FREM2 T>A	13	39424355	39424355	T	A	FREM2	c.6560T>A	NM_207361.5	NP_997244.4:p.(Ile2187Asn)	NC_000013.10:g.39424355T>A	VUS	1 lab	8fd5c9d3c8
X:100744139 ARMCX4 C>A	X	100744139	100744139	C	A	ARMCX4	c.563C>A	NM_001256155.2	NP_001243084.2:p.(Thr188Asn)	NC_000023.10:g.100744139C>A	VUS	1 lab	8fd6590f4c
X:27765068 DCAF8L2 T>G	X	27765068	27765068	T	G	DCAF8L2	c.56T>G	NM_001353448.1	NP_001340377.1:p.(Leu19Arg)	NC_000023.10:g.27765068T>G	VUS	1 lab	8fd750dc5c
2:179400516 TTN C>T	2	179400516	179400516	C	T	TTN	c.100826G>A	NM_001267550.1	NP_001254479.1:p.(Arg33609Gln)	NC_000002.11:g.179400516C>T	VUS	1 lab	8fd845dbb0
18:67759930 RTTN C>T	18	67759930	67759930	C	T	RTTN	c.4014G>A	NM_173630.4	NP_775901.3:p.(Met1338Ile)	NC_000018.9:g.67759930C>T	(Likely) benign	1 lab	fd58d7ac7b
2:211441089 CPS1 G>A	2	211441089	211441089	G	A	CPS1	c.256G>A	NM_001875.5	NP_001866.2:p.(Asp86Asn)	NC_000002.11:g.211441089G>A	(Likely) pathogenic	1 lab	fd5977968d
16:30745827 SRCAP G>A	16	30745827	30745827	G	A	SRCAP	c.6620G>A	NM_006662.2	NP_006653.2:p.(Arg2207Gln)	NC_000016.9:g.30745827G>A	VUS	1 lab	8fda7b4bb8
17:29653047 NF1 G>GT	17	29653047	29653048	G	GT	NF1	c.4983dup	NM_000267.3	NP_000258.1:p.(Asn1662Ter)	NC_000017.10:g.29653048dup	(Likely) pathogenic	1 lab	8fdac97bae
3:15686014 BTD T>A	3	15686014	15686014	T	A	BTD	c.651T>A	NM_000060.4	NP_000051.1:p.(Phe217Leu)	NC_000003.11:g.15686014T>A	VUS	1 lab	8fde86e359
6:49425764 MMUT C>T	6	49425764	49425764	C	T	MMUT	c.393G>A	NM_000255.3	NP_000246.2:p.(Gln131=)	NC_000006.11:g.49425764C>T	(Likely) benign	1 lab	8fdf2306e1
2:64083552 UGP2 A>G	2	64083552	64083552	A	G	UGP2	c.132A>G	NM_006759.3	NP_006750.3:p.(Ser44=)	NC_000002.11:g.64083552A>G	(Likely) benign	1 lab	8fdfafa1fb
8:141461333 TRAPPC9 C>T	8	141461333	141461333	C	T	TRAPPC9	c.434G>A	NM_031466.6	NP_113654.4:p.(Arg145Gln)	NC_000008.10:g.141461333C>T	(Likely) benign	1 lab	8fe023741a
9:117822210 TNC C>T	9	117822210	117822210	C	T	TNC	c.4105G>A	NM_002160.3	NP_002151.2:p.(Ala1369Thr)	NC_000009.11:g.117822210C>T	(Likely) benign	1 lab	8fe08f4407
19:50730175 MYH14 A>G	19	50730175	50730175	A	G	MYH14	c.826A>G	NM_001145809.1	NP_001139281.1:p.(Ile276Val)	NC_000019.9:g.50730175A>G	(Likely) benign	1 lab	8fe0968221
2:73675560 ALMS1 T>C	2	73675560	73675560	T	C	ALMS1	c.1909T>C	NM_015120.4	NP_055935.4:p.(Leu637=)	NC_000002.11:g.73675560T>C	(Likely) benign	1 lab	8fe4136bb4
16:57787886 KATNB1 T>G	16	57787886	57787886	T	G	KATNB1	c.1207T>G	NM_005886.2	NP_005877.2:p.(Phe403Val)	NC_000016.9:g.57787886T>G	VUS	1 lab	8fe41c2d32
9:32467764 RIGI G>A	9	32467764	32467764	G	A	RIGI	c.2181C>T	NM_014314.3	NP_055129.2:p.(Thr727=)	NC_000009.11:g.32467764G>A	(Likely) benign	1 lab	8fe4d5a9ee
X:154003551 DKC1 G>A	X	154003551	154003551	G	A	DKC1	c.*564+3G>A	NM_001288747.1	NP_001275676.1:p.?	NC_000023.10:g.154003551G>A	(Likely) benign	1 lab	8fe578444e
17:70119118 SOX9 G>A	17	70119118	70119118	G	A	SOX9	c.685+5G>A	NM_000346.3	NP_000337.1:p.?	NC_000017.10:g.70119118G>A	VUS	1 lab	8fe635899c
20:39990448 EMILIN3 G>T	20	39990448	39990448	G	T	EMILIN3	c.1761C>A	NM_052846.2	NP_443078.1:p.(Leu587=)	NC_000020.10:g.39990448G>T	(Likely) benign	1 lab	8fe858c551
13:103524637 ERCC5 T>C	13	103524637	103524637	T	C	ERCC5	c.2768T>C	NM_000123.3	NP_000114.2:p.(Leu923Pro)	NC_000013.10:g.103524637T>C	(Likely) benign	1 lab	8feaa7d060
9:120474676 TLR4 C>A	9	120474676	120474676	C	A	TLR4	c.150C>A	NM_003266.3	NP_003257.1:p.(Ile50=)	NC_000009.11:g.120474676C>A	(Likely) benign	1 lab	8feac19101
14:73727878 PAPLN C>T	14	73727878	73727878	C	T	PAPLN	c.2040C>T	NM_173462.3	NP_775733.3:p.(His680=)	NC_000014.8:g.73727878C>T	(Likely) benign	1 lab	8fece23d50
14:104026639 BAG5 T>A	14	104026639	104026639	T	A	BAG5	c.986A>T	NM_001015049.2	NP_001015049.1:p.(Glu329Val)	NC_000014.8:g.104026639T>A	VUS	1 lab	8fed336428
6:31930323 SKIC2 C>T	6	31930323	31930323	C	T	SKIC2	c.1172C>T	NM_006929.4	NP_008860.4:p.(Pro391Leu)	NC_000006.11:g.31930323C>T	VUS	1 lab	8fed889ae1
X:48921455 CCDC120 C>T	X	48921455	48921455	C	T	CCDC120				NC_000023.10:g.48921455C>T	(Likely) benign	1 lab	8fedf6d466
3:133698325 SLCO2A1 C>T	3	133698325	133698325	C	T	SLCO2A1	c.234G>A	NM_005630.2	NP_005621.2:p.(Glu78=)	NC_000003.11:g.133698325C>T	VUS	1 lab	8fee73ebd7
17:17136097 FLCN C>G	17	17136097	17136097	C	G	FLCN	c.-114+5G>C	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17136097C>G	VUS	1 lab	8fee79c46f
12:15777287 EPS8 A>G	12	15777287	15777287	A	G	EPS8	c.2099T>C	NM_004447.5	NP_004438.3:p.(Ile700Thr)	NC_000012.11:g.15777287A>G	VUS	1 lab	8ff0a9cf34
2:54159812 PSME4 C>T	2	54159812	54159812	C	T	PSME4	c.1043G>A	NM_014614.3	NP_055429.2:p.(Arg348His)	NC_000002.11:g.54159812C>T	VUS	1 lab	8ff1e82910
6:116943975 RSPH4A G>A	6	116943975	116943975	G	A	RSPH4A	c.731G>A	NM_001010892.2	NP_001010892.1:p.(Arg244His)	NC_000006.11:g.116943975G>A	VUS	1 lab	8ff27d118d
5:34954037 DNAJC21 TA>T	5	34954037	34954040	TA	T	DNAJC21	c.1368del	NM_001012339.3	NP_001012339.2:p.(Lys456AsnfsTer10)	NC_000005.9:g.34954040del	(Likely) pathogenic	1 lab	8ff5760a8c
19:4818333 TICAM1 G>A	19	4818333	4818333	G	A	TICAM1	c.57C>T	NM_182919.3	NP_891549.1:p.(Gly19=)	NC_000019.9:g.4818333G>A	VUS	1 lab	8ff7edd003
3:132222154 DNAJC13 A>G	3	132222154	132222154	A	G	DNAJC13	c.4813A>G	NM_015268.4	NP_056083.3:p.(Ile1605Val)	NC_000003.11:g.132222154A>G	(Likely) benign	1 lab	8ff9782bba
12:10280023 CLEC7A T>G	12	10280023	10280023	T	G	CLEC7A	c.221A>C	NM_197954.2	NP_922945.1:p.(Glu74Ala)	NC_000012.11:g.10280023T>G	(Likely) benign	1 lab	8ffa1089e2
1:89477611 GBP3 G>A	1	89477611	89477611	G	A	GBP3	c.566C>T	NM_001319180.1	NP_001306109.1:p.(Ser189Leu)	NC_000001.10:g.89477611G>A	VUS	1 lab	8ffa6c6779
11:118347591 KMT2A T>C	11	118347591	118347591	T	C	KMT2A	c.3228T>C	NM_001197104.1	NP_001184033.1:p.(Ala1076=)	NC_000011.9:g.118347591T>C	(Likely) benign	1 lab	8ffac2e09e
20:8630024 PLCB1 A>G	20	8630024	8630024	A	G	PLCB1	c.522A>G	NM_182734.2	NP_877398.1:p.(Ile174Met)	NC_000020.10:g.8630024A>G	VUS	1 lab	8ffb3b517c
X:100748081 ARMCX4 C>T	X	100748081	100748081	C	T	ARMCX4	c.4505C>T	NM_001256155.2	NP_001243084.2:p.(Thr1502Ile)	NC_000023.10:g.100748081C>T	VUS	1 lab	8fff6dfb42
18:6978268 LAMA1 T>C	18	6978268	6978268	T	C	LAMA1	c.6117A>G	NM_005559.3	NP_005550.2:p.(Thr2039=)	NC_000018.9:g.6978268T>C	(Likely) benign	1 lab	8fffccf031
17:4907294 KIF1C A>C	17	4907294	4907294	A	C	KIF1C	c.866A>C	NM_006612.5	NP_006603.2:p.(Gln289Pro)	NC_000017.10:g.4907294A>C	VUS	1 lab	900114aa97
19:55696947 PTPRH G>A	19	55696947	55696947	G	A	PTPRH	c.2985C>T	NM_002842.5	NP_002833.4:p.(Thr995=)	NC_000019.9:g.55696947G>A	(Likely) benign	1 lab	9001d874d8
6:100062617 PRDM13 C>T	6	100062617	100062617	C	T	PRDM13	c.2106C>T	NM_021620.3	NP_067633.2:p.(Gly702=)	NC_000006.11:g.100062617C>T	VUS	1 lab	9002045782
5:89979981 ADGRV1 T>C	5	89979981	89979981	T	C	ADGRV1	c.6243T>C	NM_032119.4	NP_115495.3:p.(Ser2081=)	NC_000005.9:g.89979981T>C	(Likely) benign	1 lab	9002413810
9:98735344 ERCC6L2 C>T	9	98735344	98735344	C	T	ERCC6L2	c.3344C>T	NM_020207.4	NP_064592.2:p.(Ser1115Leu)	NC_000009.11:g.98735344C>T	VUS	1 lab	9004473668
3:9489490 SETD5 C>T	3	9489490	9489490	C	T	SETD5	c.1609C>T	NM_001292043.1	NP_001278972.1:p.(Gln537Ter)	NC_000003.11:g.9489490C>T	(Likely) pathogenic	1 lab	90058dbe66
13:32893368 BRCA2 G>A	13	32893368	32893368	G	A	BRCA2	c.222G>A	NM_000059.3	NP_000050.2:p.(Leu74=)	NC_000013.10:g.32893368G>A	(Likely) benign	1 lab	9008c2d1ec
20:57484792 GNAS C>T	20	57484792	57484792	C	T	GNAS	c.2701C>T	NM_080425.3	NP_536350.2:p.(Arg901Trp)	NC_000020.10:g.57484792C>T	(Likely) pathogenic	1 lab	900a518cc3
9:2729690 KCNV2 G>GA	9	2729690	2729692	G	GA	KCNV2	c.1603dup	NM_133497.3	NP_598004.1:p.(Ser535LysfsTer21)	NC_000009.11:g.2729692dup	(Likely) pathogenic	1 lab	900c5fb930
1:225605799 LBR T>C	1	225605799	225605799	T	C	LBR	c.724A>G	NM_194442.2	NP_919424.1:p.(Asn242Asp)	NC_000001.10:g.225605799T>C	VUS	1 lab	900cf0f376
9:139391623 NOTCH1 G>A	9	139391623	139391623	G	A	NOTCH1	c.6568C>T	NM_017617.5	NP_060087.3:p.(Leu2190=)	NC_000009.11:g.139391623G>A	(Likely) benign	1 lab	900e127f7e
3:62518688 CADPS C>T	3	62518688	62518688	C	T	CADPS	c.2149G>A	NM_003716.4	NP_003707.2:p.(Ala717Thr)	NC_000003.11:g.62518688C>T	VUS	1 lab	fd70663884
15:89758479 RLBP1 G>A	15	89758479	89758479	G	A	RLBP1	c.347-10C>T	NM_000326.4	NP_000317.1:p.?	NC_000015.9:g.89758479G>A	(Likely) benign	1 lab	9011dae6da
11:6653253 DCHS1 T>A	11	6653253	6653253	T	A	DCHS1				NC_000011.9:g.6653253T>A	(Likely) benign	1 lab	9012b40c25
11:118376788 KMT2A G>A	11	118376788	118376788	G	A	KMT2A	c.10181G>A	NM_001197104.2	NP_001184033.1:p.(Gly3394Glu)	NC_000011.9:g.118376788G>A	VUS	1 lab	fd75c785e0
3:134277136 CEP63 G>A	3	134277136	134277136	G	A	CEP63	c.1620G>A	NM_025180.4	NP_079456.2:p.(Arg540=)	NC_000003.11:g.134277136G>A	(Likely) benign	1 lab	90153ece5d
20:3870278 PANK2 C>A	20	3870278	3870278	C	A	PANK2	c.531C>A	NM_153638.2	NP_705902.2:p.(Ala177=)	NC_000020.10:g.3870278C>A	(Likely) benign	1 lab	9016312bd9
2:179659712 TTN A>C	2	179659712	179659712	A	C	TTN	c.1182T>G	NM_001267550.1	NP_001254479.1:p.(Ala394=)	NC_000002.11:g.179659712A>C	(Likely) benign	1 lab	9016429ecf
18:8786039 MTCL1 G>A	18	8786039	8786039	G	A	MTCL1	c.1837G>A	NM_015210.3	NP_056025.2:p.(Gly613Arg)	NC_000018.9:g.8786039G>A	VUS	1 lab	9017a58bf0
16:88781621 CTU2 C>G	16	88781621	88781621	C	G	CTU2	c.1723C>G	NM_001318507.1	NP_001305436.1:p.(Leu575Val)	NC_000016.9:g.88781621C>G	VUS	1 lab	9018f7744b
4:126336210 FAT4 T>C	4	126336210	126336210	T	C	FAT4	c.6092T>C	NM_001291303.1	NP_001278232.1:p.(Phe2031Ser)	NC_000004.11:g.126336210T>C	VUS	1 lab	901a2be4c2
11:47371426 MYBPC3 T>A	11	47371426	47371426	T	A	MYBPC3	c.553A>T	NM_000256.3	NP_000247.2:p.(Lys185Ter)	NC_000011.9:g.47371426T>A	(Likely) pathogenic	1 lab	901af014bd
3:53157739 RFT1 C>T	3	53157739	53157739	C	T	RFT1	c.266+1G>A	NM_052859.3	NP_443091.1:p.?	NC_000003.11:g.53157739C>T	(Likely) pathogenic	1 lab	901b66bff4
18:6986242 LAMA1 T>C	18	6986242	6986242	T	C	LAMA1	c.5273A>G	NM_005559.3	NP_005550.2:p.(Asn1758Ser)	NC_000018.9:g.6986242T>C	VUS	1 lab	901b924c0b
17:29556239 NF1 C>T	17	29556239	29556239	C	T	NF1	c.2606C>T	NM_000267.3	NP_000258.1:p.(Pro869Leu)	NC_000017.10:g.29556239C>T	VUS	1 lab	901d0fc8b1
14:92471826 TRIP11 C>T	14	92471826	92471826	C	T	TRIP11	c.2494G>A	NM_004239.4	NP_004230.2:p.(Asp832Asn)	NC_000014.8:g.92471826C>T	(Likely) benign	1 lab	901d83fe01
10:73466668 CDH23 G>A	10	73466668	73466668	G	A	CDH23	c.2968G>A	NM_022124.5	NP_071407.4:p.(Asp990Asn)	NC_000010.10:g.73466668G>A	(Likely) pathogenic	1 lab	901deccc94
16:70852284 HYDIN G>A	16	70852284	70852284	G	A	HYDIN	c.14619C>T	NM_001270974.2	NP_001257903.1:p.(Ile4873=)	NC_000016.9:g.70852284G>A	(Likely) benign	1 lab	901e0dbb6a
5:35700675 SPEF2 C>A	5	35700675	35700675	C	A	SPEF2	c.2219C>A	NM_024867.4	NP_079143.3:p.(Ala740Asp)	NC_000005.9:g.35700675C>A	VUS	1 lab	90213de5a6
2:179537393 TTN A>G	2	179537393	179537393	A	G	TTN	c.34824T>C	NM_001267550.1	NP_001254479.1:p.(Pro11608=)	NC_000002.11:g.179537393A>G	(Likely) benign	1 lab	9022cd3ea1
11:124857231 CCDC15 CTGAGCCAGAAGGCCAGGCCAT>C	11	124857231	124857268	CTGAGCCAGAAGGCCAGGCCAT	C	CCDC15	c.1126_1146del	NM_025004.3	NP_079280.2:p.(Ala376_Gln382del)	NC_000011.9:g.124857248_124857268del	VUS	1 lab	9023e3e8cd
X:47087956 CDK16 C>T	X	47087956	47087956	C	T	CDK16	c.1394-10C>T	NM_033018.3	NP_148978.2:p.?	NC_000023.10:g.47087956C>T	(Likely) benign	1 lab	90243bfdbe
15:83335618 AP3B2 C>A	15	83335618	83335618	C	A	AP3B2	c.1733G>T	NM_001278512.1	NP_001265441.1:p.(Arg578Leu)	NC_000015.9:g.83335618C>A	VUS	1 lab	90249a96c6
16:2134484 TSC2 GGGACCCT>G	16	2134484	2134495	GGGACCCT	G	TSC2	c.4266_4272del	NM_000548.5	NP_000539.2:p.(Leu1423GlyfsTer51)	NC_000016.9:g.2134489_2134495del	(Likely) pathogenic	1 lab	9026411598
3:150659480 CLRN1 G>A	3	150659480	150659480	G	A	CLRN1	c.494C>T	NM_001256819.1	NP_001243748.1:p.(Pro165Leu)	NC_000003.11:g.150659480G>A	VUS	1 lab	9026bd149f
1:220357437 RAB3GAP2 CAT>C	1	220357437	220357440	CAT	C	RAB3GAP2	c.1937_1938del	NM_012414.4	NP_036546.2:p.(Tyr646Ter)	NC_000001.10:g.220357439_220357440del	(Likely) pathogenic	1 lab	902987ece8
7:4823415 AP5Z1 C>G	7	4823415	4823415	C	G	AP5Z1	c.607C>G	NM_014855.3	NP_055670.1:p.(Pro203Ala)	NC_000007.13:g.4823415C>G	VUS	1 lab	bb8260b9eb
1:94543300 ABCA4 C>T	1	94543300	94543300	C	T	ABCA4	c.1500G>A	NM_000350.2	NP_000341.2:p.(Arg500=)	NC_000001.10:g.94543300C>T	(Likely) benign	1 lab	902bbc5e7b
3:70014384 MITF G>A	3	70014384	70014384	G	A	MITF	c.1548G>A	NM_198159.2	NP_937802.1:p.(Thr516=)	NC_000003.11:g.70014384G>A	(Likely) benign	1 lab	902c183f0d
20:47570300 ARFGEF2 C>G	20	47570300	47570300	C	G	ARFGEF2	c.811C>G	NM_006420.2	NP_006411.2:p.(Pro271Ala)	NC_000020.10:g.47570300C>G	(Likely) benign	1 lab	902c9aadec
X:8555989 ANOS1 C>T	X	8555989	8555989	C	T	ANOS1	c.572G>A	NM_000216.3	NP_000207.2:p.(Arg191Gln)	NC_000023.10:g.8555989C>T	(Likely) benign	1 lab	902d8af732
1:158648329 SPTA1 T>G	1	158648329	158648329	T	G	SPTA1	c.679-5A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158648329T>G	(Likely) benign	1 lab	902d9b3bad
12:4763993 NDUFA9 C>T	12	4763993	4763993	C	T	NDUFA9	c.223C>T	NM_005002.4	NP_004993.1:p.(Arg75Cys)	NC_000012.11:g.4763993C>T	VUS	1 lab	902ee86267
2:29296053 PCARE C>T	2	29296053	29296053	C	T	PCARE	c.1075G>A	NM_001029883.2	NP_001025054.1:p.(Val359Met)	NC_000002.11:g.29296053C>T	VUS	1 lab	902f2dc1d4
14:95670444 CLMN G>A	14	95670444	95670444	G	A	CLMN	c.1242C>T	NM_024734.4	NP_079010.2:p.(Asn414=)	NC_000014.8:g.95670444G>A	(Likely) benign	1 lab	902f8e3c24
X:138698512 MCF2 G>A	X	138698512	138698512	G	A	MCF2	c.1300C>T	NM_001171876.1	NP_001165347.1:p.(Leu434=)	NC_000023.10:g.138698512G>A	(Likely) benign	1 lab	90309716f6
9:139916819 ABCA2 C>T	9	139916819	139916819	C	T	ABCA2	c.641G>A	NM_212533.2	NP_997698.1:p.(Arg214His)	NC_000009.11:g.139916819C>T	VUS	1 lab	90312c4155
X:151935746 MAGEA3 C>T	X	151935746	151935746	C	T	MAGEA3	c.421G>A	NM_005362.3	NP_005353.1:p.(Gly141Arg)	NC_000023.10:g.151935746C>T	(Likely) benign	1 lab	903282bd23
7:151873706 KMT2C C>T	7	151873706	151873706	C	T	KMT2C	c.8832G>A	NM_170606.2	NP_733751.2:p.(Pro2944=)	NC_000007.13:g.151873706C>T	(Likely) benign	1 lab	9033d0e782
17:8794081 PIK3R5 C>T	17	8794081	8794081	C	T	PIK3R5	c.631G>A	NM_001142633.2	NP_001136105.1:p.(Val211Ile)	NC_000017.10:g.8794081C>T	(Likely) benign	1 lab	9034900131
10:56077173 PCDH15 C>T	10	56077173	56077173	C	T	PCDH15	c.734G>A	NM_001354429.1	NP_001341358.1:p.(Arg245Gln)	NC_000010.10:g.56077173C>T	(Likely) benign	1 lab	90352dfa3d
5:82850808 VCAN A>G	5	82850808	82850808	A	G	VCAN	c.9686A>G	NM_004385.4	NP_004376.2:p.(Asn3229Ser)	NC_000005.9:g.82850808A>G	VUS	1 lab	90359081fc
2:233194691 DIS3L2 C>T	2	233194691	233194691	C	T	DIS3L2	c.1908C>T	NM_152383.4	NP_689596.4:p.(Ser636=)	NC_000002.11:g.233194691C>T	(Likely) benign	1 lab	903706f400
15:25616506 UBE3A T>C	15	25616506	25616506	T	C	UBE3A	c.824A>G	NM_000462.5	NP_000453.2:p.(Asn275Ser)	NC_000015.9:g.25616506T>C	VUS	1 lab	903738f4dd
21:34799310 IFNGR2 C>T	21	34799310	34799310	C	T	IFNGR2	c.589C>T	NM_001329128.1	NP_001316057.1:p.(His197Tyr)	NC_000021.8:g.34799310C>T	(Likely) benign	1 lab	9037ae41c1
12:122064726 ORAI1 A>AGCCGCCGGAGCCGCC	12	122064726	122064746	A	AGCCGCCGGAGCCGCC	ORAI1	c.85_99dup	NM_032790.3	NP_116179.2:p.(Arg29_Arg33dup)	NC_000012.11:g.122064732_122064746dup	VUS	1 lab	9037d730f3
6:138612938 ARFGEF3 C>A	6	138612938	138612938	C	A	ARFGEF3	c.3116C>A	NM_020340.5	NP_065073.3:p.(Thr1039Asn)	NC_000006.11:g.138612938C>A	(Likely) benign	1 lab	903e8bf6e5
5:39331916 C9 C>T	5	39331916	39331916	C	T	C9	c.477G>A	NM_001737.3	NP_001728.1:p.(Gly159=)	NC_000005.9:g.39331916C>T	(Likely) benign	1 lab	903eb180ec
X:53573431 HUWE1 G>A	X	53573431	53573431	G	A	HUWE1	c.10881C>T	NM_031407.6	NP_113584.3:p.(Ala3627=)	NC_000023.10:g.53573431G>A	(Likely) benign	1 lab	90405596c2
5:90136718 ADGRV1 C>G	5	90136718	90136718	C	G	ADGRV1	c.16935C>G	NM_032119.4	NP_115495.3:p.(Asn5645Lys)	NC_000005.9:g.90136718C>G	VUS	1 lab	904154b388
21:34931988 SON G>A	21	34931988	34931988	G	A	SON	c.6564G>A	NM_138927.2	NP_620305.2:p.(Ala2188=)	NC_000021.8:g.34931988G>A	(Likely) benign	1 lab	90421107f8
19:11687377 ACP5 AGGC>A	19	11687377	11687382	AGGC	A	ACP5	c.413_415del	NM_001611.5	NP_001602.1:p.(Arg138del)	NC_000019.9:g.11687380_11687382del	VUS	1 lab	904529c254
X:153688695 PLXNA3 C>T	X	153688695	153688695	C	T	PLXNA3	c.172C>T	NM_017514.4	NP_059984.3:p.(Pro58Ser)	NC_000023.10:g.153688695C>T	(Likely) benign	1 lab	90479f3fc1
1:207646304 CR2 G>C	1	207646304	207646304	G	C	CR2	c.1758G>C	NM_001006658.2	NP_001006659.1:p.(Trp586Cys)	NC_000001.10:g.207646304G>C	VUS	1 lab	904834a41c
2:69271911 ANTXR1 C>T	2	69271911	69271911	C	T	ANTXR1	c.262C>T	NM_032208.3	NP_115584.1:p.(Arg88Ter)	NC_000002.11:g.69271911C>T	(Likely) pathogenic	1 lab	fd7c4ca89f
X:65253352 VSIG4 C>T	X	65253352	65253352	C	T	VSIG4	c.376G>A	NM_001184830.1	NP_001171759.1:p.(Val126Met)	NC_000023.10:g.65253352C>T	VUS	1 lab	904da4a632
17:29684370 NF1 CA>C	17	29684370	29684373	CA	C	NF1	c.7956del	NM_001042492.3	NP_001035957.1:p.(Val2653SerfsTer26)	NC_000017.10:g.29684373del	(Likely) pathogenic	1 lab	904ed6b25b
10:97402895 ALDH18A1 G>C	10	97402895	97402895	G	C	ALDH18A1	c.157C>G	NM_001323413.1	NP_001310342.1:p.(Leu53Val)	NC_000010.10:g.97402895G>C	(Likely) benign	1 lab	904eea8c34
12:57627779 SHMT2 G>A	12	57627779	57627779	G	A	SHMT2	c.1217-7G>A	NM_001166357.1	NP_001159829.1:p.?	NC_000012.11:g.57627779G>A	(Likely) benign	1 lab	9050086d26
9:94495455 ROR2 C>A	9	94495455	94495455	C	A	ROR2	c.886G>T	NM_004560.4	NP_004551.2:p.(Asp296Tyr)	NC_000009.11:g.94495455C>A	VUS	1 lab	fd7cda8ff3
15:40917526 KNL1 G>C	15	40917526	40917526	G	C	KNL1	c.5142G>C	NM_170589.4	NP_733468.3:p.(Pro1714=)	NC_000015.9:g.40917526G>C	(Likely) benign	1 lab	905373a925
6:112453957 LAMA4 C>T	6	112453957	112453957	C	T	LAMA4	c.3832G>A	NM_001105206.3	NP_001098676.2:p.(Gly1278Arg)	NC_000006.11:g.112453957C>T	VUS	1 lab	fd819d6916
15:73029859 BBS4 TC>T	15	73029859	73029861	TC	T	BBS4	c.1493del	NM_033028.5	NP_149017.2:p.(Pro498LeufsTer19)	NC_000015.9:g.73029861del	(Likely) pathogenic	1 lab	905553ba91
6:76624658 MYO6 C>T	6	76624658	76624658	C	T	MYO6	c.3787C>T	NM_004999.3	NP_004990.3:p.(Gln1263Ter)	NC_000006.11:g.76624658C>T	VUS	1 lab	9056cff26c
1:160109526 ATP1A2 G>T	1	160109526	160109526	G	T	ATP1A2				NC_000001.10:g.160109526G>T	(Likely) benign	1 lab	905a4e91b2
17:48069151 DLX3 A>G	17	48069151	48069151	A	G	DLX3	c.594T>C	NM_005220.2	NP_005211.1:p.(Ser198=)	NC_000017.10:g.48069151A>G	(Likely) benign	1 lab	905dd62321
17:32965161 TMEM132E T>C	17	32965161	32965161	T	C	TMEM132E	c.3135T>C	NM_001304438.1	NP_001291367.1:p.(Gly1045=)	NC_000017.10:g.32965161T>C	(Likely) benign	1 lab	905e3e1e4e
21:38852950 DYRK1A C>CA	21	38852950	38852956	C	CA	DYRK1A	c.344dup	NM_001396.5	NP_001387.2:p.(Lys116GlufsTer13)	NC_000021.8:g.38852956dup	(Likely) pathogenic	1 lab	fd849a6295
5:149758828 TCOF1 G>A	5	149758828	149758828	G	A	TCOF1	c.2515G>A	NM_001135243.1	NP_001128715.1:p.(Val839Ile)	NC_000005.9:g.149758828G>A	(Likely) benign	1 lab	905f0f5f3a
2:85981816 ATOH8 C>G	2	85981816	85981816	C	G	ATOH8	c.504C>G	NM_032827.7	NP_116216.2:p.(Pro168=)	NC_000002.11:g.85981816C>G	(Likely) benign	1 lab	9060e70f42
3:97367132 EPHA6 C>A	3	97367132	97367132	C	A	EPHA6	c.1155C>A	NM_001278300.1	NP_001265229.1:p.(Asp385Glu)	NC_000003.11:g.97367132C>A	(Likely) benign	1 lab	9061f91f2a
3:38519456 ACVR2B C>T	3	38519456	38519456	C	T	ACVR2B	c.365C>T	NM_001106.3	NP_001097.2:p.(Pro122Leu)	NC_000003.11:g.38519456C>T	VUS	1 lab	9063681258
X:152960208 SLC6A8 C>T	X	152960208	152960208	C	T	SLC6A8	c.1631C>T	NM_005629.3	NP_005620.1:p.(Pro544Leu)	NC_000023.10:g.152960208C>T	(Likely) pathogenic	1 lab	9066c172e9
3:129290378 PLXND1 C>T	3	129290378	129290378	C	T	PLXND1	c.3310G>A	NM_015103.2	NP_055918.2:p.(Val1104Ile)	NC_000003.11:g.129290378C>T	VUS	1 lab	9068abbd9f
X:153053358 IDH3G C>T	X	153053358	153053358	C	T	IDH3G	c.460G>A	NM_174869.2	NP_777358.1:p.(Val154Met)	NC_000023.10:g.153053358C>T	VUS	1 lab	90693f2002
10:105659931 STN1 GCTT>G	10	105659931	105659937	GCTT	G	STN1	c.343_345del	NM_024928.5	NP_079204.2:p.(Lys115del)	NC_000010.10:g.105659935_105659937del	VUS	1 lab	906a63aa50
16:2335553 ABCA3 C>T	16	2335553	2335553	C	T	ABCA3	c.3373G>A	NM_001089.2	NP_001080.2:p.(Val1125Met)	NC_000016.9:g.2335553C>T	(Likely) benign	1 lab	906a9e28c0
X:38129060 RPGR G>A	X	38129060	38129060	G	A	RPGR	c.2267C>T	NM_000328.2	NP_000319.1:p.(Ser756Leu)	NC_000023.10:g.38129060G>A	(Likely) benign	1 lab	906aca4865
9:20907172 FOCAD G>A	9	20907172	20907172	G	A	FOCAD	c.2649G>A	NM_017794.4	NP_060264.4:p.(Trp883Ter)	NC_000009.11:g.20907172G>A	VUS	1 lab	906b645f9c
9:139412205 NOTCH1 G>T	9	139412205	139412205	G	T	NOTCH1	c.1440C>A	NM_017617.5	NP_060087.3:p.(Pro480=)	NC_000009.11:g.139412205G>T	(Likely) benign	1 lab	906ba82696
2:56149566 EFEMP1 C>T	2	56149566	56149566	C	T	EFEMP1	c.10G>A	NM_001039348.2	NP_001034437.1:p.(Ala4Thr)	NC_000002.11:g.56149566C>T	VUS	1 lab	9076cb5fa6
16:2129148 TSC2 G>A	16	2129148	2129148	G	A	TSC2	c.3082G>A	NM_000548.3	NP_000539.2:p.(Asp1028Asn)	NC_000016.9:g.2129148G>A	(Likely) pathogenic	1 lab	906f2b710c
17:34857009 MYO19 G>T	17	34857009	34857009	G	T	MYO19	c.2147C>A	NM_001163735.1	NP_001157207.1:p.(Pro716Gln)	NC_000017.10:g.34857009G>T	VUS	1 lab	906fdb328e
13:100953862 PCCA A>G	13	100953862	100953862	A	G	PCCA	c.1209+5A>G	NM_000282.3	NP_000273.2:p.?	NC_000013.10:g.100953862A>G	(Likely) benign	1 lab	9070ca2ae2
X:153593733 FLNA G>A	X	153593733	153593733	G	A	FLNA	c.1551C>T	NM_001110556.2	NP_001104026.1:p.(Val517=)	NC_000023.10:g.153593733G>A	(Likely) benign	1 lab	9071997bde
1:152281317 FLG G>A	1	152281317	152281317	G	A	FLG	c.6045C>T	NM_002016.1	NP_002007.1:p.(Asp2015=)	NC_000001.10:g.152281317G>A	(Likely) benign	1 lab	90720913bd
2:241702148 KIF1A G>GCTC	2	241702148	241702163	G	GCTC	KIF1A	c.2101_2103dup	NM_001244008.1	NP_001230937.1:p.(Glu701dup)	NC_000002.11:g.241702161_241702163dup	(Likely) benign	1 lab	9073192b37
2:99013379 CNGA3 C>T	2	99013379	99013379	C	T	CNGA3	c.1746C>T	NM_001298.2	NP_001289.1:p.(Asp582=)	NC_000002.11:g.99013379C>T	(Likely) benign	1 lab	9073dd1bbb
15:42154805 SPTBN5 G>A	15	42154805	42154805	G	A	SPTBN5	c.7317C>T	NM_016642.4	NP_057726.4:p.(His2439=)	NC_000015.9:g.42154805G>A	(Likely) benign	1 lab	9076e5bc83
9:135801128 TSC1 T>C	9	135801128	135801128	T	C	TSC1	c.211-2A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135801128T>C	(Likely) pathogenic	1 lab	907a2bbe22
17:2583499 PAFAH1B1 TG>T	17	2583499	2583505	TG	T	PAFAH1B1	c.1050del	NM_000430.4	NP_000421.1:p.(Lys351SerfsTer4)	NC_000017.10:g.2583505del	(Likely) pathogenic	1 lab	907a38ec08
17:18024329 MYO15A C>G	17	18024329	18024329	C	G	MYO15A	c.2215C>G	NM_016239.3	NP_057323.3:p.(Pro739Ala)	NC_000017.10:g.18024329C>G	VUS	1 lab	907a561a9f
11:18309192 HPS5 CTTGA>C	11	18309192	18309198	CTTGA	C	HPS5	c.2603_2606del	NM_181507.2	NP_852608.1:p.(Ile868SerfsTer26)	NC_000011.9:g.18309195_18309198del	(Likely) pathogenic	1 lab	907a6d1d07
2:47630453 MSH2 C>T	2	47630453	47630453	C	T	MSH2	c.123C>T	NM_000251.2	NP_000242.1:p.(Asp41=)	NC_000002.11:g.47630453C>T	(Likely) benign	1 lab	907aa403d8
10:21139332 NEBL G>T	10	21139332	21139332	G	T	NEBL	c.1108C>A	NM_006393.2	NP_006384.1:p.(Gln370Lys)	NC_000010.10:g.21139332G>T	VUS	1 lab	907abd504c
8:48878762 MCM4 T>C	8	48878762	48878762	T	C	MCM4	c.848T>C	NM_005914.4	NP_005905.2:p.(Ile283Thr)	NC_000008.10:g.48878762T>C	VUS	1 lab	907cb62467
7:82451900 PCLO T>C	7	82451900	82451900	T	C	PCLO	c.14702A>G	NM_033026.5	NP_149015.2:p.(Lys4901Arg)	NC_000007.13:g.82451900T>C	VUS	1 lab	907d5cdeca
5:149447887 CSF1R T>C	5	149447887	149447887	T	C	CSF1R	c.1517A>G	NM_005211.3	NP_005202.2:p.(His506Arg)	NC_000005.9:g.149447887T>C	(Likely) benign	1 lab	907da01dfa
5:149509345 PDGFRB C>T	5	149509345	149509345	C	T	PDGFRB	c.1554G>A	NM_002609.3	NP_002600.1:p.(Thr518=)	NC_000005.9:g.149509345C>T	(Likely) benign	1 lab	907f7ce639
2:239161563 PER2 G>A	2	239161563	239161563	G	A	PER2	c.3101C>T	NM_022817.2	NP_073728.1:p.(Ala1034Val)	NC_000002.11:g.239161563G>A	VUS	1 lab	908073ea52
20:33575434 MYH7B C>T	20	33575434	33575434	C	T	MYH7B	c.1348C>T	NM_020884.4	NP_065935.3:p.(Arg450Cys)	NC_000020.10:g.33575434C>T	VUS	1 lab	9082d0fcf7
X:131220057 FRMD7 G>A	X	131220057	131220057	G	A	FRMD7	c.388C>T	NM_194277.2	NP_919253.1:p.(Leu130Phe)	NC_000023.10:g.131220057G>A	(Likely) benign	1 lab	9082f51bdb
6:161127499 PLG C>G	6	161127499	161127499	C	G	PLG	c.110C>G	NM_000301.3	NP_000292.1:p.(Thr37Ser)	NC_000006.11:g.161127499C>G	(Likely) benign	1 lab	908369d195
2:32289077 SPAST A>G	2	32289077	32289077	A	G	SPAST	c.177A>G	NM_014946.3	NP_055761.2:p.(Val59=)	NC_000002.11:g.32289077A>G	(Likely) benign	1 lab	9084969a84
6:129785560 LAMA2 C>T	6	129785560	129785560	C	T	LAMA2	c.7118C>T	NM_000426.3	NP_000417.2:p.(Ser2373Leu)	NC_000006.11:g.129785560C>T	VUS	1 lab	908563226a
18:61018218 KDSR A>G	18	61018218	61018218	A	G	KDSR	c.512T>C	NM_002035.4	NP_002026.1:p.(Val171Ala)	NC_000018.9:g.61018218A>G	VUS	1 lab	fd8ab42b1e
19:7615974 PNPLA6 T>C	19	7615974	7615974	T	C	PNPLA6	c.2192T>C	NM_001166111.1	NP_001159583.1:p.(Ile731Thr)	NC_000019.9:g.7615974T>C	VUS	1 lab	908687a491
19:50412397 NUP62 G>A	19	50412397	50412397	G	A	NUP62	c.668C>T	NM_016553.4	NP_057637.2:p.(Ala223Val)	NC_000019.9:g.50412397G>A	(Likely) benign	1 lab	9088cf3f30
19:40875810 PLD3 C>G	19	40875810	40875810	C	G	PLD3	c.430-5C>G	NM_012268.3	NP_036400.2:p.?	NC_000019.9:g.40875810C>G	(Likely) benign	1 lab	9089faae99
13:32953937 BRCA2 G>A	13	32953937	32953937	G	A	BRCA2	c.9004G>A	NM_000059.4	NP_000050.3:p.(Glu3002Lys)	NC_000013.10:g.32953937G>A	(Likely) pathogenic	1 lab	fd8b9a5ae3
10:101643851 DNMBP G>A	10	101643851	101643851	G	A	DNMBP	c.3914C>T	NM_015221.4	NP_056036.1:p.(Ser1305Leu)	NC_000010.10:g.101643851G>A	VUS	1 lab	908be81ca9
14:23884264 MYH7 G>A	14	23884264	23884264	G	A	MYH7	c.5499C>T	NM_000257.2	NP_000248.2:p.(Asn1833=)	NC_000014.8:g.23884264G>A	(Likely) benign	1 lab	908c6fe9ce
12:133220508 POLE A>G	12	133220508	133220508	A	G	POLE	c.4205T>C	NM_006231.4	NP_006222.2:p.(Val1402Ala)	NC_000012.11:g.133220508A>G	VUS	1 lab	fd8bac0c6b
2:84931295 DNAH6 T>C	2	84931295	84931295	T	C	DNAH6	c.8334T>C	NM_001370.1	NP_001361.1:p.(Pro2778=)	NC_000002.11:g.84931295T>C	(Likely) benign	1 lab	908ebe7fe4
3:58112442 FLNB C>T	3	58112442	58112442	C	T	FLNB	c.4175C>T	NM_001164317.1	NP_001157789.1:p.(Pro1392Leu)	NC_000003.11:g.58112442C>T	VUS	1 lab	9090ffe299
17:29422354 NF1 G>A	17	29422354	29422354	G	A	NF1	c.27G>A	NM_000267.3	NP_000258.1:p.(Trp9Ter)	NC_000017.10:g.29422354G>A	(Likely) pathogenic	1 lab	90959bdbef
7:2559843 LFNG C>T	7	2559843	2559843	C	T	LFNG	c.348C>T	NM_001040167.2	NP_001035257.1:p.(Phe116=)	NC_000007.13:g.2559843C>T	(Likely) benign	1 lab	909703c5d1
2:174231004 CDCA7 T>C	2	174231004	174231004	T	C	CDCA7	c.1036-7T>C	NM_031942.4	NP_114148.3:p.?	NC_000002.11:g.174231004T>C	(Likely) benign	1 lab	90973e8233
11:57373654 SERPING1 G>A	11	57373654	57373654	G	A	SERPING1	c.857G>A	NM_000062.2	NP_000053.2:p.(Arg286His)	NC_000011.9:g.57373654G>A	(Likely) benign	1 lab	9098ecf79f
12:53701866 AAAS C>T	12	53701866	53701866	C	T	AAAS	c.1301G>A	NM_015665.5	NP_056480.1:p.(Arg434Gln)	NC_000012.11:g.53701866C>T	(Likely) benign	1 lab	909a139943
9:71863011 TJP2 C>T	9	71863011	71863011	C	T	TJP2	c.2751C>T	NM_004817.4	NP_004808.2:p.(Arg917=)	NC_000009.11:g.71863011C>T	(Likely) benign	1 lab	909a2e5b32
13:101936340 NALCN G>A	13	101936340	101936340	G	A	NALCN	c.1078C>T	NM_001350748.1	NP_001337677.1:p.(Gln360Ter)	NC_000013.10:g.101936340G>A	VUS	1 lab	909a64fa8f
11:66639263 PC C>T	11	66639263	66639263	C	T	PC	c.216G>A	NM_001040716.1	NP_001035806.1:p.(Thr72=)	NC_000011.9:g.66639263C>T	(Likely) benign	1 lab	909b098093
14:23862119 MYH6 A>G	14	23862119	23862119	A	G	MYH6	c.3251+2T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23862119A>G	VUS	1 lab	909b41c84e
10:99510123 ZFYVE27 A>G	10	99510123	99510123	A	G	ZFYVE27	c.700A>G	NM_144588.6	NP_653189.3:p.(Met234Val)	NC_000010.10:g.99510123A>G	(Likely) benign	1 lab	909b9281e8
7:19156508 TWIST1 A>C	7	19156508	19156508	A	C	TWIST1	c.437T>G	NM_000474.3	NP_000465.1:p.(Ile146Ser)	NC_000007.13:g.19156508A>C	VUS	1 lab	909c51cca9
7:21742329 DNAH11 A>G	7	21742329	21742329	A	G	DNAH11				NC_000007.13:g.21742329A>G	VUS	1 lab	910ae2094e
2:1657407 PXDN G>A	2	1657407	1657407	G	A	PXDN	c.2097C>T	NM_012293.2	NP_036425.1:p.(Asn699=)	NC_000002.11:g.1657407G>A	(Likely) benign	1 lab	909cc1a325
1:228401357 OBSCN T>C	1	228401357	228401357	T	C	OBSCN	c.1204T>C	NM_001271223.2	NP_001258152.2:p.(Tyr402His)	NC_000001.10:g.228401357T>C	VUS	1 lab	909ddd3cd8
20:42744958 JPH2 G>A	20	42744958	42744958	G	A	JPH2	c.1357C>T	NM_020433.4	NP_065166.2:p.(Pro453Ser)	NC_000020.10:g.42744958G>A	(Likely) benign	1 lab	909e70620c
7:124493082 POT1 G>T	7	124493082	124493082	G	T	POT1	c.813C>A	NM_015450.2	NP_056265.2:p.(Tyr271Ter)	NC_000007.13:g.124493082G>T	(Likely) pathogenic	1 lab	909ec2731c
22:38119894 TRIOBP G>A	22	38119894	38119894	G	A	TRIOBP	c.1331G>A	NM_001039141.3	NP_001034230.1:p.(Ser444Asn)	NC_000022.10:g.38119894G>A	(Likely) benign	1 lab	fd8c52471b
2:69379324 ANTXR1 C>T	2	69379324	69379324	C	T	ANTXR1	c.975C>T	NM_032208.2	NP_115584.1:p.(Ile325=)	NC_000002.11:g.69379324C>T	(Likely) benign	1 lab	90a2cb48b6
4:6303339 WFS1 T>G	4	6303339	6303339	T	G	WFS1	c.1817T>G	NM_006005.3	NP_005996.2:p.(Val606Gly)	NC_000004.11:g.6303339T>G	VUS	1 lab	90a43e854f
17:12921256 ELAC2 C>G	17	12921256	12921256	C	G	ELAC2	c.9G>C	NM_018127.6	NP_060597.4:p.(Ala3=)	NC_000017.10:g.12921256C>G	(Likely) benign	1 lab	90a56fff8c
X:16142431 GRPR A>G	X	16142431	16142431	A	G	GRPR	c.355A>G	NM_005314.2	NP_005305.1:p.(Ile119Val)	NC_000023.10:g.16142431A>G	VUS	1 lab	90a6f14d92
17:41256318 BRCA1 G>C	17	41256318	41256318	G	C	BRCA1	c.302-40C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256318G>C	(Likely) benign	1 lab	90a7563491
15:43910297 STRC G>GCTC	15	43910297	43910301	G	GCTC	STRC	c.319_321dup	NM_153700.2	NP_714544.1:p.(Glu107dup)	NC_000015.9:g.43910299_43910301dup	VUS	1 lab	90a86c0304
22:38097468 TRIOBP C>T	22	38097468	38097468	C	T	TRIOBP	c.96C>T	NM_001039141.2	NP_001034230.1:p.(Ala32=)	NC_000022.10:g.38097468C>T	(Likely) benign	1 lab	90a8c6676a
2:27465632 CAD G>A	2	27465632	27465632	G	A	CAD	c.6367G>A	NM_004341.4	NP_004332.2:p.(Gly2123Ser)	NC_000002.11:g.27465632G>A	VUS	1 lab	90aaf6f30a
4:146648078 C4orf51 T>C	4	146648078	146648078	T	C	C4orf51	c.323T>C	NM_001080531.2	NP_001074000.1:p.(Ile108Thr)	NC_000004.11:g.146648078T>C	(Likely) benign	1 lab	90ab9db9b8
6:152651517 SYNE1 T>C	6	152651517	152651517	T	C	SYNE1	c.14303A>G	NM_182961.3	NP_892006.3:p.(Gln4768Arg)	NC_000006.11:g.152651517T>C	VUS	1 lab	90ac686fbe
17:29557384 NF1 C>T	17	29557384	29557384	C	T	NF1	c.3097C>T	NM_000267.3	NP_000258.1:p.(Gln1033Ter)	NC_000017.10:g.29557384C>T	(Likely) pathogenic	1 lab	90ad8fc06d
8:77763721 ZFHX4 C>T	8	77763721	77763721	C	T	ZFHX4	c.4564C>T	NM_024721.4	NP_078997.4:p.(Pro1522Ser)	NC_000008.10:g.77763721C>T	VUS	1 lab	90ad9da6c3
21:47851587 PCNT C>T	21	47851587	47851587	C	T	PCNT	c.8209C>T	NM_006031.5	NP_006022.3:p.(Arg2737Trp)	NC_000021.8:g.47851587C>T	VUS	1 lab	90af3d595c
19:47979846 KPTN G>A	19	47979846	47979846	G	A	KPTN	c.1125C>T	NM_007059.3	NP_008990.2:p.(Thr375=)	NC_000019.9:g.47979846G>A	(Likely) benign	1 lab	90af67c67e
17:6524121 KIAA0753 C>T	17	6524121	6524121	C	T	KIAA0753	c.405G>A	NM_001351225.1	NP_001338154.1:p.(Lys135=)	NC_000017.10:g.6524121C>T	(Likely) benign	1 lab	90b0743fa6
X:100510223 DRP2 C>T	X	100510223	100510223	C	T	DRP2	c.2231C>T	NM_001939.2	NP_001930.2:p.(Ser744Phe)	NC_000023.10:g.100510223C>T	VUS	1 lab	90b198b399
X:46914014 JADE3 G>A	X	46914014	46914014	G	A	JADE3	c.1427G>A	NM_014735.5	NP_055550.1:p.(Arg476His)	NC_000023.10:g.46914014G>A	VUS	1 lab	90b33c3cf4
1:158608016 SPTA1 G>A	1	158608016	158608016	G	A	SPTA1	c.4996C>T	NM_003126.3	NP_003117.2:p.(Leu1666=)	NC_000001.10:g.158608016G>A	(Likely) benign	1 lab	90b4d6e436
6:90503524 MDN1 C>G	6	90503524	90503524	C	G	MDN1	c.812G>C	NM_014611.2	NP_055426.1:p.(Cys271Ser)	NC_000006.11:g.90503524C>G	VUS	1 lab	90b60c9c8a
20:35457510 MTCL2 C>T	20	35457510	35457510	C	T	MTCL2	c.1018G>A	NM_080627.4	NP_542194.2:p.(Glu340Lys)	NC_000020.10:g.35457510C>T	VUS	1 lab	90b64792a4
14:105416448 AHNAK2 G>A	14	105416448	105416448	G	A	AHNAK2	c.5340C>T	NM_138420.3	NP_612429.2:p.(Pro1780=)	NC_000014.8:g.105416448G>A	(Likely) benign	1 lab	90b65036eb
19:14029314 CC2D1A C>CA	19	14029314	14029315	C	CA	CC2D1A	c.874-2dup	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14029315dup	(Likely) benign	1 lab	90b6953914
3:58127635 FLNB T>C	3	58127635	58127635	T	C	FLNB	c.5253T>C	NM_001164317.1	NP_001157789.1:p.(Cys1751=)	NC_000003.11:g.58127635T>C	(Likely) benign	1 lab	90b6e17d71
2:55900032 PNPT1 G>A	2	55900032	55900032	G	A	PNPT1	c.862C>T	NM_033109.4	NP_149100.2:p.(His288Tyr)	NC_000002.11:g.55900032G>A	(Likely) benign	1 lab	90b7447a14
11:64974282 CAPN1 C>T	11	64974282	64974282	C	T	CAPN1	c.1597C>T	NM_001198868.1	NP_001185797.1:p.(Pro533Ser)	NC_000011.9:g.64974282C>T	(Likely) benign	1 lab	90b7ab33c6
9:2717960 KCNV2 A>G	9	2717960	2717960	A	G	KCNV2	c.221A>G	NM_133497.3	NP_598004.1:p.(Glu74Gly)	NC_000009.11:g.2717960A>G	VUS	1 lab	90ba06d25b
18:7013954 LAMA1 C>T	18	7013954	7013954	C	T	LAMA1	c.3223G>A	NM_005559.3	NP_005550.2:p.(Asp1075Asn)	NC_000018.9:g.7013954C>T	(Likely) benign	1 lab	90baadb08c
3:8983457 RAD18 G>A	3	8983457	8983457	G	A	RAD18	c.298C>T	NM_020165.4	NP_064550.3:p.(Pro100Ser)	NC_000003.11:g.8983457G>A	VUS	1 lab	90bb26709b
15:65916610 SLC24A1 T>C	15	65916610	65916610	T	C	SLC24A1	c.192T>C	NM_004727.2	NP_004718.1:p.(Ser64=)	NC_000015.9:g.65916610T>C	(Likely) benign	1 lab	90bc2b4835
7:1524934 INTS1 G>A	7	1524934	1524934	G	A	INTS1	c.3148C>T	NM_001080453.3	NP_001073922.2:p.(Leu1050=)	NC_000007.13:g.1524934G>A	(Likely) benign	1 lab	90beff4274
16:9857823 GRIN2A A>C	16	9857823	9857823	A	C	GRIN2A	c.3578T>G	NM_001134407.3	NP_001127879.1:p.(Leu1193Trp)	NC_000016.9:g.9857823A>C	VUS	1 lab	90c06eedf4
7:47853578 PKD1L1 C>T	7	47853578	47853578	C	T	PKD1L1	c.7124G>A	NM_138295.4	NP_612152.1:p.(Gly2375Asp)	NC_000007.13:g.47853578C>T	VUS	1 lab	90c0b8ae11
6:52103552 IL17F C>T	6	52103552	52103552	C	T	IL17F	c.230G>A	NM_052872.3	NP_443104.1:p.(Arg77His)	NC_000006.11:g.52103552C>T	VUS	1 lab	90c1bdf1d8
2:166872187 SCN1A G>A	2	166872187	166872187	G	A	SCN1A	c.3480C>T	NM_001165963.2	NP_001159435.1:p.(Gly1160=)	NC_000002.11:g.166872187G>A	(Likely) benign	1 lab	90c237cc73
11:124793632 HEPACAM G>A	11	124793632	124793632	G	A	HEPACAM	c.702C>T	NM_152722.4	NP_689935.2:p.(Thr234=)	NC_000011.9:g.124793632G>A	(Likely) benign	1 lab	90c4cbd0f0
14:77493476 IRF2BPL TGAA>T	14	77493476	77493485	TGAA	T	IRF2BPL	c.657_659del	NM_024496.4	NP_078772.1:p.(Ser220del)	NC_000014.8:g.77493483_77493485del	VUS	1 lab	90c791e0e6
7:138529202 KIAA1549 C>G	7	138529202	138529202	C	G	KIAA1549	c.5312G>C	NM_001164665.1	NP_001158137.1:p.(Gly1771Ala)	NC_000007.13:g.138529202C>G	VUS	1 lab	90c7b015f8
11:1264376 MUC5B C>T	11	1264376	1264376	C	T	MUC5B	c.6266C>T	NM_002458.2	NP_002449.2:p.(Thr2089Met)	NC_000011.9:g.1264376C>T	(Likely) benign	1 lab	90c92a041f
9:328041 DOCK8 G>T	9	328041	328041	G	T	DOCK8	c.914G>T	NM_203447.3	NP_982272.2:p.(Cys305Phe)	NC_000009.11:g.328041G>T	(Likely) benign	1 lab	90ca86276f
1:115428747 SYCP1 G>C	1	115428747	115428747	G	C	SYCP1	c.1007G>C	NM_001282541.1	NP_001269470.1:p.(Ser336Thr)	NC_000001.10:g.115428747G>C	(Likely) benign	1 lab	90caa4a249
20:62303953 RTEL1 C>T	20	62303953	62303953	C	T	RTEL1	c.744C>T	NM_001283009.1	NP_001269938.1:p.(Ile248=)	NC_000020.10:g.62303953C>T	(Likely) benign	1 lab	90cce6f2d0
X:53562376 HUWE1 A>G	X	53562376	53562376	A	G	HUWE1	c.12618T>C	NM_031407.6	NP_113584.3:p.(Tyr4206=)	NC_000023.10:g.53562376A>G	(Likely) benign	1 lab	90ce5bb474
X:150842530 PASD1 C>T	X	150842530	150842530	C	T	PASD1	c.2047C>T	NM_173493.2	NP_775764.2:p.(Leu683=)	NC_000023.10:g.150842530C>T	(Likely) benign	1 lab	90ce9ad654
12:72056926 ZFC3H1 A>G	12	72056926	72056926	A	G	ZFC3H1	c.465T>C	NM_144982.4	NP_659419.3:p.(Ser155=)	NC_000012.11:g.72056926A>G	(Likely) benign	1 lab	90cf2687aa
16:3639103 SLX4 G>A	16	3639103	3639103	G	A	SLX4	c.4536C>T	NM_032444.2	NP_115820.2:p.(Asp1512=)	NC_000016.9:g.3639103G>A	(Likely) benign	1 lab	90d0d2bd60
2:216295470 FN1 T>G	2	216295470	216295470	T	G	FN1	c.653A>C	NM_212482.2	NP_997647.1:p.(Glu218Ala)	NC_000002.11:g.216295470T>G	VUS	1 lab	90d3fd5b1e
15:43256180 UBR1 G>A	15	43256180	43256180	G	A	UBR1	c.4653C>T	NM_174916.2	NP_777576.1:p.(Phe1551=)	NC_000015.9:g.43256180G>A	(Likely) benign	1 lab	90d44b3e09
13:41383686 SLC25A15 G>A	13	41383686	41383686	G	A	SLC25A15	c.789G>A	NM_014252.3	NP_055067.1:p.(Thr263=)	NC_000013.10:g.41383686G>A	(Likely) benign	1 lab	90d4a118f4
2:55920882 PNPT1 C>T	2	55920882	55920882	C	T	PNPT1	c.77G>A	NM_033109.4	NP_149100.2:p.(Arg26Gln)	NC_000002.11:g.55920882C>T	VUS	1 lab	90d4e50bdc
21:47685435 MCM3AP C>T	21	47685435	47685435	C	T	MCM3AP	c.3034G>A	NM_003906.4	NP_003897.2:p.(Gly1012Arg)	NC_000021.8:g.47685435C>T	(Likely) benign	1 lab	90d75d66b0
11:47330206 MADD C>T	11	47330206	47330206	C	T	MADD	c.3824C>T	NM_003682.3	NP_003673.3:p.(Ser1275Phe)	NC_000011.9:g.47330206C>T	(Likely) benign	1 lab	90d85312ba
17:39021078 KRT12 T>C	17	39021078	39021078	T	C	KRT12	c.787A>G	NM_000223.4	NP_000214.1:p.(Met263Val)	NC_000017.10:g.39021078T>C	(Likely) benign	1 lab	90d8b08618
5:161529630 GABRG2 G>A	5	161529630	161529630	G	A	GABRG2	c.702G>A	NM_198903.2	NP_944493.2:p.(Trp234Ter)	NC_000005.9:g.161529630G>A	VUS	1 lab	90d9345a6d
10:74714264 PLA2G12B C>A	10	74714264	74714264	C	A	PLA2G12B	c.180G>T	NM_032562.4	NP_115951.2:p.(Lys60Asn)	NC_000010.10:g.74714264C>A	VUS	1 lab	90da25d311
6:49425464 MMUT G>GT	6	49425464	49425465	G	GT	MMUT	c.692dup	NM_000255.3	NP_000246.2:p.(Tyr231Ter)	NC_000006.11:g.49425465dup	(Likely) pathogenic	1 lab	90dbdfa7f9
6:157522507 ARID1B C>T	6	157522507	157522507	C	T	ARID1B	c.4779C>T	NM_020732.3	NP_065783.3:p.(Thr1593=)	NC_000006.11:g.157522507C>T	(Likely) benign	1 lab	90dedca2d8
2:121747711 GLI2 G>A	2	121747711	121747711	G	A	GLI2	c.4221G>A	NM_005270.4	NP_005261.2:p.(Pro1407=)	NC_000002.11:g.121747711G>A	(Likely) benign	1 lab	90dffd7da9
2:121742042 GLI2 C>T	2	121742042	121742042	C	T	GLI2	c.1684-5C>T	NM_005270.4	NP_005261.2:p.?	NC_000002.11:g.121742042C>T	(Likely) benign	1 lab	90e281f02b
X:153296071 MECP2 GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCA>G	X	153296071	153296108	GGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCA	G	MECP2	c.1173_1207del	NM_004992.4	NP_004983.1:p.(Glu392Ter)	NC_000023.10:g.153296074_153296108del	(Likely) pathogenic	1 lab	fd9add1604
6:31594628 PRRC2A T>A	6	31594628	31594628	T	A	PRRC2A	c.1062T>A	NM_004638.3	NP_004629.3:p.(Gly354=)	NC_000006.11:g.31594628T>A	(Likely) benign	1 lab	90e3e091e4
10:64973843 JMJD1C G>A	10	64973843	64973843	G	A	JMJD1C	c.2084C>T	NM_032776.3	NP_116165.1:p.(Thr695Ile)	NC_000010.10:g.64973843G>A	VUS	1 lab	fd9c0d01e3
X:53222195 KDM5C C>CGGG	X	53222195	53222199	C	CGGG	KDM5C	c.4634_4636dup	NM_004187.3	NP_004178.2:p.(Pro1545dup)	NC_000023.10:g.53222197_53222199dup	VUS	1 lab	90e50d61f2
3:14180693 TMEM43 G>C	3	14180693	14180693	G	C	TMEM43	c.896G>C	NM_024334.2	NP_077310.1:p.(Arg299Thr)	NC_000003.11:g.14180693G>C	(Likely) benign	1 lab	90e5286722
2:232160910 ARMC9 G>A	2	232160910	232160910	G	A	ARMC9	c.1718-1G>A	NM_001271466.3	NP_001258395.1:p.?	NC_000002.11:g.232160910G>A	(Likely) pathogenic	1 lab	90e760671f
6:129714235 LAMA2 G>A	6	129714235	129714235	G	A	LAMA2	c.5280G>A	NM_000426.3	NP_000417.2:p.(Glu1760=)	NC_000006.11:g.129714235G>A	(Likely) benign	1 lab	90e97b3322
11:33891081 LMO2 C>A	11	33891081	33891081	C	A	LMO2	c.59G>T	NM_005574.4	NP_005565.2:p.(Arg20Leu)	NC_000011.9:g.33891081C>A	(Likely) benign	1 lab	90ea125692
2:242011067 SNED1 G>A	2	242011067	242011067	G	A	SNED1	c.3666G>A	NM_001080437.3	NP_001073906.1:p.(Pro1222=)	NC_000002.11:g.242011067G>A	(Likely) benign	1 lab	90eb5152ee
X:140983300 MAGEC3 C>T	X	140983300	140983300	C	T	MAGEC3	c.1078C>T	NM_138702.1	NP_619647.1:p.(Arg360Cys)	NC_000023.10:g.140983300C>T	(Likely) benign	1 lab	90eb8fde38
16:76587326 CNTNAP4 G>A	16	76587326	76587326	G	A	CNTNAP4	c.3325G>A	NM_001322189.1	NP_001309118.1:p.(Val1109Met)	NC_000016.9:g.76587326G>A	VUS	1 lab	90ebe82abd
15:28269988 OCA2 C>T	15	28269988	28269988	C	T	OCA2	c.573+3G>A	NM_000275.2	NP_000266.2:p.?	NC_000015.9:g.28269988C>T	(Likely) benign	1 lab	90ebfd4843
1:173743472 KLHL20 C>T	1	173743472	173743472	C	T	KLHL20	c.1324C>T	NM_014458.3	NP_055273.2:p.(Arg442Trp)	NC_000001.10:g.173743472C>T	VUS	1 lab	90edd6086e
3:43618335 ANO10 G>A	3	43618335	43618335	G	A	ANO10	c.1011C>T	NM_001346464.1	NP_001333393.1:p.(Phe337=)	NC_000003.11:g.43618335G>A	(Likely) benign	1 lab	90ee1fd236
15:90188238 KIF7 C>G	15	90188238	90188238	C	G	KIF7	c.2191+6G>C	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90188238C>G	(Likely) benign	1 lab	90ee8d9d10
X:41204677 DDX3X A>G	X	41204677	41204677	A	G	DDX3X	c.1191A>G	NM_001356.4	NP_001347.3:p.(Leu397=)	NC_000023.10:g.41204677A>G	(Likely) benign	1 lab	90eeffd1f1
9:133951230 LAMC3 C>T	9	133951230	133951230	C	T	LAMC3	c.3507C>T	NM_006059.3	NP_006050.3:p.(Thr1169=)	NC_000009.11:g.133951230C>T	(Likely) benign	1 lab	90f576fa8f
5:137518675 KIF20A G>A	5	137518675	137518675	G	A	KIF20A	c.828G>A	NM_005733.3	NP_005724.1:p.(Leu276=)	NC_000005.9:g.137518675G>A	(Likely) benign	1 lab	90f9726844
6:165848781 PDE10A C>T	6	165848781	165848781	C	T	PDE10A	c.451G>A	NM_006661.3	NP_006652.1:p.(Val151Ile)	NC_000006.11:g.165848781C>T	(Likely) benign	1 lab	90f998f42a
3:142841179 CHST2 C>T	3	142841179	142841179	C	T	CHST2	c.1521C>T	NM_004267.4	NP_004258.2:p.(Gly507=)	NC_000003.11:g.142841179C>T	(Likely) benign	1 lab	90fc74e4eb
12:49722816 TROAP C>T	12	49722816	49722816	C	T	TROAP	c.998C>T	NM_005480.4	NP_005471.3:p.(Pro333Leu)	NC_000012.11:g.49722816C>T	(Likely) benign	1 lab	90fd3faed1
14:91805665 CCDC88C G>A	14	91805665	91805665	G	A	CCDC88C	c.766C>T	NM_001080414.3	NP_001073883.2:p.(Leu256=)	NC_000014.8:g.91805665G>A	(Likely) benign	1 lab	90fedbeab0
X:151818227 GABRQ C>T	X	151818227	151818227	C	T	GABRQ	c.633C>T	NM_018558.3	NP_061028.3:p.(Ile211=)	NC_000023.10:g.151818227C>T	(Likely) benign	1 lab	90ffa6fa83
10:103530121 FGF8 C>T	10	103530121	103530121	C	T	FGF8	c.700G>A	NM_033163.3	NP_149353.1:p.(Gly234Ser)	NC_000010.10:g.103530121C>T	VUS	1 lab	9100046d80
17:29556986 NF1 T>C	17	29556986	29556986	T	C	NF1	c.2984T>C	NM_000267.3	NP_000258.1:p.(Leu995Pro)	NC_000017.10:g.29556986T>C	VUS	1 lab	91004ed850
22:50945401 LMF2 C>A	22	50945401	50945401	C	A	LMF2	c.158G>T	NM_033200.3	NP_149977.2:p.(Arg53Leu)	NC_000022.10:g.50945401C>A	(Likely) benign	1 lab	9100c87af7
7:4827794 AP5Z1 G>A	7	4827794	4827794	G	A	AP5Z1	c.1464G>A	NM_014855.3	NP_055670.1:p.(Pro488=)	NC_000007.13:g.4827794G>A	(Likely) benign	1 lab	910132f1b0
X:153490580 MISSING G>A	X	153490580	153490580	G	A	MISSING				NC_000023.10:g.153490580G>A	VUS	1 lab	91018bfc91
6:137191043 PEX7 G>A	6	137191043	137191043	G	A	PEX7	c.649G>A	NM_000288.4	NP_000279.1:p.(Gly217Arg)	NC_000006.11:g.137191043G>A	(Likely) pathogenic	1 lab	fd9c82b9c0
11:102668051 MMP1 C>T	11	102668051	102668051	C	T	MMP1	c.286G>A	NM_002421.3	NP_002412.1:p.(Asp96Asn)	NC_000011.9:g.102668051C>T	VUS	1 lab	910294fed6
12:1989031 CACNA2D4 G>C	12	1989031	1989031	G	C	CACNA2D4	c.1502C>G	NM_172364.4	NP_758952.4:p.(Ala501Gly)	NC_000012.11:g.1989031G>C	VUS	1 lab	9103051794
X:23353286 PTCHD1 C>T	X	23353286	23353286	C	T	PTCHD1	c.294C>T	NM_173495.2	NP_775766.2:p.(Val98=)	NC_000023.10:g.23353286C>T	(Likely) benign	1 lab	9103aa1837
7:151860622 KMT2C T>C	7	151860622	151860622	T	C	KMT2C	c.10040A>G	NM_170606.2	NP_733751.2:p.(Asn3347Ser)	NC_000007.13:g.151860622T>C	(Likely) benign	1 lab	9103d05c70
5:56178344 MAP3K1 T>C	5	56178344	56178344	T	C	MAP3K1	c.3317T>C	NM_005921.1	NP_005912.1:p.(Ile1106Thr)	NC_000005.9:g.56178344T>C	VUS	1 lab	91042f9dce
6:51798937 PKHD1 G>A	6	51798937	51798937	G	A	PKHD1	c.6092C>T	NM_138694.3	NP_619639.3:p.(Ala2031Val)	NC_000006.11:g.51798937G>A	VUS	1 lab	91058922e5
16:2134539 TSC2 G>A	16	2134539	2134539	G	A	TSC2	c.4316G>A	NM_000548.3	NP_000539.2:p.(Gly1439Asp)	NC_000016.9:g.2134539G>A	(Likely) benign	1 lab	910633134f
X:154509257 CLIC2 T>C	X	154509257	154509257	T	C	CLIC2	c.394A>G	NM_001289.5	NP_001280.3:p.(Asn132Asp)	NC_000023.10:g.154509257T>C	VUS	1 lab	910702a6c6
16:2134973 TSC2 C>G	16	2134973	2134973	C	G	TSC2	c.4515C>G	NM_000548.3	NP_000539.2:p.(Tyr1505Ter)	NC_000016.9:g.2134973C>G	(Likely) pathogenic	1 lab	910737fbc5
3:132407725 NPHP3 G>A	3	132407725	132407725	G	A	NPHP3	c.2894C>T	NM_153240.4	NP_694972.3:p.(Pro965Leu)	NC_000003.11:g.132407725G>A	VUS	1 lab	910975613e
15:40708277 IVD T>C	15	40708277	40708277	T	C	IVD	c.1048T>C	NM_001354599.2	NP_001341528.2:p.(Leu350=)	NC_000015.9:g.40708277T>C	(Likely) benign	1 lab	910ca3ae8c
9:117684 FOXD4 G>A	9	117684	117684	G	A	FOXD4	c.436C>T	NM_207305.5	NP_997188.2:p.(Pro146Ser)	NC_000009.11:g.117684G>A	VUS	1 lab	fda313beb5
9:35738127 GBA2 G>T	9	35738127	35738127	G	T	GBA2	c.2220C>A	NM_001330660.1	NP_001317589.1:p.(Ser740Arg)	NC_000009.11:g.35738127G>T	VUS	1 lab	910dc5c81b
10:78669726 KCNMA1 C>T	10	78669726	78669726	C	T	KCNMA1	c.2971G>A	NM_002247.4	NP_002238.2:p.(Ala991Thr)	NC_000010.10:g.78669726C>T	VUS	1 lab	fda31772bd
5:113697772 KCNN2 C>A	5	113697772	113697772	C	A	KCNN2	c.134C>A	NM_001372233.1	NP_001359162.1:p.(Pro45Gln)	NC_000005.9:g.113697772C>A	(Likely) benign	1 lab	fda38608c7
1:27023357 ARID1A G>A	1	27023357	27023357	G	A	ARID1A	c.463G>A	NM_006015.4	NP_006006.3:p.(Gly155Ser)	NC_000001.10:g.27023357G>A	VUS	1 lab	910eb354b6
15:48936793 FBN1 G>C	15	48936793	48936793	G	C	FBN1	c.164+10C>G	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48936793G>C	(Likely) benign	1 lab	910f45935d
7:107564736 LAMB1 C>G	7	107564736	107564736	C	G	LAMB1	c.5163G>C	NM_002291.2	NP_002282.2:p.(Met1721Ile)	NC_000007.13:g.107564736C>G	(Likely) benign	1 lab	910fcd4957
5:118525472 DMXL1 A>C	5	118525472	118525472	A	C	DMXL1	c.6686A>C	NM_001290322.2	NP_001277251.1:p.(Glu2229Ala)	NC_000005.9:g.118525472A>C	(Likely) benign	1 lab	9114ffabf1
19:46278261 DMPK G>A	19	46278261	46278261	G	A	DMPK	c.1208C>T	NM_001081563.2	NP_001075032.1:p.(Pro403Leu)	NC_000019.9:g.46278261G>A	(Likely) benign	1 lab	911630c787
1:24134712 HMGCL G>A	1	24134712	24134712	G	A	HMGCL	c.663C>T	NM_000191.2	NP_000182.2:p.(Val221=)	NC_000001.10:g.24134712G>A	(Likely) benign	1 lab	9116ff1e68
3:78709561 ROBO1 C>T	3	78709561	78709561	C	T	ROBO1	c.2321-604G>A	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78709561C>T	VUS	1 lab	fda3d8d0fc
10:61831623 ANK3 T>C	10	61831623	61831623	T	C	ANK3	c.9016A>G	NM_020987.5	NP_066267.2:p.(Thr3006Ala)	NC_000010.10:g.61831623T>C	(Likely) benign	1 lab	9118c6ce10
1:6500836 ESPN C>T	1	6500836	6500836	C	T	ESPN	c.826C>T	NM_031475.3	NP_113663.2:p.(Leu276=)	NC_000001.10:g.6500836C>T	(Likely) benign	1 lab	9118d7b75f
17:41267826 BRCA1 A>G	17	41267826	41267826	A	G	BRCA1	c.81-30T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267826A>G	(Likely) benign	1 lab	9118ef08b5
21:45504041 TRAPPC10 C>T	21	45504041	45504041	C	T	TRAPPC10	c.2277C>T	NM_003274.4	NP_003265.3:p.(Cys759=)	NC_000021.8:g.45504041C>T	(Likely) benign	1 lab	911902961d
17:7460514 TNFSF12 G>A	17	7460514	7460514	G	A	TNFSF12	c.597G>A	NM_003809.3	NP_003800.1:p.(Ala199=)	NC_000017.10:g.7460514G>A	(Likely) benign	1 lab	9119b5f567
5:171639165 UBTD2 G>A	5	171639165	171639165	G	A	UBTD2	c.374C>T	NM_152277.3	NP_689490.2:p.(Pro125Leu)	NC_000005.9:g.171639165G>A	VUS	1 lab	9119ced518
15:77407395 PEAK1 C>T	15	77407395	77407395	C	T	PEAK1	c.4344G>A	NM_024776.3	NP_079052.2:p.(Gln1448=)	NC_000015.9:g.77407395C>T	(Likely) benign	1 lab	9119f94d77
9:133928352 LAMC3 G>C	9	133928352	133928352	G	C	LAMC3	c.1939G>C	NM_006059.3	NP_006050.3:p.(Gly647Arg)	NC_000009.11:g.133928352G>C	VUS	1 lab	911acbff34
1:154247881 HAX1 C>T	1	154247881	154247881	C	T	HAX1	c.676C>T	NM_006118.3	NP_006109.2:p.(Arg226Cys)	NC_000001.10:g.154247881C>T	VUS	1 lab	911af84aa7
1:27427110 SLC9A1 C>T	1	27427110	27427110	C	T	SLC9A1	c.2136G>A	NM_003047.4	NP_003038.2:p.(Glu712=)	NC_000001.10:g.27427110C>T	(Likely) benign	1 lab	911c18e9a2
11:66475707 SPTBN2 G>A	11	66475707	66475707	G	A	SPTBN2	c.1255C>T	NM_006946.3	NP_008877.1:p.(Arg419Cys)	NC_000011.9:g.66475707G>A	VUS	1 lab	911f18032c
21:45712995 AIRE G>A	21	45712995	45712995	G	A	AIRE				NC_000021.8:g.45712995G>A	(Likely) benign	1 lab	911fdd5a50
2:38302521 CYP1B1 C>G	2	38302521	38302521	C	G	CYP1B1	c.11G>C	NM_000104.3	NP_000095.2:p.(Ser4Thr)	NC_000002.11:g.38302521C>G	(Likely) benign	1 lab	912282b34e
15:28947618 GOLGA8M T>A	15	28947618	28947618	T	A	GOLGA8M	c.1560A>T	NM_001282468.1	NP_001269397.1:p.(Gly520=)	NC_000015.9:g.28947618T>A	VUS	1 lab	91238e50f4
12:80764360 OTOGL C>T	12	80764360	80764360	C	T	OTOGL	c.6599C>T	NM_173591.3	NP_775862.3:p.(Thr2200Ile)	NC_000012.11:g.80764360C>T	(Likely) benign	1 lab	9123f04ece
7:99697682 MCM7 C>A	7	99697682	99697682	C	A	MCM7	c.66G>T	NM_005916.4	NP_005907.3:p.(Gln22His)	NC_000007.13:g.99697682C>A	VUS	1 lab	9125379fa7
21:33064661 SCAF4 C>G	21	33064661	33064661	C	G	SCAF4	c.1614+1G>C	NM_020706.2	NP_065757.1:p.?	NC_000021.8:g.33064661C>G	(Likely) pathogenic	1 lab	91262b19cb
11:67817612 TCIRG1 C>T	11	67817612	67817612	C	T	TCIRG1	c.1233C>T	NM_001351059.1	NP_001337988.1:p.(Pro411=)	NC_000011.9:g.67817612C>T	(Likely) benign	1 lab	9127c3d256
X:133527963 PHF6 A>G	X	133527963	133527963	A	G	PHF6	c.399A>G	NM_032458.2	NP_115834.1:p.(Lys133=)	NC_000023.10:g.133527963A>G	(Likely) benign	1 lab	91286f1951
6:152771768 SYNE1 G>A	6	152771768	152771768	G	A	SYNE1	c.3387C>T	NM_182961.3	NP_892006.3:p.(Tyr1129=)	NC_000006.11:g.152771768G>A	(Likely) benign	1 lab	9129c2183f
17:78178077 CARD14 G>A	17	78178077	78178077	G	A	CARD14	c.2335G>A	NM_024110.4	NP_077015.2:p.(Ala779Thr)	NC_000017.10:g.78178077G>A	(Likely) benign	1 lab	912a87605f
8:61707648 CHD7 TCTC>T	8	61707648	61707659	TCTC	T	CHD7	c.2209_2211del	NM_017780.4	NP_060250.2:p.(Pro737del)	NC_000008.10:g.61707657_61707659del	VUS	1 lab	912d2a180a
6:88299673 RARS2 C>T	6	88299673	88299673	C	T	RARS2	c.3G>A	NM_020320.4	NP_064716.2:p.(Met1?)	NC_000006.11:g.88299673C>T	(Likely) pathogenic	1 lab	912d5eba5e
16:15865499 MYH11 G>A	16	15865499	15865499	G	A	MYH11	c.981C>T	NM_001040113.1	NP_001035202.1:p.(Ala327=)	NC_000016.9:g.15865499G>A	(Likely) benign	1 lab	912e534de2
X:153136512 L1CAM T>G	X	153136512	153136512	T	G	L1CAM	c.523A>C	NM_001278116.1	NP_001265045.1:p.(Lys175Gln)	NC_000023.10:g.153136512T>G	(Likely) benign	1 lab	912efaedef
9:35548205 RUSC2 C>T	9	35548205	35548205	C	T	RUSC2	c.1687C>T	NM_001135999.1	NP_001129471.1:p.(Arg563Cys)	NC_000009.11:g.35548205C>T	VUS	1 lab	913095fcb7
3:43621970 ANO10 C>T	3	43621970	43621970	C	T	ANO10	c.473-6G>A	NM_001204831.2	NP_001191760.1:p.?	NC_000003.11:g.43621970C>T	(Likely) benign	1 lab	9131debb48
X:11316889 AMELX C>T	X	11316889	11316889	C	T	AMELX	c.408C>T	NM_182680.1	NP_872621.1:p.(Pro136=)	NC_000023.10:g.11316889C>T	(Likely) benign	1 lab	9133087245
16:4387504 GLIS2 CA>C	16	4387504	4387507	CA	C	GLIS2	c.1557del	NM_032575.3	NP_115964.2:p.(Lys519AsnfsTer5)	NC_000016.9:g.4387507del	(Likely) pathogenic	1 lab	913382b867
2:142567860 LRP1B A>T	2	142567860	142567860	A	T	LRP1B	c.193T>A	NM_018557.2	NP_061027.2:p.(Ser65Thr)	NC_000002.11:g.142567860A>T	VUS	1 lab	9133ee4a2a
14:53560066 DDHD1 C>G	14	53560066	53560066	C	G	DDHD1	c.1109G>C	NM_001160148.2	NP_001153620.1:p.(Arg370Thr)	NC_000014.8:g.53560066C>G	VUS	1 lab	fda44c18d9
21:46945812 SLC19A1 C>T	21	46945812	46945812	C	T	SLC19A1	c.1212G>A	NM_194255.3	NP_919231.1:p.(Thr404=)	NC_000021.8:g.46945812C>T	(Likely) benign	1 lab	9134a4bd79
11:17631543 OTOG G>A	11	17631543	17631543	G	A	OTOG	c.4732G>A	NM_001277269.1	NP_001264198.1:p.(Glu1578Lys)	NC_000011.9:g.17631543G>A	(Likely) benign	1 lab	913553f4d3
1:164761879 PBX1 G>C	1	164761879	164761879	G	C	PBX1	c.414G>C	NM_002585.3	NP_002576.1:p.(Gly138=)	NC_000001.10:g.164761879G>C	(Likely) benign	1 lab	9136f527d5
5:134364658 PITX1 C>T	5	134364658	134364658	C	T	PITX1	c.756G>A	NM_002653.4	NP_002644.4:p.(Ser252=)	NC_000005.9:g.134364658C>T	(Likely) benign	1 lab	91378a05e6
X:50378637 SHROOM4 G>A	X	50378637	50378637	G	A	SHROOM4	c.436C>T	NM_020717.3	NP_065768.2:p.(Arg146Trp)	NC_000023.10:g.50378637G>A	(Likely) benign	1 lab	9138e716e0
20:34067177 CEP250 C>T	20	34067177	34067177	C	T	CEP250	c.2216C>T	NM_007186.5	NP_009117.2:p.(Ala739Val)	NC_000020.10:g.34067177C>T	VUS	1 lab	9139e4009f
11:62124597 ASRGL1 C>G	11	62124597	62124597	C	G	ASRGL1	c.472C>G	NM_025080.3	NP_079356.3:p.(Gln158Glu)	NC_000011.9:g.62124597C>G	(Likely) benign	1 lab	913a18cbbd
10:48389125 RBP3 G>T	10	48389125	48389125	G	T	RBP3	c.1753C>A	NM_002900.2	NP_002891.1:p.(Pro585Thr)	NC_000010.10:g.48389125G>T	VUS	1 lab	913ab53bc9
3:164714429 SI T>C	3	164714429	164714429	T	C	SI	c.4586A>G	NM_001041.3	NP_001032.2:p.(Asp1529Gly)	NC_000003.11:g.164714429T>C	VUS	1 lab	913d547dc9
14:88904563 SPATA7 G>T	14	88904563	88904563	G	T	SPATA7	c.1597G>T	NM_018418.4	NP_060888.2:p.(Asp533Tyr)	NC_000014.8:g.88904563G>T	VUS	1 lab	913d989fbc
14:76455226 IFT43 A>G	14	76455226	76455226	A	G	IFT43	c.55-2A>G	NM_052873.2	NP_443105.2:p.?	NC_000014.8:g.76455226A>G	VUS	1 lab	addf856400
10:96798747 CYP2C8 C>A	10	96798747	96798747	C	A	CYP2C8	c.988G>T	NM_001198855.1	NP_001185784.1:p.(Glu330Ter)	NC_000010.10:g.96798747C>A	VUS	1 lab	913ebe3591
14:21994214 SALL2 C>T	14	21994214	21994214	C	T	SALL2	c.48G>A	NM_001364564.1	NP_001351493.1:p.(Gly16=)	NC_000014.8:g.21994214C>T	(Likely) benign	1 lab	9140550f0e
11:65293664 SCYL1 G>A	11	65293664	65293664	G	A	SCYL1	c.445G>A	NM_020680.3	NP_065731.3:p.(Val149Met)	NC_000011.9:g.65293664G>A	VUS	1 lab	9140a666ca
17:76134096 TMC8 G>T	17	76134096	76134096	G	T	TMC8	c.1360G>T	NM_152468.5	NP_689681.2:p.(Asp454Tyr)	NC_000017.10:g.76134096G>T	VUS	1 lab	fda4b3ed0c
2:98349684 ZAP70 A>AGCAG	2	98349684	98349690	A	AGCAG	ZAP70	c.790+12_790+15dup	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98349687_98349690dup	(Likely) benign	1 lab	9141475273
6:32826244 PSMB9 G>A	6	32826244	32826244	G	A	PSMB9	c.494G>A	NM_002800.5	NP_002791.1:p.(Gly165Asp)	NC_000006.11:g.32826244G>A	VUS	1 lab	914364c655
3:45533152 LARS2 T>C	3	45533152	45533152	T	C	LARS2	c.1383T>C	NM_015340.4	NP_056155.1:p.(Ile461=)	NC_000003.11:g.45533152T>C	(Likely) benign	1 lab	9144b64662
19:36590340 WDR62 G>A	19	36590340	36590340	G	A	WDR62	c.2560G>A	NM_001083961.1	NP_001077430.1:p.(Ala854Thr)	NC_000019.9:g.36590340G>A	(Likely) benign	1 lab	9144db26f2
X:30326960 NR0B1 C>G	X	30326960	30326960	C	G	NR0B1	c.521G>C	NM_000475.4	NP_000466.2:p.(Arg174Pro)	NC_000023.10:g.30326960C>G	(Likely) benign	1 lab	9146717762
X:67937760 STARD8 G>A	X	67937760	67937760	G	A	STARD8	c.1004G>A	NM_001142503.2	NP_001135975.1:p.(Arg335Gln)	NC_000023.10:g.67937760G>A	(Likely) benign	1 lab	91467ef53e
2:47643504 MSH2 G>C	2	47643504	47643504	G	C	MSH2	c.1012G>C	NM_000251.3	NP_000242.1:p.(Gly338Arg)	NC_000002.11:g.47643504G>C	(Likely) pathogenic	1 lab	fda5443568
21:47860007 PCNT G>A	21	47860007	47860007	G	A	PCNT	c.9285G>A	NM_006031.5	NP_006022.3:p.(Arg3095=)	NC_000021.8:g.47860007G>A	(Likely) benign	1 lab	9149c8cc62
X:38147285 RPGR TTTG>T	X	38147285	38147293	TTTG	T	RPGR	c.1579_1581del	NM_001034853.2	NP_001030025.1:p.(Gln527del)	NC_000023.10:g.38147291_38147293del	VUS	1 lab	914ad51460
17:78087131 GAA G>T	17	78087131	78087131	G	T	GAA	c.2155G>T	NM_000152.3	NP_000143.2:p.(Ala719Ser)	NC_000017.10:g.78087131G>T	VUS	1 lab	914b0a37be
14:68222822 ZFYVE26 G>C	14	68222822	68222822	G	C	ZFYVE26	c.6629C>G	NM_015346.3	NP_056161.2:p.(Pro2210Arg)	NC_000014.8:g.68222822G>C	VUS	1 lab	914ff4410b
15:78401692 CIB2 C>T	15	78401692	78401692	C	T	CIB2	c.231G>A	NM_006383.3	NP_006374.1:p.(Ala77=)	NC_000015.9:g.78401692C>T	(Likely) benign	1 lab	9150fd7d14
2:48033742 MSH6 G>GA	2	48033742	48033746	G	GA	MSH6	c.3957dup	NM_000179.2	NP_000170.1:p.(Ala1320SerfsTer5)	NC_000002.11:g.48033746dup	(Likely) pathogenic	1 lab	91522ad61b
11:113614603 ZW10 G>C	11	113614603	113614603	G	C	ZW10	c.1432C>G	NM_004724.4	NP_004715.1:p.(Arg478Gly)	NC_000011.9:g.113614603G>C	(Likely) benign	1 lab	91529e1dba
X:110035313 CHRDL1 T>TA	X	110035313	110035314	T	TA	CHRDL1	c.94+2dup	NM_001143981.1	NP_001137453.1:p.?	NC_000023.10:g.110035314dup	(Likely) pathogenic	1 lab	9152b551df
7:107572790 LAMB1 G>A	7	107572790	107572790	G	A	LAMB1	c.4221C>T	NM_002291.2	NP_002282.2:p.(Ser1407=)	NC_000007.13:g.107572790G>A	(Likely) benign	1 lab	91547e3201
7:150698349 NOS3 G>A	7	150698349	150698349	G	A	NOS3	c.1264G>A	NM_000603.5	NP_000594.2:p.(Ala422Thr)	NC_000007.13:g.150698349G>A	(Likely) benign	1 lab	fdb2b874d0
12:49446777 KMT2D G>C	12	49446777	49446777	G	C	KMT2D	c.1033C>G	NM_003482.4	NP_003473.3:p.(Leu345Val)	NC_000012.11:g.49446777G>C	(Likely) benign	1 lab	fda6ad944c
16:16255371 ABCC6 G>T	16	16255371	16255371	G	T	ABCC6	c.3557C>A	NM_001171.5	NP_001162.4:p.(Ala1186Asp)	NC_000016.9:g.16255371G>T	VUS	1 lab	91570367ea
16:1639732 IFT140 G>A	16	1639732	1639732	G	A	IFT140	c.684C>T	NM_014714.3	NP_055529.2:p.(Ser228=)	NC_000016.9:g.1639732G>A	(Likely) benign	1 lab	915893a20e
6:161135876 PLG A>G	6	161135876	161135876	A	G	PLG	c.598A>G	NM_000301.3	NP_000292.1:p.(Thr200Ala)	NC_000006.11:g.161135876A>G	VUS	1 lab	9158c8e457
10:54530432 MBL2 G>A	10	54530432	54530432	G	A	MBL2	c.302C>T	NM_000242.2	NP_000233.1:p.(Pro101Leu)	NC_000010.10:g.54530432G>A	(Likely) benign	1 lab	915979100a
4:70460210 UGT2A2 A>T	4	70460210	70460210	A	T	UGT2A2	c.1316T>A	NM_001105677.2	NP_001099147.2:p.(Val439Asp)	NC_000004.11:g.70460210A>T	VUS	1 lab	fdaa6855a0
17:29664451 NF1 TTTGGCATTAGCAAAGTCAAGTCAGCTGC>CTCTGG	17	29664451	29664479	TTTGGCATTAGCAAAGTCAAGTCAGCTGC	CTCTGG	NF1	c.6430_6458delinsCTCTGG	NM_000267.3	NP_000258.1:p.(Phe2144LeufsTer21)	NC_000017.10:g.29664451_29664479delinsCTCTGG	(Likely) pathogenic	1 lab	915a89bfcd
1:165179939 LMX1A C>T	1	165179939	165179939	C	T	LMX1A	c.744G>A	NM_177398.4	NP_796372.1:p.(Ala248=)	NC_000001.10:g.165179939C>T	(Likely) benign	1 lab	915cd9f279
7:56170588 CHCHD2 C>G	7	56170588	56170588	C	G	CHCHD2	c.417G>C	NM_001320327.1	NP_001307256.1:p.(Glu139Asp)	NC_000007.13:g.56170588C>G	VUS	1 lab	915ee241d3
11:119056215 NHERF4 C>T	11	119056215	119056215	C	T	NHERF4	c.12C>T	NM_001168468.2	NP_001161940.1:p.(Ala4=)	NC_000011.9:g.119056215C>T	(Likely) benign	1 lab	915eebeb1c
1:27023140 ARID1A T>TGGC	1	27023140	27023154	T	TGGC	ARID1A	c.258_260dup	NM_006015.6	NP_006006.3:p.(Gly87dup)	NC_000001.10:g.27023152_27023154dup	VUS	1 lab	fdaec720c1
11:103039637 DYNC2H1 C>A	11	103039637	103039637	C	A	DYNC2H1	c.4916C>A	NM_001080463.1	NP_001073932.1:p.(Thr1639Lys)	NC_000011.9:g.103039637C>A	(Likely) benign	1 lab	915ff63b87
13:114549525 GAS6 G>A	13	114549525	114549525	G	A	GAS6	c.318C>T	NM_000820.3	NP_000811.1:p.(Asn106=)	NC_000013.10:g.114549525G>A	(Likely) benign	1 lab	9160618d80
7:99797240 STAG3 G>A	7	99797240	99797240	G	A	STAG3	c.1650G>A	NM_001282717.1	NP_001269646.1:p.(Pro550=)	NC_000007.13:g.99797240G>A	(Likely) benign	1 lab	9160999e9c
X:154157629 F8 C>T	X	154157629	154157629	C	T	F8	c.4436G>A	NM_000132.3	NP_000123.1:p.(Gly1479Asp)	NC_000023.10:g.154157629C>T	(Likely) benign	1 lab	9161f24168
10:21112221 NEBL G>A	10	21112221	21112221	G	A	NEBL	c.1878C>T	NM_006393.2	NP_006384.1:p.(Tyr626=)	NC_000010.10:g.21112221G>A	(Likely) benign	1 lab	9163357b5f
3:65365132 MAGI1 G>T	3	65365132	65365132	G	T	MAGI1	c.2883C>A	NM_015520.1	NP_056335.1:p.(Gly961=)	NC_000003.11:g.65365132G>T	(Likely) benign	1 lab	91665cfc55
10:28233275 ODAD2 A>G	10	28233275	28233275	A	G	ODAD2	c.1619T>C	NM_001290020.1	NP_001276949.1:p.(Met540Thr)	NC_000010.10:g.28233275A>G	VUS	1 lab	91685aa8b2
X:106082593 TBC1D8B T>C	X	106082593	106082593	T	C	TBC1D8B	c.1259T>C	NM_017752.2	NP_060222.2:p.(Leu420Ser)	NC_000023.10:g.106082593T>C	(Likely) benign	1 lab	9168a74791
16:2138275 TSC2 C>A	16	2138275	2138275	C	A	TSC2	c.5208C>A	NM_000548.3	NP_000539.2:p.(Tyr1736Ter)	NC_000016.9:g.2138275C>A	(Likely) pathogenic	1 lab	9168b53d5f
9:135786927 TSC1 C>T	9	135786927	135786927	C	T	TSC1	c.942G>A	NM_000368.4	NP_000359.1:p.(Thr314=)	NC_000009.11:g.135786927C>T	(Likely) benign	1 lab	91694ee2d6
5:73981343 HEXB G>A	5	73981343	73981343	G	A	HEXB	c.258G>A	NM_000521.4	NP_000512.2:p.(Thr86=)	NC_000005.9:g.73981343G>A	(Likely) benign	1 lab	fdb6e58309
17:35627755 ACACA T>G	17	35627755	35627755	T	G	ACACA	c.898-3A>C	NM_198839.2	NP_942136.1:p.?	NC_000017.10:g.35627755T>G	(Likely) benign	1 lab	9169d61f1a
X:18668599 CDKL5 G>A	X	18668599	18668599	G	A	CDKL5	c.2867G>A	NM_003159.2	NP_003150.1:p.(Arg956His)	NC_000023.10:g.18668599G>A	(Likely) benign	1 lab	9177f3cffa
19:18271304 PIK3R2 G>A	19	18271304	18271304	G	A	PIK3R2	c.346G>A	NM_005027.4	NP_005018.2:p.(Glu116Lys)	NC_000019.9:g.18271304G>A	VUS	1 lab	fdb755febf
12:108923950 SART3 A>G	12	108923950	108923950	A	G	SART3	c.1884T>C	NM_014706.4	NP_055521.1:p.(Asp628=)	NC_000012.11:g.108923950A>G	(Likely) benign	1 lab	fdbbe88466
4:100575489 C4orf54 C>T	4	100575489	100575489	C	T	C4orf54	c.317G>A	NM_001354435.1	NP_001341364.1:p.(Arg106His)	NC_000004.11:g.100575489C>T	VUS	1 lab	916c52a9ca
9:136401932 ADAMTSL2 G>C	9	136401932	136401932	G	C	ADAMTSL2	c.90+8G>C	NM_001145320.1	NP_001138792.1:p.?	NC_000009.11:g.136401932G>C	(Likely) benign	1 lab	916c86cd47
2:136610399 MCM6 A>G	2	136610399	136610399	A	G	MCM6	c.1713T>C	NM_005915.5	NP_005906.2:p.(Asp571=)	NC_000002.11:g.136610399A>G	(Likely) benign	1 lab	916da99286
18:7010234 LAMA1 C>T	18	7010234	7010234	C	T	LAMA1	c.3838G>A	NM_005559.3	NP_005550.2:p.(Gly1280Arg)	NC_000018.9:g.7010234C>T	VUS	1 lab	916f0383c4
17:3433381 TRPV3 G>A	17	3433381	3433381	G	A	TRPV3	c.1182C>T	NM_001258205.1	NP_001245134.1:p.(Asn394=)	NC_000017.10:g.3433381G>A	(Likely) benign	1 lab	9170257222
12:56090795 ITGA7 C>T	12	56090795	56090795	C	T	ITGA7	c.1637G>A	NM_001144996.1	NP_001138468.1:p.(Arg546His)	NC_000012.11:g.56090795C>T	VUS	1 lab	9170b0ae25
19:13409458 CACNA1A C>T	19	13409458	13409458	C	T	CACNA1A	c.3001G>A	NM_023035.2	NP_075461.2:p.(Asp1001Asn)	NC_000019.9:g.13409458C>T	VUS	1 lab	9171f88972
1:103471456 COL11A1 C>CCAT	1	103471456	103471488	C	CCAT	COL11A1	c.1828-12_1828-10dup	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103471486_103471488dup	(Likely) benign	1 lab	9173c9b1ec
2:32353548 SPAST C>T	2	32353548	32353548	C	T	SPAST	c.1245C>T	NM_014946.3	NP_055761.2:p.(Tyr415=)	NC_000002.11:g.32353548C>T	(Likely) benign	1 lab	91770f9db8
3:38655483 SCN5A G>A	3	38655483	38655483	G	A	SCN5A	c.686C>T	NM_001099404.1	NP_001092874.1:p.(Thr229Ile)	NC_000003.11:g.38655483G>A	VUS	1 lab	91774be9a9
1:150779165 CTSK G>A	1	150779165	150779165	G	A	CTSK	c.117C>T	NM_000396.3	NP_000387.1:p.(Asn39=)	NC_000001.10:g.150779165G>A	(Likely) benign	1 lab	9177db123f
17:61899394 FTSJ3 T>C	17	61899394	61899394	T	C	FTSJ3	c.1425A>G	NM_017647.4	NP_060117.3:p.(Pro475=)	NC_000017.10:g.61899394T>C	(Likely) benign	1 lab	9179a2ac90
13:23929779 SACS G>T	13	23929779	23929779	G	T	SACS	c.972C>A	NM_014363.5	NP_055178.3:p.(Asp324Glu)	NC_000013.10:g.23929779G>T	VUS	1 lab	917ae8ef5b
X:54957649 TRO T>C	X	54957649	54957649	T	C	TRO	c.1999T>C	NM_016157.3	NP_057241.2:p.(Cys667Arg)	NC_000023.10:g.54957649T>C	(Likely) benign	1 lab	917b30c9b4
17:29677279 NF1 C>G	17	29677279	29677279	C	G	NF1	c.7337C>G	NM_000267.3	NP_000258.1:p.(Ser2446Ter)	NC_000017.10:g.29677279C>G	(Likely) pathogenic	1 lab	917da61f8b
4:183714050 TENM3 G>A	4	183714050	183714050	G	A	TENM3	c.6225G>A	NM_001080477.3	NP_001073946.1:p.(Met2075Ile)	NC_000004.11:g.183714050G>A	VUS	1 lab	917e6e3b41
17:29665159 NF1 T>C	17	29665159	29665159	T	C	NF1	c.6756+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665159T>C	(Likely) pathogenic	1 lab	917eb4058b
5:179260579 SQSTM1 T>C	5	179260579	179260579	T	C	SQSTM1	c.970-8T>C	NM_003900.5	NP_003891.1:p.?	NC_000005.9:g.179260579T>C	(Likely) benign	1 lab	9183e66682
X:128674432 OCRL C>G	X	128674432	128674432	C	G	OCRL	c.16C>G	NM_001318784.1	NP_001305713.1:p.(Pro6Ala)	NC_000023.10:g.128674432C>G	VUS	1 lab	918633c975
1:172525158 SUCO G>A	1	172525158	172525158	G	A	SUCO	c.912G>A	NM_016227.3	NP_057311.3:p.(Lys304=)	NC_000001.10:g.172525158G>A	(Likely) benign	1 lab	9188a655a2
13:110819495 COL4A1 G>A	13	110819495	110819495	G	A	COL4A1	c.3949+10C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110819495G>A	(Likely) benign	1 lab	9189876985
19:45206950 CEACAM16 C>T	19	45206950	45206950	C	T	CEACAM16	c.369C>T	NM_001039213.4	NP_001034302.2:p.(His123=)	NC_000019.9:g.45206950C>T	(Likely) benign	1 lab	918ad480b1
2:198257795 SF3B1 T>C	2	198257795	198257795	T	C	SF3B1	c.3657A>G	NM_012433.4	NP_036565.2:p.(Val1219=)	NC_000002.11:g.198257795T>C	(Likely) benign	1 lab	fdbd170b2e
22:36722645 MYH9 C>T	22	36722645	36722645	C	T	MYH9	c.580G>A	NM_002473.5	NP_002464.1:p.(Val194Met)	NC_000022.10:g.36722645C>T	VUS	1 lab	918d357dc0
12:105464407 ALDH1L2 G>A	12	105464407	105464407	G	A	ALDH1L2	c.369C>T	NM_001034173.3	NP_001029345.2:p.(Gly123=)	NC_000012.11:g.105464407G>A	(Likely) benign	1 lab	918de01cde
2:214161999 SPAG16 A>G	2	214161999	214161999	A	G	SPAG16	c.197A>G	NM_024532.5	NP_078808.3:p.(Asn66Ser)	NC_000002.11:g.214161999A>G	VUS	1 lab	918e932cb6
6:43230613 TTBK1 C>A	6	43230613	43230613	C	A	TTBK1	c.1511C>A	NM_032538.2	NP_115927.1:p.(Ala504Asp)	NC_000006.11:g.43230613C>A	VUS	1 lab	918f0a7fc8
9:135206774 SETX A>G	9	135206774	135206774	A	G	SETX	c.900T>C	NM_001351527.1	NP_001338456.1:p.(Leu300=)	NC_000009.11:g.135206774A>G	(Likely) benign	1 lab	919319c24d
6:152655143 SYNE1 C>T	6	152655143	152655143	C	T	SYNE1	c.12794G>A	NM_182961.4	NP_892006.3:p.(Arg4265Lys)	NC_000006.11:g.152655143C>T	(Likely) pathogenic	1 lab	fdbda21e04
16:2129591 TSC2 G>A	16	2129591	2129591	G	A	TSC2	c.3318G>A	NM_000548.3	NP_000539.2:p.(Lys1106=)	NC_000016.9:g.2129591G>A	(Likely) benign	1 lab	919720b73c
5:67589182 PIK3R1 T>C	5	67589182	67589182	T	C	PIK3R1	c.1170T>C	NM_181523.2	NP_852664.1:p.(Tyr390=)	NC_000005.9:g.67589182T>C	(Likely) benign	1 lab	9197b190ae
2:47177555 TTC7A G>T	2	47177555	47177555	G	T	TTC7A	c.238G>T	NM_001288951.1	NP_001275880.1:p.(Glu80Ter)	NC_000002.11:g.47177555G>T	(Likely) pathogenic	1 lab	9197d6f9c1
9:140772448 CACNA1B C>T	9	140772448	140772448	C	T	CACNA1B	c.63C>T	NM_000718.3	NP_000709.1:p.(Ala21=)	NC_000009.11:g.140772448C>T	(Likely) benign	1 lab	91987aa081
11:128933903 ARHGAP32 T>C	11	128933903	128933903	T	C	ARHGAP32	c.737A>G	NM_001142685.1	NP_001136157.1:p.(Asn246Ser)	NC_000011.9:g.128933903T>C	VUS	1 lab	9198de821d
21:46925108 COL18A1 G>A	21	46925108	46925108	G	A	COL18A1	c.4165G>A	NM_130444.3	NP_569711.2:p.(Gly1389Ser)	NC_000021.8:g.46925108G>A	VUS	1 lab	919b8998dc
2:170066158 LRP2 G>T	2	170066158	170066158	G	T	LRP2	c.6281-7C>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170066158G>T	(Likely) benign	1 lab	919c35dc12
4:126373306 FAT4 G>C	4	126373306	126373306	G	C	FAT4	c.11135G>C	NM_024582.4	NP_078858.4:p.(Ser3712Thr)	NC_000004.11:g.126373306G>C	VUS	1 lab	919d94d168
20:17474720 BFSP1 TAA>T	20	17474720	17474722	TAA	T	BFSP1	c.1995_1996del	NM_001195.5	NP_001186.1:p.(Ter666LysextTer7)	NC_000020.10:g.17474721_17474722del	VUS	1 lab	919daf6dae
19:45206677 CEACAM16 C>T	19	45206677	45206677	C	T	CEACAM16	c.96C>T	NM_001039213.4	NP_001034302.2:p.(Ser32=)	NC_000019.9:g.45206677C>T	(Likely) benign	1 lab	919f9071dd
9:27180251 TEK T>G	9	27180251	27180251	T	G	TEK	c.915T>G	NM_000459.4	NP_000450.2:p.(Gly305=)	NC_000009.11:g.27180251T>G	(Likely) benign	1 lab	91a2a83c01
17:29670063 NF1 C>T	17	29670063	29670063	C	T	NF1	c.7036C>T	NM_000267.3	NP_000258.1:p.(Leu2346=)	NC_000017.10:g.29670063C>T	(Likely) benign	1 lab	91a3505b0f
10:104160575 NFKB2 C>T	10	104160575	104160575	C	T	NFKB2	c.1962C>T	NM_001288724.1	NP_001275653.1:p.(Val654=)	NC_000010.10:g.104160575C>T	(Likely) benign	1 lab	91a3e405f7
15:23931868 NDN G>T	15	23931868	23931868	G	T	NDN	c.497C>A	NM_002487.2	NP_002478.1:p.(Ala166Glu)	NC_000015.9:g.23931868G>T	(Likely) benign	1 lab	91a779c0ed
1:53676630 CPT2 A>T	1	53676630	53676630	A	T	CPT2	c.1284A>T	NM_000098.2	NP_000089.1:p.(Thr428=)	NC_000001.10:g.53676630A>T	(Likely) benign	1 lab	91ab47375e
7:98987625 ARPC1B T>TCC	7	98987625	98987626	T	TCC	ARPC1B	c.490_491insCC	NM_005720.4	NP_005711.1:p.(Phe164SerfsTer32)	NC_000007.13:g.98987625_98987626insCC	(Likely) pathogenic	1 lab	91ac327a15
2:210685343 UNC80 AGGAGGAGGT>A	2	210685343	210685366	AGGAGGAGGT	A	UNC80	c.2286_2294del	NM_001371986.1	NP_001358915.1:p.(Gly764_Gly766del)	NC_000002.11:g.210685358_210685366del	VUS	1 lab	91af508b85
7:108113027 PNPLA8 G>A	7	108113027	108113027	G	A	PNPLA8	c.2167C>T	NM_015723.4	NP_056538.1:p.(Arg723Ter)	NC_000007.13:g.108113027G>A	VUS	1 lab	91b0a0d640
5:131657904 SLC22A4 G>A	5	131657904	131657904	G	A	SLC22A4	c.680G>A	NM_003059.3	NP_003050.2:p.(Arg227His)	NC_000005.9:g.131657904G>A	VUS	1 lab	91b245d666
X:154528464 CLIC2 A>C	X	154528464	154528464	A	C	CLIC2	c.58-6T>G	NM_001289.5	NP_001280.3:p.?	NC_000023.10:g.154528464A>C	(Likely) benign	1 lab	91b2d127c8
X:154157732 F8 A>G	X	154157732	154157732	A	G	F8	c.4333T>C	NM_000132.3	NP_000123.1:p.(Ser1445Pro)	NC_000023.10:g.154157732A>G	(Likely) benign	1 lab	91b3e7d3ee
10:97423979 TCTN3 T>C	10	97423979	97423979	T	C	TCTN3	c.1669A>G	NM_015631.5	NP_056446.4:p.(Arg557Gly)	NC_000010.10:g.97423979T>C	VUS	1 lab	91b491aad8
X:9707566 GPR143 C>T	X	9707566	9707566	C	T	GPR143	c.1079G>A	NM_000273.2	NP_000264.2:p.(Gly360Asp)	NC_000023.10:g.9707566C>T	(Likely) benign	1 lab	91b5a6cb6e
11:9200555 DENND5A G>A	11	9200555	9200555	G	A	DENND5A	c.1521C>T	NM_015213.3	NP_056028.2:p.(Leu507=)	NC_000011.9:g.9200555G>A	(Likely) benign	1 lab	91b68ec8ac
X:107420217 COL4A6 C>T	X	107420217	107420217	C	T	COL4A6	c.2591G>A	NM_001287758.1	NP_001274687.1:p.(Arg864Lys)	NC_000023.10:g.107420217C>T	(Likely) benign	1 lab	91b76bd091
3:15676984 BTD GCGGCTG>TCC	3	15676984	15676990	GCGGCTG	TCC	BTD	c.98_104delinsTCC	NM_000060.4	NP_000051.1:p.(Cys33PhefsTer36)	NC_000003.11:g.15676984_15676990delinsTCC	(Likely) pathogenic	1 lab	91b7a421ee
17:1554221 PRPF8 C>T	17	1554221	1554221	C	T	PRPF8	c.6883G>A	NM_006445.3	NP_006436.3:p.(Glu2295Lys)	NC_000017.10:g.1554221C>T	VUS	1 lab	91b8445d09
19:3982967 EEF2 G>A	19	3982967	3982967	G	A	EEF2	c.450C>T	NM_001961.3	NP_001952.1:p.(Arg150=)	NC_000019.9:g.3982967G>A	(Likely) benign	1 lab	c0a5380224
1:155319379 MISSING G>A	1	155319379	155319379	G	A	MISSING				NC_000001.10:g.155319379G>A	VUS	1 lab	91b9056e44
16:88502744 ZNF469 C>A	16	88502744	88502744	C	A	ZNF469				NC_000016.9:g.88502744C>A	VUS	1 lab	91b991f8b8
X:88009025 CPXCR1 T>A	X	88009025	88009025	T	A	CPXCR1	c.610T>A	NM_033048.5	NP_149037.4:p.(Tyr204Asn)	NC_000023.10:g.88009025T>A	VUS	1 lab	91bb00aa64
16:50810094 CYLD TG>T	16	50810094	50810095	TG	T	CYLD	c.928del	NM_001378743.1	NP_001365672.1:p.(Val310Ter)	NC_000016.9:g.50810095del	(Likely) pathogenic	1 lab	91bb590018
9:35704179 TLN1 A>C	9	35704179	35704179	A	C	TLN1	c.6048-8T>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35704179A>C	(Likely) benign	1 lab	afe02684fd
16:2354139 ABCA3 T>C	16	2354139	2354139	T	C	ABCA3	c.1298A>G	NM_001089.2	NP_001080.2:p.(Gln433Arg)	NC_000016.9:g.2354139T>C	VUS	1 lab	91bc508b9f
X:12905477 TLR7 A>C	X	12905477	12905477	A	C	TLR7	c.1850A>C	NM_016562.3	NP_057646.1:p.(Glu617Ala)	NC_000023.10:g.12905477A>C	(Likely) benign	1 lab	91bce09aab
14:64608693 SYNE2 A>G	14	64608693	64608693	A	G	SYNE2	c.15193A>G	NM_182914.2	NP_878918.2:p.(Ile5065Val)	NC_000014.8:g.64608693A>G	(Likely) benign	1 lab	91bd1aa753
9:123782342 C5 T>C	9	123782342	123782342	T	C	C5	c.1436A>G	NM_001317163.1	NP_001304092.1:p.(His479Arg)	NC_000009.11:g.123782342T>C	VUS	1 lab	91bf83c30d
14:91763711 CCDC88C C>T	14	91763711	91763711	C	T	CCDC88C	c.3904G>A	NM_001080414.3	NP_001073883.2:p.(Glu1302Lys)	NC_000014.8:g.91763711C>T	(Likely) benign	1 lab	91c169e968
16:2114372 TSC2 C>T	16	2114372	2114372	C	T	TSC2	c.1543C>T	NM_000548.3	NP_000539.2:p.(Leu515=)	NC_000016.9:g.2114372C>T	(Likely) benign	1 lab	91c2119645
X:106843984 FRMPD3 C>T	X	106843984	106843984	C	T	FRMPD3	c.2814C>T	NM_032428.2	NP_115804.1:p.(His938=)	NC_000023.10:g.106843984C>T	(Likely) benign	1 lab	91c26212a5
12:121078811 CABP1 C>T	12	121078811	121078811	C	T	CABP1	c.323C>T	NM_001033677.1	NP_001028849.1:p.(Thr108Met)	NC_000012.11:g.121078811C>T	(Likely) benign	1 lab	91c2756ad9
17:29486068 NF1 C>T	17	29486068	29486068	C	T	NF1	c.245C>T	NM_000267.3	NP_000258.1:p.(Ser82Phe)	NC_000017.10:g.29486068C>T	(Likely) pathogenic	1 lab	91c3297ee1
X:99662742 PCDH19 G>T	X	99662742	99662742	G	T	PCDH19	c.854C>A	NM_001184880.1	NP_001171809.1:p.(Thr285Lys)	NC_000023.10:g.99662742G>T	VUS	1 lab	91c4e4263c
4:76927406 CXCL9 C>A	4	76927406	76927406	C	A	CXCL9	c.86G>T	NM_002416.2	NP_002407.1:p.(Gly29Val)	NC_000004.11:g.76927406C>A	VUS	1 lab	91c5140bd9
11:78775924 TENM4 C>T	11	78775924	78775924	C	T	TENM4	c.352G>A	NM_001098816.2	NP_001092286.2:p.(Glu118Lys)	NC_000011.9:g.78775924C>T	VUS	1 lab	91c605bf25
2:198358171 HSPD1 T>C	2	198358171	198358171	T	C	HSPD1	c.746A>G	NM_002156.5	NP_002147.2:p.(Lys249Arg)	NC_000002.11:g.198358171T>C	VUS	1 lab	fdc44e2474
9:35079467 FANCG T>C	9	35079467	35079467	T	C	FANCG	c.55A>G	NM_004629.1	NP_004620.1:p.(Lys19Glu)	NC_000009.11:g.35079467T>C	(Likely) benign	1 lab	91c9463f34
X:100912523 ARMCX2 C>A	X	100912523	100912523	C	A	ARMCX2	c.52G>T	NM_177949.3	NP_808818.1:p.(Ala18Ser)	NC_000023.10:g.100912523C>A	(Likely) benign	1 lab	91c9facbbc
9:125622233 RC3H2 A>G	9	125622233	125622233	A	G	RC3H2	c.1812T>C	NM_001100588.3	NP_001094058.1:p.(Thr604=)	NC_000009.11:g.125622233A>G	(Likely) benign	1 lab	91cb59f4f5
11:121495911 SORL1 G>A	11	121495911	121495911	G	A	SORL1	c.6289G>A	NM_003105.5	NP_003096.1:p.(Val2097Ile)	NC_000011.9:g.121495911G>A	VUS	1 lab	91cbcd82e3
6:152679559 SYNE1 T>A	6	152679559	152679559	T	A	SYNE1	c.10557A>T	NM_182961.3	NP_892006.3:p.(Ser3519=)	NC_000006.11:g.152679559T>A	(Likely) benign	1 lab	91cbf872e1
19:45683153 BLOC1S3 C>T	19	45683153	45683153	C	T	BLOC1S3	c.599C>T	NM_212550.4	NP_997715.1:p.(Pro200Leu)	NC_000019.9:g.45683153C>T	VUS	1 lab	91cd31189b
2:179433702 TTN C>G	2	179433702	179433702	C	G	TTN	c.77157G>C	NM_001267550.1	NP_001254479.1:p.(Trp25719Cys)	NC_000002.11:g.179433702C>G	VUS	1 lab	91d0428f15
7:103234458 RELN AT>A	7	103234458	103234467	AT	A	RELN	c.3712-130del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103234467del	(Likely) benign	1 lab	91d04fda90
18:50432493 DCC T>A	18	50432493	50432493	T	A	DCC	c.492T>A	NM_005215.3	NP_005206.2:p.(Ile164=)	NC_000018.9:g.50432493T>A	(Likely) benign	1 lab	91d351cf77
19:45317499 BCAM G>A	19	45317499	45317499	G	A	BCAM	c.875G>A	NM_005581.5	NP_005572.2:p.(Arg292Gln)	NC_000019.9:g.45317499G>A	VUS	1 lab	fdc46831e4
X:138619188 F9 C>T	X	138619188	138619188	C	T	F9	c.108C>T	NM_000133.3	NP_000124.1:p.(Asn36=)	NC_000023.10:g.138619188C>T	(Likely) benign	1 lab	91d93755ae
19:50905546 POLD1 G>A	19	50905546	50905546	G	A	POLD1	c.674G>A	NM_001308632.1	NP_001295561.1:p.(Arg225His)	NC_000019.9:g.50905546G>A	VUS	1 lab	91da7a0e99
10:68979543 CTNNA3 C>A	10	68979543	68979543	C	A	CTNNA3	c.665G>T	NM_013266.4	NP_037398.2:p.(Cys222Phe)	NC_000010.10:g.68979543C>A	VUS	1 lab	fdc47a9d59
1:11850928 MTHFR G>A	1	11850928	11850928	G	A	MTHFR	c.1780C>T	NM_005957.4	NP_005948.3:p.(Arg594Trp)	NC_000001.10:g.11850928G>A	VUS	1 lab	91dcc53599
X:89177142 TGIF2LX C>T	X	89177142	89177142	C	T	TGIF2LX	c.58C>T	NM_138960.3	NP_620410.3:p.(Pro20Ser)	NC_000023.10:g.89177142C>T	(Likely) benign	1 lab	91dd6134ce
11:133790879 MISSING G>A	11	133790879	133790879	G	A	MISSING				NC_000011.9:g.133790879G>A	VUS	1 lab	91dd869e06
12:80862533 MISSING G>A	12	80862533	80862533	G	A	MISSING				NC_000012.11:g.80862533G>A	VUS	1 lab	91ddabcba2
2:179664352 TTN G>A	2	179664352	179664352	G	A	TTN	c.776C>T	NM_001267550.1	NP_001254479.1:p.(Pro259Leu)	NC_000002.11:g.179664352G>A	VUS	1 lab	91dea4156a
14:45645514 FANCM A>G	14	45645514	45645514	A	G	FANCM	c.3557A>G	NM_020937.2	NP_065988.1:p.(Asn1186Ser)	NC_000014.8:g.45645514A>G	(Likely) benign	1 lab	91decd8320
X:66937446 AR CT>C	X	66937446	66937447	CT	C	AR	c.2301del	NM_000044.6	NP_000035.2:p.(Asp768IlefsTer21)	NC_000023.10:g.66937447del	(Likely) pathogenic	1 lab	91df4f90a2
22:18609660 TUBA8 C>T	22	18609660	18609660	C	T	TUBA8	c.915C>T	NM_018943.2	NP_061816.1:p.(Cys305=)	NC_000022.10:g.18609660C>T	(Likely) benign	1 lab	91e131f5e0
3:25636151 RARB C>T	3	25636151	25636151	C	T	RARB	c.1153C>T	NM_001290216.2	NP_001277145.1:p.(Arg385Cys)	NC_000003.11:g.25636151C>T	VUS	1 lab	91e250b93e
1:3328375 PRDM16 C>A	1	3328375	3328375	C	A	PRDM16	c.1614C>A	NM_022114.4	NP_071397.3:p.(Pro538=)	NC_000001.10:g.3328375C>A	(Likely) benign	1 lab	fdc7427b74
10:88414570 OPN4 G>C	10	88414570	88414570	G	C	OPN4	c.30G>C	NM_001030015.2	NP_001025186.1:p.(Pro10=)	NC_000010.10:g.88414570G>C	(Likely) benign	1 lab	91e2a3704c
16:3640577 SLX4 C>G	16	3640577	3640577	C	G	SLX4	c.3062G>C	NM_032444.2	NP_115820.2:p.(Arg1021Pro)	NC_000016.9:g.3640577C>G	(Likely) benign	1 lab	91e3242641
X:151366151 GABRA3 C>T	X	151366151	151366151	C	T	GABRA3	c.885G>A	NM_000808.4	NP_000799.1:p.(Val295=)	NC_000023.10:g.151366151C>T	(Likely) benign	1 lab	fdd0d627e0
X:106890933 PRPS1 G>A	X	106890933	106890933	G	A	PRPS1	c.802G>A	NM_002764.4	NP_002755.1:p.(Ala268Thr)	NC_000023.10:g.106890933G>A	VUS	1 lab	fdd251f200
X:6069437 NLGN4X T>C	X	6069437	6069437	T	C	NLGN4X	c.71A>G	NM_001282145.1	NP_001269074.1:p.(Asn24Ser)	NC_000023.10:g.6069437T>C	(Likely) benign	1 lab	91e5bde383
6:152841659 SYNE1 G>A	6	152841659	152841659	G	A	SYNE1	c.244C>T	NM_182961.3	NP_892006.3:p.(Arg82Trp)	NC_000006.11:g.152841659G>A	VUS	1 lab	91e71bc151
1:159772230 FCRL6 G>C	1	159772230	159772230	G	C	FCRL6	c.37G>C	NM_001284217.1	NP_001271146.1:p.(Ala13Pro)	NC_000001.10:g.159772230G>C	(Likely) benign	1 lab	91e7895c1c
X:53579848 HUWE1 A>G	X	53579848	53579848	A	G	HUWE1	c.8501T>C	NM_031407.6	NP_113584.3:p.(Leu2834Pro)	NC_000023.10:g.53579848A>G	VUS	1 lab	91e7fcbec7
7:73477666 ELN G>A	7	73477666	73477666	G	A	ELN	c.1885G>A	NM_000501.3	NP_000492.2:p.(Ala629Thr)	NC_000007.13:g.73477666G>A	VUS	1 lab	91e8fddbbf
9:131765218 NUP188 G>A	9	131765218	131765218	G	A	NUP188	c.4260G>A	NM_015354.2	NP_056169.1:p.(Leu1420=)	NC_000009.11:g.131765218G>A	(Likely) benign	1 lab	91e98703bc
4:109766353 COL25A1 C>G	4	109766353	109766353	C	G	COL25A1	c.1570G>C	NM_198721.3	NP_942014.1:p.(Gly524Arg)	NC_000004.11:g.109766353C>G	VUS	1 lab	91e99a3ffa
15:38545438 SPRED1 C>T	15	38545438	38545438	C	T	SPRED1	c.32+20C>T	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38545438C>T	(Likely) benign	1 lab	91ea155099
16:11012300 CIITA G>A	16	11012300	11012300	G	A	CIITA	c.3069G>A	NM_001286402.1	NP_001273331.1:p.(Leu1023=)	NC_000016.9:g.11012300G>A	(Likely) benign	1 lab	91ec2b241f
X:54263878 WNK3 T>C	X	54263878	54263878	T	C	WNK3	c.4121A>G	NM_020922.4	NP_065973.2:p.(Lys1374Arg)	NC_000023.10:g.54263878T>C	(Likely) benign	1 lab	91ec3ae7ed
15:80855427 ARNT2 A>G	15	80855427	80855427	A	G	ARNT2	c.1165-2A>G	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80855427A>G	(Likely) pathogenic	1 lab	91ed4925de
7:34009955 BMPER A>T	7	34009955	34009955	A	T	BMPER	c.417A>T	NM_133468.5	NP_597725.1:p.(Thr139=)	NC_000007.13:g.34009955A>T	(Likely) benign	1 lab	91ed80cbc9
2:220473114 STK11IP A>G	2	220473114	220473114	A	G	STK11IP	c.1565A>G	NM_052902.4	NP_443134.3:p.(Glu522Gly)	NC_000002.11:g.220473114A>G	(Likely) benign	1 lab	91ed894a02
14:92471342 TRIP11 A>G	14	92471342	92471342	A	G	TRIP11	c.2978T>C	NM_004239.4	NP_004230.2:p.(Ile993Thr)	NC_000014.8:g.92471342A>G	VUS	1 lab	91f19eadb2
6:106967967 CRYBG1 C>T	6	106967967	106967967	C	T	CRYBG1	c.1660C>T	NM_001624.3	NP_001615.2:p.(Leu554Phe)	NC_000006.11:g.106967967C>T	VUS	1 lab	91f2181f0a
11:106579304 GUCY1A2 G>A	11	106579304	106579304	G	A	GUCY1A2	c.2018C>T	NM_001256424.1	NP_001243353.1:p.(Thr673Ile)	NC_000011.9:g.106579304G>A	VUS	1 lab	91f2b0f63e
3:10191621 VHL G>A	3	10191621	10191621	G	A	VHL	c.614G>A	NM_000551.3	NP_000542.1:p.(Arg205His)	NC_000003.11:g.10191621G>A	(Likely) benign	1 lab	91f2eac428
7:21939024 DNAH11 G>A	7	21939024	21939024	G	A	DNAH11				NC_000007.13:g.21939024G>A	VUS	1 lab	91f4961265
19:54649680 CNOT3 C>T	19	54649680	54649680	C	T	CNOT3	c.738C>T	NM_014516.4	NP_055331.1:p.(His246=)	NC_000019.9:g.54649680C>T	(Likely) benign	1 lab	91f6789537
10:48390388 RBP3 C>A	10	48390388	48390388	C	A	RBP3	c.490G>T	NM_002900.2	NP_002891.1:p.(Ala164Ser)	NC_000010.10:g.48390388C>A	VUS	1 lab	91f67b628c
X:44923066 KDM6A A>G	X	44923066	44923066	A	G	KDM6A	c.2079+4A>G	NM_001291415.1	NP_001278344.1:p.?	NC_000023.10:g.44923066A>G	VUS	1 lab	91f7f827f4
17:76128039 TMC8 C>T	17	76128039	76128039	C	T	TMC8	c.226C>T	NM_152468.4	NP_689681.2:p.(Arg76Cys)	NC_000017.10:g.76128039C>T	VUS	1 lab	91f8d74437
18:6982598 LAMA1 C>T	18	6982598	6982598	C	T	LAMA1	c.5797-9G>A	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6982598C>T	(Likely) benign	1 lab	91fc3ab656
7:100638631 MUC12 C>T	7	100638631	100638631	C	T	MUC12	c.4787C>T	NM_001164462.1	NP_001157934.1:p.(Thr1596Ile)	NC_000007.13:g.100638631C>T	(Likely) benign	1 lab	91fc494912
X:153581386 FLNA A>G	X	153581386	153581386	A	G	FLNA	c.6209T>C	NM_001110556.2	NP_001104026.1:p.(Ile2070Thr)	NC_000023.10:g.153581386A>G	VUS	1 lab	91fcdb6a35
11:117860304 IL10RA C>T	11	117860304	117860304	C	T	IL10RA	c.336C>T	NM_001558.3	NP_001549.2:p.(Thr112=)	NC_000011.9:g.117860304C>T	(Likely) benign	1 lab	91fcfe09fe
16:30977132 SETD1A CCT>C	16	30977132	30977134	CCT	C	SETD1A	c.1931_1932del	NM_014712.3	NP_055527.1:p.(Pro644ArgfsTer14)	NC_000016.9:g.30977133_30977134del	(Likely) pathogenic	1 lab	91ffa8f7c5
15:28460782 HERC2 G>A	15	28460782	28460782	G	A	HERC2	c.6195C>T	NM_004667.5	NP_004658.3:p.(Thr2065=)	NC_000015.9:g.28460782G>A	(Likely) benign	1 lab	91fff292bc
X:153229711 HCFC1 G>A	X	153229711	153229711	G	A	HCFC1	c.367C>T	NM_005334.2	NP_005325.2:p.(Leu123Phe)	NC_000023.10:g.153229711G>A	VUS	1 lab	9201659158
19:50823959 KCNC3 C>A	19	50823959	50823959	C	A	KCNC3	c.2061G>T	NM_004977.2	NP_004968.2:p.(Pro687=)	NC_000019.9:g.50823959C>A	(Likely) benign	1 lab	9201cc1c2c
10:112667546 BBIP1 G>A	10	112667546	112667546	G	A	BBIP1	c.86C>T	NM_001195304.1	NP_001182233.1:p.(Thr29Ile)	NC_000010.10:g.112667546G>A	VUS	1 lab	9201fa29ea
X:51638269 MAGED1 C>T	X	51638269	51638269	C	T	MAGED1	c.334C>T	NM_001005333.1	NP_001005333.1:p.(Pro112Ser)	NC_000023.10:g.51638269C>T	VUS	1 lab	920270593b
X:50377844 SHROOM4 T>C	X	50377844	50377844	T	C	SHROOM4	c.1229A>G	NM_020717.3	NP_065768.2:p.(His410Arg)	NC_000023.10:g.50377844T>C	VUS	1 lab	920315e3ae
19:36221766 KMT2B C>T	19	36221766	36221766	C	T	KMT2B	c.5435C>T	NM_014727.2	NP_055542.1:p.(Ser1812Leu)	NC_000019.9:g.36221766C>T	VUS	1 lab	92031ff584
X:140996391 MAGEC1 C>T	X	140996391	140996391	C	T	MAGEC1	c.3201C>T	NM_005462.4	NP_005453.2:p.(Tyr1067=)	NC_000023.10:g.140996391C>T	(Likely) benign	1 lab	92037674cc
2:219208276 PNKD C>T	2	219208276	219208276	C	T	PNKD	c.835C>T	NM_015488.4	NP_056303.3:p.(Leu279=)	NC_000002.11:g.219208276C>T	(Likely) benign	1 lab	9206d25ed0
X:2835919 ARSD G>A	X	2835919	2835919	G	A	ARSD	c.789C>T	NM_001669.3	NP_001660.2:p.(Asp263=)	NC_000023.10:g.2835919G>A	(Likely) benign	1 lab	92092c36ef
X:11793147 MSL3 C>T	X	11793147	11793147	C	T	MSL3	c.1515C>T	NM_078629.3	NP_523353.2:p.(Val505=)	NC_000023.10:g.11793147C>T	(Likely) benign	1 lab	920b0bbc82
X:135767885 ARHGEF6 C>T	X	135767885	135767885	C	T	ARHGEF6	c.1343G>A	NM_004840.2	NP_004831.1:p.(Gly448Glu)	NC_000023.10:g.135767885C>T	VUS	1 lab	920c75fc83
15:38616955 SPRED1 T>G	15	38616955	38616955	T	G	SPRED1	c.377-9T>G	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38616955T>G	VUS	1 lab	920cffecbc
17:2577375 PAFAH1B1 A>T	17	2577375	2577375	A	T	PAFAH1B1	c.693A>T	NM_000430.3	NP_000421.1:p.(Thr231=)	NC_000017.10:g.2577375A>T	(Likely) benign	1 lab	920dc16206
X:152482901 MAGEA1 G>A	X	152482901	152482901	G	A	MAGEA1	c.110C>T	NM_004988.4	NP_004979.3:p.(Pro37Leu)	NC_000023.10:g.152482901G>A	(Likely) benign	1 lab	920ef2e1b4
1:1431173 ATAD3B C>T	1	1431173	1431173	C	T	ATAD3B	c.1923C>T	NM_031921.5	NP_114127.3:p.(Cys641=)	NC_000001.10:g.1431173C>T	(Likely) benign	1 lab	920fcb7d7b
X:153592314 FLNA AC>A	X	153592314	153592316	AC	A	FLNA	c.2280+75del	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592316del	(Likely) benign	1 lab	920fd37c2f
11:65635806 EFEMP2 T>C	11	65635806	65635806	T	C	EFEMP2	c.934A>G	NM_016938.4	NP_058634.4:p.(Thr312Ala)	NC_000011.9:g.65635806T>C	VUS	1 lab	92130b1ebc
7:5363909 TNRC18 G>A	7	5363909	5363909	G	A	TNRC18	c.6378C>T	NM_001080495.2	NP_001073964.2:p.(Asp2126=)	NC_000007.13:g.5363909G>A	(Likely) benign	1 lab	921398a992
10:81609720 NUTM2E A>G	10	81609720	81609720	A	G	NUTM2E	c.1995A>G	NM_001355263.1	NP_001342192.1:p.(Glu665=)	NC_000010.10:g.81609720A>G	(Likely) benign	1 lab	92144eb94c
15:74467757 ISLR C>T	15	74467757	74467757	C	T	ISLR	c.558C>T	NM_005545.4	NP_005536.1:p.(Cys186=)	NC_000015.9:g.74467757C>T	(Likely) benign	1 lab	92173f3779
2:98349779 ZAP70 C>T	2	98349779	98349779	C	T	ZAP70	c.810C>T	NM_001079.3	NP_001070.2:p.(Leu270=)	NC_000002.11:g.98349779C>T	(Likely) benign	1 lab	92187a5cfe
11:4471027 OR52K2 G>A	11	4471027	4471027	G	A	OR52K2	c.458G>A	NM_001005172.2	NP_001005172.2:p.(Arg153Gln)	NC_000011.9:g.4471027G>A	VUS	1 lab	9221e0c3ba
1:21044177 KIF17 A>G	1	21044177	21044177	A	G	KIF17	c.23T>C	NM_020816.3	NP_065867.2:p.(Val8Ala)	NC_000001.10:g.21044177A>G	VUS	1 lab	9219fa4cb4
22:28194880 MN1 CGCT>C	22	28194880	28194899	CGCT	C	MN1	c.1649_1651del	NM_002430.3	NP_002421.3:p.(Gln550del)	NC_000022.10:g.28194897_28194899del	(Likely) benign	1 lab	fdd6eab92b
9:140128684 SLC34A3 TGCGCGGCC>T	9	140128684	140128695	TGCGCGGCC	T	SLC34A3	c.1053_1060del	NM_001177316.2	NP_001170787.2:p.(Arg353ProfsTer237)	NC_000009.11:g.140128688_140128695del	(Likely) pathogenic	1 lab	921b94cf38
16:89599054 SPG7 C>T	16	89599054	89599054	C	T	SPG7	c.1324+10C>T	NM_003119.3	NP_003110.1:p.?	NC_000016.9:g.89599054C>T	(Likely) benign	1 lab	921bba83fe
17:73517825 TSEN54 G>A	17	73517825	73517825	G	A	TSEN54	c.663G>A	NM_207346.2	NP_997229.2:p.(Leu221=)	NC_000017.10:g.73517825G>A	(Likely) benign	1 lab	921d3a1f09
14:31592119 HECTD1 C>T	14	31592119	31592119	C	T	HECTD1	c.5115+1G>A	NM_015382.4	NP_056197.3:p.?	NC_000014.8:g.31592119C>T	VUS	1 lab	921f140394
22:19883024 TXNRD2 C>T	22	19883024	19883024	C	T	TXNRD2	c.855G>A	NM_001282512.2	NP_001269441.1:p.(Arg285=)	NC_000022.10:g.19883024C>T	(Likely) benign	1 lab	921f3b30ad
17:7752322 KDM6B C>G	17	7752322	7752322	C	G	KDM6B	c.2716C>G	NM_001080424.2	NP_001073893.1:p.(Pro906Ala)	NC_000017.10:g.7752322C>G	(Likely) benign	1 lab	922002e8a5
7:146997339 CNTNAP2 T>C	7	146997339	146997339	T	C	CNTNAP2	c.1455T>C	NM_014141.5	NP_054860.1:p.(Asn485=)	NC_000007.13:g.146997339T>C	(Likely) benign	1 lab	9220267efa
X:47486577 CFP G>A	X	47486577	47486577	G	A	CFP	c.729C>T	NM_002621.2	NP_002612.1:p.(Tyr243=)	NC_000023.10:g.47486577G>A	(Likely) benign	1 lab	9220b6303d
16:19566931 MISSING C>A	16	19566931	19566931	C	A	MISSING				NC_000016.9:g.19566931C>A	(Likely) benign	1 lab	92211710ea
6:152469329 SYNE1 G>C	6	152469329	152469329	G	C	SYNE1	c.24827C>G	NM_182961.3	NP_892006.3:p.(Ala8276Gly)	NC_000006.11:g.152469329G>C	VUS	1 lab	92225ab3a4
17:41276030 BRCA1 T>TG	17	41276030	41276031	T	TG	BRCA1	c.80+3_80+4insC	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276030_41276031insG	VUS	1 lab	fdd8bf2bb6
X:16188780 MAGEB17 C>A	X	16188780	16188780	C	A	MAGEB17	c.275C>A	NM_001277307.1	NP_001264236.1:p.(Pro92His)	NC_000023.10:g.16188780C>A	VUS	1 lab	9224760823
11:35016675 PDHX A>G	11	35016675	35016675	A	G	PDHX	c.1462A>G	NM_003477.2	NP_003468.2:p.(Lys488Glu)	NC_000011.9:g.35016675A>G	(Likely) benign	1 lab	9225219561
2:71163161 ATP6V1B1 T>C	2	71163161	71163161	T	C	ATP6V1B1	c.77T>C	NM_001692.4	NP_001683.2:p.(Met26Thr)	NC_000002.11:g.71163161T>C	(Likely) benign	1 lab	9225c42b97
X:118281467 KIAA1210 G>A	X	118281467	118281467	G	A	KIAA1210	c.379C>T	NM_020721.1	NP_065772.1:p.(Leu127Phe)	NC_000023.10:g.118281467G>A	(Likely) benign	1 lab	922790a196
15:73617727 HCN4 C>T	15	73617727	73617727	C	T	HCN4	c.1649G>A	NM_005477.2	NP_005468.1:p.(Arg550His)	NC_000015.9:g.73617727C>T	VUS	1 lab	922ac19fc1
6:152688371 SYNE1 G>A	6	152688371	152688371	G	A	SYNE1	c.9954C>T	NM_182961.3	NP_892006.3:p.(Ser3318=)	NC_000006.11:g.152688371G>A	(Likely) benign	1 lab	922b8ce15f
13:115090232 CHAMP1 C>T	13	115090232	115090232	C	T	CHAMP1	c.915C>T	NM_032436.3	NP_115812.1:p.(Pro305=)	NC_000013.10:g.115090232C>T	(Likely) benign	1 lab	922bdee5ec
X:153670998 GDI1 C>T	X	153670998	153670998	C	T	GDI1	c.1323C>T	NM_001493.2	NP_001484.1:p.(Val441=)	NC_000023.10:g.153670998C>T	(Likely) benign	1 lab	922c000b2d
22:28503355 TTC28 C>T	22	28503355	28503355	C	T	TTC28	c.2478G>A	NM_001145418.1	NP_001138890.1:p.(Lys826=)	NC_000022.10:g.28503355C>T	(Likely) benign	1 lab	922c448182
20:44523720 CTSA G>A	20	44523720	44523720	G	A	CTSA	c.1036G>A	NM_001127695.2	NP_001121167.1:p.(Val346Met)	NC_000020.10:g.44523720G>A	VUS	1 lab	922e2a8708
1:2338307 PEX10 C>T	1	2338307	2338307	C	T	PEX10	c.688G>A	NM_153818.1	NP_722540.1:p.(Asp230Asn)	NC_000001.10:g.2338307C>T	VUS	1 lab	922e8cfd77
X:53607866 HUWE1 T>C	X	53607866	53607866	T	C	HUWE1	c.5641A>G	NM_031407.6	NP_113584.3:p.(Asn1881Asp)	NC_000023.10:g.53607866T>C	(Likely) benign	1 lab	922f01744a
3:52551410 STAB1 G>T	3	52551410	52551410	G	T	STAB1	c.4563+1G>T	NM_015136.3	NP_055951.2:p.?	NC_000003.11:g.52551410G>T	VUS	1 lab	922f1fe88d
19:12856452 GET3 T>C	19	12856452	12856452	T	C	GET3	c.488T>C	NM_004317.3	NP_004308.2:p.(Val163Ala)	NC_000019.9:g.12856452T>C	VUS	1 lab	922fbed5d9
11:118963485 HMBS GC>G	11	118963485	118963487	GC	G	HMBS	c.791del	NM_000190.4	NP_000181.2:p.(Pro264GlnfsTer2)	NC_000011.9:g.118963487del	(Likely) pathogenic	1 lab	92306ebad0
3:38783809 SCN10A G>A	3	38783809	38783809	G	A	SCN10A	c.2079C>T	NM_006514.3	NP_006505.3:p.(Phe693=)	NC_000003.11:g.38783809G>A	(Likely) benign	1 lab	923665a321
10:96076340 PLCE1 A>C	10	96076340	96076340	A	C	PLCE1	c.6169A>C	NM_016341.3	NP_057425.3:p.(Thr2057Pro)	NC_000010.10:g.96076340A>C	(Likely) benign	1 lab	9239b71d39
7:97770774 LMTK2 T>C	7	97770774	97770774	T	C	LMTK2	c.297T>C	NM_014916.3	NP_055731.2:p.(Val99=)	NC_000007.13:g.97770774T>C	(Likely) benign	1 lab	923a3061be
X:150912452 CNGA2 A>G	X	150912452	150912452	A	G	CNGA2	c.1477A>G	NM_005140.1	NP_005131.1:p.(Ile493Val)	NC_000023.10:g.150912452A>G	VUS	1 lab	923bfe6d3d
17:42940078 EFTUD2 T>C	17	42940078	42940078	T	C	EFTUD2	c.1607+3A>G	NM_001258353.1	NP_001245282.1:p.?	NC_000017.10:g.42940078T>C	(Likely) pathogenic	1 lab	923c6255e8
7:21901593 DNAH11 G>A	7	21901593	21901593	G	A	DNAH11				NC_000007.13:g.21901593G>A	(Likely) benign	1 lab	923c648a90
11:26574776 ANO3 TG>T	11	26574776	26574777	TG	T	ANO3	c.1290-19del	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26574777del	(Likely) benign	1 lab	fddcba50a9
5:135391374 TGFBI C>T	5	135391374	135391374	C	T	TGFBI	c.1416C>T	NM_000358.3	NP_000349.1:p.(Leu472=)	NC_000005.9:g.135391374C>T	(Likely) benign	1 lab	fde0873d12
2:227872254 COL4A4 G>C	2	227872254	227872254	G	C	COL4A4	c.4860C>G	NM_000092.4	NP_000083.3:p.(Gly1620=)	NC_000002.11:g.227872254G>C	(Likely) benign	1 lab	924173e060
17:41108574 AARSD1 C>T	17	41108574	41108574	C	T	AARSD1	c.393G>A	NM_001261434.2	NP_001248363.1:p.(Glu131=)	NC_000017.10:g.41108574C>T	(Likely) benign	1 lab	9242533e78
12:32996118 PKP2 T>C	12	32996118	32996118	T	C	PKP2	c.1508A>G	NM_004572.3	NP_004563.2:p.(His503Arg)	NC_000012.11:g.32996118T>C	VUS	1 lab	92436888aa
11:3832542 PGAP2 G>A	11	3832542	3832542	G	A	PGAP2	c.224G>A	NM_001256236.1	NP_001243165.1:p.(Arg75His)	NC_000011.9:g.3832542G>A	VUS	1 lab	9243999b23
12:6161792 VWF G>A	12	6161792	6161792	G	A	VWF	c.2103C>T	NM_000552.3	NP_000543.2:p.(Cys701=)	NC_000012.11:g.6161792G>A	(Likely) benign	1 lab	9244edeb00
17:16852132 TNFRSF13B C>T	17	16852132	16852132	C	T	TNFRSF13B	c.365G>A	NM_012452.2	NP_036584.1:p.(Arg122Gln)	NC_000017.10:g.16852132C>T	(Likely) benign	1 lab	9244faff9c
8:145009275 PLEC G>A	8	145009275	145009275	G	A	PLEC	c.1140C>T	NM_201380.3	NP_958782.1:p.(Val380=)	NC_000008.10:g.145009275G>A	(Likely) benign	1 lab	92452d1d71
11:73789732 C2CD3 G>A	11	73789732	73789732	G	A	C2CD3	c.4031C>T	NM_001286577.1	NP_001273506.1:p.(Pro1344Leu)	NC_000011.9:g.73789732G>A	VUS	1 lab	92459a64c7
12:124835208 NCOR2 G>A	12	124835208	124835208	G	A	NCOR2	c.3769C>T	NM_006312.5	NP_006303.4:p.(Arg1257Cys)	NC_000012.11:g.124835208G>A	VUS	1 lab	9245b18203
4:88537441 DSPP C>T	4	88537441	88537441	C	T	DSPP	c.3627C>T	NM_014208.3	NP_055023.2:p.(Asp1209=)	NC_000004.11:g.88537441C>T	(Likely) benign	1 lab	9245d2788a
16:57695802 ADGRG1 ATCT>A	16	57695802	57695811	ATCT	A	ADGRG1	c.1865_1867del	NM_201525.4	NP_958933.1:p.(Phe622del)	NC_000016.9:g.57695809_57695811del	VUS	1 lab	9245dd23c0
1:16462195 EPHA2 C>T	1	16462195	16462195	C	T	EPHA2	c.1383G>A	NM_004431.4	NP_004422.2:p.(Pro461=)	NC_000001.10:g.16462195C>T	(Likely) benign	1 lab	92477efd7e
1:12343459 VPS13D C>T	1	12343459	12343459	C	T	VPS13D	c.5300C>T	NM_015378.4	NP_056193.2:p.(Thr1767Ile)	NC_000001.10:g.12343459C>T	VUS	1 lab	92488cda01
17:29553618 NF1 GTGGA>G	17	29553618	29553624	GTGGA	G	NF1	c.2170_2173del	NM_001042492.3	NP_001035957.1:p.(Asp724LysfsTer23)	NC_000017.10:g.29553621_29553624del	(Likely) pathogenic	1 lab	9249b87519
1:150484317 ECM1 C>T	1	150484317	150484317	C	T	ECM1	c.1164+10C>T	NM_001202858.1	NP_001189787.1:p.?	NC_000001.10:g.150484317C>T	(Likely) benign	1 lab	924cad01eb
3:184045705 EIF4G1 A>C	3	184045705	184045705	A	C	EIF4G1	c.3889A>C	NM_001194946.1	NP_001181875.1:p.(Ser1297Arg)	NC_000003.11:g.184045705A>C	VUS	1 lab	924cd80d1e
9:116346231 RGS3 C>T	9	116346231	116346231	C	T	RGS3	c.2539C>T	NM_144488.5	NP_652759.3:p.(Pro847Ser)	NC_000009.11:g.116346231C>T	(Likely) benign	1 lab	924f132302
17:29550567 NF1 AT>A	17	29550567	29550570	AT	A	NF1	c.1830del	NM_001042492.3	NP_001035957.1:p.(Leu611PhefsTer20)	NC_000017.10:g.29550570del	(Likely) pathogenic	1 lab	924f37cbab
19:3907802 ATCAY G>A	19	3907802	3907802	G	A	ATCAY	c.429G>A	NM_033064.4	NP_149053.1:p.(Thr143=)	NC_000019.9:g.3907802G>A	(Likely) benign	1 lab	92500f9fde
17:7806293 CHD3 C>T	17	7806293	7806293	C	T	CHD3	c.3586C>T	NM_001005271.2	NP_001005271.2:p.(Arg1196Ter)	NC_000017.10:g.7806293C>T	VUS	1 lab	92501d7c76
19:55865246 COX6B2 G>A	19	55865246	55865246	G	A	COX6B2	c.201C>T	NM_144613.5	NP_653214.2:p.(Cys67=)	NC_000019.9:g.55865246G>A	(Likely) benign	1 lab	9253374ef5
17:29496977 NF1 T>A	17	29496977	29496977	T	A	NF1	c.548T>A	NM_000267.3	NP_000258.1:p.(Ile183Asn)	NC_000017.10:g.29496977T>A	VUS	1 lab	925459a41b
6:15637970 DTNBP1 T>C	6	15637970	15637970	T	C	DTNBP1	c.222+5A>G	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15637970T>C	(Likely) benign	1 lab	9259189115
5:135392451 TGFBI G>A	5	135392451	135392451	G	A	TGFBI	c.1645G>A	NM_000358.2	NP_000349.1:p.(Ala549Thr)	NC_000005.9:g.135392451G>A	VUS	1 lab	925ddbf6f6
5:60448572 NDUFAF2 A>T	5	60448572	60448572	A	T	NDUFAF2	c.300A>T	NM_174889.5	NP_777549.1:p.(Ile100=)	NC_000005.9:g.60448572A>T	(Likely) benign	1 lab	fde2a5e72e
17:7606357 WRAP53 G>A	17	7606357	7606357	G	A	WRAP53	c.1315G>A	NM_018081.2	NP_060551.2:p.(Val439Met)	NC_000017.10:g.7606357G>A	VUS	1 lab	92615b6b48
14:105409004 AHNAK2 G>A	14	105409004	105409004	G	A	AHNAK2	c.12784C>T	NM_138420.3	NP_612429.2:p.(Pro4262Ser)	NC_000014.8:g.105409004G>A	VUS	1 lab	92622f64af
8:133584558 DNAAF11 A>G	8	133584558	133584558	A	G	DNAAF11	c.1397T>C	NM_012472.5	NP_036604.2:p.(Ile466Thr)	NC_000008.10:g.133584558A>G	(Likely) benign	1 lab	926311ec72
21:47862447 PCNT C>T	21	47862447	47862447	C	T	PCNT	c.9661C>T	NM_006031.5	NP_006022.3:p.(Arg3221Trp)	NC_000021.8:g.47862447C>T	VUS	1 lab	926331889b
20:62642633 PRPF6 C>T	20	62642633	62642633	C	T	PRPF6	c.1306-5C>T	NM_012469.3	NP_036601.2:p.?	NC_000020.10:g.62642633C>T	(Likely) benign	1 lab	9263579f14
3:52505935 NISCH A>G	3	52505935	52505935	A	G	NISCH	c.515A>G	NM_007184.3	NP_009115.2:p.(Asp172Gly)	NC_000003.11:g.52505935A>G	VUS	1 lab	92639b9ca9
11:57571096 CTNND1 C>T	11	57571096	57571096	C	T	CTNND1	c.1424C>T	NM_001085458.1	NP_001078927.1:p.(Thr475Ile)	NC_000011.9:g.57571096C>T	VUS	1 lab	92649bd8c1
5:178413241 GRM6 T>A	5	178413241	178413241	T	A	GRM6	c.2014A>T	NM_000843.4	NP_000834.2:p.(Thr672Ser)	NC_000005.9:g.178413241T>A	VUS	1 lab	9265ba46a2
18:67864963 RTTN C>T	18	67864963	67864963	C	T	RTTN	c.590G>A	NM_173630.3	NP_775901.3:p.(Ser197Asn)	NC_000018.9:g.67864963C>T	VUS	1 lab	9267731117
22:50659797 TUBGCP6 G>A	22	50659797	50659797	G	A	TUBGCP6	c.2991C>T	NM_020461.3	NP_065194.2:p.(Ser997=)	NC_000022.10:g.50659797G>A	(Likely) benign	1 lab	9269426424
1:197108919 ASPM G>A	1	197108919	197108919	G	A	ASPM	c.2004C>T	NM_018136.4	NP_060606.3:p.(Thr668=)	NC_000001.10:g.197108919G>A	(Likely) benign	1 lab	9269a0bfb0
13:103514786 ERCC5 T>C	13	103514786	103514786	T	C	ERCC5	c.1287T>C	NM_000123.3	NP_000114.2:p.(Asp429=)	NC_000013.10:g.103514786T>C	(Likely) benign	1 lab	9269ef423f
14:23859301 MYH6 C>T	14	23859301	23859301	C	T	MYH6	c.3697G>A	NM_002471.3	NP_002462.2:p.(Val1233Ile)	NC_000014.8:g.23859301C>T	VUS	1 lab	926ae9782b
19:46057176 OPA3 G>A	19	46057176	46057176	G	A	OPA3	c.143-7C>T	NM_025136.3	NP_079412.1:p.?	NC_000019.9:g.46057176G>A	(Likely) benign	1 lab	92706442df
1:152286608 FLG C>T	1	152286608	152286608	C	T	FLG	c.754G>A	NM_002016.1	NP_002007.1:p.(Glu252Lys)	NC_000001.10:g.152286608C>T	VUS	1 lab	92706b807c
9:35561014 RUSC2 A>G	9	35561014	35561014	A	G	RUSC2	c.4269A>G	NM_001135999.1	NP_001129471.1:p.(Thr1423=)	NC_000009.11:g.35561014A>G	(Likely) benign	1 lab	9271a641fb
15:80137730 MTHFS C>T	15	80137730	80137730	C	T	MTHFS	c.434G>A	NM_006441.3	NP_006432.1:p.(Arg145Gln)	NC_000015.9:g.80137730C>T	(Likely) pathogenic	1 lab	92752bf11b
17:8791540 PIK3R5 A>G	17	8791540	8791540	A	G	PIK3R5	c.406T>C	NM_001251851.1	NP_001238780.1:p.(Phe136Leu)	NC_000017.10:g.8791540A>G	(Likely) benign	1 lab	927663da05
9:137717733 COL5A1 G>C	9	137717733	137717733	G	C	COL5A1	c.5050G>C	NM_000093.4	NP_000084.3:p.(Asp1684His)	NC_000009.11:g.137717733G>C	VUS	1 lab	9277c2adca
12:106890601 POLR3B G>A	12	106890601	106890601	G	A	POLR3B	c.2889G>A	NM_018082.6	NP_060552.4:p.(Ala963=)	NC_000012.11:g.106890601G>A	(Likely) benign	1 lab	fdea15ca5b
15:101717751 CHSY1 A>G	15	101717751	101717751	A	G	CHSY1	c.2251T>C	NM_014918.4	NP_055733.2:p.(Cys751Arg)	NC_000015.9:g.101717751A>G	(Likely) pathogenic	1 lab	9279b5e49d
17:40715113 COASY TAGG>T	17	40715113	40715118	TAGG	T	COASY	c.476_478del	NM_025233.7	NP_079509.5:p.(Gly159del)	NC_000017.10:g.40715116_40715118del	VUS	1 lab	927b497d2b
9:13188785 MPDZ G>T	9	13188785	13188785	G	T	MPDZ	c.2362C>A	NM_003829.4	NP_003820.2:p.(Pro788Thr)	NC_000009.11:g.13188785G>T	(Likely) benign	1 lab	927b981629
8:22273645 SLC39A14 C>T	8	22273645	22273645	C	T	SLC39A14	c.999C>T	NM_001351660.1	NP_001338589.1:p.(Ile333=)	NC_000008.10:g.22273645C>T	(Likely) benign	1 lab	927d0a89e0
X:73740932 SLC16A2 G>A	X	73740932	73740932	G	A	SLC16A2	c.538G>A	NM_006517.4	NP_006508.2:p.(Val180Ile)	NC_000023.10:g.73740932G>A	(Likely) benign	1 lab	927edbab32
13:25466763 CPAP A>C	13	25466763	25466763	A	C	CPAP	c.3216+18T>G	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25466763A>C	(Likely) benign	1 lab	927fece788
3:41267353 CTNNB1 G>A	3	41267353	41267353	G	A	CTNNB1	c.936+1G>A	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41267353G>A	(Likely) pathogenic	1 lab	fdeaee97cb
11:111742081 ALG9 C>G	11	111742081	111742081	C	G	ALG9	c.125G>C	NM_024740.2	NP_079016.2:p.(Arg42Pro)	NC_000011.9:g.111742081C>G	VUS	1 lab	92857eef7d
15:89398605 ACAN G>T	15	89398605	89398605	G	T	ACAN	c.2789G>T	NM_013227.4	NP_037359.3:p.(Ser930Ile)	NC_000015.9:g.89398605G>T	(Likely) benign	1 lab	fdeb43e8c0
17:10543489 MYH3 TGAA>T	17	10543489	10543497	TGAA	T	MYH3	c.2503_2505del	NM_002470.4	NP_002461.2:p.(Phe835del)	NC_000017.10:g.10543495_10543497del	(Likely) pathogenic	1 lab	9285f26dd2
17:43343939 MAP3K14 C>T	17	43343939	43343939	C	T	MAP3K14	c.2543G>A	NM_003954.5	NP_003945.2:p.(Arg848Gln)	NC_000017.10:g.43343939C>T	VUS	1 lab	928657dc3e
12:126004124 TMEM132B A>G	12	126004124	126004124	A	G	TMEM132B	c.1231A>G	NM_052907.3	NP_443139.2:p.(Ile411Val)	NC_000012.11:g.126004124A>G	(Likely) benign	1 lab	928818ce95
5:36984861 NIPBL G>C	5	36984861	36984861	G	C	NIPBL	c.1579G>C	NM_015384.4	NP_056199.2:p.(Glu527Gln)	NC_000005.9:g.36984861G>C	VUS	1 lab	9288888160
11:103194621 DYNC2H1 G>A	11	103194621	103194621	G	A	DYNC2H1	c.11963G>A	NM_001080463.1	NP_001073932.1:p.(Arg3988His)	NC_000011.9:g.103194621G>A	VUS	1 lab	9288d1681b
18:21112252 NPC1 T>TGA	18	21112252	21112264	T	TGA	NPC1	c.3755-6_3755-5dup	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21112263_21112264dup	(Likely) benign	1 lab	928a991ed4
15:90814976 NGRN C>T	15	90814976	90814976	C	T	NGRN	c.832C>T	NM_001033088.1	NP_001028260.2:p.(Arg278Ter)	NC_000015.9:g.90814976C>T	VUS	1 lab	928b7b96d2
1:34033332 CSMD2 G>A	1	34033332	34033332	G	A	CSMD2	c.8241C>T	NM_001281956.1	NP_001268885.1:p.(Asn2747=)	NC_000001.10:g.34033332G>A	(Likely) benign	1 lab	928bf071d2
10:118897479 VAX1 C>A	10	118897479	118897479	C	A	VAX1	c.89G>T	NM_199131.2	NP_954582.1:p.(Arg30Leu)	NC_000010.10:g.118897479C>A	VUS	1 lab	928c08997c
17:76567741 DNAH17 G>A	17	76567741	76567741	G	A	DNAH17	c.663C>T	NM_173628.3	NP_775899.3:p.(His221=)	NC_000017.10:g.76567741G>A	(Likely) benign	1 lab	928d55e79d
2:179428676 TTN A>C	2	179428676	179428676	A	C	TTN	c.82183T>G	NM_001267550.1	NP_001254479.1:p.(Leu27395Val)	NC_000002.11:g.179428676A>C	VUS	1 lab	928d7941a9
19:6495457 TUBB4A C>T	19	6495457	6495457	C	T	TUBB4A	c.1053G>A	NM_006087.4	NP_006078.2:p.(Thr351=)	NC_000019.9:g.6495457C>T	(Likely) benign	1 lab	928e905aa7
2:170103382 LRP2 G>A	2	170103382	170103382	G	A	LRP2	c.3023C>T	NM_004525.3	NP_004516.2:p.(Ser1008Phe)	NC_000002.11:g.170103382G>A	VUS	1 lab	928efd03eb
19:52249689 FPR1 G>A	19	52249689	52249689	G	A	FPR1	c.559C>T	NM_001193306.1	NP_001180235.1:p.(Pro187Ser)	NC_000019.9:g.52249689G>A	(Likely) benign	1 lab	928f4f3b6c
16:57286068 ARL2BP T>A	16	57286068	57286068	T	A	ARL2BP	c.391-10T>A	NM_012106.3	NP_036238.1:p.?	NC_000016.9:g.57286068T>A	(Likely) benign	1 lab	928fc3468b
X:130413261 IGSF1 C>T	X	130413261	130413261	C	T	IGSF1	c.1701G>A	NM_001170961.1	NP_001164432.1:p.(Thr567=)	NC_000023.10:g.130413261C>T	(Likely) benign	1 lab	9290f09cbe
17:29557347 NF1 A>AGT	17	29557347	29557349	A	AGT	NF1	c.3061_3062dup	NM_000267.3	NP_000258.1:p.(Met1022Ter)	NC_000017.10:g.29557348_29557349dup	(Likely) pathogenic	1 lab	9290f3fae9
17:1554743 PRPF8 A>G	17	1554743	1554743	A	G	PRPF8	c.6615T>C	NM_006445.3	NP_006436.3:p.(Ser2205=)	NC_000017.10:g.1554743A>G	(Likely) benign	1 lab	9294884299
9:2039593 SMARCA2 G>T	9	2039593	2039593	G	T	SMARCA2	c.483G>T	NM_003070.4	NP_003061.3:p.(Pro161=)	NC_000009.11:g.2039593G>T	(Likely) benign	1 lab	9297b15635
8:144940327 EPPK1 G>A	8	144940327	144940327	G	A	EPPK1				NC_000008.10:g.144940327G>A	(Likely) benign	1 lab	c212c7c895
11:17634279 OTOG C>T	11	17634279	17634279	C	T	OTOG	c.6441C>T	NM_001277269.1	NP_001264198.1:p.(Thr2147=)	NC_000011.9:g.17634279C>T	(Likely) benign	1 lab	929819e1b4
16:2136351 TSC2 CCTA>C	16	2136351	2136356	CCTA	C	TSC2	c.4823_4825del	NM_000548.5	NP_000539.2:p.(Tyr1608del)	NC_000016.9:g.2136354_2136356del	(Likely) pathogenic	1 lab	929953d59d
5:233631 SDHA G>A	5	233631	233631	G	A	SDHA	c.935G>A	NM_004168.4	NP_004159.2:p.(Arg312His)	NC_000005.9:g.233631G>A	VUS	1 lab	fdee9366bf
19:1622138 TCF3 G>A	19	1622138	1622138	G	A	TCF3	c.737C>T	NM_003200.5	NP_003191.1:p.(Pro246Leu)	NC_000019.9:g.1622138G>A	VUS	1 lab	929afba5a6
22:19906498 TXNRD2 C>G	22	19906498	19906498	C	G	TXNRD2	c.259G>C	NM_001282512.3	NP_001269441.1:p.(Val87Leu)	NC_000022.10:g.19906498C>G	VUS	1 lab	fdef88754c
16:75589928 TMEM231 G>C	16	75589928	75589928	G	C	TMEM231	c.242C>G	NM_001077416.2	NP_001070884.2:p.(Ala81Gly)	NC_000016.9:g.75589928G>C	VUS	1 lab	92a1bd7834
X:12736213 FRMPD4 A>G	X	12736213	12736213	A	G	FRMPD4	c.3268A>G	NM_014728.3	NP_055543.2:p.(Ser1090Gly)	NC_000023.10:g.12736213A>G	(Likely) benign	1 lab	92a1de4516
15:77321890 PSTPIP1 G>A	15	77321890	77321890	G	A	PSTPIP1	c.510G>A	NM_001321136.1	NP_001308065.1:p.(Gln170=)	NC_000015.9:g.77321890G>A	(Likely) benign	1 lab	92a46a2700
12:49443774 KMT2D G>A	12	49443774	49443774	G	A	KMT2D	c.3597C>T	NM_003482.3	NP_003473.3:p.(Leu1199=)	NC_000012.11:g.49443774G>A	(Likely) benign	1 lab	92a4f83086
8:16859392 FGF20 G>T	8	16859392	16859392	G	T	FGF20	c.150C>A	NM_019851.2	NP_062825.1:p.(Gly50=)	NC_000008.10:g.16859392G>T	(Likely) benign	1 lab	92a6021b39
11:67290029 CABP2 G>A	11	67290029	67290029	G	A	CABP2	c.215C>T	NM_001318496.1	NP_001305425.1:p.(Pro72Leu)	NC_000011.9:g.67290029G>A	(Likely) benign	1 lab	92a84719f1
11:6413003 SMPD1 G>A	11	6413003	6413003	G	A	SMPD1	c.708G>A	NM_001318087.1	NP_001305016.1:p.(Pro236=)	NC_000011.9:g.6413003G>A	(Likely) benign	1 lab	92a890c519
7:151483652 PRKAG2 T>C	7	151483652	151483652	T	C	PRKAG2	c.115-25A>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151483652T>C	(Likely) benign	1 lab	92a8aa3832
16:3808972 CREBBP G>A	16	3808972	3808972	G	A	CREBBP	c.3252C>T	NM_004380.2	NP_004371.2:p.(Ile1084=)	NC_000016.9:g.3808972G>A	(Likely) benign	1 lab	92abc4fc8f
9:79936140 VPS13A A>G	9	79936140	79936140	A	G	VPS13A	c.5471A>G	NM_033305.2	NP_150648.2:p.(Tyr1824Cys)	NC_000009.11:g.79936140A>G	VUS	1 lab	92ac05d0ec
12:50236838 BCDIN3D A>G	12	50236838	50236838	A	G	BCDIN3D	c.33T>C	NM_181708.2	NP_859059.1:p.(Ser11=)	NC_000012.11:g.50236838A>G	(Likely) benign	1 lab	92ac3bc24b
17:29654640 NF1 C>T	17	29654640	29654640	C	T	NF1	c.5329C>T	NM_000267.3	NP_000258.1:p.(Gln1777Ter)	NC_000017.10:g.29654640C>T	(Likely) pathogenic	1 lab	92ae4e795b
11:61549234 MYRF G>A	11	61549234	61549234	G	A	MYRF	c.2954G>A	NM_001127392.3	NP_001120864.1:p.(Arg985His)	NC_000011.9:g.61549234G>A	VUS	1 lab	fdf09c2b66
17:78155448 CARD14 G>A	17	78155448	78155448	G	A	CARD14	c.211G>A	NM_024110.4	NP_077015.2:p.(Gly71Arg)	NC_000017.10:g.78155448G>A	VUS	1 lab	92b23e6f11
X:9673116 TBL1X G>A	X	9673116	9673116	G	A	TBL1X	c.1198G>A	NM_005647.3	NP_005638.1:p.(Gly400Ser)	NC_000023.10:g.9673116G>A	VUS	1 lab	92b599f7d3
1:150532599 ADAMTSL4 A>C	1	150532599	150532599	A	C	ADAMTSL4	c.3221A>C	NM_001288608.1	NP_001275537.1:p.(Tyr1074Ser)	NC_000001.10:g.150532599A>C	VUS	1 lab	92b5b50029
4:140272383 NAA15 T>G	4	140272383	140272383	T	G	NAA15	c.850T>G	NM_057175.4	NP_476516.1:p.(Trp284Gly)	NC_000004.11:g.140272383T>G	(Likely) benign	1 lab	92b793e0e9
2:179391947 TTN T>G	2	179391947	179391947	T	G	TTN	c.107768A>C	NM_001267550.1	NP_001254479.1:p.(Glu35923Ala)	NC_000002.11:g.179391947T>G	VUS	1 lab	92b841eb3e
2:28865741 PLB1 C>T	2	28865741	28865741	C	T	PLB1	c.4191C>T	NM_153021.4	NP_694566.4:p.(Tyr1397=)	NC_000002.11:g.28865741C>T	(Likely) benign	1 lab	92b951ecee
X:153941674 GAB3 G>A	X	153941674	153941674	G	A	GAB3	c.404C>T	NM_001081573.2	NP_001075042.1:p.(Thr135Met)	NC_000023.10:g.153941674G>A	(Likely) benign	1 lab	92ba0f7b23
17:29315018 RNF135 C>T	17	29315018	29315018	C	T	RNF135	c.573C>T	NM_001184992.1	NP_001171921.1:p.(Asp191=)	NC_000017.10:g.29315018C>T	(Likely) benign	1 lab	92ba971254
6:111697367 REV3L C>T	6	111697367	111697367	C	T	REV3L	c.1957G>A	NM_001286431.1	NP_001273360.1:p.(Ala653Thr)	NC_000006.11:g.111697367C>T	(Likely) benign	1 lab	92bafb2257
9:32543301 TOPORS C>T	9	32543301	32543301	C	T	TOPORS	c.1222G>A	NM_005802.4	NP_005793.2:p.(Val408Ile)	NC_000009.11:g.32543301C>T	VUS	1 lab	92bb949c98
X:24330024 SUPT20HL2 C>T	X	24330024	24330024	C	T	SUPT20HL2	c.1487G>A	NM_001136233.2	NP_001129705.2:p.(Ser496Asn)	NC_000023.10:g.24330024C>T	VUS	1 lab	92bbd59999
4:123095740 BLTP1 T>C	4	123095740	123095740	T	C	BLTP1	c.226T>C	NM_015312.4	NP_056127.2:p.(Phe76Leu)	NC_000004.11:g.123095740T>C	VUS	1 lab	fdf7e6cb9d
8:140630732 KCNK9 G>T	8	140630732	140630732	G	T	KCNK9	c.894C>A	NM_001282534.1	NP_001269463.1:p.(Ser298=)	NC_000008.10:g.140630732G>T	(Likely) benign	1 lab	92bf1e9464
8:145541990 DGAT1 G>A	8	145541990	145541990	G	A	DGAT1	c.610C>T	NM_012079.5	NP_036211.2:p.(Leu204Phe)	NC_000008.10:g.145541990G>A	VUS	1 lab	92c03944ba
1:36563820 COL8A2 G>A	1	36563820	36563820	G	A	COL8A2	c.1462C>T	NM_005202.3	NP_005193.1:p.(Leu488=)	NC_000001.10:g.36563820G>A	(Likely) benign	1 lab	92c27a91e5
X:32867923 DMD A>G	X	32867923	32867923	A	G	DMD	c.84T>C	NM_000109.3	NP_000100.2:p.(His28=)	NC_000023.10:g.32867923A>G	(Likely) benign	1 lab	92c2e31ec0
3:132202407 DNAJC13 A>T	3	132202407	132202407	A	T	DNAJC13	c.3183A>T	NM_001329126.1	NP_001316055.1:p.(Gly1061=)	NC_000003.11:g.132202407A>T	(Likely) benign	1 lab	92c572685c
11:57428462 CLP1 C>T	11	57428462	57428462	C	T	CLP1	c.832C>T	NM_006831.2	NP_006822.1:p.(Leu278=)	NC_000011.9:g.57428462C>T	(Likely) benign	1 lab	92c65e1b5c
9:43844153 MISSING G>A	9	43844153	43844153	G	A	MISSING				NC_000009.11:g.43844153G>A	(Likely) benign	1 lab	92c7204505
14:58924504 KIAA0586 C>A	14	58924504	58924504	C	A	KIAA0586	c.1390C>A	NM_001329943.2	NP_001316872.1:p.(Leu464Ile)	NC_000014.8:g.58924504C>A	(Likely) benign	1 lab	92c914610c
2:179435665 TTN T>C	2	179435665	179435665	T	C	TTN	c.75194A>G	NM_001267550.2	NP_001254479.2:p.(His25065Arg)	NC_000002.11:g.179435665T>C	(Likely) benign	1 lab	fdfa7bd14a
22:38536076 PLA2G6 C>T	22	38536076	38536076	C	T	PLA2G6	c.710G>A	NM_003560.2	NP_003551.2:p.(Arg237His)	NC_000022.10:g.38536076C>T	(Likely) benign	1 lab	92cc1aa2fc
11:1028774 MUC6 G>A	11	1028774	1028774	G	A	MUC6	c.1463C>T	NM_005961.2	NP_005952.2:p.(Thr488Met)	NC_000011.9:g.1028774G>A	VUS	1 lab	92cd2a75ed
10:50732098 ERCC6 A>C	10	50732098	50732098	A	C	ERCC6	c.1378T>G	NM_001346440.1	NP_001333369.1:p.(Tyr460Asp)	NC_000010.10:g.50732098A>C	VUS	1 lab	92cde13cd2
X:41025143 USP9X T>A	X	41025143	41025143	T	A	USP9X	c.2004T>A	NM_001039590.2	NP_001034679.2:p.(Gly668=)	NC_000023.10:g.41025143T>A	(Likely) benign	1 lab	92ce00e93a
3:123022006 ADCY5 T>C	3	123022006	123022006	T	C	ADCY5	c.2620A>G	NM_183357.2	NP_899200.1:p.(Ser874Gly)	NC_000003.11:g.123022006T>C	(Likely) benign	1 lab	92ce53e29a
1:1420537 ATAD3B C>T	1	1420537	1420537	C	T	ATAD3B	c.754C>T	NM_001317238.1	NP_001304167.1:p.(Arg252Trp)	NC_000001.10:g.1420537C>T	(Likely) benign	1 lab	92cebe4008
2:218745631 TNS1 G>A	2	218745631	218745631	G	A	TNS1	c.1044C>T	NM_022648.5	NP_072174.3:p.(Asp348=)	NC_000002.11:g.218745631G>A	(Likely) benign	1 lab	92cf679393
1:225600183 LBR G>A	1	225600183	225600183	G	A	LBR	c.1057C>T	NM_194442.2	NP_919424.1:p.(Arg353Trp)	NC_000001.10:g.225600183G>A	(Likely) benign	1 lab	92d5a3e85a
1:205740668 RAB29 G>C	1	205740668	205740668	G	C	RAB29	c.310C>G	NM_003929.3	NP_003920.1:p.(Gln104Glu)	NC_000001.10:g.205740668G>C	(Likely) benign	1 lab	92d6c62315
10:13166053 OPTN A>T	10	13166053	13166053	A	T	OPTN	c.941A>T	NM_001008211.1	NP_001008212.1:p.(Gln314Leu)	NC_000010.10:g.13166053A>T	VUS	1 lab	92d7fdf85a
1:39775307 MACF1 T>G	1	39775307	39775307	T	G	MACF1	c.2870T>G	NM_012090.5	NP_036222.3:p.(Leu957Arg)	NC_000001.10:g.39775307T>G	VUS	1 lab	92d83e6266
7:35244083 TBX20 T>A	7	35244083	35244083	T	A	TBX20	c.1002A>T	NM_001077653.2	NP_001071121.1:p.(Arg334=)	NC_000007.13:g.35244083T>A	VUS	1 lab	92d896e399
1:153907278 DENND4B C>G	1	153907278	153907278	C	G	DENND4B	c.2731G>C	NM_014856.3	NP_055671.2:p.(Glu911Gln)	NC_000001.10:g.153907278C>G	(Likely) benign	1 lab	92d9d624c3
13:32954239 BRCA2 G>T	13	32954239	32954239	G	T	BRCA2	c.9213G>T	NM_000059.3	NP_000050.2:p.(Glu3071Asp)	NC_000013.10:g.32954239G>T	VUS	1 lab	92daf82453
4:121828678 PRDM5 C>G	4	121828678	121828678	C	G	PRDM5	c.128G>C	NM_018699.3	NP_061169.2:p.(Arg43Thr)	NC_000004.11:g.121828678C>G	VUS	1 lab	92ded998a5
18:44104779 LOXHD1 C>T	18	44104779	44104779	C	T	LOXHD1	c.4632G>A	NM_144612.6	NP_653213.6:p.(Lys1544=)	NC_000018.9:g.44104779C>T	(Likely) benign	1 lab	92df4271ac
6:10818092 MAK A>C	6	10818092	10818092	A	C	MAK	c.269T>G	NM_001242957.2	NP_001229886.1:p.(Met90Arg)	NC_000006.11:g.10818092A>C	VUS	1 lab	92df766f84
13:40233502 COG6 A>G	13	40233502	40233502	A	G	COG6	c.155A>G	NM_001145079.1	NP_001138551.1:p.(Glu52Gly)	NC_000013.10:g.40233502A>G	VUS	1 lab	92e2518332
1:43915802 SZT2 G>C	1	43915802	43915802	G	C	SZT2	c.9944G>C	NM_015284.4	NP_056099.3:p.(Cys3315Ser)	NC_000001.10:g.43915802G>C	VUS	1 lab	fe0463d2bb
X:106200237 MORC4 G>A	X	106200237	106200237	G	A	MORC4	c.1386-3C>T	NM_024657.5	NP_078933.3:p.?	NC_000023.10:g.106200237G>A	(Likely) benign	1 lab	92e5f5f1f3
3:81630387 GBE1 C>A	3	81630387	81630387	C	A	GBE1	c.1375G>T	NM_000158.3	NP_000149.3:p.(Asp459Tyr)	NC_000003.11:g.81630387C>A	VUS	1 lab	92e65d69f3
3:129324559 PLXND1 G>A	3	129324559	129324559	G	A	PLXND1	c.924C>T	NM_015103.2	NP_055918.2:p.(Gly308=)	NC_000003.11:g.129324559G>A	(Likely) benign	1 lab	92e957144d
5:126156764 LMNB1 T>C	5	126156764	126156764	T	C	LMNB1	c.1323T>C	NM_005573.3	NP_005564.1:p.(Asn441=)	NC_000005.9:g.126156764T>C	(Likely) benign	1 lab	92e99437ec
X:24073113 EIF2S3 C>T	X	24073113	24073113	C	T	EIF2S3	c.28C>T	NM_001415.3	NP_001406.1:p.(Leu10=)	NC_000023.10:g.24073113C>T	(Likely) benign	1 lab	92e9979bf4
2:179409102 TTN CCTT>C	2	179409102	179409107	CCTT	C	TTN	c.95851_95853del	NM_001267550.2	NP_001254479.2:p.(Lys31951del)	NC_000002.11:g.179409105_179409107del	VUS	1 lab	92ea303826
14:76957863 ESRRB C>A	14	76957863	76957863	C	A	ESRRB	c.861C>A	NM_004452.3	NP_004443.3:p.(Gly287=)	NC_000014.8:g.76957863C>A	(Likely) benign	1 lab	92eafd5136
10:14995974 DCLRE1C T>G	10	14995974	14995974	T	G	DCLRE1C	c.36A>C	NM_001350965.1	NP_001337894.1:p.(Pro12=)	NC_000010.10:g.14995974T>G	(Likely) benign	1 lab	92eb383a7e
9:80866925 CEP78 C>A	9	80866925	80866925	C	A	CEP78	c.1174C>A	NM_001349839.1	NP_001336768.1:p.(Pro392Thr)	NC_000009.11:g.80866925C>A	VUS	1 lab	92ed0d083f
9:135781073 TSC1 GCTTT>G	9	135781073	135781081	GCTTT	G	TSC1	c.1888_1891del	NM_000368.5	NP_000359.1:p.(Lys630GlnfsTer22)	NC_000009.11:g.135781078_135781081del	(Likely) pathogenic	1 lab	92ed1930ea
2:39224484 SOS1 A>G	2	39224484	39224484	A	G	SOS1	c.2874T>C	NM_005633.3	NP_005624.2:p.(Phe958=)	NC_000002.11:g.39224484A>G	(Likely) benign	1 lab	92ef28b8ab
2:71148395 VAX2 C>A	2	71148395	71148395	C	A	VAX2	c.415C>A	NM_012476.2	NP_036608.1:p.(Leu139Met)	NC_000002.11:g.71148395C>A	VUS	1 lab	92ef38fd6c
1:207644155 CR2 A>T	1	207644155	207644155	A	T	CR2	c.1296A>T	NM_001006658.2	NP_001006659.1:p.(Gly432=)	NC_000001.10:g.207644155A>T	VUS	1 lab	92ef5f2742
15:45897628 BLOC1S6 T>G	15	45897628	45897628	T	G	BLOC1S6	c.315T>G	NM_012388.3	NP_036520.1:p.(Phe105Leu)	NC_000015.9:g.45897628T>G	VUS	1 lab	92f06037bc
7:65445385 GUSB G>A	7	65445385	65445385	G	A	GUSB	c.222C>T	NM_000181.3	NP_000172.2:p.(Thr74=)	NC_000007.13:g.65445385G>A	(Likely) benign	1 lab	92f13438f3
10:78869996 KCNMA1 C>G	10	78869996	78869996	C	G	KCNMA1	c.1066G>C	NM_001014797.2	NP_001014797.1:p.(Gly356Arg)	NC_000010.10:g.78869996C>G	VUS	1 lab	92f1d6c203
7:103338335 RELN C>G	7	103338335	103338335	C	G	RELN	c.1108G>C	NM_005045.3	NP_005036.2:p.(Gly370Arg)	NC_000007.13:g.103338335C>G	VUS	1 lab	92f1fa45ac
14:95669601 CLMN G>A	14	95669601	95669601	G	A	CLMN	c.2085C>T	NM_024734.4	NP_079010.2:p.(Val695=)	NC_000014.8:g.95669601G>A	(Likely) benign	1 lab	92f210b6ae
X:70326217 CXorf65 G>T	X	70326217	70326217	G	T	CXorf65	c.85C>A	NM_001025265.2	NP_001020436.1:p.(Arg29Ser)	NC_000023.10:g.70326217G>T	(Likely) benign	1 lab	92f3454cb6
8:106814835 ZFPM2 G>A	8	106814835	106814835	G	A	ZFPM2	c.2525G>A	NM_012082.4	NP_036214.2:p.(Arg842Gln)	NC_000008.10:g.106814835G>A	VUS	1 lab	fe052b214b
1:237713870 RYR2 C>T	1	237713870	237713870	C	T	RYR2	c.3093C>T	NM_001035.2	NP_001026.2:p.(Arg1031=)	NC_000001.10:g.237713870C>T	(Likely) benign	1 lab	92f3dc8353
8:10465430 RP1L1 C>T	8	10465430	10465430	C	T	RP1L1	c.6178G>A	NM_178857.5	NP_849188.4:p.(Ala2060Thr)	NC_000008.10:g.10465430C>T	(Likely) benign	1 lab	92f5fd58bd
17:45017949 GOSR2 C>T	17	45017949	45017949	C	T	GOSR2	c.612C>T	NM_054022.3	NP_473363.1:p.(His204=)	NC_000017.10:g.45017949C>T	(Likely) benign	1 lab	92f76ad165
2:98797614 VWA3B A>T	2	98797614	98797614	A	T	VWA3B	c.1250A>T	NM_144992.4	NP_659429.4:p.(His417Leu)	NC_000002.11:g.98797614A>T	VUS	1 lab	92f7e05bf7
1:152278336 FLG C>T	1	152278336	152278336	C	T	FLG	c.9026G>A	NM_002016.1	NP_002007.1:p.(Arg3009Gln)	NC_000001.10:g.152278336C>T	(Likely) benign	1 lab	92fb027309
13:52508899 ATP7B T>G	13	52508899	52508899	T	G	ATP7B	c.4391A>C	NM_000053.3	NP_000044.2:p.(Tyr1464Ser)	NC_000013.10:g.52508899T>G	(Likely) benign	1 lab	92fc20d089
2:179554565 TTN C>T	2	179554565	179554565	C	T	TTN	c.31821G>A	NM_001267550.1	NP_001254479.1:p.(Lys10607=)	NC_000002.11:g.179554565C>T	(Likely) benign	1 lab	92fe142c64
17:73753266 ITGB4 A>G	17	73753266	73753266	A	G	ITGB4	c.5219-15A>G	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73753266A>G	(Likely) benign	1 lab	fe05f7e703
20:43623907 STK4 G>C	20	43623907	43623907	G	C	STK4	c.693+9G>C	NM_006282.2	NP_006273.1:p.?	NC_000020.10:g.43623907G>C	(Likely) benign	1 lab	930041aedc
2:179585678 TTN C>T	2	179585678	179585678	C	T	TTN	c.23068G>A	NM_001267550.2	NP_001254479.2:p.(Ala7690Thr)	NC_000002.11:g.179585678C>T	VUS	1 lab	fe08cd0a3e
X:39931729 BCOR G>A	X	39931729	39931729	G	A	BCOR	c.2870C>T	NM_017745.6	NP_060215.4:p.(Pro957Leu)	NC_000023.10:g.39931729G>A	VUS	1 lab	fe09efb510
X:39932794 BCOR G>A	X	39932794	39932794	G	A	BCOR	c.1805C>T	NM_001123385.1	NP_001116857.1:p.(Pro602Leu)	NC_000023.10:g.39932794G>A	VUS	1 lab	930413e3be
1:22204736 HSPG2 A>T	1	22204736	22204736	A	T	HSPG2	c.2631T>A	NM_001291860.1	NP_001278789.1:p.(Ile877=)	NC_000001.10:g.22204736A>T	(Likely) benign	1 lab	930563edde
6:90426384 MDN1 T>C	6	90426384	90426384	T	C	MDN1	c.6728A>G	NM_014611.2	NP_055426.1:p.(Asn2243Ser)	NC_000006.11:g.90426384T>C	VUS	1 lab	930585b63f
18:43510751 EPG5 T>C	18	43510751	43510751	T	C	EPG5	c.2303A>G	NM_020964.3	NP_066015.2:p.(Asn768Ser)	NC_000018.9:g.43510751T>C	VUS	1 lab	9305b72942
X:48759780 PQBP1 C>G	X	48759780	48759780	C	G	PQBP1	c.563C>G	NM_005710.2	NP_005701.1:p.(Pro188Arg)	NC_000023.10:g.48759780C>G	VUS	1 lab	9307395d0f
6:37614135 MDGA1 G>A	6	37614135	37614135	G	A	MDGA1	c.2063C>T	NM_153487.3	NP_705691.1:p.(Ala688Val)	NC_000006.11:g.37614135G>A	(Likely) benign	1 lab	93074d7345
15:90191951 KIF7 G>A	15	90191951	90191951	G	A	KIF7	c.978C>T	NM_198525.2	NP_940927.2:p.(Val326=)	NC_000015.9:g.90191951G>A	(Likely) benign	1 lab	9308c33d34
16:67201032 HSF4 G>T	16	67201032	67201032	G	T	HSF4	c.636G>T	NM_001040667.2	NP_001035757.1:p.(Met212Ile)	NC_000016.9:g.67201032G>T	(Likely) benign	1 lab	930ba03011
9:136594893 SARDH C>T	9	136594893	136594893	C	T	SARDH	c.909G>A	NM_007101.3	NP_009032.2:p.(Gly303=)	NC_000009.11:g.136594893C>T	(Likely) benign	1 lab	930e7a1593
17:80402406 CYBC1 G>A	17	80402406	80402406	G	A	CYBC1	c.360C>T	NM_001193653.1	NP_001180582.1:p.(Phe120=)	NC_000017.10:g.80402406G>A	(Likely) benign	1 lab	930fa1cd19
15:69747845 RPLP1 A>C	15	69747845	69747845	A	C	RPLP1	c.344A>C	NM_001003.3	NP_000994.1:p.(Ter115SerextTer11)	NC_000015.9:g.69747845A>C	VUS	1 lab	93106c6d0f
10:99211481 ZDHHC16 C>T	10	99211481	99211481	C	T	ZDHHC16	c.49C>T	NM_198046.3	NP_932163.1:p.(Arg17Cys)	NC_000010.10:g.99211481C>T	VUS	1 lab	9310bdeb13
6:56374604 DST G>A	6	56374604	56374604	G	A	DST	c.12491C>T	NM_001144769.2	NP_001138241.1:p.(Pro4164Leu)	NC_000006.11:g.56374604G>A	VUS	1 lab	9311514883
17:29552136 NF1 C>CT	17	29552136	29552139	C	CT	NF1	c.1872dup	NM_000267.3	NP_000258.1:p.(Leu625SerfsTer9)	NC_000017.10:g.29552139dup	(Likely) pathogenic	1 lab	931593a377
2:72359508 CYP26B1 G>A	2	72359508	72359508	G	A	CYP26B1	c.1387C>T	NM_019885.3	NP_063938.1:p.(Arg463Cys)	NC_000002.11:g.72359508G>A	VUS	1 lab	9317b43ad0
X:153296294 MECP2 C>T	X	153296294	153296294	C	T	MECP2	c.985G>A	NM_004992.3	NP_004983.1:p.(Gly329Ser)	NC_000023.10:g.153296294C>T	(Likely) benign	1 lab	9317e0fd34
11:64951019 CAPN1 G>C	11	64951019	64951019	G	C	CAPN1	c.412G>C	NM_001198868.1	NP_001185797.1:p.(Gly138Arg)	NC_000011.9:g.64951019G>C	VUS	1 lab	9318342acc
16:27585240 KATNIP C>A	16	27585240	27585240	C	A	KATNIP	c.26C>A	NM_015202.3	NP_056017.3:p.(Ala9Asp)	NC_000016.9:g.27585240C>A	VUS	1 lab	93192c3461
8:100844804 VPS13B A>G	8	100844804	100844804	A	G	VPS13B	c.9613A>G	NM_017890.4	NP_060360.3:p.(Ile3205Val)	NC_000008.10:g.100844804A>G	(Likely) benign	1 lab	9319638604
X:154158743 F8 C>T	X	154158743	154158743	C	T	F8	c.3322G>A	NM_000132.3	NP_000123.1:p.(Ala1108Thr)	NC_000023.10:g.154158743C>T	(Likely) benign	1 lab	931b3b51e1
1:11087276 MASP2 G>A	1	11087276	11087276	G	A	MASP2	c.1727C>T	NM_006610.3	NP_006601.2:p.(Thr576Ile)	NC_000001.10:g.11087276G>A	VUS	1 lab	931be94c9c
X:110005956 CHRDL1 C>T	X	110005956	110005956	C	T	CHRDL1	c.174G>A	NM_001143981.1	NP_001137453.1:p.(Gly58=)	NC_000023.10:g.110005956C>T	(Likely) benign	1 lab	931db32a0e
7:150820922 AGAP3 C>T	7	150820922	150820922	C	T	AGAP3	c.132C>T	NM_001350103.1	NP_001337032.1:p.(Ala44=)	NC_000007.13:g.150820922C>T	(Likely) benign	1 lab	931dd64aa6
20:60448927 CDH4 G>A	20	60448927	60448927	G	A	CDH4	c.1021G>A	NM_001794.5	NP_001785.2:p.(Val341Ile)	NC_000020.10:g.60448927G>A	(Likely) benign	1 lab	931f6505e4
11:2185559 TH G>A	11	2185559	2185559	G	A	TH	c.1491C>T	NM_199292.2	NP_954986.2:p.(Ile497=)	NC_000011.9:g.2185559G>A	(Likely) benign	1 lab	932057e48f
5:89988486 ADGRV1 A>ATAT	5	89988486	89988496	A	ATAT	ADGRV1	c.7024_7026dup	NM_032119.4	NP_115495.3:p.(Ile2342dup)	NC_000005.9:g.89988494_89988496dup	VUS	1 lab	9320cf789d
7:72436618 TRIM74 T>C	7	72436618	72436618	T	C	TRIM74	c.71A>G	NM_198853.2	NP_942150.1:p.(Lys24Arg)	NC_000007.13:g.72436618T>C	(Likely) benign	1 lab	93210bd22b
15:83440903 FSD2 A>G	15	83440903	83440903	A	G	FSD2	c.1189T>C	NM_001007122.4	NP_001007123.1:p.(Tyr397His)	NC_000015.9:g.83440903A>G	(Likely) benign	1 lab	93210e719b
22:51133460 MISSING G>A	22	51133460	51133460	G	A	MISSING				NC_000022.10:g.51133460G>A	(Likely) benign	1 lab	93213bf965
7:99700526 AP4M1 C>T	7	99700526	99700526	C	T	AP4M1	c.294C>T	NM_004722.3	NP_004713.2:p.(Gly98=)	NC_000007.13:g.99700526C>T	VUS	1 lab	9321af1fca
X:153589833 FLNA GGCACC>G	X	153589833	153589840	GGCACC	G	FLNA	c.3045_3049del	NM_001110556.2	NP_001104026.1:p.(Val1016LeufsTer10)	NC_000023.10:g.153589836_153589840del	(Likely) pathogenic	1 lab	9321bb6f35
1:9780851 PIK3CD G>A	1	9780851	9780851	G	A	PIK3CD	c.1573G>A	NM_005026.3	NP_005017.3:p.(Glu525Lys)	NC_000001.10:g.9780851G>A	(Likely) pathogenic	1 lab	9322ea4bef
16:20576161 ACSM2B A>T	16	20576161	20576161	A	T	ACSM2B	c.7T>A	NM_182617.3	NP_872423.3:p.(Trp3Arg)	NC_000016.9:g.20576161A>T	(Likely) benign	1 lab	932369b7f5
X:69421763 DGAT2L6 G>C	X	69421763	69421763	G	C	DGAT2L6	c.496G>C	NM_198512.2	NP_940914.1:p.(Ala166Pro)	NC_000023.10:g.69421763G>C	(Likely) benign	1 lab	9323fb6fe6
8:126087351 WASHC5 T>G	8	126087351	126087351	T	G	WASHC5	c.867A>C	NM_014846.3	NP_055661.3:p.(Val289=)	NC_000008.10:g.126087351T>G	(Likely) benign	1 lab	93266ae1af
5:39289019 C9 A>T	5	39289019	39289019	A	T	C9	c.1451T>A	NM_001737.3	NP_001728.1:p.(Met484Lys)	NC_000005.9:g.39289019A>T	VUS	1 lab	93299b10a5
15:28096538 OCA2 A>G	15	28096538	28096538	A	G	OCA2	c.2328T>C	NM_000275.3	NP_000266.2:p.(Ala776=)	NC_000015.9:g.28096538A>G	(Likely) benign	1 lab	fe108e44a4
15:83207733 RPS17 A>G	15	83207733	83207733	A	G	RPS17	c.159T>C	NM_001021.6	NP_001012.1:p.(Tyr53=)	NC_000015.9:g.83207733A>G	(Likely) benign	1 lab	fe14a6f817
22:35742974 TOM1 C>T	22	35742974	35742974	C	T	TOM1	c.1327+9C>T	NM_001135732.1	NP_001129204.1:p.?	NC_000022.10:g.35742974C>T	(Likely) benign	1 lab	932b2ae2d1
7:127979373 RBM28 T>A	7	127979373	127979373	T	A	RBM28	c.280A>T	NM_018077.2	NP_060547.2:p.(Asn94Tyr)	NC_000007.13:g.127979373T>A	(Likely) benign	1 lab	932c4a65b8
12:2022297 CACNA2D4 C>T	12	2022297	2022297	C	T	CACNA2D4	c.318G>A	NM_172364.4	NP_758952.4:p.(Lys106=)	NC_000012.11:g.2022297C>T	(Likely) benign	1 lab	932ce34907
11:533529 HRAS A>G	11	533529	533529	A	G	HRAS	c.374T>C	NM_005343.2	NP_005334.1:p.(Val125Ala)	NC_000011.9:g.533529A>G	VUS	1 lab	932d6164fb
17:61800638 STRADA G>C	17	61800638	61800638	G	C	STRADA	c.123+20C>G	NM_001003787.3	NP_001003787.1:p.?	NC_000017.10:g.61800638G>C	VUS	1 lab	932d9db2b0
8:19819735 LPL G>C	8	19819735	19819735	G	C	LPL	c.1427+5G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819735G>C	VUS	1 lab	3e394984ac
11:134076510 NCAPD3 C>T	11	134076510	134076510	C	T	NCAPD3	c.1000G>A	NM_015261.2	NP_056076.1:p.(Ala334Thr)	NC_000011.9:g.134076510C>T	VUS	1 lab	932dcd2aee
1:1420520 ATAD3B C>T	1	1420520	1420520	C	T	ATAD3B	c.875C>T	NM_031921.5	NP_114127.3:p.(Thr292Met)	NC_000001.10:g.1420520C>T	VUS	1 lab	9331b2d7a6
17:3386854 ASPA C>T	17	3386854	3386854	C	T	ASPA				NC_000017.10:g.3386854C>T	VUS	1 lab	93327cf2c6
5:14387615 TRIO T>C	5	14387615	14387615	T	C	TRIO	c.3639T>C	NM_007118.3	NP_009049.2:p.(His1213=)	NC_000005.9:g.14387615T>C	(Likely) benign	1 lab	9332b0aa1d
16:2138224 TSC2 C>G	16	2138224	2138224	C	G	TSC2	c.5092-4C>G	NM_001114382.2	NP_001107854.1:p.?	NC_000016.9:g.2138224C>G	(Likely) benign	1 lab	93330e4610
1:197073195 ASPM C>T	1	197073195	197073195	C	T	ASPM	c.5186G>A	NM_018136.4	NP_060606.3:p.(Arg1729Gln)	NC_000001.10:g.197073195C>T	VUS	1 lab	9333134eca
5:137518465 KIF20A A>G	5	137518465	137518465	A	G	KIF20A	c.702+3A>G	NM_005733.3	NP_005724.1:p.?	NC_000005.9:g.137518465A>G	(Likely) benign	1 lab	9335d70748
10:99664556 CRTAC1 T>A	10	99664556	99664556	T	A	CRTAC1	c.866A>T	NM_018058.6	NP_060528.3:p.(His289Leu)	NC_000010.10:g.99664556T>A	VUS	1 lab	93361683ee
11:197577 CIMAP1A G>A	11	197577	197577	G	A	CIMAP1A	c.126G>A	NM_053280.4	NP_444510.2:p.(Thr42=)	NC_000011.9:g.197577G>A	(Likely) benign	1 lab	9336bfc646
12:48372128 COL2A1 G>A	12	48372128	48372128	G	A	COL2A1	c.2949C>T	NM_001844.4	NP_001835.3:p.(Val983=)	NC_000012.11:g.48372128G>A	(Likely) benign	1 lab	933810e888
7:121753726 AASS C>A	7	121753726	121753726	C	A	AASS	c.1092G>T	NM_005763.3	NP_005754.2:p.(Glu364Asp)	NC_000007.13:g.121753726C>A	VUS	1 lab	933a5e1075
5:40947715 C7 G>A	5	40947715	40947715	G	A	C7	c.750G>A	NM_000587.2	NP_000578.2:p.(Leu250=)	NC_000005.9:g.40947715G>A	(Likely) benign	1 lab	933a6282de
8:90955519 NBN T>C	8	90955519	90955519	T	C	NBN	c.2146A>G	NM_002485.4	NP_002476.2:p.(Asn716Asp)	NC_000008.10:g.90955519T>C	(Likely) benign	1 lab	933ce35c65
7:157046707 UBE3C G>A	7	157046707	157046707	G	A	UBE3C	c.2754G>A	NM_014671.3	NP_055486.2:p.(Ala918=)	NC_000007.13:g.157046707G>A	(Likely) benign	1 lab	933dd87663
11:1270133 MUC5B C>T	11	1270133	1270133	C	T	MUC5B	c.12023C>T	NM_002458.2	NP_002449.2:p.(Thr4008Met)	NC_000011.9:g.1270133C>T	(Likely) benign	1 lab	933e26dc3b
17:45043975 GOSR2 G>A	17	45043975	45043975	G	A	GOSR2	c.659G>A	NM_001321133.1	NP_001308062.1:p.(Arg220Gln)	NC_000017.10:g.45043975G>A	VUS	1 lab	933e8edc5d
16:89346600 ANKRD11 G>A	16	89346600	89346600	G	A	ANKRD11	c.6350C>T	NM_013275.6	NP_037407.4:p.(Pro2117Leu)	NC_000016.9:g.89346600G>A	(Likely) benign	1 lab	fe17ec627c
21:47832881 PCNT G>A	21	47832881	47832881	G	A	PCNT	c.6125G>A	NM_006031.5	NP_006022.3:p.(Arg2042His)	NC_000021.8:g.47832881G>A	(Likely) benign	1 lab	93409e310e
15:72642858 HEXA C>T	15	72642858	72642858	C	T	HEXA	c.805+1G>A	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72642858C>T	(Likely) pathogenic	1 lab	fe1b58f1b0
1:229586283 NUP133 A>G	1	229586283	229586283	A	G	NUP133	c.3169T>C	NM_018230.2	NP_060700.2:p.(Tyr1057His)	NC_000001.10:g.229586283A>G	VUS	1 lab	9343d928cc
3:195481196 MUC4 C>T	3	195481196	195481196	C	T	MUC4	c.15216G>A	NM_018406.6	NP_060876.5:p.(Glu5072=)	NC_000003.11:g.195481196C>T	(Likely) benign	1 lab	934858e947
7:645866 PRKAR1B T>G	7	645866	645866	T	G	PRKAR1B	c.513A>C	NM_001164761.1	NP_001158233.1:p.(Gly171=)	NC_000007.13:g.645866T>G	(Likely) benign	1 lab	934a1df8e5
1:226570840 PARP1 T>C	1	226570840	226570840	T	C	PARP1	c.1056A>G	NM_001618.4	NP_001609.2:p.(Lys352=)	NC_000001.10:g.226570840T>C	(Likely) benign	1 lab	fe1ce8c41a
17:6406883 PITPNM3 C>T	17	6406883	6406883	C	T	PITPNM3	c.238G>A	NM_031220.4	NP_112497.2:p.(Ala80Thr)	NC_000017.10:g.6406883C>T	(Likely) benign	1 lab	fe1de1d87b
7:107594017 LAMB1 G>A	7	107594017	107594017	G	A	LAMB1	c.3037C>T	NM_002291.2	NP_002282.2:p.(Arg1013Trp)	NC_000007.13:g.107594017G>A	VUS	1 lab	934b8e0a11
16:69725885 NFAT5 C>T	16	69725885	69725885	C	T	NFAT5	c.1875C>T	NM_138714.3	NP_619728.2:p.(Ser625=)	NC_000016.9:g.69725885C>T	(Likely) benign	1 lab	934c38a986
5:151234746 GLRA1 G>A	5	151234746	151234746	G	A	GLRA1	c.560-8C>T	NM_001146040.1	NP_001139512.1:p.?	NC_000005.9:g.151234746G>A	(Likely) benign	1 lab	93509f0143
2:202496852 TMEM237 T>C	2	202496852	202496852	T	C	TMEM237	c.451A>G	NM_152388.3	NP_689601.2:p.(Thr151Ala)	NC_000002.11:g.202496852T>C	(Likely) benign	1 lab	93528b87c7
X:48979928 GPKOW A>G	X	48979928	48979928	A	G	GPKOW	c.145T>C	NM_015698.5	NP_056513.2:p.(Leu49=)	NC_000023.10:g.48979928A>G	(Likely) benign	1 lab	9352a63e78
X:40458873 ATP6AP2 T>A	X	40458873	40458873	T	A	ATP6AP2	c.618T>A	NM_005765.2	NP_005756.2:p.(Asp206Glu)	NC_000023.10:g.40458873T>A	VUS	1 lab	9355ac751b
2:179411203 TTN G>A	2	179411203	179411203	G	A	TTN	c.94855C>T	NM_001267550.1	NP_001254479.1:p.(Arg31619Ter)	NC_000002.11:g.179411203G>A	(Likely) pathogenic	1 lab	9356488d32
12:106532334 NUAK1 G>C	12	106532334	106532334	G	C	NUAK1	c.98C>G	NM_014840.2	NP_055655.1:p.(Ala33Gly)	NC_000012.11:g.106532334G>C	(Likely) benign	1 lab	9356fee6be
5:127609645 FBN2 C>A	5	127609645	127609645	C	A	FBN2	c.7727G>T	NM_001999.3	NP_001990.2:p.(Gly2576Val)	NC_000005.9:g.127609645C>A	VUS	1 lab	935883ad17
5:35857177 IL7R G>C	5	35857177	35857177	G	C	IL7R	c.82+16G>C	NM_002185.5	NP_002176.2:p.?	NC_000005.9:g.35857177G>C	(Likely) benign	1 lab	fe2490e373
1:112322932 KCND3 G>A	1	112322932	112322932	G	A	KCND3	c.1376C>T	NM_004980.5	NP_004971.2:p.(Thr459Ile)	NC_000001.10:g.112322932G>A	VUS	1 lab	fe24c569ab
11:8111689 TUB G>A	11	8111689	8111689	G	A	TUB	c.329G>A	NM_003320.4	NP_003311.2:p.(Arg110Gln)	NC_000011.9:g.8111689G>A	VUS	1 lab	935c2da96a
19:12918016 RNASEH2A CCAGACT>C	19	12918016	12918024	CCAGACT	C	RNASEH2A	c.200-1_204del	NM_006397.3	NP_006388.2:p.?	NC_000019.9:g.12918019_12918024del	VUS	1 lab	935ca1c47e
4:88536923 DSPP A>T	4	88536923	88536923	A	T	DSPP	c.3109A>T	NM_014208.3	NP_055023.2:p.(Ser1037Cys)	NC_000004.11:g.88536923A>T	(Likely) benign	1 lab	935d2714db
18:31523144 NOL4 TA>T	18	31523144	31523155	TA	T	NOL4	c.1429-3del	NM_003787.5	NP_003778.2:p.?	NC_000018.9:g.31523155del	(Likely) benign	1 lab	935d8e81c3
12:40631781 LRRK2 C>G	12	40631781	40631781	C	G	LRRK2	c.447C>G	NM_198578.3	NP_940980.3:p.(Thr149=)	NC_000012.11:g.40631781C>G	(Likely) benign	1 lab	935e403ce8
15:38793479 RASGRP1 G>A	15	38793479	38793479	G	A	RASGRP1	c.1548C>T	NM_005739.3	NP_005730.2:p.(Leu516=)	NC_000015.9:g.38793479G>A	(Likely) benign	1 lab	935e5ff927
3:47059239 SETD2 G>A	3	47059239	47059239	G	A	SETD2	c.7432-10C>T	NM_014159.6	NP_054878.5:p.?	NC_000003.11:g.47059239G>A	(Likely) benign	1 lab	935f20206b
17:6381406 PITPNM3 G>A	17	6381406	6381406	G	A	PITPNM3	c.789C>T	NM_031220.3	NP_112497.2:p.(Ile263=)	NC_000017.10:g.6381406G>A	(Likely) benign	1 lab	93600289de
3:183695381 ABCC5 A>G	3	183695381	183695381	A	G	ABCC5	c.1328T>C	NM_005688.3	NP_005679.2:p.(Met443Thr)	NC_000003.11:g.183695381A>G	VUS	1 lab	93635ab315
X:112022587 AMOT G>A	X	112022587	112022587	G	A	AMOT	c.2795C>T	NM_001113490.1	NP_001106962.1:p.(Ala932Val)	NC_000023.10:g.112022587G>A	VUS	1 lab	9363bd536e
12:80690614 OTOGL A>G	12	80690614	80690614	A	G	OTOGL	c.2909A>G	NM_173591.3	NP_775862.3:p.(Asp970Gly)	NC_000012.11:g.80690614A>G	VUS	1 lab	9364c70edd
3:4732944 ITPR1 T>C	3	4732944	4732944	T	C	ITPR1	c.3900T>C	NM_001168272.1	NP_001161744.1:p.(Asn1300=)	NC_000003.11:g.4732944T>C	(Likely) benign	1 lab	9364e4d108
9:80866891 CEP78 C>G	9	80866891	80866891	C	G	CEP78	c.1137C>G	NM_001330691.2	NP_001317620.1:p.(Pro379=)	NC_000009.11:g.80866891C>G	(Likely) benign	1 lab	93672cae9d
X:152954118 SLC6A8 C>T	X	152954118	152954118	C	T	SLC6A8	c.89C>T	NM_005629.3	NP_005620.1:p.(Ala30Val)	NC_000023.10:g.152954118C>T	(Likely) benign	1 lab	936b7a4e78
X:102337258 NXF3 C>T	X	102337258	102337258	C	T	NXF3	c.815G>A	NM_022052.1	NP_071335.1:p.(Gly272Glu)	NC_000023.10:g.102337258C>T	(Likely) benign	1 lab	936c04f0c7
15:49030951 CEP152 T>C	15	49030951	49030951	T	C	CEP152	c.4628A>G	NM_001194998.1	NP_001181927.1:p.(Glu1543Gly)	NC_000015.9:g.49030951T>C	(Likely) benign	1 lab	936cc8149b
14:31626474 HECTD1 T>C	14	31626474	31626474	T	C	HECTD1	c.1658A>G	NM_015382.4	NP_056197.3:p.(His553Arg)	NC_000014.8:g.31626474T>C	VUS	1 lab	936eb7207f
5:126113229 LMNB1 G>T	5	126113229	126113229	G	T	LMNB1	c.29G>T	NM_005573.3	NP_005564.1:p.(Arg10Leu)	NC_000005.9:g.126113229G>T	(Likely) benign	1 lab	936f7183b5
3:48508346 TREX1 C>CA	3	48508346	48508348	C	CA	TREX1	c.264dup	NM_007248.4	NP_009179.2:p.(Cys89MetfsTer3)	NC_000003.11:g.48508348dup	(Likely) pathogenic	1 lab	9370f0ee04
X:66942731 AR GA>G	X	66942731	66942733	GA	G	AR	c.2514del	NM_000044.6	NP_000035.2:p.(Glu838AspfsTer45)	NC_000023.10:g.66942733del	(Likely) pathogenic	1 lab	9373daae20
1:46657986 POMGNT1 C>T	1	46657986	46657986	C	T	POMGNT1	c.1407G>A	NM_017739.3	NP_060209.3:p.(Pro469=)	NC_000001.10:g.46657986C>T	(Likely) benign	1 lab	93740a83b4
9:99017145 HSD17B3 C>T	9	99017145	99017145	C	T	HSD17B3	c.277+5G>A	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99017145C>T	VUS	1 lab	c66c1baf20
7:86521107 ELAPOR2 T>A	7	86521107	86521107	T	A	ELAPOR2	c.2963A>T	NM_001142749.3	NP_001136221.1:p.(Asn988Ile)	NC_000007.13:g.86521107T>A	VUS	1 lab	93743d7d60
15:57535707 TCF12 C>G	15	57535707	57535707	C	G	TCF12	c.1073C>G	NM_207037.1	NP_996920.1:p.(Ser358Ter)	NC_000015.9:g.57535707C>G	(Likely) pathogenic	1 lab	9374e4b5ae
11:47355451 MYBPC3 C>T	11	47355451	47355451	C	T	MYBPC3	c.2994+22G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355451C>T	(Likely) benign	1 lab	9376241894
2:170083022 LRP2 A>G	2	170083022	170083022	A	G	LRP2	c.5304T>C	NM_004525.3	NP_004516.2:p.(Asn1768=)	NC_000002.11:g.170083022A>G	(Likely) benign	1 lab	93770f1e16
16:50750505 NOD2 G>A	16	50750505	50750505	G	A	NOD2	c.2470G>A	NM_022162.1	NP_071445.1:p.(Asp824Asn)	NC_000016.9:g.50750505G>A	(Likely) benign	1 lab	9377c0b1ec
2:152500551 NEB A>C	2	152500551	152500551	A	C	NEB	c.7737T>G	NM_001271208.1	NP_001258137.1:p.(His2579Gln)	NC_000002.11:g.152500551A>C	VUS	1 lab	93785dfa33
17:6328827 AIPL1 G>A	17	6328827	6328827	G	A	AIPL1	c.1108C>T	NM_014336.4	NP_055151.3:p.(Pro370Ser)	NC_000017.10:g.6328827G>A	(Likely) benign	1 lab	9379278cdd
11:108151843 ATM C>T	11	108151843	108151843	C	T	ATM	c.3524C>T	NM_000051.3	NP_000042.3:p.(Ala1175Val)	NC_000011.9:g.108151843C>T	VUS	1 lab	937a7cb187
8:7829493 USP17L8 G>A	8	7829493	7829493	G	A	USP17L8	c.1283C>T	NM_001256872.1	NP_001243801.1:p.(Ala428Val)	NC_000008.10:g.7829493G>A	(Likely) benign	1 lab	937a92b3a9
2:48033273 MSH6 TTTTTG>T	2	48033273	48033282	TTTTTG	T	MSH6	c.3647-65_3647-61del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033278_48033282del	(Likely) benign	1 lab	937dc40a13
16:72993859 ZFHX3 C>T	16	72993859	72993859	C	T	ZFHX3	c.186G>A	NM_006885.3	NP_008816.3:p.(Ala62=)	NC_000016.9:g.72993859C>T	(Likely) benign	1 lab	937e097cab
1:5925291 NPHP4 G>A	1	5925291	5925291	G	A	NPHP4	c.3687C>T	NM_015102.4	NP_055917.1:p.(Tyr1229=)	NC_000001.10:g.5925291G>A	(Likely) benign	1 lab	937e6871ca
9:139409784 NOTCH1 T>C	9	139409784	139409784	T	C	NOTCH1	c.1972A>G	NM_017617.5	NP_060087.3:p.(Lys658Glu)	NC_000009.11:g.139409784T>C	VUS	1 lab	937fe8b10f
6:32084485 ATF6B C>T	6	32084485	32084485	C	T	ATF6B	c.1793G>A	NM_004381.4	NP_004372.3:p.(Arg598Gln)	NC_000006.11:g.32084485C>T	VUS	1 lab	93819a4b5b
X:153002672 ABCD1 A>C	X	153002672	153002672	A	C	ABCD1	c.1455A>C	NM_000033.3	NP_000024.2:p.(Ser485=)	NC_000023.10:g.153002672A>C	VUS	1 lab	9381b24938
6:24302087 DCDC2 G>A	6	24302087	24302087	G	A	DCDC2	c.426-13C>T	NM_016356.5	NP_057440.2:p.?	NC_000006.11:g.24302087G>A	(Likely) benign	1 lab	fe2b8d5bb4
X:47106603 USP11 C>T	X	47106603	47106603	C	T	USP11	c.2532C>T	NM_004651.3	NP_004642.2:p.(Leu844=)	NC_000023.10:g.47106603C>T	(Likely) benign	1 lab	9384321567
5:112174884 APC C>G	5	112174884	112174884	C	G	APC				NC_000005.9:g.112174884C>G	(Likely) pathogenic	1 lab	938445e4f9
16:9934623 GRIN2A G>A	16	9934623	9934623	G	A	GRIN2A				NC_000016.9:g.9934623G>A	VUS	1 lab	05f229eaa9
10:43654185 CSGALNACT2 T>G	10	43654185	43654185	T	G	CSGALNACT2	c.684T>G	NM_018590.5	NP_061060.3:p.(Asp228Glu)	NC_000010.10:g.43654185T>G	VUS	1 lab	9384a8afbf
12:111779638 CUX2 C>T	12	111779638	111779638	C	T	CUX2	c.3440C>T	NM_015267.3	NP_056082.2:p.(Pro1147Leu)	NC_000012.11:g.111779638C>T	VUS	1 lab	938512b68f
10:99190283 PGAM1 C>A	10	99190283	99190283	C	A	PGAM1	c.287C>A	NM_002629.4	NP_002620.1:p.(Thr96Asn)	NC_000010.10:g.99190283C>A	VUS	1 lab	fe305d489d
16:20996868 DNAH3 ATGT>A	16	20996868	20996876	ATGT	A	DNAH3	c.7055_7057del	NM_001347886.2	NP_001334815.1:p.(Asn2352del)	NC_000016.9:g.20996874_20996876del	VUS	1 lab	9385ce090d
16:88502504 ZNF469 C>T	16	88502504	88502504	C	T	ZNF469				NC_000016.9:g.88502504C>T	VUS	1 lab	9386643092
9:139914893 ABCA2 C>T	9	139914893	139914893	C	T	ABCA2	c.1410G>A	NM_212533.2	NP_997698.1:p.(Thr470=)	NC_000009.11:g.139914893C>T	(Likely) benign	1 lab	938675d96f
1:203015440 PPFIA4 C>T	1	203015440	203015440	C	T	PPFIA4	c.1070C>T	NM_001304331.1	NP_001291260.1:p.(Thr357Met)	NC_000001.10:g.203015440C>T	VUS	1 lab	938876d8c1
2:179605156 TTN A>C	2	179605156	179605156	A	C	TTN	c.12804T>G	NM_001267550.2	NP_001254479.2:p.(Ala4268=)	NC_000002.11:g.179605156A>C	(Likely) benign	1 lab	fe33afe168
1:236891027 ACTN2 G>A	1	236891027	236891027	G	A	ACTN2	c.586G>A	NM_001103.3	NP_001094.1:p.(Asp196Asn)	NC_000001.10:g.236891027G>A	VUS	1 lab	9388aa30d2
22:41970835 CSDC2 T>C	22	41970835	41970835	T	C	CSDC2	c.398T>C	NM_014460.4	NP_055275.1:p.(Val133Ala)	NC_000022.10:g.41970835T>C	VUS	1 lab	9389f58b5c
1:160323927 NCSTN C>T	1	160323927	160323927	C	T	NCSTN	c.1139C>T	NM_001290184.1	NP_001277113.1:p.(Thr380Ile)	NC_000001.10:g.160323927C>T	(Likely) benign	1 lab	938ab70105
2:73716853 ALMS1 T>C	2	73716853	73716853	T	C	ALMS1	c.7770T>C	NM_015120.4	NP_055935.4:p.(Thr2590=)	NC_000002.11:g.73716853T>C	(Likely) benign	1 lab	938b6d3515
2:179496998 TTN C>T	2	179496998	179496998	C	T	TTN	c.43623G>A	NM_001267550.2	NP_001254479.2:p.(Ser14541=)	NC_000002.11:g.179496998C>T	(Likely) benign	1 lab	fe34092cb8
6:132181553 ENPP1 A>G	6	132181553	132181553	A	G	ENPP1	c.822A>G	NM_006208.3	NP_006199.2:p.(Ile274Met)	NC_000006.11:g.132181553A>G	VUS	1 lab	938c6194bb
5:150922577 FAT2 A>C	5	150922577	150922577	A	C	FAT2	c.8111T>G	NM_001447.2	NP_001438.1:p.(Leu2704Arg)	NC_000005.9:g.150922577A>C	(Likely) benign	1 lab	938cfc408b
8:144943411 EPPK1 A>T	8	144943411	144943411	A	T	EPPK1				NC_000008.10:g.144943411A>T	(Likely) benign	1 lab	938d035db2
10:102770635 PDZD7 G>T	10	102770635	102770635	G	T	PDZD7	c.2011C>A	NM_001195263.1	NP_001182192.1:p.(Arg671Ser)	NC_000010.10:g.102770635G>T	VUS	1 lab	938d67d794
5:131647910 SLC22A4 C>T	5	131647910	131647910	C	T	SLC22A4	c.450C>T	NM_003059.3	NP_003050.2:p.(Phe150=)	NC_000005.9:g.131647910C>T	(Likely) benign	1 lab	938eb144b9
19:2251327 AMH C>T	19	2251327	2251327	C	T	AMH	c.1054C>T	NM_000479.4	NP_000470.2:p.(Pro352Ser)	NC_000019.9:g.2251327C>T	(Likely) benign	1 lab	93908c5476
16:8870208 ABAT G>A	16	8870208	8870208	G	A	ABAT	c.1130G>A	NM_000663.4	NP_000654.2:p.(Arg377Gln)	NC_000016.9:g.8870208G>A	VUS	1 lab	93918c53a3
16:21709177 OTOA C>T	16	21709177	21709177	C	T	OTOA	c.821C>T	NM_144672.4	NP_653273.3:p.(Thr274Met)	NC_000016.9:g.21709177C>T	(Likely) benign	1 lab	93d4add09b
19:15311681 NOTCH3 A>ACGG	19	15311681	15311697	A	ACGG	NOTCH3	c.33_35dup	NM_000435.2	NP_000426.2:p.(Arg13dup)	NC_000019.9:g.15311695_15311697dup	VUS	1 lab	93930d52d7
19:17132911 MISSING C>A	19	17132911	17132911	C	A	MISSING				NC_000019.9:g.17132911C>A	VUS	1 lab	9394286908
X:130215854 ARHGAP36 T>C	X	130215854	130215854	T	C	ARHGAP36	c.215T>C	NM_144967.4	NP_659404.2:p.(Val72Ala)	NC_000023.10:g.130215854T>C	(Likely) benign	1 lab	9395535f4c
5:169532991 FOXI1 C>T	5	169532991	169532991	C	T	FOXI1	c.30C>T	NM_012188.4	NP_036320.2:p.(Ser10=)	NC_000005.9:g.169532991C>T	(Likely) benign	1 lab	9396d748cc
6:152711423 SYNE1 G>A	6	152711423	152711423	G	A	SYNE1	c.8169C>T	NM_182961.3	NP_892006.3:p.(His2723=)	NC_000006.11:g.152711423G>A	(Likely) benign	1 lab	93973c36ff
9:20981684 FOCAD G>A	9	20981684	20981684	G	A	FOCAD	c.4637G>A	NM_017794.4	NP_060264.4:p.(Arg1546Gln)	NC_000009.11:g.20981684G>A	(Likely) benign	1 lab	939781123c
3:16926648 PLCL2 T>G	3	16926648	16926648	T	G	PLCL2	c.110=	NM_001144382.2	NP_001137854.1:p.(Gly37=)	NC_000003.11:g.16926648T>G	(Likely) benign	1 lab	9397a739be
1:24180902 FUCA1 T>C	1	24180902	24180902	T	C	FUCA1	c.917A>G	NM_000147.4	NP_000138.2:p.(Tyr306Cys)	NC_000001.10:g.24180902T>C	VUS	1 lab	9398ea7c4f
16:10989215 CIITA C>T	16	10989215	10989215	C	T	CIITA	c.129C>T	NM_001286402.1	NP_001273331.1:p.(Asp43=)	NC_000016.9:g.10989215C>T	(Likely) benign	1 lab	9398edb2f3
13:23911953 SACS G>A	13	23911953	23911953	G	A	SACS	c.6062C>T	NM_014363.5	NP_055178.3:p.(Ser2021Phe)	NC_000013.10:g.23911953G>A	VUS	1 lab	939945e458
14:91826053 CCDC88C T>C	14	91826053	91826053	T	C	CCDC88C	c.273A>G	NM_001080414.3	NP_001073883.2:p.(Glu91=)	NC_000014.8:g.91826053T>C	(Likely) benign	1 lab	939a203ff6
7:141251240 AGK T>C	7	141251240	141251240	T	C	AGK	c.-15+6T>C	NM_018238.4	NP_060708.1:p.?	NC_000007.13:g.141251240T>C	(Likely) benign	1 lab	939a903d3e
16:3100368 MMP25 A>G	16	3100368	3100368	A	G	MMP25	c.482A>G	NM_022468.5	NP_071913.1:p.(Asp161Gly)	NC_000016.9:g.3100368A>G	VUS	1 lab	cdc220a429
22:21133828 SERPIND1 C>T	22	21133828	21133828	C	T	SERPIND1	c.228C>T	NM_000185.3	NP_000176.2:p.(Asp76=)	NC_000022.10:g.21133828C>T	(Likely) benign	1 lab	939b19cc1d
X:53285198 IQSEC2 A>G	X	53285198	53285198	A	G	IQSEC2	c.783T>C	NM_001111125.2	NP_001104595.1:p.(Asp261=)	NC_000023.10:g.53285198A>G	(Likely) benign	1 lab	939c407cde
22:50665428 TUBGCP6 G>A	22	50665428	50665428	G	A	TUBGCP6	c.1491C>T	NM_020461.3	NP_065194.2:p.(Thr497=)	NC_000022.10:g.50665428G>A	(Likely) benign	1 lab	939c6103c8
10:27822656 RAB18 T>TA	10	27822656	27822657	T	TA	RAB18	c.260-7dup	NM_021252.4	NP_067075.1:p.?	NC_000010.10:g.27822657dup	(Likely) benign	1 lab	939dcff246
1:228550402 OBSCN G>C	1	228550402	228550402	G	C	OBSCN	c.21658G>C	NM_001271223.2	NP_001258152.2:p.(Ala7220Pro)	NC_000001.10:g.228550402G>C	(Likely) benign	1 lab	93a0770fdb
X:43661453 MAOB T>C	X	43661453	43661453	T	C	MAOB	c.442A>G	NM_000898.4	NP_000889.3:p.(Met148Val)	NC_000023.10:g.43661453T>C	(Likely) benign	1 lab	93a26be7a8
17:17700097 RAI1 GC>G	17	17700097	17700099	GC	G	RAI1	c.3837del	NM_030665.4	NP_109590.3:p.(Lys1280SerfsTer35)	NC_000017.10:g.17700099del	(Likely) pathogenic	1 lab	93a2ec3631
X:17743944 NHS A>C	X	17743944	17743944	A	C	NHS	c.1718A>C	NM_001291867.1	NP_001278796.1:p.(Gln573Pro)	NC_000023.10:g.17743944A>C	(Likely) benign	1 lab	93a39df2ab
11:57573960 CTNND1 G>GA	11	57573960	57573961	G	GA	CTNND1	c.1894+10_1894+11insA	NM_001085458.1	NP_001078927.1:p.?	NC_000011.9:g.57573960_57573961insA	(Likely) benign	1 lab	93a3bf28ea
17:7755306 KDM6B C>A	17	7755306	7755306	C	A	KDM6B	c.4203C>A	NM_001080424.2	NP_001073893.1:p.(Ile1401=)	NC_000017.10:g.7755306C>A	(Likely) benign	1 lab	fe381696c4
16:87417346 FBXO31 G>A	16	87417346	87417346	G	A	FBXO31	c.5C>T	NM_024735.4	NP_079011.3:p.(Ala2Val)	NC_000016.9:g.87417346G>A	VUS	1 lab	93a5c3323d
14:88431955 GALC T>G	14	88431955	88431955	T	G	GALC	c.927A>C	NM_000153.3	NP_000144.2:p.(Leu309Phe)	NC_000014.8:g.88431955T>G	VUS	1 lab	93d60edc36
7:1538644 INTS1 C>T	7	1538644	1538644	C	T	INTS1	c.1104G>A	NM_001080453.3	NP_001073922.2:p.(Val368=)	NC_000007.13:g.1538644C>T	(Likely) benign	1 lab	93a674ffab
14:21780642 RPGRIP1 C>A	14	21780642	21780642	C	A	RPGRIP1	c.1128C>A	NM_020366.3	NP_065099.3:p.(Asp376Glu)	NC_000014.8:g.21780642C>A	(Likely) benign	1 lab	93a8516926
11:293593 PGGHG G>GGA	11	293593	293598	G	GGA	PGGHG	c.1484_1485dup	NM_025092.4	NP_079368.3:p.(Val496ArgfsTer3)	NC_000011.9:g.293597_293598dup	VUS	1 lab	93a8a410c4
X:32563446 DMD T>A	X	32563446	32563446	T	A	DMD	c.1629A>T	NM_004010.3	NP_004001.1:p.(Ser543=)	NC_000023.10:g.32563446T>A	(Likely) benign	1 lab	93ab7e6b2f
1:161483698 FCGR2A T>A	1	161483698	161483698	T	A	FCGR2A	c.756T>A	NM_001136219.1	NP_001129691.1:p.(Asp252Glu)	NC_000001.10:g.161483698T>A	(Likely) benign	1 lab	93abf42f3c
14:88448525 GALC A>G	14	88448525	88448525	A	G	GALC	c.621+24T>C	NM_000153.3	NP_000144.2:p.?	NC_000014.8:g.88448525A>G	(Likely) benign	1 lab	93ac0ed49e
12:91449729 KERA G>A	12	91449729	91449729	G	A	KERA	c.330C>T	NM_007035.3	NP_008966.1:p.(Tyr110=)	NC_000012.11:g.91449729G>A	(Likely) benign	1 lab	93acd5fbb5
3:178917673 PIK3CA A>G	3	178917673	178917673	A	G	PIK3CA	c.548A>G	NM_006218.2	NP_006209.2:p.(Asn183Ser)	NC_000003.11:g.178917673A>G	(Likely) benign	1 lab	93ad75d852
3:43607224 ANO10 C>CAA	3	43607224	43607242	C	CAA	ANO10	c.1219-7_1219-6dup	NM_001204831.2	NP_001191760.1:p.?	NC_000003.11:g.43607241_43607242dup	(Likely) benign	1 lab	93af0607b2
14:74156229 DNAL1 C>T	14	74156229	74156229	C	T	DNAL1	c.532+11C>T	NM_031427.3	NP_113615.2:p.?	NC_000014.8:g.74156229C>T	(Likely) benign	1 lab	d801b818a2
1:150049166 VPS45 A>C	1	150049166	150049166	A	C	VPS45	c.331-6A>C	NM_001279354.1	NP_001266283.1:p.?	NC_000001.10:g.150049166A>C	(Likely) benign	1 lab	93b066b60c
19:38126913 ZFP30 G>C	19	38126913	38126913	G	C	ZFP30	c.529C>G	NM_001320666.2	NP_001307595.1:p.(Gln177Glu)	NC_000019.9:g.38126913G>C	VUS	1 lab	93b07bcadb
1:183559353 NCF2 G>A	1	183559353	183559353	G	A	NCF2	c.112C>T	NM_000433.3	NP_000424.2:p.(Arg38Trp)	NC_000001.10:g.183559353G>A	VUS	1 lab	93b0f2a765
14:23282249 SLC7A7 A>T	14	23282249	23282249	A	T	SLC7A7	c.359T>A	NM_001126106.2	NP_001119578.1:p.(Leu120His)	NC_000014.8:g.23282249A>T	VUS	1 lab	93b1e87929
4:186353164 CFAP96 T>C	4	186353164	186353164	T	C	CFAP96	c.129T>C	NM_001114357.2	NP_001107829.1:p.(Asn43=)	NC_000004.11:g.186353164T>C	(Likely) benign	1 lab	93b2921dc7
2:179598262 TTN A>G	2	179598262	179598262	A	G	TTN	c.15776-18T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179598262A>G	(Likely) benign	1 lab	93b3f6d9b6
X:122805523 THOC2 T>A	X	122805523	122805523	T	A	THOC2	c.858A>T	NM_001081550.1	NP_001075019.1:p.(Val286=)	NC_000023.10:g.122805523T>A	(Likely) benign	1 lab	93b4e0919c
17:5418257 NLRP1 G>A	17	5418257	5418257	G	A	NLRP1	c.4239C>T	NM_033004.4	NP_127497.1:p.(Tyr1413=)	NC_000017.10:g.5418257G>A	(Likely) benign	1 lab	93b78c2a07
3:170725027 SLC2A2 C>CACCG	3	170725027	170725029	C	CACCG	SLC2A2	c.521_522insCGGT	NM_000340.1	NP_000331.1:p.(Met174IlefsTer6)	NC_000003.11:g.170725028_170725029insCCGA	(Likely) pathogenic	1 lab	93b8a473cb
5:153432891 MFAP3 C>A	5	153432891	153432891	C	A	MFAP3	c.707C>A	NM_001242336.1	NP_001229265.1:p.(Ala236Glu)	NC_000005.9:g.153432891C>A	VUS	1 lab	93bb2876b6
16:3706661 DNASE1 G>C	16	3706661	3706661	G	C	DNASE1	c.343G>C	NM_005223.3	NP_005214.2:p.(Asp115His)	NC_000016.9:g.3706661G>C	VUS	1 lab	93bc33159f
1:216405435 USH2A G>A	1	216405435	216405435	G	A	USH2A	c.2853C>T	NM_206933.2	NP_996816.2:p.(Cys951=)	NC_000001.10:g.216405435G>A	(Likely) benign	1 lab	93bf66e392
1:237527669 RYR2 GAAGGT>G	1	237527669	237527677	GAAGGT	G	RYR2	c.309+1_309+5del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237527673_237527677del	VUS	1 lab	93bfeaa59c
13:20797003 GJB6 T>G	13	20797003	20797003	T	G	GJB6	c.617A>C	NM_006783.5	NP_006774.2:p.(Asn206Thr)	NC_000013.10:g.20797003T>G	VUS	1 lab	fe3e06ffa2
6:45922922 CLIC5 G>T	6	45922922	45922922	G	T	CLIC5	c.600C>A	NM_001114086.1	NP_001107558.1:p.(Ile200=)	NC_000006.11:g.45922922G>T	(Likely) benign	1 lab	93c082f65c
21:47860089 PCNT G>A	21	47860089	47860089	G	A	PCNT	c.9367G>A	NM_006031.5	NP_006022.3:p.(Glu3123Lys)	NC_000021.8:g.47860089G>A	(Likely) benign	1 lab	93c3b2488e
16:17294381 XYLT1 G>A	16	17294381	17294381	G	A	XYLT1	c.1044C>T	NM_022166.3	NP_071449.1:p.(Ala348=)	NC_000016.9:g.17294381G>A	(Likely) benign	1 lab	93c4dac20b
7:77764376 MAGI2 G>A	7	77764376	77764376	G	A	MAGI2	c.2993C>T	NM_012301.3	NP_036433.2:p.(Ala998Val)	NC_000007.13:g.77764376G>A	VUS	1 lab	93c4ea7b80
11:78413326 TENM4 C>T	11	78413326	78413326	C	T	TENM4	c.4332G>A	NM_001098816.2	NP_001092286.2:p.(Arg1444=)	NC_000011.9:g.78413326C>T	(Likely) benign	1 lab	93c55bf651
2:220289644 DES G>A	2	220289644	220289644	G	A	DES	c.1289-741G>A	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220289644G>A	(Likely) pathogenic	1 lab	fe408af5cf
3:123419734 MYLK G>T	3	123419734	123419734	G	T	MYLK	c.2581C>A	NM_053025.3	NP_444253.3:p.(Leu861Ile)	NC_000003.11:g.123419734G>T	(Likely) benign	1 lab	93c7b7d747
2:25965594 ASXL2 A>C	2	25965594	25965594	A	C	ASXL2	c.3612T>G	NM_018263.5	NP_060733.4:p.(Ser1204Arg)	NC_000002.11:g.25965594A>C	(Likely) benign	1 lab	93c817b2f0
16:2126173 TSC2 T>C	16	2126173	2126173	T	C	TSC2	c.2742+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126173T>C	(Likely) pathogenic	1 lab	d8d94fde0f
19:11685943 ACP5 T>G	19	11685943	11685943	T	G	ACP5	c.860A>C	NM_001111035.2	NP_001104505.1:p.(Asp287Ala)	NC_000019.9:g.11685943T>G	(Likely) benign	1 lab	93c85a0097
5:176639218 NSD1 A>T	5	176639218	176639218	A	T	NSD1	c.3796+22A>T	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176639218A>T	(Likely) benign	1 lab	93c8b0ffbe
22:38369720 SOX10 T>C	22	38369720	38369720	T	C	SOX10	c.1183A>G	NM_006941.3	NP_008872.1:p.(Ile395Val)	NC_000022.10:g.38369720T>C	VUS	1 lab	93c94f7251
5:1254579 TERT A>C	5	1254579	1254579	A	C	TERT	c.3199T>G	NM_198253.2	NP_937983.2:p.(Ser1067Ala)	NC_000005.9:g.1254579A>C	VUS	1 lab	93c9dcb03f
19:46271520 SIX5 G>A	19	46271520	46271520	G	A	SIX5	c.583C>T	NM_175875.4	NP_787071.2:p.(Pro195Ser)	NC_000019.9:g.46271520G>A	VUS	1 lab	93ca1d146a
1:160319390 NCSTN A>C	1	160319390	160319390	A	C	NCSTN	c.306A>C	NM_001290184.1	NP_001277113.1:p.(Ala102=)	NC_000001.10:g.160319390A>C	(Likely) benign	1 lab	93ca5cdb7a
X:7811978 VCX A>C	X	7811978	7811978	A	C	VCX	c.542A>C	NM_013452.2	NP_038480.2:p.(Glu181Ala)	NC_000023.10:g.7811978A>C	(Likely) benign	1 lab	93cc4e776e
X:48419258 TBC1D25 C>G	X	48419258	48419258	C	G	TBC1D25	c.1788C>G	NM_001348265.1	NP_001335194.1:p.(His596Gln)	NC_000023.10:g.48419258C>G	(Likely) benign	1 lab	93cc5fffd5
3:193332661 OPA1 A>G	3	193332661	193332661	A	G	OPA1	c.182A>G	NM_130837.2	NP_570850.2:p.(Gln61Arg)	NC_000003.11:g.193332661A>G	(Likely) benign	1 lab	93cea9fb40
9:117166182 WHRN G>A	9	117166182	117166182	G	A	WHRN	c.2412C>T	NM_015404.3	NP_056219.3:p.(Asn804=)	NC_000009.11:g.117166182G>A	(Likely) benign	1 lab	93cee6357d
6:152671873 SYNE1 T>C	6	152671873	152671873	T	C	SYNE1	c.11613A>G	NM_182961.3	NP_892006.3:p.(Pro3871=)	NC_000006.11:g.152671873T>C	(Likely) benign	1 lab	93d1f133ca
5:6600133 NSUN2 C>G	5	6600133	6600133	C	G	NSUN2	c.2210G>C	NM_017755.5	NP_060225.4:p.(Arg737Thr)	NC_000005.9:g.6600133C>G	(Likely) benign	1 lab	93d3972e19
19:12386866 ZNF44 TTC>T	19	12386866	12386868	TTC	T	ZNF44	c.33_34del	NM_016264.4	NP_057348.3:p.(Asn12LeufsTer4)	NC_000019.9:g.12386867_12386868del	VUS	1 lab	93d8d9079d
12:109940955 UBE3B G>A	12	109940955	109940955	G	A	UBE3B	c.1410G>A	NM_130466.3	NP_569733.2:p.(Ser470=)	NC_000012.11:g.109940955G>A	(Likely) benign	1 lab	93db4a50de
16:67203685 HSF4 C>A	16	67203685	67203685	C	A	HSF4	c.1476C>A	NM_001040667.2	NP_001035757.1:p.(Pro492=)	NC_000016.9:g.67203685C>A	(Likely) benign	1 lab	93db8cf01d
22:51065145 ARSA C>T	22	51065145	51065145	C	T	ARSA	c.728G>A	NM_000487.5	NP_000478.3:p.(Arg243His)	NC_000022.10:g.51065145C>T	(Likely) benign	1 lab	93dbe41105
9:136218788 SURF1 G>A	9	136218788	136218788	G	A	SURF1	c.883C>T	NM_003172.3	NP_003163.1:p.(Arg295Cys)	NC_000009.11:g.136218788G>A	(Likely) benign	1 lab	93dc44a613
19:54403925 PRKCG T>C	19	54403925	54403925	T	C	PRKCG	c.1497T>C	NM_002739.3	NP_002730.1:p.(Phe499=)	NC_000019.9:g.54403925T>C	(Likely) benign	1 lab	93dd7ff28b
13:25487087 CPAP C>CCAGCCG	13	25487087	25487088	C	CCAGCCG	CPAP	c.76_77insCGGCTG	NM_018451.4	NP_060921.3:p.(Arg26delinsProAlaGly)	NC_000013.10:g.25487087_25487088insCAGCCG	VUS	1 lab	93ddbe0990
14:58965594 KIAA0586 A>T	14	58965594	58965594	A	T	KIAA0586	c.4084A>T	NM_001329943.2	NP_001316872.1:p.(Met1362Leu)	NC_000014.8:g.58965594A>T	VUS	1 lab	93de62d85a
9:134395553 POMT1 T>C	9	134395553	134395553	T	C	POMT1	c.1575T>C	NM_001353198.1	NP_001340127.1:p.(Ile525=)	NC_000009.11:g.134395553T>C	(Likely) benign	1 lab	93df6c04f0
3:12660096 RAF1 G>A	3	12660096	12660096	G	A	RAF1	c.125C>T	NM_002880.3	NP_002871.1:p.(Ala42Val)	NC_000003.11:g.12660096G>A	(Likely) benign	1 lab	93e833df8a
2:186629263 FSIP2 C>A	2	186629263	186629263	C	A	FSIP2	c.1382C>A	NM_173651.3	NP_775922.3:p.(Thr461Asn)	NC_000002.11:g.186629263C>A	(Likely) benign	1 lab	93e0563ee6
17:29701048 NF1 G>A	17	29701048	29701048	G	A	NF1	c.8332G>A	NM_000267.3	NP_000258.1:p.(Val2778Ile)	NC_000017.10:g.29701048G>A	(Likely) benign	1 lab	fe4c44d58e
6:152674898 SYNE1 G>A	6	152674898	152674898	G	A	SYNE1	c.10927-19C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152674898G>A	(Likely) benign	1 lab	93e1985e3c
19:44055786 XRCC1 C>T	19	44055786	44055786	C	T	XRCC1	c.1136G>A	NM_006297.2	NP_006288.2:p.(Arg379His)	NC_000019.9:g.44055786C>T	VUS	1 lab	93e1d0e3df
11:94179016 MRE11 CTT>C	11	94179016	94179019	CTT	C	MRE11	c.1825_1826del	NM_005591.4	NP_005582.1:p.(Lys609AspfsTer7)	NC_000011.9:g.94179018_94179019del	(Likely) pathogenic	1 lab	93e27a213b
19:11106941 SMARCA4 G>T	19	11106941	11106941	G	T	SMARCA4	c.1646G>T	NM_001128844.1	NP_001122316.1:p.(Arg549Leu)	NC_000019.9:g.11106941G>T	VUS	1 lab	93e2d70885
1:97915746 DPYD G>A	1	97915746	97915746	G	A	DPYD	c.1774C>T	NM_000110.3	NP_000101.2:p.(Arg592Trp)	NC_000001.10:g.97915746G>A	VUS	1 lab	93e36981ac
X:129148220 BCORL1 C>T	X	129148220	129148220	C	T	BCORL1	c.1472C>T	NM_001184772.2	NP_001171701.1:p.(Pro491Leu)	NC_000023.10:g.129148220C>T	VUS	1 lab	93e5cf38e3
15:28366571 HERC2 G>A	15	28366571	28366571	G	A	HERC2	c.13193C>T	NM_004667.5	NP_004658.3:p.(Ala4398Val)	NC_000015.9:g.28366571G>A	VUS	1 lab	93e6e82078
3:122340310 PARP15 T>G	3	122340310	122340310	T	G	PARP15	c.1083T>G	NM_001113523.3	NP_001106995.1:p.(Asp361Glu)	NC_000003.11:g.122340310T>G	(Likely) benign	1 lab	93e799a41b
2:145156499 ZEB2 G>A	2	145156499	145156499	G	A	ZEB2	c.2255C>T	NM_014795.3	NP_055610.1:p.(Thr752Met)	NC_000002.11:g.145156499G>A	VUS	1 lab	93e7f302db
3:48630706 COL7A1 C>T	3	48630706	48630706	C	T	COL7A1	c.521-10G>A	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48630706C>T	(Likely) benign	1 lab	93ea6a0fa6
12:88514057 CEP290 A>C	12	88514057	88514057	A	C	CEP290	c.1360-4T>G	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88514057A>C	(Likely) benign	1 lab	93ea7e1ef1
X:24830867 POLA1 C>T	X	24830867	24830867	C	T	POLA1	c.3165C>T	NM_016937.3	NP_058633.2:p.(Tyr1055=)	NC_000023.10:g.24830867C>T	(Likely) benign	1 lab	93eaf5ce5c
X:109924823 CHRDL1 G>A	X	109924823	109924823	G	A	CHRDL1	c.1043C>T	NM_001143981.1	NP_001137453.1:p.(Thr348Met)	NC_000023.10:g.109924823G>A	VUS	1 lab	93ecadcc95
8:141554302 AGO2 T>C	8	141554302	141554302	T	C	AGO2	c.1839+10A>G	NM_012154.5	NP_036286.2:p.?	NC_000008.10:g.141554302T>C	(Likely) benign	1 lab	93edefc8d7
15:66996249 SMAD6 A>T	15	66996249	66996249	A	T	SMAD6	c.653A>T	NM_005585.4	NP_005576.3:p.(Gln218Leu)	NC_000015.9:g.66996249A>T	VUS	1 lab	93f0718193
2:200245245 SATB2 C>G	2	200245245	200245245	C	G	SATB2	c.474-35G>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200245245C>G	(Likely) benign	1 lab	93f0e5eeec
9:136523560 DBH C>T	9	136523560	136523560	C	T	DBH	c.1845C>T	NM_000787.3	NP_000778.3:p.(Gly615=)	NC_000009.11:g.136523560C>T	(Likely) benign	1 lab	93f119da50
12:53189643 KRT3 C>T	12	53189643	53189643	C	T	KRT3	c.184G>A	NM_057088.2	NP_476429.2:p.(Gly62Ser)	NC_000012.11:g.53189643C>T	VUS	1 lab	93f21c4262
1:100379128 AGL A>C	1	100379128	100379128	A	C	AGL	c.3995A>C	NM_000028.2	NP_000019.2:p.(Gln1332Pro)	NC_000001.10:g.100379128A>C	VUS	1 lab	93f30deb94
11:64112393 CCDC88B C>T	11	64112393	64112393	C	T	CCDC88B	c.2380C>T	NM_032251.6	NP_115627.6:p.(Arg794Trp)	NC_000011.9:g.64112393C>T	VUS	1 lab	93f4242858
12:52867063 KRT6C G>A	12	52867063	52867063	G	A	KRT6C	c.459C>T	NM_173086.5	NP_775109.2:p.(Asp153=)	NC_000012.11:g.52867063G>A	(Likely) benign	1 lab	fe4e69276a
17:15928346 TTC19 A>G	17	15928346	15928346	A	G	TTC19	c.371A>G	NM_001271420.1	NP_001258349.1:p.(Asn124Ser)	NC_000017.10:g.15928346A>G	(Likely) benign	1 lab	93f533a260
X:108902667 ACSL4 C>T	X	108902667	108902667	C	T	ACSL4	c.1894G>A	NM_022977.2	NP_075266.1:p.(Val632Ile)	NC_000023.10:g.108902667C>T	(Likely) benign	1 lab	93f68644a9
1:240371418 FMN2 A>T	1	240371418	240371418	A	T	FMN2	c.3306A>T	NM_020066.5	NP_064450.3:p.(Leu1102=)	NC_000001.10:g.240371418A>T	(Likely) benign	1 lab	93f7a99a51
14:105411342 AHNAK2 G>T	14	105411342	105411342	G	T	AHNAK2	c.10446C>A	NM_138420.3	NP_612429.2:p.(Ser3482=)	NC_000014.8:g.105411342G>T	(Likely) benign	1 lab	93f8736f11
4:114262864 ANK2 G>A	4	114262864	114262864	G	A	ANK2	c.3914G>A	NM_001148.4	NP_001139.3:p.(Arg1305Gln)	NC_000004.11:g.114262864G>A	VUS	1 lab	93fea907ce
2:72360211 CYP26B1 G>A	2	72360211	72360211	G	A	CYP26B1	c.1087C>T	NM_019885.3	NP_063938.1:p.(Arg363Cys)	NC_000002.11:g.72360211G>A	VUS	1 lab	93fef01415
X:153595172 FLNA A>G	X	153595172	153595172	A	G	FLNA	c.915T>C	NM_001110556.2	NP_001104026.1:p.(Thr305=)	NC_000023.10:g.153595172A>G	(Likely) benign	1 lab	93fef5920c
5:176710827 NSD1 C>T	5	176710827	176710827	C	T	NSD1	c.6049C>T	NM_022455.4	NP_071900.2:p.(Arg2017Trp)	NC_000005.9:g.176710827C>T	(Likely) pathogenic	1 lab	93ff300241
6:152576862 SYNE1 T>C	6	152576862	152576862	T	C	SYNE1	c.19124A>G	NM_182961.3	NP_892006.3:p.(Gln6375Arg)	NC_000006.11:g.152576862T>C	(Likely) benign	1 lab	9400727074
X:115590038 SLC6A14 G>A	X	115590038	115590038	G	A	SLC6A14	c.1846G>A	NM_007231.4	NP_009162.1:p.(Glu616Lys)	NC_000023.10:g.115590038G>A	(Likely) benign	1 lab	9402635806
9:139329284 INPP5E C>T	9	139329284	139329284	C	T	INPP5E	c.844G>A	NM_019892.6	NP_063945.2:p.(Gly282Arg)	NC_000009.11:g.139329284C>T	VUS	1 lab	fe56424d97
19:13220591 TRMT1 G>A	19	13220591	13220591	G	A	TRMT1	c.1168C>T	NM_017722.4	NP_060192.1:p.(Arg390Ter)	NC_000019.9:g.13220591G>A	(Likely) pathogenic	1 lab	9403c2028e
X:34148543 FAM47A A>T	X	34148543	34148543	A	T	FAM47A	c.1853T>A	NM_203408.3	NP_981953.2:p.(Leu618Gln)	NC_000023.10:g.34148543A>T	VUS	1 lab	94059dc053
6:107531648 PDSS2 C>T	6	107531648	107531648	C	T	PDSS2	c.1003G>A	NM_020381.3	NP_065114.3:p.(Gly335Arg)	NC_000006.11:g.107531648C>T	(Likely) benign	1 lab	9405cab93a
1:158619725 SPTA1 G>A	1	158619725	158619725	G	A	SPTA1	c.3490C>T	NM_003126.3	NP_003117.2:p.(Arg1164Cys)	NC_000001.10:g.158619725G>A	VUS	1 lab	9405e83fcb
11:130029907 ST14 G>A	11	130029907	130029907	G	A	ST14	c.33G>A	NM_021978.3	NP_068813.1:p.(Gly11=)	NC_000011.9:g.130029907G>A	(Likely) benign	1 lab	94072705e8
X:128599623 SMARCA1 T>C	X	128599623	128599623	T	C	SMARCA1	c.2904A>G	NM_003069.4	NP_003060.2:p.(Arg968=)	NC_000023.10:g.128599623T>C	(Likely) benign	1 lab	9408774f41
11:74554999 XRRA1 C>G	11	74554999	74554999	C	G	XRRA1	c.2025G>C	NM_182969.2	NP_892014.1:p.(Gln675His)	NC_000011.9:g.74554999C>G	(Likely) benign	1 lab	9408e24f51
19:54394983 PRKCG T>C	19	54394983	54394983	T	C	PRKCG	c.585T>C	NM_002739.3	NP_002730.1:p.(Tyr195=)	NC_000019.9:g.54394983T>C	(Likely) benign	1 lab	94091b3dfb
6:1610839 FOXC1 C>T	6	1610839	1610839	C	T	FOXC1	c.159C>T	NM_001453.3	NP_001444.2:p.(Ala53=)	NC_000006.11:g.1610839C>T	(Likely) benign	1 lab	9409e0a630
3:129200409 IFT122 G>A	3	129200409	129200409	G	A	IFT122	c.1678G>A	NM_052985.3	NP_443711.2:p.(Val560Ile)	NC_000003.11:g.129200409G>A	(Likely) benign	1 lab	940c182faf
14:99641230 BCL11B C>A	14	99641230	99641230	C	A	BCL11B	c.1943G>T	NM_138576.3	NP_612808.1:p.(Gly648Val)	NC_000014.8:g.99641230C>A	(Likely) benign	1 lab	940cb7e238
14:105417244 AHNAK2 G>A	14	105417244	105417244	G	A	AHNAK2	c.4544C>T	NM_138420.3	NP_612429.2:p.(Ser1515Leu)	NC_000014.8:g.105417244G>A	(Likely) benign	1 lab	940cfefb6a
13:111114529 COL4A2 C>A	13	111114529	111114529	C	A	COL4A2	c.1665C>A	NM_001846.3	NP_001837.2:p.(Thr555=)	NC_000013.10:g.111114529C>A	(Likely) benign	1 lab	940d7731e1
13:114322172 GRK1 G>A	13	114322172	114322172	G	A	GRK1	c.471G>A	NM_002929.3	NP_002920.1:p.(Leu157=)	NC_000013.10:g.114322172G>A	(Likely) benign	1 lab	940fdd6c8f
5:1432618 SLC6A3 T>C	5	1432618	1432618	T	C	SLC6A3	c.614A>G	NM_001044.4	NP_001035.1:p.(Asn205Ser)	NC_000005.9:g.1432618T>C	(Likely) benign	1 lab	9410840fb5
17:4903273 KIF1C G>A	17	4903273	4903273	G	A	KIF1C	c.-28+8G>A	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4903273G>A	(Likely) benign	1 lab	941097e833
2:166231356 SCN2A C>T	2	166231356	166231356	C	T	SCN2A	c.4134C>T	NM_021007.2	NP_066287.2:p.(Ser1378=)	NC_000002.11:g.166231356C>T	(Likely) benign	1 lab	94117096cd
2:26706399 OTOF C>G	2	26706399	26706399	C	G	OTOF	c.1323G>C	NM_194248.2	NP_919224.1:p.(Lys441Asn)	NC_000002.11:g.26706399C>G	VUS	1 lab	941655ae1e
10:3141503 PFKP G>A	10	3141503	3141503	G	A	PFKP	c.109G>A	NM_001323072.1	NP_001310001.1:p.(Ala37Thr)	NC_000010.10:g.3141503G>A	(Likely) benign	1 lab	9416844460
22:36681933 MYH9 T>C	22	36681933	36681933	T	C	MYH9	c.5128A>G	NM_002473.5	NP_002464.1:p.(Ile1710Val)	NC_000022.10:g.36681933T>C	VUS	1 lab	94183fce43
16:29825849 PRRT2 ACC>A	16	29825849	29825853	ACC	A	PRRT2	c.1012+66_1012+67del	NM_145239.3	NP_660282.2:p.?	NC_000016.9:g.29825852_29825853del	(Likely) pathogenic	1 lab	9418408a57
1:227071383 PSEN2 C>T	1	227071383	227071383	C	T	PSEN2	c.142-23C>T	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227071383C>T	(Likely) benign	1 lab	9418b756fc
9:135796749 TSC1 C>A	9	135796749	135796749	C	A	TSC1	c.737+1G>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135796749C>A	(Likely) pathogenic	1 lab	941aaa0d8a
1:197097683 ASPM A>G	1	197097683	197097683	A	G	ASPM	c.2873T>C	NM_018136.4	NP_060606.3:p.(Phe958Ser)	NC_000001.10:g.197097683A>G	VUS	1 lab	941d9b819c
20:50400870 SALL4 A>G	20	50400870	50400870	A	G	SALL4	c.1785T>C	NM_001318031.1	NP_001304960.1:p.(Ala595=)	NC_000020.10:g.50400870A>G	(Likely) benign	1 lab	941eaae73c
11:117058418 SIDT2 G>A	11	117058418	117058418	G	A	SIDT2	c.1159+3G>A	NM_001040455.1	NP_001035545.1:p.?	NC_000011.9:g.117058418G>A	(Likely) benign	1 lab	941fbaf047
11:108165789 ATM G>A	11	108165789	108165789	G	A	ATM	c.4909+3G>A	NM_001351834.1	NP_001338763.1:p.?	NC_000011.9:g.108165789G>A	(Likely) benign	1 lab	94207f424c
17:78092008 GAA CCA>C	17	78092008	78092012	CCA	C	GAA	c.2501_2502del	NM_000152.5	NP_000143.2:p.(Thr834ArgfsTer49)	NC_000017.10:g.78092011_78092012del	(Likely) pathogenic	1 lab	9421c05a8a
7:7758145 RPA3 C>T	7	7758145	7758145	C	T	RPA3	c.-1080+1G>A	NM_002947.4	NP_002938.1:p.?	NC_000007.13:g.7758145C>T	VUS	1 lab	b6b11679e5
X:69720780 DLG3 C>T	X	69720780	69720780	C	T	DLG3	c.2288C>T	NM_021120.3	NP_066943.2:p.(Ala763Val)	NC_000023.10:g.69720780C>T	VUS	1 lab	9422f008dd
15:89862569 POLG C>G	15	89862569	89862569	C	G	POLG	c.2994G>C	NM_002693.2	NP_002684.1:p.(Ser998=)	NC_000015.9:g.89862569C>G	(Likely) benign	1 lab	9423bde8b6
4:106193787 TET2 G>A	4	106193787	106193787	G	A	TET2	c.4249G>A	NM_001127208.2	NP_001120680.1:p.(Val1417Ile)	NC_000004.11:g.106193787G>A	VUS	1 lab	9425707083
20:3209075 SLC4A11 C>T	20	3209075	3209075	C	T	SLC4A11	c.2518-1G>A	NM_001174090.1	NP_001167561.1:p.?	NC_000020.10:g.3209075C>T	(Likely) pathogenic	1 lab	9425811095
17:29685560 NF1 T>A	17	29685560	29685560	T	A	NF1	c.7970T>A	NM_000267.3	NP_000258.1:p.(Leu2657Ter)	NC_000017.10:g.29685560T>A	(Likely) pathogenic	1 lab	9426c208d5
X:601773 SHOX G>A	X	601773	601773	G	A	SHOX	c.584G>A	NM_000451.3	NP_000442.1:p.(Arg195Gln)	NC_000023.10:g.601773G>A	VUS	1 lab	9426ccdeed
18:7049171 LAMA1 C>T	18	7049171	7049171	C	T	LAMA1	c.674G>A	NM_005559.3	NP_005550.2:p.(Arg225His)	NC_000018.9:g.7049171C>T	(Likely) benign	1 lab	94290e0690
14:23897001 MYH7 C>T	14	23897001	23897001	C	T	MYH7	c.1681G>A	NM_000257.2	NP_000248.2:p.(Ala561Thr)	NC_000014.8:g.23897001C>T	VUS	1 lab	942ba716c6
2:202619239 ALS2 C>T	2	202619239	202619239	C	T	ALS2	c.1627G>A	NM_020919.3	NP_065970.2:p.(Asp543Asn)	NC_000002.11:g.202619239C>T	VUS	1 lab	942bc0236c
11:66618333 PC C>T	11	66618333	66618333	C	T	PC	c.2285G>A	NM_001040716.1	NP_001035806.1:p.(Arg762His)	NC_000011.9:g.66618333C>T	VUS	1 lab	942bf7969a
16:22330266 POLR3E A>G	16	22330266	22330266	A	G	POLR3E	c.985A>G	NM_018119.4	NP_060589.1:p.(Ser329Gly)	NC_000016.9:g.22330266A>G	(Likely) pathogenic	1 lab	942cafba63
3:191087711 CCDC50 A>T	3	191087711	191087711	A	T	CCDC50	c.334A>T	NM_178335.2	NP_848018.1:p.(Ile112Leu)	NC_000003.11:g.191087711A>T	VUS	1 lab	942d5499c8
9:32481365 RIGI G>A	9	32481365	32481365	G	A	RIGI	c.1611C>T	NM_014314.3	NP_055129.2:p.(Ala537=)	NC_000009.11:g.32481365G>A	(Likely) benign	1 lab	942dbb6b5f
4:122775938 BBS7 G>A	4	122775938	122775938	G	A	BBS7	c.639C>T	NM_176824.2	NP_789794.1:p.(Asp213=)	NC_000004.11:g.122775938G>A	(Likely) benign	1 lab	942dcf71cc
12:109999612 MMAB A>G	12	109999612	109999612	A	G	MMAB	c.394T>C	NM_052845.3	NP_443077.1:p.(Cys132Arg)	NC_000012.11:g.109999612A>G	(Likely) benign	1 lab	942fc590fc
X:153775066 G6PD G>A	X	153775066	153775066	G	A	G6PD	c.20C>T	NM_000402.4	NP_000393.4:p.(Ala7Val)	NC_000023.10:g.153775066G>A	(Likely) benign	1 lab	9430ad717f
1:197059498 ASPM A>C	1	197059498	197059498	A	C	ASPM	c.9657T>G	NM_018136.4	NP_060606.3:p.(Ser3219=)	NC_000001.10:g.197059498A>C	(Likely) benign	1 lab	9430c03238
16:31195709 FUS G>GAGGTGGAGGTGAGATGTCTTCAGCTTTGTCTGCAGCCCATTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCTGTTGCTGAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCGCGCCAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTGTCTGCAGCCCATTTTCTATAAGGATTTGTATTCTCCTGTTTTAGCTTAAAAGAGGGTTCCTGTCTTGTTTCCTAGCTGTCTTTTTACTTTCTTTTGTCCTTCATTGCCTGGCACTTGTCAAACCTTTTCAAACCTTTTAGTGCTACTTTACAATCTTTTTGTTTTTTTTTTTTAATCATTCTTTCTTTTCTCAC	16	31195709	31196261	G	GAGGTGGAGGTGAGATGTCTTCAGCTTTGTCTGCAGCCCATTTTCTTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTCTGTTGCTGAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCGCGCCAGTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTTTCGATCTCCTGACCTTGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGGTGTCTGCAGCCCATTTTCTATAAGGATTTGTATTCTCCTGTTTTAGCTTAAAAGAGGGTTCCTGTCTTGTTTCCTAGCTGTCTTTTTACTTTCTTTTGTCCTTCATTGCCTGGCACTTGTCAAACCTTTTCAAACCTTTTAGTGCTACTTTACAATCTTTTTGTTTTTTTTTTTTAATCATTCTTTCTTTTCTCAC	FUS	c.520_525dup	NM_004960.3	NP_004951.1:p.(Gly174_Gly175dup)	NC_000016.9:g.31195714_31196261dup	(Likely) benign	1 lab	9430ea323e
10:69902869 MYPN G>A	10	69902869	69902869	G	A	MYPN	c.193G>A	NM_001256268.2	NP_001243197.1:p.(Glu65Lys)	NC_000010.10:g.69902869G>A	VUS	1 lab	fe5eeaf77c
19:5694462 LONP1 G>A	19	5694462	5694462	G	A	LONP1	c.2256C>T	NM_004793.3	NP_004784.2:p.(Thr752=)	NC_000019.9:g.5694462G>A	VUS	1 lab	9431b67b7d
2:56149475 EFEMP1 C>G	2	56149475	56149475	C	G	EFEMP1	c.81+20G>C	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56149475C>G	(Likely) benign	1 lab	fe5f26cfda
2:179479378 TTN GGTTCAGGTTTTCCGGTTA>G	2	179479378	179479396	GGTTCAGGTTTTCCGGTTA	G	TTN	c.48845_48862del	NM_001267550.2	NP_001254479.2:p.(Val16282_Pro16288delinsAla)	NC_000002.11:g.179479379_179479396del	VUS	1 lab	94329442e6
2:85570816 RETSAT A>G	2	85570816	85570816	A	G	RETSAT	c.1639T>C	NM_017750.4	NP_060220.3:p.(Cys547Arg)	NC_000002.11:g.85570816A>G	(Likely) benign	1 lab	94334f9acd
21:45707415 AIRE C>T	21	45707415	45707415	C	T	AIRE				NC_000021.8:g.45707415C>T	VUS	1 lab	b86156f636
4:79308651 FRAS1 C>A	4	79308651	79308651	C	A	FRAS1	c.3771C>A	NM_025074.7	NP_079350.5:p.(Ile1257=)	NC_000004.11:g.79308651C>A	(Likely) benign	1 lab	94358227b5
7:100841516 MOGAT3 C>T	7	100841516	100841516	C	T	MOGAT3	c.624G>A	NM_178176.4	NP_835470.1:p.(Thr208=)	NC_000007.13:g.100841516C>T	(Likely) benign	1 lab	9435aa535a
1:118495168 WDR3 A>G	1	118495168	118495168	A	G	WDR3	c.2034A>G	NM_006784.3	NP_006775.1:p.(Ile678Met)	NC_000001.10:g.118495168A>G	VUS	1 lab	94366ae9f1
18:56940185 RAX G>A	18	56940185	56940185	G	A	RAX	c.254C>T	NM_013435.2	NP_038463.2:p.(Pro85Leu)	NC_000018.9:g.56940185G>A	(Likely) benign	1 lab	943684ab59
19:45868145 ERCC2 G>A	19	45868145	45868145	G	A	ERCC2	c.545C>T	NM_000400.3	NP_000391.1:p.(Ala182Val)	NC_000019.9:g.45868145G>A	(Likely) benign	1 lab	94381143bc
21:46321623 ITGB2 G>A	21	46321623	46321623	G	A	ITGB2	c.525C>T	NM_000211.3	NP_000202.2:p.(Thr175=)	NC_000021.8:g.46321623G>A	(Likely) benign	1 lab	94390972ce
5:89918423 ADGRV1 A>G	5	89918423	89918423	A	G	ADGRV1	c.463A>G	NM_032119.4	NP_115495.3:p.(Ile155Val)	NC_000005.9:g.89918423A>G	(Likely) benign	1 lab	9439765068
3:142272866 ATR C>T	3	142272866	142272866	C	T	ATR	c.2342-9G>A	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142272866C>T	(Likely) benign	1 lab	943beee475
17:649278 GEMIN4 G>A	17	649278	649278	G	A	GEMIN4	c.2005C>T	NM_015721.2	NP_056536.2:p.(Leu669Phe)	NC_000017.10:g.649278G>A	VUS	1 lab	943d03a164
6:131919531 MED23 A>G	6	131919531	131919531	A	G	MED23	c.2503T>C	NM_004830.4	NP_004821.2:p.(Ser835Pro)	NC_000006.11:g.131919531A>G	VUS	1 lab	943f59a260
X:78010546 LPAR4 T>C	X	78010546	78010546	T	C	LPAR4	c.180T>C	NM_005296.2	NP_005287.1:p.(Ser60=)	NC_000023.10:g.78010546T>C	(Likely) benign	1 lab	943f849101
16:2155881 PKD1 G>A	16	2155881	2155881	G	A	PKD1	c.7848C>T	NM_001009944.2	NP_001009944.2:p.(Val2616=)	NC_000016.9:g.2155881G>A	(Likely) benign	1 lab	94412fbd03
7:87138645 ABCB1 A>G	7	87138645	87138645	A	G	ABCB1	c.3435T>C	NM_000927.5	NP_000918.2:p.(Ile1145=)	NC_000007.13:g.87138645A>G	(Likely) benign	1 lab	fe634da628
3:12544799 TSEN2 G>A	3	12544799	12544799	G	A	TSEN2	c.347G>A	NM_025265.3	NP_079541.1:p.(Arg116His)	NC_000003.11:g.12544799G>A	VUS	1 lab	9445ebc27c
2:241513534 RNPEPL1 G>A	2	241513534	241513534	G	A	RNPEPL1	c.943G>A	NM_018226.6	NP_060696.4:p.(Asp315Asn)	NC_000002.11:g.241513534G>A	VUS	1 lab	944673ff44
1:215821907 USH2A A>G	1	215821907	215821907	A	G	USH2A	c.14545T>C	NM_206933.2	NP_996816.2:p.(Trp4849Arg)	NC_000001.10:g.215821907A>G	VUS	1 lab	94469c4f80
19:6710778 C3 A>G	19	6710778	6710778	A	G	C3	c.1558T>C	NM_000064.2	NP_000055.2:p.(Ser520Pro)	NC_000019.9:g.6710778A>G	(Likely) benign	1 lab	9446d36456
8:144996786 PLEC C>T	8	144996786	144996786	C	T	PLEC	c.7722G>A	NM_201380.3	NP_958782.1:p.(Gln2574=)	NC_000008.10:g.144996786C>T	(Likely) benign	1 lab	944a20c95e
5:77425028 AP3B1 A>T	5	77425028	77425028	A	T	AP3B1	c.1607T>A	NM_001271769.2	NP_001258698.1:p.(Val536Glu)	NC_000005.9:g.77425028A>T	(Likely) benign	1 lab	fe63634c91
5:118788492 HSD17B4 C>A	5	118788492	118788492	C	A	HSD17B4	c.44C>A	NM_001199291.2	NP_001186220.1:p.(Pro15Gln)	NC_000005.9:g.118788492C>A	VUS	1 lab	944c2adabf
X:96639004 DIAPH2 C>A	X	96639004	96639004	C	A	DIAPH2	c.3106C>A	NM_006729.4	NP_006720.1:p.(Arg1036Ser)	NC_000023.10:g.96639004C>A	VUS	1 lab	944c2f3b2a
12:65847501 MSRB3 G>T	12	65847501	65847501	G	T	MSRB3	c.293-7G>T	NM_001193460.1	NP_001180389.1:p.?	NC_000012.11:g.65847501G>T	(Likely) benign	1 lab	944ce2ea35
19:50154617 SCAF1 C>T	19	50154617	50154617	C	T	SCAF1	c.971C>T	NM_021228.3	NP_067051.2:p.(Ala324Val)	NC_000019.9:g.50154617C>T	(Likely) benign	1 lab	944ed91bb8
1:11848879 MTHFR A>G	1	11848879	11848879	A	G	MTHFR	c.*1858T>C	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11848879A>G	(Likely) benign	1 lab	944fbf2556
20:10621565 JAG1 C>T	20	10621565	10621565	C	T	JAG1	c.3065G>A	NM_000214.3	NP_000205.1:p.(Arg1022Gln)	NC_000020.10:g.10621565C>T	(Likely) benign	1 lab	fe66cc2178
2:219925062 IHH T>C	2	219925062	219925062	T	C	IHH	c.128A>G	NM_002181.3	NP_002172.2:p.(Lys43Arg)	NC_000002.11:g.219925062T>C	VUS	1 lab	945177da73
9:135779090 TSC1 AG>A	9	135779090	135779091	AG	A	TSC1	c.2155del	NM_000368.5	NP_000359.1:p.(Leu719SerfsTer5)	NC_000009.11:g.135779091del	(Likely) pathogenic	1 lab	9451e8cc57
10:55912991 PCDH15 C>T	10	55912991	55912991	C	T	PCDH15				NC_000010.10:g.55912991C>T	(Likely) benign	1 lab	9454beb1a1
10:114919725 TCF7L2 A>G	10	114919725	114919725	A	G	TCF7L2	c.1362A>G	NM_001198525.1	NP_001185454.1:p.(Gln454=)	NC_000010.10:g.114919725A>G	(Likely) benign	1 lab	9454fd4b77
10:100183430 HPS1 C>T	10	100183430	100183430	C	T	HPS1	c.561-5G>A	NM_001322487.1	NP_001309416.1:p.?	NC_000010.10:g.100183430C>T	(Likely) benign	1 lab	94563960fb
3:49456459 AMT C>G	3	49456459	49456459	C	G	AMT	c.822G>C	NM_000481.3	NP_000472.2:p.(Gly274=)	NC_000003.11:g.49456459C>G	(Likely) benign	1 lab	94567718b3
X:106840647 FRMPD3 C>T	X	106840647	106840647	C	T	FRMPD3	c.1637C>T	NM_032428.2	NP_115804.1:p.(Ser546Leu)	NC_000023.10:g.106840647C>T	(Likely) benign	1 lab	9456dbe44b
11:73679454 DNAJB13 G>A	11	73679454	73679454	G	A	DNAJB13	c.671G>A	NM_153614.3	NP_705842.2:p.(Arg224His)	NC_000011.9:g.73679454G>A	(Likely) benign	1 lab	9457cd3a98
1:160254835 PEX19 G>GGAGC	1	160254835	160254837	G	GGAGC	PEX19	c.70+9_70+10insGCTC	NM_002857.3	NP_002848.1:p.?	NC_000001.10:g.160254836_160254837insAGCG	(Likely) benign	1 lab	945868ed39
X:140786505 MISSING C>T	X	140786505	140786505	C	T	MISSING				NC_000023.10:g.140786505C>T	(Likely) benign	1 lab	945870c8f1
X:31986525 DMD T>C	X	31986525	31986525	T	C	DMD	c.6176A>G	NM_004010.3	NP_004001.1:p.(Gln2059Arg)	NC_000023.10:g.31986525T>C	(Likely) benign	1 lab	9458a382e0
16:3644603 SLX4 G>A	16	3644603	3644603	G	A	SLX4	c.2014-3C>T	NM_032444.2	NP_115820.2:p.?	NC_000016.9:g.3644603G>A	(Likely) benign	1 lab	945a5bfabb
8:10480564 RP1L1 G>A	8	10480564	10480564	G	A	RP1L1	c.148C>T	NM_178857.5	NP_849188.4:p.(Arg50Cys)	NC_000008.10:g.10480564G>A	VUS	1 lab	945af964e8
18:28669436 DSC2 C>T	18	28669436	28669436	C	T	DSC2	c.596G>A	NM_004949.3	NP_004940.1:p.(Arg199His)	NC_000018.9:g.28669436C>T	(Likely) benign	1 lab	945b980b3a
17:43531268 PLEKHM1 C>T	17	43531268	43531268	C	T	PLEKHM1	c.1950G>A	NM_014798.2	NP_055613.1:p.(Ala650=)	NC_000017.10:g.43531268C>T	(Likely) benign	1 lab	945ca5dccd
19:49468602 FTL AAC>A	19	49468602	49468605	AAC	A	FTL	c.-161_-160del	NM_000146.4	NP_000137.2:p.?	NC_000019.9:g.49468604_49468605del	(Likely) pathogenic	1 lab	945e1aff3f
5:149361300 SLC26A2 C>T	5	149361300	149361300	C	T	SLC26A2	c.2144C>T	NM_000112.3	NP_000103.2:p.(Ala715Val)	NC_000005.9:g.149361300C>T	(Likely) pathogenic	1 lab	945e724454
22:21304124 CRKL A>C	22	21304124	21304124	A	C	CRKL	c.903A>C	NM_005207.4	NP_005198.1:p.(Glu301Asp)	NC_000022.10:g.21304124A>C	VUS	1 lab	fe6b83d822
17:29657391 NF1 C>A	17	29657391	29657391	C	A	NF1	c.5624C>A	NM_000267.3	NP_000258.1:p.(Ser1875Ter)	NC_000017.10:g.29657391C>A	(Likely) pathogenic	1 lab	946127768b
9:131345059 SPTAN1 C>T	9	131345059	131345059	C	T	SPTAN1	c.1737C>T	NM_001363759.1	NP_001350688.1:p.(Phe579=)	NC_000009.11:g.131345059C>T	(Likely) benign	1 lab	946347f7b7
17:78078931 GAA G>A	17	78078931	78078931	G	A	GAA	c.546G>A	NM_000152.3	NP_000143.2:p.(Thr182=)	NC_000017.10:g.78078931G>A	(Likely) pathogenic	1 lab	946408e537
14:19378453 OR11H12 A>T	14	19378453	19378453	A	T	OR11H12	c.860A>T	NM_001013354.1	NP_001013372.1:p.(Lys287Ile)	NC_000014.8:g.19378453A>T	VUS	1 lab	9466311e31
X:70586225 TAF1 A>G	X	70586225	70586225	A	G	TAF1	c.61A>G	NM_004606.4	NP_004597.2:p.(Met21Val)	NC_000023.10:g.70586225A>G	VUS	1 lab	94669fd572
X:153229712 HCFC1 T>C	X	153229712	153229712	T	C	HCFC1	c.366A>G	NM_005334.2	NP_005325.2:p.(Arg122=)	NC_000023.10:g.153229712T>C	(Likely) benign	1 lab	9467a2b0ac
17:26732121 MISSING G>A	17	26732121	26732121	G	A	MISSING				NC_000017.10:g.26732121G>A	(Likely) benign	1 lab	ba80957c24
15:101775437 CHSY1 C>T	15	101775437	101775437	C	T	CHSY1	c.666G>A	NM_014918.4	NP_055733.2:p.(Gly222=)	NC_000015.9:g.101775437C>T	(Likely) benign	1 lab	946d415765
6:138200310 TNFAIP3 G>A	6	138200310	138200310	G	A	TNFAIP3	c.1728G>A	NM_001270507.1	NP_001257436.1:p.(Pro576=)	NC_000006.11:g.138200310G>A	(Likely) benign	1 lab	946df025e9
1:6504642 ESPN G>A	1	6504642	6504642	G	A	ESPN	c.1092G>A	NM_031475.3	NP_113663.2:p.(Gln364=)	NC_000001.10:g.6504642G>A	(Likely) benign	1 lab	946e0ad253
16:3294247 MEFV G>A	16	3294247	3294247	G	A	MEFV	c.1759+7C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3294247G>A	(Likely) benign	1 lab	946e838837
X:53578049 HUWE1 G>A	X	53578049	53578049	G	A	HUWE1	c.9198C>T	NM_031407.6	NP_113584.3:p.(Pro3066=)	NC_000023.10:g.53578049G>A	(Likely) benign	1 lab	946fd80458
21:46900685 COL18A1 T>C	21	46900685	46900685	T	C	COL18A1	c.2064T>C	NM_030582.4	NP_085059.2:p.(Phe688=)	NC_000021.8:g.46900685T>C	(Likely) benign	1 lab	94718e7418
7:82763982 PCLO C>T	7	82763982	82763982	C	T	PCLO	c.2884G>A	NM_033026.5	NP_149015.2:p.(Ala962Thr)	NC_000007.13:g.82763982C>T	(Likely) benign	1 lab	947207090a
11:118220536 CD3G T>C	11	118220536	118220536	T	C	CD3G	c.158T>C	NM_000073.2	NP_000064.1:p.(Ile53Thr)	NC_000011.9:g.118220536T>C	VUS	1 lab	94732a6720
19:3980519 EEF2 T>G	19	3980519	3980519	T	G	EEF2	c.1339A>C	NM_001961.3	NP_001952.1:p.(Ile447Leu)	NC_000019.9:g.3980519T>G	VUS	1 lab	d9ef9d55b8
11:76804724 CAPN5 G>A	11	76804724	76804724	G	A	CAPN5	c.166-4G>A	NM_004055.4	NP_004046.2:p.?	NC_000011.9:g.76804724G>A	(Likely) benign	1 lab	9473f27f1b
3:46009277 FYCO1 A>T	3	46009277	46009277	A	T	FYCO1	c.1549T>A	NM_024513.3	NP_078789.2:p.(Phe517Ile)	NC_000003.11:g.46009277A>T	VUS	1 lab	9474867f91
2:108487761 RGPD4 C>T	2	108487761	108487761	C	T	RGPD4	c.3301C>T	NM_182588.2	NP_872394.2:p.(Arg1101Ter)	NC_000002.11:g.108487761C>T	VUS	1 lab	9475d2db7c
5:138860432 STING1 C>T	5	138860432	138860432	C	T	STING1	c.463G>A	NM_198282.4	NP_938023.1:p.(Val155Met)	NC_000005.9:g.138860432C>T	VUS	1 lab	947835e860
6:152542677 SYNE1 C>T	6	152542677	152542677	C	T	SYNE1	c.21540G>A	NM_182961.3	NP_892006.3:p.(Leu7180=)	NC_000006.11:g.152542677C>T	(Likely) benign	1 lab	94785afc95
10:123256021 FGFR2 G>A	10	123256021	123256021	G	A	FGFR2	c.1863+25C>T	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123256021G>A	(Likely) benign	1 lab	9479e97bfd
2:47273580 TTC7A C>T	2	47273580	47273580	C	T	TTC7A	c.1919+10C>T	NM_001288951.1	NP_001275880.1:p.?	NC_000002.11:g.47273580C>T	(Likely) benign	1 lab	947e239277
2:16082497 MYCN G>A	2	16082497	16082497	G	A	MYCN	c.311G>A	NM_001293228.1	NP_001280157.1:p.(Gly104Asp)	NC_000002.11:g.16082497G>A	(Likely) benign	1 lab	947e9d1f6d
10:27431387 YME1L1 C>T	10	27431387	27431387	C	T	YME1L1	c.530G>A	NM_139312.2	NP_647473.1:p.(Arg177His)	NC_000010.10:g.27431387C>T	(Likely) benign	1 lab	9482e96798
1:15736566 EFHD2 A>AGCGGCG	1	15736566	15736582	A	AGCGGCG	EFHD2	c.110_115dup	NM_024329.6	NP_077305.2:p.(Ala37_Ala38dup)	NC_000001.10:g.15736577_15736582dup	VUS	1 lab	9483f263c4
2:179395215 TTN C>G	2	179395215	179395215	C	G	TTN	c.106127G>C	NM_001267550.2	NP_001254479.2:p.(Gly35376Ala)	NC_000002.11:g.179395215C>G	VUS	1 lab	fe7053e331
20:60887964 LAMA5 G>C	20	60887964	60887964	G	C	LAMA5	c.9058C>G	NM_005560.4	NP_005551.3:p.(Leu3020Val)	NC_000020.10:g.60887964G>C	(Likely) benign	1 lab	9484b12e2b
X:153780361 IKBKG T>A	X	153780361	153780361	T	A	IKBKG	c.144T>A	NM_001099857.2	NP_001093327.1:p.(Pro48=)	NC_000023.10:g.153780361T>A	(Likely) benign	1 lab	9486b1a0a5
6:72968807 RIMS1 C>T	6	72968807	72968807	C	T	RIMS1	c.3046C>T	NM_014989.5	NP_055804.2:p.(Gln1016Ter)	NC_000006.11:g.72968807C>T	VUS	1 lab	948753772c
9:451993 DOCK8 TTTTTTTTTTC>T	9	451993	452003	TTTTTTTTTTC	T	DOCK8	c.5962-17_5962-8del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451994_452003del	(Likely) benign	1 lab	94895a925b
21:44299536 WDR4 C>A	21	44299536	44299536	C	A	WDR4	c.70G>T	NM_033661.4	NP_387510.1:p.(Ala24Ser)	NC_000021.8:g.44299536C>A	(Likely) benign	1 lab	949b06a535
9:141014793 CACNA1B G>T	9	141014793	141014793	G	T	CACNA1B	c.6207G>T	NM_000718.3	NP_000709.1:p.(Lys2069Asn)	NC_000009.11:g.141014793G>T	VUS	1 lab	948c17e5f1
8:6264179 MCPH1 G>C	8	6264179	6264179	G	C	MCPH1	c.-10G>C	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6264179G>C	(Likely) benign	1 lab	948e4e1b8b
2:179422675 TTN C>A	2	179422675	179422675	C	A	TTN	c.87406G>T	NM_001267550.2	NP_001254479.2:p.(Asp29136Tyr)	NC_000002.11:g.179422675C>A	VUS	1 lab	fe7143680a
7:148508821 EZH2 T>C	7	148508821	148508821	T	C	EZH2	c.1852-9A>G	NM_004456.4	NP_004447.2:p.?	NC_000007.13:g.148508821T>C	(Likely) benign	1 lab	949201e154
7:82996918 SEMA3E T>C	7	82996918	82996918	T	C	SEMA3E	c.2312A>G	NM_012431.3	NP_036563.1:p.(His771Arg)	NC_000007.13:g.82996918T>C	VUS	1 lab	fe751005f2
17:78092546 GAA A>CAG	17	78092546	78092546	A	CAG	GAA	c.2741delinsCAG	NM_000152.3	NP_000143.2:p.(Gln914ProfsTer30)	NC_000017.10:g.78092546delinsCAG	(Likely) pathogenic	1 lab	949363cb06
X:119742196 MCTS1 G>A	X	119742196	119742196	G	A	MCTS1	c.379G>A	NM_014060.3	NP_054779.1:p.(Ala127Thr)	NC_000023.10:g.119742196G>A	(Likely) benign	1 lab	949980f5a0
2:74596438 DCTN1 C>T	2	74596438	74596438	C	T	DCTN1	c.1573G>A	NM_004082.4	NP_004073.2:p.(Ala525Thr)	NC_000002.11:g.74596438C>T	VUS	1 lab	949a738ab0
8:126052090 WASHC5 ATAATT>A	8	126052090	126052100	ATAATT	A	WASHC5	c.2896_2900del	NM_014846.4	NP_055661.3:p.(Asn966PhefsTer5)	NC_000008.10:g.126052096_126052100del	(Likely) pathogenic	1 lab	949ca61cf1
5:37324098 NUP155 G>A	5	37324098	37324098	G	A	NUP155	c.2026C>T	NM_004298.3	NP_004289.1:p.(Pro676Ser)	NC_000005.9:g.37324098G>A	(Likely) benign	1 lab	949e0ed50f
2:168096442 XIRP2 A>C	2	168096442	168096442	A	C	XIRP2	c.936A>C	NM_152381.5	NP_689594.4:p.(Lys312Asn)	NC_000002.11:g.168096442A>C	(Likely) benign	1 lab	949e121757
6:31930242 SKIC2 CCCTGAGCAA>C	6	31930242	31930253	CCCTGAGCAA	C	SKIC2	c.1094_1102del	NM_006929.5	NP_008860.4:p.(Leu365_Asn367del)	NC_000006.11:g.31930245_31930253del	VUS	1 lab	949e77640d
X:44969370 KDM6A G>A	X	44969370	44969370	G	A	KDM6A	c.4208G>A	NM_001291415.1	NP_001278344.1:p.(Arg1403Gln)	NC_000023.10:g.44969370G>A	(Likely) benign	1 lab	949f325184
8:145738442 RECQL4 C>T	8	145738442	145738442	C	T	RECQL4	c.2543G>A	NM_004260.3	NP_004251.3:p.(Arg848His)	NC_000008.10:g.145738442C>T	VUS	1 lab	94a3654770
15:62212502 VPS13C A>G	15	62212502	62212502	A	G	VPS13C	c.7241T>C	NM_001018088.2	NP_001018098.1:p.(Phe2414Ser)	NC_000015.9:g.62212502A>G	(Likely) benign	1 lab	94a36aad11
4:1807793 FGFR3 C>T	4	1807793	1807793	C	T	FGFR3	c.1852C>T	NM_000142.4	NP_000133.1:p.(Leu618=)	NC_000004.11:g.1807793C>T	(Likely) benign	1 lab	94a403a687
19:36562621 WDR62 A>G	19	36562621	36562621	A	G	WDR62	c.1043+3A>G	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36562621A>G	VUS	1 lab	94a658d766
20:55099977 FAM209A A>G	20	55099977	55099977	A	G	FAM209A	c.113A>G	NM_001012971.3	NP_001012989.2:p.(Tyr38Cys)	NC_000020.10:g.55099977A>G	(Likely) benign	1 lab	94a74cea05
8:11400821 BLK G>A	8	11400821	11400821	G	A	BLK	c.88G>A	NM_001715.2	NP_001706.2:p.(Ala30Thr)	NC_000008.10:g.11400821G>A	(Likely) benign	1 lab	94b43937be
X:5821822 NLGN4X T>C	X	5821822	5821822	T	C	NLGN4X	c.897A>G	NM_001282145.1	NP_001269074.1:p.(Ile299Met)	NC_000023.10:g.5821822T>C	(Likely) benign	1 lab	94a7cc5bf3
19:1009501 GRIN3B TCGGGGACAGCG>T	19	1009501	1009513	TCGGGGACAGCG	T	GRIN3B	c.3034_3044del	NM_138690.3	NP_619635.1:p.(Gly1012ThrfsTer65)	NC_000019.9:g.1009503_1009513del	VUS	1 lab	94a92ad49e
5:59481416 PDE4D T>C	5	59481416	59481416	T	C	PDE4D	c.10A>G	NM_001165899.1	NP_001159371.1:p.(Asn4Asp)	NC_000005.9:g.59481416T>C	(Likely) benign	1 lab	94aaac07be
7:99703605 AP4M1 G>A	7	99703605	99703605	G	A	AP4M1	c.953G>A	NM_004722.3	NP_004713.2:p.(Arg318Gln)	NC_000007.13:g.99703605G>A	VUS	1 lab	94ab4893c9
4:1807224 FGFR3 G>T	4	1807224	1807224	G	T	FGFR3	c.1534+21G>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807224G>T	VUS	1 lab	9568a468ef
3:122003625 CASR G>GAGC	3	122003625	122003640	G	GAGC	CASR	c.2837_2839dup	NM_000388.4	NP_000379.3:p.(Gln946dup)	NC_000003.11:g.122003638_122003640dup	(Likely) benign	1 lab	fe7cea7447
16:53639447 RPGRIP1L C>T	16	53639447	53639447	C	T	RPGRIP1L	c.3781G>A	NM_015272.4	NP_056087.2:p.(Asp1261Asn)	NC_000016.9:g.53639447C>T	(Likely) benign	1 lab	94ac05eb6e
X:106331777 RBM41 C>T	X	106331777	106331777	C	T	RBM41	c.993G>A	NM_001324243.1	NP_001311172.1:p.(Thr331=)	NC_000023.10:g.106331777C>T	(Likely) benign	1 lab	94ad77db74
9:8500768 PTPRD C>T	9	8500768	8500768	C	T	PTPRD	c.2114G>A	NM_002839.4	NP_002830.1:p.(Arg705Gln)	NC_000009.11:g.8500768C>T	VUS	1 lab	fe7dfdd151
16:30456464 SEPHS2 C>G	16	30456464	30456464	C	G	SEPHS2	c.585G>C	NM_012248.3	NP_036380.2:p.(Met195Ile)	NC_000016.9:g.30456464C>G	(Likely) benign	1 lab	94b0c06ee0
1:5965721 NPHP4 G>A	1	5965721	5965721	G	A	NPHP4	c.1734C>T	NM_015102.4	NP_055917.1:p.(Ala578=)	NC_000001.10:g.5965721G>A	(Likely) benign	1 lab	94b17bd5f4
11:2188715 TH G>A	11	2188715	2188715	G	A	TH	c.738C>T	NM_199292.2	NP_954986.2:p.(His246=)	NC_000011.9:g.2188715G>A	(Likely) benign	1 lab	94b2437ce6
1:114449707 DCLRE1B C>T	1	114449707	114449707	C	T	DCLRE1B	c.279C>T	NM_022836.4	NP_073747.1:p.(Thr93=)	NC_000001.10:g.114449707C>T	(Likely) benign	1 lab	94b36f1322
16:88776363 CTU2 T>C	16	88776363	88776363	T	C	CTU2	c.161T>C	NM_001318507.1	NP_001305436.1:p.(Phe54Ser)	NC_000016.9:g.88776363T>C	VUS	1 lab	94b55ea5e6
5:118814660 HSD17B4 G>C	5	118814660	118814660	G	C	HSD17B4	c.641G>C	NM_001199291.2	NP_001186220.1:p.(Cys214Ser)	NC_000005.9:g.118814660G>C	VUS	1 lab	94b637414f
19:8670243 ADAMTS10 T>C	19	8670243	8670243	T	C	ADAMTS10	c.89A>G	NM_030957.3	NP_112219.3:p.(Asp30Gly)	NC_000019.9:g.8670243T>C	(Likely) benign	1 lab	94b8942eaa
4:16002229 PROM1 TTAA>T	4	16002229	16002233	TTAA	T	PROM1	c.1465_1467del	NM_006017.3	NP_006008.1:p.(Leu489del)	NC_000004.11:g.16002231_16002233del	VUS	1 lab	94b923a5f4
17:78081429 GAA TATATCACAGGCCTCGCCGA>C	17	78081429	78081448	TATATCACAGGCCTCGCCGA	C	GAA	c.766_785delinsC	NM_000152.3	NP_000143.2:p.(Tyr256ArgfsTer6)	NC_000017.10:g.78081429_78081448delinsC	(Likely) pathogenic	1 lab	94bb2e2358
15:51766731 DMXL2 C>T	15	51766731	51766731	C	T	DMXL2	c.7023G>A	NM_001174116.1	NP_001167587.1:p.(Leu2341=)	NC_000015.9:g.51766731C>T	(Likely) benign	1 lab	94bcf5b511
18:67727176 RTTN A>G	18	67727176	67727176	A	G	RTTN	c.4850T>C	NM_173630.3	NP_775901.3:p.(Met1617Thr)	NC_000018.9:g.67727176A>G	(Likely) benign	1 lab	94bd520d9d
2:170030537 LRP2 G>A	2	170030537	170030537	G	A	LRP2	c.10906C>T	NM_004525.3	NP_004516.2:p.(Arg3636Trp)	NC_000002.11:g.170030537G>A	VUS	1 lab	94bd9c8b16
2:97527609 SEMA4C C>G	2	97527609	97527609	C	G	SEMA4C	c.1466G>C	NM_017789.5	NP_060259.4:p.(Arg489Pro)	NC_000002.11:g.97527609C>G	VUS	1 lab	94bea808b2
19:9046871 MUC16 G>A	19	9046871	9046871	G	A	MUC16	c.34760C>T	NM_024690.2	NP_078966.2:p.(Thr11587Met)	NC_000019.9:g.9046871G>A	(Likely) benign	1 lab	94bfea97ad
9:133948014 LAMC3 T>C	9	133948014	133948014	T	C	LAMC3	c.3212-3T>C	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133948014T>C	VUS	1 lab	94c018c191
17:41246742 BRCA1 A>G	17	41246742	41246742	A	G	BRCA1	c.806T>C	NM_007294.3	NP_009225.1:p.(Leu269Ser)	NC_000017.10:g.41246742A>G	VUS	1 lab	94c0b59916
11:64504338 RASGRP2 G>A	11	64504338	64504338	G	A	RASGRP2	c.982C>T	NM_153819.1	NP_722541.1:p.(Arg328Trp)	NC_000011.9:g.64504338G>A	VUS	1 lab	94c2485fbb
3:4716839 ITPR1 T>C	3	4716839	4716839	T	C	ITPR1	c.2641T>C	NM_001168272.1	NP_001161744.1:p.(Leu881=)	NC_000003.11:g.4716839T>C	(Likely) benign	1 lab	94c316652b
6:82461798 TENT5A T>A	6	82461798	82461798	T	A	TENT5A	c.61A>T	NM_017633.2	NP_060103.2:p.(Ile21Phe)	NC_000006.11:g.82461798T>A	(Likely) benign	1 lab	94c60660e3
18:48575046 SMAD4 A>G	18	48575046	48575046	A	G	SMAD4	c.250-10A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48575046A>G	(Likely) benign	1 lab	94c6b879ff
X:152956874 SLC6A8 C>T	X	152956874	152956874	C	T	SLC6A8	c.510C>T	NM_005629.3	NP_005620.1:p.(Ala170=)	NC_000023.10:g.152956874C>T	(Likely) benign	1 lab	94c765f5a8
21:42815790 MX1 CTG>C	21	42815790	42815795	CTG	C	MX1	c.1008+1_1008+2del	NM_002462.5	NP_002453.2:p.?	NC_000021.8:g.42815794_42815795del	VUS	1 lab	94cdab66c5
14:23856811 MYH6 T>C	14	23856811	23856811	T	C	MYH6	c.4577A>G	NM_002471.3	NP_002462.2:p.(His1526Arg)	NC_000014.8:g.23856811T>C	VUS	1 lab	94cdff63ed
6:33756406 LEMD2 C>A	6	33756406	33756406	C	A	LEMD2	c.488G>T	NM_181336.3	NP_851853.1:p.(Trp163Leu)	NC_000006.11:g.33756406C>A	VUS	1 lab	94ce9813d9
19:33902645 PEPD A>T	19	33902645	33902645	A	T	PEPD	c.751T>A	NM_000285.3	NP_000276.2:p.(Ser251Thr)	NC_000019.9:g.33902645A>T	(Likely) benign	1 lab	94d051ff13
17:37627693 CDK12 A>C	17	37627693	37627693	A	C	CDK12	c.1608A>C	NM_016507.3	NP_057591.2:p.(Pro536=)	NC_000017.10:g.37627693A>C	(Likely) benign	1 lab	94d22e2df0
X:100656719 GLA C>CA	X	100656719	100656723	C	CA	GLA	c.447dup	NM_000169.2	NP_000160.1:p.(Gly150TrpfsTer6)	NC_000023.10:g.100656723dup	(Likely) pathogenic	1 lab	94d2749a47
4:68606377 GNRHR C>T	4	68606377	68606377	C	T	GNRHR	c.808G>A	NM_000406.2	NP_000397.1:p.(Val270Ile)	NC_000004.11:g.68606377C>T	(Likely) benign	1 lab	94d2f2f96e
X:128696377 OCRL T>C	X	128696377	128696377	T	C	OCRL	c.956T>C	NM_000276.3	NP_000267.2:p.(Leu319Pro)	NC_000023.10:g.128696377T>C	VUS	1 lab	94d3fc8346
4:88535814 DSPP ATAG>A	4	88535814	88535821	ATAG	A	DSPP	c.2005_2007del	NM_014208.3	NP_055023.2:p.(Ser669del)	NC_000004.11:g.88535819_88535821del	VUS	1 lab	94d5117059
2:73800433 ALMS1 G>A	2	73800433	73800433	G	A	ALMS1	c.11432G>A	NM_015120.4	NP_055935.4:p.(Ser3811Asn)	NC_000002.11:g.73800433G>A	VUS	1 lab	fe80bb7373
17:36489150 GPR179 T>C	17	36489150	36489150	T	C	GPR179	c.2021A>G	NM_001004334.3	NP_001004334.3:p.(Asp674Gly)	NC_000017.10:g.36489150T>C	VUS	1 lab	94d6a206ab
X:54574779 GNL3L C>T	X	54574779	54574779	C	T	GNL3L	c.748C>T	NM_001184819.2	NP_001171748.1:p.(Arg250Cys)	NC_000023.10:g.54574779C>T	VUS	1 lab	94d6eac8da
2:26683531 OTOF G>A	2	26683531	26683531	G	A	OTOF	c.5797C>T	NM_194248.2	NP_919224.1:p.(Pro1933Ser)	NC_000002.11:g.26683531G>A	VUS	1 lab	94d721926f
19:1221320 STK11 GCTCTCT>G	19	1221320	1221326	GCTCTCT	G	STK11	c.844_849del	NM_000455.5	NP_000446.1:p.(Leu282_Ser283del)	NC_000019.9:g.1221321_1221326del	(Likely) pathogenic	1 lab	94da13ced5
8:72981253 TRPA1 C>A	8	72981253	72981253	C	A	TRPA1	c.444+5G>T	NM_007332.2	NP_015628.2:p.?	NC_000008.10:g.72981253C>A	(Likely) benign	1 lab	94f4889522
X:69647034 GDPD2 C>T	X	69647034	69647034	C	T	GDPD2	c.750C>T	NM_001171192.1	NP_001164663.1:p.(Cys250=)	NC_000023.10:g.69647034C>T	(Likely) benign	1 lab	94dbb92a71
11:17593733 OTOG G>A	11	17593733	17593733	G	A	OTOG	c.2098G>A	NM_001277269.1	NP_001264198.1:p.(Asp700Asn)	NC_000011.9:g.17593733G>A	VUS	1 lab	94dc08995a
2:47596657 EPCAM C>T	2	47596657	47596657	C	T	EPCAM	c.13C>T	NM_002354.2	NP_002345.2:p.(Gln5Ter)	NC_000002.11:g.47596657C>T	(Likely) pathogenic	1 lab	94dda37bff
X:14883371 FANCB C>T	X	14883371	14883371	C	T	FANCB	c.262G>A	NM_001018113.1	NP_001018123.1:p.(Gly88Arg)	NC_000023.10:g.14883371C>T	(Likely) benign	1 lab	94dee749e3
13:103515410 ERCC5 C>T	13	103515410	103515410	C	T	ERCC5	c.1911C>T	NM_000123.3	NP_000114.2:p.(Ala637=)	NC_000013.10:g.103515410C>T	(Likely) benign	1 lab	94def1f02b
10:21115408 NEBL G>A	10	21115408	21115408	G	A	NEBL	c.1837C>T	NM_006393.2	NP_006384.1:p.(Arg613Ter)	NC_000010.10:g.21115408G>A	VUS	1 lab	94df68a7c5
X:129147751 BCORL1 A>C	X	129147751	129147751	A	C	BCORL1	c.1003A>C	NM_021946.4	NP_068765.3:p.(Thr335Pro)	NC_000023.10:g.129147751A>C	VUS	1 lab	94df7d3ae5
13:39433560 FREM2 G>A	13	39433560	39433560	G	A	FREM2	c.7352G>A	NM_207361.5	NP_997244.4:p.(Arg2451Lys)	NC_000013.10:g.39433560G>A	(Likely) benign	1 lab	94df9beea4
X:53622323 HUWE1 T>C	X	53622323	53622323	T	C	HUWE1	c.3204A>G	NM_031407.6	NP_113584.3:p.(Gly1068=)	NC_000023.10:g.53622323T>C	(Likely) benign	1 lab	94e004c6c1
10:70776067 KIFBP T>C	10	70776067	70776067	T	C	KIFBP	c.1761T>C	NM_015634.3	NP_056449.1:p.(Pro587=)	NC_000010.10:g.70776067T>C	(Likely) benign	1 lab	94e253cb92
2:220370192 GMPPA C>T	2	220370192	220370192	C	T	GMPPA	c.768C>T	NM_205847.2	NP_995319.1:p.(Tyr256=)	NC_000002.11:g.220370192C>T	(Likely) benign	1 lab	94e254ace1
5:132269839 AFF4 A>G	5	132269839	132269839	A	G	AFF4	c.918T>C	NM_014423.3	NP_055238.1:p.(Asp306=)	NC_000005.9:g.132269839A>G	(Likely) benign	1 lab	94e2fd1043
7:87757976 ADAM22 G>A	7	87757976	87757976	G	A	ADAM22	c.738G>A	NM_001324418.1	NP_001311347.1:p.(Val246=)	NC_000007.13:g.87757976G>A	(Likely) benign	1 lab	94e30bc4e2
18:19076591 GREB1L A>G	18	19076591	19076591	A	G	GREB1L	c.3323A>G	NM_001142966.2	NP_001136438.1:p.(Asp1108Gly)	NC_000018.9:g.19076591A>G	VUS	1 lab	94e3c684e3
12:133587241 ZNF26 G>C	12	133587241	133587241	G	C	ZNF26	c.716G>C	NM_001330513.1	NP_001317442.1:p.(Gly239Ala)	NC_000012.11:g.133587241G>C	(Likely) benign	1 lab	94e3e1c562
1:12393329 VPS13D A>G	1	12393329	12393329	A	G	VPS13D	c.8334A>G	NM_015378.4	NP_056193.2:p.(Gln2778=)	NC_000001.10:g.12393329A>G	(Likely) benign	1 lab	94e56c5083
10:101716409 DNMBP C>T	10	101716409	101716409	C	T	DNMBP	c.822G>A	NM_015221.4	NP_056036.1:p.(Ala274=)	NC_000010.10:g.101716409C>T	(Likely) benign	1 lab	94e593d090
3:37055986 MLH1 CA>C	3	37055986	37055988	CA	C	MLH1	c.743del	NM_000249.4	NP_000240.1:p.(Asn248MetfsTer6)	NC_000003.11:g.37055988del	(Likely) pathogenic	1 lab	94e7bad3dc
10:97471716 ENTPD1 G>C	10	97471716	97471716	G	C	ENTPD1	c.3G>C	NM_001098175.1	NP_001091645.1:p.(Met1?)	NC_000010.10:g.97471716G>C	(Likely) benign	1 lab	94e8a617b6
X:15821876 ZRSR2 A>T	X	15821876	15821876	A	T	ZRSR2	c.269A>T	NM_005089.3	NP_005080.1:p.(Lys90Met)	NC_000023.10:g.15821876A>T	VUS	1 lab	94e951340c
X:44913068 KDM6A C>CT	X	44913068	44913069	C	CT	KDM6A	c.749-5dup	NM_001291415.1	NP_001278344.1:p.?	NC_000023.10:g.44913069dup	(Likely) benign	1 lab	94e9d57edb
17:11795106 DNAH9 G>A	17	11795106	11795106	G	A	DNAH9	c.11125G>A	NM_001372.3	NP_001363.2:p.(Val3709Ile)	NC_000017.10:g.11795106G>A	VUS	1 lab	94ea8c2104
22:28194755 MN1 C>A	22	28194755	28194755	C	A	MN1	c.1777G>T	NM_002430.2	NP_002421.3:p.(Gly593Cys)	NC_000022.10:g.28194755C>A	VUS	1 lab	94ead3ac9c
5:72742902 FOXD1 C>CGCG	5	72742902	72742904	C	CGCG	FOXD1	c.1287_1288insCGC	NM_004472.3	NP_004463.1:p.(Ala429_Ala430insArg)	NC_000005.9:g.72742903_72742904insCGG	(Likely) benign	1 lab	94eadcb196
15:25223029 SNRPN G>A	15	25223029	25223029	G	A	SNRPN	c.525G>A	NM_001349460.1	NP_001336389.1:p.(Pro175=)	NC_000015.9:g.25223029G>A	(Likely) benign	1 lab	94eb8109a3
14:23890148 MYH7 G>T	14	23890148	23890148	G	T	MYH7	c.3336+19C>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23890148G>T	(Likely) benign	1 lab	94ed4ef575
17:29664844 NF1 TGA>T	17	29664844	29664850	TGA	T	NF1	c.6655_6656del	NM_001042492.3	NP_001035957.1:p.(Asp2219TyrfsTer22)	NC_000017.10:g.29664849_29664850del	(Likely) pathogenic	1 lab	94edb60e6a
15:49061263 CEP152 AG>A	15	49061263	49061265	AG	A	CEP152	c.1797del	NM_001194998.2	NP_001181927.1:p.(Ser600GlnfsTer46)	NC_000015.9:g.49061265del	(Likely) pathogenic	1 lab	94ee5ec5bb
17:11502209 DNAH9 C>G	17	11502209	11502209	C	G	DNAH9	c.394C>G	NM_001372.3	NP_001363.2:p.(His132Asp)	NC_000017.10:g.11502209C>G	(Likely) benign	1 lab	94ef49ae6f
X:153043450 PLXNB3 T>A	X	153043450	153043450	T	A	PLXNB3	c.5378T>A	NM_001163257.1	NP_001156729.1:p.(Ile1793Asn)	NC_000023.10:g.153043450T>A	VUS	1 lab	94f1f8f1e0
X:153640455 TAFAZZIN G>A	X	153640455	153640455	G	A	TAFAZZIN	c.142G>A	NM_000116.3	NP_000107.1:p.(Glu48Lys)	NC_000023.10:g.153640455G>A	VUS	1 lab	94f32e592d
12:114823326 TBX5 C>T	12	114823326	114823326	C	T	TBX5	c.710G>A	NM_000192.3	NP_000183.2:p.(Arg237Gln)	NC_000012.11:g.114823326C>T	(Likely) pathogenic	1 lab	94f391e1f3
15:100537764 ADAMTS17 C>T	15	100537764	100537764	C	T	ADAMTS17	c.2622G>A	NM_139057.3	NP_620688.2:p.(Ser874=)	NC_000015.9:g.100537764C>T	(Likely) benign	1 lab	94f4086090
17:29677354 NF1 C>A	17	29677354	29677354	C	A	NF1	c.7394+18C>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29677354C>A	(Likely) benign	1 lab	94f47768f4
11:6652606 DCHS1 C>T	11	6652606	6652606	C	T	DCHS1				NC_000011.9:g.6652606C>T	VUS	1 lab	960deec6ac
6:3111139 RIPK1 C>G	6	3111139	3111139	C	G	RIPK1	c.1190C>G	NM_001317061.2	NP_001303990.1:p.(Thr397Arg)	NC_000006.11:g.3111139C>G	(Likely) benign	1 lab	94f584f5ce
19:56125552 ZNF865 C>T	19	56125552	56125552	C	T	ZNF865	c.568C>T	NM_001195605.1	NP_001182534.1:p.(Pro190Ser)	NC_000019.9:g.56125552C>T	(Likely) benign	1 lab	94f60e756e
16:11000403 CIITA G>A	16	11000403	11000403	G	A	CIITA	c.1057G>A	NM_001286402.1	NP_001273331.1:p.(Glu353Lys)	NC_000016.9:g.11000403G>A	(Likely) benign	1 lab	94f8aa0d3e
15:45403583 DUOX2 G>T	15	45403583	45403583	G	T	DUOX2	c.714C>A	NM_001363711.1	NP_001350640.1:p.(Tyr238Ter)	NC_000015.9:g.45403583G>T	(Likely) pathogenic	1 lab	94f9fe508f
2:219135315 PNKD C>T	2	219135315	219135315	C	T	PNKD	c.57C>T	NM_015488.4	NP_056303.3:p.(Arg19=)	NC_000002.11:g.219135315C>T	(Likely) benign	1 lab	94fac4d7ad
10:97366599 ALDH18A1 C>T	10	97366599	97366599	C	T	ALDH18A1	c.2308G>A	NM_001323413.1	NP_001310342.1:p.(Val770Met)	NC_000010.10:g.97366599C>T	VUS	1 lab	94fd289d78
2:202557654 MPP4 G>A	2	202557654	202557654	G	A	MPP4	c.178C>T	NM_033066.2	NP_149055.1:p.(Pro60Ser)	NC_000002.11:g.202557654G>A	VUS	1 lab	94fe305891
6:3106238 RIPK1 A>C	6	3106238	3106238	A	C	RIPK1	c.1040A>C	NM_001317061.2	NP_001303990.1:p.(Tyr347Ser)	NC_000006.11:g.3106238A>C	(Likely) benign	1 lab	94ff03cb7a
6:135769521 AHI1 A>C	6	135769521	135769521	A	C	AHI1	c.1533T>G	NM_001350503.1	NP_001337432.1:p.(Val511=)	NC_000006.11:g.135769521A>C	(Likely) benign	1 lab	95012c04f7
5:131972836 RAD50 T>TG	5	131972836	131972838	T	TG	RAD50	c.3421dup	NM_005732.3	NP_005723.2:p.(Glu1141GlyfsTer5)	NC_000005.9:g.131972838dup	(Likely) pathogenic	1 lab	95019b5644
7:117227862 CFTR C>T	7	117227862	117227862	C	T	CFTR	c.1654C>T	NM_000492.3	NP_000483.3:p.(Gln552Ter)	NC_000007.13:g.117227862C>T	(Likely) pathogenic	1 lab	9501d3b9cb
9:134381519 POMT1 T>C	9	134381519	134381519	T	C	POMT1	c.141T>C	NM_001136113.1	NP_001129585.1:p.(Tyr47=)	NC_000009.11:g.134381519T>C	(Likely) benign	1 lab	9502ef91de
4:47645151 CORIN C>A	4	47645151	47645151	C	A	CORIN	c.1969G>T	NM_001278586.1	NP_001265515.1:p.(Val657Phe)	NC_000004.11:g.47645151C>A	(Likely) benign	1 lab	9504203b6a
17:29654598 NF1 T>TA	17	29654598	29654599	T	TA	NF1	c.5288dup	NM_000267.3	NP_000258.1:p.(Tyr1763Ter)	NC_000017.10:g.29654599dup	(Likely) pathogenic	1 lab	95050ceb35
13:114325828 GRK1 A>G	13	114325828	114325828	A	G	GRK1	c.842A>G	NM_002929.3	NP_002920.1:p.(Asn281Ser)	NC_000013.10:g.114325828A>G	VUS	1 lab	9505a5d95c
12:49444987 KMT2D G>A	12	49444987	49444987	G	A	KMT2D	c.2479C>T	NM_003482.3	NP_003473.3:p.(Gln827Ter)	NC_000012.11:g.49444987G>A	(Likely) pathogenic	1 lab	9505e9e1ad
2:47221515 TTC7A C>T	2	47221515	47221515	C	T	TTC7A	c.863C>T	NM_001288951.1	NP_001275880.1:p.(Ala288Val)	NC_000002.11:g.47221515C>T	VUS	1 lab	95067e8134
12:102142917 GNPTAB A>G	12	102142917	102142917	A	G	GNPTAB	c.3655T>C	NM_024312.4	NP_077288.2:p.(Leu1219=)	NC_000012.11:g.102142917A>G	(Likely) benign	1 lab	9506d584d2
6:73017039 RIMS1 C>G	6	73017039	73017039	C	G	RIMS1	c.3929C>G	NM_014989.5	NP_055804.2:p.(Ser1310Cys)	NC_000006.11:g.73017039C>G	VUS	1 lab	9507dab0b7
18:56940149 RAX C>T	18	56940149	56940149	C	T	RAX	c.289+1G>A	NM_013435.2	NP_038463.2:p.?	NC_000018.9:g.56940149C>T	(Likely) pathogenic	1 lab	950898a04e
12:133331302 ANKLE2 T>C	12	133331302	133331302	T	C	ANKLE2	c.599A>G	NM_015114.2	NP_055929.1:p.(Tyr200Cys)	NC_000012.11:g.133331302T>C	VUS	1 lab	9509e4cdce
1:144917868 PDE4DIP A>C	1	144917868	144917868	A	C	PDE4DIP	c.1418T>G	NM_014644.5	NP_055459.5:p.(Leu473Trp)	NC_000001.10:g.144917868A>C	VUS	1 lab	950cf53f3b
15:74486132 STRA6 C>G	15	74486132	74486132	C	G	STRA6	c.837+9G>C	NM_001199042.1	NP_001185971.1:p.?	NC_000015.9:g.74486132C>G	(Likely) benign	1 lab	950d70e88e
19:18979758 GDF1 T>C	19	18979758	18979758	T	C	GDF1	c.767A>G	NM_001492.6	NP_001483.3:p.(Glu256Gly)	NC_000019.9:g.18979758T>C	VUS	1 lab	fe843ec1d3
1:218610694 TGFB2 G>A	1	218610694	218610694	G	A	TGFB2	c.1026G>A	NM_001135599.3	NP_001129071.1:p.(Gln342=)	NC_000001.10:g.218610694G>A	(Likely) benign	1 lab	950e2242ea
3:190106053 CLDN16 C>T	3	190106053	190106053	C	T	CLDN16	c.145C>T	NM_006580.3	NP_006571.1:p.(Arg49Cys)	NC_000003.11:g.190106053C>T	(Likely) benign	1 lab	950ef888df
15:48427091 SLC24A5 T>A	15	48427091	48427091	T	A	SLC24A5	c.500T>A	NM_205850.2	NP_995322.1:p.(Leu167Gln)	NC_000015.9:g.48427091T>A	VUS	1 lab	950ffc4fd1
2:130910274 SMPD4 G>A	2	130910274	130910274	G	A	SMPD4	c.2455C>T	NM_017951.4	NP_060421.2:p.(Leu819=)	NC_000002.11:g.130910274G>A	(Likely) benign	1 lab	95108ddc0b
12:103306595 PAH A>G	12	103306595	103306595	A	G	PAH	c.142T>C	NM_000277.1	NP_000268.1:p.(Leu48=)	NC_000012.11:g.103306595A>G	(Likely) pathogenic	1 lab	9511d08d25
2:179530496 TTN A>T	2	179530496	179530496	A	T	TTN	c.35898T>A	NM_001267550.1	NP_001254479.1:p.(Ile11966=)	NC_000002.11:g.179530496A>T	(Likely) benign	1 lab	9516d69ae1
8:106815093 ZFPM2 A>G	8	106815093	106815093	A	G	ZFPM2	c.2387A>G	NM_001362837.1	NP_001349766.1:p.(Asn796Ser)	NC_000008.10:g.106815093A>G	VUS	1 lab	9518a0ed22
1:25729087 RHCE G>A	1	25729087	25729087	G	A	RHCE	c.486C>T	NM_020485.5	NP_065231.3:p.(Asn162=)	NC_000001.10:g.25729087G>A	(Likely) benign	1 lab	9519aa73ee
15:38614583 SPRED1 C>T	15	38614583	38614583	C	T	SPRED1	c.349C>T	NM_152594.2	NP_689807.1:p.(Arg117Ter)	NC_000015.9:g.38614583C>T	(Likely) pathogenic	1 lab	951a277c1b
13:77566294 CLN5 C>T	13	77566294	77566294	C	T	CLN5	c.208C>T	NM_006493.2	NP_006484.1:p.(Arg70Trp)	NC_000013.10:g.77566294C>T	VUS	1 lab	951a5b9107
7:21920452 DNAH11 C>A	7	21920452	21920452	C	A	DNAH11				NC_000007.13:g.21920452C>A	(Likely) benign	1 lab	ba82331a18
1:173910452 RC3H1 G>A	1	173910452	173910452	G	A	RC3H1	c.3202C>T	NM_001300850.1	NP_001287779.1:p.(Pro1068Ser)	NC_000001.10:g.173910452G>A	(Likely) benign	1 lab	951aa00adc
22:32880030 FBXO7 A>G	22	32880030	32880030	A	G	FBXO7	c.564A>G	NM_012179.3	NP_036311.3:p.(Gln188=)	NC_000022.10:g.32880030A>G	(Likely) benign	1 lab	951c4dbb4c
5:167993078 PANK3 G>C	5	167993078	167993078	G	C	PANK3	c.575C>G	NM_024594.4	NP_078870.1:p.(Ser192Ter)	NC_000005.9:g.167993078G>C	VUS	1 lab	951de02f47
17:29663349 NF1 A>G	17	29663349	29663349	A	G	NF1	c.5944-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663349A>G	(Likely) pathogenic	1 lab	951fb6c54c
X:49071949 CACNA1F A>G	X	49071949	49071949	A	G	CACNA1F	c.3324T>C	NM_005183.3	NP_005174.2:p.(Asn1108=)	NC_000023.10:g.49071949A>G	(Likely) benign	1 lab	95216e46d0
3:132175596 DNAJC13 G>A	3	132175596	132175596	G	A	DNAJC13	c.1269G>A	NM_001329126.1	NP_001316055.1:p.(Ala423=)	NC_000003.11:g.132175596G>A	(Likely) benign	1 lab	952331d171
17:73839355 UNC13D A>T	17	73839355	73839355	A	T	UNC13D	c.154-8T>A	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73839355A>T	(Likely) benign	1 lab	95234a1f0f
8:145738761 RECQL4 A>G	8	145738761	145738761	A	G	RECQL4	c.2303T>C	NM_004260.3	NP_004251.3:p.(Val768Ala)	NC_000008.10:g.145738761A>G	VUS	1 lab	95235ba793
1:99157231 SNX7 A>C	1	99157231	99157231	A	C	SNX7	c.615A>C	NM_015976.5	NP_057060.2:p.(Lys205Asn)	NC_000001.10:g.99157231A>C	VUS	1 lab	95257de39a
16:21728239 OTOA G>C	16	21728239	21728239	G	C	OTOA	c.1500G>C	NM_144672.4	NP_653273.3:p.(Ala500=)	NC_000016.9:g.21728239G>C	(Likely) benign	1 lab	95258d30bf
16:75674252 KARS1 T>TAA	16	75674252	75674270	T	TAA	KARS1	c.307-7_307-6dup	NM_001130089.1	NP_001123561.1:p.?	NC_000016.9:g.75674269_75674270dup	(Likely) benign	1 lab	9526556195
1:27875464 AHDC1 G>A	1	27875464	27875464	G	A	AHDC1	c.3163C>T	NM_001029882.3	NP_001025053.1:p.(Arg1055Cys)	NC_000001.10:g.27875464G>A	VUS	1 lab	952689eead
17:42426660 GRN G>A	17	42426660	42426660	G	A	GRN	c.128G>A	NM_002087.2	NP_002078.1:p.(Arg43His)	NC_000017.10:g.42426660G>A	(Likely) benign	1 lab	952cccb82b
9:134004721 NUP214 G>A	9	134004721	134004721	G	A	NUP214	c.449G>A	NM_005085.3	NP_005076.3:p.(Gly150Asp)	NC_000009.11:g.134004721G>A	VUS	1 lab	952ce13261
14:23886903 MYH7 G>T	14	23886903	23886903	G	T	MYH7	c.4170-8C>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886903G>T	VUS	1 lab	95328473b1
2:179612218 TTN GA>G	2	179612218	179612221	GA	G	TTN	c.11312-5571del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612221del	(Likely) benign	1 lab	953347a92a
X:50350713 SHROOM4 C>CTCT	X	50350713	50350730	C	CTCT	SHROOM4	c.3426_3428dup	NM_020717.3	NP_065768.2:p.(Glu1151dup)	NC_000023.10:g.50350728_50350730dup	(Likely) benign	1 lab	95336e7319
X:48374174 PORCN T>C	X	48374174	48374174	T	C	PORCN	c.770T>C	NM_001282167.1	NP_001269096.1:p.(Leu257Pro)	NC_000023.10:g.48374174T>C	(Likely) pathogenic	1 lab	9534607b60
X:144329135 SPANXN1 G>A	X	144329135	144329135	G	A	SPANXN1	c.29G>A	NM_001009614.2	NP_001009614.1:p.(Gly10Glu)	NC_000023.10:g.144329135G>A	VUS	1 lab	9534b13241
X:49645264 USP27X C>T	X	49645264	49645264	C	T	USP27X	c.354C>T	NM_001145073.2	NP_001138545.1:p.(Pro118=)	NC_000023.10:g.49645264C>T	(Likely) benign	1 lab	9535bd463e
22:41913628 ACO2 C>T	22	41913628	41913628	C	T	ACO2	c.933C>T	NM_001098.2	NP_001089.1:p.(Gly311=)	NC_000022.10:g.41913628C>T	(Likely) benign	1 lab	9535c887c8
1:158607867 SPTA1 C>A	1	158607867	158607867	C	A	SPTA1	c.5145G>T	NM_003126.3	NP_003117.2:p.(Leu1715Phe)	NC_000001.10:g.158607867C>A	VUS	1 lab	9539161af4
16:67650724 CTCF C>G	16	67650724	67650724	C	G	CTCF	c.1029C>G	NM_006565.3	NP_006556.1:p.(Tyr343Ter)	NC_000016.9:g.67650724C>G	(Likely) pathogenic	1 lab	95395256e4
3:191107396 CCDC50 G>A	3	191107396	191107396	G	A	CCDC50	c.1429+5G>A	NM_178335.2	NP_848018.1:p.?	NC_000003.11:g.191107396G>A	VUS	1 lab	9539d2b113
1:155209816 GBA1 G>A	1	155209816	155209816	G	A	GBA1	c.168C>T	NM_001005741.2	NP_001005741.1:p.(Val56=)	NC_000001.10:g.155209816G>A	(Likely) benign	1 lab	953a2523c7
1:152275922 FLG G>A	1	152275922	152275922	G	A	FLG	c.11440C>T	NM_002016.1	NP_002007.1:p.(Arg3814Cys)	NC_000001.10:g.152275922G>A	(Likely) benign	1 lab	953a5bf300
9:133928252 LAMC3 C>T	9	133928252	133928252	C	T	LAMC3	c.1839C>T	NM_006059.3	NP_006050.3:p.(Ser613=)	NC_000009.11:g.133928252C>T	(Likely) benign	1 lab	953aa8d94e
6:43555049 POLH C>T	6	43555049	43555049	C	T	POLH	c.313C>T	NM_006502.2	NP_006493.1:p.(Arg105Cys)	NC_000006.11:g.43555049C>T	VUS	1 lab	953afec199
8:145619907 CPSF1 G>T	8	145619907	145619907	G	T	CPSF1	c.3519C>A	NM_013291.3	NP_037423.2:p.(Thr1173=)	NC_000008.10:g.145619907G>T	(Likely) benign	1 lab	953cd949c1
5:71491766 MAP1B G>A	5	71491766	71491766	G	A	MAP1B	c.2584G>A	NM_005909.5	NP_005900.2:p.(Glu862Lys)	NC_000005.9:g.71491766G>A	VUS	1 lab	fe8b092cd9
4:169799368 PALLD C>T	4	169799368	169799368	C	T	PALLD	c.326C>T	NM_001166110.1	NP_001159582.1:p.(Pro109Leu)	NC_000004.11:g.169799368C>T	VUS	1 lab	953f1873f3
X:54209510 FAM120C C>A	X	54209510	54209510	C	A	FAM120C	c.122G>T	NM_017848.5	NP_060318.4:p.(Arg41Leu)	NC_000023.10:g.54209510C>A	(Likely) benign	1 lab	953f868af4
12:124821367 NCOR2 G>A	12	124821367	124821367	G	A	NCOR2	c.6047C>T	NM_006312.5	NP_006303.4:p.(Ser2016Leu)	NC_000012.11:g.124821367G>A	(Likely) benign	1 lab	953fdd6595
20:3214830 SLC4A11 C>T	20	3214830	3214830	C	T	SLC4A11	c.551G>A	NM_001174090.1	NP_001167561.1:p.(Arg184His)	NC_000020.10:g.3214830C>T	(Likely) benign	1 lab	95413bb96e
14:77767549 POMT2 C>T	14	77767549	77767549	C	T	POMT2	c.700G>A	NM_013382.5	NP_037514.2:p.(Val234Ile)	NC_000014.8:g.77767549C>T	(Likely) benign	1 lab	9541464593
19:10472480 TYK2 T>C	19	10472480	10472480	T	C	TYK2	c.1925A>G	NM_003331.4	NP_003322.3:p.(Lys642Arg)	NC_000019.9:g.10472480T>C	VUS	1 lab	95443641b1
15:35085439 ACTC1 A>G	15	35085439	35085439	A	G	ACTC1	c.454+7T>C	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35085439A>G	(Likely) benign	1 lab	95457070a3
8:72211470 EYA1 T>G	8	72211470	72211470	T	G	EYA1	c.640-2A>C	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72211470T>G	(Likely) pathogenic	1 lab	954604d4a5
X:71360542 NHSL2 C>T	X	71360542	71360542	C	T	NHSL2	c.3144C>T	NM_001013627.2	NP_001013649.2:p.(Thr1048=)	NC_000023.10:g.71360542C>T	(Likely) benign	1 lab	9546409139
3:193332763 OPA1 C>T	3	193332763	193332763	C	T	OPA1	c.284C>T	NM_130837.2	NP_570850.2:p.(Thr95Met)	NC_000003.11:g.193332763C>T	VUS	1 lab	9546aa5173
1:27023512 ARID1A C>T	1	27023512	27023512	C	T	ARID1A	c.618C>T	NM_006015.4	NP_006006.3:p.(Gly206=)	NC_000001.10:g.27023512C>T	(Likely) benign	1 lab	9546cb6a11
1:156142788 SEMA4A C>A	1	156142788	156142788	C	A	SEMA4A	c.1306C>A	NM_022367.4	NP_071762.2:p.(Leu436Met)	NC_000001.10:g.156142788C>A	VUS	1 lab	9547484a6a
X:24073803 EIF2S3 T>C	X	24073803	24073803	T	C	EIF2S3	c.133+8T>C	NM_001415.3	NP_001406.1:p.?	NC_000023.10:g.24073803T>C	(Likely) benign	1 lab	954800cb58
17:29490245 NF1 C>CA	17	29490245	29490248	C	CA	NF1	c.333dup	NM_000267.3	NP_000258.1:p.(Gln112ThrfsTer15)	NC_000017.10:g.29490248dup	(Likely) pathogenic	1 lab	9548a4b3d8
22:50664718 TUBGCP6 C>T	22	50664718	50664718	C	T	TUBGCP6	c.1691G>A	NM_020461.3	NP_065194.2:p.(Arg564Gln)	NC_000022.10:g.50664718C>T	VUS	1 lab	9548c79b28
4:159629637 ETFDH G>A	4	159629637	159629637	G	A	ETFDH	c.1812G>A	NM_004453.3	NP_004444.2:p.(Val604=)	NC_000004.11:g.159629637G>A	(Likely) benign	1 lab	954b42ab8e
6:70966516 COL9A1 C>G	6	70966516	70966516	C	G	COL9A1	c.1458G>C	NM_001851.4	NP_001842.3:p.(Arg486=)	NC_000006.11:g.70966516C>G	(Likely) benign	1 lab	954bf9b81a
16:716545 WDR90 A>T	16	716545	716545	A	T	WDR90	c.4831A>T	NM_145294.5	NP_660337.3:p.(Asn1611Tyr)	NC_000016.9:g.716545A>T	VUS	1 lab	ddeb546814
9:86592653 HNRNPK G>C	9	86592653	86592653	G	C	HNRNPK	c.107C>G	NM_002140.4	NP_002131.2:p.(Ser36Cys)	NC_000009.11:g.86592653G>C	VUS	1 lab	954d2c0bfe
18:21913016 OSBPL1A G>A	18	21913016	21913016	G	A	OSBPL1A	c.515C>T	NM_080597.3	NP_542164.2:p.(Ser172Leu)	NC_000018.9:g.21913016G>A	(Likely) benign	1 lab	954dd3ef76
20:44050119 PIGT C>T	20	44050119	44050119	C	T	PIGT	c.1130C>T	NM_015937.5	NP_057021.2:p.(Pro377Leu)	NC_000020.10:g.44050119C>T	VUS	1 lab	954dd799d9
18:67671479 RTTN T>A	18	67671479	67671479	T	A	RTTN	c.6596-7A>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67671479T>A	(Likely) benign	1 lab	954e93cfe9
11:2189146 TH C>A	11	2189146	2189146	C	A	TH	c.687G>T	NM_199292.2	NP_954986.2:p.(Val229=)	NC_000011.9:g.2189146C>A	(Likely) benign	1 lab	9551ed80b7
20:10625551 JAG1 G>T	20	10625551	10625551	G	T	JAG1	c.2304C>A	NM_000214.3	NP_000205.1:p.(Cys768Ter)	NC_000020.10:g.10625551G>T	(Likely) pathogenic	1 lab	955201bbc8
3:123419711 MYLK G>A	3	123419711	123419711	G	A	MYLK	c.2604C>T	NM_053025.3	NP_444253.3:p.(Asp868=)	NC_000003.11:g.123419711G>A	(Likely) benign	1 lab	95543a4b82
1:22927858 EPHA8 G>A	1	22927858	22927858	G	A	EPHA8	c.2795G>A	NM_020526.5	NP_065387.1:p.(Gly932Asp)	NC_000001.10:g.22927858G>A	(Likely) benign	1 lab	955531bb12
6:152717987 SYNE1 A>T	6	152717987	152717987	A	T	SYNE1	c.7479T>A	NM_182961.3	NP_892006.3:p.(Asn2493Lys)	NC_000006.11:g.152717987A>T	(Likely) benign	1 lab	955897ba16
22:28194912 MN1 T>C	22	28194912	28194912	T	C	MN1	c.1620A>G	NM_002430.2	NP_002421.3:p.(Gln540=)	NC_000022.10:g.28194912T>C	(Likely) benign	1 lab	955a0eb41c
4:123664618 BBS12 A>G	4	123664618	123664618	A	G	BBS12	c.1571A>G	NM_001178007.1	NP_001171478.1:p.(Tyr524Cys)	NC_000004.11:g.123664618A>G	VUS	1 lab	955a26c135
5:70848999 BDP1 G>A	5	70848999	70848999	G	A	BDP1	c.7052G>A	NM_018429.2	NP_060899.2:p.(Gly2351Glu)	NC_000005.9:g.70848999G>A	(Likely) benign	1 lab	955abed840
9:312110 DOCK8 G>C	9	312110	312110	G	C	DOCK8	c.685G>C	NM_203447.3	NP_982272.2:p.(Ala229Pro)	NC_000009.11:g.312110G>C	(Likely) benign	1 lab	955b1899a5
1:151787120 RORC C>T	1	151787120	151787120	C	T	RORC	c.863G>A	NM_005060.4	NP_005051.2:p.(Arg288Gln)	NC_000001.10:g.151787120C>T	(Likely) benign	1 lab	955c1b5859
16:29495527 NPIPB12 G>A	16	29495527	29495527	G	A	NPIPB12	c.2270C>T	NM_001355401.1	NP_001342330.1:p.(Ala757Val)	NC_000016.9:g.29495527G>A	VUS	1 lab	955c9b62d1
19:7163140 INSR T>G	19	7163140	7163140	T	G	INSR	c.1932A>C	NM_000208.4	NP_000199.2:p.(Pro644=)	NC_000019.9:g.7163140T>G	(Likely) benign	1 lab	fe8ed8cb1c
11:76890971 MYO7A G>T	11	76890971	76890971	G	T	MYO7A	c.2558G>T	NM_000260.3	NP_000251.3:p.(Arg853Leu)	NC_000011.9:g.76890971G>T	VUS	1 lab	955fd5440e
1:120480612 NOTCH2 G>T	1	120480612	120480612	G	T	NOTCH2	c.3205C>A	NM_024408.3	NP_077719.2:p.(Arg1069=)	NC_000001.10:g.120480612G>T	(Likely) benign	1 lab	95602e5362
6:129581874 LAMA2 T>G	6	129581874	129581874	T	G	LAMA2	c.2115T>G	NM_000426.3	NP_000417.2:p.(Leu705=)	NC_000006.11:g.129581874T>G	(Likely) benign	1 lab	95619ef87f
5:43162022 ZNF131 G>A	5	43162022	43162022	G	A	ZNF131	c.1043G>A	NM_001297548.2	NP_001284477.1:p.(Arg348Gln)	NC_000005.9:g.43162022G>A	VUS	1 lab	9564ce6cac
21:34900636 GART G>A	21	34900636	34900636	G	A	GART	c.903C>T	NM_001136005.1	NP_001129477.1:p.(Ile301=)	NC_000021.8:g.34900636G>A	(Likely) benign	1 lab	9565290831
9:130478425 TTC16 A>G	9	130478425	130478425	A	G	TTC16	c.1A>G	NM_144965.3	NP_659402.1:p.(Met1?)	NC_000009.11:g.130478425A>G	VUS	1 lab	956919bf06
12:110019191 MVK G>A	12	110019191	110019191	G	A	MVK	c.372-9G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110019191G>A	(Likely) benign	1 lab	956aa490b4
4:155253822 DCHS2 G>C	4	155253822	155253822	G	C	DCHS2	c.3538C>G	NM_001358235.1	NP_001345164.1:p.(Arg1180Gly)	NC_000004.11:g.155253822G>C	(Likely) benign	1 lab	956c390947
8:43047479 HGSNAT T>G	8	43047479	43047479	T	G	HGSNAT	c.1283T>G	NM_152419.2	NP_689632.2:p.(Phe428Cys)	NC_000008.10:g.43047479T>G	VUS	1 lab	956fa72fc6
12:49434708 KMT2D C>A	12	49434708	49434708	C	A	KMT2D	c.6845G>T	NM_003482.3	NP_003473.3:p.(Arg2282Leu)	NC_000012.11:g.49434708C>A	VUS	1 lab	95704f6ed7
9:137698120 COL5A1 C>T	9	137698120	137698120	C	T	COL5A1	c.3344C>T	NM_000093.4	NP_000084.3:p.(Pro1115Leu)	NC_000009.11:g.137698120C>T	VUS	1 lab	9572079be1
19:1009382 GRIN3B C>T	19	1009382	1009382	C	T	GRIN3B	c.2913C>T	NM_138690.2	NP_619635.1:p.(Ala971=)	NC_000019.9:g.1009382C>T	(Likely) benign	1 lab	957317aff5
6:80629182 ELOVL4 A>C	6	80629182	80629182	A	C	ELOVL4	c.624T>G	NM_022726.3	NP_073563.1:p.(Ile208Met)	NC_000006.11:g.80629182A>C	VUS	1 lab	95735df98b
17:29556027 NF1 A>G	17	29556027	29556027	A	G	NF1	c.2410-16A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556027A>G	VUS	1 lab	9573a9fc4c
5:89977183 ADGRV1 A>G	5	89977183	89977183	A	G	ADGRV1	c.5576A>G	NM_032119.4	NP_115495.3:p.(His1859Arg)	NC_000005.9:g.89977183A>G	(Likely) benign	1 lab	95743a48e7
6:56443603 DST A>G	6	56443603	56443603	A	G	DST	c.6670+9T>C	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56443603A>G	(Likely) benign	1 lab	957575ea92
3:119133120 ARHGAP31 C>A	3	119133120	119133120	C	A	ARHGAP31	c.2344C>A	NM_020754.3	NP_065805.2:p.(Pro782Thr)	NC_000003.11:g.119133120C>A	(Likely) benign	1 lab	957946f07e
11:64026046 PLCB3 G>A	11	64026046	64026046	G	A	PLCB3	c.1114G>A	NM_000932.2	NP_000923.1:p.(Glu372Lys)	NC_000011.9:g.64026046G>A	VUS	1 lab	95795b90a5
1:57538035 DAB1 A>G	1	57538035	57538035	A	G	DAB1	c.359T>C	NM_021080.4	NP_066566.3:p.(Ile120Thr)	NC_000001.10:g.57538035A>G	(Likely) benign	1 lab	957d44de7a
17:29509684 NF1 G>T	17	29509684	29509684	G	T	NF1	c.888+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509684G>T	(Likely) pathogenic	1 lab	958053233a
5:140905715 DIAPH1 C>T	5	140905715	140905715	C	T	DIAPH1	c.3464G>A	NM_001314007.1	NP_001300936.1:p.(Arg1155Gln)	NC_000005.9:g.140905715C>T	VUS	1 lab	9580dad391
1:13716801 PRAMEF17 G>C	1	13716801	13716801	G	C	PRAMEF17	c.288G>C	NM_001099851.3	NP_001093321.1:p.(Arg96Ser)	NC_000001.10:g.13716801G>C	VUS	1 lab	95818a0d0e
8:99217446 NIPAL2 G>A	8	99217446	99217446	G	A	NIPAL2	c.684C>T	NM_024759.2	NP_079035.1:p.(Ala228=)	NC_000008.10:g.99217446G>A	(Likely) benign	1 lab	9581b4894f
17:7127343 ACADVL G>A	17	7127343	7127343	G	A	ACADVL	c.1161G>A	NM_001270448.1	NP_001257377.1:p.(Gly387=)	NC_000017.10:g.7127343G>A	(Likely) benign	1 lab	958254b313
3:186383987 HRG C>T	3	186383987	186383987	C	T	HRG	c.167C>T	NM_000412.5	NP_000403.1:p.(Ala56Val)	NC_000003.11:g.186383987C>T	(Likely) benign	1 lab	fe98e73ed9
10:102509556 PAX2 C>T	10	102509556	102509556	C	T	PAX2	c.97C>T	NM_003988.4	NP_003979.2:p.(Leu33=)	NC_000010.10:g.102509556C>T	(Likely) benign	1 lab	9587885306
6:32049982 TNXB G>A	6	32049982	32049982	G	A	TNXB	c.3567C>T	NM_019105.6	NP_061978.6:p.(Phe1189=)	NC_000006.11:g.32049982G>A	(Likely) benign	1 lab	95889d9102
4:3117936 HTT C>T	4	3117936	3117936	C	T	HTT	c.1020C>T	NM_002111.8	NP_002102.4:p.(Phe340=)	NC_000004.11:g.3117936C>T	(Likely) benign	1 lab	958a4f6f08
17:29528141 NF1 C>A	17	29528141	29528141	C	A	NF1	c.1149C>A	NM_000267.3	NP_000258.1:p.(Cys383Ter)	NC_000017.10:g.29528141C>A	(Likely) pathogenic	1 lab	958ac0bf45
17:29586122 NF1 A>T	17	29586122	29586122	A	T	NF1	c.4342A>T	NM_000267.3	NP_000258.1:p.(Lys1448Ter)	NC_000017.10:g.29586122A>T	(Likely) pathogenic	1 lab	958b12392e
2:122135107 CLASP1 T>C	2	122135107	122135107	T	C	CLASP1	c.3610A>G	NM_015282.2	NP_056097.1:p.(Ile1204Val)	NC_000002.11:g.122135107T>C	(Likely) benign	1 lab	958d6bf394
17:27185829 ERAL1 T>C	17	27185829	27185829	T	C	ERAL1	c.944T>C	NM_001317985.1	NP_001304914.1:p.(Val315Ala)	NC_000017.10:g.27185829T>C	VUS	1 lab	958daf9481
3:4735389 ITPR1 C>T	3	4735389	4735389	C	T	ITPR1	c.4200C>T	NM_001168272.1	NP_001161744.1:p.(Ile1400=)	NC_000003.11:g.4735389C>T	(Likely) benign	1 lab	958e0c59d8
2:179664595 TTN G>A	2	179664595	179664595	G	A	TTN	c.626C>T	NM_001267550.1	NP_001254479.1:p.(Ser209Leu)	NC_000002.11:g.179664595G>A	VUS	1 lab	958eba4592
11:118377216 KMT2A A>G	11	118377216	118377216	A	G	KMT2A	c.10609A>G	NM_001197104.1	NP_001184033.1:p.(Thr3537Ala)	NC_000011.9:g.118377216A>G	VUS	1 lab	9591064a91
17:76122886 TMC6 C>T	17	76122886	76122886	C	T	TMC6	c.28G>A	NM_001127198.2	NP_001120670.1:p.(Asp10Asn)	NC_000017.10:g.76122886C>T	(Likely) benign	1 lab	9593178309
12:53202194 KRT4 G>A	12	53202194	53202194	G	A	KRT4	c.1009C>T	NM_002272.3	NP_002263.3:p.(Leu337Phe)	NC_000012.11:g.53202194G>A	VUS	1 lab	95958809c5
1:214503514 SMYD2 T>C	1	214503514	214503514	T	C	SMYD2	c.709T>C	NM_020197.3	NP_064582.2:p.(Phe237Leu)	NC_000001.10:g.214503514T>C	(Likely) benign	1 lab	959737b510
1:3329147 PRDM16 G>A	1	3329147	3329147	G	A	PRDM16	c.2386G>A	NM_022114.3	NP_071397.3:p.(Ala796Thr)	NC_000001.10:g.3329147G>A	(Likely) benign	1 lab	95973b84e1
11:36615615 RAG2 C>G	11	36615615	36615615	C	G	RAG2	c.104G>C	NM_001243786.1	NP_001230715.1:p.(Gly35Ala)	NC_000011.9:g.36615615C>G	(Likely) pathogenic	1 lab	95978bf1ff
16:75669878 KARS1 A>G	16	75669878	75669878	A	G	KARS1	c.685T>C	NM_001130089.1	NP_001123561.1:p.(Tyr229His)	NC_000016.9:g.75669878A>G	(Likely) benign	1 lab	959823fe00
16:70302217 AARS1 C>G	16	70302217	70302217	C	G	AARS1	c.1028G>C	NM_001605.2	NP_001596.2:p.(Arg343Thr)	NC_000016.9:g.70302217C>G	(Likely) benign	1 lab	9598d7c13b
2:179459095 TTN G>A	2	179459095	179459095	G	A	TTN	c.58126C>T	NM_001267550.1	NP_001254479.1:p.(Pro19376Ser)	NC_000002.11:g.179459095G>A	VUS	1 lab	959ab831dd
5:90073780 ADGRV1 C>T	5	90073780	90073780	C	T	ADGRV1	c.12586C>T	NM_032119.4	NP_115495.3:p.(Pro4196Ser)	NC_000005.9:g.90073780C>T	VUS	1 lab	959c0c9355
11:64522183 PYGM G>A	11	64522183	64522183	G	A	PYGM	c.717C>T	NM_001164716.1	NP_001158188.1:p.(Phe239=)	NC_000011.9:g.64522183G>A	(Likely) benign	1 lab	959d2d6926
16:27414397 IL21R G>A	16	27414397	27414397	G	A	IL21R	c.-91-4G>A	NM_181079.4	NP_851565.4:p.?	NC_000016.9:g.27414397G>A	(Likely) benign	1 lab	959d486017
20:10639115 JAG1 C>T	20	10639115	10639115	C	T	JAG1	c.694+1G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639115C>T	(Likely) pathogenic	1 lab	959e13ae13
16:89355673 ANKRD11 GTTTC>G	16	89355673	89355680	GTTTC	G	ANKRD11	c.602-599_602-596del	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89355677_89355680del	VUS	1 lab	fe9a4965c5
9:140056421 GRIN1 C>T	9	140056421	140056421	C	T	GRIN1	c.1513C>T	NM_007327.3	NP_015566.1:p.(Leu505=)	NC_000009.11:g.140056421C>T	(Likely) benign	1 lab	959f0b95b9
3:43640011 ANO10 CATA>C	3	43640011	43640016	CATA	C	ANO10	c.472+10_472+12del	NM_018075.5	NP_060545.3:p.?	NC_000003.11:g.43640014_43640016del	(Likely) benign	1 lab	959f24b836
10:124793597 ACADSB A>G	10	124793597	124793597	A	G	ACADSB	c.43-275A>G	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124793597A>G	(Likely) benign	1 lab	959f26145f
X:47104470 USP11 C>T	X	47104470	47104470	C	T	USP11	c.2271C>T	NM_004651.3	NP_004642.2:p.(Asp757=)	NC_000023.10:g.47104470C>T	(Likely) benign	1 lab	95a06c6e15
7:42017182 GLI3 T>G	7	42017182	42017182	T	G	GLI3	c.1787A>C	NM_000168.5	NP_000159.3:p.(His596Pro)	NC_000007.13:g.42017182T>G	VUS	1 lab	95a06f63e9
1:110155365 GNAT2 TCTCA>T	1	110155365	110155374	TCTCA	T	GNAT2	c.118+6_118+9del	NM_001377295.2	NP_001364224.1:p.?	NC_000001.10:g.110155371_110155374del	(Likely) benign	1 lab	95a13364b8
9:135787679 TSC1 CTG>C	9	135787679	135787686	CTG	C	TSC1	c.901_902del	NM_000368.5	NP_000359.1:p.(Gln301GlufsTer2)	NC_000009.11:g.135787685_135787686del	(Likely) pathogenic	1 lab	95a299a6a8
10:13708273 FRMD4A G>A	10	13708273	13708273	G	A	FRMD4A	c.1526C>T	NM_001318337.1	NP_001305266.1:p.(Thr509Met)	NC_000010.10:g.13708273G>A	VUS	1 lab	95a326a886
12:110656021 IFT81 TA>T	12	110656021	110656023	TA	T	IFT81	c.2023del	NM_014055.4	NP_054774.2:p.(Ile675TyrfsTer23)	NC_000012.11:g.110656023del	(Likely) pathogenic	1 lab	95a43c1dc7
17:73949688 ACOX1 C>G	17	73949688	73949688	C	G	ACOX1	c.788G>C	NM_004035.7	NP_004026.2:p.(Gly263Ala)	NC_000017.10:g.73949688C>G	VUS	1 lab	fe9fa3d597
1:207532881 CD55 T>TTA	1	207532881	207532882	T	TTA	CD55	c.1200-10_1200-9insTA	NM_001114752.2	NP_001108224.1:p.?	NC_000001.10:g.207532881_207532882insTA	(Likely) benign	1 lab	95a4cf76cf
11:46727139 ZNF408 G>C	11	46727139	46727139	G	C	ZNF408	c.1889G>C	NM_024741.2	NP_079017.1:p.(Arg630Pro)	NC_000011.9:g.46727139G>C	VUS	1 lab	95a51fa79a
3:183013090 MCF2L2 G>A	3	183013090	183013090	G	A	MCF2L2	c.1673C>T	NM_015078.3	NP_055893.3:p.(Ser558Leu)	NC_000003.11:g.183013090G>A	VUS	1 lab	95a617a3a6
X:101971095 GPRASP2 C>T	X	101971095	101971095	C	T	GPRASP2	c.1298C>T	NM_001184874.2	NP_001171803.1:p.(Ala433Val)	NC_000023.10:g.101971095C>T	(Likely) benign	1 lab	95a8dd47eb
11:65638844 EFEMP2 G>A	11	65638844	65638844	G	A	EFEMP2	c.161-10C>T	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65638844G>A	(Likely) benign	1 lab	95a902c67c
17:8791595 PIK3R5 G>T	17	8791595	8791595	G	T	PIK3R5	c.351C>A	NM_001251851.1	NP_001238780.1:p.(Arg117=)	NC_000017.10:g.8791595G>T	(Likely) benign	1 lab	95a94a3883
2:241710564 KIF1A G>A	2	241710564	241710564	G	A	KIF1A	c.1240C>T	NM_001330290.1	NP_001317219.1:p.(Arg414Cys)	NC_000002.11:g.241710564G>A	(Likely) benign	1 lab	95ac92cfc1
X:32591705 DMD A>C	X	32591705	32591705	A	C	DMD	c.1385T>G	NM_004010.3	NP_004001.1:p.(Ile462Ser)	NC_000023.10:g.32591705A>C	VUS	1 lab	95aca4dd54
20:25060087 VSX1 T>C	20	25060087	25060087	T	C	VSX1	c.488A>G	NM_014588.5	NP_055403.2:p.(Lys163Arg)	NC_000020.10:g.25060087T>C	VUS	1 lab	95ad53213d
13:77574645 CLN5 A>C	13	77574645	77574645	A	C	CLN5	c.765A>C	NM_006493.2	NP_006484.1:p.(Gly255=)	NC_000013.10:g.77574645A>C	(Likely) benign	1 lab	95aff86aa3
14:102552222 HSP90AA1 G>A	14	102552222	102552222	G	A	HSP90AA1	c.768C>T	NM_001017963.2	NP_001017963.2:p.(Phe256=)	NC_000014.8:g.102552222G>A	(Likely) benign	1 lab	95b161c073
X:102339312 NXF3 C>G	X	102339312	102339312	C	G	NXF3	c.309G>C	NM_022052.1	NP_071335.1:p.(Gly103=)	NC_000023.10:g.102339312C>G	(Likely) benign	1 lab	95b25d3d46
1:5965381 NPHP4 C>T	1	5965381	5965381	C	T	NPHP4	c.1926G>A	NM_015102.4	NP_055917.1:p.(Glu642=)	NC_000001.10:g.5965381C>T	(Likely) benign	1 lab	95b2971464
9:32989852 APTX C>T	9	32989852	32989852	C	T	APTX	c.38G>A	NM_001195249.1	NP_001182178.1:p.(Arg13Gln)	NC_000009.11:g.32989852C>T	(Likely) benign	1 lab	95b362b5bc
10:27815822 RAB18 A>G	10	27815822	27815822	A	G	RAB18	c.186+4A>G	NM_001256410.1	NP_001243339.1:p.?	NC_000010.10:g.27815822A>G	VUS	1 lab	95b475497c
7:150706640 NOS3 G>A	7	150706640	150706640	G	A	NOS3	c.2479G>A	NM_000603.5	NP_000594.2:p.(Val827Met)	NC_000007.13:g.150706640G>A	(Likely) benign	1 lab	fea4e2b1e7
17:4904603 KIF1C C>T	17	4904603	4904603	C	T	KIF1C	c.270C>T	NM_006612.5	NP_006603.2:p.(Asn90=)	NC_000017.10:g.4904603C>T	(Likely) benign	1 lab	95b67f7bb4
15:90193173 KIF7 C>T	15	90193173	90193173	C	T	KIF7	c.329-1G>A	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90193173C>T	(Likely) pathogenic	1 lab	95b734ae38
X:41429002 CASK G>A	X	41429002	41429002	G	A	CASK	c.1504-3C>T	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41429002G>A	VUS	1 lab	95b875659b
7:103322612 RELN C>T	7	103322612	103322612	C	T	RELN	c.1240G>A	NM_005045.3	NP_005036.2:p.(Glu414Lys)	NC_000007.13:g.103322612C>T	VUS	1 lab	95bb4a4487
19:12739183 ZNF791 A>G	19	12739183	12739183	A	G	ZNF791	c.840A>G	NM_153358.2	NP_699189.2:p.(Ala280=)	NC_000019.9:g.12739183A>G	(Likely) benign	1 lab	95bc9c1de3
7:150878144 ASB10 G>A	7	150878144	150878144	G	A	ASB10	c.986C>T	NM_001142460.1	NP_001135932.2:p.(Thr329Met)	NC_000007.13:g.150878144G>A	VUS	1 lab	95bf830030
14:100384160 EML1 G>A	14	100384160	100384160	G	A	EML1	c.1851G>A	NM_001008707.1	NP_001008707.1:p.(Val617=)	NC_000014.8:g.100384160G>A	(Likely) benign	1 lab	95bf9e6c9b
5:67591040 PIK3R1 T>C	5	67591040	67591040	T	C	PIK3R1	c.1633T>C	NM_181523.2	NP_852664.1:p.(Leu545=)	NC_000005.9:g.67591040T>C	(Likely) benign	1 lab	95c16671d2
X:135430793 ADGRG4 C>T	X	135430793	135430793	C	T	ADGRG4	c.4928C>T	NM_153834.3	NP_722576.3:p.(Thr1643Met)	NC_000023.10:g.135430793C>T	(Likely) benign	1 lab	95c19bec57
9:95048868 IARS1 G>A	9	95048868	95048868	G	A	IARS1	c.429C>T	NM_013417.3	NP_038203.2:p.(Asp143=)	NC_000009.11:g.95048868G>A	(Likely) benign	1 lab	95c366a711
16:67680205 CARMIL2 G>A	16	67680205	67680205	G	A	CARMIL2	c.366G>A	NM_001013838.2	NP_001013860.1:p.(Ser122=)	NC_000016.9:g.67680205G>A	(Likely) benign	1 lab	95c462e21b
10:13330471 PHYH G>C	10	13330471	13330471	G	C	PHYH	c.267C>G	NM_001323080.1	NP_001310009.1:p.(Ile89Met)	NC_000010.10:g.13330471G>C	VUS	1 lab	95c4c62c72
9:35714633 TLN1 C>T	9	35714633	35714633	C	T	TLN1	c.2923G>A	NM_006289.4	NP_006280.3:p.(Ala975Thr)	NC_000009.11:g.35714633C>T	(Likely) benign	1 lab	95c6ba7f5b
5:127693082 FBN2 T>G	5	127693082	127693082	T	G	FBN2	c.2560A>C	NM_001999.3	NP_001990.2:p.(Asn854His)	NC_000005.9:g.127693082T>G	VUS	1 lab	95c6e80109
2:73828017 ALMS1 C>A	2	73828017	73828017	C	A	ALMS1	c.11875+9C>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73828017C>A	(Likely) benign	1 lab	95c6f15fe2
16:2814902 SRRM2 G>T	16	2814902	2814902	G	T	SRRM2	c.4373G>T	NM_016333.4	NP_057417.3:p.(Ser1458Ile)	NC_000016.9:g.2814902G>T	VUS	1 lab	95c79e6e54
5:73985236 HEXB T>G	5	73985236	73985236	T	G	HEXB	c.383T>G	NM_000521.3	NP_000512.1:p.(Leu128Arg)	NC_000005.9:g.73985236T>G	(Likely) benign	1 lab	95c7dc05e8
19:42486088 ATP1A3 G>A	19	42486088	42486088	G	A	ATP1A3	c.1203C>T	NM_001256214.1	NP_001243143.1:p.(His401=)	NC_000019.9:g.42486088G>A	(Likely) benign	1 lab	95c8f3a9bb
18:43492340 EPG5 C>T	18	43492340	43492340	C	T	EPG5	c.3898G>A	NM_020964.3	NP_066015.2:p.(Val1300Ile)	NC_000018.9:g.43492340C>T	(Likely) benign	1 lab	95c92e5975
22:30070873 NF2 G>A	22	30070873	30070873	G	A	NF2	c.1389G>A	NM_181832.2	NP_861970.1:p.(Glu463=)	NC_000022.10:g.30070873G>A	(Likely) benign	1 lab	95c98c5251
1:242020652 EXO1 C>T	1	242020652	242020652	C	T	EXO1	c.411C>T	NM_130398.3	NP_569082.2:p.(Ala137=)	NC_000001.10:g.242020652C>T	(Likely) benign	1 lab	95c994fe19
2:163130441 IFIH1 TC>T	2	163130441	163130442	TC	T	IFIH1	c.2317del	NM_022168.4	NP_071451.2:p.(Glu773LysfsTer11)	NC_000002.11:g.163130442del	VUS	1 lab	95cbb7f682
11:134010577 JAM3 G>A	11	134010577	134010577	G	A	JAM3	c.168G>A	NM_032801.4	NP_116190.3:p.(Thr56=)	NC_000011.9:g.134010577G>A	(Likely) benign	1 lab	95cbd15f83
17:18041529 MYO15A G>A	17	18041529	18041529	G	A	MYO15A	c.4976G>A	NM_016239.3	NP_057323.3:p.(Arg1659Gln)	NC_000017.10:g.18041529G>A	VUS	1 lab	95ccb5d3bb
9:131396964 DYNC2I2 G>A	9	131396964	131396964	G	A	DYNC2I2	c.1214+4C>T	NM_052844.3	NP_443076.2:p.?	NC_000009.11:g.131396964G>A	(Likely) benign	1 lab	95ccdd17a7
11:63978840 FERMT3 C>T	11	63978840	63978840	C	T	FERMT3	c.608C>T	NM_178443.2	NP_848537.1:p.(Pro203Leu)	NC_000011.9:g.63978840C>T	VUS	1 lab	95cdeba553
2:149240670 MBD5 TC>T	2	149240670	149240671	TC	T	MBD5	c.2519-8del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149240671del	(Likely) benign	1 lab	95cdee6bf3
19:5144892 KDM4B C>T	19	5144892	5144892	C	T	KDM4B	c.3000C>T	NM_015015.3	NP_055830.1:p.(Ser1000=)	NC_000019.9:g.5144892C>T	(Likely) benign	1 lab	95ce934033
9:35739621 GBA2 G>A	9	35739621	35739621	G	A	GBA2	c.1582+4C>T	NM_020944.2	NP_065995.1:p.?	NC_000009.11:g.35739621G>A	(Likely) benign	1 lab	95cf755071
11:57106074 P2RX3 T>C	11	57106074	57106074	T	C	P2RX3	c.50T>C	NM_002559.4	NP_002550.2:p.(Val17Ala)	NC_000011.9:g.57106074T>C	VUS	1 lab	95d01f39e4
3:47036848 NBEAL2 A>G	3	47036848	47036848	A	G	NBEAL2	c.1623A>G	NM_015175.2	NP_055990.1:p.(Pro541=)	NC_000003.11:g.47036848A>G	(Likely) benign	1 lab	95d0835a2a
5:137893123 HSPA9 C>T	5	137893123	137893123	C	T	HSPA9	c.1696G>A	NM_004134.7	NP_004125.3:p.(Glu566Lys)	NC_000005.9:g.137893123C>T	VUS	1 lab	fea7b97f9a
X:153593297 FLNA A>G	X	153593297	153593297	A	G	FLNA	c.1720T>C	NM_001110556.2	NP_001104026.1:p.(Cys574Arg)	NC_000023.10:g.153593297A>G	VUS	1 lab	95d0eb4bdb
6:71508417 SMAP1 G>A	6	71508417	71508417	G	A	SMAP1	c.472G>A	NM_001281439.1	NP_001268368.1:p.(Ala158Thr)	NC_000006.11:g.71508417G>A	(Likely) benign	1 lab	95d2093a57
13:32937584 BRCA2 CAG>C	13	32937584	32937587	CAG	C	BRCA2	c.8247_8248del	NM_000059.4	NP_000050.3:p.(Lys2750AspfsTer13)	NC_000013.10:g.32937586_32937587del	(Likely) pathogenic	1 lab	95d438cc0d
8:11990004 USP17L7 G>A	8	11990004	11990004	G	A	USP17L7	c.1515C>T	NM_001256869.1	NP_001243798.1:p.(Leu505=)	NC_000008.10:g.11990004G>A	(Likely) benign	1 lab	95d4e9c583
4:166951603 TLL1 A>C	4	166951603	166951603	A	C	TLL1	c.1158+5020A>C	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166951603A>C	VUS	1 lab	fea8deee96
9:14842415 FREM1 C>T	9	14842415	14842415	C	T	FREM1	c.1637G>A	NM_144966.5	NP_659403.4:p.(Arg546Gln)	NC_000009.11:g.14842415C>T	VUS	1 lab	95d6c38ced
X:48980062 GPKOW G>C	X	48980062	48980062	G	C	GPKOW	c.11C>G	NM_015698.5	NP_056513.2:p.(Ser4Cys)	NC_000023.10:g.48980062G>C	(Likely) benign	1 lab	95d6cf32d1
X:18929036 PHKA2 C>T	X	18929036	18929036	C	T	PHKA2	c.2180G>A	NM_000292.2	NP_000283.1:p.(Arg727His)	NC_000023.10:g.18929036C>T	VUS	1 lab	95d73ab7e1
13:32915357 BRCA2 G>A	13	32915357	32915357	G	A	BRCA2	c.6841+24G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915357G>A	(Likely) benign	1 lab	95d85401fb
16:15704871 MARF1 G>A	16	15704871	15704871	G	A	MARF1	c.3712C>T	NM_001184998.1	NP_001171927.1:p.(Gln1238Ter)	NC_000016.9:g.15704871G>A	VUS	1 lab	95d9a7ff27
3:27216204 NEK10 C>T	3	27216204	27216204	C	T	NEK10	c.2626G>A	NM_152534.4	NP_689747.3:p.(Glu876Lys)	NC_000003.11:g.27216204C>T	(Likely) benign	1 lab	95da5a05ec
13:48542827 SUCLA2 T>A	13	48542827	48542827	T	A	SUCLA2	c.705A>T	NM_003850.2	NP_003841.1:p.(Ser235=)	NC_000013.10:g.48542827T>A	(Likely) benign	1 lab	95db9cbe73
1:152278504 FLG C>T	1	152278504	152278504	C	T	FLG	c.8858G>A	NM_002016.1	NP_002007.1:p.(Arg2953His)	NC_000001.10:g.152278504C>T	(Likely) benign	1 lab	95dbdab2b1
18:21119909 NPC1 C>T	18	21119909	21119909	C	T	NPC1	c.2661G>A	NM_000271.4	NP_000262.2:p.(Pro887=)	NC_000018.9:g.21119909C>T	(Likely) benign	1 lab	95dc059bec
2:74595835 DCTN1 A>T	2	74595835	74595835	A	T	DCTN1	c.1854+20T>A	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74595835A>T	(Likely) benign	1 lab	95dc4b8dad
8:107531287 OXR1 T>C	8	107531287	107531287	T	C	OXR1	c.140T>C	NM_001198533.1	NP_001185462.1:p.(Ile47Thr)	NC_000008.10:g.107531287T>C	(Likely) benign	1 lab	95dc65a344
X:38147239 RPGR T>A	X	38147239	38147239	T	A	RPGR	c.1628A>T	NM_001034853.1	NP_001030025.1:p.(Asp543Val)	NC_000023.10:g.38147239T>A	VUS	1 lab	95dc6c405b
10:89514484 ATAD1 G>A	10	89514484	89514484	G	A	ATAD1	c.1046C>T	NM_032810.3	NP_116199.2:p.(Ala349Val)	NC_000010.10:g.89514484G>A	(Likely) benign	1 lab	95de5a4e46
21:47848459 PCNT G>A	21	47848459	47848459	G	A	PCNT	c.7645G>A	NM_006031.5	NP_006022.3:p.(Ala2549Thr)	NC_000021.8:g.47848459G>A	(Likely) benign	1 lab	95df8bf7ae
6:31842711 SLC44A4 G>A	6	31842711	31842711	G	A	SLC44A4	c.109C>T	NM_001178045.1	NP_001171516.1:p.(Pro37Ser)	NC_000006.11:g.31842711G>A	VUS	1 lab	95dfe15285
8:27358496 EPHX2 G>A	8	27358496	27358496	G	A	EPHX2	c.155G>A	NM_001979.5	NP_001970.2:p.(Arg52Gln)	NC_000008.10:g.27358496G>A	(Likely) benign	1 lab	95e2482fe2
X:117758593 DOCK11 A>G	X	117758593	117758593	A	G	DOCK11	c.3563A>G	NM_144658.3	NP_653259.3:p.(Tyr1188Cys)	NC_000023.10:g.117758593A>G	(Likely) benign	1 lab	95e40369e8
3:38888954 SCN11A G>A	3	38888954	38888954	G	A	SCN11A	c.4607C>T	NM_014139.2	NP_054858.2:p.(Thr1536Ile)	NC_000003.11:g.38888954G>A	VUS	1 lab	95e4159274
14:88903921 SPATA7 CAAAAT>C	14	88903921	88903929	CAAAAT	C	SPATA7	c.1199_1203del	NM_018418.5	NP_060888.2:p.(Asn400ThrfsTer31)	NC_000014.8:g.88903925_88903929del	(Likely) pathogenic	1 lab	95e501422f
14:105418198 AHNAK2 A>C	14	105418198	105418198	A	C	AHNAK2	c.3590T>G	NM_138420.3	NP_612429.2:p.(Val1197Gly)	NC_000014.8:g.105418198A>C	(Likely) benign	1 lab	95e51e711c
12:116440887 MED13L G>C	12	116440887	116440887	G	C	MED13L	c.2490C>G	NM_015335.4	NP_056150.1:p.(Arg830=)	NC_000012.11:g.116440887G>C	(Likely) benign	1 lab	95e61975b7
1:120438243 ADAM30 GGT>G	1	120438243	120438247	GGT	G	ADAM30	c.715_716del	NM_021794.4	NP_068566.2:p.(Thr239LeufsTer15)	NC_000001.10:g.120438246_120438247del	VUS	1 lab	95e95da4f2
1:152278245 FLG G>T	1	152278245	152278245	G	T	FLG	c.9117C>A	NM_002016.1	NP_002007.1:p.(Ser3039=)	NC_000001.10:g.152278245G>T	(Likely) benign	1 lab	95e9d8af5f
17:39927948 JUP G>A	17	39927948	39927948	G	A	JUP	c.159C>T	NM_002230.2	NP_002221.1:p.(Tyr53=)	NC_000017.10:g.39927948G>A	(Likely) benign	1 lab	95eaf1a179
3:196199131 RNF168 A>C	3	196199131	196199131	A	C	RNF168	c.1275T>G	NM_152617.3	NP_689830.2:p.(Phe425Leu)	NC_000003.11:g.196199131A>C	(Likely) benign	1 lab	95ec3fbf35
1:197091739 ASPM C>A	1	197091739	197091739	C	A	ASPM	c.3391-14G>T	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197091739C>A	(Likely) benign	1 lab	95ed57b9c8
X:53226065 KDM5C C>T	X	53226065	53226065	C	T	KDM5C	c.2784G>A	NM_004187.3	NP_004178.2:p.(Ala928=)	NC_000023.10:g.53226065C>T	(Likely) benign	1 lab	95ee31b113
22:42059753 XRCC6 C>T	22	42059753	42059753	C	T	XRCC6	c.1764C>T	NM_001469.4	NP_001460.1:p.(Tyr588=)	NC_000022.10:g.42059753C>T	(Likely) benign	1 lab	95ee5dbd7f
2:145157262 ZEB2 G>A	2	145157262	145157262	G	A	ZEB2	c.1492C>T	NM_014795.4	NP_055610.1:p.(Pro498Ser)	NC_000002.11:g.145157262G>A	VUS	1 lab	feb0b3c97d
X:152960239 SLC6A8 G>A	X	152960239	152960239	G	A	SLC6A8	c.1662G>A	NM_005629.3	NP_005620.1:p.(Pro554=)	NC_000023.10:g.152960239G>A	(Likely) benign	1 lab	95f03d91ce
X:152808596 ATP2B3 G>A	X	152808596	152808596	G	A	ATP2B3	c.886G>A	NM_021949.3	NP_068768.2:p.(Gly296Arg)	NC_000023.10:g.152808596G>A	(Likely) benign	1 lab	95f0995cce
7:5372349 TNRC18 G>A	7	5372349	5372349	G	A	TNRC18	c.6051C>T	NM_001080495.2	NP_001073964.2:p.(Thr2017=)	NC_000007.13:g.5372349G>A	(Likely) benign	1 lab	95f109a990
12:112924289 PTPN11 A>G	12	112924289	112924289	A	G	PTPN11	c.1235A>G	NM_002834.5	NP_002825.3:p.(Glu412Gly)	NC_000012.11:g.112924289A>G	VUS	1 lab	feb0bfa478
16:23614903 PALB2 C>A	16	23614903	23614903	C	A	PALB2	c.3438G>T	NM_024675.3	NP_078951.2:p.(Gln1146His)	NC_000016.9:g.23614903C>A	(Likely) benign	1 lab	95f466669f
X:32827653 DMD G>A	X	32827653	32827653	G	A	DMD	c.237C>T	NM_004010.3	NP_004001.1:p.(Ile79=)	NC_000023.10:g.32827653G>A	(Likely) benign	1 lab	95f485b26f
4:183651357 TENM3 G>T	4	183651357	183651357	G	T	TENM3	c.2590G>T	NM_001080477.3	NP_001073946.1:p.(Ala864Ser)	NC_000004.11:g.183651357G>T	VUS	1 lab	95f75332a7
2:149866880 KIF5C A>C	2	149866880	149866880	A	C	KIF5C	c.2767+15A>C	NM_004522.3	NP_004513.1:p.?	NC_000002.11:g.149866880A>C	(Likely) benign	1 lab	95f79ac099
10:100190401 HPS1 G>A	10	100190401	100190401	G	A	HPS1	c.695C>T	NM_001322477.1	NP_001309406.1:p.(Ala232Val)	NC_000010.10:g.100190401G>A	VUS	1 lab	95f8f27fae
11:17527386 USH1C A>G	11	17527386	17527386	A	G	USH1C	c.2124T>C	NM_153676.3	NP_710142.1:p.(Ser708=)	NC_000011.9:g.17527386A>G	(Likely) benign	1 lab	95f96ea292
9:117188608 WHRN C>T	9	117188608	117188608	C	T	WHRN	c.1049G>A	NM_015404.3	NP_056219.3:p.(Arg350Gln)	NC_000009.11:g.117188608C>T	VUS	1 lab	95f9e46cfa
3:9974652 IL17RC G>T	3	9974652	9974652	G	T	IL17RC	c.1751G>T	NM_153461.3	NP_703191.1:p.(Arg584Leu)	NC_000003.11:g.9974652G>T	VUS	1 lab	95fabab153
5:40955531 C7 G>C	5	40955531	40955531	G	C	C7	c.1136G>C	NM_000587.2	NP_000578.2:p.(Gly379Ala)	NC_000005.9:g.40955531G>C	VUS	1 lab	95fb15d76e
2:219204571 PNKD G>C	2	219204571	219204571	G	C	PNKD	c.302G>C	NM_015488.4	NP_056303.3:p.(Arg101Pro)	NC_000002.11:g.219204571G>C	VUS	1 lab	95fba5ea2c
16:79633085 MAF C>T	16	79633085	79633085	C	T	MAF	c.715G>A	NM_001031804.2	NP_001026974.1:p.(Ala239Thr)	NC_000016.9:g.79633085C>T	(Likely) benign	1 lab	95fbd3b4de
7:141255283 AGK A>G	7	141255283	141255283	A	G	AGK	c.17A>G	NM_018238.4	NP_060708.1:p.(Lys6Arg)	NC_000007.13:g.141255283A>G	(Likely) benign	1 lab	95fc62653e
19:50412484 NUP62 G>A	19	50412484	50412484	G	A	NUP62	c.581C>T	NM_016553.4	NP_057637.2:p.(Thr194Met)	NC_000019.9:g.50412484G>A	(Likely) benign	1 lab	95fe2e7801
15:93563255 CHD2 GCAGAGGGAAAGAAAGTT>G	15	93563255	93563274	GCAGAGGGAAAGAAAGTT	G	CHD2	c.4923_4939del	NM_001271.4	NP_001262.3:p.(Arg1642LeufsTer19)	NC_000015.9:g.93563258_93563274del	(Likely) pathogenic	1 lab	95ffdbb890
6:7562897 DSP A>G	6	7562897	7562897	A	G	DSP	c.610A>G	NM_004415.4	NP_004406.2:p.(Met204Val)	NC_000006.11:g.7562897A>G	VUS	1 lab	feb4a7ea39
11:34482910 CAT G>A	11	34482910	34482910	G	A	CAT	c.1169G>A	NM_001752.3	NP_001743.1:p.(Gly390Asp)	NC_000011.9:g.34482910G>A	VUS	1 lab	960168c1c4
19:53740406 ZNF677 G>GT	19	53740406	53740407	G	GT	ZNF677	c.1573dup	NM_182609.3	NP_872415.1:p.(Thr525AsnfsTer8)	NC_000019.9:g.53740407dup	VUS	1 lab	9602d76087
3:69038112 EOGT A>G	3	69038112	69038112	A	G	EOGT	c.888T>C	NM_001278689.1	NP_001265618.1:p.(Tyr296=)	NC_000003.11:g.69038112A>G	(Likely) benign	1 lab	9604c1e7e8
16:30020331 DOC2A C>T	16	30020331	30020331	C	T	DOC2A	c.513G>A	NM_001282062.1	NP_001268991.1:p.(Thr171=)	NC_000016.9:g.30020331C>T	(Likely) benign	1 lab	960611e448
2:27464966 CAD G>A	2	27464966	27464966	G	A	CAD	c.6071G>A	NM_004341.4	NP_004332.2:p.(Arg2024Gln)	NC_000002.11:g.27464966G>A	VUS	1 lab	96077aed6c
1:228505413 OBSCN G>A	1	228505413	228505413	G	A	OBSCN	c.16681G>A	NM_001271223.2	NP_001258152.2:p.(Ala5561Thr)	NC_000001.10:g.228505413G>A	(Likely) benign	1 lab	9608641553
17:29559113 NF1 G>T	17	29559113	29559113	G	T	NF1	c.3220G>T	NM_000267.3	NP_000258.1:p.(Glu1074Ter)	NC_000017.10:g.29559113G>T	(Likely) pathogenic	1 lab	9609803f02
12:72091301 TMEM19 G>C	12	72091301	72091301	G	C	TMEM19	c.624G>C	NM_018279.3	NP_060749.2:p.(Glu208Asp)	NC_000012.11:g.72091301G>C	(Likely) benign	1 lab	9609feaf6f
13:25264471 ATP12A T>C	13	25264471	25264471	T	C	ATP12A	c.547-5T>C	NM_001185085.1	NP_001172014.1:p.?	NC_000013.10:g.25264471T>C	(Likely) benign	1 lab	960a40628d
16:2134574 TSC2 C>CG	16	2134574	2134575	C	CG	TSC2	c.4352dup	NM_000548.3	NP_000539.2:p.(Ser1452LeufsTer72)	NC_000016.9:g.2134575dup	(Likely) pathogenic	1 lab	960bf8cf51
18:43447598 EPG5 C>T	18	43447598	43447598	C	T	EPG5	c.6341G>A	NM_020964.3	NP_066015.2:p.(Arg2114His)	NC_000018.9:g.43447598C>T	(Likely) benign	1 lab	960c7c5b7a
16:51176024 SALL1 T>A	16	51176024	51176024	T	A	SALL1	c.109A>T	NM_002968.2	NP_002959.2:p.(Thr37Ser)	NC_000016.9:g.51176024T>A	(Likely) benign	1 lab	960d466a21
21:46897751 COL18A1 C>T	21	46897751	46897751	C	T	COL18A1	c.1093C>T	NM_130445.2	NP_569712.2:p.(Pro365Ser)	NC_000021.8:g.46897751C>T	VUS	1 lab	960daae457
19:50098815 PRR12 C>G	19	50098815	50098815	C	G	PRR12	c.1223C>G	NM_020719.2	NP_065770.1:p.(Pro408Arg)	NC_000019.9:g.50098815C>G	VUS	1 lab	9610bbbe3b
17:18226070 SMCR8 C>T	17	18226070	18226070	C	T	SMCR8	c.2500C>T	NM_144775.3	NP_658988.2:p.(Arg834Cys)	NC_000017.10:g.18226070C>T	VUS	1 lab	9613a33a1a
20:47989774 KCNB1 G>A	20	47989774	47989774	G	A	KCNB1	c.2323C>T	NM_004975.4	NP_004966.1:p.(Pro775Ser)	NC_000020.10:g.47989774G>A	VUS	1 lab	feb7edb90b
19:48647224 LIG1 C>T	19	48647224	48647224	C	T	LIG1	c.774-4G>A	NM_001320970.1	NP_001307899.1:p.?	NC_000019.9:g.48647224C>T	(Likely) benign	1 lab	9616c410c2
6:15523287 DTNBP1 TTCC>T	6	15523287	15523295	TTCC	T	DTNBP1	c.972_974del	NM_032122.5	NP_115498.2:p.(Glu325del)	NC_000006.11:g.15523293_15523295del	VUS	1 lab	9616e67fa9
15:90188679 KIF7 A>G	15	90188679	90188679	A	G	KIF7	c.1926T>C	NM_198525.2	NP_940927.2:p.(Asn642=)	NC_000015.9:g.90188679A>G	(Likely) benign	1 lab	96171d5db7
4:3174115 HTT T>C	4	3174115	3174115	T	C	HTT	c.3939T>C	NM_002111.8	NP_002102.4:p.(Cys1313=)	NC_000004.11:g.3174115T>C	(Likely) benign	1 lab	9619e6fce3
2:170062573 LRP2 C>T	2	170062573	170062573	C	T	LRP2	c.7516G>A	NM_004525.3	NP_004516.2:p.(Val2506Ile)	NC_000002.11:g.170062573C>T	(Likely) benign	1 lab	961a55a618
17:29685637 NF1 CA>C	17	29685637	29685640	CA	C	NF1	c.8113del	NM_001042492.3	NP_001035957.1:p.(Ser2705ValfsTer34)	NC_000017.10:g.29685640del	(Likely) pathogenic	1 lab	961a60b71a
18:49867199 DCC T>A	18	49867199	49867199	T	A	DCC	c.42T>A	NM_005215.3	NP_005206.2:p.(Ala14=)	NC_000018.9:g.49867199T>A	(Likely) benign	1 lab	961bb1056e
17:78091513 GAA G>A	17	78091513	78091513	G	A	GAA	c.2446G>A	NM_000152.3	NP_000143.2:p.(Val816Ile)	NC_000017.10:g.78091513G>A	(Likely) benign	1 lab	961d8324fa
5:158747334 IL12B C>T	5	158747334	158747334	C	T	IL12B	c.677G>A	NM_002187.2	NP_002178.2:p.(Ser226Asn)	NC_000005.9:g.158747334C>T	(Likely) benign	1 lab	961ef86fb0
6:24505196 ALDH5A1 G>A	6	24505196	24505196	G	A	ALDH5A1	c.709G>A	NM_170740.1	NP_733936.1:p.(Ala237Thr)	NC_000006.11:g.24505196G>A	VUS	1 lab	961f6c009d
8:126049515 WASHC5 C>T	8	126049515	126049515	C	T	WASHC5	c.3145G>A	NM_014846.3	NP_055661.3:p.(Ala1049Thr)	NC_000008.10:g.126049515C>T	(Likely) benign	1 lab	961f868e15
X:118694224 STEEP1 C>T	X	118694224	118694224	C	T	STEEP1	c.242+7G>A	NM_022101.3	NP_071384.1:p.?	NC_000023.10:g.118694224C>T	(Likely) benign	1 lab	96209f222d
17:26851875 FOXN1 G>A	17	26851875	26851875	G	A	FOXN1	c.478G>A	NM_003593.2	NP_003584.2:p.(Glu160Lys)	NC_000017.10:g.26851875G>A	VUS	1 lab	9620b96682
17:18226225 SMCR8 G>A	17	18226225	18226225	G	A	SMCR8	c.2655G>A	NM_144775.3	NP_658988.2:p.(Met885Ile)	NC_000017.10:g.18226225G>A	(Likely) benign	1 lab	9622fa7fde
17:29670041 NF1 AT>A	17	29670041	29670044	AT	A	NF1	c.7080del	NM_001042492.3	NP_001035957.1:p.(Phe2360LeufsTer36)	NC_000017.10:g.29670044del	(Likely) pathogenic	1 lab	962404bf43
X:70602447 TAF1 A>G	X	70602447	70602447	A	G	TAF1	c.1659A>G	NM_001286074.1	NP_001273003.1:p.(Glu553=)	NC_000023.10:g.70602447A>G	(Likely) benign	1 lab	96246d483b
7:30084755 PLEKHA8 C>A	7	30084755	30084755	C	A	PLEKHA8	c.95C>A	NM_001197026.2	NP_001183955.1:p.(Ser32Tyr)	NC_000007.13:g.30084755C>A	VUS	1 lab	962a0d609f
16:2124199 TSC2 A>C	16	2124199	2124199	A	C	TSC2	c.2356-2A>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2124199A>C	(Likely) pathogenic	1 lab	962b6a2612
15:59523988 MYO1E G>A	15	59523988	59523988	G	A	MYO1E	c.423C>T	NM_004998.3	NP_004989.2:p.(His141=)	NC_000015.9:g.59523988G>A	(Likely) benign	1 lab	962e649e46
22:32234820 DEPDC5 T>C	22	32234820	32234820	T	C	DEPDC5	c.2504T>C	NM_001242896.2	NP_001229825.1:p.(Leu835Pro)	NC_000022.10:g.32234820T>C	VUS	1 lab	962f6821a6
X:140785772 SPANXD C>T	X	140785772	140785772	C	T	SPANXD	c.144G>A	NM_032417.3	NP_115793.1:p.(Ser48=)	NC_000023.10:g.140785772C>T	(Likely) benign	1 lab	962f8598b3
18:43534744 EPG5 C>T	18	43534744	43534744	C	T	EPG5	c.624G>A	NM_020964.3	NP_066015.2:p.(Gln208=)	NC_000018.9:g.43534744C>T	(Likely) benign	1 lab	962fea0c12
21:44282495 WDR4 G>C	21	44282495	44282495	G	C	WDR4	c.463C>G	NM_033661.4	NP_387510.1:p.(Pro155Ala)	NC_000021.8:g.44282495G>C	VUS	1 lab	9630026767
11:17801046 KCNC1 C>T	11	17801046	17801046	C	T	KCNC1	c.1548C>T	NM_001112741.1	NP_001106212.1:p.(Asn516=)	NC_000011.9:g.17801046C>T	(Likely) benign	1 lab	96303675a7
X:135741389 CD40LG T>C	X	135741389	135741389	T	C	CD40LG	c.601T>C	NM_000074.2	NP_000065.1:p.(Phe201Leu)	NC_000023.10:g.135741389T>C	(Likely) benign	1 lab	96319b4417
X:69282809 OTUD6A G>A	X	69282809	69282809	G	A	OTUD6A	c.435G>A	NM_207320.2	NP_997203.1:p.(Ala145=)	NC_000023.10:g.69282809G>A	(Likely) benign	1 lab	96325fe3ef
10:27826809 RAB18 A>G	10	27826809	27826809	A	G	RAB18	c.383A>G	NM_001256411.1	NP_001243340.1:p.(Gln128Arg)	NC_000010.10:g.27826809A>G	VUS	1 lab	963276c85b
X:70817879 GCNA A>G	X	70817879	70817879	A	G	GCNA	c.301A>G	NM_052957.4	NP_443189.1:p.(Asn101Asp)	NC_000023.10:g.70817879A>G	(Likely) benign	1 lab	963420e03f
6:7584509 DSP G>A	6	7584509	7584509	G	A	DSP	c.7014G>A	NM_004415.2	NP_004406.2:p.(Gly2338=)	NC_000006.11:g.7584509G>A	(Likely) benign	1 lab	96344a2df0
11:73801897 C2CD3 A>G	11	73801897	73801897	A	G	C2CD3	c.3602T>C	NM_001286577.1	NP_001273506.1:p.(Val1201Ala)	NC_000011.9:g.73801897A>G	VUS	1 lab	96352aefb8
8:145542210 DGAT1 G>A	8	145542210	145542210	G	A	DGAT1	c.488C>T	NM_012079.5	NP_036211.2:p.(Ala163Val)	NC_000008.10:g.145542210G>A	VUS	1 lab	9635791a41
19:13084425 DAND5 T>C	19	13084425	13084425	T	C	DAND5	c.547T>C	NM_152654.2	NP_689867.1:p.(Cys183Arg)	NC_000019.9:g.13084425T>C	VUS	1 lab	963580834b
3:132211341 DNAJC13 A>G	3	132211341	132211341	A	G	DNAJC13	c.3707A>G	NM_015268.4	NP_056083.3:p.(Tyr1236Cys)	NC_000003.11:g.132211341A>G	VUS	1 lab	9635968a33
2:191898261 STAT4 G>A	2	191898261	191898261	G	A	STAT4	c.1807C>T	NM_003151.3	NP_003142.1:p.(His603Tyr)	NC_000002.11:g.191898261G>A	VUS	1 lab	9636e4616b
16:88791897 PIEZO1 C>T	16	88791897	88791897	C	T	PIEZO1	c.4089G>A	NM_001142864.4	NP_001136336.2:p.(Lys1363=)	NC_000016.9:g.88791897C>T	(Likely) benign	1 lab	96381daf48
21:46895431 COL18A1 G>C	21	46895431	46895431	G	C	COL18A1	c.2025G>C	NM_130444.3	NP_569711.2:p.(Glu675Asp)	NC_000021.8:g.46895431G>C	(Likely) benign	1 lab	9638be2fbf
5:176638007 NSD1 C>G	5	176638007	176638007	C	G	NSD1	c.2607C>G	NM_022455.4	NP_071900.2:p.(Tyr869Ter)	NC_000005.9:g.176638007C>G	(Likely) pathogenic	1 lab	963a221f3f
14:74960844 ISCA2 A>C	14	74960844	74960844	A	C	ISCA2	c.163A>C	NM_194279.3	NP_919255.2:p.(Ser55Arg)	NC_000014.8:g.74960844A>C	(Likely) benign	1 lab	963b51133f
9:134381543 POMT1 G>C	9	134381543	134381543	G	C	POMT1	c.3G>C	NM_001353198.1	NP_001340127.1:p.(Met1?)	NC_000009.11:g.134381543G>C	VUS	1 lab	963be28348
17:29679283 NF1 AG>A	17	29679283	29679285	AG	A	NF1	c.7468del	NM_001042492.3	NP_001035957.1:p.(Glu2490ArgfsTer33)	NC_000017.10:g.29679285del	(Likely) pathogenic	1 lab	963c089494
17:26851101 FOXN1 C>T	17	26851101	26851101	C	T	FOXN1	c.114C>T	NM_003593.2	NP_003584.2:p.(Ala38=)	NC_000017.10:g.26851101C>T	(Likely) benign	1 lab	963cc714d8
5:98115695 RGMB T>C	5	98115695	98115695	T	C	RGMB	c.671T>C	NM_001012761.2	NP_001012779.2:p.(Val224Ala)	NC_000005.9:g.98115695T>C	VUS	1 lab	963ee173e7
18:72346650 ZNF407 G>A	18	72346650	72346650	G	A	ZNF407	c.3675G>A	NM_017757.2	NP_060227.2:p.(Glu1225=)	NC_000018.9:g.72346650G>A	(Likely) benign	1 lab	963f18e763
11:128781340 KCNJ5 G>A	11	128781340	128781340	G	A	KCNJ5	c.172G>A	NM_000890.5	NP_000881.3:p.(Gly58Ser)	NC_000011.9:g.128781340G>A	(Likely) benign	1 lab	feb8d2336f
6:76717201 IMPG1 C>T	6	76717201	76717201	C	T	IMPG1	c.883G>A	NM_001563.3	NP_001554.2:p.(Asp295Asn)	NC_000006.11:g.76717201C>T	(Likely) benign	1 lab	96410ca270
15:85401144 ALPK3 C>G	15	85401144	85401144	C	G	ALPK3	c.3781C>G	NM_020778.4	NP_065829.3:p.(Arg1261Gly)	NC_000015.9:g.85401144C>G	(Likely) benign	1 lab	96420c3af0
3:132441118 NPHP3 A>G	3	132441118	132441118	A	G	NPHP3	c.82T>C	NM_153240.4	NP_694972.3:p.(Cys28Arg)	NC_000003.11:g.132441118A>G	VUS	1 lab	964229c532
7:19156529 TWIST1 G>GGCAGCGTGGGGATGATCTTCC	7	19156529	19156556	G	GGCAGCGTGGGGATGATCTTCC	TWIST1	c.395_415dup	NM_000474.3	NP_000465.1:p.(Arg132_Leu138dup)	NC_000007.13:g.19156536_19156556dup	(Likely) pathogenic	1 lab	96438be27e
12:133196619 P2RX2 A>G	12	133196619	133196619	A	G	P2RX2	c.491A>G	NM_001282165.1	NP_001269094.1:p.(Gln164Arg)	NC_000012.11:g.133196619A>G	(Likely) benign	1 lab	9647c4f3ea
10:102748667 TWNK G>A	10	102748667	102748667	G	A	TWNK	c.700G>A	NM_001163812.1	NP_001157284.1:p.(Glu234Lys)	NC_000010.10:g.102748667G>A	(Likely) benign	1 lab	9647c731d8
1:91406374 ZNF644 T>C	1	91406374	91406374	T	C	ZNF644	c.537A>G	NM_201269.2	NP_958357.1:p.(Ser179=)	NC_000001.10:g.91406374T>C	(Likely) benign	1 lab	9647d3d72b
8:30694497 TEX15 C>G	8	30694497	30694497	C	G	TEX15	c.9303G>C	NM_001350162.2	NP_001337091.1:p.(Ala3101=)	NC_000008.10:g.30694497C>G	VUS	1 lab	febcf940fc
17:73236133 GGA3 G>A	17	73236133	73236133	G	A	GGA3	c.1104C>T	NM_001291641.1	NP_001278570.1:p.(Gly368=)	NC_000017.10:g.73236133G>A	(Likely) benign	1 lab	9648ab100c
2:239257480 TRAF3IP1 C>G	2	239257480	239257480	C	G	TRAF3IP1	c.1358C>G	NM_015650.3	NP_056465.2:p.(Ser453Cys)	NC_000002.11:g.239257480C>G	VUS	1 lab	964938e65d
2:190541665 ANKAR T>C	2	190541665	190541665	T	C	ANKAR	c.449T>C	NM_144708.3	NP_653309.3:p.(Ile150Thr)	NC_000002.11:g.190541665T>C	(Likely) benign	1 lab	9649f474f4
2:27276775 AGBL5 G>A	2	27276775	27276775	G	A	AGBL5	c.399G>A	NM_021831.5	NP_068603.4:p.(Thr133=)	NC_000002.11:g.27276775G>A	(Likely) benign	1 lab	964a6763a0
X:153609136 EMD T>G	X	153609136	153609136	T	G	EMD	c.423T>G	NM_000117.2	NP_000108.1:p.(Ser141=)	NC_000023.10:g.153609136T>G	(Likely) benign	1 lab	964a6ab73b
17:76420030 DNAH17 G>A	17	76420030	76420030	G	A	DNAH17	c.13346C>T	NM_173628.3	NP_775899.3:p.(Ala4449Val)	NC_000017.10:g.76420030G>A	VUS	1 lab	964acd7d59
1:207513861 CD55 C>T	1	207513861	207513861	C	T	CD55	c.1207C>T	NM_001300902.1	NP_001287831.1:p.(Pro403Ser)	NC_000001.10:g.207513861C>T	(Likely) benign	1 lab	964b9837c8
5:56155665 MAP3K1 C>T	5	56155665	56155665	C	T	MAP3K1	c.757C>T	NM_005921.1	NP_005912.1:p.(Pro253Ser)	NC_000005.9:g.56155665C>T	VUS	1 lab	964d92838b
9:134010329 NUP214 G>A	9	134010329	134010329	G	A	NUP214	c.876G>A	NM_005085.4	NP_005076.3:p.(Glu292=)	NC_000009.11:g.134010329G>A	(Likely) benign	1 lab	febd13a31c
21:15538754 LIPI G>A	21	15538754	15538754	G	A	LIPI	c.725C>T	NM_198996.3	NP_945347.2:p.(Pro242Leu)	NC_000021.8:g.15538754G>A	VUS	1 lab	964dc058f1
X:70443948 GJB1 C>T	X	70443948	70443948	C	T	GJB1	c.391C>T	NM_000166.5	NP_000157.1:p.(Leu131=)	NC_000023.10:g.70443948C>T	(Likely) benign	1 lab	965079ce77
1:216497017 USH2A C>T	1	216497017	216497017	C	T	USH2A	c.1349G>A	NM_206933.2	NP_996816.2:p.(Gly450Asp)	NC_000001.10:g.216497017C>T	VUS	1 lab	96533b4b5b
3:170846676 TNIK CA>C	3	170846676	170846696	CA	C	TNIK	c.1609-10del	NM_015028.4	NP_055843.1:p.?	NC_000003.11:g.170846696del	(Likely) benign	1 lab	96541a5f59
X:38128979 RPGR C>T	X	38128979	38128979	C	T	RPGR	c.2348G>A	NM_000328.2	NP_000319.1:p.(Ser783Asn)	NC_000023.10:g.38128979C>T	(Likely) benign	1 lab	9655464b0c
X:140993856 MAGEC1 G>A	X	140993856	140993856	G	A	MAGEC1	c.666G>A	NM_005462.4	NP_005453.2:p.(Gln222=)	NC_000023.10:g.140993856G>A	(Likely) benign	1 lab	9656dab2ab
5:142254679 ARHGAP26 A>G	5	142254679	142254679	A	G	ARHGAP26	c.255A>G	NM_015071.6	NP_055886.1:p.(Arg85=)	NC_000005.9:g.142254679A>G	(Likely) benign	1 lab	febdaa694b
8:17928842 ASAH1 T>C	8	17928842	17928842	T	C	ASAH1	c.183A>G	NM_177924.5	NP_808592.2:p.(Arg61=)	NC_000008.10:g.17928842T>C	(Likely) benign	1 lab	96585e701b
19:42752871 ERF T>TA	19	42752871	42752872	T	TA	ERF	c.1392dup	NM_006494.3	NP_006485.2:p.(Lys465Ter)	NC_000019.9:g.42752872dup	(Likely) pathogenic	1 lab	965943ca3a
4:126371763 FAT4 G>T	4	126371763	126371763	G	T	FAT4	c.9598G>T	NM_001291303.1	NP_001278232.1:p.(Asp3200Tyr)	NC_000004.11:g.126371763G>T	VUS	1 lab	965b5c88aa
10:17061908 CUBN G>C	10	17061908	17061908	G	C	CUBN	c.4092C>G	NM_001081.3	NP_001072.2:p.(Ser1364=)	NC_000010.10:g.17061908G>C	(Likely) benign	1 lab	965e3b48a8
2:152717248 CACNB4 C>T	2	152717248	152717248	C	T	CACNB4	c.287G>A	NM_001330117.1	NP_001317046.1:p.(Arg96His)	NC_000002.11:g.152717248C>T	VUS	1 lab	965e97ff97
6:129618973 LAMA2 C>G	6	129618973	129618973	C	G	LAMA2	c.3000C>G	NM_000426.3	NP_000417.2:p.(Ala1000=)	NC_000006.11:g.129618973C>G	(Likely) benign	1 lab	965eea9927
6:146007411 EPM2A C>T	6	146007411	146007411	C	T	EPM2A	c.323G>A	NM_005670.3	NP_005661.1:p.(Arg108His)	NC_000006.11:g.146007411C>T	VUS	1 lab	965f77a9e1
22:36678809 MYH9 C>A	22	36678809	36678809	C	A	MYH9	c.5788G>T	NM_002473.5	NP_002464.1:p.(Val1930Leu)	NC_000022.10:g.36678809C>A	(Likely) benign	1 lab	9662bde787
3:121415642 GOLGB1 A>G	3	121415642	121415642	A	G	GOLGB1	c.3611T>C	NM_001256487.1	NP_001243416.1:p.(Ile1204Thr)	NC_000003.11:g.121415642A>G	VUS	1 lab	96637179d4
1:169555489 F5 G>C	1	169555489	169555489	G	C	F5	c.136C>G	NM_000130.4	NP_000121.2:p.(Arg46Gly)	NC_000001.10:g.169555489G>C	(Likely) benign	1 lab	966529e7e1
10:73326594 CDH23 C>T	10	73326594	73326594	C	T	CDH23	c.525C>T	NM_022124.5	NP_071407.4:p.(Ser175=)	NC_000010.10:g.73326594C>T	(Likely) benign	1 lab	9666773808
4:123184119 BLTP1 T>C	4	123184119	123184119	T	C	BLTP1	c.6963T>C	NM_015312.3	NP_056127.2:p.(Ser2321=)	NC_000004.11:g.123184119T>C	(Likely) benign	1 lab	9667daa540
3:132211458 DNAJC13 C>T	3	132211458	132211458	C	T	DNAJC13	c.3824C>T	NM_015268.4	NP_056083.3:p.(Pro1275Leu)	NC_000003.11:g.132211458C>T	VUS	1 lab	9668d311de
11:5809248 OR52N1 C>A	11	5809248	5809248	C	A	OR52N1	c.799G>T	NM_001001913.1	NP_001001913.1:p.(Gly267Trp)	NC_000011.9:g.5809248C>A	VUS	1 lab	9668dbe6fe
6:39893441 MOCS1 C>T	6	39893441	39893441	C	T	MOCS1	c.399G>A	NM_005943.5	NP_005934.2:p.(Pro133=)	NC_000006.11:g.39893441C>T	(Likely) benign	1 lab	966909fa2a
1:152285648 FLG G>C	1	152285648	152285648	G	C	FLG	c.1714C>G	NM_002016.1	NP_002007.1:p.(Arg572Gly)	NC_000001.10:g.152285648G>C	VUS	1 lab	966b1dcbb3
X:147582638 AFF2 C>T	X	147582638	147582638	C	T	AFF2	c.21C>T	NM_002025.3	NP_002016.2:p.(Phe7=)	NC_000023.10:g.147582638C>T	(Likely) benign	1 lab	966b993157
10:127462797 MMP21 G>A	10	127462797	127462797	G	A	MMP21	c.300C>T	NM_147191.1	NP_671724.1:p.(Ala100=)	NC_000010.10:g.127462797G>A	(Likely) benign	1 lab	966bd4c5ad
10:88476448 LDB3 CA>C	10	88476448	88476449	CA	C	LDB3	c.1597del	NM_007078.3	NP_009009.1:p.(Arg533GlyfsTer32)	NC_000010.10:g.88476449del	VUS	1 lab	966cb45a45
X:2827947 ARSD C>T	X	2827947	2827947	C	T	ARSD	c.1209G>A	NM_001669.3	NP_001660.2:p.(Pro403=)	NC_000023.10:g.2827947C>T	(Likely) benign	1 lab	9698cf09bc
9:135781197 TSC1 GTGGAATTTTAC>TG	9	135781197	135781208	GTGGAATTTTAC	TG	TSC1	c.1757_1768delinsCA	NM_000368.4	NP_000359.1:p.(Cys586SerfsTer40)	NC_000009.11:g.135781197_135781208delinsTG	(Likely) pathogenic	1 lab	966edb379f
9:399204 DOCK8 T>C	9	399204	399204	T	C	DOCK8	c.3179T>C	NM_203447.3	NP_982272.2:p.(Leu1060Pro)	NC_000009.11:g.399204T>C	VUS	1 lab	967423268a
5:149206367 PPARGC1B G>A	5	149206367	149206367	G	A	PPARGC1B	c.384G>A	NM_133263.3	NP_573570.3:p.(Ser128=)	NC_000005.9:g.149206367G>A	(Likely) benign	1 lab	96774919b6
17:48736727 ABCC3 A>T	17	48736727	48736727	A	T	ABCC3	c.804A>T	NM_003786.4	NP_003777.2:p.(Ala268=)	NC_000017.10:g.48736727A>T	(Likely) benign	1 lab	967970fa8d
11:71724102 NUMA1 C>T	11	71724102	71724102	C	T	NUMA1	c.4447G>A	NM_001286561.1	NP_001273490.1:p.(Val1483Ile)	NC_000011.9:g.71724102C>T	VUS	1 lab	96798b1e03
1:197102632 ASPM T>C	1	197102632	197102632	T	C	ASPM	c.2267A>G	NM_018136.4	NP_060606.3:p.(Tyr756Cys)	NC_000001.10:g.197102632T>C	(Likely) benign	1 lab	967bc17e21
6:31829178 NEU1 G>A	6	31829178	31829178	G	A	NEU1	c.402C>T	NM_000434.3	NP_000425.1:p.(Pro134=)	NC_000006.11:g.31829178G>A	(Likely) benign	1 lab	967c1379f5
5:129072901 ADAMTS19 A>G	5	129072901	129072901	A	G	ADAMTS19	c.3632A>G	NM_133638.4	NP_598377.4:p.(Gln1211Arg)	NC_000005.9:g.129072901A>G	VUS	1 lab	967dd0e38f
1:100964667 CDC14A A>G	1	100964667	100964667	A	G	CDC14A	c.1604A>G	NM_001319210.1	NP_001306139.1:p.(Gln535Arg)	NC_000001.10:g.100964667A>G	(Likely) benign	1 lab	9683cca094
6:112462625 LAMA4 C>T	6	112462625	112462625	C	T	LAMA4	c.2748G>A	NM_001105206.2	NP_001098676.2:p.(Glu916=)	NC_000006.11:g.112462625C>T	(Likely) benign	1 lab	9684257577
19:50911967 POLD1 G>A	19	50911967	50911967	G	A	POLD1	c.1779G>A	NM_001308632.1	NP_001295561.1:p.(Val593=)	NC_000019.9:g.50911967G>A	(Likely) benign	1 lab	968874bf3f
X:79973116 BRWD3 C>T	X	79973116	79973116	C	T	BRWD3	c.2187G>A	NM_153252.5	NP_694984.5:p.(Trp729Ter)	NC_000023.10:g.79973116C>T	(Likely) pathogenic	1 lab	fec6786d78
9:135771515 TSC1 A>G	9	135771515	135771515	A	G	TSC1	c.*107T>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135771515A>G	(Likely) benign	1 lab	968b836dd5
21:47704953 MCM3AP G>T	21	47704953	47704953	G	T	MCM3AP	c.248C>A	NM_003906.4	NP_003897.2:p.(Pro83His)	NC_000021.8:g.47704953G>T	(Likely) benign	1 lab	968bf24a4b
21:37620694 DOP1B A>G	21	37620694	37620694	A	G	DOP1B	c.4826A>G	NM_001320714.1	NP_001307643.1:p.(Asp1609Gly)	NC_000021.8:g.37620694A>G	VUS	1 lab	968de75fb9
19:40364229 FCGBP C>T	19	40364229	40364229	C	T	FCGBP	c.14413G>A	NM_003890.2	NP_003881.2:p.(Glu4805Lys)	NC_000019.9:g.40364229C>T	VUS	1 lab	96916f39ef
X:77913863 RTL3 G>T	X	77913863	77913863	G	T	RTL3	c.55C>A	NM_152694.2	NP_689907.1:p.(Arg19=)	NC_000023.10:g.77913863G>T	(Likely) benign	1 lab	9691b583ab
3:121508921 IQCB1 T>G	3	121508921	121508921	T	G	IQCB1	c.1128A>C	NM_001023570.3	NP_001018864.2:p.(Pro376=)	NC_000003.11:g.121508921T>G	(Likely) benign	1 lab	969284632b
X:54263978 WNK3 T>A	X	54263978	54263978	T	A	WNK3	c.4021A>T	NM_020922.4	NP_065973.2:p.(Thr1341Ser)	NC_000023.10:g.54263978T>A	(Likely) benign	1 lab	9694ae61fd
X:10166032 CLCN4 G>A	X	10166032	10166032	G	A	CLCN4	c.486G>A	NM_001830.3	NP_001821.2:p.(Leu162=)	NC_000023.10:g.10166032G>A	(Likely) benign	1 lab	9694c7247a
8:8747771 MFHAS1 C>A	8	8747771	8747771	C	A	MFHAS1	c.2798G>T	NM_004225.2	NP_004216.2:p.(Arg933Met)	NC_000008.10:g.8747771C>A	VUS	1 lab	9696e70dd9
13:25480634 CPAP G>A	13	25480634	25480634	G	A	CPAP	c.1542C>T	NM_018451.4	NP_060921.3:p.(Cys514=)	NC_000013.10:g.25480634G>A	(Likely) benign	1 lab	96977d54da
1:11855182 MTHFR C>T	1	11855182	11855182	C	T	MTHFR	c.1004G>A	NM_005957.4	NP_005948.3:p.(Arg335His)	NC_000001.10:g.11855182C>T	VUS	1 lab	9698bb27cd
11:134037921 NCAPD3 C>A	11	134037921	134037921	C	A	NCAPD3	c.3543G>T	NM_015261.2	NP_056076.1:p.(Met1181Ile)	NC_000011.9:g.134037921C>A	(Likely) benign	1 lab	9698c94791
X:32408209 DMD C>A	X	32408209	32408209	C	A	DMD	c.3954G>T	NM_004010.3	NP_004001.1:p.(Leu1318=)	NC_000023.10:g.32408209C>A	(Likely) benign	1 lab	969938d4d6
15:48428883 SLC24A5 T>C	15	48428883	48428883	T	C	SLC24A5	c.594T>C	NM_205850.2	NP_995322.1:p.(Tyr198=)	NC_000015.9:g.48428883T>C	(Likely) benign	1 lab	969afbed90
10:68139031 CTNNA3 C>T	10	68139031	68139031	C	T	CTNNA3	c.1611G>A	NM_013266.3	NP_037398.2:p.(Ala537=)	NC_000010.10:g.68139031C>T	VUS	1 lab	969ec63ee1
1:11317071 MTOR G>A	1	11317071	11317071	G	A	MTOR	c.423C>T	NM_004958.3	NP_004949.1:p.(Thr141=)	NC_000001.10:g.11317071G>A	(Likely) benign	1 lab	969f9de2fa
9:113530241 MUSK G>A	9	113530241	113530241	G	A	MUSK	c.1062G>A	NM_005592.3	NP_005583.1:p.(Thr354=)	NC_000009.11:g.113530241G>A	(Likely) benign	1 lab	96a5d5ffc2
X:153133467 L1CAM T>C	X	153133467	153133467	T	C	L1CAM	c.1814A>G	NM_001278116.1	NP_001265045.1:p.(Gln605Arg)	NC_000023.10:g.153133467T>C	(Likely) benign	1 lab	96a97418d1
13:95735408 ABCC4 C>A	13	95735408	95735408	C	A	ABCC4	c.2672G>T	NM_005845.4	NP_005836.2:p.(Arg891Leu)	NC_000013.10:g.95735408C>A	VUS	1 lab	96aa9f866f
17:48703557 CACNA1G G>A	17	48703557	48703557	G	A	CACNA1G	c.6579G>A	NM_018896.4	NP_061496.2:p.(Pro2193=)	NC_000017.10:g.48703557G>A	(Likely) benign	1 lab	96aadc30b7
X:5821420 NLGN4X C>T	X	5821420	5821420	C	T	NLGN4X	c.1299G>A	NM_001282145.1	NP_001269074.1:p.(Pro433=)	NC_000023.10:g.5821420C>T	(Likely) benign	1 lab	96ab7f4f56
11:2186478 TH C>A	11	2186478	2186478	C	A	TH	c.1411G>T	NM_199292.2	NP_954986.2:p.(Ala471Ser)	NC_000011.9:g.2186478C>A	VUS	1 lab	96abd2eb6b
1:240370914 FMN2 GCCCCCTCTA>G	1	240370914	240370926	GCCCCCTCTA	G	FMN2	c.2806_2814del	NM_020066.5	NP_064450.3:p.(Pro936_Pro938del)	NC_000001.10:g.240370918_240370926del	VUS	1 lab	96adc0aba1
13:103393580 LRTM3 T>C	13	103393580	103393580	T	C	LRTM3	c.9467A>G	NM_001146197.2	NP_001139669.1:p.(Gln3156Arg)	NC_000013.10:g.103393580T>C	VUS	1 lab	96ae3c3dda
3:77681786 ROBO2 G>A	3	77681786	77681786	G	A	ROBO2	c.3934G>A	NM_001290040.1	NP_001276969.1:p.(Gly1312Arg)	NC_000003.11:g.77681786G>A	VUS	1 lab	96aebe2a01
X:53581790 HUWE1 T>C	X	53581790	53581790	T	C	HUWE1	c.8298A>G	NM_031407.6	NP_113584.3:p.(Gln2766=)	NC_000023.10:g.53581790T>C	(Likely) benign	1 lab	96af02211d
9:7103702 KDM4C A>T	9	7103702	7103702	A	T	KDM4C	c.1131A>T	NM_001353999.1	NP_001340928.1:p.(Arg377Ser)	NC_000009.11:g.7103702A>T	VUS	1 lab	96afadba8e
19:50826443 KCNC3 G>A	19	50826443	50826443	G	A	KCNC3	c.1767C>T	NM_004977.2	NP_004968.2:p.(His589=)	NC_000019.9:g.50826443G>A	(Likely) benign	1 lab	96afe4ed52
14:68195950 RDH12 G>A	14	68195950	68195950	G	A	RDH12	c.701G>A	NM_152443.2	NP_689656.2:p.(Arg234His)	NC_000014.8:g.68195950G>A	(Likely) benign	1 lab	96b43bb947
20:2411103 TGM6 C>T	20	2411103	2411103	C	T	TGM6	c.1690C>T	NM_198994.2	NP_945345.2:p.(Pro564Ser)	NC_000020.10:g.2411103C>T	VUS	1 lab	96b69764cd
10:55582183 PCDH15 GGAGGAGCAA>G	10	55582183	55582200	GGAGGAGCAA	G	PCDH15	c.4368-2202_4368-2194del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55582192_55582200del	VUS	1 lab	96b84a2c95
2:74605334 DCTN1 G>A	2	74605334	74605334	G	A	DCTN1	c.72C>T	NM_004082.4	NP_004073.2:p.(Ala24=)	NC_000002.11:g.74605334G>A	(Likely) benign	1 lab	96b8f21193
6:15524688 DTNBP1 G>A	6	15524688	15524688	G	A	DTNBP1	c.880C>T	NM_183040.2	NP_898861.1:p.(Arg294Cys)	NC_000006.11:g.15524688G>A	VUS	1 lab	96bae8d081
10:103827010 HPS6 G>A	10	103827010	103827010	G	A	HPS6	c.1779G>A	NM_024747.5	NP_079023.2:p.(Pro593=)	NC_000010.10:g.103827010G>A	(Likely) benign	1 lab	96bb7d1c80
17:39925321 JUP G>A	17	39925321	39925321	G	A	JUP	c.607C>T	NM_021991.2	NP_068831.1:p.(Arg203Cys)	NC_000017.10:g.39925321G>A	VUS	1 lab	96bba96927
1:44395863 ST3GAL3 C>T	1	44395863	44395863	C	T	ST3GAL3	c.502C>T	NM_174965.3	NP_777625.1:p.(Arg168Cys)	NC_000001.10:g.44395863C>T	(Likely) benign	1 lab	96bc0100bf
11:6648586 DCHS1 C>G	11	6648586	6648586	C	G	DCHS1	c.5684G>C	NM_003737.4	NP_003728.1:p.(Gly1895Ala)	NC_000011.9:g.6648586C>G	VUS	1 lab	fec9fdbd51
1:173878862 SERPINC1 T>C	1	173878862	173878862	T	C	SERPINC1	c.981A>G	NM_000488.4	NP_000479.1:p.(Val327=)	NC_000001.10:g.173878862T>C	(Likely) benign	1 lab	fecd94981e
6:7570797 DSP G>A	6	7570797	7570797	G	A	DSP	c.1701+1G>A	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7570797G>A	(Likely) pathogenic	1 lab	96be78aa78
19:4714163 DPP9 C>T	19	4714163	4714163	C	T	DPP9	c.243G>A	NM_139159.4	NP_631898.3:p.(Ala81=)	NC_000019.9:g.4714163C>T	(Likely) benign	1 lab	96bec76a18
4:88986571 PKD2 G>T	4	88986571	88986571	G	T	PKD2	c.2164G>T	NM_000297.3	NP_000288.1:p.(Val722Leu)	NC_000004.11:g.88986571G>T	(Likely) benign	1 lab	96bf2d4169
10:79580870 DLG5 A>T	10	79580870	79580870	A	T	DLG5	c.3372T>A	NM_004747.3	NP_004738.3:p.(Ala1124=)	NC_000010.10:g.79580870A>T	(Likely) benign	1 lab	96bfda3344
2:163137864 IFIH1 C>T	2	163137864	163137864	C	T	IFIH1	c.1498G>A	NM_022168.4	NP_071451.2:p.(Ala500Thr)	NC_000002.11:g.163137864C>T	(Likely) benign	1 lab	96c05bbc7c
3:64527587 ADAMTS9 C>T	3	64527587	64527587	C	T	ADAMTS9	c.5124G>A	NM_182920.2	NP_891550.1:p.(Glu1708=)	NC_000003.11:g.64527587C>T	(Likely) benign	1 lab	96c0c81588
11:62287518 AHNAK G>T	11	62287518	62287518	G	T	AHNAK	c.14371C>A	NM_001620.2	NP_001611.1:p.(Pro4791Thr)	NC_000011.9:g.62287518G>T	(Likely) benign	1 lab	96c2b89e8e
X:6451989 VCX3A C>T	X	6451989	6451989	C	T	VCX3A	c.358G>A	NM_016379.3	NP_057463.2:p.(Val120Met)	NC_000023.10:g.6451989C>T	(Likely) benign	1 lab	96c3f98958
X:6451929 VCX3A C>T	X	6451929	6451929	C	T	VCX3A	c.418G>A	NM_016379.3	NP_057463.2:p.(Val140Met)	NC_000023.10:g.6451929C>T	(Likely) benign	1 lab	96c450d9b8
19:33902573 PEPD C>G	19	33902573	33902573	C	G	PEPD	c.818+5G>C	NM_000285.3	NP_000276.2:p.?	NC_000019.9:g.33902573C>G	VUS	1 lab	97fc838075
2:179425726 TTN T>C	2	179425726	179425726	T	C	TTN	c.85133A>G	NM_001267550.1	NP_001254479.1:p.(Asn28378Ser)	NC_000002.11:g.179425726T>C	VUS	1 lab	96c469423e
2:179517858 TTN A>C	2	179517858	179517858	A	C	TTN	c.38792-7T>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179517858A>C	(Likely) benign	1 lab	96c57e2068
X:77224682 PGAM4 A>T	X	77224682	77224682	A	T	PGAM4	c.454T>A	NM_001029891.2	NP_001025062.1:p.(Ser152Thr)	NC_000023.10:g.77224682A>T	(Likely) benign	1 lab	96c58febf0
16:72016001 PKD1L3 G>C	16	72016001	72016001	G	C	PKD1L3	c.1100C>G	NM_181536.1	NP_853514.1:p.(Ala367Gly)	NC_000016.9:g.72016001G>C	VUS	1 lab	96c5baa31b
1:220363463 RAB3GAP2 C>T	1	220363463	220363463	C	T	RAB3GAP2	c.1657G>A	NM_012414.3	NP_036546.2:p.(Asp553Asn)	NC_000001.10:g.220363463C>T	VUS	1 lab	96c654210a
11:47356670 MYBPC3 C>T	11	47356670	47356670	C	T	MYBPC3	c.2828G>A	NM_000256.3	NP_000247.2:p.(Arg943Gln)	NC_000011.9:g.47356670C>T	VUS	1 lab	fecf1bea2b
X:151998165 CETN2 A>G	X	151998165	151998165	A	G	CETN2	c.143T>C	NM_004344.1	NP_004335.1:p.(Ile48Thr)	NC_000023.10:g.151998165A>G	VUS	1 lab	96c889fb35
10:78084188 LRMDA G>A	10	78084188	78084188	G	A	LRMDA	c.462G>A	NM_032024.4	NP_114413.1:p.(Pro154=)	NC_000010.10:g.78084188G>A	(Likely) benign	1 lab	96c918cfe7
4:1087514 RNF212 T>C	4	1087514	1087514	T	C	RNF212	c.535A>G	NM_001193318.2	NP_001180247.1:p.(Ile179Val)	NC_000004.11:g.1087514T>C	(Likely) benign	1 lab	96cb0ea234
4:79345533 FRAS1 C>T	4	79345533	79345533	C	T	FRAS1	c.4679-9C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79345533C>T	(Likely) benign	1 lab	96cb3b7cf1
12:40912330 MUC19 A>C	12	40912330	40912330	A	C	MUC19	c.20842A>C	NM_173600.2	NP_775871.2:p.(Thr6948Pro)	NC_000012.11:g.40912330A>C	(Likely) benign	1 lab	96cb587728
15:91298125 BLM G>A	15	91298125	91298125	G	A	BLM	c.1044G>A	NM_001287246.1	NP_001274175.1:p.(Met348Ile)	NC_000015.9:g.91298125G>A	(Likely) benign	1 lab	96cd01c072
X:8766416 FAM9A T>C	X	8766416	8766416	T	C	FAM9A	c.325A>G	NM_001171186.1	NP_001164657.1:p.(Lys109Glu)	NC_000023.10:g.8766416T>C	(Likely) benign	1 lab	96cf9d941a
X:57936064 ZXDA A>T	X	57936064	57936064	A	T	ZXDA	c.791T>A	NM_007156.4	NP_009087.1:p.(Val264Glu)	NC_000023.10:g.57936064A>T	VUS	1 lab	96d04d337c
1:207241620 PFKFB2 A>G	1	207241620	207241620	A	G	PFKFB2	c.953A>G	NM_006212.2	NP_006203.2:p.(Tyr318Cys)	NC_000001.10:g.207241620A>G	VUS	1 lab	96d17a210d
2:172291661 DCAF17 AAT>A	2	172291661	172291667	AAT	A	DCAF17	c.200_201del	NM_025000.4	NP_079276.2:p.(Tyr67PhefsTer2)	NC_000002.11:g.172291666_172291667del	(Likely) pathogenic	1 lab	96d1b19929
6:51920425 PKHD1 G>A	6	51920425	51920425	G	A	PKHD1	c.1796C>T	NM_138694.3	NP_619639.3:p.(Pro599Leu)	NC_000006.11:g.51920425G>A	(Likely) benign	1 lab	96d60ab4db
X:6451886 VCX3A A>G	X	6451886	6451886	A	G	VCX3A	c.461T>C	NM_016379.3	NP_057463.2:p.(Leu154Pro)	NC_000023.10:g.6451886A>G	(Likely) benign	1 lab	96d939f5b1
15:28391460 HERC2 C>T	15	28391460	28391460	C	T	HERC2	c.10931G>A	NM_004667.6	NP_004658.3:p.(Arg3644Gln)	NC_000015.9:g.28391460C>T	VUS	1 lab	fed26e50fa
X:39922954 BCOR T>C	X	39922954	39922954	T	C	BCOR	c.3754A>G	NM_001123385.1	NP_001116857.1:p.(Ile1252Val)	NC_000023.10:g.39922954T>C	(Likely) benign	1 lab	96daa482aa
7:157162103 DNAJB6 A>G	7	157162103	157162103	A	G	DNAJB6	c.346+1926A>G	NM_058246.4	NP_490647.1:p.?	NC_000007.13:g.157162103A>G	(Likely) benign	1 lab	feda9d0385
3:64145745 PRICKLE2 A>G	3	64145745	64145745	A	G	PRICKLE2	c.267T>C	NM_198859.3	NP_942559.1:p.(Tyr89=)	NC_000003.11:g.64145745A>G	(Likely) benign	1 lab	96dd06fd87
18:43534660 EPG5 C>T	18	43534660	43534660	C	T	EPG5	c.708G>A	NM_020964.3	NP_066015.2:p.(Leu236=)	NC_000018.9:g.43534660C>T	(Likely) benign	1 lab	96dd7d5583
1:65831733 DNAJC6 A>T	1	65831733	65831733	A	T	DNAJC6	c.397A>T	NM_001256864.2	NP_001243793.1:p.(Met133Leu)	NC_000001.10:g.65831733A>T	VUS	1 lab	96de649350
X:13775769 OFD1 A>T	X	13775769	13775769	A	T	OFD1	c.992-10A>T	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13775769A>T	(Likely) benign	1 lab	96de798b88
22:17663002 ADA2 C>A	22	17663002	17663002	C	A	ADA2	c.1240-90G>T	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17663002C>A	VUS	1 lab	fedc6c0d28
6:80634726 ELOVL4 C>T	6	80634726	80634726	C	T	ELOVL4	c.312G>A	NM_022726.3	NP_073563.1:p.(Ala104=)	NC_000006.11:g.80634726C>T	(Likely) benign	1 lab	96df8f94d0
1:228559456 OBSCN GC>G	1	228559456	228559460	GC	G	OBSCN	c.23852del	NM_001386125.1	NP_001373054.1:p.(Pro7951LeufsTer78)	NC_000001.10:g.228559460del	VUS	1 lab	96e15bab41
2:158626980 ACVR1 C>T	2	158626980	158626980	C	T	ACVR1	c.690G>A	NM_001105.5	NP_001096.1:p.(Glu230=)	NC_000002.11:g.158626980C>T	(Likely) benign	1 lab	fee21b1de3
11:108384666 EXPH5 T>C	11	108384666	108384666	T	C	EXPH5	c.1568A>G	NM_015065.3	NP_055880.2:p.(His523Arg)	NC_000011.9:g.108384666T>C	(Likely) benign	1 lab	96e2a14b42
7:4826002 AP5Z1 C>G	7	4826002	4826002	C	G	AP5Z1	c.1254C>G	NM_014855.3	NP_055670.1:p.(Leu418=)	NC_000007.13:g.4826002C>G	(Likely) benign	1 lab	96e66d79f2
2:233659545 GIGYF2 A>C	2	233659545	233659545	A	C	GIGYF2	c.1370A>C	NM_015575.3	NP_056390.2:p.(Asn457Thr)	NC_000002.11:g.233659545A>C	(Likely) benign	1 lab	96e7405893
17:29576036 NF1 CGG>C	17	29576036	29576038	CGG	C	NF1	c.4010_4011del	NM_001042492.3	NP_001035957.1:p.(Arg1337GlnfsTer7)	NC_000017.10:g.29576037_29576038del	(Likely) pathogenic	1 lab	96e84b3293
1:215848586 USH2A A>G	1	215848586	215848586	A	G	USH2A	c.12667T>C	NM_206933.2	NP_996816.2:p.(Phe4223Leu)	NC_000001.10:g.215848586A>G	VUS	1 lab	96e8f27453
19:6681985 C3 G>A	19	6681985	6681985	G	A	C3	c.4317C>T	NM_000064.2	NP_000055.2:p.(Ser1439=)	NC_000019.9:g.6681985G>A	(Likely) benign	1 lab	96f4418e08
4:2829339 SH3BP2 A>G	4	2829339	2829339	A	G	SH3BP2	c.524A>G	NM_003023.4	NP_003014.3:p.(Glu175Gly)	NC_000004.11:g.2829339A>G	VUS	1 lab	fee2d4128d
10:14950582 DCLRE1C C>CT	10	14950582	14950588	C	CT	DCLRE1C	c.1543dup	NM_001289079.1	NP_001276008.1:p.(Ser515LysfsTer6)	NC_000010.10:g.14950588dup	(Likely) pathogenic	1 lab	96eadb3e5d
12:124172643 TCTN2 C>T	12	124172643	124172643	C	T	TCTN2	c.810C>T	NM_024809.4	NP_079085.2:p.(Asp270=)	NC_000012.11:g.124172643C>T	(Likely) benign	1 lab	96ebcaedba
20:34065838 CEP250 A>G	20	34065838	34065838	A	G	CEP250	c.2006A>G	NM_007186.5	NP_009117.2:p.(Gln669Arg)	NC_000020.10:g.34065838A>G	(Likely) benign	1 lab	96ecc0346e
18:57106797 CCBE1 G>A	18	57106797	57106797	G	A	CCBE1	c.929C>T	NM_133459.4	NP_597716.1:p.(Ala310Val)	NC_000018.9:g.57106797G>A	VUS	1 lab	96eccbd0fa
9:36882099 PAX5 C>T	9	36882099	36882099	C	T	PAX5	c.914G>A	NM_016734.2	NP_057953.1:p.(Arg305His)	NC_000009.11:g.36882099C>T	VUS	1 lab	96ecf2b059
11:73978162 P4HA3 C>T	11	73978162	73978162	C	T	P4HA3	c.1759G>A	NM_001288748.1	NP_001275677.1:p.(Ala587Thr)	NC_000011.9:g.73978162C>T	(Likely) benign	1 lab	96ed191c21
8:100883871 VPS13B G>C	8	100883871	100883871	G	C	VPS13B	c.11766G>C	NM_017890.4	NP_060360.3:p.(Gln3922His)	NC_000008.10:g.100883871G>C	VUS	1 lab	96ed850640
2:18768828 NT5C1B-RDH14 T>A	2	18768828	18768828	T	A	NT5C1B-RDH14	c.61A>T	NM_001199104.1	NP_001186033.1:p.(Ser21Cys)	NC_000002.11:g.18768828T>A	(Likely) benign	1 lab	96ee989074
X:7023831 PUDP T>G	X	7023831	7023831	T	G	PUDP	c.179A>C	NM_001135565.1	NP_001129037.1:p.(Tyr60Ser)	NC_000023.10:g.7023831T>G	(Likely) benign	1 lab	96ef109f2d
20:2378593 TGM6 C>G	20	2378593	2378593	C	G	TGM6	c.573C>G	NM_198994.2	NP_945345.2:p.(Leu191=)	NC_000020.10:g.2378593C>G	(Likely) benign	1 lab	96efcfdd67
9:14863797 FREM1 T>G	9	14863797	14863797	T	G	FREM1	c.329+10A>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14863797T>G	(Likely) benign	1 lab	96f1aaff1c
4:15482421 CC2D2A C>T	4	15482421	15482421	C	T	CC2D2A	c.323C>T	NM_020785.2	NP_065836.2:p.(Pro108Leu)	NC_000004.11:g.15482421C>T	VUS	1 lab	96f33ecc86
17:42980189 DNAAF19 G>A	17	42980189	42980189	G	A	DNAAF19	c.*483G>A	NM_001258397.3	NP_001245326.1:p.?	NC_000017.10:g.42980189G>A	(Likely) benign	1 lab	feea1f1f03
2:170063685 LRP2 C>T	2	170063685	170063685	C	T	LRP2	c.6545G>A	NM_004525.3	NP_004516.2:p.(Arg2182His)	NC_000002.11:g.170063685C>T	VUS	1 lab	96f6c0aa11
15:62212467 VPS13C C>T	15	62212467	62212467	C	T	VPS13C	c.7276G>A	NM_001018088.2	NP_001018098.1:p.(Val2426Ile)	NC_000015.9:g.62212467C>T	(Likely) benign	1 lab	96f75e8d57
10:127438014 EDRF1 G>A	10	127438014	127438014	G	A	EDRF1	c.3055G>A	NM_015608.2	NP_056423.2:p.(Val1019Met)	NC_000010.10:g.127438014G>A	(Likely) benign	1 lab	96f7a7ffc5
1:16464599 EPHA2 C>T	1	16464599	16464599	C	T	EPHA2	c.1061G>A	NM_004431.4	NP_004422.2:p.(Ser354Asn)	NC_000001.10:g.16464599C>T	(Likely) benign	1 lab	96f8a80856
2:42396775 EML4 C>A	2	42396775	42396775	C	A	EML4	c.24C>A	NM_019063.5	NP_061936.3:p.(Leu8=)	NC_000002.11:g.42396775C>A	VUS	1 lab	96fb3eaa9b
9:43627236 SPATA31A6 TG>T	9	43627236	43627240	TG	T	SPATA31A6	c.1450del	NM_001145196.1	NP_001138668.1:p.(Gln484AsnfsTer30)	NC_000009.11:g.43627240del	VUS	1 lab	96fb7b7654
21:33044363 SCAF4 T>C	21	33044363	33044363	T	C	SCAF4	c.2793A>G	NM_020706.2	NP_065757.1:p.(Pro931=)	NC_000021.8:g.33044363T>C	(Likely) benign	1 lab	96fbffae65
16:4383490 GLIS2 C>T	16	4383490	4383490	C	T	GLIS2	c.315C>T	NM_001318918.1	NP_001305847.1:p.(Asn105=)	NC_000016.9:g.4383490C>T	(Likely) benign	1 lab	96fc239452
4:6302412 WFS1 T>C	4	6302412	6302412	T	C	WFS1	c.890T>C	NM_006005.3	NP_005996.2:p.(Met297Thr)	NC_000004.11:g.6302412T>C	(Likely) benign	1 lab	96fc3d7595
8:133669100 DNAAF11 T>C	8	133669100	133669100	T	C	DNAAF11	c.232A>G	NM_012472.5	NP_036604.2:p.(Ile78Val)	NC_000008.10:g.133669100T>C	VUS	1 lab	96fcd4abc4
1:27426971 SLC9A1 C>T	1	27426971	27426971	C	T	SLC9A1	c.2275G>A	NM_003047.4	NP_003038.2:p.(Asp759Asn)	NC_000001.10:g.27426971C>T	(Likely) benign	1 lab	96fda88ab3
1:74835136 TNNI3K A>T	1	74835136	74835136	A	T	TNNI3K	c.1534A>T	NM_015978.2	NP_057062.1:p.(Ile512Phe)	NC_000001.10:g.74835136A>T	VUS	1 lab	96fe2ef615
14:24618058 RNF31 G>A	14	24618058	24618058	G	A	RNF31	c.604G>A	NM_017999.5	NP_060469.4:p.(Gly202Ser)	NC_000014.8:g.24618058G>A	(Likely) benign	1 lab	96fe840f88
5:80369104 RASGRF2 T>C	5	80369104	80369104	T	C	RASGRF2	c.720T>C	NM_006909.2	NP_008840.1:p.(Ser240=)	NC_000005.9:g.80369104T>C	(Likely) benign	1 lab	96ffbd1b74
19:14626775 DNAJB1 G>A	19	14626775	14626775	G	A	DNAJB1	c.1000C>T	NM_006145.3	NP_006136.1:p.(Leu334Phe)	NC_000019.9:g.14626775G>A	VUS	1 lab	9702ac93b6
16:82660738 CDH13 C>A	16	82660738	82660738	C	A	CDH13	c.76C>A	NM_001220488.1	NP_001207417.1:p.(Pro26Thr)	NC_000016.9:g.82660738C>A	VUS	1 lab	970325a8ea
2:179464447 TTN A>T	2	179464447	179464447	A	T	TTN	c.56181T>A	NM_001267550.1	NP_001254479.1:p.(Asp18727Glu)	NC_000002.11:g.179464447A>T	VUS	1 lab	9704b312a3
X:53240751 KDM5C G>A	X	53240751	53240751	G	A	KDM5C	c.1329C>T	NM_004187.3	NP_004178.2:p.(Asp443=)	NC_000023.10:g.53240751G>A	(Likely) benign	1 lab	9705f3c930
8:16032753 MSR1 T>C	8	16032753	16032753	T	C	MSR1	c.160A>G	NM_138715.2	NP_619729.1:p.(Ile54Val)	NC_000008.10:g.16032753T>C	(Likely) benign	1 lab	97065a1174
16:1497456 CLCN7 G>C	16	1497456	1497456	G	C	CLCN7	c.2187C>G	NM_001287.5	NP_001278.1:p.(Asp729Glu)	NC_000016.9:g.1497456G>C	(Likely) benign	1 lab	97072ea2b7
19:42776027 CIC G>T	19	42776027	42776027	G	T	CIC	c.92G>T	NM_001304815.1	NP_001291744.1:p.(Arg31Leu)	NC_000019.9:g.42776027G>T	(Likely) benign	1 lab	9707fb2eab
17:16229133 PIGL G>A	17	16229133	16229133	G	A	PIGL	c.680G>A	NM_004278.3	NP_004269.1:p.(Arg227His)	NC_000017.10:g.16229133G>A	(Likely) benign	1 lab	97085bb56b
9:135797337 TSC1 CGA>C	9	135797337	135797341	CGA	C	TSC1	c.530_531del	NM_000368.5	NP_000359.1:p.(Leu177ArgfsTer40)	NC_000009.11:g.135797340_135797341del	(Likely) pathogenic	1 lab	9708b9c833
13:51504795 RNASEH2B C>T	13	51504795	51504795	C	T	RNASEH2B	c.245-24C>T	NM_024570.3	NP_078846.2:p.?	NC_000013.10:g.51504795C>T	(Likely) benign	1 lab	9709ff52b1
8:144996784 PLEC C>T	8	144996784	144996784	C	T	PLEC	c.7724G>A	NM_201380.3	NP_958782.1:p.(Arg2575Gln)	NC_000008.10:g.144996784C>T	VUS	1 lab	970ad11965
X:13785241 OFD1 A>ATTAG	X	13785241	13785245	A	ATTAG	OFD1	c.2180-4_2180-1dup	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13785242_13785245dup	VUS	1 lab	970b6cdfb3
5:36686192 SLC1A3 G>A	5	36686192	36686192	G	A	SLC1A3	c.1450G>A	NM_004172.4	NP_004163.3:p.(Val484Ile)	NC_000005.9:g.36686192G>A	VUS	1 lab	970c4838f2
13:31774279 B3GLCT A>C	13	31774279	31774279	A	C	B3GLCT	c.58A>C	NM_194318.3	NP_919299.3:p.(Thr20Pro)	NC_000013.10:g.31774279A>C	(Likely) benign	1 lab	970cd7a922
3:164733005 SI C>G	3	164733005	164733005	C	G	SI	c.3905G>C	NM_001041.3	NP_001032.2:p.(Gly1302Ala)	NC_000003.11:g.164733005C>G	(Likely) benign	1 lab	970e6de067
19:5751673 CATSPERD A>C	19	5751673	5751673	A	C	CATSPERD	c.1003A>C	NM_152784.4	NP_689997.3:p.(Ile335Leu)	NC_000019.9:g.5751673A>C	(Likely) benign	1 lab	970eb7d8fb
17:29661950 NF1 AAG>A	17	29661950	29661954	AAG	A	NF1	c.5910_5911del	NM_001042492.3	NP_001035957.1:p.(Arg1970SerfsTer6)	NC_000017.10:g.29661953_29661954del	(Likely) pathogenic	1 lab	97123e5f2a
13:86368865 SLITRK6 C>T	13	86368865	86368865	C	T	SLITRK6	c.1779G>A	NM_032229.3	NP_115605.2:p.(Thr593=)	NC_000013.10:g.86368865C>T	(Likely) benign	1 lab	9714d93399
1:237580392 RYR2 T>A	1	237580392	237580392	T	A	RYR2	c.817T>A	NM_001035.2	NP_001026.2:p.(Ser273Thr)	NC_000001.10:g.237580392T>A	VUS	1 lab	9719a32abd
17:29654794 NF1 A>T	17	29654794	29654794	A	T	NF1	c.5483A>T	NM_000267.3	NP_000258.1:p.(Asp1828Val)	NC_000017.10:g.29654794A>T	VUS	1 lab	971a32919b
2:233620985 GIGYF2 G>A	2	233620985	233620985	G	A	GIGYF2	c.320G>A	NM_015575.3	NP_056390.2:p.(Arg107Gln)	NC_000002.11:g.233620985G>A	VUS	1 lab	971b5c2636
4:126329918 FAT4 T>A	4	126329918	126329918	T	A	FAT4	c.5889T>A	NM_001291303.1	NP_001278232.1:p.(Val1963=)	NC_000004.11:g.126329918T>A	(Likely) benign	1 lab	971d8e8552
11:76823716 CAPN5 C>T	11	76823716	76823716	C	T	CAPN5	c.379C>T	NM_004055.4	NP_004046.2:p.(Arg127Cys)	NC_000011.9:g.76823716C>T	(Likely) benign	1 lab	971e02899b
7:114302194 FOXP2 T>C	7	114302194	114302194	T	C	FOXP2	c.1797T>C	NM_148898.3	NP_683696.2:p.(Thr599=)	NC_000007.13:g.114302194T>C	(Likely) benign	1 lab	971e853560
6:158923682 TULP4 T>C	6	158923682	158923682	T	C	TULP4	c.2987T>C	NM_020245.5	NP_064630.2:p.(Leu996Pro)	NC_000006.11:g.158923682T>C	VUS	1 lab	971f30c8c2
20:34061856 CEP250 C>T	20	34061856	34061856	C	T	CEP250	c.1550C>T	NM_007186.5	NP_009117.2:p.(Ala517Val)	NC_000020.10:g.34061856C>T	VUS	1 lab	971f95a486
10:123276975 FGFR2 G>A	10	123276975	123276975	G	A	FGFR2	c.942C>T	NM_000141.4	NP_000132.3:p.(Ala314=)	NC_000010.10:g.123276975G>A	(Likely) benign	1 lab	971fbc4d79
8:145624983 CPSF1 C>T	8	145624983	145624983	C	T	CPSF1	c.1237G>A	NM_013291.3	NP_037423.2:p.(Asp413Asn)	NC_000008.10:g.145624983C>T	(Likely) benign	1 lab	9721337d40
10:95399916 PDE6C T>C	10	95399916	95399916	T	C	PDE6C	c.1572T>C	NM_006204.3	NP_006195.3:p.(Cys524=)	NC_000010.10:g.95399916T>C	(Likely) benign	1 lab	9722cda50f
3:52457252 PHF7 A>G	3	52457252	52457252	A	G	PHF7	c.1065A>G	NM_016483.7	NP_057567.3:p.(Pro355=)	NC_000003.11:g.52457252A>G	(Likely) benign	1 lab	9723c55e9b
2:48818912 STON1-GTF2A1L G>C	2	48818912	48818912	G	C	STON1-GTF2A1L	c.2051G>C	NM_172311.2	NP_758515.1:p.(Arg684Thr)	NC_000002.11:g.48818912G>C	(Likely) benign	1 lab	9725b4fdea
11:6651956 DCHS1 G>C	11	6651956	6651956	G	C	DCHS1				NC_000011.9:g.6651956G>C	(Likely) benign	1 lab	972639b57c
20:47601337 ARFGEF2 A>ACATAGCCC	20	47601337	47601345	A	ACATAGCCC	ARFGEF2	c.2031_2038dup	NM_006420.2	NP_006411.2:p.(Gln680ProfsTer2)	NC_000020.10:g.47601338_47601345dup	(Likely) pathogenic	1 lab	972701f9ae
X:153172137 AVPR2 C>T	X	153172137	153172137	C	T	AVPR2	c.1071C>T	NM_000054.5	NP_000045.1:p.(Ser357=)	NC_000023.10:g.153172137C>T	(Likely) benign	1 lab	97288a7c59
10:85964306 CDHR1 C>T	10	85964306	85964306	C	T	CDHR1	c.807C>T	NM_033100.4	NP_149091.1:p.(Val269=)	NC_000010.10:g.85964306C>T	VUS	1 lab	9728bf4a2b
15:40594342 PLCB2 C>T	15	40594342	40594342	C	T	PLCB2	c.501G>A	NM_004573.2	NP_004564.2:p.(Val167=)	NC_000015.9:g.40594342C>T	VUS	1 lab	9728ec964e
17:63533600 AXIN2 G>A	17	63533600	63533600	G	A	AXIN2	c.1554C>T	NM_004655.3	NP_004646.3:p.(Tyr518=)	NC_000017.10:g.63533600G>A	(Likely) benign	1 lab	972a51907a
11:17594735 OTOG CG>C	11	17594735	17594736	CG	C	OTOG	c.2192del	NM_001292063.2	NP_001278992.1:p.(Arg731ProfsTer72)	NC_000011.9:g.17594736del	(Likely) pathogenic	1 lab	972c0f88e6
2:179586789 TTN A>T	2	179586789	179586789	A	T	TTN	c.22601T>A	NM_001267550.1	NP_001254479.1:p.(Phe7534Tyr)	NC_000002.11:g.179586789A>T	VUS	1 lab	972c44b006
2:69379327 ANTXR1 C>T	2	69379327	69379327	C	T	ANTXR1	c.978C>T	NM_032208.2	NP_115584.1:p.(Ala326=)	NC_000002.11:g.69379327C>T	(Likely) benign	1 lab	972cff8b63
13:48830358 ITM2B G>A	13	48830358	48830358	G	A	ITM2B	c.292G>A	NM_021999.5	NP_068839.1:p.(Val98Ile)	NC_000013.10:g.48830358G>A	(Likely) benign	1 lab	972f0746c7
7:128484190 FLNC C>T	7	128484190	128484190	C	T	FLNC	c.3062C>T	NM_001458.4	NP_001449.3:p.(Ala1021Val)	NC_000007.13:g.128484190C>T	(Likely) benign	1 lab	972fdda532
X:124454075 TEX13C C>G	X	124454075	124454075	C	G	TEX13C	c.107C>G	NM_001195272.2	NP_001182201.1:p.(Thr36Arg)	NC_000023.10:g.124454075C>G	(Likely) benign	1 lab	972ff94076
15:80869201 ARNT2 TC>T	15	80869201	80869203	TC	T	ARNT2	c.1514-4del	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80869203del	(Likely) benign	1 lab	97304c525e
4:47973100 CNGA1 C>T	4	47973100	47973100	C	T	CNGA1	c.18G>A	NM_001142564.1	NP_001136036.1:p.(Ser6=)	NC_000004.11:g.47973100C>T	(Likely) benign	1 lab	973107d39f
21:46875978 COL18A1 G>T	21	46875978	46875978	G	T	COL18A1	c.534G>T	NM_130444.3	NP_569711.2:p.(Pro178=)	NC_000021.8:g.46875978G>T	(Likely) benign	1 lab	97324c8915
9:35748376 GBA2 C>T	9	35748376	35748376	C	T	GBA2	c.326G>A	NM_020944.2	NP_065995.1:p.(Ser109Asn)	NC_000009.11:g.35748376C>T	(Likely) benign	1 lab	97325001c1
6:131948816 MED23 T>TA	6	131948816	131948830	T	TA	MED23	c.40-5dup	NM_004830.4	NP_004821.2:p.?	NC_000006.11:g.131948830dup	(Likely) benign	1 lab	973420eb72
9:139333645 INPP5E G>GC	9	139333645	139333646	G	GC	INPP5E	c.226dup	NM_019892.5	NP_063945.2:p.(Ala76GlyfsTer75)	NC_000009.11:g.139333646dup	(Likely) pathogenic	1 lab	9738202f12
10:292763 ZMYND11 C>T	10	292763	292763	C	T	ZMYND11	c.957C>T	NM_001330057.1	NP_001316986.1:p.(His319=)	NC_000010.10:g.292763C>T	(Likely) benign	1 lab	9738fc9dcb
5:127664415 FBN2 G>A	5	127664415	127664415	G	A	FBN2	c.4444C>T	NM_001999.3	NP_001990.2:p.(Pro1482Ser)	NC_000005.9:g.127664415G>A	VUS	1 lab	973922ca6d
7:92148322 PEX1 T>TAG	7	92148322	92148323	T	TAG	PEX1	c.343_344insCT	NM_000466.2	NP_000457.1:p.(Asp115AlafsTer18)	NC_000007.13:g.92148322_92148323insAG	(Likely) pathogenic	1 lab	973965852b
18:77703344 SLC66A2 G>A	18	77703344	77703344	G	A	SLC66A2	c.322C>T	NM_025078.5	NP_079354.2:p.(Arg108Cys)	NC_000018.9:g.77703344G>A	VUS	1 lab	97397b8776
2:47635688 MSH2 ATATAAGGTAAT>A	2	47635688	47635702	ATATAAGGTAAT	A	MSH2	c.364_366+8del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635692_47635702del	(Likely) pathogenic	1 lab	973aa55f5a
4:110885699 EGF G>T	4	110885699	110885699	G	T	EGF	c.1575+6G>T	NM_001963.5	NP_001954.2:p.?	NC_000004.11:g.110885699G>T	(Likely) benign	1 lab	973c111762
X:15768286 CA5B C>T	X	15768286	15768286	C	T	CA5B	c.140C>T	NM_007220.3	NP_009151.1:p.(Ala47Val)	NC_000023.10:g.15768286C>T	(Likely) benign	1 lab	973ca4c875
15:28362259 HERC2 G>A	15	28362259	28362259	G	A	HERC2	c.13314C>T	NM_004667.5	NP_004658.3:p.(Asp4438=)	NC_000015.9:g.28362259G>A	(Likely) benign	1 lab	973e0d890f
13:32912843 BRCA2 GATCAGAA>G	13	32912843	32912851	GATCAGAA	G	BRCA2	c.4353_4359del	NM_000059.4	NP_000050.3:p.(Pro1454AsnfsTer7)	NC_000013.10:g.32912845_32912851del	(Likely) pathogenic	1 lab	fefc436d15
5:121402450 LOX T>A	5	121402450	121402450	T	A	LOX	c.1248-6A>T	NM_002317.6	NP_002308.2:p.?	NC_000005.9:g.121402450T>A	(Likely) benign	1 lab	97411ca0fb
14:50760863 L2HGDH C>T	14	50760863	50760863	C	T	L2HGDH	c.510G>A	NM_024884.2	NP_079160.1:p.(Glu170=)	NC_000014.8:g.50760863C>T	(Likely) benign	1 lab	9741a81075
7:143048761 CLCN1 G>T	7	143048761	143048761	G	T	CLCN1	c.2670G>T	NM_000083.2	NP_000074.2:p.(Thr890=)	NC_000007.13:g.143048761G>T	(Likely) benign	1 lab	9741ed8367
X:74376035 ABCB7 C>G	X	74376035	74376035	C	G	ABCB7	c.73G>C	NM_004299.6	NP_004290.2:p.(Ala25Pro)	NC_000023.10:g.74376035C>G	(Likely) benign	1 lab	9744059f4d
7:120629880 CPED1 A>G	7	120629880	120629880	A	G	CPED1	c.205A>G	NM_024913.5	NP_079189.4:p.(Lys69Glu)	NC_000007.13:g.120629880A>G	(Likely) benign	1 lab	9744865c47
X:73963349 NEXMIF C>T	X	73963349	73963349	C	T	NEXMIF	c.1043G>A	NM_001008537.2	NP_001008537.1:p.(Arg348Gln)	NC_000023.10:g.73963349C>T	VUS	1 lab	9744a137a6
12:6554714 CD27 T>C	12	6554714	6554714	T	C	CD27	c.261T>C	NM_001242.4	NP_001233.1:p.(Cys87=)	NC_000012.11:g.6554714T>C	(Likely) benign	1 lab	9744a1c52b
9:140917824 CACNA1B G>C	9	140917824	140917824	G	C	CACNA1B	c.2629G>C	NM_000718.3	NP_000709.1:p.(Gly877Arg)	NC_000009.11:g.140917824G>C	(Likely) benign	1 lab	9745706c2d
16:4934352 PPL GCTT>G	16	4934352	4934359	GCTT	G	PPL	c.4301_4303del	NM_002705.5	NP_002696.4:p.(Glu1434del)	NC_000016.9:g.4934357_4934359del	VUS	1 lab	fefd7ba6f2
2:73678048 ALMS1 C>T	2	73678048	73678048	C	T	ALMS1	c.4397C>T	NM_015120.4	NP_055935.4:p.(Thr1466Met)	NC_000002.11:g.73678048C>T	VUS	1 lab	974641031b
X:37027630 FAM47C C>T	X	37027630	37027630	C	T	FAM47C	c.1147C>T	NM_001013736.2	NP_001013758.1:p.(Pro383Ser)	NC_000023.10:g.37027630C>T	(Likely) benign	1 lab	9746c81bab
20:44520232 CTSA C>T	20	44520232	44520232	C	T	CTSA	c.25C>T	NM_001127695.2	NP_001121167.1:p.(Leu9=)	NC_000020.10:g.44520232C>T	(Likely) benign	1 lab	9746f8781b
X:20043997 MAP7D2 G>A	X	20043997	20043997	G	A	MAP7D2	c.1081C>T	NM_001168465.2	NP_001161937.1:p.(Arg361Cys)	NC_000023.10:g.20043997G>A	VUS	1 lab	9748c10a17
9:104130469 BAAT C>G	9	104130469	104130469	C	G	BAAT	c.602G>C	NM_001701.4	NP_001692.1:p.(Arg201Pro)	NC_000009.11:g.104130469C>G	(Likely) benign	1 lab	ff064c6206
15:72642918 HEXA C>T	15	72642918	72642918	C	T	HEXA	c.779G>A	NM_001318825.1	NP_001305754.1:p.(Arg260Gln)	NC_000015.9:g.72642918C>T	VUS	1 lab	9749dab672
8:57890707 BPNT2 A>G	8	57890707	57890707	A	G	BPNT2	c.551-3T>C	NM_017813.4	NP_060283.3:p.?	NC_000008.10:g.57890707A>G	(Likely) benign	1 lab	974af810ef
X:34148958 FAM47A G>T	X	34148958	34148958	G	T	FAM47A	c.1438C>A	NM_203408.3	NP_981953.2:p.(Pro480Thr)	NC_000023.10:g.34148958G>T	VUS	1 lab	974cf7887e
11:17553067 USH1C C>T	11	17553067	17553067	C	T	USH1C	c.127G>A	NM_153676.3	NP_710142.1:p.(Val43Met)	NC_000011.9:g.17553067C>T	VUS	1 lab	974deb8be1
17:38176553 MED24 T>C	17	38176553	38176553	T	C	MED24	c.2734A>G	NM_001330211.1	NP_001317140.1:p.(Met912Val)	NC_000017.10:g.38176553T>C	VUS	1 lab	974ecac8b0
2:26712124 OTOF C>G	2	26712124	26712124	C	G	OTOF	c.1000G>C	NM_194248.2	NP_919224.1:p.(Val334Leu)	NC_000002.11:g.26712124C>G	VUS	1 lab	97505bfee1
16:90001768 TUBB3 C>T	16	90001768	90001768	C	T	TUBB3	c.909C>T	NM_006086.4	NP_006077.2:p.(Cys303=)	NC_000016.9:g.90001768C>T	(Likely) benign	1 lab	975088d172
12:49426673 KMT2D G>C	12	49426673	49426673	G	C	KMT2D	c.11815C>G	NM_003482.3	NP_003473.3:p.(Gln3939Glu)	NC_000012.11:g.49426673G>C	(Likely) benign	1 lab	9750e10512
8:10480394 RP1L1 A>T	8	10480394	10480394	A	T	RP1L1	c.318T>A	NM_178857.5	NP_849188.4:p.(Asp106Glu)	NC_000008.10:g.10480394A>T	VUS	1 lab	975174a7c3
18:67759372 RTTN G>C	18	67759372	67759372	G	C	RTTN	c.4117C>G	NM_173630.3	NP_775901.3:p.(Pro1373Ala)	NC_000018.9:g.67759372G>C	VUS	1 lab	975177b0ef
5:149509426 PDGFRB C>T	5	149509426	149509426	C	T	PDGFRB	c.1473G>A	NM_002609.3	NP_002600.1:p.(Val491=)	NC_000005.9:g.149509426C>T	(Likely) benign	1 lab	975183f402
8:62578029 ASPH T>C	8	62578029	62578029	T	C	ASPH	c.459A>G	NM_020164.4	NP_064549.1:p.(Leu153=)	NC_000008.10:g.62578029T>C	(Likely) benign	1 lab	97522ad179
16:30977372 SETD1A G>A	16	30977372	30977372	G	A	SETD1A	c.2170G>A	NM_014712.2	NP_055527.1:p.(Ala724Thr)	NC_000016.9:g.30977372G>A	(Likely) benign	1 lab	9753d33211
7:128492743 FLNC A>G	7	128492743	128492743	A	G	FLNC	c.5941A>G	NM_001458.4	NP_001449.3:p.(Ile1981Val)	NC_000007.13:g.128492743A>G	(Likely) benign	1 lab	975699640b
18:7015737 LAMA1 G>A	18	7015737	7015737	G	A	LAMA1	c.3110C>T	NM_005559.3	NP_005550.2:p.(Ala1037Val)	NC_000018.9:g.7015737G>A	(Likely) benign	1 lab	9757d451cd
17:29657369 NF1 G>T	17	29657369	29657369	G	T	NF1	c.5602G>T	NM_000267.3	NP_000258.1:p.(Glu1868Ter)	NC_000017.10:g.29657369G>T	(Likely) pathogenic	1 lab	9758049187
22:39627838 PDGFB A>C	22	39627838	39627838	A	C	PDGFB	c.251-6T>G	NM_002608.3	NP_002599.1:p.?	NC_000022.10:g.39627838A>C	(Likely) benign	1 lab	975831683e
9:132576466 TOR1A G>A	9	132576466	132576466	G	A	TOR1A	c.784C>T	NM_000113.2	NP_000104.1:p.(Leu262Phe)	NC_000009.11:g.132576466G>A	VUS	1 lab	975bdd8aba
5:37176047 CPLANE1 T>A	5	37176047	37176047	T	A	CPLANE1	c.5942A>T	NM_023073.3	NP_075561.3:p.(Gln1981Leu)	NC_000005.9:g.37176047T>A	VUS	1 lab	975cbe6885
1:156626137 BCAN G>A	1	156626137	156626137	G	A	BCAN	c.2006G>A	NM_021948.4	NP_068767.3:p.(Arg669His)	NC_000001.10:g.156626137G>A	VUS	1 lab	975cc11f98
1:20980799 DDOST G>A	1	20980799	20980799	G	A	DDOST	c.762C>T	NM_005216.4	NP_005207.2:p.(Arg254=)	NC_000001.10:g.20980799G>A	(Likely) benign	1 lab	975d01ba79
16:89167075 ACSF3 C>CCGGGAG	16	89167075	89167078	C	CCGGGAG	ACSF3	c.-13_-12insGGAGCG	NM_001243279.3	NP_001230208.1:p.?	NC_000016.9:g.89167077_89167078insGGAGCG	(Likely) benign	1 lab	ff07c1b374
6:86282090 SNX14 C>A	6	86282090	86282090	C	A	SNX14	c.264G>T	NM_153816.5	NP_722523.1:p.(Gln88His)	NC_000006.11:g.86282090C>A	(Likely) benign	1 lab	975d764fff
X:131216452 FRMD7 C>T	X	131216452	131216452	C	T	FRMD7	c.844G>A	NM_194277.2	NP_919253.1:p.(Glu282Lys)	NC_000023.10:g.131216452C>T	(Likely) benign	1 lab	975da75ac3
3:10387242 ATP2B2 G>A	3	10387242	10387242	G	A	ATP2B2	c.2394C>T	NM_001330611.2	NP_001317540.1:p.(Asp798=)	NC_000003.11:g.10387242G>A	(Likely) benign	1 lab	975f277673
2:179457657 TTN G>A	2	179457657	179457657	G	A	TTN	c.59189C>T	NM_001267550.1	NP_001254479.1:p.(Ala19730Val)	NC_000002.11:g.179457657G>A	VUS	1 lab	975fec4fba
14:105411345 AHNAK2 G>T	14	105411345	105411345	G	T	AHNAK2	c.10443C>A	NM_138420.3	NP_612429.2:p.(Pro3481=)	NC_000014.8:g.105411345G>T	(Likely) benign	1 lab	97614bd284
1:33478847 AK2 C>T	1	33478847	33478847	C	T	AK2	c.511G>A	NM_001319139.1	NP_001306068.1:p.(Val171Met)	NC_000001.10:g.33478847C>T	VUS	1 lab	9762813530
2:60995913 PAPOLG C>T	2	60995913	60995913	C	T	PAPOLG	c.329-3C>T	NM_022894.4	NP_075045.2:p.?	NC_000002.11:g.60995913C>T	(Likely) benign	1 lab	9762b14341
10:27512166 ACBD5 G>A	10	27512166	27512166	G	A	ACBD5	c.487C>T	NM_001352571.1	NP_001339500.1:p.(Arg163Ter)	NC_000010.10:g.27512166G>A	(Likely) pathogenic	1 lab	97651de72a
16:70891647 HYDIN G>C	16	70891647	70891647	G	C	HYDIN	c.12256C>G	NM_001270974.2	NP_001257903.1:p.(Leu4086Val)	NC_000016.9:g.70891647G>C	VUS	1 lab	97655562e7
19:55568048 RDH13 G>A	19	55568048	55568048	G	A	RDH13	c.100C>T	NM_138412.3	NP_612421.1:p.(Arg34Ter)	NC_000019.9:g.55568048G>A	VUS	1 lab	9765c4e476
1:24418795 MYOM3 G>C	1	24418795	24418795	G	C	MYOM3	c.1101C>G	NM_152372.4	NP_689585.3:p.(Ala367=)	NC_000001.10:g.24418795G>C	(Likely) benign	1 lab	9765e3e59f
X:125299239 DCAF12L2 G>A	X	125299239	125299239	G	A	DCAF12L2	c.669C>T	NM_001013628.2	NP_001013650.1:p.(Asp223=)	NC_000023.10:g.125299239G>A	(Likely) benign	1 lab	97664a6db8
20:34092501 CEP250 A>G	20	34092501	34092501	A	G	CEP250	c.6304A>G	NM_007186.5	NP_009117.2:p.(Thr2102Ala)	NC_000020.10:g.34092501A>G	(Likely) benign	1 lab	9768439b5f
10:52751170 PRKG1 T>C	10	52751170	52751170	T	C	PRKG1	c.32T>C	NM_001098512.3	NP_001091982.1:p.(Ile11Thr)	NC_000010.10:g.52751170T>C	(Likely) benign	1 lab	97690bf44b
6:18122502 NHLRC1 T>C	6	18122502	18122502	T	C	NHLRC1	c.336A>G	NM_198586.2	NP_940988.2:p.(Gly112=)	NC_000006.11:g.18122502T>C	(Likely) benign	1 lab	976ac56924
16:1268428 CACNA1H C>T	16	1268428	1268428	C	T	CACNA1H	c.5664C>T	NM_021098.2	NP_066921.2:p.(Pro1888=)	NC_000016.9:g.1268428C>T	(Likely) benign	1 lab	976b4d0799
11:601591 PHRF1 C>T	11	601591	601591	C	T	PHRF1	c.1042C>T	NM_020901.3	NP_065952.2:p.(Pro348Ser)	NC_000011.9:g.601591C>T	(Likely) benign	1 lab	976b7f45f1
11:17532069 USH1C C>CCAG	11	17532069	17532070	C	CCAG	USH1C	c.1414-2_1414-1insCTG	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17532069_17532070insCAG	VUS	1 lab	976b98736c
11:67287369 CABP2 G>A	11	67287369	67287369	G	A	CABP2	c.532C>T	NM_016366.2	NP_057450.2:p.(Arg178Trp)	NC_000011.9:g.67287369G>A	VUS	1 lab	976d1c21ba
1:110230800 GSTM1 C>A	1	110230800	110230800	C	A	GSTM1	c.45C>A	NM_000561.3	NP_000552.2:p.(His15Gln)	NC_000001.10:g.110230800C>A	(Likely) benign	1 lab	976fa339d4
3:9792744 OGG1 G>T	3	9792744	9792744	G	T	OGG1	c.253G>T	NM_016828.2	NP_058437.1:p.(Ala85Ser)	NC_000003.11:g.9792744G>T	(Likely) benign	1 lab	976ff6becd
5:35861018 IL7R T>C	5	35861018	35861018	T	C	IL7R				NC_000005.9:g.35861018T>C	(Likely) benign	1 lab	9771e1c2d4
14:102510608 DYNC1H1 C>T	14	102510608	102510608	C	T	DYNC1H1	c.12685-3C>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102510608C>T	(Likely) benign	1 lab	97740050a9
13:39433597 FREM2 G>T	13	39433597	39433597	G	T	FREM2	c.7389G>T	NM_207361.5	NP_997244.4:p.(Lys2463Asn)	NC_000013.10:g.39433597G>T	VUS	1 lab	97749eae8e
X:106221327 MORC4 C>T	X	106221327	106221327	C	T	MORC4	c.1039G>A	NM_024657.5	NP_078933.3:p.(Val347Met)	NC_000023.10:g.106221327C>T	(Likely) benign	1 lab	9774a5ab69
11:34981990 PDHX G>A	11	34981990	34981990	G	A	PDHX	c.566G>A	NM_003477.2	NP_003468.2:p.(Arg189His)	NC_000011.9:g.34981990G>A	(Likely) benign	1 lab	977595849b
3:149700196 TMEM183BP G>A	3	149700196	149700196	G	A	TMEM183BP	c.900C>T	NM_001079809.1	NP_001073277.1:p.(Leu300=)	NC_000003.11:g.149700196G>A	(Likely) benign	1 lab	9775cf14ab
5:167919755 RARS1 C>T	5	167919755	167919755	C	T	RARS1	c.272C>T	NM_002887.3	NP_002878.2:p.(Ala91Val)	NC_000005.9:g.167919755C>T	VUS	1 lab	97767914ef
1:34630644 CSMD2 C>T	1	34630644	34630644	C	T	CSMD2	c.55G>A	NM_001281956.1	NP_001268885.1:p.(Ala19Thr)	NC_000001.10:g.34630644C>T	VUS	1 lab	9776e6b89c
11:1651157 KRTAP5-5 A>G	11	1651157	1651157	A	G	KRTAP5-5	c.87A>G	NM_001001480.2	NP_001001480.2:p.(Gly29=)	NC_000011.9:g.1651157A>G	(Likely) benign	1 lab	9777330b41
14:105239192 AKT1 T>C	14	105239192	105239192	T	C	AKT1	c.1172+23A>G	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105239192T>C	(Likely) benign	1 lab	9779764ea2
21:43808587 TMPRSS3 G>A	21	43808587	43808587	G	A	TMPRSS3	c.371C>T	NM_024022.2	NP_076927.1:p.(Ser124Leu)	NC_000021.8:g.43808587G>A	VUS	1 lab	977b9e0444
5:147477443 SPINK5 A>G	5	147477443	147477443	A	G	SPINK5	c.896A>G	NM_001127698.1	NP_001121170.1:p.(Gln299Arg)	NC_000005.9:g.147477443A>G	VUS	1 lab	977cd610a1
16:57144766 CPNE2 C>T	16	57144766	57144766	C	T	CPNE2	c.112C>T	NM_152727.6	NP_689940.3:p.(Arg38Trp)	NC_000016.9:g.57144766C>T	VUS	1 lab	977dd37b4b
1:57528551 DAB1 A>G	1	57528551	57528551	A	G	DAB1	c.723+6T>C	NM_021080.4	NP_066566.3:p.?	NC_000001.10:g.57528551A>G	(Likely) benign	1 lab	977df4a0e4
17:29554553 NF1 A>ACC	17	29554553	29554555	A	ACC	NF1	c.2339_2340insCC	NM_000267.3	NP_000258.1:p.(Ala782MetfsTer10)	NC_000017.10:g.29554554_29554555insCC	(Likely) pathogenic	1 lab	97800f6b68
X:153031763 PLXNB3 G>A	X	153031763	153031763	G	A	PLXNB3	c.98G>A	NM_001163257.1	NP_001156729.1:p.(Arg33Gln)	NC_000023.10:g.153031763G>A	(Likely) benign	1 lab	978105ccaa
X:71425714 ERCC6L G>C	X	71425714	71425714	G	C	ERCC6L	c.2903C>G	NM_017669.4	NP_060139.2:p.(Ser968Cys)	NC_000023.10:g.71425714G>C	VUS	1 lab	9782a18e23
17:29533272 NF1 GTGGCC>G	17	29533272	29533278	GTGGCC	G	NF1	c.1277_1281del	NM_001042492.3	NP_001035957.1:p.(Trp426Ter)	NC_000017.10:g.29533274_29533278del	(Likely) pathogenic	1 lab	9782a51264
7:56172125 CHCHD2 C>T	7	56172125	56172125	C	T	CHCHD2	c.94G>A	NM_001320327.1	NP_001307256.1:p.(Ala32Thr)	NC_000007.13:g.56172125C>T	VUS	1 lab	9782ae0599
2:179471797 TTN G>A	2	179471797	179471797	G	A	TTN	c.53532C>T	NM_001267550.1	NP_001254479.1:p.(Gly17844=)	NC_000002.11:g.179471797G>A	(Likely) benign	1 lab	978482e89d
12:32945385 PKP2 G>A	12	32945385	32945385	G	A	PKP2	c.2619C>T	NM_004572.4	NP_004563.2:p.(Ala873=)	NC_000012.11:g.32945385G>A	(Likely) benign	1 lab	ff099d9f04
11:71726396 NUMA1 A>G	11	71726396	71726396	A	G	NUMA1	c.2153T>C	NM_001286561.1	NP_001273490.1:p.(Leu718Pro)	NC_000011.9:g.71726396A>G	VUS	1 lab	978655c474
16:3779219 CREBBP C>T	16	3779219	3779219	C	T	CREBBP	c.5829G>A	NM_004380.2	NP_004371.2:p.(Pro1943=)	NC_000016.9:g.3779219C>T	(Likely) benign	1 lab	978802c93d
10:104356822 SUFU A>G	10	104356822	104356822	A	G	SUFU	c.757-75A>G	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104356822A>G	(Likely) benign	1 lab	9789db0f23
4:2831233 SH3BP2 C>T	4	2831233	2831233	C	T	SH3BP2	c.684C>T	NM_001145855.2	NP_001139327.1:p.(His228=)	NC_000004.11:g.2831233C>T	(Likely) benign	1 lab	978a7567ae
12:111351973 MYL2 C>G	12	111351973	111351973	C	G	MYL2	c.274+17G>C	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351973C>G	(Likely) benign	1 lab	978b3ea217
19:4099269 MAP2K2 CACGGGCCGGCCAAAGATGGCCTCCAGCTCTTTGGCGTCGG>C	19	4099269	4099309	CACGGGCCGGCCAAAGATGGCCTCCAGCTCTTTGGCGTCGG	C	MAP2K2	c.809_848del	NM_030662.4	NP_109587.1:p.(Pro270ArgfsTer44)	NC_000019.9:g.4099270_4099309del	VUS	1 lab	ff0a5f7d04
12:124242458 ATP6V0A2 C>CT	12	124242458	124242471	C	CT	ATP6V0A2	c.2466-3dup	NM_012463.4	NP_036595.2:p.?	NC_000012.11:g.124242471dup	(Likely) benign	1 lab	ff0b31244f
9:131340442 SPTAN1 T>C	9	131340442	131340442	T	C	SPTAN1	c.1139T>C	NM_001130438.3	NP_001123910.1:p.(Met380Thr)	NC_000009.11:g.131340442T>C	VUS	1 lab	ff0cafb569
20:62289614 RTEL1 G>C	20	62289614	62289614	G	C	RTEL1	c.-376G>C	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62289614G>C	(Likely) benign	1 lab	979132ef45
5:162886 PLEKHG4B C>T	5	162886	162886	C	T	PLEKHG4B	c.2699C>T	NM_052909.4	NP_443141.4:p.(Pro900Leu)	NC_000005.9:g.162886C>T	(Likely) benign	1 lab	9792fc26b8
X:49067820 CACNA1F C>T	X	49067820	49067820	C	T	CACNA1F	c.4255G>A	NM_005183.4	NP_005174.2:p.(Ala1419Thr)	NC_000023.10:g.49067820C>T	VUS	1 lab	ff111118b7
9:77415167 TRPM6 T>C	9	77415167	77415167	T	C	TRPM6	c.2238+3A>G	NM_017662.4	NP_060132.3:p.?	NC_000009.11:g.77415167T>C	VUS	1 lab	9793ff8573
15:89864190 POLG C>T	15	89864190	89864190	C	T	POLG	c.2788G>A	NM_002693.2	NP_002684.1:p.(Asp930Asn)	NC_000015.9:g.89864190C>T	VUS	1 lab	979515d32b
21:47851672 PCNT G>A	21	47851672	47851672	G	A	PCNT	c.8294G>A	NM_006031.5	NP_006022.3:p.(Arg2765Gln)	NC_000021.8:g.47851672G>A	VUS	1 lab	97962242e3
17:73498112 CASKIN2 T>C	17	73498112	73498112	T	C	CASKIN2	c.3043A>G	NM_020753.4	NP_065804.2:p.(Thr1015Ala)	NC_000017.10:g.73498112T>C	(Likely) benign	1 lab	9796e64822
14:68250088 ZFYVE26 C>T	14	68250088	68250088	C	T	ZFYVE26	c.3781G>A	NM_015346.3	NP_056161.2:p.(Ala1261Thr)	NC_000014.8:g.68250088C>T	(Likely) benign	1 lab	97987a2ac6
16:31336888 ITGAM C>T	16	31336888	31336888	C	T	ITGAM	c.2576C>T	NM_001145808.2	NP_001139280.1:p.(Ala859Val)	NC_000016.9:g.31336888C>T	(Likely) benign	1 lab	ff15a7989b
11:6236059 FHIP1B C>T	11	6236059	6236059	C	T	FHIP1B	c.2340G>A	NM_032127.3	NP_115503.2:p.(Leu780=)	NC_000011.9:g.6236059C>T	(Likely) benign	1 lab	979d49e1c6
3:195518131 MUC4 A>G	3	195518131	195518131	A	G	MUC4	c.320T>C	NM_018406.6	NP_060876.5:p.(Val107Ala)	NC_000003.11:g.195518131A>G	(Likely) benign	1 lab	979dcd1027
X:36064979 CFAP47 C>T	X	36064979	36064979	C	T	CFAP47	c.4016C>T	NM_001304548.1	NP_001291477.1:p.(Thr1339Ile)	NC_000023.10:g.36064979C>T	(Likely) benign	1 lab	979eacfb88
X:101139737 ZMAT1 T>A	X	101139737	101139737	T	A	ZMAT1	c.149A>T	NM_001282400.1	NP_001269329.1:p.(Gln50Leu)	NC_000023.10:g.101139737T>A	VUS	1 lab	979f6c400d
8:17143907 VPS37A A>T	8	17143907	17143907	A	T	VPS37A	c.877A>T	NM_001363172.1	NP_001350101.1:p.(Met293Leu)	NC_000008.10:g.17143907A>T	(Likely) benign	1 lab	97a044ab26
3:69058927 EOGT G>C	3	69058927	69058927	G	C	EOGT	c.71C>G	NM_001278689.1	NP_001265618.1:p.(Pro24Arg)	NC_000003.11:g.69058927G>C	(Likely) benign	1 lab	97a079e31c
X:152027296 NSDHL C>CT	X	152027296	152027299	C	CT	NSDHL	c.268-15dup	NM_015922.3	NP_057006.1:p.?	NC_000023.10:g.152027299dup	(Likely) benign	1 lab	97a240c37b
3:141719133 TFDP2 G>A	3	141719133	141719133	G	A	TFDP2	c.63C>T	NM_001178140.1	NP_001171611.1:p.(Ala21=)	NC_000003.11:g.141719133G>A	(Likely) benign	1 lab	97a2658eff
16:50745353 NOD2 A>G	16	50745353	50745353	A	G	NOD2	c.1531A>G	NM_022162.3	NP_071445.1:p.(Thr511Ala)	NC_000016.9:g.50745353A>G	VUS	1 lab	ff1b665105
6:105239514 HACE1 A>G	6	105239514	105239514	A	G	HACE1	c.939T>C	NM_020771.3	NP_065822.2:p.(Tyr313=)	NC_000006.11:g.105239514A>G	(Likely) benign	1 lab	97a549af20
1:27709645 CD164L2 C>CCA	1	27709645	27709649	C	CCA	CD164L2	c.83_84dup	NM_207397.4	NP_997280.2:p.(Ala29TrpfsTer14)	NC_000001.10:g.27709648_27709649dup	VUS	1 lab	97a55d5cb4
12:105519876 WASHC4 C>T	12	105519876	105519876	C	T	WASHC4	c.881C>T	NM_001293640.1	NP_001280569.1:p.(Ser294Leu)	NC_000012.11:g.105519876C>T	VUS	1 lab	97a688b8d7
3:3215954 CRBN A>G	3	3215954	3215954	A	G	CRBN	c.175-9T>C	NM_016302.4	NP_057386.2:p.?	NC_000003.11:g.3215954A>G	(Likely) benign	1 lab	ff1c630eec
2:27700872 IFT172 C>T	2	27700872	27700872	C	T	IFT172	c.1157G>A	NM_015662.2	NP_056477.1:p.(Arg386Gln)	NC_000002.11:g.27700872C>T	(Likely) benign	1 lab	97a75d281e
9:96021548 WNK2 C>G	9	96021548	96021548	C	G	WNK2	c.2718C>G	NM_001282394.1	NP_001269323.1:p.(Leu906=)	NC_000009.11:g.96021548C>G	(Likely) benign	1 lab	97a7787d04
20:60906132 LAMA5 G>C	20	60906132	60906132	G	C	LAMA5	c.3606C>G	NM_005560.4	NP_005551.3:p.(Pro1202=)	NC_000020.10:g.60906132G>C	(Likely) benign	1 lab	97a99a75a7
16:88493939 ZNF469 C>T	16	88493939	88493939	C	T	ZNF469				NC_000016.9:g.88493939C>T	VUS	1 lab	97aa220ef8
11:1264187 MUC5B C>T	11	1264187	1264187	C	T	MUC5B	c.6077C>T	NM_002458.2	NP_002449.2:p.(Thr2026Met)	NC_000011.9:g.1264187C>T	(Likely) benign	1 lab	97ab422a95
6:24873164 RIPOR2 G>T	6	24873164	24873164	G	T	RIPOR2	c.281C>A	NM_014722.4	NP_055537.2:p.(Thr94Lys)	NC_000006.11:g.24873164G>T	(Likely) benign	1 lab	97abf2656b
5:73183486 ARHGEF28 A>G	5	73183486	73183486	A	G	ARHGEF28	c.3369A>G	NM_001080479.2	NP_001073948.2:p.(Lys1123=)	NC_000005.9:g.73183486A>G	(Likely) benign	1 lab	97ac7d10d8
1:22150813 HSPG2 C>A	1	22150813	22150813	C	A	HSPG2	c.12804G>T	NM_001291860.1	NP_001278789.1:p.(Gly4268=)	NC_000001.10:g.22150813C>A	(Likely) benign	1 lab	97accddf36
18:33795581 MOCOS G>A	18	33795581	33795581	G	A	MOCOS	c.1438G>A	NM_017947.3	NP_060417.3:p.(Ala480Thr)	NC_000018.9:g.33795581G>A	(Likely) benign	1 lab	97ad175d6b
17:29528042 NF1 G>A	17	29528042	29528042	G	A	NF1	c.1063-13G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528042G>A	(Likely) pathogenic	1 lab	97ad73bf21
1:3334480 PRDM16 A>C	1	3334480	3334480	A	C	PRDM16	c.2780A>C	NM_022114.3	NP_071397.3:p.(His927Pro)	NC_000001.10:g.3334480A>C	VUS	1 lab	97afc93165
2:73115612 SPR C>T	2	73115612	73115612	C	T	SPR	c.474C>T	NM_003124.4	NP_003115.1:p.(Leu158=)	NC_000002.11:g.73115612C>T	(Likely) benign	1 lab	97b3b2612a
15:23890657 MAGEL2 G>C	15	23890657	23890657	G	C	MAGEL2	c.2233C>G	NM_019066.4	NP_061939.3:p.(Pro745Ala)	NC_000015.9:g.23890657G>C	VUS	1 lab	97b3fda86e
5:66480218 CD180 C>T	5	66480218	66480218	C	T	CD180	c.453G>A	NM_005582.3	NP_005573.2:p.(Leu151=)	NC_000005.9:g.66480218C>T	(Likely) benign	1 lab	97b40748eb
1:16727312 SPATA21 C>T	1	16727312	16727312	C	T	SPATA21	c.1008G>A	NM_001353349.1	NP_001340278.1:p.(Leu336=)	NC_000001.10:g.16727312C>T	(Likely) benign	1 lab	97b43cee4d
16:89348633 ANKRD11 C>T	16	89348633	89348633	C	T	ANKRD11	c.4317G>A	NM_001256182.1	NP_001243111.1:p.(Lys1439=)	NC_000016.9:g.89348633C>T	(Likely) benign	1 lab	97b5203f79
6:161159648 PLG T>C	6	161159648	161159648	T	C	PLG	c.1877+4T>C	NM_000301.3	NP_000292.1:p.?	NC_000006.11:g.161159648T>C	(Likely) benign	1 lab	97b5caa451
X:70346905 MED12 G>A	X	70346905	70346905	G	A	MED12	c.2772G>A	NM_005120.2	NP_005111.2:p.(Leu924=)	NC_000023.10:g.70346905G>A	(Likely) benign	1 lab	97b73a18d8
11:111782431 CRYAB G>T	11	111782431	111782431	G	T	CRYAB	c.18C>A	NM_001885.2	NP_001876.1:p.(His6Gln)	NC_000011.9:g.111782431G>T	(Likely) benign	1 lab	97b76e0858
X:53227003 KDM5C C>T	X	53227003	53227003	C	T	KDM5C	c.2572G>A	NM_004187.3	NP_004178.2:p.(Asp858Asn)	NC_000023.10:g.53227003C>T	(Likely) benign	1 lab	97b770c09b
12:52100398 SCN8A C>T	12	52100398	52100398	C	T	SCN8A	c.1534C>T	NM_001330260.1	NP_001317189.1:p.(Pro512Ser)	NC_000012.11:g.52100398C>T	(Likely) benign	1 lab	97b7d6c4a9
11:1277970 MUC5B C>T	11	1277970	1277970	C	T	MUC5B	c.16206C>T	NM_002458.2	NP_002449.2:p.(Asn5402=)	NC_000011.9:g.1277970C>T	(Likely) benign	1 lab	97b7f16919
10:50736469 ERCC6 C>T	10	50736469	50736469	C	T	ERCC6	c.646G>A	NM_000124.2	NP_000115.1:p.(Asp216Asn)	NC_000010.10:g.50736469C>T	VUS	1 lab	97b8749d53
1:171080129 FMO3 C>G	1	171080129	171080129	C	G	FMO3	c.758C>G	NM_001319173.1	NP_001306102.1:p.(Pro253Arg)	NC_000001.10:g.171080129C>G	VUS	1 lab	97b899eb27
2:112740547 MERTK G>T	2	112740547	112740547	G	T	MERTK	c.1273G>T	NM_006343.2	NP_006334.2:p.(Val425Leu)	NC_000002.11:g.112740547G>T	(Likely) benign	1 lab	97b913e136
18:31319363 ASXL3 A>G	18	31319363	31319363	A	G	ASXL3	c.1995A>G	NM_030632.2	NP_085135.1:p.(Arg665=)	NC_000018.9:g.31319363A>G	(Likely) benign	1 lab	97b943428b
2:159077189 CCDC148 G>A	2	159077189	159077189	G	A	CCDC148	c.1288C>T	NM_138803.3	NP_620158.3:p.(Gln430Ter)	NC_000002.11:g.159077189G>A	VUS	1 lab	97b9e7e0d4
19:3772009 RAX2 CTG>C	19	3772009	3772024	CTG	C	RAX2	c.-268-3_-268-2del	NM_001319074.4	NP_001306003.2:p.?	NC_000019.9:g.3772023_3772024del	(Likely) benign	1 lab	97bb96ce6f
8:10467596 RP1L1 A>G	8	10467596	10467596	A	G	RP1L1	c.4012T>C	NM_178857.5	NP_849188.4:p.(Leu1338=)	NC_000008.10:g.10467596A>G	(Likely) benign	1 lab	97bbca6303
1:74836059 TNNI3K A>G	1	74836059	74836059	A	G	TNNI3K	c.1755A>G	NM_015978.3	NP_057062.1:p.(Ile585Met)	NC_000001.10:g.74836059A>G	VUS	1 lab	ff1c701b3b
16:3778199 CREBBP G>A	16	3778199	3778199	G	A	CREBBP	c.6849C>T	NM_004380.2	NP_004371.2:p.(Ser2283=)	NC_000016.9:g.3778199G>A	(Likely) benign	1 lab	97c146502f
16:1260082 CACNA1H G>T	16	1260082	1260082	G	T	CACNA1H	c.3792G>T	NM_021098.2	NP_066921.2:p.(Gln1264His)	NC_000016.9:g.1260082G>T	(Likely) benign	1 lab	97c24af680
21:47841952 PCNT C>T	21	47841952	47841952	C	T	PCNT	c.7093C>T	NM_006031.5	NP_006022.3:p.(Pro2365Ser)	NC_000021.8:g.47841952C>T	(Likely) benign	1 lab	97c2c5423f
X:49957174 AKAP4 C>T	X	49957174	49957174	C	T	AKAP4	c.2190G>A	NM_003886.2	NP_003877.2:p.(Ser730=)	NC_000023.10:g.49957174C>T	(Likely) benign	1 lab	97c339255c
8:118812040 EXT1 TCAGCGGCATGTAGCCAAAC>T	8	118812040	118812063	TCAGCGGCATGTAGCCAAAC	T	EXT1	c.2133_2151del	NM_000127.3	NP_000118.2:p.(Trp711Ter)	NC_000008.10:g.118812045_118812063del	(Likely) pathogenic	1 lab	97c46d4cce
11:67378926 NDUFV1 G>A	11	67378926	67378926	G	A	NDUFV1	c.966G>A	NM_007103.3	NP_009034.2:p.(Ser322=)	NC_000011.9:g.67378926G>A	(Likely) benign	1 lab	97c4773137
1:152282443 FLG C>T	1	152282443	152282443	C	T	FLG	c.4919G>A	NM_002016.1	NP_002007.1:p.(Arg1640Lys)	NC_000001.10:g.152282443C>T	(Likely) benign	1 lab	97c47c49ee
1:235884059 LYST G>C	1	235884059	235884059	G	C	LYST	c.9462C>G	NM_000081.3	NP_000072.2:p.(Gly3154=)	NC_000001.10:g.235884059G>C	(Likely) benign	1 lab	97c509ae4c
14:64692044 SYNE2 G>A	14	64692044	64692044	G	A	SYNE2	c.20524G>A	NM_182914.2	NP_878918.2:p.(Gly6842Ser)	NC_000014.8:g.64692044G>A	(Likely) benign	1 lab	97c59772f4
X:50376900 SHROOM4 G>A	X	50376900	50376900	G	A	SHROOM4	c.2173C>T	NM_020717.3	NP_065768.2:p.(His725Tyr)	NC_000023.10:g.50376900G>A	(Likely) benign	1 lab	97c8a867fd
18:56247600 ALPK2 C>A	18	56247600	56247600	C	A	ALPK2	c.408G>T	NM_052947.4	NP_443179.3:p.(Arg136Ser)	NC_000018.9:g.56247600C>A	(Likely) benign	1 lab	97cc0b344a
17:53499042 MMD A>T	17	53499042	53499042	A	T	MMD	c.15T>A	NM_012329.3	NP_036461.2:p.(Asn5Lys)	NC_000017.10:g.53499042A>T	(Likely) benign	1 lab	97cea814ba
17:1264611 YWHAE TA>T	17	1264611	1264627	TA	T	YWHAE	c.372-20del	NM_006761.5	NP_006752.1:p.?	NC_000017.10:g.1264627del	(Likely) benign	1 lab	97d0092cd7
8:140631204 KCNK9 T>C	8	140631204	140631204	T	C	KCNK9	c.422A>G	NM_001282534.1	NP_001269463.1:p.(Lys141Arg)	NC_000008.10:g.140631204T>C	(Likely) benign	1 lab	97d32e0de0
X:103294818 H2BW2 T>C	X	103294818	103294818	T	C	H2BW2	c.275T>C	NM_001164416.1	NP_001157888.1:p.(Ile92Thr)	NC_000023.10:g.103294818T>C	(Likely) benign	1 lab	97d41dbbe6
1:3342302 PRDM16 G>A	1	3342302	3342302	G	A	PRDM16	c.3097G>A	NM_022114.3	NP_071397.3:p.(Glu1033Lys)	NC_000001.10:g.3342302G>A	VUS	1 lab	97d45c57b8
4:123132216 BLTP1 A>G	4	123132216	123132216	A	G	BLTP1	c.2213A>G	NM_015312.4	NP_056127.2:p.(Tyr738Cys)	NC_000004.11:g.123132216A>G	VUS	1 lab	ff2353dde2
15:91293213 BLM G>A	15	91293213	91293213	G	A	BLM	c.715G>A	NM_001287246.1	NP_001274175.1:p.(Asp239Asn)	NC_000015.9:g.91293213G>A	(Likely) benign	1 lab	97d51c673e
10:73437316 CDH23 G>A	10	73437316	73437316	G	A	CDH23	c.1618G>A	NM_022124.5	NP_071407.4:p.(Gly540Ser)	NC_000010.10:g.73437316G>A	VUS	1 lab	97d5411542
8:100791139 VPS13B A>C	8	100791139	100791139	A	C	VPS13B	c.7734A>C	NM_017890.4	NP_060360.3:p.(Ala2578=)	NC_000008.10:g.100791139A>C	(Likely) benign	1 lab	97d5670697
12:23728699 SOX5 G>A	12	23728699	23728699	G	A	SOX5	c.1199C>T	NM_152989.4	NP_694534.1:p.(Thr400Ile)	NC_000012.11:g.23728699G>A	VUS	1 lab	97d6ff2c93
2:227968684 COL4A4 T>C	2	227968684	227968684	T	C	COL4A4	c.816+4A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227968684T>C	VUS	1 lab	97d7638430
21:37650343 DOP1B G>A	21	37650343	37650343	G	A	DOP1B	c.5783G>A	NM_005128.3	NP_005119.2:p.(Arg1928His)	NC_000021.8:g.37650343G>A	(Likely) benign	1 lab	97d86f7b06
21:47959828 DIP2A C>A	21	47959828	47959828	C	A	DIP2A	c.1963C>A	NM_001353942.1	NP_001340871.1:p.(Gln655Lys)	NC_000021.8:g.47959828C>A	(Likely) benign	1 lab	97d8ea6cf0
X:24329884 SUPT20HL2 AAGCAGGAGCAGCAGCAGGAGCAGGAGCAGG>A	X	24329884	24329931	AAGCAGGAGCAGCAGCAGGAGCAGGAGCAGG	A	SUPT20HL2	c.1519_1548del	NM_001136233.3	NP_001129705.3:p.(Pro507_Ala516del)	NC_000023.10:g.24329902_24329931del	VUS	1 lab	97d94fccb6
6:3225021 TUBB2B C>T	6	3225021	3225021	C	T	TUBB2B	c.1302G>A	NM_178012.4	NP_821080.1:p.(Gly434=)	NC_000006.11:g.3225021C>T	(Likely) benign	1 lab	97d95a959f
X:131212670 FRMD7 T>G	X	131212670	131212670	T	G	FRMD7	c.1375A>C	NM_194277.2	NP_919253.1:p.(Ile459Leu)	NC_000023.10:g.131212670T>G	(Likely) benign	1 lab	97d96febf9
4:619535 PDE6B C>CGAGGA	4	619535	619536	C	CGAGGA	PDE6B	c.120_121insGAGGA	NM_000283.3	NP_000274.2:p.(Pro41GlufsTer111)	NC_000004.11:g.619535_619536insGAGGA	(Likely) pathogenic	1 lab	97dc440bb2
20:62319129 RTEL1 G>A	20	62319129	62319129	G	A	RTEL1	c.1553+6G>A	NM_032957.5	NP_116575.3:p.?	NC_000020.10:g.62319129G>A	(Likely) benign	1 lab	ff25cdd560
12:120150403 CIT G>A	12	120150403	120150403	G	A	CIT	c.4677C>T	NM_001206999.1	NP_001193928.1:p.(Ala1559=)	NC_000012.11:g.120150403G>A	(Likely) benign	1 lab	97dd454108
1:23420044 LUZP1 T>G	1	23420044	23420044	T	G	LUZP1	c.711A>C	NM_033631.3	NP_361013.3:p.(Arg237Ser)	NC_000001.10:g.23420044T>G	(Likely) benign	1 lab	97de7f648c
9:134398402 POMT1 C>G	9	134398402	134398402	C	G	POMT1	c.2087C>G	NM_001136113.1	NP_001129585.1:p.(Pro696Arg)	NC_000009.11:g.134398402C>G	VUS	1 lab	97de9eb2c2
2:69569344 GFPT1 G>A	2	69569344	69569344	G	A	GFPT1	c.1143C>T	NM_001244710.1	NP_001231639.1:p.(Ile381=)	NC_000002.11:g.69569344G>A	(Likely) benign	1 lab	97dea98106
19:51890480 LIM2 C>T	19	51890480	51890480	C	T	LIM2	c.218G>A	NM_030657.3	NP_085915.2:p.(Ser73Asn)	NC_000019.9:g.51890480C>T	VUS	1 lab	97df845592
6:118879865 PLN A>G	6	118879865	118879865	A	G	PLN	c.-97-123A>G	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118879865A>G	(Likely) benign	1 lab	97e06adb23
16:57954437 CNGB1 C>T	16	57954437	57954437	C	T	CNGB1	c.1655G>A	NM_001297.4	NP_001288.3:p.(Arg552His)	NC_000016.9:g.57954437C>T	VUS	1 lab	97e13269df
7:75610880 POR C>T	7	75610880	75610880	C	T	POR	c.687C>T	NM_001367562.1	NP_001354491.1:p.(Ala229=)	NC_000007.13:g.75610880C>T	(Likely) benign	1 lab	97e276db06
8:11995065 USP17L2 C>G	8	11995065	11995065	C	G	USP17L2	c.1205G>C	NM_201402.2	NP_958804.2:p.(Arg402Pro)	NC_000008.10:g.11995065C>G	(Likely) benign	1 lab	97e4d0b57d
7:121756684 AASS C>A	7	121756684	121756684	C	A	AASS	c.894+3G>T	NM_005763.3	NP_005754.2:p.?	NC_000007.13:g.121756684C>A	VUS	1 lab	97e5f8a6c9
12:49427522 KMT2D G>A	12	49427522	49427522	G	A	KMT2D	c.10966C>T	NM_003482.4	NP_003473.3:p.(Arg3656Cys)	NC_000012.11:g.49427522G>A	(Likely) benign	1 lab	ff2c90d48a
11:78775960 TENM4 C>T	11	78775960	78775960	C	T	TENM4	c.316G>A	NM_001098816.2	NP_001092286.2:p.(Gly106Ser)	NC_000011.9:g.78775960C>T	(Likely) benign	1 lab	97ec56c68b
4:144387342 GAB1 C>T	4	144387342	144387342	C	T	GAB1	c.1980C>T	NM_207123.2	NP_997006.1:p.(Leu660=)	NC_000004.11:g.144387342C>T	(Likely) benign	1 lab	97ec82491a
9:32542801 TOPORS C>T	9	32542801	32542801	C	T	TOPORS	c.1722G>A	NM_005802.4	NP_005793.2:p.(Leu574=)	NC_000009.11:g.32542801C>T	(Likely) benign	1 lab	97ecc35bd6
8:145003713 PLEC G>A	8	145003713	145003713	G	A	PLEC	c.3361C>T	NM_201380.3	NP_958782.1:p.(Arg1121Cys)	NC_000008.10:g.145003713G>A	VUS	1 lab	97ee604bae
6:137527446 IFNGR1 C>G	6	137527446	137527446	C	G	IFNGR1	c.201-1G>C	NM_000416.2	NP_000407.1:p.?	NC_000006.11:g.137527446C>G	(Likely) pathogenic	1 lab	97f542b474
14:64519063 SYNE2 T>TA	14	64519063	64519064	T	TA	SYNE2	c.8433dup	NM_182914.2	NP_878918.2:p.(Arg2812ThrfsTer21)	NC_000014.8:g.64519064dup	VUS	1 lab	97f6249d23
2:27360995 PRR30 G>A	2	27360995	27360995	G	A	PRR30	c.203C>T	NM_178553.4	NP_848648.2:p.(Ser68Phe)	NC_000002.11:g.27360995G>A	VUS	1 lab	97f7664cdd
16:81929435 PLCG2 G>A	16	81929435	81929435	G	A	PLCG2	c.1096G>A	NM_002661.3	NP_002652.2:p.(Gly366Arg)	NC_000016.9:g.81929435G>A	VUS	1 lab	97f7690829
X:24745085 POLA1 A>G	X	24745085	24745085	A	G	POLA1	c.1428A>G	NM_001330360.1	NP_001317289.1:p.(Gly476=)	NC_000023.10:g.24745085A>G	(Likely) benign	1 lab	97f818ddc3
17:78166339 CARD14 G>A	17	78166339	78166339	G	A	CARD14	c.1277G>A	NM_024110.4	NP_077015.2:p.(Arg426Gln)	NC_000017.10:g.78166339G>A	(Likely) benign	1 lab	97f8525b77
11:128842759 ARHGAP32 C>T	11	128842759	128842759	C	T	ARHGAP32	c.3600G>A	NM_001142685.1	NP_001136157.1:p.(Gln1200=)	NC_000011.9:g.128842759C>T	(Likely) benign	1 lab	97f8a883b6
8:100887785 VPS13B C>A	8	100887785	100887785	C	A	VPS13B	c.11960C>A	NM_017890.4	NP_060360.3:p.(Pro3987His)	NC_000008.10:g.100887785C>A	VUS	1 lab	97f8f4ed50
5:10239279 ATPSCKMT G>A	5	10239279	10239279	G	A	ATPSCKMT	c.206C>T	NM_199133.4	NP_954584.2:p.(Pro69Leu)	NC_000005.9:g.10239279G>A	VUS	1 lab	97f9b1809c
3:133478016 TF T>C	3	133478016	133478016	T	C	TF	c.917-3T>C	NM_001354703.1	NP_001341632.1:p.?	NC_000003.11:g.133478016T>C	(Likely) benign	1 lab	97fa0455ee
X:15596345 ACE2 T>C	X	15596345	15596345	T	C	ACE2	c.1164A>G	NM_021804.2	NP_068576.1:p.(Gln388=)	NC_000023.10:g.15596345T>C	(Likely) benign	1 lab	97fa6e4046
8:145622754 CPSF1 C>T	8	145622754	145622754	C	T	CPSF1	c.2333G>A	NM_013291.3	NP_037423.2:p.(Arg778Gln)	NC_000008.10:g.145622754C>T	VUS	1 lab	97fe92e1bc
2:220370486 GMPPA G>A	2	220370486	220370486	G	A	GMPPA	c.900+3G>A	NM_205847.2	NP_995319.1:p.?	NC_000002.11:g.220370486G>A	(Likely) benign	1 lab	97fee0068c
12:56845065 MIP T>TA	12	56845065	56845066	T	TA	MIP	c.790dup	NM_012064.4	NP_036196.1:p.(Ter264LeuextTer6)	NC_000012.11:g.56845066dup	VUS	1 lab	97feff8891
13:50118933 RCBTB1 T>C	13	50118933	50118933	T	C	RCBTB1	c.1112A>G	NM_018191.3	NP_060661.3:p.(Asp371Gly)	NC_000013.10:g.50118933T>C	VUS	1 lab	97ff032d0b
5:10250132 CCT5 G>A	5	10250132	10250132	G	A	CCT5	c.17G>A	NM_001306153.1	NP_001293082.1:p.(Gly6Glu)	NC_000005.9:g.10250132G>A	(Likely) benign	1 lab	97ff57a5f1
16:2131620 TSC2 TG>T	16	2131620	2131622	TG	T	TSC2	c.3637del	NM_000548.5	NP_000539.2:p.(Glu1213ArgfsTer112)	NC_000016.9:g.2131622del	(Likely) pathogenic	1 lab	97ff93f4e9
X:136649526 ZIC3 A>C	X	136649526	136649526	A	C	ZIC3	c.676A>C	NM_003413.3	NP_003404.1:p.(Met226Leu)	NC_000023.10:g.136649526A>C	VUS	1 lab	97ff97a46c
X:8433819 VCX3B C>G	X	8433819	8433819	C	G	VCX3B	c.136C>G	NM_001001888.3	NP_001001888.3:p.(Arg46Gly)	NC_000023.10:g.8433819C>G	(Likely) benign	1 lab	9801998f1d
9:136507395 DBH G>A	9	136507395	136507395	G	A	DBH	c.553G>A	NM_000787.3	NP_000778.3:p.(Gly185Ser)	NC_000009.11:g.136507395G>A	(Likely) benign	1 lab	98019ca33a
17:41258472 BRCA1 C>T	17	41258472	41258472	C	T	BRCA1	c.212+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258472C>T	(Likely) pathogenic	1 lab	ff2f1da971
19:44660540 ZNF234 T>TC	19	44660540	44660544	T	TC	ZNF234	c.375dup	NM_006630.3	NP_006621.1:p.(Arg126GlnfsTer4)	NC_000019.9:g.44660544dup	VUS	1 lab	ff2f54b583
1:57602217 DAB1 C>T	1	57602217	57602217	C	T	DAB1	c.305G>A	NM_021080.4	NP_066566.3:p.(Gly102Glu)	NC_000001.10:g.57602217C>T	(Likely) benign	1 lab	980378fe1d
9:98240451 PTCH1 G>A	9	98240451	98240451	G	A	PTCH1	c.1035C>T	NM_001083602.1	NP_001077071.1:p.(Val345=)	NC_000009.11:g.98240451G>A	(Likely) benign	1 lab	98056ee7b8
19:36564369 WDR62 A>G	19	36564369	36564369	A	G	WDR62	c.1169A>G	NM_001083961.1	NP_001077430.1:p.(Asp390Gly)	NC_000019.9:g.36564369A>G	VUS	1 lab	980705f95c
9:140952259 CACNA1B C>T	9	140952259	140952259	C	T	CACNA1B	c.4044C>T	NM_000718.3	NP_000709.1:p.(Tyr1348=)	NC_000009.11:g.140952259C>T	(Likely) benign	1 lab	980757ebc4
22:50664542 TUBGCP6 G>A	22	50664542	50664542	G	A	TUBGCP6	c.1770C>T	NM_020461.3	NP_065194.2:p.(His590=)	NC_000022.10:g.50664542G>A	(Likely) benign	1 lab	9807daa443
11:47357547 MYBPC3 G>T	11	47357547	47357547	G	T	MYBPC3	c.2618C>A	NM_000256.3	NP_000247.2:p.(Pro873His)	NC_000011.9:g.47357547G>T	VUS	1 lab	980b0f9abc
3:197408001 RUBCN C>T	3	197408001	197408001	C	T	RUBCN	c.2294G>A	NM_001145642.4	NP_001139114.1:p.(Arg765Gln)	NC_000003.11:g.197408001C>T	(Likely) benign	1 lab	980b6873fd
17:29541604 NF1 G>A	17	29541604	29541604	G	A	NF1	c.1527+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29541604G>A	(Likely) pathogenic	1 lab	980d481318
2:27281318 AGBL5 G>A	2	27281318	27281318	G	A	AGBL5	c.1722G>A	NM_021831.5	NP_068603.4:p.(Pro574=)	NC_000002.11:g.27281318G>A	(Likely) benign	1 lab	980dffcba0
20:34025551 GDF5 A>AG	20	34025551	34025558	A	AG	GDF5	c.157dup	NM_000557.4	NP_000548.2:p.(Leu53ProfsTer41)	NC_000020.10:g.34025558dup	(Likely) pathogenic	1 lab	980f3e4f3e
2:27275874 AGBL5 A>G	2	27275874	27275874	A	G	AGBL5	c.48A>G	NM_021831.5	NP_068603.4:p.(Ser16=)	NC_000002.11:g.27275874A>G	(Likely) benign	1 lab	98106898f3
5:132269933 AFF4 T>C	5	132269933	132269933	T	C	AFF4	c.824A>G	NM_014423.4	NP_055238.1:p.(Tyr275Cys)	NC_000005.9:g.132269933T>C	VUS	1 lab	ff344f7758
7:37903981 NME8 G>A	7	37903981	37903981	G	A	NME8	c.486G>A	NM_016616.4	NP_057700.3:p.(Pro162=)	NC_000007.13:g.37903981G>A	(Likely) benign	1 lab	9810fb5d94
16:2144166 PKD1 C>T	16	2144166	2144166	C	T	PKD1	c.10545G>A	NM_001009944.2	NP_001009944.2:p.(Arg3515=)	NC_000016.9:g.2144166C>T	(Likely) benign	1 lab	98118132f9
8:10470174 RP1L1 G>A	8	10470174	10470174	G	A	RP1L1	c.1434C>T	NM_178857.5	NP_849188.4:p.(Asp478=)	NC_000008.10:g.10470174G>A	(Likely) benign	1 lab	98121d5bc1
1:86850485 ODF2L C>T	1	86850485	86850485	C	T	ODF2L	c.247-1G>A	NM_001007022.3	NP_001007023.2:p.?	NC_000001.10:g.86850485C>T	(Likely) pathogenic	1 lab	9812be449e
12:40748240 LRRK2 A>G	12	40748240	40748240	A	G	LRRK2	c.6716A>G	NM_198578.3	NP_940980.3:p.(Glu2239Gly)	NC_000012.11:g.40748240A>G	VUS	1 lab	98134ec387
11:125301078 MISSING C>A	11	125301078	125301078	C	A	MISSING				NC_000011.9:g.125301078C>A	(Likely) benign	1 lab	9817cb28e5
3:132235633 DNAJC13 G>C	3	132235633	132235633	G	C	DNAJC13	c.5646G>C	NM_015268.4	NP_056083.3:p.(Met1882Ile)	NC_000003.11:g.132235633G>C	(Likely) benign	1 lab	98192b7183
2:179563643 TTN T>TAA	2	179563643	179563658	T	TAA	TTN	c.30683-4_30683-3dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563657_179563658dup	(Likely) benign	1 lab	ff37176ecf
4:79393385 FRAS1 G>A	4	79393385	79393385	G	A	FRAS1	c.7423G>A	NM_025074.7	NP_079350.5:p.(Glu2475Lys)	NC_000004.11:g.79393385G>A	VUS	1 lab	981b5750fb
2:29296700 PCARE G>A	2	29296700	29296700	G	A	PCARE	c.428C>T	NM_001029883.2	NP_001025054.1:p.(Ser143Phe)	NC_000002.11:g.29296700G>A	VUS	1 lab	981c360b45
17:39766683 KRT16 C>A	17	39766683	39766683	C	A	KRT16	c.1180G>T	NM_005557.3	NP_005548.2:p.(Glu394Ter)	NC_000017.10:g.39766683C>A	VUS	1 lab	981e3ff5c8
9:39133065 CNTNAP3 G>A	9	39133065	39133065	G	A	CNTNAP3	c.1944C>T	NM_033655.3	NP_387504.2:p.(Ser648=)	NC_000009.11:g.39133065G>A	(Likely) benign	1 lab	981f1c8256
2:128047307 ERCC3 C>T	2	128047307	128047307	C	T	ERCC3	c.423G>A	NM_001303418.1	NP_001290347.1:p.(Glu141=)	NC_000002.11:g.128047307C>T	(Likely) benign	1 lab	98204ca526
2:172305224 DCAF17 T>C	2	172305224	172305224	T	C	DCAF17	c.355T>C	NM_025000.3	NP_079276.2:p.(Ser119Pro)	NC_000002.11:g.172305224T>C	(Likely) benign	1 lab	9822fd2b28
X:52677375 SSX7 G>A	X	52677375	52677375	G	A	SSX7	c.402C>T	NM_173358.2	NP_775494.1:p.(Asn134=)	NC_000023.10:g.52677375G>A	(Likely) benign	1 lab	9823d6e1f6
2:170031768 LRP2 G>A	2	170031768	170031768	G	A	LRP2	c.10703C>T	NM_004525.3	NP_004516.2:p.(Pro3568Leu)	NC_000002.11:g.170031768G>A	VUS	1 lab	982402368b
16:2159909 PKD1 G>C	16	2159909	2159909	G	C	PKD1	c.5259C>G	NM_001009944.2	NP_001009944.2:p.(Ser1753=)	NC_000016.9:g.2159909G>C	(Likely) benign	1 lab	98240819d9
14:54417121 BMP4 G>A	14	54417121	54417121	G	A	BMP4	c.856C>T	NM_001347916.1	NP_001334845.1:p.(Arg286Ter)	NC_000014.8:g.54417121G>A	(Likely) pathogenic	1 lab	98242bdffa
3:15686625 BTD G>GC	3	15686625	15686627	G	GC	BTD	c.1264dup	NM_000060.4	NP_000051.1:p.(Leu422ProfsTer23)	NC_000003.11:g.15686627dup	(Likely) pathogenic	1 lab	98247a9ebd
13:23912010 SACS CTTCTT>C	13	23912010	23912017	CTTCTT	C	SACS	c.6000_6004del	NM_014363.6	NP_055178.3:p.(Arg2002CysfsTer25)	NC_000013.10:g.23912013_23912017del	(Likely) pathogenic	1 lab	ff37b0593b
17:29422388 NF1 G>T	17	29422388	29422388	G	T	NF1	c.60+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422388G>T	(Likely) pathogenic	1 lab	9826510887
X:153582378 FLNA TTGACGTAATCCACATAGAACTGCAAGGGGC>T	X	153582378	153582409	TTGACGTAATCCACATAGAACTGCAAGGGGC	T	FLNA	c.5537_5566del	NM_001456.4	NP_001447.2:p.(Ser1846_Val1855del)	NC_000023.10:g.153582380_153582409del	VUS	1 lab	ff3da7170f
19:18272212 PIK3R2 C>T	19	18272212	18272212	C	T	PIK3R2	c.722C>T	NM_005027.3	NP_005018.1:p.(Pro241Leu)	NC_000019.9:g.18272212C>T	VUS	1 lab	98266e2dd3
5:37183496 CPLANE1 A>G	5	37183496	37183496	A	G	CPLANE1	c.4787T>C	NM_023073.3	NP_075561.3:p.(Val1596Ala)	NC_000005.9:g.37183496A>G	VUS	1 lab	9827159fd2
2:55883509 PNPT1 TA>T	2	55883509	55883522	TA	T	PNPT1	c.1285-4del	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55883522del	(Likely) benign	1 lab	9827bcda13
16:88786911 PIEZO1 C>T	16	88786911	88786911	C	T	PIEZO1	c.5831G>A	NM_001142864.4	NP_001136336.2:p.(Arg1944His)	NC_000016.9:g.88786911C>T	(Likely) benign	1 lab	982b7fba46
11:70332342 SHANK2 A>G	11	70332342	70332342	A	G	SHANK2	c.4056T>C	NM_012309.4	NP_036441.2:p.(Val1352=)	NC_000011.9:g.70332342A>G	(Likely) benign	1 lab	982c0896eb
19:10600442 KEAP1 G>C	19	10600442	10600442	G	C	KEAP1	c.1413C>G	NM_203500.2	NP_987096.1:p.(Leu471=)	NC_000019.9:g.10600442G>C	(Likely) benign	1 lab	982c7c8fc0
16:20552071 ACSM2B C>A	16	20552071	20552071	C	A	ACSM2B	c.1534G>T	NM_182617.3	NP_872423.3:p.(Ala512Ser)	NC_000016.9:g.20552071C>A	(Likely) benign	1 lab	982db2f101
20:33581207 MYH7B C>T	20	33581207	33581207	C	T	MYH7B	c.2504C>T	NM_020884.4	NP_065935.3:p.(Thr835Met)	NC_000020.10:g.33581207C>T	VUS	1 lab	982f5ca104
10:23481921 PTF1A G>T	10	23481921	23481921	G	T	PTF1A	c.462G>T	NM_178161.2	NP_835455.1:p.(Arg154=)	NC_000010.10:g.23481921G>T	(Likely) benign	1 lab	982f5ea17a
19:50902145 POLD1 G>A	19	50902145	50902145	G	A	POLD1	c.37G>A	NM_001308632.1	NP_001295561.1:p.(Val13Met)	NC_000019.9:g.50902145G>A	(Likely) benign	1 lab	983017fa44
1:216373311 USH2A T>C	1	216373311	216373311	T	C	USH2A	c.3469A>G	NM_206933.2	NP_996816.2:p.(Ile1157Val)	NC_000001.10:g.216373311T>C	(Likely) benign	1 lab	98319147af
5:89992896 ADGRV1 G>A	5	89992896	89992896	G	A	ADGRV1	c.8088G>A	NM_032119.4	NP_115495.3:p.(Leu2696=)	NC_000005.9:g.89992896G>A	(Likely) benign	1 lab	9831d5c756
8:142367290 GPR20 G>A	8	142367290	142367290	G	A	GPR20	c.734C>T	NM_005293.2	NP_005284.2:p.(Thr245Met)	NC_000008.10:g.142367290G>A	VUS	1 lab	9832eccfc3
1:152287232 FLG A>G	1	152287232	152287232	A	G	FLG	c.139-9T>C	NM_002016.1	NP_002007.1:p.?	NC_000001.10:g.152287232A>G	(Likely) benign	1 lab	98358eb4ed
19:45204731 CEACAM16 C>T	19	45204731	45204731	C	T	CEACAM16	c.5C>T	NM_001039213.4	NP_001034302.2:p.(Ala2Val)	NC_000019.9:g.45204731C>T	(Likely) benign	1 lab	98360f89ac
7:80292304 CD36 A>G	7	80292304	80292304	A	G	CD36	c.430-2A>G	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80292304A>G	(Likely) pathogenic	1 lab	983a1dea59
4:126411359 FAT4 C>T	4	126411359	126411359	C	T	FAT4	c.13388C>T	NM_001291303.1	NP_001278232.1:p.(Thr4463Ile)	NC_000004.11:g.126411359C>T	VUS	1 lab	983b202ea0
2:179590695 TTN G>A	2	179590695	179590695	G	A	TTN	c.19403C>T	NM_001256850.1	NP_001243779.1:p.(Ser6468Leu)	NC_000002.11:g.179590695G>A	VUS	1 lab	ff3f8b0d14
18:77477653 CTDP1 G>C	18	77477653	77477653	G	C	CTDP1	c.2187G>C	NM_004715.4	NP_004706.3:p.(Arg729Ser)	NC_000018.9:g.77477653G>C	(Likely) benign	1 lab	983c2d601a
5:82833766 VCAN T>A	5	82833766	82833766	T	A	VCAN	c.4944T>A	NM_004385.4	NP_004376.2:p.(Asp1648Glu)	NC_000005.9:g.82833766T>A	(Likely) benign	1 lab	983e5d2827
X:71846884 PHKA1 C>G	X	71846884	71846884	C	G	PHKA1	c.1730G>C	NM_002637.3	NP_002628.2:p.(Ser577Thr)	NC_000023.10:g.71846884C>G	(Likely) benign	1 lab	983faac26b
19:45899616 PPP1R13L G>A	19	45899616	45899616	G	A	PPP1R13L	c.791C>T	NM_006663.4	NP_006654.2:p.(Ser264Leu)	NC_000019.9:g.45899616G>A	(Likely) benign	1 lab	9840689dcf
12:2717706 CACNA1C C>T	12	2717706	2717706	C	T	CACNA1C	c.3386C>T	NM_000719.7	NP_000710.5:p.(Thr1129Met)	NC_000012.11:g.2717706C>T	(Likely) benign	1 lab	ff40816e6f
5:140590280 PCDHB12 T>C	5	140590280	140590280	T	C	PCDHB12	c.1801T>C	NM_018932.3	NP_061755.1:p.(Trp601Arg)	NC_000005.9:g.140590280T>C	VUS	1 lab	9840eff93e
11:124766487 ROBO4 C>T	11	124766487	124766487	C	T	ROBO4	c.480G>A	NM_019055.5	NP_061928.4:p.(Pro160=)	NC_000011.9:g.124766487C>T	(Likely) benign	1 lab	98419e81b3
1:237787068 RYR2 A>C	1	237787068	237787068	A	C	RYR2	c.5920A>C	NM_001035.2	NP_001026.2:p.(Asn1974His)	NC_000001.10:g.237787068A>C	VUS	1 lab	9843cf222a
22:26688733 SEZ6L G>T	22	26688733	26688733	G	T	SEZ6L	c.456G>T	NM_021115.4	NP_066938.2:p.(Gln152His)	NC_000022.10:g.26688733G>T	(Likely) benign	1 lab	9843d084f9
7:151873488 KMT2C G>T	7	151873488	151873488	G	T	KMT2C	c.9050C>A	NM_170606.2	NP_733751.2:p.(Thr3017Lys)	NC_000007.13:g.151873488G>T	VUS	1 lab	98458b0bde
1:68895506 RPE65 C>T	1	68895506	68895506	C	T	RPE65	c.1555G>A	NM_000329.2	NP_000320.1:p.(Glu519Lys)	NC_000001.10:g.68895506C>T	VUS	1 lab	984640df2f
X:110973649 ALG13 C>T	X	110973649	110973649	C	T	ALG13	c.2161C>T	NM_001257231.1	NP_001244160.1:p.(Arg721Cys)	NC_000023.10:g.110973649C>T	VUS	1 lab	98465b8470
11:1256646 MUC5B G>A	11	1256646	1256646	G	A	MUC5B	c.2880+3G>A	NM_002458.2	NP_002449.2:p.?	NC_000011.9:g.1256646G>A	(Likely) benign	1 lab	9847380559
X:135427882 ADGRG4 A>G	X	135427882	135427882	A	G	ADGRG4	c.2017A>G	NM_153834.3	NP_722576.3:p.(Ile673Val)	NC_000023.10:g.135427882A>G	VUS	1 lab	9848cc76ed
17:29554625 NF1 G>C	17	29554625	29554625	G	C	NF1	c.2409+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554625G>C	(Likely) pathogenic	1 lab	984a1f03b3
10:101645517 DNMBP A>C	10	101645517	101645517	A	C	DNMBP	c.3725T>G	NM_015221.4	NP_056036.1:p.(Leu1242Arg)	NC_000010.10:g.101645517A>C	VUS	1 lab	984e543046
X:153586585 FLNA C>G	X	153586585	153586585	C	G	FLNA	c.4737G>C	NM_001110556.2	NP_001104026.1:p.(Leu1579=)	NC_000023.10:g.153586585C>G	(Likely) benign	1 lab	984f99c1d5
17:1554850 PRPF8 A>G	17	1554850	1554850	A	G	PRPF8	c.6511-3T>C	NM_006445.3	NP_006436.3:p.?	NC_000017.10:g.1554850A>G	(Likely) benign	1 lab	98505b1e49
18:6943260 LAMA1 T>A	18	6943260	6943260	T	A	LAMA1	c.8986A>T	NM_005559.3	NP_005550.2:p.(Asn2996Tyr)	NC_000018.9:g.6943260T>A	(Likely) benign	1 lab	9853312497
1:234744273 IRF2BP2 C>T	1	234744273	234744273	C	T	IRF2BP2	c.968G>A	NM_182972.2	NP_892017.2:p.(Ser323Asn)	NC_000001.10:g.234744273C>T	(Likely) benign	1 lab	9853f6b7ea
8:2820046 CSMD1 G>A	8	2820046	2820046	G	A	CSMD1	c.9570C>T	NM_033225.6	NP_150094.5:p.(Ser3190=)	NC_000008.10:g.2820046G>A	(Likely) benign	1 lab	98551b0540
11:31804978 ELP4 G>C	11	31804978	31804978	G	C	ELP4	c.1323G>C	NM_001288725.1	NP_001275654.1:p.(Glu441Asp)	NC_000011.9:g.31804978G>C	(Likely) benign	1 lab	9855876027
3:9959671 IL17RC G>A	3	9959671	9959671	G	A	IL17RC	c.405G>A	NM_153461.3	NP_703191.1:p.(Thr135=)	NC_000003.11:g.9959671G>A	(Likely) benign	1 lab	9856333f96
1:158605757 SPTA1 C>T	1	158605757	158605757	C	T	SPTA1	c.5378G>A	NM_003126.3	NP_003117.2:p.(Arg1793Gln)	NC_000001.10:g.158605757C>T	(Likely) benign	1 lab	98579dc472
17:29557391 NF1 T>G	17	29557391	29557391	T	G	NF1	c.3104T>G	NM_000267.3	NP_000258.1:p.(Met1035Arg)	NC_000017.10:g.29557391T>G	(Likely) pathogenic	1 lab	ff43f5970a
5:108717291 PJA2 T>C	5	108717291	108717291	T	C	PJA2	c.145A>G	NM_014819.5	NP_055634.3:p.(Met49Val)	NC_000005.9:g.108717291T>C	VUS	1 lab	985a4bd06c
4:57798031 REST C>A	4	57798031	57798031	C	A	REST	c.3007C>A	NM_005612.4	NP_005603.3:p.(Gln1003Lys)	NC_000004.11:g.57798031C>A	VUS	1 lab	985d2030ea
7:100696635 MUC17 G>T	7	100696635	100696635	G	T	MUC17	c.13281G>T	NM_001040105.1	NP_001035194.1:p.(Leu4427Phe)	NC_000007.13:g.100696635G>T	(Likely) benign	1 lab	985e3f11ab
12:54676986 HNRNPA1 ACGGAGG>A	12	54676986	54677001	ACGGAGG	A	HNRNPA1	c.885_890del	NM_031157.4	NP_112420.1:p.(Gly296_Gly297del)	NC_000012.11:g.54676996_54677001del	(Likely) benign	1 lab	985e5744be
15:78486344 ACSBG1 G>T	15	78486344	78486344	G	T	ACSBG1	c.472C>A	NM_015162.5	NP_055977.3:p.(His158Asn)	NC_000015.9:g.78486344G>T	(Likely) benign	1 lab	985e967ad3
X:53581785 HUWE1 G>A	X	53581785	53581785	G	A	HUWE1	c.8303C>T	NM_031407.6	NP_113584.3:p.(Ser2768Leu)	NC_000023.10:g.53581785G>A	VUS	1 lab	985f3153d8
11:118963522 HMBS G>A	11	118963522	118963522	G	A	HMBS	c.825+1G>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118963522G>A	(Likely) pathogenic	1 lab	985f7de280
1:248737823 OR2T34 A>AG	1	248737823	248737825	A	AG	OR2T34	c.235dup	NM_001001821.1	NP_001001821.1:p.(Leu79ProfsTer17)	NC_000001.10:g.248737825dup	VUS	1 lab	985fd145ac
1:94520664 ABCA4 T>C	1	94520664	94520664	T	C	ABCA4	c.2587+3A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94520664T>C	(Likely) benign	1 lab	9860d5b423
6:7247076 RREB1 C>T	6	7247076	7247076	C	T	RREB1	c.4393C>T	NM_001003699.4	NP_001003699.1:p.(Arg1465Cys)	NC_000006.11:g.7247076C>T	VUS	1 lab	ff46d457b8
13:32968799 BRCA2 C>CAT	13	32968799	32968801	C	CAT	BRCA2	c.9257-26_9257-25dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968800_32968801dup	(Likely) benign	1 lab	9862b702c2
1:38095563 MISSING C>T	1	38095563	38095563	C	T	MISSING				NC_000001.10:g.38095563C>T	VUS	1 lab	98642f964b
14:21992326 SALL2 C>G	14	21992326	21992326	C	G	SALL2	c.1536G>C	NM_005407.2	NP_005398.2:p.(Val512=)	NC_000014.8:g.21992326C>G	(Likely) benign	1 lab	98643f6143
18:43502441 EPG5 A>G	18	43502441	43502441	A	G	EPG5	c.2964T>C	NM_020964.3	NP_066015.2:p.(Cys988=)	NC_000018.9:g.43502441A>G	(Likely) benign	1 lab	98643fc194
1:94486788 ABCA4 T>C	1	94486788	94486788	T	C	ABCA4	c.5018+8A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94486788T>C	(Likely) benign	1 lab	986620a593
5:14369479 TRIO A>T	5	14369479	14369479	A	T	TRIO	c.3067-4A>T	NM_007118.3	NP_009049.2:p.?	NC_000005.9:g.14369479A>T	(Likely) benign	1 lab	986635a67e
5:70900270 MCCC2 T>A	5	70900270	70900270	T	A	MCCC2	c.599T>A	NM_022132.4	NP_071415.1:p.(Ile200Asn)	NC_000005.9:g.70900270T>A	VUS	1 lab	9867e4c382
3:38163867 DLEC1 C>T	3	38163867	38163867	C	T	DLEC1	c.5108C>T	NM_007337.3	NP_031363.2:p.(Pro1703Leu)	NC_000003.11:g.38163867C>T	(Likely) benign	1 lab	98697f0cec
1:161736167 ATF6 G>T	1	161736167	161736167	G	T	ATF6	c.17G>T	NM_007348.3	NP_031374.2:p.(Gly6Val)	NC_000001.10:g.161736167G>T	(Likely) benign	1 lab	9869d83f56
22:50666407 TUBGCP6 G>A	22	50666407	50666407	G	A	TUBGCP6	c.1341C>T	NM_020461.3	NP_065194.2:p.(Val447=)	NC_000022.10:g.50666407G>A	(Likely) benign	1 lab	986a28f1a0
14:24709050 TINF2 T>C	14	24709050	24709050	T	C	TINF2	c.1309A>G	NM_001099274.1	NP_001092744.1:p.(Ile437Val)	NC_000014.8:g.24709050T>C	(Likely) benign	1 lab	986a3cf19f
9:35079212 FANCG CAG>C	9	35079212	35079216	CAG	C	FANCG	c.109_110del	NM_004629.2	NP_004620.1:p.(Leu37GlufsTer19)	NC_000009.11:g.35079215_35079216del	(Likely) pathogenic	1 lab	986cfb383b
1:201183311 IGFN1 T>C	1	201183311	201183311	T	C	IGFN1	c.8735T>C	NM_001164586.1	NP_001158058.1:p.(Met2912Thr)	NC_000001.10:g.201183311T>C	VUS	1 lab	986dfc6b01
4:55127413 PDGFRA C>T	4	55127413	55127413	C	T	PDGFRA	c.201C>T	NM_006206.4	NP_006197.1:p.(Ser67=)	NC_000004.11:g.55127413C>T	(Likely) benign	1 lab	986f4918e6
13:25486911 CPAP G>T	13	25486911	25486911	G	T	CPAP	c.253C>A	NM_018451.4	NP_060921.3:p.(Pro85Thr)	NC_000013.10:g.25486911G>T	(Likely) benign	1 lab	986f81495b
22:41911791 ACO2 G>A	22	41911791	41911791	G	A	ACO2	c.705G>A	NM_001098.2	NP_001089.1:p.(Thr235=)	NC_000022.10:g.41911791G>A	(Likely) benign	1 lab	98700af0ea
12:52467631 ATG101 G>C	12	52467631	52467631	G	C	ATG101	c.197G>C	NM_021934.4	NP_068753.2:p.(Arg66Pro)	NC_000012.11:g.52467631G>C	VUS	1 lab	9870b7ad9c
16:2126116 TSC2 G>A	16	2126116	2126116	G	A	TSC2	c.2687G>A	NM_000548.3	NP_000539.2:p.(Trp896Ter)	NC_000016.9:g.2126116G>A	(Likely) pathogenic	1 lab	9873987833
19:4117584 MAP2K2 G>C	19	4117584	4117584	G	C	MAP2K2	c.136C>G	NM_030662.3	NP_109587.1:p.(Leu46Val)	NC_000019.9:g.4117584G>C	VUS	1 lab	9874df06ac
19:30433486 URI1 A>G	19	30433486	30433486	A	G	URI1	c.32A>G	NM_003796.3	NP_003787.2:p.(Asp11Gly)	NC_000019.9:g.30433486A>G	(Likely) benign	1 lab	98778bbcc3
17:4925954 KIF1C G>A	17	4925954	4925954	G	A	KIF1C	c.2578G>A	NM_006612.5	NP_006603.2:p.(Ala860Thr)	NC_000017.10:g.4925954G>A	(Likely) benign	1 lab	98782b13ee
19:13002983 GCDH A>G	19	13002983	13002983	A	G	GCDH	c.325A>G	NM_000159.3	NP_000150.1:p.(Thr109Ala)	NC_000019.9:g.13002983A>G	VUS	1 lab	987968caf5
9:67968036 ANKRD20A1 A>G	9	67968036	67968036	A	G	ANKRD20A1	c.1595A>G	NM_032250.3	NP_115626.2:p.(Lys532Arg)	NC_000009.11:g.67968036A>G	(Likely) benign	1 lab	987a684589
17:66422253 PRKAR1A C>A	17	66422253	66422253	C	A	PRKAR1A	c.-7+12317C>A	NM_001278433.2	NP_001265362.1:p.?	NC_000017.10:g.66422253C>A	VUS	1 lab	ff4d862962
12:13768165 GRIN2B G>A	12	13768165	13768165	G	A	GRIN2B	c.1537C>T	NM_000834.4	NP_000825.2:p.(Leu513Phe)	NC_000012.11:g.13768165G>A	(Likely) pathogenic	1 lab	987b13feb8
8:87751911 CNGB3 C>T	8	87751911	87751911	C	T	CNGB3	c.183G>A	NM_019098.4	NP_061971.3:p.(Thr61=)	NC_000008.10:g.87751911C>T	(Likely) benign	1 lab	987c8d6be8
2:179486096 TTN C>T	2	179486096	179486096	C	T	TTN	c.45350-1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179486096C>T	(Likely) pathogenic	1 lab	987e6b3718
20:61048550 GATA5 T>C	20	61048550	61048550	T	C	GATA5	c.608A>G	NM_080473.4	NP_536721.1:p.(Asp203Gly)	NC_000020.10:g.61048550T>C	VUS	1 lab	987e8365c4
19:8657640 ADAMTS10 C>T	19	8657640	8657640	C	T	ADAMTS10	c.1587+7G>A	NM_030957.3	NP_112219.3:p.?	NC_000019.9:g.8657640C>T	(Likely) benign	1 lab	987efdbbee
20:62326197 RTEL1 G>A	20	62326197	62326197	G	A	RTEL1	c.3213G>A	NM_001283009.1	NP_001269938.1:p.(Leu1071=)	NC_000020.10:g.62326197G>A	(Likely) benign	1 lab	987f76f530
1:29529700 MECR G>A	1	29529700	29529700	G	A	MECR	c.368C>T	NM_001024732.3	NP_001019903.3:p.(Ala123Val)	NC_000001.10:g.29529700G>A	VUS	1 lab	987fe608c0
16:30080245 ALDOA C>G	16	30080245	30080245	C	G	ALDOA	c.648C>G	NM_001243177.1	NP_001230106.1:p.(Leu216=)	NC_000016.9:g.30080245C>G	(Likely) benign	1 lab	987ff90511
5:154292597 GEMIN5 CT>C	5	154292597	154292598	CT	C	GEMIN5	c.1856del	NM_015465.5	NP_056280.2:p.(Glu619GlyfsTer8)	NC_000005.9:g.154292598del	(Likely) pathogenic	1 lab	ff4e5a5cc0
11:2906614 CDKN1C G>T	11	2906614	2906614	G	T	CDKN1C	c.106C>A	NM_000076.2	NP_000067.1:p.(Pro36Thr)	NC_000011.9:g.2906614G>T	VUS	1 lab	988445cbbf
2:179500721 TTN G>GT	2	179500721	179500723	G	GT	TTN	c.41576dup	NM_001267550.2	NP_001254479.2:p.(Asn13859LysfsTer15)	NC_000002.11:g.179500723dup	(Likely) pathogenic	1 lab	ff50ca0d2b
7:100856190 PLOD3 T>C	7	100856190	100856190	T	C	PLOD3	c.812A>G	NM_001084.4	NP_001075.1:p.(Asn271Ser)	NC_000007.13:g.100856190T>C	(Likely) benign	1 lab	98853080bb
11:1267029 MUC5B C>G	11	1267029	1267029	C	G	MUC5B	c.8919C>G	NM_002458.2	NP_002449.2:p.(Ser2973Arg)	NC_000011.9:g.1267029C>G	(Likely) benign	1 lab	98860b5665
19:5896958 NDUFA11 G>C	19	5896958	5896958	G	C	NDUFA11	c.148C>G	NM_001193375.1	NP_001180304.1:p.(Leu50Val)	NC_000019.9:g.5896958G>C	(Likely) benign	1 lab	98861efbf9
18:44140244 LOXHD1 C>G	18	44140244	44140244	C	G	LOXHD1	c.2863G>C	NM_144612.6	NP_653213.6:p.(Glu955Gln)	NC_000018.9:g.44140244C>G	VUS	1 lab	9888f16378
X:115574014 SLC6A14 T>C	X	115574014	115574014	T	C	SLC6A14	c.506T>C	NM_007231.4	NP_009162.1:p.(Ile169Thr)	NC_000023.10:g.115574014T>C	VUS	1 lab	9889ea0c98
11:73879384 C2CD3 C>T	11	73879384	73879384	C	T	C2CD3	c.325+5G>A	NM_001286577.1	NP_001273506.1:p.?	NC_000011.9:g.73879384C>T	VUS	1 lab	988a9d424d
11:102992209 DYNC2H1 G>A	11	102992209	102992209	G	A	DYNC2H1	c.1469G>A	NM_001080463.1	NP_001073932.1:p.(Arg490His)	NC_000011.9:g.102992209G>A	VUS	1 lab	988c37086f
1:215987129 USH2A C>T	1	215987129	215987129	C	T	USH2A	c.9688G>A	NM_206933.2	NP_996816.2:p.(Ala3230Thr)	NC_000001.10:g.215987129C>T	(Likely) benign	1 lab	988c95d146
18:6999495 LAMA1 G>A	18	6999495	6999495	G	A	LAMA1	c.4612C>T	NM_005559.3	NP_005550.2:p.(Arg1538Trp)	NC_000018.9:g.6999495G>A	(Likely) benign	1 lab	988d35259f
X:30322699 NR0B1 T>C	X	30322699	30322699	T	C	NR0B1	c.1410A>G	NM_000475.4	NP_000466.2:p.(Ile470Met)	NC_000023.10:g.30322699T>C	(Likely) benign	1 lab	988d92d58b
9:123716124 C5 G>A	9	123716124	123716124	G	A	C5	c.4785C>T	NM_001735.2	NP_001726.2:p.(Asp1595=)	NC_000009.11:g.123716124G>A	(Likely) benign	1 lab	988e5034ce
3:93761891 ARL13B C>A	3	93761891	93761891	C	A	ARL13B	c.831C>A	NM_001174150.1	NP_001167621.1:p.(Asn277Lys)	NC_000003.11:g.93761891C>A	(Likely) benign	1 lab	988ffbc785
19:42792068 CIC G>A	19	42792068	42792068	G	A	CIC	c.872G>A	NM_015125.5	NP_055940.3:p.(Gly291Glu)	NC_000019.9:g.42792068G>A	VUS	1 lab	ff51a59e87
12:124158198 TCTN2 C>A	12	124158198	124158198	C	A	TCTN2	c.304C>A	NM_024809.4	NP_079085.2:p.(Leu102Met)	NC_000012.11:g.124158198C>A	VUS	1 lab	9893de5c8c
10:102775472 PDZD7 C>T	10	102775472	102775472	C	T	PDZD7	c.1670G>A	NM_001195263.1	NP_001182192.1:p.(Arg557Gln)	NC_000010.10:g.102775472C>T	VUS	1 lab	9893e59c4e
10:73567094 CDH23 G>A	10	73567094	73567094	G	A	CDH23	c.8239G>A	NM_022124.5	NP_071407.4:p.(Val2747Met)	NC_000010.10:g.73567094G>A	VUS	1 lab	9894422e9b
2:8928779 KIDINS220 C>T	2	8928779	8928779	C	T	KIDINS220	c.1785G>A	NM_001348738.1	NP_001335667.1:p.(Val595=)	NC_000002.11:g.8928779C>T	VUS	1 lab	9894db8a01
13:110817208 COL4A1 C>T	13	110817208	110817208	C	T	COL4A1	c.4150+1G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110817208C>T	(Likely) pathogenic	1 lab	98950f301d
15:57524633 TCF12 G>T	15	57524633	57524633	G	T	TCF12	c.825+5G>T	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57524633G>T	VUS	1 lab	998b2da10b
7:117267765 CFTR AC>A	7	117267765	117267766	AC	A	CFTR	c.3659del	NM_000492.4	NP_000483.3:p.(Thr1220LysfsTer8)	NC_000007.13:g.117267766del	(Likely) pathogenic	1 lab	98954d5b55
5:1394869 SLC6A3 C>T	5	1394869	1394869	C	T	SLC6A3	c.1844G>A	NM_001044.4	NP_001035.1:p.(Arg615His)	NC_000005.9:g.1394869C>T	(Likely) benign	1 lab	9896f2c6b4
6:24806615 RIPOR2 C>T	6	24806615	24806615	C	T	RIPOR2	c.3193G>A	NM_014722.4	NP_055537.2:p.(Ala1065Thr)	NC_000006.11:g.24806615C>T	VUS	1 lab	9898c2d18f
7:103006530 PSMC2 G>A	7	103006530	103006530	G	A	PSMC2	c.764G>A	NM_002803.4	NP_002794.1:p.(Arg255Gln)	NC_000007.13:g.103006530G>A	VUS	1 lab	9898ccf286
17:80828248 TBCD A>G	17	80828248	80828248	A	G	TBCD	c.1467A>G	NM_005993.4	NP_005984.3:p.(Ala489=)	NC_000017.10:g.80828248A>G	(Likely) benign	1 lab	989b56ff6e
X:152959027 SLC6A8 A>G	X	152959027	152959027	A	G	SLC6A8	c.1127A>G	NM_005629.3	NP_005620.1:p.(Lys376Arg)	NC_000023.10:g.152959027A>G	(Likely) benign	1 lab	989c91082f
12:49435324 KMT2D G>C	12	49435324	49435324	G	C	KMT2D	c.6235-6C>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49435324G>C	(Likely) benign	1 lab	ff53333f23
12:667181 B4GALNT3 G>A	12	667181	667181	G	A	B4GALNT3	c.2535-1G>A	NM_173593.3	NP_775864.3:p.?	NC_000012.11:g.667181G>A	VUS	1 lab	989ec7f09a
X:135829739 ARHGEF6 C>G	X	135829739	135829739	C	G	ARHGEF6	c.262G>C	NM_004840.3	NP_004831.1:p.(Asp88His)	NC_000023.10:g.135829739C>G	(Likely) benign	1 lab	ff55023dd7
16:27786413 KATNIP C>T	16	27786413	27786413	C	T	KATNIP	c.4449+8C>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27786413C>T	(Likely) benign	1 lab	98a0239086
4:628579 PDE6B C>T	4	628579	628579	C	T	PDE6B	c.582C>T	NM_000283.3	NP_000274.2:p.(Asn194=)	NC_000004.11:g.628579C>T	(Likely) benign	1 lab	98a1d17ee6
22:21213391 SNAP29 C>G	22	21213391	21213391	C	G	SNAP29	c.-8C>G	NM_004782.3	NP_004773.1:p.?	NC_000022.10:g.21213391C>G	(Likely) benign	1 lab	98a21b270c
8:48848955 PRKDC G>A	8	48848955	48848955	G	A	PRKDC	c.1236C>T	NM_006904.6	NP_008835.5:p.(Ser412=)	NC_000008.10:g.48848955G>A	(Likely) benign	1 lab	98a23e37cb
X:54836484 MAGED2 G>A	X	54836484	54836484	G	A	MAGED2	c.375G>A	NM_177433.2	NP_803182.1:p.(Lys125=)	NC_000023.10:g.54836484G>A	(Likely) benign	1 lab	98a23e817c
3:10188351 VHL GGTT>G	3	10188351	10188359	GGTT	G	VHL	c.463+37_463+39del	NM_000551.4	NP_000542.1:p.?	NC_000003.11:g.10188357_10188359del	(Likely) benign	1 lab	98a38bf8e5
17:6373670 PITPNM3 G>A	17	6373670	6373670	G	A	PITPNM3	c.1683C>T	NM_031220.3	NP_112497.2:p.(Val561=)	NC_000017.10:g.6373670G>A	(Likely) benign	1 lab	98a6203284
X:69902649 TEX11 G>T	X	69902649	69902649	G	T	TEX11	c.1076C>A	NM_001003811.1	NP_001003811.1:p.(Thr359Lys)	NC_000023.10:g.69902649G>T	(Likely) benign	1 lab	98a72a3419
20:32341041 ZNF341 C>T	20	32341041	32341041	C	T	ZNF341	c.553C>T	NM_001282933.1	NP_001269862.1:p.(Pro185Ser)	NC_000020.10:g.32341041C>T	(Likely) benign	1 lab	98a8842277
2:88926725 EIF2AK3 A>C	2	88926725	88926725	A	C	EIF2AK3	c.68T>G	NM_004836.6	NP_004827.4:p.(Leu23Arg)	NC_000002.11:g.88926725A>C	VUS	1 lab	98a9be580f
17:76565497 DNAH17 G>A	17	76565497	76565497	G	A	DNAH17	c.1157C>T	NM_173628.3	NP_775899.3:p.(Thr386Met)	NC_000017.10:g.76565497G>A	(Likely) benign	1 lab	98a9f3d78e
17:41267722 BRCA1 A>G	17	41267722	41267722	A	G	BRCA1	c.134+21T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267722A>G	(Likely) benign	1 lab	98aabbfab8
1:5947524 NPHP4 A>G	1	5947524	5947524	A	G	NPHP4	c.2307T>C	NM_015102.4	NP_055917.1:p.(His769=)	NC_000001.10:g.5947524A>G	(Likely) benign	1 lab	98ae0e155b
2:171699100 GAD1 T>A	2	171699100	171699100	T	A	GAD1	c.660T>A	NM_013445.3	NP_038473.2:p.(Cys220Ter)	NC_000002.11:g.171699100T>A	(Likely) pathogenic	1 lab	98ae512eac
18:21124916 NPC1 C>G	18	21124916	21124916	C	G	NPC1	c.1947+8G>C	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21124916C>G	(Likely) benign	1 lab	98ae5e7fcc
7:150878106 ASB10 G>A	7	150878106	150878106	G	A	ASB10	c.1024C>T	NM_001142460.1	NP_001135932.2:p.(Leu342=)	NC_000007.13:g.150878106G>A	(Likely) benign	1 lab	98b01fffb9
17:5424242 NLRP1 C>T	17	5424242	5424242	C	T	NLRP1	c.3874G>A	NM_033004.4	NP_127497.1:p.(Val1292Met)	NC_000017.10:g.5424242C>T	VUS	1 lab	ff63d86e43
11:26655788 ANO3 C>T	11	26655788	26655788	C	T	ANO3	c.2094C>T	NM_001313726.1	NP_001300655.1:p.(Phe698=)	NC_000011.9:g.26655788C>T	(Likely) benign	1 lab	98b46ecd5f
18:56940300 RAX T>A	18	56940300	56940300	T	A	RAX	c.139A>T	NM_013435.2	NP_038463.2:p.(Ile47Phe)	NC_000018.9:g.56940300T>A	VUS	1 lab	98b5e916a5
12:132395279 MISSING G>A	12	132395279	132395279	G	A	MISSING				NC_000012.11:g.132395279G>A	(Likely) benign	1 lab	e7db045d92
3:47045735 NBEAL2 C>T	3	47045735	47045735	C	T	NBEAL2	c.6050C>T	NM_015175.2	NP_055990.1:p.(Thr2017Ile)	NC_000003.11:g.47045735C>T	(Likely) benign	1 lab	98b7077db5
2:98810857 VWA3B G>T	2	98810857	98810857	G	T	VWA3B	c.1639G>T	NM_144992.4	NP_659429.4:p.(Val547Leu)	NC_000002.11:g.98810857G>T	VUS	1 lab	98b7380654
17:40695468 NAGLU C>T	17	40695468	40695468	C	T	NAGLU	c.1444C>T	NM_000263.3	NP_000254.2:p.(Arg482Trp)	NC_000017.10:g.40695468C>T	(Likely) pathogenic	1 lab	98b79d7514
22:45938082 FBLN1 C>T	22	45938082	45938082	C	T	FBLN1	c.1114C>T	NM_006486.2	NP_006477.2:p.(Arg372Cys)	NC_000022.10:g.45938082C>T	(Likely) benign	1 lab	98b8518d59
11:76910768 MYO7A A>G	11	76910768	76910768	A	G	MYO7A	c.4757A>G	NM_000260.3	NP_000251.3:p.(Asn1586Ser)	NC_000011.9:g.76910768A>G	VUS	1 lab	98bbdfb05c
4:183550026 TENM3 C>G	4	183550026	183550026	C	G	TENM3	c.972C>G	NM_001080477.3	NP_001073946.1:p.(Leu324=)	NC_000004.11:g.183550026C>G	(Likely) benign	1 lab	98be5d623d
3:46717117 ALS2CL G>C	3	46717117	46717117	G	C	ALS2CL	c.2246C>G	NM_001190707.1	NP_001177636.1:p.(Thr749Arg)	NC_000003.11:g.46717117G>C	(Likely) benign	1 lab	98bec3bfb4
16:85697120 GSE1 C>T	16	85697120	85697120	C	T	GSE1	c.2544C>T	NM_014615.4	NP_055430.1:p.(Arg848=)	NC_000016.9:g.85697120C>T	(Likely) benign	1 lab	98bf19a616
19:46272022 SIX5 C>T	19	46272022	46272022	C	T	SIX5	c.81G>A	NM_175875.4	NP_787071.2:p.(Glu27=)	NC_000019.9:g.46272022C>T	(Likely) benign	1 lab	98bfb3201c
X:17743792 NHS C>T	X	17743792	17743792	C	T	NHS	c.1566C>T	NM_001291867.1	NP_001278796.1:p.(Gly522=)	NC_000023.10:g.17743792C>T	(Likely) benign	1 lab	98c26209fc
1:43890004 SZT2 G>A	1	43890004	43890004	G	A	SZT2	c.2372G>A	NM_001365999.1	NP_001352928.1:p.(Arg791His)	NC_000001.10:g.43890004G>A	VUS	1 lab	98c33f482d
1:981852 AGRN C>A	1	981852	981852	C	A	AGRN	c.2672C>A	NM_001364727.1	NP_001351656.1:p.(Ala891Glu)	NC_000001.10:g.981852C>A	VUS	1 lab	98c566ed70
19:4550899 SEMA6B C>T	19	4550899	4550899	C	T	SEMA6B	c.1033G>A	NM_032108.4	NP_115484.2:p.(Ala345Thr)	NC_000019.9:g.4550899C>T	VUS	1 lab	ff68c3ca31
1:207646923 CR2 G>A	1	207646923	207646923	G	A	CR2	c.2012G>A	NM_001006658.3	NP_001006659.1:p.(Arg671His)	NC_000001.10:g.207646923G>A	(Likely) benign	1 lab	ff6939aeec
22:24730587 SPECC1L C>T	22	24730587	24730587	C	T	SPECC1L	c.2560+46C>T	NM_015330.4	NP_056145.4:p.?	NC_000022.10:g.24730587C>T	(Likely) benign	1 lab	98c7bcda0e
19:54631726 PRPF31 C>T	19	54631726	54631726	C	T	PRPF31	c.1120C>T	NM_015629.3	NP_056444.3:p.(Gln374Ter)	NC_000019.9:g.54631726C>T	(Likely) pathogenic	1 lab	98c7fb4ef8
17:33498466 UNC45B C>T	17	33498466	33498466	C	T	UNC45B	c.1815C>T	NM_001033576.1	NP_001028748.1:p.(Pro605=)	NC_000017.10:g.33498466C>T	(Likely) benign	1 lab	98c932b8e5
14:53619480 DDHD1 T>TGCCGCCGCCGCCGCC	14	53619480	53619495	T	TGCCGCCGCCGCCGCC	DDHD1	c.336_337insGGCGGCGGCGGCGGC	NM_001160148.1	NP_001153620.1:p.(Gly112_Ser113insGlyGlyGlyGlyGly)	NC_000014.8:g.53619494_53619495insCGCCGCCGCCGCCGC	VUS	1 lab	98c9f6409c
15:49083415 CEP152 C>T	15	49083415	49083415	C	T	CEP152	c.972+19G>A	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49083415C>T	(Likely) benign	1 lab	98ca418a3e
6:33281194 TAPBP T>C	6	33281194	33281194	T	C	TAPBP	c.269A>G	NM_003190.4	NP_003181.3:p.(His90Arg)	NC_000006.11:g.33281194T>C	(Likely) benign	1 lab	98cad461b5
4:3502427 DOK7 G>A	4	3502427	3502427	G	A	DOK7	c.1702G>A	NM_001301071.1	NP_001288000.1:p.(Ala568Thr)	NC_000004.11:g.3502427G>A	(Likely) benign	1 lab	98cb5079c1
16:55853491 CES1 G>A	16	55853491	55853491	G	A	CES1	c.862C>T	NM_001025195.1	NP_001020366.1:p.(Arg288Ter)	NC_000016.9:g.55853491G>A	VUS	1 lab	98cb573626
3:4722326 ITPR1 A>G	3	4722326	4722326	A	G	ITPR1	c.3012A>G	NM_001168272.1	NP_001161744.1:p.(Ser1004=)	NC_000003.11:g.4722326A>G	(Likely) benign	1 lab	98cbac8c2b
1:11850948 MTHFR G>T	1	11850948	11850948	G	T	MTHFR	c.1883C>A	NM_001330358.1	NP_001317287.1:p.(Ala628Asp)	NC_000001.10:g.11850948G>T	VUS	1 lab	98cbee066a
2:48036361 FBXO11 T>C	2	48036361	48036361	T	C	FBXO11	c.2491A>G	NM_001190274.1	NP_001177203.1:p.(Ser831Gly)	NC_000002.11:g.48036361T>C	(Likely) benign	1 lab	98cc0e3385
17:79478425 ACTG1 G>C	17	79478425	79478425	G	C	ACTG1	c.591C>G	NM_001199954.2	NP_001186883.1:p.(Gly197=)	NC_000017.10:g.79478425G>C	(Likely) benign	1 lab	98cd2bf287
1:100357294 AGL A>G	1	100357294	100357294	A	G	AGL	c.3082A>G	NM_000028.2	NP_000019.2:p.(Ser1028Gly)	NC_000001.10:g.100357294A>G	VUS	1 lab	98cd32bf25
19:16593466 CALR3 C>T	19	16593466	16593466	C	T	CALR3	c.786+23G>A	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16593466C>T	(Likely) benign	1 lab	98cf22dec6
12:49433866 KMT2D T>G	12	49433866	49433866	T	G	KMT2D	c.7687A>C	NM_003482.4	NP_003473.3:p.(Asn2563His)	NC_000012.11:g.49433866T>G	VUS	1 lab	ff6da757e4
10:135184107 ECHS1 G>A	10	135184107	135184107	G	A	ECHS1	c.243C>T	NM_004092.3	NP_004083.3:p.(Ala81=)	NC_000010.10:g.135184107G>A	(Likely) benign	1 lab	98d22a6721
1:36367545 AGO1 G>T	1	36367545	36367545	G	T	AGO1	c.1141-4G>T	NM_012199.5	NP_036331.1:p.?	NC_000001.10:g.36367545G>T	(Likely) benign	1 lab	ff70359488
X:5810899 NLGN4X T>A	X	5810899	5810899	T	A	NLGN4X	c.2410A>T	NM_001282145.1	NP_001269074.1:p.(Ser804Cys)	NC_000023.10:g.5810899T>A	VUS	1 lab	98d41871bd
9:101908788 TGFBR1 C>T	9	101908788	101908788	C	T	TGFBR1	c.1152C>T	NM_004612.3	NP_004603.1:p.(Leu384=)	NC_000009.11:g.101908788C>T	(Likely) benign	1 lab	98d4e23bcb
19:46032564 OPA3 A>G	19	46032564	46032564	A	G	OPA3	c.293T>C	NM_001017989.3	NP_001017989.2:p.(Met98Thr)	NC_000019.9:g.46032564A>G	VUS	1 lab	ff75a96dab
7:151945126 KMT2C T>C	7	151945126	151945126	T	C	KMT2C	c.2393A>G	NM_170606.3	NP_733751.2:p.(His798Arg)	NC_000007.13:g.151945126T>C	VUS	1 lab	ff7a84e8a0
4:183600886 TENM3 C>T	4	183600886	183600886	C	T	TENM3	c.1394C>T	NM_001080477.3	NP_001073946.1:p.(Thr465Met)	NC_000004.11:g.183600886C>T	VUS	1 lab	98d88f5d3a
9:79968321 VPS13A C>A	9	79968321	79968321	C	A	VPS13A	c.7420-4C>A	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79968321C>A	(Likely) benign	1 lab	98d91135fa
16:78198150 WWOX G>A	16	78198150	78198150	G	A	WWOX	c.480G>A	NM_016373.3	NP_057457.1:p.(Arg160=)	NC_000016.9:g.78198150G>A	(Likely) benign	1 lab	98d9c1fad2
6:131900351 ARG1 C>T	6	131900351	131900351	C	T	ARG1	c.255C>T	NM_001244438.1	NP_001231367.1:p.(Ser85=)	NC_000006.11:g.131900351C>T	(Likely) benign	1 lab	98da101297
18:6949202 LAMA1 A>G	18	6949202	6949202	A	G	LAMA1	c.8454T>C	NM_005559.3	NP_005550.2:p.(Ser2818=)	NC_000018.9:g.6949202A>G	(Likely) benign	1 lab	98dc97bf21
11:44297097 ALX4 C>T	11	44297097	44297097	C	T	ALX4	c.578G>A	NM_021926.4	NP_068745.2:p.(Arg193Gln)	NC_000011.9:g.44297097C>T	VUS	1 lab	98df6abb29
21:47746483 PCNT G>C	21	47746483	47746483	G	C	PCNT	c.247G>C	NM_006031.5	NP_006022.3:p.(Gly83Arg)	NC_000021.8:g.47746483G>C	(Likely) benign	1 lab	98df8ce70b
3:52485872 TNNC1 T>C	3	52485872	52485872	T	C	TNNC1	c.205A>G	NM_003280.2	NP_003271.1:p.(Ser69Gly)	NC_000003.11:g.52485872T>C	VUS	1 lab	98e09959ea
7:82580708 PCLO C>T	7	82580708	82580708	C	T	PCLO	c.9196G>A	NM_033026.5	NP_149015.2:p.(Ala3066Thr)	NC_000007.13:g.82580708C>T	VUS	1 lab	98e33632e4
17:29508712 NF1 G>A	17	29508712	29508712	G	A	NF1	c.655-16G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508712G>A	(Likely) benign	1 lab	98e372fef2
2:32689838 BIRC6 C>G	2	32689838	32689838	C	G	BIRC6	c.5203C>G	NM_016252.3	NP_057336.3:p.(Pro1735Ala)	NC_000002.11:g.32689838C>G	(Likely) benign	1 lab	98e37fe8db
13:33635666 KL A>G	13	33635666	33635666	A	G	KL	c.2450A>G	NM_004795.3	NP_004786.2:p.(Glu817Gly)	NC_000013.10:g.33635666A>G	(Likely) benign	1 lab	98e41a7a0f
X:100662869 GLA A>T	X	100662869	100662869	A	T	GLA	c.23T>A	NM_000169.2	NP_000160.1:p.(Leu8Gln)	NC_000023.10:g.100662869A>T	(Likely) benign	1 lab	98e5480c02
16:2124366 TSC2 G>A	16	2124366	2124366	G	A	TSC2	c.2521G>A	NM_000548.3	NP_000539.2:p.(Val841Ile)	NC_000016.9:g.2124366G>A	(Likely) benign	1 lab	98e55c5ea4
4:3231679 HTT A>C	4	3231679	3231679	A	C	HTT	c.8181A>C	NM_002111.8	NP_002102.4:p.(Thr2727=)	NC_000004.11:g.3231679A>C	(Likely) benign	1 lab	98e5dc0e09
17:1637375 WDR81 G>A	17	1637375	1637375	G	A	WDR81	c.5044G>A	NM_001163809.1	NP_001157281.1:p.(Asp1682Asn)	NC_000017.10:g.1637375G>A	VUS	1 lab	98e7845799
7:44294176 CAMK2B A>T	7	44294176	44294176	A	T	CAMK2B	c.306T>A	NM_001220.4	NP_001211.3:p.(Ile102=)	NC_000007.13:g.44294176A>T	VUS	1 lab	98e95ca5cb
3:98519494 DCBLD2 C>T	3	98519494	98519494	C	T	DCBLD2	c.1787G>A	NM_080927.4	NP_563615.3:p.(Arg596His)	NC_000003.11:g.98519494C>T	VUS	1 lab	98ea6e0bd5
2:202501540 TMEM237 T>A	2	202501540	202501540	T	A	TMEM237	c.181A>T	NM_152388.3	NP_689601.2:p.(Thr61Ser)	NC_000002.11:g.202501540T>A	(Likely) benign	1 lab	98ec4c0010
11:66466931 SPTBN2 T>C	11	66466931	66466931	T	C	SPTBN2	c.3722A>G	NM_006946.3	NP_008877.1:p.(Glu1241Gly)	NC_000011.9:g.66466931T>C	(Likely) benign	1 lab	98ec89310b
7:42079851 GLI3 C>CA	7	42079851	42079857	C	CA	GLI3	c.827-14dup	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42079857dup	(Likely) benign	1 lab	98f0c9a9c7
7:2962848 CARD11 G>A	7	2962848	2962848	G	A	CARD11	c.2060C>T	NM_001324281.1	NP_001311210.1:p.(Ala687Val)	NC_000007.13:g.2962848G>A	(Likely) benign	1 lab	98f104ef81
2:74648929 WDR54 G>A	2	74648929	74648929	G	A	WDR54	c.52G>A	NM_001320825.1	NP_001307754.1:p.(Asp18Asn)	NC_000002.11:g.74648929G>A	(Likely) benign	1 lab	98f1c57144
1:100350017 AGL T>C	1	100350017	100350017	T	C	AGL	c.2546+10T>C	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100350017T>C	(Likely) benign	1 lab	98f201cef1
1:183206621 LAMC2 T>C	1	183206621	183206621	T	C	LAMC2	c.2736T>C	NM_005562.2	NP_005553.2:p.(Asn912=)	NC_000001.10:g.183206621T>C	(Likely) benign	1 lab	98f2626d18
2:215843564 ABCA12 G>A	2	215843564	215843564	G	A	ABCA12	c.4941C>T	NM_173076.2	NP_775099.2:p.(Ile1647=)	NC_000002.11:g.215843564G>A	(Likely) benign	1 lab	98f355f2d3
2:121736069 GLI2 C>T	2	121736069	121736069	C	T	GLI2	c.1428C>T	NM_005270.4	NP_005261.2:p.(Ala476=)	NC_000002.11:g.121736069C>T	(Likely) benign	1 lab	98f3640021
17:7606714 WRAP53 TG>T	17	7606714	7606721	TG	T	WRAP53	c.1564del	NM_001143992.2	NP_001137464.1:p.(Ala522ArgfsTer26)	NC_000017.10:g.7606721del	(Likely) pathogenic	1 lab	98f3db3ad9
10:119302937 EMX2 GGCCGCC>G	10	119302937	119302956	GGCCGCC	G	EMX2	c.173_178del	NM_004098.4	NP_004089.1:p.(Ala58_Ala59del)	NC_000010.10:g.119302951_119302956del	(Likely) benign	1 lab	ff7d55622c
5:145252471 GRXCR2 A>G	5	145252471	145252471	A	G	GRXCR2	c.61T>C	NM_001080516.1	NP_001073985.1:p.(Phe21Leu)	NC_000005.9:g.145252471A>G	VUS	1 lab	98f48795ee
11:67938563 KMT5B G>C	11	67938563	67938563	G	C	KMT5B	c.896C>G	NM_017635.5	NP_060105.3:p.(Pro299Arg)	NC_000011.9:g.67938563G>C	VUS	1 lab	ff80b44fc6
2:238274605 COL6A3 G>A	2	238274605	238274605	G	A	COL6A3	c.5574C>T	NM_004369.3	NP_004360.2:p.(Phe1858=)	NC_000002.11:g.238274605G>A	(Likely) benign	1 lab	98f938666e
2:32768586 BIRC6 A>G	2	32768586	32768586	A	G	BIRC6	c.12570A>G	NM_016252.3	NP_057336.3:p.(Gly4190=)	NC_000002.11:g.32768586A>G	(Likely) benign	1 lab	98fd8dfe55
11:67759235 UNC93B1 G>A	11	67759235	67759235	G	A	UNC93B1	c.1576C>T	NM_030930.2	NP_112192.2:p.(Gln526Ter)	NC_000011.9:g.67759235G>A	VUS	1 lab	98fe918ea2
15:89870555 POLG C>T	15	89870555	89870555	C	T	POLG	c.1276G>A	NM_002693.2	NP_002684.1:p.(Gly426Ser)	NC_000015.9:g.89870555C>T	(Likely) pathogenic	1 lab	98fe9232bc
12:53708092 AAAS A>G	12	53708092	53708092	A	G	AAAS	c.679T>C	NM_015665.5	NP_056480.1:p.(Leu227=)	NC_000012.11:g.53708092A>G	(Likely) benign	1 lab	98fecc66cb
10:69881285 MYPN TGA>T	10	69881285	69881290	TGA	T	MYPN	c.94_95del	NM_032578.4	NP_115967.2:p.(Arg32GlufsTer20)	NC_000010.10:g.69881289_69881290del	(Likely) pathogenic	1 lab	990017d81f
5:134678928 PITX1-AS1 C>T	5	134678928	134678928	C	T	PITX1-AS1	c.210C>T	NM_001277348.1	NP_001264277.1:p.(Tyr70=)	NC_000005.9:g.134678928C>T	(Likely) benign	1 lab	990062335d
2:170050321 LRP2 C>T	2	170050321	170050321	C	T	LRP2	c.8780G>A	NM_004525.3	NP_004516.2:p.(Gly2927Asp)	NC_000002.11:g.170050321C>T	VUS	1 lab	9901a4879b
X:147018983 FMR1 A>G	X	147018983	147018983	A	G	FMR1	c.991-2A>G	NM_002024.5	NP_002015.1:p.?	NC_000023.10:g.147018983A>G	VUS	1 lab	9901eb2a24
1:22173860 HSPG2 G>T	1	22173860	22173860	G	T	HSPG2	c.8154C>A	NM_001291860.1	NP_001278789.1:p.(Ala2718=)	NC_000001.10:g.22173860G>T	(Likely) benign	1 lab	99024f6c46
12:8991706 A2ML1 C>T	12	8991706	8991706	C	T	A2ML1	c.971-3C>T	NM_144670.5	NP_653271.2:p.?	NC_000012.11:g.8991706C>T	(Likely) benign	1 lab	99039b2423
X:47078061 CDK16 G>C	X	47078061	47078061	G	C	CDK16	c.10G>C	NM_033018.3	NP_148978.2:p.(Glu4Gln)	NC_000023.10:g.47078061G>C	(Likely) benign	1 lab	9903d94fd7
17:41245007 BRCA1 C>T	17	41245007	41245007	C	T	BRCA1	c.2541G>A	NM_007294.4	NP_009225.1:p.(Met847Ile)	NC_000017.10:g.41245007C>T	VUS	1 lab	ff81adbd63
9:14806833 FREM1 C>T	9	14806833	14806833	C	T	FREM1	c.3100G>A	NM_144966.5	NP_659403.4:p.(Val1034Ile)	NC_000009.11:g.14806833C>T	(Likely) benign	1 lab	99081535a7
11:17594715 OTOG A>G	11	17594715	17594715	A	G	OTOG	c.2207A>G	NM_001277269.1	NP_001264198.1:p.(Gln736Arg)	NC_000011.9:g.17594715A>G	VUS	1 lab	99085a8e69
9:135205882 SETX G>C	9	135205882	135205882	G	C	SETX	c.1103C>G	NM_015046.5	NP_055861.3:p.(Ser368Cys)	NC_000009.11:g.135205882G>C	VUS	1 lab	9909a2c2ad
20:18505278 SEC23B C>T	20	18505278	18505278	C	T	SEC23B	c.568C>T	NM_032985.5	NP_116780.1:p.(Arg190Ter)	NC_000020.10:g.18505278C>T	(Likely) pathogenic	1 lab	9909cb96b3
1:11293200 MTOR C>T	1	11293200	11293200	C	T	MTOR	c.2421+255G>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11293200C>T	(Likely) benign	1 lab	9909f1d300
2:179498577 TTN C>A	2	179498577	179498577	C	A	TTN	c.42649G>T	NM_001267550.1	NP_001254479.1:p.(Glu14217Ter)	NC_000002.11:g.179498577C>A	(Likely) pathogenic	1 lab	990a01067c
16:90002176 TUBB3 C>T	16	90002176	90002176	C	T	TUBB3	c.1317C>T	NM_006086.4	NP_006077.2:p.(Asp439=)	NC_000016.9:g.90002176C>T	(Likely) benign	1 lab	990a30dc99
14:64587711 SYNE2 T>A	14	64587711	64587711	T	A	SYNE2	c.13090T>A	NM_182914.2	NP_878918.2:p.(Ser4364Thr)	NC_000014.8:g.64587711T>A	(Likely) benign	1 lab	990ab2a7fa
1:204957932 NFASC A>G	1	204957932	204957932	A	G	NFASC	c.2765A>G	NM_001005388.2	NP_001005388.2:p.(Glu922Gly)	NC_000001.10:g.204957932A>G	VUS	1 lab	990c3574b8
X:32490418 DMD T>G	X	32490418	32490418	T	G	DMD	c.2443A>C	NM_004010.3	NP_004001.1:p.(Thr815Pro)	NC_000023.10:g.32490418T>G	(Likely) benign	1 lab	990f7a4e2a
18:67863711 RTTN G>A	18	67863711	67863711	G	A	RTTN	c.841+26C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67863711G>A	(Likely) benign	1 lab	9912754d7b
16:3900951 CREBBP C>G	16	3900951	3900951	C	G	CREBBP	c.145G>C	NM_004380.2	NP_004371.2:p.(Gly49Arg)	NC_000016.9:g.3900951C>G	VUS	1 lab	9912a557a5
6:11134767 SMIM13 C>A	6	11134767	11134767	C	A	SMIM13	c.208C>A	NM_001135575.2	NP_001129047.1:p.(Pro70Thr)	NC_000006.11:g.11134767C>A	(Likely) benign	1 lab	991369d879
13:36900787 SPART A>G	13	36900787	36900787	A	G	SPART	c.1213T>C	NM_001142296.1	NP_001135768.1:p.(Cys405Arg)	NC_000013.10:g.36900787A>G	(Likely) benign	1 lab	99146da683
X:30739028 GK G>A	X	30739028	30739028	G	A	GK	c.1417G>A	NM_001205019.1	NP_001191948.1:p.(Glu473Lys)	NC_000023.10:g.30739028G>A	(Likely) benign	1 lab	9914e843e8
15:34016315 RYR3 G>A	15	34016315	34016315	G	A	RYR3	c.6850G>A	NM_001036.4	NP_001027.3:p.(Ala2284Thr)	NC_000015.9:g.34016315G>A	VUS	1 lab	9916478ec7
17:17697850 RAI1 C>T	17	17697850	17697850	C	T	RAI1	c.1588C>T	NM_030665.3	NP_109590.3:p.(Leu530Phe)	NC_000017.10:g.17697850C>T	VUS	1 lab	9916a82038
1:155209765 GBA1 A>G	1	155209765	155209765	A	G	GBA1	c.219T>C	NM_001005741.2	NP_001005741.1:p.(Leu73=)	NC_000001.10:g.155209765A>G	(Likely) benign	1 lab	9916c6ff51
13:25481027 CPAP A>C	13	25481027	25481027	A	C	CPAP	c.1149T>G	NM_018451.4	NP_060921.3:p.(Ala383=)	NC_000013.10:g.25481027A>C	(Likely) benign	1 lab	9919a15a5b
7:43484148 HECW1 C>G	7	43484148	43484148	C	G	HECW1	c.1377C>G	NM_015052.5	NP_055867.3:p.(Ala459=)	NC_000007.13:g.43484148C>G	(Likely) benign	1 lab	991a832815
19:22154421 ZNF208 T>C	19	22154421	22154421	T	C	ZNF208	c.3415A>G	NM_007153.3	NP_009084.2:p.(Lys1139Glu)	NC_000019.9:g.22154421T>C	VUS	1 lab	991abf081e
5:68715716 MARVELD2 A>G	5	68715716	68715716	A	G	MARVELD2	c.504A>G	NM_001038603.2	NP_001033692.2:p.(Thr168=)	NC_000005.9:g.68715716A>G	(Likely) benign	1 lab	991b294aea
X:153224125 HCFC1 C>T	X	153224125	153224125	C	T	HCFC1	c.1698G>A	NM_005334.2	NP_005325.2:p.(Thr566=)	NC_000023.10:g.153224125C>T	(Likely) benign	1 lab	991d59b686
10:101640015 DNMBP G>A	10	101640015	101640015	G	A	DNMBP	c.4101C>T	NM_015221.4	NP_056036.1:p.(His1367=)	NC_000010.10:g.101640015G>A	(Likely) benign	1 lab	991d79dfe3
15:48762829 FBN1 A>C	15	48762829	48762829	A	C	FBN1	c.4459+2T>G	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48762829A>C	(Likely) pathogenic	1 lab	991f569d5f
10:79814599 RPS24 A>G	10	79814599	79814599	A	G	RPS24	c.701A>G	NM_001142285.1	NP_001135757.1:p.(His234Arg)	NC_000010.10:g.79814599A>G	(Likely) benign	1 lab	9920b690c4
2:241659337 KIF1A C>T	2	241659337	241659337	C	T	KIF1A	c.4875G>A	NM_001244008.1	NP_001230937.1:p.(Pro1625=)	NC_000002.11:g.241659337C>T	(Likely) benign	1 lab	9921217801
1:11847542 MTHFR G>A	1	11847542	11847542	G	A	MTHFR	c.*3195C>T	NM_005957.5	NP_005948.3:p.?	NC_000001.10:g.11847542G>A	VUS	1 lab	ff83289b6d
8:144906547 PUF60 C>A	8	144906547	144906547	C	A	PUF60	c.47G>T	NM_078480.3	NP_510965.1:p.(Gly16Val)	NC_000008.10:g.144906547C>A	VUS	1 lab	ff85b10139
22:31010329 TCN2 C>T	22	31010329	31010329	C	T	TCN2	c.347-7C>T	NM_001184726.1	NP_001171655.1:p.?	NC_000022.10:g.31010329C>T	(Likely) benign	1 lab	992284d011
X:2928171 ARSH G>A	X	2928171	2928171	G	A	ARSH	c.193G>A	NM_001011719.1	NP_001011719.1:p.(Gly65Ser)	NC_000023.10:g.2928171G>A	(Likely) benign	1 lab	9922cc8812
X:48547336 WAS G>A	X	48547336	48547336	G	A	WAS	c.1219G>A	NM_000377.2	NP_000368.1:p.(Gly407Arg)	NC_000023.10:g.48547336G>A	(Likely) benign	1 lab	9923247cb7
2:170343621 BBS5 T>C	2	170343621	170343621	T	C	BBS5	c.185T>C	NM_152384.2	NP_689597.1:p.(Leu62Ser)	NC_000002.11:g.170343621T>C	VUS	1 lab	9925fe3a5e
7:103162503 RELN G>A	7	103162503	103162503	G	A	RELN	c.7634C>T	NM_005045.3	NP_005036.2:p.(Ala2545Val)	NC_000007.13:g.103162503G>A	VUS	1 lab	99260de4a4
X:118716622 UBE2A A>G	X	118716622	118716622	A	G	UBE2A	c.313A>G	NM_003336.3	NP_003327.2:p.(Ile105Val)	NC_000023.10:g.118716622A>G	VUS	1 lab	9926a22289
10:92680056 ANKRD1 T>G	10	92680056	92680056	T	G	ANKRD1	c.77A>C	NM_014391.2	NP_055206.2:p.(Glu26Ala)	NC_000010.10:g.92680056T>G	VUS	1 lab	9927c6774a
2:152536485 NEB G>A	2	152536485	152536485	G	A	NEB	c.3094C>T	NM_001271208.1	NP_001258137.1:p.(Pro1032Ser)	NC_000002.11:g.152536485G>A	(Likely) benign	1 lab	9929967fa1
10:34606139 PARD3 T>C	10	34606139	34606139	T	C	PARD3	c.2970A>G	NM_019619.3	NP_062565.2:p.(Arg990=)	NC_000010.10:g.34606139T>C	(Likely) benign	1 lab	9929f52f49
X:47486165 CFP T>C	X	47486165	47486165	T	C	CFP	c.940+7A>G	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47486165T>C	(Likely) benign	1 lab	992ad28cec
15:45661600 GATM C>T	15	45661600	45661600	C	T	GATM	c.21G>A	NM_001321015.1	NP_001307944.1:p.(Thr7=)	NC_000015.9:g.45661600C>T	(Likely) benign	1 lab	992c17eb5b
2:230642126 TRIP12 C>T	2	230642126	230642126	C	T	TRIP12	c.5209G>A	NM_004238.3	NP_004229.1:p.(Asp1737Asn)	NC_000002.11:g.230642126C>T	VUS	1 lab	ff85d9a7fa
16:56868144 NUP93 C>T	16	56868144	56868144	C	T	NUP93	c.1273C>T	NM_001242795.1	NP_001229724.1:p.(Leu425Phe)	NC_000016.9:g.56868144C>T	VUS	1 lab	992cddf0c7
19:45868404 ERCC2 G>A	19	45868404	45868404	G	A	ERCC2	c.373C>T	NM_000400.3	NP_000391.1:p.(Arg125Cys)	NC_000019.9:g.45868404G>A	VUS	1 lab	992d48241f
X:38546916 TSPAN7 G>A	X	38546916	38546916	G	A	TSPAN7	c.745G>A	NM_004615.3	NP_004606.2:p.(Val249Met)	NC_000023.10:g.38546916G>A	VUS	1 lab	992e590682
16:67289315 SLC9A5 A>G	16	67289315	67289315	A	G	SLC9A5	c.674A>G	NM_001323973.1	NP_001310902.1:p.(Asn225Ser)	NC_000016.9:g.67289315A>G	(Likely) benign	1 lab	992ebb09e8
17:42285087 UBTF T>C	17	42285087	42285087	T	C	UBTF	c.2005A>G	NM_014233.4	NP_055048.1:p.(Thr669Ala)	NC_000017.10:g.42285087T>C	VUS	1 lab	ff87e221b7
16:2098759 TSC2 G>A	16	2098759	2098759	G	A	TSC2	c.138+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2098759G>A	VUS	1 lab	992fb3c0d0
1:40028064 PABPC4 G>C	1	40028064	40028064	G	C	PABPC4	c.1693C>G	NM_001135653.2	NP_001129125.1:p.(Gln565Glu)	NC_000001.10:g.40028064G>C	(Likely) benign	1 lab	992fd69083
1:228495016 OBSCN A>G	1	228495016	228495016	A	G	OBSCN	c.12250A>G	NM_052843.4	NP_443075.3:p.(Ile4084Val)	NC_000001.10:g.228495016A>G	VUS	1 lab	ff8b1c23a9
9:130635716 AK1 G>A	9	130635716	130635716	G	A	AK1	c.12C>T	NM_001318122.1	NP_001305051.1:p.(Cys4=)	NC_000009.11:g.130635716G>A	(Likely) benign	1 lab	9931843713
17:61804055 STRADA G>A	17	61804055	61804055	G	A	STRADA	c.37C>T	NM_001003787.3	NP_001003787.1:p.(Arg13Trp)	NC_000017.10:g.61804055G>A	VUS	1 lab	9933fd7cf7
X:153689777 PLXNA3 G>A	X	153689777	153689777	G	A	PLXNA3	c.933G>A	NM_017514.4	NP_059984.3:p.(Pro311=)	NC_000023.10:g.153689777G>A	(Likely) benign	1 lab	9934b47609
10:56077022 PCDH15 T>G	10	56077022	56077022	T	G	PCDH15				NC_000010.10:g.56077022T>G	(Likely) benign	1 lab	9934c15b60
8:55541699 RP1 T>C	8	55541699	55541699	T	C	RP1	c.5257T>C	NM_006269.1	NP_006260.1:p.(Leu1753=)	NC_000008.10:g.55541699T>C	(Likely) benign	1 lab	9935b2f664
17:29664383 NF1 C>G	17	29664383	29664383	C	G	NF1	c.6365-3C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664383C>G	VUS	1 lab	993617b7ff
3:38739930 SCN10A C>T	3	38739930	38739930	C	T	SCN10A	c.4781G>A	NM_006514.4	NP_006505.4:p.(Arg1594His)	NC_000003.11:g.38739930C>T	VUS	1 lab	ff8d038412
X:53263662 IQSEC2 C>T	X	53263662	53263662	C	T	IQSEC2	c.4206G>A	NM_001111125.2	NP_001104595.1:p.(Ala1402=)	NC_000023.10:g.53263662C>T	(Likely) benign	1 lab	99385bb3ee
21:46896312 COL18A1 G>T	21	46896312	46896312	G	T	COL18A1	c.846G>T	NM_130445.2	NP_569712.2:p.(Thr282=)	NC_000021.8:g.46896312G>T	(Likely) benign	1 lab	993864eb58
19:55317516 KIR2DL4 T>A	19	55317516	55317516	T	A	KIR2DL4	c.472T>A	NM_001080772.2	NP_001074241.1:p.(Ser158Thr)	NC_000019.9:g.55317516T>A	(Likely) benign	1 lab	99396bd927
14:88454798 GALC C>T	14	88454798	88454798	C	T	GALC	c.264+1G>A	NM_000153.3	NP_000144.2:p.?	NC_000014.8:g.88454798C>T	(Likely) pathogenic	1 lab	993a2a0381
11:88045582 CTSC T>C	11	88045582	88045582	T	C	CTSC	c.459A>G	NM_001814.4	NP_001805.3:p.(Thr153=)	NC_000011.9:g.88045582T>C	(Likely) benign	1 lab	993c890df3
11:117222629 CEP164 T>TG	11	117222629	117222633	T	TG	CEP164	c.322dup	NM_014956.4	NP_055771.4:p.(Ala108GlyfsTer3)	NC_000011.9:g.117222633dup	(Likely) pathogenic	1 lab	993ca72a9e
1:986921 AGRN G>A	1	986921	986921	G	A	AGRN	c.5156G>A	NM_001364727.1	NP_001351656.1:p.(Arg1719Gln)	NC_000001.10:g.986921G>A	VUS	1 lab	993d173543
10:81319075 SFTPA2 G>T	10	81319075	81319075	G	T	SFTPA2	c.195C>A	NM_001320814.1	NP_001307743.1:p.(Gly65=)	NC_000010.10:g.81319075G>T	(Likely) benign	1 lab	993f139587
1:9790668 CLSTN1 G>A	1	9790668	9790668	G	A	CLSTN1	c.2844C>T	NM_001009566.2	NP_001009566.1:p.(Ala948=)	NC_000001.10:g.9790668G>A	(Likely) benign	1 lab	9940eeca38
6:129785553 LAMA2 T>G	6	129785553	129785553	T	G	LAMA2	c.7111T>G	NM_000426.3	NP_000417.2:p.(Phe2371Val)	NC_000006.11:g.129785553T>G	VUS	1 lab	9941beaa99
1:45809148 TOE1 G>C	1	45809148	45809148	G	C	TOE1	c.1307G>C	NM_025077.4	NP_079353.3:p.(Gly436Ala)	NC_000001.10:g.45809148G>C	VUS	1 lab	9942455fe4
11:6647219 DCHS1 G>A	11	6647219	6647219	G	A	DCHS1				NC_000011.9:g.6647219G>A	(Likely) benign	1 lab	9942c3d2a7
21:44190886 PDE9A G>A	21	44190886	44190886	G	A	PDE9A	c.1664G>A	NM_002606.2	NP_002597.1:p.(Arg555Gln)	NC_000021.8:g.44190886G>A	(Likely) benign	1 lab	99438d9430
X:1561150 ASMTL C>G	X	1561150	1561150	C	G	ASMTL	c.154G>C	NM_004192.3	NP_004183.2:p.(Ala52Pro)	NC_000023.10:g.1561150C>G	(Likely) benign	1 lab	9943ec31a9
14:34269626 NPAS3 G>A	14	34269626	34269626	G	A	NPAS3	c.2113G>A	NM_001164749.1	NP_001158221.1:p.(Gly705Arg)	NC_000014.8:g.34269626G>A	(Likely) benign	1 lab	99443bdc22
5:1443255 SLC6A3 C>A	5	1443255	1443255	C	A	SLC6A3	c.58G>T	NM_001044.4	NP_001035.1:p.(Glu20Ter)	NC_000005.9:g.1443255C>A	VUS	1 lab	9997579aa9
3:186965162 MASP1 C>T	3	186965162	186965162	C	T	MASP1	c.1102G>A	NM_001031849.2	NP_001027019.1:p.(Asp368Asn)	NC_000003.11:g.186965162C>T	(Likely) benign	1 lab	9944f0462d
16:78458750 WWOX G>A	16	78458750	78458750	G	A	WWOX	c.606-17G>A	NM_016373.3	NP_057457.1:p.?	NC_000016.9:g.78458750G>A	(Likely) benign	1 lab	99456bcadf
11:16010679 SOX6 G>A	11	16010679	16010679	G	A	SOX6	c.1749C>T	NM_017508.3	NP_059978.2:p.(Asp583=)	NC_000011.9:g.16010679G>A	(Likely) benign	1 lab	99458d204a
5:113699683 KCNN2 C>T	5	113699683	113699683	C	T	KCNN2	c.1401C>T	NM_001372233.1	NP_001359162.1:p.(His467=)	NC_000005.9:g.113699683C>T	(Likely) benign	1 lab	ff928a08c9
9:139313499 PMPCA C>T	9	139313499	139313499	C	T	PMPCA	c.1204C>T	NM_015160.2	NP_055975.1:p.(Arg402Ter)	NC_000009.11:g.139313499C>T	VUS	1 lab	99486b1360
10:26417373 MYO3A A>G	10	26417373	26417373	A	G	MYO3A	c.2168A>G	NM_017433.5	NP_059129.3:p.(Asn723Ser)	NC_000010.10:g.26417373A>G	VUS	1 lab	9948e34d94
10:79773505 POLR3A A>G	10	79773505	79773505	A	G	POLR3A	c.1475T>C	NM_007055.3	NP_008986.2:p.(Val492Ala)	NC_000010.10:g.79773505A>G	(Likely) benign	1 lab	9948fe0eee
19:18272995 PIK3R2 G>A	19	18272995	18272995	G	A	PIK3R2	c.902-17G>A	NM_005027.3	NP_005018.1:p.?	NC_000019.9:g.18272995G>A	(Likely) benign	1 lab	994a20199a
13:24465574 C1QTNF9B G>T	13	24465574	24465574	G	T	C1QTNF9B	c.856C>A	NM_001007537.2	NP_001007538.1:p.(Gln286Lys)	NC_000013.10:g.24465574G>T	VUS	1 lab	994adb7065
1:156084746 LMNA G>A	1	156084746	156084746	G	A	LMNA				NC_000001.10:g.156084746G>A	VUS	1 lab	994b4b5e4c
20:21126240 KIZ G>A	20	21126240	21126240	G	A	KIZ	c.350G>A	NM_018474.5	NP_060944.3:p.(Cys117Tyr)	NC_000020.10:g.21126240G>A	VUS	1 lab	994b4dad7f
4:187158067 KLKB1 C>T	4	187158067	187158067	C	T	KLKB1	c.461C>T	NM_000892.3	NP_000883.2:p.(Thr154Met)	NC_000004.11:g.187158067C>T	VUS	1 lab	994b85733a
19:50917119 POLD1 C>T	19	50917119	50917119	C	T	POLD1	c.2449C>T	NM_001308632.1	NP_001295561.1:p.(Arg817Trp)	NC_000019.9:g.50917119C>T	VUS	1 lab	994c5639c0
11:88027633 CTSC G>C	11	88027633	88027633	G	C	CTSC	c.933C>G	NM_001814.4	NP_001805.3:p.(Ala311=)	NC_000011.9:g.88027633G>C	(Likely) benign	1 lab	994d5ff39e
2:179418400 TTN C>T	2	179418400	179418400	C	T	TTN	c.89332G>A	NM_001267550.1	NP_001254479.1:p.(Glu29778Lys)	NC_000002.11:g.179418400C>T	VUS	1 lab	994eb4cebd
18:44149502 LOXHD1 A>G	18	44149502	44149502	A	G	LOXHD1	c.2147T>C	NM_144612.6	NP_653213.6:p.(Ile716Thr)	NC_000018.9:g.44149502A>G	VUS	1 lab	994ebb100f
4:103592442 MANBA A>G	4	103592442	103592442	A	G	MANBA	c.1226T>C	NM_005908.3	NP_005899.3:p.(Ile409Thr)	NC_000004.11:g.103592442A>G	VUS	1 lab	9950161a90
17:18051363 MYO15A G>A	17	18051363	18051363	G	A	MYO15A	c.6530G>A	NM_016239.3	NP_057323.3:p.(Arg2177Gln)	NC_000017.10:g.18051363G>A	(Likely) benign	1 lab	99512567a8
17:56291146 MKS1 C>T	17	56291146	56291146	C	T	MKS1	c.729G>A	NM_017777.3	NP_060247.2:p.(Thr243=)	NC_000017.10:g.56291146C>T	(Likely) benign	1 lab	99773f69c5
6:167360164 RNASET2 C>CAAT	6	167360164	167360168	C	CAAT	RNASET2	c.261+3_261+5dup	NM_003730.5	NP_003721.2:p.?	NC_000006.11:g.167360166_167360168dup	(Likely) benign	1 lab	995125eac7
1:61869901 NFIA C>T	1	61869901	61869901	C	T	NFIA	c.1201C>T	NM_001134673.4	NP_001128145.1:p.(Gln401Ter)	NC_000001.10:g.61869901C>T	(Likely) pathogenic	1 lab	995173043a
X:53656463 HUWE1 T>G	X	53656463	53656463	T	G	HUWE1	c.963+4A>C	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53656463T>G	(Likely) benign	1 lab	ff952757b7
3:37035142 MLH1 TG>AC	3	37035142	37035143	TG	AC	MLH1	c.104_105delinsAC	NM_000249.3	NP_000240.1:p.(Met35Asn)	NC_000003.11:g.37035142_37035143delinsAC	(Likely) pathogenic	1 lab	9954c1cfeb
1:152284540 FLG C>T	1	152284540	152284540	C	T	FLG	c.2822G>A	NM_002016.1	NP_002007.1:p.(Arg941His)	NC_000001.10:g.152284540C>T	(Likely) benign	1 lab	99554b3331
10:116735114 TRUB1 A>T	10	116735114	116735114	A	T	TRUB1	c.1026A>T	NM_139169.5	NP_631908.1:p.(Glu342Asp)	NC_000010.10:g.116735114A>T	(Likely) benign	1 lab	9959a2b118
17:18061109 MYO15A C>G	17	18061109	18061109	C	G	MYO15A	c.8862C>G	NM_016239.3	NP_057323.3:p.(Pro2954=)	NC_000017.10:g.18061109C>G	(Likely) benign	1 lab	9959b2a5a3
11:1269247 MUC5B T>A	11	1269247	1269247	T	A	MUC5B	c.11137T>A	NM_002458.2	NP_002449.2:p.(Ser3713Thr)	NC_000011.9:g.1269247T>A	(Likely) benign	1 lab	9959b576f8
2:152438092 NEB G>A	2	152438092	152438092	G	A	NEB	c.16189C>T	NM_001271208.1	NP_001258137.1:p.(Arg5397Cys)	NC_000002.11:g.152438092G>A	VUS	1 lab	995ad82fb8
21:46950864 SLC19A1 G>A	21	46950864	46950864	G	A	SLC19A1	c.971C>T	NM_194255.3	NP_919231.1:p.(Ala324Val)	NC_000021.8:g.46950864G>A	VUS	1 lab	998296d38a
1:215953192 USH2A C>T	1	215953192	215953192	C	T	USH2A	c.10932G>A	NM_206933.2	NP_996816.2:p.(Thr3644=)	NC_000001.10:g.215953192C>T	(Likely) benign	1 lab	995c031940
9:135983561 RALGDS T>C	9	135983561	135983561	T	C	RALGDS	c.1011A>G	NM_006266.4	NP_006257.1:p.(Pro337=)	NC_000009.11:g.135983561T>C	(Likely) benign	1 lab	995e9e30c4
14:76429807 TGFB3 C>T	14	76429807	76429807	C	T	TGFB3	c.778G>A	NM_003239.2	NP_003230.1:p.(Gly260Ser)	NC_000014.8:g.76429807C>T	(Likely) benign	1 lab	996031eba2
12:80747246 OTOGL T>C	12	80747246	80747246	T	C	OTOGL	c.5522T>C	NM_173591.3	NP_775862.3:p.(Leu1841Pro)	NC_000012.11:g.80747246T>C	VUS	1 lab	99613705b9
11:607712 PHRF1 C>CCCCAGCT	11	607712	607723	C	CCCCAGCT	PHRF1	c.2261_2267dup	NM_001286581.2	NP_001273510.1:p.(His756GlnfsTer22)	NC_000011.9:g.607717_607723dup	VUS	1 lab	9961dbe11e
X:54012249 PHF8 G>A	X	54012249	54012249	G	A	PHF8	c.2129C>T	NM_015107.2	NP_055922.1:p.(Thr710Ile)	NC_000023.10:g.54012249G>A	(Likely) benign	1 lab	996355d1ba
1:59844481 FGGY T>C	1	59844481	59844481	T	C	FGGY	c.358T>C	NM_001350793.1	NP_001337722.1:p.(Ser120Pro)	NC_000001.10:g.59844481T>C	VUS	1 lab	9963b05fe6
2:98834412 VWA3B AG>A	2	98834412	98834414	AG	A	VWA3B	c.1942del	NM_144992.5	NP_659429.4:p.(Val648LeufsTer4)	NC_000002.11:g.98834414del	VUS	1 lab	9964082eb4
13:96375508 DNAJC3 A>G	13	96375508	96375508	A	G	DNAJC3	c.206A>G	NM_006260.4	NP_006251.1:p.(Asp69Gly)	NC_000013.10:g.96375508A>G	VUS	1 lab	99646931e8
1:17277539 CROCC T>C	1	17277539	17277539	T	C	CROCC	c.2928T>C	NM_014675.5	NP_055490.4:p.(Ala976=)	NC_000001.10:g.17277539T>C	(Likely) benign	1 lab	99678f2cb9
6:152949442 SYNE1 G>A	6	152949442	152949442	G	A	SYNE1	c.25C>T	NM_182961.3	NP_892006.3:p.(Arg9Trp)	NC_000006.11:g.152949442G>A	VUS	1 lab	9967920671
X:591704 SHOX A>T	X	591704	591704	A	T	SHOX	c.72A>T	NM_000451.3	NP_000442.1:p.(Gly24=)	NC_000023.10:g.591704A>T	(Likely) benign	1 lab	9969a20930
17:19316371 RNF112 C>G	17	19316371	19316371	C	G	RNF112	c.502C>G	NM_007148.5	NP_009079.2:p.(Pro168Ala)	NC_000017.10:g.19316371C>G	(Likely) benign	1 lab	996b9b563d
1:64089286 PGM1 G>A	1	64089286	64089286	G	A	PGM1	c.155G>A	NM_001172818.1	NP_001166289.1:p.(Cys52Tyr)	NC_000001.10:g.64089286G>A	(Likely) benign	1 lab	996d9d72c2
3:48508237 TREX1 G>A	3	48508237	48508237	G	A	TREX1	c.153G>A	NM_007248.4	NP_009179.2:p.(Pro51=)	NC_000003.11:g.48508237G>A	(Likely) benign	1 lab	996f872234
5:90052799 ADGRV1 G>A	5	90052799	90052799	G	A	ADGRV1	c.11761G>A	NM_032119.4	NP_115495.3:p.(Ala3921Thr)	NC_000005.9:g.90052799G>A	(Likely) benign	1 lab	996fbf5381
16:72984791 ZFHX3 G>A	16	72984791	72984791	G	A	ZFHX3	c.2793C>T	NM_006885.3	NP_008816.3:p.(Gly931=)	NC_000016.9:g.72984791G>A	VUS	1 lab	996ff834f6
X:153770590 IKBKG G>A	X	153770590	153770590	G	A	IKBKG	c.112G>A	NM_001099856.4	NP_001093326.2:p.(Glu38Lys)	NC_000023.10:g.153770590G>A	VUS	1 lab	99706a55ac
8:20107740 LZTS1 G>C	8	20107740	20107740	G	C	LZTS1	c.1284C>G	NM_001362884.1	NP_001349813.1:p.(Gly428=)	NC_000008.10:g.20107740G>C	(Likely) benign	1 lab	997198b9b1
9:6605121 GLDC G>A	9	6605121	6605121	G	A	GLDC	c.861+10C>T	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6605121G>A	(Likely) benign	1 lab	9971b0cc6d
2:3687926 COLEC11 G>A	2	3687926	3687926	G	A	COLEC11	c.319+5G>A	NM_199235.2	NP_954705.1:p.?	NC_000002.11:g.3687926G>A	(Likely) benign	1 lab	9973a186ee
16:335384 PDIA2 C>T	16	335384	335384	C	T	PDIA2	c.868C>T	NM_006849.3	NP_006840.2:p.(His290Tyr)	NC_000016.9:g.335384C>T	(Likely) benign	1 lab	997627856a
X:135741275 CD40LG G>A	X	135741275	135741275	G	A	CD40LG	c.487G>A	NM_000074.2	NP_000065.1:p.(Val163Ile)	NC_000023.10:g.135741275G>A	(Likely) benign	1 lab	99770db178
X:101911642 GPRASP1 A>G	X	101911642	101911642	A	G	GPRASP1	c.2801A>G	NM_001184727.1	NP_001171656.1:p.(Glu934Gly)	NC_000023.10:g.101911642A>G	VUS	1 lab	9978822055
Y:14959191 USP9Y C>T	Y	14959191	14959191	C	T	USP9Y	c.7003C>T	NM_004654.3	NP_004645.2:p.(Arg2335Trp)	NC_000024.9:g.14959191C>T	(Likely) benign	1 lab	9979b21b6c
6:152599312 SYNE1 G>A	6	152599312	152599312	G	A	SYNE1	c.18485C>T	NM_182961.3	NP_892006.3:p.(Ala6162Val)	NC_000006.11:g.152599312G>A	VUS	1 lab	997b98eb19
2:152496526 NEB A>G	2	152496526	152496526	A	G	NEB	c.8734T>C	NM_001271208.2	NP_001258137.2:p.(Ser2912Pro)	NC_000002.11:g.152496526A>G	(Likely) benign	1 lab	ff9a82e057
16:4382332 GLIS2 C>G	16	4382332	4382332	C	G	GLIS2	c.51C>G	NM_001318918.1	NP_001305847.1:p.(Leu17=)	NC_000016.9:g.4382332C>G	(Likely) benign	1 lab	997d4db95c
2:145147192 ZEB2 G>A	2	145147192	145147192	G	A	ZEB2	c.3471C>T	NM_014795.3	NP_055610.1:p.(Asp1157=)	NC_000002.11:g.145147192G>A	(Likely) benign	1 lab	997f046c2e
1:19238567 IFFO2 A>C	1	19238567	19238567	A	C	IFFO2	c.1114T>G	NM_001136265.2	NP_001129737.1:p.(Phe372Val)	NC_000001.10:g.19238567A>C	VUS	1 lab	997f209f49
2:222310840 EPHA4 T>C	2	222310840	222310840	T	C	EPHA4	c.1774+3A>G	NM_001304536.1	NP_001291465.1:p.?	NC_000002.11:g.222310840T>C	VUS	1 lab	997f52a1bd
2:109397854 RANBP2 T>C	2	109397854	109397854	T	C	RANBP2	c.8729T>C	NM_006267.4	NP_006258.3:p.(Ile2910Thr)	NC_000002.11:g.109397854T>C	VUS	1 lab	997f5cfd02
3:4725103 ITPR1 C>T	3	4725103	4725103	C	T	ITPR1	c.3150C>T	NM_001168272.1	NP_001161744.1:p.(His1050=)	NC_000003.11:g.4725103C>T	(Likely) benign	1 lab	99803f2286
7:75684258 MDH2 G>A	7	75684258	75684258	G	A	MDH2	c.177G>A	NM_005918.3	NP_005909.2:p.(Ala59=)	NC_000007.13:g.75684258G>A	(Likely) benign	1 lab	99809df28a
9:117853237 TNC C>T	9	117853237	117853237	C	T	TNC	c.61G>A	NM_002160.3	NP_002151.2:p.(Glu21Lys)	NC_000009.11:g.117853237C>T	(Likely) benign	1 lab	99815ad337
14:80669517 DIO2 G>GGC	14	80669517	80669519	G	GGC	DIO2	c.335_336dup	NM_001324462.2	NP_001311391.2:p.(His113delinsAlaThrPheLeuThrLeuProAlaLeuSerAlaHisTer)	NC_000014.8:g.80669518_80669519dup	VUS	1 lab	99820c149a
2:179640348 TTN G>A	2	179640348	179640348	G	A	TTN	c.6243C>T	NM_001267550.1	NP_001254479.1:p.(Phe2081=)	NC_000002.11:g.179640348G>A	(Likely) benign	1 lab	9982ff671e
4:77476876 SHROOM3 G>C	4	77476876	77476876	G	C	SHROOM3	c.283G>C	NM_020859.4	NP_065910.3:p.(Val95Leu)	NC_000004.11:g.77476876G>C	VUS	1 lab	ff9bb46433
12:4398042 CCND2 C>T	12	4398042	4398042	C	T	CCND2	c.606C>T	NM_001759.3	NP_001750.1:p.(Ile202=)	NC_000012.11:g.4398042C>T	(Likely) benign	1 lab	9983cc4ec7
9:139418182 NOTCH1 C>T	9	139418182	139418182	C	T	NOTCH1	c.390G>A	NM_017617.5	NP_060087.3:p.(Pro130=)	NC_000009.11:g.139418182C>T	(Likely) benign	1 lab	99863c51ae
3:48629584 COL7A1 G>C	3	48629584	48629584	G	C	COL7A1	c.1191C>G	NM_000094.3	NP_000085.1:p.(Thr397=)	NC_000003.11:g.48629584G>C	(Likely) benign	1 lab	9987a57e7c
17:29663782 NF1 T>TC	17	29663782	29663785	T	TC	NF1	c.6217dup	NM_000267.3	NP_000258.1:p.(Leu2073ProfsTer2)	NC_000017.10:g.29663785dup	(Likely) pathogenic	1 lab	9987a8e000
10:101639762 DNMBP C>G	10	101639762	101639762	C	G	DNMBP	c.4354G>C	NM_015221.4	NP_056036.1:p.(Val1452Leu)	NC_000010.10:g.101639762C>G	(Likely) benign	1 lab	998843c65f
2:26684678 OTOF C>T	2	26684678	26684678	C	T	OTOF	c.5419G>A	NM_194248.2	NP_919224.1:p.(Val1807Ile)	NC_000002.11:g.26684678C>T	VUS	1 lab	9988d7ca25
11:1268155 MUC5B C>A	11	1268155	1268155	C	A	MUC5B	c.10045C>A	NM_002458.2	NP_002449.2:p.(Pro3349Thr)	NC_000011.9:g.1268155C>A	(Likely) benign	1 lab	998935c16a
12:133256774 POLE G>T	12	133256774	133256774	G	T	POLE	c.320C>A	NM_006231.3	NP_006222.2:p.(Ala107Glu)	NC_000012.11:g.133256774G>T	VUS	1 lab	998977318d
15:67358478 SMAD3 G>A	15	67358478	67358478	G	A	SMAD3	c.-15G>A	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67358478G>A	(Likely) benign	1 lab	998a696fdd
X:34149647 FAM47A C>A	X	34149647	34149647	C	A	FAM47A	c.749G>T	NM_203408.3	NP_981953.2:p.(Gly250Val)	NC_000023.10:g.34149647C>A	(Likely) benign	1 lab	998a90d488
1:213062590 FLVCR1 A>G	1	213062590	213062590	A	G	FLVCR1	c.1516A>G	NM_014053.3	NP_054772.1:p.(Ile506Val)	NC_000001.10:g.213062590A>G	VUS	1 lab	998b49e549
9:140972647 CACNA1B C>T	9	140972647	140972647	C	T	CACNA1B	c.5031C>T	NM_000718.3	NP_000709.1:p.(Thr1677=)	NC_000009.11:g.140972647C>T	(Likely) benign	1 lab	998bcc6a37
9:35705542 TLN1 G>A	9	35705542	35705542	G	A	TLN1	c.5733+6C>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35705542G>A	(Likely) benign	1 lab	998d2d187c
2:74779675 LOXL3 A>C	2	74779675	74779675	A	C	LOXL3	c.87T>G	NM_032603.4	NP_115992.1:p.(Pro29=)	NC_000002.11:g.74779675A>C	(Likely) benign	1 lab	998d8d3942
1:177906464 SEC16B C>T	1	177906464	177906464	C	T	SEC16B	c.2388G>A	NM_033127.3	NP_149118.2:p.(Arg796=)	NC_000001.10:g.177906464C>T	(Likely) benign	1 lab	99907e45d4
1:108735203 SLC25A24 T>C	1	108735203	108735203	T	C	SLC25A24	c.41A>G	NM_213651.2	NP_998816.1:p.(Tyr14Cys)	NC_000001.10:g.108735203T>C	(Likely) benign	1 lab	99915d14c1
20:2644606 IDH3B T>C	20	2644606	2644606	T	C	IDH3B	c.82A>G	NM_006899.4	NP_008830.2:p.(Thr28Ala)	NC_000020.10:g.2644606T>C	(Likely) benign	1 lab	9992501ce8
10:102005676 CWF19L1 A>C	10	102005676	102005676	A	C	CWF19L1	c.439-6T>G	NM_001303405.1	NP_001290334.1:p.?	NC_000010.10:g.102005676A>C	VUS	1 lab	9992a555da
16:70873956 HYDIN A>AGCCT	16	70873956	70873962	A	AGCCT	HYDIN	c.13043+7_13043+10dup	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70873959_70873962dup	(Likely) benign	1 lab	999320dedd
19:10335550 S1PR2 G>T	19	10335550	10335550	G	T	S1PR2	c.32C>A	NM_004230.4	NP_004221.3:p.(Pro11His)	NC_000019.9:g.10335550G>T	VUS	1 lab	9993b5aebb
5:125887725 ALDH7A1 G>C	5	125887725	125887725	G	C	ALDH7A1	c.1305C>G	NM_001182.4	NP_001173.2:p.(Val435=)	NC_000005.9:g.125887725G>C	(Likely) benign	1 lab	99946ae083
5:140228507 PCDHA9 G>A	5	140228507	140228507	G	A	PCDHA9	c.427G>A	NM_014005.4	NP_054724.1:p.(Ala143Thr)	NC_000005.9:g.140228507G>A	(Likely) benign	1 lab	9994d0cf6a
5:60839821 ZSWIM6 C>T	5	60839821	60839821	C	T	ZSWIM6	c.3325C>T	NM_020928.1	NP_065979.1:p.(Arg1109Cys)	NC_000005.9:g.60839821C>T	VUS	1 lab	9997f55430
1:42922290 PPCS C>G	1	42922290	42922290	C	G	PPCS	c.54C>G	NM_024664.4	NP_078940.2:p.(Arg18=)	NC_000001.10:g.42922290C>G	(Likely) benign	1 lab	99982d17b6
16:2130243 TSC2 C>T	16	2130243	2130243	C	T	TSC2	c.3475C>T	NM_001114382.2	NP_001107854.1:p.(Arg1159Trp)	NC_000016.9:g.2130243C>T	VUS	1 lab	999a7f6cb4
18:12718541 PSMG2 A>G	18	12718541	12718541	A	G	PSMG2	c.314A>G	NM_020232.5	NP_064617.2:p.(Lys105Arg)	NC_000018.9:g.12718541A>G	(Likely) benign	1 lab	999c2b5f69
X:66942692 AR C>T	X	66942692	66942692	C	T	AR	c.2473C>T	NM_000044.4	NP_000035.2:p.(Gln825Ter)	NC_000023.10:g.66942692C>T	(Likely) pathogenic	1 lab	999c54636c
X:24948653 POLA1 C>T	X	24948653	24948653	C	T	POLA1	c.4230C>T	NM_016937.3	NP_058633.2:p.(Thr1410=)	NC_000023.10:g.24948653C>T	(Likely) benign	1 lab	999d6e2775
X:50377847 SHROOM4 C>T	X	50377847	50377847	C	T	SHROOM4	c.1226G>A	NM_020717.3	NP_065768.2:p.(Arg409His)	NC_000023.10:g.50377847C>T	VUS	1 lab	999f742127
8:43047452 HGSNAT A>G	8	43047452	43047452	A	G	HGSNAT	c.1256A>G	NM_152419.2	NP_689632.2:p.(Tyr419Cys)	NC_000008.10:g.43047452A>G	VUS	1 lab	99a1ed9aa7
19:10260328 DNMT1 G>A	19	10260328	10260328	G	A	DNMT1	c.2339C>T	NM_001379.3	NP_001370.1:p.(Thr780Met)	NC_000019.9:g.10260328G>A	VUS	1 lab	99a24354b6
18:77733858 TXNL4A T>C	18	77733858	77733858	T	C	TXNL4A	c.258-2A>G	NM_006701.5	NP_006692.1:p.?	NC_000018.9:g.77733858T>C	(Likely) pathogenic	1 lab	99a3af7805
X:135741549 CD40LG C>T	X	135741549	135741549	C	T	CD40LG	c.761C>T	NM_000074.2	NP_000065.1:p.(Thr254Met)	NC_000023.10:g.135741549C>T	(Likely) pathogenic	1 lab	99a472fa98
9:27205046 TEK C>G	9	27205046	27205046	C	G	TEK	c.2347C>G	NM_000459.4	NP_000450.2:p.(Gln783Glu)	NC_000009.11:g.27205046C>G	VUS	1 lab	99a4b6ee18
13:39338436 FREM2 T>G	13	39338436	39338436	T	G	FREM2	c.5264-5T>G	NM_207361.5	NP_997244.4:p.?	NC_000013.10:g.39338436T>G	VUS	1 lab	bb890fdb09
10:55582413 PCDH15 A>C	10	55582413	55582413	A	C	PCDH15	c.5094T>G	NM_001142763.1	NP_001136235.1:p.(Ser1698Arg)	NC_000010.10:g.55582413A>C	VUS	1 lab	99a4bcc487
1:154569366 ADAR C>CT	1	154569366	154569367	C	CT	ADAR	c.1299_1300insA	NM_001193495.2	NP_001180424.1:p.(Gly434ArgfsTer15)	NC_000001.10:g.154569366_154569367insT	(Likely) pathogenic	1 lab	99a781cbf6
4:185578363 PRIMPOL G>A	4	185578363	185578363	G	A	PRIMPOL	c.69G>A	NM_152683.3	NP_689896.1:p.(Pro23=)	NC_000004.11:g.185578363G>A	(Likely) benign	1 lab	99a8082636
2:135890496 RAB3GAP1 C>G	2	135890496	135890496	C	G	RAB3GAP1	c.1268C>G	NM_001172435.1	NP_001165906.1:p.(Pro423Arg)	NC_000002.11:g.135890496C>G	(Likely) benign	1 lab	99a83d01ff
20:61040885 GATA5 C>T	20	61040885	61040885	C	T	GATA5	c.913+5G>A	NM_080473.4	NP_536721.1:p.?	NC_000020.10:g.61040885C>T	VUS	1 lab	99a8b0d67a
20:62071033 KCNQ2 T>C	20	62071033	62071033	T	C	KCNQ2	c.845A>G	NM_172107.4	NP_742105.1:p.(Asp282Gly)	NC_000020.10:g.62071033T>C	(Likely) pathogenic	1 lab	ff9ef5727a
1:161821525 ATF6 G>A	1	161821525	161821525	G	A	ATF6	c.1333G>A	NM_007348.3	NP_031374.2:p.(Val445Ile)	NC_000001.10:g.161821525G>A	VUS	1 lab	99a9ece00c
3:25622168 RARB C>T	3	25622168	25622168	C	T	RARB	c.762C>T	NM_001290216.2	NP_001277145.1:p.(Ile254=)	NC_000003.11:g.25622168C>T	(Likely) benign	1 lab	99aa8c2b2e
10:75874058 VCL C>T	10	75874058	75874058	C	T	VCL	c.3066C>T	NM_014000.2	NP_054706.1:p.(Ile1022=)	NC_000010.10:g.75874058C>T	(Likely) benign	1 lab	99ad5360bb
13:100741410 PCCA C>T	13	100741410	100741410	C	T	PCCA	c.36C>T	NM_000282.3	NP_000273.2:p.(Val12=)	NC_000013.10:g.100741410C>T	(Likely) benign	1 lab	99adabfac3
1:197099178 ASPM A>AT	1	197099178	197099179	A	AT	ASPM	c.2495dup	NM_018136.4	NP_060606.3:p.(Tyr832Ter)	NC_000001.10:g.197099179dup	(Likely) pathogenic	1 lab	99aefb42bd
2:198358114 HSPD1 C>T	2	198358114	198358114	C	T	HSPD1	c.803G>A	NM_002156.5	NP_002147.2:p.(Arg268His)	NC_000002.11:g.198358114C>T	VUS	1 lab	99af39457c
2:219526205 BCS1L GA>G	2	219526205	219526207	GA	G	BCS1L	c.399del	NM_001079866.2	NP_001073335.1:p.(Glu133AspfsTer25)	NC_000002.11:g.219526207del	(Likely) pathogenic	1 lab	99afc2af97
20:47605080 ARFGEF2 A>G	20	47605080	47605080	A	G	ARFGEF2	c.2414A>G	NM_006420.2	NP_006411.2:p.(Asn805Ser)	NC_000020.10:g.47605080A>G	VUS	1 lab	99b1396d5d
16:4938172 PPL C>T	16	4938172	4938172	C	T	PPL	c.2445G>A	NM_002705.5	NP_002696.4:p.(Glu815=)	NC_000016.9:g.4938172C>T	(Likely) benign	1 lab	99b2b41f2a
15:62253919 VPS13C G>C	15	62253919	62253919	G	C	VPS13C	c.3777C>G	NM_001018088.2	NP_001018098.1:p.(Thr1259=)	NC_000015.9:g.62253919G>C	(Likely) benign	1 lab	99b64b9dca
16:2136815 TSC2 CTT>C	16	2136815	2136818	CTT	C	TSC2	c.4934_4935del	NM_000548.5	NP_000539.2:p.(Phe1645CysfsTer7)	NC_000016.9:g.2136817_2136818del	(Likely) pathogenic	1 lab	99b6b71d4b
12:111856097 SH2B3 C>T	12	111856097	111856097	C	T	SH2B3	c.148C>T	NM_005475.2	NP_005466.1:p.(Arg50Trp)	NC_000012.11:g.111856097C>T	VUS	1 lab	99b998f920
X:39932428 BCOR A>G	X	39932428	39932428	A	G	BCOR	c.2171T>C	NM_001123385.1	NP_001116857.1:p.(Met724Thr)	NC_000023.10:g.39932428A>G	VUS	1 lab	99ba0e7d03
1:33256858 YARS1 G>A	1	33256858	33256858	G	A	YARS1	c.592-3C>T	NM_003680.3	NP_003671.1:p.?	NC_000001.10:g.33256858G>A	(Likely) benign	1 lab	99ba7ef366
9:123220814 CDK5RAP2 G>A	9	123220814	123220814	G	A	CDK5RAP2	c.2289C>T	NM_018249.5	NP_060719.4:p.(His763=)	NC_000009.11:g.123220814G>A	(Likely) benign	1 lab	99bb10fa7a
9:140728902 EHMT1 G>C	9	140728902	140728902	G	C	EHMT1	c.3642G>C	NM_024757.5	NP_079033.4:p.(Met1214Ile)	NC_000009.11:g.140728902G>C	VUS	1 lab	ff9fe9897a
22:51121836 MISSING A>C	22	51121836	51121836	A	C	MISSING				NC_000022.10:g.51121836A>C	(Likely) benign	1 lab	99bce7f309
2:170131729 LRP2 C>T	2	170131729	170131729	C	T	LRP2	c.1792G>A	NM_004525.3	NP_004516.2:p.(Gly598Ser)	NC_000002.11:g.170131729C>T	VUS	1 lab	99bf679bd1
18:7049180 LAMA1 C>T	18	7049180	7049180	C	T	LAMA1	c.665G>A	NM_005559.3	NP_005550.2:p.(Arg222Gln)	NC_000018.9:g.7049180C>T	VUS	1 lab	99c23b802a
18:61260165 SERPINB13 T>C	18	61260165	61260165	T	C	SERPINB13	c.459T>C	NM_001307923.1	NP_001294852.1:p.(Ser153=)	NC_000018.9:g.61260165T>C	(Likely) benign	1 lab	99c2fe5dd0
11:6640114 TPP1 G>A	11	6640114	6640114	G	A	TPP1	c.122C>T	NM_000391.3	NP_000382.3:p.(Ala41Val)	NC_000011.9:g.6640114G>A	(Likely) benign	1 lab	99c30bf368
14:105417140 AHNAK2 G>C	14	105417140	105417140	G	C	AHNAK2	c.4648C>G	NM_138420.3	NP_612429.2:p.(Leu1550Val)	NC_000014.8:g.105417140G>C	(Likely) benign	1 lab	99c3504985
X:139586224 SOX3 C>T	X	139586224	139586224	C	T	SOX3	c.1002G>A	NM_005634.2	NP_005625.2:p.(Gly334=)	NC_000023.10:g.139586224C>T	(Likely) benign	1 lab	99c3d92895
X:152960614 SLC6A8 C>T	X	152960614	152960614	C	T	SLC6A8	c.1853C>T	NM_005629.3	NP_005620.1:p.(Thr618Ile)	NC_000023.10:g.152960614C>T	VUS	1 lab	99c4b5e3d3
5:122722369 CEP120 T>A	5	122722369	122722369	T	A	CEP120	c.1431-8A>T	NM_153223.3	NP_694955.2:p.?	NC_000005.9:g.122722369T>A	(Likely) benign	1 lab	99c4b78f4d
8:145164678 WDR97 G>A	8	145164678	145164678	G	A	WDR97	c.1441G>A	NM_001316309.1	NP_001303238.1:p.(Ala481Thr)	NC_000008.10:g.145164678G>A	VUS	1 lab	99c53f44f4
2:200213431 SATB2 C>T	2	200213431	200213431	C	T	SATB2	c.1166G>A	NM_001172509.2	NP_001165980.1:p.(Arg389His)	NC_000002.11:g.200213431C>T	VUS	1 lab	99c5fa0c9c
X:5947355 NLGN4X G>A	X	5947355	5947355	G	A	NLGN4X	c.591C>T	NM_001282145.1	NP_001269074.1:p.(Ile197=)	NC_000023.10:g.5947355G>A	(Likely) benign	1 lab	99c653c200
9:90748536 SPATA31C2 C>G	9	90748536	90748536	C	G	SPATA31C2	c.238G>C	NM_001166137.1	NP_001159609.1:p.(Gly80Arg)	NC_000009.11:g.90748536C>G	VUS	1 lab	99c7928b54
21:47832828 PCNT C>T	21	47832828	47832828	C	T	PCNT	c.6072C>T	NM_006031.5	NP_006022.3:p.(Thr2024=)	NC_000021.8:g.47832828C>T	(Likely) benign	1 lab	99c7af5586
3:110845086 NECTIN3 G>T	3	110845086	110845086	G	T	NECTIN3	c.973G>T	NM_001243286.1	NP_001230215.1:p.(Val325Phe)	NC_000003.11:g.110845086G>T	VUS	1 lab	99c85f82d7
11:1266692 MUC5B C>A	11	1266692	1266692	C	A	MUC5B	c.8582C>A	NM_002458.2	NP_002449.2:p.(Ala2861Asp)	NC_000011.9:g.1266692C>A	VUS	1 lab	99c99da30a
18:67817837 RTTN G>A	18	67817837	67817837	G	A	RTTN	c.2055+7C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67817837G>A	(Likely) benign	1 lab	99cad766f1
5:38933005 OSMR G>C	5	38933005	38933005	G	C	OSMR	c.2399G>C	NM_003999.2	NP_003990.1:p.(Ser800Thr)	NC_000005.9:g.38933005G>C	(Likely) benign	1 lab	99cb4cb33e
5:39341263 C9 C>T	5	39341263	39341263	C	T	C9	c.461G>A	NM_001737.3	NP_001728.1:p.(Arg154Gln)	NC_000005.9:g.39341263C>T	VUS	1 lab	99cbf955c0
3:170584180 RPL22L1 ACT>A	3	170584180	170584184	ACT	A	RPL22L1	c.356_357del	NM_001099645.2	NP_001093115.1:p.(Glu119ValfsTer61)	NC_000003.11:g.170584183_170584184del	VUS	1 lab	99cd94e6b9
16:53726089 RPGRIP1L G>A	16	53726089	53726089	G	A	RPGRIP1L	c.418C>T	NM_015272.4	NP_056087.2:p.(Leu140Phe)	NC_000016.9:g.53726089G>A	VUS	1 lab	99cf916fd0
6:170176650 ERMARD C>T	6	170176650	170176650	C	T	ERMARD	c.1620C>T	NM_018341.2	NP_060811.1:p.(Ser540=)	NC_000006.11:g.170176650C>T	(Likely) benign	1 lab	99cfbf9404
6:152201899 ESR1 G>C	6	152201899	152201899	G	C	ESR1	c.753G>C	NM_001122742.1	NP_001116214.1:p.(Met251Ile)	NC_000006.11:g.152201899G>C	VUS	1 lab	99d2165067
12:109698329 ACACB G>A	12	109698329	109698329	G	A	ACACB	c.6541G>A	NM_001093.3	NP_001084.3:p.(Gly2181Ser)	NC_000012.11:g.109698329G>A	(Likely) benign	1 lab	99d52e431c
4:39501800 UGDH C>T	4	39501800	39501800	C	T	UGDH	c.1448G>A	NM_003359.4	NP_003350.1:p.(Ser483Asn)	NC_000004.11:g.39501800C>T	VUS	1 lab	99d621f56a
2:27461368 CAD T>C	2	27461368	27461368	T	C	CAD	c.4930T>C	NM_004341.5	NP_004332.2:p.(Phe1644Leu)	NC_000002.11:g.27461368T>C	(Likely) benign	1 lab	ffa2533dfe
7:19156530 TWIST1 G>A	7	19156530	19156530	G	A	TWIST1	c.415C>T	NM_000474.3	NP_000465.1:p.(Pro139Ser)	NC_000007.13:g.19156530G>A	(Likely) pathogenic	1 lab	99db555c72
17:4849267 PFN1 T>A	17	4849267	4849267	T	A	PFN1	c.351A>T	NM_005022.3	NP_005013.1:p.(Glu117Asp)	NC_000017.10:g.4849267T>A	VUS	1 lab	edf3ea2668
3:142281761 ATR T>C	3	142281761	142281761	T	C	ATR	c.483A>G	NM_001184.3	NP_001175.2:p.(Arg161=)	NC_000003.11:g.142281761T>C	(Likely) benign	1 lab	99dd173f2b
8:61768682 CHD7 G>A	8	61768682	61768682	G	A	CHD7				NC_000008.10:g.61768682G>A	VUS	1 lab	bbcd1b05f8
3:184017090 PSMD2 G>A	3	184017090	184017090	G	A	PSMD2	c.36G>A	NM_002808.5	NP_002799.3:p.(Gln12=)	NC_000003.11:g.184017090G>A	(Likely) benign	1 lab	99e2befb29
17:27064400 NEK8 G>A	17	27064400	27064400	G	A	NEK8	c.695G>A	NM_178170.3	NP_835464.1:p.(Arg232His)	NC_000017.10:g.27064400G>A	VUS	1 lab	99e469eaf9
19:3976672 EEF2 G>A	19	3976672	3976672	G	A	EEF2	c.2457C>T	NM_001961.3	NP_001952.1:p.(Ile819=)	NC_000019.9:g.3976672G>A	(Likely) benign	1 lab	99e9c1637f
2:179453343 TTN G>A	2	179453343	179453343	G	A	TTN	c.63109C>T	NM_001267550.1	NP_001254479.1:p.(Arg21037Cys)	NC_000002.11:g.179453343G>A	(Likely) benign	1 lab	99ec4bae56
21:46924389 COL18A1 C>T	21	46924389	46924389	C	T	COL18A1	c.2787C>T	NM_130445.2	NP_569712.2:p.(Gly929=)	NC_000021.8:g.46924389C>T	(Likely) benign	1 lab	99ef8ced48
1:216405368 USH2A C>T	1	216405368	216405368	C	T	USH2A	c.2920G>A	NM_206933.2	NP_996816.2:p.(Asp974Asn)	NC_000001.10:g.216405368C>T	(Likely) benign	1 lab	99efd7111c
X:46359432 ZNF674 C>A	X	46359432	46359432	C	A	ZNF674	c.1592G>T	NM_001039891.2	NP_001034980.1:p.(Gly531Val)	NC_000023.10:g.46359432C>A	VUS	1 lab	99f021384f
16:774709 CCDC78 C>T	16	774709	774709	C	T	CCDC78	c.737G>A	NM_001031737.3	NP_001026907.2:p.(Arg246Gln)	NC_000016.9:g.774709C>T	(Likely) benign	1 lab	ffaa306623
10:81318649 SFTPA2 G>GCC	10	81318649	81318651	G	GCC	SFTPA2	c.283_284dup	NM_001098668.3	NP_001092138.1:p.(Pro96AlafsTer9)	NC_000010.10:g.81318650_81318651dup	VUS	1 lab	99f3eef6fd
11:110135550 RDX T>C	11	110135550	110135550	T	C	RDX	c.146A>G	NM_002906.3	NP_002897.1:p.(Tyr49Cys)	NC_000011.9:g.110135550T>C	VUS	1 lab	99f495a6a6
19:12991950 DNASE2 G>C	19	12991950	12991950	G	C	DNASE2	c.103C>G	NM_001375.3	NP_001366.1:p.(Leu35Val)	NC_000019.9:g.12991950G>C	VUS	1 lab	99f5431046
X:132670254 GPC3 G>A	X	132670254	132670254	G	A	GPC3	c.1710C>T	NM_001164617.1	NP_001158089.1:p.(Asn570=)	NC_000023.10:g.132670254G>A	(Likely) benign	1 lab	99f5b6016c
X:153792583 IKBKG C>T	X	153792583	153792583	C	T	IKBKG	c.1167C>T	NM_001099857.5	NP_001093327.1:p.(Pro389=)	NC_000023.10:g.153792583C>T	(Likely) benign	1 lab	ffaa789d03
6:44270894 AARS2 G>A	6	44270894	44270894	G	A	AARS2	c.2164C>T	NM_020745.3	NP_065796.1:p.(Arg722Trp)	NC_000006.11:g.44270894G>A	VUS	1 lab	99f65180f6
6:42672206 PRPH2 T>C	6	42672206	42672206	T	C	PRPH2	c.725A>G	NM_000322.4	NP_000313.2:p.(Glu242Gly)	NC_000006.11:g.42672206T>C	VUS	1 lab	99f65bf6d3
2:26695378 OTOF C>T	2	26695378	26695378	C	T	OTOF	c.3864+9G>A	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26695378C>T	(Likely) benign	1 lab	99f6cc0266
22:38155156 TRIOBP C>T	22	38155156	38155156	C	T	TRIOBP	c.6214-5C>T	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38155156C>T	(Likely) benign	1 lab	99f7dae6ac
11:134127029 ACAD8 C>T	11	134127029	134127029	C	T	ACAD8	c.258C>T	NM_014384.2	NP_055199.1:p.(Phe86=)	NC_000011.9:g.134127029C>T	(Likely) benign	1 lab	99f8f24216
14:73659456 PSEN1 C>T	14	73659456	73659456	C	T	PSEN1	c.653C>T	NM_000021.3	NP_000012.1:p.(Pro218Leu)	NC_000014.8:g.73659456C>T	(Likely) pathogenic	1 lab	99fa63bdb1
1:201869817 LMOD1 G>T	1	201869817	201869817	G	T	LMOD1	c.324C>A	NM_012134.3	NP_036266.2:p.(Ala108=)	NC_000001.10:g.201869817G>T	(Likely) benign	1 lab	99fadbad07
9:135772955 TSC1 T>A	9	135772955	135772955	T	A	TSC1	c.2668A>T	NM_000368.4	NP_000359.1:p.(Lys890Ter)	NC_000009.11:g.135772955T>A	(Likely) pathogenic	1 lab	99fb039fa4
13:103387767 LRTM3 C>T	13	103387767	103387767	C	T	LRTM3	c.15280G>A	NM_001146197.2	NP_001139669.1:p.(Val5094Met)	NC_000013.10:g.103387767C>T	(Likely) benign	1 lab	99fd83b0a5
5:112176654 APC G>A	5	112176654	112176654	G	A	APC				NC_000005.9:g.112176654G>A	VUS	1 lab	9a015708b5
10:27412531 YME1L1 G>A	10	27412531	27412531	G	A	YME1L1	c.1218C>T	NM_139312.2	NP_647473.1:p.(Ser406=)	NC_000010.10:g.27412531G>A	(Likely) benign	1 lab	9a018a1324
5:1414819 SLC6A3 G>A	5	1414819	1414819	G	A	SLC6A3	c.1143C>T	NM_001044.4	NP_001035.1:p.(Asp381=)	NC_000005.9:g.1414819G>A	(Likely) benign	1 lab	9a0360c966
10:118305598 PNLIP C>T	10	118305598	118305598	C	T	PNLIP	c.1-7C>T	NM_000936.3	NP_000927.1:p.?	NC_000010.10:g.118305598C>T	VUS	1 lab	9a04455f8c
16:53690387 RPGRIP1L CTA>C	16	53690387	53690389	CTA	C	RPGRIP1L	c.1694_1695del	NM_015272.5	NP_056087.2:p.(Leu565ArgfsTer17)	NC_000016.9:g.53690388_53690389del	(Likely) pathogenic	1 lab	9a0652cadb
11:118352793 KMT2A C>T	11	118352793	118352793	C	T	KMT2A	c.3998C>T	NM_001197104.1	NP_001184033.1:p.(Pro1333Leu)	NC_000011.9:g.118352793C>T	VUS	1 lab	9a078be3a1
13:52511519 ATP7B A>G	13	52511519	52511519	A	G	ATP7B	c.3914T>C	NM_000053.3	NP_000044.2:p.(Leu1305Pro)	NC_000013.10:g.52511519A>G	VUS	1 lab	9a09b829c9
2:230723706 TRIP12 T>C	2	230723706	230723706	T	C	TRIP12	c.809A>G	NM_001284214.1	NP_001271143.1:p.(Gln270Arg)	NC_000002.11:g.230723706T>C	VUS	1 lab	9a0af301a7
1:158590207 SPTA1 T>C	1	158590207	158590207	T	C	SPTA1	c.6170A>G	NM_003126.3	NP_003117.2:p.(Asn2057Ser)	NC_000001.10:g.158590207T>C	VUS	1 lab	9a0d5f4bae
14:102499504 DYNC1H1 A>G	14	102499504	102499504	A	G	DYNC1H1	c.10182A>G	NM_001376.4	NP_001367.2:p.(Lys3394=)	NC_000014.8:g.102499504A>G	(Likely) benign	1 lab	9a0e8fd449
X:152939453 PNCK C>T	X	152939453	152939453	C	T	PNCK	c.178G>A	NM_001039582.3	NP_001034671.3:p.(Ala60Thr)	NC_000023.10:g.152939453C>T	(Likely) benign	1 lab	9a0f4db03b
17:38955693 KRT28 C>T	17	38955693	38955693	C	T	KRT28	c.450+3G>A	NM_181535.3	NP_853513.2:p.?	NC_000017.10:g.38955693C>T	(Likely) benign	1 lab	9a0f89aaec
X:107911680 COL4A5 G>T	X	107911680	107911680	G	T	COL4A5	c.3736G>T	NM_033380.2	NP_203699.1:p.(Ala1246Ser)	NC_000023.10:g.107911680G>T	(Likely) benign	1 lab	9a0fda0841
5:1266595 TERT C>T	5	1266595	1266595	C	T	TERT	c.2638G>A	NM_198253.2	NP_937983.2:p.(Ala880Thr)	NC_000005.9:g.1266595C>T	(Likely) pathogenic	1 lab	9a10d50a3b
15:68504027 CLN6 T>G	15	68504027	68504027	T	G	CLN6	c.472A>C	NM_017882.2	NP_060352.1:p.(Lys158Gln)	NC_000015.9:g.68504027T>G	VUS	1 lab	9a112f3516
18:29118928 DSG2 T>C	18	29118928	29118928	T	C	DSG2	c.1866T>C	NM_001943.5	NP_001934.2:p.(Phe622=)	NC_000018.9:g.29118928T>C	(Likely) benign	1 lab	ffacf3f070
2:3660931 COLEC11 C>A	2	3660931	3660931	C	A	COLEC11	c.73C>A	NM_199235.2	NP_954705.1:p.(Pro25Thr)	NC_000002.11:g.3660931C>A	(Likely) benign	1 lab	9a13784766
9:27044752 IFT74 A>G	9	27044752	27044752	A	G	IFT74	c.1067A>G	NM_001349928.1	NP_001336857.1:p.(Gln356Arg)	NC_000009.11:g.27044752A>G	(Likely) benign	1 lab	9a1400f692
2:8888086 KIDINS220 G>A	2	8888086	8888086	G	A	KIDINS220	c.3459C>T	NM_020738.3	NP_065789.1:p.(Gly1153=)	NC_000002.11:g.8888086G>A	(Likely) benign	1 lab	9a16e7eaa2
11:45827606 SLC35C1 C>T	11	45827606	45827606	C	T	SLC35C1	c.254C>T	NM_018389.4	NP_060859.4:p.(Thr85Met)	NC_000011.9:g.45827606C>T	(Likely) benign	1 lab	9a19360e96
17:29679323 NF1 ATACC>A	17	29679323	29679328	ATACC	A	NF1	c.7508_7511del	NM_001042492.3	NP_001035957.1:p.(Tyr2503LeufsTer19)	NC_000017.10:g.29679325_29679328del	(Likely) pathogenic	1 lab	9a1b0622f2
2:172725306 SLC25A12 G>A	2	172725306	172725306	G	A	SLC25A12	c.94C>T	NM_003705.4	NP_003696.2:p.(Arg32Cys)	NC_000002.11:g.172725306G>A	VUS	1 lab	9a1bab2153
14:24617068 RNF31 C>T	14	24617068	24617068	C	T	RNF31	c.161C>T	NM_017999.5	NP_060469.4:p.(Ala54Val)	NC_000014.8:g.24617068C>T	(Likely) benign	1 lab	9a1ccfb02f
22:27003882 CRYBB1 G>A	22	27003882	27003882	G	A	CRYBB1	c.403C>T	NM_001887.4	NP_001878.1:p.(Arg135Trp)	NC_000022.10:g.27003882G>A	VUS	1 lab	9a1debcf5e
X:153588449 FLNA C>T	X	153588449	153588449	C	T	FLNA	c.3714G>A	NM_001110556.2	NP_001104026.1:p.(Gln1238=)	NC_000023.10:g.153588449C>T	(Likely) benign	1 lab	9a1f1e7146
14:61115753 SIX1 G>A	14	61115753	61115753	G	A	SIX1	c.155C>T	NM_005982.3	NP_005973.1:p.(Ala52Val)	NC_000014.8:g.61115753G>A	VUS	1 lab	9a21bea7e5
5:176715846 NSD1 C>G	5	176715846	176715846	C	G	NSD1	c.6178C>G	NM_022455.4	NP_071900.2:p.(Leu2060Val)	NC_000005.9:g.176715846C>G	VUS	1 lab	9a227efac7
15:90177056 KIF7 T>C	15	90177056	90177056	T	C	KIF7	c.2453A>G	NM_198525.2	NP_940927.2:p.(Glu818Gly)	NC_000015.9:g.90177056T>C	VUS	1 lab	9a2395683b
8:100182340 VPS13B C>A	8	100182340	100182340	C	A	VPS13B	c.2282C>A	NM_017890.4	NP_060360.3:p.(Pro761His)	NC_000008.10:g.100182340C>A	VUS	1 lab	9a23d2a585
8:145009450 PLEC G>A	8	145009450	145009450	G	A	PLEC	c.1045C>T	NM_201380.3	NP_958782.1:p.(Arg349Trp)	NC_000008.10:g.145009450G>A	VUS	1 lab	9a246107f7
5:149340385 SLC26A2 G>C	5	149340385	149340385	G	C	SLC26A2	c.-183G>C	NM_000112.3	NP_000103.2:p.?	NC_000005.9:g.149340385G>C	(Likely) benign	1 lab	9a25b1a3ef
12:54117482 CALCOCO1 AG>A	12	54117482	54117488	AG	A	CALCOCO1	c.344del	NM_020898.3	NP_065949.1:p.(Pro115LeufsTer14)	NC_000012.11:g.54117488del	VUS	1 lab	9a25e1cba4
17:29541484 NF1 GA>G	17	29541484	29541489	GA	G	NF1	c.1413del	NM_001042492.3	NP_001035957.1:p.(Val472Ter)	NC_000017.10:g.29541489del	(Likely) pathogenic	1 lab	9a262d9044
X:153005638 ABCD1 C>T	X	153005638	153005638	C	T	ABCD1	c.1581C>T	NM_000033.3	NP_000024.2:p.(Tyr527=)	NC_000023.10:g.153005638C>T	(Likely) benign	1 lab	9a2666b1e6
6:80223311 LCA5 T>C	6	80223311	80223311	T	C	LCA5	c.338A>G	NM_181714.3	NP_859065.2:p.(Asn113Ser)	NC_000006.11:g.80223311T>C	VUS	1 lab	9a27140d57
7:4824597 AP5Z1 C>T	7	4824597	4824597	C	T	AP5Z1	c.849C>T	NM_014855.3	NP_055670.1:p.(Ala283=)	NC_000007.13:g.4824597C>T	(Likely) benign	1 lab	9a2771dae3
19:55967743 ISOC2 G>C	19	55967743	55967743	G	C	ISOC2	c.111C>G	NM_024710.2	NP_078986.1:p.(Ile37Met)	NC_000019.9:g.55967743G>C	VUS	1 lab	9a27db3bf6
8:103323684 UBR5 T>G	8	103323684	103323684	T	G	UBR5	c.2459A>C	NM_015902.6	NP_056986.2:p.(Tyr820Ser)	NC_000008.10:g.103323684T>G	VUS	1 lab	ffb3bc7e01
2:15613457 NBAS C>T	2	15613457	15613457	C	T	NBAS	c.1614G>A	NM_015909.3	NP_056993.2:p.(Glu538=)	NC_000002.11:g.15613457C>T	(Likely) benign	1 lab	9a2c232f48
5:140741215 PCDHGB2 G>A	5	140741215	140741215	G	A	PCDHGB2	c.1513G>A	NM_018923.2	NP_061746.1:p.(Val505Met)	NC_000005.9:g.140741215G>A	VUS	1 lab	9a2cd0f554
7:103198516 RELN C>T	7	103198516	103198516	C	T	RELN	c.5530-20G>A	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103198516C>T	(Likely) benign	1 lab	9a2d14ac29
5:118835129 HSD17B4 A>G	5	118835129	118835129	A	G	HSD17B4	c.1165A>G	NM_001199291.2	NP_001186220.1:p.(Ile389Val)	NC_000005.9:g.118835129A>G	(Likely) benign	1 lab	9a2d8fa524
16:72994024 ZFHX3 G>A	16	72994024	72994024	G	A	ZFHX3	c.21C>T	NM_006885.3	NP_008816.3:p.(Pro7=)	NC_000016.9:g.72994024G>A	(Likely) benign	1 lab	9a3153727a
X:108636190 GUCY2F C>T	X	108636190	108636190	C	T	GUCY2F	c.2519G>A	NM_001522.2	NP_001513.2:p.(Arg840Gln)	NC_000023.10:g.108636190C>T	(Likely) benign	1 lab	9a316b05b4
1:10473125 PGD G>T	1	10473125	10473125	G	T	PGD	c.622G>T	NM_001304452.1	NP_001291381.1:p.(Glu208Ter)	NC_000001.10:g.10473125G>T	VUS	1 lab	9a323359d7
6:65622567 EYS T>C	6	65622567	65622567	T	C	EYS	c.2451A>G	NM_001142800.1	NP_001136272.1:p.(Pro817=)	NC_000006.11:g.65622567T>C	(Likely) benign	1 lab	9a347ccff7
19:17654372 NIBAN3 A>G	19	17654372	17654372	A	G	NIBAN3	c.1579A>G	NM_173544.4	NP_775815.2:p.(Ile527Val)	NC_000019.9:g.17654372A>G	VUS	1 lab	9a354e453b
12:49729891 C1QL4 C>T	12	49729891	49729891	C	T	C1QL4	c.370G>A	NM_001008223.2	NP_001008224.1:p.(Glu124Lys)	NC_000012.11:g.49729891C>T	VUS	1 lab	9a35849c08
5:177652360 PHYKPL C>G	5	177652360	177652360	C	G	PHYKPL	c.286G>C	NM_001278346.1	NP_001265275.1:p.(Asp96His)	NC_000005.9:g.177652360C>G	VUS	1 lab	9a3595976b
10:73269897 CDH23 C>T	10	73269897	73269897	C	T	CDH23	c.204C>T	NM_022124.5	NP_071407.4:p.(Gly68=)	NC_000010.10:g.73269897C>T	(Likely) benign	1 lab	9a35d9e2ce
15:84909379 GOLGA6L4 C>T	15	84909379	84909379	C	T	GOLGA6L4	c.1273C>T	NM_001267536.2	NP_001254465.2:p.(Gln425Ter)	NC_000015.9:g.84909379C>T	VUS	1 lab	9a3738384d
12:125298858 SCARB1 G>A	12	125298858	125298858	G	A	SCARB1	c.520C>T	NM_005505.5	NP_005496.4:p.(Arg174Cys)	NC_000012.11:g.125298858G>A	VUS	1 lab	ffb40b8e53
1:156838433 NTRK1 G>A	1	156838433	156838433	G	A	NTRK1	c.711G>A	NM_002529.3	NP_002520.2:p.(Thr237=)	NC_000001.10:g.156838433G>A	(Likely) benign	1 lab	9a3be0956c
2:109384474 RANBP2 A>AGAAGTTGAAGTGTCTAGCACATCT	2	109384474	109384501	A	AGAAGTTGAAGTGTCTAGCACATCT	RANBP2	c.7483_7506dup	NM_006267.4	NP_006258.3:p.(Val2495_Glu2502dup)	NC_000002.11:g.109384478_109384501dup	(Likely) benign	1 lab	9a3c0527b3
17:17699359 RAI1 C>G	17	17699359	17699359	C	G	RAI1	c.3097C>G	NM_030665.3	NP_109590.3:p.(Pro1033Ala)	NC_000017.10:g.17699359C>G	(Likely) benign	1 lab	9a3e0b4cf8
15:28377386 HERC2 G>A	15	28377386	28377386	G	A	HERC2	c.12430C>T	NM_004667.5	NP_004658.3:p.(Arg4144Cys)	NC_000015.9:g.28377386G>A	VUS	1 lab	9a3f7a2707
15:73615526 HCN4 A>G	15	73615526	73615526	A	G	HCN4	c.2908T>C	NM_005477.2	NP_005468.1:p.(Ser970Pro)	NC_000015.9:g.73615526A>G	VUS	1 lab	9a425324dd
X:48887989 TFE3 C>T	X	48887989	48887989	C	T	TFE3	c.1408G>A	NM_006521.5	NP_006512.2:p.(Gly470Ser)	NC_000023.10:g.48887989C>T	(Likely) benign	1 lab	9a432763e7
3:38591990 SCN5A C>A	3	38591990	38591990	C	A	SCN5A	c.5873G>T	NM_198056.2	NP_932173.1:p.(Arg1958Leu)	NC_000003.11:g.38591990C>A	VUS	1 lab	9a446e7aa5
15:74281584 STOML1 G>A	15	74281584	74281584	G	A	STOML1	c.255C>T	NM_004809.5	NP_004800.2:p.(Tyr85=)	NC_000015.9:g.74281584G>A	(Likely) benign	1 lab	9a459cd9c7
X:75649639 MAGEE1 C>A	X	75649639	75649639	C	A	MAGEE1	c.1316C>A	NM_020932.2	NP_065983.1:p.(Thr439Asn)	NC_000023.10:g.75649639C>A	(Likely) benign	1 lab	9a4eaa1599
7:21723431 DNAH11 G>A	7	21723431	21723431	G	A	DNAH11				NC_000007.13:g.21723431G>A	(Likely) benign	1 lab	9a45ff2ceb
2:220435497 OBSL1 C>T	2	220435497	220435497	C	T	OBSL1	c.458G>A	NM_015311.2	NP_056126.1:p.(Gly153Asp)	NC_000002.11:g.220435497C>T	VUS	1 lab	9a48567556
11:17190803 PIK3C2A G>A	11	17190803	17190803	G	A	PIK3C2A	c.486C>T	NM_001321378.1	NP_001308307.1:p.(Tyr162=)	NC_000011.9:g.17190803G>A	(Likely) benign	1 lab	9a499bb5fb
16:50744703 NOD2 C>G	16	50744703	50744703	C	G	NOD2	c.881C>G	NM_022162.1	NP_071445.1:p.(Thr294Ser)	NC_000016.9:g.50744703C>G	(Likely) benign	1 lab	9a4a3ede1d
18:50994347 DCC A>C	18	50994347	50994347	A	C	DCC	c.3703A>C	NM_005215.3	NP_005206.2:p.(Met1235Leu)	NC_000018.9:g.50994347A>C	VUS	1 lab	9a4a4215db
20:47569226 ARFGEF2 C>T	20	47569226	47569226	C	T	ARFGEF2	c.424-16C>T	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47569226C>T	(Likely) benign	1 lab	9a4b47f581
2:217347673 SMARCAL1 C>T	2	217347673	217347673	C	T	SMARCAL1	c.2838C>T	NM_014140.3	NP_054859.2:p.(Asn946=)	NC_000002.11:g.217347673C>T	(Likely) benign	1 lab	9a4d47ea83
1:152279308 FLG C>T	1	152279308	152279308	C	T	FLG	c.8054G>A	NM_002016.1	NP_002007.1:p.(Arg2685Gln)	NC_000001.10:g.152279308C>T	(Likely) benign	1 lab	9a4e15e119
11:64504449 RASGRP2 G>A	11	64504449	64504449	G	A	RASGRP2	c.871C>T	NM_153819.1	NP_722541.1:p.(Arg291Cys)	NC_000011.9:g.64504449G>A	VUS	1 lab	9a52ab6b46
6:149700277 TAB2 T>TA	6	149700277	149700278	T	TA	TAB2	c.1227dup	NM_015093.6	NP_055908.1:p.(Ser410IlefsTer37)	NC_000006.11:g.149700278dup	(Likely) pathogenic	1 lab	ffba4471c9
19:46520506 CCDC61 G>A	19	46520506	46520506	G	A	CCDC61	c.1312G>A	NM_001267723.2	NP_001254652.1:p.(Gly438Ser)	NC_000019.9:g.46520506G>A	(Likely) benign	1 lab	9a55896309
13:77459677 KCTD12 C>G	13	77459677	77459677	C	G	KCTD12	c.607G>C	NM_138444.3	NP_612453.1:p.(Gly203Arg)	NC_000013.10:g.77459677C>G	VUS	1 lab	9a5617c5d8
16:2134631 TSC2 C>CG	16	2134631	2134632	C	CG	TSC2	c.4409dup	NM_000548.3	NP_000539.2:p.(Arg1471GlnfsTer53)	NC_000016.9:g.2134632dup	(Likely) pathogenic	1 lab	9a56c1bf79
10:390982 DIP2C C>T	10	390982	390982	C	T	DIP2C	c.3300G>A	NM_014974.3	NP_055789.1:p.(Ala1100=)	NC_000010.10:g.390982C>T	(Likely) benign	1 lab	9a5980ad96
1:247607363 NLRP3 G>A	1	247607363	247607363	G	A	NLRP3	c.2753G>A	NM_001243133.1	NP_001230062.1:p.(Arg918Gln)	NC_000001.10:g.247607363G>A	(Likely) pathogenic	1 lab	9a59b62451
1:68910517 RPE65 C>T	1	68910517	68910517	C	T	RPE65	c.295G>A	NM_000329.2	NP_000320.1:p.(Val99Ile)	NC_000001.10:g.68910517C>T	VUS	1 lab	9a59d320cd
X:82764331 POU3F4 G>T	X	82764331	82764331	G	T	POU3F4	c.999G>T	NM_000307.4	NP_000298.3:p.(Glu333Asp)	NC_000023.10:g.82764331G>T	VUS	1 lab	9a5b2d1ebc
1:116247840 CASQ2 C>T	1	116247840	116247840	C	T	CASQ2	c.912G>A	NM_001232.3	NP_001223.2:p.(Leu304=)	NC_000001.10:g.116247840C>T	(Likely) benign	1 lab	9a5c05e064
1:152277021 FLG T>C	1	152277021	152277021	T	C	FLG	c.10341A>G	NM_002016.1	NP_002007.1:p.(Gly3447=)	NC_000001.10:g.152277021T>C	(Likely) benign	1 lab	9a5e135a0c
12:100797879 SLC17A8 T>C	12	100797879	100797879	T	C	SLC17A8	c.1117T>C	NM_139319.2	NP_647480.1:p.(Leu373=)	NC_000012.11:g.100797879T>C	(Likely) benign	1 lab	9a5e39f5f5
2:48941169 LHCGR T>C	2	48941169	48941169	T	C	LHCGR	c.561A>G	NM_000233.3	NP_000224.2:p.(Glu187=)	NC_000002.11:g.48941169T>C	(Likely) benign	1 lab	9a5f4c2699
16:71098642 HYDIN T>C	16	71098642	71098642	T	C	HYDIN	c.2177A>G	NM_001270974.2	NP_001257903.1:p.(Asp726Gly)	NC_000016.9:g.71098642T>C	(Likely) benign	1 lab	9a5fbe58b2
19:9059380 MUC16 G>A	19	9059380	9059380	G	A	MUC16	c.28066C>T	NM_024690.2	NP_078966.2:p.(Pro9356Ser)	NC_000019.9:g.9059380G>A	(Likely) benign	1 lab	9a6072186c
X:21675284 KLHL34 G>A	X	21675284	21675284	G	A	KLHL34	c.623C>T	NM_153270.2	NP_695002.1:p.(Pro208Leu)	NC_000023.10:g.21675284G>A	VUS	1 lab	9a609dce59
15:43695966 TUBGCP4 G>A	15	43695966	43695966	G	A	TUBGCP4	c.1820G>A	NM_001286414.2	NP_001273343.1:p.(Arg607His)	NC_000015.9:g.43695966G>A	VUS	1 lab	9a63190798
17:78082197 GAA T>C	17	78082197	78082197	T	C	GAA	c.1064T>C	NM_000152.3	NP_000143.2:p.(Leu355Pro)	NC_000017.10:g.78082197T>C	(Likely) pathogenic	1 lab	9a65831922
8:145641513 SLC39A4 A>G	8	145641513	145641513	A	G	SLC39A4	c.80T>C	NM_017767.2	NP_060237.2:p.(Val27Ala)	NC_000008.10:g.145641513A>G	(Likely) benign	1 lab	9a6ad2f6c4
3:183873424 DVL3 A>G	3	183873424	183873424	A	G	DVL3	c.1A>G	NM_004423.4	NP_004414.3:p.(Met1?)	NC_000003.11:g.183873424A>G	VUS	1 lab	9a6d461c99
15:28211841 OCA2 A>G	15	28211841	28211841	A	G	OCA2	c.1631T>C	NM_000275.2	NP_000266.2:p.(Ile544Thr)	NC_000015.9:g.28211841A>G	VUS	1 lab	9a6d4b3534
9:14859234 FREM1 G>C	9	14859234	14859234	G	C	FREM1	c.578C>G	NM_144966.5	NP_659403.4:p.(Pro193Arg)	NC_000009.11:g.14859234G>C	(Likely) benign	1 lab	9a6f05bf5d
2:234676941 UGT1A1 C>A	2	234676941	234676941	C	A	UGT1A1	c.1160C>A	NM_000463.2	NP_000454.1:p.(Pro387His)	NC_000002.11:g.234676941C>A	(Likely) pathogenic	1 lab	9a6f06b040
2:110901100 NPHP1 G>A	2	110901100	110901100	G	A	NPHP1	c.1697+19C>T	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110901100G>A	(Likely) benign	1 lab	9a6f21c55d
19:36269200 ARHGAP33 C>T	19	36269200	36269200	C	T	ARHGAP33	c.208C>T	NM_001366178.1	NP_001353107.1:p.(Arg70Cys)	NC_000019.9:g.36269200C>T	VUS	1 lab	9a6f902234
9:123234038 CDK5RAP2 G>A	9	123234038	123234038	G	A	CDK5RAP2	c.1846C>T	NM_018249.5	NP_060719.4:p.(Arg616Trp)	NC_000009.11:g.123234038G>A	VUS	1 lab	9a730f5870
1:94564537 ABCA4 C>G	1	94564537	94564537	C	G	ABCA4	c.581G>C	NM_000350.2	NP_000341.2:p.(Gly194Ala)	NC_000001.10:g.94564537C>G	VUS	1 lab	9a739e453e
1:176564684 PAPPA2 G>A	1	176564684	176564684	G	A	PAPPA2	c.1944G>A	NM_020318.2	NP_064714.2:p.(Gln648=)	NC_000001.10:g.176564684G>A	(Likely) benign	1 lab	9a73a14cd7
4:151827538 LRBA T>C	4	151827538	151827538	T	C	LRBA	c.1513A>G	NM_001199282.2	NP_001186211.2:p.(Ile505Val)	NC_000004.11:g.151827538T>C	(Likely) benign	1 lab	9a73c400a6
X:153780301 IKBKG C>A	X	153780301	153780301	C	A	IKBKG	c.84C>A	NM_001099857.2	NP_001093327.1:p.(Gly28=)	NC_000023.10:g.153780301C>A	(Likely) benign	1 lab	9a76f0b2f5
X:153735152 FAM3A G>A	X	153735152	153735152	G	A	FAM3A	c.725C>T	NM_001282311.1	NP_001269240.1:p.(Thr242Met)	NC_000023.10:g.153735152G>A	(Likely) benign	1 lab	9a78822252
2:179430998 TTN T>C	2	179430998	179430998	T	C	TTN	c.79861A>G	NM_001267550.1	NP_001254479.1:p.(Thr26621Ala)	NC_000002.11:g.179430998T>C	VUS	1 lab	9a78c4df81
17:29527558 NF1 G>A	17	29527558	29527558	G	A	NF1	c.1007G>A	NM_000267.3	NP_000258.1:p.(Trp336Ter)	NC_000017.10:g.29527558G>A	(Likely) pathogenic	1 lab	9a7a8bcedd
6:10626684 GCNT2 C>T	6	10626684	10626684	C	T	GCNT2	c.1047C>T	NM_001491.2	NP_001482.1:p.(Asn349=)	NC_000006.11:g.10626684C>T	(Likely) benign	1 lab	9a7a967b54
6:143091026 HIVEP2 C>G	6	143091026	143091026	C	G	HIVEP2	c.4850G>C	NM_006734.4	NP_006725.3:p.(Gly1617Ala)	NC_000006.11:g.143091026C>G	VUS	1 lab	ffc31be6c4
7:121659267 PTPRZ1 T>A	7	121659267	121659267	T	A	PTPRZ1	c.4933T>A	NM_002851.2	NP_002842.2:p.(Ser1645Thr)	NC_000007.13:g.121659267T>A	VUS	1 lab	9a7c9dd16a
6:131220673 EPB41L2 T>C	6	131220673	131220673	T	C	EPB41L2	c.1194A>G	NM_001350299.1	NP_001337228.1:p.(Ala398=)	NC_000006.11:g.131220673T>C	(Likely) benign	1 lab	9a7cfbbb33
X:71357054 NHSL2 A>G	X	71357054	71357054	A	G	NHSL2	c.871A>G	NM_001013627.2	NP_001013649.2:p.(Asn291Asp)	NC_000023.10:g.71357054A>G	(Likely) benign	1 lab	9a7e1c88bf
7:3991496 SDK1 C>T	7	3991496	3991496	C	T	SDK1	c.1094C>T	NM_152744.3	NP_689957.3:p.(Ala365Val)	NC_000007.13:g.3991496C>T	(Likely) benign	1 lab	9a7edff584
13:110815789 COL4A1 G>A	13	110815789	110815789	G	A	COL4A1	c.4249+21C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110815789G>A	(Likely) benign	1 lab	9a826850de
15:62306142 VPS13C A>G	15	62306142	62306142	A	G	VPS13C	c.734T>C	NM_001018088.2	NP_001018098.1:p.(Ile245Thr)	NC_000015.9:g.62306142A>G	VUS	1 lab	9a8433e49e
15:57554298 TCF12 A>G	15	57554298	57554298	A	G	TCF12	c.1474A>G	NM_207037.1	NP_996920.1:p.(Thr492Ala)	NC_000015.9:g.57554298A>G	(Likely) benign	1 lab	9a857eb877
3:48508555 TREX1 C>T	3	48508555	48508555	C	T	TREX1	c.471C>T	NM_007248.4	NP_009179.2:p.(Ser157=)	NC_000003.11:g.48508555C>T	(Likely) benign	1 lab	9a875d812e
10:103825343 HPS6 C>G	10	103825343	103825343	C	G	HPS6	c.112C>G	NM_024747.5	NP_079023.2:p.(Pro38Ala)	NC_000010.10:g.103825343C>G	VUS	1 lab	9a87c160f3
12:111948320 ATXN2 G>C	12	111948320	111948320	G	C	ATXN2	c.2105C>G	NM_002973.3	NP_002964.3:p.(Pro702Arg)	NC_000012.11:g.111948320G>C	VUS	1 lab	9a88b8e207
13:103528202 ERCC5 G>A	13	103528202	103528202	G	A	ERCC5	c.3510G>A	NM_000123.3	NP_000114.2:p.(Gly1170=)	NC_000013.10:g.103528202G>A	(Likely) benign	1 lab	9a8a3a1c86
10:75397583 MYOZ1 G>A	10	75397583	75397583	G	A	MYOZ1	c.171C>T	NM_021245.3	NP_067068.1:p.(Ser57=)	NC_000010.10:g.75397583G>A	(Likely) benign	1 lab	9a8aad29b4
1:156085048 LMNA T>C	1	156085048	156085048	T	C	LMNA				NC_000001.10:g.156085048T>C	(Likely) benign	1 lab	9a8ac26110
17:29664581 NF1 C>G	17	29664581	29664581	C	G	NF1	c.6560C>G	NM_000267.3	NP_000258.1:p.(Ala2187Gly)	NC_000017.10:g.29664581C>G	VUS	1 lab	9a8b290eda
5:70805707 BDP1 G>A	5	70805707	70805707	G	A	BDP1	c.2788G>A	NM_018429.2	NP_060899.2:p.(Glu930Lys)	NC_000005.9:g.70805707G>A	(Likely) benign	1 lab	9a8e0a36f9
11:111781050 CRYAB C>A	11	111781050	111781050	C	A	CRYAB	c.324+1G>T	NM_001885.2	NP_001876.1:p.?	NC_000011.9:g.111781050C>A	(Likely) pathogenic	1 lab	9a8e4790b9
2:88890531 EIF2AK3 A>G	2	88890531	88890531	A	G	EIF2AK3	c.807T>C	NM_004836.6	NP_004827.4:p.(Ile269=)	NC_000002.11:g.88890531A>G	(Likely) benign	1 lab	9a8e74eb48
11:120322348 ARHGEF12 C>T	11	120322348	120322348	C	T	ARHGEF12	c.1971C>T	NM_015313.2	NP_056128.1:p.(Asp657=)	NC_000011.9:g.120322348C>T	(Likely) benign	1 lab	9a8e82013a
14:74764664 ABCD4 G>A	14	74764664	74764664	G	A	ABCD4	c.394C>T	NM_005050.3	NP_005041.1:p.(Leu132Phe)	NC_000014.8:g.74764664G>A	VUS	1 lab	9a8e846e5c
19:46214975 FBXO46 G>C	19	46214975	46214975	G	C	FBXO46	c.1779C>G	NM_001329632.1	NP_001316561.1:p.(Gly593=)	NC_000019.9:g.46214975G>C	(Likely) benign	1 lab	9a8ea7b0af
13:99100506 FARP1 C>T	13	99100506	99100506	C	T	FARP1	c.3073C>T	NM_005766.3	NP_005757.1:p.(Arg1025Cys)	NC_000013.10:g.99100506C>T	VUS	1 lab	9a8eafbda6
1:42047227 HIVEP3 G>A	1	42047227	42047227	G	A	HIVEP3	c.3242C>T	NM_024503.4	NP_078779.2:p.(Ala1081Val)	NC_000001.10:g.42047227G>A	(Likely) benign	1 lab	9a8f50ed11
14:96772075 ATG2B G>A	14	96772075	96772075	G	A	ATG2B	c.4584C>T	NM_018036.6	NP_060506.5:p.(Pro1528=)	NC_000014.8:g.96772075G>A	(Likely) benign	1 lab	9a8fbb2b35
16:16263698 ABCC6 C>G	16	16263698	16263698	C	G	ABCC6	c.2458G>C	NM_001351800.1	NP_001338729.1:p.(Val820Leu)	NC_000016.9:g.16263698C>G	VUS	1 lab	9a902cac93
19:54687437 MBOAT7 TGA>T	19	54687437	54687440	TGA	T	MBOAT7	c.458_459del	NM_024298.5	NP_077274.3:p.(Leu153GlnfsTer142)	NC_000019.9:g.54687439_54687440del	VUS	1 lab	9a903d3e79
2:179447065 TTN C>T	2	179447065	179447065	C	T	TTN	c.66118G>A	NM_001267550.1	NP_001254479.1:p.(Asp22040Asn)	NC_000002.11:g.179447065C>T	VUS	1 lab	9a92bf1e8a
17:76129985 TMC8 G>A	17	76129985	76129985	G	A	TMC8	c.720G>A	NM_152468.4	NP_689681.2:p.(Ala240=)	NC_000017.10:g.76129985G>A	(Likely) benign	1 lab	9a933222b2
19:54629956 PRPF31 C>T	19	54629956	54629956	C	T	PRPF31	c.909C>T	NM_015629.3	NP_056444.3:p.(Ala303=)	NC_000019.9:g.54629956C>T	(Likely) benign	1 lab	9a9556da59
X:128703272 OCRL C>T	X	128703272	128703272	C	T	OCRL	c.1498C>T	NM_000276.3	NP_000267.2:p.(Arg500Ter)	NC_000023.10:g.128703272C>T	(Likely) pathogenic	1 lab	9a96db65a9
2:166231298 SCN2A T>C	2	166231298	166231298	T	C	SCN2A	c.4076T>C	NM_021007.3	NP_066287.2:p.(Phe1359Ser)	NC_000002.11:g.166231298T>C	VUS	1 lab	ffc71437a5
15:81517756 IL16 C>T	15	81517756	81517756	C	T	IL16	c.16C>T	NM_001172128.1	NP_001165599.1:p.(Arg6Cys)	NC_000015.9:g.81517756C>T	VUS	1 lab	9a97cace57
19:6821668 VAV1 G>A	19	6821668	6821668	G	A	VAV1	c.357G>A	NM_005428.4	NP_005419.2:p.(Pro119=)	NC_000019.9:g.6821668G>A	(Likely) benign	1 lab	9a999f8435
11:17631855 OTOG C>T	11	17631855	17631855	C	T	OTOG	c.5044C>T	NM_001277269.1	NP_001264198.1:p.(Pro1682Ser)	NC_000011.9:g.17631855C>T	VUS	1 lab	9a99efb05c
17:18024920 MYO15A A>C	17	18024920	18024920	A	C	MYO15A	c.2806A>C	NM_016239.3	NP_057323.3:p.(Thr936Pro)	NC_000017.10:g.18024920A>C	(Likely) benign	1 lab	9a9b131cfe
16:23634285 PALB2 C>A	16	23634285	23634285	C	A	PALB2	c.2996+5G>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23634285C>A	(Likely) pathogenic	1 lab	ffcdcb3731
19:39087094 MAP4K1 G>A	19	39087094	39087094	G	A	MAP4K1	c.1974C>T	NM_007181.5	NP_009112.1:p.(Ser658=)	NC_000019.9:g.39087094G>A	(Likely) benign	1 lab	9a9b54cd1a
X:77267105 ATP7A G>T	X	77267105	77267105	G	T	ATP7A	c.2106G>T	NM_000052.6	NP_000043.4:p.(Glu702Asp)	NC_000023.10:g.77267105G>T	(Likely) benign	1 lab	9a9bd3e718
6:33154496 COL11A2 G>A	6	33154496	33154496	G	A	COL11A2	c.706C>T	NM_080680.2	NP_542411.2:p.(Pro236Ser)	NC_000006.11:g.33154496G>A	(Likely) benign	1 lab	9a9bf47b38
8:42275477 SLC20A2 C>G	8	42275477	42275477	C	G	SLC20A2	c.1803G>C	NM_001257180.2	NP_001244109.1:p.(Ser601=)	NC_000008.10:g.42275477C>G	(Likely) benign	1 lab	9a9ce84f5e
22:18900884 PRODH G>A	22	18900884	18900884	G	A	PRODH	c.1616-9C>T	NM_016335.4	NP_057419.4:p.?	NC_000022.10:g.18900884G>A	(Likely) benign	1 lab	9a9fde9604
11:9166629 DENND5A T>C	11	9166629	9166629	T	C	DENND5A	c.2747A>G	NM_001348750.1	NP_001335679.1:p.(Gln916Arg)	NC_000011.9:g.9166629T>C	VUS	1 lab	9aa0838efb
8:109001427 RSPO2 G>A	8	109001427	109001427	G	A	RSPO2	c.140C>T	NM_178565.5	NP_848660.3:p.(Ser47Leu)	NC_000008.10:g.109001427G>A	VUS	1 lab	9aa085ae25
3:52410004 DNAH1 G>A	3	52410004	52410004	G	A	DNAH1	c.7193G>A	NM_015512.4	NP_056327.4:p.(Arg2398His)	NC_000003.11:g.52410004G>A	(Likely) benign	1 lab	9aa1800fde
7:26412135 SNX10 T>C	7	26412135	26412135	T	C	SNX10	c.627T>C	NM_001318198.1	NP_001305127.1:p.(Ser209=)	NC_000007.13:g.26412135T>C	(Likely) benign	1 lab	9aa3b30eec
3:193361380 OPA1 A>T	3	193361380	193361380	A	T	OPA1	c.1441A>T	NM_130837.2	NP_570850.2:p.(Met481Leu)	NC_000003.11:g.193361380A>T	VUS	1 lab	9aa552a0b1
3:69813078 MITF G>A	3	69813078	69813078	G	A	MITF	c.86G>A	NM_006722.2	NP_006713.1:p.(Cys29Tyr)	NC_000003.11:g.69813078G>A	(Likely) benign	1 lab	9aa56b6db0
X:77284879 ATP7A GGA>AGG	X	77284879	77284881	GGA	AGG	ATP7A	c.3049_3051delinsAGG	NM_000052.6	NP_000043.4:p.(Gly1017Arg)	NC_000023.10:g.77284879_77284881delinsAGG	VUS	1 lab	9aa595d35c
X:77301117 ATP7A A>G	X	77301117	77301117	A	G	ATP7A	c.4226+48A>G	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77301117A>G	(Likely) benign	1 lab	9aa5c27f80
19:44065097 XRCC1 T>C	19	44065097	44065097	T	C	XRCC1	c.220A>G	NM_006297.2	NP_006288.2:p.(Ser74Gly)	NC_000019.9:g.44065097T>C	(Likely) benign	1 lab	9aa7483826
X:17739759 NHS G>A	X	17739759	17739759	G	A	NHS	c.1108+6G>A	NM_001291867.1	NP_001278796.1:p.?	NC_000023.10:g.17739759G>A	(Likely) benign	1 lab	9aa9537f2a
9:135776203 TSC1 G>A	9	135776203	135776203	G	A	TSC1	c.2524C>T	NM_000368.4	NP_000359.1:p.(Gln842Ter)	NC_000009.11:g.135776203G>A	(Likely) pathogenic	1 lab	9aa9a3a589
7:16415775 CRPPA C>G	7	16415775	16415775	C	G	CRPPA	c.626G>C	NM_001101426.3	NP_001094896.1:p.(Arg209Thr)	NC_000007.13:g.16415775C>G	VUS	1 lab	9aaa9c6e9e
10:85968522 CDHR1 C>A	10	85968522	85968522	C	A	CDHR1	c.1205C>A	NM_033100.4	NP_149091.1:p.(Pro402His)	NC_000010.10:g.85968522C>A	VUS	1 lab	9aaab3ea7f
16:46694377 VPS35 T>C	16	46694377	46694377	T	C	VPS35	c.*7A>G	NM_018206.5	NP_060676.2:p.?	NC_000016.9:g.46694377T>C	(Likely) benign	1 lab	9aab3e59ae
3:48899969 SLC25A20 G>A	3	48899969	48899969	G	A	SLC25A20	c.535+6C>T	NM_000387.5	NP_000378.1:p.?	NC_000003.11:g.48899969G>A	(Likely) benign	1 lab	9aac4ff974
6:121768533 GJA1 C>T	6	121768533	121768533	C	T	GJA1	c.540C>T	NM_000165.5	NP_000156.1:p.(Ser180=)	NC_000006.11:g.121768533C>T	(Likely) benign	1 lab	9aaf0d81b3
20:47645166 ARFGEF2 G>A	20	47645166	47645166	G	A	ARFGEF2	c.5024G>A	NM_006420.2	NP_006411.2:p.(Arg1675His)	NC_000020.10:g.47645166G>A	VUS	1 lab	9aaf18f5f2
7:73474233 ELN G>A	7	73474233	73474233	G	A	ELN	c.1519G>A	NM_001278939.1	NP_001265868.1:p.(Gly507Ser)	NC_000007.13:g.73474233G>A	VUS	1 lab	9ab04c44d2
7:1539176 INTS1 G>A	7	1539176	1539176	G	A	INTS1	c.777C>T	NM_001080453.3	NP_001073922.2:p.(Thr259=)	NC_000007.13:g.1539176G>A	(Likely) benign	1 lab	9ab16652be
X:16170653 GRPR G>A	X	16170653	16170653	G	A	GRPR	c.1040G>A	NM_005314.2	NP_005305.1:p.(Arg347Gln)	NC_000023.10:g.16170653G>A	VUS	1 lab	9ab17083f2
16:70305763 AARS1 G>A	16	70305763	70305763	G	A	AARS1	c.592C>T	NM_001605.3	NP_001596.2:p.(Arg198Trp)	NC_000016.9:g.70305763G>A	VUS	1 lab	ffcec74ee4
X:73751196 SLC16A2 C>T	X	73751196	73751196	C	T	SLC16A2	c.1428C>T	NM_006517.4	NP_006508.2:p.(Tyr476=)	NC_000023.10:g.73751196C>T	(Likely) benign	1 lab	9ab17fbc06
17:4926868 KIF1C C>T	17	4926868	4926868	C	T	KIF1C	c.2734C>T	NM_006612.5	NP_006603.2:p.(Arg912Trp)	NC_000017.10:g.4926868C>T	VUS	1 lab	9ab1834cca
17:40476723 STAT3 G>A	17	40476723	40476723	G	A	STAT3	c.1600+6C>T	NM_139276.2	NP_644805.1:p.?	NC_000017.10:g.40476723G>A	(Likely) benign	1 lab	9ab3a1d27d
X:29973267 IL1RAPL1 T>G	X	29973267	29973267	T	G	IL1RAPL1	c.1421T>G	NM_014271.3	NP_055086.1:p.(Ile474Ser)	NC_000023.10:g.29973267T>G	VUS	1 lab	9ab4542bef
X:29935595 IL1RAPL1 C>G	X	29935595	29935595	C	G	IL1RAPL1	c.793C>G	NM_014271.3	NP_055086.1:p.(Leu265Val)	NC_000023.10:g.29935595C>G	VUS	1 lab	9ab490c1de
20:33575963 MYH7B CAT>C	20	33575963	33575965	CAT	C	MYH7B	c.1486_1487del	NM_020884.7	NP_065935.4:p.(Met496ValfsTer23)	NC_000020.10:g.33575964_33575965del	VUS	1 lab	9ab5681def
4:6610916 MAN2B2 G>A	4	6610916	6610916	G	A	MAN2B2	c.1897G>A	NM_015274.3	NP_056089.1:p.(Asp633Asn)	NC_000004.11:g.6610916G>A	VUS	1 lab	ffd05d97fb
1:161139763 PPOX G>A	1	161139763	161139763	G	A	PPOX	c.450G>A	NM_001350130.1	NP_001337059.1:p.(Val150=)	NC_000001.10:g.161139763G>A	(Likely) benign	1 lab	9ab65e1f4d
14:64542724 SYNE2 G>A	14	64542724	64542724	G	A	SYNE2	c.10928G>A	NM_182914.2	NP_878918.2:p.(Arg3643Gln)	NC_000014.8:g.64542724G>A	VUS	1 lab	9ab8eefc26
16:15847282 MYH11 G>A	16	15847282	15847282	G	A	MYH11	c.1854C>T	NM_001040113.1	NP_001035202.1:p.(Ser618=)	NC_000016.9:g.15847282G>A	(Likely) benign	1 lab	9aba4c9266
11:17483201 ABCC8 C>T	11	17483201	17483201	C	T	ABCC8	c.751G>A	NM_001287174.1	NP_001274103.1:p.(Gly251Arg)	NC_000011.9:g.17483201C>T	VUS	1 lab	9aba5e278b
17:76522783 DNAH17 C>T	17	76522783	76522783	C	T	DNAH17	c.3661G>A	NM_173628.3	NP_775899.3:p.(Glu1221Lys)	NC_000017.10:g.76522783C>T	(Likely) benign	1 lab	9aba5f127e
17:29687502 NF1 C>T	17	29687502	29687502	C	T	NF1	c.8098-3C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29687502C>T	(Likely) benign	1 lab	9abb42b449
16:11118721 CLEC16A G>C	16	11118721	11118721	G	C	CLEC16A	c.1480G>C	NM_015226.2	NP_056041.1:p.(Asp494His)	NC_000016.9:g.11118721G>C	VUS	1 lab	9abd9a8f55
3:123452547 MYLK C>G	3	123452547	123452547	C	G	MYLK	c.1296G>C	NM_053025.3	NP_444253.3:p.(Lys432Asn)	NC_000003.11:g.123452547C>G	VUS	1 lab	9abf88d5bc
17:78086699 GAA G>T	17	78086699	78086699	G	T	GAA	c.1913G>T	NM_000152.3	NP_000143.2:p.(Gly638Val)	NC_000017.10:g.78086699G>T	(Likely) pathogenic	1 lab	9ac1cd8d79
11:63719709 NAA40 G>A	11	63719709	63719709	G	A	NAA40	c.93-1G>A	NM_001300800.1	NP_001287729.1:p.?	NC_000011.9:g.63719709G>A	VUS	1 lab	9ac43b5fa4
1:231856738 DISC1 T>C	1	231856738	231856738	T	C	DISC1	c.1163T>C	NM_001164550.1	NP_001158022.1:p.(Leu388Pro)	NC_000001.10:g.231856738T>C	VUS	1 lab	9ac4ad63b3
X:73960734 NEXMIF G>A	X	73960734	73960734	G	A	NEXMIF	c.3658C>T	NM_001008537.2	NP_001008537.1:p.(Pro1220Ser)	NC_000023.10:g.73960734G>A	VUS	1 lab	9ac63f29fa
10:55568865 PCDH15 CTG>C	10	55568865	55568869	CTG	C	PCDH15	c.4671+1449_4671+1450del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55568868_55568869del	(Likely) pathogenic	1 lab	9ac69d6bcf
12:7843061 GDF3 G>A	12	7843061	7843061	G	A	GDF3	c.508C>T	NM_020634.2	NP_065685.1:p.(Arg170Trp)	NC_000012.11:g.7843061G>A	VUS	1 lab	9ac728e2dc
7:151945228 KMT2C G>A	7	151945228	151945228	G	A	KMT2C	c.2291C>T	NM_170606.3	NP_733751.2:p.(Ser764Phe)	NC_000007.13:g.151945228G>A	(Likely) benign	1 lab	ffdd6877ac
17:29422377 NF1 T>C	17	29422377	29422377	T	C	NF1	c.50T>C	NM_000267.3	NP_000258.1:p.(Phe17Ser)	NC_000017.10:g.29422377T>C	VUS	1 lab	9acd0c542e
10:79396757 KCNMA1 C>T	10	79396757	79396757	C	T	KCNMA1	c.386G>A	NM_001271520.1	NP_001258449.1:p.(Trp129Ter)	NC_000010.10:g.79396757C>T	VUS	1 lab	9ace0cf8c2
17:76130534 TMC8 G>A	17	76130534	76130534	G	A	TMC8	c.876G>A	NM_152468.4	NP_689681.2:p.(Thr292=)	NC_000017.10:g.76130534G>A	(Likely) benign	1 lab	9ace41d568
X:70351467 MED12 A>G	X	70351467	70351467	A	G	MED12	c.4115A>G	NM_005120.2	NP_005111.2:p.(Asn1372Ser)	NC_000023.10:g.70351467A>G	(Likely) benign	1 lab	9ace7d5fc1
8:77764518 ZFHX4 C>T	8	77764518	77764518	C	T	ZFHX4	c.5361C>T	NM_024721.4	NP_078997.4:p.(His1787=)	NC_000008.10:g.77764518C>T	(Likely) benign	1 lab	9ace8e3ecc
17:29556994 NF1 T>A	17	29556994	29556994	T	A	NF1	c.2990+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556994T>A	(Likely) pathogenic	1 lab	9acebdf190
2:233599904 GIGYF2 A>C	2	233599904	233599904	A	C	GIGYF2	c.-4A>C	NM_001103147.1	NP_001096617.1:p.?	NC_000002.11:g.233599904A>C	(Likely) benign	1 lab	9acf3ddd8d
20:4680472 PRNP C>T	20	4680472	4680472	C	T	PRNP	c.606C>T	NM_000311.4	NP_000302.1:p.(Asp202=)	NC_000020.10:g.4680472C>T	(Likely) benign	1 lab	9acfe009a7
10:121436600 BAG3 C>T	10	121436600	121436600	C	T	BAG3	c.1534C>T	NM_004281.3	NP_004272.2:p.(Pro512Ser)	NC_000010.10:g.121436600C>T	VUS	1 lab	9ad6588cbe
2:228563630 SLC19A3 T>C	2	228563630	228563630	T	C	SLC19A3	c.801A>G	NM_025243.3	NP_079519.1:p.(Gln267=)	NC_000002.11:g.228563630T>C	(Likely) benign	1 lab	9ad6e1d234
1:16464612 EPHA2 G>T	1	16464612	16464612	G	T	EPHA2	c.1048C>A	NM_004431.4	NP_004422.2:p.(Pro350Thr)	NC_000001.10:g.16464612G>T	VUS	1 lab	9ad79d29e2
19:38631818 SIPA1L3 C>A	19	38631818	38631818	C	A	SIPA1L3	c.3144-6C>A	NM_015073.2	NP_055888.1:p.?	NC_000019.9:g.38631818C>A	(Likely) benign	1 lab	9ad88f876b
13:20797013 GJB6 T>C	13	20797013	20797013	T	C	GJB6	c.607A>G	NM_006783.4	NP_006774.2:p.(Met203Val)	NC_000013.10:g.20797013T>C	(Likely) benign	1 lab	9adb2b4e9f
11:118963185 HMBS C>CGAGACTCTGCTTCGCTGCAT	11	118963185	118963205	C	CGAGACTCTGCTTCGCTGCAT	HMBS	c.724_743dup	NM_000190.4	NP_000181.2:p.(Ile248MetfsTer14)	NC_000011.9:g.118963186_118963205dup	(Likely) pathogenic	1 lab	9adb5d8554
11:2189185 TH G>C	11	2189185	2189185	G	C	TH	c.670-22C>G	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2189185G>C	(Likely) benign	1 lab	9adc5e622b
1:152190190 HRNR C>T	1	152190190	152190190	C	T	HRNR	c.3915G>A	NM_001009931.2	NP_001009931.1:p.(Gly1305=)	NC_000001.10:g.152190190C>T	(Likely) benign	1 lab	9adcd2a80a
2:234681090 UGT1A1 TG>T	2	234681090	234681092	TG	T	UGT1A1	c.1489del	NM_000463.3	NP_000454.1:p.(Ala497ProfsTer4)	NC_000002.11:g.234681092del	(Likely) pathogenic	1 lab	9adcdbd6c3
17:29663396 NF1 A>G	17	29663396	29663396	A	G	NF1	c.5989A>G	NM_000267.3	NP_000258.1:p.(Ser1997Gly)	NC_000017.10:g.29663396A>G	VUS	1 lab	9ae066ce21
4:79396631 FRAS1 G>A	4	79396631	79396631	G	A	FRAS1	c.7722G>A	NM_025074.7	NP_079350.5:p.(Thr2574=)	NC_000004.11:g.79396631G>A	(Likely) benign	1 lab	9ae0a576aa
X:73960239 NEXMIF A>C	X	73960239	73960239	A	C	NEXMIF	c.4153T>G	NM_001008537.2	NP_001008537.1:p.(Ser1385Ala)	NC_000023.10:g.73960239A>C	(Likely) benign	1 lab	9ae13e9ea5
10:89621773 KLLN C>A	10	89621773	89621773	C	A	KLLN	c.472G>T	NM_001126049.1	NP_001119521.1:p.(Gly158Trp)	NC_000010.10:g.89621773C>A	VUS	1 lab	9ae17295f2
1:61798203 NFIA C>T	1	61798203	61798203	C	T	NFIA	c.645C>T	NM_005595.4	NP_005586.1:p.(Asp215=)	NC_000001.10:g.61798203C>T	(Likely) benign	1 lab	9ae1a6f094
14:55510996 SOCS4 T>C	14	55510996	55510996	T	C	SOCS4	c.1237T>C	NM_199421.2	NP_955453.1:p.(Ser413Pro)	NC_000014.8:g.55510996T>C	(Likely) benign	1 lab	9ae23f7c6a
3:71804087 GPR27 T>C	3	71804087	71804087	T	C	GPR27	c.887T>C	NM_018971.2	NP_061844.1:p.(Leu296Pro)	NC_000003.11:g.71804087T>C	VUS	1 lab	9ae280821a
7:128493797 FLNC C>T	7	128493797	128493797	C	T	FLNC	c.6390C>T	NM_001458.4	NP_001449.3:p.(Gly2130=)	NC_000007.13:g.128493797C>T	VUS	1 lab	9ae28c1e7e
10:55568972 PCDH15 T>G	10	55568972	55568972	T	G	PCDH15	c.4853A>C	NM_001142769.3	NP_001136241.1:p.(Glu1618Ala)	NC_000010.10:g.55568972T>G	(Likely) benign	1 lab	ffe822884b
22:29091842 CHEK2 G>C	22	29091842	29091842	G	C	CHEK2	c.1115C>G	NM_007194.4	NP_009125.1:p.(Ser372Cys)	NC_000022.10:g.29091842G>C	VUS	1 lab	9ae51701e1
17:29592353 NF1 C>T	17	29592353	29592353	C	T	NF1	c.4768C>T	NM_000267.3	NP_000258.1:p.(Arg1590Trp)	NC_000017.10:g.29592353C>T	VUS	1 lab	9ae51f01f8
X:153648606 TAFAZZIN G>T	X	153648606	153648606	G	T	TAFAZZIN	c.711+3G>T	NM_001303465.1	NP_001290394.1:p.?	NC_000023.10:g.153648606G>T	VUS	1 lab	9ae6466d67
18:56202059 ALPK2 A>G	18	56202059	56202059	A	G	ALPK2	c.5353+7T>C	NM_052947.4	NP_443179.3:p.?	NC_000018.9:g.56202059A>G	(Likely) benign	1 lab	9ae76d026d
19:36585111 WDR62 CAT>C	19	36585111	36585113	CAT	C	WDR62	c.2467+46_2467+47del	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36585112_36585113del	(Likely) benign	1 lab	9ae9629fd0
12:50744420 FAM186A G>T	12	50744420	50744420	G	T	FAM186A	c.6195C>A	NM_001145475.2	NP_001138947.1:p.(Tyr2065Ter)	NC_000012.11:g.50744420G>T	VUS	1 lab	9aea27e754
20:39794133 PLCG1 A>G	20	39794133	39794133	A	G	PLCG1	c.1553A>G	NM_002660.2	NP_002651.2:p.(Tyr518Cys)	NC_000020.10:g.39794133A>G	VUS	1 lab	9aec6b6a3e
9:847152 DMRT1 G>A	9	847152	847152	G	A	DMRT1	c.538+9G>A	NM_021951.2	NP_068770.2:p.?	NC_000009.11:g.847152G>A	(Likely) benign	1 lab	9aecd5257c
9:139399507 NOTCH1 C>T	9	139399507	139399507	C	T	NOTCH1	c.4636G>A	NM_017617.5	NP_060087.3:p.(Asp1546Asn)	NC_000009.11:g.139399507C>T	VUS	1 lab	9aed169b0b
19:580655 BSG G>C	19	580655	580655	G	C	BSG	c.665G>C	NM_001728.3	NP_001719.2:p.(Arg222Thr)	NC_000019.9:g.580655G>C	(Likely) benign	1 lab	9aef83b112
9:139273572 SNAPC4 G>A	9	139273572	139273572	G	A	SNAPC4	c.2707C>T	NM_003086.3	NP_003077.2:p.(Gln903Ter)	NC_000009.11:g.139273572G>A	VUS	1 lab	9af2274695
9:131371507 SPTAN1 A>G	9	131371507	131371507	A	G	SPTAN1	c.4702A>G	NM_001130438.2	NP_001123910.1:p.(Ser1568Gly)	NC_000009.11:g.131371507A>G	VUS	1 lab	9af2fa3503
1:152282576 FLG G>A	1	152282576	152282576	G	A	FLG	c.4786C>T	NM_002016.1	NP_002007.1:p.(Gln1596Ter)	NC_000001.10:g.152282576G>A	(Likely) pathogenic	1 lab	9af35134b3
17:7810324 CHD3 C>G	17	7810324	7810324	C	G	CHD3	c.4818C>G	NM_001005271.2	NP_001005271.2:p.(Thr1606=)	NC_000017.10:g.7810324C>G	(Likely) benign	1 lab	9af53d798c
10:102749008 TWNK C>T	10	102749008	102749008	C	T	TWNK	c.1041C>T	NM_001163812.1	NP_001157284.1:p.(Asn347=)	NC_000010.10:g.102749008C>T	(Likely) benign	1 lab	9af760fca8
22:38165281 TRIOBP C>T	22	38165281	38165281	C	T	TRIOBP	c.6748C>T	NM_001039141.2	NP_001034230.1:p.(Arg2250Cys)	NC_000022.10:g.38165281C>T	(Likely) benign	1 lab	9af8b1ca0e
2:233389452 PRSS56 C>T	2	233389452	233389452	C	T	PRSS56	c.1419C>T	NM_001195129.1	NP_001182058.1:p.(Cys473=)	NC_000002.11:g.233389452C>T	(Likely) benign	1 lab	9af8b5170f
11:78412664 TENM4 G>A	11	78412664	78412664	G	A	TENM4	c.4994C>T	NM_001098816.2	NP_001092286.2:p.(Thr1665Ile)	NC_000011.9:g.78412664G>A	(Likely) benign	1 lab	9afa830343
6:112454706 LAMA4 G>A	6	112454706	112454706	G	A	LAMA4	c.3558-17C>T	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112454706G>A	(Likely) benign	1 lab	9afb25e185
14:53525292 DDHD1 C>T	14	53525292	53525292	C	T	DDHD1	c.1895G>A	NM_001160148.1	NP_001153620.1:p.(Arg632His)	NC_000014.8:g.53525292C>T	VUS	1 lab	9afc10d1c3
3:78795966 ROBO1 C>T	3	78795966	78795966	C	T	ROBO1	c.467G>A	NM_133631.4	NP_598334.2:p.(Arg156Gln)	NC_000003.11:g.78795966C>T	VUS	1 lab	ffe83216fd
2:71651041 ZNF638 G>C	2	71651041	71651041	G	C	ZNF638	c.4397G>C	NM_001252612.1	NP_001239541.1:p.(Gly1466Ala)	NC_000002.11:g.71651041G>C	VUS	1 lab	9afcbc0959
15:28412857 HERC2 T>C	15	28412857	28412857	T	C	HERC2	c.10530A>G	NM_004667.5	NP_004658.3:p.(Ala3510=)	NC_000015.9:g.28412857T>C	(Likely) benign	1 lab	9afd4d5d62
22:50946784 NCAPH2 G>A	22	50946784	50946784	G	A	NCAPH2	c.18G>A	NM_001185011.1	NP_001171940.1:p.(Ala6=)	NC_000022.10:g.50946784G>A	(Likely) benign	1 lab	9afd90b114
12:49431685 KMT2D G>A	12	49431685	49431685	G	A	KMT2D	c.9454C>T	NM_003482.3	NP_003473.3:p.(Leu3152=)	NC_000012.11:g.49431685G>A	(Likely) benign	1 lab	9afe67edab
18:56204977 ALPK2 C>T	18	56204977	56204977	C	T	ALPK2	c.2442G>A	NM_052947.4	NP_443179.3:p.(Thr814=)	NC_000018.9:g.56204977C>T	(Likely) benign	1 lab	9aff66c5f3
11:64976831 CAPN1 G>A	11	64976831	64976831	G	A	CAPN1	c.1767G>A	NM_001198868.1	NP_001185797.1:p.(Ser589=)	NC_000011.9:g.64976831G>A	(Likely) benign	1 lab	9b014fd350
X:19568173 SH3KBP1 T>C	X	19568173	19568173	T	C	SH3KBP1	c.1488A>G	NM_001353891.1	NP_001340820.1:p.(Ser496=)	NC_000023.10:g.19568173T>C	(Likely) benign	1 lab	9b01c10943
11:117691390 FXYD2 C>A	11	117691390	117691390	C	A	FXYD2	c.198G>T	NM_001680.5	NP_001671.2:p.(Pro66=)	NC_000011.9:g.117691390C>A	(Likely) benign	1 lab	9b0226b4fa
16:2345696 ABCA3 G>A	16	2345696	2345696	G	A	ABCA3	c.2309C>T	NM_001089.2	NP_001080.2:p.(Pro770Leu)	NC_000016.9:g.2345696G>A	(Likely) benign	1 lab	9b04b724b5
X:70837452 CXCR3 C>T	X	70837452	70837452	C	T	CXCR3	c.11G>A	NM_001142797.1	NP_001136269.1:p.(Arg4Lys)	NC_000023.10:g.70837452C>T	VUS	1 lab	9b057cf28c
1:155313116 ASH1L G>A	1	155313116	155313116	G	A	ASH1L	c.8282C>T	NM_018489.3	NP_060959.2:p.(Thr2761Met)	NC_000001.10:g.155313116G>A	VUS	1 lab	9b06552269
11:1263774 MUC5B C>A	11	1263774	1263774	C	A	MUC5B	c.5664C>A	NM_002458.2	NP_002449.2:p.(Thr1888=)	NC_000011.9:g.1263774C>A	(Likely) benign	1 lab	9b078d57e7
17:27068436 NEK8 G>A	17	27068436	27068436	G	A	NEK8	c.1897G>A	NM_178170.3	NP_835464.1:p.(Glu633Lys)	NC_000017.10:g.27068436G>A	VUS	1 lab	9b07e37c2c
22:37160049 IFT27 T>C	22	37160049	37160049	T	C	IFT27	c.266A>G	NM_001177701.2	NP_001171172.1:p.(Tyr89Cys)	NC_000022.10:g.37160049T>C	VUS	1 lab	9b08676b5d
1:228529863 OBSCN G>T	1	228529863	228529863	G	T	OBSCN	c.18078G>T	NM_052843.4	NP_443075.3:p.(Glu6026Asp)	NC_000001.10:g.228529863G>T	VUS	1 lab	ffebef6312
11:62291253 AHNAK G>T	11	62291253	62291253	G	T	AHNAK	c.10636C>A	NM_001620.3	NP_001611.1:p.(Pro3546Thr)	NC_000011.9:g.62291253G>T	VUS	1 lab	ffed73606d
5:68716110 MARVELD2 T>A	5	68716110	68716110	T	A	MARVELD2	c.898T>A	NM_001038603.2	NP_001033692.2:p.(Leu300Met)	NC_000005.9:g.68716110T>A	VUS	1 lab	9b0d7545e7
21:47704203 MCM3AP C>A	21	47704203	47704203	C	A	MCM3AP	c.998G>T	NM_003906.4	NP_003897.2:p.(Arg333Leu)	NC_000021.8:g.47704203C>A	(Likely) benign	1 lab	9b0e94b3ac
9:124083558 GSN G>A	9	124083558	124083558	G	A	GSN	c.1204G>A	NM_001353053.1	NP_001339982.1:p.(Glu402Lys)	NC_000009.11:g.124083558G>A	VUS	1 lab	9b10acb615
13:36909605 SPART G>A	13	36909605	36909605	G	A	SPART	c.363C>T	NM_015087.5	NP_055902.1:p.(Asp121=)	NC_000013.10:g.36909605G>A	(Likely) benign	1 lab	9b12cc910c
22:24133959 SMARCB1 G>A	22	24133959	24133959	G	A	SMARCB1	c.110G>A	NM_003073.3	NP_003064.2:p.(Arg37His)	NC_000022.10:g.24133959G>A	(Likely) pathogenic	1 lab	9b1377f59f
20:30407404 MYLK2 A>G	20	30407404	30407404	A	G	MYLK2	c.21A>G	NM_033118.3	NP_149109.1:p.(Ala7=)	NC_000020.10:g.30407404A>G	(Likely) benign	1 lab	9b13d8a0de
2:170025198 LRP2 GA>G	2	170025198	170025205	GA	G	LRP2	c.11498-13del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170025205del	(Likely) benign	1 lab	ffee6c88d0
16:2131675 TSC2 GCTGT>G	16	2131675	2131681	GCTGT	G	TSC2	c.3693_3696del	NM_000548.5	NP_000539.2:p.(Ser1232ThrfsTer92)	NC_000016.9:g.2131678_2131681del	(Likely) pathogenic	1 lab	9b14531fcb
17:29527556 NF1 T>C	17	29527556	29527556	T	C	NF1	c.1005T>C	NM_000267.3	NP_000258.1:p.(Asn335=)	NC_000017.10:g.29527556T>C	(Likely) benign	1 lab	9b1481b4bb
1:183208510 LAMC2 C>T	1	183208510	183208510	C	T	LAMC2	c.2881C>T	NM_005562.3	NP_005553.2:p.(Gln961Ter)	NC_000001.10:g.183208510C>T	(Likely) pathogenic	1 lab	ffeee7f4f9
16:1261282 CACNA1H T>C	16	1261282	1261282	T	C	CACNA1H	c.4338T>C	NM_021098.3	NP_066921.2:p.(Ile1446=)	NC_000016.9:g.1261282T>C	(Likely) benign	1 lab	fff0c956b2
1:16458715 EPHA2 G>A	1	16458715	16458715	G	A	EPHA2	c.2169C>T	NM_004431.4	NP_004422.2:p.(Ile723=)	NC_000001.10:g.16458715G>A	(Likely) benign	1 lab	9b16f2c630
X:128602843 SMARCA1 T>A	X	128602843	128602843	T	A	SMARCA1	c.2605A>T	NM_003069.4	NP_003060.2:p.(Ile869Phe)	NC_000023.10:g.128602843T>A	VUS	1 lab	9b177a26e7
5:77477331 AP3B1 C>T	5	77477331	77477331	C	T	AP3B1	c.795G>A	NM_001271769.1	NP_001258698.1:p.(Ala265=)	NC_000005.9:g.77477331C>T	(Likely) benign	1 lab	9b17ede415
8:145616807 ADCK5 C>T	8	145616807	145616807	C	T	ADCK5	c.826C>T	NM_174922.5	NP_777582.4:p.(Leu276=)	NC_000008.10:g.145616807C>T	(Likely) benign	1 lab	9b189a9578
2:31805954 SRD5A2 G>A	2	31805954	31805954	G	A	SRD5A2	c.16C>T	NM_000348.3	NP_000339.2:p.(Gln6Ter)	NC_000002.11:g.31805954G>A	(Likely) pathogenic	1 lab	9b19869bc7
9:133917042 LAMC3 C>T	9	133917042	133917042	C	T	LAMC3	c.1302C>T	NM_006059.3	NP_006050.3:p.(Pro434=)	NC_000009.11:g.133917042C>T	(Likely) benign	1 lab	9b1b2c13f6
2:234601810 UGT1A6 C>G	2	234601810	234601810	C	G	UGT1A6	c.160C>G	NM_001072.3	NP_001063.2:p.(His54Asp)	NC_000002.11:g.234601810C>G	VUS	1 lab	9b1c891be7
16:79633367 MAF C>T	16	79633367	79633367	C	T	MAF	c.433G>A	NM_001031804.2	NP_001026974.1:p.(Gly145Ser)	NC_000016.9:g.79633367C>T	VUS	1 lab	9b1eda7e1b
12:123087612 KNTC1 C>T	12	123087612	123087612	C	T	KNTC1	c.4923C>T	NM_014708.5	NP_055523.1:p.(His1641=)	NC_000012.11:g.123087612C>T	(Likely) benign	1 lab	9b1f0785da
2:197457185 HECW2 G>C	2	197457185	197457185	G	C	HECW2	c.-36+3C>G	NM_020760.3	NP_065811.1:p.?	NC_000002.11:g.197457185G>C	(Likely) benign	1 lab	9b1fbff221
9:99064415 HSD17B3 T>C	9	99064415	99064415	T	C	HSD17B3	c.-29A>G	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99064415T>C	(Likely) benign	1 lab	efba34ea9a
X:27765441 DCAF8L2 GGAGGAA>G	X	27765441	27765449	GGAGGAA	G	DCAF8L2	c.432_437del	NM_001353450.2	NP_001340379.1:p.(Glu146_Glu147del)	NC_000023.10:g.27765444_27765449del	VUS	1 lab	9b210c48e0
12:1984428 CACNA2D4 G>C	12	1984428	1984428	G	C	CACNA2D4	c.1795C>G	NM_172364.4	NP_758952.4:p.(Gln599Glu)	NC_000012.11:g.1984428G>C	(Likely) benign	1 lab	9b2242ce8a
17:6352718 PIMREG C>T	17	6352718	6352718	C	T	PIMREG	c.677C>T	NM_019013.3	NP_061886.2:p.(Ala226Val)	NC_000017.10:g.6352718C>T	VUS	1 lab	9b22bcb59b
15:72103835 NR2E3 C>T	15	72103835	72103835	C	T	NR2E3	c.131C>T	NM_016346.3	NP_057430.1:p.(Ser44Leu)	NC_000015.9:g.72103835C>T	VUS	1 lab	9b240fbe59
11:31822304 PAX6 G>A	11	31822304	31822304	G	A	PAX6	c.50C>T	NM_001310160.1	NP_001297089.1:p.(Thr17Ile)	NC_000011.9:g.31822304G>A	(Likely) benign	1 lab	9b248b269c
15:100881402 ADAMTS17 G>C	15	100881402	100881402	G	C	ADAMTS17	c.292C>G	NM_139057.3	NP_620688.2:p.(Arg98Gly)	NC_000015.9:g.100881402G>C	VUS	1 lab	9b27de3f5a
14:45465046 TOGARAM1 G>A	14	45465046	45465046	G	A	TOGARAM1	c.2144G>A	NM_015091.4	NP_055906.2:p.(Arg715Lys)	NC_000014.8:g.45465046G>A	VUS	1 lab	fff724433d
19:54930476 TTYH1 G>A	19	54930476	54930476	G	A	TTYH1	c.301G>A	NM_001201461.1	NP_001188390.1:p.(Gly101Ser)	NC_000019.9:g.54930476G>A	(Likely) benign	1 lab	9b2afb5566
6:17633077 NUP153 TA>T	6	17633077	17633094	TA	T	NUP153	c.2465-3del	NM_005124.4	NP_005115.2:p.?	NC_000006.11:g.17633094del	(Likely) benign	1 lab	9b2c3e30a3
13:52548454 ATP7B T>C	13	52548454	52548454	T	C	ATP7B	c.902A>G	NM_000053.3	NP_000044.2:p.(Tyr301Cys)	NC_000013.10:g.52548454T>C	VUS	1 lab	9b2dbf5119
22:36902316 FOXRED2 C>A	22	36902316	36902316	C	A	FOXRED2	c.154G>T	NM_024955.5	NP_079231.4:p.(Ala52Ser)	NC_000022.10:g.36902316C>A	VUS	1 lab	9b2ebcc90d
19:3908304 ATCAY G>A	19	3908304	3908304	G	A	ATCAY	c.583G>A	NM_033064.4	NP_149053.1:p.(Ala195Thr)	NC_000019.9:g.3908304G>A	(Likely) benign	1 lab	9b2f343e66
2:220283405 DES T>C	2	220283405	220283405	T	C	DES	c.221T>C	NM_001927.3	NP_001918.3:p.(Leu74Pro)	NC_000002.11:g.220283405T>C	VUS	1 lab	9b2f61d2e6
1:215799194 USH2A G>A	1	215799194	215799194	G	A	USH2A	c.15538C>T	NM_206933.2	NP_996816.2:p.(Leu5180=)	NC_000001.10:g.215799194G>A	(Likely) benign	1 lab	9b2fd96906
2:74684491 INO80B C>T	2	74684491	74684491	C	T	INO80B	c.571C>T	NM_031288.4	NP_112578.2:p.(Pro191Ser)	NC_000002.11:g.74684491C>T	VUS	1 lab	9b30ccedb0
22:19504059 CDC45 C>T	22	19504059	19504059	C	T	CDC45	c.1546C>T	NM_001178010.2	NP_001171481.1:p.(Arg516Trp)	NC_000022.10:g.19504059C>T	VUS	1 lab	9b31f07532
2:241726674 KIF1A G>A	2	241726674	241726674	G	A	KIF1A	c.423C>T	NM_001244008.1	NP_001230937.1:p.(Ser141=)	NC_000002.11:g.241726674G>A	(Likely) benign	1 lab	9b34b11979
X:6995471 PUDP G>A	X	6995471	6995471	G	A	PUDP	c.369C>T	NM_001135565.1	NP_001129037.1:p.(Ile123=)	NC_000023.10:g.6995471G>A	(Likely) benign	1 lab	9b35619785
1:53675850 CPT2 TGGCC>T	1	53675850	53675854	TGGCC	T	CPT2	c.505_508del	NM_000098.3	NP_000089.1:p.(Gly169PhefsTer9)	NC_000001.10:g.53675851_53675854del	(Likely) pathogenic	1 lab	9b3780e928
14:105236732 AKT1 G>A	14	105236732	105236732	G	A	AKT1	c.1389C>T	NM_001014432.1	NP_001014432.1:p.(Ser463=)	NC_000014.8:g.105236732G>A	(Likely) benign	1 lab	9b378f193e
3:123022009 ADCY5 C>T	3	123022009	123022009	C	T	ADCY5	c.2617G>A	NM_183357.2	NP_899200.1:p.(Ala873Thr)	NC_000003.11:g.123022009C>T	(Likely) benign	1 lab	9b3ab17970
1:16461581 EPHA2 G>A	1	16461581	16461581	G	A	EPHA2	c.1532C>T	NM_004431.4	NP_004422.2:p.(Thr511Met)	NC_000001.10:g.16461581G>A	(Likely) benign	1 lab	9b3ac842c9
12:100451840 BLTP3B G>C	12	100451840	100451840	G	C	BLTP3B	c.3215C>G	NM_015054.2	NP_055869.1:p.(Pro1072Arg)	NC_000012.11:g.100451840G>C	(Likely) benign	1 lab	9b3f696b01
16:2131594 TSC2 AG>A	16	2131594	2131597	AG	A	TSC2	c.3612del	NM_000548.5	NP_000539.2:p.(Asn1205ThrfsTer5)	NC_000016.9:g.2131597del	(Likely) pathogenic	1 lab	9b421e0be5
14:103396662 AMN C>A	14	103396662	103396662	C	A	AMN	c.1167C>A	NM_030943.3	NP_112205.2:p.(Leu389=)	NC_000014.8:g.103396662C>A	(Likely) benign	1 lab	9b42349038
3:164700043 SI G>A	3	164700043	164700043	G	A	SI	c.5403C>T	NM_001041.3	NP_001032.2:p.(Asp1801=)	NC_000003.11:g.164700043G>A	(Likely) benign	1 lab	9b423acb34
19:36572471 WDR62 A>G	19	36572471	36572471	A	G	WDR62	c.1370A>G	NM_001083961.1	NP_001077430.1:p.(Asn457Ser)	NC_000019.9:g.36572471A>G	(Likely) benign	1 lab	9b4271ebd7
11:48146678 PTPRJ G>A	11	48146678	48146678	G	A	PTPRJ	c.1033G>A	NM_002843.3	NP_002834.3:p.(Val345Ile)	NC_000011.9:g.48146678G>A	(Likely) benign	1 lab	9b44938c0a
X:74494227 UPRT G>C	X	74494227	74494227	G	C	UPRT	c.138G>C	NM_001307944.1	NP_001294873.1:p.(Arg46Ser)	NC_000023.10:g.74494227G>C	(Likely) benign	1 lab	9b44dbc353
20:33519830 GSS G>A	20	33519830	33519830	G	A	GSS	c.941C>T	NM_001322495.1	NP_001309424.1:p.(Pro314Leu)	NC_000020.10:g.33519830G>A	(Likely) benign	1 lab	9b474aece0
X:48922165 CCDC120 C>T	X	48922165	48922165	C	T	CCDC120				NC_000023.10:g.48922165C>T	(Likely) benign	1 lab	9b49654534
12:49579363 TUBA1A A>G	12	49579363	49579363	A	G	TUBA1A	c.786T>C	NM_006009.3	NP_006000.2:p.(Tyr262=)	NC_000012.11:g.49579363A>G	(Likely) benign	1 lab	9b4a6b1add
7:21760460 DNAH11 C>G	7	21760460	21760460	C	G	DNAH11				NC_000007.13:g.21760460C>G	VUS	1 lab	efd5321528
X:149631052 MAMLD1 G>A	X	149631052	149631052	G	A	MAMLD1	c.111G>A	NM_005491.4	NP_005482.2:p.(Ser37=)	NC_000023.10:g.149631052G>A	(Likely) benign	1 lab	9b4c4ab369
7:117144445 CFTR A>G	7	117144445	117144445	A	G	CFTR	c.164+28A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117144445A>G	(Likely) benign	1 lab	9b4d6bccc2
X:99661997 PCDH19 C>A	X	99661997	99661997	C	A	PCDH19	c.1599G>T	NM_001184880.1	NP_001171809.1:p.(Val533=)	NC_000023.10:g.99661997C>A	(Likely) benign	1 lab	9b50479ff1
14:95557626 DICER1 G>A	14	95557626	95557626	G	A	DICER1	c.5441C>T	NM_030621.4	NP_085124.2:p.(Ser1814Leu)	NC_000014.8:g.95557626G>A	(Likely) pathogenic	1 lab	9b50991bde
X:39933723 BCOR G>A	X	39933723	39933723	G	A	BCOR	c.876C>T	NM_001123385.1	NP_001116857.1:p.(Gly292=)	NC_000023.10:g.39933723G>A	(Likely) benign	1 lab	9b50f443ab
1:46662424 POMGNT1 A>G	1	46662424	46662424	A	G	POMGNT1	c.333T>C	NM_001243766.1	NP_001230695.1:p.(Tyr111=)	NC_000001.10:g.46662424A>G	(Likely) benign	1 lab	9b52cb2eae
3:38651415 SCN5A C>T	3	38651415	38651415	C	T	SCN5A	c.744G>A	NM_198056.2	NP_932173.1:p.(Lys248=)	NC_000003.11:g.38651415C>T	(Likely) benign	1 lab	9b5423e3d3
X:153496081 OPN1MW2 T>C	X	153496081	153496081	T	C	OPN1MW2	c.809T>C	NM_001048181.2	NP_001041646.1:p.(Val270Ala)	NC_000023.10:g.153496081T>C	VUS	1 lab	9b56fa6901
3:128616481 ACAD9 C>T	3	128616481	128616481	C	T	ACAD9	c.561C>T	NM_014049.4	NP_054768.2:p.(Ser187=)	NC_000003.11:g.128616481C>T	(Likely) benign	1 lab	9b570e8a8f
12:114803993 TBX5 AT>A	12	114803993	114803996	AT	A	TBX5	c.958del	NM_181486.4	NP_852259.1:p.(Ile320PhefsTer74)	NC_000012.11:g.114803996del	(Likely) pathogenic	1 lab	9b575ae457
X:79282248 TBX22 A>G	X	79282248	79282248	A	G	TBX22	c.679A>G	NM_001109878.1	NP_001103348.1:p.(Ile227Val)	NC_000023.10:g.79282248A>G	(Likely) benign	1 lab	9b5821fb69
19:38933000 RYR1 C>T	19	38933000	38933000	C	T	RYR1	c.177C>T	NM_000540.2	NP_000531.2:p.(Pro59=)	NC_000019.9:g.38933000C>T	(Likely) benign	1 lab	9b5971329b
15:78452427 IDH3A C>T	15	78452427	78452427	C	T	IDH3A	c.175-7C>T	NM_005530.3	NP_005521.1:p.?	NC_000015.9:g.78452427C>T	(Likely) benign	1 lab	9b59a12f3d
19:11313311 DOCK6 C>G	19	11313311	11313311	C	G	DOCK6	c.5310G>C	NM_020812.3	NP_065863.2:p.(Val1770=)	NC_000019.9:g.11313311C>G	(Likely) benign	1 lab	9b5a4d70fa
X:107147219 MID2 T>C	X	107147219	107147219	T	C	MID2	c.848T>C	NM_012216.3	NP_036348.2:p.(Met283Thr)	NC_000023.10:g.107147219T>C	(Likely) benign	1 lab	9b5b27f59d
X:69502413 RAB41 T>C	X	69502413	69502413	T	C	RAB41	c.152T>C	NM_001032726.2	NP_001027898.2:p.(Met51Thr)	NC_000023.10:g.69502413T>C	VUS	1 lab	9b5c8e99cf
11:47372961 MYBPC3 G>A	11	47372961	47372961	G	A	MYBPC3	c.121C>T	NM_000256.3	NP_000247.2:p.(Arg41Cys)	NC_000011.9:g.47372961G>A	VUS	1 lab	9b5cfa0dae
11:68181431 LRP5 C>T	11	68181431	68181431	C	T	LRP5	c.1035C>T	NM_001291902.1	NP_001278831.1:p.(Cys345=)	NC_000011.9:g.68181431C>T	(Likely) benign	1 lab	9b5d1fabae
9:14737513 FREM1 G>A	9	14737513	14737513	G	A	FREM1	c.6421C>T	NM_144966.5	NP_659403.4:p.(Pro2141Ser)	NC_000009.11:g.14737513G>A	(Likely) benign	1 lab	9b5d4834b3
5:112174648 APC TG>T	5	112174648	112174650	TG	T	APC	c.3359del	NM_000038.6	NP_000029.2:p.(Gly1120GlufsTer6)	NC_000005.9:g.112174650del	VUS	1 lab	9b5d87931b
20:49509585 ADNP G>A	20	49509585	49509585	G	A	ADNP	c.1666C>T	NM_001282531.2	NP_001269460.1:p.(Gln556Ter)	NC_000020.10:g.49509585G>A	(Likely) pathogenic	1 lab	9b5ded2cf3
1:91403851 ZNF644 T>C	1	91403851	91403851	T	C	ZNF644	c.3060A>G	NM_201269.2	NP_958357.1:p.(Thr1020=)	NC_000001.10:g.91403851T>C	(Likely) benign	1 lab	9b5f466b36
11:55541089 OR5D13 C>A	11	55541089	55541089	C	A	OR5D13	c.176C>A	NM_001001967.1	NP_001001967.1:p.(Thr59Lys)	NC_000011.9:g.55541089C>A	VUS	1 lab	9b5f75f20a
13:111111230 COL4A2 G>C	13	111111230	111111230	G	C	COL4A2	c.1545G>C	NM_001846.3	NP_001837.2:p.(Gly515=)	NC_000013.10:g.111111230G>C	(Likely) benign	1 lab	9b62073755
15:33955051 RYR3 G>A	15	33955051	33955051	G	A	RYR3	c.5320G>A	NM_001036.4	NP_001027.3:p.(Val1774Met)	NC_000015.9:g.33955051G>A	(Likely) benign	1 lab	9b6313e2e5
6:83839843 DOP1A C>T	6	83839843	83839843	C	T	DOP1A	c.2316C>T	NM_001199942.1	NP_001186871.1:p.(Asp772=)	NC_000006.11:g.83839843C>T	(Likely) benign	1 lab	9b642e0496
6:33144064 COL11A2 C>T	6	33144064	33144064	C	T	COL11A2	c.2186G>A	NM_080680.2	NP_542411.2:p.(Arg729Gln)	NC_000006.11:g.33144064C>T	(Likely) benign	1 lab	9b64a9816a
3:120628434 STXBP5L G>A	3	120628434	120628434	G	A	STXBP5L	c.9G>A	NM_014980.2	NP_055795.1:p.(Lys3=)	NC_000003.11:g.120628434G>A	(Likely) benign	1 lab	9b65750026
6:74351669 SLC17A5 A>G	6	74351669	74351669	A	G	SLC17A5	c.292-22T>C	NM_012434.4	NP_036566.1:p.?	NC_000006.11:g.74351669A>G	(Likely) benign	1 lab	9b664b435f
2:220081152 ABCB6 G>C	2	220081152	220081152	G	C	ABCB6	c.904C>G	NM_005689.2	NP_005680.1:p.(Leu302Val)	NC_000002.11:g.220081152G>C	(Likely) benign	1 lab	9b66c9a9bb
17:79477809 ACTG1 G>A	17	79477809	79477809	G	A	ACTG1	c.1035C>T	NM_001199954.2	NP_001186883.1:p.(Ile345=)	NC_000017.10:g.79477809G>A	(Likely) benign	1 lab	9b678c620b
4:47643965 CORIN G>A	4	47643965	47643965	G	A	CORIN	c.2170C>T	NM_006587.3	NP_006578.2:p.(Gln724Ter)	NC_000004.11:g.47643965G>A	VUS	1 lab	9b6885866d
17:56283847 MKS1 A>C	17	56283847	56283847	A	C	MKS1	c.1469T>G	NM_017777.3	NP_060247.2:p.(Leu490Trp)	NC_000017.10:g.56283847A>C	VUS	1 lab	9b6b46cc7a
1:78399001 NEXN CA>C	1	78399001	78399003	CA	C	NEXN	c.1090del	NM_144573.4	NP_653174.3:p.(Ile364SerfsTer19)	NC_000001.10:g.78399003del	VUS	1 lab	9b6bd12cfc
3:155481319 MISO1 C>T	3	155481319	155481319	C	T	MISO1	c.743G>A	NM_173657.2	NP_775928.1:p.(Arg248His)	NC_000003.11:g.155481319C>T	(Likely) benign	1 lab	9b6eba3986
11:68181182 LRP5 C>T	11	68181182	68181182	C	T	LRP5	c.786C>T	NM_001291902.1	NP_001278831.1:p.(Asp262=)	NC_000011.9:g.68181182C>T	(Likely) benign	1 lab	9b6f02f8d1
7:21659687 DNAH11 G>A	7	21659687	21659687	G	A	DNAH11				NC_000007.13:g.21659687G>A	(Likely) benign	1 lab	9b6fb8206f
X:108641924 GUCY2F A>T	X	108641924	108641924	A	T	GUCY2F	c.2129T>A	NM_001522.2	NP_001513.2:p.(Leu710Gln)	NC_000023.10:g.108641924A>T	(Likely) benign	1 lab	9b7114b937
17:76502807 DNAH17 C>A	17	76502807	76502807	C	A	DNAH17	c.4798G>T	NM_173628.3	NP_775899.3:p.(Val1600Leu)	NC_000017.10:g.76502807C>A	VUS	1 lab	9b7228430a
5:171809102 SH3PXD2B A>G	5	171809102	171809102	A	G	SH3PXD2B	c.339T>C	NM_001017995.2	NP_001017995.1:p.(Ser113=)	NC_000005.9:g.171809102A>G	(Likely) benign	1 lab	9b72d4b981
14:64519997 SYNE2 A>G	14	64519997	64519997	A	G	SYNE2	c.9366A>G	NM_182914.2	NP_878918.2:p.(Gln3122=)	NC_000014.8:g.64519997A>G	(Likely) benign	1 lab	9b73e5d837
16:90001776 TUBB3 G>A	16	90001776	90001776	G	A	TUBB3	c.917G>A	NM_006086.4	NP_006077.2:p.(Arg306His)	NC_000016.9:g.90001776G>A	VUS	1 lab	9b758cda52
11:2906603 CDKN1C G>A	11	2906603	2906603	G	A	CDKN1C	c.117C>T	NM_000076.2	NP_000067.1:p.(His39=)	NC_000011.9:g.2906603G>A	(Likely) benign	1 lab	9b76c2e46a
16:1257313 CACNA1H C>T	16	1257313	1257313	C	T	CACNA1H	c.2946C>T	NM_021098.2	NP_066921.2:p.(Asn982=)	NC_000016.9:g.1257313C>T	(Likely) benign	1 lab	9b76f6953e
10:104160058 NFKB2 C>A	10	104160058	104160058	C	A	NFKB2	c.1608C>A	NM_001288724.1	NP_001275653.1:p.(Ile536=)	NC_000010.10:g.104160058C>A	(Likely) benign	1 lab	9b790731cf
X:154132688 F8 T>A	X	154132688	154132688	T	A	F8	c.5698A>T	NM_000132.3	NP_000123.1:p.(Thr1900Ser)	NC_000023.10:g.154132688T>A	(Likely) benign	1 lab	9b79371011
8:42995767 HGSNAT C>A	8	42995767	42995767	C	A	HGSNAT	c.118+10C>A	NM_001363227.1	NP_001350156.1:p.?	NC_000008.10:g.42995767C>A	(Likely) benign	1 lab	9b794973a5
17:79479176 ACTG1 G>A	17	79479176	79479176	G	A	ACTG1	c.124-8C>T	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79479176G>A	(Likely) benign	1 lab	9b7aa11480
11:17548592 USH1C G>A	11	17548592	17548592	G	A	USH1C	c.497-5C>T	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17548592G>A	(Likely) benign	1 lab	9b7c6b5432
10:55582577 PCDH15 CTT>C	10	55582577	55582580	CTT	C	PCDH15	c.4368-2589_4368-2588del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55582579_55582580del	(Likely) pathogenic	1 lab	9b7cc076b6
19:16000357 CYP4F2 T>C	19	16000357	16000357	T	C	CYP4F2	c.794A>G	NM_001082.4	NP_001073.3:p.(Asp265Gly)	NC_000019.9:g.16000357T>C	(Likely) benign	1 lab	9b7d8e7c20
3:170805171 TNIK C>T	3	170805171	170805171	C	T	TNIK	c.2846G>A	NM_015028.3	NP_055843.1:p.(Arg949His)	NC_000003.11:g.170805171C>T	(Likely) benign	1 lab	9b7eabba95
2:109384627 RANBP2 G>C	2	109384627	109384627	G	C	RANBP2	c.7632G>C	NM_006267.4	NP_006258.3:p.(Leu2544Phe)	NC_000002.11:g.109384627G>C	VUS	1 lab	9b7f3a0a3f
10:120905762 SFXN4 G>A	10	120905762	120905762	G	A	SFXN4	c.922C>T	NM_213649.1	NP_998814.1:p.(Pro308Ser)	NC_000010.10:g.120905762G>A	VUS	1 lab	9b80baa531
17:36492868 GPR179 C>T	17	36492868	36492868	C	T	GPR179	c.1220G>A	NM_001004334.3	NP_001004334.3:p.(Arg407Gln)	NC_000017.10:g.36492868C>T	VUS	1 lab	9b81b06d4c
12:6424289 PLEKHG6 G>C	12	6424289	6424289	G	C	PLEKHG6	c.317G>C	NM_001144857.1	NP_001138329.1:p.(Gly106Ala)	NC_000012.11:g.6424289G>C	(Likely) benign	1 lab	9b821b9fc9
9:133759697 ABL1 C>T	9	133759697	133759697	C	T	ABL1	c.2077C>T	NM_007313.2	NP_009297.2:p.(Arg693Trp)	NC_000009.11:g.133759697C>T	VUS	1 lab	9b855ddc12
19:3910897 ATCAY G>A	19	3910897	3910897	G	A	ATCAY	c.866+10G>A	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3910897G>A	(Likely) benign	1 lab	9b85c445cc
2:26707421 OTOF C>T	2	26707421	26707421	C	T	OTOF	c.1126G>A	NM_194248.2	NP_919224.1:p.(Asp376Asn)	NC_000002.11:g.26707421C>T	VUS	1 lab	9b85e3a41f
6:146755132 GRM1 G>A	6	146755132	146755132	G	A	GRM1	c.2785G>A	NM_001278064.1	NP_001264993.1:p.(Val929Ile)	NC_000006.11:g.146755132G>A	(Likely) benign	1 lab	9b866c3db2
8:99207030 NIPAL2 C>A	8	99207030	99207030	C	A	NIPAL2	c.965G>T	NM_024759.2	NP_079035.1:p.(Gly322Val)	NC_000008.10:g.99207030C>A	VUS	1 lab	9b878a9f5e
1:22155910 HSPG2 G>A	1	22155910	22155910	G	A	HSPG2	c.11961C>T	NM_001291860.1	NP_001278789.1:p.(Gly3987=)	NC_000001.10:g.22155910G>A	(Likely) benign	1 lab	9b879178cf
14:21871726 CHD8 A>C	14	21871726	21871726	A	C	CHD8	c.3404T>G	NM_001170629.1	NP_001164100.1:p.(Leu1135Arg)	NC_000014.8:g.21871726A>C	VUS	1 lab	9b8939b795
X:153277337 IRAK1 G>A	X	153277337	153277337	G	A	IRAK1	c.2112C>T	NM_001569.3	NP_001560.2:p.(Pro704=)	NC_000023.10:g.153277337G>A	(Likely) benign	1 lab	9b8aa51aa2
5:94852457 SKIC3 GA>G	5	94852457	94852461	GA	G	SKIC3	c.2437-4del	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94852461del	(Likely) benign	1 lab	9b8c5c10d9
8:124383522 ATAD2 C>T	8	124383522	124383522	C	T	ATAD2	c.593G>A	NM_014109.4	NP_054828.2:p.(Arg198Gln)	NC_000008.10:g.124383522C>T	(Likely) benign	1 lab	9b8d1dc566
2:128044566 ERCC3 G>T	2	128044566	128044566	G	T	ERCC3	c.863C>A	NM_001303418.1	NP_001290347.1:p.(Thr288Asn)	NC_000002.11:g.128044566G>T	VUS	1 lab	9b8e260f24
8:1951215 KBTBD11 G>A	8	1951215	1951215	G	A	KBTBD11	c.1857G>A	NM_014867.3	NP_055682.1:p.(Glu619=)	NC_000008.10:g.1951215G>A	(Likely) benign	1 lab	9b8f92e871
7:2472409 CHST12 G>T	7	2472409	2472409	G	T	CHST12	c.135G>T	NM_018641.4	NP_061111.1:p.(Thr45=)	NC_000007.13:g.2472409G>T	(Likely) benign	1 lab	9b8f9f43bd
15:49090175 CEP152 G>A	15	49090175	49090175	G	A	CEP152	c.161C>T	NM_001194998.1	NP_001181927.1:p.(Ser54Leu)	NC_000015.9:g.49090175G>A	(Likely) benign	1 lab	9b947f9071
2:179440604 TTN T>G	2	179440604	179440604	T	G	TTN	c.70255A>C	NM_001267550.1	NP_001254479.1:p.(Asn23419His)	NC_000002.11:g.179440604T>G	VUS	1 lab	9b9501cbf1
10:50667079 ERCC6 T>C	10	50667079	50667079	T	C	ERCC6	c.4264A>G	NM_000124.2	NP_000115.1:p.(Thr1422Ala)	NC_000010.10:g.50667079T>C	VUS	1 lab	9b952b502d
2:232660815 COPS7B G>A	2	232660815	232660815	G	A	COPS7B	c.328-1G>A	NM_001308381.1	NP_001295310.1:p.?	NC_000002.11:g.232660815G>A	VUS	1 lab	9b972c4044
2:45169285 SIX3 C>T	2	45169285	45169285	C	T	SIX3	c.42C>T	NM_005413.3	NP_005404.1:p.(Phe14=)	NC_000002.11:g.45169285C>T	(Likely) benign	1 lab	9b98db936d
21:46875756 COL18A1 G>A	21	46875756	46875756	G	A	COL18A1	c.107-12400G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46875756G>A	(Likely) benign	1 lab	9b99254289
16:89576900 SPG7 C>T	16	89576900	89576900	C	T	SPG7	c.186C>T	NM_003119.3	NP_003110.1:p.(Ser62=)	NC_000016.9:g.89576900C>T	(Likely) benign	1 lab	9b9a3632ec
16:50828314 CYLD CTTT>C	16	50828314	50828317	CTTT	C	CYLD	c.2662_2664del	NM_001378743.1	NP_001365672.1:p.(Phe888del)	NC_000016.9:g.50828315_50828317del	(Likely) pathogenic	1 lab	9b9c2016ab
1:7805969 CAMTA1 G>A	1	7805969	7805969	G	A	CAMTA1	c.4435G>A	NM_015215.3	NP_056030.1:p.(Val1479Ile)	NC_000001.10:g.7805969G>A	(Likely) benign	1 lab	9b9fe59820
X:48767561 SLC35A2 C>T	X	48767561	48767561	C	T	SLC35A2	c.125G>A	NM_001282651.1	NP_001269580.1:p.(Arg42His)	NC_000023.10:g.48767561C>T	(Likely) benign	1 lab	9ba06e54c9
2:84932822 DNAH6 G>A	2	84932822	84932822	G	A	DNAH6	c.8678G>A	NM_001370.1	NP_001361.1:p.(Arg2893Gln)	NC_000002.11:g.84932822G>A	VUS	1 lab	9ba31d3ff5
7:73450910 ELN A>T	7	73450910	73450910	A	T	ELN	c.159A>T	NM_001278939.1	NP_001265868.1:p.(Gly53=)	NC_000007.13:g.73450910A>T	(Likely) benign	1 lab	9ba38416d5
11:47317530 MADD G>A	11	47317530	47317530	G	A	MADD	c.3683G>A	NM_003682.3	NP_003673.3:p.(Ser1228Asn)	NC_000011.9:g.47317530G>A	(Likely) benign	1 lab	9ba9ed43e6
2:149798512 KIF5C G>A	2	149798512	149798512	G	A	KIF5C	c.501+8G>A	NM_004522.3	NP_004513.1:p.?	NC_000002.11:g.149798512G>A	(Likely) benign	1 lab	9bac5c97ae
X:106186355 MORC4 T>C	X	106186355	106186355	T	C	MORC4	c.1766A>G	NM_024657.5	NP_078933.3:p.(Asp589Gly)	NC_000023.10:g.106186355T>C	VUS	1 lab	9bac83ea6d
21:44492275 CBS AC>A	21	44492275	44492276	AC	A	CBS	c.28del	NM_000071.3	NP_000062.1:p.(Val10TrpfsTer72)	NC_000021.8:g.44492276del	(Likely) pathogenic	1 lab	9bad7f2f80
15:89876912 POLG C>G	15	89876912	89876912	C	G	POLG	c.74G>C	NM_002693.2	NP_002684.1:p.(Trp25Ser)	NC_000015.9:g.89876912C>G	(Likely) benign	1 lab	9bae238fae
X:23953311 CXorf58 A>C	X	23953311	23953311	A	C	CXorf58	c.556-2A>C	NM_152761.2	NP_689974.2:p.?	NC_000023.10:g.23953311A>C	VUS	1 lab	9baedd2c3b
2:1915822 MYT1L T>C	2	1915822	1915822	T	C	MYT1L	c.1679A>G	NM_001329851.1	NP_001316780.1:p.(His560Arg)	NC_000002.11:g.1915822T>C	VUS	1 lab	9baf52b704
8:61741304 CHD7 G>T	8	61741304	61741304	G	T	CHD7				NC_000008.10:g.61741304G>T	VUS	1 lab	9bb09e900c
12:250444 IQSEC3 G>A	12	250444	250444	G	A	IQSEC3	c.2146G>A	NM_001170738.1	NP_001164209.1:p.(Val716Met)	NC_000012.11:g.250444G>A	VUS	1 lab	9bb116e054
17:42151573 G6PC3 T>G	17	42151573	42151573	T	G	G6PC3	c.264T>G	NM_138387.3	NP_612396.1:p.(Gly88=)	NC_000017.10:g.42151573T>G	(Likely) benign	1 lab	9bb2f6ca75
X:30873039 TAB3 G>A	X	30873039	30873039	G	A	TAB3	c.743C>T	NM_152787.4	NP_690000.3:p.(Thr248Met)	NC_000023.10:g.30873039G>A	(Likely) benign	1 lab	9bb4d95427
18:42533267 SETBP1 G>A	18	42533267	42533267	G	A	SETBP1	c.3962G>A	NM_015559.3	NP_056374.2:p.(Arg1321His)	NC_000018.9:g.42533267G>A	VUS	1 lab	9bb4dee86e
16:1634417 IFT140 C>T	16	1634417	1634417	C	T	IFT140	c.1160G>A	NM_014714.3	NP_055529.2:p.(Gly387Asp)	NC_000016.9:g.1634417C>T	VUS	1 lab	9bb4fa96c9
8:144995656 PLEC T>G	8	144995656	144995656	T	G	PLEC	c.8744A>C	NM_201380.3	NP_958782.1:p.(Lys2915Thr)	NC_000008.10:g.144995656T>G	VUS	1 lab	9bb69a53b1
7:128848608 SMO ACT>A	7	128848608	128848612	ACT	A	SMO	c.1276_1277del	NM_005631.5	NP_005622.1:p.(Leu426ValfsTer13)	NC_000007.13:g.128848611_128848612del	(Likely) pathogenic	1 lab	9bb80c5b81
X:131212402 FRMD7 T>G	X	131212402	131212402	T	G	FRMD7	c.1643A>C	NM_194277.2	NP_919253.1:p.(Gln548Pro)	NC_000023.10:g.131212402T>G	(Likely) benign	1 lab	9bbe2b5473
4:186998119 TLR3 G>A	4	186998119	186998119	G	A	TLR3	c.346G>A	NM_003265.2	NP_003256.1:p.(Asp116Asn)	NC_000004.11:g.186998119G>A	VUS	1 lab	9bbf9daa80
17:43345027 MAP3K14 C>G	17	43345027	43345027	C	G	MAP3K14	c.2072G>C	NM_003954.5	NP_003945.2:p.(Arg691Thr)	NC_000017.10:g.43345027C>G	(Likely) benign	1 lab	9bbfcaec35
7:151902197 KMT2C C>G	7	151902197	151902197	C	G	KMT2C	c.3955G>C	NM_170606.2	NP_733751.2:p.(Asp1319His)	NC_000007.13:g.151902197C>G	VUS	1 lab	9bbfed8168
6:69348700 ADGRB3 A>G	6	69348700	69348700	A	G	ADGRB3	c.133A>G	NM_001704.3	NP_001695.2:p.(Ser45Gly)	NC_000006.11:g.69348700A>G	VUS	1 lab	9bc153bbda
4:66361182 EPHA5 C>T	4	66361182	66361182	C	T	EPHA5	c.990G>A	NM_001281765.2	NP_001268694.1:p.(Glu330=)	NC_000004.11:g.66361182C>T	(Likely) benign	1 lab	9bc1e67705
X:55172689 VCF2 G>A	X	55172689	55172689	G	A	VCF2	c.173C>T	NM_001166703.1	NP_001160175.1:p.(Ala58Val)	NC_000023.10:g.55172689G>A	VUS	1 lab	9bc48af003
6:38729481 DNAH8 ACAAAT>A	6	38729481	38729491	ACAAAT	A	DNAH8	c.1525_1529del	NM_001206927.2	NP_001193856.1:p.(Gln509GlyfsTer5)	NC_000006.11:g.38729487_38729491del	VUS	1 lab	9bc5eb4280
4:39241898 WDR19 G>A	4	39241898	39241898	G	A	WDR19	c.2365G>A	NM_025132.3	NP_079408.3:p.(Gly789Ser)	NC_000004.11:g.39241898G>A	VUS	1 lab	9bc6e1f3d9
11:68177555 LRP5 C>T	11	68177555	68177555	C	T	LRP5	c.2265C>T	NM_002335.3	NP_002326.2:p.(Leu755=)	NC_000011.9:g.68177555C>T	(Likely) benign	1 lab	9bc8ed18b5
12:53818971 AMHR2 G>A	12	53818971	53818971	G	A	AMHR2	c.447G>A	NM_020547.3	NP_065434.1:p.(Leu149=)	NC_000012.11:g.53818971G>A	(Likely) benign	1 lab	9bc9c7a918
2:211512716 CPS1 A>G	2	211512716	211512716	A	G	CPS1	c.3271A>G	NM_001875.4	NP_001866.2:p.(Ile1091Val)	NC_000002.11:g.211512716A>G	(Likely) benign	1 lab	9bd8fa0c11
16:81946278 PLCG2 A>G	16	81946278	81946278	A	G	PLCG2	c.2011A>G	NM_002661.3	NP_002652.2:p.(Ile671Val)	NC_000016.9:g.81946278A>G	(Likely) benign	1 lab	9bca7ca234
14:23884418 MYH7 A>C	14	23884418	23884418	A	C	MYH7	c.5345T>G	NM_000257.2	NP_000248.2:p.(Met1782Arg)	NC_000014.8:g.23884418A>C	(Likely) pathogenic	1 lab	9bcb7d6a01
X:153230074 HCFC1 C>G	X	153230074	153230074	C	G	HCFC1	c.297G>C	NM_005334.2	NP_005325.2:p.(Gly99=)	NC_000023.10:g.153230074C>G	(Likely) benign	1 lab	9bd035279f
17:73759512 GALK1 G>A	17	73759512	73759512	G	A	GALK1	c.364C>T	NM_000154.1	NP_000145.1:p.(Leu122Phe)	NC_000017.10:g.73759512G>A	VUS	1 lab	9bd1025a55
12:9000236 A2ML1 G>A	12	9000236	9000236	G	A	A2ML1	c.1775G>A	NM_144670.5	NP_653271.2:p.(Arg592Gln)	NC_000012.11:g.9000236G>A	VUS	1 lab	9bd14cd3c7
12:78334902 NAV3 C>G	12	78334902	78334902	C	G	NAV3	c.403C>G	NM_001024383.2	NP_001019554.1:p.(Gln135Glu)	NC_000012.11:g.78334902C>G	(Likely) benign	1 lab	9bd74d087c
14:77765124 POMT2 G>A	14	77765124	77765124	G	A	POMT2	c.924-10C>T	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77765124G>A	(Likely) benign	1 lab	9bd774f52c
16:6367066 RBFOX1 C>T	16	6367066	6367066	C	T	RBFOX1	c.-64+8C>T	NM_001364800.1	NP_001351729.1:p.?	NC_000016.9:g.6367066C>T	(Likely) benign	1 lab	9bd7e217ae
16:57950023 CNGB1 C>A	16	57950023	57950023	C	A	CNGB1	c.2217+10G>T	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57950023C>A	(Likely) benign	1 lab	9bd832f8ab
2:31572992 XDH G>A	2	31572992	31572992	G	A	XDH	c.2729C>T	NM_000379.3	NP_000370.2:p.(Thr910Met)	NC_000002.11:g.31572992G>A	(Likely) pathogenic	1 lab	9bda196404
10:102782005 PDZD7 C>T	10	102782005	102782005	C	T	PDZD7	c.680G>A	NM_001195263.1	NP_001182192.1:p.(Arg227His)	NC_000010.10:g.102782005C>T	VUS	1 lab	9bdb3cdaed
X:100509879 DRP2 G>A	X	100509879	100509879	G	A	DRP2	c.2146G>A	NM_001939.2	NP_001930.2:p.(Asp716Asn)	NC_000023.10:g.100509879G>A	VUS	1 lab	9bdc2738d6
14:24620810 RNF31 G>C	14	24620810	24620810	G	C	RNF31	c.1854G>C	NM_017999.5	NP_060469.4:p.(Glu618Asp)	NC_000014.8:g.24620810G>C	VUS	1 lab	9bdcefcd01
2:130912841 SMPD4 C>T	2	130912841	130912841	C	T	SMPD4	c.1407-9G>A	NM_017951.4	NP_060421.2:p.?	NC_000002.11:g.130912841C>T	(Likely) pathogenic	1 lab	9bde89094f
X:47918638 ZNF630 G>A	X	47918638	47918638	G	A	ZNF630	c.1193C>T	NM_001282201.1	NP_001269130.1:p.(Thr398Ile)	NC_000023.10:g.47918638G>A	VUS	1 lab	9bdf78c0e9
12:102154949 GNPTAB G>A	12	102154949	102154949	G	A	GNPTAB	c.3091C>T	NM_024312.4	NP_077288.2:p.(Arg1031Ter)	NC_000012.11:g.102154949G>A	(Likely) pathogenic	1 lab	9be09a36cc
5:176520291 FGFR4 G>C	5	176520291	176520291	G	C	FGFR4	c.1210G>C	NM_213647.2	NP_998812.1:p.(Ala404Pro)	NC_000005.9:g.176520291G>C	(Likely) benign	1 lab	9be0c345d0
X:153129907 L1CAM C>A	X	153129907	153129907	C	A	L1CAM	c.3192G>T	NM_001278116.1	NP_001265045.1:p.(Ser1064=)	NC_000023.10:g.153129907C>A	(Likely) benign	1 lab	9be1115aa0
14:77893972 VIPAS39 C>T	14	77893972	77893972	C	T	VIPAS39	c.1469G>A	NM_001193314.1	NP_001180243.1:p.(Arg490Gln)	NC_000014.8:g.77893972C>T	VUS	1 lab	9be1c2154b
6:51613146 PKHD1 T>C	6	51613146	51613146	T	C	PKHD1	c.9268A>G	NM_138694.3	NP_619639.3:p.(Asn3090Asp)	NC_000006.11:g.51613146T>C	(Likely) benign	1 lab	9be21b2057
X:48932832 WDR45 G>A	X	48932832	48932832	G	A	WDR45	c.939C>T	NM_007075.3	NP_009006.2:p.(Phe313=)	NC_000023.10:g.48932832G>A	(Likely) benign	1 lab	9be3f3e32e
19:55670513 DNAAF3 C>T	19	55670513	55670513	C	T	DNAAF3	c.1381G>A	NM_001256716.1	NP_001243645.1:p.(Gly461Ser)	NC_000019.9:g.55670513C>T	(Likely) benign	1 lab	9be4439eb0
14:21813285 RPGRIP1 C>T	14	21813285	21813285	C	T	RPGRIP1	c.3546C>T	NM_020366.3	NP_065099.3:p.(Asp1182=)	NC_000014.8:g.21813285C>T	(Likely) benign	1 lab	9be4cae08b
17:78058802 CCDC40 A>G	17	78058802	78058802	A	G	CCDC40	c.2235+15A>G	NM_017950.3	NP_060420.2:p.?	NC_000017.10:g.78058802A>G	(Likely) benign	1 lab	9be5a3804f
19:17892318 FCHO1 C>T	19	17892318	17892318	C	T	FCHO1	c.1798C>T	NM_001161357.1	NP_001154829.1:p.(Arg600Trp)	NC_000019.9:g.17892318C>T	VUS	1 lab	9be5c55138
5:177657067 PHYKPL G>T	5	177657067	177657067	G	T	PHYKPL	c.89C>A	NM_001278346.1	NP_001265275.1:p.(Ala30Glu)	NC_000005.9:g.177657067G>T	(Likely) benign	1 lab	9be73451a6
5:11411638 CTNND2 C>T	5	11411638	11411638	C	T	CTNND2	c.439+10G>A	NM_001332.3	NP_001323.1:p.?	NC_000005.9:g.11411638C>T	(Likely) benign	1 lab	9bea3044d8
12:33031915 PKP2 A>G	12	33031915	33031915	A	G	PKP2	c.275T>C	NM_004572.3	NP_004563.2:p.(Leu92Ser)	NC_000012.11:g.33031915A>G	VUS	1 lab	9beadeb05c
19:51295022 ACP4 C>T	19	51295022	51295022	C	T	ACP4	c.413C>T	NM_033068.2	NP_149059.1:p.(Pro138Leu)	NC_000019.9:g.51295022C>T	VUS	1 lab	9beafbdcf9
10:73574996 CDH23 C>T	10	73574996	73574996	C	T	CDH23	c.10026C>T	NM_022124.5	NP_071407.4:p.(Asp3342=)	NC_000010.10:g.73574996C>T	(Likely) benign	1 lab	9beba4ab39
7:92404051 CDK6 C>T	7	92404051	92404051	C	T	CDK6	c.328G>A	NM_001145306.1	NP_001138778.1:p.(Asp110Asn)	NC_000007.13:g.92404051C>T	VUS	1 lab	9bebd09605
7:107599827 LAMB1 G>A	7	107599827	107599827	G	A	LAMB1	c.2557C>T	NM_002291.2	NP_002282.2:p.(Arg853Trp)	NC_000007.13:g.107599827G>A	VUS	1 lab	9bebf69ca1
2:234969038 SPP2 T>C	2	234969038	234969038	T	C	SPP2	c.359T>C	NM_006944.2	NP_008875.1:p.(Val120Ala)	NC_000002.11:g.234969038T>C	VUS	1 lab	9bedc42f6a
15:35084261 ACTC1 C>T	15	35084261	35084261	C	T	ACTC1	c.808+30G>A	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35084261C>T	(Likely) benign	1 lab	9bee1ef65e
9:37780795 EXOSC3 T>G	9	37780795	37780795	T	G	EXOSC3	c.709A>C	NM_016042.3	NP_057126.2:p.(Ile237Leu)	NC_000009.11:g.37780795T>G	VUS	1 lab	9bef123a93
1:59125783 MYSM1 G>C	1	59125783	59125783	G	C	MYSM1	c.2373C>G	NM_001085487.3	NP_001078956.1:p.(Cys791Trp)	NC_000001.10:g.59125783G>C	VUS	1 lab	9bef4cc28d
15:40917588 KNL1 A>G	15	40917588	40917588	A	G	KNL1	c.5204A>G	NM_170589.4	NP_733468.3:p.(Gln1735Arg)	NC_000015.9:g.40917588A>G	VUS	1 lab	9bef828cda
13:39263660 FREM2 C>T	13	39263660	39263660	C	T	FREM2	c.2179C>T	NM_207361.5	NP_997244.4:p.(Arg727Cys)	NC_000013.10:g.39263660C>T	VUS	1 lab	9bf0c48ca1
X:41075692 USP9X A>G	X	41075692	41075692	A	G	USP9X	c.5872A>G	NM_001039591.3	NP_001034680.2:p.(Thr1958Ala)	NC_000023.10:g.41075692A>G	(Likely) benign	1 lab	9bf0eba4f5
9:135801065 TSC1 G>T	9	135801065	135801065	G	T	TSC1	c.272C>A	NM_000368.4	NP_000359.1:p.(Ser91Ter)	NC_000009.11:g.135801065G>T	(Likely) pathogenic	1 lab	9bf202f6d6
3:53766050 CACNA1D T>C	3	53766050	53766050	T	C	CACNA1D	c.2474T>C	NM_000720.3	NP_000711.1:p.(Ile825Thr)	NC_000003.11:g.53766050T>C	VUS	1 lab	9bf53b486c
6:152583268 SYNE1 C>T	6	152583268	152583268	C	T	SYNE1	c.18871G>A	NM_182961.3	NP_892006.3:p.(Ala6291Thr)	NC_000006.11:g.152583268C>T	(Likely) benign	1 lab	9bf58b09eb
2:209007363 CRYGB C>T	2	209007363	209007363	C	T	CRYGB	c.527G>A	NM_005210.3	NP_005201.2:p.(Ter176=)	NC_000002.11:g.209007363C>T	(Likely) benign	1 lab	9bf657af35
17:2275531 SGSM2 C>T	17	2275531	2275531	C	T	SGSM2	c.1625C>T	NM_014853.2	NP_055668.2:p.(Ser542Phe)	NC_000017.10:g.2275531C>T	VUS	1 lab	9bf6a4c31f
6:41877241 MED20 C>A	6	41877241	41877241	C	A	MED20	c.3G>T	NM_001305456.1	NP_001292385.1:p.(Met1?)	NC_000006.11:g.41877241C>A	VUS	1 lab	9bf889ff54
X:18942243 PHKA2 C>T	X	18942243	18942243	C	T	PHKA2	c.1724G>A	NM_000292.2	NP_000283.1:p.(Gly575Asp)	NC_000023.10:g.18942243C>T	(Likely) benign	1 lab	9bf8df4448
12:56118124 RDH5 G>A	12	56118124	56118124	G	A	RDH5	c.752G>A	NM_001199771.1	NP_001186700.1:p.(Arg251His)	NC_000012.11:g.56118124G>A	(Likely) benign	1 lab	9bffc0d7ff
19:15272169 NOTCH3 G>A	19	15272169	15272169	G	A	NOTCH3	c.6270C>T	NM_000435.2	NP_000426.2:p.(Gly2090=)	NC_000019.9:g.15272169G>A	(Likely) benign	1 lab	9c00030905
19:11534630 MISSING C>T	19	11534630	11534630	C	T	MISSING				NC_000019.9:g.11534630C>T	(Likely) benign	1 lab	9c01a7fb6b
15:100537803 ADAMTS17 C>A	15	100537803	100537803	C	A	ADAMTS17	c.2592-9G>T	NM_139057.3	NP_620688.2:p.?	NC_000015.9:g.100537803C>A	(Likely) benign	1 lab	9c03c25ea0
2:179632733 TTN CA>C	2	179632733	179632735	CA	C	TTN	c.9305+7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179632735del	(Likely) benign	1 lab	9c05a2625f
7:103207230 RELN G>C	7	103207230	103207230	G	C	RELN	c.4589-24C>G	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103207230G>C	(Likely) benign	1 lab	9c0880d1fb
5:180057001 FLT4 G>A	5	180057001	180057001	G	A	FLT4	c.618C>T	NM_182925.4	NP_891555.2:p.(Cys206=)	NC_000005.9:g.180057001G>A	(Likely) benign	1 lab	9c0d01e59e
X:3238590 MXRA5 G>A	X	3238590	3238590	G	A	MXRA5	c.5136C>T	NM_015419.3	NP_056234.2:p.(Asn1712=)	NC_000023.10:g.3238590G>A	(Likely) benign	1 lab	9c0d543393
1:216373186 USH2A G>A	1	216373186	216373186	G	A	USH2A	c.3594C>T	NM_206933.2	NP_996816.2:p.(Tyr1198=)	NC_000001.10:g.216373186G>A	(Likely) benign	1 lab	9c0d74fd09
8:145139335 GPAA1 C>T	8	145139335	145139335	C	T	GPAA1	c.833C>T	NM_003801.4	NP_003792.1:p.(Thr278Ile)	NC_000008.10:g.145139335C>T	(Likely) benign	1 lab	9c0ed68cc0
16:84043443 SLC38A8 G>T	16	84043443	84043443	G	T	SLC38A8	c.1254C>A	NM_001080442.2	NP_001073911.1:p.(Val418=)	NC_000016.9:g.84043443G>T	VUS	1 lab	9c15a5bb35
19:51890512 LIM2 G>A	19	51890512	51890512	G	A	LIM2	c.186C>T	NM_030657.3	NP_085915.2:p.(Pro62=)	NC_000019.9:g.51890512G>A	(Likely) benign	1 lab	9c167913f2
X:70330033 IL2RG G>A	X	70330033	70330033	G	A	IL2RG	c.567C>T	NM_000206.2	NP_000197.1:p.(Tyr189=)	NC_000023.10:g.70330033G>A	(Likely) benign	1 lab	9c1922c4ce
X:103495133 ESX1 C>T	X	103495133	103495133	C	T	ESX1	c.997G>A	NM_153448.3	NP_703149.1:p.(Gly333Arg)	NC_000023.10:g.103495133C>T	VUS	1 lab	9c1b2c304e
1:16261122 SPEN G>C	1	16261122	16261122	G	C	SPEN	c.8387G>C	NM_015001.2	NP_055816.2:p.(Arg2796Pro)	NC_000001.10:g.16261122G>C	VUS	1 lab	9c1c3c0588
16:72832618 ZFHX3 TA>T	16	72832618	72832634	TA	T	ZFHX3	c.3968-6del	NM_006885.4	NP_008816.3:p.?	NC_000016.9:g.72832634del	(Likely) benign	1 lab	9c1f9bc780
16:10995389 CIITA C>T	16	10995389	10995389	C	T	CIITA	c.458C>T	NM_001286402.1	NP_001273331.1:p.(Pro153Leu)	NC_000016.9:g.10995389C>T	VUS	1 lab	9c1fb5e921
X:43817727 NDP A>G	X	43817727	43817727	A	G	NDP	c.165T>C	NM_000266.3	NP_000257.1:p.(Cys55=)	NC_000023.10:g.43817727A>G	(Likely) benign	1 lab	9c20f2e7cd
2:71825860 DYSF C>T	2	71825860	71825860	C	T	DYSF	c.3738C>T	NM_001130981.1	NP_001124453.1:p.(Tyr1246=)	NC_000002.11:g.71825860C>T	(Likely) benign	1 lab	9c214b5e14
12:65116862 GNS T>TC	12	65116862	65116863	T	TC	GNS	c.1231dup	NM_002076.3	NP_002067.1:p.(Asp411GlyfsTer12)	NC_000012.11:g.65116863dup	(Likely) pathogenic	1 lab	9c2189a551
16:14339432 MRTFB A>G	16	14339432	14339432	A	G	MRTFB	c.1127A>G	NM_001308142.1	NP_001295071.1:p.(Asn376Ser)	NC_000016.9:g.14339432A>G	(Likely) benign	1 lab	9c2327f2a3
10:75675086 PLAU T>C	10	75675086	75675086	T	C	PLAU	c.997T>C	NM_001145031.1	NP_001138503.1:p.(Tyr333His)	NC_000010.10:g.75675086T>C	(Likely) benign	1 lab	9c24ff07a0
5:112174011 APC G>T	5	112174011	112174011	G	T	APC				NC_000005.9:g.112174011G>T	VUS	1 lab	9c2598ddb7
X:8138281 VCX2 G>A	X	8138281	8138281	G	A	VCX2	c.212C>T	NM_016378.3	NP_057462.2:p.(Pro71Leu)	NC_000023.10:g.8138281G>A	(Likely) benign	1 lab	9c2a9094e0
6:31936746 SKIC2 G>C	6	31936746	31936746	G	C	SKIC2	c.3279G>C	NM_006929.4	NP_008860.4:p.(Glu1093Asp)	NC_000006.11:g.31936746G>C	VUS	1 lab	9c2ccd1aeb
11:70332312 SHANK2 G>A	11	70332312	70332312	G	A	SHANK2	c.4086C>T	NM_012309.4	NP_036441.2:p.(Ser1362=)	NC_000011.9:g.70332312G>A	(Likely) benign	1 lab	9c2cda89c4
17:78184711 SGSH G>A	17	78184711	78184711	G	A	SGSH	c.1049C>T	NM_000199.4	NP_000190.1:p.(Pro350Leu)	NC_000017.10:g.78184711G>A	VUS	1 lab	9c2db3e2f1
12:66700196 HELB C>T	12	66700196	66700196	C	T	HELB	c.679C>T	NM_033647.4	NP_387467.2:p.(Arg227Ter)	NC_000012.11:g.66700196C>T	(Likely) pathogenic	1 lab	9c2f37dc91
X:150349067 GPR50 G>A	X	150349067	150349067	G	A	GPR50	c.1012G>A	NM_004224.3	NP_004215.2:p.(Ala338Thr)	NC_000023.10:g.150349067G>A	(Likely) benign	1 lab	9c2f93a927
2:179430997 TTN G>A	2	179430997	179430997	G	A	TTN	c.79862C>T	NM_001267550.1	NP_001254479.1:p.(Thr26621Met)	NC_000002.11:g.179430997G>A	(Likely) benign	1 lab	9c2fbc80c3
17:29586065 NF1 G>A	17	29586065	29586065	G	A	NF1	c.4285G>A	NM_000267.3	NP_000258.1:p.(Ala1429Thr)	NC_000017.10:g.29586065G>A	VUS	1 lab	9c318c8ed6
15:62210451 VPS13C T>G	15	62210451	62210451	T	G	VPS13C	c.7644A>C	NM_001018088.2	NP_001018098.1:p.(Lys2548Asn)	NC_000015.9:g.62210451T>G	VUS	1 lab	9c332a84ea
5:149441304 CSF1R G>A	5	149441304	149441304	G	A	CSF1R	c.1735C>T	NM_005211.3	NP_005202.2:p.(Arg579Trp)	NC_000005.9:g.149441304G>A	VUS	1 lab	9c341b3e09
17:29654762 NF1 T>C	17	29654762	29654762	T	C	NF1	c.5451T>C	NM_000267.3	NP_000258.1:p.(Ser1817=)	NC_000017.10:g.29654762T>C	(Likely) benign	1 lab	9c355c3504
1:171605290 MYOC G>A	1	171605290	171605290	G	A	MYOC	c.1290C>T	NM_000261.1	NP_000252.1:p.(Phe430=)	NC_000001.10:g.171605290G>A	(Likely) benign	1 lab	9c3563deb6
10:74326388 MICU1 C>T	10	74326388	74326388	C	T	MICU1	c.161+3G>A	NM_006077.3	NP_006068.2:p.?	NC_000010.10:g.74326388C>T	(Likely) benign	1 lab	9c37674bde
X:153697521 PLXNA3 G>A	X	153697521	153697521	G	A	PLXNA3	c.4557G>A	NM_017514.4	NP_059984.3:p.(Pro1519=)	NC_000023.10:g.153697521G>A	(Likely) benign	1 lab	9c3807125a
19:50902313 POLD1 A>G	19	50902313	50902313	A	G	POLD1	c.202+3A>G	NM_001308632.1	NP_001295561.1:p.?	NC_000019.9:g.50902313A>G	(Likely) benign	1 lab	9c841098fa
20:32358018 ZNF341 G>A	20	32358018	32358018	G	A	ZNF341	c.1542G>A	NM_001282933.1	NP_001269862.1:p.(Ser514=)	NC_000020.10:g.32358018G>A	(Likely) benign	1 lab	9c38bd7be4
3:50385235 NPRL2 G>T	3	50385235	50385235	G	T	NPRL2	c.1030C>A	NM_006545.4	NP_006536.3:p.(Leu344Ile)	NC_000003.11:g.50385235G>T	VUS	1 lab	9c39e9de3a
1:31425154 PUM1 T>C	1	31425154	31425154	T	C	PUM1	c.2648A>G	NM_001020658.1	NP_001018494.1:p.(Asn883Ser)	NC_000001.10:g.31425154T>C	(Likely) benign	1 lab	9c39efae49
X:107838742 COL4A5 A>G	X	107838742	107838742	A	G	COL4A5	c.1427A>G	NM_033380.2	NP_203699.1:p.(Asp476Gly)	NC_000023.10:g.107838742A>G	VUS	1 lab	9c3a271c4a
1:235922765 LYST C>T	1	235922765	235922765	C	T	LYST	c.6388G>A	NM_001301365.1	NP_001288294.1:p.(Asp2130Asn)	NC_000001.10:g.235922765C>T	(Likely) benign	1 lab	9c3a356c84
9:77390941 TRPM6 G>A	9	77390941	77390941	G	A	TRPM6	c.3261C>T	NM_017662.4	NP_060132.3:p.(Asn1087=)	NC_000009.11:g.77390941G>A	(Likely) benign	1 lab	9c3c61c375
17:7404380 POLR2A TCTA>T	17	7404380	7404385	TCTA	T	POLR2A	c.2006_2008del	NM_000937.5	NP_000928.1:p.(Tyr669del)	NC_000017.10:g.7404383_7404385del	VUS	1 lab	9c3dfc522e
7:7612535 MIOS A>G	7	7612535	7612535	A	G	MIOS	c.429A>G	NM_019005.4	NP_061878.3:p.(Leu143=)	NC_000007.13:g.7612535A>G	(Likely) benign	1 lab	9c3e5eea87
17:66364769 ARSG C>T	17	66364769	66364769	C	T	ARSG	c.785C>T	NM_001352910.1	NP_001339839.1:p.(Ala262Val)	NC_000017.10:g.66364769C>T	VUS	1 lab	9c3e8e0195
X:39922877 BCOR G>A	X	39922877	39922877	G	A	BCOR	c.3831C>T	NM_001123385.1	NP_001116857.1:p.(Pro1277=)	NC_000023.10:g.39922877G>A	(Likely) benign	1 lab	9c3ec2c079
4:15603047 CC2D2A A>G	4	15603047	15603047	A	G	CC2D2A	c.4862A>G	NM_001080522.2	NP_001073991.2:p.(Ter1621=)	NC_000004.11:g.15603047A>G	(Likely) benign	1 lab	9c3f24e3b6
7:99808714 STAG3 A>C	7	99808714	99808714	A	C	STAG3	c.3319A>C	NM_001282717.1	NP_001269646.1:p.(Thr1107Pro)	NC_000007.13:g.99808714A>C	VUS	1 lab	9c4241aeb2
1:10032209 NMNAT1 G>A	1	10032209	10032209	G	A	NMNAT1	c.78G>A	NM_001297778.1	NP_001284707.1:p.(Arg26=)	NC_000001.10:g.10032209G>A	(Likely) benign	1 lab	9c44747650
2:170003264 LRP2 C>T	2	170003264	170003264	C	T	LRP2	c.12796G>A	NM_004525.3	NP_004516.2:p.(Val4266Ile)	NC_000002.11:g.170003264C>T	(Likely) benign	1 lab	9c45e557b4
19:50795539 MYH14 C>T	19	50795539	50795539	C	T	MYH14	c.5149C>T	NM_001145809.1	NP_001139281.1:p.(Arg1717Trp)	NC_000019.9:g.50795539C>T	VUS	1 lab	9c46506fcf
5:149513438 PDGFRB C>A	5	149513438	149513438	C	A	PDGFRB	c.759+6G>T	NM_002609.3	NP_002600.1:p.?	NC_000005.9:g.149513438C>A	(Likely) benign	1 lab	9c46cd54f4
6:160493855 IGF2R C>T	6	160493855	160493855	C	T	IGF2R	c.4629C>T	NM_000876.3	NP_000867.2:p.(Ser1543=)	NC_000006.11:g.160493855C>T	(Likely) benign	1 lab	9c473be9f3
21:45924771 TSPEAR G>A	21	45924771	45924771	G	A	TSPEAR	c.1551-7C>T	NM_001272037.1	NP_001258966.1:p.?	NC_000021.8:g.45924771G>A	(Likely) benign	1 lab	9c47676759
16:16205325 ABCC1 G>A	16	16205325	16205325	G	A	ABCC1	c.2965G>A	NM_004996.3	NP_004987.2:p.(Ala989Thr)	NC_000016.9:g.16205325G>A	(Likely) benign	1 lab	9c47ce7673
X:19398310 MAP3K15 G>A	X	19398310	19398310	G	A	MAP3K15	c.2517C>T	NM_001001671.3	NP_001001671.3:p.(Cys839=)	NC_000023.10:g.19398310G>A	(Likely) benign	1 lab	9c47dadfe4
9:135781467 TSC1 G>A	9	135781467	135781467	G	A	TSC1	c.1498C>T	NM_000368.4	NP_000359.1:p.(Arg500Ter)	NC_000009.11:g.135781467G>A	(Likely) pathogenic	1 lab	9c4864fbba
19:49661125 TRPM4 T>C	19	49661125	49661125	T	C	TRPM4	c.2T>C	NM_017636.3	NP_060106.2:p.(Met1?)	NC_000019.9:g.49661125T>C	VUS	1 lab	9c49f93486
16:72132929 DHX38 C>T	16	72132929	72132929	C	T	DHX38	c.868C>T	NM_014003.3	NP_054722.2:p.(Leu290=)	NC_000016.9:g.72132929C>T	(Likely) benign	1 lab	9c4a5660d9
16:53476640 RBL2 C>T	16	53476640	53476640	C	T	RBL2	c.442C>T	NM_005611.4	NP_005602.3:p.(Arg148Cys)	NC_000016.9:g.53476640C>T	VUS	1 lab	9c4a5cdbd3
7:35242354 TBX20 C>T	7	35242354	35242354	C	T	TBX20	c.1032G>A	NM_001077653.2	NP_001071121.1:p.(Leu344=)	NC_000007.13:g.35242354C>T	(Likely) benign	1 lab	9c4ab167bc
19:5082497 KDM4B C>T	19	5082497	5082497	C	T	KDM4B	c.900C>T	NM_015015.3	NP_055830.1:p.(Tyr300=)	NC_000019.9:g.5082497C>T	(Likely) benign	1 lab	9c4d70c1e9
7:94268657 SGCE T>C	7	94268657	94268657	T	C	SGCE	c.18A>G	NM_001346719.1	NP_001333648.1:p.(Lys6=)	NC_000007.13:g.94268657T>C	(Likely) benign	1 lab	9c4e23d147
7:100773702 SERPINE1 A>T	7	100773702	100773702	A	T	SERPINE1	c.272A>T	NM_000602.4	NP_000593.1:p.(Asp91Val)	NC_000007.13:g.100773702A>T	VUS	1 lab	9c4e649a16
X:84559457 POF1B A>C	X	84559457	84559457	A	C	POF1B	c.1458T>G	NM_024921.3	NP_079197.3:p.(His486Gln)	NC_000023.10:g.84559457A>C	(Likely) benign	1 lab	9c4e9d7130
3:47449865 PTPN23 C>T	3	47449865	47449865	C	T	PTPN23	c.1215C>T	NM_015466.3	NP_056281.1:p.(Pro405=)	NC_000003.11:g.47449865C>T	(Likely) benign	1 lab	9c4f252f51
10:16911754 CUBN A>G	10	16911754	16911754	A	G	CUBN	c.9335T>C	NM_001081.3	NP_001072.2:p.(Phe3112Ser)	NC_000010.10:g.16911754A>G	VUS	1 lab	9c5006ba24
6:160445698 IGF2R C>T	6	160445698	160445698	C	T	IGF2R	c.608C>T	NM_000876.3	NP_000867.2:p.(Pro203Leu)	NC_000006.11:g.160445698C>T	(Likely) benign	1 lab	9c513bf391
16:57693506 ADGRG1 G>A	16	57693506	57693506	G	A	ADGRG1	c.1486G>A	NM_005682.6	NP_005673.3:p.(Glu496Lys)	NC_000016.9:g.57693506G>A	(Likely) pathogenic	1 lab	9c51f20e06
12:133306767 ANKLE2 T>C	12	133306767	133306767	T	C	ANKLE2	c.1981A>G	NM_015114.2	NP_055929.1:p.(Asn661Asp)	NC_000012.11:g.133306767T>C	(Likely) benign	1 lab	9c526ca0da
9:117848502 TNC C>T	9	117848502	117848502	C	T	TNC	c.1508G>A	NM_002160.3	NP_002151.2:p.(Arg503Lys)	NC_000009.11:g.117848502C>T	(Likely) benign	1 lab	9c545356a3
2:168114467 XIRP2 A>G	2	168114467	168114467	A	G	XIRP2	c.1510A>G	NM_001199143.1	NP_001186072.1:p.(Lys504Glu)	NC_000002.11:g.168114467A>G	(Likely) benign	1 lab	9c54eb6817
7:91830630 KRIT1 ATG>A	7	91830630	91830633	ATG	A	KRIT1	c.2131_2132del	NM_194454.3	NP_919436.1:p.(His711TyrfsTer22)	NC_000007.13:g.91830632_91830633del	(Likely) pathogenic	1 lab	9c5570a8ab
12:40699593 LRRK2 C>G	12	40699593	40699593	C	G	LRRK2	c.3784C>G	NM_198578.3	NP_940980.3:p.(Pro1262Ala)	NC_000012.11:g.40699593C>G	(Likely) benign	1 lab	9c55c3a4d7
7:141349121 AGK TTATAAC>T	7	141349121	141349131	TTATAAC	T	AGK	c.1039_1044del	NM_018238.4	NP_060708.1:p.(Thr347_Ile348del)	NC_000007.13:g.141349126_141349131del	VUS	1 lab	9c568ec274
16:2129583 TSC2 C>T	16	2129583	2129583	C	T	TSC2	c.3310C>T	NM_000548.3	NP_000539.2:p.(Gln1104Ter)	NC_000016.9:g.2129583C>T	(Likely) pathogenic	1 lab	9c56ae67d4
5:137521707 KIF20A T>C	5	137521707	137521707	T	C	KIF20A	c.2183T>C	NM_005733.3	NP_005724.1:p.(Ile728Thr)	NC_000005.9:g.137521707T>C	(Likely) benign	1 lab	9c579d9b2e
3:12580742 TSEN2 C>A	3	12580742	12580742	C	A	TSEN2	c.1421C>A	NM_001321278.1	NP_001308207.1:p.(Ser474Ter)	NC_000003.11:g.12580742C>A	VUS	1 lab	9c57fb5e44
1:12061493 MFN2 C>T	1	12061493	12061493	C	T	MFN2	c.852C>T	NM_014874.3	NP_055689.1:p.(Phe284=)	NC_000001.10:g.12061493C>T	(Likely) benign	1 lab	9c5a350cff
12:48375586 COL2A1 AG>A	12	48375586	48375592	AG	A	COL2A1	c.2381del	NM_001844.5	NP_001835.3:p.(Pro794LeufsTer87)	NC_000012.11:g.48375592del	(Likely) pathogenic	1 lab	9c5cda3fed
20:42744403 JPH2 G>C	20	42744403	42744403	G	C	JPH2	c.1912C>G	NM_020433.4	NP_065166.2:p.(Arg638Gly)	NC_000020.10:g.42744403G>C	(Likely) benign	1 lab	9c5d104c6b
11:67375937 NDUFV1 G>A	11	67375937	67375937	G	A	NDUFV1	c.143G>A	NM_007103.3	NP_009034.2:p.(Arg48His)	NC_000011.9:g.67375937G>A	VUS	1 lab	9c5ed42e53
2:27676950 IFT172 C>G	2	27676950	27676950	C	G	IFT172	c.3610G>C	NM_015662.2	NP_056477.1:p.(Val1204Leu)	NC_000002.11:g.27676950C>G	(Likely) benign	1 lab	9c60184f0f
1:215955518 USH2A G>T	1	215955518	215955518	G	T	USH2A	c.10606C>A	NM_206933.2	NP_996816.2:p.(Leu3536Ile)	NC_000001.10:g.215955518G>T	(Likely) benign	1 lab	9c60cebd48
16:9000312 USP7 C>A	16	9000312	9000312	C	A	USP7	c.1102G>T	NM_001286458.1	NP_001273387.1:p.(Val368Phe)	NC_000016.9:g.9000312C>A	VUS	1 lab	9c6192836a
1:1458886 ATAD3A G>A	1	1458886	1458886	G	A	ATAD3A	c.1051-5G>A	NM_018188.4	NP_060658.3:p.?	NC_000001.10:g.1458886G>A	VUS	1 lab	9c63620b19
13:110850787 COL4A1 C>T	13	110850787	110850787	C	T	COL4A1	c.1285+27G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110850787C>T	(Likely) benign	1 lab	9c78642a9f
16:2161572 PKD1 C>G	16	2161572	2161572	C	G	PKD1	c.3596G>C	NM_001009944.2	NP_001009944.2:p.(Gly1199Ala)	NC_000016.9:g.2161572C>G	(Likely) benign	1 lab	9c6947d027
4:73205360 ADAMTS3 G>C	4	73205360	73205360	G	C	ADAMTS3	c.712C>G	NM_014243.2	NP_055058.2:p.(His238Asp)	NC_000004.11:g.73205360G>C	(Likely) benign	1 lab	9c6a366127
5:13811889 DNAH5 C>T	5	13811889	13811889	C	T	DNAH5	c.7274G>A	NM_001369.2	NP_001360.1:p.(Arg2425His)	NC_000005.9:g.13811889C>T	(Likely) benign	1 lab	9c6b5c809c
11:66335927 CTSF G>A	11	66335927	66335927	G	A	CTSF	c.31C>T	NM_003793.3	NP_003784.2:p.(Leu11=)	NC_000011.9:g.66335927G>A	(Likely) benign	1 lab	9c6bba7869
22:43019891 CYB5R3 C>T	22	43019891	43019891	C	T	CYB5R3	c.568G>A	NM_001129819.2	NP_001123291.1:p.(Glu190Lys)	NC_000022.10:g.43019891C>T	VUS	1 lab	9c6fb47794
14:105411187 AHNAK2 G>T	14	105411187	105411187	G	T	AHNAK2	c.10601C>A	NM_138420.3	NP_612429.2:p.(Ala3534Asp)	NC_000014.8:g.105411187G>T	VUS	1 lab	9c72046849
11:118375772 KMT2A T>C	11	118375772	118375772	T	C	KMT2A	c.9165T>C	NM_001197104.1	NP_001184033.1:p.(Asp3055=)	NC_000011.9:g.118375772T>C	(Likely) benign	1 lab	9c7331b416
9:133355785 ASS1 G>A	9	133355785	133355785	G	A	ASS1	c.787G>A	NM_000050.4	NP_000041.2:p.(Val263Met)	NC_000009.11:g.133355785G>A	(Likely) pathogenic	1 lab	9c75527780
1:228557763 OBSCN C>G	1	228557763	228557763	C	G	OBSCN	c.22959C>G	NM_001271223.2	NP_001258152.2:p.(Asp7653Glu)	NC_000001.10:g.228557763C>G	VUS	1 lab	9c7867447d
16:83932884 MLYCD C>T	16	83932884	83932884	C	T	MLYCD	c.135C>T	NM_012213.2	NP_036345.2:p.(Arg45=)	NC_000016.9:g.83932884C>T	(Likely) benign	1 lab	9c79a6722d
6:80878747 BCKDHB G>C	6	80878747	80878747	G	C	BCKDHB	c.633G>C	NM_183050.4	NP_898871.1:p.(Lys211Asn)	NC_000006.11:g.80878747G>C	VUS	1 lab	9c7c304599
15:90127571 TICRR A>G	15	90127571	90127571	A	G	TICRR	c.989A>G	NM_152259.3	NP_689472.3:p.(His330Arg)	NC_000015.9:g.90127571A>G	VUS	1 lab	9c7e410c67
X:135730446 CD40LG G>A	X	135730446	135730446	G	A	CD40LG	c.39G>A	NM_000074.2	NP_000065.1:p.(Ala13=)	NC_000023.10:g.135730446G>A	(Likely) benign	1 lab	9c7e47fe4c
11:74638466 XRRA1 G>A	11	74638466	74638466	G	A	XRRA1	c.468C>T	NM_182969.2	NP_892014.1:p.(Tyr156=)	NC_000011.9:g.74638466G>A	(Likely) benign	1 lab	9c7f6dba3a
X:2928174 ARSH C>T	X	2928174	2928174	C	T	ARSH	c.196C>T	NM_001011719.1	NP_001011719.1:p.(Arg66Trp)	NC_000023.10:g.2928174C>T	(Likely) benign	1 lab	9c80deb942
X:76938646 ATRX C>G	X	76938646	76938646	C	G	ATRX	c.2102G>C	NM_000489.5	NP_000480.3:p.(Arg701Pro)	NC_000023.10:g.76938646C>G	VUS	1 lab	9c82b3993e
X:148568478 IDS G>A	X	148568478	148568478	G	A	IDS	c.1158C>T	NM_000202.7	NP_000193.1:p.(Ser386=)	NC_000023.10:g.148568478G>A	(Likely) benign	1 lab	9c833bb617
2:202520956 MPP4 C>A	2	202520956	202520956	C	A	MPP4	c.1265G>T	NM_033066.2	NP_149055.1:p.(Arg422Leu)	NC_000002.11:g.202520956C>A	(Likely) benign	1 lab	9c83e9394d
X:38176617 RPGR G>A	X	38176617	38176617	G	A	RPGR	c.571C>T	NM_001034853.1	NP_001030025.1:p.(Pro191Ser)	NC_000023.10:g.38176617G>A	VUS	1 lab	9c85590968
4:79360163 FRAS1 T>C	4	79360163	79360163	T	C	FRAS1	c.5474T>C	NM_025074.7	NP_079350.5:p.(Met1825Thr)	NC_000004.11:g.79360163T>C	(Likely) benign	1 lab	9c87a1c0bc
20:57429560 GNAS G>A	20	57429560	57429560	G	A	GNAS	c.1240G>A	NM_080425.3	NP_536350.2:p.(Gly414Arg)	NC_000020.10:g.57429560G>A	(Likely) benign	1 lab	9c880f8aef
X:124455706 TEX13C C>T	X	124455706	124455706	C	T	TEX13C	c.1738C>T	NM_001195272.2	NP_001182201.1:p.(Pro580Ser)	NC_000023.10:g.124455706C>T	VUS	1 lab	9c89c8d34f
2:47703697 MSH2 G>A	2	47703697	47703697	G	A	MSH2	c.2197G>A	NM_000251.2	NP_000242.1:p.(Ala733Thr)	NC_000002.11:g.47703697G>A	VUS	1 lab	9c8b3ac571
3:52443859 BAP1 TG>T	3	52443859	52443862	TG	T	BAP1	c.35del	NM_004656.4	NP_004647.1:p.(Pro12GlnfsTer60)	NC_000003.11:g.52443862del	(Likely) pathogenic	1 lab	9c8ba986bc
17:18039042 MYO15A G>A	17	18039042	18039042	G	A	MYO15A	c.4500G>A	NM_016239.3	NP_057323.3:p.(Val1500=)	NC_000017.10:g.18039042G>A	(Likely) benign	1 lab	9c8d754abc
12:81101799 MYF6 C>A	12	81101799	81101799	C	A	MYF6	c.301C>A	NM_002469.2	NP_002460.1:p.(Arg101Ser)	NC_000012.11:g.81101799C>A	VUS	1 lab	9c8d962152
7:91855877 KRIT1 AT>A	7	91855877	91855880	AT	A	KRIT1	c.1108del	NM_194454.3	NP_919436.1:p.(Ile370Ter)	NC_000007.13:g.91855880del	(Likely) pathogenic	1 lab	9c8efd7016
X:153248091 TMEM187 A>G	X	153248091	153248091	A	G	TMEM187	c.578A>G	NM_003492.2	NP_003483.1:p.(Tyr193Cys)	NC_000023.10:g.153248091A>G	VUS	1 lab	9c9126777f
19:14034398 CC2D1A G>A	19	14034398	14034398	G	A	CC2D1A	c.1802G>A	NM_017721.4	NP_060191.3:p.(Gly601Asp)	NC_000019.9:g.14034398G>A	VUS	1 lab	9c918e2e49
16:14721038 PARN T>C	16	14721038	14721038	T	C	PARN	c.252A>G	NM_002582.4	NP_002573.1:p.(Ile84Met)	NC_000016.9:g.14721038T>C	(Likely) benign	1 lab	9c92e7e74b
2:241659289 KIF1A C>G	2	241659289	241659289	C	G	KIF1A	c.4923G>C	NM_001244008.1	NP_001230937.1:p.(Glu1641Asp)	NC_000002.11:g.241659289C>G	(Likely) benign	1 lab	9c9415e2c0
2:179398866 TTN A>G	2	179398866	179398866	A	G	TTN	c.102476T>C	NM_001267550.1	NP_001254479.1:p.(Ile34159Thr)	NC_000002.11:g.179398866A>G	(Likely) benign	1 lab	9c963f6c6b
1:877576 SAMD11 C>T	1	877576	877576	C	T	SAMD11	c.930C>T	NM_152486.3	NP_689699.2:p.(Gly310=)	NC_000001.10:g.877576C>T	(Likely) benign	1 lab	9c9640c0b5
X:48673359 HDAC6 G>A	X	48673359	48673359	G	A	HDAC6	c.1060-10G>A	NM_001321226.1	NP_001308155.1:p.?	NC_000023.10:g.48673359G>A	(Likely) benign	1 lab	9c96d73f69
3:47887816 DHX30 A>G	3	47887816	47887816	A	G	DHX30	c.1254A>G	NM_138615.3	NP_619520.1:p.(Leu418=)	NC_000003.11:g.47887816A>G	(Likely) benign	1 lab	9c98b360e0
12:70049580 BEST3 C>T	12	70049580	70049580	C	T	BEST3	c.1114G>A	NM_032735.3	NP_116124.2:p.(Asp372Asn)	NC_000012.11:g.70049580C>T	(Likely) benign	1 lab	9c98b63ef1
X:139866450 CDR1 A>G	X	139866450	139866450	A	G	CDR1	c.82T>C	NM_004065.2	NP_004056.2:p.(Leu28=)	NC_000023.10:g.139866450A>G	(Likely) benign	1 lab	9c993dcdc4
1:236925893 ACTN2 G>A	1	236925893	236925893	G	A	ACTN2	c.2659G>A	NM_001103.3	NP_001094.1:p.(Ala887Thr)	NC_000001.10:g.236925893G>A	VUS	1 lab	9c9aad9f27
2:179457159 TTN G>C	2	179457159	179457159	G	C	TTN	c.59573C>G	NM_001267550.1	NP_001254479.1:p.(Thr19858Arg)	NC_000002.11:g.179457159G>C	VUS	1 lab	9c9cafddc0
6:112476866 LAMA4 AGCC>A	6	112476866	112476869	AGCC	A	LAMA4	c.1857_1859del	NM_001105206.3	NP_001098676.2:p.(Lys619_Ala620delinsAsn)	NC_000006.11:g.112476867_112476869del	VUS	1 lab	9c9ccbd333
X:110973623 ALG13 G>A	X	110973623	110973623	G	A	ALG13	c.2135G>A	NM_001257231.1	NP_001244160.1:p.(Gly712Glu)	NC_000023.10:g.110973623G>A	(Likely) benign	1 lab	9c9d809414
X:153594724 FLNA T>C	X	153594724	153594724	T	C	FLNA	c.1180A>G	NM_001110556.2	NP_001104026.1:p.(Ser394Gly)	NC_000023.10:g.153594724T>C	VUS	1 lab	9c9f076312
5:140769731 MISSING G>A	5	140769731	140769731	G	A	MISSING				NC_000005.9:g.140769731G>A	(Likely) benign	1 lab	9ca1bac7a0
11:118391607 KMT2A C>T	11	118391607	118391607	C	T	KMT2A	c.11513+7C>T	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118391607C>T	(Likely) benign	1 lab	9ca2792c5e
3:48501929 ATRIP C>T	3	48501929	48501929	C	T	ATRIP	c.1476C>T	NM_130384.3	NP_569055.1:p.(Val492=)	NC_000003.11:g.48501929C>T	(Likely) benign	1 lab	9ca31d08d1
17:29685498 NF1 GC>G	17	29685498	29685499	GC	G	NF1	c.7972del	NM_001042492.3	NP_001035957.1:p.(His2658IlefsTer21)	NC_000017.10:g.29685499del	(Likely) pathogenic	1 lab	9ca3b8dd1c
1:152278046 FLG C>T	1	152278046	152278046	C	T	FLG	c.9316G>A	NM_002016.1	NP_002007.1:p.(Gly3106Ser)	NC_000001.10:g.152278046C>T	(Likely) benign	1 lab	9ca4c98e46
19:38610040 SIPA1L3 T>A	19	38610040	38610040	T	A	SIPA1L3	c.2386T>A	NM_015073.2	NP_055888.1:p.(Leu796Met)	NC_000019.9:g.38610040T>A	VUS	1 lab	9ca4faea03
X:34148943 FAM47A T>G	X	34148943	34148943	T	G	FAM47A	c.1453A>C	NM_203408.3	NP_981953.2:p.(Thr485Pro)	NC_000023.10:g.34148943T>G	VUS	1 lab	9ca53a3d59
19:42753034 ERF A>G	19	42753034	42753034	A	G	ERF	c.1230T>C	NM_006494.3	NP_006485.2:p.(Ala410=)	NC_000019.9:g.42753034A>G	(Likely) benign	1 lab	9ca5718e81
X:115592950 CT83 G>C	X	115592950	115592950	G	C	CT83	c.300C>G	NM_001017978.4	NP_001017978.1:p.(Ser100Arg)	NC_000023.10:g.115592950G>C	(Likely) benign	1 lab	9ca5d1bbaa
9:32543150 TOPORS A>G	9	32543150	32543150	A	G	TOPORS	c.1373T>C	NM_005802.4	NP_005793.2:p.(Ile458Thr)	NC_000009.11:g.32543150A>G	(Likely) benign	1 lab	9ca7351b39
2:241660409 KIF1A G>A	2	241660409	241660409	G	A	KIF1A	c.4790C>T	NM_001244008.1	NP_001230937.1:p.(Pro1597Leu)	NC_000002.11:g.241660409G>A	(Likely) benign	1 lab	9ca897891f
9:135797361 TSC1 C>G	9	135797361	135797361	C	G	TSC1	c.509-1G>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135797361C>G	(Likely) pathogenic	1 lab	9cab2c5d50
6:117631344 ROS1 T>C	6	117631344	117631344	T	C	ROS1	c.6334A>G	NM_002944.2	NP_002935.2:p.(Asn2112Asp)	NC_000006.11:g.117631344T>C	VUS	1 lab	9cac0ecff2
X:39913181 BCOR G>T	X	39913181	39913181	G	T	BCOR	c.4934C>A	NM_001123385.1	NP_001116857.1:p.(Pro1645His)	NC_000023.10:g.39913181G>T	VUS	1 lab	9cae6feba7
19:15572088 RASAL3 AC>A	19	15572088	15572091	AC	A	RASAL3	c.484del	NM_022904.3	NP_075055.1:p.(Val162TrpfsTer47)	NC_000019.9:g.15572091del	VUS	1 lab	9cb04fbbec
18:44063705 LOXHD1 C>T	18	44063705	44063705	C	T	LOXHD1	c.6000G>A	NM_144612.6	NP_653213.6:p.(Gly2000=)	NC_000018.9:g.44063705C>T	(Likely) benign	1 lab	9cb072fb7c
5:70785269 BDP1 G>A	5	70785269	70785269	G	A	BDP1	c.1252G>A	NM_018429.2	NP_060899.2:p.(Asp418Asn)	NC_000005.9:g.70785269G>A	VUS	1 lab	9cb3df84be
17:43363990 MAP3K14 G>T	17	43363990	43363990	G	T	MAP3K14	c.960C>A	NM_003954.5	NP_003945.2:p.(Pro320=)	NC_000017.10:g.43363990G>T	(Likely) benign	1 lab	9cb4730f1f
16:2103342 TSC2 G>A	16	2103342	2103342	G	A	TSC2	c.226-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2103342G>A	(Likely) pathogenic	1 lab	9cb50289ea
9:124089668 GSN C>T	9	124089668	124089668	C	T	GSN	c.1778C>T	NM_001127663.1	NP_001121135.2:p.(Thr593Ile)	NC_000009.11:g.124089668C>T	(Likely) benign	1 lab	9cbc40053f
10:26414394 MYO3A T>C	10	26414394	26414394	T	C	MYO3A	c.1971T>C	NM_017433.5	NP_059129.3:p.(Thr657=)	NC_000010.10:g.26414394T>C	(Likely) benign	1 lab	9cbd21f65f
20:61981426 CHRNA4 G>A	20	61981426	61981426	G	A	CHRNA4	c.1337C>T	NM_000744.6	NP_000735.1:p.(Pro446Leu)	NC_000020.10:g.61981426G>A	(Likely) benign	1 lab	9cbe5b9f0b
20:24994274 ACSS1 C>T	20	24994274	24994274	C	T	ACSS1	c.1471G>A	NM_001252675.1	NP_001239604.1:p.(Val491Ile)	NC_000020.10:g.24994274C>T	(Likely) benign	1 lab	9cbec6f8e5
15:42689039 CAPN3 G>A	15	42689039	42689039	G	A	CAPN3	c.1157G>A	NM_000070.2	NP_000061.1:p.(Arg386His)	NC_000015.9:g.42689039G>A	VUS	1 lab	9cbfb80503
19:44740223 ZNF227 C>T	19	44740223	44740223	C	T	ZNF227	c.1640C>T	NM_001289166.1	NP_001276095.1:p.(Pro547Leu)	NC_000019.9:g.44740223C>T	VUS	1 lab	9cbfe5f18f
7:1542732 INTS1 C>T	7	1542732	1542732	C	T	INTS1	c.154G>A	NM_001080453.3	NP_001073922.2:p.(Gly52Ser)	NC_000007.13:g.1542732C>T	(Likely) benign	1 lab	9cc08f6b5b
7:2587051 BRAT1 C>T	7	2587051	2587051	C	T	BRAT1	c.189G>A	NM_001350626.1	NP_001337555.1:p.(Leu63=)	NC_000007.13:g.2587051C>T	(Likely) benign	1 lab	9cc0a5ec23
11:17662483 OTOG C>T	11	17662483	17662483	C	T	OTOG	c.8071C>T	NM_001277269.1	NP_001264198.1:p.(Arg2691Cys)	NC_000011.9:g.17662483C>T	(Likely) benign	1 lab	9cc0a8ccd3
16:10995945 CIITA G>A	16	10995945	10995945	G	A	CIITA	c.535G>A	NM_001286402.1	NP_001273331.1:p.(Asp179Asn)	NC_000016.9:g.10995945G>A	(Likely) benign	1 lab	9cc447924a
6:70951673 COL9A1 A>C	6	70951673	70951673	A	C	COL9A1	c.1992T>G	NM_001851.4	NP_001842.3:p.(Gly664=)	NC_000006.11:g.70951673A>C	(Likely) benign	1 lab	9cc88a1744
3:124390619 KALRN G>A	3	124390619	124390619	G	A	KALRN	c.6813G>A	NM_001024660.4	NP_001019831.2:p.(Ala2271=)	NC_000003.11:g.124390619G>A	(Likely) benign	1 lab	9cc901fb86
19:16593537 CALR3 G>T	19	16593537	16593537	G	T	CALR3	c.738C>A	NM_145046.4	NP_659483.2:p.(Asp246Glu)	NC_000019.9:g.16593537G>T	(Likely) benign	1 lab	9cc961cbdc
3:45441864 LARS2 A>G	3	45441864	45441864	A	G	LARS2	c.362A>G	NM_015340.4	NP_056155.1:p.(Gln121Arg)	NC_000003.11:g.45441864A>G	VUS	1 lab	9cca0df1c7
X:136113567 GPR101 C>T	X	136113567	136113567	C	T	GPR101	c.267G>A	NM_054021.1	NP_473362.1:p.(Val89=)	NC_000023.10:g.136113567C>T	(Likely) benign	1 lab	9cca63edad
16:57784849 KATNB1 C>T	16	57784849	57784849	C	T	KATNB1	c.390+10C>T	NM_005886.2	NP_005877.2:p.?	NC_000016.9:g.57784849C>T	(Likely) benign	1 lab	9ccd1318fb
3:123471239 MYLK A>G	3	123471239	123471239	A	G	MYLK	c.312T>C	NM_053025.3	NP_444253.3:p.(Tyr104=)	NC_000003.11:g.123471239A>G	(Likely) benign	1 lab	9cce185516
15:43360237 UBR1 G>A	15	43360237	43360237	G	A	UBR1	c.660-3C>T	NM_174916.2	NP_777576.1:p.?	NC_000015.9:g.43360237G>A	(Likely) benign	1 lab	9ccf1a9ca8
7:5410522 TNRC18 G>A	7	5410522	5410522	G	A	TNRC18	c.3703C>T	NM_001080495.2	NP_001073964.2:p.(Arg1235Trp)	NC_000007.13:g.5410522G>A	VUS	1 lab	9ccf37c56d
10:95995760 PLCE1 A>C	10	95995760	95995760	A	C	PLCE1	c.2303A>C	NM_016341.3	NP_057425.3:p.(Asn768Thr)	NC_000010.10:g.95995760A>C	VUS	1 lab	9cd07cca60
11:93911731 PANX1 C>T	11	93911731	93911731	C	T	PANX1	c.518C>T	NM_015368.3	NP_056183.2:p.(Pro173Leu)	NC_000011.9:g.93911731C>T	VUS	1 lab	9cd111a094
5:61643950 KIF2A C>A	5	61643950	61643950	C	A	KIF2A	c.235C>A	NM_001098511.2	NP_001091981.1:p.(Pro79Thr)	NC_000005.9:g.61643950C>A	(Likely) pathogenic	1 lab	9cd187963e
10:24813282 KIAA1217 G>A	10	24813282	24813282	G	A	KIAA1217	c.2487G>A	NM_019590.5	NP_062536.2:p.(Thr829=)	NC_000010.10:g.24813282G>A	(Likely) benign	1 lab	9cd48bb137
3:151163318 IGSF10 C>G	3	151163318	151163318	C	G	IGSF10	c.4451G>C	NM_178822.4	NP_849144.2:p.(Arg1484Thr)	NC_000003.11:g.151163318C>G	(Likely) benign	1 lab	9cd5453685
19:6495211 TUBB4A G>A	19	6495211	6495211	G	A	TUBB4A	c.1083C>T	NM_001289130.1	NP_001276059.1:p.(Gly361=)	NC_000019.9:g.6495211G>A	VUS	1 lab	9cd5e6788f
13:49030386 RB1 C>A	13	49030386	49030386	C	A	RB1	c.1861C>A	NM_000321.2	NP_000312.2:p.(Arg621Ser)	NC_000013.10:g.49030386C>A	(Likely) benign	1 lab	9cd7d6aa8c
X:67937799 STARD8 C>T	X	67937799	67937799	C	T	STARD8	c.1043C>T	NM_001142503.2	NP_001135975.1:p.(Thr348Met)	NC_000023.10:g.67937799C>T	(Likely) benign	1 lab	9cd87ad8cc
11:608149 PHRF1 C>T	11	608149	608149	C	T	PHRF1	c.2690C>T	NM_020901.3	NP_065952.2:p.(Pro897Leu)	NC_000011.9:g.608149C>T	(Likely) benign	1 lab	9cda392f83
6:143086057 HIVEP2 G>A	6	143086057	143086057	G	A	HIVEP2	c.5397C>T	NM_006734.3	NP_006725.3:p.(Tyr1799=)	NC_000006.11:g.143086057G>A	(Likely) benign	1 lab	9cdb220573
X:153692041 PLXNA3 CG>C	X	153692041	153692046	CG	C	PLXNA3	c.1547+13del	NM_017514.5	NP_059984.3:p.?	NC_000023.10:g.153692046del	(Likely) benign	1 lab	9cdb78298b
5:127450339 SLC12A2 T>C	5	127450339	127450339	T	C	SLC12A2	c.1014T>C	NM_001046.2	NP_001037.1:p.(Thr338=)	NC_000005.9:g.127450339T>C	(Likely) benign	1 lab	9cdd12f748
X:48372730 PORCN C>T	X	48372730	48372730	C	T	PORCN	c.576C>T	NM_001282167.1	NP_001269096.1:p.(Thr192=)	NC_000023.10:g.48372730C>T	(Likely) benign	1 lab	9cdd28c62b
3:132432079 NPHP3 G>A	3	132432079	132432079	G	A	NPHP3	c.1009C>T	NM_153240.4	NP_694972.3:p.(His337Tyr)	NC_000003.11:g.132432079G>A	VUS	1 lab	9cdd531d96
2:198358185 HSPD1 A>C	2	198358185	198358185	A	C	HSPD1	c.732T>G	NM_199440.1	NP_955472.1:p.(Val244=)	NC_000002.11:g.198358185A>C	(Likely) benign	1 lab	9cdf8481b1
19:19338600 NCAN C>G	19	19338600	19338600	C	G	NCAN	c.2171C>G	NM_004386.3	NP_004377.2:p.(Ser724Cys)	NC_000019.9:g.19338600C>G	(Likely) benign	1 lab	9ce020633e
2:220312926 SPEG C>T	2	220312926	220312926	C	T	SPEG	c.1046C>T	NM_005876.4	NP_005867.3:p.(Thr349Ile)	NC_000002.11:g.220312926C>T	(Likely) benign	1 lab	9ce43a8935
3:50339825 HYAL1 T>C	3	50339825	50339825	T	C	HYAL1	c.563A>G	NM_153281.1	NP_695013.1:p.(Gln188Arg)	NC_000003.11:g.50339825T>C	(Likely) benign	1 lab	9ce5e27828
15:31327846 TRPM1 T>G	15	31327846	31327846	T	G	TRPM1	c.2654A>C	NM_001252020.1	NP_001238949.1:p.(Asn885Thr)	NC_000015.9:g.31327846T>G	VUS	1 lab	9ce6f64c9d
22:32889269 FBXO7 G>T	22	32889269	32889269	G	T	FBXO7	c.1144+1G>T	NM_012179.3	NP_036311.3:p.?	NC_000022.10:g.32889269G>T	(Likely) pathogenic	1 lab	9ce8c88741
16:88503394 ZNF469 C>G	16	88503394	88503394	C	G	ZNF469				NC_000016.9:g.88503394C>G	(Likely) benign	1 lab	9cecc970ee
1:237947771 RYR2 G>A	1	237947771	237947771	G	A	RYR2	c.12759G>A	NM_001035.2	NP_001026.2:p.(Leu4253=)	NC_000001.10:g.237947771G>A	(Likely) benign	1 lab	9cedea0297
15:67073618 SMAD6 C>T	15	67073618	67073618	C	T	SMAD6	c.1236C>T	NM_005585.4	NP_005576.3:p.(Val412=)	NC_000015.9:g.67073618C>T	(Likely) benign	1 lab	9ceecdcc84
16:2105429 TSC2 G>GTA	16	2105429	2105431	G	GTA	TSC2	c.509_510insAT	NM_000548.3	NP_000539.2:p.(Gly171LeufsTer12)	NC_000016.9:g.2105430_2105431insAT	(Likely) pathogenic	1 lab	9cef556840
20:62325754 RTEL1 G>A	20	62325754	62325754	G	A	RTEL1	c.3022G>A	NM_001283009.1	NP_001269938.1:p.(Val1008Met)	NC_000020.10:g.62325754G>A	(Likely) benign	1 lab	9cf3dafae0
18:7016605 LAMA1 G>A	18	7016605	7016605	G	A	LAMA1	c.2874C>T	NM_005559.3	NP_005550.2:p.(Ser958=)	NC_000018.9:g.7016605G>A	(Likely) benign	1 lab	9cf5c641af
5:169533378 FOXI1 A>G	5	169533378	169533378	A	G	FOXI1	c.417A>G	NM_012188.4	NP_036320.2:p.(Ala139=)	NC_000005.9:g.169533378A>G	(Likely) benign	1 lab	9cf62464d7
7:91842629 KRIT1 A>C	7	91842629	91842629	A	C	KRIT1	c.1905T>G	NM_004912.4	NP_004903.2:p.(Tyr635Ter)	NC_000007.13:g.91842629A>C	(Likely) pathogenic	1 lab	9cf76f8c49
19:54395887 PRKCG G>A	19	54395887	54395887	G	A	PRKCG	c.811G>A	NM_002739.3	NP_002730.1:p.(Val271Met)	NC_000019.9:g.54395887G>A	VUS	1 lab	9cf8d248c3
13:25458381 CPAP G>C	13	25458381	25458381	G	C	CPAP	c.3621C>G	NM_018451.4	NP_060921.3:p.(Ile1207Met)	NC_000013.10:g.25458381G>C	VUS	1 lab	9cf8f7ac7e
1:1421975 ATAD3B G>A	1	1421975	1421975	G	A	ATAD3B	c.1003G>A	NM_001317238.1	NP_001304167.1:p.(Val335Met)	NC_000001.10:g.1421975G>A	(Likely) benign	1 lab	9cfac6ce39
13:35770213 NBEA T>TCA	13	35770213	35770217	T	TCA	NBEA	c.5143_5144dup	NM_015678.4	NP_056493.3:p.(Gln1715HisfsTer5)	NC_000013.10:g.35770216_35770217dup	(Likely) pathogenic	1 lab	9cfb564f49
16:50815320 CYLD T>A	16	50815320	50815320	T	A	CYLD	c.1682T>A	NM_015247.2	NP_056062.1:p.(Leu561Ter)	NC_000016.9:g.50815320T>A	(Likely) pathogenic	1 lab	9cfb994f31
3:179481884 USP13 A>G	3	179481884	179481884	A	G	USP13	c.2187A>G	NM_003940.3	NP_003931.2:p.(Pro729=)	NC_000003.11:g.179481884A>G	(Likely) benign	1 lab	9cfbc2b8bb
4:100479360 TRMT10A C>T	4	100479360	100479360	C	T	TRMT10A	c.194G>A	NM_152292.4	NP_689505.1:p.(Arg65Gln)	NC_000004.11:g.100479360C>T	(Likely) benign	1 lab	9cfc66837b
3:121712813 ILDR1 C>T	3	121712813	121712813	C	T	ILDR1	c.783G>A	NM_001199799.1	NP_001186728.1:p.(Leu261=)	NC_000003.11:g.121712813C>T	(Likely) benign	1 lab	9cfd8abbcc
17:29556863 NF1 CTG>C	17	29556863	29556865	CTG	C	NF1	c.2862_2863del	NM_001042492.3	NP_001035957.1:p.(Asp955TyrfsTer19)	NC_000017.10:g.29556864_29556865del	(Likely) pathogenic	1 lab	9cffc3f666
19:1623962 TCF3 A>T	19	1623962	1623962	A	T	TCF3	c.537T>A	NM_003200.5	NP_003191.1:p.(Gly179=)	NC_000019.9:g.1623962A>T	(Likely) benign	1 lab	9cffcc666a
21:45714359 AIRE C>A	21	45714359	45714359	C	A	AIRE				NC_000021.8:g.45714359C>A	(Likely) benign	1 lab	f1b548044d
3:4715054 ITPR1 G>A	3	4715054	4715054	G	A	ITPR1	c.2439G>A	NM_001099952.2	NP_001093422.2:p.(Ser813=)	NC_000003.11:g.4715054G>A	(Likely) benign	1 lab	9d012f26d8
4:174219448 GALNT7 G>A	4	174219448	174219448	G	A	GALNT7	c.1148G>A	NM_017423.3	NP_059119.2:p.(Arg383Gln)	NC_000004.11:g.174219448G>A	VUS	1 lab	9d01747a49
X:141290978 MAGEC2 C>T	X	141290978	141290978	C	T	MAGEC2	c.796G>A	NM_016249.3	NP_057333.1:p.(Val266Ile)	NC_000023.10:g.141290978C>T	(Likely) benign	1 lab	9d01e4f180
11:67225049 CABP4 G>C	11	67225049	67225049	G	C	CABP4	c.232G>C	NM_001300895.1	NP_001287824.1:p.(Gly78Arg)	NC_000011.9:g.67225049G>C	VUS	1 lab	9d02c1b761
1:228494237 OBSCN T>G	1	228494237	228494237	T	G	OBSCN	c.14695T>G	NM_001271223.2	NP_001258152.2:p.(Cys4899Gly)	NC_000001.10:g.228494237T>G	VUS	1 lab	9d02e30388
7:100683974 MUC17 A>G	7	100683974	100683974	A	G	MUC17	c.9277A>G	NM_001040105.1	NP_001035194.1:p.(Thr3093Ala)	NC_000007.13:g.100683974A>G	VUS	1 lab	9d03303e54
2:166859242 SCN1A C>A	2	166859242	166859242	C	A	SCN1A	c.4024G>T	NM_001165963.2	NP_001159435.1:p.(Gly1342Ter)	NC_000002.11:g.166859242C>A	(Likely) pathogenic	1 lab	9d0433e121
X:70321314 FOXO4 G>A	X	70321314	70321314	G	A	FOXO4	c.1234G>A	NM_005938.3	NP_005929.2:p.(Val412Ile)	NC_000023.10:g.70321314G>A	(Likely) benign	1 lab	9d060589a1
8:117868965 RAD21 G>GA	8	117868965	117868966	G	GA	RAD21	c.733_734insT	NM_006265.2	NP_006256.1:p.(Pro245LeufsTer6)	NC_000008.10:g.117868965_117868966insA	(Likely) pathogenic	1 lab	9d068e2e0a
15:42154439 SPTBN5 C>T	15	42154439	42154439	C	T	SPTBN5	c.7437G>A	NM_016642.4	NP_057726.4:p.(Leu2479=)	NC_000015.9:g.42154439C>T	(Likely) benign	1 lab	9d0796313f
1:57422481 C8B T>A	1	57422481	57422481	T	A	C8B	c.196A>T	NM_001278543.1	NP_001265472.1:p.(Ser66Cys)	NC_000001.10:g.57422481T>A	(Likely) benign	1 lab	9d0888ab12
14:50769630 L2HGDH C>T	14	50769630	50769630	C	T	L2HGDH	c.246G>A	NM_024884.2	NP_079160.1:p.(Glu82=)	NC_000014.8:g.50769630C>T	(Likely) benign	1 lab	9d08d3b6fb
3:184041663 EIF4G1 C>T	3	184041663	184041663	C	T	EIF4G1	c.2373C>T	NM_182917.4	NP_886553.3:p.(Thr791=)	NC_000003.11:g.184041663C>T	(Likely) benign	1 lab	9d0b5ebfeb
16:2130367 TSC2 G>C	16	2130367	2130367	G	C	TSC2	c.3599G>C	NM_000548.3	NP_000539.2:p.(Arg1200Pro)	NC_000016.9:g.2130367G>C	(Likely) pathogenic	1 lab	9d0d06f452
X:6995306 PUDP G>T	X	6995306	6995306	G	T	PUDP	c.534C>A	NM_001135565.1	NP_001129037.1:p.(Phe178Leu)	NC_000023.10:g.6995306G>T	VUS	1 lab	9d0e5809f7
16:1252112 CACNA1H C>T	16	1252112	1252112	C	T	CACNA1H	c.1662C>T	NM_021098.2	NP_066921.2:p.(Gly554=)	NC_000016.9:g.1252112C>T	(Likely) benign	1 lab	9d0eb04030
5:73128196 ARHGEF28 C>T	5	73128196	73128196	C	T	ARHGEF28	c.1058C>T	NM_001080479.2	NP_001073948.2:p.(Pro353Leu)	NC_000005.9:g.73128196C>T	(Likely) benign	1 lab	9d118642b4
19:7437728 ARHGEF18 A>C	19	7437728	7437728	A	C	ARHGEF18	c.46A>C	NM_001367823.1	NP_001354752.1:p.(Ser16Arg)	NC_000019.9:g.7437728A>C	VUS	1 lab	9d1362075a
13:114782808 RASA3 G>T	13	114782808	114782808	G	T	RASA3	c.1111C>A	NM_007368.4	NP_031394.2:p.(Arg371=)	NC_000013.10:g.114782808G>T	(Likely) benign	1 lab	9d14b2a79f
20:44520237 CTSA C>CCTGCTG	20	44520237	44520263	C	CCTGCTG	CTSA	c.51_56dup	NM_001127695.2	NP_001121167.1:p.(Leu18_Leu19dup)	NC_000020.10:g.44520258_44520263dup	VUS	1 lab	9d155c4356
1:2338313 PEX10 C>T	1	2338313	2338313	C	T	PEX10	c.682G>A	NM_153818.1	NP_722540.1:p.(Gly228Arg)	NC_000001.10:g.2338313C>T	(Likely) benign	1 lab	9d15972d0b
9:95027284 IARS1 C>G	9	95027284	95027284	C	G	IARS1	c.1627G>C	NM_013417.3	NP_038203.2:p.(Glu543Gln)	NC_000009.11:g.95027284C>G	VUS	1 lab	9d15d6f02e
17:48650026 CACNA1G C>A	17	48650026	48650026	C	A	CACNA1G	c.858C>A	NM_018896.4	NP_061496.2:p.(Pro286=)	NC_000017.10:g.48650026C>A	(Likely) benign	1 lab	9d1611a1e1
6:152555903 SYNE1 C>T	6	152555903	152555903	C	T	SYNE1	c.20429G>A	NM_182961.3	NP_892006.3:p.(Trp6810Ter)	NC_000006.11:g.152555903C>T	(Likely) pathogenic	1 lab	9d16a4d7b9
19:21992109 ZNF43 G>A	19	21992109	21992109	G	A	ZNF43	c.712C>T	NM_001256648.1	NP_001243577.1:p.(Arg238Cys)	NC_000019.9:g.21992109G>A	VUS	1 lab	9d17eaa6cf
16:89351870 ANKRD11 C>T	16	89351870	89351870	C	T	ANKRD11	c.1080G>A	NM_001256182.1	NP_001243111.1:p.(Pro360=)	NC_000016.9:g.89351870C>T	(Likely) benign	1 lab	9d1bf2ecb9
11:73669449 DNAJB13 C>T	11	73669449	73669449	C	T	DNAJB13	c.156C>T	NM_153614.3	NP_705842.2:p.(Tyr52=)	NC_000011.9:g.73669449C>T	(Likely) benign	1 lab	9d1c0a4836
X:151303864 MAGEA10 C>A	X	151303864	151303864	C	A	MAGEA10	c.229G>T	NM_001011543.2	NP_001011543.2:p.(Asp77Tyr)	NC_000023.10:g.151303864C>A	(Likely) benign	1 lab	9d1c17e5a8
7:5567418 ACTB G>A	7	5567418	5567418	G	A	ACTB	c.1089C>T	NM_001101.3	NP_001092.1:p.(Asp363=)	NC_000007.13:g.5567418G>A	(Likely) benign	1 lab	9d1ceaf586
X:69458142 AWAT1 G>C	X	69458142	69458142	G	C	AWAT1	c.541G>C	NM_001013579.2	NP_001013597.1:p.(Gly181Arg)	NC_000023.10:g.69458142G>C	VUS	1 lab	9d1d526a3c
11:62911213 SLC22A24 C>T	11	62911213	62911213	C	T	SLC22A24	c.39G>A	NM_001136506.2	NP_001129978.2:p.(Met13Ile)	NC_000011.9:g.62911213C>T	(Likely) benign	1 lab	9d1f66e6a1
19:39001164 RYR1 G>C	19	39001164	39001164	G	C	RYR1	c.8959G>C	NM_000540.2	NP_000531.2:p.(Glu2987Gln)	NC_000019.9:g.39001164G>C	VUS	1 lab	9d1fb2c991
20:33539613 GSS G>A	20	33539613	33539613	G	A	GSS	c.43C>T	NM_001322495.1	NP_001309424.1:p.(Leu15=)	NC_000020.10:g.33539613G>A	(Likely) benign	1 lab	9d2237a62a
3:11067458 SLC6A1 G>C	3	11067458	11067458	G	C	SLC6A1	c.850-1G>C	NM_003042.3	NP_003033.3:p.?	NC_000003.11:g.11067458G>C	(Likely) pathogenic	1 lab	9d22899557
22:50664302 TUBGCP6 T>A	22	50664302	50664302	T	A	TUBGCP6	c.1904A>T	NM_020461.3	NP_065194.2:p.(Glu635Val)	NC_000022.10:g.50664302T>A	VUS	1 lab	9d2390620a
1:240371388 FMN2 C>T	1	240371388	240371388	C	T	FMN2	c.3288C>T	NM_001305424.1	NP_001292353.1:p.(Pro1096=)	NC_000001.10:g.240371388C>T	(Likely) benign	1 lab	9d23b573bb
2:240078400 HDAC4 G>A	2	240078400	240078400	G	A	HDAC4	c.681C>T	NM_006037.3	NP_006028.2:p.(His227=)	NC_000002.11:g.240078400G>A	(Likely) benign	1 lab	9d2428cef5
12:110017753 MVK T>C	12	110017753	110017753	T	C	MVK	c.371+2T>C	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110017753T>C	(Likely) pathogenic	1 lab	9d25ddc6a5
8:126071701 WASHC5 G>A	8	126071701	126071701	G	A	WASHC5	c.1605C>T	NM_014846.3	NP_055661.3:p.(Ile535=)	NC_000008.10:g.126071701G>A	(Likely) benign	1 lab	9d27db8804
3:46751073 TMIE T>TAAG	3	46751073	46751100	T	TAAG	TMIE	c.391_393dup	NM_147196.2	NP_671729.2:p.(Lys131dup)	NC_000003.11:g.46751098_46751100dup	(Likely) benign	1 lab	9d27dc803f
17:29422388 NF1 G>A	17	29422388	29422388	G	A	NF1	c.60+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422388G>A	(Likely) pathogenic	1 lab	9d2947478d
7:138546044 KIAA1549 G>C	7	138546044	138546044	G	C	KIAA1549	c.5088C>G	NM_001164665.1	NP_001158137.1:p.(Ala1696=)	NC_000007.13:g.138546044G>C	(Likely) benign	1 lab	9d2a7b3ee8
8:48887414 MCM4 G>C	8	48887414	48887414	G	C	MCM4	c.2257G>C	NM_005914.4	NP_005905.2:p.(Val753Leu)	NC_000008.10:g.48887414G>C	VUS	1 lab	9d2bbacf82
16:48249113 ABCC11 A>G	16	48249113	48249113	A	G	ABCC11	c.1094T>C	NM_033151.3	NP_149163.2:p.(Ile365Thr)	NC_000016.9:g.48249113A>G	VUS	1 lab	9d2bfed28d
13:113729327 MCF2L G>C	13	113729327	113729327	G	C	MCF2L	c.1126G>C	NM_024979.4	NP_079255.4:p.(Ala376Pro)	NC_000013.10:g.113729327G>C	VUS	1 lab	9d2f32f6de
1:65830313 DNAJC6 G>T	1	65830313	65830313	G	T	DNAJC6	c.194-5G>T	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830313G>T	(Likely) benign	1 lab	9d30864505
13:36124658 NBEA C>T	13	36124658	36124658	C	T	NBEA	c.6630C>T	NM_015678.4	NP_056493.3:p.(Ser2210=)	NC_000013.10:g.36124658C>T	(Likely) benign	1 lab	9d3279cd54
5:121413215 LOX T>A	5	121413215	121413215	T	A	LOX	c.466A>T	NM_002317.6	NP_002308.2:p.(Asn156Tyr)	NC_000005.9:g.121413215T>A	(Likely) benign	1 lab	9d32b62725
7:44281378 CAMK2B C>T	7	44281378	44281378	C	T	CAMK2B	c.824G>A	NM_001220.4	NP_001211.3:p.(Arg275His)	NC_000007.13:g.44281378C>T	VUS	1 lab	9d32f8b638
22:19960542 ARVCF G>C	22	19960542	19960542	G	C	ARVCF	c.2456C>G	NM_001670.2	NP_001661.1:p.(Ala819Gly)	NC_000022.10:g.19960542G>C	VUS	1 lab	9d33829195
12:112036916 ATXN2 G>T	12	112036916	112036916	G	T	ATXN2	c.403C>A	NM_002973.3	NP_002964.3:p.(Arg135Ser)	NC_000012.11:g.112036916G>T	VUS	1 lab	9d36b75f0a
1:243800926 AKT3 A>T	1	243800926	243800926	A	T	AKT3				NC_000001.10:g.243800926A>T	(Likely) pathogenic	1 lab	9d38e3a232
19:50203964 CPT1C G>C	19	50203964	50203964	G	C	CPT1C	c.305G>C	NM_001199752.2	NP_001186681.1:p.(Arg102Pro)	NC_000019.9:g.50203964G>C	(Likely) benign	1 lab	9d39966f7f
15:80189277 MTHFS C>T	15	80189277	80189277	C	T	MTHFS	c.54G>A	NM_006441.3	NP_006432.1:p.(Lys18=)	NC_000015.9:g.80189277C>T	(Likely) benign	1 lab	9d39eae6fe
14:51243721 NIN C>T	14	51243721	51243721	C	T	NIN	c.612G>A	NM_020921.3	NP_065972.3:p.(Arg204=)	NC_000014.8:g.51243721C>T	(Likely) benign	1 lab	9d3a1c7655
12:58021913 B4GALNT1 G>A	12	58021913	58021913	G	A	B4GALNT1	c.1135C>T	NM_001478.4	NP_001469.1:p.(Leu379=)	NC_000012.11:g.58021913G>A	(Likely) benign	1 lab	9d3afde639
11:63990657 FERMT3 G>A	11	63990657	63990657	G	A	FERMT3	c.1820G>A	NM_178443.2	NP_848537.1:p.(Arg607Gln)	NC_000011.9:g.63990657G>A	VUS	1 lab	9d3b683471
4:126408706 FAT4 T>C	4	126408706	126408706	T	C	FAT4	c.13023T>C	NM_024582.4	NP_078858.4:p.(Leu4341=)	NC_000004.11:g.126408706T>C	(Likely) benign	1 lab	9d3d01cc09
11:19209742 CSRP3 TC>T	11	19209742	19209744	TC	T	CSRP3	c.221del	NM_003476.5	NP_003467.1:p.(Gly74AspfsTer134)	NC_000011.9:g.19209744del	VUS	1 lab	9d3d5ad8a3
2:1647263 PXDN T>C	2	1647263	1647263	T	C	PXDN	c.3829A>G	NM_012293.2	NP_036425.1:p.(Asn1277Asp)	NC_000002.11:g.1647263T>C	VUS	1 lab	9d3e41f5ff
19:42752606 ERF G>A	19	42752606	42752606	G	A	ERF	c.*11C>T	NM_006494.3	NP_006485.2:p.?	NC_000019.9:g.42752606G>A	VUS	1 lab	9d3f3c7b36
X:111698405 RTL4 C>T	X	111698405	111698405	C	T	RTL4	c.449C>T	NM_001004308.2	NP_001004308.2:p.(Ala150Val)	NC_000023.10:g.111698405C>T	(Likely) benign	1 lab	9d3f3f8542
19:45656354 NKPD1 G>GTTCC	19	45656354	45656356	G	GTTCC	NKPD1	c.1340_1341insGGAA	NM_198478.3	NP_940880.3:p.(Tyr447Ter)	NC_000019.9:g.45656355_45656356insTCCT	VUS	1 lab	9d40147b32
22:20030953 TANGO2 C>T	22	20030953	20030953	C	T	TANGO2	c.255C>T	NM_001322141.1	NP_001309070.1:p.(Asn85=)	NC_000022.10:g.20030953C>T	(Likely) benign	1 lab	9d43d16d79
13:32911716 BRCA2 G>A	13	32911716	32911716	G	A	BRCA2	c.3224G>A	NM_000059.3	NP_000050.2:p.(Ser1075Asn)	NC_000013.10:g.32911716G>A	(Likely) benign	1 lab	9d48005707
X:32591747 DMD A>G	X	32591747	32591747	A	G	DMD	c.1343T>C	NM_004010.3	NP_004001.1:p.(Phe448Ser)	NC_000023.10:g.32591747A>G	VUS	1 lab	9d4871826b
5:137520248 KIF20A G>A	5	137520248	137520248	G	A	KIF20A	c.1566G>A	NM_005733.3	NP_005724.1:p.(Ser522=)	NC_000005.9:g.137520248G>A	(Likely) benign	1 lab	9d48ba10e8
16:56534783 BBS2 G>A	16	56534783	56534783	G	A	BBS2	c.1380C>T	NM_031885.3	NP_114091.3:p.(Phe460=)	NC_000016.9:g.56534783G>A	(Likely) benign	1 lab	9d4cc96beb
16:2113043 TSC2 C>T	16	2113043	2113043	C	T	TSC2	c.1432C>T	NM_000548.3	NP_000539.2:p.(Gln478Ter)	NC_000016.9:g.2113043C>T	(Likely) pathogenic	1 lab	9d4e3a1889
1:57351835 C8A C>A	1	57351835	57351835	C	A	C8A	c.1091C>A	NM_000562.2	NP_000553.1:p.(Ser364Tyr)	NC_000001.10:g.57351835C>A	(Likely) benign	1 lab	9d50e36327
X:73641817 SLC16A2 C>T	X	73641817	73641817	C	T	SLC16A2	c.345C>T	NM_006517.4	NP_006508.2:p.(Phe115=)	NC_000023.10:g.73641817C>T	(Likely) benign	1 lab	9d52f8901f
17:41203099 BRCA1 G>A	17	41203099	41203099	G	A	BRCA1	c.5313C>T	NM_007294.3	NP_009225.1:p.(Pro1771=)	NC_000017.10:g.41203099G>A	(Likely) benign	1 lab	9d5305a8a8
10:105833001 COL17A1 A>T	10	105833001	105833001	A	T	COL17A1	c.382T>A	NM_000494.4	NP_000485.3:p.(Ser128Thr)	NC_000010.10:g.105833001A>T	(Likely) benign	1 lab	9d534d616d
X:152835069 ATP2B3 A>G	X	152835069	152835069	A	G	ATP2B3	c.3351A>G	NM_021949.3	NP_068768.2:p.(Val1117=)	NC_000023.10:g.152835069A>G	(Likely) benign	1 lab	9d55e7bec5
X:151870160 MAGEA6 G>C	X	151870160	151870160	G	C	MAGEA6	c.850G>C	NM_175868.2	NP_787064.1:p.(Val284Leu)	NC_000023.10:g.151870160G>C	(Likely) benign	1 lab	9d5777344f
10:101610393 ABCC2 G>T	10	101610393	101610393	G	T	ABCC2	c.4348G>T	NM_000392.5	NP_000383.2:p.(Ala1450Ser)	NC_000010.10:g.101610393G>T	(Likely) benign	1 lab	9d586a1937
14:24617649 RNF31 A>AC	14	24617649	24617650	A	AC	RNF31	c.6dup	NM_001310332.1	NP_001297261.1:p.(Cys4MetfsTer29)	NC_000014.8:g.24617650dup	(Likely) pathogenic	1 lab	9d5d98624b
16:56534782 BBS2 C>T	16	56534782	56534782	C	T	BBS2	c.1381G>A	NM_031885.3	NP_114091.3:p.(Val461Met)	NC_000016.9:g.56534782C>T	VUS	1 lab	9d62c62094
3:186961336 MASP1 T>C	3	186961336	186961336	T	C	MASP1	c.1164A>G	NM_001879.5	NP_001870.3:p.(Thr388=)	NC_000003.11:g.186961336T>C	(Likely) benign	1 lab	9d63792a6b
16:2156315 PKD1 G>A	16	2156315	2156315	G	A	PKD1	c.7490-10C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156315G>A	(Likely) benign	1 lab	9d64a9d038
6:152655279 SYNE1 C>T	6	152655279	152655279	C	T	SYNE1	c.12658G>A	NM_182961.3	NP_892006.3:p.(Asp4220Asn)	NC_000006.11:g.152655279C>T	VUS	1 lab	9d65b6d556
7:142460778 PRSS1 T>C	7	142460778	142460778	T	C	PRSS1	c.651T>C	NM_002769.4	NP_002760.1:p.(Gly217=)	NC_000007.13:g.142460778T>C	(Likely) benign	1 lab	9d65f4dab5
4:9784447 DRD5 C>CCGCAGAGCACG	4	9784447	9784466	C	CCGCAGAGCACG	DRD5	c.803_813dup	NM_000798.4	NP_000789.1:p.(Cys272ThrfsTer33)	NC_000004.11:g.9784456_9784466dup	VUS	1 lab	9d66f69ac2
X:57619166 ZXDB C>T	X	57619166	57619166	C	T	ZXDB	c.685C>T	NM_007157.3	NP_009088.1:p.(Pro229Ser)	NC_000023.10:g.57619166C>T	(Likely) benign	1 lab	9d680803e5
4:89442924 PIGY G>C	4	89442924	89442924	G	C	PIGY	c.17C>G	NM_001042616.2	NP_001036081.1:p.(Pro6Arg)	NC_000004.11:g.89442924G>C	VUS	1 lab	9d691a3a48
17:73830744 UNC13D G>T	17	73830744	73830744	G	T	UNC13D	c.2046C>A	NM_199242.2	NP_954712.1:p.(Arg682=)	NC_000017.10:g.73830744G>T	(Likely) benign	1 lab	9d6a993241
12:80611410 OTOGL T>C	12	80611410	80611410	T	C	OTOGL	c.174T>C	NM_173591.3	NP_775862.3:p.(His58=)	NC_000012.11:g.80611410T>C	(Likely) benign	1 lab	9d6b3fe396
5:172197216 DUSP1 G>C	5	172197216	172197216	G	C	DUSP1	c.461C>G	NM_004417.4	NP_004408.1:p.(Pro154Arg)	NC_000005.9:g.172197216G>C	VUS	1 lab	9d6b46252d
2:69409663 ANTXR1 T>G	2	69409663	69409663	T	G	ANTXR1	c.1224T>G	NM_032208.2	NP_115584.1:p.(Ala408=)	NC_000002.11:g.69409663T>G	(Likely) benign	1 lab	9d6b9ed2cd
22:31013431 TCN2 G>A	22	31013431	31013431	G	A	TCN2	c.974G>A	NM_001184726.1	NP_001171655.1:p.(Gly325Glu)	NC_000022.10:g.31013431G>A	(Likely) benign	1 lab	9d6ed225fa
3:48506049 ATRIP G>C	3	48506049	48506049	G	C	ATRIP	c.2043G>C	NM_130384.3	NP_569055.1:p.(Gln681His)	NC_000003.11:g.48506049G>C	(Likely) benign	1 lab	9d6edbeecb
5:167933823 RARS1 C>G	5	167933823	167933823	C	G	RARS1	c.1333C>G	NM_002887.3	NP_002878.2:p.(Leu445Val)	NC_000005.9:g.167933823C>G	VUS	1 lab	9d71b7ffa1
17:33443923 RAD51D G>C	17	33443923	33443923	G	C	RAD51D	c.278C>G	NM_001142571.1	NP_001136043.1:p.(Ser93Trp)	NC_000017.10:g.33443923G>C	(Likely) benign	1 lab	9d72cbb2c2
11:55322099 OR4C15 C>G	11	55322099	55322099	C	G	OR4C15	c.155C>G	NM_001001920.2	NP_001001920.2:p.(Ala52Gly)	NC_000011.9:g.55322099C>G	(Likely) benign	1 lab	9d7384c551
8:6299559 MCPH1 C>A	8	6299559	6299559	C	A	MCPH1	c.581-29C>A	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6299559C>A	(Likely) benign	1 lab	9d739fe35f
16:88494769 ZNF469 C>G	16	88494769	88494769	C	G	ZNF469				NC_000016.9:g.88494769C>G	(Likely) benign	1 lab	9d74a4f8cb
2:26536732 ADGRF3 AG>A	2	26536732	26536733	AG	A	ADGRF3	c.967del	NM_001321971.2	NP_001308900.1:p.(Leu323TrpfsTer70)	NC_000002.11:g.26536733del	VUS	1 lab	9d75007360
11:6654118 DCHS1 G>A	11	6654118	6654118	G	A	DCHS1				NC_000011.9:g.6654118G>A	(Likely) benign	1 lab	9d7511c0bd
11:55406034 OR4P4 C>A	11	55406034	55406034	C	A	OR4P4	c.201C>A	NM_001004124.2	NP_001004124.1:p.(Ser67=)	NC_000011.9:g.55406034C>A	(Likely) benign	1 lab	9d77fcf002
19:40199925 LGALS14 C>T	19	40199925	40199925	C	T	LGALS14	c.479C>T	NM_203471.1	NP_982297.1:p.(Ser160Phe)	NC_000019.9:g.40199925C>T	(Likely) benign	1 lab	9d78ce852e
6:7189466 RREB1 C>T	6	7189466	7189466	C	T	RREB1	c.336C>T	NM_001003699.4	NP_001003699.1:p.(Leu112=)	NC_000006.11:g.7189466C>T	(Likely) benign	1 lab	9d78edc305
X:153227717 HCFC1 C>A	X	153227717	153227717	C	A	HCFC1	c.753G>T	NM_005334.2	NP_005325.2:p.(Ala251=)	NC_000023.10:g.153227717C>A	(Likely) benign	1 lab	9d79dda2d4
2:86332852 POLR1A G>A	2	86332852	86332852	G	A	POLR1A	c.48C>T	NM_015425.5	NP_056240.2:p.(Ser16=)	NC_000002.11:g.86332852G>A	(Likely) benign	1 lab	9d7a2fcfbe
17:28548936 SLC6A4 G>A	17	28548936	28548936	G	A	SLC6A4	c.41C>T	NM_001045.5	NP_001036.1:p.(Ala14Val)	NC_000017.10:g.28548936G>A	(Likely) benign	1 lab	9d7cd00a7e
X:49114811 FOXP3 C>A	X	49114811	49114811	C	A	FOXP3	c.152G>T	NM_014009.3	NP_054728.2:p.(Arg51Leu)	NC_000023.10:g.49114811C>A	VUS	1 lab	9d7fa69745
6:56338722 DST G>A	6	56338722	56338722	G	A	DST	c.15586C>T	NM_001144769.2	NP_001138241.1:p.(Pro5196Ser)	NC_000006.11:g.56338722G>A	VUS	1 lab	9d7fce8727
1:55199338 TTC4 AC>A	1	55199338	55199341	AC	A	TTC4	c.936del	NM_004623.5	NP_004614.3:p.(Ser313LeufsTer4)	NC_000001.10:g.55199341del	VUS	1 lab	9d804ea9b0
9:135781227 TSC1 T>TA	9	135781227	135781228	T	TA	TSC1	c.1737dup	NM_000368.4	NP_000359.1:p.(Ile580TyrfsTer8)	NC_000009.11:g.135781228dup	(Likely) pathogenic	1 lab	9d81c800e4
15:41687095 NDUFAF1 T>A	15	41687095	41687095	T	A	NDUFAF1	c.721A>T	NM_016013.3	NP_057097.2:p.(Met241Leu)	NC_000015.9:g.41687095T>A	(Likely) benign	1 lab	9d834daeb3
7:116422068 MET C>T	7	116422068	116422068	C	T	MET	c.3603C>T	NM_001127500.1	NP_001120972.1:p.(Gly1201=)	NC_000007.13:g.116422068C>T	(Likely) benign	1 lab	9d84ed611d
22:30070824 NF2 G>A	22	30070824	30070824	G	A	NF2	c.1341-1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30070824G>A	(Likely) pathogenic	1 lab	9d8562482b
19:49469657 FTL C>T	19	49469657	49469657	C	T	FTL	c.369C>T	NM_000146.3	NP_000137.2:p.(Asp123=)	NC_000019.9:g.49469657C>T	(Likely) benign	1 lab	9d85c1b150
X:152826219 ATP2B3 G>A	X	152826219	152826219	G	A	ATP2B3	c.2925G>A	NM_021949.3	NP_068768.2:p.(Thr975=)	NC_000023.10:g.152826219G>A	(Likely) benign	1 lab	9d8614e931
16:88893219 GALNS C>T	16	88893219	88893219	C	T	GALNS	c.1030G>A	NM_000512.4	NP_000503.1:p.(Asp344Asn)	NC_000016.9:g.88893219C>T	(Likely) pathogenic	1 lab	9d86d63a96
1:151373726 PSMB4 A>G	1	151373726	151373726	A	G	PSMB4	c.588A>G	NM_002796.3	NP_002787.2:p.(Arg196=)	NC_000001.10:g.151373726A>G	(Likely) benign	1 lab	9d8709eec0
10:103558981 MISSING T>A	10	103558981	103558981	T	A	MISSING				NC_000010.10:g.103558981T>A	(Likely) benign	1 lab	9d8779cced
3:12626461 RAF1 C>T	3	12626461	12626461	C	T	RAF1	c.1688G>A	NM_002880.3	NP_002871.1:p.(Arg563Gln)	NC_000003.11:g.12626461C>T	VUS	1 lab	9d87fa56a2
16:31474179 ARMC5 G>T	16	31474179	31474179	G	T	ARMC5	c.1311G>T	NM_024742.2	NP_079018.1:p.(Trp437Cys)	NC_000016.9:g.31474179G>T	VUS	1 lab	9d88548a74
16:2147722 PKD1 A>C	16	2147722	2147722	A	C	PKD1	c.10220+7T>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2147722A>C	(Likely) benign	1 lab	9d888e0954
X:105181454 NRK C>G	X	105181454	105181454	C	G	NRK	c.3679C>G	NM_198465.3	NP_940867.2:p.(Arg1227Gly)	NC_000023.10:g.105181454C>G	(Likely) benign	1 lab	9d88d06aff
4:15504091 CC2D2A C>G	4	15504091	15504091	C	G	CC2D2A	c.287C>G	NM_001080522.2	NP_001073991.2:p.(Ala96Gly)	NC_000004.11:g.15504091C>G	(Likely) benign	1 lab	9d8aedadf9
19:11311717 DOCK6 C>T	19	11311717	11311717	C	T	DOCK6	c.5700G>A	NM_020812.3	NP_065863.2:p.(Thr1900=)	NC_000019.9:g.11311717C>T	(Likely) benign	1 lab	9d8bef5b4d
1:5987696 NPHP4 T>C	1	5987696	5987696	T	C	NPHP4	c.1441+13A>G	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.5987696T>C	(Likely) benign	1 lab	f3a6a0c05c
X:102004384 GPRASP3 C>T	X	102004384	102004384	C	T	GPRASP3	c.461C>T	NM_001142524.2	NP_001135996.1:p.(Ala154Val)	NC_000023.10:g.102004384C>T	(Likely) benign	1 lab	9d8e164e0c
9:79933458 VPS13A G>A	9	79933458	79933458	G	A	VPS13A	c.5264G>A	NM_033305.2	NP_150648.2:p.(Gly1755Asp)	NC_000009.11:g.79933458G>A	(Likely) benign	1 lab	9d8e8cea36
19:50366969 PNKP T>C	19	50366969	50366969	T	C	PNKP	c.793A>G	NM_007254.3	NP_009185.2:p.(Met265Val)	NC_000019.9:g.50366969T>C	VUS	1 lab	9d8f318eb3
22:30070931 NF2 G>A	22	30070931	30070931	G	A	NF2	c.1446+1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30070931G>A	(Likely) pathogenic	1 lab	9d908ccea7
6:56481814 DST T>A	6	56481814	56481814	T	A	DST	c.6451A>T	NM_001723.5	NP_001714.1:p.(Ile2151Phe)	NC_000006.11:g.56481814T>A	VUS	1 lab	9d90d445bf
1:152277704 FLG C>G	1	152277704	152277704	C	G	FLG	c.9658G>C	NM_002016.1	NP_002007.1:p.(Asp3220His)	NC_000001.10:g.152277704C>G	(Likely) benign	1 lab	9d91dd3383
10:73326529 CDH23 G>A	10	73326529	73326529	G	A	CDH23	c.460G>A	NM_022124.5	NP_071407.4:p.(Val154Met)	NC_000010.10:g.73326529G>A	VUS	1 lab	9d937b8e07
7:138603169 KIAA1549 A>G	7	138603169	138603169	A	G	KIAA1549	c.1203T>C	NM_001164665.1	NP_001158137.1:p.(Gly401=)	NC_000007.13:g.138603169A>G	(Likely) benign	1 lab	9d9493a404
1:65830373 DNAJC6 A>C	1	65830373	65830373	A	C	DNAJC6	c.249A>C	NM_001256864.2	NP_001243793.1:p.(Val83=)	NC_000001.10:g.65830373A>C	(Likely) benign	1 lab	9d949d420c
9:125621155 RC3H2 A>G	9	125621155	125621155	A	G	RC3H2	c.2076T>C	NM_001100588.3	NP_001094058.1:p.(Ala692=)	NC_000009.11:g.125621155A>G	(Likely) benign	1 lab	9d955bd118
17:41251784 BRCA1 A>C	17	41251784	41251784	A	C	BRCA1	c.547+8T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251784A>C	(Likely) benign	1 lab	9d9575ddd0
11:31823265 PAX6 T>C	11	31823265	31823265	T	C	PAX6	c.243A>G	NM_001604.5	NP_001595.2:p.(Arg81=)	NC_000011.9:g.31823265T>C	(Likely) benign	1 lab	9d96038c4c
17:73654533 RECQL5 C>T	17	73654533	73654533	C	T	RECQL5	c.994G>A	NM_004259.6	NP_004250.4:p.(Ala332Thr)	NC_000017.10:g.73654533C>T	VUS	1 lab	9d967fe32b
21:45751749 CFAP410 C>A	21	45751749	45751749	C	A	CFAP410	c.522G>T	NM_001271441.1	NP_001258370.1:p.(Pro174=)	NC_000021.8:g.45751749C>A	(Likely) benign	1 lab	9d9a00c604
4:128859942 MFSD8 T>C	4	128859942	128859942	T	C	MFSD8	c.750A>G	NM_152778.2	NP_689991.1:p.(Glu250=)	NC_000004.11:g.128859942T>C	(Likely) benign	1 lab	9d9a45f924
6:102134197 GRIK2 C>A	6	102134197	102134197	C	A	GRIK2	c.920C>A	NM_001166247.1	NP_001159719.1:p.(Pro307His)	NC_000006.11:g.102134197C>A	VUS	1 lab	9d9a9b6557
17:42987946 GFAP C>T	17	42987946	42987946	C	T	GFAP	c.1208G>A	NM_001242376.1	NP_001229305.1:p.(Ser403Asn)	NC_000017.10:g.42987946C>T	(Likely) benign	1 lab	9d9b53b1a6
2:29456488 ALK G>A	2	29456488	29456488	G	A	ALK				NC_000002.11:g.29456488G>A	(Likely) benign	1 lab	9d9bbb80b8
8:87683176 CNGB3 T>A	8	87683176	87683176	T	A	CNGB3	c.489A>T	NM_019098.4	NP_061971.3:p.(Gln163His)	NC_000008.10:g.87683176T>A	VUS	1 lab	9d9bdab219
12:83359384 TMTC2 C>T	12	83359384	83359384	C	T	TMTC2	c.1730C>T	NM_152588.3	NP_689801.1:p.(Thr577Met)	NC_000012.11:g.83359384C>T	VUS	1 lab	9d9e488e24
7:6031639 PMS2 T>C	7	6031639	6031639	T	C	PMS2	c.644A>G	NM_001322015.1	NP_001308944.1:p.(Tyr215Cys)	NC_000007.13:g.6031639T>C	VUS	1 lab	9d9ea597e6
14:68234444 ZFYVE26 G>A	14	68234444	68234444	G	A	ZFYVE26	c.5767C>T	NM_015346.3	NP_056161.2:p.(Arg1923Trp)	NC_000014.8:g.68234444G>A	VUS	1 lab	9d9f00eaa7
20:47606077 ARFGEF2 C>A	20	47606077	47606077	C	A	ARFGEF2	c.2686-16C>A	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47606077C>A	(Likely) benign	1 lab	9d9f743f70
4:90743488 SNCA G>A	4	90743488	90743488	G	A	SNCA	c.215C>T	NM_000345.3	NP_000336.1:p.(Thr72Met)	NC_000004.11:g.90743488G>A	VUS	1 lab	9d9fab90d3
10:55582926 PCDH15 A>T	10	55582926	55582926	A	T	PCDH15	c.4581T>A	NM_001142763.1	NP_001136235.1:p.(Asp1527Glu)	NC_000010.10:g.55582926A>T	VUS	1 lab	9d9ff69466
1:147381177 GJA8 C>T	1	147381177	147381177	C	T	GJA8	c.1095C>T	NM_005267.4	NP_005258.2:p.(Ala365=)	NC_000001.10:g.147381177C>T	(Likely) benign	1 lab	9da015a106
8:145641996 SLC39A4 C>T	8	145641996	145641996	C	T	SLC39A4	c.178G>A	NM_130849.3	NP_570901.2:p.(Gly60Arg)	NC_000008.10:g.145641996C>T	VUS	1 lab	9da116392a
9:135778120 TSC1 G>A	9	135778120	135778120	G	A	TSC1	c.2263C>T	NM_000368.4	NP_000359.1:p.(Gln755Ter)	NC_000009.11:g.135778120G>A	(Likely) pathogenic	1 lab	9da1bec9e8
3:49759241 GMPPB C>G	3	49759241	49759241	C	G	GMPPB	c.1108G>C	NM_013334.3	NP_037466.2:p.(Val370Leu)	NC_000003.11:g.49759241C>G	VUS	1 lab	9da2714e55
17:18044129 MYO15A A>C	17	18044129	18044129	A	C	MYO15A	c.5389A>C	NM_016239.3	NP_057323.3:p.(Lys1797Gln)	NC_000017.10:g.18044129A>C	VUS	1 lab	9da363107e
7:117251608 CFTR A>G	7	117251608	117251608	A	G	CFTR	c.3140-27A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117251608A>G	(Likely) benign	1 lab	9da3e65a5b
20:21142611 KIZ A>G	20	21142611	21142611	A	G	KIZ	c.505A>G	NM_018474.5	NP_060944.3:p.(Ser169Gly)	NC_000020.10:g.21142611A>G	VUS	1 lab	9da59c39ce
3:100570787 ABI3BP T>TAAAA	3	100570787	100570801	T	TAAAA	ABI3BP	c.1160-7_1160-4dup	NM_015429.3	NP_056244.2:p.?	NC_000003.11:g.100570798_100570801dup	(Likely) benign	1 lab	9da724ccf1
2:55470727 MTIF2 T>C	2	55470727	55470727	T	C	MTIF2	c.1389A>G	NM_001005369.1	NP_001005369.1:p.(Ile463Met)	NC_000002.11:g.55470727T>C	(Likely) benign	1 lab	9da86cc1db
20:30231282 COX4I2 G>T	20	30231282	30231282	G	T	COX4I2	c.323G>T	NM_032609.2	NP_115998.2:p.(Cys108Phe)	NC_000020.10:g.30231282G>T	(Likely) benign	1 lab	9dac96fdad
11:6661189 DCHS1 A>G	11	6661189	6661189	A	G	DCHS1				NC_000011.9:g.6661189A>G	(Likely) benign	1 lab	9dacce6e4b
11:76910814 MYO7A C>G	11	76910814	76910814	C	G	MYO7A	c.4803C>G	NM_000260.3	NP_000251.3:p.(Leu1601=)	NC_000011.9:g.76910814C>G	(Likely) benign	1 lab	9dae6cc0e2
2:131976361 POTEE T>C	2	131976361	131976361	T	C	POTEE	c.386T>C	NM_001083538.1	NP_001077007.1:p.(Met129Thr)	NC_000002.11:g.131976361T>C	(Likely) benign	1 lab	9daebc1a6a
16:28838276 ATXN2L A>G	16	28838276	28838276	A	G	ATXN2L	c.710A>G	NM_007245.3	NP_009176.2:p.(Asn237Ser)	NC_000016.9:g.28838276A>G	(Likely) benign	1 lab	9db04f7e3d
10:73544756 CDH23 G>A	10	73544756	73544756	G	A	CDH23	c.5611G>A	NM_022124.5	NP_071407.4:p.(Ala1871Thr)	NC_000010.10:g.73544756G>A	VUS	1 lab	9db2cb10e8
14:105408828 AHNAK2 C>T	14	105408828	105408828	C	T	AHNAK2	c.12960G>A	NM_138420.3	NP_612429.2:p.(Ser4320=)	NC_000014.8:g.105408828C>T	(Likely) benign	1 lab	9db30b1f80
10:61874020 ANK3 C>T	10	61874020	61874020	C	T	ANK3	c.2911G>A	NM_020987.5	NP_066267.2:p.(Asp971Asn)	NC_000010.10:g.61874020C>T	VUS	1 lab	9db78fb1bc
15:90188637 KIF7 C>T	15	90188637	90188637	C	T	KIF7	c.1968G>A	NM_198525.2	NP_940927.2:p.(Gly656=)	NC_000015.9:g.90188637C>T	(Likely) benign	1 lab	9db854d749
16:88787082 PIEZO1 G>A	16	88787082	88787082	G	A	PIEZO1	c.5743C>T	NM_001142864.4	NP_001136336.2:p.(Arg1915Cys)	NC_000016.9:g.88787082G>A	(Likely) benign	1 lab	9db9363ae7
1:46660009 POMGNT1 A>G	1	46660009	46660009	A	G	POMGNT1	c.816T>C	NM_017739.3	NP_060209.3:p.(Val272=)	NC_000001.10:g.46660009A>G	(Likely) benign	1 lab	9dba351844
6:80223460 LCA5 TA>T	6	80223460	80223466	TA	T	LCA5	c.191-3del	NM_001122769.3	NP_001116241.1:p.?	NC_000006.11:g.80223466del	(Likely) benign	1 lab	9dbbd39677
12:103238123 PAH AC>A	12	103238123	103238125	AC	A	PAH	c.1055del	NM_000277.3	NP_000268.1:p.(Gly352ValfsTer48)	NC_000012.11:g.103238125del	(Likely) pathogenic	1 lab	9dbe68fe7f
13:37393920 RFXAP C>T	13	37393920	37393920	C	T	RFXAP	c.426C>T	NM_000538.3	NP_000529.1:p.(Thr142=)	NC_000013.10:g.37393920C>T	(Likely) benign	1 lab	9dc026e673
3:158378740 GFM1 C>A	3	158378740	158378740	C	A	GFM1	c.1356C>A	NM_001308164.1	NP_001295093.1:p.(Asp452Glu)	NC_000003.11:g.158378740C>A	(Likely) benign	1 lab	9dc1a00cc1
16:85945187 IRF8 G>A	16	85945187	85945187	G	A	IRF8	c.370G>A	NM_002163.2	NP_002154.1:p.(Val124Met)	NC_000016.9:g.85945187G>A	(Likely) benign	1 lab	9dc250a66e
2:179458066 TTN T>C	2	179458066	179458066	T	C	TTN	c.58869A>G	NM_001267550.1	NP_001254479.1:p.(Lys19623=)	NC_000002.11:g.179458066T>C	(Likely) benign	1 lab	9dc274dbd6
9:13109981 MPDZ G>A	9	13109981	13109981	G	A	MPDZ	c.5912C>T	NM_001330637.1	NP_001317566.1:p.(Thr1971Met)	NC_000009.11:g.13109981G>A	VUS	1 lab	9dc36dca25
17:6610457 SLC13A5 C>T	17	6610457	6610457	C	T	SLC13A5	c.121G>A	NM_177550.4	NP_808218.1:p.(Val41Ile)	NC_000017.10:g.6610457C>T	(Likely) benign	1 lab	9dc3d5f56e
11:121000760 TECTA T>C	11	121000760	121000760	T	C	TECTA	c.2781T>C	NM_005422.2	NP_005413.2:p.(His927=)	NC_000011.9:g.121000760T>C	(Likely) benign	1 lab	9dc3dcdc1a
16:2110714 TSC2 T>C	16	2110714	2110714	T	C	TSC2	c.1019T>C	NM_000548.3	NP_000539.2:p.(Leu340Pro)	NC_000016.9:g.2110714T>C	(Likely) pathogenic	1 lab	9dc4bcabd0
5:1264673 TERT C>T	5	1264673	1264673	C	T	TERT	c.2689G>A	NM_198253.2	NP_937983.2:p.(Val897Met)	NC_000005.9:g.1264673C>T	VUS	1 lab	9dc57f0392
15:45391961 DUOX2 A>G	15	45391961	45391961	A	G	DUOX2	c.3314T>C	NM_014080.4	NP_054799.4:p.(Leu1105Pro)	NC_000015.9:g.45391961A>G	VUS	1 lab	9dc72ffccf
8:22049670 BMP1 G>A	8	22049670	22049670	G	A	BMP1	c.1180+6G>A	NM_006129.4	NP_006120.1:p.?	NC_000008.10:g.22049670G>A	(Likely) benign	1 lab	9dc89a3bfd
8:126069855 WASHC5 G>A	8	126069855	126069855	G	A	WASHC5	c.1818C>T	NM_014846.3	NP_055661.3:p.(Pro606=)	NC_000008.10:g.126069855G>A	(Likely) benign	1 lab	9dcb9ff714
19:17937659 JAK3 C>T	19	17937659	17937659	C	T	JAK3	c.3268G>A	NM_000215.3	NP_000206.2:p.(Ala1090Thr)	NC_000019.9:g.17937659C>T	(Likely) benign	1 lab	9dcc48cdd1
X:16887684 RBBP7 T>G	X	16887684	16887684	T	G	RBBP7	c.81A>C	NM_001198719.1	NP_001185648.1:p.(Leu27=)	NC_000023.10:g.16887684T>G	(Likely) benign	1 lab	9dce57dd23
5:176671250 NSD1 T>TA	5	176671250	176671251	T	TA	NSD1	c.4358dup	NM_022455.4	NP_071900.2:p.(Tyr1453Ter)	NC_000005.9:g.176671251dup	(Likely) pathogenic	1 lab	9dced3b561
14:88452866 GALC C>A	14	88452866	88452866	C	A	GALC	c.409G>T	NM_000153.3	NP_000144.2:p.(Ala137Ser)	NC_000014.8:g.88452866C>A	VUS	1 lab	9dceda2e18
18:72234625 CNDP1 C>T	18	72234625	72234625	C	T	CNDP1	c.713C>T	NM_032649.5	NP_116038.4:p.(Ala238Val)	NC_000018.9:g.72234625C>T	(Likely) benign	1 lab	9dd09e34d4
9:117170248 WHRN G>A	9	117170248	117170248	G	A	WHRN	c.1677C>T	NM_015404.3	NP_056219.3:p.(Asn559=)	NC_000009.11:g.117170248G>A	(Likely) benign	1 lab	9dd27292d2
5:68728852 MARVELD2 G>A	5	68728852	68728852	G	A	MARVELD2	c.1435G>A	NM_001038603.2	NP_001033692.2:p.(Val479Ile)	NC_000005.9:g.68728852G>A	VUS	1 lab	9dd2773e8d
3:135871122 MSL2 AAAGCCCATTAT>A	3	135871122	135871136	AAAGCCCATTAT	A	MSL2	c.590_600del	NM_018133.4	NP_060603.2:p.(Tyr197PhefsTer4)	NC_000003.11:g.135871126_135871136del	VUS	1 lab	9dd339165b
X:71792555 HDAC8 G>A	X	71792555	71792555	G	A	HDAC8	c.57C>T	NM_001166419.1	NP_001159891.1:p.(Ile19=)	NC_000023.10:g.71792555G>A	(Likely) benign	1 lab	9dd39dada2
X:41555485 GPR34 A>G	X	41555485	41555485	A	G	GPR34	c.599A>G	NM_001097579.2	NP_001091048.1:p.(Asn200Ser)	NC_000023.10:g.41555485A>G	VUS	1 lab	9dd8d5cf9e
16:2135334 TSC2 G>A	16	2135334	2135334	G	A	TSC2	c.4662+11G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135334G>A	(Likely) benign	1 lab	9dd9d5e03b
2:220337670 SPEG G>A	2	220337670	220337670	G	A	SPEG	c.3999G>A	NM_005876.4	NP_005867.3:p.(Thr1333=)	NC_000002.11:g.220337670G>A	(Likely) benign	1 lab	9dda41a1e7
13:49030386 RB1 C>T	13	49030386	49030386	C	T	RB1	c.1861C>T	NM_000321.2	NP_000312.2:p.(Arg621Cys)	NC_000013.10:g.49030386C>T	(Likely) benign	1 lab	9dda6ec2dd
20:44523667 CTSA A>AC	20	44523667	44523674	A	AC	CTSA	c.990dup	NM_001127695.2	NP_001121167.1:p.(Cys331LeufsTer56)	NC_000020.10:g.44523674dup	VUS	1 lab	9ddca3e598
17:29653035 NF1 ATATC>A	17	29653035	29653042	ATATC	A	NF1	c.5037_5040del	NM_001042492.3	NP_001035957.1:p.(Tyr1680ThrfsTer17)	NC_000017.10:g.29653039_29653042del	(Likely) pathogenic	1 lab	9ddd64ff20
20:10624465 JAG1 C>A	20	10624465	10624465	C	A	JAG1	c.2419G>T	NM_000214.3	NP_000205.1:p.(Glu807Ter)	NC_000020.10:g.10624465C>A	(Likely) pathogenic	1 lab	9ddf504643
12:133248834 POLE T>C	12	133248834	133248834	T	C	POLE	c.1761A>G	NM_006231.3	NP_006222.2:p.(Lys587=)	NC_000012.11:g.133248834T>C	VUS	1 lab	9ddf87f9a1
17:72301409 DNAI2 C>T	17	72301409	72301409	C	T	DNAI2	c.1039C>T	NM_023036.5	NP_075462.3:p.(Arg347Cys)	NC_000017.10:g.72301409C>T	VUS	1 lab	9ddfa1e0fe
12:1902930 CACNA2D4 G>T	12	1902930	1902930	G	T	CACNA2D4	c.3310-5C>A	NM_172364.4	NP_758952.4:p.?	NC_000012.11:g.1902930G>T	(Likely) benign	1 lab	9de18bc33b
5:176638258 NSD1 C>CTT	5	176638258	176638260	C	CTT	NSD1	c.2859_2860insTT	NM_022455.4	NP_071900.2:p.(Lys954LeufsTer87)	NC_000005.9:g.176638259_176638260insTT	(Likely) pathogenic	1 lab	9de239bb7d
2:29541299 ALK C>T	2	29541299	29541299	C	T	ALK				NC_000002.11:g.29541299C>T	(Likely) benign	1 lab	9de3614ae6
5:73178324 ARHGEF28 A>C	5	73178324	73178324	A	C	ARHGEF28	c.2842A>C	NM_001080479.2	NP_001073948.2:p.(Lys948Gln)	NC_000005.9:g.73178324A>C	VUS	1 lab	9de3de64fc
16:16313722 ABCC6 G>C	16	16313722	16313722	G	C	ABCC6	c.302C>G	NM_001171.5	NP_001162.4:p.(Ala101Gly)	NC_000016.9:g.16313722G>C	(Likely) benign	1 lab	9de531c491
X:31191676 DMD G>A	X	31191676	31191676	G	A	DMD	c.9939C>T	NM_004010.3	NP_004001.1:p.(Arg3313=)	NC_000023.10:g.31191676G>A	(Likely) benign	1 lab	9de58956b4
9:14851512 FREM1 C>G	9	14851512	14851512	C	G	FREM1	c.922G>C	NM_144966.5	NP_659403.4:p.(Asp308His)	NC_000009.11:g.14851512C>G	VUS	1 lab	9de610169b
6:75797410 COL12A1 G>A	6	75797410	75797410	G	A	COL12A1	c.9064C>T	NM_004370.5	NP_004361.3:p.(Pro3022Ser)	NC_000006.11:g.75797410G>A	VUS	1 lab	9de62c7848
19:56614381 ZNF787 G>A	19	56614381	56614381	G	A	ZNF787	c.206C>T	NM_001351682.1	NP_001338611.1:p.(Thr69Ile)	NC_000019.9:g.56614381G>A	VUS	1 lab	9de69ed2f5
X:46332193 KRABD4 C>G	X	46332193	46332193	C	G	KRABD4	c.247C>G	NM_017776.2	NP_060246.2:p.(Gln83Glu)	NC_000023.10:g.46332193C>G	(Likely) benign	1 lab	9de838e07a
10:123734670 NSMCE4A T>C	10	123734670	123734670	T	C	NSMCE4A	c.11A>G	NM_001167865.1	NP_001161337.1:p.(Asp4Gly)	NC_000010.10:g.123734670T>C	(Likely) benign	1 lab	9de9b3a7e6
12:32974314 PKP2 C>A	12	32974314	32974314	C	A	PKP2	c.2121G>T	NM_004572.3	NP_004563.2:p.(Gln707His)	NC_000012.11:g.32974314C>A	VUS	1 lab	9dea6bec9b
9:71869212 TJP2 G>A	9	71869212	71869212	G	A	TJP2	c.3495G>A	NM_004817.4	NP_004808.2:p.(Glu1165=)	NC_000009.11:g.71869212G>A	(Likely) benign	1 lab	9deaec8144
1:152284269 FLG T>C	1	152284269	152284269	T	C	FLG	c.3093A>G	NM_002016.1	NP_002007.1:p.(Glu1031=)	NC_000001.10:g.152284269T>C	(Likely) benign	1 lab	9deb92e37b
1:1423256 ATAD3B A>G	1	1423256	1423256	A	G	ATAD3B	c.1090A>G	NM_001317238.1	NP_001304167.1:p.(Met364Val)	NC_000001.10:g.1423256A>G	(Likely) benign	1 lab	9deb979001
12:88512335 CEP290 C>T	12	88512335	88512335	C	T	CEP290	c.1636G>A	NM_025114.3	NP_079390.3:p.(Glu546Lys)	NC_000012.11:g.88512335C>T	VUS	1 lab	9deb9d908e
16:81968078 PLCG2 C>T	16	81968078	81968078	C	T	PLCG2	c.2784C>T	NM_002661.3	NP_002652.2:p.(Ile928=)	NC_000016.9:g.81968078C>T	(Likely) benign	1 lab	9decaf95c4
3:3188176 TRNT1 C>T	3	3188176	3188176	C	T	TRNT1	c.671C>T	NM_182916.3	NP_886552.3:p.(Ala224Val)	NC_000003.11:g.3188176C>T	VUS	1 lab	9ded11f351
X:100667945 HNRNPH2 C>T	X	100667945	100667945	C	T	HNRNPH2	c.969C>T	NM_001032393.2	NP_001027565.1:p.(Pro323=)	NC_000023.10:g.100667945C>T	(Likely) benign	1 lab	9ded7eaff0
1:228511247 OBSCN C>T	1	228511247	228511247	C	T	OBSCN	c.18463C>T	NM_001271223.2	NP_001258152.2:p.(Arg6155Cys)	NC_000001.10:g.228511247C>T	VUS	1 lab	9dee04db16
X:80047435 BRWD3 T>C	X	80047435	80047435	T	C	BRWD3	c.348A>G	NM_153252.4	NP_694984.4:p.(Leu116=)	NC_000023.10:g.80047435T>C	(Likely) benign	1 lab	9defcdf676
6:149730787 TAB2 G>A	6	149730787	149730787	G	A	TAB2	c.2014G>A	NM_015093.5	NP_055908.1:p.(Ala672Thr)	NC_000006.11:g.149730787G>A	VUS	1 lab	9df055be62
4:79186228 FRAS1 C>G	4	79186228	79186228	C	G	FRAS1	c.653C>G	NM_025074.7	NP_079350.5:p.(Ala218Gly)	NC_000004.11:g.79186228C>G	VUS	1 lab	9df14dee69
9:123169373 CDK5RAP2 GC>G	9	123169373	123169379	GC	G	CDK5RAP2	c.4879del	NM_018249.6	NP_060719.4:p.(Ala1627GlnfsTer50)	NC_000009.11:g.123169379del	(Likely) pathogenic	1 lab	9df1d315b9
18:43490479 EPG5 T>A	18	43490479	43490479	T	A	EPG5	c.4205+7A>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43490479T>A	(Likely) benign	1 lab	9df2cc17e7
X:100667366 HNRNPH2 C>A	X	100667366	100667366	C	A	HNRNPH2	c.390C>A	NM_001032393.2	NP_001027565.1:p.(Phe130Leu)	NC_000023.10:g.100667366C>A	VUS	1 lab	9df303e271
5:32058012 PDZD2 C>T	5	32058012	32058012	C	T	PDZD2	c.2003C>T	NM_178140.3	NP_835260.2:p.(Thr668Met)	NC_000005.9:g.32058012C>T	VUS	1 lab	9df3abfae5
11:62290544 AHNAK T>C	11	62290544	62290544	T	C	AHNAK	c.11345A>G	NM_001620.2	NP_001611.1:p.(Lys3782Arg)	NC_000011.9:g.62290544T>C	(Likely) benign	1 lab	9df49a99f8
3:4733025 ITPR1 C>T	3	4733025	4733025	C	T	ITPR1	c.3981C>T	NM_001168272.1	NP_001161744.1:p.(Ala1327=)	NC_000003.11:g.4733025C>T	(Likely) benign	1 lab	9df5d8be9f
1:197070532 ASPM T>C	1	197070532	197070532	T	C	ASPM	c.7849A>G	NM_018136.4	NP_060606.3:p.(Ile2617Val)	NC_000001.10:g.197070532T>C	(Likely) benign	1 lab	9df9530381
1:57347199 C8A T>C	1	57347199	57347199	T	C	C8A	c.546T>C	NM_000562.2	NP_000553.1:p.(Asn182=)	NC_000001.10:g.57347199T>C	(Likely) benign	1 lab	9df9b06f53
1:183109642 LAMC1 C>T	1	183109642	183109642	C	T	LAMC1	c.4573+4C>T	NM_002293.3	NP_002284.3:p.?	NC_000001.10:g.183109642C>T	(Likely) benign	1 lab	9dfae652d3
7:143884918 ARHGEF35 C>G	7	143884918	143884918	C	G	ARHGEF35	c.559G>C	NM_001003702.2	NP_001003702.2:p.(Glu187Gln)	NC_000007.13:g.143884918C>G	VUS	1 lab	9dfb8dd75e
5:176710885 NSD1 G>T	5	176710885	176710885	G	T	NSD1	c.6107G>T	NM_022455.4	NP_071900.2:p.(Gly2036Val)	NC_000005.9:g.176710885G>T	(Likely) pathogenic	1 lab	9dfbb08997
12:105501602 WASHC4 G>C	12	105501602	105501602	G	C	WASHC4	c.24G>C	NM_001293640.1	NP_001280569.1:p.(Pro8=)	NC_000012.11:g.105501602G>C	(Likely) benign	1 lab	9dfcf001ec
8:13259103 DLC1 G>A	8	13259103	13259103	G	A	DLC1	c.1049C>T	NM_182643.2	NP_872584.2:p.(Ala350Val)	NC_000008.10:g.13259103G>A	(Likely) benign	1 lab	9dfe595b57
11:36597186 RAG1 C>G	11	36597186	36597186	C	G	RAG1	c.2332C>G	NM_000448.2	NP_000439.1:p.(Arg778Gly)	NC_000011.9:g.36597186C>G	(Likely) pathogenic	1 lab	9dfe99c34b
X:152036154 NSDHL C>T	X	152036154	152036154	C	T	NSDHL	c.726C>T	NM_015922.3	NP_057006.1:p.(Asn242=)	NC_000023.10:g.152036154C>T	(Likely) benign	1 lab	9e005e31d7
14:68196006 RDH12 C>A	14	68196006	68196006	C	A	RDH12	c.757C>A	NM_152443.2	NP_689656.2:p.(Pro253Thr)	NC_000014.8:g.68196006C>A	VUS	1 lab	9e013158c8
6:42236379 TRERF1 C>T	6	42236379	42236379	C	T	TRERF1	c.950G>A	NM_033502.3	NP_277037.1:p.(Arg317Gln)	NC_000006.11:g.42236379C>T	(Likely) benign	1 lab	9e0234232c
1:47133834 ATPAF1 C>T	1	47133834	47133834	C	T	ATPAF1	c.230G>A	NM_022745.4	NP_073582.3:p.(Gly77Asp)	NC_000001.10:g.47133834C>T	VUS	1 lab	9e032d4686
X:154221351 F8 G>T	X	154221351	154221351	G	T	F8	c.461C>A	NM_000132.3	NP_000123.1:p.(Thr154Lys)	NC_000023.10:g.154221351G>T	VUS	1 lab	9e03a7d2da
1:874415 SAMD11 C>T	1	874415	874415	C	T	SAMD11	c.431-5C>T	NM_152486.3	NP_689699.2:p.?	NC_000001.10:g.874415C>T	(Likely) benign	1 lab	9e056f86cb
8:27327399 CHRNA2 G>A	8	27327399	27327399	G	A	CHRNA2	c.173C>T	NM_000742.3	NP_000733.2:p.(Thr58Ile)	NC_000008.10:g.27327399G>A	(Likely) benign	1 lab	9e06d67326
3:25792705 NGLY1 T>A	3	25792705	25792705	T	A	NGLY1	c.542A>T	NM_001145293.1	NP_001138765.1:p.(His181Leu)	NC_000003.11:g.25792705T>A	(Likely) benign	1 lab	9e0985ec34
16:57786463 KATNB1 G>A	16	57786463	57786463	G	A	KATNB1	c.654G>A	NM_005886.2	NP_005877.2:p.(Leu218=)	NC_000016.9:g.57786463G>A	(Likely) benign	1 lab	9e0aeaa534
16:984017 LMF1 C>G	16	984017	984017	C	G	LMF1	c.89G>C	NM_001352018.1	NP_001338947.1:p.(Arg30Pro)	NC_000016.9:g.984017C>G	(Likely) benign	1 lab	9e0d1a683f
14:50100242 DNAAF2 C>G	14	50100242	50100242	C	G	DNAAF2	c.1626G>C	NM_018139.2	NP_060609.2:p.(Arg542=)	NC_000014.8:g.50100242C>G	(Likely) benign	1 lab	9e0e3c5f94
2:31805761 SRD5A2 C>T	2	31805761	31805761	C	T	SRD5A2	c.210G>A	NM_000348.3	NP_000339.2:p.(Arg70=)	NC_000002.11:g.31805761C>T	(Likely) benign	1 lab	9e10f4b6e9
1:205887994 SLC26A9 C>T	1	205887994	205887994	C	T	SLC26A9	c.2230G>A	NM_052934.4	NP_443166.1:p.(Val744Met)	NC_000001.10:g.205887994C>T	(Likely) benign	1 lab	9e11dd99c2
5:13820560 DNAH5 T>C	5	13820560	13820560	T	C	DNAH5	c.6736A>G	NM_001369.2	NP_001360.1:p.(Ile2246Val)	NC_000005.9:g.13820560T>C	VUS	1 lab	9e12075347
X:53285205 IQSEC2 G>A	X	53285205	53285205	G	A	IQSEC2	c.776C>T	NM_001111125.2	NP_001104595.1:p.(Ala259Val)	NC_000023.10:g.53285205G>A	(Likely) benign	1 lab	9e134e7a6a
9:6533092 GLDC C>G	9	6533092	6533092	C	G	GLDC	c.2988G>C	NM_000170.2	NP_000161.2:p.(Gln996His)	NC_000009.11:g.6533092C>G	VUS	1 lab	9e13bf4c3a
X:135328456 MAP7D3 C>T	X	135328456	135328456	C	T	MAP7D3	c.115G>A	NM_001173517.1	NP_001166988.1:p.(Val39Met)	NC_000023.10:g.135328456C>T	(Likely) benign	1 lab	9e13e9b25f
X:71358803 NHSL2 G>A	X	71358803	71358803	G	A	NHSL2	c.1405G>A	NM_001013627.2	NP_001013649.2:p.(Glu469Lys)	NC_000023.10:g.71358803G>A	VUS	1 lab	9e14ea0e89
7:5417033 TNRC18 G>A	7	5417033	5417033	G	A	TNRC18	c.2430C>T	NM_001080495.2	NP_001073964.2:p.(Asn810=)	NC_000007.13:g.5417033G>A	(Likely) benign	1 lab	9e16264fa7
21:27347425 APP G>A	21	27347425	27347425	G	A	APP	c.1416C>T	NM_000484.3	NP_000475.1:p.(Ala472=)	NC_000021.8:g.27347425G>A	(Likely) benign	1 lab	9e16333449
17:648462 GEMIN4 T>G	17	648462	648462	T	G	GEMIN4	c.2821A>C	NM_015721.2	NP_056536.2:p.(Lys941Gln)	NC_000017.10:g.648462T>G	(Likely) benign	1 lab	9e19c4e1a4
16:2103398 TSC2 C>T	16	2103398	2103398	C	T	TSC2	c.281C>T	NM_001114382.2	NP_001107854.1:p.(Pro94Leu)	NC_000016.9:g.2103398C>T	VUS	1 lab	9e1bd27dd8
17:29562981 NF1 C>T	17	29562981	29562981	C	T	NF1	c.3916C>T	NM_000267.3	NP_000258.1:p.(Arg1306Ter)	NC_000017.10:g.29562981C>T	(Likely) pathogenic	1 lab	9e1be807d1
17:29654566 NF1 T>C	17	29654566	29654566	T	C	NF1	c.5255T>C	NM_000267.3	NP_000258.1:p.(Leu1752Pro)	NC_000017.10:g.29654566T>C	(Likely) pathogenic	1 lab	9e1caed1a3
1:228556551 OBSCN C>T	1	228556551	228556551	C	T	OBSCN	c.22767C>T	NM_001271223.2	NP_001258152.2:p.(Pro7589=)	NC_000001.10:g.228556551C>T	(Likely) benign	1 lab	9e1da25575
3:4452612 SUMF1 G>A	3	4452612	4452612	G	A	SUMF1	c.891C>T	NM_182760.3	NP_877437.2:p.(Asn297=)	NC_000003.11:g.4452612G>A	(Likely) benign	1 lab	9e1db70ab3
20:61040946 GATA5 C>G	20	61040946	61040946	C	G	GATA5	c.857G>C	NM_080473.4	NP_536721.1:p.(Ser286Thr)	NC_000020.10:g.61040946C>G	VUS	1 lab	9e1e118d39
X:66943588 AR G>A	X	66943588	66943588	G	A	AR	c.2668G>A	NM_000044.4	NP_000035.2:p.(Val890Met)	NC_000023.10:g.66943588G>A	(Likely) pathogenic	1 lab	9e1e3c7e11
X:150349791 GPR50 T>C	X	150349791	150349791	T	C	GPR50	c.1736T>C	NM_004224.3	NP_004215.2:p.(Leu579Pro)	NC_000023.10:g.150349791T>C	(Likely) benign	1 lab	9e1e95732d
16:50756621 NOD2 G>A	16	50756621	50756621	G	A	NOD2	c.2798+5G>A	NM_022162.1	NP_071445.1:p.?	NC_000016.9:g.50756621G>A	VUS	1 lab	9e2099f031
1:216219814 USH2A C>T	1	216219814	216219814	C	T	USH2A	c.6284G>A	NM_206933.2	NP_996816.2:p.(Arg2095Lys)	NC_000001.10:g.216219814C>T	(Likely) benign	1 lab	9e20cd5167
5:176684158 NSD1 G>A	5	176684158	176684158	G	A	NSD1	c.4966+6G>A	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176684158G>A	(Likely) benign	1 lab	9e25138a99
9:131394453 SPTAN1 C>T	9	131394453	131394453	C	T	SPTAN1	c.6873C>T	NM_001363759.1	NP_001350688.1:p.(Ile2291=)	NC_000009.11:g.131394453C>T	(Likely) benign	1 lab	9e25c3a320
9:71869275 TJP2 G>T	9	71869275	71869275	G	T	TJP2	c.3558G>T	NM_004817.4	NP_004808.2:p.(Arg1186=)	NC_000009.11:g.71869275G>T	(Likely) benign	1 lab	9e266f5054
X:117892072 IL13RA1 A>G	X	117892072	117892072	A	G	IL13RA1	c.543A>G	NM_001560.2	NP_001551.1:p.(Gln181=)	NC_000023.10:g.117892072A>G	(Likely) benign	1 lab	9e26f3a767
2:27465569 CAD C>T	2	27465569	27465569	C	T	CAD	c.6304C>T	NM_004341.4	NP_004332.2:p.(Arg2102Cys)	NC_000002.11:g.27465569C>T	VUS	1 lab	9e27778de1
14:64898337 MTHFD1 GAA>G	14	64898337	64898339	GAA	G	MTHFD1	c.1400_1401del	NM_005956.4	NP_005947.3:p.(Glu467AlafsTer10)	NC_000014.8:g.64898338_64898339del	(Likely) pathogenic	1 lab	9e28f9467b
1:214818617 CENPF A>C	1	214818617	214818617	A	C	CENPF	c.5704A>C	NM_016343.3	NP_057427.3:p.(Asn1902His)	NC_000001.10:g.214818617A>C	VUS	1 lab	9e29d105d7
X:50119782 DGKK G>A	X	50119782	50119782	G	A	DGKK	c.3247C>T	NM_001013742.3	NP_001013764.1:p.(Arg1083Trp)	NC_000023.10:g.50119782G>A	VUS	1 lab	9e29ed5960
17:29686029 NF1 CA>C	17	29686029	29686032	CA	C	NF1	c.8159del	NM_001042492.3	NP_001035957.1:p.(Lys2720SerfsTer19)	NC_000017.10:g.29686032del	(Likely) pathogenic	1 lab	9e2ab5bb94
20:33517252 GSS C>T	20	33517252	33517252	C	T	GSS	c.1253G>A	NM_001322495.1	NP_001309424.1:p.(Arg418Gln)	NC_000020.10:g.33517252C>T	(Likely) benign	1 lab	9e2c9d43d6
17:78188036 SGSH C>T	17	78188036	78188036	C	T	SGSH	c.598G>A	NM_001352921.1	NP_001339850.1:p.(Gly200Arg)	NC_000017.10:g.78188036C>T	VUS	1 lab	9e2d8928c8
11:116700777 APOC3 G>C	11	116700777	116700777	G	C	APOC3	c.-14+121G>C	NM_000040.2	NP_000031.1:p.?	NC_000011.9:g.116700777G>C	(Likely) benign	1 lab	9e2f7bfcc1
2:219887049 CFAP65 C>T	2	219887049	219887049	C	T	CFAP65	c.2823G>A	NM_194302.3	NP_919278.2:p.(Thr941=)	NC_000002.11:g.219887049C>T	(Likely) benign	1 lab	9e3282c82f
20:33033083 ITCH C>T	20	33033083	33033083	C	T	ITCH	c.1089-9C>T	NM_001257137.2	NP_001244066.1:p.?	NC_000020.10:g.33033083C>T	(Likely) benign	1 lab	9e328673d2
16:67660554 CTCF A>G	16	67660554	67660554	A	G	CTCF	c.1454A>G	NM_006565.3	NP_006556.1:p.(His485Arg)	NC_000016.9:g.67660554A>G	(Likely) pathogenic	1 lab	9e32b695d7
1:36933761 CSF3R C>A	1	36933761	36933761	C	A	CSF3R	c.1638G>T	NM_156039.3	NP_724781.1:p.(Glu546Asp)	NC_000001.10:g.36933761C>A	(Likely) benign	1 lab	9e36b74bc1
X:153688894 PLXNA3 G>A	X	153688894	153688894	G	A	PLXNA3	c.371G>A	NM_017514.4	NP_059984.3:p.(Arg124His)	NC_000023.10:g.153688894G>A	(Likely) benign	1 lab	9e37e87614
X:73960072 NEXMIF G>A	X	73960072	73960072	G	A	NEXMIF	c.4320C>T	NM_001008537.2	NP_001008537.1:p.(Asn1440=)	NC_000023.10:g.73960072G>A	(Likely) benign	1 lab	9e389cae84
X:147010257 FMR1 C>T	X	147010257	147010257	C	T	FMR1	c.351C>T	NM_002024.5	NP_002015.1:p.(Pro117=)	NC_000023.10:g.147010257C>T	(Likely) benign	1 lab	9e3b24579f
2:61275783 PEX13 G>A	2	61275783	61275783	G	A	PEX13	c.1090G>A	NM_002618.3	NP_002609.1:p.(Ala364Thr)	NC_000002.11:g.61275783G>A	(Likely) benign	1 lab	9e3c24779f
5:131973882 RAD50 G>A	5	131973882	131973882	G	A	RAD50	c.3585G>A	NM_005732.3	NP_005723.2:p.(Leu1195=)	NC_000005.9:g.131973882G>A	(Likely) benign	1 lab	9e3ec9d346
2:227924263 COL4A4 G>A	2	227924263	227924263	G	A	COL4A4	c.2241C>T	NM_000092.4	NP_000083.3:p.(Pro747=)	NC_000002.11:g.227924263G>A	(Likely) benign	1 lab	9e3f78d49c
6:132021794 OR2A4 C>A	6	132021794	132021794	C	A	OR2A4	c.748G>T	NM_030908.2	NP_112170.1:p.(Val250Phe)	NC_000006.11:g.132021794C>A	(Likely) benign	1 lab	9e3f85c80b
13:32969046 BRCA2 C>A	13	32969046	32969046	C	A	BRCA2	c.9477C>A	NM_000059.3	NP_000050.2:p.(Phe3159Leu)	NC_000013.10:g.32969046C>A	(Likely) benign	1 lab	9e40160b14
1:198663279 PTPRC A>C	1	198663279	198663279	A	C	PTPRC	c.233A>C	NM_001267798.1	NP_001254727.1:p.(Lys78Thr)	NC_000001.10:g.198663279A>C	(Likely) benign	1 lab	9e410a1c40
15:99645473 SYNM A>G	15	99645473	99645473	A	G	SYNM	c.68A>G	NM_145728.2	NP_663780.2:p.(Tyr23Cys)	NC_000015.9:g.99645473A>G	(Likely) benign	1 lab	9e4646791f
1:50884431 DMRTA2 C>T	1	50884431	50884431	C	T	DMRTA2	c.1535G>A	NM_032110.3	NP_115486.1:p.(Arg512His)	NC_000001.10:g.50884431C>T	VUS	1 lab	9e4809c54d
2:179481486 TTN T>C	2	179481486	179481486	T	C	TTN	c.48130A>G	NM_001267550.1	NP_001254479.1:p.(Ile16044Val)	NC_000002.11:g.179481486T>C	VUS	1 lab	9e48441103
X:54475380 FGD1 G>A	X	54475380	54475380	G	A	FGD1	c.2295C>T	NM_004463.2	NP_004454.2:p.(Ser765=)	NC_000023.10:g.54475380G>A	(Likely) benign	1 lab	9e4ac2463d
2:97779478 ANKRD36 T>A	2	97779478	97779478	T	A	ANKRD36	c.2T>A	NM_001354587.1	NP_001341516.1:p.(Met1?)	NC_000002.11:g.97779478T>A	VUS	1 lab	9e4c2de034
15:57212228 TCF12 TTTTG>T	15	57212228	57212251	TTTTG	T	TCF12	c.75+62_75+65del	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57212248_57212251del	(Likely) benign	1 lab	9e4c831cd8
2:135893343 RAB3GAP1 C>T	2	135893343	135893343	C	T	RAB3GAP1	c.1764C>T	NM_001172435.1	NP_001165906.1:p.(Cys588=)	NC_000002.11:g.135893343C>T	(Likely) benign	1 lab	9e4d4193ed
5:150947664 FAT2 C>G	5	150947664	150947664	C	G	FAT2	c.829G>C	NM_001447.2	NP_001438.1:p.(Val277Leu)	NC_000005.9:g.150947664C>G	(Likely) benign	1 lab	9e4f96c129
3:93762094 ARL13B C>G	3	93762094	93762094	C	G	ARL13B	c.1024+10C>G	NM_001174150.1	NP_001167621.1:p.?	NC_000003.11:g.93762094C>G	(Likely) benign	1 lab	9e5093a914
17:80043383 FASN T>C	17	80043383	80043383	T	C	FASN	c.4097A>G	NM_004104.5	NP_004095.4:p.(Gln1366Arg)	NC_000017.10:g.80043383T>C	VUS	1 lab	9e5112e416
14:23244693 SLC7A7 T>C	14	23244693	23244693	T	C	SLC7A7	c.1055A>G	NM_001126106.2	NP_001119578.1:p.(His352Arg)	NC_000014.8:g.23244693T>C	VUS	1 lab	9e5134b2b3
10:50684358 ERCC6 T>C	10	50684358	50684358	T	C	ERCC6	c.2287-2A>G	NM_000124.2	NP_000115.1:p.?	NC_000010.10:g.50684358T>C	(Likely) pathogenic	1 lab	9e5287c9d5
2:152424881 NEB T>G	2	152424881	152424881	T	G	NEB	c.17685A>C	NM_001271208.1	NP_001258137.1:p.(Thr5895=)	NC_000002.11:g.152424881T>G	(Likely) benign	1 lab	9e563d91da
18:60384143 PHLPP1 G>A	18	60384143	60384143	G	A	PHLPP1	c.1227G>A	NM_194449.3	NP_919431.2:p.(Thr409=)	NC_000018.9:g.60384143G>A	(Likely) benign	1 lab	9e56794f95
16:72130254 DHX38 C>T	16	72130254	72130254	C	T	DHX38	c.198C>T	NM_014003.3	NP_054722.2:p.(Asp66=)	NC_000016.9:g.72130254C>T	(Likely) benign	1 lab	9e56d2075b
22:36661674 APOL1 C>A	22	36661674	36661674	C	A	APOL1	c.840C>A	NM_145343.2	NP_663318.1:p.(Asn280Lys)	NC_000022.10:g.36661674C>A	(Likely) benign	1 lab	9e5768c2a7
7:103393603 RELN A>G	7	103393603	103393603	A	G	RELN	c.577+26T>C	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103393603A>G	(Likely) benign	1 lab	9e58cc5509
7:106876905 COG5 TCAG>T	7	106876905	106876913	TCAG	T	COG5	c.2078_2080del	NM_006348.5	NP_006339.4:p.(Ala693del)	NC_000007.13:g.106876911_106876913del	(Likely) pathogenic	1 lab	9e58f35708
3:12545087 TSEN2 A>C	3	12545087	12545087	A	C	TSEN2	c.635A>C	NM_025265.3	NP_079541.1:p.(Glu212Ala)	NC_000003.11:g.12545087A>C	(Likely) benign	1 lab	9e5aaa9f98
7:92762155 SAMD9L G>A	7	92762155	92762155	G	A	SAMD9L	c.3130C>T	NM_152703.4	NP_689916.2:p.(Arg1044Cys)	NC_000007.13:g.92762155G>A	VUS	1 lab	9e5ce4793a
X:49084912 CACNA1F G>T	X	49084912	49084912	G	T	CACNA1F	c.818-3C>A	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49084912G>T	VUS	1 lab	f55ee5842b
11:18313044 HPS5 C>T	11	18313044	18313044	C	T	HPS5	c.2385G>A	NM_181507.1	NP_852608.1:p.(Lys795=)	NC_000011.9:g.18313044C>T	(Likely) benign	1 lab	9e5e5ae1df
10:134218407 PWWP2B A>T	10	134218407	134218407	A	T	PWWP2B	c.403A>T	NM_138499.4	NP_612508.3:p.(Thr135Ser)	NC_000010.10:g.134218407A>T	VUS	1 lab	9e61d5aab0
1:152327007 FLG2 T>C	1	152327007	152327007	T	C	FLG2	c.3255A>G	NM_001014342.2	NP_001014364.1:p.(Gln1085=)	NC_000001.10:g.152327007T>C	(Likely) benign	1 lab	9e67f794a4
6:70970397 COL9A1 C>T	6	70970397	70970397	C	T	COL9A1	c.1412G>A	NM_001851.4	NP_001842.3:p.(Arg471Gln)	NC_000006.11:g.70970397C>T	VUS	1 lab	9e6a57c56d
X:135741382 CD40LG C>T	X	135741382	135741382	C	T	CD40LG	c.594C>T	NM_000074.2	NP_000065.1:p.(Pro198=)	NC_000023.10:g.135741382C>T	(Likely) benign	1 lab	9e6b3cbd80
14:68221905 ZFYVE26 T>C	14	68221905	68221905	T	C	ZFYVE26	c.6849A>G	NM_015346.3	NP_056161.2:p.(Thr2283=)	NC_000014.8:g.68221905T>C	(Likely) benign	1 lab	9e6b40619c
7:4830829 AP5Z1 C>T	7	4830829	4830829	C	T	AP5Z1	c.2237C>T	NM_014855.3	NP_055670.1:p.(Ala746Val)	NC_000007.13:g.4830829C>T	VUS	1 lab	9e6c4008be
5:176719037 NSD1 C>CA	5	176719037	176719040	C	CA	NSD1	c.6344dup	NM_022455.4	NP_071900.2:p.(Glu2116GlyfsTer5)	NC_000005.9:g.176719040dup	(Likely) pathogenic	1 lab	9e6cf690f3
16:2113013 TSC2 G>A	16	2113013	2113013	G	A	TSC2	c.1402G>A	NM_001114382.2	NP_001107854.1:p.(Val468Met)	NC_000016.9:g.2113013G>A	VUS	1 lab	9e6e3c8369
1:197070145 ASPM G>A	1	197070145	197070145	G	A	ASPM	c.8236C>T	NM_018136.4	NP_060606.3:p.(Gln2746Ter)	NC_000001.10:g.197070145G>A	(Likely) pathogenic	1 lab	9e6fd77528
4:88536800 DSPP G>A	4	88536800	88536800	G	A	DSPP	c.2986G>A	NM_014208.3	NP_055023.2:p.(Asp996Asn)	NC_000004.11:g.88536800G>A	(Likely) benign	1 lab	9e700247b2
6:49409574 MMUT TCTTTA>T	6	49409574	49409583	TCTTTA	T	MMUT	c.1782_1786del	NM_000255.4	NP_000246.2:p.(Ser594ArgfsTer11)	NC_000006.11:g.49409579_49409583del	VUS	1 lab	9e7082e0cf
10:73537454 CDH23 C>T	10	73537454	73537454	C	T	CDH23	c.4863C>T	NM_022124.5	NP_071407.4:p.(Tyr1621=)	NC_000010.10:g.73537454C>T	(Likely) benign	1 lab	9e7094629c
7:74203043 NCF1 C>A	7	74203043	74203043	C	A	NCF1	c.1046C>A	NM_000265.5	NP_000256.4:p.(Pro349Gln)	NC_000007.13:g.74203043C>A	(Likely) benign	1 lab	9e719e1f73
14:35497298 SRP54 C>T	14	35497298	35497298	C	T	SRP54	c.1332C>T	NM_003136.4	NP_003127.1:p.(Gly444=)	NC_000014.8:g.35497298C>T	(Likely) benign	1 lab	9e7278e5c1
2:15555748 NBAS T>C	2	15555748	15555748	T	C	NBAS	c.2859A>G	NM_015909.3	NP_056993.2:p.(Leu953=)	NC_000002.11:g.15555748T>C	(Likely) benign	1 lab	9e74735d61
11:118390431 KMT2A C>T	11	118390431	118390431	C	T	KMT2A	c.11245C>T	NM_001197104.1	NP_001184033.1:p.(Arg3749Cys)	NC_000011.9:g.118390431C>T	VUS	1 lab	9e74976895
X:41587109 GPR82 A>G	X	41587109	41587109	A	G	GPR82	c.830A>G	NM_080817.4	NP_543007.1:p.(Gln277Arg)	NC_000023.10:g.41587109A>G	(Likely) benign	1 lab	9e74b06ec9
10:102541091 PAX2 C>A	10	102541091	102541091	C	A	PAX2	c.585C>A	NM_003988.4	NP_003979.2:p.(Arg195=)	NC_000010.10:g.102541091C>A	(Likely) benign	1 lab	9e77507485
1:220335594 RAB3GAP2 C>T	1	220335594	220335594	C	T	RAB3GAP2	c.3171G>A	NM_012414.3	NP_036546.2:p.(Met1057Ile)	NC_000001.10:g.220335594C>T	(Likely) benign	1 lab	9e7a3adb43
14:105416672 AHNAK2 G>T	14	105416672	105416672	G	T	AHNAK2	c.5116C>A	NM_138420.3	NP_612429.2:p.(Leu1706Ile)	NC_000014.8:g.105416672G>T	(Likely) benign	1 lab	9e7b479040
10:89725086 PTEN C>A	10	89725086	89725086	C	A	PTEN	c.1069C>A	NM_000314.4	NP_000305.3:p.(Pro357Thr)	NC_000010.10:g.89725086C>A	(Likely) benign	1 lab	9e7bf3a7c5
16:2134530 TSC2 ACAGT>A	16	2134530	2134535	ACAGT	A	TSC2	c.4309_4312del	NM_000548.5	NP_000539.2:p.(Ser1437GlyfsTer38)	NC_000016.9:g.2134532_2134535del	(Likely) pathogenic	1 lab	9e7c07680b
3:193384115 OPA1 C>G	3	193384115	193384115	C	G	OPA1	c.2809C>G	NM_130837.2	NP_570850.2:p.(Arg937Gly)	NC_000003.11:g.193384115C>G	VUS	1 lab	9e7d496982
10:103827013 HPS6 C>G	10	103827013	103827013	C	G	HPS6	c.1782C>G	NM_024747.5	NP_079023.2:p.(Gly594=)	NC_000010.10:g.103827013C>G	(Likely) benign	1 lab	9e7dfe928d
2:200244605 SATB2 AT>A	2	200244605	200244618	AT	A	SATB2	c.597+481del	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200244618del	(Likely) benign	1 lab	9e7e8accd7
11:64503379 RASGRP2 G>T	11	64503379	64503379	G	T	RASGRP2	c.1169C>A	NM_153819.1	NP_722541.1:p.(Ser390Tyr)	NC_000011.9:g.64503379G>T	VUS	1 lab	9e7e9d0298
X:153693487 PLXNA3 C>T	X	153693487	153693487	C	T	PLXNA3	c.2170C>T	NM_017514.4	NP_059984.3:p.(Arg724Trp)	NC_000023.10:g.153693487C>T	VUS	1 lab	9e7ea134df
12:8982383 A2ML1 GGGA>G	12	8982383	8982393	GGGA	G	A2ML1	c.462+16_462+18del	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8982391_8982393del	(Likely) benign	1 lab	9e7eaad65d
16:28917367 RABEP2 G>C	16	28917367	28917367	G	C	RABEP2	c.1396C>G	NM_024816.3	NP_079092.2:p.(Gln466Glu)	NC_000016.9:g.28917367G>C	(Likely) benign	1 lab	9e80630df2
X:153130539 L1CAM G>T	X	153130539	153130539	G	T	L1CAM	c.2872+4C>A	NM_001278116.1	NP_001265045.1:p.?	NC_000023.10:g.153130539G>T	(Likely) benign	1 lab	9e80ff2646
1:78383398 NEXN G>A	1	78383398	78383398	G	A	NEXN	c.175G>A	NM_144573.3	NP_653174.3:p.(Glu59Lys)	NC_000001.10:g.78383398G>A	VUS	1 lab	9e81496957
8:25232122 DOCK5 C>T	8	25232122	25232122	C	T	DOCK5	c.3768C>T	NM_024940.7	NP_079216.4:p.(Asn1256=)	NC_000008.10:g.25232122C>T	(Likely) benign	1 lab	9e82fb7864
5:149323781 PDE6A G>A	5	149323781	149323781	G	A	PDE6A	c.456C>T	NM_000440.2	NP_000431.2:p.(Asn152=)	NC_000005.9:g.149323781G>A	(Likely) benign	1 lab	9e873e9d34
7:92761430 SAMD9L T>C	7	92761430	92761430	T	C	SAMD9L	c.3855A>G	NM_152703.4	NP_689916.2:p.(Lys1285=)	NC_000007.13:g.92761430T>C	(Likely) benign	1 lab	9e87956bcc
18:29126099 DSG2 C>T	18	29126099	29126099	C	T	DSG2	c.2750C>T	NM_001943.3	NP_001934.2:p.(Ala917Val)	NC_000018.9:g.29126099C>T	(Likely) benign	1 lab	9e87b99f1b
10:104136725 GBF1 A>C	10	104136725	104136725	A	C	GBF1	c.4319A>C	NM_004193.2	NP_004184.1:p.(His1440Pro)	NC_000010.10:g.104136725A>C	VUS	1 lab	9e88b3f772
3:43122685 POMGNT2 C>T	3	43122685	43122685	C	T	POMGNT2	c.239G>A	NM_032806.5	NP_116195.2:p.(Arg80His)	NC_000003.11:g.43122685C>T	(Likely) benign	1 lab	9e8c56df0a
19:50781381 MYH14 C>T	19	50781381	50781381	C	T	MYH14	c.3867C>T	NM_001145809.1	NP_001139281.1:p.(Ala1289=)	NC_000019.9:g.50781381C>T	(Likely) benign	1 lab	9e8d0f857f
12:111072248 TCTN1 G>A	12	111072248	111072248	G	A	TCTN1	c.760G>A	NM_024549.5	NP_078825.2:p.(Glu254Lys)	NC_000012.11:g.111072248G>A	(Likely) benign	1 lab	9e8f616976
10:102750244 TWNK T>C	10	102750244	102750244	T	C	TWNK	c.1536T>C	NM_001163812.1	NP_001157284.1:p.(His512=)	NC_000010.10:g.102750244T>C	(Likely) benign	1 lab	9e900083d5
14:53619671 DDHD1 G>A	14	53619671	53619671	G	A	DDHD1	c.146C>T	NM_001160148.1	NP_001153620.1:p.(Pro49Leu)	NC_000014.8:g.53619671G>A	VUS	1 lab	9e90645d2a
11:17579765 OTOG A>G	11	17579765	17579765	A	G	OTOG	c.935A>G	NM_001277269.1	NP_001264198.1:p.(His312Arg)	NC_000011.9:g.17579765A>G	VUS	1 lab	9e91cbe188
1:103352568 COL11A1 G>T	1	103352568	103352568	G	T	COL11A1	c.4689C>A	NM_080629.2	NP_542196.2:p.(Ser1563=)	NC_000001.10:g.103352568G>T	(Likely) benign	1 lab	9e93d48124
12:80750699 OTOGL G>A	12	80750699	80750699	G	A	OTOGL	c.5992+5G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80750699G>A	VUS	1 lab	9e93da163a
12:6978463 TPI1 C>T	12	6978463	6978463	C	T	TPI1	c.120C>T	NM_001258026.1	NP_001244955.1:p.(Leu40=)	NC_000012.11:g.6978463C>T	(Likely) benign	1 lab	9e9417c32c
6:31905231 C2 C>G	6	31905231	31905231	C	G	C2	c.1037C>G	NM_001282458.1	NP_001269387.1:p.(Thr346Arg)	NC_000006.11:g.31905231C>G	VUS	1 lab	9e950bd45a
8:145111890 OPLAH T>C	8	145111890	145111890	T	C	OPLAH	c.1667A>G	NM_017570.4	NP_060040.1:p.(Glu556Gly)	NC_000008.10:g.145111890T>C	(Likely) benign	1 lab	9e95372e99
10:97447487 TCTN3 T>A	10	97447487	97447487	T	A	TCTN3	c.500-11A>T	NM_015631.5	NP_056446.4:p.?	NC_000010.10:g.97447487T>A	(Likely) benign	1 lab	9e957c6983
22:38122455 TRIOBP C>T	22	38122455	38122455	C	T	TRIOBP	c.3892C>T	NM_001039141.2	NP_001034230.1:p.(Arg1298Cys)	NC_000022.10:g.38122455C>T	VUS	1 lab	9e96fe322a
14:50101140 DNAAF2 T>G	14	50101140	50101140	T	G	DNAAF2	c.728A>C	NM_018139.2	NP_060609.2:p.(Glu243Ala)	NC_000014.8:g.50101140T>G	VUS	1 lab	9e9aa1aaa8
4:6302714 WFS1 G>A	4	6302714	6302714	G	A	WFS1	c.1192G>A	NM_006005.3	NP_005996.2:p.(Gly398Ser)	NC_000004.11:g.6302714G>A	VUS	1 lab	9e9d3a9542
15:40937234 KNL1 T>C	15	40937234	40937234	T	C	KNL1	c.5916T>C	NM_170589.4	NP_733468.3:p.(Val1972=)	NC_000015.9:g.40937234T>C	(Likely) benign	1 lab	9e9d544496
17:27182218 ERAL1 C>A	17	27182218	27182218	C	A	ERAL1	c.166C>A	NM_001317985.1	NP_001304914.1:p.(Arg56Ser)	NC_000017.10:g.27182218C>A	VUS	1 lab	9e9e4e0327
X:6069454 NLGN4X G>A	X	6069454	6069454	G	A	NLGN4X	c.54C>T	NM_001282145.1	NP_001269074.1:p.(Cys18=)	NC_000023.10:g.6069454G>A	(Likely) benign	1 lab	9e9f7c10de
15:86807803 AGBL1 C>G	15	86807803	86807803	C	G	AGBL1	c.1401C>G	NM_152336.3	NP_689549.3:p.(Ala467=)	NC_000015.9:g.86807803C>G	(Likely) benign	1 lab	9ea192c1b1
11:117263809 CEP164 G>A	11	117263809	117263809	G	A	CEP164	c.2583G>A	NM_014956.4	NP_055771.4:p.(Val861=)	NC_000011.9:g.117263809G>A	(Likely) benign	1 lab	9ea266ca19
4:2831498 SH3BP2 C>T	4	2831498	2831498	C	T	SH3BP2	c.865C>T	NM_003023.4	NP_003014.3:p.(Pro289Ser)	NC_000004.11:g.2831498C>T	(Likely) benign	1 lab	9ea2c8a0b3
11:61160701 TMEM216 A>G	11	61160701	61160701	A	G	TMEM216	c.35-2A>G	NM_001173991.2	NP_001167462.1:p.?	NC_000011.9:g.61160701A>G	(Likely) pathogenic	1 lab	9ea3069c72
9:139418261 NOTCH1 T>C	9	139418261	139418261	T	C	NOTCH1	c.311A>G	NM_017617.5	NP_060087.3:p.(Asn104Ser)	NC_000009.11:g.139418261T>C	VUS	1 lab	9ea4b8c5b4
10:73565684 CDH23 T>C	10	73565684	73565684	T	C	CDH23	c.7994T>C	NM_022124.5	NP_071407.4:p.(Ile2665Thr)	NC_000010.10:g.73565684T>C	(Likely) benign	1 lab	9ea4ebfd0a
17:1631304 WDR81 C>T	17	1631304	1631304	C	T	WDR81	c.3051C>T	NM_001163809.1	NP_001157281.1:p.(Ala1017=)	NC_000017.10:g.1631304C>T	(Likely) benign	1 lab	9ea8121b92
19:7141826 INSR G>A	19	7141826	7141826	G	A	INSR	c.2544C>T	NM_000208.3	NP_000199.2:p.(Ala848=)	NC_000019.9:g.7141826G>A	(Likely) benign	1 lab	9ea9a022fd
4:126412558 FAT4 A>G	4	126412558	126412558	A	G	FAT4	c.14587A>G	NM_001291303.1	NP_001278232.1:p.(Met4863Val)	NC_000004.11:g.126412558A>G	(Likely) benign	1 lab	9eaca37305
12:85459071 LRRIQ1 G>C	12	85459071	85459071	G	C	LRRIQ1	c.2423G>C	NM_001079910.2	NP_001073379.1:p.(Gly808Ala)	NC_000012.11:g.85459071G>C	VUS	1 lab	9ead6ce4de
1:114438527 AP4B1 C>T	1	114438527	114438527	C	T	AP4B1	c.1644G>A	NM_006594.4	NP_006585.2:p.(Pro548=)	NC_000001.10:g.114438527C>T	(Likely) benign	1 lab	9eadb86fe8
1:210194553 SYT14 A>G	1	210194553	210194553	A	G	SYT14	c.282A>G	NM_001256006.1	NP_001242935.1:p.(Leu94=)	NC_000001.10:g.210194553A>G	(Likely) benign	1 lab	9eadeedf43
17:29486112 NF1 G>C	17	29486112	29486112	G	C	NF1	c.288+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486112G>C	(Likely) pathogenic	1 lab	9eb19b8204
17:76135295 TMC8 C>T	17	76135295	76135295	C	T	TMC8	c.1876C>T	NM_152468.4	NP_689681.2:p.(His626Tyr)	NC_000017.10:g.76135295C>T	(Likely) benign	1 lab	9eb29a1985
11:88911160 TYR C>A	11	88911160	88911160	C	A	TYR	c.39C>A	NM_000372.4	NP_000363.1:p.(Phe13Leu)	NC_000011.9:g.88911160C>A	VUS	1 lab	9eb72a1dc9
1:226109327 PYCR2 G>A	1	226109327	226109327	G	A	PYCR2	c.558C>T	NM_013328.3	NP_037460.2:p.(Asp186=)	NC_000001.10:g.226109327G>A	(Likely) benign	1 lab	9eb73b8729
17:4924127 KIF1C G>A	17	4924127	4924127	G	A	KIF1C	c.1964G>A	NM_006612.5	NP_006603.2:p.(Arg655Gln)	NC_000017.10:g.4924127G>A	VUS	1 lab	9eb7928356
X:153037067 PLXNB3 C>T	X	153037067	153037067	C	T	PLXNB3	c.2543C>T	NM_001163257.1	NP_001156729.1:p.(Pro848Leu)	NC_000023.10:g.153037067C>T	(Likely) benign	1 lab	9eb9889741
6:160430125 IGF2R A>G	6	160430125	160430125	A	G	IGF2R	c.373A>G	NM_000876.3	NP_000867.2:p.(Arg125Gly)	NC_000006.11:g.160430125A>G	(Likely) benign	1 lab	9eba0ba608
1:234743075 IRF2BP2 G>T	1	234743075	234743075	G	T	IRF2BP2	c.1572C>A	NM_182972.2	NP_892017.2:p.(Val524=)	NC_000001.10:g.234743075G>T	(Likely) benign	1 lab	9ebad14f43
2:74596345 DCTN1 G>C	2	74596345	74596345	G	C	DCTN1	c.1585-4C>G	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74596345G>C	(Likely) benign	1 lab	9ebce44594
4:73414482 ADAMTS3 C>T	4	73414482	73414482	C	T	ADAMTS3	c.217G>A	NM_014243.2	NP_055058.2:p.(Val73Met)	NC_000004.11:g.73414482C>T	VUS	1 lab	9ebe6a7a7e
11:128709670 KCNJ1 C>T	11	128709670	128709670	C	T	KCNJ1	c.469G>A	NM_153767.3	NP_722451.1:p.(Gly157Arg)	NC_000011.9:g.128709670C>T	VUS	1 lab	9ebeb7c703
X:153657162 ATP6AP1 G>A	X	153657162	153657162	G	A	ATP6AP1	c.124G>A	NM_001183.5	NP_001174.2:p.(Glu42Lys)	NC_000023.10:g.153657162G>A	(Likely) benign	1 lab	9ebf341cb4
6:152529263 SYNE1 C>T	6	152529263	152529263	C	T	SYNE1	c.22668G>A	NM_182961.3	NP_892006.3:p.(Gly7556=)	NC_000006.11:g.152529263C>T	(Likely) benign	1 lab	9ebf50bd5b
X:107018413 TSC22D3 C>T	X	107018413	107018413	C	T	TSC22D3	c.237G>A	NM_198057.2	NP_932174.1:p.(Arg79=)	NC_000023.10:g.107018413C>T	(Likely) benign	1 lab	9ebf5c313b
9:123751882 C5 T>C	9	123751882	123751882	T	C	C5	c.3136A>G	NM_001317163.1	NP_001304092.1:p.(Ile1046Val)	NC_000009.11:g.123751882T>C	VUS	1 lab	9ebfc41f8b
X:48341097 FTSJ1 G>A	X	48341097	48341097	G	A	FTSJ1	c.866G>A	NM_177439.2	NP_803188.1:p.(Arg289His)	NC_000023.10:g.48341097G>A	(Likely) benign	1 lab	9ec0c71d23
1:13111564 MISSING C>T	1	13111564	13111564	C	T	MISSING				NC_000001.10:g.13111564C>T	(Likely) benign	1 lab	9ec13ca789
X:69459686 AWAT1 G>A	X	69459686	69459686	G	A	AWAT1	c.734G>A	NM_001013579.2	NP_001013597.1:p.(Arg245His)	NC_000023.10:g.69459686G>A	(Likely) benign	1 lab	9ec1e0f93b
10:1262919 ADARB2 T>C	10	1262919	1262919	T	C	ADARB2	c.1654A>G	NM_018702.4	NP_061172.1:p.(Thr552Ala)	NC_000010.10:g.1262919T>C	VUS	1 lab	9ec3c45129
2:136566257 LCT C>A	2	136566257	136566257	C	A	LCT	c.3660G>T	NM_002299.2	NP_002290.2:p.(Arg1220Ser)	NC_000002.11:g.136566257C>A	(Likely) benign	1 lab	9ec442595c
15:43896840 STRC G>A	15	43896840	43896840	G	A	STRC	c.4127+8C>T	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43896840G>A	(Likely) benign	1 lab	9ec46dc49b
10:49937498 WDFY4 C>A	10	49937498	49937498	C	A	WDFY4	c.993C>A	NM_020945.1	NP_065996.1:p.(Ser331Arg)	NC_000010.10:g.49937498C>A	(Likely) benign	1 lab	9ec571bbe3
17:73824877 UNC13D C>T	17	73824877	73824877	C	T	UNC13D	c.3142G>A	NM_199242.2	NP_954712.1:p.(Ala1048Thr)	NC_000017.10:g.73824877C>T	(Likely) benign	1 lab	9ec6aaded3
2:55900105 PNPT1 T>C	2	55900105	55900105	T	C	PNPT1	c.789A>G	NM_033109.4	NP_149100.2:p.(Val263=)	NC_000002.11:g.55900105T>C	(Likely) benign	1 lab	9ec79b11c0
9:135802654 TSC1 A>T	9	135802654	135802654	A	T	TSC1	c.144T>A	NM_000368.4	NP_000359.1:p.(Tyr48Ter)	NC_000009.11:g.135802654A>T	(Likely) pathogenic	1 lab	9ec7f5104d
17:38975212 KRT10 A>G	17	38975212	38975212	A	G	KRT10	c.1575T>C	NM_000421.3	NP_000412.3:p.(Ser525=)	NC_000017.10:g.38975212A>G	(Likely) benign	1 lab	9ec8d7fa70
6:162864403 PRKN G>A	6	162864403	162864403	G	A	PRKN	c.110C>T	NM_004562.2	NP_004553.2:p.(Pro37Leu)	NC_000006.11:g.162864403G>A	VUS	1 lab	9ec91c6974
3:142281346 ATR T>G	3	142281346	142281346	T	G	ATR	c.898A>C	NM_001184.3	NP_001175.2:p.(Lys300Gln)	NC_000003.11:g.142281346T>G	(Likely) benign	1 lab	9eca939191
2:241664787 KIF1A T>C	2	241664787	241664787	T	C	KIF1A	c.4157A>G	NM_001244008.1	NP_001230937.1:p.(Lys1386Arg)	NC_000002.11:g.241664787T>C	VUS	1 lab	9ecabd1602
17:7606119 WRAP53 G>A	17	7606119	7606119	G	A	WRAP53	c.1223G>A	NM_018081.2	NP_060551.2:p.(Gly408Asp)	NC_000017.10:g.7606119G>A	(Likely) benign	1 lab	9ecafb36ce
8:38947698 ADAM9 A>T	8	38947698	38947698	A	T	ADAM9	c.2201A>T	NM_003816.2	NP_003807.1:p.(Gln734Leu)	NC_000008.10:g.38947698A>T	VUS	1 lab	9ecb3bc44e
20:43945150 RBPJL C>T	20	43945150	43945150	C	T	RBPJL	c.1210C>T	NM_001281448.1	NP_001268377.1:p.(Leu404Phe)	NC_000020.10:g.43945150C>T	VUS	1 lab	9ecc2a403a
17:4927139 KIF1C C>T	17	4927139	4927139	C	T	KIF1C	c.3005C>T	NM_006612.5	NP_006603.2:p.(Pro1002Leu)	NC_000017.10:g.4927139C>T	(Likely) benign	1 lab	9ecdd16965
16:16248589 ABCC6 G>A	16	16248589	16248589	G	A	ABCC6	c.3762C>T	NM_001351800.1	NP_001338729.1:p.(Asp1254=)	NC_000016.9:g.16248589G>A	(Likely) benign	1 lab	9ecf73c589
X:153694365 PLXNA3 C>T	X	153694365	153694365	C	T	PLXNA3	c.2620C>T	NM_017514.4	NP_059984.3:p.(Leu874=)	NC_000023.10:g.153694365C>T	(Likely) benign	1 lab	9ed19e90f4
2:48022981 MSH6 G>T	2	48022981	48022981	G	T	MSH6	c.458-52G>T	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48022981G>T	(Likely) benign	1 lab	9fe141e1db
13:110838900 COL4A1 C>G	13	110838900	110838900	C	G	COL4A1	c.1729G>C	NM_001845.5	NP_001836.3:p.(Gly577Arg)	NC_000013.10:g.110838900C>G	VUS	1 lab	9ed30bc48d
1:5965854 NPHP4 C>T	1	5965854	5965854	C	T	NPHP4	c.1612-11G>A	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.5965854C>T	VUS	1 lab	fbb0ba89b1
X:3242674 MXRA5 T>A	X	3242674	3242674	T	A	MXRA5	c.1052A>T	NM_015419.3	NP_056234.2:p.(Asp351Val)	NC_000023.10:g.3242674T>A	VUS	1 lab	9ed350ec00
1:40770041 COL9A2 G>A	1	40770041	40770041	G	A	COL9A2	c.1238C>T	NM_001852.4	NP_001843.1:p.(Pro413Leu)	NC_000001.10:g.40770041G>A	VUS	1 lab	9ed42df1a8
17:56348039 MPO G>T	17	56348039	56348039	G	T	MPO	c.2216C>A	NM_000250.1	NP_000241.1:p.(Ala739Asp)	NC_000017.10:g.56348039G>T	(Likely) benign	1 lab	9ed4c7b590
10:103826514 HPS6 A>G	10	103826514	103826514	A	G	HPS6	c.1283A>G	NM_024747.5	NP_079023.2:p.(His428Arg)	NC_000010.10:g.103826514A>G	VUS	1 lab	9ed5ae4127
11:78270668 NARS2 G>A	11	78270668	78270668	G	A	NARS2	c.514-3C>T	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78270668G>A	(Likely) benign	1 lab	9ed701dfdc
18:6999568 LAMA1 C>A	18	6999568	6999568	C	A	LAMA1	c.4539G>T	NM_005559.3	NP_005550.2:p.(Pro1513=)	NC_000018.9:g.6999568C>A	(Likely) benign	1 lab	9ed79afda5
1:186276762 PRG4 T>C	1	186276762	186276762	T	C	PRG4	c.1911T>C	NM_005807.4	NP_005798.3:p.(Pro637=)	NC_000001.10:g.186276762T>C	(Likely) benign	1 lab	9ed933ac50
8:11400759 BLK C>T	8	11400759	11400759	C	T	BLK	c.26C>T	NM_001715.2	NP_001706.2:p.(Pro9Leu)	NC_000008.10:g.11400759C>T	(Likely) benign	1 lab	9ed9600266
22:41547908 EP300 T>C	22	41547908	41547908	T	C	EP300	c.2889T>C	NM_001429.3	NP_001420.2:p.(Asn963=)	NC_000022.10:g.41547908T>C	(Likely) benign	1 lab	9eda3b6351
4:123857310 AFG2A C>T	4	123857310	123857310	C	T	AFG2A	c.1333C>T	NM_145207.2	NP_660208.2:p.(Arg445Ter)	NC_000004.11:g.123857310C>T	(Likely) pathogenic	1 lab	9edd20e020
X:100668146 HNRNPH2 C>T	X	100668146	100668146	C	T	HNRNPH2	c.1170C>T	NM_001032393.2	NP_001027565.1:p.(Gly390=)	NC_000023.10:g.100668146C>T	(Likely) benign	1 lab	9ede986a7e
X:107863583 COL4A5 C>T	X	107863583	107863583	C	T	COL4A5	c.2604C>T	NM_033380.2	NP_203699.1:p.(Pro868=)	NC_000023.10:g.107863583C>T	(Likely) benign	1 lab	9edfe57d5f
20:746208 SLC52A3 C>T	20	746208	746208	C	T	SLC52A3	c.211G>A	NM_033409.3	NP_212134.3:p.(Glu71Lys)	NC_000020.10:g.746208C>T	VUS	1 lab	9ee0a56c34
10:79773530 POLR3A G>A	10	79773530	79773530	G	A	POLR3A	c.1450C>T	NM_007055.3	NP_008986.2:p.(Arg484Trp)	NC_000010.10:g.79773530G>A	VUS	1 lab	9ee10211e8
X:151935381 MAGEA3 G>A	X	151935381	151935381	G	A	MAGEA3	c.786C>T	NM_005362.3	NP_005353.1:p.(Pro262=)	NC_000023.10:g.151935381G>A	(Likely) benign	1 lab	9ee22b0824
X:132458329 GPC4 C>T	X	132458329	132458329	C	T	GPC4	c.555G>A	NM_001448.2	NP_001439.2:p.(Glu185=)	NC_000023.10:g.132458329C>T	(Likely) benign	1 lab	9ee269d99a
7:158705730 DYNC2I1 A>G	7	158705730	158705730	A	G	DYNC2I1	c.1645A>G	NM_018051.4	NP_060521.4:p.(Ile549Val)	NC_000007.13:g.158705730A>G	(Likely) benign	1 lab	9ee3a661dc
11:103062362 DYNC2H1 G>A	11	103062362	103062362	G	A	DYNC2H1	c.7540+14G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103062362G>A	(Likely) benign	1 lab	9ee820c252
X:17743822 NHS G>A	X	17743822	17743822	G	A	NHS	c.1596G>A	NM_001291867.1	NP_001278796.1:p.(Glu532=)	NC_000023.10:g.17743822G>A	(Likely) benign	1 lab	9eea49efee
X:102192906 RAB40AL C>G	X	102192906	102192906	C	G	RAB40AL	c.660C>G	NM_001031834.1	NP_001027004.1:p.(Ser220Arg)	NC_000023.10:g.102192906C>G	(Likely) benign	1 lab	9eea6cd933
8:38187109 NSD3 T>A	8	38187109	38187109	T	A	NSD3	c.1368A>T	NM_023034.1	NP_075447.1:p.(Thr456=)	NC_000008.10:g.38187109T>A	(Likely) benign	1 lab	9eea82178e
1:235850309 LYST C>T	1	235850309	235850309	C	T	LYST	c.10740G>A	NM_001301365.1	NP_001288294.1:p.(Leu3580=)	NC_000001.10:g.235850309C>T	(Likely) benign	1 lab	9eef3eff06
10:73405717 CDH23 G>A	10	73405717	73405717	G	A	CDH23	c.1270G>A	NM_022124.5	NP_071407.4:p.(Val424Met)	NC_000010.10:g.73405717G>A	VUS	1 lab	9ef00db6ae
9:98718269 ERCC6L2 A>G	9	98718269	98718269	A	G	ERCC6L2	c.1954A>G	NM_020207.4	NP_064592.2:p.(Met652Val)	NC_000009.11:g.98718269A>G	(Likely) benign	1 lab	9ef1d0e43f
16:2114433 TSC2 G>A	16	2114433	2114433	G	A	TSC2	c.1599+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2114433G>A	(Likely) pathogenic	1 lab	9ef21e1a23
X:30254849 MAGEB3 C>A	X	30254849	30254849	C	A	MAGEB3	c.808C>A	NM_002365.4	NP_002356.2:p.(Arg270Ser)	NC_000023.10:g.30254849C>A	(Likely) benign	1 lab	9ef3fd3596
18:32407621 DTNA A>G	18	32407621	32407621	A	G	DTNA	c.1075A>G	NM_001390.4	NP_001381.2:p.(Ser359Gly)	NC_000018.9:g.32407621A>G	(Likely) benign	1 lab	9ef44e7e1d
16:2135262 TSC2 T>A	16	2135262	2135262	T	A	TSC2	c.4601T>A	NM_000548.3	NP_000539.2:p.(Leu1534His)	NC_000016.9:g.2135262T>A	(Likely) pathogenic	1 lab	9ef4c9dd9c
14:58927695 KIAA0586 T>A	14	58927695	58927695	T	A	KIAA0586	c.1885-9T>A	NM_001329943.2	NP_001316872.1:p.?	NC_000014.8:g.58927695T>A	(Likely) benign	1 lab	9ef956dbf2
X:148564418 IDS GC>G	X	148564418	148564420	GC	G	IDS	c.1511del	NM_000202.8	NP_000193.1:p.(Gly504AlafsTer8)	NC_000023.10:g.148564420del	(Likely) pathogenic	1 lab	9efaafd5fe
3:197420610 RUBCN C>T	3	197420610	197420610	C	T	RUBCN	c.1627G>A	NM_001145642.4	NP_001139114.1:p.(Glu543Lys)	NC_000003.11:g.197420610C>T	VUS	1 lab	9efb862ead
3:132420381 NPHP3 G>GA	3	132420381	132420390	G	GA	NPHP3	c.1525-5dup	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132420390dup	(Likely) benign	1 lab	9efbd2c009
2:234669771 UGT1A1 TG>T	2	234669771	234669772	TG	T	UGT1A1	c.839del	NM_000463.3	NP_000454.1:p.(Cys280SerfsTer86)	NC_000002.11:g.234669772del	(Likely) pathogenic	1 lab	9efca0fc92
2:98351105 ZAP70 C>T	2	98351105	98351105	C	T	ZAP70	c.1012C>T	NM_001079.3	NP_001070.2:p.(Leu338Phe)	NC_000002.11:g.98351105C>T	VUS	1 lab	9efd9c6df0
14:75230776 YLPM1 C>T	14	75230776	75230776	C	T	YLPM1	c.584C>T	NM_019589.3	NP_062535.2:p.(Pro195Leu)	NC_000014.8:g.75230776C>T	VUS	1 lab	9efe0f3327
11:121430322 SORL1 C>T	11	121430322	121430322	C	T	SORL1	c.3005C>T	NM_003105.5	NP_003096.1:p.(Thr1002Met)	NC_000011.9:g.121430322C>T	VUS	1 lab	9effac08e9
17:78086424 GAA C>T	17	78086424	78086424	C	T	GAA	c.1802C>T	NM_000152.3	NP_000143.2:p.(Ser601Leu)	NC_000017.10:g.78086424C>T	(Likely) pathogenic	1 lab	9efffc7f26
19:18375972 IQCN G>A	19	18375972	18375972	G	A	IQCN	c.2378C>T	NM_001145304.2	NP_001138776.1:p.(Ala793Val)	NC_000019.9:g.18375972G>A	(Likely) benign	1 lab	9f01893b30
2:73676909 ALMS1 G>C	2	73676909	73676909	G	C	ALMS1	c.3258G>C	NM_015120.4	NP_055935.4:p.(Gln1086His)	NC_000002.11:g.73676909G>C	VUS	1 lab	9f01c7ef5c
17:1561674 PRPF8 G>T	17	1561674	1561674	G	T	PRPF8	c.5378C>A	NM_006445.3	NP_006436.3:p.(Thr1793Asn)	NC_000017.10:g.1561674G>T	VUS	1 lab	9f026e81e9
16:15758701 NDE1 G>A	16	15758701	15758701	G	A	NDE1	c.66G>A	NM_001143979.1	NP_001137451.1:p.(Ala22=)	NC_000016.9:g.15758701G>A	(Likely) benign	1 lab	9f034612ff
9:35059089 VCP C>T	9	35059089	35059089	C	T	VCP	c.2132G>A	NM_007126.3	NP_009057.1:p.(Arg711Gln)	NC_000009.11:g.35059089C>T	(Likely) benign	1 lab	9f038a0351
1:8045046 PARK7 A>G	1	8045046	8045046	A	G	PARK7	c.502A>G	NM_007262.4	NP_009193.2:p.(Ile168Val)	NC_000001.10:g.8045046A>G	VUS	1 lab	9f03c87431
17:29496932 NF1 C>A	17	29496932	29496932	C	A	NF1	c.503C>A	NM_000267.3	NP_000258.1:p.(Ser168Ter)	NC_000017.10:g.29496932C>A	(Likely) pathogenic	1 lab	9f0464c03a
14:23856958 MYH6 C>T	14	23856958	23856958	C	T	MYH6	c.4525+9G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23856958C>T	(Likely) benign	1 lab	9f2899feb6
5:45695901 HCN1 T>TGAACTGCCTCTGCATGAAGCC	5	45695901	45695923	T	TGAACTGCCTCTGCATGAAGCC	HCN1	c.274_294dup	NM_021072.3	NP_066550.2:p.(Gly92_Phe98dup)	NC_000005.9:g.45695903_45695923dup	VUS	1 lab	9f048183a5
X:149638227 MAMLD1 T>A	X	149638227	149638227	T	A	MAMLD1	c.382T>A	NM_005491.4	NP_005482.2:p.(Ser128Thr)	NC_000023.10:g.149638227T>A	(Likely) benign	1 lab	9f05da0225
16:51175174 SALL1 TG>T	16	51175174	51175176	TG	T	SALL1	c.958del	NM_002968.3	NP_002959.2:p.(Gln320SerfsTer22)	NC_000016.9:g.51175176del	(Likely) pathogenic	1 lab	9f08b0e92c
5:67522533 PIK3R1 G>A	5	67522533	67522533	G	A	PIK3R1	c.30G>A	NM_181523.2	NP_852664.1:p.(Ala10=)	NC_000005.9:g.67522533G>A	(Likely) benign	1 lab	9f0a106693
7:103179594 RELN CA>TG	7	103179594	103179595	CA	TG	RELN	c.7110_7111inv	NM_173054.2	NP_774959.1:p.(Ala2371Thr)	NC_000007.13:g.103179594_103179595inv	(Likely) benign	1 lab	9f0a9049f4
6:149700128 TAB2 C>T	6	149700128	149700128	C	T	TAB2	c.1077C>T	NM_015093.5	NP_055908.1:p.(Thr359=)	NC_000006.11:g.149700128C>T	(Likely) benign	1 lab	9f0ce4f5d9
17:71197829 COG1 G>T	17	71197829	71197829	G	T	COG1	c.1863G>T	NM_018714.2	NP_061184.1:p.(Leu621=)	NC_000017.10:g.71197829G>T	(Likely) benign	1 lab	9f0f4a68fd
1:92540868 SETSIP G>A	1	92540868	92540868	G	A	SETSIP	c.131C>T	NM_001287737.1	NP_001274666.1:p.(Pro44Leu)	NC_000001.10:g.92540868G>A	VUS	1 lab	9f0f9e5a96
9:43624725 SPATA31A6 G>A	9	43624725	43624725	G	A	SPATA31A6	c.3962C>T	NM_001145196.1	NP_001138668.1:p.(Pro1321Leu)	NC_000009.11:g.43624725G>A	VUS	1 lab	9f1039d13b
2:135848585 RAB3GAP1 C>T	2	135848585	135848585	C	T	RAB3GAP1	c.168C>T	NM_001172435.1	NP_001165906.1:p.(Gly56=)	NC_000002.11:g.135848585C>T	(Likely) benign	1 lab	9f10b2a9fa
14:44973726 FSCB G>A	14	44973726	44973726	G	A	FSCB	c.2465C>T	NM_032135.3	NP_115511.3:p.(Pro822Leu)	NC_000014.8:g.44973726G>A	(Likely) benign	1 lab	9f10ffebe1
X:100524212 TAF7L T>C	X	100524212	100524212	T	C	TAF7L	c.1358A>G	NM_024885.3	NP_079161.3:p.(Gln453Arg)	NC_000023.10:g.100524212T>C	(Likely) benign	1 lab	9f15b76ff1
14:75078580 LTBP2 G>T	14	75078580	75078580	G	T	LTBP2	c.68C>A	NM_000428.2	NP_000419.1:p.(Pro23Gln)	NC_000014.8:g.75078580G>T	VUS	1 lab	9f17db1185
1:8045030 PARK7 C>T	1	8045030	8045030	C	T	PARK7	c.486C>T	NM_007262.4	NP_009193.2:p.(Phe162=)	NC_000001.10:g.8045030C>T	(Likely) benign	1 lab	9f186cb33c
17:73612472 MYO15B G>A	17	73612472	73612472	G	A	MYO15B	c.6075G>A	NM_001309242.1	NP_001296171.1:p.(Glu2025=)	NC_000017.10:g.73612472G>A	(Likely) benign	1 lab	9f1c18eb89
7:128482861 FLNC C>T	7	128482861	128482861	C	T	FLNC	c.2403C>T	NM_001458.4	NP_001449.3:p.(Ile801=)	NC_000007.13:g.128482861C>T	(Likely) benign	1 lab	9f1e21b37e
13:25482142 CPAP A>G	13	25482142	25482142	A	G	CPAP	c.974+14T>C	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25482142A>G	(Likely) benign	1 lab	9f208cd86e
1:204966538 NFASC C>T	1	204966538	204966538	C	T	NFASC	c.3019+4C>T	NM_001005388.2	NP_001005388.2:p.?	NC_000001.10:g.204966538C>T	(Likely) benign	1 lab	9f251d9783
2:179432952 TTN G>A	2	179432952	179432952	G	A	TTN	c.77907C>T	NM_001267550.1	NP_001254479.1:p.(Asn25969=)	NC_000002.11:g.179432952G>A	(Likely) benign	1 lab	9f28470d66
17:39023009 KRT12 G>T	17	39023009	39023009	G	T	KRT12	c.430C>A	NM_000223.4	NP_000214.1:p.(Arg144=)	NC_000017.10:g.39023009G>T	(Likely) benign	1 lab	9f28ecf174
17:18030147 MYO15A C>T	17	18030147	18030147	C	T	MYO15A	c.3909C>T	NM_016239.3	NP_057323.3:p.(Leu1303=)	NC_000017.10:g.18030147C>T	(Likely) benign	1 lab	9f290902f4
8:100108606 VPS13B A>G	8	100108606	100108606	A	G	VPS13B	c.358A>G	NM_017890.4	NP_060360.3:p.(Ile120Val)	NC_000008.10:g.100108606A>G	(Likely) benign	1 lab	9f29172aab
10:81317810 SFTPA2 C>T	10	81317810	81317810	C	T	SFTPA2	c.398G>A	NM_001320814.1	NP_001307743.1:p.(Gly133Glu)	NC_000010.10:g.81317810C>T	VUS	1 lab	9f29acb755
15:80181436 MTHFS T>C	15	80181436	80181436	T	C	MTHFS	c.378A>G	NM_006441.3	NP_006432.1:p.(Thr126=)	NC_000015.9:g.80181436T>C	(Likely) benign	1 lab	9f2a3134c0
1:211652500 RD3 G>T	1	211652500	211652500	G	T	RD3	c.466C>A	NM_183059.2	NP_898882.1:p.(Arg156Ser)	NC_000001.10:g.211652500G>T	VUS	1 lab	9f2aabe5ea
20:52775555 CYP24A1 T>A	20	52775555	52775555	T	A	CYP24A1	c.1098A>T	NM_000782.4	NP_000773.2:p.(Pro366=)	NC_000020.10:g.52775555T>A	(Likely) benign	1 lab	9f2b81c3c0
6:33157179 COL11A2 C>T	6	33157179	33157179	C	T	COL11A2	c.150G>A	NM_080680.2	NP_542411.2:p.(Ala50=)	NC_000006.11:g.33157179C>T	(Likely) benign	1 lab	9f2bb9d957
7:5568284 ACTB C>T	7	5568284	5568284	C	T	ACTB	c.430G>A	NM_001101.3	NP_001092.1:p.(Ala144Thr)	NC_000007.13:g.5568284C>T	VUS	1 lab	9f2c837934
20:9459604 PLCB4 G>A	20	9459604	9459604	G	A	PLCB4	c.3532G>A	NM_001172646.1	NP_001166117.1:p.(Glu1178Lys)	NC_000020.10:g.9459604G>A	VUS	1 lab	9f2cafe5b1
16:81241231 MISSING A>G	16	81241231	81241231	A	G	MISSING				NC_000016.9:g.81241231A>G	VUS	1 lab	9f2d5991d9
X:153581829 FLNA G>A	X	153581829	153581829	G	A	FLNA	c.5861-4C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153581829G>A	(Likely) benign	1 lab	9f2d625f69
X:153697745 PLXNA3 C>T	X	153697745	153697745	C	T	PLXNA3	c.4618C>T	NM_017514.4	NP_059984.3:p.(Arg1540Cys)	NC_000023.10:g.153697745C>T	VUS	1 lab	9f2d6c9a48
19:12923888 RNASEH2A C>A	19	12923888	12923888	C	A	RNASEH2A	c.638-9C>A	NM_006397.2	NP_006388.2:p.?	NC_000019.9:g.12923888C>A	(Likely) benign	1 lab	9f2ddd7f46
2:178565848 PDE11A C>T	2	178565848	178565848	C	T	PDE11A	c.2244+1G>A	NM_016953.4	NP_058649.3:p.?	NC_000002.11:g.178565848C>T	(Likely) pathogenic	1 lab	9f2deb86ac
17:29585420 NF1 T>C	17	29585420	29585420	T	C	NF1	c.4169T>C	NM_000267.3	NP_000258.1:p.(Leu1390Pro)	NC_000017.10:g.29585420T>C	VUS	1 lab	9f30e8303d
14:68233164 ZFYVE26 C>T	14	68233164	68233164	C	T	ZFYVE26	c.5791G>A	NM_015346.3	NP_056161.2:p.(Ala1931Thr)	NC_000014.8:g.68233164C>T	VUS	1 lab	9f31db7f72
10:73553232 CDH23 G>A	10	73553232	73553232	G	A	CDH23	c.6547G>A	NM_022124.5	NP_071407.4:p.(Val2183Met)	NC_000010.10:g.73553232G>A	VUS	1 lab	9f3253ed18
5:140604497 PCDHB14 A>G	5	140604497	140604497	A	G	PCDHB14	c.1420A>G	NM_018934.3	NP_061757.1:p.(Ser474Gly)	NC_000005.9:g.140604497A>G	(Likely) benign	1 lab	9f33964226
8:22021059 SFTPC G>GGT	8	22021059	22021072	G	GGT	SFTPC	c.435_435+1insGT	NM_001172357.1	NP_001165828.1:p.?	NC_000008.10:g.22021071_22021072dup	VUS	1 lab	9f33f641f2
X:9859136 SHROOM2 G>A	X	9859136	9859136	G	A	SHROOM2	c.437G>A	NM_001649.3	NP_001640.1:p.(Arg146Gln)	NC_000023.10:g.9859136G>A	(Likely) benign	1 lab	9f36d9ee5b
1:3342323 PRDM16 C>T	1	3342323	3342323	C	T	PRDM16	c.3109+9C>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3342323C>T	(Likely) benign	1 lab	9f37703aa0
7:100224886 TFR2 C>T	7	100224886	100224886	C	T	TFR2	c.1995+1G>A	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100224886C>T	(Likely) pathogenic	1 lab	9f379f0dad
1:10709224 CASZ1 C>T	1	10709224	10709224	C	T	CASZ1	c.3061G>A	NM_001079843.3	NP_001073312.1:p.(Gly1021Ser)	NC_000001.10:g.10709224C>T	VUS	1 lab	9f381287bd
22:20378026 TMEM191B A>G	22	20378026	20378026	A	G	TMEM191B	c.179A>G	NM_001242313.1	NP_001229242.1:p.(Lys60Arg)	NC_000022.10:g.20378026A>G	VUS	1 lab	9f390b1df4
7:100636842 MUC12 T>C	7	100636842	100636842	T	C	MUC12	c.2998T>C	NM_001164462.1	NP_001157934.1:p.(Ser1000Pro)	NC_000007.13:g.100636842T>C	(Likely) benign	1 lab	9f39883248
21:47856948 PCNT C>T	21	47856948	47856948	C	T	PCNT	c.9053C>T	NM_006031.5	NP_006022.3:p.(Thr3018Met)	NC_000021.8:g.47856948C>T	VUS	1 lab	9f3a888fdb
9:35093548 PIGO G>A	9	35093548	35093548	G	A	PIGO	c.809C>T	NM_032634.3	NP_116023.2:p.(Thr270Ile)	NC_000009.11:g.35093548G>A	VUS	1 lab	9f3ae3d1ef
X:119070633 NKAP A>G	X	119070633	119070633	A	G	NKAP	c.480T>C	NM_024528.3	NP_078804.2:p.(His160=)	NC_000023.10:g.119070633A>G	(Likely) benign	1 lab	9f3b93daee
2:48018310 MSH6 T>TGTGA	2	48018310	48018314	T	TGTGA	MSH6	c.457+51_457+52insAGTG	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018313_48018314insAGTG	(Likely) benign	1 lab	9f3e2fcfb5
19:12917595 RNASEH2A G>A	19	12917595	12917595	G	A	RNASEH2A	c.108G>A	NM_006397.2	NP_006388.2:p.(Ala36=)	NC_000019.9:g.12917595G>A	(Likely) benign	1 lab	9f3f7e5eed
9:135796838 TSC1 T>C	9	135796838	135796838	T	C	TSC1	c.664-15A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135796838T>C	(Likely) pathogenic	1 lab	9f403b2b96
12:2763054 CACNA1C G>A	12	2763054	2763054	G	A	CACNA1C	c.4272G>A	NM_199460.3	NP_955630.3:p.(Val1424=)	NC_000012.11:g.2763054G>A	(Likely) benign	1 lab	9f412d337a
10:112541418 RBM20 G>C	10	112541418	112541418	G	C	RBM20	c.1051G>C	NM_001134363.1	NP_001127835.1:p.(Asp351His)	NC_000010.10:g.112541418G>C	VUS	1 lab	9f43189957
15:43910201 STRC G>T	15	43910201	43910201	G	T	STRC	c.418C>A	NM_153700.2	NP_714544.1:p.(Leu140Ile)	NC_000015.9:g.43910201G>T	VUS	1 lab	9f43409ba1
17:29508699 NF1 T>C	17	29508699	29508699	T	C	NF1	c.655-29T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508699T>C	(Likely) benign	1 lab	9f43fede27
1:183094538 LAMC1 A>G	1	183094538	183094538	A	G	LAMC1	c.2654A>G	NM_002293.3	NP_002284.3:p.(Asn885Ser)	NC_000001.10:g.183094538A>G	(Likely) benign	1 lab	9f456118ac
11:17530898 USH1C A>G	11	17530898	17530898	A	G	USH1C	c.2013+5T>C	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17530898A>G	(Likely) benign	1 lab	9f45a8b660
21:46923934 COL18A1 C>T	21	46923934	46923934	C	T	COL18A1	c.2693C>T	NM_130445.2	NP_569712.2:p.(Pro898Leu)	NC_000021.8:g.46923934C>T	VUS	1 lab	9f46fa3e3a
1:915388 PERM1 G>C	1	915388	915388	G	C	PERM1	c.1022C>G	NM_001291366.1	NP_001278295.1:p.(Thr341Arg)	NC_000001.10:g.915388G>C	(Likely) benign	1 lab	9f473a11fc
X:140996387 MAGEC1 G>A	X	140996387	140996387	G	A	MAGEC1	c.3197G>A	NM_005462.4	NP_005453.2:p.(Arg1066His)	NC_000023.10:g.140996387G>A	VUS	1 lab	9f4aab0060
5:90040856 ADGRV1 C>T	5	90040856	90040856	C	T	ADGRV1	c.10550-7C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90040856C>T	(Likely) benign	1 lab	9f4b61def8
16:2159507 PKD1 G>A	16	2159507	2159507	G	A	PKD1	c.5661C>T	NM_001009944.2	NP_001009944.2:p.(Ile1887=)	NC_000016.9:g.2159507G>A	(Likely) benign	1 lab	9f4c556d01
16:88496690 ZNF469 G>A	16	88496690	88496690	G	A	ZNF469				NC_000016.9:g.88496690G>A	(Likely) benign	1 lab	9f4cc0f48a
3:159976432 IFT80 G>A	3	159976432	159976432	G	A	IFT80	c.1813-9C>T	NM_001190241.1	NP_001177170.1:p.?	NC_000003.11:g.159976432G>A	(Likely) benign	1 lab	9f4d23f67c
X:100746410 ARMCX4 T>C	X	100746410	100746410	T	C	ARMCX4	c.2834T>C	NM_001256155.2	NP_001243084.2:p.(Met945Thr)	NC_000023.10:g.100746410T>C	(Likely) benign	1 lab	9f4d8bdc65
14:68352579 RAD51B C>T	14	68352579	68352579	C	T	RAD51B	c.453-7C>T	NM_001321814.1	NP_001308743.1:p.?	NC_000014.8:g.68352579C>T	(Likely) benign	1 lab	9f4f0c809b
10:74658593 OIT3 A>G	10	74658593	74658593	A	G	OIT3	c.233A>G	NM_152635.2	NP_689848.1:p.(Asn78Ser)	NC_000010.10:g.74658593A>G	VUS	1 lab	9f502984fa
6:144743040 UTRN G>A	6	144743040	144743040	G	A	UTRN	c.168G>A	NM_007124.2	NP_009055.2:p.(Met56Ile)	NC_000006.11:g.144743040G>A	(Likely) benign	1 lab	9f504d4f1c
X:2873544 ARSL C>T	X	2873544	2873544	C	T	ARSL	c.295G>A	NM_001282628.1	NP_001269557.1:p.(Val99Met)	NC_000023.10:g.2873544C>T	(Likely) benign	1 lab	9f51675f1d
10:61932665 ANK3 A>G	10	61932665	61932665	A	G	ANK3	c.2375T>C	NM_020987.5	NP_066267.2:p.(Leu792Pro)	NC_000010.10:g.61932665A>G	VUS	1 lab	9f542679be
9:968114 DMRT1 C>G	9	968114	968114	C	G	DMRT1	c.1097C>G	NM_021951.2	NP_068770.2:p.(Thr366Ser)	NC_000009.11:g.968114C>G	(Likely) benign	1 lab	9f56ce429f
8:145583300 SLC52A2 T>TA	8	145583300	145583301	T	TA	SLC52A2	c.149dup	NM_024531.4	NP_078807.1:p.(Tyr50Ter)	NC_000008.10:g.145583301dup	(Likely) pathogenic	1 lab	9f590720ff
14:58926740 KIAA0586 A>G	14	58926740	58926740	A	G	KIAA0586	c.1836A>G	NM_001329943.2	NP_001316872.1:p.(Leu612=)	NC_000014.8:g.58926740A>G	(Likely) benign	1 lab	9f5971a00c
2:228552163 SLC19A3 C>T	2	228552163	228552163	C	T	SLC19A3	c.1441G>A	NM_025243.3	NP_079519.1:p.(Val481Met)	NC_000002.11:g.228552163C>T	(Likely) benign	1 lab	9f5a231b1d
17:78090896 GAA C>T	17	78090896	78090896	C	T	GAA	c.2319C>T	NM_000152.3	NP_000143.2:p.(Tyr773=)	NC_000017.10:g.78090896C>T	(Likely) benign	1 lab	9f5b00b065
6:45870934 CLIC5 C>T	6	45870934	45870934	C	T	CLIC5	c.1124G>A	NM_001114086.1	NP_001107558.1:p.(Arg375Gln)	NC_000006.11:g.45870934C>T	VUS	1 lab	9f5ca8b3e3
3:184557520 VPS8 A>C	3	184557520	184557520	A	C	VPS8	c.515A>C	NM_001349295.1	NP_001336224.1:p.(His172Pro)	NC_000003.11:g.184557520A>C	VUS	1 lab	9f5d31f4a6
X:149101960 EOLA2 G>C	X	149101960	149101960	G	C	EOLA2	c.133C>G	NM_001013845.2	NP_001013867.1:p.(His45Asp)	NC_000023.10:g.149101960G>C	(Likely) benign	1 lab	9f5ee7539b
X:19725010 SH3KBP1 C>T	X	19725010	19725010	C	T	SH3KBP1	c.379G>A	NM_001353891.1	NP_001340820.1:p.(Val127Met)	NC_000023.10:g.19725010C>T	VUS	1 lab	9f5f9e2619
10:69366667 CTNNA3 A>G	10	69366667	69366667	A	G	CTNNA3	c.240T>C	NM_013266.3	NP_037398.2:p.(Ala80=)	NC_000010.10:g.69366667A>G	(Likely) benign	1 lab	9f5faa2439
9:135778186 TSC1 C>T	9	135778186	135778186	C	T	TSC1	c.2209-12G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135778186C>T	VUS	1 lab	9f615bf763
10:73492027 CDH23 G>A	10	73492027	73492027	G	A	CDH23	c.3999G>A	NM_022124.5	NP_071407.4:p.(Val1333=)	NC_000010.10:g.73492027G>A	(Likely) benign	1 lab	9f6252ea29
16:2114326 TSC2 TAA>T	16	2114326	2114329	TAA	T	TSC2	c.1499_1500del	NM_000548.5	NP_000539.2:p.(Lys500ArgfsTer88)	NC_000016.9:g.2114328_2114329del	(Likely) pathogenic	1 lab	9f62c2c79c
1:215914883 USH2A G>A	1	215914883	215914883	G	A	USH2A	c.11549-4C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215914883G>A	(Likely) benign	1 lab	9f63645c29
15:48760155 FBN1 A>G	15	48760155	48760155	A	G	FBN1	c.4727T>C	NM_000138.4	NP_000129.3:p.(Met1576Thr)	NC_000015.9:g.48760155A>G	(Likely) benign	1 lab	9f637303a4
6:111695079 REV3L C>T	6	111695079	111695079	C	T	REV3L	c.4245G>A	NM_001286431.1	NP_001273360.1:p.(Pro1415=)	NC_000006.11:g.111695079C>T	(Likely) benign	1 lab	9f63ab4a7e
9:34371488 MYORG A>C	9	34371488	34371488	A	C	MYORG	c.1454T>G	NM_020702.5	NP_065753.2:p.(Val485Gly)	NC_000009.11:g.34371488A>C	(Likely) benign	1 lab	9f674e4a4f
17:17701461 RAI1 G>A	17	17701461	17701461	G	A	RAI1	c.5199G>A	NM_030665.3	NP_109590.3:p.(Ser1733=)	NC_000017.10:g.17701461G>A	(Likely) benign	1 lab	9f68043a89
22:50902791 SBF1 G>A	22	50902791	50902791	G	A	SBF1	c.1716C>T	NM_002972.3	NP_002963.2:p.(Tyr572=)	NC_000022.10:g.50902791G>A	(Likely) benign	1 lab	9f6932b1d6
1:235973833 LYST A>G	1	235973833	235973833	A	G	LYST	c.285T>C	NM_001301365.1	NP_001288294.1:p.(Asp95=)	NC_000001.10:g.235973833A>G	(Likely) benign	1 lab	9f6a635a51
2:111413500 BUB1 C>A	2	111413500	111413500	C	A	BUB1	c.1699-7G>T	NM_004336.4	NP_004327.1:p.?	NC_000002.11:g.111413500C>A	(Likely) benign	1 lab	9f6a800339
X:130411158 IGSF1 A>G	X	130411158	130411158	A	G	IGSF1	c.2378T>C	NM_001170961.1	NP_001164432.1:p.(Val793Ala)	NC_000023.10:g.130411158A>G	VUS	1 lab	9f6caec65c
19:47570024 ZC3H4 C>T	19	47570024	47570024	C	T	ZC3H4	c.3501G>A	NM_015168.1	NP_055983.1:p.(Thr1167=)	NC_000019.9:g.47570024C>T	VUS	1 lab	9f6d344c9b
3:189692422 P3H2 C>T	3	189692422	189692422	C	T	P3H2	c.1377G>A	NM_018192.4	NP_060662.2:p.(Leu459=)	NC_000003.11:g.189692422C>T	(Likely) benign	1 lab	9f6e4db344
1:110173771 AMPD2 A>G	1	110173771	110173771	A	G	AMPD2	c.2637A>G	NM_001257360.1	NP_001244289.1:p.(Gln879=)	NC_000001.10:g.110173771A>G	(Likely) benign	1 lab	9f6ef9432f
14:105413972 AHNAK2 C>T	14	105413972	105413972	C	T	AHNAK2	c.7816G>A	NM_138420.3	NP_612429.2:p.(Asp2606Asn)	NC_000014.8:g.105413972C>T	(Likely) benign	1 lab	9f732ea6de
5:39316123 C9 G>A	5	39316123	39316123	G	A	C9	c.624C>T	NM_001737.3	NP_001728.1:p.(Gly208=)	NC_000005.9:g.39316123G>A	VUS	1 lab	9f73d636ff
17:29654784 NF1 C>T	17	29654784	29654784	C	T	NF1	c.5473C>T	NM_000267.3	NP_000258.1:p.(Arg1825Trp)	NC_000017.10:g.29654784C>T	VUS	1 lab	9f7814e239
14:65239399 SPTB G>A	14	65239399	65239399	G	A	SPTB	c.5452C>T	NM_001024858.3	NP_001020029.1:p.(Arg1818Cys)	NC_000014.8:g.65239399G>A	VUS	1 lab	9f7877f89e
19:1627382 TCF3 G>A	19	1627382	1627382	G	A	TCF3	c.342C>T	NM_003200.5	NP_003191.1:p.(Asp114=)	NC_000019.9:g.1627382G>A	(Likely) benign	1 lab	9f7cb61c44
14:23862543 MYH6 C>G	14	23862543	23862543	C	G	MYH6	c.3105+8G>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23862543C>G	(Likely) benign	1 lab	9f7e2a2e2d
X:48925324 CCDC120 C>T	X	48925324	48925324	C	T	CCDC120				NC_000023.10:g.48925324C>T	(Likely) benign	1 lab	9f7e77dd24
16:2127614 TSC2 AC>A	16	2127614	2127620	AC	A	TSC2	c.2859del	NM_000548.5	NP_000539.2:p.(Lys954AsnfsTer4)	NC_000016.9:g.2127620del	(Likely) pathogenic	1 lab	9f7ff0b44a
4:186427791 PDLIM3 C>T	4	186427791	186427791	C	T	PDLIM3	c.678G>A	NM_014476.5	NP_055291.2:p.(Ser226=)	NC_000004.11:g.186427791C>T	(Likely) benign	1 lab	9f807ff05f
16:2104355 TSC2 C>G	16	2104355	2104355	C	G	TSC2	c.395C>G	NM_000548.3	NP_000539.2:p.(Ser132Cys)	NC_000016.9:g.2104355C>G	(Likely) benign	1 lab	9f808d0bd4
17:29554565 NF1 TG>T	17	29554565	29554568	TG	T	NF1	c.2353del	NM_001042492.3	NP_001035957.1:p.(Glu785AsnfsTer6)	NC_000017.10:g.29554568del	(Likely) pathogenic	1 lab	9f80a2a08b
19:44890747 ZNF285 A>G	19	44890747	44890747	A	G	ZNF285	c.1195T>C	NM_001291490.1	NP_001278419.1:p.(Tyr399His)	NC_000019.9:g.44890747A>G	(Likely) benign	1 lab	9f80a49ebd
15:41388392 INO80 T>C	15	41388392	41388392	T	C	INO80	c.117A>G	NM_017553.3	NP_060023.1:p.(Ser39=)	NC_000015.9:g.41388392T>C	(Likely) benign	1 lab	9f80cbe1bd
10:112724356 SHOC2 G>T	10	112724356	112724356	G	T	SHOC2	c.240G>T	NM_001324337.1	NP_001311266.1:p.(Gly80=)	NC_000010.10:g.112724356G>T	(Likely) benign	1 lab	9f83c86548
11:66478048 SPTBN2 C>T	11	66478048	66478048	C	T	SPTBN2	c.1073+5G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66478048C>T	VUS	1 lab	9f8978297b
1:243456702 SDCCAG8 A>G	1	243456702	243456702	A	G	SDCCAG8	c.677A>G	NM_001350248.1	NP_001337177.1:p.(Asn226Ser)	NC_000001.10:g.243456702A>G	VUS	1 lab	9f89d29aaa
2:202131302 CASP8 G>A	2	202131302	202131302	G	A	CASP8	c.270G>A	NM_001080125.1	NP_001073594.1:p.(Pro90=)	NC_000002.11:g.202131302G>A	(Likely) benign	1 lab	9f8a9bc3b1
17:76113639 TMC6 G>A	17	76113639	76113639	G	A	TMC6	c.2108C>T	NM_001127198.2	NP_001120670.1:p.(Ala703Val)	NC_000017.10:g.76113639G>A	(Likely) benign	1 lab	9f8aa4bc50
8:19363070 CSGALNACT1 C>T	8	19363070	19363070	C	T	CSGALNACT1	c.276G>A	NM_001354491.1	NP_001341420.1:p.(Gln92=)	NC_000008.10:g.19363070C>T	(Likely) benign	1 lab	9f8e536e5f
1:24122666 GALE T>C	1	24122666	24122666	T	C	GALE	c.963A>G	NM_000403.3	NP_000394.2:p.(Thr321=)	NC_000001.10:g.24122666T>C	(Likely) benign	1 lab	9f8e5fe7e6
13:110833712 COL4A1 A>G	13	110833712	110833712	A	G	COL4A1	c.2120T>C	NM_001845.5	NP_001836.3:p.(Met707Thr)	NC_000013.10:g.110833712A>G	(Likely) benign	1 lab	9f8f07d381
2:217297448 SMARCAL1 A>G	2	217297448	217297448	A	G	SMARCAL1	c.1342A>G	NM_014140.3	NP_054859.2:p.(Ile448Val)	NC_000002.11:g.217297448A>G	VUS	1 lab	9f8f2883b1
8:100396545 VPS13B GGT>G	8	100396545	100396547	GGT	G	VPS13B	c.2934+1_2934+2del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100396546_100396547del	(Likely) pathogenic	1 lab	9f8ff96ede
13:25480084 CPAP G>A	13	25480084	25480084	G	A	CPAP	c.2092C>T	NM_018451.4	NP_060921.3:p.(Pro698Ser)	NC_000013.10:g.25480084G>A	VUS	1 lab	9f9027eff5
16:30976101 SETD1A G>A	16	30976101	30976101	G	A	SETD1A	c.1038G>A	NM_014712.2	NP_055527.1:p.(Ser346=)	NC_000016.9:g.30976101G>A	(Likely) benign	1 lab	9f91380268
19:50216842 CPT1C A>G	19	50216842	50216842	A	G	CPT1C	c.2392A>G	NM_001199752.2	NP_001186681.1:p.(Met798Val)	NC_000019.9:g.50216842A>G	(Likely) benign	1 lab	9f93a74e57
X:39932388 BCOR A>T	X	39932388	39932388	A	T	BCOR	c.2211T>A	NM_001123385.1	NP_001116857.1:p.(Ile737=)	NC_000023.10:g.39932388A>T	(Likely) benign	1 lab	9f93f27271
2:228155573 COL4A3 G>T	2	228155573	228155573	G	T	COL4A3	c.3181G>T	NM_000091.4	NP_000082.2:p.(Gly1061Cys)	NC_000002.11:g.228155573G>T	VUS	1 lab	9f94690ad6
3:52412764 DNAH1 G>A	3	52412764	52412764	G	A	DNAH1	c.7345G>A	NM_015512.4	NP_056327.4:p.(Gly2449Ser)	NC_000003.11:g.52412764G>A	VUS	1 lab	9f95162ca3
19:14029985 CC2D1A G>A	19	14029985	14029985	G	A	CC2D1A	c.1192G>A	NM_017721.4	NP_060191.3:p.(Val398Met)	NC_000019.9:g.14029985G>A	VUS	1 lab	9f9535c351
2:44176769 LRPPRC A>AC	2	44176769	44176770	A	AC	LRPPRC	c.1706dup	NM_133259.3	NP_573566.2:p.(Tyr570LeufsTer18)	NC_000002.11:g.44176770dup	VUS	1 lab	9f9551287e
14:81297562 CEP128 T>C	14	81297562	81297562	T	C	CEP128	c.1134A>G	NM_152446.5	NP_689659.2:p.(Ala378=)	NC_000014.8:g.81297562T>C	(Likely) benign	1 lab	9f96f50b8a
22:18273546 MICAL3 G>A	22	18273546	18273546	G	A	MICAL3	c.5961C>T	NM_015241.3	NP_056056.2:p.(Asp1987=)	NC_000022.10:g.18273546G>A	(Likely) benign	1 lab	9f973a9379
18:6985541 LAMA1 T>C	18	6985541	6985541	T	C	LAMA1	c.5481A>G	NM_005559.3	NP_005550.2:p.(Val1827=)	NC_000018.9:g.6985541T>C	(Likely) benign	1 lab	9f97655a32
20:42747190 JPH2 C>A	20	42747190	42747190	C	A	JPH2	c.1243G>T	NM_020433.4	NP_065166.2:p.(Ala415Ser)	NC_000020.10:g.42747190C>A	VUS	1 lab	9f9bcc929e
14:50101289 DNAAF2 C>T	14	50101289	50101289	C	T	DNAAF2	c.579G>A	NM_018139.2	NP_060609.2:p.(Lys193=)	NC_000014.8:g.50101289C>T	(Likely) benign	1 lab	9f9dc66ace
11:66334711 CTSF C>T	11	66334711	66334711	C	T	CTSF	c.607+6G>A	NM_003793.3	NP_003784.2:p.?	NC_000011.9:g.66334711C>T	(Likely) benign	1 lab	9f9ead7935
16:70925549 HYDIN G>A	16	70925549	70925549	G	A	HYDIN	c.9656C>T	NM_001270974.2	NP_001257903.1:p.(Ala3219Val)	NC_000016.9:g.70925549G>A	(Likely) benign	1 lab	9f9f463c62
X:153689036 PLXNA3 C>T	X	153689036	153689036	C	T	PLXNA3	c.513C>T	NM_017514.4	NP_059984.3:p.(Val171=)	NC_000023.10:g.153689036C>T	(Likely) benign	1 lab	9fa15684d6
18:7050797 LAMA1 G>A	18	7050797	7050797	G	A	LAMA1	c.484C>T	NM_005559.3	NP_005550.2:p.(Arg162Cys)	NC_000018.9:g.7050797G>A	VUS	1 lab	9fa3bf4d18
8:140631213 KCNK9 T>C	8	140631213	140631213	T	C	KCNK9	c.413A>G	NM_001282534.1	NP_001269463.1:p.(Tyr138Cys)	NC_000008.10:g.140631213T>C	VUS	1 lab	9fa4ccdfd0
22:38120527 TRIOBP G>A	22	38120527	38120527	G	A	TRIOBP	c.1964G>A	NM_001039141.2	NP_001034230.1:p.(Arg655Gln)	NC_000022.10:g.38120527G>A	(Likely) benign	1 lab	9fa63e89a4
6:167360211 RNASET2 C>T	6	167360211	167360211	C	T	RNASET2				NC_000006.11:g.167360211C>T	(Likely) benign	1 lab	a09dbb9866
17:7606639 WRAP53 A>G	17	7606639	7606639	A	G	WRAP53	c.1482A>G	NM_018081.2	NP_060551.2:p.(Glu494=)	NC_000017.10:g.7606639A>G	(Likely) benign	1 lab	9fa64fcfb2
4:88533641 DSPP C>T	4	88533641	88533641	C	T	DSPP	c.303C>T	NM_014208.3	NP_055023.2:p.(Asn101=)	NC_000004.11:g.88533641C>T	(Likely) benign	1 lab	9fa6d3d70c
18:44068952 LOXHD1 TCA>T	18	44068952	44068956	TCA	T	LOXHD1	c.6030_6031del	NM_001384474.1	NP_001371403.1:p.(Cys2010Ter)	NC_000018.9:g.44068955_44068956del	(Likely) pathogenic	1 lab	9fa6f091d2
6:110012680 FIG4 G>A	6	110012680	110012680	G	A	FIG4	c.42G>A	NM_014845.5	NP_055660.1:p.(Lys14=)	NC_000006.11:g.110012680G>A	(Likely) benign	1 lab	9fa7bc6e8f
1:233398867 PCNX2 C>A	1	233398867	233398867	C	A	PCNX2	c.196G>T	NM_014801.3	NP_055616.3:p.(Ala66Ser)	NC_000001.10:g.233398867C>A	VUS	1 lab	9fa886848e
4:9245984 USP17L17 C>T	4	9245984	9245984	C	T	USP17L17	c.380C>T	NM_001256857.1	NP_001243786.1:p.(Thr127Met)	NC_000004.11:g.9245984C>T	VUS	1 lab	9fa896a418
18:34339106 FHOD3 T>C	18	34339106	34339106	T	C	FHOD3	c.4449+2T>C	NM_001281740.2	NP_001268669.1:p.?	NC_000018.9:g.34339106T>C	VUS	1 lab	9fa8d0d54f
14:64430728 SYNE2 A>G	14	64430728	64430728	A	G	SYNE2	c.990+10A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64430728A>G	(Likely) benign	1 lab	9faa128a64
2:15417189 NBAS G>A	2	15417189	15417189	G	A	NBAS	c.5175C>T	NM_015909.3	NP_056993.2:p.(Asp1725=)	NC_000002.11:g.15417189G>A	(Likely) benign	1 lab	9faa56381f
17:2573652 PAFAH1B1 C>T	17	2573652	2573652	C	T	PAFAH1B1	c.568+27C>T	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2573652C>T	(Likely) benign	1 lab	9faaa70f60
17:29586054 NF1 T>C	17	29586054	29586054	T	C	NF1	c.4274T>C	NM_000267.3	NP_000258.1:p.(Leu1425Pro)	NC_000017.10:g.29586054T>C	VUS	1 lab	9fabd50269
7:150933504 CHPF2 A>G	7	150933504	150933504	A	G	CHPF2	c.839A>G	NM_019015.2	NP_061888.1:p.(Tyr280Cys)	NC_000007.13:g.150933504A>G	VUS	1 lab	9fac2668c8
15:23892212 MAGEL2 A>C	15	23892212	23892212	A	C	MAGEL2	c.678T>G	NM_019066.4	NP_061939.3:p.(Gly226=)	NC_000015.9:g.23892212A>C	(Likely) benign	1 lab	9fad1e9172
5:180661449 TRIM41 G>A	5	180661449	180661449	G	A	TRIM41	c.1567G>A	NM_033549.4	NP_291027.3:p.(Gly523Arg)	NC_000005.9:g.180661449G>A	VUS	1 lab	9fad5e47e5
16:2141105 PKD1 C>A	16	2141105	2141105	C	A	PKD1	c.11783G>T	NM_001009944.2	NP_001009944.2:p.(Trp3928Leu)	NC_000016.9:g.2141105C>A	(Likely) benign	1 lab	9faf296a14
5:60822108 ZSWIM6 C>T	5	60822108	60822108	C	T	ZSWIM6	c.1722C>T	NM_020928.1	NP_065979.1:p.(Asp574=)	NC_000005.9:g.60822108C>T	(Likely) benign	1 lab	9faf7d410b
11:47358912 MYBPC3 G>A	11	47358912	47358912	G	A	MYBPC3	c.2602+30C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358912G>A	(Likely) benign	1 lab	9fb07264e0
1:224592197 WDR26 C>G	1	224592197	224592197	C	G	WDR26	c.1234G>C	NM_025160.6	NP_079436.4:p.(Asp412His)	NC_000001.10:g.224592197C>G	VUS	1 lab	9fb0981fc1
3:49728870 RNF123 A>G	3	49728870	49728870	A	G	RNF123	c.95A>G	NM_022064.4	NP_071347.2:p.(Glu32Gly)	NC_000003.11:g.49728870A>G	(Likely) benign	1 lab	9fb121aa7a
2:98999895 CNGA3 C>G	2	98999895	98999895	C	G	CNGA3	c.440C>G	NM_001298.2	NP_001289.1:p.(Thr147Arg)	NC_000002.11:g.98999895C>G	(Likely) benign	1 lab	9fb2d20c0b
5:176520287 FGFR4 G>C	5	176520287	176520287	G	C	FGFR4	c.1206G>C	NM_213647.2	NP_998812.1:p.(Pro402=)	NC_000005.9:g.176520287G>C	(Likely) benign	1 lab	9fb3e7ba35
19:2129115 AP3D1 G>A	19	2129115	2129115	G	A	AP3D1	c.780C>T	NM_001261826.3	NP_001248755.1:p.(Ile260=)	NC_000019.9:g.2129115G>A	(Likely) benign	1 lab	9fb44e9707
18:5891100 TMEM200C G>C	18	5891100	5891100	G	C	TMEM200C	c.963C>G	NM_001080209.2	NP_001073678.1:p.(Ala321=)	NC_000018.9:g.5891100G>C	(Likely) benign	1 lab	9fb49b0f54
15:78403581 CIB2 C>T	15	78403581	78403581	C	T	CIB2	c.124G>A	NM_006383.3	NP_006374.1:p.(Val42Ile)	NC_000015.9:g.78403581C>T	VUS	1 lab	9fb4ca0def
4:88537150 DSPP CGATAGCAGT>C	4	88537150	88537161	CGATAGCAGT	C	DSPP	c.3339_3347del	NM_014208.3	NP_055023.2:p.(Asp1119_Ser1121del)	NC_000004.11:g.88537153_88537161del	(Likely) benign	1 lab	9fb780b0a5
9:36223427 GNE T>C	9	36223427	36223427	T	C	GNE	c.1447A>G	NM_001128227.2	NP_001121699.1:p.(Met483Val)	NC_000009.11:g.36223427T>C	VUS	1 lab	9fb97fa455
15:66996287 SMAD6 C>G	15	66996287	66996287	C	G	SMAD6	c.691C>G	NM_005585.4	NP_005576.3:p.(Arg231Gly)	NC_000015.9:g.66996287C>G	VUS	1 lab	9fbc2900fc
X:34149623 FAM47A G>A	X	34149623	34149623	G	A	FAM47A	c.773C>T	NM_203408.3	NP_981953.2:p.(Ser258Phe)	NC_000023.10:g.34149623G>A	VUS	1 lab	9fbd7b9a4f
19:17086967 MISSING C>T	19	17086967	17086967	C	T	MISSING				NC_000019.9:g.17086967C>T	(Likely) benign	1 lab	fd016a2b34
10:88441415 LDB3 G>C	10	88441415	88441415	G	C	LDB3	c.544G>C	NM_001171610.1	NP_001165081.1:p.(Gly182Arg)	NC_000010.10:g.88441415G>C	(Likely) benign	1 lab	9fbf89ed8b
7:75609689 POR C>T	7	75609689	75609689	C	T	POR	c.399C>T	NM_000941.2	NP_000932.3:p.(Asn133=)	NC_000007.13:g.75609689C>T	(Likely) benign	1 lab	9fc1b23aa2
5:16483469 RETREG1 G>A	5	16483469	16483469	G	A	RETREG1	c.571C>T	NM_001034850.2	NP_001030022.1:p.(Gln191Ter)	NC_000005.9:g.16483469G>A	VUS	1 lab	9fc21b080b
2:166223800 SCN2A G>A	2	166223800	166223800	G	A	SCN2A	c.3594G>A	NM_021007.2	NP_066287.2:p.(Arg1198=)	NC_000002.11:g.166223800G>A	(Likely) benign	1 lab	9fc483228b
17:78086444 GAA C>T	17	78086444	78086444	C	T	GAA	c.1822C>T	NM_000152.3	NP_000143.2:p.(Arg608Ter)	NC_000017.10:g.78086444C>T	(Likely) pathogenic	1 lab	9fc6559b4b
19:38673162 SIPA1L3 C>T	19	38673162	38673162	C	T	SIPA1L3	c.4212C>T	NM_015073.2	NP_055888.1:p.(Asp1404=)	NC_000019.9:g.38673162C>T	(Likely) benign	1 lab	9fc73976d3
4:126373543 FAT4 T>C	4	126373543	126373543	T	C	FAT4	c.11372T>C	NM_024582.4	NP_078858.4:p.(Leu3791Pro)	NC_000004.11:g.126373543T>C	VUS	1 lab	9fc7abeab2
12:133357422 GOLGA3 C>T	12	133357422	133357422	C	T	GOLGA3	c.3544G>A	NM_005895.3	NP_005886.2:p.(Glu1182Lys)	NC_000012.11:g.133357422C>T	VUS	1 lab	9fc965ba55
3:184049144 EIF4G1 G>A	3	184049144	184049144	G	A	EIF4G1	c.4255G>A	NM_182917.4	NP_886553.3:p.(Ala1419Thr)	NC_000003.11:g.184049144G>A	(Likely) benign	1 lab	9fc99996b0
20:3210266 SLC4A11 G>A	20	3210266	3210266	G	A	SLC4A11	c.1775C>T	NM_001174090.1	NP_001167561.1:p.(Ser592Leu)	NC_000020.10:g.3210266G>A	VUS	1 lab	9fcadec1ed
7:48313381 ABCA13 G>A	7	48313381	48313381	G	A	ABCA13	c.4118G>A	NM_152701.4	NP_689914.3:p.(Arg1373His)	NC_000007.13:g.48313381G>A	(Likely) benign	1 lab	9fcae0456d
X:154444718 VBP1 G>A	X	154444718	154444718	G	A	VBP1	c.67G>A	NM_001303543.1	NP_001290472.1:p.(Gly23Ser)	NC_000023.10:g.154444718G>A	VUS	1 lab	9fcb4a787a
3:111797598 TMPRSS7 G>C	3	111797598	111797598	G	C	TMPRSS7	c.1856G>C	NM_001042575.2	NP_001036040.2:p.(Gly619Ala)	NC_000003.11:g.111797598G>C	(Likely) benign	1 lab	9fcbf2b3f9
2:170063446 LRP2 G>A	2	170063446	170063446	G	A	LRP2	c.6784C>T	NM_004525.3	NP_004516.2:p.(Arg2262Cys)	NC_000002.11:g.170063446G>A	VUS	1 lab	9fcca9bdb0
12:124220055 ATP6V0A2 T>C	12	124220055	124220055	T	C	ATP6V0A2	c.732-23T>C	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124220055T>C	(Likely) benign	1 lab	9fcd3cf959
X:153594435 FLNA GC>G	X	153594435	153594437	GC	G	FLNA	c.1385del	NM_001110556.2	NP_001104026.1:p.(Gly462AlafsTer36)	NC_000023.10:g.153594437del	(Likely) pathogenic	1 lab	9fcd5711b8
X:106846102 FRMPD3 C>T	X	106846102	106846102	C	T	FRMPD3	c.4932C>T	NM_032428.2	NP_115804.1:p.(Ser1644=)	NC_000023.10:g.106846102C>T	(Likely) benign	1 lab	9fcdd7d0a8
16:88494617 ZNF469 A>C	16	88494617	88494617	A	C	ZNF469				NC_000016.9:g.88494617A>C	VUS	1 lab	9fce2458a1
2:56097954 EFEMP1 T>C	2	56097954	56097954	T	C	EFEMP1	c.1221A>G	NM_001039348.2	NP_001034437.1:p.(Pro407=)	NC_000002.11:g.56097954T>C	(Likely) benign	1 lab	9fcfa1e0db
3:170216583 SLC7A14 A>G	3	170216583	170216583	A	G	SLC7A14	c.632T>C	NM_020949.2	NP_066000.2:p.(Ile211Thr)	NC_000003.11:g.170216583A>G	(Likely) benign	1 lab	9fcfa260b7
5:140517183 PCDHB5 C>A	5	140517183	140517183	C	A	PCDHB5	c.2167C>A	NM_015669.4	NP_056484.2:p.(Arg723Ser)	NC_000005.9:g.140517183C>A	(Likely) benign	1 lab	9fd0709c88
11:95583031 MTMR2 A>ATC	11	95583031	95583033	A	ATC	MTMR2	c.589-6_589-5insGA	NM_001243571.1	NP_001230500.1:p.?	NC_000011.9:g.95583032_95583033insCT	VUS	1 lab	9fd181e31d
7:130040589 CEP41 A>G	7	130040589	130040589	A	G	CEP41	c.716T>C	NM_018718.2	NP_061188.1:p.(Met239Thr)	NC_000007.13:g.130040589A>G	VUS	1 lab	9fd4dc05ab
X:63411034 AMER1 C>T	X	63411034	63411034	C	T	AMER1	c.2133G>A	NM_152424.4	NP_689637.3:p.(Lys711=)	NC_000023.10:g.63411034C>T	(Likely) benign	1 lab	9fd5abafe6
17:37627188 CDK12 C>T	17	37627188	37627188	C	T	CDK12	c.1103C>T	NM_016507.3	NP_057591.2:p.(Ser368Phe)	NC_000017.10:g.37627188C>T	VUS	1 lab	9fd6e27e06
1:39916890 MACF1 G>C	1	39916890	39916890	G	C	MACF1	c.14241+7G>C	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39916890G>C	(Likely) benign	1 lab	9fd704a9ea
15:57555477 TCF12 T>C	15	57555477	57555477	T	C	TCF12	c.1571+5T>C	NM_001322156.1	NP_001309085.1:p.?	NC_000015.9:g.57555477T>C	(Likely) benign	1 lab	9fda46be42
17:78184314 SGSH G>A	17	78184314	78184314	G	A	SGSH	c.1446C>T	NM_000199.4	NP_000190.1:p.(Ala482=)	NC_000017.10:g.78184314G>A	(Likely) benign	1 lab	9fdeeadd6e
9:123201958 CDK5RAP2 C>T	9	123201958	123201958	C	T	CDK5RAP2	c.3441G>A	NM_018249.5	NP_060719.4:p.(Leu1147=)	NC_000009.11:g.123201958C>T	(Likely) benign	1 lab	9fdf19e835
16:88782645 PIEZO1 T>TG	16	88782645	88782650	T	TG	PIEZO1	c.7089dup	NM_001142864.4	NP_001136336.2:p.(Asn2364GlnfsTer15)	NC_000016.9:g.88782650dup	(Likely) pathogenic	1 lab	9fdf9c6402
8:145741503 RECQL4 C>A	8	145741503	145741503	C	A	RECQL4	c.1000G>T	NM_004260.3	NP_004251.3:p.(Glu334Ter)	NC_000008.10:g.145741503C>A	(Likely) pathogenic	1 lab	9fe01735e0
12:116446355 MED13L A>G	12	116446355	116446355	A	G	MED13L	c.1863T>C	NM_015335.4	NP_056150.1:p.(Ile621=)	NC_000012.11:g.116446355A>G	(Likely) benign	1 lab	9fe0618a84
1:247588390 NLRP3 A>T	1	247588390	247588390	A	T	NLRP3	c.1639A>T	NM_001243133.1	NP_001230062.1:p.(Ser547Cys)	NC_000001.10:g.247588390A>T	(Likely) benign	1 lab	9fe3d4d298
17:76488836 DNAH17 G>T	17	76488836	76488836	G	T	DNAH17	c.6420C>A	NM_173628.3	NP_775899.3:p.(Ser2140=)	NC_000017.10:g.76488836G>T	(Likely) benign	1 lab	9fe60f84e4
1:45973091 MMACHC G>T	1	45973091	45973091	G	T	MMACHC	c.145G>T	NM_015506.2	NP_056321.2:p.(Ala49Ser)	NC_000001.10:g.45973091G>T	VUS	1 lab	9fe6cbb0c4
11:47647232 MTCH2 T>C	11	47647232	47647232	T	C	MTCH2	c.743A>G	NM_001317231.1	NP_001304160.1:p.(Asn248Ser)	NC_000011.9:g.47647232T>C	(Likely) benign	1 lab	9fe9502306
17:29548861 NF1 A>G	17	29548861	29548861	A	G	NF1	c.1642-7A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548861A>G	(Likely) pathogenic	1 lab	9fea39c87c
4:170359414 NEK1 T>G	4	170359414	170359414	T	G	NEK1	c.2588-4A>C	NM_001199397.1	NP_001186326.1:p.?	NC_000004.11:g.170359414T>G	(Likely) benign	1 lab	9fea86820a
21:47775430 PCNT G>A	21	47775430	47775430	G	A	PCNT	c.1825G>A	NM_006031.5	NP_006022.3:p.(Glu609Lys)	NC_000021.8:g.47775430G>A	(Likely) benign	1 lab	9feb04a674
1:17270727 CROCC G>A	1	17270727	17270727	G	A	CROCC	c.1941G>A	NM_014675.5	NP_055490.4:p.(Gln647=)	NC_000001.10:g.17270727G>A	(Likely) benign	1 lab	9fec17ee9e
X:152034446 NSDHL G>A	X	152034446	152034446	G	A	NSDHL	c.627G>A	NM_015922.3	NP_057006.1:p.(Pro209=)	NC_000023.10:g.152034446G>A	(Likely) benign	1 lab	9fec33e3e3
6:51890773 PKHD1 C>T	6	51890773	51890773	C	T	PKHD1	c.3835G>A	NM_138694.3	NP_619639.3:p.(Ala1279Thr)	NC_000006.11:g.51890773C>T	(Likely) benign	1 lab	9fef13682a
16:88788467 PIEZO1 G>A	16	88788467	88788467	G	A	PIEZO1	c.4963C>T	NM_001142864.4	NP_001136336.2:p.(Arg1655Cys)	NC_000016.9:g.88788467G>A	(Likely) benign	1 lab	9fef89f261
X:34149407 FAM47A G>A	X	34149407	34149407	G	A	FAM47A	c.989C>T	NM_203408.3	NP_981953.2:p.(Pro330Leu)	NC_000023.10:g.34149407G>A	(Likely) benign	1 lab	9fefb9aeef
22:28388576 TTC28 CG>C	22	28388576	28388578	CG	C	TTC28	c.5551del	NM_001145418.2	NP_001138890.1:p.(Arg1851GlyfsTer52)	NC_000022.10:g.28388578del	VUS	1 lab	9ff20b9d67
2:71839803 DYSF C>T	2	71839803	71839803	C	T	DYSF	c.4251C>T	NM_001130981.1	NP_001124453.1:p.(Pro1417=)	NC_000002.11:g.71839803C>T	(Likely) benign	1 lab	9ff4d66c7f
11:121032967 TECTA C>T	11	121032967	121032967	C	T	TECTA	c.5160C>T	NM_005422.2	NP_005413.2:p.(Asp1720=)	NC_000011.9:g.121032967C>T	(Likely) benign	1 lab	9ff72bb911
11:73809191 C2CD3 G>A	11	73809191	73809191	G	A	C2CD3	c.2842C>T	NM_001286577.1	NP_001273506.1:p.(Arg948Ter)	NC_000011.9:g.73809191G>A	(Likely) pathogenic	1 lab	9ff8ab25c5
9:139396826 NOTCH1 C>T	9	139396826	139396826	C	T	NOTCH1	c.5282G>A	NM_017617.5	NP_060087.3:p.(Arg1761Gln)	NC_000009.11:g.139396826C>T	VUS	1 lab	9ffa60c114
X:38546897 TSPAN7 G>A	X	38546897	38546897	G	A	TSPAN7	c.726G>A	NM_004615.3	NP_004606.2:p.(Thr242=)	NC_000023.10:g.38546897G>A	VUS	1 lab	9ffafeca9e
19:9085659 MUC16 T>C	19	9085659	9085659	T	C	MUC16	c.6156A>G	NM_024690.2	NP_078966.2:p.(Leu2052=)	NC_000019.9:g.9085659T>C	(Likely) benign	1 lab	9ffb506779
21:47831590 PCNT C>T	21	47831590	47831590	C	T	PCNT	c.5603C>T	NM_006031.5	NP_006022.3:p.(Ala1868Val)	NC_000021.8:g.47831590C>T	(Likely) benign	1 lab	9ffbbf62b4
20:43257761 ADA C>T	20	43257761	43257761	C	T	ADA	c.145G>A	NM_000022.2	NP_000013.2:p.(Val49Ile)	NC_000020.10:g.43257761C>T	(Likely) benign	1 lab	9ffc01f7b4
8:7706329 SPAG11A C>T	8	7706329	7706329	C	T	SPAG11A	c.178C>T	NM_001081552.2	NP_001075021.2:p.(Arg60Trp)	NC_000008.10:g.7706329C>T	(Likely) benign	1 lab	9ffd489005
2:179440483 TTN G>A	2	179440483	179440483	G	A	TTN	c.70376C>T	NM_001267550.1	NP_001254479.1:p.(Pro23459Leu)	NC_000002.11:g.179440483G>A	VUS	1 lab	9ffe0c067b
2:70457905 TIA1 G>T	2	70457905	70457905	G	T	TIA1	c.205C>A	NM_022173.3	NP_071505.2:p.(Arg69=)	NC_000002.11:g.70457905G>T	(Likely) benign	1 lab	9fff4d93d3
1:228528297 OBSCN G>A	1	228528297	228528297	G	A	OBSCN	c.20377G>A	NM_001271223.2	NP_001258152.2:p.(Val6793Met)	NC_000001.10:g.228528297G>A	VUS	1 lab	a002465274
X:50121610 DGKK C>T	X	50121610	50121610	C	T	DGKK	c.2942G>A	NM_001013742.3	NP_001013764.1:p.(Arg981His)	NC_000023.10:g.50121610C>T	VUS	1 lab	a00584a92d
1:36565747 COL8A2 C>T	1	36565747	36565747	C	T	COL8A2	c.97G>A	NM_005202.3	NP_005193.1:p.(Gly33Ser)	NC_000001.10:g.36565747C>T	(Likely) benign	1 lab	a005f113b8
6:31915281 CFB C>T	6	31915281	31915281	C	T	CFB	c.641C>T	NM_001710.5	NP_001701.2:p.(Thr214Met)	NC_000006.11:g.31915281C>T	VUS	1 lab	a006057d7c
5:41054897 MROH2B T>C	5	41054897	41054897	T	C	MROH2B	c.1079A>G	NM_173489.5	NP_775760.3:p.(Lys360Arg)	NC_000005.9:g.41054897T>C	(Likely) benign	1 lab	a0063448f4
19:36592569 WDR62 C>T	19	36592569	36592569	C	T	WDR62	c.2975C>T	NM_001083961.1	NP_001077430.1:p.(Ser992Leu)	NC_000019.9:g.36592569C>T	(Likely) benign	1 lab	a006f4933f
X:22231011 PHEX C>T	X	22231011	22231011	C	T	PHEX	c.1646-10C>T	NM_000444.5	NP_000435.3:p.?	NC_000023.10:g.22231011C>T	(Likely) benign	1 lab	a007eeb1c9
2:179545816 TTN G>A	2	179545816	179545816	G	A	TTN	c.33330C>T	NM_001267550.1	NP_001254479.1:p.(Pro11110=)	NC_000002.11:g.179545816G>A	(Likely) benign	1 lab	a00a6f9b04
3:4704896 ITPR1 T>G	3	4704896	4704896	T	G	ITPR1	c.1554+6T>G	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4704896T>G	(Likely) benign	1 lab	a00acdcddb
2:179530503 TTN C>T	2	179530503	179530503	C	T	TTN	c.35891G>A	NM_001267550.1	NP_001254479.1:p.(Arg11964Gln)	NC_000002.11:g.179530503C>T	VUS	1 lab	a00d460bca
17:44060786 MAPT G>A	17	44060786	44060786	G	A	MAPT	c.616G>A	NM_001123066.3	NP_001116538.2:p.(Ala206Thr)	NC_000017.10:g.44060786G>A	(Likely) benign	1 lab	a00d6e49d7
X:22002487 SMS T>C	X	22002487	22002487	T	C	SMS	c.816T>C	NM_004595.4	NP_004586.2:p.(Tyr272=)	NC_000023.10:g.22002487T>C	(Likely) benign	1 lab	a014dd62e3
18:7025991 LAMA1 T>C	18	7025991	7025991	T	C	LAMA1	c.2389A>G	NM_005559.3	NP_005550.2:p.(Ile797Val)	NC_000018.9:g.7025991T>C	(Likely) benign	1 lab	a01502b962
4:79240064 FRAS1 C>T	4	79240064	79240064	C	T	FRAS1	c.2061C>T	NM_025074.7	NP_079350.5:p.(Asp687=)	NC_000004.11:g.79240064C>T	(Likely) benign	1 lab	a01ac01984
19:2046458 MKNK2 G>C	19	2046458	2046458	G	C	MKNK2	c.149C>G	NM_199054.2	NP_951009.1:p.(Ala50Gly)	NC_000019.9:g.2046458G>C	(Likely) benign	1 lab	a01adabbb9
2:209188975 PIKFYVE A>G	2	209188975	209188975	A	G	PIKFYVE	c.2300A>G	NM_015040.3	NP_055855.2:p.(His767Arg)	NC_000002.11:g.209188975A>G	VUS	1 lab	a01b481188
1:150310712 PRPF3 C>T	1	150310712	150310712	C	T	PRPF3	c.1112C>T	NM_004698.3	NP_004689.1:p.(Ala371Val)	NC_000001.10:g.150310712C>T	VUS	1 lab	a01b6bf9a1
19:7126639 INSR G>A	19	7126639	7126639	G	A	INSR	c.2969C>T	NM_000208.3	NP_000199.2:p.(Pro990Leu)	NC_000019.9:g.7126639G>A	VUS	1 lab	a01bb45a7f
X:154132782 F8 T>A	X	154132782	154132782	T	A	F8	c.5604A>T	NM_000132.3	NP_000123.1:p.(Ser1868=)	NC_000023.10:g.154132782T>A	(Likely) benign	1 lab	a01e2caecf
X:100879980 ARMCX3 C>T	X	100879980	100879980	C	T	ARMCX3	c.11C>T	NM_016607.3	NP_057691.1:p.(Ala4Val)	NC_000023.10:g.100879980C>T	(Likely) benign	1 lab	a0210061a4
2:211473244 CPS1 A>G	2	211473244	211473244	A	G	CPS1	c.2352A>G	NM_001875.4	NP_001866.2:p.(Thr784=)	NC_000002.11:g.211473244A>G	(Likely) benign	1 lab	a0211e09bf
22:32481013 SLC5A1 C>G	22	32481013	32481013	C	G	SLC5A1	c.1012C>G	NM_000343.3	NP_000334.1:p.(Leu338Val)	NC_000022.10:g.32481013C>G	VUS	1 lab	a021a2f588
4:1806033 FGFR3 G>T	4	1806033	1806033	G	T	FGFR3	c.1076-24G>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806033G>T	(Likely) benign	1 lab	a036fbf93e
X:67731809 YIPF6 G>A	X	67731809	67731809	G	A	YIPF6	c.176G>A	NM_173834.4	NP_776195.2:p.(Arg59His)	NC_000023.10:g.67731809G>A	VUS	1 lab	a0221a22c8
2:163136620 IFIH1 T>C	2	163136620	163136620	T	C	IFIH1	c.1527A>G	NM_022168.4	NP_071451.2:p.(Leu509=)	NC_000002.11:g.163136620T>C	(Likely) benign	1 lab	a0226c2f5c
1:201022653 CACNA1S C>T	1	201022653	201022653	C	T	CACNA1S	c.3729G>A	NM_000069.2	NP_000060.2:p.(Leu1243=)	NC_000001.10:g.201022653C>T	(Likely) benign	1 lab	a022a6db43
5:150923380 FAT2 A>G	5	150923380	150923380	A	G	FAT2	c.7308T>C	NM_001447.2	NP_001438.1:p.(Ile2436=)	NC_000005.9:g.150923380A>G	(Likely) benign	1 lab	a023739393
1:5925254 NPHP4 C>T	1	5925254	5925254	C	T	NPHP4	c.3724G>A	NM_015102.4	NP_055917.1:p.(Ala1242Thr)	NC_000001.10:g.5925254C>T	VUS	1 lab	a023873038
8:23167206 LOXL2 C>T	8	23167206	23167206	C	T	LOXL2	c.1855G>A	NM_002318.2	NP_002309.1:p.(Ala619Thr)	NC_000008.10:g.23167206C>T	VUS	1 lab	a027733578
11:94212048 MRE11 C>T	11	94212048	94212048	C	T	MRE11	c.403-6G>A	NM_005591.3	NP_005582.1:p.?	NC_000011.9:g.94212048C>T	(Likely) benign	1 lab	a028a301a8
16:31201658 FUS C>T	16	31201658	31201658	C	T	FUS	c.1231C>T	NM_004960.3	NP_004951.1:p.(Pro411Ser)	NC_000016.9:g.31201658C>T	VUS	1 lab	a029f5371f
X:70517776 NONO C>T	X	70517776	70517776	C	T	NONO	c.1119C>T	NM_001145408.1	NP_001138880.1:p.(Thr373=)	NC_000023.10:g.70517776C>T	(Likely) benign	1 lab	a02af18eb0
3:10413600 ATP2B2 C>T	3	10413600	10413600	C	T	ATP2B2	c.1417G>A	NM_001330611.2	NP_001317540.1:p.(Asp473Asn)	NC_000003.11:g.10413600C>T	(Likely) benign	1 lab	a02dede241
2:179438732 TTN C>A	2	179438732	179438732	C	A	TTN	c.72127G>T	NM_001267550.1	NP_001254479.1:p.(Ala24043Ser)	NC_000002.11:g.179438732C>A	VUS	1 lab	a02e282793
16:15809049 MYH11 C>T	16	15809049	15809049	C	T	MYH11	c.5606G>A	NM_001040113.1	NP_001035202.1:p.(Arg1869His)	NC_000016.9:g.15809049C>T	VUS	1 lab	a02eaf3471
1:183072511 LAMC1 G>A	1	183072511	183072511	G	A	LAMC1	c.467G>A	NM_002293.3	NP_002284.3:p.(Arg156His)	NC_000001.10:g.183072511G>A	VUS	1 lab	a02f07b8e8
X:66765627 AR G>A	X	66765627	66765627	G	A	AR	c.639G>A	NM_000044.4	NP_000035.2:p.(Glu213=)	NC_000023.10:g.66765627G>A	(Likely) benign	1 lab	a0324cce4f
12:75816798 GLIPR1L2 A>C	12	75816798	75816798	A	C	GLIPR1L2	c.699A>C	NM_152436.2	NP_689649.1:p.(Lys233Asn)	NC_000012.11:g.75816798A>C	(Likely) benign	1 lab	a0330de750
19:16860397 NWD1 G>A	19	16860397	16860397	G	A	NWD1	c.539G>A	NM_001290355.2	NP_001277284.1:p.(Arg180His)	NC_000019.9:g.16860397G>A	(Likely) benign	1 lab	a035860dfd
7:6054834 AIMP2 C>T	7	6054834	6054834	C	T	AIMP2	c.106C>T	NM_001362785.1	NP_001349714.1:p.(Arg36Cys)	NC_000007.13:g.6054834C>T	(Likely) benign	1 lab	a036ec29ff
7:51095502 COBL A>T	7	51095502	51095502	A	T	COBL	c.3462T>A	NM_001287436.2	NP_001274365.1:p.(Pro1154=)	NC_000007.13:g.51095502A>T	(Likely) benign	1 lab	a036ff2274
12:86377442 MGAT4C C>T	12	86377442	86377442	C	T	MGAT4C	c.154G>A	NM_013244.4	NP_037376.2:p.(Asp52Asn)	NC_000012.11:g.86377442C>T	VUS	1 lab	a03928c892
10:97604230 ENTPD1 CA>C	10	97604230	97604231	CA	C	ENTPD1	c.414-2del	NM_001776.6	NP_001767.3:p.?	NC_000010.10:g.97604231del	(Likely) pathogenic	1 lab	a03a235c84
1:150526439 ADAMTSL4 C>T	1	150526439	150526439	C	T	ADAMTSL4	c.972C>T	NM_001288608.1	NP_001275537.1:p.(His324=)	NC_000001.10:g.150526439C>T	(Likely) benign	1 lab	a03bf130e6
6:80634687 ELOVL4 A>T	6	80634687	80634687	A	T	ELOVL4	c.351T>A	NM_022726.3	NP_073563.1:p.(Asn117Lys)	NC_000006.11:g.80634687A>T	(Likely) benign	1 lab	a03c7738f7
18:74154973 ZNF516 C>T	18	74154973	74154973	C	T	ZNF516	c.38G>A	NM_014643.3	NP_055458.1:p.(Arg13Gln)	NC_000018.9:g.74154973C>T	VUS	1 lab	a03cd740ea
17:17070554 MPRIP A>G	17	17070554	17070554	A	G	MPRIP	c.2164-4478A>G	NM_015134.3	NP_055949.2:p.?	NC_000017.10:g.17070554A>G	(Likely) benign	1 lab	a03d0ee677
16:2150219 PKD1 C>T	16	2150219	2150219	C	T	PKD1	c.9660G>A	NM_001009944.2	NP_001009944.2:p.(Ser3220=)	NC_000016.9:g.2150219C>T	(Likely) benign	1 lab	a03db8ca9c
X:18643280 CDKL5 G>A	X	18643280	18643280	G	A	CDKL5	c.2409G>A	NM_001323289.1	NP_001310218.1:p.(Thr803=)	NC_000023.10:g.18643280G>A	(Likely) benign	1 lab	a03ef517c0
2:110917784 NPHP1 A>G	2	110917784	110917784	A	G	NPHP1	c.1171T>C	NM_000272.3	NP_000263.2:p.(Cys391Arg)	NC_000002.11:g.110917784A>G	VUS	1 lab	a0403cc606
16:88803066 PIEZO1 C>T	16	88803066	88803066	C	T	PIEZO1	c.1277G>A	NM_001142864.4	NP_001136336.2:p.(Cys426Tyr)	NC_000016.9:g.88803066C>T	VUS	1 lab	a041d52aaf
14:90485730 TDP1 G>A	14	90485730	90485730	G	A	TDP1	c.1612G>A	NM_018319.3	NP_060789.2:p.(Glu538Lys)	NC_000014.8:g.90485730G>A	VUS	1 lab	a0423892ca
19:4816299 TICAM1 G>A	19	4816299	4816299	G	A	TICAM1	c.2091C>T	NM_182919.3	NP_891549.1:p.(Asn697=)	NC_000019.9:g.4816299G>A	(Likely) benign	1 lab	a04374567b
4:1807876 FGFR3 C>T	4	1807876	1807876	C	T	FGFR3	c.1935C>T	NM_000142.4	NP_000133.1:p.(Leu645=)	NC_000004.11:g.1807876C>T	(Likely) benign	1 lab	a044106bdb
18:21114472 NPC1 C>A	18	21114472	21114472	C	A	NPC1	c.3529G>T	NM_000271.4	NP_000262.2:p.(Val1177Leu)	NC_000018.9:g.21114472C>A	(Likely) benign	1 lab	a044c9cef9
1:11288618 MTOR G>A	1	11288618	11288618	G	A	MTOR	c.3030+107C>T	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11288618G>A	(Likely) benign	1 lab	a04800d3ec
2:240961724 NDUFA10 G>A	2	240961724	240961724	G	A	NDUFA10	c.109C>T	NM_004544.3	NP_004535.1:p.(Arg37Cys)	NC_000002.11:g.240961724G>A	VUS	1 lab	a0492f26ac
12:66786176 GRIP1 G>A	12	66786176	66786176	G	A	GRIP1	c.2220C>T	NM_021150.3	NP_066973.2:p.(Ser740=)	NC_000012.11:g.66786176G>A	(Likely) benign	1 lab	a04980e436
17:73838523 UNC13D G>T	17	73838523	73838523	G	T	UNC13D	c.560C>A	NM_199242.2	NP_954712.1:p.(Thr187Asn)	NC_000017.10:g.73838523G>T	VUS	1 lab	a04982f7d0
7:94056338 COL1A2 G>C	7	94056338	94056338	G	C	COL1A2	c.3124G>C	NM_000089.3	NP_000080.2:p.(Gly1042Arg)	NC_000007.13:g.94056338G>C	VUS	1 lab	a04a93a1b5
11:65487826 RNASEH2C G>C	11	65487826	65487826	G	C	RNASEH2C	c.235C>G	NM_032193.3	NP_115569.2:p.(Leu79Val)	NC_000011.9:g.65487826G>C	(Likely) benign	1 lab	a04cd6a75a
14:51378517 PYGL C>G	14	51378517	51378517	C	G	PYGL	c.1900G>C	NM_002863.4	NP_002854.3:p.(Asp634His)	NC_000014.8:g.51378517C>G	VUS	1 lab	a04d093979
12:49433773 KMT2D G>A	12	49433773	49433773	G	A	KMT2D	c.7780C>T	NM_003482.3	NP_003473.3:p.(Leu2594=)	NC_000012.11:g.49433773G>A	(Likely) benign	1 lab	a04d14fc24
14:77844285 SAMD15 C>G	14	77844285	77844285	C	G	SAMD15	c.524C>G	NM_001010860.2	NP_001010860.1:p.(Thr175Arg)	NC_000014.8:g.77844285C>G	VUS	1 lab	a04dbfeb97
10:50178242 WDFY4 A>G	10	50178242	50178242	A	G	WDFY4	c.8836A>G	NM_020945.1	NP_065996.1:p.(Thr2946Ala)	NC_000010.10:g.50178242A>G	VUS	1 lab	a04dd36921
3:46009684 FYCO1 G>GT	3	46009684	46009685	G	GT	FYCO1	c.1141dup	NM_024513.3	NP_078789.2:p.(Thr381AsnfsTer15)	NC_000003.11:g.46009685dup	(Likely) pathogenic	1 lab	a04e4c2aea
18:3456395 TGIF1 C>T	18	3456395	3456395	C	T	TGIF1	c.447C>T	NM_170695.3	NP_733796.2:p.(Ser149=)	NC_000018.9:g.3456395C>T	(Likely) benign	1 lab	a04ebaea44
16:1634385 IFT140 C>T	16	1634385	1634385	C	T	IFT140	c.1192G>A	NM_014714.3	NP_055529.2:p.(Val398Ile)	NC_000016.9:g.1634385C>T	(Likely) benign	1 lab	a04fa6b4e1
1:169551675 F5 T>C	1	169551675	169551675	T	C	F5	c.244A>G	NM_000130.4	NP_000121.2:p.(Ile82Val)	NC_000001.10:g.169551675T>C	(Likely) benign	1 lab	a04fbf87db
X:37028897 FAM47C A>G	X	37028897	37028897	A	G	FAM47C	c.2414A>G	NM_001013736.2	NP_001013758.1:p.(Lys805Arg)	NC_000023.10:g.37028897A>G	VUS	1 lab	a050cece6f
22:18910376 PRODH G>A	22	18910376	18910376	G	A	PRODH	c.803C>T	NM_016335.4	NP_057419.4:p.(Ala268Val)	NC_000022.10:g.18910376G>A	(Likely) benign	1 lab	a0520f74bb
X:153640060 TAFAZZIN C>CT	X	153640060	153640061	C	CT	TAFAZZIN	c.-120dup	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640061dup	(Likely) benign	1 lab	a0b5608b57
7:42088289 GLI3 G>A	7	42088289	42088289	G	A	GLI3	c.480C>T	NM_000168.5	NP_000159.3:p.(Ser160=)	NC_000007.13:g.42088289G>A	(Likely) benign	1 lab	a05210fd6a
X:15376270 VEGFD G>A	X	15376270	15376270	G	A	VEGFD	c.347C>T	NM_004469.4	NP_004460.1:p.(Thr116Met)	NC_000023.10:g.15376270G>A	VUS	1 lab	a0540f1475
17:79954684 ASPSCR1 C>T	17	79954684	79954684	C	T	ASPSCR1	c.895C>T	NM_001251888.1	NP_001238817.1:p.(Arg299Trp)	NC_000017.10:g.79954684C>T	VUS	1 lab	a05443b8e7
12:111348913 MYL2 G>C	12	111348913	111348913	G	C	MYL2	c.469C>G	NM_000432.3	NP_000423.2:p.(His157Asp)	NC_000012.11:g.111348913G>C	VUS	1 lab	a054829b19
17:44073970 MAPT G>A	17	44073970	44073970	G	A	MAPT	c.762G>A	NM_005910.5	NP_005901.2:p.(Lys254=)	NC_000017.10:g.44073970G>A	(Likely) benign	1 lab	a05736002c
X:107380364 ATG4A G>A	X	107380364	107380364	G	A	ATG4A	c.511G>A	NM_052936.5	NP_443168.2:p.(Val171Ile)	NC_000023.10:g.107380364G>A	VUS	1 lab	a05795b381
5:149360961 SLC26A2 AAACT>A	5	149360961	149360965	AAACT	A	SLC26A2	c.1806_1809del	NM_000112.4	NP_000103.2:p.(Thr603SerfsTer5)	NC_000005.9:g.149360962_149360965del	(Likely) pathogenic	1 lab	a057afc2fc
2:71741026 DYSF T>C	2	71741026	71741026	T	C	DYSF	c.731T>C	NM_001130981.1	NP_001124453.1:p.(Leu244Pro)	NC_000002.11:g.71741026T>C	VUS	1 lab	a057b2fa24
17:29550436 NF1 T>G	17	29550436	29550436	T	G	NF1	c.1722-26T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550436T>G	(Likely) benign	1 lab	a059290ce0
13:23911439 SACS G>A	13	23911439	23911439	G	A	SACS	c.6576C>T	NM_014363.5	NP_055178.3:p.(Ile2192=)	NC_000013.10:g.23911439G>A	(Likely) benign	1 lab	a05a85f3c1
9:79828214 VPS13A AT>A	9	79828214	79828216	AT	A	VPS13A	c.682del	NM_033305.3	NP_150648.2:p.(Tyr228MetfsTer8)	NC_000009.11:g.79828216del	VUS	1 lab	a05a8f9554
2:97427170 CNNM4 T>C	2	97427170	97427170	T	C	CNNM4	c.434T>C	NM_020184.3	NP_064569.3:p.(Met145Thr)	NC_000002.11:g.97427170T>C	VUS	1 lab	a05cd6fc01
14:64906948 MTHFD1 C>T	14	64906948	64906948	C	T	MTHFD1	c.1779C>T	NM_005956.4	NP_005947.3:p.(Ser593=)	NC_000014.8:g.64906948C>T	(Likely) benign	1 lab	a05df5c434
19:35449940 ZNF792 C>G	19	35449940	35449940	C	G	ZNF792	c.819G>C	NM_175872.5	NP_787068.3:p.(Gln273His)	NC_000019.9:g.35449940C>G	VUS	1 lab	a05e949de6
X:129837155 ENOX2 G>A	X	129837155	129837155	G	A	ENOX2	c.123C>T	NM_182314.2	NP_872114.1:p.(Ala41=)	NC_000023.10:g.129837155G>A	(Likely) benign	1 lab	a05ec8b09c
9:137591769 COL5A1 G>A	9	137591769	137591769	G	A	COL5A1	c.292G>A	NM_000093.4	NP_000084.3:p.(Glu98Lys)	NC_000009.11:g.137591769G>A	VUS	1 lab	a05f92144c
10:112039826 MXI1 G>A	10	112039826	112039826	G	A	MXI1	c.707G>A	NM_130439.3	NP_569157.2:p.(Arg236His)	NC_000010.10:g.112039826G>A	VUS	1 lab	a060cb8223
19:45867375 ERCC2 A>C	19	45867375	45867375	A	C	ERCC2	c.818T>G	NM_000400.3	NP_000391.1:p.(Ile273Ser)	NC_000019.9:g.45867375A>C	VUS	1 lab	a061154bff
X:108708408 GUCY2F GC>G	X	108708408	108708409	GC	G	GUCY2F	c.994del	NM_001522.3	NP_001513.2:p.(Ala332GlnfsTer32)	NC_000023.10:g.108708409del	VUS	1 lab	a0613bd332
6:128643194 PTPRK T>C	6	128643194	128643194	T	C	PTPRK	c.485A>G	NM_001135648.2	NP_001129120.1:p.(Asn162Ser)	NC_000006.11:g.128643194T>C	(Likely) benign	1 lab	a0614c263a
4:2061458 NAT8L G>C	4	2061458	2061458	G	C	NAT8L	c.220G>C	NM_178557.4	NP_848652.2:p.(Gly74Arg)	NC_000004.11:g.2061458G>C	VUS	1 lab	a0632e0b42
13:32906323 BRCA2 ACTG>TGTGCTAAAT	13	32906323	32906326	ACTG	TGTGCTAAAT	BRCA2	c.794-86_794-83delinsTGTGCTAAAT	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32906323_32906326delinsTGTGCTAAAT	(Likely) benign	1 lab	a064350683
10:64974807 JMJD1C C>G	10	64974807	64974807	C	G	JMJD1C	c.1120G>C	NM_032776.2	NP_116165.1:p.(Asp374His)	NC_000010.10:g.64974807C>G	VUS	1 lab	a06450afa4
X:13588027 EGFL6 T>G	X	13588027	13588027	T	G	EGFL6	c.47T>G	NM_001167890.1	NP_001161362.1:p.(Val16Gly)	NC_000023.10:g.13588027T>G	(Likely) benign	1 lab	a06804ca41
6:152540230 SYNE1 C>T	6	152540230	152540230	C	T	SYNE1	c.21952G>A	NM_182961.3	NP_892006.3:p.(Ala7318Thr)	NC_000006.11:g.152540230C>T	VUS	1 lab	a06965eb67
2:220349783 SPEG C>T	2	220349783	220349783	C	T	SPEG	c.7598C>T	NM_005876.4	NP_005867.3:p.(Ser2533Leu)	NC_000002.11:g.220349783C>T	VUS	1 lab	a06a2ef883
7:92733360 SAMD9 T>C	7	92733360	92733360	T	C	SAMD9	c.2051A>G	NM_017654.3	NP_060124.2:p.(Tyr684Cys)	NC_000007.13:g.92733360T>C	(Likely) pathogenic	1 lab	a06d968b92
17:29560226 NF1 CAGTG>C	17	29560226	29560230	CAGTG	C	NF1	c.3704_3707del	NM_001042492.3	NP_001035957.1:p.(Gln1235ArgfsTer4)	NC_000017.10:g.29560227_29560230del	(Likely) pathogenic	1 lab	a06e35f183
6:33638138 ITPR3 C>T	6	33638138	33638138	C	T	ITPR3	c.2226C>T	NM_002224.3	NP_002215.2:p.(Asp742=)	NC_000006.11:g.33638138C>T	(Likely) benign	1 lab	a06f6d8659
15:100672289 ADAMTS17 C>T	15	100672289	100672289	C	T	ADAMTS17	c.1644G>A	NM_139057.3	NP_620688.2:p.(Pro548=)	NC_000015.9:g.100672289C>T	(Likely) benign	1 lab	a06fc5ecb3
2:234240330 SAG G>A	2	234240330	234240330	G	A	SAG	c.778G>A	NM_000541.4	NP_000532.2:p.(Val260Ile)	NC_000002.11:g.234240330G>A	(Likely) benign	1 lab	a070b19a6e
15:42178164 SPTBN5 C>T	15	42178164	42178164	C	T	SPTBN5	c.1289G>A	NM_016642.4	NP_057726.4:p.(Arg430His)	NC_000015.9:g.42178164C>T	(Likely) benign	1 lab	a0710bf60e
3:160018694 IFT80 A>G	3	160018694	160018694	A	G	IFT80	c.881T>C	NM_001190241.1	NP_001177170.1:p.(Ile294Thr)	NC_000003.11:g.160018694A>G	VUS	1 lab	a072606d2c
14:68191212 RDH12 T>C	14	68191212	68191212	T	C	RDH12	c.91T>C	NM_152443.2	NP_689656.2:p.(Cys31Arg)	NC_000014.8:g.68191212T>C	VUS	1 lab	a0726302f7
3:81586078 GBE1 C>T	3	81586078	81586078	C	T	GBE1	c.1787G>A	NM_000158.3	NP_000149.3:p.(Trp596Ter)	NC_000003.11:g.81586078C>T	(Likely) pathogenic	1 lab	a072e3a225
9:140852095 CACNA1B A>G	9	140852095	140852095	A	G	CACNA1B	c.1289A>G	NM_000718.3	NP_000709.1:p.(His430Arg)	NC_000009.11:g.140852095A>G	(Likely) benign	1 lab	a07c9f053c
11:17653683 OTOG G>A	11	17653683	17653683	G	A	OTOG	c.7018G>A	NM_001277269.1	NP_001264198.1:p.(Val2340Met)	NC_000011.9:g.17653683G>A	VUS	1 lab	a07cb3db33
19:3771533 RAX2 G>A	19	3771533	3771533	G	A	RAX2	c.346C>T	NM_001319074.1	NP_001306003.1:p.(Arg116Cys)	NC_000019.9:g.3771533G>A	VUS	1 lab	a07e3fcc57
7:1526609 INTS1 C>G	7	1526609	1526609	C	G	INTS1	c.2775G>C	NM_001080453.3	NP_001073922.2:p.(Gly925=)	NC_000007.13:g.1526609C>G	(Likely) benign	1 lab	a07e98bd6e
X:49063275 CACNA1F G>A	X	49063275	49063275	G	A	CACNA1F	c.5306C>T	NM_005183.3	NP_005174.2:p.(Ser1769Leu)	NC_000023.10:g.49063275G>A	(Likely) benign	1 lab	a07ed7e47d
19:55363703 KIR3DL2 G>A	19	55363703	55363703	G	A	KIR3DL2	c.321G>A	NM_006737.3	NP_006728.2:p.(Ser107=)	NC_000019.9:g.55363703G>A	(Likely) benign	1 lab	a081ab784c
2:179642261 TTN C>T	2	179642261	179642261	C	T	TTN	c.4531G>A	NM_001267550.1	NP_001254479.1:p.(Gly1511Ser)	NC_000002.11:g.179642261C>T	VUS	1 lab	a0828f2bc7
8:104922623 RIMS2 C>T	8	104922623	104922623	C	T	RIMS2	c.1123C>T	NM_001282881.1	NP_001269810.1:p.(Gln375Ter)	NC_000008.10:g.104922623C>T	(Likely) benign	1 lab	a086517e21
10:105233385 CALHM3 T>C	10	105233385	105233385	T	C	CALHM3	c.620A>G	NM_001129742.1	NP_001123214.1:p.(Gln207Arg)	NC_000010.10:g.105233385T>C	VUS	1 lab	a086bfe516
17:29663691 NF1 C>CTT	17	29663691	29663693	C	CTT	NF1	c.6124_6125dup	NM_000267.3	NP_000258.1:p.(Leu2042PhefsTer8)	NC_000017.10:g.29663692_29663693dup	(Likely) pathogenic	1 lab	a087731f53
5:150885608 FAT2 G>A	5	150885608	150885608	G	A	FAT2	c.12568C>T	NM_001447.2	NP_001438.1:p.(Arg4190Cys)	NC_000005.9:g.150885608G>A	(Likely) benign	1 lab	a08811fbab
X:50051711 CCNB3 G>A	X	50051711	50051711	G	A	CCNB3	c.542G>A	NM_033031.2	NP_149020.2:p.(Cys181Tyr)	NC_000023.10:g.50051711G>A	(Likely) benign	1 lab	a0886855ce
X:22291628 CBLL2 A>G	X	22291628	22291628	A	G	CBLL2	c.520A>G	NM_152577.3	NP_689790.1:p.(Arg174Gly)	NC_000023.10:g.22291628A>G	VUS	1 lab	a089bf3809
X:71349793 RTL5 C>T	X	71349793	71349793	C	T	RTL5	c.1598G>A	NM_001024455.3	NP_001019626.1:p.(Arg533His)	NC_000023.10:g.71349793C>T	(Likely) benign	1 lab	a08b0c2311
X:12905190 TLR7 C>T	X	12905190	12905190	C	T	TLR7	c.1563C>T	NM_016562.3	NP_057646.1:p.(Cys521=)	NC_000023.10:g.12905190C>T	(Likely) benign	1 lab	a08c86aab3
17:29552191 NF1 CA>C	17	29552191	29552194	CA	C	NF1	c.1927del	NM_001042492.3	NP_001035957.1:p.(Met643CysfsTer45)	NC_000017.10:g.29552194del	(Likely) pathogenic	1 lab	a08cdb0917
X:23803682 SAT1 G>A	X	23803682	23803682	G	A	SAT1	c.345+5G>A	NM_002970.3	NP_002961.1:p.?	NC_000023.10:g.23803682G>A	VUS	1 lab	a09220dc12
13:32929238 BRCA2 T>C	13	32929238	32929238	T	C	BRCA2	c.7248T>C	NM_000059.3	NP_000050.2:p.(Phe2416=)	NC_000013.10:g.32929238T>C	(Likely) benign	1 lab	a09232b57f
17:29559109 NF1 C>G	17	29559109	29559109	C	G	NF1	c.3216C>G	NM_000267.3	NP_000258.1:p.(Ser1072Arg)	NC_000017.10:g.29559109C>G	(Likely) pathogenic	1 lab	a092901f61
2:20145731 WDR35 C>A	2	20145731	20145731	C	A	WDR35	c.1694G>T	NM_001006657.1	NP_001006658.1:p.(Gly565Val)	NC_000002.11:g.20145731C>A	VUS	1 lab	a092f2e591
6:160517462 IGF2R G>A	6	160517462	160517462	G	A	IGF2R	c.6656-9G>A	NM_000876.3	NP_000867.2:p.?	NC_000006.11:g.160517462G>A	(Likely) benign	1 lab	a0976c7665
17:29559178 NF1 G>T	17	29559178	29559178	G	T	NF1	c.3285G>T	NM_000267.3	NP_000258.1:p.(Leu1095Phe)	NC_000017.10:g.29559178G>T	VUS	1 lab	a098508505
14:105409223 AHNAK2 C>T	14	105409223	105409223	C	T	AHNAK2	c.12565G>A	NM_138420.3	NP_612429.2:p.(Asp4189Asn)	NC_000014.8:g.105409223C>T	(Likely) benign	1 lab	a098db4d4b
21:46875555 COL18A1 C>T	21	46875555	46875555	C	T	COL18A1	c.111C>T	NM_130444.3	NP_569711.2:p.(Asp37=)	NC_000021.8:g.46875555C>T	(Likely) benign	1 lab	a099cec355
X:34961001 FAM47B A>C	X	34961001	34961001	A	C	FAM47B	c.53A>C	NM_152631.2	NP_689844.2:p.(Lys18Thr)	NC_000023.10:g.34961001A>C	(Likely) benign	1 lab	a09aae9b63
17:46804153 HOXB13 TA>T	17	46804153	46804155	TA	T	HOXB13	c.853del	NM_006361.6	NP_006352.2:p.(Ter285LysextTer96)	NC_000017.10:g.46804155del	VUS	1 lab	a09c333354
2:163174560 IFIH1 G>C	2	163174560	163174560	G	C	IFIH1	c.258C>G	NM_022168.4	NP_071451.2:p.(Thr86=)	NC_000002.11:g.163174560G>C	(Likely) benign	1 lab	a09ef127bf
19:1244381 ATP5F1D C>T	19	1244381	1244381	C	T	ATP5F1D	c.452C>T	NM_001687.5	NP_001678.1:p.(Ala151Val)	NC_000019.9:g.1244381C>T	VUS	1 lab	a0a0a7efaf
8:144993951 PLEC G>A	8	144993951	144993951	G	A	PLEC	c.10449C>T	NM_201380.3	NP_958782.1:p.(Ser3483=)	NC_000008.10:g.144993951G>A	(Likely) benign	1 lab	a0a1894222
X:66863242 AR C>T	X	66863242	66863242	C	T	AR	c.165C>T	NM_001011645.3	NP_001011645.1:p.(Ala55=)	NC_000023.10:g.66863242C>T	(Likely) benign	1 lab	a0a23ae47c
11:47364461 MYBPC3 G>C	11	47364461	47364461	G	C	MYBPC3	c.1377C>G	NM_000256.3	NP_000247.2:p.(Pro459=)	NC_000011.9:g.47364461G>C	(Likely) benign	1 lab	a0a2a7996b
14:23314493 MMP14 G>T	14	23314493	23314493	G	T	MMP14	c.1335G>T	NM_004995.3	NP_004986.1:p.(Val445=)	NC_000014.8:g.23314493G>T	(Likely) benign	1 lab	a0a2d19132
2:179614110 TTN A>G	2	179614110	179614110	A	G	TTN	c.13017T>C	NM_133379.4	NP_596870.2:p.(Gly4339=)	NC_000002.11:g.179614110A>G	(Likely) benign	1 lab	a0a329dbf4
8:10468350 RP1L1 C>T	8	10468350	10468350	C	T	RP1L1	c.3258G>A	NM_178857.5	NP_849188.4:p.(Met1086Ile)	NC_000008.10:g.10468350C>T	VUS	1 lab	a0a392bc98
11:120998520 TECTA G>A	11	120998520	120998520	G	A	TECTA	c.1834G>A	NM_005422.2	NP_005413.2:p.(Asp612Asn)	NC_000011.9:g.120998520G>A	(Likely) benign	1 lab	a0a42f021e
4:9213459 USP17L10 C>G	4	9213459	9213459	C	G	USP17L10	c.1077C>G	NM_001256852.1	NP_001243781.1:p.(Ile359Met)	NC_000004.11:g.9213459C>G	(Likely) benign	1 lab	a0a4fb7d4a
4:79334181 FRAS1 T>C	4	79334181	79334181	T	C	FRAS1	c.4367T>C	NM_025074.7	NP_079350.5:p.(Ile1456Thr)	NC_000004.11:g.79334181T>C	VUS	1 lab	a0a6111ae1
4:151504471 MAB21L2 G>A	4	151504471	151504471	G	A	MAB21L2	c.290G>A	NM_006439.4	NP_006430.1:p.(Cys97Tyr)	NC_000004.11:g.151504471G>A	VUS	1 lab	a0a7d0adce
2:179559362 TTN G>A	2	179559362	179559362	G	A	TTN	c.31390C>T	NM_001267550.1	NP_001254479.1:p.(Arg10464Trp)	NC_000002.11:g.179559362G>A	VUS	1 lab	a0a9e62a66
5:150945502 FAT2 C>T	5	150945502	150945502	C	T	FAT2	c.2991G>A	NM_001447.2	NP_001438.1:p.(Leu997=)	NC_000005.9:g.150945502C>T	(Likely) benign	1 lab	a0a9e732da
17:18047250 MYO15A G>A	17	18047250	18047250	G	A	MYO15A	c.6113G>A	NM_016239.3	NP_057323.3:p.(Arg2038His)	NC_000017.10:g.18047250G>A	VUS	1 lab	a0af4079d3
10:104268877 SUFU G>C	10	104268877	104268877	G	C	SUFU	c.183-49G>C	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104268877G>C	(Likely) benign	1 lab	a0afea38c5
2:172671702 SLC25A12 C>A	2	172671702	172671702	C	A	SLC25A12	c.941G>T	NM_003705.4	NP_003696.2:p.(Gly314Val)	NC_000002.11:g.172671702C>A	(Likely) benign	1 lab	a0b273db9b
10:101960537 CHUK C>A	10	101960537	101960537	C	A	CHUK	c.1570G>T	NM_001278.4	NP_001269.3:p.(Val524Phe)	NC_000010.10:g.101960537C>A	VUS	1 lab	a0b3fad501
16:87678471 JPH3 C>T	16	87678471	87678471	C	T	JPH3	c.990C>T	NM_020655.3	NP_065706.2:p.(Asp330=)	NC_000016.9:g.87678471C>T	(Likely) benign	1 lab	a0b4b4f1d6
3:52388933 DNAH1 C>T	3	52388933	52388933	C	T	DNAH1	c.3555C>T	NM_015512.4	NP_056327.4:p.(Tyr1185=)	NC_000003.11:g.52388933C>T	(Likely) benign	1 lab	a0b4df5506
5:14394208 TRIO A>T	5	14394208	14394208	A	T	TRIO	c.4280A>T	NM_007118.3	NP_009049.2:p.(Gln1427Leu)	NC_000005.9:g.14394208A>T	VUS	1 lab	a0b5315345
17:1635669 WDR81 G>A	17	1635669	1635669	G	A	WDR81	c.4208G>A	NM_001163809.1	NP_001157281.1:p.(Ser1403Asn)	NC_000017.10:g.1635669G>A	VUS	1 lab	a0b5bcc9b4
2:169996974 LRP2 G>A	2	169996974	169996974	G	A	LRP2	c.13190C>T	NM_004525.3	NP_004516.2:p.(Pro4397Leu)	NC_000002.11:g.169996974G>A	VUS	1 lab	a0b68c1676
17:7923441 GUCY2D C>T	17	7923441	7923441	C	T	GUCY2D	c.*25-5C>T	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7923441C>T	(Likely) benign	1 lab	a0b6da2ea0
11:103124071 DYNC2H1 G>A	11	103124071	103124071	G	A	DYNC2H1	c.10121G>A	NM_001080463.1	NP_001073932.1:p.(Arg3374His)	NC_000011.9:g.103124071G>A	VUS	1 lab	a0b79b1ad2
2:26683586 OTOF C>T	2	26683586	26683586	C	T	OTOF	c.5742G>A	NM_194248.2	NP_919224.1:p.(Leu1914=)	NC_000002.11:g.26683586C>T	(Likely) benign	1 lab	a0b7d64853
16:1618339 IFT140 C>T	16	1618339	1618339	C	T	IFT140	c.1653-4G>A	NM_014714.3	NP_055529.2:p.?	NC_000016.9:g.1618339C>T	(Likely) benign	1 lab	a0bc5669b5
16:16315531 ABCC6 A>T	16	16315531	16315531	A	T	ABCC6	c.194T>A	NM_001171.5	NP_001162.4:p.(Met65Lys)	NC_000016.9:g.16315531A>T	VUS	1 lab	a0bd2e5b48
X:118893513 SOWAHD G>A	X	118893513	118893513	G	A	SOWAHD	c.883G>A	NM_001105576.3	NP_001099046.1:p.(Gly295Ser)	NC_000023.10:g.118893513G>A	(Likely) benign	1 lab	a0bee457f3
6:170176647 ERMARD CA>TG	6	170176647	170176648	CA	TG	ERMARD	c.1617_1618inv	NM_018341.2	NP_060811.1:p.(Ser540Gly)	NC_000006.11:g.170176647_170176648inv	(Likely) benign	1 lab	a0bf9333ab
11:47357495 MYBPC3 C>T	11	47357495	47357495	C	T	MYBPC3	c.2670G>A	NM_000256.3	NP_000247.2:p.(Trp890Ter)	NC_000011.9:g.47357495C>T	(Likely) pathogenic	1 lab	a0bfcc6655
16:20360508 UMOD C>T	16	20360508	20360508	C	T	UMOD	c.214G>A	NM_001278614.1	NP_001265543.1:p.(Ala72Thr)	NC_000016.9:g.20360508C>T	VUS	1 lab	a0c0b82bef
10:118310705 PNLIP C>T	10	118310705	118310705	C	T	PNLIP	c.420C>T	NM_000936.3	NP_000927.1:p.(Ile140=)	NC_000010.10:g.118310705C>T	(Likely) benign	1 lab	a0c49655a3
2:50847229 NRXN1 T>C	2	50847229	50847229	T	C	NRXN1	c.1371A>G	NM_001135659.2	NP_001129131.1:p.(Gly457=)	NC_000002.11:g.50847229T>C	(Likely) benign	1 lab	a0c4f1b151
16:3707056 DNASE1 G>C	16	3707056	3707056	G	C	DNASE1	c.493G>C	NM_005223.3	NP_005214.2:p.(Glu165Gln)	NC_000016.9:g.3707056G>C	VUS	1 lab	a0c60b6390
X:101971255 GPRASP2 C>T	X	101971255	101971255	C	T	GPRASP2	c.1458C>T	NM_001184874.2	NP_001171803.1:p.(Ser486=)	NC_000023.10:g.101971255C>T	(Likely) benign	1 lab	a0c615c013
1:168274374 TBX19 C>T	1	168274374	168274374	C	T	TBX19	c.856C>T	NM_005149.2	NP_005140.1:p.(Arg286Ter)	NC_000001.10:g.168274374C>T	(Likely) pathogenic	1 lab	a0c629e5bf
6:76572388 MYO6 AAC>A	6	76572388	76572392	AAC	A	MYO6	c.1625_1626del	NM_004999.4	NP_004990.3:p.(His542LeufsTer22)	NC_000006.11:g.76572391_76572392del	(Likely) pathogenic	1 lab	a0c78a482c
8:17794810 PCM1 C>T	8	17794810	17794810	C	T	PCM1	c.264C>T	NM_006197.3	NP_006188.3:p.(Tyr88=)	NC_000008.10:g.17794810C>T	(Likely) benign	1 lab	a0c7fd5b35
1:152283549 FLG G>A	1	152283549	152283549	G	A	FLG	c.3813C>T	NM_002016.1	NP_002007.1:p.(Ser1271=)	NC_000001.10:g.152283549G>A	(Likely) benign	1 lab	a0cac2835d
16:5127504 ALG1 C>T	16	5127504	5127504	C	T	ALG1	c.598C>T	NM_019109.4	NP_061982.3:p.(Arg200Ter)	NC_000016.9:g.5127504C>T	VUS	1 lab	a0cbf36522
14:45645784 FANCM C>T	14	45645784	45645784	C	T	FANCM	c.3827C>T	NM_020937.2	NP_065988.1:p.(Ser1276Leu)	NC_000014.8:g.45645784C>T	(Likely) benign	1 lab	a0cc6e2ee0
3:52867732 MUSTN1 G>A	3	52867732	52867732	G	A	MUSTN1	c.43C>T	NM_205853.4	NP_995325.4:p.(Arg15Cys)	NC_000003.11:g.52867732G>A	VUS	1 lab	a0cc947e76
14:50585292 SOS2 T>C	14	50585292	50585292	T	C	SOS2	c.3769A>G	NM_006939.3	NP_008870.2:p.(Asn1257Asp)	NC_000014.8:g.50585292T>C	(Likely) benign	1 lab	a0cd7ca72c
17:78092158 GAA T>A	17	78092158	78092158	T	A	GAA	c.2646+2T>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78092158T>A	(Likely) pathogenic	1 lab	a0cdd30742
X:77126395 MAGT1 C>T	X	77126395	77126395	C	T	MAGT1	c.396G>A	NM_032121.5	NP_115497.4:p.(Leu132=)	NC_000023.10:g.77126395C>T	(Likely) benign	1 lab	a0ce7fdb18
20:39980761 LPIN3 C>T	20	39980761	39980761	C	T	LPIN3	c.1267C>T	NM_001301860.1	NP_001288789.1:p.(Pro423Ser)	NC_000020.10:g.39980761C>T	(Likely) benign	1 lab	a0cfe203c6
3:167512395 SERPINI1 ATTTTCTT>A	3	167512395	167512405	ATTTTCTT	A	SERPINI1	c.677-9_677-3del	NM_001122752.2	NP_001116224.1:p.?	NC_000003.11:g.167512399_167512405del	VUS	1 lab	a0d19fc477
19:50920444 POLD1 G>T	19	50920444	50920444	G	T	POLD1	c.3214G>T	NM_001308632.1	NP_001295561.1:p.(Ala1072Ser)	NC_000019.9:g.50920444G>T	(Likely) benign	1 lab	a0d4207933
1:3761857 CEP104 T>C	1	3761857	3761857	T	C	CEP104	c.485A>G	NM_014704.3	NP_055519.1:p.(Asn162Ser)	NC_000001.10:g.3761857T>C	VUS	1 lab	a0d863e619
X:79937520 BRWD3 T>C	X	79937520	79937520	T	C	BRWD3	c.4471A>G	NM_153252.4	NP_694984.4:p.(Thr1491Ala)	NC_000023.10:g.79937520T>C	(Likely) benign	1 lab	a0d86c7fea
16:2120494 TSC2 G>A	16	2120494	2120494	G	A	TSC2	c.1754G>A	NM_000548.3	NP_000539.2:p.(Arg585His)	NC_000016.9:g.2120494G>A	VUS	1 lab	a0da8ebc89
13:114434306 GRK1 G>A	13	114434306	114434306	G	A	GRK1	c.1184G>A	NM_002929.3	NP_002920.1:p.(Arg395His)	NC_000013.10:g.114434306G>A	VUS	1 lab	a0dccd668d
21:34726076 IFNAR1 C>T	21	34726076	34726076	C	T	IFNAR1	c.1427C>T	NM_000629.3	NP_000620.2:p.(Ser476Phe)	NC_000021.8:g.34726076C>T	(Likely) benign	1 lab	a0de5c4c6b
3:46900983 MYL3 G>A	3	46900983	46900983	G	A	MYL3	c.463C>T	NM_000258.2	NP_000249.1:p.(His155Tyr)	NC_000003.11:g.46900983G>A	(Likely) pathogenic	1 lab	a0e0350484
13:26148987 ATP8A2 A>G	13	26148987	26148987	A	G	ATP8A2	c.1704A>G	NM_016529.5	NP_057613.4:p.(Glu568=)	NC_000013.10:g.26148987A>G	(Likely) benign	1 lab	a0e313738c
20:2384037 TGM6 T>C	20	2384037	2384037	T	C	TGM6	c.990-6T>C	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2384037T>C	(Likely) benign	1 lab	a0e503bf33
3:129200494 IFT122 C>T	3	129200494	129200494	C	T	IFT122	c.1763C>T	NM_052985.3	NP_443711.2:p.(Thr588Ile)	NC_000003.11:g.129200494C>T	VUS	1 lab	a0e536ebcb
3:142278234 ATR C>T	3	142278234	142278234	C	T	ATR	c.1591G>A	NM_001184.3	NP_001175.2:p.(Val531Met)	NC_000003.11:g.142278234C>T	(Likely) benign	1 lab	a0e7c49c09
1:27875084 AHDC1 C>G	1	27875084	27875084	C	G	AHDC1	c.3543G>C	NM_001029882.3	NP_001025053.1:p.(Gly1181=)	NC_000001.10:g.27875084C>G	(Likely) benign	1 lab	a0e7d10c08
16:2329098 ABCA3 C>T	16	2329098	2329098	C	T	ABCA3	c.4393G>A	NM_001089.2	NP_001080.2:p.(Asp1465Asn)	NC_000016.9:g.2329098C>T	VUS	1 lab	a0e82da096
X:142717788 SLITRK4 C>T	X	142717788	142717788	C	T	SLITRK4	c.1137G>A	NM_001184749.3	NP_001171678.1:p.(Ala379=)	NC_000023.10:g.142717788C>T	(Likely) benign	1 lab	a0eba61828
5:33947267 SLC45A2 C>A	5	33947267	33947267	C	A	SLC45A2	c.1369G>T	NM_001012509.3	NP_001012527.1:p.(Val457Leu)	NC_000005.9:g.33947267C>A	VUS	1 lab	a0efb497a9
6:31595882 PRRC2A C>A	6	31595882	31595882	C	A	PRRC2A	c.1631C>A	NM_004638.3	NP_004629.3:p.(Thr544Lys)	NC_000006.11:g.31595882C>A	(Likely) benign	1 lab	a0f15ce3e2
1:16477403 EPHA2 C>T	1	16477403	16477403	C	T	EPHA2	c.141G>A	NM_004431.4	NP_004422.2:p.(Pro47=)	NC_000001.10:g.16477403C>T	(Likely) benign	1 lab	a0f279bffe
12:133248880 POLE T>C	12	133248880	133248880	T	C	POLE	c.1715A>G	NM_006231.3	NP_006222.2:p.(Gln572Arg)	NC_000012.11:g.133248880T>C	VUS	1 lab	a0f3ee56a6
15:91290665 BLM C>T	15	91290665	91290665	C	T	BLM	c.43C>T	NM_001287246.1	NP_001274175.1:p.(Arg15Cys)	NC_000015.9:g.91290665C>T	VUS	1 lab	a0f458af28
12:2224615 CACNA1C A>G	12	2224615	2224615	A	G	CACNA1C	c.275A>G	NM_199460.3	NP_955630.3:p.(Gln92Arg)	NC_000012.11:g.2224615A>G	(Likely) benign	1 lab	a0f5aa08fd
1:33563623 AZIN2 C>T	1	33563623	33563623	C	T	AZIN2	c.932C>T	NM_001301825.1	NP_001288754.1:p.(Pro311Leu)	NC_000001.10:g.33563623C>T	VUS	1 lab	a0f6a53a8b
5:172661804 NKX2-5 G>T	5	172661804	172661804	G	T	NKX2-5	c.283C>A	NM_001166175.1	NP_001159647.1:p.(Arg95Ser)	NC_000005.9:g.172661804G>T	VUS	1 lab	a0f6e89239
9:139333628 INPP5E G>A	9	139333628	139333628	G	A	INPP5E	c.244C>T	NM_019892.5	NP_063945.2:p.(Arg82Ter)	NC_000009.11:g.139333628G>A	(Likely) pathogenic	1 lab	a0f739046b
16:2134640 TSC2 A>C	16	2134640	2134640	A	C	TSC2	c.4417A>C	NM_000548.3	NP_000539.2:p.(Lys1473Gln)	NC_000016.9:g.2134640A>C	(Likely) benign	1 lab	a0f79ce788
12:118693338 TAOK3 G>T	12	118693338	118693338	G	T	TAOK3	c.35C>A	NM_016281.3	NP_057365.3:p.(Ala12Asp)	NC_000012.11:g.118693338G>T	VUS	1 lab	a0f8118aa3
10:79163747 KCNMA1 G>A	10	79163747	79163747	G	A	KCNMA1	c.413C>T	NM_001322830.1	NP_001309759.1:p.(Ala138Val)	NC_000010.10:g.79163747G>A	(Likely) benign	1 lab	a0f9b6d8c7
17:33690825 SLFN11 A>T	17	33690825	33690825	A	T	SLFN11	c.2T>A	NM_001104587.1	NP_001098057.1:p.(Met1?)	NC_000017.10:g.33690825A>T	VUS	1 lab	a0fa438356
7:5770468 RNF216 T>C	7	5770468	5770468	T	C	RNF216	c.1122-20A>G	NM_207111.3	NP_996994.1:p.?	NC_000007.13:g.5770468T>C	(Likely) benign	1 lab	a0fbc1ee60
19:55857861 KMT5C C>T	19	55857861	55857861	C	T	KMT5C	c.708-7C>T	NM_032701.4	NP_116090.2:p.?	NC_000019.9:g.55857861C>T	(Likely) benign	1 lab	a0fcdd9bf9
1:2340056 PEX10 C>T	1	2340056	2340056	C	T	PEX10	c.435G>A	NM_153818.1	NP_722540.1:p.(Met145Ile)	NC_000001.10:g.2340056C>T	(Likely) benign	1 lab	a0fd1cf5a4
7:939123 ADAP1 G>A	7	939123	939123	G	A	ADAP1	c.800C>T	NM_006869.4	NP_006860.2:p.(Thr267Met)	NC_000007.13:g.939123G>A	VUS	1 lab	a1e88e32fe
17:29586066 NF1 C>T	17	29586066	29586066	C	T	NF1	c.4286C>T	NM_000267.3	NP_000258.1:p.(Ala1429Val)	NC_000017.10:g.29586066C>T	(Likely) pathogenic	1 lab	a100b1f225
2:128390878 MYO7B C>T	2	128390878	128390878	C	T	MYO7B	c.5373C>T	NM_001080527.1	NP_001073996.1:p.(Ala1791=)	NC_000002.11:g.128390878C>T	(Likely) benign	1 lab	a1010de09a
15:40093625 GPR176 G>A	15	40093625	40093625	G	A	GPR176	c.1256C>T	NM_007223.2	NP_009154.1:p.(Ala419Val)	NC_000015.9:g.40093625G>A	(Likely) benign	1 lab	a1014d4d11
13:39264645 FREM2 T>A	13	39264645	39264645	T	A	FREM2	c.3164T>A	NM_207361.5	NP_997244.4:p.(Ile1055Lys)	NC_000013.10:g.39264645T>A	VUS	1 lab	a103c7f7f8
19:861842 CFD G>C	19	861842	861842	G	C	CFD	c.501G>C	NM_001928.2	NP_001919.2:p.(Gln167His)	NC_000019.9:g.861842G>C	(Likely) benign	1 lab	a105f89439
3:53757847 CACNA1D G>A	3	53757847	53757847	G	A	CACNA1D	c.1921G>A	NM_001128840.3	NP_001122312.1:p.(Ala641Thr)	NC_000003.11:g.53757847G>A	VUS	1 lab	a107e38d1d
3:123452711 MYLK G>C	3	123452711	123452711	G	C	MYLK	c.1132C>G	NM_053025.3	NP_444253.3:p.(Arg378Gly)	NC_000003.11:g.123452711G>C	(Likely) benign	1 lab	a107f812fc
21:28214229 ADAMTS1 G>A	21	28214229	28214229	G	A	ADAMTS1	c.1158C>T	NM_006988.5	NP_008919.3:p.(Ser386=)	NC_000021.8:g.28214229G>A	(Likely) benign	1 lab	a1088d924f
6:35420577 FANCE C>A	6	35420577	35420577	C	A	FANCE	c.248+7C>A	NM_021922.2	NP_068741.1:p.?	NC_000006.11:g.35420577C>A	(Likely) benign	1 lab	a108fe5158
8:12947789 DLC1 G>A	8	12947789	12947789	G	A	DLC1	c.4046C>T	NM_182643.2	NP_872584.2:p.(Ser1349Leu)	NC_000008.10:g.12947789G>A	(Likely) benign	1 lab	a109b10c7d
14:31349926 COCH C>T	14	31349926	31349926	C	T	COCH	c.810C>T	NM_001347720.1	NP_001334649.1:p.(Gly270=)	NC_000014.8:g.31349926C>T	(Likely) benign	1 lab	a109c085f8
13:39422629 FREM2 T>A	13	39422629	39422629	T	A	FREM2	c.6201T>A	NM_207361.5	NP_997244.4:p.(Asn2067Lys)	NC_000013.10:g.39422629T>A	VUS	1 lab	a109eed6ce
4:88534241 DSPP T>G	4	88534241	88534241	T	G	DSPP	c.903T>G	NM_014208.3	NP_055023.2:p.(Ser301Arg)	NC_000004.11:g.88534241T>G	VUS	1 lab	a10a13922a
17:71201807 COG1 A>C	17	71201807	71201807	A	C	COG1	c.2498A>C	NM_018714.2	NP_061184.1:p.(Lys833Thr)	NC_000017.10:g.71201807A>C	(Likely) benign	1 lab	a10b1efc16
14:39818035 MIA2 G>A	14	39818035	39818035	G	A	MIA2	c.3926G>A	NM_001329214.2	NP_001316143.1:p.(Gly1309Asp)	NC_000014.8:g.39818035G>A	VUS	1 lab	a10cd5a29a
14:102894582 TECPR2 G>A	14	102894582	102894582	G	A	TECPR2	c.952-5G>A	NM_014844.4	NP_055659.2:p.?	NC_000014.8:g.102894582G>A	(Likely) benign	1 lab	a1103e4813
16:2105522 TSC2 T>G	16	2105522	2105522	T	G	TSC2	c.599+2T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105522T>G	(Likely) pathogenic	1 lab	fd6157d592
17:29554552 NF1 TAC>CAA	17	29554552	29554554	TAC	CAA	NF1	c.2337_2339delinsCAA	NM_000267.3	NP_000258.1:p.(Thr780Lys)	NC_000017.10:g.29554552_29554554delinsCAA	(Likely) pathogenic	1 lab	a1117b1fcc
19:17057960 MISSING C>A	19	17057960	17057960	C	A	MISSING				NC_000019.9:g.17057960C>A	(Likely) benign	1 lab	a1129569f4
5:137894234 HSPA9 TA>T	5	137894234	137894236	TA	T	HSPA9	c.1515+7del	NM_004134.7	NP_004125.3:p.?	NC_000005.9:g.137894236del	(Likely) benign	1 lab	a112f03eea
17:29556142 NF1 T>C	17	29556142	29556142	T	C	NF1	c.2509T>C	NM_000267.3	NP_000258.1:p.(Trp837Arg)	NC_000017.10:g.29556142T>C	(Likely) pathogenic	1 lab	a11574a38b
16:2135308 TSC2 T>A	16	2135308	2135308	T	A	TSC2	c.4647T>A	NM_000548.3	NP_000539.2:p.(Tyr1549Ter)	NC_000016.9:g.2135308T>A	(Likely) pathogenic	1 lab	a11647eb06
6:111628771 REV3L G>T	6	111628771	111628771	G	T	REV3L	c.8811C>A	NM_001286431.1	NP_001273360.1:p.(Ile2937=)	NC_000006.11:g.111628771G>T	(Likely) benign	1 lab	a11dd0b7c6
1:40555083 PPT1 G>A	1	40555083	40555083	G	A	PPT1	c.535C>T	NM_000310.3	NP_000301.1:p.(Arg179Cys)	NC_000001.10:g.40555083G>A	VUS	1 lab	a11e4ef500
16:16284162 ABCC6 C>T	16	16284162	16284162	C	T	ABCC6	c.1494G>A	NM_001171.5	NP_001162.4:p.(Ser498=)	NC_000016.9:g.16284162C>T	(Likely) benign	1 lab	a11ec19550
1:227081850 PSEN2 G>A	1	227081850	227081850	G	A	PSEN2	c.1191+24G>A	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227081850G>A	(Likely) benign	1 lab	a11f77624f
19:49611140 SNRNP70 C>T	19	49611140	49611140	C	T	SNRNP70	c.754C>T	NM_003089.6	NP_003080.2:p.(Arg252Ter)	NC_000019.9:g.49611140C>T	VUS	1 lab	a11fca35ae
10:55700623 PCDH15 C>A	10	55700623	55700623	C	A	PCDH15				NC_000010.10:g.55700623C>A	(Likely) benign	1 lab	a12031d89e
5:73207116 ARHGEF28 G>A	5	73207116	73207116	G	A	ARHGEF28	c.4664G>A	NM_001080479.2	NP_001073948.2:p.(Arg1555Gln)	NC_000005.9:g.73207116G>A	(Likely) benign	1 lab	a121d6f6dd
1:226125171 LEFTY2 C>A	1	226125171	226125171	C	A	LEFTY2	c.1071G>T	NM_003240.4	NP_003231.2:p.(Gly357=)	NC_000001.10:g.226125171C>A	(Likely) benign	1 lab	a122432426
13:23929941 SACS A>C	13	23929941	23929941	A	C	SACS	c.810T>G	NM_014363.5	NP_055178.3:p.(Phe270Leu)	NC_000013.10:g.23929941A>C	(Likely) benign	1 lab	a12289660b
16:72993097 ZFHX3 A>G	16	72993097	72993097	A	G	ZFHX3	c.948T>C	NM_006885.3	NP_008816.3:p.(Ile316=)	NC_000016.9:g.72993097A>G	(Likely) benign	1 lab	a122cf9c1d
7:117199602 CFTR C>T	7	117199602	117199602	C	T	CFTR	c.1477C>T	NM_000492.3	NP_000483.3:p.(Gln493Ter)	NC_000007.13:g.117199602C>T	(Likely) pathogenic	1 lab	a123d91f54
9:71650829 FXN C>A	9	71650829	71650829	C	A	FXN	c.131C>A	NM_181425.2	NP_852090.1:p.(Thr44Asn)	NC_000009.11:g.71650829C>A	(Likely) benign	1 lab	a1244a57ac
15:66995938 SMAD6 C>T	15	66995938	66995938	C	T	SMAD6	c.342C>T	NM_005585.4	NP_005576.3:p.(Gly114=)	NC_000015.9:g.66995938C>T	(Likely) benign	1 lab	a124b5b1ca
19:9003357 MUC16 T>C	19	9003357	9003357	T	C	MUC16	c.40078A>G	NM_024690.2	NP_078966.2:p.(Met13360Val)	NC_000019.9:g.9003357T>C	VUS	1 lab	a1256da910
18:43534628 EPG5 G>A	18	43534628	43534628	G	A	EPG5	c.740C>T	NM_020964.3	NP_066015.2:p.(Pro247Leu)	NC_000018.9:g.43534628G>A	(Likely) benign	1 lab	a126c977bc
22:38877254 KDELR3 C>T	22	38877254	38877254	C	T	KDELR3	c.389C>T	NM_006855.4	NP_006846.1:p.(Ala130Val)	NC_000022.10:g.38877254C>T	VUS	1 lab	a127d37cda
19:11361542 DOCK6 GC>G	19	11361542	11361543	GC	G	DOCK6	c.720+7del	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11361543del	(Likely) benign	1 lab	a129172f28
2:179579289 TTN A>T	2	179579289	179579289	A	T	TTN	c.26212T>A	NM_001267550.1	NP_001254479.1:p.(Phe8738Ile)	NC_000002.11:g.179579289A>T	VUS	1 lab	a1295859ac
14:23889399 MYH7 G>T	14	23889399	23889399	G	T	MYH7	c.3381C>A	NM_000257.2	NP_000248.2:p.(Thr1127=)	NC_000014.8:g.23889399G>T	VUS	1 lab	a12a8a7b0c
17:29552217 NF1 A>ACTACGTACTCCTGGAGCCT	17	29552217	29552238	A	ACTACGTACTCCTGGAGCCT	NF1	c.1953_1971dup	NM_000267.3	NP_000258.1:p.(Leu658ThrfsTer18)	NC_000017.10:g.29552220_29552238dup	(Likely) pathogenic	1 lab	a12af1882a
17:26857825 FOXN1 A>T	17	26857825	26857825	A	T	FOXN1	c.889A>T	NM_003593.2	NP_003584.2:p.(Ile297Phe)	NC_000017.10:g.26857825A>T	VUS	1 lab	a12c56ce5a
15:33991938 RYR3 C>T	15	33991938	33991938	C	T	RYR3	c.6283C>T	NM_001036.4	NP_001027.3:p.(Arg2095Cys)	NC_000015.9:g.33991938C>T	VUS	1 lab	a12c698b28
2:179399964 TTN T>A	2	179399964	179399964	T	A	TTN	c.101378A>T	NM_001267550.1	NP_001254479.1:p.(Asp33793Val)	NC_000002.11:g.179399964T>A	VUS	1 lab	a12e9f89b4
7:24742438 GSDME C>T	7	24742438	24742438	C	T	GSDME	c.1198G>A	NM_004403.2	NP_004394.1:p.(Ala400Thr)	NC_000007.13:g.24742438C>T	(Likely) benign	1 lab	a130c4fb1e
X:2878462 ARSL C>G	X	2878462	2878462	C	G	ARSL	c.-231-1G>C	NM_001282628.1	NP_001269557.1:p.?	NC_000023.10:g.2878462C>G	VUS	1 lab	a132229f3a
16:16345954 NOMO3 T>C	16	16345954	16345954	T	C	NOMO3	c.870T>C	NM_001004067.4	NP_001004067.1:p.(Thr290=)	NC_000016.9:g.16345954T>C	(Likely) benign	1 lab	a135955090
11:64597471 CDC42BPG C>T	11	64597471	64597471	C	T	CDC42BPG	c.3439G>A	NM_017525.3	NP_059995.2:p.(Val1147Met)	NC_000011.9:g.64597471C>T	VUS	1 lab	a13614a7c0
1:3334475 PRDM16 C>A	1	3334475	3334475	C	A	PRDM16	c.2775C>A	NM_022114.3	NP_071397.3:p.(Leu925=)	NC_000001.10:g.3334475C>A	(Likely) benign	1 lab	a136d2bcef
2:48982622 LHCGR C>G	2	48982622	48982622	C	G	LHCGR	c.161+28G>C	NM_000233.3	NP_000224.2:p.?	NC_000002.11:g.48982622C>G	(Likely) benign	1 lab	a138e92334
14:24879337 NYNRIN C>T	14	24879337	24879337	C	T	NYNRIN	c.2337C>T	NM_025081.3	NP_079357.2:p.(Phe779=)	NC_000014.8:g.24879337C>T	(Likely) benign	1 lab	a13929e959
10:88478625 LDB3 T>C	10	88478625	88478625	T	C	LDB3	c.1978+21T>C	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88478625T>C	(Likely) benign	1 lab	a139866772
X:149639212 MAMLD1 C>A	X	149639212	149639212	C	A	MAMLD1	c.1367C>A	NM_005491.4	NP_005482.2:p.(Pro456Gln)	NC_000023.10:g.149639212C>A	VUS	1 lab	a13c3d664c
20:32341107 ZNF341 C>G	20	32341107	32341107	C	G	ZNF341	c.619C>G	NM_001282933.1	NP_001269862.1:p.(Pro207Ala)	NC_000020.10:g.32341107C>G	(Likely) benign	1 lab	a13ccccdb5
22:50903559 SBF1 C>T	22	50903559	50903559	C	T	SBF1	c.1204-1G>A	NM_002972.3	NP_002963.2:p.?	NC_000022.10:g.50903559C>T	VUS	1 lab	a13cd5f798
20:19951580 RIN2 G>A	20	19951580	19951580	G	A	RIN2	c.775+7G>A	NM_001242581.1	NP_001229510.1:p.?	NC_000020.10:g.19951580G>A	(Likely) benign	1 lab	a13ea686a5
19:45871954 ERCC2 C>G	19	45871954	45871954	C	G	ERCC2	c.294G>C	NM_000400.3	NP_000391.1:p.(Glu98Asp)	NC_000019.9:g.45871954C>G	(Likely) benign	1 lab	a13f56497e
X:47030504 RBM10 G>A	X	47030504	47030504	G	A	RBM10	c.474G>A	NM_001204468.1	NP_001191397.1:p.(Pro158=)	NC_000023.10:g.47030504G>A	(Likely) benign	1 lab	a13f6d5069
11:17531284 USH1C G>T	11	17531284	17531284	G	T	USH1C	c.1632C>A	NM_153676.3	NP_710142.1:p.(Asp544Glu)	NC_000011.9:g.17531284G>T	(Likely) benign	1 lab	a13fddc01b
9:117846677 TNC G>T	9	117846677	117846677	G	T	TNC	c.1942C>A	NM_002160.3	NP_002151.2:p.(Arg648=)	NC_000009.11:g.117846677G>T	(Likely) benign	1 lab	a1400bc4c2
16:24918424 SLC5A11 C>T	16	24918424	24918424	C	T	SLC5A11	c.1001C>T	NM_001352249.1	NP_001339178.1:p.(Thr334Ile)	NC_000016.9:g.24918424C>T	VUS	1 lab	a141af270e
16:2129165 TSC2 C>A	16	2129165	2129165	C	A	TSC2	c.3099C>A	NM_000548.3	NP_000539.2:p.(Tyr1033Ter)	NC_000016.9:g.2129165C>A	(Likely) pathogenic	1 lab	a1429ef4dc
11:76858979 MYO7A C>T	11	76858979	76858979	C	T	MYO7A	c.268C>T	NM_000260.3	NP_000251.3:p.(Arg90Trp)	NC_000011.9:g.76858979C>T	VUS	1 lab	a1445ed762
14:21862062 CHD8 A>C	14	21862062	21862062	A	C	CHD8	c.5892T>G	NM_001170629.1	NP_001164100.1:p.(Tyr1964Ter)	NC_000014.8:g.21862062A>C	(Likely) pathogenic	1 lab	a14a3f8f56
16:79632749 MAF A>G	16	79632749	79632749	A	G	MAF	c.1051T>C	NM_001031804.2	NP_001026974.1:p.(Leu351=)	NC_000016.9:g.79632749A>G	(Likely) benign	1 lab	a14b141454
15:41988800 MGA G>C	15	41988800	41988800	G	C	MGA	c.1592G>C	NM_001164273.1	NP_001157745.1:p.(Arg531Thr)	NC_000015.9:g.41988800G>C	(Likely) benign	1 lab	a14c4ea3d1
17:11684439 DNAH9 G>A	17	11684439	11684439	G	A	DNAH9	c.7666G>A	NM_001372.3	NP_001363.2:p.(Gly2556Arg)	NC_000017.10:g.11684439G>A	VUS	1 lab	a14d6e6f4e
X:44936052 KDM6A C>T	X	44936052	44936052	C	T	KDM6A	c.2969C>T	NM_001291415.1	NP_001278344.1:p.(Pro990Leu)	NC_000023.10:g.44936052C>T	(Likely) pathogenic	1 lab	a151f2b95c
20:10621808 JAG1 C>T	20	10621808	10621808	C	T	JAG1	c.3001G>A	NM_000214.3	NP_000205.1:p.(Ala1001Thr)	NC_000020.10:g.10621808C>T	(Likely) benign	1 lab	a1524b08b1
17:8021431 ALOXE3 G>A	17	8021431	8021431	G	A	ALOXE3	c.-123C>T	NM_021628.3	NP_067641.2:p.?	NC_000017.10:g.8021431G>A	VUS	1 lab	002661f33a
16:89348819 ANKRD11 G>A	16	89348819	89348819	G	A	ANKRD11	c.4131C>T	NM_001256182.1	NP_001243111.1:p.(Gly1377=)	NC_000016.9:g.89348819G>A	(Likely) benign	1 lab	a1527285ab
16:56872910 NUP93 T>A	16	56872910	56872910	T	A	NUP93	c.1696T>A	NM_001242795.1	NP_001229724.1:p.(Phe566Ile)	NC_000016.9:g.56872910T>A	VUS	1 lab	a152977660
X:24746028 POLA1 A>G	X	24746028	24746028	A	G	POLA1	c.1661A>G	NM_001330360.1	NP_001317289.1:p.(Gln554Arg)	NC_000023.10:g.24746028A>G	VUS	1 lab	a152a48423
5:68728438 MARVELD2 C>T	5	68728438	68728438	C	T	MARVELD2	c.1267C>T	NM_001038603.2	NP_001033692.2:p.(Leu423=)	NC_000005.9:g.68728438C>T	(Likely) benign	1 lab	a1542ed3f2
15:89860620 POLG G>A	15	89860620	89860620	G	A	POLG	c.3630C>T	NM_002693.2	NP_002684.1:p.(Tyr1210=)	NC_000015.9:g.89860620G>A	(Likely) benign	1 lab	a1544dc484
X:2761388 GYG2 C>G	X	2761388	2761388	C	G	GYG2	c.235C>G	NM_003918.2	NP_003909.2:p.(Leu79Val)	NC_000023.10:g.2761388C>G	(Likely) benign	1 lab	a15487c529
X:153174908 ARHGAP4 C>G	X	153174908	153174908	C	G	ARHGAP4	c.2616G>C	NM_001164741.1	NP_001158213.1:p.(Glu872Asp)	NC_000023.10:g.153174908C>G	VUS	1 lab	a1579adf06
4:88537258 DSPP T>C	4	88537258	88537258	T	C	DSPP	c.3444T>C	NM_014208.3	NP_055023.2:p.(Ser1148=)	NC_000004.11:g.88537258T>C	(Likely) benign	1 lab	a15858e95e
17:61678640 TACO1 C>G	17	61678640	61678640	C	G	TACO1	c.198C>G	NM_016360.3	NP_057444.2:p.(Val66=)	NC_000017.10:g.61678640C>G	VUS	1 lab	a15a8c6f6e
19:46269127 SIX5 A>G	19	46269127	46269127	A	G	SIX5	c.1852T>C	NM_175875.4	NP_787071.2:p.(Ser618Pro)	NC_000019.9:g.46269127A>G	(Likely) benign	1 lab	a15ce5e606
21:18966552 BTG3 A>C	21	18966552	18966552	A	C	BTG3	c.750T>G	NM_001130914.1	NP_001124386.1:p.(Pro250=)	NC_000021.8:g.18966552A>C	(Likely) benign	1 lab	a15ce74135
7:73442537 ELN C>T	7	73442537	73442537	C	T	ELN	c.20C>T	NM_001278939.1	NP_001265868.1:p.(Ala7Val)	NC_000007.13:g.73442537C>T	(Likely) benign	1 lab	a15d7729b0
20:10620474 JAG1 T>C	20	10620474	10620474	T	C	JAG1	c.3329A>G	NM_000214.3	NP_000205.1:p.(Asn1110Ser)	NC_000020.10:g.10620474T>C	(Likely) benign	1 lab	a163ea948d
14:105416579 AHNAK2 A>G	14	105416579	105416579	A	G	AHNAK2	c.5209T>C	NM_138420.3	NP_612429.2:p.(Phe1737Leu)	NC_000014.8:g.105416579A>G	(Likely) benign	1 lab	a16481b2ff
X:118971818 UPF3B C>A	X	118971818	118971818	C	A	UPF3B	c.1204G>T	NM_080632.2	NP_542199.1:p.(Asp402Tyr)	NC_000023.10:g.118971818C>A	VUS	1 lab	a16a282343
17:56293439 MKS1 A>G	17	56293439	56293439	A	G	MKS1	c.417+10T>C	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56293439A>G	(Likely) benign	1 lab	a16f35522d
11:118531377 TREH G>A	11	118531377	118531377	G	A	TREH	c.973C>T	NM_007180.2	NP_009111.2:p.(Arg325Cys)	NC_000011.9:g.118531377G>A	VUS	1 lab	a17001856b
17:29664534 NF1 T>G	17	29664534	29664534	T	G	NF1	c.6513T>G	NM_000267.3	NP_000258.1:p.(Tyr2171Ter)	NC_000017.10:g.29664534T>G	(Likely) pathogenic	1 lab	a170d01a2f
16:15812196 MYH11 G>T	16	15812196	15812196	G	T	MYH11	c.5292C>A	NM_001040113.1	NP_001035202.1:p.(Asp1764Glu)	NC_000016.9:g.15812196G>T	(Likely) benign	1 lab	a172668d81
17:48650482 CACNA1G A>G	17	48650482	48650482	A	G	CACNA1G	c.1140+8A>G	NM_018896.4	NP_061496.2:p.?	NC_000017.10:g.48650482A>G	(Likely) benign	1 lab	a172e36ad5
3:123009976 ADCY5 A>T	3	123009976	123009976	A	T	ADCY5	c.3311T>A	NM_183357.2	NP_899200.1:p.(Ile1104Asn)	NC_000003.11:g.123009976A>T	VUS	1 lab	a174381701
7:21723573 DNAH11 A>T	7	21723573	21723573	A	T	DNAH11				NC_000007.13:g.21723573A>T	(Likely) benign	1 lab	bde237ab0a
1:155686826 DAP3 G>T	1	155686826	155686826	G	T	DAP3	c.75G>T	NM_001199849.1	NP_001186778.1:p.(Gly25=)	NC_000001.10:g.155686826G>T	(Likely) benign	1 lab	a175b06c84
16:3900336 CREBBP C>T	16	3900336	3900336	C	T	CREBBP	c.760G>A	NM_004380.2	NP_004371.2:p.(Ala254Thr)	NC_000016.9:g.3900336C>T	(Likely) benign	1 lab	a1775665bd
2:241680789 KIF1A C>T	2	241680789	241680789	C	T	KIF1A	c.3646G>A	NM_001244008.1	NP_001230937.1:p.(Ala1216Thr)	NC_000002.11:g.241680789C>T	VUS	1 lab	a17a5f8676
2:44566329 PREPL T>G	2	44566329	44566329	T	G	PREPL	c.926A>C	NM_006036.4	NP_006027.2:p.(Glu309Ala)	NC_000002.11:g.44566329T>G	VUS	1 lab	a17c13b4c4
X:83403069 RPS6KA6 T>A	X	83403069	83403069	T	A	RPS6KA6	c.321A>T	NM_001330512.1	NP_001317441.1:p.(Leu107Phe)	NC_000023.10:g.83403069T>A	VUS	1 lab	a181725daf
19:43382232 PSG1 A>C	19	43382232	43382232	A	C	PSG1	c.263T>G	NM_006905.2	NP_008836.2:p.(Ile88Arg)	NC_000019.9:g.43382232A>C	(Likely) benign	1 lab	a182915807
X:53223863 KDM5C G>A	X	53223863	53223863	G	A	KDM5C	c.3496C>T	NM_004187.3	NP_004178.2:p.(Arg1166Cys)	NC_000023.10:g.53223863G>A	VUS	1 lab	a1836e4ea1
19:41354521 CYP2A6 C>T	19	41354521	41354521	C	T	CYP2A6	c.491G>A	NM_000762.5	NP_000753.3:p.(Gly164Asp)	NC_000019.9:g.41354521C>T	VUS	1 lab	a1837c458d
8:61773657 CHD7 C>G	8	61773657	61773657	C	G	CHD7				NC_000008.10:g.61773657C>G	(Likely) pathogenic	1 lab	a183d470e5
9:69256810 ZNG1F G>A	9	69256810	69256810	G	A	ZNG1F	c.321C>T	NM_001085457.1	NP_001078926.1:p.(Cys107=)	NC_000009.11:g.69256810G>A	(Likely) benign	1 lab	a1843c5aa6
6:86350197 SYNCRIP T>C	6	86350197	86350197	T	C	SYNCRIP	c.234A>G	NM_001159677.1	NP_001153149.1:p.(Gln78=)	NC_000006.11:g.86350197T>C	(Likely) benign	1 lab	a1860b8dca
18:42530786 SETBP1 T>C	18	42530786	42530786	T	C	SETBP1	c.1481T>C	NM_015559.3	NP_056374.2:p.(Val494Ala)	NC_000018.9:g.42530786T>C	(Likely) benign	1 lab	a1869e68a4
X:153171702 AVPR2 C>T	X	153171702	153171702	C	T	AVPR2	c.742C>T	NM_001146151.2	NP_001139623.1:p.(Arg248Cys)	NC_000023.10:g.153171702C>T	VUS	1 lab	a18c1ce589
17:29560172 NF1 G>T	17	29560172	29560172	G	T	NF1	c.3649G>T	NM_000267.3	NP_000258.1:p.(Asp1217Tyr)	NC_000017.10:g.29560172G>T	(Likely) pathogenic	1 lab	a18c9c3612
9:332451 DOCK8 G>A	9	332451	332451	G	A	DOCK8	c.1098G>A	NM_203447.3	NP_982272.2:p.(Thr366=)	NC_000009.11:g.332451G>A	(Likely) benign	1 lab	a18f478470
10:90707140 ACTA2 C>T	10	90707140	90707140	C	T	ACTA2	c.133G>A	NM_001613.2	NP_001604.1:p.(Val45Met)	NC_000010.10:g.90707140C>T	VUS	1 lab	a18f770cc4
1:185972874 HMCN1 A>G	1	185972874	185972874	A	G	HMCN1	c.4373A>G	NM_031935.2	NP_114141.2:p.(Asn1458Ser)	NC_000001.10:g.185972874A>G	(Likely) benign	1 lab	a18fb037d6
18:47398527 MYO5B A>G	18	47398527	47398527	A	G	MYO5B	c.3603+10T>C	NM_001080467.2	NP_001073936.1:p.?	NC_000018.9:g.47398527A>G	(Likely) benign	1 lab	a18fe0e0cb
17:29588838 NF1 A>AAG	17	29588838	29588840	A	AAG	NF1	c.4625_4626insGA	NM_000267.3	NP_000258.1:p.(Asn1542LysfsTer12)	NC_000017.10:g.29588839_29588840insGA	(Likely) pathogenic	1 lab	a1903aa9ba
X:17745046 NHS C>T	X	17745046	17745046	C	T	NHS	c.2820C>T	NM_001291867.1	NP_001278796.1:p.(Ala940=)	NC_000023.10:g.17745046C>T	(Likely) benign	1 lab	a1957a28e7
2:109371401 RANBP2 C>T	2	109371401	109371401	C	T	RANBP2	c.2243C>T	NM_006267.4	NP_006258.3:p.(Ser748Leu)	NC_000002.11:g.109371401C>T	(Likely) benign	1 lab	a197902f82
9:139265143 CARD9 A>C	9	139265143	139265143	A	C	CARD9	c.638T>G	NM_052813.4	NP_434700.2:p.(Leu213Arg)	NC_000009.11:g.139265143A>C	VUS	1 lab	a197aab195
9:73399036 TRPM3 T>C	9	73399036	73399036	T	C	TRPM3				NC_000009.11:g.73399036T>C	VUS	1 lab	a199126307
9:137671987 COL5A1 G>A	9	137671987	137671987	G	A	COL5A1	c.2425G>A	NM_000093.4	NP_000084.3:p.(Glu809Lys)	NC_000009.11:g.137671987G>A	VUS	1 lab	a199854916
1:74905191 TNNI3K T>C	1	74905191	74905191	T	C	TNNI3K	c.1896T>C	NM_015978.2	NP_057062.1:p.(Ala632=)	NC_000001.10:g.74905191T>C	(Likely) benign	1 lab	a19a5cbb22
9:135176031 SETX C>T	9	135176031	135176031	C	T	SETX	c.5534G>A	NM_001351527.1	NP_001338456.1:p.(Arg1845His)	NC_000009.11:g.135176031C>T	VUS	1 lab	a19b0a3b0c
9:140870443 CACNA1B G>C	9	140870443	140870443	G	C	CACNA1B	c.1628G>C	NM_000718.3	NP_000709.1:p.(Arg543Pro)	NC_000009.11:g.140870443G>C	VUS	1 lab	a19b729482
2:10929868 PDIA6 G>A	2	10929868	10929868	G	A	PDIA6	c.984+7C>T	NM_001282705.1	NP_001269634.1:p.?	NC_000002.11:g.10929868G>A	(Likely) benign	1 lab	a19c531c79
20:61461950 COL9A3 C>T	20	61461950	61461950	C	T	COL9A3	c.1287+10C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61461950C>T	(Likely) benign	1 lab	a19f7da741
17:61558941 ACE G>A	17	61558941	61558941	G	A	ACE	c.960G>A	NM_000789.3	NP_000780.1:p.(Thr320=)	NC_000017.10:g.61558941G>A	(Likely) benign	1 lab	a19f8357d2
6:7566680 DSP T>C	6	7566680	7566680	T	C	DSP	c.1010T>C	NM_004415.2	NP_004406.2:p.(Val337Ala)	NC_000006.11:g.7566680T>C	VUS	1 lab	a1a0af5549
20:25057155 VSX1 C>T	20	25057155	25057155	C	T	VSX1	c.840G>A	NM_014588.5	NP_055403.2:p.(Arg280=)	NC_000020.10:g.25057155C>T	(Likely) benign	1 lab	a1a0e67e88
X:153008729 ABCD1 A>G	X	153008729	153008729	A	G	ABCD1	c.1920A>G	NM_000033.3	NP_000024.2:p.(Glu640=)	NC_000023.10:g.153008729A>G	(Likely) benign	1 lab	a1a1bafb31
3:129305095 PLXND1 G>A	3	129305095	129305095	G	A	PLXND1	c.1641C>T	NM_015103.2	NP_055918.2:p.(Ala547=)	NC_000003.11:g.129305095G>A	(Likely) benign	1 lab	a1a2d86aef
14:21769193 RPGRIP1 C>A	14	21769193	21769193	C	A	RPGRIP1	c.287C>A	NM_020366.3	NP_065099.3:p.(Pro96Gln)	NC_000014.8:g.21769193C>A	(Likely) benign	1 lab	a1a40dba65
1:237617694 RYR2 C>A	1	237617694	237617694	C	A	RYR2	c.1296C>A	NM_001035.2	NP_001026.2:p.(Gly432=)	NC_000001.10:g.237617694C>A	(Likely) benign	1 lab	a1a586be99
X:152225899 PNMA3 G>A	X	152225899	152225899	G	A	PNMA3	c.487G>A	NM_013364.5	NP_037496.4:p.(Glu163Lys)	NC_000023.10:g.152225899G>A	(Likely) benign	1 lab	a1a6f7f460
17:61916009 SMARCD2 G>T	17	61916009	61916009	G	T	SMARCD2	c.217-1024C>A	NM_001098426.1	NP_001091896.1:p.?	NC_000017.10:g.61916009G>T	(Likely) benign	1 lab	a1a7bb59a4
2:31805826 SRD5A2 C>T	2	31805826	31805826	C	T	SRD5A2	c.145G>A	NM_000348.3	NP_000339.2:p.(Ala49Thr)	NC_000002.11:g.31805826C>T	(Likely) benign	1 lab	a1a7df8c11
8:38109424 DDHD2 C>G	8	38109424	38109424	C	G	DDHD2	c.1345-6C>G	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38109424C>G	VUS	1 lab	a1a900a2c1
8:48749784 PRKDC A>G	8	48749784	48749784	A	G	PRKDC	c.7750T>C	NM_006904.6	NP_008835.5:p.(Cys2584Arg)	NC_000008.10:g.48749784A>G	VUS	1 lab	a1a98d7f03
3:186953906 MASP1 G>T	3	186953906	186953906	G	T	MASP1	c.1753C>A	NM_139125.3	NP_624302.1:p.(His585Asn)	NC_000003.11:g.186953906G>T	(Likely) benign	1 lab	a1aa657796
1:27689438 MAP3K6 G>A	1	27689438	27689438	G	A	MAP3K6	c.1046C>T	NM_004672.4	NP_004663.3:p.(Ala349Val)	NC_000001.10:g.27689438G>A	VUS	1 lab	a1ab132cca
2:175436670 WIPF1 TGAG>T	2	175436670	175436683	TGAG	T	WIPF1	c.860_862del	NM_001375834.1	NP_001362763.1:p.(Pro287del)	NC_000002.11:g.175436681_175436683del	VUS	1 lab	a1abecbd81
2:179494039 TTN G>C	2	179494039	179494039	G	C	TTN	c.44413C>G	NM_001267550.1	NP_001254479.1:p.(Pro14805Ala)	NC_000002.11:g.179494039G>C	VUS	1 lab	a1ac2e737b
4:996934 IDUA C>G	4	996934	996934	C	G	IDUA	c.1513C>G	NM_000203.5	NP_000194.2:p.(Arg505Gly)	NC_000004.11:g.996934C>G	VUS	1 lab	a1ac9984a5
17:29556174 NF1 T>TG	17	29556174	29556179	T	TG	NF1	c.2546dup	NM_000267.3	NP_000258.1:p.(Val850SerfsTer15)	NC_000017.10:g.29556179dup	(Likely) pathogenic	1 lab	a1ad209685
X:18189251 BEND2 G>A	X	18189251	18189251	G	A	BEND2	c.2055C>T	NM_153346.4	NP_699177.2:p.(Cys685=)	NC_000023.10:g.18189251G>A	(Likely) benign	1 lab	a1ad31acdd
2:196753540 DNAH7 C>A	2	196753540	196753540	C	A	DNAH7	c.5212G>T	NM_018897.3	NP_061720.2:p.(Val1738Phe)	NC_000002.11:g.196753540C>A	VUS	1 lab	a1ae5eec78
20:62327122 RTEL1 G>A	20	62327122	62327122	G	A	RTEL1	c.3823-9G>A	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62327122G>A	(Likely) benign	1 lab	a1aeca7d5b
12:79842748 SYT1 C>G	12	79842748	79842748	C	G	SYT1	c.1113C>G	NM_001135805.1	NP_001129277.1:p.(Asn371Lys)	NC_000012.11:g.79842748C>G	VUS	1 lab	a1af1bbca9
1:111146515 KCNA2 C>T	1	111146515	111146515	C	T	KCNA2	c.890G>A	NM_004974.3	NP_004965.1:p.(Arg297Gln)	NC_000001.10:g.111146515C>T	(Likely) pathogenic	1 lab	a1b22e3094
1:21036291 KIF17 C>T	1	21036291	21036291	C	T	KIF17	c.211G>A	NM_001287212.1	NP_001274141.1:p.(Val71Met)	NC_000001.10:g.21036291C>T	VUS	1 lab	a1b408fc92
14:105410379 AHNAK2 G>T	14	105410379	105410379	G	T	AHNAK2	c.11409C>A	NM_138420.3	NP_612429.2:p.(Phe3803Leu)	NC_000014.8:g.105410379G>T	(Likely) benign	1 lab	a1b4239f3c
9:135786896 TSC1 G>A	9	135786896	135786896	G	A	TSC1	c.973C>T	NM_000368.4	NP_000359.1:p.(Gln325Ter)	NC_000009.11:g.135786896G>A	(Likely) pathogenic	1 lab	a1b4fdb651
2:48026966 MSH6 G>T	2	48026966	48026966	G	T	MSH6	c.1844G>T	NM_000179.2	NP_000170.1:p.(Cys615Phe)	NC_000002.11:g.48026966G>T	VUS	1 lab	a1b5211b5f
22:32202120 DEPDC5 C>G	22	32202120	32202120	C	G	DEPDC5	c.1230C>G	NM_001242896.2	NP_001229825.1:p.(Ser410=)	NC_000022.10:g.32202120C>G	(Likely) benign	1 lab	a1b604d29c
15:31294159 TRPM1 C>T	15	31294159	31294159	C	T	TRPM1	c.4795G>A	NM_001252020.1	NP_001238949.1:p.(Val1599Met)	NC_000015.9:g.31294159C>T	(Likely) benign	1 lab	a1b65b9a0a
12:110011266 MMAB C>T	12	110011266	110011266	C	T	MMAB	c.20G>A	NM_052845.3	NP_443077.1:p.(Gly7Glu)	NC_000012.11:g.110011266C>T	(Likely) benign	1 lab	a1b7f99165
18:55373812 ATP8B1 T>C	18	55373812	55373812	T	C	ATP8B1	c.189A>G	NM_005603.6	NP_005594.2:p.(Thr63=)	NC_000018.9:g.55373812T>C	VUS	1 lab	a1ba001062
X:153599734 FLNA G>A	X	153599734	153599734	G	A	FLNA	c.-116-5C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153599734G>A	(Likely) benign	1 lab	a1ba737a33
1:94493299 ABCA4 T>C	1	94493299	94493299	T	C	ABCA4	c.4539+1702A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94493299T>C	(Likely) benign	1 lab	a1ba9e0b24
2:179404765 TTN T>C	2	179404765	179404765	T	C	TTN	c.98098+30A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179404765T>C	VUS	1 lab	a1bb0b5c6a
2:179590683 TTN G>A	2	179590683	179590683	G	A	TTN	c.20366C>T	NM_001267550.1	NP_001254479.1:p.(Pro6789Leu)	NC_000002.11:g.179590683G>A	VUS	1 lab	a1bb9db208
11:118922814 HYOU1 T>C	11	118922814	118922814	T	C	HYOU1	c.1193A>G	NM_006389.5	NP_006380.1:p.(Lys398Arg)	NC_000011.9:g.118922814T>C	(Likely) benign	1 lab	a1be401b71
X:49021637 MAGIX G>C	X	49021637	49021637	G	C	MAGIX	c.617G>C	NM_024859.3	NP_079135.3:p.(Arg206Pro)	NC_000023.10:g.49021637G>C	(Likely) benign	1 lab	a1bedf61ad
5:70797426 BDP1 T>C	5	70797426	70797426	T	C	BDP1	c.1994T>C	NM_018429.2	NP_060899.2:p.(Ile665Thr)	NC_000005.9:g.70797426T>C	(Likely) benign	1 lab	a1bee8ef21
10:26409656 MYO3A A>G	10	26409656	26409656	A	G	MYO3A	c.1828A>G	NM_017433.5	NP_059129.3:p.(Ile610Val)	NC_000010.10:g.26409656A>G	VUS	1 lab	a1bfbe98b1
1:201333596 TNNT2 TG>T	1	201333596	201333601	TG	T	TNNT2	c.412-94del	NM_001276345.2	NP_001263274.1:p.?	NC_000001.10:g.201333601del	(Likely) benign	1 lab	a1bfeaa420
13:110831279 COL4A1 C>T	13	110831279	110831279	C	T	COL4A1	c.2449G>A	NM_001845.5	NP_001836.3:p.(Gly817Arg)	NC_000013.10:g.110831279C>T	(Likely) pathogenic	1 lab	a1c010d240
22:41513389 EP300 G>A	22	41513389	41513389	G	A	EP300	c.293G>A	NM_001429.3	NP_001420.2:p.(Gly98Asp)	NC_000022.10:g.41513389G>A	VUS	1 lab	a1c133d961
11:763340 TALDO1 G>A	11	763340	763340	G	A	TALDO1	c.462-4G>A	NM_006755.1	NP_006746.1:p.?	NC_000011.9:g.763340G>A	(Likely) benign	1 lab	a1c1364437
19:12776226 MAN2B1 G>A	19	12776226	12776226	G	A	MAN2B1	c.376C>T	NM_000528.3	NP_000519.2:p.(Arg126Cys)	NC_000019.9:g.12776226G>A	VUS	1 lab	a1c1687e96
X:118145841 LONRF3 G>A	X	118145841	118145841	G	A	LONRF3	c.1716G>A	NM_001031855.2	NP_001027026.1:p.(Leu572=)	NC_000023.10:g.118145841G>A	(Likely) benign	1 lab	a1c1feed0f
3:30730013 TGFBR2 G>C	3	30730013	30730013	G	C	TGFBR2	c.1599+10G>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30730013G>C	(Likely) benign	1 lab	a1c36fa9cb
6:10830846 MAK G>A	6	10830846	10830846	G	A	MAK	c.36C>T	NM_001242957.2	NP_001229886.1:p.(Asp12=)	NC_000006.11:g.10830846G>A	(Likely) benign	1 lab	a1c4609194
X:99596959 PCDH19 A>G	X	99596959	99596959	A	G	PCDH19	c.2790T>C	NM_001184880.1	NP_001171809.1:p.(Ala930=)	NC_000023.10:g.99596959A>G	(Likely) benign	1 lab	a1c4d6e52e
21:47855960 PCNT G>A	21	47855960	47855960	G	A	PCNT	c.8895G>A	NM_006031.5	NP_006022.3:p.(Ala2965=)	NC_000021.8:g.47855960G>A	(Likely) benign	1 lab	a1c4f852cc
11:17632939 OTOG C>T	11	17632939	17632939	C	T	OTOG	c.6128C>T	NM_001277269.1	NP_001264198.1:p.(Thr2043Ile)	NC_000011.9:g.17632939C>T	VUS	1 lab	a20994982d
6:42141393 GUCA1A C>T	6	42141393	42141393	C	T	GUCA1A	c.42C>T	NM_001319061.1	NP_001305990.1:p.(Ser14=)	NC_000006.11:g.42141393C>T	(Likely) benign	1 lab	a1c9859a13
6:144507992 STX11 G>C	6	144507992	144507992	G	C	STX11	c.228G>C	NM_003764.3	NP_003755.2:p.(Met76Ile)	NC_000006.11:g.144507992G>C	(Likely) benign	1 lab	a1ca878087
22:42301656 SREBF2 G>A	22	42301656	42301656	G	A	SREBF2	c.3418G>A	NM_004599.4	NP_004590.2:p.(Ala1140Thr)	NC_000022.10:g.42301656G>A	VUS	1 lab	a1caf1262b
17:29528178 NF1 G>C	17	29528178	29528178	G	C	NF1	c.1185+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528178G>C	(Likely) pathogenic	1 lab	a1cd1c977f
12:24048832 SOX5 A>G	12	24048832	24048832	A	G	SOX5	c.126T>C	NM_152989.4	NP_694534.1:p.(His42=)	NC_000012.11:g.24048832A>G	(Likely) benign	1 lab	a1d0064162
17:62081070 ICAM2 C>T	17	62081070	62081070	C	T	ICAM2	c.583G>A	NM_001099786.1	NP_001093256.1:p.(Asp195Asn)	NC_000017.10:g.62081070C>T	VUS	1 lab	a1d1d1fca7
X:619543 SHOX G>A	X	619543	619543	G	A	SHOX	c.657G>A	NM_006883.2	NP_006874.1:p.(Pro219=)	NC_000023.10:g.619543G>A	(Likely) benign	1 lab	a1d20a2dcb
20:35128738 DLGAP4 G>A	20	35128738	35128738	G	A	DLGAP4	c.2227G>A	NM_014902.5	NP_055717.2:p.(Asp743Asn)	NC_000020.10:g.35128738G>A	(Likely) benign	1 lab	a1d48904f6
X:140985243 MAGEC3 G>T	X	140985243	140985243	G	T	MAGEC3	c.1699G>T	NM_138702.1	NP_619647.1:p.(Val567Phe)	NC_000023.10:g.140985243G>T	(Likely) benign	1 lab	a1d528798a
2:130934137 SMPD4 C>T	2	130934137	130934137	C	T	SMPD4	c.146G>A	NM_017951.4	NP_060421.2:p.(Ser49Asn)	NC_000002.11:g.130934137C>T	VUS	1 lab	a1d7665141
8:124820589 FAM91A1 A>G	8	124820589	124820589	A	G	FAM91A1	c.2110A>G	NM_144963.4	NP_659400.3:p.(Ile704Val)	NC_000008.10:g.124820589A>G	(Likely) benign	1 lab	a1d776c1f5
9:123151534 CDK5RAP2 G>C	9	123151534	123151534	G	C	CDK5RAP2	c.5662C>G	NM_018249.5	NP_060719.4:p.(Pro1888Ala)	NC_000009.11:g.123151534G>C	VUS	1 lab	a1da5111f9
21:45707010 AIRE A>G	21	45707010	45707010	A	G	AIRE				NC_000021.8:g.45707010A>G	(Likely) benign	1 lab	fdf5a9ec17
14:94041488 UNC79 G>T	14	94041488	94041488	G	T	UNC79	c.1624G>T	NM_020818.4	NP_065869.3:p.(Ala542Ser)	NC_000014.8:g.94041488G>T	VUS	1 lab	a1dacc8c14
11:126162815 TIRAP GC>G	11	126162815	126162817	GC	G	TIRAP	c.513del	NM_001318777.2	NP_001305706.1:p.(Glu172ArgfsTer63)	NC_000011.9:g.126162817del	(Likely) pathogenic	1 lab	a1dc84f6b6
18:56204932 ALPK2 T>G	18	56204932	56204932	T	G	ALPK2	c.2487A>C	NM_052947.4	NP_443179.3:p.(Lys829Asn)	NC_000018.9:g.56204932T>G	(Likely) benign	1 lab	a1df724f46
17:40696051 NAGLU G>C	17	40696051	40696051	G	C	NAGLU	c.2027G>C	NM_000263.3	NP_000254.2:p.(Arg676Pro)	NC_000017.10:g.40696051G>C	(Likely) pathogenic	1 lab	a1e173b83f
19:40419880 FCGBP G>A	19	40419880	40419880	G	A	FCGBP	c.3114C>T	NM_003890.2	NP_003881.2:p.(Pro1038=)	NC_000019.9:g.40419880G>A	(Likely) benign	1 lab	a1e4893e31
X:31089803 FTHL17 C>G	X	31089803	31089803	C	G	FTHL17	c.268G>C	NM_031894.2	NP_114100.1:p.(Glu90Gln)	NC_000023.10:g.31089803C>G	(Likely) benign	1 lab	a1e7dc73b3
19:6743550 TRIP10 G>A	19	6743550	6743550	G	A	TRIP10	c.454G>A	NM_001288962.2	NP_001275891.1:p.(Ala152Thr)	NC_000019.9:g.6743550G>A	(Likely) benign	1 lab	a1e8484838
11:17635178 OTOG C>A	11	17635178	17635178	C	A	OTOG	c.6494C>A	NM_001277269.1	NP_001264198.1:p.(Pro2165Gln)	NC_000011.9:g.17635178C>A	VUS	1 lab	a1e89b6817
17:48676971 CACNA1G A>C	17	48676971	48676971	A	C	CACNA1G	c.3441A>C	NM_018896.4	NP_061496.2:p.(Glu1147Asp)	NC_000017.10:g.48676971A>C	(Likely) benign	1 lab	a1ea4adb1b
2:62053720 FAM161A T>G	2	62053720	62053720	T	G	FAM161A	c.2021A>C	NM_001201543.1	NP_001188472.1:p.(Glu674Ala)	NC_000002.11:g.62053720T>G	VUS	1 lab	a1eb53cecd
1:27695849 FCN3 G>A	1	27695849	27695849	G	A	FCN3	c.778C>T	NM_003665.2	NP_003656.2:p.(Arg260Ter)	NC_000001.10:g.27695849G>A	VUS	1 lab	a1eb639599
3:193380707 OPA1 C>T	3	193380707	193380707	C	T	OPA1	c.2617C>T	NM_130837.2	NP_570850.2:p.(Arg873Trp)	NC_000003.11:g.193380707C>T	VUS	1 lab	a1ec2a3697
X:91133165 PCDH11X T>C	X	91133165	91133165	T	C	PCDH11X	c.1926T>C	NM_032968.4	NP_116750.1:p.(Tyr642=)	NC_000023.10:g.91133165T>C	(Likely) benign	1 lab	a1f03729dc
15:43672311 TUBGCP4 C>T	15	43672311	43672311	C	T	TUBGCP4	c.471C>T	NM_001286414.2	NP_001273343.1:p.(Val157=)	NC_000015.9:g.43672311C>T	(Likely) benign	1 lab	a1f1181d1f
20:62326703 RTEL1 C>T	20	62326703	62326703	C	T	RTEL1	c.3522C>T	NM_001283009.1	NP_001269938.1:p.(Thr1174=)	NC_000020.10:g.62326703C>T	(Likely) benign	1 lab	a1f1d68e04
17:33445567 RAD51D G>A	17	33445567	33445567	G	A	RAD51D	c.216C>T	NM_002878.3	NP_002869.3:p.(Tyr72=)	NC_000017.10:g.33445567G>A	(Likely) benign	1 lab	a1f21db611
1:235896887 LYST A>G	1	235896887	235896887	A	G	LYST	c.8717T>C	NM_000081.3	NP_000072.2:p.(Ile2906Thr)	NC_000001.10:g.235896887A>G	VUS	1 lab	a1f30eb090
12:71531790 TSPAN8 G>A	12	71531790	71531790	G	A	TSPAN8	c.387C>T	NM_004616.2	NP_004607.1:p.(Ser129=)	NC_000012.11:g.71531790G>A	(Likely) benign	1 lab	a1f55eea59
1:224345351 FBXO28 G>A	1	224345351	224345351	G	A	FBXO28	c.1010G>A	NM_015176.4	NP_055991.1:p.(Gly337Glu)	NC_000001.10:g.224345351G>A	(Likely) benign	1 lab	a1f713f23f
18:56936521 RAX C>G	18	56936521	56936521	C	G	RAX	c.756G>C	NM_013435.2	NP_038463.2:p.(Gly252=)	NC_000018.9:g.56936521C>G	(Likely) benign	1 lab	a1f723c212
15:57523465 TCF12 A>G	15	57523465	57523465	A	G	TCF12	c.685+10A>G	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57523465A>G	(Likely) benign	1 lab	a1f9e1546a
12:110778478 ATP2A2 C>T	12	110778478	110778478	C	T	ATP2A2	c.1776C>T	NM_170665.4	NP_733765.1:p.(Phe592=)	NC_000012.11:g.110778478C>T	(Likely) benign	1 lab	a1faac2ffb
15:28389228 HERC2 G>C	15	28389228	28389228	G	C	HERC2	c.11294C>G	NM_004667.5	NP_004658.3:p.(Ala3765Gly)	NC_000015.9:g.28389228G>C	VUS	1 lab	a1fb8cc840
15:62327197 VPS13C G>A	15	62327197	62327197	G	A	VPS13C	c.242C>T	NM_001018088.2	NP_001018098.1:p.(Ala81Val)	NC_000015.9:g.62327197G>A	VUS	1 lab	a1ff5b4c92
4:155412423 DCHS2 T>A	4	155412423	155412423	T	A	DCHS2	c.85A>T	NM_001358235.1	NP_001345164.1:p.(Arg29Ter)	NC_000004.11:g.155412423T>A	VUS	1 lab	a200398523
16:27629787 KATNIP T>C	16	27629787	27629787	T	C	KATNIP	c.105T>C	NM_015202.3	NP_056017.3:p.(His35=)	NC_000016.9:g.27629787T>C	(Likely) benign	1 lab	a20069bb6b
2:179439274 TTN T>C	2	179439274	179439274	T	C	TTN	c.71585A>G	NM_001267550.1	NP_001254479.1:p.(His23862Arg)	NC_000002.11:g.179439274T>C	VUS	1 lab	a2042a3dfe
16:81939028 PLCG2 A>G	16	81939028	81939028	A	G	PLCG2	c.1383A>G	NM_002661.3	NP_002652.2:p.(Arg461=)	NC_000016.9:g.81939028A>G	(Likely) benign	1 lab	a208e89422
5:10988278 CTNND2 G>A	5	10988278	10988278	G	A	CTNND2	c.3288C>T	NM_001332.3	NP_001323.1:p.(Asn1096=)	NC_000005.9:g.10988278G>A	(Likely) benign	1 lab	a20939b936
X:48935390 WDR45 G>A	X	48935390	48935390	G	A	WDR45	c.147C>T	NM_007075.3	NP_009006.2:p.(Gly49=)	NC_000023.10:g.48935390G>A	VUS	1 lab	a2098c81f7
11:66478405 SPTBN2 C>T	11	66478405	66478405	C	T	SPTBN2	c.868G>A	NM_006946.3	NP_008877.1:p.(Gly290Ser)	NC_000011.9:g.66478405C>T	VUS	1 lab	a20a594939
X:135289301 FHL1 C>T	X	135289301	135289301	C	T	FHL1	c.283C>T	NM_001159702.2	NP_001153174.1:p.(Arg95Trp)	NC_000023.10:g.135289301C>T	VUS	1 lab	a20ad8eccc
2:179422167 TTN C>T	2	179422167	179422167	C	T	TTN	c.87822G>A	NM_001267550.1	NP_001254479.1:p.(Leu29274=)	NC_000002.11:g.179422167C>T	(Likely) benign	1 lab	a20d104c4e
18:2740818 SMCHD1 A>G	18	2740818	2740818	A	G	SMCHD1	c.3632A>G	NM_015295.2	NP_056110.2:p.(Gln1211Arg)	NC_000018.9:g.2740818A>G	VUS	1 lab	a20df92a1c
9:71687579 FXN C>T	9	71687579	71687579	C	T	FXN	c.542C>T	NM_181425.2	NP_852090.1:p.(Thr181Met)	NC_000009.11:g.71687579C>T	VUS	1 lab	a20e8584ee
12:88457784 CEP290 C>T	12	88457784	88457784	C	T	CEP290	c.6244G>A	NM_025114.3	NP_079390.3:p.(Ala2082Thr)	NC_000012.11:g.88457784C>T	VUS	1 lab	a20ec50089
18:56412966 MALT1 A>G	18	56412966	56412966	A	G	MALT1	c.1980A>G	NM_006785.4	NP_006776.1:p.(Ser660=)	NC_000018.9:g.56412966A>G	(Likely) benign	1 lab	a21444a5e6
19:36499185 SYNE4 G>A	19	36499185	36499185	G	A	SYNE4	c.213C>T	NM_001039876.2	NP_001034965.1:p.(Ala71=)	NC_000019.9:g.36499185G>A	(Likely) benign	1 lab	a2146ade75
14:91739862 CCDC88C T>C	14	91739862	91739862	T	C	CCDC88C	c.5194A>G	NM_001080414.3	NP_001073883.2:p.(Thr1732Ala)	NC_000014.8:g.91739862T>C	VUS	1 lab	a214a7ec88
11:64065604 KCNK4 C>A	11	64065604	64065604	C	A	KCNK4	c.684C>A	NM_033310.3	NP_201567.1:p.(Ser228=)	NC_000011.9:g.64065604C>A	(Likely) benign	1 lab	a21514c919
1:120463025 NOTCH2 A>G	1	120463025	120463025	A	G	NOTCH2	c.5311-5T>C	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120463025A>G	(Likely) benign	1 lab	a216ac154a
14:100331865 EML1 C>A	14	100331865	100331865	C	A	EML1	c.265C>A	NM_001008707.1	NP_001008707.1:p.(Gln89Lys)	NC_000014.8:g.100331865C>A	(Likely) benign	1 lab	a216f82441
X:124454721 TEX13C A>G	X	124454721	124454721	A	G	TEX13C	c.753A>G	NM_001195272.2	NP_001182201.1:p.(Pro251=)	NC_000023.10:g.124454721A>G	(Likely) benign	1 lab	a21734889f
16:31159919 PRSS36 G>A	16	31159919	31159919	G	A	PRSS36	c.350C>T	NM_173502.4	NP_775773.2:p.(Ala117Val)	NC_000016.9:g.31159919G>A	VUS	1 lab	a21a34472d
10:124772161 ACADSB A>G	10	124772161	124772161	A	G	ACADSB	c.42+3574A>G	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124772161A>G	(Likely) benign	1 lab	a21a958195
1:152277641 FLG C>A	1	152277641	152277641	C	A	FLG	c.9721G>T	NM_002016.1	NP_002007.1:p.(Gly3241Ter)	NC_000001.10:g.152277641C>A	(Likely) pathogenic	1 lab	a21d76a646
X:107170093 MID2 T>C	X	107170093	107170093	T	C	MID2	c.1998T>C	NM_012216.3	NP_036348.2:p.(Ser666=)	NC_000023.10:g.107170093T>C	(Likely) benign	1 lab	a21db23d9b
X:19701967 SH3KBP1 C>T	X	19701967	19701967	C	T	SH3KBP1	c.775G>A	NM_001353891.1	NP_001340820.1:p.(Glu259Lys)	NC_000023.10:g.19701967C>T	VUS	1 lab	a21f9fed74
19:55143447 LILRB1 T>C	19	55143447	55143447	T	C	LILRB1	c.420T>C	NM_006669.6	NP_006660.4:p.(Asn140=)	NC_000019.9:g.55143447T>C	(Likely) benign	1 lab	a22567bec1
2:238250736 COL6A3 C>T	2	238250736	238250736	C	T	COL6A3	c.7737G>A	NM_004369.3	NP_004360.2:p.(Glu2579=)	NC_000002.11:g.238250736C>T	(Likely) benign	1 lab	a22700ee45
X:131212370 FRMD7 C>T	X	131212370	131212370	C	T	FRMD7	c.1675G>A	NM_194277.2	NP_919253.1:p.(Gly559Ser)	NC_000023.10:g.131212370C>T	(Likely) benign	1 lab	a229eaf301
X:7243536 STS A>G	X	7243536	7243536	A	G	STS	c.1253A>G	NM_000351.5	NP_000342.2:p.(Asp418Gly)	NC_000023.10:g.7243536A>G	(Likely) benign	1 lab	a22a9a2b91
2:179453719 TTN C>T	2	179453719	179453719	C	T	TTN	c.62733G>A	NM_001267550.1	NP_001254479.1:p.(Trp20911Ter)	NC_000002.11:g.179453719C>T	(Likely) pathogenic	1 lab	a22b34c4e4
21:33074607 SCAF4 G>A	21	33074607	33074607	G	A	SCAF4	c.407C>T	NM_020706.2	NP_065757.1:p.(Ala136Val)	NC_000021.8:g.33074607G>A	VUS	1 lab	a22c63e69a
10:126089455 OAT T>TA	10	126089455	126089456	T	TA	OAT	c.1112dup	NM_001322966.1	NP_001309895.1:p.(Arg372LysfsTer12)	NC_000010.10:g.126089456dup	(Likely) pathogenic	1 lab	a22ee300f0
X:71877466 PHKA1 A>G	X	71877466	71877466	A	G	PHKA1	c.890T>C	NM_002637.3	NP_002628.2:p.(Leu297Pro)	NC_000023.10:g.71877466A>G	(Likely) benign	1 lab	a22f73eb50
X:17750063 NHS AG>A	X	17750063	17750064	AG	A	NHS	c.4436del	NM_001291867.2	NP_001278796.1:p.(Ser1479ThrfsTer13)	NC_000023.10:g.17750064del	VUS	1 lab	a230204367
3:10140536 FANCD2 G>A	3	10140536	10140536	G	A	FANCD2	c.4318G>A	NM_033084.3	NP_149075.2:p.(Gly1440Ser)	NC_000003.11:g.10140536G>A	(Likely) benign	1 lab	a230c4e45e
5:146258290 PPP2R2B A>AGCT	5	146258290	146258322	A	AGCT	PPP2R2B	c.55_57dup	NM_181675.3	NP_858061.2:p.(Ser19dup)	NC_000005.9:g.146258320_146258322dup	VUS	1 lab	a230fa8793
20:30946602 ASXL1 G>T	20	30946602	30946602	G	T	ASXL1	c.24G>T	NM_015338.5	NP_056153.2:p.(Lys8Asn)	NC_000020.10:g.30946602G>T	(Likely) benign	1 lab	a23217624c
17:4721821 PLD2 T>C	17	4721821	4721821	T	C	PLD2	c.2042T>C	NM_002663.4	NP_002654.3:p.(Leu681Ser)	NC_000017.10:g.4721821T>C	VUS	1 lab	a234a6a8ed
3:37070325 MLH1 G>A	3	37070325	37070325	G	A	MLH1	c.1460G>A	NM_000249.3	NP_000240.1:p.(Arg487Gln)	NC_000003.11:g.37070325G>A	VUS	1 lab	a2350bd083
15:82456288 EFL1 T>C	15	82456288	82456288	T	C	EFL1	c.1788A>G	NM_001322845.1	NP_001309774.1:p.(Ala596=)	NC_000015.9:g.82456288T>C	(Likely) benign	1 lab	a237fe50b7
10:61828814 ANK3 T>C	10	61828814	61828814	T	C	ANK3	c.11825A>G	NM_020987.5	NP_066267.2:p.(Lys3942Arg)	NC_000010.10:g.61828814T>C	(Likely) benign	1 lab	a238f236bf
13:46541910 ZC3H13 GTCTCGTTCTCTC>G	13	46541910	46541932	GTCTCGTTCTCTC	G	ZC3H13	c.4038_4049del	NM_001330564.2	NP_001317493.1:p.(Glu1346_Arg1349del)	NC_000013.10:g.46541921_46541932del	VUS	1 lab	a2394b6f59
19:50910593 POLD1 G>A	19	50910593	50910593	G	A	POLD1	c.1696G>A	NM_001308632.1	NP_001295561.1:p.(Glu566Lys)	NC_000019.9:g.50910593G>A	(Likely) benign	1 lab	a239d72171
9:140611623 EHMT1 G>A	9	140611623	140611623	G	A	EHMT1	c.631G>A	NM_024757.4	NP_079033.4:p.(Val211Ile)	NC_000009.11:g.140611623G>A	(Likely) benign	1 lab	a239ed4754
8:43028883 HGSNAT C>T	8	43028883	43028883	C	T	HGSNAT	c.848C>T	NM_152419.2	NP_689632.2:p.(Pro283Leu)	NC_000008.10:g.43028883C>T	(Likely) pathogenic	1 lab	a23aa42729
16:50826621 CYLD G>A	16	50826621	50826621	G	A	CYLD	c.2350+5G>A	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50826621G>A	VUS	1 lab	a23b5076aa
X:33038253 DMD T>C	X	33038253	33038253	T	C	DMD	c.-277+3A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.33038253T>C	(Likely) benign	1 lab	a23ba933a8
6:7581703 DSP C>A	6	7581703	7581703	C	A	DSP	c.5280C>A	NM_004415.2	NP_004406.2:p.(Asn1760Lys)	NC_000006.11:g.7581703C>A	(Likely) benign	1 lab	a23d662075
12:83324301 TMTC2 C>A	12	83324301	83324301	C	A	TMTC2	c.1575C>A	NM_152588.3	NP_689801.1:p.(Asn525Lys)	NC_000012.11:g.83324301C>A	VUS	1 lab	a23e16e333
15:101420196 ALDH1A3 G>A	15	101420196	101420196	G	A	ALDH1A3	c.84G>A	NM_000693.3	NP_000684.2:p.(Glu28=)	NC_000015.9:g.101420196G>A	(Likely) benign	1 lab	a23e75913c
17:43367848 MAP3K14 G>A	17	43367848	43367848	G	A	MAP3K14	c.256+8C>T	NM_003954.5	NP_003945.2:p.?	NC_000017.10:g.43367848G>A	(Likely) benign	1 lab	a240ba7c18
7:82764393 PCLO C>T	7	82764393	82764393	C	T	PCLO	c.2473G>A	NM_033026.5	NP_149015.2:p.(Ala825Thr)	NC_000007.13:g.82764393C>T	(Likely) benign	1 lab	a241237c4c
11:66472247 SPTBN2 AG>A	11	66472247	66472248	AG	A	SPTBN2	c.2499del	NM_006946.4	NP_008877.2:p.(Tyr834ThrfsTer68)	NC_000011.9:g.66472248del	(Likely) pathogenic	1 lab	a2424b1242
9:135781247 TSC1 T>G	9	135781247	135781247	T	G	TSC1	c.1718A>C	NM_000368.4	NP_000359.1:p.(Gln573Pro)	NC_000009.11:g.135781247T>G	VUS	1 lab	a242a09517
19:12989560 DNASE2 G>A	19	12989560	12989560	G	A	DNASE2	c.435C>T	NM_001375.3	NP_001366.1:p.(Ser145=)	NC_000019.9:g.12989560G>A	(Likely) benign	1 lab	a242dbbb32
19:7705818 STXBP2 C>T	19	7705818	7705818	C	T	STXBP2	c.391C>T	NM_001272034.1	NP_001258963.1:p.(Arg131Cys)	NC_000019.9:g.7705818C>T	VUS	1 lab	a247ae7931
12:48391673 COL2A1 C>T	12	48391673	48391673	C	T	COL2A1	c.410G>A	NM_001844.4	NP_001835.3:p.(Arg137His)	NC_000012.11:g.48391673C>T	VUS	1 lab	a247d2b8a0
9:131549647 TBC1D13 C>G	9	131549647	131549647	C	G	TBC1D13	c.15C>G	NM_018201.5	NP_060671.3:p.(His5Gln)	NC_000009.11:g.131549647C>G	VUS	1 lab	a24810c3bb
1:196696050 CFH C>A	1	196696050	196696050	C	A	CFH	c.2216C>A	NM_000186.3	NP_000177.2:p.(Thr739Asn)	NC_000001.10:g.196696050C>A	VUS	1 lab	a24874eab6
16:1568240 IFT140 C>T	16	1568240	1568240	C	T	IFT140	c.4159G>A	NM_014714.3	NP_055529.2:p.(Val1387Met)	NC_000016.9:g.1568240C>T	(Likely) benign	1 lab	a248a4413f
1:236995373 MTR T>C	1	236995373	236995373	T	C	MTR	c.1183T>C	NM_000254.2	NP_000245.2:p.(Tyr395His)	NC_000001.10:g.236995373T>C	VUS	1 lab	a249567083
12:58025071 B4GALNT1 C>T	12	58025071	58025071	C	T	B4GALNT1	c.295G>A	NM_001478.4	NP_001469.1:p.(Ala99Thr)	NC_000012.11:g.58025071C>T	VUS	1 lab	a249c57947
2:179448633 TTN T>C	2	179448633	179448633	T	C	TTN	c.65276A>G	NM_001267550.1	NP_001254479.1:p.(Asp21759Gly)	NC_000002.11:g.179448633T>C	VUS	1 lab	a24a98fb8c
3:30691871 TGFBR2 G>GA	3	30691871	30691881	G	GA	TGFBR2	c.458dup	NM_001024847.2	NP_001020018.1:p.(Pro154AlafsTer3)	NC_000003.11:g.30691881dup	(Likely) pathogenic	1 lab	a24acabdcf
11:62782165 SLC22A8 T>A	11	62782165	62782165	T	A	SLC22A8	c.266A>T	NM_004254.4	NP_004245.2:p.(Gln89Leu)	NC_000011.9:g.62782165T>A	VUS	1 lab	a24ee18f92
12:123738480 MTRFR A>G	12	123738480	123738480	A	G	MTRFR	c.259A>G	NM_001194995.1	NP_001181924.1:p.(Ile87Val)	NC_000012.11:g.123738480A>G	VUS	1 lab	a24f4c4630
9:79952453 VPS13A G>C	9	79952453	79952453	G	C	VPS13A	c.6378G>C	NM_033305.2	NP_150648.2:p.(Glu2126Asp)	NC_000009.11:g.79952453G>C	VUS	1 lab	a25019ceb1
4:79447746 FRAS1 G>A	4	79447746	79447746	G	A	FRAS1	c.10860G>A	NM_025074.7	NP_079350.5:p.(Gln3620=)	NC_000004.11:g.79447746G>A	(Likely) benign	1 lab	a252c29173
10:50681584 ERCC6 A>C	10	50681584	50681584	A	C	ERCC6	c.2648T>G	NM_000124.2	NP_000115.1:p.(Leu883Arg)	NC_000010.10:g.50681584A>C	VUS	1 lab	a252f43011
12:102159069 GNPTAB T>C	12	102159069	102159069	T	C	GNPTAB	c.1626A>G	NM_024312.4	NP_077288.2:p.(Glu542=)	NC_000012.11:g.102159069T>C	(Likely) benign	1 lab	a2535e0deb
11:46727005 ZNF408 C>T	11	46727005	46727005	C	T	ZNF408	c.1755C>T	NM_024741.2	NP_079017.1:p.(Gly585=)	NC_000011.9:g.46727005C>T	(Likely) benign	1 lab	a253870fe0
4:79410159 FRAS1 C>T	4	79410159	79410159	C	T	FRAS1	c.8883C>T	NM_025074.7	NP_079350.5:p.(Ser2961=)	NC_000004.11:g.79410159C>T	(Likely) benign	1 lab	a253b01f20
22:26219546 MYO18B C>A	22	26219546	26219546	C	A	MYO18B	c.2596C>A	NM_001318245.1	NP_001305174.1:p.(Leu866Met)	NC_000022.10:g.26219546C>A	VUS	1 lab	a256fa7fb8
13:100635203 ZIC2 G>A	13	100635203	100635203	G	A	ZIC2	c.885G>A	NM_007129.4	NP_009060.2:p.(Pro295=)	NC_000013.10:g.100635203G>A	(Likely) benign	1 lab	a258016de2
12:110618289 IFT81 A>C	12	110618289	110618289	A	C	IFT81	c.1251A>C	NM_014055.3	NP_054774.2:p.(Ile417=)	NC_000012.11:g.110618289A>C	(Likely) benign	1 lab	a25ba48a6e
13:32906669 BRCA2 T>TA	13	32906669	32906670	T	TA	BRCA2	c.1055dup	NM_000059.3	NP_000050.2:p.(Tyr352Ter)	NC_000013.10:g.32906670dup	(Likely) pathogenic	1 lab	a25c533a9f
9:124089725 GSN C>G	9	124089725	124089725	C	G	GSN	c.1835C>G	NM_001127663.1	NP_001121135.2:p.(Ala612Gly)	NC_000009.11:g.124089725C>G	VUS	1 lab	a25ca0e4a7
15:78403513 CIB2 C>T	15	78403513	78403513	C	T	CIB2	c.192G>A	NM_006383.3	NP_006374.1:p.(Glu64=)	NC_000015.9:g.78403513C>T	(Likely) benign	1 lab	a25d429b41
6:160517598 IGF2R C>T	6	160517598	160517598	C	T	IGF2R	c.6783C>T	NM_000876.3	NP_000867.2:p.(His2261=)	NC_000006.11:g.160517598C>T	(Likely) benign	1 lab	a25f8f46ee
2:179600410 TTN C>T	2	179600410	179600410	C	T	TTN	c.14763G>A	NM_001267550.1	NP_001254479.1:p.(Trp4921Ter)	NC_000002.11:g.179600410C>T	VUS	1 lab	a2647beba0
7:117267588 CFTR AGCCGA>GG	7	117267588	117267593	AGCCGA	GG	CFTR	c.3481_3486delinsGG	NM_000492.3	NP_000483.3:p.(Ser1161GlyfsTer30)	NC_000007.13:g.117267588_117267593delinsGG	(Likely) pathogenic	1 lab	a265d2023d
9:463595 DOCK8 C>G	9	463595	463595	C	G	DOCK8	c.6147C>G	NM_203447.3	NP_982272.2:p.(Asn2049Lys)	NC_000009.11:g.463595C>G	VUS	1 lab	a6852ef822
1:39845913 MACF1 T>TA	1	39845913	39845914	T	TA	MACF1	c.7333-2dup	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39845914dup	(Likely) benign	1 lab	a2673fbb9e
1:39909220 MACF1 G>T	1	39909220	39909220	G	T	MACF1	c.13228G>T	NM_012090.5	NP_036222.3:p.(Ala4410Ser)	NC_000001.10:g.39909220G>T	VUS	1 lab	a269557066
2:239258005 TRAF3IP1 C>G	2	239258005	239258005	C	G	TRAF3IP1	c.1407C>G	NM_015650.3	NP_056465.2:p.(Pro469=)	NC_000002.11:g.239258005C>G	(Likely) benign	1 lab	a26976d39a
22:27003899 CRYBB1 C>A	22	27003899	27003899	C	A	CRYBB1	c.386G>T	NM_001887.4	NP_001878.1:p.(Ser129Ile)	NC_000022.10:g.27003899C>A	VUS	1 lab	a269b7103f
18:19395642 MIB1 A>T	18	19395642	19395642	A	T	MIB1	c.1545A>T	NM_020774.3	NP_065825.1:p.(Val515=)	NC_000018.9:g.19395642A>T	(Likely) benign	1 lab	a269e7e10d
17:39464586 KRTAP16-1 C>G	17	39464586	39464586	C	G	KRTAP16-1	c.920G>C	NM_001146182.1	NP_001139654.1:p.(Ser307Thr)	NC_000017.10:g.39464586C>G	(Likely) benign	1 lab	a26b7b0cfb
5:178413723 GRM6 T>C	5	178413723	178413723	T	C	GRM6	c.1532A>G	NM_000843.4	NP_000834.2:p.(His511Arg)	NC_000005.9:g.178413723T>C	(Likely) benign	1 lab	a26c18411e
8:6302594 MCPH1 G>A	8	6302594	6302594	G	A	MCPH1	c.1351G>A	NM_024596.4	NP_078872.2:p.(Glu451Lys)	NC_000008.10:g.6302594G>A	(Likely) benign	1 lab	a26e51cb3f
2:170103983 LRP2 C>T	2	170103983	170103983	C	T	LRP2	c.2813G>A	NM_004525.3	NP_004516.2:p.(Arg938Gln)	NC_000002.11:g.170103983C>T	VUS	1 lab	a26f1ce73c
16:2112468 TSC2 G>T	16	2112468	2112468	G	T	TSC2	c.1258-30G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112468G>T	(Likely) benign	1 lab	a271b841fc
16:2136735 TSC2 GTCT>G	16	2136735	2136740	GTCT	G	TSC2	c.4855_4857del	NM_000548.5	NP_000539.2:p.(Phe1619del)	NC_000016.9:g.2136738_2136740del	(Likely) pathogenic	1 lab	a27241e778
X:154736653 TMLHE A>G	X	154736653	154736653	A	G	TMLHE	c.901T>C	NM_018196.3	NP_060666.1:p.(Tyr301His)	NC_000023.10:g.154736653A>G	VUS	1 lab	a2728cf6d5
16:89576913 SPG7 C>T	16	89576913	89576913	C	T	SPG7	c.199C>T	NM_003119.3	NP_003110.1:p.(Leu67=)	NC_000016.9:g.89576913C>T	(Likely) benign	1 lab	a2729171b6
X:66937445 AR C>G	X	66937445	66937445	C	G	AR	c.2299C>G	NM_000044.4	NP_000035.2:p.(Pro767Ala)	NC_000023.10:g.66937445C>G	(Likely) pathogenic	1 lab	a2734ab6ff
15:58837946 LIPC G>T	15	58837946	58837946	G	T	LIPC	c.580G>T	NM_000236.3	NP_000227.2:p.(Asp194Tyr)	NC_000015.9:g.58837946G>T	VUS	1 lab	39589dc60a
6:152772200 SYNE1 C>A	6	152772200	152772200	C	A	SYNE1	c.3168G>T	NM_182961.3	NP_892006.3:p.(Lys1056Asn)	NC_000006.11:g.152772200C>A	(Likely) benign	1 lab	a274204971
19:633504 POLRMT T>C	19	633504	633504	T	C	POLRMT	c.9A>G	NM_005035.3	NP_005026.3:p.(Ala3=)	NC_000019.9:g.633504T>C	(Likely) benign	1 lab	a27423c0a3
X:46360303 ZNF674 C>G	X	46360303	46360303	C	G	ZNF674	c.721G>C	NM_001039891.2	NP_001034980.1:p.(Val241Leu)	NC_000023.10:g.46360303C>G	VUS	1 lab	a276886e6b
9:140058298 GRIN1 G>C	9	140058298	140058298	G	C	GRIN1	c.2531G>C	NM_007327.3	NP_015566.1:p.(Arg844Pro)	NC_000009.11:g.140058298G>C	(Likely) pathogenic	1 lab	a277a6ea6b
15:86838537 AGBL1 C>T	15	86838537	86838537	C	T	AGBL1	c.2272C>T	NM_152336.3	NP_689549.3:p.(Arg758Trp)	NC_000015.9:g.86838537C>T	VUS	1 lab	a2782e8ea8
6:162864490 PRKN T>G	6	162864490	162864490	T	G	PRKN	c.23A>C	NM_004562.2	NP_004553.2:p.(Asn8Thr)	NC_000006.11:g.162864490T>G	VUS	1 lab	a27c6bdc85
X:153175197 ARHGAP4 G>T	X	153175197	153175197	G	T	ARHGAP4	c.2532C>A	NM_001164741.1	NP_001158213.1:p.(Ala844=)	NC_000023.10:g.153175197G>T	(Likely) benign	1 lab	a27cbfdeb9
5:13754395 DNAH5 G>A	5	13754395	13754395	G	A	DNAH5	c.10472C>T	NM_001369.2	NP_001360.1:p.(Thr3491Met)	NC_000005.9:g.13754395G>A	(Likely) benign	1 lab	a27ce61d21
19:10439755 RAVER1 C>T	19	10439755	10439755	C	T	RAVER1	c.319G>A	NM_133452.3	NP_597709.3:p.(Glu107Lys)	NC_000019.9:g.10439755C>T	VUS	1 lab	a280761130
5:135496549 SMAD5 A>G	5	135496549	135496549	A	G	SMAD5	c.408A>G	NM_001001419.2	NP_001001419.1:p.(Leu136=)	NC_000005.9:g.135496549A>G	(Likely) benign	1 lab	a281f6d3c8
11:1031927 MUC6 G>A	11	1031927	1031927	G	A	MUC6	c.242C>T	NM_005961.2	NP_005952.2:p.(Thr81Ile)	NC_000011.9:g.1031927G>A	VUS	1 lab	a28298c7c9
4:1388569 CRIPAK C>T	4	1388569	1388569	C	T	CRIPAK	c.270C>T	NM_175918.3	NP_787114.2:p.(Ala90=)	NC_000004.11:g.1388569C>T	(Likely) benign	1 lab	a2855bc969
12:49446735 KMT2D G>A	12	49446735	49446735	G	A	KMT2D	c.1075C>T	NM_003482.3	NP_003473.3:p.(Arg359Cys)	NC_000012.11:g.49446735G>A	(Likely) benign	1 lab	a28881506f
16:1621443 IFT140 G>A	16	1621443	1621443	G	A	IFT140	c.1617C>T	NM_014714.3	NP_055529.2:p.(Asp539=)	NC_000016.9:g.1621443G>A	(Likely) benign	1 lab	a28a15e256
16:78198080 WWOX G>T	16	78198080	78198080	G	T	WWOX	c.410G>T	NM_016373.3	NP_057457.1:p.(Gly137Val)	NC_000016.9:g.78198080G>T	VUS	1 lab	a28a818571
1:5923345 NPHP4 C>T	1	5923345	5923345	C	T	NPHP4	c.4261G>A	NM_015102.4	NP_055917.1:p.(Val1421Met)	NC_000001.10:g.5923345C>T	VUS	1 lab	a28a881680
6:82927785 IBTK T>C	6	82927785	82927785	T	C	IBTK	c.1318A>G	NM_015525.3	NP_056340.2:p.(Ile440Val)	NC_000006.11:g.82927785T>C	(Likely) benign	1 lab	a28b0dd03b
17:78082510 GAA C>G	17	78082510	78082510	C	G	GAA	c.1209C>G	NM_000152.3	NP_000143.2:p.(Asn403Lys)	NC_000017.10:g.78082510C>G	(Likely) pathogenic	1 lab	a28b331b1b
X:46913975 JADE3 A>G	X	46913975	46913975	A	G	JADE3	c.1388A>G	NM_014735.5	NP_055550.1:p.(Glu463Gly)	NC_000023.10:g.46913975A>G	VUS	1 lab	a28b85e8f2
3:164760966 SI A>T	3	164760966	164760966	A	T	SI	c.1888-3T>A	NM_001041.3	NP_001032.2:p.?	NC_000003.11:g.164760966A>T	VUS	1 lab	bde3d57149
X:20062542 MAP7D2 C>T	X	20062542	20062542	C	T	MAP7D2	c.819G>A	NM_001168465.2	NP_001161937.1:p.(Thr273=)	NC_000023.10:g.20062542C>T	(Likely) benign	1 lab	a28be2c6d8
16:68718662 CDH3 C>G	16	68718662	68718662	C	G	CDH3	c.1359C>G	NM_001317195.1	NP_001304124.1:p.(Ile453Met)	NC_000016.9:g.68718662C>G	VUS	1 lab	a28dce012a
22:30051614 NF2 T>C	22	30051614	30051614	T	C	NF2	c.548T>C	NM_000268.3	NP_000259.1:p.(Met183Thr)	NC_000022.10:g.30051614T>C	VUS	1 lab	a2903c07b1
6:56504071 DST G>A	6	56504071	56504071	G	A	DST	c.2851C>T	NM_001144769.2	NP_001138241.1:p.(Arg951Trp)	NC_000006.11:g.56504071G>A	(Likely) benign	1 lab	a290493eec
16:85694974 GSE1 G>A	16	85694974	85694974	G	A	GSE1	c.1863G>A	NM_014615.4	NP_055430.1:p.(Pro621=)	NC_000016.9:g.85694974G>A	(Likely) benign	1 lab	a2917600b9
6:129571288 LAMA2 C>T	6	129571288	129571288	C	T	LAMA2	c.1814C>T	NM_000426.3	NP_000417.2:p.(Thr605Ile)	NC_000006.11:g.129571288C>T	VUS	1 lab	a29359987b
17:41939211 CD300LG G>A	17	41939211	41939211	G	A	CD300LG	c.931G>A	NM_145273.4	NP_660316.2:p.(Val311Met)	NC_000017.10:g.41939211G>A	(Likely) benign	1 lab	a296803ee2
11:2683245 KCNQ1 A>G	11	2683245	2683245	A	G	KCNQ1	c.1448A>G	NM_000218.2	NP_000209.2:p.(Asn483Ser)	NC_000011.9:g.2683245A>G	(Likely) benign	1 lab	a297fd996f
2:109378579 RANBP2 A>G	2	109378579	109378579	A	G	RANBP2	c.2625A>G	NM_006267.4	NP_006258.3:p.(Val875=)	NC_000002.11:g.109378579A>G	(Likely) benign	1 lab	a2991b1d75
10:70765600 KIFBP G>T	10	70765600	70765600	G	T	KIFBP	c.718G>T	NM_015634.3	NP_056449.1:p.(Glu240Ter)	NC_000010.10:g.70765600G>T	(Likely) pathogenic	1 lab	a29f087b61
18:57103282 CCBE1 C>T	18	57103282	57103282	C	T	CCBE1	c.1079G>A	NM_133459.4	NP_597716.1:p.(Arg360Gln)	NC_000018.9:g.57103282C>T	VUS	1 lab	a2a09f668b
2:136564689 LCT ACTC>A	2	136564689	136564695	ACTC	A	LCT	c.4173+6_4173+8del	NM_002299.4	NP_002290.2:p.?	NC_000002.11:g.136564693_136564695del	(Likely) benign	1 lab	a2a1103cd8
X:114426796 RBMXL3 A>G	X	114426796	114426796	A	G	RBMXL3	c.2792A>G	NM_001145346.1	NP_001138818.1:p.(Asn931Ser)	NC_000023.10:g.114426796A>G	(Likely) benign	1 lab	a2a49e4703
15:90176085 KIF7 G>A	15	90176085	90176085	G	A	KIF7	c.2861C>T	NM_198525.2	NP_940927.2:p.(Thr954Met)	NC_000015.9:g.90176085G>A	VUS	1 lab	a2a5302683
3:38597238 SCN5A T>TCCTGGCCC	3	38597238	38597249	T	TCCTGGCCC	SCN5A	c.4443_4450dup	NM_001099404.1	NP_001092874.1:p.(Asp1484GlyfsTer7)	NC_000003.11:g.38597242_38597249dup	(Likely) pathogenic	1 lab	a2a740a118
5:70786857 BDP1 T>A	5	70786857	70786857	T	A	BDP1	c.1539T>A	NM_018429.2	NP_060899.2:p.(Ser513Arg)	NC_000005.9:g.70786857T>A	VUS	1 lab	a2a96714de
2:44513174 SLC3A1 A>G	2	44513174	44513174	A	G	SLC3A1	c.769A>G	NM_000341.3	NP_000332.2:p.(Ser257Gly)	NC_000002.11:g.44513174A>G	VUS	1 lab	a2a996fd2d
15:90191563 KIF7 A>C	15	90191563	90191563	A	C	KIF7	c.1366T>G	NM_198525.2	NP_940927.2:p.(Ser456Ala)	NC_000015.9:g.90191563A>C	VUS	1 lab	a2a9c6ab66
14:77786864 POMT2 G>T	14	77786864	77786864	G	T	POMT2	c.161C>A	NM_013382.5	NP_037514.2:p.(Ala54Glu)	NC_000014.8:g.77786864G>T	(Likely) benign	1 lab	a2aa1bd3bb
11:47354533 MYBPC3 A>T	11	47354533	47354533	A	T	MYBPC3	c.3331-9T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354533A>T	VUS	1 lab	a2aa3402f7
7:30701798 CRHR2 G>A	7	30701798	30701798	G	A	CRHR2	c.690C>T	NM_001202481.1	NP_001189410.1:p.(Ile230=)	NC_000007.13:g.30701798G>A	(Likely) benign	1 lab	a2aa6d1436
10:73499536 CDH23 C>T	10	73499536	73499536	C	T	CDH23	c.4488+7C>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73499536C>T	(Likely) benign	1 lab	a2aa85dbfa
19:15558997 WIZ C>T	19	15558997	15558997	C	T	WIZ	c.122G>A	NM_021241.2	NP_067064.2:p.(Gly41Asp)	NC_000019.9:g.15558997C>T	VUS	1 lab	a2acfe852b
11:62295714 AHNAK G>A	11	62295714	62295714	G	A	AHNAK	c.6175C>T	NM_001620.2	NP_001611.1:p.(Pro2059Ser)	NC_000011.9:g.62295714G>A	(Likely) benign	1 lab	a2adb110f8
17:1840927 RTN4RL1 G>C	17	1840927	1840927	G	C	RTN4RL1	c.189C>G	NM_178568.4	NP_848663.1:p.(Asn63Lys)	NC_000017.10:g.1840927G>C	VUS	1 lab	a2af6b67eb
10:99508086 ZFYVE27 C>T	10	99508086	99508086	C	T	ZFYVE27	c.516C>T	NM_144588.6	NP_653189.3:p.(Arg172=)	NC_000010.10:g.99508086C>T	(Likely) benign	1 lab	a2af840734
14:73637521 PSEN1 G>A	14	73637521	73637521	G	A	PSEN1	c.104G>A	NM_000021.3	NP_000012.1:p.(Arg35Gln)	NC_000014.8:g.73637521G>A	(Likely) benign	1 lab	a2affd8606
16:27789939 KATNIP C>T	16	27789939	27789939	C	T	KATNIP	c.4846C>T	NM_015202.3	NP_056017.3:p.(Arg1616Trp)	NC_000016.9:g.27789939C>T	VUS	1 lab	a2cc1c8b9f
14:74975348 LTBP2 G>A	14	74975348	74975348	G	A	LTBP2	c.3611C>T	NM_000428.2	NP_000419.1:p.(Ala1204Val)	NC_000014.8:g.74975348G>A	VUS	1 lab	a2b03d23d9
19:49469953 FTL C>T	19	49469953	49469953	C	T	FTL	c.489C>T	NM_000146.3	NP_000137.2:p.(Gly163=)	NC_000019.9:g.49469953C>T	VUS	1 lab	a2b37bf775
12:57430162 MYO1A G>A	12	57430162	57430162	G	A	MYO1A	c.2278C>T	NM_001256041.1	NP_001242970.1:p.(Arg760Ter)	NC_000012.11:g.57430162G>A	VUS	1 lab	a2b41e5268
14:91739557 CCDC88C C>A	14	91739557	91739557	C	A	CCDC88C	c.5499G>T	NM_001080414.3	NP_001073883.2:p.(Glu1833Asp)	NC_000014.8:g.91739557C>A	(Likely) benign	1 lab	a2b4a1b772
9:137642703 COL5A1 C>T	9	137642703	137642703	C	T	COL5A1	c.1637C>T	NM_000093.4	NP_000084.3:p.(Ala546Val)	NC_000009.11:g.137642703C>T	VUS	1 lab	a2b56211db
19:15793316 CYP4F12 CA>C	19	15793316	15793317	CA	C	CYP4F12	c.644del	NM_023944.4	NP_076433.3:p.(Gln215ArgfsTer18)	NC_000019.9:g.15793317del	VUS	1 lab	a2b5c6edcb
16:2121510 TSC2 G>C	16	2121510	2121510	G	C	TSC2	c.1840-1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121510G>C	(Likely) pathogenic	1 lab	be75e8f27e
X:32481707 DMD A>G	X	32481707	32481707	A	G	DMD	c.2912T>C	NM_004010.3	NP_004001.1:p.(Leu971Ser)	NC_000023.10:g.32481707A>G	VUS	1 lab	a2b5edc33c
9:69424032 ANKRD20A4P C>T	9	69424032	69424032	C	T	ANKRD20A4P	c.2328C>T	NM_001098805.1	NP_001092275.1:p.(Phe776=)	NC_000009.11:g.69424032C>T	(Likely) benign	1 lab	a2b605c19a
16:89704123 DPEP1 G>A	16	89704123	89704123	G	A	DPEP1	c.929+8G>A	NM_004413.3	NP_004404.1:p.?	NC_000016.9:g.89704123G>A	(Likely) benign	1 lab	a2b641242e
17:29588804 NF1 CAA>AAAT	17	29588804	29588806	CAA	AAAT	NF1	c.4590_4592delinsAAAT	NM_000267.3	NP_000258.1:p.(His1530GlnfsTer13)	NC_000017.10:g.29588804_29588806delinsAAAT	(Likely) pathogenic	1 lab	a2b75d9944
12:26755382 ITPR2 C>T	12	26755382	26755382	C	T	ITPR2	c.3599G>A	NM_002223.3	NP_002214.2:p.(Arg1200Gln)	NC_000012.11:g.26755382C>T	VUS	1 lab	a2b906690e
X:152027397 NSDHL T>C	X	152027397	152027397	T	C	NSDHL	c.351T>C	NM_015922.3	NP_057006.1:p.(Phe117=)	NC_000023.10:g.152027397T>C	(Likely) benign	1 lab	a2b906c029
9:135204578 SETX T>C	9	135204578	135204578	T	C	SETX	c.2407A>G	NM_001351527.1	NP_001338456.1:p.(Thr803Ala)	NC_000009.11:g.135204578T>C	(Likely) benign	1 lab	a2bc4f9105
5:13780953 DNAH5 T>C	5	13780953	13780953	T	C	DNAH5	c.8936A>G	NM_001369.2	NP_001360.1:p.(Gln2979Arg)	NC_000005.9:g.13780953T>C	VUS	1 lab	a2c0c79f42
6:43252875 TTBK1 C>T	6	43252875	43252875	C	T	TTBK1	c.3727C>T	NM_032538.2	NP_115927.1:p.(Arg1243Cys)	NC_000006.11:g.43252875C>T	VUS	1 lab	a2c285429a
X:13645256 EGFL6 C>G	X	13645256	13645256	C	G	EGFL6	c.1415C>G	NM_001167890.1	NP_001161362.1:p.(Ala472Gly)	NC_000023.10:g.13645256C>G	VUS	1 lab	a2c4a5b378
2:212483949 ERBB4 T>C	2	212483949	212483949	T	C	ERBB4	c.2254A>G	NM_005235.2	NP_005226.1:p.(Ile752Val)	NC_000002.11:g.212483949T>C	VUS	1 lab	a2c665535d
X:17739686 NHS G>A	X	17739686	17739686	G	A	NHS	c.1041G>A	NM_001291867.1	NP_001278796.1:p.(Thr347=)	NC_000023.10:g.17739686G>A	(Likely) benign	1 lab	a2c747d1bb
9:35698080 TLN1 T>C	9	35698080	35698080	T	C	TLN1	c.7461A>G	NM_006289.4	NP_006280.3:p.(Thr2487=)	NC_000009.11:g.35698080T>C	(Likely) benign	1 lab	a2c7724757
7:100677275 MUC17 T>C	7	100677275	100677275	T	C	MUC17	c.2578T>C	NM_001040105.1	NP_001035194.1:p.(Tyr860His)	NC_000007.13:g.100677275T>C	(Likely) benign	1 lab	a2c9697c4d
4:126402784 FAT4 C>T	4	126402784	126402784	C	T	FAT4	c.12707C>T	NM_024582.4	NP_078858.4:p.(Ala4236Val)	NC_000004.11:g.126402784C>T	(Likely) benign	1 lab	a2cc364c3c
13:60565362 DIAPH3 T>C	13	60565362	60565362	T	C	DIAPH3	c.1291A>G	NM_001042517.1	NP_001035982.1:p.(Thr431Ala)	NC_000013.10:g.60565362T>C	VUS	1 lab	a2cd91b8a2
12:111963049 ATXN2 C>T	12	111963049	111963049	C	T	ATXN2	c.1123G>A	NM_002973.3	NP_002964.3:p.(Asp375Asn)	NC_000012.11:g.111963049C>T	(Likely) benign	1 lab	a2d026f9aa
10:79784897 POLR3A T>C	10	79784897	79784897	T	C	POLR3A	c.322A>G	NM_007055.3	NP_008986.2:p.(Ile108Val)	NC_000010.10:g.79784897T>C	VUS	1 lab	a2d1139e91
X:31676147 DMD T>C	X	31676147	31676147	T	C	DMD	c.7618A>G	NM_004010.3	NP_004001.1:p.(Thr2540Ala)	NC_000023.10:g.31676147T>C	VUS	1 lab	a2d2b992e1
12:58158240 CYP27B1 G>C	12	58158240	58158240	G	C	CYP27B1	c.1057C>G	NM_000785.3	NP_000776.1:p.(Pro353Ala)	NC_000012.11:g.58158240G>C	(Likely) benign	1 lab	a2d33f05bc
15:57555435 TCF12 CA>C	15	57555435	57555440	CA	C	TCF12	c.1713del	NM_207037.2	NP_996920.1:p.(Asp572IlefsTer19)	NC_000015.9:g.57555440del	(Likely) pathogenic	1 lab	a2d4a957f4
3:195512505 MUC4 G>T	3	195512505	195512505	G	T	MUC4	c.5946C>A	NM_018406.6	NP_060876.5:p.(Ala1982=)	NC_000003.11:g.195512505G>T	(Likely) benign	1 lab	a2d59bb311
8:30924689 WRN T>A	8	30924689	30924689	T	A	WRN	c.645T>A	NM_000553.4	NP_000544.2:p.(Thr215=)	NC_000008.10:g.30924689T>A	(Likely) benign	1 lab	a2d62ca5d8
X:54011401 PHF8 C>T	X	54011401	54011401	C	T	PHF8	c.2389G>A	NM_015107.2	NP_055922.1:p.(Ala797Thr)	NC_000023.10:g.54011401C>T	(Likely) benign	1 lab	a2d654e14f
2:219294388 VIL1 T>C	2	219294388	219294388	T	C	VIL1	c.839T>C	NM_007127.2	NP_009058.2:p.(Leu280Pro)	NC_000002.11:g.219294388T>C	VUS	1 lab	a2d73f4e85
5:118844919 HSD17B4 C>T	5	118844919	118844919	C	T	HSD17B4	c.1492C>T	NM_001199291.2	NP_001186220.1:p.(Arg498Trp)	NC_000005.9:g.118844919C>T	VUS	1 lab	a2d785c59e
13:23915781 SACS C>T	13	23915781	23915781	C	T	SACS	c.2234G>A	NM_014363.5	NP_055178.3:p.(Arg745His)	NC_000013.10:g.23915781C>T	VUS	1 lab	a2d9296637
20:3210278 SLC4A11 G>A	20	3210278	3210278	G	A	SLC4A11	c.1763C>T	NM_001174090.1	NP_001167561.1:p.(Thr588Met)	NC_000020.10:g.3210278G>A	(Likely) benign	1 lab	a2da43cda2
10:16882952 CUBN G>A	10	16882952	16882952	G	A	CUBN	c.9758C>T	NM_001081.3	NP_001072.2:p.(Thr3253Met)	NC_000010.10:g.16882952G>A	VUS	1 lab	a2da8c4d18
15:31198050 FAN1 T>C	15	31198050	31198050	T	C	FAN1	c.1184T>C	NM_014967.4	NP_055782.3:p.(Leu395Pro)	NC_000015.9:g.31198050T>C	VUS	1 lab	a2db05c5a0
4:170359284 NEK1 A>C	4	170359284	170359284	A	C	NEK1	c.2714T>G	NM_001199397.1	NP_001186326.1:p.(Phe905Cys)	NC_000004.11:g.170359284A>C	(Likely) benign	1 lab	a2db6fa01b
11:1267192 MUC5B A>C	11	1267192	1267192	A	C	MUC5B	c.9082A>C	NM_002458.2	NP_002449.2:p.(Thr3028Pro)	NC_000011.9:g.1267192A>C	(Likely) benign	1 lab	a2db73fd82
8:144996101 PLEC G>A	8	144996101	144996101	G	A	PLEC	c.8299C>T	NM_201380.3	NP_958782.1:p.(Arg2767Trp)	NC_000008.10:g.144996101G>A	VUS	1 lab	a2dbd12978
X:41043760 USP9X A>C	X	41043760	41043760	A	C	USP9X	c.3390A>C	NM_001039591.3	NP_001034680.2:p.(Leu1130=)	NC_000023.10:g.41043760A>C	(Likely) benign	1 lab	a2dd433c71
5:14488086 TRIO G>A	5	14488086	14488086	G	A	TRIO	c.7349G>A	NM_007118.3	NP_009049.2:p.(Arg2450Gln)	NC_000005.9:g.14488086G>A	VUS	1 lab	a2e10390e3
14:70346416 SMOC1 C>T	14	70346416	70346416	C	T	SMOC1	c.21C>T	NM_001034852.2	NP_001030024.1:p.(Ala7=)	NC_000014.8:g.70346416C>T	(Likely) benign	1 lab	a2e23d87dc
1:39776563 MACF1 G>A	1	39776563	39776563	G	A	MACF1	c.3176G>A	NM_012090.5	NP_036222.3:p.(Arg1059His)	NC_000001.10:g.39776563G>A	(Likely) benign	1 lab	a2e394050b
10:75832506 VCL A>G	10	75832506	75832506	A	G	VCL	c.518A>G	NM_014000.2	NP_054706.1:p.(Lys173Arg)	NC_000010.10:g.75832506A>G	VUS	1 lab	a2e6e554c1
17:29533334 NF1 CA>C	17	29533334	29533335	CA	C	NF1	c.1338del	NM_001042492.3	NP_001035957.1:p.(Leu447PhefsTer26)	NC_000017.10:g.29533335del	(Likely) pathogenic	1 lab	a2e8c37767
16:136771 NPRL3 C>T	16	136771	136771	C	T	NPRL3	c.1568G>A	NM_001243249.1	NP_001230178.1:p.(Arg523His)	NC_000016.9:g.136771C>T	VUS	1 lab	a2e91e342c
17:18054500 MYO15A C>G	17	18054500	18054500	C	G	MYO15A	c.7550C>G	NM_016239.3	NP_057323.3:p.(Thr2517Ser)	NC_000017.10:g.18054500C>G	VUS	1 lab	a2ea18e823
3:25824881 NGLY1 T>C	3	25824881	25824881	T	C	NGLY1	c.1A>G	NM_001145293.1	NP_001138765.1:p.(Met1?)	NC_000003.11:g.25824881T>C	VUS	1 lab	a2f878f149
6:3225969 TUBB2B A>G	6	3225969	3225969	A	G	TUBB2B	c.354T>C	NM_178012.4	NP_821080.1:p.(Asp118=)	NC_000006.11:g.3225969A>G	(Likely) benign	1 lab	a2ebd14be1
12:22354742 ST8SIA1 C>T	12	22354742	22354742	C	T	ST8SIA1	c.815G>A	NM_003034.3	NP_003025.1:p.(Arg272His)	NC_000012.11:g.22354742C>T	VUS	1 lab	a2ebe92562
14:64894046 MTHFD1 G>A	14	64894046	64894046	G	A	MTHFD1	c.1128-9G>A	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64894046G>A	(Likely) benign	1 lab	a2ecfddcdb
22:18389497 MICAL3 T>C	22	18389497	18389497	T	C	MICAL3	c.82A>G	NM_015241.3	NP_056056.2:p.(Thr28Ala)	NC_000022.10:g.18389497T>C	VUS	1 lab	a2eea52e84
6:56391347 DST T>C	6	56391347	56391347	T	C	DST	c.11584A>G	NM_001144769.2	NP_001138241.1:p.(Lys3862Glu)	NC_000006.11:g.56391347T>C	VUS	1 lab	a2efaee0ea
5:68715242 MARVELD2 G>A	5	68715242	68715242	G	A	MARVELD2	c.30G>A	NM_001038603.2	NP_001033692.2:p.(Arg10=)	NC_000005.9:g.68715242G>A	(Likely) benign	1 lab	a2efe0bb07
11:22215047 ANO5 C>G	11	22215047	22215047	C	G	ANO5	c.9C>G	NM_213599.2	NP_998764.1:p.(Asp3Glu)	NC_000011.9:g.22215047C>G	(Likely) benign	1 lab	a2f40b4fea
19:38949874 RYR1 G>A	19	38949874	38949874	G	A	RYR1	c.2256G>A	NM_000540.2	NP_000531.2:p.(Pro752=)	NC_000019.9:g.38949874G>A	(Likely) benign	1 lab	a2f4f005d4
3:184045208 EIF4G1 G>A	3	184045208	184045208	G	A	EIF4G1	c.3636G>A	NM_182917.4	NP_886553.3:p.(Thr1212=)	NC_000003.11:g.184045208G>A	(Likely) benign	1 lab	a2f639543b
20:57429587 GNAS G>C	20	57429587	57429587	G	C	GNAS	c.1267G>C	NM_080425.3	NP_536350.2:p.(Gly423Arg)	NC_000020.10:g.57429587G>C	(Likely) benign	1 lab	a2f73375e2
X:124454138 TEX13C C>T	X	124454138	124454138	C	T	TEX13C	c.170C>T	NM_001195272.2	NP_001182201.1:p.(Pro57Leu)	NC_000023.10:g.124454138C>T	VUS	1 lab	a2f7c11fc2
X:49075124 CACNA1F A>G	X	49075124	49075124	A	G	CACNA1F	c.2837T>C	NM_005183.3	NP_005174.2:p.(Leu946Pro)	NC_000023.10:g.49075124A>G	VUS	1 lab	a2f7fea00e
19:50364732 PNKP C>T	19	50364732	50364732	C	T	PNKP	c.1422G>A	NM_007254.3	NP_009185.2:p.(Val474=)	NC_000019.9:g.50364732C>T	(Likely) benign	1 lab	a2f97724d4
13:32931943 BRCA2 A>C	13	32931943	32931943	A	C	BRCA2	c.7682A>C	NM_000059.3	NP_000050.2:p.(Gln2561Pro)	NC_000013.10:g.32931943A>C	VUS	1 lab	a2faff3b54
13:61084833 TDRD3 C>T	13	61084833	61084833	C	T	TDRD3	c.806C>T	NM_001146071.1	NP_001139543.1:p.(Ala269Val)	NC_000013.10:g.61084833C>T	VUS	1 lab	a2fbba0376
10:100177387 HPS1 C>T	10	100177387	100177387	C	T	HPS1	c.1065G>A	NM_001322487.1	NP_001309416.1:p.(Leu355=)	NC_000010.10:g.100177387C>T	(Likely) benign	1 lab	a2fcfe4052
17:1636939 WDR81 C>T	17	1636939	1636939	C	T	WDR81	c.4608C>T	NM_001163809.1	NP_001157281.1:p.(Pro1536=)	NC_000017.10:g.1636939C>T	(Likely) benign	1 lab	a2fde4f7c7
13:32747666 FRY A>T	13	32747666	32747666	A	T	FRY	c.2314A>T	NM_023037.2	NP_075463.2:p.(Ile772Phe)	NC_000013.10:g.32747666A>T	(Likely) benign	1 lab	a2fe4b2cb8
16:81944314 PLCG2 C>T	16	81944314	81944314	C	T	PLCG2	c.1923C>T	NM_002661.3	NP_002652.2:p.(His641=)	NC_000016.9:g.81944314C>T	(Likely) benign	1 lab	a2ff887cda
X:17744151 NHS C>A	X	17744151	17744151	C	A	NHS	c.1925C>A	NM_001291867.1	NP_001278796.1:p.(Pro642His)	NC_000023.10:g.17744151C>A	VUS	1 lab	a2fffe9ea0
17:80847540 TBCD G>A	17	80847540	80847540	G	A	TBCD	c.1534-4G>A	NM_005993.4	NP_005984.3:p.?	NC_000017.10:g.80847540G>A	(Likely) benign	1 lab	a302016b2f
X:153175801 ARHGAP4 G>A	X	153175801	153175801	G	A	ARHGAP4	c.2100C>T	NM_001164741.1	NP_001158213.1:p.(Phe700=)	NC_000023.10:g.153175801G>A	(Likely) benign	1 lab	a302aa97eb
10:67862956 CTNNA3 G>C	10	67862956	67862956	G	C	CTNNA3	c.1936C>G	NM_013266.3	NP_037398.2:p.(Arg646Gly)	NC_000010.10:g.67862956G>C	(Likely) benign	1 lab	a302eb9812
3:54905598 CACNA2D3 C>T	3	54905598	54905598	C	T	CACNA2D3	c.1659C>T	NM_018398.2	NP_060868.2:p.(Asn553=)	NC_000003.11:g.54905598C>T	(Likely) benign	1 lab	a3042ef57d
14:99641155 BCL11B G>C	14	99641155	99641155	G	C	BCL11B	c.2018C>G	NM_138576.3	NP_612808.1:p.(Pro673Arg)	NC_000014.8:g.99641155G>C	VUS	1 lab	a304be57ab
11:1093710 MISSING C>A	11	1093710	1093710	C	A	MISSING				NC_000011.9:g.1093710C>A	(Likely) benign	1 lab	a304d15266
X:144329136 SPANXN1 G>A	X	144329136	144329136	G	A	SPANXN1	c.30G>A	NM_001009614.2	NP_001009614.1:p.(Gly10=)	NC_000023.10:g.144329136G>A	VUS	1 lab	a305e8a93c
10:79777419 POLR3A T>C	10	79777419	79777419	T	C	POLR3A	c.1345A>G	NM_007055.3	NP_008986.2:p.(Ile449Val)	NC_000010.10:g.79777419T>C	(Likely) benign	1 lab	a30663e1cb
16:139798 NPRL3 G>A	16	139798	139798	G	A	NPRL3	c.1189C>T	NM_001243249.1	NP_001230178.1:p.(Arg397Cys)	NC_000016.9:g.139798G>A	VUS	1 lab	a3069e5fd3
5:131927609 RAD50 A>G	5	131927609	131927609	A	G	RAD50	c.1676A>G	NM_005732.3	NP_005723.2:p.(His559Arg)	NC_000005.9:g.131927609A>G	(Likely) benign	1 lab	a3076d5689
X:37665738 CYBB C>T	X	37665738	37665738	C	T	CYBB	c.1413C>T	NM_000397.3	NP_000388.2:p.(Ala471=)	NC_000023.10:g.37665738C>T	(Likely) benign	1 lab	a30782058d
9:140127241 SLC34A3 G>C	9	140127241	140127241	G	C	SLC34A3	c.310G>C	NM_001177317.1	NP_001170788.1:p.(Val104Leu)	NC_000009.11:g.140127241G>C	(Likely) benign	1 lab	a307d7c011
20:57485057 GNAS C>A	20	57485057	57485057	C	A	GNAS	c.2820C>A	NM_080425.3	NP_536350.2:p.(Leu940=)	NC_000020.10:g.57485057C>A	(Likely) benign	1 lab	a308b52679
15:73624573 HCN4 T>C	15	73624573	73624573	T	C	HCN4	c.1270A>G	NM_005477.2	NP_005468.1:p.(Met424Val)	NC_000015.9:g.73624573T>C	VUS	1 lab	a30a29937b
X:71791936 HDAC8 A>G	X	71791936	71791936	A	G	HDAC8	c.135T>C	NM_001166419.1	NP_001159891.1:p.(Ile45=)	NC_000023.10:g.71791936A>G	(Likely) benign	1 lab	a30bf2afc3
17:29663443 NF1 T>TA	17	29663443	29663444	T	TA	NF1	c.6037dup	NM_000267.3	NP_000258.1:p.(Thr2013AsnfsTer26)	NC_000017.10:g.29663444dup	(Likely) pathogenic	1 lab	a30c5609a6
X:135579941 HTATSF1 A>T	X	135579941	135579941	A	T	HTATSF1	c.98A>T	NM_001163280.1	NP_001156752.1:p.(Asp33Val)	NC_000023.10:g.135579941A>T	VUS	1 lab	a30ee023ef
12:40677757 LRRK2 G>A	12	40677757	40677757	G	A	LRRK2	c.2322G>A	NM_198578.3	NP_940980.3:p.(Ala774=)	NC_000012.11:g.40677757G>A	(Likely) benign	1 lab	a30f14b161
21:46897359 COL18A1 G>A	21	46897359	46897359	G	A	COL18A1	c.1503G>A	NM_030582.4	NP_085059.2:p.(Thr501=)	NC_000021.8:g.46897359G>A	(Likely) benign	1 lab	a30f708bd9
4:502759 PIGG G>A	4	502759	502759	G	A	PIGG	c.901G>A	NM_001127178.2	NP_001120650.1:p.(Gly301Ser)	NC_000004.11:g.502759G>A	VUS	1 lab	a311a4777e
3:123010074 ADCY5 C>T	3	123010074	123010074	C	T	ADCY5	c.3213G>A	NM_183357.2	NP_899200.1:p.(Ala1071=)	NC_000003.11:g.123010074C>T	(Likely) benign	1 lab	a313507bbb
3:45441840 LARS2 G>A	3	45441840	45441840	G	A	LARS2	c.338G>A	NM_015340.4	NP_056155.1:p.(Arg113Gln)	NC_000003.11:g.45441840G>A	VUS	1 lab	a314ee0208
X:77112882 MAGT1 C>T	X	77112882	77112882	C	T	MAGT1	c.599G>A	NM_032121.5	NP_115497.4:p.(Arg200Gln)	NC_000023.10:g.77112882C>T	VUS	1 lab	a316b4f8b6
11:20065790 NAV2 G>A	11	20065790	20065790	G	A	NAV2	c.3240G>A	NM_001244963.1	NP_001231892.1:p.(Pro1080=)	NC_000011.9:g.20065790G>A	(Likely) benign	1 lab	a3181941c7
1:228465491 OBSCN C>T	1	228465491	228465491	C	T	OBSCN	c.8078C>T	NM_001271223.2	NP_001258152.2:p.(Ala2693Val)	NC_000001.10:g.228465491C>T	(Likely) benign	1 lab	a3183df16e
22:42322743 TNFRSF13C T>C	22	42322743	42322743	T	C	TNFRSF13C	c.35A>G	NM_052945.3	NP_443177.1:p.(Asp12Gly)	NC_000022.10:g.42322743T>C	(Likely) benign	1 lab	a31a4650f6
19:9076716 MUC16 G>A	19	9076716	9076716	G	A	MUC16	c.10730C>T	NM_024690.2	NP_078966.2:p.(Thr3577Ile)	NC_000019.9:g.9076716G>A	(Likely) benign	1 lab	a31b081b22
X:77254022 ATP7A C>G	X	77254022	77254022	C	G	ATP7A	c.1384C>G	NM_000052.6	NP_000043.4:p.(Pro462Ala)	NC_000023.10:g.77254022C>G	(Likely) benign	1 lab	a31bb2b769
8:61777857 CHD7 G>A	8	61777857	61777857	G	A	CHD7				NC_000008.10:g.61777857G>A	VUS	1 lab	a31d940643
7:42116350 GLI3 C>T	7	42116350	42116350	C	T	GLI3	c.473+1G>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42116350C>T	(Likely) pathogenic	1 lab	a31eabfdde
19:18260224 MAST3 C>T	19	18260224	18260224	C	T	MAST3	c.3618C>T	NM_015016.2	NP_055831.1:p.(Pro1206=)	NC_000019.9:g.18260224C>T	(Likely) benign	1 lab	a31f6f7509
12:29524605 ERGIC2 T>A	12	29524605	29524605	T	A	ERGIC2	c.-37-2A>T	NM_016570.3	NP_057654.2:p.?	NC_000012.11:g.29524605T>A	VUS	1 lab	a32110f567
1:213349747 RPS6KC1 C>T	1	213349747	213349747	C	T	RPS6KC1	c.956C>T	NM_012424.6	NP_036556.2:p.(Pro319Leu)	NC_000001.10:g.213349747C>T	(Likely) benign	1 lab	a3236c883f
18:55992397 NEDD4L G>C	18	55992397	55992397	G	C	NEDD4L	c.680+3G>C	NM_001144967.2	NP_001138439.1:p.?	NC_000018.9:g.55992397G>C	VUS	1 lab	a324228b45
15:80465372 FAH G>A	15	80465372	80465372	G	A	FAH	c.723G>A	NM_000137.2	NP_000128.1:p.(Lys241=)	NC_000015.9:g.80465372G>A	(Likely) benign	1 lab	a324d54d91
13:20763504 GJB2 G>T	13	20763504	20763504	G	T	GJB2	c.217C>A	NM_004004.6	NP_003995.2:p.(His73Asn)	NC_000013.10:g.20763504G>T	VUS	1 lab	a32596c582
17:29664601 NF1 G>T	17	29664601	29664601	G	T	NF1	c.6579+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664601G>T	(Likely) pathogenic	1 lab	a326c6be46
2:179423099 TTN-AS1 A>G	2	179423099	179423099	A	G	TTN-AS1	n.2043+16011A>G	NR_038272.1		NC_000002.11:g.179423099A>G	(Likely) benign	1 lab	3a399ca9fd
18:47792763 CFAP53 C>A	18	47792763	47792763	C	A	CFAP53	c.12G>T	NM_145020.4	NP_659457.2:p.(Gln4His)	NC_000018.9:g.47792763C>A	VUS	1 lab	a328714aa4
20:60885053 LAMA5 G>A	20	60885053	60885053	G	A	LAMA5	c.10819C>T	NM_005560.4	NP_005551.3:p.(Arg3607Trp)	NC_000020.10:g.60885053G>A	VUS	1 lab	a3291327bf
6:159653917 FNDC1 C>T	6	159653917	159653917	C	T	FNDC1	c.2373C>T	NM_032532.3	NP_115921.2:p.(Asp791=)	NC_000006.11:g.159653917C>T	(Likely) benign	1 lab	a32991907f
8:30977873 WRN G>A	8	30977873	30977873	G	A	WRN	c.2563G>A	NM_000553.4	NP_000544.2:p.(Ala855Thr)	NC_000008.10:g.30977873G>A	VUS	1 lab	a32a3326e3
19:36593665 WDR62 G>A	19	36593665	36593665	G	A	WDR62	c.3247G>A	NM_001083961.1	NP_001077430.1:p.(Val1083Met)	NC_000019.9:g.36593665G>A	(Likely) benign	1 lab	a32a3e7e62
16:2336871 ABCA3 C>T	16	2336871	2336871	C	T	ABCA3	c.3102G>A	NM_001089.2	NP_001080.2:p.(Glu1034=)	NC_000016.9:g.2336871C>T	(Likely) benign	1 lab	a32ae46c15
5:150886883 FAT2 G>T	5	150886883	150886883	G	T	FAT2	c.12349C>A	NM_001447.2	NP_001438.1:p.(Pro4117Thr)	NC_000005.9:g.150886883G>T	(Likely) benign	1 lab	a32b8d8e77
16:2098755 TSC2 G>A	16	2098755	2098755	G	A	TSC2	c.138+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2098755G>A	(Likely) pathogenic	1 lab	bedab24e8e
22:26849322 HPS4 T>C	22	26849322	26849322	T	C	HPS4	c.1762A>G	NM_001349903.1	NP_001336832.1:p.(Ile588Val)	NC_000022.10:g.26849322T>C	VUS	1 lab	a32bb89d3f
19:13366020 CACNA1A C>T	19	13366020	13366020	C	T	CACNA1A	c.4656G>A	NM_023035.2	NP_075461.2:p.(Pro1552=)	NC_000019.9:g.13366020C>T	(Likely) benign	1 lab	a32c240c7c
X:153694127 PLXNA3 G>A	X	153694127	153694127	G	A	PLXNA3	c.2469G>A	NM_017514.4	NP_059984.3:p.(Pro823=)	NC_000023.10:g.153694127G>A	(Likely) benign	1 lab	a32ce4eb1f
4:79301155 FRAS1 C>T	4	79301155	79301155	C	T	FRAS1	c.3563+5C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79301155C>T	VUS	1 lab	a32cfbdd35
8:144810101 SACK1H G>A	8	144810101	144810101	G	A	SACK1H	c.1530C>T	NM_198488.3	NP_940890.3:p.(Tyr510=)	NC_000008.10:g.144810101G>A	(Likely) benign	1 lab	a32dcdd7dd
17:7320545 NLGN2 G>A	17	7320545	7320545	G	A	NLGN2	c.1935G>A	NM_020795.4	NP_065846.1:p.(Pro645=)	NC_000017.10:g.7320545G>A	(Likely) benign	1 lab	a32dd1053c
1:157567721 FCRL4 G>A	1	157567721	157567721	G	A	FCRL4	c.14C>T	NM_031282.3	NP_112572.1:p.(Ala5Val)	NC_000001.10:g.157567721G>A	(Likely) benign	1 lab	a32ddb9dd8
1:100376331 AGL A>G	1	100376331	100376331	A	G	AGL	c.3764A>G	NM_000028.2	NP_000019.2:p.(Asn1255Ser)	NC_000001.10:g.100376331A>G	VUS	1 lab	a32e85283e
4:151773935 LRBA G>A	4	151773935	151773935	G	A	LRBA	c.2927C>T	NM_001199282.2	NP_001186211.2:p.(Thr976Met)	NC_000004.11:g.151773935G>A	(Likely) benign	1 lab	a330cae5a0
9:135781144 TSC1 AAGAT>A	9	135781144	135781148	AAGAT	A	TSC1	c.1817_1820del	NM_000368.5	NP_000359.1:p.(His606LeufsTer22)	NC_000009.11:g.135781145_135781148del	(Likely) pathogenic	1 lab	a331b98a52
16:28944602 CD19 C>T	16	28944602	28944602	C	T	CD19	c.607C>T	NM_001178098.1	NP_001171569.1:p.(Pro203Ser)	NC_000016.9:g.28944602C>T	(Likely) benign	1 lab	a333835847
19:50792777 MYH14 C>T	19	50792777	50792777	C	T	MYH14	c.4837C>T	NM_001145809.1	NP_001139281.1:p.(Leu1613=)	NC_000019.9:g.50792777C>T	(Likely) benign	1 lab	a333c7abb3
19:11552120 PRKCSH G>A	19	11552120	11552120	G	A	PRKCSH	c.416G>A	NM_001289103.1	NP_001276032.1:p.(Arg139His)	NC_000019.9:g.11552120G>A	VUS	1 lab	a338cf59fa
5:76129550 F2RL1 C>T	5	76129550	76129550	C	T	F2RL1	c.1118C>T	NM_005242.6	NP_005233.4:p.(Ser373Phe)	NC_000005.9:g.76129550C>T	(Likely) benign	1 lab	a33b7f1219
2:71187084 ATP6V1B1 C>T	2	71187084	71187084	C	T	ATP6V1B1	c.461C>T	NM_001692.4	NP_001683.2:p.(Pro154Leu)	NC_000002.11:g.71187084C>T	VUS	1 lab	a33d2e769d
2:63631777 WDPCP G>A	2	63631777	63631777	G	A	WDPCP	c.769C>T	NM_001354044.1	NP_001340973.1:p.(Arg257Cys)	NC_000002.11:g.63631777G>A	VUS	1 lab	a33eabd25e
5:52385852 ITGA2 G>GT	5	52385852	52385853	G	GT	ITGA2	c.3425_3426insT	NM_002203.3	NP_002194.2:p.(Ile1143AsnfsTer22)	NC_000005.9:g.52385852_52385853insT	VUS	1 lab	a341015820
19:8661279 ADAMTS10 C>T	19	8661279	8661279	C	T	ADAMTS10	c.1102G>A	NM_030957.3	NP_112219.3:p.(Gly368Arg)	NC_000019.9:g.8661279C>T	VUS	1 lab	a342017baa
11:68696692 IGHMBP2 TA>T	11	68696692	68696693	TA	T	IGHMBP2	c.1103del	NM_002180.3	NP_002171.2:p.(Tyr368SerfsTer23)	NC_000011.9:g.68696693del	(Likely) pathogenic	1 lab	a3435b71a3
15:85403081 ALPK3 C>T	15	85403081	85403081	C	T	ALPK3	c.4646C>T	NM_020778.4	NP_065829.3:p.(Thr1549Ile)	NC_000015.9:g.85403081C>T	VUS	1 lab	a344e805a0
7:146805320 CNTNAP2 T>C	7	146805320	146805320	T	C	CNTNAP2	c.632T>C	NM_014141.5	NP_054860.1:p.(Val211Ala)	NC_000007.13:g.146805320T>C	(Likely) benign	1 lab	a34576d998
15:85402630 ALPK3 A>G	15	85402630	85402630	A	G	ALPK3	c.4571+9A>G	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85402630A>G	(Likely) benign	1 lab	a34633ee70
15:43044594 TTBK2 T>C	15	43044594	43044594	T	C	TTBK2	c.2850A>G	NM_173500.3	NP_775771.3:p.(Gln950=)	NC_000015.9:g.43044594T>C	(Likely) benign	1 lab	a346478027
6:2766669 WRNIP1 C>G	6	2766669	2766669	C	G	WRNIP1	c.813C>G	NM_020135.2	NP_064520.2:p.(Gly271=)	NC_000006.11:g.2766669C>G	(Likely) benign	1 lab	a348cc3775
X:7811258 VCX C>T	X	7811258	7811258	C	T	VCX	c.14C>T	NM_013452.2	NP_038480.2:p.(Pro5Leu)	NC_000023.10:g.7811258C>T	VUS	1 lab	a34a1a2b1d
6:170169618 ERMARD CT>C	6	170169618	170169619	CT	C	ERMARD	c.1060-17del	NM_018341.3	NP_060811.1:p.?	NC_000006.11:g.170169619del	(Likely) benign	1 lab	a34a39e663
17:80888475 TBCD C>T	17	80888475	80888475	C	T	TBCD	c.3069C>T	NM_005993.4	NP_005984.3:p.(Ser1023=)	NC_000017.10:g.80888475C>T	(Likely) benign	1 lab	a34ca504e2
11:117232656 CEP164 G>A	11	117232656	117232656	G	A	CEP164	c.499G>A	NM_014956.4	NP_055771.4:p.(Val167Met)	NC_000011.9:g.117232656G>A	VUS	1 lab	a34e4c3227
X:118284424 KIAA1210 C>T	X	118284424	118284424	C	T	KIAA1210	c.119G>A	NM_020721.1	NP_065772.1:p.(Arg40Gln)	NC_000023.10:g.118284424C>T	(Likely) benign	1 lab	a35050517e
18:31324343 ASXL3 G>A	18	31324343	31324343	G	A	ASXL3	c.4531G>A	NM_030632.2	NP_085135.1:p.(Val1511Ile)	NC_000018.9:g.31324343G>A	(Likely) benign	1 lab	a350a9ee7b
13:23907572 SACS G>C	13	23907572	23907572	G	C	SACS	c.10443C>G	NM_014363.5	NP_055178.3:p.(Leu3481=)	NC_000013.10:g.23907572G>C	(Likely) benign	1 lab	a350cf1aa9
1:210273710 SYT14 A>G	1	210273710	210273710	A	G	SYT14	c.954A>G	NM_001256006.1	NP_001242935.1:p.(Glu318=)	NC_000001.10:g.210273710A>G	(Likely) benign	1 lab	a352488b58
10:102768475 PDZD7 C>T	10	102768475	102768475	C	T	PDZD7	c.2851G>A	NM_001195263.1	NP_001182192.1:p.(Gly951Arg)	NC_000010.10:g.102768475C>T	VUS	1 lab	a354d11d12
9:140611573 EHMT1 C>T	9	140611573	140611573	C	T	EHMT1	c.581C>T	NM_024757.4	NP_079033.4:p.(Pro194Leu)	NC_000009.11:g.140611573C>T	(Likely) benign	1 lab	a35ad41523
8:61693719 CHD7 A>AG	8	61693719	61693721	A	AG	CHD7	c.1828dup	NM_017780.2	NP_060250.2:p.(Asp610GlyfsTer4)	NC_000008.10:g.61693721dup	(Likely) pathogenic	1 lab	a35b179f2c
3:97668773 RIOX2 C>T	3	97668773	97668773	C	T	RIOX2	c.975G>A	NM_001042533.2	NP_001035998.1:p.(Leu325=)	NC_000003.11:g.97668773C>T	(Likely) benign	1 lab	a35c6078e9
3:48508196 TREX1 C>T	3	48508196	48508196	C	T	TREX1	c.112C>T	NM_007248.4	NP_009179.2:p.(Pro38Ser)	NC_000003.11:g.48508196C>T	(Likely) benign	1 lab	a35cd90ff8
X:100125740 NOX1 C>T	X	100125740	100125740	C	T	NOX1	c.109G>A	NM_007052.4	NP_008983.2:p.(Asp37Asn)	NC_000023.10:g.100125740C>T	(Likely) benign	1 lab	a35d75e70b
X:79932254 BRWD3 T>G	X	79932254	79932254	T	G	BRWD3	c.5263A>C	NM_153252.4	NP_694984.4:p.(Arg1755=)	NC_000023.10:g.79932254T>G	(Likely) benign	1 lab	a360079d68
1:877627 SAMD11 C>T	1	877627	877627	C	T	SAMD11	c.981C>T	NM_152486.3	NP_689699.2:p.(Thr327=)	NC_000001.10:g.877627C>T	(Likely) benign	1 lab	a36047affe
3:129324655 PLXND1 C>T	3	129324655	129324655	C	T	PLXND1	c.828G>A	NM_015103.2	NP_055918.2:p.(Lys276=)	NC_000003.11:g.129324655C>T	(Likely) benign	1 lab	a360bc01b5
16:31277145 ITGAM C>T	16	31277145	31277145	C	T	ITGAM	c.252C>T	NM_001145808.1	NP_001139280.1:p.(Ala84=)	NC_000016.9:g.31277145C>T	(Likely) benign	1 lab	a361ccc148
3:196229848 RNF168 G>A	3	196229848	196229848	G	A	RNF168	c.197C>T	NM_152617.3	NP_689830.2:p.(Thr66Ile)	NC_000003.11:g.196229848G>A	VUS	1 lab	a366c626f9
X:153248032 TMEM187 C>T	X	153248032	153248032	C	T	TMEM187	c.519C>T	NM_003492.2	NP_003483.1:p.(Ala173=)	NC_000023.10:g.153248032C>T	(Likely) benign	1 lab	a36b36ba21
X:101909787 GPRASP1 A>T	X	101909787	101909787	A	T	GPRASP1	c.946A>T	NM_001184727.1	NP_001171656.1:p.(Lys316Ter)	NC_000023.10:g.101909787A>T	VUS	1 lab	a36b3e2c2f
11:108141980 ATM A>G	11	108141980	108141980	A	G	ATM	c.2924A>G	NM_001351834.1	NP_001338763.1:p.(Asn975Ser)	NC_000011.9:g.108141980A>G	(Likely) benign	1 lab	a36d2b4e26
X:38158202 RPGR A>G	X	38158202	38158202	A	G	RPGR	c.1245+7T>C	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38158202A>G	(Likely) benign	1 lab	a36d3c2360
19:581581 BSG C>T	19	581581	581581	C	T	BSG	c.1059C>T	NM_001728.3	NP_001719.2:p.(Asp353=)	NC_000019.9:g.581581C>T	(Likely) benign	1 lab	a36e2dd1eb
X:153763551 G6PD G>A	X	153763551	153763551	G	A	G6PD	c.407C>T	NM_000402.4	NP_000393.4:p.(Ser136Phe)	NC_000023.10:g.153763551G>A	VUS	1 lab	a3712b5de4
3:121720620 ILDR1 G>A	3	121720620	121720620	G	A	ILDR1	c.471C>T	NM_001199799.1	NP_001186728.1:p.(Pro157=)	NC_000003.11:g.121720620G>A	(Likely) benign	1 lab	a371c0658c
X:135095100 SLC9A6 A>G	X	135095100	135095100	A	G	SLC9A6	c.1042-8A>G	NM_001042537.1	NP_001036002.1:p.?	NC_000023.10:g.135095100A>G	(Likely) benign	1 lab	a3730f37ec
X:54784754 ITIH6 G>A	X	54784754	54784754	G	A	ITIH6	c.1753C>T	NM_198510.2	NP_940912.1:p.(Arg585Cys)	NC_000023.10:g.54784754G>A	(Likely) benign	1 lab	a3747eb6eb
7:117180242 CFTR T>G	7	117180242	117180242	T	G	CFTR	c.958T>G	NM_000492.3	NP_000483.3:p.(Leu320Val)	NC_000007.13:g.117180242T>G	VUS	1 lab	a375655aa8
11:65124211 TIGD3 G>A	11	65124211	65124211	G	A	TIGD3	c.932G>A	NM_145719.3	NP_663771.1:p.(Arg311Gln)	NC_000011.9:g.65124211G>A	VUS	1 lab	a376884bc4
1:150528033 ADAMTSL4 C>T	1	150528033	150528033	C	T	ADAMTSL4	c.1432C>T	NM_001288608.1	NP_001275537.1:p.(Arg478Cys)	NC_000001.10:g.150528033C>T	VUS	1 lab	a377dcdb8a
X:32613980 DMD T>G	X	32613980	32613980	T	G	DMD	c.1127A>C	NM_004010.3	NP_004001.1:p.(Asp376Ala)	NC_000023.10:g.32613980T>G	VUS	1 lab	a377fb3594
X:138879432 ATP11C G>A	X	138879432	138879432	G	A	ATP11C	c.911C>T	NM_001353812.1	NP_001340741.1:p.(Ala304Val)	NC_000023.10:g.138879432G>A	(Likely) benign	1 lab	a379b352dd
X:2933325 ARSH C>T	X	2933325	2933325	C	T	ARSH	c.655C>T	NM_001011719.1	NP_001011719.1:p.(Arg219Ter)	NC_000023.10:g.2933325C>T	VUS	1 lab	a37a197920
14:77493869 IRF2BPL C>T	14	77493869	77493869	C	T	IRF2BPL	c.267G>A	NM_024496.4	NP_078772.1:p.(Ala89=)	NC_000014.8:g.77493869C>T	(Likely) benign	1 lab	a37aee8bff
2:170068582 LRP2 G>A	2	170068582	170068582	G	A	LRP2	c.6176C>T	NM_004525.3	NP_004516.2:p.(Ser2059Phe)	NC_000002.11:g.170068582G>A	VUS	1 lab	a37b63bdb1
7:100681722 MUC17 G>A	7	100681722	100681722	G	A	MUC17	c.7025G>A	NM_001040105.1	NP_001035194.1:p.(Arg2342His)	NC_000007.13:g.100681722G>A	(Likely) benign	1 lab	a37b77199b
19:18980800 GDF1 G>A	19	18980800	18980800	G	A	GDF1	c.317C>T	NM_001492.5	NP_001483.3:p.(Pro106Leu)	NC_000019.9:g.18980800G>A	(Likely) benign	1 lab	a37e1c119d
21:46897843 COL18A1 G>A	21	46897843	46897843	G	A	COL18A1	c.1725G>A	NM_030582.4	NP_085059.2:p.(Pro575=)	NC_000021.8:g.46897843G>A	(Likely) benign	1 lab	a37e862281
X:86773182 KLHL4 C>A	X	86773182	86773182	C	A	KLHL4	c.286C>A	NM_019117.4	NP_061990.2:p.(Leu96Met)	NC_000023.10:g.86773182C>A	(Likely) benign	1 lab	a37edcc3ba
17:65924675 BPTF C>T	17	65924675	65924675	C	T	BPTF	c.5956C>T	NM_182641.4	NP_872579.2:p.(Gln1986Ter)	NC_000017.10:g.65924675C>T	VUS	1 lab	a37f7db0d9
X:138697061 MCF2 G>A	X	138697061	138697061	G	A	MCF2	c.1522C>T	NM_001171876.1	NP_001165347.1:p.(Pro508Ser)	NC_000023.10:g.138697061G>A	(Likely) benign	1 lab	a380ab211f
8:126044542 WASHC5 G>A	8	126044542	126044542	G	A	WASHC5	c.3276C>T	NM_014846.3	NP_055661.3:p.(Thr1092=)	NC_000008.10:g.126044542G>A	(Likely) benign	1 lab	a380e19456
3:46008213 FYCO1 C>T	3	46008213	46008213	C	T	FYCO1	c.2613G>A	NM_024513.3	NP_078789.2:p.(Arg871=)	NC_000003.11:g.46008213C>T	(Likely) benign	1 lab	a3812ed2d7
7:56126172 CCT6A CTG>C	7	56126172	56126176	CTG	C	CCT6A	c.846_847del	NM_001762.4	NP_001753.1:p.(Cys282TrpfsTer5)	NC_000007.13:g.56126175_56126176del	VUS	1 lab	a38133a40c
11:6413057 SMPD1 G>A	11	6413057	6413057	G	A	SMPD1	c.762G>A	NM_001318087.1	NP_001305016.1:p.(Leu254=)	NC_000011.9:g.6413057G>A	(Likely) benign	1 lab	a38381a6f3
9:439370 DOCK8 C>T	9	439370	439370	C	T	DOCK8	c.5205C>T	NM_203447.3	NP_982272.2:p.(Ala1735=)	NC_000009.11:g.439370C>T	(Likely) benign	1 lab	a384c7728c
11:71276691 KRTAP5-10 G>A	11	71276691	71276691	G	A	KRTAP5-10	c.58G>A	NM_001012710.1	NP_001012728.1:p.(Gly20Ser)	NC_000011.9:g.71276691G>A	(Likely) benign	1 lab	a384eb9277
X:114425778 RBMXL3 G>A	X	114425778	114425778	G	A	RBMXL3	c.1774G>A	NM_001145346.1	NP_001138818.1:p.(Glu592Lys)	NC_000023.10:g.114425778G>A	VUS	1 lab	a387391f3e
6:64694370 EYS T>G	6	64694370	64694370	T	G	EYS	c.6961A>C	NM_001292009.1	NP_001278938.1:p.(Ile2321Leu)	NC_000006.11:g.64694370T>G	(Likely) benign	1 lab	a388ff91eb
11:103128354 DYNC2H1 C>G	11	103128354	103128354	C	G	DYNC2H1	c.10500C>G	NM_001080463.1	NP_001073932.1:p.(Leu3500=)	NC_000011.9:g.103128354C>G	(Likely) benign	1 lab	a389a9dcca
22:30070871 NF2 GA>G	22	30070871	30070872	GA	G	NF2	c.1388del	NM_000268.4	NP_000259.1:p.(Glu463GlyfsTer22)	NC_000022.10:g.30070872del	(Likely) pathogenic	1 lab	a38df56e87
11:121031114 TECTA A>G	11	121031114	121031114	A	G	TECTA	c.4960A>G	NM_005422.2	NP_005413.2:p.(Asn1654Asp)	NC_000011.9:g.121031114A>G	VUS	1 lab	a38ea85400
17:76522784 DNAH17 G>C	17	76522784	76522784	G	C	DNAH17	c.3660C>G	NM_173628.3	NP_775899.3:p.(Arg1220=)	NC_000017.10:g.76522784G>C	(Likely) benign	1 lab	a392155a17
X:47306910 ZNF41 C>T	X	47306910	47306910	C	T	ZNF41	c.2259G>A	NM_007130.3	NP_009061.1:p.(Gln753=)	NC_000023.10:g.47306910C>T	(Likely) benign	1 lab	a392d893ef
1:228506762 OBSCN G>A	1	228506762	228506762	G	A	OBSCN	c.17180G>A	NM_001271223.2	NP_001258152.2:p.(Arg5727His)	NC_000001.10:g.228506762G>A	(Likely) benign	1 lab	a3942f777c
12:49428709 KMT2D T>C	12	49428709	49428709	T	C	KMT2D	c.10241A>G	NM_003482.3	NP_003473.3:p.(Lys3414Arg)	NC_000012.11:g.49428709T>C	(Likely) benign	1 lab	a398062445
11:119215476 MFRP G>A	11	119215476	119215476	G	A	MFRP	c.773-9C>T	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119215476G>A	(Likely) benign	1 lab	a3981211b0
17:29652883 NF1 CT>C	17	29652883	29652885	CT	C	NF1	c.4883del	NM_001042492.3	NP_001035957.1:p.(Leu1628TyrfsTer2)	NC_000017.10:g.29652885del	(Likely) pathogenic	1 lab	a39883d8b0
17:76441769 DNAH17 G>A	17	76441769	76441769	G	A	DNAH17	c.11212-7C>T	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76441769G>A	(Likely) benign	1 lab	a399d7ea4b
5:98224852 CHD1 T>C	5	98224852	98224852	T	C	CHD1	c.2271A>G	NM_001270.2	NP_001261.2:p.(Lys757=)	NC_000005.9:g.98224852T>C	(Likely) benign	1 lab	a39b3330c4
3:41275154 CTNNB1 A>G	3	41275154	41275154	A	G	CTNNB1	c.1320A>G	NM_001904.3	NP_001895.1:p.(Gln440=)	NC_000003.11:g.41275154A>G	VUS	1 lab	a39bc43663
7:128049489 IMPDH1 A>T	7	128049489	128049489	A	T	IMPDH1	c.190+6T>A	NM_000883.3	NP_000874.2:p.?	NC_000007.13:g.128049489A>T	(Likely) benign	1 lab	a39c3c6d80
5:43556819 PAIP1 G>A	5	43556819	43556819	G	A	PAIP1	c.130C>T	NM_006451.5	NP_006442.2:p.(Gln44Ter)	NC_000005.9:g.43556819G>A	VUS	1 lab	a39fdaba62
2:238234241 COL6A3 A>T	2	238234241	238234241	A	T	COL6A3	c.9455T>A	NM_004369.3	NP_004360.2:p.(Phe3152Tyr)	NC_000002.11:g.238234241A>T	VUS	1 lab	a3a1ef5405
11:606447 PHRF1 G>A	11	606447	606447	G	A	PHRF1	c.1457G>A	NM_020901.3	NP_065952.2:p.(Arg486His)	NC_000011.9:g.606447G>A	(Likely) benign	1 lab	a3a23e65f6
X:64738155 LAS1L C>T	X	64738155	64738155	C	T	LAS1L	c.1639G>A	NM_031206.4	NP_112483.1:p.(Gly547Arg)	NC_000023.10:g.64738155C>T	(Likely) benign	1 lab	a3a26ebda4
18:60052182 TNFRSF11A C>G	18	60052182	60052182	C	G	TNFRSF11A	c.1724C>G	NM_001278268.1	NP_001265197.1:p.(Pro575Arg)	NC_000018.9:g.60052182C>G	VUS	1 lab	a3a34d442c
2:9645345 ADAM17 G>A	2	9645345	9645345	G	A	ADAM17	c.1494C>T	NM_003183.6	NP_003174.3:p.(Asn498=)	NC_000002.11:g.9645345G>A	(Likely) benign	1 lab	a3a39b9c86
19:17666719 COLGALT1 C>A	19	17666719	17666719	C	A	COLGALT1	c.197C>A	NM_024656.4	NP_078932.2:p.(Ala66Glu)	NC_000019.9:g.17666719C>A	VUS	1 lab	a3a3b2fbb4
X:41205852 DDX3X G>A	X	41205852	41205852	G	A	DDX3X	c.1592G>A	NM_001356.4	NP_001347.3:p.(Arg531His)	NC_000023.10:g.41205852G>A	VUS	1 lab	a3a44d57ce
5:35039608 AGXT2 A>G	5	35039608	35039608	A	G	AGXT2	c.183T>C	NM_031900.4	NP_114106.1:p.(Leu61=)	NC_000005.9:g.35039608A>G	(Likely) benign	1 lab	a3a66f4416
12:119632307 HSPB8 A>G	12	119632307	119632307	A	G	HSPB8	c.*644A>G	NM_014365.3	NP_055180.1:p.?	NC_000012.11:g.119632307A>G	(Likely) benign	1 lab	3a8a573876
11:95712468 MAML2 G>T	11	95712468	95712468	G	T	MAML2	c.3115C>A	NM_032427.4	NP_115803.1:p.(Gln1039Lys)	NC_000011.9:g.95712468G>T	VUS	1 lab	a3a98fe6bb
4:110864546 EGF G>A	4	110864546	110864546	G	A	EGF	c.464G>A	NM_001963.5	NP_001954.2:p.(Ser155Asn)	NC_000004.11:g.110864546G>A	(Likely) benign	1 lab	a3ab010b2b
18:44229186 LOXHD1 C>T	18	44229186	44229186	C	T	LOXHD1	c.177G>A	NM_144612.6	NP_653213.6:p.(Thr59=)	NC_000018.9:g.44229186C>T	(Likely) benign	1 lab	a3ab0bcbcc
16:708627 WDR90 G>A	16	708627	708627	G	A	WDR90	c.2869G>A	NM_145294.5	NP_660337.3:p.(Ala957Thr)	NC_000016.9:g.708627G>A	(Likely) benign	1 lab	a3ab5ecea6
X:129267294 AIFM1 A>G	X	129267294	129267294	A	G	AIFM1	c.1442T>C	NM_004208.3	NP_004199.1:p.(Met481Thr)	NC_000023.10:g.129267294A>G	VUS	1 lab	a3ad1d1f67
15:25616948 UBE3A A>G	15	25616948	25616948	A	G	UBE3A	c.313T>C	NM_130838.1	NP_570853.1:p.(Leu105=)	NC_000015.9:g.25616948A>G	(Likely) benign	1 lab	a3adf6e97b
19:46289898 DMWD G>T	19	46289898	46289898	G	T	DMWD	c.856C>A	NM_004943.2	NP_004934.1:p.(Pro286Thr)	NC_000019.9:g.46289898G>T	VUS	1 lab	a3afa28c02
7:44574216 NPC1L1 C>T	7	44574216	44574216	C	T	NPC1L1	c.1996G>A	NM_013389.2	NP_037521.2:p.(Ala666Thr)	NC_000007.13:g.44574216C>T	(Likely) benign	1 lab	a3b0bb8306
12:124846751 NCOR2 C>T	12	124846751	124846751	C	T	NCOR2	c.3021G>A	NM_006312.5	NP_006303.4:p.(Pro1007=)	NC_000012.11:g.124846751C>T	(Likely) benign	1 lab	a3b1b30a23
19:36003995 DMKN A>G	19	36003995	36003995	A	G	DMKN	c.383T>C	NM_033317.5	NP_201574.4:p.(Val128Ala)	NC_000019.9:g.36003995A>G	(Likely) benign	1 lab	a3b2ac572e
5:79933726 DHFR T>A	5	79933726	79933726	T	A	DHFR	c.345A>T	NM_000791.3	NP_000782.1:p.(Ile115=)	NC_000005.9:g.79933726T>A	(Likely) benign	1 lab	a3b2bbdf80
X:47041352 RBM10 G>A	X	47041352	47041352	G	A	RBM10	c.1891G>A	NM_001204468.1	NP_001191397.1:p.(Val631Ile)	NC_000023.10:g.47041352G>A	(Likely) benign	1 lab	a3b4c4df3d
7:82784798 PCLO C>A	7	82784798	82784798	C	A	PCLO	c.1159G>T	NM_033026.5	NP_149015.2:p.(Gly387Trp)	NC_000007.13:g.82784798C>A	VUS	1 lab	a3b528f6db
2:171715333 GAD1 G>GT	2	171715333	171715338	G	GT	GAD1	c.1546dup	NM_000817.2	NP_000808.2:p.(Trp516LeufsTer64)	NC_000002.11:g.171715338dup	VUS	1 lab	a3b5f01d15
7:33545200 BBS9 C>T	7	33545200	33545200	C	T	BBS9	c.2241C>T	NM_198428.2	NP_940820.1:p.(Asp747=)	NC_000007.13:g.33545200C>T	(Likely) benign	1 lab	a3b722c7cd
X:120008831 CT47B1 C>A	X	120008831	120008831	C	A	CT47B1	c.694G>T	NM_001145718.1	NP_001139190.1:p.(Ala232Ser)	NC_000023.10:g.120008831C>A	(Likely) benign	1 lab	a3b7fc41de
X:49084897 CACNA1F TC>T	X	49084897	49084899	TC	T	CACNA1F	c.829del	NM_001256789.3	NP_001243718.1:p.(Glu277ArgfsTer18)	NC_000023.10:g.49084899del	(Likely) pathogenic	1 lab	a3b87fce3d
14:104641730 KIF26A G>C	14	104641730	104641730	G	C	KIF26A	c.2605G>C	NM_015656.1	NP_056471.1:p.(Ala869Pro)	NC_000014.8:g.104641730G>C	(Likely) benign	1 lab	a3b8b635d1
21:44274662 WDR4 C>T	21	44274662	44274662	C	T	WDR4	c.791+10G>A	NM_033661.4	NP_387510.1:p.?	NC_000021.8:g.44274662C>T	(Likely) benign	1 lab	a3bac100ff
3:10452400 ATP2B2 C>T	3	10452400	10452400	C	T	ATP2B2	c.299G>A	NM_001330611.2	NP_001317540.1:p.(Trp100Ter)	NC_000003.11:g.10452400C>T	(Likely) pathogenic	1 lab	a3bb32c3d0
X:106765680 FRMPD3 A>G	X	106765680	106765680	A	G	FRMPD3	c.1A>G	NM_032428.2	NP_115804.1:p.(Met1?)	NC_000023.10:g.106765680A>G	VUS	1 lab	a3bba6b4b2
11:113934160 ZBTB16 C>T	11	113934160	113934160	C	T	ZBTB16	c.138C>T	NM_006006.5	NP_005997.2:p.(His46=)	NC_000011.9:g.113934160C>T	(Likely) benign	1 lab	a3bd62d33e
3:52485444 TNNC1 G>A	3	52485444	52485444	G	A	TNNC1	c.417C>T	NM_003280.2	NP_003271.1:p.(Asp139=)	NC_000003.11:g.52485444G>A	(Likely) benign	1 lab	a3bfc67443
18:43479412 EPG5 C>T	18	43479412	43479412	C	T	EPG5	c.4766G>A	NM_020964.3	NP_066015.2:p.(Ser1589Asn)	NC_000018.9:g.43479412C>T	(Likely) benign	1 lab	a3c036de1b
4:111397929 ENPEP G>C	4	111397929	111397929	G	C	ENPEP	c.359G>C	NM_001977.4	NP_001968.3:p.(Ser120Thr)	NC_000004.11:g.111397929G>C	(Likely) benign	1 lab	a3c0bf8706
19:45515246 RELB G>A	19	45515246	45515246	G	A	RELB	c.216G>A	NM_006509.4	NP_006500.2:p.(Gln72=)	NC_000019.9:g.45515246G>A	(Likely) benign	1 lab	a3c1737d3d
6:169637428 THBS2 G>A	6	169637428	169637428	G	A	THBS2	c.1314C>T	NM_003247.3	NP_003238.2:p.(Gly438=)	NC_000006.11:g.169637428G>A	(Likely) benign	1 lab	a3c31b9d8e
5:60821784 ZSWIM6 C>A	5	60821784	60821784	C	A	ZSWIM6	c.1671C>A	NM_020928.1	NP_065979.1:p.(Arg557=)	NC_000005.9:g.60821784C>A	(Likely) benign	1 lab	a3c594171e
11:118899043 SLC37A4 G>A	11	118899043	118899043	G	A	SLC37A4	c.242C>T	NM_001164277.1	NP_001157749.1:p.(Ser81Phe)	NC_000011.9:g.118899043G>A	VUS	1 lab	a3c6514e3f
1:6520124 ESPN G>GGAC	1	6520124	6520128	G	GGAC	ESPN	c.2485_2487dup	NM_031475.3	NP_113663.2:p.(Thr829dup)	NC_000001.10:g.6520126_6520128dup	VUS	1 lab	a3c6dc3877
18:6999918 LAMA1 G>A	18	6999918	6999918	G	A	LAMA1	c.4461C>T	NM_005559.3	NP_005550.2:p.(His1487=)	NC_000018.9:g.6999918G>A	(Likely) benign	1 lab	a3c75bdc9a
7:48392054 ABCA13 C>T	7	48392054	48392054	C	T	ABCA13	c.10658C>T	NM_152701.4	NP_689914.3:p.(Ala3553Val)	NC_000007.13:g.48392054C>T	VUS	1 lab	a3c8240215
2:233385321 PRSS56 G>A	2	233385321	233385321	G	A	PRSS56	c.13G>A	NM_001195129.1	NP_001182058.1:p.(Val5Met)	NC_000002.11:g.233385321G>A	(Likely) benign	1 lab	a3c95edeb8
X:18915374 PHKA2 C>A	X	18915374	18915374	C	A	PHKA2	c.3189G>T	NM_000292.2	NP_000283.1:p.(Arg1063=)	NC_000023.10:g.18915374C>A	(Likely) benign	1 lab	a3cacf18a4
3:49699402 BSN T>C	3	49699402	49699402	T	C	BSN	c.10124T>C	NM_003458.3	NP_003449.2:p.(Ile3375Thr)	NC_000003.11:g.49699402T>C	VUS	1 lab	a3cadc3f75
6:158569911 SERAC1 C>T	6	158569911	158569911	C	T	SERAC1	c.341G>A	NM_032861.3	NP_116250.3:p.(Arg114Gln)	NC_000006.11:g.158569911C>T	(Likely) benign	1 lab	a3cb98dee9
21:45919690 TSPEAR C>G	21	45919690	45919690	C	G	TSPEAR	c.1782G>C	NM_001272037.1	NP_001258966.1:p.(Arg594Ser)	NC_000021.8:g.45919690C>G	VUS	1 lab	a3cbd6f53f
16:1575940 IFT140 G>A	16	1575940	1575940	G	A	IFT140	c.2716C>T	NM_014714.3	NP_055529.2:p.(Arg906Cys)	NC_000016.9:g.1575940G>A	VUS	1 lab	a3cd9ff0d2
2:43452666 ZFP36L2 C>T	2	43452666	43452666	C	T	ZFP36L2	c.277G>A	NM_006887.5	NP_008818.3:p.(Gly93Ser)	NC_000002.11:g.43452666C>T	(Likely) benign	1 lab	a3ce3c8593
11:58892376 FAM111B C>CA	11	58892376	58892386	C	CA	FAM111B	c.816dup	NM_198947.3	NP_945185.1:p.(Ala273SerfsTer9)	NC_000011.9:g.58892386dup	VUS	1 lab	a3cf0d920f
2:145161654 ZEB2 G>A	2	145161654	145161654	G	A	ZEB2	c.636C>T	NM_014795.3	NP_055610.1:p.(Thr212=)	NC_000002.11:g.145161654G>A	(Likely) benign	1 lab	a3cf4b6d54
11:67764088 UNC93B1 G>A	11	67764088	67764088	G	A	UNC93B1	c.1074C>T	NM_030930.2	NP_112192.2:p.(Cys358=)	NC_000011.9:g.67764088G>A	(Likely) benign	1 lab	a3d0bdcd30
9:119461480 TRIM32 G>A	9	119461480	119461480	G	A	TRIM32	c.1459G>A	NM_012210.3	NP_036342.2:p.(Asp487Asn)	NC_000009.11:g.119461480G>A	(Likely) pathogenic	1 lab	a3d10df2cf
15:23891451 MAGEL2 C>T	15	23891451	23891451	C	T	MAGEL2	c.1439G>A	NM_019066.4	NP_061939.3:p.(Arg480His)	NC_000015.9:g.23891451C>T	VUS	1 lab	a3d26a1483
8:145013568 PLEC G>A	8	145013568	145013568	G	A	PLEC	c.62C>T	NM_201384.2	NP_958786.1:p.(Ser21Leu)	NC_000008.10:g.145013568G>A	VUS	1 lab	a3d3ade8dd
3:181430711 SOX2 C>T	3	181430711	181430711	C	T	SOX2				NC_000003.11:g.181430711C>T	VUS	1 lab	a3d54a0b2b
16:17564397 XYLT1 C>T	16	17564397	17564397	C	T	XYLT1	c.257G>A	NM_022166.3	NP_071449.1:p.(Gly86Glu)	NC_000016.9:g.17564397C>T	(Likely) benign	1 lab	a3d55236e6
X:135076970 SLC9A6 G>T	X	135076970	135076970	G	T	SLC9A6	c.351G>T	NM_001042537.1	NP_001036002.1:p.(Arg117=)	NC_000023.10:g.135076970G>T	(Likely) benign	1 lab	a3d5729da0
13:110864975 COL4A1 C>T	13	110864975	110864975	C	T	COL4A1	c.280-10G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110864975C>T	(Likely) benign	1 lab	a3d9d918af
22:51121773 MISSING C>T	22	51121773	51121773	C	T	MISSING				NC_000022.10:g.51121773C>T	(Likely) benign	1 lab	a3d9f0b8c4
11:720712 EPS8L2 C>T	11	720712	720712	C	T	EPS8L2	c.443C>T	NM_022772.3	NP_073609.2:p.(Pro148Leu)	NC_000011.9:g.720712C>T	VUS	1 lab	a3da11e84e
5:1221818 SLC6A19 G>A	5	1221818	1221818	G	A	SLC6A19	c.1704G>A	NM_001003841.2	NP_001003841.1:p.(Glu568=)	NC_000005.9:g.1221818G>A	(Likely) benign	1 lab	a3f97b5ab8
3:70014114 MITF C>T	3	70014114	70014114	C	T	MITF	c.1227C>T	NM_001354607.1	NP_001341536.1:p.(Ser409=)	NC_000003.11:g.70014114C>T	(Likely) benign	1 lab	a3dbce22f8
2:88991299 RPIA G>C	2	88991299	88991299	G	C	RPIA	c.83G>C	NM_144563.2	NP_653164.2:p.(Gly28Ala)	NC_000002.11:g.88991299G>C	VUS	1 lab	a3dc787de7
17:32964975 TMEM132E G>T	17	32964975	32964975	G	T	TMEM132E	c.2949G>T	NM_001304438.1	NP_001291367.1:p.(Val983=)	NC_000017.10:g.32964975G>T	(Likely) benign	1 lab	a3deed5c1f
9:13183529 MPDZ G>C	9	13183529	13183529	G	C	MPDZ	c.2537C>G	NM_003829.4	NP_003820.2:p.(Ser846Cys)	NC_000009.11:g.13183529G>C	VUS	1 lab	a3deff43d6
20:3870268 PANK2 C>T	20	3870268	3870268	C	T	PANK2	c.521C>T	NM_153638.2	NP_705902.2:p.(Ala174Val)	NC_000020.10:g.3870268C>T	(Likely) benign	1 lab	a3df164040
10:27497250 ACBD5 C>T	10	27497250	27497250	C	T	ACBD5	c.1224G>A	NM_001352579.1	NP_001339508.1:p.(Val408=)	NC_000010.10:g.27497250C>T	(Likely) benign	1 lab	a3df723930
14:23887513 MYH7 G>A	14	23887513	23887513	G	A	MYH7	c.4075C>T	NM_000257.2	NP_000248.2:p.(Arg1359Cys)	NC_000014.8:g.23887513G>A	(Likely) pathogenic	1 lab	a3e19d23a4
3:4856087 ITPR1 G>A	3	4856087	4856087	G	A	ITPR1	c.7418-20G>A	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4856087G>A	(Likely) benign	1 lab	a3e2038885
8:87588079 CNGB3 C>T	8	87588079	87588079	C	T	CNGB3	c.2383G>A	NM_019098.4	NP_061971.3:p.(Gly795Arg)	NC_000008.10:g.87588079C>T	(Likely) benign	1 lab	a3e206d8b7
16:4848560 ROGDI G>A	16	4848560	4848560	G	A	ROGDI	c.531+10C>T	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4848560G>A	(Likely) benign	1 lab	a3e293d6f8
7:152345950 XRCC2 T>C	7	152345950	152345950	T	C	XRCC2	c.620A>G	NM_005431.1	NP_005422.1:p.(Glu207Gly)	NC_000007.13:g.152345950T>C	(Likely) benign	1 lab	a3e301cb0f
12:133357405 GOLGA3 C>G	12	133357405	133357405	C	G	GOLGA3	c.3561G>C	NM_005895.3	NP_005886.2:p.(Lys1187Asn)	NC_000012.11:g.133357405C>G	VUS	1 lab	a3e303a2b9
X:100356092 CENPI G>A	X	100356092	100356092	G	A	CENPI	c.33G>A	NM_006733.3	NP_006724.2:p.(Gln11=)	NC_000023.10:g.100356092G>A	(Likely) benign	1 lab	a3e487fd0e
17:79478485 ACTG1 A>G	17	79478485	79478485	A	G	ACTG1	c.531T>C	NM_001199954.2	NP_001186883.1:p.(Arg177=)	NC_000017.10:g.79478485A>G	(Likely) benign	1 lab	a3e5035cb0
9:20995555 FOCAD C>T	9	20995555	20995555	C	T	FOCAD	c.5333C>T	NM_017794.4	NP_060264.4:p.(Ala1778Val)	NC_000009.11:g.20995555C>T	(Likely) benign	1 lab	a3e525e0f1
1:12364656 VPS13D G>A	1	12364656	12364656	G	A	VPS13D	c.6310G>A	NM_015378.4	NP_056193.2:p.(Gly2104Arg)	NC_000001.10:g.12364656G>A	(Likely) benign	1 lab	a3e5624bc8
17:29661984 NF1 AT>A	17	29661984	29661985	AT	A	NF1	c.5942del	NM_001042492.3	NP_001035957.1:p.(Met1981ArgfsTer31)	NC_000017.10:g.29661985del	(Likely) pathogenic	1 lab	a3e59a678c
X:103499014 ESX1 C>G	X	103499014	103499014	C	G	ESX1	c.327G>C	NM_153448.3	NP_703149.1:p.(Glu109Asp)	NC_000023.10:g.103499014C>G	(Likely) benign	1 lab	a3e5de8a88
18:33611062 RPRD1A TA>T	18	33611062	33611077	TA	T	RPRD1A	c.282-3del	NM_018170.5	NP_060640.2:p.?	NC_000018.9:g.33611077del	(Likely) benign	1 lab	a3e6ce3d64
4:187518039 FAT1 T>C	4	187518039	187518039	T	C	FAT1	c.12655A>G	NM_005245.3	NP_005236.2:p.(Lys4219Glu)	NC_000004.11:g.187518039T>C	VUS	1 lab	a3e7ca8031
11:116969093 MISSING G>A	11	116969093	116969093	G	A	MISSING				NC_000011.9:g.116969093G>A	(Likely) benign	1 lab	a3e821353b
1:173930949 RC3H1 G>A	1	173930949	173930949	G	A	RC3H1	c.2116C>T	NM_001300850.1	NP_001287779.1:p.(Pro706Ser)	NC_000001.10:g.173930949G>A	VUS	1 lab	a3e8bc154b
6:7585410 DSP C>T	6	7585410	7585410	C	T	DSP	c.7915C>T	NM_004415.2	NP_004406.2:p.(Arg2639Trp)	NC_000006.11:g.7585410C>T	VUS	1 lab	a3ed566834
20:57428948 GNAS G>T	20	57428948	57428948	G	T	GNAS	c.441G>T	NM_001077490.2	NP_001070958.1:p.(Arg147Ser)	NC_000020.10:g.57428948G>T	(Likely) benign	1 lab	a3efafea59
6:30859199 DDR1 A>G	6	30859199	30859199	A	G	DDR1	c.608A>G	NM_001297652.1	NP_001284581.1:p.(Tyr203Cys)	NC_000006.11:g.30859199A>G	(Likely) benign	1 lab	a3f0098260
14:88459304 GALC T>C	14	88459304	88459304	T	C	GALC	c.195+10A>G	NM_000153.3	NP_000144.2:p.?	NC_000014.8:g.88459304T>C	(Likely) benign	1 lab	bf28f7991e
9:133577658 EXOSC2 C>T	9	133577658	133577658	C	T	EXOSC2	c.633C>T	NM_014285.7	NP_055100.2:p.(His211=)	NC_000009.11:g.133577658C>T	(Likely) benign	1 lab	a3f20489aa
1:150525907 ADAMTSL4 G>A	1	150525907	150525907	G	A	ADAMTSL4	c.440G>A	NM_001288608.1	NP_001275537.1:p.(Arg147Gln)	NC_000001.10:g.150525907G>A	VUS	1 lab	a3f2cb09cd
5:112178032 APC T>C	5	112178032	112178032	T	C	APC				NC_000005.9:g.112178032T>C	(Likely) benign	1 lab	a3f2d2c095
5:82815406 VCAN T>C	5	82815406	82815406	T	C	VCAN	c.1281T>C	NM_004385.4	NP_004376.2:p.(Thr427=)	NC_000005.9:g.82815406T>C	(Likely) benign	1 lab	a3f39093be
16:2231297 CASKIN1 C>T	16	2231297	2231297	C	T	CASKIN1	c.2072G>A	NM_020764.3	NP_065815.1:p.(Arg691Gln)	NC_000016.9:g.2231297C>T	VUS	1 lab	a3f487563a
21:47783798 PCNT C>T	21	47783798	47783798	C	T	PCNT	c.2558C>T	NM_006031.5	NP_006022.3:p.(Ala853Val)	NC_000021.8:g.47783798C>T	(Likely) benign	1 lab	a3f55e6316
2:179485253 TTN A>G	2	179485253	179485253	A	G	TTN	c.45995T>C	NM_001267550.1	NP_001254479.1:p.(Leu15332Pro)	NC_000002.11:g.179485253A>G	VUS	1 lab	a3f6200b24
16:2168341 PKD1 C>T	16	2168341	2168341	C	T	PKD1	c.652G>A	NM_001009944.2	NP_001009944.2:p.(Gly218Ser)	NC_000016.9:g.2168341C>T	(Likely) benign	1 lab	a3f723f56d
3:134225962 CEP63 C>T	3	134225962	134225962	C	T	CEP63	c.56C>T	NM_025180.4	NP_079456.2:p.(Thr19Ile)	NC_000003.11:g.134225962C>T	VUS	1 lab	a3f84e4371
1:152281830 FLG G>T	1	152281830	152281830	G	T	FLG	c.5532C>A	NM_002016.1	NP_002007.1:p.(Ser1844Arg)	NC_000001.10:g.152281830G>T	(Likely) benign	1 lab	a3f8b8e459
11:45827491 SLC35C1 C>T	11	45827491	45827491	C	T	SLC35C1	c.139C>T	NM_018389.4	NP_060859.4:p.(Leu47Phe)	NC_000011.9:g.45827491C>T	VUS	1 lab	a3f91a45dc
8:61654835 CHD7 C>T	8	61654835	61654835	C	T	CHD7				NC_000008.10:g.61654835C>T	(Likely) pathogenic	1 lab	a4c29fb311
15:62212445 VPS13C G>C	15	62212445	62212445	G	C	VPS13C	c.7298C>G	NM_001018088.2	NP_001018098.1:p.(Pro2433Arg)	NC_000015.9:g.62212445G>C	VUS	1 lab	a3fa187d04
4:123108615 BLTP1 C>G	4	123108615	123108615	C	G	BLTP1	c.575C>G	NM_015312.3	NP_056127.2:p.(Pro192Arg)	NC_000004.11:g.123108615C>G	VUS	1 lab	a3fab413f0
6:43014614 CUL7 T>G	6	43014614	43014614	T	G	CUL7	c.2649+4A>C	NM_001168370.1	NP_001161842.1:p.?	NC_000006.11:g.43014614T>G	VUS	1 lab	a3fabb2281
1:213062551 FLVCR1 G>A	1	213062551	213062551	G	A	FLVCR1	c.1477G>A	NM_014053.3	NP_054772.1:p.(Gly493Arg)	NC_000001.10:g.213062551G>A	(Likely) pathogenic	1 lab	a3fc385e9c
12:2789626 CACNA1C C>T	12	2789626	2789626	C	T	CACNA1C	c.5509C>T	NM_001167625.1	NP_001161097.1:p.(Leu1837=)	NC_000012.11:g.2789626C>T	(Likely) benign	1 lab	a3fe8b7215
17:79096362 AATK G>A	17	79096362	79096362	G	A	AATK	c.1374C>T	NM_001080395.2	NP_001073864.2:p.(Phe458=)	NC_000017.10:g.79096362G>A	(Likely) benign	1 lab	a3ff02e0b4
6:33406324 SYNGAP1 C>G	6	33406324	33406324	C	G	SYNGAP1	c.1515C>G	NM_006772.2	NP_006763.2:p.(Tyr505Ter)	NC_000006.11:g.33406324C>G	(Likely) pathogenic	1 lab	a401ea4323
17:29553654 NF1 TATAA>T	17	29553654	29553658	TATAA	T	NF1	c.2204_2207del	NM_001042492.3	NP_001035957.1:p.(Tyr735SerfsTer12)	NC_000017.10:g.29553655_29553658del	(Likely) pathogenic	1 lab	a40260b30e
8:145640216 SLC39A4 G>A	8	145640216	145640216	G	A	SLC39A4	c.794C>T	NM_017767.2	NP_060237.2:p.(Pro265Leu)	NC_000008.10:g.145640216G>A	VUS	1 lab	a405766905
9:139438538 NOTCH1 C>T	9	139438538	139438538	C	T	NOTCH1	c.78G>A	NM_017617.5	NP_060087.3:p.(Gln26=)	NC_000009.11:g.139438538C>T	(Likely) benign	1 lab	a4061ac2d7
5:178413222 GRM6 A>T	5	178413222	178413222	A	T	GRM6	c.2033T>A	NM_000843.4	NP_000834.2:p.(Ile678Asn)	NC_000005.9:g.178413222A>T	VUS	1 lab	a406483724
1:203013135 PPFIA4 C>T	1	203013135	203013135	C	T	PPFIA4	c.413C>T	NM_001304331.1	NP_001291260.1:p.(Ala138Val)	NC_000001.10:g.203013135C>T	(Likely) benign	1 lab	a408e8ff00
2:28081439 RBKS C>G	2	28081439	28081439	C	G	RBKS	c.90-1G>C	NM_022128.3	NP_071411.1:p.?	NC_000002.11:g.28081439C>G	(Likely) benign	1 lab	a408eb1be4
2:98351725 ZAP70 C>T	2	98351725	98351725	C	T	ZAP70	c.1095C>T	NM_001079.3	NP_001070.2:p.(Asp365=)	NC_000002.11:g.98351725C>T	(Likely) benign	1 lab	a4092ebd3d
5:90151631 ADGRV1 A>G	5	90151631	90151631	A	G	ADGRV1	c.17668A>G	NM_032119.4	NP_115495.3:p.(Met5890Val)	NC_000005.9:g.90151631A>G	VUS	1 lab	a409329688
10:92679958 ANKRD1 G>A	10	92679958	92679958	G	A	ANKRD1	c.175C>T	NM_014391.2	NP_055206.2:p.(Gln59Ter)	NC_000010.10:g.92679958G>A	(Likely) pathogenic	1 lab	a40aa3071e
11:134014779 JAM3 C>T	11	134014779	134014779	C	T	JAM3	c.502C>T	NM_032801.4	NP_116190.3:p.(Arg168Trp)	NC_000011.9:g.134014779C>T	VUS	1 lab	a40beab052
X:142795287 SPANXN2 A>G	X	142795287	142795287	A	G	SPANXN2	c.391T>C	NM_001009615.2	NP_001009615.1:p.(Ser131Pro)	NC_000023.10:g.142795287A>G	(Likely) benign	1 lab	a40e59448b
10:21108396 NEBL G>A	10	21108396	21108396	G	A	NEBL	c.2012C>T	NM_006393.2	NP_006384.1:p.(Pro671Leu)	NC_000010.10:g.21108396G>A	VUS	1 lab	a40f4bb546
19:9089381 MUC16 A>G	19	9089381	9089381	A	G	MUC16	c.2434T>C	NM_024690.2	NP_078966.2:p.(Ser812Pro)	NC_000019.9:g.9089381A>G	VUS	1 lab	a40f9d1a88
X:108647558 GUCY2F T>G	X	108647558	108647558	T	G	GUCY2F	c.2124A>C	NM_001522.2	NP_001513.2:p.(Glu708Asp)	NC_000023.10:g.108647558T>G	(Likely) benign	1 lab	a4102d4277
21:47766130 PCNT G>A	21	47766130	47766130	G	A	PCNT	c.720+8G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47766130G>A	(Likely) benign	1 lab	a412fb7876
17:48655577 CACNA1G C>T	17	48655577	48655577	C	T	CACNA1G	c.1953C>T	NM_018896.4	NP_061496.2:p.(Ser651=)	NC_000017.10:g.48655577C>T	(Likely) benign	1 lab	a41322f046
16:50733699 NOD2 C>T	16	50733699	50733699	C	T	NOD2	c.374C>T	NM_022162.1	NP_071445.1:p.(Pro125Leu)	NC_000016.9:g.50733699C>T	(Likely) benign	1 lab	a413dd1e3d
4:5633673 EVC2 T>C	4	5633673	5633673	T	C	EVC2	c.1317A>G	NM_001166136.1	NP_001159608.1:p.(Glu439=)	NC_000004.11:g.5633673T>C	(Likely) benign	1 lab	a414179946
2:170099526 LRP2 C>T	2	170099526	170099526	C	T	LRP2	c.3607G>A	NM_004525.3	NP_004516.2:p.(Val1203Ile)	NC_000002.11:g.170099526C>T	(Likely) benign	1 lab	a41445979b
20:60868966 OSBPL2 C>G	20	60868966	60868966	C	G	OSBPL2	c.1066C>G	NM_001278649.1	NP_001265578.1:p.(Arg356Gly)	NC_000020.10:g.60868966C>G	(Likely) benign	1 lab	a414c29db5
2:27601345 ZNF513 C>A	2	27601345	27601345	C	A	ZNF513	c.788G>T	NM_144631.5	NP_653232.3:p.(Arg263Leu)	NC_000002.11:g.27601345C>A	VUS	1 lab	a41619320c
6:138200391 TNFAIP3 G>T	6	138200391	138200391	G	T	TNFAIP3	c.1809G>T	NM_001270508.2	NP_001257437.1:p.(Gly603=)	NC_000006.11:g.138200391G>T	VUS	1 lab	a416b672fa
X:6452197 VCX3A G>A	X	6452197	6452197	G	A	VCX3A	c.150C>T	NM_016379.3	NP_057463.2:p.(Arg50=)	NC_000023.10:g.6452197G>A	(Likely) benign	1 lab	a417abec35
18:52896236 TCF4 T>G	18	52896236	52896236	T	G	TCF4	c.1721A>C	NM_001083962.1	NP_001077431.1:p.(Asn574Thr)	NC_000018.9:g.52896236T>G	(Likely) pathogenic	1 lab	a41af15c44
X:26212019 MAGEB6 A>G	X	26212019	26212019	A	G	MAGEB6	c.56A>G	NM_173523.2	NP_775794.2:p.(Asn19Ser)	NC_000023.10:g.26212019A>G	(Likely) benign	1 lab	a41c4ac2bd
X:41075160 USP9X C>T	X	41075160	41075160	C	T	USP9X	c.5340C>T	NM_001039591.3	NP_001034680.2:p.(Thr1780=)	NC_000023.10:g.41075160C>T	(Likely) benign	1 lab	a41d60ef39
6:108204348 SEC63 T>C	6	108204348	108204348	T	C	SEC63	c.1677A>G	NM_007214.4	NP_009145.1:p.(Glu559=)	NC_000006.11:g.108204348T>C	(Likely) benign	1 lab	a4212bb239
X:2343264 DHRSX G>A	X	2343264	2343264	G	A	DHRSX	c.191C>T	NM_145177.2	NP_660160.2:p.(Ala64Val)	NC_000023.10:g.2343264G>A	VUS	1 lab	a42174e8c8
X:96354788 DIAPH2 A>T	X	96354788	96354788	A	T	DIAPH2	c.2343A>T	NM_006729.4	NP_006720.1:p.(Gly781=)	NC_000023.10:g.96354788A>T	(Likely) benign	1 lab	a421f500f7
X:7177724 STS G>A	X	7177724	7177724	G	A	STS	c.753G>A	NM_001320750.1	NP_001307679.1:p.(Met251Ile)	NC_000023.10:g.7177724G>A	(Likely) benign	1 lab	a424a867f9
X:84363585 SATL1 GT>G	X	84363585	84363587	GT	G	SATL1	c.389del	NM_001367857.2	NP_001354786.1:p.(Asn130ThrfsTer5)	NC_000023.10:g.84363587del	VUS	1 lab	a42527b6e8
18:14106009 ZNF519 A>T	18	14106009	14106009	A	T	ZNF519	c.530T>A	NM_145287.3	NP_660330.2:p.(Leu177Gln)	NC_000018.9:g.14106009A>T	VUS	1 lab	a42527b8c0
X:77298212 ATP7A A>G	X	77298212	77298212	A	G	ATP7A	c.3931A>G	NM_000052.6	NP_000043.4:p.(Met1311Val)	NC_000023.10:g.77298212A>G	(Likely) benign	1 lab	a4253953cd
2:48915449 LHCGR A>G	2	48915449	48915449	A	G	LHCGR	c.1487T>C	NM_000233.3	NP_000224.2:p.(Leu496Pro)	NC_000002.11:g.48915449A>G	VUS	1 lab	a425c5917a
22:41572960 EP300 C>T	22	41572960	41572960	C	T	EP300	c.5245C>T	NM_001429.3	NP_001420.2:p.(Arg1749Trp)	NC_000022.10:g.41572960C>T	VUS	1 lab	a42605ac18
1:144994722 PDE4DIP C>T	1	144994722	144994722	C	T	PDE4DIP	c.10G>A	NM_014644.5	NP_055459.5:p.(Gly4Arg)	NC_000001.10:g.144994722C>T	VUS	1 lab	a4277974a3
X:47307723 ZNF41 G>C	X	47307723	47307723	G	C	ZNF41	c.1446C>G	NM_007130.3	NP_009061.1:p.(Leu482=)	NC_000023.10:g.47307723G>C	(Likely) benign	1 lab	a428060fa4
X:114424819 RBMXL3 A>G	X	114424819	114424819	A	G	RBMXL3	c.815A>G	NM_001145346.1	NP_001138818.1:p.(Tyr272Cys)	NC_000023.10:g.114424819A>G	VUS	1 lab	a42898ba17
15:66994830 SMAD6 C>T	15	66994830	66994830	C	T	SMAD6	n.157C>T	NR_027654.1		NC_000015.9:g.66994830C>T	(Likely) benign	1 lab	a42964411d
X:132436908 GPC4 C>T	X	132436908	132436908	C	T	GPC4	c.1658G>A	NM_001448.2	NP_001439.2:p.(Arg553Lys)	NC_000023.10:g.132436908C>T	(Likely) benign	1 lab	a429ad407c
14:35497306 SRP54 C>G	14	35497306	35497306	C	G	SRP54	c.1193C>G	NM_001146282.1	NP_001139754.1:p.(Ser398Cys)	NC_000014.8:g.35497306C>G	VUS	1 lab	a429fad99b
X:71379768 MISSING A>G	X	71379768	71379768	A	G	MISSING				NC_000023.10:g.71379768A>G	VUS	1 lab	a42a71891b
10:55569242 PCDH15 ACTT>A	10	55569242	55569249	ACTT	A	PCDH15	c.4671+1071_4671+1073del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55569247_55569249del	VUS	1 lab	a42aa6fab5
8:61761699 CHD7 G>A	8	61761699	61761699	G	A	CHD7				NC_000008.10:g.61761699G>A	(Likely) pathogenic	1 lab	a42b522526
10:68280415 CTNNA3 T>C	10	68280415	68280415	T	C	CTNNA3	c.1491A>G	NM_013266.3	NP_037398.2:p.(Val497=)	NC_000010.10:g.68280415T>C	(Likely) benign	1 lab	a42d175e9c
15:90185557 KIF7 G>A	15	90185557	90185557	G	A	KIF7	c.2271C>T	NM_198525.2	NP_940927.2:p.(Ala757=)	NC_000015.9:g.90185557G>A	(Likely) benign	1 lab	a42d1f6767
17:29541572 NF1 T>C	17	29541572	29541572	T	C	NF1	c.1496T>C	NM_000267.3	NP_000258.1:p.(Leu499Pro)	NC_000017.10:g.29541572T>C	VUS	1 lab	a42d249328
7:99703612 AP4M1 C>T	7	99703612	99703612	C	T	AP4M1	c.960C>T	NM_004722.3	NP_004713.2:p.(Asp320=)	NC_000007.13:g.99703612C>T	(Likely) benign	1 lab	a4317706a4
2:206994851 NDUFS1 G>A	2	206994851	206994851	G	A	NDUFS1	c.1669C>T	NM_005006.6	NP_004997.4:p.(Arg557Ter)	NC_000002.11:g.206994851G>A	(Likely) pathogenic	1 lab	a432067c8f
X:117053554 KLHL13 G>A	X	117053554	117053554	G	A	KLHL13	c.500C>T	NM_033495.3	NP_277030.2:p.(Thr167Met)	NC_000023.10:g.117053554G>A	VUS	1 lab	a43208f7b0
17:78083787 GAA C>A	17	78083787	78083787	C	A	GAA	c.1370C>A	NM_000152.3	NP_000143.2:p.(Pro457His)	NC_000017.10:g.78083787C>A	(Likely) pathogenic	1 lab	a4320e92bc
13:32914851 BRCA2 C>T	13	32914851	32914851	C	T	BRCA2	c.6359C>T	NM_000059.3	NP_000050.2:p.(Ser2120Leu)	NC_000013.10:g.32914851C>T	(Likely) benign	1 lab	a43785d38c
12:91449255 KERA T>G	12	91449255	91449255	T	G	KERA	c.804A>C	NM_007035.3	NP_008966.1:p.(Gln268His)	NC_000012.11:g.91449255T>G	VUS	1 lab	a43955a575
8:11152805 MTMR9 C>T	8	11152805	11152805	C	T	MTMR9	c.285C>T	NM_015458.4	NP_056273.2:p.(Ser95=)	NC_000008.10:g.11152805C>T	(Likely) benign	1 lab	a43e030f3b
20:25394425 GINS1 G>A	20	25394425	25394425	G	A	GINS1	c.76-1G>A	NM_021067.5	NP_066545.3:p.?	NC_000020.10:g.25394425G>A	(Likely) pathogenic	1 lab	a43eddeddb
16:84043392 SLC38A8 G>C	16	84043392	84043392	G	C	SLC38A8	c.1305C>G	NM_001080442.2	NP_001073911.1:p.(Phe435Leu)	NC_000016.9:g.84043392G>C	(Likely) benign	1 lab	a43ff6c551
1:181701834 MISSING G>T	1	181701834	181701834	G	T	MISSING				NC_000001.10:g.181701834G>T	(Likely) benign	1 lab	a4422307be
X:110653338 DCX G>C	X	110653338	110653338	G	C	DCX	c.532C>G	NM_000555.3	NP_000546.2:p.(Leu178Val)	NC_000023.10:g.110653338G>C	VUS	1 lab	a442820930
17:29653293 NF1 T>C	17	29653293	29653293	T	C	NF1	c.5205+23T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653293T>C	(Likely) benign	1 lab	a442c419e0
1:43904404 SZT2 A>G	1	43904404	43904404	A	G	SZT2	c.6372A>G	NM_015284.3	NP_056099.3:p.(Leu2124=)	NC_000001.10:g.43904404A>G	(Likely) benign	1 lab	a442dee79d
1:228399980 OBSCN G>A	1	228399980	228399980	G	A	OBSCN	c.496G>A	NM_001271223.2	NP_001258152.2:p.(Ala166Thr)	NC_000001.10:g.228399980G>A	(Likely) benign	1 lab	a4467ad2cb
1:27876319 AHDC1 C>T	1	27876319	27876319	C	T	AHDC1	c.2308G>A	NM_001029882.3	NP_001025053.1:p.(Gly770Arg)	NC_000001.10:g.27876319C>T	VUS	1 lab	a446e08303
2:179413638 TTN G>A	2	179413638	179413638	G	A	TTN	c.92715C>T	NM_001267550.1	NP_001254479.1:p.(Gly30905=)	NC_000002.11:g.179413638G>A	VUS	1 lab	a4490902bf
X:48382181 EBP T>C	X	48382181	48382181	T	C	EBP	c.22T>C	NM_006579.2	NP_006570.1:p.(Leu8=)	NC_000023.10:g.48382181T>C	(Likely) benign	1 lab	a449104b5c
20:10633183 JAG1 G>A	20	10633183	10633183	G	A	JAG1	c.819C>T	NM_000214.3	NP_000205.1:p.(His273=)	NC_000020.10:g.10633183G>A	(Likely) benign	1 lab	a449d6de3b
22:40760298 ADSL C>T	22	40760298	40760298	C	T	ADSL	c.1120C>T	NM_000026.3	NP_000017.1:p.(Arg374Trp)	NC_000022.10:g.40760298C>T	VUS	1 lab	a44a811fb4
21:46888337 COL18A1 C>T	21	46888337	46888337	C	T	COL18A1	c.288C>T	NM_130445.2	NP_569712.2:p.(Phe96=)	NC_000021.8:g.46888337C>T	(Likely) benign	1 lab	a44e5c887f
21:47848471 PCNT G>C	21	47848471	47848471	G	C	PCNT	c.7657G>C	NM_006031.5	NP_006022.3:p.(Gly2553Arg)	NC_000021.8:g.47848471G>C	VUS	1 lab	a44f91c558
X:152813433 ATP2B3 C>T	X	152813433	152813433	C	T	ATP2B3	c.1099C>T	NM_021949.3	NP_068768.2:p.(Leu367=)	NC_000023.10:g.152813433C>T	(Likely) benign	1 lab	a44f9215cd
16:47732440 PHKB A>G	16	47732440	47732440	A	G	PHKB	c.3064A>G	NM_001031835.2	NP_001027005.1:p.(Lys1022Glu)	NC_000016.9:g.47732440A>G	(Likely) benign	1 lab	a451b70712
1:120510113 NOTCH2 G>T	1	120510113	120510113	G	T	NOTCH2	c.1396C>A	NM_024408.3	NP_077719.2:p.(Gln466Lys)	NC_000001.10:g.120510113G>T	VUS	1 lab	a457967255
X:54012385 PHF8 G>A	X	54012385	54012385	G	A	PHF8	c.1996-3C>T	NM_015107.2	NP_055922.1:p.?	NC_000023.10:g.54012385G>A	(Likely) benign	1 lab	a458632491
4:65274946 TECRL A>T	4	65274946	65274946	A	T	TECRL	c.124T>A	NM_001010874.4	NP_001010874.2:p.(Ser42Thr)	NC_000004.11:g.65274946A>T	VUS	1 lab	a4586e1477
19:39208718 ACTN4 C>T	19	39208718	39208718	C	T	ACTN4	c.1291+4C>T	NM_004924.5	NP_004915.2:p.?	NC_000019.9:g.39208718C>T	(Likely) benign	1 lab	a459082e1f
3:27763177 EOMES G>A	3	27763177	27763177	G	A	EOMES	c.609C>T	NM_005442.3	NP_005433.2:p.(Pro203=)	NC_000003.11:g.27763177G>A	(Likely) benign	1 lab	a4590dd313
18:52901846 TCF4 C>G	18	52901846	52901846	C	G	TCF4	c.1419G>C	NM_001083962.1	NP_001077431.1:p.(Pro473=)	NC_000018.9:g.52901846C>G	(Likely) benign	1 lab	a4590fdcc2
11:62388051 B3GAT3 G>A	11	62388051	62388051	G	A	B3GAT3	c.175C>T	NM_001288723.1	NP_001275652.1:p.(Arg59Ter)	NC_000011.9:g.62388051G>A	(Likely) pathogenic	1 lab	a459bc80a8
19:40872540 PLD3 C>T	19	40872540	40872540	C	T	PLD3	c.51C>T	NM_012268.3	NP_036400.2:p.(Pro17=)	NC_000019.9:g.40872540C>T	(Likely) benign	1 lab	a459f020ef
5:155756603 SGCD G>A	5	155756603	155756603	G	A	SGCD	c.3+14G>A	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.155756603G>A	(Likely) benign	1 lab	a45a9ae52d
12:91449666 KERA A>G	12	91449666	91449666	A	G	KERA	c.393T>C	NM_007035.3	NP_008966.1:p.(Asn131=)	NC_000012.11:g.91449666A>G	(Likely) benign	1 lab	a45b4c8ed3
12:49436089 KMT2D C>T	12	49436089	49436089	C	T	KMT2D	c.5892G>A	NM_003482.3	NP_003473.3:p.(Pro1964=)	NC_000012.11:g.49436089C>T	(Likely) benign	1 lab	a45b6b21e2
X:123197725 STAG2 C>T	X	123197725	123197725	C	T	STAG2	c.1849C>T	NM_001042749.2	NP_001036214.1:p.(Arg617Trp)	NC_000023.10:g.123197725C>T	(Likely) benign	1 lab	a45cab0109
12:49484217 DHH C>G	12	49484217	49484217	C	G	DHH	c.616G>C	NM_021044.4	NP_066382.1:p.(Val206Leu)	NC_000012.11:g.49484217C>G	VUS	1 lab	a45e84d713
6:16327909 ATXN1 A>ATGC	6	16327909	16327914	A	ATGC	ATXN1	c.630_632dup	NM_000332.3	NP_000323.2:p.(Gln210dup)	NC_000006.11:g.16327912_16327914dup	(Likely) benign	1 lab	a45ec2a406
7:5752432 RNF216 C>T	7	5752432	5752432	C	T	RNF216	c.1896G>A	NM_207111.3	NP_996994.1:p.(Lys632=)	NC_000007.13:g.5752432C>T	(Likely) benign	1 lab	a4621590d4
8:11606462 GATA4 T>G	8	11606462	11606462	T	G	GATA4	c.651T>G	NM_002052.4	NP_002043.2:p.(Cys217Trp)	NC_000008.10:g.11606462T>G	VUS	1 lab	a465054459
X:13337051 ATXN3L G>A	X	13337051	13337051	G	A	ATXN3L	c.1003C>T	NM_001135995.1	NP_001129467.1:p.(Gln335Ter)	NC_000023.10:g.13337051G>A	VUS	1 lab	a46c8b185a
X:149671756 MAMLD1 C>T	X	149671756	149671756	C	T	MAMLD1	c.2253C>T	NM_005491.4	NP_005482.2:p.(Pro751=)	NC_000023.10:g.149671756C>T	(Likely) benign	1 lab	a46e83d695
2:170063415 LRP2 C>T	2	170063415	170063415	C	T	LRP2	c.6815G>A	NM_004525.3	NP_004516.2:p.(Arg2272His)	NC_000002.11:g.170063415C>T	VUS	1 lab	a46fb06a2d
X:57936499 ZXDA G>T	X	57936499	57936499	G	T	ZXDA	c.356C>A	NM_007156.4	NP_009087.1:p.(Ala119Glu)	NC_000023.10:g.57936499G>T	(Likely) benign	1 lab	a4702614c2
8:90993111 NBN C>T	8	90993111	90993111	C	T	NBN	c.85G>A	NM_001024688.2	NP_001019859.1:p.(Glu29Lys)	NC_000008.10:g.90993111C>T	VUS	1 lab	a47589f598
X:66765060 AR G>A	X	66765060	66765060	G	A	AR	c.72G>A	NM_000044.4	NP_000035.2:p.(Gln24=)	NC_000023.10:g.66765060G>A	(Likely) benign	1 lab	a4761c94c6
1:10713530 CASZ1 T>C	1	10713530	10713530	T	C	CASZ1	c.2584A>G	NM_001079843.3	NP_001073312.1:p.(Ile862Val)	NC_000001.10:g.10713530T>C	VUS	1 lab	a4777417c9
5:140432736 PCDHB1 A>G	5	140432736	140432736	A	G	PCDHB1	c.1681A>G	NM_013340.3	NP_037472.2:p.(Met561Val)	NC_000005.9:g.140432736A>G	(Likely) benign	1 lab	a479054573
1:216420119 USH2A C>T	1	216420119	216420119	C	T	USH2A	c.2617G>A	NM_206933.2	NP_996816.2:p.(Gly873Arg)	NC_000001.10:g.216420119C>T	VUS	1 lab	a47e40f3f4
20:33585254 MYH7B G>A	20	33585254	33585254	G	A	MYH7B	c.3684G>A	NM_020884.4	NP_065935.3:p.(Glu1228=)	NC_000020.10:g.33585254G>A	(Likely) benign	1 lab	a47ff4238e
22:38508211 PLA2G6 C>T	22	38508211	38508211	C	T	PLA2G6	c.2378G>A	NM_003560.2	NP_003551.2:p.(Arg793His)	NC_000022.10:g.38508211C>T	(Likely) benign	1 lab	a48034fccf
8:61654994 CHD7 AC>A	8	61654994	61654995	AC	A	CHD7	c.1004del	NM_017780.4	NP_060250.2:p.(Thr335LysfsTer6)	NC_000008.10:g.61654995del	(Likely) pathogenic	1 lab	a4807808dd
1:156084783 LMNA G>A	1	156084783	156084783	G	A	LMNA				NC_000001.10:g.156084783G>A	(Likely) pathogenic	1 lab	a48391bdf7
2:44541045 SLC3A1 C>T	2	44541045	44541045	C	T	SLC3A1	c.1572C>T	NM_000341.3	NP_000332.2:p.(Asn524=)	NC_000002.11:g.44541045C>T	(Likely) benign	1 lab	a484c312a1
4:126370483 FAT4 C>T	4	126370483	126370483	C	T	FAT4	c.8318C>T	NM_001291303.1	NP_001278232.1:p.(Pro2773Leu)	NC_000004.11:g.126370483C>T	VUS	1 lab	a48516538a
22:50987052 KLHDC7B G>A	22	50987052	50987052	G	A	KLHDC7B	c.2380G>A	NM_138433.4	NP_612442.3:p.(Asp794Asn)	NC_000022.10:g.50987052G>A	(Likely) benign	1 lab	a4855a765c
5:135389730 TGFBI C>T	5	135389730	135389730	C	T	TGFBI	c.1225C>T	NM_000358.2	NP_000349.1:p.(Arg409Trp)	NC_000005.9:g.135389730C>T	VUS	1 lab	a486d3cdda
1:151266513 PI4KB G>A	1	151266513	151266513	G	A	PI4KB	c.2205C>T	NM_001198773.2	NP_001185702.1:p.(Ile735=)	NC_000001.10:g.151266513G>A	(Likely) benign	1 lab	a486fb5062
5:140073790 HARS2 T>C	5	140073790	140073790	T	C	HARS2	c.324T>C	NM_012208.3	NP_036340.1:p.(Tyr108=)	NC_000005.9:g.140073790T>C	(Likely) benign	1 lab	a487426024
1:158626390 SPTA1 A>G	1	158626390	158626390	A	G	SPTA1	c.2862T>C	NM_003126.3	NP_003117.2:p.(Ser954=)	NC_000001.10:g.158626390A>G	(Likely) benign	1 lab	a487f8ae71
3:14201231 XPC C>T	3	14201231	14201231	C	T	XPC	c.990+10G>A	NM_004628.4	NP_004619.3:p.?	NC_000003.11:g.14201231C>T	(Likely) benign	1 lab	a489a09285
11:76823673 CAPN5 A>G	11	76823673	76823673	A	G	CAPN5	c.336A>G	NM_004055.4	NP_004046.2:p.(Glu112=)	NC_000011.9:g.76823673A>G	(Likely) benign	1 lab	a489be156e
10:73571123 CDH23 G>C	10	73571123	73571123	G	C	CDH23	c.9129G>C	NM_022124.5	NP_071407.4:p.(Arg3043=)	NC_000010.10:g.73571123G>C	(Likely) benign	1 lab	a48a26c656
17:2583514 PAFAH1B1 T>C	17	2583514	2583514	T	C	PAFAH1B1	c.1059T>C	NM_000430.3	NP_000421.1:p.(Ile353=)	NC_000017.10:g.2583514T>C	(Likely) benign	1 lab	a48b179fa0
10:104173689 PSD G>A	10	104173689	104173689	G	A	PSD	c.1390C>T	NM_002779.5	NP_002770.3:p.(Leu464Phe)	NC_000010.10:g.104173689G>A	(Likely) benign	1 lab	a48e654a35
7:1538175 INTS1 G>A	7	1538175	1538175	G	A	INTS1	c.1298C>T	NM_001080453.3	NP_001073922.2:p.(Ala433Val)	NC_000007.13:g.1538175G>A	VUS	1 lab	a48fe54416
9:94486163 ROR2 T>G	9	94486163	94486163	T	G	ROR2	c.2613A>C	NM_004560.3	NP_004551.2:p.(Thr871=)	NC_000009.11:g.94486163T>G	(Likely) benign	1 lab	a493905ba9
9:98268761 PTCH1 TGAG>T	9	98268761	98268768	TGAG	T	PTCH1	c.319_321del	NM_000264.5	NP_000255.2:p.(Leu107del)	NC_000009.11:g.98268766_98268768del	VUS	1 lab	a49478e939
X:11777948 MSL3 A>G	X	11777948	11777948	A	G	MSL3	c.139A>G	NM_078628.1	NP_523352.1:p.(Arg47Gly)	NC_000023.10:g.11777948A>G	VUS	1 lab	a4948f026a
17:19576533 ALDH3A2 A>G	17	19576533	19576533	A	G	ALDH3A2	c.1513A>G	NM_001031806.1	NP_001026976.1:p.(Ser505Gly)	NC_000017.10:g.19576533A>G	VUS	1 lab	a49677569b
18:10705405 PIEZO2 G>A	18	10705405	10705405	G	A	PIEZO2	c.5589C>T	NM_022068.3	NP_071351.2:p.(Thr1863=)	NC_000018.9:g.10705405G>A	(Likely) benign	1 lab	a497636a3e
X:153716733 SLC10A3 C>T	X	153716733	153716733	C	T	SLC10A3	c.547G>A	NM_019848.4	NP_062822.1:p.(Asp183Asn)	NC_000023.10:g.153716733C>T	(Likely) benign	1 lab	a49d69a16f
7:116380025 MET C>T	7	116380025	116380025	C	T	MET	c.1414C>T	NM_001127500.1	NP_001120972.1:p.(Pro472Ser)	NC_000007.13:g.116380025C>T	(Likely) benign	1 lab	a49e4b3ea2
X:99551849 PCDH19 C>T	X	99551849	99551849	C	T	PCDH19	c.2873G>A	NM_001184880.1	NP_001171809.1:p.(Arg958Gln)	NC_000023.10:g.99551849C>T	(Likely) benign	1 lab	a49e7f9927
19:13443723 CACNA1A G>A	19	13443723	13443723	G	A	CACNA1A	c.1215C>T	NM_023035.2	NP_075461.2:p.(Ala405=)	NC_000019.9:g.13443723G>A	(Likely) benign	1 lab	a49f67b4e5
10:123256248 FGFR2 G>A	10	123256248	123256248	G	A	FGFR2	c.1673-12C>T	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123256248G>A	(Likely) benign	1 lab	a49ff0c8dc
12:1940235 LRTM2 G>C	12	1940235	1940235	G	C	LRTM2	c.202G>C	NM_001163925.1	NP_001157397.1:p.(Ala68Pro)	NC_000012.11:g.1940235G>C	(Likely) benign	1 lab	a49ffb4717
5:90001299 ADGRV1 T>C	5	90001299	90001299	T	C	ADGRV1	c.8469T>C	NM_032119.4	NP_115495.3:p.(His2823=)	NC_000005.9:g.90001299T>C	(Likely) benign	1 lab	a4a010ea3b
7:45650085 ADCY1 C>T	7	45650085	45650085	C	T	ADCY1	c.897C>T	NM_021116.3	NP_066939.1:p.(His299=)	NC_000007.13:g.45650085C>T	(Likely) benign	1 lab	a4a04e644b
6:152738143 SYNE1 G>A	6	152738143	152738143	G	A	SYNE1	c.5429C>T	NM_182961.3	NP_892006.3:p.(Ala1810Val)	NC_000006.11:g.152738143G>A	(Likely) benign	1 lab	a4a0befda7
X:57935674 ZXDA G>A	X	57935674	57935674	G	A	ZXDA	c.1181C>T	NM_007156.4	NP_009087.1:p.(Ser394Phe)	NC_000023.10:g.57935674G>A	VUS	1 lab	a4a294e059
16:16248760 ABCC6 T>C	16	16248760	16248760	T	C	ABCC6	c.4011A>G	NM_001171.5	NP_001162.4:p.(Thr1337=)	NC_000016.9:g.16248760T>C	(Likely) benign	1 lab	a4a39ff58a
3:49160257 LAMB2 T>C	3	49160257	49160257	T	C	LAMB2	c.4453A>G	NM_002292.3	NP_002283.3:p.(Ser1485Gly)	NC_000003.11:g.49160257T>C	VUS	1 lab	a4a57c971e
13:114324086 GRK1 G>A	13	114324086	114324086	G	A	GRK1	c.784G>A	NM_002929.3	NP_002920.1:p.(Asp262Asn)	NC_000013.10:g.114324086G>A	VUS	1 lab	a4a65a5904
4:113352780 ALPK1 G>T	4	113352780	113352780	G	T	ALPK1	c.2077G>T	NM_025144.4	NP_079420.3:p.(Gly693Ter)	NC_000004.11:g.113352780G>T	VUS	1 lab	a4a749c02c
13:23908908 SACS T>C	13	23908908	23908908	T	C	SACS	c.9107A>G	NM_014363.5	NP_055178.3:p.(Gln3036Arg)	NC_000013.10:g.23908908T>C	VUS	1 lab	a4a80c22d2
17:78115587 EIF4A3 A>G	17	78115587	78115587	A	G	EIF4A3	c.303T>C	NM_014740.4	NP_055555.1:p.(Asp101=)	NC_000017.10:g.78115587A>G	(Likely) benign	1 lab	a4a8f69533
9:135778156 TSC1 G>A	9	135778156	135778156	G	A	TSC1	c.2227C>T	NM_000368.4	NP_000359.1:p.(Gln743Ter)	NC_000009.11:g.135778156G>A	(Likely) pathogenic	1 lab	a4a9b0776f
3:48629355 COL7A1 G>A	3	48629355	48629355	G	A	COL7A1	c.1333C>T	NM_000094.3	NP_000085.1:p.(Arg445Trp)	NC_000003.11:g.48629355G>A	VUS	1 lab	a4a9eef7cd
X:54960267 PFKFB1 C>T	X	54960267	54960267	C	T	PFKFB1	c.1343G>A	NM_002625.3	NP_002616.2:p.(Arg448Gln)	NC_000023.10:g.54960267C>T	VUS	1 lab	a4aa36a00d
X:6451839 VCX3A C>T	X	6451839	6451839	C	T	VCX3A	c.508G>A	NM_016379.3	NP_057463.2:p.(Val170Met)	NC_000023.10:g.6451839C>T	(Likely) benign	1 lab	a4aaeb88cf
6:109787772 ZBTB24 T>C	6	109787772	109787772	T	C	ZBTB24	c.1376A>G	NM_014797.2	NP_055612.2:p.(Glu459Gly)	NC_000006.11:g.109787772T>C	VUS	1 lab	a4acf76bbe
11:67759151 UNC93B1 C>T	11	67759151	67759151	C	T	UNC93B1	c.1660G>A	NM_030930.2	NP_112192.2:p.(Gly554Ser)	NC_000011.9:g.67759151C>T	(Likely) benign	1 lab	a4adf58100
17:67286164 ABCA5 A>G	17	67286164	67286164	A	G	ABCA5	c.1621T>C	NM_018672.4	NP_061142.2:p.(Tyr541His)	NC_000017.10:g.67286164A>G	VUS	1 lab	a4ae9b6dbe
15:23684986 GOLGA6L2 T>C	15	23684986	23684986	T	C	GOLGA6L2	c.2636A>G	NM_001304388.1	NP_001291317.1:p.(Asp879Gly)	NC_000015.9:g.23684986T>C	VUS	1 lab	a4aec166a3
X:153692595 PLXNA3 C>T	X	153692595	153692595	C	T	PLXNA3	c.1767C>T	NM_017514.4	NP_059984.3:p.(Ser589=)	NC_000023.10:g.153692595C>T	(Likely) benign	1 lab	a4af2a63a0
2:179665391 TTN T>G	2	179665391	179665391	T	G	TTN	c.314A>C	NM_001267550.1	NP_001254479.1:p.(Asn105Thr)	NC_000002.11:g.179665391T>G	VUS	1 lab	a4b0c1f307
2:241662083 KIF1A G>A	2	241662083	241662083	G	A	KIF1A	c.4465-10C>T	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241662083G>A	(Likely) benign	1 lab	a4b171daf4
16:18851255 SMG1 T>C	16	18851255	18851255	T	C	SMG1	c.6710A>G	NM_015092.4	NP_055907.3:p.(Tyr2237Cys)	NC_000016.9:g.18851255T>C	VUS	1 lab	a4b3ad8336
3:184045189 EIF4G1 G>A	3	184045189	184045189	G	A	EIF4G1	c.3617G>A	NM_182917.4	NP_886553.3:p.(Arg1206His)	NC_000003.11:g.184045189G>A	VUS	1 lab	a4b3df6b7c
11:118342516 KMT2A T>C	11	118342516	118342516	T	C	KMT2A	c.642T>C	NM_001197104.1	NP_001184033.1:p.(Asp214=)	NC_000011.9:g.118342516T>C	(Likely) benign	1 lab	a4b4298e39
1:6885275 CAMTA1 A>T	1	6885275	6885275	A	T	CAMTA1	c.234+5A>T	NM_015215.3	NP_056030.1:p.?	NC_000001.10:g.6885275A>T	(Likely) benign	1 lab	a4b63efe7e
12:7362670 PEX5 G>A	12	7362670	7362670	G	A	PEX5	c.1771G>A	NM_001131025.1	NP_001124497.1:p.(Gly591Ser)	NC_000012.11:g.7362670G>A	(Likely) benign	1 lab	a4b70be6fb
15:41341488 INO80 T>C	15	41341488	41341488	T	C	INO80	c.2573A>G	NM_017553.3	NP_060023.1:p.(Asp858Gly)	NC_000015.9:g.41341488T>C	(Likely) benign	1 lab	a4b7900f69
2:71839840 DYSF C>T	2	71839840	71839840	C	T	DYSF	c.4288C>T	NM_001130981.1	NP_001124453.1:p.(Arg1430Cys)	NC_000002.11:g.71839840C>T	VUS	1 lab	a4b7d6a090
2:86255766 POLR1A G>A	2	86255766	86255766	G	A	POLR1A	c.4848C>T	NM_015425.5	NP_056240.2:p.(Ala1616=)	NC_000002.11:g.86255766G>A	(Likely) benign	1 lab	a4b856094c
15:63928248 HERC1 C>T	15	63928248	63928248	C	T	HERC1	c.12326G>A	NM_003922.3	NP_003913.3:p.(Gly4109Asp)	NC_000015.9:g.63928248C>T	VUS	1 lab	a4b925003b
2:29296597 PCARE C>T	2	29296597	29296597	C	T	PCARE	c.531G>A	NM_001029883.2	NP_001025054.1:p.(Pro177=)	NC_000002.11:g.29296597C>T	(Likely) benign	1 lab	a4b979d31a
14:24569346 PCK2 G>A	14	24569346	24569346	G	A	PCK2	c.756G>A	NM_001308054.1	NP_001294983.1:p.(Val252=)	NC_000014.8:g.24569346G>A	(Likely) benign	1 lab	a4b9c64ad5
9:43625697 SPATA31A6 C>G	9	43625697	43625697	C	G	SPATA31A6	c.2990G>C	NM_001145196.1	NP_001138668.1:p.(Arg997Thr)	NC_000009.11:g.43625697C>G	(Likely) benign	1 lab	a4badf0c7a
X:115304522 AGTR2 G>C	X	115304522	115304522	G	C	AGTR2	c.989G>C	NM_000686.4	NP_000677.2:p.(Arg330Pro)	NC_000023.10:g.115304522G>C	VUS	1 lab	a4bb8cfa88
16:77353898 ADAMTS18 G>A	16	77353898	77353898	G	A	ADAMTS18	c.1864C>T	NM_001326358.1	NP_001313287.1:p.(Leu622Phe)	NC_000016.9:g.77353898G>A	VUS	1 lab	a4bd3c4c55
7:73458241 ELN G>A	7	73458241	73458241	G	A	ELN	c.460G>A	NM_000501.3	NP_000492.2:p.(Val154Met)	NC_000007.13:g.73458241G>A	VUS	1 lab	a4be05346b
9:117168971 WHRN C>T	9	117168971	117168971	C	T	WHRN	c.1900G>A	NM_015404.3	NP_056219.3:p.(Ala634Thr)	NC_000009.11:g.117168971C>T	(Likely) benign	1 lab	a4c04a2a1a
X:37431478 LANCL3 G>A	X	37431478	37431478	G	A	LANCL3	c.355G>A	NM_198511.2	NP_940913.1:p.(Ala119Thr)	NC_000023.10:g.37431478G>A	VUS	1 lab	a4c083991d
16:53679746 RPGRIP1L T>TG	16	53679746	53679748	T	TG	RPGRIP1L	c.2473dup	NM_015272.4	NP_056087.2:p.(His825ProfsTer2)	NC_000016.9:g.53679748dup	(Likely) pathogenic	1 lab	a4c31afd88
19:33892771 PEPD A>G	19	33892771	33892771	A	G	PEPD	c.823T>C	NM_000285.3	NP_000276.2:p.(Phe275Leu)	NC_000019.9:g.33892771A>G	(Likely) benign	1 lab	a4c32a6588
19:18979767 GDF1 C>T	19	18979767	18979767	C	T	GDF1	c.758G>A	NM_001492.5	NP_001483.3:p.(Arg253His)	NC_000019.9:g.18979767C>T	VUS	1 lab	a4c4b1be55
6:35477613 TULP1 T>A	6	35477613	35477613	T	A	TULP1	c.592A>T	NM_003322.5	NP_003313.3:p.(Lys198Ter)	NC_000006.11:g.35477613T>A	(Likely) pathogenic	1 lab	a4c6223638
22:38120176 TRIOBP C>T	22	38120176	38120176	C	T	TRIOBP	c.1613C>T	NM_001039141.2	NP_001034230.1:p.(Ala538Val)	NC_000022.10:g.38120176C>T	(Likely) benign	1 lab	a4c6adfab7
6:37605972 MDGA1 G>A	6	37605972	37605972	G	A	MDGA1	c.2776+9C>T	NM_153487.3	NP_705691.1:p.?	NC_000006.11:g.37605972G>A	(Likely) benign	1 lab	a4c81e28f8
2:130910155 SMPD4 G>A	2	130910155	130910155	G	A	SMPD4	c.2574C>T	NM_017951.4	NP_060421.2:p.(Thr858=)	NC_000002.11:g.130910155G>A	(Likely) benign	1 lab	a4c8d0aa22
9:35739655 GBA2 G>A	9	35739655	35739655	G	A	GBA2	c.1552C>T	NM_020944.2	NP_065995.1:p.(Arg518Trp)	NC_000009.11:g.35739655G>A	VUS	1 lab	a4cdfc9aa7
17:71415391 SDK2 G>T	17	71415391	71415391	G	T	SDK2	c.2100C>A	NM_001144952.2	NP_001138424.1:p.(Ser700Arg)	NC_000017.10:g.71415391G>T	VUS	1 lab	a4cebec3a8
12:49420194 KMT2D G>A	12	49420194	49420194	G	A	KMT2D	c.15555C>T	NM_003482.3	NP_003473.3:p.(Phe5185=)	NC_000012.11:g.49420194G>A	(Likely) benign	1 lab	a4d0f59eaf
3:48621766 COL7A1 G>A	3	48621766	48621766	G	A	COL7A1	c.4162C>T	NM_000094.3	NP_000085.1:p.(Arg1388Cys)	NC_000003.11:g.48621766G>A	VUS	1 lab	a4d16ea989
13:52511409 ATP7B T>C	13	52511409	52511409	T	C	ATP7B	c.4021+3A>G	NM_000053.3	NP_000044.2:p.?	NC_000013.10:g.52511409T>C	VUS	1 lab	a4d1bf9336
19:15291616 NOTCH3 G>A	19	15291616	15291616	G	A	NOTCH3	c.3018C>T	NM_000435.2	NP_000426.2:p.(Arg1006=)	NC_000019.9:g.15291616G>A	(Likely) benign	1 lab	a4d297d5c2
16:89258156 CDH15 G>A	16	89258156	89258156	G	A	CDH15	c.1469G>A	NM_004933.2	NP_004924.1:p.(Ser490Asn)	NC_000016.9:g.89258156G>A	(Likely) benign	1 lab	a4d3ce9caa
7:156798354 MNX1 G>A	7	156798354	156798354	G	A	MNX1	c.1066C>T	NM_005515.3	NP_005506.3:p.(Pro356Ser)	NC_000007.13:g.156798354G>A	VUS	1 lab	a4d6bdb455
2:209150644 PIKFYVE T>C	2	209150644	209150644	T	C	PIKFYVE	c.808T>C	NM_015040.3	NP_055855.2:p.(Leu270=)	NC_000002.11:g.209150644T>C	(Likely) benign	1 lab	a4d7f7edf0
19:17397499 ANKLE1 GTT>G	19	17397499	17397502	GTT	G	ANKLE1	c.*140_*141del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501_17397502del	(Likely) benign	1 lab	a4d8ab94fd
16:2130366 TSC2 CG>C	16	2130366	2130368	CG	C	TSC2	c.3600del	NM_000548.5	NP_000539.2:p.(Arg1201GlyfsTer9)	NC_000016.9:g.2130368del	(Likely) pathogenic	1 lab	a4dd9974c6
1:120468411 NOTCH2 T>C	1	120468411	120468411	T	C	NOTCH2	c.4028A>G	NM_024408.3	NP_077719.2:p.(Gln1343Arg)	NC_000001.10:g.120468411T>C	(Likely) benign	1 lab	a4deaf0b33
7:151478379 PRKAG2 A>C	7	151478379	151478379	A	C	PRKAG2	c.325T>G	NM_016203.3	NP_057287.2:p.(Ser109Ala)	NC_000007.13:g.151478379A>C	(Likely) benign	1 lab	a4e2643120
13:39263954 FREM2 G>A	13	39263954	39263954	G	A	FREM2	c.2473G>A	NM_207361.5	NP_997244.4:p.(Val825Met)	NC_000013.10:g.39263954G>A	VUS	1 lab	a4e31f6e36
9:70914492 ZNG1C G>C	9	70914492	70914492	G	C	ZNG1C	c.1177G>C	NM_201453.3	NP_958861.2:p.(Val393Leu)	NC_000009.11:g.70914492G>C	(Likely) benign	1 lab	a4e4c07bea
X:48933310 WDR45 C>CTA	X	48933310	48933312	C	CTA	WDR45	c.620_621dup	NM_007075.3	NP_009006.2:p.(Val208Ter)	NC_000023.10:g.48933311_48933312dup	(Likely) pathogenic	1 lab	a4e4f6ee5b
13:113864042 CUL4A C>T	13	113864042	113864042	C	T	CUL4A	c.101C>T	NM_001008895.4	NP_001008895.1:p.(Pro34Leu)	NC_000013.10:g.113864042C>T	(Likely) benign	1 lab	a4e5121f05
17:29490318 NF1 CG>C	17	29490318	29490320	CG	C	NF1	c.405del	NM_001042492.3	NP_001035957.1:p.(Asn136IlefsTer29)	NC_000017.10:g.29490320del	(Likely) pathogenic	1 lab	a4e55f33ec
12:14577275 ATF7IP A>C	12	14577275	14577275	A	C	ATF7IP	c.450A>C	NM_181352.1	NP_851997.1:p.(Gly150=)	NC_000012.11:g.14577275A>C	(Likely) benign	1 lab	a4e64845c9
17:40945659 WNK4 G>A	17	40945659	40945659	G	A	WNK4	c.2207G>A	NM_032387.4	NP_115763.2:p.(Arg736Gln)	NC_000017.10:g.40945659G>A	VUS	1 lab	a4e68ff8ce
19:39016094 RYR1 G>A	19	39016094	39016094	G	A	RYR1	c.10578G>A	NM_000540.2	NP_000531.2:p.(Ala3526=)	NC_000019.9:g.39016094G>A	(Likely) benign	1 lab	a4e7205225
2:241725781 KIF1A C>T	2	241725781	241725781	C	T	KIF1A	c.579G>A	NM_001244008.1	NP_001230937.1:p.(Gln193=)	NC_000002.11:g.241725781C>T	(Likely) benign	1 lab	a4e9dcc124
7:143094423 EPHA1 C>T	7	143094423	143094423	C	T	EPHA1	c.1745G>A	NM_005232.5	NP_005223.4:p.(Arg582His)	NC_000007.13:g.143094423C>T	(Likely) benign	1 lab	a4ec2d80ad
21:47850155 PCNT G>C	21	47850155	47850155	G	C	PCNT	c.7913+9G>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47850155G>C	(Likely) benign	1 lab	a51f910326
1:240370652 FMN2 C>T	1	240370652	240370652	C	T	FMN2	c.2552C>T	NM_001305424.1	NP_001292353.1:p.(Ser851Phe)	NC_000001.10:g.240370652C>T	VUS	1 lab	a4eca550ab
6:170871013 TBP ACAG>A	6	170871013	170871039	ACAG	A	TBP	c.213_215del	NM_003194.5	NP_003185.1:p.(Gln95del)	NC_000006.11:g.170871037_170871039del	(Likely) benign	1 lab	a4ee64edcd
17:29528059 NF1 TG>T	17	29528059	29528060	TG	T	NF1	c.1068del	NM_001042492.3	NP_001035957.1:p.(Leu357PhefsTer19)	NC_000017.10:g.29528060del	(Likely) pathogenic	1 lab	a4ee7612a6
1:114447271 AP4B1 T>C	1	114447271	114447271	T	C	AP4B1	c.69A>G	NM_006594.4	NP_006585.2:p.(Gln23=)	NC_000001.10:g.114447271T>C	(Likely) benign	1 lab	a4f03811b4
8:10468979 RP1L1 G>A	8	10468979	10468979	G	A	RP1L1	c.2629C>T	NM_178857.5	NP_849188.4:p.(His877Tyr)	NC_000008.10:g.10468979G>A	(Likely) benign	1 lab	a4f054ee57
2:84904252 DNAH6 A>G	2	84904252	84904252	A	G	DNAH6	c.6736A>G	NM_001370.1	NP_001361.1:p.(Ile2246Val)	NC_000002.11:g.84904252A>G	VUS	1 lab	a4f2e0180f
11:124757660 ROBO4 A>G	11	124757660	124757660	A	G	ROBO4	c.2025T>C	NM_019055.5	NP_061928.4:p.(Asn675=)	NC_000011.9:g.124757660A>G	(Likely) benign	1 lab	a4f39e7649
7:21778438 DNAH11 G>C	7	21778438	21778438	G	C	DNAH11				NC_000007.13:g.21778438G>C	VUS	1 lab	a760735a10
2:26688697 OTOF C>T	2	26688697	26688697	C	T	OTOF	c.4642G>A	NM_194248.2	NP_919224.1:p.(Glu1548Lys)	NC_000002.11:g.26688697C>T	VUS	1 lab	a4f60b9b40
3:184042681 EIF4G1 C>T	3	184042681	184042681	C	T	EIF4G1	c.2638C>T	NM_182917.4	NP_886553.3:p.(Arg880Cys)	NC_000003.11:g.184042681C>T	VUS	1 lab	a4f645e16d
X:18622075 CDKL5 A>G	X	18622075	18622075	A	G	CDKL5	c.1031A>G	NM_003159.2	NP_003150.1:p.(Lys344Arg)	NC_000023.10:g.18622075A>G	VUS	1 lab	a4f695931a
1:167409920 CD247 G>A	1	167409920	167409920	G	A	CD247	c.143C>T	NM_198053.2	NP_932170.1:p.(Ala48Val)	NC_000001.10:g.167409920G>A	VUS	1 lab	a4f6b0fd5b
18:6999503 LAMA1 G>A	18	6999503	6999503	G	A	LAMA1	c.4604C>T	NM_005559.3	NP_005550.2:p.(Ser1535Leu)	NC_000018.9:g.6999503G>A	VUS	1 lab	a4f7050dc5
6:72596772 RIMS1 C>T	6	72596772	72596772	C	T	RIMS1	c.46C>T	NM_014989.5	NP_055804.2:p.(Pro16Ser)	NC_000006.11:g.72596772C>T	VUS	1 lab	a4f785ad77
6:3850669 FAM50B G>C	6	3850669	3850669	G	C	FAM50B	c.624G>C	NM_012135.2	NP_036267.1:p.(Thr208=)	NC_000006.11:g.3850669G>C	(Likely) benign	1 lab	a4f97ff207
4:178359978 AGA T>C	4	178359978	178359978	T	C	AGA	c.428A>G	NM_000027.3	NP_000018.2:p.(Asn143Ser)	NC_000004.11:g.178359978T>C	(Likely) benign	1 lab	a4fbf615b3
X:110654111 DCX G>A	X	110654111	110654111	G	A	DCX	c.92C>T	NM_000555.3	NP_000546.2:p.(Ser31Phe)	NC_000023.10:g.110654111G>A	(Likely) benign	1 lab	a50146390e
19:6368554 CLPP G>A	19	6368554	6368554	G	A	CLPP	c.667G>A	NM_006012.2	NP_006003.1:p.(Ala223Thr)	NC_000019.9:g.6368554G>A	VUS	1 lab	a503a98e0e
11:22647349 FANCF G>A	11	22647349	22647349	G	A	FANCF	c.8C>T	NM_022725.3	NP_073562.1:p.(Ser3Phe)	NC_000011.9:g.22647349G>A	VUS	1 lab	a504112a00
1:11850767 MTHFR G>T	1	11850767	11850767	G	T	MTHFR	c.1941C>A	NM_005957.4	NP_005948.3:p.(Thr647=)	NC_000001.10:g.11850767G>T	(Likely) benign	1 lab	a504760de3
4:55140770 PDGFRA T>C	4	55140770	55140770	T	C	PDGFRA	c.1631T>C	NM_006206.4	NP_006197.1:p.(Val544Ala)	NC_000004.11:g.55140770T>C	(Likely) benign	1 lab	a5053de3fc
2:26700694 OTOF A>C	2	26700694	26700694	A	C	OTOF	c.68T>G	NM_194322.2	NP_919303.1:p.(Ile23Ser)	NC_000002.11:g.26700694A>C	(Likely) benign	1 lab	a50594a284
X:54264905 WNK3 A>G	X	54264905	54264905	A	G	WNK3	c.3884T>C	NM_020922.4	NP_065973.2:p.(Val1295Ala)	NC_000023.10:g.54264905A>G	(Likely) benign	1 lab	a505ee40a8
1:211846940 NEK2 A>G	1	211846940	211846940	A	G	NEK2	c.440T>C	NM_002497.4	NP_002488.1:p.(Val147Ala)	NC_000001.10:g.211846940A>G	VUS	1 lab	a505f708bd
6:42141415 GUCA1A T>C	6	42141415	42141415	T	C	GUCA1A	c.64T>C	NM_001319061.1	NP_001305990.1:p.(Tyr22His)	NC_000006.11:g.42141415T>C	VUS	1 lab	a50681d413
X:56291859 KLF8 C>A	X	56291859	56291859	C	A	KLF8	c.328C>A	NM_007250.5	NP_009181.2:p.(Pro110Thr)	NC_000023.10:g.56291859C>A	(Likely) benign	1 lab	a507e5b459
14:105420056 AHNAK2 C>T	14	105420056	105420056	C	T	AHNAK2	c.1732G>A	NM_138420.3	NP_612429.2:p.(Gly578Arg)	NC_000014.8:g.105420056C>T	(Likely) benign	1 lab	a5080ba6c3
8:99140662 POP1 C>T	8	99140662	99140662	C	T	POP1	c.380C>T	NM_001145860.1	NP_001139332.1:p.(Ser127Leu)	NC_000008.10:g.99140662C>T	VUS	1 lab	a508642780
3:48624478 COL7A1 C>T	3	48624478	48624478	C	T	COL7A1	c.3203G>A	NM_000094.3	NP_000085.1:p.(Arg1068His)	NC_000003.11:g.48624478C>T	(Likely) benign	1 lab	a508d42864
17:44060605 MAPT G>C	17	44060605	44060605	G	C	MAPT	c.435G>C	NM_001123066.3	NP_001116538.2:p.(Leu145=)	NC_000017.10:g.44060605G>C	(Likely) benign	1 lab	a50c071e9c
6:37614063 MDGA1 C>T	6	37614063	37614063	C	T	MDGA1	c.2135G>A	NM_153487.3	NP_705691.1:p.(Arg712His)	NC_000006.11:g.37614063C>T	VUS	1 lab	a50c403206
12:49997056 FAM186B C>T	12	49997056	49997056	C	T	FAM186B	c.417G>A	NM_032130.2	NP_115506.1:p.(Pro139=)	NC_000012.11:g.49997056C>T	(Likely) benign	1 lab	a510567756
14:75052568 LTBP2 C>T	14	75052568	75052568	C	T	LTBP2	c.819G>A	NM_000428.2	NP_000419.1:p.(Ser273=)	NC_000014.8:g.75052568C>T	(Likely) benign	1 lab	a5135928cf
12:5020937 KCNA1 G>A	12	5020937	5020937	G	A	KCNA1	c.393G>A	NM_000217.3	NP_000208.2:p.(Arg131=)	NC_000012.11:g.5020937G>A	(Likely) benign	1 lab	a5142aa187
16:2034242 GFER G>C	16	2034242	2034242	G	C	GFER	c.23G>C	NM_005262.2	NP_005253.3:p.(Gly8Ala)	NC_000016.9:g.2034242G>C	(Likely) benign	1 lab	a5149cdbaf
11:44129687 EXT2 A>T	11	44129687	44129687	A	T	EXT2	c.425A>T	NM_001178083.1	NP_001171554.1:p.(Tyr142Phe)	NC_000011.9:g.44129687A>T	VUS	1 lab	a5149e12a1
9:136504982 DBH C>T	9	136504982	136504982	C	T	DBH	c.354C>T	NM_000787.3	NP_000778.3:p.(Asp118=)	NC_000009.11:g.136504982C>T	(Likely) benign	1 lab	a51516e4dd
10:73206159 CDH23 G>A	10	73206159	73206159	G	A	CDH23	c.145+7G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73206159G>A	(Likely) benign	1 lab	a5154a4900
13:23911182 SACS A>G	13	23911182	23911182	A	G	SACS	c.6833T>C	NM_014363.5	NP_055178.3:p.(Val2278Ala)	NC_000013.10:g.23911182A>G	VUS	1 lab	a515841f01
9:133884808 LAMC3 C>T	9	133884808	133884808	C	T	LAMC3	c.207C>T	NM_006059.3	NP_006050.3:p.(Gly69=)	NC_000009.11:g.133884808C>T	(Likely) benign	1 lab	a5163f32f4
6:30860297 DDR1 C>A	6	30860297	30860297	C	A	DDR1	c.1077C>A	NM_001297652.1	NP_001284581.1:p.(Phe359Leu)	NC_000006.11:g.30860297C>A	VUS	1 lab	a517f54e47
12:42538415 GXYLT1 C>G	12	42538415	42538415	C	G	GXYLT1	c.34G>C	NM_173601.2	NP_775872.1:p.(Val12Leu)	NC_000012.11:g.42538415C>G	VUS	1 lab	a518072264
17:29422374 NF1 G>C	17	29422374	29422374	G	C	NF1	c.47G>C	NM_000267.3	NP_000258.1:p.(Arg16Pro)	NC_000017.10:g.29422374G>C	(Likely) pathogenic	1 lab	a51922fad8
12:40758676 LRRK2 A>G	12	40758676	40758676	A	G	LRRK2	c.7214A>G	NM_198578.3	NP_940980.3:p.(Lys2405Arg)	NC_000012.11:g.40758676A>G	(Likely) benign	1 lab	a519b8accf
6:170179386 ERMARD C>T	6	170179386	170179386	C	T	ERMARD	c.1848C>T	NM_018341.2	NP_060811.1:p.(Tyr616=)	NC_000006.11:g.170179386C>T	(Likely) benign	1 lab	a51bd2682d
1:33480161 AK2 C>T	1	33480161	33480161	C	T	AK2	c.316G>A	NM_001319139.1	NP_001306068.1:p.(Glu106Lys)	NC_000001.10:g.33480161C>T	VUS	1 lab	a51c878a14
2:233349198 ECEL1 G>T	2	233349198	233349198	G	T	ECEL1	c.1168C>A	NM_004826.3	NP_004817.2:p.(Arg390Ser)	NC_000002.11:g.233349198G>T	VUS	1 lab	a51cd346f6
19:54314118 NLRP12 T>TTGCATGC	19	54314118	54314130	T	TTGCATGC	NLRP12	c.788_794dup	NM_001277126.1	NP_001264055.1:p.(Asp266HisfsTer11)	NC_000019.9:g.54314124_54314130dup	(Likely) pathogenic	1 lab	a51ceb005c
8:145000982 PLEC G>A	8	145000982	145000982	G	A	PLEC	c.4425C>T	NM_201380.3	NP_958782.1:p.(Ser1475=)	NC_000008.10:g.145000982G>A	(Likely) benign	1 lab	a51fd4a6f6
3:33138500 GLB1 T>TA	3	33138500	33138501	T	TA	GLB1	c.75+2dup	NM_001317040.1	NP_001303969.1:p.?	NC_000003.11:g.33138501dup	(Likely) pathogenic	1 lab	a52037f51e
6:32008555 CYP21A2 G>A	6	32008555	32008555	G	A	CYP21A2	c.1222+7G>A	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32008555G>A	(Likely) benign	1 lab	a520a6bfee
20:3210347 SLC4A11 G>A	20	3210347	3210347	G	A	SLC4A11	c.1694C>T	NM_001174090.1	NP_001167561.1:p.(Ser565Leu)	NC_000020.10:g.3210347G>A	(Likely) benign	1 lab	a52192337d
16:2110812 TSC2 C>T	16	2110812	2110812	C	T	TSC2	c.1117C>T	NM_000548.3	NP_000539.2:p.(Gln373Ter)	NC_000016.9:g.2110812C>T	(Likely) pathogenic	1 lab	a523297ece
3:101576029 NFKBIZ T>TACTTTTAGAAAGCTTTAATAACC	3	101576029	101576032	T	TACTTTTAGAAAGCTTTAATAACC	NFKBIZ	c.1935+4_1935+5insTTTTAGAAAGCTTTAATAACCAC	NM_031419.4	NP_113607.1:p.?	NC_000003.11:g.101576031_101576032insTTTTAGAAAGCTTTAATAACCAC	(Likely) benign	1 lab	a525634a08
16:2115576 TSC2 A>G	16	2115576	2115576	A	G	TSC2	c.1656A>G	NM_000548.3	NP_000539.2:p.(Ala552=)	NC_000016.9:g.2115576A>G	(Likely) benign	1 lab	a526c466b0
3:38671944 SCN5A GC>AT	3	38671944	38671945	GC	AT	SCN5A	c.274-25_274-24delinsAT	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38671944_38671945delinsAT	(Likely) benign	1 lab	a5276a41f1
16:3556354 CLUAP1 C>T	16	3556354	3556354	C	T	CLUAP1	c.158C>T	NM_015041.2	NP_055856.1:p.(Pro53Leu)	NC_000016.9:g.3556354C>T	VUS	1 lab	a5284a47c1
21:46888673 COL18A1 G>A	21	46888673	46888673	G	A	COL18A1	c.624G>A	NM_130445.2	NP_569712.2:p.(Ala208=)	NC_000021.8:g.46888673G>A	(Likely) benign	1 lab	a528a1ad58
7:44268525 CAMK2B T>A	7	44268525	44268525	T	A	CAMK2B	c.1340-2A>T	NM_001220.4	NP_001211.3:p.?	NC_000007.13:g.44268525T>A	VUS	1 lab	a528add14f
13:50115084 RCBTB1 G>A	13	50115084	50115084	G	A	RCBTB1	c.804C>T	NM_001352506.1	NP_001339435.1:p.(His268=)	NC_000013.10:g.50115084G>A	(Likely) benign	1 lab	a528ba7180
7:99799574 STAG3 G>A	7	99799574	99799574	G	A	STAG3	c.2304G>A	NM_001282717.1	NP_001269646.1:p.(Lys768=)	NC_000007.13:g.99799574G>A	(Likely) benign	1 lab	a5293b0e1a
8:10470795 RP1L1 C>T	8	10470795	10470795	C	T	RP1L1	c.813G>A	NM_178857.5	NP_849188.4:p.(Thr271=)	NC_000008.10:g.10470795C>T	(Likely) benign	1 lab	a52aac9386
1:1168483 B3GALT6 C>T	1	1168483	1168483	C	T	B3GALT6	c.825C>T	NM_080605.4	NP_542172.2:p.(Tyr275=)	NC_000001.10:g.1168483C>T	(Likely) benign	1 lab	a52b5d96b3
9:139903412 ABCA2 G>C	9	139903412	139903412	G	C	ABCA2	c.6921C>G	NM_001606.5	NP_001597.2:p.(Ala2307=)	NC_000009.11:g.139903412G>C	(Likely) benign	1 lab	a52d4b918e
2:136561706 LCT G>A	2	136561706	136561706	G	A	LCT	c.4465-8C>T	NM_002299.2	NP_002290.2:p.?	NC_000002.11:g.136561706G>A	(Likely) benign	1 lab	a53071ce36
20:34061202 CEP250 C>T	20	34061202	34061202	C	T	CEP250	c.1213C>T	NM_007186.5	NP_009117.2:p.(Leu405=)	NC_000020.10:g.34061202C>T	(Likely) benign	1 lab	a531156f43
2:8938391 KIDINS220 T>C	2	8938391	8938391	T	C	KIDINS220	c.940A>G	NM_020738.3	NP_065789.1:p.(Asn314Asp)	NC_000002.11:g.8938391T>C	VUS	1 lab	a532c23ae1
16:71061529 HYDIN G>A	16	71061529	71061529	G	A	HYDIN	c.3018C>T	NM_001270974.2	NP_001257903.1:p.(Leu1006=)	NC_000016.9:g.71061529G>A	(Likely) benign	1 lab	a533ee3bf5
10:88492753 LDB3 C>T	10	88492753	88492753	C	T	LDB3	c.*20C>T	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88492753C>T	(Likely) benign	1 lab	a53549885c
X:56590700 UBQLN2 A>G	X	56590700	56590700	A	G	UBQLN2	c.394A>G	NM_013444.3	NP_038472.2:p.(Asn132Asp)	NC_000023.10:g.56590700A>G	(Likely) benign	1 lab	a536b368ce
11:4112814 STIM1 G>A	11	4112814	4112814	G	A	STIM1	c.2162G>A	NM_001277961.1	NP_001264890.1:p.(Arg721His)	NC_000011.9:g.4112814G>A	(Likely) benign	1 lab	a53705d50a
X:15339753 PIGA A>C	X	15339753	15339753	A	C	PIGA	c.1330T>G	NM_002641.3	NP_002632.1:p.(Trp444Gly)	NC_000023.10:g.15339753A>C	VUS	1 lab	a53768fe13
5:178408704 GRM6 G>A	5	178408704	178408704	G	A	GRM6	c.2588C>T	NM_000843.4	NP_000834.2:p.(Thr863Met)	NC_000005.9:g.178408704G>A	VUS	1 lab	a537c17e08
20:31016204 ASXL1 C>T	20	31016204	31016204	C	T	ASXL1	c.450C>T	NM_015338.5	NP_056153.2:p.(Asp150=)	NC_000020.10:g.31016204C>T	(Likely) benign	1 lab	a538c2f376
4:110791234 LRIT3 G>A	4	110791234	110791234	G	A	LRIT3	c.1329G>A	NM_198506.4	NP_940908.3:p.(Gln443=)	NC_000004.11:g.110791234G>A	(Likely) benign	1 lab	a538d366b7
1:220364416 RAB3GAP2 T>C	1	220364416	220364416	T	C	RAB3GAP2	c.1481A>G	NM_012414.3	NP_036546.2:p.(His494Arg)	NC_000001.10:g.220364416T>C	(Likely) benign	1 lab	a5390f7e5e
16:49671793 ZNF423 C>T	16	49671793	49671793	C	T	ZNF423	c.1090G>A	NM_001271620.2	NP_001258549.1:p.(Val364Met)	NC_000016.9:g.49671793C>T	VUS	1 lab	a5396f8e93
X:50376845 SHROOM4 T>G	X	50376845	50376845	T	G	SHROOM4	c.2228A>C	NM_020717.3	NP_065768.2:p.(Glu743Ala)	NC_000023.10:g.50376845T>G	(Likely) benign	1 lab	a53a2332e5
21:42830520 MX1 C>T	21	42830520	42830520	C	T	MX1	c.1339C>T	NM_001282920.1	NP_001269849.1:p.(Arg447Trp)	NC_000021.8:g.42830520C>T	VUS	1 lab	a53a553c7f
17:74060145 SRP68 C>T	17	74060145	74060145	C	T	SRP68	c.473G>A	NM_014230.4	NP_055045.2:p.(Arg158His)	NC_000017.10:g.74060145C>T	VUS	1 lab	a53a6012be
5:41199904 C6 C>A	5	41199904	41199904	C	A	C6	c.411G>T	NM_001115131.2	NP_001108603.2:p.(Glu137Asp)	NC_000005.9:g.41199904C>A	(Likely) benign	1 lab	a53a93e87f
6:56480602 DST A>G	6	56480602	56480602	A	G	DST	c.7663T>C	NM_001723.5	NP_001714.1:p.(Cys2555Arg)	NC_000006.11:g.56480602A>G	VUS	1 lab	a53cc5cd88
X:19014230 ADGRG2 A>G	X	19014230	19014230	A	G	ADGRG2	c.2655T>C	NM_001079858.2	NP_001073327.1:p.(Asn885=)	NC_000023.10:g.19014230A>G	(Likely) benign	1 lab	a53cf97d34
16:84209793 DNAAF1 C>T	16	84209793	84209793	C	T	DNAAF1	c.1953C>T	NM_178452.5	NP_848547.4:p.(Ser651=)	NC_000016.9:g.84209793C>T	(Likely) benign	1 lab	a541006bd3
17:56276909 EPX T>A	17	56276909	56276909	T	A	EPX	c.1291T>A	NM_000502.5	NP_000493.1:p.(Tyr431Asn)	NC_000017.10:g.56276909T>A	VUS	1 lab	a54182718a
X:71802382 PHKA1 C>G	X	71802382	71802382	C	G	PHKA1	c.3364G>C	NM_002637.3	NP_002628.2:p.(Glu1122Gln)	NC_000023.10:g.71802382C>G	VUS	1 lab	a54284fd03
16:71012867 HYDIN C>A	16	71012867	71012867	C	A	HYDIN	c.4588G>T	NM_001270974.2	NP_001257903.1:p.(Asp1530Tyr)	NC_000016.9:g.71012867C>A	(Likely) benign	1 lab	a543b3b4ec
14:105415386 AHNAK2 A>C	14	105415386	105415386	A	C	AHNAK2	c.6402T>G	NM_138420.3	NP_612429.2:p.(His2134Gln)	NC_000014.8:g.105415386A>C	(Likely) benign	1 lab	a543e0e2c2
10:64966941 JMJD1C A>G	10	64966941	64966941	A	G	JMJD1C	c.4488T>C	NM_032776.2	NP_116165.1:p.(Ser1496=)	NC_000010.10:g.64966941A>G	(Likely) benign	1 lab	a544361b15
15:41689047 NDUFAF1 T>C	15	41689047	41689047	T	C	NDUFAF1	c.211A>G	NM_016013.3	NP_057097.2:p.(Ile71Val)	NC_000015.9:g.41689047T>C	VUS	1 lab	a545b5596f
5:37154018 CPLANE1 G>A	5	37154018	37154018	G	A	CPLANE1	c.8035C>T	NM_023073.3	NP_075561.3:p.(Arg2679Trp)	NC_000005.9:g.37154018G>A	VUS	1 lab	a546f1b913
19:48183672 BICRA C>T	19	48183672	48183672	C	T	BICRA	c.1245C>T	NM_015711.3	NP_056526.3:p.(Pro415=)	NC_000019.9:g.48183672C>T	(Likely) benign	1 lab	a5471d7287
X:128678991 OCRL A>G	X	128678991	128678991	A	G	OCRL	c.179A>G	NM_001318784.1	NP_001305713.1:p.(Asn60Ser)	NC_000023.10:g.128678991A>G	VUS	1 lab	a547f0709f
15:28474669 HERC2 G>A	15	28474669	28474669	G	A	HERC2	c.5057C>T	NM_004667.5	NP_004658.3:p.(Pro1686Leu)	NC_000015.9:g.28474669G>A	VUS	1 lab	a54848084b
15:75581795 GOLGA6D C>T	15	75581795	75581795	C	T	GOLGA6D	c.622C>T	NM_001145224.1	NP_001138696.1:p.(Arg208Trp)	NC_000015.9:g.75581795C>T	VUS	1 lab	a5485e7c38
3:48508199 TREX1 A>C	3	48508199	48508199	A	C	TREX1	c.115A>C	NM_007248.4	NP_009179.2:p.(Thr39Pro)	NC_000003.11:g.48508199A>C	(Likely) benign	1 lab	a549282b55
17:73727976 ITGB4 C>G	17	73727976	73727976	C	G	ITGB4	c.1299C>G	NM_000213.4	NP_000204.3:p.(Asn433Lys)	NC_000017.10:g.73727976C>G	(Likely) benign	1 lab	a54b842559
4:39271673 WDR19 G>A	4	39271673	39271673	G	A	WDR19	c.3436G>A	NM_025132.3	NP_079408.3:p.(Glu1146Lys)	NC_000004.11:g.39271673G>A	VUS	1 lab	a54c5836e0
5:131945093 RAD50 G>A	5	131945093	131945093	G	A	RAD50	c.3036+5G>A	NM_005732.3	NP_005723.2:p.?	NC_000005.9:g.131945093G>A	(Likely) benign	1 lab	a54d8ee971
9:139333441 INPP5E C>T	9	139333441	139333441	C	T	INPP5E	c.431G>A	NM_019892.5	NP_063945.2:p.(Arg144His)	NC_000009.11:g.139333441C>T	VUS	1 lab	a54f8d1152
17:53471774 MMD G>A	17	53471774	53471774	G	A	MMD	c.638C>T	NM_012329.3	NP_036461.2:p.(Ala213Val)	NC_000017.10:g.53471774G>A	VUS	1 lab	a54fb63a52
17:79478626 ACTG1 C>T	17	79478626	79478626	C	T	ACTG1	c.390G>A	NM_001199954.2	NP_001186883.1:p.(Pro130=)	NC_000017.10:g.79478626C>T	(Likely) benign	1 lab	a552288643
10:13154530 OPTN G>A	10	13154530	13154530	G	A	OPTN	c.447G>A	NM_001008211.1	NP_001008212.1:p.(Arg149=)	NC_000010.10:g.13154530G>A	(Likely) benign	1 lab	a5529fde75
19:44681772 ZNF226 A>G	19	44681772	44681772	A	G	ZNF226	c.2357A>G	NM_016444.2	NP_057528.2:p.(Asn786Ser)	NC_000019.9:g.44681772A>G	(Likely) benign	1 lab	a552e86215
X:64947764 MSN A>G	X	64947764	64947764	A	G	MSN	c.185A>G	NM_002444.2	NP_002435.1:p.(Asn62Ser)	NC_000023.10:g.64947764A>G	(Likely) benign	1 lab	a5531061dd
9:137653812 COL5A1 C>T	9	137653812	137653812	C	T	COL5A1	c.1977C>T	NM_000093.4	NP_000084.3:p.(Asp659=)	NC_000009.11:g.137653812C>T	(Likely) benign	1 lab	a5534a2334
16:57931819 CNGB1 C>T	16	57931819	57931819	C	T	CNGB1	c.2977-1G>A	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57931819C>T	(Likely) pathogenic	1 lab	a555b26b5f
3:47038009 NBEAL2 G>T	3	47038009	47038009	G	T	NBEAL2	c.2400G>T	NM_015175.2	NP_055990.1:p.(Glu800Asp)	NC_000003.11:g.47038009G>T	(Likely) benign	1 lab	a557420e4e
X:153691998 PLXNA3 G>C	X	153691998	153691998	G	C	PLXNA3	c.1512G>C	NM_017514.4	NP_059984.3:p.(Gly504=)	NC_000023.10:g.153691998G>C	(Likely) benign	1 lab	a557f796b1
18:56202982 ALPK2 A>T	18	56202982	56202982	A	T	ALPK2	c.4437T>A	NM_052947.4	NP_443179.3:p.(Ala1479=)	NC_000018.9:g.56202982A>T	(Likely) benign	1 lab	a558365792
22:50297591 ALG12 G>A	22	50297591	50297591	G	A	ALG12	c.1362C>T	NM_024105.3	NP_077010.1:p.(Val454=)	NC_000022.10:g.50297591G>A	(Likely) benign	1 lab	a5594b480e
19:16870197 NWD1 G>A	19	16870197	16870197	G	A	NWD1	c.1526G>A	NM_001290355.2	NP_001277284.1:p.(Arg509Gln)	NC_000019.9:g.16870197G>A	(Likely) benign	1 lab	a55a9600b8
3:43591326 ANO10 C>G	3	43591326	43591326	C	G	ANO10	c.1683G>C	NM_018075.4	NP_060545.3:p.(Thr561=)	NC_000003.11:g.43591326C>G	(Likely) benign	1 lab	a55ae673b0
2:242573271 THAP4 G>A	2	242573271	242573271	G	A	THAP4	c.301C>T	NM_015963.6	NP_057047.4:p.(Arg101Trp)	NC_000002.11:g.242573271G>A	VUS	1 lab	a55b83f0e4
14:74978060 LTBP2 G>A	14	74978060	74978060	G	A	LTBP2	c.2916C>T	NM_000428.2	NP_000419.1:p.(Asn972=)	NC_000014.8:g.74978060G>A	(Likely) benign	1 lab	a55e30a678
10:77542765 LRMDA A>C	10	77542765	77542765	A	C	LRMDA	c.32A>C	NM_032024.4	NP_114413.1:p.(His11Pro)	NC_000010.10:g.77542765A>C	(Likely) benign	1 lab	a55ef27308
19:48698979 ZSWIM9 G>A	19	48698979	48698979	G	A	ZSWIM9	c.1658G>A	NM_199341.4	NP_955373.3:p.(Gly553Glu)	NC_000019.9:g.48698979G>A	VUS	1 lab	a56078e128
X:24383483 SUPT20HL1 T>C	X	24383483	24383483	T	C	SUPT20HL1	c.2684T>C	NM_001136234.2	NP_001129706.2:p.(Val895Ala)	NC_000023.10:g.24383483T>C	VUS	1 lab	a560d313a2
10:97371177 ALDH18A1 T>C	10	97371177	97371177	T	C	ALDH18A1	c.1946A>G	NM_001323413.1	NP_001310342.1:p.(Lys649Arg)	NC_000010.10:g.97371177T>C	(Likely) benign	1 lab	a561442ab0
1:213032096 FLVCR1 C>T	1	213032096	213032096	C	T	FLVCR1	c.302C>T	NM_014053.3	NP_054772.1:p.(Thr101Met)	NC_000001.10:g.213032096C>T	VUS	1 lab	a565d7da87
1:243828214 AKT3 A>G	1	243828214	243828214	A	G	AKT3				NC_000001.10:g.243828214A>G	(Likely) benign	1 lab	a568b9fdc0
1:40542506 PPT1 C>T	1	40542506	40542506	C	T	PPT1	c.798+8G>A	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40542506C>T	(Likely) benign	1 lab	a568cfcffc
8:144992852 PLEC C>T	8	144992852	144992852	C	T	PLEC	c.11548G>A	NM_201380.3	NP_958782.1:p.(Gly3850Arg)	NC_000008.10:g.144992852C>T	VUS	1 lab	a56bade3a6
X:15365419 VEGFD A>C	X	15365419	15365419	A	C	VEGFD	c.805T>G	NM_004469.4	NP_004460.1:p.(Cys269Gly)	NC_000023.10:g.15365419A>C	VUS	1 lab	a56c637e1f
9:2648747 VLDLR C>T	9	2648747	2648747	C	T	VLDLR	c.2041C>T	NM_003383.4	NP_003374.3:p.(Leu681=)	NC_000009.11:g.2648747C>T	(Likely) benign	1 lab	a56d1beedd
18:50683873 DCC G>A	18	50683873	50683873	G	A	DCC	c.1409G>A	NM_005215.3	NP_005206.2:p.(Gly470Asp)	NC_000018.9:g.50683873G>A	VUS	1 lab	a56e4c100b
19:42754704 ERF CGGGAAGG>C	19	42754704	42754711	CGGGAAGG	C	ERF	c.29_35del	NM_006494.4	NP_006485.2:p.(Ala10GlyfsTer65)	NC_000019.9:g.42754705_42754711del	(Likely) pathogenic	1 lab	a56fb2d3d9
14:23587786 CEBPE C>A	14	23587786	23587786	C	A	CEBPE				NC_000014.8:g.23587786C>A	VUS	1 lab	a5731ee425
X:66765145 AR AGTTTGCTGCTGCT>A	X	66765145	66765159	AGTTTGCTGCTGCT	A	AR	c.159_171del	NM_000044.6	NP_000035.2:p.(Leu54SerfsTer117)	NC_000023.10:g.66765147_66765159del	(Likely) pathogenic	1 lab	a573495b7a
15:44876525 SPG11 G>A	15	44876525	44876525	G	A	SPG11	c.5353C>T	NM_025137.3	NP_079413.3:p.(Gln1785Ter)	NC_000015.9:g.44876525G>A	(Likely) pathogenic	1 lab	a575393f01
8:145739019 RECQL4 G>A	8	145739019	145739019	G	A	RECQL4	c.2136C>T	NM_004260.3	NP_004251.3:p.(Asp712=)	NC_000008.10:g.145739019G>A	(Likely) benign	1 lab	a57544f2c2
1:977329 AGRN G>A	1	977329	977329	G	A	AGRN	c.863-7G>A	NM_001364727.1	NP_001351656.1:p.?	NC_000001.10:g.977329G>A	(Likely) benign	1 lab	a57637ba16
X:68059492 EFNB1 G>A	X	68059492	68059492	G	A	EFNB1	c.407-15G>A	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68059492G>A	(Likely) pathogenic	1 lab	a576478ce0
15:85383673 ALPK3 A>T	15	85383673	85383673	A	T	ALPK3	c.1769A>T	NM_020778.4	NP_065829.3:p.(Lys590Met)	NC_000015.9:g.85383673A>T	VUS	1 lab	a576cf12d4
12:124184324 TCTN2 G>A	12	124184324	124184324	G	A	TCTN2	c.1579G>A	NM_024809.4	NP_079085.2:p.(Ala527Thr)	NC_000012.11:g.124184324G>A	(Likely) benign	1 lab	a5787f7d59
17:79477848 ACTG1 G>T	17	79477848	79477848	G	T	ACTG1	c.996C>A	NM_001199954.2	NP_001186883.1:p.(Pro332=)	NC_000017.10:g.79477848G>T	(Likely) benign	1 lab	a579126a75
11:17667395 OTOG G>A	11	17667395	17667395	G	A	OTOG	c.8682G>A	NM_001277269.1	NP_001264198.1:p.(Leu2894=)	NC_000011.9:g.17667395G>A	(Likely) benign	1 lab	a579da7b42
17:42152326 G6PC3 CTT>C	17	42152326	42152328	CTT	C	G6PC3	c.417-10_417-9del	NM_138387.4	NP_612396.1:p.?	NC_000017.10:g.42152327_42152328del	(Likely) benign	1 lab	a57a2af581
12:21008091 SLCO1B3 A>G	12	21008091	21008091	A	G	SLCO1B3	c.214A>G	NM_019844.3	NP_062818.1:p.(Ser72Gly)	NC_000012.11:g.21008091A>G	VUS	1 lab	a57aa2db0c
X:49961628 AKAP4 T>A	X	49961628	49961628	T	A	AKAP4	c.190A>T	NM_003886.2	NP_003877.2:p.(Ser64Cys)	NC_000023.10:g.49961628T>A	(Likely) benign	1 lab	a57b9b97bc
X:154507274 CLIC2 G>C	X	154507274	154507274	G	C	CLIC2	c.662C>G	NM_001289.5	NP_001280.3:p.(Ala221Gly)	NC_000023.10:g.154507274G>C	(Likely) benign	1 lab	a57bd2d1f1
X:12828182 PRPS2 C>G	X	12828182	12828182	C	G	PRPS2	c.456C>G	NM_001039091.2	NP_001034180.1:p.(Pro152=)	NC_000023.10:g.12828182C>G	(Likely) benign	1 lab	a57c1ba899
10:61865712 ANK3 A>T	10	61865712	61865712	A	T	ANK3	c.3279T>A	NM_020987.5	NP_066267.2:p.(Phe1093Leu)	NC_000010.10:g.61865712A>T	VUS	1 lab	a57c728812
16:88713167 CYBA G>C	16	88713167	88713167	G	C	CYBA				NC_000016.9:g.88713167G>C	(Likely) benign	1 lab	a57f2cd763
7:128845067 SMO CAACA>C	7	128845067	128845071	CAACA	C	SMO	c.562_565del	NM_005631.5	NP_005622.1:p.(Asn188ValfsTer113)	NC_000007.13:g.128845068_128845071del	(Likely) pathogenic	1 lab	a57f8a3c37
5:33944830 SLC45A2 C>T	5	33944830	33944830	C	T	SLC45A2	c.1516G>A	NM_016180.4	NP_057264.3:p.(Val506Ile)	NC_000005.9:g.33944830C>T	(Likely) benign	1 lab	a5810a05e6
17:29684417 NF1 C>A	17	29684417	29684417	C	A	NF1	c.7907+30C>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684417C>A	(Likely) benign	1 lab	a581dc3d22
X:151092264 MAGEA4 C>G	X	151092264	151092264	C	G	MAGEA4	c.128C>G	NM_002362.4	NP_002353.3:p.(Ser43Cys)	NC_000023.10:g.151092264C>G	(Likely) benign	1 lab	a58294ff9f
7:97800879 LMTK2 C>T	7	97800879	97800879	C	T	LMTK2	c.684C>T	NM_014916.3	NP_055731.2:p.(Ser228=)	NC_000007.13:g.97800879C>T	(Likely) benign	1 lab	a582e27ea6
16:30764880 PHKG2 T>TGA	16	30764880	30764883	T	TGA	PHKG2	c.556+4_556+5dup	NM_000294.2	NP_000285.1:p.?	NC_000016.9:g.30764882_30764883dup	(Likely) benign	1 lab	a583f9eae1
X:152806932 ATP2B3 C>T	X	152806932	152806932	C	T	ATP2B3	c.324C>T	NM_021949.3	NP_068768.2:p.(Asp108=)	NC_000023.10:g.152806932C>T	(Likely) benign	1 lab	a5898dbeaf
X:71895945 PHKA1 T>C	X	71895945	71895945	T	C	PHKA1	c.593A>G	NM_002637.3	NP_002628.2:p.(Asn198Ser)	NC_000023.10:g.71895945T>C	VUS	1 lab	a589c4314b
20:21143779 KIZ C>G	20	21143779	21143779	C	G	KIZ	c.1331C>G	NM_018474.5	NP_060944.3:p.(Ser444Cys)	NC_000020.10:g.21143779C>G	VUS	1 lab	a58b9c894b
3:132407481 NPHP3 T>TA	3	132407481	132407487	T	TA	NPHP3	c.3125+12dup	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132407487dup	(Likely) benign	1 lab	a58cc379e6
11:66411150 RBM4 G>T	11	66411150	66411150	G	T	RBM4	c.642G>T	NM_002896.3	NP_002887.2:p.(Ala214=)	NC_000011.9:g.66411150G>T	(Likely) benign	1 lab	a58ea0dc8f
17:4906919 KIF1C A>G	17	4906919	4906919	A	G	KIF1C	c.733A>G	NM_006612.5	NP_006603.2:p.(Ser245Gly)	NC_000017.10:g.4906919A>G	VUS	1 lab	a58f11f6a4
X:148044330 AFF2 C>T	X	148044330	148044330	C	T	AFF2	c.2776C>T	NM_002025.3	NP_002016.2:p.(Arg926Cys)	NC_000023.10:g.148044330C>T	(Likely) benign	1 lab	a58f9c55bd
3:130282298 COL6A6 T>C	3	130282298	130282298	T	C	COL6A6	c.451T>C	NM_001102608.2	NP_001096078.1:p.(Ser151Pro)	NC_000003.11:g.130282298T>C	VUS	1 lab	a58fa94fd2
X:53263878 IQSEC2 C>T	X	53263878	53263878	C	T	IQSEC2	c.3990G>A	NM_001111125.2	NP_001104595.1:p.(Gly1330=)	NC_000023.10:g.53263878C>T	(Likely) benign	1 lab	a59133db9b
1:57425780 C8B C>A	1	57425780	57425780	C	A	C8B	c.6G>T	NM_001278543.1	NP_001265472.1:p.(Arg2=)	NC_000001.10:g.57425780C>A	(Likely) benign	1 lab	a591dc998d
19:1615759 TCF3 G>A	19	1615759	1615759	G	A	TCF3	c.1512C>T	NM_003200.5	NP_003191.1:p.(Asp504=)	NC_000019.9:g.1615759G>A	(Likely) benign	1 lab	a59547122b
1:197111665 ASPM G>A	1	197111665	197111665	G	A	ASPM	c.1717C>T	NM_018136.4	NP_060606.3:p.(Arg573Trp)	NC_000001.10:g.197111665G>A	VUS	1 lab	a595c9fd30
X:10469477 MID1 G>A	X	10469477	10469477	G	A	MID1	c.879C>T	NM_001193278.1	NP_001180207.1:p.(Arg293=)	NC_000023.10:g.10469477G>A	(Likely) benign	1 lab	a59705f848
15:77577423 PEAK1 C>CA	15	77577423	77577439	C	CA	PEAK1	c.-395-4dup	NM_024776.3	NP_079052.2:p.?	NC_000015.9:g.77577439dup	(Likely) benign	1 lab	a5983a81ca
1:161596165 FCGR3B C>T	1	161596165	161596165	C	T	FCGR3B	c.296G>A	NM_001271036.1	NP_001257965.1:p.(Trp99Ter)	NC_000001.10:g.161596165C>T	VUS	1 lab	a599152ca8
18:2940659 LPIN2 G>C	18	2940659	2940659	G	C	LPIN2	c.642C>G	NM_014646.2	NP_055461.1:p.(Leu214=)	NC_000018.9:g.2940659G>C	(Likely) benign	1 lab	a59933a9eb
14:50100194 DNAAF2 T>C	14	50100194	50100194	T	C	DNAAF2	c.1674A>G	NM_018139.2	NP_060609.2:p.(Lys558=)	NC_000014.8:g.50100194T>C	(Likely) benign	1 lab	a59a67b884
9:135786011 TSC1 CCGAATGACAGAGTG>C	9	135786011	135786025	CCGAATGACAGAGTG	C	TSC1	c.1196_1209del	NM_000368.5	NP_000359.1:p.(Pro399ArgfsTer2)	NC_000009.11:g.135786012_135786025del	(Likely) pathogenic	1 lab	a59ef2e601
9:80039068 GNA14 T>C	9	80039068	80039068	T	C	GNA14	c.895A>G	NM_004297.4	NP_004288.1:p.(Arg299Gly)	NC_000009.11:g.80039068T>C	VUS	1 lab	a5a009e291
X:67943646 STARD8 G>A	X	67943646	67943646	G	A	STARD8	c.2978G>A	NM_001142503.2	NP_001135975.1:p.(Ser993Asn)	NC_000023.10:g.67943646G>A	VUS	1 lab	a5a130847f
X:72299136 PABPC1L2A G>A	X	72299136	72299136	G	A	PABPC1L2A	c.90C>T	NM_001012977.2	NP_001012995.1:p.(Ser30=)	NC_000023.10:g.72299136G>A	(Likely) benign	1 lab	a5a2f1faff
12:15803858 EPS8 T>C	12	15803858	15803858	T	C	EPS8	c.1333A>G	NM_004447.5	NP_004438.3:p.(Met445Val)	NC_000012.11:g.15803858T>C	VUS	1 lab	a5a34455c8
18:50832098 DCC T>C	18	50832098	50832098	T	C	DCC	c.2053+9T>C	NM_005215.3	NP_005206.2:p.?	NC_000018.9:g.50832098T>C	(Likely) benign	1 lab	a5a4d52951
17:29548939 NF1 G>A	17	29548939	29548939	G	A	NF1	c.1713G>A	NM_000267.3	NP_000258.1:p.(Trp571Ter)	NC_000017.10:g.29548939G>A	(Likely) pathogenic	1 lab	a5a6062b8a
19:6693046 C3 G>A	19	6693046	6693046	G	A	C3	c.3279C>T	NM_000064.2	NP_000055.2:p.(Ile1093=)	NC_000019.9:g.6693046G>A	(Likely) benign	1 lab	a5a74c6792
1:169487686 F5 C>T	1	169487686	169487686	C	T	F5	c.6309G>A	NM_000130.4	NP_000121.2:p.(Leu2103=)	NC_000001.10:g.169487686C>T	(Likely) benign	1 lab	a5a93cab20
15:34393811 EMC7 A>C	15	34393811	34393811	A	C	EMC7	c.230T>G	NM_020154.3	NP_064539.1:p.(Phe77Cys)	NC_000015.9:g.34393811A>C	VUS	1 lab	a5accaa7ea
12:53186544 KRT3 A>G	12	53186544	53186544	A	G	KRT3	c.974T>C	NM_057088.2	NP_476429.2:p.(Val325Ala)	NC_000012.11:g.53186544A>G	(Likely) benign	1 lab	a5af47d58a
9:136501834 DBH T>C	9	136501834	136501834	T	C	DBH	c.339+2T>C	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136501834T>C	(Likely) pathogenic	1 lab	a5afe84138
1:1168177 B3GALT6 C>T	1	1168177	1168177	C	T	B3GALT6	c.519C>T	NM_080605.4	NP_542172.2:p.(Arg173=)	NC_000001.10:g.1168177C>T	(Likely) benign	1 lab	a5b0d52dd4
2:31600043 XDH T>C	2	31600043	31600043	T	C	XDH	c.1303A>G	NM_000379.3	NP_000370.2:p.(Thr435Ala)	NC_000002.11:g.31600043T>C	VUS	1 lab	a5b1027f08
2:179443996 TTN C>G	2	179443996	179443996	C	G	TTN	c.67761G>C	NM_001267550.1	NP_001254479.1:p.(Gly22587=)	NC_000002.11:g.179443996C>G	(Likely) benign	1 lab	a5b12e4acf
9:34512199 DNAI1 G>A	9	34512199	34512199	G	A	DNAI1	c.1413+3G>A	NM_001281428.1	NP_001268357.1:p.?	NC_000009.11:g.34512199G>A	(Likely) benign	1 lab	a5b141dc3a
5:176675193 NSD1 G>A	5	176675193	176675193	G	A	NSD1	c.4509G>A	NM_022455.4	NP_071900.2:p.(Met1503Ile)	NC_000005.9:g.176675193G>A	(Likely) benign	1 lab	a5b44df844
2:179395515 TTN T>C	2	179395515	179395515	T	C	TTN	c.105827A>G	NM_001267550.1	NP_001254479.1:p.(Lys35276Arg)	NC_000002.11:g.179395515T>C	(Likely) benign	1 lab	a5b539a2a8
19:5719847 LONP1 G>A	19	5719847	5719847	G	A	LONP1	c.297C>T	NM_004793.3	NP_004784.2:p.(Gly99=)	NC_000019.9:g.5719847G>A	(Likely) benign	1 lab	a5b6331cb5
19:1397362 GAMT C>G	19	1397362	1397362	C	G	GAMT	c.707G>C	NM_000156.5	NP_000147.1:p.(Gly236Ala)	NC_000019.9:g.1397362C>G	(Likely) benign	1 lab	a5b7032d49
10:13340238 PHYH T>C	10	13340238	13340238	T	C	PHYH	c.83A>G	NM_006214.3	NP_006205.1:p.(His28Arg)	NC_000010.10:g.13340238T>C	(Likely) benign	1 lab	a5b74253c3
16:31213068 PYCARD C>A	16	31213068	31213068	C	A	PYCARD	c.426G>T	NM_013258.4	NP_037390.2:p.(Thr142=)	NC_000016.9:g.31213068C>A	(Likely) benign	1 lab	a5b8171a83
7:1132178 GPER1 T>C	7	1132178	1132178	T	C	GPER1	c.814T>C	NM_001039966.1	NP_001035055.1:p.(Trp272Arg)	NC_000007.13:g.1132178T>C	VUS	1 lab	a5b82274ab
14:105413982 AHNAK2 C>G	14	105413982	105413982	C	G	AHNAK2	c.7806G>C	NM_138420.3	NP_612429.2:p.(Val2602=)	NC_000014.8:g.105413982C>G	(Likely) benign	1 lab	a5b9aa6730
12:56566456 SMARCC2 A>G	12	56566456	56566456	A	G	SMARCC2	c.1776T>C	NM_001330288.2	NP_001317217.1:p.(Phe592=)	NC_000012.11:g.56566456A>G	(Likely) benign	1 lab	a5bb268298
X:99848928 TNMD GAGA>G	X	99848928	99848940	GAGA	G	TNMD	c.227_229del	NM_022144.3	NP_071427.2:p.(Lys76del)	NC_000023.10:g.99848938_99848940del	VUS	1 lab	a5bc9c1b61
1:160201174 DCAF8 T>C	1	160201174	160201174	T	C	DCAF8	c.983A>G	NM_015726.3	NP_056541.2:p.(Lys328Arg)	NC_000001.10:g.160201174T>C	VUS	1 lab	a5bd86ddae
16:5125414 ALG1 C>T	16	5125414	5125414	C	T	ALG1	c.416C>T	NM_019109.4	NP_061982.3:p.(Ala139Val)	NC_000016.9:g.5125414C>T	(Likely) benign	1 lab	a5bf1754c7
8:33370003 TTI2 TC>T	8	33370003	33370004	TC	T	TTI2	c.128del	NM_001102401.4	NP_001095871.1:p.(Arg43HisfsTer5)	NC_000008.10:g.33370004del	VUS	1 lab	a5bf9b64bd
X:147743467 AFF2 C>T	X	147743467	147743467	C	T	AFF2	c.219C>T	NM_002025.3	NP_002016.2:p.(Asn73=)	NC_000023.10:g.147743467C>T	(Likely) benign	1 lab	a5c3072f14
4:106967749 TBCK G>A	4	106967749	106967749	G	A	TBCK	c.2144C>T	NM_001290768.1	NP_001277697.1:p.(Thr715Ile)	NC_000004.11:g.106967749G>A	(Likely) benign	1 lab	a5c4004508
X:70149828 SLC7A3 C>G	X	70149828	70149828	C	G	SLC7A3	c.20G>C	NM_032803.5	NP_116192.4:p.(Arg7Pro)	NC_000023.10:g.70149828C>G	VUS	1 lab	a5c5a334d1
8:145006812 PLEC G>A	8	145006812	145006812	G	A	PLEC	c.2217C>T	NM_201380.3	NP_958782.1:p.(Ala739=)	NC_000008.10:g.145006812G>A	(Likely) benign	1 lab	a5c5a9d940
17:42552252 GPATCH8 T>A	17	42552252	42552252	T	A	GPATCH8	c.65A>T	NM_001002909.3	NP_001002909.1:p.(Tyr22Phe)	NC_000017.10:g.42552252T>A	(Likely) benign	1 lab	a5c640cfcd
22:50721250 PLXNB2 C>T	22	50721250	50721250	C	T	PLXNB2	c.2877G>A	NM_012401.4	NP_036533.2:p.(Met959Ile)	NC_000022.10:g.50721250C>T	(Likely) benign	1 lab	a5c7949cf6
3:135978028 PCCB G>T	3	135978028	135978028	G	T	PCCB	c.383G>T	NM_001178014.1	NP_001171485.1:p.(Gly128Val)	NC_000003.11:g.135978028G>T	VUS	1 lab	a5c80a92ae
2:209190975 PIKFYVE G>A	2	209190975	209190975	G	A	PIKFYVE	c.3440G>A	NM_015040.3	NP_055855.2:p.(Ser1147Asn)	NC_000002.11:g.209190975G>A	VUS	1 lab	a5c9936ce3
4:126389832 FAT4 G>A	4	126389832	126389832	G	A	FAT4	c.12065G>A	NM_024582.4	NP_078858.4:p.(Arg4022Gln)	NC_000004.11:g.126389832G>A	(Likely) benign	1 lab	a5ca97a8d4
8:29006224 KIF13B G>A	8	29006224	29006224	G	A	KIF13B	c.1683C>T	NM_015254.4	NP_056069.2:p.(Ser561=)	NC_000008.10:g.29006224G>A	(Likely) benign	1 lab	a5ccedd61c
X:106097474 TBC1D8B G>A	X	106097474	106097474	G	A	TBC1D8B	c.2300G>A	NM_017752.2	NP_060222.2:p.(Arg767Gln)	NC_000023.10:g.106097474G>A	(Likely) benign	1 lab	a5ce5c3ae3
12:110720416 ATP2A2 G>T	12	110720416	110720416	G	T	ATP2A2	c.126G>T	NM_170665.4	NP_733765.1:p.(Pro42=)	NC_000012.11:g.110720416G>T	(Likely) benign	1 lab	a5cf1f9b74
17:61571831 ACE G>A	17	61571831	61571831	G	A	ACE	c.3380G>A	NM_000789.3	NP_000780.1:p.(Arg1127Lys)	NC_000017.10:g.61571831G>A	VUS	1 lab	a5d268f9ad
3:113847689 DRD3 G>A	3	113847689	113847689	G	A	DRD3	c.1077C>T	NM_000796.5	NP_000787.2:p.(His359=)	NC_000003.11:g.113847689G>A	(Likely) benign	1 lab	a5d29babe2
2:27676938 IFT172 G>A	2	27676938	27676938	G	A	IFT172	c.3622C>T	NM_015662.2	NP_056477.1:p.(Arg1208Trp)	NC_000002.11:g.27676938G>A	VUS	1 lab	a5d2f6755f
2:111419353 BUB1 T>C	2	111419353	111419353	T	C	BUB1	c.1023A>G	NM_004336.4	NP_004327.1:p.(Pro341=)	NC_000002.11:g.111419353T>C	(Likely) benign	1 lab	a5d403e599
9:135787691 TSC1 A>T	9	135787691	135787691	A	T	TSC1	c.891T>A	NM_000368.4	NP_000359.1:p.(Tyr297Ter)	NC_000009.11:g.135787691A>T	(Likely) pathogenic	1 lab	a5d77019a7
19:1231085 CBARP T>C	19	1231085	1231085	T	C	CBARP	c.1169A>G	NM_152769.2	NP_689982.3:p.(Asp390Gly)	NC_000019.9:g.1231085T>C	(Likely) benign	1 lab	a5d77fea79
12:80626779 OTOGL G>C	12	80626779	80626779	G	C	OTOGL	c.692G>C	NM_173591.3	NP_775862.3:p.(Gly231Ala)	NC_000012.11:g.80626779G>C	VUS	1 lab	a5dd61a381
17:80788546 ZNF750 G>A	17	80788546	80788546	G	A	ZNF750	c.1644C>T	NM_024702.2	NP_078978.2:p.(Asp548=)	NC_000017.10:g.80788546G>A	(Likely) benign	1 lab	a5de4fdc9f
8:133905992 TG A>C	8	133905992	133905992	A	C	TG	c.2819A>C	NM_003235.4	NP_003226.4:p.(Glu940Ala)	NC_000008.10:g.133905992A>C	VUS	1 lab	a5ded86056
16:2147336 PKD1 T>C	16	2147336	2147336	T	C	PKD1	c.10389A>G	NM_001009944.2	NP_001009944.2:p.(Lys3463=)	NC_000016.9:g.2147336T>C	(Likely) benign	1 lab	a5df037182
X:153034494 PLXNB3 G>A	X	153034494	153034494	G	A	PLXNB3	c.1427G>A	NM_001163257.1	NP_001156729.1:p.(Ser476Asn)	NC_000023.10:g.153034494G>A	(Likely) benign	1 lab	a5e2f92342
2:179400943 TTN T>A	2	179400943	179400943	T	A	TTN	c.100531A>T	NM_001267550.1	NP_001254479.1:p.(Ser33511Cys)	NC_000002.11:g.179400943T>A	VUS	1 lab	a5e3aff5cc
21:45789156 TRPM2 G>T	21	45789156	45789156	G	T	TRPM2	c.701G>T	NM_001320350.1	NP_001307279.1:p.(Gly234Val)	NC_000021.8:g.45789156G>T	(Likely) benign	1 lab	a5e4d769fc
16:2327918 ABCA3 A>G	16	2327918	2327918	A	G	ABCA3	c.4871T>C	NM_001089.2	NP_001080.2:p.(Leu1624Pro)	NC_000016.9:g.2327918A>G	VUS	1 lab	a5e4d84e1f
18:19433102 MIB1 T>TTG	18	19433102	19433104	T	TTG	MIB1	c.2589_2590dup	NM_020774.3	NP_065825.1:p.(Glu864ValfsTer31)	NC_000018.9:g.19433103_19433104dup	(Likely) pathogenic	1 lab	a5e640cca6
1:196971630 CFHR5 G>T	1	196971630	196971630	G	T	CFHR5	c.1166G>T	NM_030787.3	NP_110414.1:p.(Cys389Phe)	NC_000001.10:g.196971630G>T	(Likely) benign	1 lab	a5e6759856
2:98413917 TMEM131 G>T	2	98413917	98413917	G	T	TMEM131	c.2781C>A	NM_015348.2	NP_056163.1:p.(Asn927Lys)	NC_000002.11:g.98413917G>T	VUS	1 lab	a5e958fb53
11:76867055 MYO7A A>T	11	76867055	76867055	A	T	MYO7A	c.388A>T	NM_000260.3	NP_000251.3:p.(Met130Leu)	NC_000011.9:g.76867055A>T	VUS	1 lab	a5e9958447
6:31324003 HLA-B T>C	6	31324003	31324003	T	C	HLA-B	c.560A>G	NM_005514.7	NP_005505.2:p.(Glu187Gly)	NC_000006.11:g.31324003T>C	VUS	1 lab	a5ea0e817c
X:115303642 AGTR2 C>G	X	115303642	115303642	C	G	AGTR2	c.109C>G	NM_000686.4	NP_000677.2:p.(Gln37Glu)	NC_000023.10:g.115303642C>G	(Likely) benign	1 lab	a5ea349416
11:17582315 OTOG G>A	11	17582315	17582315	G	A	OTOG	c.1438G>A	NM_001277269.1	NP_001264198.1:p.(Gly480Arg)	NC_000011.9:g.17582315G>A	VUS	1 lab	a5eae60eeb
14:105409105 AHNAK2 T>C	14	105409105	105409105	T	C	AHNAK2	c.12683A>G	NM_138420.3	NP_612429.2:p.(Lys4228Arg)	NC_000014.8:g.105409105T>C	(Likely) benign	1 lab	a5eb50bd70
12:48375952 COL2A1 AG>A	12	48375952	48375953	AG	A	COL2A1	c.2302-10del	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375953del	(Likely) benign	1 lab	a5eb921ad9
7:5347878 TNRC18 C>G	7	5347878	5347878	C	G	TNRC18	c.8766G>C	NM_001080495.2	NP_001073964.2:p.(Leu2922=)	NC_000007.13:g.5347878C>G	(Likely) benign	1 lab	a5ed1db674
16:2131683 TSC2 A>AC	16	2131683	2131684	A	AC	TSC2	c.3699dup	NM_000548.3	NP_000539.2:p.(Ala1234ArgfsTer6)	NC_000016.9:g.2131684dup	(Likely) pathogenic	1 lab	a5eeb2549e
16:2150189 PKD1 C>T	16	2150189	2150189	C	T	PKD1	c.9690G>A	NM_001009944.2	NP_001009944.2:p.(Val3230=)	NC_000016.9:g.2150189C>T	(Likely) benign	1 lab	a5f04c848d
16:88902183 GALNS G>A	16	88902183	88902183	G	A	GALNS	c.708C>T	NM_000512.4	NP_000503.1:p.(His236=)	NC_000016.9:g.88902183G>A	(Likely) benign	1 lab	a5f2a9fb21
7:781083 DNAAF5 A>C	7	781083	781083	A	C	DNAAF5	c.1005A>C	NM_017802.3	NP_060272.3:p.(Pro335=)	NC_000007.13:g.781083A>C	(Likely) benign	1 lab	a5f2b5f4e2
19:6751055 TRIP10 A>C	19	6751055	6751055	A	C	TRIP10	c.1500A>C	NM_001288963.1	NP_001275892.1:p.(Pro500=)	NC_000019.9:g.6751055A>C	(Likely) benign	1 lab	a5f45db4fb
7:5540512 FBXL18 A>G	7	5540512	5540512	A	G	FBXL18	c.1388T>C	NM_024963.6	NP_079239.3:p.(Phe463Ser)	NC_000007.13:g.5540512A>G	(Likely) benign	1 lab	a5f496719b
11:47372951 MYBPC3 C>T	11	47372951	47372951	C	T	MYBPC3	c.131G>A	NM_000256.3	NP_000247.2:p.(Arg44His)	NC_000011.9:g.47372951C>T	VUS	1 lab	a5f607005c
20:57429310 GNAS C>T	20	57429310	57429310	C	T	GNAS	c.803C>T	NM_001077490.2	NP_001070958.1:p.(Ser268Leu)	NC_000020.10:g.57429310C>T	(Likely) benign	1 lab	a5f84ab742
14:88459793 GALC C>T	14	88459793	88459793	C	T	GALC	c.51G>A	NM_001201402.1	NP_001188331.1:p.(Ala17=)	NC_000014.8:g.88459793C>T	(Likely) benign	1 lab	a5f856c1d1
9:135203675 SETX G>C	9	135203675	135203675	G	C	SETX	c.3310C>G	NM_001351527.1	NP_001338456.1:p.(Gln1104Glu)	NC_000009.11:g.135203675G>C	(Likely) benign	1 lab	a5fca1b9b2
16:70874110 HYDIN G>A	16	70874110	70874110	G	A	HYDIN	c.12900C>T	NM_001270974.2	NP_001257903.1:p.(Cys4300=)	NC_000016.9:g.70874110G>A	VUS	1 lab	a5fe73a71f
16:30990694 SETD1A C>T	16	30990694	30990694	C	T	SETD1A	c.3587C>T	NM_014712.2	NP_055527.1:p.(Ser1196Phe)	NC_000016.9:g.30990694C>T	VUS	1 lab	a5ff2f3a21
12:2939951 NRIP2 G>A	12	2939951	2939951	G	A	NRIP2	c.418C>T	NM_031474.3	NP_113662.1:p.(Gln140Ter)	NC_000012.11:g.2939951G>A	VUS	1 lab	a600f0c07c
X:1719999 AKAP17A G>A	X	1719999	1719999	G	A	AKAP17A	c.1600G>A	NM_005088.2	NP_005079.2:p.(Glu534Lys)	NC_000023.10:g.1719999G>A	(Likely) benign	1 lab	a601891c2e
14:102843129 TECPR2 C>T	14	102843129	102843129	C	T	TECPR2	c.71C>T	NM_014844.4	NP_055659.2:p.(Pro24Leu)	NC_000014.8:g.102843129C>T	VUS	1 lab	a601c2ebbc
16:9857196 GRIN2A C>G	16	9857196	9857196	C	G	GRIN2A	c.4205G>C	NM_001134407.3	NP_001127879.1:p.(Arg1402Pro)	NC_000016.9:g.9857196C>G	VUS	1 lab	a6026cd371
9:79933459 VPS13A C>T	9	79933459	79933459	C	T	VPS13A	c.5265C>T	NM_033305.2	NP_150648.2:p.(Gly1755=)	NC_000009.11:g.79933459C>T	VUS	1 lab	a6034d18d4
1:242042364 EXO1 A>G	1	242042364	242042364	A	G	EXO1	c.1828A>G	NM_130398.3	NP_569082.2:p.(Ser610Gly)	NC_000001.10:g.242042364A>G	(Likely) benign	1 lab	a6064cdb9a
9:139907969 ABCA2 G>A	9	139907969	139907969	G	A	ABCA2	c.4494C>T	NM_001606.5	NP_001597.2:p.(Tyr1498=)	NC_000009.11:g.139907969G>A	(Likely) benign	1 lab	a6070f94d6
2:179472566 TTN C>T	2	179472566	179472566	C	T	TTN	c.52948G>A	NM_001267550.1	NP_001254479.1:p.(Ala17650Thr)	NC_000002.11:g.179472566C>T	VUS	1 lab	a60715fb25
12:133197699 P2RX2 C>T	12	133197699	133197699	C	T	P2RX2	c.887C>T	NM_001282165.1	NP_001269094.1:p.(Ser296Leu)	NC_000012.11:g.133197699C>T	(Likely) benign	1 lab	a6082843c6
X:48336339 FTSJ1 C>T	X	48336339	48336339	C	T	FTSJ1	c.-87-10C>T	NM_177439.2	NP_803188.1:p.?	NC_000023.10:g.48336339C>T	(Likely) benign	1 lab	a608dd2fda
X:7066112 PUDP T>C	X	7066112	7066112	T	C	PUDP	c.43A>G	NM_001135565.1	NP_001129037.1:p.(Met15Val)	NC_000023.10:g.7066112T>C	(Likely) benign	1 lab	a60a6f8fe4
X:73812025 RLIM C>A	X	73812025	73812025	C	A	RLIM	c.1125G>T	NM_183353.2	NP_899196.1:p.(Val375=)	NC_000023.10:g.73812025C>A	(Likely) benign	1 lab	a60d0ba6c9
19:19168369 ARMC6 C>T	19	19168369	19168369	C	T	ARMC6	c.1438C>T	NM_001199196.2	NP_001186125.1:p.(Arg480Trp)	NC_000019.9:g.19168369C>T	VUS	1 lab	a60da3c019
7:5427446 TNRC18 C>G	7	5427446	5427446	C	G	TNRC18	c.2009G>C	NM_001080495.2	NP_001073964.2:p.(Gly670Ala)	NC_000007.13:g.5427446C>G	VUS	1 lab	a60df5a2f2
X:136649077 ZIC3 C>T	X	136649077	136649077	C	T	ZIC3	c.227C>T	NM_003413.3	NP_003404.1:p.(Pro76Leu)	NC_000023.10:g.136649077C>T	VUS	1 lab	a60e58cf1f
22:21084176 PI4KA C>T	22	21084176	21084176	C	T	PI4KA	c.4408+4G>A	NM_058004.3	NP_477352.3:p.?	NC_000022.10:g.21084176C>T	(Likely) benign	1 lab	a60f7f4be4
12:111954062 ATXN2 G>A	12	111954062	111954062	G	A	ATXN2	c.1751C>T	NM_002973.3	NP_002964.3:p.(Pro584Leu)	NC_000012.11:g.111954062G>A	VUS	1 lab	a60f887cc3
2:109369459 RANBP2 C>T	2	109369459	109369459	C	T	RANBP2	c.1761C>T	NM_006267.4	NP_006258.3:p.(Ser587=)	NC_000002.11:g.109369459C>T	(Likely) benign	1 lab	a60fefe064
19:5144353 KDM4B C>T	19	5144353	5144353	C	T	KDM4B	c.2831C>T	NM_015015.3	NP_055830.1:p.(Ser944Leu)	NC_000019.9:g.5144353C>T	VUS	1 lab	a6124a8dca
9:113259193 SVEP1 T>A	9	113259193	113259193	T	A	SVEP1	c.1702A>T	NM_153366.4	NP_699197.3:p.(Asn568Tyr)	NC_000009.11:g.113259193T>A	(Likely) benign	1 lab	a614b36eb2
4:96045029 BMPR1B G>A	4	96045029	96045029	G	A	BMPR1B	c.418G>A	NM_001203.2	NP_001194.1:p.(Val140Ile)	NC_000004.11:g.96045029G>A	VUS	1 lab	a6154a4249
22:38153950 TRIOBP G>A	22	38153950	38153950	G	A	TRIOBP	c.6018G>A	NM_001039141.2	NP_001034230.1:p.(Pro2006=)	NC_000022.10:g.38153950G>A	(Likely) benign	1 lab	a616225e39
2:179557246 TTN T>A	2	179557246	179557246	T	A	TTN	c.31656A>T	NM_001267550.1	NP_001254479.1:p.(Lys10552Asn)	NC_000002.11:g.179557246T>A	VUS	1 lab	a61648605d
17:36493518 GPR179 C>A	17	36493518	36493518	C	A	GPR179	c.989G>T	NM_001004334.3	NP_001004334.3:p.(Gly330Val)	NC_000017.10:g.36493518C>A	(Likely) benign	1 lab	a616bc5d87
2:220078853 ABCB6 A>G	2	220078853	220078853	A	G	ABCB6	c.1442T>C	NM_005689.2	NP_005680.1:p.(Ile481Thr)	NC_000002.11:g.220078853A>G	(Likely) benign	1 lab	a61713b05d
8:42294512 SLC20A2 G>A	8	42294512	42294512	G	A	SLC20A2	c.1518C>T	NM_001257180.2	NP_001244109.1:p.(Asp506=)	NC_000008.10:g.42294512G>A	(Likely) benign	1 lab	a6179a7b29
1:235543365 TBCE A>G	1	235543365	235543365	A	G	TBCE	c.1A>G	NM_003193.5	NP_003184.1:p.(Met1?)	NC_000001.10:g.235543365A>G	VUS	1 lab	a61826883c
X:102864194 TCEAL3 AAGC>A	X	102864194	102864199	AAGC	A	TCEAL3	c.205_207del	NM_032926.3	NP_116315.1:p.(Gln69del)	NC_000023.10:g.102864197_102864199del	VUS	1 lab	a618b9e62a
9:134501605 RAPGEF1 G>A	9	134501605	134501605	G	A	RAPGEF1	c.1409C>T	NM_198679.1	NP_941372.1:p.(Thr470Met)	NC_000009.11:g.134501605G>A	(Likely) benign	1 lab	a618bd4c12
16:89346204 ANKRD11 C>T	16	89346204	89346204	C	T	ANKRD11	c.6746G>A	NM_001256182.1	NP_001243111.1:p.(Arg2249His)	NC_000016.9:g.89346204C>T	(Likely) benign	1 lab	a61a8fdacd
5:56111552 MAP3K1 G>C	5	56111552	56111552	G	C	MAP3K1	c.152G>C	NM_005921.1	NP_005912.1:p.(Gly51Ala)	NC_000005.9:g.56111552G>C	(Likely) pathogenic	1 lab	a61b966a09
16:2138163 TSC2 G>A	16	2138163	2138163	G	A	TSC2	c.5160+23G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138163G>A	(Likely) benign	1 lab	a61d194847
X:10174560 CLCN4 A>G	X	10174560	10174560	A	G	CLCN4	c.718A>G	NM_001830.3	NP_001821.2:p.(Ser240Gly)	NC_000023.10:g.10174560A>G	(Likely) benign	1 lab	a61df8a086
20:32399445 CHMP4B C>T	20	32399445	32399445	C	T	CHMP4B	c.171C>T	NM_176812.4	NP_789782.1:p.(His57=)	NC_000020.10:g.32399445C>T	(Likely) benign	1 lab	a6203925b6
6:80196768 LCA5 C>G	6	80196768	80196768	C	G	LCA5	c.2047G>C	NM_181714.3	NP_859065.2:p.(Ala683Pro)	NC_000006.11:g.80196768C>G	VUS	1 lab	a62042730e
14:20917442 OSGEP A>T	14	20917442	20917442	A	T	OSGEP	c.412-17T>A	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20917442A>T	(Likely) benign	1 lab	a62176e45e
X:53573429 HUWE1 C>T	X	53573429	53573429	C	T	HUWE1	c.10883G>A	NM_031407.6	NP_113584.3:p.(Arg3628His)	NC_000023.10:g.53573429C>T	VUS	1 lab	a62329fcc2
X:153608355 EMD G>A	X	153608355	153608355	G	A	EMD	c.241G>A	NM_000117.2	NP_000108.1:p.(Asp81Asn)	NC_000023.10:g.153608355G>A	(Likely) benign	1 lab	a624481772
1:155208422 GBA1 G>A	1	155208422	155208422	G	A	GBA1	c.474C>T	NM_000157.4	NP_000148.2:p.(Ile158=)	NC_000001.10:g.155208422G>A	(Likely) benign	1 lab	a62558d7f4
3:47040003 NBEAL2 C>T	3	47040003	47040003	C	T	NBEAL2	c.3169C>T	NM_015175.2	NP_055990.1:p.(Arg1057Trp)	NC_000003.11:g.47040003C>T	VUS	1 lab	a62667aea2
14:81952701 SEL1L T>C	14	81952701	81952701	T	C	SEL1L	c.1730A>G	NM_005065.5	NP_005056.3:p.(Gln577Arg)	NC_000014.8:g.81952701T>C	VUS	1 lab	a627f82ad9
9:5126342 JAK2 C>T	9	5126342	5126342	C	T	JAK2	c.3187C>T	NM_004972.3	NP_004963.1:p.(Arg1063Cys)	NC_000009.11:g.5126342C>T	VUS	1 lab	a62848e760
2:122288460 RNU4ATAC A>G	2	122288460	122288460	A	G	RNU4ATAC	n.5A>G	NR_023343.1		NC_000002.11:g.122288460A>G	VUS	1 lab	a62a7c16de
9:97873533 FANCC G>A	9	97873533	97873533	G	A	FANCC	c.1424C>T	NM_001243744.1	NP_001230673.1:p.(Thr475Met)	NC_000009.11:g.97873533G>A	(Likely) benign	1 lab	a62a7de491
8:145634492 CPSF1 G>T	8	145634492	145634492	G	T	CPSF1	c.51C>A	NM_013291.3	NP_037423.2:p.(Ser17=)	NC_000008.10:g.145634492G>T	(Likely) benign	1 lab	a62ab8c91a
X:64138984 ZC4H2 C>G	X	64138984	64138984	C	G	ZC4H2	c.430G>C	NM_001178032.2	NP_001171503.1:p.(Val144Leu)	NC_000023.10:g.64138984C>G	VUS	1 lab	a62af7817e
1:215914797 USH2A T>G	1	215914797	215914797	T	G	USH2A	c.11631A>C	NM_206933.2	NP_996816.2:p.(Ala3877=)	NC_000001.10:g.215914797T>G	(Likely) benign	1 lab	a62c369e3e
17:10315984 MYH8 G>T	17	10315984	10315984	G	T	MYH8	c.1209C>A	NM_002472.2	NP_002463.2:p.(Cys403Ter)	NC_000017.10:g.10315984G>T	VUS	1 lab	a62c41a5e8
16:50826564 CYLD TA>T	16	50826564	50826571	TA	T	CYLD	c.2305del	NM_001378743.1	NP_001365672.1:p.(Ile769PhefsTer7)	NC_000016.9:g.50826571del	(Likely) pathogenic	1 lab	a62c9ae03b
9:132576259 TOR1A C>T	9	132576259	132576259	C	T	TOR1A	c.991G>A	NM_000113.2	NP_000104.1:p.(Asp331Asn)	NC_000009.11:g.132576259C>T	(Likely) benign	1 lab	a62d8f7369
15:42979571 STARD9 A>G	15	42979571	42979571	A	G	STARD9	c.5795A>G	NM_020759.3	NP_065810.2:p.(Asn1932Ser)	NC_000015.9:g.42979571A>G	(Likely) benign	1 lab	a62df4d90a
8:143957185 CYP11B1 G>A	8	143957185	143957185	G	A	CYP11B1	c.1064C>T	NM_000497.3	NP_000488.3:p.(Pro355Leu)	NC_000008.10:g.143957185G>A	(Likely) benign	1 lab	a62e8c08da
13:48562769 SUCLA2 T>C	13	48562769	48562769	T	C	SUCLA2	c.441A>G	NM_003850.2	NP_003841.1:p.(Glu147=)	NC_000013.10:g.48562769T>C	(Likely) benign	1 lab	a62e92ec81
16:3781770 CREBBP C>G	16	3781770	3781770	C	G	CREBBP	c.4890+7G>C	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3781770C>G	(Likely) benign	1 lab	a62eb3b5f6
14:24711207 TINF2 G>C	14	24711207	24711207	G	C	TINF2	c.193-7C>G	NM_012461.2	NP_036593.2:p.?	NC_000014.8:g.24711207G>C	(Likely) benign	1 lab	a6308b2010
7:142459626 PRSS1 C>T	7	142459626	142459626	C	T	PRSS1	c.202C>T	NM_002769.4	NP_002760.1:p.(Arg68Cys)	NC_000007.13:g.142459626C>T	(Likely) benign	1 lab	a632d2c171
5:67586560 PIK3R1 T>A	5	67586560	67586560	T	A	PIK3R1	c.4T>A	NM_181504.3	NP_852556.2:p.(Tyr2Asn)	NC_000005.9:g.67586560T>A	VUS	1 lab	a634026e13
15:79220046 CTSH G>A	15	79220046	79220046	G	A	CTSH	c.297+9C>T	NM_001319137.1	NP_001306066.1:p.?	NC_000015.9:g.79220046G>A	(Likely) benign	1 lab	a6340c60cd
14:105414869 AHNAK2 C>G	14	105414869	105414869	C	G	AHNAK2	c.6919G>C	NM_138420.3	NP_612429.2:p.(Ala2307Pro)	NC_000014.8:g.105414869C>G	(Likely) benign	1 lab	a63465d937
1:11082441 TARDBP C>T	1	11082441	11082441	C	T	TARDBP	c.975C>T	NM_007375.3	NP_031401.1:p.(Ala325=)	NC_000001.10:g.11082441C>T	(Likely) benign	1 lab	a635a9574b
3:4699957 ITPR1 C>A	3	4699957	4699957	C	A	ITPR1	c.1101C>A	NM_001168272.1	NP_001161744.1:p.(Val367=)	NC_000003.11:g.4699957C>A	(Likely) benign	1 lab	a63694e5d9
3:25777594 NGLY1 C>T	3	25777594	25777594	C	T	NGLY1	c.1050G>A	NM_018297.4	NP_060767.2:p.(Leu350=)	NC_000003.11:g.25777594C>T	(Likely) benign	1 lab	a63695b119
5:14316747 TRIO C>T	5	14316747	14316747	C	T	TRIO	c.1626C>T	NM_007118.3	NP_009049.2:p.(His542=)	NC_000005.9:g.14316747C>T	(Likely) benign	1 lab	a6369ee175
6:44272485 AARS2 C>G	6	44272485	44272485	C	G	AARS2	c.1649G>C	NM_020745.3	NP_065796.1:p.(Gly550Ala)	NC_000006.11:g.44272485C>G	(Likely) benign	1 lab	a636ef5878
1:227152978 COQ8A C>A	1	227152978	227152978	C	A	COQ8A	c.455C>A	NM_020247.4	NP_064632.2:p.(Ser152Ter)	NC_000001.10:g.227152978C>A	(Likely) pathogenic	1 lab	a637856e49
X:47069491 UBA1 G>A	X	47069491	47069491	G	A	UBA1	c.2168G>A	NM_003334.4	NP_003325.2:p.(Arg723Gln)	NC_000023.10:g.47069491G>A	VUS	1 lab	a63927ebad
4:169589341 PALLD A>T	4	169589341	169589341	A	T	PALLD	c.909A>T	NM_001166108.2	NP_001159580.1:p.(Arg303Ser)	NC_000004.11:g.169589341A>T	VUS	1 lab	a63a1d90fa
13:20796930 GJB6 AT>A	13	20796930	20796937	AT	A	GJB6	c.689del	NM_001110219.3	NP_001103689.1:p.(Asn230IlefsTer7)	NC_000013.10:g.20796937del	(Likely) pathogenic	1 lab	a63abcaf91
15:23890071 MAGEL2 G>C	15	23890071	23890071	G	C	MAGEL2	c.2819C>G	NM_019066.4	NP_061939.3:p.(Pro940Arg)	NC_000015.9:g.23890071G>C	VUS	1 lab	a63b71d52f
5:131972872 RAD50 G>A	5	131972872	131972872	G	A	RAD50	c.3455G>A	NM_005732.3	NP_005723.2:p.(Arg1152Gln)	NC_000005.9:g.131972872G>A	VUS	1 lab	a63c6837b0
16:89921043 SPIRE2 A>G	16	89921043	89921043	A	G	SPIRE2	c.875A>G	NM_032451.2	NP_115827.1:p.(Lys292Arg)	NC_000016.9:g.89921043A>G	VUS	1 lab	a63d3955ae
1:43212896 P3H1 G>C	1	43212896	43212896	G	C	P3H1	c.2102C>G	NM_001243246.1	NP_001230175.1:p.(Pro701Arg)	NC_000001.10:g.43212896G>C	(Likely) benign	1 lab	a63d426a62
16:70843794 HYDIN T>G	16	70843794	70843794	T	G	HYDIN	c.14775A>C	NM_001270974.2	NP_001257903.1:p.(Pro4925=)	NC_000016.9:g.70843794T>G	(Likely) benign	1 lab	a63df4aa72
11:62549602 TAF6L T>C	11	62549602	62549602	T	C	TAF6L	c.624T>C	NM_006473.4	NP_006464.1:p.(His208=)	NC_000011.9:g.62549602T>C	(Likely) benign	1 lab	a63e4f460a
19:57133330 ZNF71 G>C	19	57133330	57133330	G	C	ZNF71	c.675G>C	NM_021216.4	NP_067039.1:p.(Lys225Asn)	NC_000019.9:g.57133330G>C	VUS	1 lab	a63e5e9f84
1:19215877 ALDH4A1 C>T	1	19215877	19215877	C	T	ALDH4A1	c.48G>A	NM_001161504.1	NP_001154976.1:p.(Ser16=)	NC_000001.10:g.19215877C>T	(Likely) benign	1 lab	a63ea03e8e
17:79495897 FSCN2 A>G	17	79495897	79495897	A	G	FSCN2	c.340A>G	NM_001077182.2	NP_001070650.1:p.(Thr114Ala)	NC_000017.10:g.79495897A>G	(Likely) benign	1 lab	a63ed0a051
15:66995663 SMAD6 G>T	15	66995663	66995663	G	T	SMAD6	c.67G>T	NM_005585.4	NP_005576.3:p.(Glu23Ter)	NC_000015.9:g.66995663G>T	(Likely) pathogenic	1 lab	a640d9dd0e
X:21761935 SMPX A>G	X	21761935	21761935	A	G	SMPX	c.65T>C	NM_014332.3	NP_055147.1:p.(Met22Thr)	NC_000023.10:g.21761935A>G	VUS	1 lab	a64279f6d5
10:96342748 HELLS C>G	10	96342748	96342748	C	G	HELLS	c.1258C>G	NM_001289067.1	NP_001275996.1:p.(Leu420Val)	NC_000010.10:g.96342748C>G	(Likely) benign	1 lab	a645458462
X:123517936 TENM1 G>T	X	123517936	123517936	G	T	TENM1	c.6845C>A	NM_001163278.1	NP_001156750.1:p.(Thr2282Asn)	NC_000023.10:g.123517936G>T	(Likely) benign	1 lab	a6454f3e94
1:152280545 FLG C>T	1	152280545	152280545	C	T	FLG	c.6817G>A	NM_002016.1	NP_002007.1:p.(Glu2273Lys)	NC_000001.10:g.152280545C>T	VUS	1 lab	a64572a1dd
1:981207 AGRN T>C	1	981207	981207	T	C	AGRN				NC_000001.10:g.981207T>C	(Likely) benign	1 lab	a645b3f5cb
X:17710501 NHS C>G	X	17710501	17710501	C	G	NHS	c.765C>G	NM_001291867.1	NP_001278796.1:p.(Pro255=)	NC_000023.10:g.17710501C>G	(Likely) benign	1 lab	a647ba8bb4
15:100252709 MEF2A C>CCAGCAG	15	100252709	100252743	C	CCAGCAG	MEF2A	c.1256_1261dup	NM_001352615.1	NP_001339544.1:p.(Gln419_Gln420dup)	NC_000015.9:g.100252738_100252743dup	(Likely) benign	1 lab	a649d4688a
3:148930285 CP G>T	3	148930285	148930285	G	T	CP	c.347C>A	NM_000096.3	NP_000087.1:p.(Pro116His)	NC_000003.11:g.148930285G>T	(Likely) benign	1 lab	a64a47d7a5
15:101447478 ALDH1A3 G>C	15	101447478	101447478	G	C	ALDH1A3	c.1386G>C	NM_000693.3	NP_000684.2:p.(Thr462=)	NC_000015.9:g.101447478G>C	(Likely) benign	1 lab	a64be1576e
9:2077620 SMARCA2 C>T	9	2077620	2077620	C	T	SMARCA2	c.2037-9C>T	NM_003070.4	NP_003061.3:p.?	NC_000009.11:g.2077620C>T	(Likely) benign	1 lab	a64dd71902
X:3227865 MXRA5 T>A	X	3227865	3227865	T	A	MXRA5	c.8379A>T	NM_015419.3	NP_056234.2:p.(Gly2793=)	NC_000023.10:g.3227865T>A	(Likely) benign	1 lab	a64e03266e
8:145169551 WDR97 A>G	8	145169551	145169551	A	G	WDR97	c.3887A>G	NM_001316309.1	NP_001303238.1:p.(Tyr1296Cys)	NC_000008.10:g.145169551A>G	VUS	1 lab	a64e6576db
1:19568973 EMC1 C>G	1	19568973	19568973	C	G	EMC1	c.381-6G>C	NM_015047.2	NP_055862.1:p.?	NC_000001.10:g.19568973C>G	(Likely) benign	1 lab	a64efdde33
15:23891711 MAGEL2 C>T	15	23891711	23891711	C	T	MAGEL2	c.1179G>A	NM_019066.4	NP_061939.3:p.(Gln393=)	NC_000015.9:g.23891711C>T	(Likely) benign	1 lab	a650ad365e
6:24850072 RIPOR2 T>C	6	24850072	24850072	T	C	RIPOR2	c.905A>G	NM_014722.4	NP_055537.2:p.(Asn302Ser)	NC_000006.11:g.24850072T>C	VUS	1 lab	a650ee6211
16:1270167 CACNA1H G>A	16	1270167	1270167	G	A	CACNA1H	c.6235G>A	NM_021098.2	NP_066921.2:p.(Val2079Ile)	NC_000016.9:g.1270167G>A	(Likely) benign	1 lab	a652da144e
13:52544722 ATP7B T>C	13	52544722	52544722	T	C	ATP7B	c.1449A>G	NM_000053.3	NP_000044.2:p.(Arg483=)	NC_000013.10:g.52544722T>C	(Likely) benign	1 lab	a65537ade5
5:41172453 C6 G>A	5	41172453	41172453	G	A	C6	c.1169-4C>T	NM_001115131.2	NP_001108603.2:p.?	NC_000005.9:g.41172453G>A	(Likely) benign	1 lab	a657877805
7:99703850 AP4M1 C>T	7	99703850	99703850	C	T	AP4M1	c.975-14C>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99703850C>T	(Likely) benign	1 lab	a6581db392
X:24024613 KLHL15 T>C	X	24024613	24024613	T	C	KLHL15	c.198A>G	NM_030624.2	NP_085127.2:p.(Glu66=)	NC_000023.10:g.24024613T>C	(Likely) benign	1 lab	a6586c85c7
9:137619115 COL5A1 G>A	9	137619115	137619115	G	A	COL5A1	c.658G>A	NM_000093.4	NP_000084.3:p.(Asp220Asn)	NC_000009.11:g.137619115G>A	VUS	1 lab	a659b96231
21:46876580 COL18A1 C>G	21	46876580	46876580	C	G	COL18A1	c.1136C>G	NM_130444.3	NP_569711.2:p.(Thr379Arg)	NC_000021.8:g.46876580C>G	(Likely) benign	1 lab	a65a53f414
4:73990763 ANKRD17 A>C	4	73990763	73990763	A	C	ANKRD17	c.3359T>G	NM_032217.4	NP_115593.3:p.(Leu1120Arg)	NC_000004.11:g.73990763A>C	VUS	1 lab	a65e0176dc
17:29653267 NF1 TA>T	17	29653267	29653270	TA	T	NF1	c.5268del	NM_001042492.3	NP_001035957.1:p.(Val1757LeufsTer8)	NC_000017.10:g.29653270del	(Likely) pathogenic	1 lab	a65ea30427
6:112437161 LAMA4 C>T	6	112437161	112437161	C	T	LAMA4	c.5017G>A	NM_001105206.2	NP_001098676.2:p.(Ala1673Thr)	NC_000006.11:g.112437161C>T	VUS	1 lab	a65f2529f1
10:102743776 SEMA4G G>A	10	102743776	102743776	G	A	SEMA4G	c.2420G>A	NM_017893.3	NP_060363.2:p.(Ser807Asn)	NC_000010.10:g.102743776G>A	(Likely) benign	1 lab	a65f7789b3
20:62326267 RTEL1 G>A	20	62326267	62326267	G	A	RTEL1	c.3283G>A	NM_001283009.1	NP_001269938.1:p.(Val1095Met)	NC_000020.10:g.62326267G>A	(Likely) benign	1 lab	a65faf2c00
1:10596336 PEX14 G>A	1	10596336	10596336	G	A	PEX14	c.151G>A	NM_004565.2	NP_004556.1:p.(Ala51Thr)	NC_000001.10:g.10596336G>A	(Likely) benign	1 lab	a6601f6798
1:43212415 P3H1 G>T	1	43212415	43212415	G	T	P3H1	c.2164C>A	NM_022356.3	NP_071751.3:p.(Gln722Lys)	NC_000001.10:g.43212415G>T	(Likely) benign	1 lab	a660ef5874
11:6655176 DCHS1 G>A	11	6655176	6655176	G	A	DCHS1				NC_000011.9:g.6655176G>A	(Likely) benign	1 lab	a660f80770
X:67518889 OPHN1 C>A	X	67518889	67518889	C	A	OPHN1	c.204G>T	NM_002547.2	NP_002538.1:p.(Gln68His)	NC_000023.10:g.67518889C>A	VUS	1 lab	a6619063bc
19:36216451 KMT2B C>G	19	36216451	36216451	C	G	KMT2B	c.3714C>G	NM_014727.2	NP_055542.1:p.(Pro1238=)	NC_000019.9:g.36216451C>G	(Likely) benign	1 lab	a6619cdfc7
3:189705451 P3H2 C>T	3	189705451	189705451	C	T	P3H2	c.963G>A	NM_018192.4	NP_060662.2:p.(Glu321=)	NC_000003.11:g.189705451C>T	(Likely) benign	1 lab	a661afc8b2
6:86282026 SNX14 T>C	6	86282026	86282026	T	C	SNX14	c.391A>G	NM_001350532.1	NP_001337461.1:p.(Lys131Glu)	NC_000006.11:g.86282026T>C	(Likely) benign	1 lab	a662f947ca
4:3526782 LRPAP1 C>T	4	3526782	3526782	C	T	LRPAP1	c.205-4G>A	NM_002337.4	NP_002328.1:p.?	NC_000004.11:g.3526782C>T	(Likely) benign	1 lab	a663ddc9cb
5:40972664 C7 C>G	5	40972664	40972664	C	G	C7	c.2042C>G	NM_000587.2	NP_000578.2:p.(Pro681Arg)	NC_000005.9:g.40972664C>G	VUS	1 lab	a6648b799a
11:8122511 TUB G>A	11	8122511	8122511	G	A	TUB	c.1519G>A	NM_003320.4	NP_003311.2:p.(Val507Met)	NC_000011.9:g.8122511G>A	VUS	1 lab	c8fc47aadd
19:3590105 GIPC3 G>A	19	3590105	3590105	G	A	GIPC3	c.856G>A	NM_133261.2	NP_573568.1:p.(Val286Ile)	NC_000019.9:g.3590105G>A	(Likely) benign	1 lab	a6649c7e76
2:179411219 TTN T>C	2	179411219	179411219	T	C	TTN	c.94839A>G	NM_001267550.1	NP_001254479.1:p.(Lys31613=)	NC_000002.11:g.179411219T>C	(Likely) benign	1 lab	a6650775c8
1:160109479 ATP1A2 T>C	1	160109479	160109479	T	C	ATP1A2				NC_000001.10:g.160109479T>C	VUS	1 lab	a666927a5b
19:18995086 GDF1 G>A	19	18995086	18995086	G	A	GDF1	c.-913-10C>T	NM_001492.5	NP_001483.3:p.?	NC_000019.9:g.18995086G>A	(Likely) benign	1 lab	a666adf7f1
19:6711070 C3 C>A	19	6711070	6711070	C	A	C3	c.1407G>T	NM_000064.2	NP_000055.2:p.(Glu469Asp)	NC_000019.9:g.6711070C>A	(Likely) benign	1 lab	a6672f3c64
16:90001852 TUBB3 G>A	16	90001852	90001852	G	A	TUBB3	c.777G>A	NM_001197181.1	NP_001184110.1:p.(Leu259=)	NC_000016.9:g.90001852G>A	(Likely) benign	1 lab	a667bbab22
18:12377000 AFG3L2 C>T	18	12377000	12377000	C	T	AFG3L2	c.82G>A	NM_006796.2	NP_006787.2:p.(Val28Met)	NC_000018.9:g.12377000C>T	(Likely) benign	1 lab	a6686ec0fc
2:145156207 ZEB2 A>C	2	145156207	145156207	A	C	ZEB2	c.2547T>G	NM_014795.3	NP_055610.1:p.(Val849=)	NC_000002.11:g.145156207A>C	(Likely) benign	1 lab	a6697fb4eb
2:112704966 MERTK C>T	2	112704966	112704966	C	T	MERTK	c.584-5C>T	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112704966C>T	(Likely) benign	1 lab	3b380da529
11:103043987 DYNC2H1 C>T	11	103043987	103043987	C	T	DYNC2H1	c.5511C>T	NM_001080463.1	NP_001073932.1:p.(Asp1837=)	NC_000011.9:g.103043987C>T	(Likely) benign	1 lab	a66ad63582
18:43505701 EPG5 T>C	18	43505701	43505701	T	C	EPG5	c.2718+3A>G	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43505701T>C	VUS	1 lab	a66cf4bf6a
10:73767206 CHST3 C>T	10	73767206	73767206	C	T	CHST3	c.417C>T	NM_004273.4	NP_004264.2:p.(Ala139=)	NC_000010.10:g.73767206C>T	(Likely) benign	1 lab	a66e73b52d
3:15686970 BTD A>C	3	15686970	15686970	A	C	BTD	c.1607A>C	NM_000060.4	NP_000051.1:p.(Tyr536Ser)	NC_000003.11:g.15686970A>C	VUS	1 lab	a66e99244a
10:735510 DIP2C G>A	10	735510	735510	G	A	DIP2C	c.9C>T	NM_014974.3	NP_055789.1:p.(Asp3=)	NC_000010.10:g.735510G>A	(Likely) benign	1 lab	d628583bde
17:79974914 ASPSCR1 CCT>C	17	79974914	79974916	CCT	C	ASPSCR1	c.1574_1575del	NM_024083.4	NP_076988.1:p.(Pro525ArgfsTer51)	NC_000017.10:g.79974915_79974916del	VUS	1 lab	a67052d146
14:105405201 AHNAK2 G>A	14	105405201	105405201	G	A	AHNAK2	c.16587C>T	NM_138420.3	NP_612429.2:p.(His5529=)	NC_000014.8:g.105405201G>A	(Likely) benign	1 lab	a670ffa52b
22:38120244 TRIOBP G>A	22	38120244	38120244	G	A	TRIOBP	c.1681G>A	NM_001039141.2	NP_001034230.1:p.(Ala561Thr)	NC_000022.10:g.38120244G>A	VUS	1 lab	a671e1df4d
6:170176154 ERMARD A>G	6	170176154	170176154	A	G	ERMARD	c.1513A>G	NM_018341.2	NP_060811.1:p.(Thr505Ala)	NC_000006.11:g.170176154A>G	(Likely) benign	1 lab	a672105844
3:46003831 FYCO1 T>C	3	46003831	46003831	T	C	FYCO1	c.3323A>G	NM_024513.3	NP_078789.2:p.(Lys1108Arg)	NC_000003.11:g.46003831T>C	(Likely) benign	1 lab	a672bf74c4
3:189706798 P3H2 G>A	3	189706798	189706798	G	A	P3H2	c.853C>T	NM_018192.4	NP_060662.2:p.(His285Tyr)	NC_000003.11:g.189706798G>A	VUS	1 lab	a6743fb254
17:29664885 NF1 G>GA	17	29664885	29664887	G	GA	NF1	c.6630dup	NM_000267.3	NP_000258.1:p.(Leu2211ThrfsTer10)	NC_000017.10:g.29664887dup	(Likely) pathogenic	1 lab	a674b1b879
22:38130894 TRIOBP G>A	22	38130894	38130894	G	A	TRIOBP	c.4551G>A	NM_001039141.2	NP_001034230.1:p.(Glu1517=)	NC_000022.10:g.38130894G>A	(Likely) benign	1 lab	a676ffeadf
17:26084286 NOS2 T>C	17	26084286	26084286	T	C	NOS2	c.3448A>G	NM_000625.4	NP_000616.3:p.(Met1150Val)	NC_000017.10:g.26084286T>C	(Likely) benign	1 lab	a6780e6a57
12:122064779 ORAI1 ACCGC>GCCG	12	122064779	122064783	ACCGC	GCCG	ORAI1	c.131_132insGCCGC	NM_032790.3	NP_116179.2:p.(Pro46HisfsTer20)	NC_000012.11:g.122064779_122064783delinsGCCG	(Likely) benign	1 lab	a6787a6edb
X:68382657 PJA1 T>A	X	68382657	68382657	T	A	PJA1	c.425A>T	NM_145119.3	NP_660095.1:p.(Lys142Ile)	NC_000023.10:g.68382657T>A	VUS	1 lab	a6799649f8
2:220434971 OBSL1 C>A	2	220434971	220434971	C	A	OBSL1	c.984G>T	NM_015311.2	NP_056126.1:p.(Thr328=)	NC_000002.11:g.220434971C>A	(Likely) benign	1 lab	a67add69ce
11:119216170 MFRP G>A	11	119216170	119216170	G	A	MFRP	c.601C>T	NM_031433.3	NP_113621.1:p.(Arg201Cys)	NC_000011.9:g.119216170G>A	VUS	1 lab	a67aeb05e6
22:36695066 MYH9 C>G	22	36695066	36695066	C	G	MYH9	c.2999G>C	NM_002473.5	NP_002464.1:p.(Arg1000Thr)	NC_000022.10:g.36695066C>G	VUS	1 lab	a67aec3aa9
16:3707796 DNASE1 C>A	16	3707796	3707796	C	A	DNASE1	c.780C>A	NM_005223.3	NP_005214.2:p.(Ala260=)	NC_000016.9:g.3707796C>A	(Likely) benign	1 lab	a67bbcdc12
21:44283597 WDR4 C>T	21	44283597	44283597	C	T	WDR4	c.406G>A	NM_018669.5	NP_061139.2:p.(Gly136Arg)	NC_000021.8:g.44283597C>T	(Likely) benign	1 lab	a67be3eeda
4:996224 IDUA G>C	4	996224	996224	G	C	IDUA	c.744G>C	NM_001363576.1	NP_001350505.1:p.(Gln248His)	NC_000004.11:g.996224G>C	(Likely) benign	1 lab	a67bf24bc5
X:24382524 SUPT20HL1 C>CGCTGCTCCTGCTGTAGCT	X	24382524	24382555	C	CGCTGCTCCTGCTGTAGCT	SUPT20HL1	c.1739_1756dup	NM_001136234.2	NP_001129706.2:p.(Val580_Ala585dup)	NC_000023.10:g.24382538_24382555dup	VUS	1 lab	a67d6291fa
X:13680619 TCEANC G>A	X	13680619	13680619	G	A	TCEANC	c.-8-1G>A	NM_001297563.1	NP_001284492.1:p.?	NC_000023.10:g.13680619G>A	VUS	1 lab	a67ef41353
5:126781368 MEGF10 C>A	5	126781368	126781368	C	A	MEGF10	c.2711C>A	NM_032446.2	NP_115822.1:p.(Ala904Glu)	NC_000005.9:g.126781368C>A	VUS	1 lab	a67f51355b
22:38121861 TRIOBP T>C	22	38121861	38121861	T	C	TRIOBP	c.3298T>C	NM_001039141.2	NP_001034230.1:p.(Ser1100Pro)	NC_000022.10:g.38121861T>C	VUS	1 lab	a67fb22175
17:30981496 MYO1D G>A	17	30981496	30981496	G	A	MYO1D	c.2489C>T	NM_015194.3	NP_056009.1:p.(Ser830Leu)	NC_000017.10:g.30981496G>A	VUS	1 lab	a680018743
X:55103023 PAGE2B A>G	X	55103023	55103023	A	G	PAGE2B	c.106A>G	NM_001015038.2	NP_001015038.1:p.(Lys36Glu)	NC_000023.10:g.55103023A>G	(Likely) benign	1 lab	a680f7996b
5:73169002 ARHGEF28 G>A	5	73169002	73169002	G	A	ARHGEF28	c.2745G>A	NM_001080479.2	NP_001073948.2:p.(Arg915=)	NC_000005.9:g.73169002G>A	(Likely) benign	1 lab	a682182a64
13:39425887 FREM2 G>A	13	39425887	39425887	G	A	FREM2	c.6807G>A	NM_207361.5	NP_997244.4:p.(Ser2269=)	NC_000013.10:g.39425887G>A	(Likely) benign	1 lab	a68228fc8b
2:179606636 TTN G>A	2	179606636	179606636	G	A	TTN	c.11324C>T	NM_001267550.1	NP_001254479.1:p.(Ser3775Phe)	NC_000002.11:g.179606636G>A	VUS	1 lab	a682bd9697
6:17799550 KIF13A G>A	6	17799550	17799550	G	A	KIF13A	c.2737C>T	NM_001105568.2	NP_001099038.1:p.(Pro913Ser)	NC_000006.11:g.17799550G>A	VUS	1 lab	a6830aae99
8:107752649 OXR1 T>A	8	107752649	107752649	T	A	OXR1	c.2242T>A	NM_001198533.1	NP_001185462.1:p.(Leu748Met)	NC_000008.10:g.107752649T>A	VUS	1 lab	a683db71d5
9:139911023 ABCA2 C>T	9	139911023	139911023	C	T	ABCA2	c.3013+3G>A	NM_212533.2	NP_997698.1:p.?	NC_000009.11:g.139911023C>T	(Likely) benign	1 lab	a688a9461a
1:228553245 OBSCN C>T	1	228553245	228553245	C	T	OBSCN	c.21918C>T	NM_001271223.2	NP_001258152.2:p.(Ile7306=)	NC_000001.10:g.228553245C>T	(Likely) benign	1 lab	a688dac4f4
12:81013986 MISSING A>T	12	81013986	81013986	A	T	MISSING				NC_000012.11:g.81013986A>T	VUS	1 lab	a6892d8af6
X:153577927 FLNA C>T	X	153577927	153577927	C	T	FLNA	c.7559G>A	NM_001110556.2	NP_001104026.1:p.(Arg2520His)	NC_000023.10:g.153577927C>T	VUS	1 lab	a68b209914
21:47565371 FTCD G>T	21	47565371	47565371	G	T	FTCD	c.1220C>A	NM_001320412.1	NP_001307341.1:p.(Thr407Lys)	NC_000021.8:g.47565371G>T	(Likely) benign	1 lab	a68b3dab27
16:69951622 WWP2 C>T	16	69951622	69951622	C	T	WWP2	c.1015C>T	NM_007014.4	NP_008945.2:p.(Arg339Cys)	NC_000016.9:g.69951622C>T	VUS	1 lab	a68bbd9bbe
2:1648408 PXDN C>T	2	1648408	1648408	C	T	PXDN	c.3725G>A	NM_012293.2	NP_036425.1:p.(Arg1242His)	NC_000002.11:g.1648408C>T	VUS	1 lab	a68cc22eba
X:9733745 GPR143 C>G	X	9733745	9733745	C	G	GPR143	c.113G>C	NM_000273.2	NP_000264.2:p.(Gly38Ala)	NC_000023.10:g.9733745C>G	(Likely) benign	1 lab	a68d85d3ae
2:202074029 CASP10 C>G	2	202074029	202074029	C	G	CASP10	c.1159C>G	NM_032977.3	NP_116759.2:p.(Pro387Ala)	NC_000002.11:g.202074029C>G	(Likely) benign	1 lab	a690d6aa31
13:84454554 SLITRK1 G>A	13	84454554	84454554	G	A	SLITRK1	c.1089C>T	NM_052910.2	NP_443142.1:p.(Asn363=)	NC_000013.10:g.84454554G>A	(Likely) benign	1 lab	a691c637ed
17:29554626 NF1 T>G	17	29554626	29554626	T	G	NF1	c.2409+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554626T>G	(Likely) pathogenic	1 lab	a692d1e586
14:97319259 VRK1 C>A	14	97319259	97319259	C	A	VRK1	c.466C>A	NM_003384.2	NP_003375.1:p.(Gln156Lys)	NC_000014.8:g.97319259C>A	VUS	1 lab	a692f2b514
5:1403041 SLC6A3 C>T	5	1403041	1403041	C	T	SLC6A3	c.1763G>A	NM_001044.4	NP_001035.1:p.(Arg588Gln)	NC_000005.9:g.1403041C>T	(Likely) benign	1 lab	a692f92588
3:129303006 PLXND1 G>A	3	129303006	129303006	G	A	PLXND1	c.2100C>T	NM_015103.2	NP_055918.2:p.(Tyr700=)	NC_000003.11:g.129303006G>A	(Likely) benign	1 lab	a693095336
8:11995063 USP17L2 C>T	8	11995063	11995063	C	T	USP17L2	c.1207G>A	NM_201402.2	NP_958804.2:p.(Ala403Thr)	NC_000008.10:g.11995063C>T	(Likely) benign	1 lab	a693c10143
6:152647165 SYNE1 C>A	6	152647165	152647165	C	A	SYNE1	c.15366G>T	NM_182961.3	NP_892006.3:p.(Lys5122Asn)	NC_000006.11:g.152647165C>A	VUS	1 lab	a69711c762
10:67862949 CTNNA3 T>G	10	67862949	67862949	T	G	CTNNA3	c.1943A>C	NM_013266.3	NP_037398.2:p.(His648Pro)	NC_000010.10:g.67862949T>G	VUS	1 lab	a697b7062d
7:117176568 CFTR AGATT>A	7	117176568	117176596	AGATT	A	CFTR	c.744-9_744-6del	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117176593_117176596del	(Likely) benign	1 lab	a6987cc08e
X:16189323 MAGEB17 G>A	X	16189323	16189323	G	A	MAGEB17	c.818G>A	NM_001277307.1	NP_001264236.1:p.(Trp273Ter)	NC_000023.10:g.16189323G>A	VUS	1 lab	a69bf04b03
6:117724380 ROS1 G>A	6	117724380	117724380	G	A	ROS1	c.499C>T	NM_002944.2	NP_002935.2:p.(Arg167Ter)	NC_000006.11:g.117724380G>A	VUS	1 lab	a69dbfde3e
14:74975387 LTBP2 T>G	14	74975387	74975387	T	G	LTBP2	c.3572A>C	NM_000428.2	NP_000419.1:p.(Glu1191Ala)	NC_000014.8:g.74975387T>G	VUS	1 lab	a69efc83fd
5:145499948 LARS1 T>C	5	145499948	145499948	T	C	LARS1	c.3311A>G	NM_020117.10	NP_064502.9:p.(Asn1104Ser)	NC_000005.9:g.145499948T>C	(Likely) benign	1 lab	a6a5a1c1a2
2:179449134 TTN C>A	2	179449134	179449134	C	A	TTN	c.65144G>T	NM_001267550.1	NP_001254479.1:p.(Arg21715Leu)	NC_000002.11:g.179449134C>A	VUS	1 lab	a6a6d8249a
X:19650076 SH3KBP1 C>T	X	19650076	19650076	C	T	SH3KBP1	c.878G>A	NM_001353891.1	NP_001340820.1:p.(Ser293Asn)	NC_000023.10:g.19650076C>T	(Likely) benign	1 lab	a6ae3a32e7
15:44089361 SERINC4 C>T	15	44089361	44089361	C	T	SERINC4	c.826G>A	NM_001258031.1	NP_001244960.1:p.(Ala276Thr)	NC_000015.9:g.44089361C>T	(Likely) benign	1 lab	a6ae441ca4
17:29687571 NF1 C>G	17	29687571	29687571	C	G	NF1	c.8164C>G	NM_000267.3	NP_000258.1:p.(Leu2722Val)	NC_000017.10:g.29687571C>G	VUS	1 lab	a6aff1293f
19:13395956 CACNA1A TTCC>T	19	13395956	13395969	TTCC	T	CACNA1A	c.3615_3617del	NM_001127222.2	NP_001120694.1:p.(Glu1206del)	NC_000019.9:g.13395967_13395969del	VUS	1 lab	a6b0a0d4b6
4:3076681 HTT G>A	4	3076681	3076681	G	A	HTT	c.135G>A	NM_002111.8	NP_002102.4:p.(Pro45=)	NC_000004.11:g.3076681G>A	(Likely) benign	1 lab	a6b3b5df58
2:27601738 ZNF513 C>G	2	27601738	27601738	C	G	ZNF513	c.395G>C	NM_144631.5	NP_653232.3:p.(Cys132Ser)	NC_000002.11:g.27601738C>G	VUS	1 lab	a6b646c8e6
11:71819110 LRTOMT G>A	11	71819110	71819110	G	A	LRTOMT	c.500G>A	NM_001145309.3	NP_001138781.1:p.(Arg167His)	NC_000011.9:g.71819110G>A	VUS	1 lab	a6b6a59e64
1:198721906 PTPRC G>A	1	198721906	198721906	G	A	PTPRC	c.3509+5G>A	NM_002838.4	NP_002829.3:p.?	NC_000001.10:g.198721906G>A	VUS	1 lab	a6b8b38c84
11:1272026 MUC5B C>T	11	1272026	1272026	C	T	MUC5B	c.13916C>T	NM_002458.2	NP_002449.2:p.(Pro4639Leu)	NC_000011.9:g.1272026C>T	(Likely) benign	1 lab	a6b8f4a547
7:17379483 AHR AC>A	7	17379483	17379484	AC	A	AHR	c.2035del	NM_001621.5	NP_001612.1:p.(His679MetfsTer57)	NC_000007.13:g.17379484del	(Likely) pathogenic	1 lab	a6b919af43
15:28263707 OCA2 G>A	15	28263707	28263707	G	A	OCA2	c.647-4C>T	NM_000275.2	NP_000266.2:p.?	NC_000015.9:g.28263707G>A	(Likely) benign	1 lab	a6b948d246
5:127449926 SLC12A2 G>C	5	127449926	127449926	G	C	SLC12A2	c.899G>C	NM_001046.2	NP_001037.1:p.(Trp300Ser)	NC_000005.9:g.127449926G>C	VUS	1 lab	a6bad9b86a
1:103356031 COL11A1 A>G	1	103356031	103356031	A	G	COL11A1	c.4368T>C	NM_080629.2	NP_542196.2:p.(Gly1456=)	NC_000001.10:g.103356031A>G	(Likely) benign	1 lab	a6bdae3d22
X:22115126 PHEX C>T	X	22115126	22115126	C	T	PHEX	c.903C>T	NM_000444.5	NP_000435.3:p.(Asn301=)	NC_000023.10:g.22115126C>T	(Likely) benign	1 lab	a6c017398a
9:139418309 NOTCH1 C>T	9	139418309	139418309	C	T	NOTCH1	c.263G>A	NM_017617.5	NP_060087.3:p.(Ser88Asn)	NC_000009.11:g.139418309C>T	(Likely) benign	1 lab	a6c102d8ad
12:81064156 MISSING T>C	12	81064156	81064156	T	C	MISSING				NC_000012.11:g.81064156T>C	VUS	1 lab	a6c305e31d
6:49399562 MMUT T>A	6	49399562	49399562	T	A	MMUT	c.2132A>T	NM_000255.3	NP_000246.2:p.(Glu711Val)	NC_000006.11:g.49399562T>A	VUS	1 lab	a6c323598c
12:115110060 TBX3 C>A	12	115110060	115110060	C	A	TBX3	c.1818G>T	NM_016569.3	NP_057653.3:p.(Thr606=)	NC_000012.11:g.115110060C>A	(Likely) benign	1 lab	a6c632ca6e
11:67378936 NDUFV1 C>G	11	67378936	67378936	C	G	NDUFV1	c.976C>G	NM_007103.3	NP_009034.2:p.(Leu326Val)	NC_000011.9:g.67378936C>G	(Likely) benign	1 lab	a6c788922d
22:37334142 CSF2RB G>C	22	37334142	37334142	G	C	CSF2RB	c.2292G>C	NM_000395.2	NP_000386.1:p.(Glu764Asp)	NC_000022.10:g.37334142G>C	(Likely) benign	1 lab	a6c8f8ae21
20:10393743 MKKS G>A	20	10393743	10393743	G	A	MKKS	c.420C>T	NM_018848.3	NP_061336.1:p.(Ile140=)	NC_000020.10:g.10393743G>A	(Likely) benign	1 lab	a6ca3b03e1
17:43364390 MAP3K14 C>T	17	43364390	43364390	C	T	MAP3K14	c.559G>A	NM_003954.5	NP_003945.2:p.(Ala187Thr)	NC_000017.10:g.43364390C>T	(Likely) benign	1 lab	a6cc6dc7c8
17:57738860 CLTC AG>A	17	57738860	57738862	AG	A	CLTC	c.1226del	NM_004859.4	NP_004850.1:p.(Gly409ValfsTer25)	NC_000017.10:g.57738862del	(Likely) pathogenic	1 lab	a6ce80f961
11:34979062 PDHX G>A	11	34979062	34979062	G	A	PDHX	c.474G>A	NM_003477.2	NP_003468.2:p.(Glu158=)	NC_000011.9:g.34979062G>A	(Likely) benign	1 lab	a6ceca8c77
5:70808111 BDP1 A>G	5	70808111	70808111	A	G	BDP1	c.4103A>G	NM_018429.2	NP_060899.2:p.(Glu1368Gly)	NC_000005.9:g.70808111A>G	VUS	1 lab	a6cf1745d1
6:42141503 GUCA1A C>T	6	42141503	42141503	C	T	GUCA1A	c.152C>T	NM_001319061.1	NP_001305990.1:p.(Ser51Leu)	NC_000006.11:g.42141503C>T	VUS	1 lab	a6cf81379d
10:55582208 PCDH15 GAGGAGGAGAAGGAGGAGAAAT>G	10	55582208	55582237	GAGGAGGAGAAGGAGGAGAAAT	G	PCDH15	c.4368-2239_4368-2219del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55582217_55582237del	VUS	1 lab	a6d1dcc872
9:14775874 FREM1 G>C	9	14775874	14775874	G	C	FREM1	c.4770C>G	NM_144966.5	NP_659403.4:p.(Cys1590Trp)	NC_000009.11:g.14775874G>C	(Likely) benign	1 lab	a6d7242417
17:79495786 FSCN2 G>A	17	79495786	79495786	G	A	FSCN2	c.229G>A	NM_001077182.2	NP_001070650.1:p.(Val77Met)	NC_000017.10:g.79495786G>A	VUS	1 lab	a6d8e2b871
1:152280806 FLG A>G	1	152280806	152280806	A	G	FLG	c.6556T>C	NM_002016.1	NP_002007.1:p.(Ser2186Pro)	NC_000001.10:g.152280806A>G	(Likely) benign	1 lab	a6da59e463
20:47589741 ARFGEF2 A>G	20	47589741	47589741	A	G	ARFGEF2	c.1585A>G	NM_006420.2	NP_006411.2:p.(Ile529Val)	NC_000020.10:g.47589741A>G	VUS	1 lab	a6dacb4926
11:108126966 ATM C>T	11	108126966	108126966	C	T	ATM	c.2149C>T	NM_001351834.1	NP_001338763.1:p.(Arg717Trp)	NC_000011.9:g.108126966C>T	VUS	1 lab	a6db7267a0
11:65298213 SCYL1 C>T	11	65298213	65298213	C	T	SCYL1	c.963C>T	NM_020680.3	NP_065731.3:p.(Phe321=)	NC_000011.9:g.65298213C>T	(Likely) benign	1 lab	a6dd2a38e0
3:49170072 LAMB2 G>T	3	49170072	49170072	G	T	LAMB2	c.101C>A	NM_002292.3	NP_002283.3:p.(Ala34Asp)	NC_000003.11:g.49170072G>T	(Likely) benign	1 lab	a6de8006ba
14:68220784 ZFYVE26 G>A	14	68220784	68220784	G	A	ZFYVE26	c.7128+4C>T	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68220784G>A	(Likely) benign	1 lab	a6df2a0fb7
1:5924418 NPHP4 G>A	1	5924418	5924418	G	A	NPHP4	c.3976C>T	NM_015102.4	NP_055917.1:p.(Arg1326Cys)	NC_000001.10:g.5924418G>A	VUS	1 lab	a6e05f735e
9:34659849 IL11RA G>GGCACCTGGA	9	34659849	34659869	G	GGCACCTGGA	IL11RA	c.916_924dup	NM_001142784.2	NP_001136256.1:p.(Thr306_Ser308dup)	NC_000009.11:g.34659861_34659869dup	(Likely) pathogenic	1 lab	a6e29e613f
18:21487869 LAMA3 A>G	18	21487869	21487869	A	G	LAMA3	c.6985A>G	NM_198129.2	NP_937762.2:p.(Lys2329Glu)	NC_000018.9:g.21487869A>G	(Likely) benign	1 lab	a6e2de3dbe
17:2579838 PAFAH1B1 G>A	17	2579838	2579838	G	A	PAFAH1B1	c.940G>A	NM_000430.3	NP_000421.1:p.(Gly314Arg)	NC_000017.10:g.2579838G>A	VUS	1 lab	a6e3111269
8:10467578 RP1L1 TTTC>T	8	10467578	10467583	TTTC	T	RP1L1	c.4027_4029del	NM_178857.6	NP_849188.4:p.(Glu1343del)	NC_000008.10:g.10467581_10467583del	(Likely) benign	1 lab	a6e39c1cd8
1:236212037 NID1 C>T	1	236212037	236212037	C	T	NID1	c.478G>A	NM_002508.2	NP_002499.2:p.(Val160Met)	NC_000001.10:g.236212037C>T	(Likely) benign	1 lab	a6e3ea8154
10:104353781 SUFU C>T	10	104353781	104353781	C	T	SUFU	c.715C>T	NM_016169.3	NP_057253.2:p.(Arg239Trp)	NC_000010.10:g.104353781C>T	VUS	1 lab	a6e4a8a06d
15:77134138 SCAPER A>C	15	77134138	77134138	A	C	SCAPER	c.330T>G	NM_001353009.1	NP_001339938.1:p.(Leu110=)	NC_000015.9:g.77134138A>C	(Likely) benign	1 lab	a6e4d7a10d
7:141255321 AGK C>T	7	141255321	141255321	C	T	AGK	c.55C>T	NM_018238.4	NP_060708.1:p.(Leu19Phe)	NC_000007.13:g.141255321C>T	(Likely) benign	1 lab	a6e94626f4
19:41932448 B3GNT8 C>T	19	41932448	41932448	C	T	B3GNT8	c.236G>A	NM_198540.2	NP_940942.1:p.(Arg79Gln)	NC_000019.9:g.41932448C>T	(Likely) benign	1 lab	a6e951b04b
9:139391288 NOTCH1 G>A	9	139391288	139391288	G	A	NOTCH1	c.6903C>T	NM_017617.5	NP_060087.3:p.(Ser2301=)	NC_000009.11:g.139391288G>A	(Likely) benign	1 lab	a6e9a631a2
8:41561620 ANK1 C>T	8	41561620	41561620	C	T	ANK1	c.2333G>A	NM_001142446.1	NP_001135918.1:p.(Gly778Glu)	NC_000008.10:g.41561620C>T	VUS	1 lab	a6eaa254de
19:8669924 ADAMTS10 A>G	19	8669924	8669924	A	G	ADAMTS10	c.408T>C	NM_030957.3	NP_112219.3:p.(His136=)	NC_000019.9:g.8669924A>G	(Likely) benign	1 lab	a6eaffd962
14:50100463 DNAAF2 A>T	14	50100463	50100463	A	T	DNAAF2	c.1405T>A	NM_018139.2	NP_060609.2:p.(Cys469Ser)	NC_000014.8:g.50100463A>T	(Likely) benign	1 lab	a6ec2a3363
3:142268507 ATR T>C	3	142268507	142268507	T	C	ATR	c.2985A>G	NM_001184.3	NP_001175.2:p.(Leu995=)	NC_000003.11:g.142268507T>C	(Likely) benign	1 lab	a6ee6f721a
18:32392011 DTNA G>A	18	32392011	32392011	G	A	DTNA	c.537G>A	NM_001390.4	NP_001381.2:p.(Thr179=)	NC_000018.9:g.32392011G>A	(Likely) benign	1 lab	a6f0056163
1:152284597 FLG A>G	1	152284597	152284597	A	G	FLG	c.2765T>C	NM_002016.1	NP_002007.1:p.(Ile922Thr)	NC_000001.10:g.152284597A>G	(Likely) benign	1 lab	a6f195ee3d
5:89948255 ADGRV1 A>G	5	89948255	89948255	A	G	ADGRV1	c.3509A>G	NM_032119.4	NP_115495.3:p.(Tyr1170Cys)	NC_000005.9:g.89948255A>G	VUS	1 lab	a6f1db5c2b
1:216371751 USH2A C>T	1	216371751	216371751	C	T	USH2A	c.3987G>A	NM_206933.2	NP_996816.2:p.(Leu1329=)	NC_000001.10:g.216371751C>T	(Likely) benign	1 lab	a6f472374b
15:51828622 DMXL2 T>G	15	51828622	51828622	T	G	DMXL2	c.2055A>C	NM_001174116.1	NP_001167587.1:p.(Ser685=)	NC_000015.9:g.51828622T>G	(Likely) benign	1 lab	a6f5c4c06b
14:20943277 PNP G>C	14	20943277	20943277	G	C	PNP	c.518G>C	NM_000270.3	NP_000261.2:p.(Arg173Thr)	NC_000014.8:g.20943277G>C	VUS	1 lab	a6f8446077
X:48544182 WAS C>T	X	48544182	48544182	C	T	WAS	c.420C>T	NM_000377.2	NP_000368.1:p.(Leu140=)	NC_000023.10:g.48544182C>T	(Likely) benign	1 lab	a6f86a661c
10:73567348 CDH23 G>A	10	73567348	73567348	G	A	CDH23	c.8384G>A	NM_022124.5	NP_071407.4:p.(Arg2795Gln)	NC_000010.10:g.73567348G>A	(Likely) benign	1 lab	a6fb62f595
1:113459958 SLC16A1 C>T	1	113459958	113459958	C	T	SLC16A1	c.1070G>A	NM_001166496.1	NP_001159968.1:p.(Cys357Tyr)	NC_000001.10:g.113459958C>T	VUS	1 lab	a6fc1f4db7
20:31024013 ASXL1 C>G	20	31024013	31024013	C	G	ASXL1	c.3498C>G	NM_015338.5	NP_056153.2:p.(Ser1166Arg)	NC_000020.10:g.31024013C>G	(Likely) benign	1 lab	a6fd10d636
3:47164500 SETD2 C>G	3	47164500	47164500	C	G	SETD2	c.1626G>C	NM_014159.6	NP_054878.5:p.(Gly542=)	NC_000003.11:g.47164500C>G	(Likely) benign	1 lab	a6fed0d7bf
11:93460785 CEP295 G>GAGCT	11	93460785	93460789	G	GAGCT	CEP295	c.7144_7147dup	NM_033395.2	NP_203753.1:p.(Ser2383Ter)	NC_000011.9:g.93460786_93460789dup	VUS	1 lab	a6ff855ffc
3:48606840 COL7A1 G>A	3	48606840	48606840	G	A	COL7A1	c.7654C>T	NM_000094.3	NP_000085.1:p.(Pro2552Ser)	NC_000003.11:g.48606840G>A	(Likely) benign	1 lab	a70066d6e0
14:89039234 ZC3H14 T>C	14	89039234	89039234	T	C	ZC3H14	c.642T>C	NM_001326297.1	NP_001313226.1:p.(Asp214=)	NC_000014.8:g.89039234T>C	(Likely) benign	1 lab	a7007b364f
2:128783796 SAP130 G>C	2	128783796	128783796	G	C	SAP130	c.149C>G	NM_001145928.1	NP_001139400.1:p.(Ala50Gly)	NC_000002.11:g.128783796G>C	VUS	1 lab	a7011564a7
2:50699452 NRXN1 G>T	2	50699452	50699452	G	T	NRXN1	c.3348C>A	NM_001135659.2	NP_001129131.1:p.(Ile1116=)	NC_000002.11:g.50699452G>T	(Likely) benign	1 lab	a701861029
16:81181015 MISSING G>T	16	81181015	81181015	G	T	MISSING				NC_000016.9:g.81181015G>T	(Likely) benign	1 lab	a70274400b
3:132415577 NPHP3 C>T	3	132415577	132415577	C	T	NPHP3	c.2169G>A	NM_153240.4	NP_694972.3:p.(Ala723=)	NC_000003.11:g.132415577C>T	(Likely) benign	1 lab	a70655cde0
18:44113279 LOXHD1 C>A	18	44113279	44113279	C	A	LOXHD1	c.4221G>T	NM_144612.6	NP_653213.6:p.(Glu1407Asp)	NC_000018.9:g.44113279C>A	VUS	1 lab	a70803982e
5:37158390 CPLANE1 T>A	5	37158390	37158390	T	A	CPLANE1	c.7748A>T	NM_023073.3	NP_075561.3:p.(Lys2583Met)	NC_000005.9:g.37158390T>A	VUS	1 lab	a7087fd58b
10:73501521 CDH23 T>C	10	73501521	73501521	T	C	CDH23	c.4688T>C	NM_022124.5	NP_071407.4:p.(Leu1563Pro)	NC_000010.10:g.73501521T>C	VUS	1 lab	a708b11ae1
11:117257977 CEP164 A>G	11	117257977	117257977	A	G	CEP164	c.1783A>G	NM_014956.4	NP_055771.4:p.(Met595Val)	NC_000011.9:g.117257977A>G	(Likely) benign	1 lab	a70a379854
5:134015418 SEC24A G>A	5	134015418	134015418	G	A	SEC24A	c.1381G>A	NM_021982.3	NP_068817.1:p.(Val461Ile)	NC_000005.9:g.134015418G>A	VUS	1 lab	a70a7aa0c9
X:135313096 MAP7D3 G>T	X	135313096	135313096	G	T	MAP7D3	c.1338C>A	NM_001173517.1	NP_001166988.1:p.(Ile446=)	NC_000023.10:g.135313096G>T	(Likely) benign	1 lab	a70ab777a1
17:73944473 ACOX1 C>A	17	73944473	73944473	C	A	ACOX1	c.1680G>T	NM_001185039.1	NP_001171968.1:p.(Leu560=)	NC_000017.10:g.73944473C>A	(Likely) benign	1 lab	a70b479c1b
17:76510927 DNAH17 G>A	17	76510927	76510927	G	A	DNAH17	c.4042C>T	NM_173628.3	NP_775899.3:p.(Arg1348Cys)	NC_000017.10:g.76510927G>A	VUS	1 lab	a70b5b367a
8:20073994 ATP6V1B2 G>A	8	20073994	20073994	G	A	ATP6V1B2	c.1149G>A	NM_001693.3	NP_001684.2:p.(Leu383=)	NC_000008.10:g.20073994G>A	(Likely) benign	1 lab	a70c1c57d2
6:157522324 ARID1B C>T	6	157522324	157522324	C	T	ARID1B	c.4596C>T	NM_020732.3	NP_065783.3:p.(Ile1532=)	NC_000006.11:g.157522324C>T	(Likely) benign	1 lab	a70c491910
1:216019379 USH2A T>C	1	216019379	216019379	T	C	USH2A	c.8846-4A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216019379T>C	(Likely) benign	1 lab	a70ca5e653
3:48508910 TREX1 G>A	3	48508910	48508910	G	A	TREX1	c.826G>A	NM_007248.4	NP_009179.2:p.(Gly276Arg)	NC_000003.11:g.48508910G>A	VUS	1 lab	a70d54173d
10:5014460 AKR1C1 T>A	10	5014460	5014460	T	A	AKR1C1	c.638T>A	NM_001353.6	NP_001344.2:p.(Leu213Gln)	NC_000010.10:g.5014460T>A	VUS	1 lab	a70ffd99b8
3:186953913 MASP1 C>T	3	186953913	186953913	C	T	MASP1	c.1746G>A	NM_139125.3	NP_624302.1:p.(Pro582=)	NC_000003.11:g.186953913C>T	(Likely) benign	1 lab	a7104df656
15:48829954 FBN1 C>T	15	48829954	48829954	C	T	FBN1	c.590G>A	NM_000138.4	NP_000129.3:p.(Gly197Glu)	NC_000015.9:g.48829954C>T	VUS	1 lab	a7107218bf
5:50090779 PARP8 G>A	5	50090779	50090779	G	A	PARP8	c.956G>A	NM_024615.4	NP_078891.2:p.(Arg319Gln)	NC_000005.9:g.50090779G>A	VUS	1 lab	a710cfc6e6
X:35974225 CFAP47 A>G	X	35974225	35974225	A	G	CFAP47	c.1322A>G	NM_152632.3	NP_689845.2:p.(Glu441Gly)	NC_000023.10:g.35974225A>G	VUS	1 lab	a7117797d1
16:2130373 TSC2 C>A	16	2130373	2130373	C	A	TSC2	c.3605C>A	NM_000548.3	NP_000539.2:p.(Pro1202His)	NC_000016.9:g.2130373C>A	(Likely) pathogenic	1 lab	a7118a413d
1:11847536 C1orf167 C>G	1	11847536	11847536	C	G	C1orf167	c.3659C>G	NM_001010881.1	NP_001010881.1:p.(Thr1220Arg)	NC_000001.10:g.11847536C>G	VUS	1 lab	a716503038
14:105412700 AHNAK2 G>A	14	105412700	105412700	G	A	AHNAK2	c.9088C>T	NM_138420.3	NP_612429.2:p.(Pro3030Ser)	NC_000014.8:g.105412700G>A	(Likely) benign	1 lab	a71828eadb
1:47746113 STIL T>C	1	47746113	47746113	T	C	STIL	c.2017A>G	NM_001048166.1	NP_001041631.1:p.(Ser673Gly)	NC_000001.10:g.47746113T>C	(Likely) benign	1 lab	a718472d66
4:16002234 PROM1 C>G	4	16002234	16002234	C	G	PROM1	c.1436G>C	NM_001145847.1	NP_001139319.1:p.(Gly479Ala)	NC_000004.11:g.16002234C>G	VUS	1 lab	a71882d95b
12:7842932 GDF3 C>T	12	7842932	7842932	C	T	GDF3	c.637G>A	NM_020634.2	NP_065685.1:p.(Gly213Arg)	NC_000012.11:g.7842932C>T	(Likely) benign	1 lab	a71a6f2562
X:102192815 RAB40AL T>A	X	102192815	102192815	T	A	RAB40AL	c.569T>A	NM_001031834.1	NP_001027004.1:p.(Leu190Gln)	NC_000023.10:g.102192815T>A	VUS	1 lab	a71c7d2c8a
11:70333098 SHANK2 C>T	11	70333098	70333098	C	T	SHANK2	c.1536G>A	NM_133266.3	NP_573573.2:p.(Pro512=)	NC_000011.9:g.70333098C>T	(Likely) benign	1 lab	a71de43959
6:30308050 TRIM39 A>C	6	30308050	30308050	A	C	TRIM39	c.805A>C	NM_021253.3	NP_067076.2:p.(Asn269His)	NC_000006.11:g.30308050A>C	VUS	1 lab	a71e4a84a4
19:33350806 SLC7A9 C>T	19	33350806	33350806	C	T	SLC7A9	c.814G>A	NM_001243036.1	NP_001229965.1:p.(Val272Met)	NC_000019.9:g.33350806C>T	VUS	1 lab	a71e883f76
2:212543870 ERBB4 T>C	2	212543870	212543870	T	C	ERBB4	c.1529A>G	NM_005235.2	NP_005226.1:p.(Asp510Gly)	NC_000002.11:g.212543870T>C	(Likely) benign	1 lab	a71eda8a79
12:88505628 CEP290 T>C	12	88505628	88505628	T	C	CEP290	c.2060A>G	NM_025114.3	NP_079390.3:p.(Glu687Gly)	NC_000012.11:g.88505628T>C	VUS	1 lab	a71f939fb2
11:66332128 CTSF G>A	11	66332128	66332128	G	A	CTSF	c.1231-9C>T	NM_003793.3	NP_003784.2:p.?	NC_000011.9:g.66332128G>A	(Likely) benign	1 lab	a720572676
16:81944333 PLCG2 T>G	16	81944333	81944333	T	G	PLCG2	c.1934+8T>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81944333T>G	(Likely) benign	1 lab	a7214ceed9
6:33662767 ITPR3 G>C	6	33662767	33662767	G	C	ITPR3	c.7852G>C	NM_002224.3	NP_002215.2:p.(Glu2618Gln)	NC_000006.11:g.33662767G>C	VUS	1 lab	a723a5dbe7
20:389396 RBCK1 C>A	20	389396	389396	C	A	RBCK1	c.14C>A	NM_006462.5	NP_006453.1:p.(Thr5Lys)	NC_000020.10:g.389396C>A	VUS	1 lab	a724e3cac5
X:148068969 AFF2 A>T	X	148068969	148068969	A	T	AFF2	c.3696A>T	NM_002025.3	NP_002016.2:p.(Pro1232=)	NC_000023.10:g.148068969A>T	(Likely) benign	1 lab	a7250f3be1
19:3918855 ATCAY G>A	19	3918855	3918855	G	A	ATCAY	c.1053G>A	NM_033064.4	NP_149053.1:p.(Glu351=)	NC_000019.9:g.3918855G>A	(Likely) benign	1 lab	a7270f21c1
15:40993338 RAD51 C>T	15	40993338	40993338	C	T	RAD51	c.164C>T	NM_133487.3	NP_597994.3:p.(Ala55Val)	NC_000015.9:g.40993338C>T	VUS	1 lab	a72a7b2602
3:142238569 ATR A>G	3	142238569	142238569	A	G	ATR	c.4324T>C	NM_001184.3	NP_001175.2:p.(Leu1442=)	NC_000003.11:g.142238569A>G	(Likely) benign	1 lab	a72fac2d06
14:75558030 NEK9 T>C	14	75558030	75558030	T	C	NEK9	c.2421A>G	NM_001329237.1	NP_001316166.1:p.(Thr807=)	NC_000014.8:g.75558030T>C	(Likely) benign	1 lab	a72febcbf2
5:41186199 C6 C>T	5	41186199	41186199	C	T	C6	c.699G>A	NM_001115131.2	NP_001108603.2:p.(Pro233=)	NC_000005.9:g.41186199C>T	(Likely) benign	1 lab	a730595c76
18:72997738 TSHZ1 G>A	18	72997738	72997738	G	A	TSHZ1	c.241G>A	NM_005786.5	NP_005777.3:p.(Glu81Lys)	NC_000018.9:g.72997738G>A	(Likely) benign	1 lab	a73101db30
X:131205147 STK26 A>G	X	131205147	131205147	A	G	STK26	c.834A>G	NM_016542.3	NP_057626.2:p.(Ser278=)	NC_000023.10:g.131205147A>G	(Likely) benign	1 lab	a7323fd0ef
7:103191528 RELN C>T	7	103191528	103191528	C	T	RELN	c.6288G>A	NM_005045.3	NP_005036.2:p.(Lys2096=)	NC_000007.13:g.103191528C>T	(Likely) benign	1 lab	a732c164bd
3:37038196 MLH1 T>G	3	37038196	37038196	T	G	MLH1	c.203T>G	NM_000249.3	NP_000240.1:p.(Ile68Ser)	NC_000003.11:g.37038196T>G	VUS	1 lab	a7340b5399
11:64418721 NRXN2 C>T	11	64418721	64418721	C	T	NRXN2	c.2918+6G>A	NM_015080.3	NP_055895.1:p.?	NC_000011.9:g.64418721C>T	(Likely) benign	1 lab	a734bf4330
17:41002110 AOC2 T>A	17	41002110	41002110	T	A	AOC2	c.2016T>A	NM_009590.4	NP_033720.2:p.(Ala672=)	NC_000017.10:g.41002110T>A	(Likely) benign	1 lab	a7356b5f10
20:47610970 ARFGEF2 A>G	20	47610970	47610970	A	G	ARFGEF2	c.2974-18A>G	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47610970A>G	(Likely) benign	1 lab	a735c6767c
1:41456828 CTPS1 G>T	1	41456828	41456828	G	T	CTPS1	c.556-9G>T	NM_001905.4	NP_001896.2:p.?	NC_000001.10:g.41456828G>T	(Likely) benign	1 lab	a7363efc89
11:78204103 NARS2 A>T	11	78204103	78204103	A	T	NARS2	c.822+6T>A	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78204103A>T	(Likely) benign	1 lab	a73650cb53
12:9001354 A2ML1 CT>C	12	9001354	9001355	CT	C	A2ML1	c.1873del	NM_144670.6	NP_653271.3:p.(Tyr625IlefsTer56)	NC_000012.11:g.9001355del	VUS	1 lab	a73968f171
18:67860646 RTTN T>C	18	67860646	67860646	T	C	RTTN	c.885A>G	NM_173630.3	NP_775901.3:p.(Ala295=)	NC_000018.9:g.67860646T>C	(Likely) benign	1 lab	a73ac8df4c
22:17584384 IL17RA C>T	22	17584384	17584384	C	T	IL17RA	c.763C>T	NM_014339.6	NP_055154.3:p.(Pro255Ser)	NC_000022.10:g.17584384C>T	VUS	1 lab	a73ca1b19c
7:21813606 DNAH11 A>T	7	21813606	21813606	A	T	DNAH11				NC_000007.13:g.21813606A>T	VUS	1 lab	a73d720941
16:89349254 ANKRD11 C>A	16	89349254	89349254	C	A	ANKRD11	c.3696G>T	NM_001256182.1	NP_001243111.1:p.(Lys1232Asn)	NC_000016.9:g.89349254C>A	VUS	1 lab	a73e4dcc5b
1:6530695 PLEKHG5 GGA>G	1	6530695	6530698	GGA	G	PLEKHG5	c.1549_1550del	NM_020631.6	NP_065682.2:p.(Ser517ArgfsTer137)	NC_000001.10:g.6530697_6530698del	(Likely) pathogenic	1 lab	a73ef4598a
16:72032261 PKD1L3 G>C	16	72032261	72032261	G	C	PKD1L3	c.328C>G	NM_181536.1	NP_853514.1:p.(Leu110Val)	NC_000016.9:g.72032261G>C	(Likely) benign	1 lab	a73f47fae8
X:153979292 GAB3 C>T	X	153979292	153979292	C	T	GAB3	c.9G>A	NM_001081573.2	NP_001075042.1:p.(Ala3=)	NC_000023.10:g.153979292C>T	(Likely) benign	1 lab	a74092fe8e
6:33281505 TAPBP C>A	6	33281505	33281505	C	A	TAPBP	c.174G>T	NM_003190.4	NP_003181.3:p.(Pro58=)	NC_000006.11:g.33281505C>A	(Likely) benign	1 lab	a7426232a8
8:22262320 SLC39A14 C>A	8	22262320	22262320	C	A	SLC39A14	c.97C>A	NM_001135153.2	NP_001128625.1:p.(Leu33Met)	NC_000008.10:g.22262320C>A	(Likely) benign	1 lab	a744009860
X:67937600 STARD8 C>A	X	67937600	67937600	C	A	STARD8	c.844C>A	NM_001142503.2	NP_001135975.1:p.(Pro282Thr)	NC_000023.10:g.67937600C>A	(Likely) benign	1 lab	a744f46151
19:617579 POLRMT A>G	19	617579	617579	A	G	POLRMT	c.3572T>C	NM_005035.3	NP_005026.3:p.(Phe1191Ser)	NC_000019.9:g.617579A>G	VUS	1 lab	a745583c17
8:145024637 PLEC C>T	8	145024637	145024637	C	T	PLEC	c.238G>A	NM_201380.3	NP_958782.1:p.(Ala80Thr)	NC_000008.10:g.145024637C>T	(Likely) benign	1 lab	a745fbfb23
4:55561675 KIT C>T	4	55561675	55561675	C	T	KIT	c.68-3C>T	NM_000222.2	NP_000213.1:p.?	NC_000004.11:g.55561675C>T	(Likely) benign	1 lab	a74878aa36
1:220355619 RAB3GAP2 G>A	1	220355619	220355619	G	A	RAB3GAP2	c.2290C>T	NM_012414.3	NP_036546.2:p.(Leu764Phe)	NC_000001.10:g.220355619G>A	(Likely) benign	1 lab	a749f0e478
3:14174066 TMEM43 A>G	3	14174066	14174066	A	G	TMEM43	c.413A>G	NM_024334.2	NP_077310.1:p.(Gln138Arg)	NC_000003.11:g.14174066A>G	VUS	1 lab	a749fae883
X:118971902 UPF3B G>A	X	118971902	118971902	G	A	UPF3B	c.1120C>T	NM_080632.2	NP_542199.1:p.(Arg374Cys)	NC_000023.10:g.118971902G>A	VUS	1 lab	a74abe4f51
1:52854179 ORC1 A>G	1	52854179	52854179	A	G	ORC1	c.1318T>C	NM_004153.3	NP_004144.2:p.(Ser440Pro)	NC_000001.10:g.52854179A>G	(Likely) benign	1 lab	a74b3877b8
1:243652312 SDCCAG8 C>G	1	243652312	243652312	C	G	SDCCAG8	c.1083-4C>G	NM_001350251.1	NP_001337180.1:p.?	NC_000001.10:g.243652312C>G	(Likely) benign	1 lab	a74ba502a5
6:32008536 CYP21A2 G>C	6	32008536	32008536	G	C	CYP21A2	c.1120G>C	NM_001128590.3	NP_001122062.3:p.(Glu374Gln)	NC_000006.11:g.32008536G>C	(Likely) benign	1 lab	a74bccef49
2:166892836 SCN1A G>A	2	166892836	166892836	G	A	SCN1A	c.3151C>T	NM_001165963.2	NP_001159435.1:p.(Leu1051Phe)	NC_000002.11:g.166892836G>A	VUS	1 lab	a74d58a664
4:183713732 TENM3 C>T	4	183713732	183713732	C	T	TENM3	c.5907C>T	NM_001080477.3	NP_001073946.1:p.(Thr1969=)	NC_000004.11:g.183713732C>T	(Likely) benign	1 lab	a74f931a48
2:109370004 RANBP2 T>C	2	109370004	109370004	T	C	RANBP2	c.2040T>C	NM_006267.4	NP_006258.3:p.(Tyr680=)	NC_000002.11:g.109370004T>C	(Likely) benign	1 lab	a751aa4b10
16:3707751 DNASE1 C>T	16	3707751	3707751	C	T	DNASE1	c.735C>T	NM_005223.3	NP_005214.2:p.(Gly245=)	NC_000016.9:g.3707751C>T	(Likely) benign	1 lab	a751d6d47e
1:198700763 PTPRC A>C	1	198700763	198700763	A	C	PTPRC	c.1882A>C	NM_002838.4	NP_002829.3:p.(Met628Leu)	NC_000001.10:g.198700763A>C	(Likely) benign	1 lab	a752713d17
16:24574954 RBBP6 C>G	16	24574954	24574954	C	G	RBBP6	c.1489C>G	NM_006910.5	NP_008841.2:p.(Arg497Gly)	NC_000016.9:g.24574954C>G	VUS	1 lab	a7542c904e
9:98220458 PTCH1 G>A	9	98220458	98220458	G	A	PTCH1	c.2807C>T	NM_001083602.1	NP_001077071.1:p.(Thr936Met)	NC_000009.11:g.98220458G>A	VUS	1 lab	a754674f63
12:133159916 FBRSL1 C>T	12	133159916	133159916	C	T	FBRSL1	c.2690C>T	NM_001142641.2	NP_001136113.1:p.(Pro897Leu)	NC_000012.11:g.133159916C>T	VUS	1 lab	a756b09ef8
11:1780223 CTSD C>T	11	1780223	1780223	C	T	CTSD	c.447G>A	NM_001909.4	NP_001900.1:p.(Gly149=)	NC_000011.9:g.1780223C>T	(Likely) benign	1 lab	a7578c5635
X:91873686 PCDH11X T>A	X	91873686	91873686	T	A	PCDH11X	c.3791T>A	NM_032968.4	NP_116750.1:p.(Val1264Asp)	NC_000023.10:g.91873686T>A	VUS	1 lab	a758c3534b
1:38082265 RSPO1 C>A	1	38082265	38082265	C	A	RSPO1	c.177G>T	NM_001038633.3	NP_001033722.1:p.(Lys59Asn)	NC_000001.10:g.38082265C>A	VUS	1 lab	a758e718a0
3:49060125 NDUFAF3 C>G	3	49060125	49060125	C	G	NDUFAF3	c.271-10C>G	NM_199069.1	NP_951032.1:p.?	NC_000003.11:g.49060125C>G	(Likely) benign	1 lab	a7593b0a60
21:46932114 COL18A1 C>T	21	46932114	46932114	C	T	COL18A1	c.5058C>T	NM_130444.3	NP_569711.2:p.(Ser1686=)	NC_000021.8:g.46932114C>T	(Likely) benign	1 lab	a75a94f03b
3:122632505 SEMA5B C>A	3	122632505	122632505	C	A	SEMA5B	c.2156G>T	NM_001256346.1	NP_001243275.1:p.(Cys719Phe)	NC_000003.11:g.122632505C>A	VUS	1 lab	a75ac78b3c
4:187541351 FAT1 C>T	4	187541351	187541351	C	T	FAT1	c.6389G>A	NM_005245.3	NP_005236.2:p.(Gly2130Glu)	NC_000004.11:g.187541351C>T	VUS	1 lab	a75bdb5c50
20:55943867 RAE1 A>G	20	55943867	55943867	A	G	RAE1	c.641A>G	NM_001015885.1	NP_001015885.1:p.(Gln214Arg)	NC_000020.10:g.55943867A>G	VUS	1 lab	a75be090fe
6:43022138 MRPL2 G>C	6	43022138	43022138	G	C	MRPL2	c.792C>G	NM_015950.5	NP_057034.2:p.(Arg264=)	NC_000006.11:g.43022138G>C	(Likely) benign	1 lab	a75fe7ce07
17:29623056 NF1 A>C	17	29623056	29623056	A	C	NF1	c.4773-29782A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29623056A>C	(Likely) benign	1 lab	a760a39f04
8:140631062 KCNK9 G>A	8	140631062	140631062	G	A	KCNK9	c.564C>T	NM_001282534.1	NP_001269463.1:p.(His188=)	NC_000008.10:g.140631062G>A	(Likely) benign	1 lab	a761ed56c4
X:149681118 MAMLD1 C>T	X	149681118	149681118	C	T	MAMLD1	c.2772C>T	NM_001177465.3	NP_001170936.1:p.(Asp924=)	NC_000023.10:g.149681118C>T	(Likely) benign	1 lab	a76486288f
1:111147033 KCNA2 C>T	1	111147033	111147033	C	T	KCNA2	c.372G>A	NM_004974.3	NP_004965.1:p.(Glu124=)	NC_000001.10:g.111147033C>T	(Likely) benign	1 lab	a7654deb9f
20:5294743 PROKR2 G>A	20	5294743	5294743	G	A	PROKR2	c.273C>T	NM_144773.3	NP_658986.1:p.(Leu91=)	NC_000020.10:g.5294743G>A	(Likely) benign	1 lab	a765fe2699
8:7834249 USP17L3 A>T	8	7834249	7834249	A	T	USP17L3	c.1259T>A	NM_001256871.1	NP_001243800.1:p.(Leu420Ter)	NC_000008.10:g.7834249A>T	VUS	1 lab	a7683429ad
10:70748856 KIFBP C>T	10	70748856	70748856	C	T	KIFBP	c.268C>T	NM_015634.3	NP_056449.1:p.(Arg90Ter)	NC_000010.10:g.70748856C>T	(Likely) pathogenic	1 lab	a768fd7c61
10:50678877 ERCC6 G>T	10	50678877	50678877	G	T	ERCC6	c.3129C>A	NM_000124.2	NP_000115.1:p.(Ala1043=)	NC_000010.10:g.50678877G>T	(Likely) benign	1 lab	a76a22fb7c
X:153174571 ARHGAP4 G>A	X	153174571	153174571	G	A	ARHGAP4	c.2680C>T	NM_001164741.1	NP_001158213.1:p.(Arg894Cys)	NC_000023.10:g.153174571G>A	(Likely) benign	1 lab	a76a385001
10:14974881 DCLRE1C G>C	10	14974881	14974881	G	C	DCLRE1C	c.392C>G	NM_001289079.1	NP_001276008.1:p.(Thr131Ser)	NC_000010.10:g.14974881G>C	(Likely) benign	1 lab	a76a95adb3
17:29664515 NF1 C>A	17	29664515	29664515	C	A	NF1	c.6494C>A	NM_000267.3	NP_000258.1:p.(Ser2165Ter)	NC_000017.10:g.29664515C>A	(Likely) pathogenic	1 lab	a773cdeaea
9:71840272 TJP2 G>A	9	71840272	71840272	G	A	TJP2	c.1005G>A	NM_004817.4	NP_004808.2:p.(Thr335=)	NC_000009.11:g.71840272G>A	(Likely) benign	1 lab	a773e07219
X:18626930 CDKL5 G>T	X	18626930	18626930	G	T	CDKL5	c.1945-1G>T	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18626930G>T	(Likely) pathogenic	1 lab	a7747b9f41
19:42866344 MEGF8 C>T	19	42866344	42866344	C	T	MEGF8	c.5823C>T	NM_001271938.2	NP_001258867.1:p.(Thr1941=)	NC_000019.9:g.42866344C>T	(Likely) benign	1 lab	a776585890
22:51160060 SHANK3 GGGCCA>G	22	51160060	51160072	GGGCCA	G	SHANK3	c.4032_4036del	NM_001372044.2	NP_001358973.1:p.(Gly1346LeufsTer23)	NC_000022.10:g.51160068_51160072del	(Likely) pathogenic	1 lab	a77884e986
3:164735375 SI C>T	3	164735375	164735375	C	T	SI	c.3720G>A	NM_001041.3	NP_001032.2:p.(Arg1240=)	NC_000003.11:g.164735375C>T	(Likely) benign	1 lab	a778bc18f2
11:117266868 CEP164 T>C	11	117266868	117266868	T	C	CEP164	c.3188T>C	NM_014956.4	NP_055771.4:p.(Ile1063Thr)	NC_000011.9:g.117266868T>C	VUS	1 lab	a7793684ec
4:39207251 WDR19 G>A	4	39207251	39207251	G	A	WDR19	c.785G>A	NM_025132.3	NP_079408.3:p.(Gly262Glu)	NC_000004.11:g.39207251G>A	(Likely) benign	1 lab	a77baeb16c
22:50657602 TUBGCP6 G>A	22	50657602	50657602	G	A	TUBGCP6	c.4521C>T	NM_020461.3	NP_065194.2:p.(Phe1507=)	NC_000022.10:g.50657602G>A	(Likely) benign	1 lab	a77ce0f6ae
20:25062496 VSX1 C>T	20	25062496	25062496	C	T	VSX1	c.237G>A	NM_001256272.1	NP_001243201.1:p.(Pro79=)	NC_000020.10:g.25062496C>T	(Likely) benign	1 lab	a780bcc2e8
6:108395712 OSTM1 C>T	6	108395712	108395712	C	T	OSTM1	c.144G>A	NM_014028.3	NP_054747.2:p.(Ser48=)	NC_000006.11:g.108395712C>T	(Likely) benign	1 lab	a782bb8517
X:152990762 ABCD1 C>G	X	152990762	152990762	C	G	ABCD1	c.41C>G	NM_000033.3	NP_000024.2:p.(Thr14Arg)	NC_000023.10:g.152990762C>G	(Likely) benign	1 lab	a783665e2e
8:43024334 HGSNAT T>CCC	8	43024334	43024334	T	CCC	HGSNAT	c.582delinsCCC	NM_152419.2	NP_689632.2:p.(Trp195ProfsTer7)	NC_000008.10:g.43024334delinsCCC	(Likely) pathogenic	1 lab	a783816139
2:38526471 ATL2 T>TA	2	38526471	38526477	T	TA	ATL2	c.448-3dup	NM_001330464.1	NP_001317393.1:p.?	NC_000002.11:g.38526477dup	(Likely) pathogenic	1 lab	a785958a4a
1:237666809 RYR2 C>CCTTG	1	237666809	237666811	C	CCTTG	RYR2	c.2613+5_2613+6insTTGC	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237666810_237666811insTTGC	(Likely) benign	1 lab	a785a1a87a
12:80890196 MISSING A>C	12	80890196	80890196	A	C	MISSING				NC_000012.11:g.80890196A>C	(Likely) benign	1 lab	a7866a5860
7:121721659 AASS G>T	7	121721659	121721659	G	T	AASS	c.2185-10C>A	NM_005763.3	NP_005754.2:p.?	NC_000007.13:g.121721659G>T	(Likely) benign	1 lab	a7875de350
17:29663651 NF1 A>T	17	29663651	29663651	A	T	NF1	c.6085-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663651A>T	(Likely) pathogenic	1 lab	a78b5bf5fd
17:61911851 SMARCD2 G>A	17	61911851	61911851	G	A	SMARCD2	c.904C>T	NM_001098426.1	NP_001091896.1:p.(Leu302Phe)	NC_000017.10:g.61911851G>A	(Likely) benign	1 lab	a78badb545
X:69713241 DLG3 C>T	X	69713241	69713241	C	T	DLG3	c.778C>T	NM_020730.2	NP_065781.1:p.(Arg260Cys)	NC_000023.10:g.69713241C>T	VUS	1 lab	a78bf801d8
17:33495369 UNC45B C>T	17	33495369	33495369	C	T	UNC45B	c.1441C>T	NM_001033576.1	NP_001028748.1:p.(Arg481Cys)	NC_000017.10:g.33495369C>T	VUS	1 lab	a78fe70682
15:23049066 NIPA1 C>G	15	23049066	23049066	C	G	NIPA1	c.753G>C	NM_144599.4	NP_653200.2:p.(Ala251=)	NC_000015.9:g.23049066C>G	(Likely) benign	1 lab	a790de38c7
5:176673717 NSD1 C>T	5	176673717	176673717	C	T	NSD1	c.4417C>T	NM_022455.4	NP_071900.2:p.(Arg1473Ter)	NC_000005.9:g.176673717C>T	(Likely) pathogenic	1 lab	a79279c3bf
4:110394288 SEC24B C>T	4	110394288	110394288	C	T	SEC24B	c.1099C>T	NM_001300813.2	NP_001287742.1:p.(Pro367Ser)	NC_000004.11:g.110394288C>T	(Likely) benign	1 lab	a794ab9098
2:219553458 STK36 G>A	2	219553458	219553458	G	A	STK36	c.1419G>A	NM_015690.4	NP_056505.2:p.(Leu473=)	NC_000002.11:g.219553458G>A	(Likely) benign	1 lab	a795527333
3:184033626 EIF4G1 A>C	3	184033626	184033626	A	C	EIF4G1	c.42A>C	NM_182917.4	NP_886553.3:p.(Pro14=)	NC_000003.11:g.184033626A>C	(Likely) benign	1 lab	a79a89626c
17:29559737 NF1 A>G	17	29559737	29559737	A	G	NF1	c.3334A>G	NM_000267.3	NP_000258.1:p.(Asn1112Asp)	NC_000017.10:g.29559737A>G	VUS	1 lab	a79b4e3e1d
20:34085643 CEP250 G>A	20	34085643	34085643	G	A	CEP250	c.3402G>A	NM_007186.5	NP_009117.2:p.(Thr1134=)	NC_000020.10:g.34085643G>A	(Likely) benign	1 lab	a79c75b3a5
14:59113390 DACT1 C>T	14	59113390	59113390	C	T	DACT1	c.2049C>T	NM_016651.5	NP_057735.2:p.(Ala683=)	NC_000014.8:g.59113390C>T	(Likely) benign	1 lab	a79f4b361a
6:35423541 FANCE G>T	6	35423541	35423541	G	T	FANCE	c.266G>T	NM_021922.2	NP_068741.1:p.(Arg89Leu)	NC_000006.11:g.35423541G>T	(Likely) benign	1 lab	a79ff1e55c
22:50956008 NCAPH2 G>A	22	50956008	50956008	G	A	NCAPH2	c.269G>A	NM_001185011.1	NP_001171940.1:p.(Arg90Gln)	NC_000022.10:g.50956008G>A	(Likely) benign	1 lab	a7a1643d27
X:53575121 HUWE1 G>A	X	53575121	53575121	G	A	HUWE1	c.10149C>T	NM_031407.6	NP_113584.3:p.(Gly3383=)	NC_000023.10:g.53575121G>A	(Likely) benign	1 lab	a7a224d652
8:144990987 PLEC G>A	8	144990987	144990987	G	A	PLEC	c.13413C>T	NM_201380.3	NP_958782.1:p.(Asp4471=)	NC_000008.10:g.144990987G>A	(Likely) benign	1 lab	a7b8a1e8f4
17:29667627 NF1 G>A	17	29667627	29667627	G	A	NF1	c.6963G>A	NM_000267.3	NP_000258.1:p.(Leu2321=)	NC_000017.10:g.29667627G>A	(Likely) benign	1 lab	a7a3fb7bbb
X:48649690 GATA1 G>A	X	48649690	48649690	G	A	GATA1	c.174G>A	NM_002049.3	NP_002040.1:p.(Ala58=)	NC_000023.10:g.48649690G>A	(Likely) benign	1 lab	a7a44931c7
13:25466759 CPAP A>C	13	25466759	25466759	A	C	CPAP	c.3216+22T>G	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25466759A>C	(Likely) benign	1 lab	a7a548066b
16:1573583 IFT140 G>C	16	1573583	1573583	G	C	IFT140	c.3389C>G	NM_014714.3	NP_055529.2:p.(Ser1130Cys)	NC_000016.9:g.1573583G>C	VUS	1 lab	a7a79c6ba1
6:3225605 TUBB2B G>A	6	3225605	3225605	G	A	TUBB2B	c.718C>T	NM_178012.4	NP_821080.1:p.(Leu240=)	NC_000006.11:g.3225605G>A	(Likely) benign	1 lab	a7a7f6d446
X:66765988 AR G>GT	X	66765988	66765989	G	GT	AR	c.1000_1001insT	NM_000044.4	NP_000035.2:p.(Gly334ValfsTer7)	NC_000023.10:g.66765988_66765989insT	(Likely) pathogenic	1 lab	a7a80b02d7
9:2646401 VLDLR A>G	9	2646401	2646401	A	G	VLDLR	c.1552A>G	NM_003383.4	NP_003374.3:p.(Ile518Val)	NC_000009.11:g.2646401A>G	VUS	1 lab	a7a8c3f9ff
X:48419246 TBC1D25 T>C	X	48419246	48419246	T	C	TBC1D25	c.1776T>C	NM_001348265.1	NP_001335194.1:p.(Leu592=)	NC_000023.10:g.48419246T>C	(Likely) benign	1 lab	a7a8eb98f5
14:58953838 KIAA0586 G>A	14	58953838	58953838	G	A	KIAA0586	c.3258G>A	NM_001329943.2	NP_001316872.1:p.(Ser1086=)	NC_000014.8:g.58953838G>A	(Likely) benign	1 lab	a7a9d03b84
7:42084989 GLI3 TA>G	7	42084989	42084990	TA	G	GLI3	c.819_820delinsC	NM_000168.5	NP_000159.3:p.(Met274TrpfsTer36)	NC_000007.13:g.42084989_42084990delinsG	(Likely) pathogenic	1 lab	a7ac675f8d
X:13785293 OFD1 C>T	X	13785293	13785293	C	T	OFD1	c.2227C>T	NM_001330210.1	NP_001317139.1:p.(Arg743Trp)	NC_000023.10:g.13785293C>T	(Likely) benign	1 lab	a7ad437d46
2:29295741 PCARE C>A	2	29295741	29295741	C	A	PCARE	c.1387G>T	NM_001029883.2	NP_001025054.1:p.(Val463Phe)	NC_000002.11:g.29295741C>A	(Likely) benign	1 lab	a7ad881054
3:48508094 TREX1 C>CTCA	3	48508094	48508099	C	CTCA	TREX1	c.13_15dup	NM_007248.4	NP_009179.2:p.(Ile5dup)	NC_000003.11:g.48508097_48508099dup	VUS	1 lab	a7ae48b76d
15:25585355 UBE3A TGAAC>T	15	25585355	25585361	TGAAC	T	UBE3A	c.2371_2374del	NM_130839.5	NP_570854.1:p.(Val791IlefsTer26)	NC_000015.9:g.25585358_25585361del	(Likely) pathogenic	1 lab	a7af810dcc
7:5769106 RNF216 C>T	7	5769106	5769106	C	T	RNF216	c.1346G>A	NM_207111.3	NP_996994.1:p.(Trp449Ter)	NC_000007.13:g.5769106C>T	(Likely) pathogenic	1 lab	a7b0345f99
9:135772717 TSC1 G>A	9	135772717	135772717	G	A	TSC1	c.2829C>T	NM_000368.4	NP_000359.1:p.(Ala943=)	NC_000009.11:g.135772717G>A	(Likely) benign	1 lab	a7b0daef7e
3:130114278 COL6A5 C>T	3	130114278	130114278	C	T	COL6A5	c.3538C>T	NM_001278298.1	NP_001265227.1:p.(Arg1180Cys)	NC_000003.11:g.130114278C>T	VUS	1 lab	a7b1047c21
11:118959348 HMBS G>A	11	118959348	118959348	G	A	HMBS	c.91G>A	NM_000190.4	NP_000181.2:p.(Ala31Thr)	NC_000011.9:g.118959348G>A	(Likely) pathogenic	1 lab	a7b1a7c7e0
X:54956725 TRO G>A	X	54956725	54956725	G	A	TRO	c.3568G>A	NM_001039705.2	NP_001034794.1:p.(Gly1190Arg)	NC_000023.10:g.54956725G>A	VUS	1 lab	a7b443afbb
21:15561623 LIPI C>T	21	15561623	15561623	C	T	LIPI	c.227G>A	NM_198996.3	NP_945347.2:p.(Cys76Tyr)	NC_000021.8:g.15561623C>T	(Likely) benign	1 lab	a7b5748ba3
X:63411093 AMER1 C>T	X	63411093	63411093	C	T	AMER1	c.2074G>A	NM_152424.4	NP_689637.3:p.(Glu692Lys)	NC_000023.10:g.63411093C>T	(Likely) benign	1 lab	a7b799db8a
15:44943927 SPG11 G>C	15	44943927	44943927	G	C	SPG11	c.1218C>G	NM_025137.3	NP_079413.3:p.(Thr406=)	NC_000015.9:g.44943927G>C	(Likely) benign	1 lab	a7b79ac504
15:23891473 MAGEL2 G>A	15	23891473	23891473	G	A	MAGEL2	c.1417C>T	NM_019066.4	NP_061939.3:p.(Arg473Cys)	NC_000015.9:g.23891473G>A	VUS	1 lab	a7b7c39357
4:87653600 PTPN13 A>G	4	87653600	87653600	A	G	PTPN13	c.1656A>G	NM_080685.2	NP_542416.1:p.(Ile552Met)	NC_000004.11:g.87653600A>G	VUS	1 lab	a7b89e1c43
17:73658944 RECQL5 G>A	17	73658944	73658944	G	A	RECQL5	c.386C>T	NM_004259.6	NP_004250.4:p.(Thr129Ile)	NC_000017.10:g.73658944G>A	VUS	1 lab	a7bae57244
20:62632543 PRPF6 C>T	20	62632543	62632543	C	T	PRPF6	c.1137C>T	NM_012469.3	NP_036601.2:p.(Ala379=)	NC_000020.10:g.62632543C>T	(Likely) benign	1 lab	a7bbb63020
8:133941394 TG C>T	8	133941394	133941394	C	T	TG	c.4773C>T	NM_003235.4	NP_003226.4:p.(Ser1591=)	NC_000008.10:g.133941394C>T	(Likely) benign	1 lab	a7bbbf7787
16:70928402 HYDIN C>T	16	70928402	70928402	C	T	HYDIN	c.9198G>A	NM_001270974.2	NP_001257903.1:p.(Ala3066=)	NC_000016.9:g.70928402C>T	(Likely) benign	1 lab	a7bcae6d97
1:24131018 HMGCL A>G	1	24131018	24131018	A	G	HMGCL	c.751-3T>C	NM_000191.2	NP_000182.2:p.?	NC_000001.10:g.24131018A>G	(Likely) benign	1 lab	a7bcc0c2e1
6:158549238 SERAC1 C>T	6	158549238	158549238	C	T	SERAC1	c.917G>A	NM_032861.3	NP_116250.3:p.(Arg306Gln)	NC_000006.11:g.158549238C>T	(Likely) benign	1 lab	a7c39a4d7d
13:110859841 COL4A1 C>T	13	110859841	110859841	C	T	COL4A1	c.694-5G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110859841C>T	(Likely) benign	1 lab	a7c4040cb1
6:33131593 COL11A2 T>G	6	33131593	33131593	T	G	COL11A2	c.5073A>C	NM_080680.2	NP_542411.2:p.(Thr1691=)	NC_000006.11:g.33131593T>G	(Likely) benign	1 lab	a7c48cfffd
17:29556993 NF1 G>C	17	29556993	29556993	G	C	NF1	c.2990+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556993G>C	(Likely) pathogenic	1 lab	a7c6d5cb93
6:32006248 CYP21A2 C>G	6	32006248	32006248	C	G	CYP21A2	c.49C>G	NM_001128590.3	NP_001122062.3:p.(Arg17Gly)	NC_000006.11:g.32006248C>G	(Likely) benign	1 lab	a7c8827a82
15:62299572 VPS13C T>C	15	62299572	62299572	T	C	VPS13C	c.1225A>G	NM_001018088.2	NP_001018098.1:p.(Lys409Glu)	NC_000015.9:g.62299572T>C	VUS	1 lab	a7c96c5401
5:138160285 CTNNA1 C>T	5	138160285	138160285	C	T	CTNNA1	c.655C>T	NM_001323982.1	NP_001310911.1:p.(Pro219Ser)	NC_000005.9:g.138160285C>T	VUS	1 lab	a7cba2c58f
8:55533933 RP1 A>C	8	55533933	55533933	A	C	RP1	c.407A>C	NM_006269.1	NP_006260.1:p.(His136Pro)	NC_000008.10:g.55533933A>C	VUS	1 lab	a7cbec0c2b
10:30630472 MTPAP T>A	10	30630472	30630472	T	A	MTPAP	c.255A>T	NM_018109.3	NP_060579.3:p.(Lys85Asn)	NC_000010.10:g.30630472T>A	(Likely) benign	1 lab	a7cc1f8eb7
22:30067821 NF2 CG>C	22	30067821	30067823	CG	C	NF2	c.1008del	NM_000268.4	NP_000259.1:p.(Gln337SerfsTer9)	NC_000022.10:g.30067823del	(Likely) pathogenic	1 lab	a7cf5a6683
11:121485739 SORL1 G>A	11	121485739	121485739	G	A	SORL1	c.5579G>A	NM_003105.5	NP_003096.1:p.(Cys1860Tyr)	NC_000011.9:g.121485739G>A	VUS	1 lab	a7cfba5b9d
10:73537446 CDH23 C>A	10	73537446	73537446	C	A	CDH23	c.4855C>A	NM_022124.5	NP_071407.4:p.(His1619Asn)	NC_000010.10:g.73537446C>A	VUS	1 lab	a7d361fab1
8:144942224 EPPK1 G>A	8	144942224	144942224	G	A	EPPK1				NC_000008.10:g.144942224G>A	VUS	1 lab	a7d5b94e6b
1:160106111 ATP1A2 G>A	1	160106111	160106111	G	A	ATP1A2				NC_000001.10:g.160106111G>A	(Likely) benign	1 lab	a7d7f126e9
X:21675671 KLHL34 C>T	X	21675671	21675671	C	T	KLHL34	c.236G>A	NM_153270.2	NP_695002.1:p.(Gly79Asp)	NC_000023.10:g.21675671C>T	VUS	1 lab	a7d815f8cd
2:220502443 SLC4A3 G>A	2	220502443	220502443	G	A	SLC4A3	c.2757G>A	NM_001326559.1	NP_001313488.1:p.(Thr919=)	NC_000002.11:g.220502443G>A	(Likely) benign	1 lab	a7d8893253
1:1275510 DVL1 G>A	1	1275510	1275510	G	A	DVL1	c.817C>T	NM_001330311.2	NP_001317240.1:p.(Arg273Cys)	NC_000001.10:g.1275510G>A	(Likely) benign	1 lab	a7daa64685
1:226111391 PYCR2 C>A	1	226111391	226111391	C	A	PYCR2	c.138+10G>T	NM_013328.3	NP_037460.2:p.?	NC_000001.10:g.226111391C>A	(Likely) benign	1 lab	a7db0e7a5f
12:49446450 KMT2D G>A	12	49446450	49446450	G	A	KMT2D	c.1155C>T	NM_003482.3	NP_003473.3:p.(Pro385=)	NC_000012.11:g.49446450G>A	(Likely) benign	1 lab	a7db1b38fa
1:248224344 OR2L3 C>T	1	248224344	248224344	C	T	OR2L3	c.361C>T	NM_001004687.1	NP_001004687.1:p.(Arg121Cys)	NC_000001.10:g.248224344C>T	VUS	1 lab	a7dcf5c214
5:13786303 DNAH5 C>G	5	13786303	13786303	C	G	DNAH5	c.8805G>C	NM_001369.2	NP_001360.1:p.(Met2935Ile)	NC_000005.9:g.13786303C>G	VUS	1 lab	a7dcf60d9b
10:69957181 MYPN G>A	10	69957181	69957181	G	A	MYPN	c.3231G>A	NM_032578.3	NP_115967.2:p.(Gln1077=)	NC_000010.10:g.69957181G>A	(Likely) benign	1 lab	a7dd280d6b
2:44502978 SLC3A1 G>C	2	44502978	44502978	G	C	SLC3A1	c.304G>C	NM_000341.3	NP_000332.2:p.(Ala102Pro)	NC_000002.11:g.44502978G>C	VUS	1 lab	a7df6e4b69
17:44101348 MAPT C>T	17	44101348	44101348	C	T	MAPT	c.1137C>T	NM_005910.5	NP_005901.2:p.(Arg379=)	NC_000017.10:g.44101348C>T	(Likely) benign	1 lab	a7e08f59d2
17:29562657 NF1 T>C	17	29562657	29562657	T	C	NF1	c.3737T>C	NM_001042492.2	NP_001035957.1:p.(Leu1246Pro)	NC_000017.10:g.29562657T>C	VUS	1 lab	a7e12ddcba
14:105412103 AHNAK2 A>G	14	105412103	105412103	A	G	AHNAK2	c.9685T>C	NM_138420.3	NP_612429.2:p.(Leu3229=)	NC_000014.8:g.105412103A>G	(Likely) benign	1 lab	a7e1627d53
X:48054513 SSX5 G>A	X	48054513	48054513	G	A	SSX5	c.122C>T	NM_021015.3	NP_066295.3:p.(Pro41Leu)	NC_000023.10:g.48054513G>A	(Likely) benign	1 lab	a7e17b7d37
1:13111650 MISSING T>C	1	13111650	13111650	T	C	MISSING				NC_000001.10:g.13111650T>C	(Likely) benign	1 lab	a7e1a7c45d
X:8507785 ANOS1 G>A	X	8507785	8507785	G	A	ANOS1	c.1369C>T	NM_000216.3	NP_000207.2:p.(Arg457Ter)	NC_000023.10:g.8507785G>A	(Likely) pathogenic	1 lab	a7e34aa208
19:46057063 OPA3 C>G	19	46057063	46057063	C	G	OPA3	c.249G>C	NM_025136.4	NP_079412.1:p.(Leu83=)	NC_000019.9:g.46057063C>G	(Likely) benign	1 lab	3b5dc2124f
2:61632897 USP34 T>C	2	61632897	61632897	T	C	USP34	c.498A>G	NM_014709.3	NP_055524.3:p.(Gln166=)	NC_000002.11:g.61632897T>C	(Likely) benign	1 lab	a7e7a9d8fb
1:51439754 CDKN2C T>G	1	51439754	51439754	T	G	CDKN2C	c.319T>G	NM_001262.2	NP_001253.1:p.(Leu107Val)	NC_000001.10:g.51439754T>G	VUS	1 lab	a7e824c7bb
19:57723952 ZNF264 C>T	19	57723952	57723952	C	T	ZNF264	c.1487C>T	NM_003417.4	NP_003408.1:p.(Ser496Leu)	NC_000019.9:g.57723952C>T	VUS	1 lab	a7e86ce44a
7:5662579 RNF216 C>T	7	5662579	5662579	C	T	RNF216	c.2684G>A	NM_207111.3	NP_996994.1:p.(Arg895Gln)	NC_000007.13:g.5662579C>T	VUS	1 lab	a7ecfefb5c
19:30313358 CCNE1 C>G	19	30313358	30313358	C	G	CCNE1	c.958C>G	NM_001238.4	NP_001229.1:p.(Gln320Glu)	NC_000019.9:g.30313358C>G	VUS	1 lab	a7f25d2cc7
5:110074823 SLC25A46 G>A	5	110074823	110074823	G	A	SLC25A46	c.3G>A	NM_138773.3	NP_620128.1:p.(Met1?)	NC_000005.9:g.110074823G>A	(Likely) pathogenic	1 lab	a7f3c78b1a
2:109374972 RANBP2 G>C	2	109374972	109374972	G	C	RANBP2	c.2570G>C	NM_006267.4	NP_006258.3:p.(Gly857Ala)	NC_000002.11:g.109374972G>C	VUS	1 lab	a7f4428374
16:731595 STUB1 G>A	16	731595	731595	G	A	STUB1	c.300G>A	NM_001293197.1	NP_001280126.1:p.(Glu100=)	NC_000016.9:g.731595G>A	(Likely) benign	1 lab	a7f6dcf1b1
17:74729448 METTL23 TC>T	17	74729448	74729449	TC	T	METTL23	c.397del	NM_001080510.5	NP_001073979.3:p.(Gln133LysfsTer18)	NC_000017.10:g.74729449del	(Likely) pathogenic	1 lab	a7f8a82421
13:39420761 FREM2 G>A	13	39420761	39420761	G	A	FREM2	c.6071G>A	NM_207361.5	NP_997244.4:p.(Gly2024Asp)	NC_000013.10:g.39420761G>A	VUS	1 lab	a7fec3bf48
14:31355012 COCH G>A	14	31355012	31355012	G	A	COCH	c.1166G>A	NM_001347720.1	NP_001334649.1:p.(Arg389Gln)	NC_000014.8:g.31355012G>A	VUS	1 lab	a7ff8bf352
3:184034513 EIF4G1 T>G	3	184034513	184034513	T	G	EIF4G1	c.160T>G	NM_001194946.1	NP_001181875.1:p.(Ser54Ala)	NC_000003.11:g.184034513T>G	VUS	1 lab	a8004eac61
7:1479606 MICALL2 G>C	7	1479606	1479606	G	C	MICALL2	c.1921C>G	NM_182924.4	NP_891554.1:p.(Pro641Ala)	NC_000007.13:g.1479606G>C	(Likely) benign	1 lab	a801518bd6
12:40677813 LRRK2 G>T	12	40677813	40677813	G	T	LRRK2	c.2378G>T	NM_198578.3	NP_940980.3:p.(Arg793Met)	NC_000012.11:g.40677813G>T	(Likely) benign	1 lab	a8039aa036
19:12155287 ZNF878 G>C	19	12155287	12155287	G	C	ZNF878	c.929C>G	NM_001080404.2	NP_001073873.2:p.(Pro310Arg)	NC_000019.9:g.12155287G>C	VUS	1 lab	a804b0301e
17:41223081 BRCA1 G>A	17	41223081	41223081	G	A	BRCA1	c.4850C>T	NM_007294.3	NP_009225.1:p.(Ala1617Val)	NC_000017.10:g.41223081G>A	(Likely) benign	1 lab	a804e2ca33
4:6303871 WFS1 C>A	4	6303871	6303871	C	A	WFS1	c.2349C>A	NM_006005.3	NP_005996.2:p.(Phe783Leu)	NC_000004.11:g.6303871C>A	(Likely) benign	1 lab	a80602a8c8
9:123744145 C5 C>T	9	123744145	123744145	C	T	C5	c.3481G>A	NM_001317163.1	NP_001304092.1:p.(Ala1161Thr)	NC_000009.11:g.123744145C>T	(Likely) benign	1 lab	a80617d860
11:2193012 TH G>A	11	2193012	2193012	G	A	TH	c.5C>T	NM_199292.2	NP_954986.2:p.(Pro2Leu)	NC_000011.9:g.2193012G>A	VUS	1 lab	a807337f5a
16:53692330 RPGRIP1L A>C	16	53692330	53692330	A	C	RPGRIP1L	c.1397T>G	NM_015272.4	NP_056087.2:p.(Ile466Arg)	NC_000016.9:g.53692330A>C	VUS	1 lab	a807710b73
15:28096519 OCA2 G>A	15	28096519	28096519	G	A	OCA2	c.2338+9C>T	NM_000275.2	NP_000266.2:p.?	NC_000015.9:g.28096519G>A	(Likely) benign	1 lab	a807a32746
5:89985692 ADGRV1 A>G	5	89985692	89985692	A	G	ADGRV1	c.6505A>G	NM_032119.4	NP_115495.3:p.(Ile2169Val)	NC_000005.9:g.89985692A>G	VUS	1 lab	a807c0b6ad
12:13716783 GRIN2B C>T	12	13716783	13716783	C	T	GRIN2B	c.3389G>A	NM_000834.4	NP_000825.2:p.(Arg1130Gln)	NC_000012.11:g.13716783C>T	VUS	1 lab	a8080890f7
17:72954571 HID1 G>A	17	72954571	72954571	G	A	HID1	c.1243C>T	NM_030630.3	NP_085133.1:p.(Arg415Trp)	NC_000017.10:g.72954571G>A	VUS	1 lab	a8087a8e85
1:207504479 CD55 A>G	1	207504479	207504479	A	G	CD55	c.691A>G	NM_001114752.2	NP_001108224.1:p.(Ile231Val)	NC_000001.10:g.207504479A>G	VUS	1 lab	a80aed84f5
X:135080710 SLC9A6 G>A	X	135080710	135080710	G	A	SLC9A6	c.673G>A	NM_001042537.1	NP_001036002.1:p.(Val225Ile)	NC_000023.10:g.135080710G>A	(Likely) benign	1 lab	a80be3a5cd
17:44061060 MAPT C>T	17	44061060	44061060	C	T	MAPT	c.890C>T	NM_001123066.3	NP_001116538.2:p.(Ala297Val)	NC_000017.10:g.44061060C>T	(Likely) benign	1 lab	a80cb4d708
22:38120497 TRIOBP A>G	22	38120497	38120497	A	G	TRIOBP	c.1934A>G	NM_001039141.2	NP_001034230.1:p.(Gln645Arg)	NC_000022.10:g.38120497A>G	(Likely) benign	1 lab	a810c8b184
8:144995655 PLEC C>G	8	144995655	144995655	C	G	PLEC	c.8745G>C	NM_201380.3	NP_958782.1:p.(Lys2915Asn)	NC_000008.10:g.144995655C>G	VUS	1 lab	a81350d88f
X:18662634 RS1 C>G	X	18662634	18662634	C	G	RS1	c.438G>C	NM_000330.3	NP_000321.1:p.(Glu146Asp)	NC_000023.10:g.18662634C>G	VUS	1 lab	a813ef9df5
6:152751312 SYNE1 G>A	6	152751312	152751312	G	A	SYNE1	c.4723C>T	NM_182961.3	NP_892006.3:p.(Leu1575Phe)	NC_000006.11:g.152751312G>A	VUS	1 lab	a815069b26
2:21233962 APOB C>T	2	21233962	21233962	C	T	APOB	c.5778G>A	NM_000384.2	NP_000375.2:p.(Gln1926=)	NC_000002.11:g.21233962C>T	(Likely) benign	1 lab	a81553c698
1:152278662 FLG A>G	1	152278662	152278662	A	G	FLG	c.8700T>C	NM_002016.1	NP_002007.1:p.(His2900=)	NC_000001.10:g.152278662A>G	(Likely) benign	1 lab	a81773436e
2:219855100 CRYBA2 T>C	2	219855100	219855100	T	C	CRYBA2	c.468A>G	NM_057093.2	NP_476434.1:p.(Pro156=)	NC_000002.11:g.219855100T>C	(Likely) benign	1 lab	a81837c2d7
X:139865906 CDR1 G>GA	X	139865906	139865912	G	GA	CDR1	c.625dup	NM_004065.2	NP_004056.2:p.(Ser209PhefsTer17)	NC_000023.10:g.139865912dup	VUS	1 lab	a81894b40c
16:2159411 PKD1 G>A	16	2159411	2159411	G	A	PKD1	c.5757C>T	NM_001009944.2	NP_001009944.2:p.(Phe1919=)	NC_000016.9:g.2159411G>A	(Likely) benign	1 lab	a818cbc035
X:138642995 F9 T>C	X	138642995	138642995	T	C	F9	c.819T>C	NM_000133.3	NP_000124.1:p.(Val273=)	NC_000023.10:g.138642995T>C	(Likely) benign	1 lab	a81a26eb18
4:88535389 DSPP C>T	4	88535389	88535389	C	T	DSPP	c.1575C>T	NM_014208.3	NP_055023.2:p.(Asp525=)	NC_000004.11:g.88535389C>T	(Likely) benign	1 lab	a81a9bf7b5
9:26980615 IFT74 T>C	9	26980615	26980615	T	C	IFT74	c.303T>C	NM_001349928.1	NP_001336857.1:p.(Leu101=)	NC_000009.11:g.26980615T>C	(Likely) benign	1 lab	a81c0aec62
15:28370275 HERC2 G>A	15	28370275	28370275	G	A	HERC2	c.12867C>T	NM_004667.5	NP_004658.3:p.(Ile4289=)	NC_000015.9:g.28370275G>A	(Likely) benign	1 lab	a81c47c6df
22:50659047 TUBGCP6 G>A	22	50659047	50659047	G	A	TUBGCP6	c.3741C>T	NM_020461.3	NP_065194.2:p.(Asp1247=)	NC_000022.10:g.50659047G>A	(Likely) benign	1 lab	a8275a380a
15:100537739 ADAMTS17 G>A	15	100537739	100537739	G	A	ADAMTS17	c.2647C>T	NM_139057.3	NP_620688.2:p.(His883Tyr)	NC_000015.9:g.100537739G>A	VUS	1 lab	a81cdd60fa
1:196876529 CFHR4 T>A	1	196876529	196876529	T	A	CFHR4	c.700T>A	NM_001201550.3	NP_001188479.1:p.(Ser234Thr)	NC_000001.10:g.196876529T>A	VUS	1 lab	a81da24b58
17:29559182 NF1 G>T	17	29559182	29559182	G	T	NF1	c.3289G>T	NM_000267.3	NP_000258.1:p.(Glu1097Ter)	NC_000017.10:g.29559182G>T	(Likely) pathogenic	1 lab	a81dcac466
14:23897085 MYH7 T>C	14	23897085	23897085	T	C	MYH7	c.1597A>G	NM_000257.2	NP_000248.2:p.(Ile533Val)	NC_000014.8:g.23897085T>C	VUS	1 lab	a81f28fdf5
14:102505189 DYNC1H1 G>T	14	102505189	102505189	G	T	DYNC1H1	c.11206+4G>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102505189G>T	(Likely) benign	1 lab	a8202a73ec
17:71197677 COG1 C>T	17	71197677	71197677	C	T	COG1	c.1711C>T	NM_018714.2	NP_061184.1:p.(Arg571Trp)	NC_000017.10:g.71197677C>T	VUS	1 lab	a8209ff170
6:119137144 MCM9 C>T	6	119137144	119137144	C	T	MCM9	c.2275G>A	NM_017696.2	NP_060166.2:p.(Val759Ile)	NC_000006.11:g.119137144C>T	(Likely) benign	1 lab	a820fbf92a
19:1221993 STK11 T>A	19	1221993	1221993	T	A	STK11	c.908T>A	NM_000455.4	NP_000446.1:p.(Ile303Asn)	NC_000019.9:g.1221993T>A	(Likely) pathogenic	1 lab	a823658123
7:1520077 INTS1 T>C	7	1520077	1520077	T	C	INTS1	c.3950A>G	NM_001080453.3	NP_001073922.2:p.(Asp1317Gly)	NC_000007.13:g.1520077T>C	VUS	1 lab	a8255f971b
9:127262864 NR5A1 C>T	9	127262864	127262864	C	T	NR5A1	c.375G>A	NM_004959.4	NP_004950.2:p.(Pro125=)	NC_000009.11:g.127262864C>T	(Likely) benign	1 lab	a825797753
18:77475031 CTDP1 C>T	18	77475031	77475031	C	T	CTDP1	c.1571C>T	NM_004715.4	NP_004706.3:p.(Pro524Leu)	NC_000018.9:g.77475031C>T	VUS	1 lab	a82657ac8a
5:127671145 FBN2 A>T	5	127671145	127671145	A	T	FBN2	c.3847+2T>A	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127671145A>T	(Likely) pathogenic	1 lab	a82779fc00
X:100169504 XKRX A>G	X	100169504	100169504	A	G	XKRX	c.1173T>C	NM_212559.2	NP_997724.2:p.(Tyr391=)	NC_000023.10:g.100169504A>G	(Likely) benign	1 lab	a827c1523c
16:2138130 TSC2 T>C	16	2138130	2138130	T	C	TSC2	c.5150T>C	NM_000548.3	NP_000539.2:p.(Leu1717Pro)	NC_000016.9:g.2138130T>C	(Likely) pathogenic	1 lab	a8282bf5b3
10:124221413 HTRA1 C>G	10	124221413	124221413	C	G	HTRA1	c.245C>G	NM_002775.4	NP_002766.1:p.(Pro82Arg)	NC_000010.10:g.124221413C>G	VUS	1 lab	a828a7977e
11:1031937 MUC6 C>T	11	1031937	1031937	C	T	MUC6	c.232G>A	NM_005961.2	NP_005952.2:p.(Ala78Thr)	NC_000011.9:g.1031937C>T	(Likely) benign	1 lab	a828fb15b9
7:21726817 DNAH11 C>G	7	21726817	21726817	C	G	DNAH11				NC_000007.13:g.21726817C>G	VUS	1 lab	a82b2ac957
6:1612330 FOXC1 T>C	6	1612330	1612330	T	C	FOXC1	c.1650T>C	NM_001453.3	NP_001444.2:p.(Cys550=)	NC_000006.11:g.1612330T>C	(Likely) benign	1 lab	a82c122c39
16:2131735 TSC2 C>G	16	2131735	2131735	C	G	TSC2	c.3750C>G	NM_000548.3	NP_000539.2:p.(Tyr1250Ter)	NC_000016.9:g.2131735C>G	(Likely) pathogenic	1 lab	a82d016e64
2:212248626 ERBB4 T>C	2	212248626	212248626	T	C	ERBB4	c.3641A>G	NM_005235.2	NP_005226.1:p.(Asn1214Ser)	NC_000002.11:g.212248626T>C	(Likely) benign	1 lab	a82dbad615
7:94057161 COL1A2 C>T	7	94057161	94057161	C	T	COL1A2	c.3490C>T	NM_000089.3	NP_000080.2:p.(Arg1164Cys)	NC_000007.13:g.94057161C>T	VUS	1 lab	a82ea27a66
8:21984932 HR A>C	8	21984932	21984932	A	C	HR	c.1023T>G	NM_005144.4	NP_005135.2:p.(Cys341Trp)	NC_000008.10:g.21984932A>C	VUS	1 lab	a839ed13ff
X:24382859 SUPT20HL1 G>C	X	24382859	24382859	G	C	SUPT20HL1	c.2060G>C	NM_001136234.2	NP_001129706.2:p.(Gly687Ala)	NC_000023.10:g.24382859G>C	(Likely) benign	1 lab	a82ec849e4
11:72028172 CLPB G>A	11	72028172	72028172	G	A	CLPB	c.921C>T	NM_001258394.2	NP_001245323.1:p.(Ser307=)	NC_000011.9:g.72028172G>A	(Likely) benign	1 lab	a82f16113f
9:117797570 TNC C>T	9	117797570	117797570	C	T	TNC	c.5700G>A	NM_002160.3	NP_002151.2:p.(Ser1900=)	NC_000009.11:g.117797570C>T	(Likely) benign	1 lab	a8315038b2
6:152722356 SYNE1 T>C	6	152722356	152722356	T	C	SYNE1	c.6946A>G	NM_182961.3	NP_892006.3:p.(Ile2316Val)	NC_000006.11:g.152722356T>C	(Likely) benign	1 lab	a8325bd5f7
1:6038466 NPHP4 A>G	1	6038466	6038466	A	G	NPHP4	c.143T>C	NM_015102.4	NP_055917.1:p.(Leu48Pro)	NC_000001.10:g.6038466A>G	VUS	1 lab	a8325c4dae
17:29483022 NF1 C>T	17	29483022	29483022	C	T	NF1	c.82C>T	NM_000267.3	NP_000258.1:p.(Gln28Ter)	NC_000017.10:g.29483022C>T	(Likely) pathogenic	1 lab	a8327ca4bb
1:93301743 RPL5 A>G	1	93301743	93301743	A	G	RPL5	c.325-4A>G	NM_000969.5	NP_000960.2:p.?	NC_000001.10:g.93301743A>G	VUS	1 lab	a832d2802a
3:164777793 SI G>A	3	164777793	164777793	G	A	SI	c.1043C>T	NM_001041.3	NP_001032.2:p.(Pro348Leu)	NC_000003.11:g.164777793G>A	VUS	1 lab	a83420e614
17:29677318 NF1 A>G	17	29677318	29677318	A	G	NF1	c.7376A>G	NM_000267.3	NP_000258.1:p.(His2459Arg)	NC_000017.10:g.29677318A>G	VUS	1 lab	a83583d61a
13:103514724 ERCC5 G>A	13	103514724	103514724	G	A	ERCC5	c.1225G>A	NM_000123.3	NP_000114.2:p.(Val409Met)	NC_000013.10:g.103514724G>A	(Likely) benign	1 lab	a836bd50d2
5:171384691 FBXW11 T>C	5	171384691	171384691	T	C	FBXW11	c.57A>G	NM_012300.2	NP_036432.2:p.(Pro19=)	NC_000005.9:g.171384691T>C	(Likely) benign	1 lab	a8371f6f39
1:45797174 MUTYH T>C	1	45797174	45797174	T	C	MUTYH	c.1241A>G	NM_001128425.1	NP_001121897.1:p.(Gln414Arg)	NC_000001.10:g.45797174T>C	VUS	1 lab	a83b62f37c
11:118971734 DPAGT1 G>A	11	118971734	118971734	G	A	DPAGT1	c.276C>T	NM_001382.3	NP_001373.2:p.(His92=)	NC_000011.9:g.118971734G>A	(Likely) benign	1 lab	a83def7f72
1:20966495 PINK1 C>T	1	20966495	20966495	C	T	PINK1	c.776+10C>T	NM_032409.2	NP_115785.1:p.?	NC_000001.10:g.20966495C>T	(Likely) benign	1 lab	a83e29912d
9:35397690 UNC13B A>G	9	35397690	35397690	A	G	UNC13B	c.3488A>G	NM_006377.3	NP_006368.3:p.(Tyr1163Cys)	NC_000009.11:g.35397690A>G	VUS	1 lab	a83e2ce5e6
1:3102843 PRDM16 G>A	1	3102843	3102843	G	A	PRDM16	c.192G>A	NM_022114.3	NP_071397.3:p.(Glu64=)	NC_000001.10:g.3102843G>A	(Likely) benign	1 lab	a83ec91571
19:4818211 TICAM1 G>C	19	4818211	4818211	G	C	TICAM1	c.179C>G	NM_182919.3	NP_891549.1:p.(Ser60Cys)	NC_000019.9:g.4818211G>C	(Likely) benign	1 lab	a841fe2f8b
17:78175668 CARD14 C>T	17	78175668	78175668	C	T	CARD14	c.1977C>T	NM_001366385.1	NP_001353314.1:p.(Asp659=)	NC_000017.10:g.78175668C>T	VUS	1 lab	a8440ca616
1:78399084 NEXN C>T	1	78399084	78399084	C	T	NEXN	c.1171C>T	NM_144573.3	NP_653174.3:p.(Arg391Ter)	NC_000001.10:g.78399084C>T	VUS	1 lab	a8450f13f0
5:77406117 AP3B1 C>T	5	77406117	77406117	C	T	AP3B1	c.2164G>A	NM_001271769.1	NP_001258698.1:p.(Glu722Lys)	NC_000005.9:g.77406117C>T	VUS	1 lab	a84529cdcc
19:8206916 FBN3 C>T	19	8206916	8206916	C	T	FBN3	c.647G>A	NM_032447.5	NP_115823.3:p.(Arg216His)	NC_000019.9:g.8206916C>T	VUS	1 lab	a8454b3c6d
X:9000397 FAM9B G>T	X	9000397	9000397	G	T	FAM9B	c.134C>A	NM_205849.3	NP_995321.1:p.(Thr45Lys)	NC_000023.10:g.9000397G>T	(Likely) benign	1 lab	a845770664
17:29563007 NF1 G>A	17	29563007	29563007	G	A	NF1	c.3942G>A	NM_000267.3	NP_000258.1:p.(Trp1314Ter)	NC_000017.10:g.29563007G>A	(Likely) pathogenic	1 lab	a845f16bec
5:13870976 DNAH5 C>T	5	13870976	13870976	C	T	DNAH5	c.3734G>A	NM_001369.2	NP_001360.1:p.(Arg1245His)	NC_000005.9:g.13870976C>T	VUS	1 lab	a84638e7b1
20:62325714 RTEL1 CTCT>C	20	62325714	62325719	CTCT	C	RTEL1	c.2993-8_2993-6del	NM_001283009.2	NP_001269938.1:p.?	NC_000020.10:g.62325717_62325719del	(Likely) benign	1 lab	a846a0d5c9
22:40814662 MRTFA C>T	22	40814662	40814662	C	T	MRTFA				NC_000022.10:g.40814662C>T	(Likely) benign	1 lab	a8735c7a14
15:40939221 KNL1 A>C	15	40939221	40939221	A	C	KNL1	c.6121A>C	NM_170589.4	NP_733468.3:p.(Met2041Leu)	NC_000015.9:g.40939221A>C	VUS	1 lab	a8471f7137
9:140917781 CACNA1B G>A	9	140917781	140917781	G	A	CACNA1B	c.2586G>A	NM_000718.3	NP_000709.1:p.(Ala862=)	NC_000009.11:g.140917781G>A	(Likely) benign	1 lab	a847ff209a
16:88930698 PABPN1L GA>G	16	88930698	88930700	GA	G	PABPN1L	c.743del	NM_001080487.4	NP_001073956.2:p.(Phe248SerfsTer38)	NC_000016.9:g.88930700del	VUS	1 lab	a84b1e7a5a
17:62041916 SCN4A T>G	17	62041916	62041916	T	G	SCN4A	c.1364A>C	NM_000334.4	NP_000325.4:p.(Glu455Ala)	NC_000017.10:g.62041916T>G	VUS	1 lab	a84b6fb43f
12:110584775 IFT81 A>G	12	110584775	110584775	A	G	IFT81	c.963A>G	NM_014055.3	NP_054774.2:p.(Thr321=)	NC_000012.11:g.110584775A>G	(Likely) benign	1 lab	a84c98206f
12:68051937 DYRK2 C>T	12	68051937	68051937	C	T	DYRK2	c.1250C>T	NM_006482.2	NP_006473.2:p.(Thr417Met)	NC_000012.11:g.68051937C>T	VUS	1 lab	a84ca1d5e4
2:179599287 TTN T>C	2	179599287	179599287	T	C	TTN	c.15264A>G	NM_001267550.1	NP_001254479.1:p.(Arg5088=)	NC_000002.11:g.179599287T>C	(Likely) benign	1 lab	a84dae8f8b
2:233348778 ECEL1 C>T	2	233348778	233348778	C	T	ECEL1	c.1340G>A	NM_004826.3	NP_004817.2:p.(Arg447His)	NC_000002.11:g.233348778C>T	(Likely) benign	1 lab	a84f6a1445
1:8045045 PARK7 A>G	1	8045045	8045045	A	G	PARK7	c.501A>G	NM_007262.4	NP_009193.2:p.(Ala167=)	NC_000001.10:g.8045045A>G	(Likely) benign	1 lab	a853990fb5
19:18277964 PIK3R2 C>G	19	18277964	18277964	C	G	PIK3R2	c.1584C>G	NM_005027.3	NP_005018.1:p.(Leu528=)	NC_000019.9:g.18277964C>G	(Likely) benign	1 lab	a8544b788f
1:51439640 CDKN2C A>G	1	51439640	51439640	A	G	CDKN2C	c.205A>G	NM_001262.2	NP_001253.1:p.(Thr69Ala)	NC_000001.10:g.51439640A>G	(Likely) benign	1 lab	a855cb557c
X:153138030 L1CAM C>T	X	153138030	153138030	C	T	L1CAM	c.197+17G>A	NM_000425.4	NP_000416.1:p.?	NC_000023.10:g.153138030C>T	(Likely) benign	1 lab	a8570abd06
7:33138930 RP9 T>C	7	33138930	33138930	T	C	RP9	c.302A>G	NM_203288.1	NP_976033.1:p.(Lys101Arg)	NC_000007.13:g.33138930T>C	VUS	1 lab	a85af1ea43
11:66335798 CTSF G>C	11	66335798	66335798	G	C	CTSF	c.160C>G	NM_003793.3	NP_003784.2:p.(Arg54Gly)	NC_000011.9:g.66335798G>C	(Likely) benign	1 lab	a85bee2679
16:2152109 PKD1 C>T	16	2152109	2152109	C	T	PKD1	c.9350G>A	NM_001009944.2	NP_001009944.2:p.(Arg3117His)	NC_000016.9:g.2152109C>T	(Likely) benign	1 lab	a85e3388d4
16:2104300 TSC2 G>T	16	2104300	2104300	G	T	TSC2	c.340G>T	NM_000548.3	NP_000539.2:p.(Glu114Ter)	NC_000016.9:g.2104300G>T	(Likely) pathogenic	1 lab	a85ee8a4df
7:130040003 CEP41 G>A	7	130040003	130040003	G	A	CEP41	c.850C>T	NM_018718.2	NP_061188.1:p.(Arg284Trp)	NC_000007.13:g.130040003G>A	VUS	1 lab	a86033e9f0
9:71836313 TJP2 C>T	9	71836313	71836313	C	T	TJP2	c.853C>T	NM_004817.4	NP_004808.2:p.(Arg285Cys)	NC_000009.11:g.71836313C>T	VUS	1 lab	a860b1d22c
2:179441946 TTN T>A	2	179441946	179441946	T	A	TTN	c.69116A>T	NM_001267550.1	NP_001254479.1:p.(Asp23039Val)	NC_000002.11:g.179441946T>A	VUS	1 lab	a8644928f3
12:57500045 STAT6 A>G	12	57500045	57500045	A	G	STAT6	c.609T>C	NM_001178078.1	NP_001171549.1:p.(Ile203=)	NC_000012.11:g.57500045A>G	(Likely) benign	1 lab	a8645ad917
1:224621619 WDR26 G>C	1	224621619	224621619	G	C	WDR26	c.189C>G	NM_025160.6	NP_079436.4:p.(Ala63=)	NC_000001.10:g.224621619G>C	(Likely) benign	1 lab	a86460ab36
9:6536154 GLDC C>T	9	6536154	6536154	C	T	GLDC	c.2748G>A	NM_000170.2	NP_000161.2:p.(Leu916=)	NC_000009.11:g.6536154C>T	(Likely) benign	1 lab	a86507bd6b
21:46929284 COL18A1 C>T	21	46929284	46929284	C	T	COL18A1	c.3255C>T	NM_130445.2	NP_569712.2:p.(Ala1085=)	NC_000021.8:g.46929284C>T	(Likely) benign	1 lab	a86539fd32
6:42936148 PEX6 G>C	6	42936148	42936148	G	C	PEX6	c.1568C>G	NM_000287.3	NP_000278.3:p.(Pro523Arg)	NC_000006.11:g.42936148G>C	VUS	1 lab	a871cf984d
2:96951047 SNRNP200 G>A	2	96951047	96951047	G	A	SNRNP200	c.4035C>T	NM_014014.4	NP_054733.2:p.(Asn1345=)	NC_000002.11:g.96951047G>A	(Likely) benign	1 lab	a8659e7738
7:151093101 WDR86 C>T	7	151093101	151093101	C	T	WDR86	c.487G>A	NM_001284260.1	NP_001271189.1:p.(Gly163Arg)	NC_000007.13:g.151093101C>T	(Likely) benign	1 lab	a86606d658
12:113355411 OAS1 G>A	12	113355411	113355411	G	A	OAS1	c.944G>A	NM_016816.3	NP_058132.2:p.(Gly315Asp)	NC_000012.11:g.113355411G>A	(Likely) benign	1 lab	a866d842ec
16:3900763 CREBBP G>A	16	3900763	3900763	G	A	CREBBP	c.333C>T	NM_004380.2	NP_004371.2:p.(Asn111=)	NC_000016.9:g.3900763G>A	(Likely) benign	1 lab	a86972d953
6:159029460 TMEM181 T>C	6	159029460	159029460	T	C	TMEM181	c.1180T>C	NM_020823.1	NP_065874.1:p.(Phe394Leu)	NC_000006.11:g.159029460T>C	VUS	1 lab	a86a8a5e54
X:128701305 OCRL T>G	X	128701305	128701305	T	G	OCRL	c.1431T>G	NM_000276.3	NP_000267.2:p.(Tyr477Ter)	NC_000023.10:g.128701305T>G	(Likely) pathogenic	1 lab	a86adc71b1
17:18043900 MYO15A G>A	17	18043900	18043900	G	A	MYO15A	c.5281G>A	NM_016239.3	NP_057323.3:p.(Val1761Ile)	NC_000017.10:g.18043900G>A	(Likely) benign	1 lab	a86b1b40fa
16:22546398 NPIPB5 C>T	16	22546398	22546398	C	T	NPIPB5	c.2094C>T	NM_001135865.1	NP_001129337.1:p.(Cys698=)	NC_000016.9:g.22546398C>T	(Likely) benign	1 lab	a86b1c3687
2:152490237 NEB G>A	2	152490237	152490237	G	A	NEB	c.9345C>T	NM_001271208.1	NP_001258137.1:p.(His3115=)	NC_000002.11:g.152490237G>A	(Likely) benign	1 lab	a86ed4491c
X:44401246 FUNDC1 T>C	X	44401246	44401246	T	C	FUNDC1	c.130A>G	NM_173794.3	NP_776155.1:p.(Met44Val)	NC_000023.10:g.44401246T>C	(Likely) benign	1 lab	a871320e0f
17:7490777 MPDU1 G>T	17	7490777	7490777	G	T	MPDU1	c.652G>T	NM_004870.3	NP_004861.2:p.(Val218Leu)	NC_000017.10:g.7490777G>T	(Likely) benign	1 lab	a873320ed4
9:134350462 PRRC2B G>A	9	134350462	134350462	G	A	PRRC2B	c.2946G>A	NM_013318.3	NP_037450.2:p.(Thr982=)	NC_000009.11:g.134350462G>A	(Likely) benign	1 lab	a875215553
3:52387202 DNAH1 G>A	3	52387202	52387202	G	A	DNAH1	c.3111G>A	NM_015512.4	NP_056327.4:p.(Ser1037=)	NC_000003.11:g.52387202G>A	(Likely) benign	1 lab	a875986673
12:124228472 ATP6V0A2 A>G	12	124228472	124228472	A	G	ATP6V0A2	c.1179A>G	NM_012463.3	NP_036595.2:p.(Glu393=)	NC_000012.11:g.124228472A>G	(Likely) benign	1 lab	a8760e0613
14:89341439 TTC8 A>G	14	89341439	89341439	A	G	TTC8	c.1417A>G	NM_144596.3	NP_653197.2:p.(Thr473Ala)	NC_000014.8:g.89341439A>G	(Likely) benign	1 lab	a87f4ce074
11:102826428 MMP13 G>A	11	102826428	102826428	G	A	MMP13	c.7C>T	NM_002427.3	NP_002418.1:p.(Pro3Ser)	NC_000011.9:g.102826428G>A	(Likely) benign	1 lab	a880168ae4
8:103306329 UBR5 T>C	8	103306329	103306329	T	C	UBR5	c.4203A>G	NM_015902.5	NP_056986.2:p.(Leu1401=)	NC_000008.10:g.103306329T>C	(Likely) benign	1 lab	a880c6e8e4
5:178410192 GRM6 G>A	5	178410192	178410192	G	A	GRM6	c.2155C>T	NM_000843.4	NP_000834.2:p.(Arg719Trp)	NC_000005.9:g.178410192G>A	(Likely) benign	1 lab	a8835ec6a9
14:105409858 AHNAK2 G>A	14	105409858	105409858	G	A	AHNAK2	c.11930C>T	NM_138420.3	NP_612429.2:p.(Ser3977Leu)	NC_000014.8:g.105409858G>A	VUS	1 lab	a883a1a9ed
3:196202132 RNF168 T>C	3	196202132	196202132	T	C	RNF168	c.732A>G	NM_152617.3	NP_689830.2:p.(Val244=)	NC_000003.11:g.196202132T>C	(Likely) benign	1 lab	a8847c792d
20:31375179 DNMT3B C>T	20	31375179	31375179	C	T	DNMT3B	c.576C>T	NM_006892.3	NP_008823.1:p.(Ala192=)	NC_000020.10:g.31375179C>T	(Likely) benign	1 lab	a885bba063
17:29509671 NF1 CAACATGA>C	17	29509671	29509679	CAACATGA	C	NF1	c.878_884del	NM_001042492.3	NP_001035957.1:p.(Asn293IlefsTer22)	NC_000017.10:g.29509673_29509679del	(Likely) pathogenic	1 lab	a888084aef
1:208255832 PLXNA2 T>A	1	208255832	208255832	T	A	PLXNA2	c.2320A>T	NM_025179.4	NP_079455.3:p.(Ile774Phe)	NC_000001.10:g.208255832T>A	(Likely) benign	1 lab	a888dcaea6
X:48762109 SLC35A2 G>A	X	48762109	48762109	G	A	SLC35A2	c.487C>T	NM_001032289.2	NP_001027460.1:p.(Arg163Cys)	NC_000023.10:g.48762109G>A	VUS	1 lab	a88b7058a8
3:52485432 TNNC1 G>A	3	52485432	52485432	G	A	TNNC1	c.429C>T	NM_003280.2	NP_003271.1:p.(Asn143=)	NC_000003.11:g.52485432G>A	VUS	1 lab	a88b8a40b2
16:2166907 PKD1 G>A	16	2166907	2166907	G	A	PKD1	c.1533C>T	NM_001009944.2	NP_001009944.2:p.(Leu511=)	NC_000016.9:g.2166907G>A	(Likely) benign	1 lab	a8908bd98a
4:126370549 FAT4 G>A	4	126370549	126370549	G	A	FAT4	c.8384G>A	NM_001291303.1	NP_001278232.1:p.(Arg2795His)	NC_000004.11:g.126370549G>A	VUS	1 lab	a890af2516
X:129149171 BCORL1 C>T	X	129149171	129149171	C	T	BCORL1	c.2423C>T	NM_001184772.2	NP_001171701.1:p.(Thr808Met)	NC_000023.10:g.129149171C>T	VUS	1 lab	a8922f5d18
10:88419213 OPN4 G>A	10	88419213	88419213	G	A	OPN4	c.821G>A	NM_001030015.2	NP_001025186.1:p.(Arg274Gln)	NC_000010.10:g.88419213G>A	VUS	1 lab	a8927ccfd0
2:86255015 POLR1A G>A	2	86255015	86255015	G	A	POLR1A	c.5055C>T	NM_015425.5	NP_056240.2:p.(Thr1685=)	NC_000002.11:g.86255015G>A	(Likely) benign	1 lab	a8942f4bff
17:29557373 NF1 T>C	17	29557373	29557373	T	C	NF1	c.3086T>C	NM_000267.3	NP_000258.1:p.(Leu1029Pro)	NC_000017.10:g.29557373T>C	VUS	1 lab	a894454030
15:101718374 CHSY1 C>T	15	101718374	101718374	C	T	CHSY1	c.1628G>A	NM_014918.4	NP_055733.2:p.(Arg543His)	NC_000015.9:g.101718374C>T	VUS	1 lab	a895ad1b60
6:3225135 TUBB2B G>C	6	3225135	3225135	G	C	TUBB2B	c.1188C>G	NM_178012.4	NP_821080.1:p.(His396Gln)	NC_000006.11:g.3225135G>C	(Likely) pathogenic	1 lab	a895c1ce02
9:140056492 GRIN1 G>A	9	140056492	140056492	G	A	GRIN1	c.1584G>A	NM_007327.3	NP_015566.1:p.(Glu528=)	NC_000009.11:g.140056492G>A	(Likely) benign	1 lab	a8988aaf50
16:89704597 DPEP1 C>T	16	89704597	89704597	C	T	DPEP1	c.1203C>T	NM_004413.3	NP_004404.1:p.(Leu401=)	NC_000016.9:g.89704597C>T	(Likely) benign	1 lab	a89893b109
X:66905946 AR T>C	X	66905946	66905946	T	C	AR	c.1863T>C	NM_000044.4	NP_000035.2:p.(Tyr621=)	NC_000023.10:g.66905946T>C	(Likely) benign	1 lab	a8997d870f
5:140075089 HARS2 T>C	5	140075089	140075089	T	C	HARS2	c.418-4T>C	NM_001363535.1	NP_001350464.1:p.?	NC_000005.9:g.140075089T>C	(Likely) benign	1 lab	a89af52d38
9:13221401 MPDZ T>C	9	13221401	13221401	T	C	MPDZ	c.846A>G	NM_001330637.1	NP_001317566.1:p.(Lys282=)	NC_000009.11:g.13221401T>C	(Likely) benign	1 lab	a89afb0693
6:131903781 ARG1 C>A	6	131903781	131903781	C	A	ARG1	c.510C>A	NM_001244438.1	NP_001231367.1:p.(Phe170Leu)	NC_000006.11:g.131903781C>A	(Likely) benign	1 lab	a89b3d395b
17:40695421 NAGLU A>C	17	40695421	40695421	A	C	NAGLU	c.1397A>C	NM_000263.3	NP_000254.2:p.(Asp466Ala)	NC_000017.10:g.40695421A>C	VUS	1 lab	a89b8871ef
9:139917424 ABCA2 C>G	9	139917424	139917424	C	G	ABCA2	c.334G>C	NM_212533.2	NP_997698.1:p.(Glu112Gln)	NC_000009.11:g.139917424C>G	VUS	1 lab	a89cd054e6
X:153008757 ABCD1 G>A	X	153008757	153008757	G	A	ABCD1	c.1948G>A	NM_000033.3	NP_000024.2:p.(Ala650Thr)	NC_000023.10:g.153008757G>A	(Likely) benign	1 lab	a89f74e9bc
11:20649632 SLC6A5 A>G	11	20649632	20649632	A	G	SLC6A5	c.1499+3A>G	NM_004211.4	NP_004202.3:p.?	NC_000011.9:g.20649632A>G	(Likely) benign	1 lab	a89fb574ff
X:27999042 DCAF8L1 T>G	X	27999042	27999042	T	G	DCAF8L1	c.410A>C	NM_001017930.1	NP_001017930.1:p.(Gln137Pro)	NC_000023.10:g.27999042T>G	(Likely) benign	1 lab	a8a281e420
10:73492014 CDH23 G>A	10	73492014	73492014	G	A	CDH23	c.3986G>A	NM_022124.5	NP_071407.4:p.(Gly1329Asp)	NC_000010.10:g.73492014G>A	VUS	1 lab	a8a2b6f2c8
10:17277210 VIM T>G	10	17277210	17277210	T	G	VIM	c.1051T>G	NM_003380.4	NP_003371.2:p.(Phe351Val)	NC_000010.10:g.17277210T>G	VUS	1 lab	a8a433b859
3:49662413 BSN C>T	3	49662413	49662413	C	T	BSN	c.230C>T	NM_003458.3	NP_003449.2:p.(Ser77Phe)	NC_000003.11:g.49662413C>T	(Likely) benign	1 lab	a8a4bbdd83
11:6578844 DNHD1 C>G	11	6578844	6578844	C	G	DNHD1	c.8319C>G	NM_144666.2	NP_653267.2:p.(Gly2773=)	NC_000011.9:g.6578844C>G	(Likely) benign	1 lab	a8aa6ac477
22:50967688 TYMP C>T	22	50967688	50967688	C	T	TYMP	c.294G>A	NM_001113756.2	NP_001107228.1:p.(Ser98=)	NC_000022.10:g.50967688C>T	(Likely) benign	1 lab	a8ab96b136
11:6662633 DCHS1 C>G	11	6662633	6662633	C	G	DCHS1				NC_000011.9:g.6662633C>G	VUS	1 lab	a8ac90044b
21:46321416 ITGB2 G>A	21	46321416	46321416	G	A	ITGB2	c.732C>T	NM_000211.3	NP_000202.2:p.(Ala244=)	NC_000021.8:g.46321416G>A	(Likely) benign	1 lab	a8ad114f20
7:87046733 ABCB4 C>A	7	87046733	87046733	C	A	ABCB4	c.2577G>T	NM_018849.2	NP_061337.1:p.(Leu859Phe)	NC_000007.13:g.87046733C>A	VUS	1 lab	a8ae783a25
19:1619401 TCF3 C>T	19	1619401	1619401	C	T	TCF3	c.1240G>A	NM_003200.5	NP_003191.1:p.(Asp414Asn)	NC_000019.9:g.1619401C>T	VUS	1 lab	a8af35dfdc
X:102974035 GLRA4 C>T	X	102974035	102974035	C	T	GLRA4	c.883G>A	NM_001172285.1	NP_001165756.1:p.(Val295Met)	NC_000023.10:g.102974035C>T	(Likely) benign	1 lab	a8afd44508
12:121164918 ACADS C>T	12	121164918	121164918	C	T	ACADS	c.136C>T	NM_000017.3	NP_000008.1:p.(Arg46Trp)	NC_000012.11:g.121164918C>T	(Likely) pathogenic	1 lab	a8b1137510
4:88536451 DSPP C>T	4	88536451	88536451	C	T	DSPP	c.2637C>T	NM_014208.3	NP_055023.2:p.(Ser879=)	NC_000004.11:g.88536451C>T	(Likely) benign	1 lab	a8b1186517
8:27319236 CHRNA2 G>A	8	27319236	27319236	G	A	CHRNA2	c.1500C>T	NM_000742.3	NP_000733.2:p.(Ile500=)	NC_000008.10:g.27319236G>A	(Likely) benign	1 lab	a8b1e78269
16:2136201 TSC2 G>GCGAGCTCGCCATC	16	2136201	2136215	G	GCGAGCTCGCCATC	TSC2	c.4672_4684dup	NM_000548.3	NP_000539.2:p.(Leu1562ArgfsTer8)	NC_000016.9:g.2136203_2136215dup	(Likely) pathogenic	1 lab	a8b3b85675
11:555740 LMNTD2 C>T	11	555740	555740	C	T	LMNTD2	c.1568G>A	NM_173573.3	NP_775844.2:p.(Arg523Lys)	NC_000011.9:g.555740C>T	(Likely) benign	1 lab	a8b691bff1
16:56531666 BBS2 C>T	16	56531666	56531666	C	T	BBS2	c.1786G>A	NM_031885.3	NP_114091.3:p.(Val596Met)	NC_000016.9:g.56531666C>T	VUS	1 lab	a8b72b549f
17:78082402 GAA C>T	17	78082402	78082402	C	T	GAA	c.1190C>T	NM_000152.3	NP_000143.2:p.(Pro397Leu)	NC_000017.10:g.78082402C>T	(Likely) pathogenic	1 lab	a8b813e267
7:107592624 LAMB1 C>T	7	107592624	107592624	C	T	LAMB1	c.3124G>A	NM_002291.2	NP_002282.2:p.(Gly1042Ser)	NC_000007.13:g.107592624C>T	VUS	1 lab	a8b93b63e4
11:20124808 NAV2 G>A	11	20124808	20124808	G	A	NAV2	c.6602G>A	NM_001244963.1	NP_001231892.1:p.(Arg2201His)	NC_000011.9:g.20124808G>A	VUS	1 lab	a8bac21e98
3:184038732 EIF4G1 G>C	3	184038732	184038732	G	C	EIF4G1	c.669G>C	NM_001194946.1	NP_001181875.1:p.(Glu223Asp)	NC_000003.11:g.184038732G>C	VUS	1 lab	a8bc7181d4
X:10535482 MID1 G>A	X	10535482	10535482	G	A	MID1	c.106C>T	NM_001347733.1	NP_001334662.1:p.(Arg36Cys)	NC_000023.10:g.10535482G>A	VUS	1 lab	a8bd580276
16:84050173 SLC38A8 G>A	16	84050173	84050173	G	A	SLC38A8	c.1113C>T	NM_001080442.2	NP_001073911.1:p.(Ile371=)	NC_000016.9:g.84050173G>A	(Likely) benign	1 lab	a8bdc3a7b8
19:18979795 GDF1 G>C	19	18979795	18979795	G	C	GDF1	c.730C>G	NM_001492.5	NP_001483.3:p.(Leu244Val)	NC_000019.9:g.18979795G>C	VUS	1 lab	a8be19fc38
6:35479963 TULP1 G>A	6	35479963	35479963	G	A	TULP1	c.184C>T	NM_003322.5	NP_003313.3:p.(Pro62Ser)	NC_000006.11:g.35479963G>A	VUS	1 lab	a8bf44dd95
3:150421316 ERICH6 C>A	3	150421316	150421316	C	A	ERICH6	c.370G>T	NM_152394.5	NP_689607.2:p.(Ala124Ser)	NC_000003.11:g.150421316C>A	(Likely) benign	1 lab	a8c02e9ba2
X:11316694 AMELX G>A	X	11316694	11316694	G	A	AMELX	c.213G>A	NM_182680.1	NP_872621.1:p.(Met71Ile)	NC_000023.10:g.11316694G>A	VUS	1 lab	a8c1c98499
11:22248962 ANO5 C>T	11	22248962	22248962	C	T	ANO5	c.478C>T	NM_213599.2	NP_998764.1:p.(Arg160Cys)	NC_000011.9:g.22248962C>T	(Likely) benign	1 lab	a8c291039a
8:10466739 RP1L1 G>T	8	10466739	10466739	G	T	RP1L1	c.4869C>A	NM_178857.5	NP_849188.4:p.(Thr1623=)	NC_000008.10:g.10466739G>T	(Likely) benign	1 lab	a8c2c91bc3
18:31319101 ASXL3 C>T	18	31319101	31319101	C	T	ASXL3	c.1733C>T	NM_030632.2	NP_085135.1:p.(Ser578Phe)	NC_000018.9:g.31319101C>T	VUS	1 lab	a8c369e0ac
5:70806573 BDP1 G>A	5	70806573	70806573	G	A	BDP1	c.3654G>A	NM_018429.2	NP_060899.2:p.(Lys1218=)	NC_000005.9:g.70806573G>A	(Likely) benign	1 lab	a8c3e45d41
4:178360821 AGA T>A	4	178360821	178360821	T	A	AGA	c.303A>T	NM_000027.3	NP_000018.2:p.(Ala101=)	NC_000004.11:g.178360821T>A	(Likely) benign	1 lab	a8c5b1dcda
14:23885335 MYH7 C>A	14	23885335	23885335	C	A	MYH7	c.4831G>T	NM_000257.4	NP_000248.2:p.(Ala1611Ser)	NC_000014.8:g.23885335C>A	VUS	1 lab	3bceec9753
12:133331371 ANKLE2 G>A	12	133331371	133331371	G	A	ANKLE2	c.530C>T	NM_015114.2	NP_055929.1:p.(Ser177Leu)	NC_000012.11:g.133331371G>A	(Likely) benign	1 lab	a8c6ab1865
19:42865142 MEGF8 G>C	19	42865142	42865142	G	C	MEGF8	c.5704G>C	NM_001271938.2	NP_001258867.1:p.(Gly1902Arg)	NC_000019.9:g.42865142G>C	VUS	1 lab	a8ca643510
16:89250005 CDH15 C>T	16	89250005	89250005	C	T	CDH15	c.407C>T	NM_004933.2	NP_004924.1:p.(Thr136Met)	NC_000016.9:g.89250005C>T	(Likely) benign	1 lab	a8ce4ed4b3
18:21511086 LAMA3 G>A	18	21511086	21511086	G	A	LAMA3	c.8497G>A	NM_198129.2	NP_937762.2:p.(Gly2833Ser)	NC_000018.9:g.21511086G>A	(Likely) benign	1 lab	a8cfff2c72
2:99008430 CNGA3 A>G	2	99008430	99008430	A	G	CNGA3	c.670A>G	NM_001298.2	NP_001289.1:p.(Thr224Ala)	NC_000002.11:g.99008430A>G	VUS	1 lab	a8d0077fe5
15:53081633 ONECUT1 G>C	15	53081633	53081633	G	C	ONECUT1	c.449C>G	NM_004498.3	NP_004489.1:p.(Thr150Arg)	NC_000015.9:g.53081633G>C	VUS	1 lab	a8d06e4355
10:81923853 ANXA11 C>T	10	81923853	81923853	C	T	ANXA11	c.905G>A	NM_145868.2	NP_665875.1:p.(Arg302His)	NC_000010.10:g.81923853C>T	VUS	1 lab	a8d0efa41b
X:153590679 FLNA G>A	X	153590679	153590679	G	A	FLNA	c.2587C>T	NM_001110556.2	NP_001104026.1:p.(Arg863Ter)	NC_000023.10:g.153590679G>A	(Likely) pathogenic	1 lab	a8d15ca0fa
X:64140107 ZC4H2 C>T	X	64140107	64140107	C	T	ZC4H2	c.183G>A	NM_001178032.2	NP_001171503.1:p.(Glu61=)	NC_000023.10:g.64140107C>T	(Likely) benign	1 lab	a8d2076a9e
1:152281180 FLG G>A	1	152281180	152281180	G	A	FLG	c.6182C>T	NM_002016.1	NP_002007.1:p.(Ala2061Val)	NC_000001.10:g.152281180G>A	(Likely) benign	1 lab	a8d5c4eb82
17:79514647 FAAP100 G>A	17	79514647	79514647	G	A	FAAP100	c.1461C>T	NM_025161.6	NP_079437.5:p.(Asn487=)	NC_000017.10:g.79514647G>A	(Likely) benign	1 lab	a8d6f9b157
16:420043 MRPL28 C>G	16	420043	420043	C	G	MRPL28	c.176G>C	NM_006428.4	NP_006419.2:p.(Arg59Pro)	NC_000016.9:g.420043C>G	(Likely) benign	1 lab	a8d744ca6d
5:122426150 PRDM6 C>G	5	122426150	122426150	C	G	PRDM6	c.441C>G	NM_001136239.3	NP_001129711.1:p.(Pro147=)	NC_000005.9:g.122426150C>G	(Likely) benign	1 lab	a8d77c8b26
6:152685995 SYNE1 T>G	6	152685995	152685995	T	G	SYNE1	c.10132A>C	NM_182961.3	NP_892006.3:p.(Ile3378Leu)	NC_000006.11:g.152685995T>G	VUS	1 lab	a8d86ba3b5
16:31288298 ITGAM T>C	16	31288298	31288298	T	C	ITGAM	c.1141T>C	NM_001145808.1	NP_001139280.1:p.(Tyr381His)	NC_000016.9:g.31288298T>C	(Likely) benign	1 lab	a8d91b4194
14:68273292 ZFYVE26 G>A	14	68273292	68273292	G	A	ZFYVE26	c.987C>T	NM_015346.3	NP_056161.2:p.(Ser329=)	NC_000014.8:g.68273292G>A	(Likely) benign	1 lab	a8d9661c18
16:12136892 SNX29 A>G	16	12136892	12136892	A	G	SNX29	c.386A>G	NM_032167.5	NP_115543.3:p.(Glu129Gly)	NC_000016.9:g.12136892A>G	VUS	1 lab	a8da47184d
7:35289569 TBX20 G>A	7	35289569	35289569	G	A	TBX20	c.374C>T	NM_001077653.2	NP_001071121.1:p.(Ser125Leu)	NC_000007.13:g.35289569G>A	VUS	1 lab	a8db0ea01a
15:48780654 FBN1 G>A	15	48780654	48780654	G	A	FBN1	c.3119C>T	NM_000138.4	NP_000129.3:p.(Thr1040Ile)	NC_000015.9:g.48780654G>A	VUS	1 lab	a8db26d805
2:179539056 TTN C>G	2	179539056	179539056	C	G	TTN	c.34693G>C	NM_001267550.1	NP_001254479.1:p.(Val11565Leu)	NC_000002.11:g.179539056C>G	VUS	1 lab	a8dc3fa100
2:179642022 TTN C>T	2	179642022	179642022	C	T	TTN	c.4668G>A	NM_001267550.1	NP_001254479.1:p.(Pro1556=)	NC_000002.11:g.179642022C>T	(Likely) benign	1 lab	a8de8243b5
11:57569457 CTNND1 C>T	11	57569457	57569457	C	T	CTNND1	c.1209C>T	NM_001085458.1	NP_001078927.1:p.(Asp403=)	NC_000011.9:g.57569457C>T	(Likely) benign	1 lab	a8e0b55d0e
5:176832373 F12 G>T	5	176832373	176832373	G	T	F12	c.348C>A	NM_000505.3	NP_000496.2:p.(Gly116=)	NC_000005.9:g.176832373G>T	(Likely) benign	1 lab	a8e1d7be98
19:877052 MED16 G>A	19	877052	877052	G	A	MED16	c.1482C>T	NM_005481.3	NP_005472.2:p.(His494=)	NC_000019.9:g.877052G>A	(Likely) benign	1 lab	a8e28dfa60
13:23949423 SACS G>A	13	23949423	23949423	G	A	SACS	c.21-15C>T	NM_014363.5	NP_055178.3:p.?	NC_000013.10:g.23949423G>A	(Likely) benign	1 lab	a8e2c1d4f3
1:207513981 CD55 C>T	1	207513981	207513981	C	T	CD55	c.1327C>T	NM_001300902.1	NP_001287831.1:p.(Arg443Ter)	NC_000001.10:g.207513981C>T	VUS	1 lab	a8e35453cb
X:131212069 FRMD7 T>A	X	131212069	131212069	T	A	FRMD7	c.1976A>T	NM_194277.2	NP_919253.1:p.(Lys659Ile)	NC_000023.10:g.131212069T>A	(Likely) benign	1 lab	a8e3574b44
6:35278355 DEF6 C>T	6	35278355	35278355	C	T	DEF6	c.357C>T	NM_022047.4	NP_071330.3:p.(Phe119=)	NC_000006.11:g.35278355C>T	(Likely) benign	1 lab	a8eac07f06
16:31471127 ARMC5 G>C	16	31471127	31471127	G	C	ARMC5	c.282G>C	NM_024742.2	NP_079018.1:p.(Ser94=)	NC_000016.9:g.31471127G>C	(Likely) benign	1 lab	a8e5f19526
19:9045629 MUC16 A>C	19	9045629	9045629	A	C	MUC16	c.36002T>G	NM_024690.2	NP_078966.2:p.(Leu12001Arg)	NC_000019.9:g.9045629A>C	(Likely) benign	1 lab	a8e6e929ab
9:101908876 TGFBR1 C>T	9	101908876	101908876	C	T	TGFBR1	c.1240C>T	NM_004612.3	NP_004603.1:p.(Arg414Ter)	NC_000009.11:g.101908876C>T	(Likely) pathogenic	1 lab	a8e86cd561
4:79176417 FRAS1 A>G	4	79176417	79176417	A	G	FRAS1	c.491A>G	NM_025074.7	NP_079350.5:p.(His164Arg)	NC_000004.11:g.79176417A>G	VUS	1 lab	a8e8c3f3b9
2:179640958 TTN C>T	2	179640958	179640958	C	T	TTN	c.5633G>A	NM_001267550.1	NP_001254479.1:p.(Gly1878Glu)	NC_000002.11:g.179640958C>T	VUS	1 lab	a8e8e24ec7
9:14759892 FREM1 G>T	9	14759892	14759892	G	T	FREM1	c.5212C>A	NM_144966.5	NP_659403.4:p.(Leu1738Met)	NC_000009.11:g.14759892G>T	VUS	1 lab	a8e9647693
2:69583698 GFPT1 G>A	2	69583698	69583698	G	A	GFPT1	c.544-9C>T	NM_001244710.1	NP_001231639.1:p.?	NC_000002.11:g.69583698G>A	(Likely) benign	1 lab	a8ea242de0
7:21603812 DNAH11 G>A	7	21603812	21603812	G	A	DNAH11				NC_000007.13:g.21603812G>A	VUS	1 lab	a9de82f0bc
19:40424352 FCGBP G>A	19	40424352	40424352	G	A	FCGBP	c.1851C>T	NM_003890.2	NP_003881.2:p.(Asp617=)	NC_000019.9:g.40424352G>A	(Likely) benign	1 lab	a8eae3d7e8
11:32449486 WT1 C>T	11	32449486	32449486	C	T	WT1				NC_000011.9:g.32449486C>T	(Likely) benign	1 lab	a8ecd8dd5f
3:25770675 NGLY1 G>A	3	25770675	25770675	G	A	NGLY1	c.1506C>T	NM_001145293.1	NP_001138765.1:p.(Gly502=)	NC_000003.11:g.25770675G>A	(Likely) benign	1 lab	a8ed0c3a11
2:175436933 WIPF1 G>C	2	175436933	175436933	G	C	WIPF1	c.600C>G	NM_001077269.1	NP_001070737.1:p.(Asn200Lys)	NC_000002.11:g.175436933G>C	VUS	1 lab	a8f39970ec
17:48267389 COL1A1 G>A	17	48267389	48267389	G	A	COL1A1	c.2532C>T	NM_000088.3	NP_000079.2:p.(Ala844=)	NC_000017.10:g.48267389G>A	(Likely) benign	1 lab	a8f4350e77
2:31595130 XDH C>T	2	31595130	31595130	C	T	XDH	c.1820G>A	NM_000379.3	NP_000370.2:p.(Arg607Gln)	NC_000002.11:g.31595130C>T	VUS	1 lab	a8f63d35a8
22:24129335 SMARCB1 G>C	22	24129335	24129335	G	C	SMARCB1	c.-22G>C	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24129335G>C	VUS	1 lab	a8f65f8b9f
11:608633 PHRF1 C>T	11	608633	608633	C	T	PHRF1	c.3177C>T	NM_001286581.2	NP_001273510.1:p.(Ser1059=)	NC_000011.9:g.608633C>T	(Likely) benign	1 lab	a8f6a1de03
17:1629467 WDR81 G>C	17	1629467	1629467	G	C	WDR81	c.1214G>C	NM_001163809.1	NP_001157281.1:p.(Arg405Pro)	NC_000017.10:g.1629467G>C	VUS	1 lab	a8f6ce3e20
13:21442809 XPO4 C>T	13	21442809	21442809	C	T	XPO4	c.101G>A	NM_022459.4	NP_071904.4:p.(Arg34His)	NC_000013.10:g.21442809C>T	VUS	1 lab	a8f6fe85da
16:72829468 ZFHX3 G>A	16	72829468	72829468	G	A	ZFHX3	c.7113C>T	NM_006885.3	NP_008816.3:p.(Ala2371=)	NC_000016.9:g.72829468G>A	(Likely) benign	1 lab	a8f7c17f4a
3:69987018 MITF G>A	3	69987018	69987018	G	A	MITF	c.349G>A	NM_001354607.1	NP_001341536.1:p.(Ala117Thr)	NC_000003.11:g.69987018G>A	VUS	1 lab	a8f8ae2ab7
16:1574608 IFT140 G>A	16	1574608	1574608	G	A	IFT140	c.3086C>T	NM_014714.3	NP_055529.2:p.(Ala1029Val)	NC_000016.9:g.1574608G>A	VUS	1 lab	a8f8cd21db
11:76894124 MYO7A C>T	11	76894124	76894124	C	T	MYO7A	c.3297C>T	NM_000260.3	NP_000251.3:p.(Pro1099=)	NC_000011.9:g.76894124C>T	(Likely) benign	1 lab	a8f90ae2a2
5:70805469 BDP1 T>C	5	70805469	70805469	T	C	BDP1	c.2550T>C	NM_018429.2	NP_060899.2:p.(Thr850=)	NC_000005.9:g.70805469T>C	(Likely) benign	1 lab	a8faeb5949
4:40245516 RHOH C>T	4	40245516	40245516	C	T	RHOH	c.510C>T	NM_001278359.1	NP_001265288.1:p.(Ala170=)	NC_000004.11:g.40245516C>T	(Likely) benign	1 lab	a8fbfafe96
19:18277923 PIK3R2 C>T	19	18277923	18277923	C	T	PIK3R2	c.1560-17C>T	NM_005027.3	NP_005018.1:p.?	NC_000019.9:g.18277923C>T	(Likely) benign	1 lab	a8fc0e84c1
17:29422358 NF1 C>T	17	29422358	29422358	C	T	NF1	c.31C>T	NM_000267.3	NP_000258.1:p.(Gln11Ter)	NC_000017.10:g.29422358C>T	(Likely) pathogenic	1 lab	a8fc23bdc6
10:78844463 KCNMA1 A>G	10	78844463	78844463	A	G	KCNMA1	c.1455T>C	NM_001014797.2	NP_001014797.1:p.(Asp485=)	NC_000010.10:g.78844463A>G	(Likely) benign	1 lab	a8fcb37692
6:99912508 USP45 GC>G	6	99912508	99912509	GC	G	USP45	c.1279del	NM_001346022.3	NP_001332951.1:p.(Ala427ProfsTer13)	NC_000006.11:g.99912509del	(Likely) pathogenic	1 lab	a8fd97adf5
3:52365180 DNAH1 G>C	3	52365180	52365180	G	C	DNAH1	c.888G>C	NM_015512.4	NP_056327.4:p.(Gln296His)	NC_000003.11:g.52365180G>C	(Likely) benign	1 lab	a8fdffb95b
16:11063097 CLEC16A T>C	16	11063097	11063097	T	C	CLEC16A	c.423T>C	NM_015226.2	NP_056041.1:p.(Tyr141=)	NC_000016.9:g.11063097T>C	(Likely) benign	1 lab	a8fe9a2c90
9:127262988 NR5A1 C>T	9	127262988	127262988	C	T	NR5A1	c.251G>A	NM_004959.4	NP_004950.2:p.(Arg84His)	NC_000009.11:g.127262988C>T	(Likely) pathogenic	1 lab	a8ffac3146
X:114425876 RBMXL3 C>T	X	114425876	114425876	C	T	RBMXL3	c.1872C>T	NM_001145346.1	NP_001138818.1:p.(Tyr624=)	NC_000023.10:g.114425876C>T	(Likely) benign	1 lab	a9004845d1
10:122630836 WDR11 G>C	10	122630836	122630836	G	C	WDR11	c.1449G>C	NM_018117.11	NP_060587.8:p.(Met483Ile)	NC_000010.10:g.122630836G>C	(Likely) benign	1 lab	a903aac2c1
17:44067279 MAPT T>C	17	44067279	44067279	T	C	MAPT	c.1218T>C	NM_001123066.3	NP_001116538.2:p.(Asn406=)	NC_000017.10:g.44067279T>C	(Likely) benign	1 lab	a9041284c3
9:676981 KANK1 C>T	9	676981	676981	C	T	KANK1	c.9C>T	NM_001256877.2	NP_001243806.1:p.(His3=)	NC_000009.11:g.676981C>T	(Likely) benign	1 lab	a90421a769
20:62129024 EEF1A2 G>A	20	62129024	62129024	G	A	EEF1A2	c.93C>T	NM_001958.3	NP_001949.1:p.(Cys31=)	NC_000020.10:g.62129024G>A	(Likely) benign	1 lab	a904779bb4
4:114277605 ANK2 T>C	4	114277605	114277605	T	C	ANK2	c.7831T>C	NM_001148.4	NP_001139.3:p.(Tyr2611His)	NC_000004.11:g.114277605T>C	(Likely) benign	1 lab	a905b373aa
17:18233949 SHMT1 C>T	17	18233949	18233949	C	T	SHMT1	c.1091G>A	NM_004169.4	NP_004160.3:p.(Arg364His)	NC_000017.10:g.18233949C>T	VUS	1 lab	a9068075de
16:53686639 RPGRIP1L C>T	16	53686639	53686639	C	T	RPGRIP1L	c.1960G>A	NM_015272.4	NP_056087.2:p.(Glu654Lys)	NC_000016.9:g.53686639C>T	(Likely) benign	1 lab	a907fb96c2
17:29586100 NF1 GCG>TCC	17	29586100	29586102	GCG	TCC	NF1	c.4320_4322delinsTCC	NM_000267.3	NP_000258.1:p.(Met1440_Arg1441delinsIlePro)	NC_000017.10:g.29586100_29586102delinsTCC	(Likely) pathogenic	1 lab	a90891bb3c
8:48792167 PRKDC A>T	8	48792167	48792167	A	T	PRKDC	c.5120T>A	NM_006904.6	NP_008835.5:p.(Leu1707Gln)	NC_000008.10:g.48792167A>T	VUS	1 lab	a90a87625d
17:29483119 NF1 CTAT>C	17	29483119	29483123	CTAT	C	NF1	c.181_183del	NM_001042492.3	NP_001035957.1:p.(Ile61del)	NC_000017.10:g.29483121_29483123del	VUS	1 lab	a90b14c7d8
17:20799246 CCDC144NL C>T	17	20799246	20799246	C	T	CCDC144NL	c.88G>A	NM_001004306.2	NP_001004306.1:p.(Gly30Arg)	NC_000017.10:g.20799246C>T	VUS	1 lab	a90eaf5010
19:45920156 ERCC1 C>T	19	45920156	45920156	C	T	ERCC1	c.526-1G>A	NM_001983.3	NP_001974.1:p.?	NC_000019.9:g.45920156C>T	(Likely) pathogenic	1 lab	a9108c645b
4:862411 GAK G>C	4	862411	862411	G	C	GAK	c.2311C>G	NM_005255.4	NP_005246.2:p.(Pro771Ala)	NC_000004.11:g.862411G>C	(Likely) benign	1 lab	a9118df3d2
X:71813062 PHKA1 T>C	X	71813062	71813062	T	C	PHKA1	c.3135A>G	NM_002637.3	NP_002628.2:p.(Ser1045=)	NC_000023.10:g.71813062T>C	(Likely) benign	1 lab	a9166db0c9
19:13198853 NFIX G>A	19	13198853	13198853	G	A	NFIX	c.1329G>A	NM_001271043.2	NP_001257972.1:p.(Pro443=)	NC_000019.9:g.13198853G>A	(Likely) benign	1 lab	a916df173c
1:43392796 SLC2A1 G>A	1	43392796	43392796	G	A	SLC2A1	c.1395C>T	NM_006516.3	NP_006507.2:p.(Ser465=)	NC_000001.10:g.43392796G>A	(Likely) benign	1 lab	a91869577d
17:29490255 NF1 C>T	17	29490255	29490255	C	T	NF1	c.340C>T	NM_000267.3	NP_000258.1:p.(Leu114=)	NC_000017.10:g.29490255C>T	(Likely) benign	1 lab	a918d0dd68
11:121028561 TECTA A>C	11	121028561	121028561	A	C	TECTA	c.4317A>C	NM_005422.2	NP_005413.2:p.(Leu1439=)	NC_000011.9:g.121028561A>C	(Likely) benign	1 lab	a91990f132
15:40916461 KNL1 C>T	15	40916461	40916461	C	T	KNL1	c.4077C>T	NM_170589.4	NP_733468.3:p.(Cys1359=)	NC_000015.9:g.40916461C>T	(Likely) benign	1 lab	a919d71d76
10:123278248 FGFR2 A>G	10	123278248	123278248	A	G	FGFR2	c.1035T>C	NM_022970.3	NP_075259.4:p.(Tyr345=)	NC_000010.10:g.123278248A>G	(Likely) benign	1 lab	a91a564999
14:102904413 TECPR2 G>A	14	102904413	102904413	G	A	TECPR2	c.2449G>A	NM_014844.4	NP_055659.2:p.(Val817Met)	NC_000014.8:g.102904413G>A	VUS	1 lab	a91a835211
11:6643638 DCHS1 T>A	11	6643638	6643638	T	A	DCHS1				NC_000011.9:g.6643638T>A	VUS	1 lab	a91bc11dd8
6:70964698 COL9A1 G>A	6	70964698	70964698	G	A	COL9A1	c.1633C>T	NM_001851.4	NP_001842.3:p.(Arg545Cys)	NC_000006.11:g.70964698G>A	VUS	1 lab	a91c1c0668
1:874497 SAMD11 G>A	1	874497	874497	G	A	SAMD11	c.508G>A	NM_152486.3	NP_689699.2:p.(Glu170Lys)	NC_000001.10:g.874497G>A	(Likely) benign	1 lab	a92060fd34
16:2122823 TSC2 G>GGT	16	2122823	2122825	G	GGT	TSC2	c.2221-26_2221-25dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122824_2122825dup	(Likely) benign	1 lab	a921267e11
9:124088858 GSN C>T	9	124088858	124088858	C	T	GSN	c.1485C>T	NM_001353053.1	NP_001339982.1:p.(Ile495=)	NC_000009.11:g.124088858C>T	(Likely) benign	1 lab	a922271846
21:35153814 ITSN1 A>G	21	35153814	35153814	A	G	ITSN1	c.1646A>G	NM_001331010.1	NP_001317939.1:p.(Asn549Ser)	NC_000021.8:g.35153814A>G	(Likely) benign	1 lab	a922780aac
2:27322371 KHK C>T	2	27322371	27322371	C	T	KHK	c.737C>T	NM_000221.2	NP_000212.1:p.(Pro246Leu)	NC_000002.11:g.27322371C>T	VUS	1 lab	a922849bdf
12:76786406 OSBPL8 T>C	12	76786406	76786406	T	C	OSBPL8	c.758A>G	NM_001319652.1	NP_001306581.1:p.(Tyr253Cys)	NC_000012.11:g.76786406T>C	VUS	1 lab	a923426eb9
11:6414930 SMPD1 C>T	11	6414930	6414930	C	T	SMPD1	c.419+7C>T	NM_001318088.1	NP_001305017.1:p.?	NC_000011.9:g.6414930C>T	(Likely) benign	1 lab	a92452ea82
19:15272106 NOTCH3 G>A	19	15272106	15272106	G	A	NOTCH3	c.6333C>T	NM_000435.2	NP_000426.2:p.(Phe2111=)	NC_000019.9:g.15272106G>A	(Likely) benign	1 lab	a92483d8e2
4:15575920 CC2D2A C>CTGGT	4	15575920	15575925	C	CTGGT	CC2D2A	c.3744_3747dup	NM_001080522.2	NP_001073991.2:p.(Pro1250GlyfsTer11)	NC_000004.11:g.15575922_15575925dup	(Likely) pathogenic	1 lab	a924ed8e8f
9:135786867 TSC1 C>T	9	135786867	135786867	C	T	TSC1	c.1002G>A	NM_000368.4	NP_000359.1:p.(Ser334=)	NC_000009.11:g.135786867C>T	(Likely) benign	1 lab	a9252aad82
9:134394343 POMT1 G>A	9	134394343	134394343	G	A	POMT1	c.1485G>A	NM_001136113.1	NP_001129585.1:p.(Ala495=)	NC_000009.11:g.134394343G>A	(Likely) benign	1 lab	a925c70b02
X:79932337 BRWD3 C>T	X	79932337	79932337	C	T	BRWD3	c.5180G>A	NM_153252.4	NP_694984.4:p.(Arg1727His)	NC_000023.10:g.79932337C>T	VUS	1 lab	a9275500b9
17:42426883 GRN C>T	17	42426883	42426883	C	T	GRN	c.228C>T	NM_002087.2	NP_002078.1:p.(Thr76=)	NC_000017.10:g.42426883C>T	(Likely) benign	1 lab	a92a79731d
5:13781084 DNAH5 G>A	5	13781084	13781084	G	A	DNAH5	c.8821-16C>T	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13781084G>A	(Likely) benign	1 lab	a92ab1a405
12:33030829 PKP2 TTCC>A	12	33030829	33030832	TTCC	A	PKP2	c.982_985delinsT	NM_004572.3	NP_004563.2:p.(Gly328_Ser329delinsCys)	NC_000012.11:g.33030829_33030832delinsA	VUS	1 lab	a92d30df92
19:36224317 KMT2B G>A	19	36224317	36224317	G	A	KMT2B	c.6867G>A	NM_014727.2	NP_055542.1:p.(Pro2289=)	NC_000019.9:g.36224317G>A	(Likely) benign	1 lab	a930158594
2:179466246 TTN C>T	2	179466246	179466246	C	T	TTN	c.55478G>A	NM_001267550.1	NP_001254479.1:p.(Arg18493Lys)	NC_000002.11:g.179466246C>T	VUS	1 lab	a930480f24
X:153220093 HCFC1 G>A	X	153220093	153220093	G	A	HCFC1	c.3757C>T	NM_005334.2	NP_005325.2:p.(Arg1253Cys)	NC_000023.10:g.153220093G>A	(Likely) benign	1 lab	a9323557eb
17:29586149 NF1 T>G	17	29586149	29586149	T	G	NF1	c.4367+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29586149T>G	(Likely) pathogenic	1 lab	a93444fe77
5:55237120 IL6ST T>C	5	55237120	55237120	T	C	IL6ST	c.2547A>G	NM_002184.4	NP_002175.2:p.(Lys849=)	NC_000005.9:g.55237120T>C	(Likely) benign	1 lab	a935619d00
17:7906636 GUCY2D G>C	17	7906636	7906636	G	C	GUCY2D	c.271G>C	NM_000180.3	NP_000171.1:p.(Ala91Pro)	NC_000017.10:g.7906636G>C	(Likely) benign	1 lab	a937a97b97
11:36597870 RAG1 A>G	11	36597870	36597870	A	G	RAG1	c.3016A>G	NM_000448.2	NP_000439.1:p.(Met1006Val)	NC_000011.9:g.36597870A>G	(Likely) benign	1 lab	a937c0ff53
4:128554323 INTU G>A	4	128554323	128554323	G	A	INTU	c.134G>A	NM_015693.4	NP_056508.2:p.(Ser45Asn)	NC_000004.11:g.128554323G>A	(Likely) benign	1 lab	a93a0eba2b
15:51294681 AP4E1 A>G	15	51294681	51294681	A	G	AP4E1	c.3254-18A>G	NM_007347.4	NP_031373.2:p.?	NC_000015.9:g.51294681A>G	(Likely) benign	1 lab	a93a58e82e
13:28611330 FLT3 T>C	13	28611330	28611330	T	C	FLT3	c.1301A>G	NM_004119.2	NP_004110.2:p.(Asn434Ser)	NC_000013.10:g.28611330T>C	(Likely) benign	1 lab	a93a7d3d97
1:1464687 ATAD3A C>A	1	1464687	1464687	C	A	ATAD3A	c.1734C>A	NM_018188.4	NP_060658.3:p.(Ile578=)	NC_000001.10:g.1464687C>A	(Likely) benign	1 lab	a93b45182d
12:96379721 HAL C>T	12	96379721	96379721	C	T	HAL	c.1171G>A	NM_002108.3	NP_002099.1:p.(Val391Ile)	NC_000012.11:g.96379721C>T	VUS	1 lab	a93d54e376
18:3447739 TGIF1 T>A	18	3447739	3447739	T	A	TGIF1	c.2T>A	NM_173207.2	NP_775299.1:p.(Met1?)	NC_000018.9:g.3447739T>A	(Likely) pathogenic	1 lab	a93d8a8157
2:179458965 TTN G>T	2	179458965	179458965	G	T	TTN	c.58155C>A	NM_001267550.1	NP_001254479.1:p.(Pro19385=)	NC_000002.11:g.179458965G>T	(Likely) benign	1 lab	a93e8b61b0
1:152329615 FLG2 G>A	1	152329615	152329615	G	A	FLG2	c.647C>T	NM_001014342.2	NP_001014364.1:p.(Ser216Phe)	NC_000001.10:g.152329615G>A	VUS	1 lab	a9405332ea
19:2278816 PEAK3 C>T	19	2278816	2278816	C	T	PEAK3	c.379G>A	NM_198532.3	NP_940934.1:p.(Asp127Asn)	NC_000019.9:g.2278816C>T	(Likely) benign	1 lab	a9405850ac
1:11862929 MTHFR T>G	1	11862929	11862929	T	G	MTHFR	c.359+9A>C	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11862929T>G	(Likely) benign	1 lab	a941045e1a
12:80746216 OTOGL TGTGA>T	12	80746216	80746222	TGTGA	T	OTOGL	c.5407+3_5407+6del	NM_001378609.3	NP_001365538.2:p.?	NC_000012.11:g.80746219_80746222del	VUS	1 lab	a9442dc6af
8:126044613 WASHC5 C>T	8	126044613	126044613	C	T	WASHC5	c.3205G>A	NM_014846.3	NP_055661.3:p.(Asp1069Asn)	NC_000008.10:g.126044613C>T	VUS	1 lab	a944ef6520
8:94827660 TMEM67 A>C	8	94827660	94827660	A	C	TMEM67	c.2892A>C	NM_153704.5	NP_714915.3:p.(Thr964=)	NC_000008.10:g.94827660A>C	(Likely) benign	1 lab	a945493d46
3:42701276 ZBTB47 G>A	3	42701276	42701276	G	A	ZBTB47	c.1429G>A	NM_145166.4	NP_660149.2:p.(Glu477Lys)	NC_000003.11:g.42701276G>A	VUS	1 lab	a94571a458
5:149240473 PDE6A G>A	5	149240473	149240473	G	A	PDE6A	c.2568C>T	NM_000440.2	NP_000431.2:p.(Ser856=)	NC_000005.9:g.149240473G>A	(Likely) benign	1 lab	a9469dbe61
11:6661959 DCHS1 G>C	11	6661959	6661959	G	C	DCHS1				NC_000011.9:g.6661959G>C	VUS	1 lab	a947862097
6:152671448 SYNE1 G>A	6	152671448	152671448	G	A	SYNE1	c.11756C>T	NM_182961.3	NP_892006.3:p.(Ala3919Val)	NC_000006.11:g.152671448G>A	(Likely) benign	1 lab	a948284876
18:45368315 SMAD2 C>T	18	45368315	45368315	C	T	SMAD2	c.1287G>A	NM_001003652.3	NP_001003652.1:p.(Gln429=)	NC_000018.9:g.45368315C>T	(Likely) benign	1 lab	a94a323984
11:66456256 SPTBN2 C>T	11	66456256	66456256	C	T	SPTBN2	c.6099G>A	NM_006946.3	NP_008877.1:p.(Glu2033=)	NC_000011.9:g.66456256C>T	(Likely) benign	1 lab	a94a3ec081
18:56204747 ALPK2 G>A	18	56204747	56204747	G	A	ALPK2	c.2672C>T	NM_052947.4	NP_443179.3:p.(Thr891Ile)	NC_000018.9:g.56204747G>A	(Likely) benign	1 lab	a94a656a41
16:67207819 NOL3 C>T	16	67207819	67207819	C	T	NOL3	c.48C>T	NM_001276319.1	NP_001263248.1:p.(Asp16=)	NC_000016.9:g.67207819C>T	(Likely) benign	1 lab	a94a7f0ab5
13:32945092 BRCA2 G>A	13	32945092	32945092	G	A	BRCA2	c.8488-1G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32945092G>A	(Likely) pathogenic	1 lab	a94b821355
X:11139054 HCCS C>A	X	11139054	11139054	C	A	HCCS	c.549C>A	NM_005333.5	NP_005324.3:p.(Ile183=)	NC_000023.10:g.11139054C>A	(Likely) benign	1 lab	a94bf38566
15:26828525 GABRB3 C>A	15	26828525	26828525	C	A	GABRB3	c.243G>T	NM_001278631.1	NP_001265560.1:p.(Arg81Ser)	NC_000015.9:g.26828525C>A	VUS	1 lab	a94cb3c9d0
17:29486021 NF1 CTGTTAG>C	17	29486021	29486027	CTGTTAG	C	NF1	c.205-6_205-1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29486022_29486027del	(Likely) pathogenic	1 lab	a94d343659
3:69928499 MITF C>T	3	69928499	69928499	C	T	MITF	c.319C>T	NM_198159.2	NP_937802.1:p.(Pro107Ser)	NC_000003.11:g.69928499C>T	VUS	1 lab	a94dce6722
X:49088273 CACNA1F G>T	X	49088273	49088273	G	T	CACNA1F	c.142C>A	NM_005183.3	NP_005174.2:p.(Pro48Thr)	NC_000023.10:g.49088273G>T	(Likely) benign	1 lab	a94e01952b
5:6609944 NSUN2 G>A	5	6609944	6609944	G	A	NSUN2	c.1318C>T	NM_017755.5	NP_060225.4:p.(Pro440Ser)	NC_000005.9:g.6609944G>A	VUS	1 lab	a9512b626c
10:104157162 NFKB2 ACGGGTATGGGTGCAGGGGGTGGGT>A	10	104157162	104157210	ACGGGTATGGGTGCAGGGGGTGGGT	A	NFKB2	c.502+22_502+45del	NM_001322934.2	NP_001309863.1:p.?	NC_000010.10:g.104157187_104157210del	(Likely) benign	1 lab	a95162cab0
X:110970964 ALG13 A>G	X	110970964	110970964	A	G	ALG13	c.1979A>G	NM_001257231.1	NP_001244160.1:p.(Glu660Gly)	NC_000023.10:g.110970964A>G	(Likely) benign	1 lab	a952a1a80d
2:165994637 SCN3A C>A	2	165994637	165994637	C	A	SCN3A	c.2153-10G>T	NM_006922.3	NP_008853.3:p.?	NC_000002.11:g.165994637C>A	(Likely) benign	1 lab	a954d2ea00
13:39264381 FREM2 A>G	13	39264381	39264381	A	G	FREM2	c.2900A>G	NM_207361.5	NP_997244.4:p.(Asn967Ser)	NC_000013.10:g.39264381A>G	VUS	1 lab	a95538b1b9
7:21641054 DNAH11 G>A	7	21641054	21641054	G	A	DNAH11				NC_000007.13:g.21641054G>A	VUS	1 lab	a95587c4fb
2:73718407 ALMS1 A>G	2	73718407	73718407	A	G	ALMS1	c.9324A>G	NM_015120.4	NP_055935.4:p.(Val3108=)	NC_000002.11:g.73718407A>G	(Likely) benign	1 lab	a95771ba16
11:78369834 TENM4 G>T	11	78369834	78369834	G	T	TENM4	c.7579C>A	NM_001098816.2	NP_001092286.2:p.(Gln2527Lys)	NC_000011.9:g.78369834G>T	VUS	1 lab	a957fe7cf2
14:105238768 AKT1 G>A	14	105238768	105238768	G	A	AKT1	c.1194C>T	NM_001014432.1	NP_001014432.1:p.(Asp398=)	NC_000014.8:g.105238768G>A	(Likely) benign	1 lab	a95923c5e6
7:35280641 TBX20 CA>C	7	35280641	35280645	CA	C	TBX20	c.662del	NM_001077653.2	NP_001071121.1:p.(Leu221Ter)	NC_000007.13:g.35280645del	VUS	1 lab	a95ac1662c
19:6822350 VAV1 G>A	19	6822350	6822350	G	A	VAV1	c.558+10G>A	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6822350G>A	(Likely) benign	1 lab	a95b54f732
2:241903977 CROCC2 C>A	2	241903977	241903977	C	A	CROCC2	c.3400C>A	NM_001351305.1	NP_001338234.1:p.(His1134Asn)	NC_000002.11:g.241903977C>A	VUS	1 lab	a95c2e4eb0
22:24129566 SMARCB1 G>GCT	22	24129566	24129568	G	GCT	SMARCB1	c.93+118_93+119insTC	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24129567_24129568insTC	(Likely) benign	1 lab	a95cb482d9
10:72358514 PRF1 C>A	10	72358514	72358514	C	A	PRF1	c.963G>T	NM_001083116.1	NP_001076585.1:p.(Gly321=)	NC_000010.10:g.72358514C>A	(Likely) benign	1 lab	a95f3bda1d
5:73207243 ARHGEF28 A>G	5	73207243	73207243	A	G	ARHGEF28	c.4791A>G	NM_001080479.2	NP_001073948.2:p.(Gln1597=)	NC_000005.9:g.73207243A>G	(Likely) benign	1 lab	a960306890
16:50828222 CYLD C>T	16	50828222	50828222	C	T	CYLD	c.2569C>T	NM_015247.2	NP_056062.1:p.(Gln857Ter)	NC_000016.9:g.50828222C>T	(Likely) pathogenic	1 lab	a960e1c9c7
13:110822930 COL4A1 C>T	13	110822930	110822930	C	T	COL4A1	c.3706G>A	NM_001845.5	NP_001836.3:p.(Gly1236Arg)	NC_000013.10:g.110822930C>T	(Likely) pathogenic	1 lab	a963dc80cd
6:129762025 LAMA2 T>C	6	129762025	129762025	T	C	LAMA2	c.6150T>C	NM_000426.3	NP_000417.2:p.(Asp2050=)	NC_000006.11:g.129762025T>C	(Likely) benign	1 lab	a964ae4c68
22:38119979 TRIOBP C>T	22	38119979	38119979	C	T	TRIOBP	c.1416C>T	NM_001039141.2	NP_001034230.1:p.(Ala472=)	NC_000022.10:g.38119979C>T	(Likely) benign	1 lab	a964dfa760
2:149793896 KIF5C C>T	2	149793896	149793896	C	T	KIF5C	c.390C>T	NM_004522.3	NP_004513.1:p.(His130=)	NC_000002.11:g.149793896C>T	(Likely) benign	1 lab	a966c2bc26
2:209150559 PIKFYVE C>T	2	209150559	209150559	C	T	PIKFYVE	c.723C>T	NM_015040.3	NP_055855.2:p.(Cys241=)	NC_000002.11:g.209150559C>T	(Likely) benign	1 lab	a968aef687
16:2134594 TSC2 GC>G	16	2134594	2134598	GC	G	TSC2	c.4375del	NM_000548.5	NP_000539.2:p.(Arg1459GlufsTer17)	NC_000016.9:g.2134598del	(Likely) pathogenic	1 lab	a96a7e18af
9:21333694 KLHL9 G>A	9	21333694	21333694	G	A	KLHL9	c.1165C>T	NM_018847.3	NP_061335.1:p.(Arg389Cys)	NC_000009.11:g.21333694G>A	VUS	1 lab	a96b09ad8a
X:153061923 SSR4 C>T	X	153061923	153061923	C	T	SSR4	c.126C>T	NM_001204527.1	NP_001191456.1:p.(Ser42=)	NC_000023.10:g.153061923C>T	(Likely) benign	1 lab	a96f927225
4:186435447 PDLIM3 A>G	4	186435447	186435447	A	G	PDLIM3	c.375T>C	NM_014476.5	NP_055291.2:p.(Pro125=)	NC_000004.11:g.186435447A>G	(Likely) benign	1 lab	a971b412c1
17:26961754 BLTP2 G>A	17	26961754	26961754	G	A	BLTP2	c.2851C>T	NM_014680.5	NP_055495.2:p.(Arg951Cys)	NC_000017.10:g.26961754G>A	VUS	1 lab	a971d1f4c9
4:126412757 FAT4 C>A	4	126412757	126412757	C	A	FAT4	c.14780C>A	NM_024582.4	NP_078858.4:p.(Thr4927Asn)	NC_000004.11:g.126412757C>A	(Likely) benign	1 lab	a973286727
14:76330212 TTLL5 C>G	14	76330212	76330212	C	G	TTLL5	c.3522+7C>G	NM_015072.4	NP_055887.3:p.?	NC_000014.8:g.76330212C>G	(Likely) benign	1 lab	a974b9f2fc
13:26343358 ATP8A2 C>T	13	26343358	26343358	C	T	ATP8A2	c.2559C>T	NM_016529.5	NP_057613.4:p.(Ala853=)	NC_000013.10:g.26343358C>T	(Likely) benign	1 lab	a9764a7dae
X:14627151 GLRA2 C>T	X	14627151	14627151	C	T	GLRA2	c.754C>T	NM_001118886.1	NP_001112358.1:p.(Arg252Cys)	NC_000023.10:g.14627151C>T	VUS	1 lab	a978beb8f2
1:17331924 ATP13A2 C>T	1	17331924	17331924	C	T	ATP13A2	c.233G>A	NM_001141973.2	NP_001135445.1:p.(Arg78Gln)	NC_000001.10:g.17331924C>T	(Likely) benign	1 lab	a97b0bbe16
10:55582089 PCDH15 G>A	10	55582089	55582089	G	A	PCDH15	c.5418C>T	NM_001142763.1	NP_001136235.1:p.(Ser1806=)	NC_000010.10:g.55582089G>A	(Likely) benign	1 lab	a97c284737
9:139324769 INPP5E A>G	9	139324769	139324769	A	G	INPP5E	c.1762T>C	NM_019892.5	NP_063945.2:p.(Tyr588His)	NC_000009.11:g.139324769A>G	VUS	1 lab	a97c82dcd4
1:981594 AGRN G>A	1	981594	981594	G	A	AGRN	c.2860G>A	NM_001305275.2	NP_001292204.1:p.(Ala954Thr)	NC_000001.10:g.981594G>A	VUS	1 lab	a97c84c7de
4:5758031 EVC G>A	4	5758031	5758031	G	A	EVC	c.1505G>A	NM_153717.2	NP_714928.1:p.(Cys502Tyr)	NC_000004.11:g.5758031G>A	(Likely) benign	1 lab	a97f3384b8
14:102500685 DYNC1H1 G>A	14	102500685	102500685	G	A	DYNC1H1	c.10650G>A	NM_001376.4	NP_001367.2:p.(Thr3550=)	NC_000014.8:g.102500685G>A	(Likely) benign	1 lab	a98070b770
2:219677137 CYP27A1 C>T	2	219677137	219677137	C	T	CYP27A1	c.639C>T	NM_000784.3	NP_000775.1:p.(Ala213=)	NC_000002.11:g.219677137C>T	(Likely) benign	1 lab	a98134fbdb
7:103191650 RELN G>A	7	103191650	103191650	G	A	RELN	c.6166C>T	NM_005045.3	NP_005036.2:p.(Pro2056Ser)	NC_000007.13:g.103191650G>A	VUS	1 lab	a981677eae
6:152718031 SYNE1 T>C	6	152718031	152718031	T	C	SYNE1	c.7435A>G	NM_182961.3	NP_892006.3:p.(Lys2479Glu)	NC_000006.11:g.152718031T>C	VUS	1 lab	a9823cdc03
16:2138120 TSC2 C>T	16	2138120	2138120	C	T	TSC2	c.5140C>T	NM_000548.3	NP_000539.2:p.(Gln1714Ter)	NC_000016.9:g.2138120C>T	(Likely) pathogenic	1 lab	a98321b837
1:2235393 SKI C>T	1	2235393	2235393	C	T	SKI	c.1326C>T	NM_003036.3	NP_003027.1:p.(Ala442=)	NC_000001.10:g.2235393C>T	(Likely) benign	1 lab	a98758e6ab
3:46008717 FYCO1 C>T	3	46008717	46008717	C	T	FYCO1	c.2109G>A	NM_024513.3	NP_078789.2:p.(Gln703=)	NC_000003.11:g.46008717C>T	(Likely) benign	1 lab	a98970a22c
2:228172599 COL4A3 G>A	2	228172599	228172599	G	A	COL4A3	c.4426G>A	NM_000091.4	NP_000082.2:p.(Val1476Ile)	NC_000002.11:g.228172599G>A	VUS	1 lab	a98aa61eb7
6:84269827 SNAP91 G>A	6	84269827	84269827	G	A	SNAP91	c.2354C>T	NM_001256717.1	NP_001243646.1:p.(Thr785Met)	NC_000006.11:g.84269827G>A	VUS	1 lab	a98c502d70
4:56825869 CEP135 A>C	4	56825869	56825869	A	C	CEP135	c.636A>C	NM_025009.4	NP_079285.2:p.(Glu212Asp)	NC_000004.11:g.56825869A>C	(Likely) benign	1 lab	a98c8f68a2
6:105224973 HACE1 C>A	6	105224973	105224973	C	A	HACE1	c.1691G>T	NM_020771.3	NP_065822.2:p.(Arg564Met)	NC_000006.11:g.105224973C>A	VUS	1 lab	a98eb04217
8:144994909 PLEC G>A	8	144994909	144994909	G	A	PLEC	c.9491C>T	NM_201380.3	NP_958782.1:p.(Ala3164Val)	NC_000008.10:g.144994909G>A	VUS	1 lab	a991fab17c
14:88903948 SPATA7 C>A	14	88903948	88903948	C	A	SPATA7	c.1215+7C>A	NM_018418.4	NP_060888.2:p.?	NC_000014.8:g.88903948C>A	(Likely) benign	1 lab	a9929c1062
16:2138142 TSC2 T>C	16	2138142	2138142	T	C	TSC2	c.5160+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138142T>C	(Likely) pathogenic	1 lab	a995bdbaf4
16:84203784 DNAAF1 G>A	16	84203784	84203784	G	A	DNAAF1	c.1350G>A	NM_178452.5	NP_848547.4:p.(Pro450=)	NC_000016.9:g.84203784G>A	(Likely) benign	1 lab	a996081d31
17:78064186 CCDC40 A>AG	17	78064186	78064187	A	AG	CCDC40	c.3082dup	NM_001243342.1	NP_001230271.1:p.(Ala1028GlyfsTer66)	NC_000017.10:g.78064187dup	(Likely) benign	1 lab	a99797e06c
2:145147106 ZEB2 C>A	2	145147106	145147106	C	A	ZEB2	c.3557G>T	NM_014795.3	NP_055610.1:p.(Gly1186Val)	NC_000002.11:g.145147106C>A	VUS	1 lab	a99a68c2b7
9:117853202 TNC C>T	9	117853202	117853202	C	T	TNC	c.96G>A	NM_002160.3	NP_002151.2:p.(Lys32=)	NC_000009.11:g.117853202C>T	(Likely) benign	1 lab	a99bae1828
2:179456422 TTN G>A	2	179456422	179456422	G	A	TTN	c.60124C>T	NM_001267550.1	NP_001254479.1:p.(Gln20042Ter)	NC_000002.11:g.179456422G>A	(Likely) pathogenic	1 lab	a99db0964d
X:153171149 AVPR2 TCGGCGGGGC>T	X	153171149	153171168	TCGGCGGGGC	T	AVPR2	c.200_208del	NM_000054.6	NP_000045.1:p.(Arg67_Gly69del)	NC_000023.10:g.153171160_153171168del	VUS	1 lab	a99dc9cd40
3:27763784 EOMES A>G	3	27763784	27763784	A	G	EOMES	c.2T>C	NM_005442.3	NP_005433.2:p.(Met1?)	NC_000003.11:g.27763784A>G	VUS	1 lab	a99fb19f02
17:1637015 WDR81 G>A	17	1637015	1637015	G	A	WDR81	c.4684G>A	NM_001163809.1	NP_001157281.1:p.(Val1562Ile)	NC_000017.10:g.1637015G>A	VUS	1 lab	a9a0def8ec
16:2106703 TSC2 T>TCC	16	2106703	2106706	T	TCC	TSC2	c.709_710dup	NM_000548.3	NP_000539.2:p.(Leu238ArgfsTer23)	NC_000016.9:g.2106705_2106706dup	(Likely) pathogenic	1 lab	a9a12a01ad
14:68229061 ZFYVE26 G>A	14	68229061	68229061	G	A	ZFYVE26	c.6228C>T	NM_015346.3	NP_056161.2:p.(Ala2076=)	NC_000014.8:g.68229061G>A	(Likely) benign	1 lab	a9a3002d8d
18:7034652 LAMA1 A>T	18	7034652	7034652	A	T	LAMA1	c.1877T>A	NM_005559.3	NP_005550.2:p.(Leu626Gln)	NC_000018.9:g.7034652A>T	VUS	1 lab	a9a4a01447
X:40450512 ATP6AP2 G>A	X	40450512	40450512	G	A	ATP6AP2	c.195G>A	NM_005765.2	NP_005756.2:p.(Val65=)	NC_000023.10:g.40450512G>A	VUS	1 lab	a9a570dfcb
X:153207051 RENBP G>A	X	153207051	153207051	G	A	RENBP	c.825C>T	NM_002910.5	NP_002901.2:p.(Asp275=)	NC_000023.10:g.153207051G>A	(Likely) benign	1 lab	a9a71d72a6
19:39003065 RYR1 G>A	19	39003065	39003065	G	A	RYR1	c.9414G>A	NM_000540.2	NP_000531.2:p.(Pro3138=)	NC_000019.9:g.39003065G>A	(Likely) benign	1 lab	a9a84c2ec2
6:56462553 DST T>C	6	56462553	56462553	T	C	DST	c.5823A>G	NM_001144769.2	NP_001138241.1:p.(Gln1941=)	NC_000006.11:g.56462553T>C	(Likely) benign	1 lab	a9a84cfd5e
17:45009442 GOSR2 C>A	17	45009442	45009442	C	A	GOSR2	c.213C>A	NM_004287.4	NP_004278.2:p.(Asp71Glu)	NC_000017.10:g.45009442C>A	VUS	1 lab	a9a91296d4
16:89836583 FANCA G>T	16	89836583	89836583	G	T	FANCA	c.2307C>A	NM_001286167.2	NP_001273096.1:p.(Leu769=)	NC_000016.9:g.89836583G>T	(Likely) benign	1 lab	a9aaf146bb
9:139395101 NOTCH1 C>T	9	139395101	139395101	C	T	NOTCH1	c.5837G>A	NM_017617.5	NP_060087.3:p.(Arg1946His)	NC_000009.11:g.139395101C>T	VUS	1 lab	a9ab3ae9fb
2:179407047 TTN C>T	2	179407047	179407047	C	T	TTN	c.97436G>A	NM_001267550.1	NP_001254479.1:p.(Arg32479His)	NC_000002.11:g.179407047C>T	VUS	1 lab	a9ac67dd66
X:17745741 NHS C>T	X	17745741	17745741	C	T	NHS	c.3515C>T	NM_001291867.1	NP_001278796.1:p.(Thr1172Met)	NC_000023.10:g.17745741C>T	VUS	1 lab	a9aece3d4a
X:32430155 DMD C>T	X	32430155	32430155	C	T	DMD	c.20G>A	NM_004012.3	NP_004003.1:p.(Arg7Gln)	NC_000023.10:g.32430155C>T	(Likely) benign	1 lab	a9afbe9b3a
12:80733054 OTOGL G>A	12	80733054	80733054	G	A	OTOGL	c.5023+10G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80733054G>A	(Likely) benign	1 lab	a9b10832c2
6:152476133 SYNE1 T>C	6	152476133	152476133	T	C	SYNE1	c.24023A>G	NM_182961.3	NP_892006.3:p.(Tyr8008Cys)	NC_000006.11:g.152476133T>C	VUS	1 lab	a9b23cc3bb
1:235602115 TBCE T>C	1	235602115	235602115	T	C	TBCE	c.1148T>C	NM_003193.5	NP_003184.1:p.(Leu383Pro)	NC_000001.10:g.235602115T>C	VUS	1 lab	a9b5147666
4:1807389 FGFR3 G>A	4	1807389	1807389	G	A	FGFR3	c.1638G>A	NM_000142.4	NP_000133.1:p.(Thr546=)	NC_000004.11:g.1807389G>A	(Likely) benign	1 lab	a9b5770439
11:88042407 CTSC T>C	11	88042407	88042407	T	C	CTSC	c.565A>G	NM_001814.4	NP_001805.3:p.(Thr189Ala)	NC_000011.9:g.88042407T>C	(Likely) benign	1 lab	a9b5a52032
18:67755334 RTTN G>A	18	67755334	67755334	G	A	RTTN	c.4193C>T	NM_173630.3	NP_775901.3:p.(Thr1398Met)	NC_000018.9:g.67755334G>A	(Likely) benign	1 lab	a9b60b0863
7:42065777 GLI3 G>T	7	42065777	42065777	G	T	GLI3	c.1242+21C>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42065777G>T	(Likely) benign	1 lab	a9b65a0179
10:134699445 CFAP46 G>A	10	134699445	134699445	G	A	CFAP46	c.3323C>T	NM_001200049.3	NP_001186978.2:p.(Ala1108Val)	NC_000010.10:g.134699445G>A	(Likely) benign	1 lab	a9b8673de7
3:196229763 RNF168 G>C	3	196229763	196229763	G	C	RNF168	c.282C>G	NM_152617.3	NP_689830.2:p.(Gly94=)	NC_000003.11:g.196229763G>C	(Likely) benign	1 lab	a9b8e31b97
2:55906829 PNPT1 T>C	2	55906829	55906829	T	C	PNPT1	c.667A>G	NM_033109.4	NP_149100.2:p.(Lys223Glu)	NC_000002.11:g.55906829T>C	(Likely) benign	1 lab	a9b8e642c9
8:140744403 TRAPPC9 G>A	8	140744403	140744403	G	A	TRAPPC9	c.3071C>T	NM_001321646.1	NP_001308575.1:p.(Ala1024Val)	NC_000008.10:g.140744403G>A	VUS	1 lab	a9ba309f50
16:2130366 TSC2 C>T	16	2130366	2130366	C	T	TSC2	c.3598C>T	NM_000548.3	NP_000539.2:p.(Arg1200Trp)	NC_000016.9:g.2130366C>T	(Likely) pathogenic	1 lab	a9bc121ac2
15:51758481 DMXL2 C>T	15	51758481	51758481	C	T	DMXL2	c.7420G>A	NM_001174116.1	NP_001167587.1:p.(Val2474Ile)	NC_000015.9:g.51758481C>T	VUS	1 lab	a9bc7660dc
5:140574305 PCDHB10 G>A	5	140574305	140574305	G	A	PCDHB10	c.2180G>A	NM_018930.3	NP_061753.1:p.(Cys727Tyr)	NC_000005.9:g.140574305G>A	VUS	1 lab	a9bcfd7267
6:152694330 SYNE1 C>T	6	152694330	152694330	C	T	SYNE1	c.9349G>A	NM_182961.3	NP_892006.3:p.(Gly3117Arg)	NC_000006.11:g.152694330C>T	VUS	1 lab	a9bd5f95d7
1:22167674 HSPG2 G>A	1	22167674	22167674	G	A	HSPG2	c.9436C>T	NM_001291860.1	NP_001278789.1:p.(Arg3146Cys)	NC_000001.10:g.22167674G>A	VUS	1 lab	a9bdc81c7c
19:36229326 KMT2B T>G	19	36229326	36229326	T	G	KMT2B	c.8016T>G	NM_014727.2	NP_055542.1:p.(Ile2672Met)	NC_000019.9:g.36229326T>G	VUS	1 lab	a9bde72320
8:10468143 RP1L1 C>T	8	10468143	10468143	C	T	RP1L1	c.3465G>A	NM_178857.5	NP_849188.4:p.(Lys1155=)	NC_000008.10:g.10468143C>T	(Likely) benign	1 lab	a9be763135
12:64890825 TBK1 G>A	12	64890825	64890825	G	A	TBK1	c.1857G>A	NM_013254.4	NP_037386.1:p.(Trp619Ter)	NC_000012.11:g.64890825G>A	VUS	1 lab	a9bfbd81e7
X:100497329 DRP2 T>C	X	100497329	100497329	T	C	DRP2	c.844T>C	NM_001939.2	NP_001930.2:p.(Phe282Leu)	NC_000023.10:g.100497329T>C	(Likely) benign	1 lab	a9bfdf1eac
18:55217999 FECH C>G	18	55217999	55217999	C	G	FECH				NC_000018.9:g.55217999C>G	(Likely) pathogenic	1 lab	a9c0073f46
4:104061182 CENPE T>C	4	104061182	104061182	T	C	CENPE	c.5968A>G	NM_001813.2	NP_001804.2:p.(Asn1990Asp)	NC_000004.11:g.104061182T>C	(Likely) benign	1 lab	a9c27576b7
14:105965005 TEDC1 C>T	14	105965005	105965005	C	T	TEDC1	c.1003C>T	NM_001134875.1	NP_001128347.1:p.(Arg335Trp)	NC_000014.8:g.105965005C>T	VUS	1 lab	a9c2bb183a
1:158641990 SPTA1 T>C	1	158641990	158641990	T	C	SPTA1	c.1351-4A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158641990T>C	(Likely) benign	1 lab	a9c2e1d81a
10:96522463 CYP2C19 A>G	10	96522463	96522463	A	G	CYP2C19	c.1A>G	NM_000769.4	NP_000760.1:p.(Met1?)	NC_000010.10:g.96522463A>G	VUS	1 lab	a9c2f398cb
7:1516094 INTS1 G>GT	7	1516094	1516095	G	GT	INTS1	c.5152-4dup	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1516095dup	(Likely) benign	1 lab	a9c34f5b03
9:434894 DOCK8 G>C	9	434894	434894	G	C	DOCK8	c.4998G>C	NM_203447.3	NP_982272.2:p.(Val1666=)	NC_000009.11:g.434894G>C	(Likely) benign	1 lab	a9c406d7e7
1:207881595 CR1L A>G	1	207881595	207881595	A	G	CR1L	c.1401A>G	NM_175710.1	NP_783641.1:p.(Pro467=)	NC_000001.10:g.207881595A>G	(Likely) benign	1 lab	a9c4ba79b1
2:71163110 ATP6V1B1 CT>C	2	71163110	71163111	CT	C	ATP6V1B1	c.27del	NM_001692.4	NP_001683.2:p.(Leu12SerfsTer8)	NC_000002.11:g.71163111del	(Likely) pathogenic	1 lab	a9c52e08d7
7:4824573 AP5Z1 G>A	7	4824573	4824573	G	A	AP5Z1	c.825G>A	NM_014855.3	NP_055670.1:p.(Ser275=)	NC_000007.13:g.4824573G>A	(Likely) benign	1 lab	a9c6347092
X:9727472 GPR143 A>G	X	9727472	9727472	A	G	GPR143	c.361-6T>C	NM_000273.2	NP_000264.2:p.?	NC_000023.10:g.9727472A>G	(Likely) benign	1 lab	a9c6d8797c
12:124232142 ATP6V0A2 G>A	12	124232142	124232142	G	A	ATP6V0A2	c.1606-12G>A	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124232142G>A	(Likely) benign	1 lab	a9c7e4fbee
5:89988484 ADGRV1 A>T	5	89988484	89988484	A	T	ADGRV1	c.7014A>T	NM_032119.4	NP_115495.3:p.(Ala2338=)	NC_000005.9:g.89988484A>T	(Likely) benign	1 lab	a9c82a115f
19:17953355 JAK3 T>G	19	17953355	17953355	T	G	JAK3	c.631A>C	NM_000215.3	NP_000206.2:p.(Arg211=)	NC_000019.9:g.17953355T>G	(Likely) benign	1 lab	a9c9a26a51
3:184040649 EIF4G1 C>T	3	184040649	184040649	C	T	EIF4G1	c.1836C>T	NM_182917.4	NP_886553.3:p.(Tyr612=)	NC_000003.11:g.184040649C>T	(Likely) benign	1 lab	a9c9abafce
1:12557688 VPS13D AAGTT>A	1	12557688	12557694	AAGTT	A	VPS13D	c.12794+6_12794+9del	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12557691_12557694del	(Likely) benign	1 lab	a9cb9e1b66
5:157158585 THG1L C>A	5	157158585	157158585	C	A	THG1L	c.137C>A	NM_017872.5	NP_060342.2:p.(Thr46Asn)	NC_000005.9:g.157158585C>A	VUS	1 lab	a9ce9a6a4a
20:42788849 JPH2 G>A	20	42788849	42788849	G	A	JPH2	c.578C>T	NM_020433.4	NP_065166.2:p.(Pro193Leu)	NC_000020.10:g.42788849G>A	VUS	1 lab	a9cfbae178
6:111913058 TRAF3IP2 G>C	6	111913058	111913058	G	C	TRAF3IP2	c.232C>G	NM_001164281.2	NP_001157753.1:p.(Arg78Gly)	NC_000006.11:g.111913058G>C	(Likely) benign	1 lab	a9d000b9eb
22:36688157 MYH9 C>T	22	36688157	36688157	C	T	MYH9	c.4219G>A	NM_002473.5	NP_002464.1:p.(Ala1407Thr)	NC_000022.10:g.36688157C>T	VUS	1 lab	a9d1176c95
1:197446893 CRB1 A>G	1	197446893	197446893	A	G	CRB1	c.4033A>G	NM_001257965.1	NP_001244894.1:p.(Thr1345Ala)	NC_000001.10:g.197446893A>G	(Likely) benign	1 lab	a9d22d63a7
11:6644864 DCHS1 G>A	11	6644864	6644864	G	A	DCHS1				NC_000011.9:g.6644864G>A	(Likely) benign	1 lab	a9d345a77b
11:72404744 ARAP1 C>T	11	72404744	72404744	C	T	ARAP1	c.3801G>A	NM_001040118.2	NP_001035207.1:p.(Leu1267=)	NC_000011.9:g.72404744C>T	(Likely) benign	1 lab	a9d3d0312c
1:19211988 ALDH4A1 G>A	1	19211988	19211988	G	A	ALDH4A1	c.252C>T	NM_001161504.1	NP_001154976.1:p.(Leu84=)	NC_000001.10:g.19211988G>A	(Likely) benign	1 lab	a9dfff841c
17:7127146 ACADVL G>A	17	7127146	7127146	G	A	ACADVL	c.1056G>A	NM_001270448.1	NP_001257377.1:p.(Lys352=)	NC_000017.10:g.7127146G>A	(Likely) benign	1 lab	a9d48c80b3
21:46893915 COL18A1 C>T	21	46893915	46893915	C	T	COL18A1	c.738+20C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46893915C>T	(Likely) benign	1 lab	a9d6a83b2b
X:16142092 GRPR T>C	X	16142092	16142092	T	C	GRPR	c.16T>C	NM_005314.2	NP_005305.1:p.(Cys6Arg)	NC_000023.10:g.16142092T>C	VUS	1 lab	a9d6d8420e
13:50108355 RCBTB1 GT>G	13	50108355	50108356	GT	G	RCBTB1	c.1498del	NM_018191.4	NP_060661.3:p.(Thr500GlnfsTer17)	NC_000013.10:g.50108356del	(Likely) pathogenic	1 lab	a9d8211647
16:3440034 ZSCAN32 T>A	16	3440034	3440034	T	A	ZSCAN32	c.91A>T	NM_001324340.1	NP_001311269.1:p.(Arg31Trp)	NC_000016.9:g.3440034T>A	VUS	1 lab	a9d8c9b1cc
X:3238496 MXRA5 C>T	X	3238496	3238496	C	T	MXRA5	c.5230G>A	NM_015419.3	NP_056234.2:p.(Gly1744Arg)	NC_000023.10:g.3238496C>T	VUS	1 lab	a9dbeb1d94
21:34617365 IFNAR2 G>A	21	34617365	34617365	G	A	IFNAR2	c.207G>A	NM_001289125.1	NP_001276054.1:p.(Leu69=)	NC_000021.8:g.34617365G>A	(Likely) benign	1 lab	a9dc27b86e
11:118530637 TREH C>T	11	118530637	118530637	C	T	TREH	c.1139G>A	NM_007180.2	NP_009111.2:p.(Arg380Gln)	NC_000011.9:g.118530637C>T	(Likely) benign	1 lab	a9f189e596
1:201346745 TNNT2 C>A	1	201346745	201346745	C	A	TNNT2	c.-148+6G>T	NM_001276347.1	NP_001263276.1:p.?	NC_000001.10:g.201346745C>A	(Likely) benign	1 lab	a9e10dc7fe
9:117825395 TNC C>T	9	117825395	117825395	C	T	TNC	c.3834G>A	NM_002160.3	NP_002151.2:p.(Thr1278=)	NC_000009.11:g.117825395C>T	(Likely) benign	1 lab	a9e1c32faa
1:2420731 PLCH2 G>T	1	2420731	2420731	G	T	PLCH2	c.1381G>T	NM_001303013.1	NP_001289942.1:p.(Asp461Tyr)	NC_000001.10:g.2420731G>T	VUS	1 lab	a9e1cf8c89
17:29556250 NF1 C>T	17	29556250	29556250	C	T	NF1	c.2617C>T	NM_000267.3	NP_000258.1:p.(Arg873Cys)	NC_000017.10:g.29556250C>T	(Likely) benign	1 lab	a9e281ae52
15:81429040 CFAP161 G>A	15	81429040	81429040	G	A	CFAP161	c.343G>A	NM_173528.4	NP_775799.2:p.(Ala115Thr)	NC_000015.9:g.81429040G>A	VUS	1 lab	a9e568e405
16:708331 WDR90 G>A	16	708331	708331	G	A	WDR90	c.2753G>A	NM_145294.5	NP_660337.3:p.(Arg918His)	NC_000016.9:g.708331G>A	(Likely) benign	1 lab	a9e6213027
10:124810704 ACADSB TAAAA>T	10	124810704	124810728	TAAAA	T	ACADSB	c.1128+23_1128+26del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124810725_124810728del	(Likely) benign	1 lab	a9e84da165
17:7489067 MPDU1 C>G	17	7489067	7489067	C	G	MPDU1	c.121C>G	NM_004870.3	NP_004861.2:p.(Leu41Val)	NC_000017.10:g.7489067C>G	(Likely) benign	1 lab	a9ea938576
12:94729365 CEP83 C>T	12	94729365	94729365	C	T	CEP83	c.1419G>A	NM_016122.2	NP_057206.2:p.(Gln473=)	NC_000012.11:g.94729365C>T	(Likely) benign	1 lab	a9eae66810
1:228480481 OBSCN G>A	1	228480481	228480481	G	A	OBSCN	c.12148G>A	NM_001271223.2	NP_001258152.2:p.(Val4050Ile)	NC_000001.10:g.228480481G>A	VUS	1 lab	a9ef84fbba
12:88909312 KITLG A>G	12	88909312	88909312	A	G	KITLG	c.603T>C	NM_000899.4	NP_000890.1:p.(Asn201=)	NC_000012.11:g.88909312A>G	(Likely) benign	1 lab	a9f023a634
2:238436020 MLPH G>C	2	238436020	238436020	G	C	MLPH	c.881G>C	NM_024101.5	NP_077006.1:p.(Gly294Ala)	NC_000002.11:g.238436020G>C	(Likely) benign	1 lab	a9f28e9e0a
1:220344276 RAB3GAP2 G>A	1	220344276	220344276	G	A	RAB3GAP2	c.2764C>T	NM_012414.3	NP_036546.2:p.(Leu922Phe)	NC_000001.10:g.220344276G>A	VUS	1 lab	a9f2d4867e
7:42004705 GLI3 G>T	7	42004705	42004705	G	T	GLI3	c.3966C>A	NM_000168.5	NP_000159.3:p.(Tyr1322Ter)	NC_000007.13:g.42004705G>T	(Likely) pathogenic	1 lab	a9f325de54
16:2105417 TSC2 C>T	16	2105417	2105417	C	T	TSC2	c.496C>T	NM_000548.3	NP_000539.2:p.(Gln166Ter)	NC_000016.9:g.2105417C>T	(Likely) pathogenic	1 lab	a9f55a859f
2:74759957 HTRA2 C>T	2	74759957	74759957	C	T	HTRA2	c.1222C>T	NM_013247.4	NP_037379.1:p.(Arg408Trp)	NC_000002.11:g.74759957C>T	VUS	1 lab	a9f5ed2746
14:65220482 SPTB G>T	14	65220482	65220482	G	T	SPTB	c.6375C>A	NM_001024858.3	NP_001020029.1:p.(Asn2125Lys)	NC_000014.8:g.65220482G>T	(Likely) benign	1 lab	a9f651096c
2:192279380 MYO1B C>T	2	192279380	192279380	C	T	MYO1B	c.3144C>T	NM_001130158.3	NP_001123630.1:p.(Ala1048=)	NC_000002.11:g.192279380C>T	(Likely) benign	1 lab	a9f6de734c
9:20720434 FOCAD G>C	9	20720434	20720434	G	C	FOCAD	c.188G>C	NM_017794.4	NP_060264.4:p.(Arg63Pro)	NC_000009.11:g.20720434G>C	VUS	1 lab	a9f8aa0e6f
11:6578413 DNHD1 C>T	11	6578413	6578413	C	T	DNHD1	c.7888C>T	NM_144666.2	NP_653267.2:p.(Arg2630Ter)	NC_000011.9:g.6578413C>T	VUS	1 lab	aa0ae0dcaa
10:102269198 SEC31B C>T	10	102269198	102269198	C	T	SEC31B	c.274G>A	NM_015490.4	NP_056305.1:p.(Gly92Arg)	NC_000010.10:g.102269198C>T	VUS	1 lab	a9f96103c1
12:124209286 ATP6V0A2 A>T	12	124209286	124209286	A	T	ATP6V0A2	c.380A>T	NM_012463.3	NP_036595.2:p.(Glu127Val)	NC_000012.11:g.124209286A>T	VUS	1 lab	a9fd298f41
7:137570146 CREB3L2 C>T	7	137570146	137570146	C	T	CREB3L2	c.1143+3G>A	NM_194071.4	NP_919047.2:p.?	NC_000007.13:g.137570146C>T	(Likely) benign	1 lab	a9fe6982ca
1:10186929 UBE4B C>G	1	10186929	10186929	C	G	UBE4B	c.1632C>G	NM_001105562.3	NP_001099032.1:p.(Pro544=)	NC_000001.10:g.10186929C>G	(Likely) benign	1 lab	a9fe793403
3:184071181 CLCN2 G>A	3	184071181	184071181	G	A	CLCN2	c.1885C>T	NM_004366.5	NP_004357.3:p.(Arg629Cys)	NC_000003.11:g.184071181G>A	VUS	1 lab	a9ff376073
19:18882284 CRTC1 C>T	19	18882284	18882284	C	T	CRTC1	c.1401C>T	NM_001098482.1	NP_001091952.1:p.(Ala467=)	NC_000019.9:g.18882284C>T	(Likely) benign	1 lab	a9ffad5c7d
X:70800708 GCNA G>A	X	70800708	70800708	G	A	GCNA	c.37G>A	NM_052957.4	NP_443189.1:p.(Glu13Lys)	NC_000023.10:g.70800708G>A	(Likely) benign	1 lab	aa00830482
11:118899135 SLC37A4 C>A	11	118899135	118899135	C	A	SLC37A4	c.150G>T	NM_001164277.1	NP_001157749.1:p.(Gly50=)	NC_000011.9:g.118899135C>A	(Likely) benign	1 lab	aa00df502f
X:150891124 FATE1 C>T	X	150891124	150891124	C	T	FATE1	c.445C>T	NM_033085.2	NP_149076.1:p.(Arg149Cys)	NC_000023.10:g.150891124C>T	(Likely) benign	1 lab	aa01578fdf
1:243493998 SDCCAG8 C>G	1	243493998	243493998	C	G	SDCCAG8	c.1221+4C>G	NM_006642.4	NP_006633.1:p.?	NC_000001.10:g.243493998C>G	(Likely) benign	1 lab	aa0228429b
16:2135281 TSC2 C>G	16	2135281	2135281	C	G	TSC2	c.4620C>G	NM_000548.3	NP_000539.2:p.(Tyr1540Ter)	NC_000016.9:g.2135281C>G	(Likely) pathogenic	1 lab	aa02f4225b
X:77296106 ATP7A AT>A	X	77296106	77296107	AT	A	ATP7A	c.3677del	NM_000052.7	NP_000043.4:p.(Ile1226LysfsTer7)	NC_000023.10:g.77296107del	(Likely) pathogenic	1 lab	aa033a1265
15:85360821 ALPK3 G>C	15	85360821	85360821	G	C	ALPK3	c.744G>C	NM_020778.4	NP_065829.3:p.(Glu248Asp)	NC_000015.9:g.85360821G>C	VUS	1 lab	aa052f3604
16:16276385 ABCC6 C>T	16	16276385	16276385	C	T	ABCC6	c.2131G>A	NM_001171.5	NP_001162.4:p.(Val711Met)	NC_000016.9:g.16276385C>T	VUS	1 lab	aa0763a380
X:152087569 ZNF185 C>T	X	152087569	152087569	C	T	ZNF185	c.474C>T	NM_001178106.1	NP_001171577.1:p.(Thr158=)	NC_000023.10:g.152087569C>T	(Likely) benign	1 lab	aa0767ecba
9:109701264 ZNF462 C>G	9	109701264	109701264	C	G	ZNF462	c.6303C>G	NM_021224.5	NP_067047.4:p.(His2101Gln)	NC_000009.11:g.109701264C>G	VUS	1 lab	aa091a748f
17:29556312 NF1 AT>A	17	29556312	29556315	AT	A	NF1	c.2682del	NM_001042492.3	NP_001035957.1:p.(Phe894LeufsTer8)	NC_000017.10:g.29556315del	(Likely) pathogenic	1 lab	aa09885f6f
9:78799667 PCSK5 G>A	9	78799667	78799667	G	A	PCSK5	c.2276G>A	NM_001190482.1	NP_001177411.1:p.(Gly759Glu)	NC_000009.11:g.78799667G>A	VUS	1 lab	aa09c8173e
16:2546381 TBC1D24 G>A	16	2546381	2546381	G	A	TBC1D24	c.232G>A	NM_001199107.1	NP_001186036.1:p.(Val78Met)	NC_000016.9:g.2546381G>A	VUS	1 lab	aa0a0a753a
7:91842600 KRIT1 AAT>A	7	91842600	91842604	AAT	A	KRIT1	c.1932_1933del	NM_194454.3	NP_919436.1:p.(Phe645TyrfsTer9)	NC_000007.13:g.91842603_91842604del	(Likely) pathogenic	1 lab	aa0c69d21a
15:23892106 MAGEL2 G>T	15	23892106	23892106	G	T	MAGEL2	c.784C>A	NM_019066.4	NP_061939.3:p.(Pro262Thr)	NC_000015.9:g.23892106G>T	VUS	1 lab	aa0d416cfc
16:56535333 BBS2 G>A	16	56535333	56535333	G	A	BBS2	c.1157C>T	NM_031885.3	NP_114091.3:p.(Thr386Met)	NC_000016.9:g.56535333G>A	(Likely) benign	1 lab	aa0e0f8579
15:72956813 GOLGA6B C>G	15	72956813	72956813	C	G	GOLGA6B	c.1462C>G	NM_018652.4	NP_061122.4:p.(Leu488Val)	NC_000015.9:g.72956813C>G	VUS	1 lab	aa0e42825b
17:3999979 ZZEF1 G>C	17	3999979	3999979	G	C	ZZEF1	c.1688C>G	NM_015113.4	NP_055928.3:p.(Thr563Ser)	NC_000017.10:g.3999979G>C	(Likely) benign	1 lab	aa0fc588fa
14:50116991 POLE2 T>C	14	50116991	50116991	T	C	POLE2	c.1258A>G	NM_001348385.1	NP_001335314.1:p.(Ile420Val)	NC_000014.8:g.50116991T>C	(Likely) benign	1 lab	aa10938a28
10:103826499 HPS6 CAGA>C	10	103826499	103826506	CAGA	C	HPS6	c.1273_1275del	NM_024747.6	NP_079023.2:p.(Glu425del)	NC_000010.10:g.103826504_103826506del	VUS	1 lab	aa12986dff
9:135804139 TSC1 T>C	9	135804139	135804139	T	C	TSC1	c.106+15A>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135804139T>C	(Likely) benign	1 lab	aa13c28e8f
15:62165593 VPS13C A>G	15	62165593	62165593	A	G	VPS13C	c.10430T>C	NM_001018088.2	NP_001018098.1:p.(Val3477Ala)	NC_000015.9:g.62165593A>G	(Likely) benign	1 lab	aa13f0537f
9:43625589 SPATA31A6 C>A	9	43625589	43625589	C	A	SPATA31A6	c.3098G>T	NM_001145196.1	NP_001138668.1:p.(Gly1033Val)	NC_000009.11:g.43625589C>A	VUS	1 lab	aa148360f3
2:32743442 BIRC6 T>C	2	32743442	32743442	T	C	BIRC6	c.11471T>C	NM_016252.3	NP_057336.3:p.(Met3824Thr)	NC_000002.11:g.32743442T>C	(Likely) benign	1 lab	aa14a138d0
12:50749628 FAM186A T>C	12	50749628	50749628	T	C	FAM186A	c.987A>G	NM_001145475.2	NP_001138947.1:p.(Gln329=)	NC_000012.11:g.50749628T>C	(Likely) benign	1 lab	aa14e72e80
21:38865408 DYRK1A C>T	21	38865408	38865408	C	T	DYRK1A	c.1014C>T	NM_001347721.2	NP_001334650.1:p.(Leu338=)	NC_000021.8:g.38865408C>T	(Likely) benign	1 lab	aa183bc375
16:81819631 PLCG2 T>G	16	81819631	81819631	T	G	PLCG2	c.37T>G	NM_002661.3	NP_002652.2:p.(Tyr13Asp)	NC_000016.9:g.81819631T>G	VUS	1 lab	aa1902b35e
X:66942741 AR G>A	X	66942741	66942741	G	A	AR	c.2522G>A	NM_000044.4	NP_000035.2:p.(Arg841His)	NC_000023.10:g.66942741G>A	(Likely) pathogenic	1 lab	aa191330a2
19:55667620 TNNI3 GC>AA	19	55667620	55667621	GC	AA	TNNI3	c.230_231delinsTT	NM_000363.4	NP_000354.4:p.(Ser77Ile)	NC_000019.9:g.55667620_55667621delinsAA	VUS	1 lab	aa1cf1573c
X:55047692 ALAS2 C>T	X	55047692	55047692	C	T	ALAS2	c.392G>A	NM_001037968.3	NP_001033057.1:p.(Ser131Asn)	NC_000023.10:g.55047692C>T	(Likely) benign	1 lab	aa2034ce59
9:123922438 CNTRL G>A	9	123922438	123922438	G	A	CNTRL	c.4947G>A	NM_007018.4	NP_008949.4:p.(Leu1649=)	NC_000009.11:g.123922438G>A	(Likely) benign	1 lab	aa20840e81
7:21640618 DNAH11 C>G	7	21640618	21640618	C	G	DNAH11				NC_000007.13:g.21640618C>G	(Likely) benign	1 lab	aa237facc3
19:36224210 KMT2B C>A	19	36224210	36224210	C	A	KMT2B	c.6760C>A	NM_014727.2	NP_055542.1:p.(Pro2254Thr)	NC_000019.9:g.36224210C>A	(Likely) benign	1 lab	aa23dfb0c4
11:17518336 USH1C C>T	11	17518336	17518336	C	T	USH1C	c.2515G>A	NM_153676.3	NP_710142.1:p.(Val839Ile)	NC_000011.9:g.17518336C>T	VUS	1 lab	aa23fd555f
X:140983136 MAGEC3 GA>G	X	140983136	140983137	GA	G	MAGEC3	c.992del	NM_138702.1	NP_619647.1:p.(Glu331GlyfsTer13)	NC_000023.10:g.140983137del	VUS	1 lab	aa247b4f70
12:1910218 CACNA2D4 G>A	12	1910218	1910218	G	A	CACNA2D4	c.2859C>T	NM_172364.4	NP_758952.4:p.(Pro953=)	NC_000012.11:g.1910218G>A	(Likely) benign	1 lab	aa24d0f8b2
X:85149199 CHM CT>C	X	85149199	85149202	CT	C	CHM	c.1503del	NM_000390.4	NP_000381.1:p.(Gly502AlafsTer7)	NC_000023.10:g.85149202del	(Likely) pathogenic	1 lab	aa25ca76a6
7:69364317 AUTS2 A>T	7	69364317	69364317	A	T	AUTS2	c.355A>T	NM_001127232.2	NP_001120704.1:p.(Thr119Ser)	NC_000007.13:g.69364317A>T	VUS	1 lab	aa26369c58
11:88924489 TYR C>T	11	88924489	88924489	C	T	TYR	c.939C>T	NM_000372.4	NP_000363.1:p.(Pro313=)	NC_000011.9:g.88924489C>T	(Likely) benign	1 lab	aa263d69cf
6:75833783 COL12A1 C>T	6	75833783	75833783	C	T	COL12A1	c.6752G>A	NM_004370.5	NP_004361.3:p.(Arg2251His)	NC_000006.11:g.75833783C>T	(Likely) benign	1 lab	aa27fef971
9:43627720 SPATA31A6 C>T	9	43627720	43627720	C	T	SPATA31A6	c.967G>A	NM_001145196.1	NP_001138668.1:p.(Asp323Asn)	NC_000009.11:g.43627720C>T	(Likely) benign	1 lab	aa28bb11da
18:55816774 NEDD4L C>T	18	55816774	55816774	C	T	NEDD4L	c.7C>T	NM_001144968.1	NP_001138440.1:p.(Arg3Cys)	NC_000018.9:g.55816774C>T	(Likely) benign	1 lab	aa29bd5c02
17:29490227 NF1 A>G	17	29490227	29490227	A	G	NF1	c.312A>G	NM_001042492.2	NP_001035957.1:p.(Leu104=)	NC_000017.10:g.29490227A>G	(Likely) benign	1 lab	aa29c4900d
9:71114257 PGM5 G>A	9	71114257	71114257	G	A	PGM5	c.1594G>A	NM_021965.4	NP_068800.2:p.(Gly532Ser)	NC_000009.11:g.71114257G>A	(Likely) benign	1 lab	aa29eeebc1
X:108718965 GUCY2F A>C	X	108718965	108718965	A	C	GUCY2F	c.201T>G	NM_001522.2	NP_001513.2:p.(Phe67Leu)	NC_000023.10:g.108718965A>C	(Likely) benign	1 lab	aa2a446a41
12:120575068 GCN1 C>T	12	120575068	120575068	C	T	GCN1	c.6719G>A	NM_006836.2	NP_006827.1:p.(Arg2240Gln)	NC_000012.11:g.120575068C>T	VUS	1 lab	aa2aaf4cc7
22:18907089 PRODH G>A	22	18907089	18907089	G	A	PRODH	c.1126C>T	NM_016335.4	NP_057419.4:p.(Arg376Trp)	NC_000022.10:g.18907089G>A	VUS	1 lab	aa2bc4d2e7
1:158623100 SPTA1 C>G	1	158623100	158623100	C	G	SPTA1	c.3152G>C	NM_003126.3	NP_003117.2:p.(Gly1051Ala)	NC_000001.10:g.158623100C>G	(Likely) benign	1 lab	aa3066f0d8
2:16082393 MYCN G>A	2	16082393	16082393	G	A	MYCN	c.207G>A	NM_005378.5	NP_005369.2:p.(Glu69=)	NC_000002.11:g.16082393G>A	(Likely) benign	1 lab	aa32044df3
1:150531134 ADAMTSL4 G>A	1	150531134	150531134	G	A	ADAMTSL4	c.2568G>A	NM_025008.4	NP_079284.2:p.(Pro856=)	NC_000001.10:g.150531134G>A	(Likely) benign	1 lab	aa32b5374e
3:128976706 COPG1 C>A	3	128976706	128976706	C	A	COPG1	c.871+3C>A	NM_016128.4	NP_057212.1:p.?	NC_000003.11:g.128976706C>A	VUS	1 lab	aa32face81
18:77208992 NFATC1 G>A	18	77208992	77208992	G	A	NFATC1	c.1589+8G>A	NM_001278669.1	NP_001265598.1:p.?	NC_000018.9:g.77208992G>A	(Likely) benign	1 lab	aa3674ce76
11:17135952 PIK3C2A G>A	11	17135952	17135952	G	A	PIK3C2A	c.3277C>T	NM_001321378.1	NP_001308307.1:p.(Leu1093Phe)	NC_000011.9:g.17135952G>A	VUS	1 lab	aa37a1ee3d
18:7007194 LAMA1 G>A	18	7007194	7007194	G	A	LAMA1	c.4204C>T	NM_005559.3	NP_005550.2:p.(Pro1402Ser)	NC_000018.9:g.7007194G>A	VUS	1 lab	aa39612876
19:3977289 EEF2 G>A	19	3977289	3977289	G	A	EEF2	c.2307C>T	NM_001961.3	NP_001952.1:p.(His769=)	NC_000019.9:g.3977289G>A	(Likely) benign	1 lab	aa3d1f1802
X:114404882 LRCH2 G>T	X	114404882	114404882	G	T	LRCH2	c.978C>A	NM_020871.3	NP_065922.3:p.(Pro326=)	NC_000023.10:g.114404882G>T	(Likely) benign	1 lab	aa3f330494
4:435957 ZNF721 G>T	4	435957	435957	G	T	ZNF721	c.2299C>A	NM_133474.4	NP_597731.2:p.(His767Asn)	NC_000004.11:g.435957G>T	(Likely) benign	1 lab	aa407e0402
X:53562412 HUWE1 G>C	X	53562412	53562412	G	C	HUWE1	c.12582C>G	NM_031407.6	NP_113584.3:p.(Ala4194=)	NC_000023.10:g.53562412G>C	(Likely) benign	1 lab	aa4095dd43
X:128696350 OCRL G>A	X	128696350	128696350	G	A	OCRL	c.940-11G>A	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128696350G>A	(Likely) pathogenic	1 lab	aa42422dbe
16:50733539 NOD2 G>A	16	50733539	50733539	G	A	NOD2	c.214G>A	NM_022162.1	NP_071445.1:p.(Glu72Lys)	NC_000016.9:g.50733539G>A	VUS	1 lab	aa44c77b60
12:64891418 TBK1 G>A	12	64891418	64891418	G	A	TBK1	c.1960-10G>A	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891418G>A	(Likely) benign	1 lab	aa46c7f1f8
16:50827498 CYLD GA>G	16	50827498	50827499	GA	G	CYLD	c.2393del	NM_001378743.1	NP_001365672.1:p.(Glu798GlyfsTer34)	NC_000016.9:g.50827499del	(Likely) pathogenic	1 lab	aa471fbd1d
2:179296953 PRKRA T>C	2	179296953	179296953	T	C	PRKRA	c.474A>G	NM_001316362.1	NP_001303291.1:p.(Gln158=)	NC_000002.11:g.179296953T>C	(Likely) benign	1 lab	aa4762a7ef
8:32617752 NRG1 G>A	8	32617752	32617752	G	A	NRG1	c.1111G>A	NM_013956.4	NP_039250.2:p.(Glu371Lys)	NC_000008.10:g.32617752G>A	(Likely) benign	1 lab	aa4767eb4f
12:40707851 LRRK2 T>C	12	40707851	40707851	T	C	LRRK2	c.4614T>C	NM_198578.3	NP_940980.3:p.(Arg1538=)	NC_000012.11:g.40707851T>C	(Likely) benign	1 lab	aa481bc2a9
X:24766993 POLA1 A>G	X	24766993	24766993	A	G	POLA1	c.2830A>G	NM_016937.3	NP_058633.2:p.(Ile944Val)	NC_000023.10:g.24766993A>G	VUS	1 lab	aa4a725cb6
6:110037655 FIG4 A>G	6	110037655	110037655	A	G	FIG4	c.173A>G	NM_014845.5	NP_055660.1:p.(Tyr58Cys)	NC_000006.11:g.110037655A>G	VUS	1 lab	aa4abe2c1c
7:92731605 SAMD9 TC>T	7	92731605	92731606	TC	T	SAMD9	c.3805del	NM_017654.4	NP_060124.2:p.(Asp1269IlefsTer10)	NC_000007.13:g.92731606del	VUS	1 lab	aa4fa9842b
6:71004271 COL9A1 G>T	6	71004271	71004271	G	T	COL9A1	c.300-5C>A	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.71004271G>T	(Likely) benign	1 lab	aa51c80d16
4:140394017 RAB33B C>T	4	140394017	140394017	C	T	RAB33B	c.427C>T	NM_031296.2	NP_112586.1:p.(Arg143Trp)	NC_000004.11:g.140394017C>T	VUS	1 lab	aa529544f7
5:140075180 HARS2 A>AC	5	140075180	140075182	A	AC	HARS2	c.489dup	NM_012208.3	NP_036340.1:p.(Ile164HisfsTer7)	NC_000005.9:g.140075182dup	(Likely) pathogenic	1 lab	aa52a74ef1
17:42428165 GRN C>A	17	42428165	42428165	C	A	GRN	c.705C>A	NM_002087.2	NP_002078.1:p.(Pro235=)	NC_000017.10:g.42428165C>A	(Likely) benign	1 lab	aa53b9a6f7
13:51530585 RNASEH2B A>C	13	51530585	51530585	A	C	RNASEH2B	c.914A>C	NM_024570.3	NP_078846.2:p.(Asn305Thr)	NC_000013.10:g.51530585A>C	(Likely) benign	1 lab	aa55c6c1f2
10:75868729 VCL C>T	10	75868729	75868729	C	T	VCL	c.2560C>T	NM_014000.2	NP_054706.1:p.(Leu854=)	NC_000010.10:g.75868729C>T	(Likely) benign	1 lab	aa55cfaf00
11:6585148 DNHD1 G>T	11	6585148	6585148	G	T	DNHD1	c.10078G>T	NM_144666.2	NP_653267.2:p.(Glu3360Ter)	NC_000011.9:g.6585148G>T	VUS	1 lab	aa583a6cca
13:103504650 ERCC5 G>A	13	103504650	103504650	G	A	ERCC5	c.264+7G>A	NM_000123.3	NP_000114.2:p.?	NC_000013.10:g.103504650G>A	(Likely) benign	1 lab	aa5864877f
X:102192900 RAB40AL A>G	X	102192900	102192900	A	G	RAB40AL	c.654A>G	NM_001031834.1	NP_001027004.1:p.(Leu218=)	NC_000023.10:g.102192900A>G	(Likely) benign	1 lab	aa586a45ca
2:227942778 COL4A4 C>T	2	227942778	227942778	C	T	COL4A4	c.1819G>A	NM_000092.4	NP_000083.3:p.(Ala607Thr)	NC_000002.11:g.227942778C>T	VUS	1 lab	aa5e713910
17:29508509 NF1 TA>T	17	29508509	29508511	TA	T	NF1	c.654+4del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508511del	VUS	1 lab	aa5e7357be
19:9046201 MUC16 A>G	19	9046201	9046201	A	G	MUC16	c.35430T>C	NM_024690.2	NP_078966.2:p.(Thr11810=)	NC_000019.9:g.9046201A>G	(Likely) benign	1 lab	aa5e8eea0e
8:62559353 ASPH A>G	8	62559353	62559353	A	G	ASPH	c.575T>C	NM_004318.3	NP_004309.2:p.(Val192Ala)	NC_000008.10:g.62559353A>G	(Likely) benign	1 lab	aa65358580
4:113568442 LARP7 A>G	4	113568442	113568442	A	G	LARP7	c.755A>G	NM_001267039.1	NP_001253968.1:p.(Asn252Ser)	NC_000004.11:g.113568442A>G	(Likely) benign	1 lab	aa668fdda0
6:158923451 TULP4 C>T	6	158923451	158923451	C	T	TULP4	c.2756C>T	NM_020245.5	NP_064630.2:p.(Pro919Leu)	NC_000006.11:g.158923451C>T	VUS	1 lab	aa67d7862a
8:30694382 TEX15 G>A	8	30694382	30694382	G	A	TEX15	c.9418C>T	NM_001350162.1	NP_001337091.1:p.(Pro3140Ser)	NC_000008.10:g.30694382G>A	VUS	1 lab	aa680b0000
6:152527320 SYNE1 G>C	6	152527320	152527320	G	C	SYNE1	c.23002C>G	NM_182961.3	NP_892006.3:p.(Leu7668Val)	NC_000006.11:g.152527320G>C	VUS	1 lab	aa68201d62
1:36564142 COL8A2 C>G	1	36564142	36564142	C	G	COL8A2	c.1140G>C	NM_005202.3	NP_005193.1:p.(Glu380Asp)	NC_000001.10:g.36564142C>G	(Likely) benign	1 lab	aa6a26e91f
17:8791782 PIK3R5 C>T	17	8791782	8791782	C	T	PIK3R5	c.164G>A	NM_001251851.1	NP_001238780.1:p.(Arg55Gln)	NC_000017.10:g.8791782C>T	(Likely) benign	1 lab	aa6d026f2c
6:129609189 LAMA2 C>T	6	129609189	129609189	C	T	LAMA2	c.2735C>T	NM_000426.3	NP_000417.2:p.(Ala912Val)	NC_000006.11:g.129609189C>T	VUS	1 lab	aa6e54ea8a
12:39761830 KIF21A T>C	12	39761830	39761830	T	C	KIF21A	c.455A>G	NM_001173464.1	NP_001166935.1:p.(Tyr152Cys)	NC_000012.11:g.39761830T>C	VUS	1 lab	aa6fbe92fa
16:31092186 ZNF646 A>T	16	31092186	31092186	A	T	ZNF646	c.4541A>T	NM_014699.3	NP_055514.3:p.(Asp1514Val)	NC_000016.9:g.31092186A>T	(Likely) benign	1 lab	aa7003dd23
X:107447592 COL4A6 C>G	X	107447592	107447592	C	G	COL4A6	c.738G>C	NM_001287758.1	NP_001274687.1:p.(Glu246Asp)	NC_000023.10:g.107447592C>G	(Likely) benign	1 lab	aa7128ab16
11:6411930 SMPD1 C>CCTGGCG	11	6411930	6411935	C	CCTGGCG	SMPD1	c.106_107insCGCTGG	NM_000543.4	NP_000534.3:p.(Leu35_Val36insAlaLeu)	NC_000011.9:g.6411934_6411935insCGCTGG	(Likely) benign	1 lab	aa72a3e7ad
4:15560871 CC2D2A C>A	4	15560871	15560871	C	A	CC2D2A	c.2913C>A	NM_001080522.2	NP_001073991.2:p.(Tyr971Ter)	NC_000004.11:g.15560871C>A	(Likely) pathogenic	1 lab	aa72fed2c3
11:102665933 MMP1 G>A	11	102665933	102665933	G	A	MMP1	c.871C>T	NM_002421.3	NP_002412.1:p.(Arg291Trp)	NC_000011.9:g.102665933G>A	VUS	1 lab	aa736ce306
X:105124232 NRK T>A	X	105124232	105124232	T	A	NRK	c.164T>A	NM_198465.3	NP_940867.2:p.(Val55Glu)	NC_000023.10:g.105124232T>A	VUS	1 lab	aa7470b691
11:130060496 ST14 G>A	11	130060496	130060496	G	A	ST14	c.782G>A	NM_021978.3	NP_068813.1:p.(Arg261His)	NC_000011.9:g.130060496G>A	(Likely) benign	1 lab	aa74de78de
17:43527989 PLEKHM1 G>A	17	43527989	43527989	G	A	PLEKHM1	c.2638C>T	NM_014798.2	NP_055613.1:p.(Arg880Cys)	NC_000017.10:g.43527989G>A	VUS	1 lab	aa767a34ce
3:45588882 LARS2 C>A	3	45588882	45588882	C	A	LARS2	c.2572C>A	NM_015340.4	NP_056155.1:p.(Gln858Lys)	NC_000003.11:g.45588882C>A	(Likely) benign	1 lab	aa76c8a437
4:185615675 CENPU GGAA>G	4	185615675	185615683	GGAA	G	CENPU	c.*764_*766del	NM_024629.4	NP_078905.2:p.?	NC_000004.11:g.185615681_185615683del	VUS	1 lab	aa78b36d85
17:29298414 RNF135 C>T	17	29298414	29298414	C	T	RNF135	c.323C>T	NM_001184992.1	NP_001171921.1:p.(Ser108Phe)	NC_000017.10:g.29298414C>T	(Likely) benign	1 lab	aa78c83860
16:77387748 ADAMTS18 T>C	16	77387748	77387748	T	C	ADAMTS18	c.980A>G	NM_001326358.1	NP_001313287.1:p.(Lys327Arg)	NC_000016.9:g.77387748T>C	(Likely) benign	1 lab	aa7bb40675
16:30124766 GDPD3 G>C	16	30124766	30124766	G	C	GDPD3	c.34C>G	NM_024307.3	NP_077283.2:p.(Leu12Val)	NC_000016.9:g.30124766G>C	VUS	1 lab	aa7bc9c6a8
X:30237517 MAGEB2 C>T	X	30237517	30237517	C	T	MAGEB2	c.820C>T	NM_002364.4	NP_002355.2:p.(Leu274=)	NC_000023.10:g.30237517C>T	(Likely) benign	1 lab	aa7c459c91
21:35166782 ITSN1 C>T	21	35166782	35166782	C	T	ITSN1	c.1952+10C>T	NM_001331010.1	NP_001317939.1:p.?	NC_000021.8:g.35166782C>T	(Likely) benign	1 lab	aa7c7a694b
X:138670598 MCF2 C>G	X	138670598	138670598	C	G	MCF2	c.2599-1G>C	NM_001171876.1	NP_001165347.1:p.?	NC_000023.10:g.138670598C>G	VUS	1 lab	aa7d800caf
2:54857992 SPTBN1 G>A	2	54857992	54857992	G	A	SPTBN1	c.2808G>A	NM_003128.2	NP_003119.2:p.(Arg936=)	NC_000002.11:g.54857992G>A	(Likely) benign	1 lab	aa7ec7bbb7
6:143091736 HIVEP2 G>A	6	143091736	143091736	G	A	HIVEP2	c.4140C>T	NM_006734.3	NP_006725.3:p.(Thr1380=)	NC_000006.11:g.143091736G>A	(Likely) benign	1 lab	aa82aafba0
17:3397712 ASPA G>A	17	3397712	3397712	G	A	ASPA				NC_000017.10:g.3397712G>A	(Likely) benign	1 lab	aa831ae06b
19:1496404 REEP6 G>A	19	1496404	1496404	G	A	REEP6	c.469G>A	NM_001329556.2	NP_001316485.1:p.(Asp157Asn)	NC_000019.9:g.1496404G>A	(Likely) benign	1 lab	aa83f313be
21:40619631 BRWD1 C>A	21	40619631	40619631	C	A	BRWD1	c.2477G>T	NM_033656.3	NP_387505.1:p.(Arg826Ile)	NC_000021.8:g.40619631C>A	VUS	1 lab	aa83fb2aa6
13:37393827 RFXAP A>G	13	37393827	37393827	A	G	RFXAP	c.333A>G	NM_000538.3	NP_000529.1:p.(Leu111=)	NC_000013.10:g.37393827A>G	(Likely) benign	1 lab	aa842b3ed0
2:220435000 OBSL1 A>C	2	220435000	220435000	A	C	OBSL1	c.955T>G	NM_015311.2	NP_056126.1:p.(Cys319Gly)	NC_000002.11:g.220435000A>C	(Likely) benign	1 lab	aa84791f22
19:40882567 PLD3 C>T	19	40882567	40882567	C	T	PLD3	c.1071C>T	NM_012268.3	NP_036400.2:p.(Gly357=)	NC_000019.9:g.40882567C>T	(Likely) benign	1 lab	aa84a4f192
6:157522082 ARID1B C>A	6	157522082	157522082	C	A	ARID1B	c.4474C>A	NM_001346813.1	NP_001333742.1:p.(Leu1492Met)	NC_000006.11:g.157522082C>A	(Likely) benign	1 lab	aa85236174
19:16606600 CALR3 G>A	19	16606600	16606600	G	A	CALR3	c.155C>T	NM_145046.5	NP_659483.2:p.(Ser52Leu)	NC_000019.9:g.16606600G>A	VUS	1 lab	3d6ab9ce54
8:87666246 CNGB3 TTTTGTAGAAG>T	8	87666246	87666257	TTTTGTAGAAG	T	CNGB3	c.887_896del	NM_019098.5	NP_061971.3:p.(Thr296AsnfsTer9)	NC_000008.10:g.87666248_87666257del	(Likely) pathogenic	1 lab	aa86d8d94f
16:90097893 DRC4 G>A	16	90097893	90097893	G	A	DRC4	c.28G>A	NM_001286205.1	NP_001273134.1:p.(Val10Met)	NC_000016.9:g.90097893G>A	VUS	1 lab	aa870b77c5
12:48375180 COL2A1 C>T	12	48375180	48375180	C	T	COL2A1	c.2410-1G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48375180C>T	(Likely) pathogenic	1 lab	aa87a67954
11:6661387 DCHS1 C>T	11	6661387	6661387	C	T	DCHS1				NC_000011.9:g.6661387C>T	(Likely) benign	1 lab	aa8824d4e6
2:182430207 CERKL A>G	2	182430207	182430207	A	G	CERKL	c.708T>C	NM_001030311.2	NP_001025482.1:p.(His236=)	NC_000002.11:g.182430207A>G	(Likely) benign	1 lab	aa8976c135
X:18622758 CDKL5 A>T	X	18622758	18622758	A	T	CDKL5	c.1714A>T	NM_003159.2	NP_003150.1:p.(Lys572Ter)	NC_000023.10:g.18622758A>T	(Likely) pathogenic	1 lab	aa8a527c3b
X:153592965 FLNA T>C	X	153592965	153592965	T	C	FLNA	c.1951A>G	NM_001110556.2	NP_001104026.1:p.(Ser651Gly)	NC_000023.10:g.153592965T>C	(Likely) benign	1 lab	aa8bed3bc8
9:2823821 PUM3 A>G	9	2823821	2823821	A	G	PUM3	c.1148T>C	NM_014878.5	NP_055693.4:p.(Ile383Thr)	NC_000009.11:g.2823821A>G	VUS	1 lab	aa8c9935a6
X:148585003 IDS G>A	X	148585003	148585003	G	A	IDS	c.257C>T	NM_000202.7	NP_000193.1:p.(Pro86Leu)	NC_000023.10:g.148585003G>A	(Likely) pathogenic	1 lab	aa8d0ec1e0
X:7811854 VCX G>A	X	7811854	7811854	G	A	VCX	c.418G>A	NM_013452.2	NP_038480.2:p.(Val140Met)	NC_000023.10:g.7811854G>A	(Likely) benign	1 lab	aa8e9cf467
2:130931095 SMPD4 G>A	2	130931095	130931095	G	A	SMPD4	c.378C>T	NM_017951.4	NP_060421.2:p.(Leu126=)	NC_000002.11:g.130931095G>A	(Likely) benign	1 lab	aa8ee96b17
14:88406295 GALC A>T	14	88406295	88406295	A	T	GALC	c.1865T>A	NM_000153.3	NP_000144.2:p.(Val622Asp)	NC_000014.8:g.88406295A>T	(Likely) benign	1 lab	aa90059c1b
6:111694302 REV3L T>A	6	111694302	111694302	T	A	REV3L	c.5022A>T	NM_001286431.1	NP_001273360.1:p.(Thr1674=)	NC_000006.11:g.111694302T>A	(Likely) benign	1 lab	aa90769236
X:12736658 FRMPD4 C>T	X	12736658	12736658	C	T	FRMPD4	c.3713C>T	NM_014728.3	NP_055543.2:p.(Pro1238Leu)	NC_000023.10:g.12736658C>T	(Likely) benign	1 lab	aa90dbaeae
16:75238712 CTRB2 C>T	16	75238712	75238712	C	T	CTRB2	c.589G>A	NM_001025200.4	NP_001020371.3:p.(Val197Met)	NC_000016.9:g.75238712C>T	VUS	1 lab	aa919da109
12:57496651 STAT6 G>T	12	57496651	57496651	G	T	STAT6	c.1266C>A	NM_001178078.1	NP_001171549.1:p.(Ala422=)	NC_000012.11:g.57496651G>T	(Likely) benign	1 lab	aa91b162c6
2:228118041 COL4A3 T>G	2	228118041	228118041	T	G	COL4A3	c.675T>G	NM_000091.4	NP_000082.2:p.(His225Gln)	NC_000002.11:g.228118041T>G	(Likely) benign	1 lab	aa9302f832
9:139391987 NOTCH1 G>A	9	139391987	139391987	G	A	NOTCH1	c.6204C>T	NM_017617.5	NP_060087.3:p.(Ala2068=)	NC_000009.11:g.139391987G>A	(Likely) benign	1 lab	aa93dedfa7
10:79814609 RPS24 C>T	10	79814609	79814609	C	T	RPS24	c.711C>T	NM_001142285.1	NP_001135757.1:p.(Asp237=)	NC_000010.10:g.79814609C>T	(Likely) benign	1 lab	aa956b7e59
10:102750719 TWNK G>A	10	102750719	102750719	G	A	TWNK	c.1686G>A	NM_001163812.1	NP_001157284.1:p.(Glu562=)	NC_000010.10:g.102750719G>A	(Likely) benign	1 lab	aa956e2872
14:105413631 AHNAK2 G>A	14	105413631	105413631	G	A	AHNAK2	c.8157C>T	NM_138420.3	NP_612429.2:p.(Gly2719=)	NC_000014.8:g.105413631G>A	(Likely) benign	1 lab	aa95815af8
X:149638391 MAMLD1 G>C	X	149638391	149638391	G	C	MAMLD1	c.546G>C	NM_005491.4	NP_005482.2:p.(Glu182Asp)	NC_000023.10:g.149638391G>C	VUS	1 lab	aa960ee0e1
15:28479308 HERC2 G>A	15	28479308	28479308	G	A	HERC2	c.4126C>T	NM_004667.5	NP_004658.3:p.(Arg1376Ter)	NC_000015.9:g.28479308G>A	(Likely) pathogenic	1 lab	aa96d94cf8
5:140076833 HARS2 C>G	5	140076833	140076833	C	G	HARS2	c.1039C>G	NM_012208.3	NP_036340.1:p.(Gln347Glu)	NC_000005.9:g.140076833C>G	VUS	1 lab	aa97ecce9a
4:39460753 LIAS G>A	4	39460753	39460753	G	A	LIAS	c.16G>A	NM_006859.3	NP_006850.2:p.(Gly6Arg)	NC_000004.11:g.39460753G>A	(Likely) benign	1 lab	aa984b9bba
2:62066922 FAM161A C>T	2	62066922	62066922	C	T	FAM161A	c.1217G>A	NM_001201543.1	NP_001188472.1:p.(Cys406Tyr)	NC_000002.11:g.62066922C>T	VUS	1 lab	aa98cf2ff1
14:105413190 AHNAK2 G>A	14	105413190	105413190	G	A	AHNAK2	c.8598C>T	NM_138420.3	NP_612429.2:p.(Pro2866=)	NC_000014.8:g.105413190G>A	(Likely) benign	1 lab	aa98f1eba0
17:29528127 NF1 T>C	17	29528127	29528127	T	C	NF1	c.1135T>C	NM_000267.3	NP_000258.1:p.(Cys379Arg)	NC_000017.10:g.29528127T>C	(Likely) pathogenic	1 lab	aa99005389
8:48794506 PRKDC C>T	8	48794506	48794506	C	T	PRKDC	c.4929G>A	NM_006904.6	NP_008835.5:p.(Met1643Ile)	NC_000008.10:g.48794506C>T	(Likely) benign	1 lab	aa994dc030
19:45924574 ERCC1 G>A	19	45924574	45924574	G	A	ERCC1	c.183C>T	NM_001983.3	NP_001974.1:p.(Ala61=)	NC_000019.9:g.45924574G>A	(Likely) benign	1 lab	aa9a43738a
10:55826535 PCDH15 G>A	10	55826535	55826535	G	A	PCDH15	c.2202C>T	NM_001354429.1	NP_001341358.1:p.(Ala734=)	NC_000010.10:g.55826535G>A	(Likely) benign	1 lab	aa9ab68129
11:68201203 LRP5 C>T	11	68201203	68201203	C	T	LRP5	c.2154C>T	NM_001291902.1	NP_001278831.1:p.(Ser718=)	NC_000011.9:g.68201203C>T	(Likely) benign	1 lab	aa9ac9b5b9
7:4830176 AP5Z1 G>A	7	4830176	4830176	G	A	AP5Z1	c.1892G>A	NM_014855.3	NP_055670.1:p.(Gly631Asp)	NC_000007.13:g.4830176G>A	VUS	1 lab	aa9d76424f
19:51843858 VSIG10L C>A	19	51843858	51843858	C	A	VSIG10L	c.1018G>T	NM_001163922.2	NP_001157394.1:p.(Gly340Ter)	NC_000019.9:g.51843858C>A	VUS	1 lab	aa9edcb1b8
1:103364294 COL11A1 G>A	1	103364294	103364294	G	A	COL11A1	c.4212C>T	NM_080629.2	NP_542196.2:p.(Thr1404=)	NC_000001.10:g.103364294G>A	(Likely) benign	1 lab	aa9f673de8
X:48887724 TFE3 G>A	X	48887724	48887724	G	A	TFE3	c.1673C>T	NM_006521.5	NP_006512.2:p.(Ala558Val)	NC_000023.10:g.48887724G>A	(Likely) benign	1 lab	aa9ff3f1f6
16:78148974 WWOX C>G	16	78148974	78148974	C	G	WWOX	c.332C>G	NM_016373.3	NP_057457.1:p.(Thr111Ser)	NC_000016.9:g.78148974C>G	(Likely) benign	1 lab	aaa09d5962
8:145007362 PLEC C>T	8	145007362	145007362	C	T	PLEC	c.1829+3G>A	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145007362C>T	(Likely) benign	1 lab	aaa16fd411
10:56423960 PCDH15 A>G	10	56423960	56423960	A	G	PCDH15	c.63T>C	NM_001354429.1	NP_001341358.1:p.(Phe21=)	NC_000010.10:g.56423960A>G	(Likely) benign	1 lab	aaa1a7f1af
8:38006160 STAR G>A	8	38006160	38006160	G	A	STAR	c.177C>T	NM_000349.2	NP_000340.2:p.(Leu59=)	NC_000008.10:g.38006160G>A	(Likely) benign	1 lab	aaa31fd7ae
3:147108829 ZIC4 T>C	3	147108829	147108829	T	C	ZIC4	c.1043A>G	NM_001168378.1	NP_001161850.1:p.(Tyr348Cys)	NC_000003.11:g.147108829T>C	VUS	1 lab	aaa3952ae3
X:102004405 GPRASP3 C>G	X	102004405	102004405	C	G	GPRASP3	c.482C>G	NM_001142524.2	NP_001135996.1:p.(Pro161Arg)	NC_000023.10:g.102004405C>G	(Likely) benign	1 lab	aaa3d42aed
1:68613845 WLS T>C	1	68613845	68613845	T	C	WLS	c.1108A>G	NM_024911.7	NP_079187.3:p.(Thr370Ala)	NC_000001.10:g.68613845T>C	(Likely) benign	1 lab	aaa8f5dceb
4:15995666 PROM1 C>T	4	15995666	15995666	C	T	PROM1	c.1684G>A	NM_001145847.1	NP_001139319.1:p.(Gly562Ser)	NC_000004.11:g.15995666C>T	(Likely) benign	1 lab	aaaa9d1371
6:123824925 TRDN TG>T	6	123824925	123824927	TG	T	TRDN	c.731del	NM_006073.4	NP_006064.2:p.(Pro244HisfsTer30)	NC_000006.11:g.123824927del	(Likely) pathogenic	1 lab	aaab69bf46
20:50401201 SALL4 G>A	20	50401201	50401201	G	A	SALL4	c.1454C>T	NM_001318031.1	NP_001304960.1:p.(Ala485Val)	NC_000020.10:g.50401201G>A	(Likely) benign	1 lab	aaabf27e36
19:1061892 ABCA7 G>C	19	1061892	1061892	G	C	ABCA7	c.5570+5G>C	NM_019112.3	NP_061985.2:p.?	NC_000019.9:g.1061892G>C	(Likely) benign	1 lab	aaacda0b78
X:31986484 DMD A>T	X	31986484	31986484	A	T	DMD	c.6217T>A	NM_004010.3	NP_004001.1:p.(Cys2073Ser)	NC_000023.10:g.31986484A>T	(Likely) benign	1 lab	aaae6f7412
14:23885338 MYH7 C>T	14	23885338	23885338	C	T	MYH7	c.4828G>A	NM_000257.2	NP_000248.2:p.(Glu1610Lys)	NC_000014.8:g.23885338C>T	(Likely) pathogenic	1 lab	aaaf579927
X:152968381 BCAP31 G>A	X	152968381	152968381	G	A	BCAP31	c.802+9C>T	NM_001139457.2	NP_001132929.1:p.?	NC_000023.10:g.152968381G>A	(Likely) benign	1 lab	aab16f45af
19:55568048 RDH13 G>C	19	55568048	55568048	G	C	RDH13	c.100C>G	NM_138412.3	NP_612421.1:p.(Arg34Gly)	NC_000019.9:g.55568048G>C	VUS	1 lab	aab18ee2c6
17:78184452 SGSH C>G	17	78184452	78184452	C	G	SGSH	c.1308G>C	NM_000199.4	NP_000190.1:p.(Trp436Cys)	NC_000017.10:g.78184452C>G	VUS	1 lab	aab1a9489f
2:163130442 IFIH1 C>A	2	163130442	163130442	C	A	IFIH1	c.2317G>T	NM_022168.4	NP_071451.2:p.(Glu773Ter)	NC_000002.11:g.163130442C>A	(Likely) pathogenic	1 lab	aab29369a4
17:29667506 NF1 CAT>C	17	29667506	29667510	CAT	C	NF1	c.6922-14_6922-13del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29667509_29667510del	(Likely) benign	1 lab	aab442b7c3
8:124664065 KLHL38 G>C	8	124664065	124664065	G	C	KLHL38	c.1102C>G	NM_001081675.3	NP_001075144.2:p.(Pro368Ala)	NC_000008.10:g.124664065G>C	VUS	1 lab	aab4fea056
3:180702494 DNAJC19 T>G	3	180702494	180702494	T	G	DNAJC19	c.210A>C	NM_001190233.1	NP_001177162.1:p.(Gly70=)	NC_000003.11:g.180702494T>G	(Likely) benign	1 lab	aab5502fbe
1:161518315 FCGR3A G>A	1	161518315	161518315	G	A	FCGR3A	c.530C>T	NM_000569.7	NP_000560.6:p.(Ser177Leu)	NC_000001.10:g.161518315G>A	VUS	1 lab	aab6c3165a
9:18908462 ADAMTSL1 G>C	9	18908462	18908462	G	C	ADAMTSL1	c.5205G>C	NM_001040272.6	NP_001035362.3:p.(Arg1735Ser)	NC_000009.11:g.18908462G>C	VUS	1 lab	aab6e5e21c
16:88497572 ZNF469 G>A	16	88497572	88497572	G	A	ZNF469				NC_000016.9:g.88497572G>A	(Likely) benign	1 lab	aab7740c1e
X:53226186 KDM5C C>T	X	53226186	53226186	C	T	KDM5C	c.2663G>A	NM_004187.3	NP_004178.2:p.(Arg888His)	NC_000023.10:g.53226186C>T	(Likely) benign	1 lab	aab8252dc0
11:12923660 TEAD1 GGTGA>G	11	12923660	12923666	GGTGA	G	TEAD1	c.873+3_873+6del	NM_021961.6	NP_068780.2:p.?	NC_000011.9:g.12923663_12923666del	(Likely) benign	1 lab	aab8c659a0
3:155571618 SLC33A1 C>G	3	155571618	155571618	C	G	SLC33A1	c.169G>C	NM_004733.3	NP_004724.1:p.(Gly57Arg)	NC_000003.11:g.155571618C>G	(Likely) benign	1 lab	aabc80f2a4
1:23240208 EPHB2 C>T	1	23240208	23240208	C	T	EPHB2	c.3013C>T	NM_001309193.1	NP_001296122.1:p.(Arg1005Ter)	NC_000001.10:g.23240208C>T	(Likely) pathogenic	1 lab	aabce73db0
17:29548947 NF1 G>A	17	29548947	29548947	G	A	NF1	c.1721G>A	NM_000267.3	NP_000258.1:p.(Ser574Asn)	NC_000017.10:g.29548947G>A	(Likely) pathogenic	1 lab	aabd40d95d
11:121416002 SORL1 C>T	11	121416002	121416002	C	T	SORL1	c.1915C>T	NM_003105.5	NP_003096.1:p.(Arg639Trp)	NC_000011.9:g.121416002C>T	VUS	1 lab	aabde991de
12:89819072 POC1B C>T	12	89819072	89819072	C	T	POC1B	c.1198G>A	NM_172240.2	NP_758440.1:p.(Glu400Lys)	NC_000012.11:g.89819072C>T	VUS	1 lab	aac0dadd7a
6:43336952 ZNF318 C>T	6	43336952	43336952	C	T	ZNF318	c.152G>A	NM_014345.3	NP_055160.2:p.(Arg51Gln)	NC_000006.11:g.43336952C>T	VUS	1 lab	aac0dc2be7
12:116429528 MED13L G>A	12	116429528	116429528	G	A	MED13L	c.3231C>T	NM_015335.4	NP_056150.1:p.(Thr1077=)	NC_000012.11:g.116429528G>A	(Likely) benign	1 lab	aac1ce5d83
7:103216084 RELN C>T	7	103216084	103216084	C	T	RELN	c.4214G>A	NM_005045.3	NP_005036.2:p.(Gly1405Glu)	NC_000007.13:g.103216084C>T	VUS	1 lab	aac1ebcafc
19:15053008 OR7C2 C>CT	19	15053008	15053012	C	CT	OR7C2	c.712dup	NM_012377.1	NP_036509.1:p.(Ser238PhefsTer31)	NC_000019.9:g.15053012dup	VUS	1 lab	aac2c4f0ce
17:11572799 DNAH9 C>T	17	11572799	11572799	C	T	DNAH9	c.3041C>T	NM_001372.3	NP_001363.2:p.(Ser1014Leu)	NC_000017.10:g.11572799C>T	VUS	1 lab	aace22a444
X:2836140 ARSD G>A	X	2836140	2836140	G	A	ARSD	c.568C>T	NM_001669.3	NP_001660.2:p.(Pro190Ser)	NC_000023.10:g.2836140G>A	(Likely) benign	1 lab	aac3e52b91
11:118926843 HYOU1 C>T	11	118926843	118926843	C	T	HYOU1	c.30G>A	NM_006389.5	NP_006380.1:p.(Pro10=)	NC_000011.9:g.118926843C>T	(Likely) benign	1 lab	aac406ecce
13:48571087 SUCLA2 TGA>T	13	48571087	48571093	TGA	T	SUCLA2	c.160_161del	NM_003850.3	NP_003841.1:p.(Ser54ThrfsTer3)	NC_000013.10:g.48571092_48571093del	(Likely) pathogenic	1 lab	aac4372a36
3:186953886 MASP1 G>A	3	186953886	186953886	G	A	MASP1	c.1773C>T	NM_139125.3	NP_624302.1:p.(Ala591=)	NC_000003.11:g.186953886G>A	(Likely) benign	1 lab	aac4462e8e
X:131211958 FRMD7 T>C	X	131211958	131211958	T	C	FRMD7	c.2087A>G	NM_194277.2	NP_919253.1:p.(Asn696Ser)	NC_000023.10:g.131211958T>C	(Likely) benign	1 lab	aac507d60c
5:135390518 TGFBI G>A	5	135390518	135390518	G	A	TGFBI	c.1378G>A	NM_000358.2	NP_000349.1:p.(Gly460Ser)	NC_000005.9:g.135390518G>A	VUS	1 lab	aaca0d279a
6:99885125 USP45 G>A	6	99885125	99885125	G	A	USP45	c.2311C>T	NM_001080481.1	NP_001073950.1:p.(Pro771Ser)	NC_000006.11:g.99885125G>A	VUS	1 lab	aaca174ddf
14:95677042 CLMN G>C	14	95677042	95677042	G	C	CLMN	c.783C>G	NM_024734.4	NP_079010.2:p.(Pro261=)	NC_000014.8:g.95677042G>C	(Likely) benign	1 lab	aaca27a2e9
11:2191969 TH G>A	11	2191969	2191969	G	A	TH	c.134C>T	NM_199292.2	NP_954986.2:p.(Pro45Leu)	NC_000011.9:g.2191969G>A	(Likely) benign	1 lab	aacc962ff8
3:132249908 DNAJC13 A>G	3	132249908	132249908	A	G	DNAJC13	c.6592A>G	NM_015268.4	NP_056083.3:p.(Ile2198Val)	NC_000003.11:g.132249908A>G	VUS	1 lab	aacd57dff4
X:149826428 MTM1 C>T	X	149826428	149826428	C	T	MTM1	c.1188C>T	NM_000252.2	NP_000243.1:p.(Phe396=)	NC_000023.10:g.149826428C>T	(Likely) benign	1 lab	aad2d0fbe1
8:11990187 USP17L7 G>A	8	11990187	11990187	G	A	USP17L7	c.1332C>T	NM_001256869.1	NP_001243798.1:p.(Asn444=)	NC_000008.10:g.11990187G>A	(Likely) benign	1 lab	aad49fcfc7
X:105451500 PWWP3B C>T	X	105451500	105451500	C	T	PWWP3B	c.2075C>T	NM_152423.4	NP_689636.3:p.(Thr692Ile)	NC_000023.10:g.105451500C>T	(Likely) benign	1 lab	aad5a34036
10:127503703 UROS C>A	10	127503703	127503703	C	A	UROS	c.148-4G>T	NM_001324039.1	NP_001310968.1:p.?	NC_000010.10:g.127503703C>A	(Likely) benign	1 lab	aad7d4746d
X:144905479 SLITRK2 A>G	X	144905479	144905479	A	G	SLITRK2	c.1536A>G	NM_032539.4	NP_115928.1:p.(Lys512=)	NC_000023.10:g.144905479A>G	(Likely) benign	1 lab	aad95483b3
16:77323275 ADAMTS18 G>T	16	77323275	77323275	G	T	ADAMTS18	c.2920C>A	NM_001326358.1	NP_001313287.1:p.(Arg974=)	NC_000016.9:g.77323275G>T	(Likely) benign	1 lab	aadb40b924
X:153035988 PLXNB3 G>A	X	153035988	153035988	G	A	PLXNB3	c.1970G>A	NM_001163257.1	NP_001156729.1:p.(Arg657His)	NC_000023.10:g.153035988G>A	(Likely) benign	1 lab	aadb53eb0d
15:85401550 ALPK3 G>A	15	85401550	85401550	G	A	ALPK3	c.4187G>A	NM_020778.4	NP_065829.3:p.(Arg1396Gln)	NC_000015.9:g.85401550G>A	VUS	1 lab	aadbb309cd
12:57437748 MYO1A G>A	12	57437748	57437748	G	A	MYO1A	c.784C>T	NM_001256041.1	NP_001242970.1:p.(Arg262Ter)	NC_000012.11:g.57437748G>A	VUS	1 lab	aadc003b28
19:41928604 BCKDHA C>T	19	41928604	41928604	C	T	BCKDHA	c.924C>T	NM_000709.3	NP_000700.1:p.(Asn308=)	NC_000019.9:g.41928604C>T	(Likely) benign	1 lab	aae3fd2301
9:127618007 WDR38 G>A	9	127618007	127618007	G	A	WDR38	c.285G>A	NM_001276374.1	NP_001263303.1:p.(Ala95=)	NC_000009.11:g.127618007G>A	(Likely) benign	1 lab	aae5939080
7:44714137 OGDH A>G	7	44714137	44714137	A	G	OGDH	c.916A>G	NM_002541.3	NP_002532.2:p.(Ile306Val)	NC_000007.13:g.44714137A>G	(Likely) benign	1 lab	aae7c80b30
3:195507089 MUC4 C>T	3	195507089	195507089	C	T	MUC4	c.11362G>A	NM_018406.6	NP_060876.5:p.(Gly3788Ser)	NC_000003.11:g.195507089C>T	VUS	1 lab	aae8e3b703
22:37261097 NCF4 C>A	22	37261097	37261097	C	A	NCF4	c.254C>A	NM_013416.3	NP_038202.2:p.(Thr85Asn)	NC_000022.10:g.37261097C>A	(Likely) benign	1 lab	aae9ce1d5b
19:38126077 ZFP30 T>C	19	38126077	38126077	T	C	ZFP30	c.1365A>G	NM_001320666.2	NP_001307595.1:p.(Gln455=)	NC_000019.9:g.38126077T>C	(Likely) benign	1 lab	aaeac97fd8
20:41514512 PTPRT T>C	20	41514512	41514512	T	C	PTPRT	c.149A>G	NM_133170.3	NP_573400.3:p.(Asn50Ser)	NC_000020.10:g.41514512T>C	VUS	1 lab	aaeae6987b
9:132640641 USP20 G>A	9	132640641	132640641	G	A	USP20	c.2434G>A	NM_006676.7	NP_006667.3:p.(Glu812Lys)	NC_000009.11:g.132640641G>A	VUS	1 lab	aaeb335f24
18:50985787 DCC A>G	18	50985787	50985787	A	G	DCC	c.3578A>G	NM_005215.3	NP_005206.2:p.(Gln1193Arg)	NC_000018.9:g.50985787A>G	VUS	1 lab	aaeb4c21df
X:114426241 RBMXL3 G>A	X	114426241	114426241	G	A	RBMXL3	c.2237G>A	NM_001145346.1	NP_001138818.1:p.(Arg746His)	NC_000023.10:g.114426241G>A	(Likely) benign	1 lab	aaeb778508
16:2127595 TSC2 A>C	16	2127595	2127595	A	C	TSC2	c.2838-4A>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2127595A>C	(Likely) benign	1 lab	aaebefb47d
18:6982546 LAMA1 C>T	18	6982546	6982546	C	T	LAMA1	c.5840G>A	NM_005559.3	NP_005550.2:p.(Arg1947His)	NC_000018.9:g.6982546C>T	(Likely) benign	1 lab	aaec0269d1
6:137519582 IFNGR1 T>C	6	137519582	137519582	T	C	IFNGR1	c.1056A>G	NM_000416.2	NP_000407.1:p.(Ile352Met)	NC_000006.11:g.137519582T>C	(Likely) benign	1 lab	aaec317e98
2:179642452 TTN C>A	2	179642452	179642452	C	A	TTN	c.4459G>T	NM_001267550.1	NP_001254479.1:p.(Glu1487Ter)	NC_000002.11:g.179642452C>A	(Likely) pathogenic	1 lab	aaec555e83
X:63488439 MTMR8 G>C	X	63488439	63488439	G	C	MTMR8	c.2093C>G	NM_017677.3	NP_060147.2:p.(Ala698Gly)	NC_000023.10:g.63488439G>C	(Likely) benign	1 lab	aaec8da22b
7:87080951 ABCB4 G>A	7	87080951	87080951	G	A	ABCB4	c.696C>T	NM_018849.2	NP_061337.1:p.(Ala232=)	NC_000007.13:g.87080951G>A	(Likely) benign	1 lab	aaed977d1a
16:72055186 DHODH C>T	16	72055186	72055186	C	T	DHODH	c.681C>T	NM_001361.4	NP_001352.2:p.(Ala227=)	NC_000016.9:g.72055186C>T	(Likely) benign	1 lab	aaedeefc74
19:7621399 PNPLA6 A>G	19	7621399	7621399	A	G	PNPLA6	c.3184A>G	NM_001166111.1	NP_001159583.1:p.(Thr1062Ala)	NC_000019.9:g.7621399A>G	VUS	1 lab	aaeef91181
11:47364282 MYBPC3 C>T	11	47364282	47364282	C	T	MYBPC3	c.1471G>A	NM_000256.3	NP_000247.2:p.(Val491Met)	NC_000011.9:g.47364282C>T	VUS	1 lab	aaef9b9260
9:140850261 CACNA1B G>A	9	140850261	140850261	G	A	CACNA1B	c.1182G>A	NM_000718.3	NP_000709.1:p.(Lys394=)	NC_000009.11:g.140850261G>A	(Likely) benign	1 lab	aaf0a664a0
X:38013832 SRPX G>A	X	38013832	38013832	G	A	SRPX	c.1094C>T	NM_006307.4	NP_006298.1:p.(Ala365Val)	NC_000023.10:g.38013832G>A	VUS	1 lab	aaf0faff57
22:32240994 DEPDC5 G>T	22	32240994	32240994	G	T	DEPDC5	c.2802-10G>T	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32240994G>T	(Likely) benign	1 lab	aaf1f5bb5f
18:7906529 PTPRM A>G	18	7906529	7906529	A	G	PTPRM	c.495A>G	NM_001105244.1	NP_001098714.1:p.(Gly165=)	NC_000018.9:g.7906529A>G	(Likely) benign	1 lab	aaf3b29216
17:8700774 MFSD6L C>T	17	8700774	8700774	C	T	MFSD6L	c.1665G>A	NM_152599.3	NP_689812.3:p.(Lys555=)	NC_000017.10:g.8700774C>T	(Likely) benign	1 lab	aaf3d65baf
6:39883846 MOCS1 C>A	6	39883846	39883846	C	A	MOCS1	c.549G>T	NM_005943.5	NP_005934.2:p.(Val183=)	NC_000006.11:g.39883846C>A	(Likely) benign	1 lab	aaf42359f1
1:47882514 FOXE3 C>T	1	47882514	47882514	C	T	FOXE3	c.527C>T	NM_012186.2	NP_036318.1:p.(Ala176Val)	NC_000001.10:g.47882514C>T	(Likely) benign	1 lab	aaf465f254
16:15931818 MYH11 C>T	16	15931818	15931818	C	T	MYH11	c.292G>A	NM_001040113.1	NP_001035202.1:p.(Glu98Lys)	NC_000016.9:g.15931818C>T	VUS	1 lab	aaf49ecc6b
12:26807016 ITPR2 C>A	12	26807016	26807016	C	A	ITPR2	c.2633G>T	NM_002223.3	NP_002214.2:p.(Ser878Ile)	NC_000012.11:g.26807016C>A	VUS	1 lab	aaf97643b2
X:140985125 MAGEC3 C>T	X	140985125	140985125	C	T	MAGEC3	c.1581C>T	NM_138702.1	NP_619647.1:p.(Asp527=)	NC_000023.10:g.140985125C>T	(Likely) benign	1 lab	aaf98315e1
3:13360604 NUP210 G>A	3	13360604	13360604	G	A	NUP210	c.5531C>T	NM_024923.4	NP_079199.2:p.(Thr1844Met)	NC_000003.11:g.13360604G>A	(Likely) benign	1 lab	aafd23ee96
12:133196320 P2RX2 AG>A	12	133196320	133196323	AG	A	P2RX2	c.368del	NM_170682.4	NP_733782.1:p.(Gly123GlufsTer7)	NC_000012.11:g.133196323del	VUS	1 lab	ab008b22bc
1:6648362 ZBTB48 C>G	1	6648362	6648362	C	G	ZBTB48	c.1541C>G	NM_005341.4	NP_005332.1:p.(Thr514Ser)	NC_000001.10:g.6648362C>G	VUS	1 lab	ab011fd7b6
6:152477163 SYNE1 G>A	6	152477163	152477163	G	A	SYNE1	c.23860C>T	NM_182961.3	NP_892006.3:p.(Leu7954=)	NC_000006.11:g.152477163G>A	(Likely) benign	1 lab	ab033b3601
1:183881318 RGL1 C>T	1	183881318	183881318	C	T	RGL1	c.1770C>T	NM_015149.4	NP_055964.3:p.(Ser590=)	NC_000001.10:g.183881318C>T	(Likely) benign	1 lab	ab03bc0724
14:24567597 PCK2 GTAACCAGGGCAGGGGCACAGTGGCAAGGGCACGGAAGATGTGAACAGGTTTGGAACCCTTCATCCAGGGGATGCCTTCCTCCAC>CTGTGGATGAG	14	24567597	24567681	GTAACCAGGGCAGGGGCACAGTGGCAAGGGCACGGAAGATGTGAACAGGTTTGGAACCCTTCATCCAGGGGATGCCTTCCTCCAC	CTGTGGATGAG	PCK2	c.58_59insCTGTGGATGAGAG	NM_001308054.1	NP_001294983.1:p.(Gly20AlafsTer31)	NC_000014.8:g.24567597_24567681delinsCTGTGGATGAG	(Likely) pathogenic	1 lab	ab0436a1db
4:126240464 FAT4 C>A	4	126240464	126240464	C	A	FAT4	c.2898C>A	NM_001291303.1	NP_001278232.1:p.(Ile966=)	NC_000004.11:g.126240464C>A	(Likely) benign	1 lab	ab06536060
X:118975082 UPF3B C>T	X	118975082	118975082	C	T	UPF3B	c.764G>A	NM_080632.2	NP_542199.1:p.(Arg255Lys)	NC_000023.10:g.118975082C>T	(Likely) benign	1 lab	ab0b6ca09e
X:38533558 TSPAN7 T>C	X	38533558	38533558	T	C	TSPAN7	c.429T>C	NM_004615.3	NP_004606.2:p.(His143=)	NC_000023.10:g.38533558T>C	(Likely) benign	1 lab	ab0d9c6ea8
X:65486296 HEPH G>T	X	65486296	65486296	G	T	HEPH	c.3421G>T	NM_138737.4	NP_620074.3:p.(Asp1141Tyr)	NC_000023.10:g.65486296G>T	(Likely) benign	1 lab	ab0dc773fb
X:67941512 STARD8 G>A	X	67941512	67941512	G	A	STARD8	c.2383G>A	NM_001142503.2	NP_001135975.1:p.(Ala795Thr)	NC_000023.10:g.67941512G>A	VUS	1 lab	ab0f409f5e
1:45484565 ZSWIM5 T>C	1	45484565	45484565	T	C	ZSWIM5	c.3119A>G	NM_020883.2	NP_065934.1:p.(Asn1040Ser)	NC_000001.10:g.45484565T>C	VUS	1 lab	ab118a865b
3:93768347 ARL13B A>C	3	93768347	93768347	A	C	ARL13B	c.1122A>C	NM_001174150.1	NP_001167621.1:p.(Pro374=)	NC_000003.11:g.93768347A>C	(Likely) benign	1 lab	ab1198ee91
17:7909916 GUCY2D A>G	17	7909916	7909916	A	G	GUCY2D	c.1262A>G	NM_000180.3	NP_000171.1:p.(Asp421Gly)	NC_000017.10:g.7909916A>G	VUS	1 lab	ab2e0c7135
1:248059028 OR2W3 TGGTGTCCC>T	1	248059028	248059038	TGGTGTCCC	T	OR2W3	c.143_150del	NM_001001957.2	NP_001001957.2:p.(Val48AlafsTer36)	NC_000001.10:g.248059031_248059038del	(Likely) pathogenic	1 lab	ab11f1c993
3:100962860 IMPG2 G>T	3	100962860	100962860	G	T	IMPG2	c.2315C>A	NM_016247.3	NP_057331.2:p.(Thr772Asn)	NC_000003.11:g.100962860G>T	VUS	1 lab	ab121c38fc
6:131197870 EPB41L2 T>G	6	131197870	131197870	T	G	EPB41L2	c.2089A>C	NM_001350299.1	NP_001337228.1:p.(Lys697Gln)	NC_000006.11:g.131197870T>G	VUS	1 lab	ab12d458fb
2:238287612 COL6A3 C>T	2	238287612	238287612	C	T	COL6A3	c.2164G>A	NM_004369.3	NP_004360.2:p.(Ala722Thr)	NC_000002.11:g.238287612C>T	VUS	1 lab	ab13237e38
14:23243680 SLC7A7 T>G	14	23243680	23243680	T	G	SLC7A7	c.1128A>C	NM_001126106.2	NP_001119578.1:p.(Glu376Asp)	NC_000014.8:g.23243680T>G	VUS	1 lab	ab13251419
1:91404020 ZNF644 G>A	1	91404020	91404020	G	A	ZNF644	c.2891C>T	NM_201269.2	NP_958357.1:p.(Ser964Leu)	NC_000001.10:g.91404020G>A	VUS	1 lab	ab13d3d708
17:71192766 COG1 C>T	17	71192766	71192766	C	T	COG1	c.436C>T	NM_018714.2	NP_061184.1:p.(Leu146Phe)	NC_000017.10:g.71192766C>T	VUS	1 lab	ab1467147e
17:42992603 GFAP G>A	17	42992603	42992603	G	A	GFAP	c.252C>T	NM_002055.4	NP_002046.1:p.(Ile84=)	NC_000017.10:g.42992603G>A	(Likely) benign	1 lab	ab15a495a0
5:140070441 HARS1 T>G	5	140070441	140070441	T	G	HARS1	c.179A>C	NM_002109.6	NP_002100.2:p.(Lys60Thr)	NC_000005.9:g.140070441T>G	VUS	1 lab	ab15b30713
16:88909462 GALNS C>T	16	88909462	88909462	C	T	GALNS	c.114G>A	NM_001323544.1	NP_001310473.1:p.(Ser38=)	NC_000016.9:g.88909462C>T	(Likely) benign	1 lab	ab17fd77d9
11:108188249 ATM G>A	11	108188249	108188249	G	A	ATM	c.6347+1G>A	NM_001351834.1	NP_001338763.1:p.?	NC_000011.9:g.108188249G>A	(Likely) pathogenic	1 lab	ab19b8a8f5
14:64636978 SYNE2 C>T	14	64636978	64636978	C	T	SYNE2	c.17033C>T	NM_182914.2	NP_878918.2:p.(Thr5678Met)	NC_000014.8:g.64636978C>T	VUS	1 lab	ab1fd4c18f
X:55515281 USP51 A>G	X	55515281	55515281	A	G	USP51	c.92T>C	NM_201286.3	NP_958443.1:p.(Val31Ala)	NC_000023.10:g.55515281A>G	(Likely) benign	1 lab	ab25738501
17:44116532 KANSL1 TAA>T	17	44116532	44116534	TAA	T	KANSL1	c.2251_2252del	NM_015443.4	NP_056258.1:p.(Leu751ArgfsTer29)	NC_000017.10:g.44116533_44116534del	(Likely) pathogenic	1 lab	ab2864b6de
2:136566585 LCT TTCTCA>T	2	136566585	136566592	TTCTCA	T	LCT	c.3327_3331del	NM_002299.4	NP_002290.2:p.(Asp1109GlufsTer34)	NC_000002.11:g.136566588_136566592del	(Likely) pathogenic	1 lab	ab28be7bf4
3:47036641 NBEAL2 G>A	3	47036641	47036641	G	A	NBEAL2	c.1416G>A	NM_015175.2	NP_055990.1:p.(Ala472=)	NC_000003.11:g.47036641G>A	(Likely) benign	1 lab	ab294b3805
X:18936835 PHKA2 A>T	X	18936835	18936835	A	T	PHKA2	c.2101T>A	NM_000292.2	NP_000283.1:p.(Ser701Thr)	NC_000023.10:g.18936835A>T	VUS	1 lab	ab29688340
1:39835746 MACF1 G>A	1	39835746	39835746	G	A	MACF1	c.6797G>A	NM_012090.5	NP_036222.3:p.(Arg2266Gln)	NC_000001.10:g.39835746G>A	(Likely) benign	1 lab	ab2a4158b9
15:51242303 AP4E1 T>C	15	51242303	51242303	T	C	AP4E1	c.1485T>C	NM_007347.4	NP_031373.2:p.(Tyr495=)	NC_000015.9:g.51242303T>C	(Likely) benign	1 lab	ab2d6416f5
9:77376952 TRPM6 A>T	9	77376952	77376952	A	T	TRPM6	c.4635T>A	NM_017662.4	NP_060132.3:p.(His1545Gln)	NC_000009.11:g.77376952A>T	(Likely) benign	1 lab	ab2fd02241
14:29237715 FOXG1 C>G	14	29237715	29237715	C	G	FOXG1	c.1230C>G	NM_005249.4	NP_005240.3:p.(Leu410=)	NC_000014.8:g.29237715C>G	(Likely) benign	1 lab	ab319bd596
1:97658696 DPYD C>T	1	97658696	97658696	C	T	DPYD	c.2551G>A	NM_000110.3	NP_000101.2:p.(Gly851Arg)	NC_000001.10:g.97658696C>T	VUS	1 lab	ab34a53a9d
10:124800121 ACADSB C>T	10	124800121	124800121	C	T	ACADSB	c.443C>T	NM_001609.3	NP_001600.1:p.(Thr148Ile)	NC_000010.10:g.124800121C>T	VUS	1 lab	ab359b40d9
X:105277500 SERPINA7 C>T	X	105277500	105277500	C	T	SERPINA7	c.1239G>A	NM_000354.5	NP_000345.2:p.(Thr413=)	NC_000023.10:g.105277500C>T	(Likely) benign	1 lab	ab35daf5d8
4:88535818 DSPP T>TGACAGC	4	88535818	88535819	T	TGACAGC	DSPP	c.2004_2005insGACAGC	NM_014208.3	NP_055023.2:p.(Asp667_Ser668dup)	NC_000004.11:g.88535818_88535819insGACAGC	(Likely) benign	1 lab	ab35f9ead0
5:1879887 IRX4 G>A	5	1879887	1879887	G	A	IRX4	c.545C>T	NM_001278635.1	NP_001265564.1:p.(Thr182Met)	NC_000005.9:g.1879887G>A	VUS	1 lab	ab363ee69f
16:15790607 NDE1 C>T	16	15790607	15790607	C	T	NDE1	c.837C>T	NM_001143979.1	NP_001137451.1:p.(Tyr279=)	NC_000016.9:g.15790607C>T	(Likely) benign	1 lab	ab3d06af13
21:46876658 COL18A1 C>T	21	46876658	46876658	C	T	COL18A1	c.1214C>T	NM_130444.3	NP_569711.2:p.(Pro405Leu)	NC_000021.8:g.46876658C>T	(Likely) benign	1 lab	ab3d8b172e
6:42152586 GUCA1B G>A	6	42152586	42152586	G	A	GUCA1B	c.570C>T	NM_002098.5	NP_002089.4:p.(Leu190=)	NC_000006.11:g.42152586G>A	(Likely) benign	1 lab	ab3df1ed1f
11:62299542 AHNAK G>T	11	62299542	62299542	G	T	AHNAK	c.2347C>A	NM_001620.2	NP_001611.1:p.(Pro783Thr)	NC_000011.9:g.62299542G>T	(Likely) benign	1 lab	ab3e7a20bd
1:152276712 FLG T>C	1	152276712	152276712	T	C	FLG	c.10650A>G	NM_002016.1	NP_002007.1:p.(Glu3550=)	NC_000001.10:g.152276712T>C	(Likely) benign	1 lab	ab3faaa698
X:84537206 POF1B T>C	X	84537206	84537206	T	C	POF1B	c.1764+3A>G	NM_024921.3	NP_079197.3:p.?	NC_000023.10:g.84537206T>C	(Likely) benign	1 lab	ab4184f36a
2:179515540 TTN G>C	2	179515540	179515540	G	C	TTN	c.39647C>G	NM_001267550.1	NP_001254479.1:p.(Pro13216Arg)	NC_000002.11:g.179515540G>C	(Likely) benign	1 lab	ab418ad26c
2:179629032 TTN A>G	2	179629032	179629032	A	G	TTN	c.9989-3T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179629032A>G	(Likely) benign	1 lab	ab41b133d1
3:49690916 BSN C>T	3	49690916	49690916	C	T	BSN	c.3927C>T	NM_003458.3	NP_003449.2:p.(Thr1309=)	NC_000003.11:g.49690916C>T	VUS	1 lab	ab472e2f7f
20:20123533 CFAP61 C>CA	20	20123533	20123539	C	CA	CFAP61	c.898dup	NM_015585.4	NP_056400.3:p.(Ile300AsnfsTer40)	NC_000020.10:g.20123539dup	VUS	1 lab	ab47360017
22:38468596 PICK1 G>C	22	38468596	38468596	G	C	PICK1	c.669G>C	NM_012407.4	NP_036539.1:p.(Arg223=)	NC_000022.10:g.38468596G>C	(Likely) benign	1 lab	ab49871397
11:66473243 SPTBN2 G>A	11	66473243	66473243	G	A	SPTBN2	c.1719C>T	NM_006946.3	NP_008877.1:p.(His573=)	NC_000011.9:g.66473243G>A	(Likely) benign	1 lab	ab4ad4d14f
12:40619363 LRRK2 A>G	12	40619363	40619363	A	G	LRRK2	c.158A>G	NM_198578.3	NP_940980.3:p.(Lys53Arg)	NC_000012.11:g.40619363A>G	(Likely) benign	1 lab	ab4e61edc4
19:45312432 BCAM G>A	19	45312432	45312432	G	A	BCAM	c.51G>A	NM_001013257.2	NP_001013275.1:p.(Leu17=)	NC_000019.9:g.45312432G>A	(Likely) benign	1 lab	ab4ffc66eb
9:134385727 POMT1 C>T	9	134385727	134385727	C	T	POMT1	c.684C>T	NM_001353198.1	NP_001340127.1:p.(Tyr228=)	NC_000009.11:g.134385727C>T	(Likely) benign	1 lab	ab501b68b5
10:31809758 ZEB1 G>A	10	31809758	31809758	G	A	ZEB1	c.841G>A	NM_001323638.1	NP_001310567.1:p.(Ala281Thr)	NC_000010.10:g.31809758G>A	VUS	1 lab	ab505d192a
7:21893985 DNAH11 A>G	7	21893985	21893985	A	G	DNAH11				NC_000007.13:g.21893985A>G	VUS	1 lab	ab51030c9a
X:48762432 SLC35A2 AC>A	X	48762432	48762434	AC	A	SLC35A2	c.753del	NM_005660.3	NP_005651.1:p.(Trp251CysfsTer98)	NC_000023.10:g.48762434del	(Likely) pathogenic	1 lab	ab519629a0
8:100791265 VPS13B C>T	8	100791265	100791265	C	T	VPS13B	c.7854+6C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100791265C>T	(Likely) benign	1 lab	ab519c5f7a
11:2189158 TH G>T	11	2189158	2189158	G	T	TH	c.675C>A	NM_199292.2	NP_954986.2:p.(Phe225Leu)	NC_000011.9:g.2189158G>T	VUS	1 lab	ab52480c72
11:57367347 SERPING1 C>T	11	57367347	57367347	C	T	SERPING1	c.52-5C>T	NM_000062.2	NP_000053.2:p.?	NC_000011.9:g.57367347C>T	(Likely) benign	1 lab	ab5256c3e2
16:1642265 IFT140 G>A	16	1642265	1642265	G	A	IFT140	c.546C>T	NM_014714.4	NP_055529.2:p.(Asp182=)	NC_000016.9:g.1642265G>A	(Likely) benign	1 lab	3e2cc31f44
2:130912047 SMPD4 G>A	2	130912047	130912047	G	A	SMPD4	c.1579C>T	NM_017951.4	NP_060421.2:p.(Leu527=)	NC_000002.11:g.130912047G>A	(Likely) benign	1 lab	ab5535fb10
1:197097751 ASPM A>G	1	197097751	197097751	A	G	ASPM	c.2805T>C	NM_018136.4	NP_060606.3:p.(Ser935=)	NC_000001.10:g.197097751A>G	(Likely) benign	1 lab	ab5546ab21
6:152542112 SYNE1 T>C	6	152542112	152542112	T	C	SYNE1	c.21726A>G	NM_182961.3	NP_892006.3:p.(Gln7242=)	NC_000006.11:g.152542112T>C	(Likely) benign	1 lab	ab58e579d1
6:32803090 TAP2 G>T	6	32803090	32803090	G	T	TAP2	c.786C>A	NM_001290043.1	NP_001276972.1:p.(Asn262Lys)	NC_000006.11:g.32803090G>T	(Likely) benign	1 lab	ab591b3211
20:42744398 JPH2 C>T	20	42744398	42744398	C	T	JPH2	c.1917G>A	NM_020433.4	NP_065166.2:p.(Lys639=)	NC_000020.10:g.42744398C>T	(Likely) benign	1 lab	ab5e7356c5
16:2124481 TSC2 T>TG	16	2124481	2124485	T	TG	TSC2	c.2545+95dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2124485dup	(Likely) benign	1 lab	ab60913df8
15:43038308 TTBK2 T>C	15	43038308	43038308	T	C	TTBK2	c.3420A>G	NM_173500.3	NP_775771.3:p.(Pro1140=)	NC_000015.9:g.43038308T>C	(Likely) benign	1 lab	ab613456be
18:67753929 RTTN G>T	18	67753929	67753929	G	T	RTTN	c.4303-9C>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67753929G>T	(Likely) benign	1 lab	ab61c77605
7:4820845 AP5Z1 G>GCTGTAAACTGTAACTGTA	7	4820845	4820846	G	GCTGTAAACTGTAACTGTA	AP5Z1	c.81_82insCTGTAAACTGTAACTGTA	NM_014855.3	NP_055670.1:p.(Arg27_Ile28insLeuTer)	NC_000007.13:g.4820845_4820846insCTGTAAACTGTAACTGTA	VUS	1 lab	ab63b50c55
17:29684289 NF1 T>A	17	29684289	29684289	T	A	NF1	c.7809T>A	NM_000267.3	NP_000258.1:p.(Ala2603=)	NC_000017.10:g.29684289T>A	(Likely) benign	1 lab	ab641c1b36
5:61668355 KIF2A C>T	5	61668355	61668355	C	T	KIF2A	c.1737C>T	NM_001098511.2	NP_001091981.1:p.(Asp579=)	NC_000005.9:g.61668355C>T	(Likely) benign	1 lab	ab64bdeaad
8:145009206 PLEC C>T	8	145009206	145009206	C	T	PLEC	c.1209G>A	NM_201380.3	NP_958782.1:p.(Pro403=)	NC_000008.10:g.145009206C>T	(Likely) benign	1 lab	ab65011cbd
X:147744112 AFF2 C>T	X	147744112	147744112	C	T	AFF2	c.864C>T	NM_002025.3	NP_002016.2:p.(Tyr288=)	NC_000023.10:g.147744112C>T	(Likely) benign	1 lab	ab65682d75
X:9716640 GPR143 G>A	X	9716640	9716640	G	A	GPR143	c.522C>T	NM_000273.2	NP_000264.2:p.(Ala174=)	NC_000023.10:g.9716640G>A	(Likely) benign	1 lab	ab664257e9
16:2135267 TSC2 C>T	16	2135267	2135267	C	T	TSC2	c.4606C>T	NM_000548.3	NP_000539.2:p.(Gln1536Ter)	NC_000016.9:g.2135267C>T	(Likely) pathogenic	1 lab	ab6680d9e9
1:160282898 COPA G>C	1	160282898	160282898	G	C	COPA	c.902C>G	NM_001098398.2	NP_001091868.1:p.(Pro301Arg)	NC_000001.10:g.160282898G>C	VUS	1 lab	ab680a3654
14:102510203 DYNC1H1 C>A	14	102510203	102510203	C	A	DYNC1H1	c.12514-9C>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102510203C>A	(Likely) benign	1 lab	ab68cce2da
X:38147268 RPGR C>T	X	38147268	38147268	C	T	RPGR	c.1599G>A	NM_001034853.1	NP_001030025.1:p.(Thr533=)	NC_000023.10:g.38147268C>T	(Likely) benign	1 lab	ab68dcd727
19:14017278 CC2D1A G>A	19	14017278	14017278	G	A	CC2D1A	c.24G>A	NM_017721.4	NP_060191.3:p.(Pro8=)	NC_000019.9:g.14017278G>A	(Likely) benign	1 lab	ab69a1f42c
13:78493733 EDNRB A>T	13	78493733	78493733	A	T	EDNRB	c.18T>A	NM_001201397.1	NP_001188326.1:p.(Cys6Ter)	NC_000013.10:g.78493733A>T	VUS	1 lab	ab6a191ea8
3:16254165 GALNT15 C>A	3	16254165	16254165	C	A	GALNT15	c.1287C>A	NM_054110.5	NP_473451.3:p.(Asp429Glu)	NC_000003.11:g.16254165C>A	(Likely) benign	1 lab	ab6ab7452f
12:72956701 TRHDE T>C	12	72956701	72956701	T	C	TRHDE	c.1788T>C	NM_013381.2	NP_037513.1:p.(Gly596=)	NC_000012.11:g.72956701T>C	(Likely) benign	1 lab	ab6d3da545
1:120263815 PHGDH G>A	1	120263815	120263815	G	A	PHGDH	c.161G>A	NM_006623.3	NP_006614.2:p.(Arg54His)	NC_000001.10:g.120263815G>A	VUS	1 lab	ab6d696ea1
12:111926414 ATXN2 G>T	12	111926414	111926414	G	T	ATXN2	c.2586C>A	NM_002973.3	NP_002964.3:p.(Pro862=)	NC_000012.11:g.111926414G>T	(Likely) benign	1 lab	ab6e0cbe64
X:101858249 ARMCX5 C>A	X	101858249	101858249	C	A	ARMCX5	c.1180C>A	NM_001168479.1	NP_001161951.1:p.(His394Asn)	NC_000023.10:g.101858249C>A	(Likely) benign	1 lab	ab7059430c
1:43869435 SZT2 C>T	1	43869435	43869435	C	T	SZT2	c.317C>T	NM_015284.3	NP_056099.3:p.(Thr106Ile)	NC_000001.10:g.43869435C>T	VUS	1 lab	ab70db6b6c
20:62679998 SOX18 C>G	20	62679998	62679998	C	G	SOX18	c.676G>C	NM_018419.2	NP_060889.1:p.(Gly226Arg)	NC_000020.10:g.62679998C>G	VUS	1 lab	ab71a05a0b
11:64975703 CAPN1 C>T	11	64975703	64975703	C	T	CAPN1	c.1699C>T	NM_001198868.1	NP_001185797.1:p.(Arg567Trp)	NC_000011.9:g.64975703C>T	VUS	1 lab	ab723f2961
8:1719640 CLN8 C>G	8	1719640	1719640	C	G	CLN8	c.420C>G	NM_018941.3	NP_061764.2:p.(Leu140=)	NC_000008.10:g.1719640C>G	(Likely) benign	1 lab	ab736eff66
22:38137041 TRIOBP T>G	22	38137041	38137041	T	G	TRIOBP	c.5322+2T>G	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38137041T>G	(Likely) pathogenic	1 lab	ab741b1c04
1:11009716 CIROZ C>G	1	11009716	11009716	C	G	CIROZ	c.1255G>C	NM_001170754.1	NP_001164225.1:p.(Asp419His)	NC_000001.10:g.11009716C>G	(Likely) benign	1 lab	ab7818a211
13:110829053 COL4A1 C>T	13	110829053	110829053	C	T	COL4A1	c.2888G>A	NM_001845.5	NP_001836.3:p.(Gly963Asp)	NC_000013.10:g.110829053C>T	VUS	1 lab	ab7855b791
3:186954338 MASP1 G>A	3	186954338	186954338	G	A	MASP1	c.1321C>T	NM_139125.3	NP_624302.1:p.(Arg441Cys)	NC_000003.11:g.186954338G>A	VUS	1 lab	ab79a6cce5
17:29560230 NF1 G>A	17	29560230	29560230	G	A	NF1	c.3707G>A	NM_000267.3	NP_000258.1:p.(Trp1236Ter)	NC_000017.10:g.29560230G>A	(Likely) pathogenic	1 lab	ab7bf4a393
19:51857615 ETFB G>A	19	51857615	51857615	G	A	ETFB	c.278C>T	NM_001014763.1	NP_001014763.1:p.(Pro93Leu)	NC_000019.9:g.51857615G>A	VUS	1 lab	ab7c15d705
9:98231210 PTCH1 G>A	9	98231210	98231210	G	A	PTCH1	c.1875C>T	NM_001083602.1	NP_001077071.1:p.(Thr625=)	NC_000009.11:g.98231210G>A	(Likely) benign	1 lab	ab7f0dfe1c
5:76624825 PDE8B C>T	5	76624825	76624825	C	T	PDE8B	c.593C>T	NM_003719.3	NP_003710.1:p.(Ser198Leu)	NC_000005.9:g.76624825C>T	(Likely) benign	1 lab	ab807e8b32
18:14106016 ZNF519 G>T	18	14106016	14106016	G	T	ZNF519	c.523C>A	NM_145287.3	NP_660330.2:p.(His175Asn)	NC_000018.9:g.14106016G>T	(Likely) benign	1 lab	ab8099f21b
1:16459832 EPHA2 C>T	1	16459832	16459832	C	T	EPHA2	c.1896G>A	NM_004431.4	NP_004422.2:p.(Leu632=)	NC_000001.10:g.16459832C>T	(Likely) benign	1 lab	ab82e33007
8:61139442 CA8 A>G	8	61139442	61139442	A	G	CA8	c.566T>C	NM_004056.5	NP_004047.3:p.(Ile189Thr)	NC_000008.10:g.61139442A>G	VUS	1 lab	ab83633a02
6:170162514 ERMARD C>T	6	170162514	170162514	C	T	ERMARD	c.858-11C>T	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170162514C>T	(Likely) benign	1 lab	ab83b706a8
5:94834171 SKIC3 CTT>C	5	94834171	94834174	CTT	C	SKIC3	c.3464_3465del	NM_014639.4	NP_055454.1:p.(Lys1155ArgfsTer3)	NC_000005.9:g.94834173_94834174del	(Likely) pathogenic	1 lab	ab840664a9
13:25480085 CPAP A>C	13	25480085	25480085	A	C	CPAP	c.2091T>G	NM_018451.4	NP_060921.3:p.(Val697=)	NC_000013.10:g.25480085A>C	VUS	1 lab	ab852d46ac
7:121943744 FEZF1 G>T	7	121943744	121943744	G	T	FEZF1	c.748C>A	NM_001024613.3	NP_001019784.2:p.(Arg250=)	NC_000007.13:g.121943744G>T	(Likely) benign	1 lab	ab85809a6b
X:110653531 DCX G>T	X	110653531	110653531	G	T	DCX	c.339C>A	NM_000555.3	NP_000546.2:p.(Ser113Arg)	NC_000023.10:g.110653531G>T	VUS	1 lab	ab887343d2
11:47369965 MYBPC3 G>A	11	47369965	47369965	G	A	MYBPC3	c.772+10C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369965G>A	(Likely) benign	1 lab	ab8a7a6d0b
14:102918744 TECPR2 G>A	14	102918744	102918744	G	A	TECPR2	c.3420G>A	NM_014844.4	NP_055659.2:p.(Trp1140Ter)	NC_000014.8:g.102918744G>A	VUS	1 lab	ab8b0cb9cf
15:72103839 NR2E3 C>A	15	72103839	72103839	C	A	NR2E3	c.135C>A	NM_016346.3	NP_057430.1:p.(Leu45=)	NC_000015.9:g.72103839C>A	(Likely) benign	1 lab	ab8bbcffc2
4:56236089 SRD5A3 A>G	4	56236089	56236089	A	G	SRD5A3	c.788A>G	NM_024592.4	NP_078868.1:p.(Tyr263Cys)	NC_000004.11:g.56236089A>G	VUS	1 lab	ab8e4dea50
22:30032865 NF2 G>C	22	30032865	30032865	G	C	NF2	c.240G>C	NM_000268.3	NP_000259.1:p.(Lys80Asn)	NC_000022.10:g.30032865G>C	VUS	1 lab	ab912cdadc
3:179470081 USP13 G>A	3	179470081	179470081	G	A	USP13	c.1718G>A	NM_003940.3	NP_003931.2:p.(Arg573His)	NC_000003.11:g.179470081G>A	VUS	1 lab	ab92b47f5f
6:86251731 SNX14 A>T	6	86251731	86251731	A	T	SNX14	c.1483T>A	NM_001350532.1	NP_001337461.1:p.(Ser495Thr)	NC_000006.11:g.86251731A>T	(Likely) benign	1 lab	ab92c87dd3
3:15755137 ANKRD28 C>T	3	15755137	15755137	C	T	ANKRD28	c.535G>A	NM_001195098.1	NP_001182027.1:p.(Asp179Asn)	NC_000003.11:g.15755137C>T	VUS	1 lab	ab9385a361
5:149754609 TCOF1 G>A	5	149754609	149754609	G	A	TCOF1	c.1371G>A	NM_001135243.1	NP_001128715.1:p.(Arg457=)	NC_000005.9:g.149754609G>A	(Likely) benign	1 lab	ab94818ef4
17:18024649 MYO15A G>A	17	18024649	18024649	G	A	MYO15A	c.2535G>A	NM_016239.3	NP_057323.3:p.(Arg845=)	NC_000017.10:g.18024649G>A	(Likely) benign	1 lab	ab96441634
19:55146606 LILRB1 C>T	19	55146606	55146606	C	T	LILRB1	c.1535C>T	NM_006669.6	NP_006660.4:p.(Pro512Leu)	NC_000019.9:g.55146606C>T	(Likely) benign	1 lab	ab9894a4d9
16:2158595 PKD1 G>A	16	2158595	2158595	G	A	PKD1	c.6573C>T	NM_001009944.2	NP_001009944.2:p.(Arg2191=)	NC_000016.9:g.2158595G>A	(Likely) benign	1 lab	ab992643e9
4:77089607 SCARB2 G>A	4	77089607	77089607	G	A	SCARB2	c.1136C>T	NM_005506.3	NP_005497.1:p.(Ala379Val)	NC_000004.11:g.77089607G>A	VUS	1 lab	ab9947a268
8:95854687 INTS8 A>C	8	95854687	95854687	A	C	INTS8	c.1231A>C	NM_017864.3	NP_060334.2:p.(Asn411His)	NC_000008.10:g.95854687A>C	VUS	1 lab	ab9a988f26
16:3658501 SLX4 T>C	16	3658501	3658501	T	C	SLX4	c.465A>G	NM_032444.2	NP_115820.2:p.(Glu155=)	NC_000016.9:g.3658501T>C	(Likely) benign	1 lab	ab9b6d8f3d
1:207513916 CD55 T>A	1	207513916	207513916	T	A	CD55	c.1262T>A	NM_001300902.1	NP_001287831.1:p.(Leu421Gln)	NC_000001.10:g.207513916T>A	(Likely) benign	1 lab	ab9bd7b5d3
11:66618369 PC G>A	11	66618369	66618369	G	A	PC	c.2249C>T	NM_001040716.1	NP_001035806.1:p.(Thr750Met)	NC_000011.9:g.66618369G>A	(Likely) benign	1 lab	ab9ed42fc9
6:32816894 TAP1 A>G	6	32816894	32816894	A	G	TAP1	c.1430T>C	NM_000593.5	NP_000584.2:p.(Ile477Thr)	NC_000006.11:g.32816894A>G	VUS	1 lab	ab9fccefb6
19:17889532 FCHO1 C>G	19	17889532	17889532	C	G	FCHO1	c.1466C>G	NM_001161357.1	NP_001154829.1:p.(Pro489Arg)	NC_000019.9:g.17889532C>G	VUS	1 lab	aba06a418f
2:32466092 NLRC4 GA>G	2	32466092	32466095	GA	G	NLRC4	c.2350+9del	NM_001199138.2	NP_001186067.1:p.?	NC_000002.11:g.32466095del	(Likely) benign	1 lab	aba1f1538a
10:96084753 PLCE1 C>T	10	96084753	96084753	C	T	PLCE1	c.6825C>T	NM_016341.3	NP_057425.3:p.(Leu2275=)	NC_000010.10:g.96084753C>T	(Likely) benign	1 lab	aba3ac26b4
1:216166479 USH2A C>T	1	216166479	216166479	C	T	USH2A	c.6688G>A	NM_206933.2	NP_996816.2:p.(Glu2230Lys)	NC_000001.10:g.216166479C>T	VUS	1 lab	aba40d4c21
3:47455755 SCAP G>T	3	47455755	47455755	G	T	SCAP	c.3509C>A	NM_012235.4	NP_036367.2:p.(Thr1170Asn)	NC_000003.11:g.47455755G>T	(Likely) benign	1 lab	aba4d06c47
19:1468804 APC2 C>T	19	1468804	1468804	C	T	APC2	c.5504C>T	NM_005883.2	NP_005874.1:p.(Pro1835Leu)	NC_000019.9:g.1468804C>T	(Likely) benign	1 lab	aba6cd3a73
22:22311807 TOP3B G>C	22	22311807	22311807	G	C	TOP3B	c.2268C>G	NM_003935.4	NP_003926.1:p.(His756Gln)	NC_000022.10:g.22311807G>C	(Likely) benign	1 lab	aba7e7e056
19:6586277 CD70 C>T	19	6586277	6586277	C	T	CD70	c.336G>A	NM_001330332.1	NP_001317261.1:p.(Leu112=)	NC_000019.9:g.6586277C>T	(Likely) benign	1 lab	aba99b5518
9:140772403 CACNA1B C>T	9	140772403	140772403	C	T	CACNA1B	c.18C>T	NM_000718.3	NP_000709.1:p.(Asp6=)	NC_000009.11:g.140772403C>T	(Likely) benign	1 lab	abaa284280
11:66472920 SPTBN2 C>A	11	66472920	66472920	C	A	SPTBN2	c.1827G>T	NM_006946.3	NP_008877.1:p.(Pro609=)	NC_000011.9:g.66472920C>A	(Likely) benign	1 lab	abaa8b6049
X:19449715 MAP3K15 G>A	X	19449715	19449715	G	A	MAP3K15	c.1007C>T	NM_001001671.3	NP_001001671.3:p.(Thr336Ile)	NC_000023.10:g.19449715G>A	(Likely) benign	1 lab	abaa92fe3f
9:13224410 MPDZ C>G	9	13224410	13224410	C	G	MPDZ	c.356G>C	NM_003829.4	NP_003820.2:p.(Cys119Ser)	NC_000009.11:g.13224410C>G	(Likely) benign	1 lab	abab7a2cd4
1:231474181 SPRTN C>A	1	231474181	231474181	C	A	SPRTN	c.52C>A	NM_001010984.3	NP_001010984.1:p.(Gln18Lys)	NC_000001.10:g.231474181C>A	(Likely) benign	1 lab	ababfbe344
8:43046716 HGSNAT C>A	8	43046716	43046716	C	A	HGSNAT	c.1228C>A	NM_152419.2	NP_689632.2:p.(Leu410Met)	NC_000008.10:g.43046716C>A	VUS	1 lab	abae4b06d1
15:81427677 CFAP161 C>T	15	81427677	81427677	C	T	CFAP161	c.136C>T	NM_173528.4	NP_775799.2:p.(Leu46=)	NC_000015.9:g.81427677C>T	(Likely) benign	1 lab	abae5424c5
7:100646739 MUC12 G>A	7	100646739	100646739	G	A	MUC12	c.12895G>A	NM_001164462.1	NP_001157934.1:p.(Ala4299Thr)	NC_000007.13:g.100646739G>A	(Likely) benign	1 lab	abaf60dd44
19:50781497 MYH14 A>T	19	50781497	50781497	A	T	MYH14	c.3983A>T	NM_001145809.1	NP_001139281.1:p.(Asp1328Val)	NC_000019.9:g.50781497A>T	VUS	1 lab	abb01b898c
1:12401888 VPS13D G>A	1	12401888	12401888	G	A	VPS13D	c.8678G>A	NM_015378.4	NP_056193.2:p.(Arg2893Lys)	NC_000001.10:g.12401888G>A	VUS	1 lab	abb057f037
19:1220628 STK11 TC>T	19	1220628	1220632	TC	T	STK11	c.650del	NM_000455.5	NP_000446.1:p.(Pro217ArgfsTer70)	NC_000019.9:g.1220632del	(Likely) pathogenic	1 lab	abb257d85b
10:55582988 PCDH15 C>T	10	55582988	55582988	C	T	PCDH15	c.4519G>A	NM_001142763.1	NP_001136235.1:p.(Gly1507Arg)	NC_000010.10:g.55582988C>T	(Likely) benign	1 lab	abb4fb7101
14:105416011 AHNAK2 G>A	14	105416011	105416011	G	A	AHNAK2	c.5777C>T	NM_138420.3	NP_612429.2:p.(Thr1926Ile)	NC_000014.8:g.105416011G>A	(Likely) benign	1 lab	abb503ad12
X:153032350 PLXNB3 C>A	X	153032350	153032350	C	A	PLXNB3	c.137C>A	NM_001163257.1	NP_001156729.1:p.(Pro46His)	NC_000023.10:g.153032350C>A	(Likely) benign	1 lab	abb7e77b7b
12:63964532 DPY19L2 G>T	12	63964532	63964532	G	T	DPY19L2	c.2000+6C>A	NM_173812.4	NP_776173.3:p.?	NC_000012.11:g.63964532G>T	(Likely) benign	1 lab	abb8c0931f
1:1724741 GNB1 GACAGGTA>G	1	1724741	1724750	GACAGGTA	G	GNB1	c.433_439del	NM_002074.5	NP_002065.1:p.(Tyr145ProfsTer42)	NC_000001.10:g.1724744_1724750del	(Likely) pathogenic	1 lab	abb8f6e19d
13:103289573 TPP2 G>C	13	103289573	103289573	G	C	TPP2	c.1820G>C	NM_003291.4	NP_003282.2:p.(Gly607Ala)	NC_000013.10:g.103289573G>C	VUS	1 lab	abb9c44c66
17:6381944 PITPNM3 C>T	17	6381944	6381944	C	T	PITPNM3	c.700G>A	NM_031220.3	NP_112497.2:p.(Ala234Thr)	NC_000017.10:g.6381944C>T	VUS	1 lab	abba077734
3:52557908 STAB1 GC>G	3	52557908	52557912	GC	G	STAB1	c.7421del	NM_015136.3	NP_055951.2:p.(Pro2474HisfsTer126)	NC_000003.11:g.52557912del	VUS	1 lab	abbb49db83
2:29416037 ALK C>G	2	29416037	29416037	C	G	ALK				NC_000002.11:g.29416037C>G	(Likely) benign	1 lab	abbcb5c111
20:34055380 CEP250 G>A	20	34055380	34055380	G	A	CEP250	c.851G>A	NM_007186.5	NP_009117.2:p.(Arg284Gln)	NC_000020.10:g.34055380G>A	VUS	1 lab	abbeed3f36
4:154624396 TLR2 T>C	4	154624396	154624396	T	C	TLR2	c.337T>C	NM_001318787.1	NP_001305716.1:p.(Ser113Pro)	NC_000004.11:g.154624396T>C	(Likely) benign	1 lab	abc162b02a
X:41383297 CASK G>GAA	X	41383297	41383311	G	GAA	CASK	c.2506-12_2506-11dup	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41383310_41383311dup	(Likely) benign	1 lab	abc203a17e
X:49114789 FOXP3 AGAG>A	X	49114789	49114796	AGAG	A	FOXP3	c.171_173del	NM_014009.4	NP_054728.2:p.(Ser60del)	NC_000023.10:g.49114794_49114796del	(Likely) benign	1 lab	abc2151e20
X:71915583 PHKA1 G>A	X	71915583	71915583	G	A	PHKA1	c.429C>T	NM_002637.3	NP_002628.2:p.(Leu143=)	NC_000023.10:g.71915583G>A	(Likely) benign	1 lab	abc57bb1eb
X:99922348 SRPX2 A>C	X	99922348	99922348	A	C	SRPX2	c.1039A>C	NM_014467.2	NP_055282.1:p.(Ile347Leu)	NC_000023.10:g.99922348A>C	(Likely) benign	1 lab	abc7624375
7:107204420 COG5 G>C	7	107204420	107204420	G	C	COG5	c.15C>G	NM_001161520.1	NP_001154992.1:p.(Gly5=)	NC_000007.13:g.107204420G>C	(Likely) benign	1 lab	abc9b6ed01
16:57693376 ADGRG1 C>T	16	57693376	57693376	C	T	ADGRG1	c.1356C>T	NM_005682.6	NP_005673.3:p.(Ala452=)	NC_000016.9:g.57693376C>T	(Likely) benign	1 lab	abcb780e76
1:6504654 ESPN T>G	1	6504654	6504654	T	G	ESPN	c.1104T>G	NM_031475.3	NP_113663.2:p.(Phe368Leu)	NC_000001.10:g.6504654T>G	(Likely) benign	1 lab	abccec18b4
3:133476698 TF A>G	3	133476698	133476698	A	G	TF	c.956A>G	NM_001063.3	NP_001054.1:p.(His319Arg)	NC_000003.11:g.133476698A>G	(Likely) benign	1 lab	abcdd067ff
X:128682529 OCRL T>TC	X	128682529	128682533	T	TC	OCRL	c.203-7dup	NM_001318784.1	NP_001305713.1:p.?	NC_000023.10:g.128682533dup	(Likely) benign	1 lab	abcf60e088
18:59774070 PIGN A>G	18	59774070	59774070	A	G	PIGN	c.1719T>C	NM_176787.4	NP_789744.1:p.(Thr573=)	NC_000018.9:g.59774070A>G	(Likely) benign	1 lab	abd090ccd3
17:29554492 NF1 T>G	17	29554492	29554492	T	G	NF1	c.2326-49T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554492T>G	(Likely) benign	1 lab	abd231dfdf
2:166243346 SCN2A A>G	2	166243346	166243346	A	G	SCN2A	c.4642A>G	NM_021007.2	NP_066287.2:p.(Met1548Val)	NC_000002.11:g.166243346A>G	(Likely) pathogenic	1 lab	abd26c6153
1:92946356 GFI1 G>A	1	92946356	92946356	G	A	GFI1	c.588C>T	NM_001127215.2	NP_001120687.1:p.(Gly196=)	NC_000001.10:g.92946356G>A	(Likely) benign	1 lab	abd35e2814
3:48621204 COL7A1 C>T	3	48621204	48621204	C	T	COL7A1	c.4288G>A	NM_000094.3	NP_000085.1:p.(Gly1430Arg)	NC_000003.11:g.48621204C>T	VUS	1 lab	abd6b8bb57
X:53575195 HUWE1 T>C	X	53575195	53575195	T	C	HUWE1	c.10075A>G	NM_031407.6	NP_113584.3:p.(Thr3359Ala)	NC_000023.10:g.53575195T>C	(Likely) benign	1 lab	abd70b4992
12:110034221 MVK C>T	12	110034221	110034221	C	T	MVK	c.1040-10C>T	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110034221C>T	(Likely) benign	1 lab	abd8df2108
1:186022964 HMCN1 A>G	1	186022964	186022964	A	G	HMCN1	c.6708A>G	NM_031935.2	NP_114141.2:p.(Pro2236=)	NC_000001.10:g.186022964A>G	(Likely) benign	1 lab	abdb429e5b
X:7243444 STS G>A	X	7243444	7243444	G	A	STS	c.1182G>A	NM_001320750.1	NP_001307679.1:p.(Val394=)	NC_000023.10:g.7243444G>A	(Likely) benign	1 lab	abdc1452db
13:52515275 ATP7B A>G	13	52515275	52515275	A	G	ATP7B	c.3498T>C	NM_000053.3	NP_000044.2:p.(Ser1166=)	NC_000013.10:g.52515275A>G	(Likely) benign	1 lab	abdd497557
22:30035101 NF2 AG>A	22	30035101	30035103	AG	A	NF2	c.265del	NM_000268.4	NP_000259.1:p.(Glu89LysfsTer34)	NC_000022.10:g.30035103del	(Likely) pathogenic	1 lab	abde0c962f
X:153775047 G6PD T>G	X	153775047	153775047	T	G	G6PD	c.39A>C	NM_000402.4	NP_000393.4:p.(Thr13=)	NC_000023.10:g.153775047T>G	(Likely) benign	1 lab	abdfe2020d
11:124749849 ROBO3 G>A	11	124749849	124749849	G	A	ROBO3	c.3958+5G>A	NM_022370.3	NP_071765.2:p.?	NC_000011.9:g.124749849G>A	(Likely) benign	1 lab	abe2ec5a2b
7:120428731 TSPAN12 A>G	7	120428731	120428731	A	G	TSPAN12	c.833T>C	NM_012338.3	NP_036470.1:p.(Leu278Pro)	NC_000007.13:g.120428731A>G	(Likely) benign	1 lab	abe38a3b3f
7:138824711 IFT56 C>T	7	138824711	138824711	C	T	IFT56	c.310C>T	NM_001321740.1	NP_001308669.1:p.(Leu104Phe)	NC_000007.13:g.138824711C>T	VUS	1 lab	abe3c78473
6:132193241 ENPP1 TGTGA>T	6	132193241	132193247	TGTGA	T	ENPP1	c.1437+3_1437+6del	NM_006208.3	NP_006199.2:p.?	NC_000006.11:g.132193244_132193247del	VUS	1 lab	abe5d33b49
7:82784660 PCLO C>T	7	82784660	82784660	C	T	PCLO	c.1297G>A	NM_033026.5	NP_149015.2:p.(Ala433Thr)	NC_000007.13:g.82784660C>T	(Likely) benign	1 lab	abe7725106
6:24651232 TDP2 T>C	6	24651232	24651232	T	C	TDP2	c.873A>G	NM_016614.2	NP_057698.2:p.(Lys291=)	NC_000006.11:g.24651232T>C	(Likely) benign	1 lab	abed267d3e
7:92147474 PEX1 C>T	7	92147474	92147474	C	T	PEX1	c.453G>A	NM_000466.2	NP_000457.1:p.(Thr151=)	NC_000007.13:g.92147474C>T	(Likely) benign	1 lab	abed3c8529
1:204418411 PIK3C2B C>T	1	204418411	204418411	C	T	PIK3C2B	c.2248G>A	NM_002646.3	NP_002637.3:p.(Gly750Ser)	NC_000001.10:g.204418411C>T	VUS	1 lab	abef050237
X:68058663 EFNB1 C>A	X	68058663	68058663	C	A	EFNB1	c.332C>A	NM_004429.4	NP_004420.1:p.(Thr111Asn)	NC_000023.10:g.68058663C>A	(Likely) pathogenic	1 lab	abef36392c
21:43802193 TMPRSS3 G>A	21	43802193	43802193	G	A	TMPRSS3	c.933C>T	NM_024022.2	NP_076927.1:p.(Ala311=)	NC_000021.8:g.43802193G>A	(Likely) benign	1 lab	abf0289ddc
2:162833350 SLC4A10 A>T	2	162833350	162833350	A	T	SLC4A10	c.3251A>T	NM_001178016.1	NP_001171487.1:p.(Asn1084Ile)	NC_000002.11:g.162833350A>T	VUS	1 lab	abf03f2f1e
16:2158988 PKD1 G>A	16	2158988	2158988	G	A	PKD1	c.6180C>T	NM_001009944.2	NP_001009944.2:p.(Ala2060=)	NC_000016.9:g.2158988G>A	(Likely) benign	1 lab	abf13aa5fb
X:118147117 LONRF3 C>T	X	118147117	118147117	C	T	LONRF3	c.1927C>T	NM_001031855.2	NP_001027026.1:p.(Arg643Trp)	NC_000023.10:g.118147117C>T	VUS	1 lab	abf17cc5a4
1:216420250 USH2A C>T	1	216420250	216420250	C	T	USH2A	c.2486G>A	NM_206933.2	NP_996816.2:p.(Cys829Tyr)	NC_000001.10:g.216420250C>T	VUS	1 lab	abf1882f95
X:129149986 BCORL1 G>A	X	129149986	129149986	G	A	BCORL1	c.3238G>A	NM_001184772.2	NP_001171701.1:p.(Ala1080Thr)	NC_000023.10:g.129149986G>A	(Likely) benign	1 lab	abf3b1f75a
20:25303977 ABHD12 C>T	20	25303977	25303977	C	T	ABHD12	c.406G>A	NM_001042472.3	NP_001035937.1:p.(Val136Met)	NC_000020.10:g.25303977C>T	VUS	1 lab	abf563e19c
17:78086698 GAA G>T	17	78086698	78086698	G	T	GAA	c.1912G>T	NM_000152.3	NP_000143.2:p.(Gly638Trp)	NC_000017.10:g.78086698G>T	(Likely) pathogenic	1 lab	abf589ab3a
4:79238668 FRAS1 G>A	4	79238668	79238668	G	A	FRAS1	c.1960+6G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79238668G>A	(Likely) benign	1 lab	abf693e3c7
2:187455251 ITGAV G>A	2	187455251	187455251	G	A	ITGAV	c.185+1G>A	NM_002210.5	NP_002201.2:p.?	NC_000002.11:g.187455251G>A	VUS	1 lab	abf8c81ba3
6:33134299 COL11A2 G>A	6	33134299	33134299	G	A	COL11A2	c.4383C>T	NM_080680.2	NP_542411.2:p.(Pro1461=)	NC_000006.11:g.33134299G>A	(Likely) benign	1 lab	abfae13117
17:48655694 CACNA1G C>T	17	48655694	48655694	C	T	CACNA1G	c.2070C>T	NM_018896.4	NP_061496.2:p.(Ser690=)	NC_000017.10:g.48655694C>T	(Likely) benign	1 lab	abfce58dec
7:99704460 AP4M1 G>A	7	99704460	99704460	G	A	AP4M1	c.1317G>A	NM_004722.3	NP_004713.2:p.(Trp439Ter)	NC_000007.13:g.99704460G>A	(Likely) pathogenic	1 lab	abfd3619ad
19:17056473 MISSING G>A	19	17056473	17056473	G	A	MISSING				NC_000019.9:g.17056473G>A	(Likely) benign	1 lab	abfe343cde
X:46510832 SLC9A7 T>C	X	46510832	46510832	T	C	SLC9A7	c.1152A>G	NM_032591.2	NP_115980.1:p.(Val384=)	NC_000023.10:g.46510832T>C	(Likely) benign	1 lab	abfe7a8bb5
1:155408600 MISSING T>C	1	155408600	155408600	T	C	MISSING				NC_000001.10:g.155408600T>C	(Likely) benign	1 lab	abfeeaaa4f
X:76918956 ATRX C>T	X	76918956	76918956	C	T	ATRX	c.4035G>A	NM_000489.5	NP_000480.3:p.(Leu1345=)	NC_000023.10:g.76918956C>T	(Likely) benign	1 lab	abfeed5fd7
22:34046597 LARGE1 G>A	22	34046597	34046597	G	A	LARGE1	c.164C>T	NM_004737.5	NP_004728.1:p.(Thr55Met)	NC_000022.10:g.34046597G>A	(Likely) benign	1 lab	abff4e2d68
1:152327997 FLG2 G>T	1	152327997	152327997	G	T	FLG2	c.2265C>A	NM_001014342.2	NP_001014364.1:p.(Ser755=)	NC_000001.10:g.152327997G>T	(Likely) benign	1 lab	ac01331fef
11:1092851 MISSING C>G	11	1092851	1092851	C	G	MISSING				NC_000011.9:g.1092851C>G	(Likely) benign	1 lab	ac030848ab
1:204378654 PPP1R15B G>C	1	204378654	204378654	G	C	PPP1R15B	c.1886C>G	NM_032833.4	NP_116222.4:p.(Ser629Cys)	NC_000001.10:g.204378654G>C	(Likely) benign	1 lab	ac055be3d3
17:29556167 NF1 G>A	17	29556167	29556167	G	A	NF1	c.2534G>A	NM_000267.3	NP_000258.1:p.(Cys845Tyr)	NC_000017.10:g.29556167G>A	VUS	1 lab	ac05f22dba
6:87968780 ZNF292 G>A	6	87968780	87968780	G	A	ZNF292	c.5013G>A	NM_001351444.1	NP_001338373.1:p.(Pro1671=)	NC_000006.11:g.87968780G>A	(Likely) benign	1 lab	ac064dd119
10:84718727 NRG3 G>A	10	84718727	84718727	G	A	NRG3	c.1180G>A	NM_001010848.3	NP_001010848.2:p.(Glu394Lys)	NC_000010.10:g.84718727G>A	VUS	1 lab	ac0955659f
X:48823203 KCND1 C>A	X	48823203	48823203	C	A	KCND1	c.1333G>T	NM_004979.5	NP_004970.3:p.(Ala445Ser)	NC_000023.10:g.48823203C>A	(Likely) benign	1 lab	ac0a057e5d
17:29560209 NF1 A>G	17	29560209	29560209	A	G	NF1	c.3686A>G	NM_000267.3	NP_000258.1:p.(Asn1229Ser)	NC_000017.10:g.29560209A>G	VUS	1 lab	ac0ab67637
17:29508805 NF1 T>C	17	29508805	29508805	T	C	NF1	c.730+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508805T>C	(Likely) pathogenic	1 lab	ac0b129e0d
4:121774644 PRDM5 G>A	4	121774644	121774644	G	A	PRDM5	c.229C>T	NM_018699.3	NP_061169.2:p.(Arg77Trp)	NC_000004.11:g.121774644G>A	VUS	1 lab	ac0b16d3f7
2:179604166 TTN A>G	2	179604166	179604166	A	G	TTN	c.13794T>C	NM_001267550.1	NP_001254479.1:p.(Gly4598=)	NC_000002.11:g.179604166A>G	(Likely) benign	1 lab	ac0d1543c3
X:15565032 BMX G>A	X	15565032	15565032	G	A	BMX	c.1783G>A	NM_203281.2	NP_975010.1:p.(Val595Ile)	NC_000023.10:g.15565032G>A	VUS	1 lab	ac0f41e713
X:46951467 RGN A>C	X	46951467	46951467	A	C	RGN	c.702A>C	NM_152869.4	NP_690608.1:p.(Arg234Ser)	NC_000023.10:g.46951467A>C	(Likely) benign	1 lab	ac1079e0a4
12:120574457 GCN1 G>C	12	120574457	120574457	G	C	GCN1	c.6857C>G	NM_006836.2	NP_006827.1:p.(Ala2286Gly)	NC_000012.11:g.120574457G>C	(Likely) benign	1 lab	ac11c7f0e5
3:64133068 PRICKLE2 T>G	3	64133068	64133068	T	G	PRICKLE2	c.1098A>C	NM_198859.3	NP_942559.1:p.(Ser366=)	NC_000003.11:g.64133068T>G	(Likely) benign	1 lab	ac13b33a0e
13:39454424 FREM2 G>A	13	39454424	39454424	G	A	FREM2	c.9010G>A	NM_207361.5	NP_997244.4:p.(Ala3004Thr)	NC_000013.10:g.39454424G>A	(Likely) benign	1 lab	ac14512160
3:193332717 OPA1 T>C	3	193332717	193332717	T	C	OPA1	c.238T>C	NM_130837.2	NP_570850.2:p.(Tyr80His)	NC_000003.11:g.193332717T>C	(Likely) benign	1 lab	ac1554d869
X:105190439 NRK G>A	X	105190439	105190439	G	A	NRK	c.4336G>A	NM_198465.3	NP_940867.2:p.(Val1446Met)	NC_000023.10:g.105190439G>A	(Likely) benign	1 lab	ac155a9195
1:3739732 CEP104 C>T	1	3739732	3739732	C	T	CEP104	c.2571+6G>A	NM_014704.3	NP_055519.1:p.?	NC_000001.10:g.3739732C>T	(Likely) benign	1 lab	ac16545e9f
4:151829484 LRBA A>T	4	151829484	151829484	A	T	LRBA	c.1493+2T>A	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151829484A>T	(Likely) pathogenic	1 lab	ac16cb316b
1:2235369 SKI G>A	1	2235369	2235369	G	A	SKI	c.1302G>A	NM_003036.3	NP_003027.1:p.(Pro434=)	NC_000001.10:g.2235369G>A	(Likely) benign	1 lab	ac1707aa68
X:24828029 POLA1 G>A	X	24828029	24828029	G	A	POLA1	c.2961G>A	NM_016937.3	NP_058633.2:p.(Thr987=)	NC_000023.10:g.24828029G>A	(Likely) benign	1 lab	ac18a9408a
14:21052593 RNASE11 ACCAGGC>A	14	21052593	21052605	ACCAGGC	A	RNASE11	c.35_40del	NM_001394190.1	NP_001381119.1:p.(Gly12_Leu13del)	NC_000014.8:g.21052600_21052605del	VUS	1 lab	ac19161c82
14:105405495 AHNAK2 G>C	14	105405495	105405495	G	C	AHNAK2	c.16293C>G	NM_138420.3	NP_612429.2:p.(Leu5431=)	NC_000014.8:g.105405495G>C	(Likely) benign	1 lab	ac191a3a62
12:6632460 NCAPD2 C>G	12	6632460	6632460	C	G	NCAPD2	c.2162C>G	NM_014865.4	NP_055680.3:p.(Ser721Cys)	NC_000012.11:g.6632460C>G	VUS	1 lab	ac1ab8abd2
17:40369257 STAT5B G>A	17	40369257	40369257	G	A	STAT5B	c.1301C>T	NM_012448.3	NP_036580.2:p.(Ser434Leu)	NC_000017.10:g.40369257G>A	VUS	1 lab	ac1abdde8f
17:73831531 UNC13D C>A	17	73831531	73831531	C	A	UNC13D	c.1807G>T	NM_199242.2	NP_954712.1:p.(Glu603Ter)	NC_000017.10:g.73831531C>A	(Likely) pathogenic	1 lab	ac1b0053d0
11:121367654 SORL1 C>T	11	121367654	121367654	C	T	SORL1	c.835C>T	NM_003105.5	NP_003096.1:p.(Arg279Ter)	NC_000011.9:g.121367654C>T	(Likely) pathogenic	1 lab	ac1cc25ac0
7:5780794 RNF216 G>A	7	5780794	5780794	G	A	RNF216	c.854C>T	NM_207111.3	NP_996994.1:p.(Ser285Leu)	NC_000007.13:g.5780794G>A	VUS	1 lab	ac20cb7e61
13:103399753 LRTM3 G>C	13	103399753	103399753	G	C	LRTM3	c.3294C>G	NM_001146197.2	NP_001139669.1:p.(Ile1098Met)	NC_000013.10:g.103399753G>C	VUS	1 lab	ac21c73e3d
10:105484050 SH3PXD2A C>T	10	105484050	105484050	C	T	SH3PXD2A	c.376G>A	NM_014631.2	NP_055446.2:p.(Glu126Lys)	NC_000010.10:g.105484050C>T	VUS	1 lab	ac22eda1c6
16:2152468 PKD1 G>A	16	2152468	2152468	G	A	PKD1	c.9115C>T	NM_001009944.2	NP_001009944.2:p.(Arg3039Cys)	NC_000016.9:g.2152468G>A	VUS	1 lab	ac238cebef
14:105246574 AKT1 A>G	14	105246574	105246574	A	G	AKT1	c.47-21T>C	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105246574A>G	(Likely) benign	1 lab	ac24444880
15:40588834 PLCB2 C>T	15	40588834	40588834	C	T	PLCB2	c.1488G>A	NM_004573.2	NP_004564.2:p.(Val496=)	NC_000015.9:g.40588834C>T	(Likely) benign	1 lab	ac250e5c1a
16:67692249 ACD G>A	16	67692249	67692249	G	A	ACD	c.846C>T	NM_001082486.2	NP_001075955.2:p.(Pro282=)	NC_000016.9:g.67692249G>A	(Likely) benign	1 lab	ac2553418e
12:48372460 COL2A1 CA>C	12	48372460	48372461	CA	C	COL2A1	c.2814del	NM_001844.5	NP_001835.3:p.(Gly939AlafsTer89)	NC_000012.11:g.48372461del	(Likely) pathogenic	1 lab	ac258f471e
4:1729996 TACC3 G>C	4	1729996	1729996	G	C	TACC3	c.867G>C	NM_006342.3	NP_006333.1:p.(Gln289His)	NC_000004.11:g.1729996G>C	(Likely) benign	1 lab	ac2689a247
11:6651627 DCHS1 G>A	11	6651627	6651627	G	A	DCHS1				NC_000011.9:g.6651627G>A	(Likely) benign	1 lab	ac279498a0
9:35707207 TLN1 A>G	9	35707207	35707207	A	G	TLN1	c.4817T>C	NM_006289.4	NP_006280.3:p.(Met1606Thr)	NC_000009.11:g.35707207A>G	VUS	1 lab	ac27b191b6
X:152821606 ATP2B3 G>A	X	152821606	152821606	G	A	ATP2B3	c.2158G>A	NM_021949.3	NP_068768.2:p.(Gly720Ser)	NC_000023.10:g.152821606G>A	VUS	1 lab	ac28381d0e
11:73814255 C2CD3 C>T	11	73814255	73814255	C	T	C2CD3	c.2501G>A	NM_001286577.1	NP_001273506.1:p.(Cys834Tyr)	NC_000011.9:g.73814255C>T	VUS	1 lab	ac28808e5d
X:32613940 DMD G>A	X	32613940	32613940	G	A	DMD	c.1167C>T	NM_004010.3	NP_004001.1:p.(His389=)	NC_000023.10:g.32613940G>A	(Likely) benign	1 lab	ac28a863cc
11:67925320 KMT5B AGAG>A	11	67925320	67925328	AGAG	A	KMT5B	c.2490_2492del	NM_017635.5	NP_060105.3:p.(Ser832del)	NC_000011.9:g.67925326_67925328del	VUS	1 lab	ac29b031fa
7:5460845 TNRC18 G>A	7	5460845	5460845	G	A	TNRC18	c.33C>T	NM_001080495.2	NP_001073964.2:p.(Ser11=)	NC_000007.13:g.5460845G>A	(Likely) benign	1 lab	ac2a5c7bd3
18:56400644 MALT1 C>T	18	56400644	56400644	C	T	MALT1	c.1238C>T	NM_006785.4	NP_006776.1:p.(Ala413Val)	NC_000018.9:g.56400644C>T	VUS	1 lab	ac2af3eb50
12:6639060 NCAPD2 C>A	12	6639060	6639060	C	A	NCAPD2	c.3773C>A	NM_014865.4	NP_055680.3:p.(Ser1258Tyr)	NC_000012.11:g.6639060C>A	VUS	1 lab	ac2f4045de
X:108636180 GUCY2F A>G	X	108636180	108636180	A	G	GUCY2F	c.2529T>C	NM_001522.2	NP_001513.2:p.(Thr843=)	NC_000023.10:g.108636180A>G	(Likely) benign	1 lab	ac31063903
1:181701767 MISSING C>A	1	181701767	181701767	C	A	MISSING				NC_000001.10:g.181701767C>A	(Likely) benign	1 lab	ac32c9bc9c
2:220034299 SLC23A3 G>A	2	220034299	220034299	G	A	SLC23A3	c.264C>T	NM_001144890.1	NP_001138362.1:p.(Ala88=)	NC_000002.11:g.220034299G>A	(Likely) benign	1 lab	ac33e42ccd
X:69626887 KIF4A A>T	X	69626887	69626887	A	T	KIF4A	c.3217A>T	NM_012310.4	NP_036442.3:p.(Thr1073Ser)	NC_000023.10:g.69626887A>T	(Likely) benign	1 lab	ac34002491
2:220423156 OBSL1 C>T	2	220423156	220423156	C	T	OBSL1	c.3252G>A	NM_015311.2	NP_056126.1:p.(Pro1084=)	NC_000002.11:g.220423156C>T	(Likely) benign	1 lab	ac340376d7
13:60545118 DIAPH3 A>C	13	60545118	60545118	A	C	DIAPH3	c.1827T>G	NM_001042517.1	NP_001035982.1:p.(Pro609=)	NC_000013.10:g.60545118A>C	(Likely) benign	1 lab	ac347e595b
10:129902596 MKI67 C>T	10	129902596	129902596	C	T	MKI67	c.7508G>A	NM_002417.4	NP_002408.3:p.(Arg2503Gln)	NC_000010.10:g.129902596C>T	(Likely) benign	1 lab	ac34a36b63
11:6640117 TPP1 C>T	11	6640117	6640117	C	T	TPP1	c.119G>A	NM_000391.3	NP_000382.3:p.(Arg40His)	NC_000011.9:g.6640117C>T	VUS	1 lab	ac392ac81d
X:119211065 RHOXF2B A>T	X	119211065	119211065	A	T	RHOXF2B	c.268T>A	NM_001099685.2	NP_001093155.1:p.(Trp90Arg)	NC_000023.10:g.119211065A>T	(Likely) benign	1 lab	ac398729be
20:31368275 DNMT3B G>T	20	31368275	31368275	G	T	DNMT3B	c.142+4G>T	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31368275G>T	(Likely) benign	1 lab	ac3b820d4b
11:67926251 KMT5B G>A	11	67926251	67926251	G	A	KMT5B	c.1046C>T	NM_001300907.1	NP_001287836.1:p.(Pro349Leu)	NC_000011.9:g.67926251G>A	(Likely) benign	1 lab	ac3c1021d4
2:49190377 FSHR T>C	2	49190377	49190377	T	C	FSHR	c.1583A>G	NM_000145.3	NP_000136.2:p.(Gln528Arg)	NC_000002.11:g.49190377T>C	VUS	1 lab	ac3dea2a37
7:142460710 PRSS1 T>C	7	142460710	142460710	T	C	PRSS1	c.592-9T>C	NM_002769.4	NP_002760.1:p.?	NC_000007.13:g.142460710T>C	(Likely) benign	1 lab	ac3df30d9b
12:122710543 DIABLO A>T	12	122710543	122710543	A	T	DIABLO	c.19T>A	NM_019887.5	NP_063940.1:p.(Trp7Arg)	NC_000012.11:g.122710543A>T	(Likely) benign	1 lab	ac402a653f
7:156584567 LMBR1 G>C	7	156584567	156584567	G	C	LMBR1	c.423+4516C>G	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584567G>C	(Likely) benign	1 lab	ac402f563d
10:135009230 KNDC1 C>CT	10	135009230	135009231	C	CT	KNDC1	c.1639_1640insT	NM_152643.7	NP_689856.6:p.(His547LeufsTer29)	NC_000010.10:g.135009230_135009231insT	VUS	1 lab	ac4167bc2a
11:6238691 FHIP1B C>T	11	6238691	6238691	C	T	FHIP1B	c.2167G>A	NM_032127.3	NP_115503.2:p.(Glu723Lys)	NC_000011.9:g.6238691C>T	(Likely) benign	1 lab	ac4202975c
4:108866372 CYP2U1 G>C	4	108866372	108866372	G	C	CYP2U1	c.737G>C	NM_183075.2	NP_898898.1:p.(Ser246Thr)	NC_000004.11:g.108866372G>C	(Likely) benign	1 lab	ac44520673
X:130409661 IGSF1 C>T	X	130409661	130409661	C	T	IGSF1	c.2990G>A	NM_001170961.1	NP_001164432.1:p.(Arg997Gln)	NC_000023.10:g.130409661C>T	(Likely) benign	1 lab	ac44546995
9:136308556 ADAMTS13 G>A	9	136308556	136308556	G	A	ADAMTS13	c.2294G>A	NM_139025.4	NP_620594.1:p.(Arg765Gln)	NC_000009.11:g.136308556G>A	VUS	1 lab	ac445c5717
2:216232707 FN1 G>C	2	216232707	216232707	G	C	FN1	c.6897C>G	NM_212482.2	NP_997647.1:p.(Asp2299Glu)	NC_000002.11:g.216232707G>C	VUS	1 lab	ac47abe642
16:89346596 ANKRD11 C>T	16	89346596	89346596	C	T	ANKRD11	c.6354G>A	NM_001256182.1	NP_001243111.1:p.(Val2118=)	NC_000016.9:g.89346596C>T	(Likely) benign	1 lab	ac484a5447
7:150389765 GIMAP2 G>A	7	150389765	150389765	G	A	GIMAP2	c.391G>A	NM_015660.3	NP_056475.1:p.(Glu131Lys)	NC_000007.13:g.150389765G>A	VUS	1 lab	ac4a792933
4:16204092 TAPT1 C>T	4	16204092	16204092	C	T	TAPT1	c.442G>A	NM_153365.2	NP_699196.2:p.(Gly148Ser)	NC_000004.11:g.16204092C>T	VUS	1 lab	ac4d0f7807
11:124750471 ROBO3 C>A	11	124750471	124750471	C	A	ROBO3	c.4116C>A	NM_022370.3	NP_071765.2:p.(Ser1372Arg)	NC_000011.9:g.124750471C>A	(Likely) benign	1 lab	ac4f3e51ba
17:29533237 NF1 T>G	17	29533237	29533237	T	G	NF1	c.1261-21T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29533237T>G	(Likely) pathogenic	1 lab	ac4ff6b96e
20:43280242 ADA G>A	20	43280242	43280242	G	A	ADA	c.7C>T	NM_000022.2	NP_000013.2:p.(Gln3Ter)	NC_000020.10:g.43280242G>A	(Likely) pathogenic	1 lab	ac517871cf
21:43161030 RIPK4 C>T	21	43161030	43161030	C	T	RIPK4	c.2323G>A	NM_020639.2	NP_065690.2:p.(Ala775Thr)	NC_000021.8:g.43161030C>T	(Likely) benign	1 lab	ac518a0834
19:45871956 ERCC2 C>T	19	45871956	45871956	C	T	ERCC2	c.292G>A	NM_000400.3	NP_000391.1:p.(Glu98Lys)	NC_000019.9:g.45871956C>T	(Likely) benign	1 lab	ac51b8ff74
X:53577619 HUWE1 A>G	X	53577619	53577619	A	G	HUWE1	c.9488+8T>C	NM_031407.6	NP_113584.3:p.?	NC_000023.10:g.53577619A>G	(Likely) benign	1 lab	ac51e445df
1:1149117 TNFRSF4 C>A	1	1149117	1149117	C	A	TNFRSF4	c.194G>T	NM_003327.4	NP_003318.1:p.(Arg65Leu)	NC_000001.10:g.1149117C>A	(Likely) benign	1 lab	ac5274108e
6:66200561 EYS T>C	6	66200561	66200561	T	C	EYS	c.788A>G	NM_001292009.1	NP_001278938.1:p.(His263Arg)	NC_000006.11:g.66200561T>C	VUS	1 lab	ac52ab6ecc
20:25282971 ABHD12 G>A	20	25282971	25282971	G	A	ABHD12	c.1041C>T	NM_001042472.3	NP_001035937.1:p.(Ile347=)	NC_000020.10:g.25282971G>A	(Likely) benign	1 lab	ac52ea8dd0
11:110451827 ARHGAP20 C>T	11	110451827	110451827	C	T	ARHGAP20	c.1774G>A	NM_001258415.1	NP_001245344.1:p.(Asp592Asn)	NC_000011.9:g.110451827C>T	VUS	1 lab	ac5328455d
8:145109480 OPLAH G>GC	8	145109480	145109486	G	GC	OPLAH	c.2669dup	NM_017570.4	NP_060040.1:p.(Val891ArgfsTer71)	NC_000008.10:g.145109486dup	(Likely) pathogenic	1 lab	ac5447e374
3:132434071 NPHP3 A>G	3	132434071	132434071	A	G	NPHP3	c.824-9T>C	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132434071A>G	(Likely) benign	1 lab	ac54d4cb09
3:33087648 GLB1 A>G	3	33087648	33087648	A	G	GLB1	c.1176T>C	NM_001317040.1	NP_001303969.1:p.(Thr392=)	NC_000003.11:g.33087648A>G	(Likely) benign	1 lab	ac5620392f
X:63444939 ASB12 G>A	X	63444939	63444939	G	A	ASB12	c.592C>T	NM_130388.3	NP_569059.3:p.(Arg198Cys)	NC_000023.10:g.63444939G>A	(Likely) benign	1 lab	ac565ea16b
1:154574541 ADAR G>A	1	154574541	154574541	G	A	ADAR	c.577C>T	NM_001111.5	NP_001102.3:p.(Pro193Ser)	NC_000001.10:g.154574541G>A	VUS	1 lab	ac56b67963
9:124074677 GSN G>C	9	124074677	124074677	G	C	GSN	c.574G>C	NM_001353053.1	NP_001339982.1:p.(Val192Leu)	NC_000009.11:g.124074677G>C	VUS	1 lab	ac56f480e3
17:58740537 PPM1D C>A	17	58740537	58740537	C	A	PPM1D	c.1442C>A	NM_003620.3	NP_003611.1:p.(Ala481Asp)	NC_000017.10:g.58740537C>A	(Likely) pathogenic	1 lab	ac5b5dfe07
17:38953522 KRT28 A>G	17	38953522	38953522	A	G	KRT28	c.702T>C	NM_181535.3	NP_853513.2:p.(Ala234=)	NC_000017.10:g.38953522A>G	(Likely) benign	1 lab	ac5cde7edc
17:76120166 TMC6 G>A	17	76120166	76120166	G	A	TMC6	c.986C>T	NM_001127198.2	NP_001120670.1:p.(Thr329Ile)	NC_000017.10:g.76120166G>A	(Likely) benign	1 lab	ac5ce928e7
2:179586982 TTN A>G	2	179586982	179586982	A	G	TTN	c.22528+4T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179586982A>G	(Likely) benign	1 lab	ac60014a82
10:88469788 LDB3 G>A	10	88469788	88469788	G	A	LDB3	c.1227G>A	NM_001171610.1	NP_001165081.1:p.(Arg409=)	NC_000010.10:g.88469788G>A	(Likely) benign	1 lab	ac61bfd313
2:202490843 TMEM237 G>C	2	202490843	202490843	G	C	TMEM237	c.1041C>G	NM_152388.3	NP_689601.2:p.(Leu347=)	NC_000002.11:g.202490843G>C	(Likely) benign	1 lab	ac62b94249
17:78325565 RNF213 G>A	17	78325565	78325565	G	A	RNF213	c.10265G>A	NM_001256071.2	NP_001243000.2:p.(Arg3422Gln)	NC_000017.10:g.78325565G>A	VUS	1 lab	ac63e91c96
X:47073815 UBA1 C>T	X	47073815	47073815	C	T	UBA1	c.2928C>T	NM_003334.4	NP_003325.2:p.(Leu976=)	NC_000023.10:g.47073815C>T	(Likely) benign	1 lab	ac6549bde3
14:53560056 DDHD1 G>A	14	53560056	53560056	G	A	DDHD1	c.1119C>T	NM_001160148.1	NP_001153620.1:p.(Thr373=)	NC_000014.8:g.53560056G>A	(Likely) benign	1 lab	ac66759e65
11:17631715 OTOG G>A	11	17631715	17631715	G	A	OTOG	c.4904G>A	NM_001277269.1	NP_001264198.1:p.(Arg1635Gln)	NC_000011.9:g.17631715G>A	VUS	1 lab	ac66f7f7e1
13:28222543 POLR1D G>A	13	28222543	28222543	G	A	POLR1D	c.54G>A	NM_152705.2	NP_689918.1:p.(Glu18=)	NC_000013.10:g.28222543G>A	(Likely) benign	1 lab	ac672bab4d
4:110682723 CFI G>A	4	110682723	110682723	G	A	CFI	c.608C>T	NM_001318057.1	NP_001304986.1:p.(Thr203Ile)	NC_000004.11:g.110682723G>A	(Likely) benign	1 lab	ac6814e505
5:82817656 VCAN T>C	5	82817656	82817656	T	C	VCAN	c.3531T>C	NM_004385.4	NP_004376.2:p.(Asp1177=)	NC_000005.9:g.82817656T>C	(Likely) benign	1 lab	ac6a3bf095
12:102151113 GNPTAB A>G	12	102151113	102151113	A	G	GNPTAB	c.3336-25T>C	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102151113A>G	(Likely) benign	1 lab	ac6a431358
9:131670817 LRRC8A C>T	9	131670817	131670817	C	T	LRRC8A	c.1374C>T	NM_001127244.1	NP_001120716.1:p.(Asp458=)	NC_000009.11:g.131670817C>T	(Likely) benign	1 lab	ac6a82d137
13:52508904 ATP7B C>T	13	52508904	52508904	C	T	ATP7B	c.4386G>A	NM_000053.3	NP_000044.2:p.(Glu1462=)	NC_000013.10:g.52508904C>T	(Likely) benign	1 lab	ac6e5ffaff
19:56125239 ZNF865 C>A	19	56125239	56125239	C	A	ZNF865	c.255C>A	NM_001195605.1	NP_001182534.1:p.(Phe85Leu)	NC_000019.9:g.56125239C>A	(Likely) benign	1 lab	ac6fef31c8
X:151870218 MAGEA6 T>C	X	151870218	151870218	T	C	MAGEA6	c.908T>C	NM_175868.2	NP_787064.1:p.(Leu303Pro)	NC_000023.10:g.151870218T>C	(Likely) benign	1 lab	ac6ff6897f
2:128186008 PROC A>T	2	128186008	128186008	A	T	PROC	c.872A>T	NM_000312.3	NP_000303.1:p.(Tyr291Phe)	NC_000002.11:g.128186008A>T	VUS	1 lab	ac70cba71d
15:80843578 ARNT2 G>A	15	80843578	80843578	G	A	ARNT2	c.916G>A	NM_014862.4	NP_055677.3:p.(Gly306Ser)	NC_000015.9:g.80843578G>A	VUS	1 lab	ac730b2bf1
2:74691677 MOGS C>T	2	74691677	74691677	C	T	MOGS	c.525G>A	NM_006302.3	NP_006293.2:p.(Arg175=)	NC_000002.11:g.74691677C>T	(Likely) benign	1 lab	ac742f7e9f
3:195517692 MUC4 G>C	3	195517692	195517692	G	C	MUC4	c.759C>G	NM_018406.6	NP_060876.5:p.(Val253=)	NC_000003.11:g.195517692G>C	(Likely) benign	1 lab	ac7632296f
11:22296282 ANO5 C>T	11	22296282	22296282	C	T	ANO5	c.2403C>T	NM_213599.2	NP_998764.1:p.(Phe801=)	NC_000011.9:g.22296282C>T	(Likely) benign	1 lab	ac7756dcdc
22:42607028 TCF20 T>C	22	42607028	42607028	T	C	TCF20	c.4284A>G	NM_005650.3	NP_005641.1:p.(Lys1428=)	NC_000022.10:g.42607028T>C	(Likely) benign	1 lab	ac77614527
X:38540530 TSPAN7 G>A	X	38540530	38540530	G	A	TSPAN7	c.670G>A	NM_004615.3	NP_004606.2:p.(Ala224Thr)	NC_000023.10:g.38540530G>A	VUS	1 lab	ac778dc656
15:25599610 UBE3A ATAC>A	15	25599610	25599617	ATAC	A	UBE3A	c.2281-40_2281-38del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25599615_25599617del	(Likely) benign	1 lab	ac79964154
3:148894088 CP C>T	3	148894088	148894088	C	T	CP	c.3130G>A	NM_000096.3	NP_000087.1:p.(Asp1044Asn)	NC_000003.11:g.148894088C>T	VUS	1 lab	ac7a94c615
19:48640866 LIG1 G>C	19	48640866	48640866	G	C	LIG1	c.1164C>G	NM_001320970.1	NP_001307899.1:p.(Thr388=)	NC_000019.9:g.48640866G>C	(Likely) benign	1 lab	ac7b1abec5
2:206997831 NDUFS1 T>G	2	206997831	206997831	T	G	NDUFS1	c.1393-2A>C	NM_005006.6	NP_004997.4:p.?	NC_000002.11:g.206997831T>G	(Likely) pathogenic	1 lab	ac7bc21107
16:2129261 TSC2 G>A	16	2129261	2129261	G	A	TSC2	c.3132-16G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129261G>A	(Likely) benign	1 lab	ac7f21d00d
15:77323565 PSTPIP1 C>A	15	77323565	77323565	C	A	PSTPIP1	c.660C>A	NM_001321136.1	NP_001308065.1:p.(Asn220Lys)	NC_000015.9:g.77323565C>A	VUS	1 lab	ac810acc5c
1:16464591 EPHA2 G>A	1	16464591	16464591	G	A	EPHA2	c.1069C>T	NM_004431.4	NP_004422.2:p.(Arg357Cys)	NC_000001.10:g.16464591G>A	VUS	1 lab	ac81839b11
16:2131695 TSC2 CG>C	16	2131695	2131697	CG	C	TSC2	c.3712del	NM_000548.5	NP_000539.2:p.(Ala1238LeufsTer87)	NC_000016.9:g.2131697del	(Likely) pathogenic	1 lab	ac84260045
3:33093471 GLB1 CA>AG	3	33093471	33093472	CA	AG	GLB1	c.817_818delinsCT	NM_000404.3	NP_000395.2:p.(Trp273Leu)	NC_000003.11:g.33093471_33093472delinsAG	(Likely) pathogenic	1 lab	ac851bb326
1:33235611 NHSL3 G>C	1	33235611	33235611	G	C	NHSL3	c.831G>C	NM_020888.3	NP_065939.2:p.(Ala277=)	NC_000001.10:g.33235611G>C	(Likely) benign	1 lab	ac85b9c3e6
18:45567075 ZBTB7C T>TG	18	45567075	45567076	T	TG	ZBTB7C	c.403_404insC	NM_001318841.2	NP_001305770.1:p.(Glu135AlafsTer4)	NC_000018.9:g.45567075_45567076insG	VUS	1 lab	ac861b3839
19:7606431 PNPLA6 C>T	19	7606431	7606431	C	T	PNPLA6	c.1056C>T	NM_001166111.1	NP_001159583.1:p.(Phe352=)	NC_000019.9:g.7606431C>T	(Likely) benign	1 lab	ac871d24d9
17:29552151 NF1 CG>C	17	29552151	29552155	CG	C	NF1	c.1888del	NM_001042492.3	NP_001035957.1:p.(Val630Ter)	NC_000017.10:g.29552155del	(Likely) pathogenic	1 lab	ac8b5bdf9f
X:20173554 RPS6KA3 G>T	X	20173554	20173554	G	T	RPS6KA3	c.2185C>A	NM_004586.2	NP_004577.1:p.(Arg729=)	NC_000023.10:g.20173554G>T	(Likely) benign	1 lab	ac8c24fd94
6:3081326 RIPK1 T>C	6	3081326	3081326	T	C	RIPK1	c.435T>C	NM_003804.5	NP_003795.2:p.(Leu145=)	NC_000006.11:g.3081326T>C	(Likely) benign	1 lab	ac8dbc3ca9
X:153591075 FLNA G>A	X	153591075	153591075	G	A	FLNA	c.2358C>T	NM_001110556.2	NP_001104026.1:p.(Ala786=)	NC_000023.10:g.153591075G>A	(Likely) benign	1 lab	ac8f022693
12:83358825 TMTC2 A>G	12	83358825	83358825	A	G	TMTC2	c.1621A>G	NM_152588.3	NP_689801.1:p.(Ser541Gly)	NC_000012.11:g.83358825A>G	(Likely) benign	1 lab	ac8fccafdd
8:105053551 RIMS2 C>G	8	105053551	105053551	C	G	RIMS2	c.3560-3C>G	NM_001348484.1	NP_001335413.1:p.?	NC_000008.10:g.105053551C>G	VUS	1 lab	ac8fe24055
1:158054299 KIRREL1 A>G	1	158054299	158054299	A	G	KIRREL1	c.140A>G	NM_001286349.1	NP_001273278.1:p.(Asn47Ser)	NC_000001.10:g.158054299A>G	(Likely) benign	1 lab	ac900548ee
17:5487190 NLRP1 T>C	17	5487190	5487190	T	C	NLRP1	c.88A>G	NM_033004.4	NP_127497.1:p.(Asn30Asp)	NC_000017.10:g.5487190T>C	(Likely) benign	1 lab	ac9166d23b
X:41088560 USP9X A>G	X	41088560	41088560	A	G	USP9X	c.7116A>G	NM_001039590.2	NP_001034679.2:p.(Thr2372=)	NC_000023.10:g.41088560A>G	(Likely) benign	1 lab	ac917d74ba
12:49438253 KMT2D A>G	12	49438253	49438253	A	G	KMT2D	c.5016T>C	NM_003482.3	NP_003473.3:p.(Pro1672=)	NC_000012.11:g.49438253A>G	(Likely) benign	1 lab	ac919e6190
1:235938297 LYST A>G	1	235938297	235938297	A	G	LYST	c.5550T>C	NM_001301365.1	NP_001288294.1:p.(His1850=)	NC_000001.10:g.235938297A>G	(Likely) benign	1 lab	ac92fa30a6
4:79387428 FRAS1 G>A	4	79387428	79387428	G	A	FRAS1	c.7096G>A	NM_025074.7	NP_079350.5:p.(Gly2366Arg)	NC_000004.11:g.79387428G>A	VUS	1 lab	ac941d040e
15:99440161 IGF1R C>T	15	99440161	99440161	C	T	IGF1R	c.1102+27C>T	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99440161C>T	(Likely) benign	1 lab	ac94829ea2
12:49443806 KMT2D G>A	12	49443806	49443806	G	A	KMT2D	c.3565C>T	NM_003482.3	NP_003473.3:p.(Arg1189Cys)	NC_000012.11:g.49443806G>A	(Likely) benign	1 lab	ac96754702
12:100774713 SLC17A8 T>C	12	100774713	100774713	T	C	SLC17A8	c.336T>C	NM_139319.2	NP_647480.1:p.(Asp112=)	NC_000012.11:g.100774713T>C	(Likely) benign	1 lab	ac9779a95a
1:155408771 MISSING C>T	1	155408771	155408771	C	T	MISSING				NC_000001.10:g.155408771C>T	(Likely) benign	1 lab	ac97fc5166
8:145746542 LRRC14 A>G	8	145746542	145746542	A	G	LRRC14	c.1162A>G	NM_001272036.1	NP_001258965.1:p.(Ile388Val)	NC_000008.10:g.145746542A>G	(Likely) benign	1 lab	ac991fecfe
7:91641825 AKAP9 A>G	7	91641825	91641825	A	G	AKAP9	c.3401A>G	NM_005751.4	NP_005742.4:p.(Tyr1134Cys)	NC_000007.13:g.91641825A>G	VUS	1 lab	ac99604121
4:187540690 FAT1 G>A	4	187540690	187540690	G	A	FAT1	c.7050C>T	NM_005245.3	NP_005236.2:p.(Tyr2350=)	NC_000004.11:g.187540690G>A	(Likely) benign	1 lab	ac9a56e811
X:72433575 NAP1L2 C>G	X	72433575	72433575	C	G	NAP1L2	c.754G>C	NM_021963.3	NP_068798.1:p.(Asp252His)	NC_000023.10:g.72433575C>G	VUS	1 lab	ac9ae73cd5
11:17632082 OTOG C>A	11	17632082	17632082	C	A	OTOG	c.5271C>A	NM_001277269.1	NP_001264198.1:p.(Leu1757=)	NC_000011.9:g.17632082C>A	(Likely) benign	1 lab	ac9c39b710
8:68062164 CSPP1 A>G	8	68062164	68062164	A	G	CSPP1	c.2107A>G	NM_024790.6	NP_079066.5:p.(Ser703Gly)	NC_000008.10:g.68062164A>G	(Likely) benign	1 lab	ac9e123794
1:15894364 DNAJC16 A>G	1	15894364	15894364	A	G	DNAJC16	c.2041A>G	NM_015291.4	NP_056106.1:p.(Ile681Val)	NC_000001.10:g.15894364A>G	(Likely) benign	1 lab	ac9ede77d2
14:73664784 PSEN1 T>C	14	73664784	73664784	T	C	PSEN1	c.815T>C	NM_000021.3	NP_000012.1:p.(Val272Ala)	NC_000014.8:g.73664784T>C	(Likely) pathogenic	1 lab	ac9f19c17f
1:154562252 ADAR G>A	1	154562252	154562252	G	A	ADAR	c.2649C>T	NM_001111.5	NP_001102.3:p.(Val883=)	NC_000001.10:g.154562252G>A	(Likely) benign	1 lab	aca4c2d812
3:69813060 MITF C>T	3	69813060	69813060	C	T	MITF	c.68C>T	NM_006722.2	NP_006713.1:p.(Thr23Ile)	NC_000003.11:g.69813060C>T	(Likely) benign	1 lab	aca882f9a2
19:40376890 FCGBP GA>G	19	40376890	40376891	GA	G	FCGBP	c.11531del	NM_003890.3	NP_003881.2:p.(Ile3844ThrfsTer43)	NC_000019.9:g.40376891del	(Likely) benign	1 lab	aca8e9cd58
5:77523237 AP3B1 A>G	5	77523237	77523237	A	G	AP3B1	c.348T>C	NM_001271769.1	NP_001258698.1:p.(Tyr116=)	NC_000005.9:g.77523237A>G	(Likely) benign	1 lab	aca98fd8c7
9:117849373 TNC C>T	9	117849373	117849373	C	T	TNC	c.637G>A	NM_002160.3	NP_002151.2:p.(Gly213Ser)	NC_000009.11:g.117849373C>T	(Likely) benign	1 lab	acab9c1f32
7:141315267 AGK C>G	7	141315267	141315267	C	G	AGK	c.424-4C>G	NM_018238.4	NP_060708.1:p.?	NC_000007.13:g.141315267C>G	(Likely) benign	1 lab	acabae4bbb
3:48507934 ATRIP G>T	3	48507934	48507934	G	T	ATRIP	c.*981G>T	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507934G>T	(Likely) benign	1 lab	acae364dc0
X:112024131 AMOT C>T	X	112024131	112024131	C	T	AMOT	c.2456G>A	NM_001113490.1	NP_001106962.1:p.(Ser819Asn)	NC_000023.10:g.112024131C>T	VUS	1 lab	acb0d52c3f
7:5764977 RNF216 G>A	7	5764977	5764977	G	A	RNF216	c.1482C>T	NM_207111.3	NP_996994.1:p.(Tyr494=)	NC_000007.13:g.5764977G>A	(Likely) benign	1 lab	acb5682ba9
3:184039163 EIF4G1 C>T	3	184039163	184039163	C	T	EIF4G1	c.791C>T	NM_182917.4	NP_886553.3:p.(Pro264Leu)	NC_000003.11:g.184039163C>T	VUS	1 lab	acb568a99c
14:88904566 SPATA7 C>T	14	88904566	88904566	C	T	SPATA7	c.1600C>T	NM_018418.4	NP_060888.2:p.(Arg534Trp)	NC_000014.8:g.88904566C>T	VUS	1 lab	acb58e8322
2:170127597 LRP2 A>C	2	170127597	170127597	A	C	LRP2	c.2137T>G	NM_004525.3	NP_004516.2:p.(Phe713Val)	NC_000002.11:g.170127597A>C	VUS	1 lab	acb7cb8133
20:60905559 LAMA5 C>T	20	60905559	60905559	C	T	LAMA5	c.3964G>A	NM_005560.4	NP_005551.3:p.(Gly1322Ser)	NC_000020.10:g.60905559C>T	VUS	1 lab	acb8b4c896
6:112457315 LAMA4 T>G	6	112457315	112457315	T	G	LAMA4	c.3414+10A>C	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112457315T>G	(Likely) benign	1 lab	acb99230e4
14:105418263 AHNAK2 C>T	14	105418263	105418263	C	T	AHNAK2	c.3525G>A	NM_138420.3	NP_612429.2:p.(Ala1175=)	NC_000014.8:g.105418263C>T	(Likely) benign	1 lab	acb9b41f5b
10:46342570 AGAP4 C>T	10	46342570	46342570	C	T	AGAP4	c.-67+3G>A	NM_001291379.1	NP_001278308.1:p.?	NC_000010.10:g.46342570C>T	(Likely) benign	1 lab	acba3508ca
9:2039818 SMARCA2 A>G	9	2039818	2039818	A	G	SMARCA2	c.708A>G	NM_003070.4	NP_003061.3:p.(Gln236=)	NC_000009.11:g.2039818A>G	(Likely) benign	1 lab	acbc1eeab4
3:41280807 CTNNB1 C>T	3	41280807	41280807	C	T	CTNNB1	c.2320C>T	NM_001904.3	NP_001895.1:p.(Leu774=)	NC_000003.11:g.41280807C>T	(Likely) benign	1 lab	acbc60a2ab
9:120476357 TLR4 G>T	9	120476357	120476357	G	T	TLR4	c.1831G>T	NM_003266.3	NP_003257.1:p.(Val611Phe)	NC_000009.11:g.120476357G>T	VUS	1 lab	acbd088467
6:170169688 ERMARD A>G	6	170169688	170169688	A	G	ERMARD	c.1112A>G	NM_018341.2	NP_060811.1:p.(His371Arg)	NC_000006.11:g.170169688A>G	(Likely) benign	1 lab	acbe8f30e5
9:117808721 TNC C>G	9	117808721	117808721	C	G	TNC	c.5093G>C	NM_002160.3	NP_002151.2:p.(Arg1698Pro)	NC_000009.11:g.117808721C>G	(Likely) benign	1 lab	acbeafdcf7
5:94839528 SKIC3 C>G	5	94839528	94839528	C	G	SKIC3	c.3207G>C	NM_014639.3	NP_055454.1:p.(Glu1069Asp)	NC_000005.9:g.94839528C>G	(Likely) benign	1 lab	acbf81da1c
3:193332716 OPA1 A>G	3	193332716	193332716	A	G	OPA1	c.237A>G	NM_130837.2	NP_570850.2:p.(Lys79=)	NC_000003.11:g.193332716A>G	(Likely) benign	1 lab	acc13e63ef
18:43535122 EPG5 A>G	18	43535122	43535122	A	G	EPG5	c.246T>C	NM_020964.3	NP_066015.2:p.(Asp82=)	NC_000018.9:g.43535122A>G	(Likely) benign	1 lab	acc27e4d19
X:153050856 SRPK3 G>A	X	153050856	153050856	G	A	SRPK3	c.1585G>A	NM_014370.3	NP_055185.2:p.(Glu529Lys)	NC_000023.10:g.153050856G>A	VUS	1 lab	acc44456b1
1:197073318 ASPM G>A	1	197073318	197073318	G	A	ASPM	c.5063C>T	NM_018136.4	NP_060606.3:p.(Thr1688Ile)	NC_000001.10:g.197073318G>A	(Likely) benign	1 lab	acc503c07e
1:97981280 DPYD A>G	1	97981280	97981280	A	G	DPYD	c.1740+2T>C	NM_000110.3	NP_000101.2:p.?	NC_000001.10:g.97981280A>G	(Likely) pathogenic	1 lab	acc641cb47
9:130438188 STXBP1 C>T	9	130438188	130438188	C	T	STXBP1	c.1216C>T	NM_003165.3	NP_003156.1:p.(Arg406Cys)	NC_000009.11:g.130438188C>T	(Likely) pathogenic	1 lab	acc66fecc4
10:135084512 ADAM8 A>C	10	135084512	135084512	A	C	ADAM8	c.1437T>G	NM_001109.5	NP_001100.3:p.(Cys479Trp)	NC_000010.10:g.135084512A>C	VUS	1 lab	acc7698655
13:35923326 NBEA G>A	13	35923326	35923326	G	A	NBEA	c.5985G>A	NM_015678.4	NP_056493.3:p.(Glu1995=)	NC_000013.10:g.35923326G>A	(Likely) benign	1 lab	acc870428f
19:13419249 CACNA1A G>A	19	13419249	13419249	G	A	CACNA1A	c.1765C>T	NM_023035.2	NP_075461.2:p.(Arg589Cys)	NC_000019.9:g.13419249G>A	(Likely) pathogenic	1 lab	acc8f3762b
2:32475850 NLRC4 C>T	2	32475850	32475850	C	T	NLRC4	c.1083G>A	NM_021209.4	NP_067032.3:p.(Thr361=)	NC_000002.11:g.32475850C>T	(Likely) benign	1 lab	acc91d930b
X:48925026 CCDC120 G>T	X	48925026	48925026	G	T	CCDC120				NC_000023.10:g.48925026G>T	VUS	1 lab	accc6b08ff
4:103184331 SLC39A8 A>G	4	103184331	103184331	A	G	SLC39A8	c.1253T>C	NM_001135147.1	NP_001128619.1:p.(Met418Thr)	NC_000004.11:g.103184331A>G	(Likely) benign	1 lab	acce485bbd
X:114141586 HTR2C A>G	X	114141586	114141586	A	G	HTR2C	c.985A>G	NM_001256760.2	NP_001243689.1:p.(Ile329Val)	NC_000023.10:g.114141586A>G	VUS	1 lab	acd08171b2
1:40148294 HPCAL4 C>T	1	40148294	40148294	C	T	HPCAL4	c.490G>A	NM_016257.4	NP_057341.1:p.(Asp164Asn)	NC_000001.10:g.40148294C>T	(Likely) benign	1 lab	acd0fc152f
17:1560055 PRPF8 A>G	17	1560055	1560055	A	G	PRPF8	c.5506T>C	NM_006445.3	NP_006436.3:p.(Leu1836=)	NC_000017.10:g.1560055A>G	(Likely) benign	1 lab	acd23bb8f8
11:6413014 SMPD1 G>A	11	6413014	6413014	G	A	SMPD1	c.719G>A	NM_001318087.1	NP_001305016.1:p.(Arg240Gln)	NC_000011.9:g.6413014G>A	(Likely) benign	1 lab	acd3306ed8
1:9305248 H6PD C>T	1	9305248	9305248	C	T	H6PD	c.255C>T	NM_004285.3	NP_004276.2:p.(Ser85=)	NC_000001.10:g.9305248C>T	(Likely) benign	1 lab	acd3c65969
2:179600603 TTN A>C	2	179600603	179600603	A	C	TTN	c.14570T>G	NM_001267550.1	NP_001254479.1:p.(Leu4857Arg)	NC_000002.11:g.179600603A>C	VUS	1 lab	acd3e99ba4
15:72639016 HEXA C>G	15	72639016	72639016	C	G	HEXA	c.1215G>C	NM_001318825.1	NP_001305754.1:p.(Glu405Asp)	NC_000015.9:g.72639016C>G	(Likely) benign	1 lab	acd7f3e047
19:54631674 PRPF31 C>A	19	54631674	54631674	C	A	PRPF31	c.1074-6C>A	NM_015629.3	NP_056444.3:p.?	NC_000019.9:g.54631674C>A	(Likely) benign	1 lab	acd912d50b
18:55230127 FECH G>A	18	55230127	55230127	G	A	FECH				NC_000018.9:g.55230127G>A	(Likely) benign	1 lab	acd99c07b4
3:69813020 MITF G>C	3	69813020	69813020	G	C	MITF	c.28G>C	NM_006722.2	NP_006713.1:p.(Val10Leu)	NC_000003.11:g.69813020G>C	VUS	1 lab	acdb5b53b6
7:73456936 ELN C>T	7	73456936	73456936	C	T	ELN	c.233-8C>T	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73456936C>T	(Likely) benign	1 lab	acdd49e417
7:21775443 DNAH11 G>T	7	21775443	21775443	G	T	DNAH11				NC_000007.13:g.21775443G>T	(Likely) benign	1 lab	acdd4d8f6b
9:79954505 VPS13A C>T	9	79954505	79954505	C	T	VPS13A	c.6452C>T	NM_033305.2	NP_150648.2:p.(Ala2151Val)	NC_000009.11:g.79954505C>T	(Likely) benign	1 lab	acdfd4b1d1
X:68058597 EFNB1 G>A	X	68058597	68058597	G	A	EFNB1	c.266G>A	NM_004429.4	NP_004420.1:p.(Cys89Tyr)	NC_000023.10:g.68058597G>A	(Likely) pathogenic	1 lab	ace0b4f469
16:57161788 CPNE2 C>T	16	57161788	57161788	C	T	CPNE2	c.1089C>T	NM_152727.6	NP_689940.3:p.(Phe363=)	NC_000016.9:g.57161788C>T	(Likely) benign	1 lab	ace0c169d9
9:139277881 SNAPC4 G>A	9	139277881	139277881	G	A	SNAPC4	c.1740C>T	NM_003086.3	NP_003077.2:p.(Ser580=)	NC_000009.11:g.139277881G>A	(Likely) benign	1 lab	ace411b684
1:150528627 ADAMTSL4 ACTCT>A	1	150528627	150528634	ACTCT	A	ADAMTSL4	c.1372-7_1372-4del	NM_019032.6	NP_061905.2:p.?	NC_000001.10:g.150528631_150528634del	VUS	1 lab	ace4ad82ba
X:135429074 ADGRG4 C>A	X	135429074	135429074	C	A	ADGRG4	c.3209C>A	NM_153834.3	NP_722576.3:p.(Thr1070Asn)	NC_000023.10:g.135429074C>A	VUS	1 lab	ace5bbce78
X:130419806 IGSF1 C>T	X	130419806	130419806	C	T	IGSF1	c.314G>A	NM_001170961.1	NP_001164432.1:p.(Arg105Gln)	NC_000023.10:g.130419806C>T	(Likely) benign	1 lab	ace97e434e
16:2126490 TSC2 A>G	16	2126490	2126490	A	G	TSC2	c.2743-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126490A>G	(Likely) pathogenic	1 lab	acea1a219a
14:21992359 SALL2 C>T	14	21992359	21992359	C	T	SALL2	c.1503G>A	NM_005407.2	NP_005398.2:p.(Thr501=)	NC_000014.8:g.21992359C>T	(Likely) benign	1 lab	aceab6c410
X:153229639 HCFC1 T>C	X	153229639	153229639	T	C	HCFC1	c.439A>G	NM_005334.2	NP_005325.2:p.(Asn147Asp)	NC_000023.10:g.153229639T>C	VUS	1 lab	acec46769d
17:78078692 GAA T>G	17	78078692	78078692	T	G	GAA	c.307T>G	NM_000152.3	NP_000143.2:p.(Cys103Gly)	NC_000017.10:g.78078692T>G	(Likely) pathogenic	1 lab	acecc01e4b
5:40979844 C7 G>C	5	40979844	40979844	G	C	C7	c.2183G>C	NM_000587.2	NP_000578.2:p.(Cys728Ser)	NC_000005.9:g.40979844G>C	VUS	1 lab	aced5b945d
4:36296567 DTHD1 C>G	4	36296567	36296567	C	G	DTHD1	c.1174C>G	NM_001170700.2	NP_001164171.1:p.(Pro392Ala)	NC_000004.11:g.36296567C>G	VUS	1 lab	acef46b480
X:134655227 INTS6L C>T	X	134655227	134655227	C	T	INTS6L	c.173C>T	NM_182540.5	NP_872346.3:p.(Pro58Leu)	NC_000023.10:g.134655227C>T	(Likely) benign	1 lab	acf2efad17
13:78472407 EDNRB C>T	13	78472407	78472407	C	T	EDNRB	c.1527G>A	NM_001201397.1	NP_001188326.1:p.(Ser509=)	NC_000013.10:g.78472407C>T	(Likely) benign	1 lab	acf4c467f6
7:141705413 MGAM T>C	7	141705413	141705413	T	C	MGAM	c.83T>C	NM_004668.2	NP_004659.2:p.(Ile28Thr)	NC_000007.13:g.141705413T>C	(Likely) benign	1 lab	acf6078b0a
17:1631748 WDR81 AGAG>A	17	1631748	1631761	AGAG	A	WDR81	c.3506_3508del	NM_001163809.2	NP_001157281.1:p.(Glu1169del)	NC_000017.10:g.1631759_1631761del	VUS	1 lab	acf60ebcfc
5:127863575 FBN2 A>G	5	127863575	127863575	A	G	FBN2	c.522T>C	NM_001999.3	NP_001990.2:p.(Tyr174=)	NC_000005.9:g.127863575A>G	(Likely) benign	1 lab	acf6b8e23b
1:156146689 SEMA4A G>A	1	156146689	156146689	G	A	SEMA4A	c.2187G>A	NM_022367.4	NP_071762.2:p.(Pro729=)	NC_000001.10:g.156146689G>A	(Likely) benign	1 lab	acf6c55f95
5:90119253 ADGRV1 A>T	5	90119253	90119253	A	T	ADGRV1	c.16208A>T	NM_032119.4	NP_115495.3:p.(Asp5403Val)	NC_000005.9:g.90119253A>T	VUS	1 lab	acf8c31ce6
15:89861822 POLG C>G	15	89861822	89861822	C	G	POLG	c.3432G>C	NM_002693.2	NP_002684.1:p.(Glu1144Asp)	NC_000015.9:g.89861822C>G	VUS	1 lab	acf8cbf2ae
6:73843182 KCNQ5 G>T	6	73843182	73843182	G	T	KCNQ5	c.1343G>T	NM_001160133.1	NP_001153605.1:p.(Ser448Ile)	NC_000006.11:g.73843182G>T	VUS	1 lab	acf9a95b9d
3:128200659 GATA2 C>G	3	128200659	128200659	C	G	GATA2	c.1143+3G>C	NM_001145661.1	NP_001139133.1:p.?	NC_000003.11:g.128200659C>G	(Likely) benign	1 lab	acfbeec06b
9:79936123 VPS13A T>C	9	79936123	79936123	T	C	VPS13A	c.5454T>C	NM_033305.2	NP_150648.2:p.(Asp1818=)	NC_000009.11:g.79936123T>C	(Likely) benign	1 lab	acfbfe152e
9:135772159 TSC1 A>G	9	135772159	135772159	A	G	TSC1	c.2976-18T>C	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135772159A>G	(Likely) benign	1 lab	acff39bfe1
2:231042802 SP110 C>T	2	231042802	231042802	C	T	SP110	c.1447+71G>A	NM_080424.2	NP_536349.2:p.?	NC_000002.11:g.231042802C>T	(Likely) benign	1 lab	ad005e3d58
13:113212589 TUBGCP3 C>T	13	113212589	113212589	C	T	TUBGCP3	c.439G>A	NM_001286277.1	NP_001273206.1:p.(Val147Met)	NC_000013.10:g.113212589C>T	(Likely) benign	1 lab	ad0075a67b
16:16219688 ABCC1 C>G	16	16219688	16219688	C	G	ABCC1	c.3739C>G	NM_004996.3	NP_004987.2:p.(Leu1247Val)	NC_000016.9:g.16219688C>G	VUS	1 lab	ad01f958e8
9:130954185 CIZ1 G>A	9	130954185	130954185	G	A	CIZ1	c.34C>T	NM_001257975.1	NP_001244904.1:p.(Arg12Cys)	NC_000009.11:g.130954185G>A	VUS	1 lab	ad029d8961
1:7724979 CAMTA1 A>G	1	7724979	7724979	A	G	CAMTA1	c.2372A>G	NM_015215.3	NP_056030.1:p.(Tyr791Cys)	NC_000001.10:g.7724979A>G	VUS	1 lab	ad0382f8e4
10:102770434 PDZD7 G>A	10	102770434	102770434	G	A	PDZD7	c.2212C>T	NM_001195263.1	NP_001182192.1:p.(Leu738=)	NC_000010.10:g.102770434G>A	(Likely) benign	1 lab	ad04dc51c9
19:4548429 SEMA6B C>T	19	4548429	4548429	C	T	SEMA6B	c.1300G>A	NM_032108.4	NP_115484.2:p.(Val434Met)	NC_000019.9:g.4548429C>T	(Likely) benign	1 lab	ad04fdf471
16:21702943 OTOA C>G	16	21702943	21702943	C	G	OTOA	c.674C>G	NM_144672.4	NP_653273.3:p.(Ala225Gly)	NC_000016.9:g.21702943C>G	VUS	1 lab	ad0560999c
X:16170613 GRPR A>G	X	16170613	16170613	A	G	GRPR	c.1000A>G	NM_005314.2	NP_005305.1:p.(Asn334Asp)	NC_000023.10:g.16170613A>G	VUS	1 lab	ad068e289e
7:147926834 CNTNAP2 T>C	7	147926834	147926834	T	C	CNTNAP2	c.3344T>C	NM_014141.5	NP_054860.1:p.(Val1115Ala)	NC_000007.13:g.147926834T>C	VUS	1 lab	ad099815b5
19:18893863 COMP C>G	19	18893863	18893863	C	G	COMP	c.2227+1G>C	NM_000095.2	NP_000086.2:p.?	NC_000019.9:g.18893863C>G	(Likely) pathogenic	1 lab	ad0a65c42f
15:23892386 MAGEL2 C>T	15	23892386	23892386	C	T	MAGEL2	c.504G>A	NM_019066.4	NP_061939.3:p.(Pro168=)	NC_000015.9:g.23892386C>T	(Likely) benign	1 lab	ad0ad6dd96
4:435883 ZNF721 C>T	4	435883	435883	C	T	ZNF721	c.2373G>A	NM_133474.4	NP_597731.2:p.(Thr791=)	NC_000004.11:g.435883C>T	(Likely) benign	1 lab	ad0b37d04c
2:186665617 FSIP2 G>T	2	186665617	186665617	G	T	FSIP2	c.11584G>T	NM_173651.3	NP_775922.3:p.(Ala3862Ser)	NC_000002.11:g.186665617G>T	(Likely) benign	1 lab	ad0d4caa9b
6:74325158 SLC17A5 A>AT	6	74325158	74325159	A	AT	SLC17A5	c.990dup	NM_012434.4	NP_036566.1:p.(Ser331IlefsTer20)	NC_000006.11:g.74325159dup	(Likely) pathogenic	1 lab	ad0d5a3349
2:217293422 SMARCAL1 G>A	2	217293422	217293422	G	A	SMARCAL1	c.1251G>A	NM_014140.3	NP_054859.2:p.(Thr417=)	NC_000002.11:g.217293422G>A	(Likely) benign	1 lab	ad0ddd8152
1:57347272 C8A C>T	1	57347272	57347272	C	T	C8A	c.619C>T	NM_000562.2	NP_000553.1:p.(Arg207Trp)	NC_000001.10:g.57347272C>T	VUS	1 lab	ad10bf7bb7
8:126095409 WASHC5 G>A	8	126095409	126095409	G	A	WASHC5	c.278C>T	NM_014846.3	NP_055661.3:p.(Thr93Ile)	NC_000008.10:g.126095409G>A	VUS	1 lab	ad10dd03ea
9:79834980 VPS13A G>A	9	79834980	79834980	G	A	VPS13A	c.865G>A	NM_033305.2	NP_150648.2:p.(Glu289Lys)	NC_000009.11:g.79834980G>A	VUS	1 lab	ad167a0901
1:226570767 PARP1 G>A	1	226570767	226570767	G	A	PARP1	c.1129C>T	NM_001618.4	NP_001609.2:p.(Pro377Ser)	NC_000001.10:g.226570767G>A	(Likely) benign	1 lab	ad19c60bb5
17:63221370 RGS9 T>C	17	63221370	63221370	T	C	RGS9	c.1658T>C	NM_003835.3	NP_003826.2:p.(Val553Ala)	NC_000017.10:g.63221370T>C	VUS	1 lab	ad1a22384e
19:40521217 ZNF546 T>TA	19	40521217	40521218	T	TA	ZNF546	c.2041dup	NM_178544.5	NP_848639.2:p.(Thr681AsnfsTer10)	NC_000019.9:g.40521218dup	VUS	1 lab	ad1a952d61
16:71103210 HYDIN T>A	16	71103210	71103210	T	A	HYDIN	c.1934A>T	NM_001270974.2	NP_001257903.1:p.(Asp645Val)	NC_000016.9:g.71103210T>A	(Likely) benign	1 lab	ad1c7838aa
X:129289132 AIFM1 T>C	X	129289132	129289132	T	C	AIFM1	c.236A>G	NM_145812.2	NP_665811.1:p.(Tyr79Cys)	NC_000023.10:g.129289132T>C	VUS	1 lab	ad1d6d3956
6:112441479 LAMA4 A>G	6	112441479	112441479	A	G	LAMA4	c.4665+7T>C	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112441479A>G	(Likely) benign	1 lab	ad1df83a50
5:179248034 SQSTM1 C>T	5	179248034	179248034	C	T	SQSTM1	c.98C>T	NM_003900.5	NP_003891.1:p.(Ala33Val)	NC_000005.9:g.179248034C>T	(Likely) benign	1 lab	ad1e349ce6
3:132201099 DNAJC13 G>A	3	132201099	132201099	G	A	DNAJC13	c.2904G>A	NM_015268.4	NP_056083.3:p.(Met968Ile)	NC_000003.11:g.132201099G>A	VUS	1 lab	ad1e96a53b
X:117712504 DOCK11 C>T	X	117712504	117712504	C	T	DOCK11	c.1406C>T	NM_144658.3	NP_653259.3:p.(Thr469Met)	NC_000023.10:g.117712504C>T	VUS	1 lab	ad1ec91f30
5:179069987 SPATA31J1 G>A	5	179069987	179069987	G	A	SPATA31J1	c.566C>T	NM_001305388.1	NP_001292317.1:p.(Pro189Leu)	NC_000005.9:g.179069987G>A	(Likely) benign	1 lab	ad1fbd558c
15:30854409 GOLGA8Q C>T	15	30854409	30854409	C	T	GOLGA8Q	c.1689C>T	NM_001355476.1	NP_001342405.1:p.(Ala563=)	NC_000015.9:g.30854409C>T	(Likely) benign	1 lab	ad1ffff2d1
X:123525995 TENM1 C>T	X	123525995	123525995	C	T	TENM1	c.5595G>A	NM_001163278.1	NP_001156750.1:p.(Thr1865=)	NC_000023.10:g.123525995C>T	(Likely) benign	1 lab	ad21563973
6:33135615 COL11A2 C>G	6	33135615	33135615	C	G	COL11A2	c.3975G>C	NM_080680.2	NP_542411.2:p.(Ser1325=)	NC_000006.11:g.33135615C>G	(Likely) benign	1 lab	ad21c98fbf
4:88733030 IBSP T>C	4	88733030	88733030	T	C	IBSP	c.922T>C	NM_004967.4	NP_004958.2:p.(Tyr308His)	NC_000004.11:g.88733030T>C	VUS	1 lab	ad22dfa289
8:145738842 RECQL4 G>A	8	145738842	145738842	G	A	RECQL4	c.2223C>T	NM_004260.3	NP_004251.3:p.(Ala741=)	NC_000008.10:g.145738842G>A	(Likely) benign	1 lab	ad2444de6d
7:96639329 DLX6 G>C	7	96639329	96639329	G	C	DLX6	c.852G>C	NM_005222.4	NP_005213.3:p.(Gln284His)	NC_000007.13:g.96639329G>C	VUS	1 lab	ad24d9d980
16:27765487 KATNIP T>C	16	27765487	27765487	T	C	KATNIP	c.3553-7T>C	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27765487T>C	(Likely) benign	1 lab	ad25809c33
19:13397486 CACNA1A C>T	19	13397486	13397486	C	T	CACNA1A	c.3396G>A	NM_023035.2	NP_075461.2:p.(Pro1132=)	NC_000019.9:g.13397486C>T	(Likely) benign	1 lab	ad267a47fb
16:624503 PIGQ G>A	16	624503	624503	G	A	PIGQ	c.429G>A	NM_004204.3	NP_004195.2:p.(Leu143=)	NC_000016.9:g.624503G>A	(Likely) benign	1 lab	ad27f0089a
6:135774514 AHI1 A>G	6	135774514	135774514	A	G	AHI1	c.1405T>C	NM_001134831.1	NP_001128303.1:p.(Cys469Arg)	NC_000006.11:g.135774514A>G	(Likely) benign	1 lab	ad28994898
17:36492941 GPR179 C>T	17	36492941	36492941	C	T	GPR179	c.1147G>A	NM_001004334.3	NP_001004334.3:p.(Ala383Thr)	NC_000017.10:g.36492941C>T	VUS	1 lab	ad290da3f3
12:49415578 KMT2D C>T	12	49415578	49415578	C	T	KMT2D	c.16599G>A	NM_003482.3	NP_003473.3:p.(Arg5533=)	NC_000012.11:g.49415578C>T	(Likely) benign	1 lab	ad2950868b
7:80303453 CD36 CAATAA>C	7	80303453	80303463	CAATAA	C	CD36	c.1415_1419del	NM_001001548.3	NP_001001548.1:p.(Lys472AsnfsTer80)	NC_000007.13:g.80303459_80303463del	(Likely) pathogenic	1 lab	ad2c2ff1e6
16:87678516 JPH3 C>T	16	87678516	87678516	C	T	JPH3	c.1035C>T	NM_020655.3	NP_065706.2:p.(Gly345=)	NC_000016.9:g.87678516C>T	(Likely) benign	1 lab	ad2c9cf57a
11:103327055 DYNC2H1 C>T	11	103327055	103327055	C	T	DYNC2H1	c.12640C>T	NM_001080463.1	NP_001073932.1:p.(Arg4214Ter)	NC_000011.9:g.103327055C>T	(Likely) pathogenic	1 lab	ad2ca68b6f
5:11346714 CTNND2 G>C	5	11346714	11346714	G	C	CTNND2	c.1398C>G	NM_001332.3	NP_001323.1:p.(Ser466=)	NC_000005.9:g.11346714G>C	(Likely) benign	1 lab	ad2e058748
12:31562249 DENND5B A>C	12	31562249	31562249	A	C	DENND5B	c.2856T>G	NM_001308339.1	NP_001295268.1:p.(Leu952=)	NC_000012.11:g.31562249A>C	(Likely) benign	1 lab	ad2ee7b1d5
3:126224648 UROC1 C>G	3	126224648	126224648	C	G	UROC1	c.709G>C	NM_001165974.1	NP_001159446.1:p.(Glu237Gln)	NC_000003.11:g.126224648C>G	(Likely) benign	1 lab	ad2fa9adca
10:30625903 MTPAP G>A	10	30625903	30625903	G	A	MTPAP	c.609C>T	NM_018109.3	NP_060579.3:p.(Asn203=)	NC_000010.10:g.30625903G>A	(Likely) benign	1 lab	ad2fc86d46
X:34148331 FAM47A G>C	X	34148331	34148331	G	C	FAM47A	c.2065C>G	NM_203408.3	NP_981953.2:p.(Gln689Glu)	NC_000023.10:g.34148331G>C	(Likely) benign	1 lab	ad2fc9afee
16:88801466 PIEZO1 G>GT	16	88801466	88801467	G	GT	PIEZO1	c.1670-6_1670-5insA	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88801466_88801467insT	VUS	1 lab	ad30a489fc
6:28971317 ZNF311 G>A	6	28971317	28971317	G	A	ZNF311	c.64C>T	NM_001010877.3	NP_001010877.2:p.(Gln22Ter)	NC_000006.11:g.28971317G>A	VUS	1 lab	ad3168c521
20:420894 TBC1D20 C>T	20	420894	420894	C	T	TBC1D20	c.766G>A	NM_144628.3	NP_653229.1:p.(Val256Met)	NC_000020.10:g.420894C>T	VUS	1 lab	ad3423a79f
5:94805595 SKIC3 T>C	5	94805595	94805595	T	C	SKIC3	c.4385A>G	NM_014639.3	NP_055454.1:p.(His1462Arg)	NC_000005.9:g.94805595T>C	(Likely) benign	1 lab	ad34635176
18:77477834 CTDP1 C>T	18	77477834	77477834	C	T	CTDP1	c.2235C>T	NM_004715.4	NP_004706.3:p.(Pro745=)	NC_000018.9:g.77477834C>T	(Likely) benign	1 lab	ad36b5e46f
18:21484568 LAMA3 C>T	18	21484568	21484568	C	T	LAMA3	c.6525C>T	NM_198129.2	NP_937762.2:p.(Ala2175=)	NC_000018.9:g.21484568C>T	(Likely) benign	1 lab	ad37f98127
1:12009905 PLOD1 A>T	1	12009905	12009905	A	T	PLOD1	c.244A>T	NM_000302.3	NP_000293.2:p.(Lys82Ter)	NC_000001.10:g.12009905A>T	(Likely) pathogenic	1 lab	ad3a425317
16:3778672 CREBBP C>G	16	3778672	3778672	C	G	CREBBP	c.6376G>C	NM_004380.2	NP_004371.2:p.(Gly2126Arg)	NC_000016.9:g.3778672C>G	(Likely) benign	1 lab	ad3aeec45d
17:76446842 DNAH17 C>T	17	76446842	76446842	C	T	DNAH17	c.10821G>A	NM_173628.3	NP_775899.3:p.(Ser3607=)	NC_000017.10:g.76446842C>T	(Likely) benign	1 lab	ad3b8e36db
19:21132936 ZNF85 CAT>C	19	21132936	21132938	CAT	C	ZNF85	c.1617_1618del	NM_003429.5	NP_003420.2:p.(Cys540Ter)	NC_000019.9:g.21132937_21132938del	VUS	1 lab	ad3e5ee339
14:21860737 CHD8 T>C	14	21860737	21860737	T	C	CHD8	c.6700A>G	NM_001170629.1	NP_001164100.1:p.(Thr2234Ala)	NC_000014.8:g.21860737T>C	(Likely) benign	1 lab	ad3fc441e4
17:41063416 G6PC G>T	17	41063416	41063416	G	T	G6PC				NC_000017.10:g.41063416G>T	(Likely) benign	1 lab	ad3fdf5c65
21:47848382 PCNT C>T	21	47848382	47848382	C	T	PCNT	c.7568C>T	NM_006031.5	NP_006022.3:p.(Ala2523Val)	NC_000021.8:g.47848382C>T	(Likely) benign	1 lab	ad40ab12fb
19:33882219 PEPD G>A	19	33882219	33882219	G	A	PEPD	c.1134C>T	NM_000285.3	NP_000276.2:p.(Asp378=)	NC_000019.9:g.33882219G>A	(Likely) benign	1 lab	ad40ffa94c
X:70602962 TAF1 C>T	X	70602962	70602962	C	T	TAF1	c.1955C>T	NM_001286074.1	NP_001273003.1:p.(Pro652Leu)	NC_000023.10:g.70602962C>T	(Likely) benign	1 lab	ad425e6f69
11:103130659 DYNC2H1 T>C	11	103130659	103130659	T	C	DYNC2H1	c.10669T>C	NM_001080463.1	NP_001073932.1:p.(Ser3557Pro)	NC_000011.9:g.103130659T>C	VUS	1 lab	ad4512a2eb
18:47352999 MYO5B G>A	18	47352999	47352999	G	A	MYO5B	c.5395-6C>T	NM_001080467.2	NP_001073936.1:p.?	NC_000018.9:g.47352999G>A	(Likely) benign	1 lab	ad458493b7
11:76888655 MYO7A C>T	11	76888655	76888655	C	T	MYO7A	c.2248C>T	NM_000260.3	NP_000251.3:p.(Leu750Phe)	NC_000011.9:g.76888655C>T	VUS	1 lab	ad458b86f1
17:26874705 UNC119 G>A	17	26874705	26874705	G	A	UNC119	c.600C>T	NM_054035.2	NP_473376.1:p.(Ser200=)	NC_000017.10:g.26874705G>A	(Likely) benign	1 lab	ad4796319f
16:22155669 VWA3A C>T	16	22155669	22155669	C	T	VWA3A	c.2694C>T	NM_173615.4	NP_775886.3:p.(Ala898=)	NC_000016.9:g.22155669C>T	(Likely) benign	1 lab	ad47aac0c6
11:134023263 NCAPD3 A>T	11	134023263	134023263	A	T	NCAPD3	c.4253-5T>A	NM_015261.2	NP_056076.1:p.?	NC_000011.9:g.134023263A>T	VUS	1 lab	ad48622b82
7:150878038 ASB10 C>A	7	150878038	150878038	C	A	ASB10	c.1092G>T	NM_001142460.1	NP_001135932.2:p.(Gly364=)	NC_000007.13:g.150878038C>A	(Likely) benign	1 lab	ad49853700
9:139311437 PMPCA G>A	9	139311437	139311437	G	A	PMPCA	c.668G>A	NM_015160.2	NP_055975.1:p.(Arg223His)	NC_000009.11:g.139311437G>A	VUS	1 lab	ad499f7749
18:77748859 TXNL4A G>C	18	77748859	77748859	G	C	TXNL4A				NC_000018.9:g.77748859G>C	(Likely) benign	1 lab	ad49bc44ef
8:145741473 RECQL4 G>A	8	145741473	145741473	G	A	RECQL4	c.1030C>T	NM_004260.3	NP_004251.3:p.(Arg344Trp)	NC_000008.10:g.145741473G>A	VUS	1 lab	ad4b6ea9bc
17:29685586 NF1 AGT>A	17	29685586	29685591	AGT	A	NF1	c.8063_8064del	NM_001042492.3	NP_001035957.1:p.(Val2688GlyfsTer4)	NC_000017.10:g.29685590_29685591del	(Likely) pathogenic	1 lab	ad4ba0c928
19:35790480 MAG C>G	19	35790480	35790480	C	G	MAG	c.439C>G	NM_080600.2	NP_542167.1:p.(Pro147Ala)	NC_000019.9:g.35790480C>G	(Likely) benign	1 lab	ad4d9db56d
22:21343992 LZTR1 GGGCGCA>G	22	21343992	21344000	GGGCGCA	G	LZTR1	c.651+24_651+29del	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21343995_21344000del	(Likely) benign	1 lab	ad4daebb60
4:88535824 DSPP C>T	4	88535824	88535824	C	T	DSPP	c.2010C>T	NM_014208.3	NP_055023.2:p.(Asp670=)	NC_000004.11:g.88535824C>T	(Likely) benign	1 lab	ad4e03ae0b
6:65336040 EYS T>C	6	65336040	65336040	T	C	EYS	c.3542A>G	NM_001292009.1	NP_001278938.1:p.(Asn1181Ser)	NC_000006.11:g.65336040T>C	(Likely) benign	1 lab	ad4e4db4a1
7:103159880 RELN C>T	7	103159880	103159880	C	T	RELN	c.7752G>A	NM_005045.3	NP_005036.2:p.(Leu2584=)	NC_000007.13:g.103159880C>T	(Likely) benign	1 lab	ad4e81dd3b
X:54949672 TRO G>A	X	54949672	54949672	G	A	TRO	c.707G>A	NM_001039705.2	NP_001034794.1:p.(Gly236Asp)	NC_000023.10:g.54949672G>A	(Likely) benign	1 lab	ad4f4e1a28
15:51792016 DMXL2 A>G	15	51792016	51792016	A	G	DMXL2	c.3405T>C	NM_001174116.1	NP_001167587.1:p.(Leu1135=)	NC_000015.9:g.51792016A>G	(Likely) benign	1 lab	ad4f6290b9
8:43014173 HGSNAT T>C	8	43014173	43014173	T	C	HGSNAT	c.479T>C	NM_152419.2	NP_689632.2:p.(Val160Ala)	NC_000008.10:g.43014173T>C	(Likely) benign	1 lab	ad5131425b
14:21993374 SALL2 G>C	14	21993374	21993374	G	C	SALL2	c.488C>G	NM_005407.2	NP_005398.2:p.(Pro163Arg)	NC_000014.8:g.21993374G>C	VUS	1 lab	ad534a60e4
16:2158575 PKD1 G>A	16	2158575	2158575	G	A	PKD1	c.6593C>T	NM_001009944.2	NP_001009944.2:p.(Pro2198Leu)	NC_000016.9:g.2158575G>A	(Likely) benign	1 lab	ad576b940e
3:15683469 BTD A>G	3	15683469	15683469	A	G	BTD	c.364A>G	NM_000060.4	NP_000051.1:p.(Arg122Gly)	NC_000003.11:g.15683469A>G	(Likely) pathogenic	1 lab	ad578be316
10:126089559 OAT T>C	10	126089559	126089559	T	C	OAT	c.1015-6A>G	NM_001322966.1	NP_001309895.1:p.?	NC_000010.10:g.126089559T>C	VUS	1 lab	ad5846e499
X:14863140 FANCB T>C	X	14863140	14863140	T	C	FANCB	c.1765A>G	NM_001018113.1	NP_001018123.1:p.(Thr589Ala)	NC_000023.10:g.14863140T>C	VUS	1 lab	ad5d281403
7:107315385 SLC26A4 C>T	7	107315385	107315385	C	T	SLC26A4	c.601-5C>T	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107315385C>T	(Likely) benign	1 lab	ad5e898e84
13:25457372 CPAP G>A	13	25457372	25457372	G	A	CPAP	c.3960C>T	NM_018451.4	NP_060921.3:p.(Ser1320=)	NC_000013.10:g.25457372G>A	(Likely) benign	1 lab	ad60018d4a
13:103279474 TPP2 A>G	13	103279474	103279474	A	G	TPP2	c.897A>G	NM_001367947.1	NP_001354876.1:p.(Thr299=)	NC_000013.10:g.103279474A>G	(Likely) benign	1 lab	ad6005eb2b
2:220432994 OBSL1 G>A	2	220432994	220432994	G	A	OBSL1	c.1065C>T	NM_015311.2	NP_056126.1:p.(His355=)	NC_000002.11:g.220432994G>A	(Likely) benign	1 lab	ad61f3bea5
17:19290122 MFAP4 A>AAGC	17	19290122	19290134	A	AAGC	MFAP4	c.105_107dup	NM_001198695.1	NP_001185624.1:p.(Leu37dup)	NC_000017.10:g.19290132_19290134dup	(Likely) benign	1 lab	ad62cece36
13:23929714 SACS G>A	13	23929714	23929714	G	A	SACS	c.1037C>T	NM_014363.5	NP_055178.3:p.(Pro346Leu)	NC_000013.10:g.23929714G>A	VUS	1 lab	ad6305ab36
2:26696416 OTOF C>T	2	26696416	26696416	C	T	OTOF	c.3428G>A	NM_194248.2	NP_919224.1:p.(Arg1143Gln)	NC_000002.11:g.26696416C>T	VUS	1 lab	ad6449bc4f
5:169535303 FOXI1 C>T	5	169535303	169535303	C	T	FOXI1	c.825C>T	NM_012188.4	NP_036320.2:p.(Ala275=)	NC_000005.9:g.169535303C>T	(Likely) benign	1 lab	ad6672cb0b
X:32841475 DMD G>A	X	32841475	32841475	G	A	DMD	c.270C>T	NM_000109.3	NP_000100.2:p.(Asp90=)	NC_000023.10:g.32841475G>A	(Likely) benign	1 lab	ad67057452
5:67588145 PIK3R1 T>A	5	67588145	67588145	T	A	PIK3R1	c.975T>A	NM_181523.2	NP_852664.1:p.(Asn325Lys)	NC_000005.9:g.67588145T>A	(Likely) benign	1 lab	ad6733f4b2
17:7749922 KDM6B G>C	17	7749922	7749922	G	C	KDM6B	c.575G>C	NM_001080424.2	NP_001073893.1:p.(Arg192Pro)	NC_000017.10:g.7749922G>C	VUS	1 lab	ad67572ce4
8:72246387 EYA1 G>A	8	72246387	72246387	G	A	EYA1	c.147C>T	NM_000503.5	NP_000494.2:p.(Ser49=)	NC_000008.10:g.72246387G>A	(Likely) benign	1 lab	ad67853c80
19:51169797 SHANK1 G>A	19	51169797	51169797	G	A	SHANK1	c.5420C>T	NM_016148.4	NP_057232.2:p.(Pro1807Leu)	NC_000019.9:g.51169797G>A	(Likely) benign	1 lab	ad68a92a02
17:29654716 NF1 C>CT	17	29654716	29654717	C	CT	NF1	c.5406dup	NM_000267.3	NP_000258.1:p.(Ile1803TyrfsTer38)	NC_000017.10:g.29654717dup	(Likely) pathogenic	1 lab	ad69b8d224
7:107605105 LAMB1 T>G	7	107605105	107605105	T	G	LAMB1	c.1590A>C	NM_002291.2	NP_002282.2:p.(Ser530=)	NC_000007.13:g.107605105T>G	(Likely) benign	1 lab	ad6a5aae67
16:70952281 HYDIN C>T	16	70952281	70952281	C	T	HYDIN	c.7837G>A	NM_001270974.2	NP_001257903.1:p.(Ala2613Thr)	NC_000016.9:g.70952281C>T	(Likely) benign	1 lab	ad6ac3f5c6
7:31887673 PDE1C G>A	7	31887673	31887673	G	A	PDE1C	c.1069C>T	NM_001322058.1	NP_001308987.1:p.(Leu357=)	NC_000007.13:g.31887673G>A	(Likely) benign	1 lab	ad6baa72fd
15:51204343 AP4E1 A>G	15	51204343	51204343	A	G	AP4E1	c.219A>G	NM_007347.4	NP_031373.2:p.(Thr73=)	NC_000015.9:g.51204343A>G	(Likely) benign	1 lab	ad6d40b856
5:90049615 ADGRV1 G>A	5	90049615	90049615	G	A	ADGRV1	c.11346G>A	NM_032119.4	NP_115495.3:p.(Ala3782=)	NC_000005.9:g.90049615G>A	(Likely) benign	1 lab	ad6df943f5
17:2573487 PAFAH1B1 C>T	17	2573487	2573487	C	T	PAFAH1B1	c.430C>T	NM_000430.3	NP_000421.1:p.(Arg144Ter)	NC_000017.10:g.2573487C>T	(Likely) pathogenic	1 lab	ad6e0dc7f2
18:45567084 ZBTB7C T>C	18	45567084	45567084	T	C	ZBTB7C	c.395A>G	NM_001318841.2	NP_001305770.1:p.(Asp132Gly)	NC_000018.9:g.45567084T>C	(Likely) benign	1 lab	ad6ee30b00
13:110829370 COL4A1 G>A	13	110829370	110829370	G	A	COL4A1	c.2731C>T	NM_001845.5	NP_001836.3:p.(Pro911Ser)	NC_000013.10:g.110829370G>A	VUS	1 lab	ad71051aac
X:150793993 PASD1 G>T	X	150793993	150793993	G	T	PASD1	c.620G>T	NM_173493.2	NP_775764.2:p.(Gly207Val)	NC_000023.10:g.150793993G>T	(Likely) benign	1 lab	ad71308567
7:80303298 CD36 G>A	7	80303298	80303298	G	A	CD36	c.1255-1G>A	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80303298G>A	(Likely) pathogenic	1 lab	ad7186a6a1
9:34506786 DNAI1 G>A	9	34506786	34506786	G	A	DNAI1	c.1237G>A	NM_001281428.1	NP_001268357.1:p.(Ala413Thr)	NC_000009.11:g.34506786G>A	VUS	1 lab	ad71d62668
X:36322019 CFAP47 C>G	X	36322019	36322019	C	G	CFAP47	c.8026C>G	NM_001304548.1	NP_001291477.1:p.(Gln2676Glu)	NC_000023.10:g.36322019C>G	VUS	1 lab	ad7234c82c
11:47364781 MYBPC3 C>T	11	47364781	47364781	C	T	MYBPC3	c.1226+30G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364781C>T	(Likely) benign	1 lab	ad73eb530d
12:42858289 PRICKLE1 C>G	12	42858289	42858289	C	G	PRICKLE1	c.1547G>C	NM_153026.2	NP_694571.2:p.(Trp516Ser)	NC_000012.11:g.42858289C>G	VUS	1 lab	ad7407c699
12:94243993 CRADD C>T	12	94243993	94243993	C	T	CRADD	c.546C>T	NM_001320099.1	NP_001307028.1:p.(Asn182=)	NC_000012.11:g.94243993C>T	(Likely) benign	1 lab	ad744eb6a2
12:88582702 TMTC3 G>A	12	88582702	88582702	G	A	TMTC3	c.1515G>A	NM_181783.3	NP_861448.2:p.(Met505Ile)	NC_000012.11:g.88582702G>A	(Likely) benign	1 lab	ad749962f9
12:116444155 MED13L T>C	12	116444155	116444155	T	C	MED13L	c.2300A>G	NM_015335.4	NP_056150.1:p.(Asp767Gly)	NC_000012.11:g.116444155T>C	VUS	1 lab	ad7515f9e1
6:152783946 SYNE1 T>C	6	152783946	152783946	T	C	SYNE1	c.2177A>G	NM_182961.3	NP_892006.3:p.(Glu726Gly)	NC_000006.11:g.152783946T>C	(Likely) benign	1 lab	ad78220390
18:43456241 EPG5 C>T	18	43456241	43456241	C	T	EPG5	c.6009G>A	NM_020964.3	NP_066015.2:p.(Leu2003=)	NC_000018.9:g.43456241C>T	(Likely) benign	1 lab	ad78bcfb6c
X:6975779 PUDP T>C	X	6975779	6975779	T	C	PUDP	c.596A>G	NM_001178135.1	NP_001171606.1:p.(Asn199Ser)	NC_000023.10:g.6975779T>C	(Likely) benign	1 lab	ad78f9116b
X:38664673 MID1IP1 C>G	X	38664673	38664673	C	G	MID1IP1	c.474C>G	NM_021242.5	NP_067065.1:p.(Leu158=)	NC_000023.10:g.38664673C>G	(Likely) benign	1 lab	ad795e3ad9
12:58131881 AGAP2 C>T	12	58131881	58131881	C	T	AGAP2	c.149G>A	NM_001122772.2	NP_001116244.1:p.(Gly50Glu)	NC_000012.11:g.58131881C>T	(Likely) benign	1 lab	ad79bd082d
9:135779812 TSC1 C>T	9	135779812	135779812	C	T	TSC1	c.2027G>A	NM_000368.4	NP_000359.1:p.(Trp676Ter)	NC_000009.11:g.135779812C>T	(Likely) pathogenic	1 lab	ad7ddbbf9e
11:44193165 EXT2 G>A	11	44193165	44193165	G	A	EXT2	c.1178G>A	NM_207122.1	NP_997005.1:p.(Arg393Gln)	NC_000011.9:g.44193165G>A	(Likely) benign	1 lab	ad7df2b342
X:114424813 RBMXL3 C>T	X	114424813	114424813	C	T	RBMXL3	c.809C>T	NM_001145346.1	NP_001138818.1:p.(Pro270Leu)	NC_000023.10:g.114424813C>T	(Likely) benign	1 lab	ad7e89d702
11:31823113 PAX6 G>T	11	31823113	31823113	G	T	PAX6	c.395C>A	NM_001310158.1	NP_001297087.1:p.(Pro132Gln)	NC_000011.9:g.31823113G>T	(Likely) pathogenic	1 lab	ad7ed7d95e
10:75258814 USP54 G>A	10	75258814	75258814	G	A	USP54	c.4337C>T	NM_001350995.1	NP_001337924.1:p.(Ala1446Val)	NC_000010.10:g.75258814G>A	(Likely) benign	1 lab	ad801b7f69
6:87943215 ZNF292 A>G	6	87943215	87943215	A	G	ZNF292	c.711A>G	NM_015021.2	NP_055836.1:p.(Thr237=)	NC_000006.11:g.87943215A>G	(Likely) benign	1 lab	ad80bb4fab
4:36292326 DTHD1 G>T	4	36292326	36292326	G	T	DTHD1	c.843+1G>T	NM_001170700.2	NP_001164171.1:p.?	NC_000004.11:g.36292326G>T	(Likely) pathogenic	1 lab	ad83f79d7a
12:39724649 KIF21A T>C	12	39724649	39724649	T	C	KIF21A	c.3218A>G	NM_001173464.1	NP_001166935.1:p.(Glu1073Gly)	NC_000012.11:g.39724649T>C	VUS	1 lab	ad84d6c03b
10:88441517 LDB3 A>T	10	88441517	88441517	A	T	LDB3	c.646A>T	NM_007078.2	NP_009009.1:p.(Met216Leu)	NC_000010.10:g.88441517A>T	(Likely) benign	1 lab	ad84ea4e33
2:239237349 TRAF3IP1 G>A	2	239237349	239237349	G	A	TRAF3IP1	c.377G>A	NM_015650.3	NP_056465.2:p.(Arg126Gln)	NC_000002.11:g.239237349G>A	(Likely) benign	1 lab	ad867920f4
4:996086 IDUA G>A	4	996086	996086	G	A	IDUA	c.606G>A	NM_001363576.1	NP_001350505.1:p.(Leu202=)	NC_000004.11:g.996086G>A	(Likely) benign	1 lab	ad877b9e30
16:2110671 TSC2 G>GC	16	2110671	2110673	G	GC	TSC2	c.978dup	NM_000548.3	NP_000539.2:p.(Met327HisfsTer11)	NC_000016.9:g.2110673dup	(Likely) pathogenic	1 lab	ad877e09ab
7:106851577 COG5 C>T	7	106851577	106851577	C	T	COG5	c.2355G>A	NM_001161520.1	NP_001154992.1:p.(Thr785=)	NC_000007.13:g.106851577C>T	(Likely) benign	1 lab	ad887341cd
17:27067914 NEK8 T>G	17	27067914	27067914	T	G	NEK8	c.1643T>G	NM_178170.3	NP_835464.1:p.(Leu548Arg)	NC_000017.10:g.27067914T>G	(Likely) benign	1 lab	ad887a50a8
3:47165738 SETD2 A>G	3	47165738	47165738	A	G	SETD2	c.388T>C	NM_014159.6	NP_054878.5:p.(Ser130Pro)	NC_000003.11:g.47165738A>G	(Likely) benign	1 lab	ad8ae339b4
19:51883862 LIM2 G>A	19	51883862	51883862	G	A	LIM2	c.483C>T	NM_030657.3	NP_085915.2:p.(Tyr161=)	NC_000019.9:g.51883862G>A	(Likely) benign	1 lab	ad8b5bddd5
8:7807621 ZNF705B G>A	8	7807621	7807621	G	A	ZNF705B	c.206G>A	NM_001193630.1	NP_001180559.1:p.(Gly69Glu)	NC_000008.10:g.7807621G>A	VUS	1 lab	ad8b96167f
17:3926116 ZZEF1 C>T	17	3926116	3926116	C	T	ZZEF1	c.7099G>A	NM_015113.4	NP_055928.3:p.(Gly2367Ser)	NC_000017.10:g.3926116C>T	(Likely) benign	1 lab	ad8d98c783
4:183721009 TENM3 G>A	4	183721009	183721009	G	A	TENM3	c.7605G>A	NM_001080477.3	NP_001073946.1:p.(Glu2535=)	NC_000004.11:g.183721009G>A	(Likely) benign	1 lab	ad8e197d1f
16:2098650 TSC2 A>T	16	2098650	2098650	A	T	TSC2	c.34A>T	NM_000548.3	NP_000539.2:p.(Lys12Ter)	NC_000016.9:g.2098650A>T	(Likely) pathogenic	1 lab	ad8fc01cc9
7:94217116 SGCE G>A	7	94217116	94217116	G	A	SGCE	c.1279C>T	NM_001099400.1	NP_001092870.1:p.(Arg427Cys)	NC_000007.13:g.94217116G>A	VUS	1 lab	ad9249023e
X:63548703 MTMR8 C>A	X	63548703	63548703	C	A	MTMR8	c.1430G>T	NM_017677.3	NP_060147.2:p.(Gly477Val)	NC_000023.10:g.63548703C>A	(Likely) benign	1 lab	ad96a32e8d
7:106938689 COG5 T>C	7	106938689	106938689	T	C	COG5	c.1304A>G	NM_001161520.1	NP_001154992.1:p.(Gln435Arg)	NC_000007.13:g.106938689T>C	VUS	1 lab	ad97d6f442
20:21142510 KIZ A>AG	20	21142510	21142512	A	AG	KIZ	c.64dup	NM_001352436.1	NP_001339365.1:p.(Val22GlyfsTer8)	NC_000020.10:g.21142512dup	(Likely) pathogenic	1 lab	ad98c3336d
X:83128298 CYLC1 T>A	X	83128298	83128298	T	A	CYLC1	c.582T>A	NM_021118.2	NP_066941.1:p.(Asn194Lys)	NC_000023.10:g.83128298T>A	(Likely) benign	1 lab	ad9a9c0bf7
15:51510788 CYP19A1 T>G	15	51510788	51510788	T	G	CYP19A1	c.693A>C	NM_001347249.1	NP_001334178.1:p.(Pro231=)	NC_000015.9:g.51510788T>G	(Likely) benign	1 lab	ad9aebf98a
X:41200837 DDX3X C>T	X	41200837	41200837	C	T	DDX3X	c.252C>T	NM_001356.4	NP_001347.3:p.(Phe84=)	NC_000023.10:g.41200837C>T	(Likely) benign	1 lab	ad9bcbf18c
1:214818912 CENPF A>G	1	214818912	214818912	A	G	CENPF	c.5999A>G	NM_016343.3	NP_057427.3:p.(His2000Arg)	NC_000001.10:g.214818912A>G	VUS	1 lab	ad9c50e159
2:185802437 ZNF804A C>T	2	185802437	185802437	C	T	ZNF804A	c.2314C>T	NM_194250.1	NP_919226.1:p.(Arg772Cys)	NC_000002.11:g.185802437C>T	VUS	1 lab	ad9ca4ff3c
X:152027352 NSDHL C>T	X	152027352	152027352	C	T	NSDHL	c.306C>T	NM_015922.3	NP_057006.1:p.(Phe102=)	NC_000023.10:g.152027352C>T	(Likely) benign	1 lab	ad9cd02436
2:73675806 ALMS1 C>T	2	73675806	73675806	C	T	ALMS1	c.2155C>T	NM_015120.4	NP_055935.4:p.(His719Tyr)	NC_000002.11:g.73675806C>T	(Likely) benign	1 lab	ad9ce03311
1:11288633 MTOR G>C	1	11288633	11288633	G	C	MTOR	c.3030+92C>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11288633G>C	(Likely) benign	1 lab	ad9d293296
7:151372596 PRKAG2 C>T	7	151372596	151372596	C	T	PRKAG2	c.594G>A	NM_016203.3	NP_057287.2:p.(Pro198=)	NC_000007.13:g.151372596C>T	(Likely) benign	1 lab	ad9e8ae7a8
5:88018724 MEF2C A>G	5	88018724	88018724	A	G	MEF2C	c.1119T>C	NM_002397.4	NP_002388.2:p.(His373=)	NC_000005.9:g.88018724A>G	(Likely) benign	1 lab	ad9edba0f6
20:10622462 JAG1 T>G	20	10622462	10622462	T	G	JAG1	c.2651A>C	NM_000214.3	NP_000205.1:p.(Gln884Pro)	NC_000020.10:g.10622462T>G	VUS	1 lab	ada02d7f92
7:117359557 CTTNBP2 C>T	7	117359557	117359557	C	T	CTTNBP2	c.4644+1G>A	NM_033427.2	NP_219499.1:p.?	NC_000007.13:g.117359557C>T	VUS	1 lab	ada2b458c0
X:41043661 USP9X C>T	X	41043661	41043661	C	T	USP9X	c.3291C>T	NM_001039591.3	NP_001034680.2:p.(Ala1097=)	NC_000023.10:g.41043661C>T	(Likely) benign	1 lab	ada3970051
14:88450790 GALC G>T	14	88450790	88450790	G	T	GALC	c.530C>A	NM_000153.3	NP_000144.2:p.(Thr177Asn)	NC_000014.8:g.88450790G>T	(Likely) benign	1 lab	ada4a0b319
X:153688967 PLXNA3 C>T	X	153688967	153688967	C	T	PLXNA3	c.444C>T	NM_017514.4	NP_059984.3:p.(Pro148=)	NC_000023.10:g.153688967C>T	(Likely) benign	1 lab	adab93764a
3:165491176 BCHE AC>A	3	165491176	165491179	AC	A	BCHE	c.1802del	NM_000055.4	NP_000046.1:p.(Gly601ValfsTer4)	NC_000003.11:g.165491179del	VUS	1 lab	adabc8d0a5
6:129498944 LAMA2 A>G	6	129498944	129498944	A	G	LAMA2	c.1400A>G	NM_000426.3	NP_000417.2:p.(Lys467Arg)	NC_000006.11:g.129498944A>G	(Likely) benign	1 lab	adabf35f46
16:30978387 SETD1A CAG>C	16	30978387	30978390	CAG	C	SETD1A	c.2682+8_2682+9del	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30978389_30978390del	(Likely) benign	1 lab	adaec96655
5:89920962 ADGRV1 A>G	5	89920962	89920962	A	G	ADGRV1	c.574A>G	NM_032119.4	NP_115495.3:p.(Asn192Asp)	NC_000005.9:g.89920962A>G	VUS	1 lab	adaedabdf0
11:102663456 MMP1 T>C	11	102663456	102663456	T	C	MMP1	c.913A>G	NM_002421.3	NP_002412.1:p.(Thr305Ala)	NC_000011.9:g.102663456T>C	(Likely) benign	1 lab	adb01b03c4
9:126135697 CRB2 A>G	9	126135697	126135697	A	G	CRB2	c.2887A>G	NM_173689.6	NP_775960.4:p.(Met963Val)	NC_000009.11:g.126135697A>G	(Likely) benign	1 lab	adb04499b7
11:2906212 CDKN1C C>T	11	2906212	2906212	C	T	CDKN1C	c.508G>A	NM_000076.2	NP_000067.1:p.(Ala170Thr)	NC_000011.9:g.2906212C>T	(Likely) benign	1 lab	adb0cf24ca
2:68408104 PPP3R1 TACC>T	2	68408104	68408111	TACC	T	PPP3R1	c.501_503del	NM_000945.4	NP_000936.1:p.(Val168del)	NC_000002.11:g.68408109_68408111del	VUS	1 lab	adb24e1b4d
10:101646265 DNMBP C>T	10	101646265	101646265	C	T	DNMBP	c.3410G>A	NM_015221.4	NP_056036.1:p.(Arg1137Gln)	NC_000010.10:g.101646265C>T	VUS	1 lab	adb2ab5eec
X:24844617 POLA1 T>C	X	24844617	24844617	T	C	POLA1	c.3635T>C	NM_001330360.1	NP_001317289.1:p.(Ile1212Thr)	NC_000023.10:g.24844617T>C	VUS	1 lab	adb3080ad7
X:24024210 KLHL15 C>A	X	24024210	24024210	C	A	KLHL15	c.601G>T	NM_030624.2	NP_085127.2:p.(Val201Leu)	NC_000023.10:g.24024210C>A	VUS	1 lab	adb3770f5e
22:38525560 PLA2G6 C>T	22	38525560	38525560	C	T	PLA2G6	c.1087G>A	NM_003560.2	NP_003551.2:p.(Val363Met)	NC_000022.10:g.38525560C>T	(Likely) benign	1 lab	adb475bf43
15:25616282 UBE3A TATAAGTA>T	15	25616282	25616295	TATAAGTA	T	UBE3A	c.1032_1038del	NM_130839.5	NP_570854.1:p.(Thr345LysfsTer3)	NC_000015.9:g.25616289_25616295del	(Likely) pathogenic	1 lab	adb4cf5c3e
6:3077139 RIPK1 T>C	6	3077139	3077139	T	C	RIPK1	c.82T>C	NM_003804.5	NP_003795.2:p.(Phe28Leu)	NC_000006.11:g.3077139T>C	VUS	1 lab	adb57b7c19
19:15568116 RASAL3 G>A	19	15568116	15568116	G	A	RASAL3	c.1418C>T	NM_022904.2	NP_075055.1:p.(Thr473Ile)	NC_000019.9:g.15568116G>A	VUS	1 lab	adb58b7378
6:72993762 RIMS1 G>T	6	72993762	72993762	G	T	RIMS1	c.3495G>T	NM_014989.5	NP_055804.2:p.(Lys1165Asn)	NC_000006.11:g.72993762G>T	VUS	1 lab	adb6b7d870
X:12735121 FRMPD4 C>T	X	12735121	12735121	C	T	FRMPD4	c.2543C>T	NM_014728.3	NP_055543.2:p.(Ser848Phe)	NC_000023.10:g.12735121C>T	VUS	1 lab	adb90d9f3c
11:6645634 DCHS1 C>T	11	6645634	6645634	C	T	DCHS1				NC_000011.9:g.6645634C>T	(Likely) benign	1 lab	adb98fd505
12:333248 SLC6A13 A>G	12	333248	333248	A	G	SLC6A13	c.1221T>C	NM_016615.5	NP_057699.2:p.(Pro407=)	NC_000012.11:g.333248A>G	(Likely) benign	1 lab	adbd17627a
1:12309404 VPS13D T>A	1	12309404	12309404	T	A	VPS13D	c.564+8T>A	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12309404T>A	(Likely) benign	1 lab	adbf5e4b75
X:123220575 STAG2 T>C	X	123220575	123220575	T	C	STAG2	c.3232T>C	NM_001042749.2	NP_001036214.1:p.(Ser1078Pro)	NC_000023.10:g.123220575T>C	(Likely) benign	1 lab	adc073f71c
21:46888652 COL18A1 C>T	21	46888652	46888652	C	T	COL18A1	c.603C>T	NM_130445.2	NP_569712.2:p.(Ala201=)	NC_000021.8:g.46888652C>T	(Likely) benign	1 lab	adc0b16b38
11:61730144 BEST1 T>C	11	61730144	61730144	T	C	BEST1	c.1518T>C	NM_004183.3	NP_004174.1:p.(Ser506=)	NC_000011.9:g.61730144T>C	(Likely) benign	1 lab	adc0c4b152
3:3189825 TRNT1 T>C	3	3189825	3189825	T	C	TRNT1	c.1292T>C	NM_001367321.1	NP_001354250.1:p.(Ile431Thr)	NC_000003.11:g.3189825T>C	(Likely) benign	1 lab	adc0c5e58c
2:238449508 MLPH G>A	2	238449508	238449508	G	A	MLPH	c.1354G>A	NM_024101.5	NP_077006.1:p.(Val452Ile)	NC_000002.11:g.238449508G>A	VUS	1 lab	adc1aba2d0
17:80213428 CSNK1D G>A	17	80213428	80213428	G	A	CSNK1D	c.213C>T	NM_139062.3	NP_620693.1:p.(Cys71=)	NC_000017.10:g.80213428G>A	(Likely) benign	1 lab	adc2b2f0df
11:63974815 FERMT3 C>T	11	63974815	63974815	C	T	FERMT3	c.-14-8C>T	NM_178443.2	NP_848537.1:p.?	NC_000011.9:g.63974815C>T	VUS	1 lab	adc2d05a01
6:56362731 DST C>A	6	56362731	56362731	C	A	DST	c.13660G>T	NM_001144769.2	NP_001138241.1:p.(Val4554Phe)	NC_000006.11:g.56362731C>A	VUS	1 lab	adc63259b6
9:135778133 TSC1 C>T	9	135778133	135778133	C	T	TSC1	c.2250G>A	NM_000368.4	NP_000359.1:p.(Trp750Ter)	NC_000009.11:g.135778133C>T	(Likely) pathogenic	1 lab	adc643dfe7
5:14488028 TRIO G>C	5	14488028	14488028	G	C	TRIO	c.7291G>C	NM_007118.3	NP_009049.2:p.(Asp2431His)	NC_000005.9:g.14488028G>C	VUS	1 lab	adc8126493
14:92549604 ATXN3 T>TA	14	92549604	92549614	T	TA	ATXN3	c.476-3dup	NM_004993.5	NP_004984.2:p.?	NC_000014.8:g.92549614dup	(Likely) benign	1 lab	adc8aab693
X:83129028 CYLC1 A>G	X	83129028	83129028	A	G	CYLC1	c.1312A>G	NM_021118.2	NP_066941.1:p.(Lys438Glu)	NC_000023.10:g.83129028A>G	(Likely) benign	1 lab	adc9d7f674
9:317046 DOCK8 G>A	9	317046	317046	G	A	DOCK8	c.745G>A	NM_203447.3	NP_982272.2:p.(Asp249Asn)	NC_000009.11:g.317046G>A	VUS	1 lab	adcc4c999c
11:17632341 OTOG C>G	11	17632341	17632341	C	G	OTOG	c.5530C>G	NM_001277269.1	NP_001264198.1:p.(Pro1844Ala)	NC_000011.9:g.17632341C>G	VUS	1 lab	adccd23313
11:102587154 MMP8 GAA>G	11	102587154	102587178	GAA	G	MMP8	c.785-6_785-5del	NM_002424.3	NP_002415.1:p.?	NC_000011.9:g.102587177_102587178del	(Likely) benign	1 lab	adcfbf688d
17:19265917 B9D1 G>A	17	19265917	19265917	G	A	B9D1	c.118C>T	NM_001243473.1	NP_001230402.1:p.(Pro40Ser)	NC_000017.10:g.19265917G>A	(Likely) benign	1 lab	add177366c
5:35026536 AGXT2 T>A	5	35026536	35026536	T	A	AGXT2	c.849A>T	NM_031900.4	NP_114106.1:p.(Gly283=)	NC_000005.9:g.35026536T>A	VUS	1 lab	add2e8f00e
17:17723587 SREBF1 G>A	17	17723587	17723587	G	A	SREBF1	c.430C>T	NM_001005291.2	NP_001005291.1:p.(Pro144Ser)	NC_000017.10:g.17723587G>A	(Likely) benign	1 lab	add56518ed
X:50659415 BMP15 C>T	X	50659415	50659415	C	T	BMP15	c.987C>T	NM_005448.2	NP_005439.2:p.(Arg329=)	NC_000023.10:g.50659415C>T	(Likely) benign	1 lab	add580a0f4
11:103027440 DYNC2H1 C>T	11	103027440	103027440	C	T	DYNC2H1	c.4068C>T	NM_001080463.1	NP_001073932.1:p.(Phe1356=)	NC_000011.9:g.103027440C>T	(Likely) benign	1 lab	add5860053
20:34091157 CEP250 G>A	20	34091157	34091157	G	A	CEP250	c.4960G>A	NM_007186.5	NP_009117.2:p.(Glu1654Lys)	NC_000020.10:g.34091157G>A	VUS	1 lab	add60eae46
16:75678305 KARS1 T>A	16	75678305	75678305	T	A	KARS1	c.22A>T	NM_001130089.1	NP_001123561.1:p.(Arg8Trp)	NC_000016.9:g.75678305T>A	VUS	1 lab	add6ea04a6
11:64954757 CAPN1 C>A	11	64954757	64954757	C	A	CAPN1	c.831C>A	NM_001198868.1	NP_001185797.1:p.(Thr277=)	NC_000011.9:g.64954757C>A	(Likely) benign	1 lab	add807baa2
X:148579660 IDS T>C	X	148579660	148579660	T	C	IDS	c.686A>G	NM_000202.7	NP_000193.1:p.(His229Arg)	NC_000023.10:g.148579660T>C	(Likely) pathogenic	1 lab	add8e08e7b
8:22019380 SFTPC G>A	8	22019380	22019380	G	A	SFTPC	c.39G>A	NM_001172357.1	NP_001165828.1:p.(Pro13=)	NC_000008.10:g.22019380G>A	(Likely) benign	1 lab	add8f0e44e
15:25615912 UBE3A TTCTC>T	15	25615912	25615917	TTCTC	T	UBE3A	c.1405_1408del	NM_130839.5	NP_570854.1:p.(Glu469ThrfsTer6)	NC_000015.9:g.25615914_25615917del	(Likely) pathogenic	1 lab	adda807044
1:64475010 ROR1 C>G	1	64475010	64475010	C	G	ROR1	c.125C>G	NM_005012.3	NP_005003.2:p.(Pro42Arg)	NC_000001.10:g.64475010C>G	VUS	1 lab	addbcb3769
1:39816610 MACF1 G>T	1	39816610	39816610	G	T	MACF1	c.4933G>T	NM_012090.5	NP_036222.3:p.(Ala1645Ser)	NC_000001.10:g.39816610G>T	(Likely) benign	1 lab	addc79770c
X:27998251 DCAF8L1 C>A	X	27998251	27998251	C	A	DCAF8L1	c.1201G>T	NM_001017930.1	NP_001017930.1:p.(Asp401Tyr)	NC_000023.10:g.27998251C>A	VUS	1 lab	ade032706f
X:147010281 FMR1 T>C	X	147010281	147010281	T	C	FMR1	c.375T>C	NM_002024.5	NP_002015.1:p.(Thr125=)	NC_000023.10:g.147010281T>C	(Likely) benign	1 lab	ade036b375
9:133914273 LAMC3 C>T	9	133914273	133914273	C	T	LAMC3	c.999C>T	NM_006059.3	NP_006050.3:p.(Ser333=)	NC_000009.11:g.133914273C>T	(Likely) benign	1 lab	ade0e4ab0d
14:95557574 DICER1 C>T	14	95557574	95557574	C	T	DICER1	c.5493G>A	NM_030621.4	NP_085124.2:p.(Trp1831Ter)	NC_000014.8:g.95557574C>T	(Likely) pathogenic	1 lab	ade140d7e7
13:108862784 LIG4 C>T	13	108862784	108862784	C	T	LIG4	c.833G>A	NM_002312.3	NP_002303.2:p.(Arg278His)	NC_000013.10:g.108862784C>T	(Likely) pathogenic	1 lab	ade2518702
4:183717864 TENM3 G>T	4	183717864	183717864	G	T	TENM3	c.7288G>T	NM_001080477.3	NP_001073946.1:p.(Asp2430Tyr)	NC_000004.11:g.183717864G>T	VUS	1 lab	ade34bda19
11:103039621 DYNC2H1 A>G	11	103039621	103039621	A	G	DYNC2H1	c.4900A>G	NM_001080463.1	NP_001073932.1:p.(Met1634Val)	NC_000011.9:g.103039621A>G	VUS	1 lab	ade37ecb80
18:43479387 EPG5 G>A	18	43479387	43479387	G	A	EPG5	c.4791C>T	NM_020964.3	NP_066015.2:p.(Ala1597=)	NC_000018.9:g.43479387G>A	(Likely) benign	1 lab	ade7d807a6
11:76919529 MYO7A G>C	11	76919529	76919529	G	C	MYO7A	c.5911G>C	NM_000260.3	NP_000251.3:p.(Asp1971His)	NC_000011.9:g.76919529G>C	VUS	1 lab	ade8073063
X:153178907 ARHGAP4 G>A	X	153178907	153178907	G	A	ARHGAP4	c.1402C>T	NM_001164741.1	NP_001158213.1:p.(Arg468Trp)	NC_000023.10:g.153178907G>A	VUS	1 lab	ade81762f9
5:176709561 NSD1 C>G	5	176709561	176709561	C	G	NSD1	c.5988C>G	NM_022455.4	NP_071900.2:p.(Phe1996Leu)	NC_000005.9:g.176709561C>G	VUS	1 lab	adea2b6d85
5:122714081 CEP120 A>G	5	122714081	122714081	A	G	CEP120	c.2145T>C	NM_153223.3	NP_694955.2:p.(Thr715=)	NC_000005.9:g.122714081A>G	(Likely) benign	1 lab	adece29544
5:149433886 CSF1R C>G	5	149433886	149433886	C	G	CSF1R	c.2762G>C	NM_005211.3	NP_005202.2:p.(Arg921Pro)	NC_000005.9:g.149433886C>G	(Likely) benign	1 lab	aded1911dc
X:17745613 NHS G>A	X	17745613	17745613	G	A	NHS	c.3387G>A	NM_001291867.1	NP_001278796.1:p.(Pro1129=)	NC_000023.10:g.17745613G>A	(Likely) benign	1 lab	adedd12095
12:52681834 KRT81 A>G	12	52681834	52681834	A	G	KRT81	c.834T>C	NM_002281.3	NP_002272.2:p.(Ile278=)	NC_000012.11:g.52681834A>G	(Likely) benign	1 lab	adedd62584
17:29554272 NF1 T>C	17	29554272	29554272	T	C	NF1	c.2288T>C	NM_000267.3	NP_000258.1:p.(Leu763Pro)	NC_000017.10:g.29554272T>C	VUS	1 lab	adef3900f5
X:136112917 GPR101 A>T	X	136112917	136112917	A	T	GPR101	c.917T>A	NM_054021.1	NP_473362.1:p.(Val306Asp)	NC_000023.10:g.136112917A>T	VUS	1 lab	adef4efdb9
2:99012989 CNGA3 T>C	2	99012989	99012989	T	C	CNGA3	c.1356T>C	NM_001298.2	NP_001289.1:p.(Asp452=)	NC_000002.11:g.99012989T>C	(Likely) benign	1 lab	adefcae7a7
2:15307259 NBAS G>A	2	15307259	15307259	G	A	NBAS	c.7029C>T	NM_015909.3	NP_056993.2:p.(Ala2343=)	NC_000002.11:g.15307259G>A	(Likely) benign	1 lab	adf167986a
5:140054277 HARS1 G>A	5	140054277	140054277	G	A	HARS1	c.1445C>T	NM_002109.6	NP_002100.2:p.(Thr482Met)	NC_000005.9:g.140054277G>A	VUS	1 lab	adf1dc6da8
10:104678674 CNNM2 GC>G	10	104678674	104678679	GC	G	CNNM2	c.442del	NM_017649.5	NP_060119.3:p.(Gln148SerfsTer96)	NC_000010.10:g.104678679del	(Likely) pathogenic	1 lab	adf221382d
1:215848645 USH2A T>C	1	215848645	215848645	T	C	USH2A	c.12608A>G	NM_206933.2	NP_996816.2:p.(Gln4203Arg)	NC_000001.10:g.215848645T>C	(Likely) benign	1 lab	adf272f19a
17:62008711 CD79B C>G	17	62008711	62008711	C	G	CD79B	c.102G>C	NM_000626.3	NP_000617.1:p.(Arg34=)	NC_000017.10:g.62008711C>G	(Likely) benign	1 lab	adf2a5598c
X:99917205 SRPX2 G>T	X	99917205	99917205	G	T	SRPX2	c.196G>T	NM_014467.2	NP_055282.1:p.(Asp66Tyr)	NC_000023.10:g.99917205G>T	VUS	1 lab	adf2abb566
7:86823175 DMTF1 T>C	7	86823175	86823175	T	C	DMTF1	c.1785T>C	NM_021145.3	NP_066968.3:p.(Ile595=)	NC_000007.13:g.86823175T>C	(Likely) benign	1 lab	adf324f634
17:29559096 NF1 T>A	17	29559096	29559096	T	A	NF1	c.3203T>A	NM_000267.3	NP_000258.1:p.(Leu1068Ter)	NC_000017.10:g.29559096T>A	(Likely) pathogenic	1 lab	adf32cdfe0
21:45987780 TSPEAR G>A	21	45987780	45987780	G	A	TSPEAR	c.192C>T	NM_144991.2	NP_659428.2:p.(Ala64=)	NC_000021.8:g.45987780G>A	(Likely) benign	1 lab	adf50d6587
6:157525046 ARID1B T>C	6	157525046	157525046	T	C	ARID1B	c.5061T>C	NM_001346813.1	NP_001333742.1:p.(Leu1687=)	NC_000006.11:g.157525046T>C	(Likely) benign	1 lab	adf9ebe8f8
11:44129782 EXT2 A>T	11	44129782	44129782	A	T	EXT2	c.520A>T	NM_001178083.1	NP_001171554.1:p.(Met174Leu)	NC_000011.9:g.44129782A>T	(Likely) benign	1 lab	adfb723045
7:72413036 POM121 C>T	7	72413036	72413036	C	T	POM121	c.1709C>T	NM_001257190.2	NP_001244119.1:p.(Ala570Val)	NC_000007.13:g.72413036C>T	(Likely) benign	1 lab	adfc0959bc
16:30098022 TBX6 G>A	16	30098022	30098022	G	A	TBX6	c.914-6C>T	NM_004608.3	NP_004599.2:p.?	NC_000016.9:g.30098022G>A	(Likely) benign	1 lab	adfc59195b
15:43069308 TTBK2 G>A	15	43069308	43069308	G	A	TTBK2	c.1330C>T	NM_173500.3	NP_775771.3:p.(Arg444Cys)	NC_000015.9:g.43069308G>A	VUS	1 lab	adfc6d41b7
6:16327660 ATXN1 G>A	6	16327660	16327660	G	A	ATXN1	c.882C>T	NM_000332.3	NP_000323.2:p.(Ala294=)	NC_000006.11:g.16327660G>A	(Likely) benign	1 lab	adfcf0a9e6
8:43052104 HGSNAT T>TA	8	43052104	43052105	T	TA	HGSNAT	c.1479dup	NM_152419.2	NP_689632.2:p.(Leu494IlefsTer33)	NC_000008.10:g.43052105dup	(Likely) pathogenic	1 lab	adfd9f3b59
18:77137299 ATP9B C>T	18	77137299	77137299	C	T	ATP9B	c.3360C>T	NM_198531.5	NP_940933.3:p.(Thr1120=)	NC_000018.9:g.77137299C>T	(Likely) benign	1 lab	adff578a82
19:1073527 ARHGAP45 T>C	19	1073527	1073527	T	C	ARHGAP45	c.588T>C	NM_012292.4	NP_036424.2:p.(Asn196=)	NC_000019.9:g.1073527T>C	(Likely) benign	1 lab	ae04b9174a
17:39623520 KRT32 G>A	17	39623520	39623520	G	A	KRT32	c.58C>T	NM_002278.3	NP_002269.3:p.(Arg20Trp)	NC_000017.10:g.39623520G>A	(Likely) benign	1 lab	ae06c400e0
20:62197119 HELZ2 G>A	20	62197119	62197119	G	A	HELZ2	c.3056C>T	NM_001037335.2	NP_001032412.2:p.(Thr1019Met)	NC_000020.10:g.62197119G>A	(Likely) benign	1 lab	ae073a87c1
17:18039090 MYO15A G>A	17	18039090	18039090	G	A	MYO15A	c.4548G>A	NM_016239.3	NP_057323.3:p.(Leu1516=)	NC_000017.10:g.18039090G>A	(Likely) benign	1 lab	ae09690cc5
15:90176099 KIF7 C>T	15	90176099	90176099	C	T	KIF7	c.2847G>A	NM_198525.2	NP_940927.2:p.(Leu949=)	NC_000015.9:g.90176099C>T	(Likely) benign	1 lab	ae09c4aa9d
11:118219742 CD3G G>A	11	118219742	118219742	G	A	CD3G	c.56G>A	NM_000073.2	NP_000064.1:p.(Gly19Asp)	NC_000011.9:g.118219742G>A	(Likely) benign	1 lab	ae09de6554
4:107258016 AIMP1 T>C	4	107258016	107258016	T	C	AIMP1	c.604-10T>C	NM_004757.3	NP_004748.2:p.?	NC_000004.11:g.107258016T>C	(Likely) benign	1 lab	ae0a2191a5
7:45104242 CCM2 A>AC	7	45104242	45104243	A	AC	CCM2	c.470dup	NM_031443.3	NP_113631.1:p.(Ala158SerfsTer78)	NC_000007.13:g.45104243dup	(Likely) pathogenic	1 lab	ae0aba49ec
17:66339933 ARSG G>C	17	66339933	66339933	G	C	ARSG	c.406+1G>C	NM_001352910.1	NP_001339839.1:p.?	NC_000017.10:g.66339933G>C	(Likely) pathogenic	1 lab	ae0ad4b05a
1:181745323 MISSING C>T	1	181745323	181745323	C	T	MISSING				NC_000001.10:g.181745323C>T	(Likely) benign	1 lab	ae0d17f436
10:92680782 ANKRD1 C>A	10	92680782	92680782	C	A	ANKRD1	c.3G>T	NM_014391.2	NP_055206.2:p.(Met1?)	NC_000010.10:g.92680782C>A	VUS	1 lab	ae0d77a079
2:179528373 TTN A>T	2	179528373	179528373	A	T	TTN	c.36513T>A	NM_001267550.1	NP_001254479.1:p.(Pro12171=)	NC_000002.11:g.179528373A>T	(Likely) benign	1 lab	ae0e1a002c
17:29588713 NF1 AGTT>A	17	29588713	29588716	AGTT	A	NF1	c.4578-15_4578-13del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29588714_29588716del	(Likely) pathogenic	1 lab	ae0eab284d
6:43415599 ABCC10 C>T	6	43415599	43415599	C	T	ABCC10	c.3799C>T	NM_033450.2	NP_258261.2:p.(Arg1267Trp)	NC_000006.11:g.43415599C>T	VUS	1 lab	ae10c61b09
5:169135218 DOCK2 C>T	5	169135218	169135218	C	T	DOCK2	c.1429C>T	NM_004946.3	NP_004937.1:p.(Arg477Cys)	NC_000005.9:g.169135218C>T	VUS	1 lab	ae10cd6619
19:621673 POLRMT T>C	19	621673	621673	T	C	POLRMT	c.2025A>G	NM_005035.3	NP_005026.3:p.(Glu675=)	NC_000019.9:g.621673T>C	(Likely) benign	1 lab	ae167654f3
13:52598895 ALG11 A>G	13	52598895	52598895	A	G	ALG11	c.1029A>G	NM_001004127.2	NP_001004127.2:p.(Gly343=)	NC_000013.10:g.52598895A>G	(Likely) benign	1 lab	ae16e7d6a4
17:37576025 MED1 T>C	17	37576025	37576025	T	C	MED1	c.1242A>G	NM_004774.3	NP_004765.2:p.(Gln414=)	NC_000017.10:g.37576025T>C	(Likely) benign	1 lab	ae177a10a2
14:105353012 CEP170B G>A	14	105353012	105353012	G	A	CEP170B	c.2436G>A	NM_001112726.3	NP_001106197.1:p.(Pro812=)	NC_000014.8:g.105353012G>A	(Likely) benign	1 lab	ae1784954f
3:136046023 PCCB ATCC>A	3	136046023	136046026	ATCC	A	PCCB	c.1226_1228del	NM_000532.5	NP_000523.2:p.(Ile409del)	NC_000003.11:g.136046024_136046026del	(Likely) pathogenic	1 lab	ae17f98580
11:76915212 MYO7A C>T	11	76915212	76915212	C	T	MYO7A	c.5418C>T	NM_000260.3	NP_000251.3:p.(Ala1806=)	NC_000011.9:g.76915212C>T	(Likely) benign	1 lab	ae1980414a
7:107556092 DLD A>T	7	107556092	107556092	A	T	DLD	c.826A>T	NM_000108.4	NP_000099.2:p.(Thr276Ser)	NC_000007.13:g.107556092A>T	VUS	1 lab	ae19b6a0f0
9:140611624 EHMT1 T>C	9	140611624	140611624	T	C	EHMT1	c.632T>C	NM_024757.4	NP_079033.4:p.(Val211Ala)	NC_000009.11:g.140611624T>C	(Likely) benign	1 lab	ae1a18e69c
21:45657069 MISSING T>G	21	45657069	45657069	T	G	MISSING				NC_000021.8:g.45657069T>G	(Likely) benign	1 lab	ae1e6c94fc
X:153670957 GDI1 G>A	X	153670957	153670957	G	A	GDI1	c.1282G>A	NM_001493.2	NP_001484.1:p.(Ala428Thr)	NC_000023.10:g.153670957G>A	(Likely) benign	1 lab	ae1ed50efc
21:46900410 COL18A1 C>T	21	46900410	46900410	C	T	COL18A1	c.1428C>T	NM_130445.2	NP_569712.2:p.(Phe476=)	NC_000021.8:g.46900410C>T	(Likely) benign	1 lab	ae1f0a3e42
17:62026053 SCN4A C>G	17	62026053	62026053	C	G	SCN4A	c.3062G>C	NM_000334.4	NP_000325.4:p.(Arg1021Pro)	NC_000017.10:g.62026053C>G	VUS	1 lab	ae1f2c15d4
19:13410096 CACNA1A T>C	19	13410096	13410096	T	C	CACNA1A	c.2363A>G	NM_023035.2	NP_075461.2:p.(Gln788Arg)	NC_000019.9:g.13410096T>C	VUS	1 lab	ae2120ab40
11:119214536 MFRP G>A	11	119214536	119214536	G	A	MFRP	c.1114C>T	NM_031433.3	NP_113621.1:p.(Leu372Phe)	NC_000011.9:g.119214536G>A	(Likely) benign	1 lab	ae212178ab
11:17615158 OTOG G>A	11	17615158	17615158	G	A	OTOG	c.3179G>A	NM_001277269.1	NP_001264198.1:p.(Ser1060Asn)	NC_000011.9:g.17615158G>A	VUS	1 lab	ae2221b2fd
19:42794893 CIC G>A	19	42794893	42794893	G	A	CIC	c.4700G>A	NM_001304815.1	NP_001291744.1:p.(Gly1567Glu)	NC_000019.9:g.42794893G>A	(Likely) benign	1 lab	ae2242e2eb
9:139371928 SEC16A G>A	9	139371928	139371928	G	A	SEC16A	c.140C>T	NM_014866.1	NP_055681.1:p.(Pro47Leu)	NC_000009.11:g.139371928G>A	VUS	1 lab	ae25c7952b
X:153171072 AVPR2 C>T	X	153171072	153171072	C	T	AVPR2	c.112C>T	NM_001146151.2	NP_001139623.1:p.(Arg38Trp)	NC_000023.10:g.153171072C>T	VUS	1 lab	ae26d172d1
8:32472105 NRG1 A>C	8	32472105	32472105	A	C	NRG1	c.451+23A>C	NM_013956.4	NP_039250.2:p.?	NC_000008.10:g.32472105A>C	(Likely) benign	1 lab	ae2a1aecec
5:38924607 OSMR T>C	5	38924607	38924607	T	C	OSMR	c.1954T>C	NM_003999.2	NP_003990.1:p.(Ser652Pro)	NC_000005.9:g.38924607T>C	(Likely) benign	1 lab	ae2d4006be
21:44273856 WDR4 A>G	21	44273856	44273856	A	G	WDR4	c.798T>C	NM_033661.4	NP_387510.1:p.(Pro266=)	NC_000021.8:g.44273856A>G	(Likely) benign	1 lab	ae2d667c75
3:142183932 ATR T>A	3	142183932	142183932	T	A	ATR	c.7041+7A>T	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142183932T>A	(Likely) benign	1 lab	ae2e8df02f
9:101983940 ALG2 CAGGCCTCGCGG>C	9	101983940	101983951	CAGGCCTCGCGG	C	ALG2	c.226_236del	NM_033087.4	NP_149078.1:p.(Pro76GlyfsTer49)	NC_000009.11:g.101983941_101983951del	(Likely) pathogenic	1 lab	ae2ee4d3d7
X:80064957 BRWD3 G>C	X	80064957	80064957	G	C	BRWD3	c.14C>G	NM_153252.4	NP_694984.4:p.(Pro5Arg)	NC_000023.10:g.80064957G>C	(Likely) benign	1 lab	ae2f797ea9
1:59147625 MYSM1 T>C	1	59147625	59147625	T	C	MYSM1	c.1091A>G	NM_001085487.3	NP_001078956.1:p.(Glu364Gly)	NC_000001.10:g.59147625T>C	VUS	1 lab	ae3020757f
2:29416678 ALK C>T	2	29416678	29416678	C	T	ALK				NC_000002.11:g.29416678C>T	(Likely) benign	1 lab	ae318a0c39
20:43249693 ADA T>C	20	43249693	43249693	T	C	ADA	c.941A>G	NM_000022.2	NP_000013.2:p.(Asp314Gly)	NC_000020.10:g.43249693T>C	(Likely) benign	1 lab	ae32e49450
17:76433738 DNAH17 C>T	17	76433738	76433738	C	T	DNAH17	c.12018G>A	NM_173628.3	NP_775899.3:p.(Leu4006=)	NC_000017.10:g.76433738C>T	(Likely) benign	1 lab	ae3563777e
21:46897321 COL18A1 C>A	21	46897321	46897321	C	A	COL18A1	c.929-4C>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46897321C>A	(Likely) benign	1 lab	ae366280e7
3:33055752 GLB1 C>T	3	33055752	33055752	C	T	GLB1	c.1530G>A	NM_000404.3	NP_000395.2:p.(Thr510=)	NC_000003.11:g.33055752C>T	(Likely) benign	1 lab	ae36e94768
12:133219152 POLE C>T	12	133219152	133219152	C	T	POLE	c.4892G>A	NM_006231.3	NP_006222.2:p.(Arg1631His)	NC_000012.11:g.133219152C>T	VUS	1 lab	ae3b3bfa04
7:19156539 TWIST1 G>A	7	19156539	19156539	G	A	TWIST1	c.406C>T	NM_000474.3	NP_000465.1:p.(Pro136Ser)	NC_000007.13:g.19156539G>A	(Likely) pathogenic	1 lab	ae3d2d5094
12:124229504 ATP6V0A2 C>T	12	124229504	124229504	C	T	ATP6V0A2	c.1590C>T	NM_012463.3	NP_036595.2:p.(Pro530=)	NC_000012.11:g.124229504C>T	(Likely) benign	1 lab	ae3e6a719a
5:36976330 NIPBL A>G	5	36976330	36976330	A	G	NIPBL	c.1321A>G	NM_015384.4	NP_056199.2:p.(Thr441Ala)	NC_000005.9:g.36976330A>G	(Likely) benign	1 lab	ae3f06f280
20:33588309 MYH7B C>T	20	33588309	33588309	C	T	MYH7B	c.5121C>T	NM_020884.4	NP_065935.3:p.(Asp1707=)	NC_000020.10:g.33588309C>T	(Likely) benign	1 lab	ae400dcb06
X:75004309 MAGEE2 C>G	X	75004309	75004309	C	G	MAGEE2	c.578G>C	NM_138703.4	NP_619648.1:p.(Arg193Pro)	NC_000023.10:g.75004309C>G	VUS	1 lab	ae41c1484a
1:9781505 PIK3CD C>T	1	9781505	9781505	C	T	PIK3CD	c.1815C>T	NM_005026.3	NP_005017.3:p.(Asp605=)	NC_000001.10:g.9781505C>T	(Likely) benign	1 lab	ae46393dfe
X:47104460 USP11 G>A	X	47104460	47104460	G	A	USP11	c.2261G>A	NM_004651.3	NP_004642.2:p.(Arg754His)	NC_000023.10:g.47104460G>A	(Likely) benign	1 lab	ae4b9d9168
1:979552 AGRN G>A	1	979552	979552	G	A	AGRN	c.2063G>A	NM_001305275.2	NP_001292204.1:p.(Arg688Gln)	NC_000001.10:g.979552G>A	VUS	1 lab	ae4bc2a28e
7:148080780 CNTNAP2 C>T	7	148080780	148080780	C	T	CNTNAP2	c.3515C>T	NM_014141.5	NP_054860.1:p.(Thr1172Ile)	NC_000007.13:g.148080780C>T	VUS	1 lab	ae4d23ac1d
8:142238346 SLC45A4 G>A	8	142238346	142238346	G	A	SLC45A4	c.20C>T	NM_001080431.2	NP_001073900.1:p.(Ala7Val)	NC_000008.10:g.142238346G>A	(Likely) benign	1 lab	ae4d6fa474
7:37934073 NME8 A>C	7	37934073	37934073	A	C	NME8	c.1405A>C	NM_016616.4	NP_057700.3:p.(Ile469Leu)	NC_000007.13:g.37934073A>C	VUS	1 lab	ae6184eb9a
21:47786723 PCNT G>A	21	47786723	47786723	G	A	PCNT	c.2834G>A	NM_006031.5	NP_006022.3:p.(Arg945His)	NC_000021.8:g.47786723G>A	(Likely) benign	1 lab	ae50f451f5
X:77913537 RTL3 T>G	X	77913537	77913537	T	G	RTL3	c.381A>C	NM_152694.2	NP_689907.1:p.(Pro127=)	NC_000023.10:g.77913537T>G	(Likely) benign	1 lab	ae51c8a7bc
10:124797488 ACADSB A>C	10	124797488	124797488	A	C	ACADSB	c.303+125A>C	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124797488A>C	(Likely) benign	1 lab	ae52921ac1
14:65261207 SPTB G>C	14	65261207	65261207	G	C	SPTB	c.1773C>G	NM_001024858.3	NP_001020029.1:p.(Thr591=)	NC_000014.8:g.65261207G>C	(Likely) benign	1 lab	ae5404cd4f
9:111929481 FRRS1L C>T	9	111929481	111929481	C	T	FRRS1L	c.91G>A	NM_014334.3	NP_055149.2:p.(Ala31Thr)	NC_000009.11:g.111929481C>T	(Likely) benign	1 lab	ae55d514df
X:105153097 NRK T>A	X	105153097	105153097	T	A	NRK	c.1464T>A	NM_198465.3	NP_940867.2:p.(Pro488=)	NC_000023.10:g.105153097T>A	(Likely) benign	1 lab	ae56ab6f65
16:2129675 TSC2 G>T	16	2129675	2129675	G	T	TSC2	c.3397+5G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129675G>T	VUS	1 lab	ae57552050
X:84560863 POF1B G>C	X	84560863	84560863	G	C	POF1B	c.1371C>G	NM_024921.3	NP_079197.3:p.(Gly457=)	NC_000023.10:g.84560863G>C	(Likely) benign	1 lab	ae57dec16a
X:110574170 DCX C>T	X	110574170	110574170	C	T	DCX	c.1151G>A	NM_000555.3	NP_000546.2:p.(Arg384Gln)	NC_000023.10:g.110574170C>T	VUS	1 lab	ae5810c220
14:73685864 PSEN1 T>G	14	73685864	73685864	T	G	PSEN1	c.1271T>G	NM_000021.3	NP_000012.1:p.(Leu424Arg)	NC_000014.8:g.73685864T>G	(Likely) pathogenic	1 lab	ae5c0bbbbb
19:55880158 IL11 C>T	19	55880158	55880158	C	T	IL11	c.159G>A	NM_000641.4	NP_000632.1:p.(Thr53=)	NC_000019.9:g.55880158C>T	(Likely) benign	1 lab	ae5c7ee776
19:44933899 ZNF229 C>T	19	44933899	44933899	C	T	ZNF229	c.1057G>A	NM_014518.4	NP_055333.3:p.(Val353Ile)	NC_000019.9:g.44933899C>T	(Likely) benign	1 lab	ae5ddf4204
9:19786042 SLC24A2 A>G	9	19786042	19786042	A	G	SLC24A2	c.823T>C	NM_020344.3	NP_065077.1:p.(Cys275Arg)	NC_000009.11:g.19786042A>G	(Likely) benign	1 lab	ae5f0e2fb9
14:105419006 AHNAK2 T>C	14	105419006	105419006	T	C	AHNAK2	c.2782A>G	NM_138420.3	NP_612429.2:p.(Lys928Glu)	NC_000014.8:g.105419006T>C	VUS	1 lab	ae62585813
8:94777638 TMEM67 G>A	8	94777638	94777638	G	A	TMEM67	c.511G>A	NM_153704.5	NP_714915.3:p.(Val171Ile)	NC_000008.10:g.94777638G>A	VUS	1 lab	ae642fb8e0
15:66621624 DIS3L C>T	15	66621624	66621624	C	T	DIS3L	c.2173C>T	NM_001323945.1	NP_001310874.1:p.(His725Tyr)	NC_000015.9:g.66621624C>T	VUS	1 lab	ae64d8fba9
17:42426551 GRN T>C	17	42426551	42426551	T	C	GRN	c.19T>C	NM_002087.2	NP_002078.1:p.(Trp7Arg)	NC_000017.10:g.42426551T>C	VUS	1 lab	ae6568daa1
18:55218608 FECH T>C	18	55218608	55218608	T	C	FECH				NC_000018.9:g.55218608T>C	(Likely) pathogenic	1 lab	ae66f61ae4
1:1007730 RNF223 C>T	1	1007730	1007730	C	T	RNF223	c.217G>A	NM_001205252.2	NP_001192181.1:p.(Val73Ile)	NC_000001.10:g.1007730C>T	(Likely) benign	1 lab	ae67dd9ccb
17:17700313 RAI1 G>T	17	17700313	17700313	G	T	RAI1	c.4051G>T	NM_030665.3	NP_109590.3:p.(Ala1351Ser)	NC_000017.10:g.17700313G>T	VUS	1 lab	ae690df104
5:39202604 FYB1 C>T	5	39202604	39202604	C	T	FYB1	c.459G>A	NM_001349333.1	NP_001336262.1:p.(Pro153=)	NC_000005.9:g.39202604C>T	(Likely) benign	1 lab	ae6c14d064
7:70255904 AUTS2 C>G	7	70255904	70255904	C	G	AUTS2	c.3630C>G	NM_001127231.2	NP_001120703.1:p.(Pro1210=)	NC_000007.13:g.70255904C>G	(Likely) benign	1 lab	ae6c387183
5:68715270 MARVELD2 G>A	5	68715270	68715270	G	A	MARVELD2	c.58G>A	NM_001038603.2	NP_001033692.2:p.(Asp20Asn)	NC_000005.9:g.68715270G>A	VUS	1 lab	ae6d6a48ee
17:29550503 NF1 AT>A	17	29550503	29550504	AT	A	NF1	c.1764del	NM_001042492.3	NP_001035957.1:p.(Gln589LysfsTer16)	NC_000017.10:g.29550504del	(Likely) pathogenic	1 lab	ae6de82a01
1:24194776 FUCA1 T>C	1	24194776	24194776	T	C	FUCA1	c.1A>G	NM_000147.4	NP_000138.2:p.(Met1?)	NC_000001.10:g.24194776T>C	VUS	1 lab	af1f3d18ca
17:45008479 GOSR2 A>T	17	45008479	45008479	A	T	GOSR2	c.109A>T	NM_004287.4	NP_004278.2:p.(Ile37Phe)	NC_000017.10:g.45008479A>T	VUS	1 lab	ae6facec94
1:24189638 FUCA1 G>A	1	24189638	24189638	G	A	FUCA1	c.648C>T	NM_000147.4	NP_000138.2:p.(Tyr216=)	NC_000001.10:g.24189638G>A	(Likely) benign	1 lab	ae7091acc3
13:77575046 CLN5 A>C	13	77575046	77575046	A	C	CLN5	c.1166A>C	NM_006493.2	NP_006484.1:p.(Lys389Thr)	NC_000013.10:g.77575046A>C	VUS	1 lab	ae722d697a
2:190439877 SLC40A1 C>T	2	190439877	190439877	C	T	SLC40A1	c.271+10G>A	NM_014585.5	NP_055400.1:p.?	NC_000002.11:g.190439877C>T	(Likely) benign	1 lab	ae73c62172
12:49425544 KMT2D T>C	12	49425544	49425544	T	C	KMT2D	c.12944A>G	NM_003482.3	NP_003473.3:p.(Gln4315Arg)	NC_000012.11:g.49425544T>C	(Likely) benign	1 lab	ae74313451
1:24194762 FUCA1 C>A	1	24194762	24194762	C	A	FUCA1	c.15G>T	NM_000147.4	NP_000138.2:p.(Gly5=)	NC_000001.10:g.24194762C>A	VUS	1 lab	ae754834de
14:102894622 TECPR2 T>C	14	102894622	102894622	T	C	TECPR2	c.987T>C	NM_014844.4	NP_055659.2:p.(Ile329=)	NC_000014.8:g.102894622T>C	(Likely) benign	1 lab	ae75b42809
2:197172769 HECW2 G>A	2	197172769	197172769	G	A	HECW2	c.2475C>T	NM_020760.3	NP_065811.1:p.(Tyr825=)	NC_000002.11:g.197172769G>A	(Likely) benign	1 lab	ae75f6ad6f
5:138283098 SIL1 C>T	5	138283098	138283098	C	T	SIL1	c.1094G>A	NM_001037633.1	NP_001032722.1:p.(Arg365His)	NC_000005.9:g.138283098C>T	(Likely) benign	1 lab	ae7708d18b
1:7723699 CAMTA1 C>T	1	7723699	7723699	C	T	CAMTA1	c.1092C>T	NM_015215.3	NP_056030.1:p.(Ser364=)	NC_000001.10:g.7723699C>T	(Likely) benign	1 lab	ae7737e5ff
17:29556462 NF1 GT>G	17	29556462	29556468	GT	G	NF1	c.2835del	NM_001042492.3	NP_001035957.1:p.(Phe945LeufsTer9)	NC_000017.10:g.29556468del	(Likely) pathogenic	1 lab	ae78894671
19:3637485 PIP5K1C C>T	19	3637485	3637485	C	T	PIP5K1C	c.2047G>A	NM_001300849.1	NP_001287778.1:p.(Gly683Arg)	NC_000019.9:g.3637485C>T	(Likely) benign	1 lab	ae794ab6fa
16:2105519 TSC2 C>T	16	2105519	2105519	C	T	TSC2	c.598C>T	NM_000548.3	NP_000539.2:p.(Gln200Ter)	NC_000016.9:g.2105519C>T	(Likely) pathogenic	1 lab	ae7a678828
8:17722161 FGL1 A>C	8	17722161	17722161	A	C	FGL1	c.879T>G	NM_201553.1	NP_963847.1:p.(Tyr293Ter)	NC_000008.10:g.17722161A>C	VUS	1 lab	ae7b381d24
X:153580717 FLNA G>A	X	153580717	153580717	G	A	FLNA	c.6601C>T	NM_001110556.2	NP_001104026.1:p.(Arg2201Cys)	NC_000023.10:g.153580717G>A	VUS	1 lab	ae7ccfe418
8:120816212 TAF2 T>C	8	120816212	120816212	T	C	TAF2	c.466A>G	NM_003184.3	NP_003175.1:p.(Lys156Glu)	NC_000008.10:g.120816212T>C	(Likely) benign	1 lab	ae7e028849
X:73963107 NEXMIF G>C	X	73963107	73963107	G	C	NEXMIF	c.1285C>G	NM_001008537.2	NP_001008537.1:p.(Leu429Val)	NC_000023.10:g.73963107G>C	(Likely) benign	1 lab	ae7f1e5d4a
1:92941616 GFI1 C>T	1	92941616	92941616	C	T	GFI1	c.1239G>A	NM_005263.3	NP_005254.2:p.(Arg413=)	NC_000001.10:g.92941616C>T	(Likely) benign	1 lab	ae82583504
11:46921454 LRP4 A>G	11	46921454	46921454	A	G	LRP4	c.390T>C	NM_002334.3	NP_002325.2:p.(Asp130=)	NC_000011.9:g.46921454A>G	(Likely) benign	1 lab	ae8352e22b
5:39364495 C9 C>A	5	39364495	39364495	C	A	C9	c.72G>T	NM_001737.3	NP_001728.1:p.(Thr24=)	NC_000005.9:g.39364495C>A	(Likely) benign	1 lab	ae8419be2b
12:49433015 KMT2D C>T	12	49433015	49433015	C	T	KMT2D	c.8356G>A	NM_003482.3	NP_003473.3:p.(Val2786Met)	NC_000012.11:g.49433015C>T	(Likely) benign	1 lab	ae85373c5d
20:47864651 ZNFX1 T>C	20	47864651	47864651	T	C	ZNFX1	c.4910A>G	NM_021035.3	NP_066363.1:p.(Lys1637Arg)	NC_000020.10:g.47864651T>C	(Likely) benign	1 lab	ae8553ccf7
1:234745235 IRF2BP2 G>C	1	234745235	234745235	G	C	IRF2BP2	c.6C>G	NM_182972.2	NP_892017.2:p.(Ala2=)	NC_000001.10:g.234745235G>C	(Likely) benign	1 lab	ae866a7e14
19:1043238 ABCA7 G>T	19	1043238	1043238	G	T	ABCA7	c.778G>T	NM_019112.3	NP_061985.2:p.(Asp260Tyr)	NC_000019.9:g.1043238G>T	VUS	1 lab	ae88c12d84
X:123020373 XIAP T>TG	X	123020373	123020375	T	TG	XIAP	c.863dup	NM_001167.3	NP_001158.2:p.(Phe289IlefsTer6)	NC_000023.10:g.123020375dup	(Likely) pathogenic	1 lab	ae8c0d96a5
11:64602438 CDC42BPG G>A	11	64602438	64602438	G	A	CDC42BPG	c.2061-3C>T	NM_017525.3	NP_059995.2:p.?	NC_000011.9:g.64602438G>A	(Likely) benign	1 lab	ae8cdba50a
6:111688904 REV3L T>C	6	111688904	111688904	T	C	REV3L	c.5853A>G	NM_001286431.1	NP_001273360.1:p.(Gly1951=)	NC_000006.11:g.111688904T>C	(Likely) benign	1 lab	ae8eb11c88
14:31535484 AP4S1 C>T	14	31535484	31535484	C	T	AP4S1	c.82C>T	NM_001254728.1	NP_001241657.1:p.(Arg28Cys)	NC_000014.8:g.31535484C>T	VUS	1 lab	ae91f8e80a
9:139581622 AGPAT2 C>T	9	139581622	139581622	C	T	AGPAT2	c.182+6G>A	NM_006412.3	NP_006403.2:p.?	NC_000009.11:g.139581622C>T	(Likely) benign	1 lab	ae92598212
22:23653971 BCR C>T	22	23653971	23653971	C	T	BCR	c.3270C>T	NM_004327.3	NP_004318.3:p.(Arg1090=)	NC_000022.10:g.23653971C>T	(Likely) benign	1 lab	ae9340d3fd
19:36486520 SDHAF1 G>T	19	36486520	36486520	G	T	SDHAF1	c.344G>T	NM_001042631.2	NP_001036096.1:p.(Arg115Leu)	NC_000019.9:g.36486520G>T	VUS	1 lab	ae939157f6
12:40154010 SLC2A13 A>C	12	40154010	40154010	A	C	SLC2A13	c.1765T>G	NM_052885.4	NP_443117.3:p.(Phe589Val)	NC_000012.11:g.40154010A>C	VUS	1 lab	ae962eb0bd
7:91852290 KRIT1 ATAC>A	7	91852290	91852296	ATAC	A	KRIT1	c.1255-1_1256del	NM_194454.3	NP_919436.1:p.?	NC_000007.13:g.91852294_91852296del	(Likely) pathogenic	1 lab	ae965acc28
10:50682265 ERCC6 T>C	10	50682265	50682265	T	C	ERCC6	c.2406A>G	NM_000124.2	NP_000115.1:p.(Leu802=)	NC_000010.10:g.50682265T>C	(Likely) benign	1 lab	ae9744d2df
14:23886400 MYH7 T>A	14	23886400	23886400	T	A	MYH7	c.4481A>T	NM_000257.2	NP_000248.2:p.(His1494Leu)	NC_000014.8:g.23886400T>A	VUS	1 lab	ae9764ce80
2:51254631 NRXN1 G>A	2	51254631	51254631	G	A	NRXN1	c.772+9C>T	NM_001135659.2	NP_001129131.1:p.?	NC_000002.11:g.51254631G>A	(Likely) benign	1 lab	ae998bfb4b
13:110839540 COL4A1 G>A	13	110839540	110839540	G	A	COL4A1	c.1673C>T	NM_001845.5	NP_001836.3:p.(Ala558Val)	NC_000013.10:g.110839540G>A	(Likely) benign	1 lab	ae9b5665b7
16:11785901 TXNDC11 C>G	16	11785901	11785901	C	G	TXNDC11	c.1226G>C	NM_001303447.1	NP_001290376.1:p.(Gly409Ala)	NC_000016.9:g.11785901C>G	(Likely) benign	1 lab	ae9d8152b0
8:68419114 CPA6 G>A	8	68419114	68419114	G	A	CPA6	c.544C>T	NM_020361.4	NP_065094.3:p.(Arg182Ter)	NC_000008.10:g.68419114G>A	VUS	1 lab	ae9dba7c78
1:89477622 GBP3 C>G	1	89477622	89477622	C	G	GBP3	c.555G>C	NM_001319180.1	NP_001306109.1:p.(Gln185His)	NC_000001.10:g.89477622C>G	(Likely) benign	1 lab	ae9dc3e539
5:138661230 MATR3 C>T	5	138661230	138661230	C	T	MATR3	c.2250C>T	NM_199189.2	NP_954659.1:p.(Asn750=)	NC_000005.9:g.138661230C>T	(Likely) benign	1 lab	ae9ee47de3
11:2905325 CDKN1C G>A	11	2905325	2905325	G	A	CDKN1C	c.860C>T	NM_000076.2	NP_000067.1:p.(Ser287Leu)	NC_000011.9:g.2905325G>A	VUS	1 lab	ae9f685a8c
5:112174847 APC G>GAT	5	112174847	112174851	G	GAT	APC	c.3559_3560dup	NM_000038.4	NP_000029.2:p.(Pro1188PhefsTer78)	NC_000005.9:g.112174850_112174851dup	(Likely) pathogenic	1 lab	aea1098977
1:247597414 NLRP3 C>A	1	247597414	247597414	C	A	NLRP3	c.2331C>A	NM_001243133.1	NP_001230062.1:p.(Arg777=)	NC_000001.10:g.247597414C>A	(Likely) benign	1 lab	aea275b7d2
17:29662035 NF1 G>T	17	29662035	29662035	G	T	NF1	c.5929G>T	NM_000267.3	NP_000258.1:p.(Gly1977Ter)	NC_000017.10:g.29662035G>T	(Likely) pathogenic	1 lab	aea2a4ebbb
X:73751268 SLC16A2 GCAT>G	X	73751268	73751273	GCAT	G	SLC16A2	c.1503_1505del	NM_006517.5	NP_006508.2:p.(His501del)	NC_000023.10:g.73751271_73751273del	(Likely) pathogenic	1 lab	aea369e510
17:39019952 KRT12 T>C	17	39019952	39019952	T	C	KRT12	c.969+3A>G	NM_000223.4	NP_000214.1:p.?	NC_000017.10:g.39019952T>C	VUS	1 lab	aea4478a9a
5:90016829 ADGRV1 C>T	5	90016829	90016829	C	T	ADGRV1	c.9701C>T	NM_032119.4	NP_115495.3:p.(Ala3234Val)	NC_000005.9:g.90016829C>T	VUS	1 lab	aea6f09730
16:85667528 GSE1 C>T	16	85667528	85667528	C	T	GSE1	c.16C>T	NM_014615.4	NP_055430.1:p.(His6Tyr)	NC_000016.9:g.85667528C>T	(Likely) benign	1 lab	aea7d30660
1:986431 AGRN C>T	1	986431	986431	C	T	AGRN	c.5265+8C>T	NM_001305275.2	NP_001292204.1:p.?	NC_000001.10:g.986431C>T	(Likely) benign	1 lab	aea81dd217
X:44920574 KDM6A T>G	X	44920574	44920574	T	G	KDM6A	c.1491T>G	NM_001291415.1	NP_001278344.1:p.(Thr497=)	NC_000023.10:g.44920574T>G	(Likely) benign	1 lab	aea95dae2f
9:111870797 TMEM245 T>C	9	111870797	111870797	T	C	TMEM245	c.633A>G	NM_032012.4	NP_114401.2:p.(Ala211=)	NC_000009.11:g.111870797T>C	(Likely) benign	1 lab	aeae3310c9
2:50318452 NRXN1 C>T	2	50318452	50318452	C	T	NRXN1	c.3838+9G>A	NM_001135659.2	NP_001129131.1:p.?	NC_000002.11:g.50318452C>T	(Likely) benign	1 lab	aeb0e7bd25
11:47370015 MYBPC3 C>T	11	47370015	47370015	C	T	MYBPC3	c.732G>A	NM_000256.3	NP_000247.2:p.(Lys244=)	NC_000011.9:g.47370015C>T	(Likely) benign	1 lab	aeb223064a
9:131678462 LRRC8A A>G	9	131678462	131678462	A	G	LRRC8A	c.2245A>G	NM_001127244.1	NP_001120716.1:p.(Arg749Gly)	NC_000009.11:g.131678462A>G	VUS	1 lab	aeb22a5b3c
1:245848904 KIF26B G>A	1	245848904	245848904	G	A	KIF26B	c.2619G>A	NM_018012.4	NP_060482.2:p.(Thr873=)	NC_000001.10:g.245848904G>A	(Likely) benign	1 lab	aeb27e4e37
12:56088217 ITGA7 C>T	12	56088217	56088217	C	T	ITGA7	c.2369+10G>A	NM_001144996.1	NP_001138468.1:p.?	NC_000012.11:g.56088217C>T	(Likely) benign	1 lab	aeb3514fb1
10:105797397 COL17A1 G>A	10	105797397	105797397	G	A	COL17A1	c.3205C>T	NM_000494.4	NP_000485.3:p.(Arg1069Trp)	NC_000010.10:g.105797397G>A	VUS	1 lab	aeb3c4f72c
18:34156439 FHOD3 G>A	18	34156439	34156439	G	A	FHOD3	c.537G>A	NM_001281740.2	NP_001268669.1:p.(Val179=)	NC_000018.9:g.34156439G>A	(Likely) benign	1 lab	aeb58b7d95
15:75640168 NEIL1 A>C	15	75640168	75640168	A	C	NEIL1	c.37A>C	NM_001256552.1	NP_001243481.1:p.(Lys13Gln)	NC_000015.9:g.75640168A>C	VUS	1 lab	aeb5a996c9
10:21806053 SKIDA1 AGCGGCGGCG>A	10	21806053	21806079	AGCGGCGGCG	A	SKIDA1	c.690_698del	NM_207371.4	NP_997254.3:p.(Ala242_Ala244del)	NC_000010.10:g.21806071_21806079del	VUS	1 lab	aeb66091b8
19:54313326 NLRP12 G>C	19	54313326	54313326	G	C	NLRP12	c.1587C>G	NM_001277126.1	NP_001264055.1:p.(Asp529Glu)	NC_000019.9:g.54313326G>C	(Likely) benign	1 lab	aeb8bf0178
15:86687049 AGBL1 C>T	15	86687049	86687049	C	T	AGBL1	c.235C>T	NM_152336.3	NP_689549.3:p.(Arg79Trp)	NC_000015.9:g.86687049C>T	(Likely) benign	1 lab	aeb9c07ae6
19:3590028 GIPC3 G>A	19	3590028	3590028	G	A	GIPC3	c.788-9G>A	NM_133261.2	NP_573568.1:p.?	NC_000019.9:g.3590028G>A	VUS	1 lab	aebbe57f25
1:985906 AGRN G>A	1	985906	985906	G	A	AGRN	c.5076G>A	NM_001305275.2	NP_001292204.1:p.(Ser1692=)	NC_000001.10:g.985906G>A	(Likely) benign	1 lab	aebd31fa7b
15:73615830 HCN4 G>A	15	73615830	73615830	G	A	HCN4	c.2604C>T	NM_005477.2	NP_005468.1:p.(Pro868=)	NC_000015.9:g.73615830G>A	(Likely) benign	1 lab	aebec77dbd
X:66765228 AR A>G	X	66765228	66765228	A	G	AR	c.240A>G	NM_000044.4	NP_000035.2:p.(Gln80=)	NC_000023.10:g.66765228A>G	(Likely) benign	1 lab	aec20ca9cd
16:67321915 PLEKHG4 G>A	16	67321915	67321915	G	A	PLEKHG4	c.3218G>A	NM_001129727.2	NP_001123199.1:p.(Arg1073Gln)	NC_000016.9:g.67321915G>A	VUS	1 lab	aec6937aaa
X:154754255 TMLHE C>T	X	154754255	154754255	C	T	TMLHE	c.220G>A	NM_018196.3	NP_060666.1:p.(Val74Ile)	NC_000023.10:g.154754255C>T	VUS	1 lab	aec6b58f9d
3:52428499 DNAH1 C>T	3	52428499	52428499	C	T	DNAH1	c.10645C>T	NM_015512.4	NP_056327.4:p.(Leu3549=)	NC_000003.11:g.52428499C>T	(Likely) benign	1 lab	aec8708974
3:193382701 OPA1 A>T	3	193382701	193382701	A	T	OPA1	c.2694A>T	NM_130837.2	NP_570850.2:p.(Arg898Ser)	NC_000003.11:g.193382701A>T	VUS	1 lab	aec8aef2a6
6:90428701 MDN1 G>A	6	90428701	90428701	G	A	MDN1	c.6106C>T	NM_014611.2	NP_055426.1:p.(Arg2036Cys)	NC_000006.11:g.90428701G>A	(Likely) benign	1 lab	aecaf78cad
14:102807944 ZNF839 T>G	14	102807944	102807944	T	G	ZNF839	c.2212T>G	NM_018335.4	NP_060805.3:p.(Trp738Gly)	NC_000014.8:g.102807944T>G	(Likely) benign	1 lab	aecb9adaa0
2:179401698 TTN C>T	2	179401698	179401698	C	T	TTN	c.100138G>A	NM_001267550.1	NP_001254479.1:p.(Val33380Met)	NC_000002.11:g.179401698C>T	VUS	1 lab	aecba58909
3:10107090 FANCD2 G>A	3	10107090	10107090	G	A	FANCD2	c.2181G>A	NM_001319984.1	NP_001306913.1:p.(Pro727=)	NC_000003.11:g.10107090G>A	(Likely) benign	1 lab	aecbeeb507
17:70120121 SOX9 C>T	17	70120121	70120121	C	T	SOX9	c.1123C>T	NM_000346.3	NP_000337.1:p.(Gln375Ter)	NC_000017.10:g.70120121C>T	(Likely) pathogenic	1 lab	aecc6952a9
X:50378622 SHROOM4 C>T	X	50378622	50378622	C	T	SHROOM4	c.451G>A	NM_020717.3	NP_065768.2:p.(Glu151Lys)	NC_000023.10:g.50378622C>T	VUS	1 lab	aecda242a3
5:138665047 MATR3 A>C	5	138665047	138665047	A	C	MATR3	c.2507A>C	NM_199189.2	NP_954659.1:p.(Lys836Thr)	NC_000005.9:g.138665047A>C	VUS	1 lab	aed26aa92f
11:65108493 DPF2 C>T	11	65108493	65108493	C	T	DPF2	c.250C>T	NM_001330308.1	NP_001317237.1:p.(Arg84Ter)	NC_000011.9:g.65108493C>T	VUS	1 lab	aed28b0371
17:18061158 MYO15A G>A	17	18061158	18061158	G	A	MYO15A	c.8911G>A	NM_016239.3	NP_057323.3:p.(Val2971Met)	NC_000017.10:g.18061158G>A	VUS	1 lab	aed2dfc3f9
X:18220015 BEND2 G>T	X	18220015	18220015	G	T	BEND2	c.953C>A	NM_153346.4	NP_699177.2:p.(Thr318Lys)	NC_000023.10:g.18220015G>T	VUS	1 lab	aed50dc3d2
X:24329892 SUPT20HL2 G>A	X	24329892	24329892	G	A	SUPT20HL2	c.1619C>T	NM_001136233.2	NP_001129705.2:p.(Ala540Val)	NC_000023.10:g.24329892G>A	(Likely) benign	1 lab	aed745250a
11:89701958 TRIM64 A>C	11	89701958	89701958	A	C	TRIM64	c.287A>C	NM_001136486.1	NP_001129958.1:p.(Glu96Ala)	NC_000011.9:g.89701958A>C	(Likely) benign	1 lab	aed89170e6
4:126237952 FAT4 A>G	4	126237952	126237952	A	G	FAT4	c.386A>G	NM_001291303.1	NP_001278232.1:p.(Asn129Ser)	NC_000004.11:g.126237952A>G	VUS	1 lab	aed8eab0be
5:90119330 ADGRV1 G>A	5	90119330	90119330	G	A	ADGRV1	c.16285G>A	NM_032119.4	NP_115495.3:p.(Glu5429Lys)	NC_000005.9:g.90119330G>A	(Likely) benign	1 lab	aed90951da
22:51117766 MISSING T>C	22	51117766	51117766	T	C	MISSING				NC_000022.10:g.51117766T>C	(Likely) benign	1 lab	aedab5337e
5:94852959 SKIC3 A>C	5	94852959	94852959	A	C	SKIC3	c.2182T>G	NM_014639.3	NP_055454.1:p.(Tyr728Asp)	NC_000005.9:g.94852959A>C	(Likely) benign	1 lab	aedac7f56a
9:13222426 MPDZ T>C	9	13222426	13222426	T	C	MPDZ	c.553A>G	NM_001330637.1	NP_001317566.1:p.(Thr185Ala)	NC_000009.11:g.13222426T>C	(Likely) benign	1 lab	aedaf96e52
20:30414511 MYLK2 TG>T	20	30414511	30414513	TG	T	MYLK2	c.1078del	NM_033118.4	NP_149109.1:p.(Glu360SerfsTer19)	NC_000020.10:g.30414513del	VUS	1 lab	aeddec9971
3:196198997 RNF168 G>A	3	196198997	196198997	G	A	RNF168	c.1409C>T	NM_152617.3	NP_689830.2:p.(Ser470Phe)	NC_000003.11:g.196198997G>A	VUS	1 lab	aede8209d5
17:29422389 NF1 T>G	17	29422389	29422389	T	G	NF1	c.60+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422389T>G	(Likely) pathogenic	1 lab	aedeccd88e
X:57620614 ZXDB T>C	X	57620614	57620614	T	C	ZXDB	c.2133T>C	NM_007157.3	NP_009088.1:p.(Ser711=)	NC_000023.10:g.57620614T>C	(Likely) benign	1 lab	aedf02e0a0
X:41334061 NYX G>A	X	41334061	41334061	G	A	NYX	c.1355G>A	NM_022567.2	NP_072089.1:p.(Gly452Glu)	NC_000023.10:g.41334061G>A	(Likely) benign	1 lab	aee0da1b12
15:89755011 RLBP1 C>T	15	89755011	89755011	C	T	RLBP1	c.647G>A	NM_000326.4	NP_000317.1:p.(Arg216Gln)	NC_000015.9:g.89755011C>T	(Likely) benign	1 lab	aee139b7e1
19:4817288 TICAM1 AAGGAGG>A	19	4817288	4817312	AAGGAGG	A	TICAM1	c.1096_1101del	NM_182919.4	NP_891549.1:p.(Pro366_Pro367del)	NC_000019.9:g.4817307_4817312del	(Likely) benign	1 lab	aee1b72b8c
12:104078855 STAB2 C>T	12	104078855	104078855	C	T	STAB2	c.2990C>T	NM_017564.10	NP_060034.9:p.(Ala997Val)	NC_000012.11:g.104078855C>T	(Likely) benign	1 lab	aee4c26a4b
8:10464459 RP1L1 G>T	8	10464459	10464459	G	T	RP1L1	c.7149C>A	NM_178857.5	NP_849188.4:p.(Pro2383=)	NC_000008.10:g.10464459G>T	(Likely) benign	1 lab	aee579e106
1:26795513 DHDDS G>A	1	26795513	26795513	G	A	DHDDS	c.896G>A	NM_024887.3	NP_079163.2:p.(Arg299His)	NC_000001.10:g.26795513G>A	(Likely) benign	1 lab	aee6f3fab1
9:134340151 PRRC2B A>T	9	134340151	134340151	A	T	PRRC2B	c.1406A>T	NM_013318.3	NP_037450.2:p.(Lys469Met)	NC_000009.11:g.134340151A>T	VUS	1 lab	aee79ba0c0
9:139266522 CARD9 G>T	9	139266522	139266522	G	T	CARD9	c.9C>A	NM_052813.4	NP_434700.2:p.(Asp3Glu)	NC_000009.11:g.139266522G>T	(Likely) benign	1 lab	aee80aec11
X:79947374 BRWD3 T>C	X	79947374	79947374	T	C	BRWD3	c.3429A>G	NM_153252.4	NP_694984.4:p.(Arg1143=)	NC_000023.10:g.79947374T>C	(Likely) benign	1 lab	aee82811d4
19:9084276 MUC16 G>A	19	9084276	9084276	G	A	MUC16	c.7539C>T	NM_024690.2	NP_078966.2:p.(Asp2513=)	NC_000019.9:g.9084276G>A	(Likely) benign	1 lab	aee92dcc9f
1:110604143 ALX3 G>A	1	110604143	110604143	G	A	ALX3	c.637C>T	NM_006492.3	NP_006483.2:p.(Arg213Cys)	NC_000001.10:g.110604143G>A	VUS	1 lab	aee94f350f
11:31653923 ELP4 A>C	11	31653923	31653923	A	C	ELP4	c.898A>C	NM_001288726.1	NP_001275655.1:p.(Ile300Leu)	NC_000011.9:g.31653923A>C	(Likely) benign	1 lab	aee97ee11e
10:27012981 PDSS1 G>C	10	27012981	27012981	G	C	PDSS1	c.250G>C	NM_001321979.1	NP_001308908.1:p.(Glu84Gln)	NC_000010.10:g.27012981G>C	VUS	1 lab	aeeacb7ab6
12:133253213 POLE A>C	12	133253213	133253213	A	C	POLE	c.828T>G	NM_006231.3	NP_006222.2:p.(Ile276Met)	NC_000012.11:g.133253213A>C	VUS	1 lab	aeebbc4a43
4:79458300 FRAS1 C>G	4	79458300	79458300	C	G	FRAS1	c.11244C>G	NM_025074.7	NP_079350.5:p.(Pro3748=)	NC_000004.11:g.79458300C>G	(Likely) benign	1 lab	aeed7ec527
8:10474035 RP1L1 G>A	8	10474035	10474035	G	A	RP1L1	c.672C>T	NM_178857.5	NP_849188.4:p.(Ala224=)	NC_000008.10:g.10474035G>A	(Likely) benign	1 lab	aeee479bdf
4:87656789 PTPN13 G>A	4	87656789	87656789	G	A	PTPN13	c.2194G>A	NM_080685.2	NP_542416.1:p.(Ala732Thr)	NC_000004.11:g.87656789G>A	VUS	1 lab	aeef220a99
8:144993703 PLEC G>A	8	144993703	144993703	G	A	PLEC	c.10697C>T	NM_201380.3	NP_958782.1:p.(Ala3566Val)	NC_000008.10:g.144993703G>A	VUS	1 lab	aeef9f7296
11:64950638 CAPN1 A>G	11	64950638	64950638	A	G	CAPN1	c.307A>G	NM_001198868.1	NP_001185797.1:p.(Thr103Ala)	NC_000011.9:g.64950638A>G	(Likely) benign	1 lab	aeefec2882
16:2136811 TSC2 A>G	16	2136811	2136811	A	G	TSC2	c.4928A>G	NM_000548.3	NP_000539.2:p.(Asn1643Ser)	NC_000016.9:g.2136811A>G	(Likely) pathogenic	1 lab	aef20ee3ab
15:74659692 CYP11A1 C>T	15	74659692	74659692	C	T	CYP11A1	c.235G>A	NM_000781.2	NP_000772.2:p.(Val79Ile)	NC_000015.9:g.74659692C>T	(Likely) benign	1 lab	aef231fc7d
X:8138138 VCX2 C>T	X	8138138	8138138	C	T	VCX2	c.355G>A	NM_016378.3	NP_057462.2:p.(Glu119Lys)	NC_000023.10:g.8138138C>T	(Likely) benign	1 lab	aef58cd400
11:47727193 AGBL2 CA>C	11	47727193	47727209	CA	C	AGBL2	c.287-8del	NM_024783.4	NP_079059.2:p.?	NC_000011.9:g.47727209del	(Likely) benign	1 lab	aef6246832
20:10030038 ANKEF1 G>A	20	10030038	10030038	G	A	ANKEF1	c.821G>A	NM_022096.6	NP_071379.3:p.(Gly274Glu)	NC_000020.10:g.10030038G>A	VUS	1 lab	aef947777e
11:31811511 PAX6 T>C	11	31811511	31811511	T	C	PAX6				NC_000011.9:g.31811511T>C	VUS	1 lab	aef978cf26
15:90172326 KIF7 C>T	15	90172326	90172326	C	T	KIF7	c.3545G>A	NM_198525.2	NP_940927.2:p.(Ser1182Asn)	NC_000015.9:g.90172326C>T	VUS	1 lab	aefa5fde50
1:38265465 MANEAL A>G	1	38265465	38265465	A	G	MANEAL	c.964A>G	NM_001113482.1	NP_001106954.1:p.(Met322Val)	NC_000001.10:g.38265465A>G	(Likely) benign	1 lab	aefa94f8e8
4:151656420 LRBA G>A	4	151656420	151656420	G	A	LRBA	c.5744C>T	NM_001199282.2	NP_001186211.2:p.(Ala1915Val)	NC_000004.11:g.151656420G>A	VUS	1 lab	aefb2f68bf
7:103185627 RELN C>A	7	103185627	103185627	C	A	RELN	c.6467G>T	NM_173054.2	NP_774959.1:p.(Gly2156Val)	NC_000007.13:g.103185627C>A	VUS	1 lab	aefce4fbd7
5:140077623 HARS2 A>G	5	140077623	140077623	A	G	HARS2	c.1421A>G	NM_012208.3	NP_036340.1:p.(Glu474Gly)	NC_000005.9:g.140077623A>G	VUS	1 lab	aefe23c5d7
17:18024931 MYO15A A>C	17	18024931	18024931	A	C	MYO15A	c.2817A>C	NM_016239.3	NP_057323.3:p.(Pro939=)	NC_000017.10:g.18024931A>C	(Likely) benign	1 lab	aefec7ec97
16:70215817 CLEC18C C>T	16	70215817	70215817	C	T	CLEC18C	c.521C>T	NM_173619.3	NP_775890.2:p.(Ala174Val)	NC_000016.9:g.70215817C>T	(Likely) benign	1 lab	aeff63c242
22:33700397 LARGE1 G>A	22	33700397	33700397	G	A	LARGE1	c.1548C>T	NM_004737.5	NP_004728.1:p.(Tyr516=)	NC_000022.10:g.33700397G>A	(Likely) benign	1 lab	af014047ef
18:34424181 KIAA1328 G>A	18	34424181	34424181	G	A	KIAA1328	c.248G>A	NM_020776.3	NP_065827.1:p.(Arg83Lys)	NC_000018.9:g.34424181G>A	(Likely) benign	1 lab	af05efda58
X:128692944 OCRL C>T	X	128692944	128692944	C	T	OCRL	c.688C>T	NM_000276.3	NP_000267.2:p.(Arg230Ter)	NC_000023.10:g.128692944C>T	(Likely) pathogenic	1 lab	af06f954b9
8:27634593 ESCO2 G>T	8	27634593	27634593	G	T	ESCO2	c.768G>T	NM_001017420.2	NP_001017420.1:p.(Ala256=)	NC_000008.10:g.27634593G>T	(Likely) benign	1 lab	af07122f96
20:10036204 ANKEF1 C>T	20	10036204	10036204	C	T	ANKEF1	c.2227C>T	NM_022096.6	NP_071379.3:p.(Arg743Ter)	NC_000020.10:g.10036204C>T	VUS	1 lab	af0b0c8810
18:67759946 RTTN A>C	18	67759946	67759946	A	C	RTTN	c.3998T>G	NM_173630.3	NP_775901.3:p.(Leu1333Ter)	NC_000018.9:g.67759946A>C	(Likely) pathogenic	1 lab	af0b3ba790
19:3982850 EEF2 G>A	19	3982850	3982850	G	A	EEF2	c.567C>T	NM_001961.3	NP_001952.1:p.(Ile189=)	NC_000019.9:g.3982850G>A	(Likely) benign	1 lab	af0e3273c3
8:10480620 RP1L1 G>A	8	10480620	10480620	G	A	RP1L1	c.92C>T	NM_178857.5	NP_849188.4:p.(Thr31Met)	NC_000008.10:g.10480620G>A	VUS	1 lab	af0e45b299
X:67273477 OPHN1 C>A	X	67273477	67273477	C	A	OPHN1	c.2324+10G>T	NM_002547.2	NP_002538.1:p.?	NC_000023.10:g.67273477C>A	(Likely) benign	1 lab	af11570fe2
17:48653396 CACNA1G G>C	17	48653396	48653396	G	C	CACNA1G	c.1633G>C	NM_018896.4	NP_061496.2:p.(Ala545Pro)	NC_000017.10:g.48653396G>C	(Likely) benign	1 lab	af11e58cb1
5:150704946 SLC36A2 G>A	5	150704946	150704946	G	A	SLC36A2	c.911C>T	NM_181776.2	NP_861441.2:p.(Ser304Phe)	NC_000005.9:g.150704946G>A	(Likely) benign	1 lab	af132d58fb
19:54301547 NLRP12 C>T	19	54301547	54301547	C	T	NLRP12	c.2880G>A	NM_001277126.1	NP_001264055.1:p.(Trp960Ter)	NC_000019.9:g.54301547C>T	(Likely) pathogenic	1 lab	af13a19b5b
3:142266778 ATR A>T	3	142266778	142266778	A	T	ATR	c.3172-26T>A	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142266778A>T	(Likely) benign	1 lab	af1a65c063
1:150776602 CTSK C>T	1	150776602	150776602	C	T	CTSK	c.513G>A	NM_000396.3	NP_000387.1:p.(Val171=)	NC_000001.10:g.150776602C>T	(Likely) benign	1 lab	af1c86043b
11:65635407 EFEMP2 C>T	11	65635407	65635407	C	T	EFEMP2	c.1095G>A	NM_016938.4	NP_058634.4:p.(Ala365=)	NC_000011.9:g.65635407C>T	(Likely) benign	1 lab	af1d6cbc61
X:38132658 RPGR T>C	X	38132658	38132658	T	C	RPGR	c.2222A>G	NM_000328.2	NP_000319.1:p.(Asp741Gly)	NC_000023.10:g.38132658T>C	(Likely) benign	1 lab	af1d9d42ef
16:89348280 ANKRD11 G>A	16	89348280	89348280	G	A	ANKRD11	c.4670C>T	NM_001256182.1	NP_001243111.1:p.(Pro1557Leu)	NC_000016.9:g.89348280G>A	(Likely) benign	1 lab	af210caef4
6:13228216 PHACTR1 C>T	6	13228216	13228216	C	T	PHACTR1	c.1155C>T	NM_030948.3	NP_112210.1:p.(Tyr385=)	NC_000006.11:g.13228216C>T	(Likely) benign	1 lab	af2295a408
19:48305614 TPRX1 T>C	19	48305614	48305614	T	C	TPRX1	c.654A>G	NM_198479.2	NP_940881.2:p.(Pro218=)	NC_000019.9:g.48305614T>C	VUS	1 lab	af23112e17
X:123197895 STAG2 G>A	X	123197895	123197895	G	A	STAG2	c.2019G>A	NM_001042749.2	NP_001036214.1:p.(Leu673=)	NC_000023.10:g.123197895G>A	(Likely) benign	1 lab	af2418806b
14:76958067 ESRRB C>T	14	76958067	76958067	C	T	ESRRB	c.1057+8C>T	NM_004452.3	NP_004443.3:p.?	NC_000014.8:g.76958067C>T	(Likely) benign	1 lab	af24372d84
21:47860930 PCNT C>T	21	47860930	47860930	C	T	PCNT	c.9556C>T	NM_006031.5	NP_006022.3:p.(Arg3186Trp)	NC_000021.8:g.47860930C>T	VUS	1 lab	af25007c00
11:124763902 ROBO4 T>TGCTCACTGGGTTCTTGGGTGGCTC	11	124763902	124763930	T	TGCTCACTGGGTTCTTGGGTGGCTC	ROBO4	c.1334_1357dup	NM_019055.5	NP_061928.4:p.(Arg445_Glu452dup)	NC_000011.9:g.124763907_124763930dup	VUS	1 lab	af2530b970
X:69255387 EDA C>T	X	69255387	69255387	C	T	EDA	c.1104C>T	NM_001399.4	NP_001390.1:p.(Asp368=)	NC_000023.10:g.69255387C>T	(Likely) benign	1 lab	af264049a4
4:123949348 AFG2A G>C	4	123949348	123949348	G	C	AFG2A	c.1877G>C	NM_145207.2	NP_660208.2:p.(Trp626Ser)	NC_000004.11:g.123949348G>C	VUS	1 lab	af26f60b60
X:109696066 RTL9 G>A	X	109696066	109696066	G	A	RTL9	c.2221G>A	NM_020769.2	NP_065820.1:p.(Ala741Thr)	NC_000023.10:g.109696066G>A	(Likely) benign	1 lab	af2a88f28e
X:49050788 SYP G>C	X	49050788	49050788	G	C	SYP	c.258C>G	NM_003179.2	NP_003170.1:p.(Thr86=)	NC_000023.10:g.49050788G>C	(Likely) benign	1 lab	af2de2b518
16:50745818 NOD2 G>A	16	50745818	50745818	G	A	NOD2	c.1996G>A	NM_022162.1	NP_071445.1:p.(Ala666Thr)	NC_000016.9:g.50745818G>A	(Likely) benign	1 lab	af2f786eb7
4:6303937 WFS1 G>T	4	6303937	6303937	G	T	WFS1	c.2415G>T	NM_006005.3	NP_005996.2:p.(Arg805=)	NC_000004.11:g.6303937G>T	(Likely) benign	1 lab	af3054716c
1:16474955 EPHA2 A>G	1	16474955	16474955	A	G	EPHA2	c.741T>C	NM_004431.4	NP_004422.2:p.(Cys247=)	NC_000001.10:g.16474955A>G	(Likely) benign	1 lab	af321d37cd
10:102510572 PAX2 TG>T	10	102510572	102510575	TG	T	PAX2	c.337del	NM_000278.5	NP_000269.3:p.(Glu113ArgfsTer46)	NC_000010.10:g.102510575del	(Likely) pathogenic	1 lab	af324ed808
3:100570787 ABI3BP T>TAA	3	100570787	100570801	T	TAA	ABI3BP	c.1160-5_1160-4dup	NM_015429.3	NP_056244.2:p.?	NC_000003.11:g.100570800_100570801dup	(Likely) benign	1 lab	af333a215a
6:135751022 AHI1 C>T	6	135751022	135751022	C	T	AHI1	c.2490G>A	NM_001350503.1	NP_001337432.1:p.(Arg830=)	NC_000006.11:g.135751022C>T	(Likely) benign	1 lab	af336d95dd
3:9517390 SETD5 C>T	3	9517390	9517390	C	T	SETD5	c.3944C>T	NM_001080517.2	NP_001073986.1:p.(Thr1315Met)	NC_000003.11:g.9517390C>T	VUS	1 lab	af37df78ec
12:103237496 PAH T>G	12	103237496	103237496	T	G	PAH	c.1127A>C	NM_000277.1	NP_000268.1:p.(Asn376Thr)	NC_000012.11:g.103237496T>G	(Likely) benign	1 lab	af3aae8c6a
17:29664899 NF1 G>C	17	29664899	29664899	G	C	NF1	c.6641+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664899G>C	(Likely) pathogenic	1 lab	af3b2b42ed
8:55538221 RP1 G>T	8	55538221	55538221	G	T	RP1	c.1779G>T	NM_006269.1	NP_006260.1:p.(Lys593Asn)	NC_000008.10:g.55538221G>T	VUS	1 lab	af3c994525
18:72346087 ZNF407 C>T	18	72346087	72346087	C	T	ZNF407	c.3112C>T	NM_017757.2	NP_060227.2:p.(Arg1038Trp)	NC_000018.9:g.72346087C>T	VUS	1 lab	af41d2a88f
6:116938232 RSPH4A C>G	6	116938232	116938232	C	G	RSPH4A	c.446C>G	NM_001010892.2	NP_001010892.1:p.(Thr149Ser)	NC_000006.11:g.116938232C>G	(Likely) benign	1 lab	af4221b12d
2:73717866 ALMS1 G>A	2	73717866	73717866	G	A	ALMS1	c.8783G>A	NM_015120.4	NP_055935.4:p.(Arg2928Gln)	NC_000002.11:g.73717866G>A	(Likely) benign	1 lab	af4413e0f7
13:52439738 CCDC70 A>G	13	52439738	52439738	A	G	CCDC70	c.224A>G	NM_031290.3	NP_112580.2:p.(Lys75Arg)	NC_000013.10:g.52439738A>G	(Likely) benign	1 lab	af4449f711
19:46444177 NOVA2 C>T	19	46444177	46444177	C	T	NOVA2	c.423G>A	NM_002516.4	NP_002507.1:p.(Thr141=)	NC_000019.9:g.46444177C>T	(Likely) benign	1 lab	af4505c856
5:118811548 HSD17B4 T>A	5	118811548	118811548	T	A	HSD17B4	c.407T>A	NM_001199291.2	NP_001186220.1:p.(Ile136Lys)	NC_000005.9:g.118811548T>A	VUS	1 lab	af45d800ae
17:29665749 NF1 G>GA	17	29665749	29665750	G	GA	NF1	c.6785dup	NM_000267.3	NP_000258.1:p.(Asp2262GlufsTer24)	NC_000017.10:g.29665750dup	(Likely) pathogenic	1 lab	af46071fa2
11:8118766 TUB T>A	11	8118766	8118766	T	A	TUB	c.853-9T>A	NM_003320.4	NP_003311.2:p.?	NC_000011.9:g.8118766T>A	VUS	1 lab	af4a1513ab
11:71152381 DHCR7 A>T	11	71152381	71152381	A	T	DHCR7	c.518T>A	NM_001360.2	NP_001351.2:p.(Ile173Asn)	NC_000011.9:g.71152381A>T	VUS	1 lab	af4bc56dc6
13:103510689 ERCC5 C>T	13	103510689	103510689	C	T	ERCC5	c.593C>T	NM_000123.3	NP_000114.2:p.(Pro198Leu)	NC_000013.10:g.103510689C>T	(Likely) benign	1 lab	af4cc923c3
17:41245937 BRCA1 G>A	17	41245937	41245937	G	A	BRCA1	c.1611C>T	NM_007294.3	NP_009225.1:p.(Asn537=)	NC_000017.10:g.41245937G>A	(Likely) benign	1 lab	af4cfe148f
8:55537935 RP1 A>C	8	55537935	55537935	A	C	RP1	c.1493A>C	NM_006269.1	NP_006260.1:p.(Tyr498Ser)	NC_000008.10:g.55537935A>C	VUS	1 lab	af4e62fa42
1:150307634 PRPF3 T>C	1	150307634	150307634	T	C	PRPF3	c.552T>C	NM_001350529.1	NP_001337458.1:p.(Pro184=)	NC_000001.10:g.150307634T>C	(Likely) benign	1 lab	af4f927098
11:57506500 TMX2 T>C	11	57506500	57506500	T	C	TMX2	c.321T>C	NM_001347895.1	NP_001334824.1:p.(Asp107=)	NC_000011.9:g.57506500T>C	(Likely) benign	1 lab	af5177cc8c
9:35739114 GBA2 A>G	9	35739114	35739114	A	G	GBA2	c.1688-8T>C	NM_001330660.1	NP_001317589.1:p.?	NC_000009.11:g.35739114A>G	(Likely) benign	1 lab	af51c7ebfc
16:2135073 TSC2 C>T	16	2135073	2135073	C	T	TSC2	c.4569+46C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135073C>T	(Likely) benign	1 lab	af51f520f5
7:97483955 ASNS C>T	7	97483955	97483955	C	T	ASNS	c.1175G>A	NM_183356.3	NP_899199.2:p.(Arg392Lys)	NC_000007.13:g.97483955C>T	VUS	1 lab	af5326fc74
5:150925609 FAT2 C>T	5	150925609	150925609	C	T	FAT2	c.5079G>A	NM_001447.2	NP_001438.1:p.(Glu1693=)	NC_000005.9:g.150925609C>T	(Likely) benign	1 lab	af54e9fc16
16:12571608 SNX29 T>C	16	12571608	12571608	T	C	SNX29	c.2070T>C	NM_032167.5	NP_115543.3:p.(Asn690=)	NC_000016.9:g.12571608T>C	(Likely) benign	1 lab	af588e1969
17:29684268 NF1 C>CT	17	29684268	29684274	C	CT	NF1	c.7807-13dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29684274dup	(Likely) benign	1 lab	af5a16bee3
2:98916665 VWA3B T>C	2	98916665	98916665	T	C	VWA3B	c.3406T>C	NM_144992.4	NP_659429.4:p.(Cys1136Arg)	NC_000002.11:g.98916665T>C	VUS	1 lab	af5be46fdb
6:32825853 PSMB9 G>A	6	32825853	32825853	G	A	PSMB9	c.332G>A	NM_002800.5	NP_002791.1:p.(Arg111Gln)	NC_000006.11:g.32825853G>A	VUS	1 lab	af60bfbe70
16:69726801 NFAT5 A>T	16	69726801	69726801	A	T	NFAT5	c.2791A>T	NM_138714.3	NP_619728.2:p.(Thr931Ser)	NC_000016.9:g.69726801A>T	(Likely) benign	1 lab	af61521fe3
8:72234066 EYA1 A>G	8	72234066	72234066	A	G	EYA1	c.321T>C	NM_000503.5	NP_000494.2:p.(Ala107=)	NC_000008.10:g.72234066A>G	(Likely) benign	1 lab	af633cb4b0
16:3823871 CREBBP T>C	16	3823871	3823871	T	C	CREBBP	c.2344A>G	NM_004380.2	NP_004371.2:p.(Asn782Asp)	NC_000016.9:g.3823871T>C	VUS	1 lab	af6580676a
1:19282510 IFFO2 G>A	1	19282510	19282510	G	A	IFFO2	c.317C>T	NM_001136265.2	NP_001129737.1:p.(Ala106Val)	NC_000001.10:g.19282510G>A	(Likely) benign	1 lab	af66b1de61
3:154802052 MME G>A	3	154802052	154802052	G	A	MME	c.96G>A	NM_007289.3	NP_009220.2:p.(Ser32=)	NC_000003.11:g.154802052G>A	(Likely) benign	1 lab	af67ec72f0
12:1993455 CACNA2D4 T>G	12	1993455	1993455	T	G	CACNA2D4	c.1305A>C	NM_172364.4	NP_758952.4:p.(Glu435Asp)	NC_000012.11:g.1993455T>G	(Likely) benign	1 lab	af68690bc6
15:40247856 EIF2AK4 T>C	15	40247856	40247856	T	C	EIF2AK4	c.630T>C	NM_001013703.3	NP_001013725.2:p.(Asp210=)	NC_000015.9:g.40247856T>C	(Likely) benign	1 lab	af69886531
14:64682034 SYNE2 A>G	14	64682034	64682034	A	G	SYNE2	c.19364A>G	NM_182914.2	NP_878918.2:p.(Tyr6455Cys)	NC_000014.8:g.64682034A>G	VUS	1 lab	af6b01dd29
17:78087166 GAA G>A	17	78087166	78087166	G	A	GAA	c.2189+1G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78087166G>A	(Likely) pathogenic	1 lab	af6c032b4b
9:35906598 HRCT1 A>T	9	35906598	35906598	A	T	HRCT1	c.314A>T	NM_001039792.2	NP_001034881.1:p.(His105Leu)	NC_000009.11:g.35906598A>T	(Likely) benign	1 lab	af6f1b27e5
11:124761378 ROBO4 G>T	11	124761378	124761378	G	T	ROBO4	c.1765C>A	NM_019055.5	NP_061928.4:p.(Leu589Met)	NC_000011.9:g.124761378G>T	(Likely) benign	1 lab	af6fd1506d
21:47811215 PCNT G>A	21	47811215	47811215	G	A	PCNT	c.4140G>A	NM_006031.5	NP_006022.3:p.(Ala1380=)	NC_000021.8:g.47811215G>A	(Likely) benign	1 lab	af6ffb8220
X:71825173 PHKA1 A>T	X	71825173	71825173	A	T	PHKA1	c.2763T>A	NM_002637.3	NP_002628.2:p.(Gly921=)	NC_000023.10:g.71825173A>T	(Likely) benign	1 lab	af7006c167
19:54301654 NLRP12 G>A	19	54301654	54301654	G	A	NLRP12	c.2773C>T	NM_001277126.1	NP_001264055.1:p.(Arg925Trp)	NC_000019.9:g.54301654G>A	VUS	1 lab	af71cf55ab
11:59612845 CBLIF C>T	11	59612845	59612845	C	T	CBLIF	c.79+3G>A	NM_005142.2	NP_005133.2:p.?	NC_000011.9:g.59612845C>T	(Likely) benign	1 lab	af725148f8
6:112513066 LAMA4 T>A	6	112513066	112513066	T	A	LAMA4	c.504-14A>T	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112513066T>A	(Likely) benign	1 lab	af7272cc33
17:29528472 NF1 T>G	17	29528472	29528472	T	G	NF1	c.1229T>G	NM_000267.3	NP_000258.1:p.(Leu410Arg)	NC_000017.10:g.29528472T>G	(Likely) pathogenic	1 lab	af72b6a733
12:102067253 MYBPC1 G>A	12	102067253	102067253	G	A	MYBPC1	c.2662G>A	NM_002465.3	NP_002456.2:p.(Asp888Asn)	NC_000012.11:g.102067253G>A	VUS	1 lab	af73d230ea
7:158109559 PTPRN2 C>T	7	158109559	158109559	C	T	PTPRN2	c.298G>A	NM_001308268.1	NP_001295197.1:p.(Val100Met)	NC_000007.13:g.158109559C>T	VUS	1 lab	af747a2f46
18:55221639 FECH C>T	18	55221639	55221639	C	T	FECH				NC_000018.9:g.55221639C>T	(Likely) pathogenic	1 lab	af74a51d8d
4:151821210 LRBA T>C	4	151821210	151821210	T	C	LRBA	c.1915A>G	NM_001364905.1	NP_001351834.1:p.(Lys639Glu)	NC_000004.11:g.151821210T>C	VUS	1 lab	af75d952a2
11:3848892 RHOG G>A	11	3848892	3848892	G	A	RHOG	c.477C>T	NM_001665.4	NP_001656.2:p.(Ala159=)	NC_000011.9:g.3848892G>A	(Likely) benign	1 lab	af75e47fa1
12:26777287 ITPR2 T>C	12	26777287	26777287	T	C	ITPR2	c.3067A>G	NM_002223.3	NP_002214.2:p.(Ile1023Val)	NC_000012.11:g.26777287T>C	(Likely) benign	1 lab	af788ec3e6
X:90691264 PABPC5 G>A	X	90691264	90691264	G	A	PABPC5	c.688G>A	NM_080832.2	NP_543022.1:p.(Val230Ile)	NC_000023.10:g.90691264G>A	(Likely) benign	1 lab	af7a662902
15:91303500 BLM G>A	15	91303500	91303500	G	A	BLM	c.86G>A	NM_001287248.1	NP_001274177.1:p.(Arg29Gln)	NC_000015.9:g.91303500G>A	VUS	1 lab	af7ae25405
10:101657895 DNMBP C>T	10	101657895	101657895	C	T	DNMBP	c.2868G>A	NM_015221.4	NP_056036.1:p.(Ala956=)	NC_000010.10:g.101657895C>T	(Likely) benign	1 lab	af7af253f1
6:31994800 C4B C>T	6	31994800	31994800	C	T	C4B	c.2493C>T	NM_001002029.3	NP_001002029.3:p.(Arg831=)	NC_000006.11:g.31994800C>T	VUS	1 lab	af7ba1aca2
6:32017869 TNXB G>A	6	32017869	32017869	G	A	TNXB	c.9339C>T	NM_019105.6	NP_061978.6:p.(Ile3113=)	NC_000006.11:g.32017869G>A	(Likely) benign	1 lab	af7cd51971
11:49053192 TRIM49B T>C	11	49053192	49053192	T	C	TRIM49B	c.41T>C	NM_001206626.1	NP_001193555.1:p.(Ile14Thr)	NC_000011.9:g.49053192T>C	VUS	1 lab	af7ced1e3e
19:6678459 C3 C>T	19	6678459	6678459	C	T	C3	c.4638G>A	NM_000064.2	NP_000055.2:p.(Lys1546=)	NC_000019.9:g.6678459C>T	(Likely) benign	1 lab	af7e2f7774
5:10415612 MARCHF6 G>A	5	10415612	10415612	G	A	MARCHF6	c.1979G>A	NM_005885.4	NP_005876.2:p.(Arg660His)	NC_000005.9:g.10415612G>A	VUS	1 lab	af7eb58b69
8:100836189 VPS13B C>A	8	100836189	100836189	C	A	VPS13B	c.9388C>A	NM_017890.4	NP_060360.3:p.(Pro3130Thr)	NC_000008.10:g.100836189C>A	(Likely) benign	1 lab	af7ef9ed64
19:38993236 RYR1 C>T	19	38993236	38993236	C	T	RYR1	c.7704C>T	NM_000540.2	NP_000531.2:p.(Leu2568=)	NC_000019.9:g.38993236C>T	(Likely) benign	1 lab	af7f1cf92f
X:17165559 REPS2 A>G	X	17165559	17165559	A	G	REPS2	c.1938A>G	NM_004726.2	NP_004717.2:p.(Ala646=)	NC_000023.10:g.17165559A>G	(Likely) benign	1 lab	af7f49bd8a
5:179263477 SQSTM1 T>A	5	179263477	179263477	T	A	SQSTM1	c.955T>A	NM_001142298.1	NP_001135770.1:p.(Ser319Thr)	NC_000005.9:g.179263477T>A	VUS	1 lab	af7fca3270
3:9517340 SETD5 C>A	3	9517340	9517340	C	A	SETD5	c.3600C>A	NM_001349451.1	NP_001336380.1:p.(Ser1200=)	NC_000003.11:g.9517340C>A	(Likely) benign	1 lab	af7fd9c5d0
1:47882491 FOXE3 G>A	1	47882491	47882491	G	A	FOXE3	c.504G>A	NM_012186.2	NP_036318.1:p.(Lys168=)	NC_000001.10:g.47882491G>A	(Likely) benign	1 lab	af80051ef8
X:84526283 ZNF711 C>T	X	84526283	84526283	C	T	ZNF711	c.1873C>T	NM_001330574.1	NP_001317503.1:p.(Arg625Cys)	NC_000023.10:g.84526283C>T	(Likely) benign	1 lab	af80bab448
19:54308603 NLRP12 A>G	19	54308603	54308603	A	G	NLRP12	c.2348T>C	NM_001277126.1	NP_001264055.1:p.(Val783Ala)	NC_000019.9:g.54308603A>G	(Likely) benign	1 lab	af8145c0a8
2:27668659 IFT172 T>C	2	27668659	27668659	T	C	IFT172	c.4867A>G	NM_015662.2	NP_056477.1:p.(Thr1623Ala)	NC_000002.11:g.27668659T>C	VUS	1 lab	af832db9d5
7:94218050 SGCE AATG>A	7	94218050	94218057	AATG	A	SGCE	c.1254-9_1254-7del	NM_003919.3	NP_003910.1:p.?	NC_000007.13:g.94218055_94218057del	(Likely) benign	1 lab	af85633538
6:145157517 UTRN T>G	6	145157517	145157517	T	G	UTRN	c.9905T>G	NM_007124.2	NP_009055.2:p.(Ile3302Ser)	NC_000006.11:g.145157517T>G	(Likely) benign	1 lab	af875e5a01
1:11345718 UBIAD1 G>A	1	11345718	11345718	G	A	UBIAD1	c.547G>A	NM_013319.2	NP_037451.1:p.(Val183Met)	NC_000001.10:g.11345718G>A	VUS	1 lab	af87641d79
X:37027051 FAM47C C>T	X	37027051	37027051	C	T	FAM47C	c.568C>T	NM_001013736.2	NP_001013758.1:p.(Pro190Ser)	NC_000023.10:g.37027051C>T	(Likely) benign	1 lab	af87d6eb8e
17:8792514 PIK3R5 G>A	17	8792514	8792514	G	A	PIK3R5	c.837C>T	NM_014308.3	NP_055123.2:p.(His279=)	NC_000017.10:g.8792514G>A	(Likely) benign	1 lab	af89026b57
15:25605476 UBE3A ATAAC>A	15	25605476	25605485	ATAAC	A	UBE3A	c.1753+50_1753+53del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25605482_25605485del	(Likely) benign	1 lab	af8b71808f
7:100483508 SRRT C>G	7	100483508	100483508	C	G	SRRT	c.1401C>G	NM_001128852.1	NP_001122324.1:p.(Thr467=)	NC_000007.13:g.100483508C>G	(Likely) benign	1 lab	af8b8cf52d
6:32063891 TNXB T>C	6	32063891	32063891	T	C	TNXB	c.1739A>G	NM_019105.6	NP_061978.6:p.(Tyr580Cys)	NC_000006.11:g.32063891T>C	VUS	1 lab	af8c6a986b
5:176721757 NSD1 C>T	5	176721757	176721757	C	T	NSD1	c.7388C>T	NM_022455.4	NP_071900.2:p.(Pro2463Leu)	NC_000005.9:g.176721757C>T	(Likely) benign	1 lab	af8f2dd3ae
X:47774462 ZNF81 A>G	X	47774462	47774462	A	G	ZNF81	c.417A>G	NM_007137.3	NP_009068.2:p.(Ile139Met)	NC_000023.10:g.47774462A>G	(Likely) benign	1 lab	af951a2898
1:11855279 MTHFR C>T	1	11855279	11855279	C	T	MTHFR	c.907G>A	NM_005957.4	NP_005948.3:p.(Val303Met)	NC_000001.10:g.11855279C>T	VUS	1 lab	af961f13a8
9:103002397 INVS CT>C	9	103002397	103002398	CT	C	INVS	c.672del	NM_014425.5	NP_055240.2:p.(Leu225PhefsTer10)	NC_000009.11:g.103002398del	(Likely) pathogenic	1 lab	af98a04a18
17:5456727 NLRP1 C>T	17	5456727	5456727	C	T	NLRP1	c.2507G>A	NM_033004.4	NP_127497.1:p.(Arg836His)	NC_000017.10:g.5456727C>T	(Likely) benign	1 lab	af9a453a66
16:68721547 CDH3 C>T	16	68721547	68721547	C	T	CDH3	c.1703C>T	NM_001317195.1	NP_001304124.1:p.(Thr568Met)	NC_000016.9:g.68721547C>T	VUS	1 lab	af9c9a379a
1:236914867 ACTN2 T>C	1	236914867	236914867	T	C	ACTN2	c.1130T>C	NM_001278344.1	NP_001265273.1:p.(Val377Ala)	NC_000001.10:g.236914867T>C	VUS	1 lab	af9cb2f7ec
11:6653811 DCHS1 G>A	11	6653811	6653811	G	A	DCHS1				NC_000011.9:g.6653811G>A	VUS	1 lab	af9d0e29ec
X:152773764 BGN T>C	X	152773764	152773764	T	C	BGN	c.968T>C	NM_001711.5	NP_001702.1:p.(Met323Thr)	NC_000023.10:g.152773764T>C	(Likely) benign	1 lab	af9d71ede4
16:89831395 FANCA C>T	16	89831395	89831395	C	T	FANCA	c.2681G>A	NM_001286167.2	NP_001273096.1:p.(Arg894Lys)	NC_000016.9:g.89831395C>T	(Likely) benign	1 lab	af9ed35a23
X:85212975 CHM C>T	X	85212975	85212975	C	T	CHM	c.825G>A	NM_000390.2	NP_000381.1:p.(Pro275=)	NC_000023.10:g.85212975C>T	(Likely) benign	1 lab	af9f0bb2ca
15:43109238 TTBK2 G>A	15	43109238	43109238	G	A	TTBK2	c.595C>T	NM_173500.3	NP_775771.3:p.(Arg199Trp)	NC_000015.9:g.43109238G>A	VUS	1 lab	af9fcd7f8f
3:77681666 ROBO2 C>T	3	77681666	77681666	C	T	ROBO2	c.3814C>T	NM_001290040.1	NP_001276969.1:p.(Arg1272Cys)	NC_000003.11:g.77681666C>T	VUS	1 lab	afa2443f14
17:29663897 NF1 ACTCT>A	17	29663897	29663903	ACTCT	A	NF1	c.6395_6398del	NM_001042492.3	NP_001035957.1:p.(Ser2132CysfsTer17)	NC_000017.10:g.29663900_29663903del	(Likely) pathogenic	1 lab	afa3ce6505
14:94849284 SERPINA1 G>A	14	94849284	94849284	G	A	SERPINA1	c.291C>T	NM_000295.4	NP_000286.3:p.(His97=)	NC_000014.8:g.94849284G>A	(Likely) benign	1 lab	afa3f21989
10:102587371 PAX2 C>T	10	102587371	102587371	C	T	PAX2	c.1249C>T	NM_003987.4	NP_003978.3:p.(His417Tyr)	NC_000010.10:g.102587371C>T	(Likely) benign	1 lab	afa54deee3
9:133759378 ABL1 CG>C	9	133759378	133759379	CG	C	ABL1	c.1702del	NM_005157.6	NP_005148.2:p.(Val568CysfsTer17)	NC_000009.11:g.133759379del	VUS	1 lab	afa68aba6f
17:29576103 NF1 CT>C	17	29576103	29576104	CT	C	NF1	c.4077del	NM_001042492.3	NP_001035957.1:p.(Gln1360AsnfsTer18)	NC_000017.10:g.29576104del	(Likely) pathogenic	1 lab	afa78133d6
2:241657568 KIF1A C>T	2	241657568	241657568	C	T	KIF1A	c.5232G>A	NM_001244008.1	NP_001230937.1:p.(Ala1744=)	NC_000002.11:g.241657568C>T	(Likely) benign	1 lab	afa9f5ace1
19:38609982 SIPA1L3 C>T	19	38609982	38609982	C	T	SIPA1L3	c.2328C>T	NM_015073.2	NP_055888.1:p.(Phe776=)	NC_000019.9:g.38609982C>T	(Likely) benign	1 lab	afacaef6ca
10:50732490 ERCC6 T>C	10	50732490	50732490	T	C	ERCC6	c.986A>G	NM_001346440.1	NP_001333369.1:p.(Lys329Arg)	NC_000010.10:g.50732490T>C	(Likely) benign	1 lab	afadddaffc
X:135593106 HTATSF1 A>G	X	135593106	135593106	A	G	HTATSF1	c.1202A>G	NM_001163280.1	NP_001156752.1:p.(His401Arg)	NC_000023.10:g.135593106A>G	VUS	1 lab	afae11924f
11:64416276 NRXN2 G>C	11	64416276	64416276	G	C	NRXN2	c.3213C>G	NM_015080.3	NP_055895.1:p.(Leu1071=)	NC_000011.9:g.64416276G>C	(Likely) benign	1 lab	afae46cdbe
1:197404057 CRB1 A>T	1	197404057	197404057	A	T	CRB1	c.2992A>T	NM_001257965.1	NP_001244894.1:p.(Ser998Cys)	NC_000001.10:g.197404057A>T	VUS	1 lab	afaeb614a6
11:102661164 MMP1 C>T	11	102661164	102661164	C	T	MMP1	c.1389G>A	NM_002421.3	NP_002412.1:p.(Trp463Ter)	NC_000011.9:g.102661164C>T	(Likely) pathogenic	1 lab	afaf6b2a09
14:97326936 VRK1 A>G	14	97326936	97326936	A	G	VRK1	c.932A>G	NM_003384.2	NP_003375.1:p.(Tyr311Cys)	NC_000014.8:g.97326936A>G	VUS	1 lab	afaf86a7bf
X:54020183 PHF8 T>C	X	54020183	54020183	T	C	PHF8	c.1477A>G	NM_015107.2	NP_055922.1:p.(Lys493Glu)	NC_000023.10:g.54020183T>C	VUS	1 lab	afb0fd7c3b
2:179444804 TTN C>T	2	179444804	179444804	C	T	TTN	c.67210G>A	NM_001267550.1	NP_001254479.1:p.(Val22404Met)	NC_000002.11:g.179444804C>T	VUS	1 lab	afb133f5a5
3:99998558 TBC1D23 T>C	3	99998558	99998558	T	C	TBC1D23	c.119T>C	NM_018309.4	NP_060779.2:p.(Ile40Thr)	NC_000003.11:g.99998558T>C	(Likely) benign	1 lab	afb2339d8b
17:79478983 ACTG1 C>T	17	79478983	79478983	C	T	ACTG1	c.309G>A	NM_001199954.2	NP_001186883.1:p.(Val103=)	NC_000017.10:g.79478983C>T	(Likely) benign	1 lab	afb30c3f95
2:220309817 SPEG C>T	2	220309817	220309817	C	T	SPEG	c.749C>T	NM_005876.4	NP_005867.3:p.(Ser250Phe)	NC_000002.11:g.220309817C>T	VUS	1 lab	afb312e88b
1:120307180 HMGCS2 G>A	1	120307180	120307180	G	A	HMGCS2	c.174C>T	NM_005518.3	NP_005509.1:p.(Ala58=)	NC_000001.10:g.120307180G>A	(Likely) benign	1 lab	afb3cba0aa
4:15529285 CC2D2A T>C	4	15529285	15529285	T	C	CC2D2A	c.1359+6T>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15529285T>C	(Likely) benign	1 lab	afb43b4947
X:151128381 GABRE G>T	X	151128381	151128381	G	T	GABRE	c.714C>A	NM_004961.3	NP_004952.2:p.(Asn238Lys)	NC_000023.10:g.151128381G>T	(Likely) benign	1 lab	afb50ee1c5
1:156145372 SEMA4A C>A	1	156145372	156145372	C	A	SEMA4A	c.1618C>A	NM_001193300.1	NP_001180229.1:p.(Arg540=)	NC_000001.10:g.156145372C>A	(Likely) benign	1 lab	afb64ba572
1:12409014 VPS13D C>T	1	12409014	12409014	C	T	VPS13D	c.9204C>T	NM_015378.4	NP_056193.2:p.(Ser3068=)	NC_000001.10:g.12409014C>T	(Likely) benign	1 lab	afb77406b4
3:142402975 PLS1 T>C	3	142402975	142402975	T	C	PLS1	c.707T>C	NM_001172312.1	NP_001165783.1:p.(Val236Ala)	NC_000003.11:g.142402975T>C	(Likely) benign	1 lab	afb77b577a
17:80885156 TBCD A>G	17	80885156	80885156	A	G	TBCD	c.2566A>G	NM_005993.4	NP_005984.3:p.(Met856Val)	NC_000017.10:g.80885156A>G	(Likely) benign	1 lab	afb94cf5c3
19:9324592 OR7D4 C>T	19	9324592	9324592	C	T	OR7D4	c.922G>A	NM_001005191.2	NP_001005191.1:p.(Ala308Thr)	NC_000019.9:g.9324592C>T	(Likely) benign	1 lab	afbb6d7c7f
1:1470808 TMEM240 G>A	1	1470808	1470808	G	A	TMEM240	c.453C>T	NM_001114748.1	NP_001108220.1:p.(Ala151=)	NC_000001.10:g.1470808G>A	(Likely) benign	1 lab	afbc126b6e
9:5065000 JAK2 G>A	9	5065000	5065000	G	A	JAK2	c.1174G>A	NM_001322194.1	NP_001309123.1:p.(Val392Met)	NC_000009.11:g.5065000G>A	(Likely) benign	1 lab	afbc61a87b
X:12734861 FRMPD4 G>C	X	12734861	12734861	G	C	FRMPD4	c.2283G>C	NM_014728.3	NP_055543.2:p.(Val761=)	NC_000023.10:g.12734861G>C	(Likely) benign	1 lab	afbcd69fe8
X:153171077 AVPR2 G>A	X	153171077	153171077	G	A	AVPR2	c.117G>A	NM_001146151.2	NP_001139623.1:p.(Ala39=)	NC_000023.10:g.153171077G>A	(Likely) benign	1 lab	afbf9b72a5
11:67160222 RAD9A A>G	11	67160222	67160222	A	G	RAD9A	c.203A>G	NM_004584.3	NP_004575.1:p.(Gln68Arg)	NC_000011.9:g.67160222A>G	(Likely) benign	1 lab	afc0a50cef
19:9082960 MUC16 G>A	19	9082960	9082960	G	A	MUC16	c.8855C>T	NM_024690.2	NP_078966.2:p.(Ser2952Leu)	NC_000019.9:g.9082960G>A	VUS	1 lab	afc179293f
19:16606869 CALR3 T>C	19	16606869	16606869	T	C	CALR3	c.72A>G	NM_145046.4	NP_659483.2:p.(Gln24=)	NC_000019.9:g.16606869T>C	VUS	1 lab	afca9ec6a9
6:33135598 COL11A2 C>T	6	33135598	33135598	C	T	COL11A2	c.3992G>A	NM_080680.2	NP_542411.2:p.(Arg1331Gln)	NC_000006.11:g.33135598C>T	VUS	1 lab	afcacf877c
18:21131596 NPC1 T>C	18	21131596	21131596	T	C	NPC1	c.1649A>G	NM_000271.4	NP_000262.2:p.(Tyr550Cys)	NC_000018.9:g.21131596T>C	(Likely) benign	1 lab	afcb3fa4c4
16:53690479 RPGRIP1L C>T	16	53690479	53690479	C	T	RPGRIP1L	c.1604G>A	NM_015272.4	NP_056087.2:p.(Arg535His)	NC_000016.9:g.53690479C>T	(Likely) benign	1 lab	afcbcf9452
4:649734 PDE6B C>T	4	649734	649734	C	T	PDE6B	c.998C>T	NM_000283.3	NP_000274.2:p.(Pro333Leu)	NC_000004.11:g.649734C>T	VUS	1 lab	afd21b4bcd
X:13734186 TRAPPC2 A>G	X	13734186	13734186	A	G	TRAPPC2	c.261T>C	NM_001011658.3	NP_001011658.1:p.(His87=)	NC_000023.10:g.13734186A>G	(Likely) benign	1 lab	afd4a634f1
4:22422615 ADGRA3 C>T	4	22422615	22422615	C	T	ADGRA3	c.1703G>A	NM_145290.3	NP_660333.2:p.(Arg568His)	NC_000004.11:g.22422615C>T	VUS	1 lab	afd6ae923c
18:72223587 CNDP1 G>GGCTGT	18	72223587	72223596	G	GGCTGT	CNDP1	c.44_48dup	NM_032649.5	NP_116038.4:p.(Leu17CysfsTer21)	NC_000018.9:g.72223592_72223596dup	(Likely) benign	1 lab	afd6e156e7
8:77895830 PEX2 A>T	8	77895830	77895830	A	T	PEX2	c.585T>A	NM_001172086.1	NP_001165557.1:p.(Leu195=)	NC_000008.10:g.77895830A>T	(Likely) benign	1 lab	afd9b965cc
7:87035593 ABCB4 C>CT	7	87035593	87035596	C	CT	ABCB4	c.3507+10dup	NM_018849.2	NP_061337.1:p.?	NC_000007.13:g.87035596dup	(Likely) benign	1 lab	afd9f3cf5e
15:64056322 HERC1 G>A	15	64056322	64056322	G	A	HERC1	c.999C>T	NM_003922.3	NP_003913.3:p.(Tyr333=)	NC_000015.9:g.64056322G>A	(Likely) benign	1 lab	afdb591399
16:31202349 FUS C>T	16	31202349	31202349	C	T	FUS	c.1459C>T	NM_004960.3	NP_004951.1:p.(Arg487Cys)	NC_000016.9:g.31202349C>T	VUS	1 lab	afdbbf039b
22:27026325 CRYBA4 G>A	22	27026325	27026325	G	A	CRYBA4	c.465G>A	NM_001886.2	NP_001877.1:p.(Pro155=)	NC_000022.10:g.27026325G>A	(Likely) benign	1 lab	afdcdb7eb3
6:160560691 SLC22A1 G>T	6	160560691	160560691	G	T	SLC22A1	c.1068G>T	NM_003057.3	NP_003048.1:p.(Thr356=)	NC_000006.11:g.160560691G>T	(Likely) benign	1 lab	afdd4d1746
20:39984582 LPIN3 C>T	20	39984582	39984582	C	T	LPIN3	c.1714C>T	NM_001301860.1	NP_001288789.1:p.(Pro572Ser)	NC_000020.10:g.39984582C>T	VUS	1 lab	afdd5f82b6
8:95879545 INTS8 T>C	8	95879545	95879545	T	C	INTS8	c.2394T>C	NM_017864.3	NP_060334.2:p.(Ile798=)	NC_000008.10:g.95879545T>C	(Likely) benign	1 lab	afdd84fa74
6:35479548 TULP1 G>C	6	35479548	35479548	G	C	TULP1	c.226C>G	NM_003322.5	NP_003313.3:p.(Pro76Ala)	NC_000006.11:g.35479548G>C	(Likely) benign	1 lab	afdd9b66f0
17:73625542 RECQL5 C>T	17	73625542	73625542	C	T	RECQL5	c.1961G>A	NM_004259.6	NP_004250.4:p.(Arg654Gln)	NC_000017.10:g.73625542C>T	VUS	1 lab	afddf5e26c
1:216138692 USH2A C>T	1	216138692	216138692	C	T	USH2A	c.7087G>A	NM_206933.2	NP_996816.2:p.(Val2363Ile)	NC_000001.10:g.216138692C>T	VUS	1 lab	afde82a42d
20:62319079 RTEL1 C>T	20	62319079	62319079	C	T	RTEL1	c.1437C>T	NM_001283009.1	NP_001269938.1:p.(Ser479=)	NC_000020.10:g.62319079C>T	(Likely) benign	1 lab	afdf0016fc
7:92761966 SAMD9L G>A	7	92761966	92761966	G	A	SAMD9L	c.3319C>T	NM_152703.4	NP_689916.2:p.(Arg1107Cys)	NC_000007.13:g.92761966G>A	VUS	1 lab	afe217745c
14:68353784 RAD51B G>T	14	68353784	68353784	G	T	RAD51B	c.619G>T	NM_133509.3	NP_598193.2:p.(Val207Leu)	NC_000014.8:g.68353784G>T	VUS	1 lab	afe232c3eb
2:234669750 UGT1A1 GT>G	2	234669750	234669755	GT	G	UGT1A1	c.822del	NM_000463.3	NP_000454.1:p.(Phe274LeufsTer92)	NC_000002.11:g.234669755del	(Likely) pathogenic	1 lab	afe270031c
3:111782442 TMPRSS7 A>T	3	111782442	111782442	A	T	TMPRSS7	c.1140A>T	NM_001042575.2	NP_001036040.2:p.(Val380=)	NC_000003.11:g.111782442A>T	(Likely) benign	1 lab	afe39a1fd2
15:23890472 MAGEL2 G>A	15	23890472	23890472	G	A	MAGEL2	c.2418C>T	NM_019066.4	NP_061939.3:p.(Gly806=)	NC_000015.9:g.23890472G>A	(Likely) benign	1 lab	afe4a225bd
22:21342407 LZTR1 G>A	22	21342407	21342407	G	A	LZTR1	c.509G>A	NM_006767.3	NP_006758.2:p.(Arg170Gln)	NC_000022.10:g.21342407G>A	VUS	1 lab	afe65babc4
1:151316757 RFX5 G>T	1	151316757	151316757	G	T	RFX5	c.474-3C>A	NM_000449.3	NP_000440.1:p.?	NC_000001.10:g.151316757G>T	VUS	1 lab	afe700c385
15:31295094 TRPM1 C>A	15	31295094	31295094	C	A	TRPM1	c.3860G>T	NM_001252020.1	NP_001238949.1:p.(Arg1287Leu)	NC_000015.9:g.31295094C>A	VUS	1 lab	afe770fa69
12:15803891 EPS8 G>A	12	15803891	15803891	G	A	EPS8	c.1300C>T	NM_004447.5	NP_004438.3:p.(Arg434Cys)	NC_000012.11:g.15803891G>A	VUS	1 lab	afeb8dc863
1:216017752 USH2A C>A	1	216017752	216017752	C	A	USH2A	c.9142G>T	NM_206933.2	NP_996816.2:p.(Gly3048Cys)	NC_000001.10:g.216017752C>A	VUS	1 lab	afebd6267b
X:53591674 HUWE1 C>G	X	53591674	53591674	C	G	HUWE1	c.6890G>C	NM_031407.6	NP_113584.3:p.(Gly2297Ala)	NC_000023.10:g.53591674C>G	VUS	1 lab	afec72ca8d
22:43032729 CYB5R3 C>G	22	43032729	43032729	C	G	CYB5R3	c.76G>C	NM_001129819.2	NP_001123291.1:p.(Asp26His)	NC_000022.10:g.43032729C>G	VUS	1 lab	afecedb4eb
1:151665032 SNX27 A>T	1	151665032	151665032	A	T	SNX27	c.1361A>T	NM_030918.5	NP_112180.4:p.(His454Leu)	NC_000001.10:g.151665032A>T	VUS	1 lab	afecf10a1e
X:1467416 IL3RA G>A	X	1467416	1467416	G	A	IL3RA	c.276G>A	NM_002183.3	NP_002174.1:p.(Thr92=)	NC_000023.10:g.1467416G>A	(Likely) benign	1 lab	afed16b288
17:29556186 NF1 C>T	17	29556186	29556186	C	T	NF1	c.2553C>T	NM_000267.3	NP_000258.1:p.(Cys851=)	NC_000017.10:g.29556186C>T	(Likely) benign	1 lab	afed20b7cf
5:177580722 NHP2 G>A	5	177580722	177580722	G	A	NHP2	c.97C>T	NM_017838.3	NP_060308.1:p.(Pro33Ser)	NC_000005.9:g.177580722G>A	(Likely) benign	1 lab	afeed12060
6:91271347 MAP3K7 A>C	6	91271347	91271347	A	C	MAP3K7	c.337T>G	NM_145331.2	NP_663304.1:p.(Tyr113Asp)	NC_000006.11:g.91271347A>C	VUS	1 lab	afef28267a
14:103369741 TRAF3 C>T	14	103369741	103369741	C	T	TRAF3	c.1110C>T	NM_145725.2	NP_663777.1:p.(Ser370=)	NC_000014.8:g.103369741C>T	(Likely) benign	1 lab	aff08420ba
20:49508914 ADNP G>A	20	49508914	49508914	G	A	ADNP	c.2337C>T	NM_001282531.2	NP_001269460.1:p.(Pro779=)	NC_000020.10:g.49508914G>A	(Likely) benign	1 lab	aff23ce84f
19:5082479 KDM4B C>A	19	5082479	5082479	C	A	KDM4B	c.882C>A	NM_015015.3	NP_055830.1:p.(Thr294=)	NC_000019.9:g.5082479C>A	(Likely) benign	1 lab	aff2c34334
2:175664868 CHN1 G>T	2	175664868	175664868	G	T	CHN1	c.1356C>A	NM_001822.5	NP_001813.1:p.(Ile452=)	NC_000002.11:g.175664868G>T	(Likely) benign	1 lab	aff4ee5591
12:64377783 SRGAP1 C>T	12	64377783	64377783	C	T	SRGAP1	c.124C>T	NM_020762.3	NP_065813.1:p.(Arg42Ter)	NC_000012.11:g.64377783C>T	(Likely) pathogenic	1 lab	aff516ee04
8:61654008 CHD7 T>C	8	61654008	61654008	T	C	CHD7				NC_000008.10:g.61654008T>C	VUS	1 lab	aff7768c4a
14:21875117 CHD8 AGGAC>A	14	21875117	21875121	AGGAC	A	CHD8	c.2801_2804del	NM_001170629.2	NP_001164100.1:p.(Cys934LeufsTer19)	NC_000014.8:g.21875118_21875121del	(Likely) pathogenic	1 lab	aff7baf419
12:109999314 MMAB T>C	12	109999314	109999314	T	C	MMAB	c.430A>G	NM_052845.3	NP_443077.1:p.(Thr144Ala)	NC_000012.11:g.109999314T>C	(Likely) benign	1 lab	aff8d27fc0
9:133914389 LAMC3 A>G	9	133914389	133914389	A	G	LAMC3	c.1115A>G	NM_006059.3	NP_006050.3:p.(Tyr372Cys)	NC_000009.11:g.133914389A>G	VUS	1 lab	aff90129ad
1:196952134 CFHR5 G>C	1	196952134	196952134	G	C	CFHR5	c.178G>C	NM_030787.3	NP_110414.1:p.(Val60Leu)	NC_000001.10:g.196952134G>C	(Likely) benign	1 lab	aff9c832a1
19:13397345 CACNA1A T>C	19	13397345	13397345	T	C	CACNA1A	c.3537A>G	NM_023035.2	NP_075461.2:p.(Pro1179=)	NC_000019.9:g.13397345T>C	(Likely) benign	1 lab	affa4b4afe
5:36986317 NIPBL A>T	5	36986317	36986317	A	T	NIPBL	c.3035A>T	NM_015384.4	NP_056199.2:p.(Asp1012Val)	NC_000005.9:g.36986317A>T	VUS	1 lab	affbec3596
3:12859250 CAND2 T>C	3	12859250	12859250	T	C	CAND2	c.2819T>C	NM_001162499.2	NP_001155971.1:p.(Leu940Ser)	NC_000003.11:g.12859250T>C	VUS	1 lab	affcc0f244
20:17479458 BFSP1 C>G	20	17479458	17479458	C	G	BFSP1	c.956+7G>C	NM_001195.4	NP_001186.1:p.?	NC_000020.10:g.17479458C>G	(Likely) benign	1 lab	affd2b677b
11:118375239 KMT2A C>T	11	118375239	118375239	C	T	KMT2A	c.8632C>T	NM_001197104.1	NP_001184033.1:p.(Leu2878=)	NC_000011.9:g.118375239C>T	(Likely) benign	1 lab	affd35c5e9
12:45822901 ANO6 CTG>C	12	45822901	45822905	CTG	C	ANO6	c.2543_2544del	NM_001025356.3	NP_001020527.2:p.(Val848GlufsTer32)	NC_000012.11:g.45822904_45822905del	(Likely) pathogenic	1 lab	affd5d570f
X:41075740 USP9X A>G	X	41075740	41075740	A	G	USP9X	c.5920A>G	NM_001039590.2	NP_001034679.2:p.(Ile1974Val)	NC_000023.10:g.41075740A>G	(Likely) benign	1 lab	affe58acf3
15:72648985 HEXA G>A	15	72648985	72648985	G	A	HEXA	c.260C>T	NM_001318825.1	NP_001305754.1:p.(Pro87Leu)	NC_000015.9:g.72648985G>A	(Likely) benign	1 lab	affe982dd6
5:149360165 SLC26A2 CTTG>C	5	149360165	149360178	CTTG	C	SLC26A2	c.1020_1022del	NM_000112.4	NP_000103.2:p.(Val341del)	NC_000005.9:g.149360176_149360178del	(Likely) pathogenic	1 lab	affeeb7b0f
5:149915263 NDST1 A>G	5	149915263	149915263	A	G	NDST1	c.1253A>G	NM_001543.4	NP_001534.1:p.(Glu418Gly)	NC_000005.9:g.149915263A>G	VUS	1 lab	afffc7e53a
X:148571969 IDS C>T	X	148571969	148571969	C	T	IDS	c.882G>A	NM_000202.7	NP_000193.1:p.(Arg294=)	NC_000023.10:g.148571969C>T	(Likely) benign	1 lab	b00128da2f
X:7177559 STS C>A	X	7177559	7177559	C	A	STS	c.567C>A	NM_000351.5	NP_000342.2:p.(Pro189=)	NC_000023.10:g.7177559C>A	(Likely) benign	1 lab	b00272829c
11:73753191 C2CD3 G>A	11	73753191	73753191	G	A	C2CD3	c.5568C>T	NM_001286577.1	NP_001273506.1:p.(Ser1856=)	NC_000011.9:g.73753191G>A	(Likely) benign	1 lab	b004273d69
9:2718789 KCNV2 G>A	9	2718789	2718789	G	A	KCNV2	c.1050G>A	NM_133497.3	NP_598004.1:p.(Leu350=)	NC_000009.11:g.2718789G>A	(Likely) benign	1 lab	b005369b94
20:10630934 JAG1 C>T	20	10630934	10630934	C	T	JAG1	c.1195G>A	NM_000214.3	NP_000205.1:p.(Val399Met)	NC_000020.10:g.10630934C>T	VUS	1 lab	b007c69f9a
9:138678302 KCNT1 G>A	9	138678302	138678302	G	A	KCNT1	c.3437G>A	NM_020822.2	NP_065873.2:p.(Arg1146His)	NC_000009.11:g.138678302G>A	VUS	1 lab	b0084a265c
1:53267794 ZYG11B A>G	1	53267794	53267794	A	G	ZYG11B	c.1678A>G	NM_024646.3	NP_078922.1:p.(Lys560Glu)	NC_000001.10:g.53267794A>G	VUS	1 lab	b0094e3c9e
22:50659329 TUBGCP6 G>A	22	50659329	50659329	G	A	TUBGCP6	c.3459C>T	NM_020461.3	NP_065194.2:p.(Pro1153=)	NC_000022.10:g.50659329G>A	(Likely) benign	1 lab	b009a99987
2:233635758 KCNJ13 A>G	2	233635758	233635758	A	G	KCNJ13	c.315T>C	NM_002242.4	NP_002233.2:p.(Ser105=)	NC_000002.11:g.233635758A>G	(Likely) benign	1 lab	b00af070df
2:1926667 MYT1L G>C	2	1926667	1926667	G	C	MYT1L	c.874C>G	NM_001329851.1	NP_001316780.1:p.(Gln292Glu)	NC_000002.11:g.1926667G>C	VUS	1 lab	b00b242a88
7:92077067 GATAD1 C>T	7	92077067	92077067	C	T	GATAD1	c.24C>T	NM_021167.4	NP_066990.3:p.(Thr8=)	NC_000007.13:g.92077067C>T	(Likely) benign	1 lab	b00c0848a8
12:132394811 MISSING A>G	12	132394811	132394811	A	G	MISSING				NC_000012.11:g.132394811A>G	(Likely) benign	1 lab	b00cd846a5
5:38919005 OSMR G>T	5	38919005	38919005	G	T	OSMR	c.1426G>T	NM_003999.2	NP_003990.1:p.(Asp476Tyr)	NC_000005.9:g.38919005G>T	(Likely) benign	1 lab	b00dc06969
17:79411495 MISSING G>A	17	79411495	79411495	G	A	MISSING				NC_000017.10:g.79411495G>A	VUS	1 lab	b0103ed899
17:4925701 KIF1C C>T	17	4925701	4925701	C	T	KIF1C	c.2325C>T	NM_006612.5	NP_006603.2:p.(Ala775=)	NC_000017.10:g.4925701C>T	(Likely) benign	1 lab	b0105bb55c
8:144994088 PLEC C>T	8	144994088	144994088	C	T	PLEC	c.10312G>A	NM_201380.3	NP_958782.1:p.(Glu3438Lys)	NC_000008.10:g.144994088C>T	(Likely) benign	1 lab	b0113b3463
X:114426584 RBMXL3 C>G	X	114426584	114426584	C	G	RBMXL3	c.2580C>G	NM_001145346.1	NP_001138818.1:p.(His860Gln)	NC_000023.10:g.114426584C>G	VUS	1 lab	b011979070
15:48703495 FBN1 G>T	15	48703495	48703495	G	T	FBN1	c.8308C>A	NM_000138.4	NP_000129.3:p.(His2770Asn)	NC_000015.9:g.48703495G>T	(Likely) benign	1 lab	b0125578cc
X:73744511 SLC16A2 C>A	X	73744511	73744511	C	A	SLC16A2	c.893C>A	NM_006517.4	NP_006508.2:p.(Thr298Asn)	NC_000023.10:g.73744511C>A	(Likely) benign	1 lab	b01899117b
16:84214963 TAF1C G>C	16	84214963	84214963	G	C	TAF1C	c.1213C>G	NM_005679.3	NP_005670.3:p.(Arg405Gly)	NC_000016.9:g.84214963G>C	VUS	1 lab	b018e34b78
5:1409232 SLC6A3 G>C	5	1409232	1409232	G	C	SLC6A3	c.1407C>G	NM_001044.4	NP_001035.1:p.(Ile469Met)	NC_000005.9:g.1409232G>C	VUS	1 lab	b019165588
X:15349561 PIGA C>T	X	15349561	15349561	C	T	PIGA	c.492G>A	NM_002641.3	NP_002632.1:p.(Ser164=)	NC_000023.10:g.15349561C>T	(Likely) benign	1 lab	b019989a5a
1:204943936 NFASC C>T	1	204943936	204943936	C	T	NFASC	c.1543C>T	NM_001005388.2	NP_001005388.2:p.(Arg515Cys)	NC_000001.10:g.204943936C>T	VUS	1 lab	b019db6d66
3:143100961 SLC9A9 TAAACAA>T	3	143100961	143100969	TAAACAA	T	SLC9A9	c.1470-11_1470-6del	NM_173653.4	NP_775924.1:p.?	NC_000003.11:g.143100964_143100969del	(Likely) benign	1 lab	b01a7096bb
6:31613372 BAG6 G>A	6	31613372	31613372	G	A	BAG6	c.946C>T	NM_004639.3	NP_004630.3:p.(Arg316Trp)	NC_000006.11:g.31613372G>A	VUS	1 lab	b01ae14f75
X:17710564 NHS G>A	X	17710564	17710564	G	A	NHS	c.828G>A	NM_001291867.1	NP_001278796.1:p.(Glu276=)	NC_000023.10:g.17710564G>A	(Likely) benign	1 lab	b01bc0a20c
8:87679357 CNGB3 T>C	8	87679357	87679357	T	C	CNGB3	c.648A>G	NM_019098.4	NP_061971.3:p.(Arg216=)	NC_000008.10:g.87679357T>C	(Likely) benign	1 lab	b01c341c62
9:117810773 TNC T>C	9	117810773	117810773	T	C	TNC	c.4618A>G	NM_002160.3	NP_002151.2:p.(Ile1540Val)	NC_000009.11:g.117810773T>C	VUS	1 lab	b01cd0c91d
2:186672788 FSIP2 T>C	2	186672788	186672788	T	C	FSIP2	c.18755T>C	NM_173651.3	NP_775922.3:p.(Ile6252Thr)	NC_000002.11:g.186672788T>C	VUS	1 lab	b01d08232a
X:153688795 PLXNA3 C>G	X	153688795	153688795	C	G	PLXNA3	c.272C>G	NM_017514.4	NP_059984.3:p.(Ala91Gly)	NC_000023.10:g.153688795C>G	(Likely) benign	1 lab	b01f26d362
1:877594 SAMD11 C>T	1	877594	877594	C	T	SAMD11	c.948C>T	NM_152486.3	NP_689699.2:p.(Pro316=)	NC_000001.10:g.877594C>T	(Likely) benign	1 lab	b01f821210
17:73830738 UNC13D G>C	17	73830738	73830738	G	C	UNC13D	c.2052C>G	NM_199242.2	NP_954712.1:p.(Leu684=)	NC_000017.10:g.73830738G>C	(Likely) benign	1 lab	b02008f81b
13:43180858 TNFSF11 A>G	13	43180858	43180858	A	G	TNFSF11	c.539A>G	NM_033012.3	NP_143026.1:p.(His180Arg)	NC_000013.10:g.43180858A>G	VUS	1 lab	b020187cdd
16:88787761 PIEZO1 G>A	16	88787761	88787761	G	A	PIEZO1	c.5481C>T	NM_001142864.4	NP_001136336.2:p.(Ala1827=)	NC_000016.9:g.88787761G>A	(Likely) benign	1 lab	b02090c326
12:132400526 MISSING G>A	12	132400526	132400526	G	A	MISSING				NC_000012.11:g.132400526G>A	VUS	1 lab	b020ada0bf
11:111715375 ALG9 G>A	11	111715375	111715375	G	A	ALG9	c.454C>T	NM_001352413.1	NP_001339342.1:p.(Leu152=)	NC_000011.9:g.111715375G>A	VUS	1 lab	b021fbc04b
22:24921715 UPB1 G>A	22	24921715	24921715	G	A	UPB1	c.1108G>A	NM_016327.2	NP_057411.1:p.(Ala370Thr)	NC_000022.10:g.24921715G>A	(Likely) benign	1 lab	b0222d842e
7:150878220 ASB10 G>A	7	150878220	150878220	G	A	ASB10	c.910C>T	NM_001142460.1	NP_001135932.2:p.(Arg304Cys)	NC_000007.13:g.150878220G>A	(Likely) benign	1 lab	b02243200f
2:73612995 ALMS1 A>T	2	73612995	73612995	A	T	ALMS1	c.-2A>T	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73612995A>T	(Likely) benign	1 lab	3e4d30e03d
1:27699708 FCN3 G>A	1	27699708	27699708	G	A	FCN3	c.312C>T	NM_003665.2	NP_003656.2:p.(Ser104=)	NC_000001.10:g.27699708G>A	(Likely) benign	1 lab	b024a25e9a
22:31957277 SFI1 G>C	22	31957277	31957277	G	C	SFI1	c.664G>C	NM_001007467.2	NP_001007468.1:p.(Val222Leu)	NC_000022.10:g.31957277G>C	(Likely) benign	1 lab	b025919a2f
14:68265109 ZFYVE26 C>T	14	68265109	68265109	C	T	ZFYVE26	c.1870G>A	NM_015346.3	NP_056161.2:p.(Ala624Thr)	NC_000014.8:g.68265109C>T	(Likely) benign	1 lab	b0259f2589
10:115338453 HABP2 G>A	10	115338453	115338453	G	A	HABP2	c.636G>A	NM_004132.4	NP_004123.1:p.(Gln212=)	NC_000010.10:g.115338453G>A	(Likely) benign	1 lab	b025b95732
17:78162169 CARD14 C>T	17	78162169	78162169	C	T	CARD14	c.676-7C>T	NM_001257970.1	NP_001244899.1:p.?	NC_000017.10:g.78162169C>T	(Likely) benign	1 lab	b026826b59
1:10689920 PEX14 T>C	1	10689920	10689920	T	C	PEX14	c.1010T>C	NM_004565.2	NP_004556.1:p.(Val337Ala)	NC_000001.10:g.10689920T>C	(Likely) benign	1 lab	b0281bf48a
9:136319663 ADAMTS13 G>A	9	136319663	136319663	G	A	ADAMTS13	c.3171G>A	NM_139025.4	NP_620594.1:p.(Ala1057=)	NC_000009.11:g.136319663G>A	(Likely) benign	1 lab	b028322a0b
7:33148918 RP9 C>T	7	33148918	33148918	C	T	RP9	c.67G>A	NM_203288.1	NP_976033.1:p.(Glu23Lys)	NC_000007.13:g.33148918C>T	VUS	1 lab	b02b0bca2c
16:4387138 GLIS2 G>A	16	4387138	4387138	G	A	GLIS2	c.1188G>A	NM_001318918.1	NP_001305847.1:p.(Gly396=)	NC_000016.9:g.4387138G>A	(Likely) benign	1 lab	b02b19d87e
3:38926829 SCN11A C>T	3	38926829	38926829	C	T	SCN11A	c.3014G>A	NM_001349253.1	NP_001336182.1:p.(Trp1005Ter)	NC_000003.11:g.38926829C>T	VUS	1 lab	b02cf51076
17:18054237 MYO15A G>T	17	18054237	18054237	G	T	MYO15A	c.7473+10G>T	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18054237G>T	(Likely) benign	1 lab	b02d2b1705
17:48264280 COL1A1 G>A	17	48264280	48264280	G	A	COL1A1	c.3535C>T	NM_000088.3	NP_000079.2:p.(Pro1179Ser)	NC_000017.10:g.48264280G>A	VUS	1 lab	b02d8909c4
12:53189289 KRT3 G>A	12	53189289	53189289	G	A	KRT3	c.538C>T	NM_057088.2	NP_476429.2:p.(Leu180=)	NC_000012.11:g.53189289G>A	(Likely) benign	1 lab	b02e37bfdc
2:48027535 MSH6 A>G	2	48027535	48027535	A	G	MSH6	c.2413A>G	NM_000179.2	NP_000170.1:p.(Ile805Val)	NC_000002.11:g.48027535A>G	(Likely) benign	1 lab	b02ffbd63d
7:23871756 STK31 A>G	7	23871756	23871756	A	G	STK31	c.2762A>G	NM_001260504.1	NP_001247433.1:p.(Asp921Gly)	NC_000007.13:g.23871756A>G	(Likely) benign	1 lab	b031fb4cff
2:179455116 TTN G>A	2	179455116	179455116	G	A	TTN	c.61336C>T	NM_001267550.1	NP_001254479.1:p.(Arg20446Cys)	NC_000002.11:g.179455116G>A	VUS	1 lab	b032e05363
10:127512219 BCCIP A>T	10	127512219	127512219	A	T	BCCIP	c.93A>T	NM_078469.2	NP_510869.1:p.(Glu31Asp)	NC_000010.10:g.127512219A>T	(Likely) benign	1 lab	b032f4e963
X:111195453 TRPC5 T>G	X	111195453	111195453	T	G	TRPC5	c.196A>C	NM_012471.2	NP_036603.1:p.(Met66Leu)	NC_000023.10:g.111195453T>G	(Likely) benign	1 lab	b034800f86
9:139840380 C8G G>A	9	139840380	139840380	G	A	C8G	c.276-1G>A	NM_000606.3	NP_000597.2:p.?	NC_000009.11:g.139840380G>A	(Likely) pathogenic	1 lab	b0360c17de
6:32016290 TNXB C>T	6	32016290	32016290	C	T	TNXB	c.9889G>A	NM_019105.6	NP_061978.6:p.(Ala3297Thr)	NC_000006.11:g.32016290C>T	VUS	1 lab	b038323a8d
17:2577357 PAFAH1B1 CTG>C	17	2577357	2577363	CTG	C	PAFAH1B1	c.680_681del	NM_000430.4	NP_000421.1:p.(Val227GlufsTer28)	NC_000017.10:g.2577362_2577363del	(Likely) pathogenic	1 lab	b0398517d7
22:26348328 MYO18B C>T	22	26348328	26348328	C	T	MYO18B	c.5912C>T	NM_001318245.1	NP_001305174.1:p.(Ala1971Val)	NC_000022.10:g.26348328C>T	VUS	1 lab	b04a2c7aa6
7:134253053 AKR1B15 G>A	7	134253053	134253053	G	A	AKR1B15	c.294G>A	NM_001080538.3	NP_001074007.2:p.(Arg98=)	NC_000007.13:g.134253053G>A	(Likely) benign	1 lab	b03a8ab7fa
X:19533144 MAP3K15 G>C	X	19533144	19533144	G	C	MAP3K15	c.236C>G	NM_001001671.3	NP_001001671.3:p.(Pro79Arg)	NC_000023.10:g.19533144G>C	VUS	1 lab	b03cfa7ddf
8:10466537 RP1L1 G>A	8	10466537	10466537	G	A	RP1L1	c.5071C>T	NM_178857.5	NP_849188.4:p.(Gln1691Ter)	NC_000008.10:g.10466537G>A	(Likely) pathogenic	1 lab	b03d086975
X:31140021 DMD T>C	X	31140021	31140021	T	C	DMD	c.3661A>G	NM_004021.2	NP_004012.1:p.(Met1221Val)	NC_000023.10:g.31140021T>C	VUS	1 lab	b03d6b8aa9
2:209203240 PIKFYVE G>A	2	209203240	209203240	G	A	PIKFYVE	c.4620G>A	NM_015040.3	NP_055855.2:p.(Ala1540=)	NC_000002.11:g.209203240G>A	(Likely) benign	1 lab	b03f452215
1:120508182 NOTCH2 A>G	1	120508182	120508182	A	G	NOTCH2	c.1575T>C	NM_024408.3	NP_077719.2:p.(Thr525=)	NC_000001.10:g.120508182A>G	(Likely) benign	1 lab	b041fa63ff
21:34635730 IFNAR2 C>T	21	34635730	34635730	C	T	IFNAR2	c.1473C>T	NM_001289125.1	NP_001276054.1:p.(Ser491=)	NC_000021.8:g.34635730C>T	(Likely) benign	1 lab	b043c4c46b
X:47485477 CFP T>A	X	47485477	47485477	T	A	CFP	c.1224A>T	NM_002621.2	NP_002612.1:p.(Thr408=)	NC_000023.10:g.47485477T>A	(Likely) benign	1 lab	b043faec49
X:47098854 USP11 C>T	X	47098854	47098854	C	T	USP11	c.520C>T	NM_004651.3	NP_004642.2:p.(His174Tyr)	NC_000023.10:g.47098854C>T	(Likely) benign	1 lab	b045a4353e
16:47695630 PHKB G>A	16	47695630	47695630	G	A	PHKB	c.2176G>A	NM_001031835.2	NP_001027005.1:p.(Asp726Asn)	NC_000016.9:g.47695630G>A	VUS	1 lab	b04a776afc
9:140846718 CACNA1B G>A	9	140846718	140846718	G	A	CACNA1B	c.967-8G>A	NM_000718.3	NP_000709.1:p.?	NC_000009.11:g.140846718G>A	(Likely) benign	1 lab	b04be36455
17:76490147 DNAH17 C>T	17	76490147	76490147	C	T	DNAH17	c.6379G>A	NM_173628.3	NP_775899.3:p.(Val2127Ile)	NC_000017.10:g.76490147C>T	(Likely) benign	1 lab	b04c681a63
17:29653021 NF1 C>CGTCTCCGCAGTCTA	17	29653021	29653035	C	CGTCTCCGCAGTCTA	NF1	c.4957_4970dup	NM_000267.3	NP_000258.1:p.(Tyr1657Ter)	NC_000017.10:g.29653022_29653035dup	(Likely) pathogenic	1 lab	b04cb2e9b0
X:23411058 PTCHD1 G>T	X	23411058	23411058	G	T	PTCHD1	c.1423G>T	NM_173495.2	NP_775766.2:p.(Ala475Ser)	NC_000023.10:g.23411058G>T	VUS	1 lab	b04dcfa38e
3:155551346 SLC33A1 G>C	3	155551346	155551346	G	C	SLC33A1	c.1177C>G	NM_004733.3	NP_004724.1:p.(Leu393Val)	NC_000003.11:g.155551346G>C	VUS	1 lab	b04e3d9b9d
X:153032944 PLXNB3 G>A	X	153032944	153032944	G	A	PLXNB3	c.731G>A	NM_001163257.1	NP_001156729.1:p.(Arg244His)	NC_000023.10:g.153032944G>A	VUS	1 lab	b051a042e8
11:64545490 SF1 G>A	11	64545490	64545490	G	A	SF1	c.375C>T	NM_001178030.1	NP_001171501.1:p.(Asp125=)	NC_000011.9:g.64545490G>A	(Likely) benign	1 lab	b05311aadc
20:10393827 MKKS T>C	20	10393827	10393827	T	C	MKKS	c.336A>G	NM_018848.3	NP_061336.1:p.(Thr112=)	NC_000020.10:g.10393827T>C	(Likely) benign	1 lab	b053588369
19:852979 ELANE C>T	19	852979	852979	C	T	ELANE	c.171C>T	NM_001972.2	NP_001963.1:p.(Ala57=)	NC_000019.9:g.852979C>T	(Likely) benign	1 lab	b054009706
3:52391672 DNAH1 C>T	3	52391672	52391672	C	T	DNAH1	c.3901C>T	NM_015512.4	NP_056327.4:p.(Arg1301Trp)	NC_000003.11:g.52391672C>T	VUS	1 lab	b054117276
Y:14870481 USP9Y G>A	Y	14870481	14870481	G	A	USP9Y	c.1675G>A	NM_004654.3	NP_004645.2:p.(Glu559Lys)	NC_000024.9:g.14870481G>A	VUS	1 lab	b054d8e19a
12:49424206 KMT2D G>A	12	49424206	49424206	G	A	KMT2D	c.13856C>T	NM_003482.3	NP_003473.3:p.(Pro4619Leu)	NC_000012.11:g.49424206G>A	VUS	1 lab	b055fc91e2
1:55527157 PCSK9 C>T	1	55527157	55527157	C	T	PCSK9	c.1791C>T	NM_174936.3	NP_777596.2:p.(His597=)	NC_000001.10:g.55527157C>T	(Likely) benign	1 lab	b0570d55a0
8:145740455 RECQL4 G>A	8	145740455	145740455	G	A	RECQL4	c.1485C>T	NM_004260.3	NP_004251.3:p.(Gly495=)	NC_000008.10:g.145740455G>A	VUS	1 lab	b058108aab
11:111796433 C11orf52 C>T	11	111796433	111796433	C	T	C11orf52	c.127C>T	NM_080659.3	NP_542390.2:p.(Pro43Ser)	NC_000011.9:g.111796433C>T	(Likely) benign	1 lab	b059de91cd
1:22158255 HSPG2 G>A	1	22158255	22158255	G	A	HSPG2	c.11245C>T	NM_001291860.1	NP_001278789.1:p.(His3749Tyr)	NC_000001.10:g.22158255G>A	VUS	1 lab	b05a1043f8
11:609714 PHRF1 G>C	11	609714	609714	G	C	PHRF1	c.4258G>C	NM_001286581.2	NP_001273510.1:p.(Ala1420Pro)	NC_000011.9:g.609714G>C	(Likely) benign	1 lab	b05ae19fdb
17:58740731 PPM1D CT>C	17	58740731	58740732	CT	C	PPM1D	c.1637del	NM_003620.4	NP_003611.1:p.(Leu546ArgfsTer2)	NC_000017.10:g.58740732del	(Likely) pathogenic	1 lab	b05bd26d2e
3:13383334 NUP210 C>T	3	13383334	13383334	C	T	NUP210	c.3142G>A	NM_024923.4	NP_079199.2:p.(Gly1048Ser)	NC_000003.11:g.13383334C>T	VUS	1 lab	b05dcf15cf
10:91465167 KIF20B A>G	10	91465167	91465167	A	G	KIF20B	c.116A>G	NM_001284259.1	NP_001271188.1:p.(His39Arg)	NC_000010.10:g.91465167A>G	(Likely) benign	1 lab	b05e667e64
5:482182 SLC9A3 C>G	5	482182	482182	C	G	SLC9A3	c.1446+1G>C	NM_004174.3	NP_004165.2:p.?	NC_000005.9:g.482182C>G	VUS	1 lab	b05f0f2c52
10:8115926 GATA3 G>A	10	8115926	8115926	G	A	GATA3	c.1275G>A	NM_001002295.1	NP_001002295.1:p.(Pro425=)	NC_000010.10:g.8115926G>A	(Likely) benign	1 lab	b060304c6b
1:41285087 KCNQ4 T>G	1	41285087	41285087	T	G	KCNQ4	c.777T>G	NM_004700.3	NP_004691.2:p.(Ala259=)	NC_000001.10:g.41285087T>G	(Likely) benign	1 lab	b06031dbe7
22:32266650 DEPDC5 C>T	22	32266650	32266650	C	T	DEPDC5	c.3405C>T	NM_001242896.2	NP_001229825.1:p.(Asp1135=)	NC_000022.10:g.32266650C>T	(Likely) benign	1 lab	b0606e483d
6:44270896 AARS2 A>G	6	44270896	44270896	A	G	AARS2	c.2162T>C	NM_020745.3	NP_065796.1:p.(Val721Ala)	NC_000006.11:g.44270896A>G	VUS	1 lab	b061c368a1
9:139390801 NOTCH1 G>A	9	139390801	139390801	G	A	NOTCH1	c.7390C>T	NM_017617.5	NP_060087.3:p.(Leu2464=)	NC_000009.11:g.139390801G>A	(Likely) benign	1 lab	b0651cd6de
8:10466604 RP1L1 G>C	8	10466604	10466604	G	C	RP1L1	c.5004C>G	NM_178857.5	NP_849188.4:p.(Ser1668Arg)	NC_000008.10:g.10466604G>C	VUS	1 lab	b0655bd1ae
16:89595977 SPG7 T>C	16	89595977	89595977	T	C	SPG7	c.851T>C	NM_003119.3	NP_003110.1:p.(Phe284Ser)	NC_000016.9:g.89595977T>C	(Likely) benign	1 lab	b0666467c5
15:30025403 TJP1 C>T	15	30025403	30025403	C	T	TJP1	c.1631G>A	NM_001330239.2	NP_001317168.1:p.(Arg544His)	NC_000015.9:g.30025403C>T	VUS	1 lab	b066f4b749
20:34067081 CEP250 C>T	20	34067081	34067081	C	T	CEP250	c.2120C>T	NM_007186.5	NP_009117.2:p.(Thr707Met)	NC_000020.10:g.34067081C>T	VUS	1 lab	b0670398c1
12:100660723 DEPDC4 A>G	12	100660723	100660723	A	G	DEPDC4	c.132T>C	NM_001319311.1	NP_001306240.1:p.(Asp44=)	NC_000012.11:g.100660723A>G	(Likely) benign	1 lab	b0674b8d23
14:60194256 RTN1 G>A	14	60194256	60194256	G	A	RTN1	c.1146C>T	NM_021136.2	NP_066959.1:p.(Asp382=)	NC_000014.8:g.60194256G>A	(Likely) benign	1 lab	b06934b91e
X:153578449 FLNA T>TC	X	153578449	153578453	T	TC	FLNA	c.7282dup	NM_001110556.2	NP_001104026.1:p.(Asp2428GlyfsTer22)	NC_000023.10:g.153578453dup	(Likely) pathogenic	1 lab	b0694dac14
5:158596794 RNF145 AAG>A	5	158596794	158596800	AAG	A	RNF145	c.829_830del	NM_001199383.2	NP_001186312.1:p.(Leu277PhefsTer31)	NC_000005.9:g.158596799_158596800del	VUS	1 lab	b06acf48c4
9:35547644 RUSC2 G>C	9	35547644	35547644	G	C	RUSC2	c.1126G>C	NM_001135999.1	NP_001129471.1:p.(Val376Leu)	NC_000009.11:g.35547644G>C	(Likely) benign	1 lab	b06d63ec86
2:112725746 MERTK C>T	2	112725746	112725746	C	T	MERTK	c.877C>T	NM_006343.2	NP_006334.2:p.(Arg293Cys)	NC_000002.11:g.112725746C>T	VUS	1 lab	b070a19a71
11:119214636 MFRP G>T	11	119214636	119214636	G	T	MFRP	c.1014C>A	NM_031433.3	NP_113621.1:p.(Ser338Arg)	NC_000011.9:g.119214636G>T	VUS	1 lab	b071941dbb
4:126411150 FAT4 T>C	4	126411150	126411150	T	C	FAT4	c.13179T>C	NM_001291303.1	NP_001278232.1:p.(Asp4393=)	NC_000004.11:g.126411150T>C	(Likely) benign	1 lab	b072357154
17:29586086 NF1 A>C	17	29586086	29586086	A	C	NF1	c.4306A>C	NM_000267.3	NP_000258.1:p.(Lys1436Gln)	NC_000017.10:g.29586086A>C	(Likely) pathogenic	1 lab	b0723887c0
17:1629636 WDR81 G>A	17	1629636	1629636	G	A	WDR81	c.1383G>A	NM_001163809.1	NP_001157281.1:p.(Ser461=)	NC_000017.10:g.1629636G>A	VUS	1 lab	b073dc9e5b
17:80915348 QTGAL C>T	17	80915348	80915348	C	T	QTGAL	c.214G>A	NM_001320743.1	NP_001307672.1:p.(Val72Ile)	NC_000017.10:g.80915348C>T	(Likely) benign	1 lab	b076e9f834
17:2570480 PAFAH1B1 T>C	17	2570480	2570480	T	C	PAFAH1B1	c.387T>C	NM_000430.3	NP_000421.1:p.(Asp129=)	NC_000017.10:g.2570480T>C	(Likely) benign	1 lab	b077903f8b
21:47831509 PCNT A>G	21	47831509	47831509	A	G	PCNT	c.5522A>G	NM_006031.5	NP_006022.3:p.(Asn1841Ser)	NC_000021.8:g.47831509A>G	(Likely) benign	1 lab	b0791a1b1c
11:78380280 TENM4 A>G	11	78380280	78380280	A	G	TENM4	c.7110T>C	NM_001098816.2	NP_001092286.2:p.(Phe2370=)	NC_000011.9:g.78380280A>G	(Likely) benign	1 lab	b07acd17d2
1:210856749 KCNH1 C>G	1	210856749	210856749	C	G	KCNH1	c.2844G>C	NM_172362.2	NP_758872.1:p.(Glu948Asp)	NC_000001.10:g.210856749C>G	(Likely) benign	1 lab	b07b04e918
6:107956505 SOBP G>A	6	107956505	107956505	G	A	SOBP	c.2457G>A	NM_018013.3	NP_060483.3:p.(Arg819=)	NC_000006.11:g.107956505G>A	(Likely) benign	1 lab	b07c041a50
15:63986666 HERC1 G>A	15	63986666	63986666	G	A	HERC1	c.5325C>T	NM_003922.3	NP_003913.3:p.(Ser1775=)	NC_000015.9:g.63986666G>A	(Likely) benign	1 lab	b07c2c0a1f
11:124750430 ROBO3 C>A	11	124750430	124750430	C	A	ROBO3	c.4075C>A	NM_022370.3	NP_071765.2:p.(Arg1359=)	NC_000011.9:g.124750430C>A	(Likely) benign	1 lab	b07d050ea9
8:145583366 SLC52A2 G>A	8	145583366	145583366	G	A	SLC52A2	c.214G>A	NM_001363118.1	NP_001350047.1:p.(Ala72Thr)	NC_000008.10:g.145583366G>A	VUS	1 lab	b080a5c38c
16:88501199 ZNF469 C>T	16	88501199	88501199	C	T	ZNF469				NC_000016.9:g.88501199C>T	VUS	1 lab	b080d6f272
15:52697517 MYO5A A>T	15	52697517	52697517	A	T	MYO5A	c.1020T>A	NM_000259.3	NP_000250.3:p.(Phe340Leu)	NC_000015.9:g.52697517A>T	VUS	1 lab	b082444ed5
12:81762930 PPFIA2 A>T	12	81762930	81762930	A	T	PPFIA2	c.1310T>A	NM_001220473.2	NP_001207402.1:p.(Leu437Ter)	NC_000012.11:g.81762930A>T	VUS	1 lab	b082cd79e4
17:79623520 PDE6G C>T	17	79623520	79623520	C	T	PDE6G	c.-60+3G>A	NM_002602.3	NP_002593.1:p.?	NC_000017.10:g.79623520C>T	(Likely) benign	1 lab	b0830975ac
6:24839478 RIPOR2 C>T	6	24839478	24839478	C	T	RIPOR2	c.1943G>A	NM_014722.4	NP_055537.2:p.(Ser648Asn)	NC_000006.11:g.24839478C>T	VUS	1 lab	b0834fae8b
1:155657965 YY1AP1 G>C	1	155657965	155657965	G	C	YY1AP1	c.291C>G	NM_001198903.1	NP_001185832.1:p.(Asp97Glu)	NC_000001.10:g.155657965G>C	VUS	1 lab	b0838750af
19:15284936 NOTCH3 C>G	19	15284936	15284936	C	G	NOTCH3	c.4679G>C	NM_000435.2	NP_000426.2:p.(Arg1560Pro)	NC_000019.9:g.15284936C>G	(Likely) benign	1 lab	b0840e1747
10:99332285 ANKRD2 T>C	10	99332285	99332285	T	C	ANKRD2	c.79T>C	NM_001291218.1	NP_001278147.1:p.(Trp27Arg)	NC_000010.10:g.99332285T>C	(Likely) benign	1 lab	b0842144fc
17:60042557 MED13 A>G	17	60042557	60042557	A	G	MED13	c.4654T>C	NM_005121.2	NP_005112.2:p.(Ser1552Pro)	NC_000017.10:g.60042557A>G	VUS	1 lab	b084d686bd
22:37628910 RAC2 G>A	22	37628910	37628910	G	A	RAC2	c.156C>T	NM_002872.3	NP_002863.1:p.(Asn52=)	NC_000022.10:g.37628910G>A	(Likely) benign	1 lab	b085931d0e
11:17594822 OTOG C>G	11	17594822	17594822	C	G	OTOG	c.2314C>G	NM_001277269.1	NP_001264198.1:p.(Arg772Gly)	NC_000011.9:g.17594822C>G	(Likely) benign	1 lab	b08760f8ea
17:63221477 RGS9 G>A	17	63221477	63221477	G	A	RGS9	c.1765G>A	NM_003835.3	NP_003826.2:p.(Gly589Ser)	NC_000017.10:g.63221477G>A	VUS	1 lab	b0879f4dac
1:5965686 NPHP4 C>A	1	5965686	5965686	C	A	NPHP4	c.1763+6G>T	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.5965686C>A	(Likely) benign	1 lab	d757d54810
10:55582223 PCDH15 G>A	10	55582223	55582223	G	A	PCDH15	c.5284C>T	NM_001142763.1	NP_001136235.1:p.(Pro1762Ser)	NC_000010.10:g.55582223G>A	(Likely) benign	1 lab	b088135e54
3:58120418 FLNB T>C	3	58120418	58120418	T	C	FLNB	c.4683T>C	NM_001164317.1	NP_001157789.1:p.(Tyr1561=)	NC_000003.11:g.58120418T>C	(Likely) benign	1 lab	b08a6b0434
16:89349170 ANKRD11 C>T	16	89349170	89349170	C	T	ANKRD11	c.3780G>A	NM_001256182.1	NP_001243111.1:p.(Ser1260=)	NC_000016.9:g.89349170C>T	(Likely) benign	1 lab	b08acc7741
3:4508691 SUMF1 A>T	3	4508691	4508691	A	T	SUMF1	c.239T>A	NM_182760.3	NP_877437.2:p.(Val80Glu)	NC_000003.11:g.4508691A>T	(Likely) benign	1 lab	b08b4c6ed9
13:26145837 ATP8A2 AACATGCGTGTGC>A	13	26145837	26145853	AACATGCGTGTGC	A	ATP8A2	c.1662+12_1662+23del	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26145842_26145853del	(Likely) benign	1 lab	b08b8686b1
15:74486213 STRA6 G>A	15	74486213	74486213	G	A	STRA6	c.765C>T	NM_001199042.1	NP_001185971.1:p.(Leu255=)	NC_000015.9:g.74486213G>A	(Likely) benign	1 lab	b08b9910c1
4:998108 IDUA GC>G	4	998108	998112	GC	G	IDUA	c.1893del	NM_000203.5	NP_000194.2:p.(Phe632SerfsTer?)	NC_000004.11:g.998112del	(Likely) pathogenic	1 lab	b08c021a1b
16:2129199 TSC2 T>C	16	2129199	2129199	T	C	TSC2	c.3131+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129199T>C	(Likely) pathogenic	1 lab	b08c1e5851
15:62283295 VPS13C T>C	15	62283295	62283295	T	C	VPS13C	c.1484-2A>G	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62283295T>C	(Likely) pathogenic	1 lab	b08db33466
12:40704236 LRRK2 C>T	12	40704236	40704236	C	T	LRRK2	c.4321C>T	NM_198578.3	NP_940980.3:p.(Arg1441Cys)	NC_000012.11:g.40704236C>T	(Likely) pathogenic	1 lab	b08e0f6c96
17:29653051 NF1 C>T	17	29653051	29653051	C	T	NF1	c.4986C>T	NM_000267.3	NP_000258.1:p.(Asn1662=)	NC_000017.10:g.29653051C>T	(Likely) benign	1 lab	b08f65be55
21:45755633 CFAP410 C>T	21	45755633	45755633	C	T	CFAP410	c.143+8G>A	NM_001271441.1	NP_001258370.1:p.?	NC_000021.8:g.45755633C>T	(Likely) benign	1 lab	b08fa72eff
7:155596143 SHH C>T	7	155596143	155596143	C	T	SHH	c.840G>A	NM_000193.3	NP_000184.1:p.(Ser280=)	NC_000007.13:g.155596143C>T	(Likely) benign	1 lab	b090ebbfae
X:135750304 ARHGEF6 G>T	X	135750304	135750304	G	T	ARHGEF6	c.2215C>A	NM_004840.2	NP_004831.1:p.(Leu739Met)	NC_000023.10:g.135750304G>T	(Likely) benign	1 lab	b092f9d766
X:107148848 MID2 T>C	X	107148848	107148848	T	C	MID2	c.1065T>C	NM_012216.3	NP_036348.2:p.(Ile355=)	NC_000023.10:g.107148848T>C	(Likely) benign	1 lab	b094318d56
4:110862128 EGF C>A	4	110862128	110862128	C	A	EGF	c.154C>A	NM_001963.5	NP_001954.2:p.(His52Asn)	NC_000004.11:g.110862128C>A	VUS	1 lab	b095ec3b97
5:149773123 TCOF1 A>G	5	149773123	149773123	A	G	TCOF1	c.3781+8A>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149773123A>G	(Likely) benign	1 lab	b096f0f961
15:23890884 MAGEL2 T>A	15	23890884	23890884	T	A	MAGEL2	c.2006A>T	NM_019066.4	NP_061939.3:p.(Gln669Leu)	NC_000015.9:g.23890884T>A	VUS	1 lab	b0981c4253
9:140676741 EHMT1 A>G	9	140676741	140676741	A	G	EHMT1	c.2276-2A>G	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140676741A>G	(Likely) pathogenic	1 lab	b09af30332
13:32914174 BRCA2 C>A	13	32914174	32914174	C	A	BRCA2	c.5682C>A	NM_000059.3	NP_000050.2:p.(Tyr1894Ter)	NC_000013.10:g.32914174C>A	(Likely) pathogenic	1 lab	b09d20c133
3:14183166 TMEM43 G>A	3	14183166	14183166	G	A	TMEM43	c.1074G>A	NM_024334.2	NP_077310.1:p.(Ser358=)	NC_000003.11:g.14183166G>A	(Likely) benign	1 lab	b09d2502f3
X:7177796 STS G>A	X	7177796	7177796	G	A	STS	c.825G>A	NM_001320750.1	NP_001307679.1:p.(Ala275=)	NC_000023.10:g.7177796G>A	(Likely) benign	1 lab	b09e22ef09
12:133198474 P2RX2 T>A	12	133198474	133198474	T	A	P2RX2	c.1410T>A	NM_170683.3	NP_733783.1:p.(Pro470=)	NC_000012.11:g.133198474T>A	(Likely) benign	1 lab	b09ff0c7f2
3:167413468 PDCD10 T>C	3	167413468	167413468	T	C	PDCD10	c.311A>G	NM_007217.3	NP_009148.2:p.(Asn104Ser)	NC_000003.11:g.167413468T>C	(Likely) benign	1 lab	b0a21d9b5d
3:189838446 P3H2 G>C	3	189838446	189838446	G	C	P3H2	c.75C>G	NM_018192.4	NP_060662.2:p.(Gly25=)	NC_000003.11:g.189838446G>C	(Likely) benign	1 lab	b0a37bc222
2:113819754 IL36RN G>A	2	113819754	113819754	G	A	IL36RN	c.169G>A	NM_012275.2	NP_036407.1:p.(Val57Ile)	NC_000002.11:g.113819754G>A	(Likely) benign	1 lab	b0a3ad09b0
9:140710461 EHMT1 C>T	9	140710461	140710461	C	T	EHMT1	c.3321C>T	NM_024757.4	NP_079033.4:p.(His1107=)	NC_000009.11:g.140710461C>T	(Likely) benign	1 lab	b0a3afbd90
7:117182112 CFTR TTAACGAC>T	7	117182112	117182121	TTAACGAC	T	CFTR	c.1162_1168del	NM_000492.4	NP_000483.3:p.(Thr388GlnfsTer3)	NC_000007.13:g.117182115_117182121del	(Likely) pathogenic	1 lab	b0a56eb826
16:2156402 PKD1 T>G	16	2156402	2156402	T	G	PKD1	c.7486A>C	NM_001009944.2	NP_001009944.2:p.(Thr2496Pro)	NC_000016.9:g.2156402T>G	VUS	1 lab	b0a575603c
2:179597593 TTN C>T	2	179597593	179597593	C	T	TTN	c.16310G>A	NM_001267550.1	NP_001254479.1:p.(Ser5437Asn)	NC_000002.11:g.179597593C>T	VUS	1 lab	b0a6ee438a
X:101138687 ZMAT1 T>A	X	101138687	101138687	T	A	ZMAT1	c.1199A>T	NM_001282400.1	NP_001269329.1:p.(Asp400Val)	NC_000023.10:g.101138687T>A	(Likely) benign	1 lab	b0a8709355
15:43821715 MAP1A A>G	15	43821715	43821715	A	G	MAP1A	c.8035+9A>G	NM_002373.6	NP_002364.5:p.?	NC_000015.9:g.43821715A>G	(Likely) benign	1 lab	b0aae67057
14:94756458 SERPINA10 A>T	14	94756458	94756458	A	T	SERPINA10	c.473T>A	NM_016186.2	NP_057270.1:p.(Leu158Gln)	NC_000014.8:g.94756458A>T	(Likely) benign	1 lab	b0ab1f0bf5
3:49160137 LAMB2 G>A	3	49160137	49160137	G	A	LAMB2	c.4573C>T	NM_002292.3	NP_002283.3:p.(Gln1525Ter)	NC_000003.11:g.49160137G>A	VUS	1 lab	b0aea5525d
7:75615356 POR C>T	7	75615356	75615356	C	T	POR	c.1785C>T	NM_001367562.1	NP_001354491.1:p.(Asn595=)	NC_000007.13:g.75615356C>T	(Likely) benign	1 lab	b0af5be3f4
9:123210196 CDK5RAP2 G>A	9	123210196	123210196	G	A	CDK5RAP2	c.3002C>T	NM_018249.5	NP_060719.4:p.(Thr1001Met)	NC_000009.11:g.123210196G>A	(Likely) benign	1 lab	b0b0ebc3f9
X:49063081 CACNA1F C>T	X	49063081	49063081	C	T	CACNA1F	c.5396G>A	NM_005183.3	NP_005174.2:p.(Arg1799Gln)	NC_000023.10:g.49063081C>T	VUS	1 lab	b0b329b851
10:55587191 PCDH15 T>TGGCGGA	10	55587191	55587202	T	TGGCGGA	PCDH15	c.4323_4328dup	NM_001354429.1	NP_001341358.1:p.(Pro1442_Pro1443dup)	NC_000010.10:g.55587197_55587202dup	VUS	1 lab	b0b393da17
15:90176075 KIF7 C>T	15	90176075	90176075	C	T	KIF7	c.2871G>A	NM_198525.2	NP_940927.2:p.(Glu957=)	NC_000015.9:g.90176075C>T	(Likely) benign	1 lab	b0b40d2139
22:19711431 GP1BB C>T	22	19711431	19711431	C	T	GP1BB	c.65C>T	NM_000407.4	NP_000398.1:p.(Pro22Leu)	NC_000022.10:g.19711431C>T	VUS	1 lab	b0b430a724
16:88725094 MVD G>C	16	88725094	88725094	G	C	MVD	c.105C>G	NM_002461.2	NP_002452.1:p.(Ile35Met)	NC_000016.9:g.88725094G>C	VUS	1 lab	b0b4645b4d
22:18562734 PEX26 T>C	22	18562734	18562734	T	C	PEX26	c.325T>C	NM_001127649.2	NP_001121121.1:p.(Tyr109His)	NC_000022.10:g.18562734T>C	(Likely) benign	1 lab	b0b4be610d
X:52842168 XAGE5 C>A	X	52842168	52842168	C	A	XAGE5	c.77C>A	NM_130775.2	NP_570131.1:p.(Pro26His)	NC_000023.10:g.52842168C>A	VUS	1 lab	b0b62ad66f
18:11610394 SLC35G4 T>C	18	11610394	11610394	T	C	SLC35G4	c.800T>C	NM_001282300.1	NP_001269229.1:p.(Phe267Ser)	NC_000018.9:g.11610394T>C	(Likely) benign	1 lab	b0b690513e
1:115229523 AMPD1 C>A	1	115229523	115229523	C	A	AMPD1	c.323G>T	NM_000036.2	NP_000027.2:p.(Arg108Leu)	NC_000001.10:g.115229523C>A	VUS	1 lab	b0b697de2c
14:99697779 BCL11B G>A	14	99697779	99697779	G	A	BCL11B	c.543C>T	NM_138576.3	NP_612808.1:p.(Leu181=)	NC_000014.8:g.99697779G>A	(Likely) benign	1 lab	b0b863cb5a
9:139401033 NOTCH1 GCC>G	9	139401033	139401038	GCC	G	NOTCH1	c.3958_3959del	NM_017617.5	NP_060087.3:p.(Gly1320HisfsTer26)	NC_000009.11:g.139401037_139401038del	(Likely) pathogenic	1 lab	b0b8fa7ac7
1:227172641 COQ8A A>G	1	227172641	227172641	A	G	COQ8A	c.1571A>G	NM_020247.4	NP_064632.2:p.(Gln524Arg)	NC_000001.10:g.227172641A>G	VUS	1 lab	b0ba5b1f4b
2:48026653 MSH6 A>G	2	48026653	48026653	A	G	MSH6	c.1531A>G	NM_000179.2	NP_000170.1:p.(Arg511Gly)	NC_000002.11:g.48026653A>G	VUS	1 lab	b0bc647f22
5:89918426 ADGRV1 G>A	5	89918426	89918426	G	A	ADGRV1	c.466G>A	NM_032119.4	NP_115495.3:p.(Ala156Thr)	NC_000005.9:g.89918426G>A	(Likely) benign	1 lab	b0bc8ada5a
12:50042107 FMNL3 T>G	12	50042107	50042107	T	G	FMNL3	c.2545A>C	NM_001367835.1	NP_001354764.1:p.(Lys849Gln)	NC_000012.11:g.50042107T>G	VUS	1 lab	b0bca34c29
16:27445681 IL21R C>T	16	27445681	27445681	C	T	IL21R	c.129C>T	NM_181079.4	NP_851565.4:p.(Pro43=)	NC_000016.9:g.27445681C>T	(Likely) benign	1 lab	b0be72c4aa
X:130408850 IGSF1 A>C	X	130408850	130408850	A	C	IGSF1	c.3489T>G	NM_001170961.1	NP_001164432.1:p.(Asp1163Glu)	NC_000023.10:g.130408850A>C	VUS	1 lab	b0c0027a66
11:47360215 MYBPC3 C>T	11	47360215	47360215	C	T	MYBPC3	c.2164G>A	NM_000256.3	NP_000247.2:p.(Glu722Lys)	NC_000011.9:g.47360215C>T	VUS	1 lab	b0c02442db
1:216270500 USH2A T>C	1	216270500	216270500	T	C	USH2A	c.4683A>G	NM_206933.2	NP_996816.2:p.(Ala1561=)	NC_000001.10:g.216270500T>C	(Likely) benign	1 lab	b0c10d7e3e
X:6451924 VCX3A T>C	X	6451924	6451924	T	C	VCX3A	c.423A>G	NM_016379.3	NP_057463.2:p.(Glu141=)	NC_000023.10:g.6451924T>C	(Likely) benign	1 lab	b0c26f459b
2:50699479 NRXN1 G>A	2	50699479	50699479	G	A	NRXN1	c.3321C>T	NM_001135659.2	NP_001129131.1:p.(Ser1107=)	NC_000002.11:g.50699479G>A	(Likely) benign	1 lab	b0c306061c
16:2110656 TSC2 G>A	16	2110656	2110656	G	A	TSC2	c.976-15G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110656G>A	(Likely) pathogenic	1 lab	b0c34ca0f5
13:50123688 RCBTB1 G>C	13	50123688	50123688	G	C	RCBTB1	c.951C>G	NM_018191.3	NP_060661.3:p.(Ser317=)	NC_000013.10:g.50123688G>C	(Likely) benign	1 lab	b0c4b8f711
X:51076284 NUDT10 C>G	X	51076284	51076284	C	G	NUDT10	c.467C>G	NM_153183.3	NP_694853.1:p.(Ala156Gly)	NC_000023.10:g.51076284C>G	(Likely) benign	1 lab	b0c5068b91
11:44331550 ALX4 G>A	11	44331550	44331550	G	A	ALX4	c.63C>T	NM_021926.4	NP_068745.2:p.(Tyr21=)	NC_000011.9:g.44331550G>A	(Likely) benign	1 lab	b0c52509a5
1:21564631 ECE1 C>T	1	21564631	21564631	C	T	ECE1	c.1349G>A	NM_001113347.1	NP_001106818.1:p.(Ser450Asn)	NC_000001.10:g.21564631C>T	(Likely) benign	1 lab	b0c5353bd3
10:73492073 CDH23 C>T	10	73492073	73492073	C	T	CDH23	c.4045C>T	NM_022124.5	NP_071407.4:p.(Arg1349Cys)	NC_000010.10:g.73492073C>T	VUS	1 lab	b0c8b99778
19:10270593 DNMT1 G>A	19	10270593	10270593	G	A	DNMT1	c.1047C>T	NM_001379.3	NP_001370.1:p.(His349=)	NC_000019.9:g.10270593G>A	(Likely) benign	1 lab	b0c8fd36a1
15:91295025 BLM G>A	15	91295025	91295025	G	A	BLM	c.808G>A	NM_001287246.1	NP_001274175.1:p.(Glu270Lys)	NC_000015.9:g.91295025G>A	(Likely) benign	1 lab	b0c90aeb03
7:92080043 GATAD1 C>T	7	92080043	92080043	C	T	GATAD1	c.404C>T	NM_021167.4	NP_066990.3:p.(Thr135Ile)	NC_000007.13:g.92080043C>T	VUS	1 lab	b0cae64184
X:101408963 BEX5 C>T	X	101408963	101408963	C	T	BEX5	c.275G>A	NM_001159560.1	NP_001153032.1:p.(Arg92His)	NC_000023.10:g.101408963C>T	(Likely) benign	1 lab	b0cafa783e
2:141777601 LRP1B A>G	2	141777601	141777601	A	G	LRP1B	c.1860T>C	NM_018557.2	NP_061027.2:p.(His620=)	NC_000002.11:g.141777601A>G	(Likely) benign	1 lab	b0cb033e5a
14:91770117 CCDC88C A>G	14	91770117	91770117	A	G	CCDC88C	c.3563T>C	NM_001080414.3	NP_001073883.2:p.(Leu1188Pro)	NC_000014.8:g.91770117A>G	VUS	1 lab	b0cd60b6b3
2:73651598 ALMS1 C>T	2	73651598	73651598	C	T	ALMS1	c.808C>T	NM_015120.4	NP_055935.4:p.(Arg270Ter)	NC_000002.11:g.73651598C>T	(Likely) pathogenic	1 lab	b0cddaf110
3:15126289 RBSN GAC>G	3	15126289	15126291	GAC	G	RBSN	c.549_550del	NM_022340.4	NP_071735.2:p.(Ser184TyrfsTer59)	NC_000003.11:g.15126290_15126291del	VUS	1 lab	b0cf6d5969
4:15995605 PROM1 A>C	4	15995605	15995605	A	C	PROM1	c.1740+5T>G	NM_001145847.1	NP_001139319.1:p.?	NC_000004.11:g.15995605A>C	(Likely) benign	1 lab	b0d140914b
16:50828308 CYLD G>A	16	50828308	50828308	G	A	CYLD	c.2655G>A	NM_015247.2	NP_056062.1:p.(Trp885Ter)	NC_000016.9:g.50828308G>A	(Likely) pathogenic	1 lab	b0d27ebaf8
19:4548280 SEMA6B C>G	19	4548280	4548280	C	G	SEMA6B	c.1449G>C	NM_032108.4	NP_115484.2:p.(Pro483=)	NC_000019.9:g.4548280C>G	(Likely) benign	1 lab	b0d2be7308
19:42853806 MEGF8 C>T	19	42853806	42853806	C	T	MEGF8	c.2454C>T	NM_001271938.2	NP_001258867.1:p.(Ser818=)	NC_000019.9:g.42853806C>T	(Likely) benign	1 lab	b0d3a567fa
X:118893353 SOWAHD A>G	X	118893353	118893353	A	G	SOWAHD	c.723A>G	NM_001105576.3	NP_001099046.1:p.(Gly241=)	NC_000023.10:g.118893353A>G	(Likely) benign	1 lab	b0d3b9e8b8
5:36679820 SLC1A3 A>G	5	36679820	36679820	A	G	SLC1A3	c.952A>G	NM_004172.4	NP_004163.3:p.(Thr318Ala)	NC_000005.9:g.36679820A>G	VUS	1 lab	b0d48bfcb2
20:61869937 BIRC7 C>T	20	61869937	61869937	C	T	BIRC7	c.548C>T	NM_139317.2	NP_647478.1:p.(Pro183Leu)	NC_000020.10:g.61869937C>T	VUS	1 lab	b0d4c2ef40
11:67286627 CABP2 G>A	11	67286627	67286627	G	A	CABP2	c.664C>T	NM_001318496.1	NP_001305425.1:p.(Arg222Ter)	NC_000011.9:g.67286627G>A	(Likely) pathogenic	1 lab	b0d53d9d75
5:14502771 TRIO G>T	5	14502771	14502771	G	T	TRIO	c.8411+5G>T	NM_007118.3	NP_009049.2:p.?	NC_000005.9:g.14502771G>T	VUS	1 lab	b0d6081d56
2:168107720 XIRP2 A>G	2	168107720	168107720	A	G	XIRP2	c.9818A>G	NM_152381.5	NP_689594.4:p.(His3273Arg)	NC_000002.11:g.168107720A>G	VUS	1 lab	b0d63f43c6
16:15802687 MYH11 G>A	16	15802687	15802687	G	A	MYH11	c.5819C>T	NM_001040113.1	NP_001035202.1:p.(Pro1940Leu)	NC_000016.9:g.15802687G>A	(Likely) benign	1 lab	b0d651e463
1:161519737 FCGR3A G>GC	1	161519737	161519739	G	GC	FCGR3A	c.104dup	NM_000569.7	NP_000560.6:p.(Ser36LeufsTer19)	NC_000001.10:g.161519739dup	VUS	1 lab	b0d7b8daf3
1:27023359 ARID1A C>T	1	27023359	27023359	C	T	ARID1A	c.465C>T	NM_006015.4	NP_006006.3:p.(Gly155=)	NC_000001.10:g.27023359C>T	VUS	1 lab	b0d929e3f4
5:82834348 VCAN C>T	5	82834348	82834348	C	T	VCAN	c.5526C>T	NM_004385.4	NP_004376.2:p.(Ala1842=)	NC_000005.9:g.82834348C>T	(Likely) benign	1 lab	b0dae0108b
X:53267387 IQSEC2 T>C	X	53267387	53267387	T	C	IQSEC2	c.3217A>G	NM_001111125.2	NP_001104595.1:p.(Thr1073Ala)	NC_000023.10:g.53267387T>C	VUS	1 lab	b0dbf2f549
17:19246940 B9D1 G>A	17	19246940	19246940	G	A	B9D1	c.694C>T	NM_001243473.1	NP_001230402.1:p.(His232Tyr)	NC_000017.10:g.19246940G>A	VUS	1 lab	b0de79885a
6:34386194 RPS10 G>A	6	34386194	34386194	G	A	RPS10	c.408C>T	NM_001203245.2	NP_001190174.1:p.(Ala136=)	NC_000006.11:g.34386194G>A	(Likely) benign	1 lab	b0e0ec07a4
17:29486103 NF1 CT>C	17	29486103	29486105	CT	C	NF1	c.282del	NM_001042492.3	NP_001035957.1:p.(Ala95LeufsTer8)	NC_000017.10:g.29486105del	(Likely) pathogenic	1 lab	b0e12ffa70
1:41454307 CTPS1 T>C	1	41454307	41454307	T	C	CTPS1	c.480T>C	NM_001905.4	NP_001896.2:p.(Ile160=)	NC_000001.10:g.41454307T>C	(Likely) benign	1 lab	b0e3ccd017
15:73615917 HCN4 G>A	15	73615917	73615917	G	A	HCN4	c.2517C>T	NM_005477.2	NP_005468.1:p.(Ser839=)	NC_000015.9:g.73615917G>A	(Likely) benign	1 lab	b0e4d191d7
X:32408223 DMD C>A	X	32408223	32408223	C	A	DMD	c.3940G>T	NM_004010.3	NP_004001.1:p.(Ala1314Ser)	NC_000023.10:g.32408223C>A	VUS	1 lab	b0e6c20fa6
15:28482209 HERC2 A>T	15	28482209	28482209	A	T	HERC2	c.3903T>A	NM_004667.5	NP_004658.3:p.(Pro1301=)	NC_000015.9:g.28482209A>T	(Likely) benign	1 lab	b0e77c2eb9
17:29652972 NF1 A>G	17	29652972	29652972	A	G	NF1	c.4907A>G	NM_000267.3	NP_000258.1:p.(Asp1636Gly)	NC_000017.10:g.29652972A>G	VUS	1 lab	b0e7e4fa6f
16:83704553 CDH13 C>T	16	83704553	83704553	C	T	CDH13	c.1401C>T	NM_001220488.1	NP_001207417.1:p.(Asn467=)	NC_000016.9:g.83704553C>T	(Likely) benign	1 lab	b0e8422de8
18:44089781 LOXHD1 G>A	18	44089781	44089781	G	A	LOXHD1	c.5214-3C>T	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44089781G>A	(Likely) benign	1 lab	b0e8a72e7d
6:5369157 FARS2 A>G	6	5369157	5369157	A	G	FARS2	c.354A>G	NM_001318872.1	NP_001305801.1:p.(Pro118=)	NC_000006.11:g.5369157A>G	(Likely) benign	1 lab	b0e8ab1940
1:237811735 RYR2 C>T	1	237811735	237811735	C	T	RYR2	c.7343-9C>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237811735C>T	(Likely) benign	1 lab	b0ea63331b
15:41570961 CHP1 C>T	15	41570961	41570961	C	T	CHP1	c.412-4C>T	NM_007236.5	NP_009167.1:p.?	NC_000015.9:g.41570961C>T	(Likely) benign	1 lab	b0eba23c46
1:154246361 HAX1 G>C	1	154246361	154246361	G	C	HAX1	c.428G>C	NM_006118.3	NP_006109.2:p.(Gly143Ala)	NC_000001.10:g.154246361G>C	VUS	1 lab	b0eebcd7d5
5:180278091 ZFP62 T>C	5	180278091	180278091	T	C	ZFP62	c.305A>G	NM_152283.4	NP_689496.4:p.(Asn102Ser)	NC_000005.9:g.180278091T>C	(Likely) benign	1 lab	b0f0daba77
16:2114414 TSC2 G>T	16	2114414	2114414	G	T	TSC2	c.1585G>T	NM_000548.3	NP_000539.2:p.(Asp529Tyr)	NC_000016.9:g.2114414G>T	VUS	1 lab	b0f1995d06
3:46003862 FYCO1 C>T	3	46003862	46003862	C	T	FYCO1	c.3292G>A	NM_024513.3	NP_078789.2:p.(Ala1098Thr)	NC_000003.11:g.46003862C>T	VUS	1 lab	b0f1c47064
X:38031266 SRPX T>G	X	38031266	38031266	T	G	SRPX	c.394A>C	NM_006307.4	NP_006298.1:p.(Lys132Gln)	NC_000023.10:g.38031266T>G	VUS	1 lab	b0f3761f7a
5:37310678 NUP155 G>A	5	37310678	37310678	G	A	NUP155	c.2427C>T	NM_004298.3	NP_004289.1:p.(Ser809=)	NC_000005.9:g.37310678G>A	(Likely) benign	1 lab	b0f4d20ccb
6:146350863 GRM1 C>T	6	146350863	146350863	C	T	GRM1	c.210C>T	NM_001278064.1	NP_001264993.1:p.(Ile70=)	NC_000006.11:g.146350863C>T	(Likely) benign	1 lab	b0f549e095
8:133900356 TG G>A	8	133900356	133900356	G	A	TG	c.2304G>A	NM_003235.4	NP_003226.4:p.(Gln768=)	NC_000008.10:g.133900356G>A	(Likely) benign	1 lab	b0f580e190
10:124787047 ACADSB T>C	10	124787047	124787047	T	C	ACADSB	c.43-6825T>C	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124787047T>C	(Likely) benign	1 lab	b0f5d3be3e
12:112924274 PTPN11 T>C	12	112924274	112924274	T	C	PTPN11	c.1232T>C	NM_001330437.1	NP_001317366.1:p.(Leu411Pro)	NC_000012.11:g.112924274T>C	VUS	1 lab	b0f5f6ed2f
8:105459547 DPYS C>T	8	105459547	105459547	C	T	DPYS	c.603+5G>A	NM_001385.2	NP_001376.1:p.?	NC_000008.10:g.105459547C>T	VUS	1 lab	b0f6a7ec8c
15:48713852 FBN1 C>A	15	48713852	48713852	C	A	FBN1	c.7602G>T	NM_000138.4	NP_000129.3:p.(Leu2534=)	NC_000015.9:g.48713852C>A	(Likely) benign	1 lab	b0f784d9bc
8:87951832 CNBD1 A>G	8	87951832	87951832	A	G	CNBD1	c.281A>G	NM_173538.2	NP_775809.1:p.(Asn94Ser)	NC_000008.10:g.87951832A>G	(Likely) benign	1 lab	b0f7da0b34
8:48689431 PRKDC T>C	8	48689431	48689431	T	C	PRKDC	c.12156A>G	NM_006904.6	NP_008835.5:p.(Ala4052=)	NC_000008.10:g.48689431T>C	(Likely) benign	1 lab	b0f7e8722b
16:29675548 SPN C>A	16	29675548	29675548	C	A	SPN	c.499C>A	NM_001030288.3	NP_001025459.1:p.(Pro167Thr)	NC_000016.9:g.29675548C>A	(Likely) benign	1 lab	b0f8ab5d22
1:228404377 OBSCN G>A	1	228404377	228404377	G	A	OBSCN	c.2351G>A	NM_001271223.2	NP_001258152.2:p.(Arg784His)	NC_000001.10:g.228404377G>A	VUS	1 lab	b0f9c14f77
4:5667239 EVC2 C>T	4	5667239	5667239	C	T	EVC2	c.765+3G>A	NM_001166136.1	NP_001159608.1:p.?	NC_000004.11:g.5667239C>T	(Likely) benign	1 lab	b0faadad59
12:51065168 DIP2B C>T	12	51065168	51065168	C	T	DIP2B	c.627C>T	NM_173602.2	NP_775873.2:p.(Ala209=)	NC_000012.11:g.51065168C>T	(Likely) benign	1 lab	b0fb7a59c0
11:111915875 DLAT T>C	11	111915875	111915875	T	C	DLAT	c.1211T>C	NM_001931.4	NP_001922.2:p.(Val404Ala)	NC_000011.9:g.111915875T>C	(Likely) benign	1 lab	b0fe1b5db0
11:67815210 TCIRG1 G>T	11	67815210	67815210	G	T	TCIRG1				NC_000011.9:g.67815210G>T	VUS	1 lab	b0ffb4a8be
3:3189640 TRNT1 A>G	3	3189640	3189640	A	G	TRNT1	c.1107A>G	NM_001367321.1	NP_001354250.1:p.(Gln369=)	NC_000003.11:g.3189640A>G	(Likely) benign	1 lab	b10197c998
X:135480086 ADGRG4 C>T	X	135480086	135480086	C	T	ADGRG4	c.8231C>T	NM_153834.3	NP_722576.3:p.(Ala2744Val)	NC_000023.10:g.135480086C>T	(Likely) benign	1 lab	b10261e1ed
15:65370111 KBTBD13 G>T	15	65370111	65370111	G	T	KBTBD13	c.958G>T	NM_001101362.2	NP_001094832.1:p.(Val320Leu)	NC_000015.9:g.65370111G>T	(Likely) benign	1 lab	b102aa1f6f
5:77512017 AP3B1 C>T	5	77512017	77512017	C	T	AP3B1	c.501G>A	NM_001271769.1	NP_001258698.1:p.(Pro167=)	NC_000005.9:g.77512017C>T	(Likely) benign	1 lab	b103420b1b
17:39977220 FKBP10 G>A	17	39977220	39977220	G	A	FKBP10	c.1278G>A	NM_021939.3	NP_068758.3:p.(Gln426=)	NC_000017.10:g.39977220G>A	(Likely) benign	1 lab	b103f00705
6:152787181 SYNE1 T>G	6	152787181	152787181	T	G	SYNE1	c.1665A>C	NM_182961.3	NP_892006.3:p.(Gln555His)	NC_000006.11:g.152787181T>G	VUS	1 lab	b104043931
16:5140562 EEF2KMT G>C	16	5140562	5140562	G	C	EEF2KMT	c.347C>G	NM_201400.3	NP_958802.1:p.(Ser116Trp)	NC_000016.9:g.5140562G>C	VUS	1 lab	b105741a1d
1:16464480 EPHA2 G>A	1	16464480	16464480	G	A	EPHA2	c.1180C>T	NM_004431.4	NP_004422.2:p.(Arg394Cys)	NC_000001.10:g.16464480G>A	VUS	1 lab	b106eda18f
19:37904458 ZNF569 T>C	19	37904458	37904458	T	C	ZNF569	c.625A>G	NM_001330482.1	NP_001317411.1:p.(Met209Val)	NC_000019.9:g.37904458T>C	VUS	1 lab	b1088a2f9c
16:68725678 CDH3 G>A	16	68725678	68725678	G	A	CDH3	c.1851G>A	NM_001317195.1	NP_001304124.1:p.(Val617=)	NC_000016.9:g.68725678G>A	(Likely) benign	1 lab	b108c59b70
1:94495191 ABCA4 A>G	1	94495191	94495191	A	G	ABCA4	c.4353-4T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94495191A>G	(Likely) benign	1 lab	b109ba0b78
3:4836816 ITPR1 C>T	3	4836816	4836816	C	T	ITPR1	c.6831C>T	NM_001168272.1	NP_001161744.1:p.(Ala2277=)	NC_000003.11:g.4836816C>T	(Likely) benign	1 lab	b10a34279d
3:122662356 SEMA5B T>C	3	122662356	122662356	T	C	SEMA5B	c.355A>G	NM_001256346.1	NP_001243275.1:p.(Thr119Ala)	NC_000003.11:g.122662356T>C	(Likely) benign	1 lab	b10c417228
1:111146262 KCNA2 A>G	1	111146262	111146262	A	G	KCNA2	c.1143T>C	NM_004974.3	NP_004965.1:p.(Val381=)	NC_000001.10:g.111146262A>G	(Likely) benign	1 lab	b10c4fe628
21:40720841 HMGN1 C>T	21	40720841	40720841	C	T	HMGN1	c.3G>A	NM_004965.7	NP_004956.5:p.(Met1?)	NC_000021.8:g.40720841C>T	VUS	1 lab	b10c80eb28
19:3979320 EEF2 G>A	19	3979320	3979320	G	A	EEF2	c.1713+7C>T	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3979320G>A	(Likely) benign	1 lab	b10ce9b591
9:135786954 TSC1 C>T	9	135786954	135786954	C	T	TSC1	c.915G>A	NM_000368.4	NP_000359.1:p.(Gly305=)	NC_000009.11:g.135786954C>T	(Likely) benign	1 lab	b1110cf966
9:103059278 INVS G>A	9	103059278	103059278	G	A	INVS	c.2866G>A	NM_014425.4	NP_055240.2:p.(Glu956Lys)	NC_000009.11:g.103059278G>A	(Likely) benign	1 lab	b1127b24d7
6:26093432 HFE C>T	6	26093432	26093432	C	T	HFE	c.978C>T	NM_000410.3	NP_000401.1:p.(Phe326=)	NC_000006.11:g.26093432C>T	(Likely) benign	1 lab	b1127c0f60
12:103352171 ASCL1 CGCAGCAGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCAGCAGCA	C	ASCL1	c.172_186del	NM_004316.4	NP_004307.2:p.(Gln58_Gln62del)	NC_000012.11:g.103352194_103352208del	(Likely) benign	1 lab	b113bf618e
16:28944651 CD19 C>A	16	28944651	28944651	C	A	CD19	c.656C>A	NM_001178098.1	NP_001171569.1:p.(Pro219His)	NC_000016.9:g.28944651C>A	VUS	1 lab	b11423d580
10:134680879 CFAP46 C>A	10	134680879	134680879	C	A	CFAP46	c.4743G>T	NM_001200049.3	NP_001186978.2:p.(Lys1581Asn)	NC_000010.10:g.134680879C>A	VUS	1 lab	b1144760f5
12:49431226 KMT2D T>C	12	49431226	49431226	T	C	KMT2D	c.9913A>G	NM_003482.3	NP_003473.3:p.(Ser3305Gly)	NC_000012.11:g.49431226T>C	VUS	1 lab	b114722d96
1:197112880 ASPM T>G	1	197112880	197112880	T	G	ASPM	c.502A>C	NM_018136.4	NP_060606.3:p.(Arg168=)	NC_000001.10:g.197112880T>G	(Likely) benign	1 lab	b116842e92
15:85326421 ZNF592 C>T	15	85326421	85326421	C	T	ZNF592	c.515C>T	NM_014630.2	NP_055445.2:p.(Pro172Leu)	NC_000015.9:g.85326421C>T	VUS	1 lab	b1169a5385
3:50230936 GNAT1 C>T	3	50230936	50230936	C	T	GNAT1	c.292-3C>T	NM_144499.2	NP_653082.1:p.?	NC_000003.11:g.50230936C>T	(Likely) benign	1 lab	b117ed4d6f
14:102446205 DYNC1H1 G>A	14	102446205	102446205	G	A	DYNC1H1	c.668G>A	NM_001376.4	NP_001367.2:p.(Arg223His)	NC_000014.8:g.102446205G>A	VUS	1 lab	b1184675cf
5:131308551 ACSL6 T>C	5	131308551	131308551	T	C	ACSL6	c.1204A>G	NM_001009185.2	NP_001009185.1:p.(Ile402Val)	NC_000005.9:g.131308551T>C	VUS	1 lab	b119244e4c
11:64821742 NAALADL1 G>A	11	64821742	64821742	G	A	NAALADL1	c.972C>T	NM_005468.3	NP_005459.2:p.(Asp324=)	NC_000011.9:g.64821742G>A	(Likely) benign	1 lab	b11a70acd9
1:186062319 HMCN1 C>T	1	186062319	186062319	C	T	HMCN1	c.9941C>T	NM_031935.2	NP_114141.2:p.(Thr3314Met)	NC_000001.10:g.186062319C>T	(Likely) benign	1 lab	b11b681092
16:1561117 IFT140 A>AGCC	16	1561117	1561128	A	AGCC	IFT140	c.4214_4216dup	NM_014714.3	NP_055529.2:p.(Arg1405dup)	NC_000016.9:g.1561126_1561128dup	VUS	1 lab	b11d1c64dc
6:26092992 HFE C>T	6	26092992	26092992	C	T	HFE	c.696C>T	NM_000410.3	NP_000401.1:p.(Pro232=)	NC_000006.11:g.26092992C>T	(Likely) benign	1 lab	b11d8e59dd
5:82817020 VCAN T>G	5	82817020	82817020	T	G	VCAN	c.2895T>G	NM_004385.4	NP_004376.2:p.(Thr965=)	NC_000005.9:g.82817020T>G	(Likely) benign	1 lab	b11e39c6fb
16:2129160 TSC2 C>T	16	2129160	2129160	C	T	TSC2	c.3094C>T	NM_000548.3	NP_000539.2:p.(Arg1032Ter)	NC_000016.9:g.2129160C>T	(Likely) pathogenic	1 lab	b11e428af0
2:29294425 PCARE G>A	2	29294425	29294425	G	A	PCARE	c.2703C>T	NM_001029883.2	NP_001025054.1:p.(Thr901=)	NC_000002.11:g.29294425G>A	(Likely) benign	1 lab	b11f46e881
22:37154368 IFT27 C>T	22	37154368	37154368	C	T	IFT27	c.548G>A	NM_001177701.2	NP_001171172.1:p.(Arg183Gln)	NC_000022.10:g.37154368C>T	(Likely) benign	1 lab	b11fd46dc5
1:47716981 STIL G>A	1	47716981	47716981	G	A	STIL	c.3691C>T	NM_001282936.1	NP_001269865.1:p.(Arg1231Ter)	NC_000001.10:g.47716981G>A	VUS	1 lab	b120d34419
7:128481250 FLNC G>A	7	128481250	128481250	G	A	FLNC	c.1840G>A	NM_001458.4	NP_001449.3:p.(Ala614Thr)	NC_000007.13:g.128481250G>A	VUS	1 lab	b120efef62
3:4693828 ITPR1 C>T	3	4693828	4693828	C	T	ITPR1	c.877C>T	NM_001168272.1	NP_001161744.1:p.(Arg293Trp)	NC_000003.11:g.4693828C>T	VUS	1 lab	b121e2c937
11:73748676 C2CD3 G>C	11	73748676	73748676	G	C	C2CD3	c.5728C>G	NM_001286577.1	NP_001273506.1:p.(Pro1910Ala)	NC_000011.9:g.73748676G>C	VUS	1 lab	b1238c21e1
18:67817936 RTTN C>T	18	67817936	67817936	C	T	RTTN	c.1963G>A	NM_173630.3	NP_775901.3:p.(Val655Met)	NC_000018.9:g.67817936C>T	VUS	1 lab	b1252fcdae
1:152281137 FLG G>A	1	152281137	152281137	G	A	FLG	c.6225C>T	NM_002016.1	NP_002007.1:p.(Ser2075=)	NC_000001.10:g.152281137G>A	(Likely) benign	1 lab	b12555bbf4
11:118133741 MPZL2 G>A	11	118133741	118133741	G	A	MPZL2	c.130C>T	NM_005797.4	NP_005788.1:p.(Arg44Trp)	NC_000011.9:g.118133741G>A	VUS	1 lab	b125c0504c
2:241537386 CAPN10 G>A	2	241537386	241537386	G	A	CAPN10	c.1825G>A	NM_023083.3	NP_075571.1:p.(Ala609Thr)	NC_000002.11:g.241537386G>A	(Likely) benign	1 lab	b126797ea8
1:210329101 SYT14 G>A	1	210329101	210329101	G	A	SYT14	c.1200G>A	NM_001146262.2	NP_001139734.1:p.(Ser400=)	NC_000001.10:g.210329101G>A	(Likely) benign	1 lab	b12712331a
17:62006631 CD79B T>C	17	62006631	62006631	T	C	CD79B	c.645A>G	NM_000626.3	NP_000617.1:p.(Thr215=)	NC_000017.10:g.62006631T>C	(Likely) benign	1 lab	b1290f58f3
17:48263370 COL1A1 G>A	17	48263370	48263370	G	A	COL1A1	c.4017C>T	NM_000088.3	NP_000079.2:p.(Gly1339=)	NC_000017.10:g.48263370G>A	(Likely) benign	1 lab	b12930f603
4:122749376 BBS7 G>T	4	122749376	122749376	G	T	BBS7	c.1939C>A	NM_176824.2	NP_789794.1:p.(His647Asn)	NC_000004.11:g.122749376G>T	VUS	1 lab	b12a1b981c
15:45404876 DUOX2 G>A	15	45404876	45404876	G	A	DUOX2	c.201C>T	NM_014080.4	NP_054799.4:p.(Asp67=)	NC_000015.9:g.45404876G>A	(Likely) benign	1 lab	b12a398027
10:102738064 SEMA4G T>A	10	102738064	102738064	T	A	SEMA4G	c.448T>A	NM_017893.3	NP_060363.2:p.(Phe150Ile)	NC_000010.10:g.102738064T>A	VUS	1 lab	b12afb8d98
17:7462934 TNFSF13 T>C	17	7462934	7462934	T	C	TNFSF13	c.259-7T>C	NM_003808.3	NP_003799.1:p.?	NC_000017.10:g.7462934T>C	(Likely) benign	1 lab	b12b769d22
2:227895304 COL4A4 C>T	2	227895304	227895304	C	T	COL4A4	c.3828G>A	NM_000092.4	NP_000083.3:p.(Gly1276=)	NC_000002.11:g.227895304C>T	(Likely) benign	1 lab	b12b91f7ae
6:3225788 TUBB2B C>T	6	3225788	3225788	C	T	TUBB2B	c.535G>A	NM_178012.4	NP_821080.1:p.(Val179Met)	NC_000006.11:g.3225788C>T	VUS	1 lab	b12d09e42a
2:202964510 KIAA2012 G>C	2	202964510	202964510	G	C	KIAA2012	c.1003G>C	NM_001277372.2	NP_001264301.2:p.(Asp335His)	NC_000002.11:g.202964510G>C	(Likely) benign	1 lab	b12d91e501
X:130219566 ARHGAP36 A>G	X	130219566	130219566	A	G	ARHGAP36	c.960A>G	NM_144967.4	NP_659404.2:p.(Leu320=)	NC_000023.10:g.130219566A>G	(Likely) benign	1 lab	b12d931376
2:209163443 PIKFYVE C>T	2	209163443	209163443	C	T	PIKFYVE	c.990C>T	NM_015040.3	NP_055855.2:p.(Pro330=)	NC_000002.11:g.209163443C>T	(Likely) benign	1 lab	b12de2845a
11:103116085 DYNC2H1 C>T	11	103116085	103116085	C	T	DYNC2H1	c.10045C>T	NM_001080463.1	NP_001073932.1:p.(Arg3349Ter)	NC_000011.9:g.103116085C>T	(Likely) pathogenic	1 lab	b12e799633
16:2546695 TBC1D24 G>A	16	2546695	2546695	G	A	TBC1D24	c.546G>A	NM_001199107.1	NP_001186036.1:p.(Thr182=)	NC_000016.9:g.2546695G>A	(Likely) benign	1 lab	b12e9b853b
1:228113162 WNT9A C>T	1	228113162	228113162	C	T	WNT9A	c.154G>A	NM_003395.4	NP_003386.1:p.(Ala52Thr)	NC_000001.10:g.228113162C>T	(Likely) benign	1 lab	b12ee94df1
2:108924902 SULT1C2 C>T	2	108924902	108924902	C	T	SULT1C2	c.906C>T	NM_176825.2	NP_789795.1:p.(Asn302=)	NC_000002.11:g.108924902C>T	(Likely) benign	1 lab	b130988cae
1:114443951 AP4B1 A>G	1	114443951	114443951	A	G	AP4B1	c.524T>C	NM_006594.4	NP_006585.2:p.(Val175Ala)	NC_000001.10:g.114443951A>G	VUS	1 lab	b13124d54e
14:102918775 TECPR2 G>A	14	102918775	102918775	G	A	TECPR2	c.3451G>A	NM_014844.4	NP_055659.2:p.(Val1151Ile)	NC_000014.8:g.102918775G>A	(Likely) benign	1 lab	b1350c9429
5:131915666 RAD50 G>C	5	131915666	131915666	G	C	RAD50	c.664G>C	NM_005732.3	NP_005723.2:p.(Glu222Gln)	NC_000005.9:g.131915666G>C	VUS	1 lab	b1359c7f51
1:37947368 ZC3H12A A>G	1	37947368	37947368	A	G	ZC3H12A	c.750A>G	NM_001323550.1	NP_001310479.1:p.(Gln250=)	NC_000001.10:g.37947368A>G	VUS	1 lab	b13626543c
11:4112565 STIM1 G>C	11	4112565	4112565	G	C	STIM1	c.1913G>C	NM_001277961.1	NP_001264890.1:p.(Arg638Pro)	NC_000011.9:g.4112565G>C	VUS	1 lab	b13704918b
1:99422183 PLPPR5 G>A	1	99422183	99422183	G	A	PLPPR5	c.352C>T	NM_001037317.2	NP_001032394.1:p.(Arg118Ter)	NC_000001.10:g.99422183G>A	VUS	1 lab	b138cd759f
5:89947429 ADGRV1 G>A	5	89947429	89947429	G	A	ADGRV1	c.3298G>A	NM_032119.4	NP_115495.3:p.(Val1100Ile)	NC_000005.9:g.89947429G>A	VUS	1 lab	b138ebac77
11:6646545 DCHS1 G>A	11	6646545	6646545	G	A	DCHS1				NC_000011.9:g.6646545G>A	(Likely) benign	1 lab	b13abde21c
15:42178254 SPTBN5 C>G	15	42178254	42178254	C	G	SPTBN5	c.1199G>C	NM_016642.4	NP_057726.4:p.(Trp400Ser)	NC_000015.9:g.42178254C>G	VUS	1 lab	b13b093ebe
1:11856260 MTHFR C>T	1	11856260	11856260	C	T	MTHFR	c.903+3G>A	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11856260C>T	(Likely) benign	1 lab	b13bedffa1
13:32912257 BRCA2 A>G	13	32912257	32912257	A	G	BRCA2	c.3765A>G	NM_000059.3	NP_000050.2:p.(Val1255=)	NC_000013.10:g.32912257A>G	(Likely) benign	1 lab	b13c761e22
2:166909378 SCN1A C>T	2	166909378	166909378	C	T	SCN1A	c.678G>A	NM_001202435.2	NP_001189364.1:p.(Thr226=)	NC_000002.11:g.166909378C>T	(Likely) benign	1 lab	b13c80f8f0
X:13775770 OFD1 C>T	X	13775770	13775770	C	T	OFD1	c.992-9C>T	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13775770C>T	(Likely) benign	1 lab	b13f333256
15:51204289 AP4E1 A>G	15	51204289	51204289	A	G	AP4E1	c.165A>G	NM_007347.4	NP_031373.2:p.(Leu55=)	NC_000015.9:g.51204289A>G	(Likely) benign	1 lab	b13fa8489d
X:32563334 DMD G>A	X	32563334	32563334	G	A	DMD	c.1741C>T	NM_004010.3	NP_004001.1:p.(Pro581Ser)	NC_000023.10:g.32563334G>A	VUS	1 lab	3ebc4375cf
6:107031213 RTN4IP1 T>A	6	107031213	107031213	T	A	RTN4IP1	c.1073A>T	NM_032730.5	NP_116119.2:p.(Asp358Val)	NC_000006.11:g.107031213T>A	VUS	1 lab	b141b10ac6
17:29562737 NF1 ACT>A	17	29562737	29562743	ACT	A	NF1	c.3822_3823del	NM_001042492.3	NP_001035957.1:p.(Phe1275ProfsTer8)	NC_000017.10:g.29562742_29562743del	(Likely) pathogenic	1 lab	b14218f4e2
22:41256712 XPNPEP3 A>G	22	41256712	41256712	A	G	XPNPEP3	c.95A>G	NM_001204827.1	NP_001191756.1:p.(Gln32Arg)	NC_000022.10:g.41256712A>G	(Likely) benign	1 lab	b143963344
19:50393407 IL4I1 G>C	19	50393407	50393407	G	C	IL4I1	c.1290C>G	NM_001258018.1	NP_001244947.1:p.(Ala430=)	NC_000019.9:g.50393407G>C	(Likely) benign	1 lab	b144923d9b
6:79752710 PHIP C>G	6	79752710	79752710	C	G	PHIP	c.450G>C	NM_017934.6	NP_060404.4:p.(Leu150=)	NC_000006.11:g.79752710C>G	(Likely) benign	1 lab	b146f4354c
4:103560976 MANBA G>A	4	103560976	103560976	G	A	MANBA	c.1908C>T	NM_005908.3	NP_005899.3:p.(Phe636=)	NC_000004.11:g.103560976G>A	(Likely) benign	1 lab	b1470f6db3
10:123279633 FGFR2 A>G	10	123279633	123279633	A	G	FGFR2	c.799T>C	NM_000141.4	NP_000132.3:p.(Ser267Pro)	NC_000010.10:g.123279633A>G	(Likely) pathogenic	1 lab	b1473be8c1
X:152915689 DUSP9 G>C	X	152915689	152915689	G	C	DUSP9	c.1084G>C	NM_001318503.2	NP_001305432.1:p.(Ala362Pro)	NC_000023.10:g.152915689G>C	(Likely) benign	1 lab	b1483d4cd5
7:141754686 MGAM CG>C	7	141754686	141754688	CG	C	MGAM	c.3294del	NM_001365693.1	NP_001352622.1:p.(Lys1099ArgfsTer6)	NC_000007.13:g.141754688del	(Likely) pathogenic	1 lab	b148e59dcd
1:33087510 ZBTB8OS C>T	1	33087510	33087510	C	T	ZBTB8OS	c.349G>A	NM_001330475.2	NP_001317404.1:p.(Val117Ile)	NC_000001.10:g.33087510C>T	(Likely) benign	1 lab	b14900ba91
10:73500626 CDH23 C>A	10	73500626	73500626	C	A	CDH23	c.4536C>A	NM_022124.5	NP_071407.4:p.(Ile1512=)	NC_000010.10:g.73500626C>A	(Likely) benign	1 lab	b14929dea9
12:57965138 KIF5A A>AG	12	57965138	57965139	A	AG	KIF5A	c.1329dup	NM_004984.3	NP_004975.2:p.(Lys444GlufsTer38)	NC_000012.11:g.57965139dup	(Likely) pathogenic	1 lab	b14a554083
20:10386163 MKKS G>T	20	10386163	10386163	G	T	MKKS	c.1445C>A	NM_018848.3	NP_061336.1:p.(Ala482Glu)	NC_000020.10:g.10386163G>T	VUS	1 lab	b14a5ffe2d
14:23886368 MYH7 G>A	14	23886368	23886368	G	A	MYH7	c.4513C>T	NM_000257.2	NP_000248.2:p.(Leu1505=)	NC_000014.8:g.23886368G>A	(Likely) benign	1 lab	b14d387a58
2:190044330 COL5A2 T>C	2	190044330	190044330	T	C	COL5A2	c.1A>G	NM_000393.4	NP_000384.2:p.(Met1?)	NC_000002.11:g.190044330T>C	VUS	1 lab	b15020482f
13:114325863 GRK1 C>T	13	114325863	114325863	C	T	GRK1	c.877C>T	NM_002929.3	NP_002920.1:p.(Arg293Cys)	NC_000013.10:g.114325863C>T	VUS	1 lab	b15305e026
X:49854900 CLCN5 G>A	X	49854900	49854900	G	A	CLCN5	c.1872G>A	NM_001127899.3	NP_001121371.1:p.(Arg624=)	NC_000023.10:g.49854900G>A	(Likely) benign	1 lab	b15471b273
5:150945846 FAT2 G>T	5	150945846	150945846	G	T	FAT2	c.2647C>A	NM_001447.2	NP_001438.1:p.(Arg883Ser)	NC_000005.9:g.150945846G>T	VUS	1 lab	b1570e7496
18:56367801 MALT1 C>T	18	56367801	56367801	C	T	MALT1	c.627C>T	NM_006785.4	NP_006776.1:p.(Cys209=)	NC_000018.9:g.56367801C>T	(Likely) benign	1 lab	b15756d677
16:3778958 CREBBP C>T	16	3778958	3778958	C	T	CREBBP	c.6090G>A	NM_004380.2	NP_004371.2:p.(Gln2030=)	NC_000016.9:g.3778958C>T	(Likely) benign	1 lab	b159b15b1d
11:4112957 STIM1 G>A	11	4112957	4112957	G	A	STIM1	c.2305G>A	NM_001277961.1	NP_001264890.1:p.(Glu769Lys)	NC_000011.9:g.4112957G>A	VUS	1 lab	b15a8dd253
17:29554566 NF1 G>C	17	29554566	29554566	G	C	NF1	c.2351G>C	NM_000267.3	NP_000258.1:p.(Trp784Ser)	NC_000017.10:g.29554566G>C	(Likely) pathogenic	1 lab	b15d62427c
8:144991172 PLEC G>A	8	144991172	144991172	G	A	PLEC	c.13228C>T	NM_201380.3	NP_958782.1:p.(Pro4410Ser)	NC_000008.10:g.144991172G>A	VUS	1 lab	b15f294aa3
X:36366340 CFAP47 C>T	X	36366340	36366340	C	T	CFAP47	c.8540C>T	NM_001304548.1	NP_001291477.1:p.(Thr2847Met)	NC_000023.10:g.36366340C>T	(Likely) benign	1 lab	b15f50053c
17:1640898 WDR81 G>A	17	1640898	1640898	G	A	WDR81	c.5745G>A	NM_001163809.1	NP_001157281.1:p.(Thr1915=)	NC_000017.10:g.1640898G>A	(Likely) benign	1 lab	b15f7c17cd
14:23897074 MYH7 C>T	14	23897074	23897074	C	T	MYH7	c.1608G>A	NM_000257.2	NP_000248.2:p.(Glu536=)	NC_000014.8:g.23897074C>T	(Likely) benign	1 lab	b15fac3f8a
5:55253045 IL6ST C>T	5	55253045	55253045	C	T	IL6ST	c.1048G>A	NM_002184.4	NP_002175.2:p.(Val350Met)	NC_000005.9:g.55253045C>T	(Likely) benign	1 lab	b165570522
21:43291610 PRDM15 T>C	21	43291610	43291610	T	C	PRDM15	c.534A>G	NM_022115.4	NP_071398.3:p.(Leu178=)	NC_000021.8:g.43291610T>C	(Likely) benign	1 lab	b166b1cfd0
12:46246052 ARID2 C>T	12	46246052	46246052	C	T	ARID2	c.4146C>T	NM_152641.3	NP_689854.2:p.(Ser1382=)	NC_000012.11:g.46246052C>T	(Likely) benign	1 lab	b16735a030
1:16475048 EPHA2 G>A	1	16475048	16475048	G	A	EPHA2	c.648C>T	NM_004431.4	NP_004422.2:p.(Ala216=)	NC_000001.10:g.16475048G>A	(Likely) benign	1 lab	b167c43121
9:84547603 SPATA31D4 A>T	9	84547603	84547603	A	T	SPATA31D4	c.2527A>T	NM_001145197.1	NP_001138669.1:p.(Met843Leu)	NC_000009.11:g.84547603A>T	VUS	1 lab	b169e8b601
5:169143308 DOCK2 TAA>T	5	169143308	169143310	TAA	T	DOCK2	c.2031+3_2031+4del	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169143309_169143310del	(Likely) benign	1 lab	b16ae9ec03
8:6302794 MCPH1 C>T	8	6302794	6302794	C	T	MCPH1	c.1551C>T	NM_024596.4	NP_078872.2:p.(Asp517=)	NC_000008.10:g.6302794C>T	(Likely) benign	1 lab	b16ba8fb8a
5:54522926 MCIDAS A>G	5	54522926	54522926	A	G	MCIDAS	c.41T>C	NM_001190787.1	NP_001177716.1:p.(Phe14Ser)	NC_000005.9:g.54522926A>G	VUS	1 lab	b16e92e855
3:112005609 SLC9C1 G>GA	3	112005609	112005617	G	GA	SLC9C1	c.29dup	NM_183061.3	NP_898884.1:p.(Ser11GlnfsTer3)	NC_000003.11:g.112005617dup	VUS	1 lab	b16ec97549
16:2136820 TSC2 T>G	16	2136820	2136820	T	G	TSC2	c.4937T>G	NM_000548.3	NP_000539.2:p.(Val1646Gly)	NC_000016.9:g.2136820T>G	(Likely) pathogenic	1 lab	b170d03c56
5:66460045 MAST4 G>C	5	66460045	66460045	G	C	MAST4	c.5038G>C	NM_001164664.1	NP_001158136.1:p.(Asp1680His)	NC_000005.9:g.66460045G>C	VUS	1 lab	b1725b43f1
X:53106197 GPR173 G>A	X	53106197	53106197	G	A	GPR173	c.394G>A	NM_018969.5	NP_061842.1:p.(Ala132Thr)	NC_000023.10:g.53106197G>A	(Likely) benign	1 lab	b172d26274
4:57350993 SRP72 G>A	4	57350993	57350993	G	A	SRP72	c.1049G>A	NM_006947.4	NP_008878.3:p.(Arg350His)	NC_000004.11:g.57350993G>A	VUS	1 lab	b174d02e5d
6:75823016 COL12A1 C>G	6	75823016	75823016	C	G	COL12A1	c.7854G>C	NM_004370.5	NP_004361.3:p.(Thr2618=)	NC_000006.11:g.75823016C>G	(Likely) benign	1 lab	b1750e8cb9
12:106830912 POLR3B A>C	12	106830912	106830912	A	C	POLR3B	c.1856+3A>C	NM_018082.5	NP_060552.4:p.?	NC_000012.11:g.106830912A>C	(Likely) benign	1 lab	b176e34167
X:140984443 MAGEC3 C>G	X	140984443	140984443	C	G	MAGEC3	c.5C>G	NM_177456.2	NP_803251.1:p.(Pro2Arg)	NC_000023.10:g.140984443C>G	(Likely) benign	1 lab	b177d5cc6e
5:67575498 PIK3R1 C>T	5	67575498	67575498	C	T	PIK3R1	c.571C>T	NM_181523.2	NP_852664.1:p.(Leu191=)	NC_000005.9:g.67575498C>T	(Likely) benign	1 lab	b17869d193
13:32912969 BRCA2 G>GA	13	32912969	32912972	G	GA	BRCA2	c.4480dup	NM_000059.3	NP_000050.2:p.(Ser1494LysfsTer20)	NC_000013.10:g.32912972dup	(Likely) pathogenic	1 lab	b1788e25d1
13:114322407 GRK1 A>G	13	114322407	114322407	A	G	GRK1	c.699+7A>G	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114322407A>G	(Likely) benign	1 lab	b1790b212c
X:153172103 AVPR2 G>A	X	153172103	153172103	G	A	AVPR2	c.1037G>A	NM_000054.5	NP_000045.1:p.(Arg346His)	NC_000023.10:g.153172103G>A	(Likely) benign	1 lab	b17aea00d1
12:2017036 CACNA2D4 G>A	12	2017036	2017036	G	A	CACNA2D4	c.649+5C>T	NM_172364.4	NP_758952.4:p.?	NC_000012.11:g.2017036G>A	VUS	1 lab	b17d04f42e
9:140676747 EHMT1 C>T	9	140676747	140676747	C	T	EHMT1	c.2280C>T	NM_024757.4	NP_079033.4:p.(Asp760=)	NC_000009.11:g.140676747C>T	(Likely) benign	1 lab	b1822c0036
1:198671642 PTPRC T>A	1	198671642	198671642	T	A	PTPRC	c.566T>A	NM_002838.4	NP_002829.3:p.(Ile189Asn)	NC_000001.10:g.198671642T>A	(Likely) benign	1 lab	b183dd4e67
3:4738851 ITPR1 C>T	3	4738851	4738851	C	T	ITPR1	c.4257C>T	NM_001168272.1	NP_001161744.1:p.(Asn1419=)	NC_000003.11:g.4738851C>T	(Likely) benign	1 lab	b183ee5b74
13:23912076 SACS G>A	13	23912076	23912076	G	A	SACS	c.5939C>T	NM_014363.5	NP_055178.3:p.(Ser1980Phe)	NC_000013.10:g.23912076G>A	VUS	1 lab	b184dcb0aa
6:76602282 MYO6 G>A	6	76602282	76602282	G	A	MYO6	c.2982G>A	NM_004999.3	NP_004990.3:p.(Glu994=)	NC_000006.11:g.76602282G>A	(Likely) benign	1 lab	b186a9e4cd
2:191848435 STAT1 T>A	2	191848435	191848435	T	A	STAT1	c.1379A>T	NM_007315.3	NP_009330.1:p.(Asn460Ile)	NC_000002.11:g.191848435T>A	VUS	1 lab	b187df6e22
2:179477530 TTN TG>T	2	179477530	179477533	TG	T	TTN	c.49917del	NM_001267550.2	NP_001254479.2:p.(Ser16640ValfsTer31)	NC_000002.11:g.179477533del	(Likely) pathogenic	1 lab	b1880d0912
16:77369772 ADAMTS18 A>C	16	77369772	77369772	A	C	ADAMTS18	c.1224T>G	NM_001326358.1	NP_001313287.1:p.(Phe408Leu)	NC_000016.9:g.77369772A>C	(Likely) benign	1 lab	b18a3d8caa
19:3907752 ATCAY G>A	19	3907752	3907752	G	A	ATCAY	c.379G>A	NM_033064.4	NP_149053.1:p.(Ala127Thr)	NC_000019.9:g.3907752G>A	(Likely) benign	1 lab	b18b0a9069
11:124757352 ROBO4 C>A	11	124757352	124757352	C	A	ROBO4	c.2100G>T	NM_019055.5	NP_061928.4:p.(Pro700=)	NC_000011.9:g.124757352C>A	(Likely) benign	1 lab	b18d714eb6
6:157527585 ARID1B C>T	6	157527585	157527585	C	T	ARID1B	c.5430C>T	NM_001346813.1	NP_001333742.1:p.(Ala1810=)	NC_000006.11:g.157527585C>T	(Likely) benign	1 lab	b18da67ca1
12:58023868 B4GALNT1 C>T	12	58023868	58023868	C	T	B4GALNT1	c.779G>A	NM_001276469.1	NP_001263398.1:p.(Gly260Glu)	NC_000012.11:g.58023868C>T	(Likely) benign	1 lab	b18e44f867
15:62211657 VPS13C G>A	15	62211657	62211657	G	A	VPS13C	c.7478-9C>T	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62211657G>A	(Likely) benign	1 lab	b18e78f874
1:152283717 FLG A>G	1	152283717	152283717	A	G	FLG	c.3645T>C	NM_002016.1	NP_002007.1:p.(Ser1215=)	NC_000001.10:g.152283717A>G	(Likely) benign	1 lab	b1917da920
11:73753224 C2CD3 C>T	11	73753224	73753224	C	T	C2CD3	c.5535G>A	NM_001286577.1	NP_001273506.1:p.(Glu1845=)	NC_000011.9:g.73753224C>T	(Likely) benign	1 lab	b19398d774
7:103214749 RELN T>C	7	103214749	103214749	T	C	RELN	c.4304-3A>G	NM_005045.3	NP_005036.2:p.?	NC_000007.13:g.103214749T>C	VUS	1 lab	b1948e0058
17:78084556 GAA T>C	17	78084556	78084556	T	C	GAA	c.1468T>C	NM_000152.3	NP_000143.2:p.(Phe490Leu)	NC_000017.10:g.78084556T>C	(Likely) pathogenic	1 lab	b195489f9e
15:62277152 VPS13C G>A	15	62277152	62277152	G	A	VPS13C	c.1625C>T	NM_001018088.2	NP_001018098.1:p.(Thr542Met)	NC_000015.9:g.62277152G>A	VUS	1 lab	b195664d38
18:47566663 MYO5B C>T	18	47566663	47566663	C	T	MYO5B	c.160G>A	NM_001080467.2	NP_001073936.1:p.(Val54Ile)	NC_000018.9:g.47566663C>T	(Likely) benign	1 lab	b195675911
13:23949245 SACS G>A	13	23949245	23949245	G	A	SACS	c.171+13C>T	NM_014363.5	NP_055178.3:p.?	NC_000013.10:g.23949245G>A	(Likely) benign	1 lab	b197a8d482
X:70316742 FOXO4 C>A	X	70316742	70316742	C	A	FOXO4	c.364C>A	NM_005938.3	NP_005929.2:p.(Leu122Met)	NC_000023.10:g.70316742C>A	VUS	1 lab	b198621962
11:36597711 RAG1 G>T	11	36597711	36597711	G	T	RAG1	c.2857G>T	NM_000448.2	NP_000439.1:p.(Asp953Tyr)	NC_000011.9:g.36597711G>T	VUS	1 lab	b198aea651
17:4927247 KIF1C G>A	17	4927247	4927247	G	A	KIF1C	c.3113G>A	NM_006612.5	NP_006603.2:p.(Gly1038Asp)	NC_000017.10:g.4927247G>A	(Likely) benign	1 lab	b19b06d7c1
16:51173227 SALL1 GC>G	16	51173227	51173231	GC	G	SALL1	c.2905del	NM_002968.3	NP_002959.2:p.(Ala969LeufsTer4)	NC_000016.9:g.51173231del	(Likely) pathogenic	1 lab	b19bffef0c
3:49457652 AMT G>A	3	49457652	49457652	G	A	AMT	c.463C>T	NM_000481.3	NP_000472.2:p.(Leu155Phe)	NC_000003.11:g.49457652G>A	(Likely) benign	1 lab	b19fcc0333
15:22833531 TUBGCP5 C>T	15	22833531	22833531	C	T	TUBGCP5	c.7C>T	NM_052903.6	NP_443135.3:p.(Arg3Trp)	NC_000015.9:g.22833531C>T	VUS	1 lab	b1a2a476ff
7:42005300 GLI3 T>TG	7	42005300	42005304	T	TG	GLI3	c.3370dup	NM_000168.5	NP_000159.3:p.(His1124ProfsTer5)	NC_000007.13:g.42005304dup	(Likely) pathogenic	1 lab	b1a2ce3b52
1:9804496 CLSTN1 G>A	1	9804496	9804496	G	A	CLSTN1	c.1191C>T	NM_001009566.2	NP_001009566.1:p.(Phe397=)	NC_000001.10:g.9804496G>A	(Likely) benign	1 lab	b1a510ccc6
16:77334298 ADAMTS18 G>A	16	77334298	77334298	G	A	ADAMTS18	c.2020C>T	NM_001326358.1	NP_001313287.1:p.(Leu674=)	NC_000016.9:g.77334298G>A	(Likely) benign	1 lab	b1a574219b
3:133166188 BFSP2 C>T	3	133166188	133166188	C	T	BFSP2	c.517C>T	NM_003571.3	NP_003562.1:p.(Arg173Trp)	NC_000003.11:g.133166188C>T	VUS	1 lab	b1a5cd8efd
X:40551442 MED14 C>T	X	40551442	40551442	C	T	MED14	c.1973G>A	NM_004229.3	NP_004220.2:p.(Arg658Gln)	NC_000023.10:g.40551442C>T	VUS	1 lab	b1a6630228
4:79440521 FRAS1 G>A	4	79440521	79440521	G	A	FRAS1	c.10426G>A	NM_025074.7	NP_079350.5:p.(Val3476Met)	NC_000004.11:g.79440521G>A	VUS	1 lab	b1a68c367a
2:241661964 KIF1A C>G	2	241661964	241661964	C	G	KIF1A	c.4574G>C	NM_001244008.1	NP_001230937.1:p.(Gly1525Ala)	NC_000002.11:g.241661964C>G	(Likely) benign	1 lab	b1a6b2a59c
15:28544541 HERC2 C>T	15	28544541	28544541	C	T	HERC2	c.187+7G>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28544541C>T	(Likely) benign	1 lab	b1a7706635
8:38110506 DDHD2 G>A	8	38110506	38110506	G	A	DDHD2	c.1752G>A	NM_001362912.1	NP_001349841.1:p.(Met584Ile)	NC_000008.10:g.38110506G>A	(Likely) benign	1 lab	b1a8e8291e
16:1570216 IFT140 C>T	16	1570216	1570216	C	T	IFT140	c.3789G>A	NM_014714.3	NP_055529.2:p.(Pro1263=)	NC_000016.9:g.1570216C>T	(Likely) benign	1 lab	b1a97a6f51
X:107925115 COL4A5 C>G	X	107925115	107925115	C	G	COL4A5	c.4213C>G	NM_033380.2	NP_203699.1:p.(Pro1405Ala)	NC_000023.10:g.107925115C>G	VUS	1 lab	b1aaa9121c
8:100287465 VPS13B A>T	8	100287465	100287465	A	T	VPS13B	c.2807A>T	NM_017890.4	NP_060360.3:p.(Asp936Val)	NC_000008.10:g.100287465A>T	VUS	1 lab	b1aac09987
5:13845106 DNAH5 C>T	5	13845106	13845106	C	T	DNAH5	c.5115-4G>A	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13845106C>T	(Likely) benign	1 lab	b1ab004821
2:233386838 PRSS56 C>T	2	233386838	233386838	C	T	PRSS56	c.414C>T	NM_001195129.1	NP_001182058.1:p.(Ser138=)	NC_000002.11:g.233386838C>T	(Likely) benign	1 lab	b1ab9ffee5
7:103293035 RELN T>C	7	103293035	103293035	T	C	RELN	c.1726A>G	NM_173054.2	NP_774959.1:p.(Ile576Val)	NC_000007.13:g.103293035T>C	VUS	1 lab	b1ae1c0916
10:31134168 ZNF438 C>T	10	31134168	31134168	C	T	ZNF438	c.2062G>A	NM_001143769.1	NP_001137241.1:p.(Val688Met)	NC_000010.10:g.31134168C>T	(Likely) benign	1 lab	b1afb1ebc6
19:15298079 NOTCH3 G>A	19	15298079	15298079	G	A	NOTCH3	c.1677C>T	NM_000435.2	NP_000426.2:p.(Cys559=)	NC_000019.9:g.15298079G>A	(Likely) benign	1 lab	b1b44fc846
X:18943865 PHKA2 C>T	X	18943865	18943865	C	T	PHKA2	c.1490G>A	NM_000292.2	NP_000283.1:p.(Arg497Gln)	NC_000023.10:g.18943865C>T	VUS	1 lab	b1b5c22470
19:58753675 ZNF544 G>A	19	58753675	58753675	G	A	ZNF544	c.103+1G>A	NM_001320776.1	NP_001307705.1:p.?	NC_000019.9:g.58753675G>A	VUS	1 lab	b1b773d4c6
1:2339996 PEX10 G>A	1	2339996	2339996	G	A	PEX10	c.495C>T	NM_153818.1	NP_722540.1:p.(Phe165=)	NC_000001.10:g.2339996G>A	(Likely) benign	1 lab	b1b7a872a6
3:52426528 DNAH1 C>T	3	52426528	52426528	C	T	DNAH1	c.10101C>T	NM_015512.4	NP_056327.4:p.(Pro3367=)	NC_000003.11:g.52426528C>T	(Likely) benign	1 lab	b1b8c69ded
10:103827260 HPS6 G>A	10	103827260	103827260	G	A	HPS6	c.2029G>A	NM_024747.5	NP_079023.2:p.(Glu677Lys)	NC_000010.10:g.103827260G>A	VUS	1 lab	b1bc105cfc
19:36549783 WDR62 TA>T	19	36549783	36549785	TA	T	WDR62	c.269+12del	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36549785del	(Likely) benign	1 lab	b1bf1c40c7
18:7011349 LAMA1 G>T	18	7011349	7011349	G	T	LAMA1	c.3637C>A	NM_005559.3	NP_005550.2:p.(Arg1213Ser)	NC_000018.9:g.7011349G>T	VUS	1 lab	b1c09c2498
4:187130393 CYP4V2 G>A	4	187130393	187130393	G	A	CYP4V2	c.1372G>A	NM_207352.3	NP_997235.3:p.(Val458Met)	NC_000004.11:g.187130393G>A	VUS	1 lab	b1c0d2b5c4
X:69516998 KIF4A A>G	X	69516998	69516998	A	G	KIF4A	c.386A>G	NM_012310.4	NP_036442.3:p.(Lys129Arg)	NC_000023.10:g.69516998A>G	(Likely) benign	1 lab	b1c1c7f6fc
4:6292917 WFS1 C>A	4	6292917	6292917	C	A	WFS1	c.461-7C>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6292917C>A	(Likely) benign	1 lab	b1c1e21f12
X:114425611 RBMXL3 G>T	X	114425611	114425611	G	T	RBMXL3	c.1607G>T	NM_001145346.1	NP_001138818.1:p.(Ser536Ile)	NC_000023.10:g.114425611G>T	(Likely) benign	1 lab	b1c20e5823
X:153221681 HCFC1 T>A	X	153221681	153221681	T	A	HCFC1	c.2817A>T	NM_005334.2	NP_005325.2:p.(Thr939=)	NC_000023.10:g.153221681T>A	(Likely) benign	1 lab	b1c2138eb2
21:46320375 ITGB2 G>T	21	46320375	46320375	G	T	ITGB2	c.757C>A	NM_000211.3	NP_000202.2:p.(Arg253Ser)	NC_000021.8:g.46320375G>T	VUS	1 lab	b1c2cc3275
X:128692651 OCRL G>A	X	128692651	128692651	G	A	OCRL	c.481G>A	NM_000276.3	NP_000267.2:p.(Asp161Asn)	NC_000023.10:g.128692651G>A	(Likely) benign	1 lab	b1c33bb232
5:149754365 TCOF1 G>A	5	149754365	149754365	G	A	TCOF1	c.1269G>A	NM_001135243.1	NP_001128715.1:p.(Ala423=)	NC_000005.9:g.149754365G>A	(Likely) benign	1 lab	b1c3731fbf
19:8668686 ADAMTS10 T>C	19	8668686	8668686	T	C	ADAMTS10	c.518A>G	NM_030957.3	NP_112219.3:p.(Glu173Gly)	NC_000019.9:g.8668686T>C	VUS	1 lab	b1c3dfea7b
X:37029425 FAM47C C>T	X	37029425	37029425	C	T	FAM47C	c.2942C>T	NM_001013736.2	NP_001013758.1:p.(Ala981Val)	NC_000023.10:g.37029425C>T	(Likely) benign	1 lab	b1c8dd0e73
X:55051265 ALAS2 A>G	X	55051265	55051265	A	G	ALAS2	c.190T>C	NM_000032.5	NP_000023.2:p.(Ser64Pro)	NC_000023.10:g.55051265A>G	(Likely) benign	1 lab	b1c9266fd4
19:34925816 UBA2 T>G	19	34925816	34925816	T	G	UBA2	c.402T>G	NM_005499.3	NP_005490.1:p.(Val134=)	NC_000019.9:g.34925816T>G	(Likely) benign	1 lab	b1c9af2e56
1:1461877 ATAD3A G>A	1	1461877	1461877	G	A	ATAD3A	c.1447G>A	NM_018188.4	NP_060658.3:p.(Ala483Thr)	NC_000001.10:g.1461877G>A	VUS	1 lab	b1c9dcfe6d
2:179437001 TTN G>C	2	179437001	179437001	G	C	TTN	c.73858C>G	NM_001267550.1	NP_001254479.1:p.(Pro24620Ala)	NC_000002.11:g.179437001G>C	VUS	1 lab	b1c9f771bd
3:51500840 MISSING C>T	3	51500840	51500840	C	T	MISSING				NC_000003.11:g.51500840C>T	(Likely) benign	1 lab	b1ca535314
10:21906053 MLLT10 C>T	10	21906053	21906053	C	T	MLLT10	c.616C>T	NM_004641.3	NP_004632.1:p.(Arg206Trp)	NC_000010.10:g.21906053C>T	VUS	1 lab	b1cae2a3a9
13:31848717 B3GLCT C>T	13	31848717	31848717	C	T	B3GLCT	c.732C>T	NM_194318.3	NP_919299.3:p.(Asp244=)	NC_000013.10:g.31848717C>T	(Likely) benign	1 lab	b1cb014ddd
21:46911115 COL18A1 C>T	21	46911115	46911115	C	T	COL18A1	c.2068-24C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46911115C>T	(Likely) benign	1 lab	b1cb93a993
1:47753320 STIL G>A	1	47753320	47753320	G	A	STIL	c.1036C>T	NM_001282936.1	NP_001269865.1:p.(Pro346Ser)	NC_000001.10:g.47753320G>A	(Likely) benign	1 lab	b1cbaa5921
16:88499952 ZNF469 C>T	16	88499952	88499952	C	T	ZNF469				NC_000016.9:g.88499952C>T	(Likely) benign	1 lab	b1d0799c17
3:133119217 BFSP2 C>A	3	133119217	133119217	C	A	BFSP2	c.290C>A	NM_003571.3	NP_003562.1:p.(Pro97Gln)	NC_000003.11:g.133119217C>A	VUS	1 lab	b1d13cbed5
14:21785876 RPGRIP1 C>G	14	21785876	21785876	C	G	RPGRIP1	c.1173C>G	NM_020366.3	NP_065099.3:p.(Ser391Arg)	NC_000014.8:g.21785876C>G	VUS	1 lab	b1d212dfbf
10:96313879 HELLS A>C	10	96313879	96313879	A	C	HELLS	c.154-4A>C	NM_001289067.1	NP_001275996.1:p.?	NC_000010.10:g.96313879A>C	(Likely) benign	1 lab	b1d32940ee
1:3348551 PRDM16 C>T	1	3348551	3348551	C	T	PRDM16	c.3543C>T	NM_022114.3	NP_071397.3:p.(Gly1181=)	NC_000001.10:g.3348551C>T	(Likely) benign	1 lab	b1d3bdabc9
17:78078765 GAA G>T	17	78078765	78078765	G	T	GAA	c.380G>T	NM_000152.3	NP_000143.2:p.(Cys127Phe)	NC_000017.10:g.78078765G>T	(Likely) pathogenic	1 lab	b1d457a29f
3:49569177 DAG1 G>A	3	49569177	49569177	G	A	DAG1	c.1233G>A	NM_001165928.3	NP_001159400.2:p.(Val411=)	NC_000003.11:g.49569177G>A	(Likely) benign	1 lab	b1d45e3458
18:44584612 KATNAL2 G>A	18	44584612	44584612	G	A	KATNAL2	c.123G>A	NM_031303.3	NP_112593.2:p.(Met41Ile)	NC_000018.9:g.44584612G>A	(Likely) benign	1 lab	b1d5996666
1:26392867 TRIM63 C>T	1	26392867	26392867	C	T	TRIM63	c.224G>A	NM_032588.3	NP_115977.2:p.(Cys75Tyr)	NC_000001.10:g.26392867C>T	(Likely) pathogenic	1 lab	b1d6207507
12:106903201 POLR3B C>T	12	106903201	106903201	C	T	POLR3B	c.3276C>T	NM_018082.5	NP_060552.4:p.(Cys1092=)	NC_000012.11:g.106903201C>T	(Likely) benign	1 lab	b1d9627fa6
1:7811409 CAMTA1 C>T	1	7811409	7811409	C	T	CAMTA1	c.4840C>T	NM_015215.3	NP_056030.1:p.(Arg1614Trp)	NC_000001.10:g.7811409C>T	VUS	1 lab	b1d99de377
3:194061955 CPN2 C>T	3	194061955	194061955	C	T	CPN2	c.1477G>A	NM_001080513.4	NP_001073982.3:p.(Ala493Thr)	NC_000003.11:g.194061955C>T	VUS	1 lab	b1db6d24f6
18:53070861 TCF4 G>T	18	53070861	53070861	G	T	TCF4	c.85C>A	NM_001243232.1	NP_001230161.1:p.(Pro29Thr)	NC_000018.9:g.53070861G>T	(Likely) benign	1 lab	b1dd51e229
1:209963840 IRF6 C>T	1	209963840	209963840	C	T	IRF6	c.1060G>A	NM_006147.3	NP_006138.1:p.(Asp354Asn)	NC_000001.10:g.209963840C>T	VUS	1 lab	b1df2e3395
20:57016116 VAPB C>T	20	57016116	57016116	C	T	VAPB	c.550C>T	NM_004738.4	NP_004729.1:p.(Arg184Trp)	NC_000020.10:g.57016116C>T	VUS	1 lab	b1df2f22ef
17:29676284 NF1 TAAAC>T	17	29676284	29676291	TAAAC	T	NF1	c.7321+19_7321+22del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676288_29676291del	(Likely) benign	1 lab	b1e056bc7d
18:55226391 FECH A>G	18	55226391	55226391	A	G	FECH				NC_000018.9:g.55226391A>G	(Likely) pathogenic	1 lab	b1e09516ad
X:153174581 ARHGAP4 T>C	X	153174581	153174581	T	C	ARHGAP4	c.2670A>G	NM_001164741.1	NP_001158213.1:p.(Gly890=)	NC_000023.10:g.153174581T>C	(Likely) benign	1 lab	b1e0cac367
11:64695296 PPP2R5B C>T	11	64695296	64695296	C	T	PPP2R5B	c.419C>T	NM_006244.3	NP_006235.1:p.(Thr140Ile)	NC_000011.9:g.64695296C>T	VUS	1 lab	b1e392155e
22:25597369 CRYBB3 G>A	22	25597369	25597369	G	A	CRYBB3	c.6G>A	NM_004076.4	NP_004067.1:p.(Ala2=)	NC_000022.10:g.25597369G>A	(Likely) benign	1 lab	b1e459c274
9:135772851 TSC1 C>T	9	135772851	135772851	C	T	TSC1	c.2772G>A	NM_000368.4	NP_000359.1:p.(Leu924=)	NC_000009.11:g.135772851C>T	(Likely) benign	1 lab	b1e654e618
17:73517989 TSEN54 G>T	17	73517989	73517989	G	T	TSEN54	c.827G>T	NM_207346.2	NP_997229.2:p.(Gly276Val)	NC_000017.10:g.73517989G>T	(Likely) benign	1 lab	b1e889ed1c
3:121547366 IQCB1 G>A	3	121547366	121547366	G	A	IQCB1	c.214C>T	NM_001023570.3	NP_001018864.2:p.(Arg72Ter)	NC_000003.11:g.121547366G>A	(Likely) pathogenic	1 lab	b1e8a496ec
1:47882811 FOXE3 GC>G	1	47882811	47882815	GC	G	FOXE3	c.828del	NM_012186.3	NP_036318.1:p.(Gly277AlafsTer30)	NC_000001.10:g.47882815del	VUS	1 lab	b1e8ff668a
7:92761053 SAMD9L C>T	7	92761053	92761053	C	T	SAMD9L	c.4232G>A	NM_152703.4	NP_689916.2:p.(Arg1411Gln)	NC_000007.13:g.92761053C>T	(Likely) benign	1 lab	b1e9499670
X:22291554 CBLL2 C>T	X	22291554	22291554	C	T	CBLL2	c.446C>T	NM_152577.3	NP_689790.1:p.(Ser149Leu)	NC_000023.10:g.22291554C>T	(Likely) benign	1 lab	b1eab4c797
6:56327929 DST T>C	6	56327929	56327929	T	C	DST	c.16556A>G	NM_001144769.2	NP_001138241.1:p.(Tyr5519Cys)	NC_000006.11:g.56327929T>C	VUS	1 lab	b1eb05fab7
17:5442787 NLRP1 G>T	17	5442787	5442787	G	T	NLRP1	c.2818C>A	NM_033004.4	NP_127497.1:p.(Arg940=)	NC_000017.10:g.5442787G>T	(Likely) benign	1 lab	b1eb845cf3
16:66527170 BEAN1 G>A	16	66527170	66527170	G	A	BEAN1	c.453G>A	NM_001197225.3	NP_001184154.1:p.(Gly151=)	NC_000016.9:g.66527170G>A	(Likely) benign	1 lab	b1ebfad12a
7:103130201 RELN C>T	7	103130201	103130201	C	T	RELN	c.9751G>A	NM_173054.2	NP_774959.1:p.(Glu3251Lys)	NC_000007.13:g.103130201C>T	VUS	1 lab	b1ec5f304c
6:112375561 CCN6 A>G	6	112375561	112375561	A	G	CCN6	c.1A>G	NM_003880.3	NP_003871.1:p.(Met1?)	NC_000006.11:g.112375561A>G	VUS	1 lab	b1ec8bb47f
15:65622915 IGDCC3 C>T	15	65622915	65622915	C	T	IGDCC3	c.1726G>A	NM_004884.4	NP_004875.2:p.(Val576Ile)	NC_000015.9:g.65622915C>T	(Likely) benign	1 lab	b1eca59805
12:124241408 ATP6V0A2 C>T	12	124241408	124241408	C	T	ATP6V0A2	c.2340C>T	NM_012463.3	NP_036595.2:p.(Arg780=)	NC_000012.11:g.124241408C>T	(Likely) benign	1 lab	b1eca7e9db
22:38165339 TRIOBP A>G	22	38165339	38165339	A	G	TRIOBP	c.6806A>G	NM_001039141.2	NP_001034230.1:p.(Asn2269Ser)	NC_000022.10:g.38165339A>G	(Likely) benign	1 lab	b1ecdb7418
17:26699204 SARM1 C>G	17	26699204	26699204	C	G	SARM1	c.153C>G	NM_015077.4	NP_055892.2:p.(Arg51=)	NC_000017.10:g.26699204C>G	(Likely) benign	1 lab	b1ed209482
15:68500655 CLN6 G>C	15	68500655	68500655	G	C	CLN6	c.759C>G	NM_017882.2	NP_060352.1:p.(Leu253=)	NC_000015.9:g.68500655G>C	(Likely) benign	1 lab	b1ed5aabce
1:150310795 PRPF3 T>A	1	150310795	150310795	T	A	PRPF3	c.1195T>A	NM_004698.3	NP_004689.1:p.(Phe399Ile)	NC_000001.10:g.150310795T>A	VUS	1 lab	b1ede4f1fd
12:98921811 TMPO A>C	12	98921811	98921811	A	C	TMPO	c.406+21A>C	NM_003276.2	NP_003267.1:p.?	NC_000012.11:g.98921811A>C	(Likely) benign	1 lab	b1ee7f80c5
19:45871914 ERCC2 G>A	19	45871914	45871914	G	A	ERCC2	c.334C>T	NM_000400.3	NP_000391.1:p.(Arg112Cys)	NC_000019.9:g.45871914G>A	(Likely) pathogenic	1 lab	b1f2e6dda3
X:18929044 PHKA2 A>G	X	18929044	18929044	A	G	PHKA2	c.2172T>C	NM_000292.2	NP_000283.1:p.(Ser724=)	NC_000023.10:g.18929044A>G	(Likely) benign	1 lab	b1f3689ecd
5:13811775 DNAH5 T>C	5	13811775	13811775	T	C	DNAH5	c.7388A>G	NM_001369.2	NP_001360.1:p.(Gln2463Arg)	NC_000005.9:g.13811775T>C	(Likely) benign	1 lab	b1f4687660
17:17699619 RAI1 C>T	17	17699619	17699619	C	T	RAI1	c.3357C>T	NM_030665.3	NP_109590.3:p.(Ser1119=)	NC_000017.10:g.17699619C>T	(Likely) benign	1 lab	b1f509c3ad
12:40681352 LRRK2 TA>T	12	40681352	40681361	TA	T	LRRK2	c.2689+20del	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40681361del	(Likely) benign	1 lab	b1f51d04dc
1:109479977 CLCC1 C>T	1	109479977	109479977	C	T	CLCC1	c.1105G>A	NM_001048210.2	NP_001041675.1:p.(Glu369Lys)	NC_000001.10:g.109479977C>T	VUS	1 lab	b1f6699ecd
1:11087343 MASP2 GCAGA>G	1	11087343	11087349	GCAGA	G	MASP2	c.1656_1659del	NM_006610.4	NP_006601.2:p.(Leu553GlnfsTer9)	NC_000001.10:g.11087346_11087349del	VUS	1 lab	b1f9a923bc
13:111088633 COL4A2 G>A	13	111088633	111088633	G	A	COL4A2	c.744G>A	NM_001846.3	NP_001837.2:p.(Pro248=)	NC_000013.10:g.111088633G>A	(Likely) benign	1 lab	b1f9d17ae3
17:10558329 MYH3 C>T	17	10558329	10558329	C	T	MYH3	c.53G>A	NM_002470.3	NP_002461.2:p.(Arg18Gln)	NC_000017.10:g.10558329C>T	VUS	1 lab	b1fc1fe597
1:3751495 CEP104 C>T	1	3751495	3751495	C	T	CEP104	c.1479G>A	NM_014704.3	NP_055519.1:p.(Val493=)	NC_000001.10:g.3751495C>T	(Likely) benign	1 lab	b1fed0040c
X:118985738 UPF3B A>G	X	118985738	118985738	A	G	UPF3B	c.255T>C	NM_080632.2	NP_542199.1:p.(Asn85=)	NC_000023.10:g.118985738A>G	(Likely) benign	1 lab	b1ff2d823f
12:56536716 ESYT1 C>T	12	56536716	56536716	C	T	ESYT1	c.3016C>T	NM_001184796.1	NP_001171725.1:p.(Arg1006Trp)	NC_000012.11:g.56536716C>T	VUS	1 lab	b1ff66d063
10:118310605 PNLIP A>G	10	118310605	118310605	A	G	PNLIP	c.325-5A>G	NM_000936.3	NP_000927.1:p.?	NC_000010.10:g.118310605A>G	(Likely) benign	1 lab	b1ff82e5e0
2:69408959 ANTXR1 G>A	2	69408959	69408959	G	A	ANTXR1	c.1131G>A	NM_032208.2	NP_115584.1:p.(Thr377=)	NC_000002.11:g.69408959G>A	(Likely) benign	1 lab	b2031a11c8
2:73675666 ALMS1 A>T	2	73675666	73675666	A	T	ALMS1	c.2015A>T	NM_015120.4	NP_055935.4:p.(His672Leu)	NC_000002.11:g.73675666A>T	(Likely) benign	1 lab	b204173d2e
2:170129473 LRP2 C>T	2	170129473	170129473	C	T	LRP2	c.2080G>A	NM_004525.3	NP_004516.2:p.(Gly694Ser)	NC_000002.11:g.170129473C>T	VUS	1 lab	b2066b4980
22:30035145 NF2 G>T	22	30035145	30035145	G	T	NF2	c.307G>T	NM_000268.3	NP_000259.1:p.(Glu103Ter)	NC_000022.10:g.30035145G>T	(Likely) pathogenic	1 lab	b20706e8a5
14:51224216 NIN C>T	14	51224216	51224216	C	T	NIN	c.3532G>A	NM_020921.3	NP_065972.3:p.(Glu1178Lys)	NC_000014.8:g.51224216C>T	VUS	1 lab	b20a5c77fe
2:152534129 NEB C>G	2	152534129	152534129	C	G	NEB	c.3724G>C	NM_001271208.1	NP_001258137.1:p.(Asp1242His)	NC_000002.11:g.152534129C>G	VUS	1 lab	b20cc38fe6
10:105816927 COL17A1 A>T	10	105816927	105816927	A	T	COL17A1	c.1271T>A	NM_000494.4	NP_000485.3:p.(Ile424Asn)	NC_000010.10:g.105816927A>T	(Likely) benign	1 lab	b20cd06fe5
11:71949184 INPPL1 G>C	11	71949184	71949184	G	C	INPPL1	c.3651G>C	NM_001567.3	NP_001558.3:p.(Leu1217=)	NC_000011.9:g.71949184G>C	(Likely) benign	1 lab	b20cfb7395
17:40689541 NAGLU G>A	17	40689541	40689541	G	A	NAGLU	c.509G>A	NM_000263.3	NP_000254.2:p.(Gly170Asp)	NC_000017.10:g.40689541G>A	VUS	1 lab	b20d167d68
9:102590666 NR4A3 G>A	9	102590666	102590666	G	A	NR4A3	c.375G>A	NM_173200.2	NP_775292.1:p.(Gln125=)	NC_000009.11:g.102590666G>A	(Likely) benign	1 lab	b20d40cc1c
2:98804568 VWA3B C>T	2	98804568	98804568	C	T	VWA3B	c.1442C>T	NM_144992.4	NP_659429.4:p.(Thr481Ile)	NC_000002.11:g.98804568C>T	(Likely) benign	1 lab	b20d84f724
6:112496554 LAMA4 G>C	6	112496554	112496554	G	C	LAMA4	c.1318C>G	NM_001105206.2	NP_001098676.2:p.(Arg440Gly)	NC_000006.11:g.112496554G>C	(Likely) benign	1 lab	b20e0938d6
9:139391816 NOTCH1 G>A	9	139391816	139391816	G	A	NOTCH1	c.6375C>T	NM_017617.5	NP_060087.3:p.(His2125=)	NC_000009.11:g.139391816G>A	(Likely) benign	1 lab	b210e9c778
6:76022397 FILIP1 G>A	6	76022397	76022397	G	A	FILIP1	c.3160C>T	NM_001289987.2	NP_001276916.1:p.(Arg1054Trp)	NC_000006.11:g.76022397G>A	VUS	1 lab	b2122335bb
21:27372478 APP G>A	21	27372478	27372478	G	A	APP	c.885C>T	NM_000484.3	NP_000475.1:p.(Ala295=)	NC_000021.8:g.27372478G>A	(Likely) benign	1 lab	b2123f6a86
8:77896396 PEX2 T>G	8	77896396	77896396	T	G	PEX2	c.19A>C	NM_001172086.1	NP_001165557.1:p.(Asn7His)	NC_000008.10:g.77896396T>G	(Likely) benign	1 lab	b214cdfeac
6:25661855 SCGN C>T	6	25661855	25661855	C	T	SCGN	c.229C>T	NM_006998.4	NP_008929.2:p.(Arg77Cys)	NC_000006.11:g.25661855C>T	(Likely) benign	1 lab	b21536d86c
1:205210705 TMCC2 T>C	1	205210705	205210705	T	C	TMCC2	c.280T>C	NM_014858.4	NP_055673.2:p.(Ser94Pro)	NC_000001.10:g.205210705T>C	VUS	1 lab	b21769d5a0
8:43033253 HGSNAT G>A	8	43033253	43033253	G	A	HGSNAT	c.888G>A	NM_152419.2	NP_689632.2:p.(Ser296=)	NC_000008.10:g.43033253G>A	(Likely) benign	1 lab	b217b2b150
11:103025334 DYNC2H1 C>T	11	103025334	103025334	C	T	DYNC2H1	c.3457C>T	NM_001080463.1	NP_001073932.1:p.(Arg1153Trp)	NC_000011.9:g.103025334C>T	VUS	1 lab	b217e8f2b4
9:5072560 JAK2 C>T	9	5072560	5072560	C	T	JAK2	c.1710C>T	NM_001322194.1	NP_001309123.1:p.(Tyr570=)	NC_000009.11:g.5072560C>T	(Likely) benign	1 lab	b218cec089
12:124819080 NCOR2 C>T	12	124819080	124819080	C	T	NCOR2	c.6495G>A	NM_006312.5	NP_006303.4:p.(Gly2165=)	NC_000012.11:g.124819080C>T	(Likely) benign	1 lab	b218faaee5
19:45867102 ERCC2 G>C	19	45867102	45867102	G	C	ERCC2	c.1017C>G	NM_000400.3	NP_000391.1:p.(Tyr339Ter)	NC_000019.9:g.45867102G>C	(Likely) pathogenic	1 lab	b2193675df
2:109380607 RANBP2 C>T	2	109380607	109380607	C	T	RANBP2	c.3612C>T	NM_006267.4	NP_006258.3:p.(Phe1204=)	NC_000002.11:g.109380607C>T	(Likely) benign	1 lab	b2193b5657
X:100496715 DRP2 G>A	X	100496715	100496715	G	A	DRP2	c.618G>A	NM_001939.2	NP_001930.2:p.(Thr206=)	NC_000023.10:g.100496715G>A	(Likely) benign	1 lab	b2194e5033
18:42529880 SETBP1 A>G	18	42529880	42529880	A	G	SETBP1	c.575A>G	NM_015559.3	NP_056374.2:p.(His192Arg)	NC_000018.9:g.42529880A>G	(Likely) benign	1 lab	b21968a638
18:7026049 LAMA1 G>A	18	7026049	7026049	G	A	LAMA1	c.2331C>T	NM_005559.3	NP_005550.2:p.(Tyr777=)	NC_000018.9:g.7026049G>A	(Likely) benign	1 lab	b21a25b455
X:131212671 FRMD7 G>A	X	131212671	131212671	G	A	FRMD7	c.1374C>T	NM_194277.2	NP_919253.1:p.(Ser458=)	NC_000023.10:g.131212671G>A	(Likely) benign	1 lab	b21aec7f9e
4:56883953 CEP135 G>A	4	56883953	56883953	G	A	CEP135	c.2942G>A	NM_025009.4	NP_079285.2:p.(Cys981Tyr)	NC_000004.11:g.56883953G>A	VUS	1 lab	b21b90cfb2
10:21129691 NEBL G>A	10	21129691	21129691	G	A	NEBL	c.1315C>T	NM_006393.2	NP_006384.1:p.(Arg439Ter)	NC_000010.10:g.21129691G>A	VUS	1 lab	b21be515a4
19:17894975 FCHO1 A>C	19	17894975	17894975	A	C	FCHO1	c.2157A>C	NM_001161357.1	NP_001154829.1:p.(Glu719Asp)	NC_000019.9:g.17894975A>C	VUS	1 lab	b21d1bcde3
1:13448412 MISSING T>C	1	13448412	13448412	T	C	MISSING				NC_000001.10:g.13448412T>C	(Likely) benign	1 lab	b21d2cb27a
12:116429054 MED13L TTGTG>T	12	116429054	116429063	TTGTG	T	MED13L	c.3701_3704del	NM_015335.5	NP_056150.1:p.(Thr1234AsnfsTer6)	NC_000012.11:g.116429060_116429063del	(Likely) pathogenic	1 lab	b21dea1a63
22:46774548 CELSR1 G>A	22	46774548	46774548	G	A	CELSR1	c.7323C>T	NM_014246.1	NP_055061.1:p.(Val2441=)	NC_000022.10:g.46774548G>A	(Likely) benign	1 lab	b21e2ab953
3:109019281 DPPA2 T>A	3	109019281	109019281	T	A	DPPA2	c.856A>T	NM_138815.4	NP_620170.3:p.(Asn286Tyr)	NC_000003.11:g.109019281T>A	VUS	1 lab	b220da0612
14:100331876 EML1 T>C	14	100331876	100331876	T	C	EML1	c.276T>C	NM_001008707.1	NP_001008707.1:p.(Pro92=)	NC_000014.8:g.100331876T>C	(Likely) benign	1 lab	b220f4abf4
17:42463036 ITGA2B C>T	17	42463036	42463036	C	T	ITGA2B	c.457G>A	NM_000419.3	NP_000410.2:p.(Ala153Thr)	NC_000017.10:g.42463036C>T	(Likely) benign	1 lab	b220fa5790
8:113326150 CSMD3 G>A	8	113326150	113326150	G	A	CSMD3	c.7681C>T	NM_198123.2	NP_937756.1:p.(Arg2561Trp)	NC_000008.10:g.113326150G>A	VUS	1 lab	b22186977d
5:149505119 PDGFRB A>G	5	149505119	149505119	A	G	PDGFRB	c.1213T>C	NM_001355017.1	NP_001341946.1:p.(Trp405Arg)	NC_000005.9:g.149505119A>G	(Likely) pathogenic	1 lab	b2228e65b5
7:80302726 CD36 G>GT	7	80302726	80302729	G	GT	CD36	c.1254+4dup	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80302729dup	(Likely) pathogenic	1 lab	b223073a31
3:15677122 BTD G>A	3	15677122	15677122	G	A	BTD	c.236G>A	NM_000060.4	NP_000051.1:p.(Arg79His)	NC_000003.11:g.15677122G>A	VUS	1 lab	b223af7aa3
4:144498973 FREM3 G>T	4	144498973	144498973	G	T	FREM3	c.6211C>A	NM_001168235.1	NP_001161707.1:p.(Leu2071Met)	NC_000004.11:g.144498973G>T	VUS	1 lab	b226b0efd1
20:33092197 ITCH A>C	20	33092197	33092197	A	C	ITCH	c.2601A>C	NM_001324197.1	NP_001311126.1:p.(Arg867Ser)	NC_000020.10:g.33092197A>C	VUS	1 lab	b22728cd0e
1:43777418 TIE1 G>A	1	43777418	43777418	G	A	TIE1	c.1410G>A	NM_005424.4	NP_005415.1:p.(Ser470=)	NC_000001.10:g.43777418G>A	(Likely) benign	1 lab	b2283d31a3
19:33355228 SLC7A9 C>T	19	33355228	33355228	C	T	SLC7A9	c.252G>A	NM_001243036.1	NP_001229965.1:p.(Ala84=)	NC_000019.9:g.33355228C>T	(Likely) benign	1 lab	b22a249bbd
4:118006348 TRAM1L1 C>T	4	118006348	118006348	C	T	TRAM1L1	c.202G>A	NM_152402.2	NP_689615.2:p.(Gly68Ser)	NC_000004.11:g.118006348C>T	(Likely) benign	1 lab	b22a560b00
1:22181369 HSPG2 C>T	1	22181369	22181369	C	T	HSPG2	c.6108G>A	NM_001291860.1	NP_001278789.1:p.(Gln2036=)	NC_000001.10:g.22181369C>T	(Likely) benign	1 lab	b22a96ce1f
X:19610262 SH3KBP1 G>A	X	19610262	19610262	G	A	SH3KBP1	c.1136C>T	NM_001353891.1	NP_001340820.1:p.(Thr379Ile)	NC_000023.10:g.19610262G>A	VUS	1 lab	b22abaef12
1:1848255 CALML6 G>A	1	1848255	1848255	G	A	CALML6	c.318G>A	NM_138705.4	NP_619650.2:p.(Gln106=)	NC_000001.10:g.1848255G>A	(Likely) benign	1 lab	b22b606e3f
10:79745032 POLR3A GGTGCCTGGCTCACCAATGCTCTGGGCACACAGAGCACCCACTGCAGAACCTGGCTCCATCT>G	10	79745032	79745098	GGTGCCTGGCTCACCAATGCTCTGGGCACACAGAGCACCCACTGCAGAACCTGGCTCCATCT	G	POLR3A	c.3077_3137del	NM_007055.4	NP_008986.2:p.(Gln1026ProfsTer3)	NC_000010.10:g.79745038_79745098del	(Likely) pathogenic	1 lab	b22d46f6be
6:32064691 TNXB C>A	6	32064691	32064691	C	A	TNXB	c.939G>T	NM_019105.6	NP_061978.6:p.(Arg313=)	NC_000006.11:g.32064691C>A	(Likely) benign	1 lab	b22f975470
1:207110495 PIGR A>G	1	207110495	207110495	A	G	PIGR	c.990T>C	NM_002644.3	NP_002635.2:p.(Asp330=)	NC_000001.10:g.207110495A>G	(Likely) benign	1 lab	b230c63e0c
19:42799294 CIC A>C	19	42799294	42799294	A	C	CIC	c.7505A>C	NM_001304815.1	NP_001291744.1:p.(Gln2502Pro)	NC_000019.9:g.42799294A>C	VUS	1 lab	b230ff0efc
1:22973979 C1QC G>A	1	22973979	22973979	G	A	C1QC	c.441G>A	NM_001347619.1	NP_001334548.1:p.(Pro147=)	NC_000001.10:g.22973979G>A	(Likely) benign	1 lab	b2311b5441
21:47811230 PCNT G>T	21	47811230	47811230	G	T	PCNT	c.4155G>T	NM_006031.5	NP_006022.3:p.(Glu1385Asp)	NC_000021.8:g.47811230G>T	(Likely) benign	1 lab	b231504bb8
15:28948528 GOLGA8M C>G	15	28948528	28948528	C	G	GOLGA8M	c.1305G>C	NM_001282468.1	NP_001269397.1:p.(Glu435Asp)	NC_000015.9:g.28948528C>G	(Likely) benign	1 lab	b2344e7755
14:23855309 MYH6 C>T	14	23855309	23855309	C	T	MYH6	c.4991G>A	NM_002471.4	NP_002462.2:p.(Arg1664His)	NC_000014.8:g.23855309C>T	VUS	1 lab	3ed16fbb38
1:171605450 MYOC G>A	1	171605450	171605450	G	A	MYOC	c.1130C>T	NM_000261.1	NP_000252.1:p.(Thr377Met)	NC_000001.10:g.171605450G>A	(Likely) pathogenic	1 lab	b235ff89fb
17:7919754 GUCY2D C>T	17	7919754	7919754	C	T	GUCY2D	c.3225-7C>T	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7919754C>T	(Likely) benign	1 lab	b23657db32
9:139410120 NOTCH1 T>G	9	139410120	139410120	T	G	NOTCH1	c.1718A>C	NM_017617.5	NP_060087.3:p.(Asp573Ala)	NC_000009.11:g.139410120T>G	VUS	1 lab	b23b48ddd9
X:12736390 FRMPD4 C>T	X	12736390	12736390	C	T	FRMPD4	c.3445C>T	NM_014728.3	NP_055543.2:p.(Arg1149Cys)	NC_000023.10:g.12736390C>T	(Likely) benign	1 lab	b23bc40b06
X:49807055 CLCN5 A>C	X	49807055	49807055	A	C	CLCN5	c.147A>C	NM_001127899.3	NP_001121371.1:p.(Leu49Phe)	NC_000023.10:g.49807055A>C	VUS	1 lab	b23c315cc4
1:110148975 GNAT2 G>A	1	110148975	110148975	G	A	GNAT2	c.545C>T	NM_005272.3	NP_005263.1:p.(Thr182Met)	NC_000001.10:g.110148975G>A	VUS	1 lab	b2405a957b
22:21157529 PI4KA G>A	22	21157529	21157529	G	A	PI4KA	c.1541C>T	NM_058004.3	NP_477352.3:p.(Pro514Leu)	NC_000022.10:g.21157529G>A	VUS	1 lab	b243d6cd78
17:29541557 NF1 T>A	17	29541557	29541557	T	A	NF1	c.1481T>A	NM_000267.3	NP_000258.1:p.(Leu494Ter)	NC_000017.10:g.29541557T>A	(Likely) pathogenic	1 lab	b244247262
11:117261801 CEP164 A>T	11	117261801	117261801	A	T	CEP164	c.2153A>T	NM_014956.4	NP_055771.4:p.(Asn718Ile)	NC_000011.9:g.117261801A>T	VUS	1 lab	b2454c06c8
5:68805369 OCLN C>T	5	68805369	68805369	C	T	OCLN	c.452C>T	NM_002538.3	NP_002529.1:p.(Ala151Val)	NC_000005.9:g.68805369C>T	(Likely) benign	1 lab	b247283597
8:61741306 CHD7 C>G	8	61741306	61741306	C	G	CHD7				NC_000008.10:g.61741306C>G	VUS	1 lab	b24937f92e
15:23891715 MAGEL2 G>A	15	23891715	23891715	G	A	MAGEL2	c.1175C>T	NM_019066.4	NP_061939.3:p.(Thr392Met)	NC_000015.9:g.23891715G>A	VUS	1 lab	b24a900fd4
3:132384687 UBA5 G>A	3	132384687	132384687	G	A	UBA5	c.182G>A	NM_024818.4	NP_079094.1:p.(Arg61Gln)	NC_000003.11:g.132384687G>A	VUS	1 lab	b24b490ccf
12:69980531 CCT2 A>G	12	69980531	69980531	A	G	CCT2	c.-63-2A>G	NM_001198842.1	NP_001185771.1:p.?	NC_000012.11:g.69980531A>G	(Likely) benign	1 lab	b24e465aa0
16:48232185 ABCC11 T>C	16	48232185	48232185	T	C	ABCC11	c.2084A>G	NM_033151.3	NP_149163.2:p.(Tyr695Cys)	NC_000016.9:g.48232185T>C	VUS	1 lab	b24eca17fd
4:6303296 WFS1 C>G	4	6303296	6303296	C	G	WFS1	c.1774C>G	NM_006005.3	NP_005996.2:p.(Leu592Val)	NC_000004.11:g.6303296C>G	(Likely) benign	1 lab	b24f662298
16:2167895 PKD1 C>T	16	2167895	2167895	C	T	PKD1	c.1098G>A	NM_001009944.2	NP_001009944.2:p.(Ser366=)	NC_000016.9:g.2167895C>T	(Likely) benign	1 lab	b250146cb7
2:11758652 GREB1 G>A	2	11758652	11758652	G	A	GREB1	c.3651G>A	NM_014668.3	NP_055483.2:p.(Ser1217=)	NC_000002.11:g.11758652G>A	(Likely) benign	1 lab	b250b677aa
X:119249449 RHOXF1 C>T	X	119249449	119249449	C	T	RHOXF1	c.324G>A	NM_139282.2	NP_644811.1:p.(Thr108=)	NC_000023.10:g.119249449C>T	(Likely) benign	1 lab	b254a157bb
13:32905024 BRCA2 A>T	13	32905024	32905024	A	T	BRCA2	c.682-32A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905024A>T	(Likely) benign	1 lab	b25511294a
2:130832863 POTEF G>A	2	130832863	130832863	G	A	POTEF	c.2182C>T	NM_001099771.2	NP_001093241.1:p.(Arg728Trp)	NC_000002.11:g.130832863G>A	VUS	1 lab	b2554a5051
18:67816191 RTTN G>A	18	67816191	67816191	G	A	RTTN	c.2255C>T	NM_173630.3	NP_775901.3:p.(Pro752Leu)	NC_000018.9:g.67816191G>A	VUS	1 lab	b291caac57
X:114426611 RBMXL3 C>T	X	114426611	114426611	C	T	RBMXL3	c.2607C>T	NM_001145346.1	NP_001138818.1:p.(His869=)	NC_000023.10:g.114426611C>T	(Likely) benign	1 lab	b255cc3254
8:10465048 RP1L1 C>T	8	10465048	10465048	C	T	RP1L1	c.6560G>A	NM_178857.5	NP_849188.4:p.(Gly2187Glu)	NC_000008.10:g.10465048C>T	VUS	1 lab	b257b247b8
15:66995860 SMAD6 C>G	15	66995860	66995860	C	G	SMAD6	c.264C>G	NM_005585.4	NP_005576.3:p.(Gly88=)	NC_000015.9:g.66995860C>G	(Likely) benign	1 lab	b2582635c4
1:115469181 SYCP1 A>G	1	115469181	115469181	A	G	SYCP1	c.1923A>G	NM_001282541.1	NP_001269470.1:p.(Ile641Met)	NC_000001.10:g.115469181A>G	(Likely) benign	1 lab	b258d36225
5:90124769 ADGRV1 G>T	5	90124769	90124769	G	T	ADGRV1	c.16377G>T	NM_032119.4	NP_115495.3:p.(Gln5459His)	NC_000005.9:g.90124769G>T	(Likely) benign	1 lab	b259f05211
17:73518219 TSEN54 C>T	17	73518219	73518219	C	T	TSEN54	c.1057C>T	NM_207346.2	NP_997229.2:p.(Arg353Trp)	NC_000017.10:g.73518219C>T	VUS	1 lab	b25c63992a
1:181765942 MISSING G>A	1	181765942	181765942	G	A	MISSING				NC_000001.10:g.181765942G>A	VUS	1 lab	b25db7c0ec
2:27672198 IFT172 C>T	2	27672198	27672198	C	T	IFT172	c.4274G>A	NM_015662.2	NP_056477.1:p.(Gly1425Asp)	NC_000002.11:g.27672198C>T	VUS	1 lab	b25f72e149
X:119672570 CUL4B G>A	X	119672570	119672570	G	A	CUL4B	c.1851C>T	NM_003588.3	NP_003579.3:p.(Val617=)	NC_000023.10:g.119672570G>A	(Likely) benign	1 lab	b25fbf79ca
14:74983639 LTBP2 T>C	14	74983639	74983639	T	C	LTBP2	c.2794A>G	NM_000428.2	NP_000419.1:p.(Asn932Asp)	NC_000014.8:g.74983639T>C	(Likely) benign	1 lab	b260a1cb34
15:74474673 STRA6 GT>G	15	74474673	74474676	GT	G	STRA6	c.1418+10del	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74474676del	(Likely) benign	1 lab	b261245e5c
6:152806042 SYNE1 T>C	6	152806042	152806042	T	C	SYNE1	c.1113A>G	NM_182961.3	NP_892006.3:p.(Pro371=)	NC_000006.11:g.152806042T>C	(Likely) benign	1 lab	b2612b5f7f
X:50122708 DGKK G>A	X	50122708	50122708	G	A	DGKK	c.2779C>T	NM_001013742.3	NP_001013764.1:p.(Pro927Ser)	NC_000023.10:g.50122708G>A	VUS	1 lab	b261ebb8e7
6:137147598 PEX7 C>T	6	137147598	137147598	C	T	PEX7	c.330C>T	NM_000288.3	NP_000279.1:p.(His110=)	NC_000006.11:g.137147598C>T	(Likely) benign	1 lab	b2623285d1
9:133946976 LAMC3 A>AG	9	133946976	133946982	A	AG	LAMC3	c.3181dup	NM_006059.3	NP_006050.3:p.(Asp1061GlyfsTer171)	NC_000009.11:g.133946982dup	(Likely) benign	1 lab	b262ded4a1
8:100514081 VPS13B G>A	8	100514081	100514081	G	A	VPS13B	c.4037G>A	NM_017890.4	NP_060360.3:p.(Gly1346Asp)	NC_000008.10:g.100514081G>A	(Likely) benign	1 lab	b263d6b145
5:76129141 F2RL1 G>A	5	76129141	76129141	G	A	F2RL1	c.709G>A	NM_005242.6	NP_005233.4:p.(Gly237Arg)	NC_000005.9:g.76129141G>A	VUS	1 lab	b2662fde24
10:123325147 FGFR2 G>A	10	123325147	123325147	G	A	FGFR2	c.181C>T	NM_000141.4	NP_000132.3:p.(Arg61Cys)	NC_000010.10:g.123325147G>A	VUS	1 lab	b2669342aa
9:123156761 CDK5RAP2 G>C	9	123156761	123156761	G	C	CDK5RAP2	c.5578+29C>G	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123156761G>C	(Likely) benign	1 lab	b267bf65e0
21:46932115 COL18A1 G>A	21	46932115	46932115	G	A	COL18A1	c.4354G>A	NM_030582.4	NP_085059.2:p.(Val1452Met)	NC_000021.8:g.46932115G>A	VUS	1 lab	b268c1997e
16:57485118 COQ9 C>G	16	57485118	57485118	C	G	COQ9	c.240C>G	NM_020312.3	NP_064708.1:p.(Pro80=)	NC_000016.9:g.57485118C>G	(Likely) benign	1 lab	b269e1c4d6
6:152665320 SYNE1 G>A	6	152665320	152665320	G	A	SYNE1	c.12121C>T	NM_182961.3	NP_892006.3:p.(Arg4041Ter)	NC_000006.11:g.152665320G>A	(Likely) pathogenic	1 lab	b26bf3ce1e
X:27999353 DCAF8L1 C>T	X	27999353	27999353	C	T	DCAF8L1	c.99G>A	NM_001017930.1	NP_001017930.1:p.(Thr33=)	NC_000023.10:g.27999353C>T	(Likely) benign	1 lab	b26cf1978d
9:135797335 TSC1 G>GA	9	135797335	135797336	G	GA	TSC1	c.533dup	NM_000368.4	NP_000359.1:p.(His179ProfsTer39)	NC_000009.11:g.135797336dup	(Likely) pathogenic	1 lab	b26cf9e0a4
9:101544843 ANKS6 A>G	9	101544843	101544843	A	G	ANKS6	c.1125T>C	NM_173551.4	NP_775822.3:p.(Ile375=)	NC_000009.11:g.101544843A>G	(Likely) benign	1 lab	b26e613526
5:74981145 POC5 C>T	5	74981145	74981145	C	T	POC5	c.1294G>A	NM_001099271.1	NP_001092741.1:p.(Val432Ile)	NC_000005.9:g.74981145C>T	VUS	1 lab	b26f0deb34
10:97917794 ZNF518A CAA>C	10	97917794	97917796	CAA	C	ZNF518A	c.1716_1717del	NM_001330736.2	NP_001317665.1:p.(Asp574Ter)	NC_000010.10:g.97917795_97917796del	VUS	1 lab	b27390c269
3:180322360 TTC14 T>C	3	180322360	180322360	T	C	TTC14	c.666T>C	NM_001042601.2	NP_001036066.1:p.(Gly222=)	NC_000003.11:g.180322360T>C	(Likely) benign	1 lab	b273f964a3
20:60937535 LAMA5 G>A	20	60937535	60937535	G	A	LAMA5	c.371C>T	NM_005560.4	NP_005551.3:p.(Thr124Met)	NC_000020.10:g.60937535G>A	VUS	1 lab	b27440bed7
14:23888713 MYH7 C>A	14	23888713	23888713	C	A	MYH7	c.3832G>T	NM_000257.2	NP_000248.2:p.(Ala1278Ser)	NC_000014.8:g.23888713C>A	VUS	1 lab	b2768627e6
X:31792283 DMD T>A	X	31792283	31792283	T	A	DMD	c.6967A>T	NM_004010.3	NP_004001.1:p.(Thr2323Ser)	NC_000023.10:g.31792283T>A	VUS	1 lab	b276bf10c0
X:152612972 ZNF275 G>C	X	152612972	152612972	G	C	ZNF275	c.829G>C	NM_001080485.3	NP_001073954.3:p.(Val277Leu)	NC_000023.10:g.152612972G>C	VUS	1 lab	b276c3adda
16:70993631 HYDIN C>T	16	70993631	70993631	C	T	HYDIN	c.6061G>A	NM_001270974.2	NP_001257903.1:p.(Gly2021Ser)	NC_000016.9:g.70993631C>T	VUS	1 lab	b278864af0
20:25282899 ABHD12 C>T	20	25282899	25282899	C	T	ABHD12	c.1113G>A	NM_001042472.3	NP_001035937.1:p.(Arg371=)	NC_000020.10:g.25282899C>T	(Likely) benign	1 lab	b27a4d8a31
18:29122786 DSG2 G>A	18	29122786	29122786	G	A	DSG2	c.2305G>A	NM_001943.3	NP_001934.2:p.(Glu769Lys)	NC_000018.9:g.29122786G>A	VUS	1 lab	b27c9562cc
1:85491946 MCOLN3 A>C	1	85491946	85491946	A	C	MCOLN3	c.854T>G	NM_018298.11	NP_060768.8:p.(Met285Arg)	NC_000001.10:g.85491946A>C	VUS	1 lab	b27cabb006
3:191093237 CCDC50 T>C	3	191093237	191093237	T	C	CCDC50	c.835T>C	NM_178335.2	NP_848018.1:p.(Ser279Pro)	NC_000003.11:g.191093237T>C	(Likely) benign	1 lab	b27e46492b
19:15271907 NOTCH3 G>A	19	15271907	15271907	G	A	NOTCH3	c.6532C>T	NM_000435.2	NP_000426.2:p.(Pro2178Ser)	NC_000019.9:g.15271907G>A	(Likely) benign	1 lab	b27f3a4dbc
9:108397484 FKTN A>G	9	108397484	108397484	A	G	FKTN	c.1325A>G	NM_006731.2	NP_006722.2:p.(Asn442Ser)	NC_000009.11:g.108397484A>G	VUS	1 lab	b281255197
X:66766450 AR C>T	X	66766450	66766450	C	T	AR	c.1462C>T	NM_000044.4	NP_000035.2:p.(Gln488Ter)	NC_000023.10:g.66766450C>T	(Likely) pathogenic	1 lab	b282fc8a9a
7:117307145 CFTR C>T	7	117307145	117307145	C	T	CFTR	c.4426C>T	NM_000492.3	NP_000483.3:p.(Gln1476Ter)	NC_000007.13:g.117307145C>T	(Likely) pathogenic	1 lab	b2838708cc
22:21224652 SNAP29 G>A	22	21224652	21224652	G	A	SNAP29	c.265G>A	NM_004782.3	NP_004773.1:p.(Glu89Lys)	NC_000022.10:g.21224652G>A	(Likely) benign	1 lab	b285b9c41e
10:115885699 CCDC186 G>A	10	115885699	115885699	G	A	CCDC186	c.2559C>T	NM_001321829.1	NP_001308758.1:p.(Asn853=)	NC_000010.10:g.115885699G>A	(Likely) benign	1 lab	b2880e6d74
2:234224738 SAG G>A	2	234224738	234224738	G	A	SAG	c.93G>A	NM_000541.4	NP_000532.2:p.(Gly31=)	NC_000002.11:g.234224738G>A	(Likely) benign	1 lab	b28969a99b
8:145004473 PLEC C>T	8	145004473	145004473	C	T	PLEC	c.2869-7G>A	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145004473C>T	(Likely) benign	1 lab	b28aad52f0
6:43488729 POLR1C C>T	6	43488729	43488729	C	T	POLR1C	c.865C>T	NM_001363658.1	NP_001350587.1:p.(Arg289Trp)	NC_000006.11:g.43488729C>T	VUS	1 lab	b28b6ccc57
7:47342785 TNS3 C>T	7	47342785	47342785	C	T	TNS3	c.3220G>A	NM_022748.12	NP_073585.8:p.(Ala1074Thr)	NC_000007.13:g.47342785C>T	(Likely) benign	1 lab	b28ba0c84e
4:79340189 FRAS1 C>T	4	79340189	79340189	C	T	FRAS1	c.4512C>T	NM_025074.7	NP_079350.5:p.(Asn1504=)	NC_000004.11:g.79340189C>T	(Likely) benign	1 lab	b28c6939bf
16:1636265 IFT140 C>T	16	1636265	1636265	C	T	IFT140	c.1021G>A	NM_014714.3	NP_055529.2:p.(Ala341Thr)	NC_000016.9:g.1636265C>T	VUS	1 lab	b28ca434ea
1:231473430 EXOC8 C>A	1	231473430	231473430	C	A	EXOC8	c.62G>T	NM_175876.4	NP_787072.2:p.(Gly21Val)	NC_000001.10:g.231473430C>A	VUS	1 lab	b28ce3226b
19:36558306 WDR62 T>C	19	36558306	36558306	T	C	WDR62	c.660T>C	NM_001083961.1	NP_001077430.1:p.(His220=)	NC_000019.9:g.36558306T>C	(Likely) benign	1 lab	b28d1a2ffb
9:117826095 TNC A>T	9	117826095	117826095	A	T	TNC	c.3740T>A	NM_002160.3	NP_002151.2:p.(Leu1247His)	NC_000009.11:g.117826095A>T	VUS	1 lab	b28e84dae8
19:6501395 TUBB4A G>T	19	6501395	6501395	G	T	TUBB4A	c.180C>A	NM_006087.4	NP_006078.2:p.(Val60=)	NC_000019.9:g.6501395G>T	(Likely) benign	1 lab	b290988157
13:32900639 BRCA2 C>T	13	32900639	32900639	C	T	BRCA2	c.520C>T	NM_000059.3	NP_000050.2:p.(Arg174Cys)	NC_000013.10:g.32900639C>T	VUS	1 lab	b291787cac
X:138619190 F9 C>T	X	138619190	138619190	C	T	F9	c.110C>T	NM_000133.3	NP_000124.1:p.(Ala37Val)	NC_000023.10:g.138619190C>T	VUS	1 lab	b2954604dd
17:29587341 NF1 G>C	17	29587341	29587341	G	C	NF1	c.4368-46G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587341G>C	(Likely) benign	1 lab	b296eb185c
11:67290795 CABP2 C>T	11	67290795	67290795	C	T	CABP2	c.17G>A	NM_001318496.1	NP_001305425.1:p.(Trp6Ter)	NC_000011.9:g.67290795C>T	(Likely) pathogenic	1 lab	b29a6beeaa
8:10469243 RP1L1 C>T	8	10469243	10469243	C	T	RP1L1	c.2365G>A	NM_178857.5	NP_849188.4:p.(Ala789Thr)	NC_000008.10:g.10469243C>T	(Likely) benign	1 lab	b29af162dc
16:2152920 PKD1 G>A	16	2152920	2152920	G	A	PKD1	c.8843C>T	NM_001009944.2	NP_001009944.2:p.(Ser2948Leu)	NC_000016.9:g.2152920G>A	(Likely) benign	1 lab	b29bbf536c
10:101639731 DNMBP G>A	10	101639731	101639731	G	A	DNMBP	c.4385C>T	NM_015221.4	NP_056036.1:p.(Thr1462Met)	NC_000010.10:g.101639731G>A	VUS	1 lab	b29c724867
9:27565556 C9orf72 T>C	9	27565556	27565556	T	C	C9orf72	c.477A>G	NM_001256054.1	NP_001242983.1:p.(Leu159=)	NC_000009.11:g.27565556T>C	(Likely) benign	1 lab	b29c93119d
1:27089585 ARID1A C>A	1	27089585	27089585	C	A	ARID1A	c.2541C>A	NM_006015.4	NP_006006.3:p.(Ile847=)	NC_000001.10:g.27089585C>A	(Likely) benign	1 lab	b29e964f0b
11:121489525 SORL1 C>T	11	121489525	121489525	C	T	SORL1	c.5647C>T	NM_003105.5	NP_003096.1:p.(Arg1883Cys)	NC_000011.9:g.121489525C>T	VUS	1 lab	b2a394bf81
3:128598549 ACAD9 G>T	3	128598549	128598549	G	T	ACAD9	c.15G>T	NM_014049.4	NP_054768.2:p.(Gly5=)	NC_000003.11:g.128598549G>T	(Likely) benign	1 lab	b2a3a10291
17:42992385 GFAP C>T	17	42992385	42992385	C	T	GFAP	c.461+9G>A	NM_001363846.1	NP_001350775.1:p.?	NC_000017.10:g.42992385C>T	(Likely) benign	1 lab	b2a4ce401d
11:71728831 NUMA1 G>C	11	71728831	71728831	G	C	NUMA1	c.1021C>G	NM_001286561.1	NP_001273490.1:p.(Leu341Val)	NC_000011.9:g.71728831G>C	(Likely) benign	1 lab	b2a52977cd
11:609407 PHRF1 C>T	11	609407	609407	C	T	PHRF1	c.3948C>T	NM_020901.3	NP_065952.2:p.(Ala1316=)	NC_000011.9:g.609407C>T	(Likely) benign	1 lab	b2a790abc4
3:14712403 CCDC174 A>G	3	14712403	14712403	A	G	CCDC174	c.1106A>G	NM_016474.4	NP_057558.3:p.(Glu369Gly)	NC_000003.11:g.14712403A>G	VUS	1 lab	b2aad356c0
X:10058885 WWC3 G>A	X	10058885	10058885	G	A	WWC3	c.452G>A	NM_015691.3	NP_056506.2:p.(Arg151Gln)	NC_000023.10:g.10058885G>A	VUS	1 lab	b2ac038bf6
6:31915533 CFB G>A	6	31915533	31915533	G	A	CFB	c.673G>A	NM_001710.5	NP_001701.2:p.(Asp225Asn)	NC_000006.11:g.31915533G>A	VUS	1 lab	b2ac76962b
16:30381479 TBC1D10B A>T	16	30381479	30381479	A	T	TBC1D10B	c.26T>A	NM_015527.4	NP_056342.3:p.(Val9Glu)	NC_000016.9:g.30381479A>T	(Likely) benign	1 lab	b2acbf80e1
X:49081423 CACNA1F A>G	X	49081423	49081423	A	G	CACNA1F	c.1710T>C	NM_005183.3	NP_005174.2:p.(Cys570=)	NC_000023.10:g.49081423A>G	(Likely) benign	1 lab	b2ad491ceb
X:38178134 RPGR C>T	X	38178134	38178134	C	T	RPGR	c.417G>A	NM_001034853.1	NP_001030025.1:p.(Glu139=)	NC_000023.10:g.38178134C>T	(Likely) benign	1 lab	b2b0059925
11:128680646 FLI1 C>T	11	128680646	128680646	C	T	FLI1	c.924C>T	NM_001271010.1	NP_001257939.1:p.(Thr308=)	NC_000011.9:g.128680646C>T	(Likely) benign	1 lab	b2b08fce8c
11:72410114 ARAP1 C>T	11	72410114	72410114	C	T	ARAP1	c.2477G>A	NM_001040118.2	NP_001035207.1:p.(Arg826Gln)	NC_000011.9:g.72410114C>T	VUS	1 lab	b2b0acbbaa
15:93563384 CHD2 C>T	15	93563384	93563384	C	T	CHD2	c.5049C>T	NM_001271.3	NP_001262.3:p.(Ala1683=)	NC_000015.9:g.93563384C>T	(Likely) benign	1 lab	b2b1cef1c5
9:138905801 NACC2 T>C	9	138905801	138905801	T	C	NACC2	c.1066A>G	NM_144653.5	NP_653254.1:p.(Ile356Val)	NC_000009.11:g.138905801T>C	VUS	1 lab	b2b2351131
12:53189313 KRT3 C>G	12	53189313	53189313	C	G	KRT3	c.514G>C	NM_057088.2	NP_476429.2:p.(Glu172Gln)	NC_000012.11:g.53189313C>G	VUS	1 lab	b2b3b98c65
3:41266609 CTNNB1 GT>G	3	41266609	41266611	GT	G	CTNNB1	c.408del	NM_001904.4	NP_001895.1:p.(Val137Ter)	NC_000003.11:g.41266611del	(Likely) pathogenic	1 lab	b2b7a59efd
1:39833896 MACF1 G>A	1	39833896	39833896	G	A	MACF1	c.6662G>A	NM_012090.5	NP_036222.3:p.(Cys2221Tyr)	NC_000001.10:g.39833896G>A	VUS	1 lab	b2bb2849dd
19:38590615 SIPA1L3 G>A	19	38590615	38590615	G	A	SIPA1L3	c.1679G>A	NM_015073.2	NP_055888.1:p.(Arg560Gln)	NC_000019.9:g.38590615G>A	VUS	1 lab	b2bd497385
7:2584628 BRAT1 G>A	7	2584628	2584628	G	A	BRAT1	c.345C>T	NM_001350626.1	NP_001337555.1:p.(Ala115=)	NC_000007.13:g.2584628G>A	(Likely) benign	1 lab	b2be1465fe
2:130912766 SMPD4 C>T	2	130912766	130912766	C	T	SMPD4	c.1473G>A	NM_017951.4	NP_060421.2:p.(Ala491=)	NC_000002.11:g.130912766C>T	(Likely) benign	1 lab	b2be9e7953
16:2106227 TSC2 G>A	16	2106227	2106227	G	A	TSC2	c.630G>A	NM_000548.3	NP_000539.2:p.(Ala210=)	NC_000016.9:g.2106227G>A	(Likely) benign	1 lab	b2bea1efa7
2:15307368 NBAS GGA>G	2	15307368	15307371	GGA	G	NBAS	c.6918_6919del	NM_015909.4	NP_056993.2:p.(Pro2307LeufsTer7)	NC_000002.11:g.15307370_15307371del	(Likely) pathogenic	1 lab	b2c067ea92
11:47317054 MADD A>G	11	47317054	47317054	A	G	MADD	c.3524A>G	NM_003682.3	NP_003673.3:p.(Asp1175Gly)	NC_000011.9:g.47317054A>G	VUS	1 lab	b2c06d68fe
17:44101376 MAPT G>A	17	44101376	44101376	G	A	MAPT	c.1165G>A	NM_005910.5	NP_005901.2:p.(Gly389Arg)	NC_000017.10:g.44101376G>A	(Likely) pathogenic	1 lab	b2c0e5d001
1:237617741 RYR2 C>T	1	237617741	237617741	C	T	RYR2	c.1343C>T	NM_001035.2	NP_001026.2:p.(Pro448Leu)	NC_000001.10:g.237617741C>T	VUS	1 lab	b2c163670b
22:50659248 TUBGCP6 G>A	22	50659248	50659248	G	A	TUBGCP6	c.3540C>T	NM_020461.3	NP_065194.2:p.(Pro1180=)	NC_000022.10:g.50659248G>A	(Likely) benign	1 lab	b2c230748b
17:78021061 CCDC40 G>C	17	78021061	78021061	G	C	CCDC40	c.553-17G>C	NM_017950.3	NP_060420.2:p.?	NC_000017.10:g.78021061G>C	(Likely) benign	1 lab	b2c2e07ceb
2:179638266 TTN C>T	2	179638266	179638266	C	T	TTN	c.7517G>A	NM_001267550.1	NP_001254479.1:p.(Arg2506Gln)	NC_000002.11:g.179638266C>T	VUS	1 lab	b2c33dd467
X:54496778 FGD1 C>T	X	54496778	54496778	C	T	FGD1	c.772G>A	NM_004463.2	NP_004454.2:p.(Glu258Lys)	NC_000023.10:g.54496778C>T	VUS	1 lab	b2c4287936
2:86280119 POLR1A A>G	2	86280119	86280119	A	G	POLR1A	c.2213T>C	NM_015425.5	NP_056240.2:p.(Ile738Thr)	NC_000002.11:g.86280119A>G	VUS	1 lab	b2c4c64cd2
X:2970226 MISSING T>Alt too long to show for this DUP	X	2970226	3150739	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2970227_3150739dup	VUS	1 lab	31d6dc0d97
14:105414273 AHNAK2 C>T	14	105414273	105414273	C	T	AHNAK2	c.7515G>A	NM_138420.3	NP_612429.2:p.(Ser2505=)	NC_000014.8:g.105414273C>T	(Likely) benign	1 lab	b2c890fdcd
14:90451545 TDP1 A>G	14	90451545	90451545	A	G	TDP1	c.1122A>G	NM_018319.3	NP_060789.2:p.(Arg374=)	NC_000014.8:g.90451545A>G	(Likely) benign	1 lab	b2c9b16cdb
12:113629192 RITA1 C>T	12	113629192	113629192	C	T	RITA1	c.452C>T	NM_001286215.1	NP_001273144.1:p.(Pro151Leu)	NC_000012.11:g.113629192C>T	VUS	1 lab	b2cf5f416a
16:49672261 ZNF423 A>C	16	49672261	49672261	A	C	ZNF423	c.622T>G	NM_001271620.2	NP_001258549.1:p.(Cys208Gly)	NC_000016.9:g.49672261A>C	VUS	1 lab	b2cf6c8748
X:84614571 POF1B A>G	X	84614571	84614571	A	G	POF1B	c.422T>C	NM_024921.3	NP_079197.3:p.(Val141Ala)	NC_000023.10:g.84614571A>G	(Likely) benign	1 lab	b2d08d0b5a
10:81372996 SFTPA1 G>T	10	81372996	81372996	G	T	SFTPA1	c.344G>T	NM_005411.4	NP_005402.3:p.(Arg115Ile)	NC_000010.10:g.81372996G>T	VUS	1 lab	b2d1935c8e
14:23891501 MYH7 G>A	14	23891501	23891501	G	A	MYH7	c.3133C>T	NM_000257.2	NP_000248.2:p.(Arg1045Cys)	NC_000014.8:g.23891501G>A	(Likely) pathogenic	1 lab	b2d3de51e8
X:64957130 MSN A>G	X	64957130	64957130	A	G	MSN	c.1181A>G	NM_002444.2	NP_002435.1:p.(Gln394Arg)	NC_000023.10:g.64957130A>G	(Likely) benign	1 lab	b2d45e7a73
10:37425568 ANKRD30A A>G	10	37425568	37425568	A	G	ANKRD30A	c.621A>G	NM_052997.2	NP_443723.2:p.(Lys207=)	NC_000010.10:g.37425568A>G	(Likely) benign	1 lab	b2d68222a2
6:7581556 DSP G>A	6	7581556	7581556	G	A	DSP	c.5133G>A	NM_004415.2	NP_004406.2:p.(Glu1711=)	NC_000006.11:g.7581556G>A	(Likely) benign	1 lab	b2d6b3145d
4:1389062 CRIPAK C>T	4	1389062	1389062	C	T	CRIPAK	c.763C>T	NM_175918.3	NP_787114.2:p.(Arg255Ter)	NC_000004.11:g.1389062C>T	VUS	1 lab	b2d78ef6f3
12:132445443 EP400 A>G	12	132445443	132445443	A	G	EP400	c.279A>G	NM_015409.4	NP_056224.3:p.(Pro93=)	NC_000012.11:g.132445443A>G	(Likely) benign	1 lab	b2d7d3f802
12:111351003 MYL2 A>G	12	111351003	111351003	A	G	MYL2	c.353+47T>C	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351003A>G	(Likely) benign	1 lab	b2d95790d7
16:57738884 DRC7 A>C	16	57738884	57738884	A	C	DRC7	c.796A>C	NM_001289162.1	NP_001276091.1:p.(Lys266Gln)	NC_000016.9:g.57738884A>C	(Likely) benign	1 lab	b2d965eece
X:100092325 CSTF2 T>C	X	100092325	100092325	T	C	CSTF2	c.1561-3T>C	NM_001306206.1	NP_001293135.1:p.?	NC_000023.10:g.100092325T>C	(Likely) benign	1 lab	b2d9c7833d
16:27752176 KATNIP G>A	16	27752176	27752176	G	A	KATNIP	c.2558G>A	NM_015202.3	NP_056017.3:p.(Gly853Glu)	NC_000016.9:g.27752176G>A	VUS	1 lab	b2dda66cde
5:89985746 ADGRV1 A>G	5	89985746	89985746	A	G	ADGRV1	c.6559A>G	NM_032119.4	NP_115495.3:p.(Ile2187Val)	NC_000005.9:g.89985746A>G	VUS	1 lab	b2de7a2f1e
15:67073814 SMAD6 C>T	15	67073814	67073814	C	T	SMAD6	c.1432C>T	NM_005585.4	NP_005576.3:p.(Arg478Trp)	NC_000015.9:g.67073814C>T	VUS	1 lab	b2de917f58
16:2129052 TSC2 AC>A	16	2129052	2129054	AC	A	TSC2	c.2988del	NM_000548.5	NP_000539.2:p.(Ser997ValfsTer19)	NC_000016.9:g.2129054del	(Likely) pathogenic	1 lab	b2e11fd3d9
9:2622278 VLDLR G>A	9	2622278	2622278	G	A	VLDLR	c.82+7G>A	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2622278G>A	(Likely) benign	1 lab	b2e288121c
4:107157562 TBCK G>A	4	107157562	107157562	G	A	TBCK	c.819C>T	NM_001290768.1	NP_001277697.1:p.(Phe273=)	NC_000004.11:g.107157562G>A	(Likely) benign	1 lab	b2e30b519c
17:41246452 BRCA1 C>G	17	41246452	41246452	C	G	BRCA1	c.1096G>C	NM_007294.3	NP_009225.1:p.(Asp366His)	NC_000017.10:g.41246452C>G	(Likely) benign	1 lab	b2e41039dc
17:47219492 B4GALNT2 TG>T	17	47219492	47219493	TG	T	B4GALNT2	c.312del	NM_001159387.2	NP_001152859.1:p.(Ala106ArgfsTer39)	NC_000017.10:g.47219493del	VUS	1 lab	b2e4aacb33
Y:14832673 USP9Y G>C	Y	14832673	14832673	G	C	USP9Y	c.245+3G>C	NM_004654.3	NP_004645.2:p.?	NC_000024.9:g.14832673G>C	VUS	1 lab	b2e5cefa4d
X:135427339 ADGRG4 C>T	X	135427339	135427339	C	T	ADGRG4	c.1474C>T	NM_153834.3	NP_722576.3:p.(Pro492Ser)	NC_000023.10:g.135427339C>T	(Likely) benign	1 lab	b2e7f98384
9:140115357 RNF208 G>A	9	140115357	140115357	G	A	RNF208	c.308C>T	NM_031297.4	NP_112587.2:p.(Ser103Leu)	NC_000009.11:g.140115357G>A	(Likely) benign	1 lab	b2e88a6729
X:12708406 FRMPD4 G>A	X	12708406	12708406	G	A	FRMPD4	c.774G>A	NM_014728.3	NP_055543.2:p.(Thr258=)	NC_000023.10:g.12708406G>A	(Likely) benign	1 lab	b2e97b2cae
9:135802637 TSC1 G>GA	9	135802637	135802638	G	GA	TSC1	c.160dup	NM_000368.4	NP_000359.1:p.(Ser54PhefsTer16)	NC_000009.11:g.135802638dup	(Likely) pathogenic	1 lab	b2eb376dc5
1:100376305 AGL A>T	1	100376305	100376305	A	T	AGL	c.3738A>T	NM_000028.2	NP_000019.2:p.(Gly1246=)	NC_000001.10:g.100376305A>T	(Likely) benign	1 lab	b2eb86f986
3:52090325 DUSP7 C>A	3	52090325	52090325	C	A	DUSP7	c.58G>T	NM_001947.4	NP_001938.2:p.(Ala20Ser)	NC_000003.11:g.52090325C>A	(Likely) benign	1 lab	b2ec87108d
4:113568849 LARP7 T>C	4	113568849	113568849	T	C	LARP7	c.1022T>C	NM_001267039.1	NP_001253968.1:p.(Ile341Thr)	NC_000004.11:g.113568849T>C	(Likely) benign	1 lab	b2f19cd30e
4:6303821 WFS1 A>C	4	6303821	6303821	A	C	WFS1	c.2299A>C	NM_006005.3	NP_005996.2:p.(Ile767Leu)	NC_000004.11:g.6303821A>C	VUS	1 lab	b2f2519777
17:18023959 MYO15A T>C	17	18023959	18023959	T	C	MYO15A	c.1845T>C	NM_016239.3	NP_057323.3:p.(Ala615=)	NC_000017.10:g.18023959T>C	(Likely) benign	1 lab	b2f30fd83c
1:22181256 HSPG2 A>G	1	22181256	22181256	A	G	HSPG2	c.6139T>C	NM_001291860.1	NP_001278789.1:p.(Ser2047Pro)	NC_000001.10:g.22181256A>G	VUS	1 lab	b2f3b021d9
9:108382340 FKTN C>A	9	108382340	108382340	C	A	FKTN	c.1170C>A	NM_006731.2	NP_006722.2:p.(Phe390Leu)	NC_000009.11:g.108382340C>A	VUS	1 lab	b2f490c911
3:178938747 PIK3CA A>T	3	178938747	178938747	A	T	PIK3CA	c.2016-27A>T	NM_006218.2	NP_006209.2:p.?	NC_000003.11:g.178938747A>T	(Likely) benign	1 lab	b2f4db5a09
15:42152855 SPTBN5 G>A	15	42152855	42152855	G	A	SPTBN5	c.7917C>T	NM_016642.4	NP_057726.4:p.(Ala2639=)	NC_000015.9:g.42152855G>A	(Likely) benign	1 lab	b2f4fead34
8:144998811 PLEC G>A	8	144998811	144998811	G	A	PLEC	c.5697C>T	NM_201380.3	NP_958782.1:p.(Ala1899=)	NC_000008.10:g.144998811G>A	(Likely) benign	1 lab	b2f51d3d56
17:72878731 MISSING C>G	17	72878731	72878731	C	G	MISSING				NC_000017.10:g.72878731C>G	(Likely) benign	1 lab	b2f7c103c7
7:4824662 AP5Z1 T>C	7	4824662	4824662	T	C	AP5Z1	c.914T>C	NM_014855.3	NP_055670.1:p.(Ile305Thr)	NC_000007.13:g.4824662T>C	VUS	1 lab	b2f833404d
16:1412898 GNPTG A>G	16	1412898	1412898	A	G	GNPTG	c.814A>G	NM_032520.4	NP_115909.1:p.(Arg272Gly)	NC_000016.9:g.1412898A>G	(Likely) benign	1 lab	b2fb12d013
22:46931858 CELSR1 C>T	22	46931858	46931858	C	T	CELSR1	c.1210G>A	NM_014246.1	NP_055061.1:p.(Glu404Lys)	NC_000022.10:g.46931858C>T	(Likely) benign	1 lab	b2fb609921
19:42855845 MEGF8 C>T	19	42855845	42855845	C	T	MEGF8	c.3033C>T	NM_001271938.2	NP_001258867.1:p.(Thr1011=)	NC_000019.9:g.42855845C>T	(Likely) benign	1 lab	b2fbf98ab6
1:10678471 PEX14 C>T	1	10678471	10678471	C	T	PEX14	c.381C>T	NM_004565.2	NP_004556.1:p.(Tyr127=)	NC_000001.10:g.10678471C>T	(Likely) benign	1 lab	b2fd09c678
11:6648839 DCHS1 G>A	11	6648839	6648839	G	A	DCHS1				NC_000011.9:g.6648839G>A	VUS	1 lab	b2ff9e64aa
2:74762802 LOXL3 G>A	2	74762802	74762802	G	A	LOXL3	c.1329C>T	NM_032603.4	NP_115992.1:p.(Gly443=)	NC_000002.11:g.74762802G>A	(Likely) benign	1 lab	b2ffc4c192
16:2134712 TSC2 C>T	16	2134712	2134712	C	T	TSC2	c.4489C>T	NM_000548.3	NP_000539.2:p.(Pro1497Ser)	NC_000016.9:g.2134712C>T	(Likely) pathogenic	1 lab	b3017aa2fd
4:36292082 DTHD1 C>T	4	36292082	36292082	C	T	DTHD1	c.600C>T	NM_001170700.2	NP_001164171.1:p.(Cys200=)	NC_000004.11:g.36292082C>T	(Likely) benign	1 lab	b30261a157
19:3612268 CACTIN G>A	19	3612268	3612268	G	A	CACTIN	c.1930C>T	NM_001080543.2	NP_001074012.1:p.(Arg644Cys)	NC_000019.9:g.3612268G>A	VUS	1 lab	b302a2174d
3:15685958 BTD G>A	3	15685958	15685958	G	A	BTD	c.595G>A	NM_000060.4	NP_000051.1:p.(Val199Met)	NC_000003.11:g.15685958G>A	(Likely) pathogenic	1 lab	b3036d135c
17:40764531 TUBG1 T>C	17	40764531	40764531	T	C	TUBG1	c.479+7T>C	NM_001070.4	NP_001061.2:p.?	NC_000017.10:g.40764531T>C	(Likely) benign	1 lab	b3061968f2
6:152728223 SYNE1 C>T	6	152728223	152728223	C	T	SYNE1	c.6649G>A	NM_182961.3	NP_892006.3:p.(Val2217Ile)	NC_000006.11:g.152728223C>T	(Likely) benign	1 lab	b306639a6f
X:54783528 ITIH6 G>C	X	54783528	54783528	G	C	ITIH6	c.2979C>G	NM_198510.2	NP_940912.1:p.(Leu993=)	NC_000023.10:g.54783528G>C	(Likely) benign	1 lab	b306a76c91
X:153633336 DNASE1L1 C>T	X	153633336	153633336	C	T	DNASE1L1	c.224G>A	NM_006730.3	NP_006721.1:p.(Arg75Gln)	NC_000023.10:g.153633336C>T	(Likely) benign	1 lab	b30739b0a5
1:47881992 FOXE3 C>T	1	47881992	47881992	C	T	FOXE3	c.5C>T	NM_012186.2	NP_036318.1:p.(Ala2Val)	NC_000001.10:g.47881992C>T	VUS	1 lab	b30927c9dd
X:103349835 SLC25A53 C>T	X	103349835	103349835	C	T	SLC25A53	c.106G>A	NM_001012755.5	NP_001012773.2:p.(Val36Ile)	NC_000023.10:g.103349835C>T	(Likely) benign	1 lab	b30a3bd21e
1:226127075 LEFTY2 G>C	1	226127075	226127075	G	C	LEFTY2	c.723C>G	NM_003240.4	NP_003231.2:p.(Asp241Glu)	NC_000001.10:g.226127075G>C	VUS	1 lab	b30af61d84
12:80749570 OTOGL G>A	12	80749570	80749570	G	A	OTOGL	c.5621G>A	NM_173591.3	NP_775862.3:p.(Gly1874Asp)	NC_000012.11:g.80749570G>A	(Likely) benign	1 lab	b30fc86885
6:24843183 RIPOR2 A>G	6	24843183	24843183	A	G	RIPOR2	c.1827T>C	NM_014722.4	NP_055537.2:p.(Asn609=)	NC_000006.11:g.24843183A>G	(Likely) benign	1 lab	b30ffb7522
6:17637975 NUP153 C>A	6	17637975	17637975	C	A	NUP153	c.1966G>T	NM_001278209.1	NP_001265138.1:p.(Val656Phe)	NC_000006.11:g.17637975C>A	(Likely) benign	1 lab	b31128eee1
X:153993762 DKC1 A>G	X	153993762	153993762	A	G	DKC1	c.128A>G	NM_001288747.1	NP_001275676.1:p.(Lys43Arg)	NC_000023.10:g.153993762A>G	VUS	1 lab	b3115166f7
5:78328556 DMGDH C>G	5	78328556	78328556	C	G	DMGDH	c.1471G>C	NM_013391.3	NP_037523.2:p.(Glu491Gln)	NC_000005.9:g.78328556C>G	VUS	1 lab	b3116e9ab6
16:69711172 NFAT5 A>G	16	69711172	69711172	A	G	NFAT5	c.1342A>G	NM_138714.3	NP_619728.2:p.(Ile448Val)	NC_000016.9:g.69711172A>G	(Likely) benign	1 lab	b311a83fbd
9:140094341 TPRN G>T	9	140094341	140094341	G	T	TPRN	c.823C>A	NM_001128228.3	NP_001121700.2:p.(Pro275Thr)	NC_000009.11:g.140094341G>T	(Likely) benign	1 lab	b31394e2a2
1:47716962 STIL A>C	1	47716962	47716962	A	C	STIL	c.3713T>G	NM_001048166.1	NP_001041631.1:p.(Phe1238Cys)	NC_000001.10:g.47716962A>C	VUS	1 lab	b313f13cef
16:2125758 TSC2 ACGGGACCCCGGCTC>A	16	2125758	2125773	ACGGGACCCCGGCTC	A	TSC2	c.2546-40_2546-27del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2125760_2125773del	(Likely) pathogenic	1 lab	b3155805ab
X:9652080 TBL1X C>T	X	9652080	9652080	C	T	TBL1X	c.212-3C>T	NM_005647.3	NP_005638.1:p.?	NC_000023.10:g.9652080C>T	(Likely) benign	1 lab	b317054fc6
11:118376007 KMT2A C>T	11	118376007	118376007	C	T	KMT2A	c.9400C>T	NM_001197104.1	NP_001184033.1:p.(Leu3134Phe)	NC_000011.9:g.118376007C>T	VUS	1 lab	b318125c6a
18:77477936 CTDP1 G>A	18	77477936	77477936	G	A	CTDP1	c.2337G>A	NM_004715.4	NP_004706.3:p.(Gly779=)	NC_000018.9:g.77477936G>A	VUS	1 lab	b3182030c9
6:91266240 MAP3K7 T>C	6	91266240	91266240	T	C	MAP3K7	c.586A>G	NM_145331.2	NP_663304.1:p.(Met196Val)	NC_000006.11:g.91266240T>C	VUS	1 lab	b318a46624
11:70666531 SHANK2 C>T	11	70666531	70666531	C	T	SHANK2	c.1431G>A	NM_012309.4	NP_036441.2:p.(Ser477=)	NC_000011.9:g.70666531C>T	VUS	1 lab	b318b1403c
20:35242838 SLA2 G>T	20	35242838	35242838	G	T	SLA2	c.535C>A	NM_032214.3	NP_115590.1:p.(Leu179Met)	NC_000020.10:g.35242838G>T	(Likely) benign	1 lab	b319818d46
16:2158571 PKD1 C>T	16	2158571	2158571	C	T	PKD1	c.6597G>A	NM_001009944.2	NP_001009944.2:p.(Gly2199=)	NC_000016.9:g.2158571C>T	(Likely) benign	1 lab	b3199a8ce5
4:6303874 WFS1 C>T	4	6303874	6303874	C	T	WFS1	c.2352C>T	NM_006005.3	NP_005996.2:p.(Ser784=)	NC_000004.11:g.6303874C>T	(Likely) benign	1 lab	b319f87616
3:128200782 GATA2 G>A	3	128200782	128200782	G	A	GATA2	c.1023C>T	NM_001145661.1	NP_001139133.1:p.(Ala341=)	NC_000003.11:g.128200782G>A	(Likely) benign	1 lab	b31a4d63f2
5:176637431 NSD1 T>G	5	176637431	176637431	T	G	NSD1	c.2031T>G	NM_022455.4	NP_071900.2:p.(Ser677=)	NC_000005.9:g.176637431T>G	(Likely) benign	1 lab	b31a82fc2c
16:81902911 PLCG2 T>A	16	81902911	81902911	T	A	PLCG2	c.564+8T>A	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81902911T>A	(Likely) benign	1 lab	b31c9c2873
22:26849333 HPS4 T>A	22	26849333	26849333	T	A	HPS4	c.1993A>T	NM_022081.5	NP_071364.4:p.(Ile665Phe)	NC_000022.10:g.26849333T>A	(Likely) benign	1 lab	b31cb5ba51
2:32477543 NLRC4 A>G	2	32477543	32477543	A	G	NLRC4	c.207T>C	NM_021209.4	NP_067032.3:p.(Phe69=)	NC_000002.11:g.32477543A>G	(Likely) benign	1 lab	b31cd99cb9
13:25161358 TPTE2P6 C>G	13	25161358	25161358	C	G	TPTE2P6	n.1930-6C>G	NR_002815.2		NC_000013.10:g.25161358C>G	VUS	1 lab	0167c667de
22:37627372 RAC2 T>C	22	37627372	37627372	T	C	RAC2	c.347A>G	NM_002872.3	NP_002863.1:p.(Lys116Arg)	NC_000022.10:g.37627372T>C	VUS	1 lab	b31d18a80a
10:101960418 CHUK G>A	10	101960418	101960418	G	A	CHUK	c.1679+10C>T	NM_001278.4	NP_001269.3:p.?	NC_000010.10:g.101960418G>A	(Likely) benign	1 lab	b31d3b334a
8:20073976 ATP6V1B2 C>A	8	20073976	20073976	C	A	ATP6V1B2	c.1131C>A	NM_001693.3	NP_001684.2:p.(Ile377=)	NC_000008.10:g.20073976C>A	(Likely) benign	1 lab	b31d496bd4
2:26750773 OTOF C>T	2	26750773	26750773	C	T	OTOF	c.154G>A	NM_194248.2	NP_919224.1:p.(Val52Met)	NC_000002.11:g.26750773C>T	VUS	1 lab	b31d76a0d5
X:69516914 KIF4A C>T	X	69516914	69516914	C	T	KIF4A	c.302C>T	NM_012310.4	NP_036442.3:p.(Ala101Val)	NC_000023.10:g.69516914C>T	(Likely) benign	1 lab	b31e9c0b2e
9:136303453 ADAMTS13 C>T	9	136303453	136303453	C	T	ADAMTS13	c.1672C>T	NM_139025.4	NP_620594.1:p.(Arg558Trp)	NC_000009.11:g.136303453C>T	VUS	1 lab	b3209fc7cf
11:9069080 MISSING G>A	11	9069080	9069080	G	A	MISSING				NC_000011.9:g.9069080G>A	VUS	1 lab	b320a5a2bb
17:29422402 NF1 G>A	17	29422402	29422402	G	A	NF1	c.60+15G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29422402G>A	(Likely) benign	1 lab	b321fe714c
3:3170791 TRNT1 C>G	3	3170791	3170791	C	G	TRNT1	c.67C>G	NM_182916.3	NP_886552.3:p.(Pro23Ala)	NC_000003.11:g.3170791C>G	(Likely) benign	1 lab	b3238f11ea
4:79400847 FRAS1 G>A	4	79400847	79400847	G	A	FRAS1	c.8418G>A	NM_025074.7	NP_079350.5:p.(Thr2806=)	NC_000004.11:g.79400847G>A	(Likely) benign	1 lab	b324c8eb54
17:29585423 NF1 G>C	17	29585423	29585423	G	C	NF1	c.4172G>C	NM_000267.3	NP_000258.1:p.(Arg1391Thr)	NC_000017.10:g.29585423G>C	(Likely) pathogenic	1 lab	b324fe1e24
1:47735551 STIL T>C	1	47735551	47735551	T	C	STIL	c.2384-13A>G	NM_001048166.1	NP_001041631.1:p.?	NC_000001.10:g.47735551T>C	(Likely) benign	1 lab	b3255a9b23
1:197091111 ASPM T>C	1	197091111	197091111	T	C	ASPM	c.3804A>G	NM_018136.4	NP_060606.3:p.(Arg1268=)	NC_000001.10:g.197091111T>C	(Likely) benign	1 lab	b325b6db39
10:72360562 PRF1 G>A	10	72360562	72360562	G	A	PRF1	c.97C>T	NM_001083116.1	NP_001076585.1:p.(Arg33Cys)	NC_000010.10:g.72360562G>A	VUS	1 lab	b32630c8d3
7:4830946 AP5Z1 C>G	7	4830946	4830946	C	G	AP5Z1	c.2354C>G	NM_014855.3	NP_055670.1:p.(Thr785Arg)	NC_000007.13:g.4830946C>G	VUS	1 lab	b326bb1a8c
1:197071202 ASPM A>T	1	197071202	197071202	A	T	ASPM	c.7179T>A	NM_018136.4	NP_060606.3:p.(Ala2393=)	NC_000001.10:g.197071202A>T	(Likely) benign	1 lab	b3276df20c
X:48934079 WDR45 G>A	X	48934079	48934079	G	A	WDR45	c.439+10C>T	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48934079G>A	VUS	1 lab	b328453898
22:50307121 ALG12 G>A	22	50307121	50307121	G	A	ALG12	c.207C>T	NM_024105.3	NP_077010.1:p.(Leu69=)	NC_000022.10:g.50307121G>A	(Likely) benign	1 lab	b3290db180
21:46888199 COL18A1 C>T	21	46888199	46888199	C	T	COL18A1	c.1395C>T	NM_130444.3	NP_569711.2:p.(Asp465=)	NC_000021.8:g.46888199C>T	(Likely) benign	1 lab	b32924cb66
17:8784998 PIK3R5 C>A	17	8784998	8784998	C	A	PIK3R5	c.1173G>T	NM_001251851.1	NP_001238780.1:p.(Leu391=)	NC_000017.10:g.8784998C>A	(Likely) benign	1 lab	b32934804d
17:29684295 NF1 G>A	17	29684295	29684295	G	A	NF1	c.7815G>A	NM_000267.3	NP_000258.1:p.(Leu2605=)	NC_000017.10:g.29684295G>A	(Likely) benign	1 lab	b32972c563
X:152991452 ABCD1 C>T	X	152991452	152991452	C	T	ABCD1	c.731C>T	NM_000033.3	NP_000024.2:p.(Ser244Leu)	NC_000023.10:g.152991452C>T	VUS	1 lab	b329b4a43e
6:129823804 LAMA2 G>C	6	129823804	129823804	G	C	LAMA2	c.8245G>C	NM_000426.3	NP_000417.2:p.(Gly2749Arg)	NC_000006.11:g.129823804G>C	VUS	1 lab	b32bc595b2
6:7565674 DSP A>G	6	7565674	7565674	A	G	DSP	c.860A>G	NM_004415.2	NP_004406.2:p.(Asn287Ser)	NC_000006.11:g.7565674A>G	VUS	1 lab	b32ca82430
21:47831522 PCNT G>A	21	47831522	47831522	G	A	PCNT	c.5535G>A	NM_006031.5	NP_006022.3:p.(Arg1845=)	NC_000021.8:g.47831522G>A	(Likely) benign	1 lab	b32cc32fec
2:219922304 IHH G>T	2	219922304	219922304	G	T	IHH	c.428C>A	NM_002181.3	NP_002172.2:p.(Ser143Tyr)	NC_000002.11:g.219922304G>T	VUS	1 lab	b32e172703
3:142840139 CHST2 G>C	3	142840139	142840139	G	C	CHST2	c.481G>C	NM_004267.4	NP_004258.2:p.(Gly161Arg)	NC_000003.11:g.142840139G>C	(Likely) benign	1 lab	b32ecd5446
21:47858151 PCNT G>A	21	47858151	47858151	G	A	PCNT	c.9174G>A	NM_006031.5	NP_006022.3:p.(Ala3058=)	NC_000021.8:g.47858151G>A	(Likely) benign	1 lab	b32efc06be
1:68912521 RPE65 G>A	1	68912521	68912521	G	A	RPE65	c.117C>T	NM_000329.2	NP_000320.1:p.(Thr39=)	NC_000001.10:g.68912521G>A	(Likely) benign	1 lab	b32f6fc1ef
7:130044507 CEP41 G>C	7	130044507	130044507	G	C	CEP41	c.320C>G	NM_018718.2	NP_061188.1:p.(Ala107Gly)	NC_000007.13:g.130044507G>C	(Likely) benign	1 lab	b3312f871e
6:145124230 UTRN C>T	6	145124230	145124230	C	T	UTRN	c.9304C>T	NM_007124.2	NP_009055.2:p.(Arg3102Ter)	NC_000006.11:g.145124230C>T	VUS	1 lab	b333d97956
3:129223215 IFT122 G>A	3	129223215	129223215	G	A	IFT122	c.2754G>A	NM_052985.3	NP_443711.2:p.(Pro918=)	NC_000003.11:g.129223215G>A	(Likely) benign	1 lab	b33513cc74
17:29684357 NF1 GT>G	17	29684357	29684358	GT	G	NF1	c.7941del	NM_001042492.3	NP_001035957.1:p.(Ser2647ArgfsTer32)	NC_000017.10:g.29684358del	(Likely) pathogenic	1 lab	b335d36e21
17:41245636 BRCA1 C>T	17	41245636	41245636	C	T	BRCA1	c.1912G>A	NM_007294.3	NP_009225.1:p.(Glu638Lys)	NC_000017.10:g.41245636C>T	VUS	1 lab	b3376ad9d0
1:197055928 ASPM C>T	1	197055928	197055928	C	T	ASPM	c.10331+5G>A	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197055928C>T	VUS	1 lab	b339ee7d01
13:23905282 SACS ACT>A	13	23905282	23905284	ACT	A	SACS	c.12731_12732del	NM_014363.6	NP_055178.3:p.(Lys4244IlefsTer5)	NC_000013.10:g.23905283_23905284del	(Likely) pathogenic	1 lab	b33a69823d
X:18919719 PHKA2 G>A	X	18919719	18919719	G	A	PHKA2	c.2911C>T	NM_000292.2	NP_000283.1:p.(Arg971Cys)	NC_000023.10:g.18919719G>A	VUS	1 lab	b33aab72eb
1:89522762 GBP1 C>T	1	89522762	89522762	C	T	GBP1	c.930G>A	NM_002053.3	NP_002044.2:p.(Pro310=)	NC_000001.10:g.89522762C>T	(Likely) benign	1 lab	b33ed8cd8e
17:34859015 MYO19 G>A	17	34859015	34859015	G	A	MYO19	c.2002C>T	NM_001163735.1	NP_001157207.1:p.(Arg668Ter)	NC_000017.10:g.34859015G>A	VUS	1 lab	b342542733
22:38508219 PLA2G6 A>C	22	38508219	38508219	A	C	PLA2G6	c.2370T>G	NM_003560.2	NP_003551.2:p.(Tyr790Ter)	NC_000022.10:g.38508219A>C	(Likely) pathogenic	1 lab	b34459b303
16:81142872 MISSING C>T	16	81142872	81142872	C	T	MISSING				NC_000016.9:g.81142872C>T	VUS	1 lab	b344bb6901
X:30236743 MAGEB2 C>T	X	30236743	30236743	C	T	MAGEB2	c.46C>T	NM_002364.4	NP_002355.2:p.(Arg16Cys)	NC_000023.10:g.30236743C>T	(Likely) benign	1 lab	b3453ab721
2:209153495 PIKFYVE A>G	2	209153495	209153495	A	G	PIKFYVE	c.864A>G	NM_015040.3	NP_055855.2:p.(Arg288=)	NC_000002.11:g.209153495A>G	(Likely) benign	1 lab	b346a4c5ca
14:35585830 PPP2R3C G>A	14	35585830	35585830	G	A	PPP2R3C	c.172C>T	NM_017917.3	NP_060387.2:p.(Arg58Trp)	NC_000014.8:g.35585830G>A	VUS	1 lab	b346be44c7
11:93430735 CEP295 C>T	11	93430735	93430735	C	T	CEP295	c.2657C>T	NM_033395.2	NP_203753.1:p.(Ser886Leu)	NC_000011.9:g.93430735C>T	(Likely) benign	1 lab	b3475bf8ff
X:153128940 L1CAM G>C	X	153128940	153128940	G	C	L1CAM	c.3522C>G	NM_001278116.1	NP_001265045.1:p.(Gly1174=)	NC_000023.10:g.153128940G>C	(Likely) benign	1 lab	b347ee827c
18:23937717 TAF4B A>G	18	23937717	23937717	A	G	TAF4B	c.2395A>G	NM_001293725.1	NP_001280654.1:p.(Ile799Val)	NC_000018.9:g.23937717A>G	(Likely) benign	1 lab	b349818f15
6:39893446 MOCS1 G>A	6	39893446	39893446	G	A	MOCS1	c.394C>T	NM_005943.5	NP_005934.2:p.(Arg132Trp)	NC_000006.11:g.39893446G>A	VUS	1 lab	b349f08787
2:179489182 TTN G>A	2	179489182	179489182	G	A	TTN	c.44815+10C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179489182G>A	(Likely) benign	1 lab	b349f89471
12:108961477 ISCU A>G	12	108961477	108961477	A	G	ISCU	c.462A>G	NM_001320042.1	NP_001306971.1:p.(Pro154=)	NC_000012.11:g.108961477A>G	(Likely) benign	1 lab	b34a36b7df
12:54799052 ITGA5 T>C	12	54799052	54799052	T	C	ITGA5	c.1123A>G	NM_002205.5	NP_002196.4:p.(Ile375Val)	NC_000012.11:g.54799052T>C	(Likely) benign	1 lab	b34cf1d6cc
X:43603104 MAOA C>T	X	43603104	43603104	C	T	MAOA	c.927C>T	NM_001270458.1	NP_001257387.1:p.(Ser309=)	NC_000023.10:g.43603104C>T	(Likely) benign	1 lab	b34d575828
10:73565632 CDH23 G>A	10	73565632	73565632	G	A	CDH23	c.7942G>A	NM_022124.5	NP_071407.4:p.(Val2648Met)	NC_000010.10:g.73565632G>A	VUS	1 lab	b34ef4b33b
6:152728182 SYNE1 G>A	6	152728182	152728182	G	A	SYNE1	c.6690C>T	NM_182961.3	NP_892006.3:p.(His2230=)	NC_000006.11:g.152728182G>A	(Likely) benign	1 lab	b34f90a8ed
17:29554557 NF1 A>C	17	29554557	29554557	A	C	NF1	c.2342A>C	NM_000267.3	NP_000258.1:p.(His781Pro)	NC_000017.10:g.29554557A>C	(Likely) pathogenic	1 lab	b35052d50a
X:53227046 KDM5C C>A	X	53227046	53227046	C	A	KDM5C	c.2529G>T	NM_004187.3	NP_004178.2:p.(Val843=)	NC_000023.10:g.53227046C>A	(Likely) benign	1 lab	b3505388a5
17:29497020 NF1 G>T	17	29497020	29497020	G	T	NF1	c.586+5G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29497020G>T	VUS	1 lab	b35682d1dc
X:128975745 ZDHHC9 C>T	X	128975745	128975745	C	T	ZDHHC9	c.167+10G>A	NM_001008222.2	NP_001008223.1:p.?	NC_000023.10:g.128975745C>T	(Likely) benign	1 lab	b357ecce50
15:23889269 MAGEL2 T>C	15	23889269	23889269	T	C	MAGEL2	c.3621A>G	NM_019066.4	NP_061939.3:p.(Lys1207=)	NC_000015.9:g.23889269T>C	(Likely) benign	1 lab	b3583621f3
16:2124421 TSC2 C>T	16	2124421	2124421	C	T	TSC2	c.2545+31C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2124421C>T	(Likely) benign	1 lab	b358dace75
15:57211112 TCF12 C>T	15	57211112	57211112	C	T	TCF12	c.-23+8C>T	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57211112C>T	(Likely) benign	1 lab	b35973705b
16:2134624 TSC2 C>CT	16	2134624	2134625	C	CT	TSC2	c.4401_4402insT	NM_000548.3	NP_000539.2:p.(Pro1468SerfsTer56)	NC_000016.9:g.2134624_2134625insT	(Likely) pathogenic	1 lab	b359ee0c9b
19:4818209 TICAM1 G>A	19	4818209	4818209	G	A	TICAM1	c.181C>T	NM_182919.3	NP_891549.1:p.(Leu61=)	NC_000019.9:g.4818209G>A	(Likely) benign	1 lab	b35bf97782
4:123159275 BLTP1 A>G	4	123159275	123159275	A	G	BLTP1	c.3603A>G	NM_015312.3	NP_056127.2:p.(Glu1201=)	NC_000004.11:g.123159275A>G	(Likely) benign	1 lab	b35c8d30ed
10:96731894 CYP2C9 G>T	10	96731894	96731894	G	T	CYP2C9	c.853G>T	NM_000771.4	NP_000762.2:p.(Glu285Ter)	NC_000010.10:g.96731894G>T	VUS	1 lab	b35e389b14
8:100520086 VPS13B C>T	8	100520086	100520086	C	T	VPS13B	c.4246C>T	NM_017890.4	NP_060360.3:p.(Arg1416Ter)	NC_000008.10:g.100520086C>T	(Likely) pathogenic	1 lab	b361ebcb5e
19:38994853 RYR1 C>T	19	38994853	38994853	C	T	RYR1	c.7927-7C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38994853C>T	(Likely) benign	1 lab	b361f0bc2f
16:16248592 ABCC6 C>T	16	16248592	16248592	C	T	ABCC6	c.4101G>A	NM_001171.5	NP_001162.4:p.(Ser1367=)	NC_000016.9:g.16248592C>T	(Likely) benign	1 lab	b3620a70a8
3:69987070 MITF A>C	3	69987070	69987070	A	C	MITF	c.401A>C	NM_001354607.1	NP_001341536.1:p.(His134Pro)	NC_000003.11:g.69987070A>C	VUS	1 lab	b362b0e264
15:99456253 IGF1R T>C	15	99456253	99456253	T	C	IGF1R	c.1590-20T>C	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99456253T>C	(Likely) benign	1 lab	b36432e4ef
X:106083418 TBC1D8B G>A	X	106083418	106083418	G	A	TBC1D8B	c.1494G>A	NM_017752.2	NP_060222.2:p.(Met498Ile)	NC_000023.10:g.106083418G>A	(Likely) benign	1 lab	b36885b8d7
2:179433768 TTN T>C	2	179433768	179433768	T	C	TTN	c.77091A>G	NM_001267550.1	NP_001254479.1:p.(Glu25697=)	NC_000002.11:g.179433768T>C	(Likely) benign	1 lab	b36a93dbb5
11:67376033 NDUFV1 T>C	11	67376033	67376033	T	C	NDUFV1	c.166T>C	NM_007103.3	NP_009034.2:p.(Ser56Pro)	NC_000011.9:g.67376033T>C	VUS	1 lab	b36d82e071
10:27412485 YME1L1 T>G	10	27412485	27412485	T	G	YME1L1	c.1264A>C	NM_139312.2	NP_647473.1:p.(Asn422His)	NC_000010.10:g.27412485T>G	VUS	1 lab	b36dd8d31c
6:36953688 MTCH1 G>T	6	36953688	36953688	G	T	MTCH1	c.262C>A	NM_001271641.1	NP_001258570.1:p.(Leu88Met)	NC_000006.11:g.36953688G>T	VUS	1 lab	b372820487
3:4853123 ITPR1 C>A	3	4853123	4853123	C	A	ITPR1	c.7402C>A	NM_001168272.1	NP_001161744.1:p.(Pro2468Thr)	NC_000003.11:g.4853123C>A	VUS	1 lab	b373dfe562
1:160283921 COPA G>A	1	160283921	160283921	G	A	COPA	c.707-6C>T	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160283921G>A	(Likely) benign	1 lab	b3743f678c
13:100634515 ZIC2 C>T	13	100634515	100634515	C	T	ZIC2	c.197C>T	NM_007129.4	NP_009060.2:p.(Ala66Val)	NC_000013.10:g.100634515C>T	VUS	1 lab	b374822da4
9:13109019 MPDZ T>C	9	13109019	13109019	T	C	MPDZ	c.5982A>G	NM_001330637.1	NP_001317566.1:p.(Pro1994=)	NC_000009.11:g.13109019T>C	(Likely) benign	1 lab	b37502a5e9
16:2134950 TSC2 A>C	16	2134950	2134950	A	C	TSC2	c.4494-2A>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2134950A>C	(Likely) pathogenic	1 lab	b3756ad2d5
X:153994482 DKC1 C>T	X	153994482	153994482	C	T	DKC1	c.264-9C>T	NM_001288747.1	NP_001275676.1:p.?	NC_000023.10:g.153994482C>T	(Likely) benign	1 lab	b376a830bf
17:29654515 NF1 A>C	17	29654515	29654515	A	C	NF1	c.5206-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654515A>C	(Likely) pathogenic	1 lab	b37ae0752b
X:63488562 MTMR8 G>T	X	63488562	63488562	G	T	MTMR8	c.1970C>A	NM_017677.3	NP_060147.2:p.(Ala657Asp)	NC_000023.10:g.63488562G>T	(Likely) benign	1 lab	b37bb956b8
3:132231952 DNAJC13 G>A	3	132231952	132231952	G	A	DNAJC13	c.5385+9G>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132231952G>A	(Likely) benign	1 lab	b37bec4994
19:39026677 RYR1 G>A	19	39026677	39026677	G	A	RYR1	c.11557G>A	NM_000540.2	NP_000531.2:p.(Glu3853Lys)	NC_000019.9:g.39026677G>A	VUS	1 lab	b37db43678
21:47704695 MCM3AP C>T	21	47704695	47704695	C	T	MCM3AP	c.506G>A	NM_003906.4	NP_003897.2:p.(Ser169Asn)	NC_000021.8:g.47704695C>T	(Likely) benign	1 lab	b37e50f79a
11:66276576 DPP3 G>A	11	66276576	66276576	G	A	DPP3	c.2068G>A	NM_130443.3	NP_569710.2:p.(Glu690Lys)	NC_000011.9:g.66276576G>A	(Likely) benign	1 lab	b388dd830d
14:65409311 GPX2 C>T	14	65409311	65409311	C	T	GPX2	c.134G>A	NM_002083.4	NP_002074.2:p.(Arg45Gln)	NC_000014.8:g.65409311C>T	VUS	1 lab	b37fc2f40d
14:21770719 RPGRIP1 A>C	14	21770719	21770719	A	C	RPGRIP1	c.563A>C	NM_020366.3	NP_065099.3:p.(Glu188Ala)	NC_000014.8:g.21770719A>C	VUS	1 lab	b37fe8c561
X:152686160 ZFP92 C>A	X	152686160	152686160	C	A	ZFP92	c.325C>A	NM_001136273.1	NP_001129745.1:p.(Pro109Thr)	NC_000023.10:g.152686160C>A	VUS	1 lab	b380321823
17:11642280 DNAH9 C>T	17	11642280	11642280	C	T	DNAH9	c.5898C>T	NM_001372.3	NP_001363.2:p.(Val1966=)	NC_000017.10:g.11642280C>T	(Likely) benign	1 lab	b3808e3dda
8:100568671 VPS13B T>C	8	100568671	100568671	T	C	VPS13B	c.4821-7T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100568671T>C	(Likely) benign	1 lab	b3817e4495
14:31592237 HECTD1 G>A	14	31592237	31592237	G	A	HECTD1	c.4998C>T	NM_015382.4	NP_056197.3:p.(Cys1666=)	NC_000014.8:g.31592237G>A	(Likely) benign	1 lab	b381d6033b
1:207641883 CR2 G>A	1	207641883	207641883	G	A	CR2	c.457G>A	NM_001006658.2	NP_001006659.1:p.(Glu153Lys)	NC_000001.10:g.207641883G>A	VUS	1 lab	b381fbc969
17:77757981 CBX2 C>T	17	77757981	77757981	C	T	CBX2	c.739C>T	NM_005189.2	NP_005180.1:p.(Arg247Trp)	NC_000017.10:g.77757981C>T	VUS	1 lab	b3850ac0cd
9:119460297 TRIM32 C>T	9	119460297	119460297	C	T	TRIM32	c.276C>T	NM_012210.3	NP_036342.2:p.(Ser92=)	NC_000009.11:g.119460297C>T	(Likely) benign	1 lab	b385158f9d
2:202150040 CASP8 G>A	2	202150040	202150040	G	A	CASP8	c.1481G>A	NM_001080125.1	NP_001073594.1:p.(Arg494Gln)	NC_000002.11:g.202150040G>A	(Likely) benign	1 lab	b385cd8764
X:153579373 FLNA CAA>C	X	153579373	153579377	CAA	C	FLNA	c.7058_7059del	NM_001110556.2	NP_001104026.1:p.(Phe2353CysfsTer31)	NC_000023.10:g.153579376_153579377del	(Likely) pathogenic	1 lab	b38614af0a
7:124464124 POT1 T>C	7	124464124	124464124	T	C	POT1	c.1797A>G	NM_015450.2	NP_056265.2:p.(Ala599=)	NC_000007.13:g.124464124T>C	(Likely) benign	1 lab	b386a25add
19:50550051 ZNF473 A>G	19	50550051	50550051	A	G	ZNF473	c.2351A>G	NM_015428.3	NP_056243.1:p.(Lys784Arg)	NC_000019.9:g.50550051A>G	VUS	1 lab	b387f22790
12:49443801 KMT2D T>C	12	49443801	49443801	T	C	KMT2D	c.3570A>G	NM_003482.3	NP_003473.3:p.(Ala1190=)	NC_000012.11:g.49443801T>C	(Likely) benign	1 lab	b388534865
12:124817727 NCOR2 C>T	12	124817727	124817727	C	T	NCOR2	c.6704G>A	NM_006312.5	NP_006303.4:p.(Arg2235Gln)	NC_000012.11:g.124817727C>T	VUS	1 lab	b38a4bf418
17:7123945 ACADVL G>A	17	7123945	7123945	G	A	ACADVL	c.227G>A	NM_000018.3	NP_000009.1:p.(Gly76Glu)	NC_000017.10:g.7123945G>A	VUS	1 lab	b38a7c923b
10:82040554 MAT1A C>T	10	82040554	82040554	C	T	MAT1A	c.293-6G>A	NM_000429.2	NP_000420.1:p.?	NC_000010.10:g.82040554C>T	(Likely) benign	1 lab	b38c3c70a9
12:53184079 KRT3 C>A	12	53184079	53184079	C	A	KRT3	c.1634G>T	NM_057088.2	NP_476429.2:p.(Gly545Val)	NC_000012.11:g.53184079C>A	VUS	1 lab	b38ce86f04
20:10626022 JAG1 C>A	20	10626022	10626022	C	A	JAG1	c.2095G>T	NM_000214.3	NP_000205.1:p.(Gly699Ter)	NC_000020.10:g.10626022C>A	(Likely) pathogenic	1 lab	b38dcac434
1:150526597 ADAMTSL4 C>A	1	150526597	150526597	C	A	ADAMTSL4	c.1130C>A	NM_001288608.1	NP_001275537.1:p.(Ala377Glu)	NC_000001.10:g.150526597C>A	(Likely) benign	1 lab	b38e2e1adc
16:71007323 HYDIN C>T	16	71007323	71007323	C	T	HYDIN	c.5302G>A	NM_001270974.2	NP_001257903.1:p.(Glu1768Lys)	NC_000016.9:g.71007323C>T	VUS	1 lab	b38f52b41d
9:123170757 CDK5RAP2 C>G	9	123170757	123170757	C	G	CDK5RAP2	c.4605-11G>C	NM_018249.5	NP_060719.4:p.?	NC_000009.11:g.123170757C>G	(Likely) benign	1 lab	b38f793ad9
6:10587025 GCNT2 C>T	6	10587025	10587025	C	T	GCNT2	c.803C>T	NM_145655.3	NP_663630.2:p.(Ala268Val)	NC_000006.11:g.10587025C>T	VUS	1 lab	b3911c30f5
9:133748334 ABL1 G>A	9	133748334	133748334	G	A	ABL1	c.1052G>A	NM_007313.2	NP_009297.2:p.(Arg351Gln)	NC_000009.11:g.133748334G>A	VUS	1 lab	b3912e818e
14:92469917 TRIP11 A>AT	14	92469917	92469923	A	AT	TRIP11	c.4402dup	NM_004239.4	NP_004230.2:p.(Ile1468AsnfsTer19)	NC_000014.8:g.92469923dup	(Likely) pathogenic	1 lab	b392340b48
1:181767595 CACNA1E CGAG>C	1	181767595	181767602	CGAG	C	CACNA1E	c.6572_6574del	NM_001205293.3	NP_001192222.1:p.(Glu2191del)	NC_000001.10:g.181767600_181767602del	VUS	1 lab	b3924837ce
9:138588582 SOHLH1 G>A	9	138588582	138588582	G	A	SOHLH1	c.537C>T	NM_001012415.2	NP_001012415.2:p.(Pro179=)	NC_000009.11:g.138588582G>A	(Likely) benign	1 lab	b39393fb4c
4:183650126 TENM3 A>G	4	183650126	183650126	A	G	TENM3	c.2377A>G	NM_001080477.3	NP_001073946.1:p.(Ile793Val)	NC_000004.11:g.183650126A>G	VUS	1 lab	b39512ddde
X:102565322 BEX2 C>T	X	102565322	102565322	C	T	BEX2	c.55G>A	NM_001168399.1	NP_001161871.1:p.(Glu19Lys)	NC_000023.10:g.102565322C>T	(Likely) benign	1 lab	b396a7a3b0
X:48661066 HDAC6 C>T	X	48661066	48661066	C	T	HDAC6	c.-30-4C>T	NM_001321226.1	NP_001308155.1:p.?	NC_000023.10:g.48661066C>T	(Likely) benign	1 lab	b396b7bfb2
15:43820334 MAP1A C>T	15	43820334	43820334	C	T	MAP1A	c.6663C>T	NM_002373.6	NP_002364.5:p.(Thr2221=)	NC_000015.9:g.43820334C>T	(Likely) benign	1 lab	b397f9495f
2:149853783 KIF5C A>G	2	149853783	149853783	A	G	KIF5C	c.2029A>G	NM_004522.3	NP_004513.1:p.(Met677Val)	NC_000002.11:g.149853783A>G	(Likely) benign	1 lab	b39886c082
22:19864680 TXNRD2 C>T	22	19864680	19864680	C	T	TXNRD2	c.1523G>A	NM_006440.3	NP_006431.2:p.(Arg508His)	NC_000022.10:g.19864680C>T	(Likely) benign	1 lab	b398f5b050
6:152163757 ESR1 G>T	6	152163757	152163757	G	T	ESR1	c.478G>T	NM_001122742.1	NP_001116214.1:p.(Gly160Cys)	NC_000006.11:g.152163757G>T	(Likely) benign	1 lab	b39a099ab5
X:70595132 TAF1 T>A	X	70595132	70595132	T	A	TAF1	c.528T>A	NM_001286074.1	NP_001273003.1:p.(Thr176=)	NC_000023.10:g.70595132T>A	(Likely) benign	1 lab	b39a91212e
11:118529613 TREH C>A	11	118529613	118529613	C	A	TREH	c.1545+1G>T	NM_007180.2	NP_009111.2:p.?	NC_000011.9:g.118529613C>A	(Likely) pathogenic	1 lab	b39c5f9f04
12:49425430 KMT2D G>A	12	49425430	49425430	G	A	KMT2D	c.13058C>T	NM_003482.3	NP_003473.3:p.(Pro4353Leu)	NC_000012.11:g.49425430G>A	VUS	1 lab	b39d929167
15:23890716 MAGEL2 G>C	15	23890716	23890716	G	C	MAGEL2	c.2174C>G	NM_019066.4	NP_061939.3:p.(Ser725Cys)	NC_000015.9:g.23890716G>C	(Likely) benign	1 lab	b39e687bdc
X:41029728 USP9X T>C	X	41029728	41029728	T	C	USP9X	c.2883T>C	NM_001039591.3	NP_001034680.2:p.(Ile961=)	NC_000023.10:g.41029728T>C	(Likely) benign	1 lab	b39e747d35
19:7437716 ARHGEF18 C>T	19	7437716	7437716	C	T	ARHGEF18	c.34C>T	NM_001367823.1	NP_001354752.1:p.(Arg12Trp)	NC_000019.9:g.7437716C>T	VUS	1 lab	b3a01d751f
11:66453496 SPTBN2 G>A	11	66453496	66453496	G	A	SPTBN2	c.7019C>T	NM_006946.3	NP_008877.1:p.(Pro2340Leu)	NC_000011.9:g.66453496G>A	VUS	1 lab	b3a5ba54e3
17:17697412 RAI1 G>A	17	17697412	17697412	G	A	RAI1	c.1150G>A	NM_030665.3	NP_109590.3:p.(Ala384Thr)	NC_000017.10:g.17697412G>A	(Likely) benign	1 lab	b3a6bf1cdc
3:30713403 TGFBR2 C>G	3	30713403	30713403	C	G	TGFBR2	c.803C>G	NM_001024847.2	NP_001020018.1:p.(Pro268Arg)	NC_000003.11:g.30713403C>G	VUS	1 lab	b3a701fea0
5:56178111 MAP3K1 A>G	5	56178111	56178111	A	G	MAP3K1	c.3084A>G	NM_005921.1	NP_005912.1:p.(Gln1028=)	NC_000005.9:g.56178111A>G	(Likely) benign	1 lab	b3a78493b5
7:151859751 KMT2C G>A	7	151859751	151859751	G	A	KMT2C	c.10911C>T	NM_170606.2	NP_733751.2:p.(Ile3637=)	NC_000007.13:g.151859751G>A	(Likely) benign	1 lab	b3a8341783
17:10545742 MYH3 G>A	17	10545742	10545742	G	A	MYH3	c.1880C>T	NM_002470.3	NP_002461.2:p.(Thr627Met)	NC_000017.10:g.10545742G>A	VUS	1 lab	b3a8484e1a
16:721864 RHOT2 G>T	16	721864	721864	G	T	RHOT2	c.959G>T	NM_138769.2	NP_620124.1:p.(Arg320Leu)	NC_000016.9:g.721864G>T	(Likely) benign	1 lab	b3a884b382
9:73233861 TRPM3 G>A	9	73233861	73233861	G	A	TRPM3				NC_000009.11:g.73233861G>A	(Likely) benign	1 lab	b3a8b544f7
9:376207 DOCK8 C>G	9	376207	376207	C	G	DOCK8	c.2110-3C>G	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.376207C>G	VUS	1 lab	026315fecb
16:2104354 TSC2 TCC>T	16	2104354	2104356	TCC	T	TSC2	c.395_396del	NM_000548.5	NP_000539.2:p.(Ser132Ter)	NC_000016.9:g.2104355_2104356del	(Likely) pathogenic	1 lab	b3aa359367
13:39265158 FREM2 C>G	13	39265158	39265158	C	G	FREM2	c.3677C>G	NM_207361.5	NP_997244.4:p.(Thr1226Ser)	NC_000013.10:g.39265158C>G	(Likely) benign	1 lab	b3aa72d059
1:236897752 ACTN2 A>G	1	236897752	236897752	A	G	ACTN2	c.717A>G	NM_001278343.1	NP_001265272.1:p.(Arg239=)	NC_000001.10:g.236897752A>G	(Likely) benign	1 lab	b3aaa6a2df
19:7599791 PNPLA6 G>A	19	7599791	7599791	G	A	PNPLA6	c.-43+3G>A	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7599791G>A	(Likely) benign	1 lab	b3aadb7d11
16:904623 LMF1 T>C	16	904623	904623	T	C	LMF1	c.1214A>G	NM_001352018.1	NP_001338947.1:p.(Lys405Arg)	NC_000016.9:g.904623T>C	(Likely) benign	1 lab	b3aafbb46d
10:79760779 POLR3A G>A	10	79760779	79760779	G	A	POLR3A	c.2433C>T	NM_007055.3	NP_008986.2:p.(Asp811=)	NC_000010.10:g.79760779G>A	(Likely) benign	1 lab	b3abf834db
9:140043544 GRIN1 C>T	9	140043544	140043544	C	T	GRIN1	c.654C>T	NM_007327.3	NP_015566.1:p.(Val218=)	NC_000009.11:g.140043544C>T	(Likely) benign	1 lab	b3ad378b52
X:109507804 AMMECR1 A>G	X	109507804	109507804	A	G	AMMECR1	c.128T>C	NM_001171689.1	NP_001165160.1:p.(Ile43Thr)	NC_000023.10:g.109507804A>G	(Likely) benign	1 lab	b3adbfd651
7:97488686 ASNS G>A	7	97488686	97488686	G	A	ASNS	c.512C>T	NM_133436.3	NP_597680.2:p.(Ala171Val)	NC_000007.13:g.97488686G>A	(Likely) benign	1 lab	b3adf9eca9
9:2648357 VLDLR G>C	9	2648357	2648357	G	C	VLDLR	c.1962+10G>C	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2648357G>C	(Likely) benign	1 lab	b3b0ed36fa
6:24825528 RIPOR2 C>T	6	24825528	24825528	C	T	RIPOR2	c.2857G>A	NM_014722.4	NP_055537.2:p.(Glu953Lys)	NC_000006.11:g.24825528C>T	VUS	1 lab	b3b20a7084
X:150891161 FATE1 G>A	X	150891161	150891161	G	A	FATE1	c.482G>A	NM_033085.2	NP_149076.1:p.(Arg161Lys)	NC_000023.10:g.150891161G>A	(Likely) benign	1 lab	b3b2f48c41
X:99905862 SRPX2 G>C	X	99905862	99905862	G	C	SRPX2	c.163G>C	NM_014467.2	NP_055282.1:p.(Val55Leu)	NC_000023.10:g.99905862G>C	VUS	1 lab	b3b4ccf68a
5:155771534 SGCD C>T	5	155771534	155771534	C	T	SGCD	c.39C>T	NM_000337.5	NP_000328.2:p.(Thr13=)	NC_000005.9:g.155771534C>T	(Likely) benign	1 lab	b3b54cc5b2
6:45870920 CLIC5 C>T	6	45870920	45870920	C	T	CLIC5	c.1138G>A	NM_001114086.1	NP_001107558.1:p.(Ala380Thr)	NC_000006.11:g.45870920C>T	VUS	1 lab	b3b5870e6c
1:150531469 ADAMTSL4 G>A	1	150531469	150531469	G	A	ADAMTSL4	c.2660G>A	NM_001288608.1	NP_001275537.1:p.(Arg887Gln)	NC_000001.10:g.150531469G>A	VUS	1 lab	b3b5939a33
15:62239510 VPS13C T>TA	15	62239510	62239516	T	TA	VPS13C	c.4760-3dup	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62239516dup	(Likely) benign	1 lab	b3b69db8d9
6:152546877 SYNE1 G>A	6	152546877	152546877	G	A	SYNE1	c.21330C>T	NM_182961.3	NP_892006.3:p.(Thr7110=)	NC_000006.11:g.152546877G>A	(Likely) benign	1 lab	b3b720a922
16:89598415 SPG7 C>T	16	89598415	89598415	C	T	SPG7	c.1091C>T	NM_003119.3	NP_003110.1:p.(Thr364Met)	NC_000016.9:g.89598415C>T	VUS	1 lab	b3b82281bb
4:151821326 LRBA C>T	4	151821326	151821326	C	T	LRBA	c.1799G>A	NM_001199282.2	NP_001186211.2:p.(Gly600Asp)	NC_000004.11:g.151821326C>T	VUS	1 lab	b3b967bf59
4:41263813 UCHL1 A>G	4	41263813	41263813	A	G	UCHL1	c.407A>G	NM_004181.4	NP_004172.2:p.(Asn136Ser)	NC_000004.11:g.41263813A>G	VUS	1 lab	b3bb6a6e68
7:21818707 DNAH11 T>C	7	21818707	21818707	T	C	DNAH11				NC_000007.13:g.21818707T>C	(Likely) benign	1 lab	b3bbc95893
18:34156475 FHOD3 C>T	18	34156475	34156475	C	T	FHOD3	c.573C>T	NM_001281740.2	NP_001268669.1:p.(Thr191=)	NC_000018.9:g.34156475C>T	(Likely) benign	1 lab	b3bfc760c3
17:18051444 MYO15A G>A	17	18051444	18051444	G	A	MYO15A	c.6611G>A	NM_016239.3	NP_057323.3:p.(Arg2204His)	NC_000017.10:g.18051444G>A	VUS	1 lab	b3c4219cd8
1:2160733 SKI C>T	1	2160733	2160733	C	T	SKI	c.528C>T	NM_003036.3	NP_003027.1:p.(Leu176=)	NC_000001.10:g.2160733C>T	(Likely) benign	1 lab	b3c81eb8a5
13:25479880 CPAP C>T	13	25479880	25479880	C	T	CPAP	c.2296G>A	NM_018451.4	NP_060921.3:p.(Asp766Asn)	NC_000013.10:g.25479880C>T	VUS	1 lab	b3c890d657
16:27761389 KATNIP C>T	16	27761389	27761389	C	T	KATNIP	c.3108C>T	NM_015202.3	NP_056017.3:p.(Asp1036=)	NC_000016.9:g.27761389C>T	(Likely) benign	1 lab	b3c8948aa6
7:117305573 CFTR C>G	7	117305573	117305573	C	G	CFTR	c.4197C>G	NM_000492.3	NP_000483.3:p.(Leu1399=)	NC_000007.13:g.117305573C>G	(Likely) benign	1 lab	b3cb829397
18:67871376 RTTN G>A	18	67871376	67871376	G	A	RTTN	c.343C>T	NM_173630.3	NP_775901.3:p.(Leu115Phe)	NC_000018.9:g.67871376G>A	VUS	1 lab	b3cc37dae4
1:20975021 PINK1 G>A	1	20975021	20975021	G	A	PINK1	c.1147G>A	NM_032409.2	NP_115785.1:p.(Ala383Thr)	NC_000001.10:g.20975021G>A	(Likely) benign	1 lab	b3cce8b17b
4:151504534 MAB21L2 C>A	4	151504534	151504534	C	A	MAB21L2	c.353C>A	NM_006439.4	NP_006430.1:p.(Thr118Lys)	NC_000004.11:g.151504534C>A	VUS	1 lab	b3d0800a76
11:134127076 ACAD8 G>T	11	134127076	134127076	G	T	ACAD8	c.305G>T	NM_014384.2	NP_055199.1:p.(Arg102Leu)	NC_000011.9:g.134127076G>T	VUS	1 lab	b3d0f5ea06
8:144940483 EPPK1 G>A	8	144940483	144940483	G	A	EPPK1				NC_000008.10:g.144940483G>A	(Likely) benign	1 lab	b3d1126b99
21:46916483 COL18A1 G>A	21	46916483	46916483	G	A	COL18A1	c.3117+1G>A	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46916483G>A	VUS	1 lab	b4447ea055
9:125562705 OR1K1 A>G	9	125562705	125562705	A	G	OR1K1	c.304A>G	NM_080859.1	NP_543135.1:p.(Met102Val)	NC_000009.11:g.125562705A>G	(Likely) benign	1 lab	b3d14b6081
2:220502408 SLC4A3 G>A	2	220502408	220502408	G	A	SLC4A3	c.2722G>A	NM_001326559.1	NP_001313488.1:p.(Glu908Lys)	NC_000002.11:g.220502408G>A	(Likely) benign	1 lab	b3d388ac8a
16:2152071 PKD1 G>A	16	2152071	2152071	G	A	PKD1	c.9388C>T	NM_001009944.2	NP_001009944.2:p.(Arg3130Trp)	NC_000016.9:g.2152071G>A	VUS	1 lab	b3d4e69098
11:108788637 DDX10 A>G	11	108788637	108788637	A	G	DDX10	c.2342A>G	NM_004398.3	NP_004389.2:p.(Asp781Gly)	NC_000011.9:g.108788637A>G	(Likely) benign	1 lab	b3d59f434d
8:61766029 CHD7 GA>G	8	61766029	61766030	GA	G	CHD7	c.6746del	NM_017780.4	NP_060250.2:p.(Asp2249ValfsTer28)	NC_000008.10:g.61766030del	(Likely) pathogenic	1 lab	b3d6cd79e8
16:3644455 SLX4 T>C	16	3644455	3644455	T	C	SLX4	c.2159A>G	NM_032444.2	NP_115820.2:p.(Tyr720Cys)	NC_000016.9:g.3644455T>C	(Likely) benign	1 lab	b3d9526f16
11:1263495 MUC5B C>T	11	1263495	1263495	C	T	MUC5B	c.5385C>T	NM_002458.2	NP_002449.2:p.(Asp1795=)	NC_000011.9:g.1263495C>T	(Likely) benign	1 lab	b3da25dbc0
16:81904469 PLCG2 C>G	16	81904469	81904469	C	G	PLCG2	c.577C>G	NM_002661.3	NP_002652.2:p.(His193Asp)	NC_000016.9:g.81904469C>G	(Likely) benign	1 lab	b3db6b44fc
1:1420453 ATAD3B G>C	1	1420453	1420453	G	C	ATAD3B	c.808G>C	NM_031921.5	NP_114127.3:p.(Val270Leu)	NC_000001.10:g.1420453G>C	VUS	1 lab	b3dcf43f12
22:32889203 FBXO7 G>A	22	32889203	32889203	G	A	FBXO7	c.1079G>A	NM_012179.3	NP_036311.3:p.(Arg360His)	NC_000022.10:g.32889203G>A	(Likely) benign	1 lab	b3dd0eda74
5:176707659 NSD1 G>A	5	176707659	176707659	G	A	NSD1	c.5716G>A	NM_022455.4	NP_071900.2:p.(Gly1906Arg)	NC_000005.9:g.176707659G>A	(Likely) pathogenic	1 lab	b3dd4e67d0
19:42492719 ATP1A3 G>A	19	42492719	42492719	G	A	ATP1A3	c.41C>T	NM_001256214.1	NP_001243143.1:p.(Ser14Leu)	NC_000019.9:g.42492719G>A	(Likely) benign	1 lab	b3dd87d67f
5:149439282 CSF1R C>T	5	149439282	149439282	C	T	CSF1R	c.2113G>A	NM_005211.3	NP_005202.2:p.(Glu705Lys)	NC_000005.9:g.149439282C>T	VUS	1 lab	b3df9c4b47
12:115120636 TBX3 C>T	12	115120636	115120636	C	T	TBX3	c.370G>A	NM_016569.3	NP_057653.3:p.(Val124Ile)	NC_000012.11:g.115120636C>T	VUS	1 lab	b3e43ea82b
15:90196090 KIF7 T>G	15	90196090	90196090	T	G	KIF7	c.72A>C	NM_198525.2	NP_940927.2:p.(Pro24=)	NC_000015.9:g.90196090T>G	(Likely) benign	1 lab	b3e48562ba
2:112656376 MERTK G>C	2	112656376	112656376	G	C	MERTK	c.61+3G>C	NM_006343.2	NP_006334.2:p.?	NC_000002.11:g.112656376G>C	(Likely) benign	1 lab	b3e4b47d91
3:164750308 SI A>T	3	164750308	164750308	A	T	SI	c.2736+2T>A	NM_001041.3	NP_001032.2:p.?	NC_000003.11:g.164750308A>T	VUS	1 lab	b3e6cb8550
17:16843640 TNFRSF13B C>T	17	16843640	16843640	C	T	TNFRSF13B	c.631G>A	NM_012452.2	NP_036584.1:p.(Asp211Asn)	NC_000017.10:g.16843640C>T	(Likely) benign	1 lab	b3e7a556b5
X:64743988 LAS1L A>T	X	64743988	64743988	A	T	LAS1L	c.1248T>A	NM_031206.4	NP_112483.1:p.(Pro416=)	NC_000023.10:g.64743988A>T	(Likely) benign	1 lab	b3ea515165
22:26860053 HPS4 A>G	22	26860053	26860053	A	G	HPS4	c.1543T>C	NM_001349898.1	NP_001336827.1:p.(Cys515Arg)	NC_000022.10:g.26860053A>G	(Likely) benign	1 lab	b3eabf4ead
2:54886335 SPTBN1 G>A	2	54886335	54886335	G	A	SPTBN1	c.6288G>A	NM_003128.2	NP_003119.2:p.(Arg2096=)	NC_000002.11:g.54886335G>A	(Likely) benign	1 lab	b3eae6eddf
17:46115075 COPZ2 C>CG	17	46115075	46115076	C	CG	COPZ2	c.67_68insC	NM_016429.4	NP_057513.1:p.(Gly23AlafsTer32)	NC_000017.10:g.46115075_46115076insG	(Likely) benign	1 lab	b3ec95e2fe
18:21113349 NPC1 T>C	18	21113349	21113349	T	C	NPC1	c.3724A>G	NM_000271.4	NP_000262.2:p.(Ile1242Val)	NC_000018.9:g.21113349T>C	(Likely) benign	1 lab	b3f0aecea5
1:67513013 SLC35D1 T>TA	1	67513013	67513017	T	TA	SLC35D1	c.570dup	NM_015139.2	NP_055954.1:p.(Ile191TyrfsTer58)	NC_000001.10:g.67513017dup	(Likely) pathogenic	1 lab	b3f1018bc7
2:55530289 CCDC88A C>T	2	55530289	55530289	C	T	CCDC88A	c.4385-1G>A	NM_001135597.1	NP_001129069.1:p.?	NC_000002.11:g.55530289C>T	VUS	1 lab	b3f1318811
4:79372935 FRAS1 A>C	4	79372935	79372935	A	C	FRAS1	c.6473A>C	NM_025074.7	NP_079350.5:p.(Glu2158Ala)	NC_000004.11:g.79372935A>C	(Likely) benign	1 lab	b3f170a38a
16:30199063 CORO1A G>A	16	30199063	30199063	G	A	CORO1A	c.774G>A	NM_007074.3	NP_009005.1:p.(Pro258=)	NC_000016.9:g.30199063G>A	(Likely) benign	1 lab	b3f284ab99
1:248756757 OR2T10 G>C	1	248756757	248756757	G	C	OR2T10	c.313C>G	NM_001004693.1	NP_001004693.1:p.(Leu105Val)	NC_000001.10:g.248756757G>C	(Likely) benign	1 lab	b3f3a3cd94
17:80040522 FASN G>A	17	80040522	80040522	G	A	FASN	c.5800C>T	NM_004104.5	NP_004095.4:p.(Arg1934Cys)	NC_000017.10:g.80040522G>A	(Likely) benign	1 lab	b3f538fd6b
22:38164123 TRIOBP G>A	22	38164123	38164123	G	A	TRIOBP	c.6515G>A	NM_001039141.2	NP_001034230.1:p.(Arg2172Gln)	NC_000022.10:g.38164123G>A	VUS	1 lab	b3f739f925
16:57789952 KATNB1 G>A	16	57789952	57789952	G	A	KATNB1	c.1692G>A	NM_005886.2	NP_005877.2:p.(Glu564=)	NC_000016.9:g.57789952G>A	(Likely) benign	1 lab	b3f7dc7131
3:139071543 MRPS22 C>T	3	139071543	139071543	C	T	MRPS22	c.787C>T	NM_020191.3	NP_064576.1:p.(Arg263Cys)	NC_000003.11:g.139071543C>T	VUS	1 lab	b3f7eff07c
10:13702307 FRMD4A G>A	10	13702307	13702307	G	A	FRMD4A	c.1997+9C>T	NM_001318337.1	NP_001305266.1:p.?	NC_000010.10:g.13702307G>A	(Likely) benign	1 lab	b3f98b6e32
3:49570404 DAG1 G>A	3	49570404	49570404	G	A	DAG1	c.2460G>A	NM_001165928.3	NP_001159400.2:p.(Gln820=)	NC_000003.11:g.49570404G>A	(Likely) benign	1 lab	b3fb16d28f
6:64488046 EYS G>C	6	64488046	64488046	G	C	EYS	c.7751C>G	NM_001292009.1	NP_001278938.1:p.(Thr2584Ser)	NC_000006.11:g.64488046G>C	(Likely) benign	1 lab	b3fbd3e0e2
1:20971158 PINK1 A>T	1	20971158	20971158	A	T	PINK1	c.952A>T	NM_032409.2	NP_115785.1:p.(Met318Leu)	NC_000001.10:g.20971158A>T	VUS	1 lab	b3fbf684d6
2:175436606 WIPF1 C>T	2	175436606	175436606	C	T	WIPF1	c.927G>A	NM_001077269.1	NP_001070737.1:p.(Pro309=)	NC_000002.11:g.175436606C>T	(Likely) benign	1 lab	b3fc04b366
21:46900701 COL18A1 G>A	21	46900701	46900701	G	A	COL18A1	c.2785G>A	NM_130444.3	NP_569711.2:p.(Asp929Asn)	NC_000021.8:g.46900701G>A	(Likely) benign	1 lab	b3fc62f975
18:67872846 RTTN G>A	18	67872846	67872846	G	A	RTTN	c.31+18C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67872846G>A	(Likely) benign	1 lab	b3fc8b47ba
13:111099338 COL4A2 T>TA	13	111099338	111099346	T	TA	COL4A2	c.1078+135dup	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111099346dup	(Likely) benign	1 lab	b3fceb2bc0
3:69987137 MITF G>A	3	69987137	69987137	G	A	MITF	c.468G>A	NM_001354607.1	NP_001341536.1:p.(Pro156=)	NC_000003.11:g.69987137G>A	(Likely) benign	1 lab	b3fd293a0c
5:140263140 PCDHA13 C>T	5	140263140	140263140	C	T	PCDHA13	c.1287C>T	NM_018904.3	NP_061727.1:p.(Asp429=)	NC_000005.9:g.140263140C>T	(Likely) benign	1 lab	b3fd3ef518
22:38154093 TRIOBP G>A	22	38154093	38154093	G	A	TRIOBP	c.6161G>A	NM_001039141.2	NP_001034230.1:p.(Arg2054His)	NC_000022.10:g.38154093G>A	(Likely) benign	1 lab	b3fdb57c61
1:196695704 CFH A>C	1	196695704	196695704	A	C	CFH	c.1978A>C	NM_000186.3	NP_000177.2:p.(Asn660His)	NC_000001.10:g.196695704A>C	(Likely) benign	1 lab	b3fead7227
17:29661982 NF1 C>CA	17	29661982	29661984	C	CA	NF1	c.5878dup	NM_000267.3	NP_000258.1:p.(Met1960AsnfsTer5)	NC_000017.10:g.29661984dup	(Likely) pathogenic	1 lab	b4000d3244
16:23635346 PALB2 C>T	16	23635346	23635346	C	T	PALB2	c.2818G>A	NM_024675.3	NP_078951.2:p.(Glu940Lys)	NC_000016.9:g.23635346C>T	VUS	1 lab	b40246d102
8:145638659 SLC39A4 G>A	8	145638659	145638659	G	A	SLC39A4	c.1514C>T	NM_017767.2	NP_060237.2:p.(Ser505Leu)	NC_000008.10:g.145638659G>A	VUS	1 lab	b402ce42ce
X:152710779 TREX2 C>G	X	152710779	152710779	C	G	TREX2	c.110G>C	NM_080701.3	NP_542432.2:p.(Arg37Pro)	NC_000023.10:g.152710779C>G	(Likely) benign	1 lab	b402d460a1
8:145006096 PLEC G>A	8	145006096	145006096	G	A	PLEC	c.2589+9C>T	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145006096G>A	(Likely) benign	1 lab	b402faa3b7
10:70775329 KIFBP G>A	10	70775329	70775329	G	A	KIFBP	c.1023G>A	NM_015634.3	NP_056449.1:p.(Gln341=)	NC_000010.10:g.70775329G>A	(Likely) benign	1 lab	b403a051e2
12:101018280 GAS2L3 T>C	12	101018280	101018280	T	C	GAS2L3	c.1385T>C	NM_001303131.1	NP_001290060.1:p.(Val462Ala)	NC_000012.11:g.101018280T>C	VUS	1 lab	b40405ff45
2:170048384 LRP2 T>C	2	170048384	170048384	T	C	LRP2	c.8990A>G	NM_004525.3	NP_004516.2:p.(Glu2997Gly)	NC_000002.11:g.170048384T>C	VUS	1 lab	b404b785b7
4:499540 PIGG G>A	4	499540	499540	G	A	PIGG	c.127G>A	NM_001289051.1	NP_001275980.1:p.(Asp43Asn)	NC_000004.11:g.499540G>A	VUS	1 lab	b4058d45a0
8:144998869 PLEC G>A	8	144998869	144998869	G	A	PLEC	c.5639C>T	NM_201380.3	NP_958782.1:p.(Ala1880Val)	NC_000008.10:g.144998869G>A	VUS	1 lab	b406a05514
5:90020738 ADGRV1 T>C	5	90020738	90020738	T	C	ADGRV1	c.9838T>C	NM_032119.4	NP_115495.3:p.(Tyr3280His)	NC_000005.9:g.90020738T>C	VUS	1 lab	b406eadb35
X:51640112 MAGED1 C>T	X	51640112	51640112	C	T	MAGED1	c.1529C>T	NM_001005333.1	NP_001005333.1:p.(Ser510Leu)	NC_000023.10:g.51640112C>T	(Likely) benign	1 lab	b407279aab
4:151793808 LRBA T>C	4	151793808	151793808	T	C	LRBA	c.2258+7A>G	NM_001367550.1	NP_001354479.1:p.?	NC_000004.11:g.151793808T>C	(Likely) benign	1 lab	b407ac4e25
17:41197783 BRCA1 C>G	17	41197783	41197783	C	G	BRCA1	c.5504G>C	NM_007294.3	NP_009225.1:p.(Arg1835Pro)	NC_000017.10:g.41197783C>G	VUS	1 lab	b407e0686c
11:117860221 IL10RA G>A	11	117860221	117860221	G	A	IL10RA	c.253G>A	NM_001558.3	NP_001549.2:p.(Ala85Thr)	NC_000011.9:g.117860221G>A	(Likely) benign	1 lab	b4084a22db
20:30818801 POFUT1 G>A	20	30818801	30818801	G	A	POFUT1	c.915G>A	NM_015352.1	NP_056167.1:p.(Ser305=)	NC_000020.10:g.30818801G>A	(Likely) benign	1 lab	b409ef6747
X:123195618 STAG2 T>A	X	123195618	123195618	T	A	STAG2	c.1535-3T>A	NM_001042749.2	NP_001036214.1:p.?	NC_000023.10:g.123195618T>A	(Likely) benign	1 lab	b40bc72c92
4:73156685 ADAMTS3 C>A	4	73156685	73156685	C	A	ADAMTS3	c.2818G>T	NM_014243.2	NP_055058.2:p.(Gly940Cys)	NC_000004.11:g.73156685C>A	VUS	1 lab	b40bf1cdc8
19:7592448 MCOLN1 C>A	19	7592448	7592448	C	A	MCOLN1	c.614C>A	NM_020533.2	NP_065394.1:p.(Pro205His)	NC_000019.9:g.7592448C>A	VUS	1 lab	b40fac728e
13:110804708 COL4A1 G>T	13	110804708	110804708	G	T	COL4A1	c.4901C>A	NM_001845.5	NP_001836.3:p.(Ala1634Asp)	NC_000013.10:g.110804708G>T	VUS	1 lab	b4129c5076
X:1497643 IL3RA C>T	X	1497643	1497643	C	T	IL3RA	c.966C>T	NM_002183.3	NP_002174.1:p.(Phe322=)	NC_000023.10:g.1497643C>T	(Likely) benign	1 lab	b413051e11
5:1280460 TERT T>C	5	1280460	1280460	T	C	TERT	c.1770-7A>G	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1280460T>C	(Likely) benign	1 lab	b41334d7df
19:13325428 CACNA1A A>G	19	13325428	13325428	A	G	CACNA1A	c.5750-6T>C	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13325428A>G	(Likely) benign	1 lab	b416242d15
19:1469888 APC2 C>A	19	1469888	1469888	C	A	APC2	c.6588C>A	NM_005883.2	NP_005874.1:p.(Val2196=)	NC_000019.9:g.1469888C>A	VUS	1 lab	b41a070990
X:85211224 CHM C>A	X	85211224	85211224	C	A	CHM	c.1100G>T	NM_000390.2	NP_000381.1:p.(Arg367Leu)	NC_000023.10:g.85211224C>A	VUS	1 lab	b41a5465fd
X:153690629 PLXNA3 G>A	X	153690629	153690629	G	A	PLXNA3	c.1296G>A	NM_017514.4	NP_059984.3:p.(Thr432=)	NC_000023.10:g.153690629G>A	(Likely) benign	1 lab	b41acd9f2b
4:151505226 MAB21L2 A>G	4	151505226	151505226	A	G	MAB21L2	c.1045A>G	NM_006439.4	NP_006430.1:p.(Ile349Val)	NC_000004.11:g.151505226A>G	(Likely) benign	1 lab	b41baa76b4
14:23893325 MYH7 A>G	14	23893325	23893325	A	G	MYH7	c.2713T>C	NM_000257.2	NP_000248.2:p.(Cys905Arg)	NC_000014.8:g.23893325A>G	(Likely) pathogenic	1 lab	b41c5128e4
12:52139815 SCN8A A>C	12	52139815	52139815	A	C	SCN8A	c.2127A>C	NM_014191.3	NP_055006.1:p.(Val709=)	NC_000012.11:g.52139815A>C	(Likely) benign	1 lab	b41cedf831
7:117306968 CFTR GA>G	7	117306968	117306970	GA	G	CFTR	c.4251del	NM_000492.4	NP_000483.3:p.(Glu1418ArgfsTer14)	NC_000007.13:g.117306970del	(Likely) pathogenic	1 lab	b41da884b0
8:144993490 PLEC C>T	8	144993490	144993490	C	T	PLEC	c.10910G>A	NM_201380.3	NP_958782.1:p.(Arg3637His)	NC_000008.10:g.144993490C>T	(Likely) benign	1 lab	b41eb07b83
2:97462777 CNNM4 G>A	2	97462777	97462777	G	A	CNNM4	c.1431G>A	NM_020184.3	NP_064569.3:p.(Lys477=)	NC_000002.11:g.97462777G>A	(Likely) benign	1 lab	b41fd09b5f
11:19970453 NAV2 C>T	11	19970453	19970453	C	T	NAV2	c.2541C>T	NM_001244963.1	NP_001231892.1:p.(Ser847=)	NC_000011.9:g.19970453C>T	(Likely) benign	1 lab	b41fe765df
4:985060 SLC26A1 G>A	4	985060	985060	G	A	SLC26A1	c.432C>T	NM_213613.3	NP_998778.1:p.(Ala144=)	NC_000004.11:g.985060G>A	(Likely) benign	1 lab	b420bc455f
18:77748972 TXNL4A C>T	18	77748972	77748972	C	T	TXNL4A				NC_000018.9:g.77748972C>T	(Likely) benign	1 lab	b423769903
X:153592716 FLNA C>G	X	153592716	153592716	C	G	FLNA	c.2047G>C	NM_001110556.2	NP_001104026.1:p.(Glu683Gln)	NC_000023.10:g.153592716C>G	VUS	1 lab	b423ced87b
9:71866194 TJP2 C>T	9	71866194	71866194	C	T	TJP2	c.3235C>T	NM_004817.4	NP_004808.2:p.(Leu1079=)	NC_000009.11:g.71866194C>T	(Likely) benign	1 lab	b423e323ed
12:120295498 CIT G>A	12	120295498	120295498	G	A	CIT	c.243C>T	NM_001206999.1	NP_001193928.1:p.(Ser81=)	NC_000012.11:g.120295498G>A	(Likely) benign	1 lab	b424c53780
8:10467094 RP1L1 G>A	8	10467094	10467094	G	A	RP1L1	c.4514C>T	NM_178857.5	NP_849188.4:p.(Ser1505Leu)	NC_000008.10:g.10467094G>A	(Likely) benign	1 lab	b42904b03d
8:100729482 VPS13B A>C	8	100729482	100729482	A	C	VPS13B	c.6613A>C	NM_017890.4	NP_060360.3:p.(Ile2205Leu)	NC_000008.10:g.100729482A>C	(Likely) benign	1 lab	b42aec39ab
2:179408019 TTN G>C	2	179408019	179408019	G	C	TTN	c.96681C>G	NM_001267550.1	NP_001254479.1:p.(Leu32227=)	NC_000002.11:g.179408019G>C	(Likely) benign	1 lab	b42d5d4490
18:6958534 LAMA1 G>A	18	6958534	6958534	G	A	LAMA1	c.7906C>T	NM_005559.3	NP_005550.2:p.(Leu2636=)	NC_000018.9:g.6958534G>A	(Likely) benign	1 lab	b42da435dc
16:3024324 PKMYT1 C>T	16	3024324	3024324	C	T	PKMYT1	c.1074G>A	NM_182687.2	NP_872629.1:p.(Val358=)	NC_000016.9:g.3024324C>T	(Likely) benign	1 lab	b42f7bab6f
21:45947307 TSPEAR C>T	21	45947307	45947307	C	T	TSPEAR	c.813G>A	NM_001272037.1	NP_001258966.1:p.(Gly271=)	NC_000021.8:g.45947307C>T	(Likely) benign	1 lab	b430a5639b
21:43905850 RSPH1 C>T	21	43905850	43905850	C	T	RSPH1	c.430G>A	NM_080860.3	NP_543136.1:p.(Gly144Arg)	NC_000021.8:g.43905850C>T	VUS	1 lab	b431af7e4e
16:841874 CHTF18 G>A	16	841874	841874	G	A	CHTF18	c.1128G>A	NM_022092.3	NP_071375.1:p.(Pro376=)	NC_000016.9:g.841874G>A	VUS	1 lab	b432366076
16:2121610 TSC2 G>A	16	2121610	2121610	G	A	TSC2	c.1939G>A	NM_001114382.2	NP_001107854.1:p.(Asp647Asn)	NC_000016.9:g.2121610G>A	VUS	1 lab	b43258b0a1
X:14883564 FANCB A>G	X	14883564	14883564	A	G	FANCB	c.69T>C	NM_001018113.1	NP_001018123.1:p.(Leu23=)	NC_000023.10:g.14883564A>G	(Likely) benign	1 lab	b43295ca30
X:44101515 EFHC2 A>G	X	44101515	44101515	A	G	EFHC2	c.1132T>C	NM_025184.3	NP_079460.2:p.(Cys378Arg)	NC_000023.10:g.44101515A>G	VUS	1 lab	b432bac980
16:2143099 PKD1 T>C	16	2143099	2143099	T	C	PKD1	c.11017-5A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2143099T>C	(Likely) benign	1 lab	b4331039bd
2:1695771 PXDN C>T	2	1695771	1695771	C	T	PXDN	c.273G>A	NM_012293.2	NP_036425.1:p.(Leu91=)	NC_000002.11:g.1695771C>T	(Likely) benign	1 lab	b433886aea
9:80869773 CEP78 G>C	9	80869773	80869773	G	C	CEP78	c.1276G>C	NM_001349839.1	NP_001336768.1:p.(Val426Leu)	NC_000009.11:g.80869773G>C	VUS	1 lab	b43528c9ae
X:17394057 NHS C>A	X	17394057	17394057	C	A	NHS	c.177C>A	NM_001291867.1	NP_001278796.1:p.(Arg59=)	NC_000023.10:g.17394057C>A	(Likely) benign	1 lab	b435c1e97d
1:231411060 GNPAT G>A	1	231411060	231411060	G	A	GNPAT	c.1837G>A	NM_014236.3	NP_055051.1:p.(Asp613Asn)	NC_000001.10:g.231411060G>A	(Likely) benign	1 lab	b436e08824
10:26462922 MYO3A G>A	10	26462922	26462922	G	A	MYO3A	c.3729G>A	NM_017433.5	NP_059129.3:p.(Arg1243=)	NC_000010.10:g.26462922G>A	(Likely) benign	1 lab	b43af36149
16:30196593 CORO1A C>T	16	30196593	30196593	C	T	CORO1A	c.63C>T	NM_007074.3	NP_009005.1:p.(Ala21=)	NC_000016.9:g.30196593C>T	(Likely) benign	1 lab	b43afd5cd2
3:193366614 OPA1 A>G	3	193366614	193366614	A	G	OPA1	c.1966A>G	NM_130837.2	NP_570850.2:p.(Ile656Val)	NC_000003.11:g.193366614A>G	VUS	1 lab	b43b0b8c97
5:149301225 PDE6A G>C	5	149301225	149301225	G	C	PDE6A	c.906C>G	NM_000440.2	NP_000431.2:p.(Tyr302Ter)	NC_000005.9:g.149301225G>C	(Likely) pathogenic	1 lab	b43c1a76c5
X:26236215 MAGEB5 C>T	X	26236215	26236215	C	T	MAGEB5	c.797C>T	NM_001271752.1	NP_001258681.1:p.(Ala266Val)	NC_000023.10:g.26236215C>T	(Likely) benign	1 lab	b43d29935b
17:41245147 BRCA1 A>G	17	41245147	41245147	A	G	BRCA1	c.2401T>C	NM_007294.3	NP_009225.1:p.(Cys801Arg)	NC_000017.10:g.41245147A>G	VUS	1 lab	b43e563109
12:49437463 KMT2D C>G	12	49437463	49437463	C	G	KMT2D				NC_000012.11:g.49437463C>G	VUS	1 lab	2fbcc5a2ff
1:1291057 MXRA8 G>A	1	1291057	1291057	G	A	MXRA8	c.122C>T	NM_001282583.1	NP_001269512.1:p.(Ala41Val)	NC_000001.10:g.1291057G>A	VUS	1 lab	b44050f790
11:57085348 TNKS1BP1 C>T	11	57085348	57085348	C	T	TNKS1BP1	c.742G>A	NM_033396.3	NP_203754.2:p.(Asp248Asn)	NC_000011.9:g.57085348C>T	(Likely) benign	1 lab	b444b66c56
4:119203330 PRSS12 G>A	4	119203330	119203330	G	A	PRSS12	c.2389C>T	NM_003619.3	NP_003610.2:p.(Arg797Cys)	NC_000004.11:g.119203330G>A	(Likely) benign	1 lab	b444e4dd2b
X:46332400 KRABD4 T>C	X	46332400	46332400	T	C	KRABD4	c.454T>C	NM_017776.2	NP_060246.2:p.(Phe152Leu)	NC_000023.10:g.46332400T>C	(Likely) benign	1 lab	b4454afc96
4:79343106 FRAS1 C>A	4	79343106	79343106	C	A	FRAS1	c.4630C>A	NM_025074.7	NP_079350.5:p.(Pro1544Thr)	NC_000004.11:g.79343106C>A	VUS	1 lab	b4478fda7d
14:24629557 RNF31 G>A	14	24629557	24629557	G	A	RNF31	c.3106G>A	NM_017999.5	NP_060469.4:p.(Val1036Ile)	NC_000014.8:g.24629557G>A	(Likely) benign	1 lab	b44a372971
11:31827942 PAX6 G>A	11	31827942	31827942	G	A	PAX6				NC_000011.9:g.31827942G>A	(Likely) benign	1 lab	b44ad741d8
X:153175369 ARHGAP4 C>T	X	153175369	153175369	C	T	ARHGAP4	c.2360G>A	NM_001164741.1	NP_001158213.1:p.(Gly787Glu)	NC_000023.10:g.153175369C>T	VUS	1 lab	b44cb1025d
14:76211468 TTLL5 G>T	14	76211468	76211468	G	T	TTLL5	c.1312G>T	NM_015072.4	NP_055887.3:p.(Glu438Ter)	NC_000014.8:g.76211468G>T	(Likely) pathogenic	1 lab	b44cd90954
10:79741243 POLR3A G>A	10	79741243	79741243	G	A	POLR3A	c.3834C>T	NM_007055.3	NP_008986.2:p.(His1278=)	NC_000010.10:g.79741243G>A	(Likely) benign	1 lab	b44e10007f
6:51923389 PKHD1 G>A	6	51923389	51923389	G	A	PKHD1	c.1244C>T	NM_138694.3	NP_619639.3:p.(Ala415Val)	NC_000006.11:g.51923389G>A	VUS	1 lab	b44e8e92d7
12:100811894 SLC17A8 T>C	12	100811894	100811894	T	C	SLC17A8				NC_000012.11:g.100811894T>C	(Likely) benign	1 lab	03ae2bc26c
8:126091139 WASHC5 G>A	8	126091139	126091139	G	A	WASHC5	c.552C>T	NM_014846.3	NP_055661.3:p.(Asp184=)	NC_000008.10:g.126091139G>A	(Likely) benign	1 lab	b44f86a892
3:139071522 MRPS22 C>T	3	139071522	139071522	C	T	MRPS22	c.766C>T	NM_020191.3	NP_064576.1:p.(Arg256Cys)	NC_000003.11:g.139071522C>T	(Likely) benign	1 lab	b45104ceb2
22:35719874 TOM1 C>A	22	35719874	35719874	C	A	TOM1	c.615C>A	NM_001135732.1	NP_001129204.1:p.(Ser205=)	NC_000022.10:g.35719874C>A	VUS	1 lab	b453436583
21:46131373 TSPEAR G>A	21	46131373	46131373	G	A	TSPEAR	c.57C>T	NM_144991.2	NP_659428.2:p.(Gly19=)	NC_000021.8:g.46131373G>A	(Likely) benign	1 lab	b4537a622d
17:29679316 NF1 CT>C	17	29679316	29679317	CT	C	NF1	c.7500del	NM_001042492.3	NP_001035957.1:p.(Glu2501LysfsTer22)	NC_000017.10:g.29679317del	(Likely) pathogenic	1 lab	b4551618f9
7:86521166 ELAPOR2 G>A	7	86521166	86521166	G	A	ELAPOR2	c.2904C>T	NM_001142749.3	NP_001136221.1:p.(Asn968=)	NC_000007.13:g.86521166G>A	(Likely) benign	1 lab	b455f03ac8
5:14388797 TRIO GTT>G	5	14388797	14388815	GTT	G	TRIO	c.3948+26_3948+27del	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14388814_14388815del	(Likely) benign	1 lab	b4570412bf
4:79202547 FRAS1 C>T	4	79202547	79202547	C	T	FRAS1	c.1072-5C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79202547C>T	(Likely) benign	1 lab	b45721fe95
2:97426805 CNNM4 G>A	2	97426805	97426805	G	A	CNNM4	c.69G>A	NM_020184.3	NP_064569.3:p.(Ala23=)	NC_000002.11:g.97426805G>A	(Likely) benign	1 lab	b45aa735b6
1:46151294 GPBP1L1 T>C	1	46151294	46151294	T	C	GPBP1L1	c.-1142-2A>G	NM_021639.5	NP_067652.1:p.?	NC_000001.10:g.46151294T>C	VUS	1 lab	b45ded682a
8:30958450 WRN C>T	8	30958450	30958450	C	T	WRN	c.2067C>T	NM_000553.4	NP_000544.2:p.(Ser689=)	NC_000008.10:g.30958450C>T	(Likely) benign	1 lab	b45f74dae5
9:132580832 TOR1A C>T	9	132580832	132580832	C	T	TOR1A	c.715G>A	NM_000113.2	NP_000104.1:p.(Ala239Thr)	NC_000009.11:g.132580832C>T	(Likely) benign	1 lab	b46067a900
17:29670153 NF1 GGTAAAAA>TT	17	29670153	29670160	GGTAAAAA	TT	NF1	c.7126_7126+7delinsTT	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29670153_29670160delinsTT	(Likely) pathogenic	1 lab	b460d8ad68
19:11319689 DOCK6 G>A	19	11319689	11319689	G	A	DOCK6	c.4842C>T	NM_020812.3	NP_065863.2:p.(Ala1614=)	NC_000019.9:g.11319689G>A	(Likely) benign	1 lab	b46106f218
9:34650438 GALT A>G	9	34650438	34650438	A	G	GALT	c.1132A>G	NM_000155.3	NP_000146.2:p.(Ile378Val)	NC_000009.11:g.34650438A>G	(Likely) pathogenic	1 lab	b4621714e8
6:31938176 DXO C>T	6	31938176	31938176	C	T	DXO	c.892G>A	NM_005510.4	NP_005501.2:p.(Gly298Ser)	NC_000006.11:g.31938176C>T	VUS	1 lab	b462c345e1
15:90174890 KIF7 T>C	15	90174890	90174890	T	C	KIF7	c.2947A>G	NM_198525.2	NP_940927.2:p.(Lys983Glu)	NC_000015.9:g.90174890T>C	VUS	1 lab	b46346561d
17:45377906 ITGB3 G>A	17	45377906	45377906	G	A	ITGB3	c.1976G>A	NM_000212.2	NP_000203.2:p.(Arg659His)	NC_000017.10:g.45377906G>A	(Likely) benign	1 lab	b463d230e4
1:236157132 NID1 A>G	1	236157132	236157132	A	G	NID1	c.2568T>C	NM_002508.2	NP_002499.2:p.(Ile856=)	NC_000001.10:g.236157132A>G	(Likely) benign	1 lab	b465c4d605
11:73814194 C2CD3 C>T	11	73814194	73814194	C	T	C2CD3	c.2562G>A	NM_001286577.1	NP_001273506.1:p.(Pro854=)	NC_000011.9:g.73814194C>T	(Likely) benign	1 lab	b466550e2c
14:52174911 FRMD6 G>A	14	52174911	52174911	G	A	FRMD6	c.650G>A	NM_001042481.2	NP_001035946.1:p.(Arg217Gln)	NC_000014.8:g.52174911G>A	VUS	1 lab	b469aa021f
1:197111693 ASPM T>C	1	197111693	197111693	T	C	ASPM	c.1689A>G	NM_018136.4	NP_060606.3:p.(Thr563=)	NC_000001.10:g.197111693T>C	(Likely) benign	1 lab	b46b7297d6
X:152088887 ZNF185 C>T	X	152088887	152088887	C	T	ZNF185	c.546C>T	NM_001178106.1	NP_001171577.1:p.(Ser182=)	NC_000023.10:g.152088887C>T	(Likely) benign	1 lab	b46bb45e72
20:53205336 DOK5 G>C	20	53205336	53205336	G	C	DOK5	c.400G>C	NM_018431.4	NP_060901.2:p.(Glu134Gln)	NC_000020.10:g.53205336G>C	VUS	1 lab	b46be6c49f
17:78084640 GAA G>T	17	78084640	78084640	G	T	GAA	c.1551+1G>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78084640G>T	(Likely) pathogenic	1 lab	b46c0cac29
17:61911070 SMARCD2 G>C	17	61911070	61911070	G	C	SMARCD2	c.1194C>G	NM_001098426.1	NP_001091896.1:p.(Asn398Lys)	NC_000017.10:g.61911070G>C	(Likely) benign	1 lab	b46c1fa165
7:103180708 RELN G>A	7	103180708	103180708	G	A	RELN	c.6866C>T	NM_173054.2	NP_774959.1:p.(Thr2289Ile)	NC_000007.13:g.103180708G>A	VUS	1 lab	b46f3dc59b
17:41246832 BRCA1 T>C	17	41246832	41246832	T	C	BRCA1	c.716A>G	NM_007294.3	NP_009225.1:p.(His239Arg)	NC_000017.10:g.41246832T>C	(Likely) benign	1 lab	b46f4cf010
X:29414532 IL1RAPL1 A>G	X	29414532	29414532	A	G	IL1RAPL1	c.520A>G	NM_014271.3	NP_055086.1:p.(Thr174Ala)	NC_000023.10:g.29414532A>G	(Likely) benign	1 lab	b46f55d2ac
7:97862960 TECPR1 G>A	7	97862960	97862960	G	A	TECPR1	c.1445C>T	NM_015395.2	NP_056210.1:p.(Pro482Leu)	NC_000007.13:g.97862960G>A	(Likely) benign	1 lab	b46f61c888
15:51778517 DMXL2 C>A	15	51778517	51778517	C	A	DMXL2	c.5235G>T	NM_001174116.1	NP_001167587.1:p.(Met1745Ile)	NC_000015.9:g.51778517C>A	VUS	1 lab	b470064810
21:43896001 RSPH1 A>T	21	43896001	43896001	A	T	RSPH1	c.877+7T>A	NM_080860.3	NP_543136.1:p.?	NC_000021.8:g.43896001A>T	(Likely) benign	1 lab	b470b393bc
10:100177983 HPS1 A>G	10	100177983	100177983	A	G	HPS1	c.917T>C	NM_001322487.1	NP_001309416.1:p.(Val306Ala)	NC_000010.10:g.100177983A>G	VUS	1 lab	b4711f8946
11:102449808 MMP20 C>G	11	102449808	102449808	C	G	MMP20	c.1313G>C	NM_004771.3	NP_004762.2:p.(Gly438Ala)	NC_000011.9:g.102449808C>G	VUS	1 lab	b471f55eea
1:91403290 ZNF644 A>G	1	91403290	91403290	A	G	ZNF644	c.3440T>C	NM_201269.2	NP_958357.1:p.(Leu1147Pro)	NC_000001.10:g.91403290A>G	VUS	1 lab	b472ca948c
20:2384236 TGM6 G>A	20	2384236	2384236	G	A	TGM6	c.1103G>A	NM_198994.2	NP_945345.2:p.(Arg368Gln)	NC_000020.10:g.2384236G>A	(Likely) benign	1 lab	b47669b9c7
16:2126486 TSC2 T>TGCCAG	16	2126486	2126492	T	TGCCAG	TSC2	c.2743-4_2743dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126488_2126492dup	VUS	1 lab	b47973c59d
7:151874692 KMT2C G>A	7	151874692	151874692	G	A	KMT2C	c.7846C>T	NM_170606.2	NP_733751.2:p.(Pro2616Ser)	NC_000007.13:g.151874692G>A	(Likely) benign	1 lab	b47b7ac92c
14:75245331 YLPM1 C>G	14	75245331	75245331	C	G	YLPM1	c.1055C>G	NM_019589.3	NP_062535.2:p.(Pro352Arg)	NC_000014.8:g.75245331C>G	VUS	1 lab	b47b84a4fb
6:138199876 TNFAIP3 G>A	6	138199876	138199876	G	A	TNFAIP3	c.1294G>A	NM_001270507.1	NP_001257436.1:p.(Gly432Ser)	NC_000006.11:g.138199876G>A	VUS	1 lab	b47fc7b6d8
6:160431812 IGF2R A>G	6	160431812	160431812	A	G	IGF2R	c.508A>G	NM_000876.3	NP_000867.2:p.(Lys170Glu)	NC_000006.11:g.160431812A>G	VUS	1 lab	b4808db1e0
X:129059948 UTP14A G>C	X	129059948	129059948	G	C	UTP14A	c.1803G>C	NM_006649.4	NP_006640.2:p.(Gly601=)	NC_000023.10:g.129059948G>C	(Likely) benign	1 lab	b48091e8ca
11:17578684 OTOG A>G	11	17578684	17578684	A	G	OTOG	c.715A>G	NM_001277269.1	NP_001264198.1:p.(Met239Val)	NC_000011.9:g.17578684A>G	(Likely) benign	1 lab	b48153e51c
X:32472867 DMD C>A	X	32472867	32472867	C	A	DMD	c.3146G>T	NM_004010.3	NP_004001.1:p.(Trp1049Leu)	NC_000023.10:g.32472867C>A	VUS	1 lab	b482f7c352
14:67770249 MISSING A>C	14	67770249	67770249	A	C	MISSING				NC_000014.8:g.67770249A>C	(Likely) pathogenic	1 lab	03e327b697
17:36485998 GPR179 A>G	17	36485998	36485998	A	G	GPR179	c.3454T>C	NM_001004334.3	NP_001004334.3:p.(Ser1152Pro)	NC_000017.10:g.36485998A>G	(Likely) benign	1 lab	b48a24f0d4
12:8075604 SLC2A3 A>C	12	8075604	8075604	A	C	SLC2A3	c.1085T>G	NM_006931.3	NP_008862.1:p.(Met362Arg)	NC_000012.11:g.8075604A>C	VUS	1 lab	b48d4c2c5e
15:91298167 BLM C>T	15	91298167	91298167	C	T	BLM	c.1086C>T	NM_001287246.1	NP_001274175.1:p.(Asp362=)	NC_000015.9:g.91298167C>T	(Likely) benign	1 lab	b48ddb9f14
10:75854166 VCL T>C	10	75854166	75854166	T	C	VCL	c.1490T>C	NM_014000.2	NP_054706.1:p.(Ile497Thr)	NC_000010.10:g.75854166T>C	VUS	1 lab	b48f57bb9c
14:21894364 CHD8 T>TA	14	21894364	21894365	T	TA	CHD8	c.1638dup	NM_001170629.1	NP_001164100.1:p.(Asn547Ter)	NC_000014.8:g.21894365dup	(Likely) pathogenic	1 lab	b48f77e27b
X:19613088 SH3KBP1 G>A	X	19613088	19613088	G	A	SH3KBP1	c.1111C>T	NM_001353891.1	NP_001340820.1:p.(Pro371Ser)	NC_000023.10:g.19613088G>A	VUS	1 lab	b4902a35d3
1:152276316 FLG G>A	1	152276316	152276316	G	A	FLG	c.11046C>T	NM_002016.1	NP_002007.1:p.(His3682=)	NC_000001.10:g.152276316G>A	(Likely) benign	1 lab	b49077a18d
18:48723533 MEX3C G>A	18	48723533	48723533	G	A	MEX3C	c.158C>T	NM_016626.4	NP_057710.3:p.(Ala53Val)	NC_000018.9:g.48723533G>A	VUS	1 lab	b490fcb26f
14:45645949 FANCM C>T	14	45645949	45645949	C	T	FANCM	c.3992C>T	NM_020937.2	NP_065988.1:p.(Pro1331Leu)	NC_000014.8:g.45645949C>T	(Likely) benign	1 lab	b4923b166f
2:27679392 IFT172 G>A	2	27679392	27679392	G	A	IFT172	c.3357C>T	NM_015662.2	NP_056477.1:p.(His1119=)	NC_000002.11:g.27679392G>A	(Likely) benign	1 lab	b493806f14
4:128807811 PLK4 T>TTTTTAACTTCTTTTAACTTC	4	128807811	128807825	T	TTTTTAACTTCTTTTAACTTC	PLK4	c.1299_1300insTAACTTCTTTTAACTTCTTT	NM_014264.4	NP_055079.3:p.(Lys434Ter)	NC_000004.11:g.128807824_128807825insTAACTTCTTTTAACTTCTTT	(Likely) pathogenic	1 lab	b493bef422
10:112404371 RBM20 G>C	10	112404371	112404371	G	C	RBM20	c.159G>C	NM_001134363.1	NP_001127835.1:p.(Pro53=)	NC_000010.10:g.112404371G>C	(Likely) benign	1 lab	b493ff4d3d
X:49957052 AKAP4 T>G	X	49957052	49957052	T	G	AKAP4	c.2312A>C	NM_003886.2	NP_003877.2:p.(Gln771Pro)	NC_000023.10:g.49957052T>G	(Likely) benign	1 lab	b494ef1139
1:1458924 ATAD3A G>A	1	1458924	1458924	G	A	ATAD3A	c.1084G>A	NM_018188.4	NP_060658.3:p.(Ala362Thr)	NC_000001.10:g.1458924G>A	VUS	1 lab	b495876256
13:78493565 EDNRB G>A	13	78493565	78493565	G	A	EDNRB	c.186C>T	NM_001201397.1	NP_001188326.1:p.(Phe62=)	NC_000013.10:g.78493565G>A	(Likely) benign	1 lab	b4981639ae
5:176821059 SLC34A1 C>T	5	176821059	176821059	C	T	SLC34A1	c.1037C>T	NM_003052.4	NP_003043.3:p.(Pro346Leu)	NC_000005.9:g.176821059C>T	VUS	1 lab	b498e3ccaf
15:29561755 NSMCE3 C>T	15	29561755	29561755	C	T	NSMCE3	c.155G>A	NM_138704.3	NP_619649.1:p.(Arg52His)	NC_000015.9:g.29561755C>T	VUS	1 lab	b4998eff27
7:70231206 AUTS2 TCAGCAC>T	7	70231206	70231230	TCAGCAC	T	AUTS2	c.1594_1599del	NM_015570.4	NP_056385.1:p.(Gln532_His533del)	NC_000007.13:g.70231225_70231230del	VUS	1 lab	b49ae4af02
3:170198899 SLC7A14 G>A	3	170198899	170198899	G	A	SLC7A14	c.1172C>T	NM_020949.2	NP_066000.2:p.(Ser391Leu)	NC_000003.11:g.170198899G>A	VUS	1 lab	b49b21d75f
15:43584249 TGM7 G>T	15	43584249	43584249	G	T	TGM7	c.486C>A	NM_052955.2	NP_443187.1:p.(Ile162=)	NC_000015.9:g.43584249G>T	(Likely) benign	1 lab	b49bc8fb8a
2:47184106 TTC7A G>T	2	47184106	47184106	G	T	TTC7A	c.477G>T	NM_001288951.1	NP_001275880.1:p.(Leu159=)	NC_000002.11:g.47184106G>T	(Likely) benign	1 lab	b49d063d8e
17:29677220 NF1 AG>TCA	17	29677220	29677221	AG	TCA	NF1	c.7278_7279delinsTCA	NM_000267.3	NP_000258.1:p.(Glu2426AspfsTer12)	NC_000017.10:g.29677220_29677221delinsTCA	(Likely) pathogenic	1 lab	b49d1e456d
14:21868476 CHD8 G>T	14	21868476	21868476	G	T	CHD8	c.4571-10C>A	NM_001170629.1	NP_001164100.1:p.?	NC_000014.8:g.21868476G>T	(Likely) benign	1 lab	b49f4e8bf5
15:85186827 WDR73 C>A	15	85186827	85186827	C	A	WDR73	c.1011G>T	NM_032856.3	NP_116245.2:p.(Gly337=)	NC_000015.9:g.85186827C>A	VUS	1 lab	b4a1b5d4d2
4:88537198 DSPP C>T	4	88537198	88537198	C	T	DSPP	c.3384C>T	NM_014208.3	NP_055023.2:p.(Asp1128=)	NC_000004.11:g.88537198C>T	(Likely) benign	1 lab	b4a23acac6
16:2121978 TSC2 A>G	16	2121978	2121978	A	G	TSC2	c.2097+43A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2121978A>G	(Likely) benign	1 lab	b4a42795bc
2:217005902 XRCC5 G>GT	2	217005902	217005905	G	GT	XRCC5	c.1343-4dup	NM_021141.3	NP_066964.1:p.?	NC_000002.11:g.217005905dup	(Likely) benign	1 lab	b4a43d351c
9:386334 DOCK8 G>A	9	386334	386334	G	A	DOCK8	c.2782G>A	NM_203447.3	NP_982272.2:p.(Ala928Thr)	NC_000009.11:g.386334G>A	VUS	1 lab	b4a4d8ef3e
16:30991513 SETD1A C>T	16	30991513	30991513	C	T	SETD1A	c.4406C>T	NM_014712.2	NP_055527.1:p.(Thr1469Ile)	NC_000016.9:g.30991513C>T	VUS	1 lab	b4a768904d
15:93527619 CHD2 C>T	15	93527619	93527619	C	T	CHD2	c.3126C>T	NM_001271.3	NP_001262.3:p.(Asp1042=)	NC_000015.9:g.93527619C>T	(Likely) benign	1 lab	b4a778ee7e
2:47637281 MSH2 A>G	2	47637281	47637281	A	G	MSH2	c.415A>G	NM_000251.2	NP_000242.1:p.(Asn139Asp)	NC_000002.11:g.47637281A>G	(Likely) benign	1 lab	b4a9400d05
X:142121832 SPANXN4 G>A	X	142121832	142121832	G	A	SPANXN4	c.100G>A	NM_001009613.2	NP_001009613.1:p.(Ala34Thr)	NC_000023.10:g.142121832G>A	(Likely) benign	1 lab	b4ab535e6e
12:106460963 NUAK1 T>C	12	106460963	106460963	T	C	NUAK1	c.1603A>G	NM_014840.2	NP_055655.1:p.(Thr535Ala)	NC_000012.11:g.106460963T>C	(Likely) benign	1 lab	b4abae31ab
18:60985441 BCL2 G>A	18	60985441	60985441	G	A	BCL2	c.459C>T	NM_000633.2	NP_000624.2:p.(Phe153=)	NC_000018.9:g.60985441G>A	(Likely) benign	1 lab	b4ad243613
1:47735468 STIL G>A	1	47735468	47735468	G	A	STIL	c.2454C>T	NM_001048166.1	NP_001041631.1:p.(Thr818=)	NC_000001.10:g.47735468G>A	(Likely) benign	1 lab	b4ae4b62f4
5:41149443 C6 G>A	5	41149443	41149443	G	A	C6	c.2523C>T	NM_001115131.2	NP_001108603.2:p.(Arg841=)	NC_000005.9:g.41149443G>A	(Likely) benign	1 lab	b4af147cb1
8:6303069 MCPH1 G>C	8	6303069	6303069	G	C	MCPH1	c.1724G>C	NM_001322045.1	NP_001308974.1:p.(Ser575Thr)	NC_000008.10:g.6303069G>C	(Likely) benign	1 lab	b4af199970
17:29654854 NF1 T>G	17	29654854	29654854	T	G	NF1	c.5543T>G	NM_000267.3	NP_000258.1:p.(Leu1848Ter)	NC_000017.10:g.29654854T>G	(Likely) pathogenic	1 lab	b4aff3661b
4:113568633 LARP7 C>T	4	113568633	113568633	C	T	LARP7	c.946C>T	NM_001267039.1	NP_001253968.1:p.(Arg316Ter)	NC_000004.11:g.113568633C>T	(Likely) pathogenic	1 lab	b4b0eb8d72
17:29592346 NF1 T>G	17	29592346	29592346	T	G	NF1	c.4761T>G	NM_000267.3	NP_000258.1:p.(Tyr1587Ter)	NC_000017.10:g.29592346T>G	(Likely) pathogenic	1 lab	b4b13e580e
11:795170 SLC25A22 C>T	11	795170	795170	C	T	SLC25A22	c.-163-1G>A	NM_001191060.1	NP_001177989.1:p.?	NC_000011.9:g.795170C>T	VUS	1 lab	b4b1d67876
14:64595160 SYNE2 T>C	14	64595160	64595160	T	C	SYNE2	c.13918-10T>C	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64595160T>C	(Likely) benign	1 lab	b4b1d94878
X:63488417 MTMR8 T>G	X	63488417	63488417	T	G	MTMR8	c.2115A>C	NM_017677.3	NP_060147.2:p.(Ter705CysextTer31)	NC_000023.10:g.63488417T>G	VUS	1 lab	b4b1f50ee0
12:122693075 DIABLO T>C	12	122693075	122693075	T	C	DIABLO	c.414A>G	NM_001278304.1	NP_001265233.1:p.(Lys138=)	NC_000012.11:g.122693075T>C	VUS	1 lab	b4b2ff8841
5:64267534 CWC27 A>G	5	64267534	64267534	A	G	CWC27	c.1047A>G	NM_005869.4	NP_005860.2:p.(Glu349=)	NC_000005.9:g.64267534A>G	(Likely) benign	1 lab	b4b373e735
12:56630505 SLC39A5 C>A	12	56630505	56630505	C	A	SLC39A5	c.1182C>A	NM_173596.2	NP_775867.2:p.(His394Gln)	NC_000012.11:g.56630505C>A	VUS	1 lab	b4b3d0eadd
13:111077400 COL4A2 AT>A	13	111077400	111077404	AT	A	COL4A2	c.360+60del	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111077404del	(Likely) benign	1 lab	b4b43cc098
14:99876545 SETD3 T>G	14	99876545	99876545	T	G	SETD3	c.857A>C	NM_199123.1	NP_954574.1:p.(Glu286Ala)	NC_000014.8:g.99876545T>G	VUS	1 lab	b4b44b8f0e
10:95372838 PDE6C C>T	10	95372838	95372838	C	T	PDE6C	c.356C>T	NM_006204.3	NP_006195.3:p.(Pro119Leu)	NC_000010.10:g.95372838C>T	VUS	1 lab	b4b607fd4c
16:27788317 KATNIP G>A	16	27788317	27788317	G	A	KATNIP	c.4518G>A	NM_015202.3	NP_056017.3:p.(Ala1506=)	NC_000016.9:g.27788317G>A	(Likely) benign	1 lab	b4b65ec8f9
X:49066792 CACNA1F C>G	X	49066792	49066792	C	G	CACNA1F	c.4590G>C	NM_005183.3	NP_005174.2:p.(Leu1530=)	NC_000023.10:g.49066792C>G	(Likely) benign	1 lab	b4b8387228
7:44149606 AEBP1 G>A	7	44149606	44149606	G	A	AEBP1	c.1151-8G>A	NM_001129.4	NP_001120.3:p.?	NC_000007.13:g.44149606G>A	(Likely) benign	1 lab	b4b89bc856
4:90035697 TIGD2 T>G	4	90035697	90035697	T	G	TIGD2	c.1572T>G	NM_145715.2	NP_663761.1:p.(Asn524Lys)	NC_000004.11:g.90035697T>G	(Likely) benign	1 lab	b4ba5cd41e
17:17701466 RAI1 C>T	17	17701466	17701466	C	T	RAI1	c.5204C>T	NM_030665.3	NP_109590.3:p.(Pro1735Leu)	NC_000017.10:g.17701466C>T	(Likely) benign	1 lab	b4ba9424c9
19:36212514 KMT2B A>G	19	36212514	36212514	A	G	KMT2B	c.2265A>G	NM_014727.2	NP_055542.1:p.(Pro755=)	NC_000019.9:g.36212514A>G	(Likely) benign	1 lab	b4bbaf0a52
X:47478989 SYN1 C>T	X	47478989	47478989	C	T	SYN1	c.139G>A	NM_006950.3	NP_008881.2:p.(Gly47Arg)	NC_000023.10:g.47478989C>T	(Likely) benign	1 lab	b4bc16d5d9
1:228470900 OBSCN C>T	1	228470900	228470900	C	T	OBSCN	c.9939C>T	NM_001271223.2	NP_001258152.2:p.(Val3313=)	NC_000001.10:g.228470900C>T	(Likely) benign	1 lab	b4bc307175
1:197070313 ASPM G>A	1	197070313	197070313	G	A	ASPM	c.8068C>T	NM_018136.4	NP_060606.3:p.(Arg2690Trp)	NC_000001.10:g.197070313G>A	VUS	1 lab	b4bc7c269f
9:2096774 SMARCA2 G>T	9	2096774	2096774	G	T	SMARCA2	c.2991+10G>T	NM_003070.4	NP_003061.3:p.?	NC_000009.11:g.2096774G>T	(Likely) benign	1 lab	b4bf51c181
9:119460522 TRIM32 G>A	9	119460522	119460522	G	A	TRIM32	c.501G>A	NM_012210.3	NP_036342.2:p.(Lys167=)	NC_000009.11:g.119460522G>A	(Likely) benign	1 lab	b4c2a442fe
X:71932782 PHKA1 G>T	X	71932782	71932782	G	T	PHKA1	c.79-3C>A	NM_002637.3	NP_002628.2:p.?	NC_000023.10:g.71932782G>T	VUS	1 lab	b4c35607ad
1:181767794 MISSING G>A	1	181767794	181767794	G	A	MISSING				NC_000001.10:g.181767794G>A	VUS	1 lab	b4c3b7301f
8:61749420 CHD7 G>A	8	61749420	61749420	G	A	CHD7				NC_000008.10:g.61749420G>A	(Likely) pathogenic	1 lab	c45db0e82e
17:7752262 KDM6B G>A	17	7752262	7752262	G	A	KDM6B	c.2656G>A	NM_001080424.2	NP_001073893.1:p.(Glu886Lys)	NC_000017.10:g.7752262G>A	(Likely) benign	1 lab	b4c45ba038
9:139405170 NOTCH1 C>T	9	139405170	139405170	C	T	NOTCH1	c.2675G>A	NM_017617.5	NP_060087.3:p.(Arg892His)	NC_000009.11:g.139405170C>T	(Likely) benign	1 lab	b4c5468f69
1:11017711 CIROZ C>T	1	11017711	11017711	C	T	CIROZ	c.655G>A	NM_001170754.1	NP_001164225.1:p.(Val219Ile)	NC_000001.10:g.11017711C>T	(Likely) benign	1 lab	b4c5c0abde
2:50733745 NRXN1 G>C	2	50733745	50733745	G	C	NRXN1	c.2505C>G	NM_001135659.2	NP_001129131.1:p.(Pro835=)	NC_000002.11:g.50733745G>C	(Likely) benign	1 lab	b4c83fdd92
14:68157904 RDH11 G>A	14	68157904	68157904	G	A	RDH11	c.407C>T	NM_016026.3	NP_057110.3:p.(Ser136Leu)	NC_000014.8:g.68157904G>A	(Likely) benign	1 lab	b4cba235f2
9:114520419 SHOC1 A>G	9	114520419	114520419	A	G	SHOC1	c.461T>C	NM_173521.4	NP_775792.4:p.(Met154Thr)	NC_000009.11:g.114520419A>G	VUS	1 lab	b4cc0853db
11:65637427 EFEMP2 C>T	11	65637427	65637427	C	T	EFEMP2	c.628G>A	NM_016938.4	NP_058634.4:p.(Gly210Arg)	NC_000011.9:g.65637427C>T	VUS	1 lab	b4ccc0bb0b
2:220080798 ABCB6 G>A	2	220080798	220080798	G	A	ABCB6	c.1075C>T	NM_005689.2	NP_005680.1:p.(Arg359Cys)	NC_000002.11:g.220080798G>A	VUS	1 lab	b4cd6ea5a8
15:42146327 SPTBN5 G>A	15	42146327	42146327	G	A	SPTBN5	c.9695C>T	NM_016642.4	NP_057726.4:p.(Thr3232Met)	NC_000015.9:g.42146327G>A	(Likely) benign	1 lab	b4cd8bc165
22:38121813 TRIOBP C>T	22	38121813	38121813	C	T	TRIOBP	c.3250C>T	NM_001039141.2	NP_001034230.1:p.(Pro1084Ser)	NC_000022.10:g.38121813C>T	VUS	1 lab	b4cf6757df
11:68080233 LRP5 G>A	11	68080233	68080233	G	A	LRP5	c.51G>A	NM_002335.3	NP_002326.2:p.(Leu17=)	NC_000011.9:g.68080233G>A	(Likely) benign	1 lab	b4d067cd13
5:139892433 ANKHD1 A>G	5	139892433	139892433	A	G	ANKHD1	c.4125A>G	NM_017747.3	NP_060217.1:p.(Gln1375=)	NC_000005.9:g.139892433A>G	(Likely) benign	1 lab	b4d1f95323
14:74970665 LTBP2 C>T	14	74970665	74970665	C	T	LTBP2	c.4546G>A	NM_000428.2	NP_000419.1:p.(Gly1516Ser)	NC_000014.8:g.74970665C>T	VUS	1 lab	b4d2c8ae15
2:170034473 LRP2 G>A	2	170034473	170034473	G	A	LRP2	c.10233C>T	NM_004525.3	NP_004516.2:p.(Phe3411=)	NC_000002.11:g.170034473G>A	(Likely) benign	1 lab	b4d2ea2732
X:66765158 AR TGCAGCAGCAGCA>T	X	66765158	66765227	TGCAGCAGCAGCA	T	AR	c.228_239del	NM_000044.6	NP_000035.2:p.(Gln77_Gln80del)	NC_000023.10:g.66765216_66765227del	(Likely) benign	1 lab	b4d2eecf57
8:74209466 RDH10 C>G	8	74209466	74209466	C	G	RDH10	c.327C>G	NM_172037.5	NP_742034.1:p.(Asn109Lys)	NC_000008.10:g.74209466C>G	VUS	1 lab	b4d2fcd647
15:63097913 TLN2 A>G	15	63097913	63097913	A	G	TLN2	c.6592A>G	NM_015059.2	NP_055874.2:p.(Arg2198Gly)	NC_000015.9:g.63097913A>G	(Likely) benign	1 lab	b4d79af968
15:28950659 GOLGA8M C>T	15	28950659	28950659	C	T	GOLGA8M	c.1101G>A	NM_001282468.1	NP_001269397.1:p.(Leu367=)	NC_000015.9:g.28950659C>T	(Likely) benign	1 lab	b4d8382357
14:105419156 AHNAK2 C>T	14	105419156	105419156	C	T	AHNAK2	c.2632G>A	NM_138420.3	NP_612429.2:p.(Ala878Thr)	NC_000014.8:g.105419156C>T	(Likely) benign	1 lab	b4db75a097
13:77566264 CLN5 G>T	13	77566264	77566264	G	T	CLN5	c.178G>T	NM_006493.2	NP_006484.1:p.(Ala60Ser)	NC_000013.10:g.77566264G>T	VUS	1 lab	b4db9c59bf
19:11097210 SMARCA4 C>T	19	11097210	11097210	C	T	SMARCA4	c.701C>T	NM_001128844.1	NP_001122316.1:p.(Pro234Leu)	NC_000019.9:g.11097210C>T	(Likely) benign	1 lab	b4dd8b8eac
22:51121823 MISSING A>G	22	51121823	51121823	A	G	MISSING				NC_000022.10:g.51121823A>G	(Likely) benign	1 lab	1e3f8787e9
1:220101281 SLC30A10 CGA>GG	1	220101281	220101283	CGA	GG	SLC30A10	c.500_502delinsCC	NM_018713.2	NP_061183.2:p.(Phe167SerfsTer25)	NC_000001.10:g.220101281_220101283delinsGG	(Likely) pathogenic	1 lab	b4dda61667
4:126411455 FAT4 A>G	4	126411455	126411455	A	G	FAT4	c.13478A>G	NM_024582.4	NP_078858.4:p.(Gln4493Arg)	NC_000004.11:g.126411455A>G	(Likely) benign	1 lab	b4dffa2854
15:51742476 DMXL2 C>T	15	51742476	51742476	C	T	DMXL2	c.8754G>A	NM_001174116.1	NP_001167587.1:p.(Ser2918=)	NC_000015.9:g.51742476C>T	(Likely) benign	1 lab	b4e0d36237
X:25025407 ARX G>A	X	25025407	25025407	G	A	ARX	c.1269C>T	NM_139058.2	NP_620689.1:p.(His423=)	NC_000023.10:g.25025407G>A	(Likely) benign	1 lab	b4e1de7086
11:64055923 GPR137 C>T	11	64055923	64055923	C	T	GPR137	c.745C>T	NM_001170881.1	NP_001164352.1:p.(Arg249Trp)	NC_000011.9:g.64055923C>T	VUS	1 lab	b4e3cf5905
15:82512125 EFL1 T>C	15	82512125	82512125	T	C	EFL1	c.1479A>G	NM_001322845.1	NP_001309774.1:p.(Lys493=)	NC_000015.9:g.82512125T>C	(Likely) benign	1 lab	b4e4f30637
22:28193854 MN1 G>C	22	28193854	28193854	G	C	MN1	c.2678C>G	NM_002430.2	NP_002421.3:p.(Pro893Arg)	NC_000022.10:g.28193854G>C	VUS	1 lab	b4e562d289
9:131008743 DNM1 C>G	9	131008743	131008743	C	G	DNM1	c.1742C>G	NM_001288738.1	NP_001275667.1:p.(Ser581Trp)	NC_000009.11:g.131008743C>G	VUS	1 lab	b4e5bb0ee2
12:81015918 MISSING G>C	12	81015918	81015918	G	C	MISSING				NC_000012.11:g.81015918G>C	VUS	1 lab	b4e5f272b0
17:79478199 ACTG1 G>A	17	79478199	79478199	G	A	ACTG1	c.802+15C>T	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79478199G>A	(Likely) benign	1 lab	b4e7a59e1c
14:23889245 MYH7 C>G	14	23889245	23889245	C	G	MYH7	c.3535G>C	NM_000257.2	NP_000248.2:p.(Glu1179Gln)	NC_000014.8:g.23889245C>G	VUS	1 lab	b4e7ca6478
5:92920836 NR2F1 G>C	5	92920836	92920836	G	C	NR2F1	c.107G>C	NM_005654.5	NP_005645.1:p.(Gly36Ala)	NC_000005.9:g.92920836G>C	VUS	1 lab	b4e7f50589
3:33065791 GLB1 G>A	3	33065791	33065791	G	A	GLB1	c.1239C>T	NM_001317040.1	NP_001303969.1:p.(Ile413=)	NC_000003.11:g.33065791G>A	(Likely) benign	1 lab	b4e9d9e566
11:120998952 TECTA A>G	11	120998952	120998952	A	G	TECTA				NC_000011.9:g.120998952A>G	VUS	1 lab	319db7f961
6:114178946 MARCKS G>T	6	114178946	114178946	G	T	MARCKS	c.25G>T	NM_002356.7	NP_002347.5:p.(Ala9Ser)	NC_000006.11:g.114178946G>T	VUS	1 lab	b4eb755d7a
1:3102888 PRDM16 G>A	1	3102888	3102888	G	A	PRDM16	c.237G>A	NM_022114.3	NP_071397.3:p.(Pro79=)	NC_000001.10:g.3102888G>A	(Likely) benign	1 lab	b4ebc64199
19:42260720 CEACAM6 C>G	19	42260720	42260720	C	G	CEACAM6	c.277C>G	NM_002483.7	NP_002474.4:p.(Pro93Ala)	NC_000019.9:g.42260720C>G	(Likely) benign	1 lab	b4ec35599c
X:54014260 PHF8 A>T	X	54014260	54014260	A	T	PHF8	c.1848T>A	NM_015107.2	NP_055922.1:p.(Asp616Glu)	NC_000023.10:g.54014260A>T	(Likely) benign	1 lab	b4edf0e080
X:16170699 GRPR G>A	X	16170699	16170699	G	A	GRPR	c.1086G>A	NM_005314.2	NP_005305.1:p.(Lys362=)	NC_000023.10:g.16170699G>A	(Likely) benign	1 lab	b4ee569e95
6:71665640 B3GAT2 C>A	6	71665640	71665640	C	A	B3GAT2	c.493G>T	NM_080742.2	NP_542780.1:p.(Ala165Ser)	NC_000006.11:g.71665640C>A	(Likely) benign	1 lab	b4f0a7f678
19:12769292 MAN2B1 G>A	19	12769292	12769292	G	A	MAN2B1	c.1059C>T	NM_000528.3	NP_000519.2:p.(Tyr353=)	NC_000019.9:g.12769292G>A	(Likely) benign	1 lab	b4f172b59b
19:3979795 EEF2 T>C	19	3979795	3979795	T	C	EEF2	c.1605+11A>G	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3979795T>C	(Likely) benign	1 lab	b4f277aa4c
6:139694793 CITED2 G>A	6	139694793	139694793	G	A	CITED2	c.289C>T	NM_006079.4	NP_006070.2:p.(Gln97Ter)	NC_000006.11:g.139694793G>A	VUS	1 lab	b4f2892d7f
12:54676610 HNRNPA1 G>A	12	54676610	54676610	G	A	HNRNPA1	c.703G>A	NM_031157.3	NP_112420.1:p.(Gly235Ser)	NC_000012.11:g.54676610G>A	VUS	1 lab	b4f299e166
1:183093762 LAMC1 C>T	1	183093762	183093762	C	T	LAMC1	c.2402-4C>T	NM_002293.3	NP_002284.3:p.?	NC_000001.10:g.183093762C>T	(Likely) benign	1 lab	b4f3cd49e6
11:46726257 ZNF408 C>T	11	46726257	46726257	C	T	ZNF408	c.1007C>T	NM_024741.2	NP_079017.1:p.(Ser336Leu)	NC_000011.9:g.46726257C>T	VUS	1 lab	b4f3ee9ac8
X:32380965 DMD G>A	X	32380965	32380965	G	A	DMD	c.4896C>T	NM_004010.3	NP_004001.1:p.(Pro1632=)	NC_000023.10:g.32380965G>A	(Likely) benign	1 lab	b4f55c4f80
4:186427821 PDLIM3 C>T	4	186427821	186427821	C	T	PDLIM3	c.663-15G>A	NM_014476.5	NP_055291.2:p.?	NC_000004.11:g.186427821C>T	(Likely) benign	1 lab	b4f8ae422c
19:49902392 KASH5 G>A	19	49902392	49902392	G	A	KASH5	c.740G>A	NM_144688.5	NP_653289.3:p.(Arg247Gln)	NC_000019.9:g.49902392G>A	VUS	1 lab	b4fb2d8050
2:84652594 SUCLG1 C>T	2	84652594	84652594	C	T	SUCLG1	c.959G>A	NM_003849.3	NP_003840.2:p.(Ser320Asn)	NC_000002.11:g.84652594C>T	(Likely) benign	1 lab	b4fd1402ba
X:11197447 ARHGAP6 C>T	X	11197447	11197447	C	T	ARHGAP6	c.1455G>A	NM_013427.2	NP_038286.2:p.(Leu485=)	NC_000023.10:g.11197447C>T	(Likely) benign	1 lab	b4fd2e6a4f
10:16948277 CUBN T>G	10	16948277	16948277	T	G	CUBN	c.7837A>C	NM_001081.3	NP_001072.2:p.(Ile2613Leu)	NC_000010.10:g.16948277T>G	(Likely) benign	1 lab	b4fd6042b5
19:17927754 INSL3 C>T	19	17927754	17927754	C	T	INSL3	c.400G>A	NM_001265587.1	NP_001252516.1:p.(Ala134Thr)	NC_000019.9:g.17927754C>T	(Likely) benign	1 lab	b4fdd05cf5
X:115304007 AGTR2 G>A	X	115304007	115304007	G	A	AGTR2	c.474G>A	NM_000686.4	NP_000677.2:p.(Trp158Ter)	NC_000023.10:g.115304007G>A	(Likely) benign	1 lab	b4fe6ef56d
15:32895661 GOLGA8N G>C	15	32895661	32895661	G	C	GOLGA8N	c.1561G>C	NM_001282494.1	NP_001269423.1:p.(Asp521His)	NC_000015.9:g.32895661G>C	(Likely) benign	1 lab	b4ffbdb18f
17:19265952 B9D1 C>T	17	19265952	19265952	C	T	B9D1	c.83G>A	NM_001243473.1	NP_001230402.1:p.(Arg28Lys)	NC_000017.10:g.19265952C>T	(Likely) benign	1 lab	b5000f7bf9
X:69669640 DLG3 T>C	X	69669640	69669640	T	C	DLG3	c.634T>C	NM_021120.3	NP_066943.2:p.(Leu212=)	NC_000023.10:g.69669640T>C	(Likely) benign	1 lab	b500f43706
14:76135776 TTLL5 T>C	14	76135776	76135776	T	C	TTLL5	c.92T>C	NM_015072.4	NP_055887.3:p.(Met31Thr)	NC_000014.8:g.76135776T>C	(Likely) benign	1 lab	b5013692e3
18:12351378 AFG3L2 G>A	18	12351378	12351378	G	A	AFG3L2	c.1353C>T	NM_006796.2	NP_006787.2:p.(Ala451=)	NC_000018.9:g.12351378G>A	(Likely) benign	1 lab	b50147b102
6:152772248 SYNE1 A>T	6	152772248	152772248	A	T	SYNE1	c.3120T>A	NM_182961.3	NP_892006.3:p.(Thr1040=)	NC_000006.11:g.152772248A>T	(Likely) benign	1 lab	b502a5084e
1:16456809 EPHA2 G>A	1	16456809	16456809	G	A	EPHA2	c.2581C>T	NM_004431.4	NP_004422.2:p.(Arg861Cys)	NC_000001.10:g.16456809G>A	VUS	1 lab	b504088fde
3:43122219 POMGNT2 G>T	3	43122219	43122219	G	T	POMGNT2	c.705C>A	NM_032806.5	NP_116195.2:p.(Gly235=)	NC_000003.11:g.43122219G>T	(Likely) benign	1 lab	b50473b9b7
11:66488539 SPTBN2 C>T	11	66488539	66488539	C	T	SPTBN2	c.157+16G>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66488539C>T	(Likely) benign	1 lab	b506065f87
9:20929426 FOCAD C>G	9	20929426	20929426	C	G	FOCAD	c.3148C>G	NM_017794.4	NP_060264.4:p.(Leu1050Val)	NC_000009.11:g.20929426C>G	VUS	1 lab	b508e4cc2b
11:67289443 CABP2 A>T	11	67289443	67289443	A	T	CABP2	c.242T>A	NM_001318496.1	NP_001305425.1:p.(Leu81Gln)	NC_000011.9:g.67289443A>T	VUS	1 lab	b509bd8643
19:12501578 ZNF799 G>A	19	12501578	12501578	G	A	ZNF799	c.1538C>T	NM_001322497.1	NP_001309426.1:p.(Thr513Ile)	NC_000019.9:g.12501578G>A	(Likely) benign	1 lab	b50a974ac3
2:220115572 TUBA4A G>A	2	220115572	220115572	G	A	TUBA4A	c.804C>T	NM_001278552.1	NP_001265481.1:p.(His268=)	NC_000002.11:g.220115572G>A	(Likely) benign	1 lab	b50d1e88ad
14:23523439 CDH24 C>A	14	23523439	23523439	C	A	CDH24	c.883G>T	NM_022478.3	NP_071923.2:p.(Ala295Ser)	NC_000014.8:g.23523439C>A	VUS	1 lab	b50d2964bc
8:100874103 VPS13B G>A	8	100874103	100874103	G	A	VPS13B	c.11219G>A	NM_017890.4	NP_060360.3:p.(Arg3740Gln)	NC_000008.10:g.100874103G>A	VUS	1 lab	b512e447d1
7:45717648 ADCY1 G>A	7	45717648	45717648	G	A	ADCY1	c.1786G>A	NM_021116.3	NP_066939.1:p.(Glu596Lys)	NC_000007.13:g.45717648G>A	VUS	1 lab	b514330ec4
22:20230602 RTN4R C>T	22	20230602	20230602	C	T	RTN4R	c.54G>A	NM_023004.5	NP_075380.1:p.(Leu18=)	NC_000022.10:g.20230602C>T	(Likely) benign	1 lab	b514751d7f
10:90703799 ACTA2 GT>G	10	90703799	90703803	GT	G	ACTA2	c.259-136del	NM_001613.4	NP_001604.1:p.?	NC_000010.10:g.90703803del	(Likely) benign	1 lab	b51921cea0
16:29496359 NPIPB12 A>G	16	29496359	29496359	A	G	NPIPB12	c.1438T>C	NM_001355401.1	NP_001342330.1:p.(Ser480Pro)	NC_000016.9:g.29496359A>G	VUS	1 lab	b51c7b1fb7
6:152472752 SYNE1 A>G	6	152472752	152472752	A	G	SYNE1	c.24386T>C	NM_182961.3	NP_892006.3:p.(Leu8129Pro)	NC_000006.11:g.152472752A>G	VUS	1 lab	b50a1f995c
X:50376657 SHROOM4 G>A	X	50376657	50376657	G	A	SHROOM4	c.2416C>T	NM_020717.3	NP_065768.2:p.(Pro806Ser)	NC_000023.10:g.50376657G>A	(Likely) benign	1 lab	b51cd00807
1:160276157 COPA C>T	1	160276157	160276157	C	T	COPA	c.1429G>A	NM_001098398.2	NP_001091868.1:p.(Val477Ile)	NC_000001.10:g.160276157C>T	VUS	1 lab	b51ee29c8c
10:55569229 PCDH15 G>A	10	55569229	55569229	G	A	PCDH15	c.4596C>T	NM_001142769.2	NP_001136241.1:p.(Ile1532=)	NC_000010.10:g.55569229G>A	(Likely) benign	1 lab	b52130959e
16:1630771 IFT140 G>A	16	1630771	1630771	G	A	IFT140	c.1513C>T	NM_014714.3	NP_055529.2:p.(Arg505Ter)	NC_000016.9:g.1630771G>A	(Likely) pathogenic	1 lab	b5216d4700
22:38508565 PLA2G6 C>T	22	38508565	38508565	C	T	PLA2G6	c.2222G>A	NM_003560.2	NP_003551.2:p.(Arg741Gln)	NC_000022.10:g.38508565C>T	(Likely) pathogenic	1 lab	b52510d038
9:71836378 TJP2 C>T	9	71836378	71836378	C	T	TJP2	c.918C>T	NM_004817.4	NP_004808.2:p.(Ile306=)	NC_000009.11:g.71836378C>T	(Likely) benign	1 lab	b525425f61
3:135720459 PPP2R3A A>ATGGAAT	3	135720459	135720467	A	ATGGAAT	PPP2R3A	c.122_127dup	NM_002718.4	NP_002709.2:p.(Gly41_Ile42dup)	NC_000003.11:g.135720462_135720467dup	VUS	1 lab	b5258a7ad5
X:53432569 SMC1A C>T	X	53432569	53432569	C	T	SMC1A	c.1701G>A	NM_001281463.1	NP_001268392.1:p.(Lys567=)	NC_000023.10:g.53432569C>T	(Likely) benign	1 lab	b5266a45fa
9:130996342 DNM1 G>C	9	130996342	130996342	G	C	DNM1				NC_000009.11:g.130996342G>C	VUS	1 lab	31fc412348
20:47626834 ARFGEF2 A>G	20	47626834	47626834	A	G	ARFGEF2	c.3650A>G	NM_006420.2	NP_006411.2:p.(Asn1217Ser)	NC_000020.10:g.47626834A>G	VUS	1 lab	b5279f8aff
12:102224436 GNPTAB C>T	12	102224436	102224436	C	T	GNPTAB	c.18G>A	NM_024312.4	NP_077288.2:p.(Leu6=)	NC_000012.11:g.102224436C>T	(Likely) benign	1 lab	b52b5860f5
14:103396581 AMN G>GGGCGGCGT	14	103396581	103396595	G	GGGCGGCGT	AMN	c.1093_1100dup	NM_030943.3	NP_112205.2:p.(Ala368TrpfsTer49)	NC_000014.8:g.103396588_103396595dup	(Likely) pathogenic	1 lab	b52b700b77
19:54307320 NLRP12 C>A	19	54307320	54307320	C	A	NLRP12	c.2474G>T	NM_001277126.1	NP_001264055.1:p.(Gly825Val)	NC_000019.9:g.54307320C>A	(Likely) benign	1 lab	b52c9be94b
1:235972143 LYST A>G	1	235972143	235972143	A	G	LYST	c.1975T>C	NM_001301365.1	NP_001288294.1:p.(Cys659Arg)	NC_000001.10:g.235972143A>G	(Likely) benign	1 lab	b52dbbe06a
19:45855775 ERCC2 A>G	19	45855775	45855775	A	G	ERCC2	c.2035T>C	NM_000400.3	NP_000391.1:p.(Phe679Leu)	NC_000019.9:g.45855775A>G	(Likely) benign	1 lab	b52e69df21
1:60073568 FGGY G>A	1	60073568	60073568	G	A	FGGY	c.997G>A	NM_001113411.1	NP_001106882.1:p.(Val333Ile)	NC_000001.10:g.60073568G>A	(Likely) benign	1 lab	b52fddb902
12:88523601 CEP290 T>C	12	88523601	88523601	T	C	CEP290	c.722A>G	NM_025114.3	NP_079390.3:p.(Lys241Arg)	NC_000012.11:g.88523601T>C	VUS	1 lab	b52ff3853b
1:28206353 THEMIS2 G>T	1	28206353	28206353	G	T	THEMIS2	c.434G>T	NM_001105556.3	NP_001099026.1:p.(Arg145Leu)	NC_000001.10:g.28206353G>T	VUS	1 lab	b53053fd41
X:12728571 FRMPD4 G>T	X	12728571	12728571	G	T	FRMPD4	c.1524G>T	NM_014728.3	NP_055543.2:p.(Thr508=)	NC_000023.10:g.12728571G>T	(Likely) benign	1 lab	b530d1813f
11:47726274 AGBL2 T>A	11	47726274	47726274	T	A	AGBL2	c.407A>T	NM_024783.4	NP_079059.2:p.(His136Leu)	NC_000011.9:g.47726274T>A	(Likely) benign	1 lab	b532cca127
19:50169179 BCL2L12 C>G	19	50169179	50169179	C	G	BCL2L12	c.99C>G	NM_138639.1	NP_619580.1:p.(Pro33=)	NC_000019.9:g.50169179C>G	(Likely) benign	1 lab	b5330c48e9
X:63445205 ASB12 G>A	X	63445205	63445205	G	A	ASB12	c.326C>T	NM_130388.3	NP_569059.3:p.(Pro109Leu)	NC_000023.10:g.63445205G>A	VUS	1 lab	b533b8cacf
10:96084168 PLCE1 G>A	10	96084168	96084168	G	A	PLCE1	c.6564G>A	NM_016341.3	NP_057425.3:p.(Val2188=)	NC_000010.10:g.96084168G>A	(Likely) benign	1 lab	b536d716b8
X:108691360 GUCY2F G>A	X	108691360	108691360	G	A	GUCY2F	c.1507C>T	NM_001522.2	NP_001513.2:p.(Pro503Ser)	NC_000023.10:g.108691360G>A	(Likely) benign	1 lab	b53704ceec
18:7013831 LAMA1 C>T	18	7013831	7013831	C	T	LAMA1	c.3346G>A	NM_005559.3	NP_005550.2:p.(Gly1116Arg)	NC_000018.9:g.7013831C>T	VUS	1 lab	b53732c5bd
20:25457438 NINL G>A	20	25457438	25457438	G	A	NINL	c.2489C>T	NM_025176.6	NP_079452.3:p.(Pro830Leu)	NC_000020.10:g.25457438G>A	(Likely) benign	1 lab	b538f2ff74
X:40552007 MED14 A>G	X	40552007	40552007	A	G	MED14	c.1798T>C	NM_004229.3	NP_004220.2:p.(Phe600Leu)	NC_000023.10:g.40552007A>G	(Likely) benign	1 lab	b5390a4646
X:138811117 ATP11C G>A	X	138811117	138811117	G	A	ATP11C	c.*8C>T	NM_173694.4	NP_775965.2:p.?	NC_000023.10:g.138811117G>A	(Likely) benign	1 lab	b539c2553f
16:68729288 CDH3 G>C	16	68729288	68729288	G	C	CDH3	c.2133G>C	NM_001317195.1	NP_001304124.1:p.(Gln711His)	NC_000016.9:g.68729288G>C	VUS	1 lab	b53a430cfa
6:162394367 PRKN C>T	6	162394367	162394367	C	T	PRKN	c.701G>A	NM_004562.2	NP_004553.2:p.(Arg234Gln)	NC_000006.11:g.162394367C>T	VUS	1 lab	b53a9e0c86
4:88536882 DSPP ATAG>A	4	88536882	88536885	ATAG	A	DSPP	c.3069_3071del	NM_014208.3	NP_055023.2:p.(Ser1025del)	NC_000004.11:g.88536883_88536885del	(Likely) benign	1 lab	b53aa79216
X:8138192 VCX2 G>A	X	8138192	8138192	G	A	VCX2	c.301C>T	NM_016378.3	NP_057462.2:p.(His101Tyr)	NC_000023.10:g.8138192G>A	(Likely) benign	1 lab	b53ae8242e
5:150885271 FAT2 A>AGGC	5	150885271	150885275	A	AGGC	FAT2	c.12902_12904dup	NM_001447.2	NP_001438.1:p.(Arg4301dup)	NC_000005.9:g.150885273_150885275dup	VUS	1 lab	b53c73a0ef
15:83328588 AP3B2 G>T	15	83328588	83328588	G	T	AP3B2	c.3155+9C>A	NM_001278512.1	NP_001265441.1:p.?	NC_000015.9:g.83328588G>T	(Likely) benign	1 lab	b53d4a2f76
12:32873724 DNM1L A>G	12	32873724	32873724	A	G	DNM1L	c.906A>G	NM_001278464.1	NP_001265393.1:p.(Leu302=)	NC_000012.11:g.32873724A>G	(Likely) benign	1 lab	b53d9e776d
10:103990481 PITX3 C>T	10	103990481	103990481	C	T	PITX3	c.699G>A	NM_005029.3	NP_005020.1:p.(Gly233=)	NC_000010.10:g.103990481C>T	(Likely) benign	1 lab	b53e3ce076
13:110861649 COL4A1 G>C	13	110861649	110861649	G	C	COL4A1	c.651+90C>G	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110861649G>C	(Likely) benign	1 lab	b5415766f7
15:34016368 RYR3 T>C	15	34016368	34016368	T	C	RYR3	c.6903T>C	NM_001036.4	NP_001027.3:p.(Pro2301=)	NC_000015.9:g.34016368T>C	(Likely) benign	1 lab	b5470fc6e3
17:78156474 CARD14 G>T	17	78156474	78156474	G	T	CARD14	c.234G>T	NM_024110.4	NP_077015.2:p.(Lys78Asn)	NC_000017.10:g.78156474G>T	VUS	1 lab	b548cf6c37
20:36572604 VSTM2L A>G	20	36572604	36572604	A	G	VSTM2L	c.564A>G	NM_080607.3	NP_542174.1:p.(Pro188=)	NC_000020.10:g.36572604A>G	(Likely) benign	1 lab	b54cce167d
6:112510431 LAMA4 C>A	6	112510431	112510431	C	A	LAMA4	c.719-24G>T	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112510431C>A	(Likely) benign	1 lab	b54d3021b7
X:34962250 FAM47B T>C	X	34962250	34962250	T	C	FAM47B	c.1302T>C	NM_152631.2	NP_689844.2:p.(His434=)	NC_000023.10:g.34962250T>C	(Likely) benign	1 lab	b54d552a30
4:102015015 PPP3CA C>A	4	102015015	102015015	C	A	PPP3CA	c.700G>T	NM_000944.5	NP_000935.1:p.(Asp234Tyr)	NC_000004.11:g.102015015C>A	(Likely) pathogenic	1 lab	b54d773fb8
16:72821321 ZFHX3 C>G	16	72821321	72821321	C	G	ZFHX3	c.10854G>C	NM_006885.3	NP_008816.3:p.(Pro3618=)	NC_000016.9:g.72821321C>G	(Likely) benign	1 lab	b54f2b28b4
2:169853137 ABCB11 C>A	2	169853137	169853137	C	A	ABCB11	c.477+8G>T	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169853137C>A	(Likely) benign	1 lab	b552a6478e
11:134062751 NCAPD3 C>A	11	134062751	134062751	C	A	NCAPD3	c.1878G>T	NM_015261.2	NP_056076.1:p.(Pro626=)	NC_000011.9:g.134062751C>A	(Likely) benign	1 lab	b5549e6fbe
X:10093080 WWC3 G>A	X	10093080	10093080	G	A	WWC3	c.1843G>A	NM_015691.3	NP_056506.2:p.(Glu615Lys)	NC_000023.10:g.10093080G>A	(Likely) benign	1 lab	b5551e9d7b
X:128696382 OCRL G>T	X	128696382	128696382	G	T	OCRL	c.961G>T	NM_000276.3	NP_000267.2:p.(Gly321Trp)	NC_000023.10:g.128696382G>T	VUS	1 lab	b5575b7a99
10:73501505 CDH23 G>A	10	73501505	73501505	G	A	CDH23	c.4672G>A	NM_022124.5	NP_071407.4:p.(Gly1558Arg)	NC_000010.10:g.73501505G>A	VUS	1 lab	b55904987c
17:41246046 BRCA1 T>A	17	41246046	41246046	T	A	BRCA1	c.1502A>T	NM_007294.3	NP_009225.1:p.(Lys501Ile)	NC_000017.10:g.41246046T>A	VUS	1 lab	b55a278d86
15:48052012 SEMA6D T>C	15	48052012	48052012	T	C	SEMA6D	c.17T>C	NM_153618.1	NP_705871.1:p.(Leu6Pro)	NC_000015.9:g.48052012T>C	VUS	1 lab	b55c1ea85c
15:48818397 FBN1 G>A	15	48818397	48818397	G	A	FBN1	c.918C>T	NM_000138.4	NP_000129.3:p.(Asn306=)	NC_000015.9:g.48818397G>A	(Likely) benign	1 lab	b55c8ee704
12:56088073 ITGA7 C>T	12	56088073	56088073	C	T	ITGA7	c.2411G>A	NM_001144996.1	NP_001138468.1:p.(Arg804His)	NC_000012.11:g.56088073C>T	(Likely) benign	1 lab	b55d220eb5
X:77912644 RTL3 G>A	X	77912644	77912644	G	A	RTL3	c.1274C>T	NM_152694.2	NP_689907.1:p.(Ala425Val)	NC_000023.10:g.77912644G>A	VUS	1 lab	b55e122cfd
8:90965590 NBN A>G	8	90965590	90965590	A	G	NBN	c.1727T>C	NM_002485.4	NP_002476.2:p.(Ile576Thr)	NC_000008.10:g.90965590A>G	(Likely) benign	1 lab	b56040ba71
19:45204770 CEACAM16 G>A	19	45204770	45204770	G	A	CEACAM16	c.37+7G>A	NM_001039213.4	NP_001034302.2:p.?	NC_000019.9:g.45204770G>A	(Likely) benign	1 lab	b5619721e2
1:94520881 ABCA4 G>C	1	94520881	94520881	G	C	ABCA4	c.2383-10C>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94520881G>C	(Likely) benign	1 lab	b563d8a60a
21:47775519 PCNT A>C	21	47775519	47775519	A	C	PCNT	c.1914A>C	NM_006031.5	NP_006022.3:p.(Glu638Asp)	NC_000021.8:g.47775519A>C	(Likely) benign	1 lab	b564f9ccd5
7:2584692 BRAT1 T>A	7	2584692	2584692	T	A	BRAT1	c.283-2A>T	NM_001350626.1	NP_001337555.1:p.?	NC_000007.13:g.2584692T>A	VUS	1 lab	da88e34cbb
X:7243507 STS C>A	X	7243507	7243507	C	A	STS	c.1245C>A	NM_001320750.1	NP_001307679.1:p.(Ala415=)	NC_000023.10:g.7243507C>A	(Likely) benign	1 lab	b565ab4d0f
22:38120503 TRIOBP G>A	22	38120503	38120503	G	A	TRIOBP	c.1940G>A	NM_001039141.2	NP_001034230.1:p.(Ser647Asn)	NC_000022.10:g.38120503G>A	(Likely) benign	1 lab	b5660ac356
1:236890992 ACTN2 T>G	1	236890992	236890992	T	G	ACTN2	c.551T>G	NM_001103.3	NP_001094.1:p.(Leu184Arg)	NC_000001.10:g.236890992T>G	VUS	1 lab	b5671228a1
11:2906264 CDKN1C C>T	11	2906264	2906264	C	T	CDKN1C	c.456G>A	NM_000076.2	NP_000067.1:p.(Pro152=)	NC_000011.9:g.2906264C>T	(Likely) benign	1 lab	b567a35aca
X:99919784 SRPX2 C>T	X	99919784	99919784	C	T	SRPX2	c.369C>T	NM_014467.2	NP_055282.1:p.(His123=)	NC_000023.10:g.99919784C>T	(Likely) benign	1 lab	b5693fa15f
1:183072751 LAMC1 A>G	1	183072751	183072751	A	G	LAMC1	c.707A>G	NM_002293.3	NP_002284.3:p.(Asn236Ser)	NC_000001.10:g.183072751A>G	VUS	1 lab	b56c81d9e0
2:238449186 MLPH T>A	2	238449186	238449186	T	A	MLPH	c.1290+10T>A	NM_024101.5	NP_077006.1:p.?	NC_000002.11:g.238449186T>A	(Likely) benign	1 lab	b56d2c2b20
X:64749624 LAS1L T>C	X	64749624	64749624	T	C	LAS1L	c.649A>G	NM_031206.4	NP_112483.1:p.(Ile217Val)	NC_000023.10:g.64749624T>C	(Likely) benign	1 lab	b56ec8746d
2:220286247 DES C>T	2	220286247	220286247	C	T	DES	c.1209C>T	NM_001927.3	NP_001918.3:p.(Ala403=)	NC_000002.11:g.220286247C>T	(Likely) benign	1 lab	b56fa1792c
6:133782296 EYA4 T>A	6	133782296	133782296	T	A	EYA4	c.415T>A	NM_004100.4	NP_004091.3:p.(Ser139Thr)	NC_000006.11:g.133782296T>A	VUS	1 lab	b56fdd0024
5:131728291 SLC22A5 C>T	5	131728291	131728291	C	T	SLC22A5	c.1506C>T	NM_001308122.1	NP_001295051.1:p.(Pro502=)	NC_000005.9:g.131728291C>T	(Likely) benign	1 lab	b57001f73e
4:62863922 ADGRL3 T>C	4	62863922	62863922	T	C	ADGRL3	c.3334T>C	NM_001322402.1	NP_001309331.1:p.(Tyr1112His)	NC_000004.11:g.62863922T>C	VUS	1 lab	b571e819bb
9:140000751 MAN1B1 G>A	9	140000751	140000751	G	A	MAN1B1	c.1429G>A	NM_016219.4	NP_057303.2:p.(Gly477Arg)	NC_000009.11:g.140000751G>A	(Likely) benign	1 lab	b572cd3ab5
4:2826347 SH3BP2 C>T	4	2826347	2826347	C	T	SH3BP2	c.247C>T	NM_003023.4	NP_003014.3:p.(Arg83Trp)	NC_000004.11:g.2826347C>T	VUS	1 lab	b57395eff9
8:61767054 CHD7 G>C	8	61767054	61767054	G	C	CHD7				NC_000008.10:g.61767054G>C	VUS	1 lab	b574e0ad7b
18:67855344 RTTN C>G	18	67855344	67855344	C	G	RTTN	c.1305G>C	NM_173630.3	NP_775901.3:p.(Met435Ile)	NC_000018.9:g.67855344C>G	VUS	1 lab	b575207155
14:92353625 FBLN5 G>A	14	92353625	92353625	G	A	FBLN5	c.651C>T	NM_006329.3	NP_006320.2:p.(Cys217=)	NC_000014.8:g.92353625G>A	(Likely) benign	1 lab	b5758c5449
X:49020157 MAGIX G>T	X	49020157	49020157	G	T	MAGIX	c.86G>T	NM_024859.3	NP_079135.3:p.(Arg29Leu)	NC_000023.10:g.49020157G>T	(Likely) benign	1 lab	b5799efe2d
2:179499940 TTN GTC>G	2	179499940	179499943	GTC	G	TTN	c.41974_41975del	NM_001267550.2	NP_001254479.2:p.(Asp13992HisfsTer19)	NC_000002.11:g.179499942_179499943del	(Likely) pathogenic	1 lab	b57b572629
6:157528077 ARID1B C>T	6	157528077	157528077	C	T	ARID1B	c.5802C>T	NM_020732.3	NP_065783.3:p.(Ile1934=)	NC_000006.11:g.157528077C>T	(Likely) benign	1 lab	b57c316154
3:15686976 BTD G>A	3	15686976	15686976	G	A	BTD	c.1613G>A	NM_000060.4	NP_000051.1:p.(Arg538His)	NC_000003.11:g.15686976G>A	VUS	1 lab	b580259c76
2:141274578 LRP1B G>T	2	141274578	141274578	G	T	LRP1B	c.8029C>A	NM_018557.2	NP_061027.2:p.(Gln2677Lys)	NC_000002.11:g.141274578G>T	(Likely) benign	1 lab	b580290410
X:122758436 THOC2 C>G	X	122758436	122758436	C	G	THOC2	c.3142G>C	NM_001081550.1	NP_001075019.1:p.(Glu1048Gln)	NC_000023.10:g.122758436C>G	VUS	1 lab	b580370f95
15:62259630 VPS13C G>A	15	62259630	62259630	G	A	VPS13C	c.2928C>T	NM_001018088.2	NP_001018098.1:p.(Pro976=)	NC_000015.9:g.62259630G>A	(Likely) benign	1 lab	b580c0cd68
6:129663525 LAMA2 G>A	6	129663525	129663525	G	A	LAMA2	c.4349G>A	NM_000426.3	NP_000417.2:p.(Arg1450Gln)	NC_000006.11:g.129663525G>A	(Likely) benign	1 lab	b580fd560d
8:113277668 CSMD3 T>C	8	113277668	113277668	T	C	CSMD3	c.9660A>G	NM_198123.2	NP_937756.1:p.(Thr3220=)	NC_000008.10:g.113277668T>C	(Likely) benign	1 lab	b583dd4b1c
12:52979779 KRT72 T>C	12	52979779	52979779	T	C	KRT72	c.1523A>G	NM_080747.2	NP_542785.1:p.(Lys508Arg)	NC_000012.11:g.52979779T>C	(Likely) benign	1 lab	b583fd4cc9
8:124449479 NTAQ1 A>G	8	124449479	124449479	A	G	NTAQ1	c.209A>G	NM_001283027.1	NP_001269956.1:p.(Tyr70Cys)	NC_000008.10:g.124449479A>G	VUS	1 lab	b587d15244
20:25281502 ABHD12 C>T	20	25281502	25281502	C	T	ABHD12	c.1176G>A	NM_001042472.3	NP_001035937.1:p.(Ser392=)	NC_000020.10:g.25281502C>T	(Likely) benign	1 lab	b58978bb6d
12:52680592 KRT81 A>G	12	52680592	52680592	A	G	KRT81	c.1262T>C	NM_002281.3	NP_002272.2:p.(Ile421Thr)	NC_000012.11:g.52680592A>G	(Likely) benign	1 lab	b589791dc9
12:49579627 TUBA1A C>T	12	49579627	49579627	C	T	TUBA1A	c.522G>A	NM_001270399.1	NP_001257328.1:p.(Ala174=)	NC_000012.11:g.49579627C>T	(Likely) benign	1 lab	b589c2261e
12:49426533 KMT2D C>T	12	49426533	49426533	C	T	KMT2D	c.11955G>A	NM_003482.3	NP_003473.3:p.(Leu3985=)	NC_000012.11:g.49426533C>T	(Likely) benign	1 lab	b58b2e65b2
5:78322372 DMGDH C>A	5	78322372	78322372	C	A	DMGDH	c.2065G>T	NM_013391.3	NP_037523.2:p.(Glu689Ter)	NC_000005.9:g.78322372C>A	VUS	1 lab	b58b8a5c8a
X:138678719 MCF2 G>A	X	138678719	138678719	G	A	MCF2	c.2494C>T	NM_001171876.1	NP_001165347.1:p.(His832Tyr)	NC_000023.10:g.138678719G>A	VUS	1 lab	b58bfaceeb
X:10096071 WWC3 A>T	X	10096071	10096071	A	T	WWC3	c.2150A>T	NM_015691.3	NP_056506.2:p.(Glu717Val)	NC_000023.10:g.10096071A>T	VUS	1 lab	b58c1b8e5a
6:74351431 SLC17A5 GT>G	6	74351431	74351432	GT	G	SLC17A5	c.507del	NM_012434.5	NP_036566.1:p.(Leu170Ter)	NC_000006.11:g.74351432del	(Likely) pathogenic	1 lab	b58dab2843
18:44102192 LOXHD1 C>G	18	44102192	44102192	C	G	LOXHD1	c.4957G>C	NM_144612.6	NP_653213.6:p.(Gly1653Arg)	NC_000018.9:g.44102192C>G	VUS	1 lab	b58f2c913b
17:29546137 NF1 G>A	17	29546137	29546137	G	A	NF1	c.1641+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29546137G>A	(Likely) pathogenic	1 lab	b58fff9224
9:97087571 NUTM2F C>T	9	97087571	97087571	C	T	NUTM2F	c.662G>A	NM_017561.1	NP_060031.1:p.(Arg221Gln)	NC_000009.11:g.97087571C>T	(Likely) benign	1 lab	b5916be761
4:42895438 GRXCR1 T>C	4	42895438	42895438	T	C	GRXCR1	c.155T>C	NM_001080476.2	NP_001073945.1:p.(Ile52Thr)	NC_000004.11:g.42895438T>C	VUS	1 lab	b591d0a2a1
X:135308129 MAP7D3 C>T	X	135308129	135308129	C	T	MAP7D3	c.1973G>A	NM_001173517.1	NP_001166988.1:p.(Arg658His)	NC_000023.10:g.135308129C>T	(Likely) benign	1 lab	b592e08cb7
19:38597262 SIPA1L3 C>T	19	38597262	38597262	C	T	SIPA1L3	c.2115C>T	NM_015073.2	NP_055888.1:p.(Thr705=)	NC_000019.9:g.38597262C>T	(Likely) benign	1 lab	b595d9ab13
10:64974703 JMJD1C T>G	10	64974703	64974703	T	G	JMJD1C	c.1224A>C	NM_032776.2	NP_116165.1:p.(Lys408Asn)	NC_000010.10:g.64974703T>G	VUS	1 lab	b596cd4c9c
9:2718822 KCNV2 A>G	9	2718822	2718822	A	G	KCNV2	c.1083A>G	NM_133497.3	NP_598004.1:p.(Gln361=)	NC_000009.11:g.2718822A>G	(Likely) benign	1 lab	b598d4770e
19:17743618 UNC13A A>G	19	17743618	17743618	A	G	UNC13A	c.3401T>C	NM_001080421.2	NP_001073890.2:p.(Phe1134Ser)	NC_000019.9:g.17743618A>G	VUS	1 lab	b599643fcc
11:6416777 APBB1 G>T	11	6416777	6416777	G	T	APBB1	c.2114C>A	NM_145689.2	NP_663722.1:p.(Ala705Asp)	NC_000011.9:g.6416777G>T	VUS	1 lab	b59a1712dc
3:10107089 FANCD2 C>T	3	10107089	10107089	C	T	FANCD2	c.2180C>T	NM_033084.3	NP_149075.2:p.(Pro727Leu)	NC_000003.11:g.10107089C>T	VUS	1 lab	b59a7de7c6
11:6630109 ILK C>T	11	6630109	6630109	C	T	ILK	c.449-6C>T	NM_004517.2	NP_004508.1:p.?	NC_000011.9:g.6630109C>T	(Likely) benign	1 lab	b59bef27c6
16:2817728 SRRM2 C>T	16	2817728	2817728	C	T	SRRM2	c.7199C>T	NM_016333.4	NP_057417.3:p.(Pro2400Leu)	NC_000016.9:g.2817728C>T	(Likely) benign	1 lab	b5a9253f9d
10:64974535 JMJD1C C>T	10	64974535	64974535	C	T	JMJD1C	c.1392G>A	NM_032776.2	NP_116165.1:p.(Ser464=)	NC_000010.10:g.64974535C>T	(Likely) benign	1 lab	b59f14cc9f
1:183091040 LAMC1 G>A	1	183091040	183091040	G	A	LAMC1	c.2173G>A	NM_002293.3	NP_002284.3:p.(Ala725Thr)	NC_000001.10:g.183091040G>A	(Likely) benign	1 lab	b59f3c12a9
6:152557984 SYNE1 C>A	6	152557984	152557984	C	A	SYNE1	c.20167G>T	NM_182961.3	NP_892006.3:p.(Asp6723Tyr)	NC_000006.11:g.152557984C>A	VUS	1 lab	b5a15f5fa8
X:153997593 DKC1 C>T	X	153997593	153997593	C	T	DKC1	c.915+8C>T	NM_001288747.1	NP_001275676.1:p.?	NC_000023.10:g.153997593C>T	(Likely) benign	1 lab	b5a4109d31
X:64949406 MSN G>A	X	64949406	64949406	G	A	MSN	c.299G>A	NM_002444.2	NP_002435.1:p.(Arg100His)	NC_000023.10:g.64949406G>A	VUS	1 lab	b5a472b83b
17:78188426 SGSH G>C	17	78188426	78188426	G	C	SGSH	c.494C>G	NM_001352921.1	NP_001339850.1:p.(Thr165Ser)	NC_000017.10:g.78188426G>C	(Likely) benign	1 lab	b5a5246b78
5:129015540 ADAMTS19 G>A	5	129015540	129015540	G	A	ADAMTS19	c.2590G>A	NM_133638.4	NP_598377.4:p.(Val864Ile)	NC_000005.9:g.129015540G>A	VUS	1 lab	b5a60a38c3
19:3977456 EEF2 G>A	19	3977456	3977456	G	A	EEF2	c.2220C>T	NM_001961.3	NP_001952.1:p.(Leu740=)	NC_000019.9:g.3977456G>A	(Likely) benign	1 lab	b5a60ae088
12:2024064 CACNA2D4 A>T	12	2024064	2024064	A	T	CACNA2D4	c.265T>A	NM_172364.4	NP_758952.4:p.(Tyr89Asn)	NC_000012.11:g.2024064A>T	VUS	1 lab	b5a74ec649
19:6714354 C3 C>T	19	6714354	6714354	C	T	C3	c.599+9G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6714354C>T	(Likely) benign	1 lab	b5a7752153
X:99917332 SRPX2 G>A	X	99917332	99917332	G	A	SRPX2	c.323G>A	NM_014467.2	NP_055282.1:p.(Ser108Asn)	NC_000023.10:g.99917332G>A	(Likely) benign	1 lab	b5a85c47ae
2:234094484 INPP5D A>G	2	234094484	234094484	A	G	INPP5D	c.2276-5A>G	NM_001017915.3	NP_001017915.1:p.?	NC_000002.11:g.234094484A>G	(Likely) benign	1 lab	b5a930f6c2
1:7792636 CAMTA1 G>A	1	7792636	7792636	G	A	CAMTA1	c.3043G>A	NM_015215.3	NP_056030.1:p.(Gly1015Arg)	NC_000001.10:g.7792636G>A	VUS	1 lab	b5a9c22044
16:20441116 ACSM5 C>A	16	20441116	20441116	C	A	ACSM5	c.1118C>A	NM_017888.3	NP_060358.2:p.(Ser373Tyr)	NC_000016.9:g.20441116C>A	VUS	1 lab	b5ab2354ee
20:18505229 SEC23B G>A	20	18505229	18505229	G	A	SEC23B	c.519G>A	NM_032985.5	NP_116780.1:p.(Val173=)	NC_000020.10:g.18505229G>A	(Likely) benign	1 lab	b5ae3f218e
11:78383209 TENM4 A>T	11	78383209	78383209	A	T	TENM4	c.5662T>A	NM_001098816.2	NP_001092286.2:p.(Ser1888Thr)	NC_000011.9:g.78383209A>T	VUS	1 lab	b5b20b2b79
2:220078836 ABCB6 T>A	2	220078836	220078836	T	A	ABCB6	c.1452+7A>T	NM_005689.2	NP_005680.1:p.?	NC_000002.11:g.220078836T>A	(Likely) benign	1 lab	b5b45a83e9
17:29592257 NF1 C>CA	17	29592257	29592258	C	CA	NF1	c.4673dup	NM_000267.3	NP_000258.1:p.(His1558GlnfsTer2)	NC_000017.10:g.29592258dup	(Likely) pathogenic	1 lab	b5bab8fa23
X:70347965 MED12 C>T	X	70347965	70347965	C	T	MED12	c.3204C>T	NM_005120.2	NP_005111.2:p.(Pro1068=)	NC_000023.10:g.70347965C>T	(Likely) benign	1 lab	b5bc45412c
12:80752021 OTOGL A>G	12	80752021	80752021	A	G	OTOGL	c.5993-7A>G	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80752021A>G	(Likely) benign	1 lab	b5bd2108d3
7:5353247 TNRC18 T>C	7	5353247	5353247	T	C	TNRC18	c.7275A>G	NM_001080495.2	NP_001073964.2:p.(Ala2425=)	NC_000007.13:g.5353247T>C	(Likely) benign	1 lab	b5c047e215
4:94436567 GRID2 T>C	4	94436567	94436567	T	C	GRID2	c.2193+5T>C	NM_001510.3	NP_001501.2:p.?	NC_000004.11:g.94436567T>C	(Likely) benign	1 lab	b5c098fbdc
11:1267447 MUC5B GCCA>G	11	1267447	1267454	GCCA	G	MUC5B	c.9342_9344del	NM_002458.3	NP_002449.2:p.(Thr3116del)	NC_000011.9:g.1267452_1267454del	VUS	1 lab	b5c3f2cbcd
11:118373191 KMT2A C>A	11	118373191	118373191	C	A	KMT2A	c.6584C>A	NM_001197104.1	NP_001184033.1:p.(Ser2195Tyr)	NC_000011.9:g.118373191C>A	VUS	1 lab	b5c452c5b4
11:66476377 SPTBN2 T>G	11	66476377	66476377	T	G	SPTBN2	c.1187A>C	NM_006946.3	NP_008877.1:p.(Asn396Thr)	NC_000011.9:g.66476377T>G	VUS	1 lab	b5c4fa668b
21:46911188 COL18A1 C>G	21	46911188	46911188	C	G	COL18A1	c.2117C>G	NM_130445.2	NP_569712.2:p.(Pro706Arg)	NC_000021.8:g.46911188C>G	(Likely) benign	1 lab	b5c6215f85
X:46719429 RP2 G>A	X	46719429	46719429	G	A	RP2	c.775G>A	NM_006915.2	NP_008846.2:p.(Gly259Ser)	NC_000023.10:g.46719429G>A	(Likely) benign	1 lab	b5c8909a65
16:89345814 ANKRD11 G>C	16	89345814	89345814	G	C	ANKRD11	c.7136C>G	NM_001256182.1	NP_001243111.1:p.(Ala2379Gly)	NC_000016.9:g.89345814G>C	(Likely) benign	1 lab	b5c8f41957
7:151478262 PRKAG2 T>C	7	151478262	151478262	T	C	PRKAG2	c.442A>G	NM_016203.3	NP_057287.2:p.(Arg148Gly)	NC_000007.13:g.151478262T>C	(Likely) benign	1 lab	b5c9be7a9b
8:94821062 TMEM67 T>C	8	94821062	94821062	T	C	TMEM67	c.2440-6T>C	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94821062T>C	(Likely) benign	1 lab	b5cf55c438
17:29654712 NF1 C>T	17	29654712	29654712	C	T	NF1	c.5401C>T	NM_000267.3	NP_000258.1:p.(Gln1801Ter)	NC_000017.10:g.29654712C>T	(Likely) pathogenic	1 lab	b5cfe030dc
16:15809060 MYH11 C>T	16	15809060	15809060	C	T	MYH11	c.5595G>A	NM_001040113.1	NP_001035202.1:p.(Val1865=)	NC_000016.9:g.15809060C>T	VUS	1 lab	b5d05ac702
7:42004394 GLI3 T>A	7	42004394	42004394	T	A	GLI3	c.4277A>T	NM_000168.5	NP_000159.3:p.(Lys1426Ile)	NC_000007.13:g.42004394T>A	(Likely) benign	1 lab	b5d0664117
Y:14898164 USP9Y CTGTT>C	Y	14898164	14898174	CTGTT	C	USP9Y	c.3186_3189del	NM_004654.4	NP_004645.2:p.(Cys1062TrpfsTer30)	NC_000024.9:g.14898171_14898174del	VUS	1 lab	b5d0e578e2
17:29562948 NF1 A>G	17	29562948	29562948	A	G	NF1	c.3883A>G	NM_000267.3	NP_000258.1:p.(Thr1295Ala)	NC_000017.10:g.29562948A>G	(Likely) benign	1 lab	b5d208cdd0
12:69991799 CCT2 C>T	12	69991799	69991799	C	T	CCT2	c.1142C>T	NM_001198842.1	NP_001185771.1:p.(Thr381Ile)	NC_000012.11:g.69991799C>T	(Likely) benign	1 lab	b5d23f36ff
16:89349508 ANKRD11 C>T	16	89349508	89349508	C	T	ANKRD11	c.3442G>A	NM_001256182.1	NP_001243111.1:p.(Gly1148Ser)	NC_000016.9:g.89349508C>T	(Likely) benign	1 lab	b5d3224dab
7:75583461 POR AAAG>A	7	75583461	75583470	AAAG	A	POR	c.158_160del	NM_000941.3	NP_000932.3:p.(Glu53del)	NC_000007.13:g.75583468_75583470del	VUS	1 lab	b5d376d39f
1:211654555 RD3 C>T	1	211654555	211654555	C	T	RD3	c.203G>A	NM_183059.2	NP_898882.1:p.(Arg68Gln)	NC_000001.10:g.211654555C>T	VUS	1 lab	b5d3948e54
X:49127219 PPP1R3F C>G	X	49127219	49127219	C	G	PPP1R3F	c.887C>G	NM_033215.4	NP_149992.3:p.(Ala296Gly)	NC_000023.10:g.49127219C>G	(Likely) benign	1 lab	b5d82e37bc
14:21769359 RPGRIP1 C>T	14	21769359	21769359	C	T	RPGRIP1	c.453C>T	NM_020366.3	NP_065099.3:p.(His151=)	NC_000014.8:g.21769359C>T	(Likely) benign	1 lab	b5d83521a0
5:82816226 VCAN G>A	5	82816226	82816226	G	A	VCAN	c.2101G>A	NM_004385.4	NP_004376.2:p.(Asp701Asn)	NC_000005.9:g.82816226G>A	VUS	1 lab	b5da361945
4:187522436 FAT1 T>C	4	187522436	187522436	T	C	FAT1	c.11627A>G	NM_005245.3	NP_005236.2:p.(Tyr3876Cys)	NC_000004.11:g.187522436T>C	VUS	1 lab	b5dc08df97
7:110763039 LRRN3 A>G	7	110763039	110763039	A	G	LRRN3	c.211A>G	NM_001099660.1	NP_001093130.1:p.(Thr71Ala)	NC_000007.13:g.110763039A>G	VUS	1 lab	b5dcc8924b
8:21983193 HR T>C	8	21983193	21983193	T	C	HR	c.1458A>G	NM_005144.4	NP_005135.2:p.(Pro486=)	NC_000008.10:g.21983193T>C	(Likely) benign	1 lab	b5dd98939e
18:32400833 DTNA A>G	18	32400833	32400833	A	G	DTNA	c.1A>G	NM_001198942.1	NP_001185871.1:p.(Met1?)	NC_000018.9:g.32400833A>G	VUS	1 lab	b5de4b527f
6:152676022 SYNE1 CTGT>C	6	152676022	152676025	CTGT	C	SYNE1	c.10695_10697del	NM_182961.4	NP_892006.3:p.(Gln3566del)	NC_000006.11:g.152676023_152676025del	VUS	1 lab	b5de7843d2
17:29676145 NF1 G>GC	17	29676145	29676146	G	GC	NF1	c.7135dup	NM_000267.3	NP_000258.1:p.(His2379ProfsTer22)	NC_000017.10:g.29676146dup	(Likely) pathogenic	1 lab	b5e09fc347
15:64005075 HERC1 C>T	15	64005075	64005075	C	T	HERC1	c.4483G>A	NM_003922.3	NP_003913.3:p.(Glu1495Lys)	NC_000015.9:g.64005075C>T	VUS	1 lab	b5e0f0bdc8
14:91700712 GPR68 C>T	14	91700712	91700712	C	T	GPR68	c.683G>A	NM_001177676.2	NP_001171147.1:p.(Arg228Gln)	NC_000014.8:g.91700712C>T	(Likely) benign	1 lab	b5e3dbee07
14:37153975 SLC25A21 T>A	14	37153975	37153975	T	A	SLC25A21	c.759A>T	NM_030631.3	NP_085134.1:p.(Thr253=)	NC_000014.8:g.37153975T>A	(Likely) benign	1 lab	b5e511f9fd
17:40344715 GHDC C>T	17	40344715	40344715	C	T	GHDC	c.433G>A	NM_001142623.1	NP_001136095.1:p.(Val145Met)	NC_000017.10:g.40344715C>T	VUS	1 lab	b5e85f51c9
5:150925268 FAT2 G>A	5	150925268	150925268	G	A	FAT2	c.5420C>T	NM_001447.2	NP_001438.1:p.(Pro1807Leu)	NC_000005.9:g.150925268G>A	VUS	1 lab	b5e87008d5
9:113496567 MUSK A>G	9	113496567	113496567	A	G	MUSK	c.665A>G	NM_005592.3	NP_005583.1:p.(Asn222Ser)	NC_000009.11:g.113496567A>G	VUS	1 lab	b5e9325992
17:6387538 PITPNM3 C>T	17	6387538	6387538	C	T	PITPNM3	c.349G>A	NM_031220.3	NP_112497.2:p.(Glu117Lys)	NC_000017.10:g.6387538C>T	(Likely) benign	1 lab	b5ec1d04f0
6:56327887 DST C>T	6	56327887	56327887	C	T	DST	c.16598G>A	NM_001144769.2	NP_001138241.1:p.(Cys5533Tyr)	NC_000006.11:g.56327887C>T	(Likely) benign	1 lab	b5ed3e8061
3:49136666 QARS1 T>C	3	49136666	49136666	T	C	QARS1	c.1635A>G	NM_005051.2	NP_005042.1:p.(Gln545=)	NC_000003.11:g.49136666T>C	(Likely) benign	1 lab	b5edf7583c
11:57428578 CLP1 C>T	11	57428578	57428578	C	T	CLP1	c.948C>T	NM_006831.2	NP_006822.1:p.(Ala316=)	NC_000011.9:g.57428578C>T	(Likely) benign	1 lab	b5ef20e1ae
12:124914222 NCOR2 G>A	12	124914222	124914222	G	A	NCOR2	c.1086C>T	NM_006312.5	NP_006303.4:p.(Ser362=)	NC_000012.11:g.124914222G>A	(Likely) benign	1 lab	b5efe754fb
15:35085696 ACTC1 G>A	15	35085696	35085696	G	A	ACTC1	c.204C>T	NM_005159.4	NP_005150.1:p.(Thr68=)	NC_000015.9:g.35085696G>A	(Likely) benign	1 lab	b5f107bbe7
19:50919786 POLD1 G>A	19	50919786	50919786	G	A	POLD1	c.3031+1G>A	NM_001308632.1	NP_001295561.1:p.?	NC_000019.9:g.50919786G>A	VUS	1 lab	b5f142222f
11:111706990 ALG9 C>T	11	111706990	111706990	C	T	ALG9	c.1479G>A	NM_001077690.1	NP_001071158.1:p.(Glu493=)	NC_000011.9:g.111706990C>T	(Likely) benign	1 lab	b5f2463728
3:9965603 IL17RC G>A	3	9965603	9965603	G	A	IL17RC	c.874G>A	NM_153461.3	NP_703191.1:p.(Val292Met)	NC_000003.11:g.9965603G>A	VUS	1 lab	b5f38a61bb
6:32261441 TSBP1 G>A	6	32261441	32261441	G	A	TSBP1	c.1009C>T	NM_006781.4	NP_006772.3:p.(Gln337Ter)	NC_000006.11:g.32261441G>A	VUS	1 lab	b5f39b15ba
11:119212363 MFRP C>T	11	119212363	119212363	C	T	MFRP	c.1635G>A	NM_031433.3	NP_113621.1:p.(Ala545=)	NC_000011.9:g.119212363C>T	(Likely) benign	1 lab	b5f3b750a8
17:78083792 GAA G>A	17	78083792	78083792	G	A	GAA	c.1375G>A	NM_000152.3	NP_000143.2:p.(Asp459Asn)	NC_000017.10:g.78083792G>A	VUS	1 lab	b5f4182f17
18:6983187 LAMA1 C>T	18	6983187	6983187	C	T	LAMA1	c.5707G>A	NM_005559.3	NP_005550.2:p.(Ala1903Thr)	NC_000018.9:g.6983187C>T	(Likely) benign	1 lab	b5f4d8553a
X:99890243 TSPAN6 T>C	X	99890243	99890243	T	C	TSPAN6	c.19A>G	NM_001278740.1	NP_001265669.1:p.(Met7Val)	NC_000023.10:g.99890243T>C	(Likely) benign	1 lab	b5f62a4939
20:62324322 RTEL1 T>C	20	62324322	62324322	T	C	RTEL1	c.2817T>C	NM_001283009.1	NP_001269938.1:p.(Phe939=)	NC_000020.10:g.62324322T>C	(Likely) benign	1 lab	b5f71e9b4a
2:179449018 TTN C>G	2	179449018	179449018	C	G	TTN	c.65260G>C	NM_001267550.1	NP_001254479.1:p.(Ala21754Pro)	NC_000002.11:g.179449018C>G	VUS	1 lab	b5f97d1676
2:26712611 OTOF G>A	2	26712611	26712611	G	A	OTOF	c.898-3C>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26712611G>A	(Likely) benign	1 lab	b5f9bd3e75
6:54212234 TINAG T>C	6	54212234	54212234	T	C	TINAG	c.818T>C	NM_014464.4	NP_055279.3:p.(Leu273Ser)	NC_000006.11:g.54212234T>C	VUS	1 lab	b5fbc127ca
2:166859171 SCN1A G>A	2	166859171	166859171	G	A	SCN1A	c.4095C>T	NM_001165963.2	NP_001159435.1:p.(Gly1365=)	NC_000002.11:g.166859171G>A	(Likely) benign	1 lab	b5fc582e6d
2:15326909 NBAS AT>A	2	15326909	15326913	AT	A	NBAS	c.6667del	NM_015909.4	NP_056993.2:p.(Met2223CysfsTer17)	NC_000002.11:g.15326913del	(Likely) pathogenic	1 lab	b5fd3bbf06
6:43413555 ABCC10 C>T	6	43413555	43413555	C	T	ABCC10	c.3165C>T	NM_033450.2	NP_258261.2:p.(Arg1055=)	NC_000006.11:g.43413555C>T	(Likely) benign	1 lab	b5fd6c31fc
8:118831982 EXT1 A>AG	8	118831982	118831988	A	AG	EXT1	c.1468dup	NM_000127.2	NP_000118.2:p.(Leu490ProfsTer31)	NC_000008.10:g.118831988dup	(Likely) pathogenic	1 lab	b5feb39366
X:48457781 WDR13 A>G	X	48457781	48457781	A	G	WDR13	c.323A>G	NM_001347217.2	NP_001334146.1:p.(His108Arg)	NC_000023.10:g.48457781A>G	(Likely) benign	1 lab	b5ff5cfd84
16:2129197 TSC2 G>A	16	2129197	2129197	G	A	TSC2	c.3131G>A	NM_000548.3	NP_000539.2:p.(Arg1044Lys)	NC_000016.9:g.2129197G>A	(Likely) pathogenic	1 lab	b5ff818be7
X:34149654 FAM47A G>A	X	34149654	34149654	G	A	FAM47A	c.742C>T	NM_203408.3	NP_981953.2:p.(Arg248Cys)	NC_000023.10:g.34149654G>A	(Likely) benign	1 lab	b5ff9e449b
6:56437738 DST A>G	6	56437738	56437738	A	G	DST	c.7004T>C	NM_001144769.2	NP_001138241.1:p.(Leu2335Ser)	NC_000006.11:g.56437738A>G	VUS	1 lab	b60013817a
17:34893564 PIGW CTGTT>C	17	34893564	34893570	CTGTT	C	PIGW	c.617_620del	NM_001346754.2	NP_001333683.1:p.(Val206GlyfsTer3)	NC_000017.10:g.34893567_34893570del	VUS	1 lab	b6005ee7d4
19:13004433 GCDH C>T	19	13004433	13004433	C	T	GCDH	c.471C>T	NM_000159.3	NP_000150.1:p.(Ser157=)	NC_000019.9:g.13004433C>T	(Likely) benign	1 lab	b6032eb990
19:15303190 NOTCH3 C>T	19	15303190	15303190	C	T	NOTCH3	c.338G>A	NM_000435.2	NP_000426.2:p.(Arg113Gln)	NC_000019.9:g.15303190C>T	(Likely) benign	1 lab	b603ac0066
1:117142915 IGSF3 G>A	1	117142915	117142915	G	A	IGSF3	c.1737C>T	NM_001542.4	NP_001533.2:p.(Ser579=)	NC_000001.10:g.117142915G>A	(Likely) benign	1 lab	b604d618f6
8:145656508 TONSL G>C	8	145656508	145656508	G	C	TONSL	c.3762C>G	NM_013432.5	NP_038460.4:p.(Thr1254=)	NC_000008.10:g.145656508G>C	(Likely) benign	1 lab	b60859dea0
1:151338921 SELENBP1 C>T	1	151338921	151338921	C	T	SELENBP1	c.799G>A	NM_001258289.1	NP_001245218.1:p.(Gly267Arg)	NC_000001.10:g.151338921C>T	VUS	1 lab	b60925a52b
11:124756485 ROBO4 G>C	11	124756485	124756485	G	C	ROBO4	c.2669C>G	NM_019055.5	NP_061928.4:p.(Ala890Gly)	NC_000011.9:g.124756485G>C	VUS	1 lab	b609a698ad
10:115887383 CCDC186 T>C	10	115887383	115887383	T	C	CCDC186	c.2230A>G	NM_001321829.1	NP_001308758.1:p.(Thr744Ala)	NC_000010.10:g.115887383T>C	(Likely) benign	1 lab	b60a210db8
X:47486199 CFP T>C	X	47486199	47486199	T	C	CFP	c.913A>G	NM_002621.2	NP_002612.1:p.(Ile305Val)	NC_000023.10:g.47486199T>C	(Likely) benign	1 lab	b60c0ea020
16:88789701 PIEZO1 C>T	16	88789701	88789701	C	T	PIEZO1	c.4371G>A	NM_001142864.4	NP_001136336.2:p.(Ala1457=)	NC_000016.9:g.88789701C>T	(Likely) benign	1 lab	b60ec103b2
9:79320305 PRUNE2 G>A	9	79320305	79320305	G	A	PRUNE2	c.6885C>T	NM_015225.3	NP_056040.2:p.(Ser2295=)	NC_000009.11:g.79320305G>A	(Likely) benign	1 lab	b60efe83e2
17:29576000 NF1 A>G	17	29576000	29576000	A	G	NF1	c.3975-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576000A>G	(Likely) pathogenic	1 lab	b60f627026
20:57415737 GNAS G>A	20	57415737	57415737	G	A	GNAS	c.576G>A	NM_016592.3	NP_057676.1:p.(Glu192=)	NC_000020.10:g.57415737G>A	(Likely) benign	1 lab	b610fae99b
4:55593608 KIT G>A	4	55593608	55593608	G	A	KIT	c.1674G>A	NM_000222.2	NP_000213.1:p.(Lys558=)	NC_000004.11:g.55593608G>A	(Likely) benign	1 lab	b61111607c
X:48125755 SSX1 G>T	X	48125755	48125755	G	T	SSX1	c.500G>T	NM_001278691.1	NP_001265620.1:p.(Arg167Ile)	NC_000023.10:g.48125755G>T	VUS	1 lab	b611ebb6e6
3:123427730 MYLK G>C	3	123427730	123427730	G	C	MYLK	c.1955C>G	NM_053025.3	NP_444253.3:p.(Pro652Arg)	NC_000003.11:g.123427730G>C	VUS	1 lab	b6124115b5
7:48353866 ABCA13 G>C	7	48353866	48353866	G	C	ABCA13	c.9719G>C	NM_152701.4	NP_689914.3:p.(Gly3240Ala)	NC_000007.13:g.48353866G>C	VUS	1 lab	b61386c3cf
13:32906535 BRCA2 G>GT	13	32906535	32906540	G	GT	BRCA2	c.925dup	NM_000059.3	NP_000050.2:p.(Ser309PhefsTer6)	NC_000013.10:g.32906540dup	(Likely) pathogenic	1 lab	b614147794
12:2788706 CACNA1C A>G	12	2788706	2788706	A	G	CACNA1C	c.5332A>G	NM_199460.3	NP_955630.3:p.(Ile1778Val)	NC_000012.11:g.2788706A>G	VUS	1 lab	b614372ffb
22:51020672 CHKB C>T	22	51020672	51020672	C	T	CHKB	c.333+6G>A	NM_005198.4	NP_005189.2:p.?	NC_000022.10:g.51020672C>T	(Likely) benign	1 lab	b614b7e574
11:47354512 MYBPC3 C>T	11	47354512	47354512	C	T	MYBPC3	c.3343G>A	NM_000256.3	NP_000247.2:p.(Val1115Ile)	NC_000011.9:g.47354512C>T	VUS	1 lab	b61510fa14
1:225607502 LBR T>G	1	225607502	225607502	T	G	LBR				NC_000001.10:g.225607502T>G	(Likely) pathogenic	1 lab	37bdd977e8
11:45936235 PEX16 T>C	11	45936235	45936235	T	C	PEX16	c.461A>G	NM_057174.2	NP_476515.1:p.(Asp154Gly)	NC_000011.9:g.45936235T>C	VUS	1 lab	b61593eecf
10:64946152 JMJD1C T>C	10	64946152	64946152	T	C	JMJD1C	c.6571-9A>G	NM_032776.2	NP_116165.1:p.?	NC_000010.10:g.64946152T>C	(Likely) benign	1 lab	b6166fcdd5
2:179603856 TTN T>C	2	179603856	179603856	T	C	TTN	c.14092+12A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179603856T>C	(Likely) benign	1 lab	b617a2d8d8
16:1841033 IGFALS G>A	16	1841033	1841033	G	A	IGFALS	c.1386C>T	NM_004970.2	NP_004961.1:p.(Tyr462=)	NC_000016.9:g.1841033G>A	(Likely) benign	1 lab	b61b73cafd
7:137801373 AKR1D1 G>A	7	137801373	137801373	G	A	AKR1D1	c.946G>A	NM_005989.3	NP_005980.1:p.(Asp316Asn)	NC_000007.13:g.137801373G>A	VUS	1 lab	b61b8f0210
X:36366262 CFAP47 A>C	X	36366262	36366262	A	C	CFAP47	c.8462A>C	NM_001304548.1	NP_001291477.1:p.(Lys2821Thr)	NC_000023.10:g.36366262A>C	VUS	1 lab	b648521668
21:28217109 ADAMTS1 C>T	21	28217109	28217109	C	T	ADAMTS1	c.165G>A	NM_006988.5	NP_008919.3:p.(Glu55=)	NC_000021.8:g.28217109C>T	(Likely) benign	1 lab	b61dbfa91f
9:114994396 PTBP3 T>A	9	114994396	114994396	T	A	PTBP3	c.1105A>T	NM_001244898.1	NP_001231827.1:p.(Thr369Ser)	NC_000009.11:g.114994396T>A	(Likely) benign	1 lab	b61e88f03c
11:124739924 ROBO3 G>C	11	124739924	124739924	G	C	ROBO3	c.726G>C	NM_022370.3	NP_071765.2:p.(Ala242=)	NC_000011.9:g.124739924G>C	(Likely) benign	1 lab	b6229ef5d5
11:133789938 MISSING G>C	11	133789938	133789938	G	C	MISSING				NC_000011.9:g.133789938G>C	VUS	1 lab	b6265ea5a8
11:124738921 ROBO3 C>A	11	124738921	124738921	C	A	ROBO3	c.384C>A	NM_022370.3	NP_071765.2:p.(Ile128=)	NC_000011.9:g.124738921C>A	VUS	1 lab	b6271a5757
5:68716020 MARVELD2 A>C	5	68716020	68716020	A	C	MARVELD2	c.808A>C	NM_001038603.2	NP_001033692.2:p.(Ile270Leu)	NC_000005.9:g.68716020A>C	(Likely) benign	1 lab	b6272a885d
X:70830552 GCNA G>A	X	70830552	70830552	G	A	GCNA	c.1633G>A	NM_052957.4	NP_443189.1:p.(Gly545Ser)	NC_000023.10:g.70830552G>A	(Likely) benign	1 lab	b627a85fc7
2:74300734 TET3 G>A	2	74300734	74300734	G	A	TET3	c.2553G>A	NM_001287491.2	NP_001274420.1:p.(Thr851=)	NC_000002.11:g.74300734G>A	(Likely) benign	1 lab	b627ae9f8a
X:132161459 USP26 A>G	X	132161459	132161459	A	G	USP26	c.790T>C	NM_031907.1	NP_114113.1:p.(Leu264=)	NC_000023.10:g.132161459A>G	(Likely) benign	1 lab	b62b45c3d0
X:108911465 ACSL4 T>C	X	108911465	108911465	T	C	ACSL4	c.1303A>G	NM_022977.2	NP_075266.1:p.(Asn435Asp)	NC_000023.10:g.108911465T>C	(Likely) benign	1 lab	b62b783769
X:37027601 FAM47C C>T	X	37027601	37027601	C	T	FAM47C	c.1118C>T	NM_001013736.2	NP_001013758.1:p.(Ala373Val)	NC_000023.10:g.37027601C>T	VUS	1 lab	b62f6fbe17
14:105423793 AHNAK2 G>A	14	105423793	105423793	G	A	AHNAK2	c.167C>T	NM_138420.3	NP_612429.2:p.(Ser56Leu)	NC_000014.8:g.105423793G>A	VUS	1 lab	b62fd4cb23
16:23647518 PALB2 G>T	16	23647518	23647518	G	T	PALB2	c.349C>A	NM_024675.4	NP_078951.2:p.(Pro117Thr)	NC_000016.9:g.23647518G>T	VUS	1 lab	0016a52593
X:15549486 BMX C>G	X	15549486	15549486	C	G	BMX	c.975C>G	NM_203281.2	NP_975010.1:p.(Ser325Arg)	NC_000023.10:g.15549486C>G	(Likely) benign	1 lab	b632b6494f
1:200529925 KIF14 C>T	1	200529925	200529925	C	T	KIF14	c.4155G>A	NM_014875.2	NP_055690.1:p.(Val1385=)	NC_000001.10:g.200529925C>T	(Likely) benign	1 lab	b632faad58
X:66931444 AR G>A	X	66931444	66931444	G	A	AR	c.2086G>A	NM_000044.4	NP_000035.2:p.(Asp696Asn)	NC_000023.10:g.66931444G>A	(Likely) pathogenic	1 lab	b6335ea94c
3:147108822 ZIC4 C>A	3	147108822	147108822	C	A	ZIC4	c.1050G>T	NM_001168378.1	NP_001161850.1:p.(Ser350=)	NC_000003.11:g.147108822C>A	(Likely) benign	1 lab	b63453a724
3:63973789 ATXN7 G>T	3	63973789	63973789	G	T	ATXN7	c.1150G>T	NM_000333.3	NP_000324.1:p.(Val384Leu)	NC_000003.11:g.63973789G>T	VUS	1 lab	b6370605a9
9:133329718 ASS1 C>T	9	133329718	133329718	C	T	ASS1	c.132C>T	NM_000050.4	NP_000041.2:p.(Phe44=)	NC_000009.11:g.133329718C>T	(Likely) benign	1 lab	b638595b36
X:49083125 CACNA1F C>T	X	49083125	49083125	C	T	CACNA1F	c.1349G>A	NM_005183.3	NP_005174.2:p.(Arg450His)	NC_000023.10:g.49083125C>T	VUS	1 lab	b639330e60
19:45206632 CEACAM16 T>C	19	45206632	45206632	T	C	CEACAM16	c.51T>C	NM_001039213.4	NP_001034302.2:p.(Asn17=)	NC_000019.9:g.45206632T>C	(Likely) benign	1 lab	b63af1935b
3:195489766 MUC4 G>A	3	195489766	195489766	G	A	MUC4	c.14304C>T	NM_018406.6	NP_060876.5:p.(Asn4768=)	NC_000003.11:g.195489766G>A	(Likely) benign	1 lab	b63de6bffc
16:701966 WDR90 C>A	16	701966	701966	C	A	WDR90	c.980C>A	NM_145294.5	NP_660337.3:p.(Thr327Lys)	NC_000016.9:g.701966C>A	(Likely) benign	1 lab	b63e551c16
2:48027887 MSH6 G>A	2	48027887	48027887	G	A	MSH6	c.2765G>A	NM_000179.2	NP_000170.1:p.(Arg922Gln)	NC_000002.11:g.48027887G>A	(Likely) benign	1 lab	b63f4ce982
17:29657461 NF1 G>A	17	29657461	29657461	G	A	NF1	c.5694G>A	NM_000267.3	NP_000258.1:p.(Glu1898=)	NC_000017.10:g.29657461G>A	(Likely) benign	1 lab	b642e1da35
2:45170194 SIX3 A>G	2	45170194	45170194	A	G	SIX3	c.806+145A>G	NM_005413.3	NP_005404.1:p.?	NC_000002.11:g.45170194A>G	(Likely) benign	1 lab	b6433d6a90
11:74952354 TPBGL A>G	11	74952354	74952354	A	G	TPBGL	c.260A>G	NM_001195528.1	NP_001182457.1:p.(Gln87Arg)	NC_000011.9:g.74952354A>G	(Likely) benign	1 lab	b6457302f7
6:170871176 TBP G>A	6	170871176	170871176	G	A	TBP	c.352G>A	NM_003194.4	NP_003185.1:p.(Ala118Thr)	NC_000006.11:g.170871176G>A	(Likely) benign	1 lab	b6458088ce
4:126239882 FAT4 A>G	4	126239882	126239882	A	G	FAT4	c.2316A>G	NM_001291303.1	NP_001278232.1:p.(Gln772=)	NC_000004.11:g.126239882A>G	(Likely) benign	1 lab	b646d4ac97
19:36214850 KMT2B G>A	19	36214850	36214850	G	A	KMT2B	c.3276G>A	NM_014727.2	NP_055542.1:p.(Ser1092=)	NC_000019.9:g.36214850G>A	(Likely) benign	1 lab	b64b612d77
3:148903017 CP G>A	3	148903017	148903017	G	A	CP	c.2285+9C>T	NM_000096.3	NP_000087.1:p.?	NC_000003.11:g.148903017G>A	(Likely) benign	1 lab	b64c2dae9a
18:44184124 LOXHD1 G>A	18	44184124	44184124	G	A	LOXHD1	c.828C>T	NM_144612.6	NP_653213.6:p.(Asp276=)	NC_000018.9:g.44184124G>A	(Likely) benign	1 lab	b64cd7a5e3
6:72975746 RIMS1 G>A	6	72975746	72975746	G	A	RIMS1	c.3392G>A	NM_014989.5	NP_055804.2:p.(Arg1131Gln)	NC_000006.11:g.72975746G>A	VUS	1 lab	b64d59fa5c
2:26702477 OTOF G>A	2	26702477	26702477	G	A	OTOF	c.1957C>T	NM_194248.2	NP_919224.1:p.(Pro653Ser)	NC_000002.11:g.26702477G>A	(Likely) benign	1 lab	b64d62d7be
1:5947504 NPHP4 G>C	1	5947504	5947504	G	C	NPHP4	c.2327C>G	NM_015102.4	NP_055917.1:p.(Pro776Arg)	NC_000001.10:g.5947504G>C	VUS	1 lab	b64e43a389
20:39832231 ZHX3 A>G	20	39832231	39832231	A	G	ZHX3	c.1326T>C	NM_015035.3	NP_055850.1:p.(Pro442=)	NC_000020.10:g.39832231A>G	(Likely) benign	1 lab	b650cbccec
9:129870196 ANGPTL2 G>A	9	129870196	129870196	G	A	ANGPTL2	c.815C>T	NM_012098.3	NP_036230.1:p.(Ser272Leu)	NC_000009.11:g.129870196G>A	VUS	1 lab	b6537f0b72
6:152532733 SYNE1 A>T	6	152532733	152532733	A	T	SYNE1	c.22495-10T>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152532733A>T	(Likely) benign	1 lab	b6542367f9
20:401600 RBCK1 A>G	20	401600	401600	A	G	RBCK1	c.716A>G	NM_006462.5	NP_006453.1:p.(Glu239Gly)	NC_000020.10:g.401600A>G	VUS	1 lab	b6a4ae4a8f
9:117822211 TNC G>A	9	117822211	117822211	G	A	TNC	c.4104C>T	NM_002160.3	NP_002151.2:p.(Thr1368=)	NC_000009.11:g.117822211G>A	(Likely) benign	1 lab	b65433bd0e
16:79633003 MAF A>C	16	79633003	79633003	A	C	MAF	c.797T>G	NM_001031804.2	NP_001026974.1:p.(Leu266Arg)	NC_000016.9:g.79633003A>C	VUS	1 lab	b6544bbccd
15:66995680 SMAD6 CGGCGGCGGT>C	15	66995680	66995696	CGGCGGCGGT	C	SMAD6	c.92_100del	NM_005585.5	NP_005576.3:p.(Gly31_Gly33del)	NC_000015.9:g.66995688_66995696del	VUS	1 lab	b654a3365f
11:77921629 USP35 ACCT>A	11	77921629	77921635	ACCT	A	USP35	c.2732_2734del	NM_020798.4	NP_065849.1:p.(Ser911del)	NC_000011.9:g.77921633_77921635del	VUS	1 lab	b654a96a77
8:95841185 INTS8 C>G	8	95841185	95841185	C	G	INTS8	c.519-18C>G	NM_017864.3	NP_060334.2:p.?	NC_000008.10:g.95841185C>G	(Likely) benign	1 lab	b6564686ac
2:234229306 SAG A>C	2	234229306	234229306	A	C	SAG	c.212A>C	NM_000541.4	NP_000532.2:p.(Tyr71Ser)	NC_000002.11:g.234229306A>C	VUS	1 lab	b658a3dec1
11:44297150 ALX4 C>T	11	44297150	44297150	C	T	ALX4	c.525G>A	NM_021926.4	NP_068745.2:p.(Met175Ile)	NC_000011.9:g.44297150C>T	VUS	1 lab	b65aeb348e
1:152282662 FLG C>T	1	152282662	152282662	C	T	FLG	c.4700G>A	NM_002016.1	NP_002007.1:p.(Arg1567Gln)	NC_000001.10:g.152282662C>T	VUS	1 lab	b65e6a0bbc
22:21067061 PI4KA C>T	22	21067061	21067061	C	T	PI4KA	c.5596G>A	NM_058004.3	NP_477352.3:p.(Asp1866Asn)	NC_000022.10:g.21067061C>T	(Likely) benign	1 lab	b65f55a41a
9:133901812 LAMC3 G>A	9	133901812	133901812	G	A	LAMC3	c.514G>A	NM_006059.3	NP_006050.3:p.(Gly172Ser)	NC_000009.11:g.133901812G>A	VUS	1 lab	b65fb0841c
1:39827169 MACF1 C>T	1	39827169	39827169	C	T	MACF1	c.6405C>T	NM_012090.5	NP_036222.3:p.(Phe2135=)	NC_000001.10:g.39827169C>T	(Likely) benign	1 lab	b66416c505
X:63488646 MTMR8 C>T	X	63488646	63488646	C	T	MTMR8	c.1886G>A	NM_017677.3	NP_060147.2:p.(Gly629Asp)	NC_000023.10:g.63488646C>T	VUS	1 lab	b6647e7a69
11:101981783 YAP1 C>G	11	101981783	101981783	C	G	YAP1	c.204C>G	NM_001282101.1	NP_001269030.1:p.(Leu68=)	NC_000011.9:g.101981783C>G	(Likely) benign	1 lab	b664c78b4d
X:92964485 FAM133A A>G	X	92964485	92964485	A	G	FAM133A	c.67A>G	NM_001171110.1	NP_001164581.1:p.(Thr23Ala)	NC_000023.10:g.92964485A>G	(Likely) benign	1 lab	b6660a49da
2:1843126 MYT1L A>T	2	1843126	1843126	A	T	MYT1L	c.2875T>A	NM_001329851.1	NP_001316780.1:p.(Cys959Ser)	NC_000002.11:g.1843126A>T	VUS	1 lab	b66660b0fb
10:112572328 RBM20 G>A	10	112572328	112572328	G	A	RBM20	c.2173G>A	NM_001134363.1	NP_001127835.1:p.(Glu725Lys)	NC_000010.10:g.112572328G>A	VUS	1 lab	b666a9cd56
17:41256895 BRCA1 T>C	17	41256895	41256895	T	C	BRCA1	c.291A>G	NM_007294.3	NP_009225.1:p.(Thr97=)	NC_000017.10:g.41256895T>C	(Likely) benign	1 lab	b66774a2f3
5:1266569 TERT C>T	5	1266569	1266569	C	T	TERT	c.2654+10G>A	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1266569C>T	(Likely) benign	1 lab	b66789b764
5:37227770 CPLANE1 C>T	5	37227770	37227770	C	T	CPLANE1	c.1271G>A	NM_023073.3	NP_075561.3:p.(Arg424Gln)	NC_000005.9:g.37227770C>T	VUS	1 lab	b6679442bf
1:43408938 SLC2A1 G>A	1	43408938	43408938	G	A	SLC2A1	c.73C>T	NM_006516.3	NP_006507.2:p.(Gln25Ter)	NC_000001.10:g.43408938G>A	(Likely) pathogenic	1 lab	b6691957de
15:43022806 CDAN1 G>A	15	43022806	43022806	G	A	CDAN1	c.2164C>T	NM_138477.4	NP_612486.2:p.(Arg722Cys)	NC_000015.9:g.43022806G>A	VUS	1 lab	b669bb0151
18:43523146 EPG5 G>A	18	43523146	43523146	G	A	EPG5	c.1924C>T	NM_020964.3	NP_066015.2:p.(Arg642Ter)	NC_000018.9:g.43523146G>A	(Likely) pathogenic	1 lab	b66c70279d
15:43668362 TUBGCP4 G>A	15	43668362	43668362	G	A	TUBGCP4	c.145G>A	NM_001286414.2	NP_001273343.1:p.(Gly49Ser)	NC_000015.9:g.43668362G>A	VUS	1 lab	b66d99602a
X:69665193 DLG3 A>G	X	69665193	69665193	A	G	DLG3	c.142A>G	NM_021120.3	NP_066943.2:p.(Ser48Gly)	NC_000023.10:g.69665193A>G	(Likely) benign	1 lab	b67467115d
2:179459243 TTN A>C	2	179459243	179459243	A	C	TTN	c.57978T>G	NM_001267550.1	NP_001254479.1:p.(Ile19326Met)	NC_000002.11:g.179459243A>C	VUS	1 lab	b6758c6b4a
12:50232682 BCDIN3D C>T	12	50232682	50232682	C	T	BCDIN3D	c.351G>A	NM_181708.2	NP_859059.1:p.(Lys117=)	NC_000012.11:g.50232682C>T	(Likely) benign	1 lab	b676e326b3
8:144942749 EPPK1 G>A	8	144942749	144942749	G	A	EPPK1				NC_000008.10:g.144942749G>A	(Likely) benign	1 lab	b6776812b4
1:227149164 COQ8A C>T	1	227149164	227149164	C	T	COQ8A	c.78C>T	NM_020247.4	NP_064632.2:p.(His26=)	NC_000001.10:g.227149164C>T	(Likely) benign	1 lab	b67b774a96
5:149275925 PDE6A T>C	5	149275925	149275925	T	C	PDE6A	c.1614A>G	NM_000440.2	NP_000431.2:p.(Pro538=)	NC_000005.9:g.149275925T>C	(Likely) benign	1 lab	b67e3d6c08
7:103474061 RELN G>A	7	103474061	103474061	G	A	RELN	c.396C>T	NM_005045.3	NP_005036.2:p.(His132=)	NC_000007.13:g.103474061G>A	(Likely) benign	1 lab	b67eb26d39
15:90171985 KIF7 T>C	15	90171985	90171985	T	C	KIF7	c.3697A>G	NM_198525.2	NP_940927.2:p.(Arg1233Gly)	NC_000015.9:g.90171985T>C	VUS	1 lab	b67f2d92d4
12:98909870 TMPO G>A	12	98909870	98909870	G	A	TMPO	c.225G>A	NM_003276.2	NP_003267.1:p.(Pro75=)	NC_000012.11:g.98909870G>A	(Likely) benign	1 lab	b67f45ee15
2:26699114 OTOF C>T	2	26699114	26699114	C	T	OTOF	c.2748G>A	NM_194248.2	NP_919224.1:p.(Leu916=)	NC_000002.11:g.26699114C>T	(Likely) benign	1 lab	b67ff640f9
6:31922557 NELFE G>A	6	31922557	31922557	G	A	NELFE	c.517C>T	NM_002904.6	NP_002895.3:p.(Arg173Cys)	NC_000006.11:g.31922557G>A	(Likely) benign	1 lab	b67ffe80be
12:14834420 GUCY2C G>A	12	14834420	14834420	G	A	GUCY2C	c.612-9C>T	NM_004963.3	NP_004954.2:p.?	NC_000012.11:g.14834420G>A	(Likely) benign	1 lab	b6802274c7
20:8696948 PLCB1 C>G	20	8696948	8696948	C	G	PLCB1	c.1288C>G	NM_182734.2	NP_877398.1:p.(Leu430Val)	NC_000020.10:g.8696948C>G	(Likely) benign	1 lab	b6810aefc2
1:39853456 MACF1 G>A	1	39853456	39853456	G	A	MACF1	c.8756G>A	NM_012090.5	NP_036222.3:p.(Arg2919Gln)	NC_000001.10:g.39853456G>A	VUS	1 lab	b681a3f09a
X:21887670 MBTPS2 C>T	X	21887670	21887670	C	T	MBTPS2	c.844C>T	NM_015884.3	NP_056968.1:p.(Leu282=)	NC_000023.10:g.21887670C>T	(Likely) benign	1 lab	b6858a6821
4:187630438 FAT1 C>T	4	187630438	187630438	C	T	FAT1	c.544G>A	NM_005245.3	NP_005236.2:p.(Gly182Arg)	NC_000004.11:g.187630438C>T	VUS	1 lab	b68682c588
16:2120492 TSC2 G>A	16	2120492	2120492	G	A	TSC2	c.1752G>A	NM_000548.3	NP_000539.2:p.(Thr584=)	NC_000016.9:g.2120492G>A	(Likely) benign	1 lab	b686e5d7e1
1:111663218 DRAM2 A>C	1	111663218	111663218	A	C	DRAM2	c.437T>G	NM_178454.5	NP_848549.3:p.(Met146Arg)	NC_000001.10:g.111663218A>C	VUS	1 lab	b6897cd75d
19:1043767 ABCA7 G>A	19	1043767	1043767	G	A	ABCA7	c.974G>A	NM_019112.3	NP_061985.2:p.(Arg325Gln)	NC_000019.9:g.1043767G>A	(Likely) benign	1 lab	b689a4e362
5:60817262 ZSWIM6 C>T	5	60817262	60817262	C	T	ZSWIM6	c.1506C>T	NM_020928.1	NP_065979.1:p.(Ala502=)	NC_000005.9:g.60817262C>T	(Likely) benign	1 lab	b68a981343
X:14882945 FANCB G>A	X	14882945	14882945	G	A	FANCB	c.688C>T	NM_001018113.1	NP_001018123.1:p.(Pro230Ser)	NC_000023.10:g.14882945G>A	VUS	1 lab	b68e04011d
22:25603023 CRYBB3 C>CTA	22	25603023	25603026	C	CTA	CRYBB3	c.482_483dup	NM_004076.4	NP_004067.1:p.(Glu162MetfsTer?)	NC_000022.10:g.25603025_25603026dup	(Likely) pathogenic	1 lab	b68e7836f8
18:53018154 TCF4 C>T	18	53018154	53018154	C	T	TCF4	c.450G>A	NM_001083962.1	NP_001077431.1:p.(Gln150=)	NC_000018.9:g.53018154C>T	(Likely) benign	1 lab	b68e8d110a
20:43280228 ADA G>A	20	43280228	43280228	G	A	ADA	c.21C>T	NM_000022.2	NP_000013.2:p.(Phe7=)	NC_000020.10:g.43280228G>A	(Likely) benign	1 lab	b692634339
9:117266681 WHRN C>T	9	117266681	117266681	C	T	WHRN	c.401G>A	NM_015404.3	NP_056219.3:p.(Gly134Glu)	NC_000009.11:g.117266681C>T	(Likely) benign	1 lab	b693147674
X:110576385 DCX T>C	X	110576385	110576385	T	C	DCX	c.706-4A>G	NM_178153.2	NP_835366.1:p.?	NC_000023.10:g.110576385T>C	(Likely) benign	1 lab	b695311db0
9:14868972 FREM1 T>A	9	14868972	14868972	T	A	FREM1	c.4A>T	NM_144966.5	NP_659403.4:p.(Asn2Tyr)	NC_000009.11:g.14868972T>A	(Likely) benign	1 lab	b695410437
3:38622412 SCN5A G>A	3	38622412	38622412	G	A	SCN5A	c.3228+10C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38622412G>A	(Likely) benign	1 lab	b69694c51b
8:48842530 PRKDC C>A	8	48842530	48842530	C	A	PRKDC	c.1935G>T	NM_006904.6	NP_008835.5:p.(Trp645Cys)	NC_000008.10:g.48842530C>A	VUS	1 lab	b696b51a66
3:164764670 SI T>C	3	164764670	164764670	T	C	SI	c.1846A>G	NM_001041.3	NP_001032.2:p.(Ile616Val)	NC_000003.11:g.164764670T>C	VUS	1 lab	b696d134c4
12:133319739 ANKLE2 C>G	12	133319739	133319739	C	G	ANKLE2	c.1353+1G>C	NM_015114.2	NP_055929.1:p.?	NC_000012.11:g.133319739C>G	(Likely) pathogenic	1 lab	b6998db601
X:152955933 SLC6A8 T>C	X	152955933	152955933	T	C	SLC6A8	c.366T>C	NM_005629.3	NP_005620.1:p.(Asn122=)	NC_000023.10:g.152955933T>C	(Likely) benign	1 lab	b69cac1422
16:85952330 IRF8 C>T	16	85952330	85952330	C	T	IRF8	c.909C>T	NM_002163.2	NP_002154.1:p.(Ala303=)	NC_000016.9:g.85952330C>T	(Likely) benign	1 lab	b69d3abae0
11:94209474 MRE11 A>G	11	94209474	94209474	A	G	MRE11	c.640T>C	NM_001330347.1	NP_001317276.1:p.(Phe214Leu)	NC_000011.9:g.94209474A>G	(Likely) benign	1 lab	b69e1e20b1
11:118960413 HMBS C>T	11	118960413	118960413	C	T	HMBS	c.287C>T	NM_000190.4	NP_000181.2:p.(Ser96Phe)	NC_000011.9:g.118960413C>T	(Likely) pathogenic	1 lab	b6a1c33cc0
X:68059843 EFNB1 GC>G	X	68059843	68059846	GC	G	EFNB1	c.543del	NM_004429.5	NP_004420.1:p.(Ser182AlafsTer31)	NC_000023.10:g.68059846del	(Likely) pathogenic	1 lab	b6a2feb942
19:4818049 TICAM1 C>T	19	4818049	4818049	C	T	TICAM1	c.341G>A	NM_182919.3	NP_891549.1:p.(Arg114Gln)	NC_000019.9:g.4818049C>T	VUS	1 lab	b6a3a43b40
19:45882962 PPP1R13L T>A	19	45882962	45882962	T	A	PPP1R13L	c.*486A>T	NM_006663.4	NP_006654.2:p.?	NC_000019.9:g.45882962T>A	(Likely) benign	1 lab	b6a7608eb6
4:126411132 FAT4 C>T	4	126411132	126411132	C	T	FAT4	c.13161C>T	NM_001291303.1	NP_001278232.1:p.(Ala4387=)	NC_000004.11:g.126411132C>T	(Likely) benign	1 lab	b6a7ee1bc6
15:48748916 FBN1 T>G	15	48748916	48748916	T	G	FBN1	c.5340A>C	NM_000138.4	NP_000129.3:p.(Gly1780=)	NC_000015.9:g.48748916T>G	(Likely) benign	1 lab	b6a8d0dc4e
14:95560269 DICER1 G>A	14	95560269	95560269	G	A	DICER1	c.5320C>T	NM_030621.4	NP_085124.2:p.(Gln1774Ter)	NC_000014.8:g.95560269G>A	(Likely) pathogenic	1 lab	b6a9ca5966
X:14883219 FANCB A>T	X	14883219	14883219	A	T	FANCB	c.414T>A	NM_001018113.1	NP_001018123.1:p.(Asn138Lys)	NC_000023.10:g.14883219A>T	(Likely) benign	1 lab	b6aa0da2ad
5:64181348 CWC27 A>G	5	64181348	64181348	A	G	CWC27	c.1017A>G	NM_005869.4	NP_005860.2:p.(Ala339=)	NC_000005.9:g.64181348A>G	(Likely) benign	1 lab	b6aa68f5bb
1:197071884 ASPM A>C	1	197071884	197071884	A	C	ASPM	c.6497T>G	NM_018136.4	NP_060606.3:p.(Ile2166Ser)	NC_000001.10:g.197071884A>C	(Likely) benign	1 lab	b6aa812bf8
3:195516237 MUC4 A>G	3	195516237	195516237	A	G	MUC4	c.2214T>C	NM_018406.6	NP_060876.5:p.(Leu738=)	NC_000003.11:g.195516237A>G	(Likely) benign	1 lab	b6ad9a849a
9:446441 DOCK8 T>A	9	446441	446441	T	A	DOCK8	c.5652T>A	NM_203447.3	NP_982272.2:p.(Phe1884Leu)	NC_000009.11:g.446441T>A	VUS	1 lab	b6addfad4c
22:17687995 ADA2 T>C	22	17687995	17687995	T	C	ADA2	c.508A>G	NM_001282225.2	NP_001269154.1:p.(Lys170Glu)	NC_000022.10:g.17687995T>C	(Likely) benign	1 lab	b6af065bf7
5:39383335 DAB2 T>G	5	39383335	39383335	T	G	DAB2	c.726A>C	NM_001343.3	NP_001334.2:p.(Glu242Asp)	NC_000005.9:g.39383335T>G	(Likely) benign	1 lab	b6b1101c59
15:78454100 IDH3A T>C	15	78454100	78454100	T	C	IDH3A	c.467T>C	NM_005530.3	NP_005521.1:p.(Ile156Thr)	NC_000015.9:g.78454100T>C	VUS	1 lab	b6b123b524
11:1263858 MUC5B G>A	11	1263858	1263858	G	A	MUC5B	c.5748G>A	NM_002458.2	NP_002449.2:p.(Thr1916=)	NC_000011.9:g.1263858G>A	(Likely) benign	1 lab	b6b5206d79
4:107163667 TBCK T>A	4	107163667	107163667	T	A	TBCK	c.614A>T	NM_001290768.1	NP_001277697.1:p.(Asp205Val)	NC_000004.11:g.107163667T>A	VUS	1 lab	b6b6756bf9
11:9595742 WEE1 G>A	11	9595742	9595742	G	A	WEE1	c.262G>A	NM_003390.4	NP_003381.1:p.(Glu88Lys)	NC_000011.9:g.9595742G>A	VUS	1 lab	b6b691868d
11:102587154 MMP8 GAAA>G	11	102587154	102587178	GAAA	G	MMP8	c.785-7_785-5del	NM_002424.3	NP_002415.1:p.?	NC_000011.9:g.102587176_102587178del	(Likely) benign	1 lab	b6b6cdd8ff
1:150526216 ADAMTSL4 G>A	1	150526216	150526216	G	A	ADAMTSL4	c.749G>A	NM_001288608.1	NP_001275537.1:p.(Arg250Gln)	NC_000001.10:g.150526216G>A	(Likely) benign	1 lab	b6bb25a1e3
6:129807663 LAMA2 T>C	6	129807663	129807663	T	C	LAMA2	c.7794T>C	NM_000426.3	NP_000417.2:p.(His2598=)	NC_000006.11:g.129807663T>C	(Likely) benign	1 lab	b6bca82483
6:143792756 PEX3 A>G	6	143792756	143792756	A	G	PEX3	c.578+8A>G	NM_003630.2	NP_003621.1:p.?	NC_000006.11:g.143792756A>G	(Likely) benign	1 lab	b6be9e07cb
1:152277108 FLG T>A	1	152277108	152277108	T	A	FLG	c.10254A>T	NM_002016.1	NP_002007.1:p.(Ala3418=)	NC_000001.10:g.152277108T>A	(Likely) benign	1 lab	b6c049dd5c
9:90535983 SPATA31C1 G>A	9	90535983	90535983	G	A	SPATA31C1	c.1161G>A	NM_001145124.1	NP_001138596.1:p.(Ala387=)	NC_000009.11:g.90535983G>A	(Likely) benign	1 lab	b6c1483265
16:16315629 ABCC6 C>T	16	16315629	16315629	C	T	ABCC6	c.96G>A	NM_001171.5	NP_001162.4:p.(Leu32=)	NC_000016.9:g.16315629C>T	(Likely) benign	1 lab	b6c4856276
9:71827458 TJP2 A>T	9	71827458	71827458	A	T	TJP2	c.61-6A>T	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71827458A>T	(Likely) benign	1 lab	b6c5be134a
14:105413195 AHNAK2 G>A	14	105413195	105413195	G	A	AHNAK2	c.8593C>T	NM_138420.3	NP_612429.2:p.(Pro2865Ser)	NC_000014.8:g.105413195G>A	(Likely) benign	1 lab	b6c730335f
16:24166139 PRKCB G>T	16	24166139	24166139	G	T	PRKCB	c.1200G>T	NM_002738.6	NP_002729.2:p.(Pro400=)	NC_000016.9:g.24166139G>T	(Likely) benign	1 lab	b6c883ef0a
X:154722140 TMLHE G>A	X	154722140	154722140	G	A	TMLHE	c.1012C>T	NM_018196.3	NP_060666.1:p.(Arg338Trp)	NC_000023.10:g.154722140G>A	VUS	1 lab	b6cae86ee3
5:74324743 GCNT4 A>G	5	74324743	74324743	A	G	GCNT4	c.1120T>C	NM_001366737.1	NP_001353666.1:p.(Tyr374His)	NC_000005.9:g.74324743A>G	(Likely) benign	1 lab	b6cbcd4d27
19:44015588 ETHE1 C>G	19	44015588	44015588	C	G	ETHE1	c.505+1G>C	NM_014297.4	NP_055112.2:p.?	NC_000019.9:g.44015588C>G	(Likely) pathogenic	1 lab	b6cdce1785
22:18613738 TUBA8 C>T	22	18613738	18613738	C	T	TUBA8	c.1185C>T	NM_018943.2	NP_061816.1:p.(Phe395=)	NC_000022.10:g.18613738C>T	(Likely) benign	1 lab	b6ce884a42
1:113460587 SLC16A1 G>A	1	113460587	113460587	G	A	SLC16A1	c.441C>T	NM_001166496.1	NP_001159968.1:p.(Asn147=)	NC_000001.10:g.113460587G>A	(Likely) benign	1 lab	b6ced19eeb
13:52516565 ATP7B C>T	13	52516565	52516565	C	T	ATP7B	c.3369G>A	NM_000053.3	NP_000044.2:p.(Pro1123=)	NC_000013.10:g.52516565C>T	(Likely) benign	1 lab	b6cfa9d14a
1:197398711 CRB1 G>A	1	197398711	197398711	G	A	CRB1	c.2737G>A	NM_001257965.1	NP_001244894.1:p.(Ala913Thr)	NC_000001.10:g.197398711G>A	VUS	1 lab	b6cfcf6985
X:619563 SHOX G>A	X	619563	619563	G	A	SHOX	c.677G>A	NM_006883.2	NP_006874.1:p.(Ter226=)	NC_000023.10:g.619563G>A	(Likely) benign	1 lab	b6d26a0172
9:12694063 TYRP1 C>A	9	12694063	12694063	C	A	TYRP1	c.67C>A	NM_000550.2	NP_000541.1:p.(Arg23=)	NC_000009.11:g.12694063C>A	(Likely) benign	1 lab	b6d27c446e
20:3210062 SLC4A11 G>A	20	3210062	3210062	G	A	SLC4A11	c.1908C>T	NM_001174090.1	NP_001167561.1:p.(Ser636=)	NC_000020.10:g.3210062G>A	(Likely) benign	1 lab	b6d2f361ce
X:77150985 MAGT1 G>A	X	77150985	77150985	G	A	MAGT1	c.19C>T	NM_032121.5	NP_115497.4:p.(Pro7Ser)	NC_000023.10:g.77150985G>A	(Likely) benign	1 lab	b6d357a6d3
4:6303939 WFS1 C>G	4	6303939	6303939	C	G	WFS1	c.2417C>G	NM_006005.3	NP_005996.2:p.(Ala806Gly)	NC_000004.11:g.6303939C>G	VUS	1 lab	dae60aad51
2:211456646 CPS1 G>T	2	211456646	211456646	G	T	CPS1	c.1039G>T	NM_001875.4	NP_001866.2:p.(Ala347Ser)	NC_000002.11:g.211456646G>T	(Likely) benign	1 lab	b6d40c0af7
7:117267807 CFTR A>G	7	117267807	117267807	A	G	CFTR	c.3700A>G	NM_000492.3	NP_000483.3:p.(Ile1234Val)	NC_000007.13:g.117267807A>G	(Likely) pathogenic	1 lab	b6d416b1db
10:94393461 KIF11 A>G	10	94393461	94393461	A	G	KIF11	c.1784A>G	NM_004523.3	NP_004514.2:p.(Asn595Ser)	NC_000010.10:g.94393461A>G	VUS	1 lab	b6d47d392e
2:26702193 OTOF C>T	2	26702193	26702193	C	T	OTOF				NC_000002.11:g.26702193C>T	(Likely) pathogenic	1 lab	38673e1650
21:44275814 WDR4 A>G	21	44275814	44275814	A	G	WDR4	c.266T>C	NM_001260477.1	NP_001247406.1:p.(Leu89Pro)	NC_000021.8:g.44275814A>G	(Likely) benign	1 lab	b6d48052ff
17:29528441 NF1 C>T	17	29528441	29528441	C	T	NF1	c.1198C>T	NM_000267.3	NP_000258.1:p.(Gln400Ter)	NC_000017.10:g.29528441C>T	(Likely) pathogenic	1 lab	b6d4ab81cd
18:2940603 LPIN2 G>A	18	2940603	2940603	G	A	LPIN2	c.698C>T	NM_014646.2	NP_055461.1:p.(Thr233Ile)	NC_000018.9:g.2940603G>A	(Likely) benign	1 lab	b6d4f86d64
9:123280877 CDK5RAP2 G>A	9	123280877	123280877	G	A	CDK5RAP2	c.1139C>T	NM_018249.5	NP_060719.4:p.(Ser380Leu)	NC_000009.11:g.123280877G>A	(Likely) benign	1 lab	b6d50a5eca
X:10098008 WWC3 G>A	X	10098008	10098008	G	A	WWC3	c.2445G>A	NM_015691.3	NP_056506.2:p.(Ala815=)	NC_000023.10:g.10098008G>A	(Likely) benign	1 lab	b6d5b321d1
1:183106829 LAMC1 C>T	1	183106829	183106829	C	T	LAMC1	c.4340C>T	NM_002293.3	NP_002284.3:p.(Ala1447Val)	NC_000001.10:g.183106829C>T	(Likely) benign	1 lab	b6d5f2c166
6:71011705 COL9A1 G>A	6	71011705	71011705	G	A	COL9A1	c.87C>T	NM_001851.4	NP_001842.3:p.(Pro29=)	NC_000006.11:g.71011705G>A	(Likely) benign	1 lab	b6d69b04fd
1:205027164 CNTN2 C>T	1	205027164	205027164	C	T	CNTN2	c.186C>T	NM_005076.4	NP_005067.1:p.(Arg62=)	NC_000001.10:g.205027164C>T	(Likely) benign	1 lab	b6d6eb656a
16:2135301 TSC2 T>G	16	2135301	2135301	T	G	TSC2	c.4640T>G	NM_000548.3	NP_000539.2:p.(Val1547Gly)	NC_000016.9:g.2135301T>G	(Likely) pathogenic	1 lab	b6d7b6b16f
10:73563143 CDH23 G>A	10	73563143	73563143	G	A	CDH23	c.7838G>A	NM_022124.5	NP_071407.4:p.(Arg2613His)	NC_000010.10:g.73563143G>A	VUS	1 lab	b6d7e14bf3
11:31531432 ELP4 C>T	11	31531432	31531432	C	T	ELP4	c.101C>T	NM_001288726.1	NP_001275655.1:p.(Pro34Leu)	NC_000011.9:g.31531432C>T	(Likely) benign	1 lab	b6d8126d28
X:63551542 MTMR8 G>C	X	63551542	63551542	G	C	MTMR8	c.1247C>G	NM_017677.3	NP_060147.2:p.(Ala416Gly)	NC_000023.10:g.63551542G>C	VUS	1 lab	b6d9795557
18:7024399 LAMA1 G>A	18	7024399	7024399	G	A	LAMA1	c.2469C>T	NM_005559.3	NP_005550.2:p.(Tyr823=)	NC_000018.9:g.7024399G>A	(Likely) benign	1 lab	b6da3287b8
X:49034388 PRICKLE3 G>A	X	49034388	49034388	G	A	PRICKLE3	c.909C>T	NM_006150.4	NP_006141.2:p.(Tyr303=)	NC_000023.10:g.49034388G>A	(Likely) benign	1 lab	b6dd8508a8
1:160011588 KCNJ10 G>C	1	160011588	160011588	G	C	KCNJ10	c.735C>G	NM_002241.4	NP_002232.2:p.(Asp245Glu)	NC_000001.10:g.160011588G>C	(Likely) benign	1 lab	b6deebd038
X:118971886 UPF3B C>T	X	118971886	118971886	C	T	UPF3B	c.1136G>A	NM_080632.2	NP_542199.1:p.(Arg379His)	NC_000023.10:g.118971886C>T	(Likely) benign	1 lab	b6e1560bb8
1:161023073 ARHGAP30 C>T	1	161023073	161023073	C	T	ARHGAP30	c.639G>A	NM_001025598.2	NP_001020769.1:p.(Gln213=)	NC_000001.10:g.161023073C>T	(Likely) benign	1 lab	b6e1dc2523
22:38111897 TRIOBP C>T	22	38111897	38111897	C	T	TRIOBP	c.584C>T	NM_001039141.2	NP_001034230.1:p.(Thr195Ile)	NC_000022.10:g.38111897C>T	(Likely) benign	1 lab	b6e26637f4
20:50408361 SALL4 GAC>G	20	50408361	50408366	GAC	G	SALL4	c.659_660del	NM_020436.5	NP_065169.1:p.(Cys220SerfsTer165)	NC_000020.10:g.50408365_50408366del	(Likely) pathogenic	1 lab	b6e43ae462
16:2112971 TSC2 A>G	16	2112971	2112971	A	G	TSC2	c.1362-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112971A>G	(Likely) pathogenic	1 lab	b6e459f39a
17:39021201 KRT12 G>A	17	39021201	39021201	G	A	KRT12	c.664C>T	NM_000223.4	NP_000214.1:p.(Leu222=)	NC_000017.10:g.39021201G>A	(Likely) benign	1 lab	b6e5324a17
X:32490402 DMD C>T	X	32490402	32490402	C	T	DMD	c.2459G>A	NM_004010.3	NP_004001.1:p.(Arg820His)	NC_000023.10:g.32490402C>T	(Likely) benign	1 lab	b6e55f89d5
21:45706566 AIRE CT>C	21	45706566	45706567	CT	C	AIRE	c.260del	NM_000383.4	NP_000374.1:p.(Leu87ArgfsTer60)	NC_000021.8:g.45706567del	(Likely) pathogenic	1 lab	b6e59ff91f
18:56202120 ALPK2 G>A	18	56202120	56202120	G	A	ALPK2	c.5299C>T	NM_052947.4	NP_443179.3:p.(His1767Tyr)	NC_000018.9:g.56202120G>A	(Likely) benign	1 lab	b6e5ee2348
19:13319691 CACNA1A G>GGGTGGT	19	13319691	13319693	G	GGGTGGT	CACNA1A	c.6676_6677insACCACC	NM_023035.2	NP_075461.2:p.(His2224_His2225dup)	NC_000019.9:g.13319692_13319693insGTGGTG	VUS	1 lab	b6e68b6f20
4:88535225 DSPP T>C	4	88535225	88535225	T	C	DSPP	c.1411T>C	NM_014208.3	NP_055023.2:p.(Ser471Pro)	NC_000004.11:g.88535225T>C	VUS	1 lab	b6e68fa3ab
X:100808103 ARMCX1 G>A	X	100808103	100808103	G	A	ARMCX1	c.190G>A	NM_016608.1	NP_057692.1:p.(Ala64Thr)	NC_000023.10:g.100808103G>A	(Likely) benign	1 lab	b6e74f2136
14:91806318 CCDC88C G>A	14	91806318	91806318	G	A	CCDC88C	c.534C>T	NM_001080414.3	NP_001073883.2:p.(Pro178=)	NC_000014.8:g.91806318G>A	(Likely) benign	1 lab	b6e7e0e170
3:49570068 DAG1 G>A	3	49570068	49570068	G	A	DAG1	c.2124G>A	NM_001165928.3	NP_001159400.2:p.(Thr708=)	NC_000003.11:g.49570068G>A	(Likely) benign	1 lab	b6ea1b30ed
2:235950356 SH3BP4 G>A	2	235950356	235950356	G	A	SH3BP4	c.943G>A	NM_014521.2	NP_055336.1:p.(Val315Met)	NC_000002.11:g.235950356G>A	VUS	1 lab	b6eab5ce47
15:55652389 CCPG1 A>C	15	55652389	55652389	A	C	CCPG1	c.1582T>G	NM_004748.4	NP_004739.3:p.(Ser528Ala)	NC_000015.9:g.55652389A>C	VUS	1 lab	b6ebeccaf8
6:170102664 C6orf120 G>A	6	170102664	170102664	G	A	C6orf120	c.109G>A	NM_001029863.2	NP_001025034.1:p.(Glu37Lys)	NC_000006.11:g.170102664G>A	(Likely) benign	1 lab	b6ec7adfe9
15:100657173 ADAMTS17 A>G	15	100657173	100657173	A	G	ADAMTS17	c.1767T>C	NM_139057.3	NP_620688.2:p.(His589=)	NC_000015.9:g.100657173A>G	(Likely) benign	1 lab	b6ee884e0e
6:80634731 ELOVL4 T>A	6	80634731	80634731	T	A	ELOVL4	c.307A>T	NM_022726.3	NP_073563.1:p.(Asn103Tyr)	NC_000006.11:g.80634731T>A	VUS	1 lab	b6ef4e3bc7
3:196288088 WDR53 A>G	3	196288088	196288088	A	G	WDR53	c.259T>C	NM_001345918.1	NP_001332847.1:p.(Leu87=)	NC_000003.11:g.196288088A>G	(Likely) benign	1 lab	b6f43b87aa
5:145246286 GRXCR2 T>C	5	145246286	145246286	T	C	GRXCR2	c.342A>G	NM_001080516.1	NP_001073985.1:p.(Leu114=)	NC_000005.9:g.145246286T>C	(Likely) benign	1 lab	b6f8083bd2
22:18561272 PEX26 C>T	22	18561272	18561272	C	T	PEX26	c.130C>T	NM_001127649.2	NP_001121121.1:p.(Leu44Phe)	NC_000022.10:g.18561272C>T	(Likely) benign	1 lab	b6fa095393
11:60637922 ZP1 A>C	11	60637922	60637922	A	C	ZP1	c.800A>C	NM_207341.3	NP_997224.2:p.(Glu267Ala)	NC_000011.9:g.60637922A>C	(Likely) benign	1 lab	b6fa977384
16:2546533 TBC1D24 C>T	16	2546533	2546533	C	T	TBC1D24	c.384C>T	NM_001199107.1	NP_001186036.1:p.(Ile128=)	NC_000016.9:g.2546533C>T	(Likely) benign	1 lab	b6faacf886
20:2639088 IDH3B C>T	20	2639088	2639088	C	T	IDH3B	c.1152G>A	NM_174855.3	NP_777280.1:p.(Ter384=)	NC_000020.10:g.2639088C>T	(Likely) benign	1 lab	b6fbdd360f
17:29554565 NF1 T>A	17	29554565	29554565	T	A	NF1	c.2350T>A	NM_000267.3	NP_000258.1:p.(Trp784Arg)	NC_000017.10:g.29554565T>A	(Likely) pathogenic	1 lab	b6fc1e1b23
22:37334382 CSF2RB C>T	22	37334382	37334382	C	T	CSF2RB	c.2532C>T	NM_000395.2	NP_000386.1:p.(Pro844=)	NC_000022.10:g.37334382C>T	(Likely) benign	1 lab	b6fd93129b
6:99912507 USP45 G>T	6	99912507	99912507	G	T	USP45	c.201C>A	NM_001346029.1	NP_001332958.1:p.(Ala67=)	NC_000006.11:g.99912507G>T	(Likely) benign	1 lab	b6fe2d20cf
1:161172234 NDUFS2 C>T	1	161172234	161172234	C	T	NDUFS2	c.59C>T	NM_001166159.1	NP_001159631.1:p.(Pro20Leu)	NC_000001.10:g.161172234C>T	(Likely) benign	1 lab	b6fe9f4e6c
8:12957926 DLC1 C>G	8	12957926	12957926	C	G	DLC1	c.1920G>C	NM_182643.2	NP_872584.2:p.(Leu640=)	NC_000008.10:g.12957926C>G	(Likely) benign	1 lab	b6ff5f8bc2
X:47918560 ZNF630 G>A	X	47918560	47918560	G	A	ZNF630	c.1271C>T	NM_001282201.1	NP_001269130.1:p.(Thr424Met)	NC_000023.10:g.47918560G>A	(Likely) benign	1 lab	b7014e4fa9
14:64905834 MTHFD1 T>G	14	64905834	64905834	T	G	MTHFD1	c.1618T>G	NM_005956.4	NP_005947.3:p.(Phe540Val)	NC_000014.8:g.64905834T>G	VUS	1 lab	b702b9ab98
9:123165209 CDK5RAP2 G>A	9	123165209	123165209	G	A	CDK5RAP2	c.5182C>T	NM_018249.5	NP_060719.4:p.(Leu1728=)	NC_000009.11:g.123165209G>A	(Likely) benign	1 lab	b70326db47
12:122252343 SETD1B T>A	12	122252343	122252343	T	A	SETD1B	c.2222T>A	NM_001353345.1	NP_001340274.1:p.(Ile741Asn)	NC_000012.11:g.122252343T>A	VUS	1 lab	b70460fe89
6:35423741 FANCE C>T	6	35423741	35423741	C	T	FANCE	c.466C>T	NM_021922.2	NP_068741.1:p.(Leu156=)	NC_000006.11:g.35423741C>T	(Likely) benign	1 lab	b706412601
11:1270947 MUC5B C>T	11	1270947	1270947	C	T	MUC5B	c.12837C>T	NM_002458.2	NP_002449.2:p.(Pro4279=)	NC_000011.9:g.1270947C>T	(Likely) benign	1 lab	b708781acf
13:77574751 CLN5 T>C	13	77574751	77574751	T	C	CLN5	c.871T>C	NM_006493.2	NP_006484.1:p.(Leu291=)	NC_000013.10:g.77574751T>C	(Likely) benign	1 lab	b708b33631
8:144943712 EPPK1 G>A	8	144943712	144943712	G	A	EPPK1				NC_000008.10:g.144943712G>A	VUS	1 lab	b708b367b8
1:247587432 NLRP3 G>T	1	247587432	247587432	G	T	NLRP3	c.681G>T	NM_001243133.1	NP_001230062.1:p.(Gly227=)	NC_000001.10:g.247587432G>T	VUS	1 lab	b7091474c3
X:140996214 MAGEC1 C>T	X	140996214	140996214	C	T	MAGEC1	c.3024C>T	NM_005462.4	NP_005453.2:p.(Phe1008=)	NC_000023.10:g.140996214C>T	(Likely) benign	1 lab	b70d8ff4d6
12:110600880 IFT81 G>A	12	110600880	110600880	G	A	IFT81	c.1188+10G>A	NM_014055.3	NP_054774.2:p.?	NC_000012.11:g.110600880G>A	(Likely) benign	1 lab	b70fabf47e
3:179138687 GNB4 G>A	3	179138687	179138687	G	A	GNB4	c.86C>T	NM_021629.3	NP_067642.1:p.(Thr29Met)	NC_000003.11:g.179138687G>A	VUS	1 lab	b70fd2fe07
14:23886827 MYH7 G>A	14	23886827	23886827	G	A	MYH7	c.4238C>T	NM_000257.2	NP_000248.2:p.(Ser1413Leu)	NC_000014.8:g.23886827G>A	VUS	1 lab	b710388461
16:21739665 OTOA C>T	16	21739665	21739665	C	T	OTOA	c.2120C>T	NM_144672.4	NP_653273.3:p.(Ala707Val)	NC_000016.9:g.21739665C>T	(Likely) benign	1 lab	b7124668b6
20:30904388 KIF3B A>G	20	30904388	30904388	A	G	KIF3B	c.1565A>G	NM_004798.4	NP_004789.1:p.(Glu522Gly)	NC_000020.10:g.30904388A>G	(Likely) benign	1 lab	b7128acf60
1:65305443 JAK1 G>A	1	65305443	65305443	G	A	JAK1	c.2685C>T	NM_001321853.1	NP_001308782.1:p.(Asp895=)	NC_000001.10:g.65305443G>A	(Likely) benign	1 lab	b7130acb50
1:152279291 FLG G>A	1	152279291	152279291	G	A	FLG	c.8071C>T	NM_002016.1	NP_002007.1:p.(Gln2691Ter)	NC_000001.10:g.152279291G>A	(Likely) pathogenic	1 lab	b715ca6767
12:58020754 B4GALNT1 G>A	12	58020754	58020754	G	A	B4GALNT1	c.1385-10C>T	NM_001478.4	NP_001469.1:p.?	NC_000012.11:g.58020754G>A	(Likely) benign	1 lab	b7161a95cb
2:29295293 PCARE A>G	2	29295293	29295293	A	G	PCARE	c.1835T>C	NM_001029883.2	NP_001025054.1:p.(Leu612Pro)	NC_000002.11:g.29295293A>G	VUS	1 lab	b716587383
7:4823978 AP5Z1 G>A	7	4823978	4823978	G	A	AP5Z1	c.766G>A	NM_014855.3	NP_055670.1:p.(Glu256Lys)	NC_000007.13:g.4823978G>A	(Likely) benign	1 lab	b7167ed16c
20:62196190 HELZ2 G>A	20	62196190	62196190	G	A	HELZ2	c.3985C>T	NM_001037335.2	NP_001032412.2:p.(Arg1329Trp)	NC_000020.10:g.62196190G>A	(Likely) benign	1 lab	b717cdffbd
X:153714228 UBL4A CCTT>C	X	153714228	153714236	CCTT	C	UBL4A	c.242_244del	NM_014235.5	NP_055050.1:p.(Glu81del)	NC_000023.10:g.153714234_153714236del	VUS	1 lab	b71857ed4c
17:29676104 NF1 CTTGTTTGT>C	17	29676104	29676130	CTTGTTTGT	C	NF1	c.7190-15_7190-8del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676123_29676130del	(Likely) benign	1 lab	b718cff447
X:77294463 ATP7A T>C	X	77294463	77294463	T	C	ATP7A	c.3641T>C	NM_000052.6	NP_000043.4:p.(Val1214Ala)	NC_000023.10:g.77294463T>C	(Likely) benign	1 lab	b719f81d2f
X:23722902 ACOT9 C>A	X	23722902	23722902	C	A	ACOT9	c.960G>T	NM_001330259.1	NP_001317188.1:p.(Leu320=)	NC_000023.10:g.23722902C>A	(Likely) benign	1 lab	b71b1ee699
2:44502682 SLC3A1 A>G	2	44502682	44502682	A	G	SLC3A1	c.8A>G	NM_000341.3	NP_000332.2:p.(Glu3Gly)	NC_000002.11:g.44502682A>G	(Likely) benign	1 lab	b71ba8bf56
3:14183204 TMEM43 A>G	3	14183204	14183204	A	G	TMEM43	c.1112A>G	NM_024334.2	NP_077310.1:p.(Tyr371Cys)	NC_000003.11:g.14183204A>G	VUS	1 lab	b71c27c6a9
19:42880102 MEGF8 G>A	19	42880102	42880102	G	A	MEGF8	c.7713G>A	NM_001271938.2	NP_001258867.1:p.(Pro2571=)	NC_000019.9:g.42880102G>A	(Likely) benign	1 lab	b71c54c0c5
X:49069181 CACNA1F G>A	X	49069181	49069181	G	A	CACNA1F	c.3921C>T	NM_005183.3	NP_005174.2:p.(Leu1307=)	NC_000023.10:g.49069181G>A	(Likely) benign	1 lab	b71cbe0513
9:39361017 SPATA31A1 C>A	9	39361017	39361017	C	A	SPATA31A1	c.3255C>A	NM_001085452.3	NP_001078921.3:p.(His1085Gln)	NC_000009.11:g.39361017C>A	(Likely) benign	1 lab	b71cdf6dc4
X:106840608 FRMPD3 G>A	X	106840608	106840608	G	A	FRMPD3	c.1598G>A	NM_032428.2	NP_115804.1:p.(Ser533Asn)	NC_000023.10:g.106840608G>A	(Likely) benign	1 lab	b71d64798b
3:49161345 LAMB2 C>T	3	49161345	49161345	C	T	LAMB2	c.3613G>A	NM_002292.3	NP_002283.3:p.(Ala1205Thr)	NC_000003.11:g.49161345C>T	VUS	1 lab	b71e93a4a8
15:76866632 SCAPER T>C	15	76866632	76866632	T	C	SCAPER	c.2730-7A>G	NM_001353009.1	NP_001339938.1:p.?	NC_000015.9:g.76866632T>C	(Likely) benign	1 lab	b71eb35d39
2:8953414 KIDINS220 C>T	2	8953414	8953414	C	T	KIDINS220	c.358G>A	NM_001348738.1	NP_001335667.1:p.(Val120Ile)	NC_000002.11:g.8953414C>T	(Likely) benign	1 lab	b71eea8d3c
16:15831301 MYH11 G>A	16	15831301	15831301	G	A	MYH11	c.3314+5C>T	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15831301G>A	(Likely) benign	1 lab	b71f507388
15:25605663 UBE3A G>A	15	25605663	25605663	G	A	UBE3A	c.1560C>T	NM_001354543.1	NP_001341472.1:p.(Ile520=)	NC_000015.9:g.25605663G>A	(Likely) benign	1 lab	b7229d1da4
13:39425172 FREM2 A>G	13	39425172	39425172	A	G	FREM2	c.6669A>G	NM_207361.5	NP_997244.4:p.(Gln2223=)	NC_000013.10:g.39425172A>G	(Likely) benign	1 lab	b7238ef299
15:28447740 HERC2 G>A	15	28447740	28447740	G	A	HERC2	c.7233C>T	NM_004667.5	NP_004658.3:p.(Cys2411=)	NC_000015.9:g.28447740G>A	(Likely) benign	1 lab	b727b5a05b
3:121713066 ILDR1 C>T	3	121713066	121713066	C	T	ILDR1	c.741G>A	NM_001199799.1	NP_001186728.1:p.(Gln247=)	NC_000003.11:g.121713066C>T	(Likely) benign	1 lab	b72b77bc09
X:17746118 NHS G>A	X	17746118	17746118	G	A	NHS	c.3892G>A	NM_001291867.1	NP_001278796.1:p.(Glu1298Lys)	NC_000023.10:g.17746118G>A	(Likely) benign	1 lab	b72c54bed4
14:77744817 POMT2 G>A	14	77744817	77744817	G	A	POMT2	c.2067C>T	NM_013382.5	NP_037514.2:p.(Ala689=)	NC_000014.8:g.77744817G>A	(Likely) benign	1 lab	b72ca0cbb3
11:5717730 TRIM22 G>A	11	5717730	5717730	G	A	TRIM22	c.268G>A	NM_001199573.1	NP_001186502.1:p.(Glu90Lys)	NC_000011.9:g.5717730G>A	(Likely) benign	1 lab	b72cf8d3ca
11:66616566 PC G>A	11	66616566	66616566	G	A	PC	c.3341C>T	NM_001040716.1	NP_001035806.1:p.(Ala1114Val)	NC_000011.9:g.66616566G>A	VUS	1 lab	b72dbf341d
4:79387417 FRAS1 G>A	4	79387417	79387417	G	A	FRAS1	c.7085G>A	NM_025074.7	NP_079350.5:p.(Arg2362Gln)	NC_000004.11:g.79387417G>A	VUS	1 lab	b7341eb445
17:4644151 ZMYND15 A>G	17	4644151	4644151	A	G	ZMYND15	c.308A>G	NM_001136046.3	NP_001129518.1:p.(Tyr103Cys)	NC_000017.10:g.4644151A>G	VUS	1 lab	b73446cb19
7:17373659 AHR A>G	7	17373659	17373659	A	G	AHR	c.829A>G	NM_001621.5	NP_001612.1:p.(Ile277Val)	NC_000007.13:g.17373659A>G	VUS	1 lab	b736782fe8
2:63714617 WDPCP C>T	2	63714617	63714617	C	T	WDPCP	c.172G>A	NM_015910.6	NP_056994.3:p.(Gly58Arg)	NC_000002.11:g.63714617C>T	VUS	1 lab	b736d1c61c
17:73227999 NUP85 C>A	17	73227999	73227999	C	A	NUP85	c.1183C>A	NM_001303276.1	NP_001290205.1:p.(Arg395=)	NC_000017.10:g.73227999C>A	VUS	1 lab	b7371cf58a
3:197431447 RUBCN G>A	3	197431447	197431447	G	A	RUBCN	c.249C>T	NM_001145642.4	NP_001139114.1:p.(Leu83=)	NC_000003.11:g.197431447G>A	(Likely) benign	1 lab	b737292e31
5:115783406 SEMA6A A>C	5	115783406	115783406	A	C	SEMA6A	c.2047T>G	NM_001300780.1	NP_001287709.1:p.(Ser683Ala)	NC_000005.9:g.115783406A>C	VUS	1 lab	b73977232a
19:48339580 CRX A>C	19	48339580	48339580	A	C	CRX	c.181A>C	NM_000554.5	NP_000545.1:p.(Thr61Pro)	NC_000019.9:g.48339580A>C	VUS	1 lab	b73ad7e017
5:14364779 TRIO A>G	5	14364779	14364779	A	G	TRIO	c.2608A>G	NM_007118.3	NP_009049.2:p.(Arg870Gly)	NC_000005.9:g.14364779A>G	VUS	1 lab	b73bc201f0
22:41553265 EP300 C>T	22	41553265	41553265	C	T	EP300	c.3354C>T	NM_001429.3	NP_001420.2:p.(Val1118=)	NC_000022.10:g.41553265C>T	(Likely) benign	1 lab	b73c490a27
3:178947230 PIK3CA T>C	3	178947230	178947230	T	C	PIK3CA	c.2666T>C	NM_006218.2	NP_006209.2:p.(Ile889Thr)	NC_000003.11:g.178947230T>C	VUS	1 lab	b73d1d737e
12:40702939 LRRK2 T>C	12	40702939	40702939	T	C	LRRK2	c.4221T>C	NM_198578.3	NP_940980.3:p.(His1407=)	NC_000012.11:g.40702939T>C	(Likely) benign	1 lab	b73e183661
10:73337684 CDH23 G>A	10	73337684	73337684	G	A	CDH23	c.767G>A	NM_022124.5	NP_071407.4:p.(Arg256His)	NC_000010.10:g.73337684G>A	VUS	1 lab	b73f80685a
5:140574472 PCDHB10 A>G	5	140574472	140574472	A	G	PCDHB10	c.2347A>G	NM_018930.3	NP_061753.1:p.(Arg783Gly)	NC_000005.9:g.140574472A>G	(Likely) benign	1 lab	b740b4c6dd
7:94034162 COL1A2 T>A	7	94034162	94034162	T	A	COL1A2	c.390T>A	NM_000089.3	NP_000080.2:p.(Gly130=)	NC_000007.13:g.94034162T>A	(Likely) benign	1 lab	b741dc3af3
2:113326360 POLR1B T>C	2	113326360	113326360	T	C	POLR1B	c.1538T>C	NM_001282777.1	NP_001269706.1:p.(Phe513Ser)	NC_000002.11:g.113326360T>C	(Likely) benign	1 lab	b7422ca204
3:137890527 DBR1 A>G	3	137890527	137890527	A	G	DBR1	c.351T>C	NM_016216.3	NP_057300.2:p.(Gly117=)	NC_000003.11:g.137890527A>G	(Likely) benign	1 lab	b74634aad9
7:104731683 KMT2E TATAGA>T	7	104731683	104731689	TATAGA	T	KMT2E	c.1646_1650del	NM_182931.3	NP_891847.1:p.(Ile549ArgfsTer6)	NC_000007.13:g.104731685_104731689del	VUS	1 lab	b7464266f6
3:132241676 DNAJC13 G>A	3	132241676	132241676	G	A	DNAJC13	c.5678G>A	NM_015268.4	NP_056083.3:p.(Arg1893Gln)	NC_000003.11:g.132241676G>A	VUS	1 lab	b74648b1d4
6:7583175 DSP A>C	6	7583175	7583175	A	C	DSP	c.5680A>C	NM_004415.2	NP_004406.2:p.(Ser1894Arg)	NC_000006.11:g.7583175A>C	(Likely) benign	1 lab	b74989fbe2
17:422409 VPS53 G>A	17	422409	422409	G	A	VPS53	c.2458C>T	NM_001128159.2	NP_001121631.1:p.(Arg820Cys)	NC_000017.10:g.422409G>A	VUS	1 lab	b74b5ee3de
X:77245254 ATP7A CTG>C	X	77245254	77245258	CTG	C	ATP7A	c.1139_1140del	NM_000052.7	NP_000043.4:p.(Val380AspfsTer4)	NC_000023.10:g.77245257_77245258del	(Likely) pathogenic	1 lab	b74b7b081f
1:103440428 COL11A1 T>C	1	103440428	103440428	T	C	COL11A1	c.2802A>G	NM_080629.2	NP_542196.2:p.(Gly934=)	NC_000001.10:g.103440428T>C	(Likely) benign	1 lab	b74bacc6a3
12:8666330 CLEC4D T>C	12	8666330	8666330	T	C	CLEC4D	c.2T>C	NM_080387.5	NP_525126.2:p.(Met1?)	NC_000012.11:g.8666330T>C	VUS	1 lab	b74bebc66c
1:217955552 SPATA17 C>T	1	217955552	217955552	C	T	SPATA17	c.760C>T	NM_138796.4	NP_620151.1:p.(Arg254Cys)	NC_000001.10:g.217955552C>T	VUS	1 lab	b74cadef74
4:79188006 FRAS1 G>A	4	79188006	79188006	G	A	FRAS1	c.706G>A	NM_025074.7	NP_079350.5:p.(Glu236Lys)	NC_000004.11:g.79188006G>A	(Likely) benign	1 lab	b74e0877ad
19:13136059 NFIX G>T	19	13136059	13136059	G	T	NFIX	c.276G>T	NM_001271043.2	NP_001257972.1:p.(Arg92=)	NC_000019.9:g.13136059G>T	(Likely) benign	1 lab	b74f93ba24
11:134018655 JAM3 A>G	11	134018655	134018655	A	G	JAM3	c.843-4A>G	NM_032801.4	NP_116190.3:p.?	NC_000011.9:g.134018655A>G	(Likely) benign	1 lab	b74fa0eb01
9:117166243 WHRN G>C	9	117166243	117166243	G	C	WHRN	c.2351C>G	NM_015404.3	NP_056219.3:p.(Ser784Cys)	NC_000009.11:g.117166243G>C	VUS	1 lab	b750d9f111
9:117168883 WHRN C>T	9	117168883	117168883	C	T	WHRN	c.1988G>A	NM_015404.3	NP_056219.3:p.(Arg663Lys)	NC_000009.11:g.117168883C>T	VUS	1 lab	b7512d25d7
16:2137932 TSC2 G>A	16	2137932	2137932	G	A	TSC2	c.5058G>A	NM_000548.3	NP_000539.2:p.(Gln1686=)	NC_000016.9:g.2137932G>A	(Likely) benign	1 lab	b7517052ae
6:111804059 REV3L G>A	6	111804059	111804059	G	A	REV3L	c.33C>T	NM_002912.4	NP_002903.3:p.(Tyr11=)	NC_000006.11:g.111804059G>A	(Likely) benign	1 lab	b752b8361b
2:25384294 POMC GCTT>G	2	25384294	25384300	GCTT	G	POMC	c.457_459del	NM_000939.4	NP_000930.1:p.(Lys153del)	NC_000002.11:g.25384298_25384300del	VUS	1 lab	b7533a4071
13:61034593 TDRD3 C>T	13	61034593	61034593	C	T	TDRD3	c.272C>T	NM_001146070.1	NP_001139542.1:p.(Ala91Val)	NC_000013.10:g.61034593C>T	VUS	1 lab	b7544b10f8
22:41568649 EP300 C>G	22	41568649	41568649	C	G	EP300	c.4599C>G	NM_001429.3	NP_001420.2:p.(Thr1533=)	NC_000022.10:g.41568649C>G	(Likely) benign	1 lab	b75544a18b
19:4358128 MPND G>A	19	4358128	4358128	G	A	MPND	c.1285G>A	NM_001300862.1	NP_001287791.1:p.(Val429Ile)	NC_000019.9:g.4358128G>A	VUS	1 lab	b75735a345
16:2331230 ABCA3 C>T	16	2331230	2331230	C	T	ABCA3	c.4165-8G>A	NM_001089.2	NP_001080.2:p.?	NC_000016.9:g.2331230C>T	VUS	1 lab	b757f383c9
9:133065795 HMCN2 T>C	9	133065795	133065795	T	C	HMCN2	c.1451T>C	NM_001291815.2	NP_001278744.1:p.(Leu484Pro)	NC_000009.11:g.133065795T>C	VUS	1 lab	b758cb2ffb
7:42005067 GLI3 G>A	7	42005067	42005067	G	A	GLI3	c.3604C>T	NM_000168.5	NP_000159.3:p.(Gln1202Ter)	NC_000007.13:g.42005067G>A	(Likely) pathogenic	1 lab	b75943e904
X:68059586 EFNB1 GAAGGTTGGGC>G	X	68059586	68059601	GAAGGTTGGGC	G	EFNB1	c.492_499+2del	NM_004429.5	NP_004420.1:p.?	NC_000023.10:g.68059592_68059601del	(Likely) pathogenic	1 lab	b75996550d
2:26684643 OTOF G>A	2	26684643	26684643	G	A	OTOF	c.5454C>T	NM_194248.2	NP_919224.1:p.(Asp1818=)	NC_000002.11:g.26684643G>A	(Likely) benign	1 lab	b759fb84fd
11:134015829 JAM3 T>A	11	134015829	134015829	T	A	JAM3	c.613-12T>A	NM_032801.4	NP_116190.3:p.?	NC_000011.9:g.134015829T>A	(Likely) benign	1 lab	b75a3abf48
20:17474778 BFSP1 C>G	20	17474778	17474778	C	G	BFSP1	c.1939G>C	NM_001195.4	NP_001186.1:p.(Glu647Gln)	NC_000020.10:g.17474778C>G	VUS	1 lab	b75b5d1240
7:21640361 DNAH11 T>C	7	21640361	21640361	T	C	DNAH11				NC_000007.13:g.21640361T>C	(Likely) benign	1 lab	b75b6baef8
5:179260088 SQSTM1 G>A	5	179260088	179260088	G	A	SQSTM1	c.559G>A	NM_001142298.1	NP_001135770.1:p.(Val187Ile)	NC_000005.9:g.179260088G>A	(Likely) benign	1 lab	b75d1338d1
13:102379135 FGF14 A>G	13	102379135	102379135	A	G	FGF14	c.449T>C	NM_175929.2	NP_787125.1:p.(Phe150Ser)	NC_000013.10:g.102379135A>G	(Likely) pathogenic	1 lab	b75d293bee
2:228157975 COL4A3 T>C	2	228157975	228157975	T	C	COL4A3	c.3279T>C	NM_000091.4	NP_000082.2:p.(His1093=)	NC_000002.11:g.228157975T>C	(Likely) benign	1 lab	b75e6ab6bb
3:147128844 ZIC1 C>T	3	147128844	147128844	C	T	ZIC1	c.945C>T	NM_003412.3	NP_003403.2:p.(Arg315=)	NC_000003.11:g.147128844C>T	(Likely) benign	1 lab	b75e8ca7fd
16:89858329 FANCA G>A	16	89858329	89858329	G	A	FANCA	c.1225+6C>T	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89858329G>A	(Likely) benign	1 lab	b75fb29fbb
16:2108872 TSC2 C>T	16	2108872	2108872	C	T	TSC2	c.973C>T	NM_000548.3	NP_000539.2:p.(Gln325Ter)	NC_000016.9:g.2108872C>T	(Likely) pathogenic	1 lab	b76057d385
12:80665565 OTOGL A>T	12	80665565	80665565	A	T	OTOGL	c.2629A>T	NM_173591.3	NP_775862.3:p.(Ile877Leu)	NC_000012.11:g.80665565A>T	(Likely) benign	1 lab	b76148a425
14:73664812 PSEN1 G>A	14	73664812	73664812	G	A	PSEN1	c.843G>A	NM_000021.3	NP_000012.1:p.(Thr281=)	NC_000014.8:g.73664812G>A	(Likely) benign	1 lab	b761dbb2fa
3:154834458 MME A>G	3	154834458	154834458	A	G	MME	c.445A>G	NM_007289.3	NP_009220.2:p.(Ile149Val)	NC_000003.11:g.154834458A>G	VUS	1 lab	b764225ae7
20:15948194 MACROD2 T>C	20	15948194	15948194	T	C	MACROD2	c.908-4T>C	NM_080676.5	NP_542407.2:p.?	NC_000020.10:g.15948194T>C	(Likely) benign	1 lab	b7650154ff
11:47369379 MYBPC3 T>G	11	47369379	47369379	T	G	MYBPC3	c.821+29A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369379T>G	(Likely) benign	1 lab	b766b01fc4
20:48892273 PELATON G>A	20	48892273	48892273	G	A	PELATON	c.66+1G>A	NM_001278655.1	NP_001265584.1:p.?	NC_000020.10:g.48892273G>A	VUS	1 lab	b7670c5d6a
15:89876898 POLG C>T	15	89876898	89876898	C	T	POLG	c.88G>A	NM_002693.2	NP_002684.1:p.(Val30Ile)	NC_000015.9:g.89876898C>T	(Likely) benign	1 lab	b767a57535
16:2129198 TSC2 G>A	16	2129198	2129198	G	A	TSC2	c.3131+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129198G>A	(Likely) pathogenic	1 lab	b7682ce236
6:10791950 MAK A>G	6	10791950	10791950	A	G	MAK	c.1274T>C	NM_001242957.2	NP_001229886.1:p.(Met425Thr)	NC_000006.11:g.10791950A>G	(Likely) benign	1 lab	b768371ad7
12:56867034 GLS2 C>T	12	56867034	56867034	C	T	GLS2	c.599G>A	NM_001280796.1	NP_001267725.1:p.(Arg200Gln)	NC_000012.11:g.56867034C>T	VUS	1 lab	b768e60dfb
7:4822985 AP5Z1 C>T	7	4822985	4822985	C	T	AP5Z1	c.405C>T	NM_014855.3	NP_055670.1:p.(Gly135=)	NC_000007.13:g.4822985C>T	(Likely) benign	1 lab	b7697aecaa
6:107780451 PDSS2 A>G	6	107780451	107780451	A	G	PDSS2	c.39T>C	NM_020381.3	NP_065114.3:p.(Tyr13=)	NC_000006.11:g.107780451A>G	(Likely) benign	1 lab	b76a5ef28c
15:28358225 HERC2 C>T	15	28358225	28358225	C	T	HERC2	c.14224G>A	NM_004667.5	NP_004658.3:p.(Val4742Ile)	NC_000015.9:g.28358225C>T	VUS	1 lab	b76b6d8a83
6:112508792 LAMA4 A>G	6	112508792	112508792	A	G	LAMA4	c.826T>C	NM_001105206.2	NP_001098676.2:p.(Cys276Arg)	NC_000006.11:g.112508792A>G	VUS	1 lab	b76c85dc07
1:196706645 CFH A>G	1	196706645	196706645	A	G	CFH	c.2637A>G	NM_000186.3	NP_000177.2:p.(Gly879=)	NC_000001.10:g.196706645A>G	(Likely) benign	1 lab	b76c8a775f
14:74995228 LTBP2 C>T	14	74995228	74995228	C	T	LTBP2	c.2326G>A	NM_000428.2	NP_000419.1:p.(Val776Ile)	NC_000014.8:g.74995228C>T	VUS	1 lab	b76cb0bbd3
20:47587902 ARFGEF2 C>T	20	47587902	47587902	C	T	ARFGEF2	c.1425+11C>T	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47587902C>T	(Likely) benign	1 lab	b76d982cef
8:87755779 CNGB3 C>T	8	87755779	87755779	C	T	CNGB3	c.77G>A	NM_019098.4	NP_061971.3:p.(Arg26Gln)	NC_000008.10:g.87755779C>T	(Likely) benign	1 lab	b76f17262b
1:1471015 TMEM240 G>A	1	1471015	1471015	G	A	TMEM240	c.327C>T	NM_001114748.1	NP_001108220.1:p.(Gly109=)	NC_000001.10:g.1471015G>A	(Likely) benign	1 lab	b76f3cba18
2:112702607 MERTK G>A	2	112702607	112702607	G	A	MERTK	c.553G>A	NM_006343.2	NP_006334.2:p.(Val185Met)	NC_000002.11:g.112702607G>A	VUS	1 lab	b76fd36a49
3:142231305 ATR G>A	3	142231305	142231305	G	A	ATR	c.4649C>T	NM_001184.3	NP_001175.2:p.(Ala1550Val)	NC_000003.11:g.142231305G>A	(Likely) benign	1 lab	b774d0d399
5:176631240 NSD1 C>T	5	176631240	176631240	C	T	NSD1	c.1183C>T	NM_022455.4	NP_071900.2:p.(Leu395=)	NC_000005.9:g.176631240C>T	(Likely) pathogenic	1 lab	b77565adb1
2:47672737 MSH2 C>G	2	47672737	47672737	C	G	MSH2	c.1327C>G	NM_000251.2	NP_000242.1:p.(Leu443Val)	NC_000002.11:g.47672737C>G	VUS	1 lab	b77592cd84
2:74596259 DCTN1 T>C	2	74596259	74596259	T	C	DCTN1	c.1667A>G	NM_004082.4	NP_004073.2:p.(Lys556Arg)	NC_000002.11:g.74596259T>C	VUS	1 lab	b775ac7301
22:41921326 ACO2 C>T	22	41921326	41921326	C	T	ACO2	c.1735C>T	NM_001098.2	NP_001089.1:p.(Leu579=)	NC_000022.10:g.41921326C>T	(Likely) benign	1 lab	b775de2c2b
9:34371863 MYORG TA>T	9	34371863	34371865	TA	T	MYORG	c.1078del	NM_020702.5	NP_065753.2:p.(Tyr360MetfsTer74)	NC_000009.11:g.34371865del	VUS	1 lab	b7760d40f8
18:56338966 MALT1 A>C	18	56338966	56338966	A	C	MALT1	c.91A>C	NM_006785.4	NP_006776.1:p.(Asn31His)	NC_000018.9:g.56338966A>C	VUS	1 lab	b776a38db3
17:29553451 NF1 A>G	17	29553451	29553451	A	G	NF1	c.2002-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553451A>G	(Likely) pathogenic	1 lab	b77831f328
1:153279549 PGLYRP3 C>G	1	153279549	153279549	C	G	PGLYRP3	c.250G>C	NM_052891.2	NP_443123.1:p.(Ala84Pro)	NC_000001.10:g.153279549C>G	VUS	1 lab	b7786d6d8e
2:189849493 COL3A1 A>C	2	189849493	189849493	A	C	COL3A1	c.87A>C	NM_000090.3	NP_000081.1:p.(Glu29Asp)	NC_000002.11:g.189849493A>C	(Likely) benign	1 lab	b7798dbbc3
17:29560230 NF1 G>GT	17	29560230	29560231	G	GT	NF1	c.3707_3708insT	NM_000267.3	NP_000258.1:p.(Trp1236CysfsTer3)	NC_000017.10:g.29560230_29560231insT	(Likely) pathogenic	1 lab	b779c4bac7
X:153690647 PLXNA3 G>C	X	153690647	153690647	G	C	PLXNA3	c.1314G>C	NM_017514.4	NP_059984.3:p.(Lys438Asn)	NC_000023.10:g.153690647G>C	VUS	1 lab	b779de7996
1:156128539 SEMA4A C>T	1	156128539	156128539	C	T	SEMA4A	c.492C>T	NM_022367.4	NP_071762.2:p.(Ile164=)	NC_000001.10:g.156128539C>T	(Likely) benign	1 lab	b77afa0c0c
16:3781361 CREBBP G>A	16	3781361	3781361	G	A	CREBBP	c.5004C>T	NM_004380.2	NP_004371.2:p.(Leu1668=)	NC_000016.9:g.3781361G>A	(Likely) benign	1 lab	b77b2485c4
13:103704995 SLC10A2 G>A	13	103704995	103704995	G	A	SLC10A2	c.560C>T	NM_000452.2	NP_000443.1:p.(Pro187Leu)	NC_000013.10:g.103704995G>A	VUS	1 lab	b77b487bbd
6:10557173 GCNT2 A>G	6	10557173	10557173	A	G	GCNT2	c.517A>G	NM_001491.2	NP_001482.1:p.(Arg173Gly)	NC_000006.11:g.10557173A>G	(Likely) benign	1 lab	b77c7754e8
3:4704852 ITPR1 C>T	3	4704852	4704852	C	T	ITPR1	c.1516C>T	NM_001099952.2	NP_001093422.2:p.(Arg506Trp)	NC_000003.11:g.4704852C>T	VUS	1 lab	b77dca1e78
2:216259405 FN1 G>A	2	216259405	216259405	G	A	FN1	c.3642C>T	NM_212482.2	NP_997647.1:p.(Asn1214=)	NC_000002.11:g.216259405G>A	(Likely) benign	1 lab	b780b62f26
3:4735365 ITPR1 C>T	3	4735365	4735365	C	T	ITPR1	c.4176C>T	NM_001168272.1	NP_001161744.1:p.(Asn1392=)	NC_000003.11:g.4735365C>T	(Likely) benign	1 lab	b78135fd3f
6:170181548 ERMARD G>T	6	170181548	170181548	G	T	ERMARD	c.1976G>T	NM_018341.2	NP_060811.1:p.(Ser659Ile)	NC_000006.11:g.170181548G>T	(Likely) benign	1 lab	b78191362f
9:137646150 COL5A1 C>T	9	137646150	137646150	C	T	COL5A1	c.1805C>T	NM_000093.4	NP_000084.3:p.(Pro602Leu)	NC_000009.11:g.137646150C>T	VUS	1 lab	b7826993d1
X:83128157 CYLC1 A>C	X	83128157	83128157	A	C	CYLC1	c.441A>C	NM_021118.2	NP_066941.1:p.(Ile147=)	NC_000023.10:g.83128157A>C	(Likely) benign	1 lab	b783508a85
19:35434949 ZNF30 A>G	19	35434949	35434949	A	G	ZNF30	c.1082A>G	NM_001099438.1	NP_001092908.1:p.(His361Arg)	NC_000019.9:g.35434949A>G	(Likely) benign	1 lab	b784291045
8:6478982 MCPH1 G>A	8	6478982	6478982	G	A	MCPH1	c.2222G>A	NM_001322042.1	NP_001308971.1:p.(Arg741Gln)	NC_000008.10:g.6478982G>A	VUS	1 lab	b7843dd938
3:108773732 MORC1 G>A	3	108773732	108773732	G	A	MORC1	c.1176-3C>T	NM_014429.3	NP_055244.3:p.?	NC_000003.11:g.108773732G>A	(Likely) benign	1 lab	b78493f5c7
16:2136476 TSC2 CA>C	16	2136476	2136477	CA	C	TSC2	c.4849+97del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2136477del	(Likely) benign	1 lab	b79c1d36bd
1:216424324 USH2A G>T	1	216424324	216424324	G	T	USH2A	c.2088C>A	NM_206933.2	NP_996816.2:p.(Cys696Ter)	NC_000001.10:g.216424324G>T	(Likely) pathogenic	1 lab	b78637ee11
9:79814854 VPS13A T>C	9	79814854	79814854	T	C	VPS13A	c.101-7T>C	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79814854T>C	(Likely) benign	1 lab	b78851d8f6
5:1279516 TERT CG>C	5	1279516	1279520	CG	C	TERT	c.2019del	NM_198253.3	NP_937983.2:p.(Gly674AlafsTer40)	NC_000005.9:g.1279520del	VUS	1 lab	b78ac3d232
X:99662162 PCDH19 G>A	X	99662162	99662162	G	A	PCDH19	c.1434C>T	NM_001184880.1	NP_001171809.1:p.(Arg478=)	NC_000023.10:g.99662162G>A	(Likely) benign	1 lab	b78bd8b414
9:139400029 NOTCH1 A>G	9	139400029	139400029	A	G	NOTCH1	c.4319T>C	NM_017617.5	NP_060087.3:p.(Ile1440Thr)	NC_000009.11:g.139400029A>G	VUS	1 lab	b78c0c2a07
9:114246450 ECPAS A>AGGGCTGTAGAGCGAGGCGT	9	114246450	114246469	A	AGGGCTGTAGAGCGAGGCGT	ECPAS	c.-156_-138dup	NM_001364929.1	NP_001351858.1:p.?	NC_000009.11:g.114246451_114246469dup	VUS	1 lab	b78c64c313
22:32480458 SLC5A1 A>G	22	32480458	32480458	A	G	SLC5A1	c.697A>G	NM_000343.3	NP_000334.1:p.(Met233Val)	NC_000022.10:g.32480458A>G	(Likely) benign	1 lab	b78d8fc7f3
3:148880562 HPS3 T>C	3	148880562	148880562	T	C	HPS3	c.2378T>C	NM_032383.4	NP_115759.2:p.(Val793Ala)	NC_000003.11:g.148880562T>C	(Likely) benign	1 lab	b791250cd6
5:102530615 PPIP5K2 C>T	5	102530615	102530615	C	T	PPIP5K2	c.3613C>T	NM_001281471.2	NP_001268400.1:p.(Arg1205Cys)	NC_000005.9:g.102530615C>T	(Likely) benign	1 lab	b79210f80d
13:26343265 ATP8A2 C>T	13	26343265	26343265	C	T	ATP8A2	c.2466C>T	NM_016529.5	NP_057613.4:p.(Gly822=)	NC_000013.10:g.26343265C>T	(Likely) benign	1 lab	b7923249c2
X:69510287 KIF4A G>C	X	69510287	69510287	G	C	KIF4A	c.-21-1G>C	NM_012310.4	NP_036442.3:p.?	NC_000023.10:g.69510287G>C	VUS	1 lab	b793684df8
X:153218309 HCFC1 T>C	X	153218309	153218309	T	C	HCFC1	c.4598A>G	NM_005334.2	NP_005325.2:p.(Glu1533Gly)	NC_000023.10:g.153218309T>C	VUS	1 lab	b793dd950c
X:9841713 SHROOM2 G>A	X	9841713	9841713	G	A	SHROOM2	c.187G>A	NM_001649.3	NP_001640.1:p.(Ala63Thr)	NC_000023.10:g.9841713G>A	VUS	1 lab	b7950d7ff4
20:2640993 IDH3B C>G	20	2640993	2640993	C	G	IDH3B	c.684G>C	NM_006899.4	NP_008830.2:p.(Leu228Phe)	NC_000020.10:g.2640993C>G	VUS	1 lab	b79674374b
18:44143129 LOXHD1 G>A	18	44143129	44143129	G	A	LOXHD1	c.2497C>T	NM_144612.6	NP_653213.6:p.(Arg833Ter)	NC_000018.9:g.44143129G>A	(Likely) pathogenic	1 lab	b798e8a2aa
9:130941691 CIZ1 T>G	9	130941691	130941691	T	G	CIZ1	c.885A>C	NM_001257975.1	NP_001244904.1:p.(Ser295=)	NC_000009.11:g.130941691T>G	(Likely) benign	1 lab	b79a3c55f1
1:7797443 CAMTA1 G>A	1	7797443	7797443	G	A	CAMTA1	c.3471G>A	NM_015215.3	NP_056030.1:p.(Val1157=)	NC_000001.10:g.7797443G>A	(Likely) benign	1 lab	b79a9ca81b
8:140631251 KCNK9 G>A	8	140631251	140631251	G	A	KCNK9	c.375C>T	NM_001282534.1	NP_001269463.1:p.(Phe125=)	NC_000008.10:g.140631251G>A	(Likely) benign	1 lab	b79ca2412e
10:21076179 NEBL G>A	10	21076179	21076179	G	A	NEBL	c.2820C>T	NM_006393.2	NP_006384.1:p.(His940=)	NC_000010.10:g.21076179G>A	(Likely) benign	1 lab	b79ca2866c
2:135920587 RAB3GAP1 C>T	2	135920587	135920587	C	T	RAB3GAP1	c.2522C>T	NM_001172435.1	NP_001165906.1:p.(Ala841Val)	NC_000002.11:g.135920587C>T	VUS	1 lab	b79cb97ec4
3:123376054 MYLK G>A	3	123376054	123376054	G	A	MYLK	c.4207C>T	NM_053025.3	NP_444253.3:p.(Arg1403Cys)	NC_000003.11:g.123376054G>A	VUS	1 lab	b79dff812d
4:113353022 ALPK1 C>T	4	113353022	113353022	C	T	ALPK1	c.2319C>T	NM_025144.4	NP_079420.3:p.(Gly773=)	NC_000004.11:g.113353022C>T	(Likely) benign	1 lab	b79e92a51b
10:50679157 ERCC6 G>C	10	50679157	50679157	G	C	ERCC6	c.2934C>G	NM_000124.2	NP_000115.1:p.(Phe978Leu)	NC_000010.10:g.50679157G>C	VUS	1 lab	b7a0469168
16:2105515 TSC2 G>GGTTC	16	2105515	2105519	G	GGTTC	TSC2	c.595_598dup	NM_000548.3	NP_000539.2:p.(Gln200ArgfsTer36)	NC_000016.9:g.2105516_2105519dup	(Likely) pathogenic	1 lab	b7a0fe22df
11:70049743 FADD A>C	11	70049743	70049743	A	C	FADD	c.178A>C	NM_003824.3	NP_003815.1:p.(Thr60Pro)	NC_000011.9:g.70049743A>C	VUS	1 lab	b7a1551bfb
12:123474367 PITPNM2 C>T	12	123474367	123474367	C	T	PITPNM2	c.2698G>A	NM_020845.2	NP_065896.1:p.(Ala900Thr)	NC_000012.11:g.123474367C>T	(Likely) benign	1 lab	b7a2c1afd1
10:55582758 PCDH15 C>T	10	55582758	55582758	C	T	PCDH15	c.4749G>A	NM_001142763.1	NP_001136235.1:p.(Gln1583=)	NC_000010.10:g.55582758C>T	(Likely) benign	1 lab	b7a55de2fe
15:65447288 CLPX A>G	15	65447288	65447288	A	G	CLPX	c.1443T>C	NM_006660.5	NP_006651.2:p.(His481=)	NC_000015.9:g.65447288A>G	(Likely) benign	1 lab	b7a74dd329
5:176637201 NSD1 A>T	5	176637201	176637201	A	T	NSD1	c.1801A>T	NM_022455.4	NP_071900.2:p.(Lys601Ter)	NC_000005.9:g.176637201A>T	(Likely) pathogenic	1 lab	b7a87ff2a0
9:35657751 RMRP G>A	9	35657751	35657751	G	A	RMRP	n.265C>T	NR_003051.3		NC_000009.11:g.35657751G>A	VUS	1 lab	b7a9353cf5
16:424273 PGAP6 C>T	16	424273	424273	C	T	PGAP6	c.1703G>A	NM_021259.3	NP_067082.2:p.(Arg568Gln)	NC_000016.9:g.424273C>T	VUS	1 lab	b7a98fa161
12:49425979 KMT2D G>A	12	49425979	49425979	G	A	KMT2D	c.12509C>T	NM_003482.3	NP_003473.3:p.(Pro4170Leu)	NC_000012.11:g.49425979G>A	VUS	1 lab	b7a994fca4
2:189899663 COL5A2 G>C	2	189899663	189899663	G	C	COL5A2	c.4332C>G	NM_000393.4	NP_000384.2:p.(Ile1444Met)	NC_000002.11:g.189899663G>C	(Likely) benign	1 lab	b7a9eca157
8:10469005 RP1L1 G>A	8	10469005	10469005	G	A	RP1L1	c.2603C>T	NM_178857.5	NP_849188.4:p.(Ser868Phe)	NC_000008.10:g.10469005G>A	VUS	1 lab	b7aa131bb6
2:110926097 NPHP1 G>GT	2	110926097	110926105	G	GT	NPHP1	c.555dup	NM_000272.3	NP_000263.2:p.(Pro186ThrfsTer2)	NC_000002.11:g.110926105dup	(Likely) pathogenic	1 lab	b7ab2886a4
4:113568861 LARP7 C>T	4	113568861	113568861	C	T	LARP7	c.1034C>T	NM_001267039.1	NP_001253968.1:p.(Thr345Ile)	NC_000004.11:g.113568861C>T	(Likely) benign	1 lab	b7aba38172
17:29554554 NF1 C>A	17	29554554	29554554	C	A	NF1	c.2339C>A	NM_000267.3	NP_000258.1:p.(Thr780Lys)	NC_000017.10:g.29554554C>A	(Likely) pathogenic	1 lab	b7ac370441
X:153716308 SLC10A3 C>G	X	153716308	153716308	C	G	SLC10A3	c.972G>C	NM_019848.4	NP_062822.1:p.(Leu324=)	NC_000023.10:g.153716308C>G	(Likely) benign	1 lab	b7ad4004ea
17:29559161 NF1 G>T	17	29559161	29559161	G	T	NF1	c.3268G>T	NM_000267.3	NP_000258.1:p.(Gly1090Ter)	NC_000017.10:g.29559161G>T	(Likely) pathogenic	1 lab	b7ae440f9f
3:25636021 RARB C>T	3	25636021	25636021	C	T	RARB	c.1023C>T	NM_001290216.2	NP_001277145.1:p.(Asp341=)	NC_000003.11:g.25636021C>T	(Likely) benign	1 lab	b7aec71400
4:119220015 PRSS12 T>C	4	119220015	119220015	T	C	PRSS12	c.1710A>G	NM_003619.3	NP_003610.2:p.(Thr570=)	NC_000004.11:g.119220015T>C	(Likely) benign	1 lab	b7b0d2caa8
X:153032954 PLXNB3 G>A	X	153032954	153032954	G	A	PLXNB3	c.741G>A	NM_001163257.1	NP_001156729.1:p.(Val247=)	NC_000023.10:g.153032954G>A	VUS	1 lab	b7b49ad01a
16:57935471 CNGB1 G>T	16	57935471	57935471	G	T	CNGB1	c.2853C>A	NM_001297.4	NP_001288.3:p.(Asp951Glu)	NC_000016.9:g.57935471G>T	(Likely) benign	1 lab	b7b54486d3
8:10466324 RP1L1 C>T	8	10466324	10466324	C	T	RP1L1	c.5284G>A	NM_178857.5	NP_849188.4:p.(Glu1762Lys)	NC_000008.10:g.10466324C>T	(Likely) benign	1 lab	b7b6018e3b
10:73406269 CDH23 C>T	10	73406269	73406269	C	T	CDH23	c.1344C>T	NM_022124.5	NP_071407.4:p.(Ile448=)	NC_000010.10:g.73406269C>T	(Likely) benign	1 lab	b7b6954ed9
1:215932063 USH2A C>G	1	215932063	215932063	C	G	USH2A	c.11263G>C	NM_206933.2	NP_996816.2:p.(Gly3755Arg)	NC_000001.10:g.215932063C>G	VUS	1 lab	b7b6b034db
5:90049491 ADGRV1 G>A	5	90049491	90049491	G	A	ADGRV1	c.11222G>A	NM_032119.4	NP_115495.3:p.(Arg3741His)	NC_000005.9:g.90049491G>A	VUS	1 lab	b7b6c68d7f
11:36595248 RAG1 C>T	11	36595248	36595248	C	T	RAG1	c.394C>T	NM_000448.2	NP_000439.1:p.(Pro132Ser)	NC_000011.9:g.36595248C>T	VUS	1 lab	b7b9be968c
17:73748601 ITGB4 G>A	17	73748601	73748601	G	A	ITGB4	c.4051G>A	NM_000213.4	NP_000204.3:p.(Asp1351Asn)	NC_000017.10:g.73748601G>A	(Likely) benign	1 lab	b7bad8edfd
11:18306964 HPS5 G>A	11	18306964	18306964	G	A	HPS5	c.2880C>T	NM_181507.1	NP_852608.1:p.(Ile960=)	NC_000011.9:g.18306964G>A	(Likely) benign	1 lab	b7bb0a88b5
19:11325235 DOCK6 G>A	19	11325235	11325235	G	A	DOCK6	c.4197C>T	NM_020812.3	NP_065863.2:p.(Ile1399=)	NC_000019.9:g.11325235G>A	(Likely) benign	1 lab	b7bb6b2b1e
7:107580508 LAMB1 C>T	7	107580508	107580508	C	T	LAMB1	c.3687G>A	NM_002291.2	NP_002282.2:p.(Glu1229=)	NC_000007.13:g.107580508C>T	(Likely) benign	1 lab	b7bc14c386
14:100367379 EML1 A>G	14	100367379	100367379	A	G	EML1	c.1065+3A>G	NM_001008707.1	NP_001008707.1:p.?	NC_000014.8:g.100367379A>G	VUS	1 lab	b7bc205eb2
16:88498490 ZNF469 G>A	16	88498490	88498490	G	A	ZNF469				NC_000016.9:g.88498490G>A	(Likely) benign	1 lab	b7be83a58a
6:129513861 LAMA2 C>T	6	129513861	129513861	C	T	LAMA2	c.1645C>T	NM_000426.3	NP_000417.2:p.(Pro549Ser)	NC_000006.11:g.129513861C>T	(Likely) benign	1 lab	b7bed15cd2
9:135781439 TSC1 C>T	9	135781439	135781439	C	T	TSC1	c.1526G>A	NM_000368.4	NP_000359.1:p.(Arg509Gln)	NC_000009.11:g.135781439C>T	(Likely) pathogenic	1 lab	b7bf35cf81
19:9068455 MUC16 C>T	19	9068455	9068455	C	T	MUC16	c.18991G>A	NM_024690.2	NP_078966.2:p.(Ala6331Thr)	NC_000019.9:g.9068455C>T	(Likely) benign	1 lab	b7bfec33fc
15:62212426 VPS13C A>G	15	62212426	62212426	A	G	VPS13C	c.7317T>C	NM_001018088.2	NP_001018098.1:p.(Asn2439=)	NC_000015.9:g.62212426A>G	(Likely) benign	1 lab	b7c04e1b87
2:179466465 TTN C>T	2	179466465	179466465	C	T	TTN	c.55352G>A	NM_001267550.1	NP_001254479.1:p.(Arg18451Gln)	NC_000002.11:g.179466465C>T	VUS	1 lab	b7c149c8d4
17:76464907 DNAH17 A>G	17	76464907	76464907	A	G	DNAH17	c.8570T>C	NM_173628.3	NP_775899.3:p.(Leu2857Pro)	NC_000017.10:g.76464907A>G	VUS	1 lab	b7c23b9f8a
X:13680730 TCEANC A>T	X	13680730	13680730	A	T	TCEANC	c.103A>T	NM_001297563.1	NP_001284492.1:p.(Thr35Ser)	NC_000023.10:g.13680730A>T	(Likely) benign	1 lab	b7c2e7ca32
18:72515950 ZNF407 G>A	18	72515950	72515950	G	A	ZNF407	c.4908G>A	NM_001146190.1	NP_001139662.1:p.(Thr1636=)	NC_000018.9:g.72515950G>A	(Likely) benign	1 lab	b7c3d3ba91
16:31497527 SLC5A2 GC>G	16	31497527	31497528	GC	G	SLC5A2	c.506del	NM_003041.4	NP_003032.1:p.(Ala169ValfsTer18)	NC_000016.9:g.31497528del	(Likely) pathogenic	1 lab	b7c4786398
12:15776217 EPS8 C>T	12	15776217	15776217	C	T	EPS8	c.2230G>A	NM_004447.5	NP_004438.3:p.(Val744Ile)	NC_000012.11:g.15776217C>T	(Likely) benign	1 lab	b7c56964ef
11:126143262 FOXRED1 T>G	11	126143262	126143262	T	G	FOXRED1	c.449T>G	NM_017547.3	NP_060017.1:p.(Leu150Arg)	NC_000011.9:g.126143262T>G	VUS	1 lab	b7c659212f
14:102906928 TECPR2 G>T	14	102906928	102906928	G	T	TECPR2	c.2734G>T	NM_014844.4	NP_055659.2:p.(Asp912Tyr)	NC_000014.8:g.102906928G>T	VUS	1 lab	b7c6cc4f81
21:46306313 ITGB2 C>T	21	46306313	46306313	C	T	ITGB2	c.2280G>A	NM_000211.3	NP_000202.2:p.(Thr760=)	NC_000021.8:g.46306313C>T	(Likely) benign	1 lab	b7c71b1e68
21:47831618 PCNT C>T	21	47831618	47831618	C	T	PCNT	c.5631C>T	NM_006031.5	NP_006022.3:p.(Ile1877=)	NC_000021.8:g.47831618C>T	(Likely) benign	1 lab	b7c7c6ede0
9:126132598 CRB2 C>T	9	126132598	126132598	C	T	CRB2	c.1266C>T	NM_173689.6	NP_775960.4:p.(Tyr422=)	NC_000009.11:g.126132598C>T	(Likely) benign	1 lab	b7c8da0367
14:105418287 AHNAK2 C>T	14	105418287	105418287	C	T	AHNAK2	c.3501G>A	NM_138420.3	NP_612429.2:p.(Lys1167=)	NC_000014.8:g.105418287C>T	(Likely) benign	1 lab	b7c8e8170e
11:118065081 JAML T>C	11	118065081	118065081	T	C	JAML	c.1114A>G	NM_153206.2	NP_694938.2:p.(Lys372Glu)	NC_000011.9:g.118065081T>C	VUS	1 lab	b7cd33a36c
X:106957875 TSC22D3 C>T	X	106957875	106957875	C	T	TSC22D3	c.477G>A	NM_198057.2	NP_932174.1:p.(Glu159=)	NC_000023.10:g.106957875C>T	(Likely) benign	1 lab	b7ce7caba8
X:37026836 FAM47C T>A	X	37026836	37026836	T	A	FAM47C	c.353T>A	NM_001013736.2	NP_001013758.1:p.(Val118Glu)	NC_000023.10:g.37026836T>A	VUS	1 lab	b7d048cdcb
2:21239427 APOB G>A	2	21239427	21239427	G	A	APOB	c.3216C>T	NM_000384.2	NP_000375.2:p.(Asp1072=)	NC_000002.11:g.21239427G>A	(Likely) benign	1 lab	b7d0b541d5
2:73800515 ALMS1 A>G	2	73800515	73800515	A	G	ALMS1	c.11514A>G	NM_015120.4	NP_055935.4:p.(Leu3838=)	NC_000002.11:g.73800515A>G	VUS	1 lab	b7d1668afa
19:1207064 STK11 T>TGG	19	1207064	1207069	T	TGG	STK11	c.156_157dup	NM_000455.4	NP_000446.1:p.(Asp53GlyfsTer12)	NC_000019.9:g.1207068_1207069dup	(Likely) pathogenic	1 lab	b7d24719ed
16:2546587 TBC1D24 C>T	16	2546587	2546587	C	T	TBC1D24	c.438C>T	NM_001199107.1	NP_001186036.1:p.(Ile146=)	NC_000016.9:g.2546587C>T	(Likely) benign	1 lab	b7d466a5dd
19:1007860 GRIN3B A>AC	19	1007860	1007867	A	AC	GRIN3B	c.2211dup	NM_138690.2	NP_619635.1:p.(Lys738GlnfsTer34)	NC_000019.9:g.1007867dup	VUS	1 lab	b7d61634b7
5:149512495 PDGFRB G>A	5	149512495	149512495	G	A	PDGFRB	c.462C>T	NM_001355017.1	NP_001341946.1:p.(Tyr154=)	NC_000005.9:g.149512495G>A	(Likely) benign	1 lab	b7d6579436
11:67290170 CABP2 G>T	11	67290170	67290170	G	T	CABP2	c.60C>A	NM_016366.2	NP_057450.2:p.(Leu20=)	NC_000011.9:g.67290170G>T	(Likely) benign	1 lab	b7d6b73d23
1:120458388 NOTCH2 C>T	1	120458388	120458388	C	T	NOTCH2	c.6957G>A	NM_024408.3	NP_077719.2:p.(Ala2319=)	NC_000001.10:g.120458388C>T	(Likely) benign	1 lab	b7d6dc2259
15:49040737 CEP152 C>G	15	49040737	49040737	C	G	CEP152	c.3537G>C	NM_001194998.1	NP_001181927.1:p.(Lys1179Asn)	NC_000015.9:g.49040737C>G	VUS	1 lab	b7d8029fab
17:29557943 NF1 G>A	17	29557943	29557943	G	A	NF1	c.3197G>A	NM_000267.3	NP_000258.1:p.(Arg1066Lys)	NC_000017.10:g.29557943G>A	(Likely) pathogenic	1 lab	b7d8d3c5c0
1:152188180 HRNR G>T	1	152188180	152188180	G	T	HRNR	c.5925C>A	NM_001009931.2	NP_001009931.1:p.(Ser1975=)	NC_000001.10:g.152188180G>T	(Likely) benign	1 lab	b7da2e45ab
X:151870190 MAGEA6 A>G	X	151870190	151870190	A	G	MAGEA6	c.880A>G	NM_175868.2	NP_787064.1:p.(Ser294Gly)	NC_000023.10:g.151870190A>G	(Likely) benign	1 lab	b7dab2fdf6
7:143884941 ARHGEF35 T>C	7	143884941	143884941	T	C	ARHGEF35	c.536A>G	NM_001003702.2	NP_001003702.2:p.(Gln179Arg)	NC_000007.13:g.143884941T>C	VUS	1 lab	b7deae1908
17:10428898 MYH2 C>T	17	10428898	10428898	C	T	MYH2	c.4407G>A	NM_001100112.1	NP_001093582.1:p.(Thr1469=)	NC_000017.10:g.10428898C>T	(Likely) benign	1 lab	b7deb03367
3:4730241 ITPR1 C>T	3	4730241	4730241	C	T	ITPR1	c.3738C>T	NM_001099952.2	NP_001093422.2:p.(Cys1246=)	NC_000003.11:g.4730241C>T	(Likely) benign	1 lab	b7e095bda1
3:49759468 GMPPB T>C	3	49759468	49759468	T	C	GMPPB	c.881A>G	NM_013334.3	NP_037466.2:p.(Asp294Gly)	NC_000003.11:g.49759468T>C	(Likely) benign	1 lab	b7e0ac3ab4
17:79898856 MYADML2 G>A	17	79898856	79898856	G	A	MYADML2	c.762C>T	NM_001145113.2	NP_001138585.2:p.(Phe254=)	NC_000017.10:g.79898856G>A	(Likely) benign	1 lab	b7e10a88dc
X:48341150 FTSJ1 G>A	X	48341150	48341150	G	A	FTSJ1	c.919G>A	NM_177439.2	NP_803188.1:p.(Ala307Thr)	NC_000023.10:g.48341150G>A	(Likely) benign	1 lab	b7e15813ed
19:17918772 B3GNT3 A>C	19	17918772	17918772	A	C	B3GNT3	c.156A>C	NM_014256.3	NP_055071.2:p.(Pro52=)	NC_000019.9:g.17918772A>C	(Likely) benign	1 lab	b7e2ae1638
7:142460711 PRSS1 C>T	7	142460711	142460711	C	T	PRSS1	c.592-8C>T	NM_002769.4	NP_002760.1:p.?	NC_000007.13:g.142460711C>T	(Likely) benign	1 lab	b7e4496516
15:49030722 CEP152 A>G	15	49030722	49030722	A	G	CEP152	c.4857T>C	NM_001194998.1	NP_001181927.1:p.(Asp1619=)	NC_000015.9:g.49030722A>G	(Likely) benign	1 lab	b7e63a4369
9:2039761 SMARCA2 ACAACAGCAGCAG>A	9	2039761	2039787	ACAACAGCAGCAG	A	SMARCA2	c.666_677del	NM_003070.5	NP_003061.3:p.(Gln235_Gln238del)	NC_000009.11:g.2039776_2039787del	(Likely) benign	1 lab	b7e6840ca0
1:47746675 STIL C>G	1	47746675	47746675	C	G	STIL	c.1455G>C	NM_001048166.1	NP_001041631.1:p.(Leu485Phe)	NC_000001.10:g.47746675C>G	(Likely) benign	1 lab	b7e98d5d65
17:1637308 WDR81 C>T	17	1637308	1637308	C	T	WDR81	c.4977C>T	NM_001163809.1	NP_001157281.1:p.(Ser1659=)	NC_000017.10:g.1637308C>T	VUS	1 lab	b7ebec13f8
17:29552243 NF1 G>A	17	29552243	29552243	G	A	NF1	c.1976G>A	NM_000267.3	NP_000258.1:p.(Arg659Gln)	NC_000017.10:g.29552243G>A	VUS	1 lab	b7ef364fb8
19:52919762 ZNF528 A>T	19	52919762	52919762	A	T	ZNF528	c.1657A>T	NM_032423.3	NP_115799.2:p.(Lys553Ter)	NC_000019.9:g.52919762A>T	VUS	1 lab	b7ef9e8ac2
X:48676442 HDAC6 C>T	X	48676442	48676442	C	T	HDAC6	c.1926-6C>T	NM_001321226.1	NP_001308155.1:p.?	NC_000023.10:g.48676442C>T	(Likely) benign	1 lab	b7f12c80c1
22:38164164 TRIOBP G>A	22	38164164	38164164	G	A	TRIOBP	c.6556G>A	NM_001039141.2	NP_001034230.1:p.(Gly2186Ser)	NC_000022.10:g.38164164G>A	(Likely) benign	1 lab	b7f1f175ec
6:90661148 BACH2 G>A	6	90661148	90661148	G	A	BACH2	c.677C>T	NM_021813.4	NP_068585.1:p.(Thr226Met)	NC_000006.11:g.90661148G>A	VUS	1 lab	b7f35cb5a0
1:94543269 ABCA4 G>A	1	94543269	94543269	G	A	ABCA4	c.1531C>T	NM_000350.2	NP_000341.2:p.(Arg511Cys)	NC_000001.10:g.94543269G>A	(Likely) pathogenic	1 lab	b7f3c848fa
11:77378297 RSF1 G>A	11	77378297	77378297	G	A	RSF1	c.3991C>T	NM_016578.3	NP_057662.3:p.(Pro1331Ser)	NC_000011.9:g.77378297G>A	(Likely) benign	1 lab	b7f4075d6d
18:67687843 RTTN G>A	18	67687843	67687843	G	A	RTTN	c.6153+8C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67687843G>A	(Likely) benign	1 lab	b7f5899fc0
5:61642937 KIF2A T>C	5	61642937	61642937	T	C	KIF2A	c.65-20T>C	NM_001098511.2	NP_001091981.1:p.?	NC_000005.9:g.61642937T>C	(Likely) benign	1 lab	b7f5a30686
19:38692569 SIPA1L3 C>T	19	38692569	38692569	C	T	SIPA1L3	c.5052C>T	NM_015073.2	NP_055888.1:p.(His1684=)	NC_000019.9:g.38692569C>T	(Likely) benign	1 lab	b7f7c916f8
3:184033341 EIF4G1 A>T	3	184033341	184033341	A	T	EIF4G1	c.-35+8A>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184033341A>T	(Likely) benign	1 lab	b7f7cea21d
2:179430814 TTN T>G	2	179430814	179430814	T	G	TTN	c.80045A>C	NM_001267550.1	NP_001254479.1:p.(Asp26682Ala)	NC_000002.11:g.179430814T>G	VUS	1 lab	b7f8121a18
8:22273678 SLC39A14 C>T	8	22273678	22273678	C	T	SLC39A14	c.1032C>T	NM_001135153.2	NP_001128625.1:p.(Asp344=)	NC_000008.10:g.22273678C>T	(Likely) benign	1 lab	b7f86a907a
11:17532070 USH1C T>A	11	17532070	17532070	T	A	USH1C	c.1414-2A>T	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17532070T>A	VUS	1 lab	dafda717ef
X:69497347 ARR3 C>T	X	69497347	69497347	C	T	ARR3	c.577C>T	NM_004312.2	NP_004303.2:p.(Pro193Ser)	NC_000023.10:g.69497347C>T	(Likely) benign	1 lab	b7f8e8eac5
1:94546128 ABCA4 G>C	1	94546128	94546128	G	C	ABCA4	c.1005C>G	NM_000350.2	NP_000341.2:p.(Leu335=)	NC_000001.10:g.94546128G>C	(Likely) benign	1 lab	b7f9d215c7
16:4828087 SEPTIN12 C>T	16	4828087	4828087	C	T	SEPTIN12	c.875G>A	NM_144605.4	NP_653206.2:p.(Arg292His)	NC_000016.9:g.4828087C>T	VUS	1 lab	b7fa59fa53
5:127713560 FBN2 C>G	5	127713560	127713560	C	G	FBN2	c.1734G>C	NM_001999.3	NP_001990.2:p.(Glu578Asp)	NC_000005.9:g.127713560C>G	VUS	1 lab	b7fb6cd73c
22:40055482 CACNA1I C>T	22	40055482	40055482	C	T	CACNA1I	c.2375C>T	NM_021096.3	NP_066919.2:p.(Thr792Met)	NC_000022.10:g.40055482C>T	VUS	1 lab	b7fb7771fc
X:19425322 MAP3K15 C>T	X	19425322	19425322	C	T	MAP3K15	c.1828G>A	NM_001001671.3	NP_001001671.3:p.(Glu610Lys)	NC_000023.10:g.19425322C>T	VUS	1 lab	b7fe1d4f9d
6:7580824 DSP A>G	6	7580824	7580824	A	G	DSP	c.4401A>G	NM_004415.2	NP_004406.2:p.(Gln1467=)	NC_000006.11:g.7580824A>G	(Likely) benign	1 lab	b7fe7a3659
18:21134723 NPC1 G>A	18	21134723	21134723	G	A	NPC1	c.1552C>T	NM_000271.4	NP_000262.2:p.(Arg518Trp)	NC_000018.9:g.21134723G>A	VUS	1 lab	b7ff4719d3
8:48771101 PRKDC G>C	8	48771101	48771101	G	C	PRKDC	c.6441C>G	NM_006904.6	NP_008835.5:p.(Ala2147=)	NC_000008.10:g.48771101G>C	(Likely) benign	1 lab	b8007843ff
X:24024505 KLHL15 A>C	X	24024505	24024505	A	C	KLHL15	c.306T>G	NM_030624.2	NP_085127.2:p.(His102Gln)	NC_000023.10:g.24024505A>C	(Likely) benign	1 lab	b80599f092
11:6643935 DCHS1 C>T	11	6643935	6643935	C	T	DCHS1				NC_000011.9:g.6643935C>T	(Likely) benign	1 lab	dbbdb1718a
2:239237578 TRAF3IP1 C>T	2	239237578	239237578	C	T	TRAF3IP1	c.510C>T	NM_015650.3	NP_056465.2:p.(Asp170=)	NC_000002.11:g.239237578C>T	(Likely) benign	1 lab	b806d26463
2:99008357 CNGA3 C>T	2	99008357	99008357	C	T	CNGA3	c.597C>T	NM_001298.2	NP_001289.1:p.(Tyr199=)	NC_000002.11:g.99008357C>T	(Likely) benign	1 lab	b806e9d311
6:135787148 AHI1 C>A	6	135787148	135787148	C	A	AHI1	c.553G>T	NM_001134831.1	NP_001128303.1:p.(Asp185Tyr)	NC_000006.11:g.135787148C>A	VUS	1 lab	b80cef6370
X:49093663 CCDC22 G>C	X	49093663	49093663	G	C	CCDC22	c.161G>C	NM_014008.4	NP_054727.1:p.(Ser54Thr)	NC_000023.10:g.49093663G>C	(Likely) benign	1 lab	b80e2e1e44
15:85400220 ALPK3 C>T	15	85400220	85400220	C	T	ALPK3	c.2857C>T	NM_020778.4	NP_065829.3:p.(Leu953=)	NC_000015.9:g.85400220C>T	(Likely) benign	1 lab	b80f3fd719
1:39750852 MACF1 G>A	1	39750852	39750852	G	A	MACF1	c.1244G>A	NM_012090.5	NP_036222.3:p.(Arg415Gln)	NC_000001.10:g.39750852G>A	VUS	1 lab	b80ff0954e
9:133962970 LAMC3 G>A	9	133962970	133962970	G	A	LAMC3	c.4338G>A	NM_006059.3	NP_006050.3:p.(Ala1446=)	NC_000009.11:g.133962970G>A	(Likely) benign	1 lab	b810066886
6:152529346 SYNE1 T>C	6	152529346	152529346	T	C	SYNE1	c.22590-5A>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152529346T>C	(Likely) benign	1 lab	b814e43216
17:17124943 FLCN C>G	17	17124943	17124943	C	G	FLCN	c.780-1G>C	NM_144997.5	NP_659434.2:p.?	NC_000017.10:g.17124943C>G	(Likely) pathogenic	1 lab	b8153b09af
20:21117104 KIZ C>T	20	21117104	21117104	C	T	KIZ	c.226C>T	NM_018474.5	NP_060944.3:p.(Arg76Ter)	NC_000020.10:g.21117104C>T	(Likely) pathogenic	1 lab	b81626084b
7:103191670 RELN G>A	7	103191670	103191670	G	A	RELN	c.6146C>T	NM_005045.3	NP_005036.2:p.(Ala2049Val)	NC_000007.13:g.103191670G>A	VUS	1 lab	b816b39a47
X:153640418 TAFAZZIN GC>G	X	153640418	153640420	GC	G	TAFAZZIN	c.110-3del	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153640420del	(Likely) benign	1 lab	b817ac2767
17:76446858 DNAH17 C>A	17	76446858	76446858	C	A	DNAH17	c.10805G>T	NM_173628.3	NP_775899.3:p.(Arg3602Leu)	NC_000017.10:g.76446858C>A	VUS	1 lab	b8196c74cc
9:3937092 GLIS3 C>T	9	3937092	3937092	C	T	GLIS3	c.1808G>A	NM_001042413.1	NP_001035878.1:p.(Gly603Asp)	NC_000009.11:g.3937092C>T	VUS	1 lab	b81a0d6b17
7:114270015 FOXP2 A>G	7	114270015	114270015	A	G	FOXP2	c.627A>G	NM_148898.3	NP_683696.2:p.(Gln209=)	NC_000007.13:g.114270015A>G	(Likely) benign	1 lab	b81a78eca5
3:197544082 LRCH3 G>A	3	197544082	197544082	G	A	LRCH3	c.443G>A	NM_032773.3	NP_116162.1:p.(Cys148Tyr)	NC_000003.11:g.197544082G>A	VUS	1 lab	b81b94446a
7:5352730 TNRC18 C>G	7	5352730	5352730	C	G	TNRC18	c.7792G>C	NM_001080495.2	NP_001073964.2:p.(Gly2598Arg)	NC_000007.13:g.5352730C>G	VUS	1 lab	b81de22273
1:116666937 MAB21L3 G>A	1	116666937	116666937	G	A	MAB21L3	c.440G>A	NM_152367.2	NP_689580.2:p.(Arg147Gln)	NC_000001.10:g.116666937G>A	VUS	1 lab	b81e3ca791
7:103629641 RELN C>T	7	103629641	103629641	C	T	RELN	c.163G>A	NM_005045.3	NP_005036.2:p.(Val55Met)	NC_000007.13:g.103629641C>T	VUS	1 lab	b81f236bfa
X:24732735 POLA1 G>A	X	24732735	24732735	G	A	POLA1	c.411G>A	NM_001330360.1	NP_001317289.1:p.(Pro137=)	NC_000023.10:g.24732735G>A	(Likely) benign	1 lab	b81fa03796
14:58738566 PSMA3 C>T	14	58738566	58738566	C	T	PSMA3	c.703-3C>T	NM_152132.2	NP_687033.1:p.?	NC_000014.8:g.58738566C>T	(Likely) benign	1 lab	b8223ffd6a
10:93601163 TNKS2 A>C	10	93601163	93601163	A	C	TNKS2	c.1797A>C	NM_025235.4	NP_079511.1:p.(Ala599=)	NC_000010.10:g.93601163A>C	(Likely) benign	1 lab	b822e39167
16:48180284 ABCC12 G>A	16	48180284	48180284	G	A	ABCC12	c.52C>T	NM_033226.2	NP_150229.2:p.(Arg18Trp)	NC_000016.9:g.48180284G>A	VUS	1 lab	b822f8fba8
13:25473549 CPAP T>C	13	25473549	25473549	T	C	CPAP	c.2991+8A>G	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25473549T>C	(Likely) benign	1 lab	b8230be6e5
17:29541555 NF1 C>G	17	29541555	29541555	C	G	NF1	c.1479C>G	NM_000267.3	NP_000258.1:p.(Leu493=)	NC_000017.10:g.29541555C>G	(Likely) benign	1 lab	b82350dfb4
1:149761865 FCGR1A G>A	1	149761865	149761865	G	A	FCGR1A	c.815G>A	NM_000566.3	NP_000557.1:p.(Arg272His)	NC_000001.10:g.149761865G>A	(Likely) benign	1 lab	b82415a16e
8:104924330 RIMS2 G>A	8	104924330	104924330	G	A	RIMS2	c.1742G>A	NM_001100117.2	NP_001093587.1:p.(Arg581His)	NC_000008.10:g.104924330G>A	VUS	1 lab	b82468c526
19:10665970 MISSING C>T	19	10665970	10665970	C	T	MISSING				NC_000019.9:g.10665970C>T	VUS	1 lab	b8247b9f1b
X:41057999 USP9X A>T	X	41057999	41057999	A	T	USP9X	c.4599A>T	NM_001039590.2	NP_001034679.2:p.(Ile1533=)	NC_000023.10:g.41057999A>T	(Likely) benign	1 lab	b826f9e7a8
X:152482817 MAGEA1 G>A	X	152482817	152482817	G	A	MAGEA1	c.194C>T	NM_004988.4	NP_004979.3:p.(Pro65Leu)	NC_000023.10:g.152482817G>A	(Likely) benign	1 lab	b8272e7ba5
1:19549993 EMC1 C>G	1	19549993	19549993	C	G	EMC1	c.2273G>C	NM_015047.2	NP_055862.1:p.(Gly758Ala)	NC_000001.10:g.19549993C>G	VUS	1 lab	b82767588f
1:984247 AGRN T>G	1	984247	984247	T	G	AGRN				NC_000001.10:g.984247T>G	(Likely) benign	1 lab	dbfd06b6f2
X:107417667 COL4A6 T>C	X	107417667	107417667	T	C	COL4A6	c.3189+3A>G	NM_001287758.1	NP_001274687.1:p.?	NC_000023.10:g.107417667T>C	VUS	1 lab	b82f1cbb36
16:2098635 TSC2 A>T	16	2098635	2098635	A	T	TSC2	c.19A>T	NM_000548.3	NP_000539.2:p.(Lys7Ter)	NC_000016.9:g.2098635A>T	(Likely) pathogenic	1 lab	b82fc34db7
5:13931366 DNAH5 A>G	5	13931366	13931366	A	G	DNAH5	c.58-13T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13931366A>G	(Likely) benign	1 lab	b830b7cbe0
11:8060565 TUB C>T	11	8060565	8060565	C	T	TUB	c.145C>T	NM_003320.4	NP_003311.2:p.(Arg49Ter)	NC_000011.9:g.8060565C>T	(Likely) pathogenic	1 lab	b830cdab4f
12:124257437 DNAH10 T>C	12	124257437	124257437	T	C	DNAH10	c.270T>C	NM_207437.3	NP_997320.2:p.(Leu90=)	NC_000012.11:g.124257437T>C	(Likely) benign	1 lab	b831e434ad
19:50302198 AP2A1 C>T	19	50302198	50302198	C	T	AP2A1	c.954C>T	NM_014203.2	NP_055018.2:p.(Ile318=)	NC_000019.9:g.50302198C>T	(Likely) benign	1 lab	b833ee22c9
X:153589789 FLNA G>A	X	153589789	153589789	G	A	FLNA	c.3094C>T	NM_001110556.2	NP_001104026.1:p.(Arg1032Cys)	NC_000023.10:g.153589789G>A	VUS	1 lab	b834fd0237
X:107976134 IRS4 G>A	X	107976134	107976134	G	A	IRS4	c.3441C>T	NM_003604.2	NP_003595.1:p.(Gly1147=)	NC_000023.10:g.107976134G>A	(Likely) benign	1 lab	b837593ed3
12:9355206 PZP C>T	12	9355206	9355206	C	T	PZP	c.342G>A	NM_002864.2	NP_002855.2:p.(Arg114=)	NC_000012.11:g.9355206C>T	(Likely) benign	1 lab	b8396ccf0e
14:105423804 AHNAK2 C>T	14	105423804	105423804	C	T	AHNAK2	c.156G>A	NM_138420.3	NP_612429.2:p.(Pro52=)	NC_000014.8:g.105423804C>T	(Likely) benign	1 lab	b83ba7b5b0
3:49879915 TRAIP C>T	3	49879915	49879915	C	T	TRAIP	c.474G>A	NM_005879.2	NP_005870.2:p.(Arg158=)	NC_000003.11:g.49879915C>T	(Likely) benign	1 lab	b8416334fd
6:24495354 ALDH5A1 C>G	6	24495354	24495354	C	G	ALDH5A1	c.130C>G	NM_170740.1	NP_733936.1:p.(Leu44Val)	NC_000006.11:g.24495354C>G	(Likely) benign	1 lab	b8417e0473
X:39934357 BCOR C>T	X	39934357	39934357	C	T	BCOR	c.242G>A	NM_001123385.1	NP_001116857.1:p.(Gly81Glu)	NC_000023.10:g.39934357C>T	VUS	1 lab	b841c4f83e
1:145563082 ANKRD35 C>T	1	145563082	145563082	C	T	ANKRD35	c.2770C>T	NM_144698.5	NP_653299.4:p.(Arg924Ter)	NC_000001.10:g.145563082C>T	VUS	1 lab	b842ed4594
16:29824959 PRRT2 G>A	16	29824959	29824959	G	A	PRRT2	c.584G>A	NM_001256443.1	NP_001243372.1:p.(Gly195Asp)	NC_000016.9:g.29824959G>A	VUS	1 lab	b8436b0bb0
8:10470627 RP1L1 G>A	8	10470627	10470627	G	A	RP1L1	c.981C>T	NM_178857.5	NP_849188.4:p.(Val327=)	NC_000008.10:g.10470627G>A	(Likely) benign	1 lab	b843a89b4e
2:25565298 DNMT3A C>A	2	25565298	25565298	C	A	DNMT3A	c.-178+1G>T	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25565298C>A	VUS	1 lab	b844113c9e
X:151935628 MAGEA3 G>A	X	151935628	151935628	G	A	MAGEA3	c.539C>T	NM_005362.3	NP_005353.1:p.(Thr180Ile)	NC_000023.10:g.151935628G>A	(Likely) benign	1 lab	b844c74a47
X:153219822 HCFC1 C>T	X	153219822	153219822	C	T	HCFC1	c.4028G>A	NM_005334.2	NP_005325.2:p.(Gly1343Asp)	NC_000023.10:g.153219822C>T	(Likely) benign	1 lab	b844e1fd8d
11:1269436 MUC5B G>T	11	1269436	1269436	G	T	MUC5B	c.11326G>T	NM_002458.2	NP_002449.2:p.(Ala3776Ser)	NC_000011.9:g.1269436G>T	(Likely) benign	1 lab	b846837c8e
19:9069693 MUC16 G>C	19	9069693	9069693	G	C	MUC16	c.17753C>G	NM_024690.2	NP_078966.2:p.(Pro5918Arg)	NC_000019.9:g.9069693G>C	VUS	1 lab	b84752c5ef
11:55371243 OR4C11 C>A	11	55371243	55371243	C	A	OR4C11	c.607G>T	NM_001004700.2	NP_001004700.2:p.(Ala203Ser)	NC_000011.9:g.55371243C>A	(Likely) benign	1 lab	b8478ed432
16:2155908 PKD1 G>A	16	2155908	2155908	G	A	PKD1	c.7821C>T	NM_001009944.2	NP_001009944.2:p.(His2607=)	NC_000016.9:g.2155908G>A	(Likely) benign	1 lab	b847f28d4c
1:55247311 TTC22 C>G	1	55247311	55247311	C	G	TTC22	c.1315G>C	NM_001114108.1	NP_001107580.1:p.(Gly439Arg)	NC_000001.10:g.55247311C>G	VUS	1 lab	b8486729e2
8:145002067 PLEC C>T	8	145002067	145002067	C	T	PLEC	c.3765G>A	NM_201380.3	NP_958782.1:p.(Val1255=)	NC_000008.10:g.145002067C>T	(Likely) benign	1 lab	b848861646
15:67358676 SMAD3 A>C	15	67358676	67358676	A	C	SMAD3	c.184A>C	NM_005902.3	NP_005893.1:p.(Thr62Pro)	NC_000015.9:g.67358676A>C	VUS	1 lab	b849bfc69c
2:179523061 TTN A>T	2	179523061	179523061	A	T	TTN	c.37649T>A	NM_001267550.1	NP_001254479.1:p.(Val12550Asp)	NC_000002.11:g.179523061A>T	VUS	1 lab	b84ac143f2
2:96949358 SNRNP200 T>C	2	96949358	96949358	T	C	SNRNP200	c.4678A>G	NM_014014.4	NP_054733.2:p.(Ile1560Val)	NC_000002.11:g.96949358T>C	VUS	1 lab	b84ba4ae3f
13:52518272 ATP7B G>A	13	52518272	52518272	G	A	ATP7B	c.3216C>T	NM_000053.3	NP_000044.2:p.(Gly1072=)	NC_000013.10:g.52518272G>A	(Likely) benign	1 lab	b84c39b7a0
X:73641473 SLC16A2 A>T	X	73641473	73641473	A	T	SLC16A2	c.1A>T	NM_006517.4	NP_006508.2:p.(Met1?)	NC_000023.10:g.73641473A>T	VUS	1 lab	b850b921ff
6:3154352 TUBB2A C>T	6	3154352	3154352	C	T	TUBB2A	c.828G>A	NM_001310315.1	NP_001297244.1:p.(Leu276=)	NC_000006.11:g.3154352C>T	(Likely) benign	1 lab	b85173596d
8:142367052 GPR20 G>A	8	142367052	142367052	G	A	GPR20	c.972C>T	NM_005293.2	NP_005284.2:p.(Asp324=)	NC_000008.10:g.142367052G>A	(Likely) benign	1 lab	b85320c743
19:56466040 NLRP8 G>A	19	56466040	56466040	G	A	NLRP8	c.616G>A	NM_176811.2	NP_789781.2:p.(Val206Met)	NC_000019.9:g.56466040G>A	VUS	1 lab	b85560ba6b
15:32690781 GOLGA8K G>C	15	32690781	32690781	G	C	GOLGA8K	c.571C>G	NM_001282493.1	NP_001269422.1:p.(Gln191Glu)	NC_000015.9:g.32690781G>C	(Likely) benign	1 lab	b85610d82e
12:88481664 CEP290 G>A	12	88481664	88481664	G	A	CEP290	c.4087C>T	NM_025114.3	NP_079390.3:p.(Arg1363Trp)	NC_000012.11:g.88481664G>A	VUS	1 lab	b8564e498a
19:36593925 WDR62 C>A	19	36593925	36593925	C	A	WDR62	c.3411C>A	NM_001083961.1	NP_001077430.1:p.(Gly1137=)	NC_000019.9:g.36593925C>A	(Likely) benign	1 lab	b8577b7d1f
X:153558014 TKTL1 C>T	X	153558014	153558014	C	T	TKTL1	c.1767C>T	NM_012253.3	NP_036385.3:p.(Ala589=)	NC_000023.10:g.153558014C>T	(Likely) benign	1 lab	b8581509cd
2:178879055 PDE11A C>T	2	178879055	178879055	C	T	PDE11A	c.1045G>A	NM_016953.4	NP_058649.3:p.(Ala349Thr)	NC_000002.11:g.178879055C>T	(Likely) benign	1 lab	b8583e3259
14:20020025 POTEM G>A	14	20020025	20020025	G	A	POTEM	c.196C>T	NM_001145442.1	NP_001138914.1:p.(Arg66Cys)	NC_000014.8:g.20020025G>A	(Likely) benign	1 lab	b858f55c02
2:167055645 SCN9A C>T	2	167055645	167055645	C	T	SCN9A	c.5471G>A	NM_002977.3	NP_002968.1:p.(Arg1824Gln)	NC_000002.11:g.167055645C>T	VUS	1 lab	b859427725
1:205888028 SLC26A9 G>A	1	205888028	205888028	G	A	SLC26A9	c.2196C>T	NM_052934.4	NP_443166.1:p.(Asp732=)	NC_000001.10:g.205888028G>A	(Likely) benign	1 lab	b859a186fa
3:49137627 QARS1 A>C	3	49137627	49137627	A	C	QARS1	c.1160T>G	NM_005051.2	NP_005042.1:p.(Phe387Cys)	NC_000003.11:g.49137627A>C	VUS	1 lab	b85b44793f
20:50408320 SALL4 C>T	20	50408320	50408320	C	T	SALL4	c.702G>A	NM_001318031.1	NP_001304960.1:p.(Gln234=)	NC_000020.10:g.50408320C>T	(Likely) benign	1 lab	b85b7cc307
5:82815696 VCAN G>A	5	82815696	82815696	G	A	VCAN	c.1571G>A	NM_004385.4	NP_004376.2:p.(Arg524Lys)	NC_000005.9:g.82815696G>A	(Likely) benign	1 lab	b85c650945
2:96951002 SNRNP200 T>A	2	96951002	96951002	T	A	SNRNP200	c.4080A>T	NM_014014.4	NP_054733.2:p.(Ala1360=)	NC_000002.11:g.96951002T>A	(Likely) benign	1 lab	b862375e05
14:21623368 MISSING G>C	14	21623368	21623368	G	C	MISSING				NC_000014.8:g.21623368G>C	(Likely) benign	1 lab	b863bdda64
3:148712058 GYG1 C>G	3	148712058	148712058	C	G	GYG1	c.137C>G	NM_004130.3	NP_004121.2:p.(Ser46Cys)	NC_000003.11:g.148712058C>G	(Likely) benign	1 lab	b8658b8d6f
11:126162682 TIRAP C>T	11	126162682	126162682	C	T	TIRAP	c.378C>T	NM_001039661.1	NP_001034750.1:p.(Gly126=)	NC_000011.9:g.126162682C>T	(Likely) benign	1 lab	b8699db79d
4:113482065 ZGRF1 T>C	4	113482065	113482065	T	C	ZGRF1	c.4784A>G	NM_018392.4	NP_060862.3:p.(Glu1595Gly)	NC_000004.11:g.113482065T>C	(Likely) benign	1 lab	b869bcae52
1:236978915 MTR T>G	1	236978915	236978915	T	G	MTR	c.621T>G	NM_000254.2	NP_000245.2:p.(Phe207Leu)	NC_000001.10:g.236978915T>G	VUS	1 lab	b86a877ec0
X:53561546 HUWE1 C>T	X	53561546	53561546	C	T	HUWE1	c.12762G>A	NM_031407.6	NP_113584.3:p.(Leu4254=)	NC_000023.10:g.53561546C>T	(Likely) benign	1 lab	b86b66f2da
2:1544461 TPO C>CACCGCAGCGG	2	1544461	1544471	C	CACCGCAGCGG	TPO	c.2715_2724dup	NM_000547.5	NP_000538.3:p.(Ala909ThrfsTer75)	NC_000002.11:g.1544462_1544471dup	VUS	1 lab	b86db58ca0
2:228149028 COL4A3 G>A	2	228149028	228149028	G	A	COL4A3	c.2848G>A	NM_000091.4	NP_000082.2:p.(Val950Ile)	NC_000002.11:g.228149028G>A	VUS	1 lab	b86db6d425
2:116447309 DPP10 A>G	2	116447309	116447309	A	G	DPP10	c.539A>G	NM_001321905.1	NP_001308834.1:p.(His180Arg)	NC_000002.11:g.116447309A>G	VUS	1 lab	b86f1aeea6
2:238250725 COL6A3 G>A	2	238250725	238250725	G	A	COL6A3	c.7748C>T	NM_004369.3	NP_004360.2:p.(Thr2583Met)	NC_000002.11:g.238250725G>A	VUS	1 lab	b8709d755f
7:129297314 NRF1 T>C	7	129297314	129297314	T	C	NRF1	c.123T>C	NM_001293163.1	NP_001280092.1:p.(Asp41=)	NC_000007.13:g.129297314T>C	(Likely) benign	1 lab	b872d4acbc
16:27642425 KATNIP C>T	16	27642425	27642425	C	T	KATNIP	c.350C>T	NM_015202.3	NP_056017.3:p.(Ala117Val)	NC_000016.9:g.27642425C>T	(Likely) benign	1 lab	b87333bb01
22:24891453 UPB1 G>A	22	24891453	24891453	G	A	UPB1	c.82G>A	NM_016327.2	NP_057411.1:p.(Val28Ile)	NC_000022.10:g.24891453G>A	(Likely) benign	1 lab	b87492ff53
7:148112633 CNTNAP2 G>A	7	148112633	148112633	G	A	CNTNAP2	c.3921G>A	NM_014141.5	NP_054860.1:p.(Ala1307=)	NC_000007.13:g.148112633G>A	(Likely) benign	1 lab	b87535f81f
16:21764367 OTOA G>A	16	21764367	21764367	G	A	OTOA	c.3075G>A	NM_144672.4	NP_653273.3:p.(Glu1025=)	NC_000016.9:g.21764367G>A	(Likely) benign	1 lab	b8759b2048
19:15295769 NOTCH3 G>A	19	15295769	15295769	G	A	NOTCH3	c.2358C>T	NM_000435.2	NP_000426.2:p.(Cys786=)	NC_000019.9:g.15295769G>A	VUS	1 lab	b8768a3ff9
16:71052311 HYDIN A>G	16	71052311	71052311	A	G	HYDIN	c.3365T>C	NM_001270974.2	NP_001257903.1:p.(Leu1122Pro)	NC_000016.9:g.71052311A>G	VUS	1 lab	b87709d9e7
4:158283942 GRIA2 A>G	4	158283942	158283942	A	G	GRIA2	c.2407-9A>G	NM_000826.3	NP_000817.2:p.?	NC_000004.11:g.158283942A>G	(Likely) benign	1 lab	b877277d10
14:88407864 GALC G>C	14	88407864	88407864	G	C	GALC	c.1709C>G	NM_000153.3	NP_000144.2:p.(Thr570Ser)	NC_000014.8:g.88407864G>C	(Likely) benign	1 lab	b877e18be4
X:99662044 PCDH19 G>A	X	99662044	99662044	G	A	PCDH19	c.1552C>T	NM_001184880.1	NP_001171809.1:p.(Leu518=)	NC_000023.10:g.99662044G>A	(Likely) benign	1 lab	b878168461
18:48575690 SMAD4 T>TA	18	48575690	48575692	T	TA	SMAD4	c.452dup	NM_005359.5	NP_005350.1:p.(Asn151LysfsTer11)	NC_000018.9:g.48575692dup	(Likely) pathogenic	1 lab	b87b8e43f9
2:1652488 PXDN C>T	2	1652488	1652488	C	T	PXDN	c.3064G>A	NM_012293.2	NP_036425.1:p.(Val1022Met)	NC_000002.11:g.1652488C>T	(Likely) benign	1 lab	b87e443547
15:64067043 HERC1 T>C	15	64067043	64067043	T	C	HERC1	c.780A>G	NM_003922.3	NP_003913.3:p.(Ser260=)	NC_000015.9:g.64067043T>C	(Likely) benign	1 lab	b87e53d257
1:171605270 MYOC T>C	1	171605270	171605270	T	C	MYOC	c.1310A>G	NM_000261.1	NP_000252.1:p.(Tyr437Cys)	NC_000001.10:g.171605270T>C	VUS	1 lab	b87e85d54e
20:478391 CSNK2A1 G>A	20	478391	478391	G	A	CSNK2A1	c.400C>T	NM_177559.2	NP_808227.1:p.(Arg134Ter)	NC_000020.10:g.478391G>A	VUS	1 lab	b87f384243
X:57162697 SPIN2A CAGAA>C	X	57162697	57162705	CAGAA	C	SPIN2A	c.330_333del	NM_019003.5	NP_061876.3:p.(Ser111ThrfsTer17)	NC_000023.10:g.57162702_57162705del	VUS	1 lab	b87f79ae11
3:4712623 ITPR1 C>T	3	4712623	4712623	C	T	ITPR1	c.2204+13C>T	NM_001099952.2	NP_001093422.2:p.?	NC_000003.11:g.4712623C>T	(Likely) benign	1 lab	b880e9b255
17:79954349 ASPSCR1 C>T	17	79954349	79954349	C	T	ASPSCR1	c.560C>T	NM_001251888.1	NP_001238817.1:p.(Ser187Leu)	NC_000017.10:g.79954349C>T	(Likely) benign	1 lab	b88164ccf1
2:179480442 TTN A>ACT	2	179480442	179480444	A	ACT	TTN	c.48384_48385dup	NM_001267550.1	NP_001254479.1:p.(Val16129GlufsTer20)	NC_000002.11:g.179480443_179480444dup	(Likely) pathogenic	1 lab	b882cfb0ef
9:131709424 DOLK G>C	9	131709424	131709424	G	C	DOLK	c.159C>G	NM_014908.3	NP_055723.1:p.(Ala53=)	NC_000009.11:g.131709424G>C	(Likely) benign	1 lab	b8832bab0c
X:153032648 PLXNB3 G>A	X	153032648	153032648	G	A	PLXNB3	c.435G>A	NM_001163257.1	NP_001156729.1:p.(Val145=)	NC_000023.10:g.153032648G>A	(Likely) benign	1 lab	b883e68986
19:17952592 JAK3 C>T	19	17952592	17952592	C	T	JAK3	c.862-21G>A	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17952592C>T	(Likely) benign	1 lab	b88590243f
1:151384228 POGZ G>A	1	151384228	151384228	G	A	POGZ	c.1799C>T	NM_015100.3	NP_055915.2:p.(Ser600Leu)	NC_000001.10:g.151384228G>A	VUS	1 lab	b886167370
1:5987806 NPHP4 C>T	1	5987806	5987806	C	T	NPHP4	c.1344G>A	NM_015102.4	NP_055917.1:p.(Ser448=)	NC_000001.10:g.5987806C>T	(Likely) benign	1 lab	b8890704e2
9:5335405 RLN1 T>C	9	5335405	5335405	T	C	RLN1	c.404A>G	NM_006911.4	NP_008842.1:p.(Asn135Ser)	NC_000009.11:g.5335405T>C	(Likely) benign	1 lab	b88abcd37b
5:149500455 PDGFRB C>T	5	149500455	149500455	C	T	PDGFRB	c.2582G>A	NM_002609.3	NP_002600.1:p.(Gly861Asp)	NC_000005.9:g.149500455C>T	VUS	1 lab	b88e534888
3:122215403 KPNA1 G>A	3	122215403	122215403	G	A	KPNA1	c.10C>T	NM_002264.4	NP_002255.3:p.(Pro4Ser)	NC_000003.11:g.122215403G>A	VUS	1 lab	b8909ce93f
15:67358539 SMAD3 TGGGCTGGAAGAA>T	15	67358539	67358555	TGGGCTGGAAGAA	T	SMAD3	c.52_63del	NM_005902.4	NP_005893.1:p.(Trp18_Gly21del)	NC_000015.9:g.67358544_67358555del	VUS	1 lab	b8914501fc
19:50792869 MYH14 G>T	19	50792869	50792869	G	T	MYH14	c.4929G>T	NM_001145809.1	NP_001139281.1:p.(Glu1643Asp)	NC_000019.9:g.50792869G>T	VUS	1 lab	b892858fe6
3:112188649 BTLA T>C	3	112188649	112188649	T	C	BTLA	c.550A>G	NM_181780.4	NP_861445.4:p.(Lys184Glu)	NC_000003.11:g.112188649T>C	(Likely) benign	1 lab	b893f9f9c4
20:60895634 LAMA5 G>A	20	60895634	60895634	G	A	LAMA5	c.6740C>T	NM_005560.4	NP_005551.3:p.(Ala2247Val)	NC_000020.10:g.60895634G>A	VUS	1 lab	b894d610d6
2:216214346 ATIC G>T	2	216214346	216214346	G	T	ATIC	c.1747G>T	NM_004044.6	NP_004035.2:p.(Ala583Ser)	NC_000002.11:g.216214346G>T	VUS	1 lab	b89619fa19
6:137219298 PEX7 G>T	6	137219298	137219298	G	T	PEX7	c.822G>T	NM_000288.3	NP_000279.1:p.(Lys274Asn)	NC_000006.11:g.137219298G>T	(Likely) benign	1 lab	b896cc4ed7
X:131212294 FRMD7 T>C	X	131212294	131212294	T	C	FRMD7	c.1751A>G	NM_194277.2	NP_919253.1:p.(Glu584Gly)	NC_000023.10:g.131212294T>C	(Likely) benign	1 lab	b899c5cc72
1:183559414 NCF2 C>T	1	183559414	183559414	C	T	NCF2	c.51G>A	NM_000433.3	NP_000424.2:p.(Ala17=)	NC_000001.10:g.183559414C>T	(Likely) benign	1 lab	b89e877874
X:47426095 ARAF C>G	X	47426095	47426095	C	G	ARAF	c.624C>G	NM_001256196.1	NP_001243125.1:p.(Ala208=)	NC_000023.10:g.47426095C>G	(Likely) benign	1 lab	b89efa6c37
6:116950734 RSPH4A G>A	6	116950734	116950734	G	A	RSPH4A	c.1667G>A	NM_001010892.2	NP_001010892.1:p.(Arg556His)	NC_000006.11:g.116950734G>A	(Likely) benign	1 lab	b89f5793a9
14:103336614 TRAF3 A>C	14	103336614	103336614	A	C	TRAF3	c.76A>C	NM_145725.2	NP_663777.1:p.(Ser26Arg)	NC_000014.8:g.103336614A>C	(Likely) benign	1 lab	b89fe43675
10:16930410 CUBN A>G	10	16930410	16930410	A	G	CUBN	c.8905+6T>C	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16930410A>G	(Likely) benign	1 lab	b8a0e32066
10:46322037 AGAP4 T>C	10	46322037	46322037	T	C	AGAP4	c.1063A>G	NM_001291379.1	NP_001278308.1:p.(Lys355Glu)	NC_000010.10:g.46322037T>C	(Likely) benign	1 lab	b8a0edcc9d
21:34012083 SYNJ1 G>A	21	34012083	34012083	G	A	SYNJ1	c.3712C>T	NM_203446.2	NP_982271.2:p.(Pro1238Ser)	NC_000021.8:g.34012083G>A	VUS	1 lab	b8a118c6f0
16:16251580 ABCC6 G>A	16	16251580	16251580	G	A	ABCC6	c.3822C>T	NM_001171.5	NP_001162.4:p.(Tyr1274=)	NC_000016.9:g.16251580G>A	(Likely) benign	1 lab	b8a1283242
4:16024971 PROM1 A>C	4	16024971	16024971	A	C	PROM1	c.735T>G	NM_001145847.1	NP_001139319.1:p.(Asp245Glu)	NC_000004.11:g.16024971A>C	(Likely) benign	1 lab	b8a167c7d3
15:100537664 ADAMTS17 G>A	15	100537664	100537664	G	A	ADAMTS17	c.2722C>T	NM_139057.3	NP_620688.2:p.(Pro908Ser)	NC_000015.9:g.100537664G>A	(Likely) benign	1 lab	b8a23bcaeb
17:77758234 CBX2 A>G	17	77758234	77758234	A	G	CBX2	c.992A>G	NM_005189.2	NP_005180.1:p.(His331Arg)	NC_000017.10:g.77758234A>G	VUS	1 lab	b8a40f5482
16:16276430 ABCC6 C>T	16	16276430	16276430	C	T	ABCC6	c.1744G>A	NM_001351800.1	NP_001338729.1:p.(Val582Met)	NC_000016.9:g.16276430C>T	VUS	1 lab	b8a43cae2d
1:158607963 SPTA1 C>A	1	158607963	158607963	C	A	SPTA1	c.5049G>T	NM_003126.3	NP_003117.2:p.(Gln1683His)	NC_000001.10:g.158607963C>A	VUS	1 lab	b8a52d9d50
15:74473715 STRA6 G>T	15	74473715	74473715	G	T	STRA6	c.1722C>A	NM_001199042.1	NP_001185971.1:p.(Leu574=)	NC_000015.9:g.74473715G>T	(Likely) benign	1 lab	b8a5473f39
3:42567436 VIPR1 C>T	3	42567436	42567436	C	T	VIPR1	c.227C>T	NM_001251882.1	NP_001238811.1:p.(Pro76Leu)	NC_000003.11:g.42567436C>T	VUS	1 lab	b8a54cc927
3:37058999 MLH1 C>G	3	37058999	37058999	C	G	MLH1	c.793C>G	NM_000249.3	NP_000240.1:p.(Arg265Gly)	NC_000003.11:g.37058999C>G	VUS	1 lab	b8a5e70910
10:27822668 RAB18 T>C	10	27822668	27822668	T	C	RAB18	c.351T>C	NM_001256410.1	NP_001243339.1:p.(Tyr117=)	NC_000010.10:g.27822668T>C	(Likely) benign	1 lab	b8a7061f3c
1:235914580 LYST G>A	1	235914580	235914580	G	A	LYST	c.7710C>T	NM_001301365.1	NP_001288294.1:p.(Asn2570=)	NC_000001.10:g.235914580G>A	(Likely) benign	1 lab	b8a893116d
12:57975217 KIF5A C>A	12	57975217	57975217	C	A	KIF5A	c.2775C>A	NM_004984.3	NP_004975.2:p.(Gly925=)	NC_000012.11:g.57975217C>A	(Likely) benign	1 lab	b8aaf26348
4:123664749 BBS12 T>C	4	123664749	123664749	T	C	BBS12	c.1702T>C	NM_001178007.1	NP_001171478.1:p.(Trp568Arg)	NC_000004.11:g.123664749T>C	(Likely) benign	1 lab	b8accbf23f
X:44109666 EFHC2 C>T	X	44109666	44109666	C	T	EFHC2	c.632G>A	NM_025184.3	NP_079460.2:p.(Arg211His)	NC_000023.10:g.44109666C>T	(Likely) benign	1 lab	b8ada80734
1:183559352 NCF2 C>T	1	183559352	183559352	C	T	NCF2	c.113G>A	NM_000433.3	NP_000424.2:p.(Arg38Gln)	NC_000001.10:g.183559352C>T	VUS	1 lab	b8ae863ea7
20:31023059 ASXL1 A>T	20	31023059	31023059	A	T	ASXL1	c.2544A>T	NM_015338.5	NP_056153.2:p.(Thr848=)	NC_000020.10:g.31023059A>T	(Likely) benign	1 lab	b8aeb5e830
X:66863230 AR C>G	X	66863230	66863230	C	G	AR	c.153C>G	NM_001011645.3	NP_001011645.1:p.(Phe51Leu)	NC_000023.10:g.66863230C>G	(Likely) pathogenic	1 lab	b8b14694a6
16:2126176 TSC2 G>A	16	2126176	2126176	G	A	TSC2	c.2742+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126176G>A	(Likely) pathogenic	1 lab	b8b1ecf5d8
20:25289090 ABHD12 C>T	20	25289090	25289090	C	T	ABHD12	c.787+3G>A	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25289090C>T	(Likely) benign	1 lab	b8b2bba71c
17:78082294 GAA C>T	17	78082294	78082294	C	T	GAA	c.1082C>T	NM_000152.3	NP_000143.2:p.(Pro361Leu)	NC_000017.10:g.78082294C>T	(Likely) pathogenic	1 lab	b8b4218e18
2:74701748 CCDC142 A>G	2	74701748	74701748	A	G	CCDC142	c.2157T>C	NM_032779.3	NP_116168.3:p.(Leu719=)	NC_000002.11:g.74701748A>G	(Likely) benign	1 lab	b8b51b11ac
13:86369741 SLITRK6 C>T	13	86369741	86369741	C	T	SLITRK6	c.903G>A	NM_032229.3	NP_115605.2:p.(Thr301=)	NC_000013.10:g.86369741C>T	(Likely) benign	1 lab	b8b78cb56b
5:121409868 LOX A>G	5	121409868	121409868	A	G	LOX	c.879-4T>C	NM_002317.6	NP_002308.2:p.?	NC_000005.9:g.121409868A>G	(Likely) benign	1 lab	b8b7d6fdcb
1:33476431 AK2 T>TAGGCTGAAATAGAGAGGAAACAAGAGAGAACAAAATGGGTTTTTAAAAACCAAGTACATATCAGAGGAGGCTGGCATGTAAGCCCCAGCAACCAAATGCATTAAACACTGGACATTTCTGTGACAGGTAAAAGCAGAACCTGCTGAGGCTGAGGAACTCTGGAATTAAATGAAGCAAAAACAGAATCCTAACCATACTGAGAAGGGTATATGCATTCCCTATGAATCTTCCAGTTCTTATGGGCAGCCCAAATATTACTTGTACATGTTGTATGCACACGTGAATCTATGTGGACGGATGACAAATATTTGGGCAAGGATCATGCACATAAAATTAGCAAACATTCAAGAACCTCAACTTTGAGGCCAAGTGCTTACAATTGTCCCTAGTTAAAGGGGAGCTGATTCTAAGATTCATGATGCCACTGTCACCCAGAGAAGGATCCCAGACCAGGCACACATAGCTGACAGTTTTTGTTTCACTCCTCTTCCTTGCCCATTCCCAGAAGTCATGTGCTTCCCAGAAACACACAAAGCCAGACTGAGTTTCCATTAAGAGTGGGTGGAGTTGGTTTAGAGCCAGGAAAACAAGGCAGGACAGAGGCAGCAGACACTCACTTGGACCAGGCAAAGAGGGAAGCAAGGTGGCCAGGTACTCATGCCCAGTTGCCATGTGGACAGCAGATAAGACCTCTGGTAGTCTCACAGATGGCAGGAGAGCTCAGGTCAGGAGGCTGGGCACTTTAGAGTCCACTGAATCGAGTCAGCAGCAGATTATGCTGAGGCTGGCGATATTATTTACTGGATCTGCCACTGACTTTCTAATGGTTTTTCCAGAGGCTGCCGTTTTTGTGGTCCTTCATAGCAGTCTGTTACTTCATCTGTTTGCCACAAATCAAACCAGAGACCAAAAGACAGCAGGGACCTTAGAAAATGCTCAATAGTTGGGAAGCTAAGGTTATGAATAAAAGCTGGTAACTGTCACAGGTGGTCTTATTTCTGGGTGATCTTTTCTTGGGGAAGTCCATGGCTATAGCCATCATAAAATTAGGGGTGAAGGGTTGGATCTAGAAAGGAGAGGGTTTGGGCTTAAAAAGAACATATCTGATTTCAGTTTTATGTCCTGGAGAGAGACTGGGTTTGAATAAATACTGATCAAAATGAATCCAAGAATAGATCACACACTGTTTTGTTCACACTTGGAAACACAGGCAAACATTAAAAATAAAAGCAAATAAACCTACCCTGGTCTCTTTTTGGGGAAGTAGATTTGACTGCTCTCAGATGATCAGCCTGGATGTTCAGAAGACAATCTGAATTCAAAAGGACCTTTCACCTGGTTTAATTCTCTGGCAACAATTCAGTTTTCAAACCCAATTCCCAAATAATTGCTATTTTCAGCATCATGATGCAGATCACAAAAATATTCCAATTTGGCCTGGCTCTTTTTATGACGATATCCTCTCCCAGTAATTTCTGTAACCTGCAAAGTAAGTGCCTTTTTCCTTCCACCTAGGGGGAAAAAATTAATGATCCCTGTTCACACACTGACTCACGTGGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGA	1	33476431	33478828	T	TAGGCTGAAATAGAGAGGAAACAAGAGAGAACAAAATGGGTTTTTAAAAACCAAGTACATATCAGAGGAGGCTGGCATGTAAGCCCCAGCAACCAAATGCATTAAACACTGGACATTTCTGTGACAGGTAAAAGCAGAACCTGCTGAGGCTGAGGAACTCTGGAATTAAATGAAGCAAAAACAGAATCCTAACCATACTGAGAAGGGTATATGCATTCCCTATGAATCTTCCAGTTCTTATGGGCAGCCCAAATATTACTTGTACATGTTGTATGCACACGTGAATCTATGTGGACGGATGACAAATATTTGGGCAAGGATCATGCACATAAAATTAGCAAACATTCAAGAACCTCAACTTTGAGGCCAAGTGCTTACAATTGTCCCTAGTTAAAGGGGAGCTGATTCTAAGATTCATGATGCCACTGTCACCCAGAGAAGGATCCCAGACCAGGCACACATAGCTGACAGTTTTTGTTTCACTCCTCTTCCTTGCCCATTCCCAGAAGTCATGTGCTTCCCAGAAACACACAAAGCCAGACTGAGTTTCCATTAAGAGTGGGTGGAGTTGGTTTAGAGCCAGGAAAACAAGGCAGGACAGAGGCAGCAGACACTCACTTGGACCAGGCAAAGAGGGAAGCAAGGTGGCCAGGTACTCATGCCCAGTTGCCATGTGGACAGCAGATAAGACCTCTGGTAGTCTCACAGATGGCAGGAGAGCTCAGGTCAGGAGGCTGGGCACTTTAGAGTCCACTGAATCGAGTCAGCAGCAGATTATGCTGAGGCTGGCGATATTATTTACTGGATCTGCCACTGACTTTCTAATGGTTTTTCCAGAGGCTGCCGTTTTTGTGGTCCTTCATAGCAGTCTGTTACTTCATCTGTTTGCCACAAATCAAACCAGAGACCAAAAGACAGCAGGGACCTTAGAAAATGCTCAATAGTTGGGAAGCTAAGGTTATGAATAAAAGCTGGTAACTGTCACAGGTGGTCTTATTTCTGGGTGATCTTTTCTTGGGGAAGTCCATGGCTATAGCCATCATAAAATTAGGGGTGAAGGGTTGGATCTAGAAAGGAGAGGGTTTGGGCTTAAAAAGAACATATCTGATTTCAGTTTTATGTCCTGGAGAGAGACTGGGTTTGAATAAATACTGATCAAAATGAATCCAAGAATAGATCACACACTGTTTTGTTCACACTTGGAAACACAGGCAAACATTAAAAATAAAAGCAAATAAACCTACCCTGGTCTCTTTTTGGGGAAGTAGATTTGACTGCTCTCAGATGATCAGCCTGGATGTTCAGAAGACAATCTGAATTCAAAAGGACCTTTCACCTGGTTTAATTCTCTGGCAACAATTCAGTTTTCAAACCCAATTCCCAAATAATTGCTATTTTCAGCATCATGATGCAGATCACAAAAATATTCCAATTTGGCCTGGCTCTTTTTATGACGATATCCTCTCCCAGTAATTTCTGTAACCTGCAAAGTAAGTGCCTTTTTCCTTCCACCTAGGGGGAAAAAATTAATGATCCCTGTTCACACACTGACTCACGTGGGTTTTCATCATGGGTTAGAAAACAAAATGGAATTCTCTGTCCATAATGTGCCATCAGGAACTGTGACCCTGCCTGACTTCACATGATCCTGGACTTCTAATCAGCTGCTGGAAATGGAAGAAATACTATGAGGTTCTGGAATTGCGGTCCCTGGAAGATTACCTGGGTTAGTTCATTTTGGTCAAAAAATAAAATCAAAAGTATGGTTAAAGAAGTAAACAGCTGGGCTGGGTGTAGTGGCTCACGTCTGTGATCCTGGCACTTCAGGAGGCCAAGGTGGGTGGATTGCTTAAGCCTAGGAGTTCAAGACCAGCCTGGGCAACTTGGCAAAATCCTGTCTCTACAAAAAATACAAATATCAGCCAGGTGTTGTGGCATGCACCTGTAGTCCCAGCTGCTCAGGAGGCTGAGGTGGGATAATTGCTTGAGCCCCAGGAGGCAGAGGTTGCCGTGAGCCAAGATCACGCCACTGCACTCCAGCCAGGGTGGCAGAGCGAAACCTTGTCTCAAAACAACAACAAAAAAGAAGTAAACAGCTGGTAAAGCAACCTAGCCTAAAACTTACAAAGTAGCAGAGTGAACACATATGTGCATGCACACACACACACACACAACACACATACACACAGATGAGAGTAGCACACACGCCAAAGATACATCAAGCAAGTGCTTTTTTAATCAATACATCAAATGATATTTTTGCTAGCCTGAGGAAGCTTCTCTTTGCCTGTCCTATCATTCCCACCCATTGCCTCACAGGGATGGAAAGAAATTCCTTCTTGGACCCAACATTAGATAAACATAACCAAGTCTTTACATGTGGCTTTGGAGA	AK2	c.680_697dup	NM_013411.3	NP_037543.1:p.(Ter233PheextTer6)	NC_000001.10:g.33476438_33478828dup	(Likely) benign	1 lab	b8b946cf9d
7:128490513 FLNC G>A	7	128490513	128490513	G	A	FLNC	c.5374G>A	NM_001458.4	NP_001449.3:p.(Ala1792Thr)	NC_000007.13:g.128490513G>A	(Likely) benign	1 lab	b8b9c688e1
10:15255723 FAM171A1 G>A	10	15255723	15255723	G	A	FAM171A1	c.1864C>T	NM_001010924.2	NP_001010924.1:p.(His622Tyr)	NC_000010.10:g.15255723G>A	VUS	1 lab	b8bb722b73
10:112572244 RBM20 G>A	10	112572244	112572244	G	A	RBM20	c.2089G>A	NM_001134363.1	NP_001127835.1:p.(Gly697Arg)	NC_000010.10:g.112572244G>A	VUS	1 lab	b8bbd92f76
9:130116145 GARNL3 G>A	9	130116145	130116145	G	A	GARNL3	c.1564G>A	NM_032293.5	NP_115669.3:p.(Val522Met)	NC_000009.11:g.130116145G>A	VUS	1 lab	b8bcf8bd92
16:69726060 NFAT5 A>G	16	69726060	69726060	A	G	NFAT5	c.2050A>G	NM_138714.3	NP_619728.2:p.(Asn684Asp)	NC_000016.9:g.69726060A>G	(Likely) benign	1 lab	b8bd6354df
5:42713507 GHR G>A	5	42713507	42713507	G	A	GHR	c.785-24G>A	NM_000163.4	NP_000154.1:p.?	NC_000005.9:g.42713507G>A	(Likely) benign	1 lab	b8bdbe17ea
X:77268485 ATP7A CTT>C	X	77268485	77268488	CTT	C	ATP7A	c.2284_2285del	NM_000052.7	NP_000043.4:p.(Leu762AspfsTer9)	NC_000023.10:g.77268487_77268488del	(Likely) pathogenic	1 lab	b8bef9465e
6:33170819 SLC39A7 A>T	6	33170819	33170819	A	T	SLC39A7	c.1073A>T	NM_006979.3	NP_008910.2:p.(His358Leu)	NC_000006.11:g.33170819A>T	VUS	1 lab	b8c13056b5
X:153599549 FLNA T>A	X	153599549	153599549	T	A	FLNA	c.65A>T	NM_001110556.2	NP_001104026.1:p.(Asp22Val)	NC_000023.10:g.153599549T>A	(Likely) benign	1 lab	b8c16dd6d1
X:124456532 TEX13C G>A	X	124456532	124456532	G	A	TEX13C	c.2564G>A	NM_001195272.2	NP_001182201.1:p.(Ser855Asn)	NC_000023.10:g.124456532G>A	(Likely) benign	1 lab	b8c22a481c
4:79291104 FRAS1 G>A	4	79291104	79291104	G	A	FRAS1	c.2835G>A	NM_025074.7	NP_079350.5:p.(Gln945=)	NC_000004.11:g.79291104G>A	(Likely) benign	1 lab	b8c2e21259
16:3652224 SLX4 G>A	16	3652224	3652224	G	A	SLX4	c.845C>T	NM_032444.2	NP_115820.2:p.(Ser282Leu)	NC_000016.9:g.3652224G>A	VUS	1 lab	b8c41e71b1
16:11016081 CIITA G>A	16	11016081	11016081	G	A	CIITA	c.3210G>A	NM_001286402.1	NP_001273331.1:p.(Pro1070=)	NC_000016.9:g.11016081G>A	VUS	1 lab	b8c8039cd0
6:12292741 EDN1 G>A	6	12292741	12292741	G	A	EDN1	c.232G>A	NM_001955.4	NP_001946.3:p.(Glu78Lys)	NC_000006.11:g.12292741G>A	VUS	1 lab	b8c82f6d68
21:47850422 PCNT T>G	21	47850422	47850422	T	G	PCNT	c.7915T>G	NM_006031.5	NP_006022.3:p.(Ser2639Ala)	NC_000021.8:g.47850422T>G	VUS	1 lab	b8c8710c07
22:38877244 KDELR3 G>C	22	38877244	38877244	G	C	KDELR3	c.379G>C	NM_006855.4	NP_006846.1:p.(Glu127Gln)	NC_000022.10:g.38877244G>C	VUS	1 lab	b8c9ceeb58
5:98236892 CHD1 A>G	5	98236892	98236892	A	G	CHD1	c.585T>C	NM_001364113.1	NP_001351042.1:p.(Asn195=)	NC_000005.9:g.98236892A>G	(Likely) benign	1 lab	b8ca9f2543
X:149681076 MAMLD1 G>A	X	149681076	149681076	G	A	MAMLD1	c.2730G>A	NM_001177465.3	NP_001170936.1:p.(Pro910=)	NC_000023.10:g.149681076G>A	(Likely) benign	1 lab	b8cb071538
22:50356368 PIM3 C>T	22	50356368	50356368	C	T	PIM3	c.648C>T	NM_001001852.4	NP_001001852.2:p.(Ile216=)	NC_000022.10:g.50356368C>T	(Likely) benign	1 lab	b8cb68c705
X:10176634 CLCN4 A>C	X	10176634	10176634	A	C	CLCN4	c.1389+4A>C	NM_001830.3	NP_001821.2:p.?	NC_000023.10:g.10176634A>C	(Likely) benign	1 lab	b8cd3cbc9e
2:39250248 SOS1 A>G	2	39250248	39250248	A	G	SOS1	c.1321T>C	NM_005633.3	NP_005624.2:p.(Cys441Arg)	NC_000002.11:g.39250248A>G	(Likely) pathogenic	1 lab	b8cdde96aa
17:63533567 AXIN2 C>T	17	63533567	63533567	C	T	AXIN2	c.1587G>A	NM_004655.3	NP_004646.3:p.(Glu529=)	NC_000017.10:g.63533567C>T	(Likely) benign	1 lab	b8ce51d5f2
6:75823017 COL12A1 G>A	6	75823017	75823017	G	A	COL12A1	c.7853C>T	NM_004370.5	NP_004361.3:p.(Thr2618Met)	NC_000006.11:g.75823017G>A	VUS	1 lab	b8ce6bd2ab
6:86303338 SNX14 G>A	6	86303338	86303338	G	A	SNX14	c.99C>T	NM_153816.5	NP_722523.1:p.(Phe33=)	NC_000006.11:g.86303338G>A	(Likely) benign	1 lab	b8d043916a
7:156974959 UBE3C A>G	7	156974959	156974959	A	G	UBE3C	c.928A>G	NM_014671.3	NP_055486.2:p.(Arg310Gly)	NC_000007.13:g.156974959A>G	(Likely) benign	1 lab	b8d0493e12
13:36905617 SPART G>A	13	36905617	36905617	G	A	SPART	c.927C>T	NM_015087.5	NP_055902.1:p.(Val309=)	NC_000013.10:g.36905617G>A	(Likely) benign	1 lab	b8d496f943
6:72922897 RIMS1 A>G	6	72922897	72922897	A	G	RIMS1	c.72A>G	NM_001350436.1	NP_001337365.1:p.(Gly24=)	NC_000006.11:g.72922897A>G	(Likely) benign	1 lab	b8d7068e51
14:51205009 NIN C>T	14	51205009	51205009	C	T	NIN	c.5629-5G>A	NM_020921.3	NP_065972.3:p.?	NC_000014.8:g.51205009C>T	(Likely) benign	1 lab	b8d71ed1d1
19:57955184 ZNF749 C>G	19	57955184	57955184	C	G	ZNF749	c.647C>G	NM_001321952.1	NP_001308881.1:p.(Pro216Arg)	NC_000019.9:g.57955184C>G	(Likely) benign	1 lab	b8d992d2dd
3:47385302 KLHL18 C>T	3	47385302	47385302	C	T	KLHL18	c.1596C>T	NM_025010.5	NP_079286.2:p.(Tyr532=)	NC_000003.11:g.47385302C>T	(Likely) benign	1 lab	b8da115a25
9:117188659 WHRN C>T	9	117188659	117188659	C	T	WHRN	c.998G>A	NM_015404.3	NP_056219.3:p.(Ser333Asn)	NC_000009.11:g.117188659C>T	VUS	1 lab	b8da1ec5e1
4:5564809 EVC2 C>G	4	5564809	5564809	C	G	EVC2	c.3453G>C	NM_001166136.1	NP_001159608.1:p.(Glu1151Asp)	NC_000004.11:g.5564809C>G	(Likely) benign	1 lab	b8dc2a2534
X:153036049 PLXNB3 C>T	X	153036049	153036049	C	T	PLXNB3	c.2031C>T	NM_001163257.1	NP_001156729.1:p.(Tyr677=)	NC_000023.10:g.153036049C>T	(Likely) benign	1 lab	b8dca36e01
X:153128187 L1CAM C>T	X	153128187	153128187	C	T	L1CAM	c.3705G>A	NM_001278116.1	NP_001265045.1:p.(Lys1235=)	NC_000023.10:g.153128187C>T	(Likely) benign	1 lab	b8dcb5cb30
16:11154767 CLEC16A G>A	16	11154767	11154767	G	A	CLEC16A	c.2004G>A	NM_015226.2	NP_056041.1:p.(Arg668=)	NC_000016.9:g.11154767G>A	(Likely) benign	1 lab	b8dd1cc77e
6:35471370 TULP1 G>A	6	35471370	35471370	G	A	TULP1	c.1289C>T	NM_003322.5	NP_003313.3:p.(Ala430Val)	NC_000006.11:g.35471370G>A	(Likely) benign	1 lab	b8e12fd424
5:70856037 BDP1 C>T	5	70856037	70856037	C	T	BDP1	c.7469C>T	NM_018429.2	NP_060899.2:p.(Thr2490Ile)	NC_000005.9:g.70856037C>T	(Likely) benign	1 lab	b8ed04b07b
5:140531443 PCDHB6 C>G	5	140531443	140531443	C	G	PCDHB6	c.1605C>G	NM_018939.3	NP_061762.2:p.(Gly535=)	NC_000005.9:g.140531443C>G	(Likely) benign	1 lab	b8efa1bd98
1:236228308 NID1 C>T	1	236228308	236228308	C	T	NID1	c.72G>A	NM_002508.2	NP_002499.2:p.(Gly24=)	NC_000001.10:g.236228308C>T	(Likely) benign	1 lab	b8f19eeeb0
3:9959116 IL17RC A>G	3	9959116	9959116	A	G	IL17RC	c.117A>G	NM_153461.3	NP_703191.1:p.(Glu39=)	NC_000003.11:g.9959116A>G	(Likely) benign	1 lab	b8f1c91123
11:1281912 MUC5B G>A	11	1281912	1281912	G	A	MUC5B	c.17023G>A	NM_002458.2	NP_002449.2:p.(Glu5675Lys)	NC_000011.9:g.1281912G>A	VUS	1 lab	b8f24f3b61
19:45924532 ERCC1 C>T	19	45924532	45924532	C	T	ERCC1	c.225G>A	NM_001983.3	NP_001974.1:p.(Thr75=)	NC_000019.9:g.45924532C>T	(Likely) benign	1 lab	b8f2837486
9:34660948 IL11RA CAGA>C	9	34660948	34660954	CAGA	C	IL11RA	c.1252+19_1252+21del	NM_001142784.3	NP_001136256.1:p.?	NC_000009.11:g.34660952_34660954del	(Likely) benign	1 lab	b8f343f439
13:78472425 EDNRB G>C	13	78472425	78472425	G	C	EDNRB	c.1509C>G	NM_001201397.1	NP_001188326.1:p.(Ser503=)	NC_000013.10:g.78472425G>C	(Likely) benign	1 lab	b8f4e948d6
X:53576005 HUWE1 C>A	X	53576005	53576005	C	A	HUWE1	c.9950G>T	NM_031407.6	NP_113584.3:p.(Ser3317Ile)	NC_000023.10:g.53576005C>A	VUS	1 lab	b8f50c2995
17:1628766 WDR81 C>A	17	1628766	1628766	C	A	WDR81	c.513C>A	NM_001163809.1	NP_001157281.1:p.(Val171=)	NC_000017.10:g.1628766C>A	(Likely) benign	1 lab	b8f55fe278
X:108695332 GUCY2F G>A	X	108695332	108695332	G	A	GUCY2F	c.1392C>T	NM_001522.2	NP_001513.2:p.(Ile464=)	NC_000023.10:g.108695332G>A	(Likely) benign	1 lab	b8f60f905a
20:47582394 ARFGEF2 T>C	20	47582394	47582394	T	C	ARFGEF2	c.908-15T>C	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47582394T>C	(Likely) benign	1 lab	b8f8dc9dc4
3:9784618 BRPF1 G>C	3	9784618	9784618	G	C	BRPF1	c.2002-10G>C	NM_001003694.1	NP_001003694.1:p.?	NC_000003.11:g.9784618G>C	(Likely) benign	1 lab	b8fa184486
11:4107939 STIM1 TACC>T	11	4107939	4107960	TACC	T	STIM1	c.1634+185_1634+187del	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4107958_4107960del	VUS	1 lab	b8fa318340
17:1630557 WDR81 C>T	17	1630557	1630557	C	T	WDR81	c.2304C>T	NM_001163809.1	NP_001157281.1:p.(His768=)	NC_000017.10:g.1630557C>T	(Likely) benign	1 lab	b8fa797798
12:49431743 KMT2D G>C	12	49431743	49431743	G	C	KMT2D	c.9396C>G	NM_003482.3	NP_003473.3:p.(Cys3132Trp)	NC_000012.11:g.49431743G>C	VUS	1 lab	b8faa66207
14:53619480 DDHD1 TGCC>T	14	53619480	53619494	TGCC	T	DDHD1	c.334_336del	NM_001160148.2	NP_001153620.1:p.(Gly112del)	NC_000014.8:g.53619492_53619494del	VUS	1 lab	b8fb586a50
11:47732058 AGBL2 T>G	11	47732058	47732058	T	G	AGBL2	c.103A>C	NM_024783.4	NP_079059.2:p.(Arg35=)	NC_000011.9:g.47732058T>G	(Likely) benign	1 lab	b8fc0649f9
9:88287515 AGTPBP1 T>A	9	88287515	88287515	T	A	AGTPBP1	c.518A>T	NM_001330701.1	NP_001317630.1:p.(His173Leu)	NC_000009.11:g.88287515T>A	(Likely) benign	1 lab	b8fcb2cddd
1:154574129 ADAR A>G	1	154574129	154574129	A	G	ADAR	c.104T>C	NM_001193495.2	NP_001180424.1:p.(Ile35Thr)	NC_000001.10:g.154574129A>G	VUS	1 lab	b8fcd8390d
6:32065024 TNXB G>GC	6	32065024	32065025	G	GC	TNXB	c.605dup	NM_019105.6	NP_061978.6:p.(Cys202TrpfsTer59)	NC_000006.11:g.32065025dup	VUS	1 lab	b8ff0d4475
5:131044898 FNIP1 C>A	5	131044898	131044898	C	A	FNIP1	c.774G>T	NM_133372.3	NP_588613.3:p.(Arg258=)	NC_000005.9:g.131044898C>A	(Likely) benign	1 lab	b90003bc5b
7:156584063 LMBR1 G>C	7	156584063	156584063	G	C	LMBR1	c.423+5020C>G	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584063G>C	(Likely) benign	1 lab	b9006bb855
10:48388122 RBP3 G>A	10	48388122	48388122	G	A	RBP3	c.2756C>T	NM_002900.2	NP_002891.1:p.(Pro919Leu)	NC_000010.10:g.48388122G>A	VUS	1 lab	b9014661b2
1:197390919 CRB1 C>T	1	197390919	197390919	C	T	CRB1	c.1754C>T	NM_001257965.1	NP_001244894.1:p.(Thr585Ile)	NC_000001.10:g.197390919C>T	VUS	1 lab	b9019e18d3
X:77266940 ATP7A T>G	X	77266940	77266940	T	G	ATP7A	c.1947-6T>G	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77266940T>G	(Likely) pathogenic	1 lab	b901de4140
X:149671780 MAMLD1 C>T	X	149671780	149671780	C	T	MAMLD1	c.2277C>T	NM_005491.4	NP_005482.2:p.(Asp759=)	NC_000023.10:g.149671780C>T	(Likely) benign	1 lab	b90257d80e
2:233322721 ALPI C>T	2	233322721	233322721	C	T	ALPI	c.870C>T	NM_001631.5	NP_001622.2:p.(Pro290=)	NC_000002.11:g.233322721C>T	(Likely) benign	1 lab	b9047e4043
10:12139996 DHTKD1 G>A	10	12139996	12139996	G	A	DHTKD1	c.1671+1G>A	NM_018706.6	NP_061176.3:p.?	NC_000010.10:g.12139996G>A	(Likely) pathogenic	1 lab	b9048a9d77
1:201054626 CACNA1S AG>A	1	201054626	201054628	AG	A	CACNA1S	c.1087del	NM_000069.3	NP_000060.2:p.(Leu363PhefsTer5)	NC_000001.10:g.201054628del	(Likely) pathogenic	1 lab	b90659ef0e
8:140630762 KCNK9 C>T	8	140630762	140630762	C	T	KCNK9	c.864G>A	NM_001282534.1	NP_001269463.1:p.(Ala288=)	NC_000008.10:g.140630762C>T	(Likely) benign	1 lab	b906f77c0d
11:17578818 OTOG G>T	11	17578818	17578818	G	T	OTOG	c.849G>T	NM_001277269.1	NP_001264198.1:p.(Gly283=)	NC_000011.9:g.17578818G>T	VUS	1 lab	b907d5f025
17:10358296 MYH4 G>A	17	10358296	10358296	G	A	MYH4	c.2397C>T	NM_017533.2	NP_060003.2:p.(Phe799=)	NC_000017.10:g.10358296G>A	(Likely) benign	1 lab	b908fa963f
8:140922536 TRAPPC9 A>G	8	140922536	140922536	A	G	TRAPPC9	c.2792T>C	NM_001321646.1	NP_001308575.1:p.(Ile931Thr)	NC_000008.10:g.140922536A>G	VUS	1 lab	b90909f2a2
5:82815376 VCAN T>C	5	82815376	82815376	T	C	VCAN	c.1251T>C	NM_004385.4	NP_004376.2:p.(Asp417=)	NC_000005.9:g.82815376T>C	(Likely) benign	1 lab	b909bb7ee2
17:29661911 NF1 AG>A	17	29661911	29661912	AG	A	NF1	c.5869del	NM_001042492.3	NP_001035957.1:p.(Val1957PhefsTer22)	NC_000017.10:g.29661912del	(Likely) pathogenic	1 lab	b90aea6914
3:129292475 PLXND1 G>T	3	129292475	129292475	G	T	PLXND1	c.2799C>A	NM_015103.2	NP_055918.2:p.(Ala933=)	NC_000003.11:g.129292475G>T	VUS	1 lab	b90d38e766
3:37053319 MLH1 T>G	3	37053319	37053319	T	G	MLH1	c.554T>G	NM_000249.3	NP_000240.1:p.(Val185Gly)	NC_000003.11:g.37053319T>G	(Likely) pathogenic	1 lab	b90d84e3b8
7:26237284 HNRNPA2B1 C>T	7	26237284	26237284	C	T	HNRNPA2B1	c.111G>A	NM_031243.2	NP_112533.1:p.(Leu37=)	NC_000007.13:g.26237284C>T	(Likely) benign	1 lab	b90da7941d
8:48885590 MCM4 G>A	8	48885590	48885590	G	A	MCM4	c.2102G>A	NM_005914.4	NP_005905.2:p.(Arg701Gln)	NC_000008.10:g.48885590G>A	(Likely) benign	1 lab	b90da9171b
13:32929374 BRCA2 T>C	13	32929374	32929374	T	C	BRCA2	c.7384T>C	NM_000059.3	NP_000050.2:p.(Ser2462Pro)	NC_000013.10:g.32929374T>C	(Likely) benign	1 lab	b90f54c907
X:129147242 BCORL1 G>A	X	129147242	129147242	G	A	BCORL1	c.494G>A	NM_001184772.2	NP_001171701.1:p.(Arg165Gln)	NC_000023.10:g.129147242G>A	(Likely) benign	1 lab	b911373447
15:77450993 PEAK1 T>C	15	77450993	77450993	T	C	PEAK1	c.3183A>G	NM_024776.3	NP_079052.2:p.(Pro1061=)	NC_000015.9:g.77450993T>C	(Likely) benign	1 lab	b912557f09
2:145156548 ZEB2 T>C	2	145156548	145156548	T	C	ZEB2	c.2206A>G	NM_014795.3	NP_055610.1:p.(Met736Val)	NC_000002.11:g.145156548T>C	VUS	1 lab	b912bf4e75
2:74720150 TTC31 G>C	2	74720150	74720150	G	C	TTC31	c.1365G>C	NM_022492.4	NP_071937.4:p.(Arg455Ser)	NC_000002.11:g.74720150G>C	(Likely) benign	1 lab	b913fa7efe
10:55569258 PCDH15 T>C	10	55569258	55569258	T	C	PCDH15	c.4567A>G	NM_001142769.2	NP_001136241.1:p.(Ser1523Gly)	NC_000010.10:g.55569258T>C	VUS	1 lab	b91402c926
11:76915168 MYO7A G>C	11	76915168	76915168	G	C	MYO7A	c.5374G>C	NM_000260.3	NP_000251.3:p.(Val1792Leu)	NC_000011.9:g.76915168G>C	VUS	1 lab	b914bddee9
8:94805496 TMEM67 G>T	8	94805496	94805496	G	T	TMEM67	c.1646G>T	NM_153704.5	NP_714915.3:p.(Arg549Leu)	NC_000008.10:g.94805496G>T	(Likely) pathogenic	1 lab	b914df348a
11:19209658 CSRP3 A>C	11	19209658	19209658	A	C	CSRP3				NC_000011.9:g.19209658A>C	(Likely) benign	1 lab	b919199f32
2:20130211 WDR35 T>C	2	20130211	20130211	T	C	WDR35	c.3100A>G	NM_001006657.1	NP_001006658.1:p.(Ile1034Val)	NC_000002.11:g.20130211T>C	(Likely) benign	1 lab	b91b54ec23
17:29683528 NF1 AG>A	17	29683528	29683530	AG	A	NF1	c.7668del	NM_001042492.3	NP_001035957.1:p.(Arg2556SerfsTer14)	NC_000017.10:g.29683530del	(Likely) pathogenic	1 lab	b91bed7ac0
1:27058083 ARID1A C>T	1	27058083	27058083	C	T	ARID1A	c.1791C>T	NM_006015.4	NP_006006.3:p.(Phe597=)	NC_000001.10:g.27058083C>T	(Likely) benign	1 lab	b91cdfc305
1:45479772 UROD G>T	1	45479772	45479772	G	T	UROD	c.636+30G>T	NM_000374.5	NP_000365.3:p.?	NC_000001.10:g.45479772G>T	(Likely) benign	1 lab	b91d4591ae
2:27276904 AGBL5 G>A	2	27276904	27276904	G	A	AGBL5	c.528G>A	NM_021831.5	NP_068603.4:p.(Pro176=)	NC_000002.11:g.27276904G>A	(Likely) benign	1 lab	b91d52aec2
3:4681058 ITPR1 C>A	3	4681058	4681058	C	A	ITPR1	c.280-10C>A	NM_001168272.1	NP_001161744.1:p.?	NC_000003.11:g.4681058C>A	(Likely) benign	1 lab	b91e1f7dd4
11:684913 DEAF1 G>A	11	684913	684913	G	A	DEAF1	c.715C>T	NM_001293634.1	NP_001280563.1:p.(Arg239Ter)	NC_000011.9:g.684913G>A	(Likely) pathogenic	1 lab	b91fa001f6
X:153689883 PLXNA3 G>A	X	153689883	153689883	G	A	PLXNA3	c.1039G>A	NM_017514.4	NP_059984.3:p.(Ala347Thr)	NC_000023.10:g.153689883G>A	(Likely) benign	1 lab	b91fc21d7b
1:209795977 LAMB3 G>T	1	209795977	209795977	G	T	LAMB3	c.2605C>A	NM_001017402.1	NP_001017402.1:p.(Arg869Ser)	NC_000001.10:g.209795977G>T	VUS	1 lab	b921b24c01
11:598471 PHRF1 G>C	11	598471	598471	G	C	PHRF1	c.993G>C	NM_001286581.2	NP_001273510.1:p.(Pro331=)	NC_000011.9:g.598471G>C	(Likely) benign	1 lab	b921e42325
2:206608017 NRP2 G>C	2	206608017	206608017	G	C	NRP2	c.1382G>C	NM_201266.1	NP_957718.1:p.(Ser461Thr)	NC_000002.11:g.206608017G>C	VUS	1 lab	b922ce23b0
1:225268373 DNAH14 C>A	1	225268373	225268373	C	A	DNAH14	c.3059C>A	NM_001367479.1	NP_001354408.1:p.(Ser1020Tyr)	NC_000001.10:g.225268373C>A	VUS	1 lab	b92450bfae
22:20049199 TANGO2 G>A	22	20049199	20049199	G	A	TANGO2	c.721G>A	NM_001322141.1	NP_001309070.1:p.(Glu241Lys)	NC_000022.10:g.20049199G>A	VUS	1 lab	b9274a1acc
7:42088210 GLI3 C>A	7	42088210	42088210	C	A	GLI3	c.559G>T	NM_000168.5	NP_000159.3:p.(Glu187Ter)	NC_000007.13:g.42088210C>A	(Likely) pathogenic	1 lab	b92b3562fc
17:10543484 MYH3 G>A	17	10543484	10543484	G	A	MYH3	c.2511C>T	NM_002470.3	NP_002461.2:p.(Ile837=)	NC_000017.10:g.10543484G>A	(Likely) benign	1 lab	b92c960248
17:29701104 NF1 C>T	17	29701104	29701104	C	T	NF1	c.8388C>T	NM_000267.3	NP_000258.1:p.(Ser2796=)	NC_000017.10:g.29701104C>T	(Likely) benign	1 lab	b92f4bf99b
10:73490324 CDH23 G>A	10	73490324	73490324	G	A	CDH23	c.3678G>A	NM_022124.5	NP_071407.4:p.(Thr1226=)	NC_000010.10:g.73490324G>A	(Likely) benign	1 lab	b92fcb37d8
5:37244522 CPLANE1 G>A	5	37244522	37244522	G	A	CPLANE1	c.525C>T	NM_023073.3	NP_075561.3:p.(Thr175=)	NC_000005.9:g.37244522G>A	(Likely) benign	1 lab	b930348df7
X:53226980 KDM5C G>A	X	53226980	53226980	G	A	KDM5C	c.2595C>T	NM_004187.3	NP_004178.2:p.(Cys865=)	NC_000023.10:g.53226980G>A	(Likely) benign	1 lab	b9308a532f
7:82763904 PCLO G>A	7	82763904	82763904	G	A	PCLO	c.2962C>T	NM_033026.5	NP_149015.2:p.(Pro988Ser)	NC_000007.13:g.82763904G>A	(Likely) benign	1 lab	b93128c726
5:89977227 ADGRV1 A>G	5	89977227	89977227	A	G	ADGRV1	c.5620A>G	NM_032119.4	NP_115495.3:p.(Ser1874Gly)	NC_000005.9:g.89977227A>G	(Likely) benign	1 lab	b93145dc4e
5:55250787 IL6ST G>C	5	55250787	55250787	G	C	IL6ST	c.1301C>G	NM_002184.4	NP_002175.2:p.(Pro434Arg)	NC_000005.9:g.55250787G>C	VUS	1 lab	b93227f2e1
22:51065435 ARSA C>T	22	51065435	51065435	C	T	ARSA	c.511G>A	NM_000487.5	NP_000478.3:p.(Asp171Asn)	NC_000022.10:g.51065435C>T	(Likely) benign	1 lab	b93294685a
8:11996026 USP17L2 G>T	8	11996026	11996026	G	T	USP17L2	c.244C>A	NM_201402.2	NP_958804.2:p.(Leu82Ile)	NC_000008.10:g.11996026G>T	VUS	1 lab	b9351b7356
5:126781157 MEGF10 A>T	5	126781157	126781157	A	T	MEGF10	c.2500A>T	NM_032446.2	NP_115822.1:p.(Ile834Phe)	NC_000005.9:g.126781157A>T	(Likely) benign	1 lab	b9361dece2
9:123739189 C5 C>T	9	123739189	123739189	C	T	C5	c.3677-6G>A	NM_001317163.1	NP_001304092.1:p.?	NC_000009.11:g.123739189C>T	(Likely) benign	1 lab	b936c8bd4e
11:76826460 CAPN5 TG>T	11	76826460	76826462	TG	T	CAPN5	c.721del	NM_004055.5	NP_004046.2:p.(Glu241ArgfsTer9)	NC_000011.9:g.76826462del	VUS	1 lab	b9394c4fb2
12:111872803 SH2B3 CTCT>C	12	111872803	111872812	CTCT	C	SH2B3	c.733-11747_733-11745del	NM_005475.3	NP_005466.1:p.?	NC_000012.11:g.111872810_111872812del	VUS	1 lab	b939683b0d
16:84213316 TAF1C G>A	16	84213316	84213316	G	A	TAF1C	c.1841C>T	NM_005679.3	NP_005670.3:p.(Pro614Leu)	NC_000016.9:g.84213316G>A	(Likely) benign	1 lab	b939f410e0
11:93521218 MED17 A>G	11	93521218	93521218	A	G	MED17	c.302A>G	NM_004268.4	NP_004259.3:p.(Asn101Ser)	NC_000011.9:g.93521218A>G	(Likely) benign	1 lab	b93bc58a20
11:12923491 TEAD1 A>G	11	12923491	12923491	A	G	TEAD1	c.704A>G	NM_021961.5	NP_068780.2:p.(Asn235Ser)	NC_000011.9:g.12923491A>G	(Likely) benign	1 lab	b93bed3065
17:1631188 WDR81 C>A	17	1631188	1631188	C	A	WDR81	c.2935C>A	NM_001163809.1	NP_001157281.1:p.(Arg979Ser)	NC_000017.10:g.1631188C>A	VUS	1 lab	b93cc20fa8
19:10781760 ILF3 G>C	19	10781760	10781760	G	C	ILF3	c.114G>C	NM_017620.2	NP_060090.2:p.(Thr38=)	NC_000019.9:g.10781760G>C	(Likely) benign	1 lab	b93cc9b794
13:52539047 ATP7B C>T	13	52539047	52539047	C	T	ATP7B	c.1830G>A	NM_000053.3	NP_000044.2:p.(Pro610=)	NC_000013.10:g.52539047C>T	(Likely) benign	1 lab	b93d6ed220
4:47839895 CORIN C>T	4	47839895	47839895	C	T	CORIN	c.63+9G>A	NM_006587.3	NP_006578.2:p.?	NC_000004.11:g.47839895C>T	(Likely) benign	1 lab	b93faf9535
4:119674051 SEC24D GA>G	4	119674051	119674061	GA	G	SEC24D	c.1422-9del	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119674061del	(Likely) benign	1 lab	b942299443
10:69970129 MYPN A>G	10	69970129	69970129	A	G	MYPN	c.3880A>G	NM_032578.3	NP_115967.2:p.(Ile1294Val)	NC_000010.10:g.69970129A>G	VUS	1 lab	b9427ea79f
6:65622566 EYS A>G	6	65622566	65622566	A	G	EYS	c.2452T>C	NM_001292009.1	NP_001278938.1:p.(Cys818Arg)	NC_000006.11:g.65622566A>G	VUS	1 lab	b9431af7d3
19:54327193 NLRP12 C>T	19	54327193	54327193	C	T	NLRP12	c.236G>A	NM_001277126.1	NP_001264055.1:p.(Arg79Gln)	NC_000019.9:g.54327193C>T	(Likely) benign	1 lab	b943d6463c
11:66299469 BBS1 C>T	11	66299469	66299469	C	T	BBS1	c.1743C>T	NM_024649.4	NP_078925.3:p.(His581=)	NC_000011.9:g.66299469C>T	(Likely) benign	1 lab	b947f1f58a
1:914815 PERM1 G>C	1	914815	914815	G	C	PERM1	c.1595C>G	NM_001291366.1	NP_001278295.1:p.(Thr532Ser)	NC_000001.10:g.914815G>C	(Likely) benign	1 lab	b94b58bc49
9:13133866 MPDZ T>A	9	13133866	13133866	T	A	MPDZ	c.4421A>T	NM_001330637.1	NP_001317566.1:p.(Asp1474Val)	NC_000009.11:g.13133866T>A	VUS	1 lab	b94db45230
2:179414498 TTN G>A	2	179414498	179414498	G	A	TTN	c.91951C>T	NM_001267550.1	NP_001254479.1:p.(Pro30651Ser)	NC_000002.11:g.179414498G>A	(Likely) benign	1 lab	b94efa4caf
2:241631758 AQP12A C>A	2	241631758	241631758	C	A	AQP12A	c.391C>A	NM_198998.2	NP_945349.1:p.(Leu131Met)	NC_000002.11:g.241631758C>A	(Likely) benign	1 lab	b94f7c2084
22:36745264 MYH9 G>A	22	36745264	36745264	G	A	MYH9	c.18C>T	NM_002473.5	NP_002464.1:p.(Ala6=)	NC_000022.10:g.36745264G>A	(Likely) benign	1 lab	b94fb2f448
2:166850781 SCN1A A>G	2	166850781	166850781	A	G	SCN1A	c.4727T>C	NM_001202435.2	NP_001189364.1:p.(Ile1576Thr)	NC_000002.11:g.166850781A>G	VUS	1 lab	b94fe1abf4
19:51295528 ACP4 G>A	19	51295528	51295528	G	A	ACP4	c.579G>A	NM_033068.2	NP_149059.1:p.(Thr193=)	NC_000019.9:g.51295528G>A	(Likely) benign	1 lab	b950aa58ef
16:2129604 TSC2 A>C	16	2129604	2129604	A	C	TSC2	c.3331A>C	NM_001114382.2	NP_001107854.1:p.(Lys1111Gln)	NC_000016.9:g.2129604A>C	VUS	1 lab	b95119c4db
17:36489882 GPR179 G>A	17	36489882	36489882	G	A	GPR179	c.1824C>T	NM_001004334.3	NP_001004334.3:p.(Leu608=)	NC_000017.10:g.36489882G>A	(Likely) benign	1 lab	b951a692ce
12:33031454 PKP2 T>C	12	33031454	33031454	T	C	PKP2	c.360A>G	NM_004572.3	NP_004563.2:p.(Glu120=)	NC_000012.11:g.33031454T>C	(Likely) benign	1 lab	b9521ce6d3
16:2138097 TSC2 G>A	16	2138097	2138097	G	A	TSC2	c.5048G>A	NM_001114382.2	NP_001107854.1:p.(Arg1683His)	NC_000016.9:g.2138097G>A	(Likely) benign	1 lab	b952308a6d
16:2134639 TSC2 C>CA	16	2134639	2134641	C	CA	TSC2	c.4418dup	NM_000548.3	NP_000539.2:p.(Arg1474GlufsTer50)	NC_000016.9:g.2134641dup	(Likely) pathogenic	1 lab	b952cf1ffd
X:140985000 MAGEC3 G>A	X	140985000	140985000	G	A	MAGEC3	c.1456G>A	NM_138702.1	NP_619647.1:p.(Val486Ile)	NC_000023.10:g.140985000G>A	(Likely) benign	1 lab	b954de3afb
17:18034815 MYO15A C>T	17	18034815	18034815	C	T	MYO15A	c.4176C>T	NM_016239.3	NP_057323.3:p.(Tyr1392=)	NC_000017.10:g.18034815C>T	(Likely) benign	1 lab	b95bd8bd66
4:532975 PIGG C>T	4	532975	532975	C	T	PIGG	c.2769C>T	NM_001127178.2	NP_001120650.1:p.(Tyr923=)	NC_000004.11:g.532975C>T	(Likely) benign	1 lab	b95be0488f
8:24775145 NEFM G>A	8	24775145	24775145	G	A	NEFM	c.1777G>A	NM_005382.2	NP_005373.2:p.(Glu593Lys)	NC_000008.10:g.24775145G>A	(Likely) benign	1 lab	b95dd60b48
7:128478774 FLNC C>T	7	128478774	128478774	C	T	FLNC	c.1328C>T	NM_001458.4	NP_001449.3:p.(Ala443Val)	NC_000007.13:g.128478774C>T	VUS	1 lab	b95e0a85d1
18:19358056 MIB1 C>G	18	19358056	19358056	C	G	MIB1	c.637-8C>G	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19358056C>G	(Likely) benign	1 lab	b95eab1b5e
1:197055915 ASPM C>T	1	197055915	197055915	C	T	ASPM	c.10331+18G>A	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197055915C>T	(Likely) benign	1 lab	b95f29b4fc
17:61912911 SMARCD2 C>T	17	61912911	61912911	C	T	SMARCD2	c.584G>A	NM_001098426.1	NP_001091896.1:p.(Arg195Gln)	NC_000017.10:g.61912911C>T	VUS	1 lab	b96005bae5
X:41333857 NYX G>A	X	41333857	41333857	G	A	NYX	c.1151G>A	NM_022567.2	NP_072089.1:p.(Gly384Asp)	NC_000023.10:g.41333857G>A	VUS	1 lab	b962724817
19:1646419 TCF3 G>A	19	1646419	1646419	G	A	TCF3	c.80C>T	NM_003200.5	NP_003191.1:p.(Pro27Leu)	NC_000019.9:g.1646419G>A	VUS	1 lab	b962d78d52
16:15932045 MYH11 T>C	16	15932045	15932045	T	C	MYH11	c.65A>G	NM_001040113.1	NP_001035202.1:p.(Asn22Ser)	NC_000016.9:g.15932045T>C	VUS	1 lab	b9632f3ff6
22:41568553 EP300 G>A	22	41568553	41568553	G	A	EP300	c.4503G>A	NM_001429.3	NP_001420.2:p.(Leu1501=)	NC_000022.10:g.41568553G>A	(Likely) benign	1 lab	b963db3102
19:54308561 NLRP12 TG>T	19	54308561	54308562	TG	T	NLRP12	c.2386del	NM_144687.4	NP_653288.1:p.(His796IlefsTer8)	NC_000019.9:g.54308562del	VUS	1 lab	b964272d16
1:207933048 CD46 G>A	1	207933048	207933048	G	A	CD46	c.454G>A	NM_002389.4	NP_002380.3:p.(Gly152Ser)	NC_000001.10:g.207933048G>A	(Likely) benign	1 lab	b9659e3bf4
21:43804115 TMPRSS3 A>AT	21	43804115	43804116	A	AT	TMPRSS3	c.579dup	NM_024022.2	NP_076927.1:p.(Cys194MetfsTer17)	NC_000021.8:g.43804116dup	(Likely) pathogenic	1 lab	b9661770cb
10:72360649 PRF1 G>A	10	72360649	72360649	G	A	PRF1	c.10C>T	NM_001083116.1	NP_001076585.1:p.(Arg4Cys)	NC_000010.10:g.72360649G>A	(Likely) benign	1 lab	b9672899a3
17:73949526 ACOX1 C>G	17	73949526	73949526	C	G	ACOX1	c.830+6G>C	NM_001185039.1	NP_001171968.1:p.?	NC_000017.10:g.73949526C>G	(Likely) benign	1 lab	b9694e0841
22:18301286 MICAL3 T>G	22	18301286	18301286	T	G	MICAL3	c.4141A>C	NM_015241.3	NP_056056.2:p.(Lys1381Gln)	NC_000022.10:g.18301286T>G	VUS	1 lab	b96d33bb72
19:13007747 GCDH C>T	19	13007747	13007747	C	T	GCDH	c.876C>T	NM_000159.3	NP_000150.1:p.(Asn292=)	NC_000019.9:g.13007747C>T	(Likely) benign	1 lab	b96e170f48
9:32987568 APTX T>C	9	32987568	32987568	T	C	APTX	c.457A>G	NM_001195249.1	NP_001182178.1:p.(Lys153Glu)	NC_000009.11:g.32987568T>C	(Likely) benign	1 lab	b971a0956f
16:30992117 SETD1A AT>A	16	30992117	30992118	AT	A	SETD1A	c.4640del	NM_014712.3	NP_055527.1:p.(Ile1547ThrfsTer12)	NC_000016.9:g.30992118del	(Likely) pathogenic	1 lab	b972389943
1:225611800 LBR T>C	1	225611800	225611800	T	C	LBR	c.-14-9A>G	NM_194442.2	NP_919424.1:p.?	NC_000001.10:g.225611800T>C	VUS	1 lab	b973818ebd
X:152990752 ABCD1 C>G	X	152990752	152990752	C	G	ABCD1	c.31C>G	NM_000033.3	NP_000024.2:p.(Arg11Gly)	NC_000023.10:g.152990752C>G	VUS	1 lab	b9739f7941
2:179482972 TTN A>G	2	179482972	179482972	A	G	TTN	c.47213T>C	NM_001267550.1	NP_001254479.1:p.(Val15738Ala)	NC_000002.11:g.179482972A>G	VUS	1 lab	b973f382ad
10:94396989 KIF11 C>G	10	94396989	94396989	C	G	KIF11	c.1924C>G	NM_004523.3	NP_004514.2:p.(Pro642Ala)	NC_000010.10:g.94396989C>G	(Likely) benign	1 lab	b9742cb2b7
4:57797669 REST T>G	4	57797669	57797669	T	G	REST	c.2645T>G	NM_001363453.1	NP_001350382.1:p.(Leu882Ter)	NC_000004.11:g.57797669T>G	(Likely) pathogenic	1 lab	b9743eade0
2:179542577 TTN T>C	2	179542577	179542577	T	C	TTN	c.34062A>G	NM_001267550.1	NP_001254479.1:p.(Glu11354=)	NC_000002.11:g.179542577T>C	(Likely) benign	1 lab	b9771638a2
22:18609703 TUBA8 C>T	22	18609703	18609703	C	T	TUBA8	c.958C>T	NM_018943.2	NP_061816.1:p.(Arg320Trp)	NC_000022.10:g.18609703C>T	VUS	1 lab	b97b759129
6:158535846 SERAC1 C>T	6	158535846	158535846	C	T	SERAC1	c.1659G>A	NM_032861.3	NP_116250.3:p.(Ser553=)	NC_000006.11:g.158535846C>T	(Likely) benign	1 lab	b97b7b0fe8
17:73754639 GALK1 G>A	17	73754639	73754639	G	A	GALK1	c.835C>T	NM_000154.1	NP_000145.1:p.(Arg279Trp)	NC_000017.10:g.73754639G>A	VUS	1 lab	b97bdf979c
X:69606526 KIF4A A>G	X	69606526	69606526	A	G	KIF4A	c.2093A>G	NM_012310.4	NP_036442.3:p.(Asn698Ser)	NC_000023.10:g.69606526A>G	VUS	1 lab	b97bedc2a0
X:118370597 PGRMC1 A>T	X	118370597	118370597	A	T	PGRMC1	c.271A>T	NM_006667.4	NP_006658.1:p.(Met91Leu)	NC_000023.10:g.118370597A>T	(Likely) benign	1 lab	b97d10fb22
1:240341281 FMN2 G>T	1	240341281	240341281	G	T	FMN2	c.1843G>T	NM_001305424.1	NP_001292353.1:p.(Glu615Ter)	NC_000001.10:g.240341281G>T	(Likely) pathogenic	1 lab	b980a2b8dd
2:136547346 LCT A>C	2	136547346	136547346	A	C	LCT	c.5358T>G	NM_002299.2	NP_002290.2:p.(Leu1786=)	NC_000002.11:g.136547346A>C	(Likely) benign	1 lab	b981308ffb
9:71863119 TJP2 G>T	9	71863119	71863119	G	T	TJP2	c.2859G>T	NM_004817.4	NP_004808.2:p.(Ser953=)	NC_000009.11:g.71863119G>T	(Likely) benign	1 lab	b98202f22d
5:74981146 POC5 G>A	5	74981146	74981146	G	A	POC5	c.1293C>T	NM_001099271.1	NP_001092741.1:p.(Ala431=)	NC_000005.9:g.74981146G>A	(Likely) benign	1 lab	b985b26e39
19:12786958 DHPS TGTGGGGAGGCGGGGGCACG>T	19	12786958	12786982	TGTGGGGAGGCGGGGGCACG	T	DHPS	c.889-21_889-3del	NM_001930.4	NP_001921.1:p.?	NC_000019.9:g.12786964_12786982del	VUS	1 lab	b985d69943
X:136649120 ZIC3 C>T	X	136649120	136649120	C	T	ZIC3	c.270C>T	NM_003413.3	NP_003404.1:p.(His90=)	NC_000023.10:g.136649120C>T	(Likely) benign	1 lab	b987cb2ee5
19:33167363 RGS9BP G>C	19	33167363	33167363	G	C	RGS9BP	c.194G>C	NM_207391.2	NP_997274.2:p.(Arg65Pro)	NC_000019.9:g.33167363G>C	VUS	1 lab	b9886daf71
19:50916762 POLD1 A>T	19	50916762	50916762	A	T	POLD1	c.2312A>T	NM_001308632.1	NP_001295561.1:p.(Tyr771Phe)	NC_000019.9:g.50916762A>T	(Likely) benign	1 lab	b98aeadc3a
10:50714011 ERCC6 A>C	10	50714011	50714011	A	C	ERCC6	c.1445T>G	NM_000124.2	NP_000115.1:p.(Leu482Arg)	NC_000010.10:g.50714011A>C	(Likely) benign	1 lab	b98bd1fd42
3:191093045 CCDC50 A>G	3	191093045	191093045	A	G	CCDC50	c.643A>G	NM_178335.2	NP_848018.1:p.(Asn215Asp)	NC_000003.11:g.191093045A>G	(Likely) benign	1 lab	b98ceb422c
X:25023014 ARX T>C	X	25023014	25023014	T	C	ARX	c.1462A>G	NM_139058.2	NP_620689.1:p.(Met488Val)	NC_000023.10:g.25023014T>C	VUS	1 lab	b98d0b1a20
X:1499956 IL3RA A>G	X	1499956	1499956	A	G	IL3RA	c.1021A>G	NM_002183.3	NP_002174.1:p.(Met341Val)	NC_000023.10:g.1499956A>G	(Likely) benign	1 lab	b98d2fce4d
16:2105525 TSC2 G>A	16	2105525	2105525	G	A	TSC2	c.599+5G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2105525G>A	(Likely) pathogenic	1 lab	b98eeccd86
19:13322942 CACNA1A A>G	19	13322942	13322942	A	G	CACNA1A	c.6296T>C	NM_023035.2	NP_075461.2:p.(Met2099Thr)	NC_000019.9:g.13322942A>G	(Likely) benign	1 lab	b98eefae95
17:29553448 NF1 C>T	17	29553448	29553448	C	T	NF1	c.2002-5C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553448C>T	(Likely) benign	1 lab	b98f8881c8
3:20225127 SGO1 T>G	3	20225127	20225127	T	G	SGO1	c.312A>C	NM_001199251.3	NP_001186180.1:p.(Thr104=)	NC_000003.11:g.20225127T>G	(Likely) benign	1 lab	b991b9ba7a
X:54784031 ITIH6 G>T	X	54784031	54784031	G	T	ITIH6	c.2476C>A	NM_198510.2	NP_940912.1:p.(Pro826Thr)	NC_000023.10:g.54784031G>T	(Likely) benign	1 lab	b994851a45
15:89866680 POLG G>A	15	89866680	89866680	G	A	POLG	c.2220C>T	NM_002693.2	NP_002684.1:p.(Asn740=)	NC_000015.9:g.89866680G>A	(Likely) benign	1 lab	b994ebee27
17:44101563 MAPT T>C	17	44101563	44101563	T	C	MAPT	c.*26T>C	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44101563T>C	(Likely) benign	1 lab	b996c5f498
3:49679771 BSN G>A	3	49679771	49679771	G	A	BSN	c.704G>A	NM_003458.3	NP_003449.2:p.(Arg235His)	NC_000003.11:g.49679771G>A	VUS	1 lab	b99c33a0b8
19:17476279 PLVAP C>T	19	17476279	17476279	C	T	PLVAP	c.995G>A	NM_031310.3	NP_112600.1:p.(Arg332Gln)	NC_000019.9:g.17476279C>T	(Likely) benign	1 lab	b99f70d6ba
19:2249335 AMH C>T	19	2249335	2249335	C	T	AMH	c.4C>T	NM_000479.4	NP_000470.2:p.(Arg2Trp)	NC_000019.9:g.2249335C>T	VUS	1 lab	b9a1e6f170
8:10480214 RP1L1 C>T	8	10480214	10480214	C	T	RP1L1	c.498G>A	NM_178857.5	NP_849188.4:p.(Gln166=)	NC_000008.10:g.10480214C>T	(Likely) benign	1 lab	b9a20cd22d
X:85302529 CHM T>C	X	85302529	85302529	T	C	CHM	c.8A>G	NM_000390.2	NP_000381.1:p.(Asp3Gly)	NC_000023.10:g.85302529T>C	(Likely) benign	1 lab	b9a2749a39
19:7527037 ARHGEF18 G>A	19	7527037	7527037	G	A	ARHGEF18	c.1415-1G>A	NM_015318.3	NP_056133.2:p.?	NC_000019.9:g.7527037G>A	(Likely) pathogenic	1 lab	b9a2825203
19:50155984 SCAF1 CGGGACAGGGACAGAGATA>C	19	50155984	50156015	CGGGACAGGGACAGAGATA	C	SCAF1	c.2352_2369del	NM_021228.3	NP_067051.2:p.(Asp785_Arg790del)	NC_000019.9:g.50155998_50156015del	VUS	1 lab	b9a531a433
22:21065034 PI4KA G>A	22	21065034	21065034	G	A	PI4KA	c.6036C>T	NM_058004.3	NP_477352.3:p.(Pro2012=)	NC_000022.10:g.21065034G>A	(Likely) benign	1 lab	b9a7f310da
12:58131569 AGAP2 T>A	12	58131569	58131569	T	A	AGAP2	c.461A>T	NM_001122772.2	NP_001116244.1:p.(Glu154Val)	NC_000012.11:g.58131569T>A	VUS	1 lab	b9a82d926d
17:17699169 RAI1 C>T	17	17699169	17699169	C	T	RAI1	c.2907C>T	NM_030665.3	NP_109590.3:p.(Asp969=)	NC_000017.10:g.17699169C>T	(Likely) benign	1 lab	b9ab38b1fe
X:107315972 VSIG1 T>C	X	107315972	107315972	T	C	VSIG1	c.586T>C	NM_001170553.1	NP_001164024.1:p.(Ser196Pro)	NC_000023.10:g.107315972T>C	(Likely) benign	1 lab	b9ab3c7ce5
14:101201105 DLK1 A>G	14	101201105	101201105	A	G	DLK1	c.1024A>G	NM_003836.6	NP_003827.3:p.(Met342Val)	NC_000014.8:g.101201105A>G	(Likely) benign	1 lab	b9afeb9165
7:1097542 GPR146 C>T	7	1097542	1097542	C	T	GPR146	c.391C>T	NM_001303474.1	NP_001290403.1:p.(Arg131Cys)	NC_000007.13:g.1097542C>T	(Likely) benign	1 lab	b9b1163bab
8:11412245 BLK C>G	8	11412245	11412245	C	G	BLK	c.473-7C>G	NM_001715.2	NP_001706.2:p.?	NC_000008.10:g.11412245C>G	(Likely) benign	1 lab	b9b50c8e64
17:29557350 NF1 A>TACTTC	17	29557350	29557350	A	TACTTC	NF1	c.3063delinsTACTTC	NM_000267.3	NP_000258.1:p.(Met1022ThrfsTer3)	NC_000017.10:g.29557350delinsTACTTC	(Likely) pathogenic	1 lab	b9b5cff71d
14:23889194 MYH7 G>C	14	23889194	23889194	G	C	MYH7	c.3586C>G	NM_000257.2	NP_000248.2:p.(His1196Asp)	NC_000014.8:g.23889194G>C	VUS	1 lab	b9b6a94b44
X:75648865 MAGEE1 A>C	X	75648865	75648865	A	C	MAGEE1	c.542A>C	NM_020932.2	NP_065983.1:p.(Tyr181Ser)	NC_000023.10:g.75648865A>C	(Likely) benign	1 lab	b9b7203676
1:152275810 FLG G>A	1	152275810	152275810	G	A	FLG	c.11552C>T	NM_002016.1	NP_002007.1:p.(Ala3851Val)	NC_000001.10:g.152275810G>A	(Likely) benign	1 lab	b9b7c034b4
21:46932327 COL18A1 C>T	21	46932327	46932327	C	T	COL18A1	c.*15C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46932327C>T	(Likely) benign	1 lab	b9bb264aa2
10:127708395 ADAM12 C>G	10	127708395	127708395	C	G	ADAM12	c.2539-1G>C	NM_003474.5	NP_003465.3:p.?	NC_000010.10:g.127708395C>G	VUS	1 lab	b9bc478e5d
16:30715444 SRCAP A>G	16	30715444	30715444	A	G	SRCAP	c.114A>G	NM_006662.2	NP_006653.2:p.(Pro38=)	NC_000016.9:g.30715444A>G	(Likely) benign	1 lab	b9bcb7c469
5:78340223 DMGDH G>A	5	78340223	78340223	G	A	DMGDH	c.898C>T	NM_013391.3	NP_037523.2:p.(Leu300Phe)	NC_000005.9:g.78340223G>A	(Likely) benign	1 lab	b9bf24a98c
1:207648290 CR2 A>G	1	207648290	207648290	A	G	CR2	c.2445A>G	NM_001006658.2	NP_001006659.1:p.(Gly815=)	NC_000001.10:g.207648290A>G	(Likely) benign	1 lab	b9c1cacb99
19:44981601 ZNF180 G>A	19	44981601	44981601	G	A	ZNF180	c.68C>T	NM_001288760.2	NP_001275689.1:p.(Ser23Leu)	NC_000019.9:g.44981601G>A	VUS	1 lab	b9c21df7cf
11:68177413 LRP5 C>T	11	68177413	68177413	C	T	LRP5	c.380C>T	NM_001291902.1	NP_001278831.1:p.(Ser127Leu)	NC_000011.9:g.68177413C>T	VUS	1 lab	b9c2ca2eeb
X:15589919 ACE2 G>C	X	15589919	15589919	G	C	ACE2	c.1665C>G	NM_021804.2	NP_068576.1:p.(Phe555Leu)	NC_000023.10:g.15589919G>C	(Likely) benign	1 lab	b9c6fd062f
5:1443097 SLC6A3 G>A	5	1443097	1443097	G	A	SLC6A3	c.216C>T	NM_001044.4	NP_001035.1:p.(Ser72=)	NC_000005.9:g.1443097G>A	(Likely) benign	1 lab	b9c8921379
22:29130417 CHEK2 G>A	22	29130417	29130417	G	A	CHEK2	c.293C>T	NM_007194.4	NP_009125.1:p.(Ala98Val)	NC_000022.10:g.29130417G>A	VUS	1 lab	b9c94193f7
4:79203966 FRAS1 T>C	4	79203966	79203966	T	C	FRAS1	c.1108-8T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79203966T>C	(Likely) benign	1 lab	b9ca3b559c
2:179585718 TTN G>T	2	179585718	179585718	G	T	TTN	c.23028C>A	NM_001267550.1	NP_001254479.1:p.(Ser7676Arg)	NC_000002.11:g.179585718G>T	VUS	1 lab	b9cb4de070
X:18936877 PHKA2 G>A	X	18936877	18936877	G	A	PHKA2	c.2059C>T	NM_000292.2	NP_000283.1:p.(Arg687Cys)	NC_000023.10:g.18936877G>A	(Likely) benign	1 lab	b9cc18fcf8
10:112541539 RBM20 T>C	10	112541539	112541539	T	C	RBM20	c.1172T>C	NM_001134363.1	NP_001127835.1:p.(Val391Ala)	NC_000010.10:g.112541539T>C	(Likely) benign	1 lab	b9ccd1eceb
16:2107180 TSC2 G>A	16	2107180	2107180	G	A	TSC2	c.848+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2107180G>A	(Likely) pathogenic	1 lab	b9cf247e7b
3:432415 CHL1 G>C	3	432415	432415	G	C	CHL1	c.2502G>C	NM_006614.4	NP_006605.2:p.(Val834=)	NC_000003.11:g.432415G>C	(Likely) benign	1 lab	b9cf7bb719
7:107626764 LAMB1 A>G	7	107626764	107626764	A	G	LAMB1	c.468T>C	NM_002291.2	NP_002282.2:p.(Phe156=)	NC_000007.13:g.107626764A>G	(Likely) benign	1 lab	b9d26bdd51
1:213170562 ANGEL2 C>T	1	213170562	213170562	C	T	ANGEL2	c.1040G>A	NM_001300755.1	NP_001287684.1:p.(Arg347Gln)	NC_000001.10:g.213170562C>T	(Likely) benign	1 lab	b9d28683ab
15:100516395 ADAMTS17 G>A	15	100516395	100516395	G	A	ADAMTS17	c.2982C>T	NM_139057.3	NP_620688.2:p.(Ser994=)	NC_000015.9:g.100516395G>A	(Likely) benign	1 lab	b9d2a7085b
X:54043078 PHF8 C>T	X	54043078	54043078	C	T	PHF8	c.546G>A	NM_015107.2	NP_055922.1:p.(Gly182=)	NC_000023.10:g.54043078C>T	(Likely) benign	1 lab	b9d599b8e7
8:2954473 CSMD1 T>C	8	2954473	2954473	T	C	CSMD1	c.7036A>G	NM_033225.6	NP_150094.5:p.(Thr2346Ala)	NC_000008.10:g.2954473T>C	VUS	1 lab	b9d6600990
17:29528146 NF1 G>GTA	17	29528146	29528150	G	GTA	NF1	c.1157_1158dup	NM_000267.3	NP_000258.1:p.(Ser387Ter)	NC_000017.10:g.29528149_29528150dup	(Likely) pathogenic	1 lab	b9d67206e0
6:152420039 ESR1 T>C	6	152420039	152420039	T	C	ESR1	c.1726T>C	NM_001122742.1	NP_001116214.1:p.(Ser576Pro)	NC_000006.11:g.152420039T>C	(Likely) benign	1 lab	b9d6c3df1f
5:89924514 ADGRV1 T>A	5	89924514	89924514	T	A	ADGRV1	c.1374T>A	NM_032119.4	NP_115495.3:p.(Phe458Leu)	NC_000005.9:g.89924514T>A	VUS	1 lab	b9d81bb5c6
19:20829164 ZNF626 C>T	19	20829164	20829164	C	T	ZNF626	c.51G>A	NM_001076675.3	NP_001070143.1:p.(Glu17=)	NC_000019.9:g.20829164C>T	(Likely) benign	1 lab	b9d8829250
20:58381108 PHACTR3 G>A	20	58381108	58381108	G	A	PHACTR3	c.1187G>A	NM_080672.5	NP_542403.1:p.(Arg396Gln)	NC_000020.10:g.58381108G>A	VUS	1 lab	b9db0ff778
1:236192918 NID1 G>A	1	236192918	236192918	G	A	NID1	c.1670C>T	NM_002508.2	NP_002499.2:p.(Pro557Leu)	NC_000001.10:g.236192918G>A	VUS	1 lab	b9ddbd93b6
21:34022534 SYNJ1 A>G	21	34022534	34022534	A	G	SYNJ1	c.3114T>C	NM_203446.2	NP_982271.2:p.(Leu1038=)	NC_000021.8:g.34022534A>G	(Likely) benign	1 lab	b9ddc44613
16:88786879 PIEZO1 G>A	16	88786879	88786879	G	A	PIEZO1	c.5863C>T	NM_001142864.4	NP_001136336.2:p.(Arg1955Cys)	NC_000016.9:g.88786879G>A	VUS	1 lab	b9dea40cc2
2:207636983 FASTKD2 A>T	2	207636983	207636983	A	T	FASTKD2	c.1193A>T	NM_001136194.1	NP_001129666.1:p.(Asp398Val)	NC_000002.11:g.207636983A>T	VUS	1 lab	b9df30edc5
8:53055520 ST18 T>A	8	53055520	53055520	T	A	ST18	c.2138A>T	NM_001352828.1	NP_001339757.1:p.(His713Leu)	NC_000008.10:g.53055520T>A	(Likely) benign	1 lab	b9e14e4717
7:47944856 PKD1L1 G>C	7	47944856	47944856	G	C	PKD1L1	c.1589C>G	NM_138295.4	NP_612152.1:p.(Thr530Ser)	NC_000007.13:g.47944856G>C	(Likely) benign	1 lab	b9e28c1346
3:180702442 DNAJC19 G>T	3	180702442	180702442	G	T	DNAJC19	c.262C>A	NM_001190233.1	NP_001177162.1:p.(Gln88Lys)	NC_000003.11:g.180702442G>T	VUS	1 lab	b9e2e6dd9d
4:187628577 FAT1 T>A	4	187628577	187628577	T	A	FAT1	c.2405A>T	NM_005245.3	NP_005236.2:p.(Lys802Met)	NC_000004.11:g.187628577T>A	VUS	1 lab	b9e3cd0a2e
12:111078284 TCTN1 G>A	12	111078284	111078284	G	A	TCTN1	c.406G>A	NM_001319681.1	NP_001306610.1:p.(Ala136Thr)	NC_000012.11:g.111078284G>A	VUS	1 lab	b9e443ed6f
14:23345473 LRP10 G>A	14	23345473	23345473	G	A	LRP10	c.1316G>A	NM_014045.4	NP_054764.2:p.(Arg439His)	NC_000014.8:g.23345473G>A	VUS	1 lab	b9e4891dc9
16:77328958 ADAMTS18 G>C	16	77328958	77328958	G	C	ADAMTS18	c.2352C>G	NM_001326358.1	NP_001313287.1:p.(Ile784Met)	NC_000016.9:g.77328958G>C	VUS	1 lab	b9e4efbc19
16:2239123 CASKIN1 C>T	16	2239123	2239123	C	T	CASKIN1	c.522G>A	NM_020764.3	NP_065815.1:p.(Ala174=)	NC_000016.9:g.2239123C>T	(Likely) benign	1 lab	b9e615df32
22:30070930 NF2 GGT>G	22	30070930	30070933	GGT	G	NF2	c.1446+2_1446+3del	NM_000268.4	NP_000259.1:p.?	NC_000022.10:g.30070932_30070933del	(Likely) pathogenic	1 lab	b9e6a28241
19:58352827 ZNF587B G>A	19	58352827	58352827	G	A	ZNF587B	c.785G>A	NM_001204818.1	NP_001191747.1:p.(Arg262Lys)	NC_000019.9:g.58352827G>A	VUS	1 lab	b9e7fa3914
1:27432469 SLC9A1 A>C	1	27432469	27432469	A	C	SLC9A1	c.1392T>G	NM_003047.4	NP_003038.2:p.(Ser464=)	NC_000001.10:g.27432469A>C	(Likely) benign	1 lab	b9e92007b9
12:13716451 GRIN2B G>A	12	13716451	13716451	G	A	GRIN2B	c.3721C>T	NM_000834.4	NP_000825.2:p.(Arg1241Trp)	NC_000012.11:g.13716451G>A	VUS	1 lab	b9e93d8f9e
1:1168198 B3GALT6 C>A	1	1168198	1168198	C	A	B3GALT6	c.540C>A	NM_080605.4	NP_542172.2:p.(Arg180=)	NC_000001.10:g.1168198C>A	(Likely) benign	1 lab	b9ebeb853f
2:179610929 TTN T>C	2	179610929	179610929	T	C	TTN	c.16198A>G	NM_133379.4	NP_596870.2:p.(Lys5400Glu)	NC_000002.11:g.179610929T>C	VUS	1 lab	b9ec21b13e
X:70323843 CXorf65 C>A	X	70323843	70323843	C	A	CXorf65	c.546G>T	NM_001025265.2	NP_001020436.1:p.(Lys182Asn)	NC_000023.10:g.70323843C>A	(Likely) benign	1 lab	b9ec2affe5
17:40354423 STAT5B C>G	17	40354423	40354423	C	G	STAT5B	c.2172G>C	NM_012448.3	NP_036580.2:p.(Thr724=)	NC_000017.10:g.40354423C>G	(Likely) benign	1 lab	b9f093fd1e
12:8757942 AICDA C>T	12	8757942	8757942	C	T	AICDA	c.296G>A	NM_020661.2	NP_065712.1:p.(Arg99Gln)	NC_000012.11:g.8757942C>T	VUS	1 lab	b9f0d1e57b
X:152128343 ZNF185 G>T	X	152128343	152128343	G	T	ZNF185	c.1603G>T	NM_001178106.1	NP_001171577.1:p.(Val535Leu)	NC_000023.10:g.152128343G>T	(Likely) benign	1 lab	b9f146e9e7
9:117848578 TNC C>T	9	117848578	117848578	C	T	TNC	c.1432G>A	NM_002160.3	NP_002151.2:p.(Gly478Ser)	NC_000009.11:g.117848578C>T	VUS	1 lab	b9f1a4a71d
22:35782871 HMOX1 G>A	22	35782871	35782871	G	A	HMOX1	c.338G>A	NM_002133.2	NP_002124.1:p.(Arg113His)	NC_000022.10:g.35782871G>A	(Likely) benign	1 lab	b9f49ddda2
11:71818990 TOMT TGGA>T	11	71818990	71818997	TGGA	T	TOMT	c.286_288del	NM_001393500.2	NP_001380429.1:p.(Glu96del)	NC_000011.9:g.71818995_71818997del	VUS	1 lab	b9f4f357ab
13:33233330 PDS5B C>G	13	33233330	33233330	C	G	PDS5B	c.537C>G	NM_015032.3	NP_055847.1:p.(Asp179Glu)	NC_000013.10:g.33233330C>G	VUS	1 lab	b9f641c173
X:86887417 KLHL4 C>T	X	86887417	86887417	C	T	KLHL4	c.1532C>T	NM_019117.4	NP_061990.2:p.(Thr511Ile)	NC_000023.10:g.86887417C>T	VUS	1 lab	b9f8cb7fd3
16:50744858 NOD2 C>T	16	50744858	50744858	C	T	NOD2	c.1036C>T	NM_022162.1	NP_071445.1:p.(Arg346Trp)	NC_000016.9:g.50744858C>T	VUS	1 lab	ba064cbd79
3:57135251 IL17RD C>T	3	57135251	57135251	C	T	IL17RD	c.688G>A	NM_001318864.1	NP_001305793.1:p.(Val230Ile)	NC_000003.11:g.57135251C>T	(Likely) benign	1 lab	b9fd772c89
3:51418482 DOCK3 C>A	3	51418482	51418482	C	A	DOCK3	c.5585C>A	NM_004947.4	NP_004938.1:p.(Ser1862Tyr)	NC_000003.11:g.51418482C>A	VUS	1 lab	b9fe03a4d1
3:49713339 APEH C>T	3	49713339	49713339	C	T	APEH	c.382C>T	NM_001640.3	NP_001631.3:p.(Arg128Trp)	NC_000003.11:g.49713339C>T	(Likely) benign	1 lab	b9fee9b305
X:24382372 SUPT20HL1 A>G	X	24382372	24382372	A	G	SUPT20HL1	c.1573A>G	NM_001136234.2	NP_001129706.2:p.(Ile525Val)	NC_000023.10:g.24382372A>G	VUS	1 lab	b9fefe6de5
16:50813881 CYLD CCT>C	16	50813881	50813884	CCT	C	CYLD	c.1446_1447del	NM_001378743.1	NP_001365672.1:p.(Pro483PhefsTer16)	NC_000016.9:g.50813883_50813884del	(Likely) pathogenic	1 lab	b9ff98174b
10:26241154 MYO3A T>C	10	26241154	26241154	T	C	MYO3A	c.115T>C	NM_017433.5	NP_059129.3:p.(Leu39=)	NC_000010.10:g.26241154T>C	(Likely) benign	1 lab	ba00e8bf7a
17:29509639 NF1 C>T	17	29509639	29509639	C	T	NF1	c.844C>T	NM_000267.3	NP_000258.1:p.(Gln282Ter)	NC_000017.10:g.29509639C>T	(Likely) pathogenic	1 lab	ba01171685
15:90645501 IDH2 C>T	15	90645501	90645501	C	T	IDH2	c.115+7G>A	NM_002168.3	NP_002159.2:p.?	NC_000015.9:g.90645501C>T	(Likely) benign	1 lab	ba017b8866
15:86124689 AKAP13 A>G	15	86124689	86124689	A	G	AKAP13	c.3390A>G	NM_006738.5	NP_006729.4:p.(Leu1130=)	NC_000015.9:g.86124689A>G	(Likely) benign	1 lab	ba03c8a380
19:50100122 PRR12 C>T	19	50100122	50100122	C	T	PRR12	c.2530C>T	NM_020719.2	NP_065770.1:p.(Pro844Ser)	NC_000019.9:g.50100122C>T	(Likely) benign	1 lab	ba03d3e744
3:52430920 DNAH1 G>A	3	52430920	52430920	G	A	DNAH1	c.11647G>A	NM_015512.4	NP_056327.4:p.(Gly3883Ser)	NC_000003.11:g.52430920G>A	VUS	1 lab	ba0607ba30
15:44862790 SPG11 C>T	15	44862790	44862790	C	T	SPG11	c.6410G>A	NM_025137.3	NP_079413.3:p.(Arg2137Gln)	NC_000015.9:g.44862790C>T	VUS	1 lab	ba06933ff4
6:39864627 DAAM2 G>A	6	39864627	39864627	G	A	DAAM2	c.2381G>A	NM_015345.3	NP_056160.2:p.(Arg794His)	NC_000006.11:g.39864627G>A	VUS	1 lab	ba08b861e1
2:179634378 TTN A>G	2	179634378	179634378	A	G	TTN	c.8902+28T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179634378A>G	(Likely) benign	1 lab	ba0af762c5
5:90449149 ADGRV1 C>T	5	90449149	90449149	C	T	ADGRV1	c.18736C>T	NM_032119.4	NP_115495.3:p.(Gln6246Ter)	NC_000005.9:g.90449149C>T	(Likely) pathogenic	1 lab	ba0b39e5d4
1:21890611 ALPL C>T	1	21890611	21890611	C	T	ALPL	c.550C>T	NM_000478.5	NP_000469.3:p.(Arg184Trp)	NC_000001.10:g.21890611C>T	(Likely) pathogenic	1 lab	ba0bdd28b4
19:14883215 ADGRE2 T>C	19	14883215	14883215	T	C	ADGRE2	c.294A>G	NM_013447.3	NP_038475.2:p.(Pro98=)	NC_000019.9:g.14883215T>C	(Likely) benign	1 lab	ba0bf6bfd8
8:72128932 EYA1 A>G	8	72128932	72128932	A	G	EYA1	c.1355T>C	NM_000503.5	NP_000494.2:p.(Val452Ala)	NC_000008.10:g.72128932A>G	VUS	1 lab	ba0bf92608
14:23895222 MYH7 A>G	14	23895222	23895222	A	G	MYH7	c.2113T>C	NM_000257.2	NP_000248.2:p.(Cys705Arg)	NC_000014.8:g.23895222A>G	VUS	1 lab	ba0cb120b6
21:46876281 COL18A1 C>T	21	46876281	46876281	C	T	COL18A1	c.837C>T	NM_130444.3	NP_569711.2:p.(Ser279=)	NC_000021.8:g.46876281C>T	(Likely) benign	1 lab	ba0d43ebb1
X:153296751 MECP2 G>C	X	153296751	153296751	G	C	MECP2	c.528C>G	NM_004992.3	NP_004983.1:p.(Pro176=)	NC_000023.10:g.153296751G>C	(Likely) benign	1 lab	ba0dfa4560
4:15530253 CC2D2A T>A	4	15530253	15530253	T	A	CC2D2A	c.1370T>A	NM_001080522.2	NP_001073991.2:p.(Leu457Ter)	NC_000004.11:g.15530253T>A	(Likely) pathogenic	1 lab	ba0f3392b6
3:143297562 SLC9A9 A>G	3	143297562	143297562	A	G	SLC9A9	c.759T>C	NM_173653.3	NP_775924.1:p.(Ser253=)	NC_000003.11:g.143297562A>G	(Likely) benign	1 lab	ba108bfe66
20:10393800 MKKS T>G	20	10393800	10393800	T	G	MKKS	c.363A>C	NM_018848.3	NP_061336.1:p.(Lys121Asn)	NC_000020.10:g.10393800T>G	VUS	1 lab	ba10ea392a
17:17119720 FLCN T>C	17	17119720	17119720	T	C	FLCN	c.1274A>G	NM_144997.5	NP_659434.2:p.(Gln425Arg)	NC_000017.10:g.17119720T>C	(Likely) benign	1 lab	ba11047636
X:153008470 ABCD1 G>A	X	153008470	153008470	G	A	ABCD1	c.1810G>A	NM_000033.3	NP_000024.2:p.(Val604Ile)	NC_000023.10:g.153008470G>A	(Likely) benign	1 lab	ba121cf78b
X:57934576 ZXDA T>C	X	57934576	57934576	T	C	ZXDA	c.2279A>G	NM_007156.4	NP_009087.1:p.(Asn760Ser)	NC_000023.10:g.57934576T>C	VUS	1 lab	ba12516e5d
X:1413214 CSF2RA G>A	X	1413214	1413214	G	A	CSF2RA	c.647-7G>A	NM_001161529.1	NP_001155001.1:p.?	NC_000023.10:g.1413214G>A	(Likely) benign	1 lab	ba132867f9
9:135153624 SETX G>A	9	135153624	135153624	G	A	SETX	c.6675C>T	NM_015046.5	NP_055861.3:p.(Tyr2225=)	NC_000009.11:g.135153624G>A	(Likely) benign	1 lab	ba148b5ff4
5:56111858 MAP3K1 C>A	5	56111858	56111858	C	A	MAP3K1	c.458C>A	NM_005921.1	NP_005912.1:p.(Pro153Gln)	NC_000005.9:g.56111858C>A	(Likely) benign	1 lab	ba172ddace
16:90099153 DRC4 C>G	16	90099153	90099153	C	G	DRC4	c.67C>G	NM_001286205.1	NP_001273134.1:p.(Leu23Val)	NC_000016.9:g.90099153C>G	VUS	1 lab	ba19e3cbc7
9:6644662 GLDC G>A	9	6644662	6644662	G	A	GLDC	c.286C>T	NM_000170.2	NP_000161.2:p.(Pro96Ser)	NC_000009.11:g.6644662G>A	VUS	1 lab	ba1b05ea92
20:62191324 HELZ2 C>T	20	62191324	62191324	C	T	HELZ2	c.7782G>A	NM_001037335.2	NP_001032412.2:p.(Val2594=)	NC_000020.10:g.62191324C>T	(Likely) benign	1 lab	ba1b388bd8
9:141014733 CACNA1B G>A	9	141014733	141014733	G	A	CACNA1B	c.6147G>A	NM_000718.3	NP_000709.1:p.(Ser2049=)	NC_000009.11:g.141014733G>A	(Likely) benign	1 lab	ba1b3d9244
X:119512581 ATP1B4 G>T	X	119512581	119512581	G	T	ATP1B4	c.853G>T	NM_012069.4	NP_036201.1:p.(Ala285Ser)	NC_000023.10:g.119512581G>T	(Likely) benign	1 lab	ba1b722414
7:97870411 TECPR1 C>T	7	97870411	97870411	C	T	TECPR1	c.803G>A	NM_015395.2	NP_056210.1:p.(Arg268Gln)	NC_000007.13:g.97870411C>T	VUS	1 lab	ba1cb53903
9:14750234 FREM1 G>A	9	14750234	14750234	G	A	FREM1	c.5448C>T	NM_144966.5	NP_659403.4:p.(Asp1816=)	NC_000009.11:g.14750234G>A	(Likely) benign	1 lab	ba1cc54cde
1:27875882 AHDC1 C>T	1	27875882	27875882	C	T	AHDC1	c.2745G>A	NM_001029882.3	NP_001025053.1:p.(Leu915=)	NC_000001.10:g.27875882C>T	(Likely) benign	1 lab	ba1d1d4351
2:217341858 SMARCAL1 G>A	2	217341858	217341858	G	A	SMARCAL1	c.2454G>A	NM_014140.3	NP_054859.2:p.(Val818=)	NC_000002.11:g.217341858G>A	(Likely) benign	1 lab	ba1d4081d0
10:64973502 JMJD1C G>A	10	64973502	64973502	G	A	JMJD1C	c.2425C>T	NM_032776.2	NP_116165.1:p.(Leu809Phe)	NC_000010.10:g.64973502G>A	VUS	1 lab	ba1da48f43
3:123356938 MYLK G>A	3	123356938	123356938	G	A	MYLK	c.4941C>T	NM_053025.3	NP_444253.3:p.(Ile1647=)	NC_000003.11:g.123356938G>A	(Likely) benign	1 lab	ba1e0c7dca
17:29550306 NF1 A>G	17	29550306	29550306	A	G	NF1	c.1722-156A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29550306A>G	(Likely) benign	1 lab	ba1e4f4020
12:13716191 GRIN2B C>T	12	13716191	13716191	C	T	GRIN2B	c.3981G>A	NM_000834.4	NP_000825.2:p.(Lys1327=)	NC_000012.11:g.13716191C>T	(Likely) benign	1 lab	ba1e8d7f47
10:50708619 ERCC6 G>A	10	50708619	50708619	G	A	ERCC6	c.1650C>T	NM_000124.2	NP_000115.1:p.(Ser550=)	NC_000010.10:g.50708619G>A	(Likely) benign	1 lab	ba1eb2c75c
22:25599756 CRYBB3 T>C	22	25599756	25599756	T	C	CRYBB3	c.221T>C	NM_004076.4	NP_004067.1:p.(Phe74Ser)	NC_000022.10:g.25599756T>C	VUS	1 lab	ba1f145d99
X:48549499 WAS C>T	X	48549499	48549499	C	T	WAS	c.1455C>T	NM_000377.2	NP_000368.1:p.(Asp485=)	NC_000023.10:g.48549499C>T	(Likely) benign	1 lab	ba1fd24ebc
7:35288333 TBX20 G>A	7	35288333	35288333	G	A	TBX20	c.501C>T	NM_001077653.2	NP_001071121.1:p.(Ser167=)	NC_000007.13:g.35288333G>A	(Likely) benign	1 lab	ba21222a8f
11:71907166 FOLR1 C>T	11	71907166	71907166	C	T	FOLR1	c.719C>T	NM_016724.2	NP_057936.1:p.(Ala240Val)	NC_000011.9:g.71907166C>T	(Likely) benign	1 lab	ba24190ccd
22:51160140 MISSING C>T	22	51160140	51160140	C	T	MISSING				NC_000022.10:g.51160140C>T	(Likely) benign	1 lab	ba259c1ec2
14:76184244 TTLL5 C>T	14	76184244	76184244	C	T	TTLL5	c.781C>T	NM_015072.4	NP_055887.3:p.(Arg261Trp)	NC_000014.8:g.76184244C>T	(Likely) benign	1 lab	ba26da32e2
21:46907378 COL18A1 C>T	21	46907378	46907378	C	T	COL18A1	c.1851C>T	NM_130445.2	NP_569712.2:p.(Ser617=)	NC_000021.8:g.46907378C>T	(Likely) benign	1 lab	ba28c18719
19:36593650 WDR62 G>A	19	36593650	36593650	G	A	WDR62	c.3232G>A	NM_001083961.1	NP_001077430.1:p.(Ala1078Thr)	NC_000019.9:g.36593650G>A	VUS	1 lab	ba28f25999
10:82036195 MAT1A G>A	10	82036195	82036195	G	A	MAT1A	c.705C>T	NM_000429.2	NP_000420.1:p.(Tyr235=)	NC_000010.10:g.82036195G>A	(Likely) benign	1 lab	ba290ae6f9
15:93515164 CHD2 A>G	15	93515164	93515164	A	G	CHD2	c.2352+7A>G	NM_001271.3	NP_001262.3:p.?	NC_000015.9:g.93515164A>G	VUS	1 lab	ba29851627
6:144750820 UTRN A>G	6	144750820	144750820	A	G	UTRN	c.798A>G	NM_007124.2	NP_009055.2:p.(Val266=)	NC_000006.11:g.144750820A>G	(Likely) benign	1 lab	ba29a3e067
10:50724882 ERCC6 C>T	10	50724882	50724882	C	T	ERCC6	c.1683G>A	NM_001277058.1	NP_001263987.1:p.(Thr561=)	NC_000010.10:g.50724882C>T	(Likely) benign	1 lab	ba2a5deddd
17:29653357 NF1 CT>C	17	29653357	29653358	CT	C	NF1	c.5268+88del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29653358del	(Likely) benign	1 lab	ba2c49a2be
16:1639733 IFT140 G>C	16	1639733	1639733	G	C	IFT140	c.683C>G	NM_014714.3	NP_055529.2:p.(Ser228Cys)	NC_000016.9:g.1639733G>C	VUS	1 lab	ba2c934f3b
20:31575486 SUN5 G>A	20	31575486	31575486	G	A	SUN5	c.709C>T	NM_080675.3	NP_542406.2:p.(Pro237Ser)	NC_000020.10:g.31575486G>A	VUS	1 lab	ba2d12dbd9
19:3618902 CACTIN C>T	19	3618902	3618902	C	T	CACTIN	c.1133G>A	NM_001080543.2	NP_001074012.1:p.(Arg378His)	NC_000019.9:g.3618902C>T	VUS	1 lab	ba2e0cac2e
10:16967681 CUBN C>T	10	16967681	16967681	C	T	CUBN	c.6364G>A	NM_001081.3	NP_001072.2:p.(Val2122Ile)	NC_000010.10:g.16967681C>T	VUS	1 lab	ba2e10e967
5:89925321 ADGRV1 G>A	5	89925321	89925321	G	A	ADGRV1	c.1804G>A	NM_032119.4	NP_115495.3:p.(Ala602Thr)	NC_000005.9:g.89925321G>A	VUS	1 lab	ba2e1d68b2
9:139905491 ABCA2 G>A	9	139905491	139905491	G	A	ABCA2	c.5990C>T	NM_001606.5	NP_001597.2:p.(Ala1997Val)	NC_000009.11:g.139905491G>A	(Likely) benign	1 lab	ba306d1511
19:40408618 FCGBP T>C	19	40408618	40408618	T	C	FCGBP	c.4221A>G	NM_003890.2	NP_003881.2:p.(Ser1407=)	NC_000019.9:g.40408618T>C	(Likely) benign	1 lab	ba309e72cb
6:15523372 DTNBP1 G>A	6	15523372	15523372	G	A	DTNBP1	c.647C>T	NM_001271667.1	NP_001258596.1:p.(Ser216Phe)	NC_000006.11:g.15523372G>A	VUS	1 lab	ba31c441e9
1:43916045 SZT2 A>C	1	43916045	43916045	A	C	SZT2	c.10022A>C	NM_015284.3	NP_056099.3:p.(Gln3341Pro)	NC_000001.10:g.43916045A>C	(Likely) benign	1 lab	ba31ed04c0
X:107433692 COL4A6 T>C	X	107433692	107433692	T	C	COL4A6	c.1356A>G	NM_001287758.1	NP_001274687.1:p.(Lys452=)	NC_000023.10:g.107433692T>C	(Likely) benign	1 lab	ba33722bc9
8:23190966 LOXL2 T>A	8	23190966	23190966	T	A	LOXL2	c.914A>T	NM_002318.2	NP_002309.1:p.(Gln305Leu)	NC_000008.10:g.23190966T>A	VUS	1 lab	ba372acb34
4:23816100 PPARGC1A A>T	4	23816100	23816100	A	T	PPARGC1A	c.1006T>A	NM_013261.4	NP_037393.1:p.(Ser336Thr)	NC_000004.11:g.23816100A>T	(Likely) benign	1 lab	ba3a406cc5
19:18375178 IQCN T>C	19	18375178	18375178	T	C	IQCN	c.3172A>G	NM_001145304.2	NP_001138776.1:p.(Ser1058Gly)	NC_000019.9:g.18375178T>C	(Likely) benign	1 lab	ba3a5639f2
14:45644430 FANCM A>C	14	45644430	45644430	A	C	FANCM	c.2473A>C	NM_020937.2	NP_065988.1:p.(Ser825Arg)	NC_000014.8:g.45644430A>C	(Likely) benign	1 lab	ba3a98f2a3
10:123276899 FGFR2 A>T	10	123276899	123276899	A	T	FGFR2	c.1018T>A	NM_000141.4	NP_000132.3:p.(Tyr340Asn)	NC_000010.10:g.123276899A>T	(Likely) pathogenic	1 lab	ba3b8a797b
1:65867495 DNAJC6 C>T	1	65867495	65867495	C	T	DNAJC6	c.2159C>T	NM_001256864.2	NP_001243793.1:p.(Ser720Leu)	NC_000001.10:g.65867495C>T	(Likely) benign	1 lab	ba3c007ad6
18:60052112 TNFRSF11A A>T	18	60052112	60052112	A	T	TNFRSF11A	c.1654A>T	NM_001278268.1	NP_001265197.1:p.(Met552Leu)	NC_000018.9:g.60052112A>T	VUS	1 lab	ba3c6b8c37
11:126306852 KIRREL3 G>A	11	126306852	126306852	G	A	KIRREL3	c.1406C>T	NM_032531.3	NP_115920.1:p.(Thr469Met)	NC_000011.9:g.126306852G>A	VUS	1 lab	ba3ff9c570
17:45017921 GOSR2 G>C	17	45017921	45017921	G	C	GOSR2	c.584G>C	NM_054022.3	NP_473363.1:p.(Gly195Ala)	NC_000017.10:g.45017921G>C	VUS	1 lab	ba40c5a88b
1:39824453 MACF1 A>G	1	39824453	39824453	A	G	MACF1	c.5842A>G	NM_012090.5	NP_036222.3:p.(Met1948Val)	NC_000001.10:g.39824453A>G	(Likely) benign	1 lab	ba41089543
12:49433522 KMT2D C>T	12	49433522	49433522	C	T	KMT2D	c.8031G>A	NM_003482.3	NP_003473.3:p.(Leu2677=)	NC_000012.11:g.49433522C>T	(Likely) benign	1 lab	ba440c77c6
1:68905311 RPE65 T>C	1	68905311	68905311	T	C	RPE65	c.658A>G	NM_000329.2	NP_000320.1:p.(Ile220Val)	NC_000001.10:g.68905311T>C	(Likely) benign	1 lab	ba4451595e
10:102510464 PAX2 G>C	10	102510464	102510464	G	C	PAX2	c.226G>C	NM_003988.4	NP_003979.2:p.(Gly76Arg)	NC_000010.10:g.102510464G>C	VUS	1 lab	ba4457e3f9
4:70146771 UGT2B28 G>A	4	70146771	70146771	G	A	UGT2B28	c.553G>A	NM_053039.1	NP_444267.1:p.(Gly185Arg)	NC_000004.11:g.70146771G>A	(Likely) benign	1 lab	ba4534740e
2:220077162 ABCB6 A>C	2	220077162	220077162	A	C	ABCB6	c.1915T>G	NM_005689.2	NP_005680.1:p.(Phe639Val)	NC_000002.11:g.220077162A>C	VUS	1 lab	ba49c5ba54
11:134018435 JAM3 T>C	11	134018435	134018435	T	C	JAM3	c.713-7T>C	NM_032801.4	NP_116190.3:p.?	NC_000011.9:g.134018435T>C	(Likely) benign	1 lab	ba49cfe49e
19:1615423 TCF3 C>G	19	1615423	1615423	C	G	TCF3	c.1683G>C	NM_003200.5	NP_003191.1:p.(Arg561=)	NC_000019.9:g.1615423C>G	(Likely) benign	1 lab	ba4a85ba96
16:2138565 TSC2 G>A	16	2138565	2138565	G	A	TSC2	c.5309G>A	NM_001114382.2	NP_001107854.1:p.(Arg1770Gln)	NC_000016.9:g.2138565G>A	VUS	1 lab	ba4b63fbb3
16:88798890 PIEZO1 G>C	16	88798890	88798890	G	C	PIEZO1	c.2844C>G	NM_001142864.4	NP_001136336.2:p.(Arg948=)	NC_000016.9:g.88798890G>C	(Likely) benign	1 lab	ba4bd3c609
13:86368231 SLITRK6 A>G	13	86368231	86368231	A	G	SLITRK6	c.2413T>C	NM_032229.3	NP_115605.2:p.(Tyr805His)	NC_000013.10:g.86368231A>G	VUS	1 lab	ba4c467033
5:42688992 GHR A>T	5	42688992	42688992	A	T	GHR	c.137A>T	NM_001242400.2	NP_001229329.1:p.(Asn46Ile)	NC_000005.9:g.42688992A>T	VUS	1 lab	ba4cae777b
6:152685970 SYNE1 A>G	6	152685970	152685970	A	G	SYNE1	c.10145+12T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152685970A>G	(Likely) benign	1 lab	ba4f81675d
5:68720426 MARVELD2 A>G	5	68720426	68720426	A	G	MARVELD2	c.1147-2A>G	NM_001038603.2	NP_001033692.2:p.?	NC_000005.9:g.68720426A>G	VUS	1 lab	ba4fb167b6
7:151164348 RHEB G>A	7	151164348	151164348	G	A	RHEB	c.463-51C>T	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151164348G>A	(Likely) benign	1 lab	ba52fa289b
X:46618319 SLC9A7 T>G	X	46618319	46618319	T	G	SLC9A7	c.146A>C	NM_032591.2	NP_115980.1:p.(Glu49Ala)	NC_000023.10:g.46618319T>G	(Likely) benign	1 lab	ba53330b63
X:67283997 OPHN1 C>T	X	67283997	67283997	C	T	OPHN1	c.1857G>A	NM_002547.2	NP_002538.1:p.(Pro619=)	NC_000023.10:g.67283997C>T	(Likely) benign	1 lab	ba53743eb5
6:33146455 COL11A2 C>A	6	33146455	33146455	C	A	COL11A2	c.1719+1G>T	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33146455C>A	(Likely) pathogenic	1 lab	ba553086d5
10:70775588 KIFBP G>T	10	70775588	70775588	G	T	KIFBP	c.1282G>T	NM_015634.3	NP_056449.1:p.(Ala428Ser)	NC_000010.10:g.70775588G>T	VUS	1 lab	ba5556a9b9
3:114070672 ZBTB20 T>C	3	114070672	114070672	T	C	ZBTB20	c.34A>G	NM_001164343.2	NP_001157815.1:p.(Asn12Asp)	NC_000003.11:g.114070672T>C	VUS	1 lab	ba5591d0b7
3:130293060 COL6A6 G>A	3	130293060	130293060	G	A	COL6A6	c.3238G>A	NM_001102608.2	NP_001096078.1:p.(Gly1080Ser)	NC_000003.11:g.130293060G>A	VUS	1 lab	ba55e4f378
16:2157969 PKD1 C>T	16	2157969	2157969	C	T	PKD1	c.6980G>A	NM_001009944.2	NP_001009944.2:p.(Arg2327Gln)	NC_000016.9:g.2157969C>T	(Likely) benign	1 lab	ba56bc7a00
10:71055441 HK1 G>A	10	71055441	71055441	G	A	HK1	c.168+5G>A	NM_001322365.1	NP_001309294.1:p.?	NC_000010.10:g.71055441G>A	VUS	1 lab	ba57083f39
9:131708883 DOLK T>C	9	131708883	131708883	T	C	DOLK	c.700A>G	NM_014908.3	NP_055723.1:p.(Met234Val)	NC_000009.11:g.131708883T>C	(Likely) benign	1 lab	ba577446f1
2:172314497 DCAF17 C>T	2	172314497	172314497	C	T	DCAF17	c.644C>T	NM_025000.3	NP_079276.2:p.(Thr215Ile)	NC_000002.11:g.172314497C>T	VUS	1 lab	ba596d2d2e
19:38655347 SIPA1L3 C>G	19	38655347	38655347	C	G	SIPA1L3	c.4009C>G	NM_015073.2	NP_055888.1:p.(Pro1337Ala)	NC_000019.9:g.38655347C>G	VUS	1 lab	ba599243cf
19:47983590 KPTN T>C	19	47983590	47983590	T	C	KPTN	c.674A>G	NM_007059.3	NP_008990.2:p.(Tyr225Cys)	NC_000019.9:g.47983590T>C	VUS	1 lab	ba5a0bb1b8
10:29818695 SVIL G>A	10	29818695	29818695	G	A	SVIL	c.2185C>T	NM_021738.2	NP_068506.2:p.(Arg729Cys)	NC_000010.10:g.29818695G>A	VUS	1 lab	ba5a8bdba8
9:27204927 TEK G>C	9	27204927	27204927	G	C	TEK	c.2228G>C	NM_000459.4	NP_000450.2:p.(Gly743Ala)	NC_000009.11:g.27204927G>C	VUS	1 lab	ba5d0dbf70
12:124171487 TCTN2 G>A	12	124171487	124171487	G	A	TCTN2	c.669G>A	NM_024809.4	NP_079085.2:p.(Thr223=)	NC_000012.11:g.124171487G>A	(Likely) benign	1 lab	ba5ef43cb7
X:75649230 MAGEE1 G>A	X	75649230	75649230	G	A	MAGEE1	c.907G>A	NM_020932.2	NP_065983.1:p.(Gly303Ser)	NC_000023.10:g.75649230G>A	VUS	1 lab	ba6054dc90
2:111551670 MISSING G>A	2	111551670	111551670	G	A	MISSING				NC_000002.11:g.111551670G>A	(Likely) benign	1 lab	ba60ccbc50
4:114279213 ANK2 G>A	4	114279213	114279213	G	A	ANK2	c.9439G>A	NM_001148.4	NP_001139.3:p.(Val3147Met)	NC_000004.11:g.114279213G>A	(Likely) benign	1 lab	ba6154ad87
12:124821733 NCOR2 G>A	12	124821733	124821733	G	A	NCOR2	c.5688-7C>T	NM_006312.5	NP_006303.4:p.?	NC_000012.11:g.124821733G>A	(Likely) benign	1 lab	ba61564ece
19:53740475 ZNF677 A>G	19	53740475	53740475	A	G	ZNF677	c.1505T>C	NM_182609.3	NP_872415.1:p.(Leu502Pro)	NC_000019.9:g.53740475A>G	VUS	1 lab	ba62ef3b3e
16:70902557 HYDIN G>C	16	70902557	70902557	G	C	HYDIN	c.11226C>G	NM_001270974.2	NP_001257903.1:p.(Val3742=)	NC_000016.9:g.70902557G>C	(Likely) benign	1 lab	ba649f77df
22:20784093 SCARF2 G>C	22	20784093	20784093	G	C	SCARF2	c.1230C>G	NM_153334.6	NP_699165.3:p.(Leu410=)	NC_000022.10:g.20784093G>C	(Likely) benign	1 lab	ba65344cac
13:77575053 CLN5 A>G	13	77575053	77575053	A	G	CLN5	c.1173A>G	NM_006493.2	NP_006484.1:p.(Thr391=)	NC_000013.10:g.77575053A>G	(Likely) benign	1 lab	ba6708ebe2
16:46696317 VPS35 A>C	16	46696317	46696317	A	C	VPS35	c.1905T>G	NM_018206.5	NP_060676.2:p.(Phe635Leu)	NC_000016.9:g.46696317A>C	(Likely) benign	1 lab	ba672e700f
12:110029147 MVK G>A	12	110029147	110029147	G	A	MVK	c.870G>A	NM_000431.2	NP_000422.1:p.(Gln290=)	NC_000012.11:g.110029147G>A	(Likely) benign	1 lab	ba69279af1
16:85697208 GSE1 G>A	16	85697208	85697208	G	A	GSE1	c.2632G>A	NM_014615.4	NP_055430.1:p.(Glu878Lys)	NC_000016.9:g.85697208G>A	VUS	1 lab	ba6b52d8ab
3:48694336 CELSR3 C>T	3	48694336	48694336	C	T	CELSR3	c.4194G>A	NM_001407.2	NP_001398.2:p.(Ser1398=)	NC_000003.11:g.48694336C>T	(Likely) benign	1 lab	ba6c49154f
5:131630603 SLC22A4 G>A	5	131630603	131630603	G	A	SLC22A4	c.294G>A	NM_003059.3	NP_003050.2:p.(Glu98=)	NC_000005.9:g.131630603G>A	(Likely) benign	1 lab	ba709ce37b
14:21991349 SALL2 G>A	14	21991349	21991349	G	A	SALL2	c.2513C>T	NM_005407.2	NP_005398.2:p.(Pro838Leu)	NC_000014.8:g.21991349G>A	(Likely) benign	1 lab	ba7157efe3
5:89947469 ADGRV1 C>A	5	89947469	89947469	C	A	ADGRV1	c.3338C>A	NM_032119.4	NP_115495.3:p.(Ala1113Asp)	NC_000005.9:g.89947469C>A	(Likely) benign	1 lab	ba73f5b43a
7:2952911 CARD11 C>T	7	2952911	2952911	C	T	CARD11	c.3019+10G>A	NM_001324281.1	NP_001311210.1:p.?	NC_000007.13:g.2952911C>T	(Likely) benign	1 lab	ba752d10e5
2:179457966 TTN C>T	2	179457966	179457966	C	T	TTN	c.58969G>A	NM_001267550.1	NP_001254479.1:p.(Glu19657Lys)	NC_000002.11:g.179457966C>T	VUS	1 lab	ba761a3a95
X:101972183 GPRASP2 A>T	X	101972183	101972183	A	T	GPRASP2	c.2386A>T	NM_001184874.2	NP_001171803.1:p.(Met796Leu)	NC_000023.10:g.101972183A>T	(Likely) benign	1 lab	ba77813979
15:101606360 LRRK1 C>T	15	101606360	101606360	C	T	LRRK1	c.5718C>T	NM_024652.5	NP_078928.3:p.(His1906=)	NC_000015.9:g.101606360C>T	(Likely) benign	1 lab	ba77f04b54
19:33793410 CEBPA G>A	19	33793410	33793410	G	A	CEBPA	c.16C>T	NM_001287424.1	NP_001274353.1:p.(Arg6Ter)	NC_000019.9:g.33793410G>A	(Likely) benign	1 lab	ba78032551
1:160283844 COPA G>A	1	160283844	160283844	G	A	COPA	c.778C>T	NM_001098398.2	NP_001091868.1:p.(Arg260Cys)	NC_000001.10:g.160283844G>A	VUS	1 lab	ba78eb56b0
7:127013494 ZNF800 G>A	7	127013494	127013494	G	A	ZNF800	c.1896C>T	NM_176814.5	NP_789784.2:p.(Tyr632=)	NC_000007.13:g.127013494G>A	(Likely) benign	1 lab	ba79077d84
2:238249514 COL6A3 G>A	2	238249514	238249514	G	A	COL6A3	c.8045C>T	NM_004369.3	NP_004360.2:p.(Pro2682Leu)	NC_000002.11:g.238249514G>A	VUS	1 lab	ba7a1cdfe7
17:73924265 FBF1 C>T	17	73924265	73924265	C	T	FBF1	c.289G>A	NM_001319193.1	NP_001306122.1:p.(Gly97Ser)	NC_000017.10:g.73924265C>T	(Likely) benign	1 lab	ba7ac6c25f
7:95222170 PDK4 G>C	7	95222170	95222170	G	C	PDK4	c.431C>G	NM_002612.3	NP_002603.1:p.(Ala144Gly)	NC_000007.13:g.95222170G>C	(Likely) benign	1 lab	ba7b245e87
12:49439915 KMT2D A>G	12	49439915	49439915	A	G	KMT2D	c.4626T>C	NM_003482.3	NP_003473.3:p.(Asp1542=)	NC_000012.11:g.49439915A>G	(Likely) benign	1 lab	ba7c16e6aa
X:129290511 AIFM1 C>A	X	129290511	129290511	C	A	AIFM1	c.173G>T	NM_001130847.3	NP_001124319.1:p.(Gly58Val)	NC_000023.10:g.129290511C>A	VUS	1 lab	ba7e228007
6:152529268 SYNE1 G>A	6	152529268	152529268	G	A	SYNE1	c.22663C>T	NM_182961.3	NP_892006.3:p.(Arg7555Trp)	NC_000006.11:g.152529268G>A	VUS	1 lab	ba7e7b571a
4:108930981 HADH A>T	4	108930981	108930981	A	T	HADH	c.199A>T	NM_001184705.2	NP_001171634.2:p.(Lys67Ter)	NC_000004.11:g.108930981A>T	(Likely) pathogenic	1 lab	ba7f6cae52
8:31012272 WRN G>C	8	31012272	31012272	G	C	WRN	c.3819+1G>C	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.31012272G>C	(Likely) pathogenic	1 lab	ba82952d52
21:46321602 ITGB2 C>T	21	46321602	46321602	C	T	ITGB2	c.546G>A	NM_000211.3	NP_000202.2:p.(Thr182=)	NC_000021.8:g.46321602C>T	(Likely) benign	1 lab	ba829ba559
17:41738786 MEOX1 C>G	17	41738786	41738786	C	G	MEOX1	c.117G>C	NM_004527.3	NP_004518.1:p.(Pro39=)	NC_000017.10:g.41738786C>G	(Likely) benign	1 lab	ba829dfa00
1:1670972 SLC35E2A C>G	1	1670972	1670972	C	G	SLC35E2A	c.25G>C	NM_182838.2	NP_878258.1:p.(Ala9Pro)	NC_000001.10:g.1670972C>G	VUS	1 lab	ba82a6580a
X:48324656 SLC38A5 C>T	X	48324656	48324656	C	T	SLC38A5	c.373G>A	NM_033518.3	NP_277053.2:p.(Val125Ile)	NC_000023.10:g.48324656C>T	(Likely) benign	1 lab	ba860f82eb
X:130419747 IGSF1 C>A	X	130419747	130419747	C	A	IGSF1	c.373G>T	NM_001170961.1	NP_001164432.1:p.(Ala125Ser)	NC_000023.10:g.130419747C>A	VUS	1 lab	ba8647fb80
11:45827421 SLC35C1 T>TGCAGAG	11	45827421	45827435	T	TGCAGAG	SLC35C1	c.78_83dup	NM_018389.4	NP_060859.4:p.(Glu27_Ala28dup)	NC_000011.9:g.45827430_45827435dup	VUS	1 lab	ba865badda
11:18955734 MRGPRX1 T>C	11	18955734	18955734	T	C	MRGPRX1	c.598A>G	NM_147199.3	NP_671732.3:p.(Ile200Val)	NC_000011.9:g.18955734T>C	(Likely) benign	1 lab	ba87f0ff4e
4:183676349 TENM3 A>G	4	183676349	183676349	A	G	TENM3	c.4829A>G	NM_001080477.3	NP_001073946.1:p.(Tyr1610Cys)	NC_000004.11:g.183676349A>G	VUS	1 lab	ba8822828e
16:70913352 HYDIN C>T	16	70913352	70913352	C	T	HYDIN	c.10405G>A	NM_001270974.2	NP_001257903.1:p.(Ala3469Thr)	NC_000016.9:g.70913352C>T	(Likely) benign	1 lab	ba8a993192
1:235667499 B3GALNT2 G>A	1	235667499	235667499	G	A	B3GALNT2	c.54C>T	NM_152490.4	NP_689703.1:p.(His18=)	NC_000001.10:g.235667499G>A	(Likely) benign	1 lab	ba8b2ee09b
2:135907947 RAB3GAP1 A>G	2	135907947	135907947	A	G	RAB3GAP1	c.1932A>G	NM_001172435.1	NP_001165906.1:p.(Ala644=)	NC_000002.11:g.135907947A>G	(Likely) benign	1 lab	ba8b7e76a1
X:153762646 G6PD G>C	X	153762646	153762646	G	C	G6PD	c.641C>G	NM_000402.4	NP_000393.4:p.(Ser214Cys)	NC_000023.10:g.153762646G>C	VUS	1 lab	ba8d33d392
8:6266835 MCPH1 G>A	8	6266835	6266835	G	A	MCPH1	c.58G>A	NM_001322042.1	NP_001308971.1:p.(Gly20Arg)	NC_000008.10:g.6266835G>A	VUS	1 lab	ba8fddb0ef
7:107323975 SLC26A4 C>T	7	107323975	107323975	C	T	SLC26A4	c.994C>T	NM_000441.1	NP_000432.1:p.(Pro332Ser)	NC_000007.13:g.107323975C>T	VUS	1 lab	ba905f85c2
9:140473216 DPH7 A>C	9	140473216	140473216	A	C	DPH7	c.14T>G	NM_001346372.1	NP_001333301.1:p.(Phe5Cys)	NC_000009.11:g.140473216A>C	(Likely) benign	1 lab	ba90d90e0b
17:4439699 SPNS2 G>A	17	4439699	4439699	G	A	SPNS2	c.1585G>A	NM_001124758.3	NP_001118230.1:p.(Asp529Asn)	NC_000017.10:g.4439699G>A	VUS	1 lab	ba9123c1a3
11:1262685 MUC5B G>A	11	1262685	1262685	G	A	MUC5B	c.4575G>A	NM_002458.2	NP_002449.2:p.(Gly1525=)	NC_000011.9:g.1262685G>A	(Likely) benign	1 lab	ba95c9f407
18:67872913 RTTN A>C	18	67872913	67872913	A	C	RTTN	c.-19T>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67872913A>C	(Likely) benign	1 lab	ba981a04f1
3:9547830 LHFPL4 A>T	3	9547830	9547830	A	T	LHFPL4	c.464T>A	NM_198560.3	NP_940962.1:p.(Ile155Asn)	NC_000003.11:g.9547830A>T	VUS	1 lab	ba9b1fe89e
11:32417920 WT1 G>C	11	32417920	32417920	G	C	WT1				NC_000011.9:g.32417920G>C	(Likely) benign	1 lab	ba9e30d2fd
14:68250188 ZFYVE26 G>A	14	68250188	68250188	G	A	ZFYVE26	c.3681C>T	NM_015346.3	NP_056161.2:p.(Ile1227=)	NC_000014.8:g.68250188G>A	(Likely) benign	1 lab	ba9e6f7ea6
12:80752545 OTOGL A>C	12	80752545	80752545	A	C	OTOGL	c.6189A>C	NM_173591.3	NP_775862.3:p.(Thr2063=)	NC_000012.11:g.80752545A>C	(Likely) benign	1 lab	ba9fbe39fe
20:62196824 HELZ2 C>T	20	62196824	62196824	C	T	HELZ2	c.3351G>A	NM_001037335.2	NP_001032412.2:p.(Ala1117=)	NC_000020.10:g.62196824C>T	(Likely) benign	1 lab	baa06e3154
8:21979231 HR C>T	8	21979231	21979231	C	T	HR	c.2122-24G>A	NM_005144.4	NP_005135.2:p.?	NC_000008.10:g.21979231C>T	VUS	1 lab	116d1435ae
1:3328668 PRDM16 A>G	1	3328668	3328668	A	G	PRDM16	c.1907A>G	NM_022114.3	NP_071397.3:p.(Asp636Gly)	NC_000001.10:g.3328668A>G	(Likely) benign	1 lab	baa10b6d5e
X:21579630 CNKSR2 G>C	X	21579630	21579630	G	C	CNKSR2	c.1345G>C	NM_014927.4	NP_055742.2:p.(Val449Leu)	NC_000023.10:g.21579630G>C	(Likely) benign	1 lab	baa2f817b1
13:60385029 DIAPH3 C>CT	13	60385029	60385036	C	CT	DIAPH3	c.3055dup	NM_001042517.1	NP_001035982.1:p.(Arg1019LysfsTer14)	NC_000013.10:g.60385036dup	(Likely) pathogenic	1 lab	baa44a2caf
7:75048634 POM121C G>A	7	75048634	75048634	G	A	POM121C	c.2835C>T	NM_001099415.3	NP_001092885.2:p.(Pro945=)	NC_000007.13:g.75048634G>A	(Likely) benign	1 lab	baa464bcab
9:136221789 SURF1 A>T	9	136221789	136221789	A	T	SURF1	c.130T>A	NM_003172.3	NP_003163.1:p.(Cys44Ser)	NC_000009.11:g.136221789A>T	(Likely) benign	1 lab	baa5d30ede
1:226413509 MIXL1 T>C	1	226413509	226413509	T	C	MIXL1	c.719T>C	NM_001282402.1	NP_001269331.1:p.(Phe240Ser)	NC_000001.10:g.226413509T>C	(Likely) benign	1 lab	baa620e931
17:39186102 KRTAP1-4 AG>A	17	39186102	39186108	AG	A	KRTAP1-4	c.228del	NM_001257305.2	NP_001244234.1:p.(Cys77AlafsTer4)	NC_000017.10:g.39186108del	VUS	1 lab	baa66c89ad
2:26696380 OTOF C>T	2	26696380	26696380	C	T	OTOF	c.3464G>A	NM_194248.2	NP_919224.1:p.(Arg1155Gln)	NC_000002.11:g.26696380C>T	VUS	1 lab	baa8127798
17:48267442 COL1A1 C>T	17	48267442	48267442	C	T	COL1A1	c.2479G>A	NM_000088.3	NP_000079.2:p.(Gly827Ser)	NC_000017.10:g.48267442C>T	(Likely) pathogenic	1 lab	baaaf96133
10:30604968 MTPAP G>A	10	30604968	30604968	G	A	MTPAP	c.1313-3C>T	NM_018109.3	NP_060579.3:p.?	NC_000010.10:g.30604968G>A	(Likely) benign	1 lab	baad477435
11:17578848 OTOG G>A	11	17578848	17578848	G	A	OTOG	c.879G>A	NM_001277269.1	NP_001264198.1:p.(Lys293=)	NC_000011.9:g.17578848G>A	(Likely) benign	1 lab	baad6a4ee5
X:100169916 XKRX C>T	X	100169916	100169916	C	T	XKRX	c.761G>A	NM_212559.2	NP_997724.2:p.(Arg254His)	NC_000023.10:g.100169916C>T	VUS	1 lab	baade4c541
X:135279022 FHL1 G>T	X	135279022	135279022	G	T	FHL1	c.61G>T	NM_001159701.1	NP_001153173.1:p.(Gly21Cys)	NC_000023.10:g.135279022G>T	VUS	1 lab	baadf984f8
12:109961792 UBE3B G>A	12	109961792	109961792	G	A	UBE3B	c.2374G>A	NM_130466.3	NP_569733.2:p.(Val792Met)	NC_000012.11:g.109961792G>A	VUS	1 lab	baae7cf428
8:42275420 SLC20A2 C>G	8	42275420	42275420	C	G	SLC20A2	c.1860G>C	NM_001257180.2	NP_001244109.1:p.(Arg620=)	NC_000008.10:g.42275420C>G	(Likely) benign	1 lab	baaf093577
1:220359065 RAB3GAP2 C>T	1	220359065	220359065	C	T	RAB3GAP2	c.1798G>A	NM_012414.3	NP_036546.2:p.(Ala600Thr)	NC_000001.10:g.220359065C>T	(Likely) benign	1 lab	bab064dd11
1:52861766 ORC1 G>C	1	52861766	52861766	G	C	ORC1	c.673C>G	NM_004153.3	NP_004144.2:p.(Pro225Ala)	NC_000001.10:g.52861766G>C	(Likely) benign	1 lab	bab31a644e
1:234744889 IRF2BP2 G>C	1	234744889	234744889	G	C	IRF2BP2	c.352C>G	NM_182972.2	NP_892017.2:p.(Pro118Ala)	NC_000001.10:g.234744889G>C	(Likely) benign	1 lab	bab33a7603
2:44174906 LRPPRC G>A	2	44174906	44174906	G	A	LRPPRC	c.1929C>T	NM_133259.3	NP_573566.2:p.(His643=)	NC_000002.11:g.44174906G>A	(Likely) benign	1 lab	bab35a7a93
22:40054963 CACNA1I C>T	22	40054963	40054963	C	T	CACNA1I	c.2172C>T	NM_021096.3	NP_066919.2:p.(Asp724=)	NC_000022.10:g.40054963C>T	(Likely) benign	1 lab	bab39cba29
7:100646626 MUC12 G>A	7	100646626	100646626	G	A	MUC12	c.12782G>A	NM_001164462.1	NP_001157934.1:p.(Gly4261Asp)	NC_000007.13:g.100646626G>A	VUS	1 lab	bab480e1ac
17:29556306 NF1 CA>C	17	29556306	29556307	CA	C	NF1	c.2674del	NM_001042492.3	NP_001035957.1:p.(Ser892AlafsTer10)	NC_000017.10:g.29556307del	(Likely) pathogenic	1 lab	bab486dc2d
14:70234993 SRSF5 T>C	14	70234993	70234993	T	C	SRSF5	c.120T>C	NM_001039465.1	NP_001034554.1:p.(Gly40=)	NC_000014.8:g.70234993T>C	(Likely) benign	1 lab	bab56e3648
3:47125398 SETD2 C>T	3	47125398	47125398	C	T	SETD2	c.5872G>A	NM_014159.6	NP_054878.5:p.(Ala1958Thr)	NC_000003.11:g.47125398C>T	(Likely) benign	1 lab	bab6befc11
X:133527971 PHF6 A>G	X	133527971	133527971	A	G	PHF6	c.407A>G	NM_032458.2	NP_115834.1:p.(His136Arg)	NC_000023.10:g.133527971A>G	(Likely) benign	1 lab	baba48a590
5:127728871 FBN2 G>A	5	127728871	127728871	G	A	FBN2	c.1422C>T	NM_001999.3	NP_001990.2:p.(Ala474=)	NC_000005.9:g.127728871G>A	(Likely) benign	1 lab	baba767390
17:78184655 SGSH C>A	17	78184655	78184655	C	A	SGSH	c.1105G>T	NM_000199.4	NP_000190.1:p.(Glu369Ter)	NC_000017.10:g.78184655C>A	(Likely) pathogenic	1 lab	babc2cf61c
17:29663761 NF1 CT>C	17	29663761	29663762	CT	C	NF1	c.6257del	NM_001042492.3	NP_001035957.1:p.(Leu2086ArgfsTer25)	NC_000017.10:g.29663762del	(Likely) pathogenic	1 lab	babceede3c
10:55582801 PCDH15 G>GACTT	10	55582801	55582808	G	GACTT	PCDH15	c.4702_4705dup	NM_001142763.1	NP_001136235.1:p.(Ser1569Ter)	NC_000010.10:g.55582805_55582808dup	VUS	1 lab	babf6d1359
17:29592305 NF1 C>T	17	29592305	29592305	C	T	NF1	c.4720C>T	NM_000267.3	NP_000258.1:p.(Gln1574Ter)	NC_000017.10:g.29592305C>T	(Likely) pathogenic	1 lab	bac2be9f99
1:12024799 PLOD1 A>G	1	12024799	12024799	A	G	PLOD1	c.1427A>G	NM_000302.3	NP_000293.2:p.(Lys476Arg)	NC_000001.10:g.12024799A>G	(Likely) benign	1 lab	bac47f9116
2:158627029 ACVR1 A>G	2	158627029	158627029	A	G	ACVR1	c.644-3T>C	NM_001105.4	NP_001096.1:p.?	NC_000002.11:g.158627029A>G	(Likely) benign	1 lab	bac66ff146
6:170162537 ERMARD C>T	6	170162537	170162537	C	T	ERMARD	c.870C>T	NM_018341.2	NP_060811.1:p.(Cys290=)	NC_000006.11:g.170162537C>T	(Likely) benign	1 lab	bac6d6c639
X:114425349 RBMXL3 G>A	X	114425349	114425349	G	A	RBMXL3	c.1345G>A	NM_001145346.1	NP_001138818.1:p.(Asp449Asn)	NC_000023.10:g.114425349G>A	VUS	1 lab	bac8432269
2:73677509 ALMS1 C>CTTA	2	73677509	73677511	C	CTTA	ALMS1	c.3859_3860insTAT	NM_015120.4	NP_055935.4:p.(Ser1286_Tyr1287insLeu)	NC_000002.11:g.73677510_73677511insTAT	(Likely) pathogenic	1 lab	bacabc0c92
3:71179758 FOXP1 T>C	3	71179758	71179758	T	C	FOXP1	c.77A>G	NM_001244815.1	NP_001231744.1:p.(His26Arg)	NC_000003.11:g.71179758T>C	(Likely) benign	1 lab	bacafa8d60
11:133789656 MISSING G>A	11	133789656	133789656	G	A	MISSING				NC_000011.9:g.133789656G>A	(Likely) benign	1 lab	bacb164c98
19:13397627 CACNA1A G>C	19	13397627	13397627	G	C	CACNA1A	c.3255C>G	NM_023035.2	NP_075461.2:p.(Pro1085=)	NC_000019.9:g.13397627G>C	(Likely) benign	1 lab	bacc94a807
1:26386806 TRIM63 C>A	1	26386806	26386806	C	A	TRIM63	c.548G>T	NM_032588.3	NP_115977.2:p.(Arg183Leu)	NC_000001.10:g.26386806C>A	VUS	1 lab	bace65e9fb
19:55255319 MISSING C>A	19	55255319	55255319	C	A	MISSING				NC_000019.9:g.55255319C>A	(Likely) pathogenic	1 lab	bace7103ac
1:220326591 RAB3GAP2 T>C	1	220326591	220326591	T	C	RAB3GAP2	c.3803A>G	NM_012414.3	NP_036546.2:p.(Asp1268Gly)	NC_000001.10:g.220326591T>C	VUS	1 lab	bacf5f8298
5:77523344 AP3B1 G>A	5	77523344	77523344	G	A	AP3B1	c.241C>T	NM_001271769.1	NP_001258698.1:p.(Leu81=)	NC_000005.9:g.77523344G>A	(Likely) benign	1 lab	bacfe89933
3:120394638 HGD C>A	3	120394638	120394638	C	A	HGD	c.87+1G>T	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120394638C>A	(Likely) pathogenic	1 lab	bad092d671
14:64884709 MTHFD1 C>A	14	64884709	64884709	C	A	MTHFD1	c.582C>A	NM_005956.4	NP_005947.3:p.(Thr194=)	NC_000014.8:g.64884709C>A	(Likely) benign	1 lab	bad1716fdd
19:36221765 KMT2B T>C	19	36221765	36221765	T	C	KMT2B	c.5434T>C	NM_014727.2	NP_055542.1:p.(Ser1812Pro)	NC_000019.9:g.36221765T>C	VUS	1 lab	bad4eac493
X:21444742 CNKSR2 A>G	X	21444742	21444742	A	G	CNKSR2	c.192A>G	NM_014927.4	NP_055742.2:p.(Glu64=)	NC_000023.10:g.21444742A>G	(Likely) benign	1 lab	bad4f4f98a
19:15280977 NOTCH3 T>A	19	15280977	15280977	T	A	NOTCH3	c.5119A>T	NM_000435.2	NP_000426.2:p.(Met1707Leu)	NC_000019.9:g.15280977T>A	VUS	1 lab	bad8305668
3:46023172 FYCO1 T>C	3	46023172	46023172	T	C	FYCO1	c.56-4A>G	NM_024513.3	NP_078789.2:p.?	NC_000003.11:g.46023172T>C	(Likely) benign	1 lab	bad84937e0
1:55319199 DHCR24 G>A	1	55319199	55319199	G	A	DHCR24	c.1305C>T	NM_014762.4	NP_055577.1:p.(Ile435=)	NC_000001.10:g.55319199G>A	(Likely) benign	1 lab	bada067845
17:42083634 NAGS C>T	17	42083634	42083634	C	T	NAGS	c.915+29C>T	NM_153006.2	NP_694551.1:p.?	NC_000017.10:g.42083634C>T	(Likely) benign	1 lab	badacf895f
1:11848139 MTHFR G>A	1	11848139	11848139	G	A	MTHFR	c.*2598C>T	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11848139G>A	(Likely) benign	1 lab	badb12621f
7:19156605 TWIST1 T>C	7	19156605	19156605	T	C	TWIST1	c.340A>G	NM_000474.3	NP_000465.1:p.(Asn114Asp)	NC_000007.13:g.19156605T>C	(Likely) pathogenic	1 lab	badbdc6a96
19:45856532 ERCC2 C>T	19	45856532	45856532	C	T	ERCC2	c.1726G>A	NM_000400.3	NP_000391.1:p.(Glu576Lys)	NC_000019.9:g.45856532C>T	VUS	1 lab	bae43cb8a4
X:48887913 TFE3 G>A	X	48887913	48887913	G	A	TFE3	c.1484C>T	NM_006521.5	NP_006512.2:p.(Pro495Leu)	NC_000023.10:g.48887913G>A	(Likely) benign	1 lab	bae44dfbfa
X:18189185 BEND2 G>A	X	18189185	18189185	G	A	BEND2	c.2121C>T	NM_153346.4	NP_699177.2:p.(Asn707=)	NC_000023.10:g.18189185G>A	(Likely) benign	1 lab	bae492db55
9:2643751 VLDLR G>A	9	2643751	2643751	G	A	VLDLR	c.943+1G>A	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2643751G>A	VUS	1 lab	bae94d053a
1:85666325 SYDE2 G>A	1	85666325	85666325	G	A	SYDE2	c.355C>T	NM_032184.2	NP_115560.1:p.(Pro119Ser)	NC_000001.10:g.85666325G>A	(Likely) benign	1 lab	baea8d2687
22:37499275 TMPRSS6 C>T	22	37499275	37499275	C	T	TMPRSS6	c.210G>A	NM_153609.3	NP_705837.1:p.(Val70=)	NC_000022.10:g.37499275C>T	(Likely) benign	1 lab	baeaba6699
13:103718339 SLC10A2 C>T	13	103718339	103718339	C	T	SLC10A2	c.261G>A	NM_000452.2	NP_000443.1:p.(Ser87=)	NC_000013.10:g.103718339C>T	(Likely) benign	1 lab	baee4cf38d
X:17820122 RAI2 G>A	X	17820122	17820122	G	A	RAI2	c.9C>T	NM_001172743.1	NP_001166214.1:p.(Asp3=)	NC_000023.10:g.17820122G>A	(Likely) benign	1 lab	baee8005f2
15:83349398 AP3B2 T>G	15	83349398	83349398	T	G	AP3B2	c.881A>C	NM_001278512.1	NP_001265441.1:p.(Lys294Thr)	NC_000015.9:g.83349398T>G	(Likely) benign	1 lab	baf088171e
9:141015091 CACNA1B A>G	9	141015091	141015091	A	G	CACNA1B	c.6247A>G	NM_000718.3	NP_000709.1:p.(Ser2083Gly)	NC_000009.11:g.141015091A>G	(Likely) benign	1 lab	baf24b5e30
X:122460015 GRIA3 G>A	X	122460015	122460015	G	A	GRIA3	c.647G>A	NM_000828.4	NP_000819.3:p.(Arg216Gln)	NC_000023.10:g.122460015G>A	VUS	1 lab	baf2f80fdf
20:17489583 BFSP1 C>T	20	17489583	17489583	C	T	BFSP1	c.686G>A	NM_001195.4	NP_001186.1:p.(Arg229Gln)	NC_000020.10:g.17489583C>T	(Likely) benign	1 lab	baf3cc9d96
9:35744638 GBA2 T>C	9	35744638	35744638	T	C	GBA2	c.425A>G	NM_020944.2	NP_065995.1:p.(Asn142Ser)	NC_000009.11:g.35744638T>C	(Likely) benign	1 lab	baf3df868c
X:110951491 ALG13 G>A	X	110951491	110951491	G	A	ALG13	c.386G>A	NM_001257231.1	NP_001244160.1:p.(Gly129Glu)	NC_000023.10:g.110951491G>A	(Likely) benign	1 lab	baf658cb67
20:33331085 NCOA6 T>C	20	33331085	33331085	T	C	NCOA6	c.2975A>G	NM_014071.5	NP_054790.2:p.(Gln992Arg)	NC_000020.10:g.33331085T>C	VUS	1 lab	baf668fd0b
2:179567200 TTN A>G	2	179567200	179567200	A	G	TTN	c.30414T>C	NM_001267550.1	NP_001254479.1:p.(Asn10138=)	NC_000002.11:g.179567200A>G	(Likely) benign	1 lab	baf7a64bf1
8:95878387 INTS8 A>C	8	95878387	95878387	A	C	INTS8	c.2263A>C	NM_017864.3	NP_060334.2:p.(Ser755Arg)	NC_000008.10:g.95878387A>C	VUS	1 lab	baf7daa8ee
X:135767843 ARHGEF6 G>A	X	135767843	135767843	G	A	ARHGEF6	c.1385C>T	NM_004840.2	NP_004831.1:p.(Ala462Val)	NC_000023.10:g.135767843G>A	(Likely) benign	1 lab	baf7fc8744
6:129824398 LAMA2 C>A	6	129824398	129824398	C	A	LAMA2	c.8520C>A	NM_000426.3	NP_000417.2:p.(Thr2840=)	NC_000006.11:g.129824398C>A	(Likely) benign	1 lab	bafac7cf94
7:5781362 RNF216 G>A	7	5781362	5781362	G	A	RNF216	c.286C>T	NM_207111.3	NP_996994.1:p.(Pro96Ser)	NC_000007.13:g.5781362G>A	(Likely) benign	1 lab	bafb5db4ff
4:15504477 CC2D2A C>A	4	15504477	15504477	C	A	CC2D2A	c.369C>A	NM_001080522.2	NP_001073991.2:p.(Ile123=)	NC_000004.11:g.15504477C>A	(Likely) benign	1 lab	bafbee00f2
9:34648755 GALT C>T	9	34648755	34648755	C	T	GALT	c.688-4C>T	NM_000155.3	NP_000146.2:p.?	NC_000009.11:g.34648755C>T	(Likely) benign	1 lab	bafd73b713
18:44140268 LOXHD1 C>T	18	44140268	44140268	C	T	LOXHD1	c.2839G>A	NM_144612.6	NP_653213.6:p.(Asp947Asn)	NC_000018.9:g.44140268C>T	VUS	1 lab	bb01a0bc14
6:56498951 DST A>G	6	56498951	56498951	A	G	DST	c.3501T>C	NM_001144769.2	NP_001138241.1:p.(Ile1167=)	NC_000006.11:g.56498951A>G	(Likely) benign	1 lab	bb032d278b
1:215914751 USH2A G>A	1	215914751	215914751	G	A	USH2A	c.11677C>T	NM_206933.2	NP_996816.2:p.(Pro3893Ser)	NC_000001.10:g.215914751G>A	VUS	1 lab	bb03b86ea7
X:110574174 DCX G>A	X	110574174	110574174	G	A	DCX	c.1147C>T	NM_000555.3	NP_000546.2:p.(Arg383Cys)	NC_000023.10:g.110574174G>A	VUS	1 lab	bb04333646
8:145737821 RECQL4 C>T	8	145737821	145737821	C	T	RECQL4	c.3009G>A	NM_004260.3	NP_004251.3:p.(Val1003=)	NC_000008.10:g.145737821C>T	(Likely) benign	1 lab	bb074aeeee
21:43805593 TMPRSS3 C>A	21	43805593	43805593	C	A	TMPRSS3	c.497G>T	NM_024022.2	NP_076927.1:p.(Arg166Leu)	NC_000021.8:g.43805593C>A	(Likely) benign	1 lab	bb0aa5507f
9:135779082 TSC1 T>A	9	135779082	135779082	T	A	TSC1	c.2164A>T	NM_000368.4	NP_000359.1:p.(Lys722Ter)	NC_000009.11:g.135779082T>A	(Likely) pathogenic	1 lab	bb0b28adcb
12:3149366 TEAD4 A>C	12	3149366	3149366	A	C	TEAD4	c.1132A>C	NM_003213.3	NP_003204.2:p.(Lys378Gln)	NC_000012.11:g.3149366A>C	VUS	1 lab	bb0c2defd2
7:55240780 EGFR G>A	7	55240780	55240780	G	A	EGFR	c.1889G>A	NM_001346899.1	NP_001333828.1:p.(Arg630Gln)	NC_000007.13:g.55240780G>A	VUS	1 lab	bb0c96f604
8:141381277 TRAPPC9 A>G	8	141381277	141381277	A	G	TRAPPC9	c.1110T>C	NM_001321646.1	NP_001308575.1:p.(Leu370=)	NC_000008.10:g.141381277A>G	(Likely) benign	1 lab	bb0d2fea7b
X:117752632 DOCK11 A>G	X	117752632	117752632	A	G	DOCK11	c.3412A>G	NM_144658.3	NP_653259.3:p.(Ile1138Val)	NC_000023.10:g.117752632A>G	(Likely) benign	1 lab	bb0e5bc54b
5:154393909 KIF4B C>T	5	154393909	154393909	C	T	KIF4B	c.490C>T	NM_001099293.2	NP_001092763.1:p.(Arg164Trp)	NC_000005.9:g.154393909C>T	VUS	1 lab	bb0ea8bde3
5:79952279 MSH3 C>T	5	79952279	79952279	C	T	MSH3	c.287C>T	NM_002439.4	NP_002430.3:p.(Pro96Leu)	NC_000005.9:g.79952279C>T	VUS	1 lab	bb10346fbb
9:115200720 HSDL2 C>G	9	115200720	115200720	C	G	HSDL2	c.608C>G	NM_032303.5	NP_115679.2:p.(Thr203Ser)	NC_000009.11:g.115200720C>G	VUS	1 lab	bb113673ab
1:40555144 PPT1 G>T	1	40555144	40555144	G	T	PPT1	c.474C>A	NM_000310.3	NP_000301.1:p.(His158Gln)	NC_000001.10:g.40555144G>T	VUS	1 lab	bb13754852
2:182468661 CERKL C>A	2	182468661	182468661	C	A	CERKL	c.384G>T	NM_001030311.2	NP_001025482.1:p.(Lys128Asn)	NC_000002.11:g.182468661C>A	VUS	1 lab	bb139f060e
2:202082441 CASP10 C>G	2	202082441	202082441	C	G	CASP10	c.1546C>G	NM_032977.3	NP_116759.2:p.(Pro516Ala)	NC_000002.11:g.202082441C>G	VUS	1 lab	bb13d3db4a
19:10218712 PPAN-P2RY11 C>T	19	10218712	10218712	C	T	PPAN-P2RY11	c.415C>T	NM_001198690.1	NP_001185619.1:p.(Pro139Ser)	NC_000019.9:g.10218712C>T	VUS	1 lab	bb158541bb
6:64498055 EYS T>C	6	64498055	64498055	T	C	EYS	c.7666A>G	NM_001142800.1	NP_001136272.1:p.(Ser2556Gly)	NC_000006.11:g.64498055T>C	VUS	1 lab	bb1589964f
16:27760911 KATNIP C>A	16	27760911	27760911	C	A	KATNIP	c.2630C>A	NM_015202.3	NP_056017.3:p.(Thr877Asn)	NC_000016.9:g.27760911C>A	VUS	1 lab	bb161a0c2c
2:220309837 SPEG G>A	2	220309837	220309837	G	A	SPEG	c.769G>A	NM_005876.4	NP_005867.3:p.(Gly257Ser)	NC_000002.11:g.220309837G>A	(Likely) benign	1 lab	bb165fd418
17:29657373 NF1 G>T	17	29657373	29657373	G	T	NF1	c.5606G>T	NM_000267.3	NP_000258.1:p.(Gly1869Val)	NC_000017.10:g.29657373G>T	(Likely) pathogenic	1 lab	bb172e70d3
3:148895723 CP C>T	3	148895723	148895723	C	T	CP	c.2922G>A	NM_000096.3	NP_000087.1:p.(Met974Ile)	NC_000003.11:g.148895723C>T	VUS	1 lab	bb17b58c4a
16:21008722 DNAH3 G>C	16	21008722	21008722	G	C	DNAH3	c.6484C>G	NM_017539.2	NP_060009.1:p.(Gln2162Glu)	NC_000016.9:g.21008722G>C	VUS	1 lab	bb19146edd
11:76867026 MYO7A GC>G	11	76867026	76867028	GC	G	MYO7A	c.361del	NM_000260.4	NP_000251.3:p.(Gln121SerfsTer25)	NC_000011.9:g.76867028del	(Likely) pathogenic	1 lab	bb192db569
17:79478332 ACTG1 G>A	17	79478332	79478332	G	A	ACTG1	c.684C>T	NM_001199954.2	NP_001186883.1:p.(Ala228=)	NC_000017.10:g.79478332G>A	(Likely) benign	1 lab	bb19d4be11
2:47300914 TTC7A G>A	2	47300914	47300914	G	A	TTC7A	c.2501G>A	NM_001288951.1	NP_001275880.1:p.(Ser834Asn)	NC_000002.11:g.47300914G>A	(Likely) benign	1 lab	bb1a74c153
2:202074257 CASP10 T>A	2	202074257	202074257	T	A	CASP10	c.1387T>A	NM_032977.3	NP_116759.2:p.(Cys463Ser)	NC_000002.11:g.202074257T>A	VUS	1 lab	bb1bab74bf
11:6554966 DNHD1 G>A	11	6554966	6554966	G	A	DNHD1	c.2561G>A	NM_144666.2	NP_653267.2:p.(Arg854Gln)	NC_000011.9:g.6554966G>A	(Likely) benign	1 lab	bb1c65e02b
2:152357896 NEB C>T	2	152357896	152357896	C	T	NEB	c.24126+9G>A	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152357896C>T	(Likely) benign	1 lab	bb1fd8cfca
4:6302758 WFS1 C>T	4	6302758	6302758	C	T	WFS1	c.1236C>T	NM_006005.3	NP_005996.2:p.(Val412=)	NC_000004.11:g.6302758C>T	(Likely) benign	1 lab	bb1fe28ac3
16:51175307 SALL1 G>A	16	51175307	51175307	G	A	SALL1	c.826C>T	NM_002968.2	NP_002959.2:p.(Arg276Ter)	NC_000016.9:g.51175307G>A	(Likely) pathogenic	1 lab	bb20ab6b84
X:153585799 FLNA C>T	X	153585799	153585799	C	T	FLNA	c.4945+3G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153585799C>T	(Likely) benign	1 lab	bb20e5195e
2:218682730 TNS1 C>T	2	218682730	218682730	C	T	TNS1	c.4013G>A	NM_022648.5	NP_072174.3:p.(Arg1338Gln)	NC_000002.11:g.218682730C>T	VUS	1 lab	bb23850adc
21:30439885 CCT8 C>A	21	30439885	30439885	C	A	CCT8	c.316G>T	NM_001282907.1	NP_001269836.1:p.(Val106Phe)	NC_000021.8:g.30439885C>A	VUS	1 lab	bb24db25ce
3:25637919 RARB C>T	3	25637919	25637919	C	T	RARB	c.1180C>T	NM_001290216.2	NP_001277145.1:p.(Arg394Cys)	NC_000003.11:g.25637919C>T	(Likely) pathogenic	1 lab	bb2697fe39
12:7177715 C1S C>T	12	7177715	7177715	C	T	C1S	c.1827C>T	NM_201442.3	NP_958850.1:p.(Ala609=)	NC_000012.11:g.7177715C>T	(Likely) benign	1 lab	bb26e5899d
3:164755771 SI A>G	3	164755771	164755771	A	G	SI	c.2343T>C	NM_001041.3	NP_001032.2:p.(Tyr781=)	NC_000003.11:g.164755771A>G	(Likely) benign	1 lab	bb2738aa9a
16:1394279 BAIAP3 C>T	16	1394279	1394279	C	T	BAIAP3	c.1668C>T	NM_003933.4	NP_003924.2:p.(Phe556=)	NC_000016.9:g.1394279C>T	(Likely) benign	1 lab	bb2a380236
9:139393675 NOTCH1 G>A	9	139393675	139393675	G	A	NOTCH1	c.5971C>T	NM_017617.5	NP_060087.3:p.(Arg1991Cys)	NC_000009.11:g.139393675G>A	VUS	1 lab	bb2bc2e48b
10:115344048 HABP2 C>T	10	115344048	115344048	C	T	HABP2	c.1372+7C>T	NM_004132.4	NP_004123.1:p.?	NC_000010.10:g.115344048C>T	(Likely) benign	1 lab	bb2ec72692
1:11188142 MTOR C>T	1	11188142	11188142	C	T	MTOR	c.5952G>A	NM_004958.3	NP_004949.1:p.(Thr1984=)	NC_000001.10:g.11188142C>T	(Likely) benign	1 lab	bb2ee82b73
8:97157223 GDF6 C>G	8	97157223	97157223	C	G	GDF6	c.936G>C	NM_001001557.3	NP_001001557.1:p.(Ser312=)	NC_000008.10:g.97157223C>G	(Likely) benign	1 lab	bb30384205
3:151171421 IGSF10 G>A	3	151171421	151171421	G	A	IGSF10	c.466C>T	NM_178822.4	NP_849144.2:p.(Arg156Cys)	NC_000003.11:g.151171421G>A	VUS	1 lab	bb31e8f8fb
16:2129231 TSC2 C>T	16	2129231	2129231	C	T	TSC2	c.3131+34C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129231C>T	(Likely) benign	1 lab	bb324b4684
4:77096952 SCARB2 G>C	4	77096952	77096952	G	C	SCARB2	c.816C>G	NM_005506.3	NP_005497.1:p.(Asp272Glu)	NC_000004.11:g.77096952G>C	(Likely) benign	1 lab	bb34588d4b
10:95931087 PLCE1 G>A	10	95931087	95931087	G	A	PLCE1	c.1643G>A	NM_016341.3	NP_057425.3:p.(Arg548His)	NC_000010.10:g.95931087G>A	VUS	1 lab	bb3719abdd
22:16449405 OR11H1 C>T	22	16449405	16449405	C	T	OR11H1	c.400G>A	NM_001005239.1	NP_001005239.1:p.(Ala134Thr)	NC_000022.10:g.16449405C>T	(Likely) benign	1 lab	bb37f053ee
7:5353200 TNRC18 C>T	7	5353200	5353200	C	T	TNRC18	c.7322G>A	NM_001080495.2	NP_001073964.2:p.(Arg2441Gln)	NC_000007.13:g.5353200C>T	(Likely) benign	1 lab	bb399f967f
14:104624130 KIF26A G>A	14	104624130	104624130	G	A	KIF26A	c.774G>A	NM_015656.1	NP_056471.1:p.(Thr258=)	NC_000014.8:g.104624130G>A	(Likely) benign	1 lab	bb3ab4a866
17:16852292 TNFRSF13B G>GT	17	16852292	16852293	G	GT	TNFRSF13B	c.204dup	NM_012452.2	NP_036584.1:p.(Leu69ThrfsTer12)	NC_000017.10:g.16852293dup	(Likely) pathogenic	1 lab	bb3d250b7a
4:655950 PDE6B AG>A	4	655950	655951	AG	A	PDE6B	c.1643del	NM_000283.4	NP_000274.3:p.(Ser548ThrfsTer27)	NC_000004.11:g.655951del	(Likely) pathogenic	1 lab	bb3df23e2a
3:195512356 MUC4 G>A	3	195512356	195512356	G	A	MUC4	c.6095C>T	NM_018406.6	NP_060876.5:p.(Pro2032Leu)	NC_000003.11:g.195512356G>A	(Likely) benign	1 lab	bb3f24cbcf
X:8507735 ANOS1 G>A	X	8507735	8507735	G	A	ANOS1	c.1419C>T	NM_000216.3	NP_000207.2:p.(Thr473=)	NC_000023.10:g.8507735G>A	(Likely) benign	1 lab	bb408e0ea2
10:123274644 FGFR2 C>T	10	123274644	123274644	C	T	FGFR2	c.1274G>A	NM_000141.4	NP_000132.3:p.(Arg425Gln)	NC_000010.10:g.123274644C>T	(Likely) benign	1 lab	bb410ceb06
22:37771140 ELFN2 G>A	22	37771140	37771140	G	A	ELFN2	c.435C>T	NM_052906.5	NP_443138.2:p.(Thr145=)	NC_000022.10:g.37771140G>A	(Likely) benign	1 lab	bb411d6559
1:115456661 SYCP1 A>G	1	115456661	115456661	A	G	SYCP1	c.1713A>G	NM_001282541.1	NP_001269470.1:p.(Gln571=)	NC_000001.10:g.115456661A>G	(Likely) benign	1 lab	bb4198fe55
17:29563008 NF1 C>T	17	29563008	29563008	C	T	NF1	c.3943C>T	NM_000267.3	NP_000258.1:p.(Gln1315Ter)	NC_000017.10:g.29563008C>T	(Likely) pathogenic	1 lab	bb4236c8a3
X:134989946 SAGE1 G>A	X	134989946	134989946	G	A	SAGE1	c.1105G>A	NM_018666.2	NP_061136.2:p.(Gly369Arg)	NC_000023.10:g.134989946G>A	(Likely) benign	1 lab	bb43121283
12:32945415 PKP2 C>T	12	32945415	32945415	C	T	PKP2	c.2589G>A	NM_004572.3	NP_004563.2:p.(Lys863=)	NC_000012.11:g.32945415C>T	(Likely) benign	1 lab	bb4362a9ae
19:38973723 RYR1 C>T	19	38973723	38973723	C	T	RYR1	c.4677C>T	NM_000540.2	NP_000531.2:p.(Asn1559=)	NC_000019.9:g.38973723C>T	(Likely) benign	1 lab	bb439b001e
6:152841583 SYNE1 TTC>T	6	152841583	152841590	TTC	T	SYNE1	c.309+9_309+10del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152841589_152841590del	(Likely) benign	1 lab	bb447d5f61
1:209791380 LAMB3 C>T	1	209791380	209791380	C	T	LAMB3	c.2923G>A	NM_001017402.1	NP_001017402.1:p.(Ala975Thr)	NC_000001.10:g.209791380C>T	(Likely) benign	1 lab	bb456ada2d
9:22008739 CDKN2B G>A	9	22008739	22008739	G	A	CDKN2B	c.214C>T	NM_078487.2	NP_511042.1:p.(Arg72Trp)	NC_000009.11:g.22008739G>A	VUS	1 lab	bb4670b418
2:198571903 MARS2 C>T	2	198571903	198571903	C	T	MARS2	c.1774C>T	NM_138395.3	NP_612404.1:p.(Arg592Trp)	NC_000002.11:g.198571903C>T	VUS	1 lab	bb47792dd3
4:187000074 TLR3 A>C	4	187000074	187000074	A	C	TLR3	c.522A>C	NM_003265.2	NP_003256.1:p.(Gln174His)	NC_000004.11:g.187000074A>C	(Likely) benign	1 lab	bb47a910a8
X:25028293 ARX A>AC	X	25028293	25028300	A	AC	ARX	c.1119+83dup	NM_139058.2	NP_620689.1:p.?	NC_000023.10:g.25028300dup	(Likely) benign	1 lab	bb481ecb1b
2:46372292 PRKCE C>T	2	46372292	46372292	C	T	PRKCE	c.1653C>T	NM_005400.3	NP_005391.1:p.(Phe551=)	NC_000002.11:g.46372292C>T	(Likely) benign	1 lab	bb4ab7c8b4
2:202626386 ALS2 C>T	2	202626386	202626386	C	T	ALS2	c.331G>A	NM_020919.3	NP_065970.2:p.(Val111Ile)	NC_000002.11:g.202626386C>T	VUS	1 lab	bb4c2eec53
12:57442130 MYO1A G>A	12	57442130	57442130	G	A	MYO1A	c.-20-3C>T	NM_001256041.1	NP_001242970.1:p.?	NC_000012.11:g.57442130G>A	(Likely) benign	1 lab	bb4d7f49eb
17:29652946 NF1 CG>C	17	29652946	29652949	CG	C	NF1	c.4947del	NM_001042492.3	NP_001035957.1:p.(Pro1650LeufsTer48)	NC_000017.10:g.29652949del	(Likely) pathogenic	1 lab	bb4fc4f507
19:45452036 APOC2 CCA>C	19	45452036	45452038	CCA	C	APOC2	c.135_136del	NM_000483.5	NP_000474.2:p.(Ser46LeufsTer23)	NC_000019.9:g.45452037_45452038del	(Likely) pathogenic	1 lab	bb502fd4cb
19:23040510 ZNF723 A>G	19	23040510	23040510	A	G	ZNF723	c.817A>G	NM_001349726.1	NP_001336655.1:p.(Asn273Asp)	NC_000019.9:g.23040510A>G	VUS	1 lab	bb5436d4e1
14:100402361 EML1 TA>T	14	100402361	100402362	TA	T	EML1	c.1910-4del	NM_004434.3	NP_004425.2:p.?	NC_000014.8:g.100402362del	(Likely) benign	1 lab	bb55299158
1:2319772 MORN1 G>A	1	2319772	2319772	G	A	MORN1	c.153C>T	NM_024848.3	NP_079124.1:p.(His51=)	NC_000001.10:g.2319772G>A	(Likely) benign	1 lab	bb55877a86
16:89260222 CDH15 G>T	16	89260222	89260222	G	T	CDH15	c.2052G>T	NM_004933.2	NP_004924.1:p.(Pro684=)	NC_000016.9:g.89260222G>T	(Likely) benign	1 lab	bb567c96da
13:111158983 COL4A2 C>G	13	111158983	111158983	C	G	COL4A2	c.4594+30C>G	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111158983C>G	(Likely) benign	1 lab	bb5754f46f
17:29701202 NF1 A>G	17	29701202	29701202	A	G	NF1	c.*29A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29701202A>G	VUS	1 lab	bb5767f697
8:10467059 RP1L1 T>A	8	10467059	10467059	T	A	RP1L1	c.4549A>T	NM_178857.5	NP_849188.4:p.(Ile1517Phe)	NC_000008.10:g.10467059T>A	VUS	1 lab	bb5a210f69
11:47363736 MYBPC3 C>T	11	47363736	47363736	C	T	MYBPC3	c.1625-29G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363736C>T	(Likely) benign	1 lab	bb5c54ea33
19:11319772 DOCK6 G>A	19	11319772	11319772	G	A	DOCK6	c.4759C>T	NM_020812.3	NP_065863.2:p.(Arg1587Trp)	NC_000019.9:g.11319772G>A	VUS	1 lab	bb5c904de6
17:78078749 GAA A>G	17	78078749	78078749	A	G	GAA	c.364A>G	NM_000152.3	NP_000143.2:p.(Met122Val)	NC_000017.10:g.78078749A>G	(Likely) benign	1 lab	bb5d02b6e3
10:30638183 MTPAP G>C	10	30638183	30638183	G	C	MTPAP	c.22C>G	NM_018109.3	NP_060579.3:p.(Leu8Val)	NC_000010.10:g.30638183G>C	(Likely) benign	1 lab	bb5d450ba9
11:1272258 MUC5B C>T	11	1272258	1272258	C	T	MUC5B	c.14148C>T	NM_002458.2	NP_002449.2:p.(Pro4716=)	NC_000011.9:g.1272258C>T	(Likely) benign	1 lab	bb5ede560b
X:117043622 KLHL13 C>T	X	117043622	117043622	C	T	KLHL13	c.1008G>A	NM_033495.3	NP_277030.2:p.(Arg336=)	NC_000023.10:g.117043622C>T	(Likely) benign	1 lab	bb5f566aa6
2:152466343 NEB C>A	2	152466343	152466343	C	A	NEB	c.12310G>T	NM_001271208.1	NP_001258137.1:p.(Ala4104Ser)	NC_000002.11:g.152466343C>A	VUS	1 lab	bb619ddc87
6:135813435 AHI1 G>A	6	135813435	135813435	G	A	AHI1	c.-54-6C>T	NM_001134831.1	NP_001128303.1:p.?	NC_000006.11:g.135813435G>A	(Likely) benign	1 lab	bb628c18d0
6:117591924 VGLL2 C>A	6	117591924	117591924	C	A	VGLL2	c.610C>A	NM_182645.3	NP_872586.1:p.(Pro204Thr)	NC_000006.11:g.117591924C>A	(Likely) benign	1 lab	bb6340705f
17:29586229 NF1 AT>A	17	29586229	29586230	AT	A	NF1	c.4430+83del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29586230del	(Likely) benign	1 lab	bb64639252
18:29102103 DSG2 C>T	18	29102103	29102103	C	T	DSG2	c.581C>T	NM_001943.3	NP_001934.2:p.(Ser194Leu)	NC_000018.9:g.29102103C>T	VUS	1 lab	bb66251e6c
10:26463374 MYO3A A>G	10	26463374	26463374	A	G	MYO3A	c.4181A>G	NM_017433.5	NP_059129.3:p.(Tyr1394Cys)	NC_000010.10:g.26463374A>G	VUS	1 lab	bb676281cf
4:184931514 STOX2 C>T	4	184931514	184931514	C	T	STOX2	c.1523C>T	NM_020225.3	NP_064610.1:p.(Thr508Met)	NC_000004.11:g.184931514C>T	VUS	1 lab	bb6a15bc63
16:2122365 TSC2 G>A	16	2122365	2122365	G	A	TSC2	c.2220+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122365G>A	(Likely) pathogenic	1 lab	dd0dfae9c1
4:151827056 LRBA G>T	4	151827056	151827056	G	T	LRBA	c.1689C>A	NM_001199282.2	NP_001186211.2:p.(Pro563=)	NC_000004.11:g.151827056G>T	(Likely) benign	1 lab	bb6b5d7b0e
8:145583275 SLC52A2 C>T	8	145583275	145583275	C	T	SLC52A2	c.131-8C>T	NM_001363118.1	NP_001350047.1:p.?	NC_000008.10:g.145583275C>T	(Likely) benign	1 lab	bb6bea00e6
17:18023438 MYO15A G>A	17	18023438	18023438	G	A	MYO15A	c.1324G>A	NM_016239.3	NP_057323.3:p.(Gly442Ser)	NC_000017.10:g.18023438G>A	VUS	1 lab	bb6bf4b7c2
1:34046415 CSMD2 A>G	1	34046415	34046415	A	G	CSMD2	c.7325T>C	NM_001281956.1	NP_001268885.1:p.(Val2442Ala)	NC_000001.10:g.34046415A>G	VUS	1 lab	bb6c7f6df9
7:91865757 KRIT1 A>C	7	91865757	91865757	A	C	KRIT1	c.455T>G	NM_004912.4	NP_004903.2:p.(Leu152Arg)	NC_000007.13:g.91865757A>C	VUS	1 lab	bb6d147eae
2:232081369 ARMC9 G>A	2	232081369	232081369	G	A	ARMC9	c.367G>A	NM_001271466.3	NP_001258395.1:p.(Glu123Lys)	NC_000002.11:g.232081369G>A	VUS	1 lab	bb6d35d31e
6:31918104 CFB G>A	6	31918104	31918104	G	A	CFB	c.1548G>A	NM_001710.5	NP_001701.2:p.(Val516=)	NC_000006.11:g.31918104G>A	(Likely) benign	1 lab	bb6d7a3f71
4:183267869 TENM3 T>G	4	183267869	183267869	T	G	TENM3	c.298T>G	NM_001080477.3	NP_001073946.1:p.(Cys100Gly)	NC_000004.11:g.183267869T>G	(Likely) benign	1 lab	bb6e40de0f
10:97620237 ENTPD1 T>C	10	97620237	97620237	T	C	ENTPD1	c.1086T>C	NM_001776.6	NP_001767.3:p.(Ala362=)	NC_000010.10:g.97620237T>C	(Likely) benign	1 lab	bb700749b8
16:2126150 TSC2 T>AG	16	2126150	2126150	T	AG	TSC2	c.2721delinsAG	NM_000548.3	NP_000539.2:p.(Asp907GlufsTer8)	NC_000016.9:g.2126150delinsAG	(Likely) pathogenic	1 lab	bb70127d09
6:138640905 ARFGEF3 C>T	6	138640905	138640905	C	T	ARFGEF3	c.4540C>T	NM_020340.5	NP_065073.3:p.(Arg1514Trp)	NC_000006.11:g.138640905C>T	VUS	1 lab	bb73ef76c8
16:16244010 ABCC6 G>A	16	16244010	16244010	G	A	ABCC6	c.4492C>T	NM_001171.5	NP_001162.4:p.(Gln1498Ter)	NC_000016.9:g.16244010G>A	(Likely) pathogenic	1 lab	bb73fed6c9
6:7559632 DSP G>A	6	7559632	7559632	G	A	DSP	c.596G>A	NM_004415.2	NP_004406.2:p.(Arg199Lys)	NC_000006.11:g.7559632G>A	(Likely) benign	1 lab	bb74fe4c14
1:210194565 SYT14 T>C	1	210194565	210194565	T	C	SYT14	c.294T>C	NM_001256006.1	NP_001242935.1:p.(Tyr98=)	NC_000001.10:g.210194565T>C	(Likely) benign	1 lab	bb75b34a55
8:38940157 ADAM9 C>T	8	38940157	38940157	C	T	ADAM9	c.1882-3C>T	NM_003816.2	NP_003807.1:p.?	NC_000008.10:g.38940157C>T	(Likely) benign	1 lab	bb78178b0f
17:80041854 FASN C>T	17	80041854	80041854	C	T	FASN	c.5095G>A	NM_004104.5	NP_004095.4:p.(Val1699Met)	NC_000017.10:g.80041854C>T	VUS	1 lab	bb7a0743dc
4:1795796 FGFR3 G>A	4	1795796	1795796	G	A	FGFR3	c.109+26G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1795796G>A	(Likely) benign	1 lab	bb7af3acaa
11:102100592 YAP1 G>A	11	102100592	102100592	G	A	YAP1	c.1448G>A	NM_001282101.1	NP_001269030.1:p.(Ser483Asn)	NC_000011.9:g.102100592G>A	VUS	1 lab	bb7af9d61b
17:56283449 MKS1 C>G	17	56283449	56283449	C	G	MKS1	c.1671G>C	NM_017777.3	NP_060247.2:p.(Leu557=)	NC_000017.10:g.56283449C>G	(Likely) benign	1 lab	bb7d97ece6
16:87925534 CA5A G>A	16	87925534	87925534	G	A	CA5A	c.645C>T	NM_001739.2	NP_001730.1:p.(Phe215=)	NC_000016.9:g.87925534G>A	(Likely) benign	1 lab	bb7df01a25
2:135223773 TMEM163 G>C	2	135223773	135223773	G	C	TMEM163	c.579C>G	NM_030923.5	NP_112185.1:p.(Ser193=)	NC_000002.11:g.135223773G>C	(Likely) benign	1 lab	bb7e37feb3
14:105174104 INF2 G>C	14	105174104	105174104	G	C	INF2	c.1500G>C	NM_022489.3	NP_071934.3:p.(Pro500=)	NC_000014.8:g.105174104G>C	(Likely) benign	1 lab	bb7ee83d34
X:63488522 MTMR8 CAA>C	X	63488522	63488524	CAA	C	MTMR8	c.2008_2009del	NM_017677.4	NP_060147.2:p.(Leu670GlyfsTer4)	NC_000023.10:g.63488523_63488524del	VUS	1 lab	bb8260d684
1:28800530 PHACTR4 C>T	1	28800530	28800530	C	T	PHACTR4	c.1288C>T	NM_001048183.3	NP_001041648.1:p.(Pro430Ser)	NC_000001.10:g.28800530C>T	VUS	1 lab	bb82b6b115
2:109368412 RANBP2 G>A	2	109368412	109368412	G	A	RANBP2	c.1717G>A	NM_006267.4	NP_006258.3:p.(Ala573Thr)	NC_000002.11:g.109368412G>A	VUS	1 lab	bb83d71a3e
16:89347217 ANKRD11 C>T	16	89347217	89347217	C	T	ANKRD11	c.5733G>A	NM_001256182.1	NP_001243111.1:p.(Leu1911=)	NC_000016.9:g.89347217C>T	(Likely) benign	1 lab	bb88c01cc1
2:170099591 LRP2 G>T	2	170099591	170099591	G	T	LRP2	c.3551-9C>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170099591G>T	(Likely) benign	1 lab	bb8a0ec664
3:49456456 AMT A>T	3	49456456	49456456	A	T	AMT	c.825T>A	NM_000481.3	NP_000472.2:p.(Asn275Lys)	NC_000003.11:g.49456456A>T	VUS	1 lab	bb8a5a67d7
X:50350698 SHROOM4 CTCCTCT>C	X	50350698	50350718	CTCCTCT	C	SHROOM4	c.3438_3443del	NM_020717.5	NP_065768.2:p.(Glu1150_Glu1151del)	NC_000023.10:g.50350713_50350718del	VUS	1 lab	bb8b15d35d
22:38120653 TRIOBP G>T	22	38120653	38120653	G	T	TRIOBP	c.2090G>T	NM_001039141.2	NP_001034230.1:p.(Arg697Ile)	NC_000022.10:g.38120653G>T	VUS	1 lab	bb8b88be43
15:85407795 ALPK3 C>T	15	85407795	85407795	C	T	ALPK3	c.5228C>T	NM_020778.4	NP_065829.3:p.(Pro1743Leu)	NC_000015.9:g.85407795C>T	(Likely) benign	1 lab	bb8bb0be88
3:53223225 PRKCD G>A	3	53223225	53223225	G	A	PRKCD	c.1706G>A	NM_006254.4	NP_006245.2:p.(Arg569His)	NC_000003.11:g.53223225G>A	VUS	1 lab	bb8c3b1043
X:119249510 RHOXF1 G>C	X	119249510	119249510	G	C	RHOXF1	c.263C>G	NM_139282.2	NP_644811.1:p.(Pro88Arg)	NC_000023.10:g.119249510G>C	(Likely) benign	1 lab	bb908427f3
X:13778374 OFD1 G>A	X	13778374	13778374	G	A	OFD1	c.1795G>A	NM_003611.2	NP_003602.1:p.(Val599Ile)	NC_000023.10:g.13778374G>A	VUS	1 lab	bb9093db73
5:176678849 NSD1 G>A	5	176678849	176678849	G	A	NSD1	c.4760G>A	NM_022455.4	NP_071900.2:p.(Arg1587His)	NC_000005.9:g.176678849G>A	(Likely) benign	1 lab	bb909ac6df
1:983550 AGRN G>A	1	983550	983550	G	A	AGRN	c.3910G>A	NM_001305275.2	NP_001292204.1:p.(Ala1304Thr)	NC_000001.10:g.983550G>A	VUS	1 lab	bb90b5f75d
5:13721137 DNAH5 C>T	5	13721137	13721137	C	T	DNAH5	c.12251G>A	NM_001369.2	NP_001360.1:p.(Arg4084Gln)	NC_000005.9:g.13721137C>T	VUS	1 lab	bb9160e64c
20:49552688 DPM1 G>A	20	49552688	49552688	G	A	DPM1	c.780C>T	NM_001317034.1	NP_001303963.1:p.(Gly260=)	NC_000020.10:g.49552688G>A	VUS	1 lab	bb91823f53
5:179250884 SQSTM1 C>T	5	179250884	179250884	C	T	SQSTM1	c.76C>T	NM_001142298.1	NP_001135770.1:p.(Arg26Cys)	NC_000005.9:g.179250884C>T	VUS	1 lab	bb92b7aed4
13:86370380 SLITRK6 G>T	13	86370380	86370380	G	T	SLITRK6	c.264C>A	NM_032229.3	NP_115605.2:p.(Thr88=)	NC_000013.10:g.86370380G>T	(Likely) benign	1 lab	bb9330782f
X:103359769 ZCCHC18 A>G	X	103359769	103359769	A	G	ZCCHC18	c.967A>G	NM_001143978.3	NP_001137450.1:p.(Thr323Ala)	NC_000023.10:g.103359769A>G	(Likely) benign	1 lab	bb943ae140
8:1808078 ARHGEF10 C>T	8	1808078	1808078	C	T	ARHGEF10	c.281C>T	NM_001308153.1	NP_001295082.1:p.(Ala94Val)	NC_000008.10:g.1808078C>T	(Likely) benign	1 lab	bb969c4063
1:160786416 LY9 C>T	1	160786416	160786416	C	T	LY9	c.1105C>T	NM_002348.4	NP_002339.2:p.(Leu369Phe)	NC_000001.10:g.160786416C>T	(Likely) benign	1 lab	bb9720a187
16:2138533 TSC2 C>T	16	2138533	2138533	C	T	TSC2	c.5277C>T	NM_001114382.2	NP_001107854.1:p.(Ala1759=)	NC_000016.9:g.2138533C>T	(Likely) benign	1 lab	bb9867cbe6
X:40594720 MED14OS C>G	X	40594720	40594720	C	G	MED14OS	c.20C>G	NM_001289773.1	NP_001276702.1:p.(Pro7Arg)	NC_000023.10:g.40594720C>G	VUS	1 lab	bb990d4160
17:7915539 GUCY2D C>T	17	7915539	7915539	C	T	GUCY2D	c.1827C>T	NM_000180.3	NP_000171.1:p.(Ala609=)	NC_000017.10:g.7915539C>T	(Likely) benign	1 lab	bb99a1508e
2:234243663 SAG C>T	2	234243663	234243663	C	T	SAG	c.862C>T	NM_000541.4	NP_000532.2:p.(Leu288=)	NC_000002.11:g.234243663C>T	(Likely) benign	1 lab	bb9a974bc9
X:72433773 NAP1L2 A>T	X	72433773	72433773	A	T	NAP1L2	c.556T>A	NM_021963.3	NP_068798.1:p.(Tyr186Asn)	NC_000023.10:g.72433773A>T	(Likely) benign	1 lab	bb9ab627d9
17:29541467 NF1 A>G	17	29541467	29541467	A	G	NF1	c.1393-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29541467A>G	(Likely) pathogenic	1 lab	bb9cbd3586
2:1500365 TPO AGAC>A	2	1500365	1500371	AGAC	A	TPO	c.2218_2220del	NM_001206744.2	NP_001193673.1:p.(Asp740del)	NC_000002.11:g.1500369_1500371del	VUS	1 lab	bba180784a
6:133785991 EYA4 C>T	6	133785991	133785991	C	T	EYA4	c.799C>T	NM_004100.4	NP_004091.3:p.(Gln267Ter)	NC_000006.11:g.133785991C>T	(Likely) pathogenic	1 lab	bba1f6e721
6:111680068 REV3L T>C	6	111680068	111680068	T	C	REV3L	c.6795A>G	NM_001286431.1	NP_001273360.1:p.(Thr2265=)	NC_000006.11:g.111680068T>C	(Likely) benign	1 lab	bba2095eb8
19:12924254 RNASEH2A G>A	19	12924254	12924254	G	A	RNASEH2A	c.874G>A	NM_006397.2	NP_006388.2:p.(Gly292Ser)	NC_000019.9:g.12924254G>A	VUS	1 lab	bba297ba1e
17:33903202 PEX12 T>G	17	33903202	33903202	T	G	PEX12	c.681-2A>C	NM_000286.2	NP_000277.1:p.?	NC_000017.10:g.33903202T>G	(Likely) pathogenic	1 lab	bba4af4984
1:155447868 MISSING G>A	1	155447868	155447868	G	A	MISSING				NC_000001.10:g.155447868G>A	(Likely) benign	1 lab	bba5ff09d0
7:5097029 RBAK A>C	7	5097029	5097029	A	C	RBAK	c.119A>C	NM_021163.3	NP_066986.1:p.(Asn40Thr)	NC_000007.13:g.5097029A>C	(Likely) benign	1 lab	bba64e9fa7
15:44951399 SPG11 T>A	15	44951399	44951399	T	A	SPG11	c.545A>T	NM_025137.3	NP_079413.3:p.(Asp182Val)	NC_000015.9:g.44951399T>A	(Likely) benign	1 lab	bba6da7615
17:41244439 BRCA1 T>TA	17	41244439	41244444	T	TA	BRCA1	c.3108dup	NM_007294.3	NP_009225.1:p.(Lys1037Ter)	NC_000017.10:g.41244444dup	(Likely) pathogenic	1 lab	bba973d0ab
5:76708046 PDE8B C>A	5	76708046	76708046	C	A	PDE8B	c.1698C>A	NM_003719.3	NP_003710.1:p.(Ala566=)	NC_000005.9:g.76708046C>A	(Likely) benign	1 lab	bba9ab3baf
19:42797227 CIC T>C	19	42797227	42797227	T	C	CIC	c.6316T>C	NM_001304815.1	NP_001291744.1:p.(Ser2106Pro)	NC_000019.9:g.42797227T>C	(Likely) benign	1 lab	bbab43986a
1:65858501 DNAJC6 G>T	1	65858501	65858501	G	T	DNAJC6	c.1856G>T	NM_001256864.2	NP_001243793.1:p.(Arg619Leu)	NC_000001.10:g.65858501G>T	VUS	1 lab	bbac85e1d5
16:84488507 ATP2C2 G>A	16	84488507	84488507	G	A	ATP2C2	c.2064G>A	NM_001286527.2	NP_001273456.2:p.(Gly688=)	NC_000016.9:g.84488507G>A	(Likely) benign	1 lab	bbaf8ff9fd
16:57687131 ADGRG1 C>T	16	57687131	57687131	C	T	ADGRG1	c.504C>T	NM_001145772.2	NP_001139244.1:p.(Ala168=)	NC_000016.9:g.57687131C>T	(Likely) benign	1 lab	bbaff7caa6
2:232888977 DIS3L2 TG>T	2	232888977	232888978	TG	T	DIS3L2	c.211-9del	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232888978del	(Likely) benign	1 lab	bbb0e12fbb
9:128083802 GAPVD1 T>G	9	128083802	128083802	T	G	GAPVD1	c.1693T>G	NM_001282680.2	NP_001269609.1:p.(Phe565Val)	NC_000009.11:g.128083802T>G	VUS	1 lab	bbb162b7b1
6:160969576 LPA CTG>C	6	160969576	160969581	CTG	C	LPA	c.5087_5088del	NM_005577.4	NP_005568.2:p.(Thr1696ArgfsTer21)	NC_000006.11:g.160969580_160969581del	VUS	1 lab	bbb2368629
3:128621432 ACAD9 A>G	3	128621432	128621432	A	G	ACAD9	c.919A>G	NM_014049.4	NP_054768.2:p.(Met307Val)	NC_000003.11:g.128621432A>G	VUS	1 lab	bbb4209cce
7:138524888 KIAA1549 C>T	7	138524888	138524888	C	T	KIAA1549	c.5588G>A	NM_001164665.1	NP_001158137.1:p.(Arg1863Gln)	NC_000007.13:g.138524888C>T	VUS	1 lab	bbb43f7269
2:98928336 VWA3B G>A	2	98928336	98928336	G	A	VWA3B	c.3576G>A	NM_144992.4	NP_659429.4:p.(Ala1192=)	NC_000002.11:g.98928336G>A	(Likely) benign	1 lab	bbb4c8a604
6:129419330 LAMA2 G>A	6	129419330	129419330	G	A	LAMA2	c.409G>A	NM_000426.3	NP_000417.2:p.(Ala137Thr)	NC_000006.11:g.129419330G>A	VUS	1 lab	bbb5af3449
11:58190113 OR5B2 C>CA	11	58190113	58190119	C	CA	OR5B2	c.621dup	NM_001005566.2	NP_001005566.1:p.(Val208CysfsTer23)	NC_000011.9:g.58190119dup	VUS	1 lab	bbb5e84c5b
9:133946915 LAMC3 C>G	9	133946915	133946915	C	G	LAMC3	c.3114C>G	NM_006059.3	NP_006050.3:p.(Leu1038=)	NC_000009.11:g.133946915C>G	(Likely) benign	1 lab	bbb64fc9c8
X:128701290 OCRL G>A	X	128701290	128701290	G	A	OCRL	c.1419G>A	NM_001318784.1	NP_001305713.1:p.(Lys473=)	NC_000023.10:g.128701290G>A	(Likely) benign	1 lab	bbb676a9e9
6:31937174 SKIC2 G>A	6	31937174	31937174	G	A	SKIC2	c.3517G>A	NM_006929.4	NP_008860.4:p.(Val1173Ile)	NC_000006.11:g.31937174G>A	VUS	1 lab	bbb6c26fc5
7:128496685 FLNC C>A	7	128496685	128496685	C	A	FLNC	c.7365C>A	NM_001458.4	NP_001449.3:p.(Tyr2455Ter)	NC_000007.13:g.128496685C>A	(Likely) pathogenic	1 lab	bbb782e55f
5:82779395 VCAN G>A	5	82779395	82779395	G	A	VCAN	c.58G>A	NM_004385.4	NP_004376.2:p.(Ala20Thr)	NC_000005.9:g.82779395G>A	VUS	1 lab	bbba36b803
X:63445517 ASB12 A>C	X	63445517	63445517	A	C	ASB12	c.14T>G	NM_130388.3	NP_569059.3:p.(Leu5Arg)	NC_000023.10:g.63445517A>C	VUS	1 lab	bbba669751
19:50368450 PNKP G>T	19	50368450	50368450	G	T	PNKP	c.432C>A	NM_007254.3	NP_009185.2:p.(Asn144Lys)	NC_000019.9:g.50368450G>T	(Likely) benign	1 lab	bbbce67e49
20:62321799 RTEL1 G>A	20	62321799	62321799	G	A	RTEL1	c.2413+5G>A	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62321799G>A	VUS	1 lab	bbbd4f3bad
9:131037693 SWI5 G>C	9	131037693	131037693	G	C	SWI5	c.7G>C	NM_001318092.1	NP_001305021.1:p.(Glu3Gln)	NC_000009.11:g.131037693G>C	VUS	1 lab	bbbd50ce8b
20:19915763 RIN2 G>A	20	19915763	19915763	G	A	RIN2	c.225G>A	NM_001242581.1	NP_001229510.1:p.(Ser75=)	NC_000020.10:g.19915763G>A	(Likely) benign	1 lab	bbbd9ee9cf
17:17700557 RAI1 C>T	17	17700557	17700557	C	T	RAI1	c.4295C>T	NM_030665.3	NP_109590.3:p.(Pro1432Leu)	NC_000017.10:g.17700557C>T	VUS	1 lab	bbc0e4d56c
5:86564652 RASA1 C>T	5	86564652	86564652	C	T	RASA1	c.384C>T	NM_002890.2	NP_002881.1:p.(Leu128=)	NC_000005.9:g.86564652C>T	(Likely) benign	1 lab	bbc108c8d2
X:3228973 MXRA5 G>A	X	3228973	3228973	G	A	MXRA5	c.7271C>T	NM_015419.3	NP_056234.2:p.(Ala2424Val)	NC_000023.10:g.3228973G>A	VUS	1 lab	bbc708b69e
5:13876874 DNAH5 G>T	5	13876874	13876874	G	T	DNAH5	c.3315C>A	NM_001369.2	NP_001360.1:p.(Asn1105Lys)	NC_000005.9:g.13876874G>T	VUS	1 lab	bbc8eda4be
16:70902527 HYDIN G>C	16	70902527	70902527	G	C	HYDIN	c.11256C>G	NM_001270974.2	NP_001257903.1:p.(Val3752=)	NC_000016.9:g.70902527G>C	(Likely) benign	1 lab	bbca680341
3:42781138 CCDC13 G>A	3	42781138	42781138	G	A	CCDC13	c.1152C>T	NM_144719.3	NP_653320.3:p.(Ile384=)	NC_000003.11:g.42781138G>A	(Likely) benign	1 lab	bbd0997b0f
9:135779100 TSC1 TC>T	9	135779100	135779102	TC	T	TSC1	c.2145del	NM_000368.5	NP_000359.1:p.(Asn716ThrfsTer8)	NC_000009.11:g.135779102del	(Likely) pathogenic	1 lab	bbd09b42d3
2:179431879 TTN C>A	2	179431879	179431879	C	A	TTN	c.78980G>T	NM_001267550.1	NP_001254479.1:p.(Arg26327Leu)	NC_000002.11:g.179431879C>A	VUS	1 lab	bbd0ea71a1
10:67829259 CTNNA3 G>A	10	67829259	67829259	G	A	CTNNA3	c.1978-12C>T	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.67829259G>A	(Likely) benign	1 lab	bbd0fd3b6d
X:66766413 AR GG>CT	X	66766413	66766414	GG	CT	AR	c.1425_1426delinsCT	NM_000044.4	NP_000035.2:p.(Gly476Ter)	NC_000023.10:g.66766413_66766414delinsCT	(Likely) pathogenic	1 lab	bbd227901d
20:3870253 PANK2 G>C	20	3870253	3870253	G	C	PANK2	c.506G>C	NM_153638.2	NP_705902.2:p.(Ser169Thr)	NC_000020.10:g.3870253G>C	(Likely) benign	1 lab	bbd35f1888
16:2127816 TSC2 C>CTCA	16	2127816	2127821	C	CTCA	TSC2	c.2966+92_2966+94dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2127819_2127821dup	(Likely) benign	1 lab	bbd43001e7
18:13049077 CEP192 C>T	18	13049077	13049077	C	T	CEP192	c.2287C>T	NM_032142.4	NP_115518.3:p.(Arg763Cys)	NC_000018.9:g.13049077C>T	(Likely) benign	1 lab	bbd57ee583
15:62168050 VPS13C A>G	15	62168050	62168050	A	G	VPS13C	c.10225-6T>C	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62168050A>G	(Likely) benign	1 lab	bbd5c8b190
21:46330194 ITGB2 C>T	21	46330194	46330194	C	T	ITGB2	c.147+5G>A	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46330194C>T	(Likely) benign	1 lab	bbd6755456
12:2566839 CACNA1C C>T	12	2566839	2566839	C	T	CACNA1C	c.724C>T	NM_199460.3	NP_955630.3:p.(Leu242=)	NC_000012.11:g.2566839C>T	(Likely) benign	1 lab	bbd769f4bb
1:22217107 HSPG2 G>C	1	22217107	22217107	G	C	HSPG2	c.325C>G	NM_001291860.1	NP_001278789.1:p.(Arg109Gly)	NC_000001.10:g.22217107G>C	(Likely) benign	1 lab	bbd7fb5e72
13:23911720 SACS G>A	13	23911720	23911720	G	A	SACS	c.6295C>T	NM_014363.5	NP_055178.3:p.(Pro2099Ser)	NC_000013.10:g.23911720G>A	VUS	1 lab	bbd845a8e0
12:88520123 CEP290 A>G	12	88520123	88520123	A	G	CEP290	c.1035T>C	NM_025114.3	NP_079390.3:p.(Ala345=)	NC_000012.11:g.88520123A>G	(Likely) benign	1 lab	bbd85f00b7
4:39246160 WDR19 G>A	4	39246160	39246160	G	A	WDR19	c.2633G>A	NM_025132.3	NP_079408.3:p.(Arg878His)	NC_000004.11:g.39246160G>A	VUS	1 lab	bbd9f32c2d
10:73574912 CDH23 G>A	10	73574912	73574912	G	A	CDH23	c.9942G>A	NM_022124.5	NP_071407.4:p.(Thr3314=)	NC_000010.10:g.73574912G>A	(Likely) benign	1 lab	bbda2ba3ef
11:67810900 TCIRG1 C>A	11	67810900	67810900	C	A	TCIRG1				NC_000011.9:g.67810900C>A	VUS	1 lab	bbdabbf328
15:89388871 ACAN G>C	15	89388871	89388871	G	C	ACAN	c.1187G>C	NM_013227.3	NP_037359.3:p.(Ser396Thr)	NC_000015.9:g.89388871G>C	(Likely) benign	1 lab	bbdbe46b9f
10:88705185 MMRN2 C>G	10	88705185	88705185	C	G	MMRN2	c.342G>C	NM_024756.2	NP_079032.2:p.(Leu114=)	NC_000010.10:g.88705185C>G	(Likely) benign	1 lab	bbde446077
6:70978580 COL9A1 G>A	6	70978580	70978580	G	A	COL9A1	c.1231-17C>T	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70978580G>A	(Likely) benign	1 lab	bbdf0711db
X:153629244 RPL10 C>G	X	153629244	153629244	C	G	RPL10	c.531C>G	NM_001256577.2	NP_001243506.2:p.(Tyr177Ter)	NC_000023.10:g.153629244C>G	VUS	1 lab	bbe0b92455
X:67430122 OPHN1 T>G	X	67430122	67430122	T	G	OPHN1	c.705A>C	NM_002547.2	NP_002538.1:p.(Thr235=)	NC_000023.10:g.67430122T>G	(Likely) benign	1 lab	bbe3dac98f
19:4544219 SEMA6B G>A	19	4544219	4544219	G	A	SEMA6B	c.2061C>T	NM_032108.4	NP_115484.2:p.(Asn687=)	NC_000019.9:g.4544219G>A	(Likely) benign	1 lab	bbe4929f84
7:92735065 SAMD9 C>T	7	92735065	92735065	C	T	SAMD9	c.346G>A	NM_017654.3	NP_060124.2:p.(Gly116Ser)	NC_000007.13:g.92735065C>T	(Likely) benign	1 lab	bbe5e353ed
17:8141440 CTC1 C>G	17	8141440	8141440	C	G	CTC1	c.556G>C	NM_025099.6	NP_079375.3:p.(Val186Leu)	NC_000017.10:g.8141440C>G	VUS	1 lab	bbe5e76a05
5:78280996 ARSB G>A	5	78280996	78280996	G	A	ARSB	c.76C>T	NM_000046.4	NP_000037.2:p.(Leu26=)	NC_000005.9:g.78280996G>A	(Likely) benign	1 lab	bbe6859e5f
1:120612034 NOTCH2 T>G	1	120612034	120612034	T	G	NOTCH2	c.-14A>C	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120612034T>G	(Likely) benign	1 lab	bbe6882868
11:64666285 ATG2A C>T	11	64666285	64666285	C	T	ATG2A	c.4494G>A	NM_015104.3	NP_055919.2:p.(Ala1498=)	NC_000011.9:g.64666285C>T	(Likely) benign	1 lab	bbe85ecfec
8:110424563 PKHD1L1 C>A	8	110424563	110424563	C	A	PKHD1L1	c.2155C>A	NM_177531.6	NP_803875.2:p.(Pro719Thr)	NC_000008.10:g.110424563C>A	VUS	1 lab	bbe8d5c0e2
16:3634797 SLX4 G>A	16	3634797	3634797	G	A	SLX4	c.4712C>T	NM_032444.2	NP_115820.2:p.(Thr1571Met)	NC_000016.9:g.3634797G>A	VUS	1 lab	bbebefdaca
6:83900610 PGM3 C>T	6	83900610	83900610	C	T	PGM3	c.206G>A	NM_001199917.2	NP_001186846.1:p.(Arg69His)	NC_000006.11:g.83900610C>T	VUS	1 lab	bbec66c131
19:39063883 RYR1 A>G	19	39063883	39063883	A	G	RYR1	c.14065A>G	NM_000540.2	NP_000531.2:p.(Ile4689Val)	NC_000019.9:g.39063883A>G	(Likely) benign	1 lab	bbed3a8fd9
1:35365766 DLGAP3 T>G	1	35365766	35365766	T	G	DLGAP3	c.1216A>C	NM_001080418.3	NP_001073887.1:p.(Ser406Arg)	NC_000001.10:g.35365766T>G	VUS	1 lab	bbed6352b6
7:117176568 CFTR A>AGATT	7	117176568	117176596	A	AGATT	CFTR	c.744-9_744-6dup	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117176593_117176596dup	(Likely) benign	1 lab	bbef7decce
13:78477424 EDNRB AC>A	13	78477424	78477425	AC	A	EDNRB	c.667del	NM_001122659.3	NP_001116131.1:p.(Val223PhefsTer2)	NC_000013.10:g.78477425del	(Likely) pathogenic	1 lab	bbf387dc8f
4:3142345 HTT G>A	4	3142345	3142345	G	A	HTT	c.2913G>A	NM_002111.8	NP_002102.4:p.(Thr971=)	NC_000004.11:g.3142345G>A	(Likely) benign	1 lab	bbf44825c4
9:130497498 TOR2A G>A	9	130497498	130497498	G	A	TOR2A	c.52C>T	NM_130459.3	NP_569726.2:p.(Leu18Phe)	NC_000009.11:g.130497498G>A	(Likely) benign	1 lab	bbf6b2c6dc
20:34095920 CEP250 A>G	20	34095920	34095920	A	G	CEP250	c.6807A>G	NM_007186.5	NP_009117.2:p.(Arg2269=)	NC_000020.10:g.34095920A>G	(Likely) benign	1 lab	bbf9ac918d
17:2541583 PAFAH1B1 A>G	17	2541583	2541583	A	G	PAFAH1B1	c.1A>G	NM_000430.3	NP_000421.1:p.(Met1?)	NC_000017.10:g.2541583A>G	(Likely) pathogenic	1 lab	bbf9ed3e31
X:48386716 EBP C>T	X	48386716	48386716	C	T	EBP	c.564C>T	NM_006579.2	NP_006570.1:p.(Tyr188=)	NC_000023.10:g.48386716C>T	(Likely) benign	1 lab	bbfb3c19eb
X:9656110 TBL1X C>T	X	9656110	9656110	C	T	TBL1X	c.411C>T	NM_005647.3	NP_005638.1:p.(Ala137=)	NC_000023.10:g.9656110C>T	(Likely) benign	1 lab	bbfea90b44
19:36593649 WDR62 C>T	19	36593649	36593649	C	T	WDR62	c.3231C>T	NM_001083961.1	NP_001077430.1:p.(Pro1077=)	NC_000019.9:g.36593649C>T	(Likely) benign	1 lab	bbff8e6fa4
13:32912169 BRCA2 A>T	13	32912169	32912169	A	T	BRCA2	c.3677A>T	NM_000059.3	NP_000050.2:p.(Lys1226Ile)	NC_000013.10:g.32912169A>T	VUS	1 lab	bbffba1d57
1:155207266 GBA1 C>T	1	155207266	155207266	C	T	GBA1	c.865G>A	NM_001005741.2	NP_001005741.1:p.(Gly289Ser)	NC_000001.10:g.155207266C>T	VUS	1 lab	bc015126a3
X:48846286 GRIPAP1 C>T	X	48846286	48846286	C	T	GRIPAP1	c.731G>A	NM_020137.4	NP_064522.3:p.(Arg244His)	NC_000023.10:g.48846286C>T	VUS	1 lab	bc01e83dd0
4:109862535 COL25A1 C>T	4	109862535	109862535	C	T	COL25A1	c.551G>A	NM_198721.3	NP_942014.1:p.(Arg184His)	NC_000004.11:g.109862535C>T	VUS	1 lab	bc037fe176
X:135047268 MMGT1 G>A	X	135047268	135047268	G	A	MMGT1	c.311C>T	NM_173470.2	NP_775741.1:p.(Ser104Leu)	NC_000023.10:g.135047268G>A	(Likely) benign	1 lab	bc050e9e9d
8:11970656 ZNF705D G>A	8	11970656	11970656	G	A	ZNF705D	c.892G>A	NM_001039615.3	NP_001034704.2:p.(Asp298Asn)	NC_000008.10:g.11970656G>A	(Likely) benign	1 lab	bc073323f8
16:2122880 TSC2 C>T	16	2122880	2122880	C	T	TSC2	c.2251C>T	NM_000548.3	NP_000539.2:p.(Arg751Ter)	NC_000016.9:g.2122880C>T	(Likely) pathogenic	1 lab	bc075b2062
6:53156771 ELOVL5 T>TA	6	53156771	53156779	T	TA	ELOVL5	c.59-11dup	NM_001301856.1	NP_001288785.1:p.?	NC_000006.11:g.53156779dup	(Likely) benign	1 lab	bc07d6985b
22:50656972 TUBGCP6 C>T	22	50656972	50656972	C	T	TUBGCP6	c.4899G>A	NM_020461.3	NP_065194.2:p.(Gln1633=)	NC_000022.10:g.50656972C>T	(Likely) benign	1 lab	bc0837448d
7:35284626 TBX20 G>A	7	35284626	35284626	G	A	TBX20	c.589C>T	NM_001077653.2	NP_001071121.1:p.(Leu197Phe)	NC_000007.13:g.35284626G>A	VUS	1 lab	bc09d037e5
1:114445423 AP4B1 T>C	1	114445423	114445423	T	C	AP4B1	c.175A>G	NM_006594.4	NP_006585.2:p.(Thr59Ala)	NC_000001.10:g.114445423T>C	VUS	1 lab	bc0a25d9d0
17:29497017 NF1 T>C	17	29497017	29497017	T	C	NF1	c.586+2T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29497017T>C	(Likely) pathogenic	1 lab	bc0ac73903
11:13732249 FAR1 T>C	11	13732249	13732249	T	C	FAR1	c.555T>C	NM_032228.5	NP_115604.1:p.(Asp185=)	NC_000011.9:g.13732249T>C	(Likely) benign	1 lab	bc0afbf6e5
11:118918682 HYOU1 G>C	11	118918682	118918682	G	C	HYOU1	c.2487C>G	NM_006389.5	NP_006380.1:p.(Leu829=)	NC_000011.9:g.118918682G>C	(Likely) benign	1 lab	bc0b6bd026
9:42410182 ANKRD20A2P C>T	9	42410182	42410182	C	T	ANKRD20A2P	c.2171C>T	NM_001012421.1	NP_001012421.1:p.(Thr724Ile)	NC_000009.11:g.42410182C>T	(Likely) benign	1 lab	bc0b7375e7
16:67645872 CTCF AGT>A	16	67645872	67645877	AGT	A	CTCF	c.804_805del	NM_006565.4	NP_006556.1:p.(Cys268Ter)	NC_000016.9:g.67645876_67645877del	(Likely) pathogenic	1 lab	bc0b94616e
19:3981456 EEF2 T>C	19	3981456	3981456	T	C	EEF2	c.898-6A>G	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3981456T>C	(Likely) benign	1 lab	bc0c54a7af
X:13779248 OFD1 A>G	X	13779248	13779248	A	G	OFD1	c.1885A>G	NM_001330210.1	NP_001317139.1:p.(Arg629Gly)	NC_000023.10:g.13779248A>G	(Likely) benign	1 lab	bc0e5733e0
2:179427052 TTN A>G	2	179427052	179427052	A	G	TTN	c.83807T>C	NM_001267550.1	NP_001254479.1:p.(Val27936Ala)	NC_000002.11:g.179427052A>G	VUS	1 lab	bc11d8a940
19:6686258 C3 G>A	19	6686258	6686258	G	A	C3	c.3687C>T	NM_000064.2	NP_000055.2:p.(Asn1229=)	NC_000019.9:g.6686258G>A	(Likely) benign	1 lab	bc11f02595
1:160293229 COPA C>T	1	160293229	160293229	C	T	COPA	c.698G>A	NM_001098398.2	NP_001091868.1:p.(Arg233His)	NC_000001.10:g.160293229C>T	(Likely) pathogenic	1 lab	bc12002553
X:24330530 SUPT20HL2 G>A	X	24330530	24330530	G	A	SUPT20HL2	c.981C>T	NM_001136233.2	NP_001129705.2:p.(Ala327=)	NC_000023.10:g.24330530G>A	(Likely) benign	1 lab	bc137b5514
1:220344269 RAB3GAP2 C>T	1	220344269	220344269	C	T	RAB3GAP2	c.2771G>A	NM_012414.3	NP_036546.2:p.(Arg924Lys)	NC_000001.10:g.220344269C>T	(Likely) benign	1 lab	bc166c6520
X:49062227 CACNA1F G>A	X	49062227	49062227	G	A	CACNA1F	c.5552C>T	NM_005183.3	NP_005174.2:p.(Pro1851Leu)	NC_000023.10:g.49062227G>A	VUS	1 lab	bc172bb6b4
6:7230620 RREB1 A>G	6	7230620	7230620	A	G	RREB1	c.2288A>G	NM_001003699.4	NP_001003699.1:p.(Lys763Arg)	NC_000006.11:g.7230620A>G	VUS	1 lab	bc1821d899
14:23901062 MYH7 C>T	14	23901062	23901062	C	T	MYH7	c.547G>A	NM_000257.2	NP_000248.2:p.(Gly183Arg)	NC_000014.8:g.23901062C>T	(Likely) pathogenic	1 lab	bc18e32e55
11:6643109 DCHS1 G>A	11	6643109	6643109	G	A	DCHS1				NC_000011.9:g.6643109G>A	(Likely) benign	1 lab	bc1e08a098
14:105416763 AHNAK2 C>G	14	105416763	105416763	C	G	AHNAK2	c.5025G>C	NM_138420.3	NP_612429.2:p.(Lys1675Asn)	NC_000014.8:g.105416763C>G	(Likely) benign	1 lab	bc1ec7091f
9:130423436 STXBP1 CA>C	9	130423436	130423440	CA	C	STXBP1	c.385del	NM_001032221.6	NP_001027392.1:p.(Thr129LeufsTer2)	NC_000009.11:g.130423440del	(Likely) pathogenic	1 lab	bc202abf46
3:48506389 ATRIP A>T	3	48506389	48506389	A	T	ATRIP	c.2215A>T	NM_130384.3	NP_569055.1:p.(Met739Leu)	NC_000003.11:g.48506389A>T	(Likely) benign	1 lab	bc21b0bc74
16:341287 AXIN1 C>A	16	341287	341287	C	A	AXIN1	c.2197G>T	NM_003502.3	NP_003493.1:p.(Glu733Ter)	NC_000016.9:g.341287C>A	VUS	1 lab	bc249aa6b4
19:48660389 LIG1 G>A	19	48660389	48660389	G	A	LIG1	c.252C>T	NM_001320970.1	NP_001307899.1:p.(Ala84=)	NC_000019.9:g.48660389G>A	(Likely) benign	1 lab	bc25b6c60d
3:46743007 TMIE C>T	3	46743007	46743007	C	T	TMIE	c.30C>T	NM_147196.2	NP_671729.2:p.(Leu10=)	NC_000003.11:g.46743007C>T	(Likely) benign	1 lab	bc26618c8b
8:145620144 CPSF1 C>T	8	145620144	145620144	C	T	CPSF1	c.3367G>A	NM_013291.3	NP_037423.2:p.(Ala1123Thr)	NC_000008.10:g.145620144C>T	VUS	1 lab	bc27041241
12:49427979 KMT2D C>T	12	49427979	49427979	C	T	KMT2D	c.10611G>A	NM_003482.3	NP_003473.3:p.(Lys3537=)	NC_000012.11:g.49427979C>T	(Likely) benign	1 lab	bc2716b671
16:2108784 TSC2 C>T	16	2108784	2108784	C	T	TSC2	c.885C>T	NM_000548.3	NP_000539.2:p.(Ala295=)	NC_000016.9:g.2108784C>T	(Likely) benign	1 lab	bc2780fb57
5:118860973 HSD17B4 T>A	5	118860973	118860973	T	A	HSD17B4	c.1641T>A	NM_001199291.2	NP_001186220.1:p.(Ser547Arg)	NC_000005.9:g.118860973T>A	VUS	1 lab	bc279b3507
2:152409242 NEB C>T	2	152409242	152409242	C	T	NEB	c.19780G>A	NM_001271208.1	NP_001258137.1:p.(Val6594Ile)	NC_000002.11:g.152409242C>T	VUS	1 lab	bc27af5907
19:10477209 TYK2 C>T	19	10477209	10477209	C	T	TYK2	c.513G>A	NM_003331.4	NP_003322.3:p.(Ser171=)	NC_000019.9:g.10477209C>T	(Likely) benign	1 lab	bc28faabb9
1:36564145 COL8A2 A>G	1	36564145	36564145	A	G	COL8A2	c.1137T>C	NM_005202.3	NP_005193.1:p.(Gly379=)	NC_000001.10:g.36564145A>G	(Likely) benign	1 lab	bc2a1b5b04
5:145252526 GRXCR2 C>T	5	145252526	145252526	C	T	GRXCR2	c.6G>A	NM_001080516.1	NP_001073985.1:p.(Glu2=)	NC_000005.9:g.145252526C>T	(Likely) benign	1 lab	bc2c28fac3
2:179416586 TTN A>G	2	179416586	179416586	A	G	TTN	c.91041T>C	NM_001267550.1	NP_001254479.1:p.(Ala30347=)	NC_000002.11:g.179416586A>G	(Likely) benign	1 lab	bc2d87bd53
16:57790757 KATNB1 C>T	16	57790757	57790757	C	T	KATNB1	c.1867C>T	NM_005886.2	NP_005877.2:p.(Leu623Phe)	NC_000016.9:g.57790757C>T	VUS	1 lab	bc2df07edb
11:62288876 AHNAK A>C	11	62288876	62288876	A	C	AHNAK	c.13013T>G	NM_001620.2	NP_001611.1:p.(Val4338Gly)	NC_000011.9:g.62288876A>C	VUS	1 lab	bc2df5aef3
X:48768805 SLC35A2 T>C	X	48768805	48768805	T	C	SLC35A2	c.109A>G	NM_001282650.1	NP_001269579.1:p.(Ser37Gly)	NC_000023.10:g.48768805T>C	VUS	1 lab	bc2e6146ae
17:78085817 GAA T>A	17	78085817	78085817	T	A	GAA	c.1672T>A	NM_000152.3	NP_000143.2:p.(Cys558Ser)	NC_000017.10:g.78085817T>A	(Likely) pathogenic	1 lab	bc2f598f68
3:49700618 BSN G>A	3	49700618	49700618	G	A	BSN	c.11027G>A	NM_003458.3	NP_003449.2:p.(Arg3676His)	NC_000003.11:g.49700618G>A	VUS	1 lab	bc30777eba
14:88411980 GALC C>T	14	88411980	88411980	C	T	GALC	c.1587G>A	NM_000153.3	NP_000144.2:p.(Thr529=)	NC_000014.8:g.88411980C>T	(Likely) benign	1 lab	bc30a01339
3:127339722 MCM2 A>G	3	127339722	127339722	A	G	MCM2	c.2447A>G	NM_004526.3	NP_004517.2:p.(Lys816Arg)	NC_000003.11:g.127339722A>G	VUS	1 lab	bc33d4ed46
6:31996608 C4B G>A	6	31996608	31996608	G	A	C4B	c.3369G>A	NM_001002029.3	NP_001002029.3:p.(Val1123=)	NC_000006.11:g.31996608G>A	(Likely) benign	1 lab	bc3438cfc9
7:43830878 BLVRA G>T	7	43830878	43830878	G	T	BLVRA	c.165G>T	NM_001253823.1	NP_001240752.1:p.(Gln55His)	NC_000007.13:g.43830878G>T	(Likely) benign	1 lab	bc349252fd
1:7723921 CAMTA1 T>C	1	7723921	7723921	T	C	CAMTA1	c.1314T>C	NM_015215.3	NP_056030.1:p.(Asp438=)	NC_000001.10:g.7723921T>C	(Likely) benign	1 lab	bc3506641d
20:62657400 PRPF6 C>T	20	62657400	62657400	C	T	PRPF6	c.2017C>T	NM_012469.3	NP_036601.2:p.(Pro673Ser)	NC_000020.10:g.62657400C>T	VUS	1 lab	bc360ca8a1
3:129180072 IFT122 C>T	3	129180072	129180072	C	T	IFT122	c.427C>T	NM_052985.3	NP_443711.2:p.(His143Tyr)	NC_000003.11:g.129180072C>T	VUS	1 lab	bc361a138e
16:88504003 ZNF469 C>G	16	88504003	88504003	C	G	ZNF469				NC_000016.9:g.88504003C>G	(Likely) benign	1 lab	bc371edfd4
10:88476287 LDB3 G>A	10	88476287	88476287	G	A	LDB3	c.1435G>A	NM_007078.2	NP_009009.1:p.(Gly479Arg)	NC_000010.10:g.88476287G>A	VUS	1 lab	bc395f5ca4
X:16964996 REPS2 A>AGCGGAGGCGGCG	X	16964996	16965001	A	AGCGGAGGCGGCG	REPS2	c.16_17insAGGCGGCGGCGG	NM_004726.2	NP_004717.2:p.(Glu2_Ala5dup)	NC_000023.10:g.16965000_16965001insAGGCGGCGGCGG	VUS	1 lab	bc396dc540
17:29528427 NF1 A>G	17	29528427	29528427	A	G	NF1	c.1186-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528427A>G	(Likely) pathogenic	1 lab	bc3aaa9491
1:216258159 USH2A T>C	1	216258159	216258159	T	C	USH2A	c.5048A>G	NM_206933.2	NP_996816.2:p.(Asn1683Ser)	NC_000001.10:g.216258159T>C	(Likely) benign	1 lab	bc3aabd776
3:52283025 PPM1M C>T	3	52283025	52283025	C	T	PPM1M	c.1032C>T	NM_144641.4	NP_653242.3:p.(Leu344=)	NC_000003.11:g.52283025C>T	(Likely) benign	1 lab	bc3c737e97
5:118811394 HSD17B4 A>G	5	118811394	118811394	A	G	HSD17B4	c.356-7A>G	NM_001199291.2	NP_001186220.1:p.?	NC_000005.9:g.118811394A>G	(Likely) benign	1 lab	bc3c95e80a
3:69928287 MITF G>T	3	69928287	69928287	G	T	MITF	c.107G>T	NM_198159.2	NP_937802.1:p.(Ser36Ile)	NC_000003.11:g.69928287G>T	VUS	1 lab	bc3ee31086
17:18034131 MYO15A A>AGT	17	18034131	18034185	A	AGT	MYO15A	c.4038+60_4038+61dup	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18034184_18034185dup	(Likely) benign	1 lab	bc4093e027
X:152773897 BGN A>C	X	152773897	152773897	A	C	BGN	c.1101A>C	NM_001711.5	NP_001702.1:p.(Lys367Asn)	NC_000023.10:g.152773897A>C	VUS	1 lab	bc40c3e2bb
3:142987786 SLC9A9 C>T	3	142987786	142987786	C	T	SLC9A9	c.1641G>A	NM_173653.3	NP_775924.1:p.(Pro547=)	NC_000003.11:g.142987786C>T	(Likely) benign	1 lab	bc4349a0dc
4:183549997 TENM3 G>A	4	183549997	183549997	G	A	TENM3	c.943G>A	NM_001080477.3	NP_001073946.1:p.(Val315Ile)	NC_000004.11:g.183549997G>A	(Likely) benign	1 lab	bc451267f7
10:97728491 CC2D2B A>C	10	97728491	97728491	A	C	CC2D2B	c.1477A>C	NM_001349008.2	NP_001335937.1:p.(Lys493Gln)	NC_000010.10:g.97728491A>C	VUS	1 lab	bc494fe639
15:101440874 ALDH1A3 C>G	15	101440874	101440874	C	G	ALDH1A3	c.978C>G	NM_000693.3	NP_000684.2:p.(Val326=)	NC_000015.9:g.101440874C>G	(Likely) benign	1 lab	bc495b57b3
14:102916140 TECPR2 A>C	14	102916140	102916140	A	C	TECPR2	c.3250A>C	NM_014844.4	NP_055659.2:p.(Asn1084His)	NC_000014.8:g.102916140A>C	VUS	1 lab	bc4b674a2f
17:40715113 COASY T>C	17	40715113	40715113	T	C	COASY	c.473T>C	NM_025233.6	NP_079509.5:p.(Ile158Thr)	NC_000017.10:g.40715113T>C	(Likely) benign	1 lab	bc4dcbc5ac
2:179467056 TTN G>A	2	179467056	179467056	G	A	TTN	c.55073C>T	NM_001267550.1	NP_001254479.1:p.(Ser18358Phe)	NC_000002.11:g.179467056G>A	VUS	1 lab	bc4e82c77f
11:103018595 DYNC2H1 T>A	11	103018595	103018595	T	A	DYNC2H1	c.2797T>A	NM_001080463.1	NP_001073932.1:p.(Ser933Thr)	NC_000011.9:g.103018595T>A	(Likely) benign	1 lab	bc4e838d6f
10:73377039 CDH23 C>T	10	73377039	73377039	C	T	CDH23	c.1023C>T	NM_022124.5	NP_071407.4:p.(Ile341=)	NC_000010.10:g.73377039C>T	(Likely) benign	1 lab	bc50784b86
X:114245280 IL13RA2 A>G	X	114245280	114245280	A	G	IL13RA2	c.633T>C	NM_000640.2	NP_000631.1:p.(Tyr211=)	NC_000023.10:g.114245280A>G	(Likely) benign	1 lab	bc519cadd5
4:651199 PDE6B C>G	4	651199	651199	C	G	PDE6B	c.1317C>G	NM_000283.3	NP_000274.2:p.(Asn439Lys)	NC_000004.11:g.651199C>G	VUS	1 lab	bc5464862b
12:49443552 KMT2D G>A	12	49443552	49443552	G	A	KMT2D	c.3819C>T	NM_003482.3	NP_003473.3:p.(Cys1273=)	NC_000012.11:g.49443552G>A	(Likely) benign	1 lab	bc5635f748
1:19565288 EMC1 C>A	1	19565288	19565288	C	A	EMC1	c.1089+1G>T	NM_015047.2	NP_055862.1:p.?	NC_000001.10:g.19565288C>A	(Likely) pathogenic	1 lab	bc5891243e
16:53690423 RPGRIP1L G>T	16	53690423	53690423	G	T	RPGRIP1L	c.1660C>A	NM_015272.4	NP_056087.2:p.(Leu554Ile)	NC_000016.9:g.53690423G>T	VUS	1 lab	bc5a423d99
17:7490221 MPDU1 C>T	17	7490221	7490221	C	T	MPDU1	c.393C>T	NM_004870.3	NP_004861.2:p.(Val131=)	NC_000017.10:g.7490221C>T	(Likely) benign	1 lab	bc5d996e95
10:73492002 CDH23 A>C	10	73492002	73492002	A	C	CDH23	c.3974A>C	NM_022124.5	NP_071407.4:p.(Asn1325Thr)	NC_000010.10:g.73492002A>C	VUS	1 lab	bc5f532247
9:137716574 COL5A1 A>C	9	137716574	137716574	A	C	COL5A1	c.4827A>C	NM_000093.4	NP_000084.3:p.(Glu1609Asp)	NC_000009.11:g.137716574A>C	VUS	1 lab	bc5f876d65
10:101715453 DNMBP G>A	10	101715453	101715453	G	A	DNMBP	c.1778C>T	NM_015221.4	NP_056036.1:p.(Ser593Leu)	NC_000010.10:g.101715453G>A	VUS	1 lab	bc60724bee
15:89864366 POLG G>A	15	89864366	89864366	G	A	POLG	c.2724C>T	NM_002693.2	NP_002684.1:p.(Ala908=)	NC_000015.9:g.89864366G>A	(Likely) benign	1 lab	bc620211f3
X:151935901 MAGEA3 T>C	X	151935901	151935901	T	C	MAGEA3	c.266A>G	NM_005362.3	NP_005353.1:p.(Asn89Ser)	NC_000023.10:g.151935901T>C	(Likely) benign	1 lab	bc635fc5a9
X:136113817 GPR101 G>C	X	136113817	136113817	G	C	GPR101	c.17C>G	NM_054021.1	NP_473362.1:p.(Thr6Ser)	NC_000023.10:g.136113817G>C	(Likely) benign	1 lab	bc6405f22c
9:35706052 TLN1 G>A	9	35706052	35706052	G	A	TLN1	c.5418C>T	NM_006289.4	NP_006280.3:p.(Ala1806=)	NC_000009.11:g.35706052G>A	(Likely) benign	1 lab	bc6490dd1e
X:118725046 NKRF A>G	X	118725046	118725046	A	G	NKRF	c.342T>C	NM_001173488.1	NP_001166959.1:p.(Tyr114=)	NC_000023.10:g.118725046A>G	(Likely) benign	1 lab	bc64acde58
16:2104438 TSC2 C>G	16	2104438	2104438	C	G	TSC2	c.478C>G	NM_000548.3	NP_000539.2:p.(Leu160Val)	NC_000016.9:g.2104438C>G	(Likely) pathogenic	1 lab	bc657e7021
11:5246699 HBB A>T	11	5246699	5246699	A	T	HBB	c.*129T>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5246699A>T	VUS	1 lab	088cd73e31
11:1264709 MUC5B G>A	11	1264709	1264709	G	A	MUC5B	c.6599G>A	NM_002458.2	NP_002449.2:p.(Arg2200Gln)	NC_000011.9:g.1264709G>A	(Likely) benign	1 lab	bc6a704a52
18:44121756 LOXHD1 G>T	18	44121756	44121756	G	T	LOXHD1	c.3896C>A	NM_144612.6	NP_653213.6:p.(Thr1299Lys)	NC_000018.9:g.44121756G>T	VUS	1 lab	bc6ac02700
2:32832647 BIRC6 A>C	2	32832647	32832647	A	C	BIRC6	c.14196A>C	NM_016252.3	NP_057336.3:p.(Arg4732=)	NC_000002.11:g.32832647A>C	(Likely) benign	1 lab	bc6dc9842c
3:38518894 ACVR2B C>A	3	38518894	38518894	C	A	ACVR2B	c.169C>A	NM_001106.3	NP_001097.2:p.(Leu57Met)	NC_000003.11:g.38518894C>A	(Likely) benign	1 lab	bc70046c73
10:56106126 PCDH15 G>A	10	56106126	56106126	G	A	PCDH15				NC_000010.10:g.56106126G>A	VUS	1 lab	bc73ec0b7b
6:117996901 NUS1 C>T	6	117996901	117996901	C	T	NUS1	c.68C>T	NM_138459.4	NP_612468.1:p.(Thr23Ile)	NC_000006.11:g.117996901C>T	(Likely) benign	1 lab	bc762ab98a
X:118230486 KIAA1210 G>A	X	118230486	118230486	G	A	KIAA1210	c.1237C>T	NM_020721.1	NP_065772.1:p.(Arg413Cys)	NC_000023.10:g.118230486G>A	VUS	1 lab	bc7849c33a
1:47767376 STIL G>C	1	47767376	47767376	G	C	STIL	c.310C>G	NM_001282936.1	NP_001269865.1:p.(Arg104Gly)	NC_000001.10:g.47767376G>C	VUS	1 lab	bc78950447
6:144852326 UTRN G>A	6	144852326	144852326	G	A	UTRN	c.6045G>A	NM_007124.2	NP_009055.2:p.(Arg2015=)	NC_000006.11:g.144852326G>A	(Likely) benign	1 lab	bc78c7689e
6:28056534 ZNF165 G>A	6	28056534	28056534	G	A	ZNF165	c.744G>A	NM_003447.4	NP_003438.1:p.(Ser248=)	NC_000006.11:g.28056534G>A	(Likely) benign	1 lab	bc79091e27
11:108188178 ATM C>T	11	108188178	108188178	C	T	ATM	c.6277C>T	NM_001351834.1	NP_001338763.1:p.(Pro2093Ser)	NC_000011.9:g.108188178C>T	VUS	1 lab	bc7909d20b
16:2130180 TSC2 C>T	16	2130180	2130180	C	T	TSC2	c.3412C>T	NM_000548.3	NP_000539.2:p.(Arg1138Ter)	NC_000016.9:g.2130180C>T	(Likely) pathogenic	1 lab	bc7a9a7350
16:53679893 RPGRIP1L G>A	16	53679893	53679893	G	A	RPGRIP1L	c.2327C>T	NM_015272.4	NP_056087.2:p.(Thr776Ile)	NC_000016.9:g.53679893G>A	(Likely) benign	1 lab	bc7b26497f
2:215862437 ABCA12 T>C	2	215862437	215862437	T	C	ABCA12	c.3276A>G	NM_173076.2	NP_775099.2:p.(Lys1092=)	NC_000002.11:g.215862437T>C	(Likely) benign	1 lab	bc7c0c0d76
15:22940743 CYFIP1 C>G	15	22940743	22940743	C	G	CYFIP1	c.1008C>G	NM_001287810.3	NP_001274739.1:p.(Ser336=)	NC_000015.9:g.22940743C>G	(Likely) benign	1 lab	bc7cdde987
10:56106247 PCDH15 G>A	10	56106247	56106247	G	A	PCDH15				NC_000010.10:g.56106247G>A	(Likely) benign	1 lab	bc7e76e793
1:155206168 GBA1 C>T	1	155206168	155206168	C	T	GBA1	c.1092G>A	NM_001005741.2	NP_001005741.1:p.(Gly364=)	NC_000001.10:g.155206168C>T	(Likely) benign	1 lab	bc7e96e59b
X:50053432 CCNB3 T>C	X	50053432	50053432	T	C	CCNB3	c.2263T>C	NM_033031.2	NP_149020.2:p.(Ser755Pro)	NC_000023.10:g.50053432T>C	VUS	1 lab	bc7eb0b71d
X:14038643 GEMIN8 G>A	X	14038643	14038643	G	A	GEMIN8	c.26C>T	NM_017856.2	NP_060326.1:p.(Ser9Leu)	NC_000023.10:g.14038643G>A	(Likely) benign	1 lab	bc80e1d9e2
6:33756549 LEMD2 T>G	6	33756549	33756549	T	G	LEMD2	c.345A>C	NM_181336.3	NP_851853.1:p.(Val115=)	NC_000006.11:g.33756549T>G	(Likely) benign	1 lab	bc8202119b
5:176943296 DDX41 C>T	5	176943296	176943296	C	T	DDX41	c.291G>A	NM_016222.3	NP_057306.2:p.(Lys97=)	NC_000005.9:g.176943296C>T	(Likely) benign	1 lab	bc84f7bca2
3:10183722 VHL G>C	3	10183722	10183722	G	C	VHL	c.191G>C	NM_000551.3	NP_000542.1:p.(Arg64Pro)	NC_000003.11:g.10183722G>C	(Likely) pathogenic	1 lab	bc877978c3
5:37121841 CPLANE1 G>A	5	37121841	37121841	G	A	CPLANE1	c.8901C>T	NM_023073.3	NP_075561.3:p.(Tyr2967=)	NC_000005.9:g.37121841G>A	(Likely) benign	1 lab	bc882a4718
5:156890161 NIPAL4 C>T	5	156890161	156890161	C	T	NIPAL4	c.283C>T	NM_001099287.1	NP_001092757.1:p.(Leu95Phe)	NC_000005.9:g.156890161C>T	(Likely) benign	1 lab	bc883635f5
20:31386367 DNMT3B G>A	20	31386367	31386367	G	A	DNMT3B	c.1592G>A	NM_006892.3	NP_008823.1:p.(Arg531His)	NC_000020.10:g.31386367G>A	VUS	1 lab	bc8d1fa534
1:45446797 EIF2B3 C>T	1	45446797	45446797	C	T	EIF2B3	c.44G>A	NM_020365.4	NP_065098.1:p.(Arg15Gln)	NC_000001.10:g.45446797C>T	VUS	1 lab	bc900e8e79
3:136240268 STAG1 C>G	3	136240268	136240268	C	G	STAG1	c.472-9G>C	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136240268C>G	(Likely) benign	1 lab	bc90c82874
10:73544740 CDH23 T>A	10	73544740	73544740	T	A	CDH23	c.5595T>A	NM_022124.5	NP_071407.4:p.(Pro1865=)	NC_000010.10:g.73544740T>A	(Likely) benign	1 lab	bc9211701b
1:153660563 NPR1 C>G	1	153660563	153660563	C	G	NPR1	c.2283C>G	NM_000906.4	NP_000897.3:p.(Pro761=)	NC_000001.10:g.153660563C>G	(Likely) benign	1 lab	bc93309c48
20:45358223 SLC2A10 C>T	20	45358223	45358223	C	T	SLC2A10	c.1547+96C>T	NM_030777.3	NP_110404.1:p.?	NC_000020.10:g.45358223C>T	(Likely) benign	1 lab	bc93b36203
4:103531736 NFKB1 A>G	4	103531736	103531736	A	G	NFKB1	c.2232A>G	NM_003998.4	NP_003989.2:p.(Ala744=)	NC_000004.11:g.103531736A>G	(Likely) benign	1 lab	bc94dae5d0
14:24626844 RNF31 G>T	14	24626844	24626844	G	T	RNF31	c.2724G>T	NM_017999.5	NP_060469.4:p.(Lys908Asn)	NC_000014.8:g.24626844G>T	VUS	1 lab	bc95b6039d
X:3241681 MXRA5 C>T	X	3241681	3241681	C	T	MXRA5	c.2045G>A	NM_015419.3	NP_056234.2:p.(Arg682His)	NC_000023.10:g.3241681C>T	(Likely) benign	1 lab	bc95d50f9d
8:53074015 ST18 G>A	8	53074015	53074015	G	A	ST18	c.1514C>T	NM_001352828.1	NP_001339757.1:p.(Ala505Val)	NC_000008.10:g.53074015G>A	VUS	1 lab	bc95f1399f
6:118879789 CEP85L TACACACACAC>T	6	118879789	118879824	TACACACACAC	T	CEP85L	c.1020+6893_1020+6902del	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118879815_118879824del	(Likely) benign	1 lab	bc9778a428
10:12139723 DHTKD1 A>T	10	12139723	12139723	A	T	DHTKD1	c.1399A>T	NM_018706.6	NP_061176.3:p.(Ile467Phe)	NC_000010.10:g.12139723A>T	VUS	1 lab	bc97fe02d7
9:117165548 WHRN G>A	9	117165548	117165548	G	A	WHRN	c.2490C>T	NM_015404.3	NP_056219.3:p.(Ile830=)	NC_000009.11:g.117165548G>A	(Likely) benign	1 lab	bc9b33bef3
4:119259441 PRSS12 AT>A	4	119259441	119259446	AT	A	PRSS12	c.530del	NM_003619.4	NP_003610.2:p.(Asn177MetfsTer42)	NC_000004.11:g.119259446del	(Likely) pathogenic	1 lab	bc9cd079ab
14:90755294 NRDE2 T>A	14	90755294	90755294	T	A	NRDE2	c.2425A>T	NM_017970.4	NP_060440.2:p.(Met809Leu)	NC_000014.8:g.90755294T>A	(Likely) benign	1 lab	bc9d0dd91d
15:86129043 AKAP13 A>G	15	86129043	86129043	A	G	AKAP13	c.4150A>G	NM_006738.5	NP_006729.4:p.(Met1384Val)	NC_000015.9:g.86129043A>G	(Likely) benign	1 lab	bca17bf674
5:140953602 DIAPH1 A>G	5	140953602	140953602	A	G	DIAPH1	c.1815T>C	NM_001314007.1	NP_001300936.1:p.(Ser605=)	NC_000005.9:g.140953602A>G	(Likely) benign	1 lab	bca1c3c75f
4:69434186 UGT2B17 A>T	4	69434186	69434186	A	T	UGT2B17	c.17T>A	NM_001077.3	NP_001068.1:p.(Met6Lys)	NC_000004.11:g.69434186A>T	(Likely) benign	1 lab	bca2ae8b81
X:152830399 ATP2B3 C>T	X	152830399	152830399	C	T	ATP2B3	c.3180C>T	NM_021949.3	NP_068768.2:p.(Thr1060=)	NC_000023.10:g.152830399C>T	(Likely) benign	1 lab	bca39aa1af
1:115275266 CSDE1 G>GA	1	115275266	115275268	G	GA	CSDE1	c.1146dup	NM_001242891.1	NP_001229820.1:p.(Leu383SerfsTer9)	NC_000001.10:g.115275268dup	VUS	1 lab	bca3f277e6
9:139310799 PMPCA C>T	9	139310799	139310799	C	T	PMPCA	c.589C>T	NM_015160.2	NP_055975.1:p.(Leu197=)	NC_000009.11:g.139310799C>T	(Likely) benign	1 lab	bca43e114b
14:73727979 PAPLN G>A	14	73727979	73727979	G	A	PAPLN	c.2141G>A	NM_173462.3	NP_775733.3:p.(Gly714Asp)	NC_000014.8:g.73727979G>A	VUS	1 lab	bca4559f48
X:47060387 UBA1 G>A	X	47060387	47060387	G	A	UBA1	c.575G>A	NM_003334.4	NP_003325.2:p.(Arg192Gln)	NC_000023.10:g.47060387G>A	VUS	1 lab	bca720a9fb
8:95863920 INTS8 C>T	8	95863920	95863920	C	T	INTS8	c.1641+6C>T	NM_017864.3	NP_060334.2:p.?	NC_000008.10:g.95863920C>T	(Likely) benign	1 lab	bca824f7ae
7:117231852 CFTR T>C	7	117231852	117231852	T	C	CFTR	c.1767-136T>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117231852T>C	(Likely) benign	1 lab	bcaa3a0e82
20:60886108 LAMA5 G>C	20	60886108	60886108	G	C	LAMA5	c.10131C>G	NM_005560.4	NP_005551.3:p.(Gly3377=)	NC_000020.10:g.60886108G>C	(Likely) benign	1 lab	bcac3734dc
6:161152838 PLG G>A	6	161152838	161152838	G	A	PLG	c.1500G>A	NM_000301.3	NP_000292.1:p.(Thr500=)	NC_000006.11:g.161152838G>A	(Likely) benign	1 lab	bcadc48231
3:121980733 CASR T>C	3	121980733	121980733	T	C	CASR	c.851T>C	NM_001178065.1	NP_001171536.1:p.(Val284Ala)	NC_000003.11:g.121980733T>C	VUS	1 lab	bcaf8382cf
7:21938942 DNAH11 C>T	7	21938942	21938942	C	T	DNAH11				NC_000007.13:g.21938942C>T	(Likely) benign	1 lab	bcb071f823
7:103033497 SLC26A5 T>C	7	103033497	103033497	T	C	SLC26A5	c.988A>G	NM_198999.2	NP_945350.1:p.(Asn330Asp)	NC_000007.13:g.103033497T>C	(Likely) benign	1 lab	bcb0fd1723
11:120984321 TECTA C>G	11	120984321	120984321	C	G	TECTA	c.684C>G	NM_005422.2	NP_005413.2:p.(Pro228=)	NC_000011.9:g.120984321C>G	(Likely) benign	1 lab	bcb45ebb65
16:2136428 TSC2 C>T	16	2136428	2136428	C	T	TSC2	c.4849+48C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136428C>T	(Likely) benign	1 lab	dec71c6147
X:91133885 PCDH11X G>A	X	91133885	91133885	G	A	PCDH11X	c.2646G>A	NM_032968.4	NP_116750.1:p.(Leu882=)	NC_000023.10:g.91133885G>A	(Likely) benign	1 lab	bcb47a80f6
21:44476925 CBS C>T	21	44476925	44476925	C	T	CBS	c.1225G>A	NM_001321072.1	NP_001308001.1:p.(Glu409Lys)	NC_000021.8:g.44476925C>T	VUS	1 lab	bcb4b075be
19:7622115 PNPLA6 C>T	19	7622115	7622115	C	T	PNPLA6	c.3372C>T	NM_001166111.1	NP_001159583.1:p.(Cys1124=)	NC_000019.9:g.7622115C>T	(Likely) benign	1 lab	bcb619f05f
9:133957502 LAMC3 G>A	9	133957502	133957502	G	A	LAMC3	c.3984G>A	NM_006059.3	NP_006050.3:p.(Ala1328=)	NC_000009.11:g.133957502G>A	(Likely) benign	1 lab	bcb7025444
X:37061719 FTHL18P G>A	X	37061719	37061719	G	A	FTHL18P	c.43C>T	NM_001271682.1	NP_001258611.1:p.(Arg15Cys)	NC_000023.10:g.37061719G>A	(Likely) benign	1 lab	bcb703aa9b
11:2906229 CDKN1C G>A	11	2906229	2906229	G	A	CDKN1C	c.491C>T	NM_000076.2	NP_000067.1:p.(Pro164Leu)	NC_000011.9:g.2906229G>A	VUS	1 lab	bcb80346c4
2:58425704 FANCL AAGAATTTACCTGAGG>A	2	58425704	58425734	AAGAATTTACCTGAGG	A	FANCL	c.540+10_540+24del	NM_018062.4	NP_060532.2:p.?	NC_000002.11:g.58425720_58425734del	VUS	1 lab	bcbb952a13
1:211654556 RD3 G>A	1	211654556	211654556	G	A	RD3	c.202C>T	NM_183059.2	NP_898882.1:p.(Arg68Trp)	NC_000001.10:g.211654556G>A	VUS	1 lab	bcbcbd08d1
16:30129758 MAPK3 C>T	16	30129758	30129758	C	T	MAPK3	c.455G>A	NM_002746.2	NP_002737.2:p.(Arg152Gln)	NC_000016.9:g.30129758C>T	VUS	1 lab	bcbd815bae
13:45150181 TSC22D1 C>T	13	45150181	45150181	C	T	TSC22D1	c.30G>A	NM_183422.3	NP_904358.2:p.(Ala10=)	NC_000013.10:g.45150181C>T	(Likely) benign	1 lab	bcbe1a1bdb
17:42929759 EFTUD2 C>G	17	42929759	42929759	C	G	EFTUD2	c.2715+18G>C	NM_004247.3	NP_004238.3:p.?	NC_000017.10:g.42929759C>G	(Likely) benign	1 lab	bcc052b4c4
8:100732723 VPS13B A>T	8	100732723	100732723	A	T	VPS13B	c.6883A>T	NM_017890.4	NP_060360.3:p.(Ser2295Cys)	NC_000008.10:g.100732723A>T	VUS	1 lab	bcc055c0e1
17:1629546 WDR81 C>T	17	1629546	1629546	C	T	WDR81	c.1293C>T	NM_001163809.1	NP_001157281.1:p.(Gly431=)	NC_000017.10:g.1629546C>T	(Likely) benign	1 lab	bcc27a588c
13:111155754 COL4A2 T>C	13	111155754	111155754	T	C	COL4A2	c.4064T>C	NM_001846.3	NP_001837.2:p.(Met1355Thr)	NC_000013.10:g.111155754T>C	VUS	1 lab	bcc2c57161
5:37157912 CPLANE1 A>T	5	37157912	37157912	A	T	CPLANE1	c.7817T>A	NM_023073.3	NP_075561.3:p.(Leu2606Ter)	NC_000005.9:g.37157912A>T	(Likely) pathogenic	1 lab	bcc3590021
X:15540517 BMX T>C	X	15540517	15540517	T	C	BMX	c.559T>C	NM_203281.2	NP_975010.1:p.(Ser187Pro)	NC_000023.10:g.15540517T>C	(Likely) benign	1 lab	bcc499b938
7:142458486 PRSS1 C>T	7	142458486	142458486	C	T	PRSS1	c.121C>T	NM_002769.4	NP_002760.1:p.(Leu41=)	NC_000007.13:g.142458486C>T	(Likely) benign	1 lab	bcc575ad87
17:71434217 SDK2 G>A	17	71434217	71434217	G	A	SDK2	c.802C>T	NM_001144952.2	NP_001138424.1:p.(Arg268Trp)	NC_000017.10:g.71434217G>A	VUS	1 lab	bcc72f15d9
11:71903230 FOLR1 A>G	11	71903230	71903230	A	G	FOLR1	c.13A>G	NM_016724.2	NP_057936.1:p.(Met5Val)	NC_000011.9:g.71903230A>G	VUS	1 lab	bcc89fb353
X:77286903 ATP7A G>T	X	77286903	77286903	G	T	ATP7A	c.3117G>T	NM_000052.6	NP_000043.4:p.(Lys1039Asn)	NC_000023.10:g.77286903G>T	(Likely) benign	1 lab	bcc917cc17
18:43447647 EPG5 C>A	18	43447647	43447647	C	A	EPG5	c.6292G>T	NM_020964.3	NP_066015.2:p.(Val2098Phe)	NC_000018.9:g.43447647C>A	VUS	1 lab	bcc922e545
X:153195571 NAA10 C>G	X	153195571	153195571	C	G	NAA10	c.577G>C	NM_003491.3	NP_003482.1:p.(Ala193Pro)	NC_000023.10:g.153195571C>G	(Likely) benign	1 lab	bcc971ffc0
Y:2655375 SRY G>C	Y	2655375	2655375	G	C	SRY	c.270C>G	NM_003140.2	NP_003131.1:p.(Ile90Met)	NC_000024.9:g.2655375G>C	(Likely) pathogenic	1 lab	bccb5f14f6
1:36563583 COL8A2 C>T	1	36563583	36563583	C	T	COL8A2	c.1699G>A	NM_005202.3	NP_005193.1:p.(Gly567Ser)	NC_000001.10:g.36563583C>T	(Likely) benign	1 lab	bccb91cca3
X:70524047 ITGB1BP2 C>T	X	70524047	70524047	C	T	ITGB1BP2	c.650C>T	NM_012278.3	NP_036410.1:p.(Ser217Phe)	NC_000023.10:g.70524047C>T	VUS	1 lab	bccdac2878
6:157100430 ARID1B AGGCGGCGGC>A	6	157100430	157100444	AGGCGGCGGC	A	ARID1B	c.1622_1630del	NM_001374828.1	NP_001361757.1:p.(Ala541_Ala543del)	NC_000006.11:g.157100436_157100444del	VUS	1 lab	bccdb22120
6:137528200 IFNGR1 T>C	6	137528200	137528200	T	C	IFNGR1	c.70A>G	NM_001363526.1	NP_001350455.1:p.(Asn24Asp)	NC_000006.11:g.137528200T>C	(Likely) benign	1 lab	bcceba5a91
11:117232648 CEP164 C>G	11	117232648	117232648	C	G	CEP164	c.491C>G	NM_014956.4	NP_055771.4:p.(Ser164Cys)	NC_000011.9:g.117232648C>G	VUS	1 lab	bcd27dfbe6
18:33607181 RPRD1A T>A	18	33607181	33607181	T	A	RPRD1A	c.471A>T	NM_001303411.1	NP_001290340.1:p.(Glu157Asp)	NC_000018.9:g.33607181T>A	VUS	1 lab	bcd2c7dfb4
5:1280267 TERT A>G	5	1280267	1280267	A	G	TERT	c.1950+6T>C	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1280267A>G	(Likely) benign	1 lab	bcd3ba3f83
1:237947652 RYR2 A>C	1	237947652	237947652	A	C	RYR2	c.12640A>C	NM_001035.2	NP_001026.2:p.(Arg4214=)	NC_000001.10:g.237947652A>C	(Likely) benign	1 lab	bcd47ff47d
7:5567668 ACTB G>A	7	5567668	5567668	G	A	ACTB	c.951C>T	NM_001101.3	NP_001092.1:p.(Ile317=)	NC_000007.13:g.5567668G>A	(Likely) benign	1 lab	bcd4a37c69
13:23930007 SACS T>G	13	23930007	23930007	T	G	SACS	c.744A>C	NM_014363.5	NP_055178.3:p.(Ala248=)	NC_000013.10:g.23930007T>G	(Likely) benign	1 lab	bcd4e8bbaa
2:51255110 NRXN1 G>C	2	51255110	51255110	G	C	NRXN1	c.302C>G	NM_001135659.2	NP_001129131.1:p.(Ala101Gly)	NC_000002.11:g.51255110G>C	VUS	1 lab	bcd5028ada
18:43502391 EPG5 G>A	18	43502391	43502391	G	A	EPG5	c.3014C>T	NM_020964.3	NP_066015.2:p.(Thr1005Met)	NC_000018.9:g.43502391G>A	(Likely) benign	1 lab	bcd61ce630
19:3983184 EEF2 A>G	19	3983184	3983184	A	G	EEF2	c.324T>C	NM_001961.3	NP_001952.1:p.(His108=)	NC_000019.9:g.3983184A>G	(Likely) benign	1 lab	bcd630f723
3:45518119 LARS2 G>A	3	45518119	45518119	G	A	LARS2	c.1018G>A	NM_015340.4	NP_056155.1:p.(Asp340Asn)	NC_000003.11:g.45518119G>A	VUS	1 lab	bcd6c7da82
X:100492631 DRP2 A>G	X	100492631	100492631	A	G	DRP2	c.305A>G	NM_001939.2	NP_001930.2:p.(Asp102Gly)	NC_000023.10:g.100492631A>G	(Likely) benign	1 lab	bcd6ca58e5
17:29482990 NF1 TTTTTTTTCAG>T	17	29482990	29483000	TTTTTTTTCAG	T	NF1	c.61-10_61-1del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29482991_29483000del	(Likely) pathogenic	1 lab	bcd6d97b59
14:102452535 DYNC1H1 T>C	14	102452535	102452535	T	C	DYNC1H1	c.1973T>C	NM_001376.4	NP_001367.2:p.(Leu658Pro)	NC_000014.8:g.102452535T>C	VUS	1 lab	bcd9ab44c4
2:170038694 LRP2 G>C	2	170038694	170038694	G	C	LRP2	c.9981C>G	NM_004525.3	NP_004516.2:p.(Ala3327=)	NC_000002.11:g.170038694G>C	(Likely) benign	1 lab	bcdaf582ba
10:71332332 NEUROG3 G>T	10	71332332	71332332	G	T	NEUROG3	c.468C>A	NM_020999.3	NP_066279.2:p.(Cys156Ter)	NC_000010.10:g.71332332G>T	(Likely) pathogenic	1 lab	bcdbdc77b0
2:179472567 TTN G>A	2	179472567	179472567	G	A	TTN	c.52947C>T	NM_001267550.1	NP_001254479.1:p.(Ala17649=)	NC_000002.11:g.179472567G>A	(Likely) benign	1 lab	bcdc4b36f7
10:72360215 PRF1 G>A	10	72360215	72360215	G	A	PRF1	c.444C>T	NM_001083116.1	NP_001076585.1:p.(Ala148=)	NC_000010.10:g.72360215G>A	(Likely) benign	1 lab	bcdc6ed631
X:37953548 SYTL5 G>A	X	37953548	37953548	G	A	SYTL5	c.832G>A	NM_001163335.1	NP_001156807.1:p.(Glu278Lys)	NC_000023.10:g.37953548G>A	(Likely) benign	1 lab	bcdd36774c
1:180165519 QSOX1 C>T	1	180165519	180165519	C	T	QSOX1	c.1591C>T	NM_002826.5	NP_002817.2:p.(Leu531Phe)	NC_000001.10:g.180165519C>T	VUS	1 lab	bcdda54464
3:15736280 ANKRD28 T>A	3	15736280	15736280	T	A	ANKRD28	c.1736A>T	NM_001349277.1	NP_001336206.1:p.(Asp579Val)	NC_000003.11:g.15736280T>A	VUS	1 lab	bcde83bf74
12:21997708 ABCC9 G>T	12	21997708	21997708	G	T	ABCC9	c.3238C>A	NM_020297.2	NP_064693.2:p.(Pro1080Thr)	NC_000012.11:g.21997708G>T	VUS	1 lab	bcdf2cc89f
15:62320618 VPS13C G>A	15	62320618	62320618	G	A	VPS13C	c.387C>T	NM_001018088.2	NP_001018098.1:p.(Gly129=)	NC_000015.9:g.62320618G>A	VUS	1 lab	bce2c24af3
1:52830235 CC2D1B C>T	1	52830235	52830235	C	T	CC2D1B	c.58G>A	NM_032449.2	NP_115825.1:p.(Ala20Thr)	NC_000001.10:g.52830235C>T	(Likely) benign	1 lab	bce6f1c1e3
5:171484369 STK10 A>G	5	171484369	171484369	A	G	STK10	c.2321T>C	NM_005990.4	NP_005981.3:p.(Leu774Pro)	NC_000005.9:g.171484369A>G	VUS	1 lab	bce712dc1e
11:77921212 USP35 C>G	11	77921212	77921212	C	G	USP35	c.2311C>G	NM_020798.4	NP_065849.1:p.(Pro771Ala)	NC_000011.9:g.77921212C>G	VUS	1 lab	bce7c90661
9:13107072 MPDZ A>G	9	13107072	13107072	A	G	MPDZ	c.6105T>C	NM_001330637.1	NP_001317566.1:p.(Asp2035=)	NC_000009.11:g.13107072A>G	(Likely) benign	1 lab	bce99cc4fd
7:103629745 RELN G>A	7	103629745	103629745	G	A	RELN	c.59C>T	NM_005045.3	NP_005036.2:p.(Thr20Met)	NC_000007.13:g.103629745G>A	(Likely) benign	1 lab	bce9a8c411
21:47831892 PCNT C>T	21	47831892	47831892	C	T	PCNT	c.5905C>T	NM_006031.5	NP_006022.3:p.(Arg1969Cys)	NC_000021.8:g.47831892C>T	(Likely) benign	1 lab	bcea8240b2
2:179598422 TTN T>A	2	179598422	179598422	T	A	TTN	c.15694A>T	NM_001267550.1	NP_001254479.1:p.(Ile5232Phe)	NC_000002.11:g.179598422T>A	VUS	1 lab	bceabbbc4b
19:7506856 ARHGEF18 T>C	19	7506856	7506856	T	C	ARHGEF18	c.552T>C	NM_001130955.2	NP_001124427.2:p.(Ala184=)	NC_000019.9:g.7506856T>C	(Likely) benign	1 lab	bcebd8ef87
17:80887155 TBCD C>T	17	80887155	80887155	C	T	TBCD	c.2852+8C>T	NM_005993.4	NP_005984.3:p.?	NC_000017.10:g.80887155C>T	(Likely) benign	1 lab	bcec566cb9
1:183534901 NCF2 G>A	1	183534901	183534901	G	A	NCF2	c.938C>T	NM_000433.3	NP_000424.2:p.(Pro313Leu)	NC_000001.10:g.183534901G>A	(Likely) benign	1 lab	bced720fab
10:73569732 CDH23 G>A	10	73569732	73569732	G	A	CDH23	c.8878G>A	NM_022124.5	NP_071407.4:p.(Val2960Ile)	NC_000010.10:g.73569732G>A	VUS	1 lab	bced78e125
3:43474153 ANO10 T>C	3	43474153	43474153	T	C	ANO10	c.1864A>G	NM_018075.4	NP_060545.3:p.(Met622Val)	NC_000003.11:g.43474153T>C	(Likely) pathogenic	1 lab	bcedfa3c6e
4:151512009 LRBA T>G	4	151512009	151512009	T	G	LRBA	c.6082A>C	NM_006726.4	NP_006717.2:p.(Thr2028Pro)	NC_000004.11:g.151512009T>G	(Likely) benign	1 lab	bcf40e15b8
12:54801439 ITGA5 G>A	12	54801439	54801439	G	A	ITGA5	c.900C>T	NM_002205.5	NP_002196.4:p.(Tyr300=)	NC_000012.11:g.54801439G>A	(Likely) benign	1 lab	bcf80b8fff
4:169433108 PALLD C>T	4	169433108	169433108	C	T	PALLD	c.453C>T	NM_001166108.2	NP_001159580.1:p.(Asn151=)	NC_000004.11:g.169433108C>T	(Likely) benign	1 lab	bcf956aa7d
18:7023307 LAMA1 C>T	18	7023307	7023307	C	T	LAMA1	c.2557G>A	NM_005559.3	NP_005550.2:p.(Gly853Ser)	NC_000018.9:g.7023307C>T	VUS	1 lab	bcf9d9a6ce
6:33271606 TAPBP C>G	6	33271606	33271606	C	G	TAPBP	c.1461G>C	NM_172208.2	NP_757345.2:p.(Trp487Cys)	NC_000006.11:g.33271606C>G	(Likely) benign	1 lab	bcfb34e030
2:208986514 CRYGD C>T	2	208986514	208986514	C	T	CRYGD	c.408G>A	NM_006891.3	NP_008822.2:p.(Leu136=)	NC_000002.11:g.208986514C>T	(Likely) benign	1 lab	bcfb89c590
18:7036037 LAMA1 C>T	18	7036037	7036037	C	T	LAMA1	c.1788G>A	NM_005559.3	NP_005550.2:p.(Pro596=)	NC_000018.9:g.7036037C>T	(Likely) benign	1 lab	bcfd07b7e0
15:23890178 MAGEL2 G>A	15	23890178	23890178	G	A	MAGEL2	c.2712C>T	NM_019066.4	NP_061939.3:p.(Ala904=)	NC_000015.9:g.23890178G>A	(Likely) benign	1 lab	bcff29179f
8:65527751 CYP7B1 T>C	8	65527751	65527751	T	C	CYP7B1	c.889A>G	NM_004820.4	NP_004811.1:p.(Thr297Ala)	NC_000008.10:g.65527751T>C	VUS	1 lab	bd00c4d56a
3:129303038 PLXND1 G>A	3	129303038	129303038	G	A	PLXND1	c.2068C>T	NM_015103.2	NP_055918.2:p.(Arg690Trp)	NC_000003.11:g.129303038G>A	VUS	1 lab	bd01d90679
20:42935352 FITM2 G>A	20	42935352	42935352	G	A	FITM2	c.702C>T	NM_001080472.4	NP_001073941.1:p.(Tyr234=)	NC_000020.10:g.42935352G>A	(Likely) benign	1 lab	bd0212ab7e
19:1220721 STK11 G>A	19	1220721	1220721	G	A	STK11	c.734+5G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220721G>A	(Likely) pathogenic	1 lab	bd03a1ba7c
X:153668848 GDI1 T>C	X	153668848	153668848	T	C	GDI1	c.714T>C	NM_001493.2	NP_001484.1:p.(Phe238=)	NC_000023.10:g.153668848T>C	(Likely) benign	1 lab	bd03b36e85
3:48631838 COL7A1 C>T	3	48631838	48631838	C	T	COL7A1	c.229G>A	NM_000094.3	NP_000085.1:p.(Val77Met)	NC_000003.11:g.48631838C>T	VUS	1 lab	bd043258f4
20:10394104 MKKS T>C	20	10394104	10394104	T	C	MKKS	c.59A>G	NM_018848.3	NP_061336.1:p.(Glu20Gly)	NC_000020.10:g.10394104T>C	VUS	1 lab	bd05556b41
17:29661956 NF1 T>A	17	29661956	29661956	T	A	NF1	c.5850T>A	NM_000267.3	NP_000258.1:p.(Val1950=)	NC_000017.10:g.29661956T>A	(Likely) benign	1 lab	bd055eb785
17:19861645 AKAP10 A>G	17	19861645	19861645	A	G	AKAP10	c.559T>C	NM_007202.3	NP_009133.2:p.(Ser187Pro)	NC_000017.10:g.19861645A>G	(Likely) benign	1 lab	bd056dd0ea
X:19433368 MAP3K15 G>A	X	19433368	19433368	G	A	MAP3K15	c.1447C>T	NM_001001671.3	NP_001001671.3:p.(Arg483Ter)	NC_000023.10:g.19433368G>A	VUS	1 lab	bd05a0e4d2
11:64375147 NRXN2 A>AG	11	64375147	64375152	A	AG	NRXN2	c.4659dup	NM_015080.3	NP_055895.1:p.(Ser1554LeufsTer36)	NC_000011.9:g.64375152dup	VUS	1 lab	bd0647bcf9
1:9781259 PIK3CD C>T	1	9781259	9781259	C	T	PIK3CD	c.1764C>T	NM_005026.3	NP_005017.3:p.(Pro588=)	NC_000001.10:g.9781259C>T	(Likely) benign	1 lab	bd08053b80
10:69881920 MYPN C>T	10	69881920	69881920	C	T	MYPN	c.725C>T	NM_032578.3	NP_115967.2:p.(Ala242Val)	NC_000010.10:g.69881920C>T	(Likely) benign	1 lab	bd0ca3b117
7:35242141 TBX20 T>G	7	35242141	35242141	T	G	TBX20	c.1245A>C	NM_001077653.2	NP_001071121.1:p.(Ser415=)	NC_000007.13:g.35242141T>G	(Likely) benign	1 lab	bd0cae8df9
3:38798514 SCN10A G>A	3	38798514	38798514	G	A	SCN10A	c.1087C>T	NM_006514.3	NP_006505.3:p.(Gln363Ter)	NC_000003.11:g.38798514G>A	(Likely) pathogenic	1 lab	bd0ce9115d
4:25664244 SLC34A2 G>A	4	25664244	25664244	G	A	SLC34A2	c.112+10G>A	NM_001177999.1	NP_001171470.1:p.?	NC_000004.11:g.25664244G>A	(Likely) benign	1 lab	bd0d5301a2
9:43630640 SPATA31A6 G>A	9	43630640	43630640	G	A	SPATA31A6	c.62C>T	NM_001145196.1	NP_001138668.1:p.(Ser21Phe)	NC_000009.11:g.43630640G>A	(Likely) benign	1 lab	bd0f9c3228
11:69625179 FGF3 C>T	11	69625179	69625179	C	T	FGF3				NC_000011.9:g.69625179C>T	VUS	1 lab	bd10840dc5
X:148571952 IDS TAGCTCTGGC>T	X	148571952	148571961	TAGCTCTGGC	T	IDS	c.890_898del	NM_000202.8	NP_000193.1:p.(Arg297_Tyr300delinsHis)	NC_000023.10:g.148571953_148571961del	(Likely) pathogenic	1 lab	bd10a42709
1:103491841 COL11A1 T>A	1	103491841	103491841	T	A	COL11A1	c.828A>T	NM_001854.4	NP_001845.3:p.(Ala276=)	NC_000001.10:g.103491841T>A	(Likely) benign	1 lab	bd116a9e2b
12:122079116 ORAI1 A>G	12	122079116	122079116	A	G	ORAI1	c.473A>G	NM_032790.3	NP_116179.2:p.(Asn158Ser)	NC_000012.11:g.122079116A>G	VUS	1 lab	bd134c87c0
X:122765665 THOC2 T>C	X	122765665	122765665	T	C	THOC2	c.2355A>G	NM_001081550.1	NP_001075019.1:p.(Ala785=)	NC_000023.10:g.122765665T>C	(Likely) benign	1 lab	bd141d3ef9
11:82991269 CCDC90B A>G	11	82991269	82991269	A	G	CCDC90B	c.135T>C	NM_021825.4	NP_068597.2:p.(Asp45=)	NC_000011.9:g.82991269A>G	(Likely) benign	1 lab	bd143e90fa
16:69726605 NFAT5 A>C	16	69726605	69726605	A	C	NFAT5	c.2595A>C	NM_138714.3	NP_619728.2:p.(Ala865=)	NC_000016.9:g.69726605A>C	(Likely) benign	1 lab	bd143ee435
12:51100375 DIP2B C>T	12	51100375	51100375	C	T	DIP2B	c.2461C>T	NM_173602.2	NP_775873.2:p.(Arg821Ter)	NC_000012.11:g.51100375C>T	VUS	1 lab	bd147774db
6:152555001 SYNE1 G>A	6	152555001	152555001	G	A	SYNE1	c.20627C>T	NM_182961.3	NP_892006.3:p.(Thr6876Met)	NC_000006.11:g.152555001G>A	(Likely) benign	1 lab	bd156847a0
3:127327354 MCM2 G>A	3	127327354	127327354	G	A	MCM2	c.1231G>A	NM_004526.3	NP_004517.2:p.(Glu411Lys)	NC_000003.11:g.127327354G>A	VUS	1 lab	bd15c86321
17:72919053 USH1G G>A	17	72919053	72919053	G	A	USH1G	c.116C>T	NM_173477.4	NP_775748.2:p.(Ala39Val)	NC_000017.10:g.72919053G>A	VUS	1 lab	bd16b78478
20:3897570 PANK2 A>C	20	3897570	3897570	A	C	PANK2	c.540-4A>C	NM_001324191.1	NP_001311120.1:p.?	NC_000020.10:g.3897570A>C	(Likely) benign	1 lab	bd179a4f92
16:2546590 TBC1D24 C>T	16	2546590	2546590	C	T	TBC1D24	c.441C>T	NM_001199107.1	NP_001186036.1:p.(Asp147=)	NC_000016.9:g.2546590C>T	(Likely) benign	1 lab	bd1ad04bad
2:70900424 ADD2 C>T	2	70900424	70900424	C	T	ADD2	c.1776G>A	NM_017488.3	NP_059522.1:p.(Pro592=)	NC_000002.11:g.70900424C>T	(Likely) benign	1 lab	bd1b4d07ca
X:70149573 SLC7A3 G>A	X	70149573	70149573	G	A	SLC7A3	c.275C>T	NM_032803.5	NP_116192.4:p.(Pro92Leu)	NC_000023.10:g.70149573G>A	VUS	1 lab	bd1b8d39d6
X:53423409 SMC1A T>C	X	53423409	53423409	T	C	SMC1A	c.2625A>G	NM_001281463.1	NP_001268392.1:p.(Lys875=)	NC_000023.10:g.53423409T>C	(Likely) benign	1 lab	bd1bc3f791
4:79455715 FRAS1 A>G	4	79455715	79455715	A	G	FRAS1	c.11038A>G	NM_025074.7	NP_079350.5:p.(Asn3680Asp)	NC_000004.11:g.79455715A>G	VUS	1 lab	bd1d7959b0
13:32937380 BRCA2 A>G	13	32937380	32937380	A	G	BRCA2	c.8041A>G	NM_000059.3	NP_000050.2:p.(Thr2681Ala)	NC_000013.10:g.32937380A>G	(Likely) benign	1 lab	bd1d7c29d9
X:144904094 SLITRK2 T>C	X	144904094	144904094	T	C	SLITRK2	c.151T>C	NM_032539.4	NP_115928.1:p.(Phe51Leu)	NC_000023.10:g.144904094T>C	VUS	1 lab	bd1f8dc5f2
14:23884461 MYH7 C>T	14	23884461	23884461	C	T	MYH7	c.5302G>A	NM_000257.2	NP_000248.2:p.(Glu1768Lys)	NC_000014.8:g.23884461C>T	VUS	1 lab	bd1fa268f4
21:46917565 COL18A1 C>T	21	46917565	46917565	C	T	COL18A1	c.3213C>T	NM_030582.4	NP_085059.2:p.(Pro1071=)	NC_000021.8:g.46917565C>T	(Likely) benign	1 lab	bd21789120
14:68191843 RDH12 A>G	14	68191843	68191843	A	G	RDH12	c.215A>G	NM_152443.2	NP_689656.2:p.(Asp72Gly)	NC_000014.8:g.68191843A>G	VUS	1 lab	bd2758c4d1
X:20252919 RPS6KA3 A>G	X	20252919	20252919	A	G	RPS6KA3	c.83T>C	NM_004586.2	NP_004577.1:p.(Ile28Thr)	NC_000023.10:g.20252919A>G	VUS	1 lab	bd27948f7a
12:32902875 YARS2 G>A	12	32902875	32902875	G	A	YARS2	c.1270C>T	NM_001040436.2	NP_001035526.1:p.(Arg424Ter)	NC_000012.11:g.32902875G>A	(Likely) pathogenic	1 lab	bd281fa7ef
11:93521258 MED17 T>C	11	93521258	93521258	T	C	MED17	c.342T>C	NM_004268.4	NP_004259.3:p.(Asp114=)	NC_000011.9:g.93521258T>C	(Likely) benign	1 lab	bd2aba1eeb
15:43696727 TUBGCP4 C>A	15	43696727	43696727	C	A	TUBGCP4	c.1968C>A	NM_001286414.2	NP_001273343.1:p.(Thr656=)	NC_000015.9:g.43696727C>A	(Likely) benign	1 lab	bd2b7ab894
18:44146217 LOXHD1 T>C	18	44146217	44146217	T	C	LOXHD1	c.2437+3A>G	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44146217T>C	VUS	1 lab	df195b71e6
X:106843773 FRMPD3 G>A	X	106843773	106843773	G	A	FRMPD3	c.2603G>A	NM_032428.2	NP_115804.1:p.(Arg868His)	NC_000023.10:g.106843773G>A	(Likely) benign	1 lab	bd2ca6e037
9:90534240 SPATA31C1 G>A	9	90534240	90534240	G	A	SPATA31C1	c.260G>A	NM_001145124.1	NP_001138596.1:p.(Arg87Lys)	NC_000009.11:g.90534240G>A	(Likely) benign	1 lab	bd3108616a
4:88534970 DSPP A>C	4	88534970	88534970	A	C	DSPP	c.1156A>C	NM_014208.3	NP_055023.2:p.(Arg386=)	NC_000004.11:g.88534970A>C	(Likely) benign	1 lab	bd3127940a
X:152969498 BCAP31 G>A	X	152969498	152969498	G	A	BCAP31	c.594C>T	NM_001139457.2	NP_001132929.1:p.(Ala198=)	NC_000023.10:g.152969498G>A	(Likely) benign	1 lab	bd35ce4437
16:28489090 CLN3 A>T	16	28489090	28489090	A	T	CLN3	c.1165T>A	NM_001042432.1	NP_001035897.1:p.(Tyr389Asn)	NC_000016.9:g.28489090A>T	VUS	1 lab	bd36c71451
19:55526021 GP6 G>GTCAT	19	55526021	55526025	G	GTCAT	GP6	c.1288_1291dup	NM_001083899.2	NP_001077368.2:p.(Thr431AsnfsTer34)	NC_000019.9:g.55526022_55526025dup	(Likely) pathogenic	1 lab	bd36f19c53
19:12383784 ZNF44 G>C	19	12383784	12383784	G	C	ZNF44	c.1430C>G	NM_001164276.1	NP_001157748.1:p.(Ala477Gly)	NC_000019.9:g.12383784G>C	VUS	1 lab	bd3709c55e
11:66298476 BBS1 T>G	11	66298476	66298476	T	G	BBS1	c.1585T>G	NM_024649.4	NP_078925.3:p.(Ser529Ala)	NC_000011.9:g.66298476T>G	(Likely) benign	1 lab	bd38386027
19:48342873 CRX G>A	19	48342873	48342873	G	A	CRX	c.549G>A	NM_000554.5	NP_000545.1:p.(Gly183=)	NC_000019.9:g.48342873G>A	(Likely) benign	1 lab	bd392f7865
X:48783166 OTUD5 C>T	X	48783166	48783166	C	T	OTUD5	c.1235G>A	NM_017602.3	NP_060072.1:p.(Arg412Gln)	NC_000023.10:g.48783166C>T	(Likely) benign	1 lab	bd395ac419
9:131110863 SLC27A4 G>A	9	131110863	131110863	G	A	SLC27A4	c.596G>A	NM_005094.3	NP_005085.2:p.(Ser199Asn)	NC_000009.11:g.131110863G>A	VUS	1 lab	bd3a2db193
2:220100267 ANKZF1 T>C	2	220100267	220100267	T	C	ANKZF1	c.1763T>C	NM_018089.2	NP_060559.2:p.(Met588Thr)	NC_000002.11:g.220100267T>C	(Likely) benign	1 lab	bd3a32565b
18:28651677 DSC2 G>A	18	28651677	28651677	G	A	DSC2	c.2019C>T	NM_024422.4	NP_077740.1:p.(Thr673=)	NC_000018.9:g.28651677G>A	(Likely) benign	1 lab	bd3ba80639
10:48389955 RBP3 G>A	10	48389955	48389955	G	A	RBP3	c.923C>T	NM_002900.2	NP_002891.1:p.(Pro308Leu)	NC_000010.10:g.48389955G>A	VUS	1 lab	bd3fd07cb1
2:179588852 TTN G>A	2	179588852	179588852	G	A	TTN	c.21134C>T	NM_001267550.1	NP_001254479.1:p.(Ser7045Phe)	NC_000002.11:g.179588852G>A	VUS	1 lab	bd4125a813
15:85400894 ALPK3 A>G	15	85400894	85400894	A	G	ALPK3	c.3531A>G	NM_020778.4	NP_065829.3:p.(Thr1177=)	NC_000015.9:g.85400894A>G	(Likely) benign	1 lab	bd41eef349
1:5927859 NPHP4 T>A	1	5927859	5927859	T	A	NPHP4	c.3413A>T	NM_015102.4	NP_055917.1:p.(His1138Leu)	NC_000001.10:g.5927859T>A	VUS	1 lab	bd423db546
10:115341638 HABP2 T>C	10	115341638	115341638	T	C	HABP2	c.842T>C	NM_004132.4	NP_004123.1:p.(Val281Ala)	NC_000010.10:g.115341638T>C	(Likely) benign	1 lab	bd438f5db0
16:1391341 BAIAP3 C>T	16	1391341	1391341	C	T	BAIAP3	c.687C>T	NM_003933.4	NP_003924.2:p.(Asp229=)	NC_000016.9:g.1391341C>T	(Likely) benign	1 lab	bd4cf4a19d
19:4175693 SIRT6 C>T	19	4175693	4175693	C	T	SIRT6	c.598G>A	NM_016539.3	NP_057623.2:p.(Ala200Thr)	NC_000019.9:g.4175693C>T	VUS	1 lab	bd4d5c2ab2
2:220080843 ABCB6 G>A	2	220080843	220080843	G	A	ABCB6	c.1030C>T	NM_005689.2	NP_005680.1:p.(Arg344Trp)	NC_000002.11:g.220080843G>A	(Likely) benign	1 lab	bd4f2baf8c
1:240371558 FMN2 T>C	1	240371558	240371558	T	C	FMN2	c.3446T>C	NM_020066.5	NP_064450.3:p.(Val1149Ala)	NC_000001.10:g.240371558T>C	(Likely) benign	1 lab	bd4f9b840c
9:38595700 ANKRD18A A>G	9	38595700	38595700	A	G	ANKRD18A	c.1637T>C	NM_147195.4	NP_671728.2:p.(Ile546Thr)	NC_000009.11:g.38595700A>G	VUS	1 lab	bd5001fd61
4:84205780 COQ2 G>A	4	84205780	84205780	G	A	COQ2	c.288C>T	NM_015697.8	NP_056512.5:p.(Pro96=)	NC_000004.11:g.84205780G>A	(Likely) benign	1 lab	bd50616f42
16:72923700 ZFHX3 C>T	16	72923700	72923700	C	T	ZFHX3	c.3378G>A	NM_006885.3	NP_008816.3:p.(Lys1126=)	NC_000016.9:g.72923700C>T	(Likely) benign	1 lab	bd50df7f92
X:153594449 FLNA C>T	X	153594449	153594449	C	T	FLNA	c.1372G>A	NM_001110556.2	NP_001104026.1:p.(Val458Ile)	NC_000023.10:g.153594449C>T	(Likely) benign	1 lab	bd53daae5a
16:67208993 NOL3 C>G	16	67208993	67208993	C	G	NOL3	c.653C>G	NM_001185057.2	NP_001171986.1:p.(Ala218Gly)	NC_000016.9:g.67208993C>G	(Likely) benign	1 lab	bd55babdb4
X:105278353 SERPINA7 G>C	X	105278353	105278353	G	C	SERPINA7	c.917C>G	NM_000354.5	NP_000345.2:p.(Pro306Arg)	NC_000023.10:g.105278353G>C	VUS	1 lab	bd57726616
7:48390325 ABCA13 C>T	7	48390325	48390325	C	T	ABCA13	c.10290C>T	NM_152701.4	NP_689914.3:p.(Cys3430=)	NC_000007.13:g.48390325C>T	(Likely) benign	1 lab	bd577384ec
14:77493189 IRF2BPL G>A	14	77493189	77493189	G	A	IRF2BPL	c.947C>T	NM_024496.4	NP_078772.1:p.(Thr316Ile)	NC_000014.8:g.77493189G>A	(Likely) benign	1 lab	bd57b8033a
20:52193060 ZNF217 A>C	20	52193060	52193060	A	C	ZNF217	c.2243T>G	NM_006526.2	NP_006517.1:p.(Leu748Trp)	NC_000020.10:g.52193060A>C	VUS	1 lab	bd57bbdb34
1:110612906 ALX3 GGAA>G	1	110612906	110612917	GGAA	G	ALX3	c.277+49_277+51del	NM_006492.3	NP_006483.2:p.?	NC_000001.10:g.110612915_110612917del	(Likely) benign	1 lab	bd592e42b0
X:39934046 BCOR T>C	X	39934046	39934046	T	C	BCOR	c.553A>G	NM_001123385.1	NP_001116857.1:p.(Ser185Gly)	NC_000023.10:g.39934046T>C	VUS	1 lab	bd5bd9bc45
13:111114732 COL4A2 G>A	13	111114732	111114732	G	A	COL4A2	c.1776+1G>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111114732G>A	VUS	1 lab	bd5c2d819e
1:98386442 DPYD C>T	1	98386442	98386442	C	T	DPYD	c.37G>A	NM_000110.3	NP_000101.2:p.(Glu13Lys)	NC_000001.10:g.98386442C>T	(Likely) benign	1 lab	bd5dd62eee
16:2161666 PKD1 G>C	16	2161666	2161666	G	C	PKD1	c.3502C>G	NM_001009944.2	NP_001009944.2:p.(Pro1168Ala)	NC_000016.9:g.2161666G>C	(Likely) benign	1 lab	bd5e37e062
17:42089384 TMEM101 C>T	17	42089384	42089384	C	T	TMEM101	c.686G>A	NM_032376.4	NP_115752.1:p.(Arg229Gln)	NC_000017.10:g.42089384C>T	VUS	1 lab	bd60749055
X:10062252 WWC3 C>T	X	10062252	10062252	C	T	WWC3	c.588C>T	NM_015691.3	NP_056506.2:p.(Gly196=)	NC_000023.10:g.10062252C>T	VUS	1 lab	bd6118e2e3
2:43801489 THADA A>G	2	43801489	43801489	A	G	THADA	c.1715T>C	NM_001083953.1	NP_001077422.1:p.(Ile572Thr)	NC_000002.11:g.43801489A>G	(Likely) benign	1 lab	bd70e7e869
13:29236626 POMP A>C	13	29236626	29236626	A	C	POMP	c.83A>C	NM_015932.5	NP_057016.1:p.(His28Pro)	NC_000013.10:g.29236626A>C	(Likely) benign	1 lab	bd627eca84
16:70546288 COG4 G>A	16	70546288	70546288	G	A	COG4	c.592C>T	NM_015386.2	NP_056201.2:p.(Arg198Cys)	NC_000016.9:g.70546288G>A	(Likely) benign	1 lab	bd643f649f
17:78064094 CCDC40 G>A	17	78064094	78064094	G	A	CCDC40	c.2989G>A	NM_001243342.1	NP_001230271.1:p.(Ala997Thr)	NC_000017.10:g.78064094G>A	VUS	1 lab	bd66362e7c
7:82595361 PCLO A>G	7	82595361	82595361	A	G	PCLO	c.3743T>C	NM_033026.5	NP_149015.2:p.(Leu1248Pro)	NC_000007.13:g.82595361A>G	(Likely) benign	1 lab	bd68c37589
16:50821724 CYLD TT>C	16	50821724	50821725	TT	C	CYLD	c.2069_2070delinsC	NM_015247.2	NP_056062.1:p.(Phe690SerfsTer5)	NC_000016.9:g.50821724_50821725delinsC	(Likely) pathogenic	1 lab	bd6a8ce3a5
17:37883696 ERBB2 C>T	17	37883696	37883696	C	T	ERBB2	c.3263C>T	NM_001289936.1	NP_001276865.1:p.(Thr1088Ile)	NC_000017.10:g.37883696C>T	(Likely) benign	1 lab	bd6d2c3911
2:152460206 NEB C>A	2	152460206	152460206	C	A	NEB	c.13140G>T	NM_001271208.1	NP_001258137.1:p.(Lys4380Asn)	NC_000002.11:g.152460206C>A	VUS	1 lab	bd6f40fdb6
7:105182993 RINT1 G>A	7	105182993	105182993	G	A	RINT1	c.412G>A	NM_021930.5	NP_068749.3:p.(Ala138Thr)	NC_000007.13:g.105182993G>A	(Likely) benign	1 lab	bd6fa585bd
8:37729668 RAB11FIP1 G>C	8	37729668	37729668	G	C	RAB11FIP1	c.2652C>G	NM_001002814.2	NP_001002814.2:p.(His884Gln)	NC_000008.10:g.37729668G>C	(Likely) benign	1 lab	bd715bedbe
X:67940246 STARD8 G>A	X	67940246	67940246	G	A	STARD8	c.2030G>A	NM_001142503.2	NP_001135975.1:p.(Arg677His)	NC_000023.10:g.67940246G>A	(Likely) benign	1 lab	bd733a34d8
11:111724212 ALG9 A>G	11	111724212	111724212	A	G	ALG9	c.202-4T>C	NM_001352422.1	NP_001339351.1:p.?	NC_000011.9:g.111724212A>G	(Likely) benign	1 lab	bd76523939
12:57597252 LRP1 C>T	12	57597252	57597252	C	T	LRP1	c.10899C>T	NM_002332.2	NP_002323.2:p.(Asp3633=)	NC_000012.11:g.57597252C>T	(Likely) benign	1 lab	bd76ba7a19
11:18313027 HPS5 C>T	11	18313027	18313027	C	T	HPS5	c.2402G>A	NM_181507.1	NP_852608.1:p.(Ser801Asn)	NC_000011.9:g.18313027C>T	(Likely) benign	1 lab	bd76ce8c4a
16:50744594 NOD2 G>C	16	50744594	50744594	G	C	NOD2	c.772G>C	NM_022162.1	NP_071445.1:p.(Glu258Gln)	NC_000016.9:g.50744594G>C	VUS	1 lab	bd780a9ad9
1:240255471 FMN2 G>T	1	240255471	240255471	G	T	FMN2	c.62G>T	NM_020066.5	NP_064450.3:p.(Gly21Val)	NC_000001.10:g.240255471G>T	VUS	1 lab	bd781d1bab
1:154437622 IL6R G>A	1	154437622	154437622	G	A	IL6R	c.1079G>A	NM_181359.2	NP_852004.1:p.(Arg360His)	NC_000001.10:g.154437622G>A	(Likely) benign	1 lab	bd7b074648
9:71867802 TJP2 G>A	9	71867802	71867802	G	A	TJP2	c.3393G>A	NM_004817.4	NP_004808.2:p.(Thr1131=)	NC_000009.11:g.71867802G>A	(Likely) benign	1 lab	bd7b65852b
1:152283530 FLG T>C	1	152283530	152283530	T	C	FLG	c.3832A>G	NM_002016.1	NP_002007.1:p.(Arg1278Gly)	NC_000001.10:g.152283530T>C	(Likely) benign	1 lab	bd7c00a82d
17:29661862 NF1 AATTGAAAC>A	17	29661862	29661871	AATTGAAAC	A	NF1	c.5821_5828del	NM_001042492.3	NP_001035957.1:p.(Leu1941ProfsTer20)	NC_000017.10:g.29661864_29661871del	(Likely) pathogenic	1 lab	bd7c22e928
13:103520453 ERCC5 T>G	13	103520453	103520453	T	G	ERCC5	c.2534-10T>G	NM_000123.3	NP_000114.2:p.?	NC_000013.10:g.103520453T>G	(Likely) benign	1 lab	bd7fc24592
X:129518927 GPR119 G>A	X	129518927	129518927	G	A	GPR119	c.495C>T	NM_178471.2	NP_848566.1:p.(Phe165=)	NC_000023.10:g.129518927G>A	(Likely) benign	1 lab	bd825f5433
14:105417151 AHNAK2 G>A	14	105417151	105417151	G	A	AHNAK2	c.4637C>T	NM_138420.3	NP_612429.2:p.(Pro1546Leu)	NC_000014.8:g.105417151G>A	(Likely) benign	1 lab	bd83221e83
9:139841003 C8G T>C	9	139841003	139841003	T	C	C8G	c.541T>C	NM_000606.3	NP_000597.2:p.(Tyr181His)	NC_000009.11:g.139841003T>C	VUS	1 lab	bd833f5ceb
8:19675079 INTS10 G>T	8	19675079	19675079	G	T	INTS10	c.31G>T	NM_018142.4	NP_060612.2:p.(Val11Leu)	NC_000008.10:g.19675079G>T	VUS	1 lab	bd852bd05f
5:73183501 ARHGEF28 C>T	5	73183501	73183501	C	T	ARHGEF28	c.3384C>T	NM_001080479.2	NP_001073948.2:p.(Ala1128=)	NC_000005.9:g.73183501C>T	(Likely) benign	1 lab	bd8644745f
15:23889278 MAGEL2 G>C	15	23889278	23889278	G	C	MAGEL2	c.3612C>G	NM_019066.4	NP_061939.3:p.(Leu1204=)	NC_000015.9:g.23889278G>C	(Likely) benign	1 lab	bd86f72bc5
11:20657855 SLC6A5 C>T	11	20657855	20657855	C	T	SLC6A5	c.1627C>T	NM_004211.4	NP_004202.3:p.(Pro543Ser)	NC_000011.9:g.20657855C>T	VUS	1 lab	bd874374bc
6:99912592 USP45 T>C	6	99912592	99912592	T	C	USP45	c.1196A>G	NM_001080481.1	NP_001073950.1:p.(Asn399Ser)	NC_000006.11:g.99912592T>C	(Likely) benign	1 lab	bd876c14b4
5:150901352 FAT2 T>C	5	150901352	150901352	T	C	FAT2	c.10802A>G	NM_001447.2	NP_001438.1:p.(Asn3601Ser)	NC_000005.9:g.150901352T>C	VUS	1 lab	bd88ee96bc
17:29677331 NF1 C>CT	17	29677331	29677332	C	CT	NF1	c.7390dup	NM_000267.3	NP_000258.1:p.(Tyr2464LeufsTer2)	NC_000017.10:g.29677332dup	(Likely) pathogenic	1 lab	bd88f4cd27
1:11847759 MTHFR C>T	1	11847759	11847759	C	T	MTHFR	c.*2978G>A	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11847759C>T	(Likely) benign	1 lab	bd89530a78
1:198666000 PTPRC C>T	1	198666000	198666000	C	T	PTPRC	c.260C>T	NM_002838.4	NP_002829.3:p.(Pro87Leu)	NC_000001.10:g.198666000C>T	(Likely) benign	1 lab	bd8ab4e03d
10:102566300 PAX2 G>A	10	102566300	102566300	G	A	PAX2	c.730G>A	NM_003988.4	NP_003979.2:p.(Val244Ile)	NC_000010.10:g.102566300G>A	VUS	1 lab	bd8b551294
6:165711518 C6orf118 C>T	6	165711518	165711518	C	T	C6orf118	c.1009G>A	NM_144980.4	NP_659417.2:p.(Glu337Lys)	NC_000006.11:g.165711518C>T	(Likely) benign	1 lab	bd8b750f62
1:29520542 MECR T>C	1	29520542	29520542	T	C	MECR	c.886A>G	NM_001024732.3	NP_001019903.3:p.(Thr296Ala)	NC_000001.10:g.29520542T>C	(Likely) benign	1 lab	bd8b81c1fd
1:228412409 OBSCN G>A	1	228412409	228412409	G	A	OBSCN	c.3179G>A	NM_001271223.2	NP_001258152.2:p.(Arg1060Gln)	NC_000001.10:g.228412409G>A	(Likely) benign	1 lab	bd8b9e1fc2
4:120212365 USP53 A>C	4	120212365	120212365	A	C	USP53	c.2297A>C	NM_019050.2	NP_061923.2:p.(His766Pro)	NC_000004.11:g.120212365A>C	VUS	1 lab	bd8e33769e
12:56349421 PMEL G>C	12	56349421	56349421	G	C	PMEL	c.1589C>G	NM_006928.4	NP_008859.1:p.(Ser530Trp)	NC_000012.11:g.56349421G>C	VUS	1 lab	bd8f0b1ff6
3:49750966 RNF123 C>T	3	49750966	49750966	C	T	RNF123	c.2695C>T	NM_022064.4	NP_071347.2:p.(Arg899Cys)	NC_000003.11:g.49750966C>T	VUS	1 lab	bd91580e68
2:179442246 TTN A>G	2	179442246	179442246	A	G	TTN	c.68825-9T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179442246A>G	(Likely) benign	1 lab	bd91af054e
10:112359472 SMC3 T>C	10	112359472	112359472	T	C	SMC3	c.2329T>C	NM_005445.3	NP_005436.1:p.(Leu777=)	NC_000010.10:g.112359472T>C	(Likely) benign	1 lab	bd91b6581c
X:67938096 STARD8 C>T	X	67938096	67938096	C	T	STARD8	c.1340C>T	NM_001142503.2	NP_001135975.1:p.(Pro447Leu)	NC_000023.10:g.67938096C>T	(Likely) benign	1 lab	bd9264766f
13:39454428 FREM2 T>TA	13	39454428	39454429	T	TA	FREM2	c.9015dup	NM_207361.5	NP_997244.4:p.(Gly3006ArgfsTer63)	NC_000013.10:g.39454429dup	(Likely) pathogenic	1 lab	bd92de930d
X:53280133 IQSEC2 C>T	X	53280133	53280133	C	T	IQSEC2	c.1625G>A	NM_001111125.2	NP_001104595.1:p.(Arg542Gln)	NC_000023.10:g.53280133C>T	(Likely) benign	1 lab	bd93336b14
5:172660013 NKX2-5 C>T	5	172660013	172660013	C	T	NKX2-5	c.534G>A	NM_004387.3	NP_004378.1:p.(Thr178=)	NC_000005.9:g.172660013C>T	(Likely) benign	1 lab	bd987107ab
19:7712321 STXBP2 C>T	19	7712321	7712321	C	T	STXBP2	c.1653C>T	NM_001272034.1	NP_001258963.1:p.(Gly551=)	NC_000019.9:g.7712321C>T	(Likely) benign	1 lab	bd993d2600
1:103380377 COL11A1 G>T	1	103380377	103380377	G	T	COL11A1	c.3853-10C>A	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103380377G>T	(Likely) benign	1 lab	bd9ad3f57e
10:79777384 POLR3A C>T	10	79777384	79777384	C	T	POLR3A	c.1380G>A	NM_007055.3	NP_008986.2:p.(Val460=)	NC_000010.10:g.79777384C>T	(Likely) benign	1 lab	bd9deb81c4
11:47363567 MYBPC3 G>C	11	47363567	47363567	G	C	MYBPC3	c.1765C>G	NM_000256.3	NP_000247.2:p.(Arg589Gly)	NC_000011.9:g.47363567G>C	(Likely) pathogenic	1 lab	bd9e087d85
3:42244150 TRAK1 C>T	3	42244150	42244150	C	T	TRAK1	c.1650C>T	NM_001042646.3	NP_001036111.1:p.(His550=)	NC_000003.11:g.42244150C>T	(Likely) benign	1 lab	bd9f50e282
7:21939074 DNAH11 C>G	7	21939074	21939074	C	G	DNAH11				NC_000007.13:g.21939074C>G	(Likely) benign	1 lab	bda0def574
12:49435160 KMT2D G>C	12	49435160	49435160	G	C	KMT2D	c.6393C>G	NM_003482.3	NP_003473.3:p.(Thr2131=)	NC_000012.11:g.49435160G>C	(Likely) benign	1 lab	bda30a7d75
6:107475854 PDSS2 T>C	6	107475854	107475854	T	C	PDSS2	c.1169A>G	NM_020381.3	NP_065114.3:p.(Asn390Ser)	NC_000006.11:g.107475854T>C	VUS	1 lab	bda3365a84
10:85968077 CDHR1 C>T	10	85968077	85968077	C	T	CDHR1	c.1111C>T	NM_033100.4	NP_149091.1:p.(Pro371Ser)	NC_000010.10:g.85968077C>T	VUS	1 lab	bda60694b9
7:147259306 CNTNAP2 C>T	7	147259306	147259306	C	T	CNTNAP2	c.1854C>T	NM_014141.5	NP_054860.1:p.(Gly618=)	NC_000007.13:g.147259306C>T	(Likely) benign	1 lab	bda6b19aa5
11:6584666 DNHD1 G>C	11	6584666	6584666	G	C	DNHD1	c.9724G>C	NM_144666.2	NP_653267.2:p.(Glu3242Gln)	NC_000011.9:g.6584666G>C	VUS	1 lab	bda7405996
2:55870538 PNPT1 A>G	2	55870538	55870538	A	G	PNPT1	c.1929T>C	NM_033109.4	NP_149100.2:p.(Asp643=)	NC_000002.11:g.55870538A>G	(Likely) benign	1 lab	bda8935aba
3:184046409 EIF4G1 C>T	3	184046409	184046409	C	T	EIF4G1	c.3957-10C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184046409C>T	(Likely) benign	1 lab	bda8d4a9e0
X:150773199 PASD1 C>T	X	150773199	150773199	C	T	PASD1	c.110C>T	NM_173493.2	NP_775764.2:p.(Thr37Met)	NC_000023.10:g.150773199C>T	(Likely) benign	1 lab	bdaac265aa
7:1538414 INTS1 G>A	7	1538414	1538414	G	A	INTS1	c.1212C>T	NM_001080453.3	NP_001073922.2:p.(Asp404=)	NC_000007.13:g.1538414G>A	(Likely) benign	1 lab	bdaae1e663
13:113882297 CUL4A C>A	13	113882297	113882297	C	A	CUL4A	c.76C>A	NM_001278513.2	NP_001265442.1:p.(Leu26Ile)	NC_000013.10:g.113882297C>A	VUS	1 lab	bdaca8cda5
17:17127243 FLCN G>T	17	17127243	17127243	G	T	FLCN	c.611C>A	NM_001353230.1	NP_001340159.1:p.(Ala204Glu)	NC_000017.10:g.17127243G>T	(Likely) pathogenic	1 lab	bdacd9ff37
7:55087031 EGFR G>A	7	55087031	55087031	G	A	EGFR	c.61G>A	NM_005228.3	NP_005219.2:p.(Ala21Thr)	NC_000007.13:g.55087031G>A	(Likely) benign	1 lab	bdace2b9e6
22:30856132 SEC14L3 G>C	22	30856132	30856132	G	C	SEC14L3	c.851-3C>G	NM_001257378.1	NP_001244307.1:p.?	NC_000022.10:g.30856132G>C	VUS	1 lab	bdad82da38
10:50732235 ERCC6 T>G	10	50732235	50732235	T	G	ERCC6	c.1241A>C	NM_000124.2	NP_000115.1:p.(Gln414Pro)	NC_000010.10:g.50732235T>G	(Likely) benign	1 lab	bdaeebd0e0
20:62373831 SLC2A4RG C>T	20	62373831	62373831	C	T	SLC2A4RG	c.823C>T	NM_020062.3	NP_064446.2:p.(Arg275Cys)	NC_000020.10:g.62373831C>T	(Likely) benign	1 lab	bdb0280bb1
1:29543325 MECR C>A	1	29543325	29543325	C	A	MECR	c.-179-1G>T	NM_001349712.1	NP_001336641.1:p.?	NC_000001.10:g.29543325C>A	VUS	1 lab	bdb434e1ee
14:95583949 DICER1 T>C	14	95583949	95583949	T	C	DICER1	c.1509+10A>G	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95583949T>C	(Likely) benign	1 lab	bdb548f505
17:76991127 CANT1 G>A	17	76991127	76991127	G	A	CANT1	c.808C>T	NM_138793.3	NP_620148.1:p.(Arg270Trp)	NC_000017.10:g.76991127G>A	VUS	1 lab	bdb5665765
X:50653817 BMP15 C>T	X	50653817	50653817	C	T	BMP15	c.34C>T	NM_005448.2	NP_005439.2:p.(Leu12Phe)	NC_000023.10:g.50653817C>T	(Likely) benign	1 lab	bdb587fbd0
4:183601724 TENM3 C>T	4	183601724	183601724	C	T	TENM3	c.1668C>T	NM_001080477.3	NP_001073946.1:p.(Asn556=)	NC_000004.11:g.183601724C>T	(Likely) benign	1 lab	bdb5d01966
5:90083953 ADGRV1 A>AGACCCAG	5	90083953	90083960	A	AGACCCAG	ADGRV1	c.13720_13726dup	NM_032119.4	NP_115495.3:p.(Val4576GlyfsTer27)	NC_000005.9:g.90083954_90083960dup	(Likely) pathogenic	1 lab	bdb6f6a804
22:50659281 TUBGCP6 G>C	22	50659281	50659281	G	C	TUBGCP6	c.3507C>G	NM_020461.3	NP_065194.2:p.(Ile1169Met)	NC_000022.10:g.50659281G>C	VUS	1 lab	bdb7ac11c8
14:102442056 DYNC1H1 C>T	14	102442056	102442056	C	T	DYNC1H1	c.264C>T	NM_001376.4	NP_001367.2:p.(Val88=)	NC_000014.8:g.102442056C>T	(Likely) benign	1 lab	bdb95f490a
5:90077317 ADGRV1 A>G	5	90077317	90077317	A	G	ADGRV1	c.13153A>G	NM_032119.4	NP_115495.3:p.(Ile4385Val)	NC_000005.9:g.90077317A>G	(Likely) benign	1 lab	bdba19ba74
10:85972932 CDHR1 A>G	10	85972932	85972932	A	G	CDHR1	c.1868A>G	NM_033100.4	NP_149091.1:p.(Asn623Ser)	NC_000010.10:g.85972932A>G	(Likely) benign	1 lab	bdba2f0fb7
21:45651155 MISSING G>A	21	45651155	45651155	G	A	MISSING				NC_000021.8:g.45651155G>A	(Likely) benign	1 lab	bdbce58aa8
11:621643 CDHR5 G>A	11	621643	621643	G	A	CDHR5	c.426C>T	NM_021924.4	NP_068743.2:p.(Thr142=)	NC_000011.9:g.621643G>A	(Likely) benign	1 lab	bdbd1c2282
5:158747351 IL12B A>T	5	158747351	158747351	A	T	IL12B	c.660T>A	NM_002187.2	NP_002178.2:p.(Tyr220Ter)	NC_000005.9:g.158747351A>T	(Likely) pathogenic	1 lab	bdbff6d34f
X:2867359 ARSL C>T	X	2867359	2867359	C	T	ARSL	c.915G>A	NM_001282628.1	NP_001269557.1:p.(Ala305=)	NC_000023.10:g.2867359C>T	(Likely) benign	1 lab	bdc25742c1
2:220437303 INHA C>T	2	220437303	220437303	C	T	INHA	c.207C>T	NM_002191.4	NP_002182.1:p.(His69=)	NC_000002.11:g.220437303C>T	(Likely) benign	1 lab	bdc2fa05ad
9:133901841 LAMC3 C>T	9	133901841	133901841	C	T	LAMC3	c.543C>T	NM_006059.3	NP_006050.3:p.(Pro181=)	NC_000009.11:g.133901841C>T	(Likely) benign	1 lab	bdc30e3f8d
15:43398174 UBR1 G>A	15	43398174	43398174	G	A	UBR1	c.47C>T	NM_174916.2	NP_777576.1:p.(Ala16Val)	NC_000015.9:g.43398174G>A	(Likely) benign	1 lab	bdc4ebffd6
X:79286499 TBX22 A>T	X	79286499	79286499	A	T	TBX22	c.1452A>T	NM_001109878.1	NP_001103348.1:p.(Arg484Ser)	NC_000023.10:g.79286499A>T	VUS	1 lab	bdc560a45d
5:131973910 RAD50 C>T	5	131973910	131973910	C	T	RAD50	c.3613C>T	NM_005732.3	NP_005723.2:p.(Gln1205Ter)	NC_000005.9:g.131973910C>T	(Likely) pathogenic	1 lab	bdc685d35c
6:152777097 SYNE1 G>T	6	152777097	152777097	G	T	SYNE1	c.2651C>A	NM_182961.3	NP_892006.3:p.(Thr884Asn)	NC_000006.11:g.152777097G>T	(Likely) benign	1 lab	bdc68e9d54
18:67807396 RTTN C>T	18	67807396	67807396	C	T	RTTN	c.2610G>A	NM_173630.3	NP_775901.3:p.(Lys870=)	NC_000018.9:g.67807396C>T	(Likely) benign	1 lab	bdc7439e2a
X:3241502 MXRA5 T>C	X	3241502	3241502	T	C	MXRA5	c.2224A>G	NM_015419.3	NP_056234.2:p.(Arg742Gly)	NC_000023.10:g.3241502T>C	(Likely) benign	1 lab	bdc84f1d13
11:290781 PGGHG G>A	11	290781	290781	G	A	PGGHG	c.574G>A	NM_025092.4	NP_079368.3:p.(Gly192Ser)	NC_000011.9:g.290781G>A	VUS	1 lab	bdca095078
1:235972210 LYST A>G	1	235972210	235972210	A	G	LYST	c.1908T>C	NM_001301365.1	NP_001288294.1:p.(Ala636=)	NC_000001.10:g.235972210A>G	(Likely) benign	1 lab	bdcb2805eb
17:8808966 PIK3R5 C>T	17	8808966	8808966	C	T	PIK3R5	c.273+20G>A	NM_014308.3	NP_055123.2:p.?	NC_000017.10:g.8808966C>T	(Likely) benign	1 lab	bdcc42aff6
6:17600824 FAM8A1 G>A	6	17600824	17600824	G	A	FAM8A1	c.184G>A	NM_016255.3	NP_057339.1:p.(Ala62Thr)	NC_000006.11:g.17600824G>A	(Likely) benign	1 lab	bdcd15c197
2:179517980 TTN C>T	2	179517980	179517980	C	T	TTN	c.38776G>A	NM_001267550.1	NP_001254479.1:p.(Val12926Ile)	NC_000002.11:g.179517980C>T	VUS	1 lab	bdceb49fcf
14:76438060 TGFB3 G>A	14	76438060	76438060	G	A	TGFB3	c.354C>T	NM_001329939.1	NP_001316868.1:p.(Asn118=)	NC_000014.8:g.76438060G>A	(Likely) benign	1 lab	bdcf3eb056
8:6293680 MCPH1 C>T	8	6293680	6293680	C	T	MCPH1	c.433C>T	NM_024596.4	NP_078872.2:p.(Leu145=)	NC_000008.10:g.6293680C>T	(Likely) benign	1 lab	bdd0b7696a
4:120072108 MYOZ2 G>A	4	120072108	120072108	G	A	MYOZ2	c.158G>A	NM_016599.4	NP_057683.1:p.(Arg53His)	NC_000004.11:g.120072108G>A	VUS	1 lab	bdd2c50362
2:25469493 DNMT3A T>G	2	25469493	25469493	T	G	DNMT3A	c.1275A>C	NM_175629.2	NP_783328.1:p.(Pro425=)	NC_000002.11:g.25469493T>G	(Likely) benign	1 lab	bdd34ded42
2:29294957 PCARE CCT>C	2	29294957	29294961	CCT	C	PCARE	c.2169_2170del	NM_001029883.3	NP_001025054.1:p.(Gly724LeufsTer12)	NC_000002.11:g.29294960_29294961del	(Likely) pathogenic	1 lab	bdd3b24261
17:7802370 CHD3 C>T	17	7802370	7802370	C	T	CHD3	c.2370C>T	NM_001005271.2	NP_001005271.2:p.(Ala790=)	NC_000017.10:g.7802370C>T	(Likely) benign	1 lab	bdd5f60219
2:179432485 TTN A>G	2	179432485	179432485	A	G	TTN	c.78374T>C	NM_001267550.1	NP_001254479.1:p.(Val26125Ala)	NC_000002.11:g.179432485A>G	VUS	1 lab	bdd6533f78
5:137522908 KIF20A A>C	5	137522908	137522908	A	C	KIF20A	c.2479A>C	NM_005733.3	NP_005724.1:p.(Lys827Gln)	NC_000005.9:g.137522908A>C	VUS	1 lab	bdd839c613
3:132434023 NPHP3 G>A	3	132434023	132434023	G	A	NPHP3	c.863C>T	NM_153240.4	NP_694972.3:p.(Thr288Ile)	NC_000003.11:g.132434023G>A	VUS	1 lab	bdd92c505d
1:180804066 XPR1 G>A	1	180804066	180804066	G	A	XPR1	c.1191G>A	NM_004736.3	NP_004727.2:p.(Ala397=)	NC_000001.10:g.180804066G>A	(Likely) benign	1 lab	bdda89b654
3:136046020 PCCB AT>A	3	136046020	136046021	AT	A	PCCB	c.1223del	NM_000532.5	NP_000523.2:p.(Ile408ThrfsTer35)	NC_000003.11:g.136046021del	(Likely) pathogenic	1 lab	bddab5020d
1:11009855 CIROZ C>T	1	11009855	11009855	C	T	CIROZ	c.1116G>A	NM_001170754.1	NP_001164225.1:p.(Ser372=)	NC_000001.10:g.11009855C>T	(Likely) benign	1 lab	bddadb54ad
7:128488685 FLNC G>A	7	128488685	128488685	G	A	FLNC	c.4651G>A	NM_001458.4	NP_001449.3:p.(Ala1551Thr)	NC_000007.13:g.128488685G>A	VUS	1 lab	bddb3978c2
9:100845319 NANS CA>C	9	100845319	100845326	CA	C	NANS	c.1069del	NM_018946.4	NP_061819.2:p.(Ile357SerfsTer?)	NC_000009.11:g.100845326del	VUS	1 lab	bddc42b540
1:152277051 FLG G>A	1	152277051	152277051	G	A	FLG	c.10311C>T	NM_002016.1	NP_002007.1:p.(His3437=)	NC_000001.10:g.152277051G>A	(Likely) benign	1 lab	bddc453051
12:2690933 CACNA1C C>T	12	2690933	2690933	C	T	CACNA1C	c.2073C>T	NM_199460.3	NP_955630.3:p.(Asn691=)	NC_000012.11:g.2690933C>T	(Likely) benign	1 lab	bddd2c45ff
11:101342908 TRPC6 A>C	11	101342908	101342908	A	C	TRPC6	c.2165T>G	NM_004621.5	NP_004612.2:p.(Met722Arg)	NC_000011.9:g.101342908A>C	VUS	1 lab	bdde732b3c
7:151878993 KMT2C T>G	7	151878993	151878993	T	G	KMT2C	c.5952A>C	NM_170606.2	NP_733751.2:p.(Leu1984=)	NC_000007.13:g.151878993T>G	(Likely) benign	1 lab	bddf0b068f
8:48731966 PRKDC G>C	8	48731966	48731966	G	C	PRKDC	c.9442C>G	NM_006904.6	NP_008835.5:p.(Gln3148Glu)	NC_000008.10:g.48731966G>C	(Likely) benign	1 lab	bde166039b
9:137697010 COL5A1 G>A	9	137697010	137697010	G	A	COL5A1	c.3208G>A	NM_000093.4	NP_000084.3:p.(Ala1070Thr)	NC_000009.11:g.137697010G>A	VUS	1 lab	bde479916f
2:238277707 COL6A3 T>C	2	238277707	238277707	T	C	COL6A3	c.4399A>G	NM_004369.3	NP_004360.2:p.(Asn1467Asp)	NC_000002.11:g.238277707T>C	(Likely) benign	1 lab	bde5e13b70
14:99641540 BCL11B G>A	14	99641540	99641540	G	A	BCL11B	c.1633C>T	NM_138576.3	NP_612808.1:p.(Leu545=)	NC_000014.8:g.99641540G>A	(Likely) benign	1 lab	bded1511c0
20:61039959 GATA5 G>C	20	61039959	61039959	G	C	GATA5	c.1127C>G	NM_080473.4	NP_536721.1:p.(Pro376Arg)	NC_000020.10:g.61039959G>C	(Likely) benign	1 lab	bded6c6437
1:109456983 GPSM2 C>T	1	109456983	109456983	C	T	GPSM2	c.1216C>T	NM_013296.5	NP_037428.3:p.(Arg406Trp)	NC_000001.10:g.109456983C>T	(Likely) benign	1 lab	bdeef8ad06
17:42429375 GRN C>T	17	42429375	42429375	C	T	GRN	c.1180-8C>T	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42429375C>T	(Likely) benign	1 lab	bdef785cfa
8:41554216 ANK1 C>T	8	41554216	41554216	C	T	ANK1	c.2836G>A	NM_001142446.1	NP_001135918.1:p.(Val946Met)	NC_000008.10:g.41554216C>T	VUS	1 lab	bdeff9b0c5
16:31341430 ITGAM A>G	16	31341430	31341430	A	G	ITGAM	c.3008A>G	NM_001145808.1	NP_001139280.1:p.(Glu1003Gly)	NC_000016.9:g.31341430A>G	VUS	1 lab	bdf03e2645
4:994784 IDUA G>A	4	994784	994784	G	A	IDUA	c.97+7G>A	NM_001363576.1	NP_001350505.1:p.?	NC_000004.11:g.994784G>A	(Likely) benign	1 lab	bdf074595d
16:2126105 TSC2 CA>C	16	2126105	2126106	CA	C	TSC2	c.2677del	NM_000548.5	NP_000539.2:p.(Ile893Ter)	NC_000016.9:g.2126106del	(Likely) pathogenic	1 lab	bdf0cd732a
2:238434354 MLPH G>A	2	238434354	238434354	G	A	MLPH	c.786G>A	NM_024101.5	NP_077006.1:p.(Pro262=)	NC_000002.11:g.238434354G>A	(Likely) benign	1 lab	bdf0e2c9d9
2:15651428 NBAS T>C	2	15651428	15651428	T	C	NBAS	c.793A>G	NM_015909.3	NP_056993.2:p.(Lys265Glu)	NC_000002.11:g.15651428T>C	VUS	1 lab	bdf12fec0c
22:51063610 ARSA C>A	22	51063610	51063610	C	A	ARSA	c.1493G>T	NM_000487.5	NP_000478.3:p.(Arg498Leu)	NC_000022.10:g.51063610C>A	(Likely) benign	1 lab	bdf207f3d3
9:139325493 INPP5E C>T	9	139325493	139325493	C	T	INPP5E	c.1626G>A	NM_019892.5	NP_063945.2:p.(Thr542=)	NC_000009.11:g.139325493C>T	(Likely) benign	1 lab	bdf35c1652
15:30437737 GOLGA8T G>T	15	30437737	30437737	G	T	GOLGA8T	c.1863G>T	NM_001355469.1	NP_001342398.1:p.(Leu621Phe)	NC_000015.9:g.30437737G>T	VUS	1 lab	bdf3d1e061
22:51169344 MISSING C>T	22	51169344	51169344	C	T	MISSING				NC_000022.10:g.51169344C>T	(Likely) benign	1 lab	bdf3da43e7
1:197070707 ASPM G>T	1	197070707	197070707	G	T	ASPM	c.7674C>A	NM_018136.4	NP_060606.3:p.(Ile2558=)	NC_000001.10:g.197070707G>T	(Likely) benign	1 lab	bdf54d481b
2:73716898 ALMS1 C>G	2	73716898	73716898	C	G	ALMS1	c.7815C>G	NM_015120.4	NP_055935.4:p.(Phe2605Leu)	NC_000002.11:g.73716898C>G	(Likely) benign	1 lab	bdf5c31ea2
1:43907018 SZT2 C>T	1	43907018	43907018	C	T	SZT2	c.7478C>T	NM_001365999.1	NP_001352928.1:p.(Ala2493Val)	NC_000001.10:g.43907018C>T	(Likely) benign	1 lab	bdf629fed7
19:33904495 PEPD G>C	19	33904495	33904495	G	C	PEPD	c.726C>G	NM_000285.3	NP_000276.2:p.(Thr242=)	NC_000019.9:g.33904495G>C	(Likely) benign	1 lab	bdf93d3e60
5:140256693 PCDHA12 G>A	5	140256693	140256693	G	A	PCDHA12	c.1636G>A	NM_018903.4	NP_061726.1:p.(Gly546Ser)	NC_000005.9:g.140256693G>A	(Likely) benign	1 lab	bdfa5fc24f
15:43044193 TTBK2 G>A	15	43044193	43044193	G	A	TTBK2	c.3251C>T	NM_173500.3	NP_775771.3:p.(Thr1084Met)	NC_000015.9:g.43044193G>A	(Likely) benign	1 lab	bdfaf19c23
X:151935666 MAGEA3 C>T	X	151935666	151935666	C	T	MAGEA3	c.501G>A	NM_005362.3	NP_005353.1:p.(Met167Ile)	NC_000023.10:g.151935666C>T	(Likely) benign	1 lab	bdfed266bc
1:214814694 CENPF G>C	1	214814694	214814694	G	C	CENPF	c.3013G>C	NM_016343.3	NP_057427.3:p.(Asp1005His)	NC_000001.10:g.214814694G>C	(Likely) benign	1 lab	be0050a8a7
2:209204243 PIKFYVE G>A	2	209204243	209204243	G	A	PIKFYVE	c.4774G>A	NM_015040.3	NP_055855.2:p.(Gly1592Arg)	NC_000002.11:g.209204243G>A	VUS	1 lab	be03e6be2c
14:51062341 ATL1 G>A	14	51062341	51062341	G	A	ATL1	c.621G>A	NM_001127713.1	NP_001121185.1:p.(Lys207=)	NC_000014.8:g.51062341G>A	(Likely) benign	1 lab	be05654ce7
11:47433973 SLC39A13 G>T	11	47433973	47433973	G	T	SLC39A13	c.492G>T	NM_001128225.2	NP_001121697.1:p.(Ala164=)	NC_000011.9:g.47433973G>T	(Likely) benign	1 lab	be057bd46a
6:152804266 SYNE1 T>C	6	152804266	152804266	T	C	SYNE1	c.1304A>G	NM_182961.3	NP_892006.3:p.(His435Arg)	NC_000006.11:g.152804266T>C	VUS	1 lab	be05e3715e
12:39752157 KIF21A T>C	12	39752157	39752157	T	C	KIF21A	c.1038A>G	NM_001173464.1	NP_001166935.1:p.(Ala346=)	NC_000012.11:g.39752157T>C	(Likely) benign	1 lab	be0a48356f
17:15930765 TTC19 C>T	17	15930765	15930765	C	T	TTC19	c.751C>T	NM_001271420.1	NP_001258349.1:p.(Gln251Ter)	NC_000017.10:g.15930765C>T	VUS	1 lab	be0cc89af4
22:42043096 XRCC6 G>A	22	42043096	42043096	G	A	XRCC6	c.960+10G>A	NM_001469.4	NP_001460.1:p.?	NC_000022.10:g.42043096G>A	(Likely) benign	1 lab	be0d06c2b4
16:3779183 CREBBP C>T	16	3779183	3779183	C	T	CREBBP	c.5865G>A	NM_004380.2	NP_004371.2:p.(Ala1955=)	NC_000016.9:g.3779183C>T	(Likely) benign	1 lab	be0e7ca58b
21:46908328 COL18A1 ACAGGGACCTCCCGGCCTGCCG>A	21	46908328	46908349	ACAGGGACCTCCCGGCCTGCCG	A	COL18A1	c.1897-3_1914del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46908329_46908349del	(Likely) pathogenic	1 lab	be0f64db64
2:230634044 TRIP12 G>A	2	230634044	230634044	G	A	TRIP12	c.5809-3C>T	NM_001348322.1	NP_001335251.1:p.?	NC_000002.11:g.230634044G>A	(Likely) benign	1 lab	be10a3ee59
16:2126140 TSC2 TC>T	16	2126140	2126142	TC	T	TSC2	c.2713del	NM_000548.5	NP_000539.2:p.(Arg905GlyfsTer43)	NC_000016.9:g.2126142del	(Likely) pathogenic	1 lab	be17477833
13:39266624 FREM2 G>A	13	39266624	39266624	G	A	FREM2	c.5143G>A	NM_207361.5	NP_997244.4:p.(Gly1715Ser)	NC_000013.10:g.39266624G>A	VUS	1 lab	be17496597
2:54851989 SPTBN1 C>T	2	54851989	54851989	C	T	SPTBN1	c.1231C>T	NM_003128.2	NP_003119.2:p.(Arg411Trp)	NC_000002.11:g.54851989C>T	VUS	1 lab	be17c79f83
7:98990333 ARPC1B G>A	7	98990333	98990333	G	A	ARPC1B	c.823G>A	NM_005720.4	NP_005711.1:p.(Ala275Thr)	NC_000007.13:g.98990333G>A	(Likely) benign	1 lab	be1a515619
X:153736646 FAM3A C>T	X	153736646	153736646	C	T	FAM3A	c.350G>A	NM_001282311.1	NP_001269240.1:p.(Arg117His)	NC_000023.10:g.153736646C>T	VUS	1 lab	be1b03484a
19:9068077 MUC16 G>A	19	9068077	9068077	G	A	MUC16	c.19369C>T	NM_024690.2	NP_078966.2:p.(Gln6457Ter)	NC_000019.9:g.9068077G>A	VUS	1 lab	be1b1c4849
1:68897203 RPE65 G>A	1	68897203	68897203	G	A	RPE65	c.1194C>T	NM_000329.2	NP_000320.1:p.(Asp398=)	NC_000001.10:g.68897203G>A	(Likely) benign	1 lab	be1b26b52f
18:56936410 RAX C>A	18	56936410	56936410	C	A	RAX	c.867G>T	NM_013435.2	NP_038463.2:p.(Leu289Phe)	NC_000018.9:g.56936410C>A	VUS	1 lab	be1ba0342a
3:132242480 DNAJC13 G>C	3	132242480	132242480	G	C	DNAJC13	c.5998G>C	NM_001329126.1	NP_001316055.1:p.(Val2000Leu)	NC_000003.11:g.132242480G>C	VUS	1 lab	be1be1e761
3:98309944 CPOX C>T	3	98309944	98309944	C	T	CPOX	c.612G>A	NM_000097.7	NP_000088.3:p.(Gly204=)	NC_000003.11:g.98309944C>T	(Likely) benign	1 lab	be1c68f7a5
14:23887557 MYH7 C>T	14	23887557	23887557	C	T	MYH7	c.4031G>A	NM_000257.2	NP_000248.2:p.(Arg1344Gln)	NC_000014.8:g.23887557C>T	(Likely) pathogenic	1 lab	be1e4cc0e2
2:29451675 ALK A>AGGGCG	2	29451675	29451680	A	AGGGCG	ALK	c.2815+74_2815+75insCGCCC	NM_004304.3	NP_004295.2:p.?	NC_000002.11:g.29451679_29451680insGGGGC	(Likely) benign	1 lab	be21bc9f05
1:44386113 ST3GAL3 G>A	1	44386113	44386113	G	A	ST3GAL3	c.503G>A	NM_001350621.1	NP_001337550.1:p.(Arg168Gln)	NC_000001.10:g.44386113G>A	VUS	1 lab	be223f06f2
9:139568327 AGPAT2 C>T	9	139568327	139568327	C	T	AGPAT2	c.714G>A	NM_006412.3	NP_006403.2:p.(Ala238=)	NC_000009.11:g.139568327C>T	VUS	1 lab	be24d5a0de
X:153997558 DKC1 T>C	X	153997558	153997558	T	C	DKC1	c.888T>C	NM_001363.3	NP_001354.1:p.(His296=)	NC_000023.10:g.153997558T>C	(Likely) benign	1 lab	be25e60b4a
X:154722082 TMLHE C>T	X	154722082	154722082	C	T	TMLHE	c.1070G>A	NM_018196.3	NP_060666.1:p.(Arg357Gln)	NC_000023.10:g.154722082C>T	VUS	1 lab	be28cb4ffa
3:142281500 ATR T>G	3	142281500	142281500	T	G	ATR	c.744A>C	NM_001184.3	NP_001175.2:p.(Ala248=)	NC_000003.11:g.142281500T>G	(Likely) benign	1 lab	be298b9f8b
10:73492011 CDH23 T>C	10	73492011	73492011	T	C	CDH23	c.3983T>C	NM_022124.5	NP_071407.4:p.(Leu1328Pro)	NC_000010.10:g.73492011T>C	VUS	1 lab	be29f45d05
22:51117861 MISSING G>T	22	51117861	51117861	G	T	MISSING				NC_000022.10:g.51117861G>T	VUS	1 lab	be2a0054f7
1:158619724 SPTA1 C>T	1	158619724	158619724	C	T	SPTA1	c.3491G>A	NM_003126.3	NP_003117.2:p.(Arg1164His)	NC_000001.10:g.158619724C>T	VUS	1 lab	be2b43efda
11:1254388 MUC5B C>T	11	1254388	1254388	C	T	MUC5B	c.2211C>T	NM_002458.2	NP_002449.2:p.(Gly737=)	NC_000011.9:g.1254388C>T	(Likely) benign	1 lab	be2c63c8ad
15:91304070 BLM G>A	15	91304070	91304070	G	A	BLM	c.342G>A	NM_001287248.1	NP_001274177.1:p.(Arg114=)	NC_000015.9:g.91304070G>A	(Likely) benign	1 lab	be2c69e374
X:96167393 DIAPH2 C>CA	X	96167393	96167399	C	CA	DIAPH2	c.660dup	NM_006729.4	NP_006720.1:p.(Gln221ThrfsTer6)	NC_000023.10:g.96167399dup	VUS	1 lab	be2eaeb746
2:216242976 FN1 T>G	2	216242976	216242976	T	G	FN1	c.5632A>C	NM_212482.2	NP_997647.1:p.(Lys1878Gln)	NC_000002.11:g.216242976T>G	VUS	1 lab	be2eea374b
3:124175532 KALRN C>T	3	124175532	124175532	C	T	KALRN	c.3805C>T	NM_001024660.4	NP_001019831.2:p.(His1269Tyr)	NC_000003.11:g.124175532C>T	VUS	1 lab	be2f9ec9ec
5:41186186 C6 T>G	5	41186186	41186186	T	G	C6	c.712A>C	NM_001115131.2	NP_001108603.2:p.(Asn238His)	NC_000005.9:g.41186186T>G	(Likely) benign	1 lab	be2fc5aa61
X:53652203 HUWE1 T>C	X	53652203	53652203	T	C	HUWE1	c.1506A>G	NM_031407.6	NP_113584.3:p.(Pro502=)	NC_000023.10:g.53652203T>C	(Likely) benign	1 lab	be30641e89
3:46009763 FYCO1 G>A	3	46009763	46009763	G	A	FYCO1	c.1063C>T	NM_024513.3	NP_078789.2:p.(Arg355Trp)	NC_000003.11:g.46009763G>A	(Likely) benign	1 lab	be326849c7
7:31890255 PDE1C C>T	7	31890255	31890255	C	T	PDE1C	c.1031G>A	NM_001322058.1	NP_001308987.1:p.(Arg344Gln)	NC_000007.13:g.31890255C>T	VUS	1 lab	be32725090
3:195516242 MUC4 C>T	3	195516242	195516242	C	T	MUC4	c.2209G>A	NM_018406.6	NP_060876.5:p.(Ala737Thr)	NC_000003.11:g.195516242C>T	VUS	1 lab	be32f994d0
6:128294289 PTPRK G>T	6	128294289	128294289	G	T	PTPRK	c.4213C>A	NM_001291981.1	NP_001278910.1:p.(Arg1405=)	NC_000006.11:g.128294289G>T	(Likely) benign	1 lab	be334b047f
17:78164572 CARD14 G>A	17	78164572	78164572	G	A	CARD14	c.964-1G>A	NM_001366385.1	NP_001353314.1:p.?	NC_000017.10:g.78164572G>A	(Likely) pathogenic	1 lab	be34670537
2:25972800 ASXL2 G>C	2	25972800	25972800	G	C	ASXL2	c.1625C>G	NM_018263.5	NP_060733.4:p.(Ala542Gly)	NC_000002.11:g.25972800G>C	(Likely) benign	1 lab	be3692a2d1
9:71650753 FXN G>C	9	71650753	71650753	G	C	FXN	c.55G>C	NM_000144.4	NP_000135.2:p.(Ala19Pro)	NC_000009.11:g.71650753G>C	(Likely) benign	1 lab	be369f90ce
17:76523070 DNAH17 C>T	17	76523070	76523070	C	T	DNAH17	c.3516G>A	NM_173628.3	NP_775899.3:p.(Pro1172=)	NC_000017.10:g.76523070C>T	(Likely) benign	1 lab	be3785d863
12:7842966 GDF3 G>A	12	7842966	7842966	G	A	GDF3	c.603C>T	NM_020634.2	NP_065685.1:p.(Phe201=)	NC_000012.11:g.7842966G>A	(Likely) benign	1 lab	be3ad34b52
11:70049627 FADD C>T	11	70049627	70049627	C	T	FADD	c.62C>T	NM_003824.3	NP_003815.1:p.(Thr21Ile)	NC_000011.9:g.70049627C>T	(Likely) benign	1 lab	be3b0989aa
4:13370254 RAB28 A>C	4	13370254	13370254	A	C	RAB28	c.594T>G	NM_001017979.2	NP_001017979.1:p.(Ile198Met)	NC_000004.11:g.13370254A>C	VUS	1 lab	be3b771d09
5:13692191 DNAH5 T>A	5	13692191	13692191	T	A	DNAH5	c.13777A>T	NM_001369.2	NP_001360.1:p.(Thr4593Ser)	NC_000005.9:g.13692191T>A	VUS	1 lab	be3c315847
12:94634306 PLXNC1 T>G	12	94634306	94634306	T	G	PLXNC1	c.2166T>G	NM_005761.2	NP_005752.1:p.(Ser722=)	NC_000012.11:g.94634306T>G	(Likely) benign	1 lab	be3cd78107
15:91825010 SV2B G>A	15	91825010	91825010	G	A	SV2B	c.1426G>A	NM_014848.6	NP_055663.1:p.(Glu476Lys)	NC_000015.9:g.91825010G>A	(Likely) benign	1 lab	be3ea48d00
15:38808559 RASGRP1 G>C	15	38808559	38808559	G	C	RASGRP1	c.522-8C>G	NM_005739.3	NP_005730.2:p.?	NC_000015.9:g.38808559G>C	(Likely) benign	1 lab	be3fbed201
1:228492990 OBSCN A>C	1	228492990	228492990	A	C	OBSCN	c.14433A>C	NM_001271223.2	NP_001258152.2:p.(Arg4811Ser)	NC_000001.10:g.228492990A>C	VUS	1 lab	be3fd67580
X:39934317 BCOR A>G	X	39934317	39934317	A	G	BCOR	c.282T>C	NM_001123385.1	NP_001116857.1:p.(Cys94=)	NC_000023.10:g.39934317A>G	(Likely) benign	1 lab	be40c6b7eb
X:50378348 SHROOM4 C>T	X	50378348	50378348	C	T	SHROOM4	c.725G>A	NM_020717.3	NP_065768.2:p.(Arg242His)	NC_000023.10:g.50378348C>T	(Likely) benign	1 lab	be41be61dc
2:216245577 FN1 G>A	2	216245577	216245577	G	A	FN1	c.5391C>T	NM_212482.2	NP_997647.1:p.(His1797=)	NC_000002.11:g.216245577G>A	(Likely) benign	1 lab	be43efec6e
3:52441269 BAP1 C>T	3	52441269	52441269	C	T	BAP1	c.501G>A	NM_004656.2	NP_004647.1:p.(Ala167=)	NC_000003.11:g.52441269C>T	(Likely) benign	1 lab	be45e4f44c
X:107844646 COL4A5 A>C	X	107844646	107844646	A	C	COL4A5	c.1972A>C	NM_033380.2	NP_203699.1:p.(Thr658Pro)	NC_000023.10:g.107844646A>C	VUS	1 lab	be46883b68
17:10429177 MYH2 G>A	17	10429177	10429177	G	A	MYH2	c.4204C>T	NM_001100112.1	NP_001093582.1:p.(Arg1402Trp)	NC_000017.10:g.10429177G>A	VUS	1 lab	be48a33eb3
3:170875423 TNIK C>T	3	170875423	170875423	C	T	TNIK	c.1047G>A	NM_015028.3	NP_055843.1:p.(Thr349=)	NC_000003.11:g.170875423C>T	(Likely) benign	1 lab	be48a55d92
4:995920 IDUA G>T	4	995920	995920	G	T	IDUA	c.943G>T	NM_000203.5	NP_000194.2:p.(Asp315Tyr)	NC_000004.11:g.995920G>T	(Likely) pathogenic	1 lab	be48dd2e9c
8:106814811 ZFPM2 A>G	8	106814811	106814811	A	G	ZFPM2	c.2105A>G	NM_001362837.1	NP_001349766.1:p.(Lys702Arg)	NC_000008.10:g.106814811A>G	VUS	1 lab	be48ddd6cf
11:88070819 CTSC G>A	11	88070819	88070819	G	A	CTSC	c.22C>T	NM_148170.4	NP_680475.1:p.(Leu8=)	NC_000011.9:g.88070819G>A	(Likely) benign	1 lab	be4a3663e4
8:61655235 CHD7 C>CG	8	61655235	61655238	C	CG	CHD7	c.1247dup	NM_017780.2	NP_060250.2:p.(Ser417LysfsTer158)	NC_000008.10:g.61655238dup	(Likely) pathogenic	1 lab	be52746c77
X:100382200 CENPI C>G	X	100382200	100382200	C	G	CENPI	c.851C>G	NM_006733.3	NP_006724.2:p.(Ser284Cys)	NC_000023.10:g.100382200C>G	(Likely) benign	1 lab	be4b1dddb4
1:147380199 GJA8 G>A	1	147380199	147380199	G	A	GJA8	c.117G>A	NM_005267.4	NP_005258.2:p.(Thr39=)	NC_000001.10:g.147380199G>A	(Likely) benign	1 lab	be4b1f9392
1:45974012 MMACHC G>A	1	45974012	45974012	G	A	MMACHC	c.234G>A	NM_001330540.1	NP_001317469.1:p.(Val78=)	NC_000001.10:g.45974012G>A	(Likely) benign	1 lab	be4b5155f4
X:2861167 ARSL G>A	X	2861167	2861167	G	A	ARSL	c.1140C>T	NM_001282628.1	NP_001269557.1:p.(Gly380=)	NC_000023.10:g.2861167G>A	(Likely) benign	1 lab	be4c115e79
1:152275263 FLG A>T	1	152275263	152275263	A	T	FLG	c.12099T>A	NM_002016.1	NP_002007.1:p.(Asn4033Lys)	NC_000001.10:g.152275263A>T	VUS	1 lab	be4e5aafe9
13:86369381 SLITRK6 G>A	13	86369381	86369381	G	A	SLITRK6	c.1263C>T	NM_032229.3	NP_115605.2:p.(Asn421=)	NC_000013.10:g.86369381G>A	(Likely) benign	1 lab	be500d754f
16:2345616 ABCA3 T>G	16	2345616	2345616	T	G	ABCA3	c.2389A>C	NM_001089.2	NP_001080.2:p.(Ile797Leu)	NC_000016.9:g.2345616T>G	VUS	1 lab	be508e95c6
15:91333953 BLM C>G	15	91333953	91333953	C	G	BLM	c.1773C>G	NM_001287248.1	NP_001274177.1:p.(Leu591=)	NC_000015.9:g.91333953C>G	(Likely) benign	1 lab	be50eeab47
3:43641977 ANO10 A>C	3	43641977	43641977	A	C	ANO10	c.236T>G	NM_001204831.2	NP_001191760.1:p.(Met79Arg)	NC_000003.11:g.43641977A>C	VUS	1 lab	be5325e4f2
2:1658234 PXDN G>A	2	1658234	1658234	G	A	PXDN	c.1884C>T	NM_012293.2	NP_036425.1:p.(Ile628=)	NC_000002.11:g.1658234G>A	(Likely) benign	1 lab	be539d26a0
8:145641389 SLC39A4 G>A	8	145641389	145641389	G	A	SLC39A4	c.204C>T	NM_017767.2	NP_060237.2:p.(Val68=)	NC_000008.10:g.145641389G>A	(Likely) benign	1 lab	be548536cc
7:21939017 DNAH11 G>C	7	21939017	21939017	G	C	DNAH11				NC_000007.13:g.21939017G>C	(Likely) benign	1 lab	be56fa4701
17:29556992 NF1 G>GGT	17	29556992	29556994	G	GGT	NF1	c.2990_2990+1insGT	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556993_29556994dup	(Likely) pathogenic	1 lab	be58a1a447
3:191093068 CCDC50 G>T	3	191093068	191093068	G	T	CCDC50	c.666G>T	NM_178335.2	NP_848018.1:p.(Gln222His)	NC_000003.11:g.191093068G>T	(Likely) benign	1 lab	be593baae9
X:48887958 TFE3 C>G	X	48887958	48887958	C	G	TFE3	c.1439G>C	NM_006521.5	NP_006512.2:p.(Gly480Ala)	NC_000023.10:g.48887958C>G	(Likely) benign	1 lab	be59b4710a
7:39990519 CDK13 G>A	7	39990519	39990519	G	A	CDK13	c.279G>A	NM_003718.4	NP_003709.3:p.(Ala93=)	NC_000007.13:g.39990519G>A	(Likely) benign	1 lab	be59dae919
18:56002732 NEDD4L C>T	18	56002732	56002732	C	T	NEDD4L	c.1088C>T	NM_001144967.2	NP_001138439.1:p.(Ala363Val)	NC_000018.9:g.56002732C>T	(Likely) benign	1 lab	be5cee6b41
10:85956392 CDHR1 G>A	10	85956392	85956392	G	A	CDHR1	c.283G>A	NM_033100.4	NP_149091.1:p.(Glu95Lys)	NC_000010.10:g.85956392G>A	VUS	1 lab	be5d33cc59
16:2550955 TBC1D24 A>G	16	2550955	2550955	A	G	TBC1D24	c.1676A>G	NM_001199107.1	NP_001186036.1:p.(Gln559Arg)	NC_000016.9:g.2550955A>G	(Likely) benign	1 lab	be606470b1
X:48762245 SLC35A2 C>A	X	48762245	48762245	C	A	SLC35A2	c.1025G>T	NM_001282651.1	NP_001269580.1:p.(Arg342Leu)	NC_000023.10:g.48762245C>A	VUS	1 lab	be60cc14de
2:15358984 NBAS T>C	2	15358984	15358984	T	C	NBAS	c.6345A>G	NM_015909.3	NP_056993.2:p.(Gln2115=)	NC_000002.11:g.15358984T>C	(Likely) benign	1 lab	be62b01aed
X:68749609 NALF2 G>A	X	68749609	68749609	G	A	NALF2	c.1229G>A	NM_015686.2	NP_056501.2:p.(Arg410His)	NC_000023.10:g.68749609G>A	(Likely) benign	1 lab	be63ab51f6
15:51507312 CYP19A1 G>A	15	51507312	51507312	G	A	CYP19A1	c.976C>T	NM_001347249.1	NP_001334178.1:p.(Pro326Ser)	NC_000015.9:g.51507312G>A	(Likely) benign	1 lab	be649be1aa
12:7045417 ATN1 G>A	12	7045417	7045417	G	A	ATN1	c.987G>A	NM_001940.4	NP_001931.2:p.(Leu329=)	NC_000012.11:g.7045417G>A	(Likely) benign	1 lab	be669c5630
22:38111810 TRIOBP G>C	22	38111810	38111810	G	C	TRIOBP	c.497G>C	NM_001039141.2	NP_001034230.1:p.(Ser166Thr)	NC_000022.10:g.38111810G>C	(Likely) benign	1 lab	be6b2a52fc
13:110830305 COL4A1 C>T	13	110830305	110830305	C	T	COL4A1	c.2627-27G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110830305C>T	(Likely) benign	1 lab	be6b637df4
X:71360170 NHSL2 G>A	X	71360170	71360170	G	A	NHSL2	c.2772G>A	NM_001013627.2	NP_001013649.2:p.(Val924=)	NC_000023.10:g.71360170G>A	(Likely) benign	1 lab	be6b73b125
19:50827126 KCNC3 C>T	19	50827126	50827126	C	T	KCNC3	c.1084G>A	NM_004977.2	NP_004968.2:p.(Glu362Lys)	NC_000019.9:g.50827126C>T	VUS	1 lab	be6bdf6bbf
8:10468554 RP1L1 G>A	8	10468554	10468554	G	A	RP1L1	c.3054C>T	NM_178857.5	NP_849188.4:p.(Pro1018=)	NC_000008.10:g.10468554G>A	(Likely) benign	1 lab	be6dc119d6
14:105407644 AHNAK2 T>C	14	105407644	105407644	T	C	AHNAK2	c.14144A>G	NM_138420.3	NP_612429.2:p.(Lys4715Arg)	NC_000014.8:g.105407644T>C	VUS	1 lab	be7145020c
2:242707293 D2HGDH C>T	2	242707293	242707293	C	T	D2HGDH	c.1475C>T	NM_152783.4	NP_689996.4:p.(Pro492Leu)	NC_000002.11:g.242707293C>T	VUS	1 lab	be72080032
2:44223013 LRPPRC C>T	2	44223013	44223013	C	T	LRPPRC	c.74G>A	NM_133259.3	NP_573566.2:p.(Arg25His)	NC_000002.11:g.44223013C>T	VUS	1 lab	be746c6d8e
7:44146158 AEBP1 G>C	7	44146158	44146158	G	C	AEBP1	c.267G>C	NM_001129.4	NP_001120.3:p.(Lys89Asn)	NC_000007.13:g.44146158G>C	VUS	1 lab	be74789a5c
4:183601448 TENM3 G>A	4	183601448	183601448	G	A	TENM3	c.1585G>A	NM_001080477.3	NP_001073946.1:p.(Val529Ile)	NC_000004.11:g.183601448G>A	VUS	1 lab	be7679b865
6:129663524 LAMA2 C>T	6	129663524	129663524	C	T	LAMA2	c.4348C>T	NM_000426.3	NP_000417.2:p.(Arg1450Ter)	NC_000006.11:g.129663524C>T	(Likely) pathogenic	1 lab	be76ff979a
3:48505204 ATRIP C>T	3	48505204	48505204	C	T	ATRIP	c.1806C>T	NM_130384.3	NP_569055.1:p.(Ser602=)	NC_000003.11:g.48505204C>T	(Likely) benign	1 lab	be781c3639
7:116955334 WNT2 A>C	7	116955334	116955334	A	C	WNT2	c.379T>G	NM_003391.2	NP_003382.1:p.(Cys127Gly)	NC_000007.13:g.116955334A>C	VUS	1 lab	be78c5a48a
12:32883961 DNM1L A>G	12	32883961	32883961	A	G	DNM1L	c.1132A>G	NM_001278464.1	NP_001265393.1:p.(Arg378Gly)	NC_000012.11:g.32883961A>G	VUS	1 lab	be78c71516
19:54627936 PRPF31 C>T	19	54627936	54627936	C	T	PRPF31	c.756C>T	NM_015629.3	NP_056444.3:p.(Leu252=)	NC_000019.9:g.54627936C>T	(Likely) benign	1 lab	be7b59e057
13:32921014 BRCA2 A>G	13	32921014	32921014	A	G	BRCA2	c.6988A>G	NM_000059.3	NP_000050.2:p.(Ile2330Val)	NC_000013.10:g.32921014A>G	(Likely) benign	1 lab	be7e1ae60c
5:150945553 FAT2 C>G	5	150945553	150945553	C	G	FAT2	c.2940G>C	NM_001447.2	NP_001438.1:p.(Ala980=)	NC_000005.9:g.150945553C>G	(Likely) benign	1 lab	be7e4b8209
8:145739904 RECQL4 A>G	8	145739904	145739904	A	G	RECQL4	c.1626T>C	NM_004260.3	NP_004251.3:p.(Ser542=)	NC_000008.10:g.145739904A>G	(Likely) benign	1 lab	be7e97fec5
6:146480590 GRM1 C>A	6	146480590	146480590	C	A	GRM1	c.807C>A	NM_001278065.1	NP_001264994.1:p.(Ser269Arg)	NC_000006.11:g.146480590C>A	VUS	1 lab	be800b0f5c
2:238283288 COL6A3 C>T	2	238283288	238283288	C	T	COL6A3	c.3446G>A	NM_004369.3	NP_004360.2:p.(Arg1149Gln)	NC_000002.11:g.238283288C>T	(Likely) benign	1 lab	be80a1a698
12:109684134 ACACB C>T	12	109684134	109684134	C	T	ACACB	c.5452C>T	NM_001093.3	NP_001084.3:p.(Arg1818Trp)	NC_000012.11:g.109684134C>T	VUS	1 lab	be82b1a167
11:120345265 ARHGEF12 C>G	11	120345265	120345265	C	G	ARHGEF12	c.3034-4C>G	NM_015313.2	NP_056128.1:p.?	NC_000011.9:g.120345265C>G	(Likely) benign	1 lab	be8428a07e
5:150924851 FAT2 C>T	5	150924851	150924851	C	T	FAT2	c.5837G>A	NM_001447.2	NP_001438.1:p.(Gly1946Asp)	NC_000005.9:g.150924851C>T	VUS	1 lab	be87cbbcd3
3:142268513 ATR C>T	3	142268513	142268513	C	T	ATR	c.2979G>A	NM_001184.3	NP_001175.2:p.(Arg993=)	NC_000003.11:g.142268513C>T	(Likely) benign	1 lab	be87e3e858
19:9027221 MUC16 G>A	19	9027221	9027221	G	A	MUC16	c.36665C>T	NM_024690.2	NP_078966.2:p.(Pro12222Leu)	NC_000019.9:g.9027221G>A	(Likely) benign	1 lab	be87e7873d
6:56357741 DST G>A	6	56357741	56357741	G	A	DST	c.14184C>T	NM_001144769.2	NP_001138241.1:p.(Asp4728=)	NC_000006.11:g.56357741G>A	(Likely) benign	1 lab	be881a850c
16:4944524 PPL C>T	16	4944524	4944524	C	T	PPL	c.1338G>A	NM_002705.5	NP_002696.4:p.(Pro446=)	NC_000016.9:g.4944524C>T	(Likely) benign	1 lab	be8996c302
12:80704413 OTOGL T>C	12	80704413	80704413	T	C	OTOGL	c.3329T>C	NM_173591.3	NP_775862.3:p.(Ile1110Thr)	NC_000012.11:g.80704413T>C	(Likely) benign	1 lab	be89a3fa89
X:96204010 DIAPH2 A>C	X	96204010	96204010	A	C	DIAPH2	c.1586A>C	NM_006729.4	NP_006720.1:p.(Glu529Ala)	NC_000023.10:g.96204010A>C	VUS	1 lab	be8d99dcc1
X:101971255 ARMCX5-GPRASP2 C>T	X	101971255	101971255	C	T	ARMCX5-GPRASP2	c.1458C>T	NM_001199818.1	NP_001186747.1:p.(Ser486=)	NC_000023.10:g.101971255C>T	(Likely) benign	1 lab	be8dd7ced9
5:149748434 TCOF1 C>T	5	149748434	149748434	C	T	TCOF1	c.534C>T	NM_001135243.1	NP_001128715.1:p.(Ser178=)	NC_000005.9:g.149748434C>T	(Likely) benign	1 lab	be8f51eb7a
20:62197496 HELZ2 G>A	20	62197496	62197496	G	A	HELZ2	c.2679C>T	NM_001037335.2	NP_001032412.2:p.(Thr893=)	NC_000020.10:g.62197496G>A	(Likely) benign	1 lab	be8ffbb3f9
11:117246435 CEP164 T>C	11	117246435	117246435	T	C	CEP164	c.1245T>C	NM_014956.4	NP_055771.4:p.(Phe415=)	NC_000011.9:g.117246435T>C	(Likely) benign	1 lab	be9150b2ed
10:67680372 CTNNA3 C>A	10	67680372	67680372	C	A	CTNNA3	c.2404G>T	NM_013266.3	NP_037398.2:p.(Asp802Tyr)	NC_000010.10:g.67680372C>A	VUS	1 lab	be9384b4ca
15:40698489 IVD T>C	15	40698489	40698489	T	C	IVD	c.34T>C	NM_001354597.2	NP_001341526.1:p.(Tyr12His)	NC_000015.9:g.40698489T>C	VUS	1 lab	be946944ff
17:2583590 PAFAH1B1 C>A	17	2583590	2583590	C	A	PAFAH1B1	c.1135C>A	NM_000430.3	NP_000421.1:p.(His379Asn)	NC_000017.10:g.2583590C>A	VUS	1 lab	be956746f4
2:170025095 LRP2 G>A	2	170025095	170025095	G	A	LRP2	c.11589C>T	NM_004525.3	NP_004516.2:p.(Gly3863=)	NC_000002.11:g.170025095G>A	(Likely) benign	1 lab	be9831909e
12:124107304 EIF2B1 C>A	12	124107304	124107304	C	A	EIF2B1	c.632G>T	NM_001414.3	NP_001405.1:p.(Gly211Val)	NC_000012.11:g.124107304C>A	VUS	1 lab	be9c71e094
15:101447385 ALDH1A3 A>G	15	101447385	101447385	A	G	ALDH1A3	c.1293A>G	NM_000693.3	NP_000684.2:p.(Arg431=)	NC_000015.9:g.101447385A>G	(Likely) benign	1 lab	be9e562186
1:94668295 ARHGAP29 C>T	1	94668295	94668295	C	T	ARHGAP29	c.955-7G>A	NM_004815.4	NP_004806.3:p.?	NC_000001.10:g.94668295C>T	VUS	1 lab	00b28c7dfb
X:65819549 EDA2R G>A	X	65819549	65819549	G	A	EDA2R	c.677C>T	NM_001324206.1	NP_001311135.1:p.(Ser226Leu)	NC_000023.10:g.65819549G>A	(Likely) benign	1 lab	bea0493d00
14:51058285 ATL1 C>A	14	51058285	51058285	C	A	ATL1	c.450C>A	NM_001127713.1	NP_001121185.1:p.(Thr150=)	NC_000014.8:g.51058285C>A	(Likely) benign	1 lab	bea207bc90
7:102106671 LRWD1 C>T	7	102106671	102106671	C	T	LRWD1	c.386C>T	NM_152892.3	NP_690852.1:p.(Ser129Leu)	NC_000007.13:g.102106671C>T	VUS	1 lab	bea38d7980
15:101440933 ALDH1A3 C>T	15	101440933	101440933	C	T	ALDH1A3	c.1037C>T	NM_000693.3	NP_000684.2:p.(Pro346Leu)	NC_000015.9:g.101440933C>T	VUS	1 lab	bea3ea8910
19:9020823 MUC16 T>C	19	9020823	9020823	T	C	MUC16	c.37279A>G	NM_024690.2	NP_078966.2:p.(Ile12427Val)	NC_000019.9:g.9020823T>C	(Likely) benign	1 lab	bea51bc53c
2:233612356 GIGYF2 A>G	2	233612356	233612356	A	G	GIGYF2	c.73A>G	NM_015575.3	NP_056390.2:p.(Thr25Ala)	NC_000002.11:g.233612356A>G	(Likely) benign	1 lab	bea534d440
7:147869455 CNTNAP2 C>A	7	147869455	147869455	C	A	CNTNAP2	c.2895C>A	NM_014141.5	NP_054860.1:p.(Gly965=)	NC_000007.13:g.147869455C>A	(Likely) benign	1 lab	bea5f75b5b
1:20964449 PINK1 G>C	1	20964449	20964449	G	C	PINK1	c.502G>C	NM_032409.2	NP_115785.1:p.(Ala168Pro)	NC_000001.10:g.20964449G>C	(Likely) pathogenic	1 lab	bea8e61729
5:37201753 CPLANE1 T>C	5	37201753	37201753	T	C	CPLANE1	c.3447A>G	NM_023073.3	NP_075561.3:p.(Pro1149=)	NC_000005.9:g.37201753T>C	(Likely) benign	1 lab	beaa0e8b94
1:17316239 ATP13A2 G>A	1	17316239	17316239	G	A	ATP13A2	c.2541C>T	NM_001141973.2	NP_001135445.1:p.(Ala847=)	NC_000001.10:g.17316239G>A	(Likely) benign	1 lab	beabf7c95f
11:61719295 BEST1 C>G	11	61719295	61719295	C	G	BEST1	c.17C>G	NM_004183.3	NP_004174.1:p.(Thr6Arg)	NC_000011.9:g.61719295C>G	(Likely) pathogenic	1 lab	bead4e2628
9:135939787 CEL G>A	9	135939787	135939787	G	A	CEL	c.76-4G>A	NM_001807.4	NP_001798.2:p.?	NC_000009.11:g.135939787G>A	(Likely) benign	1 lab	beadaa5e94
16:427458 PGAP6 C>T	16	427458	427458	C	T	PGAP6	c.427G>A	NM_021259.3	NP_067082.2:p.(Val143Ile)	NC_000016.9:g.427458C>T	(Likely) benign	1 lab	beaf0846ac
16:21210161 ZP2 C>T	16	21210161	21210161	C	T	ZP2	c.1950G>A	NM_003460.2	NP_003451.1:p.(Glu650=)	NC_000016.9:g.21210161C>T	(Likely) benign	1 lab	beaf465000
15:90176081 KIF7 C>A	15	90176081	90176081	C	A	KIF7	c.2865G>T	NM_198525.2	NP_940927.2:p.(Gly955=)	NC_000015.9:g.90176081C>A	(Likely) benign	1 lab	beb22a2308
16:2112465 TSC2 G>GC	16	2112465	2112466	G	GC	TSC2	c.1258-32dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112466dup	(Likely) benign	1 lab	df8b3236ef
1:43907737 SZT2 A>C	1	43907737	43907737	A	C	SZT2	c.7638A>C	NM_015284.3	NP_056099.3:p.(Ala2546=)	NC_000001.10:g.43907737A>C	(Likely) benign	1 lab	beb264bf6c
9:135797303 TSC1 T>G	9	135797303	135797303	T	G	TSC1	c.566A>C	NM_000368.4	NP_000359.1:p.(His189Pro)	NC_000009.11:g.135797303T>G	(Likely) pathogenic	1 lab	beb31a6bad
1:39893188 MACF1 A>G	1	39893188	39893188	A	G	MACF1	c.10192A>G	NM_012090.5	NP_036222.3:p.(Ile3398Val)	NC_000001.10:g.39893188A>G	(Likely) benign	1 lab	beb5f56f8f
1:9324394 H6PD G>A	1	9324394	9324394	G	A	H6PD	c.1842G>A	NM_004285.3	NP_004276.2:p.(Thr614=)	NC_000001.10:g.9324394G>A	(Likely) benign	1 lab	beb6266cf5
4:6303001 WFS1 C>T	4	6303001	6303001	C	T	WFS1	c.1479C>T	NM_006005.3	NP_005996.2:p.(Val493=)	NC_000004.11:g.6303001C>T	(Likely) benign	1 lab	beb7f517b3
1:210187050 SYT14 A>G	1	210187050	210187050	A	G	SYT14	c.20A>G	NM_001256006.1	NP_001242935.1:p.(Tyr7Cys)	NC_000001.10:g.210187050A>G	VUS	1 lab	beb98f9690
2:99006144 CNGA3 C>T	2	99006144	99006144	C	T	CNGA3	c.473C>T	NM_001298.2	NP_001289.1:p.(Ala158Val)	NC_000002.11:g.99006144C>T	VUS	1 lab	bebcc889bd
7:4825306 AP5Z1 C>G	7	4825306	4825306	C	G	AP5Z1	c.1123C>G	NM_014855.3	NP_055670.1:p.(Leu375Val)	NC_000007.13:g.4825306C>G	VUS	1 lab	bebcd3bdf2
5:110428286 WDR36 C>T	5	110428286	110428286	C	T	WDR36	c.300C>T	NM_139281.2	NP_644810.1:p.(Thr100=)	NC_000005.9:g.110428286C>T	(Likely) benign	1 lab	bebdd5029a
X:39914741 BCOR C>T	X	39914741	39914741	C	T	BCOR	c.4621G>A	NM_001123385.1	NP_001116857.1:p.(Asp1541Asn)	NC_000023.10:g.39914741C>T	VUS	1 lab	bebdd64501
10:118893968 VAX1 G>A	10	118893968	118893968	G	A	VAX1	c.556C>T	NM_001112704.1	NP_001106175.1:p.(Arg186Cys)	NC_000010.10:g.118893968G>A	VUS	1 lab	bebef29505
3:38149135 DLEC1 G>A	3	38149135	38149135	G	A	DLEC1	c.2925G>A	NM_001321153.1	NP_001308082.1:p.(Val975=)	NC_000003.11:g.38149135G>A	VUS	1 lab	bec0403121
19:8670200 ADAMTS10 G>A	19	8670200	8670200	G	A	ADAMTS10	c.132C>T	NM_030957.3	NP_112219.3:p.(Pro44=)	NC_000019.9:g.8670200G>A	(Likely) benign	1 lab	bec07126ad
17:78023722 CCDC40 C>T	17	78023722	78023722	C	T	CCDC40	c.873C>T	NM_017950.3	NP_060420.2:p.(Phe291=)	NC_000017.10:g.78023722C>T	(Likely) benign	1 lab	bec2071a56
6:24437397 GPLD1 C>T	6	24437397	24437397	C	T	GPLD1	c.2141G>A	NM_001503.3	NP_001494.2:p.(Arg714His)	NC_000006.11:g.24437397C>T	VUS	1 lab	bec2d098cb
3:47163138 SETD2 T>C	3	47163138	47163138	T	C	SETD2	c.2988A>G	NM_014159.6	NP_054878.5:p.(Ser996=)	NC_000003.11:g.47163138T>C	(Likely) benign	1 lab	bec817b2c0
7:155595794 SHH GGTCC>G	7	155595794	155595800	GGTCC	G	SHH	c.1185_1188del	NM_000193.4	NP_000184.1:p.(Asp396AlafsTer17)	NC_000007.13:g.155595797_155595800del	(Likely) pathogenic	1 lab	bec8fe5ef5
4:40245150 RHOH T>C	4	40245150	40245150	T	C	RHOH	c.144T>C	NM_001278359.1	NP_001265288.1:p.(Asp48=)	NC_000004.11:g.40245150T>C	(Likely) benign	1 lab	beca25de88
8:6479160 MCPH1 C>T	8	6479160	6479160	C	T	MCPH1	c.2400C>T	NM_024596.4	NP_078872.2:p.(Tyr800=)	NC_000008.10:g.6479160C>T	(Likely) benign	1 lab	beca2cfbf0
X:40594914 MED14OS A>G	X	40594914	40594914	A	G	MED14OS	c.214A>G	NM_001289773.1	NP_001276702.1:p.(Arg72Gly)	NC_000023.10:g.40594914A>G	(Likely) benign	1 lab	beca5c159c
10:104264280 SUFU C>T	10	104264280	104264280	C	T	SUFU	c.182+189C>T	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104264280C>T	(Likely) benign	1 lab	beca5d9002
X:149828127 MTM1 A>G	X	149828127	149828127	A	G	MTM1	c.1261-10A>G	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149828127A>G	(Likely) pathogenic	1 lab	beca673af5
4:183651430 TENM3 A>G	4	183651430	183651430	A	G	TENM3	c.2663A>G	NM_001080477.3	NP_001073946.1:p.(His888Arg)	NC_000004.11:g.183651430A>G	VUS	1 lab	becbbafc0e
17:41256154 BRCA1 G>A	17	41256154	41256154	G	A	BRCA1	c.426C>T	NM_007294.3	NP_009225.1:p.(Pro142=)	NC_000017.10:g.41256154G>A	(Likely) benign	1 lab	becd354ad5
20:32376735 ZNF341 A>G	20	32376735	32376735	A	G	ZNF341	c.1919A>G	NM_001282933.1	NP_001269862.1:p.(His640Arg)	NC_000020.10:g.32376735A>G	VUS	1 lab	becd9a49aa
16:89598974 SPG7 C>T	16	89598974	89598974	C	T	SPG7	c.1254C>T	NM_001363850.1	NP_001350779.1:p.(Ser418=)	NC_000016.9:g.89598974C>T	(Likely) benign	1 lab	becee02a07
22:30051658 NF2 C>T	22	30051658	30051658	C	T	NF2	c.592C>T	NM_000268.3	NP_000259.1:p.(Arg198Ter)	NC_000022.10:g.30051658C>T	(Likely) pathogenic	1 lab	becf4eee9d
1:22159062 HSPG2 C>T	1	22159062	22159062	C	T	HSPG2	c.11136G>A	NM_001291860.1	NP_001278789.1:p.(Gly3712=)	NC_000001.10:g.22159062C>T	(Likely) benign	1 lab	becf744fab
2:166234153 SCN2A C>G	2	166234153	166234153	C	G	SCN2A	c.4301C>G	NM_021007.2	NP_066287.2:p.(Ser1434Ter)	NC_000002.11:g.166234153C>G	(Likely) pathogenic	1 lab	becfed2b04
6:146720515 GRM1 C>T	6	146720515	146720515	C	T	GRM1	c.2340C>T	NM_001278065.1	NP_001264994.1:p.(Asn780=)	NC_000006.11:g.146720515C>T	(Likely) benign	1 lab	bed09c3dd0
12:48191935 HDAC7 G>A	12	48191935	48191935	G	A	HDAC7	c.366C>T	NM_001308090.1	NP_001295019.1:p.(Ala122=)	NC_000012.11:g.48191935G>A	(Likely) benign	1 lab	bed0cd8248
10:101559004 ABCC2 A>G	10	101559004	101559004	A	G	ABCC2	c.908A>G	NM_000392.5	NP_000383.2:p.(Lys303Arg)	NC_000010.10:g.101559004A>G	(Likely) benign	1 lab	bed17539dc
12:26752257 ITPR2 G>A	12	26752257	26752257	G	A	ITPR2	c.3823C>T	NM_002223.3	NP_002214.2:p.(Arg1275Trp)	NC_000012.11:g.26752257G>A	VUS	1 lab	bed4b71bb3
3:195595267 TNK2 C>T	3	195595267	195595267	C	T	TNK2	c.1857G>A	NM_005781.4	NP_005772.3:p.(Thr619=)	NC_000003.11:g.195595267C>T	(Likely) benign	1 lab	bed5803c33
5:138855862 STING1 C>A	5	138855862	138855862	C	A	STING1	c.1124G>T	NM_198282.4	NP_938023.1:p.(Arg375Leu)	NC_000005.9:g.138855862C>A	VUS	1 lab	bed5fe95c6
10:95422929 PDE6C G>A	10	95422929	95422929	G	A	PDE6C	c.2512G>A	NM_006204.3	NP_006195.3:p.(Glu838Lys)	NC_000010.10:g.95422929G>A	(Likely) benign	1 lab	bed7ab4fda
1:203769074 ZBED6 G>T	1	203769074	203769074	G	T	ZBED6	c.2424G>T	NM_001174108.2	NP_001167579.1:p.(Glu808Asp)	NC_000001.10:g.203769074G>T	(Likely) benign	1 lab	bed9236b3e
14:102349790 PPP2R5C G>A	14	102349790	102349790	G	A	PPP2R5C	c.613G>A	NM_001161725.1	NP_001155197.1:p.(Glu205Lys)	NC_000014.8:g.102349790G>A	VUS	1 lab	beda04e7d0
2:242256950 SEPTIN2 AT>A	2	242256950	242256967	AT	A	SEPTIN2	c.-18+1570del	NM_004404.5	NP_004395.1:p.?	NC_000002.11:g.242256967del	(Likely) benign	1 lab	bee01a11a3
11:22279284 ANO5 C>A	11	22279284	22279284	C	A	ANO5	c.1391C>A	NM_213599.2	NP_998764.1:p.(Ala464Asp)	NC_000011.9:g.22279284C>A	VUS	1 lab	bee270c2e1
13:113824745 PROZ G>A	13	113824745	113824745	G	A	PROZ	c.658G>A	NM_001256134.1	NP_001243063.1:p.(Glu220Lys)	NC_000013.10:g.113824745G>A	(Likely) benign	1 lab	bee31c3b6e
3:193366592 OPA1 ATTTG>A	3	193366592	193366596	ATTTG	A	OPA1	c.1945_1948del	NM_130837.3	NP_570850.2:p.(Phe649LysfsTer14)	NC_000003.11:g.193366593_193366596del	(Likely) pathogenic	1 lab	bee4a46152
10:100177940 HPS1 G>T	10	100177940	100177940	G	T	HPS1	c.960C>A	NM_001322487.1	NP_001309416.1:p.(Asp320Glu)	NC_000010.10:g.100177940G>T	VUS	1 lab	bee4cff4f5
7:751029 PRKAR1B G>C	7	751029	751029	G	C	PRKAR1B	c.114C>G	NM_001164761.1	NP_001158233.1:p.(Leu38=)	NC_000007.13:g.751029G>C	(Likely) benign	1 lab	bee5cebd04
5:90004717 ADGRV1 C>T	5	90004717	90004717	C	T	ADGRV1	c.8815C>T	NM_032119.4	NP_115495.3:p.(Pro2939Ser)	NC_000005.9:g.90004717C>T	VUS	1 lab	bee6257609
4:47939805 CNGA1 G>GT	4	47939805	47939808	G	GT	CNGA1	c.912dup	NM_001142564.1	NP_001136036.1:p.(Leu305ThrfsTer4)	NC_000004.11:g.47939808dup	(Likely) pathogenic	1 lab	bee6ca7ea3
5:43280515 NIM1K C>T	5	43280515	43280515	C	T	NIM1K	c.995C>T	NM_153361.4	NP_699192.1:p.(Thr332Ile)	NC_000005.9:g.43280515C>T	(Likely) benign	1 lab	bee9e9ebc6
X:47444408 TIMP1 G>T	X	47444408	47444408	G	T	TIMP1	c.195G>T	NM_003254.2	NP_003245.1:p.(Met65Ile)	NC_000023.10:g.47444408G>T	(Likely) benign	1 lab	beead620d0
7:143881412 CTAGE4 C>T	7	143881412	143881412	C	T	CTAGE4	c.816C>T	NM_198495.2	NP_940897.2:p.(His272=)	NC_000007.13:g.143881412C>T	(Likely) benign	1 lab	beebecbe21
10:73490244 CDH23 G>A	10	73490244	73490244	G	A	CDH23	c.3598G>A	NM_022124.5	NP_071407.4:p.(Asp1200Asn)	NC_000010.10:g.73490244G>A	VUS	1 lab	beec441a60
10:101689712 DNMBP G>A	10	101689712	101689712	G	A	DNMBP	c.809C>T	NM_001318326.1	NP_001305255.1:p.(Ala270Val)	NC_000010.10:g.101689712G>A	VUS	1 lab	bef0b528b4
16:2138316 TSC2 T>C	16	2138316	2138316	T	C	TSC2	c.5249T>C	NM_000548.3	NP_000539.2:p.(Leu1750Pro)	NC_000016.9:g.2138316T>C	(Likely) pathogenic	1 lab	bef0f50fea
1:52851581 ORC1 C>T	1	52851581	52851581	C	T	ORC1	c.1424G>A	NM_004153.3	NP_004144.2:p.(Arg475His)	NC_000001.10:g.52851581C>T	VUS	1 lab	bef10b84e2
17:39724752 KRT9 C>A	17	39724752	39724752	C	A	KRT9	c.1170+8G>T	NM_000226.3	NP_000217.2:p.?	NC_000017.10:g.39724752C>A	(Likely) benign	1 lab	bef185f43b
12:51389573 SLC11A2 A>G	12	51389573	51389573	A	G	SLC11A2	c.832-3T>C	NM_001174129.1	NP_001167600.1:p.?	NC_000012.11:g.51389573A>G	(Likely) benign	1 lab	bef28adc7c
11:613353 IRF7 G>GC	11	613353	613358	G	GC	IRF7	c.1128dup	NM_004031.3	NP_004022.2:p.(Pro377AlafsTer38)	NC_000011.9:g.613358dup	(Likely) pathogenic	1 lab	bef3dae180
21:34058146 SYNJ1 C>T	21	34058146	34058146	C	T	SYNJ1	c.1147G>A	NM_203446.2	NP_982271.2:p.(Ala383Thr)	NC_000021.8:g.34058146C>T	(Likely) benign	1 lab	bef3f8a339
15:65992897 DENND4A C>T	15	65992897	65992897	C	T	DENND4A	c.2818G>A	NM_001320835.1	NP_001307764.1:p.(Asp940Asn)	NC_000015.9:g.65992897C>T	VUS	1 lab	bef85912f5
X:18913259 PHKA2 T>TCGGGTC	X	18913259	18913265	T	TCGGGTC	PHKA2	c.3327_3332dup	NM_000292.2	NP_000283.1:p.(Thr1110_Arg1111dup)	NC_000023.10:g.18913260_18913265dup	(Likely) pathogenic	1 lab	bef90b8c74
8:30648810 PPP2CB G>A	8	30648810	30648810	G	A	PPP2CB	c.760C>T	NM_001009552.2	NP_001009552.1:p.(Arg254Trp)	NC_000008.10:g.30648810G>A	VUS	1 lab	bef98ac817
X:48053640 SSX5 G>C	X	48053640	48053640	G	C	SSX5	c.328C>G	NM_021015.3	NP_066295.3:p.(Pro110Ala)	NC_000023.10:g.48053640G>C	(Likely) benign	1 lab	befad3c295
6:44273388 AARS2 AC>A	6	44273388	44273390	AC	A	AARS2	c.1434+1del	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44273390del	(Likely) pathogenic	1 lab	befb377fe7
6:33152826 COL11A2 G>A	6	33152826	33152826	G	A	COL11A2	c.882C>T	NM_080680.2	NP_542411.2:p.(Pro294=)	NC_000006.11:g.33152826G>A	(Likely) benign	1 lab	befc71c098
19:33902600 PEPD T>C	19	33902600	33902600	T	C	PEPD	c.796A>G	NM_000285.3	NP_000276.2:p.(Thr266Ala)	NC_000019.9:g.33902600T>C	(Likely) benign	1 lab	befcdbd67e
17:8025033 HES7 G>T	17	8025033	8025033	G	T	HES7	c.549C>A	NM_001165967.2	NP_001159439.1:p.(Ser183=)	NC_000017.10:g.8025033G>T	(Likely) benign	1 lab	befcfc88bb
9:137696837 COL5A1 C>T	9	137696837	137696837	C	T	COL5A1	c.3131C>T	NM_000093.4	NP_000084.3:p.(Ala1044Val)	NC_000009.11:g.137696837C>T	VUS	1 lab	befd40a767
14:29236736 FOXG1 C>A	14	29236736	29236736	C	A	FOXG1	c.251C>A	NM_005249.4	NP_005240.3:p.(Pro84His)	NC_000014.8:g.29236736C>A	(Likely) benign	1 lab	befdf8b6a6
16:2138295 TSC2 G>T	16	2138295	2138295	G	T	TSC2	c.5228G>T	NM_000548.3	NP_000539.2:p.(Arg1743Leu)	NC_000016.9:g.2138295G>T	(Likely) pathogenic	1 lab	bf00049c77
21:34715594 IFNAR1 G>T	21	34715594	34715594	G	T	IFNAR1	c.397G>T	NM_000629.3	NP_000620.2:p.(Val133Leu)	NC_000021.8:g.34715594G>T	VUS	1 lab	bf02773ee1
12:112677018 HECTD4 G>A	12	112677018	112677018	G	A	HECTD4	c.4726C>T	NM_001109662.3	NP_001103132.3:p.(Arg1576Cys)	NC_000012.11:g.112677018G>A	VUS	1 lab	bf04c89cb3
7:45140909 TBRG4 C>T	7	45140909	45140909	C	T	TBRG4	c.1742G>A	NM_004749.4	NP_004740.2:p.(Arg581His)	NC_000007.13:g.45140909C>T	VUS	1 lab	bf04e63fe4
2:125547600 CNTNAP5 C>T	2	125547600	125547600	C	T	CNTNAP5	c.2874C>T	NM_001367498.1	NP_001354427.1:p.(Pro958=)	NC_000002.11:g.125547600C>T	(Likely) benign	1 lab	bf05cbb82c
X:66905894 AR T>A	X	66905894	66905894	T	A	AR	c.1811T>A	NM_000044.4	NP_000035.2:p.(Ile604Asn)	NC_000023.10:g.66905894T>A	(Likely) pathogenic	1 lab	bf06d34a90
1:197059382 ASPM T>C	1	197059382	197059382	T	C	ASPM	c.9773A>G	NM_018136.4	NP_060606.3:p.(His3258Arg)	NC_000001.10:g.197059382T>C	(Likely) benign	1 lab	bf0806bb53
15:31329943 TRPM1 C>T	15	31329943	31329943	C	T	TRPM1	c.2593G>A	NM_001252020.1	NP_001238949.1:p.(Ala865Thr)	NC_000015.9:g.31329943C>T	VUS	1 lab	bf08320737
15:51510760 CYP19A1 A>T	15	51510760	51510760	A	T	CYP19A1	c.721T>A	NM_031226.2	NP_112503.1:p.(Tyr241Asn)	NC_000015.9:g.51510760A>T	VUS	1 lab	bf09eeb558
22:18907230 PRODH C>A	22	18907230	18907230	C	A	PRODH	c.1093G>T	NM_016335.4	NP_057419.4:p.(Val365Phe)	NC_000022.10:g.18907230C>A	VUS	1 lab	bf0b442e2b
3:33058333 GLB1 C>G	3	33058333	33058333	C	G	GLB1	c.1492-1G>C	NM_001317040.1	NP_001303969.1:p.?	NC_000003.11:g.33058333C>G	(Likely) pathogenic	1 lab	bf0bf322ff
11:67812456 TCIRG1 G>A	11	67812456	67812456	G	A	TCIRG1	c.158G>A	NM_001351059.1	NP_001337988.1:p.(Arg53His)	NC_000011.9:g.67812456G>A	VUS	1 lab	bf0d2c6dfc
3:164777725 SI C>T	3	164777725	164777725	C	T	SI	c.1111G>A	NM_001041.3	NP_001032.2:p.(Val371Met)	NC_000003.11:g.164777725C>T	VUS	1 lab	bf0d5fbf3b
16:15829420 MYH11 G>A	16	15829420	15829420	G	A	MYH11	c.3330C>T	NM_001040113.1	NP_001035202.1:p.(Ile1110=)	NC_000016.9:g.15829420G>A	(Likely) benign	1 lab	bf0dc5d5cf
11:78383259 TENM4 G>C	11	78383259	78383259	G	C	TENM4	c.5612C>G	NM_001098816.2	NP_001092286.2:p.(Pro1871Arg)	NC_000011.9:g.78383259G>C	VUS	1 lab	bf0e929504
16:85694934 GSE1 A>T	16	85694934	85694934	A	T	GSE1	c.1823A>T	NM_014615.4	NP_055430.1:p.(His608Leu)	NC_000016.9:g.85694934A>T	VUS	1 lab	bf1028f205
5:150947666 FAT2 A>G	5	150947666	150947666	A	G	FAT2	c.827T>C	NM_001447.2	NP_001438.1:p.(Leu276Pro)	NC_000005.9:g.150947666A>G	(Likely) benign	1 lab	bf10bb4db1
9:84610028 SPATA31D1 G>A	9	84610028	84610028	G	A	SPATA31D1	c.4643G>A	NM_001001670.2	NP_001001670.1:p.(Ser1548Asn)	NC_000009.11:g.84610028G>A	VUS	1 lab	bf11c04cdb
10:79396700 KCNMA1 C>T	10	79396700	79396700	C	T	KCNMA1	c.443G>A	NM_001271520.1	NP_001258449.1:p.(Gly148Glu)	NC_000010.10:g.79396700C>T	VUS	1 lab	bf12b65eb5
13:32915318 BRCA2 C>G	13	32915318	32915318	C	G	BRCA2	c.6826C>G	NM_000059.3	NP_000050.2:p.(Pro2276Ala)	NC_000013.10:g.32915318C>G	(Likely) benign	1 lab	bf12e22721
17:73513721 TSEN54 C>T	17	73513721	73513721	C	T	TSEN54	c.453C>T	NM_207346.2	NP_997229.2:p.(Thr151=)	NC_000017.10:g.73513721C>T	(Likely) benign	1 lab	bf137f0e6f
9:131302584 GLE1 G>T	9	131302584	131302584	G	T	GLE1	c.1995G>T	NM_001003722.1	NP_001003722.1:p.(Met665Ile)	NC_000009.11:g.131302584G>T	VUS	1 lab	bf154f2d33
17:78064141 CCDC40 A>G	17	78064141	78064141	A	G	CCDC40	c.3036A>G	NM_001243342.1	NP_001230271.1:p.(Arg1012=)	NC_000017.10:g.78064141A>G	(Likely) benign	1 lab	bf16ed8373
16:71096164 HYDIN T>C	16	71096164	71096164	T	C	HYDIN	c.2284A>G	NM_001270974.2	NP_001257903.1:p.(Ile762Val)	NC_000016.9:g.71096164T>C	(Likely) benign	1 lab	bf1768c4a0
22:38522424 PLA2G6 G>A	22	38522424	38522424	G	A	PLA2G6	c.1381C>T	NM_003560.2	NP_003551.2:p.(Arg461Trp)	NC_000022.10:g.38522424G>A	(Likely) benign	1 lab	bf18c9ceda
14:23243553 SLC7A7 G>A	14	23243553	23243553	G	A	SLC7A7	c.1245+10C>T	NM_001126106.2	NP_001119578.1:p.?	NC_000014.8:g.23243553G>A	(Likely) benign	1 lab	bf199083b0
12:88483178 CEP290 C>A	12	88483178	88483178	C	A	CEP290	c.3660G>T	NM_025114.3	NP_079390.3:p.(Lys1220Asn)	NC_000012.11:g.88483178C>A	VUS	1 lab	bf19f90d32
9:37020753 PAX5 C>T	9	37020753	37020753	C	T	PAX5	c.92G>A	NM_016734.2	NP_057953.1:p.(Arg31Gln)	NC_000009.11:g.37020753C>T	VUS	1 lab	bf1be066e1
7:47894518 PKD1L1 T>A	7	47894518	47894518	T	A	PKD1L1	c.4821A>T	NM_138295.4	NP_612152.1:p.(Lys1607Asn)	NC_000007.13:g.47894518T>A	VUS	1 lab	bf1c85299e
X:2867471 ARSL A>G	X	2867471	2867471	A	G	ARSL	c.803T>C	NM_001282628.1	NP_001269557.1:p.(Phe268Ser)	NC_000023.10:g.2867471A>G	(Likely) benign	1 lab	bf1cb52d29
12:40699578 LRRK2 C>T	12	40699578	40699578	C	T	LRRK2	c.3778-9C>T	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40699578C>T	(Likely) benign	1 lab	bf1cdf734f
11:119213441 MFRP C>T	11	119213441	119213441	C	T	MFRP	c.1256-4G>A	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119213441C>T	(Likely) benign	1 lab	bf1ef81772
X:92964827 FAM133A C>A	X	92964827	92964827	C	A	FAM133A	c.409C>A	NM_001171110.1	NP_001164581.1:p.(Arg137Ser)	NC_000023.10:g.92964827C>A	(Likely) benign	1 lab	bf208737a9
15:39879662 THBS1 G>A	15	39879662	39879662	G	A	THBS1	c.1235G>A	NM_003246.3	NP_003237.2:p.(Arg412Gln)	NC_000015.9:g.39879662G>A	VUS	1 lab	bf22333265
17:29560125 NF1 T>A	17	29560125	29560125	T	A	NF1	c.3602T>A	NM_000267.3	NP_000258.1:p.(Leu1201Ter)	NC_000017.10:g.29560125T>A	(Likely) pathogenic	1 lab	bf2256886a
6:83898406 PGM3 G>T	6	83898406	83898406	G	T	PGM3	c.400C>A	NM_001367287.1	NP_001354216.1:p.(Leu134Ile)	NC_000006.11:g.83898406G>T	(Likely) benign	1 lab	bf22ad0fa0
19:45867532 ERCC2 C>A	19	45867532	45867532	C	A	ERCC2	c.776G>T	NM_000400.3	NP_000391.1:p.(Cys259Phe)	NC_000019.9:g.45867532C>A	VUS	1 lab	bf2344fec4
8:61778216 CHD7 C>T	8	61778216	61778216	C	T	CHD7				NC_000008.10:g.61778216C>T	(Likely) benign	1 lab	bf2404bb71
1:24122750 GALE C>T	1	24122750	24122750	C	T	GALE	c.879G>A	NM_000403.3	NP_000394.2:p.(Pro293=)	NC_000001.10:g.24122750C>T	(Likely) benign	1 lab	bf2658a141
17:29687885 NF1 G>GAAGC	17	29687885	29687889	G	GAAGC	NF1	c.8314+165_8314+168dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29687886_29687889dup	(Likely) benign	1 lab	bf265c91b9
12:16430580 SLC15A5 G>T	12	16430580	16430580	G	T	SLC15A5	c.40C>A	NM_001170798.1	NP_001164269.1:p.(His14Asn)	NC_000012.11:g.16430580G>T	(Likely) benign	1 lab	bf2738af03
6:43581755 POLH A>G	6	43581755	43581755	A	G	POLH	c.1603A>G	NM_006502.2	NP_006493.1:p.(Lys535Glu)	NC_000006.11:g.43581755A>G	(Likely) benign	1 lab	bf29bf765e
X:148586645 IDS C>A	X	148586645	148586645	C	A	IDS	c.23G>T	NM_000202.7	NP_000193.1:p.(Arg8Leu)	NC_000023.10:g.148586645C>A	(Likely) benign	1 lab	bf2c99f2d9
21:47832917 PCNT G>C	21	47832917	47832917	G	C	PCNT	c.6150+11G>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47832917G>C	(Likely) benign	1 lab	bf2e18fd97
4:128817963 PLK4 G>A	4	128817963	128817963	G	A	PLK4	c.2711G>A	NM_014264.4	NP_055079.3:p.(Ser904Asn)	NC_000004.11:g.128817963G>A	VUS	1 lab	bf2e479262
19:2249634 AMH G>A	19	2249634	2249634	G	A	AMH	c.303G>A	NM_000479.4	NP_000470.2:p.(Gly101=)	NC_000019.9:g.2249634G>A	(Likely) benign	1 lab	bf2ed7fefb
X:67932827 STARD8 G>A	X	67932827	67932827	G	A	STARD8	c.151G>A	NM_001142503.2	NP_001135975.1:p.(Glu51Lys)	NC_000023.10:g.67932827G>A	VUS	1 lab	bf30e4bc07
16:2124337 TSC2 C>T	16	2124337	2124337	C	T	TSC2	c.2492C>T	NM_001114382.2	NP_001107854.1:p.(Thr831Met)	NC_000016.9:g.2124337C>T	VUS	1 lab	bf31cf1712
12:80730197 OTOGL G>A	12	80730197	80730197	G	A	OTOGL	c.4578G>A	NM_173591.3	NP_775862.3:p.(Arg1526=)	NC_000012.11:g.80730197G>A	(Likely) benign	1 lab	bf33354b31
16:2121908 TSC2 C>CCG	16	2121908	2121912	C	CCG	TSC2	c.2073_2074dup	NM_000548.3	NP_000539.2:p.(Val692AlafsTer7)	NC_000016.9:g.2121911_2121912dup	(Likely) pathogenic	1 lab	bf33eb0c70
16:2159738 PKD1 G>A	16	2159738	2159738	G	A	PKD1	c.5430C>T	NM_001009944.2	NP_001009944.2:p.(Ser1810=)	NC_000016.9:g.2159738G>A	VUS	1 lab	bf34382742
X:138630554 F9 G>A	X	138630554	138630554	G	A	F9	c.424G>A	NM_000133.3	NP_000124.1:p.(Glu142Lys)	NC_000023.10:g.138630554G>A	(Likely) benign	1 lab	bf34822a13
21:47674759 MCM3AP C>A	21	47674759	47674759	C	A	MCM3AP	c.3933-1G>T	NM_003906.4	NP_003897.2:p.?	NC_000021.8:g.47674759C>A	VUS	1 lab	bf34d2827c
22:18324615 MICAL3 G>A	22	18324615	18324615	G	A	MICAL3	c.2774C>T	NM_015241.3	NP_056056.2:p.(Thr925Met)	NC_000022.10:g.18324615G>A	VUS	1 lab	bf35c68e07
12:49445741 KMT2D T>A	12	49445741	49445741	T	A	KMT2D	c.1725A>T	NM_003482.3	NP_003473.3:p.(Pro575=)	NC_000012.11:g.49445741T>A	(Likely) benign	1 lab	bf360518a3
19:36558216 WDR62 C>T	19	36558216	36558216	C	T	WDR62	c.570C>T	NM_001083961.1	NP_001077430.1:p.(Ile190=)	NC_000019.9:g.36558216C>T	(Likely) benign	1 lab	bf367e971d
X:39932850 BCOR G>A	X	39932850	39932850	G	A	BCOR	c.1749C>T	NM_001123385.1	NP_001116857.1:p.(Thr583=)	NC_000023.10:g.39932850G>A	(Likely) benign	1 lab	bf38aede20
12:21054411 SLCO1B3 C>T	12	21054411	21054411	C	T	SLCO1B3	c.1865+10C>T	NM_019844.3	NP_062818.1:p.?	NC_000012.11:g.21054411C>T	(Likely) benign	1 lab	bf390efaea
1:39757636 MACF1 C>T	1	39757636	39757636	C	T	MACF1	c.1855C>T	NM_012090.5	NP_036222.3:p.(Leu619=)	NC_000001.10:g.39757636C>T	(Likely) benign	1 lab	bf3bd2b25c
10:27409433 YME1L1 G>GAC	10	27409433	27409435	G	GAC	YME1L1	c.1512_1513insGT	NM_139312.2	NP_647473.1:p.(Pro505ValfsTer6)	NC_000010.10:g.27409434_27409435insCA	(Likely) pathogenic	1 lab	bf3e538c69
7:5348874 TNRC18 G>A	7	5348874	5348874	G	A	TNRC18	c.8514C>T	NM_001080495.2	NP_001073964.2:p.(Ile2838=)	NC_000007.13:g.5348874G>A	(Likely) benign	1 lab	bf3eb2e4b9
15:87217553 AGBL1 G>C	15	87217553	87217553	G	C	AGBL1	c.3107G>C	NM_152336.3	NP_689549.3:p.(Cys1036Ser)	NC_000015.9:g.87217553G>C	VUS	1 lab	bf3fc374f7
6:152552664 SYNE1 C>T	6	152552664	152552664	C	T	SYNE1	c.20901G>A	NM_182961.3	NP_892006.3:p.(Val6967=)	NC_000006.11:g.152552664C>T	(Likely) benign	1 lab	bf41fd2cbc
2:47249115 TTC7A G>A	2	47249115	47249115	G	A	TTC7A	c.1507G>A	NM_001288951.1	NP_001275880.1:p.(Asp503Asn)	NC_000002.11:g.47249115G>A	VUS	1 lab	bf42b8c0ca
1:27700453 FCN3 C>T	1	27700453	27700453	C	T	FCN3	c.232+3G>A	NM_003665.2	NP_003656.2:p.?	NC_000001.10:g.27700453C>T	(Likely) benign	1 lab	bf42f57dd6
13:32937685 BRCA2 A>G	13	32937685	32937685	A	G	BRCA2	c.8331+15A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937685A>G	(Likely) benign	1 lab	bf45450a30
10:88260094 MISSING C>T	10	88260094	88260094	C	T	MISSING				NC_000010.10:g.88260094C>T	(Likely) benign	1 lab	bf47700084
21:47831969 PCNT C>G	21	47831969	47831969	C	G	PCNT	c.5982C>G	NM_006031.5	NP_006022.3:p.(Val1994=)	NC_000021.8:g.47831969C>G	(Likely) benign	1 lab	bf485fc056
10:46321470 AGAP4 C>T	10	46321470	46321470	C	T	AGAP4	c.1630G>A	NM_001291379.1	NP_001278308.1:p.(Ala544Thr)	NC_000010.10:g.46321470C>T	(Likely) benign	1 lab	bf489c610e
16:16276788 ABCC6 C>G	16	16276788	16276788	C	G	ABCC6	c.1944-1G>C	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16276788C>G	(Likely) pathogenic	1 lab	bf49df31c1
21:46876561 COL18A1 T>TG	21	46876561	46876568	T	TG	COL18A1	c.1124dup	NM_130444.3	NP_569711.2:p.(Leu376ProfsTer101)	NC_000021.8:g.46876568dup	(Likely) benign	1 lab	bf4aa58d86
X:135067779 SLC9A6 G>T	X	135067779	135067779	G	T	SLC9A6	c.118G>T	NM_001042537.1	NP_001036002.1:p.(Ala40Ser)	NC_000023.10:g.135067779G>T	VUS	1 lab	bf4bca8eb2
3:4490975 SUMF1 T>C	3	4490975	4490975	T	C	SUMF1	c.494A>G	NM_182760.3	NP_877437.2:p.(Gln165Arg)	NC_000003.11:g.4490975T>C	(Likely) benign	1 lab	bf501ddf57
X:153580679 FLNA GCTGA>G	X	153580679	153580686	GCTGA	G	FLNA	c.6635_6638del	NM_001110556.2	NP_001104026.1:p.(Val2212AlafsTer2)	NC_000023.10:g.153580683_153580686del	(Likely) pathogenic	1 lab	bf51d37430
2:233386531 PRSS56 G>C	2	233386531	233386531	G	C	PRSS56	c.211G>C	NM_001195129.1	NP_001182058.1:p.(Gly71Arg)	NC_000002.11:g.233386531G>C	(Likely) benign	1 lab	bf527f62ab
4:169433419 PALLD G>A	4	169433419	169433419	G	A	PALLD	c.764G>A	NM_001166108.2	NP_001159580.1:p.(Arg255His)	NC_000004.11:g.169433419G>A	(Likely) benign	1 lab	bf52e7d3ae
16:731556 STUB1 C>T	16	731556	731556	C	T	STUB1	c.261C>T	NM_001293197.1	NP_001280126.1:p.(Ser87=)	NC_000016.9:g.731556C>T	(Likely) benign	1 lab	bf53b72e19
1:21890555 ALPL C>T	1	21890555	21890555	C	T	ALPL	c.494C>T	NM_000478.5	NP_000469.3:p.(Thr165Ile)	NC_000001.10:g.21890555C>T	VUS	1 lab	bf5416b936
14:23859660 MYH6 G>A	14	23859660	23859660	G	A	MYH6	c.3343-5C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23859660G>A	(Likely) benign	1 lab	bf5719fd6f
7:141490497 TAS2R5 C>T	7	141490497	141490497	C	T	TAS2R5	c.336C>T	NM_018980.2	NP_061853.1:p.(Arg112=)	NC_000007.13:g.141490497C>T	(Likely) benign	1 lab	bf57ae2284
11:62286476 AHNAK G>A	11	62286476	62286476	G	A	AHNAK	c.15413C>T	NM_001620.2	NP_001611.1:p.(Ala5138Val)	NC_000011.9:g.62286476G>A	(Likely) benign	1 lab	bf57e94476
16:23646564 PALB2 C>A	16	23646564	23646564	C	A	PALB2	c.1303G>T	NM_024675.3	NP_078951.2:p.(Val435Phe)	NC_000016.9:g.23646564C>A	(Likely) benign	1 lab	bf592ab3f5
1:6479067 HES2 C>T	1	6479067	6479067	C	T	HES2	c.388G>A	NM_019089.5	NP_061962.2:p.(Gly130Ser)	NC_000001.10:g.6479067C>T	(Likely) benign	1 lab	bf59bdfe86
5:167552030 TENM2 C>T	5	167552030	167552030	C	T	TENM2	c.2184C>T	NM_001122679.1	NP_001116151.1:p.(Asn728=)	NC_000005.9:g.167552030C>T	(Likely) benign	1 lab	bf59da3968
15:101420218 ALDH1A3 C>A	15	101420218	101420218	C	A	ALDH1A3	c.99+7C>A	NM_000693.3	NP_000684.2:p.?	NC_000015.9:g.101420218C>A	(Likely) benign	1 lab	bf5a638f0a
2:220370441 GMPPA T>C	2	220370441	220370441	T	C	GMPPA	c.858T>C	NM_205847.2	NP_995319.1:p.(Asn286=)	NC_000002.11:g.220370441T>C	(Likely) benign	1 lab	bf5a927ed6
2:220078392 ABCB6 T>C	2	220078392	220078392	T	C	ABCB6	c.1579-4A>G	NM_005689.2	NP_005680.1:p.?	NC_000002.11:g.220078392T>C	(Likely) benign	1 lab	bf5ab35d45
22:38516894 PLA2G6 G>A	22	38516894	38516894	G	A	PLA2G6	c.1614C>T	NM_003560.2	NP_003551.2:p.(Arg538=)	NC_000022.10:g.38516894G>A	(Likely) benign	1 lab	bf5b185244
5:149499658 PDGFRB G>A	5	149499658	149499658	G	A	PDGFRB	c.2132C>T	NM_001355017.1	NP_001341946.1:p.(Pro711Leu)	NC_000005.9:g.149499658G>A	VUS	1 lab	bf5b33df92
4:2831492 SH3BP2 A>T	4	2831492	2831492	A	T	SH3BP2	c.859A>T	NM_003023.4	NP_003014.3:p.(Thr287Ser)	NC_000004.11:g.2831492A>T	(Likely) benign	1 lab	bf5bd6df07
1:155210490 GBA1 T>C	1	155210490	155210490	T	C	GBA1	c.46A>G	NM_000157.4	NP_000148.2:p.(Ser16Gly)	NC_000001.10:g.155210490T>C	(Likely) benign	1 lab	bf5c927638
4:70805761 CSN1S1 C>A	4	70805761	70805761	C	A	CSN1S1	c.299C>A	NM_001890.2	NP_001881.1:p.(Ala100Glu)	NC_000004.11:g.70805761C>A	(Likely) benign	1 lab	bf5e400019
1:200583483 KIF14 T>C	1	200583483	200583483	T	C	KIF14	c.1418A>G	NM_014875.2	NP_055690.1:p.(Asp473Gly)	NC_000001.10:g.200583483T>C	VUS	1 lab	bf5e51f79a
X:150348467 GPR50 C>T	X	150348467	150348467	C	T	GPR50	c.412C>T	NM_004224.3	NP_004215.2:p.(Arg138Trp)	NC_000023.10:g.150348467C>T	VUS	1 lab	bf5e8db658
11:450476 PTDSS2 G>T	11	450476	450476	G	T	PTDSS2	c.21G>T	NM_001329544.1	NP_001316473.1:p.(Arg7Ser)	NC_000011.9:g.450476G>T	(Likely) benign	1 lab	bf60728e84
X:128896726 XPNPEP2 G>A	X	128896726	128896726	G	A	XPNPEP2	c.1720G>A	NM_003399.5	NP_003390.4:p.(Val574Met)	NC_000023.10:g.128896726G>A	VUS	1 lab	bf60e8dbd8
5:13789035 DNAH5 A>G	5	13789035	13789035	A	G	DNAH5	c.8449-12T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13789035A>G	(Likely) benign	1 lab	bf623229f3
16:27460544 IL21R C>T	16	27460544	27460544	C	T	IL21R	c.1623C>T	NM_181079.4	NP_851565.4:p.(Tyr541=)	NC_000016.9:g.27460544C>T	(Likely) benign	1 lab	bf625675f2
7:100680955 MUC17 C>T	7	100680955	100680955	C	T	MUC17	c.6258C>T	NM_001040105.1	NP_001035194.1:p.(Thr2086=)	NC_000007.13:g.100680955C>T	(Likely) benign	1 lab	bf6aaa0849
12:88589233 TMTC3 G>A	12	88589233	88589233	G	A	TMTC3	c.2552G>A	NM_181783.3	NP_861448.2:p.(Gly851Asp)	NC_000012.11:g.88589233G>A	(Likely) benign	1 lab	bf6b936ae9
17:45925777 SP6 C>G	17	45925777	45925777	C	G	SP6	c.19G>C	NM_001258248.2	NP_001245177.1:p.(Gly7Arg)	NC_000017.10:g.45925777C>G	VUS	1 lab	bf6c2fd299
19:45856013 ERCC2 G>A	19	45856013	45856013	G	A	ERCC2	c.1893C>T	NM_000400.3	NP_000391.1:p.(Arg631=)	NC_000019.9:g.45856013G>A	(Likely) benign	1 lab	bf6e032dc4
14:74205953 MIDEAS T>TTGC	14	74205953	74205972	T	TTGC	MIDEAS	c.756_758dup	NM_194278.3	NP_919254.2:p.(Gln253dup)	NC_000014.8:g.74205970_74205972dup	VUS	1 lab	bf6e58c3d0
14:64493373 SYNE2 C>T	14	64493373	64493373	C	T	SYNE2	c.6329C>T	NM_182914.2	NP_878918.2:p.(Pro2110Leu)	NC_000014.8:g.64493373C>T	(Likely) benign	1 lab	bf6f3a14ed
2:61724127 XPO1 T>C	2	61724127	61724127	T	C	XPO1	c.775A>G	NM_003400.3	NP_003391.1:p.(Met259Val)	NC_000002.11:g.61724127T>C	(Likely) benign	1 lab	bf7165b76c
9:80851326 CEP78 GT>G	9	80851326	80851327	GT	G	CEP78	c.61del	NM_001330691.3	NP_001317620.1:p.(Tyr21ThrfsTer39)	NC_000009.11:g.80851327del	(Likely) pathogenic	1 lab	bf75a252b4
2:15374724 NBAS T>A	2	15374724	15374724	T	A	NBAS	c.6091A>T	NM_015909.3	NP_056993.2:p.(Ile2031Phe)	NC_000002.11:g.15374724T>A	VUS	1 lab	bf775b8422
1:220101702 SLC30A10 G>A	1	220101702	220101702	G	A	SLC30A10	c.81C>T	NM_018713.2	NP_061183.2:p.(Val27=)	NC_000001.10:g.220101702G>A	(Likely) benign	1 lab	bf784af897
4:2831538 SH3BP2 G>A	4	2831538	2831538	G	A	SH3BP2	c.989G>A	NM_001145855.2	NP_001139327.1:p.(Ser330Asn)	NC_000004.11:g.2831538G>A	(Likely) benign	1 lab	bf793dfa10
21:35821695 KCNE1 C>T	21	35821695	35821695	C	T	KCNE1				NC_000021.8:g.35821695C>T	(Likely) benign	1 lab	bf7b372fa5
3:46713000 ALS2CL T>C	3	46713000	46713000	T	C	ALS2CL	c.2759A>G	NM_001190707.1	NP_001177636.1:p.(Asp920Gly)	NC_000003.11:g.46713000T>C	VUS	1 lab	bf7b38cb2d
11:124746198 ROBO3 T>A	11	124746198	124746198	T	A	ROBO3	c.2621T>A	NM_022370.3	NP_071765.2:p.(Leu874Gln)	NC_000011.9:g.124746198T>A	(Likely) benign	1 lab	bf7b5f289e
17:6337281 AIPL1 G>A	17	6337281	6337281	G	A	AIPL1	c.234C>T	NM_014336.4	NP_055151.3:p.(Ser78=)	NC_000017.10:g.6337281G>A	(Likely) benign	1 lab	bf7c69091d
17:66538123 FAM20A C>A	17	66538123	66538123	C	A	FAM20A	c.695+3G>T	NM_001243746.1	NP_001230675.1:p.?	NC_000017.10:g.66538123C>A	VUS	1 lab	bf81a2e318
16:88783506 PIEZO1 C>T	16	88783506	88783506	C	T	PIEZO1	c.6585G>A	NM_001142864.4	NP_001136336.2:p.(Ser2195=)	NC_000016.9:g.88783506C>T	(Likely) benign	1 lab	bf828112ad
5:37184974 CPLANE1 C>G	5	37184974	37184974	C	G	CPLANE1	c.4397G>C	NM_023073.3	NP_075561.3:p.(Gly1466Ala)	NC_000005.9:g.37184974C>G	VUS	1 lab	bf82e53e6b
14:105414304 AHNAK2 A>G	14	105414304	105414304	A	G	AHNAK2	c.7484T>C	NM_138420.3	NP_612429.2:p.(Val2495Ala)	NC_000014.8:g.105414304A>G	(Likely) benign	1 lab	bf83397191
2:241535845 CAPN10 C>T	2	241535845	241535845	C	T	CAPN10	c.1388C>T	NM_023083.3	NP_075571.1:p.(Pro463Leu)	NC_000002.11:g.241535845C>T	VUS	1 lab	bf83e5f9e0
9:79814886 VPS13A A>G	9	79814886	79814886	A	G	VPS13A	c.126A>G	NM_033305.2	NP_150648.2:p.(Gln42=)	NC_000009.11:g.79814886A>G	(Likely) benign	1 lab	bf84b46ec0
11:2190928 TH C>T	11	2190928	2190928	C	T	TH	c.357G>A	NM_199292.2	NP_954986.2:p.(Pro119=)	NC_000011.9:g.2190928C>T	(Likely) benign	1 lab	bf85a140f0
X:48896751 TFE3 C>T	X	48896751	48896751	C	T	TFE3	c.415G>A	NM_006521.5	NP_006512.2:p.(Ala139Thr)	NC_000023.10:g.48896751C>T	(Likely) benign	1 lab	bf8980be66
6:42633977 UBR2 G>A	6	42633977	42633977	G	A	UBR2	c.3875G>A	NM_015255.2	NP_056070.1:p.(Arg1292His)	NC_000006.11:g.42633977G>A	(Likely) benign	1 lab	bf89f1018f
X:118586970 SLC25A43 G>A	X	118586970	118586970	G	A	SLC25A43	c.968G>A	NM_145305.2	NP_660348.2:p.(Arg323Gln)	NC_000023.10:g.118586970G>A	(Likely) benign	1 lab	bf8b7e904a
X:69419161 DGAT2L6 C>T	X	69419161	69419161	C	T	DGAT2L6	c.126C>T	NM_198512.2	NP_940914.1:p.(Phe42=)	NC_000023.10:g.69419161C>T	(Likely) benign	1 lab	bf8ba67147
14:88904221 SPATA7 T>C	14	88904221	88904221	T	C	SPATA7	c.1255T>C	NM_018418.4	NP_060888.2:p.(Leu419=)	NC_000014.8:g.88904221T>C	(Likely) benign	1 lab	bf8cd6d6b2
4:187542230 FAT1 T>C	4	187542230	187542230	T	C	FAT1	c.5510A>G	NM_005245.3	NP_005236.2:p.(Tyr1837Cys)	NC_000004.11:g.187542230T>C	VUS	1 lab	bf8f04193c
2:45169464 SIX3 C>G	2	45169464	45169464	C	G	SIX3	c.221C>G	NM_005413.3	NP_005404.1:p.(Pro74Arg)	NC_000002.11:g.45169464C>G	VUS	1 lab	bf8f339f14
3:53223096 PRKCD C>T	3	53223096	53223096	C	T	PRKCD	c.1577C>T	NM_001354680.1	NP_001341609.1:p.(Thr526Ile)	NC_000003.11:g.53223096C>T	VUS	1 lab	bf8f45be99
1:103400015 COL11A1 A>G	1	103400015	103400015	A	G	COL11A1	c.3626T>C	NM_080629.2	NP_542196.2:p.(Ile1209Thr)	NC_000001.10:g.103400015A>G	VUS	1 lab	bf90516117
9:14775890 FREM1 T>C	9	14775890	14775890	T	C	FREM1	c.4754A>G	NM_144966.5	NP_659403.4:p.(Asp1585Gly)	NC_000009.11:g.14775890T>C	VUS	1 lab	bf90e7f90d
11:6662086 DCHS1 C>T	11	6662086	6662086	C	T	DCHS1				NC_000011.9:g.6662086C>T	(Likely) benign	1 lab	bf91e37cbd
15:23891853 MAGEL2 C>A	15	23891853	23891853	C	A	MAGEL2	c.1037G>T	NM_019066.4	NP_061939.3:p.(Arg346Met)	NC_000015.9:g.23891853C>A	VUS	1 lab	bf928f1408
6:56366429 DST C>T	6	56366429	56366429	C	T	DST	c.13272G>A	NM_001144769.2	NP_001138241.1:p.(Glu4424=)	NC_000006.11:g.56366429C>T	(Likely) benign	1 lab	bf93530e14
17:34076131 GAS2L2 G>A	17	34076131	34076131	G	A	GAS2L2	c.733C>T	NM_139285.3	NP_644814.1:p.(Arg245Trp)	NC_000017.10:g.34076131G>A	VUS	1 lab	bf97dbbace
6:116600816 TSPYL1 G>T	6	116600816	116600816	G	T	TSPYL1	c.178C>A	NM_003309.3	NP_003300.1:p.(Pro60Thr)	NC_000006.11:g.116600816G>T	(Likely) benign	1 lab	bf98136f0d
7:70227859 AUTS2 C>A	7	70227859	70227859	C	A	AUTS2	c.746C>A	NM_001127231.2	NP_001120703.1:p.(Pro249Gln)	NC_000007.13:g.70227859C>A	(Likely) benign	1 lab	bf99cdebd9
7:5568267 ACTB A>G	7	5568267	5568267	A	G	ACTB	c.447T>C	NM_001101.3	NP_001092.1:p.(Thr149=)	NC_000007.13:g.5568267A>G	(Likely) benign	1 lab	bf9a317cc8
3:195518067 MUC4 G>T	3	195518067	195518067	G	T	MUC4	c.384C>A	NM_018406.6	NP_060876.5:p.(Thr128=)	NC_000003.11:g.195518067G>T	(Likely) benign	1 lab	bf9b932e92
1:57397497 C8B A>T	1	57397497	57397497	A	T	C8B	c.1451T>A	NM_001278543.1	NP_001265472.1:p.(Val484Asp)	NC_000001.10:g.57397497A>T	(Likely) benign	1 lab	bf9c1d16bf
19:55879643 IL11 G>C	19	55879643	55879643	G	C	IL11	c.364C>G	NM_000641.4	NP_000632.1:p.(Leu122Val)	NC_000019.9:g.55879643G>C	VUS	1 lab	bf9c95f0a8
12:39752123 KIF21A T>A	12	39752123	39752123	T	A	KIF21A	c.1072A>T	NM_001173464.1	NP_001166935.1:p.(Thr358Ser)	NC_000012.11:g.39752123T>A	VUS	1 lab	bf9ef5da11
10:73768136 CHST3 C>T	10	73768136	73768136	C	T	CHST3	c.1347C>T	NM_004273.4	NP_004264.2:p.(Arg449=)	NC_000010.10:g.73768136C>T	(Likely) benign	1 lab	bf9f093f11
2:3628430 RPS7 G>A	2	3628430	3628430	G	A	RPS7	c.543G>A	NM_001011.4	NP_001002.1:p.(Thr181=)	NC_000002.11:g.3628430G>A	(Likely) benign	1 lab	bf9f10ffbd
4:15992903 PROM1 G>A	4	15992903	15992903	G	A	PROM1	c.1898C>T	NM_001145847.1	NP_001139319.1:p.(Pro633Leu)	NC_000004.11:g.15992903G>A	(Likely) benign	1 lab	bfa02fd173
8:72181975 EYA1 C>T	8	72181975	72181975	C	T	EYA1	c.1050G>A	NM_000503.5	NP_000494.2:p.(Arg350=)	NC_000008.10:g.72181975C>T	(Likely) benign	1 lab	bfa0d5fc9d
3:184075798 CLCN2 G>A	3	184075798	184075798	G	A	CLCN2	c.567C>T	NM_004366.5	NP_004357.3:p.(Val189=)	NC_000003.11:g.184075798G>A	(Likely) benign	1 lab	bfa1958dbe
7:100685652 MUC17 C>T	7	100685652	100685652	C	T	MUC17	c.10955C>T	NM_001040105.1	NP_001035194.1:p.(Ala3652Val)	NC_000007.13:g.100685652C>T	(Likely) benign	1 lab	bfa21c0a68
4:126372221 FAT4 G>C	4	126372221	126372221	G	C	FAT4	c.10056G>C	NM_001291303.1	NP_001278232.1:p.(Lys3352Asn)	NC_000004.11:g.126372221G>C	VUS	1 lab	bfa269aa0e
15:89761813 RLBP1 G>A	15	89761813	89761813	G	A	RLBP1	c.124C>T	NM_000326.4	NP_000317.1:p.(Arg42Cys)	NC_000015.9:g.89761813G>A	VUS	1 lab	bfa35c92db
3:48508471 TREX1 T>C	3	48508471	48508471	T	C	TREX1	c.387T>C	NM_007248.4	NP_009179.2:p.(Ala129=)	NC_000003.11:g.48508471T>C	(Likely) benign	1 lab	bfa60ce53e
3:53835451 CACNA1D A>T	3	53835451	53835451	A	T	CACNA1D	c.5467A>T	NM_000720.3	NP_000711.1:p.(Arg1823Ter)	NC_000003.11:g.53835451A>T	VUS	1 lab	bfa61b988c
16:2114428 TSC2 G>A	16	2114428	2114428	G	A	TSC2	c.1599G>A	NM_000548.3	NP_000539.2:p.(Lys533=)	NC_000016.9:g.2114428G>A	(Likely) pathogenic	1 lab	bfa6ec1e30
11:71952332 PHOX2A C>T	11	71952332	71952332	C	T	PHOX2A	c.219G>A	NM_005169.3	NP_005160.2:p.(Val73=)	NC_000011.9:g.71952332C>T	(Likely) benign	1 lab	bfa7018bf5
11:118754668 CXCR5 G>C	11	118754668	118754668	G	C	CXCR5	c.18G>C	NM_001716.4	NP_001707.1:p.(Thr6=)	NC_000011.9:g.118754668G>C	(Likely) benign	1 lab	bfaae0eb1d
9:138642784 KCNT1 G>A	9	138642784	138642784	G	A	KCNT1	c.335-4G>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138642784G>A	(Likely) benign	1 lab	bfab02f407
12:64436610 SRGAP1 G>A	12	64436610	64436610	G	A	SRGAP1	c.530G>A	NM_020762.3	NP_065813.1:p.(Ser177Asn)	NC_000012.11:g.64436610G>A	(Likely) benign	1 lab	bfabb62062
9:2110399 SMARCA2 C>T	9	2110399	2110399	C	T	SMARCA2	c.3438C>T	NM_003070.4	NP_003061.3:p.(Ser1146=)	NC_000009.11:g.2110399C>T	(Likely) benign	1 lab	bfabd82a93
2:166901726 SCN1A T>C	2	166901726	166901726	T	C	SCN1A	c.1489A>G	NM_001202435.2	NP_001189364.1:p.(Arg497Gly)	NC_000002.11:g.166901726T>C	VUS	1 lab	bfac1f273a
2:215845240 ABCA12 G>A	2	215845240	215845240	G	A	ABCA12	c.4707C>T	NM_173076.2	NP_775099.2:p.(Gly1569=)	NC_000002.11:g.215845240G>A	(Likely) benign	1 lab	bfac6b5c5e
15:28447562 HERC2 A>G	15	28447562	28447562	A	G	HERC2	c.7411T>C	NM_004667.5	NP_004658.3:p.(Ser2471Pro)	NC_000015.9:g.28447562A>G	(Likely) benign	1 lab	bfac765cb9
11:74545797 RNF169 G>A	11	74545797	74545797	G	A	RNF169	c.919G>A	NM_001098638.2	NP_001092108.1:p.(Ala307Thr)	NC_000011.9:g.74545797G>A	(Likely) benign	1 lab	bfae90a6f7
19:50099185 PRR12 C>G	19	50099185	50099185	C	G	PRR12	c.1593C>G	NM_020719.2	NP_065770.1:p.(Leu531=)	NC_000019.9:g.50099185C>G	(Likely) benign	1 lab	bfb2e8e751
7:72410447 POM121 T>C	7	72410447	72410447	T	C	POM121	c.708T>C	NM_001257190.2	NP_001244119.1:p.(Ser236=)	NC_000007.13:g.72410447T>C	(Likely) benign	1 lab	bfb48d0f91
17:463696 VPS53 C>T	17	463696	463696	C	T	VPS53	c.1674G>A	NM_001128159.2	NP_001121631.1:p.(Thr558=)	NC_000017.10:g.463696C>T	(Likely) benign	1 lab	bfb5014a2c
7:151873293 KMT2C G>A	7	151873293	151873293	G	A	KMT2C	c.9245C>T	NM_170606.2	NP_733751.2:p.(Pro3082Leu)	NC_000007.13:g.151873293G>A	(Likely) benign	1 lab	bfb5e41dfe
19:45916903 ERCC1 C>T	19	45916903	45916903	C	T	ERCC1	c.875G>A	NM_202001.2	NP_973730.1:p.(Trp292Ter)	NC_000019.9:g.45916903C>T	(Likely) benign	1 lab	bfb8916c85
2:234975231 SPP2 G>A	2	234975231	234975231	G	A	SPP2	c.499G>A	NM_006944.2	NP_008875.1:p.(Gly167Ser)	NC_000002.11:g.234975231G>A	VUS	1 lab	bfbb904abc
1:156126365 SEMA4A G>A	1	156126365	156126365	G	A	SEMA4A	c.3G>A	NM_001193302.1	NP_001180231.1:p.(Met1?)	NC_000001.10:g.156126365G>A	(Likely) pathogenic	1 lab	bfbc324651
21:47614397 LSS G>A	21	47614397	47614397	G	A	LSS	c.1748+8C>T	NM_001145437.1	NP_001138909.1:p.?	NC_000021.8:g.47614397G>A	(Likely) benign	1 lab	bfbe295c30
1:1635574 CDK11A A>G	1	1635574	1635574	A	G	CDK11A	c.1698T>C	NM_024011.3	NP_076916.2:p.(Phe566=)	NC_000001.10:g.1635574A>G	(Likely) benign	1 lab	bfc177b515
11:71806515 LRTOMT A>G	11	71806515	71806515	A	G	LRTOMT	c.528A>G	NM_145309.5	NP_660352.1:p.(Lys176=)	NC_000011.9:g.71806515A>G	(Likely) benign	1 lab	bfc32d5651
19:13397582 CACNA1A C>T	19	13397582	13397582	C	T	CACNA1A	c.3300G>A	NM_023035.2	NP_075461.2:p.(Lys1100=)	NC_000019.9:g.13397582C>T	(Likely) benign	1 lab	bfc3641daa
17:29653013 NF1 T>TA	17	29653013	29653014	T	TA	NF1	c.4949dup	NM_000267.3	NP_000258.1:p.(Tyr1650Ter)	NC_000017.10:g.29653014dup	(Likely) pathogenic	1 lab	bfc3a0c789
5:126158576 LMNB1 C>A	5	126158576	126158576	C	A	LMNB1	c.1490C>A	NM_005573.3	NP_005564.1:p.(Thr497Lys)	NC_000005.9:g.126158576C>A	VUS	1 lab	bfc4bd8175
11:36614855 RAG2 G>A	11	36614855	36614855	G	A	RAG2	c.864C>T	NM_001243786.1	NP_001230715.1:p.(Asn288=)	NC_000011.9:g.36614855G>A	(Likely) benign	1 lab	bfc58b1ac0
11:117267908 CEP164 G>A	11	117267908	117267908	G	A	CEP164	c.3380G>A	NM_014956.4	NP_055771.4:p.(Arg1127Gln)	NC_000011.9:g.117267908G>A	VUS	1 lab	bfc70f2aeb
1:110146723 GNAT2 G>A	1	110146723	110146723	G	A	GNAT2	c.724C>T	NM_005272.3	NP_005263.1:p.(Arg242Cys)	NC_000001.10:g.110146723G>A	VUS	1 lab	bfd03fa111
2:242401979 FARP2 T>G	2	242401979	242401979	T	G	FARP2	c.1629T>G	NM_014808.4	NP_055623.1:p.(Ile543Met)	NC_000002.11:g.242401979T>G	VUS	1 lab	bfd09940b3
15:40916480 KNL1 G>T	15	40916480	40916480	G	T	KNL1	c.4096G>T	NM_170589.4	NP_733468.3:p.(Ala1366Ser)	NC_000015.9:g.40916480G>T	(Likely) benign	1 lab	bfd14f0a6f
5:131080284 FNIP1 C>A	5	131080284	131080284	C	A	FNIP1	c.192G>T	NM_133372.3	NP_588613.3:p.(Lys64Asn)	NC_000005.9:g.131080284C>A	VUS	1 lab	bfd204c525
9:139401346 NOTCH1 G>A	9	139401346	139401346	G	A	NOTCH1	c.3723C>T	NM_017617.5	NP_060087.3:p.(Asn1241=)	NC_000009.11:g.139401346G>A	(Likely) benign	1 lab	bfd62a0ae8
15:72105781 NR2E3 A>G	15	72105781	72105781	A	G	NR2E3	c.800A>G	NM_014249.3	NP_055064.1:p.(Gln267Arg)	NC_000015.9:g.72105781A>G	VUS	1 lab	bfd6bfa867
4:95201895 SMARCAD1 A>C	4	95201895	95201895	A	C	SMARCAD1	c.2577A>C	NM_001128429.2	NP_001121901.1:p.(Arg859=)	NC_000004.11:g.95201895A>C	(Likely) benign	1 lab	bfd8667ced
17:4926994 KIF1C G>A	17	4926994	4926994	G	A	KIF1C	c.2860G>A	NM_006612.5	NP_006603.2:p.(Gly954Ser)	NC_000017.10:g.4926994G>A	(Likely) benign	1 lab	bfd8fe5934
X:46332301 KRABD4 A>C	X	46332301	46332301	A	C	KRABD4	c.370A>C	NM_001129898.2	NP_001123370.1:p.(Arg124=)	NC_000023.10:g.46332301A>C	(Likely) benign	1 lab	bfdb04ff9e
10:74234906 MICU1 G>A	10	74234906	74234906	G	A	MICU1	c.891C>T	NM_006077.3	NP_006068.2:p.(Asn297=)	NC_000010.10:g.74234906G>A	(Likely) benign	1 lab	bfdb6683db
3:12544774 TSEN2 G>T	3	12544774	12544774	G	T	TSEN2	c.322G>T	NM_025265.3	NP_079541.1:p.(Val108Phe)	NC_000003.11:g.12544774G>T	VUS	1 lab	bfdf967017
13:23939337 SACS GTC>G	13	23939337	23939342	GTC	G	SACS	c.423_424del	NM_014363.6	NP_055178.3:p.(Glu141AspfsTer42)	NC_000013.10:g.23939341_23939342del	(Likely) pathogenic	1 lab	bfe085ef77
11:92088310 FAT3 G>A	11	92088310	92088310	G	A	FAT3				NC_000011.9:g.92088310G>A	VUS	1 lab	bfe0a1d77e
17:7489255 MPDU1 T>G	17	7489255	7489255	T	G	MPDU1	c.170-9T>G	NM_004870.3	NP_004861.2:p.?	NC_000017.10:g.7489255T>G	(Likely) benign	1 lab	bfe1dda19d
2:189864073 COL3A1 A>G	2	189864073	189864073	A	G	COL3A1	c.2085A>G	NM_000090.3	NP_000081.1:p.(Arg695=)	NC_000002.11:g.189864073A>G	(Likely) benign	1 lab	bfe20da636
9:35739787 GBA2 C>T	9	35739787	35739787	C	T	GBA2	c.1420G>A	NM_020944.2	NP_065995.1:p.(Ala474Thr)	NC_000009.11:g.35739787C>T	(Likely) benign	1 lab	bfe311bf5c
X:78011149 LPAR4 C>T	X	78011149	78011149	C	T	LPAR4	c.783C>T	NM_005296.2	NP_005287.1:p.(Cys261=)	NC_000023.10:g.78011149C>T	(Likely) benign	1 lab	bfe44836c3
9:27009023 IFT74 A>G	9	27009023	27009023	A	G	IFT74	c.593A>G	NM_001099222.2	NP_001092692.1:p.(Glu198Gly)	NC_000009.11:g.27009023A>G	VUS	1 lab	bfe47c9d91
15:62238585 VPS13C T>G	15	62238585	62238585	T	G	VPS13C	c.4901A>C	NM_001018088.2	NP_001018098.1:p.(Lys1634Thr)	NC_000015.9:g.62238585T>G	(Likely) benign	1 lab	bfe48c85a1
11:76868002 MYO7A C>T	11	76868002	76868002	C	T	MYO7A	c.687C>T	NM_000260.3	NP_000251.3:p.(Gly229=)	NC_000011.9:g.76868002C>T	VUS	1 lab	bfe4f9ee35
16:2130277 TSC2 C>T	16	2130277	2130277	C	T	TSC2	c.3509C>T	NM_001114382.2	NP_001107854.1:p.(Ser1170Leu)	NC_000016.9:g.2130277C>T	VUS	1 lab	bfe6ae25af
X:38144850 RPGR T>G	X	38144850	38144850	T	G	RPGR	c.3402A>C	NM_001034853.1	NP_001030025.1:p.(Pro1134=)	NC_000023.10:g.38144850T>G	(Likely) benign	1 lab	bfe9aed9ab
8:4277552 CSMD1 C>G	8	4277552	4277552	C	G	CSMD1	c.338G>C	NM_033225.6	NP_150094.5:p.(Ser113Thr)	NC_000008.10:g.4277552C>G	VUS	1 lab	bfea320483
9:135786852 TSC1 AGTTATCAGCC>A	9	135786852	135786864	AGTTATCAGCC	A	TSC1	c.1007_1016del	NM_000368.5	NP_000359.1:p.(Arg336LeufsTer17)	NC_000009.11:g.135786855_135786864del	(Likely) pathogenic	1 lab	bfeabe1042
17:29528463 NF1 A>ACT	17	29528463	29528465	A	ACT	NF1	c.1221_1222dup	NM_000267.3	NP_000258.1:p.(Tyr408SerfsTer5)	NC_000017.10:g.29528464_29528465dup	(Likely) pathogenic	1 lab	bfec187207
6:152451909 SYNE1 C>T	6	152451909	152451909	C	T	SYNE1	c.26099G>A	NM_182961.3	NP_892006.3:p.(Arg8700Gln)	NC_000006.11:g.152451909C>T	VUS	1 lab	bfecf99745
X:10181973 CLCN4 C>T	X	10181973	10181973	C	T	CLCN4	c.1829C>T	NM_001830.3	NP_001821.2:p.(Ser610Leu)	NC_000023.10:g.10181973C>T	(Likely) benign	1 lab	bfed32fcee
X:68049004 EFNB1 G>A	X	68049004	68049004	G	A	EFNB1	c.-616G>A	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68049004G>A	(Likely) benign	1 lab	bfef1ef6d0
X:49646005 USP27X C>T	X	49646005	49646005	C	T	USP27X	c.1095C>T	NM_001145073.2	NP_001138545.1:p.(Ser365=)	NC_000023.10:g.49646005C>T	(Likely) benign	1 lab	bff1122deb
6:86200236 NT5E C>G	6	86200236	86200236	C	G	NT5E	c.1221C>G	NM_002526.3	NP_002517.1:p.(Thr407=)	NC_000006.11:g.86200236C>G	(Likely) benign	1 lab	bff25818e9
2:179410701 TTN G>A	2	179410701	179410701	G	A	TTN	c.95262C>T	NM_001267550.1	NP_001254479.1:p.(Asn31754=)	NC_000002.11:g.179410701G>A	(Likely) benign	1 lab	bff258bba2
15:62246761 VPS13C G>T	15	62246761	62246761	G	T	VPS13C	c.4166-8C>A	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62246761G>T	(Likely) benign	1 lab	bff2c5254d
22:42608240 TCF20 T>C	22	42608240	42608240	T	C	TCF20	c.3072A>G	NM_005650.3	NP_005641.1:p.(Arg1024=)	NC_000022.10:g.42608240T>C	(Likely) benign	1 lab	bff468e9ad
2:179436796 TTN C>T	2	179436796	179436796	C	T	TTN	c.74063G>A	NM_001267550.1	NP_001254479.1:p.(Arg24688His)	NC_000002.11:g.179436796C>T	VUS	1 lab	bff475397c
12:111907981 ATXN2 C>T	12	111907981	111907981	C	T	ATXN2	c.3247G>A	NM_002973.3	NP_002964.3:p.(Ala1083Thr)	NC_000012.11:g.111907981C>T	VUS	1 lab	bff4ad93fe
X:105450455 PWWP3B G>T	X	105450455	105450455	G	T	PWWP3B	c.1030G>T	NM_152423.4	NP_689636.3:p.(Asp344Tyr)	NC_000023.10:g.105450455G>T	VUS	1 lab	bff538b136
11:118963971 HMBS G>A	11	118963971	118963971	G	A	HMBS	c.1064G>A	NM_000190.4	NP_000181.2:p.(Arg355Gln)	NC_000011.9:g.118963971G>A	VUS	1 lab	bff7290d8c
6:116953381 RSPH4A A>T	6	116953381	116953381	A	T	RSPH4A	c.1928A>T	NM_001010892.2	NP_001010892.1:p.(Asn643Ile)	NC_000006.11:g.116953381A>T	VUS	1 lab	bff8a7fe23
8:6500501 MCPH1 C>T	8	6500501	6500501	C	T	MCPH1	c.2453-14C>T	NM_024596.4	NP_078872.2:p.?	NC_000008.10:g.6500501C>T	(Likely) benign	1 lab	bffa091476
2:179642300 TTN C>A	2	179642300	179642300	C	A	TTN	c.4492G>T	NM_001267550.1	NP_001254479.1:p.(Val1498Phe)	NC_000002.11:g.179642300C>A	VUS	1 lab	bffbad1dfe
5:13769649 DNAH5 T>C	5	13769649	13769649	T	C	DNAH5	c.9681A>G	NM_001369.2	NP_001360.1:p.(Lys3227=)	NC_000005.9:g.13769649T>C	(Likely) benign	1 lab	bffd8e3fc2
10:124787118 ACADSB G>A	10	124787118	124787118	G	A	ACADSB	c.43-6754G>A	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124787118G>A	(Likely) benign	1 lab	bffe0b3e07
1:207109157 PIGR G>A	1	207109157	207109157	G	A	PIGR	c.1052C>T	NM_002644.3	NP_002635.2:p.(Thr351Met)	NC_000001.10:g.207109157G>A	(Likely) benign	1 lab	c000de0155
12:31253638 DDX11 TGTG>T	12	31253638	31253644	TGTG	T	DDX11	c.1948+1_1948+3del	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31253642_31253644del	VUS	1 lab	c00226a83e
11:86097101 CCDC81 A>G	11	86097101	86097101	A	G	CCDC81	c.88A>G	NM_001156474.2	NP_001149946.1:p.(Ile30Val)	NC_000011.9:g.86097101A>G	(Likely) benign	1 lab	c004a6dbce
17:29663880 NF1 G>A	17	29663880	29663880	G	A	NF1	c.6312G>A	NM_000267.3	NP_000258.1:p.(Leu2104=)	NC_000017.10:g.29663880G>A	(Likely) benign	1 lab	c005e60302
19:13409771 CACNA1A G>A	19	13409771	13409771	G	A	CACNA1A	c.2688C>T	NM_023035.2	NP_075461.2:p.(Ser896=)	NC_000019.9:g.13409771G>A	(Likely) benign	1 lab	c00912a0c0
17:1265304 YWHAE T>TA	17	1265304	1265317	T	TA	YWHAE	c.265-3dup	NM_006761.4	NP_006752.1:p.?	NC_000017.10:g.1265317dup	(Likely) benign	1 lab	c00ae0397b
17:19605956 SLC47A2 G>A	17	19605956	19605956	G	A	SLC47A2	c.1234C>T	NM_152908.3	NP_690872.2:p.(Pro412Ser)	NC_000017.10:g.19605956G>A	(Likely) benign	1 lab	c00c0bdfdc
11:108188039 ATM C>G	11	108188039	108188039	C	G	ATM	c.6199-61C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108188039C>G	(Likely) benign	1 lab	52969e0b73
22:27012255 CRYBB1 G>A	22	27012255	27012255	G	A	CRYBB1	c.29C>T	NM_001887.4	NP_001878.1:p.(Ser10Leu)	NC_000022.10:g.27012255G>A	(Likely) benign	1 lab	c00c31584d
X:153171434 AVPR2 G>A	X	153171434	153171434	G	A	AVPR2	c.474G>A	NM_001146151.2	NP_001139623.1:p.(Arg158=)	NC_000023.10:g.153171434G>A	(Likely) benign	1 lab	c00ce59e06
22:19951103 COMT G>A	22	19951103	19951103	G	A	COMT	c.304G>A	NM_000754.3	NP_000745.1:p.(Ala102Thr)	NC_000022.10:g.19951103G>A	(Likely) benign	1 lab	c00ead703a
12:124829474 NCOR2 G>A	12	124829474	124829474	G	A	NCOR2	c.4383C>T	NM_006312.5	NP_006303.4:p.(Thr1461=)	NC_000012.11:g.124829474G>A	(Likely) benign	1 lab	c00efcbede
X:135326952 MAP7D3 T>C	X	135326952	135326952	T	C	MAP7D3	c.256A>G	NM_001173517.1	NP_001166988.1:p.(Asn86Asp)	NC_000023.10:g.135326952T>C	(Likely) benign	1 lab	c00f5bb59b
3:52366211 DNAH1 T>C	3	52366211	52366211	T	C	DNAH1	c.1087T>C	NM_015512.4	NP_056327.4:p.(Phe363Leu)	NC_000003.11:g.52366211T>C	(Likely) benign	1 lab	c01245e21e
12:49446770 KMT2D T>C	12	49446770	49446770	T	C	KMT2D	c.1040A>G	NM_003482.3	NP_003473.3:p.(His347Arg)	NC_000012.11:g.49446770T>C	VUS	1 lab	c0130cd3f5
16:16267233 ABCC6 G>A	16	16267233	16267233	G	A	ABCC6	c.2353C>T	NM_001351800.1	NP_001338729.1:p.(Arg785Cys)	NC_000016.9:g.16267233G>A	VUS	1 lab	c0138905a3
5:40936498 C7 T>C	5	40936498	40936498	T	C	C7	c.339T>C	NM_000587.2	NP_000578.2:p.(Ser113=)	NC_000005.9:g.40936498T>C	(Likely) benign	1 lab	c014887c45
3:159998447 IFT80 A>G	3	159998447	159998447	A	G	IFT80	c.1664+8T>C	NM_020800.2	NP_065851.1:p.?	NC_000003.11:g.159998447A>G	(Likely) benign	1 lab	c014e35acd
2:55195386 EML6 A>T	2	55195386	55195386	A	T	EML6	c.5720A>T	NM_001039753.2	NP_001034842.2:p.(Lys1907Met)	NC_000002.11:g.55195386A>T	VUS	1 lab	c0156c108b
16:2367685 ABCA3 G>A	16	2367685	2367685	G	A	ABCA3	c.954C>T	NM_001089.2	NP_001080.2:p.(Ile318=)	NC_000016.9:g.2367685G>A	(Likely) benign	1 lab	c016872e83
10:102748598 TWNK C>G	10	102748598	102748598	C	G	TWNK	c.631C>G	NM_001163812.1	NP_001157284.1:p.(Pro211Ala)	NC_000010.10:g.102748598C>G	(Likely) benign	1 lab	c017a0bb17
1:120464366 NOTCH2 A>G	1	120464366	120464366	A	G	NOTCH2	c.5280T>C	NM_024408.3	NP_077719.2:p.(Asp1760=)	NC_000001.10:g.120464366A>G	(Likely) benign	1 lab	c017d328df
20:18446024 DZANK1 C>CTCTA	20	18446024	18446026	C	CTCTA	DZANK1	c.7-2_7-1insTAGA	NM_001351683.1	NP_001338612.1:p.?	NC_000020.10:g.18446025_18446026insCTAT	VUS	1 lab	c0183ff7f7
19:12866266 BEST2 C>T	19	12866266	12866266	C	T	BEST2	c.710C>T	NM_017682.2	NP_060152.2:p.(Thr237Met)	NC_000019.9:g.12866266C>T	VUS	1 lab	c01c4e3c32
2:179480210 TTN C>T	2	179480210	179480210	C	T	TTN	c.48462G>A	NM_001267550.1	NP_001254479.1:p.(Thr16154=)	NC_000002.11:g.179480210C>T	(Likely) benign	1 lab	c01cd46241
19:9071969 MUC16 A>C	19	9071969	9071969	A	C	MUC16	c.15477T>G	NM_024690.2	NP_078966.2:p.(Thr5159=)	NC_000019.9:g.9071969A>C	(Likely) benign	1 lab	c01da1fa0c
X:57313398 FAAH2 C>G	X	57313398	57313398	C	G	FAAH2	c.140C>G	NM_174912.3	NP_777572.2:p.(Pro47Arg)	NC_000023.10:g.57313398C>G	(Likely) benign	1 lab	c01e7da658
9:34649544 GALT G>A	9	34649544	34649544	G	A	GALT	c.1042G>A	NM_000155.3	NP_000146.2:p.(Asp348Asn)	NC_000009.11:g.34649544G>A	(Likely) pathogenic	1 lab	c0207442d9
19:35719099 FAM187B C>T	19	35719099	35719099	C	T	FAM187B	c.485G>A	NM_152481.1	NP_689694.1:p.(Arg162His)	NC_000019.9:g.35719099C>T	VUS	1 lab	c020b768a5
11:6589289 DNHD1 C>T	11	6589289	6589289	C	T	DNHD1	c.12355C>T	NM_144666.2	NP_653267.2:p.(Gln4119Ter)	NC_000011.9:g.6589289C>T	VUS	1 lab	c020d96086
1:186057846 HMCN1 T>C	1	186057846	186057846	T	C	HMCN1	c.9686T>C	NM_031935.2	NP_114141.2:p.(Met3229Thr)	NC_000001.10:g.186057846T>C	(Likely) benign	1 lab	c023ba5602
1:178822067 ANGPTL1 C>T	1	178822067	178822067	C	T	ANGPTL1	c.1039G>A	NM_004673.4	NP_004664.1:p.(Gly347Arg)	NC_000001.10:g.178822067C>T	VUS	1 lab	c02613be4b
X:114426139 RBMXL3 G>A	X	114426139	114426139	G	A	RBMXL3	c.2135G>A	NM_001145346.1	NP_001138818.1:p.(Arg712Gln)	NC_000023.10:g.114426139G>A	(Likely) benign	1 lab	c0272c9b40
1:22030033 USP48 T>C	1	22030033	22030033	T	C	USP48	c.2594A>G	NM_032236.7	NP_115612.4:p.(Tyr865Cys)	NC_000001.10:g.22030033T>C	VUS	1 lab	c02816a80c
1:24418697 MYOM3 C>T	1	24418697	24418697	C	T	MYOM3	c.1199G>A	NM_152372.4	NP_689585.3:p.(Arg400Gln)	NC_000001.10:g.24418697C>T	VUS	1 lab	c028acff35
6:32814964 TAP1 T>C	6	32814964	32814964	T	C	TAP1	c.2101A>G	NM_000593.5	NP_000584.2:p.(Ser701Gly)	NC_000006.11:g.32814964T>C	(Likely) benign	1 lab	c02aaa210d
17:4924146 KIF1C C>T	17	4924146	4924146	C	T	KIF1C	c.1983C>T	NM_006612.5	NP_006603.2:p.(Ala661=)	NC_000017.10:g.4924146C>T	(Likely) benign	1 lab	c02ab94628
3:37090045 MLH1 A>G	3	37090045	37090045	A	G	MLH1	c.1934A>G	NM_000249.3	NP_000240.1:p.(Asn645Ser)	NC_000003.11:g.37090045A>G	VUS	1 lab	c02ba70e1a
5:14487852 TRIO C>T	5	14487852	14487852	C	T	TRIO	c.7115C>T	NM_007118.3	NP_009049.2:p.(Pro2372Leu)	NC_000005.9:g.14487852C>T	(Likely) benign	1 lab	c02d406ad7
11:47371484 MYBPC3 A>AG	11	47371484	47371488	A	AG	MYBPC3	c.506-12dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371488dup	(Likely) benign	1 lab	c02e659c7e
19:50368361 PNKP T>A	19	50368361	50368361	T	A	PNKP	c.498+23A>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50368361T>A	(Likely) benign	1 lab	c0309f7f80
X:153137707 L1CAM G>C	X	153137707	153137707	G	C	L1CAM	c.300C>G	NM_001278116.1	NP_001265045.1:p.(Asn100Lys)	NC_000023.10:g.153137707G>C	VUS	1 lab	c03309a8c6
X:49142717 PPP1R3F C>T	X	49142717	49142717	C	T	PPP1R3F	c.1565C>T	NM_033215.4	NP_149992.3:p.(Pro522Leu)	NC_000023.10:g.49142717C>T	(Likely) benign	1 lab	c0344696c2
4:113574284 LARP7 G>A	4	113574284	113574284	G	A	LARP7	c.1489G>A	NM_001267039.1	NP_001253968.1:p.(Asp497Asn)	NC_000004.11:g.113574284G>A	VUS	1 lab	c03817028d
20:25062701 VSX1 C>T	20	25062701	25062701	C	T	VSX1	c.32G>A	NM_001256272.1	NP_001243201.1:p.(Arg11His)	NC_000020.10:g.25062701C>T	VUS	1 lab	c039de46d3
15:85400567 ALPK3 G>C	15	85400567	85400567	G	C	ALPK3	c.3204G>C	NM_020778.4	NP_065829.3:p.(Thr1068=)	NC_000015.9:g.85400567G>C	(Likely) benign	1 lab	c03ad8e3c8
17:29652960 NF1 G>A	17	29652960	29652960	G	A	NF1	c.4895G>A	NM_000267.3	NP_000258.1:p.(Arg1632His)	NC_000017.10:g.29652960G>A	(Likely) benign	1 lab	c03f4d82ac
4:15599052 CC2D2A G>A	4	15599052	15599052	G	A	CC2D2A	c.4460G>A	NM_001080522.2	NP_001073991.2:p.(Arg1487His)	NC_000004.11:g.15599052G>A	(Likely) benign	1 lab	c03ff9c7d5
7:24756983 GSDME G>A	7	24756983	24756983	G	A	GSDME	c.587C>T	NM_004403.2	NP_004394.1:p.(Thr196Met)	NC_000007.13:g.24756983G>A	(Likely) benign	1 lab	c040f54bac
19:7606511 PNPLA6 C>T	19	7606511	7606511	C	T	PNPLA6	c.1136C>T	NM_001166111.1	NP_001159583.1:p.(Pro379Leu)	NC_000019.9:g.7606511C>T	(Likely) benign	1 lab	c0431f3c70
6:152651968 SYNE1 G>T	6	152651968	152651968	G	T	SYNE1	c.13852C>A	NM_182961.3	NP_892006.3:p.(Leu4618Ile)	NC_000006.11:g.152651968G>T	VUS	1 lab	c044734bfe
3:38349091 SLC22A14 C>T	3	38349091	38349091	C	T	SLC22A14	c.655C>T	NM_004803.4	NP_004794.2:p.(Leu219=)	NC_000003.11:g.38349091C>T	(Likely) benign	1 lab	c045129f17
2:86257382 POLR1A G>A	2	86257382	86257382	G	A	POLR1A	c.4716C>T	NM_015425.5	NP_056240.2:p.(Asn1572=)	NC_000002.11:g.86257382G>A	(Likely) benign	1 lab	c04521cf74
6:109787460 ZBTB24 A>G	6	109787460	109787460	A	G	ZBTB24	c.1688T>C	NM_014797.2	NP_055612.2:p.(Ile563Thr)	NC_000006.11:g.109787460A>G	VUS	1 lab	c047cc5f66
12:7188338 LOC127823562 C>T	12	7188338	7188338	C	T	LOC127823562				NC_000012.11:g.7188338C>T	VUS	1 lab	c04a0b0fcf
8:6296618 MCPH1 G>A	8	6296618	6296618	G	A	MCPH1	c.580+1G>A	NM_001322042.1	NP_001308971.1:p.?	NC_000008.10:g.6296618G>A	(Likely) pathogenic	1 lab	c04a5abb9e
14:93125521 RIN3 C>G	14	93125521	93125521	C	G	RIN3	c.2042C>G	NM_024832.5	NP_079108.3:p.(Ser681Cys)	NC_000014.8:g.93125521C>G	VUS	1 lab	c04ec9d4bc
6:157502276 ARID1B C>T	6	157502276	157502276	C	T	ARID1B	c.3309C>T	NM_020732.3	NP_065783.3:p.(Leu1103=)	NC_000006.11:g.157502276C>T	(Likely) benign	1 lab	c052592b64
2:87017731 CD8A C>T	2	87017731	87017731	C	T	CD8A	c.123G>A	NM_001145873.1	NP_001139345.1:p.(Leu41=)	NC_000002.11:g.87017731C>T	(Likely) benign	1 lab	c052ebd5bc
7:107575872 LAMB1 G>A	7	107575872	107575872	G	A	LAMB1	c.4176C>T	NM_002291.2	NP_002282.2:p.(Ala1392=)	NC_000007.13:g.107575872G>A	(Likely) benign	1 lab	c0534bcff6
16:87445750 ZCCHC14 C>T	16	87445750	87445750	C	T	ZCCHC14	c.2166G>A	NM_015144.2	NP_055959.1:p.(Thr722=)	NC_000016.9:g.87445750C>T	(Likely) benign	1 lab	c053f060ad
7:103629739 RELN C>T	7	103629739	103629739	C	T	RELN	c.65G>A	NM_173054.2	NP_774959.1:p.(Arg22Lys)	NC_000007.13:g.103629739C>T	(Likely) benign	1 lab	c05536a769
4:123113394 BLTP1 G>A	4	123113394	123113394	G	A	BLTP1	c.912G>A	NM_015312.3	NP_056127.2:p.(Pro304=)	NC_000004.11:g.123113394G>A	(Likely) benign	1 lab	c0564cb737
20:31374350 DNMT3B C>T	20	31374350	31374350	C	T	DNMT3B	c.349C>T	NM_006892.3	NP_008823.1:p.(His117Tyr)	NC_000020.10:g.31374350C>T	VUS	1 lab	c0578f9331
2:179432905 TTN T>G	2	179432905	179432905	T	G	TTN	c.77954A>C	NM_001267550.1	NP_001254479.1:p.(Gln25985Pro)	NC_000002.11:g.179432905T>G	VUS	1 lab	c05a71ed4f
2:88874736 EIF2AK3 C>G	2	88874736	88874736	C	G	EIF2AK3	c.2265G>C	NM_004836.6	NP_004827.4:p.(Val755=)	NC_000002.11:g.88874736C>G	(Likely) benign	1 lab	c05b214778
3:10191508 VHL G>GTTGTCCGT	3	10191508	10191509	G	GTTGTCCGT	VHL	c.501_502insTTGTCCGT	NM_000551.3	NP_000542.1:p.(Ser168LeufsTer5)	NC_000003.11:g.10191508_10191509insTTGTCCGT	(Likely) pathogenic	1 lab	c05b4d2973
X:153060187 SSR4 G>C	X	153060187	153060187	G	C	SSR4	c.69G>C	NM_001204527.1	NP_001191456.1:p.(Leu23=)	NC_000023.10:g.153060187G>C	(Likely) benign	1 lab	c05c5b7fb7
2:172314577 DCAF17 G>A	2	172314577	172314577	G	A	DCAF17	c.724G>A	NM_025000.3	NP_079276.2:p.(Ala242Thr)	NC_000002.11:g.172314577G>A	(Likely) benign	1 lab	c05f03da61
15:66996167 SMAD6 C>G	15	66996167	66996167	C	G	SMAD6	c.571C>G	NM_005585.4	NP_005576.3:p.(Leu191Val)	NC_000015.9:g.66996167C>G	VUS	1 lab	c05f8a84fe
17:29550474 NF1 T>C	17	29550474	29550474	T	C	NF1	c.1734T>C	NM_000267.3	NP_000258.1:p.(Leu578=)	NC_000017.10:g.29550474T>C	(Likely) benign	1 lab	c05fd458b8
5:133450773 TCF7 C>A	5	133450773	133450773	C	A	TCF7	c.176C>A	NM_001346425.1	NP_001333354.1:p.(Ser59Tyr)	NC_000005.9:g.133450773C>A	VUS	1 lab	c06000ec97
19:17449510 GTPBP3 T>G	19	17449510	17449510	T	G	GTPBP3	c.551T>G	NM_133644.3	NP_598399.2:p.(Leu184Arg)	NC_000019.9:g.17449510T>G	VUS	1 lab	c060854754
16:57789088 KATNB1 C>T	16	57789088	57789088	C	T	KATNB1	c.1354C>T	NM_005886.2	NP_005877.2:p.(Pro452Ser)	NC_000016.9:g.57789088C>T	VUS	1 lab	c061f22d0d
3:9506106 SETD5 CAG>C	3	9506106	9506109	CAG	C	SETD5	c.2477-1_2477del	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9506108_9506109del	(Likely) pathogenic	1 lab	c062a36b7e
16:51175852 SALL1 G>A	16	51175852	51175852	G	A	SALL1	c.281C>T	NM_002968.2	NP_002959.2:p.(Pro94Leu)	NC_000016.9:g.51175852G>A	VUS	1 lab	c062d499f1
X:69503407 RAB41 C>T	X	69503407	69503407	C	T	RAB41	c.385C>T	NM_001032726.2	NP_001027898.2:p.(Arg129Ter)	NC_000023.10:g.69503407C>T	VUS	1 lab	c063cf258b
2:179579866 TTN G>A	2	179579866	179579866	G	A	TTN	c.26047C>T	NM_001267550.1	NP_001254479.1:p.(Leu8683Phe)	NC_000002.11:g.179579866G>A	VUS	1 lab	c063f7b343
20:31017119 ASXL1 T>C	20	31017119	31017119	T	C	ASXL1	c.472-22T>C	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.31017119T>C	(Likely) benign	1 lab	c065901464
11:121008583 TECTA G>A	11	121008583	121008583	G	A	TECTA	c.3395G>A	NM_005422.2	NP_005413.2:p.(Arg1132Lys)	NC_000011.9:g.121008583G>A	VUS	1 lab	c066b39373
16:53690401 RPGRIP1L C>T	16	53690401	53690401	C	T	RPGRIP1L	c.1682G>A	NM_015272.4	NP_056087.2:p.(Arg561His)	NC_000016.9:g.53690401C>T	VUS	1 lab	c06ab652a8
2:209216137 PIKFYVE A>G	2	209216137	209216137	A	G	PIKFYVE	c.5673A>G	NM_015040.3	NP_055855.2:p.(Ala1891=)	NC_000002.11:g.209216137A>G	(Likely) benign	1 lab	c06ca8a2aa
21:47860054 PCNT G>A	21	47860054	47860054	G	A	PCNT	c.9332G>A	NM_006031.5	NP_006022.3:p.(Arg3111His)	NC_000021.8:g.47860054G>A	VUS	1 lab	c06caa4e48
22:32889178 FBXO7 G>A	22	32889178	32889178	G	A	FBXO7	c.1054G>A	NM_012179.3	NP_036311.3:p.(Val352Ile)	NC_000022.10:g.32889178G>A	(Likely) benign	1 lab	c07020b57d
16:48120711 ABCC12 C>T	16	48120711	48120711	C	T	ABCC12	c.3655G>A	NM_033226.2	NP_150229.2:p.(Glu1219Lys)	NC_000016.9:g.48120711C>T	(Likely) benign	1 lab	c070537f7e
2:179449486 TTN G>A	2	179449486	179449486	G	A	TTN	c.64882C>T	NM_001267550.1	NP_001254479.1:p.(Gln21628Ter)	NC_000002.11:g.179449486G>A	(Likely) pathogenic	1 lab	c070a746f6
16:2132517 TSC2 CAG>C	16	2132517	2132521	CAG	C	TSC2	c.3883+15_3883+16del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2132520_2132521del	(Likely) benign	1 lab	c07142dc1a
10:105815583 COL17A1 G>A	10	105815583	105815583	G	A	COL17A1	c.1644C>T	NM_000494.4	NP_000485.3:p.(Leu548=)	NC_000010.10:g.105815583G>A	(Likely) benign	1 lab	c0715287e7
5:135549186 TRPC7 G>A	5	135549186	135549186	G	A	TRPC7	c.2526C>T	NM_020389.2	NP_065122.1:p.(Ser842=)	NC_000005.9:g.135549186G>A	(Likely) benign	1 lab	c072268f00
20:10621857 JAG1 CCTCAATTCACTGCAAATGTG>C	20	10621857	10621880	CCTCAATTCACTGCAAATGTG	C	JAG1	c.2932_2951del	NM_000214.3	NP_000205.1:p.(His978GlufsTer11)	NC_000020.10:g.10621861_10621880del	(Likely) pathogenic	1 lab	c0750a2167
16:2114336 TSC2 CA>C	16	2114336	2114337	CA	C	TSC2	c.1508del	NM_000548.5	NP_000539.2:p.(Gln503ArgfsTer32)	NC_000016.9:g.2114337del	(Likely) pathogenic	1 lab	c0761ea58c
2:241079728 OTOS C>T	2	241079728	241079728	C	T	OTOS	c.16G>A	NM_148961.4	NP_683764.1:p.(Val6Met)	NC_000002.11:g.241079728C>T	(Likely) benign	1 lab	c076344ae7
2:108499307 RGPD4 A>G	2	108499307	108499307	A	G	RGPD4	c.5244A>G	NM_182588.2	NP_872394.2:p.(Gly1748=)	NC_000002.11:g.108499307A>G	(Likely) benign	1 lab	c076acd216
9:131260796 ODF2 G>A	9	131260796	131260796	G	A	ODF2	c.2045G>A	NM_002540.4	NP_002531.3:p.(Arg682Gln)	NC_000009.11:g.131260796G>A	VUS	1 lab	c07790e439
5:90074700 ADGRV1 C>T	5	90074700	90074700	C	T	ADGRV1	c.12868C>T	NM_032119.4	NP_115495.3:p.(Arg4290Cys)	NC_000005.9:g.90074700C>T	VUS	1 lab	c078718191
11:1267550 MUC5B C>G	11	1267550	1267550	C	G	MUC5B	c.9440C>G	NM_002458.2	NP_002449.2:p.(Ala3147Gly)	NC_000011.9:g.1267550C>G	(Likely) benign	1 lab	c07ae76738
13:60453423 DIAPH3 GT>G	13	60453423	60453424	GT	G	DIAPH3	c.2546del	NM_001042517.2	NP_001035982.1:p.(Tyr849SerfsTer2)	NC_000013.10:g.60453424del	(Likely) pathogenic	1 lab	c07b30b574
21:46825136 COL18A1 TG>T	21	46825136	46825140	TG	T	COL18A1	c.-6del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46825140del	(Likely) benign	1 lab	c07c0de289
X:40465004 ATP6AP2 T>C	X	40465004	40465004	T	C	ATP6AP2	c.1050T>C	NM_005765.2	NP_005756.2:p.(Asp350=)	NC_000023.10:g.40465004T>C	(Likely) benign	1 lab	c07dc7a226
14:105410946 AHNAK2 C>T	14	105410946	105410946	C	T	AHNAK2	c.10842G>A	NM_138420.3	NP_612429.2:p.(Lys3614=)	NC_000014.8:g.105410946C>T	(Likely) benign	1 lab	c07ec42db0
17:76521225 DNAH17 C>T	17	76521225	76521225	C	T	DNAH17	c.3730G>A	NM_173628.3	NP_775899.3:p.(Ala1244Thr)	NC_000017.10:g.76521225C>T	(Likely) benign	1 lab	c07ecd68e0
14:24040435 JPH4 G>GC	14	24040435	24040444	G	GC	JPH4	c.1504dup	NM_032452.2	NP_115828.2:p.(Ala502GlyfsTer12)	NC_000014.8:g.24040444dup	VUS	1 lab	c07f943dcf
19:45855917 ERCC2 C>T	19	45855917	45855917	C	T	ERCC2	c.1903-10G>A	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45855917C>T	VUS	1 lab	c0802466c0
12:83251314 TMTC2 C>T	12	83251314	83251314	C	T	TMTC2	c.609C>T	NM_152588.3	NP_689801.1:p.(Val203=)	NC_000012.11:g.83251314C>T	(Likely) benign	1 lab	c080b002f9
1:97771841 DPYD C>A	1	97771841	97771841	C	A	DPYD	c.2071G>T	NM_000110.3	NP_000101.2:p.(Val691Leu)	NC_000001.10:g.97771841C>A	VUS	1 lab	c081d10774
2:47601068 EPCAM C>T	2	47601068	47601068	C	T	EPCAM	c.306C>T	NM_002354.2	NP_002345.2:p.(Ser102=)	NC_000002.11:g.47601068C>T	(Likely) benign	1 lab	c082ec2bbc
22:40814497 MRTFA G>T	22	40814497	40814497	G	T	MRTFA				NC_000022.10:g.40814497G>T	(Likely) benign	1 lab	c083759142
7:121716595 AASS C>T	7	121716595	121716595	C	T	AASS	c.2729G>A	NM_005763.3	NP_005754.2:p.(Arg910Gln)	NC_000007.13:g.121716595C>T	(Likely) benign	1 lab	c084dbbcc7
15:51741314 DMXL2 A>G	15	51741314	51741314	A	G	DMXL2	c.8981T>C	NM_001174116.1	NP_001167587.1:p.(Ile2994Thr)	NC_000015.9:g.51741314A>G	(Likely) benign	1 lab	c084f6ee68
12:133197157 P2RX2 G>A	12	133197157	133197157	G	A	P2RX2	c.655G>A	NM_001282164.1	NP_001269093.1:p.(Ala219Thr)	NC_000012.11:g.133197157G>A	(Likely) benign	1 lab	c0953a5b98
3:118948804 B4GALT4 A>G	3	118948804	118948804	A	G	B4GALT4	c.143T>C	NM_212543.1	NP_997708.1:p.(Met48Thr)	NC_000003.11:g.118948804A>G	(Likely) benign	1 lab	c086294b8b
7:2566807 LFNG C>T	7	2566807	2566807	C	T	LFNG	c.1101C>T	NM_001040167.2	NP_001035257.1:p.(Tyr367=)	NC_000007.13:g.2566807C>T	(Likely) benign	1 lab	c08c731ea0
2:179447162 TTN A>G	2	179447162	179447162	A	G	TTN	c.66021T>C	NM_001267550.1	NP_001254479.1:p.(Ser22007=)	NC_000002.11:g.179447162A>G	(Likely) benign	1 lab	c08c892498
17:40117181 ODAD4 C>T	17	40117181	40117181	C	T	ODAD4	c.1699C>T	NM_031421.5	NP_113609.1:p.(Gln567Ter)	NC_000017.10:g.40117181C>T	VUS	1 lab	c08d21be85
1:150531133 ADAMTSL4 C>T	1	150531133	150531133	C	T	ADAMTSL4	c.2567C>T	NM_025008.4	NP_079284.2:p.(Pro856Leu)	NC_000001.10:g.150531133C>T	VUS	1 lab	c08d7e8b4d
1:6649211 ZBTB48 C>T	1	6649211	6649211	C	T	ZBTB48	c.2006C>T	NM_005341.4	NP_005332.1:p.(Pro669Leu)	NC_000001.10:g.6649211C>T	(Likely) benign	1 lab	c08feae3f8
15:58840756 LIPC C>T	15	58840756	58840756	C	T	LIPC	c.1036C>T	NM_000236.2	NP_000227.2:p.(Gln346Ter)	NC_000015.9:g.58840756C>T	VUS	1 lab	c09074167d
3:148895648 CP G>A	3	148895648	148895648	G	A	CP	c.2997C>T	NM_000096.3	NP_000087.1:p.(His999=)	NC_000003.11:g.148895648G>A	(Likely) benign	1 lab	c090bd4b2b
7:74191648 NCF1 G>A	7	74191648	74191648	G	A	NCF1	c.108G>A	NM_000265.5	NP_000256.4:p.(Ser36=)	NC_000007.13:g.74191648G>A	(Likely) benign	1 lab	c09183ccd4
22:32239163 DEPDC5 G>A	22	32239163	32239163	G	A	DEPDC5	c.2598G>A	NM_001242896.2	NP_001229825.1:p.(Lys866=)	NC_000022.10:g.32239163G>A	(Likely) benign	1 lab	c0965451bf
4:1656935 FAM53A T>G	4	1656935	1656935	T	G	FAM53A	c.652A>C	NM_001297435.1	NP_001284364.1:p.(Thr218Pro)	NC_000004.11:g.1656935T>G	(Likely) benign	1 lab	c096dc6e5a
19:13106668 NFIX G>A	19	13106668	13106668	G	A	NFIX				NC_000019.9:g.13106668G>A	VUS	1 lab	c097afe016
2:170344494 BBS5 C>T	2	170344494	170344494	C	T	BBS5	c.259-3C>T	NM_152384.2	NP_689597.1:p.?	NC_000002.11:g.170344494C>T	(Likely) benign	1 lab	c09907007e
22:50678789 TUBGCP6 G>A	22	50678789	50678789	G	A	TUBGCP6	c.749C>T	NM_020461.3	NP_065194.2:p.(Pro250Leu)	NC_000022.10:g.50678789G>A	(Likely) benign	1 lab	c0999e16e0
14:94772561 SERPINA6 C>T	14	94772561	94772561	C	T	SERPINA6	c.885-6G>A	NM_001756.3	NP_001747.2:p.?	NC_000014.8:g.94772561C>T	(Likely) benign	1 lab	c09a124423
11:62298088 AHNAK G>A	11	62298088	62298088	G	A	AHNAK	c.3801C>T	NM_001620.2	NP_001611.1:p.(Phe1267=)	NC_000011.9:g.62298088G>A	(Likely) benign	1 lab	c0a06c041f
16:84183964 DNAAF1 G>C	16	84183964	84183964	G	C	DNAAF1	c.352+17G>C	NM_178452.5	NP_848547.4:p.?	NC_000016.9:g.84183964G>C	(Likely) benign	1 lab	c0a4bdb55b
14:70489935 SMOC1 C>T	14	70489935	70489935	C	T	SMOC1	c.1062C>T	NM_001034852.2	NP_001030024.1:p.(Asp354=)	NC_000014.8:g.70489935C>T	(Likely) benign	1 lab	c0a5e813a7
7:92734358 SAMD9 G>A	7	92734358	92734358	G	A	SAMD9	c.1053C>T	NM_017654.3	NP_060124.2:p.(Asp351=)	NC_000007.13:g.92734358G>A	(Likely) benign	1 lab	c0a7853d12
12:32875412 DNM1L A>G	12	32875412	32875412	A	G	DNM1L	c.963A>G	NM_001278464.1	NP_001265393.1:p.(Ile321Met)	NC_000012.11:g.32875412A>G	VUS	1 lab	c0a7f6ab2f
1:15771138 CTRC G>A	1	15771138	15771138	G	A	CTRC	c.531G>A	NM_007272.2	NP_009203.2:p.(Leu177=)	NC_000001.10:g.15771138G>A	(Likely) benign	1 lab	c0ad8ed421
11:6645525 DCHS1 C>T	11	6645525	6645525	C	T	DCHS1				NC_000011.9:g.6645525C>T	VUS	1 lab	c0ae48548c
15:32685562 GOLGA8K C>A	15	32685562	32685562	C	A	GOLGA8K	c.1493G>T	NM_001282493.1	NP_001269422.1:p.(Gly498Val)	NC_000015.9:g.32685562C>A	VUS	1 lab	c0aecb7020
17:29685597 NF1 C>A	17	29685597	29685597	C	A	NF1	c.8007C>A	NM_000267.3	NP_000258.1:p.(Tyr2669Ter)	NC_000017.10:g.29685597C>A	(Likely) pathogenic	1 lab	c0b123124c
10:73567371 CDH23 G>A	10	73567371	73567371	G	A	CDH23	c.8407G>A	NM_022124.5	NP_071407.4:p.(Val2803Ile)	NC_000010.10:g.73567371G>A	VUS	1 lab	c0b24ba890
5:37108561 CPLANE1 G>A	5	37108561	37108561	G	A	CPLANE1	c.9251C>T	NM_023073.3	NP_075561.3:p.(Pro3084Leu)	NC_000005.9:g.37108561G>A	VUS	1 lab	c0b3346158
5:82816359 VCAN A>C	5	82816359	82816359	A	C	VCAN	c.2234A>C	NM_004385.4	NP_004376.2:p.(Lys745Thr)	NC_000005.9:g.82816359A>C	VUS	1 lab	c0b47f1dd9
16:3294284 MEFV T>C	16	3294284	3294284	T	C	MEFV	c.1729A>G	NM_000243.2	NP_000234.1:p.(Thr577Ala)	NC_000016.9:g.3294284T>C	(Likely) benign	1 lab	c0b57014f4
17:56769969 RAD51C A>G	17	56769969	56769969	A	G	RAD51C	c.-36A>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56769969A>G	VUS	1 lab	c6bc839ada
1:23419383 LUZP1 C>T	1	23419383	23419383	C	T	LUZP1	c.1372G>A	NM_033631.3	NP_361013.3:p.(Gly458Ser)	NC_000001.10:g.23419383C>T	(Likely) benign	1 lab	c0b5dfba63
9:100201517 TDRD7 A>T	9	100201517	100201517	A	T	TDRD7	c.564-10A>T	NM_014290.2	NP_055105.2:p.?	NC_000009.11:g.100201517A>T	(Likely) benign	1 lab	c0b8aa1c85
5:171765445 SH3PXD2B G>A	5	171765445	171765445	G	A	SH3PXD2B	c.2664C>T	NM_001017995.2	NP_001017995.1:p.(Phe888=)	NC_000005.9:g.171765445G>A	(Likely) benign	1 lab	c0b9b1dc3c
21:46932318 COL18A1 G>A	21	46932318	46932318	G	A	COL18A1	c.*6G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46932318G>A	(Likely) benign	1 lab	c0ba2c8a21
20:8709787 PLCB1 T>C	20	8709787	8709787	T	C	PLCB1	c.1854T>C	NM_182734.2	NP_877398.1:p.(Gly618=)	NC_000020.10:g.8709787T>C	(Likely) benign	1 lab	c0bb1c89e3
7:91852219 KRIT1 GT>G	7	91852219	91852220	GT	G	KRIT1	c.1327del	NM_194454.3	NP_919436.1:p.(Thr443GlnfsTer5)	NC_000007.13:g.91852220del	(Likely) pathogenic	1 lab	c0bb5426de
12:49445512 KMT2D G>A	12	49445512	49445512	G	A	KMT2D	c.1954C>T	NM_003482.3	NP_003473.3:p.(Arg652Cys)	NC_000012.11:g.49445512G>A	(Likely) benign	1 lab	c0bdb96872
12:80658930 OTOGL G>A	12	80658930	80658930	G	A	OTOGL	c.2137G>A	NM_173591.3	NP_775862.3:p.(Ala713Thr)	NC_000012.11:g.80658930G>A	VUS	1 lab	c0be5353ef
19:1619308 TCF3 C>T	19	1619308	1619308	C	T	TCF3	c.1326+7G>A	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1619308C>T	(Likely) benign	1 lab	c0bf3df43e
5:118832325 HSD17B4 C>T	5	118832325	118832325	C	T	HSD17B4	c.1031C>T	NM_001199291.2	NP_001186220.1:p.(Thr344Ile)	NC_000005.9:g.118832325C>T	VUS	1 lab	c0c1b43993
6:152749455 SYNE1 T>A	6	152749455	152749455	T	A	SYNE1	c.4861A>T	NM_182961.3	NP_892006.3:p.(Asn1621Tyr)	NC_000006.11:g.152749455T>A	(Likely) benign	1 lab	c0c351ad30
15:86822968 AGBL1 T>A	15	86822968	86822968	T	A	AGBL1	c.2174T>A	NM_152336.3	NP_689549.3:p.(Val725Asp)	NC_000015.9:g.86822968T>A	VUS	1 lab	c0c5d60ec8
20:62324167 RTEL1 G>C	20	62324167	62324167	G	C	RTEL1	c.2662G>C	NM_001283009.1	NP_001269938.1:p.(Val888Leu)	NC_000020.10:g.62324167G>C	(Likely) benign	1 lab	c0c6c57990
14:73678575 PSEN1 C>T	14	73678575	73678575	C	T	PSEN1	c.1054C>T	NM_000021.3	NP_000012.1:p.(Arg352Cys)	NC_000014.8:g.73678575C>T	VUS	1 lab	c0c74f10e9
5:167924272 RARS1 G>A	5	167924272	167924272	G	A	RARS1	c.741G>A	NM_002887.3	NP_002878.2:p.(Met247Ile)	NC_000005.9:g.167924272G>A	VUS	1 lab	c0c8984619
9:139265370 CARD9 C>T	9	139265370	139265370	C	T	CARD9	c.550G>A	NM_052813.4	NP_434700.2:p.(Asp184Asn)	NC_000009.11:g.139265370C>T	(Likely) benign	1 lab	c0ca5d7ee6
13:25480295 CPAP C>T	13	25480295	25480295	C	T	CPAP	c.1881G>A	NM_018451.4	NP_060921.3:p.(Pro627=)	NC_000013.10:g.25480295C>T	(Likely) benign	1 lab	c0ca9c971c
12:42853845 PRICKLE1 G>C	12	42853845	42853845	G	C	PRICKLE1	c.2262C>G	NM_153026.2	NP_694571.2:p.(Leu754=)	NC_000012.11:g.42853845G>C	(Likely) benign	1 lab	c0cb30d2d0
1:201063084 CACNA1S G>A	1	201063084	201063084	G	A	CACNA1S	c.324C>T	NM_000069.2	NP_000060.2:p.(Tyr108=)	NC_000001.10:g.201063084G>A	(Likely) benign	1 lab	c0cbaee39d
11:19213906 CSRP3 G>A	11	19213906	19213906	G	A	CSRP3				NC_000011.9:g.19213906G>A	(Likely) benign	1 lab	c0cd4cb0d8
2:219545347 STK36 T>C	2	219545347	219545347	T	C	STK36	c.1158T>C	NM_015690.4	NP_056505.2:p.(Asp386=)	NC_000002.11:g.219545347T>C	(Likely) benign	1 lab	c0cf472f57
10:111860519 ADD3 T>G	10	111860519	111860519	T	G	ADD3	c.108T>G	NM_016824.4	NP_058432.1:p.(Ile36Met)	NC_000010.10:g.111860519T>G	(Likely) benign	1 lab	c0cf815a5b
1:103481286 COL11A1 G>A	1	103481286	103481286	G	A	COL11A1	c.1462C>T	NM_080629.2	NP_542196.2:p.(Arg488Cys)	NC_000001.10:g.103481286G>A	VUS	1 lab	c0cff584e7
3:4738926 ITPR1 G>A	3	4738926	4738926	G	A	ITPR1	c.4332G>A	NM_001168272.1	NP_001161744.1:p.(Leu1444=)	NC_000003.11:g.4738926G>A	(Likely) benign	1 lab	c0d0583a4d
10:50679081 ERCC6 G>A	10	50679081	50679081	G	A	ERCC6	c.3010C>T	NM_000124.2	NP_000115.1:p.(Leu1004=)	NC_000010.10:g.50679081G>A	(Likely) benign	1 lab	c0d0955ca2
17:29552258 NF1 ACTCCT>A	17	29552258	29552265	ACTCCT	A	NF1	c.1994_1998del	NM_001042492.3	NP_001035957.1:p.(Ser665TyrfsTer3)	NC_000017.10:g.29552261_29552265del	(Likely) pathogenic	1 lab	c0d0e8b216
X:119590561 LAMP2 TA>T	X	119590561	119590564	TA	T	LAMP2	c.127del	NM_002294.3	NP_002285.1:p.(Tyr43MetfsTer6)	NC_000023.10:g.119590564del	(Likely) pathogenic	1 lab	c0d3686ea0
7:42005885 GLI3 A>G	7	42005885	42005885	A	G	GLI3	c.2786T>C	NM_000168.5	NP_000159.3:p.(Leu929Pro)	NC_000007.13:g.42005885A>G	(Likely) pathogenic	1 lab	c0d379d858
16:2110791 TSC2 G>T	16	2110791	2110791	G	T	TSC2	c.1096G>T	NM_000548.3	NP_000539.2:p.(Glu366Ter)	NC_000016.9:g.2110791G>T	(Likely) pathogenic	1 lab	c0d3c437a3
10:29777637 SVIL C>G	10	29777637	29777637	C	G	SVIL	c.4241G>C	NM_021738.2	NP_068506.2:p.(Ser1414Thr)	NC_000010.10:g.29777637C>G	(Likely) benign	1 lab	c0d4d3490f
7:44282206 CAMK2B C>T	7	44282206	44282206	C	T	CAMK2B	c.649G>A	NM_001220.4	NP_001211.3:p.(Glu217Lys)	NC_000007.13:g.44282206C>T	(Likely) pathogenic	1 lab	c0d5731de3
8:124987479 FER1L6 G>A	8	124987479	124987479	G	A	FER1L6	c.616G>A	NM_001039112.2	NP_001034201.2:p.(Val206Ile)	NC_000008.10:g.124987479G>A	(Likely) benign	1 lab	c0d8a3acac
12:121078615 CABP1 A>T	12	121078615	121078615	A	T	CABP1	c.127A>T	NM_001033677.1	NP_001028849.1:p.(Thr43Ser)	NC_000012.11:g.121078615A>T	(Likely) benign	1 lab	c0db59d1f9
22:21213489 SNAP29 C>T	22	21213489	21213489	C	T	SNAP29	c.91C>T	NM_004782.3	NP_004773.1:p.(Leu31Phe)	NC_000022.10:g.21213489C>T	(Likely) benign	1 lab	c0db7a9233
17:73269592 SLC25A19 G>A	17	73269592	73269592	G	A	SLC25A19	c.903C>T	NM_001126121.2	NP_001119593.1:p.(Phe301=)	NC_000017.10:g.73269592G>A	(Likely) benign	1 lab	c0dc291ed7
1:64608140 ROR1 G>C	1	64608140	64608140	G	C	ROR1	c.981G>C	NM_005012.3	NP_005003.2:p.(Val327=)	NC_000001.10:g.64608140G>C	(Likely) benign	1 lab	c0dc761059
12:80648945 OTOGL CA>C	12	80648945	80648946	CA	C	OTOGL	c.1568del	NM_001378609.3	NP_001365538.2:p.(Gln523ArgfsTer17)	NC_000012.11:g.80648946del	(Likely) pathogenic	1 lab	c0de61ceaa
11:134031693 NCAPD3 G>A	11	134031693	134031693	G	A	NCAPD3	c.3667C>T	NM_015261.2	NP_056076.1:p.(Leu1223Phe)	NC_000011.9:g.134031693G>A	VUS	1 lab	c0dfb4acd9
9:14824811 FREM1 A>G	9	14824811	14824811	A	G	FREM1	c.2061T>C	NM_144966.5	NP_659403.4:p.(Phe687=)	NC_000009.11:g.14824811A>G	(Likely) benign	1 lab	c0e09faca7
2:27591919 EIF2B4 T>C	2	27591919	27591919	T	C	EIF2B4	c.327A>G	NM_001318966.1	NP_001305895.1:p.(Gly109=)	NC_000002.11:g.27591919T>C	(Likely) benign	1 lab	c0e3d4c8e8
13:114438285 GRK1 C>T	13	114438285	114438285	C	T	GRK1	c.1641C>T	NM_002929.3	NP_002920.1:p.(Ile547=)	NC_000013.10:g.114438285C>T	(Likely) benign	1 lab	c0e424011f
1:197073025 ASPM G>C	1	197073025	197073025	G	C	ASPM	c.5356C>G	NM_018136.4	NP_060606.3:p.(His1786Asp)	NC_000001.10:g.197073025G>C	(Likely) benign	1 lab	c0e453cabb
6:89601628 RNGTT T>C	6	89601628	89601628	T	C	RNGTT	c.691A>G	NM_003800.5	NP_003791.3:p.(Ile231Val)	NC_000006.11:g.89601628T>C	(Likely) benign	1 lab	c0e5f7cf70
22:24456459 CABIN1 A>G	22	24456459	24456459	A	G	CABIN1	c.1472A>G	NM_001199281.1	NP_001186210.1:p.(Tyr491Cys)	NC_000022.10:g.24456459A>G	VUS	1 lab	c0e6174df6
13:39262013 FREM2 C>A	13	39262013	39262013	C	A	FREM2	c.532C>A	NM_207361.5	NP_997244.4:p.(Gln178Lys)	NC_000013.10:g.39262013C>A	VUS	1 lab	c0e69e67f0
12:26709168 ITPR2 C>T	12	26709168	26709168	C	T	ITPR2	c.4962G>A	NM_002223.3	NP_002214.2:p.(Ser1654=)	NC_000012.11:g.26709168C>T	(Likely) benign	1 lab	c0ea6f5999
2:101652537 TBC1D8 G>A	2	101652537	101652537	G	A	TBC1D8	c.1501C>T	NM_001102426.2	NP_001095896.1:p.(Leu501Phe)	NC_000002.11:g.101652537G>A	VUS	1 lab	c0eb463dae
X:153296091 MECP2 G>A	X	153296091	153296091	G	A	MECP2	c.1188C>T	NM_004992.3	NP_004983.1:p.(Ser396=)	NC_000023.10:g.153296091G>A	(Likely) benign	1 lab	c0eb72961d
14:68229395 ZFYVE26 G>A	14	68229395	68229395	G	A	ZFYVE26	c.6153C>T	NM_015346.3	NP_056161.2:p.(Gly2051=)	NC_000014.8:g.68229395G>A	(Likely) benign	1 lab	c0ecffe683
X:20074815 MAP7D2 C>A	X	20074815	20074815	C	A	MAP7D2	c.467G>T	NM_001168465.2	NP_001161937.1:p.(Gly156Val)	NC_000023.10:g.20074815C>A	(Likely) benign	1 lab	c0eed6f0c9
11:70332126 SHANK2 G>A	11	70332126	70332126	G	A	SHANK2	c.4272C>T	NM_012309.4	NP_036441.2:p.(Pro1424=)	NC_000011.9:g.70332126G>A	(Likely) benign	1 lab	c0ef7c642f
19:55255494 KIR2DL3 G>A	19	55255494	55255494	G	A	KIR2DL3	c.622G>A	NM_015868.2	NP_056952.2:p.(Glu208Lys)	NC_000019.9:g.55255494G>A	(Likely) benign	1 lab	c0efaf6077
11:125875959 CDON GGAGA>G	11	125875959	125875970	GGAGA	G	CDON	c.1553-11_1553-8del	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125875967_125875970del	VUS	1 lab	c0f01768eb
3:132175418 DNAJC13 A>T	3	132175418	132175418	A	T	DNAJC13	c.1173A>T	NM_015268.4	NP_056083.3:p.(Thr391=)	NC_000003.11:g.132175418A>T	(Likely) benign	1 lab	c0f05541fe
9:126134475 CRB2 GTGGGAC>G	9	126134475	126134482	GTGGGAC	G	CRB2	c.2458_2463del	NM_173689.7	NP_775960.4:p.(Gly820_Thr821del)	NC_000009.11:g.126134477_126134482del	VUS	1 lab	c0f1768a58
4:126238947 FAT4 C>G	4	126238947	126238947	C	G	FAT4	c.1381C>G	NM_001291303.1	NP_001278232.1:p.(Leu461Val)	NC_000004.11:g.126238947C>G	VUS	1 lab	c0f1926a6d
X:142967443 UBE2NL G>A	X	142967443	142967443	G	A	UBE2NL	c.241G>A	NM_001012989.2	NP_001013007.1:p.(Val81Ile)	NC_000023.10:g.142967443G>A	(Likely) benign	1 lab	c0f3bf2d19
2:179603044 TTN T>G	2	179603044	179603044	T	G	TTN	c.14136A>C	NM_001267550.1	NP_001254479.1:p.(Ala4712=)	NC_000002.11:g.179603044T>G	(Likely) benign	1 lab	c0f42bdcc2
16:15788041 NDE1 G>T	16	15788041	15788041	G	T	NDE1	c.723G>T	NM_001143979.1	NP_001137451.1:p.(Gly241=)	NC_000016.9:g.15788041G>T	VUS	1 lab	c0f477f249
X:10427690 MID1 T>G	X	10427690	10427690	T	G	MID1	c.1443A>C	NM_001347733.1	NP_001334662.1:p.(Thr481=)	NC_000023.10:g.10427690T>G	(Likely) benign	1 lab	c0f51e7f1f
13:113714984 MCF2L C>A	13	113714984	113714984	C	A	MCF2L	c.447C>A	NM_001112732.3	NP_001106203.2:p.(Ile149=)	NC_000013.10:g.113714984C>A	(Likely) benign	1 lab	c0f8ad04de
1:6508867 ESPN G>A	1	6508867	6508867	G	A	ESPN	c.1631G>A	NM_031475.3	NP_113663.2:p.(Arg544His)	NC_000001.10:g.6508867G>A	(Likely) benign	1 lab	c0fa63d934
17:61562654 ACE C>G	17	61562654	61562654	C	G	ACE	c.1979C>G	NM_000789.3	NP_000780.1:p.(Ser660Cys)	NC_000017.10:g.61562654C>G	VUS	1 lab	c0fb9d922d
3:46010092 FYCO1 C>T	3	46010092	46010092	C	T	FYCO1	c.734G>A	NM_024513.3	NP_078789.2:p.(Arg245Gln)	NC_000003.11:g.46010092C>T	VUS	1 lab	c0fcfd79ab
17:40574728 CAVIN1 G>C	17	40574728	40574728	G	C	CAVIN1	c.388C>G	NM_012232.5	NP_036364.2:p.(Arg130Gly)	NC_000017.10:g.40574728G>C	VUS	1 lab	c0fd747da8
3:197409436 RUBCN G>A	3	197409436	197409436	G	A	RUBCN	c.1896C>T	NM_001145642.4	NP_001139114.1:p.(His632=)	NC_000003.11:g.197409436G>A	(Likely) benign	1 lab	c0ff9afb9d
X:153735204 FAM3A C>T	X	153735204	153735204	C	T	FAM3A	c.673G>A	NM_001282311.1	NP_001269240.1:p.(Glu225Lys)	NC_000023.10:g.153735204C>T	VUS	1 lab	c0ff9e1489
17:29661863 NF1 AT>A	17	29661863	29661865	AT	A	NF1	c.5822del	NM_001042492.3	NP_001035957.1:p.(Leu1941Ter)	NC_000017.10:g.29661865del	(Likely) pathogenic	1 lab	c10116dfb8
22:32883818 FBXO7 A>G	22	32883818	32883818	A	G	FBXO7	c.871+3A>G	NM_012179.3	NP_036311.3:p.?	NC_000022.10:g.32883818A>G	VUS	1 lab	c103aa0146
17:29653271 NF1 G>A	17	29653271	29653271	G	A	NF1	c.5205+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653271G>A	(Likely) pathogenic	1 lab	c104754c58
3:136046017 PCCB G>A	3	136046017	136046017	G	A	PCCB	c.1279G>A	NM_001178014.1	NP_001171485.1:p.(Gly427Ser)	NC_000003.11:g.136046017G>A	(Likely) pathogenic	1 lab	c10490d342
7:21907467 DNAH11 T>A	7	21907467	21907467	T	A	DNAH11				NC_000007.13:g.21907467T>A	VUS	1 lab	c105021aaa
X:149931158 MTMR1 T>C	X	149931158	149931158	T	C	MTMR1	c.2005T>C	NM_001353990.1	NP_001340919.1:p.(Ser669Pro)	NC_000023.10:g.149931158T>C	(Likely) benign	1 lab	c1058a1292
5:37227860 CPLANE1 C>A	5	37227860	37227860	C	A	CPLANE1	c.1181G>T	NM_023073.3	NP_075561.3:p.(Ser394Ile)	NC_000005.9:g.37227860C>A	VUS	1 lab	c1082db7b3
14:50100374 DNAAF2 C>T	14	50100374	50100374	C	T	DNAAF2	c.1494G>A	NM_018139.2	NP_060609.2:p.(Ser498=)	NC_000014.8:g.50100374C>T	(Likely) benign	1 lab	c1089bc7a4
11:67290042 CABP2 C>T	11	67290042	67290042	C	T	CABP2	c.188G>A	NM_016366.2	NP_057450.2:p.(Arg63Gln)	NC_000011.9:g.67290042C>T	(Likely) benign	1 lab	c109cb0c96
9:137711988 COL5A1 C>T	9	137711988	137711988	C	T	COL5A1	c.4473C>T	NM_000093.4	NP_000084.3:p.(Ile1491=)	NC_000009.11:g.137711988C>T	(Likely) benign	1 lab	c10a0fe49e
20:57430006 GNAS C>T	20	57430006	57430006	C	T	GNAS	c.1499C>T	NM_001077490.2	NP_001070958.1:p.(Ala500Val)	NC_000020.10:g.57430006C>T	(Likely) benign	1 lab	c10bfb5dfc
12:106770144 POLR3B A>G	12	106770144	106770144	A	G	POLR3B	c.412A>G	NM_018082.5	NP_060552.4:p.(Ile138Val)	NC_000012.11:g.106770144A>G	VUS	1 lab	c10c126af8
11:57506518 TMX2 A>G	11	57506518	57506518	A	G	TMX2	c.614+7A>G	NM_015959.4	NP_057043.1:p.?	NC_000011.9:g.57506518A>G	(Likely) benign	1 lab	c10d97a51a
6:32497962 HLA-DRB5 T>TGC	6	32497962	32497963	T	TGC	HLA-DRB5	c.39_40insGC	NM_002125.4	NP_002116.2:p.(Lys14AlafsTer3)	NC_000006.11:g.32497962_32497963insGC	(Likely) benign	1 lab	c10e9a1d52
X:24759496 POLA1 T>A	X	24759496	24759496	T	A	POLA1	c.2221T>A	NM_001330360.1	NP_001317289.1:p.(Ser741Thr)	NC_000023.10:g.24759496T>A	(Likely) benign	1 lab	c11010f8b2
7:55238094 EGFR G>A	7	55238094	55238094	G	A	EGFR	c.1975G>A	NM_201284.1	NP_958441.1:p.(Gly659Arg)	NC_000007.13:g.55238094G>A	VUS	1 lab	c1109f7ec2
17:72923351 OTOP2 G>A	17	72923351	72923351	G	A	OTOP2	c.484G>A	NM_178160.2	NP_835454.1:p.(Val162Ile)	NC_000017.10:g.72923351G>A	VUS	1 lab	c111a16514
19:54301594 NLRP12 G>A	19	54301594	54301594	G	A	NLRP12	c.2833C>T	NM_001277126.1	NP_001264055.1:p.(Arg945Trp)	NC_000019.9:g.54301594G>A	VUS	1 lab	c113251cbb
4:113568478 LARP7 C>A	4	113568478	113568478	C	A	LARP7	c.791C>A	NM_001267039.1	NP_001253968.1:p.(Thr264Lys)	NC_000004.11:g.113568478C>A	(Likely) benign	1 lab	c11375d3f0
X:111156021 TRPC5 T>C	X	111156021	111156021	T	C	TRPC5	c.398A>G	NM_012471.2	NP_036603.1:p.(Asp133Gly)	NC_000023.10:g.111156021T>C	VUS	1 lab	c114fc2344
X:153648578 TAFAZZIN C>T	X	153648578	153648578	C	T	TAFAZZIN	c.674C>T	NM_000116.3	NP_000107.1:p.(Pro225Leu)	NC_000023.10:g.153648578C>T	VUS	1 lab	c11604d2d0
12:124228319 ATP6V0A2 G>T	12	124228319	124228319	G	T	ATP6V0A2	c.1039-13G>T	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124228319G>T	(Likely) benign	1 lab	c117688f79
4:79430038 FRAS1 G>A	4	79430038	79430038	G	A	FRAS1	c.9658G>A	NM_025074.7	NP_079350.5:p.(Gly3220Ser)	NC_000004.11:g.79430038G>A	VUS	1 lab	c119efa6db
18:67721497 RTTN T>C	18	67721497	67721497	T	C	RTTN	c.5055A>G	NM_173630.3	NP_775901.3:p.(Leu1685=)	NC_000018.9:g.67721497T>C	(Likely) benign	1 lab	c11bae69fd
5:176011641 CDHR2 G>T	5	176011641	176011641	G	T	CDHR2	c.2359G>T	NM_001171976.1	NP_001165447.1:p.(Gly787Trp)	NC_000005.9:g.176011641G>T	VUS	1 lab	c11be9eb46
17:27049905 RPL23A A>G	17	27049905	27049905	A	G	RPL23A	c.374A>G	NM_000984.6	NP_000975.2:p.(Asn125Ser)	NC_000017.10:g.27049905A>G	VUS	1 lab	c11caad4d9
X:153132240 L1CAM C>T	X	153132240	153132240	C	T	L1CAM	c.2295G>A	NM_001278116.1	NP_001265045.1:p.(Glu765=)	NC_000023.10:g.153132240C>T	(Likely) benign	1 lab	c11f398b6a
12:31242362 DDX11 A>G	12	31242362	31242362	A	G	DDX11	c.818A>G	NM_030653.3	NP_085911.2:p.(Lys273Arg)	NC_000012.11:g.31242362A>G	(Likely) benign	1 lab	c120cf2ee4
16:4732845 MGRN1 C>G	16	4732845	4732845	C	G	MGRN1	c.1380C>G	NM_001142290.2	NP_001135762.1:p.(Ser460=)	NC_000016.9:g.4732845C>G	(Likely) benign	1 lab	c1211b24c5
17:11809072 DNAH9 A>G	17	11809072	11809072	A	G	DNAH9	c.11695A>G	NM_001372.3	NP_001363.2:p.(Met3899Val)	NC_000017.10:g.11809072A>G	(Likely) benign	1 lab	c12147ed0f
4:15995604 PROM1 A>C	4	15995604	15995604	A	C	PROM1	c.1740+6T>G	NM_001145847.1	NP_001139319.1:p.?	NC_000004.11:g.15995604A>C	VUS	1 lab	c1223bdbba
6:143081533 HIVEP2 T>C	6	143081533	143081533	T	C	HIVEP2	c.5892A>G	NM_006734.3	NP_006725.3:p.(Gly1964=)	NC_000006.11:g.143081533T>C	(Likely) benign	1 lab	c122513321
2:209010519 CRYGB G>A	2	209010519	209010519	G	A	CRYGB	c.231C>T	NM_005210.3	NP_005201.2:p.(Arg77=)	NC_000002.11:g.209010519G>A	(Likely) benign	1 lab	c1228a3beb
13:20716316 GJA3 G>C	13	20716316	20716316	G	C	GJA3	c.1112C>G	NM_021954.3	NP_068773.2:p.(Ala371Gly)	NC_000013.10:g.20716316G>C	(Likely) benign	1 lab	c123a05ea2
9:135779135 TSC1 TAG>T	9	135779135	135779139	TAG	T	TSC1	c.2109_2110del	NM_000368.5	NP_000359.1:p.(Tyr704Ter)	NC_000009.11:g.135779138_135779139del	(Likely) pathogenic	1 lab	c126b0fb4c
9:101900305 TGFBR1 G>A	9	101900305	101900305	G	A	TGFBR1	c.751G>A	NM_001306210.1	NP_001293139.1:p.(Glu251Lys)	NC_000009.11:g.101900305G>A	VUS	1 lab	c126ea9e78
10:77161106 ZNF503 T>TCCG	10	77161106	77161111	T	TCCG	ZNF503	c.69_71dup	NM_032772.6	NP_116161.2:p.(Gly27dup)	NC_000010.10:g.77161109_77161111dup	(Likely) benign	1 lab	c12726be1d
7:103162557 RELN G>T	7	103162557	103162557	G	T	RELN	c.7580C>A	NM_005045.3	NP_005036.2:p.(Ser2527Tyr)	NC_000007.13:g.103162557G>T	VUS	1 lab	c127ec0d29
11:67810325 TCIRG1 C>T	11	67810325	67810325	C	T	TCIRG1				NC_000011.9:g.67810325C>T	(Likely) benign	1 lab	c1292b4bb8
14:88411976 GALC G>A	14	88411976	88411976	G	A	GALC	c.1591C>T	NM_000153.3	NP_000144.2:p.(Arg531Cys)	NC_000014.8:g.88411976G>A	(Likely) pathogenic	1 lab	c129fa019d
5:70806813 BDP1 C>G	5	70806813	70806813	C	G	BDP1	c.3894C>G	NM_018429.2	NP_060899.2:p.(Ile1298Met)	NC_000005.9:g.70806813C>G	VUS	1 lab	c12a0664a1
9:90753259 SPATA31C2 C>T	9	90753259	90753259	C	T	SPATA31C2	c.103G>A	NM_001350978.1	NP_001337907.1:p.(Ala35Thr)	NC_000009.11:g.90753259C>T	(Likely) benign	1 lab	c12a7c67d5
7:48327673 ABCA13 C>A	7	48327673	48327673	C	A	ABCA13	c.8953C>A	NM_152701.4	NP_689914.3:p.(Gln2985Lys)	NC_000007.13:g.48327673C>A	VUS	1 lab	c12a83e593
12:125434995 DHX37 G>A	12	125434995	125434995	G	A	DHX37	c.3085C>T	NM_032656.4	NP_116045.2:p.(Arg1029Trp)	NC_000012.11:g.125434995G>A	VUS	1 lab	c12bb301d3
9:140685410 EHMT1 G>C	9	140685410	140685410	G	C	EHMT1	c.2493G>C	NM_024757.4	NP_079033.4:p.(Leu831=)	NC_000009.11:g.140685410G>C	(Likely) benign	1 lab	c12e1465f9
16:2136238 TSC2 C>G	16	2136238	2136238	C	G	TSC2	c.4707C>G	NM_000548.3	NP_000539.2:p.(Tyr1569Ter)	NC_000016.9:g.2136238C>G	(Likely) pathogenic	1 lab	c12e8e9096
12:46245344 ARID2 G>A	12	46245344	46245344	G	A	ARID2	c.3438G>A	NM_152641.3	NP_689854.2:p.(Ser1146=)	NC_000012.11:g.46245344G>A	(Likely) benign	1 lab	c12edb48d9
3:142231190 ATR G>A	3	142231190	142231190	G	A	ATR	c.4764C>T	NM_001184.3	NP_001175.2:p.(Leu1588=)	NC_000003.11:g.142231190G>A	(Likely) benign	1 lab	c12f10fa48
8:72211326 EYA1 G>A	8	72211326	72211326	G	A	EYA1	c.782C>T	NM_000503.5	NP_000494.2:p.(Pro261Leu)	NC_000008.10:g.72211326G>A	(Likely) benign	1 lab	c12f37ecb7
3:52442078 BAP1 A>C	3	52442078	52442078	A	C	BAP1	c.271T>G	NM_004656.2	NP_004647.1:p.(Cys91Gly)	NC_000003.11:g.52442078A>C	VUS	1 lab	c130c50e34
15:28358331 HERC2 C>T	15	28358331	28358331	C	T	HERC2	c.14118G>A	NM_004667.5	NP_004658.3:p.(Glu4706=)	NC_000015.9:g.28358331C>T	(Likely) benign	1 lab	c130da0b33
1:114438468 AP4B1 C>T	1	114438468	114438468	C	T	AP4B1	c.1703G>A	NM_006594.4	NP_006585.2:p.(Gly568Asp)	NC_000001.10:g.114438468C>T	(Likely) benign	1 lab	c13217221d
15:62276107 VPS13C T>A	15	62276107	62276107	T	A	VPS13C	c.1826A>T	NM_001018088.2	NP_001018098.1:p.(Lys609Ile)	NC_000015.9:g.62276107T>A	VUS	1 lab	c134dd4de3
8:97157739 GDF6 G>A	8	97157739	97157739	G	A	GDF6	c.420C>T	NM_001001557.3	NP_001001557.1:p.(His140=)	NC_000008.10:g.97157739G>A	(Likely) benign	1 lab	c136398e99
21:47705069 MCM3AP G>A	21	47705069	47705069	G	A	MCM3AP	c.132C>T	NM_003906.4	NP_003897.2:p.(Thr44=)	NC_000021.8:g.47705069G>A	(Likely) benign	1 lab	c136e6b733
18:34298372 FHOD3 T>A	18	34298372	34298372	T	A	FHOD3	c.3111T>A	NM_001281740.2	NP_001268669.1:p.(Pro1037=)	NC_000018.9:g.34298372T>A	(Likely) benign	1 lab	c137e6372d
1:161518297 FCGR3A G>T	1	161518297	161518297	G	T	FCGR3A	c.548C>A	NM_000569.7	NP_000560.6:p.(Ala183Asp)	NC_000001.10:g.161518297G>T	(Likely) benign	1 lab	c138903d93
21:44838249 SIK1 C>T	21	44838249	44838249	C	T	SIK1	c.1635G>A	NM_173354.4	NP_775490.2:p.(Ser545=)	NC_000021.8:g.44838249C>T	(Likely) benign	1 lab	c138931a33
X:153588509 FLNA G>T	X	153588509	153588509	G	T	FLNA	c.3654C>A	NM_001110556.2	NP_001104026.1:p.(Thr1218=)	NC_000023.10:g.153588509G>T	(Likely) benign	1 lab	c138efa23b
17:17701670 RAI1 G>A	17	17701670	17701670	G	A	RAI1	c.5408G>A	NM_030665.3	NP_109590.3:p.(Arg1803His)	NC_000017.10:g.17701670G>A	(Likely) benign	1 lab	c139727130
11:1274141 MUC5B G>A	11	1274141	1274141	G	A	MUC5B	c.15148G>A	NM_002458.2	NP_002449.2:p.(Val5050Met)	NC_000011.9:g.1274141G>A	VUS	1 lab	c13a863497
2:210837942 UNC80 A>G	2	210837942	210837942	A	G	UNC80	c.8337A>G	NM_032504.1	NP_115893.1:p.(Lys2779=)	NC_000002.11:g.210837942A>G	(Likely) benign	1 lab	c13ab990ca
X:107923923 COL4A5 G>T	X	107923923	107923923	G	T	COL4A5	c.3957G>T	NM_033380.2	NP_203699.1:p.(Arg1319=)	NC_000023.10:g.107923923G>T	(Likely) benign	1 lab	c13bac3078
2:27676317 IFT172 G>A	2	27676317	27676317	G	A	IFT172	c.3885C>T	NM_015662.2	NP_056477.1:p.(Ala1295=)	NC_000002.11:g.27676317G>A	(Likely) benign	1 lab	c13bee6fa2
4:144498951 FREM3 C>T	4	144498951	144498951	C	T	FREM3	c.6233G>A	NM_001168235.1	NP_001161707.1:p.(Arg2078His)	NC_000004.11:g.144498951C>T	(Likely) benign	1 lab	c13e1ce892
17:29559824 NF1 CT>C	17	29559824	29559825	CT	C	NF1	c.3422del	NM_001042492.3	NP_001035957.1:p.(Leu1141ArgfsTer17)	NC_000017.10:g.29559825del	(Likely) pathogenic	1 lab	c13ebe34c9
21:47544625 COL6A2 G>A	21	47544625	47544625	G	A	COL6A2	c.1732G>A	NM_058175.2	NP_478055.2:p.(Glu578Lys)	NC_000021.8:g.47544625G>A	VUS	1 lab	c13fee8921
17:41223115 BRCA1 T>C	17	41223115	41223115	T	C	BRCA1	c.4816A>G	NM_007294.3	NP_009225.1:p.(Lys1606Glu)	NC_000017.10:g.41223115T>C	(Likely) benign	1 lab	c14064c067
2:1670150 PXDN G>A	2	1670150	1670150	G	A	PXDN	c.1127C>T	NM_012293.2	NP_036425.1:p.(Thr376Met)	NC_000002.11:g.1670150G>A	VUS	1 lab	c141f3e5a4
1:181701707 MISSING C>T	1	181701707	181701707	C	T	MISSING				NC_000001.10:g.181701707C>T	VUS	1 lab	c1462e1b2e
X:107850075 COL4A5 C>T	X	107850075	107850075	C	T	COL4A5	c.2348C>T	NM_033380.2	NP_203699.1:p.(Pro783Leu)	NC_000023.10:g.107850075C>T	VUS	1 lab	c146bdf539
19:50796536 MYH14 G>A	19	50796536	50796536	G	A	MYH14	c.5303G>A	NM_001145809.1	NP_001139281.1:p.(Arg1768Gln)	NC_000019.9:g.50796536G>A	VUS	1 lab	c1478385e7
X:53565342 HUWE1 G>C	X	53565342	53565342	G	C	HUWE1	c.11952C>G	NM_031407.6	NP_113584.3:p.(Val3984=)	NC_000023.10:g.53565342G>C	(Likely) benign	1 lab	c14c710f68
3:131101166 NUDT16 CCAG>C	3	131101166	131101170	CCAG	C	NUDT16	c.408+9_408+11del	NM_152395.3	NP_689608.2:p.?	NC_000003.11:g.131101168_131101170del	VUS	1 lab	c14e79082c
19:12923943 RNASEH2A C>T	19	12923943	12923943	C	T	RNASEH2A	c.684C>T	NM_006397.2	NP_006388.2:p.(Phe228=)	NC_000019.9:g.12923943C>T	(Likely) benign	1 lab	c14f47d1a5
12:120135478 CIT C>T	12	120135478	120135478	C	T	CIT	c.5868G>A	NM_001206999.1	NP_001193928.1:p.(Pro1956=)	NC_000012.11:g.120135478C>T	(Likely) benign	1 lab	c151407099
11:119212305 MFRP T>G	11	119212305	119212305	T	G	MFRP	c.1693A>C	NM_031433.3	NP_113621.1:p.(Asn565His)	NC_000011.9:g.119212305T>G	VUS	1 lab	c15233cd4c
4:114278501 ANK2 C>T	4	114278501	114278501	C	T	ANK2	c.8727C>T	NM_001148.4	NP_001139.3:p.(Pro2909=)	NC_000004.11:g.114278501C>T	(Likely) benign	1 lab	c1524495fd
21:35260601 ITSN1 G>A	21	35260601	35260601	G	A	ITSN1	c.5148G>A	NM_001331010.1	NP_001317939.1:p.(Pro1716=)	NC_000021.8:g.35260601G>A	(Likely) benign	1 lab	c154f252be
16:66565330 TK2 G>A	16	66565330	66565330	G	A	TK2	c.181C>T	NM_001271934.1	NP_001258863.1:p.(Gln61Ter)	NC_000016.9:g.66565330G>A	(Likely) pathogenic	1 lab	c155810cdb
17:48265991 COL1A1 C>T	17	48265991	48265991	C	T	COL1A1	c.3107G>A	NM_000088.3	NP_000079.2:p.(Arg1036His)	NC_000017.10:g.48265991C>T	VUS	1 lab	c1566c3a43
1:22155506 HSPG2 C>T	1	22155506	22155506	C	T	HSPG2	c.12062G>A	NM_001291860.1	NP_001278789.1:p.(Arg4021His)	NC_000001.10:g.22155506C>T	VUS	1 lab	c1577ed0f5
18:7016490 LAMA1 G>A	18	7016490	7016490	G	A	LAMA1	c.2989C>T	NM_005559.3	NP_005550.2:p.(Pro997Ser)	NC_000018.9:g.7016490G>A	VUS	1 lab	c15cbec4f6
17:76130484 TMC8 G>A	17	76130484	76130484	G	A	TMC8	c.826G>A	NM_152468.4	NP_689681.2:p.(Glu276Lys)	NC_000017.10:g.76130484G>A	VUS	1 lab	c15ce92dab
13:25480145 CPAP G>A	13	25480145	25480145	G	A	CPAP	c.2031C>T	NM_018451.4	NP_060921.3:p.(Ala677=)	NC_000013.10:g.25480145G>A	(Likely) benign	1 lab	c15cee3d11
11:119216121 MFRP G>A	11	119216121	119216121	G	A	MFRP	c.641+9C>T	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119216121G>A	(Likely) benign	1 lab	c15d9ae800
10:101689996 DNMBP C>T	10	101689996	101689996	C	T	DNMBP	c.525G>A	NM_001318326.1	NP_001305255.1:p.(Gln175=)	NC_000010.10:g.101689996C>T	(Likely) benign	1 lab	c15ed2f750
2:234680951 UGT1A1 C>T	2	234680951	234680951	C	T	UGT1A1	c.1348C>T	NM_000463.2	NP_000454.1:p.(Arg450Cys)	NC_000002.11:g.234680951C>T	VUS	1 lab	c15fa502bd
10:50019653 WDFY4 A>G	10	50019653	50019653	A	G	WDFY4	c.5114A>G	NM_020945.1	NP_065996.1:p.(Asn1705Ser)	NC_000010.10:g.50019653A>G	(Likely) benign	1 lab	c160a532fa
19:48807243 ODAD1 C>T	19	48807243	48807243	C	T	ODAD1	c.709G>A	NM_144577.4	NP_653178.3:p.(Asp237Asn)	NC_000019.9:g.48807243C>T	(Likely) benign	1 lab	c1618ab769
3:141535834 GRK7 G>C	3	141535834	141535834	G	C	GRK7	c.1604G>C	NM_139209.2	NP_631948.1:p.(Arg535Thr)	NC_000003.11:g.141535834G>C	VUS	1 lab	c161e75296
3:43642063 ANO10 C>G	3	43642063	43642063	C	G	ANO10	c.150G>C	NM_001346464.1	NP_001333393.1:p.(Leu50Phe)	NC_000003.11:g.43642063C>G	VUS	1 lab	c162fd8fb8
8:18725216 PSD3 C>T	8	18725216	18725216	C	T	PSD3	c.1503G>A	NM_001362819.1	NP_001349748.1:p.(Thr501=)	NC_000008.10:g.18725216C>T	(Likely) benign	1 lab	c162ff2000
X:75649279 MAGEE1 C>T	X	75649279	75649279	C	T	MAGEE1	c.956C>T	NM_020932.2	NP_065983.1:p.(Ser319Phe)	NC_000023.10:g.75649279C>T	(Likely) benign	1 lab	c163fc80fc
X:7194007 STS G>A	X	7194007	7194007	G	A	STS	c.858G>A	NM_001320750.1	NP_001307679.1:p.(Pro286=)	NC_000023.10:g.7194007G>A	(Likely) benign	1 lab	c165ac86c2
1:169437482 SLC19A2 A>T	1	169437482	169437482	A	T	SLC19A2	c.1232T>A	NM_006996.2	NP_008927.1:p.(Ile411Asn)	NC_000001.10:g.169437482A>T	VUS	1 lab	c165b3ee41
X:19626151 SH3KBP1 C>T	X	19626151	19626151	C	T	SH3KBP1	c.910G>A	NM_031892.2	NP_114098.1:p.(Val304Ile)	NC_000023.10:g.19626151C>T	(Likely) benign	1 lab	c16601ce74
20:33584262 MYH7B C>T	20	33584262	33584262	C	T	MYH7B	c.3183C>T	NM_020884.4	NP_065935.3:p.(Ala1061=)	NC_000020.10:g.33584262C>T	(Likely) benign	1 lab	c166d93573
15:85383141 ALPK3 G>C	15	85383141	85383141	G	C	ALPK3	c.1237G>C	NM_020778.4	NP_065829.3:p.(Asp413His)	NC_000015.9:g.85383141G>C	VUS	1 lab	c166f075e0
20:47570296 ARFGEF2 C>T	20	47570296	47570296	C	T	ARFGEF2	c.807C>T	NM_006420.2	NP_006411.2:p.(Asp269=)	NC_000020.10:g.47570296C>T	(Likely) benign	1 lab	c1671613ab
19:33892648 PEPD C>T	19	33892648	33892648	C	T	PEPD	c.946G>A	NM_000285.3	NP_000276.2:p.(Val316Ile)	NC_000019.9:g.33892648C>T	VUS	1 lab	c16854b7e7
13:110826810 COL4A1 C>T	13	110826810	110826810	C	T	COL4A1	c.3389G>A	NM_001845.5	NP_001836.3:p.(Gly1130Asp)	NC_000013.10:g.110826810C>T	(Likely) pathogenic	1 lab	c16ac424a1
3:47162067 SETD2 G>A	3	47162067	47162067	G	A	SETD2	c.4059C>T	NM_014159.6	NP_054878.5:p.(Ser1353=)	NC_000003.11:g.47162067G>A	(Likely) benign	1 lab	c16b1f0262
2:202123045 CASP8 G>A	2	202123045	202123045	G	A	CASP8	c.91G>A	NM_001080125.1	NP_001073594.1:p.(Val31Met)	NC_000002.11:g.202123045G>A	VUS	1 lab	c16c10c4c4
1:168250406 TBX19 G>A	1	168250406	168250406	G	A	TBX19	c.78G>A	NM_005149.2	NP_005140.1:p.(Glu26=)	NC_000001.10:g.168250406G>A	(Likely) benign	1 lab	c16c9edc5e
2:241700087 KIF1A C>T	2	241700087	241700087	C	T	KIF1A	c.2439G>A	NM_001244008.1	NP_001230937.1:p.(Lys813=)	NC_000002.11:g.241700087C>T	(Likely) benign	1 lab	c16e09a229
14:89039313 ZC3H14 C>A	14	89039313	89039313	C	A	ZC3H14	c.721C>A	NM_001326297.1	NP_001313226.1:p.(Pro241Thr)	NC_000014.8:g.89039313C>A	VUS	1 lab	c170516a60
X:118533547 SLC25A43 C>T	X	118533547	118533547	C	T	SLC25A43	c.181C>T	NM_145305.2	NP_660348.2:p.(Arg61Trp)	NC_000023.10:g.118533547C>T	VUS	1 lab	c17081c730
3:126201291 UROC1 T>C	3	126201291	126201291	T	C	UROC1	c.2108A>G	NM_001165974.1	NP_001159446.1:p.(Tyr703Cys)	NC_000003.11:g.126201291T>C	VUS	1 lab	c17174837d
9:95040494 IARS1 C>A	9	95040494	95040494	C	A	IARS1	c.820G>T	NM_013417.3	NP_038203.2:p.(Glu274Ter)	NC_000009.11:g.95040494C>A	VUS	1 lab	c171955334
8:3081281 CSMD1 G>A	8	3081281	3081281	G	A	CSMD1	c.4454C>T	NM_033225.6	NP_150094.5:p.(Pro1485Leu)	NC_000008.10:g.3081281G>A	(Likely) benign	1 lab	c172410a01
10:73565723 CDH23 G>T	10	73565723	73565723	G	T	CDH23	c.8033G>T	NM_022124.5	NP_071407.4:p.(Arg2678Leu)	NC_000010.10:g.73565723G>T	VUS	1 lab	c174701832
9:139317624 PMPCA G>C	9	139317624	139317624	G	C	PMPCA	c.1486G>C	NM_015160.2	NP_055975.1:p.(Asp496His)	NC_000009.11:g.139317624G>C	VUS	1 lab	c17477781e
3:126157290 ZXDC T>C	3	126157290	126157290	T	C	ZXDC	c.2505A>G	NM_025112.5	NP_079388.3:p.(Ser835=)	NC_000003.11:g.126157290T>C	(Likely) benign	1 lab	c1748df9ef
22:24950950 GUCD1 C>T	22	24950950	24950950	C	T	GUCD1	c.10G>A	NM_031444.3	NP_113632.2:p.(Glu4Lys)	NC_000022.10:g.24950950C>T	(Likely) benign	1 lab	c1759e407f
5:178421531 GRM6 G>T	5	178421531	178421531	G	T	GRM6	c.415C>A	NM_000843.4	NP_000834.2:p.(Pro139Thr)	NC_000005.9:g.178421531G>T	VUS	1 lab	c1765dc231
4:2834113 SH3BP2 C>T	4	2834113	2834113	C	T	SH3BP2	c.1546C>T	NM_001145855.2	NP_001139327.1:p.(Arg516Trp)	NC_000004.11:g.2834113C>T	VUS	1 lab	c1774514ba
X:149900041 MTMR1 G>T	X	149900041	149900041	G	T	MTMR1	c.841G>T	NM_001306144.3	NP_001293073.1:p.(Asp281Tyr)	NC_000023.10:g.149900041G>T	VUS	1 lab	c177dfe4a8
15:67358553 SMAD3 G>T	15	67358553	67358553	G	T	SMAD3	c.61G>T	NM_005902.3	NP_005893.1:p.(Gly21Cys)	NC_000015.9:g.67358553G>T	VUS	1 lab	c17aa8313d
11:14317367 RRAS2 T>C	11	14317367	14317367	T	C	RRAS2	c.143A>G	NM_012250.6	NP_036382.2:p.(Glu48Gly)	NC_000011.9:g.14317367T>C	VUS	1 lab	c17b991431
21:33060658 SCAF4 T>C	21	33060658	33060658	T	C	SCAF4	c.2005A>G	NM_020706.2	NP_065757.1:p.(Ile669Val)	NC_000021.8:g.33060658T>C	VUS	1 lab	c17c9635f3
5:118862906 HSD17B4 C>G	5	118862906	118862906	C	G	HSD17B4	c.1834C>G	NM_001199291.2	NP_001186220.1:p.(Gln612Glu)	NC_000005.9:g.118862906C>G	VUS	1 lab	c17da3c303
X:49082446 CACNA1F A>G	X	49082446	49082446	A	G	CACNA1F	c.1609T>C	NM_005183.3	NP_005174.2:p.(Leu537=)	NC_000023.10:g.49082446A>G	(Likely) benign	1 lab	c17fb5ed65
X:149671580 MAMLD1 A>G	X	149671580	149671580	A	G	MAMLD1	c.2077A>G	NM_005491.4	NP_005482.2:p.(Arg693Gly)	NC_000023.10:g.149671580A>G	VUS	1 lab	c1815c943c
11:17793877 KCNC1 C>T	11	17793877	17793877	C	T	KCNC1	c.1236C>T	NM_004976.4	NP_004967.1:p.(Ser412=)	NC_000011.9:g.17793877C>T	(Likely) benign	1 lab	c1819d14b5
17:1631700 WDR81 C>A	17	1631700	1631700	C	A	WDR81	c.3447C>A	NM_001163809.1	NP_001157281.1:p.(Ser1149Arg)	NC_000017.10:g.1631700C>A	VUS	1 lab	c181a1914d
12:53189577 KRT3 G>A	12	53189577	53189577	G	A	KRT3	c.250C>T	NM_057088.2	NP_476429.2:p.(Arg84Trp)	NC_000012.11:g.53189577G>A	(Likely) benign	1 lab	c1828495e2
16:57689805 ADGRG1 A>C	16	57689805	57689805	A	C	ADGRG1	c.918A>C	NM_005682.6	NP_005673.3:p.(Gln306His)	NC_000016.9:g.57689805A>C	(Likely) benign	1 lab	c183265ff0
19:9071832 MUC16 G>A	19	9071832	9071832	G	A	MUC16	c.15614C>T	NM_024690.2	NP_078966.2:p.(Thr5205Met)	NC_000019.9:g.9071832G>A	VUS	1 lab	c18337f0d7
5:94852712 SKIC3 G>C	5	94852712	94852712	G	C	SKIC3	c.2344C>G	NM_014639.3	NP_055454.1:p.(Leu782Val)	NC_000005.9:g.94852712G>C	VUS	1 lab	c183cf43ec
3:38061699 PLCD1 C>T	3	38061699	38061699	C	T	PLCD1	c.242G>A	NM_001130964.1	NP_001124436.1:p.(Arg81Gln)	NC_000003.11:g.38061699C>T	(Likely) benign	1 lab	c183e06e7e
2:26688865 OTOF C>T	2	26688865	26688865	C	T	OTOF	c.4580G>A	NM_194248.2	NP_919224.1:p.(Arg1527His)	NC_000002.11:g.26688865C>T	VUS	1 lab	c1855dd4cf
4:187557908 FAT1 C>T	4	187557908	187557908	C	T	FAT1	c.3803G>A	NM_005245.3	NP_005236.2:p.(Arg1268Gln)	NC_000004.11:g.187557908C>T	VUS	1 lab	c18778f29d
18:7023302 LAMA1 G>A	18	7023302	7023302	G	A	LAMA1	c.2562C>T	NM_005559.3	NP_005550.2:p.(Asn854=)	NC_000018.9:g.7023302G>A	(Likely) benign	1 lab	c188f50dde
4:170483300 NEK1 C>T	4	170483300	170483300	C	T	NEK1	c.1068G>A	NM_001199397.1	NP_001186326.1:p.(Arg356=)	NC_000004.11:g.170483300C>T	(Likely) benign	1 lab	c18af45565
X:134948138 CT45A5 C>T	X	134948138	134948138	C	T	CT45A5				NC_000023.10:g.134948138C>T	(Likely) benign	1 lab	c18bc78dac
2:219000174 CXCR2 C>T	2	219000174	219000174	C	T	CXCR2	c.650C>T	NM_001557.4	NP_001548.1:p.(Ser217Phe)	NC_000002.11:g.219000174C>T	(Likely) benign	1 lab	c18bfac76a
11:74716657 NEU3 G>A	11	74716657	74716657	G	A	NEU3	c.506G>A	NM_006656.6	NP_006647.3:p.(Cys169Tyr)	NC_000011.9:g.74716657G>A	(Likely) benign	1 lab	c18cb99b4e
5:38975686 RICTOR A>C	5	38975686	38975686	A	C	RICTOR	c.842T>G	NM_001285439.1	NP_001272368.1:p.(Phe281Cys)	NC_000005.9:g.38975686A>C	VUS	1 lab	c18d315c85
1:25228747 RUNX3 C>T	1	25228747	25228747	C	T	RUNX3	c.1156G>A	NM_001031680.2	NP_001026850.1:p.(Ala386Thr)	NC_000001.10:g.25228747C>T	(Likely) benign	1 lab	c190cc6fb1
8:100865880 VPS13B G>A	8	100865880	100865880	G	A	VPS13B	c.10338G>A	NM_017890.4	NP_060360.3:p.(Glu3446=)	NC_000008.10:g.100865880G>A	(Likely) benign	1 lab	c19220155a
16:84188224 DNAAF1 G>A	16	84188224	84188224	G	A	DNAAF1	c.395G>A	NM_178452.5	NP_848547.4:p.(Arg132His)	NC_000016.9:g.84188224G>A	VUS	1 lab	c192cb0a78
1:103573654 COL11A1 G>A	1	103573654	103573654	G	A	COL11A1	c.81C>T	NM_080629.2	NP_542196.2:p.(Leu27=)	NC_000001.10:g.103573654G>A	(Likely) benign	1 lab	c1932f1631
X:131212515 FRMD7 T>G	X	131212515	131212515	T	G	FRMD7	c.1530A>C	NM_194277.2	NP_919253.1:p.(Pro510=)	NC_000023.10:g.131212515T>G	(Likely) benign	1 lab	c19332e3ab
3:186974547 MASP1 C>A	3	186974547	186974547	C	A	MASP1	c.649G>T	NM_001879.5	NP_001870.3:p.(Glu217Ter)	NC_000003.11:g.186974547C>A	(Likely) pathogenic	1 lab	c193ec29f2
4:123855726 AFG2A C>G	4	123855726	123855726	C	G	AFG2A	c.980C>G	NM_145207.2	NP_660208.2:p.(Ser327Cys)	NC_000004.11:g.123855726C>G	(Likely) benign	1 lab	c194ff0e80
X:135314078 MAP7D3 C>T	X	135314078	135314078	C	T	MAP7D3	c.933G>A	NM_001173517.1	NP_001166988.1:p.(Ser311=)	NC_000023.10:g.135314078C>T	(Likely) benign	1 lab	c195109f39
14:23315116 MMP14 G>A	14	23315116	23315116	G	A	MMP14	c.1617G>A	NM_004995.3	NP_004986.1:p.(Ala539=)	NC_000014.8:g.23315116G>A	(Likely) benign	1 lab	c1952ecf95
22:19711799 GP1BB C>T	22	19711799	19711799	C	T	GP1BB	c.433C>T	NM_000407.4	NP_000398.1:p.(Pro145Ser)	NC_000022.10:g.19711799C>T	(Likely) benign	1 lab	c1978c5fa5
11:64950192 CAPN1 C>T	11	64950192	64950192	C	T	CAPN1	c.20C>T	NM_001198868.1	NP_001185797.1:p.(Thr7Met)	NC_000011.9:g.64950192C>T	VUS	1 lab	c198563da2
12:132426276 PUS1 G>A	12	132426276	132426276	G	A	PUS1	c.984G>A	NM_025215.5	NP_079491.2:p.(Ala328=)	NC_000012.11:g.132426276G>A	(Likely) benign	1 lab	c199d551ee
1:116310990 CASQ2 T>A	1	116310990	116310990	T	A	CASQ2	c.173A>T	NM_001232.3	NP_001223.2:p.(Glu58Val)	NC_000001.10:g.116310990T>A	VUS	1 lab	c19a8c82d7
9:135781167 TSC1 G>A	9	135781167	135781167	G	A	TSC1	c.1798C>T	NM_000368.4	NP_000359.1:p.(Gln600Ter)	NC_000009.11:g.135781167G>A	(Likely) pathogenic	1 lab	c19aa713af
21:46952051 SLC19A1 C>G	21	46952051	46952051	C	G	SLC19A1	c.201G>C	NM_194255.3	NP_919231.1:p.(Glu67Asp)	NC_000021.8:g.46952051C>G	VUS	1 lab	c19c2e807a
12:49444817 KMT2D G>T	12	49444817	49444817	G	T	KMT2D	c.2649C>A	NM_003482.3	NP_003473.3:p.(Phe883Leu)	NC_000012.11:g.49444817G>T	(Likely) benign	1 lab	c19c3c66e9
2:179468603 TTN A>C	2	179468603	179468603	A	C	TTN	c.54811T>G	NM_001267550.1	NP_001254479.1:p.(Phe18271Val)	NC_000002.11:g.179468603A>C	VUS	1 lab	c19c3caf3c
7:117304822 CFTR TG>T	7	117304822	117304824	TG	T	CFTR	c.4046del	NM_000492.4	NP_000483.3:p.(Gly1349AlafsTer5)	NC_000007.13:g.117304824del	(Likely) pathogenic	1 lab	c19c6bdf53
X:12712534 FRMPD4 A>G	X	12712534	12712534	A	G	FRMPD4	c.894A>G	NM_014728.3	NP_055543.2:p.(Leu298=)	NC_000023.10:g.12712534A>G	(Likely) benign	1 lab	c19ca8b9c7
8:106811171 ZFPM2 A>G	8	106811171	106811171	A	G	ZFPM2	c.563A>G	NM_001362837.1	NP_001349766.1:p.(His188Arg)	NC_000008.10:g.106811171A>G	VUS	1 lab	c19d1eb1ca
15:64067202 HERC1 T>C	15	64067202	64067202	T	C	HERC1	c.621A>G	NM_003922.3	NP_003913.3:p.(Ser207=)	NC_000015.9:g.64067202T>C	(Likely) benign	1 lab	c19eee585f
X:23018781 DDX53 A>G	X	23018781	23018781	A	G	DDX53	c.607A>G	NM_182699.3	NP_874358.2:p.(Ile203Val)	NC_000023.10:g.23018781A>G	(Likely) benign	1 lab	c1a026cbe8
8:59492223 SDCBP G>C	8	59492223	59492223	G	C	SDCBP	c.680G>C	NM_001330537.1	NP_001317466.1:p.(Gly227Ala)	NC_000008.10:g.59492223G>C	VUS	1 lab	c1a0571192
13:23913081 SACS C>A	13	23913081	23913081	C	A	SACS	c.4934G>T	NM_014363.5	NP_055178.3:p.(Arg1645Leu)	NC_000013.10:g.23913081C>A	VUS	1 lab	c1a1170995
3:155547680 SLC33A1 T>C	3	155547680	155547680	T	C	SLC33A1	c.1279A>G	NM_004733.3	NP_004724.1:p.(Ser427Gly)	NC_000003.11:g.155547680T>C	VUS	1 lab	c1a216fa53
6:32805852 TAP2 T>C	6	32805852	32805852	T	C	TAP2	c.159A>G	NM_001290043.1	NP_001276972.1:p.(Leu53=)	NC_000006.11:g.32805852T>C	(Likely) benign	1 lab	c1a3c8fafe
1:94466455 ABCA4 C>T	1	94466455	94466455	C	T	ABCA4	c.6416G>A	NM_000350.2	NP_000341.2:p.(Arg2139Gln)	NC_000001.10:g.94466455C>T	VUS	1 lab	c1a40bebf3
X:57162331 SPIN2A T>C	X	57162331	57162331	T	C	SPIN2A	c.700A>G	NM_019003.3	NP_061876.3:p.(Thr234Ala)	NC_000023.10:g.57162331T>C	(Likely) benign	1 lab	c1a5ae8947
17:7496839 FXR2 G>A	17	7496839	7496839	G	A	FXR2	c.1212C>T	NM_004860.3	NP_004851.2:p.(Ser404=)	NC_000017.10:g.7496839G>A	(Likely) benign	1 lab	c1a6fd4a3c
6:51613152 PKHD1 C>T	6	51613152	51613152	C	T	PKHD1	c.9262G>A	NM_138694.3	NP_619639.3:p.(Asp3088Asn)	NC_000006.11:g.51613152C>T	(Likely) benign	1 lab	c1a7e61e9b
X:40456515 ATP6AP2 T>G	X	40456515	40456515	T	G	ATP6AP2	c.315T>G	NM_005765.2	NP_005756.2:p.(Ser105Arg)	NC_000023.10:g.40456515T>G	VUS	1 lab	c1aa99c6f6
1:248813452 OR2T27 ATG>A	1	248813452	248813458	ATG	A	OR2T27	c.732_733del	NM_001001824.2	NP_001001824.1:p.(Met245GlyfsTer24)	NC_000001.10:g.248813457_248813458del	VUS	1 lab	c1aacca311
12:124293410 DNAH10 G>C	12	124293410	124293410	G	C	DNAH10	c.2700G>C	NM_207437.3	NP_997320.2:p.(Leu900=)	NC_000012.11:g.124293410G>C	(Likely) benign	1 lab	c1ab598b8a
17:30357714 LRRC37B A>T	17	30357714	30357714	A	T	LRRC37B	c.1617A>T	NM_001321350.1	NP_001308279.1:p.(Gln539His)	NC_000017.10:g.30357714A>T	(Likely) benign	1 lab	c1ab6b0609
20:62203546 HELZ2 C>T	20	62203546	62203546	C	T	HELZ2	c.193G>A	NM_001037335.2	NP_001032412.2:p.(Ala65Thr)	NC_000020.10:g.62203546C>T	(Likely) benign	1 lab	c1ad5260d1
11:18313291 HPS5 GGAC>G	11	18313291	18313294	GGAC	G	HPS5	c.2135_2137del	NM_181507.2	NP_852608.1:p.(Ser712_Pro713delinsThr)	NC_000011.9:g.18313292_18313294del	VUS	1 lab	c1ad5d4fbe
20:10621489 JAG1 C>T	20	10621489	10621489	C	T	JAG1	c.3141G>A	NM_000214.3	NP_000205.1:p.(Ser1047=)	NC_000020.10:g.10621489C>T	(Likely) benign	1 lab	c1ae5480a2
12:113345007 OAS1 G>A	12	113345007	113345007	G	A	OAS1	c.163G>A	NM_016816.3	NP_058132.2:p.(Val55Met)	NC_000012.11:g.113345007G>A	VUS	1 lab	c1aee1481f
11:118963113 HMBS G>C	11	118963113	118963113	G	C	HMBS	c.652-1G>C	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118963113G>C	(Likely) pathogenic	1 lab	c1af2a26d1
11:6586001 DNHD1 C>T	11	6586001	6586001	C	T	DNHD1	c.10723C>T	NM_144666.2	NP_653267.2:p.(Arg3575Ter)	NC_000011.9:g.6586001C>T	VUS	1 lab	c1afc162bb
7:70254892 AUTS2 A>G	7	70254892	70254892	A	G	AUTS2	c.2618A>G	NM_001127231.2	NP_001120703.1:p.(His873Arg)	NC_000007.13:g.70254892A>G	VUS	1 lab	c1aff523bd
17:18022826 MYO15A T>G	17	18022826	18022826	T	G	MYO15A	c.712T>G	NM_016239.3	NP_057323.3:p.(Tyr238Asp)	NC_000017.10:g.18022826T>G	VUS	1 lab	c1b079543f
X:153596066 FLNA G>A	X	153596066	153596066	G	A	FLNA	c.663C>T	NM_001110556.2	NP_001104026.1:p.(Pro221=)	NC_000023.10:g.153596066G>A	(Likely) benign	1 lab	c1b35a5f31
15:63990987 HERC1 A>G	15	63990987	63990987	A	G	HERC1	c.4845T>C	NM_003922.3	NP_003913.3:p.(Ser1615=)	NC_000015.9:g.63990987A>G	(Likely) benign	1 lab	c1b45c6240
10:97963824 BLNK A>G	10	97963824	97963824	A	G	BLNK	c.923T>C	NM_013314.3	NP_037446.1:p.(Ile308Thr)	NC_000010.10:g.97963824A>G	(Likely) benign	1 lab	c1b48d3d31
20:48140700 PTGIS G>A	20	48140700	48140700	G	A	PTGIS	c.750C>T	NM_000961.3	NP_000952.1:p.(Ala250=)	NC_000020.10:g.48140700G>A	(Likely) benign	1 lab	c1b6f44101
X:114427033 RBMXL3 G>A	X	114427033	114427033	G	A	RBMXL3	c.3029G>A	NM_001145346.1	NP_001138818.1:p.(Arg1010His)	NC_000023.10:g.114427033G>A	VUS	1 lab	c1b7d5b36f
7:107431527 SLC26A3 G>A	7	107431527	107431527	G	A	SLC26A3	c.536C>T	NM_000111.2	NP_000102.1:p.(Ala179Val)	NC_000007.13:g.107431527G>A	VUS	1 lab	c1b88441f2
12:9013534 A2ML1 A>T	12	9013534	9013534	A	T	A2ML1	c.3322A>T	NM_144670.5	NP_653271.2:p.(Met1108Leu)	NC_000012.11:g.9013534A>T	(Likely) benign	1 lab	c1bb356f0b
12:49428269 KMT2D G>C	12	49428269	49428269	G	C	KMT2D	c.10441-10C>G	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49428269G>C	VUS	1 lab	c1bb39a360
3:122432717 PARP14 A>AG	3	122432717	122432721	A	AG	PARP14	c.3772dup	NM_017554.2	NP_060024.2:p.(Val1258GlyfsTer27)	NC_000003.11:g.122432721dup	VUS	1 lab	c1bd391803
2:179400483 TTN C>G	2	179400483	179400483	C	G	TTN	c.100859G>C	NM_001267550.1	NP_001254479.1:p.(Ser33620Thr)	NC_000002.11:g.179400483C>G	VUS	1 lab	c1bd55e644
1:152283430 FLG A>G	1	152283430	152283430	A	G	FLG	c.3932T>C	NM_002016.1	NP_002007.1:p.(Phe1311Ser)	NC_000001.10:g.152283430A>G	(Likely) benign	1 lab	c1bdaf46a1
14:39536382 SEC23A T>C	14	39536382	39536382	T	C	SEC23A	c.1222A>G	NM_006364.3	NP_006355.2:p.(Ile408Val)	NC_000014.8:g.39536382T>C	(Likely) benign	1 lab	c1be95bc24
4:1388378 CRIPAK T>TAC	4	1388378	1388379	T	TAC	CRIPAK	c.79_80insAC	NM_175918.3	NP_787114.2:p.(Cys27TyrfsTer164)	NC_000004.11:g.1388378_1388379insAC	(Likely) benign	1 lab	c1c03c99a2
17:5462984 NLRP1 G>A	17	5462984	5462984	G	A	NLRP1	c.1032C>T	NM_033004.4	NP_127497.1:p.(Ala344=)	NC_000017.10:g.5462984G>A	(Likely) benign	1 lab	c1c0b56ca6
11:66460870 SPTBN2 C>T	11	66460870	66460870	C	T	SPTBN2	c.4641G>A	NM_006946.3	NP_008877.1:p.(Leu1547=)	NC_000011.9:g.66460870C>T	(Likely) benign	1 lab	c1c2030aa1
8:38105273 DDHD2 C>T	8	38105273	38105273	C	T	DDHD2	c.1168C>T	NM_015214.2	NP_056029.2:p.(Leu390=)	NC_000008.10:g.38105273C>T	(Likely) benign	1 lab	c1c251da98
15:28369237 HERC2 G>A	15	28369237	28369237	G	A	HERC2	c.13134C>T	NM_004667.5	NP_004658.3:p.(Leu4378=)	NC_000015.9:g.28369237G>A	(Likely) benign	1 lab	c1c2bdf54b
10:61834860 ANK3 TCTC>T	10	61834860	61834866	TCTC	T	ANK3	c.5776_5778del	NM_020987.5	NP_066267.2:p.(Glu1926del)	NC_000010.10:g.61834864_61834866del	VUS	1 lab	c1c2c41445
5:89989708 ADGRV1 G>C	5	89989708	89989708	G	C	ADGRV1	c.7135G>C	NM_032119.4	NP_115495.3:p.(Gly2379Arg)	NC_000005.9:g.89989708G>C	VUS	1 lab	c1c33e4e32
11:124500693 TBRG1 T>C	11	124500693	124500693	T	C	TBRG1	c.889T>C	NM_032811.3	NP_116200.2:p.(Ser297Pro)	NC_000011.9:g.124500693T>C	VUS	1 lab	c1c35dc961
2:170092515 LRP2 G>A	2	170092515	170092515	G	A	LRP2	c.4755C>T	NM_004525.3	NP_004516.2:p.(Asp1585=)	NC_000002.11:g.170092515G>A	(Likely) benign	1 lab	c1c52a31a9
7:5372354 TNRC18 T>C	7	5372354	5372354	T	C	TNRC18	c.6046A>G	NM_001080495.2	NP_001073964.2:p.(Ser2016Gly)	NC_000007.13:g.5372354T>C	(Likely) benign	1 lab	c1c88d33c3
19:50364580 PNKP G>A	19	50364580	50364580	G	A	PNKP	c.1491C>T	NM_007254.3	NP_009185.2:p.(Ala497=)	NC_000019.9:g.50364580G>A	(Likely) benign	1 lab	c1c9209a1b
17:3654949 ITGAE AG>A	17	3654949	3654953	AG	A	ITGAE	c.1887del	NM_002208.5	NP_002199.3:p.(Ser630ArgfsTer53)	NC_000017.10:g.3654953del	VUS	1 lab	c1c9449cd2
16:30078229 ALDOA G>A	16	30078229	30078229	G	A	ALDOA	c.11G>A	NM_001243177.1	NP_001230106.1:p.(Arg4His)	NC_000016.9:g.30078229G>A	(Likely) benign	1 lab	c1cb1cc8ff
X:56310897 KLF8 C>T	X	56310897	56310897	C	T	KLF8	c.1050C>T	NM_007250.5	NP_009181.2:p.(Ser350=)	NC_000023.10:g.56310897C>T	(Likely) benign	1 lab	c1cbd7f67a
4:6302797 WFS1 C>T	4	6302797	6302797	C	T	WFS1	c.1275C>T	NM_006005.3	NP_005996.2:p.(Asp425=)	NC_000004.11:g.6302797C>T	(Likely) benign	1 lab	c1cbdbae9f
5:10256251 CCT5 G>A	5	10256251	10256251	G	A	CCT5	c.351G>A	NM_001306154.1	NP_001293083.1:p.(Thr117=)	NC_000005.9:g.10256251G>A	(Likely) benign	1 lab	c1cc7956b9
1:181764092 MISSING G>A	1	181764092	181764092	G	A	MISSING				NC_000001.10:g.181764092G>A	(Likely) benign	1 lab	c1cc992d4c
21:47786568 PCNT C>T	21	47786568	47786568	C	T	PCNT	c.2679C>T	NM_006031.5	NP_006022.3:p.(Ala893=)	NC_000021.8:g.47786568C>T	(Likely) benign	1 lab	c1cd784e80
11:88027247 CTSC C>T	11	88027247	88027247	C	T	CTSC	c.1319G>A	NM_001814.4	NP_001805.3:p.(Arg440Gln)	NC_000011.9:g.88027247C>T	VUS	1 lab	c1ceb1c322
22:41548242 EP300 C>G	22	41548242	41548242	C	G	EP300	c.3030C>G	NM_001429.3	NP_001420.2:p.(Thr1010=)	NC_000022.10:g.41548242C>G	(Likely) benign	1 lab	c1cf150966
8:21977360 HR C>T	8	21977360	21977360	C	T	HR	c.2890G>A	NM_005144.4	NP_005135.2:p.(Ala964Thr)	NC_000008.10:g.21977360C>T	(Likely) benign	1 lab	c1d04a8f15
6:66204904 EYS G>A	6	66204904	66204904	G	A	EYS	c.400C>T	NM_001292009.1	NP_001278938.1:p.(His134Tyr)	NC_000006.11:g.66204904G>A	(Likely) benign	1 lab	c1d0b1769c
1:40533303 CAP1 C>T	1	40533303	40533303	C	T	CAP1	c.722C>T	NM_001350479.1	NP_001337408.1:p.(Pro241Leu)	NC_000001.10:g.40533303C>T	(Likely) benign	1 lab	c1d3d49823
17:41267797 BRCA1 C>G	17	41267797	41267797	C	G	BRCA1	c.81-1G>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267797C>G	(Likely) pathogenic	1 lab	795d2ce54f
4:71691848 GRSF1 A>G	4	71691848	71691848	A	G	GRSF1	c.1250T>C	NM_002092.4	NP_002083.4:p.(Ile417Thr)	NC_000004.11:g.71691848A>G	VUS	1 lab	c1d6af11a1
12:124820043 NCOR2 C>T	12	124820043	124820043	C	T	NCOR2	c.6251G>A	NM_006312.5	NP_006303.4:p.(Arg2084Gln)	NC_000012.11:g.124820043C>T	VUS	1 lab	c1dc0670b2
3:47047109 NBEAL2 G>A	3	47047109	47047109	G	A	NBEAL2	c.6691G>A	NM_015175.2	NP_055990.1:p.(Gly2231Ser)	NC_000003.11:g.47047109G>A	VUS	1 lab	c1dc7d3fc5
10:112572077 RBM20 G>A	10	112572077	112572077	G	A	RBM20	c.1922G>A	NM_001134363.1	NP_001127835.1:p.(Arg641Gln)	NC_000010.10:g.112572077G>A	(Likely) benign	1 lab	c1dcc442aa
20:36641471 TTI1 C>T	20	36641471	36641471	C	T	TTI1	c.748G>A	NM_014657.2	NP_055472.1:p.(Glu250Lys)	NC_000020.10:g.36641471C>T	(Likely) benign	1 lab	c1dcf12c54
14:95570007 DICER1 G>T	14	95570007	95570007	G	T	DICER1	c.3726C>A	NM_030621.4	NP_085124.2:p.(Tyr1242Ter)	NC_000014.8:g.95570007G>T	(Likely) pathogenic	1 lab	c1e09a4ebb
6:144809863 UTRN G>C	6	144809863	144809863	G	C	UTRN	c.4027G>C	NM_007124.2	NP_009055.2:p.(Asp1343His)	NC_000006.11:g.144809863G>C	VUS	1 lab	c1e1072bfa
2:220366603 GMPPA A>AG	2	220366603	220366608	A	AG	GMPPA	c.278dup	NM_205847.2	NP_995319.1:p.(Gly94TrpfsTer23)	NC_000002.11:g.220366608dup	(Likely) pathogenic	1 lab	c1e2a312c1
16:75678205 KARS1 T>G	16	75678205	75678205	T	G	KARS1	c.122A>C	NM_001130089.1	NP_001123561.1:p.(Asp41Ala)	NC_000016.9:g.75678205T>G	VUS	1 lab	c1e46c11de
9:140729243 EHMT1 C>T	9	140729243	140729243	C	T	EHMT1	c.3735C>T	NM_024757.4	NP_079033.4:p.(Arg1245=)	NC_000009.11:g.140729243C>T	(Likely) benign	1 lab	c1e4d24501
17:33477159 UNC45B G>A	17	33477159	33477159	G	A	UNC45B	c.298G>A	NM_001033576.1	NP_001028748.1:p.(Val100Met)	NC_000017.10:g.33477159G>A	(Likely) benign	1 lab	c1e7b5aa4c
15:73621994 HCN4 T>C	15	73621994	73621994	T	C	HCN4	c.1510A>G	NM_005477.2	NP_005468.1:p.(Thr504Ala)	NC_000015.9:g.73621994T>C	VUS	1 lab	c1e7eb4398
1:65855124 DNAJC6 C>G	1	65855124	65855124	C	G	DNAJC6	c.1379C>G	NM_001256864.2	NP_001243793.1:p.(Ala460Gly)	NC_000001.10:g.65855124C>G	VUS	1 lab	c1e9093b3e
X:16188865 MAGEB17 C>T	X	16188865	16188865	C	T	MAGEB17	c.360C>T	NM_001277307.1	NP_001264236.1:p.(Leu120=)	NC_000023.10:g.16188865C>T	(Likely) benign	1 lab	c1e9a793ef
22:37318305 CSF2RB G>A	22	37318305	37318305	G	A	CSF2RB	c.56G>A	NM_000395.2	NP_000386.1:p.(Arg19His)	NC_000022.10:g.37318305G>A	(Likely) benign	1 lab	c1ebb1c3f5
7:92735029 SAMD9 T>C	7	92735029	92735029	T	C	SAMD9	c.382A>G	NM_017654.3	NP_060124.2:p.(Met128Val)	NC_000007.13:g.92735029T>C	VUS	1 lab	c1ebfe6c84
12:112036979 ATXN2 G>A	12	112036979	112036979	G	A	ATXN2	c.340C>T	NM_002973.3	NP_002964.3:p.(Pro114Ser)	NC_000012.11:g.112036979G>A	(Likely) benign	1 lab	c1ec29c219
12:40499310 SLC2A13 C>T	12	40499310	40499310	C	T	SLC2A13	c.301G>A	NM_052885.4	NP_443117.3:p.(Val101Met)	NC_000012.11:g.40499310C>T	VUS	1 lab	c1ecbe20ae
10:95400710 PDE6C G>A	10	95400710	95400710	G	A	PDE6C	c.1771G>A	NM_006204.3	NP_006195.3:p.(Glu591Lys)	NC_000010.10:g.95400710G>A	VUS	1 lab	c1ecff09ab
X:148627415 EOLA1 G>A	X	148627415	148627415	G	A	EOLA1	c.239G>A	NM_001171907.3	NP_001165378.1:p.(Arg80Gln)	NC_000023.10:g.148627415G>A	VUS	1 lab	c1ee544526
X:129150163 BCORL1 G>A	X	129150163	129150163	G	A	BCORL1	c.3415G>A	NM_001184772.2	NP_001171701.1:p.(Val1139Met)	NC_000023.10:g.129150163G>A	(Likely) benign	1 lab	c1f064c6ca
X:153207048 RENBP G>C	X	153207048	153207048	G	C	RENBP	c.828C>G	NM_002910.5	NP_002901.2:p.(Pro276=)	NC_000023.10:g.153207048G>C	(Likely) benign	1 lab	c1f0c9eea6
12:105521024 WASHC4 C>G	12	105521024	105521024	C	G	WASHC4	c.1156C>G	NM_001293640.1	NP_001280569.1:p.(His386Asp)	NC_000012.11:g.105521024C>G	(Likely) benign	1 lab	c1f1eddf25
17:44143935 KANSL1 G>A	17	44143935	44143935	G	A	KANSL1	c.1816C>T	NM_001193466.1	NP_001180395.1:p.(Arg606Ter)	NC_000017.10:g.44143935G>A	(Likely) pathogenic	1 lab	c1f2d11ff8
4:1348622 UVSSA G>T	4	1348622	1348622	G	T	UVSSA	c.1034G>T	NM_020894.3	NP_065945.2:p.(Cys345Phe)	NC_000004.11:g.1348622G>T	(Likely) benign	1 lab	c1f40b9711
X:16775423 SYAP1 G>A	X	16775423	16775423	G	A	SYAP1	c.922G>A	NM_032796.3	NP_116185.2:p.(Val308Ile)	NC_000023.10:g.16775423G>A	(Likely) benign	1 lab	c1f450a362
7:88423597 TEX47 G>A	7	88423597	88423597	G	A	TEX47	c.660C>T	NM_152706.4	NP_689919.1:p.(Ser220=)	NC_000007.13:g.88423597G>A	(Likely) benign	1 lab	c1f634e5d9
16:15811148 MYH11 T>A	16	15811148	15811148	T	A	MYH11	c.5374A>T	NM_001040113.1	NP_001035202.1:p.(Ser1792Cys)	NC_000016.9:g.15811148T>A	VUS	1 lab	c1f68d723e
6:74345220 SLC17A5 G>A	6	74345220	74345220	G	A	SLC17A5	c.704C>T	NM_012434.4	NP_036566.1:p.(Thr235Ile)	NC_000006.11:g.74345220G>A	(Likely) benign	1 lab	c1f889cd7b
19:51171013 SHANK1 C>T	19	51171013	51171013	C	T	SHANK1	c.4204G>A	NM_016148.4	NP_057232.2:p.(Glu1402Lys)	NC_000019.9:g.51171013C>T	VUS	1 lab	c1f895eca8
11:93530827 MED17 A>C	11	93530827	93530827	A	C	MED17	c.1270A>C	NM_004268.4	NP_004259.3:p.(Ser424Arg)	NC_000011.9:g.93530827A>C	VUS	1 lab	c1faa6381b
2:202060651 CASP10 A>G	2	202060651	202060651	A	G	CASP10	c.664A>G	NM_032977.3	NP_116759.2:p.(Thr222Ala)	NC_000002.11:g.202060651A>G	(Likely) benign	1 lab	c1fb7b96b4
5:1334488 CLPTM1L C>A	5	1334488	1334488	C	A	CLPTM1L	c.807G>T	NM_030782.4	NP_110409.2:p.(Glu269Asp)	NC_000005.9:g.1334488C>A	(Likely) benign	1 lab	c1fbf82b49
X:102962294 GLRA4 G>A	X	102962294	102962294	G	A	GLRA4	c.1232C>T	NM_001024452.2	NP_001019623.2:p.(Thr411Met)	NC_000023.10:g.102962294G>A	(Likely) benign	1 lab	c1fd771bf6
X:48758481 PQBP1 A>G	X	48758481	48758481	A	G	PQBP1	c.82A>G	NM_005710.2	NP_005701.1:p.(Ile28Val)	NC_000023.10:g.48758481A>G	VUS	1 lab	c1fe1a0d3d
19:7293864 INSR C>G	19	7293864	7293864	C	G	INSR	c.39G>C	NM_000208.3	NP_000199.2:p.(Pro13=)	NC_000019.9:g.7293864C>G	(Likely) benign	1 lab	c1fed84e86
11:1269201 MUC5B C>G	11	1269201	1269201	C	G	MUC5B	c.11091C>G	NM_002458.2	NP_002449.2:p.(Thr3697=)	NC_000011.9:g.1269201C>G	(Likely) benign	1 lab	c1fff55c16
7:128496863 FLNC C>T	7	128496863	128496863	C	T	FLNC	c.7449C>T	NM_001458.4	NP_001449.3:p.(Asn2483=)	NC_000007.13:g.128496863C>T	(Likely) benign	1 lab	c2017d3d09
8:38940170 ADAM9 A>G	8	38940170	38940170	A	G	ADAM9	c.1892A>G	NM_003816.2	NP_003807.1:p.(Asn631Ser)	NC_000008.10:g.38940170A>G	VUS	1 lab	c202c18667
X:150911806 CNGA2 C>A	X	150911806	150911806	C	A	CNGA2	c.831C>A	NM_005140.1	NP_005131.1:p.(Asn277Lys)	NC_000023.10:g.150911806C>A	VUS	1 lab	c202c301e4
20:35579933 SAMHD1 G>C	20	35579933	35579933	G	C	SAMHD1	c.114C>G	NM_015474.3	NP_056289.2:p.(Leu38=)	NC_000020.10:g.35579933G>C	(Likely) benign	1 lab	c202c7c851
11:120996189 TECTA G>A	11	120996189	120996189	G	A	TECTA	c.1382G>A	NM_005422.2	NP_005413.2:p.(Cys461Tyr)	NC_000011.9:g.120996189G>A	VUS	1 lab	c202f8f50e
19:55667978 TNNI3 T>G	19	55667978	55667978	T	G	TNNI3	c.143A>C	NM_000363.4	NP_000354.4:p.(Gln48Pro)	NC_000019.9:g.55667978T>G	VUS	1 lab	c2042ddae5
9:139324737 INPP5E C>A	9	139324737	139324737	C	A	INPP5E	c.1794G>T	NM_019892.5	NP_063945.2:p.(Gly598=)	NC_000009.11:g.139324737C>A	(Likely) benign	1 lab	c20436e106
1:153177214 LELP1 G>T	1	153177214	153177214	G	T	LELP1	c.31G>T	NM_001010857.3	NP_001010857.1:p.(Asp11Tyr)	NC_000001.10:g.153177214G>T	VUS	1 lab	c20989ee50
1:17322793 ATP13A2 G>C	1	17322793	17322793	G	C	ATP13A2	c.1309C>G	NM_022089.2	NP_071372.1:p.(Leu437Val)	NC_000001.10:g.17322793G>C	(Likely) benign	1 lab	c20a34deab
9:135772874 TSC1 C>G	9	135772874	135772874	C	G	TSC1	c.2749G>C	NM_000368.4	NP_000359.1:p.(Ala917Pro)	NC_000009.11:g.135772874C>G	(Likely) benign	1 lab	c20b1a722f
17:70120551 SOX9 A>C	17	70120551	70120551	A	C	SOX9	c.*23A>C	NM_000346.3	NP_000337.1:p.?	NC_000017.10:g.70120551A>C	(Likely) benign	1 lab	c20b637287
12:124831223 NCOR2 C>T	12	124831223	124831223	C	T	NCOR2	c.4246G>A	NM_006312.5	NP_006303.4:p.(Ala1416Thr)	NC_000012.11:g.124831223C>T	VUS	1 lab	c20b9a4811
20:25058335 VSX1 G>T	20	25058335	25058335	G	T	VSX1	c.794C>A	NM_001256272.1	NP_001243201.1:p.(Ala265Glu)	NC_000020.10:g.25058335G>T	VUS	1 lab	c20bfdd7e0
9:96021423 WNK2 C>G	9	96021423	96021423	C	G	WNK2	c.2593C>G	NM_001282394.1	NP_001269323.1:p.(Pro865Ala)	NC_000009.11:g.96021423C>G	(Likely) benign	1 lab	c20f41fd52
2:32289034 SPAST C>A	2	32289034	32289034	C	A	SPAST	c.134C>A	NM_014946.3	NP_055761.2:p.(Pro45Gln)	NC_000002.11:g.32289034C>A	(Likely) benign	1 lab	c20faa3c8c
16:58054135 USB1 A>G	16	58054135	58054135	A	G	USB1	c.784A>G	NM_024598.3	NP_078874.2:p.(Met262Val)	NC_000016.9:g.58054135A>G	(Likely) benign	1 lab	c21021d127
6:35773506 LHFPL5 G>A	6	35773506	35773506	G	A	LHFPL5	c.59G>A	NM_182548.4	NP_872354.1:p.(Arg20Gln)	NC_000006.11:g.35773506G>A	VUS	1 lab	c2103580e0
22:33960892 LARGE1 C>T	22	33960892	33960892	C	T	LARGE1	c.729G>A	NM_004737.5	NP_004728.1:p.(Thr243=)	NC_000022.10:g.33960892C>T	(Likely) benign	1 lab	c2142f1cbe
17:74004428 EVPL G>A	17	74004428	74004428	G	A	EVPL	c.4924C>T	NM_001320747.1	NP_001307676.1:p.(Leu1642Phe)	NC_000017.10:g.74004428G>A	VUS	1 lab	c2145d5d28
1:152279015 FLG G>C	1	152279015	152279015	G	C	FLG	c.8347C>G	NM_002016.1	NP_002007.1:p.(Gln2783Glu)	NC_000001.10:g.152279015G>C	VUS	1 lab	c214a8d527
1:27440530 SLC9A1 G>A	1	27440530	27440530	G	A	SLC9A1	c.600C>T	NM_003047.4	NP_003038.2:p.(Asn200=)	NC_000001.10:g.27440530G>A	(Likely) benign	1 lab	c21557b14f
7:103018088 SLC26A5 T>G	7	103018088	103018088	T	G	SLC26A5	c.1944A>C	NM_198999.2	NP_945350.1:p.(Gln648His)	NC_000007.13:g.103018088T>G	(Likely) benign	1 lab	c21b9fabe6
14:68193808 RDH12 G>A	14	68193808	68193808	G	A	RDH12	c.559G>A	NM_152443.2	NP_689656.2:p.(Asp187Asn)	NC_000014.8:g.68193808G>A	VUS	1 lab	c21daca4ba
11:118373505 KMT2A G>C	11	118373505	118373505	G	C	KMT2A	c.6898G>C	NM_001197104.1	NP_001184033.1:p.(Val2300Leu)	NC_000011.9:g.118373505G>C	(Likely) benign	1 lab	c21de48389
X:85213928 CHM G>T	X	85213928	85213928	G	T	CHM	c.313C>A	NM_001362517.1	NP_001349446.1:p.(Arg105=)	NC_000023.10:g.85213928G>T	(Likely) benign	1 lab	c21e2c609c
21:45953746 TSPEAR G>A	21	45953746	45953746	G	A	TSPEAR	c.160C>T	NM_001272037.1	NP_001258966.1:p.(Arg54Trp)	NC_000021.8:g.45953746G>A	VUS	1 lab	c21f9ac7f0
18:55221716 FECH CCT>C	18	55221716	55221718	CCT	C	FECH	c.913-62_913-61del	NM_000140.5	NP_000131.2:p.?	NC_000018.9:g.55221717_55221718del	(Likely) benign	1 lab	c2227116a7
7:107592554 LAMB1 C>T	7	107592554	107592554	C	T	LAMB1	c.3194G>A	NM_002291.2	NP_002282.2:p.(Cys1065Tyr)	NC_000007.13:g.107592554C>T	VUS	1 lab	c222b64774
9:88284501 AGTPBP1 G>A	9	88284501	88284501	G	A	AGTPBP1	c.569-8C>T	NM_001330701.1	NP_001317630.1:p.?	NC_000009.11:g.88284501G>A	(Likely) benign	1 lab	c224b44216
9:117846489 TNC C>T	9	117846489	117846489	C	T	TNC	c.2130G>A	NM_002160.3	NP_002151.2:p.(Thr710=)	NC_000009.11:g.117846489C>T	(Likely) benign	1 lab	c2267480af
15:62251644 VPS13C T>G	15	62251644	62251644	T	G	VPS13C	c.4056+3A>C	NM_001018088.2	NP_001018098.1:p.?	NC_000015.9:g.62251644T>G	VUS	1 lab	c229ce13e4
6:137147583 PEX7 A>G	6	137147583	137147583	A	G	PEX7	c.315A>G	NM_000288.3	NP_000279.1:p.(Gln105=)	NC_000006.11:g.137147583A>G	(Likely) benign	1 lab	c22a33cf6b
11:65308027 LTBP3 G>A	11	65308027	65308027	G	A	LTBP3	c.3036C>T	NM_001130144.2	NP_001123616.1:p.(Asn1012=)	NC_000011.9:g.65308027G>A	(Likely) benign	1 lab	c22dc5571a
19:30193762 C19orf12 T>G	19	30193762	30193762	T	G	C19orf12	c.91A>C	NM_001282931.1	NP_001269860.1:p.(Ile31Leu)	NC_000019.9:g.30193762T>G	VUS	1 lab	c22eb13bdc
X:40456557 ATP6AP2 G>A	X	40456557	40456557	G	A	ATP6AP2	c.357G>A	NM_005765.2	NP_005756.2:p.(Glu119=)	NC_000023.10:g.40456557G>A	(Likely) benign	1 lab	c230931a68
1:27875777 AHDC1 C>T	1	27875777	27875777	C	T	AHDC1	c.2850G>A	NM_001029882.3	NP_001025053.1:p.(Pro950=)	NC_000001.10:g.27875777C>T	(Likely) benign	1 lab	c2336af01c
X:2861189 ARSL A>G	X	2861189	2861189	A	G	ARSL	c.1118T>C	NM_001282628.1	NP_001269557.1:p.(Ile373Thr)	NC_000023.10:g.2861189A>G	(Likely) benign	1 lab	c2368683c9
16:4387426 GLIS2 G>A	16	4387426	4387426	G	A	GLIS2	c.1476G>A	NM_032575.2	NP_115964.2:p.(Thr492=)	NC_000016.9:g.4387426G>A	(Likely) benign	1 lab	c236c53af8
X:107939542 COL4A5 A>G	X	107939542	107939542	A	G	COL4A5	c.5010A>G	NM_033380.2	NP_203699.1:p.(Glu1670=)	NC_000023.10:g.107939542A>G	(Likely) benign	1 lab	c2395a706d
14:51219423 NIN T>A	14	51219423	51219423	T	A	NIN	c.4763A>T	NM_020921.3	NP_065972.3:p.(Gln1588Leu)	NC_000014.8:g.51219423T>A	VUS	1 lab	c239a2417a
10:112541023 RBM20 C>G	10	112541023	112541023	C	G	RBM20	c.656C>G	NM_001134363.1	NP_001127835.1:p.(Thr219Ser)	NC_000010.10:g.112541023C>G	VUS	1 lab	c23b38dbff
6:12120594 HIVEP1 C>T	6	12120594	12120594	C	T	HIVEP1	c.566C>T	NM_002114.4	NP_002105.3:p.(Pro189Leu)	NC_000006.11:g.12120594C>T	VUS	1 lab	c23b97d5da
2:73613117 ALMS1 G>C	2	73613117	73613117	G	C	ALMS1	c.124G>C	NM_015120.4	NP_055935.4:p.(Val42Leu)	NC_000002.11:g.73613117G>C	VUS	1 lab	c23bde0ad1
X:111698033 RTL4 G>A	X	111698033	111698033	G	A	RTL4	c.77G>A	NM_001004308.2	NP_001004308.2:p.(Arg26Gln)	NC_000023.10:g.111698033G>A	VUS	1 lab	c23c99dd40
2:17942763 GEN1 A>G	2	17942763	17942763	A	G	GEN1	c.262A>G	NM_001130009.3	NP_001123481.3:p.(Lys88Glu)	NC_000002.11:g.17942763A>G	VUS	1 lab	c23d1bf453
15:78449915 IDH3A G>T	15	78449915	78449915	G	T	IDH3A	c.116G>T	NM_005530.3	NP_005521.1:p.(Gly39Val)	NC_000015.9:g.78449915G>T	VUS	1 lab	c23e590f48
2:216203501 ATIC G>T	2	216203501	216203501	G	T	ATIC	c.1099-1G>T	NM_004044.6	NP_004035.2:p.?	NC_000002.11:g.216203501G>T	(Likely) pathogenic	1 lab	c23fdd2159
X:48544512 WAS G>A	X	48544512	48544512	G	A	WAS	c.548G>A	NM_000377.2	NP_000368.1:p.(Gly183Glu)	NC_000023.10:g.48544512G>A	VUS	1 lab	c240aad79f
1:186031713 HMCN1 G>A	1	186031713	186031713	G	A	HMCN1	c.7494G>A	NM_031935.2	NP_114141.2:p.(Thr2498=)	NC_000001.10:g.186031713G>A	(Likely) benign	1 lab	c241138c9a
2:166740361 TTC21B T>C	2	166740361	166740361	T	C	TTC21B	c.3627A>G	NM_024753.4	NP_079029.3:p.(Gln1209=)	NC_000002.11:g.166740361T>C	(Likely) benign	1 lab	c24122d084
7:117232649 CFTR A>G	7	117232649	117232649	A	G	CFTR	c.2428A>G	NM_000492.3	NP_000483.3:p.(Arg810Gly)	NC_000007.13:g.117232649A>G	VUS	1 lab	c2420f392b
7:107604994 LAMB1 C>G	7	107604994	107604994	C	G	LAMB1	c.1698+3G>C	NM_002291.2	NP_002282.2:p.?	NC_000007.13:g.107604994C>G	VUS	1 lab	c24333b86e
6:56504561 DST G>A	6	56504561	56504561	G	A	DST	c.2531C>T	NM_001144769.2	NP_001138241.1:p.(Thr844Ile)	NC_000006.11:g.56504561G>A	VUS	1 lab	c2439bcf78
5:135392449 TGFBI G>A	5	135392449	135392449	G	A	TGFBI	c.1643G>A	NM_000358.2	NP_000349.1:p.(Arg548Gln)	NC_000005.9:g.135392449G>A	(Likely) benign	1 lab	c2453c4408
9:134503381 RAPGEF1 G>C	9	134503381	134503381	G	C	RAPGEF1	c.1123C>G	NM_198679.1	NP_941372.1:p.(Leu375Val)	NC_000009.11:g.134503381G>C	VUS	1 lab	c246787911
15:59453324 MYO1E G>T	15	59453324	59453324	G	T	MYO1E	c.2733C>A	NM_004998.3	NP_004989.2:p.(Pro911=)	NC_000015.9:g.59453324G>T	(Likely) benign	1 lab	c24808b71f
2:238283203 COL6A3 G>C	2	238283203	238283203	G	C	COL6A3	c.3531C>G	NM_004369.3	NP_004360.2:p.(Thr1177=)	NC_000002.11:g.238283203G>C	(Likely) benign	1 lab	c249004388
1:57406577 C8B A>G	1	57406577	57406577	A	G	C8B	c.1187T>C	NM_001278543.1	NP_001265472.1:p.(Leu396Pro)	NC_000001.10:g.57406577A>G	VUS	1 lab	c2496bb7b6
2:21239412 APOB G>A	2	21239412	21239412	G	A	APOB	c.3231C>T	NM_000384.2	NP_000375.2:p.(Leu1077=)	NC_000002.11:g.21239412G>A	(Likely) benign	1 lab	c24a358dd3
21:44836925 SIK1 C>T	21	44836925	44836925	C	T	SIK1	c.2049G>A	NM_173354.4	NP_775490.2:p.(Pro683=)	NC_000021.8:g.44836925C>T	(Likely) benign	1 lab	c24cfea207
18:47810410 CXXC1 C>T	18	47810410	47810410	C	T	CXXC1	c.1279G>A	NM_001101654.1	NP_001095124.1:p.(Glu427Lys)	NC_000018.9:g.47810410C>T	VUS	1 lab	c24d46e994
9:123156914 CDK5RAP2 A>C	9	123156914	123156914	A	C	CDK5RAP2	c.5454T>G	NM_018249.5	NP_060719.4:p.(Ile1818Met)	NC_000009.11:g.123156914A>C	(Likely) benign	1 lab	c24e8a1e10
5:150726870 SLC36A2 GTCT>G	5	150726870	150726878	GTCT	G	SLC36A2	c.149_151del	NM_181776.3	NP_861441.2:p.(Lys50del)	NC_000005.9:g.150726876_150726878del	VUS	1 lab	c24ec02149
2:179545801 TTN T>G	2	179545801	179545801	T	G	TTN	c.33340+5A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179545801T>G	(Likely) benign	1 lab	c24f591f20
1:17312663 ATP13A2 T>G	1	17312663	17312663	T	G	ATP13A2	c.3294A>C	NM_001141974.2	NP_001135446.1:p.(Gln1098His)	NC_000001.10:g.17312663T>G	(Likely) benign	1 lab	c24f633d8c
X:70614016 TAF1 G>A	X	70614016	70614016	G	A	TAF1	c.3387G>A	NM_001286074.1	NP_001273003.1:p.(Leu1129=)	NC_000023.10:g.70614016G>A	(Likely) benign	1 lab	c2512a1f01
X:100808157 ARMCX1 T>C	X	100808157	100808157	T	C	ARMCX1	c.244T>C	NM_016608.1	NP_057692.1:p.(Leu82=)	NC_000023.10:g.100808157T>C	(Likely) benign	1 lab	c25190f71c
19:1388575 NDUFS7 C>A	19	1388575	1388575	C	A	NDUFS7	c.105C>A	NM_001363602.1	NP_001350531.1:p.(Ala35=)	NC_000019.9:g.1388575C>A	(Likely) benign	1 lab	c2535e0315
1:236881278 ACTN2 T>C	1	236881278	236881278	T	C	ACTN2	c.241+6T>C	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236881278T>C	VUS	1 lab	c25571b6af
21:45945537 TSPEAR T>C	21	45945537	45945537	T	C	TSPEAR	c.1131A>G	NM_001272037.1	NP_001258966.1:p.(Glu377=)	NC_000021.8:g.45945537T>C	(Likely) benign	1 lab	c2579da305
1:228553209 OBSCN A>G	1	228553209	228553209	A	G	OBSCN	c.21882A>G	NM_001271223.2	NP_001258152.2:p.(Arg7294=)	NC_000001.10:g.228553209A>G	(Likely) benign	1 lab	c2582fccc5
9:1051567 DMRT2 C>T	9	1051567	1051567	C	T	DMRT2	c.-44-3C>T	NM_006557.6	NP_006548.1:p.?	NC_000009.11:g.1051567C>T	(Likely) benign	1 lab	c258a1f082
19:45926555 ERCC1 G>A	19	45926555	45926555	G	A	ERCC1	c.78C>T	NM_001983.3	NP_001974.1:p.(Leu26=)	NC_000019.9:g.45926555G>A	(Likely) benign	1 lab	c259fd25b3
1:10535067 PEX14 G>A	1	10535067	10535067	G	A	PEX14	c.36+8G>A	NM_004565.2	NP_004556.1:p.?	NC_000001.10:g.10535067G>A	(Likely) benign	1 lab	c25b4fdc07
X:100871603 ARMCX6 C>T	X	100871603	100871603	C	T	ARMCX6	c.8G>A	NM_001184768.1	NP_001171697.1:p.(Arg3Gln)	NC_000023.10:g.100871603C>T	VUS	1 lab	c25be04778
2:97465293 CNNM4 A>C	2	97465293	97465293	A	C	CNNM4	c.1856A>C	NM_020184.3	NP_064569.3:p.(Lys619Thr)	NC_000002.11:g.97465293A>C	VUS	1 lab	c260174b9a
13:32914716 BRCA2 AAGTT>A	13	32914716	32914721	AAGTT	A	BRCA2	c.6226_6229del	NM_000059.4	NP_000050.3:p.(Val2076ArgfsTer4)	NC_000013.10:g.32914718_32914721del	(Likely) pathogenic	1 lab	c260597e86
X:10062255 WWC3 G>C	X	10062255	10062255	G	C	WWC3	c.591G>C	NM_015691.3	NP_056506.2:p.(Val197=)	NC_000023.10:g.10062255G>C	(Likely) benign	1 lab	c2605b22ce
3:142218557 ATR G>A	3	142218557	142218557	G	A	ATR	c.5292C>T	NM_001184.3	NP_001175.2:p.(Ser1764=)	NC_000003.11:g.142218557G>A	(Likely) benign	1 lab	c2609687f6
9:139316437 PMPCA C>T	9	139316437	139316437	C	T	PMPCA	c.1408+9C>T	NM_015160.2	NP_055975.1:p.?	NC_000009.11:g.139316437C>T	(Likely) benign	1 lab	c2615f0e0d
20:62322252 RTEL1 C>T	20	62322252	62322252	C	T	RTEL1	c.2508C>T	NM_001283009.1	NP_001269938.1:p.(Ala836=)	NC_000020.10:g.62322252C>T	(Likely) benign	1 lab	c262babe65
15:40453431 BUB1B G>A	15	40453431	40453431	G	A	BUB1B	c.10G>A	NM_001211.5	NP_001202.4:p.(Val4Met)	NC_000015.9:g.40453431G>A	(Likely) benign	1 lab	c263d5a699
15:74426252 ISLR2 G>A	15	74426252	74426252	G	A	ISLR2	c.1157G>A	NM_001130136.1	NP_001123608.1:p.(Gly386Glu)	NC_000015.9:g.74426252G>A	(Likely) benign	1 lab	c2648b411f
16:3778811 CREBBP G>C	16	3778811	3778811	G	C	CREBBP	c.6237C>G	NM_004380.2	NP_004371.2:p.(Ser2079=)	NC_000016.9:g.3778811G>C	(Likely) benign	1 lab	c270c64bfd
14:58953742 KIAA0586 A>T	14	58953742	58953742	A	T	KIAA0586	c.3162A>T	NM_001329943.2	NP_001316872.1:p.(Pro1054=)	NC_000014.8:g.58953742A>T	(Likely) benign	1 lab	c266e434d9
2:152448592 NEB G>A	2	152448592	152448592	G	A	NEB	c.14782C>T	NM_001271208.1	NP_001258137.1:p.(Pro4928Ser)	NC_000002.11:g.152448592G>A	VUS	1 lab	c266f20bcd
22:37334458 CSF2RB G>A	22	37334458	37334458	G	A	CSF2RB	c.2608G>A	NM_000395.2	NP_000386.1:p.(Val870Ile)	NC_000022.10:g.37334458G>A	(Likely) benign	1 lab	c26803b728
12:103238136 PAH AG>A	12	103238136	103238138	AG	A	PAH	c.1042del	NM_000277.3	NP_000268.1:p.(Leu348CysfsTer52)	NC_000012.11:g.103238138del	(Likely) pathogenic	1 lab	c2689332e8
2:179572475 TTN C>T	2	179572475	179572475	C	T	TTN	c.28819G>A	NM_001267550.1	NP_001254479.1:p.(Val9607Met)	NC_000002.11:g.179572475C>T	VUS	1 lab	c26a91ae01
14:105609208 JAG2 C>T	14	105609208	105609208	C	T	JAG2	c.3541G>A	NM_002226.5	NP_002217.3:p.(Glu1181Lys)	NC_000014.8:g.105609208C>T	VUS	1 lab	c26c943312
X:100808009 ARMCX1 C>A	X	100808009	100808009	C	A	ARMCX1	c.96C>A	NM_016608.1	NP_057692.1:p.(Asp32Glu)	NC_000023.10:g.100808009C>A	(Likely) benign	1 lab	c26dc7846f
4:186544972 SORBS2 G>A	4	186544972	186544972	G	A	SORBS2	c.1899C>T	NM_001270771.1	NP_001257700.1:p.(Pro633=)	NC_000004.11:g.186544972G>A	(Likely) benign	1 lab	c26f1a3bfc
1:40766959 COL9A2 T>C	1	40766959	40766959	T	C	COL9A2	c.1965A>G	NM_001852.4	NP_001843.1:p.(Pro655=)	NC_000001.10:g.40766959T>C	(Likely) benign	1 lab	c270c69981
21:46906897 COL18A1 C>T	21	46906897	46906897	C	T	COL18A1	c.2364C>T	NM_030582.4	NP_085059.2:p.(Pro788=)	NC_000021.8:g.46906897C>T	(Likely) benign	1 lab	c2711907fc
2:55910961 PNPT1 T>C	2	55910961	55910961	T	C	PNPT1	c.412A>G	NM_033109.4	NP_149100.2:p.(Ile138Val)	NC_000002.11:g.55910961T>C	(Likely) benign	1 lab	c2727b37c3
2:122288480 RNU4ATAC C>T	2	122288480	122288480	C	T	RNU4ATAC	n.25C>T	NR_023343.1		NC_000002.11:g.122288480C>T	VUS	1 lab	c2728e61fb
6:27114317 H2BC12 G>A	6	27114317	27114317	G	A	H2BC12	c.261C>T	NM_080593.2	NP_542160.1:p.(Arg87=)	NC_000006.11:g.27114317G>A	(Likely) benign	1 lab	c27385a9e3
1:207532918 CD55 T>G	1	207532918	207532918	T	G	CD55	c.1227T>G	NM_001114752.2	NP_001108224.1:p.(Phe409Leu)	NC_000001.10:g.207532918T>G	(Likely) benign	1 lab	c27417e91e
19:36572484 WDR62 C>T	19	36572484	36572484	C	T	WDR62	c.1371+12C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36572484C>T	(Likely) benign	1 lab	c274333eb7
11:17517154 USH1C C>T	11	17517154	17517154	C	T	USH1C	c.2617G>A	NM_153676.3	NP_710142.1:p.(Val873Met)	NC_000011.9:g.17517154C>T	(Likely) benign	1 lab	c27532133f
X:129055464 UTP14A G>A	X	129055464	129055464	G	A	UTP14A	c.1249G>A	NM_006649.4	NP_006640.2:p.(Glu417Lys)	NC_000023.10:g.129055464G>A	(Likely) benign	1 lab	c279d533c4
6:90660494 BACH2 G>A	6	90660494	90660494	G	A	BACH2	c.1331C>T	NM_021813.4	NP_068585.1:p.(Ser444Leu)	NC_000006.11:g.90660494G>A	(Likely) benign	1 lab	c27c876e5c
19:39993661 DLL3 C>T	19	39993661	39993661	C	T	DLL3	c.616C>T	NM_016941.3	NP_058637.1:p.(Pro206Ser)	NC_000019.9:g.39993661C>T	VUS	1 lab	c27c89009e
20:25282852 ABHD12 C>T	20	25282852	25282852	C	T	ABHD12	c.1157+3G>A	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25282852C>T	(Likely) benign	1 lab	c27de91494
7:143036387 CLCN1 C>A	7	143036387	143036387	C	A	CLCN1	c.1443C>A	NM_000083.2	NP_000074.2:p.(Cys481Ter)	NC_000007.13:g.143036387C>A	(Likely) pathogenic	1 lab	c2802f9752
9:90535182 SPATA31C1 C>G	9	90535182	90535182	C	G	SPATA31C1	c.360C>G	NM_001145124.1	NP_001138596.1:p.(His120Gln)	NC_000009.11:g.90535182C>G	VUS	1 lab	c2815afd78
17:4351597 SPNS3 AAGTG>A	17	4351597	4351604	AAGTG	A	SPNS3	c.770+3_770+6del	NM_182538.5	NP_872344.3:p.?	NC_000017.10:g.4351601_4351604del	VUS	1 lab	c281fdb288
20:60937503 LAMA5 G>A	20	60937503	60937503	G	A	LAMA5	c.403C>T	NM_005560.4	NP_005551.3:p.(Arg135Cys)	NC_000020.10:g.60937503G>A	VUS	1 lab	c28278e619
7:35289823 TBX20 TAA>T	7	35289823	35289826	TAA	T	TBX20	c.128-10_128-9del	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35289825_35289826del	(Likely) benign	1 lab	c2829bab28
7:73466265 ELN CCAGCTGCAGCTG>C	7	73466265	73466287	CCAGCTGCAGCTG	C	ELN	c.912_923del	NM_000501.4	NP_000492.2:p.(Ala308_Ala311del)	NC_000007.13:g.73466276_73466287del	VUS	1 lab	c283f62e25
4:39247014 WDR19 C>T	4	39247014	39247014	C	T	WDR19	c.2671C>T	NM_025132.3	NP_079408.3:p.(His891Tyr)	NC_000004.11:g.39247014C>T	VUS	1 lab	c2846b31ae
1:228451827 OBSCN G>A	1	228451827	228451827	G	A	OBSCN	c.5148G>A	NM_001271223.2	NP_001258152.2:p.(Ala1716=)	NC_000001.10:g.228451827G>A	(Likely) benign	1 lab	c285fc0411
6:88240638 RARS2 T>G	6	88240638	88240638	T	G	RARS2	c.110A>C	NM_001350508.1	NP_001337437.1:p.(Glu37Ala)	NC_000006.11:g.88240638T>G	(Likely) benign	1 lab	c2873ae246
17:8788068 PIK3R5 C>T	17	8788068	8788068	C	T	PIK3R5	c.1003G>A	NM_001251851.1	NP_001238780.1:p.(Asp335Asn)	NC_000017.10:g.8788068C>T	VUS	1 lab	c2879b2585
17:2573531 PAFAH1B1 C>T	17	2573531	2573531	C	T	PAFAH1B1	c.474C>T	NM_000430.3	NP_000421.1:p.(Phe158=)	NC_000017.10:g.2573531C>T	(Likely) benign	1 lab	c289eac6ef
8:38003586 STAR C>T	8	38003586	38003586	C	T	STAR	c.545G>A	NM_000349.2	NP_000340.2:p.(Arg182His)	NC_000008.10:g.38003586C>T	VUS	1 lab	c28c30630a
20:43850494 SEMG2 A>G	20	43850494	43850494	A	G	SEMG2	c.221A>G	NM_003008.2	NP_002999.1:p.(Asn74Ser)	NC_000020.10:g.43850494A>G	(Likely) benign	1 lab	c28d238bc3
15:48808507 FBN1 T>C	15	48808507	48808507	T	C	FBN1	c.1200A>G	NM_000138.4	NP_000129.3:p.(Glu400=)	NC_000015.9:g.48808507T>C	(Likely) benign	1 lab	c28d2a7562
12:58179985 TSFM T>G	12	58179985	58179985	T	G	TSFM	c.271T>G	NM_001172696.1	NP_001166167.1:p.(Trp91Gly)	NC_000012.11:g.58179985T>G	VUS	1 lab	c28de4193f
9:135782741 TSC1 GA>G	9	135782741	135782743	GA	G	TSC1	c.1279del	NM_000368.5	NP_000359.1:p.(Ser427LeufsTer13)	NC_000009.11:g.135782743del	(Likely) pathogenic	1 lab	c28f3e2e22
2:20205965 MATN3 G>A	2	20205965	20205965	G	A	MATN3	c.330C>T	NM_002381.4	NP_002372.1:p.(Ile110=)	NC_000002.11:g.20205965G>A	(Likely) benign	1 lab	c28f546cd0
11:2905354 CDKN1C G>A	11	2905354	2905354	G	A	CDKN1C	c.831C>T	NM_000076.2	NP_000067.1:p.(Ala277=)	NC_000011.9:g.2905354G>A	(Likely) benign	1 lab	c294088339
19:48638944 LIG1 T>A	19	48638944	48638944	T	A	LIG1	c.1513A>T	NM_001320970.1	NP_001307899.1:p.(Thr505Ser)	NC_000019.9:g.48638944T>A	(Likely) benign	1 lab	c2952a3e93
9:135781026 TSC1 C>A	9	135781026	135781026	C	A	TSC1	c.1939G>T	NM_000368.4	NP_000359.1:p.(Glu647Ter)	NC_000009.11:g.135781026C>A	(Likely) pathogenic	1 lab	c295e5f783
15:48433392 SLC24A5 T>C	15	48433392	48433392	T	C	SLC24A5	c.1161T>C	NM_205850.2	NP_995322.1:p.(Ser387=)	NC_000015.9:g.48433392T>C	(Likely) benign	1 lab	c2963d2df5
4:68424595 STAP1 C>T	4	68424595	68424595	C	T	STAP1	c.68C>T	NM_012108.3	NP_036240.1:p.(Ala23Val)	NC_000004.11:g.68424595C>T	VUS	1 lab	c29641d4a7
8:120801849 TAF2 C>T	8	120801849	120801849	C	T	TAF2	c.1551G>A	NM_003184.3	NP_003175.1:p.(Pro517=)	NC_000008.10:g.120801849C>T	(Likely) benign	1 lab	c29876a74b
2:219525911 BCS1L C>T	2	219525911	219525911	C	T	BCS1L	c.201C>T	NM_004328.4	NP_004319.1:p.(Leu67=)	NC_000002.11:g.219525911C>T	(Likely) benign	1 lab	c298a2629f
16:2125788 TSC2 C>T	16	2125788	2125788	C	T	TSC2	c.2546-12C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125788C>T	(Likely) benign	1 lab	c2997b4a62
18:77513779 CTDP1 G>A	18	77513779	77513779	G	A	CTDP1	c.2875G>A	NM_004715.4	NP_004706.3:p.(Asp959Asn)	NC_000018.9:g.77513779G>A	VUS	1 lab	c299e3b3d6
16:10996005 CIITA G>A	16	10996005	10996005	G	A	CIITA	c.595G>A	NM_001286402.1	NP_001273331.1:p.(Gly199Ser)	NC_000016.9:g.10996005G>A	(Likely) benign	1 lab	c29c07f77a
4:654285 PDE6B T>G	4	654285	654285	T	G	PDE6B	c.1497T>G	NM_000283.3	NP_000274.2:p.(Phe499Leu)	NC_000004.11:g.654285T>G	VUS	1 lab	c29c4e7d7c
18:44109166 LOXHD1 G>A	18	44109166	44109166	G	A	LOXHD1	c.4504C>T	NM_144612.6	NP_653213.6:p.(Arg1502Trp)	NC_000018.9:g.44109166G>A	VUS	1 lab	c29fe47c1e
6:32172073 NOTCH4 G>A	6	32172073	32172073	G	A	NOTCH4	c.2959C>T	NM_004557.3	NP_004548.3:p.(Pro987Ser)	NC_000006.11:g.32172073G>A	VUS	1 lab	c2a314a1f6
11:47370116 MYBPC3 G>A	11	47370116	47370116	G	A	MYBPC3	c.655-24C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370116G>A	(Likely) benign	1 lab	c2a687baaf
12:96371793 HAL G>A	12	96371793	96371793	G	A	HAL	c.1583C>T	NM_002108.3	NP_002099.1:p.(Thr528Met)	NC_000012.11:g.96371793G>A	VUS	1 lab	c2a6ccbb81
2:169985206 LRP2 G>A	2	169985206	169985206	G	A	LRP2	c.13935C>T	NM_004525.3	NP_004516.2:p.(Thr4645=)	NC_000002.11:g.169985206G>A	(Likely) benign	1 lab	c2a800a1a6
1:45809156 TOE1 C>T	1	45809156	45809156	C	T	TOE1	c.1315C>T	NM_025077.4	NP_079353.3:p.(Arg439Trp)	NC_000001.10:g.45809156C>T	VUS	1 lab	c2a87736e9
19:50771619 MYH14 A>G	19	50771619	50771619	A	G	MYH14	c.3028A>G	NM_001145809.1	NP_001139281.1:p.(Ile1010Val)	NC_000019.9:g.50771619A>G	VUS	1 lab	c2a93d5c5f
3:157289808 SLC66A1LP G>GA	3	157289808	157289809	G	GA	SLC66A1LP	c.278_279insA	NM_001130002.2	NP_001123474.1:p.(Leu94ValfsTer71)	NC_000003.11:g.157289808_157289809insA	VUS	1 lab	c2ae7bb36a
15:38641728 SPRED1 A>C	15	38641728	38641728	A	C	SPRED1	c.684+4A>C	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38641728A>C	(Likely) benign	1 lab	c2aeaa84e5
X:63579291 MTMR8 T>C	X	63579291	63579291	T	C	MTMR8	c.141A>G	NM_017677.3	NP_060147.2:p.(Glu47=)	NC_000023.10:g.63579291T>C	(Likely) benign	1 lab	c2af079e93
3:37089047 MLH1 TAGATA>GGCTG	3	37089047	37089052	TAGATA	GGCTG	MLH1	c.1769_1774delinsGGCTG	NM_000249.3	NP_000240.1:p.(Leu590TrpfsTer26)	NC_000003.11:g.37089047_37089052delinsGGCTG	(Likely) pathogenic	1 lab	c2af681026
11:65637729 EFEMP2 AGGAGGGC>A	11	65637729	65637743	AGGAGGGC	A	EFEMP2	c.491-28_491-22del	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65637737_65637743del	(Likely) benign	1 lab	c2b0180432
2:209218808 PIKFYVE A>G	2	209218808	209218808	A	G	PIKFYVE	c.6031A>G	NM_015040.3	NP_055855.2:p.(Ser2011Gly)	NC_000002.11:g.209218808A>G	VUS	1 lab	c2b0374b5a
20:61468579 COL9A3 G>A	20	61468579	61468579	G	A	COL9A3	c.1748G>A	NM_001853.4	NP_001844.3:p.(Arg583His)	NC_000020.10:g.61468579G>A	VUS	1 lab	c2b3546570
X:140994326 MAGEC1 C>G	X	140994326	140994326	C	G	MAGEC1	c.1136C>G	NM_005462.4	NP_005453.2:p.(Pro379Arg)	NC_000023.10:g.140994326C>G	(Likely) benign	1 lab	c2b43ded19
5:176675268 NSD1 T>TA	5	176675268	176675275	T	TA	NSD1	c.4591dup	NM_022455.4	NP_071900.2:p.(Met1531AsnfsTer4)	NC_000005.9:g.176675275dup	(Likely) pathogenic	1 lab	c2b8845339
2:27258907 TMEM214 C>T	2	27258907	27258907	C	T	TMEM214	c.707C>T	NM_017727.5	NP_060197.4:p.(Ala236Val)	NC_000002.11:g.27258907C>T	(Likely) benign	1 lab	c2b965a17a
1:27671849 SYTL1 G>A	1	27671849	27671849	G	A	SYTL1	c.24G>A	NM_001193308.2	NP_001180237.1:p.(Ser8=)	NC_000001.10:g.27671849G>A	(Likely) benign	1 lab	c2bc4df6da
11:134128472 ACAD8 G>T	11	134128472	134128472	G	T	ACAD8	c.444G>T	NM_014384.2	NP_055199.1:p.(Pro148=)	NC_000011.9:g.134128472G>T	(Likely) benign	1 lab	c2bd370096
17:29665125 NF1 C>T	17	29665125	29665125	C	T	NF1	c.6724C>T	NM_000267.3	NP_000258.1:p.(Gln2242Ter)	NC_000017.10:g.29665125C>T	(Likely) pathogenic	1 lab	c2bd8e03cc
22:38122335 TRIOBP C>A	22	38122335	38122335	C	A	TRIOBP	c.3772C>A	NM_001039141.2	NP_001034230.1:p.(Pro1258Thr)	NC_000022.10:g.38122335C>A	VUS	1 lab	c2bdff96d5
2:179623852 TTN G>A	2	179623852	179623852	G	A	TTN	c.10162C>T	NM_001267550.1	NP_001254479.1:p.(Arg3388Trp)	NC_000002.11:g.179623852G>A	(Likely) benign	1 lab	c2c735986e
2:11774414 GREB1 G>A	2	11774414	11774414	G	A	GREB1	c.5149G>A	NM_014668.3	NP_055483.2:p.(Val1717Met)	NC_000002.11:g.11774414G>A	VUS	1 lab	c2c767e130
6:2948717 SERPINB6 C>T	6	2948717	2948717	C	T	SERPINB6	c.946G>A	NM_001297699.1	NP_001284628.1:p.(Val316Met)	NC_000006.11:g.2948717C>T	VUS	1 lab	c2c791b47f
11:74172998 KCNE3 A>AAT	11	74172998	74172999	A	AAT	KCNE3	c.-41+1_-41+2insAT	NM_005472.4	NP_005463.1:p.?	NC_000011.9:g.74172998_74172999insAT	(Likely) pathogenic	1 lab	c2c94a4d8c
1:32126668 COL16A1 T>G	1	32126668	32126668	T	G	COL16A1	c.3824A>C	NM_001856.4	NP_001847.3:p.(Glu1275Ala)	NC_000001.10:g.32126668T>G	VUS	1 lab	c2ca5c6865
14:64488036 SYNE2 A>G	14	64488036	64488036	A	G	SYNE2	c.5155A>G	NM_182914.2	NP_878918.2:p.(Met1719Val)	NC_000014.8:g.64488036A>G	(Likely) benign	1 lab	c2cc8ea8f5
X:25031125 ARX CCT>C	X	25031125	25031129	CCT	C	ARX	c.985_986del	NM_139058.3	NP_620689.1:p.(Arg329AlafsTer202)	NC_000023.10:g.25031128_25031129del	(Likely) pathogenic	1 lab	c2cd1c10d1
X:152991195 ABCD1 G>A	X	152991195	152991195	G	A	ABCD1	c.474G>A	NM_000033.3	NP_000024.2:p.(Leu158=)	NC_000023.10:g.152991195G>A	(Likely) benign	1 lab	c2cd916281
20:62121972 EEF1A2 C>T	20	62121972	62121972	C	T	EEF1A2	c.889G>A	NM_001958.3	NP_001949.1:p.(Glu297Lys)	NC_000020.10:g.62121972C>T	VUS	1 lab	c2d0c75530
11:10521750 AMPD3 C>T	11	10521750	10521750	C	T	AMPD3	c.1696C>T	NM_001025390.1	NP_001020561.1:p.(Leu566=)	NC_000011.9:g.10521750C>T	(Likely) benign	1 lab	c2d170251c
17:29557904 NF1 C>G	17	29557904	29557904	C	G	NF1	c.3158C>G	NM_000267.3	NP_000258.1:p.(Ser1053Ter)	NC_000017.10:g.29557904C>G	(Likely) pathogenic	1 lab	c2d3585302
8:30948045 WRN A>G	8	30948045	30948045	A	G	WRN	c.1717A>G	NM_000553.4	NP_000544.2:p.(Thr573Ala)	NC_000008.10:g.30948045A>G	VUS	1 lab	c2d3e468c0
1:236384232 ERO1B A>G	1	236384232	236384232	A	G	ERO1B	c.1243T>C	NM_019891.3	NP_063944.3:p.(Phe415Leu)	NC_000001.10:g.236384232A>G	VUS	1 lab	c2d49136a1
12:88453762 CEP290 A>C	12	88453762	88453762	A	C	CEP290	c.6558T>G	NM_025114.3	NP_079390.3:p.(His2186Gln)	NC_000012.11:g.88453762A>C	(Likely) benign	1 lab	c2d56c79fa
X:27998584 DCAF8L1 G>A	X	27998584	27998584	G	A	DCAF8L1	c.868C>T	NM_001017930.1	NP_001017930.1:p.(His290Tyr)	NC_000023.10:g.27998584G>A	VUS	1 lab	c2d675594d
16:3929882 CREBBP G>C	16	3929882	3929882	G	C	CREBBP	c.36C>G	NM_004380.2	NP_004371.2:p.(Pro12=)	NC_000016.9:g.3929882G>C	(Likely) benign	1 lab	c2d6d89214
5:70798553 BDP1 A>T	5	70798553	70798553	A	T	BDP1	c.2176A>T	NM_018429.2	NP_060899.2:p.(Ile726Leu)	NC_000005.9:g.70798553A>T	(Likely) benign	1 lab	c2d7c187df
11:76917153 MYO7A G>A	11	76917153	76917153	G	A	MYO7A	c.5648G>A	NM_000260.3	NP_000251.3:p.(Arg1883Gln)	NC_000011.9:g.76917153G>A	(Likely) pathogenic	1 lab	c2d952ad96
5:141257811 PCDH1 C>T	5	141257811	141257811	C	T	PCDH1	c.17G>A	NM_032420.3	NP_115796.2:p.(Gly6Asp)	NC_000005.9:g.141257811C>T	(Likely) benign	1 lab	c2d98e615f
16:16251667 ABCC6 C>T	16	16251667	16251667	C	T	ABCC6	c.3736-1G>A	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16251667C>T	(Likely) pathogenic	1 lab	c2d9ba3c46
6:10784718 MAK G>A	6	10784718	10784718	G	A	MAK	c.1404C>T	NM_001242957.2	NP_001229886.1:p.(Ser468=)	NC_000006.11:g.10784718G>A	(Likely) benign	1 lab	c2d9baa954
5:94834158 SKIC3 T>C	5	94834158	94834158	T	C	SKIC3	c.3479A>G	NM_014639.3	NP_055454.1:p.(Gln1160Arg)	NC_000005.9:g.94834158T>C	(Likely) benign	1 lab	c2dcce6b4d
12:8244432 NECAP1 GC>G	12	8244432	8244433	GC	G	NECAP1	c.370del	NM_015509.4	NP_056324.2:p.(Gln124ArgfsTer7)	NC_000012.11:g.8244433del	VUS	1 lab	c2dd96d81d
X:49032606 PRICKLE3 G>A	X	49032606	49032606	G	A	PRICKLE3	c.1264C>T	NM_006150.4	NP_006141.2:p.(Pro422Ser)	NC_000023.10:g.49032606G>A	(Likely) benign	1 lab	c2de2fd797
13:23929478 SACS G>T	13	23929478	23929478	G	T	SACS	c.1273C>A	NM_014363.5	NP_055178.3:p.(Pro425Thr)	NC_000013.10:g.23929478G>T	(Likely) benign	1 lab	c2de382b26
X:46915571 JADE3 G>A	X	46915571	46915571	G	A	JADE3	c.1531G>A	NM_014735.5	NP_055550.1:p.(Val511Ile)	NC_000023.10:g.46915571G>A	VUS	1 lab	c2de6d8195
13:111102725 COL4A2 C>T	13	111102725	111102725	C	T	COL4A2	c.1263C>T	NM_001846.3	NP_001837.2:p.(Tyr421=)	NC_000013.10:g.111102725C>T	(Likely) benign	1 lab	c2e095ec75
12:14019110 GRIN2B C>T	12	14019110	14019110	C	T	GRIN2B	c.33G>A	NM_000834.4	NP_000825.2:p.(Lys11=)	NC_000012.11:g.14019110C>T	(Likely) benign	1 lab	c2e109bcf6
14:102477073 DYNC1H1 G>C	14	102477073	102477073	G	C	DYNC1H1	c.6406-4G>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102477073G>C	(Likely) benign	1 lab	c2e13878dd
15:45404147 DUOX2 T>A	15	45404147	45404147	T	A	DUOX2	c.332A>T	NM_014080.4	NP_054799.4:p.(His111Leu)	NC_000015.9:g.45404147T>A	(Likely) benign	1 lab	c2e2522ce8
X:153775027 G6PD C>A	X	153775027	153775027	C	A	G6PD	c.59G>T	NM_000402.4	NP_000393.4:p.(Gly20Val)	NC_000023.10:g.153775027C>A	(Likely) benign	1 lab	c2e4ac2621
1:65830474 DNAJC6 C>T	1	65830474	65830474	C	T	DNAJC6	c.344+6C>T	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830474C>T	(Likely) benign	1 lab	c2e575abbf
7:150749259 ASIC3 C>T	7	150749259	150749259	C	T	ASIC3	c.1393C>T	NM_020321.3	NP_064717.1:p.(Arg465Ter)	NC_000007.13:g.150749259C>T	VUS	1 lab	c2e589949c
X:32591746 DMD A>T	X	32591746	32591746	A	T	DMD	c.1344T>A	NM_004010.3	NP_004001.1:p.(Phe448Leu)	NC_000023.10:g.32591746A>T	(Likely) benign	1 lab	c2e664f5a5
X:37985949 SYTL5 T>C	X	37985949	37985949	T	C	SYTL5	c.2159T>C	NM_001163335.1	NP_001156807.1:p.(Met720Thr)	NC_000023.10:g.37985949T>C	VUS	1 lab	c2e67bd991
X:150793966 PASD1 A>G	X	150793966	150793966	A	G	PASD1	c.593A>G	NM_173493.2	NP_775764.2:p.(Gln198Arg)	NC_000023.10:g.150793966A>G	(Likely) benign	1 lab	c2e70f7774
6:143792114 PEX3 T>C	6	143792114	143792114	T	C	PEX3	c.348T>C	NM_003630.2	NP_003621.1:p.(Thr116=)	NC_000006.11:g.143792114T>C	(Likely) benign	1 lab	c2e8cd8612
16:88503877 ZNF469 G>A	16	88503877	88503877	G	A	ZNF469				NC_000016.9:g.88503877G>A	(Likely) benign	1 lab	c2ea541129
19:36223378 KMT2B C>T	19	36223378	36223378	C	T	KMT2B	c.5928C>T	NM_014727.2	NP_055542.1:p.(Asp1976=)	NC_000019.9:g.36223378C>T	(Likely) benign	1 lab	c2ec9ec2dc
9:13122114 MPDZ C>T	9	13122114	13122114	C	T	MPDZ	c.5009G>A	NM_003829.4	NP_003820.2:p.(Arg1670Lys)	NC_000009.11:g.13122114C>T	VUS	1 lab	c2f22a40b0
3:42741257 HHATL C>G	3	42741257	42741257	C	G	HHATL	c.167G>C	NM_020707.3	NP_065758.3:p.(Arg56Pro)	NC_000003.11:g.42741257C>G	VUS	1 lab	c2f276cbd1
8:106813991 ZFPM2 G>T	8	106813991	106813991	G	T	ZFPM2	c.1681G>T	NM_012082.3	NP_036214.2:p.(Asp561Tyr)	NC_000008.10:g.106813991G>T	VUS	1 lab	c2f53df2d2
14:80130235 NRXN3 G>A	14	80130235	80130235	G	A	NRXN3	c.2440G>A	NM_004796.5	NP_004787.2:p.(Gly814Ser)	NC_000014.8:g.80130235G>A	VUS	1 lab	c2f5b0ed3b
9:135139678 SETX T>C	9	135139678	135139678	T	C	SETX	c.7982A>G	NM_015046.5	NP_055861.3:p.(Lys2661Arg)	NC_000009.11:g.135139678T>C	(Likely) benign	1 lab	c2f74c7e71
17:29548419 NF1 A>G	17	29548419	29548419	A	G	NF1	c.1642-449A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548419A>G	(Likely) pathogenic	1 lab	c2f77b301d
2:242402823 FARP2 A>G	2	242402823	242402823	A	G	FARP2	c.1751A>G	NM_014808.4	NP_055623.1:p.(Asp584Gly)	NC_000002.11:g.242402823A>G	VUS	1 lab	c2f7cc371a
X:103495137 ESX1 T>C	X	103495137	103495137	T	C	ESX1	c.993A>G	NM_153448.3	NP_703149.1:p.(Pro331=)	NC_000023.10:g.103495137T>C	(Likely) benign	1 lab	c2f809e68e
16:8868793 ABAT G>A	16	8868793	8868793	G	A	ABAT	c.1001G>A	NM_000663.4	NP_000654.2:p.(Cys334Tyr)	NC_000016.9:g.8868793G>A	VUS	1 lab	c2f874baed
17:41245711 BRCA1 T>TC	17	41245711	41245713	T	TC	BRCA1	c.1836dup	NM_007294.3	NP_009225.1:p.(Arg613GlufsTer12)	NC_000017.10:g.41245713dup	(Likely) pathogenic	1 lab	c2fa3a354d
10:85993852 LRIT1 T>C	10	85993852	85993852	T	C	LRIT1	c.872A>G	NM_015613.2	NP_056428.1:p.(Asn291Ser)	NC_000010.10:g.85993852T>C	VUS	1 lab	c2fa3af493
X:100297035 TRMT2B C>T	X	100297035	100297035	C	T	TRMT2B	c.244G>A	NM_024917.5	NP_079193.2:p.(Glu82Lys)	NC_000023.10:g.100297035C>T	(Likely) benign	1 lab	c2fc51a083
3:136240045 STAG1 A>G	3	136240045	136240045	A	G	STAG1	c.676+10T>C	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136240045A>G	(Likely) benign	1 lab	c2fe4728b3
X:46713538 RP2 G>A	X	46713538	46713538	G	A	RP2	c.730G>A	NM_006915.2	NP_008846.2:p.(Asp244Asn)	NC_000023.10:g.46713538G>A	VUS	1 lab	c2fed38ef2
19:54307305 NLRP12 A>G	19	54307305	54307305	A	G	NLRP12	c.2489T>C	NM_001277126.1	NP_001264055.1:p.(Leu830Pro)	NC_000019.9:g.54307305A>G	VUS	1 lab	c2ff726e63
19:1008919 GRIN3B G>A	19	1008919	1008919	G	A	GRIN3B	c.2695G>A	NM_138690.2	NP_619635.1:p.(Glu899Lys)	NC_000019.9:g.1008919G>A	(Likely) benign	1 lab	c3061a1e2f
12:81004307 MISSING G>A	12	81004307	81004307	G	A	MISSING				NC_000012.11:g.81004307G>A	(Likely) benign	1 lab	c30711b334
4:178363378 AGA G>A	4	178363378	178363378	G	A	AGA	c.127+25C>T	NM_000027.3	NP_000018.2:p.?	NC_000004.11:g.178363378G>A	(Likely) benign	1 lab	c30729c815
X:55052313 ALAS2 G>C	X	55052313	55052313	G	C	ALAS2	c.193C>G	NM_001037968.3	NP_001033057.1:p.(Leu65Val)	NC_000023.10:g.55052313G>C	(Likely) benign	1 lab	c30757b214
1:29438908 EPB41 G>A	1	29438908	29438908	G	A	EPB41	c.1775G>A	NM_203342.2	NP_976217.1:p.(Arg592His)	NC_000001.10:g.29438908G>A	VUS	1 lab	c3090f10e4
2:233399910 CHRND T>C	2	233399910	233399910	T	C	CHRND	c.1442T>C	NM_000751.2	NP_000742.1:p.(Met481Thr)	NC_000002.11:g.233399910T>C	VUS	1 lab	c30a8c0296
10:73572269 CDH23 G>A	10	73572269	73572269	G	A	CDH23	c.9413G>A	NM_022124.5	NP_071407.4:p.(Arg3138Gln)	NC_000010.10:g.73572269G>A	VUS	1 lab	c30ba3d798
6:112455652 LAMA4 T>C	6	112455652	112455652	T	C	LAMA4	c.3557+17A>G	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112455652T>C	VUS	1 lab	c30c6a07b1
X:11133111 HCCS T>G	X	11133111	11133111	T	G	HCCS	c.252+5T>G	NM_005333.5	NP_005324.3:p.?	NC_000023.10:g.11133111T>G	(Likely) benign	1 lab	c30e7b9d64
2:179655529 TTN A>G	2	179655529	179655529	A	G	TTN	c.1706T>C	NM_001267550.1	NP_001254479.1:p.(Val569Ala)	NC_000002.11:g.179655529A>G	(Likely) benign	1 lab	c30eba8eb1
15:66996172 SMAD6 G>A	15	66996172	66996172	G	A	SMAD6	c.576G>A	NM_005585.4	NP_005576.3:p.(Leu192=)	NC_000015.9:g.66996172G>A	(Likely) benign	1 lab	c30fbb9554
1:152284265 FLG G>A	1	152284265	152284265	G	A	FLG	c.3097C>T	NM_002016.1	NP_002007.1:p.(His1033Tyr)	NC_000001.10:g.152284265G>A	(Likely) benign	1 lab	c30ff15ae8
X:53349653 IQSEC2 G>A	X	53349653	53349653	G	A	IQSEC2	c.669C>T	NM_001111125.2	NP_001104595.1:p.(Thr223=)	NC_000023.10:g.53349653G>A	(Likely) benign	1 lab	c310464f95
3:164714559 SI A>G	3	164714559	164714559	A	G	SI	c.4542T>C	NM_001041.3	NP_001032.2:p.(Gly1514=)	NC_000003.11:g.164714559A>G	(Likely) benign	1 lab	c31072f251
11:117268012 CEP164 C>T	11	117268012	117268012	C	T	CEP164	c.3484C>T	NM_014956.4	NP_055771.4:p.(Arg1162Cys)	NC_000011.9:g.117268012C>T	VUS	1 lab	c31079ec8e
X:84526284 ZNF711 G>A	X	84526284	84526284	G	A	ZNF711	c.1736G>A	NM_021998.4	NP_068838.3:p.(Arg579His)	NC_000023.10:g.84526284G>A	VUS	1 lab	c311a7c264
12:124241358 ATP6V0A2 G>A	12	124241358	124241358	G	A	ATP6V0A2	c.2294-4G>A	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124241358G>A	(Likely) benign	1 lab	c312293a22
X:34150200 FAM47A C>T	X	34150200	34150200	C	T	FAM47A	c.196G>A	NM_203408.3	NP_981953.2:p.(Glu66Lys)	NC_000023.10:g.34150200C>T	(Likely) benign	1 lab	c3122967db
X:22196383 PHEX T>C	X	22196383	22196383	T	C	PHEX	c.1483-7T>C	NM_000444.5	NP_000435.3:p.?	NC_000023.10:g.22196383T>C	(Likely) benign	1 lab	c31287e546
1:228363123 IBA57 T>C	1	228363123	228363123	T	C	IBA57	c.980T>C	NM_001010867.3	NP_001010867.1:p.(Ile327Thr)	NC_000001.10:g.228363123T>C	(Likely) benign	1 lab	c31500b2eb
15:35082655 ACTC1 G>A	15	35082655	35082655	G	A	ACTC1	c.1092C>T	NM_005159.4	NP_005150.1:p.(Tyr364=)	NC_000015.9:g.35082655G>A	(Likely) benign	1 lab	c3156d845f
19:36223501 KMT2B C>T	19	36223501	36223501	C	T	KMT2B	c.6051C>T	NM_014727.2	NP_055542.1:p.(His2017=)	NC_000019.9:g.36223501C>T	(Likely) benign	1 lab	c315d63689
12:80750206 OTOGL G>A	12	80750206	80750206	G	A	OTOGL	c.5790G>A	NM_173591.3	NP_775862.3:p.(Thr1930=)	NC_000012.11:g.80750206G>A	(Likely) benign	1 lab	c3179471ef
X:67518856 OPHN1 A>G	X	67518856	67518856	A	G	OPHN1	c.237T>C	NM_002547.2	NP_002538.1:p.(Asp79=)	NC_000023.10:g.67518856A>G	(Likely) benign	1 lab	c318c6e615
9:90501804 SPATA31E1 C>T	9	90501804	90501804	C	T	SPATA31E1	c.2402C>T	NM_178828.4	NP_849150.3:p.(Thr801Ile)	NC_000009.11:g.90501804C>T	(Likely) benign	1 lab	c319934b2a
X:154292258 CMC4 A>G	X	154292258	154292258	A	G	CMC4	c.41T>C	NM_001018024.3	NP_001018024.1:p.(Ile14Thr)	NC_000023.10:g.154292258A>G	VUS	1 lab	c319ee5e0e
21:47841899 PCNT T>C	21	47841899	47841899	T	C	PCNT	c.7040T>C	NM_006031.5	NP_006022.3:p.(Phe2347Ser)	NC_000021.8:g.47841899T>C	(Likely) benign	1 lab	c31a9ff247
11:34158524 NAT10 G>C	11	34158524	34158524	G	C	NAT10	c.2163-1G>C	NM_024662.2	NP_078938.2:p.?	NC_000011.9:g.34158524G>C	VUS	1 lab	c31c2d248a
15:28326963 OCA2 G>A	15	28326963	28326963	G	A	OCA2	c.58C>T	NM_000275.2	NP_000266.2:p.(Leu20=)	NC_000015.9:g.28326963G>A	(Likely) benign	1 lab	c31e07e4d1
11:6532612 DNHD1 C>T	11	6532612	6532612	C	T	DNHD1	c.1345C>T	NM_144666.2	NP_653267.2:p.(Arg449Trp)	NC_000011.9:g.6532612C>T	VUS	1 lab	c31e9a8603
X:49645372 USP27X C>T	X	49645372	49645372	C	T	USP27X	c.462C>T	NM_001145073.2	NP_001138545.1:p.(Ala154=)	NC_000023.10:g.49645372C>T	(Likely) benign	1 lab	c31f179746
1:152285878 FLG G>T	1	152285878	152285878	G	T	FLG	c.1484C>A	NM_002016.1	NP_002007.1:p.(Ser495Ter)	NC_000001.10:g.152285878G>T	(Likely) pathogenic	1 lab	c31f61de17
18:67692058 RTTN G>A	18	67692058	67692058	G	A	RTTN	c.5850C>T	NM_173630.3	NP_775901.3:p.(Val1950=)	NC_000018.9:g.67692058G>A	(Likely) benign	1 lab	c32236f87c
3:15686637 BTD A>G	3	15686637	15686637	A	G	BTD	c.1274A>G	NM_000060.4	NP_000051.1:p.(Tyr425Cys)	NC_000003.11:g.15686637A>G	VUS	1 lab	c3232b495f
16:24202516 PRKCB C>T	16	24202516	24202516	C	T	PRKCB	c.1828C>T	NM_002738.6	NP_002729.2:p.(Arg610Cys)	NC_000016.9:g.24202516C>T	VUS	1 lab	c3239f4a42
7:155604773 SHH G>C	7	155604773	155604773	G	C	SHH	c.44C>G	NM_000193.3	NP_000184.1:p.(Ser15Trp)	NC_000007.13:g.155604773G>C	(Likely) benign	1 lab	c323b9dba8
16:89258141 CDH15 C>T	16	89258141	89258141	C	T	CDH15	c.1454C>T	NM_004933.2	NP_004924.1:p.(Pro485Leu)	NC_000016.9:g.89258141C>T	(Likely) benign	1 lab	c32727a300
6:143091919 HIVEP2 G>C	6	143091919	143091919	G	C	HIVEP2	c.3957C>G	NM_006734.3	NP_006725.3:p.(Ala1319=)	NC_000006.11:g.143091919G>C	(Likely) benign	1 lab	c3275eba7e
16:81324156 BCO1 G>C	16	81324156	81324156	G	C	BCO1	c.1618G>C	NM_017429.2	NP_059125.2:p.(Asp540His)	NC_000016.9:g.81324156G>C	VUS	1 lab	c327cd401b
19:55877538 IL11 C>T	19	55877538	55877538	C	T	IL11	c.437G>A	NM_000641.4	NP_000632.1:p.(Arg146His)	NC_000019.9:g.55877538C>T	(Likely) benign	1 lab	c32934bf4b
X:63412249 AMER1 C>T	X	63412249	63412249	C	T	AMER1	c.918G>A	NM_152424.4	NP_689637.3:p.(Gly306=)	NC_000023.10:g.63412249C>T	(Likely) benign	1 lab	c32d0ba22e
1:160283857 COPA G>A	1	160283857	160283857	G	A	COPA	c.765C>T	NM_001098398.2	NP_001091868.1:p.(Ala255=)	NC_000001.10:g.160283857G>A	(Likely) benign	1 lab	c32d549493
12:102160048 GNPTAB A>G	12	102160048	102160048	A	G	GNPTAB	c.1433T>C	NM_024312.4	NP_077288.2:p.(Ile478Thr)	NC_000012.11:g.102160048A>G	(Likely) benign	1 lab	c32d5a24d6
1:10042423 NMNAT1 G>C	1	10042423	10042423	G	C	NMNAT1	c.504G>C	NM_001297778.1	NP_001284707.1:p.(Leu168Phe)	NC_000001.10:g.10042423G>C	VUS	1 lab	c32fcacc5f
2:166755251 TTC21B T>A	2	166755251	166755251	T	A	TTC21B	c.2895A>T	NM_024753.4	NP_079029.3:p.(Lys965Asn)	NC_000002.11:g.166755251T>A	VUS	1 lab	c3302f3812
7:100859462 PLOD3 G>A	7	100859462	100859462	G	A	PLOD3	c.484C>T	NM_001084.4	NP_001075.1:p.(Arg162Cys)	NC_000007.13:g.100859462G>A	VUS	1 lab	c330c97e3b
17:29685495 NF1 T>G	17	29685495	29685495	T	G	NF1	c.7908-3T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685495T>G	VUS	1 lab	c3312b98b7
1:150525587 ADAMTSL4 C>T	1	150525587	150525587	C	T	ADAMTSL4	c.292C>T	NM_001288608.1	NP_001275537.1:p.(Arg98Trp)	NC_000001.10:g.150525587C>T	VUS	1 lab	c33199f079
9:32987791 APTX C>T	9	32987791	32987791	C	T	APTX	c.234G>A	NM_001195249.1	NP_001182178.1:p.(Glu78=)	NC_000009.11:g.32987791C>T	(Likely) benign	1 lab	c331a0f25b
6:31896561 C2 G>T	6	31896561	31896561	G	T	C2	c.222G>T	NM_001282458.1	NP_001269387.1:p.(Arg74=)	NC_000006.11:g.31896561G>T	(Likely) benign	1 lab	c3326e4f16
19:1073592 ARHGAP45 G>C	19	1073592	1073592	G	C	ARHGAP45	c.650+3G>C	NM_012292.4	NP_036424.2:p.?	NC_000019.9:g.1073592G>C	VUS	1 lab	c333b84ce1
4:1206100 CTBP1 C>G	4	1206100	1206100	C	G	CTBP1	c.1218G>C	NM_001012614.1	NP_001012632.1:p.(Pro406=)	NC_000004.11:g.1206100C>G	(Likely) benign	1 lab	c334020851
19:50306248 AP2A1 T>G	19	50306248	50306248	T	G	AP2A1	c.2223T>G	NM_014203.2	NP_055018.2:p.(Asp741Glu)	NC_000019.9:g.50306248T>G	VUS	1 lab	c3344b419e
16:732079 JMJD8 GAGT>G	16	732079	732082	GAGT	G	JMJD8	c.*712_*714del	NM_001005920.4	NP_001005920.3:p.?	NC_000016.9:g.732080_732082del	VUS	1 lab	c339f00801
5:73205677 ARHGEF28 C>T	5	73205677	73205677	C	T	ARHGEF28	c.4602C>T	NM_001080479.2	NP_001073948.2:p.(Gly1534=)	NC_000005.9:g.73205677C>T	(Likely) benign	1 lab	c33a0a4ac3
1:46662482 POMGNT1 C>A	1	46662482	46662482	C	A	POMGNT1	c.275G>T	NM_001243766.1	NP_001230695.1:p.(Gly92Val)	NC_000001.10:g.46662482C>A	VUS	1 lab	c33aa955c3
X:135431482 ADGRG4 A>G	X	135431482	135431482	A	G	ADGRG4	c.5617A>G	NM_153834.3	NP_722576.3:p.(Ser1873Gly)	NC_000023.10:g.135431482A>G	VUS	1 lab	c33ab1ac52
14:105417216 AHNAK2 C>T	14	105417216	105417216	C	T	AHNAK2	c.4572G>A	NM_138420.3	NP_612429.2:p.(Glu1524=)	NC_000014.8:g.105417216C>T	(Likely) benign	1 lab	c33b58a979
11:31814816 PAX6 T>A	11	31814816	31814816	T	A	PAX6	c.1202A>T	NM_001310159.1	NP_001297088.1:p.(Asp401Val)	NC_000011.9:g.31814816T>A	VUS	1 lab	c33c919db5
16:223216 HBA2 T>G	16	223216	223216	T	G	HBA2	c.188T>G	NM_000517.6	NP_000508.1:p.(Val63Gly)	NC_000016.9:g.223216T>G	VUS	1 lab	c33d24cb57
2:38301573 CYP1B1 A>G	2	38301573	38301573	A	G	CYP1B1	c.959T>C	NM_000104.3	NP_000095.2:p.(Val320Ala)	NC_000002.11:g.38301573A>G	VUS	1 lab	c33fa7859f
X:16773165 SYAP1 G>A	X	16773165	16773165	G	A	SYAP1	c.673G>A	NM_032796.3	NP_116185.2:p.(Ala225Thr)	NC_000023.10:g.16773165G>A	(Likely) benign	1 lab	c341d129a2
16:81953228 PLCG2 C>T	16	81953228	81953228	C	T	PLCG2	c.2194C>T	NM_002661.3	NP_002652.2:p.(Arg732Cys)	NC_000016.9:g.81953228C>T	VUS	1 lab	c34200e71d
14:94413793 ASB2 C>T	14	94413793	94413793	C	T	ASB2	c.954G>A	NM_001202429.1	NP_001189358.1:p.(Glu318=)	NC_000014.8:g.94413793C>T	(Likely) benign	1 lab	c3422bafd3
17:36493586 GPR179 A>T	17	36493586	36493586	A	T	GPR179	c.921T>A	NM_001004334.3	NP_001004334.3:p.(Ser307Arg)	NC_000017.10:g.36493586A>T	(Likely) benign	1 lab	c34491baad
6:71004213 COL9A1 C>T	6	71004213	71004213	C	T	COL9A1	c.353G>A	NM_001851.4	NP_001842.3:p.(Arg118Gln)	NC_000006.11:g.71004213C>T	VUS	1 lab	c345bf1899
X:6451796 VCX3A G>A	X	6451796	6451796	G	A	VCX3A	c.551C>T	NM_016379.3	NP_057463.2:p.(Pro184Leu)	NC_000023.10:g.6451796G>A	(Likely) benign	1 lab	c34b7f99f6
12:109949025 UBE3B G>A	12	109949025	109949025	G	A	UBE3B	c.1873G>A	NM_130466.3	NP_569733.2:p.(Val625Met)	NC_000012.11:g.109949025G>A	VUS	1 lab	c34b84cc0e
5:176638235 NSD1 T>C	5	176638235	176638235	T	C	NSD1	c.2835T>C	NM_022455.4	NP_071900.2:p.(Ser945=)	NC_000005.9:g.176638235T>C	(Likely) benign	1 lab	c34e3a51b7
16:2110813 TSC2 A>C	16	2110813	2110813	A	C	TSC2	c.1118A>C	NM_000548.3	NP_000539.2:p.(Gln373Pro)	NC_000016.9:g.2110813A>C	(Likely) pathogenic	1 lab	c356342df6
18:6999947 LAMA1 C>T	18	6999947	6999947	C	T	LAMA1	c.4432G>A	NM_005559.3	NP_005550.2:p.(Ala1478Thr)	NC_000018.9:g.6999947C>T	VUS	1 lab	c3574ffeb5
X:110973630 ALG13 T>C	X	110973630	110973630	T	C	ALG13	c.2142T>C	NM_001257231.1	NP_001244160.1:p.(Tyr714=)	NC_000023.10:g.110973630T>C	(Likely) benign	1 lab	c357ac8522
5:122722300 CEP120 G>C	5	122722300	122722300	G	C	CEP120	c.1492C>G	NM_153223.3	NP_694955.2:p.(Arg498Gly)	NC_000005.9:g.122722300G>C	VUS	1 lab	c35a5df419
16:75563961 CHST5 C>G	16	75563961	75563961	C	G	CHST5	c.322G>C	NM_024533.4	NP_078809.2:p.(Ala108Pro)	NC_000016.9:g.75563961C>G	(Likely) benign	1 lab	c35a679c06
21:34652169 IL10RB G>A	21	34652169	34652169	G	A	IL10RB				NC_000021.8:g.34652169G>A	(Likely) benign	1 lab	c35bdb092b
X:153587680 FLNA C>T	X	153587680	153587680	C	T	FLNA	c.4237G>A	NM_001110556.2	NP_001104026.1:p.(Glu1413Lys)	NC_000023.10:g.153587680C>T	VUS	1 lab	c35ea5845a
14:23853878 MYH6 G>A	14	23853878	23853878	G	A	MYH6	c.5338C>T	NM_002471.3	NP_002462.2:p.(His1780Tyr)	NC_000014.8:g.23853878G>A	VUS	1 lab	c35fd23a2e
10:49986752 WDFY4 G>A	10	49986752	49986752	G	A	WDFY4	c.3272G>A	NM_020945.1	NP_065996.1:p.(Arg1091His)	NC_000010.10:g.49986752G>A	VUS	1 lab	c360527910
11:17633715 OTOG G>A	11	17633715	17633715	G	A	OTOG	c.6166G>A	NM_001277269.1	NP_001264198.1:p.(Ala2056Thr)	NC_000011.9:g.17633715G>A	(Likely) benign	1 lab	c3616b796f
6:29640802 MOG A>G	6	29640802	29640802	A	G	MOG				NC_000006.11:g.29640802A>G	(Likely) benign	1 lab	c361a7e698
12:7249349 C1RL G>A	12	7249349	7249349	G	A	C1RL	c.1102C>T	NM_016546.4	NP_057630.2:p.(Arg368Cys)	NC_000012.11:g.7249349G>A	(Likely) benign	1 lab	c3630bab13
8:28574547 EXTL3 C>T	8	28574547	28574547	C	T	EXTL3	c.971C>T	NM_001440.3	NP_001431.1:p.(Ser324Phe)	NC_000008.10:g.28574547C>T	VUS	1 lab	c363333509
1:47882150 FOXE3 C>A	1	47882150	47882150	C	A	FOXE3	c.163C>A	NM_012186.2	NP_036318.1:p.(Pro55Thr)	NC_000001.10:g.47882150C>A	(Likely) benign	1 lab	c36698d12d
11:6643502 DCHS1 G>A	11	6643502	6643502	G	A	DCHS1				NC_000011.9:g.6643502G>A	VUS	1 lab	c367cc6d13
2:20141619 WDR35 A>C	2	20141619	20141619	A	C	WDR35	c.1879-19T>G	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20141619A>C	(Likely) benign	1 lab	c369373df6
17:41201131 BRCA1 T>C	17	41201131	41201131	T	C	BRCA1	c.5406+7A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201131T>C	VUS	1 lab	c36ce01b3d
14:45605287 FANCM G>A	14	45605287	45605287	G	A	FANCM	c.53G>A	NM_020937.2	NP_065988.1:p.(Arg18Gln)	NC_000014.8:g.45605287G>A	VUS	1 lab	c36dc44ef3
1:214814632 CENPF C>T	1	214814632	214814632	C	T	CENPF	c.2951C>T	NM_016343.3	NP_057427.3:p.(Ala984Val)	NC_000001.10:g.214814632C>T	(Likely) benign	1 lab	c36dec3d9b
22:50303705 ALG12 G>A	22	50303705	50303705	G	A	ALG12	c.501C>T	NM_024105.3	NP_077010.1:p.(His167=)	NC_000022.10:g.50303705G>A	(Likely) benign	1 lab	c36e3a5582
17:64059142 CEP112 G>A	17	64059142	64059142	G	A	CEP112	c.1013C>T	NM_001199165.4	NP_001186094.1:p.(Ala338Val)	NC_000017.10:g.64059142G>A	(Likely) benign	1 lab	c36ee90625
11:73844611 C2CD3 G>C	11	73844611	73844611	G	C	C2CD3	c.956-9C>G	NM_001286577.1	NP_001273506.1:p.?	NC_000011.9:g.73844611G>C	(Likely) benign	1 lab	c370412e57
1:43887793 SZT2 GC>G	1	43887793	43887796	GC	G	SZT2	c.1669del	NM_001365999.1	NP_001352928.1:p.(Gln557SerfsTer28)	NC_000001.10:g.43887796del	(Likely) pathogenic	1 lab	c3723cc775
X:129148844 BCORL1 C>T	X	129148844	129148844	C	T	BCORL1	c.2096C>T	NM_001184772.2	NP_001171701.1:p.(Pro699Leu)	NC_000023.10:g.129148844C>T	VUS	1 lab	c375127ba3
18:44109230 LOXHD1 C>T	18	44109230	44109230	C	T	LOXHD1	c.4440G>A	NM_144612.6	NP_653213.6:p.(Val1480=)	NC_000018.9:g.44109230C>T	VUS	1 lab	c375fed8b8
1:197297623 CRB1 T>A	1	197297623	197297623	T	A	CRB1	c.142T>A	NM_201253.2	NP_957705.1:p.(Phe48Ile)	NC_000001.10:g.197297623T>A	(Likely) benign	1 lab	c377ce9815
1:172501730 SUCO T>C	1	172501730	172501730	T	C	SUCO	c.118T>C	NM_016227.3	NP_057311.3:p.(Ser40Pro)	NC_000001.10:g.172501730T>C	(Likely) benign	1 lab	c378d9b302
6:135715993 AHI1 G>A	6	135715993	135715993	G	A	AHI1	c.3030C>T	NM_001350503.1	NP_001337432.1:p.(Ser1010=)	NC_000006.11:g.135715993G>A	(Likely) benign	1 lab	c3795b9598
X:57475046 FAAH2 G>A	X	57475046	57475046	G	A	FAAH2	c.1318G>A	NM_174912.3	NP_777572.2:p.(Val440Met)	NC_000023.10:g.57475046G>A	(Likely) benign	1 lab	c3797a9209
6:7555963 DSP G>A	6	7555963	7555963	G	A	DSP	c.183G>A	NM_004415.2	NP_004406.2:p.(Thr61=)	NC_000006.11:g.7555963G>A	(Likely) benign	1 lab	c3798c01fa
8:32472045 NRG1 T>C	8	32472045	32472045	T	C	NRG1	c.414T>C	NM_013956.4	NP_039250.2:p.(Gly138=)	NC_000008.10:g.32472045T>C	(Likely) benign	1 lab	c37ac0764a
15:51285669 AP4E1 T>C	15	51285669	51285669	T	C	AP4E1	c.2193T>C	NM_007347.4	NP_031373.2:p.(Pro731=)	NC_000015.9:g.51285669T>C	(Likely) benign	1 lab	c37ae9a05e
X:128940396 ZDHHC9 G>A	X	128940396	128940396	G	A	ZDHHC9	c.1045C>T	NM_001008222.2	NP_001008223.1:p.(Pro349Ser)	NC_000023.10:g.128940396G>A	(Likely) benign	1 lab	c37b402a04
X:153208475 RENBP C>T	X	153208475	153208475	C	T	RENBP	c.519G>A	NM_002910.5	NP_002901.2:p.(Ser173=)	NC_000023.10:g.153208475C>T	(Likely) benign	1 lab	c37e23595b
13:32907141 BRCA2 GAGAATCACCT>G	13	32907141	32907152	GAGAATCACCT	G	BRCA2	c.1528_1537del	NM_000059.4	NP_000050.3:p.(Glu510LysfsTer12)	NC_000013.10:g.32907143_32907152del	(Likely) pathogenic	1 lab	c3807249b0
2:73115662 SPR C>A	2	73115662	73115662	C	A	SPR	c.524C>A	NM_003124.4	NP_003115.1:p.(Ala175Asp)	NC_000002.11:g.73115662C>A	VUS	1 lab	c381f5f0c4
19:38655207 SIPA1L3 C>T	19	38655207	38655207	C	T	SIPA1L3	c.3869C>T	NM_015073.2	NP_055888.1:p.(Pro1290Leu)	NC_000019.9:g.38655207C>T	VUS	1 lab	c382bcb930
7:73467625 ELN G>A	7	73467625	73467625	G	A	ELN	c.1082G>A	NM_001278939.1	NP_001265868.1:p.(Gly361Asp)	NC_000007.13:g.73467625G>A	(Likely) benign	1 lab	c383001819
X:70472537 ZMYM3 G>A	X	70472537	70472537	G	A	ZMYM3	c.569C>T	NM_001171162.1	NP_001164633.1:p.(Pro190Leu)	NC_000023.10:g.70472537G>A	VUS	1 lab	c38469735e
17:7750573 KDM6B C>T	17	7750573	7750573	C	T	KDM6B	c.1060C>T	NM_001080424.2	NP_001073893.1:p.(Arg354Cys)	NC_000017.10:g.7750573C>T	VUS	1 lab	c3995711c2
17:18389268 LGALS9C C>T	17	18389268	18389268	C	T	LGALS9C	c.152C>T	NM_001040078.2	NP_001035167.2:p.(Thr51Met)	NC_000017.10:g.18389268C>T	VUS	1 lab	c388dd1a89
10:72192812 NODAL G>A	10	72192812	72192812	G	A	NODAL	c.924C>T	NM_018055.4	NP_060525.3:p.(Val308=)	NC_000010.10:g.72192812G>A	(Likely) benign	1 lab	c389268540
11:66639295 PC G>A	11	66639295	66639295	G	A	PC	c.184C>T	NM_001040716.1	NP_001035806.1:p.(Arg62Cys)	NC_000011.9:g.66639295G>A	VUS	1 lab	c38f46bdf8
14:21992015 SALL2 G>A	14	21992015	21992015	G	A	SALL2	c.1847C>T	NM_005407.2	NP_005398.2:p.(Thr616Ile)	NC_000014.8:g.21992015G>A	VUS	1 lab	c38fb50c5b
19:39033997 RYR1 C>G	19	39033997	39033997	C	G	RYR1	c.11700C>G	NM_000540.2	NP_000531.2:p.(Asn3900Lys)	NC_000019.9:g.39033997C>G	VUS	1 lab	c391ffb7b0
19:46443516 NOVA2 C>T	19	46443516	46443516	C	T	NOVA2	c.1084G>A	NM_002516.4	NP_002507.1:p.(Ala362Thr)	NC_000019.9:g.46443516C>T	(Likely) benign	1 lab	c3920deedf
11:103022933 DYNC2H1 A>G	11	103022933	103022933	A	G	DYNC2H1	c.3015A>G	NM_001080463.1	NP_001073932.1:p.(Leu1005=)	NC_000011.9:g.103022933A>G	VUS	1 lab	c39219dacb
14:91805677 CCDC88C G>C	14	91805677	91805677	G	C	CCDC88C	c.754C>G	NM_001080414.3	NP_001073883.2:p.(Leu252Val)	NC_000014.8:g.91805677G>C	(Likely) benign	1 lab	c39345e374
14:89291171 TTC8 G>A	14	89291171	89291171	G	A	TTC8	c.114+6G>A	NM_001288781.1	NP_001275710.1:p.?	NC_000014.8:g.89291171G>A	(Likely) benign	1 lab	c394b49e1d
8:145699754 FOXH1 C>T	8	145699754	145699754	C	T	FOXH1	c.965G>A	NM_003923.2	NP_003914.1:p.(Gly322Glu)	NC_000008.10:g.145699754C>T	(Likely) benign	1 lab	c398622336
9:14805130 FREM1 T>A	9	14805130	14805130	T	A	FREM1	c.3295A>T	NM_144966.5	NP_659403.4:p.(Met1099Leu)	NC_000009.11:g.14805130T>A	(Likely) benign	1 lab	c39bb9ccc5
4:126240860 FAT4 T>A	4	126240860	126240860	T	A	FAT4	c.3294T>A	NM_001291303.1	NP_001278232.1:p.(Pro1098=)	NC_000004.11:g.126240860T>A	(Likely) benign	1 lab	c39c79d7cc
18:51025821 DCC C>T	18	51025821	51025821	C	T	DCC	c.4052C>T	NM_005215.3	NP_005206.2:p.(Pro1351Leu)	NC_000018.9:g.51025821C>T	VUS	1 lab	c39e129b45
X:47307297 ZNF41 C>T	X	47307297	47307297	C	T	ZNF41	c.1872G>A	NM_007130.3	NP_009061.1:p.(Ala624=)	NC_000023.10:g.47307297C>T	(Likely) benign	1 lab	c39e6eac12
2:209010569 CRYGB C>T	2	209010569	209010569	C	T	CRYGB	c.181G>A	NM_005210.3	NP_005201.2:p.(Gly61Arg)	NC_000002.11:g.209010569C>T	VUS	1 lab	c39f52fe9a
12:13906670 GRIN2B C>T	12	13906670	13906670	C	T	GRIN2B	c.591G>A	NM_000834.4	NP_000825.2:p.(Trp197Ter)	NC_000012.11:g.13906670C>T	(Likely) pathogenic	1 lab	c3a14ec6f1
15:49033819 CEP152 G>C	15	49033819	49033819	G	C	CEP152	c.4072C>G	NM_001194998.1	NP_001181927.1:p.(Gln1358Glu)	NC_000015.9:g.49033819G>C	(Likely) benign	1 lab	c3a1bb2526
7:819747 DNAAF5 C>T	7	819747	819747	C	T	DNAAF5	c.2397C>T	NM_017802.3	NP_060272.3:p.(Asp799=)	NC_000007.13:g.819747C>T	(Likely) benign	1 lab	c3a36cf84f
X:152845737 ATP2B3 G>A	X	152845737	152845737	G	A	ATP2B3	c.3644G>A	NM_001001344.2	NP_001001344.1:p.(Ser1215Asn)	NC_000023.10:g.152845737G>A	VUS	1 lab	c3a3d48009
16:2114271 TSC2 A>G	16	2114271	2114271	A	G	TSC2	c.1444-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2114271A>G	(Likely) pathogenic	1 lab	c3a984a040
16:15831364 MYH11 C>T	16	15831364	15831364	C	T	MYH11	c.3256G>A	NM_001040113.1	NP_001035202.1:p.(Ala1086Thr)	NC_000016.9:g.15831364C>T	VUS	1 lab	c3aabe14a9
16:70908728 HYDIN T>C	16	70908728	70908728	T	C	HYDIN	c.10652A>G	NM_001270974.2	NP_001257903.1:p.(His3551Arg)	NC_000016.9:g.70908728T>C	(Likely) benign	1 lab	c3ab37fcfb
6:152722328 SYNE1 T>C	6	152722328	152722328	T	C	SYNE1	c.6974A>G	NM_182961.3	NP_892006.3:p.(Glu2325Gly)	NC_000006.11:g.152722328T>C	VUS	1 lab	c3ad11a6ca
20:3210056 SLC4A11 G>A	20	3210056	3210056	G	A	SLC4A11	c.1914C>T	NM_001174090.1	NP_001167561.1:p.(Cys638=)	NC_000020.10:g.3210056G>A	(Likely) benign	1 lab	c3ad74da5a
21:46951919 SLC19A1 C>G	21	46951919	46951919	C	G	SLC19A1	c.333G>C	NM_194255.3	NP_919231.1:p.(Leu111=)	NC_000021.8:g.46951919C>G	(Likely) benign	1 lab	c3b0a1e77d
16:88786910 PIEZO1 G>A	16	88786910	88786910	G	A	PIEZO1	c.5832C>T	NM_001142864.4	NP_001136336.2:p.(Arg1944=)	NC_000016.9:g.88786910G>A	(Likely) benign	1 lab	c3b12b5a90
X:32591690 DMD A>T	X	32591690	32591690	A	T	DMD	c.1400T>A	NM_004010.3	NP_004001.1:p.(Phe467Tyr)	NC_000023.10:g.32591690A>T	(Likely) benign	1 lab	c3b1396f48
14:76156540 TTLL5 A>C	14	76156540	76156540	A	C	TTLL5	c.377A>C	NM_015072.4	NP_055887.3:p.(Tyr126Ser)	NC_000014.8:g.76156540A>C	VUS	1 lab	c3b2921716
18:24722713 CHST9 C>T	18	24722713	24722713	C	T	CHST9	c.61G>A	NM_031422.5	NP_113610.2:p.(Gly21Arg)	NC_000018.9:g.24722713C>T	VUS	1 lab	c3b3798e15
10:73553138 CDH23 C>A	10	73553138	73553138	C	A	CDH23	c.6453C>A	NM_022124.5	NP_071407.4:p.(Thr2151=)	NC_000010.10:g.73553138C>A	(Likely) benign	1 lab	c3b3eb9a26
X:37028180 FAM47C G>A	X	37028180	37028180	G	A	FAM47C	c.1697G>A	NM_001013736.2	NP_001013758.1:p.(Arg566Gln)	NC_000023.10:g.37028180G>A	(Likely) benign	1 lab	c3b8d9db89
9:13190168 MPDZ T>C	9	13190168	13190168	T	C	MPDZ	c.2099A>G	NM_003829.4	NP_003820.2:p.(His700Arg)	NC_000009.11:g.13190168T>C	(Likely) benign	1 lab	c3b99b7866
11:118959023 HMBS G>A	11	118959023	118959023	G	A	HMBS	c.87+5G>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118959023G>A	(Likely) pathogenic	1 lab	c3bb736789
X:12724940 FRMPD4 C>T	X	12724940	12724940	C	T	FRMPD4	c.1198-5C>T	NM_014728.3	NP_055543.2:p.?	NC_000023.10:g.12724940C>T	(Likely) benign	1 lab	c3bc6ca5fc
10:73553272 CDH23 T>A	10	73553272	73553272	T	A	CDH23	c.6587T>A	NM_022124.5	NP_071407.4:p.(Ile2196Asn)	NC_000010.10:g.73553272T>A	VUS	1 lab	c3bdb662ff
4:15554829 CC2D2A T>G	4	15554829	15554829	T	G	CC2D2A	c.2387T>G	NM_001080522.2	NP_001073991.2:p.(Met796Arg)	NC_000004.11:g.15554829T>G	VUS	1 lab	c3be33e44e
17:39684463 KRT19 A>G	17	39684463	39684463	A	G	KRT19	c.37T>C	NM_002276.4	NP_002267.2:p.(Ser13Pro)	NC_000017.10:g.39684463A>G	VUS	1 lab	c3bf436ffe
2:179636163 TTN C>T	2	179636163	179636163	C	T	TTN	c.7891G>A	NM_001267550.1	NP_001254479.1:p.(Val2631Ile)	NC_000002.11:g.179636163C>T	VUS	1 lab	c3c1d2d55d
9:2104069 SMARCA2 G>T	9	2104069	2104069	G	T	SMARCA2	c.3192G>T	NM_003070.4	NP_003061.3:p.(Ala1064=)	NC_000009.11:g.2104069G>T	(Likely) benign	1 lab	c3c22e3674
18:67721340 RTTN A>G	18	67721340	67721340	A	G	RTTN	c.5185+27T>C	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67721340A>G	(Likely) benign	1 lab	c3c23f7ba9
4:15601232 CC2D2A C>T	4	15601232	15601232	C	T	CC2D2A	c.4577C>T	NM_001080522.2	NP_001073991.2:p.(Thr1526Ile)	NC_000004.11:g.15601232C>T	(Likely) benign	1 lab	c3c37cf27b
5:122722300 CEP120 G>A	5	122722300	122722300	G	A	CEP120	c.1492C>T	NM_153223.3	NP_694955.2:p.(Arg498Trp)	NC_000005.9:g.122722300G>A	VUS	1 lab	c3c528fec9
15:31355370 TRPM1 G>A	15	31355370	31355370	G	A	TRPM1	c.967C>T	NM_001252020.1	NP_001238949.1:p.(Arg323Cys)	NC_000015.9:g.31355370G>A	VUS	1 lab	c3c71be377
X:152991293 ABCD1 G>A	X	152991293	152991293	G	A	ABCD1	c.572G>A	NM_000033.3	NP_000024.2:p.(Arg191His)	NC_000023.10:g.152991293G>A	VUS	1 lab	c3c82246f2
16:67685730 CARMIL2 A>T	16	67685730	67685730	A	T	CARMIL2	c.2570A>T	NM_001013838.2	NP_001013860.1:p.(Asp857Val)	NC_000016.9:g.67685730A>T	VUS	1 lab	c3cb0b2632
17:73759091 GALK1 C>A	17	73759091	73759091	C	A	GALK1	c.611+4G>T	NM_000154.1	NP_000145.1:p.?	NC_000017.10:g.73759091C>A	(Likely) benign	1 lab	c3cc39e32f
17:77758027 CBX2 G>A	17	77758027	77758027	G	A	CBX2	c.785G>A	NM_005189.2	NP_005180.1:p.(Arg262Gln)	NC_000017.10:g.77758027G>A	VUS	1 lab	c3cc3d1c17
9:71851900 TJP2 G>C	9	71851900	71851900	G	C	TJP2	c.2027G>C	NM_004817.4	NP_004808.2:p.(Arg676Thr)	NC_000009.11:g.71851900G>C	VUS	1 lab	c3ce2b7ddf
17:78014024 CCDC40 G>A	17	78014024	78014024	G	A	CCDC40	c.507G>A	NM_017950.3	NP_060420.2:p.(Ser169=)	NC_000017.10:g.78014024G>A	(Likely) benign	1 lab	c3d117f865
2:98846587 VWA3B C>T	2	98846587	98846587	C	T	VWA3B	c.2225C>T	NM_144992.4	NP_659429.4:p.(Thr742Ile)	NC_000002.11:g.98846587C>T	(Likely) benign	1 lab	c3d64ee886
6:71004246 COL9A1 AG>A	6	71004246	71004247	AG	A	COL9A1	c.319del	NM_001851.6	NP_001842.3:p.(Leu107CysfsTer8)	NC_000006.11:g.71004247del	(Likely) pathogenic	1 lab	c3d6858ab4
20:61917382 ARFGAP1 G>A	20	61917382	61917382	G	A	ARFGAP1	c.885G>A	NM_001281482.1	NP_001268411.1:p.(Leu295=)	NC_000020.10:g.61917382G>A	(Likely) benign	1 lab	c3d6ac00b3
19:43383728 PSG1 T>C	19	43383728	43383728	T	C	PSG1	c.6A>G	NM_006905.2	NP_008836.2:p.(Gly2=)	NC_000019.9:g.43383728T>C	(Likely) benign	1 lab	c3d767ee3f
15:38811563 RASGRP1 A>G	15	38811563	38811563	A	G	RASGRP1	c.336T>C	NM_005739.3	NP_005730.2:p.(Asp112=)	NC_000015.9:g.38811563A>G	(Likely) benign	1 lab	c3d7f1d026
10:104160715 NFKB2 C>T	10	104160715	104160715	C	T	NFKB2	c.1980C>T	NM_001288724.1	NP_001275653.1:p.(Asn660=)	NC_000010.10:g.104160715C>T	(Likely) benign	1 lab	c3d8cb8fbb
13:109614807 MYO16 G>A	13	109614807	109614807	G	A	MYO16	c.2191G>A	NM_001198950.3	NP_001185879.1:p.(Ala731Thr)	NC_000013.10:g.109614807G>A	VUS	1 lab	c3da1cc1c2
15:62221926 VPS13C G>A	15	62221926	62221926	G	A	VPS13C	c.6060C>T	NM_001018088.2	NP_001018098.1:p.(Asp2020=)	NC_000015.9:g.62221926G>A	(Likely) benign	1 lab	c3db850707
13:110861671 COL4A1 T>G	13	110861671	110861671	T	G	COL4A1	c.651+68A>C	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110861671T>G	(Likely) benign	1 lab	c3dd7503f1
9:2718862 KCNV2 G>A	9	2718862	2718862	G	A	KCNV2	c.1123G>A	NM_133497.3	NP_598004.1:p.(Val375Met)	NC_000009.11:g.2718862G>A	(Likely) pathogenic	1 lab	c3de43be52
17:17701285 RAI1 G>C	17	17701285	17701285	G	C	RAI1	c.5023G>C	NM_030665.3	NP_109590.3:p.(Val1675Leu)	NC_000017.10:g.17701285G>C	(Likely) benign	1 lab	c3df0db0cf
12:49689231 PRPH C>T	12	49689231	49689231	C	T	PRPH	c.248C>T	NM_006262.3	NP_006253.2:p.(Ala83Val)	NC_000012.11:g.49689231C>T	VUS	1 lab	c3dfdbbdf1
8:144995376 PLEC G>A	8	144995376	144995376	G	A	PLEC	c.9024C>T	NM_201380.3	NP_958782.1:p.(Cys3008=)	NC_000008.10:g.144995376G>A	(Likely) benign	1 lab	c3e011c91b
X:100241871 ARL13A A>G	X	100241871	100241871	A	G	ARL13A	c.467A>G	NM_001162491.1	NP_001155963.1:p.(Asn156Ser)	NC_000023.10:g.100241871A>G	(Likely) benign	1 lab	c3e0db84ba
X:153133886 L1CAM C>T	X	153133886	153133886	C	T	L1CAM	c.1574G>A	NM_001278116.1	NP_001265045.1:p.(Arg525His)	NC_000023.10:g.153133886C>T	(Likely) benign	1 lab	c3e3b14d71
3:184042125 EIF4G1 A>C	3	184042125	184042125	A	C	EIF4G1	c.2612A>C	NM_182917.4	NP_886553.3:p.(Glu871Ala)	NC_000003.11:g.184042125A>C	(Likely) benign	1 lab	c3e5f25c0c
8:12952417 DLC1 C>T	8	12952417	12952417	C	T	DLC1	c.3377G>A	NM_182643.2	NP_872584.2:p.(Arg1126His)	NC_000008.10:g.12952417C>T	VUS	1 lab	c3e5fc0a28
17:79826686 ARHGDIA T>TG	17	79826686	79826693	T	TG	ARHGDIA	c.568dup	NM_001301242.1	NP_001288171.1:p.(Gln190ProfsTer11)	NC_000017.10:g.79826693dup	VUS	1 lab	c3e61aca3a
14:58975409 KIAA0586 C>G	14	58975409	58975409	C	G	KIAA0586	c.4305C>G	NM_001329943.2	NP_001316872.1:p.(Ala1435=)	NC_000014.8:g.58975409C>G	(Likely) benign	1 lab	c3e668caf3
14:50101790 DNAAF2 G>A	14	50101790	50101790	G	A	DNAAF2	c.78C>T	NM_018139.2	NP_060609.2:p.(Ala26=)	NC_000014.8:g.50101790G>A	(Likely) benign	1 lab	c3e741a5e3
12:111856288 SH2B3 T>C	12	111856288	111856288	T	C	SH2B3	c.339T>C	NM_005475.2	NP_005466.1:p.(Pro113=)	NC_000012.11:g.111856288T>C	(Likely) benign	1 lab	c3e9ccdec2
18:29447441 TRAPPC8 TA>T	18	29447441	29447447	TA	T	TRAPPC8	c.2389-3del	NM_014939.5	NP_055754.3:p.?	NC_000018.9:g.29447447del	(Likely) benign	1 lab	c3eb6eba86
1:228434299 OBSCN C>A	1	228434299	228434299	C	A	OBSCN	c.4104C>A	NM_001271223.2	NP_001258152.2:p.(Ala1368=)	NC_000001.10:g.228434299C>A	(Likely) benign	1 lab	c3ed30360e
11:6532654 DNHD1 C>T	11	6532654	6532654	C	T	DNHD1	c.1387C>T	NM_144666.2	NP_653267.2:p.(Arg463Ter)	NC_000011.9:g.6532654C>T	VUS	1 lab	c3eef4b98c
17:78171904 CARD14 C>T	17	78171904	78171904	C	T	CARD14	c.1601C>T	NM_024110.4	NP_077015.2:p.(Pro534Leu)	NC_000017.10:g.78171904C>T	(Likely) benign	1 lab	c3efa07115
18:43534400 EPG5 C>A	18	43534400	43534400	C	A	EPG5	c.968G>T	NM_020964.3	NP_066015.2:p.(Ser323Ile)	NC_000018.9:g.43534400C>A	VUS	1 lab	c3f0c28a3d
18:55218656 FECH CT>C	18	55218656	55218665	CT	C	FECH	c.1078-51del	NM_000140.5	NP_000131.2:p.?	NC_000018.9:g.55218665del	(Likely) benign	1 lab	c3f142aa4f
11:9202340 DENND5A T>C	11	9202340	9202340	T	C	DENND5A	c.1141A>G	NM_001348750.1	NP_001335679.1:p.(Lys381Glu)	NC_000011.9:g.9202340T>C	VUS	1 lab	c3f35cb12c
11:1081786 MISSING G>A	11	1081786	1081786	G	A	MISSING				NC_000011.9:g.1081786G>A	VUS	1 lab	c3f67b5878
11:1266280 MUC5B A>C	11	1266280	1266280	A	C	MUC5B	c.8170A>C	NM_002458.2	NP_002449.2:p.(Thr2724Pro)	NC_000011.9:g.1266280A>C	VUS	1 lab	c3f6c24cd1
22:40814887 MRTFA C>T	22	40814887	40814887	C	T	MRTFA				NC_000022.10:g.40814887C>T	VUS	1 lab	c45a30d28f
X:64749565 LAS1L C>T	X	64749565	64749565	C	T	LAS1L	c.708G>A	NM_031206.4	NP_112483.1:p.(Thr236=)	NC_000023.10:g.64749565C>T	(Likely) benign	1 lab	c3f935bf47
1:213032041 FLVCR1 C>T	1	213032041	213032041	C	T	FLVCR1	c.247C>T	NM_014053.3	NP_054772.1:p.(Pro83Ser)	NC_000001.10:g.213032041C>T	(Likely) benign	1 lab	c3fa070ef7
8:38282220 FGFR1 G>A	8	38282220	38282220	G	A	FGFR1	c.746-3C>T	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38282220G>A	(Likely) benign	1 lab	c3fa460944
16:83999136 OSGIN1 G>A	16	83999136	83999136	G	A	OSGIN1	c.958G>A	NM_182981.2	NP_892026.1:p.(Asp320Asn)	NC_000016.9:g.83999136G>A	(Likely) benign	1 lab	c3fb86ed43
17:80858576 TBCD C>G	17	80858576	80858576	C	G	TBCD	c.1699C>G	NM_005993.4	NP_005984.3:p.(Leu567Val)	NC_000017.10:g.80858576C>G	VUS	1 lab	c3fc3d23ee
X:47061861 UBA1 G>C	X	47061861	47061861	G	C	UBA1	c.1014G>C	NM_003334.4	NP_003325.2:p.(Gln338His)	NC_000023.10:g.47061861G>C	VUS	1 lab	c3fe947ac3
17:6499505 KIAA0753 G>A	17	6499505	6499505	G	A	KIAA0753	c.1434C>T	NM_001351225.1	NP_001338154.1:p.(Ile478=)	NC_000017.10:g.6499505G>A	(Likely) benign	1 lab	c3fee1e9b7
19:35862651 GPR42 G>A	19	35862651	35862651	G	A	GPR42	c.390G>A	NM_001348195.1	NP_001335124.1:p.(Gly130=)	NC_000019.9:g.35862651G>A	(Likely) benign	1 lab	c3ff6e0510
16:11001377 CIITA G>C	16	11001377	11001377	G	C	CIITA	c.2031G>C	NM_001286402.1	NP_001273331.1:p.(Gln677His)	NC_000016.9:g.11001377G>C	VUS	1 lab	c3ff81d1b2
16:21281176 CRYM G>A	16	21281176	21281176	G	A	CRYM	c.424C>T	NM_001888.4	NP_001879.1:p.(Leu142Phe)	NC_000016.9:g.21281176G>A	VUS	1 lab	c3ffc43c2d
9:101304308 GABBR2 G>T	9	101304308	101304308	G	T	GABBR2	c.477C>A	NM_005458.7	NP_005449.5:p.(Thr159=)	NC_000009.11:g.101304308G>T	(Likely) benign	1 lab	c401c70abd
X:30578111 TASL C>A	X	30578111	30578111	C	A	TASL	c.362G>T	NM_025159.2	NP_079435.1:p.(Cys121Phe)	NC_000023.10:g.30578111C>A	(Likely) benign	1 lab	c40480d1d4
17:76991167 CANT1 G>A	17	76991167	76991167	G	A	CANT1	c.768C>T	NM_138793.3	NP_620148.1:p.(Ser256=)	NC_000017.10:g.76991167G>A	(Likely) benign	1 lab	c40559c9f7
X:123518603 TENM1 C>A	X	123518603	123518603	C	A	TENM1	c.6178G>T	NM_001163278.1	NP_001156750.1:p.(Ala2060Ser)	NC_000023.10:g.123518603C>A	VUS	1 lab	c40725605a
19:39002912 RYR1 C>T	19	39002912	39002912	C	T	RYR1	c.9261C>T	NM_000540.2	NP_000531.2:p.(Ile3087=)	NC_000019.9:g.39002912C>T	(Likely) benign	1 lab	c407f48cda
16:72132954 DHX38 G>T	16	72132954	72132954	G	T	DHX38	c.883+10G>T	NM_014003.3	NP_054722.2:p.?	NC_000016.9:g.72132954G>T	(Likely) benign	1 lab	c4084d356c
11:65414479 SIPA1 G>A	11	65414479	65414479	G	A	SIPA1	c.1974G>A	NM_153253.29	NP_694985.29:p.(Thr658=)	NC_000011.9:g.65414479G>A	(Likely) benign	1 lab	c4086c562d
X:149099011 HSFX4 C>CA	X	149099011	149099012	C	CA	HSFX4	c.691dup	NM_001351114.1	NP_001338043.1:p.(Ser231LysfsTer24)	NC_000023.10:g.149099012dup	(Likely) pathogenic	1 lab	c409b8316a
12:88909331 KITLG T>A	12	88909331	88909331	T	A	KITLG	c.584A>T	NM_000899.4	NP_000890.1:p.(Asn195Ile)	NC_000012.11:g.88909331T>A	VUS	1 lab	c409f6c4aa
17:7504858 FXR2 G>A	17	7504858	7504858	G	A	FXR2	c.544-15C>T	NM_004860.3	NP_004851.2:p.?	NC_000017.10:g.7504858G>A	(Likely) benign	1 lab	c40b08da88
22:51153370 MISSING C>T	22	51153370	51153370	C	T	MISSING				NC_000022.10:g.51153370C>T	(Likely) benign	1 lab	c40c9e17b2
11:9191452 DENND5A C>T	11	9191452	9191452	C	T	DENND5A	c.1814G>A	NM_001348750.1	NP_001335679.1:p.(Arg605Gln)	NC_000011.9:g.9191452C>T	VUS	1 lab	c40d60b294
17:29422385 NF1 C>T	17	29422385	29422385	C	T	NF1	c.58C>T	NM_000267.3	NP_000258.1:p.(Gln20Ter)	NC_000017.10:g.29422385C>T	(Likely) pathogenic	1 lab	c40db537f8
X:105167410 NRK G>C	X	105167410	105167410	G	C	NRK	c.2911G>C	NM_198465.3	NP_940867.2:p.(Asp971His)	NC_000023.10:g.105167410G>C	(Likely) benign	1 lab	c40dc30420
5:140168112 PCDHA1 G>T	5	140168112	140168112	G	T	PCDHA1	c.2237G>T	NM_018900.3	NP_061723.1:p.(Gly746Val)	NC_000005.9:g.140168112G>T	VUS	1 lab	c40f3ed881
7:5568858 ACTB C>T	7	5568858	5568858	C	T	ACTB	c.297G>A	NM_001101.3	NP_001092.1:p.(Glu99=)	NC_000007.13:g.5568858C>T	(Likely) benign	1 lab	c40f52f70f
3:126193981 ZXDC C>G	3	126193981	126193981	C	G	ZXDC	c.728G>C	NM_001040653.3	NP_001035743.1:p.(Gly243Ala)	NC_000003.11:g.126193981C>G	VUS	1 lab	c410a6a457
1:3328601 PRDM16 G>A	1	3328601	3328601	G	A	PRDM16	c.1840G>A	NM_022114.3	NP_071397.3:p.(Asp614Asn)	NC_000001.10:g.3328601G>A	VUS	1 lab	c410ec6849
18:34289205 FHOD3 C>G	18	34289205	34289205	C	G	FHOD3	c.2384C>G	NM_001281740.2	NP_001268669.1:p.(Pro795Arg)	NC_000018.9:g.34289205C>G	VUS	1 lab	c412205e8a
13:43155305 TNFSF11 A>G	13	43155305	43155305	A	G	TNFSF11	c.44A>G	NM_033012.3	NP_143026.1:p.(Tyr15Cys)	NC_000013.10:g.43155305A>G	VUS	1 lab	c412c809bc
X:41530769 CASK G>A	X	41530769	41530769	G	A	CASK	c.444C>T	NM_001367721.1	NP_001354650.1:p.(Leu148=)	NC_000023.10:g.41530769G>A	(Likely) benign	1 lab	c414ff2a5b
1:112524392 KCND3 G>C	1	112524392	112524392	G	C	KCND3	c.957C>G	NM_004980.4	NP_004971.2:p.(Ser319=)	NC_000001.10:g.112524392G>C	(Likely) benign	1 lab	c4184f2b3f
X:82763713 POU3F4 C>T	X	82763713	82763713	C	T	POU3F4	c.381C>T	NM_000307.4	NP_000298.3:p.(Ser127=)	NC_000023.10:g.82763713C>T	(Likely) benign	1 lab	c419594fde
18:43496124 EPG5 A>G	18	43496124	43496124	A	G	EPG5	c.3432T>C	NM_020964.3	NP_066015.2:p.(Ala1144=)	NC_000018.9:g.43496124A>G	(Likely) benign	1 lab	c4199c2baa
15:73029294 BBS4 G>A	15	73029294	73029294	G	A	BBS4	c.1440G>A	NM_033028.4	NP_149017.2:p.(Thr480=)	NC_000015.9:g.73029294G>A	(Likely) benign	1 lab	c419da5f93
6:33744722 LEMD2 G>A	6	33744722	33744722	G	A	LEMD2	c.1361+9C>T	NM_181336.3	NP_851853.1:p.?	NC_000006.11:g.33744722G>A	(Likely) benign	1 lab	c41bbdbc8c
8:22269540 SLC39A14 C>T	8	22269540	22269540	C	T	SLC39A14	c.458-10C>T	NM_001135153.2	NP_001128625.1:p.?	NC_000008.10:g.22269540C>T	VUS	1 lab	c41db25c68
17:29550492 NF1 A>ATT	17	29550492	29550494	A	ATT	NF1	c.1753_1754dup	NM_000267.3	NP_000258.1:p.(Leu585PhefsTer2)	NC_000017.10:g.29550493_29550494dup	(Likely) pathogenic	1 lab	c41eec90b4
2:71776484 DYSF G>A	2	71776484	71776484	G	A	DYSF	c.1578G>A	NM_001130979.1	NP_001124451.1:p.(Glu526=)	NC_000002.11:g.71776484G>A	(Likely) benign	1 lab	c42119dc6b
20:61947956 COL20A1 T>G	20	61947956	61947956	T	G	COL20A1	c.2576T>G	NM_020882.2	NP_065933.2:p.(Ile859Ser)	NC_000020.10:g.61947956T>G	VUS	1 lab	c4217834e3
9:131742952 NUP188 C>G	9	131742952	131742952	C	G	NUP188	c.1337C>G	NM_015354.2	NP_056169.1:p.(Pro446Arg)	NC_000009.11:g.131742952C>G	VUS	1 lab	c422d0b5ff
6:42936241 PEX6 G>A	6	42936241	42936241	G	A	PEX6	c.1480-5C>T	NM_000287.3	NP_000278.3:p.?	NC_000006.11:g.42936241G>A	(Likely) benign	1 lab	c42343e94c
6:33410697 SYNGAP1 A>G	6	33410697	33410697	A	G	SYNGAP1	c.2368A>G	NM_006772.2	NP_006763.2:p.(Thr790Ala)	NC_000006.11:g.33410697A>G	VUS	1 lab	c423496193
9:96420434 PHF2 C>A	9	96420434	96420434	C	A	PHF2	c.1155C>A	NM_005392.3	NP_005383.3:p.(His385Gln)	NC_000009.11:g.96420434C>A	VUS	1 lab	c42464fb8e
2:74597797 DCTN1 G>A	2	74597797	74597797	G	A	DCTN1	c.999C>T	NM_004082.4	NP_004073.2:p.(Asp333=)	NC_000002.11:g.74597797G>A	(Likely) benign	1 lab	c425923413
12:56117812 RDH5 G>T	12	56117812	56117812	G	T	RDH5	c.712G>T	NM_001199771.1	NP_001186700.1:p.(Gly238Trp)	NC_000012.11:g.56117812G>T	(Likely) pathogenic	1 lab	c427816216
10:95395246 PDE6C C>T	10	95395246	95395246	C	T	PDE6C	c.1270-8C>T	NM_006204.3	NP_006195.3:p.?	NC_000010.10:g.95395246C>T	(Likely) benign	1 lab	c428321ea5
19:52090402 ZNF175 A>T	19	52090402	52090402	A	T	ZNF175	c.818A>T	NM_007147.4	NP_009078.1:p.(His273Leu)	NC_000019.9:g.52090402A>T	VUS	1 lab	c428e1dec0
17:76991181 CANT1 C>A	17	76991181	76991181	C	A	CANT1	c.754G>T	NM_138793.3	NP_620148.1:p.(Gly252Cys)	NC_000017.10:g.76991181C>A	VUS	1 lab	c429942025
9:2717815 KCNV2 C>T	9	2717815	2717815	C	T	KCNV2	c.76C>T	NM_133497.3	NP_598004.1:p.(His26Tyr)	NC_000009.11:g.2717815C>T	VUS	1 lab	c4299f8f10
10:121431797 BAG3 T>A	10	121431797	121431797	T	A	BAG3	c.538T>A	NM_004281.3	NP_004272.2:p.(Ser180Thr)	NC_000010.10:g.121431797T>A	VUS	1 lab	c4299fa1b3
2:238494751 RAB17 TGGCTGGGGGCAGCCCTG>T	2	238494751	238494777	TGGCTGGGGGCAGCCCTG	T	RAB17	c.30_46del	NM_022449.4	NP_071894.1:p.(Arg11AlafsTer16)	NC_000002.11:g.238494761_238494777del	VUS	1 lab	c42a0c3eed
X:48369755 PORCN T>G	X	48369755	48369755	T	G	PORCN	c.209T>G	NM_203475.2	NP_982301.1:p.(Leu70Arg)	NC_000023.10:g.48369755T>G	(Likely) benign	1 lab	c42a5530b2
1:179100554 ABL2 A>G	1	179100554	179100554	A	G	ABL2	c.283T>C	NM_007314.3	NP_009298.1:p.(Trp95Arg)	NC_000001.10:g.179100554A>G	VUS	1 lab	c42ab5ba2d
2:233621014 GIGYF2 C>T	2	233621014	233621014	C	T	GIGYF2	c.349C>T	NM_015575.3	NP_056390.2:p.(Pro117Ser)	NC_000002.11:g.233621014C>T	VUS	1 lab	c42d0e7b6f
19:9062463 MUC16 G>T	19	9062463	9062463	G	T	MUC16	c.24983C>A	NM_024690.2	NP_078966.2:p.(Thr8328Asn)	NC_000019.9:g.9062463G>T	(Likely) benign	1 lab	c42ec397aa
10:17275822 VIM G>A	10	17275822	17275822	G	A	VIM	c.774G>A	NM_003380.4	NP_003371.2:p.(Val258=)	NC_000010.10:g.17275822G>A	(Likely) benign	1 lab	c431c5b6b7
16:68338047 SLC7A6OS C>G	16	68338047	68338047	C	G	SLC7A6OS	c.560G>C	NM_032178.3	NP_115554.2:p.(Arg187Pro)	NC_000016.9:g.68338047C>G	(Likely) benign	1 lab	c432c6d4a9
15:28273197 OCA2 C>A	15	28273197	28273197	C	A	OCA2	c.335G>T	NM_000275.2	NP_000266.2:p.(Cys112Phe)	NC_000015.9:g.28273197C>A	(Likely) benign	1 lab	c434d87afd
19:50412678 NUP62 G>A	19	50412678	50412678	G	A	NUP62	c.387C>T	NM_016553.4	NP_057637.2:p.(Val129=)	NC_000019.9:g.50412678G>A	(Likely) benign	1 lab	c4396b4719
2:234681032 UGT1A1 G>A	2	234681032	234681032	G	A	UGT1A1	c.1429G>A	NM_000463.2	NP_000454.1:p.(Ala477Thr)	NC_000002.11:g.234681032G>A	VUS	1 lab	c43aade27a
1:16462240 EPHA2 G>GC	1	16462240	16462243	G	GC	EPHA2	c.1337dup	NM_004431.4	NP_004422.2:p.(Arg447ProfsTer7)	NC_000001.10:g.16462243dup	(Likely) pathogenic	1 lab	c43ad3c79e
11:6588633 DNHD1 C>T	11	6588633	6588633	C	T	DNHD1	c.11894C>T	NM_144666.2	NP_653267.2:p.(Pro3965Leu)	NC_000011.9:g.6588633C>T	VUS	1 lab	c43c6f3ded
6:152589223 SYNE1 T>C	6	152589223	152589223	T	C	SYNE1	c.18783A>G	NM_182961.3	NP_892006.3:p.(Gln6261=)	NC_000006.11:g.152589223T>C	(Likely) benign	1 lab	c44093225c
10:123239173 FGFR2 CT>C	10	123239173	123239175	CT	C	FGFR2	c.*197del	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123239175del	VUS	1 lab	c4436cde0d
17:11548020 DNAH9 A>G	17	11548020	11548020	A	G	DNAH9	c.1970+4A>G	NM_001372.3	NP_001363.2:p.?	NC_000017.10:g.11548020A>G	VUS	1 lab	c44400ad6a
16:21698926 OTOA GA>G	16	21698926	21698927	GA	G	OTOA	c.593del	NM_144672.4	NP_653273.3:p.(Glu198GlyfsTer38)	NC_000016.9:g.21698927del	(Likely) pathogenic	1 lab	c444774e01
17:7604140 WRAP53 A>G	17	7604140	7604140	A	G	WRAP53	c.724A>G	NM_018081.2	NP_060551.2:p.(Thr242Ala)	NC_000017.10:g.7604140A>G	VUS	1 lab	c4464e1a52
X:133119409 GPC3 T>C	X	133119409	133119409	T	C	GPC3	c.68A>G	NM_001164617.1	NP_001158089.1:p.(Gln23Arg)	NC_000023.10:g.133119409T>C	(Likely) benign	1 lab	c4478c1ea5
X:67331761 OPHN1 G>A	X	67331761	67331761	G	A	OPHN1	c.1461C>T	NM_002547.2	NP_002538.1:p.(Ser487=)	NC_000023.10:g.67331761G>A	(Likely) benign	1 lab	c4478ec226
3:66293721 MISSING C>G	3	66293721	66293721	C	G	MISSING				NC_000003.11:g.66293721C>G	(Likely) benign	1 lab	c44858b87d
20:45354593 SLC2A10 C>T	20	45354593	45354593	C	T	SLC2A10	c.918C>T	NM_030777.3	NP_110404.1:p.(Leu306=)	NC_000020.10:g.45354593C>T	(Likely) benign	1 lab	c448926ec8
8:55537914 RP1 G>A	8	55537914	55537914	G	A	RP1	c.1472G>A	NM_006269.1	NP_006260.1:p.(Ser491Asn)	NC_000008.10:g.55537914G>A	(Likely) benign	1 lab	c449c707be
14:29236686 FOXG1 G>T	14	29236686	29236686	G	T	FOXG1	c.201G>T	NM_005249.4	NP_005240.3:p.(Pro67=)	NC_000014.8:g.29236686G>T	(Likely) benign	1 lab	c449e81fad
16:11000921 CIITA C>T	16	11000921	11000921	C	T	CIITA	c.1575C>T	NM_001286402.1	NP_001273331.1:p.(Ser525=)	NC_000016.9:g.11000921C>T	(Likely) benign	1 lab	c44a90804d
17:29663463 NF1 C>T	17	29663463	29663463	C	T	NF1	c.6056C>T	NM_000267.3	NP_000258.1:p.(Ser2019Phe)	NC_000017.10:g.29663463C>T	(Likely) pathogenic	1 lab	c44bfb276d
5:156671321 ITK C>A	5	156671321	156671321	C	A	ITK	c.1282C>A	NM_005546.3	NP_005537.3:p.(Gln428Lys)	NC_000005.9:g.156671321C>A	(Likely) benign	1 lab	c44c326994
6:149700178 TAB2 C>T	6	149700178	149700178	C	T	TAB2	c.1127C>T	NM_015093.5	NP_055908.1:p.(Thr376Met)	NC_000006.11:g.149700178C>T	VUS	1 lab	c44c87ad7a
2:32832683 BIRC6 C>T	2	32832683	32832683	C	T	BIRC6	c.14232C>T	NM_016252.3	NP_057336.3:p.(Ile4744=)	NC_000002.11:g.32832683C>T	(Likely) benign	1 lab	c44d690925
6:157470044 ARID1B C>T	6	157470044	157470044	C	T	ARID1B	c.2799C>T	NM_001346813.1	NP_001333742.1:p.(Ala933=)	NC_000006.11:g.157470044C>T	(Likely) benign	1 lab	c44df3b650
1:144823167 MISSING C>T	1	144823167	144823167	C	T	MISSING				NC_000001.10:g.144823167C>T	VUS	1 lab	c4eedd1112
2:27592296 EIF2B4 C>T	2	27592296	27592296	C	T	EIF2B4	c.151G>A	NM_001318966.1	NP_001305895.1:p.(Ala51Thr)	NC_000002.11:g.27592296C>T	(Likely) benign	1 lab	c44ebd63c8
5:52776705 FST G>T	5	52776705	52776705	G	T	FST	c.84G>T	NM_006350.3	NP_006341.1:p.(Gln28His)	NC_000005.9:g.52776705G>T	(Likely) benign	1 lab	c44fddf98d
8:30954282 WRN A>T	8	30954282	30954282	A	T	WRN	c.1899-2A>T	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.30954282A>T	(Likely) pathogenic	1 lab	c450f7a793
1:161479708 FCGR2A A>G	1	161479708	161479708	A	G	FCGR2A	c.463A>G	NM_001136219.1	NP_001129691.1:p.(Thr155Ala)	NC_000001.10:g.161479708A>G	(Likely) benign	1 lab	c4516c5766
10:96798795 CYP2C8 C>T	10	96798795	96798795	C	T	CYP2C8	c.940G>A	NM_001198855.1	NP_001185784.1:p.(Gly314Ser)	NC_000010.10:g.96798795C>T	(Likely) benign	1 lab	c451993c0f
22:19906419 TXNRD2 T>G	22	19906419	19906419	T	G	TXNRD2	c.338A>C	NM_006440.3	NP_006431.2:p.(Tyr113Ser)	NC_000022.10:g.19906419T>G	VUS	1 lab	c452d85283
X:153668457 GDI1 C>T	X	153668457	153668457	C	T	GDI1	c.558C>T	NM_001493.2	NP_001484.1:p.(Gly186=)	NC_000023.10:g.153668457C>T	(Likely) benign	1 lab	c45351e1e2
X:105279319 SERPINA7 A>G	X	105279319	105279319	A	G	SERPINA7	c.680T>C	NM_000354.5	NP_000345.2:p.(Ile227Thr)	NC_000023.10:g.105279319A>G	VUS	1 lab	c454005ea2
19:1465448 APC2 C>G	19	1465448	1465448	C	G	APC2	c.2148C>G	NM_005883.2	NP_005874.1:p.(Pro716=)	NC_000019.9:g.1465448C>G	(Likely) benign	1 lab	c4549200a8
6:167343150 RNASET2 C>T	6	167343150	167343150	C	T	RNASET2				NC_000006.11:g.167343150C>T	(Likely) benign	1 lab	c455981302
1:114450622 DCLRE1B T>C	1	114450622	114450622	T	C	DCLRE1B	c.356-9T>C	NM_022836.4	NP_073747.1:p.?	NC_000001.10:g.114450622T>C	(Likely) benign	1 lab	c4562940da
15:91312662 BLM A>T	15	91312662	91312662	A	T	BLM	c.1282-6A>T	NM_001287248.1	NP_001274177.1:p.?	NC_000015.9:g.91312662A>T	(Likely) benign	1 lab	c457f072b3
3:15683568 BTD A>G	3	15683568	15683568	A	G	BTD	c.459+4A>G	NM_000060.4	NP_000051.1:p.?	NC_000003.11:g.15683568A>G	VUS	1 lab	c45824a898
13:110813661 COL4A1 A>G	13	110813661	110813661	A	G	COL4A1	c.4518T>C	NM_001845.5	NP_001836.3:p.(Asn1506=)	NC_000013.10:g.110813661A>G	(Likely) benign	1 lab	c459035b6e
1:183096434 LAMC1 C>G	1	183096434	183096434	C	G	LAMC1	c.3018C>G	NM_002293.3	NP_002284.3:p.(Gly1006=)	NC_000001.10:g.183096434C>G	(Likely) benign	1 lab	c4596e720a
10:73537647 CDH23 G>A	10	73537647	73537647	G	A	CDH23	c.5056G>A	NM_022124.5	NP_071407.4:p.(Asp1686Asn)	NC_000010.10:g.73537647G>A	(Likely) benign	1 lab	c459804414
21:33756653 URB1 T>G	21	33756653	33756653	T	G	URB1	c.403A>C	NM_014825.3	NP_055640.2:p.(Ile135Leu)	NC_000021.8:g.33756653T>G	(Likely) benign	1 lab	c45a6f4de5
19:9083988 MUC16 T>C	19	9083988	9083988	T	C	MUC16	c.7827A>G	NM_024690.2	NP_078966.2:p.(Ser2609=)	NC_000019.9:g.9083988T>C	(Likely) benign	1 lab	c45da2c3ba
17:8791675 PIK3R5 G>A	17	8791675	8791675	G	A	PIK3R5	c.271C>T	NM_001251851.1	NP_001238780.1:p.(Arg91Cys)	NC_000017.10:g.8791675G>A	VUS	1 lab	c45e2082cc
3:39185201 CSRNP1 G>A	3	39185201	39185201	G	A	CSRNP1	c.1175C>T	NM_001320559.1	NP_001307488.1:p.(Pro392Leu)	NC_000003.11:g.39185201G>A	(Likely) benign	1 lab	c45e3f0072
22:18566506 PEX26 A>G	22	18566506	18566506	A	G	PEX26	c.667+8A>G	NM_001127649.2	NP_001121121.1:p.?	NC_000022.10:g.18566506A>G	(Likely) benign	1 lab	c45ff87d54
21:44478324 CBS C>T	21	44478324	44478324	C	T	CBS	c.1398G>A	NM_000071.2	NP_000062.1:p.(Ser466=)	NC_000021.8:g.44478324C>T	(Likely) benign	1 lab	c46021db89
10:17277158 VIM C>T	10	17277158	17277158	C	T	VIM	c.1009-10C>T	NM_003380.4	NP_003371.2:p.?	NC_000010.10:g.17277158C>T	(Likely) benign	1 lab	c461232fdc
1:43394914 SLC2A1 G>A	1	43394914	43394914	G	A	SLC2A1	c.939C>T	NM_006516.3	NP_006507.2:p.(Ser313=)	NC_000001.10:g.43394914G>A	VUS	1 lab	c46133768f
22:20780475 SCARF2 G>A	22	20780475	20780475	G	A	SCARF2	c.1803C>T	NM_153334.6	NP_699165.3:p.(Ala601=)	NC_000022.10:g.20780475G>A	(Likely) benign	1 lab	c461e11eef
20:33574768 MYH7B T>C	20	33574768	33574768	T	C	MYH7B	c.1110T>C	NM_020884.4	NP_065935.3:p.(Asp370=)	NC_000020.10:g.33574768T>C	(Likely) benign	1 lab	c461f25de7
19:13476121 CACNA1A G>A	19	13476121	13476121	G	A	CACNA1A	c.784+10C>T	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13476121G>A	(Likely) benign	1 lab	c4623be7ab
20:35575133 SAMHD1 A>T	20	35575133	35575133	A	T	SAMHD1	c.275+8T>A	NM_001363729.1	NP_001350658.1:p.?	NC_000020.10:g.35575133A>T	(Likely) benign	1 lab	c4624d7e72
X:147030241 FMR1 T>C	X	147030241	147030241	T	C	FMR1	c.1505T>C	NM_001185075.1	NP_001172004.1:p.(Leu502Pro)	NC_000023.10:g.147030241T>C	VUS	1 lab	c4627fa96a
22:19864689 TXNRD2 A>T	22	19864689	19864689	A	T	TXNRD2	c.1514T>A	NM_006440.3	NP_006431.2:p.(Val505Asp)	NC_000022.10:g.19864689A>T	VUS	1 lab	c462eb52d4
X:18668531 CDKL5 A>G	X	18668531	18668531	A	G	CDKL5	c.2799A>G	NM_003159.2	NP_003150.1:p.(Gly933=)	NC_000023.10:g.18668531A>G	(Likely) benign	1 lab	c4634e8553
6:88240613 RARS2 T>G	6	88240613	88240613	T	G	RARS2	c.660A>C	NM_020320.4	NP_064716.2:p.(Ala220=)	NC_000006.11:g.88240613T>G	(Likely) benign	1 lab	c463c3849d
1:185951498 HMCN1 C>T	1	185951498	185951498	C	T	HMCN1	c.2767C>T	NM_031935.2	NP_114141.2:p.(Arg923Trp)	NC_000001.10:g.185951498C>T	VUS	1 lab	c46419e51c
19:50747509 MYH14 G>T	19	50747509	50747509	G	T	MYH14	c.1125G>T	NM_001145809.1	NP_001139281.1:p.(Arg375=)	NC_000019.9:g.50747509G>T	(Likely) benign	1 lab	c4656b0659
16:2136719 TSC2 C>G	16	2136719	2136719	C	G	TSC2	c.4850-14C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136719C>G	(Likely) benign	1 lab	c4672bba60
13:113055431 SPACA7 G>A	13	113055431	113055431	G	A	SPACA7	c.398G>A	NM_145248.5	NP_660291.2:p.(Arg133His)	NC_000013.10:g.113055431G>A	(Likely) benign	1 lab	c467b9d842
22:29738340 AP1B1 T>C	22	29738340	29738340	T	C	AP1B1	c.1470A>G	NM_001127.3	NP_001118.3:p.(Lys490=)	NC_000022.10:g.29738340T>C	(Likely) benign	1 lab	c46b4a9535
15:62241732 VPS13C C>G	15	62241732	62241732	C	G	VPS13C	c.4669G>C	NM_001018088.2	NP_001018098.1:p.(Ala1557Pro)	NC_000015.9:g.62241732C>G	VUS	1 lab	c46b6b2738
9:135782221 TSC1 T>C	9	135782221	135782221	T	C	TSC1	c.1335A>G	NM_000368.4	NP_000359.1:p.(Glu445=)	NC_000009.11:g.135782221T>C	(Likely) benign	1 lab	c46c59dd83
5:41057461 MROH2B C>T	5	41057461	41057461	C	T	MROH2B	c.758G>A	NM_173489.5	NP_775760.3:p.(Ser253Asn)	NC_000005.9:g.41057461C>T	(Likely) benign	1 lab	c46ff3427c
11:118175719 CD3E G>A	11	118175719	118175719	G	A	CD3E	c.49+3G>A	NM_000733.3	NP_000724.1:p.?	NC_000011.9:g.118175719G>A	(Likely) benign	1 lab	c4725596f1
2:234217803 SAG CCAAGGTGG>C	2	234217803	234217811	CCAAGGTGG	C	SAG	c.-28-4_-25del	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234217804_234217811del	VUS	1 lab	c4749dc6e3
15:34823738 GOLGA8B G>A	15	34823738	34823738	G	A	GOLGA8B	c.395C>T	NM_001023567.4	NP_001018861.3:p.(Thr132Ile)	NC_000015.9:g.34823738G>A	(Likely) benign	1 lab	c475243553
14:70489920 SMOC1 G>T	14	70489920	70489920	G	T	SMOC1	c.1047G>T	NM_001034852.2	NP_001030024.1:p.(Arg349Ser)	NC_000014.8:g.70489920G>T	VUS	1 lab	c47593c7bd
18:47777335 CFAP53 G>A	18	47777335	47777335	G	A	CFAP53	c.789C>T	NM_145020.4	NP_659457.2:p.(Asn263=)	NC_000018.9:g.47777335G>A	(Likely) benign	1 lab	c475d1586d
14:74706513 VSX2 G>A	14	74706513	74706513	G	A	VSX2	c.249G>A	NM_182894.2	NP_878314.1:p.(Gly83=)	NC_000014.8:g.74706513G>A	(Likely) benign	1 lab	c476e7a498
6:109798013 ZBTB24 G>C	6	109798013	109798013	G	C	ZBTB24	c.1073C>G	NM_014797.2	NP_055612.2:p.(Ala358Gly)	NC_000006.11:g.109798013G>C	VUS	1 lab	c478ef15a4
2:179402650 TTN C>A	2	179402650	179402650	C	A	TTN	c.99290-6G>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179402650C>A	(Likely) benign	1 lab	c47a591f47
9:370245 DOCK8 T>C	9	370245	370245	T	C	DOCK8	c.1813T>C	NM_203447.3	NP_982272.2:p.(Ser605Pro)	NC_000009.11:g.370245T>C	VUS	1 lab	c47b3ccab8
2:179319252 PJVK A>C	2	179319252	179319252	A	C	PJVK	c.405A>C	NM_001042702.4	NP_001036167.1:p.(Thr135=)	NC_000002.11:g.179319252A>C	(Likely) benign	1 lab	c47ba5108e
11:68125268 LRP5 C>T	11	68125268	68125268	C	T	LRP5	c.639C>T	NM_002335.3	NP_002326.2:p.(Asp213=)	NC_000011.9:g.68125268C>T	(Likely) benign	1 lab	c47da1f865
2:149633190 KIF5C G>A	2	149633190	149633190	G	A	KIF5C	c.4G>A	NM_004522.3	NP_004513.1:p.(Ala2Thr)	NC_000002.11:g.149633190G>A	(Likely) benign	1 lab	c47fad4fc9
2:109381701 RANBP2 C>T	2	109381701	109381701	C	T	RANBP2	c.4706C>T	NM_006267.4	NP_006258.3:p.(Pro1569Leu)	NC_000002.11:g.109381701C>T	VUS	1 lab	c4815cc5d2
X:153281996 IRAK1 G>A	X	153281996	153281996	G	A	IRAK1	c.1128C>T	NM_001569.3	NP_001560.2:p.(Ser376=)	NC_000023.10:g.153281996G>A	(Likely) benign	1 lab	c482cd1290
19:36215600 KMT2B T>G	19	36215600	36215600	T	G	KMT2B	c.3397T>G	NM_014727.2	NP_055542.1:p.(Leu1133Val)	NC_000019.9:g.36215600T>G	(Likely) benign	1 lab	c483760fc3
15:43900145 STRC C>T	15	43900145	43900145	C	T	STRC	c.3710G>A	NM_153700.2	NP_714544.1:p.(Arg1237Gln)	NC_000015.9:g.43900145C>T	VUS	1 lab	c4839e1c15
2:186618493 FSIP2 A>C	2	186618493	186618493	A	C	FSIP2	c.915A>C	NM_173651.3	NP_775922.3:p.(Lys305Asn)	NC_000002.11:g.186618493A>C	VUS	1 lab	c4856f8d6f
16:87678173 JPH3 A>G	16	87678173	87678173	A	G	JPH3	c.692A>G	NM_020655.3	NP_065706.2:p.(Lys231Arg)	NC_000016.9:g.87678173A>G	VUS	1 lab	c4870ff2ca
6:65300431 EYS A>G	6	65300431	65300431	A	G	EYS	c.5329T>C	NM_001142800.1	NP_001136272.1:p.(Leu1777=)	NC_000006.11:g.65300431A>G	(Likely) benign	1 lab	c487307607
8:103251007 RRM2B G>C	8	103251007	103251007	G	C	RRM2B	c.44C>G	NM_001172477.1	NP_001165948.1:p.(Pro15Arg)	NC_000008.10:g.103251007G>C	VUS	1 lab	c48775aeb6
11:47367858 MYBPC3 TG>T	11	47367858	47367863	TG	T	MYBPC3	c.989del	NM_000256.3	NP_000247.2:p.(Pro330HisfsTer20)	NC_000011.9:g.47367863del	(Likely) pathogenic	1 lab	c48837a60e
12:4398163 CCND2 G>A	12	4398163	4398163	G	A	CCND2	c.720+7G>A	NM_001759.3	NP_001750.1:p.?	NC_000012.11:g.4398163G>A	(Likely) benign	1 lab	c48a584786
19:6702546 C3 G>A	19	6702546	6702546	G	A	C3	c.2290C>T	NM_000064.2	NP_000055.2:p.(Arg764Ter)	NC_000019.9:g.6702546G>A	(Likely) pathogenic	1 lab	c48a60f7d2
1:27426853 SLC9A1 G>C	1	27426853	27426853	G	C	SLC9A1	c.2393C>G	NM_003047.4	NP_003038.2:p.(Pro798Arg)	NC_000001.10:g.27426853G>C	VUS	1 lab	c48d31b275
20:10653442 JAG1 G>C	20	10653442	10653442	G	C	JAG1	c.294C>G	NM_000214.3	NP_000205.1:p.(Ser98=)	NC_000020.10:g.10653442G>C	(Likely) benign	1 lab	c48dd4580b
4:22389387 ADGRA3 C>A	4	22389387	22389387	C	A	ADGRA3	c.3907G>T	NM_145290.3	NP_660333.2:p.(Gly1303Cys)	NC_000004.11:g.22389387C>A	VUS	1 lab	c48fb9cfd7
X:37029450 FAM47C G>C	X	37029450	37029450	G	C	FAM47C	c.2967G>C	NM_001013736.2	NP_001013758.1:p.(Lys989Asn)	NC_000023.10:g.37029450G>C	VUS	1 lab	c490ea04bc
1:236176777 NID1 T>G	1	236176777	236176777	T	G	NID1	c.2338A>C	NM_002508.2	NP_002499.2:p.(Thr780Pro)	NC_000001.10:g.236176777T>G	(Likely) benign	1 lab	c4911f68d5
3:38739215 SCN10A A>G	3	38739215	38739215	A	G	SCN10A	c.5496T>C	NM_006514.3	NP_006505.3:p.(Thr1832=)	NC_000003.11:g.38739215A>G	(Likely) benign	1 lab	c49123a665
4:123663624 BBS12 C>T	4	123663624	123663624	C	T	BBS12	c.577C>T	NM_001178007.1	NP_001171478.1:p.(Pro193Ser)	NC_000004.11:g.123663624C>T	VUS	1 lab	c491f1095c
3:50683197 MAPKAPK3 G>T	3	50683197	50683197	G	T	MAPKAPK3	c.685G>T	NM_001243926.1	NP_001230855.1:p.(Gly229Cys)	NC_000003.11:g.50683197G>T	VUS	1 lab	c492aefdfd
9:137676877 COL5A1 G>C	9	137676877	137676877	G	C	COL5A1	c.2527G>C	NM_000093.4	NP_000084.3:p.(Glu843Gln)	NC_000009.11:g.137676877G>C	VUS	1 lab	c49387c9c4
10:128817097 DOCK1 C>T	10	128817097	128817097	C	T	DOCK1				NC_000010.10:g.128817097C>T	VUS	1 lab	c4944cd81f
19:6495199 TUBB4A C>T	19	6495199	6495199	C	T	TUBB4A	c.1311G>A	NM_006087.4	NP_006078.2:p.(Glu437=)	NC_000019.9:g.6495199C>T	(Likely) benign	1 lab	c495783eab
9:117267036 WHRN C>T	9	117267036	117267036	C	T	WHRN	c.46G>A	NM_015404.3	NP_056219.3:p.(Gly16Ser)	NC_000009.11:g.117267036C>T	VUS	1 lab	c496b594f4
15:44951409 SPG11 G>A	15	44951409	44951409	G	A	SPG11	c.535C>T	NM_025137.3	NP_079413.3:p.(Pro179Ser)	NC_000015.9:g.44951409G>A	(Likely) benign	1 lab	c49809e27b
11:6549852 DNHD1 A>T	11	6549852	6549852	A	T	DNHD1	c.1938A>T	NM_144666.2	NP_653267.2:p.(Gly646=)	NC_000011.9:g.6549852A>T	(Likely) benign	1 lab	c49812c13e
1:63001267 DOCK7 T>C	1	63001267	63001267	T	C	DOCK7	c.3508A>G	NM_001367561.1	NP_001354490.1:p.(Ile1170Val)	NC_000001.10:g.63001267T>C	(Likely) benign	1 lab	c49844d8b4
16:2113072 TSC2 C>T	16	2113072	2113072	C	T	TSC2	c.1443+18C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2113072C>T	(Likely) benign	1 lab	c594f84558
5:73181878 ARHGEF28 C>T	5	73181878	73181878	C	T	ARHGEF28	c.3259C>T	NM_001080479.2	NP_001073948.2:p.(Leu1087=)	NC_000005.9:g.73181878C>T	(Likely) benign	1 lab	c499169cd9
1:16475001 EPHA2 T>C	1	16475001	16475001	T	C	EPHA2	c.695A>G	NM_004431.4	NP_004422.2:p.(Asp232Gly)	NC_000001.10:g.16475001T>C	(Likely) benign	1 lab	c4992e5aec
21:47811272 PCNT C>T	21	47811272	47811272	C	T	PCNT	c.4197C>T	NM_006031.5	NP_006022.3:p.(Asp1399=)	NC_000021.8:g.47811272C>T	(Likely) benign	1 lab	c4996ea6c8
21:47704015 MCM3AP C>T	21	47704015	47704015	C	T	MCM3AP	c.1186G>A	NM_003906.4	NP_003897.2:p.(Glu396Lys)	NC_000021.8:g.47704015C>T	VUS	1 lab	c49976883a
17:78086737 GAA GG>T	17	78086737	78086738	GG	T	GAA	c.1951_1952delinsT	NM_000152.3	NP_000143.2:p.(Gly651SerfsTer45)	NC_000017.10:g.78086737_78086738delinsT	(Likely) pathogenic	1 lab	c49a6b18f4
11:110150416 RDX A>AT	11	110150416	110150420	A	AT	RDX	c.1dup	NM_002906.3	NP_002897.1:p.(Met1?)	NC_000011.9:g.110150420dup	VUS	1 lab	c49aaf5bcb
10:129904927 MKI67 G>C	10	129904927	129904927	G	C	MKI67	c.5177C>G	NM_002417.4	NP_002408.3:p.(Ser1726Ter)	NC_000010.10:g.129904927G>C	VUS	1 lab	c49aea50a8
9:71866149 TJP2 G>T	9	71866149	71866149	G	T	TJP2	c.3190G>T	NM_004817.4	NP_004808.2:p.(Val1064Leu)	NC_000009.11:g.71866149G>T	(Likely) benign	1 lab	c4a049129b
12:91449475 KERA A>G	12	91449475	91449475	A	G	KERA	c.584T>C	NM_007035.3	NP_008966.1:p.(Met195Thr)	NC_000012.11:g.91449475A>G	VUS	1 lab	c4a2d8c65c
7:158711458 DYNC2I1 C>T	7	158711458	158711458	C	T	DYNC2I1	c.1819C>T	NM_018051.4	NP_060521.4:p.(Arg607Cys)	NC_000007.13:g.158711458C>T	VUS	1 lab	c4a327d83b
17:29588851 NF1 C>G	17	29588851	29588851	C	G	NF1	c.4637C>G	NM_000267.3	NP_000258.1:p.(Ser1546Ter)	NC_000017.10:g.29588851C>G	(Likely) pathogenic	1 lab	c4a75dcd93
9:124062250 GSN G>A	9	124062250	124062250	G	A	GSN	c.111G>A	NM_000177.4	NP_000168.1:p.(Ala37=)	NC_000009.11:g.124062250G>A	(Likely) benign	1 lab	c4a7af9d66
17:76471826 DNAH17 G>A	17	76471826	76471826	G	A	DNAH17	c.8244C>T	NM_173628.3	NP_775899.3:p.(Thr2748=)	NC_000017.10:g.76471826G>A	(Likely) benign	1 lab	c4a81a548b
8:41548021 ANK1 G>A	8	41548021	41548021	G	A	ANK1	c.4078C>T	NM_001142446.1	NP_001135918.1:p.(Arg1360Trp)	NC_000008.10:g.41548021G>A	VUS	1 lab	c4aa743c47
1:116243912 CASQ2 T>TATC	1	116243912	116243930	T	TATC	CASQ2	c.1147_1149dup	NM_001232.3	NP_001223.2:p.(Asp383dup)	NC_000001.10:g.116243928_116243930dup	VUS	1 lab	c4ad336fc9
X:152585273 PNMA6F G>A	X	152585273	152585273	G	A	PNMA6F	c.860C>T	NM_001354980.1	NP_001341909.1:p.(Ser287Leu)	NC_000023.10:g.152585273G>A	VUS	1 lab	c4b06fb6b6
6:42932875 PEX6 C>T	6	42932875	42932875	C	T	PEX6	c.2604G>A	NM_000287.3	NP_000278.3:p.(Val868=)	NC_000006.11:g.42932875C>T	(Likely) benign	1 lab	c4b1bc569b
2:128046346 ERCC3 A>G	2	128046346	128046346	A	G	ERCC3	c.725T>C	NM_001303418.1	NP_001290347.1:p.(Ile242Thr)	NC_000002.11:g.128046346A>G	VUS	1 lab	c4b4f09782
17:29298362 RNF135 G>T	17	29298362	29298362	G	T	RNF135	c.271G>T	NM_001184992.1	NP_001171921.1:p.(Glu91Ter)	NC_000017.10:g.29298362G>T	VUS	1 lab	c4b57aeb31
2:179640947 TTN G>A	2	179640947	179640947	G	A	TTN	c.5644C>T	NM_001267550.1	NP_001254479.1:p.(Arg1882Cys)	NC_000002.11:g.179640947G>A	VUS	1 lab	c4b8a190a7
17:26733077 SLC46A1 A>AC	17	26733077	26733078	A	AC	SLC46A1	c.55dup	NM_080669.3	NP_542400.2:p.(Val19GlyfsTer146)	NC_000017.10:g.26733078dup	(Likely) pathogenic	1 lab	c4b8b9764c
16:2166545 PKD1 C>T	16	2166545	2166545	C	T	PKD1	c.1707G>A	NM_001009944.2	NP_001009944.2:p.(Pro569=)	NC_000016.9:g.2166545C>T	(Likely) benign	1 lab	c4b8edf3a3
19:54403481 PRKCG C>T	19	54403481	54403481	C	T	PRKCG	c.1282-6C>T	NM_002739.3	NP_002730.1:p.?	NC_000019.9:g.54403481C>T	(Likely) benign	1 lab	c4ba2ce99c
X:130220356 ARHGAP36 G>A	X	130220356	130220356	G	A	ARHGAP36	c.1335G>A	NM_144967.4	NP_659404.2:p.(Pro445=)	NC_000023.10:g.130220356G>A	(Likely) benign	1 lab	c4bdfda6cb
5:66462037 MAST4 A>G	5	66462037	66462037	A	G	MAST4	c.7030A>G	NM_001164664.1	NP_001158136.1:p.(Thr2344Ala)	NC_000005.9:g.66462037A>G	(Likely) benign	1 lab	c4be840c7b
14:77796707 GSTZ1 G>T	14	77796707	77796707	G	T	GSTZ1	c.359+5G>T	NM_001312660.1	NP_001299589.1:p.?	NC_000014.8:g.77796707G>T	(Likely) benign	1 lab	c4beae09d8
11:47365036 MYBPC3 G>T	11	47365036	47365036	G	T	MYBPC3	c.1223+7C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365036G>T	(Likely) benign	1 lab	c4bfaa3554
10:73553215 CDH23 C>T	10	73553215	73553215	C	T	CDH23	c.6530C>T	NM_022124.5	NP_071407.4:p.(Pro2177Leu)	NC_000010.10:g.73553215C>T	VUS	1 lab	c4c01a97f3
14:91779885 CCDC88C G>A	14	91779885	91779885	G	A	CCDC88C	c.2275C>T	NM_001080414.3	NP_001073883.2:p.(Leu759Phe)	NC_000014.8:g.91779885G>A	VUS	1 lab	c4c048b748
4:47538717 ATP10D TTCTCTC>T	4	47538717	47538724	TTCTCTC	T	ATP10D	c.1160_1165del	NM_020453.4	NP_065186.3:p.(Ser387_Leu388del)	NC_000004.11:g.47538719_47538724del	VUS	1 lab	c4c14e0556
16:2354042 ABCA3 C>T	16	2354042	2354042	C	T	ABCA3	c.1395G>A	NM_001089.2	NP_001080.2:p.(Leu465=)	NC_000016.9:g.2354042C>T	(Likely) benign	1 lab	c4c1e124fe
17:42992474 GFAP G>A	17	42992474	42992474	G	A	GFAP	c.381C>T	NM_001363846.1	NP_001350775.1:p.(Leu127=)	NC_000017.10:g.42992474G>A	(Likely) benign	1 lab	c4c415fff9
6:152485375 SYNE1 C>T	6	152485375	152485375	C	T	SYNE1	c.23713G>A	NM_182961.3	NP_892006.3:p.(Glu7905Lys)	NC_000006.11:g.152485375C>T	VUS	1 lab	c4c49d24f0
17:42254306 ASB16 C>G	17	42254306	42254306	C	G	ASB16	c.770C>G	NM_080863.4	NP_543139.4:p.(Pro257Arg)	NC_000017.10:g.42254306C>G	VUS	1 lab	c4c4ca438a
1:17322477 ATP13A2 G>A	1	17322477	17322477	G	A	ATP13A2	c.1521C>T	NM_001141973.2	NP_001135445.1:p.(Phe507=)	NC_000001.10:g.17322477G>A	(Likely) benign	1 lab	c4c530c5d7
12:113355426 OAS1 C>T	12	113355426	113355426	C	T	OAS1	c.959C>T	NM_016816.3	NP_058132.2:p.(Ala320Val)	NC_000012.11:g.113355426C>T	VUS	1 lab	c4c5491eb1
19:42791350 CIC A>G	19	42791350	42791350	A	G	CIC	c.3137A>G	NM_001304815.1	NP_001291744.1:p.(Glu1046Gly)	NC_000019.9:g.42791350A>G	(Likely) benign	1 lab	c4c5a1e3e2
9:140777324 CACNA1B C>T	9	140777324	140777324	C	T	CACNA1B	c.519C>T	NM_000718.3	NP_000709.1:p.(Val173=)	NC_000009.11:g.140777324C>T	(Likely) benign	1 lab	c4c629257f
X:96139877 RPA4 G>T	X	96139877	96139877	G	T	RPA4	c.568G>T	NM_013347.4	NP_037479.1:p.(Ala190Ser)	NC_000023.10:g.96139877G>T	(Likely) benign	1 lab	c4c6f44746
12:99093210 APAF1 G>A	12	99093210	99093210	G	A	APAF1	c.2329G>A	NM_181861.1	NP_863651.1:p.(Glu777Lys)	NC_000012.11:g.99093210G>A	VUS	1 lab	c4c70c6ad5
20:10627701 JAG1 C>T	20	10627701	10627701	C	T	JAG1	c.1771G>A	NM_000214.3	NP_000205.1:p.(Val591Met)	NC_000020.10:g.10627701C>T	VUS	1 lab	c4ccd0af44
1:215812563 USH2A T>A	1	215812563	215812563	T	A	USH2A	c.14986A>T	NM_206933.2	NP_996816.2:p.(Ile4996Phe)	NC_000001.10:g.215812563T>A	VUS	1 lab	c4ce017fd9
20:57415218 GNAS C>T	20	57415218	57415218	C	T	GNAS	c.57C>T	NM_016592.3	NP_057676.1:p.(Asp19=)	NC_000020.10:g.57415218C>T	(Likely) benign	1 lab	c4ce0abd84
18:39584508 PIK3C3 G>A	18	39584508	39584508	G	A	PIK3C3	c.1170+3G>A	NM_002647.4	NP_002638.2:p.?	NC_000018.9:g.39584508G>A	(Likely) benign	1 lab	c4d1ad8a23
11:134131161 ACAD8 C>G	11	134131161	134131161	C	G	ACAD8	c.842-8C>G	NM_014384.2	NP_055199.1:p.?	NC_000011.9:g.134131161C>G	(Likely) benign	1 lab	c4d43e7d37
20:62103613 KCNQ2 G>T	20	62103613	62103613	G	T	KCNQ2	c.204C>A	NM_172107.3	NP_742105.1:p.(Pro68=)	NC_000020.10:g.62103613G>T	(Likely) benign	1 lab	c4d647af5b
X:76938631 ATRX C>G	X	76938631	76938631	C	G	ATRX	c.2117G>C	NM_000489.5	NP_000480.3:p.(Ser706Thr)	NC_000023.10:g.76938631C>G	(Likely) benign	1 lab	c4d6928f6e
16:2125935 TSC2 C>T	16	2125935	2125935	C	T	TSC2	c.2639+42C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125935C>T	(Likely) benign	1 lab	c4d83d9634
14:65241180 SPTB G>A	14	65241180	65241180	G	A	SPTB	c.4908C>T	NM_001024858.3	NP_001020029.1:p.(Tyr1636=)	NC_000014.8:g.65241180G>A	(Likely) benign	1 lab	c4d8ac5516
22:21088806 PI4KA C>T	22	21088806	21088806	C	T	PI4KA	c.3777G>A	NM_058004.3	NP_477352.3:p.(Thr1259=)	NC_000022.10:g.21088806C>T	(Likely) benign	1 lab	c4d919564d
11:6646466 DCHS1 T>C	11	6646466	6646466	T	C	DCHS1				NC_000011.9:g.6646466T>C	VUS	1 lab	c4d9ddfa5d
8:100831768 VPS13B C>T	8	100831768	100831768	C	T	VPS13B	c.8825C>T	NM_017890.4	NP_060360.3:p.(Ser2942Leu)	NC_000008.10:g.100831768C>T	(Likely) benign	1 lab	c4da8827a0
7:116436110 MET T>C	7	116436110	116436110	T	C	MET	c.4159T>C	NM_001127500.1	NP_001120972.1:p.(Leu1387=)	NC_000007.13:g.116436110T>C	(Likely) benign	1 lab	c4da9c4892
21:47805792 PCNT C>T	21	47805792	47805792	C	T	PCNT	c.3358C>T	NM_006031.5	NP_006022.3:p.(Arg1120Cys)	NC_000021.8:g.47805792C>T	VUS	1 lab	c4dbeee0b0
21:46929433 COL18A1 C>T	21	46929433	46929433	C	T	COL18A1	c.3404C>T	NM_130445.2	NP_569712.2:p.(Pro1135Leu)	NC_000021.8:g.46929433C>T	VUS	1 lab	c4dbfcf82b
7:66459274 SBDS A>G	7	66459274	66459274	A	G	SBDS	c.183T>C	NM_016038.2	NP_057122.2:p.(Ser61=)	NC_000007.13:g.66459274A>G	(Likely) pathogenic	1 lab	c4dc2d1ac6
4:103592514 MANBA T>C	4	103592514	103592514	T	C	MANBA	c.1154A>G	NM_005908.3	NP_005899.3:p.(Asn385Ser)	NC_000004.11:g.103592514T>C	VUS	1 lab	c4dcb902c5
12:102117558 CHPT1 G>T	12	102117558	102117558	G	T	CHPT1	c.998G>T	NM_020244.3	NP_064629.2:p.(Gly333Val)	NC_000012.11:g.102117558G>T	VUS	1 lab	c4ddaa83be
14:77493857 IRF2BPL TGCCGCCGCC>T	14	77493857	77493874	TGCCGCCGCC	T	IRF2BPL	c.270_278del	NM_024496.4	NP_078772.1:p.(Ala100_Ala102del)	NC_000014.8:g.77493866_77493874del	VUS	1 lab	c4ddaf6420
12:53663634 ESPL1 T>C	12	53663634	53663634	T	C	ESPL1	c.908T>C	NM_012291.4	NP_036423.4:p.(Val303Ala)	NC_000012.11:g.53663634T>C	(Likely) benign	1 lab	c4de09bf17
3:10089614 FANCD2 T>C	3	10089614	10089614	T	C	FANCD2	c.1292T>C	NM_033084.3	NP_149075.2:p.(Met431Thr)	NC_000003.11:g.10089614T>C	(Likely) benign	1 lab	c4df990aa9
5:176721770 NSD1 G>A	5	176721770	176721770	G	A	NSD1	c.7401G>A	NM_022455.4	NP_071900.2:p.(Glu2467=)	NC_000005.9:g.176721770G>A	(Likely) benign	1 lab	c4e0d61561
16:53656135 RPGRIP1L G>C	16	53656135	53656135	G	C	RPGRIP1L	c.3428C>G	NM_015272.4	NP_056087.2:p.(Thr1143Ser)	NC_000016.9:g.53656135G>C	(Likely) benign	1 lab	c4e5d9123b
1:3347514 PRDM16 G>GGAC	1	3347514	3347522	G	GGAC	PRDM16	c.3369_3371dup	NM_022114.3	NP_071397.3:p.(Asp1125dup)	NC_000001.10:g.3347520_3347522dup	(Likely) benign	1 lab	c4e7a42de6
2:197711819 PGAP1 G>A	2	197711819	197711819	G	A	PGAP1	c.1536C>T	NM_001321099.1	NP_001308028.1:p.(Leu512=)	NC_000002.11:g.197711819G>A	(Likely) benign	1 lab	c4e8db0048
10:75104950 CFAP70 G>T	10	75104950	75104950	G	T	CFAP70	c.482C>A	NM_001367801.1	NP_001354730.1:p.(Ala161Asp)	NC_000010.10:g.75104950G>T	VUS	1 lab	c4eb180dc2
14:75469698 EIF2B2 C>T	14	75469698	75469698	C	T	EIF2B2	c.5C>T	NM_014239.3	NP_055054.1:p.(Pro2Leu)	NC_000014.8:g.75469698C>T	VUS	1 lab	c4ebb52b92
4:39217617 WDR19 C>G	4	39217617	39217617	C	G	WDR19	c.1118C>G	NM_025132.3	NP_079408.3:p.(Ala373Gly)	NC_000004.11:g.39217617C>G	(Likely) benign	1 lab	c4ee3c1168
1:45800128 MUTYH GC>G	1	45800128	45800129	GC	G	MUTYH	c.49del	NM_001048174.2	NP_001041639.1:p.(Ala17ProfsTer46)	NC_000001.10:g.45800129del	(Likely) pathogenic	1 lab	c4ef995a19
6:32029396 TNXB G>T	6	32029396	32029396	G	T	TNXB	c.7270C>A	NM_019105.6	NP_061978.6:p.(Pro2424Thr)	NC_000006.11:g.32029396G>T	VUS	1 lab	c4f0a03052
12:15793685 EPS8 T>C	12	15793685	15793685	T	C	EPS8	c.1773A>G	NM_004447.5	NP_004438.3:p.(Pro591=)	NC_000012.11:g.15793685T>C	(Likely) benign	1 lab	c4f307838e
1:115455688 SYCP1 A>G	1	115455688	115455688	A	G	SYCP1	c.1564A>G	NM_001282541.1	NP_001269470.1:p.(Lys522Glu)	NC_000001.10:g.115455688A>G	VUS	1 lab	c4f3ecf954
2:179444508 TTN C>G	2	179444508	179444508	C	G	TTN	c.67416G>C	NM_001267550.1	NP_001254479.1:p.(Trp22472Cys)	NC_000002.11:g.179444508C>G	VUS	1 lab	c4f4649c5e
19:10468549 TYK2 C>T	19	10468549	10468549	C	T	TYK2	c.2357G>A	NM_003331.4	NP_003322.3:p.(Gly786Asp)	NC_000019.9:g.10468549C>T	(Likely) benign	1 lab	c4f4db0a91
X:54037709 PHF8 C>T	X	54037709	54037709	C	T	PHF8	c.792G>A	NM_015107.2	NP_055922.1:p.(Lys264=)	NC_000023.10:g.54037709C>T	(Likely) benign	1 lab	c4f8476f4f
2:121729540 GLI2 C>T	2	121729540	121729540	C	T	GLI2	c.1083C>T	NM_005270.4	NP_005261.2:p.(Ala361=)	NC_000002.11:g.121729540C>T	(Likely) benign	1 lab	c4f92af36b
5:122725693 CEP120 G>A	5	122725693	122725693	G	A	CEP120	c.1180C>T	NM_153223.3	NP_694955.2:p.(Pro394Ser)	NC_000005.9:g.122725693G>A	VUS	1 lab	c4f94b9b8d
6:144759933 UTRN G>A	6	144759933	144759933	G	A	UTRN	c.1294G>A	NM_007124.2	NP_009055.2:p.(Ala432Thr)	NC_000006.11:g.144759933G>A	VUS	1 lab	c4fb0849cd
14:102483246 DYNC1H1 C>T	14	102483246	102483246	C	T	DYNC1H1	c.7758C>T	NM_001376.4	NP_001367.2:p.(Ala2586=)	NC_000014.8:g.102483246C>T	(Likely) benign	1 lab	c4fb2c6548
14:105417303 AHNAK2 C>A	14	105417303	105417303	C	A	AHNAK2	c.4485G>T	NM_138420.3	NP_612429.2:p.(Met1495Ile)	NC_000014.8:g.105417303C>A	(Likely) benign	1 lab	c4fb97189a
2:202082452 CASP10 A>G	2	202082452	202082452	A	G	CASP10	c.1557A>G	NM_032977.3	NP_116759.2:p.(Ala519=)	NC_000002.11:g.202082452A>G	(Likely) benign	1 lab	c4fc1cd568
1:11024212 CIROZ G>A	1	11024212	11024212	G	A	CIROZ	c.489C>T	NM_001170754.1	NP_001164225.1:p.(Ser163=)	NC_000001.10:g.11024212G>A	(Likely) benign	1 lab	c4fc8f5cbc
X:50370640 SHROOM4 T>C	X	50370640	50370640	T	C	SHROOM4	c.2931A>G	NM_020717.3	NP_065768.2:p.(Gly977=)	NC_000023.10:g.50370640T>C	(Likely) benign	1 lab	c4fca7d6db
12:11546622 PRB2 T>A	12	11546622	11546622	T	A	PRB2	c.390A>T	NM_006248.4	NP_006239.3:p.(Gln130His)	NC_000012.11:g.11546622T>A	(Likely) benign	1 lab	c4fcbdf042
11:57573454 CTNND1 C>G	11	57573454	57573454	C	G	CTNND1	c.1823C>G	NM_001085458.1	NP_001078927.1:p.(Ala608Gly)	NC_000011.9:g.57573454C>G	(Likely) benign	1 lab	c4fcf5ef55
5:90046412 ADGRV1 A>G	5	90046412	90046412	A	G	ADGRV1	c.11019A>G	NM_032119.4	NP_115495.3:p.(Leu3673=)	NC_000005.9:g.90046412A>G	(Likely) benign	1 lab	c4fcff2de5
19:7695706 PET100 C>G	19	7695706	7695706	C	G	PET100	c.115-3C>G	NM_001171155.1	NP_001164626.1:p.?	NC_000019.9:g.7695706C>G	VUS	1 lab	c4ff4cbc9c
20:57769003 ZNF831 G>T	20	57769003	57769003	G	T	ZNF831	c.2929G>T	NM_178457.2	NP_848552.1:p.(Ala977Ser)	NC_000020.10:g.57769003G>T	(Likely) benign	1 lab	c4ffa0c057
19:36592143 WDR62 C>T	19	36592143	36592143	C	T	WDR62	c.2895C>T	NM_001083961.1	NP_001077430.1:p.(Ala965=)	NC_000019.9:g.36592143C>T	(Likely) benign	1 lab	c500711a19
X:50654006 BMP15 C>T	X	50654006	50654006	C	T	BMP15	c.223C>T	NM_005448.2	NP_005439.2:p.(Arg75Trp)	NC_000023.10:g.50654006C>T	VUS	1 lab	c5008d627b
17:29496908 NF1 G>A	17	29496908	29496908	G	A	NF1	c.480-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29496908G>A	(Likely) pathogenic	1 lab	c50438619a
3:142278244 ATR TTTC>T	3	142278244	142278252	TTTC	T	ATR	c.1578_1580del	NM_001184.4	NP_001175.2:p.(Lys527del)	NC_000003.11:g.142278250_142278252del	VUS	1 lab	c5050e7aa5
16:88791471 PIEZO1 C>A	16	88791471	88791471	C	A	PIEZO1	c.4180G>T	NM_001142864.4	NP_001136336.2:p.(Gly1394Cys)	NC_000016.9:g.88791471C>A	VUS	1 lab	c50536f9f0
1:228474686 OBSCN C>T	1	228474686	228474686	C	T	OBSCN	c.10777C>T	NM_001271223.2	NP_001258152.2:p.(Arg3593Cys)	NC_000001.10:g.228474686C>T	(Likely) benign	1 lab	c5056ba376
17:40767022 TUBG1 G>A	17	40767022	40767022	G	A	TUBG1	c.1319G>A	NM_001070.4	NP_001061.2:p.(Arg440Gln)	NC_000017.10:g.40767022G>A	(Likely) benign	1 lab	c506247092
1:215848243 USH2A G>A	1	215848243	215848243	G	A	USH2A	c.13010C>T	NM_206933.2	NP_996816.2:p.(Thr4337Met)	NC_000001.10:g.215848243G>A	VUS	1 lab	c506c00255
1:152284377 FLG G>A	1	152284377	152284377	G	A	FLG	c.2985C>T	NM_002016.1	NP_002007.1:p.(His995=)	NC_000001.10:g.152284377G>A	(Likely) benign	1 lab	c5086da67c
1:215821872 USH2A G>A	1	215821872	215821872	G	A	USH2A	c.14580C>T	NM_206933.2	NP_996816.2:p.(His4860=)	NC_000001.10:g.215821872G>A	VUS	1 lab	c50cc71cc3
12:51126196 DIP2B G>A	12	51126196	51126196	G	A	DIP2B	c.3858G>A	NM_173602.2	NP_775873.2:p.(Ala1286=)	NC_000012.11:g.51126196G>A	(Likely) benign	1 lab	c50ce8c30a
11:65393519 PCNX3 G>A	11	65393519	65393519	G	A	PCNX3	c.3373G>A	NM_032223.3	NP_115599.2:p.(Val1125Met)	NC_000011.9:g.65393519G>A	VUS	1 lab	c50dbd1363
5:13717471 DNAH5 T>C	5	13717471	13717471	T	C	DNAH5	c.12658A>G	NM_001369.2	NP_001360.1:p.(Thr4220Ala)	NC_000005.9:g.13717471T>C	(Likely) benign	1 lab	c50dc17a6d
17:76528557 DNAH17 C>T	17	76528557	76528557	C	T	DNAH17	c.3114+7G>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76528557C>T	(Likely) benign	1 lab	c50ef4dbc0
8:144992674 PLEC C>T	8	144992674	144992674	C	T	PLEC	c.11726G>A	NM_201380.3	NP_958782.1:p.(Arg3909His)	NC_000008.10:g.144992674C>T	(Likely) benign	1 lab	c510ea458e
3:25677417 TOP2B G>C	3	25677417	25677417	G	C	TOP2B	c.852+10C>G	NM_001330700.1	NP_001317629.1:p.?	NC_000003.11:g.25677417G>C	(Likely) benign	1 lab	c5110c0e3b
6:39881098 MOCS1 G>C	6	39881098	39881098	G	C	MOCS1	c.720C>G	NM_005943.5	NP_005934.2:p.(Pro240=)	NC_000006.11:g.39881098G>C	(Likely) benign	1 lab	c5128e50e5
10:78637657 KCNMA1 G>T	10	78637657	78637657	G	T	KCNMA1	c.3525-6C>A	NM_001014797.2	NP_001014797.1:p.?	NC_000010.10:g.78637657G>T	(Likely) benign	1 lab	c512fb4ea5
12:49443486 KMT2D T>G	12	49443486	49443486	T	G	KMT2D	c.3885A>C	NM_003482.3	NP_003473.3:p.(Pro1295=)	NC_000012.11:g.49443486T>G	(Likely) benign	1 lab	c51312c977
9:98669353 ERCC6L2 G>A	9	98669353	98669353	G	A	ERCC6L2	c.628-7G>A	NM_020207.4	NP_064592.2:p.?	NC_000009.11:g.98669353G>A	(Likely) benign	1 lab	c515f165f9
5:172750330 STC2 G>A	5	172750330	172750330	G	A	STC2	c.398C>T	NM_003714.2	NP_003705.1:p.(Ser133Phe)	NC_000005.9:g.172750330G>A	(Likely) benign	1 lab	c5173b8e1d
20:31374337 DNMT3B C>T	20	31374337	31374337	C	T	DNMT3B	c.336C>T	NM_006892.3	NP_008823.1:p.(Ser112=)	NC_000020.10:g.31374337C>T	(Likely) benign	1 lab	c517d559a1
7:82582699 PCLO G>A	7	82582699	82582699	G	A	PCLO	c.7570C>T	NM_033026.5	NP_149015.2:p.(Gln2524Ter)	NC_000007.13:g.82582699G>A	VUS	1 lab	c517fe45d8
5:131977978 RAD50 C>T	5	131977978	131977978	C	T	RAD50	c.3861C>T	NM_005732.3	NP_005723.2:p.(Tyr1287=)	NC_000005.9:g.131977978C>T	(Likely) benign	1 lab	c51b0e606e
9:100437768 XPA T>TA	9	100437768	100437769	T	TA	XPA	c.774dup	NM_000380.3	NP_000371.1:p.(Lys259Ter)	NC_000009.11:g.100437769dup	(Likely) pathogenic	1 lab	c51b944c61
3:4712517 ITPR1 G>C	3	4712517	4712517	G	C	ITPR1	c.2066G>C	NM_001168272.1	NP_001161744.1:p.(Ser689Thr)	NC_000003.11:g.4712517G>C	(Likely) benign	1 lab	c51d50c0cc
19:54655963 CNOT3 G>A	19	54655963	54655963	G	A	CNOT3	c.1606G>A	NM_014516.4	NP_055331.1:p.(Ala536Thr)	NC_000019.9:g.54655963G>A	(Likely) benign	1 lab	c51eeea282
14:76964643 ESRRB C>T	14	76964643	76964643	C	T	ESRRB	c.1144C>T	NM_004452.3	NP_004443.3:p.(Arg382Cys)	NC_000014.8:g.76964643C>T	VUS	1 lab	c51efa661e
20:400228 RBCK1 C>T	20	400228	400228	C	T	RBCK1	c.260C>T	NM_001323956.1	NP_001310885.1:p.(Pro87Leu)	NC_000020.10:g.400228C>T	VUS	1 lab	c52000f730
X:103041398 PLP1 C>A	X	103041398	103041398	C	A	PLP1	c.196C>A	NM_001128834.2	NP_001122306.1:p.(His66Asn)	NC_000023.10:g.103041398C>A	(Likely) benign	1 lab	c52027d7c4
9:140652364 EHMT1 G>A	9	140652364	140652364	G	A	EHMT1	c.1402G>A	NM_024757.4	NP_079033.4:p.(Ala468Thr)	NC_000009.11:g.140652364G>A	(Likely) benign	1 lab	c522a62f1f
12:40671735 LRRK2 T>C	12	40671735	40671735	T	C	LRRK2	c.1987T>C	NM_198578.3	NP_940980.3:p.(Ser663Pro)	NC_000012.11:g.40671735T>C	(Likely) benign	1 lab	c522e61f8d
5:39002687 RICTOR G>A	5	39002687	39002687	G	A	RICTOR	c.342C>T	NM_001285439.1	NP_001272368.1:p.(Ser114=)	NC_000005.9:g.39002687G>A	(Likely) benign	1 lab	c523edc141
3:49760483 GMPPB G>A	3	49760483	49760483	G	A	GMPPB	c.324C>T	NM_013334.3	NP_037466.2:p.(Asn108=)	NC_000003.11:g.49760483G>A	(Likely) benign	1 lab	c52400f2a5
14:24886226 NYNRIN G>A	14	24886226	24886226	G	A	NYNRIN	c.5271G>A	NM_025081.3	NP_079357.2:p.(Pro1757=)	NC_000014.8:g.24886226G>A	(Likely) benign	1 lab	c52461cde7
X:119708408 CUL4B C>T	X	119708408	119708408	C	T	CUL4B	c.65G>A	NM_003588.3	NP_003579.3:p.(Gly22Asp)	NC_000023.10:g.119708408C>T	(Likely) benign	1 lab	c52605b079
6:76576804 MYO6 C>T	6	76576804	76576804	C	T	MYO6	c.1926C>T	NM_004999.3	NP_004990.3:p.(Ser642=)	NC_000006.11:g.76576804C>T	(Likely) benign	1 lab	c528630e1b
8:144811384 SACK1H G>A	8	144811384	144811384	G	A	SACK1H	c.557C>T	NM_198488.3	NP_940890.3:p.(Ala186Val)	NC_000008.10:g.144811384G>A	VUS	1 lab	c52a03d438
1:197069805 ASPM T>C	1	197069805	197069805	T	C	ASPM	c.8576A>G	NM_018136.4	NP_060606.3:p.(Gln2859Arg)	NC_000001.10:g.197069805T>C	(Likely) benign	1 lab	c52c163a02
1:981563 AGRN A>G	1	981563	981563	A	G	AGRN	c.2829A>G	NM_001305275.2	NP_001292204.1:p.(Thr943=)	NC_000001.10:g.981563A>G	VUS	1 lab	c52fb19147
2:179416636 TTN G>A	2	179416636	179416636	G	A	TTN	c.90991C>T	NM_001267550.1	NP_001254479.1:p.(Pro30331Ser)	NC_000002.11:g.179416636G>A	VUS	1 lab	c5332739e6
18:32712026 MAPRE2 G>A	18	32712026	32712026	G	A	MAPRE2	c.745G>A	NM_001143827.2	NP_001137299.1:p.(Val249Met)	NC_000018.9:g.32712026G>A	(Likely) benign	1 lab	c534fa7559
1:215848642 USH2A G>A	1	215848642	215848642	G	A	USH2A	c.12611C>T	NM_206933.2	NP_996816.2:p.(Thr4204Met)	NC_000001.10:g.215848642G>A	(Likely) benign	1 lab	c53808485a
X:20194390 RPS6KA3 C>T	X	20194390	20194390	C	T	RPS6KA3	c.1080G>A	NM_004586.2	NP_004577.1:p.(Glu360=)	NC_000023.10:g.20194390C>T	(Likely) benign	1 lab	c53813458d
21:47754549 PCNT G>A	21	47754549	47754549	G	A	PCNT	c.506G>A	NM_006031.5	NP_006022.3:p.(Arg169His)	NC_000021.8:g.47754549G>A	(Likely) benign	1 lab	c53877821f
5:64267555 CWC27 T>C	5	64267555	64267555	T	C	CWC27	c.1068T>C	NM_005869.4	NP_005860.2:p.(Ala356=)	NC_000005.9:g.64267555T>C	(Likely) benign	1 lab	c5389a49ff
18:74668044 ZNF236 T>A	18	74668044	74668044	T	A	ZNF236	c.5012T>A	NM_007345.3	NP_031371.3:p.(Val1671Glu)	NC_000018.9:g.74668044T>A	(Likely) benign	1 lab	c538a5c82d
X:99662522 PCDH19 G>A	X	99662522	99662522	G	A	PCDH19	c.1074C>T	NM_001184880.1	NP_001171809.1:p.(Val358=)	NC_000023.10:g.99662522G>A	(Likely) benign	1 lab	c53a5e9e99
19:10244364 DNMT1 C>T	19	10244364	10244364	C	T	DNMT1	c.4830G>A	NM_001379.3	NP_001370.1:p.(Glu1610=)	NC_000019.9:g.10244364C>T	(Likely) benign	1 lab	c53b332171
X:53106875 GPR173 T>C	X	53106875	53106875	T	C	GPR173	c.1072T>C	NM_018969.5	NP_061842.1:p.(Trp358Arg)	NC_000023.10:g.53106875T>C	VUS	1 lab	c53e644302
10:50724013 ERCC6 A>G	10	50724013	50724013	A	G	ERCC6	c.2552T>C	NM_001277058.1	NP_001263987.1:p.(Val851Ala)	NC_000010.10:g.50724013A>G	(Likely) benign	1 lab	c53f0b0c79
21:47847638 PCNT C>T	21	47847638	47847638	C	T	PCNT	c.7423C>T	NM_006031.5	NP_006022.3:p.(Arg2475Ter)	NC_000021.8:g.47847638C>T	(Likely) pathogenic	1 lab	c54078b8ee
6:42072819 C6orf132 A>G	6	42072819	42072819	A	G	C6orf132	c.2831T>C	NM_001164446.3	NP_001157918.1:p.(Val944Ala)	NC_000006.11:g.42072819A>G	(Likely) benign	1 lab	c540e3a69e
2:87213686 RGPD1 G>A	2	87213686	87213686	G	A	RGPD1	c.3640G>A	NM_001024457.3	NP_001019628.3:p.(Gly1214Ser)	NC_000002.11:g.87213686G>A	(Likely) benign	1 lab	c542dba2a6
16:2134951 TSC2 G>GT	16	2134951	2134954	G	GT	TSC2	c.4496dup	NM_000548.3	NP_000539.2:p.(Val1500ArgfsTer24)	NC_000016.9:g.2134954dup	(Likely) pathogenic	1 lab	c5438aff19
2:44102375 ABCG8 C>A	2	44102375	44102375	C	A	ABCG8	c.1579C>A	NM_022437.2	NP_071882.1:p.(Pro527Thr)	NC_000002.11:g.44102375C>A	(Likely) benign	1 lab	c543e07af3
15:65350832 RASL12 C>T	15	65350832	65350832	C	T	RASL12	c.301G>A	NM_001307930.1	NP_001294859.1:p.(Ala101Thr)	NC_000015.9:g.65350832C>T	(Likely) benign	1 lab	c545b70873
15:99467024 IGF1R G>GA	15	99467024	99467025	G	GA	IGF1R	c.2486-81_2486-80insA	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99467024_99467025insA	(Likely) benign	1 lab	c545bb20a7
15:57545667 TCF12 G>A	15	57545667	57545667	G	A	TCF12	c.1467+1G>A	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57545667G>A	(Likely) pathogenic	1 lab	c5465a68ae
2:170063488 LRP2 C>T	2	170063488	170063488	C	T	LRP2	c.6742G>A	NM_004525.3	NP_004516.2:p.(Val2248Ile)	NC_000002.11:g.170063488C>T	VUS	1 lab	c547122d7e
11:120989309 TECTA G>T	11	120989309	120989309	G	T	TECTA	c.1085G>T	NM_005422.2	NP_005413.2:p.(Ser362Ile)	NC_000011.9:g.120989309G>T	VUS	1 lab	c5484c0be8
7:2977640 CARD11 C>T	7	2977640	2977640	C	T	CARD11	c.1044G>A	NM_001324281.1	NP_001311210.1:p.(Glu348=)	NC_000007.13:g.2977640C>T	(Likely) benign	1 lab	c5496ebcf9
6:162622175 PRKN G>A	6	162622175	162622175	G	A	PRKN	c.522C>T	NM_004562.2	NP_004553.2:p.(Leu174=)	NC_000006.11:g.162622175G>A	(Likely) benign	1 lab	c5498b54e2
10:135202522 PAOX C>T	10	135202522	135202522	C	T	PAOX	c.1184C>T	NM_152911.4	NP_690875.1:p.(Ser395Leu)	NC_000010.10:g.135202522C>T	VUS	1 lab	c549bc9807
7:30961788 AQP1 TG>T	7	30961788	30961790	TG	T	AQP1	c.494del	NM_198098.4	NP_932766.1:p.(Gly165ValfsTer12)	NC_000007.13:g.30961790del	VUS	1 lab	c549f48ef9
2:233320929 ALPI T>C	2	233320929	233320929	T	C	ALPI	c.20T>C	NM_001631.5	NP_001622.2:p.(Leu7Pro)	NC_000002.11:g.233320929T>C	VUS	1 lab	c54c1f024f
18:67863893 RTTN A>C	18	67863893	67863893	A	C	RTTN	c.694-9T>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67863893A>C	(Likely) benign	1 lab	c54ccd1646
2:44547488 SLC3A1 G>A	2	44547488	44547488	G	A	SLC3A1	c.1768G>A	NM_000341.3	NP_000332.2:p.(Asp590Asn)	NC_000002.11:g.44547488G>A	(Likely) benign	1 lab	c54d35f76f
22:39175604 DNAL4 C>T	22	39175604	39175604	C	T	DNAL4	c.168G>A	NM_005740.2	NP_005731.1:p.(Met56Ile)	NC_000022.10:g.39175604C>T	VUS	1 lab	c54e3dc4fc
1:110603428 ALX3 T>C	1	110603428	110603428	T	C	ALX3	c.959A>G	NM_006492.3	NP_006483.2:p.(Tyr320Cys)	NC_000001.10:g.110603428T>C	VUS	1 lab	c54e6d1a65
15:57543556 TCF12 C>T	15	57543556	57543556	C	T	TCF12	c.1123C>T	NM_207037.1	NP_996920.1:p.(Gln375Ter)	NC_000015.9:g.57543556C>T	(Likely) pathogenic	1 lab	c54ef5b810
X:49834622 CLCN5 T>G	X	49834622	49834622	T	G	CLCN5	c.252T>G	NM_001127899.3	NP_001121371.1:p.(Tyr84Ter)	NC_000023.10:g.49834622T>G	VUS	1 lab	c54f83ec61
16:55855305 CES1 GC>G	16	55855305	55855306	GC	G	CES1	c.667del	NM_001025195.2	NP_001020366.1:p.(Ala223ArgfsTer35)	NC_000016.9:g.55855306del	VUS	1 lab	c550203c17
8:61767010 CHD7 C>T	8	61767010	61767010	C	T	CHD7				NC_000008.10:g.61767010C>T	(Likely) benign	1 lab	c5a2da33a6
13:32371409 RXFP2 G>A	13	32371409	32371409	G	A	RXFP2	c.1858G>A	NM_130806.4	NP_570718.1:p.(Ala620Thr)	NC_000013.10:g.32371409G>A	(Likely) benign	1 lab	c55160a811
3:108672439 GUCA1C A>C	3	108672439	108672439	A	C	GUCA1C	c.171T>G	NM_005459.4	NP_005450.3:p.(Ile57Met)	NC_000003.11:g.108672439A>C	(Likely) benign	1 lab	c551d4a5fc
19:17948764 JAK3 C>T	19	17948764	17948764	C	T	JAK3	c.1678G>A	NM_000215.3	NP_000206.2:p.(Ala560Thr)	NC_000019.9:g.17948764C>T	(Likely) benign	1 lab	c5521a0bdc
14:92472276 TRIP11 A>G	14	92472276	92472276	A	G	TRIP11	c.2044T>C	NM_004239.4	NP_004230.2:p.(Leu682=)	NC_000014.8:g.92472276A>G	(Likely) benign	1 lab	c5534d58e3
X:152113890 ZNF185 G>A	X	152113890	152113890	G	A	ZNF185	c.1384G>A	NM_001178106.1	NP_001171577.1:p.(Gly462Ser)	NC_000023.10:g.152113890G>A	(Likely) benign	1 lab	c5550980b5
1:171605292 MYOC A>G	1	171605292	171605292	A	G	MYOC	c.1288T>C	NM_000261.1	NP_000252.1:p.(Phe430Leu)	NC_000001.10:g.171605292A>G	(Likely) pathogenic	1 lab	c5552e85b8
12:40748238 LRRK2 A>T	12	40748238	40748238	A	T	LRRK2	c.6714A>T	NM_198578.3	NP_940980.3:p.(Leu2238=)	NC_000012.11:g.40748238A>T	(Likely) benign	1 lab	c555af0526
10:73122350 SLC29A3 G>A	10	73122350	73122350	G	A	SLC29A3	c.1413G>A	NM_018344.6	NP_060814.4:p.(Leu471=)	NC_000010.10:g.73122350G>A	(Likely) benign	1 lab	c55658a149
7:117230480 CFTR G>T	7	117230480	117230480	G	T	CFTR	c.1753G>T	NM_000492.3	NP_000483.3:p.(Glu585Ter)	NC_000007.13:g.117230480G>T	(Likely) pathogenic	1 lab	c556af33d1
11:3063474 CARS1 C>A	11	3063474	3063474	C	A	CARS1	c.287G>T	NM_001014437.2	NP_001014437.1:p.(Arg96Leu)	NC_000011.9:g.3063474C>A	VUS	1 lab	c556bf111e
15:90320190 MESP2 G>A	15	90320190	90320190	G	A	MESP2	c.602G>A	NM_001039958.2	NP_001035047.1:p.(Gly201Glu)	NC_000015.9:g.90320190G>A	(Likely) benign	1 lab	c55849b4b7
19:13423579 CACNA1A A>T	19	13423579	13423579	A	T	CACNA1A	c.1575T>A	NM_023035.2	NP_075461.2:p.(Ile525=)	NC_000019.9:g.13423579A>T	(Likely) benign	1 lab	c55912e939
17:1673303 SERPINF1 C>G	17	1673303	1673303	C	G	SERPINF1	c.242C>G	NM_002615.6	NP_002606.3:p.(Ser81Cys)	NC_000017.10:g.1673303C>G	(Likely) benign	1 lab	c559615867
12:81004409 MISSING G>A	12	81004409	81004409	G	A	MISSING				NC_000012.11:g.81004409G>A	VUS	1 lab	c5598e9a19
15:77906963 LINGO1 C>T	15	77906963	77906963	C	T	LINGO1	c.1268G>A	NM_001301191.1	NP_001288120.1:p.(Arg423His)	NC_000015.9:g.77906963C>T	(Likely) benign	1 lab	c55a08c567
17:29585521 NF1 G>T	17	29585521	29585521	G	T	NF1	c.4269+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29585521G>T	(Likely) pathogenic	1 lab	c55aae217e
11:68748414 MRGPRD G>T	11	68748414	68748414	G	T	MRGPRD	c.42C>A	NM_198923.2	NP_944605.2:p.(Ala14=)	NC_000011.9:g.68748414G>T	(Likely) benign	1 lab	c55bc4ed8b
X:153171036 AVPR2 G>A	X	153171036	153171036	G	A	AVPR2	c.76G>A	NM_001146151.2	NP_001139623.1:p.(Glu26Lys)	NC_000023.10:g.153171036G>A	(Likely) benign	1 lab	c55e4196cd
1:32196922 ADGRB2 C>T	1	32196922	32196922	C	T	ADGRB2	c.3859G>A	NM_001294335.1	NP_001281264.1:p.(Val1287Met)	NC_000001.10:g.32196922C>T	(Likely) benign	1 lab	c55e6c160c
2:69302797 ANTXR1 T>C	2	69302797	69302797	T	C	ANTXR1	c.561+7T>C	NM_032208.2	NP_115584.1:p.?	NC_000002.11:g.69302797T>C	(Likely) benign	1 lab	c55f6313db
8:22884737 TNFRSF10B G>T	8	22884737	22884737	G	T	TNFRSF10B	c.845C>A	NM_003842.4	NP_003833.4:p.(Thr282Asn)	NC_000008.10:g.22884737G>T	VUS	1 lab	c56297906a
7:151873388 KMT2C T>C	7	151873388	151873388	T	C	KMT2C	c.9150A>G	NM_170606.2	NP_733751.2:p.(Glu3050=)	NC_000007.13:g.151873388T>C	(Likely) benign	1 lab	c564362420
9:136513027 DBH G>A	9	136513027	136513027	G	A	DBH	c.1084G>A	NM_000787.3	NP_000778.3:p.(Ala362Thr)	NC_000009.11:g.136513027G>A	VUS	1 lab	c564499c52
10:29169071 C10orf126 C>T	10	29169071	29169071	C	T	C10orf126	c.215C>T	NM_001278522.1	NP_001265451.1:p.(Thr72Met)	NC_000010.10:g.29169071C>T	VUS	1 lab	c565a11141
X:47775083 ZNF81 T>G	X	47775083	47775083	T	G	ZNF81	c.1038T>G	NM_007137.3	NP_009068.2:p.(Ile346Met)	NC_000023.10:g.47775083T>G	(Likely) benign	1 lab	c565c7bc12
5:145719514 POU4F3 C>T	5	145719514	145719514	C	T	POU4F3	c.524C>T	NM_002700.3	NP_002691.1:p.(Ala175Val)	NC_000005.9:g.145719514C>T	VUS	1 lab	c565d68eea
16:89350310 ANKRD11 C>T	16	89350310	89350310	C	T	ANKRD11	c.2640G>A	NM_001256182.1	NP_001243111.1:p.(Thr880=)	NC_000016.9:g.89350310C>T	(Likely) benign	1 lab	c5662aa27c
4:108926055 HADH G>A	4	108926055	108926055	G	A	HADH	c.126G>A	NM_001331027.1	NP_001317956.1:p.(Trp42Ter)	NC_000004.11:g.108926055G>A	(Likely) pathogenic	1 lab	c569f845f1
4:3516564 LRPAP1 T>C	4	3516564	3516564	T	C	LRPAP1	c.926A>G	NM_002337.4	NP_002328.1:p.(Glu309Gly)	NC_000004.11:g.3516564T>C	VUS	1 lab	c56adfa91b
16:2126172 TSC2 G>A	16	2126172	2126172	G	A	TSC2	c.2742+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126172G>A	(Likely) pathogenic	1 lab	c56d6c5463
2:122227440 CLASP1 A>G	2	122227440	122227440	A	G	CLASP1	c.809T>C	NM_015282.2	NP_056097.1:p.(Val270Ala)	NC_000002.11:g.122227440A>G	(Likely) benign	1 lab	c56d97afb0
1:152278794 FLG C>T	1	152278794	152278794	C	T	FLG	c.8568G>A	NM_002016.1	NP_002007.1:p.(Ser2856=)	NC_000001.10:g.152278794C>T	(Likely) benign	1 lab	c56da99f52
7:128488935 FLNC G>A	7	128488935	128488935	G	A	FLNC	c.4826G>A	NM_001458.4	NP_001449.3:p.(Arg1609Gln)	NC_000007.13:g.128488935G>A	VUS	1 lab	c56dfa3c46
16:2111984 TSC2 TG>T	16	2111984	2111986	TG	T	TSC2	c.1234del	NM_000548.5	NP_000539.2:p.(Glu412ArgfsTer13)	NC_000016.9:g.2111986del	(Likely) pathogenic	1 lab	c56e15b834
6:31829955 NEU1 A>G	6	31829955	31829955	A	G	NEU1	c.173T>C	NM_000434.3	NP_000425.1:p.(Val58Ala)	NC_000006.11:g.31829955A>G	VUS	1 lab	c56eb08313
17:78155422 CARD14 G>A	17	78155422	78155422	G	A	CARD14	c.185G>A	NM_024110.4	NP_077015.2:p.(Arg62Gln)	NC_000017.10:g.78155422G>A	(Likely) benign	1 lab	c56ed93bc2
7:100771797 SERPINE1 G>A	7	100771797	100771797	G	A	SERPINE1	c.123G>A	NM_000602.4	NP_000593.1:p.(Arg41=)	NC_000007.13:g.100771797G>A	(Likely) benign	1 lab	c56fb536b7
1:197072640 ASPM T>C	1	197072640	197072640	T	C	ASPM	c.5741A>G	NM_018136.4	NP_060606.3:p.(Gln1914Arg)	NC_000001.10:g.197072640T>C	(Likely) benign	1 lab	c5704a3930
9:139401027 NOTCH1 G>A	9	139401027	139401027	G	A	NOTCH1	c.3966C>T	NM_017617.5	NP_060087.3:p.(Cys1322=)	NC_000009.11:g.139401027G>A	(Likely) benign	1 lab	c5715b0905
17:48265922 COL1A1 G>A	17	48265922	48265922	G	A	COL1A1	c.3176C>T	NM_000088.3	NP_000079.2:p.(Pro1059Leu)	NC_000017.10:g.48265922G>A	VUS	1 lab	c572cc0ef1
7:45726156 ADCY1 G>A	7	45726156	45726156	G	A	ADCY1	c.2338G>A	NM_021116.3	NP_066939.1:p.(Val780Ile)	NC_000007.13:g.45726156G>A	(Likely) benign	1 lab	c5737036d8
7:42017192 GLI3 G>C	7	42017192	42017192	G	C	GLI3	c.1777C>G	NM_000168.5	NP_000159.3:p.(Arg593Gly)	NC_000007.13:g.42017192G>C	VUS	1 lab	c574422c4a
8:94767328 TMEM67 T>C	8	94767328	94767328	T	C	TMEM67	c.186T>C	NM_153704.5	NP_714915.3:p.(Cys62=)	NC_000008.10:g.94767328T>C	(Likely) benign	1 lab	c575a050c9
2:179582900 TTN C>G	2	179582900	179582900	C	G	TTN	c.24833G>C	NM_001267550.1	NP_001254479.1:p.(Gly8278Ala)	NC_000002.11:g.179582900C>G	VUS	1 lab	c576cef8ff
19:33355008 SLC7A9 C>T	19	33355008	33355008	C	T	SLC7A9	c.472G>A	NM_001243036.1	NP_001229965.1:p.(Ala158Thr)	NC_000019.9:g.33355008C>T	(Likely) benign	1 lab	c577d656c5
17:29562764 NF1 A>C	17	29562764	29562764	A	C	NF1	c.3844A>C	NM_000267.3	NP_000258.1:p.(Ser1282Arg)	NC_000017.10:g.29562764A>C	(Likely) pathogenic	1 lab	c57866e059
4:122831369 TRPC3 C>T	4	122831369	122831369	C	T	TRPC3				NC_000004.11:g.122831369C>T	(Likely) benign	1 lab	c578bf25a1
2:152439984 NEB G>A	2	152439984	152439984	G	A	NEB	c.15960C>T	NM_001271208.1	NP_001258137.1:p.(Tyr5320=)	NC_000002.11:g.152439984G>A	(Likely) benign	1 lab	c57a75bc32
14:24003807 ZFHX2 C>T	14	24003807	24003807	C	T	ZFHX2	c.728G>A	NM_033400.3	NP_207646.2:p.(Arg243His)	NC_000014.8:g.24003807C>T	(Likely) benign	1 lab	c57cc492df
X:39922039 BCOR G>A	X	39922039	39922039	G	A	BCOR	c.4133C>T	NM_001123385.1	NP_001116857.1:p.(Pro1378Leu)	NC_000023.10:g.39922039G>A	(Likely) benign	1 lab	c57d886d4a
2:182396457 ITGA4 C>A	2	182396457	182396457	C	A	ITGA4	c.2738C>A	NM_000885.5	NP_000876.3:p.(Ala913Asp)	NC_000002.11:g.182396457C>A	VUS	1 lab	c57eb86197
5:13776718 DNAH5 T>C	5	13776718	13776718	T	C	DNAH5	c.9203A>G	NM_001369.2	NP_001360.1:p.(Glu3068Gly)	NC_000005.9:g.13776718T>C	VUS	1 lab	c57ed112e1
17:78082423 GAA G>T	17	78082423	78082423	G	T	GAA	c.1194+17G>T	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78082423G>T	(Likely) benign	1 lab	c581db9c74
6:44219845 HSP90AB1 G>T	6	44219845	44219845	G	T	HSP90AB1	c.1572G>T	NM_001271969.1	NP_001258898.1:p.(Gln524His)	NC_000006.11:g.44219845G>T	(Likely) benign	1 lab	c58240e1d8
8:38103310 DDHD2 C>T	8	38103310	38103310	C	T	DDHD2	c.899C>T	NM_015214.2	NP_056029.2:p.(Thr300Ile)	NC_000008.10:g.38103310C>T	(Likely) benign	1 lab	c58517d3fe
17:78011983 CCDC40 A>G	17	78011983	78011983	A	G	CCDC40	c.91A>G	NM_017950.3	NP_060420.2:p.(Met31Val)	NC_000017.10:g.78011983A>G	VUS	1 lab	c58661be87
21:47412129 COL6A1 G>A	21	47412129	47412129	G	A	COL6A1	c.1234G>A	NM_001848.2	NP_001839.2:p.(Glu412Lys)	NC_000021.8:g.47412129G>A	VUS	1 lab	c5878a31a5
11:6559948 DNHD1 G>A	11	6559948	6559948	G	A	DNHD1	c.3233G>A	NM_144666.2	NP_653267.2:p.(Arg1078His)	NC_000011.9:g.6559948G>A	(Likely) benign	1 lab	c58875fa8e
10:26312972 MYO3A G>A	10	26312972	26312972	G	A	MYO3A	c.753G>A	NM_017433.5	NP_059129.3:p.(Arg251=)	NC_000010.10:g.26312972G>A	(Likely) benign	1 lab	c589e59ae9
19:45855520 ERCC2 C>G	19	45855520	45855520	C	G	ERCC2	c.2137G>C	NM_000400.3	NP_000391.1:p.(Gly713Arg)	NC_000019.9:g.45855520C>G	(Likely) pathogenic	1 lab	c58e7b7fe9
10:52005095 ASAH2 G>A	10	52005095	52005095	G	A	ASAH2	c.247C>T	NM_019893.3	NP_063946.2:p.(Gln83Ter)	NC_000010.10:g.52005095G>A	(Likely) benign	1 lab	c591a0f128
18:28972295 DSG4 G>A	18	28972295	28972295	G	A	DSG4	c.997G>A	NM_001134453.2	NP_001127925.1:p.(Val333Ile)	NC_000018.9:g.28972295G>A	VUS	1 lab	c59204c63d
2:230693990 TRIP12 TTGCC>T	2	230693990	230693995	TTGCC	T	TRIP12	c.1365_1368del	NM_001348323.3	NP_001335252.1:p.(Ala456GlyfsTer77)	NC_000002.11:g.230693992_230693995del	(Likely) pathogenic	1 lab	c5922aba7b
6:157099777 ARID1B C>T	6	157099777	157099777	C	T	ARID1B	c.714C>T	NM_001346813.1	NP_001333742.1:p.(Ala238=)	NC_000006.11:g.157099777C>T	(Likely) benign	1 lab	c59281645a
20:55101017 FAM209A C>T	20	55101017	55101017	C	T	FAM209A	c.407C>T	NM_001012971.3	NP_001012989.2:p.(Ala136Val)	NC_000020.10:g.55101017C>T	(Likely) benign	1 lab	c592cc5a59
19:19616154 GATAD2A C>T	19	19616154	19616154	C	T	GATAD2A	c.1776C>T	NM_001300946.2	NP_001287875.1:p.(Gly592=)	NC_000019.9:g.19616154C>T	VUS	1 lab	c59513b060
5:135391422 TGFBI C>T	5	135391422	135391422	C	T	TGFBI	c.1464C>T	NM_000358.2	NP_000349.1:p.(Tyr488=)	NC_000005.9:g.135391422C>T	(Likely) benign	1 lab	c59657b926
17:10265782 MYH13 G>T	17	10265782	10265782	G	T	MYH13	c.243C>A	NM_003802.3	NP_003793.2:p.(Asn81Lys)	NC_000017.10:g.10265782G>T	VUS	1 lab	c59a8871ee
7:103155951 RELN AAAG>A	7	103155951	103155955	AAAG	A	RELN	c.7863-66_7863-64del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103155953_103155955del	(Likely) benign	1 lab	c59b5994aa
2:136623841 MCM6 C>T	2	136623841	136623841	C	T	MCM6	c.788G>A	NM_005915.5	NP_005906.2:p.(Arg263His)	NC_000002.11:g.136623841C>T	VUS	1 lab	c59c28d976
18:67812989 RTTN T>A	18	67812989	67812989	T	A	RTTN	c.2340A>T	NM_173630.3	NP_775901.3:p.(Ala780=)	NC_000018.9:g.67812989T>A	(Likely) benign	1 lab	c59d39308b
X:41201884 DDX3X C>G	X	41201884	41201884	C	G	DDX3X	c.421C>G	NM_001356.4	NP_001347.3:p.(Pro141Ala)	NC_000023.10:g.41201884C>G	VUS	1 lab	c59d593fbb
15:28459898 HERC2 G>A	15	28459898	28459898	G	A	HERC2	c.6261C>T	NM_004667.5	NP_004658.3:p.(Thr2087=)	NC_000015.9:g.28459898G>A	(Likely) benign	1 lab	c59e44ebaa
13:103518275 ERCC5 A>G	13	103518275	103518275	A	G	ERCC5	c.2199+14A>G	NM_000123.3	NP_000114.2:p.?	NC_000013.10:g.103518275A>G	(Likely) benign	1 lab	c59f2161a4
4:39254826 WDR19 C>G	4	39254826	39254826	C	G	WDR19	c.2790C>G	NM_025132.3	NP_079408.3:p.(Ile930Met)	NC_000004.11:g.39254826C>G	VUS	1 lab	c59fea2c0e
15:23890857 MAGEL2 G>C	15	23890857	23890857	G	C	MAGEL2	c.2033C>G	NM_019066.4	NP_061939.3:p.(Pro678Arg)	NC_000015.9:g.23890857G>C	VUS	1 lab	c5a0dfca09
9:86586955 HNRNPK A>G	9	86586955	86586955	A	G	HNRNPK	c.795T>C	NM_002140.4	NP_002131.2:p.(Pro265=)	NC_000009.11:g.86586955A>G	(Likely) benign	1 lab	c5a112a201
10:89711945 PTEN A>G	10	89711945	89711945	A	G	PTEN	c.563A>G	NM_000314.4	NP_000305.3:p.(Tyr188Cys)	NC_000010.10:g.89711945A>G	(Likely) pathogenic	1 lab	c5a2701e57
17:29562744 NF1 TC>T	17	29562744	29562746	TC	T	NF1	c.3826del	NM_001042492.3	NP_001035957.1:p.(Arg1276GlufsTer9)	NC_000017.10:g.29562746del	(Likely) pathogenic	1 lab	c5a375bb00
15:28389831 HERC2 T>G	15	28389831	28389831	T	G	HERC2	c.11128A>C	NM_004667.5	NP_004658.3:p.(Met3710Leu)	NC_000015.9:g.28389831T>G	VUS	1 lab	c5a380cc26
1:65300247 JAK1 A>G	1	65300247	65300247	A	G	JAK1	c.3463T>C	NM_001321853.1	NP_001308782.1:p.(Ter1155GlnextTer3)	NC_000001.10:g.65300247A>G	VUS	1 lab	c5a4ace9c8
17:3853996 ATP2A3 T>A	17	3853996	3853996	T	A	ATP2A3	c.535A>T	NM_174953.2	NP_777613.1:p.(Ile179Phe)	NC_000017.10:g.3853996T>A	VUS	1 lab	c5a5323cfb
X:147088228 FMR1NB A>G	X	147088228	147088228	A	G	FMR1NB	c.404A>G	NM_152578.2	NP_689791.1:p.(Asn135Ser)	NC_000023.10:g.147088228A>G	(Likely) benign	1 lab	c5a5952a23
12:102158113 GNPTAB C>T	12	102158113	102158113	C	T	GNPTAB	c.2582G>A	NM_024312.4	NP_077288.2:p.(Arg861Lys)	NC_000012.11:g.102158113C>T	(Likely) benign	1 lab	c5a5f345e7
X:153173202 ARHGAP4 G>A	X	153173202	153173202	G	A	ARHGAP4	c.2942C>T	NM_001164741.1	NP_001158213.1:p.(Thr981Met)	NC_000023.10:g.153173202G>A	(Likely) benign	1 lab	c5a6adcdcc
5:145502120 LARS1 C>T	5	145502120	145502120	C	T	LARS1	c.3127G>A	NM_020117.10	NP_064502.9:p.(Glu1043Lys)	NC_000005.9:g.145502120C>T	VUS	1 lab	c5a86cc861
18:31324414 ASXL3 T>TC	18	31324414	31324415	T	TC	ASXL3	c.4603dup	NM_030632.2	NP_085135.1:p.(His1535ProfsTer16)	NC_000018.9:g.31324415dup	(Likely) pathogenic	1 lab	c5a9e82ab7
11:31814885 PAX6 C>T	11	31814885	31814885	C	T	PAX6	c.1133G>A	NM_001310159.1	NP_001297088.1:p.(Ser378Asn)	NC_000011.9:g.31814885C>T	VUS	1 lab	c5acb9c300
X:128657191 SMARCA1 C>T	X	128657191	128657191	C	T	SMARCA1	c.157G>A	NM_003069.4	NP_003060.2:p.(Gly53Ser)	NC_000023.10:g.128657191C>T	(Likely) benign	1 lab	c5ae232fd9
11:6653010 DCHS1 C>T	11	6653010	6653010	C	T	DCHS1				NC_000011.9:g.6653010C>T	VUS	1 lab	c5b1ecdbb3
12:80729766 OTOGL T>C	12	80729766	80729766	T	C	OTOGL	c.4419T>C	NM_173591.3	NP_775862.3:p.(Tyr1473=)	NC_000012.11:g.80729766T>C	(Likely) benign	1 lab	c5b217eda3
21:45175882 PDXK A>G	21	45175882	45175882	A	G	PDXK	c.877A>G	NM_003681.5	NP_003672.1:p.(Met293Val)	NC_000021.8:g.45175882A>G	(Likely) benign	1 lab	c5b2d0450b
5:138661171 MATR3 T>C	5	138661171	138661171	T	C	MATR3	c.2191T>C	NM_199189.2	NP_954659.1:p.(Leu731=)	NC_000005.9:g.138661171T>C	(Likely) benign	1 lab	c5b4b5bfc9
X:54964042 PFKFB1 A>G	X	54964042	54964042	A	G	PFKFB1	c.1214T>C	NM_002625.3	NP_002616.2:p.(Leu405Pro)	NC_000023.10:g.54964042A>G	VUS	1 lab	c5b4f2bb77
17:423141 VPS53 C>T	17	423141	423141	C	T	VPS53	c.2253G>A	NM_001128159.2	NP_001121631.1:p.(Val751=)	NC_000017.10:g.423141C>T	(Likely) benign	1 lab	c5b7346994
12:44171436 IRAK4 T>C	12	44171436	44171436	T	C	IRAK4	c.348T>C	NM_001351338.1	NP_001338267.1:p.(Cys116=)	NC_000012.11:g.44171436T>C	(Likely) benign	1 lab	c5b81684c6
2:170009350 LRP2 G>A	2	170009350	170009350	G	A	LRP2	c.12420C>T	NM_004525.3	NP_004516.2:p.(Tyr4140=)	NC_000002.11:g.170009350G>A	(Likely) benign	1 lab	c5bbadecd3
1:156305676 CCT3 T>C	1	156305676	156305676	T	C	CCT3	c.35A>G	NM_005998.5	NP_005989.3:p.(Gln12Arg)	NC_000001.10:g.156305676T>C	VUS	1 lab	c5be0e0f2e
X:142795404 SPANXN2 C>G	X	142795404	142795404	C	G	SPANXN2	c.274G>C	NM_001009615.2	NP_001009615.1:p.(Ala92Pro)	NC_000023.10:g.142795404C>G	VUS	1 lab	c5bf75c857
3:167413455 PDCD10 TCG>T	3	167413455	167413457	TCG	T	PDCD10	c.322_323del	NM_007217.4	NP_009148.2:p.(Arg108SerfsTer3)	NC_000003.11:g.167413456_167413457del	(Likely) pathogenic	1 lab	c5c0344c9b
20:47639644 ARFGEF2 C>G	20	47639644	47639644	C	G	ARFGEF2	c.4681C>G	NM_006420.2	NP_006411.2:p.(Gln1561Glu)	NC_000020.10:g.47639644C>G	(Likely) benign	1 lab	c5c31eeddd
2:179447262 TTN A>C	2	179447262	179447262	A	C	TTN	c.65921T>G	NM_001267550.1	NP_001254479.1:p.(Met21974Arg)	NC_000002.11:g.179447262A>C	VUS	1 lab	c5c334f7d6
X:153069167 PDZD4 G>A	X	153069167	153069167	G	A	PDZD4	c.1663C>T	NM_001303513.1	NP_001290442.1:p.(Leu555=)	NC_000023.10:g.153069167G>A	(Likely) benign	1 lab	c5c472f9e7
1:116268164 CASQ2 G>A	1	116268164	116268164	G	A	CASQ2	c.748C>T	NM_001232.3	NP_001223.2:p.(Arg250Cys)	NC_000001.10:g.116268164G>A	VUS	1 lab	c5c550fc4e
1:152186605 HRNR G>A	1	152186605	152186605	G	A	HRNR	c.7500C>T	NM_001009931.2	NP_001009931.1:p.(Gly2500=)	NC_000001.10:g.152186605G>A	(Likely) benign	1 lab	c5c6fbd95c
X:75004044 MAGEE2 C>T	X	75004044	75004044	C	T	MAGEE2	c.843G>A	NM_138703.4	NP_619648.1:p.(Trp281Ter)	NC_000023.10:g.75004044C>T	VUS	1 lab	c5c7569b1b
19:48343089 CRX C>T	19	48343089	48343089	C	T	CRX	c.765C>T	NM_000554.5	NP_000545.1:p.(Gly255=)	NC_000019.9:g.48343089C>T	VUS	1 lab	c5cb12ba31
1:154247422 HAX1 G>A	1	154247422	154247422	G	A	HAX1	c.505-4G>A	NM_006118.3	NP_006109.2:p.?	NC_000001.10:g.154247422G>A	(Likely) benign	1 lab	c5cc70e0a8
18:19080561 GREB1L C>A	18	19080561	19080561	C	A	GREB1L	c.4030C>A	NM_001142966.2	NP_001136438.1:p.(Leu1344Ile)	NC_000018.9:g.19080561C>A	(Likely) benign	1 lab	c5cd4d7eb0
17:29559715 NF1 C>G	17	29559715	29559715	C	G	NF1	c.3315-3C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29559715C>G	(Likely) pathogenic	1 lab	c5cd4f56bc
16:84193280 DNAAF1 C>A	16	84193280	84193280	C	A	DNAAF1	c.742C>A	NM_178452.5	NP_848547.4:p.(Arg248Ser)	NC_000016.9:g.84193280C>A	(Likely) benign	1 lab	c5ce7fee56
2:179457909 TTN C>T	2	179457909	179457909	C	T	TTN	c.59026G>A	NM_001267550.1	NP_001254479.1:p.(Asp19676Asn)	NC_000002.11:g.179457909C>T	VUS	1 lab	c5ce9ebdad
1:154437778 IL6R G>A	1	154437778	154437778	G	A	IL6R	c.1329G>A	NM_000565.3	NP_000556.1:p.(Ser443=)	NC_000001.10:g.154437778G>A	(Likely) benign	1 lab	c5d1197be3
12:1984422 CACNA2D4 C>G	12	1984422	1984422	C	G	CACNA2D4	c.1801G>C	NM_172364.4	NP_758952.4:p.(Glu601Gln)	NC_000012.11:g.1984422C>G	VUS	1 lab	c5d3ac92d0
16:88497171 ZNF469 CCGAGGAGGA>C	16	88497171	88497184	CCGAGGAGGA	C	ZNF469	c.3298_3306del	NM_001367624.2	NP_001354553.1:p.(Glu1100_Glu1102del)	NC_000016.9:g.88497176_88497184del	VUS	1 lab	c5d404da89
19:10274006 DNMT1 C>T	19	10274006	10274006	C	T	DNMT1	c.874G>A	NM_001379.3	NP_001370.1:p.(Asp292Asn)	NC_000019.9:g.10274006C>T	VUS	1 lab	c5d4861cc2
11:66333798 CTSF C>G	11	66333798	66333798	C	G	CTSF	c.685G>C	NM_003793.3	NP_003784.2:p.(Ala229Pro)	NC_000011.9:g.66333798C>G	VUS	1 lab	c5d4d819e6
16:68397442 SMPD3 C>T	16	68397442	68397442	C	T	SMPD3	c.1666G>A	NM_018667.4	NP_061137.1:p.(Gly556Ser)	NC_000016.9:g.68397442C>T	(Likely) benign	1 lab	c5d56479e3
14:76238192 TTLL5 C>CAGAT	14	76238192	76238196	C	CAGAT	TTLL5	c.2132_2135dup	NM_015072.4	NP_055887.3:p.(Met712IlefsTer15)	NC_000014.8:g.76238193_76238196dup	(Likely) pathogenic	1 lab	c5d56632bd
19:54651931 CNOT3 C>T	19	54651931	54651931	C	T	CNOT3	c.943C>T	NM_014516.4	NP_055331.1:p.(Gln315Ter)	NC_000019.9:g.54651931C>T	(Likely) pathogenic	1 lab	c5d5c9e2a1
5:68716162 MARVELD2 G>A	5	68716162	68716162	G	A	MARVELD2	c.950G>A	NM_001038603.2	NP_001033692.2:p.(Arg317Gln)	NC_000005.9:g.68716162G>A	VUS	1 lab	c5d7ab3a4b
1:228548086 OBSCN C>T	1	228548086	228548086	C	T	OBSCN	c.19493C>T	NM_052843.3	NP_443075.3:p.(Ser6498Leu)	NC_000001.10:g.228548086C>T	VUS	1 lab	c5d9cfd594
21:44841204 SIK1 G>A	21	44841204	44841204	G	A	SIK1	c.543C>T	NM_173354.4	NP_775490.2:p.(Ser181=)	NC_000021.8:g.44841204G>A	(Likely) benign	1 lab	c5d9ff3e9f
11:118209922 CD3D ATCATCTCGATCT>A	11	118209922	118209934	ATCATCTCGATCT	A	CD3D	c.459_470del	NM_000732.6	NP_000723.1:p.(Asp154_Asp157del)	NC_000011.9:g.118209923_118209934del	VUS	1 lab	c5dadfe816
16:2374394 ABCA3 G>A	16	2374394	2374394	G	A	ABCA3	c.447+11C>T	NM_001089.2	NP_001080.2:p.?	NC_000016.9:g.2374394G>A	(Likely) benign	1 lab	c5db6509a2
15:73735591 REC114 C>T	15	73735591	73735591	C	T	REC114	c.65C>T	NM_001042367.2	NP_001035826.1:p.(Pro22Leu)	NC_000015.9:g.73735591C>T	VUS	1 lab	c5dcfa3cfd
X:70777113 OGT T>A	X	70777113	70777113	T	A	OGT	c.1359T>A	NM_181673.2	NP_858059.1:p.(Pro453=)	NC_000023.10:g.70777113T>A	(Likely) benign	1 lab	c5dffded83
1:148262156 MISSING G>A	1	148262156	148262156	G	A	MISSING				NC_000001.10:g.148262156G>A	(Likely) benign	1 lab	c5e3fba545
16:71997139 PKD1L3 G>C	16	71997139	71997139	G	C	PKD1L3	c.2577C>G	NM_181536.1	NP_853514.1:p.(Phe859Leu)	NC_000016.9:g.71997139G>C	VUS	1 lab	c5e45942a2
14:88940082 PTPN21 C>T	14	88940082	88940082	C	T	PTPN21	c.2576G>A	NM_007039.3	NP_008970.2:p.(Gly859Glu)	NC_000014.8:g.88940082C>T	VUS	1 lab	c5e46ecc2c
5:1394877 SLC6A3 G>T	5	1394877	1394877	G	T	SLC6A3	c.1840-4C>A	NM_001044.4	NP_001035.1:p.?	NC_000005.9:g.1394877G>T	(Likely) benign	1 lab	c5e53d8421
X:9935961 CLDN34 G>A	X	9935961	9935961	G	A	CLDN34	c.564G>A	NM_001195081.1	NP_001182010.1:p.(Pro188=)	NC_000023.10:g.9935961G>A	(Likely) benign	1 lab	c5e5714b69
16:1507719 CLCN7 C>T	16	1507719	1507719	C	T	CLCN7	c.714G>A	NM_001287.5	NP_001278.1:p.(Val238=)	NC_000016.9:g.1507719C>T	(Likely) benign	1 lab	c5e59a0306
2:179593307 TTN T>C	2	179593307	179593307	T	C	TTN	c.19346A>G	NM_001267550.1	NP_001254479.1:p.(Lys6449Arg)	NC_000002.11:g.179593307T>C	VUS	1 lab	c5eabd9b41
2:216244047 FN1 A>G	2	216244047	216244047	A	G	FN1	c.5435-7T>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216244047A>G	(Likely) benign	1 lab	c5ec514ee3
7:6026755 PMS2 T>C	7	6026755	6026755	T	C	PMS2	c.1641A>G	NM_000535.5	NP_000526.1:p.(Ser547=)	NC_000007.13:g.6026755T>C	(Likely) benign	1 lab	c5ed0e765d
20:62070057 KCNQ2 C>G	20	62070057	62070057	C	G	KCNQ2	c.944G>C	NM_172107.3	NP_742105.1:p.(Gly315Ala)	NC_000020.10:g.62070057C>G	(Likely) pathogenic	1 lab	c5ed76684a
7:44796125 ZMIZ2 C>T	7	44796125	44796125	C	T	ZMIZ2	c.152C>T	NM_031449.4	NP_113637.3:p.(Ala51Val)	NC_000007.13:g.44796125C>T	(Likely) benign	1 lab	c5ede46b0f
12:88480220 CEP290 T>C	12	88480220	88480220	T	C	CEP290	c.4250A>G	NM_025114.3	NP_079390.3:p.(Gln1417Arg)	NC_000012.11:g.88480220T>C	VUS	1 lab	c5f0555798
10:3189414 PITRM1 A>G	10	3189414	3189414	A	G	PITRM1	c.2267T>C	NM_001242307.1	NP_001229236.1:p.(Met756Thr)	NC_000010.10:g.3189414A>G	(Likely) benign	1 lab	c5f234e617
13:32907118 BRCA2 C>T	13	32907118	32907118	C	T	BRCA2	c.1503C>T	NM_000059.3	NP_000050.2:p.(Ile501=)	NC_000013.10:g.32907118C>T	(Likely) benign	1 lab	c5f47cf551
7:1523707 INTS1 A>C	7	1523707	1523707	A	C	INTS1	c.3361T>G	NM_001080453.3	NP_001073922.2:p.(Leu1121Val)	NC_000007.13:g.1523707A>C	(Likely) benign	1 lab	c5f520a50a
12:2789630 CACNA1C C>T	12	2789630	2789630	C	T	CACNA1C	c.5513C>T	NM_001167625.1	NP_001161097.1:p.(Ala1838Val)	NC_000012.11:g.2789630C>T	(Likely) benign	1 lab	c5f8111d38
7:100678779 MUC17 C>T	7	100678779	100678779	C	T	MUC17	c.4082C>T	NM_001040105.1	NP_001035194.1:p.(Pro1361Leu)	NC_000007.13:g.100678779C>T	(Likely) benign	1 lab	c5f88e34fd
6:168910679 SMOC2 G>T	6	168910679	168910679	G	T	SMOC2	c.169G>T	NM_022138.2	NP_071421.1:p.(Gly57Ter)	NC_000006.11:g.168910679G>T	(Likely) pathogenic	1 lab	c5fa64a5a7
12:122845608 CLIP1 C>T	12	122845608	122845608	C	T	CLIP1	c.903G>A	NM_001247997.1	NP_001234926.1:p.(Ala301=)	NC_000012.11:g.122845608C>T	(Likely) benign	1 lab	c5facf1bbf
5:131670465 SLC22A4 T>C	5	131670465	131670465	T	C	SLC22A4	c.1101T>C	NM_003059.3	NP_003050.2:p.(His367=)	NC_000005.9:g.131670465T>C	(Likely) benign	1 lab	c5fbf72252
X:150911988 CNGA2 T>C	X	150911988	150911988	T	C	CNGA2	c.1013T>C	NM_005140.1	NP_005131.1:p.(Ile338Thr)	NC_000023.10:g.150911988T>C	VUS	1 lab	c5fc71869c
2:135926205 RAB3GAP1 C>G	2	135926205	135926205	C	G	RAB3GAP1	c.2821C>G	NM_001172435.1	NP_001165906.1:p.(Pro941Ala)	NC_000002.11:g.135926205C>G	VUS	1 lab	c5ffcbc5b9
2:234677086 UGT1A1 G>T	2	234677086	234677086	G	T	UGT1A1	c.1304+1G>T	NM_000463.2	NP_000454.1:p.?	NC_000002.11:g.234677086G>T	(Likely) pathogenic	1 lab	c600508bf4
1:242042454 EXO1 C>G	1	242042454	242042454	C	G	EXO1	c.1918C>G	NM_130398.3	NP_569082.2:p.(Pro640Ala)	NC_000001.10:g.242042454C>G	(Likely) benign	1 lab	c600866d1e
8:61775150 CHD7 G>A	8	61775150	61775150	G	A	CHD7				NC_000008.10:g.61775150G>A	(Likely) pathogenic	1 lab	c6016d2f93
8:27641581 ESCO2 A>G	8	27641581	27641581	A	G	ESCO2	c.1013+7A>G	NM_001017420.2	NP_001017420.1:p.?	NC_000008.10:g.27641581A>G	(Likely) benign	1 lab	c601c2f3b4
6:35477075 TULP1 C>A	6	35477075	35477075	C	A	TULP1	c.733G>T	NM_003322.5	NP_003313.3:p.(Ala245Ser)	NC_000006.11:g.35477075C>A	VUS	1 lab	c60221717e
15:34123259 RYR3 G>A	15	34123259	34123259	G	A	RYR3	c.11430G>A	NM_001036.4	NP_001027.3:p.(Lys3810=)	NC_000015.9:g.34123259G>A	(Likely) benign	1 lab	c603ca4f3d
12:56397582 SUOX T>C	12	56397582	56397582	T	C	SUOX	c.409T>C	NM_000456.2	NP_000447.2:p.(Trp137Arg)	NC_000012.11:g.56397582T>C	VUS	1 lab	c60562f7d4
2:202057799 CASP10 A>G	2	202057799	202057799	A	G	CASP10	c.534A>G	NM_032977.3	NP_116759.2:p.(Val178=)	NC_000002.11:g.202057799A>G	(Likely) benign	1 lab	c606dabc0d
1:11854874 MTHFR C>A	1	11854874	11854874	C	A	MTHFR	c.1078G>T	NM_005957.4	NP_005948.3:p.(Glu360Ter)	NC_000001.10:g.11854874C>A	(Likely) pathogenic	1 lab	c60792c9be
21:47836257 PCNT T>C	21	47836257	47836257	T	C	PCNT	c.6425T>C	NM_006031.5	NP_006022.3:p.(Ile2142Thr)	NC_000021.8:g.47836257T>C	(Likely) benign	1 lab	c608785ac1
X:129349282 ZNF280C T>C	X	129349282	129349282	T	C	ZNF280C	c.1864A>G	NM_017666.4	NP_060136.1:p.(Ile622Val)	NC_000023.10:g.129349282T>C	VUS	1 lab	c608b2fb02
9:420563 DOCK8 G>T	9	420563	420563	G	T	DOCK8	c.4003G>T	NM_203447.3	NP_982272.2:p.(Val1335Leu)	NC_000009.11:g.420563G>T	(Likely) benign	1 lab	c60a0d0a99
9:133932301 LAMC3 CT>C	9	133932301	133932303	CT	C	LAMC3	c.1940-13del	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133932303del	(Likely) benign	1 lab	c60ba8155e
12:8670801 CLEC4D G>A	12	8670801	8670801	G	A	CLEC4D	c.163G>A	NM_080387.5	NP_525126.2:p.(Val55Met)	NC_000012.11:g.8670801G>A	(Likely) benign	1 lab	c60be37518
9:1056887 DMRT2 C>G	9	1056887	1056887	C	G	DMRT2	c.1300C>G	NM_181872.4	NP_870987.2:p.(Arg434Gly)	NC_000009.11:g.1056887C>G	VUS	1 lab	c60c03abb6
15:30899314 GOLGA8H C>T	15	30899314	30899314	C	T	GOLGA8H	c.244C>T	NM_001282490.1	NP_001269419.1:p.(Arg82Ter)	NC_000015.9:g.30899314C>T	(Likely) benign	1 lab	c60c40432e
8:142483038 MROH5 A>G	8	142483038	142483038	A	G	MROH5	c.1781T>C	NM_207414.2	NP_997297.2:p.(Leu594Pro)	NC_000008.10:g.142483038A>G	(Likely) benign	1 lab	c60d5f1cec
11:65635455 EFEMP2 G>A	11	65635455	65635455	G	A	EFEMP2	c.1047C>T	NM_016938.4	NP_058634.4:p.(Thr349=)	NC_000011.9:g.65635455G>A	(Likely) benign	1 lab	c6100f0cd8
4:126373858 FAT4 C>T	4	126373858	126373858	C	T	FAT4	c.11687C>T	NM_024582.4	NP_078858.4:p.(Ala3896Val)	NC_000004.11:g.126373858C>T	VUS	1 lab	c611238d6a
3:123036878 ADCY5 G>T	3	123036878	123036878	G	T	ADCY5	c.2343C>A	NM_183357.2	NP_899200.1:p.(Thr781=)	NC_000003.11:g.123036878G>T	(Likely) benign	1 lab	c61295a3a2
17:78184545 SGSH T>G	17	78184545	78184545	T	G	SGSH	c.1215A>C	NM_000199.4	NP_000190.1:p.(Ser405=)	NC_000017.10:g.78184545T>G	(Likely) benign	1 lab	c612c2a344
19:48025213 ZNF541 A>G	19	48025213	48025213	A	G	ZNF541	c.3609T>C	NM_001277075.2	NP_001264004.1:p.(Tyr1203=)	NC_000019.9:g.48025213A>G	(Likely) benign	1 lab	c613cb199d
6:56401694 DST T>G	6	56401694	56401694	T	G	DST	c.10296A>C	NM_001144769.2	NP_001138241.1:p.(Gln3432His)	NC_000006.11:g.56401694T>G	VUS	1 lab	c614bf92b0
18:56205262 ALPK2 A>C	18	56205262	56205262	A	C	ALPK2	c.2157T>G	NM_052947.4	NP_443179.3:p.(His719Gln)	NC_000018.9:g.56205262A>C	(Likely) benign	1 lab	c616161269
9:17073 WASHC1 C>T	9	17073	17073	C	T	WASHC1	c.775G>A	NM_182905.4	NP_878908.4:p.(Asp259Asn)	NC_000009.11:g.17073C>T	VUS	1 lab	c616ffd5ad
11:47364163 MYBPC3 G>A	11	47364163	47364163	G	A	MYBPC3	c.1590C>T	NM_000256.3	NP_000247.2:p.(Ser530=)	NC_000011.9:g.47364163G>A	(Likely) benign	1 lab	c617379b86
X:54567739 GNL3L C>T	X	54567739	54567739	C	T	GNL3L	c.223C>T	NM_001184819.2	NP_001171748.1:p.(Arg75Trp)	NC_000023.10:g.54567739C>T	(Likely) benign	1 lab	c619355ad9
6:135778797 AHI1 C>A	6	135778797	135778797	C	A	AHI1	c.986G>T	NM_001134831.1	NP_001128303.1:p.(Arg329Leu)	NC_000006.11:g.135778797C>A	(Likely) benign	1 lab	c61c162650
X:154005125 DKC1 G>A	X	154005125	154005125	G	A	DKC1	c.1528G>A	NM_001363.3	NP_001354.1:p.(Glu510Lys)	NC_000023.10:g.154005125G>A	VUS	1 lab	c61c44f2f8
X:54783740 ITIH6 G>A	X	54783740	54783740	G	A	ITIH6	c.2767C>T	NM_198510.2	NP_940912.1:p.(Leu923Phe)	NC_000023.10:g.54783740G>A	(Likely) benign	1 lab	c61cdf266c
16:29816479 KIF22 T>TG	16	29816479	29816481	T	TG	KIF22	c.1732dup	NM_001256270.1	NP_001243199.1:p.(Glu578GlyfsTer?)	NC_000016.9:g.29816481dup	VUS	1 lab	c61d41c050
6:88234301 RARS2 A>T	6	88234301	88234301	A	T	RARS2	c.423T>A	NM_001350508.1	NP_001337437.1:p.(Ser141Arg)	NC_000006.11:g.88234301A>T	VUS	1 lab	c61d6776ef
2:170028544 LRP2 G>A	2	170028544	170028544	G	A	LRP2	c.11244C>T	NM_004525.3	NP_004516.2:p.(Asn3748=)	NC_000002.11:g.170028544G>A	(Likely) benign	1 lab	c61fa69635
2:55867845 PNPT1 A>G	2	55867845	55867845	A	G	PNPT1	c.2070-5T>C	NM_033109.4	NP_149100.2:p.?	NC_000002.11:g.55867845A>G	(Likely) benign	1 lab	c6208139c3
1:35250550 GJB3 G>A	1	35250550	35250550	G	A	GJB3	c.187G>A	NM_024009.2	NP_076872.1:p.(Val63Ile)	NC_000001.10:g.35250550G>A	(Likely) benign	1 lab	c620e9dffa
X:24329650 SUPT20HL2 C>A	X	24329650	24329650	C	A	SUPT20HL2	c.1861G>T	NM_001136233.2	NP_001129705.2:p.(Val621Leu)	NC_000023.10:g.24329650C>A	VUS	1 lab	c62106e0eb
16:75579361 TMEM231 C>T	16	75579361	75579361	C	T	TMEM231	c.471G>A	NM_001077418.3	NP_001070886.1:p.(Ala157=)	NC_000016.9:g.75579361C>T	(Likely) benign	1 lab	c621932b0b
17:18047912 MYO15A G>C	17	18047912	18047912	G	C	MYO15A	c.6273+6G>C	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18047912G>C	(Likely) benign	1 lab	c6222fd9f0
X:119249421 RHOXF1 G>T	X	119249421	119249421	G	T	RHOXF1	c.352C>A	NM_139282.2	NP_644811.1:p.(Leu118Met)	NC_000023.10:g.119249421G>T	VUS	1 lab	c622a6c6c6
10:16882333 CUBN G>A	10	16882333	16882333	G	A	CUBN	c.10028C>T	NM_001081.3	NP_001072.2:p.(Pro3343Leu)	NC_000010.10:g.16882333G>A	(Likely) benign	1 lab	c623f87103
X:153176187 ARHGAP4 G>C	X	153176187	153176187	G	C	ARHGAP4	c.1903C>G	NM_001164741.1	NP_001158213.1:p.(Pro635Ala)	NC_000023.10:g.153176187G>C	(Likely) benign	1 lab	c62561254f
20:50769162 ZFP64 C>A	20	50769162	50769162	C	A	ZFP64	c.1563G>T	NM_199426.1	NP_955458.1:p.(Pro521=)	NC_000020.10:g.50769162C>A	(Likely) benign	1 lab	c625923fb6
4:6303378 WFS1 C>G	4	6303378	6303378	C	G	WFS1	c.1856C>G	NM_006005.3	NP_005996.2:p.(Ser619Cys)	NC_000004.11:g.6303378C>G	VUS	1 lab	c625c81540
3:30730065 TGFBR2 A>G	3	30730065	30730065	A	G	TGFBR2	c.1599+62A>G	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30730065A>G	(Likely) benign	1 lab	c626d320eb
19:42866254 MEGF8 G>A	19	42866254	42866254	G	A	MEGF8	c.5733G>A	NM_001271938.2	NP_001258867.1:p.(Gly1911=)	NC_000019.9:g.42866254G>A	(Likely) benign	1 lab	c628ea4535
4:71509390 ENAM TA>T	4	71509390	71509392	TA	T	ENAM	c.2249del	NM_031889.3	NP_114095.2:p.(Asn750MetfsTer80)	NC_000004.11:g.71509392del	VUS	1 lab	c62aa5df73
12:8248200 NECAP1 T>C	12	8248200	8248200	T	C	NECAP1	c.680T>C	NM_015509.3	NP_056324.2:p.(Ile227Thr)	NC_000012.11:g.8248200T>C	(Likely) benign	1 lab	c62abcf873
3:49691212 BSN G>A	3	49691212	49691212	G	A	BSN	c.4223G>A	NM_003458.3	NP_003449.2:p.(Arg1408His)	NC_000003.11:g.49691212G>A	(Likely) benign	1 lab	c62adc3e8a
5:77409713 AP3B1 G>A	5	77409713	77409713	G	A	AP3B1	c.1965C>T	NM_001271769.1	NP_001258698.1:p.(Gly655=)	NC_000005.9:g.77409713G>A	VUS	1 lab	c62af9f35e
1:151787451 RORC C>T	1	151787451	151787451	C	T	RORC	c.749G>A	NM_005060.4	NP_005051.2:p.(Ser250Asn)	NC_000001.10:g.151787451C>T	(Likely) benign	1 lab	c62d3a9dbe
9:139399776 NOTCH1 CGCACGCTG>C	9	139399776	139399787	CGCACGCTG	C	NOTCH1	c.4564_4571del	NM_017617.5	NP_060087.3:p.(Gln1522GlyfsTer85)	NC_000009.11:g.139399780_139399787del	(Likely) pathogenic	1 lab	c62d4067df
1:65830319 DNAJC6 T>A	1	65830319	65830319	T	A	DNAJC6	c.24T>A	NM_014787.3	NP_055602.1:p.(Gly8=)	NC_000001.10:g.65830319T>A	(Likely) benign	1 lab	c62de901e4
2:234676504 UGT1A1 C>CGGTA	2	234676504	234676508	C	CGGTA	UGT1A1	c.1007_1010dup	NM_000463.2	NP_000454.1:p.(Tyr337Ter)	NC_000002.11:g.234676505_234676508dup	(Likely) pathogenic	1 lab	c62df78f0d
16:89839759 FANCA G>A	16	89839759	89839759	G	A	FANCA	c.1934C>T	NM_001286167.2	NP_001273096.1:p.(Ser645Phe)	NC_000016.9:g.89839759G>A	(Likely) benign	1 lab	c62e593526
2:170032945 LRP2 T>C	2	170032945	170032945	T	C	LRP2	c.10547A>G	NM_004525.3	NP_004516.2:p.(Gln3516Arg)	NC_000002.11:g.170032945T>C	VUS	1 lab	c62eae6452
3:53164387 RFT1 C>A	3	53164387	53164387	C	A	RFT1	c.30G>T	NM_052859.3	NP_443091.1:p.(Ala10=)	NC_000003.11:g.53164387C>A	(Likely) benign	1 lab	c62fbbf274
4:110667474 CFI C>T	4	110667474	110667474	C	T	CFI	c.1357G>A	NM_001318057.1	NP_001304986.1:p.(Glu453Lys)	NC_000004.11:g.110667474C>T	VUS	1 lab	c630226d9d
22:23523185 BCR C>T	22	23523185	23523185	C	T	BCR	c.38C>T	NM_004327.3	NP_004318.3:p.(Ala13Val)	NC_000022.10:g.23523185C>T	VUS	1 lab	c630a64cf3
2:88926580 EIF2AK3 A>G	2	88926580	88926580	A	G	EIF2AK3	c.213T>C	NM_004836.6	NP_004827.4:p.(Thr71=)	NC_000002.11:g.88926580A>G	(Likely) benign	1 lab	c630e644f8
18:14752659 ANKRD30B G>A	18	14752659	14752659	G	A	ANKRD30B	c.316G>A	NM_001367607.1	NP_001354536.1:p.(Gly106Arg)	NC_000018.9:g.14752659G>A	VUS	1 lab	c63121ea7e
7:299750 FAM20C A>G	7	299750	299750	A	G	FAM20C	c.1559A>G	NM_020223.4	NP_064608.2:p.(Lys520Arg)	NC_000007.13:g.299750A>G	(Likely) benign	1 lab	c631b8cf8a
10:87362075 GRID1 G>A	10	87362075	87362075	G	A	GRID1	c.2985C>T	NM_017551.2	NP_060021.1:p.(Gly995=)	NC_000010.10:g.87362075G>A	(Likely) benign	1 lab	c633f35c5e
19:46274243 DMPK G>A	19	46274243	46274243	G	A	DMPK	c.1753C>T	NM_001081563.2	NP_001075032.1:p.(Leu585=)	NC_000019.9:g.46274243G>A	(Likely) benign	1 lab	c6342cbddc
18:77496516 CTDP1 G>T	18	77496516	77496516	G	T	CTDP1	c.2579G>T	NM_048368.3	NP_430255.2:p.(Gly860Val)	NC_000018.9:g.77496516G>T	(Likely) benign	1 lab	c634581032
20:35540849 SAMHD1 A>C	20	35540849	35540849	A	C	SAMHD1	c.1154+15T>G	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35540849A>C	(Likely) benign	1 lab	c6347e598a
11:836380 CD151 A>G	11	836380	836380	A	G	CD151	c.214A>G	NM_004357.4	NP_004348.2:p.(Met72Val)	NC_000011.9:g.836380A>G	VUS	1 lab	c634bb7703
17:29592234 NF1 A>G	17	29592234	29592234	A	G	NF1	c.4662-13A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29592234A>G	(Likely) benign	1 lab	c6352ee065
16:88494335 ZNF469 C>A	16	88494335	88494335	C	A	ZNF469				NC_000016.9:g.88494335C>A	VUS	1 lab	c6360ebcc9
10:50682275 ERCC6 A>C	10	50682275	50682275	A	C	ERCC6	c.2396T>G	NM_000124.2	NP_000115.1:p.(Leu799Arg)	NC_000010.10:g.50682275A>C	VUS	1 lab	c6366e8788
2:170048373 LRP2 C>A	2	170048373	170048373	C	A	LRP2	c.9001G>T	NM_004525.3	NP_004516.2:p.(Gly3001Cys)	NC_000002.11:g.170048373C>A	VUS	1 lab	c637a0874d
20:10030031 ANKEF1 G>A	20	10030031	10030031	G	A	ANKEF1	c.821-7G>A	NM_022096.6	NP_071379.3:p.?	NC_000020.10:g.10030031G>A	(Likely) benign	1 lab	c63807e7d0
2:179433333 TTN TG>T	2	179433333	179433334	TG	T	TTN	c.77525del	NM_001267550.2	NP_001254479.2:p.(Thr25842LysfsTer45)	NC_000002.11:g.179433334del	(Likely) pathogenic	1 lab	c6384058cd
6:107040160 RTN4IP1 C>A	6	107040160	107040160	C	A	RTN4IP1	c.685G>T	NM_032730.5	NP_116119.2:p.(Asp229Tyr)	NC_000006.11:g.107040160C>A	VUS	1 lab	c6409619d5
2:45801772 SRBD1 C>T	2	45801772	45801772	C	T	SRBD1	c.1163G>A	NM_018079.5	NP_060549.4:p.(Arg388Gln)	NC_000002.11:g.45801772C>T	VUS	1 lab	c639ac04cd
1:7731048 CAMTA1 A>G	1	7731048	7731048	A	G	CAMTA1	c.2730A>G	NM_015215.3	NP_056030.1:p.(Ser910=)	NC_000001.10:g.7731048A>G	(Likely) benign	1 lab	c63a031839
4:5691069 EVC2 A>G	4	5691069	5691069	A	G	EVC2	c.281T>C	NM_001166136.1	NP_001159608.1:p.(Val94Ala)	NC_000004.11:g.5691069A>G	VUS	1 lab	c63bbf96c2
X:41031207 USP9X G>T	X	41031207	41031207	G	T	USP9X	c.3144G>T	NM_001039591.3	NP_001034680.2:p.(Pro1048=)	NC_000023.10:g.41031207G>T	(Likely) benign	1 lab	c63bd3a174
7:80286003 CD36 C>T	7	80286003	80286003	C	T	CD36	c.268C>T	NM_001001548.2	NP_001001548.1:p.(Pro90Ser)	NC_000007.13:g.80286003C>T	(Likely) pathogenic	1 lab	c63cc08007
22:41574458 EP300 C>T	22	41574458	41574458	C	T	EP300	c.6743C>T	NM_001429.3	NP_001420.2:p.(Ala2248Val)	NC_000022.10:g.41574458C>T	(Likely) benign	1 lab	c63ce4554e
17:2577465 PAFAH1B1 G>A	17	2577465	2577465	G	A	PAFAH1B1	c.783G>A	NM_000430.3	NP_000421.1:p.(Trp261Ter)	NC_000017.10:g.2577465G>A	(Likely) pathogenic	1 lab	c63ebdea44
16:71008123 HYDIN C>A	16	71008123	71008123	C	A	HYDIN	c.4990G>T	NM_001270974.2	NP_001257903.1:p.(Gly1664Trp)	NC_000016.9:g.71008123C>A	VUS	1 lab	c64080c4f4
16:56926915 SLC12A3 T>A	16	56926915	56926915	T	A	SLC12A3	c.2497T>A	NM_000339.2	NP_000330.2:p.(Ser833Thr)	NC_000016.9:g.56926915T>A	(Likely) benign	1 lab	c64113c38e
1:27089769 ARID1A C>G	1	27089769	27089769	C	G	ARID1A	c.2725C>G	NM_006015.4	NP_006006.3:p.(Gln909Glu)	NC_000001.10:g.27089769C>G	(Likely) benign	1 lab	c6434b7af9
11:1264539 MUC5B C>G	11	1264539	1264539	C	G	MUC5B	c.6429C>G	NM_002458.2	NP_002449.2:p.(Thr2143=)	NC_000011.9:g.1264539C>G	(Likely) benign	1 lab	c6450e2c3e
19:50728907 MYH14 A>G	19	50728907	50728907	A	G	MYH14	c.783A>G	NM_001145809.1	NP_001139281.1:p.(Thr261=)	NC_000019.9:g.50728907A>G	(Likely) benign	1 lab	c64524b7c7
2:212248358 ERBB4 G>A	2	212248358	212248358	G	A	ERBB4	c.3909C>T	NM_005235.2	NP_005226.1:p.(His1303=)	NC_000002.11:g.212248358G>A	(Likely) benign	1 lab	c6459cac44
9:32500896 RIGI G>C	9	32500896	32500896	G	C	RIGI	c.148C>G	NM_014314.3	NP_055129.2:p.(Pro50Ala)	NC_000009.11:g.32500896G>C	(Likely) benign	1 lab	c647174551
6:76532559 MYO6 G>C	6	76532559	76532559	G	C	MYO6	c.178G>C	NM_004999.3	NP_004990.3:p.(Glu60Gln)	NC_000006.11:g.76532559G>C	VUS	1 lab	c64867faf6
19:58420058 ZNF417 C>A	19	58420058	58420058	C	A	ZNF417	c.1588G>T	NM_152475.3	NP_689688.2:p.(Ala530Ser)	NC_000019.9:g.58420058C>A	(Likely) benign	1 lab	c64d4de6cf
X:73960046 NEXMIF C>T	X	73960046	73960046	C	T	NEXMIF	c.4346G>A	NM_001008537.2	NP_001008537.1:p.(Arg1449His)	NC_000023.10:g.73960046C>T	VUS	1 lab	c650876d90
X:70621470 TAF1 T>C	X	70621470	70621470	T	C	TAF1	c.3939T>C	NM_004606.4	NP_004597.2:p.(Pro1313=)	NC_000023.10:g.70621470T>C	(Likely) benign	1 lab	c652d176e0
22:26422692 MYO18B C>G	22	26422692	26422692	C	G	MYO18B	c.6755C>G	NM_001318245.1	NP_001305174.1:p.(Ser2252Trp)	NC_000022.10:g.26422692C>G	VUS	1 lab	c652fcd370
1:231396302 GNPAT G>C	1	231396302	231396302	G	C	GNPAT	c.311G>C	NM_014236.3	NP_055051.1:p.(Ser104Thr)	NC_000001.10:g.231396302G>C	(Likely) benign	1 lab	c656513a50
8:145582966 SLC52A2 A>T	8	145582966	145582966	A	T	SLC52A2	c.13A>T	NM_024531.4	NP_078807.1:p.(Thr5Ser)	NC_000008.10:g.145582966A>T	VUS	1 lab	c6577322e2
8:100866058 VPS13B T>C	8	100866058	100866058	T	C	VPS13B	c.10516T>C	NM_017890.4	NP_060360.3:p.(Cys3506Arg)	NC_000008.10:g.100866058T>C	(Likely) benign	1 lab	c658553a88
1:7805932 CAMTA1 T>G	1	7805932	7805932	T	G	CAMTA1	c.4398T>G	NM_015215.3	NP_056030.1:p.(Pro1466=)	NC_000001.10:g.7805932T>G	(Likely) benign	1 lab	c65b9f7286
2:202060670 CASP10 C>T	2	202060670	202060670	C	T	CASP10	c.683C>T	NM_032977.3	NP_116759.2:p.(Pro228Leu)	NC_000002.11:g.202060670C>T	(Likely) benign	1 lab	c65d50bfcc
10:17087074 CUBN C>T	10	17087074	17087074	C	T	CUBN	c.3604G>A	NM_001081.3	NP_001072.2:p.(Ala1202Thr)	NC_000010.10:g.17087074C>T	(Likely) benign	1 lab	c65de16585
15:68504102 CLN6 CAG>C	15	68504102	68504106	CAG	C	CLN6	c.395_396del	NM_017882.3	NP_060352.1:p.(Ser132CysfsTer18)	NC_000015.9:g.68504105_68504106del	(Likely) pathogenic	1 lab	c65e20c554
21:47848428 PCNT G>A	21	47848428	47848428	G	A	PCNT	c.7614G>A	NM_006031.5	NP_006022.3:p.(Lys2538=)	NC_000021.8:g.47848428G>A	(Likely) benign	1 lab	c65e7a33cd
21:46932083 COL18A1 G>A	21	46932083	46932083	G	A	COL18A1	c.3801-19G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46932083G>A	VUS	1 lab	c65fcfe003
20:62663287 PRPF6 C>T	20	62663287	62663287	C	T	PRPF6	c.2563C>T	NM_012469.3	NP_036601.2:p.(Arg855Trp)	NC_000020.10:g.62663287C>T	VUS	1 lab	c66078698c
16:2165480 PKD1 C>T	16	2165480	2165480	C	T	PKD1	c.1996G>A	NM_001009944.2	NP_001009944.2:p.(Ala666Thr)	NC_000016.9:g.2165480C>T	(Likely) benign	1 lab	c66122609d
X:29301135 IL1RAPL1 C>T	X	29301135	29301135	C	T	IL1RAPL1	c.163C>T	NM_014271.3	NP_055086.1:p.(Leu55Phe)	NC_000023.10:g.29301135C>T	VUS	1 lab	c662a49660
X:79947606 BRWD3 C>A	X	79947606	79947606	C	A	BRWD3	c.3307G>T	NM_153252.4	NP_694984.4:p.(Glu1103Ter)	NC_000023.10:g.79947606C>A	(Likely) pathogenic	1 lab	c662b6d68c
10:81371716 SFTPA1 C>T	10	81371716	81371716	C	T	SFTPA1	c.135C>T	NM_005411.4	NP_005402.3:p.(Asp45=)	NC_000010.10:g.81371716C>T	(Likely) benign	1 lab	c66355585c
9:96055060 WNK2 C>T	9	96055060	96055060	C	T	WNK2	c.5424C>T	NM_001282394.1	NP_001269323.1:p.(Pro1808=)	NC_000009.11:g.96055060C>T	(Likely) benign	1 lab	c6636c3e0d
17:39021183 KRT12 C>T	17	39021183	39021183	C	T	KRT12	c.682G>A	NM_000223.4	NP_000214.1:p.(Val228Ile)	NC_000017.10:g.39021183C>T	VUS	1 lab	c665f16422
3:124376289 KALRN C>G	3	124376289	124376289	C	G	KALRN	c.5860-6C>G	NM_001024660.4	NP_001019831.2:p.?	NC_000003.11:g.124376289C>G	(Likely) benign	1 lab	c666d6e69c
7:92730881 SAMD9 G>A	7	92730881	92730881	G	A	SAMD9	c.4530C>T	NM_017654.3	NP_060124.2:p.(Ser1510=)	NC_000007.13:g.92730881G>A	(Likely) benign	1 lab	c66722fef0
17:76571122 DNAH17 G>A	17	76571122	76571122	G	A	DNAH17	c.18C>T	NM_173628.3	NP_775899.3:p.(Asp6=)	NC_000017.10:g.76571122G>A	(Likely) benign	1 lab	c66881daf4
18:56936329 RAX G>T	18	56936329	56936329	G	T	RAX	c.948C>A	NM_013435.2	NP_038463.2:p.(Asp316Glu)	NC_000018.9:g.56936329G>T	(Likely) benign	1 lab	c668e83bb0
1:120460330 NOTCH2 CAA>C	1	120460330	120460334	CAA	C	NOTCH2	c.5983_5984del	NM_024408.4	NP_077719.2:p.(Leu1995ValfsTer29)	NC_000001.10:g.120460333_120460334del	(Likely) pathogenic	1 lab	c669c18b11
10:102783728 PDZD7 G>A	10	102783728	102783728	G	A	PDZD7	c.324C>T	NM_001195263.1	NP_001182192.1:p.(Gly108=)	NC_000010.10:g.102783728G>A	(Likely) benign	1 lab	c66bbb1d9c
17:10430054 MYH2 C>T	17	10430054	10430054	C	T	MYH2	c.4049G>A	NM_001100112.1	NP_001093582.1:p.(Arg1350Gln)	NC_000017.10:g.10430054C>T	VUS	1 lab	c66e2ab9ec
X:76938868 ATRX C>T	X	76938868	76938868	C	T	ATRX	c.1880G>A	NM_000489.5	NP_000480.3:p.(Cys627Tyr)	NC_000023.10:g.76938868C>T	(Likely) benign	1 lab	c6749fe186
11:1271401 MUC5B A>G	11	1271401	1271401	A	G	MUC5B	c.13291A>G	NM_002458.2	NP_002449.2:p.(Thr4431Ala)	NC_000011.9:g.1271401A>G	(Likely) benign	1 lab	c674c7d312
16:70889125 HYDIN C>T	16	70889125	70889125	C	T	HYDIN	c.12349G>A	NM_001270974.2	NP_001257903.1:p.(Asp4117Asn)	NC_000016.9:g.70889125C>T	(Likely) benign	1 lab	c675366bb4
6:64694325 EYS C>T	6	64694325	64694325	C	T	EYS	c.7006G>A	NM_001292009.1	NP_001278938.1:p.(Val2336Ile)	NC_000006.11:g.64694325C>T	(Likely) benign	1 lab	c676d2b0eb
5:150924239 FAT2 G>A	5	150924239	150924239	G	A	FAT2	c.6449C>T	NM_001447.2	NP_001438.1:p.(Thr2150Met)	NC_000005.9:g.150924239G>A	(Likely) benign	1 lab	c676eef5d3
19:3589820 GIPC3 T>G	19	3589820	3589820	T	G	GIPC3	c.706-9T>G	NM_133261.2	NP_573568.1:p.?	NC_000019.9:g.3589820T>G	(Likely) benign	1 lab	c67806c980
X:10437756 MID1 G>A	X	10437756	10437756	G	A	MID1	c.1266C>T	NM_001347733.1	NP_001334662.1:p.(Thr422=)	NC_000023.10:g.10437756G>A	(Likely) benign	1 lab	c6797155d9
7:45753516 ADCY1 C>T	7	45753516	45753516	C	T	ADCY1	c.3282C>T	NM_021116.3	NP_066939.1:p.(Gly1094=)	NC_000007.13:g.45753516C>T	(Likely) benign	1 lab	c67b8fd4eb
11:113234603 TTC12 G>A	11	113234603	113234603	G	A	TTC12	c.1320G>A	NM_001352038.1	NP_001338967.1:p.(Thr440=)	NC_000011.9:g.113234603G>A	(Likely) benign	1 lab	c67bc8ab8e
1:243858880 AKT3 A>T	1	243858880	243858880	A	T	AKT3				NC_000001.10:g.243858880A>T	(Likely) benign	1 lab	c67cc0ec80
2:179470251 TTN A>G	2	179470251	179470251	A	G	TTN	c.53771T>C	NM_001267550.1	NP_001254479.1:p.(Val17924Ala)	NC_000002.11:g.179470251A>G	VUS	1 lab	c67cde57b3
9:123837032 C5 C>T	9	123837032	123837032	C	T	C5	c.83G>A	NM_001317163.1	NP_001304092.1:p.(Arg28Lys)	NC_000009.11:g.123837032C>T	VUS	1 lab	c67e983b90
1:27699644 FCN3 C>T	1	27699644	27699644	C	T	FCN3	c.376G>A	NM_003665.2	NP_003656.2:p.(Glu126Lys)	NC_000001.10:g.27699644C>T	(Likely) benign	1 lab	c67f278be4
17:38975178 KRT10 C>A	17	38975178	38975178	C	A	KRT10	c.1609G>T	NM_000421.3	NP_000412.3:p.(Gly537Cys)	NC_000017.10:g.38975178C>A	(Likely) benign	1 lab	c67f481022
7:143018555 CLCN1 C>T	7	143018555	143018555	C	T	CLCN1	c.531C>T	NM_000083.2	NP_000074.2:p.(Leu177=)	NC_000007.13:g.143018555C>T	(Likely) benign	1 lab	c6823c9004
17:27068255 NEK8 G>A	17	27068255	27068255	G	A	NEK8	c.1891+1G>A	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27068255G>A	(Likely) pathogenic	1 lab	c683f77293
2:56104943 EFEMP1 C>T	2	56104943	56104943	C	T	EFEMP1	c.698G>A	NM_001039348.2	NP_001034437.1:p.(Gly233Asp)	NC_000002.11:g.56104943C>T	VUS	1 lab	c68668396d
10:97413131 ALDH18A1 A>G	10	97413131	97413131	A	G	ALDH18A1	c.4T>C	NM_001323413.1	NP_001310342.1:p.(Leu2=)	NC_000010.10:g.97413131A>G	(Likely) benign	1 lab	c68bb01e36
21:43519274 UMODL1 G>A	21	43519274	43519274	G	A	UMODL1	c.954G>A	NM_001199527.1	NP_001186456.1:p.(Thr318=)	NC_000021.8:g.43519274G>A	(Likely) benign	1 lab	c68ca568f3
20:45362424 SLC2A10 A>C	20	45362424	45362424	A	C	SLC2A10	c.1577A>C	NM_030777.3	NP_110404.1:p.(Asn526Thr)	NC_000020.10:g.45362424A>C	(Likely) benign	1 lab	c68e2f7eb7
1:36558035 ADPRS G>A	1	36558035	36558035	G	A	ADPRS	c.714G>A	NM_017825.3	NP_060295.1:p.(Glu238=)	NC_000001.10:g.36558035G>A	(Likely) benign	1 lab	c691b01288
7:6684139 ZNF316 C>T	7	6684139	6684139	C	T	ZNF316	c.621C>T	NM_001278559.2	NP_001265488.1:p.(Ile207=)	NC_000007.13:g.6684139C>T	(Likely) benign	1 lab	c691fba277
15:101791471 CHSY1 T>G	15	101791471	101791471	T	G	CHSY1	c.191A>C	NM_014918.4	NP_055733.2:p.(Asp64Ala)	NC_000015.9:g.101791471T>G	VUS	1 lab	c693b77400
11:3041474 CARS1 C>T	11	3041474	3041474	C	T	CARS1	c.1242G>A	NM_001194997.1	NP_001181926.1:p.(Pro414=)	NC_000011.9:g.3041474C>T	(Likely) benign	1 lab	c696da6167
X:53602746 HUWE1 C>A	X	53602746	53602746	C	A	HUWE1	c.5887G>T	NM_031407.6	NP_113584.3:p.(Asp1963Tyr)	NC_000023.10:g.53602746C>A	VUS	1 lab	c6979f2db0
9:131860562 CRAT A>G	9	131860562	131860562	A	G	CRAT	c.1231T>C	NM_001257363.2	NP_001244292.1:p.(Phe411Leu)	NC_000009.11:g.131860562A>G	VUS	1 lab	c6999e4e53
X:48924731 CCDC120 C>T	X	48924731	48924731	C	T	CCDC120				NC_000023.10:g.48924731C>T	VUS	1 lab	c69a23be02
17:59861548 BRIP1 A>G	17	59861548	59861548	A	G	BRIP1	c.1628+83T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59861548A>G	(Likely) benign	1 lab	7969d7dbb1
2:179579752 TTN C>T	2	179579752	179579752	C	T	TTN	c.26161G>A	NM_001267550.1	NP_001254479.1:p.(Val8721Met)	NC_000002.11:g.179579752C>T	(Likely) benign	1 lab	c69ba84564
1:201974764 RNPEP A>G	1	201974764	201974764	A	G	RNPEP	c.1003A>G	NM_001319183.1	NP_001306112.1:p.(Thr335Ala)	NC_000001.10:g.201974764A>G	VUS	1 lab	c69bd8cdab
8:145024437 PLEC C>T	8	145024437	145024437	C	T	PLEC	c.438G>A	NM_201380.3	NP_958782.1:p.(Glu146=)	NC_000008.10:g.145024437C>T	(Likely) benign	1 lab	c69ce8c7be
5:118829559 HSD17B4 C>T	5	118829559	118829559	C	T	HSD17B4	c.861C>T	NM_001199291.2	NP_001186220.1:p.(His287=)	NC_000005.9:g.118829559C>T	(Likely) benign	1 lab	c69ef57e90
4:126240514 FAT4 C>G	4	126240514	126240514	C	G	FAT4	c.2948C>G	NM_001291303.1	NP_001278232.1:p.(Thr983Arg)	NC_000004.11:g.126240514C>G	VUS	1 lab	c69f8446a1
12:13715930 GRIN2B C>T	12	13715930	13715930	C	T	GRIN2B	c.4242G>A	NM_000834.4	NP_000825.2:p.(Ala1414=)	NC_000012.11:g.13715930C>T	(Likely) benign	1 lab	c6a26d9b57
17:74289887 QRICH2 G>A	17	74289887	74289887	G	A	QRICH2	c.423C>T	NM_032134.2	NP_115510.1:p.(Pro141=)	NC_000017.10:g.74289887G>A	(Likely) benign	1 lab	c6a288f78c
X:30327142 NR0B1 G>T	X	30327142	30327142	G	T	NR0B1	c.339C>A	NM_000475.4	NP_000466.2:p.(Pro113=)	NC_000023.10:g.30327142G>T	(Likely) benign	1 lab	c6a4a858a0
10:112540930 RBM20 A>G	10	112540930	112540930	A	G	RBM20	c.563A>G	NM_001134363.1	NP_001127835.1:p.(Asn188Ser)	NC_000010.10:g.112540930A>G	VUS	1 lab	c6a4d9727a
11:95504805 FAM76B T>A	11	95504805	95504805	T	A	FAM76B	c.940A>T	NM_144664.5	NP_653265.3:p.(Arg314Ter)	NC_000011.9:g.95504805T>A	(Likely) benign	1 lab	c6a57743fc
3:51349945 DOCK3 A>G	3	51349945	51349945	A	G	DOCK3	c.3132A>G	NM_004947.4	NP_004938.1:p.(Ile1044Met)	NC_000003.11:g.51349945A>G	VUS	1 lab	c6a5ad0d4a
2:233390171 PRSS56 G>A	2	233390171	233390171	G	A	PRSS56	c.1767G>A	NM_001195129.1	NP_001182058.1:p.(Gly589=)	NC_000002.11:g.233390171G>A	(Likely) benign	1 lab	c6a612bf1c
16:57685221 ADGRG1 C>T	16	57685221	57685221	C	T	ADGRG1	c.174C>T	NM_005682.6	NP_005673.3:p.(Ile58=)	NC_000016.9:g.57685221C>T	(Likely) benign	1 lab	c6a74a9e28
17:48673978 CACNA1G G>A	17	48673978	48673978	G	A	CACNA1G	c.3035G>A	NM_018896.4	NP_061496.2:p.(Gly1012Asp)	NC_000017.10:g.48673978G>A	(Likely) benign	1 lab	c6aa54ba3e
18:7032077 LAMA1 G>A	18	7032077	7032077	G	A	LAMA1	c.2262C>T	NM_005559.3	NP_005550.2:p.(His754=)	NC_000018.9:g.7032077G>A	(Likely) benign	1 lab	c6ab704fe1
17:29559885 NF1 T>G	17	29559885	29559885	T	G	NF1	c.3482T>G	NM_000267.3	NP_000258.1:p.(Leu1161Arg)	NC_000017.10:g.29559885T>G	VUS	1 lab	c6abce860b
16:89346353 ANKRD11 G>C	16	89346353	89346353	G	C	ANKRD11	c.6597C>G	NM_001256182.1	NP_001243111.1:p.(Leu2199=)	NC_000016.9:g.89346353G>C	(Likely) benign	1 lab	c6ae61bca3
15:82431131 EFL1 T>C	15	82431131	82431131	T	C	EFL1	c.3042A>G	NM_001322845.1	NP_001309774.1:p.(Glu1014=)	NC_000015.9:g.82431131T>C	(Likely) benign	1 lab	c6aecd57b2
19:36220125 KMT2B G>T	19	36220125	36220125	G	T	KMT2B	c.4845G>T	NM_014727.2	NP_055542.1:p.(Ser1615=)	NC_000019.9:g.36220125G>T	(Likely) benign	1 lab	c6af308d1e
9:71851040 TJP2 C>G	9	71851040	71851040	C	G	TJP2	c.1877C>G	NM_004817.4	NP_004808.2:p.(Thr626Ser)	NC_000009.11:g.71851040C>G	(Likely) benign	1 lab	c6b12cb60d
X:48681962 HDAC6 G>A	X	48681962	48681962	G	A	HDAC6	c.3153G>A	NM_001321226.1	NP_001308155.1:p.(Gly1051=)	NC_000023.10:g.48681962G>A	(Likely) benign	1 lab	c6b31b5139
7:47876597 PKD1L1 C>T	7	47876597	47876597	C	T	PKD1L1	c.5865G>A	NM_138295.4	NP_612152.1:p.(Pro1955=)	NC_000007.13:g.47876597C>T	(Likely) benign	1 lab	c6b3af677a
10:55782853 PCDH15 C>T	10	55782853	55782853	C	T	PCDH15				NC_000010.10:g.55782853C>T	(Likely) benign	1 lab	c6b452da0b
11:65306859 LTBP3 C>T	11	65306859	65306859	C	T	LTBP3	c.3700G>A	NM_001130144.2	NP_001123616.1:p.(Gly1234Ser)	NC_000011.9:g.65306859C>T	VUS	1 lab	c6b6a4afa8
X:99921778 SRPX2 C>T	X	99921778	99921778	C	T	SRPX2	c.809C>T	NM_014467.2	NP_055282.1:p.(Pro270Leu)	NC_000023.10:g.99921778C>T	(Likely) benign	1 lab	c6ba5be997
6:33148765 COL11A2 C>G	6	33148765	33148765	C	G	COL11A2	c.1197G>C	NM_080680.2	NP_542411.2:p.(Gly399=)	NC_000006.11:g.33148765C>G	(Likely) benign	1 lab	c6bb3c599f
17:38285733 MSL1 C>T	17	38285733	38285733	C	T	MSL1	c.439C>T	NM_001012241.2	NP_001012241.1:p.(His147Tyr)	NC_000017.10:g.38285733C>T	VUS	1 lab	c6bb8a5fd8
6:107955168 SOBP C>T	6	107955168	107955168	C	T	SOBP	c.1120C>T	NM_018013.3	NP_060483.3:p.(Pro374Ser)	NC_000006.11:g.107955168C>T	VUS	1 lab	c6be44681d
12:113537871 RASAL1 C>A	12	113537871	113537871	C	A	RASAL1	c.2278G>T	NM_004658.2	NP_004649.2:p.(Ala760Ser)	NC_000012.11:g.113537871C>A	(Likely) benign	1 lab	c6bed14bed
17:29560178 NF1 G>C	17	29560178	29560178	G	C	NF1	c.3655G>C	NM_000267.3	NP_000258.1:p.(Gly1219Arg)	NC_000017.10:g.29560178G>C	VUS	1 lab	c6c022e540
19:38954391 RYR1 G>A	19	38954391	38954391	G	A	RYR1	c.2687G>A	NM_000540.2	NP_000531.2:p.(Arg896Gln)	NC_000019.9:g.38954391G>A	VUS	1 lab	c6c1e0189b
2:170019018 LRP2 C>T	2	170019018	170019018	C	T	LRP2	c.11851G>A	NM_004525.3	NP_004516.2:p.(Asp3951Asn)	NC_000002.11:g.170019018C>T	VUS	1 lab	c6c5200236
8:100844875 VPS13B T>C	8	100844875	100844875	T	C	VPS13B	c.9684T>C	NM_017890.4	NP_060360.3:p.(Cys3228=)	NC_000008.10:g.100844875T>C	(Likely) benign	1 lab	c6c56509f4
4:187549364 FAT1 G>A	4	187549364	187549364	G	A	FAT1	c.4754C>T	NM_005245.3	NP_005236.2:p.(Thr1585Met)	NC_000004.11:g.187549364G>A	VUS	1 lab	c6c5b5904a
2:179441724 TTN C>T	2	179441724	179441724	C	T	TTN	c.69338G>A	NM_001267550.1	NP_001254479.1:p.(Arg23113Gln)	NC_000002.11:g.179441724C>T	VUS	1 lab	c6c64db372
13:52515302 ATP7B G>A	13	52515302	52515302	G	A	ATP7B	c.3471C>T	NM_000053.3	NP_000044.2:p.(Asn1157=)	NC_000013.10:g.52515302G>A	(Likely) benign	1 lab	c6c7f8f632
14:102431106 DYNC1H1 C>T	14	102431106	102431106	C	T	DYNC1H1	c.78C>T	NM_001376.4	NP_001367.2:p.(Asp26=)	NC_000014.8:g.102431106C>T	(Likely) benign	1 lab	c6c8572ec0
X:129765508 ENOX2 C>T	X	129765508	129765508	C	T	ENOX2	c.1549G>A	NM_182314.2	NP_872114.1:p.(Glu517Lys)	NC_000023.10:g.129765508C>T	(Likely) benign	1 lab	c6cafa8f5a
2:202591521 ALS2 A>AG	2	202591521	202591527	A	AG	ALS2	c.3047dup	NM_020919.3	NP_065970.2:p.(Tyr1017LeufsTer5)	NC_000002.11:g.202591527dup	(Likely) pathogenic	1 lab	c6cd7627b5
X:153038720 PLXNB3 G>A	X	153038720	153038720	G	A	PLXNB3	c.3011G>A	NM_001163257.1	NP_001156729.1:p.(Arg1004His)	NC_000023.10:g.153038720G>A	(Likely) benign	1 lab	c6ce5ebd9a
17:36482742 GPR179 G>A	17	36482742	36482742	G	A	GPR179	c.6710C>T	NM_001004334.3	NP_001004334.3:p.(Thr2237Ile)	NC_000017.10:g.36482742G>A	(Likely) benign	1 lab	c6cf3154ca
9:135173563 SETX CAG>C	9	135173563	135173568	CAG	C	SETX	c.5683_5684del	NM_015046.7	NP_055861.3:p.(Leu1895ValfsTer3)	NC_000009.11:g.135173567_135173568del	(Likely) pathogenic	1 lab	c6cf7f3f87
7:141763311 MGAM C>A	7	141763311	141763311	C	A	MGAM	c.4270C>A	NM_004668.2	NP_004659.2:p.(Pro1424Thr)	NC_000007.13:g.141763311C>A	(Likely) benign	1 lab	c6d166d32a
1:170928637 MROH9 T>C	1	170928637	170928637	T	C	MROH9	c.187T>C	NM_001163629.1	NP_001157101.1:p.(Leu63=)	NC_000001.10:g.170928637T>C	(Likely) benign	1 lab	c6d3606f97
1:164769118 PBX1 G>C	1	164769118	164769118	G	C	PBX1	c.693G>C	NM_002585.3	NP_002576.1:p.(Leu231=)	NC_000001.10:g.164769118G>C	(Likely) benign	1 lab	c6d6390074
11:67219462 GPR152 G>A	11	67219462	67219462	G	A	GPR152	c.734C>T	NM_206997.1	NP_996880.1:p.(Ala245Val)	NC_000011.9:g.67219462G>A	VUS	1 lab	c6d93ffacd
11:117859201 IL10RA G>A	11	117859201	117859201	G	A	IL10RA	c.172G>A	NM_001558.3	NP_001549.2:p.(Glu58Lys)	NC_000011.9:g.117859201G>A	VUS	1 lab	c6d9ae6474
X:2853158 ARSL T>G	X	2853158	2853158	T	G	ARSL	c.1560A>C	NM_001282628.1	NP_001269557.1:p.(Arg520Ser)	NC_000023.10:g.2853158T>G	(Likely) benign	1 lab	c6da5ff944
6:170169742 ERMARD A>G	6	170169742	170169742	A	G	ERMARD	c.1166A>G	NM_018341.2	NP_060811.1:p.(Gln389Arg)	NC_000006.11:g.170169742A>G	(Likely) benign	1 lab	c6dac5c5fa
12:10279220 CLEC7A T>A	12	10279220	10279220	T	A	CLEC7A	c.290A>T	NM_197947.2	NP_922938.1:p.(Gln97Leu)	NC_000012.11:g.10279220T>A	VUS	1 lab	c6dbddacf3
1:11319587 MTOR A>G	1	11319587	11319587	A	G	MTOR	c.-14-107T>C	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11319587A>G	(Likely) benign	1 lab	c6dd516671
5:38949458 RICTOR C>T	5	38949458	38949458	C	T	RICTOR	c.4208G>A	NM_001285439.1	NP_001272368.1:p.(Arg1403Lys)	NC_000005.9:g.38949458C>T	VUS	1 lab	c6dd67a3db
X:82763721 POU3F4 C>A	X	82763721	82763721	C	A	POU3F4	c.389C>A	NM_000307.4	NP_000298.3:p.(Pro130His)	NC_000023.10:g.82763721C>A	VUS	1 lab	c6df8d3277
22:26873008 HPS4 C>T	22	26873008	26873008	C	T	HPS4	c.227G>A	NM_001349898.1	NP_001336827.1:p.(Arg76His)	NC_000022.10:g.26873008C>T	VUS	1 lab	c6e01b2fb3
X:48759647 PQBP1 C>T	X	48759647	48759647	C	T	PQBP1	c.430C>T	NM_005710.2	NP_005701.1:p.(Arg144Cys)	NC_000023.10:g.48759647C>T	VUS	1 lab	c6e0a29780
4:88537513 DSPP A>AAGCAGCGACAGCAGTGAC	4	88537513	88537539	A	AAGCAGCGACAGCAGTGAC	DSPP	c.3708_3725dup	NM_014208.3	NP_055023.2:p.(Asp1242_Ser1247dup)	NC_000004.11:g.88537522_88537539dup	(Likely) benign	1 lab	c6e22af640
11:34485691 CAT C>T	11	34485691	34485691	C	T	CAT	c.1235C>T	NM_001752.3	NP_001743.1:p.(Pro412Leu)	NC_000011.9:g.34485691C>T	VUS	1 lab	c6e3a21026
9:36376107 RNF38 A>T	9	36376107	36376107	A	T	RNF38	c.180T>A	NM_022781.5	NP_073618.3:p.(Ser60Arg)	NC_000009.11:g.36376107A>T	VUS	1 lab	c6e4f36174
18:60052119 TNFRSF11A G>A	18	60052119	60052119	G	A	TNFRSF11A	c.1661G>A	NM_001278268.1	NP_001265197.1:p.(Arg554His)	NC_000018.9:g.60052119G>A	(Likely) benign	1 lab	c6e5414d77
X:83724039 HDX T>C	X	83724039	83724039	T	C	HDX	c.692A>G	NM_001177479.2	NP_001170950.1:p.(Tyr231Cys)	NC_000023.10:g.83724039T>C	VUS	1 lab	c6e5543460
21:47775540 PCNT A>G	21	47775540	47775540	A	G	PCNT	c.1935A>G	NM_006031.5	NP_006022.3:p.(Gln645=)	NC_000021.8:g.47775540A>G	VUS	1 lab	c6e6b504dc
X:154088736 F8 T>C	X	154088736	154088736	T	C	F8	c.6871A>G	NM_000132.3	NP_000123.1:p.(Thr2291Ala)	NC_000023.10:g.154088736T>C	VUS	1 lab	c6e6cc07fa
2:215645395 BARD1 A>G	2	215645395	215645395	A	G	BARD1	c.1203T>C	NM_000465.4	NP_000456.2:p.(Ser401=)	NC_000002.11:g.215645395A>G	(Likely) benign	1 lab	c6e80c9cd8
1:186281400 PRG4 C>T	1	186281400	186281400	C	T	PRG4	c.3887C>T	NM_005807.4	NP_005798.3:p.(Thr1296Met)	NC_000001.10:g.186281400C>T	(Likely) benign	1 lab	c6e932c07c
16:2136202 TSC2 C>T	16	2136202	2136202	C	T	TSC2	c.4671C>T	NM_000548.3	NP_000539.2:p.(Ser1557=)	NC_000016.9:g.2136202C>T	(Likely) benign	1 lab	c6eb4c3906
15:74474699 STRA6 G>T	15	74474699	74474699	G	T	STRA6	c.1520C>A	NM_001199042.1	NP_001185971.1:p.(Ser507Tyr)	NC_000015.9:g.74474699G>T	(Likely) benign	1 lab	c6eb96eb1f
13:110826975 COL4A1 T>G	13	110826975	110826975	T	G	COL4A1	c.3320A>C	NM_001845.5	NP_001836.3:p.(Tyr1107Ser)	NC_000013.10:g.110826975T>G	VUS	1 lab	c6ec5f4b8b
11:12883870 TEAD1 A>G	11	12883870	12883870	A	G	TEAD1	c.267+9A>G	NM_021961.5	NP_068780.2:p.?	NC_000011.9:g.12883870A>G	(Likely) benign	1 lab	c6ee6f2f16
10:26491895 MYO3A A>T	10	26491895	26491895	A	T	MYO3A	c.4589A>T	NM_017433.5	NP_059129.3:p.(Gln1530Leu)	NC_000010.10:g.26491895A>T	VUS	1 lab	c6f0d072c1
10:61552762 CCDC6 C>CGGAGGT	10	61552762	61552773	C	CGGAGGT	CCDC6	c.1332_1337dup	NM_005436.4	NP_005427.2:p.(Pro447_Pro448dup)	NC_000010.10:g.61552768_61552773dup	(Likely) benign	1 lab	c6f1de548a
11:1270841 MUC5B C>T	11	1270841	1270841	C	T	MUC5B	c.12731C>T	NM_002458.2	NP_002449.2:p.(Pro4244Leu)	NC_000011.9:g.1270841C>T	(Likely) benign	1 lab	c6f1fda7fb
X:153175501 ARHGAP4 G>A	X	153175501	153175501	G	A	ARHGAP4	c.2315C>T	NM_001164741.1	NP_001158213.1:p.(Pro772Leu)	NC_000023.10:g.153175501G>A	(Likely) benign	1 lab	c6f3367334
X:109441769 AMMECR1 C>T	X	109441769	109441769	C	T	AMMECR1	c.612G>A	NM_001171689.1	NP_001165160.1:p.(Pro204=)	NC_000023.10:g.109441769C>T	(Likely) benign	1 lab	c6f40ca0c2
X:69773194 TEX11 G>C	X	69773194	69773194	G	C	TEX11	c.2406C>G	NM_001003811.1	NP_001003811.1:p.(Leu802=)	NC_000023.10:g.69773194G>C	(Likely) benign	1 lab	c6f5ee8ad3
16:2129495 TSC2 A>G	16	2129495	2129495	A	G	TSC2	c.3285-63A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129495A>G	(Likely) benign	1 lab	c6f620469b
19:50365939 PNKP G>A	19	50365939	50365939	G	A	PNKP	c.865+8C>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50365939G>A	(Likely) benign	1 lab	c6f842e30b
3:132244540 DNAJC13 C>A	3	132244540	132244540	C	A	DNAJC13	c.6162C>A	NM_001329126.1	NP_001316055.1:p.(Gly2054=)	NC_000003.11:g.132244540C>A	(Likely) benign	1 lab	c6f96c0e3b
7:2946283 CARD11 C>T	7	2946283	2946283	C	T	CARD11	c.3454G>A	NM_001324281.1	NP_001311210.1:p.(Asp1152Asn)	NC_000007.13:g.2946283C>T	VUS	1 lab	c6f9bd8968
1:197070521 ASPM C>G	1	197070521	197070521	C	G	ASPM	c.7860G>C	NM_018136.4	NP_060606.3:p.(Gln2620His)	NC_000001.10:g.197070521C>G	(Likely) benign	1 lab	c6fb93657d
13:20763585 GJB2 C>A	13	20763585	20763585	C	A	GJB2	c.136G>T	NM_004004.6	NP_003995.2:p.(Asp46Tyr)	NC_000013.10:g.20763585C>A	VUS	1 lab	c6fd8fa8e3
3:49455039 AMT C>A	3	49455039	49455039	C	A	AMT	c.1146G>T	NM_000481.3	NP_000472.2:p.(Arg382=)	NC_000003.11:g.49455039C>A	(Likely) benign	1 lab	c7002437a1
11:45955711 PHF21A C>T	11	45955711	45955711	C	T	PHF21A	c.1851G>A	NM_001101802.1	NP_001095272.1:p.(Lys617=)	NC_000011.9:g.45955711C>T	(Likely) benign	1 lab	c70305228f
2:175446141 WIPF1 A>G	2	175446141	175446141	A	G	WIPF1	c.78T>C	NM_001077269.1	NP_001070737.1:p.(Asn26=)	NC_000002.11:g.175446141A>G	(Likely) benign	1 lab	c706964453
X:122805559 THOC2 T>C	X	122805559	122805559	T	C	THOC2	c.822A>G	NM_001081550.1	NP_001075019.1:p.(Leu274=)	NC_000023.10:g.122805559T>C	(Likely) benign	1 lab	c706af09ae
2:186657147 FSIP2 T>G	2	186657147	186657147	T	G	FSIP2	c.5284T>G	NM_173651.3	NP_775922.3:p.(Leu1762Val)	NC_000002.11:g.186657147T>G	VUS	1 lab	c70a2cb2b7
19:45856357 ERCC2 G>A	19	45856357	45856357	G	A	ERCC2	c.1815C>T	NM_000400.3	NP_000391.1:p.(Ser605=)	NC_000019.9:g.45856357G>A	(Likely) benign	1 lab	c70a463a22
19:45856408 ERCC2 G>A	19	45856408	45856408	G	A	ERCC2	c.1764C>T	NM_000400.3	NP_000391.1:p.(Cys588=)	NC_000019.9:g.45856408G>A	(Likely) benign	1 lab	c70c158ff4
4:15542495 CC2D2A G>A	4	15542495	15542495	G	A	CC2D2A	c.2039G>A	NM_001080522.2	NP_001073991.2:p.(Arg680His)	NC_000004.11:g.15542495G>A	(Likely) benign	1 lab	c70c5adfa7
20:57429208 GNAS G>A	20	57429208	57429208	G	A	GNAS	c.701G>A	NM_001077490.2	NP_001070958.1:p.(Arg234Gln)	NC_000020.10:g.57429208G>A	(Likely) benign	1 lab	c70c80d21e
18:67816125 RTTN C>T	18	67816125	67816125	C	T	RTTN	c.2309+12G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67816125C>T	(Likely) benign	1 lab	c70cd3ef05
17:17699065 RAI1 G>A	17	17699065	17699065	G	A	RAI1	c.2803G>A	NM_030665.3	NP_109590.3:p.(Glu935Lys)	NC_000017.10:g.17699065G>A	(Likely) benign	1 lab	c70d62b4ca
18:32459674 DTNA G>A	18	32459674	32459674	G	A	DTNA	c.2072G>A	NM_001390.4	NP_001381.2:p.(Arg691His)	NC_000018.9:g.32459674G>A	(Likely) benign	1 lab	c70d8347a5
8:100443886 VPS13B A>G	8	100443886	100443886	A	G	VPS13B	c.3204A>G	NM_017890.4	NP_060360.3:p.(Thr1068=)	NC_000008.10:g.100443886A>G	(Likely) benign	1 lab	c70e1ddf81
20:34458965 PHF20 T>G	20	34458965	34458965	T	G	PHF20	c.1011T>G	NM_016436.5	NP_057520.2:p.(His337Gln)	NC_000020.10:g.34458965T>G	(Likely) benign	1 lab	c7115e0370
10:123279566 FGFR2 T>G	10	123279566	123279566	T	G	FGFR2	c.866A>C	NM_000141.4	NP_000132.3:p.(Gln289Pro)	NC_000010.10:g.123279566T>G	(Likely) pathogenic	1 lab	c711f51262
1:175097739 TNN C>A	1	175097739	175097739	C	A	TNN	c.3187C>A	NM_022093.1	NP_071376.1:p.(Arg1063Ser)	NC_000001.10:g.175097739C>A	VUS	1 lab	c7136cc357
18:7007142 LAMA1 C>CACTT	18	7007142	7007146	C	CACTT	LAMA1	c.4252_4255dup	NM_005559.3	NP_005550.2:p.(Cys1419Ter)	NC_000018.9:g.7007143_7007146dup	(Likely) pathogenic	1 lab	c7139e99a0
3:52830584 ITIH3 G>A	3	52830584	52830584	G	A	ITIH3	c.202G>A	NM_002217.3	NP_002208.3:p.(Val68Ile)	NC_000003.11:g.52830584G>A	(Likely) benign	1 lab	c715350aad
14:23243298 SLC7A7 A>G	14	23243298	23243298	A	G	SLC7A7	c.1273T>C	NM_001126106.2	NP_001119578.1:p.(Cys425Arg)	NC_000014.8:g.23243298A>G	VUS	1 lab	c715a54ba9
19:18174720 IL12RB1 C>T	19	18174720	18174720	C	T	IL12RB1	c.1704G>A	NM_001290024.1	NP_001276953.1:p.(Arg568=)	NC_000019.9:g.18174720C>T	(Likely) benign	1 lab	c717452a31
X:52893917 XAGE3 T>A	X	52893917	52893917	T	A	XAGE3	c.200A>T	NM_133179.3	NP_573440.1:p.(Glu67Val)	NC_000023.10:g.52893917T>A	VUS	1 lab	c718e8fae0
8:68031034 CSPP1 C>A	8	68031034	68031034	C	A	CSPP1	c.1594C>A	NM_001363131.1	NP_001350060.1:p.(His532Asn)	NC_000008.10:g.68031034C>A	VUS	1 lab	c719711ac8
5:121413463 LOX C>T	5	121413463	121413463	C	T	LOX	c.218G>A	NM_002317.6	NP_002308.2:p.(Gly73Asp)	NC_000005.9:g.121413463C>T	(Likely) benign	1 lab	c71b0c3dc9
X:70320932 FOXO4 A>T	X	70320932	70320932	A	T	FOXO4	c.852A>T	NM_005938.3	NP_005929.2:p.(Glu284Asp)	NC_000023.10:g.70320932A>T	(Likely) benign	1 lab	c71c5c620b
3:127336130 MCM2 C>T	3	127336130	127336130	C	T	MCM2	c.1782C>T	NM_004526.3	NP_004517.2:p.(Asp594=)	NC_000003.11:g.127336130C>T	(Likely) benign	1 lab	c71d4f641e
19:42385009 CD79A A>G	19	42385009	42385009	A	G	CD79A	c.643A>G	NM_001783.3	NP_001774.1:p.(Ser215Gly)	NC_000019.9:g.42385009A>G	(Likely) benign	1 lab	c71d815202
17:26857842 FOXN1 G>A	17	26857842	26857842	G	A	FOXN1	c.906G>A	NM_003593.2	NP_003584.2:p.(Thr302=)	NC_000017.10:g.26857842G>A	(Likely) benign	1 lab	c71dd04d6e
10:102768226 PDZD7 A>G	10	102768226	102768226	A	G	PDZD7	c.3100T>C	NM_001195263.1	NP_001182192.1:p.(Ter1034ArgextTer4)	NC_000010.10:g.102768226A>G	VUS	1 lab	c71f077eac
16:14340785 MISSING C>G	16	14340785	14340785	C	G	MISSING				NC_000016.9:g.14340785C>G	(Likely) benign	1 lab	c71fbd841a
14:76928955 ESRRB C>T	14	76928955	76928955	C	T	ESRRB	c.465C>T	NM_004452.3	NP_004443.3:p.(Cys155=)	NC_000014.8:g.76928955C>T	(Likely) benign	1 lab	c71fe1259d
1:152186196 HRNR G>A	1	152186196	152186196	G	A	HRNR	c.7909C>T	NM_001009931.2	NP_001009931.1:p.(Arg2637Cys)	NC_000001.10:g.152186196G>A	VUS	1 lab	c7233b2d89
12:49440101 KMT2D T>C	12	49440101	49440101	T	C	KMT2D	c.4525A>G	NM_003482.3	NP_003473.3:p.(Ile1509Val)	NC_000012.11:g.49440101T>C	(Likely) benign	1 lab	c723cc5ff6
18:6971905 LAMA1 G>A	18	6971905	6971905	G	A	LAMA1	c.6850C>T	NM_005559.3	NP_005550.2:p.(Leu2284=)	NC_000018.9:g.6971905G>A	(Likely) benign	1 lab	c724b860d1
19:22155808 ZNF208 C>G	19	22155808	22155808	C	G	ZNF208	c.2028G>C	NM_007153.3	NP_009084.2:p.(Lys676Asn)	NC_000019.9:g.22155808C>G	VUS	1 lab	c727626c67
1:235969528 LYST T>G	1	235969528	235969528	T	G	LYST	c.2908A>C	NM_001301365.1	NP_001288294.1:p.(Ile970Leu)	NC_000001.10:g.235969528T>G	(Likely) benign	1 lab	c728618eab
X:37029417 FAM47C A>G	X	37029417	37029417	A	G	FAM47C	c.2934A>G	NM_001013736.2	NP_001013758.1:p.(Gly978=)	NC_000023.10:g.37029417A>G	(Likely) benign	1 lab	c72977f0f1
7:19156636 TWIST1 G>C	7	19156636	19156636	G	C	TWIST1	c.309C>G	NM_000474.3	NP_000465.1:p.(Tyr103Ter)	NC_000007.13:g.19156636G>C	(Likely) pathogenic	1 lab	c729dd0bad
11:59282824 OR4D9 G>T	11	59282824	59282824	G	T	OR4D9	c.439G>T	NM_001004711.1	NP_001004711.1:p.(Ala147Ser)	NC_000011.9:g.59282824G>T	VUS	1 lab	c72adac74b
15:23890737 MAGEL2 G>C	15	23890737	23890737	G	C	MAGEL2	c.2153C>G	NM_019066.4	NP_061939.3:p.(Ser718Ter)	NC_000015.9:g.23890737G>C	(Likely) pathogenic	1 lab	c72d8e81b6
15:40921546 KNL1 C>T	15	40921546	40921546	C	T	KNL1	c.5737C>T	NM_170589.4	NP_733468.3:p.(Arg1913Ter)	NC_000015.9:g.40921546C>T	VUS	1 lab	c72e4db043
19:5696738 LONP1 C>T	19	5696738	5696738	C	T	LONP1	c.1716G>A	NM_004793.3	NP_004784.2:p.(Lys572=)	NC_000019.9:g.5696738C>T	(Likely) benign	1 lab	c72f0bd2dd
12:1034679 RAD52 A>G	12	1034679	1034679	A	G	RAD52	c.631T>C	NM_001297420.1	NP_001284349.1:p.(Cys211Arg)	NC_000012.11:g.1034679A>G	(Likely) benign	1 lab	c72f3a229d
11:17482154 ABCC8 G>A	11	17482154	17482154	G	A	ABCC8	c.892C>T	NM_001351295.1	NP_001338224.1:p.(Arg298Cys)	NC_000011.9:g.17482154G>A	(Likely) benign	1 lab	c72fbafb4a
1:237802451 RYR2 G>A	1	237802451	237802451	G	A	RYR2	c.7065G>A	NM_001035.2	NP_001026.2:p.(Glu2355=)	NC_000001.10:g.237802451G>A	(Likely) benign	1 lab	c7334f0269
2:179395343 TTN C>T	2	179395343	179395343	C	T	TTN	c.105999G>A	NM_001267550.1	NP_001254479.1:p.(Gln35333=)	NC_000002.11:g.179395343C>T	(Likely) benign	1 lab	c7355fc21d
12:66765693 GRIP1 C>T	12	66765693	66765693	C	T	GRIP1	c.2637G>A	NM_021150.3	NP_066973.2:p.(Ser879=)	NC_000012.11:g.66765693C>T	(Likely) benign	1 lab	c736f2e00a
9:134381806 POMT1 C>T	9	134381806	134381806	C	T	POMT1	c.139C>T	NM_001353196.1	NP_001340125.1:p.(Arg47Ter)	NC_000009.11:g.134381806C>T	VUS	1 lab	c7379fd20b
17:29585520 NF1 GGTGAATTATTT>G	17	29585520	29585531	GGTGAATTATTT	G	NF1	c.4332+1_4332+11del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29585521_29585531del	(Likely) pathogenic	1 lab	c73808e1ee
7:100684005 MUC17 G>A	7	100684005	100684005	G	A	MUC17	c.9308G>A	NM_001040105.1	NP_001035194.1:p.(Gly3103Glu)	NC_000007.13:g.100684005G>A	(Likely) benign	1 lab	c73838a0db
15:45392257 DUOX2 G>A	15	45392257	45392257	G	A	DUOX2	c.3175C>T	NM_014080.4	NP_054799.4:p.(Arg1059Cys)	NC_000015.9:g.45392257G>A	VUS	1 lab	c738823256
20:45354837 SLC2A10 C>T	20	45354837	45354837	C	T	SLC2A10	c.1162C>T	NM_030777.3	NP_110404.1:p.(Arg388Trp)	NC_000020.10:g.45354837C>T	(Likely) benign	1 lab	c73a43c819
19:4546243 SEMA6B A>C	19	4546243	4546243	A	C	SEMA6B	c.1723T>G	NM_032108.4	NP_115484.2:p.(Leu575Val)	NC_000019.9:g.4546243A>C	(Likely) benign	1 lab	c73a50d6d3
X:129203412 ELF4 C>T	X	129203412	129203412	C	T	ELF4	c.1050G>A	NM_001421.3	NP_001412.1:p.(Lys350=)	NC_000023.10:g.129203412C>T	(Likely) benign	1 lab	c73bd081cc
X:70443999 GJB1 G>A	X	70443999	70443999	G	A	GJB1	c.442G>A	NM_000166.5	NP_000157.1:p.(Val148Ile)	NC_000023.10:g.70443999G>A	(Likely) benign	1 lab	c73be19ced
19:7606405 PNPLA6 C>CA	19	7606405	7606406	C	CA	PNPLA6	c.1033-2dup	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7606406dup	(Likely) pathogenic	1 lab	c73df4b101
8:145738640 RECQL4 G>A	8	145738640	145738640	G	A	RECQL4	c.2424C>T	NM_004260.3	NP_004251.3:p.(Asp808=)	NC_000008.10:g.145738640G>A	(Likely) benign	1 lab	c73e018e9a
4:79369380 FRAS1 G>A	4	79369380	79369380	G	A	FRAS1	c.6184G>A	NM_025074.7	NP_079350.5:p.(Val2062Met)	NC_000004.11:g.79369380G>A	VUS	1 lab	c73f7c496b
15:57524926 TCF12 C>G	15	57524926	57524926	C	G	TCF12	c.842C>G	NM_207037.1	NP_996920.1:p.(Ser281Ter)	NC_000015.9:g.57524926C>G	(Likely) pathogenic	1 lab	c742fa7bc4
2:48025863 MSH6 A>AC	2	48025863	48025864	A	AC	MSH6	c.742dup	NM_000179.2	NP_000170.1:p.(Arg248ProfsTer8)	NC_000002.11:g.48025864dup	(Likely) pathogenic	1 lab	c744c60576
12:66932931 GRIP1 G>A	12	66932931	66932931	G	A	GRIP1	c.345C>T	NM_001366722.1	NP_001353651.1:p.(Asp115=)	NC_000012.11:g.66932931G>A	(Likely) benign	1 lab	c74570ce73
9:131388218 SPTAN1 CAAG>C	9	131388218	131388227	CAAG	C	SPTAN1	c.6247_6249del	NM_001130438.3	NP_001123910.1:p.(Lys2083del)	NC_000009.11:g.131388225_131388227del	VUS	1 lab	c745abb9b2
2:170070233 LRP2 C>T	2	170070233	170070233	C	T	LRP2	c.5974G>A	NM_004525.3	NP_004516.2:p.(Ala1992Thr)	NC_000002.11:g.170070233C>T	(Likely) benign	1 lab	c7475d6d80
15:51293342 AP4E1 T>A	15	51293342	51293342	T	A	AP4E1	c.2990T>A	NM_001252127.1	NP_001239056.1:p.(Leu997Gln)	NC_000015.9:g.51293342T>A	VUS	1 lab	c7479d6b87
16:88712514 CYBA C>T	16	88712514	88712514	C	T	CYBA				NC_000016.9:g.88712514C>T	(Likely) benign	1 lab	c748deb820
7:19156581 TWIST1 G>A	7	19156581	19156581	G	A	TWIST1	c.364C>T	NM_000474.3	NP_000465.1:p.(Gln122Ter)	NC_000007.13:g.19156581G>A	(Likely) pathogenic	1 lab	c749dee951
2:179438272 TTN C>T	2	179438272	179438272	C	T	TTN	c.72587G>A	NM_001267550.1	NP_001254479.1:p.(Arg24196His)	NC_000002.11:g.179438272C>T	VUS	1 lab	c74a2ab04d
14:23896831 MYH7 G>A	14	23896831	23896831	G	A	MYH7	c.1851C>T	NM_000257.2	NP_000248.2:p.(Leu617=)	NC_000014.8:g.23896831G>A	(Likely) benign	1 lab	c74aaf9490
4:169842797 PALLD T>C	4	169842797	169842797	T	C	PALLD	c.2963T>C	NM_001166108.2	NP_001159580.1:p.(Ile988Thr)	NC_000004.11:g.169842797T>C	VUS	1 lab	c74bf8412e
6:146755543 GRM1 T>C	6	146755543	146755543	T	C	GRM1	c.3196T>C	NM_001278064.1	NP_001264993.1:p.(Tyr1066His)	NC_000006.11:g.146755543T>C	(Likely) benign	1 lab	c74c7fa74a
3:195505898 MUC4 C>A	3	195505898	195505898	C	A	MUC4	c.12553G>T	NM_018406.6	NP_060876.5:p.(Ala4185Ser)	NC_000003.11:g.195505898C>A	(Likely) benign	1 lab	c74e2972ec
3:121491434 IQCB1 G>GTGCTA	3	121491434	121491440	G	GTGCTA	IQCB1	c.1532_1536dup	NM_001023570.3	NP_001018864.2:p.(Gln513Ter)	NC_000003.11:g.121491436_121491440dup	(Likely) pathogenic	1 lab	c74ffc143d
1:12017010 PLOD1 G>A	1	12017010	12017010	G	A	PLOD1	c.680G>A	NM_000302.3	NP_000293.2:p.(Arg227Lys)	NC_000001.10:g.12017010G>A	VUS	1 lab	c755dfd309
5:141336581 PCDH12 A>G	5	141336581	141336581	A	G	PCDH12	c.836T>C	NM_016580.3	NP_057664.1:p.(Val279Ala)	NC_000005.9:g.141336581A>G	VUS	1 lab	c755f5f078
2:85770131 MAT2A C>T	2	85770131	85770131	C	T	MAT2A	c.1059C>T	NM_005911.5	NP_005902.1:p.(Phe353=)	NC_000002.11:g.85770131C>T	(Likely) benign	1 lab	c756096963
6:152841678 SYNE1 C>CT	6	152841678	152841679	C	CT	SYNE1	c.226-2dup	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152841679dup	(Likely) pathogenic	1 lab	c7576e7d8c
22:50682300 TUBGCP6 A>G	22	50682300	50682300	A	G	TUBGCP6	c.589T>C	NM_020461.3	NP_065194.2:p.(Ser197Pro)	NC_000022.10:g.50682300A>G	VUS	1 lab	c759e6cf68
4:128851905 MFSD8 T>C	4	128851905	128851905	T	C	MFSD8	c.931A>G	NM_152778.2	NP_689991.1:p.(Ile311Val)	NC_000004.11:g.128851905T>C	(Likely) benign	1 lab	c75b71279c
1:43907738 SZT2 G>GCC	1	43907738	43907740	G	GCC	SZT2	c.7640_7641insCC	NM_015284.3	NP_056099.3:p.(Glu2548LeufsTer49)	NC_000001.10:g.43907739_43907740insCC	VUS	1 lab	c75b9edf51
16:89777330 VPS9D1 C>A	16	89777330	89777330	C	A	VPS9D1	c.922G>T	NM_004913.3	NP_004904.2:p.(Ala308Ser)	NC_000016.9:g.89777330C>A	(Likely) benign	1 lab	c75c22f74d
18:50734039 DCC A>G	18	50734039	50734039	A	G	DCC	c.1723-10A>G	NM_005215.3	NP_005206.2:p.?	NC_000018.9:g.50734039A>G	(Likely) benign	1 lab	c75d675113
3:52522091 NISCH C>A	3	52522091	52522091	C	A	NISCH	c.2583C>A	NM_007184.3	NP_009115.2:p.(Val861=)	NC_000003.11:g.52522091C>A	(Likely) benign	1 lab	c75dbc0074
13:20717053 GJA3 T>C	13	20717053	20717053	T	C	GJA3	c.375A>G	NM_021954.3	NP_068773.2:p.(Pro125=)	NC_000013.10:g.20717053T>C	(Likely) benign	1 lab	c75fabd4c1
3:132212989 DNAJC13 T>G	3	132212989	132212989	T	G	DNAJC13	c.3842T>G	NM_001329126.1	NP_001316055.1:p.(Val1281Gly)	NC_000003.11:g.132212989T>G	VUS	1 lab	c7629f104d
15:31339407 TRPM1 G>A	15	31339407	31339407	G	A	TRPM1	c.1722C>T	NM_001252020.1	NP_001238949.1:p.(Leu574=)	NC_000015.9:g.31339407G>A	(Likely) benign	1 lab	c7632cdb11
1:109838900 MYBPHL C>T	1	109838900	109838900	C	T	MYBPHL	c.823G>A	NM_001010985.2	NP_001010985.2:p.(Gly275Ser)	NC_000001.10:g.109838900C>T	VUS	1 lab	c76367c11b
X:30269170 MAGEB1 G>T	X	30269170	30269170	G	T	MAGEB1	c.560G>T	NM_002363.4	NP_002354.2:p.(Gly187Val)	NC_000023.10:g.30269170G>T	VUS	1 lab	c7637774a6
11:31824331 PAX6 A>G	11	31824331	31824331	A	G	PAX6	c.62T>C	NM_001310158.1	NP_001297087.1:p.(Leu21Pro)	NC_000011.9:g.31824331A>G	VUS	1 lab	c764ebcc50
17:42430032 GRN G>A	17	42430032	42430032	G	A	GRN	c.1648G>A	NM_002087.2	NP_002078.1:p.(Val550Ile)	NC_000017.10:g.42430032G>A	(Likely) benign	1 lab	c7657f5810
1:156145424 SEMA4A G>A	1	156145424	156145424	G	A	SEMA4A	c.1670G>A	NM_001193300.1	NP_001180229.1:p.(Arg557Gln)	NC_000001.10:g.156145424G>A	(Likely) benign	1 lab	c7661de2e0
14:24709059 TINF2 G>A	14	24709059	24709059	G	A	TINF2	c.1300C>T	NM_001099274.1	NP_001092744.1:p.(His434Tyr)	NC_000014.8:g.24709059G>A	(Likely) benign	1 lab	c7664090d2
X:100515075 DRP2 C>T	X	100515075	100515075	C	T	DRP2	c.2666C>T	NM_001939.2	NP_001930.2:p.(Ser889Leu)	NC_000023.10:g.100515075C>T	VUS	1 lab	c7668fe645
12:49426771 KMT2D A>AGCTGCT	12	49426771	49426787	A	AGCTGCT	KMT2D	c.11711_11716dup	NM_003482.3	NP_003473.3:p.(Gln3904_Gln3905dup)	NC_000012.11:g.49426782_49426787dup	VUS	1 lab	c766d9a076
X:140984512 MAGEC3 T>G	X	140984512	140984512	T	G	MAGEC3	c.74T>G	NM_177456.2	NP_803251.1:p.(Leu25Trp)	NC_000023.10:g.140984512T>G	(Likely) benign	1 lab	c76742de1e
4:656358 PDE6B C>T	4	656358	656358	C	T	PDE6B	c.1783C>T	NM_000283.3	NP_000274.2:p.(Leu595=)	NC_000004.11:g.656358C>T	(Likely) benign	1 lab	c7678a09b2
11:113267957 ANKK1 G>A	11	113267957	113267957	G	A	ANKK1	c.850G>A	NM_178510.1	NP_848605.1:p.(Glu284Lys)	NC_000011.9:g.113267957G>A	(Likely) benign	1 lab	c768de828f
2:31805674 SRD5A2 A>G	2	31805674	31805674	A	G	SRD5A2	c.281+16T>C	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31805674A>G	(Likely) benign	1 lab	c76b8b40bb
7:99908043 SPDYE3 G>A	7	99908043	99908043	G	A	SPDYE3	c.386G>A	NM_001004351.4	NP_001004351.3:p.(Cys129Tyr)	NC_000007.13:g.99908043G>A	(Likely) benign	1 lab	c76b96e5b5
3:129251592 RHO A>C	3	129251592	129251592	A	C	RHO	c.913A>C	NM_000539.3	NP_000530.1:p.(Ile305Leu)	NC_000003.11:g.129251592A>C	VUS	1 lab	c76be69f90
9:140002923 MAN1B1 C>T	9	140002923	140002923	C	T	MAN1B1	c.1980C>T	NM_016219.4	NP_057303.2:p.(Phe660=)	NC_000009.11:g.140002923C>T	(Likely) benign	1 lab	c76bef62d6
17:8141512 CTC1 G>A	17	8141512	8141512	G	A	CTC1	c.484C>T	NM_025099.6	NP_079375.3:p.(Arg162Cys)	NC_000017.10:g.8141512G>A	VUS	1 lab	c76cafb9a3
2:15307360 NBAS GATAGA>G	2	15307360	15307366	GATAGA	G	NBAS	c.6923_6927del	NM_015909.4	NP_056993.2:p.(Phe2308SerfsTer5)	NC_000002.11:g.15307362_15307366del	(Likely) pathogenic	1 lab	c76d183d46
17:4927262 KIF1C C>T	17	4927262	4927262	C	T	KIF1C	c.3128C>T	NM_006612.5	NP_006603.2:p.(Ala1043Val)	NC_000017.10:g.4927262C>T	(Likely) benign	1 lab	c76dde2425
16:67691550 ACD G>A	16	67691550	67691550	G	A	ACD	c.1336C>T	NM_001082486.2	NP_001075955.2:p.(Leu446=)	NC_000016.9:g.67691550G>A	(Likely) benign	1 lab	c76f65c2a2
19:9049871 MUC16 T>A	19	9049871	9049871	T	A	MUC16	c.31760A>T	NM_024690.2	NP_078966.2:p.(Asp10587Val)	NC_000019.9:g.9049871T>A	(Likely) benign	1 lab	c7735a5973
8:42147792 IKBKB G>C	8	42147792	42147792	G	C	IKBKB	c.141+1G>C	NM_001242778.1	NP_001229707.1:p.?	NC_000008.10:g.42147792G>C	(Likely) pathogenic	1 lab	c773a00d0d
4:79158756 FRAS1 A>G	4	79158756	79158756	A	G	FRAS1	c.201A>G	NM_025074.7	NP_079350.5:p.(Gln67=)	NC_000004.11:g.79158756A>G	(Likely) benign	1 lab	c775ea0954
10:17146599 CUBN A>G	10	17146599	17146599	A	G	CUBN	c.1236T>C	NM_001081.3	NP_001072.2:p.(Thr412=)	NC_000010.10:g.17146599A>G	(Likely) benign	1 lab	c77604beed
3:132221143 DNAJC13 G>A	3	132221143	132221143	G	A	DNAJC13	c.4547G>A	NM_015268.4	NP_056083.3:p.(Arg1516His)	NC_000003.11:g.132221143G>A	VUS	1 lab	c77acb62e1
19:50805014 MYH14 C>T	19	50805014	50805014	C	T	MYH14	c.5566C>T	NM_001145809.1	NP_001139281.1:p.(Arg1856Trp)	NC_000019.9:g.50805014C>T	VUS	1 lab	c77dcb066e
X:151935259 MAGEA3 G>A	X	151935259	151935259	G	A	MAGEA3	c.908C>T	NM_005362.3	NP_005353.1:p.(Pro303Leu)	NC_000023.10:g.151935259G>A	(Likely) benign	1 lab	c780899f88
12:96932261 CFAP54 T>G	12	96932261	96932261	T	G	CFAP54	c.1891T>G	NM_001306084.2	NP_001293013.1:p.(Tyr631Asp)	NC_000012.11:g.96932261T>G	(Likely) benign	1 lab	c78157bfc8
6:7585988 DSP G>C	6	7585988	7585988	G	C	DSP	c.8493G>C	NM_004415.2	NP_004406.2:p.(Ser2831=)	NC_000006.11:g.7585988G>C	(Likely) benign	1 lab	c782529f3d
X:66765265 AR G>T	X	66765265	66765265	G	T	AR	c.277G>T	NM_000044.4	NP_000035.2:p.(Glu93Ter)	NC_000023.10:g.66765265G>T	(Likely) pathogenic	1 lab	c78276eb21
11:117864733 IL10RA A>AACATGAAAACTTCAGCCTCCT	11	117864733	117864755	A	AACATGAAAACTTCAGCCTCCT	IL10RA	c.559_579dup	NM_001558.3	NP_001549.2:p.(His187_Leu193dup)	NC_000011.9:g.117864735_117864755dup	VUS	1 lab	c7827fefae
16:28354271 NPIPB6 G>A	16	28354271	28354271	G	A	NPIPB6	c.935C>T	NM_001282524.1	NP_001269453.1:p.(Pro312Leu)	NC_000016.9:g.28354271G>A	VUS	1 lab	c7846ca921
9:108363447 FKTN A>G	9	108363447	108363447	A	G	FKTN	c.187A>G	NM_006731.2	NP_006722.2:p.(Met63Val)	NC_000009.11:g.108363447A>G	(Likely) benign	1 lab	c784cf63c6
3:148930385 CP T>A	3	148930385	148930385	T	A	CP	c.247A>T	NM_000096.3	NP_000087.1:p.(Thr83Ser)	NC_000003.11:g.148930385T>A	(Likely) benign	1 lab	c78528abf5
6:43484921 POLR1C G>A	6	43484921	43484921	G	A	POLR1C	c.69+5G>A	NM_001363658.1	NP_001350587.1:p.?	NC_000006.11:g.43484921G>A	VUS	1 lab	c796f75b6f
16:2122240 TSC2 A>G	16	2122240	2122240	A	G	TSC2	c.2098-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122240A>G	(Likely) pathogenic	1 lab	c786733ed7
2:179479650 TTN G>A	2	179479650	179479650	G	A	TTN	c.48684C>T	NM_001267550.1	NP_001254479.1:p.(Arg16228=)	NC_000002.11:g.179479650G>A	(Likely) benign	1 lab	c786773bcb
X:153174949 ARHGAP4 C>A	X	153174949	153174949	C	A	ARHGAP4	c.2575G>T	NM_001164741.1	NP_001158213.1:p.(Gly859Trp)	NC_000023.10:g.153174949C>A	VUS	1 lab	c7876a7b2d
17:44064443 MAPT C>T	17	44064443	44064443	C	T	MAPT	c.1164C>T	NM_001123066.3	NP_001116538.2:p.(Ser388=)	NC_000017.10:g.44064443C>T	(Likely) benign	1 lab	c78893efcb
1:74954900 TNNI3K A>G	1	74954900	74954900	A	G	TNNI3K	c.2149A>G	NM_015978.2	NP_057062.1:p.(Met717Val)	NC_000001.10:g.74954900A>G	(Likely) benign	1 lab	c78948f6ca
5:86564995 RASA1 T>A	5	86564995	86564995	T	A	RASA1	c.539+188T>A	NM_002890.2	NP_002881.1:p.?	NC_000005.9:g.86564995T>A	(Likely) benign	1 lab	c78ae14fc6
5:147774350 FBXO38 G>A	5	147774350	147774350	G	A	FBXO38	c.11G>A	NM_205836.2	NP_995308.1:p.(Arg4Gln)	NC_000005.9:g.147774350G>A	VUS	1 lab	c78cfcee0e
5:82786016 VCAN A>C	5	82786016	82786016	A	C	VCAN	c.170A>C	NM_004385.4	NP_004376.2:p.(Asn57Thr)	NC_000005.9:g.82786016A>C	VUS	1 lab	c78faeb48d
X:107449779 COL4A6 G>T	X	107449779	107449779	G	T	COL4A6	c.578C>A	NM_001287758.1	NP_001274687.1:p.(Ala193Asp)	NC_000023.10:g.107449779G>T	(Likely) benign	1 lab	c7906478b9
16:2138104 TSC2 G>GC	16	2138104	2138107	G	GC	TSC2	c.5127dup	NM_000548.3	NP_000539.2:p.(Phe1710LeufsTer19)	NC_000016.9:g.2138107dup	(Likely) pathogenic	1 lab	c797d58593
21:46910210 COL18A1 G>A	21	46910210	46910210	G	A	COL18A1	c.1981G>A	NM_130445.2	NP_569712.2:p.(Val661Ile)	NC_000021.8:g.46910210G>A	(Likely) benign	1 lab	c79ac060e9
17:18149059 FLII G>A	17	18149059	18149059	G	A	FLII	c.3502C>T	NM_002018.3	NP_002009.1:p.(Arg1168Trp)	NC_000017.10:g.18149059G>A	VUS	1 lab	c79c65d271
9:13147540 MPDZ C>T	9	13147540	13147540	C	T	MPDZ	c.3741+7G>A	NM_003829.4	NP_003820.2:p.?	NC_000009.11:g.13147540C>T	(Likely) benign	1 lab	c79cbf7cc2
15:32738094 GOLGA8O G>T	15	32738094	32738094	G	T	GOLGA8O	c.1374C>A	NM_001277308.1	NP_001264237.1:p.(Ser458Arg)	NC_000015.9:g.32738094G>T	(Likely) benign	1 lab	c79ea68fa4
2:170003335 LRP2 T>C	2	170003335	170003335	T	C	LRP2	c.12725A>G	NM_004525.3	NP_004516.2:p.(Asp4242Gly)	NC_000002.11:g.170003335T>C	VUS	1 lab	c79ea7b111
14:91763787 CCDC88C G>A	14	91763787	91763787	G	A	CCDC88C	c.3828C>T	NM_001080414.3	NP_001073883.2:p.(His1276=)	NC_000014.8:g.91763787G>A	(Likely) benign	1 lab	c7a01afc1e
X:107418903 COL4A6 A>G	X	107418903	107418903	A	G	COL4A6	c.2862T>C	NM_001287758.1	NP_001274687.1:p.(Ala954=)	NC_000023.10:g.107418903A>G	(Likely) benign	1 lab	c7a01b2821
X:70348529 MED12 C>G	X	70348529	70348529	C	G	MED12	c.3436C>G	NM_005120.2	NP_005111.2:p.(Leu1146Val)	NC_000023.10:g.70348529C>G	VUS	1 lab	c7a57365fa
19:34003643 PEPD C>T	19	34003643	34003643	C	T	PEPD	c.57G>A	NM_000285.3	NP_000276.2:p.(Pro19=)	NC_000019.9:g.34003643C>T	(Likely) benign	1 lab	c7a58cdb6a
8:100568732 VPS13B A>G	8	100568732	100568732	A	G	VPS13B	c.4875A>G	NM_017890.4	NP_060360.3:p.(Arg1625=)	NC_000008.10:g.100568732A>G	(Likely) benign	1 lab	c7a590d6e5
15:65945134 SLC24A1 A>G	15	65945134	65945134	A	G	SLC24A1	c.3038A>G	NM_004727.2	NP_004718.1:p.(Asp1013Gly)	NC_000015.9:g.65945134A>G	VUS	1 lab	c7a6db1acf
1:237551415 RYR2 G>A	1	237551415	237551415	G	A	RYR2	c.705G>A	NM_001035.2	NP_001026.2:p.(Arg235=)	NC_000001.10:g.237551415G>A	(Likely) benign	1 lab	c7a6ef3ee2
4:111430891 ENPEP T>C	4	111430891	111430891	T	C	ENPEP	c.1122T>C	NM_001977.4	NP_001968.3:p.(Tyr374=)	NC_000004.11:g.111430891T>C	(Likely) benign	1 lab	c7a6f8f770
16:89614503 SPG7 G>A	16	89614503	89614503	G	A	SPG7	c.1645G>A	NM_001363850.1	NP_001350779.1:p.(Val549Met)	NC_000016.9:g.89614503G>A	VUS	1 lab	c7a7ef3e80
19:55672514 DNAAF3 G>A	19	55672514	55672514	G	A	DNAAF3	c.1035C>T	NM_001256714.1	NP_001243643.1:p.(Ile345=)	NC_000019.9:g.55672514G>A	(Likely) benign	1 lab	c7a856f5e1
17:29653172 NF1 C>T	17	29653172	29653172	C	T	NF1	c.5107C>T	NM_000267.3	NP_000258.1:p.(Gln1703Ter)	NC_000017.10:g.29653172C>T	(Likely) pathogenic	1 lab	c7a89af2cb
20:21686439 PAX1 GCAGCGCGCTCCGCTGCCGCGCA>G	20	21686439	21686468	GCAGCGCGCTCCGCTGCCGCGCA	G	PAX1	c.97_118del	NM_001257096.2	NP_001244025.1:p.(Leu33SerfsTer63)	NC_000020.10:g.21686447_21686468del	VUS	1 lab	c7a8a4e8c9
X:140996467 MAGEC1 A>AATAC	X	140996467	140996471	A	AATAC	MAGEC1	c.3278_3281dup	NM_005462.4	NP_005453.2:p.(Val1095TyrfsTer26)	NC_000023.10:g.140996468_140996471dup	VUS	1 lab	c7a8ff279b
2:44139627 LRPPRC G>A	2	44139627	44139627	G	A	LRPPRC	c.3219C>T	NM_133259.3	NP_573566.2:p.(Leu1073=)	NC_000002.11:g.44139627G>A	(Likely) benign	1 lab	c7a90294c0
3:123419013 MYLK T>C	3	123419013	123419013	T	C	MYLK	c.3302A>G	NM_053025.3	NP_444253.3:p.(Lys1101Arg)	NC_000003.11:g.123419013T>C	(Likely) benign	1 lab	c7abea8f0d
12:80648301 OTOGL T>C	12	80648301	80648301	T	C	OTOGL	c.1368-3T>C	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80648301T>C	(Likely) benign	1 lab	c7ae4da832
X:70523328 ITGB1BP2 C>T	X	70523328	70523328	C	T	ITGB1BP2	c.430C>T	NM_012278.3	NP_036410.1:p.(Arg144Trp)	NC_000023.10:g.70523328C>T	(Likely) benign	1 lab	c7b0cfe635
15:45443358 DUOX1 G>A	15	45443358	45443358	G	A	DUOX1	c.2926G>A	NM_017434.4	NP_059130.2:p.(Asp976Asn)	NC_000015.9:g.45443358G>A	(Likely) benign	1 lab	c7b381c3bf
2:189852826 COL3A1 G>T	2	189852826	189852826	G	T	COL3A1	c.548G>T	NM_000090.3	NP_000081.1:p.(Gly183Val)	NC_000002.11:g.189852826G>T	(Likely) pathogenic	1 lab	c7b3ee9a92
X:54521797 FGD1 C>T	X	54521797	54521797	C	T	FGD1	c.69G>A	NM_004463.2	NP_004454.2:p.(Pro23=)	NC_000023.10:g.54521797C>T	(Likely) benign	1 lab	c7b5f72045
20:10633201 JAG1 TG>T	20	10633201	10633204	TG	T	JAG1	c.800del	NM_000214.3	NP_000205.1:p.(Pro267HisfsTer145)	NC_000020.10:g.10633204del	(Likely) pathogenic	1 lab	c7b82cfd50
12:112924344 PTPN11 C>T	12	112924344	112924344	C	T	PTPN11	c.1290C>T	NM_002834.3	NP_002825.3:p.(Ser430=)	NC_000012.11:g.112924344C>T	(Likely) benign	1 lab	c7b9448303
15:55527075 RAB27A C>T	15	55527075	55527075	C	T	RAB27A	c.58G>A	NM_004580.4	NP_004571.2:p.(Val20Ile)	NC_000015.9:g.55527075C>T	VUS	1 lab	c7b9fd5814
12:109961848 UBE3B C>T	12	109961848	109961848	C	T	UBE3B	c.2430C>T	NM_130466.3	NP_569733.2:p.(Ser810=)	NC_000012.11:g.109961848C>T	(Likely) benign	1 lab	c7ba3043ff
5:70782444 BDP1 A>G	5	70782444	70782444	A	G	BDP1	c.1203A>G	NM_018429.2	NP_060899.2:p.(Lys401=)	NC_000005.9:g.70782444A>G	(Likely) benign	1 lab	c7bcdb57d2
10:73570298 CDH23 G>A	10	73570298	73570298	G	A	CDH23	c.9049G>A	NM_022124.5	NP_071407.4:p.(Asp3017Asn)	NC_000010.10:g.73570298G>A	VUS	1 lab	c7bea293e7
17:27581211 CRYBA1 A>G	17	27581211	27581211	A	G	CRYBA1	c.501-9A>G	NM_005208.4	NP_005199.2:p.?	NC_000017.10:g.27581211A>G	VUS	1 lab	c7bf9f9bb5
2:179296984 PRKRA G>A	2	179296984	179296984	G	A	PRKRA	c.752-3C>T	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179296984G>A	(Likely) benign	1 lab	c7c0c00800
16:16315608 ABCC6 T>C	16	16315608	16315608	T	C	ABCC6	c.117A>G	NM_001171.5	NP_001162.4:p.(Val39=)	NC_000016.9:g.16315608T>C	(Likely) benign	1 lab	c7c16fd1f7
X:71821841 PHKA1 C>G	X	71821841	71821841	C	G	PHKA1	c.3072G>C	NM_002637.3	NP_002628.2:p.(Gln1024His)	NC_000023.10:g.71821841C>G	VUS	1 lab	c7c1972267
17:79503758 FSCN2 C>G	17	79503758	79503758	C	G	FSCN2	c.1288C>G	NM_001077182.2	NP_001070650.1:p.(Arg430Gly)	NC_000017.10:g.79503758C>G	VUS	1 lab	c7c1cff3d1
9:139396735 NOTCH1 G>A	9	139396735	139396735	G	A	NOTCH1	c.5373C>T	NM_017617.5	NP_060087.3:p.(Ser1791=)	NC_000009.11:g.139396735G>A	(Likely) benign	1 lab	c7c298d078
1:243480091 SDCCAG8 G>A	1	243480091	243480091	G	A	SDCCAG8	c.61G>A	NM_001350251.1	NP_001337180.1:p.(Val21Ile)	NC_000001.10:g.243480091G>A	VUS	1 lab	c7c2f670f1
14:92549495 ATXN3 C>T	14	92549495	92549495	C	T	ATXN3	c.583G>A	NM_004993.5	NP_004984.2:p.(Glu195Lys)	NC_000014.8:g.92549495C>T	(Likely) benign	1 lab	c7c3d30254
1:3319456 PRDM16 C>T	1	3319456	3319456	C	T	PRDM16	c.778C>T	NM_022114.3	NP_071397.3:p.(Leu260Phe)	NC_000001.10:g.3319456C>T	(Likely) benign	1 lab	c7c4014ac9
1:39913203 MACF1 G>A	1	39913203	39913203	G	A	MACF1	c.13528G>A	NM_012090.5	NP_036222.3:p.(Ala4510Thr)	NC_000001.10:g.39913203G>A	VUS	1 lab	c7c5112824
13:99047515 FARP1 G>T	13	99047515	99047515	G	T	FARP1	c.1199G>T	NM_005766.3	NP_005757.1:p.(Gly400Val)	NC_000013.10:g.99047515G>T	(Likely) benign	1 lab	c7c7ca810f
1:17322741 ATP13A2 A>G	1	17322741	17322741	A	G	ATP13A2	c.1353+8T>C	NM_022089.2	NP_071372.1:p.?	NC_000001.10:g.17322741A>G	(Likely) benign	1 lab	c7c7cd30ad
19:36220137 KMT2B C>T	19	36220137	36220137	C	T	KMT2B	c.4857C>T	NM_014727.2	NP_055542.1:p.(Phe1619=)	NC_000019.9:g.36220137C>T	(Likely) benign	1 lab	c7c8ee1448
17:29679291 NF1 C>T	17	29679291	29679291	C	T	NF1	c.7411C>T	NM_000267.3	NP_000258.1:p.(Gln2471Ter)	NC_000017.10:g.29679291C>T	(Likely) pathogenic	1 lab	c7c94d0db2
11:78523358 TENM4 G>C	11	78523358	78523358	G	C	TENM4	c.1787C>G	NM_001098816.2	NP_001092286.2:p.(Ser596Cys)	NC_000011.9:g.78523358G>C	VUS	1 lab	c7c94fefa3
15:67073573 SMAD6 C>T	15	67073573	67073573	C	T	SMAD6	c.1191C>T	NM_005585.4	NP_005576.3:p.(Pro397=)	NC_000015.9:g.67073573C>T	(Likely) benign	1 lab	c7ca9c440f
X:152806822 ATP2B3 G>A	X	152806822	152806822	G	A	ATP2B3	c.214G>A	NM_021949.3	NP_068768.2:p.(Ala72Thr)	NC_000023.10:g.152806822G>A	(Likely) benign	1 lab	c7cadf6695
X:95993668 DIAPH2 G>A	X	95993668	95993668	G	A	DIAPH2	c.249G>A	NM_006729.4	NP_006720.1:p.(Ala83=)	NC_000023.10:g.95993668G>A	(Likely) benign	1 lab	c7cbc3df29
19:45858053 ERCC2 C>T	19	45858053	45858053	C	T	ERCC2	c.1600G>A	NM_000400.3	NP_000391.1:p.(Gly534Ser)	NC_000019.9:g.45858053C>T	VUS	1 lab	c7cc457310
14:61115390 SIX1 T>G	14	61115390	61115390	T	G	SIX1	c.518A>C	NM_005982.3	NP_005973.1:p.(Lys173Thr)	NC_000014.8:g.61115390T>G	VUS	1 lab	c7cca11d66
5:90106776 ADGRV1 G>C	5	90106776	90106776	G	C	ADGRV1	c.15699G>C	NM_032119.4	NP_115495.3:p.(Met5233Ile)	NC_000005.9:g.90106776G>C	(Likely) benign	1 lab	c7cda43aff
17:29587534 NF1 G>T	17	29587534	29587534	G	T	NF1	c.4514+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587534G>T	(Likely) pathogenic	1 lab	c7cfdeb0ac
17:29652885 NF1 TA>T	17	29652885	29652886	TA	T	NF1	c.4884del	NM_001042492.3	NP_001035957.1:p.(Leu1628PhefsTer2)	NC_000017.10:g.29652886del	(Likely) pathogenic	1 lab	c7cff422e0
12:32996210 PKP2 C>T	12	32996210	32996210	C	T	PKP2	c.1416G>A	NM_004572.3	NP_004563.2:p.(Pro472=)	NC_000012.11:g.32996210C>T	(Likely) benign	1 lab	c7d01b7b62
5:149495377 PDGFRB C>T	5	149495377	149495377	C	T	PDGFRB	c.2787G>A	NM_001355017.1	NP_001341946.1:p.(Pro929=)	NC_000005.9:g.149495377C>T	(Likely) benign	1 lab	c7d0e303a8
6:75893843 COL12A1 T>C	6	75893843	75893843	T	C	COL12A1	c.1015A>G	NM_004370.5	NP_004361.3:p.(Asn339Asp)	NC_000006.11:g.75893843T>C	(Likely) benign	1 lab	c7d2083d5a
1:12322016 VPS13D G>A	1	12322016	12322016	G	A	VPS13D	c.1473G>A	NM_015378.4	NP_056193.2:p.(Lys491=)	NC_000001.10:g.12322016G>A	(Likely) benign	1 lab	c7d3709c96
22:50721260 PLXNB2 C>T	22	50721260	50721260	C	T	PLXNB2	c.2867G>A	NM_012401.4	NP_036533.2:p.(Arg956Gln)	NC_000022.10:g.50721260C>T	(Likely) benign	1 lab	c7d3ecd4d9
1:228466458 OBSCN G>C	1	228466458	228466458	G	C	OBSCN	c.8215G>C	NM_001271223.2	NP_001258152.2:p.(Glu2739Gln)	NC_000001.10:g.228466458G>C	VUS	1 lab	c7d41a9dc8
9:120474891 TLR4 T>C	9	120474891	120474891	T	C	TLR4	c.365T>C	NM_003266.3	NP_003257.1:p.(Ile122Thr)	NC_000009.11:g.120474891T>C	VUS	1 lab	c7d514d38c
14:105418222 AHNAK2 G>C	14	105418222	105418222	G	C	AHNAK2	c.3566C>G	NM_138420.3	NP_612429.2:p.(Ser1189Cys)	NC_000014.8:g.105418222G>C	(Likely) benign	1 lab	c7d59f351b
X:46359846 ZNF674 C>T	X	46359846	46359846	C	T	ZNF674	c.1178G>A	NM_001039891.2	NP_001034980.1:p.(Ser393Asn)	NC_000023.10:g.46359846C>T	VUS	1 lab	c7d63c3180
3:132395348 UBA5 T>A	3	132395348	132395348	T	A	UBA5	c.1193T>A	NM_024818.4	NP_079094.1:p.(Met398Lys)	NC_000003.11:g.132395348T>A	VUS	1 lab	c7d7d25097
17:29585424 NF1 A>C	17	29585424	29585424	A	C	NF1	c.4173A>C	NM_000267.3	NP_000258.1:p.(Arg1391Ser)	NC_000017.10:g.29585424A>C	(Likely) pathogenic	1 lab	c7db885f00
18:77473000 CTDP1 G>T	18	77473000	77473000	G	T	CTDP1	c.892G>T	NM_004715.4	NP_004706.3:p.(Val298Phe)	NC_000018.9:g.77473000G>T	VUS	1 lab	c7dba2a84a
8:22273369 SLC39A14 G>A	8	22273369	22273369	G	A	SLC39A14	c.838G>A	NM_001135153.2	NP_001128625.1:p.(Gly280Arg)	NC_000008.10:g.22273369G>A	VUS	1 lab	c7dc72c2d0
20:33582094 MYH7B C>T	20	33582094	33582094	C	T	MYH7B	c.2716C>T	NM_020884.4	NP_065935.3:p.(Arg906Trp)	NC_000020.10:g.33582094C>T	VUS	1 lab	c7dcfb48ef
17:76481627 DNAH17 C>T	17	76481627	76481627	C	T	DNAH17	c.7483+5G>A	NM_173628.3	NP_775899.3:p.?	NC_000017.10:g.76481627C>T	VUS	1 lab	c7de4768db
1:215807968 USH2A T>G	1	215807968	215807968	T	G	USH2A	c.15130A>C	NM_206933.2	NP_996816.2:p.(Ile5044Leu)	NC_000001.10:g.215807968T>G	VUS	1 lab	c7e029ef27
1:47882687 FOXE3 GC>G	1	47882687	47882692	GC	G	FOXE3	c.705del	NM_012186.3	NP_036318.1:p.(Glu236SerfsTer71)	NC_000001.10:g.47882692del	(Likely) pathogenic	1 lab	c7e2a73e29
5:70936844 MCCC2 C>T	5	70936844	70936844	C	T	MCCC2	c.1014C>T	NM_022132.4	NP_071415.1:p.(Ile338=)	NC_000005.9:g.70936844C>T	(Likely) benign	1 lab	c7e3e8232e
4:122749661 BBS7 C>T	4	122749661	122749661	C	T	BBS7	c.1787-1G>A	NM_176824.2	NP_789794.1:p.?	NC_000004.11:g.122749661C>T	(Likely) pathogenic	1 lab	c7e5cae164
15:49088220 CEP152 T>C	15	49088220	49088220	T	C	CEP152	c.678A>G	NM_001194998.1	NP_001181927.1:p.(Leu226=)	NC_000015.9:g.49088220T>C	(Likely) benign	1 lab	c7e69dd57c
1:92540129 SETSIP TTCA>T	1	92540129	92540140	TTCA	T	SETSIP	c.837_839del	NM_001287737.2	NP_001274666.2:p.(Asp279del)	NC_000001.10:g.92540138_92540140del	VUS	1 lab	c7e83f1b0c
19:17893940 FCHO1 C>T	19	17893940	17893940	C	T	FCHO1	c.2052C>T	NM_001161357.1	NP_001154829.1:p.(Thr684=)	NC_000019.9:g.17893940C>T	(Likely) benign	1 lab	c7e944118f
1:220364616 RAB3GAP2 G>A	1	220364616	220364616	G	A	RAB3GAP2	c.1281C>T	NM_012414.3	NP_036546.2:p.(Asp427=)	NC_000001.10:g.220364616G>A	(Likely) benign	1 lab	c7ebce7d84
5:37019404 NIPBL A>G	5	37019404	37019404	A	G	NIPBL	c.4921-9A>G	NM_015384.4	NP_056199.2:p.?	NC_000005.9:g.37019404A>G	(Likely) benign	1 lab	c7ebe18558
2:179411528 TTN T>C	2	179411528	179411528	T	C	TTN	c.94627A>G	NM_001267550.1	NP_001254479.1:p.(Ile31543Val)	NC_000002.11:g.179411528T>C	VUS	1 lab	c7ec6e4a6b
16:71218900 HYDIN T>A	16	71218900	71218900	T	A	HYDIN	c.136-7A>T	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71218900T>A	(Likely) benign	1 lab	c7ee58368e
2:25016004 PTRHD1 C>A	2	25016004	25016004	C	A	PTRHD1	c.243G>T	NM_001013663.1	NP_001013685.1:p.(Val81=)	NC_000002.11:g.25016004C>A	(Likely) benign	1 lab	c7eec70387
2:73519762 EGR4 G>A	2	73519762	73519762	G	A	EGR4	c.284C>T	NM_001965.4	NP_001956.4:p.(Pro95Leu)	NC_000002.11:g.73519762G>A	VUS	1 lab	c7eed40dfe
17:1629603 WDR81 C>T	17	1629603	1629603	C	T	WDR81	c.1350C>T	NM_001163809.1	NP_001157281.1:p.(Tyr450=)	NC_000017.10:g.1629603C>T	(Likely) benign	1 lab	c7ef1f3b0a
X:7868758 PNPLA4 T>G	X	7868758	7868758	T	G	PNPLA4	c.731A>C	NM_004650.2	NP_004641.1:p.(Lys244Thr)	NC_000023.10:g.7868758T>G	(Likely) benign	1 lab	c7ef4bb129
17:29550513 NF1 TA>T	17	29550513	29550514	TA	T	NF1	c.1774del	NM_001042492.3	NP_001035957.1:p.(Ser592ValfsTer13)	NC_000017.10:g.29550514del	(Likely) pathogenic	1 lab	c7ef7dff29
16:88498675 ZNF469 C>T	16	88498675	88498675	C	T	ZNF469				NC_000016.9:g.88498675C>T	(Likely) benign	1 lab	c7f04843ed
10:70531020 CCAR1 A>T	10	70531020	70531020	A	T	CCAR1	c.2311A>T	NM_001282959.1	NP_001269888.1:p.(Ile771Leu)	NC_000010.10:g.70531020A>T	VUS	1 lab	c7f2a6dcf0
5:150922693 FAT2 A>C	5	150922693	150922693	A	C	FAT2	c.7995T>G	NM_001447.2	NP_001438.1:p.(Asp2665Glu)	NC_000005.9:g.150922693A>C	VUS	1 lab	c7f34769c5
9:134396780 POMT1 C>T	9	134396780	134396780	C	T	POMT1	c.1746C>T	NM_001136113.1	NP_001129585.1:p.(Ser582=)	NC_000009.11:g.134396780C>T	(Likely) benign	1 lab	c7f66242bf
4:17506098 QDPR C>T	4	17506098	17506098	C	T	QDPR	c.199G>A	NM_000320.2	NP_000311.2:p.(Val67Met)	NC_000004.11:g.17506098C>T	VUS	1 lab	c7f7539528
11:1025844 MUC6 G>A	11	1025844	1025844	G	A	MUC6	c.2760C>T	NM_005961.2	NP_005952.2:p.(Ser920=)	NC_000011.9:g.1025844G>A	(Likely) benign	1 lab	c7f7c3ef7e
12:26755617 ITPR2 A>C	12	26755617	26755617	A	C	ITPR2	c.3485T>G	NM_002223.3	NP_002214.2:p.(Val1162Gly)	NC_000012.11:g.26755617A>C	VUS	1 lab	c7f829bd93
12:121678327 CAMKK2 CT>C	12	121678327	121678340	CT	C	CAMKK2	c.*174del	NM_001270485.2	NP_001257414.1:p.?	NC_000012.11:g.121678340del	(Likely) benign	1 lab	c7f917eda2
7:23015861 HYCC1 A>T	7	23015861	23015861	A	T	HYCC1	c.594T>A	NM_032581.3	NP_115970.2:p.(Val198=)	NC_000007.13:g.23015861A>T	(Likely) benign	1 lab	c7f923095c
13:23929158 SACS G>A	13	23929158	23929158	G	A	SACS	c.1593C>T	NM_014363.5	NP_055178.3:p.(Ile531=)	NC_000013.10:g.23929158G>A	(Likely) benign	1 lab	c7fb52549a
12:114839744 TBX5 A>T	12	114839744	114839744	A	T	TBX5	c.148-19T>A	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114839744A>T	(Likely) benign	1 lab	c7fb585f1e
18:50734144 DCC G>A	18	50734144	50734144	G	A	DCC	c.1818G>A	NM_005215.3	NP_005206.2:p.(Pro606=)	NC_000018.9:g.50734144G>A	(Likely) benign	1 lab	c7fb6bac7a
17:29654695 NF1 AGT>A	17	29654695	29654700	AGT	A	NF1	c.5451_5452del	NM_001042492.3	NP_001035957.1:p.(Cys1817Ter)	NC_000017.10:g.29654699_29654700del	(Likely) pathogenic	1 lab	c7fb6cf04d
2:88874469 EIF2AK3 A>G	2	88874469	88874469	A	G	EIF2AK3	c.2532T>C	NM_004836.6	NP_004827.4:p.(Ser844=)	NC_000002.11:g.88874469A>G	(Likely) benign	1 lab	c7fbee4ba0
8:61765872 CHD7 C>T	8	61765872	61765872	C	T	CHD7				NC_000008.10:g.61765872C>T	(Likely) benign	1 lab	c7fd4b7b6c
2:47256410 TTC7A G>A	2	47256410	47256410	G	A	TTC7A	c.1689G>A	NM_001288951.1	NP_001275880.1:p.(Lys563=)	NC_000002.11:g.47256410G>A	(Likely) benign	1 lab	c8005cb792
10:95360433 RBP4 C>G	10	95360433	95360433	C	G	RBP4	c.239G>C	NM_001323517.1	NP_001310446.1:p.(Arg80Pro)	NC_000010.10:g.95360433C>G	VUS	1 lab	c8007904e3
10:72195226 NODAL C>T	10	72195226	72195226	C	T	NODAL	c.707G>A	NM_018055.4	NP_060525.3:p.(Arg236His)	NC_000010.10:g.72195226C>T	VUS	1 lab	c80139b0c1
15:52646154 MYO5A G>A	15	52646154	52646154	G	A	MYO5A	c.3481C>T	NM_000259.3	NP_000250.3:p.(Arg1161Trp)	NC_000015.9:g.52646154G>A	VUS	1 lab	c805e9ca7f
12:56398742 SUOX C>A	12	56398742	56398742	C	A	SUOX	c.1569C>A	NM_000456.2	NP_000447.2:p.(Ala523=)	NC_000012.11:g.56398742C>A	(Likely) benign	1 lab	c80a42ac3e
20:57876507 EDN3 G>C	20	57876507	57876507	G	C	EDN3	c.95G>C	NM_207032.2	NP_996915.1:p.(Gly32Ala)	NC_000020.10:g.57876507G>C	(Likely) benign	1 lab	c80d3bc509
1:215901462 USH2A A>G	1	215901462	215901462	A	G	USH2A	c.11976T>C	NM_206933.2	NP_996816.2:p.(Asn3992=)	NC_000001.10:g.215901462A>G	(Likely) benign	1 lab	c810e2cc8d
14:102910102 TECPR2 G>A	14	102910102	102910102	G	A	TECPR2	c.2871G>A	NM_014844.4	NP_055659.2:p.(Leu957=)	NC_000014.8:g.102910102G>A	(Likely) benign	1 lab	c81120f100
22:38165136 TRIOBP G>A	22	38165136	38165136	G	A	TRIOBP	c.6677G>A	NM_001039141.2	NP_001034230.1:p.(Arg2226His)	NC_000022.10:g.38165136G>A	VUS	1 lab	c811ab183e
6:37605223 MDGA1 G>A	6	37605223	37605223	G	A	MDGA1	c.2789C>T	NM_153487.3	NP_705691.1:p.(Pro930Leu)	NC_000006.11:g.37605223G>A	(Likely) benign	1 lab	c8133595fd
1:215848435 USH2A T>C	1	215848435	215848435	T	C	USH2A	c.12818A>G	NM_206933.2	NP_996816.2:p.(Tyr4273Cys)	NC_000001.10:g.215848435T>C	VUS	1 lab	c81354afba
19:56001331 SSC5D C>T	19	56001331	56001331	C	T	SSC5D	c.444C>T	NM_001144950.1	NP_001138422.1:p.(Ser148=)	NC_000019.9:g.56001331C>T	(Likely) benign	1 lab	c81506909b
2:239247095 TRAF3IP1 A>G	2	239247095	239247095	A	G	TRAF3IP1	c.1156A>G	NM_015650.3	NP_056465.2:p.(Ile386Val)	NC_000002.11:g.239247095A>G	(Likely) benign	1 lab	c817db7686
4:110685686 CFI C>T	4	110685686	110685686	C	T	CFI	c.482+7G>A	NM_001318057.1	NP_001304986.1:p.?	NC_000004.11:g.110685686C>T	(Likely) benign	1 lab	c8183186e5
11:34979114 PDHX A>G	11	34979114	34979114	A	G	PDHX	c.526A>G	NM_003477.2	NP_003468.2:p.(Ile176Val)	NC_000011.9:g.34979114A>G	(Likely) benign	1 lab	c81a1af178
6:39271765 KCNK17 A>AG	6	39271765	39271768	A	AG	KCNK17	c.655dup	NM_001135111.1	NP_001128583.1:p.(Leu219ProfsTer64)	NC_000006.11:g.39271768dup	VUS	1 lab	c81b120953
17:73619928 MYO15B C>A	17	73619928	73619928	C	A	MYO15B	c.8036C>A	NM_001309242.1	NP_001296171.1:p.(Pro2679His)	NC_000017.10:g.73619928C>A	(Likely) benign	1 lab	c81bd4730b
8:48885559 MCM4 A>G	8	48885559	48885559	A	G	MCM4	c.2071A>G	NM_005914.4	NP_005905.2:p.(Ile691Val)	NC_000008.10:g.48885559A>G	VUS	1 lab	c81c9eb060
21:34925980 SON A>G	21	34925980	34925980	A	G	SON	c.4443A>G	NM_138927.2	NP_620305.2:p.(Ser1481=)	NC_000021.8:g.34925980A>G	(Likely) benign	1 lab	c81d67651e
19:15784397 CYP4F12 C>T	19	15784397	15784397	C	T	CYP4F12	c.58C>T	NM_023944.3	NP_076433.3:p.(Leu20=)	NC_000019.9:g.15784397C>T	(Likely) benign	1 lab	c81e28a31e
9:135172292 SETX G>C	9	135172292	135172292	G	C	SETX	c.5931C>G	NM_015046.5	NP_055861.3:p.(Leu1977=)	NC_000009.11:g.135172292G>C	(Likely) benign	1 lab	c81e332d65
17:29554544 NF1 T>G	17	29554544	29554544	T	G	NF1	c.2329T>G	NM_000267.3	NP_000258.1:p.(Trp777Gly)	NC_000017.10:g.29554544T>G	(Likely) pathogenic	1 lab	c81f9de4b8
7:135106907 CNOT4 C>T	7	135106907	135106907	C	T	CNOT4	c.370G>A	NM_001190848.1	NP_001177777.1:p.(Glu124Lys)	NC_000007.13:g.135106907C>T	VUS	1 lab	c81f9eeb73
9:131355273 SPTAN1 C>T	9	131355273	131355273	C	T	SPTAN1	c.3167C>T	NM_001130438.2	NP_001123910.1:p.(Thr1056Ile)	NC_000009.11:g.131355273C>T	VUS	1 lab	c82070aec9
1:110604056 ALX3 C>G	1	110604056	110604056	C	G	ALX3	c.723+1G>C	NM_006492.3	NP_006483.2:p.?	NC_000001.10:g.110604056C>G	(Likely) pathogenic	1 lab	c82240a7f8
21:33750823 URB1 C>A	21	33750823	33750823	C	A	URB1	c.595G>T	NM_014825.3	NP_055640.2:p.(Val199Phe)	NC_000021.8:g.33750823C>A	VUS	1 lab	c822a1d5f3
1:100949904 CDC14A G>A	1	100949904	100949904	G	A	CDC14A	c.1034G>A	NM_001319210.1	NP_001306139.1:p.(Arg345Gln)	NC_000001.10:g.100949904G>A	(Likely) benign	1 lab	c823003e5b
2:141816609 LRP1B A>G	2	141816609	141816609	A	G	LRP1B	c.1251T>C	NM_018557.2	NP_061027.2:p.(Tyr417=)	NC_000002.11:g.141816609A>G	(Likely) benign	1 lab	c824119bc5
8:126049585 WASHC5 G>A	8	126049585	126049585	G	A	WASHC5	c.3085-10C>T	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126049585G>A	(Likely) benign	1 lab	c824d03a87
22:36737476 MYH9 C>T	22	36737476	36737476	C	T	MYH9	c.429G>A	NM_002473.5	NP_002464.1:p.(Arg143=)	NC_000022.10:g.36737476C>T	(Likely) benign	1 lab	c825dcfb55
22:46748164 TRMU C>A	22	46748164	46748164	C	A	TRMU	c.709C>A	NM_018006.4	NP_060476.2:p.(Leu237Met)	NC_000022.10:g.46748164C>A	VUS	1 lab	c82748d944
6:49421373 MMUT C>T	6	49421373	49421373	C	T	MMUT	c.1008G>A	NM_000255.3	NP_000246.2:p.(Met336Ile)	NC_000006.11:g.49421373C>T	(Likely) benign	1 lab	c8288efa17
X:50653945 BMP15 C>T	X	50653945	50653945	C	T	BMP15	c.162C>T	NM_005448.2	NP_005439.2:p.(Gly54=)	NC_000023.10:g.50653945C>T	(Likely) benign	1 lab	c829c3f11b
6:10557208 GCNT2 C>A	6	10557208	10557208	C	A	GCNT2	c.552C>A	NM_001491.2	NP_001482.1:p.(Tyr184Ter)	NC_000006.11:g.10557208C>A	(Likely) pathogenic	1 lab	c82d359b74
9:34647081 GALT C>T	9	34647081	34647081	C	T	GALT	c.83-5C>T	NM_000155.3	NP_000146.2:p.?	NC_000009.11:g.34647081C>T	(Likely) benign	1 lab	c82d626f9a
1:197071293 ASPM A>C	1	197071293	197071293	A	C	ASPM	c.7088T>G	NM_018136.4	NP_060606.3:p.(Val2363Gly)	NC_000001.10:g.197071293A>C	VUS	1 lab	c82debdc31
17:29554626 NF1 T>A	17	29554626	29554626	T	A	NF1	c.2409+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554626T>A	(Likely) pathogenic	1 lab	c82df5865b
19:40890029 HIPK4 G>A	19	40890029	40890029	G	A	HIPK4	c.483C>T	NM_144685.4	NP_653286.2:p.(Ser161=)	NC_000019.9:g.40890029G>A	(Likely) benign	1 lab	c82f12fb9d
2:239056585 KLHL30 C>T	2	239056585	239056585	C	T	KLHL30	c.1261C>T	NM_198582.4	NP_940984.3:p.(Arg421Trp)	NC_000002.11:g.239056585C>T	(Likely) benign	1 lab	c834384ff3
14:23884634 MYH7 C>T	14	23884634	23884634	C	T	MYH7	c.5239G>A	NM_000257.2	NP_000248.2:p.(Glu1747Lys)	NC_000014.8:g.23884634C>T	VUS	1 lab	c834fb7462
8:126056120 WASHC5 C>T	8	126056120	126056120	C	T	WASHC5	c.2797G>A	NM_014846.3	NP_055661.3:p.(Ala933Thr)	NC_000008.10:g.126056120C>T	VUS	1 lab	c8358619ba
7:2974234 CARD11 G>A	7	2974234	2974234	G	A	CARD11	c.1371C>T	NM_001324281.1	NP_001311210.1:p.(Ile457=)	NC_000007.13:g.2974234G>A	(Likely) benign	1 lab	c835e6e264
17:29559061 NF1 ATTTTTTT>A	17	29559061	29559087	ATTTTTTT	A	NF1	c.3198-10_3198-4del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559081_29559087del	(Likely) benign	1 lab	c836eb83fe
6:42937719 PEX6 C>A	6	42937719	42937719	C	A	PEX6	c.1137G>T	NM_000287.3	NP_000278.3:p.(Arg379=)	NC_000006.11:g.42937719C>A	(Likely) benign	1 lab	c8383f08db
X:12904697 TLR7 G>A	X	12904697	12904697	G	A	TLR7	c.1070G>A	NM_016562.3	NP_057646.1:p.(Arg357His)	NC_000023.10:g.12904697G>A	(Likely) benign	1 lab	c8389f635c
19:54655963 CNOT3 G>C	19	54655963	54655963	G	C	CNOT3	c.1606G>C	NM_014516.4	NP_055331.1:p.(Ala536Pro)	NC_000019.9:g.54655963G>C	VUS	1 lab	c839a0ff4b
2:71190382 ATP6V1B1 C>T	2	71190382	71190382	C	T	ATP6V1B1	c.1000C>T	NM_001692.4	NP_001683.2:p.(Arg334Cys)	NC_000002.11:g.71190382C>T	VUS	1 lab	c83bba8b68
X:144904567 SLITRK2 C>T	X	144904567	144904567	C	T	SLITRK2	c.624C>T	NM_032539.4	NP_115928.1:p.(Ile208=)	NC_000023.10:g.144904567C>T	(Likely) benign	1 lab	c83cbef0c6
3:53757505 CACNA1D C>T	3	53757505	53757505	C	T	CACNA1D	c.1771C>T	NM_000720.3	NP_000711.1:p.(Leu591=)	NC_000003.11:g.53757505C>T	(Likely) benign	1 lab	c83d049095
5:141244349 PCDH1 G>A	5	141244349	141244349	G	A	PCDH1	c.1547C>T	NM_032420.3	NP_115796.2:p.(Pro516Leu)	NC_000005.9:g.141244349G>A	VUS	1 lab	c83f0f7152
X:48542247 WAS G>C	X	48542247	48542247	G	C	WAS	c.5G>C	NM_000377.2	NP_000368.1:p.(Ser2Thr)	NC_000023.10:g.48542247G>C	(Likely) benign	1 lab	c83f76f830
14:102486293 DYNC1H1 GT>G	14	102486293	102486294	GT	G	DYNC1H1	c.8408del	NM_001376.5	NP_001367.2:p.(Val2803GlyfsTer8)	NC_000014.8:g.102486294del	VUS	1 lab	c83f9d2981
8:61763143 CHD7 G>A	8	61763143	61763143	G	A	CHD7				NC_000008.10:g.61763143G>A	(Likely) benign	1 lab	c83fafa782
7:103206015 RELN TG>T	7	103206015	103206016	TG	T	RELN	c.4937-18del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206016del	(Likely) benign	1 lab	c8408e8901
X:140785835 MISSING C>T	X	140785835	140785835	C	T	MISSING				NC_000023.10:g.140785835C>T	(Likely) benign	1 lab	c841d18197
19:45207413 CEACAM16 G>A	19	45207413	45207413	G	A	CEACAM16	c.508G>A	NM_001039213.4	NP_001034302.2:p.(Ala170Thr)	NC_000019.9:g.45207413G>A	(Likely) benign	1 lab	c845552c98
11:9200444 DENND5A G>A	11	9200444	9200444	G	A	DENND5A	c.1632C>T	NM_015213.3	NP_056028.2:p.(Ser544=)	NC_000011.9:g.9200444G>A	(Likely) benign	1 lab	c845fbc2b7
12:21652503 RECQL A>G	12	21652503	21652503	A	G	RECQL	c.2T>C	NM_002907.4	NP_002898.2:p.(Met1?)	NC_000012.11:g.21652503A>G	(Likely) pathogenic	1 lab	c8462c14e7
17:48270049 COL1A1 G>A	17	48270049	48270049	G	A	COL1A1	c.1881C>T	NM_000088.3	NP_000079.2:p.(Pro627=)	NC_000017.10:g.48270049G>A	(Likely) benign	1 lab	c847be27ce
18:72343402 ZNF407 G>T	18	72343402	72343402	G	T	ZNF407	c.427G>T	NM_017757.2	NP_060227.2:p.(Val143Phe)	NC_000018.9:g.72343402G>T	(Likely) benign	1 lab	c84d53740e
6:33752201 LEMD2 A>G	6	33752201	33752201	A	G	LEMD2	c.781T>C	NM_181336.3	NP_851853.1:p.(Cys261Arg)	NC_000006.11:g.33752201A>G	VUS	1 lab	c84d6d3a38
X:153692580 PLXNA3 G>A	X	153692580	153692580	G	A	PLXNA3	c.1752G>A	NM_017514.4	NP_059984.3:p.(Ala584=)	NC_000023.10:g.153692580G>A	(Likely) benign	1 lab	c84eec3a2e
2:189950447 COL5A2 T>C	2	189950447	189950447	T	C	COL5A2	c.742A>G	NM_000393.4	NP_000384.2:p.(Met248Val)	NC_000002.11:g.189950447T>C	VUS	1 lab	c8520ef94f
9:135797278 TSC1 G>GC	9	135797278	135797279	G	GC	TSC1	c.590dup	NM_000368.4	NP_000359.1:p.(Cys197TrpfsTer21)	NC_000009.11:g.135797279dup	(Likely) pathogenic	1 lab	c85226640b
9:39144313 CNTNAP3 G>A	9	39144313	39144313	G	A	CNTNAP3	c.1680C>T	NM_033655.3	NP_387504.2:p.(Gly560=)	NC_000009.11:g.39144313G>A	VUS	1 lab	c85305d8b0
3:129247728 RHO G>T	3	129247728	129247728	G	T	RHO	c.152G>T	NM_000539.3	NP_000530.1:p.(Gly51Val)	NC_000003.11:g.129247728G>T	VUS	1 lab	c8530fa2bf
4:158065086 GLRB C>T	4	158065086	158065086	C	T	GLRB	c.879C>T	NM_000824.4	NP_000815.1:p.(Asp293=)	NC_000004.11:g.158065086C>T	(Likely) benign	1 lab	c85459a1e2
12:83290105 TMTC2 C>G	12	83290105	83290105	C	G	TMTC2	c.1163C>G	NM_152588.3	NP_689801.1:p.(Pro388Arg)	NC_000012.11:g.83290105C>G	VUS	1 lab	c855212c12
X:50377066 SHROOM4 G>T	X	50377066	50377066	G	T	SHROOM4	c.2007C>A	NM_020717.3	NP_065768.2:p.(Ser669Arg)	NC_000023.10:g.50377066G>T	VUS	1 lab	c85672407f
17:48504265 ACSF2 G>C	17	48504265	48504265	G	C	ACSF2	c.129-1G>C	NM_001288968.1	NP_001275897.1:p.?	NC_000017.10:g.48504265G>C	VUS	1 lab	c8572d2cb2
7:151573647 PRKAG2 C>T	7	151573647	151573647	C	T	PRKAG2	c.59G>A	NM_016203.3	NP_057287.2:p.(Ser20Asn)	NC_000007.13:g.151573647C>T	(Likely) benign	1 lab	c8577971be
15:28459219 HERC2 C>T	15	28459219	28459219	C	T	HERC2	c.6555+3G>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28459219C>T	(Likely) benign	1 lab	c8580ab89b
2:48027897 MSH6 A>C	2	48027897	48027897	A	C	MSH6	c.2775A>C	NM_000179.2	NP_000170.1:p.(Gly925=)	NC_000002.11:g.48027897A>C	VUS	1 lab	c858401f14
17:73945975 ACOX1 G>A	17	73945975	73945975	G	A	ACOX1	c.1188C>T	NM_001185039.1	NP_001171968.1:p.(Phe396=)	NC_000017.10:g.73945975G>A	(Likely) benign	1 lab	c8596c8741
16:706828 WDR90 C>T	16	706828	706828	C	T	WDR90	c.2299C>T	NM_145294.5	NP_660337.3:p.(Arg767Cys)	NC_000016.9:g.706828C>T	VUS	1 lab	c859b18980
3:93768353 ARL13B A>C	3	93768353	93768353	A	C	ARL13B	c.1128A>C	NM_001174150.1	NP_001167621.1:p.(Pro376=)	NC_000003.11:g.93768353A>C	(Likely) benign	1 lab	c85cf19228
1:65312428 JAK1 G>A	1	65312428	65312428	G	A	JAK1	c.1900-9C>T	NM_001321853.1	NP_001308782.1:p.?	NC_000001.10:g.65312428G>A	(Likely) benign	1 lab	c85d3cec6d
8:145049552 PLEC G>A	8	145049552	145049552	G	A	PLEC	c.-6-9C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145049552G>A	VUS	1 lab	0e7dc38fb7
19:39412664 SARS2 G>A	19	39412664	39412664	G	A	SARS2	c.448C>T	NM_001145901.1	NP_001139373.1:p.(Pro150Ser)	NC_000019.9:g.39412664G>A	(Likely) benign	1 lab	c85dc1b367
16:2129628 TSC2 C>T	16	2129628	2129628	C	T	TSC2	c.3355C>T	NM_000548.3	NP_000539.2:p.(Gln1119Ter)	NC_000016.9:g.2129628C>T	(Likely) pathogenic	1 lab	c85df03c17
Y:14930371 USP9Y G>A	Y	14930371	14930371	G	A	USP9Y	c.4847G>A	NM_004654.3	NP_004645.2:p.(Arg1616Gln)	NC_000024.9:g.14930371G>A	(Likely) benign	1 lab	c85faa5375
14:91760648 CCDC88C G>A	14	91760648	91760648	G	A	CCDC88C	c.3981C>T	NM_001080414.3	NP_001073883.2:p.(Leu1327=)	NC_000014.8:g.91760648G>A	(Likely) benign	1 lab	c85fd36c46
9:135801012 TSC1 G>A	9	135801012	135801012	G	A	TSC1	c.325C>T	NM_000368.4	NP_000359.1:p.(Gln109Ter)	NC_000009.11:g.135801012G>A	(Likely) pathogenic	1 lab	c860af154d
10:32832301 CCDC7 A>T	10	32832301	32832301	A	T	CCDC7	c.1067A>T	NM_001321115.1	NP_001308044.1:p.(Glu356Val)	NC_000010.10:g.32832301A>T	VUS	1 lab	c861e73683
12:43823449 ADAMTS20 C>T	12	43823449	43823449	C	T	ADAMTS20	c.3460G>A	NM_025003.4	NP_079279.3:p.(Ala1154Thr)	NC_000012.11:g.43823449C>T	(Likely) benign	1 lab	c863b179f0
17:29556158 NF1 GC>G	17	29556158	29556159	GC	G	NF1	c.2526del	NM_001042492.3	NP_001035957.1:p.(Phe843SerfsTer35)	NC_000017.10:g.29556159del	(Likely) pathogenic	1 lab	c86654e016
17:42427860 GRN C>T	17	42427860	42427860	C	T	GRN	c.513C>T	NM_002087.2	NP_002078.1:p.(Cys171=)	NC_000017.10:g.42427860C>T	(Likely) benign	1 lab	c8667b6cb1
12:49432651 KMT2D G>A	12	49432651	49432651	G	A	KMT2D	c.8488C>T	NM_003482.3	NP_003473.3:p.(Arg2830Ter)	NC_000012.11:g.49432651G>A	(Likely) pathogenic	1 lab	c866bbc617
5:180055936 FLT4 T>A	5	180055936	180055936	T	A	FLT4	c.1049A>T	NM_182925.4	NP_891555.2:p.(Glu350Val)	NC_000005.9:g.180055936T>A	(Likely) benign	1 lab	c867036251
1:235993603 LYST T>C	1	235993603	235993603	T	C	LYST	c.115A>G	NM_001301365.1	NP_001288294.1:p.(Met39Val)	NC_000001.10:g.235993603T>C	VUS	1 lab	c867a5106f
4:151752985 LRBA C>T	4	151752985	151752985	C	T	LRBA	c.4713G>A	NM_001199282.2	NP_001186211.2:p.(Glu1571=)	NC_000004.11:g.151752985C>T	(Likely) benign	1 lab	c868b4f36d
2:234638210 UGT1A3 T>C	2	234638210	234638210	T	C	UGT1A3	c.438T>C	NM_019093.2	NP_061966.1:p.(Phe146=)	NC_000002.11:g.234638210T>C	(Likely) benign	1 lab	c86ad6d630
12:7187753 MISSING G>A	12	7187753	7187753	G	A	MISSING				NC_000012.11:g.7187753G>A	(Likely) benign	1 lab	c86b67dcd3
19:7712363 STXBP2 C>T	19	7712363	7712363	C	T	STXBP2	c.1695C>T	NM_001272034.1	NP_001258963.1:p.(Thr565=)	NC_000019.9:g.7712363C>T	(Likely) benign	1 lab	c8c77eb88a
11:134018707 JAM3 CGAG>C	11	134018707	134018714	CGAG	C	JAM3	c.896_897+1del	NM_032801.5	NP_116190.3:p.?	NC_000011.9:g.134018712_134018714del	VUS	1 lab	c86b6b8362
11:26681804 ANO3 T>G	11	26681804	26681804	T	G	ANO3	c.2947-5T>G	NM_001313726.1	NP_001300655.1:p.?	NC_000011.9:g.26681804T>G	VUS	1 lab	c86c2bf3e1
16:88880929 GALNS C>T	16	88880929	88880929	C	T	GALNS	c.1505G>A	NM_001323544.1	NP_001310473.1:p.(Trp502Ter)	NC_000016.9:g.88880929C>T	(Likely) pathogenic	1 lab	c86d39499b
17:7124931 ACADVL C>T	17	7124931	7124931	C	T	ACADVL	c.324C>T	NM_001270448.1	NP_001257377.1:p.(Ile108=)	NC_000017.10:g.7124931C>T	(Likely) benign	1 lab	c86da0c54e
13:101167813 PCCA G>A	13	101167813	101167813	G	A	PCCA	c.2032G>A	NM_000282.3	NP_000273.2:p.(Gly678Arg)	NC_000013.10:g.101167813G>A	VUS	1 lab	c87016a0a7
5:132939580 FSTL4 G>A	5	132939580	132939580	G	A	FSTL4	c.95C>T	NM_015082.2	NP_055897.1:p.(Pro32Leu)	NC_000005.9:g.132939580G>A	(Likely) benign	1 lab	c87246f88a
15:40330586 SRP14 C>T	15	40330586	40330586	C	T	SRP14	c.107G>A	NM_003134.5	NP_003125.3:p.(Arg36Gln)	NC_000015.9:g.40330586C>T	VUS	1 lab	c87310e0da
15:84909033 GOLGA6L4 G>T	15	84909033	84909033	G	T	GOLGA6L4	c.927G>T	NM_001267536.2	NP_001254465.2:p.(Gln309His)	NC_000015.9:g.84909033G>T	VUS	1 lab	c8731122c5
12:65672602 MSRB3 C>T	12	65672602	65672602	C	T	MSRB3	c.54C>T	NM_198080.3	NP_932346.1:p.(Cys18=)	NC_000012.11:g.65672602C>T	(Likely) benign	1 lab	c873c89ea2
X:107159223 MID2 CT>C	X	107159223	107159228	CT	C	MID2	c.1074-4del	NM_012216.4	NP_036348.2:p.?	NC_000023.10:g.107159228del	(Likely) benign	1 lab	c875128dff
16:2157931 PKD1 G>A	16	2157931	2157931	G	A	PKD1	c.7018C>T	NM_001009944.2	NP_001009944.2:p.(Leu2340=)	NC_000016.9:g.2157931G>A	(Likely) benign	1 lab	c875731a3f
2:175624261 CHRNA1 G>A	2	175624261	175624261	G	A	CHRNA1	c.144C>T	NM_001039523.2	NP_001034612.1:p.(Val48=)	NC_000002.11:g.175624261G>A	(Likely) benign	1 lab	c8762cd68a
6:13316876 TBC1D7 A>G	6	13316876	13316876	A	G	TBC1D7	c.446T>C	NM_016495.5	NP_057579.1:p.(Val149Ala)	NC_000006.11:g.13316876A>G	VUS	1 lab	c8774c46c3
19:1621150 TCF3 G>A	19	1621150	1621150	G	A	TCF3	c.996C>T	NM_003200.5	NP_003191.1:p.(Leu332=)	NC_000019.9:g.1621150G>A	(Likely) benign	1 lab	c8793d93a1
11:66472212 SPTBN2 C>T	11	66472212	66472212	C	T	SPTBN2	c.2535G>A	NM_006946.3	NP_008877.1:p.(Ala845=)	NC_000011.9:g.66472212C>T	(Likely) benign	1 lab	c882cb1e0c
22:20052092 TANGO2 G>A	22	20052092	20052092	G	A	TANGO2	c.859G>A	NM_001322144.1	NP_001309073.1:p.(Gly287Arg)	NC_000022.10:g.20052092G>A	VUS	1 lab	c883269be8
20:32436390 CHMP4B C>T	20	32436390	32436390	C	T	CHMP4B	c.308C>T	NM_176812.4	NP_789782.1:p.(Thr103Ile)	NC_000020.10:g.32436390C>T	VUS	1 lab	c88341d99f
7:116340239 MET C>A	7	116340239	116340239	C	A	MET	c.1101C>A	NM_001127500.1	NP_001120972.1:p.(Ile367=)	NC_000007.13:g.116340239C>A	(Likely) benign	1 lab	c8839a11bb
16:2134352 TSC2 C>T	16	2134352	2134352	C	T	TSC2	c.4129C>T	NM_000548.3	NP_000539.2:p.(Gln1377Ter)	NC_000016.9:g.2134352C>T	(Likely) pathogenic	1 lab	c8847c414d
X:99663275 PCDH19 G>A	X	99663275	99663275	G	A	PCDH19	c.321C>T	NM_001184880.1	NP_001171809.1:p.(Ser107=)	NC_000023.10:g.99663275G>A	(Likely) benign	1 lab	c885586489
21:46875623 COL18A1 C>T	21	46875623	46875623	C	T	COL18A1	c.179C>T	NM_130444.3	NP_569711.2:p.(Thr60Ile)	NC_000021.8:g.46875623C>T	VUS	1 lab	c8870fe5a4
16:69727936 NFAT5 A>G	16	69727936	69727936	A	G	NFAT5	c.3926A>G	NM_138714.3	NP_619728.2:p.(Gln1309Arg)	NC_000016.9:g.69727936A>G	VUS	1 lab	c88a266084
11:17600037 OTOG G>T	11	17600037	17600037	G	T	OTOG	c.2759G>T	NM_001277269.1	NP_001264198.1:p.(Arg920Leu)	NC_000011.9:g.17600037G>T	(Likely) benign	1 lab	c88ad3d083
22:51158710 MISSING C>A	22	51158710	51158710	C	A	MISSING				NC_000022.10:g.51158710C>A	VUS	1 lab	c88bcf6756
2:179475987 TTN T>C	2	179475987	179475987	T	C	TTN	c.50869A>G	NM_001267550.1	NP_001254479.1:p.(Ile16957Val)	NC_000002.11:g.179475987T>C	VUS	1 lab	c88f70baaa
4:6302590 WFS1 C>T	4	6302590	6302590	C	T	WFS1	c.1068C>T	NM_006005.3	NP_005996.2:p.(Ser356=)	NC_000004.11:g.6302590C>T	(Likely) benign	1 lab	c8936d7c8d
2:179426671 TTN C>T	2	179426671	179426671	C	T	TTN	c.84188G>A	NM_001267550.1	NP_001254479.1:p.(Arg28063His)	NC_000002.11:g.179426671C>T	VUS	1 lab	c893c504e8
14:105412717 AHNAK2 G>A	14	105412717	105412717	G	A	AHNAK2	c.9071C>T	NM_138420.3	NP_612429.2:p.(Thr3024Ile)	NC_000014.8:g.105412717G>A	(Likely) benign	1 lab	c893fdc0e9
22:26270322 MYO18B G>A	22	26270322	26270322	G	A	MYO18B	c.4024G>A	NM_001318245.1	NP_001305174.1:p.(Val1342Ile)	NC_000022.10:g.26270322G>A	(Likely) benign	1 lab	c894e42f05
7:6075264 ANKRD61 A>C	7	6075264	6075264	A	C	ANKRD61	c.504A>C	NM_001271700.1	NP_001258629.1:p.(Lys168Asn)	NC_000007.13:g.6075264A>C	(Likely) benign	1 lab	c8979cfbdd
18:67866755 RTTN G>A	18	67866755	67866755	G	A	RTTN	c.488-15C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67866755G>A	(Likely) benign	1 lab	c89bccad54
15:51750939 DMXL2 T>A	15	51750939	51750939	T	A	DMXL2	c.7980A>T	NM_001174116.1	NP_001167587.1:p.(Glu2660Asp)	NC_000015.9:g.51750939T>A	VUS	1 lab	c89bf2313f
10:97983571 BLNK A>AC	10	97983571	97983572	A	AC	BLNK	c.525+10_525+11insG	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.97983571_97983572insC	(Likely) benign	1 lab	c89c726059
X:47307024 ZNF41 T>C	X	47307024	47307024	T	C	ZNF41	c.2145A>G	NM_007130.3	NP_009061.1:p.(Gly715=)	NC_000023.10:g.47307024T>C	(Likely) benign	1 lab	c89f34b2f3
1:17318817 ATP13A2 C>T	1	17318817	17318817	C	T	ATP13A2	c.1911G>A	NM_001141973.2	NP_001135445.1:p.(Ala637=)	NC_000001.10:g.17318817C>T	(Likely) benign	1 lab	c89fa5067f
1:44415091 IPO13 G>A	1	44415091	44415091	G	A	IPO13	c.87G>A	NM_014652.4	NP_055467.3:p.(Ala29=)	NC_000001.10:g.44415091G>A	(Likely) benign	1 lab	c8a164d4cb
11:59562908 STX3 C>G	11	59562908	59562908	C	G	STX3	c.739C>G	NM_004177.4	NP_004168.1:p.(Arg247Gly)	NC_000011.9:g.59562908C>G	VUS	1 lab	c8a2d2dcc1
6:86238016 SNX14 T>C	6	86238016	86238016	T	C	SNX14	c.2022A>G	NM_001350532.1	NP_001337461.1:p.(Leu674=)	NC_000006.11:g.86238016T>C	(Likely) benign	1 lab	c8a45047b1
8:145620471 CPSF1 C>T	8	145620471	145620471	C	T	CPSF1	c.3187+9G>A	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145620471C>T	(Likely) benign	1 lab	c8a5071b83
17:41258561 BRCA1 TAAAG>T	17	41258561	41258575	TAAAG	T	BRCA1	c.135-15_135-12del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258572_41258575del	(Likely) benign	1 lab	c8a58f68d1
1:35863144 ZMYM4 G>C	1	35863144	35863144	G	C	ZMYM4	c.2225G>C	NM_001350139.1	NP_001337068.1:p.(Gly742Ala)	NC_000001.10:g.35863144G>C	VUS	1 lab	c8aabda556
2:179522697 TTN A>T	2	179522697	179522697	A	T	TTN	c.37793-9T>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179522697A>T	(Likely) benign	1 lab	c8aba7b4f0
12:123738503 MTRFR G>A	12	123738503	123738503	G	A	MTRFR	c.282G>A	NM_001194995.1	NP_001181924.1:p.(Lys94=)	NC_000012.11:g.123738503G>A	VUS	1 lab	c8ac300b5f
1:226109969 PYCR2 CG>C	1	226109969	226109971	CG	C	PYCR2	c.252del	NM_013328.4	NP_037460.2:p.(Asp85ThrfsTer24)	NC_000001.10:g.226109971del	(Likely) pathogenic	1 lab	c8acac20b3
1:215901704 USH2A C>T	1	215901704	215901704	C	T	USH2A	c.11734G>A	NM_206933.2	NP_996816.2:p.(Glu3912Lys)	NC_000001.10:g.215901704C>T	VUS	1 lab	c8ad5cbed0
5:140741031 PCDHGB2 C>T	5	140741031	140741031	C	T	PCDHGB2	c.1329C>T	NM_018923.2	NP_061746.1:p.(Ser443=)	NC_000005.9:g.140741031C>T	(Likely) benign	1 lab	c8ad6c0c02
21:46897893 COL18A1 T>TC	21	46897893	46897899	T	TC	COL18A1	c.1221+20dup	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46897899dup	(Likely) benign	1 lab	c8ae286474
4:39512147 UGDH C>T	4	39512147	39512147	C	T	UGDH	c.489G>A	NM_003359.4	NP_003350.1:p.(Leu163=)	NC_000004.11:g.39512147C>T	(Likely) benign	1 lab	c8aefd849a
17:73753138 ITGB4 G>C	17	73753138	73753138	G	C	ITGB4	c.5168G>C	NM_000213.4	NP_000204.3:p.(Gly1723Ala)	NC_000017.10:g.73753138G>C	VUS	1 lab	c8b0c426ff
19:19651230 CILP2 G>A	19	19651230	19651230	G	A	CILP2	c.381G>A	NM_153221.2	NP_694953.2:p.(Glu127=)	NC_000019.9:g.19651230G>A	(Likely) benign	1 lab	c8b17616cb
9:123837022 C5 G>A	9	123837022	123837022	G	A	C5	c.83+10C>T	NM_001317163.1	NP_001304092.1:p.?	NC_000009.11:g.123837022G>A	(Likely) benign	1 lab	c8b2f9a38a
12:49426729 KMT2D A>T	12	49426729	49426729	A	T	KMT2D	c.11759T>A	NM_003482.3	NP_003473.3:p.(Leu3920Gln)	NC_000012.11:g.49426729A>T	VUS	1 lab	c8b6b60ab5
14:21853994 CHD8 ATGGTGATGG>A	14	21853994	21854015	ATGGTGATGG	A	CHD8	c.7515_7523del	NM_001170629.2	NP_001164100.1:p.(His2506_His2508del)	NC_000014.8:g.21854007_21854015del	VUS	1 lab	c8b6e0de88
9:79917922 VPS13A G>A	9	79917922	79917922	G	A	VPS13A	c.3904G>A	NM_033305.2	NP_150648.2:p.(Glu1302Lys)	NC_000009.11:g.79917922G>A	(Likely) benign	1 lab	c8b77cf6f6
9:141013155 CACNA1B C>G	9	141013155	141013155	C	G	CACNA1B	c.5965C>G	NM_000718.3	NP_000709.1:p.(Pro1989Ala)	NC_000009.11:g.141013155C>G	(Likely) benign	1 lab	c8b8fcce79
7:6017317 PMS2 C>T	7	6017317	6017317	C	T	PMS2	c.2347G>A	NM_000535.5	NP_000526.1:p.(Val783Ile)	NC_000007.13:g.6017317C>T	(Likely) benign	1 lab	c8b90c1e40
3:142185161 ATR T>C	3	142185161	142185161	T	C	ATR	c.6897+5A>G	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142185161T>C	VUS	1 lab	0166151df2
12:32893124 DNM1L A>T	12	32893124	32893124	A	T	DNM1L	c.1873A>T	NM_001278464.1	NP_001265393.1:p.(Ile625Phe)	NC_000012.11:g.32893124A>T	(Likely) benign	1 lab	c8ba0dd3c9
19:50162897 IRF3 G>T	19	50162897	50162897	G	T	IRF3	c.1308C>A	NM_001197122.1	NP_001184051.1:p.(Arg436=)	NC_000019.9:g.50162897G>T	(Likely) benign	1 lab	c8bc1d1c8a
21:46925335 COL18A1 C>T	21	46925335	46925335	C	T	COL18A1	c.4313C>T	NM_130444.3	NP_569711.2:p.(Ala1438Val)	NC_000021.8:g.46925335C>T	(Likely) benign	1 lab	c8bd635cfd
11:71725130 NUMA1 T>C	11	71725130	71725130	T	C	NUMA1	c.3419A>G	NM_001286561.1	NP_001273490.1:p.(Gln1140Arg)	NC_000011.9:g.71725130T>C	(Likely) benign	1 lab	c8bdfe23fc
X:17745441 NHS C>T	X	17745441	17745441	C	T	NHS	c.3215C>T	NM_001291867.1	NP_001278796.1:p.(Thr1072Ile)	NC_000023.10:g.17745441C>T	(Likely) benign	1 lab	c8bf989b59
21:47549240 COL6A2 G>A	21	47549240	47549240	G	A	COL6A2	c.2592G>A	NM_058174.2	NP_478054.2:p.(Pro864=)	NC_000021.8:g.47549240G>A	(Likely) benign	1 lab	c8c3d0fd3c
17:70120178 SOX9 C>T	17	70120178	70120178	C	T	SOX9	c.1180C>T	NM_000346.3	NP_000337.1:p.(Arg394Ter)	NC_000017.10:g.70120178C>T	(Likely) pathogenic	1 lab	c8c45190bd
17:29654717 NF1 TA>T	17	29654717	29654718	TA	T	NF1	c.5470del	NM_001042492.3	NP_001035957.1:p.(Ile1824SerfsTer39)	NC_000017.10:g.29654718del	(Likely) pathogenic	1 lab	c8d0b4419d
4:151829543 LRBA A>C	4	151829543	151829543	A	C	LRBA	c.1436T>G	NM_001199282.2	NP_001186211.2:p.(Leu479Arg)	NC_000004.11:g.151829543A>C	VUS	1 lab	c8c65368be
20:44641151 MMP9 C>A	20	44641151	44641151	C	A	MMP9	c.1260C>A	NM_004994.2	NP_004985.2:p.(Tyr420Ter)	NC_000020.10:g.44641151C>A	VUS	1 lab	c8c6de90d4
19:10334590 S1PR2 G>C	19	10334590	10334590	G	C	S1PR2	c.992C>G	NM_004230.4	NP_004221.3:p.(Ser331Cys)	NC_000019.9:g.10334590G>C	VUS	1 lab	c8ca1624f7
17:70120318 SOX9 C>T	17	70120318	70120318	C	T	SOX9	c.1320C>T	NM_000346.3	NP_000337.1:p.(Tyr440=)	NC_000017.10:g.70120318C>T	(Likely) benign	1 lab	c8cb6a9aa8
3:46450501 CCRL2 C>T	3	46450501	46450501	C	T	CCRL2	c.931C>T	NM_003965.5	NP_003956.2:p.(Leu311Phe)	NC_000003.11:g.46450501C>T	VUS	1 lab	c8cdcb197a
10:112540672 RBM20 G>A	10	112540672	112540672	G	A	RBM20	c.305G>A	NM_001134363.1	NP_001127835.1:p.(Arg102Gln)	NC_000010.10:g.112540672G>A	VUS	1 lab	c8cf91fcf8
17:79875836 SIRT7 C>T	17	79875836	79875836	C	T	SIRT7	c.101G>A	NM_016538.3	NP_057622.1:p.(Arg34His)	NC_000017.10:g.79875836C>T	(Likely) benign	1 lab	c8cfbba57f
19:1456884 APC2 G>A	19	1456884	1456884	G	A	APC2	c.849G>A	NM_005883.2	NP_005874.1:p.(Leu283=)	NC_000019.9:g.1456884G>A	(Likely) benign	1 lab	c8cfd28ec8
3:98512522 ST3GAL6 G>A	3	98512522	98512522	G	A	ST3GAL6	c.655G>A	NM_001323360.1	NP_001310289.1:p.(Ala219Thr)	NC_000003.11:g.98512522G>A	(Likely) benign	1 lab	c8d394e8e6
3:49736940 RNF123 GA>G	3	49736940	49736941	GA	G	RNF123	c.805del	NM_022064.5	NP_071347.2:p.(Ser269ValfsTer18)	NC_000003.11:g.49736941del	VUS	1 lab	c8d747de96
1:154408483 IL6R C>T	1	154408483	154408483	C	T	IL6R	c.846C>T	NM_000565.3	NP_000556.1:p.(Ala282=)	NC_000001.10:g.154408483C>T	(Likely) benign	1 lab	c8dc83c762
1:9323786 H6PD G>A	1	9323786	9323786	G	A	H6PD	c.1234G>A	NM_004285.3	NP_004276.2:p.(Val412Met)	NC_000001.10:g.9323786G>A	VUS	1 lab	c8dd9b334c
21:46888469 COL18A1 A>G	21	46888469	46888469	A	G	COL18A1	c.420A>G	NM_130445.2	NP_569712.2:p.(Thr140=)	NC_000021.8:g.46888469A>G	(Likely) benign	1 lab	c8e0de69ab
15:72668306 HEXA C>G	15	72668306	72668306	C	G	HEXA	c.8G>C	NM_001318825.1	NP_001305754.1:p.(Ser3Thr)	NC_000015.9:g.72668306C>G	(Likely) benign	1 lab	c8e0e36627
11:67812524 TCIRG1 A>ATCG	11	67812524	67812528	A	ATCG	TCIRG1	c.1122_1124dup	NM_006019.2	NP_006010.2:p.(Val375dup)	NC_000011.9:g.67812526_67812528dup	VUS	1 lab	c8e1e5a16d
2:179400726 TTN G>T	2	179400726	179400726	G	T	TTN	c.100748C>A	NM_001267550.1	NP_001254479.1:p.(Ala33583Asp)	NC_000002.11:g.179400726G>T	VUS	1 lab	c8e2b72ada
1:1666167 SLC35E2A C>T	1	1666167	1666167	C	T	SLC35E2A	n.1188G>A	NR_173244.1		NC_000001.10:g.1666167C>T	(Likely) benign	1 lab	10f1376b74
12:133306512 ANKLE2 G>A	12	133306512	133306512	G	A	ANKLE2	c.2236C>T	NM_015114.2	NP_055929.1:p.(Arg746Cys)	NC_000012.11:g.133306512G>A	(Likely) benign	1 lab	c8e4785f79
X:79286390 TBX22 A>T	X	79286390	79286390	A	T	TBX22	c.1343A>T	NM_001109878.1	NP_001103348.1:p.(Gln448Leu)	NC_000023.10:g.79286390A>T	(Likely) benign	1 lab	c8e68f3195
16:57687232 ADGRG1 C>A	16	57687232	57687232	C	A	ADGRG1	c.605C>A	NM_001145772.2	NP_001139244.1:p.(Ala202Asp)	NC_000016.9:g.57687232C>A	(Likely) benign	1 lab	c8e6e3d636
9:2718067 KCNV2 C>T	9	2718067	2718067	C	T	KCNV2	c.328C>T	NM_133497.3	NP_598004.1:p.(Leu110=)	NC_000009.11:g.2718067C>T	(Likely) benign	1 lab	c8e981cbd1
10:81925902 ANXA11 T>C	10	81925902	81925902	T	C	ANXA11	c.796A>G	NM_145868.2	NP_665875.1:p.(Ile266Val)	NC_000010.10:g.81925902T>C	(Likely) benign	1 lab	c8eae72331
X:153061941 SSR4 C>T	X	153061941	153061941	C	T	SSR4	c.144C>T	NM_001204527.1	NP_001191456.1:p.(Asp48=)	NC_000023.10:g.153061941C>T	(Likely) benign	1 lab	c8eb53ef19
X:122538591 GRIA3 T>C	X	122538591	122538591	T	C	GRIA3	c.1326T>C	NM_000828.4	NP_000819.3:p.(His442=)	NC_000023.10:g.122538591T>C	(Likely) benign	1 lab	c8ebc3043f
18:28648197 DSC2 CAA>C	18	28648197	28648199	CAA	C	DSC2	c.2509-21_2509-20del	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28648198_28648199del	(Likely) benign	1 lab	c8ebd1e437
11:110104136 RDX A>AG	11	110104136	110104143	A	AG	RDX	c.1412dup	NM_002906.3	NP_002897.1:p.(Pro472SerfsTer16)	NC_000011.9:g.110104143dup	(Likely) pathogenic	1 lab	c8ee22c1ed
17:29556987 NF1 G>C	17	29556987	29556987	G	C	NF1	c.2985G>C	NM_000267.3	NP_000258.1:p.(Leu995=)	NC_000017.10:g.29556987G>C	(Likely) benign	1 lab	c8eefae22f
9:139910227 ABCA2 G>A	9	139910227	139910227	G	A	ABCA2	c.3414C>T	NM_001606.5	NP_001597.2:p.(Phe1138=)	NC_000009.11:g.139910227G>A	(Likely) benign	1 lab	c8f1190519
4:6292973 WFS1 C>G	4	6292973	6292973	C	G	WFS1	c.510C>G	NM_006005.3	NP_005996.2:p.(Thr170=)	NC_000004.11:g.6292973C>G	(Likely) benign	1 lab	c8f1526b66
10:50714021 ERCC6 G>A	10	50714021	50714021	G	A	ERCC6	c.1435C>T	NM_000124.2	NP_000115.1:p.(Arg479Cys)	NC_000010.10:g.50714021G>A	(Likely) benign	1 lab	c8f2704d86
7:40498796 SUGCT C>T	7	40498796	40498796	C	T	SUGCT	c.1006C>T	NM_001193311.1	NP_001180240.1:p.(Arg336Trp)	NC_000007.13:g.40498796C>T	VUS	1 lab	c8f4ebff67
17:48148826 ITGA3 G>A	17	48148826	48148826	G	A	ITGA3	c.903G>A	NM_002204.3	NP_002195.1:p.(Ser301=)	NC_000017.10:g.48148826G>A	(Likely) benign	1 lab	c8f4fde6bc
17:18074990 MYO15A G>A	17	18074990	18074990	G	A	MYO15A	c.10121G>A	NM_016239.3	NP_057323.3:p.(Arg3374His)	NC_000017.10:g.18074990G>A	(Likely) benign	1 lab	c8f5f7eeb4
20:10621922 JAG1 TG>T	20	10621922	10621923	TG	T	JAG1	c.2917-31del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621923del	(Likely) benign	1 lab	c8f5f8596a
9:116152915 ALAD G>A	9	116152915	116152915	G	A	ALAD	c.526C>T	NM_001003945.2	NP_001003945.1:p.(Arg176Cys)	NC_000009.11:g.116152915G>A	(Likely) benign	1 lab	c8f6ad9c57
X:110497596 CAPN6 G>A	X	110497596	110497596	G	A	CAPN6	c.201C>T	NM_014289.3	NP_055104.2:p.(Asn67=)	NC_000023.10:g.110497596G>A	(Likely) benign	1 lab	c8f8ab0ae3
X:48116740 SSX1 A>C	X	48116740	48116740	A	C	SSX1	c.64A>C	NM_001278691.1	NP_001265620.1:p.(Ser22Arg)	NC_000023.10:g.48116740A>C	(Likely) benign	1 lab	c8fa64d369
1:183085818 LAMC1 A>G	1	183085818	183085818	A	G	LAMC1	c.1427+8A>G	NM_002293.3	NP_002284.3:p.?	NC_000001.10:g.183085818A>G	(Likely) benign	1 lab	c8fb6220b7
6:51612936 PKHD1 G>A	6	51612936	51612936	G	A	PKHD1	c.9478C>T	NM_138694.3	NP_619639.3:p.(His3160Tyr)	NC_000006.11:g.51612936G>A	VUS	1 lab	c8ffcd715b
X:150349820 GPR50 GACCCT>G	X	150349820	150349827	GACCCT	G	GPR50	c.1768_1772del	NM_004224.3	NP_004215.2:p.(Pro590CysfsTer8)	NC_000023.10:g.150349823_150349827del	VUS	1 lab	c901c703ca
1:63010649 DOCK7 G>A	1	63010649	63010649	G	A	DOCK7	c.2828C>T	NM_001367561.1	NP_001354490.1:p.(Ser943Phe)	NC_000001.10:g.63010649G>A	(Likely) benign	1 lab	c90425bc7b
14:105411764 AHNAK2 C>G	14	105411764	105411764	C	G	AHNAK2	c.10024G>C	NM_138420.3	NP_612429.2:p.(Val3342Leu)	NC_000014.8:g.105411764C>G	VUS	1 lab	c9067ab2c9
1:26386799 TRIM63 C>T	1	26386799	26386799	C	T	TRIM63	c.555G>A	NM_032588.3	NP_115977.2:p.(Gln185=)	NC_000001.10:g.26386799C>T	(Likely) benign	1 lab	c907e19663
X:23411652 PTCHD1 G>C	X	23411652	23411652	G	C	PTCHD1	c.2017G>C	NM_173495.2	NP_775766.2:p.(Val673Leu)	NC_000023.10:g.23411652G>C	(Likely) benign	1 lab	c909f7b300
2:179436747 TTN A>T	2	179436747	179436747	A	T	TTN	c.74112T>A	NM_001267550.1	NP_001254479.1:p.(Ser24704Arg)	NC_000002.11:g.179436747A>T	VUS	1 lab	c90ae93f08
8:55538458 RP1 G>T	8	55538458	55538458	G	T	RP1	c.2016G>T	NM_006269.1	NP_006260.1:p.(Lys672Asn)	NC_000008.10:g.55538458G>T	VUS	1 lab	c90b392a9c
9:114337125 PTGR1 A>G	9	114337125	114337125	A	G	PTGR1	c.652-3T>C	NM_001146108.2	NP_001139580.1:p.?	NC_000009.11:g.114337125A>G	(Likely) benign	1 lab	c90b42f86c
20:50273530 ATP9A C>G	20	50273530	50273530	C	G	ATP9A	c.1453G>C	NM_006045.2	NP_006036.1:p.(Glu485Gln)	NC_000020.10:g.50273530C>G	VUS	1 lab	c90b7b28b8
7:44184763 GCK C>A	7	44184763	44184763	C	A	GCK	c.1370G>T	NM_000162.5	NP_000153.1:p.(Cys457Phe)	NC_000007.13:g.44184763C>A	VUS	1 lab	0168c4e771
X:37965900 SYTL5 G>A	X	37965900	37965900	G	A	SYTL5	c.1210G>A	NM_001163335.1	NP_001156807.1:p.(Val404Met)	NC_000023.10:g.37965900G>A	VUS	1 lab	c9123dea24
8:145584358 SLC52A2 G>A	8	145584358	145584358	G	A	SLC52A2	c.1110G>A	NM_024531.4	NP_078807.1:p.(Ala370=)	NC_000008.10:g.145584358G>A	(Likely) benign	1 lab	c9127a83ec
3:75788010 ZNF717 A>C	3	75788010	75788010	A	C	ZNF717	c.764T>G	NM_001128223.3	NP_001121695.1:p.(Val255Gly)	NC_000003.11:g.75788010A>C	(Likely) benign	1 lab	c9128a6ee2
14:75078618 LTBP2 C>A	14	75078618	75078618	C	A	LTBP2	c.30G>T	NM_000428.2	NP_000419.1:p.(Pro10=)	NC_000014.8:g.75078618C>A	VUS	1 lab	c912c1aced
7:91842705 KRIT1 GT>A	7	91842705	91842706	GT	A	KRIT1	c.1828_1829delinsT	NM_004912.4	NP_004903.2:p.(Thr610Ter)	NC_000007.13:g.91842705_91842706delinsA	(Likely) pathogenic	1 lab	c9142c6a41
22:51169504 MISSING C>A	22	51169504	51169504	C	A	MISSING				NC_000022.10:g.51169504C>A	(Likely) benign	1 lab	c91459d9ea
7:21920460 DNAH11 C>G	7	21920460	21920460	C	G	DNAH11				NC_000007.13:g.21920460C>G	VUS	1 lab	c91517b42f
4:533124 PIGG C>T	4	533124	533124	C	T	PIGG	c.2918C>T	NM_001127178.2	NP_001120650.1:p.(Thr973Met)	NC_000004.11:g.533124C>T	VUS	1 lab	c918663bf9
X:49138466 PPP1R3F G>A	X	49138466	49138466	G	A	PPP1R3F	c.1083G>A	NM_033215.4	NP_149992.3:p.(Glu361=)	NC_000023.10:g.49138466G>A	(Likely) benign	1 lab	c91a919318
1:236175351 NID1 A>G	1	236175351	236175351	A	G	NID1	c.2405-8T>C	NM_002508.2	NP_002499.2:p.?	NC_000001.10:g.236175351A>G	(Likely) benign	1 lab	c91bd8b690
20:62194482 HELZ2 G>A	20	62194482	62194482	G	A	HELZ2	c.5693C>T	NM_001037335.2	NP_001032412.2:p.(Pro1898Leu)	NC_000020.10:g.62194482G>A	VUS	1 lab	c91c6b3979
12:80707293 OTOGL A>G	12	80707293	80707293	A	G	OTOGL	c.3461A>G	NM_173591.3	NP_775862.3:p.(Asp1154Gly)	NC_000012.11:g.80707293A>G	VUS	1 lab	c91c733187
14:23995073 ZFHX2 G>C	14	23995073	23995073	G	C	ZFHX2	c.4078C>G	NM_033400.3	NP_207646.2:p.(Gln1360Glu)	NC_000014.8:g.23995073G>C	(Likely) benign	1 lab	c91cb3163e
19:46308278 RSPH6A C>A	19	46308278	46308278	C	A	RSPH6A	c.889-4G>T	NM_030785.4	NP_110412.1:p.?	NC_000019.9:g.46308278C>A	(Likely) benign	1 lab	c91d3f2d6f
1:10434404 KIF1B T>C	1	10434404	10434404	T	C	KIF1B				NC_000001.10:g.10434404T>C	(Likely) benign	1 lab	c920f507d9
16:70935093 HYDIN C>T	16	70935093	70935093	C	T	HYDIN	c.8862G>A	NM_001270974.2	NP_001257903.1:p.(Arg2954=)	NC_000016.9:g.70935093C>T	(Likely) benign	1 lab	c9217940dc
6:144780437 UTRN G>A	6	144780437	144780437	G	A	UTRN	c.2654G>A	NM_007124.2	NP_009055.2:p.(Arg885His)	NC_000006.11:g.144780437G>A	(Likely) benign	1 lab	c921f6a3d9
4:123868541 AFG2A C>T	4	123868541	123868541	C	T	AFG2A	c.1612C>T	NM_145207.2	NP_660208.2:p.(Arg538Ter)	NC_000004.11:g.123868541C>T	(Likely) pathogenic	1 lab	c9221c7dd7
1:94473267 ABCA4 G>A	1	94473267	94473267	G	A	ABCA4	c.5928C>T	NM_000350.2	NP_000341.2:p.(Ala1976=)	NC_000001.10:g.94473267G>A	(Likely) benign	1 lab	c92289ce7d
X:5821783 NLGN4X C>T	X	5821783	5821783	C	T	NLGN4X	c.936G>A	NM_001282145.1	NP_001269074.1:p.(Thr312=)	NC_000023.10:g.5821783C>T	(Likely) benign	1 lab	c92320699a
1:198672439 PTPRC A>G	1	198672439	198672439	A	G	PTPRC	c.596A>G	NM_002838.4	NP_002829.3:p.(Asn199Ser)	NC_000001.10:g.198672439A>G	(Likely) benign	1 lab	c923cf4369
14:21993455 SALL2 C>T	14	21993455	21993455	C	T	SALL2	c.407G>A	NM_005407.2	NP_005398.2:p.(Gly136Glu)	NC_000014.8:g.21993455C>T	VUS	1 lab	c92666fdec
2:196602786 DNAH7 A>T	2	196602786	196602786	A	T	DNAH7	c.11934T>A	NM_018897.3	NP_061720.2:p.(Tyr3978Ter)	NC_000002.11:g.196602786A>T	VUS	1 lab	c926779d61
X:136649302 ZIC3 C>G	X	136649302	136649302	C	G	ZIC3	c.452C>G	NM_003413.3	NP_003404.1:p.(Ala151Gly)	NC_000023.10:g.136649302C>G	(Likely) benign	1 lab	c926e069e3
X:151092181 MAGEA4 C>T	X	151092181	151092181	C	T	MAGEA4	c.45C>T	NM_002362.4	NP_002353.3:p.(Gly15=)	NC_000023.10:g.151092181C>T	VUS	1 lab	c9275e7ac2
10:70748617 KIFBP G>T	10	70748617	70748617	G	T	KIFBP	c.29G>T	NM_015634.3	NP_056449.1:p.(Cys10Phe)	NC_000010.10:g.70748617G>T	VUS	1 lab	c92765c7d5
17:7919158 GUCY2D G>A	17	7919158	7919158	G	A	GUCY2D	c.3042G>A	NM_000180.3	NP_000171.1:p.(Leu1014=)	NC_000017.10:g.7919158G>A	(Likely) benign	1 lab	c927b5695a
14:102505389 DYNC1H1 T>A	14	102505389	102505389	T	A	DYNC1H1	c.11258T>A	NM_001376.4	NP_001367.2:p.(Leu3753Gln)	NC_000014.8:g.102505389T>A	VUS	1 lab	c92a08a4f4
13:25486874 CPAP G>GT	13	25486874	25486875	G	GT	CPAP	c.289dup	NM_018451.4	NP_060921.3:p.(Thr97AsnfsTer7)	NC_000013.10:g.25486875dup	(Likely) pathogenic	1 lab	c92a3bd1c9
2:179534360 TTN C>T	2	179534360	179534360	C	T	TTN	c.35429G>A	NM_001267550.1	NP_001254479.1:p.(Arg11810His)	NC_000002.11:g.179534360C>T	VUS	1 lab	c92b6c7552
18:46904963 DYM T>C	18	46904963	46904963	T	C	DYM	c.395A>G	NM_017653.4	NP_060123.3:p.(Tyr132Cys)	NC_000018.9:g.46904963T>C	(Likely) benign	1 lab	c92e76bea8
1:216221987 USH2A T>G	1	216221987	216221987	T	G	USH2A	c.6052A>C	NM_206933.2	NP_996816.2:p.(Ile2018Leu)	NC_000001.10:g.216221987T>G	VUS	1 lab	c930cddd62
5:149582145 SLC6A7 C>T	5	149582145	149582145	C	T	SLC6A7	c.966C>T	NM_014228.5	NP_055043.2:p.(Asp322=)	NC_000005.9:g.149582145C>T	(Likely) benign	1 lab	c932038961
1:147380415 GJA8 G>A	1	147380415	147380415	G	A	GJA8	c.333G>A	NM_005267.4	NP_005258.2:p.(Ala111=)	NC_000001.10:g.147380415G>A	(Likely) benign	1 lab	c9327febed
17:80789462 ZNF750 G>A	17	80789462	80789462	G	A	ZNF750	c.869C>T	NM_024702.2	NP_078978.2:p.(Pro290Leu)	NC_000017.10:g.80789462G>A	VUS	1 lab	c93287f779
11:30032606 KCNA4 G>A	11	30032606	30032606	G	A	KCNA4	c.1620C>T	NM_002233.3	NP_002224.1:p.(Val540=)	NC_000011.9:g.30032606G>A	(Likely) benign	1 lab	c932e44b47
16:2126533 TSC2 C>T	16	2126533	2126533	C	T	TSC2	c.2784C>T	NM_001114382.2	NP_001107854.1:p.(Pro928=)	NC_000016.9:g.2126533C>T	(Likely) benign	1 lab	c9334d7db5
16:88783097 PIEZO1 C>T	16	88783097	88783097	C	T	PIEZO1	c.6796G>A	NM_001142864.4	NP_001136336.2:p.(Val2266Ile)	NC_000016.9:g.88783097C>T	(Likely) benign	1 lab	c934950bd7
3:43414218 ANO10 A>G	3	43414218	43414218	A	G	ANO10	c.*33+2T>C	NM_001204831.2	NP_001191760.1:p.?	NC_000003.11:g.43414218A>G	VUS	1 lab	c9360c6312
13:25486145 CPAP CTG>C	13	25486145	25486148	CTG	C	CPAP	c.505_506del	NM_018451.5	NP_060921.3:p.(Gln169GlufsTer27)	NC_000013.10:g.25486147_25486148del	(Likely) pathogenic	1 lab	c937a82cb6
14:24626590 RNF31 T>G	14	24626590	24626590	T	G	RNF31	c.2585T>G	NM_017999.5	NP_060469.4:p.(Met862Arg)	NC_000014.8:g.24626590T>G	VUS	1 lab	c937bb74a9
16:31088931 ZNF646 G>C	16	31088931	31088931	G	C	ZNF646	c.1286G>C	NM_014699.3	NP_055514.3:p.(Gly429Ala)	NC_000016.9:g.31088931G>C	VUS	1 lab	c93a0888e3
6:109787070 ZBTB24 C>T	6	109787070	109787070	C	T	ZBTB24	c.2078G>A	NM_014797.2	NP_055612.2:p.(Gly693Asp)	NC_000006.11:g.109787070C>T	(Likely) benign	1 lab	c93a5a7315
4:39271702 WDR19 C>T	4	39271702	39271702	C	T	WDR19	c.3465C>T	NM_025132.3	NP_079408.3:p.(His1155=)	NC_000004.11:g.39271702C>T	(Likely) benign	1 lab	c93a9d58c3
X:134983723 SAGE1 G>T	X	134983723	134983723	G	T	SAGE1	c.93G>T	NM_018666.2	NP_061136.2:p.(Met31Ile)	NC_000023.10:g.134983723G>T	(Likely) benign	1 lab	c93b99d1a4
11:71817015 LRTOMT A>G	11	71817015	71817015	A	G	LRTOMT	c.117A>G	NM_001145309.3	NP_001138781.1:p.(Ala39=)	NC_000011.9:g.71817015A>G	(Likely) benign	1 lab	c93beb3d31
11:111657216 ALG9 C>A	11	111657216	111657216	C	A	ALG9	c.1762G>T	NM_024740.2	NP_079016.2:p.(Val588Phe)	NC_000011.9:g.111657216C>A	VUS	1 lab	c93dc7521f
6:43304973 ZNF318 C>A	6	43304973	43304973	C	A	ZNF318	c.6763G>T	NM_014345.3	NP_055160.2:p.(Val2255Phe)	NC_000006.11:g.43304973C>A	(Likely) benign	1 lab	c93ea7ab1b
X:30260296 MAGEB4 G>A	X	30260296	30260296	G	A	MAGEB4	c.44G>A	NM_002367.3	NP_002358.1:p.(Arg15His)	NC_000023.10:g.30260296G>A	(Likely) benign	1 lab	c942b9459f
15:72103108 NR2E3 A>G	15	72103108	72103108	A	G	NR2E3	c.25A>G	NM_016346.3	NP_057430.1:p.(Met9Val)	NC_000015.9:g.72103108A>G	(Likely) benign	1 lab	c9434bcde3
16:2134342 TSC2 CCT>C	16	2134342	2134347	CCT	C	TSC2	c.4123_4124del	NM_000548.5	NP_000539.2:p.(Ser1375LeufsTer38)	NC_000016.9:g.2134346_2134347del	(Likely) pathogenic	1 lab	c94469f427
18:47500907 MYO5B G>A	18	47500907	47500907	G	A	MYO5B	c.1135C>T	NM_001080467.2	NP_001073936.1:p.(Arg379Cys)	NC_000018.9:g.47500907G>A	VUS	1 lab	c944a9e11c
X:118893548 SOWAHD C>T	X	118893548	118893548	C	T	SOWAHD	c.918C>T	NM_001105576.3	NP_001099046.1:p.(Arg306=)	NC_000023.10:g.118893548C>T	(Likely) benign	1 lab	c94694edf6
X:150844499 PASD1 C>T	X	150844499	150844499	C	T	PASD1	c.2206C>T	NM_173493.2	NP_775764.2:p.(Pro736Ser)	NC_000023.10:g.150844499C>T	(Likely) benign	1 lab	c94a077330
7:150761959 SLC4A2 G>A	7	150761959	150761959	G	A	SLC4A2	c.484G>A	NM_001199692.2	NP_001186621.1:p.(Ala162Thr)	NC_000007.13:g.150761959G>A	(Likely) benign	1 lab	c94a9a4c2a
7:5781176 RNF216 G>A	7	5781176	5781176	G	A	RNF216	c.472C>T	NM_207111.3	NP_996994.1:p.(Pro158Ser)	NC_000007.13:g.5781176G>A	VUS	1 lab	c94ac89800
9:98775029 ERCC6L2 C>A	9	98775029	98775029	C	A	ERCC6L2	c.4230C>A	NM_020207.4	NP_064592.2:p.(Thr1410=)	NC_000009.11:g.98775029C>A	(Likely) benign	1 lab	c94d599b6b
2:238249552 COL6A3 G>A	2	238249552	238249552	G	A	COL6A3	c.8007C>T	NM_004369.3	NP_004360.2:p.(His2669=)	NC_000002.11:g.238249552G>A	(Likely) benign	1 lab	c94d9c0860
2:202580541 ALS2 T>C	2	202580541	202580541	T	C	ALS2	c.3858A>G	NM_020919.3	NP_065970.2:p.(Ala1286=)	NC_000002.11:g.202580541T>C	(Likely) benign	1 lab	c94df2f23e
22:29141951 HSCB G>C	22	29141951	29141951	G	C	HSCB	c.523G>C	NM_172002.5	NP_741999.3:p.(Ala175Pro)	NC_000022.10:g.29141951G>C	VUS	1 lab	c94edd9e4f
4:2824774 SH3BP2 C>T	4	2824774	2824774	C	T	SH3BP2	c.239+10C>T	NM_003023.4	NP_003014.3:p.?	NC_000004.11:g.2824774C>T	(Likely) benign	1 lab	c94fd756c2
16:50744752 NOD2 G>A	16	50744752	50744752	G	A	NOD2	c.930G>A	NM_022162.1	NP_071445.1:p.(Gln310=)	NC_000016.9:g.50744752G>A	(Likely) benign	1 lab	c9506a4149
2:210840880 UNC80 C>T	2	210840880	210840880	C	T	UNC80	c.8427C>T	NM_032504.1	NP_115893.1:p.(Leu2809=)	NC_000002.11:g.210840880C>T	(Likely) benign	1 lab	c951957363
10:55581951 PCDH15 A>G	10	55581951	55581951	A	G	PCDH15	c.5556T>C	NM_001142763.1	NP_001136235.1:p.(Gly1852=)	NC_000010.10:g.55581951A>G	(Likely) benign	1 lab	c95218662e
5:141046087 ARAP3 G>T	5	141046087	141046087	G	T	ARAP3	c.2476C>A	NM_022481.5	NP_071926.4:p.(Leu826Ile)	NC_000005.9:g.141046087G>T	(Likely) benign	1 lab	c953acf965
2:210690681 UNC80 C>T	2	210690681	210690681	C	T	UNC80	c.2382C>T	NM_032504.1	NP_115893.1:p.(Ile794=)	NC_000002.11:g.210690681C>T	(Likely) benign	1 lab	c953d60c60
5:176707797 NSD1 C>T	5	176707797	176707797	C	T	NSD1	c.5854C>T	NM_022455.4	NP_071900.2:p.(Arg1952Trp)	NC_000005.9:g.176707797C>T	(Likely) pathogenic	1 lab	c954023d6d
4:47746602 CORIN TAA>T	4	47746602	47746615	TAA	T	CORIN	c.618-4_618-3del	NM_006587.4	NP_006578.2:p.?	NC_000004.11:g.47746614_47746615del	(Likely) benign	1 lab	c956166686
17:1265285 YWHAE C>T	17	1265285	1265285	C	T	YWHAE	c.282G>A	NM_006761.4	NP_006752.1:p.(Lys94=)	NC_000017.10:g.1265285C>T	(Likely) benign	1 lab	c957131677
8:94792963 TMEM67 C>G	8	94792963	94792963	C	G	TMEM67	c.857C>G	NM_153704.5	NP_714915.3:p.(Ser286Cys)	NC_000008.10:g.94792963C>G	VUS	1 lab	c957ae4f26
1:22186400 HSPG2 G>A	1	22186400	22186400	G	A	HSPG2	c.5113C>T	NM_001291860.1	NP_001278789.1:p.(Pro1705Ser)	NC_000001.10:g.22186400G>A	VUS	1 lab	c95ac24599
17:29576097 NF1 TC>T	17	29576097	29576103	TC	T	NF1	c.4076del	NM_001042492.3	NP_001035957.1:p.(Pro1359LeufsTer19)	NC_000017.10:g.29576103del	(Likely) pathogenic	1 lab	c95b945357
5:150922987 FAT2 G>A	5	150922987	150922987	G	A	FAT2	c.7701C>T	NM_001447.2	NP_001438.1:p.(Ala2567=)	NC_000005.9:g.150922987G>A	(Likely) benign	1 lab	c95d2a15d1
10:99226340 MMS19 G>C	10	99226340	99226340	G	C	MMS19	c.1426C>G	NM_022362.5	NP_071757.4:p.(Leu476Val)	NC_000010.10:g.99226340G>C	(Likely) benign	1 lab	c95d8af667
11:78387406 TENM4 C>T	11	78387406	78387406	C	T	TENM4	c.5287G>A	NM_001098816.2	NP_001092286.2:p.(Gly1763Arg)	NC_000011.9:g.78387406C>T	VUS	1 lab	c95fa4f26f
15:28422170 HERC2 G>A	15	28422170	28422170	G	A	HERC2	c.9358C>T	NM_004667.5	NP_004658.3:p.(Leu3120=)	NC_000015.9:g.28422170G>A	(Likely) benign	1 lab	c9633f6616
2:179650719 TTN G>A	2	179650719	179650719	G	A	TTN	c.2226C>T	NM_001267550.1	NP_001254479.1:p.(Ser742=)	NC_000002.11:g.179650719G>A	(Likely) benign	1 lab	c9642eece7
10:73122074 SLC29A3 C>T	10	73122074	73122074	C	T	SLC29A3	c.1137C>T	NM_018344.6	NP_060814.4:p.(Leu379=)	NC_000010.10:g.73122074C>T	(Likely) benign	1 lab	c96649257a
14:23587998 CEBPE C>T	14	23587998	23587998	C	T	CEBPE				NC_000014.8:g.23587998C>T	(Likely) benign	1 lab	c96a1d3474
1:45799266 MUTYH C>T	1	45799266	45799266	C	T	MUTYH	c.167G>A	NM_001128425.1	NP_001121897.1:p.(Gly56Glu)	NC_000001.10:g.45799266C>T	VUS	1 lab	c96b76aeb0
12:48368508 COL2A1 T>C	12	48368508	48368508	T	C	COL2A1	c.4024A>G	NM_001844.4	NP_001835.3:p.(Lys1342Glu)	NC_000012.11:g.48368508T>C	VUS	1 lab	c96cce8e52
9:101907048 TGFBR1 A>C	9	101907048	101907048	A	C	TGFBR1	c.1008A>C	NM_004612.3	NP_004603.1:p.(Ser336=)	NC_000009.11:g.101907048A>C	(Likely) benign	1 lab	c96e1dbaed
X:130409067 IGSF1 A>C	X	130409067	130409067	A	C	IGSF1	c.3393T>G	NM_001170961.1	NP_001164432.1:p.(Gly1131=)	NC_000023.10:g.130409067A>C	(Likely) benign	1 lab	c97113e4a7
X:39932911 BCOR C>T	X	39932911	39932911	C	T	BCOR	c.1688G>A	NM_001123385.1	NP_001116857.1:p.(Ser563Asn)	NC_000023.10:g.39932911C>T	VUS	1 lab	c9720b22e8
4:187629212 FAT1 A>G	4	187629212	187629212	A	G	FAT1	c.1770T>C	NM_005245.3	NP_005236.2:p.(Thr590=)	NC_000004.11:g.187629212A>G	(Likely) benign	1 lab	c973d60ed8
X:48681339 HDAC6 G>A	X	48681339	48681339	G	A	HDAC6	c.2530G>A	NM_001321226.1	NP_001308155.1:p.(Gly844Arg)	NC_000023.10:g.48681339G>A	(Likely) benign	1 lab	c973f03208
19:50750356 MYH14 C>T	19	50750356	50750356	C	T	MYH14	c.1306C>T	NM_001145809.1	NP_001139281.1:p.(Gln436Ter)	NC_000019.9:g.50750356C>T	(Likely) pathogenic	1 lab	c9755570a3
X:32663137 DMD G>C	X	32663137	32663137	G	C	DMD	c.724C>G	NM_004010.3	NP_004001.1:p.(Gln242Glu)	NC_000023.10:g.32663137G>C	(Likely) benign	1 lab	c9767afba8
17:29486083 NF1 T>C	17	29486083	29486083	T	C	NF1	c.260T>C	NM_000267.3	NP_000258.1:p.(Leu87Ser)	NC_000017.10:g.29486083T>C	(Likely) benign	1 lab	c976ea57fb
12:124111006 EIF2B1 C>A	12	124111006	124111006	C	A	EIF2B1	c.517G>T	NM_001414.3	NP_001405.1:p.(Val173Phe)	NC_000012.11:g.124111006C>A	VUS	1 lab	c977877c1b
16:88807988 PIEZO1 C>G	16	88807988	88807988	C	G	PIEZO1	c.363G>C	NM_001142864.4	NP_001136336.2:p.(Leu121=)	NC_000016.9:g.88807988C>G	(Likely) benign	1 lab	c977b79d65
14:50100066 DNAAF2 G>C	14	50100066	50100066	G	C	DNAAF2	c.1802C>G	NM_018139.2	NP_060609.2:p.(Ser601Cys)	NC_000014.8:g.50100066G>C	VUS	1 lab	c9798aaacf
19:50813024 MYH14 T>A	19	50813024	50813024	T	A	MYH14	c.6088T>A	NM_001145809.1	NP_001139281.1:p.(Ser2030Thr)	NC_000019.9:g.50813024T>A	(Likely) benign	1 lab	c979e76bb2
2:136570332 LCT G>A	2	136570332	136570332	G	A	LCT	c.1902C>T	NM_002299.2	NP_002290.2:p.(Pro634=)	NC_000002.11:g.136570332G>A	(Likely) benign	1 lab	c97adb3100
10:87614376 GRID1 C>A	10	87614376	87614376	C	A	GRID1	c.1114-4G>T	NM_017551.2	NP_060021.1:p.?	NC_000010.10:g.87614376C>A	(Likely) benign	1 lab	c97b78a1a5
6:138196847 TNFAIP3 A>G	6	138196847	138196847	A	G	TNFAIP3	c.509A>G	NM_001270508.2	NP_001257437.1:p.(Asn170Ser)	NC_000006.11:g.138196847A>G	(Likely) benign	1 lab	c97be044fb
10:101577121 ABCC2 CA>C	10	101577121	101577123	CA	C	ABCC2	c.2153del	NM_000392.5	NP_000383.2:p.(Asn718ThrfsTer42)	NC_000010.10:g.101577123del	(Likely) pathogenic	1 lab	c97c3a5b60
15:43678117 TUBGCP4 G>A	15	43678117	43678117	G	A	TUBGCP4	c.852G>A	NM_001286414.2	NP_001273343.1:p.(Gln284=)	NC_000015.9:g.43678117G>A	(Likely) benign	1 lab	c97cd4128c
11:5799757 OR52N5 G>A	11	5799757	5799757	G	A	OR52N5	c.108C>T	NM_001001922.2	NP_001001922.2:p.(Ser36=)	NC_000011.9:g.5799757G>A	(Likely) benign	1 lab	c97cf8fe10
15:51285678 AP4E1 A>G	15	51285678	51285678	A	G	AP4E1	c.1977A>G	NM_001252127.1	NP_001239056.1:p.(Gln659=)	NC_000015.9:g.51285678A>G	VUS	1 lab	c97cffd4f5
13:41932993 NAA16 G>A	13	41932993	41932993	G	A	NAA16	c.1305G>A	NM_024561.5	NP_078837.3:p.(Gln435=)	NC_000013.10:g.41932993G>A	(Likely) benign	1 lab	c97ef0e20f
16:88908321 GALNS G>A	16	88908321	88908321	G	A	GALNS	c.321C>T	NM_001323544.1	NP_001310473.1:p.(Asn107=)	NC_000016.9:g.88908321G>A	(Likely) benign	1 lab	c97f8f60a8
3:121514299 IQCB1 T>G	3	121514299	121514299	T	G	IQCB1	c.986+5A>C	NM_001023570.3	NP_001018864.2:p.?	NC_000003.11:g.121514299T>G	(Likely) benign	1 lab	c981fccee1
20:10629253 JAG1 C>A	20	10629253	10629253	C	A	JAG1	c.1513G>T	NM_000214.3	NP_000205.1:p.(Glu505Ter)	NC_000020.10:g.10629253C>A	(Likely) pathogenic	1 lab	c984bebe31
20:61461143 COL9A3 G>C	20	61461143	61461143	G	C	COL9A3	c.1133G>C	NM_001853.4	NP_001844.3:p.(Arg378Pro)	NC_000020.10:g.61461143G>C	VUS	1 lab	c9857e918e
X:122778452 THOC2 T>C	X	122778452	122778452	T	C	THOC2	c.1635A>G	NM_001081550.1	NP_001075019.1:p.(Thr545=)	NC_000023.10:g.122778452T>C	(Likely) benign	1 lab	c986eb1e99
15:99251356 IGF1R C>T	15	99251356	99251356	C	T	IGF1R	c.640+20C>T	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99251356C>T	(Likely) benign	1 lab	c988a41457
17:48276657 COL1A1 A>T	17	48276657	48276657	A	T	COL1A1	c.401T>A	NM_000088.3	NP_000079.2:p.(Ile134Asn)	NC_000017.10:g.48276657A>T	VUS	1 lab	c98a733c52
2:179440628 TTN C>T	2	179440628	179440628	C	T	TTN	c.70231G>A	NM_001267550.1	NP_001254479.1:p.(Gly23411Ser)	NC_000002.11:g.179440628C>T	VUS	1 lab	c98a937b69
7:21745061 DNAH11 A>G	7	21745061	21745061	A	G	DNAH11				NC_000007.13:g.21745061A>G	(Likely) benign	1 lab	c98aecd08d
22:25599759 CRYBB3 G>T	22	25599759	25599759	G	T	CRYBB3	c.224G>T	NM_004076.4	NP_004067.1:p.(Arg75Leu)	NC_000022.10:g.25599759G>T	VUS	1 lab	c98b238ae7
12:48381477 COL2A1 T>C	12	48381477	48381477	T	C	COL2A1	c.1138A>G	NM_001844.4	NP_001835.3:p.(Thr380Ala)	NC_000012.11:g.48381477T>C	VUS	1 lab	c98c776453
10:28149735 ODAD2 G>T	10	28149735	28149735	G	T	ODAD2	c.2840C>A	NM_001290020.1	NP_001276949.1:p.(Ser947Ter)	NC_000010.10:g.28149735G>T	(Likely) pathogenic	1 lab	c98d918c46
2:179432181 TTN C>T	2	179432181	179432181	C	T	TTN	c.78678G>A	NM_001267550.1	NP_001254479.1:p.(Glu26226=)	NC_000002.11:g.179432181C>T	(Likely) benign	1 lab	c990c760df
17:7576712 TP53 C>T	17	7576712	7576712	C	T	TP53	c.993+141G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7576712C>T	(Likely) benign	1 lab	8770b3fcec
3:148741840 GYG1 G>A	3	148741840	148741840	G	A	GYG1	c.609G>A	NM_004130.3	NP_004121.2:p.(Val203=)	NC_000003.11:g.148741840G>A	(Likely) benign	1 lab	c9932b6bed
4:185599394 PRIMPOL A>G	4	185599394	185599394	A	G	PRIMPOL	c.853A>G	NM_001345891.1	NP_001332820.1:p.(Thr285Ala)	NC_000004.11:g.185599394A>G	VUS	1 lab	c993c69959
2:141291664 LRP1B C>T	2	141291664	141291664	C	T	LRP1B	c.7688G>A	NM_018557.2	NP_061027.2:p.(Arg2563His)	NC_000002.11:g.141291664C>T	VUS	1 lab	c993ceefc1
X:153690601 PLXNA3 G>A	X	153690601	153690601	G	A	PLXNA3	c.1268G>A	NM_017514.4	NP_059984.3:p.(Arg423His)	NC_000023.10:g.153690601G>A	(Likely) benign	1 lab	c993f03a3d
13:101710337 NALCN G>A	13	101710337	101710337	G	A	NALCN	c.5064C>T	NM_001350748.1	NP_001337677.1:p.(Asp1688=)	NC_000013.10:g.101710337G>A	(Likely) benign	1 lab	c996f71bdc
8:65509278 CYP7B1 C>A	8	65509278	65509278	C	A	CYP7B1	c.1442G>T	NM_004820.4	NP_004811.1:p.(Gly481Val)	NC_000008.10:g.65509278C>A	(Likely) benign	1 lab	c99782b731
15:34610784 SLC12A6 C>T	15	34610784	34610784	C	T	SLC12A6	c.96G>A	NM_005135.2	NP_005126.1:p.(Arg32=)	NC_000015.9:g.34610784C>T	(Likely) benign	1 lab	c997a07209
9:43626444 SPATA31A6 C>T	9	43626444	43626444	C	T	SPATA31A6	c.2243G>A	NM_001145196.1	NP_001138668.1:p.(Arg748Gln)	NC_000009.11:g.43626444C>T	(Likely) benign	1 lab	c999ad0ed3
3:132218164 DNAJC13 A>G	3	132218164	132218164	A	G	DNAJC13	c.4341+10A>G	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132218164A>G	(Likely) benign	1 lab	c99bc91f39
22:37964396 CDC42EP1 ACTGCAAACCCCCCAGCGCCTG>A	22	37964396	37964428	ACTGCAAACCCCCCAGCGCCTG	A	CDC42EP1	c.757_777del	NM_152243.3	NP_689449.1:p.(Pro253_Pro259del)	NC_000022.10:g.37964408_37964428del	(Likely) benign	1 lab	c99e14041f
X:52842224 XAGE5 C>G	X	52842224	52842224	C	G	XAGE5	c.133C>G	NM_130775.2	NP_570131.1:p.(Pro45Ala)	NC_000023.10:g.52842224C>G	(Likely) benign	1 lab	c99e8fbd0c
17:78086418 GAA C>T	17	78086418	78086418	C	T	GAA	c.1796C>T	NM_000152.3	NP_000143.2:p.(Ser599Phe)	NC_000017.10:g.78086418C>T	(Likely) pathogenic	1 lab	c99f5a5cb3
X:49108210 FOXP3 G>A	X	49108210	49108210	G	A	FOXP3	c.1061C>T	NM_014009.3	NP_054728.2:p.(Pro354Leu)	NC_000023.10:g.49108210G>A	VUS	1 lab	c99f63a7ef
12:49435240 KMT2D G>A	12	49435240	49435240	G	A	KMT2D	c.6313C>T	NM_003482.3	NP_003473.3:p.(Arg2105Cys)	NC_000012.11:g.49435240G>A	VUS	1 lab	c99fd315ee
21:46900749 COL18A1 C>T	21	46900749	46900749	C	T	COL18A1	c.2833C>T	NM_130444.3	NP_569711.2:p.(Pro945Ser)	NC_000021.8:g.46900749C>T	VUS	1 lab	c9a2041ef2
8:142229121 SLC45A4 G>A	8	142229121	142229121	G	A	SLC45A4	c.618C>T	NM_001286646.1	NP_001273575.1:p.(Gly206=)	NC_000008.10:g.142229121G>A	(Likely) benign	1 lab	c9a3b6a3d5
22:38379561 SOX10 G>A	22	38379561	38379561	G	A	SOX10	c.231C>T	NM_006941.3	NP_008872.1:p.(Ser77=)	NC_000022.10:g.38379561G>A	(Likely) benign	1 lab	c9a513b13a
16:84209558 DNAAF1 T>C	16	84209558	84209558	T	C	DNAAF1	c.1718T>C	NM_178452.5	NP_848547.4:p.(Ile573Thr)	NC_000016.9:g.84209558T>C	VUS	1 lab	c9a6760d29
19:10260600 DNMT1 C>T	19	10260600	10260600	C	T	DNMT1	c.2262G>A	NM_001379.3	NP_001370.1:p.(Ala754=)	NC_000019.9:g.10260600C>T	(Likely) benign	1 lab	c9a77fa44d
8:32614051 NRG1 C>T	8	32614051	32614051	C	T	NRG1	c.945+4C>T	NM_013956.4	NP_039250.2:p.?	NC_000008.10:g.32614051C>T	(Likely) benign	1 lab	c9a788bd5b
2:239169585 PER2 G>T	2	239169585	239169585	G	T	PER2	c.1426C>A	NM_022817.2	NP_073728.1:p.(His476Asn)	NC_000002.11:g.239169585G>T	VUS	1 lab	c9a83f7028
8:48875522 MCM4 G>A	8	48875522	48875522	G	A	MCM4	c.615G>A	NM_005914.4	NP_005905.2:p.(Glu205=)	NC_000008.10:g.48875522G>A	(Likely) benign	1 lab	c9aa61c954
17:530420 VPS53 A>G	17	530420	530420	A	G	VPS53	c.968T>C	NM_001128159.2	NP_001121631.1:p.(Val323Ala)	NC_000017.10:g.530420A>G	(Likely) benign	1 lab	c9aa835ffa
3:196230044 RNF168 T>C	3	196230044	196230044	T	C	RNF168	c.1A>G	NM_152617.3	NP_689830.2:p.(Met1?)	NC_000003.11:g.196230044T>C	VUS	1 lab	c9ab56c584
16:89348021 ANKRD11 C>G	16	89348021	89348021	C	G	ANKRD11	c.4929G>C	NM_001256182.1	NP_001243111.1:p.(Pro1643=)	NC_000016.9:g.89348021C>G	(Likely) benign	1 lab	c9abfb75a6
9:74340500 CEMIP2 A>C	9	74340500	74340500	A	C	CEMIP2	c.2175T>G	NM_013390.2	NP_037522.1:p.(Phe725Leu)	NC_000009.11:g.74340500A>C	VUS	1 lab	c9ac604042
8:10468541 RP1L1 C>G	8	10468541	10468541	C	G	RP1L1	c.3067G>C	NM_178857.5	NP_849188.4:p.(Glu1023Gln)	NC_000008.10:g.10468541C>G	(Likely) benign	1 lab	c9ae722637
8:33370005 TTI2 G>T	8	33370005	33370005	G	T	TTI2	c.127C>A	NM_025115.3	NP_079391.2:p.(Arg43=)	NC_000008.10:g.33370005G>T	VUS	1 lab	c9af2765a7
16:2135107 TSC2 G>A	16	2135107	2135107	G	A	TSC2	c.4569+80G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135107G>A	(Likely) benign	1 lab	c9b02d1f47
10:91404690 PANK1 G>A	10	91404690	91404690	G	A	PANK1	c.370C>T	NM_148977.2	NP_683878.1:p.(Arg124Cys)	NC_000010.10:g.91404690G>A	(Likely) benign	1 lab	c9b0a3d9c7
10:50736550 ERCC6 T>C	10	50736550	50736550	T	C	ERCC6	c.565A>G	NM_000124.2	NP_000115.1:p.(Thr189Ala)	NC_000010.10:g.50736550T>C	VUS	1 lab	c9b0eb041b
8:144940744 EPPK1 G>A	8	144940744	144940744	G	A	EPPK1				NC_000008.10:g.144940744G>A	(Likely) benign	1 lab	c9b24b73ba
16:2161553 PKD1 A>G	16	2161553	2161553	A	G	PKD1	c.3615T>C	NM_001009944.2	NP_001009944.2:p.(Asp1205=)	NC_000016.9:g.2161553A>G	(Likely) benign	1 lab	c9b256a9d6
17:59938736 BRIP1 A>C	17	59938736	59938736	A	C	BRIP1	c.93+72T>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59938736A>C	(Likely) benign	1 lab	91bfc26777
9:139400127 NOTCH1 G>A	9	139400127	139400127	G	A	NOTCH1	c.4221C>T	NM_017617.5	NP_060087.3:p.(Ser1407=)	NC_000009.11:g.139400127G>A	(Likely) benign	1 lab	c9b3402cdf
16:2547015 TBC1D24 C>T	16	2547015	2547015	C	T	TBC1D24	c.866C>T	NM_001199107.1	NP_001186036.1:p.(Ala289Val)	NC_000016.9:g.2547015C>T	VUS	1 lab	c9b4c2ce83
1:175375355 TNR T>C	1	175375355	175375355	T	C	TNR	c.496A>G	NM_003285.2	NP_003276.3:p.(Thr166Ala)	NC_000001.10:g.175375355T>C	(Likely) benign	1 lab	c9b5ea72bd
6:152639250 SYNE1 C>T	6	152639250	152639250	C	T	SYNE1	c.16538G>A	NM_182961.3	NP_892006.3:p.(Arg5513Lys)	NC_000006.11:g.152639250C>T	(Likely) benign	1 lab	c9b675df6f
X:23412238 PTCHD1 T>C	X	23412238	23412238	T	C	PTCHD1	c.2603T>C	NM_173495.2	NP_775766.2:p.(Ile868Thr)	NC_000023.10:g.23412238T>C	(Likely) benign	1 lab	c9b9b55cae
16:15809106 MYH11 G>A	16	15809106	15809106	G	A	MYH11	c.5549C>T	NM_001040113.1	NP_001035202.1:p.(Ser1850Leu)	NC_000016.9:g.15809106G>A	(Likely) benign	1 lab	c9ba7b935b
1:63788826 FOXD3 G>C	1	63788826	63788826	G	C	FOXD3	c.97G>C	NM_012183.2	NP_036315.1:p.(Asp33His)	NC_000001.10:g.63788826G>C	VUS	1 lab	c9bb997a7d
16:31498899 SLC5A2 G>A	16	31498899	31498899	G	A	SLC5A2	c.704G>A	NM_003041.3	NP_003032.1:p.(Gly235Glu)	NC_000016.9:g.31498899G>A	(Likely) benign	1 lab	c9bbec959e
2:29295192 PCARE C>T	2	29295192	29295192	C	T	PCARE	c.1936G>A	NM_001029883.2	NP_001025054.1:p.(Ala646Thr)	NC_000002.11:g.29295192C>T	VUS	1 lab	c9bd35cfb5
21:47845847 PCNT G>A	21	47845847	47845847	G	A	PCNT	c.7282G>A	NM_006031.5	NP_006022.3:p.(Glu2428Lys)	NC_000021.8:g.47845847G>A	(Likely) benign	1 lab	c9be12c189
4:123145775 BLTP1 C>T	4	123145775	123145775	C	T	BLTP1	c.2736C>T	NM_015312.3	NP_056127.2:p.(Tyr912=)	NC_000004.11:g.123145775C>T	(Likely) benign	1 lab	c9be5b40cc
12:109999294 MMAB G>C	12	109999294	109999294	G	C	MMAB	c.450C>G	NM_052845.3	NP_443077.1:p.(Ile150Met)	NC_000012.11:g.109999294G>C	VUS	1 lab	c9bef05082
16:24886955 SLC5A11 C>T	16	24886955	24886955	C	T	SLC5A11	c.188C>T	NM_001352249.1	NP_001339178.1:p.(Thr63Met)	NC_000016.9:g.24886955C>T	VUS	1 lab	c9bfc57d92
3:100962537 IMPG2 C>T	3	100962537	100962537	C	T	IMPG2	c.2638G>A	NM_016247.3	NP_057331.2:p.(Val880Met)	NC_000003.11:g.100962537C>T	VUS	1 lab	c9c354fb20
4:39462424 LIAS T>C	4	39462424	39462424	T	C	LIAS	c.60T>C	NM_006859.3	NP_006850.2:p.(Tyr20=)	NC_000004.11:g.39462424T>C	(Likely) benign	1 lab	c9c433ebc5
16:16248782 ABCC6 A>G	16	16248782	16248782	A	G	ABCC6	c.3989T>C	NM_001171.5	NP_001162.4:p.(Ile1330Thr)	NC_000016.9:g.16248782A>G	VUS	1 lab	c9c4e8928b
1:162746088 DDR2 T>A	1	162746088	162746088	T	A	DDR2	c.2211T>A	NM_006182.4	NP_006173.2:p.(Ser737Arg)	NC_000001.10:g.162746088T>A	VUS	1 lab	c9c5b4bff3
12:109217104 SSH1 TG>T	12	109217104	109217105	TG	T	SSH1	c.143del	NM_018984.4	NP_061857.3:p.(Ala48GlufsTer33)	NC_000012.11:g.109217105del	VUS	1 lab	c9c5f5b588
X:47433622 SYN1 G>A	X	47433622	47433622	G	A	SYN1	c.1761C>T	NM_006950.3	NP_008881.2:p.(Arg587=)	NC_000023.10:g.47433622G>A	(Likely) benign	1 lab	c9c7302f01
21:47831877 PCNT G>A	21	47831877	47831877	G	A	PCNT	c.5890G>A	NM_006031.5	NP_006022.3:p.(Ala1964Thr)	NC_000021.8:g.47831877G>A	(Likely) benign	1 lab	c9c8276f37
11:13716497 FAR1 G>T	11	13716497	13716497	G	T	FAR1	c.185G>T	NM_032228.5	NP_115604.1:p.(Gly62Val)	NC_000011.9:g.13716497G>T	(Likely) benign	1 lab	c9caa956ac
X:37553726 XK T>G	X	37553726	37553726	T	G	XK	c.433T>G	NM_021083.4	NP_066569.1:p.(Phe145Val)	NC_000023.10:g.37553726T>G	VUS	1 lab	c9cb13a2d8
12:105501627 WASHC4 G>A	12	105501627	105501627	G	A	WASHC4	c.49G>A	NM_001293640.1	NP_001280569.1:p.(Asp17Asn)	NC_000012.11:g.105501627G>A	VUS	1 lab	c9cbaabf0a
X:54473819 FGD1 G>A	X	54473819	54473819	G	A	FGD1	c.2505C>T	NM_004463.2	NP_004454.2:p.(Gly835=)	NC_000023.10:g.54473819G>A	VUS	1 lab	c9ccfe3d61
11:1264453 MUC5B G>A	11	1264453	1264453	G	A	MUC5B	c.6343G>A	NM_002458.2	NP_002449.2:p.(Gly2115Ser)	NC_000011.9:g.1264453G>A	(Likely) benign	1 lab	c9d0e37342
10:135371357 SYCE1 GA>G	10	135371357	135371359	GA	G	SYCE1	c.374+10del	NM_001143764.3	NP_001137236.1:p.?	NC_000010.10:g.135371359del	(Likely) benign	1 lab	c9d118d824
2:166859267 SCN1A A>G	2	166859267	166859267	A	G	SCN1A	c.4003-4T>C	NM_001165963.2	NP_001159435.1:p.?	NC_000002.11:g.166859267A>G	(Likely) benign	1 lab	c9d11bd965
21:38865349 DYRK1A C>A	21	38865349	38865349	C	A	DYRK1A	c.955C>A	NM_001347721.2	NP_001334650.1:p.(Arg319=)	NC_000021.8:g.38865349C>A	(Likely) benign	1 lab	c9d4844156
X:119509272 ATP1B4 C>T	X	119509272	119509272	C	T	ATP1B4	c.608C>T	NM_001142447.3	NP_001135919.1:p.(Pro203Leu)	NC_000023.10:g.119509272C>T	(Likely) benign	1 lab	c9d5522124
15:82574966 SAXO2 G>C	15	82574966	82574966	G	C	SAXO2	c.760G>C	NM_001008226.1	NP_001008227.1:p.(Asp254His)	NC_000015.9:g.82574966G>C	VUS	1 lab	c9d66ce90d
16:87969992 CA5A G>A	16	87969992	87969992	G	A	CA5A	c.65C>T	NM_001367225.1	NP_001354154.1:p.(Pro22Leu)	NC_000016.9:g.87969992G>A	(Likely) benign	1 lab	c9d7809730
6:3225759 TUBB2B C>A	6	3225759	3225759	C	A	TUBB2B	c.564G>T	NM_178012.4	NP_821080.1:p.(Ser188=)	NC_000006.11:g.3225759C>A	(Likely) benign	1 lab	c9d861ba2e
7:99701263 AP4M1 T>C	7	99701263	99701263	T	C	AP4M1	c.491T>C	NM_004722.3	NP_004713.2:p.(Val164Ala)	NC_000007.13:g.99701263T>C	VUS	1 lab	c9d924412c
18:3456458 TGIF1 C>T	18	3456458	3456458	C	T	TGIF1	c.510C>T	NM_170695.3	NP_733796.2:p.(Asn170=)	NC_000018.9:g.3456458C>T	(Likely) benign	1 lab	c9d942ae5a
1:234744629 IRF2BP2 G>A	1	234744629	234744629	G	A	IRF2BP2	c.612C>T	NM_182972.2	NP_892017.2:p.(Gly204=)	NC_000001.10:g.234744629G>A	(Likely) benign	1 lab	c9db628111
3:52485428 TNNC1 C>T	3	52485428	52485428	C	T	TNNC1	c.433G>A	NM_003280.2	NP_003271.1:p.(Asp145Asn)	NC_000003.11:g.52485428C>T	VUS	1 lab	c9dc516edd
21:46900608 COL18A1 G>A	21	46900608	46900608	G	A	COL18A1	c.1453-6G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46900608G>A	(Likely) benign	1 lab	c9de1e0fdb
X:153052343 IDH3G G>A	X	153052343	153052343	G	A	IDH3G	c.837C>T	NM_174869.2	NP_777358.1:p.(Ile279=)	NC_000023.10:g.153052343G>A	(Likely) benign	1 lab	c9de6023fc
X:153171700 AVPR2 G>A	X	153171700	153171700	G	A	AVPR2	c.740G>A	NM_001146151.2	NP_001139623.1:p.(Arg247His)	NC_000023.10:g.153171700G>A	(Likely) benign	1 lab	c9df033a71
1:151015520 BNIPL T>C	1	151015520	151015520	T	C	BNIPL	c.276T>C	NM_001159642.1	NP_001153114.1:p.(Asp92=)	NC_000001.10:g.151015520T>C	(Likely) benign	1 lab	c9df37bde0
4:16035006 PROM1 G>A	4	16035006	16035006	G	A	PROM1	c.403C>T	NM_001145847.1	NP_001139319.1:p.(His135Tyr)	NC_000004.11:g.16035006G>A	VUS	1 lab	c9dfa56e2c
15:73660031 HCN4 G>C	15	73660031	73660031	G	C	HCN4	c.581C>G	NM_005477.2	NP_005468.1:p.(Ala194Gly)	NC_000015.9:g.73660031G>C	VUS	1 lab	c9dfaaab0b
X:36403048 CFAP47 G>A	X	36403048	36403048	G	A	CFAP47	c.9491G>A	NM_001304548.1	NP_001291477.1:p.(Arg3164His)	NC_000023.10:g.36403048G>A	VUS	1 lab	c9dfae9eaa
19:35622414 LGI4 C>G	19	35622414	35622414	C	G	LGI4	c.504G>C	NM_139284.3	NP_644813.1:p.(Trp168Cys)	NC_000019.9:g.35622414C>G	VUS	1 lab	c9e0918e8d
X:109696895 RTL9 C>T	X	109696895	109696895	C	T	RTL9	c.3050C>T	NM_020769.2	NP_065820.1:p.(Ala1017Val)	NC_000023.10:g.109696895C>T	VUS	1 lab	c9e45e198e
17:29684060 NF1 A>AG	17	29684060	29684061	A	AG	NF1	c.7759dup	NM_000267.3	NP_000258.1:p.(Glu2587GlyfsTer5)	NC_000017.10:g.29684061dup	(Likely) pathogenic	1 lab	c9e46f292e
9:79836205 VPS13A A>G	9	79836205	79836205	A	G	VPS13A	c.1094A>G	NM_033305.2	NP_150648.2:p.(Tyr365Cys)	NC_000009.11:g.79836205A>G	VUS	1 lab	c9e71fa21d
8:145584594 SLC52A2 C>T	8	145584594	145584594	C	T	SLC52A2	c.1257C>T	NM_024531.4	NP_078807.1:p.(Gly419=)	NC_000008.10:g.145584594C>T	(Likely) benign	1 lab	c9e754d923
3:36899085 TRANK1 G>C	3	36899085	36899085	G	C	TRANK1	c.2128C>G	NM_001329998.1	NP_001316927.1:p.(Leu710Val)	NC_000003.11:g.36899085G>C	(Likely) benign	1 lab	c9e9507fe5
8:113562969 CSMD3 T>C	8	113562969	113562969	T	C	CSMD3	c.4495A>G	NM_198123.2	NP_937756.1:p.(Asn1499Asp)	NC_000008.10:g.113562969T>C	VUS	1 lab	c9ef2ad400
19:50728955 MYH14 G>A	19	50728955	50728955	G	A	MYH14	c.810+21G>A	NM_001145809.1	NP_001139281.1:p.?	NC_000019.9:g.50728955G>A	(Likely) benign	1 lab	c9f9b96453
11:102195523 BIRC3 T>C	11	102195523	102195523	T	C	BIRC3	c.283T>C	NM_001165.4	NP_001156.1:p.(Phe95Leu)	NC_000011.9:g.102195523T>C	VUS	1 lab	c9f1b60d8d
1:248366777 OR2M3 G>A	1	248366777	248366777	G	A	OR2M3	c.408G>A	NM_001004689.1	NP_001004689.1:p.(Met136Ile)	NC_000001.10:g.248366777G>A	(Likely) benign	1 lab	c9f3ea7ebe
10:69881398 MYPN G>C	10	69881398	69881398	G	C	MYPN	c.203G>C	NM_032578.3	NP_115967.2:p.(Ser68Thr)	NC_000010.10:g.69881398G>C	VUS	1 lab	c9f46f5fd6
X:10417645 MID1 A>G	X	10417645	10417645	A	G	MID1	c.1767T>C	NM_001347733.1	NP_001334662.1:p.(Asn589=)	NC_000023.10:g.10417645A>G	(Likely) benign	1 lab	c9f4c4bb84
17:15142879 PMP22 G>T	17	15142879	15142879	G	T	PMP22	c.228C>A	NM_001281456.1	NP_001268385.1:p.(Ser76Arg)	NC_000017.10:g.15142879G>T	(Likely) pathogenic	1 lab	c9f4eb4a74
1:22157768 HSPG2 G>A	1	22157768	22157768	G	A	HSPG2	c.11505C>T	NM_001291860.1	NP_001278789.1:p.(Asp3835=)	NC_000001.10:g.22157768G>A	(Likely) benign	1 lab	c9f5fd460d
14:76437596 TGFB3 G>A	14	76437596	76437596	G	A	TGFB3	c.519C>T	NM_003239.2	NP_003230.1:p.(Ile173=)	NC_000014.8:g.76437596G>A	(Likely) benign	1 lab	c9f60d42c8
3:119134220 ARHGAP31 T>A	3	119134220	119134220	T	A	ARHGAP31	c.3444T>A	NM_020754.3	NP_065805.2:p.(Ser1148=)	NC_000003.11:g.119134220T>A	(Likely) benign	1 lab	c9f75006d8
16:24582703 RBBP6 A>G	16	24582703	24582703	A	G	RBBP6	c.4316A>G	NM_006910.5	NP_008841.2:p.(Asn1439Ser)	NC_000016.9:g.24582703A>G	(Likely) benign	1 lab	c9f78bee3a
16:89349862 ANKRD11 C>A	16	89349862	89349862	C	A	ANKRD11	c.3088G>T	NM_001256182.1	NP_001243111.1:p.(Glu1030Ter)	NC_000016.9:g.89349862C>A	(Likely) pathogenic	1 lab	c9f84fdb21
3:155551822 SLC33A1 A>G	3	155551822	155551822	A	G	SLC33A1	c.972T>C	NM_004733.3	NP_004724.1:p.(Phe324=)	NC_000003.11:g.155551822A>G	(Likely) benign	1 lab	c9f9f024de
18:59757755 PIGN A>C	18	59757755	59757755	A	C	PIGN	c.2237T>G	NM_176787.4	NP_789744.1:p.(Ile746Arg)	NC_000018.9:g.59757755A>C	VUS	1 lab	c9fa744f4f
7:113519773 PPP1R3A TGAAGAGGG>T	7	113519773	113519782	TGAAGAGGG	T	PPP1R3A	c.1366_1373del	NM_002711.4	NP_002702.2:p.(Pro456ArgfsTer9)	NC_000007.13:g.113519775_113519782del	VUS	1 lab	c9fcc3d6cf
21:45750513 CFAP410 G>A	21	45750513	45750513	G	A	CFAP410	c.832C>T	NM_001271441.1	NP_001258370.1:p.(Arg278Cys)	NC_000021.8:g.45750513G>A	VUS	1 lab	c9fd6c0192
5:150946590 FAT2 T>G	5	150946590	150946590	T	G	FAT2	c.1903A>C	NM_001447.2	NP_001438.1:p.(Ser635Arg)	NC_000005.9:g.150946590T>G	(Likely) benign	1 lab	c9ff613882
1:1647893 CDK11A C>CTTTCTT	1	1647893	1647900	C	CTTTCTT	CDK11A	c.374_379dup	NM_024011.3	NP_076916.2:p.(Lys125_Glu126dup)	NC_000001.10:g.1647895_1647900dup	(Likely) benign	1 lab	c9ff792a1b
1:65852599 DNAJC6 G>T	1	65852599	65852599	G	T	DNAJC6	c.1100G>T	NM_001256864.2	NP_001243793.1:p.(Arg367Leu)	NC_000001.10:g.65852599G>T	VUS	1 lab	ca0019b7a0
16:4385127 GLIS2 G>A	16	4385127	4385127	G	A	GLIS2	c.589G>A	NM_001318918.1	NP_001305847.1:p.(Glu197Lys)	NC_000016.9:g.4385127G>A	VUS	1 lab	ca06f6b30c
12:113537812 RASAL1 G>A	12	113537812	113537812	G	A	RASAL1	c.2337C>T	NM_004658.2	NP_004649.2:p.(Leu779=)	NC_000012.11:g.113537812G>A	(Likely) benign	1 lab	ca15e45e0f
8:126067830 WASHC5 T>C	8	126067830	126067830	T	C	WASHC5	c.2097+3A>G	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126067830T>C	VUS	1 lab	ca0b20dc0d
16:1270328 CACNA1H G>A	16	1270328	1270328	G	A	CACNA1H	c.6396G>A	NM_021098.2	NP_066921.2:p.(Leu2132=)	NC_000016.9:g.1270328G>A	(Likely) benign	1 lab	ca0c144674
6:152652500 SYNE1 T>C	6	152652500	152652500	T	C	SYNE1	c.13320A>G	NM_182961.3	NP_892006.3:p.(Leu4440=)	NC_000006.11:g.152652500T>C	(Likely) benign	1 lab	ca0daf6bdd
14:105418190 AHNAK2 G>A	14	105418190	105418190	G	A	AHNAK2	c.3598C>T	NM_138420.3	NP_612429.2:p.(Pro1200Ser)	NC_000014.8:g.105418190G>A	(Likely) benign	1 lab	ca0e5f935a
19:9088453 MUC16 G>A	19	9088453	9088453	G	A	MUC16	c.3362C>T	NM_024690.2	NP_078966.2:p.(Pro1121Leu)	NC_000019.9:g.9088453G>A	VUS	1 lab	ca0fa3e164
1:85035615 CTBS T>C	1	85035615	85035615	T	C	CTBS	c.524A>G	NM_004388.3	NP_004379.1:p.(Gln175Arg)	NC_000001.10:g.85035615T>C	VUS	1 lab	ca10ceeeb8
15:28525430 HERC2 A>G	15	28525430	28525430	A	G	HERC2	c.326T>C	NM_004667.5	NP_004658.3:p.(Val109Ala)	NC_000015.9:g.28525430A>G	(Likely) benign	1 lab	ca117c50e6
8:42294653 SLC20A2 C>A	8	42294653	42294653	C	A	SLC20A2	c.1377G>T	NM_001257180.2	NP_001244109.1:p.(Glu459Asp)	NC_000008.10:g.42294653C>A	(Likely) benign	1 lab	ca15695b96
15:31197953 FAN1 T>C	15	31197953	31197953	T	C	FAN1	c.1087T>C	NM_014967.4	NP_055782.3:p.(Cys363Arg)	NC_000015.9:g.31197953T>C	(Likely) benign	1 lab	ca156a3f86
5:90055247 ADGRV1 A>G	5	90055247	90055247	A	G	ADGRV1	c.11962A>G	NM_032119.4	NP_115495.3:p.(Thr3988Ala)	NC_000005.9:g.90055247A>G	VUS	1 lab	ca1594fff3
17:29559809 NF1 CG>C	17	29559809	29559811	CG	C	NF1	c.3408del	NM_001042492.3	NP_001035957.1:p.(Arg1137GlyfsTer5)	NC_000017.10:g.29559811del	(Likely) pathogenic	1 lab	ca1613f87a
11:64504344 RASGRP2 G>C	11	64504344	64504344	G	C	RASGRP2	c.976C>G	NM_153819.1	NP_722541.1:p.(Arg326Gly)	NC_000011.9:g.64504344G>C	VUS	1 lab	ca1883c8ae
7:87046732 ABCB4 G>A	7	87046732	87046732	G	A	ABCB4	c.2578C>T	NM_018849.2	NP_061337.1:p.(Leu860=)	NC_000007.13:g.87046732G>A	(Likely) benign	1 lab	ca18f5b206
7:4823883 AP5Z1 C>T	7	4823883	4823883	C	T	AP5Z1	c.671C>T	NM_014855.3	NP_055670.1:p.(Thr224Met)	NC_000007.13:g.4823883C>T	VUS	1 lab	ca1a29f094
8:61768705 CHD7 G>C	8	61768705	61768705	G	C	CHD7				NC_000008.10:g.61768705G>C	VUS	1 lab	ca1ad9bba4
16:81391508 GAN G>A	16	81391508	81391508	G	A	GAN	c.945G>A	NM_022041.3	NP_071324.1:p.(Pro315=)	NC_000016.9:g.81391508G>A	(Likely) benign	1 lab	ca1bb92ac9
16:3142714 ZSCAN10 C>T	16	3142714	3142714	C	T	ZSCAN10	c.82G>A	NM_001282416.1	NP_001269345.1:p.(Gly28Ser)	NC_000016.9:g.3142714C>T	(Likely) benign	1 lab	ca1dde448e
3:52486140 TNNC1 C>T	3	52486140	52486140	C	T	TNNC1	c.184G>A	NM_003280.2	NP_003271.1:p.(Asp62Asn)	NC_000003.11:g.52486140C>T	VUS	1 lab	ca1e3e0224
5:112177299 APC A>C	5	112177299	112177299	A	C	APC				NC_000005.9:g.112177299A>C	VUS	1 lab	ca2f29aee1
16:2120572 TSC2 G>A	16	2120572	2120572	G	A	TSC2	c.1832G>A	NM_000548.3	NP_000539.2:p.(Arg611Gln)	NC_000016.9:g.2120572G>A	(Likely) pathogenic	1 lab	ca1f451cec
2:171573622 SP5 G>C	2	171573622	171573622	G	C	SP5	c.905G>C	NM_001003845.2	NP_001003845.1:p.(Gly302Ala)	NC_000002.11:g.171573622G>C	VUS	1 lab	ca1f56debd
11:108139135 ATM A>G	11	108139135	108139135	A	G	ATM	c.2639-2A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108139135A>G	(Likely) pathogenic	1 lab	ca1fa4fe63
1:161487823 FCGR2A A>C	1	161487823	161487823	A	C	FCGR2A	c.839A>C	NM_001136219.1	NP_001129691.1:p.(Asp280Ala)	NC_000001.10:g.161487823A>C	(Likely) benign	1 lab	ca214724f3
1:6209018 CHD5 C>T	1	6209018	6209018	C	T	CHD5	c.1279G>A	NM_015557.3	NP_056372.1:p.(Glu427Lys)	NC_000001.10:g.6209018C>T	VUS	1 lab	ca24d6d33b
15:40944302 KNL1 T>C	15	40944302	40944302	T	C	KNL1	c.6492T>C	NM_170589.4	NP_733468.3:p.(Val2164=)	NC_000015.9:g.40944302T>C	(Likely) benign	1 lab	ca27317637
17:8141528 CTC1 A>T	17	8141528	8141528	A	T	CTC1	c.468T>A	NM_025099.6	NP_079375.3:p.(His156Gln)	NC_000017.10:g.8141528A>T	VUS	1 lab	ca273bc0b1
2:234675738 UGT1A1 G>A	2	234675738	234675738	G	A	UGT1A1	c.923G>A	NM_000463.2	NP_000454.1:p.(Gly308Glu)	NC_000002.11:g.234675738G>A	(Likely) pathogenic	1 lab	ca27852eae
3:48506307 ATRIP C>G	3	48506307	48506307	C	G	ATRIP	c.2133C>G	NM_130384.3	NP_569055.1:p.(Asp711Glu)	NC_000003.11:g.48506307C>G	(Likely) benign	1 lab	ca2792880f
1:229568518 ACTA1 T>G	1	229568518	229568518	T	G	ACTA1	c.239A>C	NM_001100.3	NP_001091.1:p.(Asn80Thr)	NC_000001.10:g.229568518T>G	(Likely) pathogenic	1 lab	ca279cc517
6:7576692 DSP A>G	6	7576692	7576692	A	G	DSP	c.2793+3A>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7576692A>G	VUS	1 lab	ca27d04c31
2:29294070 PCARE G>T	2	29294070	29294070	G	T	PCARE	c.3058C>A	NM_001029883.2	NP_001025054.1:p.(Gln1020Lys)	NC_000002.11:g.29294070G>T	VUS	1 lab	ca28860e74
X:91132874 PCDH11X C>T	X	91132874	91132874	C	T	PCDH11X	c.1635C>T	NM_032968.4	NP_116750.1:p.(Asn545=)	NC_000023.10:g.91132874C>T	(Likely) benign	1 lab	ca2ab547ae
19:50792861 MYH14 C>T	19	50792861	50792861	C	T	MYH14	c.4921C>T	NM_001145809.1	NP_001139281.1:p.(Arg1641Cys)	NC_000019.9:g.50792861C>T	VUS	1 lab	ca2b9fc8ce
13:32912345 BRCA2 GA>G	13	32912345	32912352	GA	G	BRCA2	c.3860del	NM_000059.4	NP_000050.3:p.(Asn1287IlefsTer6)	NC_000013.10:g.32912352del	(Likely) pathogenic	1 lab	ca2c1e4777
13:23912738 SACS A>G	13	23912738	23912738	A	G	SACS	c.5277T>C	NM_014363.5	NP_055178.3:p.(Ile1759=)	NC_000013.10:g.23912738A>G	(Likely) benign	1 lab	ca2d27cae2
X:49048017 SYP G>A	X	49048017	49048017	G	A	SYP	c.819C>T	NM_003179.2	NP_003170.1:p.(Gly273=)	NC_000023.10:g.49048017G>A	(Likely) benign	1 lab	ca2dc75b8a
19:44681717 ZNF226 T>G	19	44681717	44681717	T	G	ZNF226	c.2302T>G	NM_016444.2	NP_057528.2:p.(Ser768Ala)	NC_000019.9:g.44681717T>G	(Likely) benign	1 lab	ca30f8b6d0
16:57951185 CNGB1 C>G	16	57951185	57951185	C	G	CNGB1	c.2153G>C	NM_001297.4	NP_001288.3:p.(Gly718Ala)	NC_000016.9:g.57951185C>G	VUS	1 lab	ca31411739
19:1484118 PCSK4 C>A	19	1484118	1484118	C	A	PCSK4	c.1077G>T	NM_017573.4	NP_060043.2:p.(Thr359=)	NC_000019.9:g.1484118C>A	(Likely) benign	1 lab	ca33de3ce2
5:13829611 DNAH5 T>C	5	13829611	13829611	T	C	DNAH5	c.6444+8A>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13829611T>C	(Likely) benign	1 lab	ca387aaa9e
22:21348498 LZTR1 C>T	22	21348498	21348498	C	T	LZTR1	c.1555C>T	NM_006767.3	NP_006758.2:p.(Arg519Trp)	NC_000022.10:g.21348498C>T	VUS	1 lab	ca39b3ebfb
7:17379181 AHR A>G	7	17379181	17379181	A	G	AHR	c.1732A>G	NM_001621.5	NP_001612.1:p.(Thr578Ala)	NC_000007.13:g.17379181A>G	VUS	1 lab	ca3a3f6a50
17:39925426 JUP G>C	17	39925426	39925426	G	C	JUP	c.502C>G	NM_021991.2	NP_068831.1:p.(Gln168Glu)	NC_000017.10:g.39925426G>C	VUS	1 lab	ca3c4847e1
3:25661515 TOP2B T>A	3	25661515	25661515	T	A	TOP2B	c.2901A>T	NM_001330700.1	NP_001317629.1:p.(Gly967=)	NC_000003.11:g.25661515T>A	(Likely) benign	1 lab	ca3cc019b9
16:21721353 OTOA C>T	16	21721353	21721353	C	T	OTOA	c.1249C>T	NM_144672.4	NP_653273.3:p.(Leu417Phe)	NC_000016.9:g.21721353C>T	VUS	1 lab	ca3cca90fb
17:61560890 ACE T>C	17	61560890	61560890	T	C	ACE	c.1557T>C	NM_000789.3	NP_000780.1:p.(Phe519=)	NC_000017.10:g.61560890T>C	(Likely) benign	1 lab	ca3e24452e
8:100847440 VPS13B A>G	8	100847440	100847440	A	G	VPS13B	c.9705A>G	NM_017890.4	NP_060360.3:p.(Thr3235=)	NC_000008.10:g.100847440A>G	(Likely) benign	1 lab	ca3ee661ec
14:31535485 AP4S1 G>A	14	31535485	31535485	G	A	AP4S1	c.83G>A	NM_001254728.1	NP_001241657.1:p.(Arg28His)	NC_000014.8:g.31535485G>A	VUS	1 lab	ca3eef0b1f
11:108155105 ATM T>A	11	108155105	108155105	T	A	ATM	c.3898T>A	NM_001351834.1	NP_001338763.1:p.(Tyr1300Asn)	NC_000011.9:g.108155105T>A	(Likely) benign	1 lab	ca3f0292c6
5:122425971 PRDM6 A>ACCTCCGCCTCCTCCGCCT	5	122425971	122425994	A	ACCTCCGCCTCCTCCGCCT	PRDM6	c.268_285dup	NM_001136239.3	NP_001129711.1:p.(Ala90_Ser95dup)	NC_000005.9:g.122425977_122425994dup	(Likely) benign	1 lab	ca3f6e4c33
9:35062099 VCP A>G	9	35062099	35062099	A	G	VCP	c.982T>C	NM_007126.3	NP_009057.1:p.(Leu328=)	NC_000009.11:g.35062099A>G	(Likely) benign	1 lab	ca3f757e59
1:152086555 TCHH A>AT	1	152086555	152086564	A	AT	TCHH	c.1dup	NM_007113.3	NP_009044.2:p.(Met1?)	NC_000001.10:g.152086564dup	(Likely) benign	1 lab	ca3f925dfc
9:35095102 PIGO G>T	9	35095102	35095102	G	T	PIGO	c.461C>A	NM_032634.3	NP_116023.2:p.(Ala154Asp)	NC_000009.11:g.35095102G>T	(Likely) benign	1 lab	ca40dc923e
14:68229100 ZFYVE26 G>A	14	68229100	68229100	G	A	ZFYVE26	c.6189C>T	NM_015346.3	NP_056161.2:p.(Thr2063=)	NC_000014.8:g.68229100G>A	(Likely) benign	1 lab	ca4135189c
11:400556 PKP3 G>C	11	400556	400556	G	C	PKP3	c.1588G>C	NM_007183.4	NP_009114.1:p.(Val530Leu)	NC_000011.9:g.400556G>C	VUS	1 lab	ca427c0c2d
22:30069328 NF2 TGGCCCAGAAG>T	22	30069328	30069339	TGGCCCAGAAG	T	NF2	c.1195_1204del	NM_000268.4	NP_000259.1:p.(Ala399ProfsTer24)	NC_000022.10:g.30069330_30069339del	(Likely) pathogenic	1 lab	ca431a172f
22:51158739 MISSING G>A	22	51158739	51158739	G	A	MISSING				NC_000022.10:g.51158739G>A	(Likely) benign	1 lab	caadd52daf
1:114357580 PTPN22 G>A	1	114357580	114357580	G	A	PTPN22	c.2371C>T	NM_015967.6	NP_057051.3:p.(Arg791Cys)	NC_000001.10:g.114357580G>A	VUS	1 lab	ca435f4122
4:72222752 SLC4A4 C>T	4	72222752	72222752	C	T	SLC4A4	c.578C>T	NM_001098484.2	NP_001091954.1:p.(Thr193Ile)	NC_000004.11:g.72222752C>T	(Likely) benign	1 lab	ca436fc02b
X:67941493 STARD8 C>T	X	67941493	67941493	C	T	STARD8	c.2364C>T	NM_001142503.2	NP_001135975.1:p.(Ala788=)	NC_000023.10:g.67941493C>T	(Likely) benign	1 lab	ca44155098
5:89933570 ADGRV1 C>G	5	89933570	89933570	C	G	ADGRV1	c.2045C>G	NM_032119.4	NP_115495.3:p.(Thr682Ser)	NC_000005.9:g.89933570C>G	VUS	1 lab	ca449f1ad0
22:38153854 TRIOBP G>T	22	38153854	38153854	G	T	TRIOBP	c.5922G>T	NM_001039141.2	NP_001034230.1:p.(Glu1974Asp)	NC_000022.10:g.38153854G>T	(Likely) benign	1 lab	ca45ba3db3
X:132826441 GPC3 C>T	X	132826441	132826441	C	T	GPC3	c.1317G>A	NM_001164617.1	NP_001158089.1:p.(Ala439=)	NC_000023.10:g.132826441C>T	(Likely) benign	1 lab	ca468e6a92
X:53611166 HUWE1 C>A	X	53611166	53611166	C	A	HUWE1	c.5141G>T	NM_031407.6	NP_113584.3:p.(Arg1714Leu)	NC_000023.10:g.53611166C>A	(Likely) benign	1 lab	ca4754d99b
1:57406516 C8B G>A	1	57406516	57406516	G	A	C8B	c.1242+6C>T	NM_001278543.1	NP_001265472.1:p.?	NC_000001.10:g.57406516G>A	(Likely) benign	1 lab	ca47aaa83c
X:152835085 ATP2B3 A>C	X	152835085	152835085	A	C	ATP2B3	c.3367A>C	NM_021949.3	NP_068768.2:p.(Arg1123=)	NC_000023.10:g.152835085A>C	(Likely) benign	1 lab	ca47d110ec
1:161641360 FCGR2B C>G	1	161641360	161641360	C	G	FCGR2B	c.312C>G	NM_004001.4	NP_003992.3:p.(Asn104Lys)	NC_000001.10:g.161641360C>G	(Likely) benign	1 lab	ca4831d0d1
14:105413649 AHNAK2 A>G	14	105413649	105413649	A	G	AHNAK2	c.8139T>C	NM_138420.3	NP_612429.2:p.(Asp2713=)	NC_000014.8:g.105413649A>G	(Likely) benign	1 lab	ca48bc4b3b
9:33295195 NFX1 G>A	9	33295195	33295195	G	A	NFX1	c.803G>A	NM_001318758.1	NP_001305687.1:p.(Arg268Gln)	NC_000009.11:g.33295195G>A	(Likely) benign	1 lab	ca4ab2c8d3
17:78059889 CCDC40 G>A	17	78059889	78059889	G	A	CCDC40	c.2323G>A	NM_017950.3	NP_060420.2:p.(Val775Met)	NC_000017.10:g.78059889G>A	(Likely) benign	1 lab	ca4ae8505f
11:65367020 MAP3K11 G>A	11	65367020	65367020	G	A	MAP3K11	c.2051C>T	NM_002419.4	NP_002410.1:p.(Ala684Val)	NC_000011.9:g.65367020G>A	(Likely) benign	1 lab	ca4b88b927
X:41043286 USP9X T>G	X	41043286	41043286	T	G	USP9X	c.3184T>G	NM_001039590.2	NP_001034679.2:p.(Leu1062Val)	NC_000023.10:g.41043286T>G	(Likely) benign	1 lab	ca4baf1a83
X:13727304 RAB9A G>A	X	13727304	13727304	G	A	RAB9A	c.439G>A	NM_004251.4	NP_004242.1:p.(Asp147Asn)	NC_000023.10:g.13727304G>A	(Likely) benign	1 lab	ca4bd8d57a
9:71866026 TJP2 G>T	9	71866026	71866026	G	T	TJP2	c.3067G>T	NM_004817.4	NP_004808.2:p.(Ala1023Ser)	NC_000009.11:g.71866026G>T	VUS	1 lab	ca4c4351f3
7:103138683 RELN C>T	7	103138683	103138683	C	T	RELN	c.8684G>A	NM_173054.2	NP_774959.1:p.(Arg2895His)	NC_000007.13:g.103138683C>T	VUS	1 lab	ca4ed8ec14
17:29554586 NF1 AT>A	17	29554586	29554587	AT	A	NF1	c.2372del	NM_001042492.3	NP_001035957.1:p.(Ile791ThrfsTer30)	NC_000017.10:g.29554587del	(Likely) pathogenic	1 lab	ca4f64e120
18:31324704 ASXL3 AAG>A	18	31324704	31324707	AAG	A	ASXL3	c.4894_4895del	NM_030632.3	NP_085135.1:p.(Glu1632IlefsTer13)	NC_000018.9:g.31324706_31324707del	(Likely) pathogenic	1 lab	ca51a218f9
7:24747797 GSDME G>A	7	24747797	24747797	G	A	GSDME	c.939C>T	NM_004403.2	NP_004394.1:p.(Ile313=)	NC_000007.13:g.24747797G>A	(Likely) benign	1 lab	ca51aa5458
11:128426185 ETS1 C>G	11	128426185	128426185	C	G	ETS1	c.214+1G>C	NM_001143820.1	NP_001137292.1:p.?	NC_000011.9:g.128426185C>G	(Likely) pathogenic	1 lab	ca51b492dd
X:153698904 PLXNA3 CCAGCGCCAGAT>C	X	153698904	153698920	CCAGCGCCAGAT	C	PLXNA3	c.5112_5122del	NM_017514.5	NP_059984.3:p.(Gln1705ProfsTer147)	NC_000023.10:g.153698910_153698920del	VUS	1 lab	ca54d2cb27
19:327157 MIER2 C>G	19	327157	327157	C	G	MIER2	c.469G>C	NM_017550.2	NP_060020.1:p.(Asp157His)	NC_000019.9:g.327157C>G	VUS	1 lab	ca55158ae7
20:3869776 PANK2 G>T	20	3869776	3869776	G	T	PANK2	c.29G>T	NM_153638.2	NP_705902.2:p.(Arg10Leu)	NC_000020.10:g.3869776G>T	(Likely) benign	1 lab	ca56e24797
1:40775640 COL9A2 C>T	1	40775640	40775640	C	T	COL9A2	c.816G>A	NM_001852.4	NP_001843.1:p.(Pro272=)	NC_000001.10:g.40775640C>T	(Likely) benign	1 lab	ca588b2b84
3:186953869 MASP1 T>C	3	186953869	186953869	T	C	MASP1	c.1790A>G	NM_139125.3	NP_624302.1:p.(Asn597Ser)	NC_000003.11:g.186953869T>C	(Likely) benign	1 lab	ca588b3000
1:114445314 AP4B1 G>C	1	114445314	114445314	G	C	AP4B1	c.284C>G	NM_006594.4	NP_006585.2:p.(Ser95Ter)	NC_000001.10:g.114445314G>C	(Likely) pathogenic	1 lab	ca59176dba
1:227081802 PSEN2 G>A	1	227081802	227081802	G	A	PSEN2	c.1167G>A	NM_000447.2	NP_000438.2:p.(Leu389=)	NC_000001.10:g.227081802G>A	(Likely) benign	1 lab	ca5a2eb5d3
7:23207651 KLHL7 A>G	7	23207651	23207651	A	G	KLHL7	c.1230A>G	NM_018846.4	NP_061334.4:p.(Thr410=)	NC_000007.13:g.23207651A>G	(Likely) benign	1 lab	ca5a9a7135
1:22183537 HSPG2 T>C	1	22183537	22183537	T	C	HSPG2	c.5549A>G	NM_001291860.1	NP_001278789.1:p.(Asp1850Gly)	NC_000001.10:g.22183537T>C	VUS	1 lab	ca5b410183
12:7050610 ATN1 C>T	12	7050610	7050610	C	T	ATN1	c.3432C>T	NM_001940.4	NP_001931.2:p.(His1144=)	NC_000012.11:g.7050610C>T	(Likely) benign	1 lab	ca5b837b90
11:108106463 ATM A>T	11	108106463	108106463	A	T	ATM	c.398A>T	NM_000051.3	NP_000042.3:p.(Asn133Ile)	NC_000011.9:g.108106463A>T	VUS	1 lab	ca5c187c6f
16:16284071 ABCC6 C>T	16	16284071	16284071	C	T	ABCC6	c.1585G>A	NM_001171.5	NP_001162.4:p.(Gly529Ser)	NC_000016.9:g.16284071C>T	VUS	1 lab	ca5dac2689
21:46309270 ITGB2 C>T	21	46309270	46309270	C	T	ITGB2	c.1798G>A	NM_000211.3	NP_000202.2:p.(Val600Ile)	NC_000021.8:g.46309270C>T	(Likely) benign	1 lab	ca5e23d203
14:105417241 AHNAK2 A>G	14	105417241	105417241	A	G	AHNAK2	c.4547T>C	NM_138420.3	NP_612429.2:p.(Val1516Ala)	NC_000014.8:g.105417241A>G	(Likely) benign	1 lab	ca6037720d
5:79949873 DHFR A>C	5	79949873	79949873	A	C	DHFR	c.90T>G	NM_000791.3	NP_000782.1:p.(Asn30Lys)	NC_000005.9:g.79949873A>C	(Likely) benign	1 lab	ca621733ad
X:29417363 IL1RAPL1 A>T	X	29417363	29417363	A	T	IL1RAPL1	c.641A>T	NM_014271.3	NP_055086.1:p.(Tyr214Phe)	NC_000023.10:g.29417363A>T	VUS	1 lab	ca62b1a1f1
17:29508740 NF1 T>C	17	29508740	29508740	T	C	NF1	c.667T>C	NM_000267.3	NP_000258.1:p.(Trp223Arg)	NC_000017.10:g.29508740T>C	VUS	1 lab	ca6349ce21
X:16189415 MAGEB17 C>T	X	16189415	16189415	C	T	MAGEB17	c.910C>T	NM_001277307.1	NP_001264236.1:p.(Arg304Trp)	NC_000023.10:g.16189415C>T	VUS	1 lab	ca64206501
19:19790623 ZNF101 TCA>T	19	19790623	19790626	TCA	T	ZNF101	c.827_828del	NM_033204.4	NP_149981.2:p.(His276ArgfsTer25)	NC_000019.9:g.19790625_19790626del	VUS	1 lab	ca66080b1f
6:16327888 ATXN1 C>A	6	16327888	16327888	C	A	ATXN1	c.654G>T	NM_000332.3	NP_000323.2:p.(Gln218His)	NC_000006.11:g.16327888C>A	(Likely) benign	1 lab	ca6617d58e
17:29592271 NF1 A>G	17	29592271	29592271	A	G	NF1	c.4686A>G	NM_000267.3	NP_000258.1:p.(Glu1562=)	NC_000017.10:g.29592271A>G	(Likely) benign	1 lab	ca666b2143
20:19955608 RIN2 A>C	20	19955608	19955608	A	C	RIN2	c.1086A>C	NM_001242581.1	NP_001229510.1:p.(Pro362=)	NC_000020.10:g.19955608A>C	(Likely) benign	1 lab	ca6714858f
14:91770084 CCDC88C T>C	14	91770084	91770084	T	C	CCDC88C	c.3596A>G	NM_001080414.3	NP_001073883.2:p.(His1199Arg)	NC_000014.8:g.91770084T>C	VUS	1 lab	ca6759da8a
17:29653031 NF1 GTCTATA>G	17	29653031	29653043	GTCTATA	G	NF1	c.5036_5041del	NM_001042492.3	NP_001035957.1:p.(Ile1679_Tyr1680del)	NC_000017.10:g.29653038_29653043del	(Likely) pathogenic	1 lab	ca6764ef64
18:67834126 RTTN C>T	18	67834126	67834126	C	T	RTTN	c.1802+29G>A	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67834126C>T	(Likely) benign	1 lab	ca678cc94f
21:47775559 PCNT C>T	21	47775559	47775559	C	T	PCNT	c.1936+18C>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47775559C>T	(Likely) benign	1 lab	ca67d7170a
22:30032776 NF2 TG>T	22	30032776	30032777	TG	T	NF2	c.152del	NM_000268.4	NP_000259.1:p.(Cys51SerfsTer72)	NC_000022.10:g.30032777del	(Likely) pathogenic	1 lab	ca68d4fdd0
17:41246741 BRCA1 C>T	17	41246741	41246741	C	T	BRCA1	c.807G>A	NM_007294.3	NP_009225.1:p.(Leu269=)	NC_000017.10:g.41246741C>T	(Likely) benign	1 lab	ca69699bcc
1:41285171 KCNQ4 C>A	1	41285171	41285171	C	A	KCNQ4	c.834+27C>A	NM_004700.3	NP_004691.2:p.?	NC_000001.10:g.41285171C>A	(Likely) benign	1 lab	ca6aeb3509
5:131329841 ACSL6 C>T	5	131329841	131329841	C	T	ACSL6	c.153G>A	NM_001009185.2	NP_001009185.1:p.(Ser51=)	NC_000005.9:g.131329841C>T	(Likely) benign	1 lab	ca6b6de1dc
9:107582200 ABCA1 G>C	9	107582200	107582200	G	C	ABCA1	c.3103+8C>G	NM_005502.3	NP_005493.2:p.?	NC_000009.11:g.107582200G>C	(Likely) benign	1 lab	ca6c1d753d
X:78426878 GPR174 G>A	X	78426878	78426878	G	A	GPR174	c.374G>A	NM_032553.2	NP_115942.1:p.(Arg125His)	NC_000023.10:g.78426878G>A	VUS	1 lab	ca6c451bdf
12:94769759 CEP83 C>T	12	94769759	94769759	C	T	CEP83	c.836G>A	NM_016122.2	NP_057206.2:p.(Arg279His)	NC_000012.11:g.94769759C>T	VUS	1 lab	ca6c52f02f
8:143993991 CYP11B2 G>A	8	143993991	143993991	G	A	CYP11B2	c.1353C>T	NM_000498.3	NP_000489.3:p.(Leu451=)	NC_000008.10:g.143993991G>A	(Likely) benign	1 lab	ca6dc8980b
12:6692364 CHD4 CT>C	12	6692364	6692365	CT	C	CHD4	c.4059del	NM_001273.5	NP_001264.2:p.(Asp1354IlefsTer92)	NC_000012.11:g.6692365del	VUS	1 lab	ca6e3ba1ae
12:66839226 GRIP1 C>T	12	66839226	66839226	C	T	GRIP1	c.1261G>A	NM_021150.3	NP_066973.2:p.(Val421Ile)	NC_000012.11:g.66839226C>T	VUS	1 lab	ca7027849b
10:5238882 AKR1C4 G>A	10	5238882	5238882	G	A	AKR1C4	c.52G>A	NM_001818.3	NP_001809.3:p.(Val18Ile)	NC_000010.10:g.5238882G>A	(Likely) benign	1 lab	ca707c0e8b
11:47602541 NDUFS3 G>C	11	47602541	47602541	G	C	NDUFS3	c.381+5G>C	NM_004551.2	NP_004542.1:p.?	NC_000011.9:g.47602541G>C	VUS	1 lab	ca7100f0a0
5:6632744 NSUN2 G>A	5	6632744	6632744	G	A	NSUN2	c.222C>T	NM_017755.5	NP_060225.4:p.(Leu74=)	NC_000005.9:g.6632744G>A	(Likely) benign	1 lab	ca71193c59
11:17653625 OTOG A>G	11	17653625	17653625	A	G	OTOG	c.6970-10A>G	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17653625A>G	VUS	1 lab	ca718227bc
14:59992093 CCDC175 A>T	14	59992093	59992093	A	T	CCDC175	c.1902T>A	NM_001164399.2	NP_001157871.1:p.(Asp634Glu)	NC_000014.8:g.59992093A>T	(Likely) benign	1 lab	ca71ad2bd0
11:88911842 TYR G>A	11	88911842	88911842	G	A	TYR	c.721G>A	NM_000372.4	NP_000363.1:p.(Ala241Thr)	NC_000011.9:g.88911842G>A	VUS	1 lab	ca720d2b04
10:135099053 TUBGCP2 G>A	10	135099053	135099053	G	A	TUBGCP2	c.1886C>T	NM_001256617.1	NP_001243546.1:p.(Ala629Val)	NC_000010.10:g.135099053G>A	(Likely) benign	1 lab	ca72ae5b85
10:134733679 CFAP46 G>A	10	134733679	134733679	G	A	CFAP46	c.1614C>T	NM_001200049.3	NP_001186978.2:p.(Thr538=)	NC_000010.10:g.134733679G>A	(Likely) benign	1 lab	ca72e7f360
12:49579697 TUBA1A G>C	12	49579697	49579697	G	C	TUBA1A	c.452C>G	NM_006009.3	NP_006000.2:p.(Ser151Trp)	NC_000012.11:g.49579697G>C	(Likely) pathogenic	1 lab	ca7349d3dd
2:44145523 LRPPRC A>T	2	44145523	44145523	A	T	LRPPRC	c.2911T>A	NM_133259.3	NP_573566.2:p.(Trp971Arg)	NC_000002.11:g.44145523A>T	VUS	1 lab	ca75333cc8
6:137219355 PEX7 C>T	6	137219355	137219355	C	T	PEX7	c.879C>T	NM_000288.3	NP_000279.1:p.(Asp293=)	NC_000006.11:g.137219355C>T	(Likely) benign	1 lab	ca77df23ae
13:86368533 SLITRK6 T>C	13	86368533	86368533	T	C	SLITRK6	c.2111A>G	NM_032229.3	NP_115605.2:p.(Glu704Gly)	NC_000013.10:g.86368533T>C	VUS	1 lab	ca77e88819
3:4490950 SUMF1 T>C	3	4490950	4490950	T	C	SUMF1	c.519A>G	NM_182760.3	NP_877437.2:p.(Ala173=)	NC_000003.11:g.4490950T>C	VUS	1 lab	cae8f599fe
X:119004842 RNF113A C>A	X	119004842	119004842	C	A	RNF113A	c.735G>T	NM_006978.2	NP_008909.1:p.(Glu245Asp)	NC_000023.10:g.119004842C>A	(Likely) benign	1 lab	ca787c1a23
19:7535106 ARHGEF18 C>G	19	7535106	7535106	C	G	ARHGEF18	c.4008C>G	NM_001367823.1	NP_001354752.1:p.(Pro1336=)	NC_000019.9:g.7535106C>G	(Likely) benign	1 lab	ca79298ad5
7:24747872 GSDME C>T	7	24747872	24747872	C	T	GSDME	c.864G>A	NM_004403.2	NP_004394.1:p.(Ala288=)	NC_000007.13:g.24747872C>T	(Likely) benign	1 lab	ca797507af
13:113731460 MISSING C>T	13	113731460	113731460	C	T	MISSING				NC_000013.10:g.113731460C>T	VUS	1 lab	ca79a09c95
11:111735958 ALG9 A>G	11	111735958	111735958	A	G	ALG9	c.422T>C	NM_024740.2	NP_079016.2:p.(Phe141Ser)	NC_000011.9:g.111735958A>G	VUS	1 lab	ca7a1f4a0a
22:31011711 TCN2 C>T	22	31011711	31011711	C	T	TCN2	c.796C>T	NM_001184726.1	NP_001171655.1:p.(Leu266=)	NC_000022.10:g.31011711C>T	(Likely) benign	1 lab	ca7d0821d1
2:179621503 TTN C>A	2	179621503	179621503	C	A	TTN	c.10700G>T	NM_001267550.1	NP_001254479.1:p.(Ser3567Ile)	NC_000002.11:g.179621503C>A	(Likely) benign	1 lab	ca7f4727d1
X:2994602 ARSF G>C	X	2994602	2994602	G	C	ARSF	c.175G>C	NM_001201539.1	NP_001188468.1:p.(Asp59His)	NC_000023.10:g.2994602G>C	VUS	1 lab	ca7fd42daa
X:140983136 MAGEC3 G>A	X	140983136	140983136	G	A	MAGEC3	c.991G>A	NM_138702.1	NP_619647.1:p.(Glu331Lys)	NC_000023.10:g.140983136G>A	(Likely) benign	1 lab	ca816fea4e
11:66617589 PC TGAG>T	11	66617589	66617595	TGAG	T	PC	c.2719-5_2719-3del	NM_001040716.2	NP_001035806.1:p.?	NC_000011.9:g.66617593_66617595del	VUS	1 lab	ca8246928d
4:128886243 MFSD8 C>G	4	128886243	128886243	C	G	MFSD8	c.46G>C	NM_152778.2	NP_689991.1:p.(Asp16His)	NC_000004.11:g.128886243C>G	VUS	1 lab	ca83f05142
2:152466443 NEB G>C	2	152466443	152466443	G	C	NEB	c.12210C>G	NM_001271208.1	NP_001258137.1:p.(Ala4070=)	NC_000002.11:g.152466443G>C	(Likely) benign	1 lab	ca8461b907
17:11725265 DNAH9 T>G	17	11725265	11725265	T	G	DNAH9	c.8736T>G	NM_001372.3	NP_001363.2:p.(Asp2912Glu)	NC_000017.10:g.11725265T>G	(Likely) benign	1 lab	ca86471f25
15:41276035 INO80 C>G	15	41276035	41276035	C	G	INO80	c.4162G>C	NM_017553.3	NP_060023.1:p.(Ala1388Pro)	NC_000015.9:g.41276035C>G	VUS	1 lab	ca86f07c43
9:39358243 SPATA31A1 C>T	9	39358243	39358243	C	T	SPATA31A1	c.481C>T	NM_001085452.3	NP_001078921.3:p.(His161Tyr)	NC_000009.11:g.39358243C>T	(Likely) benign	1 lab	ca87ffa77d
7:47343029 TNS3 C>T	7	47343029	47343029	C	T	TNS3	c.2976G>A	NM_022748.12	NP_073585.8:p.(Glu992=)	NC_000007.13:g.47343029C>T	(Likely) benign	1 lab	ca881b6b90
17:37844168 PGAP3 G>A	17	37844168	37844168	G	A	PGAP3	c.100C>T	NM_033419.4	NP_219487.3:p.(Leu34=)	NC_000017.10:g.37844168G>A	(Likely) benign	1 lab	ca8d2bd406
17:41277322 BRCA1 CGCA>C	17	41277322	41277326	CGCA	C	BRCA1	c.-57_-55del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277324_41277326del	(Likely) benign	1 lab	ca8edc18fb
4:79396682 FRAS1 C>T	4	79396682	79396682	C	T	FRAS1	c.7773C>T	NM_025074.7	NP_079350.5:p.(Thr2591=)	NC_000004.11:g.79396682C>T	(Likely) benign	1 lab	ca902edb0a
1:145538782 ITGA10 G>C	1	145538782	145538782	G	C	ITGA10	c.2893G>C	NM_003637.5	NP_003628.2:p.(Gly965Arg)	NC_000001.10:g.145538782G>C	VUS	1 lab	ca91ec571d
1:11856310 MTHFR C>T	1	11856310	11856310	C	T	MTHFR	c.733G>A	NM_005957.4	NP_005948.3:p.(Asp245Asn)	NC_000001.10:g.11856310C>T	(Likely) benign	1 lab	ca925e4ea4
8:11990403 USP17L7 G>A	8	11990403	11990403	G	A	USP17L7	c.1116C>T	NM_001256869.1	NP_001243798.1:p.(Tyr372=)	NC_000008.10:g.11990403G>A	(Likely) benign	1 lab	ca93842dd4
7:92731410 SAMD9 C>A	7	92731410	92731410	C	A	SAMD9	c.4001G>T	NM_017654.3	NP_060124.2:p.(Arg1334Ile)	NC_000007.13:g.92731410C>A	(Likely) benign	1 lab	ca97e6981e
3:129195269 IFT122 G>A	3	129195269	129195269	G	A	IFT122	c.1081G>A	NM_052985.3	NP_443711.2:p.(Asp361Asn)	NC_000003.11:g.129195269G>A	VUS	1 lab	ca992ec15b
16:2124347 TSC2 A>G	16	2124347	2124347	A	G	TSC2	c.2502A>G	NM_001114382.2	NP_001107854.1:p.(Ser834=)	NC_000016.9:g.2124347A>G	(Likely) benign	1 lab	ca9a75e24c
X:70824465 GCNA A>C	X	70824465	70824465	A	C	GCNA	c.1338A>C	NM_052957.4	NP_443189.1:p.(Lys446Asn)	NC_000023.10:g.70824465A>C	(Likely) benign	1 lab	ca9d7aa90e
3:9984494 CRELD1 C>A	3	9984494	9984494	C	A	CRELD1	c.734-3C>A	NM_015513.4	NP_056328.2:p.?	NC_000003.11:g.9984494C>A	VUS	1 lab	ca9ea0b4a5
12:32875468 DNM1L A>C	12	32875468	32875468	A	C	DNM1L	c.1019A>C	NM_001278464.1	NP_001265393.1:p.(Asp340Ala)	NC_000012.11:g.32875468A>C	(Likely) benign	1 lab	ca9ee34b9e
6:152129363 ESR1 A>G	6	152129363	152129363	A	G	ESR1	c.316A>G	NM_001122742.1	NP_001116214.1:p.(Ser106Gly)	NC_000006.11:g.152129363A>G	VUS	1 lab	caa08dccd4
1:94476889 ABCA4 T>C	1	94476889	94476889	T	C	ABCA4	c.5513A>G	NM_000350.2	NP_000341.2:p.(His1838Arg)	NC_000001.10:g.94476889T>C	VUS	1 lab	caa225003f
3:9490271 SETD5 G>A	3	9490271	9490271	G	A	SETD5	c.2009G>A	NM_001292043.1	NP_001278972.1:p.(Arg670Gln)	NC_000003.11:g.9490271G>A	VUS	1 lab	caa2ae41b6
X:53459275 HSD17B10 C>T	X	53459275	53459275	C	T	HSD17B10	c.277G>A	NM_004493.2	NP_004484.1:p.(Gly93Ser)	NC_000023.10:g.53459275C>T	(Likely) pathogenic	1 lab	caa40c6c33
10:118310690 PNLIP G>A	10	118310690	118310690	G	A	PNLIP	c.405G>A	NM_000936.3	NP_000927.1:p.(Ser135=)	NC_000010.10:g.118310690G>A	(Likely) benign	1 lab	caa4354ef7
5:77409637 AP3B1 G>A	5	77409637	77409637	G	A	AP3B1	c.2041C>T	NM_001271769.1	NP_001258698.1:p.(Arg681Trp)	NC_000005.9:g.77409637G>A	VUS	1 lab	caa45089e0
2:86292464 POLR1A T>C	2	86292464	86292464	T	C	POLR1A	c.1991A>G	NM_015425.5	NP_056240.2:p.(Lys664Arg)	NC_000002.11:g.86292464T>C	(Likely) benign	1 lab	caa6a75ecd
6:14131935 CD83 A>T	6	14131935	14131935	A	T	CD83	c.338A>T	NM_004233.4	NP_004224.1:p.(Asp113Val)	NC_000006.11:g.14131935A>T	(Likely) benign	1 lab	caa85279b9
19:7706659 STXBP2 G>A	19	7706659	7706659	G	A	STXBP2	c.531G>A	NM_001272034.1	NP_001258963.1:p.(Thr177=)	NC_000019.9:g.7706659G>A	(Likely) benign	1 lab	caac16b131
1:40770480 COL9A2 T>C	1	40770480	40770480	T	C	COL9A2	c.1147A>G	NM_001852.4	NP_001843.1:p.(Ile383Val)	NC_000001.10:g.40770480T>C	(Likely) benign	1 lab	caadaaf2e8
9:133759841 ABL1 G>A	9	133759841	133759841	G	A	ABL1	c.2221G>A	NM_007313.2	NP_009297.2:p.(Val741Ile)	NC_000009.11:g.133759841G>A	VUS	1 lab	caaf7b46d9
X:153688562 PLXNA3 C>T	X	153688562	153688562	C	T	PLXNA3	c.39C>T	NM_017514.4	NP_059984.3:p.(Ala13=)	NC_000023.10:g.153688562C>T	(Likely) benign	1 lab	cab03e343e
7:128034535 IMPDH1 C>T	7	128034535	128034535	C	T	IMPDH1	c.1669G>A	NM_000883.3	NP_000874.2:p.(Gly557Arg)	NC_000007.13:g.128034535C>T	VUS	1 lab	cab04af471
9:131670068 LRRC8A G>A	9	131670068	131670068	G	A	LRRC8A	c.625G>A	NM_001127244.1	NP_001120716.1:p.(Val209Met)	NC_000009.11:g.131670068G>A	(Likely) benign	1 lab	cab08aa3ef
15:41102111 ZFYVE19 C>T	15	41102111	41102111	C	T	ZFYVE19	c.514C>T	NM_001077268.1	NP_001070736.1:p.(Arg172Ter)	NC_000015.9:g.41102111C>T	VUS	1 lab	cab20da30b
7:19156599 TWIST1 G>C	7	19156599	19156599	G	C	TWIST1	c.346C>G	NM_000474.3	NP_000465.1:p.(Arg116Gly)	NC_000007.13:g.19156599G>C	VUS	1 lab	cab2419629
2:179587883 TTN G>A	2	179587883	179587883	G	A	TTN	c.21851C>T	NM_001267550.1	NP_001254479.1:p.(Thr7284Ile)	NC_000002.11:g.179587883G>A	(Likely) benign	1 lab	cab2b59937
20:62322292 RTEL1 G>A	20	62322292	62322292	G	A	RTEL1	c.2548G>A	NM_001283009.1	NP_001269938.1:p.(Glu850Lys)	NC_000020.10:g.62322292G>A	(Likely) benign	1 lab	cab4e411b6
15:90171842 KIF7 C>T	15	90171842	90171842	C	T	KIF7	c.3840G>A	NM_198525.2	NP_940927.2:p.(Ser1280=)	NC_000015.9:g.90171842C>T	(Likely) benign	1 lab	cab65d5f13
6:144803421 UTRN A>G	6	144803421	144803421	A	G	UTRN	c.3584A>G	NM_007124.2	NP_009055.2:p.(Lys1195Arg)	NC_000006.11:g.144803421A>G	(Likely) benign	1 lab	cab6bd04dd
X:2867549 ARSL G>A	X	2867549	2867549	G	A	ARSL	c.725C>T	NM_001282628.1	NP_001269557.1:p.(Thr242Ile)	NC_000023.10:g.2867549G>A	(Likely) benign	1 lab	cab7508650
4:79258955 FRAS1 C>T	4	79258955	79258955	C	T	FRAS1	c.2406C>T	NM_025074.7	NP_079350.5:p.(Leu802=)	NC_000004.11:g.79258955C>T	(Likely) benign	1 lab	cab77dbe56
4:126370455 FAT4 A>C	4	126370455	126370455	A	C	FAT4	c.8290A>C	NM_001291303.1	NP_001278232.1:p.(Asn2764His)	NC_000004.11:g.126370455A>C	(Likely) benign	1 lab	cab7e7b575
4:8869788 HMX1 G>C	4	8869788	8869788	G	C	HMX1	c.678C>G	NM_018942.2	NP_061815.2:p.(Arg226=)	NC_000004.11:g.8869788G>C	(Likely) benign	1 lab	caba416850
20:2398198 TGM6 G>A	20	2398198	2398198	G	A	TGM6	c.1657G>A	NM_198994.2	NP_945345.2:p.(Val553Met)	NC_000020.10:g.2398198G>A	(Likely) benign	1 lab	cabb05c6e8
7:24738788 GSDME G>A	7	24738788	24738788	G	A	GSDME	c.1348C>T	NM_004403.2	NP_004394.1:p.(Arg450Cys)	NC_000007.13:g.24738788G>A	VUS	1 lab	cabe62febd
X:149882960 MTMR1 G>A	X	149882960	149882960	G	A	MTMR1	c.262G>A	NM_001353990.1	NP_001340919.1:p.(Glu88Lys)	NC_000023.10:g.149882960G>A	(Likely) benign	1 lab	cabe87bf92
X:2861237 ARSL C>T	X	2861237	2861237	C	T	ARSL	c.1070G>A	NM_001282628.1	NP_001269557.1:p.(Arg357Gln)	NC_000023.10:g.2861237C>T	(Likely) benign	1 lab	cabeacac76
5:90106411 ADGRV1 C>T	5	90106411	90106411	C	T	ADGRV1	c.15334C>T	NM_032119.4	NP_115495.3:p.(Arg5112Cys)	NC_000005.9:g.90106411C>T	VUS	1 lab	cac0264027
17:6459711 PITPNM3 G>A	17	6459711	6459711	G	A	PITPNM3	c.16C>T	NM_031220.3	NP_112497.2:p.(Arg6Cys)	NC_000017.10:g.6459711G>A	(Likely) benign	1 lab	cac39525b7
3:48802777 PRKAR2A C>G	3	48802777	48802777	C	G	PRKAR2A	c.702G>C	NM_004157.4	NP_004148.1:p.(Arg234=)	NC_000003.11:g.48802777C>G	(Likely) benign	1 lab	cac4da340c
X:70361121 MED12 A>G	X	70361121	70361121	A	G	MED12	c.6309A>G	NM_005120.2	NP_005111.2:p.(Gln2103=)	NC_000023.10:g.70361121A>G	(Likely) benign	1 lab	cac6e1a6a8
16:5129764 ALG1 C>T	16	5129764	5129764	C	T	ALG1	c.917C>T	NM_019109.4	NP_061982.3:p.(Thr306Ile)	NC_000016.9:g.5129764C>T	(Likely) benign	1 lab	cac7c908ee
1:223803844 MISSING G>A	1	223803844	223803844	G	A	MISSING				NC_000001.10:g.223803844G>A	VUS	1 lab	cac96a0854
14:23889213 MYH7 G>A	14	23889213	23889213	G	A	MYH7	c.3567C>T	NM_000257.2	NP_000248.2:p.(Ala1189=)	NC_000014.8:g.23889213G>A	(Likely) benign	1 lab	cacaea0639
16:75576580 TMEM231 A>G	16	75576580	75576580	A	G	TMEM231	c.584T>C	NM_001077418.3	NP_001070886.1:p.(Ile195Thr)	NC_000016.9:g.75576580A>G	VUS	1 lab	cacca463f7
17:29653215 NF1 AG>A	17	29653215	29653217	AG	A	NF1	c.5215del	NM_001042492.3	NP_001035957.1:p.(Val1739TyrfsTer8)	NC_000017.10:g.29653217del	(Likely) pathogenic	1 lab	caccb0e220
5:135383016 TGFBI C>T	5	135383016	135383016	C	T	TGFBI	c.678C>T	NM_000358.2	NP_000349.1:p.(Asn226=)	NC_000005.9:g.135383016C>T	(Likely) benign	1 lab	cacd2ce1bf
X:49067093 CACNA1F G>A	X	49067093	49067093	G	A	CACNA1F	c.4475C>T	NM_005183.3	NP_005174.2:p.(Pro1492Leu)	NC_000023.10:g.49067093G>A	VUS	1 lab	cacd2dd0b3
14:64634088 SYNE2 G>A	14	64634088	64634088	G	A	SYNE2	c.16743G>A	NM_182914.2	NP_878918.2:p.(Thr5581=)	NC_000014.8:g.64634088G>A	(Likely) benign	1 lab	cacd99ed07
12:49426651 KMT2D T>TGCTGCTGCTGTTGTTGAA	12	49426651	49426679	T	TGCTGCTGCTGTTGTTGAA	KMT2D	c.11819_11836dup	NM_003482.3	NP_003473.3:p.(Leu3940_Gln3945dup)	NC_000012.11:g.49426662_49426679dup	VUS	1 lab	cacdc0d144
11:68125187 LRP5 G>A	11	68125187	68125187	G	A	LRP5	c.558G>A	NM_002335.3	NP_002326.2:p.(Arg186=)	NC_000011.9:g.68125187G>A	(Likely) benign	1 lab	cacfba43c7
11:47306742 MADD A>G	11	47306742	47306742	A	G	MADD	c.2408A>G	NM_003682.3	NP_003673.3:p.(Asn803Ser)	NC_000011.9:g.47306742A>G	(Likely) benign	1 lab	cad2cc8745
18:6961671 LAMA1 A>G	18	6961671	6961671	A	G	LAMA1	c.7540T>C	NM_005559.3	NP_005550.2:p.(Phe2514Leu)	NC_000018.9:g.6961671A>G	VUS	1 lab	cad3d1c7ca
16:4935806 PPL G>A	16	4935806	4935806	G	A	PPL	c.2850C>T	NM_002705.5	NP_002696.4:p.(Phe950=)	NC_000016.9:g.4935806G>A	(Likely) benign	1 lab	cad3f25aa3
15:49089850 CEP152 A>C	15	49089850	49089850	A	C	CEP152	c.261+8T>G	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49089850A>C	(Likely) benign	1 lab	cad603c400
4:140640714 MAML3 C>T	4	140640714	140640714	C	T	MAML3	c.3180G>A	NM_018717.5	NP_061187.3:p.(Ala1060=)	NC_000004.11:g.140640714C>T	(Likely) benign	1 lab	cad6a8e80c
12:80933694 MISSING A>G	12	80933694	80933694	A	G	MISSING				NC_000012.11:g.80933694A>G	VUS	1 lab	cad7c049d4
19:46283581 DMPK C>T	19	46283581	46283581	C	T	DMPK	c.238G>A	NM_001288764.1	NP_001275693.1:p.(Ala80Thr)	NC_000019.9:g.46283581C>T	(Likely) benign	1 lab	cad7c4e64a
19:35523532 SCN1B C>T	19	35523532	35523532	C	T	SCN1B	c.141C>T	NM_199037.4	NP_950238.1:p.(Ser47=)	NC_000019.9:g.35523532C>T	(Likely) benign	1 lab	cad949ca2d
4:2252897 MXD4 C>A	4	2252897	2252897	C	A	MXD4	c.386G>T	NM_006454.2	NP_006445.1:p.(Arg129Leu)	NC_000004.11:g.2252897C>A	VUS	1 lab	cade47b85a
2:179436040 TTN A>T	2	179436040	179436040	A	T	TTN	c.74819T>A	NM_001267550.1	NP_001254479.1:p.(Val24940Asp)	NC_000002.11:g.179436040A>T	VUS	1 lab	cade4846b2
16:88789722 PIEZO1 T>C	16	88789722	88789722	T	C	PIEZO1	c.4350A>G	NM_001142864.4	NP_001136336.2:p.(Ala1450=)	NC_000016.9:g.88789722T>C	(Likely) benign	1 lab	cae1d2eb87
17:44073988 MAPT C>T	17	44073988	44073988	C	T	MAPT	c.780C>T	NM_005910.5	NP_005901.2:p.(Ile260=)	NC_000017.10:g.44073988C>T	(Likely) benign	1 lab	cae291df15
13:77566108 CLN5 G>C	13	77566108	77566108	G	C	CLN5	c.22G>C	NM_006493.2	NP_006484.1:p.(Gly8Arg)	NC_000013.10:g.77566108G>C	(Likely) benign	1 lab	cae495eb53
X:108695344 GUCY2F G>C	X	108695344	108695344	G	C	GUCY2F	c.1388-8C>G	NM_001522.2	NP_001513.2:p.?	NC_000023.10:g.108695344G>C	(Likely) benign	1 lab	cae4fbeda8
1:12318079 VPS13D G>A	1	12318079	12318079	G	A	VPS13D	c.1029G>A	NM_015378.4	NP_056193.2:p.(Leu343=)	NC_000001.10:g.12318079G>A	(Likely) benign	1 lab	cae5547bdb
6:32008520 CYP21A2 C>T	6	32008520	32008520	C	T	CYP21A2	c.1194C>T	NM_000500.9	NP_000491.4:p.(Val398=)	NC_000006.11:g.32008520C>T	(Likely) benign	1 lab	cae77b32b0
17:29483146 NF1 T>G	17	29483146	29483146	T	G	NF1	c.204+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29483146T>G	(Likely) pathogenic	1 lab	cae7f4f2e4
X:40594642 MED14 T>C	X	40594642	40594642	T	C	MED14	c.23A>G	NM_004229.3	NP_004220.2:p.(Asn8Ser)	NC_000023.10:g.40594642T>C	(Likely) benign	1 lab	cae89d87a5
X:134156480 RTL8B G>A	X	134156480	134156480	G	A	RTL8B	c.10C>T	NM_001078173.1	NP_001071641.1:p.(Arg4Ter)	NC_000023.10:g.134156480G>A	(Likely) benign	1 lab	caeb0ad676
12:49434054 KMT2D G>C	12	49434054	49434054	G	C	KMT2D	c.7499C>G	NM_003482.3	NP_003473.3:p.(Ala2500Gly)	NC_000012.11:g.49434054G>C	(Likely) benign	1 lab	caebcaa513
8:6302479 MCPH1 T>C	8	6302479	6302479	T	C	MCPH1	c.1236T>C	NM_024596.4	NP_078872.2:p.(Tyr412=)	NC_000008.10:g.6302479T>C	(Likely) benign	1 lab	caec691ab1
7:151879593 KMT2C T>TTGC	7	151879593	151879609	T	TTGC	KMT2C	c.5349_5351dup	NM_170606.2	NP_733751.2:p.(Gln1787dup)	NC_000007.13:g.151879607_151879609dup	VUS	1 lab	caec6b2fa1
8:145737915 RECQL4 T>A	8	145737915	145737915	T	A	RECQL4	c.2915A>T	NM_004260.3	NP_004251.3:p.(Gln972Leu)	NC_000008.10:g.145737915T>A	(Likely) benign	1 lab	caed5b9c1e
X:105189992 NRK T>C	X	105189992	105189992	T	C	NRK	c.4188T>C	NM_198465.3	NP_940867.2:p.(His1396=)	NC_000023.10:g.105189992T>C	(Likely) benign	1 lab	caeee05597
15:62320573 VPS13C G>A	15	62320573	62320573	G	A	VPS13C	c.432C>T	NM_001018088.2	NP_001018098.1:p.(Tyr144=)	NC_000015.9:g.62320573G>A	(Likely) benign	1 lab	caeef58add
10:13174107 OPTN C>T	10	13174107	13174107	C	T	OPTN	c.1442C>T	NM_001008211.1	NP_001008212.1:p.(Ala481Val)	NC_000010.10:g.13174107C>T	(Likely) benign	1 lab	caf2819791
17:1257550 YWHAE A>G	17	1257550	1257550	A	G	YWHAE	c.670T>C	NM_006761.4	NP_006752.1:p.(Leu224=)	NC_000017.10:g.1257550A>G	(Likely) benign	1 lab	caf2a714e5
2:179594206 TTN G>T	2	179594206	179594206	G	T	TTN	c.18677C>A	NM_001267550.1	NP_001254479.1:p.(Pro6226His)	NC_000002.11:g.179594206G>T	(Likely) benign	1 lab	caf3fc10ce
1:155408507 MISSING G>A	1	155408507	155408507	G	A	MISSING				NC_000001.10:g.155408507G>A	(Likely) benign	1 lab	caf5b19b00
1:207513872 CD55 G>A	1	207513872	207513872	G	A	CD55	c.1218G>A	NM_001300902.1	NP_001287831.1:p.(Pro406=)	NC_000001.10:g.207513872G>A	(Likely) benign	1 lab	caf65ac879
X:99662111 PCDH19 C>T	X	99662111	99662111	C	T	PCDH19	c.1485G>A	NM_001184880.1	NP_001171809.1:p.(Ser495=)	NC_000023.10:g.99662111C>T	(Likely) benign	1 lab	caf9b30705
19:48041613 ZNF541 C>T	19	48041613	48041613	C	T	ZNF541	c.2880G>A	NM_001277075.2	NP_001264004.1:p.(Thr960=)	NC_000019.9:g.48041613C>T	VUS	1 lab	caf9baee5f
19:54652366 CNOT3 G>A	19	54652366	54652366	G	A	CNOT3	c.1294G>A	NM_014516.4	NP_055331.1:p.(Val432Ile)	NC_000019.9:g.54652366G>A	VUS	1 lab	cafa6416dc
9:123744227 C5 A>G	9	123744227	123744227	A	G	C5	c.3409-10T>C	NM_001317163.1	NP_001304092.1:p.?	NC_000009.11:g.123744227A>G	(Likely) benign	1 lab	cafc7ae116
2:55883293 PNPT1 C>T	2	55883293	55883293	C	T	PNPT1	c.1414G>A	NM_033109.4	NP_149100.2:p.(Val472Ile)	NC_000002.11:g.55883293C>T	VUS	1 lab	cafdea3d14
9:131344816 SPTAN1 T>G	9	131344816	131344816	T	G	SPTAN1	c.1631T>G	NM_001363759.1	NP_001350688.1:p.(Val544Gly)	NC_000009.11:g.131344816T>G	VUS	1 lab	cafdf522ad
X:49069237 CACNA1F G>A	X	49069237	49069237	G	A	CACNA1F	c.3865C>T	NM_005183.3	NP_005174.2:p.(Arg1289Cys)	NC_000023.10:g.49069237G>A	VUS	1 lab	cafe5ebeb5
17:29496925 NF1 GTT>G	17	29496925	29496928	GTT	G	NF1	c.498_499del	NM_001042492.3	NP_001035957.1:p.(Cys167PhefsTer6)	NC_000017.10:g.29496927_29496928del	(Likely) pathogenic	1 lab	cafe6ac216
X:152087590 ZNF185 G>T	X	152087590	152087590	G	T	ZNF185	c.495G>T	NM_001178106.1	NP_001171577.1:p.(Glu165Asp)	NC_000023.10:g.152087590G>T	(Likely) benign	1 lab	cafeb88ee1
5:41176790 C6 C>T	5	41176790	41176790	C	T	C6	c.955G>A	NM_001115131.2	NP_001108603.2:p.(Val319Met)	NC_000005.9:g.41176790C>T	VUS	1 lab	cb019c0ada
17:29587485 NF1 T>C	17	29587485	29587485	T	C	NF1	c.4466T>C	NM_000267.3	NP_000258.1:p.(Leu1489Pro)	NC_000017.10:g.29587485T>C	VUS	1 lab	cb037d12cb
17:29586107 NF1 T>G	17	29586107	29586107	T	G	NF1	c.4327T>G	NM_000267.3	NP_000258.1:p.(Phe1443Val)	NC_000017.10:g.29586107T>G	VUS	1 lab	cb0520e4be
1:66064470 LEPR G>A	1	66064470	66064470	G	A	LEPR	c.977G>A	NM_001003679.3	NP_001003679.1:p.(Arg326His)	NC_000001.10:g.66064470G>A	(Likely) benign	1 lab	cb05d62792
X:123467298 TEX13D C>T	X	123467298	123467298	C	T	TEX13D	c.531C>T	NM_001355534.1	NP_001342463.1:p.(Pro177=)	NC_000023.10:g.123467298C>T	(Likely) benign	1 lab	cb06ec658b
5:131944890 RAD50 G>A	5	131944890	131944890	G	A	RAD50	c.2911G>A	NM_005732.3	NP_005723.2:p.(Asp971Asn)	NC_000005.9:g.131944890G>A	(Likely) benign	1 lab	cb07243133
5:74101011 FAM169A C>T	5	74101011	74101011	C	T	FAM169A	c.769G>A	NM_015566.3	NP_056381.1:p.(Ala257Thr)	NC_000005.9:g.74101011C>T	VUS	1 lab	cb09d56841
6:17804730 KIF13A G>A	6	17804730	17804730	G	A	KIF13A	c.2316C>T	NM_001105568.2	NP_001099038.1:p.(Leu772=)	NC_000006.11:g.17804730G>A	(Likely) benign	1 lab	cb0b955b77
7:138602792 KIAA1549 C>T	7	138602792	138602792	C	T	KIAA1549	c.1580G>A	NM_001164665.1	NP_001158137.1:p.(Arg527His)	NC_000007.13:g.138602792C>T	(Likely) benign	1 lab	cb0ff1be56
9:73479436 TRPM3 G>A	9	73479436	73479436	G	A	TRPM3				NC_000009.11:g.73479436G>A	(Likely) benign	1 lab	cb112858d1
2:27706504 IFT172 G>A	2	27706504	27706504	G	A	IFT172	c.425C>T	NM_015662.2	NP_056477.1:p.(Thr142Ile)	NC_000002.11:g.27706504G>A	VUS	1 lab	cb12077c8c
X:48674928 HDAC6 A>G	X	48674928	48674928	A	G	HDAC6	c.1679A>G	NM_006044.3	NP_006035.2:p.(His560Arg)	NC_000023.10:g.48674928A>G	VUS	1 lab	cb13b94d32
8:61178602 CA8 G>A	8	61178602	61178602	G	A	CA8	c.299C>T	NM_004056.5	NP_004047.3:p.(Ser100Leu)	NC_000008.10:g.61178602G>A	(Likely) benign	1 lab	cb147fba91
X:16876914 RBBP7 G>A	X	16876914	16876914	G	A	RBBP7	c.366C>T	NM_002893.3	NP_002884.1:p.(His122=)	NC_000023.10:g.16876914G>A	(Likely) benign	1 lab	cb1526b8a9
16:57938645 CNGB1 A>C	16	57938645	57938645	A	C	CNGB1	c.2627T>G	NM_001297.4	NP_001288.3:p.(Ile876Ser)	NC_000016.9:g.57938645A>C	VUS	1 lab	cb159501e7
9:123808535 C5 A>G	9	123808535	123808535	A	G	C5	c.210T>C	NM_001317163.1	NP_001304092.1:p.(Phe70=)	NC_000009.11:g.123808535A>G	(Likely) benign	1 lab	cb15ee6790
8:145741618 RECQL4 C>T	8	145741618	145741618	C	T	RECQL4	c.885G>A	NM_004260.3	NP_004251.3:p.(Glu295=)	NC_000008.10:g.145741618C>T	(Likely) benign	1 lab	cb161afed8
2:15542291 NBAS C>T	2	15542291	15542291	C	T	NBAS	c.3071+1G>A	NM_015909.3	NP_056993.2:p.?	NC_000002.11:g.15542291C>T	(Likely) pathogenic	1 lab	cb16643073
18:57122164 CCBE1 G>C	18	57122164	57122164	G	C	CCBE1	c.573C>G	NM_133459.4	NP_597716.1:p.(Asn191Lys)	NC_000018.9:g.57122164G>C	(Likely) benign	1 lab	cb1727d503
16:3705859 DNASE1 C>T	16	3705859	3705859	C	T	DNASE1	c.157C>T	NM_005223.3	NP_005214.2:p.(Arg53Cys)	NC_000016.9:g.3705859C>T	VUS	1 lab	cb17d28751
7:19156577 TWIST1 G>C	7	19156577	19156577	G	C	TWIST1	c.368C>G	NM_000474.3	NP_000465.1:p.(Ser123Trp)	NC_000007.13:g.19156577G>C	(Likely) pathogenic	1 lab	cb17ebd54e
8:87666245 CNGB3 ATTTTG>A	8	87666245	87666251	ATTTTG	A	CNGB3	c.893_897del	NM_019098.5	NP_061971.3:p.(Thr298IlefsTer12)	NC_000008.10:g.87666247_87666251del	(Likely) pathogenic	1 lab	cb18861867
4:5747077 EVC C>T	4	5747077	5747077	C	T	EVC	c.939+9C>T	NM_153717.2	NP_714928.1:p.?	NC_000004.11:g.5747077C>T	(Likely) benign	1 lab	cb1d9a7156
12:49578820 TUBA1A C>T	12	49578820	49578820	C	T	TUBA1A	c.1329G>A	NM_001270399.1	NP_001257328.1:p.(Glu443=)	NC_000012.11:g.49578820C>T	(Likely) benign	1 lab	cb1e734574
X:136112642 GPR101 C>T	X	136112642	136112642	C	T	GPR101	c.1192G>A	NM_054021.1	NP_473362.1:p.(Ala398Thr)	NC_000023.10:g.136112642C>T	VUS	1 lab	cb1e98c349
15:23889971 MAGEL2 CGGGCCCTCCCAGGCACTCAGGGCCCAGGATGCGCTGGGCCCTTCCCAGCCACTCAGGATCCTGGAGGTGCTA>C	15	23889971	23890054	CGGGCCCTCCCAGGCACTCAGGGCCCAGGATGCGCTGGGCCCTTCCCAGCCACTCAGGATCCTGGAGGTGCTA	C	MAGEL2	c.2847_2918del	NM_019066.5	NP_061939.3:p.(Ile954_Arg977del)	NC_000015.9:g.23889983_23890054del	(Likely) benign	1 lab	cb1ede6cc6
1:22192211 HSPG2 G>A	1	22192211	22192211	G	A	HSPG2	c.4316C>T	NM_001291860.1	NP_001278789.1:p.(Thr1439Met)	NC_000001.10:g.22192211G>A	VUS	1 lab	cb1f4564ca
14:64898244 MTHFD1 T>C	14	64898244	64898244	T	C	MTHFD1	c.1312-6T>C	NM_005956.4	NP_005947.3:p.?	NC_000014.8:g.64898244T>C	(Likely) benign	1 lab	cb1fb23db4
6:152631813 SYNE1 C>T	6	152631813	152631813	C	T	SYNE1	c.16896+10G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152631813C>T	(Likely) benign	1 lab	cb20c6cc2a
5:13901641 DNAH5 A>C	5	13901641	13901641	A	C	DNAH5	c.1772T>G	NM_001369.2	NP_001360.1:p.(Leu591Arg)	NC_000005.9:g.13901641A>C	(Likely) benign	1 lab	cb22042769
2:166231368 SCN2A C>G	2	166231368	166231368	C	G	SCN2A	c.4146C>G	NM_021007.2	NP_066287.2:p.(Asn1382Lys)	NC_000002.11:g.166231368C>G	VUS	1 lab	cb239296b1
2:189864579 COL3A1 C>T	2	189864579	189864579	C	T	COL3A1	c.2241C>T	NM_000090.3	NP_000081.1:p.(Gly747=)	NC_000002.11:g.189864579C>T	(Likely) benign	1 lab	cb23985c7f
15:75640319 NEIL1 T>G	15	75640319	75640319	T	G	NEIL1	c.188T>G	NM_001256552.1	NP_001243481.1:p.(Phe63Cys)	NC_000015.9:g.75640319T>G	VUS	1 lab	cb2477bbd9
X:9728853 GPR143 C>T	X	9728853	9728853	C	T	GPR143	c.264G>A	NM_000273.2	NP_000264.2:p.(Arg88=)	NC_000023.10:g.9728853C>T	(Likely) benign	1 lab	cb248b7bf5
12:6620401 NCAPD2 TGAA>T	12	6620401	6620410	TGAA	T	NCAPD2	c.577_579del	NM_014865.4	NP_055680.3:p.(Glu193del)	NC_000012.11:g.6620408_6620410del	VUS	1 lab	cb251b2e82
8:131140189 ASAP1 G>A	8	131140189	131140189	G	A	ASAP1	c.1344C>T	NM_001247996.1	NP_001234925.1:p.(Cys448=)	NC_000008.10:g.131140189G>A	(Likely) benign	1 lab	cb27653db6
2:179519213 TTN G>A	2	179519213	179519213	G	A	TTN	c.38255C>T	NM_001267550.1	NP_001254479.1:p.(Pro12752Leu)	NC_000002.11:g.179519213G>A	VUS	1 lab	cb29f6a68c
2:166810232 TTC21B G>A	2	166810232	166810232	G	A	TTC21B	c.-17C>T	NM_024753.4	NP_079029.3:p.?	NC_000002.11:g.166810232G>A	(Likely) benign	1 lab	cb2a243df0
12:122064679 ORAI1 G>A	12	122064679	122064679	G	A	ORAI1	c.32G>A	NM_032790.3	NP_116179.2:p.(Arg11His)	NC_000012.11:g.122064679G>A	(Likely) benign	1 lab	cb2b29f93c
1:228473950 OBSCN G>A	1	228473950	228473950	G	A	OBSCN	c.10463G>A	NM_001271223.2	NP_001258152.2:p.(Gly3488Asp)	NC_000001.10:g.228473950G>A	VUS	1 lab	cb2db8b253
17:76476820 DNAH17 G>A	17	76476820	76476820	G	A	DNAH17	c.7698C>T	NM_173628.3	NP_775899.3:p.(Tyr2566=)	NC_000017.10:g.76476820G>A	(Likely) benign	1 lab	cb2dd3f70d
21:46897722 COL18A1 G>A	21	46897722	46897722	G	A	COL18A1	c.2309G>A	NM_130444.3	NP_569711.2:p.(Gly770Asp)	NC_000021.8:g.46897722G>A	(Likely) benign	1 lab	cb2e24da9f
10:100189568 HPS1 C>G	10	100189568	100189568	C	G	HPS1	c.847G>C	NM_000195.4	NP_000186.2:p.(Gly283Arg)	NC_000010.10:g.100189568C>G	(Likely) benign	1 lab	cb31af3be9
13:113634043 MCF2L G>A	13	113634043	113634043	G	A	MCF2L	c.62G>A	NM_001320816.1	NP_001307745.1:p.(Arg21His)	NC_000013.10:g.113634043G>A	(Likely) benign	1 lab	cb31bc0a80
20:401599 RBCK1 G>A	20	401599	401599	G	A	RBCK1	c.715G>A	NM_006462.5	NP_006453.1:p.(Glu239Lys)	NC_000020.10:g.401599G>A	VUS	1 lab	cb330cb0b7
13:20716317 GJA3 C>T	13	20716317	20716317	C	T	GJA3	c.1111G>A	NM_021954.3	NP_068773.2:p.(Ala371Thr)	NC_000013.10:g.20716317C>T	(Likely) benign	1 lab	cb340ec998
20:47634006 ARFGEF2 A>AT	20	47634006	47634014	A	AT	ARFGEF2	c.4455-19dup	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47634014dup	(Likely) benign	1 lab	cb345bc4ec
18:44057587 LOXHD1 C>T	18	44057587	44057587	C	T	LOXHD1	c.6484G>A	NM_144612.6	NP_653213.6:p.(Asp2162Asn)	NC_000018.9:g.44057587C>T	VUS	1 lab	cb377b2e95
3:167245750 WDR49 C>A	3	167245750	167245750	C	A	WDR49	c.2429G>T	NM_001348951.1	NP_001335880.1:p.(Arg810Ile)	NC_000003.11:g.167245750C>A	VUS	1 lab	cb37c4c01f
X:36091449 CFAP47 C>T	X	36091449	36091449	C	T	CFAP47	c.4659C>T	NM_001304548.1	NP_001291477.1:p.(Pro1553=)	NC_000023.10:g.36091449C>T	(Likely) benign	1 lab	cb38429c8e
17:80037457 FASN C>A	17	80037457	80037457	C	A	FASN	c.7174G>T	NM_004104.5	NP_004095.4:p.(Gly2392Cys)	NC_000017.10:g.80037457C>A	(Likely) benign	1 lab	cb392ee74e
X:128630743 SMARCA1 G>A	X	128630743	128630743	G	A	SMARCA1	c.1610C>T	NM_003069.4	NP_003060.2:p.(Pro537Leu)	NC_000023.10:g.128630743G>A	VUS	1 lab	cb3a77a135
14:74753420 ABCD4 C>T	14	74753420	74753420	C	T	ABCD4	c.1736G>A	NM_020325.2	NP_064730.1:p.(Arg579Gln)	NC_000014.8:g.74753420C>T	(Likely) benign	1 lab	cb3acf8ad3
8:32621346 NRG1 C>T	8	32621346	32621346	C	T	NRG1	c.1364C>T	NM_013956.4	NP_039250.2:p.(Ser455Leu)	NC_000008.10:g.32621346C>T	VUS	1 lab	cb3afdbad5
15:78398107 CIB2 C>G	15	78398107	78398107	C	G	CIB2	c.531G>C	NM_001301224.1	NP_001288153.1:p.(Met177Ile)	NC_000015.9:g.78398107C>G	VUS	1 lab	cb3bb2c3a7
17:2238069 TSR1 TTG>T	17	2238069	2238071	TTG	T	TSR1	c.676_677del	NM_018128.5	NP_060598.3:p.(Gln226ThrfsTer8)	NC_000017.10:g.2238070_2238071del	VUS	1 lab	cb3bcadce0
17:72306291 DNAI2 G>A	17	72306291	72306291	G	A	DNAI2	c.1483G>A	NM_023036.5	NP_075462.3:p.(Val495Ile)	NC_000017.10:g.72306291G>A	(Likely) benign	1 lab	cb3d843de2
22:18566240 PEX26 G>C	22	18566240	18566240	G	C	PEX26	c.409G>C	NM_001127649.2	NP_001121121.1:p.(Val137Leu)	NC_000022.10:g.18566240G>C	(Likely) benign	1 lab	cb3dcbeeaa
11:18764015 PTPN5 G>A	11	18764015	18764015	G	A	PTPN5	c.423C>T	NM_001278236.1	NP_001265165.1:p.(Pro141=)	NC_000011.9:g.18764015G>A	(Likely) benign	1 lab	cb3def314a
14:21992767 SALL2 G>A	14	21992767	21992767	G	A	SALL2	c.1095C>T	NM_005407.2	NP_005398.2:p.(Pro365=)	NC_000014.8:g.21992767G>A	(Likely) benign	1 lab	cb3e1f1be1
11:73814381 C2CD3 T>C	11	73814381	73814381	T	C	C2CD3	c.2375A>G	NM_001286577.1	NP_001273506.1:p.(Asn792Ser)	NC_000011.9:g.73814381T>C	VUS	1 lab	cb3f41a2eb
13:41382672 SLC25A15 T>C	13	41382672	41382672	T	C	SLC25A15	c.721T>C	NM_014252.3	NP_055067.1:p.(Ser241Pro)	NC_000013.10:g.41382672T>C	(Likely) benign	1 lab	cb3f48b041
6:152740711 SYNE1 C>A	6	152740711	152740711	C	A	SYNE1	c.5414G>T	NM_182961.3	NP_892006.3:p.(Arg1805Leu)	NC_000006.11:g.152740711C>A	(Likely) benign	1 lab	cb3f7abb5a
1:207737244 CR1 C>T	1	207737244	207737244	C	T	CR1	c.3622C>T	NM_000651.5	NP_000642.3:p.(Arg1208Cys)	NC_000001.10:g.207737244C>T	VUS	1 lab	cb3fd0a237
X:70357061 MED12 G>A	X	70357061	70357061	G	A	MED12	c.5576G>A	NM_005120.2	NP_005111.2:p.(Arg1859His)	NC_000023.10:g.70357061G>A	VUS	1 lab	cb41d39eb1
X:47086452 CDK16 A>G	X	47086452	47086452	A	G	CDK16	c.1213A>G	NM_033018.3	NP_148978.2:p.(Asn405Asp)	NC_000023.10:g.47086452A>G	(Likely) benign	1 lab	cb4534a51c
X:107169363 MID2 A>G	X	107169363	107169363	A	G	MID2	c.1637A>G	NM_012216.3	NP_036348.2:p.(Lys546Arg)	NC_000023.10:g.107169363A>G	(Likely) benign	1 lab	cb453c0852
19:39421241 SARS2 C>T	19	39421241	39421241	C	T	SARS2	c.136G>A	NM_001145901.1	NP_001139373.1:p.(Glu46Lys)	NC_000019.9:g.39421241C>T	VUS	1 lab	cb45e20189
20:62560839 DNAJC5 C>T	20	62560839	62560839	C	T	DNAJC5	c.282C>T	NM_025219.2	NP_079495.1:p.(Asn94=)	NC_000020.10:g.62560839C>T	(Likely) benign	1 lab	cb45f8c88a
18:34298521 FHOD3 G>A	18	34298521	34298521	G	A	FHOD3	c.3260G>A	NM_001281740.2	NP_001268669.1:p.(Arg1087His)	NC_000018.9:g.34298521G>A	VUS	1 lab	cb4a50fe93
13:32914244 BRCA2 C>T	13	32914244	32914244	C	T	BRCA2	c.5752C>T	NM_000059.3	NP_000050.2:p.(His1918Tyr)	NC_000013.10:g.32914244C>T	(Likely) benign	1 lab	cb4c6c9e10
X:133981429 PABIR3 A>G	X	133981429	133981429	A	G	PABIR3	c.362A>G	NM_001365748.1	NP_001352677.1:p.(Gln121Arg)	NC_000023.10:g.133981429A>G	(Likely) benign	1 lab	cb4d123b7c
15:78403538 CIB2 A>G	15	78403538	78403538	A	G	CIB2	c.167T>C	NM_006383.3	NP_006374.1:p.(Met56Thr)	NC_000015.9:g.78403538A>G	VUS	1 lab	cb4def758e
19:3770674 RAX2 C>T	19	3770674	3770674	C	T	RAX2	c.638G>A	NM_001319074.1	NP_001306003.1:p.(Arg213Gln)	NC_000019.9:g.3770674C>T	VUS	1 lab	cb4f008fe2
1:152281616 FLG A>G	1	152281616	152281616	A	G	FLG	c.5746T>C	NM_002016.1	NP_002007.1:p.(Ser1916Pro)	NC_000001.10:g.152281616A>G	VUS	1 lab	cb4faa8e7f
7:48259072 ABCA13 AGACTTTGGGTAG>A	7	48259072	48259084	AGACTTTGGGTAG	A	ABCA13	c.410_421del	NM_152701.5	NP_689914.3:p.(Arg137_Glu141delinsLys)	NC_000007.13:g.48259073_48259084del	(Likely) benign	1 lab	cb4fbd7cfa
19:15655018 CYP4F22 C>T	19	15655018	15655018	C	T	CYP4F22	c.1064C>T	NM_173483.3	NP_775754.2:p.(Pro355Leu)	NC_000019.9:g.15655018C>T	VUS	1 lab	cb51084e9c
X:54784822 ITIH6 C>T	X	54784822	54784822	C	T	ITIH6	c.1685G>A	NM_198510.2	NP_940912.1:p.(Arg562His)	NC_000023.10:g.54784822C>T	(Likely) benign	1 lab	cb52619b9d
1:152279705 FLG G>A	1	152279705	152279705	G	A	FLG	c.7657C>T	NM_002016.1	NP_002007.1:p.(Gln2553Ter)	NC_000001.10:g.152279705G>A	(Likely) pathogenic	1 lab	cb546e5b7b
4:113568547 LARP7 ACAGAGTTGAAG>A	4	113568547	113568560	ACAGAGTTGAAG	A	LARP7	c.842_852del	NM_016648.4	NP_057732.2:p.(Arg281IlefsTer2)	NC_000004.11:g.113568550_113568560del	VUS	1 lab	cb5475c696
20:3888598 PANK2 C>T	20	3888598	3888598	C	T	PANK2	c.654C>T	NM_153638.2	NP_705902.2:p.(Ile218=)	NC_000020.10:g.3888598C>T	(Likely) benign	1 lab	cb551c3d6e
X:114881903 PLS3 T>C	X	114881903	114881903	T	C	PLS3	c.1506T>C	NM_001282337.1	NP_001269266.1:p.(Asp502=)	NC_000023.10:g.114881903T>C	(Likely) benign	1 lab	cb551daf88
12:56994266 BAZ2A T>C	12	56994266	56994266	T	C	BAZ2A	c.4611A>G	NM_001300905.1	NP_001287834.1:p.(Thr1537=)	NC_000012.11:g.56994266T>C	(Likely) benign	1 lab	cb55f4ef19
17:48692834 CACNA1G C>T	17	48692834	48692834	C	T	CACNA1G	c.4872C>T	NM_018896.4	NP_061496.2:p.(Asn1624=)	NC_000017.10:g.48692834C>T	(Likely) benign	1 lab	cb58d05aad
X:153175750 ARHGAP4 C>T	X	153175750	153175750	C	T	ARHGAP4	c.2151G>A	NM_001164741.1	NP_001158213.1:p.(Gln717=)	NC_000023.10:g.153175750C>T	(Likely) benign	1 lab	cb5e65fa84
16:347829 AXIN1 C>T	16	347829	347829	C	T	AXIN1	c.1677G>A	NM_003502.3	NP_003493.1:p.(Gln559=)	NC_000016.9:g.347829C>T	(Likely) benign	1 lab	cb6080b53d
15:23891270 MAGEL2 C>T	15	23891270	23891270	C	T	MAGEL2	c.1620G>A	NM_019066.4	NP_061939.3:p.(Pro540=)	NC_000015.9:g.23891270C>T	(Likely) benign	1 lab	cb636852b2
1:228558959 OBSCN G>A	1	228558959	228558959	G	A	OBSCN	c.23351G>A	NM_001271223.2	NP_001258152.2:p.(Arg7784Gln)	NC_000001.10:g.228558959G>A	(Likely) benign	1 lab	cb66a5fa9b
22:30064370 NF2 A>T	22	30064370	30064370	A	T	NF2	c.934A>T	NM_000268.3	NP_000259.1:p.(Lys312Ter)	NC_000022.10:g.30064370A>T	(Likely) pathogenic	1 lab	cb675625da
9:2645719 VLDLR C>T	9	2645719	2645719	C	T	VLDLR	c.1458C>T	NM_003383.4	NP_003374.3:p.(Ala486=)	NC_000009.11:g.2645719C>T	(Likely) benign	1 lab	cb678d0077
20:47558496 ARFGEF2 TA>T	20	47558496	47558497	TA	T	ARFGEF2	c.249del	NM_006420.3	NP_006411.2:p.(Val84SerfsTer31)	NC_000020.10:g.47558497del	(Likely) pathogenic	1 lab	cb685eef2a
6:31918986 CFB A>T	6	31918986	31918986	A	T	CFB	c.1921A>T	NM_001710.5	NP_001701.2:p.(Thr641Ser)	NC_000006.11:g.31918986A>T	(Likely) benign	1 lab	cb6e17ee21
15:81558093 IL16 A>G	15	81558093	81558093	A	G	IL16	c.515A>G	NM_001172128.1	NP_001165599.1:p.(Asn172Ser)	NC_000015.9:g.81558093A>G	(Likely) benign	1 lab	cb6e1e933e
8:140714949 KCNK9 T>C	8	140714949	140714949	T	C	KCNK9	c.283+4A>G	NM_001282534.1	NP_001269463.1:p.?	NC_000008.10:g.140714949T>C	VUS	1 lab	cb6e432fa8
1:103428308 COL11A1 G>A	1	103428308	103428308	G	A	COL11A1	c.2961C>T	NM_080629.2	NP_542196.2:p.(Thr987=)	NC_000001.10:g.103428308G>A	(Likely) benign	1 lab	cb706b6e8f
9:98231106 PTCH1 G>C	9	98231106	98231106	G	C	PTCH1	c.2177C>G	NM_000264.3	NP_000255.2:p.(Pro726Arg)	NC_000009.11:g.98231106G>C	(Likely) benign	1 lab	cb70a1c9f5
4:13476012 RAB28 AG>A	4	13476012	13476015	AG	A	RAB28	c.190del	NM_001017979.3	NP_001017979.1:p.(Leu64PhefsTer6)	NC_000004.11:g.13476015del	(Likely) pathogenic	1 lab	cb70b8ce17
19:1487610 PCSK4 C>T	19	1487610	1487610	C	T	PCSK4	c.674G>A	NM_017573.4	NP_060043.2:p.(Arg225Gln)	NC_000019.9:g.1487610C>T	(Likely) benign	1 lab	cb7150ff76
2:179642474 TTN C>A	2	179642474	179642474	C	A	TTN	c.4437G>T	NM_001267550.1	NP_001254479.1:p.(Lys1479Asn)	NC_000002.11:g.179642474C>A	VUS	1 lab	cb742fafe3
5:137515393 KIF20A G>C	5	137515393	137515393	G	C	KIF20A	c.24G>C	NM_005733.3	NP_005724.1:p.(Pro8=)	NC_000005.9:g.137515393G>C	(Likely) benign	1 lab	cb74573c61
10:37508089 ANKRD30A TA>T	10	37508089	37508093	TA	T	ANKRD30A	c.3453del	NM_052997.3	NP_443723.3:p.(Lys1151AsnfsTer2)	NC_000010.10:g.37508093del	VUS	1 lab	cb74861091
14:60212821 RTN1 T>G	14	60212821	60212821	T	G	RTN1	c.620A>C	NM_021136.2	NP_066959.1:p.(His207Pro)	NC_000014.8:g.60212821T>G	(Likely) benign	1 lab	cb76ad0e94
4:76812805 PPEF2 G>A	4	76812805	76812805	G	A	PPEF2	c.237C>T	NM_006239.3	NP_006230.2:p.(Asn79=)	NC_000004.11:g.76812805G>A	(Likely) benign	1 lab	cb7751ed69
X:19021186 ADGRG2 C>T	X	19021186	19021186	C	T	ADGRG2	c.2008G>A	NM_001079858.2	NP_001073327.1:p.(Ala670Thr)	NC_000023.10:g.19021186C>T	(Likely) benign	1 lab	cb7762747a
5:131924480 RAD50 C>T	5	131924480	131924480	C	T	RAD50	c.1153C>T	NM_005732.3	NP_005723.2:p.(Arg385Cys)	NC_000005.9:g.131924480C>T	VUS	1 lab	cb77a0357c
17:7460102 TNFSF12 C>T	17	7460102	7460102	C	T	TNFSF12	c.381C>T	NM_003809.3	NP_003800.1:p.(Asp127=)	NC_000017.10:g.7460102C>T	(Likely) benign	1 lab	cb78594a7e
4:126239605 FAT4 T>C	4	126239605	126239605	T	C	FAT4	c.2039T>C	NM_001291303.1	NP_001278232.1:p.(Leu680Pro)	NC_000004.11:g.126239605T>C	VUS	1 lab	cb78c18776
4:22436924 ADGRA3 AGAG>A	4	22436924	22436927	AGAG	A	ADGRA3	c.1443+7_1443+9del	NM_145290.4	NP_660333.2:p.?	NC_000004.11:g.22436925_22436927del	(Likely) benign	1 lab	cb7980c893
1:228527763 OBSCN G>C	1	228527763	228527763	G	C	OBSCN	c.20247G>C	NM_001271223.2	NP_001258152.2:p.(Glu6749Asp)	NC_000001.10:g.228527763G>C	VUS	1 lab	cb79811c97
4:1806116 FGFR3 T>A	4	1806116	1806116	T	A	FGFR3	c.1135T>A	NM_000142.4	NP_000133.1:p.(Tyr379Asn)	NC_000004.11:g.1806116T>A	VUS	1 lab	cb79c7280e
X:32867940 DMD G>A	X	32867940	32867940	G	A	DMD	c.-276-3C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32867940G>A	(Likely) benign	1 lab	cb7cdda593
17:29483033 NF1 TACCAA>T	17	29483033	29483039	TACCAA	T	NF1	c.95_99del	NM_001042492.3	NP_001035957.1:p.(Thr32SerfsTer4)	NC_000017.10:g.29483035_29483039del	(Likely) pathogenic	1 lab	cb7d6e9dba
X:37553785 XK C>T	X	37553785	37553785	C	T	XK	c.492C>T	NM_021083.4	NP_066569.1:p.(Asp164=)	NC_000023.10:g.37553785C>T	(Likely) benign	1 lab	cb7f6af238
2:141625262 LRP1B C>T	2	141625262	141625262	C	T	LRP1B	c.4476G>A	NM_018557.2	NP_061027.2:p.(Leu1492=)	NC_000002.11:g.141625262C>T	(Likely) benign	1 lab	cb7fa72082
20:32357992 ZNF341 C>T	20	32357992	32357992	C	T	ZNF341	c.1516C>T	NM_001282933.1	NP_001269862.1:p.(His506Tyr)	NC_000020.10:g.32357992C>T	VUS	1 lab	cb801da0d8
X:48759558 PQBP1 A>G	X	48759558	48759558	A	G	PQBP1	c.341A>G	NM_005710.2	NP_005701.1:p.(His114Arg)	NC_000023.10:g.48759558A>G	(Likely) benign	1 lab	cb8095ef60
2:86317035 POLR1A G>A	2	86317035	86317035	G	A	POLR1A	c.450C>T	NM_015425.5	NP_056240.2:p.(Pro150=)	NC_000002.11:g.86317035G>A	(Likely) benign	1 lab	cb80ff7259
19:4429574 CHAF1A C>T	19	4429574	4429574	C	T	CHAF1A	c.1744C>T	NM_005483.3	NP_005474.2:p.(Arg582Cys)	NC_000019.9:g.4429574C>T	VUS	1 lab	cb82476209
2:135908007 RAB3GAP1 G>A	2	135908007	135908007	G	A	RAB3GAP1	c.1992G>A	NM_001172435.1	NP_001165906.1:p.(Ser664=)	NC_000002.11:g.135908007G>A	(Likely) benign	1 lab	cb82ddc738
1:19432258 UBR4 G>A	1	19432258	19432258	G	A	UBR4	c.12472C>T	NM_020765.2	NP_065816.2:p.(Arg4158Cys)	NC_000001.10:g.19432258G>A	VUS	1 lab	cb838d9c78
9:79999547 VPS13A GTGATGATGATGA>G	9	79999547	79999580	GTGATGATGATGA	G	VPS13A	c.9189+2566_9189+2577del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79999569_79999580del	(Likely) benign	1 lab	cb83e15c16
X:66937370 AR T>C	X	66937370	66937370	T	C	AR	c.2224T>C	NM_000044.4	NP_000035.2:p.(Trp742Arg)	NC_000023.10:g.66937370T>C	(Likely) pathogenic	1 lab	cb84619995
X:48121247 SSX1 G>A	X	48121247	48121247	G	A	SSX1	c.327G>A	NM_001278691.1	NP_001265620.1:p.(Pro109=)	NC_000023.10:g.48121247G>A	(Likely) benign	1 lab	cb84ffb738
9:139265098 CARD9 C>T	9	139265098	139265098	C	T	CARD9	c.683G>A	NM_052813.4	NP_434700.2:p.(Arg228His)	NC_000009.11:g.139265098C>T	VUS	1 lab	cb85c632e7
13:78492461 EDNRB C>T	13	78492461	78492461	C	T	EDNRB	c.518G>A	NM_001201397.1	NP_001188326.1:p.(Arg173His)	NC_000013.10:g.78492461C>T	(Likely) benign	1 lab	cb877bc6aa
3:179132770 GNB4 A>G	3	179132770	179132770	A	G	GNB4	c.333T>C	NM_021629.3	NP_067642.1:p.(Tyr111=)	NC_000003.11:g.179132770A>G	(Likely) benign	1 lab	cb88e7b8dd
X:57619164 ZXDB C>G	X	57619164	57619164	C	G	ZXDB	c.683C>G	NM_007157.3	NP_009088.1:p.(Pro228Arg)	NC_000023.10:g.57619164C>G	(Likely) benign	1 lab	cb895c6410
3:38936340 SCN11A C>T	3	38936340	38936340	C	T	SCN11A	c.2519G>A	NM_014139.2	NP_054858.2:p.(Arg840His)	NC_000003.11:g.38936340C>T	(Likely) benign	1 lab	cb8a02b81c
19:16593245 CALR3 G>A	19	16593245	16593245	G	A	CALR3	c.918+16C>T	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16593245G>A	(Likely) benign	1 lab	cb8a89aade
7:122056213 CADPS2 T>C	7	122056213	122056213	T	C	CADPS2	c.2503A>G	NM_001167940.1	NP_001161412.1:p.(Met835Val)	NC_000007.13:g.122056213T>C	(Likely) benign	1 lab	cb8b5209fb
10:76360175 ADK C>T	10	76360175	76360175	C	T	ADK	c.750C>T	NM_001123.3	NP_001114.2:p.(Ala250=)	NC_000010.10:g.76360175C>T	(Likely) benign	1 lab	cb8b5569a7
2:179500758 TTN G>A	2	179500758	179500758	G	A	TTN	c.41540C>T	NM_001267550.1	NP_001254479.1:p.(Ala13847Val)	NC_000002.11:g.179500758G>A	VUS	1 lab	cb8d78f4dd
17:76803222 USP36 G>A	17	76803222	76803222	G	A	USP36	c.1904C>T	NM_001321291.1	NP_001308220.1:p.(Ala635Val)	NC_000017.10:g.76803222G>A	(Likely) benign	1 lab	cb8ff925e4
2:1926166 MYT1L T>A	2	1926166	1926166	T	A	MYT1L	c.1375A>T	NM_001329851.1	NP_001316780.1:p.(Arg459Trp)	NC_000002.11:g.1926166T>A	VUS	1 lab	cb912b4587
9:100234725 TDRD7 A>G	9	100234725	100234725	A	G	TDRD7	c.1892A>G	NM_014290.2	NP_055105.2:p.(Asn631Ser)	NC_000009.11:g.100234725A>G	VUS	1 lab	cb913a241c
1:12888500 PRAMEF11 G>A	1	12888500	12888500	G	A	PRAMEF11	c.150C>T	NM_001146344.2	NP_001139816.2:p.(Arg50=)	NC_000001.10:g.12888500G>A	(Likely) benign	1 lab	cb94268056
22:20024525 TANGO2 C>T	22	20024525	20024525	C	T	TANGO2	c.87C>T	NM_001322141.1	NP_001309070.1:p.(His29=)	NC_000022.10:g.20024525C>T	(Likely) benign	1 lab	cb949f86f6
2:233708793 GIGYF2 A>G	2	233708793	233708793	A	G	GIGYF2	c.2927A>G	NM_015575.3	NP_056390.2:p.(Gln976Arg)	NC_000002.11:g.233708793A>G	(Likely) benign	1 lab	cb94b98f40
22:45221366 PRR5-ARHGAP8 C>T	22	45221366	45221366	C	T	PRR5-ARHGAP8	c.882C>T	NM_181334.5	NP_851851.3:p.(Tyr294=)	NC_000022.10:g.45221366C>T	(Likely) benign	1 lab	cb994e16f9
6:26598347 ABT1 A>T	6	26598347	26598347	A	T	ABT1	c.438+9A>T	NM_013375.4	NP_037507.1:p.?	NC_000006.11:g.26598347A>T	(Likely) benign	1 lab	cb9b3e4189
20:25304068 ABHD12 T>C	20	25304068	25304068	T	C	ABHD12	c.317-2A>G	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25304068T>C	(Likely) pathogenic	1 lab	cb9b5f0472
X:110987953 ALG13 TACCACCACCACCACCACC>T	X	110987953	110987998	TACCACCACCACCACCACC	T	ALG13	c.2781_2798del	NM_001099922.3	NP_001093392.1:p.(Pro940_Pro945del)	NC_000023.10:g.110987981_110987998del	(Likely) benign	1 lab	cb9ca567ec
15:91292892 BLM C>T	15	91292892	91292892	C	T	BLM	c.394C>T	NM_001287246.1	NP_001274175.1:p.(Arg132Trp)	NC_000015.9:g.91292892C>T	VUS	1 lab	cb9cce48af
X:138619311 F9 T>G	X	138619311	138619311	T	G	F9	c.231T>G	NM_000133.3	NP_000124.1:p.(Val77=)	NC_000023.10:g.138619311T>G	(Likely) benign	1 lab	cb9d3ba857
12:1988975 CACNA2D4 C>T	12	1988975	1988975	C	T	CACNA2D4	c.1558G>A	NM_172364.4	NP_758952.4:p.(Glu520Lys)	NC_000012.11:g.1988975C>T	VUS	1 lab	cb9d7b1889
8:10480315 RP1L1 C>T	8	10480315	10480315	C	T	RP1L1	c.397G>A	NM_178857.5	NP_849188.4:p.(Glu133Lys)	NC_000008.10:g.10480315C>T	VUS	1 lab	cb9f39b259
9:34372615 MYORG C>T	9	34372615	34372615	C	T	MYORG	c.327G>A	NM_020702.5	NP_065753.2:p.(Gln109=)	NC_000009.11:g.34372615C>T	(Likely) benign	1 lab	cba1d1ad44
1:155207294 GBA1 C>A	1	155207294	155207294	C	A	GBA1	c.837G>T	NM_001005741.2	NP_001005741.1:p.(Leu279=)	NC_000001.10:g.155207294C>A	(Likely) benign	1 lab	cba2b52c21
22:37628842 RAC2 G>A	22	37628842	37628842	G	A	RAC2	c.224C>T	NM_002872.3	NP_002863.1:p.(Thr75Met)	NC_000022.10:g.37628842G>A	VUS	1 lab	cba3bc395e
7:73450880 ELN C>T	7	73450880	73450880	C	T	ELN	c.134-5C>T	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73450880C>T	(Likely) benign	1 lab	cba3e6af4a
8:72123442 EYA1 C>T	8	72123442	72123442	C	T	EYA1	c.1647G>A	NM_000503.5	NP_000494.2:p.(Val549=)	NC_000008.10:g.72123442C>T	(Likely) benign	1 lab	cba49dc705
17:56296609 MKS1 G>C	17	56296609	56296609	G	C	MKS1	c.-18C>G	NM_017777.3	NP_060247.2:p.?	NC_000017.10:g.56296609G>C	(Likely) benign	1 lab	cba4ace14c
2:179501096 TTN T>C	2	179501096	179501096	T	C	TTN	c.41329+29A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179501096T>C	(Likely) benign	1 lab	cba5a529d2
11:121028766 TECTA A>G	11	121028766	121028766	A	G	TECTA	c.4522A>G	NM_005422.2	NP_005413.2:p.(Asn1508Asp)	NC_000011.9:g.121028766A>G	VUS	1 lab	cba5c005e8
19:38655449 SIPA1L3 G>A	19	38655449	38655449	G	A	SIPA1L3	c.4111G>A	NM_015073.2	NP_055888.1:p.(Gly1371Ser)	NC_000019.9:g.38655449G>A	(Likely) benign	1 lab	cba5fc0535
6:32805566 TAP2 G>C	6	32805566	32805566	G	C	TAP2	c.445C>G	NM_001290043.1	NP_001276972.1:p.(Leu149Val)	NC_000006.11:g.32805566G>C	VUS	1 lab	cba82cd0c4
16:15811215 MYH11 A>G	16	15811215	15811215	A	G	MYH11	c.5317-10T>C	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15811215A>G	(Likely) benign	1 lab	cbab0d1b9e
X:111914250 LHFPL1 C>T	X	111914250	111914250	C	T	LHFPL1	c.369G>A	NM_178175.3	NP_835469.1:p.(Ala123=)	NC_000023.10:g.111914250C>T	(Likely) benign	1 lab	cbad34ae1f
11:1018481 MUC6 C>G	11	1018481	1018481	C	G	MUC6	c.4320G>C	NM_005961.2	NP_005952.2:p.(Glu1440Asp)	NC_000011.9:g.1018481C>G	(Likely) benign	1 lab	cbade74922
2:152548862 NEB T>A	2	152548862	152548862	T	A	NEB	c.1911A>T	NM_001271208.1	NP_001258137.1:p.(Glu637Asp)	NC_000002.11:g.152548862T>A	VUS	1 lab	cbb16e96fa
X:100105207 NOX1 G>A	X	100105207	100105207	G	A	NOX1	c.1066C>T	NM_007052.4	NP_008983.2:p.(Arg356Ter)	NC_000023.10:g.100105207G>A	(Likely) benign	1 lab	cbb1ce5534
10:14950432 DCLRE1C CTTTT>C	10	14950432	14950439	CTTTT	C	DCLRE1C	c.2050_2053del	NM_001033855.3	NP_001029027.1:p.(Lys684GlufsTer6)	NC_000010.10:g.14950436_14950439del	(Likely) pathogenic	1 lab	cbb26de2e0
7:21611591 DNAH11 G>T	7	21611591	21611591	G	T	DNAH11				NC_000007.13:g.21611591G>T	VUS	1 lab	cbb2734c58
22:29115359 CHEK2 C>T	22	29115359	29115359	C	T	CHEK2	c.683+24G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115359C>T	(Likely) benign	1 lab	cbb375c54c
7:151962128 KMT2C G>A	7	151962128	151962128	G	A	KMT2C	c.1179C>T	NM_170606.2	NP_733751.2:p.(Asn393=)	NC_000007.13:g.151962128G>A	(Likely) benign	1 lab	cbb4b24e17
X:84362491 SATL1 T>A	X	84362491	84362491	T	A	SATL1	c.1484A>T	NM_001012980.2	NP_001012998.2:p.(Asp495Val)	NC_000023.10:g.84362491T>A	(Likely) benign	1 lab	cbb7880892
9:140611518 EHMT1 C>T	9	140611518	140611518	C	T	EHMT1	c.526C>T	NM_024757.4	NP_079033.4:p.(Pro176Ser)	NC_000009.11:g.140611518C>T	(Likely) benign	1 lab	cbb8f23062
11:36614810 RAG2 C>A	11	36614810	36614810	C	A	RAG2	c.909G>T	NM_001243786.1	NP_001230715.1:p.(Glu303Asp)	NC_000011.9:g.36614810C>A	VUS	1 lab	cbbbf61635
X:53576158 HUWE1 T>C	X	53576158	53576158	T	C	HUWE1	c.9797A>G	NM_031407.6	NP_113584.3:p.(Asn3266Ser)	NC_000023.10:g.53576158T>C	(Likely) benign	1 lab	cbbc287a5e
5:37169322 CPLANE1 T>C	5	37169322	37169322	T	C	CPLANE1	c.6804A>G	NM_023073.3	NP_075561.3:p.(Gln2268=)	NC_000005.9:g.37169322T>C	VUS	1 lab	cbbd3854cb
1:204162050 KISS1 A>G	1	204162050	204162050	A	G	KISS1	c.-38-8T>C	NM_002256.3	NP_002247.3:p.?	NC_000001.10:g.204162050A>G	VUS	1 lab	cbc05ea1e3
9:139391812 NOTCH1 C>T	9	139391812	139391812	C	T	NOTCH1	c.6379G>A	NM_017617.5	NP_060087.3:p.(Ala2127Thr)	NC_000009.11:g.139391812C>T	(Likely) benign	1 lab	cbc0ad57d7
8:86389495 CA2 C>G	8	86389495	86389495	C	G	CA2	c.654C>G	NM_000067.2	NP_000058.1:p.(Ser218Arg)	NC_000008.10:g.86389495C>G	VUS	1 lab	cbc1447689
21:47783512 PCNT G>A	21	47783512	47783512	G	A	PCNT	c.2272G>A	NM_006031.5	NP_006022.3:p.(Glu758Lys)	NC_000021.8:g.47783512G>A	(Likely) benign	1 lab	cbc1eb64bc
8:55540579 RP1 A>T	8	55540579	55540579	A	T	RP1	c.4137A>T	NM_006269.1	NP_006260.1:p.(Glu1379Asp)	NC_000008.10:g.55540579A>T	VUS	1 lab	cbc20832b1
15:76673928 SCAPER G>C	15	76673928	76673928	G	C	SCAPER	c.3514C>G	NM_001353009.1	NP_001339938.1:p.(Gln1172Glu)	NC_000015.9:g.76673928G>C	VUS	1 lab	cbc2214dfc
3:123457889 MYLK G>A	3	123457889	123457889	G	A	MYLK	c.443C>T	NM_053025.3	NP_444253.3:p.(Ala148Val)	NC_000003.11:g.123457889G>A	(Likely) benign	1 lab	cbc300ace0
17:46002401 SP2 G>A	17	46002401	46002401	G	A	SP2	c.1489G>A	NM_003110.6	NP_003101.3:p.(Gly497Arg)	NC_000017.10:g.46002401G>A	VUS	1 lab	cbc364a62d
20:25371205 ABHD12 C>T	20	25371205	25371205	C	T	ABHD12	c.135G>A	NM_001042472.3	NP_001035937.1:p.(Pro45=)	NC_000020.10:g.25371205C>T	(Likely) benign	1 lab	cbc3ab165c
9:2644981 VLDLR G>T	9	2644981	2644981	G	T	VLDLR	c.1211G>T	NM_003383.4	NP_003374.3:p.(Gly404Val)	NC_000009.11:g.2644981G>T	VUS	1 lab	cbc6339893
X:135405454 ADGRG4 G>C	X	135405454	135405454	G	C	ADGRG4	c.588G>C	NM_153834.3	NP_722576.3:p.(Glu196Asp)	NC_000023.10:g.135405454G>C	(Likely) benign	1 lab	cbc7415525
7:142836620 PIP A>G	7	142836620	142836620	A	G	PIP	c.326A>G	NM_002652.3	NP_002643.1:p.(Gln109Arg)	NC_000007.13:g.142836620A>G	(Likely) benign	1 lab	cbc85ebe86
3:38592826 SCN5A G>A	3	38592826	38592826	G	A	SCN5A	c.5037C>T	NM_198056.2	NP_932173.1:p.(Phe1679=)	NC_000003.11:g.38592826G>A	(Likely) benign	1 lab	cbc872ea97
16:30715644 SRCAP T>C	16	30715644	30715644	T	C	SRCAP	c.306+8T>C	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30715644T>C	(Likely) benign	1 lab	cbc92d2edb
3:38287626 OXSR1 C>T	3	38287626	38287626	C	T	OXSR1	c.1171C>T	NM_005109.3	NP_005100.1:p.(His391Tyr)	NC_000003.11:g.38287626C>T	(Likely) benign	1 lab	cbcbf727de
8:10470117 RP1L1 C>G	8	10470117	10470117	C	G	RP1L1	c.1491G>C	NM_178857.5	NP_849188.4:p.(Gly497=)	NC_000008.10:g.10470117C>G	(Likely) benign	1 lab	cbccc6ef29
2:191862732 STAT1 T>C	2	191862732	191862732	T	C	STAT1	c.635A>G	NM_007315.3	NP_009330.1:p.(Glu212Gly)	NC_000002.11:g.191862732T>C	VUS	1 lab	cbcd230eb2
5:109117152 MAN2A1 C>T	5	109117152	109117152	C	T	MAN2A1	c.1430C>T	NM_002372.3	NP_002363.2:p.(Thr477Ile)	NC_000005.9:g.109117152C>T	(Likely) benign	1 lab	cbcd8d534f
3:184049766 EIF4G1 C>T	3	184049766	184049766	C	T	EIF4G1	c.4513C>T	NM_182917.4	NP_886553.3:p.(Leu1505=)	NC_000003.11:g.184049766C>T	(Likely) benign	1 lab	cbcd929b5a
1:98386474 DPYD G>A	1	98386474	98386474	G	A	DPYD	c.5C>T	NM_000110.3	NP_000101.2:p.(Ala2Val)	NC_000001.10:g.98386474G>A	(Likely) benign	1 lab	cbcf05c42e
7:151836812 KMT2C G>C	7	151836812	151836812	G	C	KMT2C	c.14408C>G	NM_170606.2	NP_733751.2:p.(Thr4803Ser)	NC_000007.13:g.151836812G>C	(Likely) benign	1 lab	cbd0a634dc
10:101996733 CWF19L1 G>T	10	101996733	101996733	G	T	CWF19L1	c.844-7C>A	NM_001303405.1	NP_001290334.1:p.?	NC_000010.10:g.101996733G>T	(Likely) benign	1 lab	cbd134cf1d
X:103043394 PLP1 C>T	X	103043394	103043394	C	T	PLP1	c.651C>T	NM_001128834.2	NP_001122306.1:p.(Gly217=)	NC_000023.10:g.103043394C>T	(Likely) benign	1 lab	cbd2ee733a
12:124228404 ATP6V0A2 C>T	12	124228404	124228404	C	T	ATP6V0A2	c.1111C>T	NM_012463.3	NP_036595.2:p.(Arg371Cys)	NC_000012.11:g.124228404C>T	VUS	1 lab	cbd4017f3c
3:195794452 TFRC G>A	3	195794452	195794452	G	A	TFRC	c.977C>T	NM_003234.3	NP_003225.2:p.(Ser326Leu)	NC_000003.11:g.195794452G>A	VUS	1 lab	cbd723d4da
2:88890107 EIF2AK3 G>A	2	88890107	88890107	G	A	EIF2AK3	c.1019C>T	NM_004836.6	NP_004827.4:p.(Ala340Val)	NC_000002.11:g.88890107G>A	VUS	1 lab	cbd72a5aa2
17:29665158 NF1 G>T	17	29665158	29665158	G	T	NF1	c.6756+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665158G>T	(Likely) pathogenic	1 lab	cbd7b19d79
7:47947697 PKD1L1 G>A	7	47947697	47947697	G	A	PKD1L1	c.1379C>T	NM_138295.4	NP_612152.1:p.(Ala460Val)	NC_000007.13:g.47947697G>A	(Likely) benign	1 lab	cbdbd534e2
2:113820092 IL36RN G>A	2	113820092	113820092	G	A	IL36RN	c.306G>A	NM_012275.2	NP_036407.1:p.(Arg102=)	NC_000002.11:g.113820092G>A	(Likely) benign	1 lab	cbdc19ce48
2:233322928 ALPI C>T	2	233322928	233322928	C	T	ALPI	c.993C>T	NM_001631.5	NP_001622.2:p.(Gly331=)	NC_000002.11:g.233322928C>T	(Likely) benign	1 lab	cbdc51a7a3
4:79301105 FRAS1 T>G	4	79301105	79301105	T	G	FRAS1	c.3518T>G	NM_025074.7	NP_079350.5:p.(Val1173Gly)	NC_000004.11:g.79301105T>G	VUS	1 lab	cbdeb6967e
10:101648658 DNMBP A>G	10	101648658	101648658	A	G	DNMBP	c.3209T>C	NM_015221.4	NP_056036.1:p.(Met1070Thr)	NC_000010.10:g.101648658A>G	(Likely) benign	1 lab	cbe199c5a4
2:29295843 PCARE C>T	2	29295843	29295843	C	T	PCARE	c.1285G>A	NM_001029883.2	NP_001025054.1:p.(Glu429Lys)	NC_000002.11:g.29295843C>T	VUS	1 lab	cbe20a285d
X:55035693 ALAS2 C>T	X	55035693	55035693	C	T	ALAS2	c.1645G>A	NM_001037968.3	NP_001033057.1:p.(Val549Ile)	NC_000023.10:g.55035693C>T	(Likely) benign	1 lab	cbe3ee7257
16:72830397 ZFHX3 G>C	16	72830397	72830397	G	C	ZFHX3	c.6184C>G	NM_006885.3	NP_008816.3:p.(Pro2062Ala)	NC_000016.9:g.72830397G>C	VUS	1 lab	cbe6233b4d
19:36214870 KMT2B G>A	19	36214870	36214870	G	A	KMT2B	c.3296G>A	NM_014727.2	NP_055542.1:p.(Gly1099Asp)	NC_000019.9:g.36214870G>A	VUS	1 lab	cbe7adc882
8:145625591 CPSF1 G>A	8	145625591	145625591	G	A	CPSF1	c.906C>T	NM_013291.3	NP_037423.2:p.(Ser302=)	NC_000008.10:g.145625591G>A	(Likely) benign	1 lab	cbe8b8c22c
19:12777451 MAN2B1 C>T	19	12777451	12777451	C	T	MAN2B1	c.65G>A	NM_000528.3	NP_000519.2:p.(Trp22Ter)	NC_000019.9:g.12777451C>T	(Likely) pathogenic	1 lab	cbe901c989
19:40424191 FCGBP T>G	19	40424191	40424191	T	G	FCGBP	c.2012A>C	NM_003890.2	NP_003881.2:p.(Asp671Ala)	NC_000019.9:g.40424191T>G	VUS	1 lab	cbe9a9c76b
19:48337728 CRX C>G	19	48337728	48337728	C	G	CRX	c.28C>G	NM_000554.5	NP_000545.1:p.(His10Asp)	NC_000019.9:g.48337728C>G	(Likely) benign	1 lab	cbea2b5f3f
11:609072 PHRF1 C>A	11	609072	609072	C	A	PHRF1	c.3616C>A	NM_001286581.2	NP_001273510.1:p.(Leu1206Ile)	NC_000011.9:g.609072C>A	(Likely) benign	1 lab	cbea47e019
3:52183917 POC1A C>T	3	52183917	52183917	C	T	POC1A	c.76G>A	NM_001161581.1	NP_001155053.1:p.(Val26Ile)	NC_000003.11:g.52183917C>T	VUS	1 lab	cbebfebf9c
7:87785235 ADAM22 T>C	7	87785235	87785235	T	C	ADAM22	c.1821T>C	NM_001324418.1	NP_001311347.1:p.(Asn607=)	NC_000007.13:g.87785235T>C	(Likely) benign	1 lab	cbed164ebf
7:73472000 ELN A>G	7	73472000	73472000	A	G	ELN	c.1388A>G	NM_000501.3	NP_000492.2:p.(Lys463Arg)	NC_000007.13:g.73472000A>G	(Likely) benign	1 lab	cbed1bd32c
8:48736543 PRKDC A>G	8	48736543	48736543	A	G	PRKDC	c.8798T>C	NM_006904.6	NP_008835.5:p.(Ile2933Thr)	NC_000008.10:g.48736543A>G	VUS	1 lab	cbed2dce98
19:53762026 VN1R2 T>C	19	53762026	53762026	T	C	VN1R2	c.398T>C	NM_173856.2	NP_776255.2:p.(Val133Ala)	NC_000019.9:g.53762026T>C	VUS	1 lab	cbedb1bf23
11:8660279 TRIM66 C>T	11	8660279	8660279	C	T	TRIM66	c.1797G>A	NM_014818.1	NP_055633.1:p.(Ala599=)	NC_000011.9:g.8660279C>T	(Likely) benign	1 lab	cbedbdf611
11:1018527 MUC6 G>A	11	1018527	1018527	G	A	MUC6	c.4274C>T	NM_005961.2	NP_005952.2:p.(Thr1425Ile)	NC_000011.9:g.1018527G>A	(Likely) benign	1 lab	cbedd75741
2:179391978 TTN C>A	2	179391978	179391978	C	A	TTN	c.107737G>T	NM_001267550.1	NP_001254479.1:p.(Val35913Phe)	NC_000002.11:g.179391978C>A	(Likely) benign	1 lab	cbee0828b4
8:95866086 INTS8 AACAA>T	8	95866086	95866090	AACAA	T	INTS8	c.1695_1699delinsT	NM_017864.3	NP_060334.2:p.(Leu565PhefsTer35)	NC_000008.10:g.95866086_95866090delinsT	(Likely) pathogenic	1 lab	cbeef4f4ea
3:153840204 ARHGEF26 G>A	3	153840204	153840204	G	A	ARHGEF26	c.423G>A	NM_001251962.1	NP_001238891.1:p.(Pro141=)	NC_000003.11:g.153840204G>A	(Likely) benign	1 lab	cbef24e10e
6:33756800 LEMD2 G>A	6	33756800	33756800	G	A	LEMD2	c.94C>T	NM_181336.3	NP_851853.1:p.(Arg32Cys)	NC_000006.11:g.33756800G>A	VUS	1 lab	cbef2f8e7a
3:37045963 MLH1 C>A	3	37045963	37045963	C	A	MLH1	c.378C>A	NM_000249.3	NP_000240.1:p.(Tyr126Ter)	NC_000003.11:g.37045963C>A	(Likely) pathogenic	1 lab	cbef79ffaa
22:38121862 TRIOBP C>G	22	38121862	38121862	C	G	TRIOBP	c.3299C>G	NM_001039141.2	NP_001034230.1:p.(Ser1100Cys)	NC_000022.10:g.38121862C>G	VUS	1 lab	cbf09d91c4
11:60233589 MS4A1 C>T	11	60233589	60233589	C	T	MS4A1	c.532C>T	NM_152866.2	NP_690605.1:p.(Pro178Ser)	NC_000011.9:g.60233589C>T	(Likely) benign	1 lab	cbf20249c2
14:32142591 NUBPL G>A	14	32142591	32142591	G	A	NUBPL	c.413G>A	NM_025152.2	NP_079428.2:p.(Gly138Asp)	NC_000014.8:g.32142591G>A	VUS	1 lab	cbf54c77b9
3:52400522 DNAH1 C>T	3	52400522	52400522	C	T	DNAH1	c.5568C>T	NM_015512.4	NP_056327.4:p.(His1856=)	NC_000003.11:g.52400522C>T	(Likely) benign	1 lab	cbf6047fde
X:29973451 IL1RAPL1 G>T	X	29973451	29973451	G	T	IL1RAPL1	c.1605G>T	NM_014271.3	NP_055086.1:p.(Thr535=)	NC_000023.10:g.29973451G>T	(Likely) benign	1 lab	cbf65d863f
4:15504084 CC2D2A G>C	4	15504084	15504084	G	C	CC2D2A	c.280G>C	NM_001080522.2	NP_001073991.2:p.(Gly94Arg)	NC_000004.11:g.15504084G>C	VUS	1 lab	cbf671a2f5
1:39919434 MACF1 T>A	1	39919434	39919434	T	A	MACF1	c.14621T>A	NM_012090.5	NP_036222.3:p.(Met4874Lys)	NC_000001.10:g.39919434T>A	VUS	1 lab	cbf700a047
3:52183873 POC1A G>A	3	52183873	52183873	G	A	POC1A	c.120C>T	NM_001161581.1	NP_001155053.1:p.(Ser40=)	NC_000003.11:g.52183873G>A	(Likely) benign	1 lab	cbf70f053e
2:111408296 BUB1 C>T	2	111408296	111408296	C	T	BUB1	c.2030G>A	NM_004336.4	NP_004327.1:p.(Arg677His)	NC_000002.11:g.111408296C>T	(Likely) benign	1 lab	cbf927087b
1:156142783 SEMA4A T>C	1	156142783	156142783	T	C	SEMA4A	c.1301T>C	NM_022367.4	NP_071762.2:p.(Met434Thr)	NC_000001.10:g.156142783T>C	VUS	1 lab	cbf938b63d
16:2815642 SRRM2 C>T	16	2815642	2815642	C	T	SRRM2	c.5113C>T	NM_016333.4	NP_057417.3:p.(Arg1705Cys)	NC_000016.9:g.2815642C>T	VUS	1 lab	cbfa3adcd6
14:89307850 TTC8 T>C	14	89307850	89307850	T	C	TTC8				NC_000014.8:g.89307850T>C	(Likely) benign	1 lab	cbfbbda253
1:46654595 POMGNT1 C>T	1	46654595	46654595	C	T	POMGNT1	c.2043G>A	NM_001243766.1	NP_001230695.1:p.(Pro681=)	NC_000001.10:g.46654595C>T	(Likely) benign	1 lab	cbfe6d6019
6:42942671 PEX6 G>A	6	42942671	42942671	G	A	PEX6	c.988C>T	NM_000287.3	NP_000278.3:p.(His330Tyr)	NC_000006.11:g.42942671G>A	(Likely) benign	1 lab	cbfe875a7e
17:73601972 MYO15B C>T	17	73601972	73601972	C	T	MYO15B	c.4048C>T	NM_001309242.1	NP_001296171.1:p.(Arg1350Trp)	NC_000017.10:g.73601972C>T	(Likely) benign	1 lab	cc00a12317
7:82581910 PCLO G>A	7	82581910	82581910	G	A	PCLO	c.8359C>T	NM_033026.5	NP_149015.2:p.(Pro2787Ser)	NC_000007.13:g.82581910G>A	(Likely) benign	1 lab	cc03a02c89
X:23397814 PTCHD1 T>C	X	23397814	23397814	T	C	PTCHD1	c.458T>C	NM_173495.2	NP_775766.2:p.(Ile153Thr)	NC_000023.10:g.23397814T>C	VUS	1 lab	cc04068ee1
1:85666474 SYDE2 G>A	1	85666474	85666474	G	A	SYDE2	c.206C>T	NM_032184.2	NP_115560.1:p.(Pro69Leu)	NC_000001.10:g.85666474G>A	(Likely) benign	1 lab	cc05198975
12:14018819 GRIN2B G>A	12	14018819	14018819	G	A	GRIN2B	c.324C>T	NM_000834.4	NP_000825.2:p.(Ile108=)	NC_000012.11:g.14018819G>A	(Likely) benign	1 lab	cc05d268eb
16:89346627 ANKRD11 C>T	16	89346627	89346627	C	T	ANKRD11	c.6323G>A	NM_001256182.1	NP_001243111.1:p.(Gly2108Asp)	NC_000016.9:g.89346627C>T	(Likely) benign	1 lab	cc06fff04d
7:66098420 KCTD7 C>T	7	66098420	66098420	C	T	KCTD7	c.303C>T	NM_153033.4	NP_694578.1:p.(Gly101=)	NC_000007.13:g.66098420C>T	(Likely) benign	1 lab	cc077e4f7c
6:152570334 SYNE1 C>A	6	152570334	152570334	C	A	SYNE1	c.19534G>T	NM_182961.3	NP_892006.3:p.(Ala6512Ser)	NC_000006.11:g.152570334C>A	VUS	1 lab	cc08211d64
4:36163126 ARAP2 T>C	4	36163126	36163126	T	C	ARAP2	c.2220A>G	NM_015230.4	NP_056045.2:p.(Leu740=)	NC_000004.11:g.36163126T>C	(Likely) benign	1 lab	cc09647418
7:100229824 TFR2 G>C	7	100229824	100229824	G	C	TFR2	c.850-3C>G	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100229824G>C	VUS	1 lab	cc0a618991
6:152647767 SYNE1 G>A	6	152647767	152647767	G	A	SYNE1	c.14957C>T	NM_182961.3	NP_892006.3:p.(Ala4986Val)	NC_000006.11:g.152647767G>A	(Likely) benign	1 lab	cc0b8e1e98
19:54652390 CNOT3 G>A	19	54652390	54652390	G	A	CNOT3	c.1318G>A	NM_014516.4	NP_055331.1:p.(Val440Met)	NC_000019.9:g.54652390G>A	VUS	1 lab	cc0d03b4ce
5:68805386 OCLN G>A	5	68805386	68805386	G	A	OCLN	c.469G>A	NM_002538.3	NP_002529.1:p.(Val157Ile)	NC_000005.9:g.68805386G>A	(Likely) benign	1 lab	cc0fd0833e
1:16057123 PLEKHM2 G>A	1	16057123	16057123	G	A	PLEKHM2	c.2305G>A	NM_015164.3	NP_055979.2:p.(Glu769Lys)	NC_000001.10:g.16057123G>A	VUS	1 lab	cc145a0ead
X:18668629 CDKL5 T>C	X	18668629	18668629	T	C	CDKL5	c.2897T>C	NM_003159.2	NP_003150.1:p.(Val966Ala)	NC_000023.10:g.18668629T>C	VUS	1 lab	cc149e0b18
11:17627562 OTOG G>A	11	17627562	17627562	G	A	OTOG	c.4072G>A	NM_001277269.1	NP_001264198.1:p.(Val1358Met)	NC_000011.9:g.17627562G>A	(Likely) benign	1 lab	cc14a50ebb
10:124787232 ACADSB C>T	10	124787232	124787232	C	T	ACADSB	c.43-6640C>T	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124787232C>T	(Likely) benign	1 lab	cc155b8f5d
1:7723406 CAMTA1 TC>T	1	7723406	7723408	TC	T	CAMTA1	c.806-5del	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7723408del	(Likely) benign	1 lab	cc16b414fc
11:6640044 TPP1 CAGCTCCGAGAGTCTT>C	11	6640044	6640059	CAGCTCCGAGAGTCTT	C	TPP1	c.177_191del	NM_000391.4	NP_000382.3:p.(Arg60_Leu64del)	NC_000011.9:g.6640045_6640059del	VUS	1 lab	cc16c82e81
5:131630648 SLC22A4 C>T	5	131630648	131630648	C	T	SLC22A4	c.339C>T	NM_003059.3	NP_003050.2:p.(Cys113=)	NC_000005.9:g.131630648C>T	(Likely) benign	1 lab	cc17831552
X:153698834 PLXNA3 C>T	X	153698834	153698834	C	T	PLXNA3	c.5036C>T	NM_017514.4	NP_059984.3:p.(Thr1679Ile)	NC_000023.10:g.153698834C>T	VUS	1 lab	cc184c1747
7:107340560 SLC26A4 A>AT	7	107340560	107340564	A	AT	SLC26A4	c.1651dup	NM_000441.1	NP_000432.1:p.(Ser551PhefsTer13)	NC_000007.13:g.107340564dup	(Likely) pathogenic	1 lab	cc19480570
X:13651130 EGFL6 G>A	X	13651130	13651130	G	A	EGFL6	c.1581G>A	NM_001167890.1	NP_001161362.1:p.(Lys527=)	NC_000023.10:g.13651130G>A	(Likely) benign	1 lab	cc1993c7fd
9:131095759 COQ4 G>C	9	131095759	131095759	G	C	COQ4	c.633G>C	NM_016035.4	NP_057119.2:p.(Leu211=)	NC_000009.11:g.131095759G>C	(Likely) benign	1 lab	cc1ac91ff6
10:73269920 CDH23 G>A	10	73269920	73269920	G	A	CDH23	c.227G>A	NM_022124.5	NP_071407.4:p.(Arg76His)	NC_000010.10:g.73269920G>A	VUS	1 lab	cc1d62e886
5:127595290 FBN2 C>T	5	127595290	127595290	C	T	FBN2	c.8596G>A	NM_001999.3	NP_001990.2:p.(Gly2866Ser)	NC_000005.9:g.127595290C>T	VUS	1 lab	cc1e24e904
4:123868514 AFG2A C>T	4	123868514	123868514	C	T	AFG2A	c.1585C>T	NM_145207.2	NP_660208.2:p.(Arg529Trp)	NC_000004.11:g.123868514C>T	VUS	1 lab	cc1f3541ba
X:129267348 AIFM1 C>A	X	129267348	129267348	C	A	AIFM1	c.1388G>T	NM_004208.3	NP_004199.1:p.(Arg463Ile)	NC_000023.10:g.129267348C>A	VUS	1 lab	cc2117f811
6:26197415 H3C4 C>A	6	26197415	26197415	C	A	H3C4	c.64G>T	NM_003530.4	NP_003521.2:p.(Ala22Ser)	NC_000006.11:g.26197415C>A	VUS	1 lab	cc224c223e
4:1206072 CTBP1 C>T	4	1206072	1206072	C	T	CTBP1	c.1246G>A	NM_001012614.1	NP_001012632.1:p.(Val416Ile)	NC_000004.11:g.1206072C>T	(Likely) benign	1 lab	cc23ae4ec6
1:57002775 PLPP3 G>C	1	57002775	57002775	G	C	PLPP3	c.149C>G	NM_003713.5	NP_003704.3:p.(Pro50Arg)	NC_000001.10:g.57002775G>C	VUS	1 lab	cc23b1fe72
14:91739669 CCDC88C C>A	14	91739669	91739669	C	A	CCDC88C	c.5387G>T	NM_001080414.3	NP_001073883.2:p.(Ser1796Ile)	NC_000014.8:g.91739669C>A	(Likely) benign	1 lab	cc243ef4cd
16:72130838 DHX38 G>A	16	72130838	72130838	G	A	DHX38	c.441G>A	NM_014003.3	NP_054722.2:p.(Ser147=)	NC_000016.9:g.72130838G>A	(Likely) benign	1 lab	cc269e8b10
6:152660423 SYNE1 C>T	6	152660423	152660423	C	T	SYNE1	c.12304G>A	NM_182961.3	NP_892006.3:p.(Ala4102Thr)	NC_000006.11:g.152660423C>T	(Likely) benign	1 lab	cc27a5875f
X:70330510 IL2RG G>A	X	70330510	70330510	G	A	IL2RG	c.298C>T	NM_000206.2	NP_000197.1:p.(Gln100Ter)	NC_000023.10:g.70330510G>A	(Likely) pathogenic	1 lab	cc28129846
16:89259885 CDH15 C>G	16	89259885	89259885	C	G	CDH15	c.1863C>G	NM_004933.2	NP_004924.1:p.(Val621=)	NC_000016.9:g.89259885C>G	(Likely) benign	1 lab	cc287348ae
1:41289900 KCNQ4 C>T	1	41289900	41289900	C	T	KCNQ4	c.1262C>T	NM_004700.3	NP_004691.2:p.(Pro421Leu)	NC_000001.10:g.41289900C>T	VUS	1 lab	cc2a12082d
5:138857109 STING1 G>T	5	138857109	138857109	G	T	STING1	c.760-9C>A	NM_198282.4	NP_938023.1:p.?	NC_000005.9:g.138857109G>T	(Likely) benign	1 lab	cc2a857b00
X:123022529 XIAP G>T	X	123022529	123022529	G	T	XIAP	c.938G>T	NM_001167.3	NP_001158.2:p.(Ser313Ile)	NC_000023.10:g.123022529G>T	VUS	1 lab	cc2b007f2d
7:21904237 DNAH11 G>A	7	21904237	21904237	G	A	DNAH11				NC_000007.13:g.21904237G>A	VUS	1 lab	cc2b17e732
2:48010554 MSH6 C>T	2	48010554	48010554	C	T	MSH6	c.182C>T	NM_000179.2	NP_000170.1:p.(Ala61Val)	NC_000002.11:g.48010554C>T	VUS	1 lab	cc2b79799d
9:13247637 MPDZ G>A	9	13247637	13247637	G	A	MPDZ	c.180C>T	NM_001261406.1	NP_001248335.1:p.(Asp60=)	NC_000009.11:g.13247637G>A	(Likely) benign	1 lab	cc2ea047bd
4:56830430 CEP135 A>G	4	56830430	56830430	A	G	CEP135	c.700-10A>G	NM_025009.4	NP_079285.2:p.?	NC_000004.11:g.56830430A>G	(Likely) benign	1 lab	cc2eb58997
16:47684460 PHKB G>A	16	47684460	47684460	G	A	PHKB	c.1782G>A	NM_001031835.2	NP_001027005.1:p.(Ala594=)	NC_000016.9:g.47684460G>A	(Likely) benign	1 lab	cc307095d6
1:110146079 GNAT2 CTG>C	1	110146079	110146082	CTG	C	GNAT2	c.960_961del	NM_001377295.2	NP_001364224.1:p.(Tyr320Ter)	NC_000001.10:g.110146081_110146082del	(Likely) pathogenic	1 lab	cc30bafb4c
2:219679356 CYP27A1 G>A	2	219679356	219679356	G	A	CYP27A1	c.1352G>A	NM_000784.3	NP_000775.1:p.(Arg451Lys)	NC_000002.11:g.219679356G>A	(Likely) benign	1 lab	cc315a2d4a
16:2106362 TSC2 C>G	16	2106362	2106362	C	G	TSC2	c.648+117C>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106362C>G	(Likely) benign	1 lab	cc3179b231
18:7016561 LAMA1 G>T	18	7016561	7016561	G	T	LAMA1	c.2918C>A	NM_005559.3	NP_005550.2:p.(Pro973Gln)	NC_000018.9:g.7016561G>T	(Likely) benign	1 lab	cc31b5b55e
X:44202814 EFHC2 C>T	X	44202814	44202814	C	T	EFHC2	c.21G>A	NM_025184.3	NP_079460.2:p.(Pro7=)	NC_000023.10:g.44202814C>T	(Likely) benign	1 lab	cc320fc780
12:57435234 MYO1A G>A	12	57435234	57435234	G	A	MYO1A	c.1146C>T	NM_001256041.1	NP_001242970.1:p.(Tyr382=)	NC_000012.11:g.57435234G>A	(Likely) benign	1 lab	cc33b98aa3
X:153130860 L1CAM G>T	X	153130860	153130860	G	T	L1CAM	c.2643C>A	NM_001278116.1	NP_001265045.1:p.(Ile881=)	NC_000023.10:g.153130860G>T	(Likely) benign	1 lab	cc3478f24a
18:44157679 LOXHD1 G>A	18	44157679	44157679	G	A	LOXHD1	c.1961C>T	NM_144612.6	NP_653213.6:p.(Pro654Leu)	NC_000018.9:g.44157679G>A	VUS	1 lab	cc3672463b
X:39923719 BCOR C>T	X	39923719	39923719	C	T	BCOR	c.3372G>A	NM_001123385.1	NP_001116857.1:p.(Met1124Ile)	NC_000023.10:g.39923719C>T	(Likely) benign	1 lab	cc377231f5
1:43396854 SLC2A1 C>G	1	43396854	43396854	C	G	SLC2A1	c.138G>C	NM_006516.3	NP_006507.2:p.(Gln46His)	NC_000001.10:g.43396854C>G	(Likely) benign	1 lab	cc3773f9b5
X:153295819 MECP2 C>A	X	153295819	153295819	C	A	MECP2	c.1460G>T	NM_004992.3	NP_004983.1:p.(Ter487LeuextTer27)	NC_000023.10:g.153295819C>A	(Likely) pathogenic	1 lab	cc387cb451
2:179441758 TTN T>A	2	179441758	179441758	T	A	TTN	c.69304A>T	NM_001267550.1	NP_001254479.1:p.(Thr23102Ser)	NC_000002.11:g.179441758T>A	VUS	1 lab	cc38e879f9
1:19208266 ALDH4A1 T>C	1	19208266	19208266	T	C	ALDH4A1	c.794A>G	NM_003748.4	NP_003739.2:p.(Asp265Gly)	NC_000001.10:g.19208266T>C	VUS	1 lab	cc3a7c34b5
18:7049217 LAMA1 C>T	18	7049217	7049217	C	T	LAMA1	c.628G>A	NM_005559.3	NP_005550.2:p.(Asp210Asn)	NC_000018.9:g.7049217C>T	VUS	1 lab	cc3c3c56b5
1:5925201 NPHP4 C>T	1	5925201	5925201	C	T	NPHP4	c.3777G>A	NM_015102.4	NP_055917.1:p.(Arg1259=)	NC_000001.10:g.5925201C>T	(Likely) benign	1 lab	cc3c62b4ed
7:107638853 LAMB1 C>T	7	107638853	107638853	C	T	LAMB1	c.298G>A	NM_002291.2	NP_002282.2:p.(Val100Ile)	NC_000007.13:g.107638853C>T	VUS	1 lab	cc3d4dd32a
17:29665720 NF1 A>C	17	29665720	29665720	A	C	NF1	c.6757-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665720A>C	(Likely) pathogenic	1 lab	cc3d85810e
X:114540893 LUZP4 AATC>A	X	114540893	114540901	AATC	A	LUZP4	c.472_474del	NM_016383.5	NP_057467.1:p.(His158del)	NC_000023.10:g.114540899_114540901del	(Likely) benign	1 lab	cc3e028414
3:69075245 TMF1 G>A	3	69075245	69075245	G	A	TMF1	c.2761C>T	NM_007114.3	NP_009045.2:p.(Arg921Cys)	NC_000003.11:g.69075245G>A	VUS	1 lab	cc3f9c4257
X:106093278 TBC1D8B T>C	X	106093278	106093278	T	C	TBC1D8B	c.1861T>C	NM_017752.2	NP_060222.2:p.(Phe621Leu)	NC_000023.10:g.106093278T>C	VUS	1 lab	cc3fdd9c4f
X:38146184 RPGR C>A	X	38146184	38146184	C	A	RPGR	c.2068G>T	NM_001034853.1	NP_001030025.1:p.(Gly690Ter)	NC_000023.10:g.38146184C>A	(Likely) pathogenic	1 lab	cc408fcbe3
16:84211378 DNAAF1 A>G	16	84211378	84211378	A	G	DNAAF1	c.2109A>G	NM_178452.5	NP_848547.4:p.(Gly703=)	NC_000016.9:g.84211378A>G	(Likely) benign	1 lab	cc412da394
4:107165879 TBCK A>G	4	107165879	107165879	A	G	TBCK	c.458T>C	NM_001290768.1	NP_001277697.1:p.(Val153Ala)	NC_000004.11:g.107165879A>G	VUS	1 lab	cc4231f2ae
22:36688107 MYH9 G>A	22	36688107	36688107	G	A	MYH9	c.4269C>T	NM_002473.5	NP_002464.1:p.(Asp1423=)	NC_000022.10:g.36688107G>A	(Likely) benign	1 lab	cc4478d9c9
2:169814628 ABCB11 A>ATGTCGT	2	169814628	169814633	A	ATGTCGT	ABCB11	c.2188_2189insACGACA	NM_003742.4	NP_003733.2:p.(Asp729_Ile730insAsnAsp)	NC_000002.11:g.169814632_169814633insGTTGTC	VUS	1 lab	cc455f73b9
13:39425149 FREM2 C>T	13	39425149	39425149	C	T	FREM2	c.6646C>T	NM_207361.5	NP_997244.4:p.(Arg2216Cys)	NC_000013.10:g.39425149C>T	VUS	1 lab	cc474f0651
14:73664798 PSEN1 G>C	14	73664798	73664798	G	C	PSEN1	c.829G>C	NM_000021.3	NP_000012.1:p.(Glu277Gln)	NC_000014.8:g.73664798G>C	VUS	1 lab	cc47a44565
20:34025182 GDF5 A>G	20	34025182	34025182	A	G	GDF5	c.527T>C	NM_000557.4	NP_000548.2:p.(Leu176Pro)	NC_000020.10:g.34025182A>G	(Likely) pathogenic	1 lab	cc47c7a332
3:121386377 GOLGB1 T>A	3	121386377	121386377	T	A	GOLGB1	c.9383A>T	NM_001256487.1	NP_001243416.1:p.(Asp3128Val)	NC_000003.11:g.121386377T>A	VUS	1 lab	cc495d93e8
20:10626640 JAG1 C>A	20	10626640	10626640	C	A	JAG1	c.1978G>T	NM_000214.3	NP_000205.1:p.(Glu660Ter)	NC_000020.10:g.10626640C>A	(Likely) pathogenic	1 lab	cc4a0af266
3:12545105 TSEN2 C>T	3	12545105	12545105	C	T	TSEN2	c.653C>T	NM_025265.3	NP_079541.1:p.(Pro218Leu)	NC_000003.11:g.12545105C>T	(Likely) benign	1 lab	cc4bbad9ff
X:100911228 ARMCX2 T>C	X	100911228	100911228	T	C	ARMCX2	c.1347A>G	NM_177949.3	NP_808818.1:p.(Leu449=)	NC_000023.10:g.100911228T>C	(Likely) benign	1 lab	cc4dd4caec
19:17955065 JAK3 G>A	19	17955065	17955065	G	A	JAK3	c.162C>T	NM_000215.3	NP_000206.2:p.(Cys54=)	NC_000019.9:g.17955065G>A	(Likely) benign	1 lab	cc4e239c36
1:243581340 SDCCAG8 A>G	1	243581340	243581340	A	G	SDCCAG8	c.1815A>G	NM_006642.4	NP_006633.1:p.(Thr605=)	NC_000001.10:g.243581340A>G	(Likely) benign	1 lab	cc4ef01437
4:111539394 PITX2 G>A	4	111539394	111539394	G	A	PITX2	c.841C>T	NM_001204397.1	NP_001191326.1:p.(Leu281=)	NC_000004.11:g.111539394G>A	(Likely) benign	1 lab	cc4f06bfb4
X:49143317 PPP1R3F C>T	X	49143317	49143317	C	T	PPP1R3F	c.2165C>T	NM_033215.4	NP_149992.3:p.(Pro722Leu)	NC_000023.10:g.49143317C>T	(Likely) benign	1 lab	cc4f11a2d8
16:68844253 CDH1 A>T	16	68844253	68844253	A	T	CDH1	c.-784+9A>T	NM_001317185.1	NP_001304114.1:p.?	NC_000016.9:g.68844253A>T	(Likely) benign	1 lab	cc5034e74b
14:105246462 AKT1 G>T	14	105246462	105246462	G	T	AKT1	c.138C>A	NM_001014432.1	NP_001014432.1:p.(Asp46Glu)	NC_000014.8:g.105246462G>T	(Likely) benign	1 lab	cc50a44043
6:152497701 SYNE1 T>G	6	152497701	152497701	T	G	SYNE1	c.23461-6A>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152497701T>G	(Likely) benign	1 lab	cc554c5264
4:123257350 BLTP1 A>G	4	123257350	123257350	A	G	BLTP1	c.11852A>G	NM_015312.3	NP_056127.2:p.(Lys3951Arg)	NC_000004.11:g.123257350A>G	VUS	1 lab	cc567488d0
5:141335741 PCDH12 T>C	5	141335741	141335741	T	C	PCDH12	c.1676A>G	NM_016580.3	NP_057664.1:p.(Asn559Ser)	NC_000005.9:g.141335741T>C	VUS	1 lab	cc56765f0f
1:27087893 ARID1A G>T	1	27087893	27087893	G	T	ARID1A	c.2180G>T	NM_006015.4	NP_006006.3:p.(Arg727Leu)	NC_000001.10:g.27087893G>T	VUS	1 lab	cc56e53b5a
2:238289567 COL6A3 T>C	2	238289567	238289567	T	C	COL6A3	c.1888A>G	NM_004369.3	NP_004360.2:p.(Thr630Ala)	NC_000002.11:g.238289567T>C	VUS	1 lab	cc5770bc8e
X:153223619 HCFC1 T>C	X	153223619	153223619	T	C	HCFC1	c.1885A>G	NM_005334.2	NP_005325.2:p.(Thr629Ala)	NC_000023.10:g.153223619T>C	VUS	1 lab	cc594f81aa
9:90748519 SPATA31C2 G>A	9	90748519	90748519	G	A	SPATA31C2	c.255C>T	NM_001350978.1	NP_001337907.1:p.(His85=)	NC_000009.11:g.90748519G>A	(Likely) benign	1 lab	cc598cab1d
4:5624614 EVC2 G>A	4	5624614	5624614	G	A	EVC2	c.1911C>T	NM_001166136.1	NP_001159608.1:p.(His637=)	NC_000004.11:g.5624614G>A	(Likely) benign	1 lab	cc59f38ad4
2:179457924 TTN G>A	2	179457924	179457924	G	A	TTN	c.59011C>T	NM_001267550.1	NP_001254479.1:p.(Pro19671Ser)	NC_000002.11:g.179457924G>A	VUS	1 lab	cc5a151bd0
5:41172442 C6 G>A	5	41172442	41172442	G	A	C6	c.1176C>T	NM_001115131.2	NP_001108603.2:p.(Thr392=)	NC_000005.9:g.41172442G>A	(Likely) benign	1 lab	cc5d0be4dc
2:64144020 VPS54 AA>TC	2	64144020	64144021	AA	TC	VPS54	c.2228+13_2228+14delinsGA	NM_016516.2	NP_057600.2:p.?	NC_000002.11:g.64144020_64144021delinsTC	(Likely) benign	1 lab	cc5ddeeb5f
13:48936943 RB1 T>C	13	48936943	48936943	T	C	RB1	c.719-8T>C	NM_000321.2	NP_000312.2:p.?	NC_000013.10:g.48936943T>C	(Likely) benign	1 lab	cc5e03eb0f
12:80645580 OTOGL G>C	12	80645580	80645580	G	C	OTOGL	c.1132+1G>C	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80645580G>C	(Likely) pathogenic	1 lab	cc60912d65
6:152651834 SYNE1 C>T	6	152651834	152651834	C	T	SYNE1	c.13986G>A	NM_182961.3	NP_892006.3:p.(Lys4662=)	NC_000006.11:g.152651834C>T	(Likely) benign	1 lab	cc62245665
X:77372809 PGK1 G>A	X	77372809	77372809	G	A	PGK1	c.418G>A	NM_000291.3	NP_000282.1:p.(Val140Ile)	NC_000023.10:g.77372809G>A	(Likely) benign	1 lab	cc63c642ab
17:29556281 NF1 CAG>C	17	29556281	29556285	CAG	C	NF1	c.2651_2652del	NM_001042492.3	NP_001035957.1:p.(Glu884GlyfsTer21)	NC_000017.10:g.29556284_29556285del	(Likely) pathogenic	1 lab	cc64dadff0
19:36223771 KMT2B G>A	19	36223771	36223771	G	A	KMT2B	c.6321G>A	NM_014727.2	NP_055542.1:p.(Glu2107=)	NC_000019.9:g.36223771G>A	(Likely) benign	1 lab	cc65931648
20:43836470 SEMG1 G>A	20	43836470	43836470	G	A	SEMG1	c.532G>A	NM_003007.5	NP_002998.1:p.(Val178Ile)	NC_000020.10:g.43836470G>A	(Likely) benign	1 lab	cc65d672be
4:3133113 HTT G>A	4	3133113	3133113	G	A	HTT	c.2093G>A	NM_002111.8	NP_002102.4:p.(Gly698Glu)	NC_000004.11:g.3133113G>A	VUS	1 lab	cc66cbcb66
X:149681200 MAMLD1 T>G	X	149681200	149681200	T	G	MAMLD1	c.2854T>G	NM_001177465.3	NP_001170936.1:p.(Leu952Val)	NC_000023.10:g.149681200T>G	(Likely) benign	1 lab	cc675c07f2
7:31904586 PDE1C C>T	7	31904586	31904586	C	T	PDE1C	c.900G>A	NM_001322058.1	NP_001308987.1:p.(Val300=)	NC_000007.13:g.31904586C>T	(Likely) benign	1 lab	cc68f3dbd4
X:107925051 COL4A5 T>C	X	107925051	107925051	T	C	COL4A5	c.4149T>C	NM_033380.2	NP_203699.1:p.(Pro1383=)	NC_000023.10:g.107925051T>C	(Likely) benign	1 lab	cc693fb70c
4:128886238 MFSD8 T>G	4	128886238	128886238	T	G	MFSD8	c.51A>C	NM_152778.2	NP_689991.1:p.(Thr17=)	NC_000004.11:g.128886238T>G	(Likely) benign	1 lab	cc69478986
1:33248074 YARS1 G>A	1	33248074	33248074	G	A	YARS1	c.973C>T	NM_003680.3	NP_003671.1:p.(Arg325Trp)	NC_000001.10:g.33248074G>A	VUS	1 lab	cc6aa427b2
9:124065263 GSN C>T	9	124065263	124065263	C	T	GSN	c.271C>T	NM_001353053.1	NP_001339982.1:p.(Arg91Trp)	NC_000009.11:g.124065263C>T	(Likely) benign	1 lab	cc6acfaa63
14:64453236 SYNE2 T>A	14	64453236	64453236	T	A	SYNE2	c.2214T>A	NM_182914.2	NP_878918.2:p.(Asp738Glu)	NC_000014.8:g.64453236T>A	(Likely) benign	1 lab	cc6f63b0d2
11:1619285 KRTAP5-2 C>T	11	1619285	1619285	C	T	KRTAP5-2	c.196G>A	NM_001004325.1	NP_001004325.1:p.(Val66Met)	NC_000011.9:g.1619285C>T	(Likely) benign	1 lab	cc710577fb
14:105417120 AHNAK2 T>G	14	105417120	105417120	T	G	AHNAK2	c.4668A>C	NM_138420.3	NP_612429.2:p.(Gln1556His)	NC_000014.8:g.105417120T>G	(Likely) benign	1 lab	cc73fee77b
17:29509660 NF1 G>C	17	29509660	29509660	G	C	NF1	c.865G>C	NM_000267.3	NP_000258.1:p.(Val289Leu)	NC_000017.10:g.29509660G>C	VUS	1 lab	cc745f7bac
8:48767928 PRKDC G>A	8	48767928	48767928	G	A	PRKDC	c.6616C>T	NM_006904.6	NP_008835.5:p.(Pro2206Ser)	NC_000008.10:g.48767928G>A	(Likely) benign	1 lab	cc74f00590
11:17656384 OTOG G>GGGCCAGT	11	17656384	17656392	G	GGGCCAGT	OTOG	c.7517-5_7518dup	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17656386_17656392dup	(Likely) pathogenic	1 lab	cc750fb5e0
14:100123430 HHIPL1 T>C	14	100123430	100123430	T	C	HHIPL1	c.996T>C	NM_001127258.2	NP_001120730.1:p.(Asp332=)	NC_000014.8:g.100123430T>C	(Likely) benign	1 lab	cc756b55dc
16:3580633 CLUAP1 C>T	16	3580633	3580633	C	T	CLUAP1	c.994C>T	NM_015041.2	NP_055856.1:p.(Arg332Trp)	NC_000016.9:g.3580633C>T	VUS	1 lab	cc75ad10bf
14:105410412 AHNAK2 G>A	14	105410412	105410412	G	A	AHNAK2	c.11376C>T	NM_138420.3	NP_612429.2:p.(Ala3792=)	NC_000014.8:g.105410412G>A	(Likely) benign	1 lab	cc75de2116
16:10788384 TEKT5 G>A	16	10788384	10788384	G	A	TEKT5	c.347C>T	NM_144674.1	NP_653275.1:p.(Thr116Met)	NC_000016.9:g.10788384G>A	(Likely) benign	1 lab	cc75e5a48b
8:104778602 RIMS2 A>C	8	104778602	104778602	A	C	RIMS2	c.667A>C	NM_001348484.1	NP_001335413.1:p.(Lys223Gln)	NC_000008.10:g.104778602A>C	VUS	1 lab	cc774e9fce
9:36344867 RNF38 A>G	9	36344867	36344867	A	G	RNF38	c.1098T>C	NM_194328.2	NP_919309.1:p.(Tyr366=)	NC_000009.11:g.36344867A>G	(Likely) benign	1 lab	cc77fe033a
16:88495677 ZNF469 C>T	16	88495677	88495677	C	T	ZNF469				NC_000016.9:g.88495677C>T	VUS	1 lab	cc79744638
8:133935618 TG C>A	8	133935618	133935618	C	A	TG	c.4564C>A	NM_003235.4	NP_003226.4:p.(Gln1522Lys)	NC_000008.10:g.133935618C>A	(Likely) benign	1 lab	cc7b857636
13:32918700 BRCA2 C>T	13	32918700	32918700	C	T	BRCA2	c.6847C>T	NM_000059.3	NP_000050.2:p.(Pro2283Ser)	NC_000013.10:g.32918700C>T	VUS	1 lab	cc7b901cec
9:137715268 COL5A1 A>C	9	137715268	137715268	A	C	COL5A1	c.4651A>C	NM_000093.4	NP_000084.3:p.(Thr1551Pro)	NC_000009.11:g.137715268A>C	VUS	1 lab	cc7c0c687e
7:21940642 DNAH11 C>G	7	21940642	21940642	C	G	DNAH11				NC_000007.13:g.21940642C>G	VUS	1 lab	cc7de01811
18:7012041 LAMA1 C>T	18	7012041	7012041	C	T	LAMA1	c.3460G>A	NM_005559.3	NP_005550.2:p.(Gly1154Arg)	NC_000018.9:g.7012041C>T	VUS	1 lab	cc7e8f1995
17:1636080 WDR81 C>T	17	1636080	1636080	C	T	WDR81	c.4444C>T	NM_001163809.1	NP_001157281.1:p.(Leu1482=)	NC_000017.10:g.1636080C>T	(Likely) benign	1 lab	cc7f178abe
4:629702 PDE6B T>C	4	629702	629702	T	C	PDE6B	c.655T>C	NM_000283.3	NP_000274.2:p.(Tyr219His)	NC_000004.11:g.629702T>C	(Likely) benign	1 lab	cc804dfd04
2:136561587 LCT G>A	2	136561587	136561587	G	A	LCT	c.4576C>T	NM_002299.2	NP_002290.2:p.(Leu1526=)	NC_000002.11:g.136561587G>A	VUS	1 lab	cc80bd06db
5:37227918 CPLANE1 G>A	5	37227918	37227918	G	A	CPLANE1	c.1123C>T	NM_023073.3	NP_075561.3:p.(Pro375Ser)	NC_000005.9:g.37227918G>A	VUS	1 lab	cc8177b3b4
18:60985761 BCL2 C>T	18	60985761	60985761	C	T	BCL2	c.139G>A	NM_000633.2	NP_000624.2:p.(Gly47Ser)	NC_000018.9:g.60985761C>T	(Likely) benign	1 lab	cc834e9845
3:195512421 MUC4 A>C	3	195512421	195512421	A	C	MUC4	c.6030T>G	NM_018406.6	NP_060876.5:p.(Ser2010=)	NC_000003.11:g.195512421A>C	(Likely) benign	1 lab	cc850dc8bf
1:114438446 AP4B1 G>A	1	114438446	114438446	G	A	AP4B1	c.1725C>T	NM_006594.4	NP_006585.2:p.(Ile575=)	NC_000001.10:g.114438446G>A	(Likely) benign	1 lab	cc864af211
11:3697790 NUP98 G>A	11	3697790	3697790	G	A	NUP98	c.5134C>T	NM_016320.5	NP_057404.2:p.(Arg1712Trp)	NC_000011.9:g.3697790G>A	VUS	1 lab	cc869bb4ca
21:47847547 PCNT C>T	21	47847547	47847547	C	T	PCNT	c.7332C>T	NM_006031.5	NP_006022.3:p.(Thr2444=)	NC_000021.8:g.47847547C>T	(Likely) benign	1 lab	cc86d5c021
15:67473660 SMAD3 CAT>C	15	67473660	67473662	CAT	C	SMAD3	c.741_742del	NM_005902.4	NP_005893.1:p.(Phe248ProfsTer62)	NC_000015.9:g.67473661_67473662del	(Likely) pathogenic	1 lab	cc87644b33
3:138664845 FOXL2 G>T	3	138664845	138664845	G	T	FOXL2	c.720C>A	NM_023067.4	NP_075555.1:p.(Gly240=)	NC_000003.11:g.138664845G>T	(Likely) benign	1 lab	cc88919e37
16:2283535 E4F1 G>A	16	2283535	2283535	G	A	E4F1	c.1153G>A	NM_004424.5	NP_004415.4:p.(Ala385Thr)	NC_000016.9:g.2283535G>A	(Likely) benign	1 lab	cc89cf4b2b
18:2937749 LPIN2 G>A	18	2937749	2937749	G	A	LPIN2	c.1109C>T	NM_014646.2	NP_055461.1:p.(Ala370Val)	NC_000018.9:g.2937749G>A	(Likely) benign	1 lab	cc8a059327
15:89876836 POLG C>T	15	89876836	89876836	C	T	POLG	c.150G>A	NM_002693.2	NP_002684.1:p.(Gln50=)	NC_000015.9:g.89876836C>T	(Likely) benign	1 lab	cc8a0c774d
17:78165231 CARD14 G>A	17	78165231	78165231	G	A	CARD14	c.1199G>A	NM_024110.4	NP_077015.2:p.(Arg400His)	NC_000017.10:g.78165231G>A	(Likely) benign	1 lab	cc8becb9e8
13:111137367 COL4A2 C>T	13	111137367	111137367	C	T	COL4A2	c.3018C>T	NM_001846.3	NP_001837.2:p.(Gly1006=)	NC_000013.10:g.111137367C>T	(Likely) benign	1 lab	cc8c8f5ccf
16:4949329 PPL G>C	16	4949329	4949329	G	C	PPL	c.663C>G	NM_002705.5	NP_002696.4:p.(Arg221=)	NC_000016.9:g.4949329G>C	(Likely) benign	1 lab	cc8cabb51a
20:23029417 THBD G>C	20	23029417	23029417	G	C	THBD	c.725C>G	NM_000361.2	NP_000352.1:p.(Ala242Gly)	NC_000020.10:g.23029417G>C	VUS	1 lab	cc8cbb0655
17:80402003 CYBC1 G>C	17	80402003	80402003	G	C	CYBC1	c.444-3C>G	NM_001193653.1	NP_001180582.1:p.?	NC_000017.10:g.80402003G>C	(Likely) benign	1 lab	cc8e6dc56d
8:1719538 CLN8 C>T	8	1719538	1719538	C	T	CLN8	c.318C>T	NM_018941.3	NP_061764.2:p.(His106=)	NC_000008.10:g.1719538C>T	(Likely) benign	1 lab	cc8ec9faa8
16:2160627 PKD1 G>C	16	2160627	2160627	G	C	PKD1	c.4541C>G	NM_001009944.2	NP_001009944.2:p.(Thr1514Ser)	NC_000016.9:g.2160627G>C	(Likely) benign	1 lab	cc8f17a55f
X:99663393 PCDH19 G>GGA	X	99663393	99663394	G	GGA	PCDH19	c.202_203insTC	NM_001184880.1	NP_001171809.1:p.(Ala68ValfsTer5)	NC_000023.10:g.99663393_99663394insGA	(Likely) pathogenic	1 lab	cc90df72f9
2:220096683 ANKZF1 T>C	2	220096683	220096683	T	C	ANKZF1	c.182T>C	NM_018089.2	NP_060559.2:p.(Leu61Pro)	NC_000002.11:g.220096683T>C	(Likely) benign	1 lab	cc91354218
16:89346225 ANKRD11 G>A	16	89346225	89346225	G	A	ANKRD11	c.6725C>T	NM_001256182.1	NP_001243111.1:p.(Ala2242Val)	NC_000016.9:g.89346225G>A	(Likely) benign	1 lab	cc91dcb51d
3:97593540 CRYBG3 G>A	3	97593540	97593540	G	A	CRYBG3	c.3502G>A	NM_153605.4	NP_705833.3:p.(Gly1168Ser)	NC_000003.11:g.97593540G>A	(Likely) benign	1 lab	cc947dc1d3
19:7527126 ARHGEF18 C>G	19	7527126	7527126	C	G	ARHGEF18	c.1503C>G	NM_015318.3	NP_056133.2:p.(Leu501=)	NC_000019.9:g.7527126C>G	(Likely) benign	1 lab	cc98395b95
8:42693321 THAP1 T>G	8	42693321	42693321	T	G	THAP1	c.426A>C	NM_018105.2	NP_060575.1:p.(Thr142=)	NC_000008.10:g.42693321T>G	(Likely) benign	1 lab	cc99978752
X:152807308 ATP2B3 G>A	X	152807308	152807308	G	A	ATP2B3	c.588G>A	NM_021949.3	NP_068768.2:p.(Thr196=)	NC_000023.10:g.152807308G>A	(Likely) benign	1 lab	cc99e338dc
5:1443163 SLC6A3 C>A	5	1443163	1443163	C	A	SLC6A3	c.150G>T	NM_001044.4	NP_001035.1:p.(Pro50=)	NC_000005.9:g.1443163C>A	(Likely) benign	1 lab	cc9b26f574
X:41202037 DDX3X A>G	X	41202037	41202037	A	G	DDX3X	c.491A>G	NM_001356.4	NP_001347.3:p.(Asp164Gly)	NC_000023.10:g.41202037A>G	VUS	1 lab	cc9b3ff2a9
11:76885862 MYO7A C>T	11	76885862	76885862	C	T	MYO7A	c.1996C>T	NM_000260.3	NP_000251.3:p.(Arg666Ter)	NC_000011.9:g.76885862C>T	(Likely) pathogenic	1 lab	cc9c9ffbb6
19:45211317 CEACAM16 G>A	19	45211317	45211317	G	A	CEACAM16	c.1125G>A	NM_001039213.4	NP_001034302.2:p.(Ala375=)	NC_000019.9:g.45211317G>A	(Likely) benign	1 lab	cc9e7fb406
17:1631781 WDR81 C>T	17	1631781	1631781	C	T	WDR81	c.3528C>T	NM_001163809.1	NP_001157281.1:p.(Thr1176=)	NC_000017.10:g.1631781C>T	(Likely) benign	1 lab	cca1a32379
3:142216051 ATR C>T	3	142216051	142216051	C	T	ATR	c.5559-17G>A	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142216051C>T	(Likely) benign	1 lab	cca2d2e03b
17:29508438 NF1 A>G	17	29508438	29508438	A	G	NF1	c.587-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508438A>G	(Likely) pathogenic	1 lab	cca3d7aa1e
3:123166553 ADCY5 C>G	3	123166553	123166553	C	G	ADCY5	c.840G>C	NM_183357.2	NP_899200.1:p.(Val280=)	NC_000003.11:g.123166553C>G	(Likely) benign	1 lab	cca3f8412c
11:6412828 SMPD1 T>A	11	6412828	6412828	T	A	SMPD1	c.533T>A	NM_001318087.1	NP_001305016.1:p.(Ile178Asn)	NC_000011.9:g.6412828T>A	VUS	1 lab	cca40bc25d
X:39913593 BCOR G>A	X	39913593	39913593	G	A	BCOR	c.4742-7C>T	NM_001123385.1	NP_001116857.1:p.?	NC_000023.10:g.39913593G>A	(Likely) benign	1 lab	cca533b813
3:9506176 SETD5 T>G	3	9506176	9506176	T	G	SETD5	c.2250T>G	NM_001292043.1	NP_001278972.1:p.(Leu750=)	NC_000003.11:g.9506176T>G	(Likely) benign	1 lab	cca5ce02f9
X:102004398 ARMCX5-GPRASP2 T>A	X	102004398	102004398	T	A	ARMCX5-GPRASP2	c.475T>A	NM_001350268.1	NP_001337197.1:p.(Cys159Ser)	NC_000023.10:g.102004398T>A	VUS	1 lab	cca640eeeb
1:2234538 SKI A>G	1	2234538	2234538	A	G	SKI	c.1091A>G	NM_003036.3	NP_003027.1:p.(Asn364Ser)	NC_000001.10:g.2234538A>G	VUS	1 lab	cca71828ba
9:2718030 KCNV2 C>T	9	2718030	2718030	C	T	KCNV2	c.291C>T	NM_133497.3	NP_598004.1:p.(Ser97=)	NC_000009.11:g.2718030C>T	(Likely) benign	1 lab	cca7426ee6
12:111078238 TCTN1 C>T	12	111078238	111078238	C	T	TCTN1	c.894C>T	NM_001082538.2	NP_001076007.1:p.(Leu298=)	NC_000012.11:g.111078238C>T	(Likely) benign	1 lab	cca9115122
X:123020382 XIAP T>C	X	123020382	123020382	T	C	XIAP	c.870T>C	NM_001167.3	NP_001158.2:p.(Tyr290=)	NC_000023.10:g.123020382T>C	(Likely) benign	1 lab	ccab2c3d90
X:18913265 PHKA2 C>T	X	18913265	18913265	C	T	PHKA2	c.3327G>A	NM_000292.2	NP_000283.1:p.(Thr1109=)	NC_000023.10:g.18913265C>T	(Likely) benign	1 lab	ccac15ebfd
16:67208570 NOL3 G>C	16	67208570	67208570	G	C	NOL3	c.332G>C	NM_001185057.2	NP_001171986.1:p.(Arg111Pro)	NC_000016.9:g.67208570G>C	(Likely) benign	1 lab	ccad3e0710
5:122515937 PRDM6 C>T	5	122515937	122515937	C	T	PRDM6	c.1593C>T	NM_001136239.3	NP_001129711.1:p.(Cys531=)	NC_000005.9:g.122515937C>T	(Likely) benign	1 lab	ccada65a21
3:53137970 RFT1 G>A	3	53137970	53137970	G	A	RFT1	c.1101C>T	NM_052859.4	NP_443091.1:p.(Ser367=)	NC_000003.11:g.53137970G>A	VUS	1 lab	01f65def41
11:44146438 EXT2 A>G	11	44146438	44146438	A	G	EXT2	c.843A>G	NM_001178083.1	NP_001171554.1:p.(Leu281=)	NC_000011.9:g.44146438A>G	(Likely) benign	1 lab	ccae44f67a
13:110960403 COL4A2 C>T	13	110960403	110960403	C	T	COL4A2	c.45-13C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.110960403C>T	(Likely) benign	1 lab	ccae747e92
11:65638100 EFEMP2 C>T	11	65638100	65638100	C	T	EFEMP2	c.397G>A	NM_016938.4	NP_058634.4:p.(Asp133Asn)	NC_000011.9:g.65638100C>T	VUS	1 lab	ccaf28d8db
4:128811279 PLK4 CTA>C	4	128811279	128811281	CTA	C	PLK4	c.1719_1720del	NM_014264.5	NP_055079.3:p.(Arg574GlyfsTer41)	NC_000004.11:g.128811280_128811281del	VUS	1 lab	ccaf57938a
2:179635010 TTN G>A	2	179635010	179635010	G	A	TTN	c.8418C>T	NM_001267550.1	NP_001254479.1:p.(Ala2806=)	NC_000002.11:g.179635010G>A	(Likely) benign	1 lab	ccb04a9975
10:61844496 ANK3 T>C	10	61844496	61844496	T	C	ANK3	c.3938A>G	NM_020987.5	NP_066267.2:p.(Lys1313Arg)	NC_000010.10:g.61844496T>C	VUS	1 lab	ccb1252099
1:2337254 PEX10 C>T	1	2337254	2337254	C	T	PEX10	c.992G>A	NM_153818.1	NP_722540.1:p.(Arg331Gln)	NC_000001.10:g.2337254C>T	(Likely) pathogenic	1 lab	ccb22d5252
3:49459694 AMT C>T	3	49459694	49459694	C	T	AMT	c.101G>A	NM_000481.3	NP_000472.2:p.(Arg34His)	NC_000003.11:g.49459694C>T	VUS	1 lab	ccb35e5bc3
11:1268154 MUC5B C>T	11	1268154	1268154	C	T	MUC5B	c.10044C>T	NM_002458.2	NP_002449.2:p.(Thr3348=)	NC_000011.9:g.1268154C>T	VUS	1 lab	ccb4a5626c
5:150946328 FAT2 A>G	5	150946328	150946328	A	G	FAT2	c.2165T>C	NM_001447.2	NP_001438.1:p.(Ile722Thr)	NC_000005.9:g.150946328A>G	VUS	1 lab	ccb6722e9e
22:29908119 THOC5 A>T	22	29908119	29908119	A	T	THOC5	c.1688T>A	NM_001002878.1	NP_001002878.1:p.(Leu563Gln)	NC_000022.10:g.29908119A>T	VUS	1 lab	ccb6c9dbef
6:56495113 DST G>A	6	56495113	56495113	G	A	DST	c.4112C>T	NM_001144769.2	NP_001138241.1:p.(Thr1371Ile)	NC_000006.11:g.56495113G>A	VUS	1 lab	ccb7a071b1
8:144994409 PLEC C>T	8	144994409	144994409	C	T	PLEC	c.9991G>A	NM_201380.3	NP_958782.1:p.(Glu3331Lys)	NC_000008.10:g.144994409C>T	(Likely) benign	1 lab	ccbb91c720
1:153733351 INTS3 G>A	1	153733351	153733351	G	A	INTS3	c.1366G>A	NM_023015.4	NP_075391.3:p.(Val456Ile)	NC_000001.10:g.153733351G>A	VUS	1 lab	ccbbb4fb6f
11:64572238 MEN1 G>A	11	64572238	64572238	G	A	MEN1	c.1416C>T	NM_130803.2	NP_570715.1:p.(Ala472=)	NC_000011.9:g.64572238G>A	(Likely) benign	1 lab	ccbc9cb44a
22:38121788 TRIOBP G>GC	22	38121788	38121795	G	GC	TRIOBP	c.3232dup	NM_001039141.2	NP_001034230.1:p.(Arg1078ProfsTer6)	NC_000022.10:g.38121795dup	(Likely) pathogenic	1 lab	ccbccda4cb
X:117521311 WDR44 G>A	X	117521311	117521311	G	A	WDR44	c.120G>A	NM_019045.4	NP_061918.3:p.(Glu40=)	NC_000023.10:g.117521311G>A	(Likely) benign	1 lab	ccbde0ece4
3:46009538 FYCO1 G>A	3	46009538	46009538	G	A	FYCO1	c.1288C>T	NM_024513.3	NP_078789.2:p.(Gln430Ter)	NC_000003.11:g.46009538G>A	(Likely) pathogenic	1 lab	ccbe6d4fe9
4:6302852 WFS1 T>C	4	6302852	6302852	T	C	WFS1	c.1330T>C	NM_006005.3	NP_005996.2:p.(Tyr444His)	NC_000004.11:g.6302852T>C	VUS	1 lab	ccc07712d4
10:72468468 ADAMTS14 C>T	10	72468468	72468468	C	T	ADAMTS14	c.804C>T	NM_139155.3	NP_631894.2:p.(Asp268=)	NC_000010.10:g.72468468C>T	(Likely) benign	1 lab	ccc14307f9
X:63488798 MTMR8 G>T	X	63488798	63488798	G	T	MTMR8	c.1734C>A	NM_017677.3	NP_060147.2:p.(Asp578Glu)	NC_000023.10:g.63488798G>T	(Likely) benign	1 lab	ccc58d76d4
17:29550582 NF1 TA>T	17	29550582	29550584	TA	T	NF1	c.1844del	NM_001042492.3	NP_001035957.1:p.(Lys615SerfsTer16)	NC_000017.10:g.29550584del	(Likely) pathogenic	1 lab	ccc5d129ea
9:117826356 TNC G>A	9	117826356	117826356	G	A	TNC	c.3488-9C>T	NM_002160.3	NP_002151.2:p.?	NC_000009.11:g.117826356G>A	(Likely) benign	1 lab	ccc856b993
20:47641906 ARFGEF2 G>A	20	47641906	47641906	G	A	ARFGEF2	c.4812G>A	NM_006420.2	NP_006411.2:p.(Lys1604=)	NC_000020.10:g.47641906G>A	(Likely) benign	1 lab	ccc861a7d1
14:95562253 DICER1 A>AT	14	95562253	95562257	A	AT	DICER1	c.5003dup	NM_030621.4	NP_085124.2:p.(Asn1668LysfsTer3)	NC_000014.8:g.95562257dup	(Likely) pathogenic	1 lab	ccc87f3602
X:44969413 KDM6A A>G	X	44969413	44969413	A	G	KDM6A	c.4251A>G	NM_001291415.1	NP_001278344.1:p.(Thr1417=)	NC_000023.10:g.44969413A>G	(Likely) benign	1 lab	ccc96f8550
X:77528924 CYSLTR1 A>T	X	77528924	77528924	A	T	CYSLTR1	c.320T>A	NM_001282187.1	NP_001269116.1:p.(Leu107His)	NC_000023.10:g.77528924A>T	VUS	1 lab	ccc9a7ea47
1:201030460 CACNA1S C>T	1	201030460	201030460	C	T	CACNA1S	c.3190G>A	NM_000069.2	NP_000060.2:p.(Val1064Ile)	NC_000001.10:g.201030460C>T	VUS	1 lab	cccccaaaac
17:27185682 ERAL1 G>C	17	27185682	27185682	G	C	ERAL1	c.797G>C	NM_001317985.1	NP_001304914.1:p.(Arg266Thr)	NC_000017.10:g.27185682G>C	(Likely) benign	1 lab	ccd32fdc4c
17:29677307 NF1 T>G	17	29677307	29677307	T	G	NF1	c.7365T>G	NM_000267.3	NP_000258.1:p.(Tyr2455Ter)	NC_000017.10:g.29677307T>G	(Likely) pathogenic	1 lab	ccd359b7e0
X:153186874 ARHGAP4 G>A	X	153186874	153186874	G	A	ARHGAP4	c.379C>T	NM_001164741.1	NP_001158213.1:p.(Pro127Ser)	NC_000023.10:g.153186874G>A	VUS	1 lab	ccd3fcc3d4
12:52215490 FIGNL2 G>A	12	52215490	52215490	G	A	FIGNL2	c.708C>T	NM_001013690.4	NP_001013712.4:p.(Pro236=)	NC_000012.11:g.52215490G>A	(Likely) benign	1 lab	ccd531573f
9:2645773 VLDLR T>G	9	2645773	2645773	T	G	VLDLR	c.1484+28T>G	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2645773T>G	(Likely) benign	1 lab	ccd91831f9
X:102565363 BEX2 T>G	X	102565363	102565363	T	G	BEX2	c.16-2A>C	NM_001168399.1	NP_001161871.1:p.?	NC_000023.10:g.102565363T>G	VUS	1 lab	ccd95d1e4f
22:18606947 TUBA8 G>A	22	18606947	18606947	G	A	TUBA8	c.251G>A	NM_018943.2	NP_061816.1:p.(Arg84His)	NC_000022.10:g.18606947G>A	VUS	1 lab	ccda4951b0
5:171765422 SH3PXD2B G>A	5	171765422	171765422	G	A	SH3PXD2B	c.2687C>T	NM_001017995.2	NP_001017995.1:p.(Pro896Leu)	NC_000005.9:g.171765422G>A	VUS	1 lab	ccdb184d76
8:41552742 ANK1 C>T	8	41552742	41552742	C	T	ANK1	c.3191G>A	NM_001142446.1	NP_001135918.1:p.(Arg1064His)	NC_000008.10:g.41552742C>T	VUS	1 lab	ccde2ac87b
12:40740628 LRRK2 ACTACT>A	12	40740628	40740636	ACTACT	A	LRRK2	c.6187_6191del	NM_198578.4	NP_940980.4:p.(Leu2063Ter)	NC_000012.11:g.40740632_40740636del	(Likely) benign	1 lab	ccde7b32e9
2:186658699 FSIP2 G>A	2	186658699	186658699	G	A	FSIP2	c.6836G>A	NM_173651.3	NP_775922.3:p.(Ser2279Asn)	NC_000002.11:g.186658699G>A	(Likely) benign	1 lab	ccdfee8418
6:152711406 SYNE1 G>A	6	152711406	152711406	G	A	SYNE1	c.8177+9C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152711406G>A	(Likely) benign	1 lab	ccdffe2db4
7:117307286 CFTR G>GT	7	117307286	117307295	G	GT	CFTR	c.*133dup	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117307295dup	(Likely) benign	1 lab	cce11ea6dc
11:62462056 BSCL2 G>A	11	62462056	62462056	G	A	BSCL2	c.614C>T	NM_001122955.3	NP_001116427.1:p.(Ser205Phe)	NC_000011.9:g.62462056G>A	VUS	1 lab	cce3021ba6
11:31703509 ELP4 G>A	11	31703509	31703509	G	A	ELP4	c.1318G>A	NM_001288726.1	NP_001275655.1:p.(Glu440Lys)	NC_000011.9:g.31703509G>A	(Likely) benign	1 lab	cce33f0e0d
12:111082827 TCTN1 T>C	12	111082827	111082827	T	C	TCTN1	c.853T>C	NM_001319681.1	NP_001306610.1:p.(Trp285Arg)	NC_000012.11:g.111082827T>C	VUS	1 lab	cce40ca454
15:34015073 RYR3 C>T	15	34015073	34015073	C	T	RYR3	c.6777C>T	NM_001036.4	NP_001027.3:p.(Pro2259=)	NC_000015.9:g.34015073C>T	(Likely) benign	1 lab	cce456a2a7
19:48565303 PLA2G4C C>T	19	48565303	48565303	C	T	PLA2G4C	c.1209G>A	NM_001159323.1	NP_001152795.1:p.(Glu403=)	NC_000019.9:g.48565303C>T	(Likely) benign	1 lab	cce665684a
15:85410597 ALPK3 G>T	15	85410597	85410597	G	T	ALPK3	c.5378+1G>T	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85410597G>T	VUS	1 lab	cce6d96fe8
19:9091774 MUC16 G>A	19	9091774	9091774	G	A	MUC16	c.41C>T	NM_024690.2	NP_078966.2:p.(Thr14Ile)	NC_000019.9:g.9091774G>A	VUS	1 lab	ccea2a9ef5
1:197102592 ASPM T>C	1	197102592	197102592	T	C	ASPM	c.2307A>G	NM_018136.4	NP_060606.3:p.(Ala769=)	NC_000001.10:g.197102592T>C	(Likely) benign	1 lab	ccec42c0a3
12:124887003 NCOR2 C>T	12	124887003	124887003	C	T	NCOR2	c.1587G>A	NM_006312.5	NP_006303.4:p.(Ala529=)	NC_000012.11:g.124887003C>T	(Likely) benign	1 lab	ccec699a94
2:240036743 HDAC4 G>A	2	240036743	240036743	G	A	HDAC4	c.1776+6C>T	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240036743G>A	(Likely) benign	1 lab	ccec97c3fe
17:7751168 KDM6B A>C	17	7751168	7751168	A	C	KDM6B	c.1562A>C	NM_001080424.2	NP_001073893.1:p.(His521Pro)	NC_000017.10:g.7751168A>C	(Likely) benign	1 lab	ccf16adf06
7:70255352 AUTS2 G>A	7	70255352	70255352	G	A	AUTS2	c.3078G>A	NM_001127231.2	NP_001120703.1:p.(Met1026Ile)	NC_000007.13:g.70255352G>A	VUS	1 lab	ccf22db4c8
21:35208760 ITSN1 G>A	21	35208760	35208760	G	A	ITSN1	c.3470G>A	NM_001331010.1	NP_001317939.1:p.(Gly1157Glu)	NC_000021.8:g.35208760G>A	VUS	1 lab	ccf2685e4b
18:29488749 TRAPPC8 T>C	18	29488749	29488749	T	C	TRAPPC8	c.1090A>G	NM_014939.4	NP_055754.2:p.(Ile364Val)	NC_000018.9:g.29488749T>C	VUS	1 lab	ccf3e65181
16:15818040 MYH11 T>C	16	15818040	15818040	T	C	MYH11	c.4364A>G	NM_001040113.1	NP_001035202.1:p.(Lys1455Arg)	NC_000016.9:g.15818040T>C	VUS	1 lab	ccf3efc346
11:76901813 MYO7A G>A	11	76901813	76901813	G	A	MYO7A	c.3822G>A	NM_000260.3	NP_000251.3:p.(Thr1274=)	NC_000011.9:g.76901813G>A	VUS	1 lab	ccf5fb00e7
21:47557195 FTCD G>A	21	47557195	47557195	G	A	FTCD	c.1497C>T	NM_001320412.1	NP_001307341.1:p.(Leu499=)	NC_000021.8:g.47557195G>A	(Likely) benign	1 lab	ccf6cba4d1
6:70942385 COL9A1 C>T	6	70942385	70942385	C	T	COL9A1	c.2404G>A	NM_001851.4	NP_001842.3:p.(Gly802Ser)	NC_000006.11:g.70942385C>T	VUS	1 lab	ccf77b94d6
X:50129463 DGKK G>T	X	50129463	50129463	G	T	DGKK	c.2240C>A	NM_001013742.3	NP_001013764.1:p.(Pro747His)	NC_000023.10:g.50129463G>T	VUS	1 lab	ccf95e044c
6:35477531 TULP1 C>T	6	35477531	35477531	C	T	TULP1	c.602-4G>A	NM_003322.5	NP_003313.3:p.?	NC_000006.11:g.35477531C>T	(Likely) benign	1 lab	ccf9d83045
10:17061969 CUBN G>C	10	17061969	17061969	G	C	CUBN	c.4031C>G	NM_001081.3	NP_001072.2:p.(Pro1344Arg)	NC_000010.10:g.17061969G>C	VUS	1 lab	ccfa28d33f
6:72945350 RIMS1 G>A	6	72945350	72945350	G	A	RIMS1	c.1776G>A	NM_014989.5	NP_055804.2:p.(Glu592=)	NC_000006.11:g.72945350G>A	(Likely) benign	1 lab	ccfafcf2b8
10:81317022 SFTPA2 A>G	10	81317022	81317022	A	G	SFTPA2	c.720T>C	NM_001320814.1	NP_001307743.1:p.(Asp240=)	NC_000010.10:g.81317022A>G	(Likely) benign	1 lab	ccfb11a805
15:45405625 DUOX2 T>C	15	45405625	45405625	T	C	DUOX2	c.-14-2A>G	NM_014080.4	NP_054799.4:p.?	NC_000015.9:g.45405625T>C	VUS	1 lab	ccfb9b2123
12:118588826 TAOK3 A>T	12	118588826	118588826	A	T	TAOK3	c.2673T>A	NM_016281.3	NP_057365.3:p.(Asp891Glu)	NC_000012.11:g.118588826A>T	(Likely) benign	1 lab	ccff7ee3e0
21:47836122 PCNT T>C	21	47836122	47836122	T	C	PCNT	c.6290T>C	NM_006031.5	NP_006022.3:p.(Leu2097Pro)	NC_000021.8:g.47836122T>C	(Likely) benign	1 lab	cd0081b0bf
17:74936493 MGAT5B G>A	17	74936493	74936493	G	A	MGAT5B	c.1594G>A	NM_001199172.1	NP_001186101.1:p.(Gly532Arg)	NC_000017.10:g.74936493G>A	VUS	1 lab	cd04b374cd
X:153593798 FLNA G>T	X	153593798	153593798	G	T	FLNA	c.1486C>A	NM_001110556.2	NP_001104026.1:p.(Arg496=)	NC_000023.10:g.153593798G>T	(Likely) benign	1 lab	cd04d238ea
3:195254670 PPP1R2 C>CT	3	195254670	195254683	C	CT	PPP1R2	c.58dup	NM_001316325.1	NP_001303254.1:p.(Arg20LysfsTer43)	NC_000003.11:g.195254683dup	(Likely) benign	1 lab	cd0649f191
1:37949038 ZC3H12A G>A	1	37949038	37949038	G	A	ZC3H12A	c.804G>A	NM_001323551.1	NP_001310480.1:p.(Pro268=)	NC_000001.10:g.37949038G>A	(Likely) benign	1 lab	cd06d70a04
16:3304553 MEFV T>C	16	3304553	3304553	T	C	MEFV	c.515A>G	NM_000243.2	NP_000234.1:p.(Gln172Arg)	NC_000016.9:g.3304553T>C	VUS	1 lab	cd06e5a64d
21:47836654 PCNT G>A	21	47836654	47836654	G	A	PCNT	c.6822G>A	NM_006031.5	NP_006022.3:p.(Pro2274=)	NC_000021.8:g.47836654G>A	(Likely) benign	1 lab	cd08daf71b
17:71196808 COG1 A>AGT	17	71196808	71196809	A	AGT	COG1	c.1174_1175insGT	NM_018714.2	NP_061184.1:p.(Asn392SerfsTer27)	NC_000017.10:g.71196808_71196809insGT	VUS	1 lab	cd09d9f6f5
18:47566657 MYO5B G>A	18	47566657	47566657	G	A	MYO5B	c.166C>T	NM_001080467.2	NP_001073936.1:p.(Arg56Cys)	NC_000018.9:g.47566657G>A	(Likely) benign	1 lab	cd0a133943
1:204966475 NFASC C>T	1	204966475	204966475	C	T	NFASC	c.2960C>T	NM_001005388.2	NP_001005388.2:p.(Ala987Val)	NC_000001.10:g.204966475C>T	(Likely) benign	1 lab	cd0e40d4bb
13:60545301 DIAPH3 A>G	13	60545301	60545301	A	G	DIAPH3	c.1651-7T>C	NM_001042517.1	NP_001035982.1:p.?	NC_000013.10:g.60545301A>G	(Likely) benign	1 lab	cd0f9a6a41
4:184600503 TRAPPC11 C>A	4	184600503	184600503	C	A	TRAPPC11	c.832-3C>A	NM_021942.5	NP_068761.4:p.?	NC_000004.11:g.184600503C>A	VUS	1 lab	cd0fe6d43c
X:49063049 CACNA1F G>A	X	49063049	49063049	G	A	CACNA1F	c.5428C>T	NM_005183.3	NP_005174.2:p.(Arg1810Cys)	NC_000023.10:g.49063049G>A	(Likely) benign	1 lab	cd1214e837
16:30721282 SRCAP C>T	16	30721282	30721282	C	T	SRCAP	c.967C>T	NM_006662.2	NP_006653.2:p.(Leu323=)	NC_000016.9:g.30721282C>T	(Likely) benign	1 lab	cd13dc9d22
7:92151466 PEX1 C>T	7	92151466	92151466	C	T	PEX1	c.223G>A	NM_000466.2	NP_000457.1:p.(Glu75Lys)	NC_000007.13:g.92151466C>T	VUS	1 lab	cd1459acb1
2:200244975 SATB2 A>C	2	200244975	200244975	A	C	SATB2	c.597+112T>G	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200244975A>C	(Likely) benign	1 lab	cd1789fc3f
2:47612878 EPCAM G>A	2	47612878	47612878	G	A	EPCAM	c.903+529G>A	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47612878G>A	(Likely) benign	1 lab	b93f603f7d
11:77916912 USP35 C>A	11	77916912	77916912	C	A	USP35	c.1222C>A	NM_020798.4	NP_065849.1:p.(Arg408Ser)	NC_000011.9:g.77916912C>A	(Likely) benign	1 lab	cd180669ae
16:50659411 NKD1 G>A	16	50659411	50659411	G	A	NKD1	c.382G>A	NM_033119.5	NP_149110.1:p.(Val128Met)	NC_000016.9:g.50659411G>A	VUS	1 lab	cd1a664d0c
20:34060621 CEP250 C>T	20	34060621	34060621	C	T	CEP250	c.1174C>T	NM_007186.5	NP_009117.2:p.(Arg392Cys)	NC_000020.10:g.34060621C>T	VUS	1 lab	cd1adb5a51
3:46003869 FYCO1 G>A	3	46003869	46003869	G	A	FYCO1	c.3285C>T	NM_024513.3	NP_078789.2:p.(Leu1095=)	NC_000003.11:g.46003869G>A	(Likely) benign	1 lab	cd1b29a986
1:3103011 PRDM16 G>A	1	3103011	3103011	G	A	PRDM16	c.360G>A	NM_022114.3	NP_071397.3:p.(Ala120=)	NC_000001.10:g.3103011G>A	(Likely) benign	1 lab	cd1db4c3ea
17:1637348 WDR81 C>T	17	1637348	1637348	C	T	WDR81	c.5017C>T	NM_001163809.1	NP_001157281.1:p.(Arg1673Cys)	NC_000017.10:g.1637348C>T	VUS	1 lab	cd1e409f5d
1:209804045 LAMB3 G>A	1	209804045	209804045	G	A	LAMB3	c.858C>T	NM_001017402.1	NP_001017402.1:p.(Ala286=)	NC_000001.10:g.209804045G>A	(Likely) benign	1 lab	cd1f6e066d
X:12736659 FRMPD4 G>C	X	12736659	12736659	G	C	FRMPD4	c.3714G>C	NM_014728.3	NP_055543.2:p.(Pro1238=)	NC_000023.10:g.12736659G>C	(Likely) benign	1 lab	cd1fe30cc6
1:227174239 COQ8A GCAC>G	1	227174239	227174246	GCAC	G	COQ8A	c.1750_1752del	NM_020247.5	NP_064632.2:p.(Thr584del)	NC_000001.10:g.227174244_227174246del	(Likely) pathogenic	1 lab	cd21145a14
19:42862396 MEGF8 G>T	19	42862396	42862396	G	T	MEGF8	c.5112G>T	NM_001271938.2	NP_001258867.1:p.(Glu1704Asp)	NC_000019.9:g.42862396G>T	VUS	1 lab	cd230ebd87
7:128470844 FLNC G>A	7	128470844	128470844	G	A	FLNC	c.153G>A	NM_001458.4	NP_001449.3:p.(Lys51=)	NC_000007.13:g.128470844G>A	(Likely) benign	1 lab	cd2449c9cf
17:10442557 MYH2 C>T	17	10442557	10442557	C	T	MYH2	c.1381G>A	NM_001100112.1	NP_001093582.1:p.(Gly461Arg)	NC_000017.10:g.10442557C>T	VUS	1 lab	cd247bf4e3
1:198725049 PTPRC C>A	1	198725049	198725049	C	A	PTPRC	c.3660C>A	NM_002838.4	NP_002829.3:p.(Phe1220Leu)	NC_000001.10:g.198725049C>A	VUS	1 lab	cd24eb0a4e
17:29557276 NF1 A>C	17	29557276	29557276	A	C	NF1	c.2991-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557276A>C	(Likely) pathogenic	1 lab	cd25c9056c
8:54142213 OPRK1 G>A	8	54142213	54142213	G	A	OPRK1	c.520C>T	NM_001282904.1	NP_001269833.1:p.(Arg174Ter)	NC_000008.10:g.54142213G>A	VUS	1 lab	cd27744835
2:39187445 MISSING G>A	2	39187445	39187445	G	A	MISSING				NC_000002.11:g.39187445G>A	VUS	1 lab	cd27c6bed3
17:29670038 NF1 A>G	17	29670038	29670038	A	G	NF1	c.7011A>G	NM_000267.3	NP_000258.1:p.(Glu2337=)	NC_000017.10:g.29670038A>G	VUS	1 lab	cd2b1757e2
9:135152444 SETX T>TA	9	135152444	135152445	T	TA	SETX	c.6935+2dup	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135152445dup	(Likely) benign	1 lab	cd2c2361b5
7:72413535 POM121 A>AGCCCCG	7	72413535	72413543	A	AGCCCCG	POM121	c.2211_2216dup	NM_001257190.2	NP_001244119.1:p.(Pro738_Ala739dup)	NC_000007.13:g.72413538_72413543dup	VUS	1 lab	cd2e0188c3
17:66347801 ARSG G>A	17	66347801	66347801	G	A	ARSG	c.540G>A	NM_001352910.1	NP_001339839.1:p.(Ala180=)	NC_000017.10:g.66347801G>A	(Likely) benign	1 lab	cd2e4729fb
20:43936860 RBPJL G>A	20	43936860	43936860	G	A	RBPJL	c.100G>A	NM_001281448.1	NP_001268377.1:p.(Asp34Asn)	NC_000020.10:g.43936860G>A	(Likely) benign	1 lab	cd2f238644
17:29490201 NF1 T>C	17	29490201	29490201	T	C	NF1	c.289-3T>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29490201T>C	(Likely) benign	1 lab	cd2f911700
6:1611814 FOXC1 C>T	6	1611814	1611814	C	T	FOXC1	c.1134C>T	NM_001453.3	NP_001444.2:p.(Gly378=)	NC_000006.11:g.1611814C>T	(Likely) benign	1 lab	cd2f9a7743
16:31426219 ITGAD C>T	16	31426219	31426219	C	T	ITGAD	c.2193C>T	NM_001318185.1	NP_001305114.1:p.(His731=)	NC_000016.9:g.31426219C>T	(Likely) benign	1 lab	cd312d7223
22:21345922 LZTR1 C>G	22	21345922	21345922	C	G	LZTR1	c.797C>G	NM_006767.3	NP_006758.2:p.(Thr266Arg)	NC_000022.10:g.21345922C>G	VUS	1 lab	cd31f5d0d7
5:127624930 FBN2 G>A	5	127624930	127624930	G	A	FBN2	c.6526C>T	NM_001999.3	NP_001990.2:p.(Leu2176Phe)	NC_000005.9:g.127624930G>A	VUS	1 lab	cd330c3581
5:178421724 GRM6 G>A	5	178421724	178421724	G	A	GRM6	c.222C>T	NM_000843.4	NP_000834.2:p.(Tyr74=)	NC_000005.9:g.178421724G>A	(Likely) benign	1 lab	cd330f23df
1:980557 AGRN G>A	1	980557	980557	G	A	AGRN	c.1956G>A	NM_001364727.1	NP_001351656.1:p.(Pro652=)	NC_000001.10:g.980557G>A	(Likely) benign	1 lab	cd378adee0
X:38024079 SRPX A>G	X	38024079	38024079	A	G	SRPX	c.596T>C	NM_006307.4	NP_006298.1:p.(Val199Ala)	NC_000023.10:g.38024079A>G	(Likely) benign	1 lab	cd392c2912
17:8133762 CTC1 C>T	17	8133762	8133762	C	T	CTC1	c.2783G>A	NM_025099.6	NP_079375.3:p.(Cys928Tyr)	NC_000017.10:g.8133762C>T	VUS	1 lab	cd39c83da2
7:56172068 CHCHD2 G>A	7	56172068	56172068	G	A	CHCHD2	c.151C>T	NM_001320327.1	NP_001307256.1:p.(Arg51Trp)	NC_000007.13:g.56172068G>A	VUS	1 lab	cd3aa2cdef
3:132410062 NPHP3 T>G	3	132410062	132410062	T	G	NPHP3	c.2544A>C	NM_153240.4	NP_694972.3:p.(Leu848=)	NC_000003.11:g.132410062T>G	(Likely) benign	1 lab	cd3bf371ca
11:67816757 TCIRG1 G>A	11	67816757	67816757	G	A	TCIRG1	c.989G>A	NM_001351059.1	NP_001337988.1:p.(Arg330Gln)	NC_000011.9:g.67816757G>A	VUS	1 lab	cd3d3ae494
8:48690395 PRKDC C>T	8	48690395	48690395	C	T	PRKDC	c.11894G>A	NM_006904.6	NP_008835.5:p.(Arg3965His)	NC_000008.10:g.48690395C>T	VUS	1 lab	cd400ebdb0
18:55253784 FECH A>C	18	55253784	55253784	A	C	FECH				NC_000018.9:g.55253784A>C	(Likely) pathogenic	1 lab	cd413ad402
19:11106881 SMARCA4 T>C	19	11106881	11106881	T	C	SMARCA4	c.1594-8T>C	NM_001128844.1	NP_001122316.1:p.?	NC_000019.9:g.11106881T>C	(Likely) benign	1 lab	cd420e5929
22:26995559 CRYBB1 C>T	22	26995559	26995559	C	T	CRYBB1	c.654G>A	NM_001887.4	NP_001878.1:p.(Glu218=)	NC_000022.10:g.26995559C>T	(Likely) benign	1 lab	cd432b9cfa
15:28326976 OCA2 C>T	15	28326976	28326976	C	T	OCA2	c.45G>A	NM_000275.2	NP_000266.2:p.(Pro15=)	NC_000015.9:g.28326976C>T	(Likely) benign	1 lab	cd43942ed9
1:197059133 ASPM C>T	1	197059133	197059133	C	T	ASPM	c.9911G>A	NM_018136.4	NP_060606.3:p.(Arg3304Gln)	NC_000001.10:g.197059133C>T	VUS	1 lab	cd43c57ebb
14:23994728 ZFHX2 C>T	14	23994728	23994728	C	T	ZFHX2	c.4423G>A	NM_033400.3	NP_207646.2:p.(Gly1475Arg)	NC_000014.8:g.23994728C>T	(Likely) benign	1 lab	cd4448ccab
16:89348801 ANKRD11 G>A	16	89348801	89348801	G	A	ANKRD11	c.4149C>T	NM_001256182.1	NP_001243111.1:p.(Gly1383=)	NC_000016.9:g.89348801G>A	(Likely) benign	1 lab	cd44dbf942
18:56203447 ALPK2 A>G	18	56203447	56203447	A	G	ALPK2	c.3972T>C	NM_052947.4	NP_443179.3:p.(His1324=)	NC_000018.9:g.56203447A>G	(Likely) benign	1 lab	cd470a0d92
16:2129197 TSC2 G>T	16	2129197	2129197	G	T	TSC2	c.3131G>T	NM_000548.3	NP_000539.2:p.(Arg1044Met)	NC_000016.9:g.2129197G>T	(Likely) pathogenic	1 lab	cd4b2f2193
19:4493979 HDGFL2 C>T	19	4493979	4493979	C	T	HDGFL2	c.839C>T	NM_001001520.3	NP_001001520.1:p.(Ala280Val)	NC_000019.9:g.4493979C>T	(Likely) benign	1 lab	cd4b71db10
17:76128069 TMC8 C>G	17	76128069	76128069	C	G	TMC8	c.256C>G	NM_152468.4	NP_689681.2:p.(Arg86Gly)	NC_000017.10:g.76128069C>G	(Likely) benign	1 lab	cd4b8e84ad
22:17583106 IL17RA G>C	22	17583106	17583106	G	C	IL17RA	c.676G>C	NM_014339.6	NP_055154.3:p.(Glu226Gln)	NC_000022.10:g.17583106G>C	VUS	1 lab	cd4c9b7d60
4:84191027 COQ2 T>C	4	84191027	84191027	T	C	COQ2	c.898A>G	NM_015697.8	NP_056512.5:p.(Ile300Val)	NC_000004.11:g.84191027T>C	VUS	1 lab	cd4d81b90c
7:16460833 CRPPA C>T	7	16460833	16460833	C	T	CRPPA	c.115G>A	NM_001101426.3	NP_001094896.1:p.(Glu39Lys)	NC_000007.13:g.16460833C>T	VUS	1 lab	cd4e4bce02
X:43542864 MAOA TTTTAA>T	X	43542864	43542870	TTTTAA	T	MAOA	c.168+11_168+15del	NM_000240.4	NP_000231.1:p.?	NC_000023.10:g.43542866_43542870del	(Likely) benign	1 lab	cd50fd272f
12:80935506 MISSING C>G	12	80935506	80935506	C	G	MISSING				NC_000012.11:g.80935506C>G	VUS	1 lab	cd55f54100
7:27827088 TAX1BP1 C>T	7	27827088	27827088	C	T	TAX1BP1	c.904C>T	NM_006024.6	NP_006015.4:p.(Gln302Ter)	NC_000007.13:g.27827088C>T	(Likely) pathogenic	1 lab	cd577c4c75
16:74339360 PSMD7 A>G	16	74339360	74339360	A	G	PSMD7	c.704A>G	NM_002811.5	NP_002802.2:p.(Asn235Ser)	NC_000016.9:g.74339360A>G	VUS	1 lab	cd57cbb237
9:136535834 SARDH G>C	9	136535834	136535834	G	C	SARDH	c.2367C>G	NM_007101.3	NP_009032.2:p.(Ser789Arg)	NC_000009.11:g.136535834G>C	VUS	1 lab	cd599903c4
4:103595231 MANBA C>T	4	103595231	103595231	C	T	MANBA	c.961-4G>A	NM_005908.3	NP_005899.3:p.?	NC_000004.11:g.103595231C>T	(Likely) benign	1 lab	cd59bb1315
22:38121555 TRIOBP G>A	22	38121555	38121555	G	A	TRIOBP	c.2992G>A	NM_001039141.2	NP_001034230.1:p.(Ala998Thr)	NC_000022.10:g.38121555G>A	(Likely) benign	1 lab	cd59bb3878
9:117165619 WHRN G>C	9	117165619	117165619	G	C	WHRN	c.2419C>G	NM_015404.3	NP_056219.3:p.(Pro807Ala)	NC_000009.11:g.117165619G>C	VUS	1 lab	cd5a30b9ac
7:94059577 COL1A2 G>T	7	94059577	94059577	G	T	COL1A2	c.3973G>T	NM_000089.3	NP_000080.2:p.(Gly1325Ter)	NC_000007.13:g.94059577G>T	(Likely) pathogenic	1 lab	cd5b3031df
6:143092432 HIVEP2 C>G	6	143092432	143092432	C	G	HIVEP2	c.3444G>C	NM_006734.3	NP_006725.3:p.(Ser1148=)	NC_000006.11:g.143092432C>G	(Likely) benign	1 lab	cd5d2e0120
7:106938662 COG5 G>A	7	106938662	106938662	G	A	COG5	c.1331C>T	NM_001161520.1	NP_001154992.1:p.(Thr444Ile)	NC_000007.13:g.106938662G>A	(Likely) benign	1 lab	cd5ee838fe
19:34857682 GPI T>C	19	34857682	34857682	T	C	GPI	c.331-6T>C	NM_001289789.1	NP_001276718.1:p.?	NC_000019.9:g.34857682T>C	(Likely) benign	1 lab	cd5ef1ec5b
16:85698620 GSE1 G>C	16	85698620	85698620	G	C	GSE1	c.2645-1G>C	NM_014615.4	NP_055430.1:p.?	NC_000016.9:g.85698620G>C	VUS	1 lab	cd60fbc743
19:9084641 MUC16 T>C	19	9084641	9084641	T	C	MUC16	c.7174A>G	NM_024690.2	NP_078966.2:p.(Ser2392Gly)	NC_000019.9:g.9084641T>C	(Likely) benign	1 lab	cd67743e9b
11:2426206 TRPM5 C>T	11	2426206	2426206	C	T	TRPM5	c.3459G>A	NM_014555.3	NP_055370.1:p.(Trp1153Ter)	NC_000011.9:g.2426206C>T	VUS	1 lab	cd67a95e08
2:73835682 ALMS1 G>A	2	73835682	73835682	G	A	ALMS1	c.12446G>A	NM_015120.4	NP_055935.4:p.(Arg4149Gln)	NC_000002.11:g.73835682G>A	VUS	1 lab	cd68339451
12:31242358 DDX11 G>A	12	31242358	31242358	G	A	DDX11	c.814G>A	NM_030653.3	NP_085911.2:p.(Val272Met)	NC_000012.11:g.31242358G>A	(Likely) benign	1 lab	cd69e2c8f2
7:151877128 KMT2C T>C	7	151877128	151877128	T	C	KMT2C	c.7233A>G	NM_170606.2	NP_733751.2:p.(Ser2411=)	NC_000007.13:g.151877128T>C	(Likely) benign	1 lab	cd69f393c8
2:45169963 SIX3 G>T	2	45169963	45169963	G	T	SIX3	c.720G>T	NM_005413.3	NP_005404.1:p.(Ala240=)	NC_000002.11:g.45169963G>T	(Likely) benign	1 lab	cd6a221481
11:92565120 FAT3 A>T	11	92565120	92565120	A	T	FAT3	c.9814A>T	NM_001008781.2	NP_001008781.2:p.(Thr3272Ser)	NC_000011.9:g.92565120A>T	VUS	1 lab	cd6a5c0892
10:95079643 MYOF T>TAC	10	95079643	95079646	T	TAC	MYOF	c.5582_5583dup	NM_013451.4	NP_038479.1:p.(Ile1862ValfsTer23)	NC_000010.10:g.95079645_95079646dup	VUS	1 lab	cd6aedcc63
X:153175843 ARHGAP4 G>A	X	153175843	153175843	G	A	ARHGAP4	c.2058C>T	NM_001164741.1	NP_001158213.1:p.(Ser686=)	NC_000023.10:g.153175843G>A	(Likely) benign	1 lab	cd6b63ad23
X:53349979 IQSEC2 C>A	X	53349979	53349979	C	A	IQSEC2	c.343G>T	NM_001111125.2	NP_001104595.1:p.(Gly115Cys)	NC_000023.10:g.53349979C>A	VUS	1 lab	cd6c3e26ae
8:87638279 CNGB3 T>C	8	87638279	87638279	T	C	CNGB3	c.1510A>G	NM_019098.4	NP_061971.3:p.(Thr504Ala)	NC_000008.10:g.87638279T>C	VUS	1 lab	cd6c4bdb24
12:57431331 MYO1A CA>AG	12	57431331	57431332	CA	AG	MYO1A	c.2055_2055+1delinsCT	NM_001256041.1	NP_001242970.1:p.?	NC_000012.11:g.57431331_57431332delinsAG	(Likely) pathogenic	1 lab	cd6caeddf4
17:19250617 B9D1 G>T	17	19250617	19250617	G	T	B9D1	c.428C>A	NM_001243473.1	NP_001230402.1:p.(Ser143Tyr)	NC_000017.10:g.19250617G>T	(Likely) benign	1 lab	cd6d6a6a66
14:74951000 NPC2 T>TCTG	14	74951000	74951003	T	TCTG	NPC2	c.363+117_363+118insCAG	NM_006432.4	NP_006423.1:p.?	NC_000014.8:g.74951002_74951003insGCT	(Likely) benign	1 lab	cd6f14dfc1
X:19373571 PDHA1 G>A	X	19373571	19373571	G	A	PDHA1	c.822G>A	NM_001173454.1	NP_001166925.1:p.(Ala274=)	NC_000023.10:g.19373571G>A	(Likely) benign	1 lab	cd737dbf1e
4:22456492 ADGRA3 C>T	4	22456492	22456492	C	T	ADGRA3	c.470G>A	NM_145290.3	NP_660333.2:p.(Arg157Gln)	NC_000004.11:g.22456492C>T	VUS	1 lab	cd747a34ca
7:33192405 BBS9 C>A	7	33192405	33192405	C	A	BBS9	c.205C>A	NM_198428.2	NP_940820.1:p.(Leu69Ile)	NC_000007.13:g.33192405C>A	VUS	1 lab	cd74b8e325
X:48207029 SSX3 C>A	X	48207029	48207029	C	A	SSX3	c.477G>T	NM_021014.3	NP_066294.1:p.(Arg159Ser)	NC_000023.10:g.48207029C>A	(Likely) benign	1 lab	cd7750bd14
12:85279259 SLC6A15 G>A	12	85279259	85279259	G	A	SLC6A15	c.529C>T	NM_182767.6	NP_877499.1:p.(Leu177=)	NC_000012.11:g.85279259G>A	(Likely) benign	1 lab	cd77a13f99
X:53569492 HUWE1 A>G	X	53569492	53569492	A	G	HUWE1	c.11388T>C	NM_031407.6	NP_113584.3:p.(Ser3796=)	NC_000023.10:g.53569492A>G	(Likely) benign	1 lab	cd7c06a92d
20:33568515 MYH7B C>T	20	33568515	33568515	C	T	MYH7B	c.603C>T	NM_020884.4	NP_065935.3:p.(Asn201=)	NC_000020.10:g.33568515C>T	(Likely) benign	1 lab	cd7c97e924
20:34022312 GDF5 G>A	20	34022312	34022312	G	A	GDF5	c.901C>T	NM_000557.4	NP_000548.2:p.(Arg301Ter)	NC_000020.10:g.34022312G>A	(Likely) pathogenic	1 lab	cd7f99ddd4
11:67222962 CABP4 C>T	11	67222962	67222962	C	T	CABP4	c.68C>T	NM_145200.3	NP_660201.1:p.(Ala23Val)	NC_000011.9:g.67222962C>T	(Likely) benign	1 lab	cd814b2135
X:53350290 IQSEC2 G>A	X	53350290	53350290	G	A	IQSEC2	c.32C>T	NM_001111125.2	NP_001104595.1:p.(Pro11Leu)	NC_000023.10:g.53350290G>A	VUS	1 lab	cd820b2592
6:31910760 C2 AGCTG>A	6	31910760	31910765	AGCTG	A	C2	c.1246_1249del	NM_000063.6	NP_000054.2:p.(Leu416MetfsTer7)	NC_000006.11:g.31910762_31910765del	(Likely) pathogenic	1 lab	cd8286f081
X:50213436 DGKK G>C	X	50213436	50213436	G	C	DGKK	c.242C>G	NM_001013742.3	NP_001013764.1:p.(Pro81Arg)	NC_000023.10:g.50213436G>C	VUS	1 lab	cd84297f23
1:169697014 SELE T>G	1	169697014	169697014	T	G	SELE	c.1334A>C	NM_000450.2	NP_000441.2:p.(His445Pro)	NC_000001.10:g.169697014T>G	VUS	1 lab	cd84447abd
3:49060411 NDUFAF3 T>G	3	49060411	49060411	T	G	NDUFAF3	c.438+2T>G	NM_199069.1	NP_951032.1:p.?	NC_000003.11:g.49060411T>G	(Likely) pathogenic	1 lab	cd84ca9734
7:44153484 AEBP1 G>A	7	44153484	44153484	G	A	AEBP1	c.3101G>A	NM_001129.4	NP_001120.3:p.(Arg1034Gln)	NC_000007.13:g.44153484G>A	VUS	1 lab	cd88b840df
2:38298419 CYP1B1 A>G	2	38298419	38298419	A	G	CYP1B1	c.1078T>C	NM_000104.3	NP_000095.2:p.(Leu360=)	NC_000002.11:g.38298419A>G	(Likely) benign	1 lab	cd89840d9d
17:29554205 NF1 A>T	17	29554205	29554205	A	T	NF1	c.2252-31A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29554205A>T	(Likely) benign	1 lab	cd8c66c50f
15:49048198 CEP152 A>C	15	49048198	49048198	A	C	CEP152	c.3247T>G	NM_001194998.1	NP_001181927.1:p.(Ser1083Ala)	NC_000015.9:g.49048198A>C	VUS	1 lab	cd8c808230
9:14737413 FREM1 A>G	9	14737413	14737413	A	G	FREM1	c.6521T>C	NM_144966.5	NP_659403.4:p.(Val2174Ala)	NC_000009.11:g.14737413A>G	VUS	1 lab	cd8c8273f0
1:3756324 CEP104 A>C	1	3756324	3756324	A	C	CEP104	c.583T>G	NM_014704.3	NP_055519.1:p.(Ser195Ala)	NC_000001.10:g.3756324A>C	VUS	1 lab	cd900e8757
X:70817887 GCNA C>T	X	70817887	70817887	C	T	GCNA	c.309C>T	NM_052957.4	NP_443189.1:p.(Asp103=)	NC_000023.10:g.70817887C>T	(Likely) benign	1 lab	cd929ecf1c
17:76115394 TMC6 C>A	17	76115394	76115394	C	A	TMC6	c.1795G>T	NM_001127198.2	NP_001120670.1:p.(Gly599Trp)	NC_000017.10:g.76115394C>A	VUS	1 lab	cd94623e06
21:46896377 COL18A1 C>T	21	46896377	46896377	C	T	COL18A1	c.2156C>T	NM_130444.3	NP_569711.2:p.(Thr719Met)	NC_000021.8:g.46896377C>T	(Likely) benign	1 lab	cd972b0cee
10:16878309 CUBN T>C	10	16878309	16878309	T	C	CUBN	c.10105A>G	NM_001081.3	NP_001072.2:p.(Ser3369Gly)	NC_000010.10:g.16878309T>C	(Likely) benign	1 lab	cd9fdcbfbb
3:193385012 OPA1 G>T	3	193385012	193385012	G	T	OPA1	c.2926G>T	NM_130837.2	NP_570850.2:p.(Gly976Cys)	NC_000003.11:g.193385012G>T	VUS	1 lab	cda0504c3d
1:85498446 MCOLN3 A>T	1	85498446	85498446	A	T	MCOLN3	c.665T>A	NM_018298.11	NP_060768.8:p.(Leu222Gln)	NC_000001.10:g.85498446A>T	VUS	1 lab	cda27a3c42
14:64449425 SYNE2 C>T	14	64449425	64449425	C	T	SYNE2	c.1914C>T	NM_182914.2	NP_878918.2:p.(Val638=)	NC_000014.8:g.64449425C>T	(Likely) benign	1 lab	cda2ff3919
6:31933735 SKIC2 T>C	6	31933735	31933735	T	C	SKIC2	c.2147T>C	NM_006929.4	NP_008860.4:p.(Ile716Thr)	NC_000006.11:g.31933735T>C	VUS	1 lab	cda44232f2
2:211532959 CPS1 T>G	2	211532959	211532959	T	G	CPS1	c.4052T>G	NM_001875.4	NP_001866.2:p.(Leu1351Arg)	NC_000002.11:g.211532959T>G	VUS	1 lab	cda44c96a6
19:45918245 ERCC1 G>A	19	45918245	45918245	G	A	ERCC1	c.603-27C>T	NM_001983.3	NP_001974.1:p.?	NC_000019.9:g.45918245G>A	(Likely) benign	1 lab	cda5c6aa51
6:122772876 SERINC1 C>A	6	122772876	122772876	C	A	SERINC1	c.783G>T	NM_020755.4	NP_065806.1:p.(Leu261Phe)	NC_000006.11:g.122772876C>A	VUS	1 lab	cda7370611
2:220476697 STK11IP C>T	2	220476697	220476697	C	T	STK11IP	c.2356C>T	NM_052902.4	NP_443134.3:p.(Arg786Cys)	NC_000002.11:g.220476697C>T	VUS	1 lab	cdaa076adb
2:179454373 TTN G>A	2	179454373	179454373	G	A	TTN	c.62079C>T	NM_001267550.1	NP_001254479.1:p.(Asp20693=)	NC_000002.11:g.179454373G>A	(Likely) benign	1 lab	cdaa52782e
10:99236613 MMS19 T>G	10	99236613	99236613	T	G	MMS19	c.601A>C	NM_022362.5	NP_071757.4:p.(Ile201Leu)	NC_000010.10:g.99236613T>G	VUS	1 lab	cdaa785c48
19:41122881 LTBP4 G>C	19	41122881	41122881	G	C	LTBP4	c.3100G>C	NM_001042544.1	NP_001036009.1:p.(Ala1034Pro)	NC_000019.9:g.41122881G>C	VUS	1 lab	cdaa8033d2
11:105881188 MSANTD4 G>A	11	105881188	105881188	G	A	MSANTD4	c.457C>T	NM_032424.3	NP_115800.1:p.(Pro153Ser)	NC_000011.9:g.105881188G>A	(Likely) benign	1 lab	cdad40751c
17:42985468 GFAP G>A	17	42985468	42985468	G	A	GFAP	c.1221C>T	NM_002055.4	NP_002046.1:p.(Asn407=)	NC_000017.10:g.42985468G>A	(Likely) benign	1 lab	cdae312851
2:112722801 MERTK C>G	2	112722801	112722801	C	G	MERTK	c.791C>G	NM_006343.2	NP_006334.2:p.(Ala264Gly)	NC_000002.11:g.112722801C>G	VUS	1 lab	cdae899b87
12:22061101 ABCC9 A>G	12	22061101	22061101	A	G	ABCC9	c.1365T>C	NM_020297.2	NP_064693.2:p.(Ser455=)	NC_000012.11:g.22061101A>G	(Likely) benign	1 lab	cdaf85886e
8:17491723 PDGFRL G>T	8	17491723	17491723	G	T	PDGFRL	c.939+1G>T	NM_006207.2	NP_006198.1:p.?	NC_000008.10:g.17491723G>T	VUS	1 lab	cdb13c971f
22:26242129 MYO18B C>T	22	26242129	26242129	C	T	MYO18B	c.3434C>T	NM_001318245.1	NP_001305174.1:p.(Ala1145Val)	NC_000022.10:g.26242129C>T	VUS	1 lab	cdb146df14
4:959748 DGKQ C>G	4	959748	959748	C	G	DGKQ	c.1547G>C	NM_001347.4	NP_001338.2:p.(Ser516Thr)	NC_000004.11:g.959748C>G	(Likely) benign	1 lab	cdb14d2349
8:41504115 NKX6-3 T>G	8	41504115	41504115	T	G	NKX6-3	c.261A>C	NM_152568.3	NP_689781.1:p.(Ala87=)	NC_000008.10:g.41504115T>G	(Likely) benign	1 lab	cdb3031d12
16:70937810 HYDIN G>C	16	70937810	70937810	G	C	HYDIN	c.8674C>G	NM_001270974.2	NP_001257903.1:p.(Gln2892Glu)	NC_000016.9:g.70937810G>C	VUS	1 lab	cdb3eec204
19:37211253 ZNF567 C>T	19	37211253	37211253	C	T	ZNF567	c.1627C>T	NM_001322914.1	NP_001309843.1:p.(Arg543Cys)	NC_000019.9:g.37211253C>T	VUS	1 lab	cdb768b8b8
7:51258773 COBL T>C	7	51258773	51258773	T	C	COBL	c.459A>G	NM_001287436.2	NP_001274365.1:p.(Lys153=)	NC_000007.13:g.51258773T>C	(Likely) benign	1 lab	cdbf53bcda
17:1640958 WDR81 G>T	17	1640958	1640958	G	T	WDR81	c.5805G>T	NM_001163809.1	NP_001157281.1:p.(Gly1935=)	NC_000017.10:g.1640958G>T	(Likely) benign	1 lab	cdc12d8b42
10:49414969 FRMPD2 T>C	10	49414969	49414969	T	C	FRMPD2	c.1619A>G	NM_001018071.4	NP_001018081.4:p.(Gln540Arg)	NC_000010.10:g.49414969T>C	VUS	1 lab	cdc294e659
11:121391474 SORL1 G>A	11	121391474	121391474	G	A	SORL1	c.1320G>A	NM_003105.5	NP_003096.1:p.(Ser440=)	NC_000011.9:g.121391474G>A	(Likely) benign	1 lab	cdc56406df
4:85781678 WDFY3 A>G	4	85781678	85781678	A	G	WDFY3	c.67T>C	NM_014991.4	NP_055806.2:p.(Leu23=)	NC_000004.11:g.85781678A>G	(Likely) benign	1 lab	cdc5f568ba
2:170349447 BBS5 G>A	2	170349447	170349447	G	A	BBS5	c.450G>A	NM_152384.2	NP_689597.1:p.(Lys150=)	NC_000002.11:g.170349447G>A	(Likely) benign	1 lab	cdc72b30b3
9:77427237 TRPM6 C>T	9	77427237	77427237	C	T	TRPM6	c.1421G>A	NM_017662.4	NP_060132.3:p.(Arg474Gln)	NC_000009.11:g.77427237C>T	VUS	1 lab	cdcaa2537f
X:46388286 ZNF674 A>C	X	46388286	46388286	A	C	ZNF674	c.74T>G	NM_001039891.2	NP_001034980.1:p.(Leu25Arg)	NC_000023.10:g.46388286A>C	(Likely) benign	1 lab	cdcb9ce6ae
X:77284768 ATP7A C>T	X	77284768	77284768	C	T	ATP7A	c.2938C>T	NM_000052.6	NP_000043.4:p.(Arg980Ter)	NC_000023.10:g.77284768C>T	(Likely) pathogenic	1 lab	cdcbcea4f2
3:172533394 ECT2 G>T	3	172533394	172533394	G	T	ECT2	c.2398G>T	NM_001349097.1	NP_001336026.1:p.(Glu800Ter)	NC_000003.11:g.172533394G>T	VUS	1 lab	cdcc3b5159
7:45108146 CCM2 TGCTGC>T	7	45108146	45108151	TGCTGC	T	CCM2	c.578_582del	NM_031443.4	NP_113631.1:p.(Cys193SerfsTer41)	NC_000007.13:g.45108147_45108151del	(Likely) pathogenic	1 lab	cdce4f1641
15:62264862 VPS13C C>T	15	62264862	62264862	C	T	VPS13C	c.2719G>A	NM_001018088.2	NP_001018098.1:p.(Glu907Lys)	NC_000015.9:g.62264862C>T	VUS	1 lab	cdd2a1db30
16:88893230 GALNS C>T	16	88893230	88893230	C	T	GALNS	c.1019G>A	NM_000512.4	NP_000503.1:p.(Gly340Asp)	NC_000016.9:g.88893230C>T	(Likely) pathogenic	1 lab	cdd2b149a1
19:18174753 IL12RB1 C>T	19	18174753	18174753	C	T	IL12RB1	c.1671G>A	NM_001290024.1	NP_001276953.1:p.(Thr557=)	NC_000019.9:g.18174753C>T	(Likely) benign	1 lab	cdd2ca6c17
5:168671780 SLIT3 C>T	5	168671780	168671780	C	T	SLIT3	c.270G>A	NM_001271946.1	NP_001258875.1:p.(Leu90=)	NC_000005.9:g.168671780C>T	(Likely) benign	1 lab	cdd2dd43cd
11:108409802 EXPH5 A>T	11	108409802	108409802	A	T	EXPH5	c.392T>A	NM_015065.3	NP_055880.2:p.(Phe131Tyr)	NC_000011.9:g.108409802A>T	VUS	1 lab	cdd321bd3c
3:8787374 CAV3 G>T	3	8787374	8787374	G	T	CAV3	c.277G>T	NM_033337.2	NP_203123.1:p.(Ala93Ser)	NC_000003.11:g.8787374G>T	VUS	1 lab	cdd355c2e3
19:7125395 INSR G>A	19	7125395	7125395	G	A	INSR	c.3157C>T	NM_000208.3	NP_000199.2:p.(Arg1053Cys)	NC_000019.9:g.7125395G>A	VUS	1 lab	cdd46d94b0
X:148797843 MAGEA11 T>C	X	148797843	148797843	T	C	MAGEA11	c.697T>C	NM_005366.5	NP_005357.2:p.(Leu233=)	NC_000023.10:g.148797843T>C	(Likely) benign	1 lab	cdd482488a
15:31362148 TRPM1 C>G	15	31362148	31362148	C	G	TRPM1	c.299G>C	NM_001252030.1	NP_001238959.1:p.(Gly100Ala)	NC_000015.9:g.31362148C>G	(Likely) benign	1 lab	cdd51f5ecd
2:74072364 STAMBP A>G	2	74072364	74072364	A	G	STAMBP	c.350A>G	NM_213622.4	NP_998787.1:p.(Glu117Gly)	NC_000002.11:g.74072364A>G	VUS	1 lab	cdd559eaf5
8:145741938 RECQL4 C>T	8	145741938	145741938	C	T	RECQL4	c.565G>A	NM_004260.3	NP_004251.3:p.(Gly189Ser)	NC_000008.10:g.145741938C>T	(Likely) benign	1 lab	cdd7a21db7
2:179480471 TTN A>T	2	179480471	179480471	A	T	TTN	c.48357T>A	NM_001267550.1	NP_001254479.1:p.(Leu16119=)	NC_000002.11:g.179480471A>T	(Likely) benign	1 lab	cdd825746c
2:45169591 SIX3 C>T	2	45169591	45169591	C	T	SIX3	c.348C>T	NM_005413.3	NP_005404.1:p.(Pro116=)	NC_000002.11:g.45169591C>T	(Likely) benign	1 lab	cdd89f30a8
22:50660498 TUBGCP6 G>A	22	50660498	50660498	G	A	TUBGCP6	c.2443C>T	NM_020461.3	NP_065194.2:p.(Pro815Ser)	NC_000022.10:g.50660498G>A	VUS	1 lab	cdda40463a
16:67964335 CTRL C>T	16	67964335	67964335	C	T	CTRL	c.475G>A	NM_001907.3	NP_001898.1:p.(Gly159Ser)	NC_000016.9:g.67964335C>T	VUS	1 lab	021c251d53
1:85488030 MCOLN3 G>A	1	85488030	85488030	G	A	MCOLN3	c.1149C>T	NM_018298.11	NP_060768.8:p.(Leu383=)	NC_000001.10:g.85488030G>A	(Likely) benign	1 lab	cddae0a77f
12:111072208 TCTN1 G>A	12	111072208	111072208	G	A	TCTN1	c.720G>A	NM_024549.5	NP_078825.2:p.(Ala240=)	NC_000012.11:g.111072208G>A	(Likely) benign	1 lab	cddb163a70
17:40474402 STAT3 C>A	17	40474402	40474402	C	A	STAT3	c.1999G>T	NM_139276.2	NP_644805.1:p.(Val667Leu)	NC_000017.10:g.40474402C>A	VUS	1 lab	cde7dc8845
3:197408057 RUBCN G>A	3	197408057	197408057	G	A	RUBCN	c.2238C>T	NM_001145642.4	NP_001139114.1:p.(Asn746=)	NC_000003.11:g.197408057G>A	(Likely) benign	1 lab	cddddd5265
2:186678579 FSIP2 T>G	2	186678579	186678579	T	G	FSIP2	c.20135T>G	NM_173651.3	NP_775922.3:p.(Phe6712Cys)	NC_000002.11:g.186678579T>G	VUS	1 lab	cddedd6c1d
9:138657595 KCNT1 C>A	9	138657595	138657595	C	A	KCNT1	c.1326C>A	NM_020822.2	NP_065873.2:p.(Leu442=)	NC_000009.11:g.138657595C>A	(Likely) benign	1 lab	cddff14490
22:51159293 MISSING G>T	22	51159293	51159293	G	T	MISSING				NC_000022.10:g.51159293G>T	VUS	1 lab	cde0afba6d
19:13397561 CACNA1A G>A	19	13397561	13397561	G	A	CACNA1A	c.3321C>T	NM_023035.2	NP_075461.2:p.(Pro1107=)	NC_000019.9:g.13397561G>A	(Likely) benign	1 lab	cde2b04e3e
2:238275436 COL6A3 G>A	2	238275436	238275436	G	A	COL6A3	c.5394C>T	NM_004369.3	NP_004360.2:p.(Arg1798=)	NC_000002.11:g.238275436G>A	(Likely) benign	1 lab	cde2e68bc9
2:219527934 BCS1L C>G	2	219527934	219527934	C	G	BCS1L	c.1085C>G	NM_004328.4	NP_004319.1:p.(Thr362Ser)	NC_000002.11:g.219527934C>G	(Likely) benign	1 lab	cde33527f5
X:54985299 PFKFB1 T>C	X	54985299	54985299	T	C	PFKFB1	c.444A>G	NM_002625.3	NP_002616.2:p.(Lys148=)	NC_000023.10:g.54985299T>C	(Likely) benign	1 lab	cde3f971f9
17:10323400 MYH8 AGG>A	17	10323400	10323402	AGG	A	MYH8	c.143_144del	NM_002472.3	NP_002463.2:p.(Ser48LeufsTer19)	NC_000017.10:g.10323401_10323402del	VUS	1 lab	cde49ae736
5:90052374 ADGRV1 GA>G	5	90052374	90052376	GA	G	ADGRV1	c.11686del	NM_032119.4	NP_115495.3:p.(Met3896TrpfsTer3)	NC_000005.9:g.90052376del	(Likely) pathogenic	1 lab	cde63cf1f3
X:57405211 FAAH2 G>C	X	57405211	57405211	G	C	FAAH2	c.870G>C	NM_174912.3	NP_777572.2:p.(Gly290=)	NC_000023.10:g.57405211G>C	(Likely) benign	1 lab	cde68e5eda
1:197091550 ASPM G>A	1	197091550	197091550	G	A	ASPM	c.3566C>T	NM_018136.4	NP_060606.3:p.(Ser1189Phe)	NC_000001.10:g.197091550G>A	VUS	1 lab	cde6b39d09
X:22245695 PHEX C>T	X	22245695	22245695	C	T	PHEX	c.2037C>T	NM_000444.5	NP_000435.3:p.(Thr679=)	NC_000023.10:g.22245695C>T	(Likely) benign	1 lab	cde855843b
1:154310064 ATP8B2 G>A	1	154310064	154310064	G	A	ATP8B2	c.1078G>A	NM_001005855.1	NP_001005855.1:p.(Gly360Ser)	NC_000001.10:g.154310064G>A	VUS	1 lab	cde90f572b
1:109814081 CELSR2 A>G	1	109814081	109814081	A	G	CELSR2	c.7750A>G	NM_001408.2	NP_001399.1:p.(Asn2584Asp)	NC_000001.10:g.109814081A>G	VUS	1 lab	cde91ef76f
20:23030011 THBD G>A	20	23030011	23030011	G	A	THBD	c.131C>T	NM_000361.2	NP_000352.1:p.(Thr44Ile)	NC_000020.10:g.23030011G>A	(Likely) benign	1 lab	cde9c7d5ec
2:73679220 ALMS1 C>G	2	73679220	73679220	C	G	ALMS1	c.5569C>G	NM_015120.4	NP_055935.4:p.(His1857Asp)	NC_000002.11:g.73679220C>G	VUS	1 lab	cdea6b9e7f
7:42005124 GLI3 GCCGCGGCCCA>G	7	42005124	42005135	GCCGCGGCCCA	G	GLI3	c.3537_3546del	NM_000168.6	NP_000159.3:p.(Gly1180ProfsTer23)	NC_000007.13:g.42005126_42005135del	(Likely) pathogenic	1 lab	cdef9b40df
10:93221021 HECTD2 G>C	10	93221021	93221021	G	C	HECTD2	c.418G>C	NM_001284274.2	NP_001271203.1:p.(Glu140Gln)	NC_000010.10:g.93221021G>C	VUS	1 lab	cdf18c9e18
13:32971285 BRCA2 AT>A	13	32971285	32971287	AT	A	BRCA2	c.9648+106del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32971287del	(Likely) benign	1 lab	cdf1c4405e
2:173881108 RAPGEF4 G>A	2	173881108	173881108	G	A	RAPGEF4	c.1841G>A	NM_007023.4	NP_008954.2:p.(Arg614Gln)	NC_000002.11:g.173881108G>A	(Likely) benign	1 lab	cdf201ebfb
9:140000693 MAN1B1 G>A	9	140000693	140000693	G	A	MAN1B1	c.1371G>A	NM_016219.4	NP_057303.2:p.(Thr457=)	NC_000009.11:g.140000693G>A	(Likely) benign	1 lab	cdf30dc7eb
2:162761398 SLC4A10 A>T	2	162761398	162761398	A	T	SLC4A10	c.1673A>T	NM_001178016.1	NP_001171487.1:p.(Lys558Met)	NC_000002.11:g.162761398A>T	VUS	1 lab	cdf3dfe606
11:116692374 APOA4 G>A	11	116692374	116692374	G	A	APOA4	c.400C>T	NM_000482.3	NP_000473.2:p.(Arg134Cys)	NC_000011.9:g.116692374G>A	VUS	1 lab	cdf5083235
X:3238058 MXRA5 C>A	X	3238058	3238058	C	A	MXRA5	c.5668G>T	NM_015419.3	NP_056234.2:p.(Val1890Phe)	NC_000023.10:g.3238058C>A	VUS	1 lab	cdf6f0defe
15:23892126 MAGEL2 G>A	15	23892126	23892126	G	A	MAGEL2	c.764C>T	NM_019066.4	NP_061939.3:p.(Pro255Leu)	NC_000015.9:g.23892126G>A	(Likely) benign	1 lab	cdf77b5451
2:238451309 MLPH G>T	2	238451309	238451309	G	T	MLPH	c.1539+7G>T	NM_024101.5	NP_077006.1:p.?	NC_000002.11:g.238451309G>T	(Likely) benign	1 lab	cdf79ecdb6
17:79769159 GCGR C>T	17	79769159	79769159	C	T	GCGR	c.455C>T	NM_000160.4	NP_000151.1:p.(Ser152Phe)	NC_000017.10:g.79769159C>T	VUS	1 lab	cdf9137561
10:127424226 EDRF1 C>A	10	127424226	127424226	C	A	EDRF1	c.1409C>A	NM_015608.2	NP_056423.2:p.(Ala470Asp)	NC_000010.10:g.127424226C>A	VUS	1 lab	cdfaf506e2
16:1630775 IFT140 T>C	16	1630775	1630775	T	C	IFT140	c.1509A>G	NM_014714.3	NP_055529.2:p.(Gln503=)	NC_000016.9:g.1630775T>C	VUS	1 lab	cdfce0fcb2
2:208986487 CRYGD C>T	2	208986487	208986487	C	T	CRYGD	c.435G>A	NM_006891.3	NP_008822.2:p.(Leu145=)	NC_000002.11:g.208986487C>T	(Likely) benign	1 lab	cdfd445914
7:73470666 ELN G>A	7	73470666	73470666	G	A	ELN	c.1216G>A	NM_001278939.1	NP_001265868.1:p.(Gly406Ser)	NC_000007.13:g.73470666G>A	VUS	1 lab	cdfdd98138
16:1257787 CACNA1H C>G	16	1257787	1257787	C	G	CACNA1H	c.3081C>G	NM_021098.2	NP_066921.2:p.(Ser1027=)	NC_000016.9:g.1257787C>G	(Likely) benign	1 lab	cdfe3e7f45
X:140983322 MAGEC3 C>T	X	140983322	140983322	C	T	MAGEC3	c.1100C>T	NM_138702.1	NP_619647.1:p.(Ser367Phe)	NC_000023.10:g.140983322C>T	VUS	1 lab	ce002530df
X:49218392 MISSING C>T	X	49218392	49218392	C	T	MISSING				NC_000023.10:g.49218392C>T	(Likely) benign	1 lab	ce030ed06b
X:65247341 VSIG4 T>A	X	65247341	65247341	T	A	VSIG4	c.785A>T	NM_001184830.1	NP_001171759.1:p.(Asp262Val)	NC_000023.10:g.65247341T>A	(Likely) benign	1 lab	ce037d0b62
17:74288855 QRICH2 G>T	17	74288855	74288855	G	T	QRICH2	c.1455C>A	NM_032134.2	NP_115510.1:p.(Val485=)	NC_000017.10:g.74288855G>T	(Likely) benign	1 lab	ce038536bd
4:5710179 EVC2 A>G	4	5710179	5710179	A	G	EVC2	c.62T>C	NM_147127.4	NP_667338.3:p.(Val21Ala)	NC_000004.11:g.5710179A>G	(Likely) benign	1 lab	ce049774a6
10:64927838 JMJD1C G>A	10	64927838	64927838	G	A	JMJD1C	c.7590C>T	NM_032776.2	NP_116165.1:p.(His2530=)	NC_000010.10:g.64927838G>A	(Likely) benign	1 lab	ce04de7c5b
12:133197717 P2RX2 G>C	12	133197717	133197717	G	C	P2RX2	c.905G>C	NM_001282165.1	NP_001269094.1:p.(Arg302Thr)	NC_000012.11:g.133197717G>C	VUS	1 lab	ce079c28c8
4:36216045 ARAP2 T>G	4	36216045	36216045	T	G	ARAP2	c.963A>C	NM_015230.4	NP_056045.2:p.(Gln321His)	NC_000004.11:g.36216045T>G	(Likely) benign	1 lab	ce08d591b0
14:105847365 PACS2 T>G	14	105847365	105847365	T	G	PACS2	c.1197T>G	NM_001100913.2	NP_001094383.2:p.(Asp399Glu)	NC_000014.8:g.105847365T>G	VUS	1 lab	ce0d277717
5:176638490 NSD1 G>T	5	176638490	176638490	G	T	NSD1	c.3090G>T	NM_022455.4	NP_071900.2:p.(Leu1030Phe)	NC_000005.9:g.176638490G>T	(Likely) benign	1 lab	ce0d706780
5:89989885 ADGRV1 A>G	5	89989885	89989885	A	G	ADGRV1	c.7312A>G	NM_032119.4	NP_115495.3:p.(Thr2438Ala)	NC_000005.9:g.89989885A>G	(Likely) benign	1 lab	ce0e7f7d13
6:31685393 LY6G6D G>A	6	31685393	31685393	G	A	LY6G6D	c.214G>A	NM_021246.2	NP_067069.2:p.(Val72Ile)	NC_000006.11:g.31685393G>A	(Likely) benign	1 lab	ce0edb4741
1:182522604 RGSL1 T>C	1	182522604	182522604	T	C	RGSL1	c.3058T>C	NM_001137669.2	NP_001131141.1:p.(Leu1020=)	NC_000001.10:g.182522604T>C	(Likely) benign	1 lab	ce0f15f228
8:61732675 CHD7 A>G	8	61732675	61732675	A	G	CHD7				NC_000008.10:g.61732675A>G	(Likely) benign	1 lab	ce10e2f86b
5:67576457 PIK3R1 C>T	5	67576457	67576457	C	T	PIK3R1	c.736C>T	NM_181523.2	NP_852664.1:p.(His246Tyr)	NC_000005.9:g.67576457C>T	VUS	1 lab	ce13b63356
6:56483472 DST G>C	6	56483472	56483472	G	C	DST	c.5360C>G	NM_001723.5	NP_001714.1:p.(Ser1787Cys)	NC_000006.11:g.56483472G>C	(Likely) benign	1 lab	ce14230443
10:67680348 CTNNA3 C>T	10	67680348	67680348	C	T	CTNNA3	c.2428G>A	NM_013266.3	NP_037398.2:p.(Ala810Thr)	NC_000010.10:g.67680348C>T	VUS	1 lab	ce1598624c
X:153130938 L1CAM C>A	X	153130938	153130938	C	A	L1CAM	c.2565G>T	NM_001278116.1	NP_001265045.1:p.(Glu855Asp)	NC_000023.10:g.153130938C>A	(Likely) benign	1 lab	ce16f58a66
19:48343008 CRX G>C	19	48343008	48343008	G	C	CRX	c.684G>C	NM_000554.5	NP_000545.1:p.(Gln228His)	NC_000019.9:g.48343008G>C	VUS	1 lab	ce17471dc5
2:172330478 DCAF17 C>T	2	172330478	172330478	C	T	DCAF17	c.1084C>T	NM_025000.3	NP_079276.2:p.(Gln362Ter)	NC_000002.11:g.172330478C>T	VUS	1 lab	ce18708cbf
15:28456159 HERC2 G>C	15	28456159	28456159	G	C	HERC2	c.7058C>G	NM_004667.5	NP_004658.3:p.(Thr2353Ser)	NC_000015.9:g.28456159G>C	(Likely) benign	1 lab	ce18d0903f
X:47308647 ZNF41 T>G	X	47308647	47308647	T	G	ZNF41	c.522A>C	NM_007130.3	NP_009061.1:p.(Lys174Asn)	NC_000023.10:g.47308647T>G	VUS	1 lab	ce1a30435e
9:104239023 PGAP4 C>T	9	104239023	104239023	C	T	PGAP4	c.352G>A	NM_001303107.1	NP_001290036.1:p.(Val118Ile)	NC_000009.11:g.104239023C>T	VUS	1 lab	ce1c1c681c
12:94543660 PLXNC1 G>A	12	94543660	94543660	G	A	PLXNC1	c.913G>A	NM_005761.2	NP_005752.1:p.(Val305Ile)	NC_000012.11:g.94543660G>A	(Likely) benign	1 lab	ce1d5889e1
1:898140 KLHL17 G>A	1	898140	898140	G	A	KLHL17	c.885G>A	NM_198317.2	NP_938073.1:p.(Val295=)	NC_000001.10:g.898140G>A	(Likely) benign	1 lab	ce1e717ec6
14:31535526 AP4S1 C>A	14	31535526	31535526	C	A	AP4S1	c.124C>A	NM_001254728.1	NP_001241657.1:p.(Arg42=)	NC_000014.8:g.31535526C>A	VUS	1 lab	ce1fc47d69
14:102901330 TECPR2 A>G	14	102901330	102901330	A	G	TECPR2	c.2176A>G	NM_014844.4	NP_055659.2:p.(Thr726Ala)	NC_000014.8:g.102901330A>G	(Likely) benign	1 lab	ce20564d23
22:50657603 TUBGCP6 A>T	22	50657603	50657603	A	T	TUBGCP6	c.4520T>A	NM_020461.3	NP_065194.2:p.(Phe1507Tyr)	NC_000022.10:g.50657603A>T	VUS	1 lab	ce205d018c
2:10581771 ODC1 G>A	2	10581771	10581771	G	A	ODC1	c.1105C>T	NM_002539.2	NP_002530.1:p.(Arg369Cys)	NC_000002.11:g.10581771G>A	VUS	1 lab	ce205d0937
6:31843711 SLC44A4 C>T	6	31843711	31843711	C	T	SLC44A4	c.-65-4G>A	NM_001178045.1	NP_001171516.1:p.?	NC_000006.11:g.31843711C>T	(Likely) benign	1 lab	ce20db428c
7:99704153 AP4M1 C>T	7	99704153	99704153	C	T	AP4M1	c.1137+16C>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99704153C>T	(Likely) benign	1 lab	ce21ad8b3a
10:126136647 NKX1-2 G>A	10	126136647	126136647	G	A	NKX1-2	c.284C>T	NM_001146340.3	NP_001139812.1:p.(Ala95Val)	NC_000010.10:g.126136647G>A	(Likely) benign	1 lab	ce244e5f26
6:38906737 DNAH8 C>T	6	38906737	38906737	C	T	DNAH8	c.11980C>T	NM_001206927.1	NP_001193856.1:p.(His3994Tyr)	NC_000006.11:g.38906737C>T	VUS	1 lab	ce24d7daae
4:184598696 TRAPPC11 A>G	4	184598696	184598696	A	G	TRAPPC11	c.820A>G	NM_021942.5	NP_068761.4:p.(Ile274Val)	NC_000004.11:g.184598696A>G	VUS	1 lab	ce24fb4c7e
19:36595933 WDR62 GCGCAGCCCCTCCAC>G	19	36595933	36595955	GCGCAGCCCCTCCAC	G	WDR62	c.*12_*25del	NM_001083961.2	NP_001077430.1:p.?	NC_000019.9:g.36595942_36595955del	VUS	1 lab	ce251713ec
7:47342958 TNS3 C>T	7	47342958	47342958	C	T	TNS3	c.3047G>A	NM_022748.12	NP_073585.8:p.(Ser1016Asn)	NC_000007.13:g.47342958C>T	(Likely) benign	1 lab	ce25631696
X:153588580 FLNA TG>T	X	153588580	153588582	TG	T	FLNA	c.3582del	NM_001110556.2	NP_001104026.1:p.(Ile1195LeufsTer91)	NC_000023.10:g.153588582del	(Likely) pathogenic	1 lab	ce27170672
X:18265971 SCML2 G>C	X	18265971	18265971	G	C	SCML2	c.1488C>G	NM_006089.2	NP_006080.1:p.(Thr496=)	NC_000023.10:g.18265971G>C	(Likely) benign	1 lab	ce2740f8e2
1:197070153 ASPM C>T	1	197070153	197070153	C	T	ASPM	c.8228G>A	NM_018136.4	NP_060606.3:p.(Arg2743Gln)	NC_000001.10:g.197070153C>T	(Likely) benign	1 lab	ce285130b7
3:126226625 UROC1 G>A	3	126226625	126226625	G	A	UROC1	c.562C>T	NM_001165974.1	NP_001159446.1:p.(Arg188Trp)	NC_000003.11:g.126226625G>A	(Likely) benign	1 lab	ce2922dd12
6:152462396 SYNE1 C>T	6	152462396	152462396	C	T	SYNE1	c.25188G>A	NM_182961.3	NP_892006.3:p.(Glu8396=)	NC_000006.11:g.152462396C>T	VUS	1 lab	ce2b5420b8
4:151788915 LRBA C>T	4	151788915	151788915	C	T	LRBA	c.2674G>A	NM_001199282.2	NP_001186211.2:p.(Ala892Thr)	NC_000004.11:g.151788915C>T	VUS	1 lab	ce2c5c6969
11:1265999 MUC5B T>C	11	1265999	1265999	T	C	MUC5B	c.7889T>C	NM_002458.2	NP_002449.2:p.(Leu2630Pro)	NC_000011.9:g.1265999T>C	(Likely) benign	1 lab	ce2d4d2403
16:1510903 CLCN7 A>T	16	1510903	1510903	A	T	CLCN7	c.398T>A	NM_001287.5	NP_001278.1:p.(Ile133Asn)	NC_000016.9:g.1510903A>T	VUS	1 lab	ce2ea0b01f
19:45860733 ERCC2 C>T	19	45860733	45860733	C	T	ERCC2	c.1376G>A	NM_000400.3	NP_000391.1:p.(Gly459Glu)	NC_000019.9:g.45860733C>T	VUS	1 lab	ce326ea4c6
21:34922572 SON C>T	21	34922572	34922572	C	T	SON	c.1035C>T	NM_138927.2	NP_620305.2:p.(Asp345=)	NC_000021.8:g.34922572C>T	(Likely) benign	1 lab	ce335428ec
11:31816332 PAX6 G>C	11	31816332	31816332	G	C	PAX6				NC_000011.9:g.31816332G>C	(Likely) benign	1 lab	ce33f3c769
8:118825110 EXT1 C>A	8	118825110	118825110	C	A	EXT1	c.1722+1G>T	NM_000127.2	NP_000118.2:p.?	NC_000008.10:g.118825110C>A	(Likely) pathogenic	1 lab	ce35c3bbee
X:66942786 AR G>A	X	66942786	66942786	G	A	AR	c.2567G>A	NM_000044.4	NP_000035.2:p.(Arg856His)	NC_000023.10:g.66942786G>A	(Likely) pathogenic	1 lab	ce37c95db1
19:13445191 CACNA1A C>T	19	13445191	13445191	C	T	CACNA1A	c.1198+1G>A	NM_023035.2	NP_075461.2:p.?	NC_000019.9:g.13445191C>T	(Likely) pathogenic	1 lab	ce399c3c0c
9:69421904 ANKRD20A4P C>CA	9	69421904	69421912	C	CA	ANKRD20A4P	c.1376dup	NM_001098805.1	NP_001092275.1:p.(Asn459LysfsTer2)	NC_000009.11:g.69421912dup	VUS	1 lab	ce3a55ced5
17:48674110 CACNA1G C>T	17	48674110	48674110	C	T	CACNA1G	c.3084C>T	NM_018896.4	NP_061496.2:p.(His1028=)	NC_000017.10:g.48674110C>T	(Likely) benign	1 lab	ce3ae8a045
3:184049311 EIF4G1 C>T	3	184049311	184049311	C	T	EIF4G1	c.4315C>T	NM_182917.4	NP_886553.3:p.(Leu1439Phe)	NC_000003.11:g.184049311C>T	VUS	1 lab	ce3aeb6d5b
2:191937833 STAT4 G>A	2	191937833	191937833	G	A	STAT4	c.456C>T	NM_003151.3	NP_003142.1:p.(Asn152=)	NC_000002.11:g.191937833G>A	(Likely) benign	1 lab	ce3bfe1f9e
5:90159570 ADGRV1 A>G	5	90159570	90159570	A	G	ADGRV1	c.17756-4A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90159570A>G	(Likely) benign	1 lab	ce3cdb8af8
X:48925331 CCDC120 C>T	X	48925331	48925331	C	T	CCDC120				NC_000023.10:g.48925331C>T	(Likely) benign	1 lab	ce3cf05f7d
6:76624700 MYO6 A>G	6	76624700	76624700	A	G	MYO6	c.3829A>G	NM_004999.3	NP_004990.3:p.(Thr1277Ala)	NC_000006.11:g.76624700A>G	VUS	1 lab	ce3fb13dd2
X:106117065 TBC1D8B C>T	X	106117065	106117065	C	T	TBC1D8B	c.3233C>T	NM_017752.2	NP_060222.2:p.(Ala1078Val)	NC_000023.10:g.106117065C>T	(Likely) benign	1 lab	ce4064deb2
X:47028863 RBM10 A>G	X	47028863	47028863	A	G	RBM10	c.362A>G	NM_001204468.1	NP_001191397.1:p.(Asp121Gly)	NC_000023.10:g.47028863A>G	VUS	1 lab	ce42225264
21:34960703 DONSON C>T	21	34960703	34960703	C	T	DONSON	c.245G>A	NM_017613.4	NP_060083.1:p.(Arg82His)	NC_000021.8:g.34960703C>T	(Likely) benign	1 lab	ce42f785a5
6:152804355 SYNE1 T>A	6	152804355	152804355	T	A	SYNE1	c.1215A>T	NM_182961.3	NP_892006.3:p.(Lys405Asn)	NC_000006.11:g.152804355T>A	VUS	1 lab	ce4326b98d
2:98736162 VWA3B C>T	2	98736162	98736162	C	T	VWA3B	c.478C>T	NM_144992.4	NP_659429.4:p.(Arg160Ter)	NC_000002.11:g.98736162C>T	(Likely) pathogenic	1 lab	ce43aee001
X:15509341 PIR G>A	X	15509341	15509341	G	A	PIR	c.40C>T	NM_003662.3	NP_003653.1:p.(Arg14Trp)	NC_000023.10:g.15509341G>A	(Likely) benign	1 lab	ce43b80075
9:113547974 MUSK C>T	9	113547974	113547974	C	T	MUSK	c.1754C>T	NM_005592.3	NP_005583.1:p.(Ala585Val)	NC_000009.11:g.113547974C>T	VUS	1 lab	ce43e34317
19:3981442 EEF2 A>G	19	3981442	3981442	A	G	EEF2	c.906T>C	NM_001961.3	NP_001952.1:p.(Asp302=)	NC_000019.9:g.3981442A>G	(Likely) benign	1 lab	ce445e1bf5
1:29447566 TMEM200B T>C	1	29447566	29447566	T	C	TMEM200B	c.775A>G	NM_001171868.1	NP_001165339.1:p.(Lys259Glu)	NC_000001.10:g.29447566T>C	VUS	1 lab	ce47a75efc
X:71521938 CITED1 T>C	X	71521938	71521938	T	C	CITED1	c.217A>G	NM_004143.3	NP_004134.2:p.(Thr73Ala)	NC_000023.10:g.71521938T>C	(Likely) benign	1 lab	ce486f4cc4
6:158579374 SERAC1 C>T	6	158579374	158579374	C	T	SERAC1	c.22G>A	NM_032861.3	NP_116250.3:p.(Val8Ile)	NC_000006.11:g.158579374C>T	(Likely) benign	1 lab	ce4b6c066f
15:52689527 MYO5A G>A	15	52689527	52689527	G	A	MYO5A	c.1190C>T	NM_000259.3	NP_000250.3:p.(Thr397Met)	NC_000015.9:g.52689527G>A	VUS	1 lab	ce4bff5289
4:56233887 SRD5A3 C>A	4	56233887	56233887	C	A	SRD5A3	c.695C>A	NM_024592.4	NP_078868.1:p.(Ala232Glu)	NC_000004.11:g.56233887C>A	(Likely) benign	1 lab	ce4ca3fa68
22:18347465 MICAL3 C>A	22	18347465	18347465	C	A	MICAL3	c.3177G>T	NM_001136004.3	NP_001129476.1:p.(Leu1059=)	NC_000022.10:g.18347465C>A	(Likely) benign	1 lab	ce4e10456e
9:124094750 GSN C>T	9	124094750	124094750	C	T	GSN	c.2065C>T	NM_001353053.1	NP_001339982.1:p.(Arg689Trp)	NC_000009.11:g.124094750C>T	VUS	1 lab	ce50c5dd67
3:183894737 AP2M1 A>G	3	183894737	183894737	A	G	AP2M1	c.-43-2A>G	NM_004068.4	NP_004059.2:p.?	NC_000003.11:g.183894737A>G	VUS	1 lab	0221827d4a
15:73615739 HCN4 C>T	15	73615739	73615739	C	T	HCN4	c.2695G>A	NM_005477.2	NP_005468.1:p.(Val899Ile)	NC_000015.9:g.73615739C>T	(Likely) benign	1 lab	ce50e4f899
4:110791573 LRIT3 A>G	4	110791573	110791573	A	G	LRIT3	c.1668A>G	NM_198506.4	NP_940908.3:p.(Pro556=)	NC_000004.11:g.110791573A>G	(Likely) benign	1 lab	ce525fec00
10:69933830 MYPN A>T	10	69933830	69933830	A	T	MYPN	c.1981A>T	NM_032578.3	NP_115967.2:p.(Thr661Ser)	NC_000010.10:g.69933830A>T	(Likely) benign	1 lab	ce52e3b739
18:67863903 RTTN G>A	18	67863903	67863903	G	A	RTTN	c.694-19C>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67863903G>A	(Likely) benign	1 lab	ce53a580d0
19:48660317 LIG1 G>A	19	48660317	48660317	G	A	LIG1	c.324C>T	NM_001320970.1	NP_001307899.1:p.(Thr108=)	NC_000019.9:g.48660317G>A	(Likely) benign	1 lab	ce53acc478
X:111097056 TRPC5 A>C	X	111097056	111097056	A	C	TRPC5	c.1179T>G	NM_012471.2	NP_036603.1:p.(Leu393=)	NC_000023.10:g.111097056A>C	(Likely) benign	1 lab	ce53db0be9
12:50498520 GPD1 T>C	12	50498520	50498520	T	C	GPD1	c.205T>C	NM_005276.3	NP_005267.2:p.(Leu69=)	NC_000012.11:g.50498520T>C	(Likely) benign	1 lab	ce564b0e5a
5:150946045 FAT2 G>A	5	150946045	150946045	G	A	FAT2	c.2448C>T	NM_001447.2	NP_001438.1:p.(Asn816=)	NC_000005.9:g.150946045G>A	(Likely) benign	1 lab	ce5b6e4cdd
11:61723235 BEST1 A>G	11	61723235	61723235	A	G	BEST1	c.113A>G	NM_001139443.1	NP_001132915.1:p.(Glu38Gly)	NC_000011.9:g.61723235A>G	VUS	1 lab	ce5bcb5a2d
9:2170426 SMARCA2 G>A	9	2170426	2170426	G	A	SMARCA2	c.4207G>A	NM_003070.4	NP_003061.3:p.(Val1403Met)	NC_000009.11:g.2170426G>A	(Likely) benign	1 lab	ce5da814d9
3:63981655 ATXN7 C>T	3	63981655	63981655	C	T	ATXN7	c.2157C>T	NM_000333.3	NP_000324.1:p.(Ser719=)	NC_000003.11:g.63981655C>T	(Likely) benign	1 lab	ce5dbce967
11:64602028 CDC42BPG G>A	11	64602028	64602028	G	A	CDC42BPG	c.2197C>T	NM_017525.3	NP_059995.2:p.(Arg733Ter)	NC_000011.9:g.64602028G>A	VUS	1 lab	ce5dbe6ace
8:17942273 ASAH1 C>T	8	17942273	17942273	C	T	ASAH1	c.38G>A	NM_004315.5	NP_004306.3:p.(Gly13Glu)	NC_000008.10:g.17942273C>T	(Likely) benign	1 lab	ce5f0cfacd
6:65303078 EYS A>T	6	65303078	65303078	A	T	EYS	c.3809T>A	NM_001292009.1	NP_001278938.1:p.(Val1270Asp)	NC_000006.11:g.65303078A>T	(Likely) benign	1 lab	ce5fc55b9f
11:68542863 CPT1A G>A	11	68542863	68542863	G	A	CPT1A	c.1496C>T	NM_001876.4	NP_001867.2:p.(Ala499Val)	NC_000011.9:g.68542863G>A	(Likely) benign	1 lab	ce616dab37
17:29676208 NF1 TAACA>T	17	29676208	29676216	TAACA	T	NF1	c.7265_7268del	NM_001042492.3	NP_001035957.1:p.(Lys2422ThrfsTer9)	NC_000017.10:g.29676213_29676216del	(Likely) pathogenic	1 lab	ce6190e69f
1:17314950 ATP13A2 C>T	1	17314950	17314950	C	T	ATP13A2	c.2629G>A	NM_022089.2	NP_071372.1:p.(Gly877Arg)	NC_000001.10:g.17314950C>T	(Likely) pathogenic	1 lab	ce64adb13f
9:139413126 NOTCH1 C>T	9	139413126	139413126	C	T	NOTCH1	c.1016G>A	NM_017617.5	NP_060087.3:p.(Cys339Tyr)	NC_000009.11:g.139413126C>T	VUS	1 lab	ce67ac1a42
X:102005307 ARMCX5-GPRASP2 A>G	X	102005307	102005307	A	G	ARMCX5-GPRASP2	c.1384A>G	NM_001350268.1	NP_001337197.1:p.(Asn462Asp)	NC_000023.10:g.102005307A>G	VUS	1 lab	ce6889008d
1:227171940 COQ8A TGTCTGTGCCAGCAGACAGGTGGGGCCAGGGTGGCCCTGCTGTGTGGCTGTTTGGTGACCTAATAGTGTGAGCTGGGGACTTGGAGCCCTGAGGTGCTCCCTGGGGGTGAGGGGCAGTGAAGTAGCACCAGTGGGACTTAGGGGGACACAGGGGAGCTGCTGCCTTCCCTGGCCCAAGTAACACTGGGAATCAAACAGTCCCTAGGGTAGGGTGGGTAAAACAGGAGGCAGGGGCTTCTCTGGCCCCAGTCTCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACA>T	1	227171940	227172248	TGTCTGTGCCAGCAGACAGGTGGGGCCAGGGTGGCCCTGCTGTGTGGCTGTTTGGTGACCTAATAGTGTGAGCTGGGGACTTGGAGCCCTGAGGTGCTCCCTGGGGGTGAGGGGCAGTGAAGTAGCACCAGTGGGACTTAGGGGGACACAGGGGAGCTGCTGCCTTCCCTGGCCCAAGTAACACTGGGAATCAAACAGTCCCTAGGGTAGGGTGGGTAAAACAGGAGGCAGGGGCTTCTCTGGCCCCAGTCTCCCAGGGCACCAGGCAGTGTGGTGCTGCCTGACACAGACCCTTCGCGCTGTCCACA	T	COQ8A	c.1398_1399insGTTTG	NM_020247.4	NP_064632.2:p.(Ile467ValfsTer2)	NC_000001.10:g.227171942_227172248del	VUS	1 lab	ce68c7c460
16:711941 WDR90 G>A	16	711941	711941	G	A	WDR90	c.3915G>A	NM_145294.5	NP_660337.3:p.(Ser1305=)	NC_000016.9:g.711941G>A	(Likely) benign	1 lab	ce6941d5fd
16:4382351 GLIS2 C>A	16	4382351	4382351	C	A	GLIS2	c.70C>A	NM_032575.2	NP_115964.2:p.(Arg24=)	NC_000016.9:g.4382351C>A	(Likely) benign	1 lab	ce6b02c98b
X:70443587 GJB1 C>T	X	70443587	70443587	C	T	GJB1	c.30C>T	NM_000166.5	NP_000157.1:p.(Leu10=)	NC_000023.10:g.70443587C>T	(Likely) benign	1 lab	ce6b9ef03c
7:33192350 BBS9 G>C	7	33192350	33192350	G	C	BBS9	c.150G>C	NM_198428.2	NP_940820.1:p.(Arg50Ser)	NC_000007.13:g.33192350G>C	VUS	1 lab	ce6df4539a
1:2316431 MORN1 C>T	1	2316431	2316431	C	T	MORN1	c.523G>A	NM_024848.3	NP_079124.1:p.(Gly175Ser)	NC_000001.10:g.2316431C>T	VUS	1 lab	ce6eb8e6ef
X:106198272 MORC4 C>T	X	106198272	106198272	C	T	MORC4	c.1556G>A	NM_024657.5	NP_078933.3:p.(Gly519Glu)	NC_000023.10:g.106198272C>T	(Likely) benign	1 lab	ce7125f194
16:2134400 TSC2 ACT>A	16	2134400	2134404	ACT	A	TSC2	c.4180_4181del	NM_000548.5	NP_000539.2:p.(Leu1394AlafsTer19)	NC_000016.9:g.2134403_2134404del	(Likely) pathogenic	1 lab	ce71718a96
1:41285565 KCNQ4 G>A	1	41285565	41285565	G	A	KCNQ4	c.853G>A	NM_004700.3	NP_004691.2:p.(Gly285Ser)	NC_000001.10:g.41285565G>A	(Likely) pathogenic	1 lab	ce718bb7fe
X:1719847 AKAP17A C>T	X	1719847	1719847	C	T	AKAP17A	c.1448C>T	NM_005088.2	NP_005079.2:p.(Thr483Met)	NC_000023.10:g.1719847C>T	VUS	1 lab	ce739e118c
10:124812685 ACADSB AT>A	10	124812685	124812697	AT	A	ACADSB	c.1228+21del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124812697del	(Likely) benign	1 lab	ce7404899b
9:135781192 TSC1 C>T	9	135781192	135781192	C	T	TSC1	c.1773G>A	NM_000368.4	NP_000359.1:p.(Pro591=)	NC_000009.11:g.135781192C>T	(Likely) benign	1 lab	ce744f72e4
6:152545665 SYNE1 G>A	6	152545665	152545665	G	A	SYNE1	c.21486C>T	NM_182961.3	NP_892006.3:p.(Ser7162=)	NC_000006.11:g.152545665G>A	(Likely) benign	1 lab	ce74fc0997
10:96336523 HELLS G>A	10	96336523	96336523	G	A	HELLS	c.993G>A	NM_001289067.1	NP_001275996.1:p.(Thr331=)	NC_000010.10:g.96336523G>A	(Likely) benign	1 lab	ce75c24758
11:19905859 NAV2 T>A	11	19905859	19905859	T	A	NAV2	c.790T>A	NM_001244963.1	NP_001231892.1:p.(Ser264Thr)	NC_000011.9:g.19905859T>A	(Likely) benign	1 lab	ce75f343a7
12:80982097 MISSING A>G	12	80982097	80982097	A	G	MISSING				NC_000012.11:g.80982097A>G	VUS	1 lab	ce7782e9c0
2:152384006 NEB G>T	2	152384006	152384006	G	T	NEB	c.21934C>A	NM_001271208.1	NP_001258137.1:p.(Gln7312Lys)	NC_000002.11:g.152384006G>T	VUS	1 lab	ce77d9cdd7
19:43382236 PSG1 C>G	19	43382236	43382236	C	G	PSG1	c.259G>C	NM_006905.2	NP_008836.2:p.(Glu87Gln)	NC_000019.9:g.43382236C>G	(Likely) benign	1 lab	ce77eca320
8:72246376 EYA1 G>A	8	72246376	72246376	G	A	EYA1	c.158C>T	NM_000503.5	NP_000494.2:p.(Ala53Val)	NC_000008.10:g.72246376G>A	VUS	1 lab	ce7a8a6904
17:1629070 WDR81 G>A	17	1629070	1629070	G	A	WDR81	c.817G>A	NM_001163809.1	NP_001157281.1:p.(Ala273Thr)	NC_000017.10:g.1629070G>A	VUS	1 lab	ce7b2f4953
17:3985752 ZZEF1 C>T	17	3985752	3985752	C	T	ZZEF1	c.2693G>A	NM_015113.4	NP_055928.3:p.(Arg898His)	NC_000017.10:g.3985752C>T	(Likely) benign	1 lab	ce7c6f0508
6:132041498 ENPP3 G>C	6	132041498	132041498	G	C	ENPP3	c.1546G>C	NM_005021.4	NP_005012.2:p.(Glu516Gln)	NC_000006.11:g.132041498G>C	VUS	1 lab	ce9bd3b023
9:135798859 TSC1 GACA>G	9	135798859	135798864	GACA	G	TSC1	c.381_383del	NM_000368.5	NP_000359.1:p.(Val128del)	NC_000009.11:g.135798862_135798864del	(Likely) pathogenic	1 lab	ce7d02369b
1:155330167 MISSING A>G	1	155330167	155330167	A	G	MISSING				NC_000001.10:g.155330167A>G	(Likely) benign	1 lab	ce887512b9
14:68252898 ZFYVE26 T>C	14	68252898	68252898	T	C	ZFYVE26	c.3072A>G	NM_015346.3	NP_056161.2:p.(Pro1024=)	NC_000014.8:g.68252898T>C	(Likely) benign	1 lab	ce7d186d3b
X:48826509 KCND1 G>A	X	48826509	48826509	G	A	KCND1	c.170C>T	NM_004979.5	NP_004970.3:p.(Thr57Met)	NC_000023.10:g.48826509G>A	VUS	1 lab	ce7d95e0b7
14:105418360 AHNAK2 G>A	14	105418360	105418360	G	A	AHNAK2	c.3428C>T	NM_138420.3	NP_612429.2:p.(Ala1143Val)	NC_000014.8:g.105418360G>A	VUS	1 lab	ce7f1c3b59
9:110045971 RAD23B G>T	9	110045971	110045971	G	T	RAD23B	c.61G>T	NM_002874.5	NP_002865.1:p.(Glu21Ter)	NC_000009.11:g.110045971G>T	VUS	1 lab	ce7f622321
12:80733048 OTOGL A>G	12	80733048	80733048	A	G	OTOGL	c.5023+4A>G	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80733048A>G	VUS	1 lab	ce7ff8a0bf
1:8045041 PARK7 T>C	1	8045041	8045041	T	C	PARK7	c.497T>C	NM_001123377.1	NP_001116849.1:p.(Leu166Pro)	NC_000001.10:g.8045041T>C	(Likely) pathogenic	1 lab	ce809228e7
17:63554536 AXIN2 C>T	17	63554536	63554536	C	T	AXIN2	c.203G>A	NM_004655.3	NP_004646.3:p.(Arg68Gln)	NC_000017.10:g.63554536C>T	VUS	1 lab	ce81e53401
17:29701098 NF1 C>T	17	29701098	29701098	C	T	NF1	c.8445C>T	NM_001042492.2	NP_001035957.1:p.(His2815=)	NC_000017.10:g.29701098C>T	(Likely) benign	1 lab	ce81f9792b
19:6496006 TUBB4A G>A	19	6496006	6496006	G	A	TUBB4A	c.504C>T	NM_006087.4	NP_006078.2:p.(Ser168=)	NC_000019.9:g.6496006G>A	(Likely) benign	1 lab	ce8461a5d5
12:111884759 SH2B3 C>A	12	111884759	111884759	C	A	SH2B3	c.848C>A	NM_005475.2	NP_005466.1:p.(Thr283Lys)	NC_000012.11:g.111884759C>A	VUS	1 lab	ce8527dc5f
10:102716290 SLF2 C>G	10	102716290	102716290	C	G	SLF2	c.3413C>G	NM_018121.4	NP_060591.3:p.(Thr1138Ser)	NC_000010.10:g.102716290C>G	VUS	1 lab	ce86b215ad
20:33762549 PROCR C>T	20	33762549	33762549	C	T	PROCR	c.115C>T	NM_006404.4	NP_006395.2:p.(Pro39Ser)	NC_000020.10:g.33762549C>T	VUS	1 lab	ce8ae08e0e
5:70782458 BDP1 T>C	5	70782458	70782458	T	C	BDP1	c.1213+4T>C	NM_018429.2	NP_060899.2:p.?	NC_000005.9:g.70782458T>C	(Likely) benign	1 lab	ce8b432ef7
3:49458922 AMT C>T	3	49458922	49458922	C	T	AMT	c.339+3G>A	NM_000481.3	NP_000472.2:p.?	NC_000003.11:g.49458922C>T	(Likely) benign	1 lab	ce8bfd7f5d
1:103468831 COL11A1 G>T	1	103468831	103468831	G	T	COL11A1	c.1981-7C>A	NM_080629.2	NP_542196.2:p.?	NC_000001.10:g.103468831G>T	(Likely) benign	1 lab	ce8ec4b726
17:29576133 NF1 AC>A	17	29576133	29576135	AC	A	NF1	c.4108del	NM_001042492.3	NP_001035957.1:p.(Gln1370ArgfsTer8)	NC_000017.10:g.29576135del	(Likely) pathogenic	1 lab	ce8fa1c5e7
7:144095499 NOBOX C>T	7	144095499	144095499	C	T	NOBOX	c.1650G>A	NM_001080413.3	NP_001073882.3:p.(Thr550=)	NC_000007.13:g.144095499C>T	(Likely) benign	1 lab	ce8feff58b
5:112090682 APC A>G	5	112090682	112090682	A	G	APC				NC_000005.9:g.112090682A>G	VUS	1 lab	ce9038c1a0
4:39515774 UGDH G>A	4	39515774	39515774	G	A	UGDH	c.193C>T	NM_003359.4	NP_003350.1:p.(Arg65Ter)	NC_000004.11:g.39515774G>A	(Likely) pathogenic	1 lab	ce905e7b76
2:149854982 KIF5C C>T	2	149854982	149854982	C	T	KIF5C	c.2169C>T	NM_004522.3	NP_004513.1:p.(Asp723=)	NC_000002.11:g.149854982C>T	(Likely) benign	1 lab	ce90f3b665
X:149101841 EOLA2 C>T	X	149101841	149101841	C	T	EOLA2	c.252G>A	NM_001013845.2	NP_001013867.1:p.(Ala84=)	NC_000023.10:g.149101841C>T	(Likely) benign	1 lab	ce912bc0a7
17:73830544 UNC13D T>C	17	73830544	73830544	T	C	UNC13D	c.2160A>G	NM_199242.2	NP_954712.1:p.(Ala720=)	NC_000017.10:g.73830544T>C	(Likely) benign	1 lab	ce918da583
14:102514895 DYNC1H1 G>A	14	102514895	102514895	G	A	DYNC1H1	c.13261G>A	NM_001376.4	NP_001367.2:p.(Ala4421Thr)	NC_000014.8:g.102514895G>A	VUS	1 lab	ce92293901
16:3823760 CREBBP C>T	16	3823760	3823760	C	T	CREBBP	c.2455G>A	NM_004380.2	NP_004371.2:p.(Val819Met)	NC_000016.9:g.3823760C>T	VUS	1 lab	ce9760a494
5:128863489 ADAMTS19 C>T	5	128863489	128863489	C	T	ADAMTS19	c.1135C>T	NM_133638.4	NP_598377.4:p.(Arg379Cys)	NC_000005.9:g.128863489C>T	VUS	1 lab	ce97dddf3c
14:94849403 SERPINA1 C>A	14	94849403	94849403	C	A	SERPINA1	c.172G>T	NM_001127701.1	NP_001121173.1:p.(Ala58Ser)	NC_000014.8:g.94849403C>A	(Likely) benign	1 lab	ce998d4a34
7:151168415 RHEB CAAT>C	7	151168415	151168421	CAAT	C	RHEB	c.380+62_380+64del	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151168419_151168421del	(Likely) benign	1 lab	ce9b1129f7
1:26527509 CATSPER4 G>A	1	26527509	26527509	G	A	CATSPER4	c.1176G>A	NM_198137.1	NP_937770.1:p.(Lys392=)	NC_000001.10:g.26527509G>A	(Likely) benign	1 lab	ce9bb9ab1f
2:158630626 ACVR1 C>T	2	158630626	158630626	C	T	ACVR1	c.617G>A	NM_001105.4	NP_001096.1:p.(Arg206His)	NC_000002.11:g.158630626C>T	(Likely) pathogenic	1 lab	ce9bf07389
7:114282610 FOXP2 A>G	7	114282610	114282610	A	G	FOXP2	c.996A>G	NM_148898.3	NP_683696.2:p.(Ala332=)	NC_000007.13:g.114282610A>G	(Likely) benign	1 lab	ce9bf6c4f0
22:38026174 GGA1 G>A	22	38026174	38026174	G	A	GGA1	c.1328G>A	NM_013365.5	NP_037497.1:p.(Arg443Gln)	NC_000022.10:g.38026174G>A	VUS	1 lab	ce9c242e1f
17:61781882 STRADA C>T	17	61781882	61781882	C	T	STRADA	c.919G>A	NM_001003787.3	NP_001003787.1:p.(Ala307Thr)	NC_000017.10:g.61781882C>T	VUS	1 lab	ce9d32b77c
1:228524955 OBSCN G>A	1	228524955	228524955	G	A	OBSCN	c.19542G>A	NM_001271223.2	NP_001258152.2:p.(Gln6514=)	NC_000001.10:g.228524955G>A	(Likely) benign	1 lab	ce9d71cb53
2:11944617 LPIN1 G>A	2	11944617	11944617	G	A	LPIN1	c.2082G>A	NM_001349205.1	NP_001336134.1:p.(Thr694=)	NC_000002.11:g.11944617G>A	(Likely) benign	1 lab	ce9df8b167
10:73569662 CDH23 C>T	10	73569662	73569662	C	T	CDH23	c.8808C>T	NM_022124.5	NP_071407.4:p.(Asp2936=)	NC_000010.10:g.73569662C>T	(Likely) benign	1 lab	ce9f51a5b1
15:91546352 VPS33B G>C	15	91546352	91546352	G	C	VPS33B	c.1235C>G	NM_018668.4	NP_061138.3:p.(Pro412Arg)	NC_000015.9:g.91546352G>C	(Likely) pathogenic	1 lab	ce9f8a3e91
19:38985215 RYR1 C>T	19	38985215	38985215	C	T	RYR1	c.6498C>T	NM_000540.2	NP_000531.2:p.(Leu2166=)	NC_000019.9:g.38985215C>T	(Likely) benign	1 lab	cea00fe4ab
11:17408822 KCNJ11 T>C	11	17408822	17408822	T	C	KCNJ11	c.817A>G	NM_000525.3	NP_000516.3:p.(Ser273Gly)	NC_000011.9:g.17408822T>C	(Likely) benign	1 lab	cea0893175
17:60637377 TLK2 G>GC	17	60637377	60637379	G	GC	TLK2	c.276dup	NM_001330418.1	NP_001317347.1:p.(Asn93GlnfsTer3)	NC_000017.10:g.60637379dup	(Likely) pathogenic	1 lab	cea487e0c0
16:72139235 DHX38 A>T	16	72139235	72139235	A	T	DHX38	c.2367A>T	NM_014003.3	NP_054722.2:p.(Lys789Asn)	NC_000016.9:g.72139235A>T	VUS	1 lab	cea7cfda52
11:17169072 PIK3C2A C>T	11	17169072	17169072	C	T	PIK3C2A	c.1552G>A	NM_001321378.1	NP_001308307.1:p.(Ala518Thr)	NC_000011.9:g.17169072C>T	VUS	1 lab	ceaa24fe50
11:31814978 PAX6 G>A	11	31814978	31814978	G	A	PAX6	c.1040C>T	NM_001310159.1	NP_001297088.1:p.(Ala347Val)	NC_000011.9:g.31814978G>A	(Likely) benign	1 lab	ceabbc8cb4
8:126069894 WASHC5 G>A	8	126069894	126069894	G	A	WASHC5	c.1779C>T	NM_014846.3	NP_055661.3:p.(Leu593=)	NC_000008.10:g.126069894G>A	(Likely) benign	1 lab	ceace93b3f
22:38153958 TRIOBP G>A	22	38153958	38153958	G	A	TRIOBP	c.6026G>A	NM_001039141.2	NP_001034230.1:p.(Gly2009Asp)	NC_000022.10:g.38153958G>A	(Likely) benign	1 lab	cead41715b
X:138711901 MCF2 T>C	X	138711901	138711901	T	C	MCF2	c.571A>G	NM_001171876.1	NP_001165347.1:p.(Ile191Val)	NC_000023.10:g.138711901T>C	(Likely) benign	1 lab	ceaee41b33
1:145416781 HJV G>A	1	145416781	145416781	G	A	HJV	c.1126G>A	NM_213653.3	NP_998818.1:p.(Ala376Thr)	NC_000001.10:g.145416781G>A	(Likely) benign	1 lab	ceb038748b
Y:22921893 RPS4Y2 G>T	Y	22921893	22921893	G	T	RPS4Y2	c.221G>T	NM_001039567.2	NP_001034656.1:p.(Gly74Val)	NC_000024.9:g.22921893G>T	VUS	1 lab	ceb134639b
12:132549332 EP400 G>A	12	132549332	132549332	G	A	EP400	c.8454G>A	NM_015409.4	NP_056224.3:p.(Pro2818=)	NC_000012.11:g.132549332G>A	(Likely) benign	1 lab	ceb5115fff
5:149749171 TCOF1 T>G	5	149749171	149749171	T	G	TCOF1	c.639+6T>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149749171T>G	(Likely) benign	1 lab	ceb53b5a73
18:67863870 RTTN C>A	18	67863870	67863870	C	A	RTTN	c.708G>T	NM_173630.3	NP_775901.3:p.(Leu236=)	NC_000018.9:g.67863870C>A	(Likely) benign	1 lab	ceb566943c
21:46929426 COL18A1 G>A	21	46929426	46929426	G	A	COL18A1	c.4642G>A	NM_130444.3	NP_569711.2:p.(Gly1548Arg)	NC_000021.8:g.46929426G>A	(Likely) benign	1 lab	ceb59ec697
1:215933042 USH2A C>G	1	215933042	215933042	C	G	USH2A	c.11191G>C	NM_206933.2	NP_996816.2:p.(Glu3731Gln)	NC_000001.10:g.215933042C>G	(Likely) benign	1 lab	ceb80aa14b
7:102604031 FBXL13 G>A	7	102604031	102604031	G	A	FBXL13	c.673C>T	NM_145032.3	NP_659469.3:p.(Arg225Cys)	NC_000007.13:g.102604031G>A	VUS	1 lab	ceb9ff15a6
16:89712464 CHMP1A C>T	16	89712464	89712464	C	T	CHMP1A	c.581G>A	NM_001083314.3	NP_001076783.1:p.(Arg194His)	NC_000016.9:g.89712464C>T	VUS	1 lab	ceba1a9914
2:209190253 PIKFYVE C>T	2	209190253	209190253	C	T	PIKFYVE	c.2718C>T	NM_015040.3	NP_055855.2:p.(Tyr906=)	NC_000002.11:g.209190253C>T	(Likely) benign	1 lab	ceba4d5462
10:50678212 ERCC6 G>A	10	50678212	50678212	G	A	ERCC6	c.3778+16C>T	NM_000124.2	NP_000115.1:p.?	NC_000010.10:g.50678212G>A	(Likely) benign	1 lab	cebba0ec7e
15:77057926 SCAPER G>A	15	77057926	77057926	G	A	SCAPER	c.1491C>T	NM_001353009.1	NP_001339938.1:p.(Asn497=)	NC_000015.9:g.77057926G>A	(Likely) benign	1 lab	cebedf4da2
16:2134535 TSC2 CG>C	16	2134535	2134539	CG	C	TSC2	c.4316del	NM_000548.5	NP_000539.2:p.(Gly1439AlafsTer37)	NC_000016.9:g.2134539del	(Likely) pathogenic	1 lab	cebf667c85
1:161761946 ATF6 G>A	1	161761946	161761946	G	A	ATF6	c.517G>A	NM_007348.3	NP_031374.2:p.(Val173Met)	NC_000001.10:g.161761946G>A	VUS	1 lab	cebfe74392
2:28741353 PLB1 C>T	2	28741353	28741353	C	T	PLB1	c.138C>T	NM_153021.4	NP_694566.4:p.(Phe46=)	NC_000002.11:g.28741353C>T	(Likely) benign	1 lab	cec0b3052a
1:11293147 MTOR C>T	1	11293147	11293147	C	T	MTOR	c.2421+308G>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11293147C>T	(Likely) benign	1 lab	cec169ce9c
16:2103349 TSC2 G>GTGGAAGCACTC	16	2103349	2103366	G	GTGGAAGCACTC	TSC2	c.239_249dup	NM_000548.3	NP_000539.2:p.(Ala84HisfsTer26)	NC_000016.9:g.2103356_2103366dup	(Likely) pathogenic	1 lab	cec41bbeed
3:49165978 LAMB2 C>T	3	49165978	49165978	C	T	LAMB2	c.1931G>A	NM_002292.3	NP_002283.3:p.(Arg644His)	NC_000003.11:g.49165978C>T	VUS	1 lab	cec65d47bf
20:2377229 TGM6 G>A	20	2377229	2377229	G	A	TGM6	c.502G>A	NM_198994.2	NP_945345.2:p.(Val168Met)	NC_000020.10:g.2377229G>A	VUS	1 lab	cec721daf5
9:140137870 TUBB4B C>T	9	140137870	140137870	C	T	TUBB4B	c.1200C>T	NM_006088.6	NP_006079.1:p.(Gly400=)	NC_000009.11:g.140137870C>T	VUS	1 lab	cec762d395
8:61761722 CHD7 C>T	8	61761722	61761722	C	T	CHD7				NC_000008.10:g.61761722C>T	(Likely) benign	1 lab	cec8a09427
17:42429407 GRN C>T	17	42429407	42429407	C	T	GRN	c.1204C>T	NM_002087.2	NP_002078.1:p.(His402Tyr)	NC_000017.10:g.42429407C>T	VUS	1 lab	cec8a9343e
2:48025875 MSH6 A>G	2	48025875	48025875	A	G	MSH6	c.753A>G	NM_000179.2	NP_000170.1:p.(Ile251Met)	NC_000002.11:g.48025875A>G	VUS	1 lab	cec96de2cf
17:39506801 KRT33A C>T	17	39506801	39506801	C	T	KRT33A	c.219G>A	NM_004138.3	NP_004129.2:p.(Lys73=)	NC_000017.10:g.39506801C>T	(Likely) benign	1 lab	ceca53ac66
22:51133246 MISSING G>A	22	51133246	51133246	G	A	MISSING				NC_000022.10:g.51133246G>A	(Likely) benign	1 lab	cecb389ad1
1:12062146 MFN2 G>A	1	12062146	12062146	G	A	MFN2	c.1146G>A	NM_014874.3	NP_055689.1:p.(Ala382=)	NC_000001.10:g.12062146G>A	(Likely) benign	1 lab	cecb864ea9
1:160651027 CD48 T>C	1	160651027	160651027	T	C	CD48	c.617A>G	NM_001256030.1	NP_001242959.1:p.(Asn206Ser)	NC_000001.10:g.160651027T>C	(Likely) benign	1 lab	cece48f88b
X:64749634 LAS1L T>C	X	64749634	64749634	T	C	LAS1L	c.639A>G	NM_031206.4	NP_112483.1:p.(Glu213=)	NC_000023.10:g.64749634T>C	(Likely) benign	1 lab	cecf34f3ff
2:1906931 MYT1L G>A	2	1906931	1906931	G	A	MYT1L	c.1947C>T	NM_015025.3	NP_055840.2:p.(Tyr649=)	NC_000002.11:g.1906931G>A	(Likely) benign	1 lab	ced195e306
14:74953054 NPC2 G>A	14	74953054	74953054	G	A	NPC2	c.168C>T	NM_006432.4	NP_006423.1:p.(Ser56=)	NC_000014.8:g.74953054G>A	(Likely) benign	1 lab	ced3c402a3
16:29495806 NPIPB12 C>A	16	29495806	29495806	C	A	NPIPB12	c.1991G>T	NM_001355401.1	NP_001342330.1:p.(Arg664Leu)	NC_000016.9:g.29495806C>A	(Likely) benign	1 lab	ced45824a5
17:10541555 MYH3 G>T	17	10541555	10541555	G	T	MYH3	c.3534C>A	NM_002470.3	NP_002461.2:p.(Asp1178Glu)	NC_000017.10:g.10541555G>T	VUS	1 lab	ced62187df
19:13418978 CACNA1A G>A	19	13418978	13418978	G	A	CACNA1A	c.1872C>T	NM_023035.2	NP_075461.2:p.(Phe624=)	NC_000019.9:g.13418978G>A	(Likely) benign	1 lab	ced7031af6
11:110126019 RDX C>G	11	110126019	110126019	C	G	RDX	c.790G>C	NM_002906.3	NP_002897.1:p.(Ala264Pro)	NC_000011.9:g.110126019C>G	VUS	1 lab	ced7823bf0
X:41379814 CASK G>T	X	41379814	41379814	G	T	CASK	c.2625C>A	NM_003688.3	NP_003679.2:p.(Asp875Glu)	NC_000023.10:g.41379814G>T	VUS	1 lab	ceddc5f949
9:135781551 TSC1 G>T	9	135781551	135781551	G	T	TSC1	c.1439-25C>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135781551G>T	(Likely) benign	1 lab	ceddd18c53
X:24735809 POLA1 G>T	X	24735809	24735809	G	T	POLA1	c.1021G>T	NM_001330360.1	NP_001317289.1:p.(Ala341Ser)	NC_000023.10:g.24735809G>T	VUS	1 lab	cedf64da46
9:40704130 SPATA31A3 G>T	9	40704130	40704130	G	T	SPATA31A3	c.1787G>T	NM_001083124.1	NP_001076593.1:p.(Arg596Leu)	NC_000009.11:g.40704130G>T	(Likely) benign	1 lab	cee37c217d
13:52511752 ATP7B G>A	13	52511752	52511752	G	A	ATP7B	c.3763C>T	NM_000053.3	NP_000044.2:p.(Leu1255Phe)	NC_000013.10:g.52511752G>A	VUS	1 lab	cee3c5226b
X:77155069 COX7B A>C	X	77155069	77155069	A	C	COX7B	c.19A>C	NM_001866.3	NP_001857.1:p.(Ser7Arg)	NC_000023.10:g.77155069A>C	(Likely) benign	1 lab	cee4ae5f29
X:69665288 DLG3 C>T	X	69665288	69665288	C	T	DLG3	c.237C>T	NM_021120.3	NP_066943.2:p.(Gly79=)	NC_000023.10:g.69665288C>T	(Likely) benign	1 lab	cee64c117c
17:39535269 KRT34 G>A	17	39535269	39535269	G	A	KRT34	c.1162C>T	NM_021013.3	NP_066293.2:p.(Arg388Cys)	NC_000017.10:g.39535269G>A	VUS	1 lab	cee693b8a5
X:54492139 FGD1 T>C	X	54492139	54492139	T	C	FGD1	c.1487A>G	NM_004463.2	NP_004454.2:p.(His496Arg)	NC_000023.10:g.54492139T>C	VUS	1 lab	cee6cc0abe
19:17113091 MISSING C>A	19	17113091	17113091	C	A	MISSING				NC_000019.9:g.17113091C>A	VUS	1 lab	cee89030c4
11:17547981 USH1C C>T	11	17547981	17547981	C	T	USH1C	c.587G>A	NM_153676.3	NP_710142.1:p.(Arg196Gln)	NC_000011.9:g.17547981C>T	VUS	1 lab	cee916700f
2:218712594 TNS1 A>T	2	218712594	218712594	A	T	TNS1	c.2271T>A	NM_022648.5	NP_072174.3:p.(His757Gln)	NC_000002.11:g.218712594A>T	(Likely) benign	1 lab	cee9c8926f
3:72799657 SHQ1 A>C	3	72799657	72799657	A	C	SHQ1	c.1512T>G	NM_018130.3	NP_060600.2:p.(Ile504Met)	NC_000003.11:g.72799657A>C	VUS	1 lab	ceeae6f0ee
18:56010188 NEDD4L C>T	18	56010188	56010188	C	T	NEDD4L	c.1428C>T	NM_001144967.2	NP_001138439.1:p.(Asn476=)	NC_000018.9:g.56010188C>T	(Likely) benign	1 lab	ceeb0068a8
9:96061517 WNK2 G>A	9	96061517	96061517	G	A	WNK2	c.6200G>A	NM_001282394.1	NP_001269323.1:p.(Ser2067Asn)	NC_000009.11:g.96061517G>A	(Likely) benign	1 lab	ceeea1050a
10:27820545 RAB18 G>A	10	27820545	27820545	G	A	RAB18	c.273+1G>A	NM_001256410.1	NP_001243339.1:p.?	NC_000010.10:g.27820545G>A	(Likely) pathogenic	1 lab	ceef5852f7
11:78369597 TENM4 T>A	11	78369597	78369597	T	A	TENM4	c.7816A>T	NM_001098816.2	NP_001092286.2:p.(Asn2606Tyr)	NC_000011.9:g.78369597T>A	VUS	1 lab	ceefcd15de
2:38298002 CYP1B1 C>T	2	38298002	38298002	C	T	CYP1B1	c.1495G>A	NM_000104.3	NP_000095.2:p.(Glu499Lys)	NC_000002.11:g.38298002C>T	(Likely) benign	1 lab	ceefd8369b
7:147869319 CNTNAP2 T>G	7	147869319	147869319	T	G	CNTNAP2	c.2774-15T>G	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147869319T>G	(Likely) benign	1 lab	ceefd9c67e
9:112694311 PALM2AKAP2 A>G	9	112694311	112694311	A	G	PALM2AKAP2	c.496+3A>G	NM_007203.4	NP_009134.1:p.?	NC_000009.11:g.112694311A>G	(Likely) benign	1 lab	cef24513b7
X:3021839 ARSF G>A	X	3021839	3021839	G	A	ARSF	c.1139G>A	NM_001201539.1	NP_001188468.1:p.(Arg380His)	NC_000023.10:g.3021839G>A	(Likely) benign	1 lab	cef3e46254
19:50412538 NUP62 G>A	19	50412538	50412538	G	A	NUP62	c.527C>T	NM_016553.4	NP_057637.2:p.(Ala176Val)	NC_000019.9:g.50412538G>A	(Likely) benign	1 lab	cef4c102ae
12:9085355 PHC1 G>A	12	9085355	9085355	G	A	PHC1	c.1302G>A	NM_004426.2	NP_004417.2:p.(Gln434=)	NC_000012.11:g.9085355G>A	(Likely) benign	1 lab	cef51aec38
9:13168488 MPDZ C>T	9	13168488	13168488	C	T	MPDZ	c.3131G>A	NM_003829.4	NP_003820.2:p.(Arg1044Gln)	NC_000009.11:g.13168488C>T	VUS	1 lab	cef52c0f92
14:102900831 TECPR2 T>C	14	102900831	102900831	T	C	TECPR2	c.1677T>C	NM_014844.4	NP_055659.2:p.(Ser559=)	NC_000014.8:g.102900831T>C	(Likely) benign	1 lab	cef54366db
6:3225793 TUBB2B T>A	6	3225793	3225793	T	A	TUBB2B	c.530A>T	NM_178012.4	NP_821080.1:p.(Asp177Val)	NC_000006.11:g.3225793T>A	(Likely) pathogenic	1 lab	cef5c3b237
12:67700213 CAND1 T>C	12	67700213	67700213	T	C	CAND1	c.2765T>C	NM_018448.4	NP_060918.2:p.(Val922Ala)	NC_000012.11:g.67700213T>C	VUS	1 lab	cefbe6980f
17:29559868 NF1 CA>C	17	29559868	29559870	CA	C	NF1	c.3467del	NM_001042492.3	NP_001035957.1:p.(Asn1156ThrfsTer2)	NC_000017.10:g.29559870del	(Likely) pathogenic	1 lab	cefc2ee994
1:3313089 PRDM16 G>A	1	3313089	3313089	G	A	PRDM16	c.608G>A	NM_022114.3	NP_071397.3:p.(Gly203Asp)	NC_000001.10:g.3313089G>A	VUS	1 lab	cefd4040d6
14:75017870 LTBP2 T>G	14	75017870	75017870	T	G	LTBP2	c.1583A>C	NM_000428.2	NP_000419.1:p.(Asn528Thr)	NC_000014.8:g.75017870T>G	(Likely) benign	1 lab	cf016b1adc
17:29684003 NF1 A>G	17	29684003	29684003	A	G	NF1	c.7701A>G	NM_000267.3	NP_000258.1:p.(Gln2567=)	NC_000017.10:g.29684003A>G	(Likely) benign	1 lab	cf0208c128
2:27465608 CAD G>C	2	27465608	27465608	G	C	CAD	c.6343G>C	NM_004341.4	NP_004332.2:p.(Val2115Leu)	NC_000002.11:g.27465608G>C	(Likely) benign	1 lab	cf03c05620
X:1314947 MISSING C>G	X	1314947	1314947	C	G	MISSING				NC_000023.10:g.1314947C>G	(Likely) benign	1 lab	cf05c38615
11:1265184 MUC5B C>G	11	1265184	1265184	C	G	MUC5B	c.7074C>G	NM_002458.2	NP_002449.2:p.(Leu2358=)	NC_000011.9:g.1265184C>G	(Likely) benign	1 lab	cf0627f8f6
X:153690587 PLXNA3 C>T	X	153690587	153690587	C	T	PLXNA3	c.1254C>T	NM_017514.4	NP_059984.3:p.(Ala418=)	NC_000023.10:g.153690587C>T	(Likely) benign	1 lab	cf07108d47
X:47307235 ZNF41 G>A	X	47307235	47307235	G	A	ZNF41	c.1934C>T	NM_007130.3	NP_009061.1:p.(Thr645Ile)	NC_000023.10:g.47307235G>A	VUS	1 lab	cf07602f98
19:33324116 SLC7A9 G>A	19	33324116	33324116	G	A	SLC7A9	c.1338C>T	NM_001243036.1	NP_001229965.1:p.(Ser446=)	NC_000019.9:g.33324116G>A	(Likely) benign	1 lab	cf08065946
8:6302922 MCPH1 G>T	8	6302922	6302922	G	T	MCPH1	c.1679G>T	NM_024596.4	NP_078872.2:p.(Ser560Ile)	NC_000008.10:g.6302922G>T	VUS	1 lab	cf08e722b8
14:105419322 AHNAK2 G>A	14	105419322	105419322	G	A	AHNAK2	c.2466C>T	NM_138420.3	NP_612429.2:p.(Ala822=)	NC_000014.8:g.105419322G>A	(Likely) benign	1 lab	cf09bcb902
1:154561839 ADAR G>A	1	154561839	154561839	G	A	ADAR	c.1877+6C>T	NM_001193495.2	NP_001180424.1:p.?	NC_000001.10:g.154561839G>A	(Likely) benign	1 lab	cf0bdd5ef9
10:95993887 PLCE1 A>G	10	95993887	95993887	A	G	PLCE1	c.2032A>G	NM_016341.3	NP_057425.3:p.(Met678Val)	NC_000010.10:g.95993887A>G	VUS	1 lab	cf0f58ec0f
19:59023059 SLC27A5 C>T	19	59023059	59023059	C	T	SLC27A5	c.264G>A	NM_012254.2	NP_036386.1:p.(Pro88=)	NC_000019.9:g.59023059C>T	(Likely) benign	1 lab	cf0f62a78b
9:131483793 ZDHHC12 G>C	9	131483793	131483793	G	C	ZDHHC12	c.499C>G	NM_001318016.1	NP_001304945.1:p.(Pro167Ala)	NC_000009.11:g.131483793G>C	VUS	1 lab	cf100c85e7
3:148847714 HPS3 C>T	3	148847714	148847714	C	T	HPS3	c.204C>T	NM_032383.4	NP_115759.2:p.(Ala68=)	NC_000003.11:g.148847714C>T	(Likely) benign	1 lab	cf1014a447
1:226026972 EPHX1 G>A	1	226026972	226026972	G	A	EPHX1	c.647G>A	NM_001291163.1	NP_001278092.1:p.(Gly216Asp)	NC_000001.10:g.226026972G>A	VUS	1 lab	cf10fa31db
1:21562343 ECE1 G>A	1	21562343	21562343	G	A	ECE1	c.1530C>T	NM_001113347.1	NP_001106818.1:p.(Asp510=)	NC_000001.10:g.21562343G>A	(Likely) benign	1 lab	cf11076887
10:26856035 APBB1IP G>A	10	26856035	26856035	G	A	APBB1IP	c.1619G>A	NM_019043.4	NP_061916.3:p.(Gly540Asp)	NC_000010.10:g.26856035G>A	(Likely) benign	1 lab	cf111ffb70
17:29546102 NF1 C>G	17	29546102	29546102	C	G	NF1	c.1607C>G	NM_000267.3	NP_000258.1:p.(Ser536Ter)	NC_000017.10:g.29546102C>G	(Likely) pathogenic	1 lab	cf11414a12
X:70361197 MED12 CCCCAGCCCCAGT>C	X	70361197	70361220	CCCCAGCCCCAGT	C	MED12	c.6397_6408del	NM_005120.3	NP_005111.2:p.(Ser2133_Gln2136del)	NC_000023.10:g.70361209_70361220del	VUS	1 lab	cf11b77477
17:78317054 RNF213 G>A	17	78317054	78317054	G	A	RNF213	c.6112G>A	NM_001256071.2	NP_001243000.2:p.(Ala2038Thr)	NC_000017.10:g.78317054G>A	(Likely) benign	1 lab	cf12168e1a
1:197104221 ASPM T>A	1	197104221	197104221	T	A	ASPM	c.2173+5A>T	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197104221T>A	(Likely) benign	1 lab	cf130edb75
6:157527586 ARID1B G>A	6	157527586	157527586	G	A	ARID1B	c.5431G>A	NM_001346813.1	NP_001333742.1:p.(Ala1811Thr)	NC_000006.11:g.157527586G>A	(Likely) benign	1 lab	cf1421aa48
11:117860318 IL10RA G>A	11	117860318	117860318	G	A	IL10RA	c.350G>A	NM_001558.3	NP_001549.2:p.(Arg117His)	NC_000011.9:g.117860318G>A	(Likely) pathogenic	1 lab	cf14d413e6
5:82836315 VCAN G>T	5	82836315	82836315	G	T	VCAN	c.7493G>T	NM_004385.4	NP_004376.2:p.(Ser2498Ile)	NC_000005.9:g.82836315G>T	(Likely) benign	1 lab	cf14f7f36f
X:153695682 PLXNA3 C>T	X	153695682	153695682	C	T	PLXNA3	c.3309C>T	NM_017514.4	NP_059984.3:p.(Phe1103=)	NC_000023.10:g.153695682C>T	(Likely) benign	1 lab	cf1614ae82
4:126412359 FAT4 G>A	4	126412359	126412359	G	A	FAT4	c.14388G>A	NM_001291303.1	NP_001278232.1:p.(Arg4796=)	NC_000004.11:g.126412359G>A	(Likely) benign	1 lab	cf17a85f80
2:27275889 AGBL5 C>T	2	27275889	27275889	C	T	AGBL5	c.63C>T	NM_021831.5	NP_068603.4:p.(His21=)	NC_000002.11:g.27275889C>T	(Likely) benign	1 lab	cf185bc890
1:215972258 USH2A G>A	1	215972258	215972258	G	A	USH2A	c.9949C>T	NM_206933.2	NP_996816.2:p.(Arg3317Cys)	NC_000001.10:g.215972258G>A	VUS	1 lab	cf1b338ee9
21:34022635 SYNJ1 T>C	21	34022635	34022635	T	C	SYNJ1	c.3013A>G	NM_203446.2	NP_982271.2:p.(Ile1005Val)	NC_000021.8:g.34022635T>C	(Likely) benign	1 lab	cf1ba40d22
1:231829578 DISC1 G>A	1	231829578	231829578	G	A	DISC1	c.74G>A	NM_001164537.1	NP_001158009.1:p.(Arg25Gln)	NC_000001.10:g.231829578G>A	(Likely) benign	1 lab	cf1d986eae
17:29654764 NF1 TC>T	17	29654764	29654769	TC	T	NF1	c.5521del	NM_001042492.3	NP_001035957.1:p.(Gln1841AsnfsTer22)	NC_000017.10:g.29654769del	(Likely) pathogenic	1 lab	cf1dac7712
6:51929850 PKHD1 TA>T	6	51929850	51929853	TA	T	PKHD1	c.881-3del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51929853del	VUS	1 lab	cf1ed497bf
8:11683723 FDFT1 A>C	8	11683723	11683723	A	C	FDFT1	c.701A>C	NM_001287742.1	NP_001274671.1:p.(Glu234Ala)	NC_000008.10:g.11683723A>C	VUS	1 lab	cf2139ff16
11:57367580 SERPING1 C>G	11	57367580	57367580	C	G	SERPING1	c.280C>G	NM_000062.2	NP_000053.2:p.(Pro94Ala)	NC_000011.9:g.57367580C>G	(Likely) benign	1 lab	cf2333bc12
X:153667191 GDI1 C>T	X	153667191	153667191	C	T	GDI1	c.234C>T	NM_001493.2	NP_001484.1:p.(Pro78=)	NC_000023.10:g.153667191C>T	(Likely) benign	1 lab	cf23766608
9:71831388 TJP2 C>T	9	71831388	71831388	C	T	TJP2	c.239+9C>T	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71831388C>T	(Likely) benign	1 lab	cf26e01181
16:2138682 TSC2 C>T	16	2138682	2138682	C	T	TSC2	c.*71C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138682C>T	VUS	1 lab	cf2758df1b
17:35299559 LHX1 C>A	17	35299559	35299559	C	A	LHX1	c.738C>A	NM_005568.4	NP_005559.2:p.(Ala246=)	NC_000017.10:g.35299559C>A	(Likely) benign	1 lab	cf27fd2fab
10:99229412 MMS19 G>T	10	99229412	99229412	G	T	MMS19	c.915C>A	NM_022362.5	NP_071757.4:p.(Ile305=)	NC_000010.10:g.99229412G>T	(Likely) benign	1 lab	cf2ac6c257
7:1538390 INTS1 G>C	7	1538390	1538390	G	C	INTS1	c.1236C>G	NM_001080453.3	NP_001073922.2:p.(Ile412Met)	NC_000007.13:g.1538390G>C	VUS	1 lab	cf2d4d2547
4:103533701 NFKB1 A>ATACTT	4	103533701	103533706	A	ATACTT	NFKB1	c.2528_2532dup	NM_001165412.1	NP_001158884.1:p.(Asn845TyrfsTer8)	NC_000004.11:g.103533702_103533706dup	(Likely) pathogenic	1 lab	cf2d597b9e
17:73235985 GGA3 G>A	17	73235985	73235985	G	A	GGA3	c.1252C>T	NM_001291641.1	NP_001278570.1:p.(Pro418Ser)	NC_000017.10:g.73235985G>A	(Likely) benign	1 lab	cf2d6e7145
16:77353789 ADAMTS18 C>T	16	77353789	77353789	C	T	ADAMTS18	c.1973G>A	NM_001326358.1	NP_001313287.1:p.(Arg658His)	NC_000016.9:g.77353789C>T	VUS	1 lab	cf2e748d12
5:94864775 SKIC3 T>G	5	94864775	94864775	T	G	SKIC3	c.924A>C	NM_014639.3	NP_055454.1:p.(Gly308=)	NC_000005.9:g.94864775T>G	(Likely) benign	1 lab	cf316296e6
X:128645816 SMARCA1 G>C	X	128645816	128645816	G	C	SMARCA1	c.775C>G	NM_003069.4	NP_003060.2:p.(Arg259Gly)	NC_000023.10:g.128645816G>C	VUS	1 lab	cf31ce9406
15:43038282 TTBK2 CT>C	15	43038282	43038283	CT	C	TTBK2	c.3445del	NM_173500.4	NP_775771.3:p.(Arg1149GlyfsTer68)	NC_000015.9:g.43038283del	(Likely) pathogenic	1 lab	cf31ced49c
22:50659293 TUBGCP6 G>A	22	50659293	50659293	G	A	TUBGCP6	c.3495C>T	NM_020461.3	NP_065194.2:p.(Ser1165=)	NC_000022.10:g.50659293G>A	(Likely) benign	1 lab	cf32175a39
17:41246126 BRCA1 T>G	17	41246126	41246126	T	G	BRCA1	c.1422A>C	NM_007294.3	NP_009225.1:p.(Leu474Phe)	NC_000017.10:g.41246126T>G	(Likely) benign	1 lab	cf322c6713
15:66618699 DIS3L C>T	15	66618699	66618699	C	T	DIS3L	c.1949C>T	NM_001323945.1	NP_001310874.1:p.(Thr650Ile)	NC_000015.9:g.66618699C>T	VUS	1 lab	cf323cbfc0
17:18049193 MYO15A G>A	17	18049193	18049193	G	A	MYO15A	c.6281G>A	NM_016239.3	NP_057323.3:p.(Arg2094His)	NC_000017.10:g.18049193G>A	VUS	1 lab	cf3409e217
X:18627035 CDKL5 A>G	X	18627035	18627035	A	G	CDKL5	c.2046+3A>G	NM_001323289.1	NP_001310218.1:p.?	NC_000023.10:g.18627035A>G	(Likely) benign	1 lab	cf346debab
11:65304520 SCYL1 C>T	11	65304520	65304520	C	T	SCYL1	c.1880C>T	NM_020680.3	NP_065731.3:p.(Thr627Met)	NC_000011.9:g.65304520C>T	(Likely) benign	1 lab	cf37e08e6d
14:95675745 CLMN G>A	14	95675745	95675745	G	A	CLMN	c.872C>T	NM_024734.4	NP_079010.2:p.(Pro291Leu)	NC_000014.8:g.95675745G>A	VUS	1 lab	cf3ad2740b
4:69512862 UGT2B15 C>T	4	69512862	69512862	C	T	UGT2B15	c.1553G>A	NM_001076.3	NP_001067.2:p.(Arg518Gln)	NC_000004.11:g.69512862C>T	(Likely) benign	1 lab	cf3ca9ebf2
1:24488131 IFNLR1 C>T	1	24488131	24488131	C	T	IFNLR1	c.411G>A	NM_170743.4	NP_734464.1:p.(Glu137=)	NC_000001.10:g.24488131C>T	(Likely) benign	1 lab	cf3d60f27c
4:88535832 DSPP A>G	4	88535832	88535832	A	G	DSPP	c.2018A>G	NM_014208.3	NP_055023.2:p.(Asp673Gly)	NC_000004.11:g.88535832A>G	(Likely) benign	1 lab	cf3d8a5a6c
1:237713904 RYR2 A>G	1	237713904	237713904	A	G	RYR2	c.3127A>G	NM_001035.2	NP_001026.2:p.(Lys1043Glu)	NC_000001.10:g.237713904A>G	VUS	1 lab	cf3fe0cbdb
1:234745180 IRF2BP2 G>A	1	234745180	234745180	G	A	IRF2BP2	c.61C>T	NM_182972.2	NP_892017.2:p.(Leu21=)	NC_000001.10:g.234745180G>A	(Likely) benign	1 lab	cf410b7bca
14:103371737 TRAF3 C>T	14	103371737	103371737	C	T	TRAF3	c.1323C>T	NM_145725.2	NP_663777.1:p.(Tyr441=)	NC_000014.8:g.103371737C>T	(Likely) benign	1 lab	cf41c7e083
12:133198117 P2RX2 C>T	12	133198117	133198117	C	T	P2RX2	c.1053C>T	NM_170683.3	NP_733783.1:p.(Ser351=)	NC_000012.11:g.133198117C>T	(Likely) benign	1 lab	cf4333a0f8
17:73624375 RECQL5 C>T	17	73624375	73624375	C	T	RECQL5	c.2728G>A	NM_004259.6	NP_004250.4:p.(Val910Ile)	NC_000017.10:g.73624375C>T	(Likely) benign	1 lab	cf43797036
X:77243785 ATP7A A>G	X	77243785	77243785	A	G	ATP7A	c.168A>G	NM_000052.6	NP_000043.4:p.(Leu56=)	NC_000023.10:g.77243785A>G	(Likely) benign	1 lab	cf4536e38d
8:55534713 RP1 G>A	8	55534713	55534713	G	A	RP1	c.652G>A	NM_006269.1	NP_006260.1:p.(Ala218Thr)	NC_000008.10:g.55534713G>A	VUS	1 lab	cf4595a91d
8:126052040 WASHC5 T>C	8	126052040	126052040	T	C	WASHC5	c.2951A>G	NM_014846.3	NP_055661.3:p.(Asn984Ser)	NC_000008.10:g.126052040T>C	VUS	1 lab	cf468375fc
16:51175021 SALL1 G>C	16	51175021	51175021	G	C	SALL1	c.1112C>G	NM_002968.2	NP_002959.2:p.(Ser371Ter)	NC_000016.9:g.51175021G>C	(Likely) pathogenic	1 lab	cf471ca249
18:72998088 TSHZ1 C>T	18	72998088	72998088	C	T	TSHZ1	c.591C>T	NM_005786.5	NP_005777.3:p.(Gly197=)	NC_000018.9:g.72998088C>T	(Likely) benign	1 lab	cf47882761
22:19956072 COMT T>C	22	19956072	19956072	T	C	COMT	c.629T>C	NM_000754.3	NP_000745.1:p.(Leu210Pro)	NC_000022.10:g.19956072T>C	VUS	1 lab	cf4843c9ac
2:1652414 PXDN C>T	2	1652414	1652414	C	T	PXDN	c.3138G>A	NM_012293.2	NP_036425.1:p.(Thr1046=)	NC_000002.11:g.1652414C>T	(Likely) benign	1 lab	cf48ef9734
3:64132639 PRICKLE2 C>T	3	64132639	64132639	C	T	PRICKLE2	c.1527G>A	NM_198859.3	NP_942559.1:p.(Glu509=)	NC_000003.11:g.64132639C>T	(Likely) benign	1 lab	cf49e50935
X:152139014 ZNF185 G>A	X	152139014	152139014	G	A	ZNF185	c.2095G>A	NM_001178106.1	NP_001171577.1:p.(Asp699Asn)	NC_000023.10:g.152139014G>A	VUS	1 lab	cf4a221064
2:179669344 TTN G>A	2	179669344	179669344	G	A	TTN	c.26C>T	NM_001267550.1	NP_001254479.1:p.(Thr9Met)	NC_000002.11:g.179669344G>A	VUS	1 lab	cf4a4cb834
17:1638917 WDR81 C>T	17	1638917	1638917	C	T	WDR81	c.5231C>T	NM_001163809.1	NP_001157281.1:p.(Ala1744Val)	NC_000017.10:g.1638917C>T	VUS	1 lab	cf4bf57e49
10:56138547 PCDH15 T>C	10	56138547	56138547	T	C	PCDH15	c.313A>G	NM_001354429.1	NP_001341358.1:p.(Arg105Gly)	NC_000010.10:g.56138547T>C	VUS	1 lab	cf4c357afc
7:73020029 MLXIPL A>G	7	73020029	73020029	A	G	MLXIPL	c.890T>C	NM_032951.2	NP_116569.1:p.(Met297Thr)	NC_000007.13:g.73020029A>G	VUS	1 lab	cf4ef5b741
16:70551519 COG4 G>T	16	70551519	70551519	G	T	COG4	c.369+10C>A	NM_015386.2	NP_056201.2:p.?	NC_000016.9:g.70551519G>T	(Likely) benign	1 lab	cf4f79a3c8
17:3402280 ASPA C>T	17	3402280	3402280	C	T	ASPA				NC_000017.10:g.3402280C>T	(Likely) benign	1 lab	cf50752f09
1:45216170 KIF2C CAGG>C	1	45216170	45216175	CAGG	C	KIF2C	c.376_378del	NM_006845.4	NP_006836.2:p.(Glu126del)	NC_000001.10:g.45216173_45216175del	VUS	1 lab	cf51080642
X:31893387 DMD T>C	X	31893387	31893387	T	C	DMD	c.6647A>G	NM_004010.3	NP_004001.1:p.(His2216Arg)	NC_000023.10:g.31893387T>C	VUS	1 lab	cf5246772f
17:19566720 ALDH3A2 A>G	17	19566720	19566720	A	G	ALDH3A2	c.1015A>G	NM_001031806.1	NP_001026976.1:p.(Ile339Val)	NC_000017.10:g.19566720A>G	VUS	1 lab	cf54c70d4c
22:34046427 LARGE1 C>T	22	34046427	34046427	C	T	LARGE1	c.334G>A	NM_004737.5	NP_004728.1:p.(Glu112Lys)	NC_000022.10:g.34046427C>T	VUS	1 lab	cf56d84313
1:16378853 CLCNKB C>T	1	16378853	16378853	C	T	CLCNKB	c.1569C>T	NM_000085.4	NP_000076.2:p.(Thr523=)	NC_000001.10:g.16378853C>T	(Likely) benign	1 lab	cf5706001b
7:87060792 ABCB4 T>G	7	87060792	87060792	T	G	ABCB4	c.1821A>C	NM_018849.2	NP_061337.1:p.(Val607=)	NC_000007.13:g.87060792T>G	(Likely) benign	1 lab	cf5ab18f5d
14:64906976 MTHFD1 G>A	14	64906976	64906976	G	A	MTHFD1	c.1807G>A	NM_005956.4	NP_005947.3:p.(Glu603Lys)	NC_000014.8:g.64906976G>A	VUS	1 lab	cf5e55be4c
3:10302162 TATDN2 A>C	3	10302162	10302162	A	C	TATDN2	c.756A>C	NM_014760.4	NP_055575.3:p.(Ala252=)	NC_000003.11:g.10302162A>C	(Likely) benign	1 lab	cf6234cc94
1:55474144 BSND G>A	1	55474144	55474144	G	A	BSND	c.806G>A	NM_057176.3	NP_476517.1:p.(Arg269Gln)	NC_000001.10:g.55474144G>A	VUS	1 lab	cf62964123
X:151870061 MAGEA6 G>A	X	151870061	151870061	G	A	MAGEA6	c.751G>A	NM_175868.2	NP_787064.1:p.(Val251Met)	NC_000023.10:g.151870061G>A	(Likely) benign	1 lab	cf62e70cc2
5:60628342 ZSWIM6 G>T	5	60628342	60628342	G	T	ZSWIM6	c.243G>T	NM_020928.1	NP_065979.1:p.(Ala81=)	NC_000005.9:g.60628342G>T	(Likely) benign	1 lab	cf6310c3e5
4:100529960 MTTP G>A	4	100529960	100529960	G	A	MTTP	c.1595G>A	NM_000253.3	NP_000244.2:p.(Arg532His)	NC_000004.11:g.100529960G>A	(Likely) benign	1 lab	cf652935b7
X:66765115 AR G>T	X	66765115	66765115	G	T	AR	c.127G>T	NM_000044.4	NP_000035.2:p.(Glu43Ter)	NC_000023.10:g.66765115G>T	(Likely) pathogenic	1 lab	cf67551692
1:237787126 RYR2 G>A	1	237787126	237787126	G	A	RYR2	c.5978G>A	NM_001035.2	NP_001026.2:p.(Arg1993His)	NC_000001.10:g.237787126G>A	VUS	1 lab	cf68799399
5:149340544 SLC26A2 T>C	5	149340544	149340544	T	C	SLC26A2	c.-26+2T>C	NM_000112.3	NP_000103.2:p.?	NC_000005.9:g.149340544T>C	(Likely) pathogenic	1 lab	cf6981528e
1:220340884 RAB3GAP2 A>T	1	220340884	220340884	A	T	RAB3GAP2	c.2940T>A	NM_012414.3	NP_036546.2:p.(Leu980=)	NC_000001.10:g.220340884A>T	(Likely) benign	1 lab	cf6ac25593
15:89876827 POLGARF TTGCTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGCTGC	T	POLGARF	c.199_213del	NM_001430120.1	NP_001417049.1:p.(Ala67_Ala71del)	NC_000015.9:g.89876846_89876860del	(Likely) benign	1 lab	cf6b162a1a
20:3210219 SLC4A11 T>C	20	3210219	3210219	T	C	SLC4A11	c.1822A>G	NM_001174090.1	NP_001167561.1:p.(Met608Val)	NC_000020.10:g.3210219T>C	VUS	1 lab	cf6c3a4253
2:179587416 TTN C>G	2	179587416	179587416	C	G	TTN	c.22210G>C	NM_001267550.1	NP_001254479.1:p.(Ala7404Pro)	NC_000002.11:g.179587416C>G	VUS	1 lab	cf6dd4405a
X:50378623 SHROOM4 G>A	X	50378623	50378623	G	A	SHROOM4	c.450C>T	NM_020717.3	NP_065768.2:p.(Thr150=)	NC_000023.10:g.50378623G>A	(Likely) benign	1 lab	cf6e4258e9
8:100883872 VPS13B A>C	8	100883872	100883872	A	C	VPS13B	c.11767A>C	NM_017890.4	NP_060360.3:p.(Asn3923His)	NC_000008.10:g.100883872A>C	(Likely) benign	1 lab	cf6f8a723b
X:153296418 MECP2 G>A	X	153296418	153296418	G	A	MECP2	c.861C>T	NM_004992.3	NP_004983.1:p.(Ala287=)	NC_000023.10:g.153296418G>A	(Likely) benign	1 lab	cf6f9fd441
X:79989618 BRWD3 G>A	X	79989618	79989618	G	A	BRWD3	c.1085C>T	NM_153252.4	NP_694984.4:p.(Thr362Met)	NC_000023.10:g.79989618G>A	VUS	1 lab	cf7147fe07
12:40631803 LRRK2 A>C	12	40631803	40631803	A	C	LRRK2	c.469A>C	NM_198578.3	NP_940980.3:p.(Ser157Arg)	NC_000012.11:g.40631803A>C	(Likely) benign	1 lab	cf717ef42f
X:153171387 AVPR2 C>T	X	153171387	153171387	C	T	AVPR2	c.427C>T	NM_001146151.2	NP_001139623.1:p.(Arg143Cys)	NC_000023.10:g.153171387C>T	VUS	1 lab	cf7f07b245
22:50664719 TUBGCP6 G>A	22	50664719	50664719	G	A	TUBGCP6	c.1690C>T	NM_020461.3	NP_065194.2:p.(Arg564Ter)	NC_000022.10:g.50664719G>A	(Likely) pathogenic	1 lab	cf71ef3a17
7:1539158 INTS1 G>A	7	1539158	1539158	G	A	INTS1	c.795C>T	NM_001080453.3	NP_001073922.2:p.(Ser265=)	NC_000007.13:g.1539158G>A	(Likely) benign	1 lab	cf728bc46e
8:29194883 DUSP4 G>A	8	29194883	29194883	G	A	DUSP4	c.572C>T	NM_057158.3	NP_476499.1:p.(Ala191Val)	NC_000008.10:g.29194883G>A	VUS	1 lab	cf73694cb2
11:2190961 TH C>G	11	2190961	2190961	C	G	TH	c.324G>C	NM_199292.2	NP_954986.2:p.(Glu108Asp)	NC_000011.9:g.2190961C>G	(Likely) benign	1 lab	cf74e6003d
7:151699916 GALNTL5 T>C	7	151699916	151699916	T	C	GALNTL5	c.776T>C	NM_145292.4	NP_660335.2:p.(Ile259Thr)	NC_000007.13:g.151699916T>C	VUS	1 lab	cf76d60bbc
17:77709063 ENPP7 C>T	17	77709063	77709063	C	T	ENPP7	c.621C>T	NM_178543.4	NP_848638.3:p.(Pro207=)	NC_000017.10:g.77709063C>T	(Likely) benign	1 lab	cf78481d1a
19:16594759 CALR3 A>G	19	16594759	16594759	A	G	CALR3	c.660T>C	NM_145046.4	NP_659483.2:p.(Thr220=)	NC_000019.9:g.16594759A>G	(Likely) benign	1 lab	cf786e6791
9:133760647 ABL1 G>A	9	133760647	133760647	G	A	ABL1	c.3027G>A	NM_007313.2	NP_009297.2:p.(Ser1009=)	NC_000009.11:g.133760647G>A	(Likely) benign	1 lab	cf7aaa6526
9:71835855 TJP2 C>G	9	71835855	71835855	C	G	TJP2	c.395C>G	NM_004817.4	NP_004808.2:p.(Pro132Arg)	NC_000009.11:g.71835855C>G	(Likely) benign	1 lab	cf7e5baaac
X:22002541 SMS A>AT	X	22002541	22002548	A	AT	SMS	c.865+12dup	NM_004595.4	NP_004586.2:p.?	NC_000023.10:g.22002548dup	(Likely) benign	1 lab	cf7f23c637
8:144942767 EPPK1 G>A	8	144942767	144942767	G	A	EPPK1				NC_000008.10:g.144942767G>A	VUS	1 lab	cf80835ad6
8:145583521 SLC52A2 G>A	8	145583521	145583521	G	A	SLC52A2	c.369G>A	NM_024531.4	NP_078807.1:p.(Leu123=)	NC_000008.10:g.145583521G>A	(Likely) benign	1 lab	cf8322d122
2:220283782 DES GA>G	2	220283782	220283783	GA	G	DES	c.578+21del	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220283783del	(Likely) benign	1 lab	cf84b8d95e
2:197706066 PGAP1 T>C	2	197706066	197706066	T	C	PGAP1	c.2139A>G	NM_001321099.1	NP_001308028.1:p.(Pro713=)	NC_000002.11:g.197706066T>C	(Likely) benign	1 lab	cf84be14df
2:186670923 FSIP2 C>T	2	186670923	186670923	C	T	FSIP2	c.16890C>T	NM_173651.3	NP_775922.3:p.(Ser5630=)	NC_000002.11:g.186670923C>T	(Likely) benign	1 lab	cf874aaf85
14:74995314 LTBP2 T>C	14	74995314	74995314	T	C	LTBP2	c.2240A>G	NM_000428.2	NP_000419.1:p.(Glu747Gly)	NC_000014.8:g.74995314T>C	VUS	1 lab	cf87d93f46
7:151859899 KMT2C G>A	7	151859899	151859899	G	A	KMT2C	c.10763C>T	NM_170606.2	NP_733751.2:p.(Ser3588Leu)	NC_000007.13:g.151859899G>A	(Likely) benign	1 lab	cf8848efcc
12:75434927 KCNC2 G>A	12	75434927	75434927	G	A	KCNC2	c.1840C>T	NM_001260498.1	NP_001247427.1:p.(His614Tyr)	NC_000012.11:g.75434927G>A	(Likely) benign	1 lab	cf8a43dc4d
3:97852296 OR5H1 A>G	3	97852296	97852296	A	G	OR5H1	c.755A>G	NM_001005338.1	NP_001005338.1:p.(Tyr252Cys)	NC_000003.11:g.97852296A>G	VUS	1 lab	cf8b870296
8:145108191 OPLAH T>C	8	145108191	145108191	T	C	OPLAH	c.2792A>G	NM_017570.4	NP_060040.1:p.(Gln931Arg)	NC_000008.10:g.145108191T>C	(Likely) benign	1 lab	cf8cb02f2d
14:77750200 POMT2 C>T	14	77750200	77750200	C	T	POMT2	c.1593G>A	NM_013382.5	NP_037514.2:p.(Leu531=)	NC_000014.8:g.77750200C>T	(Likely) benign	1 lab	cf8ec20e58
14:92548717 ATXN3 TGCCAGAGCC>T	14	92548717	92548726	TGCCAGAGCC	T	ATXN3	c.693_701del	NM_004993.6	NP_004984.2:p.(Ala232_Ala234del)	NC_000014.8:g.92548718_92548726del	VUS	1 lab	cf8ed5b61f
17:29586048 NF1 A>G	17	29586048	29586048	A	G	NF1	c.4270-2A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29586048A>G	(Likely) pathogenic	1 lab	cf8f314b5c
9:139399180 NOTCH1 C>G	9	139399180	139399180	C	G	NOTCH1	c.4963G>C	NM_017617.5	NP_060087.3:p.(Gly1655Arg)	NC_000009.11:g.139399180C>G	VUS	1 lab	cf8fedd5a1
12:21015414 SLCO1B3 G>A	12	21015414	21015414	G	A	SLCO1B3	c.550G>A	NM_019844.3	NP_062818.1:p.(Gly184Arg)	NC_000012.11:g.21015414G>A	VUS	1 lab	cf90217baf
16:27689204 KATNIP C>T	16	27689204	27689204	C	T	KATNIP	c.695C>T	NM_015202.3	NP_056017.3:p.(Pro232Leu)	NC_000016.9:g.27689204C>T	(Likely) benign	1 lab	cf92dd6476
13:114542717 GAS6 GC>G	13	114542717	114542724	GC	G	GAS6	c.449del	NM_000820.4	NP_000811.1:p.(Gly150AlafsTer49)	NC_000013.10:g.114542724del	VUS	1 lab	cf9570287a
3:157289806 SLC66A1LP C>G	3	157289806	157289806	C	G	SLC66A1LP	c.276C>G	NM_001130002.2	NP_001123474.1:p.(Tyr92Ter)	NC_000003.11:g.157289806C>G	VUS	1 lab	cf95cbd334
9:13150558 MPDZ A>C	9	13150558	13150558	A	C	MPDZ	c.3582T>G	NM_003829.4	NP_003820.2:p.(Ser1194Arg)	NC_000009.11:g.13150558A>C	(Likely) benign	1 lab	cf95e20b67
21:46916502 COL18A1 A>G	21	46916502	46916502	A	G	COL18A1	c.2577+20A>G	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46916502A>G	(Likely) benign	1 lab	cf96060630
19:1221940 STK11 CTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGT>C	19	1221940	1221979	CTCCTCAGGGATGCTTGAGTACGAACCGGCCAAGAGGT	C	STK11	c.863-5_894del	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1221943_1221979del	(Likely) pathogenic	1 lab	cf97295448
15:23890707 MAGEL2 C>T	15	23890707	23890707	C	T	MAGEL2	c.2183G>A	NM_019066.4	NP_061939.3:p.(Arg728His)	NC_000015.9:g.23890707C>T	VUS	1 lab	cf97559c55
16:84203679 DNAAF1 C>G	16	84203679	84203679	C	G	DNAAF1	c.1245C>G	NM_178452.5	NP_848547.4:p.(Thr415=)	NC_000016.9:g.84203679C>G	(Likely) benign	1 lab	cf98b51896
14:102476593 DYNC1H1 C>T	14	102476593	102476593	C	T	DYNC1H1	c.6222-20C>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102476593C>T	(Likely) benign	1 lab	cf98ef8053
2:63714578 WDPCP T>C	2	63714578	63714578	T	C	WDPCP	c.208+3A>G	NM_015910.6	NP_056994.3:p.?	NC_000002.11:g.63714578T>C	VUS	1 lab	cf9a810fb4
X:21871563 MBTPS2 G>A	X	21871563	21871563	G	A	MBTPS2	c.612G>A	NM_015884.3	NP_056968.1:p.(Leu204=)	NC_000023.10:g.21871563G>A	(Likely) benign	1 lab	cf9aca5e91
10:16918948 CUBN G>T	10	16918948	16918948	G	T	CUBN	c.9054C>A	NM_001081.3	NP_001072.2:p.(Tyr3018Ter)	NC_000010.10:g.16918948G>T	VUS	1 lab	cf9b846bb2
11:78574164 TENM4 A>G	11	78574164	78574164	A	G	TENM4	c.1098T>C	NM_001098816.2	NP_001092286.2:p.(Phe366=)	NC_000011.9:g.78574164A>G	(Likely) benign	1 lab	cf9c2d7a5a
12:102163814 GNPTAB G>A	12	102163814	102163814	G	A	GNPTAB	c.1269C>T	NM_024312.4	NP_077288.2:p.(His423=)	NC_000012.11:g.102163814G>A	(Likely) benign	1 lab	cf9ccffd8a
19:49469927 FTL C>T	19	49469927	49469927	C	T	FTL	c.463C>T	NM_000146.3	NP_000137.2:p.(Leu155=)	NC_000019.9:g.49469927C>T	VUS	1 lab	cf9d168841
2:71597064 ZNF638 A>T	2	71597064	71597064	A	T	ZNF638	c.2194A>T	NM_001252612.1	NP_001239541.1:p.(Ile732Phe)	NC_000002.11:g.71597064A>T	VUS	1 lab	cf9eb94c5b
X:100490866 DRP2 C>T	X	100490866	100490866	C	T	DRP2	c.135C>T	NM_001939.2	NP_001930.2:p.(Thr45=)	NC_000023.10:g.100490866C>T	(Likely) benign	1 lab	cf9ee69e20
X:135405206 ADGRG4 C>T	X	135405206	135405206	C	T	ADGRG4	c.340C>T	NM_153834.3	NP_722576.3:p.(Leu114=)	NC_000023.10:g.135405206C>T	(Likely) benign	1 lab	cf9f517859
X:105868444 RADX A>G	X	105868444	105868444	A	G	RADX	c.911A>G	NM_018015.5	NP_060485.4:p.(Lys304Arg)	NC_000023.10:g.105868444A>G	(Likely) benign	1 lab	cf9fd850b8
8:22054231 BMP1 A>G	8	22054231	22054231	A	G	BMP1	c.1804A>G	NM_006129.4	NP_006120.1:p.(Ile602Val)	NC_000008.10:g.22054231A>G	VUS	1 lab	cfa215fbed
1:17349159 SDHB G>A	1	17349159	17349159	G	A	SDHB	c.709C>T	NM_003000.2	NP_002991.2:p.(Pro237Ser)	NC_000001.10:g.17349159G>A	(Likely) benign	1 lab	cfa2396967
X:100629630 BTK G>A	X	100629630	100629630	G	A	BTK	c.244-8C>T	NM_001287344.1	NP_001274273.1:p.?	NC_000023.10:g.100629630G>A	(Likely) benign	1 lab	cfa3360013
16:75590048 TMEM231 G>A	16	75590048	75590048	G	A	TMEM231	c.122C>T	NM_001077416.2	NP_001070884.2:p.(Ala41Val)	NC_000016.9:g.75590048G>A	VUS	1 lab	cfa48e0414
15:91303908 BLM T>C	15	91303908	91303908	T	C	BLM	c.180T>C	NM_001287248.1	NP_001274177.1:p.(Leu60=)	NC_000015.9:g.91303908T>C	(Likely) benign	1 lab	cfa4db9388
4:128886284 MFSD8 G>A	4	128886284	128886284	G	A	MFSD8	c.5C>T	NM_152778.2	NP_689991.1:p.(Ala2Val)	NC_000004.11:g.128886284G>A	(Likely) benign	1 lab	cfa4e00e9d
11:34982064 PDHX G>C	11	34982064	34982064	G	C	PDHX	c.640G>C	NM_003477.2	NP_003468.2:p.(Glu214Gln)	NC_000011.9:g.34982064G>C	VUS	1 lab	cfa530967a
11:62156700 ASRGL1 G>A	11	62156700	62156700	G	A	ASRGL1	c.587G>A	NM_001083926.2	NP_001077395.1:p.(Arg196His)	NC_000011.9:g.62156700G>A	VUS	1 lab	cfa560f973
20:32436269 CHMP4B G>T	20	32436269	32436269	G	T	CHMP4B	c.191-4G>T	NM_176812.4	NP_789782.1:p.?	NC_000020.10:g.32436269G>T	(Likely) benign	1 lab	cfa5f65628
19:41008068 SPTBN4 A>T	19	41008068	41008068	A	T	SPTBN4	c.931A>T	NM_020971.2	NP_066022.2:p.(Ile311Leu)	NC_000019.9:g.41008068A>T	VUS	1 lab	cfa6c77998
3:142274739 ATR AT>A	3	142274739	142274749	AT	A	ATR	c.2320del	NM_001184.4	NP_001175.2:p.(Ile774TyrfsTer5)	NC_000003.11:g.142274749del	(Likely) benign	1 lab	cfa6da0fb1
18:43496044 EPG5 T>C	18	43496044	43496044	T	C	EPG5	c.3512A>G	NM_020964.3	NP_066015.2:p.(His1171Arg)	NC_000018.9:g.43496044T>C	VUS	1 lab	cfa9b87429
11:6653723 DCHS1 A>C	11	6653723	6653723	A	C	DCHS1				NC_000011.9:g.6653723A>C	VUS	1 lab	cfac88c5e5
22:32875119 FBXO7 G>C	22	32875119	32875119	G	C	FBXO7	c.274G>C	NM_012179.3	NP_036311.3:p.(Asp92His)	NC_000022.10:g.32875119G>C	VUS	1 lab	cfad87a9e8
7:21784472 DNAH11 C>G	7	21784472	21784472	C	G	DNAH11				NC_000007.13:g.21784472C>G	(Likely) benign	1 lab	cfad8c26c9
7:107334932 SLC26A4 C>A	7	107334932	107334932	C	A	SLC26A4	c.1341+7C>A	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107334932C>A	(Likely) benign	1 lab	cfaea6a352
21:46330665 ITGB2 C>G	21	46330665	46330665	C	G	ITGB2	c.33G>C	NM_000211.3	NP_000202.2:p.(Leu11=)	NC_000021.8:g.46330665C>G	(Likely) benign	1 lab	cfaf9996aa
19:17038819 MISSING C>T	19	17038819	17038819	C	T	MISSING				NC_000019.9:g.17038819C>T	VUS	1 lab	cfb123f3c2
2:15629129 NBAS C>T	2	15629129	15629129	C	T	NBAS	c.972G>A	NM_015909.4	NP_056993.2:p.(Met324Ile)	NC_000002.11:g.15629129C>T	VUS	1 lab	0222290710
6:109798128 ZBTB24 G>A	6	109798128	109798128	G	A	ZBTB24	c.958C>T	NM_014797.2	NP_055612.2:p.(Arg320Ter)	NC_000006.11:g.109798128G>A	(Likely) pathogenic	1 lab	cfb337e5f0
6:170871034 TBP G>A	6	170871034	170871034	G	A	TBP	c.210G>A	NM_003194.4	NP_003185.1:p.(Gln70=)	NC_000006.11:g.170871034G>A	(Likely) benign	1 lab	cfb3578f22
19:1483709 PCSK4 C>T	19	1483709	1483709	C	T	PCSK4	c.1331G>A	NM_017573.4	NP_060043.2:p.(Arg444His)	NC_000019.9:g.1483709C>T	(Likely) benign	1 lab	cfb360d3f3
4:151358023 LRBA A>G	4	151358023	151358023	A	G	LRBA	c.6781-7T>C	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151358023A>G	(Likely) benign	1 lab	cfb45a2f6f
8:42297141 SLC20A2 C>T	8	42297141	42297141	C	T	SLC20A2	c.761G>A	NM_001257180.2	NP_001244109.1:p.(Arg254Gln)	NC_000008.10:g.42297141C>T	VUS	1 lab	cfb4af4b00
16:2814964 SRRM2 G>A	16	2814964	2814964	G	A	SRRM2	c.4435G>A	NM_016333.4	NP_057417.3:p.(Glu1479Lys)	NC_000016.9:g.2814964G>A	VUS	1 lab	cfb55d8bf2
17:41062964 G6PC1 C>T	17	41062964	41062964	C	T	G6PC1	c.518C>T	NM_001270397.1	NP_001257326.1:p.(Pro173Leu)	NC_000017.10:g.41062964C>T	VUS	1 lab	cfb805bd31
22:31336789 MORC2 C>A	22	31336789	31336789	C	A	MORC2	c.674G>T	NM_014941.3	NP_055756.1:p.(Arg225Leu)	NC_000022.10:g.31336789C>A	VUS	1 lab	cfc674759a
18:6964812 LAMA1 G>A	18	6964812	6964812	G	A	LAMA1	c.7196-10C>T	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6964812G>A	(Likely) benign	1 lab	cfbbc7fc7c
7:5680916 RNF216 G>A	7	5680916	5680916	G	A	RNF216	c.2251C>T	NM_207111.3	NP_996994.1:p.(Arg751Cys)	NC_000007.13:g.5680916G>A	VUS	1 lab	cfbcaecd2a
2:208988958 CRYGD T>C	2	208988958	208988958	T	C	CRYGD	c.130A>G	NM_006891.3	NP_008822.2:p.(Met44Val)	NC_000002.11:g.208988958T>C	(Likely) benign	1 lab	cfc04e2e52
2:121745909 GLI2 G>A	2	121745909	121745909	G	A	GLI2	c.2419G>A	NM_005270.4	NP_005261.2:p.(Asp807Asn)	NC_000002.11:g.121745909G>A	VUS	1 lab	cfc0880a6a
6:118880263 PLN G>C	6	118880263	118880263	G	C	PLN	c.*20G>C	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880263G>C	VUS	1 lab	cfc099145d
5:98216980 CHD1 T>A	5	98216980	98216980	T	A	CHD1	c.2964+3A>T	NM_001364113.1	NP_001351042.1:p.?	NC_000005.9:g.98216980T>A	(Likely) benign	1 lab	cfc10d2b27
12:116434406 MED13L C>T	12	116434406	116434406	C	T	MED13L	c.2871G>A	NM_015335.4	NP_056150.1:p.(Pro957=)	NC_000012.11:g.116434406C>T	(Likely) benign	1 lab	cfc146a319
16:11016070 CIITA C>T	16	11016070	11016070	C	T	CIITA	c.3199C>T	NM_001286402.1	NP_001273331.1:p.(Arg1067Cys)	NC_000016.9:g.11016070C>T	VUS	1 lab	cfc39d3912
17:80545003 FOXK2 G>C	17	80545003	80545003	G	C	FOXK2	c.1641G>C	NM_004514.4	NP_004505.2:p.(Gln547His)	NC_000017.10:g.80545003G>C	VUS	1 lab	cfc3f41514
2:238267872 COL6A3 G>C	2	238267872	238267872	G	C	COL6A3	c.6331C>G	NM_004369.3	NP_004360.2:p.(Leu2111Val)	NC_000002.11:g.238267872G>C	VUS	1 lab	cfc4f5247e
16:2158955 PKD1 G>A	16	2158955	2158955	G	A	PKD1	c.6213C>T	NM_001009944.2	NP_001009944.2:p.(Cys2071=)	NC_000016.9:g.2158955G>A	(Likely) benign	1 lab	cfc642326e
6:152540300 SYNE1 G>T	6	152540300	152540300	G	T	SYNE1	c.21882C>A	NM_182961.3	NP_892006.3:p.(Gly7294=)	NC_000006.11:g.152540300G>T	(Likely) benign	1 lab	cfc6a2793e
17:29654809 NF1 TGCTCAATATC>T	17	29654809	29654821	TGCTCAATATC	T	NF1	c.5564_5573del	NM_001042492.3	NP_001035957.1:p.(Leu1855HisfsTer5)	NC_000017.10:g.29654812_29654821del	(Likely) pathogenic	1 lab	cfc711257f
10:71129258 HK1 C>T	10	71129258	71129258	C	T	HK1	c.858C>T	NM_001322365.1	NP_001309294.1:p.(Asp286=)	NC_000010.10:g.71129258C>T	(Likely) benign	1 lab	cfc789a63b
2:216274718 FN1 G>A	2	216274718	216274718	G	A	FN1	c.2061C>T	NM_212482.2	NP_997647.1:p.(Tyr687=)	NC_000002.11:g.216274718G>A	(Likely) benign	1 lab	cfc7f46b37
8:22013900 MISSING G>C	8	22013900	22013900	G	C	MISSING				NC_000008.10:g.22013900G>C	VUS	1 lab	cfc8d02ded
6:31932123 SKIC2 C>G	6	31932123	31932123	C	G	SKIC2	c.1971+4C>G	NM_006929.4	NP_008860.4:p.?	NC_000006.11:g.31932123C>G	(Likely) benign	1 lab	cfca18e182
16:2122338 TSC2 C>T	16	2122338	2122338	C	T	TSC2	c.2194C>T	NM_000548.3	NP_000539.2:p.(Gln732Ter)	NC_000016.9:g.2122338C>T	(Likely) pathogenic	1 lab	cfca751e8c
X:96140047 RPA4 C>T	X	96140047	96140047	C	T	RPA4	c.738C>T	NM_013347.4	NP_037479.1:p.(Gly246=)	NC_000023.10:g.96140047C>T	(Likely) benign	1 lab	cfcaf8772b
16:2328078 ABCA3 G>A	16	2328078	2328078	G	A	ABCA3	c.4719-8C>T	NM_001089.2	NP_001080.2:p.?	NC_000016.9:g.2328078G>A	(Likely) benign	1 lab	cfcb92f6aa
12:39752141 KIF21A C>G	12	39752141	39752141	C	G	KIF21A	c.1054G>C	NM_001173464.1	NP_001166935.1:p.(Asp352His)	NC_000012.11:g.39752141C>G	VUS	1 lab	cfcce6f593
11:108253850 C11orf65 T>C	11	108253850	108253850	T	C	C11orf65	c.840A>G	NM_152587.4	NP_689800.3:p.(Ile280Met)	NC_000011.9:g.108253850T>C	(Likely) benign	1 lab	cfcee6ad1c
8:10467991 RP1L1 C>T	8	10467991	10467991	C	T	RP1L1	c.3617G>A	NM_178857.5	NP_849188.4:p.(Gly1206Asp)	NC_000008.10:g.10467991C>T	VUS	1 lab	cfd0b4df30
3:38674776 SCN5A C>T	3	38674776	38674776	C	T	SCN5A	c.23G>A	NM_001099404.1	NP_001092874.1:p.(Arg8Gln)	NC_000003.11:g.38674776C>T	VUS	1 lab	cfd12f3944
12:114823368 TBX5 G>A	12	114823368	114823368	G	A	TBX5	c.668C>T	NM_000192.3	NP_000183.2:p.(Thr223Met)	NC_000012.11:g.114823368G>A	(Likely) pathogenic	1 lab	cfd5cdb54e
2:179296821 PRKRA G>A	2	179296821	179296821	G	A	PRKRA	c.*3C>T	NM_003690.4	NP_003681.1:p.?	NC_000002.11:g.179296821G>A	(Likely) benign	1 lab	cfd67e37fb
13:32929267 BRCA2 T>C	13	32929267	32929267	T	C	BRCA2	c.7277T>C	NM_000059.3	NP_000050.2:p.(Ile2426Thr)	NC_000013.10:g.32929267T>C	(Likely) benign	1 lab	cfd7068f2f
5:13721171 DNAH5 C>T	5	13721171	13721171	C	T	DNAH5	c.12217G>A	NM_001369.2	NP_001360.1:p.(Val4073Met)	NC_000005.9:g.13721171C>T	VUS	1 lab	cfd8cecdf5
9:27548334 C9orf72 A>G	9	27548334	27548334	A	G	C9orf72	c.1346T>C	NM_001256054.1	NP_001242983.1:p.(Met449Thr)	NC_000009.11:g.27548334A>G	VUS	1 lab	cfd9257926
17:74014546 EVPL C>A	17	74014546	74014546	C	A	EVPL	c.1420G>T	NM_001988.3	NP_001979.2:p.(Ala474Ser)	NC_000017.10:g.74014546C>A	(Likely) benign	1 lab	cfdaa6d724
13:48528650 SUCLA2 G>A	13	48528650	48528650	G	A	SUCLA2	c.845C>T	NM_003850.2	NP_003841.1:p.(Ala282Val)	NC_000013.10:g.48528650G>A	VUS	1 lab	cfdb9ba7dc
22:37331458 CSF2RB C>T	22	37331458	37331458	C	T	CSF2RB	c.1381C>T	NM_000395.2	NP_000386.1:p.(Arg461Cys)	NC_000022.10:g.37331458C>T	VUS	1 lab	cfe163ce78
X:153581138 FLNA A>AC	X	153581138	153581140	A	AC	FLNA	c.6379+1dup	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153581140dup	(Likely) pathogenic	1 lab	cfe20bae43
10:13178750 OPTN G>C	10	13178750	13178750	G	C	OPTN	c.1618G>C	NM_001008211.1	NP_001008212.1:p.(Glu540Gln)	NC_000010.10:g.13178750G>C	VUS	1 lab	cfe2e99cd1
17:76121844 TMC6 G>A	17	76121844	76121844	G	A	TMC6	c.393C>T	NM_001127198.2	NP_001120670.1:p.(Tyr131=)	NC_000017.10:g.76121844G>A	(Likely) benign	1 lab	cfe3771ae4
6:152655352 SYNE1 C>A	6	152655352	152655352	C	A	SYNE1	c.12585G>T	NM_182961.3	NP_892006.3:p.(Lys4195Asn)	NC_000006.11:g.152655352C>A	VUS	1 lab	cfe539e72d
11:118392887 KMT2A A>G	11	118392887	118392887	A	G	KMT2A	c.11919A>G	NM_001197104.1	NP_001184033.1:p.(Ter3973=)	NC_000011.9:g.118392887A>G	(Likely) benign	1 lab	cfe6c7256f
11:726090 EPS8L2 C>T	11	726090	726090	C	T	EPS8L2	c.1681-8C>T	NM_022772.3	NP_073609.2:p.?	NC_000011.9:g.726090C>T	(Likely) benign	1 lab	cfe77651b3
X:69670634 DLG3 G>A	X	69670634	69670634	G	A	DLG3	c.985+1G>A	NM_021120.3	NP_066943.2:p.?	NC_000023.10:g.69670634G>A	(Likely) pathogenic	1 lab	cfe807c509
19:40419999 FCGBP G>C	19	40419999	40419999	G	C	FCGBP	c.2995C>G	NM_003890.2	NP_003881.2:p.(Leu999Val)	NC_000019.9:g.40419999G>C	(Likely) benign	1 lab	cfe817abb6
8:10467753 RP1L1 C>T	8	10467753	10467753	C	T	RP1L1	c.3855G>A	NM_178857.5	NP_849188.4:p.(Ala1285=)	NC_000008.10:g.10467753C>T	(Likely) benign	1 lab	cfe93a3aee
X:99920355 SRPX2 T>C	X	99920355	99920355	T	C	SRPX2	c.648T>C	NM_014467.2	NP_055282.1:p.(Gly216=)	NC_000023.10:g.99920355T>C	(Likely) benign	1 lab	cfea2677dd
17:7576961 TP53 A>C	17	7576961	7576961	A	C	TP53	c.920-35T>G	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7576961A>C	(Likely) benign	1 lab	c380064c70
15:25650627 UBE3A C>T	15	25650627	25650627	C	T	UBE3A	c.52G>A	NM_000462.5	NP_000453.2:p.(Asp18Asn)	NC_000015.9:g.25650627C>T	(Likely) benign	1 lab	cfea2dc2a0
16:2120479 TSC2 C>CA	16	2120479	2120481	C	CA	TSC2	c.1741dup	NM_000548.3	NP_000539.2:p.(Ser581LysfsTer8)	NC_000016.9:g.2120481dup	(Likely) pathogenic	1 lab	cfeb49fa5d
19:51885751 LIM2 G>A	19	51885751	51885751	G	A	LIM2	c.372C>T	NM_030657.3	NP_085915.2:p.(Gly124=)	NC_000019.9:g.51885751G>A	VUS	1 lab	cfeb68313e
19:9578059 ZNF560 C>A	19	9578059	9578059	C	A	ZNF560	c.1564G>T	NM_152476.2	NP_689689.2:p.(Gly522Trp)	NC_000019.9:g.9578059C>A	VUS	1 lab	cfec76e5de
X:129190068 BCORL1 G>T	X	129190068	129190068	G	T	BCORL1	c.5315G>T	NM_001184772.2	NP_001171701.1:p.(Arg1772Leu)	NC_000023.10:g.129190068G>T	VUS	1 lab	cfefe223b6
15:45386382 DUOX2 C>T	15	45386382	45386382	C	T	DUOX2	c.4613G>A	NM_001363711.1	NP_001350640.1:p.(Arg1538Gln)	NC_000015.9:g.45386382C>T	(Likely) benign	1 lab	cff02aa2c3
7:127894623 LEP T>G	7	127894623	127894623	T	G	LEP	c.311T>G	NM_000230.2	NP_000221.1:p.(Leu104Arg)	NC_000007.13:g.127894623T>G	VUS	1 lab	cff0518557
19:16688192 MED26 C>T	19	16688192	16688192	C	T	MED26	c.449G>A	NM_004831.3	NP_004822.2:p.(Arg150Gln)	NC_000019.9:g.16688192C>T	(Likely) benign	1 lab	cff07dba46
22:51117830 MISSING C>T	22	51117830	51117830	C	T	MISSING				NC_000022.10:g.51117830C>T	(Likely) benign	1 lab	cff0a04fe7
X:37028107 FAM47C A>G	X	37028107	37028107	A	G	FAM47C	c.1624A>G	NM_001013736.2	NP_001013758.1:p.(Ser542Gly)	NC_000023.10:g.37028107A>G	(Likely) benign	1 lab	cff3379a05
X:48544484 WAS C>T	X	48544484	48544484	C	T	WAS	c.520C>T	NM_000377.2	NP_000368.1:p.(Leu174Phe)	NC_000023.10:g.48544484C>T	(Likely) benign	1 lab	cff366096a
1:216062076 USH2A A>G	1	216062076	216062076	A	G	USH2A	c.7915T>C	NM_206933.2	NP_996816.2:p.(Ser2639Pro)	NC_000001.10:g.216062076A>G	VUS	1 lab	cff76b719a
10:126097420 OAT A>G	10	126097420	126097420	A	G	OAT	c.314T>C	NM_001322966.1	NP_001309895.1:p.(Val105Ala)	NC_000010.10:g.126097420A>G	(Likely) benign	1 lab	cffcb5bc08
11:44253921 EXT2 G>C	11	44253921	44253921	G	C	EXT2	c.1711G>C	NM_001178083.1	NP_001171554.1:p.(Asp571His)	NC_000011.9:g.44253921G>C	VUS	1 lab	cffd211e29
X:100748374 ARMCX4 G>A	X	100748374	100748374	G	A	ARMCX4	c.4798G>A	NM_001256155.2	NP_001243084.2:p.(Gly1600Arg)	NC_000023.10:g.100748374G>A	VUS	1 lab	cffd46271f
19:10610236 KEAP1 A>G	19	10610236	10610236	A	G	KEAP1	c.474T>C	NM_203500.2	NP_987096.1:p.(Gly158=)	NC_000019.9:g.10610236A>G	(Likely) benign	1 lab	d000401891
1:11187893 MTOR T>C	1	11187893	11187893	T	C	MTOR	c.6034-30A>G	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11187893T>C	(Likely) benign	1 lab	d00132cde1
X:34962349 FAM47B G>C	X	34962349	34962349	G	C	FAM47B	c.1401G>C	NM_152631.2	NP_689844.2:p.(Lys467Asn)	NC_000023.10:g.34962349G>C	(Likely) benign	1 lab	d001cc5f81
11:26568997 ANO3 G>C	11	26568997	26568997	G	C	ANO3	c.1372G>C	NM_001313726.1	NP_001300655.1:p.(Ala458Pro)	NC_000011.9:g.26568997G>C	VUS	1 lab	d00c63d9c8
10:124812487 ACADSB A>G	10	124812487	124812487	A	G	ACADSB	c.1129-90A>G	NM_001609.3	NP_001600.1:p.?	NC_000010.10:g.124812487A>G	(Likely) benign	1 lab	d00d816326
17:7578290 TP53 C>T	17	7578290	7578290	C	T	TP53	c.560-1G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7578290C>T	(Likely) pathogenic	1 lab	cd9983b453
X:134983829 SAGE1 T>A	X	134983829	134983829	T	A	SAGE1	c.199T>A	NM_018666.2	NP_061136.2:p.(Ser67Thr)	NC_000023.10:g.134983829T>A	(Likely) benign	1 lab	d00e6e5b9e
8:17491606 PDGFRL A>G	8	17491606	17491606	A	G	PDGFRL	c.823A>G	NM_006207.2	NP_006198.1:p.(Thr275Ala)	NC_000008.10:g.17491606A>G	VUS	1 lab	d01058b081
7:103159939 RELN C>T	7	103159939	103159939	C	T	RELN	c.7693G>A	NM_173054.2	NP_774959.1:p.(Val2565Met)	NC_000007.13:g.103159939C>T	VUS	1 lab	d010e575cd
11:22646297 FANCF G>A	11	22646297	22646297	G	A	FANCF	c.1060C>T	NM_022725.3	NP_073562.1:p.(Leu354Phe)	NC_000011.9:g.22646297G>A	VUS	1 lab	d0115d8232
22:46782462 CELSR1 G>A	22	46782462	46782462	G	A	CELSR1	c.6576C>T	NM_014246.1	NP_055061.1:p.(Ser2192=)	NC_000022.10:g.46782462G>A	(Likely) benign	1 lab	d0121ba222
16:71795472 AP1G1 T>G	16	71795472	71795472	T	G	AP1G1	c.928-2A>C	NM_001030007.1	NP_001025178.1:p.?	NC_000016.9:g.71795472T>G	VUS	1 lab	d012f38c04
4:155670146 LRAT CTG>C	4	155670146	155670150	CTG	C	LRAT	c.554_555del	NM_004744.5	NP_004735.2:p.(Val185GlufsTer6)	NC_000004.11:g.155670149_155670150del	(Likely) pathogenic	1 lab	d0130a5240
3:71064738 FOXP1 G>A	3	71064738	71064738	G	A	FOXP1	c.936C>T	NM_001349338.1	NP_001336267.1:p.(Gly312=)	NC_000003.11:g.71064738G>A	(Likely) benign	1 lab	d01311319b
1:19203918 ALDH4A1 C>G	1	19203918	19203918	C	G	ALDH4A1	c.1129G>C	NM_003748.4	NP_003739.2:p.(Val377Leu)	NC_000001.10:g.19203918C>G	VUS	1 lab	d0135a80d5
6:52101876 IL17F G>T	6	52101876	52101876	G	T	IL17F	c.345C>A	NM_052872.3	NP_443104.1:p.(Asp115Glu)	NC_000006.11:g.52101876G>T	VUS	1 lab	d013720b17
5:174156225 MSX2 C>T	5	174156225	174156225	C	T	MSX2	c.443C>T	NM_002449.4	NP_002440.2:p.(Pro148Leu)	NC_000005.9:g.174156225C>T	(Likely) pathogenic	1 lab	d0139fe0bd
16:14041764 ERCC4 TC>T	16	14041764	14041767	TC	T	ERCC4	c.2314del	NM_005236.3	NP_005227.1:p.(Arg772GlufsTer45)	NC_000016.9:g.14041767del	(Likely) pathogenic	1 lab	d014dc77bd
7:128482624 FLNC C>T	7	128482624	128482624	C	T	FLNC	c.2266-5C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128482624C>T	(Likely) benign	1 lab	d014dde0ab
7:30491372 NOD1 G>A	7	30491372	30491372	G	A	NOD1	c.1661C>T	NM_006092.3	NP_006083.1:p.(Ala554Val)	NC_000007.13:g.30491372G>A	(Likely) benign	1 lab	d0155ad8ba
14:73086698 DPF3 G>A	14	73086698	73086698	G	A	DPF3	c.985-6C>T	NM_001280542.1	NP_001267471.1:p.?	NC_000014.8:g.73086698G>A	(Likely) benign	1 lab	d016fb33af
17:13980185 COX10 C>T	17	13980185	13980185	C	T	COX10	c.311C>T	NM_001303.3	NP_001294.2:p.(Pro104Leu)	NC_000017.10:g.13980185C>T	(Likely) benign	1 lab	d01760261a
5:149212303 PPARGC1B G>A	5	149212303	149212303	G	A	PPARGC1B	c.667G>A	NM_133263.3	NP_573570.3:p.(Ala223Thr)	NC_000005.9:g.149212303G>A	(Likely) benign	1 lab	d017d0a279
14:74706512 VSX2 G>T	14	74706512	74706512	G	T	VSX2	c.248G>T	NM_182894.2	NP_878314.1:p.(Gly83Val)	NC_000014.8:g.74706512G>T	VUS	1 lab	d018b9857d
20:35075182 DLGAP4 C>T	20	35075182	35075182	C	T	DLGAP4	c.1490C>T	NM_014902.5	NP_055717.2:p.(Thr497Met)	NC_000020.10:g.35075182C>T	(Likely) benign	1 lab	d01976093a
X:53111758 TSPYL2 C>CCCGCCG	X	53111758	53111780	C	CCCGCCG	TSPYL2	c.95_100dup	NM_022117.3	NP_071400.1:p.(Pro32_Pro33dup)	NC_000023.10:g.53111775_53111780dup	(Likely) benign	1 lab	d01aa44d33
21:47783616 PCNT A>C	21	47783616	47783616	A	C	PCNT	c.2376A>C	NM_006031.5	NP_006022.3:p.(Arg792=)	NC_000021.8:g.47783616A>C	(Likely) benign	1 lab	d01c1f22cc
19:2121215 AP3D1 C>T	19	2121215	2121215	C	T	AP3D1	c.1197G>A	NM_001261826.3	NP_001248755.1:p.(Lys399=)	NC_000019.9:g.2121215C>T	(Likely) benign	1 lab	d01cf223f1
2:29293523 PCARE C>T	2	29293523	29293523	C	T	PCARE	c.3605G>A	NM_001029883.2	NP_001025054.1:p.(Arg1202Gln)	NC_000002.11:g.29293523C>T	VUS	1 lab	d01cf936f8
X:19031986 ADGRG2 G>C	X	19031986	19031986	G	C	ADGRG2	c.917C>G	NM_001079858.2	NP_001073327.1:p.(Pro306Arg)	NC_000023.10:g.19031986G>C	VUS	1 lab	d01cfcd7e9
2:152396897 NEB G>A	2	152396897	152396897	G	A	NEB	c.20853C>T	NM_001271208.1	NP_001258137.1:p.(Ile6951=)	NC_000002.11:g.152396897G>A	(Likely) benign	1 lab	d01f5703ee
17:1265266 YWHAE G>A	17	1265266	1265266	G	A	YWHAE	c.301C>T	NM_006761.4	NP_006752.1:p.(Leu101=)	NC_000017.10:g.1265266G>A	(Likely) benign	1 lab	d0220a7dd0
19:13318278 CACNA1A G>T	19	13318278	13318278	G	T	CACNA1A	c.7388C>A	NM_023035.2	NP_075461.2:p.(Ala2463Asp)	NC_000019.9:g.13318278G>T	(Likely) benign	1 lab	d0240e358e
15:62360253 C2CD4A C>G	15	62360253	62360253	C	G	C2CD4A	c.441C>G	NM_207322.3	NP_997205.2:p.(Thr147=)	NC_000015.9:g.62360253C>G	(Likely) benign	1 lab	d02455c056
3:142281971 ATR G>A	3	142281971	142281971	G	A	ATR	c.293-20C>T	NM_001184.3	NP_001175.2:p.?	NC_000003.11:g.142281971G>A	(Likely) benign	1 lab	d0277d9e02
1:237791276 RYR2 C>T	1	237791276	237791276	C	T	RYR2	c.6336C>T	NM_001035.2	NP_001026.2:p.(Ser2112=)	NC_000001.10:g.237791276C>T	(Likely) benign	1 lab	d027baa03c
11:76831954 CAPN5 C>T	11	76831954	76831954	C	T	CAPN5	c.1486C>T	NM_004055.4	NP_004046.2:p.(Arg496Trp)	NC_000011.9:g.76831954C>T	VUS	1 lab	d02995dad7
6:38939444 DNAH8 A>T	6	38939444	38939444	A	T	DNAH8	c.12525+3A>T	NM_001206927.1	NP_001193856.1:p.?	NC_000006.11:g.38939444A>T	(Likely) benign	1 lab	d02ad1c1f3
8:145741363 RECQL4 C>T	8	145741363	145741363	C	T	RECQL4	c.1131+9G>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145741363C>T	(Likely) benign	1 lab	d02c962d79
12:121437114 HNF1A G>T	12	121437114	121437114	G	T	HNF1A	c.1545G>T	NM_001306179.1	NP_001293108.1:p.(Thr515=)	NC_000012.11:g.121437114G>T	(Likely) benign	1 lab	d02f077bcd
14:100375707 EML1 C>T	14	100375707	100375707	C	T	EML1	c.1187C>T	NM_001008707.1	NP_001008707.1:p.(Ala396Val)	NC_000014.8:g.100375707C>T	(Likely) benign	1 lab	d02f37e61b
8:94777688 TMEM67 A>G	8	94777688	94777688	A	G	TMEM67	c.561A>G	NM_153704.5	NP_714915.3:p.(Ser187=)	NC_000008.10:g.94777688A>G	(Likely) benign	1 lab	d02fbb53c5
2:21242678 APOB GC>G	2	21242678	21242680	GC	G	APOB	c.2915del	NM_000384.3	NP_000375.3:p.(Gly972AlafsTer2)	NC_000002.11:g.21242680del	(Likely) pathogenic	1 lab	d03161f668
8:97157499 GDF6 G>T	8	97157499	97157499	G	T	GDF6	c.660C>A	NM_001001557.3	NP_001001557.1:p.(Gly220=)	NC_000008.10:g.97157499G>T	(Likely) benign	1 lab	d03476f043
19:1221993 STK11 TC>T	19	1221993	1221995	TC	T	STK11	c.910del	NM_000455.5	NP_000446.1:p.(Arg304GlyfsTer32)	NC_000019.9:g.1221995del	(Likely) pathogenic	1 lab	d0351b84e4
11:66475595 SPTBN2 G>A	11	66475595	66475595	G	A	SPTBN2	c.1350+17C>T	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66475595G>A	(Likely) benign	1 lab	d03883e8d8
5:38481952 LIFR C>G	5	38481952	38481952	C	G	LIFR	c.3039G>C	NM_001127671.2	NP_001121143.1:p.(Val1013=)	NC_000005.9:g.38481952C>G	(Likely) benign	1 lab	d03ca11059
22:30057218 NF2 C>CT	22	30057218	30057220	C	CT	NF2	c.702dup	NM_000268.3	NP_000259.1:p.(Gly235TrpfsTer11)	NC_000022.10:g.30057220dup	(Likely) pathogenic	1 lab	d03ccec9e9
8:10470834 RP1L1 C>T	8	10470834	10470834	C	T	RP1L1	c.774G>A	NM_178857.5	NP_849188.4:p.(Lys258=)	NC_000008.10:g.10470834C>T	(Likely) benign	1 lab	d03f255b57
8:10470311 RP1L1 G>A	8	10470311	10470311	G	A	RP1L1	c.1297C>T	NM_178857.5	NP_849188.4:p.(Arg433Cys)	NC_000008.10:g.10470311G>A	(Likely) benign	1 lab	d04102d0f9
20:57415800 GNAS G>A	20	57415800	57415800	G	A	GNAS	c.639G>A	NM_016592.3	NP_057676.1:p.(Glu213=)	NC_000020.10:g.57415800G>A	(Likely) benign	1 lab	d042548cf0
16:426549 PGAP6 A>G	16	426549	426549	A	G	PGAP6	c.899T>C	NM_021259.3	NP_067082.2:p.(Leu300Pro)	NC_000016.9:g.426549A>G	VUS	1 lab	d043d24c18
9:35717211 TLN1 C>T	9	35717211	35717211	C	T	TLN1	c.2390G>A	NM_006289.4	NP_006280.3:p.(Arg797His)	NC_000009.11:g.35717211C>T	VUS	1 lab	d0456c4b75
17:29483144 NF1 GGTGA>G	17	29483144	29483150	GGTGA	G	NF1	c.204+3_204+6del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29483147_29483150del	VUS	1 lab	d045eeafb9
15:31362369 TRPM1 G>T	15	31362369	31362369	G	T	TRPM1	c.195C>A	NM_001252020.1	NP_001238949.1:p.(Ser65Arg)	NC_000015.9:g.31362369G>T	(Likely) benign	1 lab	d045ef2e48
16:1248772 CACNA1H C>T	16	1248772	1248772	C	T	CACNA1H	c.801C>T	NM_021098.2	NP_066921.2:p.(Val267=)	NC_000016.9:g.1248772C>T	(Likely) benign	1 lab	d04625d85a
11:76918339 MYO7A C>T	11	76918339	76918339	C	T	MYO7A	c.5748C>T	NM_000260.3	NP_000251.3:p.(Phe1916=)	NC_000011.9:g.76918339C>T	(Likely) benign	1 lab	d047abb1db
X:106108802 TBC1D8B C>A	X	106108802	106108802	C	A	TBC1D8B	c.2366C>A	NM_017752.2	NP_060222.2:p.(Ser789Ter)	NC_000023.10:g.106108802C>A	VUS	1 lab	d047c51fe6
4:122590824 ANXA5 A>G	4	122590824	122590824	A	G	ANXA5	c.836T>C	NM_001154.3	NP_001145.1:p.(Ile279Thr)	NC_000004.11:g.122590824A>G	VUS	1 lab	d047d20226
2:179620974 TTN CGTT>C	2	179620974	179620979	CGTT	C	TTN	c.11226_11228del	NM_001267550.2	NP_001254479.2:p.(Thr3743del)	NC_000002.11:g.179620977_179620979del	VUS	1 lab	d0491fbf4a
3:38645581 SCN5A G>C	3	38645581	38645581	G	C	SCN5A	c.1519-7C>G	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38645581G>C	VUS	1 lab	d049749617
1:22446768 WNT4 G>A	1	22446768	22446768	G	A	WNT4	c.831C>T	NM_030761.4	NP_110388.2:p.(Pro277=)	NC_000001.10:g.22446768G>A	(Likely) benign	1 lab	d04bf74f05
5:11023077 CTNND2 G>T	5	11023077	11023077	G	T	CTNND2	c.2803C>A	NM_001332.3	NP_001323.1:p.(Arg935=)	NC_000005.9:g.11023077G>T	(Likely) benign	1 lab	d04dcd4df1
7:99315248 CYP3A7 C>G	7	99315248	99315248	C	G	CYP3A7	c.333G>C	NM_000765.4	NP_000756.3:p.(Val111=)	NC_000007.13:g.99315248C>G	(Likely) benign	1 lab	d04dd9a915
12:31244703 DDX11 C>T	12	31244703	31244703	C	T	DDX11	c.1140C>T	NM_030653.3	NP_085911.2:p.(Ala380=)	NC_000012.11:g.31244703C>T	(Likely) benign	1 lab	d050cabf3b
1:155039270 EFNA4 C>T	1	155039270	155039270	C	T	EFNA4	c.178C>T	NM_005227.2	NP_005218.1:p.(His60Tyr)	NC_000001.10:g.155039270C>T	(Likely) benign	1 lab	d05150e2a3
19:12760739 MAN2B1 A>G	19	12760739	12760739	A	G	MAN2B1	c.2255T>C	NM_000528.3	NP_000519.2:p.(Ile752Thr)	NC_000019.9:g.12760739A>G	VUS	1 lab	d051af2256
9:135780951 TSC1 G>C	9	135780951	135780951	G	C	TSC1	c.1997+17C>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135780951G>C	(Likely) benign	1 lab	d05329ee15
21:47818157 PCNT G>A	21	47818157	47818157	G	A	PCNT	c.4572G>A	NM_006031.5	NP_006022.3:p.(Pro1524=)	NC_000021.8:g.47818157G>A	(Likely) benign	1 lab	d05492ba2f
17:29497013 NF1 A>G	17	29497013	29497013	A	G	NF1	c.584A>G	NM_000267.3	NP_000258.1:p.(Lys195Arg)	NC_000017.10:g.29497013A>G	(Likely) benign	1 lab	d058534e38
3:14174450 TMEM43 C>T	3	14174450	14174450	C	T	TMEM43	c.512+15C>T	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14174450C>T	(Likely) benign	1 lab	d059d0bf20
13:32914060 BRCA2 TGAAAC>T	13	32914060	32914065	TGAAAC	T	BRCA2	c.5569_5573del	NM_000059.4	NP_000050.3:p.(Glu1857AsnfsTer2)	NC_000013.10:g.32914061_32914065del	(Likely) pathogenic	1 lab	d05a76381a
10:293404 ZMYND11 GAAGT>G	10	293404	293412	GAAGT	G	ZMYND11	c.1227+3_1227+6del	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.293409_293412del	(Likely) pathogenic	1 lab	d05b157533
9:20862589 FOCAD C>T	9	20862589	20862589	C	T	FOCAD	c.1933C>T	NM_017794.4	NP_060264.4:p.(Arg645Cys)	NC_000009.11:g.20862589C>T	(Likely) benign	1 lab	d05b298ff3
5:171765987 SH3PXD2B G>A	5	171765987	171765987	G	A	SH3PXD2B	c.2122C>T	NM_001017995.2	NP_001017995.1:p.(Arg708Cys)	NC_000005.9:g.171765987G>A	VUS	1 lab	d05b5d33ed
17:29324320 RNF135 C>T	17	29324320	29324320	C	T	RNF135	c.805C>T	NM_001184992.1	NP_001171921.1:p.(His269Tyr)	NC_000017.10:g.29324320C>T	(Likely) benign	1 lab	d05c0bc27c
15:23891273 MAGEL2 C>T	15	23891273	23891273	C	T	MAGEL2	c.1617G>A	NM_019066.4	NP_061939.3:p.(Ala539=)	NC_000015.9:g.23891273C>T	(Likely) benign	1 lab	d05ccecb07
20:33573901 MYH7B A>T	20	33573901	33573901	A	T	MYH7B	c.932-2A>T	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33573901A>T	VUS	1 lab	d05d4ec813
8:145106274 OPLAH C>T	8	145106274	145106274	C	T	OPLAH	c.3820G>A	NM_017570.4	NP_060040.1:p.(Glu1274Lys)	NC_000008.10:g.145106274C>T	(Likely) benign	1 lab	d05dffa380
15:74494798 STRA6 C>T	15	74494798	74494798	C	T	STRA6	c.63G>A	NM_001199042.1	NP_001185971.1:p.(Gln21=)	NC_000015.9:g.74494798C>T	(Likely) benign	1 lab	d05f9a8455
20:33026280 ITCH G>A	20	33026280	33026280	G	A	ITCH	c.646G>A	NM_001324197.1	NP_001311126.1:p.(Val216Met)	NC_000020.10:g.33026280G>A	(Likely) benign	1 lab	d06253eeeb
10:122663559 WDR11 A>C	10	122663559	122663559	A	C	WDR11	c.2932A>C	NM_018117.11	NP_060587.8:p.(Lys978Gln)	NC_000010.10:g.122663559A>C	VUS	1 lab	d063c6aa61
4:88537054 DSPP T>C	4	88537054	88537054	T	C	DSPP	c.3240T>C	NM_014208.3	NP_055023.2:p.(Asp1080=)	NC_000004.11:g.88537054T>C	(Likely) benign	1 lab	d063cd1d69
2:202568891 ALS2 G>A	2	202568891	202568891	G	A	ALS2	c.4889C>T	NM_020919.3	NP_065970.2:p.(Pro1630Leu)	NC_000002.11:g.202568891G>A	VUS	1 lab	d063f0637f
20:390565 RBCK1 C>T	20	390565	390565	C	T	RBCK1	c.63C>T	NM_031229.2	NP_112506.2:p.(Gly21=)	NC_000020.10:g.390565C>T	VUS	1 lab	d06535002d
5:153381915 FAM114A2 TTCAGCCAGGCTCCGGA>T	5	153381915	153381932	TTCAGCCAGGCTCCGGA	T	FAM114A2	c.1136_1151del	NM_018691.4	NP_061161.2:p.(Ile379AsnfsTer2)	NC_000005.9:g.153381917_153381932del	VUS	1 lab	d065c6fb0f
10:127462897 MMP21 G>T	10	127462897	127462897	G	T	MMP21	c.200C>A	NM_147191.1	NP_671724.1:p.(Ala67Glu)	NC_000010.10:g.127462897G>T	(Likely) benign	1 lab	d065fd41e3
14:102473346 DYNC1H1 A>C	14	102473346	102473346	A	C	DYNC1H1	c.5718A>C	NM_001376.4	NP_001367.2:p.(Gly1906=)	NC_000014.8:g.102473346A>C	(Likely) benign	1 lab	d066b1a289
13:37446978 SMAD9 C>T	13	37446978	37446978	C	T	SMAD9	c.487G>A	NM_001127217.2	NP_001120689.1:p.(Ala163Thr)	NC_000013.10:g.37446978C>T	(Likely) benign	1 lab	d06871f62c
13:103504513 ERCC5 G>A	13	103504513	103504513	G	A	ERCC5	c.134G>A	NM_000123.3	NP_000114.2:p.(Arg45His)	NC_000013.10:g.103504513G>A	(Likely) benign	1 lab	d069649462
12:2614020 CACNA1C G>T	12	2614020	2614020	G	T	CACNA1C	c.1126G>T	NM_199460.3	NP_955630.3:p.(Val376Leu)	NC_000012.11:g.2614020G>T	(Likely) benign	1 lab	d06c2db7cf
1:46082322 NASP G>A	1	46082322	46082322	G	A	NASP	c.2104G>A	NM_002482.3	NP_002473.2:p.(Gly702Ser)	NC_000001.10:g.46082322G>A	(Likely) benign	1 lab	d06c9415c1
3:98251288 GPR15 G>A	3	98251288	98251288	G	A	GPR15	c.411G>A	NM_005290.4	NP_005281.1:p.(Trp137Ter)	NC_000003.11:g.98251288G>A	VUS	1 lab	d06cfadc4d
19:2280903 PEAK3 G>A	19	2280903	2280903	G	A	PEAK3	c.28C>T	NM_198532.3	NP_940934.1:p.(Pro10Ser)	NC_000019.9:g.2280903G>A	(Likely) benign	1 lab	d06d127171
16:2121535 TSC2 C>T	16	2121535	2121535	C	T	TSC2	c.1864C>T	NM_000548.3	NP_000539.2:p.(Arg622Trp)	NC_000016.9:g.2121535C>T	(Likely) pathogenic	1 lab	d06dab2d9c
6:152819875 SYNE1 A>G	6	152819875	152819875	A	G	SYNE1	c.939+2T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152819875A>G	VUS	1 lab	d06e14d4b9
19:42873756 MEGF8 C>T	19	42873756	42873756	C	T	MEGF8	c.6715C>T	NM_001271938.2	NP_001258867.1:p.(Arg2239Cys)	NC_000019.9:g.42873756C>T	VUS	1 lab	d06fcf2a18
4:187539636 FAT1 T>C	4	187539636	187539636	T	C	FAT1	c.8104A>G	NM_005245.3	NP_005236.2:p.(Lys2702Glu)	NC_000004.11:g.187539636T>C	VUS	1 lab	d06fd33dc8
18:44543285 ELOA3DP G>C	18	44543285	44543285	G	C	ELOA3DP	c.1087C>G	NM_001242907.1	NP_001229836.1:p.(Leu363Val)	NC_000018.9:g.44543285G>C	(Likely) benign	1 lab	d06ffa1df0
3:49136356 QARS1 C>T	3	49136356	49136356	C	T	QARS1	c.1825G>A	NM_005051.2	NP_005042.1:p.(Ala609Thr)	NC_000003.11:g.49136356C>T	(Likely) benign	1 lab	d0702c054b
1:12939851 PRAMEF4 G>A	1	12939851	12939851	G	A	PRAMEF4	c.951C>T	NM_001009611.4	NP_001009611.2:p.(Ser317=)	NC_000001.10:g.12939851G>A	(Likely) benign	1 lab	d073927df7
4:106395204 PPA2 T>A	4	106395204	106395204	T	A	PPA2	c.4A>T	NM_176869.2	NP_789845.1:p.(Ser2Cys)	NC_000004.11:g.106395204T>A	(Likely) pathogenic	1 lab	d0739ee825
2:72360395 CYP26B1 C>T	2	72360395	72360395	C	T	CYP26B1	c.903G>A	NM_019885.3	NP_063938.1:p.(Thr301=)	NC_000002.11:g.72360395C>T	(Likely) benign	1 lab	d074489aac
10:104378750 SUFU G>A	10	104378750	104378750	G	A	SUFU	c.1296+1565G>A	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104378750G>A	(Likely) benign	1 lab	d074b80e2f
1:6046228 NPHP4 G>A	1	6046228	6046228	G	A	NPHP4	c.122C>T	NM_015102.4	NP_055917.1:p.(Pro41Leu)	NC_000001.10:g.6046228G>A	VUS	1 lab	d074bd7ece
8:72959394 TRPA1 G>A	8	72959394	72959394	G	A	TRPA1	c.1954C>T	NM_007332.2	NP_015628.2:p.(Arg652Ter)	NC_000008.10:g.72959394G>A	(Likely) pathogenic	1 lab	d076a43286
7:107600954 LAMB1 C>T	7	107600954	107600954	C	T	LAMB1	c.2250G>A	NM_002291.2	NP_002282.2:p.(Pro750=)	NC_000007.13:g.107600954C>T	(Likely) benign	1 lab	d078e7b906
9:139259669 CARD9 C>T	9	139259669	139259669	C	T	CARD9	c.1358G>A	NM_052813.4	NP_434700.2:p.(Gly453Asp)	NC_000009.11:g.139259669C>T	VUS	1 lab	d079d8c021
11:1272788 MUC5B C>G	11	1272788	1272788	C	G	MUC5B	c.14678C>G	NM_002458.2	NP_002449.2:p.(Thr4893Arg)	NC_000011.9:g.1272788C>G	VUS	1 lab	d07da58076
1:237711775 RYR2 G>C	1	237711775	237711775	G	C	RYR2	c.2951G>C	NM_001035.2	NP_001026.2:p.(Ser984Thr)	NC_000001.10:g.237711775G>C	(Likely) benign	1 lab	d080bc1eb1
8:144943147 EPPK1 G>A	8	144943147	144943147	G	A	EPPK1				NC_000008.10:g.144943147G>A	(Likely) benign	1 lab	d0820ab3a7
5:76707503 PDE8B C>T	5	76707503	76707503	C	T	PDE8B	c.1533C>T	NM_003719.3	NP_003710.1:p.(Asp511=)	NC_000005.9:g.76707503C>T	(Likely) benign	1 lab	d082f0404b
1:12337901 VPS13D G>T	1	12337901	12337901	G	T	VPS13D	c.4256G>T	NM_015378.4	NP_056193.2:p.(Ser1419Ile)	NC_000001.10:g.12337901G>T	VUS	1 lab	d083477422
17:29585395 NF1 G>A	17	29585395	29585395	G	A	NF1	c.4144G>A	NM_000267.3	NP_000258.1:p.(Gly1382Ser)	NC_000017.10:g.29585395G>A	VUS	1 lab	d0859a02dd
1:22170770 HSPG2 G>C	1	22170770	22170770	G	C	HSPG2	c.8490C>G	NM_001291860.1	NP_001278789.1:p.(Ile2830Met)	NC_000001.10:g.22170770G>C	VUS	1 lab	d087668a33
X:73641675 SLC16A2 A>G	X	73641675	73641675	A	G	SLC16A2	c.203A>G	NM_006517.4	NP_006508.2:p.(Glu68Gly)	NC_000023.10:g.73641675A>G	(Likely) benign	1 lab	d089effc7b
13:32914938 BRCA2 T>TTA	13	32914938	32914940	T	TTA	BRCA2	c.6447_6448dup	NM_000059.3	NP_000050.2:p.(Lys2150IlefsTer19)	NC_000013.10:g.32914939_32914940dup	(Likely) pathogenic	1 lab	d08a9c9866
1:228345606 GJC2 C>T	1	228345606	228345606	C	T	GJC2	c.147C>T	NM_020435.3	NP_065168.2:p.(Asp49=)	NC_000001.10:g.228345606C>T	(Likely) benign	1 lab	d08ae1cd16
4:77095338 SCARB2 C>A	4	77095338	77095338	C	A	SCARB2	c.953G>T	NM_005506.3	NP_005497.1:p.(Cys318Phe)	NC_000004.11:g.77095338C>A	VUS	1 lab	d08b50dd1f
1:22205107 HSPG2 C>A	1	22205107	22205107	C	A	HSPG2	c.2524G>T	NM_001291860.1	NP_001278789.1:p.(Ala842Ser)	NC_000001.10:g.22205107C>A	VUS	1 lab	d08e49c4c5
14:105354102 CEP170B C>T	14	105354102	105354102	C	T	CEP170B	c.3526C>T	NM_001112726.3	NP_001106197.1:p.(Arg1176Trp)	NC_000014.8:g.105354102C>T	VUS	1 lab	d08e55ea51
17:29550444 NF1 AACTTTATGTTACTGCAGCTCAC>A	17	29550444	29550467	AACTTTATGTTACTGCAGCTCAC	A	NF1	c.1722-16_1727del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29550446_29550467del	(Likely) pathogenic	1 lab	d08edec823
19:3885801 ATCAY C>T	19	3885801	3885801	C	T	ATCAY	c.36C>T	NM_033064.4	NP_149053.1:p.(Asn12=)	NC_000019.9:g.3885801C>T	(Likely) benign	1 lab	d08ef8b254
11:65639812 EFEMP2 G>T	11	65639812	65639812	G	T	EFEMP2	c.14C>A	NM_016938.4	NP_058634.4:p.(Ala5Asp)	NC_000011.9:g.65639812G>T	VUS	1 lab	d08f7f08b8
12:83081393 TMTC2 C>T	12	83081393	83081393	C	T	TMTC2	c.28C>T	NM_152588.3	NP_689801.1:p.(Leu10=)	NC_000012.11:g.83081393C>T	(Likely) benign	1 lab	d08fb8cfda
9:140444627 PNPLA7 C>CT	9	140444627	140444628	C	CT	PNPLA7	c.22dup	NM_001098537.3	NP_001092007.2:p.(Ser8LysfsTer5)	NC_000009.11:g.140444628dup	(Likely) benign	1 lab	d09114d2dd
5:167945076 RARS1 CTT>C	5	167945076	167945100	CTT	C	RARS1	c.1873+32_1873+33del	NM_002887.4	NP_002878.2:p.?	NC_000005.9:g.167945099_167945100del	(Likely) benign	1 lab	d09749e2c4
5:77334863 AP3B1 T>C	5	77334863	77334863	T	C	AP3B1	c.2662+4A>G	NM_001271769.1	NP_001258698.1:p.?	NC_000005.9:g.77334863T>C	VUS	1 lab	d0989cee10
8:145140645 GPAA1 C>T	8	145140645	145140645	C	T	GPAA1	c.1621C>T	NM_003801.4	NP_003792.1:p.(Arg541Trp)	NC_000008.10:g.145140645C>T	VUS	1 lab	d09c0827a0
8:145741780 RECQL4 G>C	8	145741780	145741780	G	C	RECQL4	c.723C>G	NM_004260.3	NP_004251.3:p.(Ala241=)	NC_000008.10:g.145741780G>C	(Likely) benign	1 lab	d09c79fd97
3:52172222 POC1A A>G	3	52172222	52172222	A	G	POC1A	c.662T>C	NM_001161581.1	NP_001155053.1:p.(Met221Thr)	NC_000003.11:g.52172222A>G	VUS	1 lab	d09d8be3ff
13:39263061 FREM2 C>T	13	39263061	39263061	C	T	FREM2	c.1580C>T	NM_207361.5	NP_997244.4:p.(Ser527Leu)	NC_000013.10:g.39263061C>T	VUS	1 lab	d09e7b50e6
5:70805723 BDP1 G>T	5	70805723	70805723	G	T	BDP1	c.2804G>T	NM_018429.2	NP_060899.2:p.(Arg935Ile)	NC_000005.9:g.70805723G>T	VUS	1 lab	d09f2c09dd
11:65321659 LTBP3 T>A	11	65321659	65321659	T	A	LTBP3	c.524A>T	NM_001130144.2	NP_001123616.1:p.(Glu175Val)	NC_000011.9:g.65321659T>A	VUS	1 lab	d0a012315b
19:9007514 MUC16 T>A	19	9007514	9007514	T	A	MUC16	c.39454A>T	NM_024690.2	NP_078966.2:p.(Thr13152Ser)	NC_000019.9:g.9007514T>A	(Likely) benign	1 lab	d0a0bb0b24
10:115374648 NRAP C>T	10	115374648	115374648	C	T	NRAP	c.3136G>A	NM_001261463.1	NP_001248392.1:p.(Asp1046Asn)	NC_000010.10:g.115374648C>T	VUS	1 lab	d0a646036b
17:18024794 MYO15A C>T	17	18024794	18024794	C	T	MYO15A	c.2680C>T	NM_016239.3	NP_057323.3:p.(Pro894Ser)	NC_000017.10:g.18024794C>T	(Likely) benign	1 lab	d0a6df5449
8:61769376 CHD7 C>T	8	61769376	61769376	C	T	CHD7				NC_000008.10:g.61769376C>T	VUS	1 lab	d0a7ff5f13
5:90144622 ADGRV1 G>A	5	90144622	90144622	G	A	ADGRV1	c.17188G>A	NM_032119.4	NP_115495.3:p.(Gly5730Ser)	NC_000005.9:g.90144622G>A	VUS	1 lab	d0a8dbddc3
11:89819320 UBTFL1 G>C	11	89819320	89819320	G	C	UBTFL1	c.203G>C	NM_001143975.1	NP_001137447.1:p.(Arg68Thr)	NC_000011.9:g.89819320G>C	VUS	1 lab	d0a91f9d2f
8:30924558 WRN A>C	8	30924558	30924558	A	C	WRN	c.514A>C	NM_000553.4	NP_000544.2:p.(Thr172Pro)	NC_000008.10:g.30924558A>C	(Likely) benign	1 lab	d0a9ec83d7
12:40637470 LRRK2 T>C	12	40637470	40637470	T	C	LRRK2	c.825T>C	NM_198578.3	NP_940980.3:p.(His275=)	NC_000012.11:g.40637470T>C	(Likely) benign	1 lab	d0aa1095b5
9:14808081 FREM1 G>A	9	14808081	14808081	G	A	FREM1	c.2945C>T	NM_144966.5	NP_659403.4:p.(Ser982Leu)	NC_000009.11:g.14808081G>A	VUS	1 lab	d0abb50a81
15:65369307 KBTBD13 G>A	15	65369307	65369307	G	A	KBTBD13	c.154G>A	NM_001101362.2	NP_001094832.1:p.(Val52Ile)	NC_000015.9:g.65369307G>A	(Likely) benign	1 lab	d0abb680ad
5:178410177 GRM6 C>T	5	178410177	178410177	C	T	GRM6	c.2170G>A	NM_000843.4	NP_000834.2:p.(Val724Met)	NC_000005.9:g.178410177C>T	(Likely) benign	1 lab	d0ad36cb00
5:6632837 NSUN2 C>T	5	6632837	6632837	C	T	NSUN2	c.129G>A	NM_017755.5	NP_060225.4:p.(Lys43=)	NC_000005.9:g.6632837C>T	(Likely) benign	1 lab	d0ad92daa9
7:149153070 ZNF777 G>A	7	149153070	149153070	G	A	ZNF777	c.44C>T	NM_015694.3	NP_056509.2:p.(Pro15Leu)	NC_000007.13:g.149153070G>A	(Likely) benign	1 lab	d0ae36d7d5
8:94777713 TMEM67 A>T	8	94777713	94777713	A	T	TMEM67	c.576+10A>T	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94777713A>T	(Likely) benign	1 lab	d0ae50bf38
15:89402437 ACAN G>A	15	89402437	89402437	G	A	ACAN	c.6621G>A	NM_013227.3	NP_037359.3:p.(Ser2207=)	NC_000015.9:g.89402437G>A	(Likely) benign	1 lab	d0aec5ff31
2:179458411 TTN C>A	2	179458411	179458411	C	A	TTN	c.58616G>T	NM_001267550.1	NP_001254479.1:p.(Cys19539Phe)	NC_000002.11:g.179458411C>A	(Likely) benign	1 lab	d0af308e3b
3:52380608 DNAH1 A>G	3	52380608	52380608	A	G	DNAH1	c.1777A>G	NM_015512.4	NP_056327.4:p.(Met593Val)	NC_000003.11:g.52380608A>G	VUS	1 lab	d0af5f5571
2:133427640 LYPD1 T>G	2	133427640	133427640	T	G	LYPD1	c.41A>C	NM_001321234.1	NP_001308163.1:p.(Tyr14Ser)	NC_000002.11:g.133427640T>G	(Likely) benign	1 lab	d0b1051f1e
22:25010754 GGT1 G>A	22	25010754	25010754	G	A	GGT1	c.176G>A	NM_001288833.2	NP_001275762.1:p.(Arg59Gln)	NC_000022.10:g.25010754G>A	(Likely) benign	1 lab	d0b141a7c4
10:97599449 ENTPD1 A>G	10	97599449	97599449	A	G	ENTPD1	c.146A>G	NM_001164179.1	NP_001157651.1:p.(Tyr49Cys)	NC_000010.10:g.97599449A>G	VUS	1 lab	d0b16bb0ae
3:38912959 SCN11A C>T	3	38912959	38912959	C	T	SCN11A	c.3736G>A	NM_014139.2	NP_054858.2:p.(Ala1246Thr)	NC_000003.11:g.38912959C>T	VUS	1 lab	d0b4f2b8f4
9:117849382 TNC C>T	9	117849382	117849382	C	T	TNC	c.628G>A	NM_002160.3	NP_002151.2:p.(Gly210Ser)	NC_000009.11:g.117849382C>T	(Likely) benign	1 lab	d0b5d03c8a
12:49435112 KMT2D C>T	12	49435112	49435112	C	T	KMT2D	c.6441G>A	NM_003482.3	NP_003473.3:p.(Ala2147=)	NC_000012.11:g.49435112C>T	(Likely) benign	1 lab	d0b61437a5
6:43581967 POLH C>T	6	43581967	43581967	C	T	POLH	c.1815C>T	NM_006502.2	NP_006493.1:p.(His605=)	NC_000006.11:g.43581967C>T	(Likely) benign	1 lab	d0b7572ea1
20:2377277 TGM6 A>G	20	2377277	2377277	A	G	TGM6	c.543+7A>G	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2377277A>G	(Likely) benign	1 lab	d0b90ccb00
X:50339825 SHROOM4 T>C	X	50339825	50339825	T	C	SHROOM4	c.4352A>G	NM_020717.3	NP_065768.2:p.(Tyr1451Cys)	NC_000023.10:g.50339825T>C	VUS	1 lab	d0b9c8f371
12:112037120 ATXN2 G>A	12	112037120	112037120	G	A	ATXN2	c.199C>T	NM_002973.3	NP_002964.3:p.(Gln67Ter)	NC_000012.11:g.112037120G>A	VUS	1 lab	d0b9e0d99b
11:107940892 MISSING A>G	11	107940892	107940892	A	G	MISSING				NC_000011.9:g.107940892A>G	VUS	1 lab	d0bb974e32
12:6952178 GNB3 G>A	12	6952178	6952178	G	A	GNB3	c.141G>A	NM_002075.3	NP_002066.1:p.(Thr47=)	NC_000012.11:g.6952178G>A	(Likely) benign	1 lab	d0bbbc0066
2:110926034 NPHP1 G>C	2	110926034	110926034	G	C	NPHP1	c.619C>G	NM_000272.3	NP_000263.2:p.(Leu207Val)	NC_000002.11:g.110926034G>C	VUS	1 lab	d0bbd2fa40
17:60758197 MRC2 A>G	17	60758197	60758197	A	G	MRC2	c.2510A>G	NM_006039.4	NP_006030.2:p.(Tyr837Cys)	NC_000017.10:g.60758197A>G	VUS	1 lab	d0bcebde02
16:28913358 ATP2A1 C>T	16	28913358	28913358	C	T	ATP2A1	c.2275C>T	NM_004320.4	NP_004311.1:p.(Gln759Ter)	NC_000016.9:g.28913358C>T	(Likely) pathogenic	1 lab	d0bd3edc84
X:139866080 CDR1 C>T	X	139866080	139866080	C	T	CDR1	c.452G>A	NM_004065.2	NP_004056.2:p.(Arg151His)	NC_000023.10:g.139866080C>T	(Likely) benign	1 lab	d0bdbb04cb
5:127597503 FBN2 G>A	5	127597503	127597503	G	A	FBN2	c.8289C>T	NM_001999.3	NP_001990.2:p.(Tyr2763=)	NC_000005.9:g.127597503G>A	(Likely) benign	1 lab	d0becf7606
17:29560214 NF1 GT>G	17	29560214	29560216	GT	G	NF1	c.3693del	NM_001042492.3	NP_001035957.1:p.(Pro1232LeufsTer8)	NC_000017.10:g.29560216del	(Likely) pathogenic	1 lab	d0c03d3267
10:69933937 MYPN C>T	10	69933937	69933937	C	T	MYPN	c.2088C>T	NM_032578.3	NP_115967.2:p.(Asn696=)	NC_000010.10:g.69933937C>T	(Likely) benign	1 lab	d0c2ebe9a0
2:228135578 COL4A3 G>A	2	228135578	228135578	G	A	COL4A3	c.1668G>A	NM_000091.4	NP_000082.2:p.(Pro556=)	NC_000002.11:g.228135578G>A	(Likely) benign	1 lab	d0c38eee87
19:37853169 ZNF875 C>A	19	37853169	37853169	C	A	ZNF875	c.400C>A	NM_001329765.1	NP_001316694.1:p.(Gln134Lys)	NC_000019.9:g.37853169C>A	VUS	1 lab	d0c7512d06
1:156105002 LMNA G>A	1	156105002	156105002	G	A	LMNA				NC_000001.10:g.156105002G>A	VUS	1 lab	d0c7f0ecca
4:17493884 QDPR C>G	4	17493884	17493884	C	G	QDPR	c.516G>C	NM_000320.2	NP_000311.2:p.(Pro172=)	NC_000004.11:g.17493884C>G	(Likely) benign	1 lab	d0c8e1e8a1
3:93754286 ARL13B G>GT	3	93754286	93754302	G	GT	ARL13B	c.486+22dup	NM_001174150.1	NP_001167621.1:p.?	NC_000003.11:g.93754302dup	(Likely) benign	1 lab	d0c957c984
7:70255543 AUTS2 G>A	7	70255543	70255543	G	A	AUTS2	c.3269G>A	NM_001127231.2	NP_001120703.1:p.(Arg1090His)	NC_000007.13:g.70255543G>A	VUS	1 lab	d0ca344f3e
10:73466695 CDH23 G>A	10	73466695	73466695	G	A	CDH23	c.2995G>A	NM_022124.5	NP_071407.4:p.(Val999Met)	NC_000010.10:g.73466695G>A	VUS	1 lab	d0ca5a11ac
16:2129192 TSC2 G>A	16	2129192	2129192	G	A	TSC2	c.3126G>A	NM_001114382.2	NP_001107854.1:p.(Pro1042=)	NC_000016.9:g.2129192G>A	(Likely) benign	1 lab	d0cb669139
8:11990736 USP17L7 C>T	8	11990736	11990736	C	T	USP17L7	c.783G>A	NM_001256869.1	NP_001243798.1:p.(Ala261=)	NC_000008.10:g.11990736C>T	(Likely) benign	1 lab	d0cbdb57c2
2:73799577 ALMS1 C>T	2	73799577	73799577	C	T	ALMS1	c.10576C>T	NM_015120.4	NP_055935.4:p.(His3526Tyr)	NC_000002.11:g.73799577C>T	(Likely) benign	1 lab	d0cbfea209
X:150817170 PASD1 C>T	X	150817170	150817170	C	T	PASD1	c.713C>T	NM_173493.2	NP_775764.2:p.(Ser238Leu)	NC_000023.10:g.150817170C>T	(Likely) benign	1 lab	d0d0dc3457
18:44157661 LOXHD1 C>T	18	44157661	44157661	C	T	LOXHD1	c.1970+9G>A	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44157661C>T	(Likely) benign	1 lab	d0d3a273fc
6:162683711 PRKN G>A	6	162683711	162683711	G	A	PRKN	c.258C>T	NM_004562.2	NP_004553.2:p.(Asp86=)	NC_000006.11:g.162683711G>A	(Likely) benign	1 lab	d0d411f05d
1:161479870 FCGR2A G>A	1	161479870	161479870	G	A	FCGR2A	c.619+6G>A	NM_001136219.1	NP_001129691.1:p.?	NC_000001.10:g.161479870G>A	(Likely) benign	1 lab	d0d46aa09b
2:172314493 DCAF17 G>A	2	172314493	172314493	G	A	DCAF17	c.640G>A	NM_025000.3	NP_079276.2:p.(Val214Ile)	NC_000002.11:g.172314493G>A	(Likely) benign	1 lab	d0d4a58db9
6:57061356 RAB23 A>T	6	57061356	57061356	A	T	RAB23	c.290T>A	NM_016277.4	NP_057361.3:p.(Phe97Tyr)	NC_000006.11:g.57061356A>T	VUS	1 lab	d0d599973b
9:100193238 TDRD7 C>T	9	100193238	100193238	C	T	TDRD7	c.231C>T	NM_014290.2	NP_055105.2:p.(Cys77=)	NC_000009.11:g.100193238C>T	(Likely) benign	1 lab	d0d5e0d9d7
15:44912609 SPG11 A>G	15	44912609	44912609	A	G	SPG11	c.2621-8T>C	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44912609A>G	(Likely) benign	1 lab	d0d9866d4b
11:94212019 MRE11 G>A	11	94212019	94212019	G	A	MRE11	c.426C>T	NM_001330347.1	NP_001317276.1:p.(Asp142=)	NC_000011.9:g.94212019G>A	(Likely) benign	1 lab	d0d9b496d1
2:179553786 TTN G>A	2	179553786	179553786	G	A	TTN	c.32089C>T	NM_001267550.1	NP_001254479.1:p.(Pro10697Ser)	NC_000002.11:g.179553786G>A	VUS	1 lab	d0da20ba7d
2:210737694 UNC80 C>T	2	210737694	210737694	C	T	UNC80	c.3846C>T	NM_032504.1	NP_115893.1:p.(Asp1282=)	NC_000002.11:g.210737694C>T	(Likely) benign	1 lab	d0da643072
13:32912734 BRCA2 G>T	13	32912734	32912734	G	T	BRCA2	c.4242G>T	NM_000059.3	NP_000050.2:p.(Thr1414=)	NC_000013.10:g.32912734G>T	(Likely) benign	1 lab	d0daa7fb07
X:153282028 IRAK1 G>A	X	153282028	153282028	G	A	IRAK1	c.1096C>T	NM_001569.3	NP_001560.2:p.(Arg366Cys)	NC_000023.10:g.153282028G>A	(Likely) benign	1 lab	d0dd3d1a03
17:29508489 NF1 TATAA>T	17	29508489	29508496	TATAA	T	NF1	c.640_643del	NM_001042492.3	NP_001035957.1:p.(Asn214AlafsTer10)	NC_000017.10:g.29508493_29508496del	(Likely) pathogenic	1 lab	d0dda00bad
11:66332107 CTSF C>T	11	66332107	66332107	C	T	CTSF	c.1243G>A	NM_003793.3	NP_003784.2:p.(Gly415Arg)	NC_000011.9:g.66332107C>T	(Likely) pathogenic	1 lab	d0def96376
X:47464725 SYN1 C>T	X	47464725	47464725	C	T	SYN1	c.581G>A	NM_006950.3	NP_008881.2:p.(Arg194His)	NC_000023.10:g.47464725C>T	VUS	1 lab	d0df33bd45
16:11000905 CIITA C>T	16	11000905	11000905	C	T	CIITA	c.1559C>T	NM_001286402.1	NP_001273331.1:p.(Pro520Leu)	NC_000016.9:g.11000905C>T	(Likely) benign	1 lab	d0e151502f
3:123021971 ADCY5 G>A	3	123021971	123021971	G	A	ADCY5	c.2655C>T	NM_183357.2	NP_899200.1:p.(Ala885=)	NC_000003.11:g.123021971G>A	(Likely) benign	1 lab	d0e3185aad
21:38139543 HLCS C>T	21	38139543	38139543	C	T	HLCS	c.1495G>A	NM_001242784.2	NP_001229713.1:p.(Ala499Thr)	NC_000021.8:g.38139543C>T	VUS	1 lab	d0e4218e00
16:4847835 ROGDI C>T	16	4847835	4847835	C	T	ROGDI	c.702G>A	NM_024589.2	NP_078865.1:p.(Trp234Ter)	NC_000016.9:g.4847835C>T	(Likely) pathogenic	1 lab	d0e51d4c67
17:40940172 WNK4 T>C	17	40940172	40940172	T	C	WNK4	c.1888T>C	NM_032387.4	NP_115763.2:p.(Ser630Pro)	NC_000017.10:g.40940172T>C	(Likely) benign	1 lab	d0e621ae8f
2:198273295 SF3B1 C>A	2	198273295	198273295	C	A	SF3B1	c.915G>T	NM_012433.3	NP_036565.2:p.(Gly305=)	NC_000002.11:g.198273295C>A	(Likely) benign	1 lab	d0e7be5eb3
17:62492991 POLG2 C>T	17	62492991	62492991	C	T	POLG2	c.96G>A	NM_007215.3	NP_009146.2:p.(Leu32=)	NC_000017.10:g.62492991C>T	(Likely) benign	1 lab	d0ea1c1083
5:180076513 FLT4 C>T	5	180076513	180076513	C	T	FLT4	c.33G>A	NM_182925.4	NP_891555.2:p.(Leu11=)	NC_000005.9:g.180076513C>T	(Likely) benign	1 lab	d0ebaf7219
1:27876742 AHDC1 C>T	1	27876742	27876742	C	T	AHDC1	c.1885G>A	NM_001029882.3	NP_001025053.1:p.(Ala629Thr)	NC_000001.10:g.27876742C>T	(Likely) benign	1 lab	d0ec2aeeeb
X:128691839 OCRL T>G	X	128691839	128691839	T	G	OCRL	c.354T>G	NM_001318784.1	NP_001305713.1:p.(Ala118=)	NC_000023.10:g.128691839T>G	VUS	1 lab	d0ec8d1d4b
19:49494552 GYS1 G>A	19	49494552	49494552	G	A	GYS1	c.300+7C>T	NM_002103.4	NP_002094.2:p.?	NC_000019.9:g.49494552G>A	(Likely) benign	1 lab	d0f05cac76
6:43555032 POLH T>C	6	43555032	43555032	T	C	POLH	c.296T>C	NM_006502.2	NP_006493.1:p.(Val99Ala)	NC_000006.11:g.43555032T>C	VUS	1 lab	d0f1dc4a36
17:29556143 NF1 G>A	17	29556143	29556143	G	A	NF1	c.2510G>A	NM_000267.3	NP_000258.1:p.(Trp837Ter)	NC_000017.10:g.29556143G>A	(Likely) pathogenic	1 lab	d0f2866bc8
3:4712613 ITPR1 G>A	3	4712613	4712613	G	A	ITPR1	c.2159+3G>A	NM_001168272.1	NP_001161744.1:p.?	NC_000003.11:g.4712613G>A	(Likely) benign	1 lab	d0f3833170
1:21903075 ALPL A>G	1	21903075	21903075	A	G	ALPL	c.1250A>G	NM_000478.5	NP_000469.3:p.(Asn417Ser)	NC_000001.10:g.21903075A>G	(Likely) pathogenic	1 lab	d0f3db4961
17:36493058 GPR179 C>T	17	36493058	36493058	C	T	GPR179	c.1030G>A	NM_001004334.3	NP_001004334.3:p.(Gly344Arg)	NC_000017.10:g.36493058C>T	VUS	1 lab	d0f6ae5e4a
1:160001524 PIGM G>A	1	160001524	160001524	G	A	PIGM	c.6C>T	NM_145167.2	NP_660150.1:p.(Gly2=)	NC_000001.10:g.160001524G>A	(Likely) benign	1 lab	d0fb7be6b3
10:73269949 CDH23 G>A	10	73269949	73269949	G	A	CDH23	c.256G>A	NM_022124.5	NP_071407.4:p.(Val86Met)	NC_000010.10:g.73269949G>A	VUS	1 lab	d0fc5a0bed
9:32543709 TOPORS T>C	9	32543709	32543709	T	C	TOPORS	c.814A>G	NM_005802.4	NP_005793.2:p.(Ile272Val)	NC_000009.11:g.32543709T>C	(Likely) benign	1 lab	d0fc88d76e
1:17281850 CROCC G>A	1	17281850	17281850	G	A	CROCC	c.3509G>A	NM_014675.5	NP_055490.4:p.(Arg1170His)	NC_000001.10:g.17281850G>A	VUS	1 lab	d0fd525ccb
3:48630986 COL7A1 C>T	3	48630986	48630986	C	T	COL7A1	c.410G>A	NM_000094.3	NP_000085.1:p.(Arg137Gln)	NC_000003.11:g.48630986C>T	VUS	1 lab	d0fdbcf454
17:29483112 NF1 C>CTCACTA	17	29483112	29483118	C	CTCACTA	NF1	c.173_178dup	NM_000267.3	NP_000258.1:p.(Thr59_Thr60insIleThr)	NC_000017.10:g.29483113_29483118dup	(Likely) pathogenic	1 lab	d0ff7ac63e
2:152410537 NEB G>T	2	152410537	152410537	G	T	NEB	c.19431C>A	NM_001271208.1	NP_001258137.1:p.(Arg6477=)	NC_000002.11:g.152410537G>T	(Likely) benign	1 lab	d1050c4a48
19:10334838 S1PR2 G>T	19	10334838	10334838	G	T	S1PR2	c.744C>A	NM_004230.4	NP_004221.3:p.(Pro248=)	NC_000019.9:g.10334838G>T	(Likely) benign	1 lab	d106b8d488
1:178427239 RASAL2 A>G	1	178427239	178427239	A	G	RASAL2	c.2812A>G	NM_170692.2	NP_733793.2:p.(Lys938Glu)	NC_000001.10:g.178427239A>G	VUS	1 lab	d107b8c2b7
20:60838714 OSBPL2 C>T	20	60838714	60838714	C	T	OSBPL2	c.225C>T	NM_144498.2	NP_653081.1:p.(Ser75=)	NC_000020.10:g.60838714C>T	(Likely) benign	1 lab	d109985205
2:179395554 TTN GC>AA	2	179395554	179395555	GC	AA	TTN	c.105787_105788delinsTT	NM_001267550.1	NP_001254479.1:p.(Ala35263Phe)	NC_000002.11:g.179395554_179395555delinsAA	(Likely) benign	1 lab	d0fb4d6363
9:139981484 MAN1B1 T>C	9	139981484	139981484	T	C	MAN1B1	c.33T>C	NM_016219.4	NP_057303.2:p.(Ala11=)	NC_000009.11:g.139981484T>C	(Likely) benign	1 lab	d10f50cb19
17:78188843 SGSH C>A	17	78188843	78188843	C	A	SGSH	c.344G>T	NM_000199.4	NP_000190.1:p.(Gly115Val)	NC_000017.10:g.78188843C>A	VUS	1 lab	d1132b6b03
X:118109305 LONRF3 G>T	X	118109305	118109305	G	T	LONRF3	c.562G>T	NM_001031855.2	NP_001027026.1:p.(Ala188Ser)	NC_000023.10:g.118109305G>T	VUS	1 lab	d114a06bf1
19:42777507 CIC C>T	19	42777507	42777507	C	T	CIC	c.1572C>T	NM_001304815.1	NP_001291744.1:p.(His524=)	NC_000019.9:g.42777507C>T	(Likely) benign	1 lab	d115abd09e
3:126194703 ZXDC G>A	3	126194703	126194703	G	A	ZXDC	c.6C>T	NM_001040653.3	NP_001035743.1:p.(Asp2=)	NC_000003.11:g.126194703G>A	(Likely) benign	1 lab	d115bc6ccb
21:41725499 DSCAM G>A	21	41725499	41725499	G	A	DSCAM	c.827C>T	NM_001389.5	NP_001380.2:p.(Thr276Met)	NC_000021.8:g.41725499G>A	VUS	1 lab	d115e2dfac
X:118985476 UPF3B C>T	X	118985476	118985476	C	T	UPF3B	c.352G>A	NM_080632.2	NP_542199.1:p.(Val118Ile)	NC_000023.10:g.118985476C>T	(Likely) benign	1 lab	d1175737e7
9:117166204 WHRN T>C	9	117166204	117166204	T	C	WHRN	c.2390A>G	NM_015404.3	NP_056219.3:p.(Glu797Gly)	NC_000009.11:g.117166204T>C	VUS	1 lab	d1197f7f4c
19:1207108 STK11 G>GT	19	1207108	1207109	G	GT	STK11	c.197dup	NM_000455.4	NP_000446.1:p.(Leu67AlafsTer96)	NC_000019.9:g.1207109dup	(Likely) pathogenic	1 lab	d11b243991
X:85950140 DACH2 C>A	X	85950140	85950140	C	A	DACH2	c.850C>A	NM_001139514.1	NP_001132986.1:p.(Pro284Thr)	NC_000023.10:g.85950140C>A	(Likely) benign	1 lab	d12a16e701
11:2187260 TH G>A	11	2187260	2187260	G	A	TH	c.1169C>T	NM_199292.2	NP_954986.2:p.(Ser390Leu)	NC_000011.9:g.2187260G>A	VUS	1 lab	d11db3e113
2:152521352 NEB T>G	2	152521352	152521352	T	G	NEB	c.5264A>C	NM_001271208.1	NP_001258137.1:p.(Lys1755Thr)	NC_000002.11:g.152521352T>G	VUS	1 lab	d11e9a5f1b
X:24007003 KLHL15 C>T	X	24007003	24007003	C	T	KLHL15	c.850G>A	NM_030624.2	NP_085127.2:p.(Val284Ile)	NC_000023.10:g.24007003C>T	VUS	1 lab	d1217e316a
12:54676347 HNRNPA1 A>G	12	54676347	54676347	A	G	HNRNPA1	c.584-10A>G	NM_031157.3	NP_112420.1:p.?	NC_000012.11:g.54676347A>G	(Likely) benign	1 lab	d121bee3af
1:155449492 ASH1L T>G	1	155449492	155449492	T	G	ASH1L	c.3169A>C	NM_018489.3	NP_060959.2:p.(Thr1057Pro)	NC_000001.10:g.155449492T>G	(Likely) benign	1 lab	d1220ebd10
5:176831231 F12 C>G	5	176831231	176831231	C	G	F12	c.984G>C	NM_000505.3	NP_000496.2:p.(Thr328=)	NC_000005.9:g.176831231C>G	(Likely) benign	1 lab	d1257215d1
5:150947039 FAT2 C>T	5	150947039	150947039	C	T	FAT2	c.1454G>A	NM_001447.2	NP_001438.1:p.(Arg485Gln)	NC_000005.9:g.150947039C>T	VUS	1 lab	d125de180c
15:89755020 RLBP1 G>C	15	89755020	89755020	G	C	RLBP1	c.638C>G	NM_000326.4	NP_000317.1:p.(Ala213Gly)	NC_000015.9:g.89755020G>C	VUS	1 lab	d126ab39b4
4:122831397 TRPC3 C>T	4	122831397	122831397	C	T	TRPC3	c.1704G>A	NM_001130698.1	NP_001124170.1:p.(Thr568=)	NC_000004.11:g.122831397C>T	(Likely) benign	1 lab	d1276c420f
X:21550179 CNKSR2 A>G	X	21550179	21550179	A	G	CNKSR2	c.1297A>G	NM_014927.4	NP_055742.2:p.(Thr433Ala)	NC_000023.10:g.21550179A>G	(Likely) benign	1 lab	d1284b7263
20:10639371 JAG1 C>G	20	10639371	10639371	C	G	JAG1	c.440-1G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639371C>G	(Likely) pathogenic	1 lab	d128a74fb9
3:10183869 VHL G>T	3	10183869	10183869	G	T	VHL	c.338G>T	NM_001354723.1	NP_001341652.1:p.(Arg113Leu)	NC_000003.11:g.10183869G>T	(Likely) benign	1 lab	d128b081c9
8:116631392 TRPS1 C>T	8	116631392	116631392	C	T	TRPS1	c.933G>A	NM_014112.4	NP_054831.2:p.(Arg311=)	NC_000008.10:g.116631392C>T	(Likely) benign	1 lab	d12b45d9fa
5:149771648 TCOF1 C>T	5	149771648	149771648	C	T	TCOF1	c.3426C>T	NM_001135243.1	NP_001128715.1:p.(Ser1142=)	NC_000005.9:g.149771648C>T	(Likely) benign	1 lab	d12bd8972b
6:24843302 RIPOR2 TCTTGACCAGCTG>T	6	24843302	24843317	TCTTGACCAGCTG	T	RIPOR2	c.1633_1644del	NM_001286445.3	NP_001273374.1:p.(Gln545_Lys548del)	NC_000006.11:g.24843306_24843317del	VUS	1 lab	d12eb21a0a
4:79295371 FRAS1 G>A	4	79295371	79295371	G	A	FRAS1	c.3117G>A	NM_025074.7	NP_079350.5:p.(Gly1039=)	NC_000004.11:g.79295371G>A	(Likely) benign	1 lab	d13031a673
2:204820509 ICOS GAAGTGGAAAC>G	2	204820509	204820520	GAAGTGGAAAC	G	ICOS	c.211_220del	NM_012092.4	NP_036224.1:p.(Ser71GlnfsTer7)	NC_000002.11:g.204820511_204820520del	VUS	1 lab	d132210098
19:38966008 RYR1 C>T	19	38966008	38966008	C	T	RYR1	c.4211C>T	NM_000540.2	NP_000531.2:p.(Thr1404Ile)	NC_000019.9:g.38966008C>T	(Likely) benign	1 lab	d1324a105f
X:67938377 STARD8 G>A	X	67938377	67938377	G	A	STARD8	c.1621G>A	NM_001142503.2	NP_001135975.1:p.(Ala541Thr)	NC_000023.10:g.67938377G>A	(Likely) benign	1 lab	d134ee8545
15:31294793 TRPM1 G>A	15	31294793	31294793	G	A	TRPM1	c.4161C>T	NM_001252020.1	NP_001238949.1:p.(Asn1387=)	NC_000015.9:g.31294793G>A	(Likely) benign	1 lab	d136409082
17:7124859 ACADVL C>T	17	7124859	7124859	C	T	ACADVL	c.252C>T	NM_001270448.1	NP_001257377.1:p.(Tyr84=)	NC_000017.10:g.7124859C>T	(Likely) benign	1 lab	d13680de3e
3:52439313 BAP1 G>A	3	52439313	52439313	G	A	BAP1	c.932-3C>T	NM_004656.2	NP_004647.1:p.?	NC_000003.11:g.52439313G>A	(Likely) benign	1 lab	d1370c835f
13:23905366 SACS T>C	13	23905366	23905366	T	C	SACS	c.12649A>G	NM_014363.5	NP_055178.3:p.(Asn4217Asp)	NC_000013.10:g.23905366T>C	(Likely) benign	1 lab	d1371d07dc
2:54858191 SPTBN1 C>T	2	54858191	54858191	C	T	SPTBN1	c.3007C>T	NM_003128.2	NP_003119.2:p.(Arg1003Trp)	NC_000002.11:g.54858191C>T	(Likely) pathogenic	1 lab	d137e32d7e
17:73519758 TSEN54 C>G	17	73519758	73519758	C	G	TSEN54	c.1328C>G	NM_207346.2	NP_997229.2:p.(Ser443Cys)	NC_000017.10:g.73519758C>G	VUS	1 lab	d1380046cb
2:200213698 SATB2 GGAGA>G	2	200213698	200213702	GGAGA	G	SATB2	c.895_898del	NM_001172509.2	NP_001165980.1:p.(Ser299ProfsTer8)	NC_000002.11:g.200213699_200213702del	(Likely) pathogenic	1 lab	d1381d80c3
X:106109202 TBC1D8B C>T	X	106109202	106109202	C	T	TBC1D8B	c.2601C>T	NM_017752.2	NP_060222.2:p.(Phe867=)	NC_000023.10:g.106109202C>T	(Likely) benign	1 lab	d13862e4c3
15:23891470 MAGEL2 G>C	15	23891470	23891470	G	C	MAGEL2	c.1420C>G	NM_019066.4	NP_061939.3:p.(Gln474Glu)	NC_000015.9:g.23891470G>C	VUS	1 lab	d13cfeebfa
11:132527046 OPCML C>T	11	132527046	132527046	C	T	OPCML	c.336G>A	NM_001319103.1	NP_001306032.1:p.(Pro112=)	NC_000011.9:g.132527046C>T	(Likely) benign	1 lab	d13d6a56a1
9:134379600 POMT1 T>G	9	134379600	134379600	T	G	POMT1	c.-6T>G	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134379600T>G	(Likely) benign	1 lab	d13f3b2875
7:4947061 MMD2 A>C	7	4947061	4947061	A	C	MMD2	c.779T>G	NM_001100600.1	NP_001094070.1:p.(Leu260Arg)	NC_000007.13:g.4947061A>C	(Likely) benign	1 lab	d140c5afeb
12:58000936 DTX3 A>C	12	58000936	58000936	A	C	DTX3	c.290A>C	NM_178502.4	NP_848597.1:p.(Gln97Pro)	NC_000012.11:g.58000936A>C	VUS	1 lab	d1423cd344
2:197184364 HECW2 T>C	2	197184364	197184364	T	C	HECW2	c.1250A>G	NM_020760.3	NP_065811.1:p.(Asn417Ser)	NC_000002.11:g.197184364T>C	(Likely) benign	1 lab	d143349a27
4:107165912 TBCK T>C	4	107165912	107165912	T	C	TBCK	c.425A>G	NM_001290768.1	NP_001277697.1:p.(Asn142Ser)	NC_000004.11:g.107165912T>C	VUS	1 lab	d143627fe8
1:236917361 ACTN2 T>C	1	236917361	236917361	T	C	ACTN2	c.1954T>C	NM_001103.3	NP_001094.1:p.(Trp652Arg)	NC_000001.10:g.236917361T>C	VUS	1 lab	d145a61c05
10:73468948 CDH23 T>C	10	73468948	73468948	T	C	CDH23	c.3200T>C	NM_022124.5	NP_071407.4:p.(Met1067Thr)	NC_000010.10:g.73468948T>C	(Likely) benign	1 lab	d145a9267c
4:187517811 FAT1 G>T	4	187517811	187517811	G	T	FAT1	c.12883C>A	NM_005245.3	NP_005236.2:p.(His4295Asn)	NC_000004.11:g.187517811G>T	VUS	1 lab	d146971775
1:243800922 AKT3 A>G	1	243800922	243800922	A	G	AKT3				NC_000001.10:g.243800922A>G	(Likely) benign	1 lab	d146fc46be
16:2367386 ABCA3 C>T	16	2367386	2367386	C	T	ABCA3	c.1009G>A	NM_001089.2	NP_001080.2:p.(Val337Met)	NC_000016.9:g.2367386C>T	VUS	1 lab	d14740db91
X:152806992 ATP2B3 G>A	X	152806992	152806992	G	A	ATP2B3	c.384G>A	NM_021949.3	NP_068768.2:p.(Ala128=)	NC_000023.10:g.152806992G>A	(Likely) benign	1 lab	d14b4306d0
5:79026910 CMYA5 A>T	5	79026910	79026910	A	T	CMYA5	c.2322A>T	NM_153610.5	NP_705838.3:p.(Thr774=)	NC_000005.9:g.79026910A>T	VUS	1 lab	d14b6be4d1
6:129581880 LAMA2 C>T	6	129581880	129581880	C	T	LAMA2	c.2121C>T	NM_000426.3	NP_000417.2:p.(Ser707=)	NC_000006.11:g.129581880C>T	(Likely) benign	1 lab	d14c0a3310
14:105411828 AHNAK2 C>T	14	105411828	105411828	C	T	AHNAK2	c.9960G>A	NM_138420.3	NP_612429.2:p.(Ala3320=)	NC_000014.8:g.105411828C>T	(Likely) benign	1 lab	d14c5f0f78
22:37482458 TMPRSS6 C>A	22	37482458	37482458	C	A	TMPRSS6	c.865G>T	NM_153609.3	NP_705837.1:p.(Val289Leu)	NC_000022.10:g.37482458C>A	VUS	1 lab	d14c68d693
7:91660839 AKAP9 T>G	7	91660839	91660839	T	G	AKAP9	c.4259T>G	NM_005751.4	NP_005742.4:p.(Phe1420Cys)	NC_000007.13:g.91660839T>G	VUS	1 lab	d14d2f1d05
5:127641590 FBN2 T>C	5	127641590	127641590	T	C	FBN2	c.5473A>G	NM_001999.3	NP_001990.2:p.(Ile1825Val)	NC_000005.9:g.127641590T>C	VUS	1 lab	d14dca4c37
5:110446903 WDR36 A>G	5	110446903	110446903	A	G	WDR36	c.1810A>G	NM_139281.2	NP_644810.1:p.(Ile604Val)	NC_000005.9:g.110446903A>G	(Likely) benign	1 lab	d14dec50ed
16:57950040 CNGB1 C>T	16	57950040	57950040	C	T	CNGB1	c.2210G>A	NM_001297.4	NP_001288.3:p.(Arg737His)	NC_000016.9:g.57950040C>T	VUS	1 lab	d14ed6c7e8
X:13795509 GPM6B A>T	X	13795509	13795509	A	T	GPM6B	c.733T>A	NM_001001996.2	NP_001001996.1:p.(Cys245Ser)	NC_000023.10:g.13795509A>T	(Likely) benign	1 lab	d14edc6871
7:128485037 FLNC C>T	7	128485037	128485037	C	T	FLNC	c.3518C>T	NM_001458.4	NP_001449.3:p.(Ala1173Val)	NC_000007.13:g.128485037C>T	VUS	1 lab	d14f9e69da
1:198687356 PTPRC G>A	1	198687356	198687356	G	A	PTPRC	c.1584G>A	NM_002838.4	NP_002829.3:p.(Leu528=)	NC_000001.10:g.198687356G>A	(Likely) benign	1 lab	d155d7d105
X:152770233 BGN C>A	X	152770233	152770233	C	A	BGN	c.144C>A	NM_001711.5	NP_001702.1:p.(Gly48=)	NC_000023.10:g.152770233C>A	(Likely) benign	1 lab	d155f538d2
X:152482238 MAGEA1 T>G	X	152482238	152482238	T	G	MAGEA1	c.773A>C	NM_004988.4	NP_004979.3:p.(Asp258Ala)	NC_000023.10:g.152482238T>G	VUS	1 lab	d156739f4d
X:48334787 FTSJ1 G>A	X	48334787	48334787	G	A	FTSJ1	c.-194+3G>A	NM_177439.2	NP_803188.1:p.?	NC_000023.10:g.48334787G>A	(Likely) benign	1 lab	d158049367
6:33146226 COL11A2 CACCAGGGGG>C	6	33146226	33146241	CACCAGGGGG	C	COL11A2	c.1750_1758del	NM_080680.3	NP_542411.2:p.(Pro584_Gly586del)	NC_000006.11:g.33146233_33146241del	VUS	1 lab	d159ca6695
13:86368496 SLITRK6 A>G	13	86368496	86368496	A	G	SLITRK6	c.2148T>C	NM_032229.3	NP_115605.2:p.(His716=)	NC_000013.10:g.86368496A>G	(Likely) benign	1 lab	d15aa70fb0
12:113796419 PLBD2 T>A	12	113796419	113796419	T	A	PLBD2	c.14T>A	NM_173542.4	NP_775813.2:p.(Met5Lys)	NC_000012.11:g.113796419T>A	(Likely) benign	1 lab	d15cd488cd
8:145638945 SLC39A4 C>T	8	145638945	145638945	C	T	SLC39A4	c.1351G>A	NM_017767.2	NP_060237.2:p.(Glu451Lys)	NC_000008.10:g.145638945C>T	(Likely) benign	1 lab	d15d9cce87
6:152665303 SYNE1 C>T	6	152665303	152665303	C	T	SYNE1	c.12138G>A	NM_182961.3	NP_892006.3:p.(Gln4046=)	NC_000006.11:g.152665303C>T	(Likely) benign	1 lab	d15debdaf0
19:50368516 PNKP G>A	19	50368516	50368516	G	A	PNKP	c.366C>T	NM_007254.3	NP_009185.2:p.(Thr122=)	NC_000019.9:g.50368516G>A	(Likely) benign	1 lab	d15e12fc31
10:55582894 PCDH15 T>C	10	55582894	55582894	T	C	PCDH15	c.4613A>G	NM_001142763.1	NP_001136235.1:p.(Glu1538Gly)	NC_000010.10:g.55582894T>C	(Likely) benign	1 lab	d1604b8914
10:101163323 GOT1 T>A	10	101163323	101163323	T	A	GOT1	c.862A>T	NM_002079.2	NP_002070.1:p.(Met288Leu)	NC_000010.10:g.101163323T>A	(Likely) benign	1 lab	d1608b332c
19:42510921 GRIK5 T>G	19	42510921	42510921	T	G	GRIK5	c.1913A>C	NM_002088.4	NP_002079.3:p.(Asn638Thr)	NC_000019.9:g.42510921T>G	VUS	1 lab	d1626c04c5
21:46930091 COL18A1 C>T	21	46930091	46930091	C	T	COL18A1	c.3600C>T	NM_130445.2	NP_569712.2:p.(Arg1200=)	NC_000021.8:g.46930091C>T	(Likely) benign	1 lab	d16276e3cb
X:48760017 PQBP1 C>T	X	48760017	48760017	C	T	PQBP1	c.586C>T	NM_005710.2	NP_005701.1:p.(Arg196Ter)	NC_000023.10:g.48760017C>T	(Likely) pathogenic	1 lab	d162d2878d
13:47409701 HTR2A G>A	13	47409701	47409701	G	A	HTR2A	c.687C>T	NM_000621.4	NP_000612.1:p.(Leu229=)	NC_000013.10:g.47409701G>A	(Likely) benign	1 lab	d1676788b3
X:66905876 AR G>C	X	66905876	66905876	G	C	AR	c.1793G>C	NM_000044.4	NP_000035.2:p.(Ser598Thr)	NC_000023.10:g.66905876G>C	(Likely) pathogenic	1 lab	d1677439fb
19:49489106 GYS1 C>T	19	49489106	49489106	C	T	GYS1	c.678+1G>A	NM_002103.4	NP_002094.2:p.?	NC_000019.9:g.49489106C>T	(Likely) pathogenic	1 lab	d168d5b44f
16:89351056 ANKRD11 G>A	16	89351056	89351056	G	A	ANKRD11	c.1894C>T	NM_001256182.1	NP_001243111.1:p.(His632Tyr)	NC_000016.9:g.89351056G>A	VUS	1 lab	d1695b94ad
4:6086635 JAKMIP1 T>G	4	6086635	6086635	T	G	JAKMIP1	c.892A>C	NM_001099433.1	NP_001092903.1:p.(Asn298His)	NC_000004.11:g.6086635T>G	(Likely) benign	1 lab	d169a084fb
19:36214630 KMT2B G>A	19	36214630	36214630	G	A	KMT2B	c.3059-3G>A	NM_014727.2	NP_055542.1:p.?	NC_000019.9:g.36214630G>A	(Likely) benign	1 lab	d16babba6a
17:78222462 SLC26A11 G>A	17	78222462	78222462	G	A	SLC26A11	c.1511G>A	NM_173626.3	NP_775897.3:p.(Arg504Gln)	NC_000017.10:g.78222462G>A	(Likely) benign	1 lab	d16cfd7d98
3:167086355 ZBBX G>A	3	167086355	167086355	G	A	ZBBX	c.76C>T	NM_001199201.1	NP_001186130.1:p.(Gln26Ter)	NC_000003.11:g.167086355G>A	VUS	1 lab	d1704073a4
12:132404022 MISSING C>T	12	132404022	132404022	C	T	MISSING				NC_000012.11:g.132404022C>T	VUS	1 lab	d17061f675
1:33794634 PHC2 G>C	1	33794634	33794634	G	C	PHC2	c.2259C>G	NM_198040.2	NP_932157.1:p.(Ile753Met)	NC_000001.10:g.33794634G>C	VUS	1 lab	d170a31d0e
6:33272885 TAPBP C>CCCATG	6	33272885	33272886	C	CCCATG	TAPBP	c.748_749insCATGG	NM_003190.4	NP_003181.3:p.(Trp250SerfsTer49)	NC_000006.11:g.33272885_33272886insCCATG	(Likely) pathogenic	1 lab	d1710ad638
X:123514712 TENM1 G>A	X	123514712	123514712	G	A	TENM1	c.7873C>T	NM_001163278.1	NP_001156750.1:p.(Arg2625Trp)	NC_000023.10:g.123514712G>A	VUS	1 lab	d17219c7cb
4:39241899 WDR19 G>T	4	39241899	39241899	G	T	WDR19	c.2366G>T	NM_025132.3	NP_079408.3:p.(Gly789Val)	NC_000004.11:g.39241899G>T	VUS	1 lab	d17315c220
9:131345114 SPTAN1 G>C	9	131345114	131345114	G	C	SPTAN1	c.1792G>C	NM_001363759.1	NP_001350688.1:p.(Asp598His)	NC_000009.11:g.131345114G>C	VUS	1 lab	d173844a36
11:108153607 ATM G>A	11	108153607	108153607	G	A	ATM	c.3746+1G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108153607G>A	(Likely) pathogenic	1 lab	d174bda7e9
8:104943552 RIMS2 A>C	8	104943552	104943552	A	C	RIMS2	c.2531A>C	NM_001348484.1	NP_001335413.1:p.(Asp844Ala)	NC_000008.10:g.104943552A>C	VUS	1 lab	d174c4ea81
17:8146313 CTC1 G>A	17	8146313	8146313	G	A	CTC1	c.187C>T	NM_025099.6	NP_079375.3:p.(Leu63Phe)	NC_000017.10:g.8146313G>A	(Likely) benign	1 lab	d174efcabb
1:10511484 CORT C>T	1	10511484	10511484	C	T	CORT	c.150C>T	NM_001302.4	NP_001293.3:p.(Leu50=)	NC_000001.10:g.10511484C>T	(Likely) benign	1 lab	d1764fb314
1:161642987 FCGR2B A>T	1	161642987	161642987	A	T	FCGR2B	c.614A>T	NM_004001.4	NP_003992.3:p.(Tyr205Phe)	NC_000001.10:g.161642987A>T	(Likely) benign	1 lab	d1766f6a24
1:22216633 HSPG2 C>A	1	22216633	22216633	C	A	HSPG2	c.415G>T	NM_001291860.1	NP_001278789.1:p.(Glu139Ter)	NC_000001.10:g.22216633C>A	VUS	1 lab	d177215d9b
11:6584682 DNHD1 G>C	11	6584682	6584682	G	C	DNHD1	c.9740G>C	NM_144666.2	NP_653267.2:p.(Arg3247Pro)	NC_000011.9:g.6584682G>C	VUS	1 lab	d177a08be8
1:110151365 GNAT2 C>T	1	110151365	110151365	C	T	GNAT2	c.349G>A	NM_005272.3	NP_005263.1:p.(Gly117Arg)	NC_000001.10:g.110151365C>T	VUS	1 lab	d178106d56
2:169985260 LRP2 C>G	2	169985260	169985260	C	G	LRP2	c.13881G>C	NM_004525.3	NP_004516.2:p.(Ser4627=)	NC_000002.11:g.169985260C>G	(Likely) benign	1 lab	d1784b10e1
21:46899828 COL18A1 C>T	21	46899828	46899828	C	T	COL18A1	c.2506C>T	NM_130444.3	NP_569711.2:p.(Pro836Ser)	NC_000021.8:g.46899828C>T	VUS	1 lab	d1784cc54f
20:10654110 JAG1 GG>C	20	10654110	10654111	GG	C	JAG1	c.68_69delinsG	NM_000214.3	NP_000205.1:p.(Ala23GlyfsTer23)	NC_000020.10:g.10654110_10654111delinsC	(Likely) pathogenic	1 lab	d17b7681e2
14:50101536 DNAAF2 C>G	14	50101536	50101536	C	G	DNAAF2	c.332G>C	NM_018139.2	NP_060609.2:p.(Arg111Pro)	NC_000014.8:g.50101536C>G	(Likely) benign	1 lab	d17c07e5f1
Y:6932115 TBL1Y G>A	Y	6932115	6932115	G	A	TBL1Y	c.382G>A	NM_033284.1	NP_150600.1:p.(Ala128Thr)	NC_000024.9:g.6932115G>A	(Likely) benign	1 lab	d17cd37126
X:84329299 APOOL T>C	X	84329299	84329299	T	C	APOOL	c.620T>C	NM_198450.5	NP_940852.3:p.(Ile207Thr)	NC_000023.10:g.84329299T>C	(Likely) benign	1 lab	d17d1742a5
12:39735394 KIF21A C>T	12	39735394	39735394	C	T	KIF21A	c.1834G>A	NM_001173464.1	NP_001166935.1:p.(Asp612Asn)	NC_000012.11:g.39735394C>T	(Likely) benign	1 lab	d17d91d5b5
8:28575163 EXTL3 C>T	8	28575163	28575163	C	T	EXTL3	c.1587C>T	NM_001440.3	NP_001431.1:p.(Thr529=)	NC_000008.10:g.28575163C>T	(Likely) benign	1 lab	d17dff6ed0
X:69719054 DLG3 G>A	X	69719054	69719054	G	A	DLG3	c.1899G>A	NM_021120.3	NP_066943.2:p.(Leu633=)	NC_000023.10:g.69719054G>A	(Likely) benign	1 lab	d17faf47ae
17:4907312 KIF1C C>T	17	4907312	4907312	C	T	KIF1C	c.884C>T	NM_006612.5	NP_006603.2:p.(Ser295Leu)	NC_000017.10:g.4907312C>T	VUS	1 lab	d1808bda7c
X:39923044 BCOR C>T	X	39923044	39923044	C	T	BCOR	c.3664G>A	NM_001123385.1	NP_001116857.1:p.(Val1222Met)	NC_000023.10:g.39923044C>T	VUS	1 lab	d183ff57f9
9:135772957 TSC1 T>TC	9	135772957	135772958	T	TC	TSC1	c.2665dup	NM_000368.4	NP_000359.1:p.(Glu889GlyfsTer15)	NC_000009.11:g.135772958dup	(Likely) pathogenic	1 lab	d1842083c9
21:33068473 SCAF4 A>G	21	33068473	33068473	A	G	SCAF4	c.1021T>C	NM_020706.2	NP_065757.1:p.(Phe341Leu)	NC_000021.8:g.33068473A>G	(Likely) benign	1 lab	d18603c6dd
19:42791482 CIC A>T	19	42791482	42791482	A	T	CIC	c.3190A>T	NM_001304815.1	NP_001291744.1:p.(Ile1064Phe)	NC_000019.9:g.42791482A>T	(Likely) benign	1 lab	d18700bbe0
5:140963752 DIAPH1 C>T	5	140963752	140963752	C	T	DIAPH1	c.341G>A	NM_001314007.1	NP_001300936.1:p.(Arg114Lys)	NC_000005.9:g.140963752C>T	VUS	1 lab	d1876e49dc
19:46285602 DMPK G>A	19	46285602	46285602	G	A	DMPK	c.28C>T	NM_001288764.1	NP_001275693.1:p.(Arg10Ter)	NC_000019.9:g.46285602G>A	VUS	1 lab	d1899b3316
X:32519958 DMD G>A	X	32519958	32519958	G	A	DMD	c.1925C>T	NM_004010.3	NP_004001.1:p.(Ala642Val)	NC_000023.10:g.32519958G>A	VUS	1 lab	d18c0b4650
1:6504619 ESPN C>T	1	6504619	6504619	C	T	ESPN	c.1069C>T	NM_031475.3	NP_113663.2:p.(Pro357Ser)	NC_000001.10:g.6504619C>T	(Likely) benign	1 lab	d18c7fc7f1
9:418101 DOCK8 C>T	9	418101	418101	C	T	DOCK8	c.3734C>T	NM_203447.3	NP_982272.2:p.(Ser1245Leu)	NC_000009.11:g.418101C>T	(Likely) benign	1 lab	d18cd70cc2
16:2159077 PKD1 C>T	16	2159077	2159077	C	T	PKD1	c.6091G>A	NM_001009944.2	NP_001009944.2:p.(Val2031Met)	NC_000016.9:g.2159077C>T	(Likely) benign	1 lab	d18dc23797
X:10093117 WWC3 C>T	X	10093117	10093117	C	T	WWC3	c.1880C>T	NM_015691.3	NP_056506.2:p.(Pro627Leu)	NC_000023.10:g.10093117C>T	(Likely) benign	1 lab	d18de1a21d
17:29663350 NF1 G>T	17	29663350	29663350	G	T	NF1	c.5944-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663350G>T	(Likely) pathogenic	1 lab	d18ea47ea4
19:18186576 IL12RB1 G>A	19	18186576	18186576	G	A	IL12RB1	c.803C>T	NM_001290024.1	NP_001276953.1:p.(Pro268Leu)	NC_000019.9:g.18186576G>A	VUS	1 lab	d18ea5340c
9:137677858 COL5A1 A>G	9	137677858	137677858	A	G	COL5A1	c.2610A>G	NM_000093.4	NP_000084.3:p.(Pro870=)	NC_000009.11:g.137677858A>G	(Likely) benign	1 lab	d18fbb4ad7
8:145742058 RECQL4 G>A	8	145742058	145742058	G	A	RECQL4	c.445C>T	NM_004260.3	NP_004251.3:p.(Pro149Ser)	NC_000008.10:g.145742058G>A	(Likely) benign	1 lab	d18fe8df91
4:629768 PDE6B C>T	4	629768	629768	C	T	PDE6B	c.711+10C>T	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.629768C>T	(Likely) benign	1 lab	d1912d5954
15:80450470 FAH T>C	15	80450470	80450470	T	C	FAH	c.150T>C	NM_000137.2	NP_000128.1:p.(Phe50=)	NC_000015.9:g.80450470T>C	(Likely) benign	1 lab	d191f6d5c0
17:79479112 ACTG1 G>A	17	79479112	79479112	G	A	ACTG1	c.180C>T	NM_001199954.2	NP_001186883.1:p.(Ser60=)	NC_000017.10:g.79479112G>A	VUS	1 lab	d193639363
19:35624936 LGI4 C>A	19	35624936	35624936	C	A	LGI4	c.242+1G>T	NM_139284.3	NP_644813.1:p.?	NC_000019.9:g.35624936C>A	(Likely) pathogenic	1 lab	d193cb1854
X:107910402 COL4A5 C>T	X	107910402	107910402	C	T	COL4A5	c.3593C>T	NM_033380.2	NP_203699.1:p.(Pro1198Leu)	NC_000023.10:g.107910402C>T	VUS	1 lab	d1948bd99c
X:48418924 TBC1D25 T>C	X	48418924	48418924	T	C	TBC1D25	c.1628T>C	NM_002536.3	NP_002527.1:p.(Leu543Ser)	NC_000023.10:g.48418924T>C	(Likely) benign	1 lab	d1953cbc7c
6:32015622 TNXB G>A	6	32015622	32015622	G	A	TNXB	c.10207C>T	NM_019105.6	NP_061978.6:p.(Gln3403Ter)	NC_000006.11:g.32015622G>A	(Likely) pathogenic	1 lab	d1964ff31a
3:38052001 PLCD1 C>T	3	38052001	38052001	C	T	PLCD1	c.906G>A	NM_001130964.1	NP_001124436.1:p.(Ser302=)	NC_000003.11:g.38052001C>T	(Likely) benign	1 lab	d196a58797
20:57484864 GNAS G>C	20	57484864	57484864	G	C	GNAS	c.*700+5G>C	NM_001077490.2	NP_001070958.1:p.?	NC_000020.10:g.57484864G>C	VUS	1 lab	d19a1ca0c7
14:105405287 AHNAK2 C>T	14	105405287	105405287	C	T	AHNAK2	c.16501G>A	NM_138420.3	NP_612429.2:p.(Val5501Met)	NC_000014.8:g.105405287C>T	(Likely) benign	1 lab	d19a9df2c1
22:38168621 TRIOBP C>T	22	38168621	38168621	C	T	TRIOBP	c.6950C>T	NM_001039141.2	NP_001034230.1:p.(Thr2317Ile)	NC_000022.10:g.38168621C>T	(Likely) benign	1 lab	d19b11303d
7:157155967 DNAJB6 G>A	7	157155967	157155967	G	A	DNAJB6	c.175+3G>A	NM_058246.3	NP_490647.1:p.?	NC_000007.13:g.157155967G>A	(Likely) benign	1 lab	d19c546d95
12:33049435 PKP2 C>T	12	33049435	33049435	C	T	PKP2	c.223+8G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.33049435C>T	(Likely) benign	1 lab	d19d82a691
2:220081167 ABCB6 C>A	2	220081167	220081167	C	A	ABCB6	c.889G>T	NM_005689.2	NP_005680.1:p.(Ala297Ser)	NC_000002.11:g.220081167C>A	VUS	1 lab	d19e6aa15d
X:154194908 F8 C>T	X	154194908	154194908	C	T	F8	c.1064G>A	NM_000132.3	NP_000123.1:p.(Arg355Gln)	NC_000023.10:g.154194908C>T	(Likely) benign	1 lab	d19fbfedeb
2:96958830 SNRNP200 G>A	2	96958830	96958830	G	A	SNRNP200	c.2040C>T	NM_014014.4	NP_054733.2:p.(Phe680=)	NC_000002.11:g.96958830G>A	(Likely) benign	1 lab	d1a0de1132
1:982753 AGRN C>T	1	982753	982753	C	T	AGRN				NC_000001.10:g.982753C>T	(Likely) benign	1 lab	d1a0fe31d9
X:101858340 ARMCX5 T>A	X	101858340	101858340	T	A	ARMCX5	c.1271T>A	NM_001168479.1	NP_001161951.1:p.(Phe424Tyr)	NC_000023.10:g.101858340T>A	(Likely) benign	1 lab	d1a1483af0
16:70530256 COG4 G>A	16	70530256	70530256	G	A	COG4	c.1560C>T	NM_015386.2	NP_056201.2:p.(Ala520=)	NC_000016.9:g.70530256G>A	(Likely) benign	1 lab	d1a1807175
17:40869994 EZH1 C>G	17	40869994	40869994	C	G	EZH1	c.1023G>C	NM_001991.5	NP_001982.2:p.(Leu341=)	NC_000017.10:g.40869994C>G	VUS	1 lab	d1a2f0de10
22:30862372 SEC14L3 G>A	22	30862372	30862372	G	A	SEC14L3	c.298C>T	NM_001257378.1	NP_001244307.1:p.(Leu100Phe)	NC_000022.10:g.30862372G>A	(Likely) benign	1 lab	d1a322d86a
5:112174639 APC T>G	5	112174639	112174639	T	G	APC	c.3348T>G	NM_001354895.1	NP_001341824.1:p.(Gly1116=)	NC_000005.9:g.112174639T>G	VUS	1 lab	d1a3636a46
3:9962283 IL17RC C>T	3	9962283	9962283	C	T	IL17RC	c.787C>T	NM_153461.3	NP_703191.1:p.(Pro263Ser)	NC_000003.11:g.9962283C>T	VUS	1 lab	d1a398325b
9:139990810 MAN1B1 G>A	9	139990810	139990810	G	A	MAN1B1	c.587G>A	NM_016219.4	NP_057303.2:p.(Arg196His)	NC_000009.11:g.139990810G>A	(Likely) benign	1 lab	d1a3f45a9c
17:40011300 KLHL11 C>T	17	40011300	40011300	C	T	KLHL11	c.819G>A	NM_018143.3	NP_060613.1:p.(Trp273Ter)	NC_000017.10:g.40011300C>T	VUS	1 lab	d1a50ed070
15:101718292 CHSY1 C>T	15	101718292	101718292	C	T	CHSY1	c.1710G>A	NM_014918.4	NP_055733.2:p.(Leu570=)	NC_000015.9:g.101718292C>T	(Likely) benign	1 lab	d1a5f02e20
4:436534 ZNF721 T>C	4	436534	436534	T	C	ZNF721	c.1722A>G	NM_133474.4	NP_597731.2:p.(Val574=)	NC_000004.11:g.436534T>C	(Likely) benign	1 lab	d1a816033e
9:2635456 VLDLR G>A	9	2635456	2635456	G	A	VLDLR	c.86G>A	NM_003383.4	NP_003374.3:p.(Arg29Lys)	NC_000009.11:g.2635456G>A	(Likely) benign	1 lab	d1a867e19b
1:248059798 OR2W3 T>A	1	248059798	248059798	T	A	OR2W3	c.910T>A	NM_001001957.2	NP_001001957.2:p.(Leu304Met)	NC_000001.10:g.248059798T>A	(Likely) benign	1 lab	d1aeb146d1
15:23889913 MAGEL2 C>T	15	23889913	23889913	C	T	MAGEL2	c.2977G>A	NM_019066.4	NP_061939.3:p.(Val993Met)	NC_000015.9:g.23889913C>T	(Likely) benign	1 lab	d1b03f96cd
16:2100386 TSC2 T>G	16	2100386	2100386	T	G	TSC2	c.139-15T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2100386T>G	(Likely) benign	1 lab	d1b0461de7
11:108114705 ATM C>G	11	108114705	108114705	C	G	ATM	c.522C>G	NM_000051.3	NP_000042.3:p.(Leu174=)	NC_000011.9:g.108114705C>G	(Likely) benign	1 lab	d1b42f7dab
X:9863082 SHROOM2 C>T	X	9863082	9863082	C	T	SHROOM2	c.1134C>T	NM_001649.3	NP_001640.1:p.(Leu378=)	NC_000023.10:g.9863082C>T	(Likely) benign	1 lab	d1b454f4d8
12:49579760 TUBA1A G>A	12	49579760	49579760	G	A	TUBA1A	c.389C>T	NM_001270399.1	NP_001257328.1:p.(Thr130Met)	NC_000012.11:g.49579760G>A	VUS	1 lab	d1b5819206
11:76873271 MYO7A C>G	11	76873271	76873271	C	G	MYO7A	c.1449C>G	NM_000260.3	NP_000251.3:p.(Asp483Glu)	NC_000011.9:g.76873271C>G	(Likely) benign	1 lab	d1b794d074
8:10756202 XKR6 C>T	8	10756202	10756202	C	T	XKR6	c.1186G>A	NM_173683.3	NP_775954.2:p.(Ala396Thr)	NC_000008.10:g.10756202C>T	VUS	1 lab	d1b7b83675
5:66479581 CD180 C>T	5	66479581	66479581	C	T	CD180	c.1090G>A	NM_005582.3	NP_005573.2:p.(Gly364Ser)	NC_000005.9:g.66479581C>T	VUS	1 lab	d1b90ccb4e
X:347206 PPP2R3B G>A	X	347206	347206	G	A	PPP2R3B	c.221C>T	NM_013239.4	NP_037371.2:p.(Pro74Leu)	NC_000023.10:g.347206G>A	(Likely) benign	1 lab	d1ba1e7c90
22:17586738 IL17RA C>G	22	17586738	17586738	C	G	IL17RA	c.944-5C>G	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17586738C>G	VUS	1 lab	d1bd49120e
22:46760596 CELSR1 G>C	22	46760596	46760596	G	C	CELSR1	c.8592C>G	NM_014246.1	NP_055061.1:p.(Pro2864=)	NC_000022.10:g.46760596G>C	(Likely) benign	1 lab	d1beeb3476
2:29293502 PCARE T>C	2	29293502	29293502	T	C	PCARE	c.3626A>G	NM_001029883.2	NP_001025054.1:p.(Asp1209Gly)	NC_000002.11:g.29293502T>C	(Likely) benign	1 lab	d1bfae1575
13:21142139 IFT88 A>G	13	21142139	21142139	A	G	IFT88	c.-138+3A>G	NM_001353568.1	NP_001340497.1:p.?	NC_000013.10:g.21142139A>G	VUS	1 lab	d1c1977e9c
11:66457629 SPTBN2 G>A	11	66457629	66457629	G	A	SPTBN2	c.5691C>T	NM_006946.3	NP_008877.1:p.(Ala1897=)	NC_000011.9:g.66457629G>A	(Likely) benign	1 lab	d1c268707f
9:117598 FOXD4 C>T	9	117598	117598	C	T	FOXD4	c.522G>A	NM_207305.4	NP_997188.2:p.(Lys174=)	NC_000009.11:g.117598C>T	(Likely) benign	1 lab	d1c2cbfa4a
9:135204560 SETX T>C	9	135204560	135204560	T	C	SETX	c.2425A>G	NM_015046.5	NP_055861.3:p.(Ile809Val)	NC_000009.11:g.135204560T>C	(Likely) benign	1 lab	d1c467f3c6
17:43516988 PLEKHM1 C>T	17	43516988	43516988	C	T	PLEKHM1	c.2914G>A	NM_014798.2	NP_055613.1:p.(Val972Met)	NC_000017.10:g.43516988C>T	(Likely) benign	1 lab	d1c47bc414
17:8131837 CTC1 C>A	17	8131837	8131837	C	A	CTC1	c.3498G>T	NM_025099.6	NP_079375.3:p.(Ser1166=)	NC_000017.10:g.8131837C>A	(Likely) benign	1 lab	d1c59effe7
X:55044036 ALAS2 C>T	X	55044036	55044036	C	T	ALAS2	c.886G>A	NM_000032.5	NP_000023.2:p.(Gly296Arg)	NC_000023.10:g.55044036C>T	VUS	1 lab	d1c71246bd
13:32810232 FRY G>A	13	32810232	32810232	G	A	FRY	c.5733G>A	NM_023037.2	NP_075463.2:p.(Ala1911=)	NC_000013.10:g.32810232G>A	(Likely) benign	1 lab	d1c713e4c1
8:100733288 VPS13B C>G	8	100733288	100733288	C	G	VPS13B	c.7125+13C>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100733288C>G	(Likely) benign	1 lab	d1c7205bf5
17:42429462 GRN GC>G	17	42429462	42429463	GC	G	GRN	c.1260del	NM_002087.4	NP_002078.1:p.(Ser420ArgfsTer71)	NC_000017.10:g.42429463del	(Likely) pathogenic	1 lab	d1c7aade55
19:8656880 ADAMTS10 G>A	19	8656880	8656880	G	A	ADAMTS10	c.167C>T	NM_001282352.1	NP_001269281.1:p.(Ala56Val)	NC_000019.9:g.8656880G>A	(Likely) benign	1 lab	d1c7afc3cb
12:124841323 NCOR2 C>T	12	124841323	124841323	C	T	NCOR2	c.3106G>A	NM_006312.5	NP_006303.4:p.(Ala1036Thr)	NC_000012.11:g.124841323C>T	(Likely) benign	1 lab	d1c7e57972
9:14748573 FREM1 C>G	9	14748573	14748573	C	G	FREM1	c.5622G>C	NM_144966.5	NP_659403.4:p.(Trp1874Cys)	NC_000009.11:g.14748573C>G	VUS	1 lab	d1ca3070b2
X:17744345 NHS G>T	X	17744345	17744345	G	T	NHS	c.2119G>T	NM_001291867.1	NP_001278796.1:p.(Ala707Ser)	NC_000023.10:g.17744345G>T	VUS	1 lab	d1cbc0d0a5
18:7013877 LAMA1 G>A	18	7013877	7013877	G	A	LAMA1	c.3300C>T	NM_005559.3	NP_005550.2:p.(Asp1100=)	NC_000018.9:g.7013877G>A	(Likely) benign	1 lab	d1cdc89ab5
17:39254013 KRTAP4-8 G>C	17	39254013	39254013	G	C	KRTAP4-8	c.324C>G	NM_031960.2	NP_114166.1:p.(Ser108Arg)	NC_000017.10:g.39254013G>C	VUS	1 lab	d1ce547f96
3:130113752 COL6A5 T>C	3	130113752	130113752	T	C	COL6A5	c.3012T>C	NM_001278298.1	NP_001265227.1:p.(Ala1004=)	NC_000003.11:g.130113752T>C	(Likely) benign	1 lab	d1ced73151
1:74621485 LRRIQ3 C>G	1	74621485	74621485	C	G	LRRIQ3	c.639G>C	NM_001105659.2	NP_001099129.1:p.(Leu213=)	NC_000001.10:g.74621485C>G	(Likely) benign	1 lab	d1cf53935f
17:29527567 NF1 ACT>A	17	29527567	29527571	ACT	A	NF1	c.1019_1020del	NM_001042492.3	NP_001035957.1:p.(Ser340CysfsTer12)	NC_000017.10:g.29527570_29527571del	(Likely) pathogenic	1 lab	d1cf5e24bb
12:2022191 CACNA2D4 G>A	12	2022191	2022191	G	A	CACNA2D4	c.424C>T	NM_172364.4	NP_758952.4:p.(Gln142Ter)	NC_000012.11:g.2022191G>A	(Likely) pathogenic	1 lab	d1d2494907
X:130415885 IGSF1 G>C	X	130415885	130415885	G	C	IGSF1	c.1280C>G	NM_001170961.1	NP_001164432.1:p.(Pro427Arg)	NC_000023.10:g.130415885G>C	VUS	1 lab	d1d28f37f5
16:1259223 CACNA1H G>A	16	1259223	1259223	G	A	CACNA1H	c.3555G>A	NM_021098.2	NP_066921.2:p.(Ala1185=)	NC_000016.9:g.1259223G>A	(Likely) benign	1 lab	d1d4fa72bc
5:141694008 SPRY4 G>A	5	141694008	141694008	G	A	SPRY4	c.666C>T	NM_001293289.1	NP_001280218.1:p.(His222=)	NC_000005.9:g.141694008G>A	(Likely) benign	1 lab	d1d652e506
17:20363677 LGALS9B G>C	17	20363677	20363677	G	C	LGALS9B	c.119C>G	NM_001042685.2	NP_001036150.1:p.(Ser40Cys)	NC_000017.10:g.20363677G>C	(Likely) benign	1 lab	d1d940fd96
2:179497669 TTN A>G	2	179497669	179497669	A	G	TTN	c.43189T>C	NM_001267550.1	NP_001254479.1:p.(Ser14397Pro)	NC_000002.11:g.179497669A>G	VUS	1 lab	d1da134d70
9:32984665 APTX C>T	9	32984665	32984665	C	T	APTX	c.734G>A	NM_175073.2	NP_778243.1:p.(Arg245His)	NC_000009.11:g.32984665C>T	VUS	1 lab	d1daba9e64
16:2239121 CASKIN1 G>A	16	2239121	2239121	G	A	CASKIN1	c.524C>T	NM_020764.3	NP_065815.1:p.(Ala175Val)	NC_000016.9:g.2239121G>A	VUS	1 lab	d1dadc29c4
8:11162511 MTMR9 A>G	8	11162511	11162511	A	G	MTMR9	c.579A>G	NM_015458.4	NP_056273.2:p.(Lys193=)	NC_000008.10:g.11162511A>G	(Likely) benign	1 lab	d1db016d80
17:80404516 CYBC1 T>C	17	80404516	80404516	T	C	CYBC1	c.184A>G	NM_001193653.1	NP_001180582.1:p.(Asn62Asp)	NC_000017.10:g.80404516T>C	VUS	1 lab	d1dd9f3cbe
6:33661440 ITPR3 C>T	6	33661440	33661440	C	T	ITPR3	c.7743C>T	NM_002224.3	NP_002215.2:p.(Thr2581=)	NC_000006.11:g.33661440C>T	(Likely) benign	1 lab	d1de9d5be7
X:96139502 RPA4 A>G	X	96139502	96139502	A	G	RPA4	c.193A>G	NM_013347.4	NP_037479.1:p.(Lys65Glu)	NC_000023.10:g.96139502A>G	(Likely) benign	1 lab	d1dfb6408a
7:92119224 PEX1 C>G	7	92119224	92119224	C	G	PEX1	c.2816G>C	NM_001282678.1	NP_001269607.1:p.(Ser939Thr)	NC_000007.13:g.92119224C>G	VUS	1 lab	d1dfe1bb2b
2:55277015 RTN4 G>C	2	55277015	55277015	G	C	RTN4	c.422C>G	NM_020532.4	NP_065393.1:p.(Ala141Gly)	NC_000002.11:g.55277015G>C	(Likely) benign	1 lab	d1e0ec251a
15:64025304 HERC1 T>G	15	64025304	64025304	T	G	HERC1	c.2687A>C	NM_003922.3	NP_003913.3:p.(His896Pro)	NC_000015.9:g.64025304T>G	VUS	1 lab	d1e210a231
6:80223324 LCA5 G>A	6	80223324	80223324	G	A	LCA5	c.325C>T	NM_181714.3	NP_859065.2:p.(Leu109=)	NC_000006.11:g.80223324G>A	(Likely) benign	1 lab	d1e268caf3
1:172501617 SUCO G>C	1	172501617	172501617	G	C	SUCO	c.5G>C	NM_016227.3	NP_057311.3:p.(Arg2Thr)	NC_000001.10:g.172501617G>C	(Likely) benign	1 lab	d1e43e1f50
15:60792103 RORA T>A	15	60792103	60792103	T	A	RORA	c.1494A>T	NM_134260.2	NP_599022.1:p.(Gly498=)	NC_000015.9:g.60792103T>A	(Likely) benign	1 lab	d1e5d28d6a
11:1252684 MUC5B C>T	11	1252684	1252684	C	T	MUC5B	c.1572C>T	NM_002458.2	NP_002449.2:p.(Phe524=)	NC_000011.9:g.1252684C>T	(Likely) benign	1 lab	d1e9e02eb1
14:31549832 AP4S1 G>A	14	31549832	31549832	G	A	AP4S1	c.348G>A	NM_001254727.1	NP_001241656.1:p.(Met116Ile)	NC_000014.8:g.31549832G>A	(Likely) benign	1 lab	d1ee74981d
3:69998233 MITF A>G	3	69998233	69998233	A	G	MITF	c.743A>G	NM_001354607.1	NP_001341536.1:p.(Tyr248Cys)	NC_000003.11:g.69998233A>G	VUS	1 lab	d1ef027d41
2:219114108 ARPC2 A>C	2	219114108	219114108	A	C	ARPC2	c.698A>C	NM_152862.3	NP_690601.1:p.(Asn233Thr)	NC_000002.11:g.219114108A>C	(Likely) benign	1 lab	d1ef68dc29
2:179665189 TTN C>T	2	179665189	179665189	C	T	TTN	c.516G>A	NM_001267550.1	NP_001254479.1:p.(Gly172=)	NC_000002.11:g.179665189C>T	(Likely) benign	1 lab	d1ef75b847
2:74719517 TTC31 G>A	2	74719517	74719517	G	A	TTC31	c.1106G>A	NM_022492.4	NP_071937.4:p.(Arg369Gln)	NC_000002.11:g.74719517G>A	(Likely) benign	1 lab	d1efad0904
11:72005734 CLPB T>A	11	72005734	72005734	T	A	CLPB	c.1580A>T	NM_030813.6	NP_110440.1:p.(Asp527Val)	NC_000011.9:g.72005734T>A	VUS	1 lab	d1efc64d3c
X:70683770 TAF1 TGAG>T	X	70683770	70683781	TGAG	T	TAF1	c.5505_5507del	NM_004606.5	NP_004597.3:p.(Glu1837del)	NC_000023.10:g.70683779_70683781del	VUS	1 lab	d1efd62146
19:56244721 NLRP9 G>GT	19	56244721	56244726	G	GT	NLRP9	c.475dup	NM_176820.3	NP_789790.2:p.(Thr159AsnfsTer31)	NC_000019.9:g.56244726dup	VUS	1 lab	d1effeca77
21:45949757 TSPEAR C>T	21	45949757	45949757	C	T	TSPEAR	c.510G>A	NM_001272037.1	NP_001258966.1:p.(Ala170=)	NC_000021.8:g.45949757C>T	(Likely) benign	1 lab	d1f0863edd
19:50364953 PNKP C>A	19	50364953	50364953	C	A	PNKP	c.1299-1G>T	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50364953C>A	(Likely) pathogenic	1 lab	d1f125c7c1
X:54475366 FGD1 C>T	X	54475366	54475366	C	T	FGD1	c.2309G>A	NM_004463.2	NP_004454.2:p.(Arg770His)	NC_000023.10:g.54475366C>T	VUS	1 lab	d1f126fd3d
2:234237188 SAG C>T	2	234237188	234237188	C	T	SAG	c.577C>T	NM_000541.4	NP_000532.2:p.(Arg193Ter)	NC_000002.11:g.234237188C>T	(Likely) pathogenic	1 lab	d1f1a7a482
8:145001510 PLEC G>A	8	145001510	145001510	G	A	PLEC	c.4168-7C>T	NM_201380.3	NP_958782.1:p.?	NC_000008.10:g.145001510G>A	(Likely) benign	1 lab	d1f2003b59
2:179474508 TTN C>G	2	179474508	179474508	C	G	TTN	c.51642G>C	NM_001267550.1	NP_001254479.1:p.(Glu17214Asp)	NC_000002.11:g.179474508C>G	VUS	1 lab	d1f2d4ad35
X:67938204 STARD8 A>G	X	67938204	67938204	A	G	STARD8	c.1448A>G	NM_001142503.2	NP_001135975.1:p.(Glu483Gly)	NC_000023.10:g.67938204A>G	(Likely) benign	1 lab	d1f46c262d
6:97339268 NDUFAF4 C>A	6	97339268	97339268	C	A	NDUFAF4	c.241-1G>T	NM_014165.3	NP_054884.1:p.?	NC_000006.11:g.97339268C>A	(Likely) pathogenic	1 lab	d1f4f158a7
11:17428510 ABCC8 G>T	11	17428510	17428510	G	T	ABCC8	c.3153C>A	NM_001351295.1	NP_001338224.1:p.(Ile1051=)	NC_000011.9:g.17428510G>T	(Likely) benign	1 lab	d1f6800229
7:92730918 SAMD9 A>G	7	92730918	92730918	A	G	SAMD9	c.4493T>C	NM_017654.3	NP_060124.2:p.(Ile1498Thr)	NC_000007.13:g.92730918A>G	VUS	1 lab	d1f751cef9
17:44101601 MAPT G>A	17	44101601	44101601	G	A	MAPT	c.*64G>A	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44101601G>A	VUS	1 lab	d1fd482e4c
20:25300832 ABHD12 C>T	20	25300832	25300832	C	T	ABHD12	c.542+3G>A	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25300832C>T	(Likely) benign	1 lab	d1fe5e18f9
7:106921803 COG5 G>T	7	106921803	106921803	G	T	COG5	c.1610C>A	NM_001161520.1	NP_001154992.1:p.(Ala537Asp)	NC_000007.13:g.106921803G>T	VUS	1 lab	d1feeab43e
6:128320016 PTPRK C>T	6	128320016	128320016	C	T	PTPRK	c.2576G>A	NM_001291981.1	NP_001278910.1:p.(Arg859His)	NC_000006.11:g.128320016C>T	(Likely) benign	1 lab	d1feefb1a5
16:29496328 NPIPB12 A>G	16	29496328	29496328	A	G	NPIPB12	c.1469T>C	NM_001355401.1	NP_001342330.1:p.(Leu490Pro)	NC_000016.9:g.29496328A>G	VUS	1 lab	d1fef28f82
11:95568489 MTMR2 C>T	11	95568489	95568489	C	T	MTMR2	c.1681G>A	NM_001243571.1	NP_001230500.1:p.(Ala561Thr)	NC_000011.9:g.95568489C>T	(Likely) benign	1 lab	d1ffd8509a
6:41129208 TREM2 G>A	6	41129208	41129208	G	A	TREM2	c.184C>T	NM_018965.3	NP_061838.1:p.(Arg62Cys)	NC_000006.11:g.41129208G>A	(Likely) benign	1 lab	d200bc547f
18:56936443 RAX C>CGGCGGT	18	56936443	56936453	C	CGGCGGT	RAX	c.828_833dup	NM_013435.2	NP_038463.2:p.(Pro281_Pro282dup)	NC_000018.9:g.56936448_56936453dup	VUS	1 lab	d2062ca14a
13:110862523 COL4A1 T>A	13	110862523	110862523	T	A	COL4A1	c.505A>T	NM_001845.5	NP_001836.3:p.(Met169Leu)	NC_000013.10:g.110862523T>A	(Likely) benign	1 lab	d206d2c038
11:67925546 KMT5B T>C	11	67925546	67925546	T	C	KMT5B	c.1751A>G	NM_001300907.1	NP_001287836.1:p.(Asn584Ser)	NC_000011.9:g.67925546T>C	(Likely) benign	1 lab	d20772f400
4:68606417 GNRHR G>A	4	68606417	68606417	G	A	GNRHR	c.640C>T	NM_001012763.1	NP_001012781.1:p.(Gln214Ter)	NC_000004.11:g.68606417G>A	(Likely) pathogenic	1 lab	d207aee5ad
12:40713807 LRRK2 G>A	12	40713807	40713807	G	A	LRRK2	c.4845G>A	NM_198578.3	NP_940980.3:p.(Val1615=)	NC_000012.11:g.40713807G>A	(Likely) benign	1 lab	d20843c56c
8:25344792 CDCA2 A>G	8	25344792	25344792	A	G	CDCA2	c.1430A>G	NM_001317906.1	NP_001304835.1:p.(His477Arg)	NC_000008.10:g.25344792A>G	(Likely) benign	1 lab	d209516447
2:32474716 NLRC4 T>C	2	32474716	32474716	T	C	NLRC4	c.2217A>G	NM_021209.4	NP_067032.3:p.(Lys739=)	NC_000002.11:g.32474716T>C	(Likely) benign	1 lab	d20c54b04d
10:29822026 SVIL C>T	10	29822026	29822026	C	T	SVIL	c.1270G>A	NM_021738.2	NP_068506.2:p.(Glu424Lys)	NC_000010.10:g.29822026C>T	(Likely) benign	1 lab	d20e4409c2
19:49490629 GYS1 C>T	19	49490629	49490629	C	T	GYS1	c.314G>A	NM_002103.4	NP_002094.2:p.(Arg105His)	NC_000019.9:g.49490629C>T	VUS	1 lab	d210c6e63b
9:123715054 C5 T>C	9	123715054	123715054	T	C	C5	c.5012A>G	NM_001317163.1	NP_001304092.1:p.(Asp1671Gly)	NC_000009.11:g.123715054T>C	VUS	1 lab	d211fdc376
1:63876815 ALG6 A>G	1	63876815	63876815	A	G	ALG6	c.495-2A>G	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63876815A>G	VUS	1 lab	d21577a886
1:63090945 DOCK7 T>G	1	63090945	63090945	T	G	DOCK7	c.1410A>C	NM_001330614.1	NP_001317543.1:p.(Thr470=)	NC_000001.10:g.63090945T>G	(Likely) benign	1 lab	d216064557
6:33140900 COL11A2 G>A	6	33140900	33140900	G	A	COL11A2	c.2737-10C>T	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33140900G>A	(Likely) benign	1 lab	d216e44275
7:45145097 TBRG4 G>A	7	45145097	45145097	G	A	TBRG4	c.711C>T	NM_001261834.1	NP_001248763.1:p.(Thr237=)	NC_000007.13:g.45145097G>A	(Likely) benign	1 lab	d2170ca6bf
10:104176651 PSD G>A	10	104176651	104176651	G	A	PSD	c.145C>T	NM_001270965.1	NP_001257894.1:p.(Arg49Ter)	NC_000010.10:g.104176651G>A	VUS	1 lab	d21b329082
17:17700628 RAI1 C>A	17	17700628	17700628	C	A	RAI1	c.4366C>A	NM_030665.3	NP_109590.3:p.(His1456Asn)	NC_000017.10:g.17700628C>A	(Likely) benign	1 lab	d21b64b7ac
12:80604643 OTOGL G>A	12	80604643	80604643	G	A	OTOGL	c.69G>A	NM_173591.3	NP_775862.3:p.(Ser23=)	NC_000012.11:g.80604643G>A	(Likely) benign	1 lab	d21c1c1f47
5:35800187 SPEF2 A>AG	5	35800187	35800188	A	AG	SPEF2	c.4949dup	NM_024867.4	NP_079143.3:p.(Ser1650ArgfsTer26)	NC_000005.9:g.35800188dup	(Likely) pathogenic	1 lab	d21c4815ee
16:1259247 CACNA1H G>T	16	1259247	1259247	G	T	CACNA1H	c.3579G>T	NM_021098.2	NP_066921.2:p.(Leu1193=)	NC_000016.9:g.1259247G>T	(Likely) benign	1 lab	d21cd78b4d
1:85136426 SSX2IP A>G	1	85136426	85136426	A	G	SSX2IP	c.116T>C	NM_001166417.1	NP_001159889.1:p.(Leu39Pro)	NC_000001.10:g.85136426A>G	VUS	1 lab	d21eb77026
17:79478236 ACTG1 C>T	17	79478236	79478236	C	T	ACTG1	c.780G>A	NM_001199954.2	NP_001186883.1:p.(Ala260=)	NC_000017.10:g.79478236C>T	(Likely) benign	1 lab	d21f60af1a
X:48978825 GPKOW T>C	X	48978825	48978825	T	C	GPKOW	c.379A>G	NM_015698.5	NP_056513.2:p.(Thr127Ala)	NC_000023.10:g.48978825T>C	(Likely) benign	1 lab	d220b6b60a
17:39923802 JUP G>A	17	39923802	39923802	G	A	JUP	c.738C>T	NM_002230.2	NP_002221.1:p.(Ala246=)	NC_000017.10:g.39923802G>A	(Likely) benign	1 lab	d221c82085
3:12660097 RAF1 C>T	3	12660097	12660097	C	T	RAF1	c.124G>A	NM_002880.3	NP_002871.1:p.(Ala42Thr)	NC_000003.11:g.12660097C>T	VUS	1 lab	d221e91a25
3:38180350 MYD88 G>C	3	38180350	38180350	G	C	MYD88	c.198G>C	NM_001172567.1	NP_001166038.1:p.(Glu66Asp)	NC_000003.11:g.38180350G>C	VUS	1 lab	d22573aa83
12:68051484 DYRK2 A>G	12	68051484	68051484	A	G	DYRK2	c.797A>G	NM_006482.2	NP_006473.2:p.(Glu266Gly)	NC_000012.11:g.68051484A>G	VUS	1 lab	d2263a499d
6:129835652 LAMA2 C>T	6	129835652	129835652	C	T	LAMA2	c.9123C>T	NM_000426.3	NP_000417.2:p.(Val3041=)	NC_000006.11:g.129835652C>T	(Likely) benign	1 lab	d226502e69
22:50659098 TUBGCP6 C>T	22	50659098	50659098	C	T	TUBGCP6	c.3690G>A	NM_020461.3	NP_065194.2:p.(Ser1230=)	NC_000022.10:g.50659098C>T	(Likely) benign	1 lab	d2275d725f
17:41209088 BRCA1 C>G	17	41209088	41209088	C	G	BRCA1	c.5258G>C	NM_007294.3	NP_009225.1:p.(Arg1753Thr)	NC_000017.10:g.41209088C>G	VUS	1 lab	d2278e553f
11:133816128 MISSING G>A	11	133816128	133816128	G	A	MISSING				NC_000011.9:g.133816128G>A	(Likely) benign	1 lab	d228f65c06
11:17627548 OTOG G>A	11	17627548	17627548	G	A	OTOG	c.4058G>A	NM_001277269.1	NP_001264198.1:p.(Arg1353Gln)	NC_000011.9:g.17627548G>A	(Likely) benign	1 lab	d22a8ca546
17:78367150 RNF213 G>A	17	78367150	78367150	G	A	RNF213	c.15476G>A	NM_001256071.2	NP_001243000.2:p.(Arg5159Lys)	NC_000017.10:g.78367150G>A	(Likely) benign	1 lab	d22ac7f136
17:37822019 TCAP A>C	17	37822019	37822019	A	C	TCAP	c.161A>C	NM_003673.3	NP_003664.1:p.(Gln54Pro)	NC_000017.10:g.37822019A>C	VUS	1 lab	d22c000c87
10:93699734 BTAF1 A>G	10	93699734	93699734	A	G	BTAF1	c.164A>G	NM_003972.3	NP_003963.1:p.(Asn55Ser)	NC_000010.10:g.93699734A>G	(Likely) benign	1 lab	d22cf7b621
5:37226877 CPLANE1 TA>T	5	37226877	37226885	TA	T	CPLANE1	c.1819del	NM_001384732.1	NP_001371661.1:p.(Tyr607ThrfsTer6)	NC_000005.9:g.37226885del	(Likely) pathogenic	1 lab	d22e023af8
2:128390823 MYO7B T>TC	2	128390823	128390828	T	TC	MYO7B	c.5328-5dup	NM_001080527.1	NP_001073996.1:p.?	NC_000002.11:g.128390828dup	(Likely) benign	1 lab	d23053c13e
17:29588769 NF1 G>C	17	29588769	29588769	G	C	NF1	c.4555G>C	NM_000267.3	NP_000258.1:p.(Ala1519Pro)	NC_000017.10:g.29588769G>C	(Likely) pathogenic	1 lab	d23082db48
9:133573588 EXOSC2 C>A	9	133573588	133573588	C	A	EXOSC2	c.310C>A	NM_014285.7	NP_055100.2:p.(Leu104Met)	NC_000009.11:g.133573588C>A	VUS	1 lab	d2308933e7
4:85687117 WDFY3 G>A	4	85687117	85687117	G	A	WDFY3	c.5034C>T	NM_014991.4	NP_055806.2:p.(His1678=)	NC_000004.11:g.85687117G>A	(Likely) benign	1 lab	d2310423ce
8:30464658 GTF2E2 C>A	8	30464658	30464658	C	A	GTF2E2	c.559G>T	NM_002095.5	NP_002086.1:p.(Asp187Tyr)	NC_000008.10:g.30464658C>A	(Likely) pathogenic	1 lab	d2310c706b
17:41258573 BRCA1 G>A	17	41258573	41258573	G	A	BRCA1	c.135-23C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258573G>A	(Likely) benign	1 lab	d231de903a
21:44275885 WDR4 G>A	21	44275885	44275885	G	A	WDR4	c.195C>T	NM_001260477.1	NP_001247406.1:p.(Gly65=)	NC_000021.8:g.44275885G>A	(Likely) benign	1 lab	d232081647
14:58895012 KIAA0586 GA>G	14	58895012	58895020	GA	G	KIAA0586	c.38del	NM_001329943.3	NP_001316872.1:p.(Lys13ArgfsTer6)	NC_000014.8:g.58895020del	(Likely) pathogenic	1 lab	d2333f9a45
5:35026537 AGXT2 C>T	5	35026537	35026537	C	T	AGXT2	c.848G>A	NM_031900.4	NP_114106.1:p.(Gly283Glu)	NC_000005.9:g.35026537C>T	VUS	1 lab	d2335f8de9
12:15035178 MGP A>G	12	15035178	15035178	A	G	MGP	c.282T>C	NM_001190839.2	NP_001177768.1:p.(Asn94=)	NC_000012.11:g.15035178A>G	(Likely) benign	1 lab	d2339c0afa
14:75473340 EIF2B2 C>T	14	75473340	75473340	C	T	EIF2B2	c.754C>T	NM_014239.3	NP_055054.1:p.(His252Tyr)	NC_000014.8:g.75473340C>T	VUS	1 lab	d2363152b5
12:83289970 TMTC2 C>A	12	83289970	83289970	C	A	TMTC2	c.1028C>A	NM_152588.3	NP_689801.1:p.(Thr343Lys)	NC_000012.11:g.83289970C>A	VUS	1 lab	d2368533c7
9:127265390 NR5A1 TG>T	9	127265390	127265392	TG	T	NR5A1	c.211del	NM_004959.5	NP_004950.2:p.(Gln71ArgfsTer4)	NC_000009.11:g.127265392del	(Likely) pathogenic	1 lab	d236b3b486
19:42753649 ERF G>C	19	42753649	42753649	G	C	ERF	c.615C>G	NM_006494.3	NP_006485.2:p.(Arg205=)	NC_000019.9:g.42753649G>C	(Likely) benign	1 lab	d2397a273f
7:31793149 PDE1C C>T	7	31793149	31793149	C	T	PDE1C	c.2159G>A	NM_001191058.3	NP_001177987.2:p.(Arg720His)	NC_000007.13:g.31793149C>T	(Likely) benign	1 lab	d23bc85854
17:12666834 MYOCD C>T	17	12666834	12666834	C	T	MYOCD	c.2834C>T	NM_001146312.2	NP_001139784.1:p.(Pro945Leu)	NC_000017.10:g.12666834C>T	VUS	1 lab	d23bd0f6db
12:53189619 KRT3 C>T	12	53189619	53189619	C	T	KRT3	c.208G>A	NM_057088.2	NP_476429.2:p.(Val70Met)	NC_000012.11:g.53189619C>T	(Likely) benign	1 lab	d23c48d31c
X:69354606 IGBP1 C>T	X	69354606	69354606	C	T	IGBP1	c.422C>T	NM_001551.2	NP_001542.1:p.(Ser141Phe)	NC_000023.10:g.69354606C>T	(Likely) benign	1 lab	d23c8f75c9
20:47782524 STAU1 A>T	20	47782524	47782524	A	T	STAU1	c.205+10T>A	NM_001322929.1	NP_001309858.1:p.?	NC_000020.10:g.47782524A>T	(Likely) benign	1 lab	d23ca79e34
X:17121896 REPS2 A>G	X	17121896	17121896	A	G	REPS2	c.1572A>G	NM_004726.2	NP_004717.2:p.(Pro524=)	NC_000023.10:g.17121896A>G	(Likely) benign	1 lab	d23e65707c
2:200298313 SATB2 A>G	2	200298313	200298313	A	G	SATB2	c.170-76T>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200298313A>G	(Likely) benign	1 lab	d23e7eb8da
X:24828860 POLA1 A>G	X	24828860	24828860	A	G	POLA1	c.3033A>G	NM_001330360.1	NP_001317289.1:p.(Ser1011=)	NC_000023.10:g.24828860A>G	(Likely) benign	1 lab	d24007c555
9:1057113 DMRT2 A>G	9	1057113	1057113	A	G	DMRT2	c.1526A>G	NM_181872.4	NP_870987.2:p.(Lys509Arg)	NC_000009.11:g.1057113A>G	VUS	1 lab	d240a4f550
10:94410169 KIF11 A>G	10	94410169	94410169	A	G	KIF11	c.2934A>G	NM_004523.3	NP_004514.2:p.(Val978=)	NC_000010.10:g.94410169A>G	(Likely) benign	1 lab	d2412c2085
17:37830860 PGAP3 G>A	17	37830860	37830860	G	A	PGAP3	c.495+10C>T	NM_033419.4	NP_219487.3:p.?	NC_000017.10:g.37830860G>A	(Likely) benign	1 lab	d2417b6de6
2:238303314 COL6A3 T>C	2	238303314	238303314	T	C	COL6A3	c.625A>G	NM_004369.3	NP_004360.2:p.(Ile209Val)	NC_000002.11:g.238303314T>C	(Likely) benign	1 lab	d2431ab7cb
11:7631624 PPFIBP2 G>T	11	7631624	7631624	G	T	PPFIBP2	c.589G>T	NM_003621.4	NP_003612.2:p.(Glu197Ter)	NC_000011.9:g.7631624G>T	(Likely) pathogenic	1 lab	d243c902e1
7:100674899 MUC17 G>A	7	100674899	100674899	G	A	MUC17	c.202G>A	NM_001040105.1	NP_001035194.1:p.(Ala68Thr)	NC_000007.13:g.100674899G>A	(Likely) benign	1 lab	d244e76a33
14:74441642 ENTPD5 C>T	14	74441642	74441642	C	T	ENTPD5	c.769G>A	NM_001321988.1	NP_001308917.1:p.(Ala257Thr)	NC_000014.8:g.74441642C>T	VUS	1 lab	d245dd6834
2:74593498 DCTN1 T>C	2	74593498	74593498	T	C	DCTN1	c.2633A>G	NM_004082.4	NP_004073.2:p.(Tyr878Cys)	NC_000002.11:g.74593498T>C	VUS	1 lab	d2473cd48d
3:46718503 ALS2CL G>A	3	46718503	46718503	G	A	ALS2CL	c.1767C>T	NM_001190707.1	NP_001177636.1:p.(Gly589=)	NC_000003.11:g.46718503G>A	(Likely) benign	1 lab	d24cb70f1a
X:129054507 UTP14A C>T	X	129054507	129054507	C	T	UTP14A	c.827C>T	NM_006649.4	NP_006640.2:p.(Pro276Leu)	NC_000023.10:g.129054507C>T	(Likely) benign	1 lab	d24d7d17c8
1:235944235 LYST T>G	1	235944235	235944235	T	G	LYST	c.5144A>C	NM_001301365.1	NP_001288294.1:p.(Glu1715Ala)	NC_000001.10:g.235944235T>G	VUS	1 lab	d24f3da9e3
19:55670989 DNAAF3 G>A	19	55670989	55670989	G	A	DNAAF3	c.1365-14C>T	NM_001256714.1	NP_001243643.1:p.?	NC_000019.9:g.55670989G>A	(Likely) benign	1 lab	d24f95d100
5:89989775 ADGRV1 T>C	5	89989775	89989775	T	C	ADGRV1	c.7202T>C	NM_032119.4	NP_115495.3:p.(Met2401Thr)	NC_000005.9:g.89989775T>C	(Likely) benign	1 lab	d24f9676c2
14:64882117 MTHFD1 A>G	14	64882117	64882117	A	G	MTHFD1	c.282A>G	NM_005956.4	NP_005947.3:p.(Val94=)	NC_000014.8:g.64882117A>G	(Likely) benign	1 lab	d2510d1731
5:68728915 MARVELD2 C>T	5	68728915	68728915	C	T	MARVELD2	c.1498C>T	NM_001038603.2	NP_001033692.2:p.(Arg500Ter)	NC_000005.9:g.68728915C>T	(Likely) pathogenic	1 lab	d252470005
11:67763307 UNC93B1 C>T	11	67763307	67763307	C	T	UNC93B1	c.1138G>A	NM_030930.2	NP_112192.2:p.(Val380Met)	NC_000011.9:g.67763307C>T	(Likely) benign	1 lab	d253778ccf
16:2548339 TBC1D24 G>A	16	2548339	2548339	G	A	TBC1D24	c.1084G>A	NM_001199107.1	NP_001186036.1:p.(Ala362Thr)	NC_000016.9:g.2548339G>A	VUS	1 lab	d25574a703
22:41864647 PHF5A T>C	22	41864647	41864647	T	C	PHF5A	c.11A>G	NM_032758.4	NP_116147.1:p.(His4Arg)	NC_000022.10:g.41864647T>C	VUS	1 lab	d2563b7a88
17:42429748 GRN G>A	17	42429748	42429748	G	A	GRN	c.1453G>A	NM_002087.2	NP_002078.1:p.(Gly485Ser)	NC_000017.10:g.42429748G>A	VUS	1 lab	d25761d53c
X:100871386 ARMCX6 C>G	X	100871386	100871386	C	G	ARMCX6	c.225G>C	NM_001184768.1	NP_001171697.1:p.(Trp75Cys)	NC_000023.10:g.100871386C>G	VUS	1 lab	d25842e856
3:123419069 MYLK T>C	3	123419069	123419069	T	C	MYLK	c.3246A>G	NM_053025.3	NP_444253.3:p.(Ala1082=)	NC_000003.11:g.123419069T>C	(Likely) benign	1 lab	d25853f0f9
19:46268996 SIX5 G>A	19	46268996	46268996	G	A	SIX5	c.1983C>T	NM_175875.4	NP_787071.2:p.(Ala661=)	NC_000019.9:g.46268996G>A	(Likely) benign	1 lab	d2587523ec
11:66461624 SPTBN2 C>A	11	66461624	66461624	C	A	SPTBN2	c.4489G>T	NM_006946.3	NP_008877.1:p.(Val1497Leu)	NC_000011.9:g.66461624C>A	(Likely) benign	1 lab	d25a4577a7
15:90190127 KIF7 A>G	15	90190127	90190127	A	G	KIF7	c.1722T>C	NM_198525.2	NP_940927.2:p.(His574=)	NC_000015.9:g.90190127A>G	(Likely) benign	1 lab	d25b0e7fa9
13:110831256 COL4A1 A>G	13	110831256	110831256	A	G	COL4A1	c.2458+14T>C	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110831256A>G	(Likely) benign	1 lab	d25b4f3ba4
2:128390935 MYO7B T>C	2	128390935	128390935	T	C	MYO7B	c.5430T>C	NM_001080527.1	NP_001073996.1:p.(Ser1810=)	NC_000002.11:g.128390935T>C	(Likely) benign	1 lab	d25d3d6fa8
17:26732443 MISSING A>G	17	26732443	26732443	A	G	MISSING				NC_000017.10:g.26732443A>G	(Likely) benign	1 lab	d25e056ecb
16:72863681 ZFHX3 C>T	16	72863681	72863681	C	T	ZFHX3	c.3526G>A	NM_006885.3	NP_008816.3:p.(Gly1176Arg)	NC_000016.9:g.72863681C>T	VUS	1 lab	d25e40e3f5
6:57058726 RAB23 T>C	6	57058726	57058726	T	C	RAB23	c.488A>G	NM_016277.4	NP_057361.3:p.(Lys163Arg)	NC_000006.11:g.57058726T>C	(Likely) benign	1 lab	d25ea41350
12:133324848 ANKLE2 G>A	12	133324848	133324848	G	A	ANKLE2	c.917C>T	NM_015114.2	NP_055929.1:p.(Thr306Met)	NC_000012.11:g.133324848G>A	VUS	1 lab	d25ff4aa22
17:68128332 KCNJ16 G>A	17	68128332	68128332	G	A	KCNJ16	c.104G>A	NM_001270422.1	NP_001257351.1:p.(Arg35Gln)	NC_000017.10:g.68128332G>A	VUS	1 lab	d26110ce5a
8:124358952 ATAD2 T>C	8	124358952	124358952	T	C	ATAD2	c.2251A>G	NM_014109.4	NP_054828.2:p.(Ser751Gly)	NC_000008.10:g.124358952T>C	(Likely) benign	1 lab	d26204ec90
3:10401702 ATP2B2 T>C	3	10401702	10401702	T	C	ATP2B2	c.1630A>G	NM_001330611.2	NP_001317540.1:p.(Ser544Gly)	NC_000003.11:g.10401702T>C	(Likely) benign	1 lab	d2623cc0e9
16:1035120 SOX8 G>A	16	1035120	1035120	G	A	SOX8	c.1075G>A	NM_014587.4	NP_055402.2:p.(Gly359Ser)	NC_000016.9:g.1035120G>A	VUS	1 lab	d26292d97a
16:70900080 HYDIN T>G	16	70900080	70900080	T	G	HYDIN	c.11463A>C	NM_001270974.2	NP_001257903.1:p.(Arg3821=)	NC_000016.9:g.70900080T>G	(Likely) benign	1 lab	d262f285b8
17:29556484 NF1 G>A	17	29556484	29556484	G	A	NF1	c.2850+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29556484G>A	(Likely) pathogenic	1 lab	d263408cde
X:37701156 DYNLT3 A>G	X	37701156	37701156	A	G	DYNLT3	c.75T>C	NM_006520.2	NP_006511.1:p.(Cys25=)	NC_000023.10:g.37701156A>G	(Likely) benign	1 lab	d263a0cdc0
4:55561694 KIT T>C	4	55561694	55561694	T	C	KIT	c.84T>C	NM_000222.2	NP_000213.1:p.(Ser28=)	NC_000004.11:g.55561694T>C	(Likely) benign	1 lab	d2647a8d4a
16:71604690 TAT G>A	16	71604690	71604690	G	A	TAT	c.804C>T	NM_000353.2	NP_000344.1:p.(Thr268=)	NC_000016.9:g.71604690G>A	(Likely) benign	1 lab	d2653d9160
3:9517516 SETD5 C>T	3	9517516	9517516	C	T	SETD5	c.3776C>T	NM_001349451.1	NP_001336380.1:p.(Thr1259Ile)	NC_000003.11:g.9517516C>T	(Likely) benign	1 lab	d2679c4a1b
15:57524628 TCF12 G>C	15	57524628	57524628	G	C	TCF12	c.825G>C	NM_207037.1	NP_996920.1:p.(Leu275Phe)	NC_000015.9:g.57524628G>C	(Likely) pathogenic	1 lab	d267c8f721
6:82927691 IBTK C>T	6	82927691	82927691	C	T	IBTK	c.1412G>A	NM_015525.3	NP_056340.2:p.(Ser471Asn)	NC_000006.11:g.82927691C>T	(Likely) benign	1 lab	d26a4b4871
7:103243887 RELN G>A	7	103243887	103243887	G	A	RELN	c.3197C>T	NM_173054.2	NP_774959.1:p.(Pro1066Leu)	NC_000007.13:g.103243887G>A	VUS	1 lab	d26a4e3a91
5:64273052 CWC27 G>T	5	64273052	64273052	G	T	CWC27	c.1243G>T	NM_005869.4	NP_005860.2:p.(Asp415Tyr)	NC_000005.9:g.64273052G>T	VUS	1 lab	d26ba077ad
16:56867142 NUP93 C>T	16	56867142	56867142	C	T	NUP93	c.992C>T	NM_001242795.1	NP_001229724.1:p.(Thr331Met)	NC_000016.9:g.56867142C>T	(Likely) benign	1 lab	d26c376ba9
X:1407745 CSF2RA G>A	X	1407745	1407745	G	A	CSF2RA	c.437G>A	NM_001161529.1	NP_001155001.1:p.(Arg146His)	NC_000023.10:g.1407745G>A	(Likely) benign	1 lab	d26c723cfb
11:6651119 DCHS1 A>G	11	6651119	6651119	A	G	DCHS1				NC_000011.9:g.6651119A>G	(Likely) benign	1 lab	d26c7fcc26
19:36218051 KMT2B C>T	19	36218051	36218051	C	T	KMT2B	c.4004-6C>T	NM_014727.2	NP_055542.1:p.?	NC_000019.9:g.36218051C>T	(Likely) benign	1 lab	d26cd7e0f6
1:158325726 CD1E G>T	1	158325726	158325726	G	T	CD1E	c.735G>T	NM_030893.4	NP_112155.2:p.(Met245Ile)	NC_000001.10:g.158325726G>T	(Likely) benign	1 lab	d26db7ed3b
2:84924796 DNAH6 C>T	2	84924796	84924796	C	T	DNAH6	c.7622C>T	NM_001370.1	NP_001361.1:p.(Ala2541Val)	NC_000002.11:g.84924796C>T	VUS	1 lab	d2737067ac
22:29091863 CHEK2 T>C	22	29091863	29091863	T	C	CHEK2	c.1096-2A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091863T>C	(Likely) pathogenic	1 lab	d27519b66e
X:147744282 AFF2 C>A	X	147744282	147744282	C	A	AFF2	c.1034C>A	NM_002025.3	NP_002016.2:p.(Thr345Lys)	NC_000023.10:g.147744282C>A	(Likely) benign	1 lab	d276a02e7e
X:51453765 CENPVL1 G>A	X	51453765	51453765	G	A	CENPVL1	c.158G>A	NM_001355277.1	NP_001342206.1:p.(Arg53Lys)	NC_000023.10:g.51453765G>A	(Likely) benign	1 lab	d27a47daa9
5:37169418 CPLANE1 G>A	5	37169418	37169418	G	A	CPLANE1	c.6708C>T	NM_023073.3	NP_075561.3:p.(Phe2236=)	NC_000005.9:g.37169418G>A	(Likely) benign	1 lab	d27b466e83
9:123782336 C5 G>A	9	123782336	123782336	G	A	C5	c.1442C>T	NM_001317163.1	NP_001304092.1:p.(Ala481Val)	NC_000009.11:g.123782336G>A	(Likely) benign	1 lab	d27b54d5f0
17:35800754 TADA2A C>T	17	35800754	35800754	C	T	TADA2A	c.433C>T	NM_001488.4	NP_001479.4:p.(Pro145Ser)	NC_000017.10:g.35800754C>T	(Likely) benign	1 lab	d27b67fae8
4:187539205 FAT1 C>T	4	187539205	187539205	C	T	FAT1	c.8535G>A	NM_005245.3	NP_005236.2:p.(Met2845Ile)	NC_000004.11:g.187539205C>T	(Likely) benign	1 lab	d27f9d5c26
17:33520642 SLC35G3 C>T	17	33520642	33520642	C	T	SLC35G3	c.685G>A	NM_152462.2	NP_689675.1:p.(Val229Met)	NC_000017.10:g.33520642C>T	VUS	1 lab	d27fc92ca9
16:74752939 FA2H C>T	16	74752939	74752939	C	T	FA2H	c.733G>A	NM_024306.4	NP_077282.3:p.(Asp245Asn)	NC_000016.9:g.74752939C>T	(Likely) benign	1 lab	d27fe0a5c6
19:7605050 PNPLA6 C>T	19	7605050	7605050	C	T	PNPLA6	c.597C>T	NM_001166111.1	NP_001159583.1:p.(Phe199=)	NC_000019.9:g.7605050C>T	(Likely) benign	1 lab	d281c36c23
19:19153620 ARMC6 A>G	19	19153620	19153620	A	G	ARMC6	c.130A>G	NM_001199196.2	NP_001186125.1:p.(Ile44Val)	NC_000019.9:g.19153620A>G	VUS	1 lab	d284a4a85f
6:160484530 IGF2R G>A	6	160484530	160484530	G	A	IGF2R	c.3754G>A	NM_000876.3	NP_000867.2:p.(Ala1252Thr)	NC_000006.11:g.160484530G>A	(Likely) benign	1 lab	d284da321f
17:29483129 NF1 GA>G	17	29483129	29483131	GA	G	NF1	c.191del	NM_001042492.3	NP_001035957.1:p.(Asn64MetfsTer5)	NC_000017.10:g.29483131del	(Likely) pathogenic	1 lab	d28570f245
7:151860796 KMT2C G>A	7	151860796	151860796	G	A	KMT2C	c.9866C>T	NM_170606.2	NP_733751.2:p.(Pro3289Leu)	NC_000007.13:g.151860796G>A	VUS	1 lab	d2857ac45f
6:129609091 LAMA2 T>C	6	129609091	129609091	T	C	LAMA2	c.2637T>C	NM_000426.3	NP_000417.2:p.(Cys879=)	NC_000006.11:g.129609091T>C	(Likely) benign	1 lab	d285c58b95
1:20977011 PINK1 G>A	1	20977011	20977011	G	A	PINK1	c.1573G>A	NM_032409.2	NP_115785.1:p.(Asp525Asn)	NC_000001.10:g.20977011G>A	VUS	1 lab	d286333425
1:15616150 FHAD1 G>A	1	15616150	15616150	G	A	FHAD1	c.556G>A	NM_052929.2	NP_443161.1:p.(Val186Ile)	NC_000001.10:g.15616150G>A	(Likely) benign	1 lab	d28751dcb2
9:101891160 TGFBR1 T>A	9	101891160	101891160	T	A	TGFBR1	c.121T>A	NM_001306210.1	NP_001293139.1:p.(Cys41Ser)	NC_000009.11:g.101891160T>A	VUS	1 lab	d289091ba6
3:43607119 ANO10 G>A	3	43607119	43607119	G	A	ANO10	c.1293+26C>T	NM_018075.4	NP_060545.3:p.?	NC_000003.11:g.43607119G>A	(Likely) benign	1 lab	d28a9b166a
16:15802686 MYH11 TG>T	16	15802686	15802694	TG	T	MYH11	c.5787-4707del	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15802694del	VUS	1 lab	d28af396ba
10:72360608 PRF1 CA>C	10	72360608	72360609	CA	C	PRF1	c.50del	NM_001083116.3	NP_001076585.1:p.(Leu17ArgfsTer34)	NC_000010.10:g.72360609del	(Likely) pathogenic	1 lab	d28afaf1fa
1:52289399 NRDC A>T	1	52289399	52289399	A	T	NRDC	c.1300T>A	NM_002525.2	NP_002516.2:p.(Leu434Met)	NC_000001.10:g.52289399A>T	VUS	1 lab	d28b33699b
11:65983589 PACS1 G>C	11	65983589	65983589	G	C	PACS1	c.661-1G>C	NM_018026.3	NP_060496.2:p.?	NC_000011.9:g.65983589G>C	VUS	1 lab	d28b56e918
17:1637054 WDR81 C>T	17	1637054	1637054	C	T	WDR81	c.4723C>T	NM_001163809.1	NP_001157281.1:p.(Arg1575Trp)	NC_000017.10:g.1637054C>T	VUS	1 lab	d28c387f12
5:153826259 SAP30L T>C	5	153826259	153826259	T	C	SAP30L	c.95T>C	NM_024632.6	NP_078908.1:p.(Ile32Thr)	NC_000005.9:g.153826259T>C	VUS	1 lab	d28fadfe74
6:33170803 SLC39A7 A>G	6	33170803	33170803	A	G	SLC39A7	c.1057A>G	NM_006979.3	NP_008910.2:p.(Met353Val)	NC_000006.11:g.33170803A>G	(Likely) benign	1 lab	d2917776aa
15:23889762 MAGEL2 C>T	15	23889762	23889762	C	T	MAGEL2	c.3128G>A	NM_019066.4	NP_061939.3:p.(Arg1043His)	NC_000015.9:g.23889762C>T	VUS	1 lab	d291f17359
19:7441568 ARHGEF18 G>A	19	7441568	7441568	G	A	ARHGEF18	c.466G>A	NM_001367823.1	NP_001354752.1:p.(Val156Ile)	NC_000019.9:g.7441568G>A	VUS	1 lab	d292293aca
2:172336706 DCAF17 G>A	2	172336706	172336706	G	A	DCAF17	c.1422+3G>A	NM_025000.3	NP_079276.2:p.?	NC_000002.11:g.172336706G>A	(Likely) benign	1 lab	d2923280fe
14:77767442 POMT2 A>C	14	77767442	77767442	A	C	POMT2	c.807T>G	NM_013382.5	NP_037514.2:p.(Ser269Arg)	NC_000014.8:g.77767442A>C	VUS	1 lab	d294e5d959
11:108106635 ATM G>A	11	108106635	108106635	G	A	ATM	c.496+74G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108106635G>A	(Likely) benign	1 lab	f5feb76adc
11:117860248 IL10RA A>G	11	117860248	117860248	A	G	IL10RA	c.280A>G	NM_001558.3	NP_001549.2:p.(Asn94Asp)	NC_000011.9:g.117860248A>G	(Likely) benign	1 lab	d295ffced3
8:145738257 RECQL4 C>T	8	145738257	145738257	C	T	RECQL4	c.2728G>A	NM_004260.3	NP_004251.3:p.(Val910Ile)	NC_000008.10:g.145738257C>T	VUS	1 lab	d29819e48a
4:110223167 COL25A1 C>G	4	110223167	110223167	C	G	COL25A1	c.9G>C	NM_198721.3	NP_942014.1:p.(Leu3=)	NC_000004.11:g.110223167C>G	(Likely) benign	1 lab	d299013f56
15:89876830 POLG C>T	15	89876830	89876830	C	T	POLG	c.156G>A	NM_002693.2	NP_002684.1:p.(Gln52=)	NC_000015.9:g.89876830C>T	(Likely) benign	1 lab	d29b60c3d3
1:1459221 ATAD3A C>T	1	1459221	1459221	C	T	ATAD3A	c.1110C>T	NM_018188.4	NP_060658.3:p.(Pro370=)	NC_000001.10:g.1459221C>T	(Likely) benign	1 lab	d2a4ff72b6
16:89349371 ANKRD11 C>T	16	89349371	89349371	C	T	ANKRD11	c.3579G>A	NM_001256182.1	NP_001243111.1:p.(Ala1193=)	NC_000016.9:g.89349371C>T	(Likely) benign	1 lab	d29e909f34
X:57936114 ZXDA G>T	X	57936114	57936114	G	T	ZXDA	c.741C>A	NM_007156.4	NP_009087.1:p.(Gly247=)	NC_000023.10:g.57936114G>T	(Likely) benign	1 lab	d29fa55b45
12:49430996 KMT2D G>T	12	49430996	49430996	G	T	KMT2D	c.10143C>A	NM_003482.3	NP_003473.3:p.(Pro3381=)	NC_000012.11:g.49430996G>T	(Likely) benign	1 lab	d2a038c4f5
X:118985727 UPF3B TA>T	X	118985727	118985728	TA	T	UPF3B	c.263+2del	NM_080632.3	NP_542199.1:p.?	NC_000023.10:g.118985728del	(Likely) benign	1 lab	d2a186c053
1:172544716 SUCO G>A	1	172544716	172544716	G	A	SUCO	c.1690G>A	NM_016227.3	NP_057311.3:p.(Val564Ile)	NC_000001.10:g.172544716G>A	(Likely) benign	1 lab	d2a186e518
6:129725074 LAMA2 C>G	6	129725074	129725074	C	G	LAMA2	c.5835C>G	NM_000426.3	NP_000417.2:p.(Ala1945=)	NC_000006.11:g.129725074C>G	(Likely) benign	1 lab	d2a1eff46b
2:32842896 BIRC6 T>G	2	32842896	32842896	T	G	BIRC6	c.14499T>G	NM_016252.3	NP_057336.3:p.(Gly4833=)	NC_000002.11:g.32842896T>G	(Likely) benign	1 lab	d2a2d1576e
X:108696821 GUCY2F C>T	X	108696821	108696821	C	T	GUCY2F	c.1300G>A	NM_001522.2	NP_001513.2:p.(Gly434Arg)	NC_000023.10:g.108696821C>T	(Likely) benign	1 lab	d2a3c98764
12:57976959 KIF5A C>T	12	57976959	57976959	C	T	KIF5A	c.3096C>T	NM_004984.3	NP_004975.2:p.(Ser1032=)	NC_000012.11:g.57976959C>T	(Likely) benign	1 lab	d2a3d4703e
7:76163021 SPDYE16 C>T	7	76163021	76163021	C	T	SPDYE16	c.929G>A	NM_001351597.1	NP_001338526.1:p.(Arg310His)	NC_000007.13:g.76163021C>T	(Likely) benign	1 lab	d2a3e38c10
20:3870073 PANK2 C>T	20	3870073	3870073	C	T	PANK2	c.326C>T	NM_153638.2	NP_705902.2:p.(Pro109Leu)	NC_000020.10:g.3870073C>T	(Likely) benign	1 lab	d2a3f94016
13:23907235 SACS T>A	13	23907235	23907235	T	A	SACS	c.10780A>T	NM_014363.5	NP_055178.3:p.(Ile3594Leu)	NC_000013.10:g.23907235T>A	(Likely) benign	1 lab	d2a438f5fc
18:44173602 LOXHD1 G>T	18	44173602	44173602	G	T	LOXHD1	c.1392C>A	NM_144612.6	NP_653213.6:p.(Asn464Lys)	NC_000018.9:g.44173602G>T	VUS	1 lab	d2a5c42f1d
16:58051246 USB1 T>C	16	58051246	58051246	T	C	USB1	c.512T>C	NM_024598.3	NP_078874.2:p.(Ile171Thr)	NC_000016.9:g.58051246T>C	VUS	1 lab	d2a756ff8c
17:18925246 GRAP G>T	17	18925246	18925246	G	T	GRAP	c.511C>A	NM_001330148.1	NP_001317077.1:p.(Arg171=)	NC_000017.10:g.18925246G>T	(Likely) benign	1 lab	d2acaa4026
10:73569585 CDH23 G>A	10	73569585	73569585	G	A	CDH23	c.8731G>A	NM_022124.5	NP_071407.4:p.(Asp2911Asn)	NC_000010.10:g.73569585G>A	VUS	1 lab	d2ae5120a0
3:155198901 PLCH1 G>C	3	155198901	155198901	G	C	PLCH1	c.4938C>G	NM_001130960.1	NP_001124432.1:p.(Gly1646=)	NC_000003.11:g.155198901G>C	(Likely) benign	1 lab	d2b070b6e7
8:48855884 PRKDC G>A	8	48855884	48855884	G	A	PRKDC	c.851C>T	NM_006904.6	NP_008835.5:p.(Thr284Ile)	NC_000008.10:g.48855884G>A	(Likely) benign	1 lab	d2b23c80a6
5:74016484 HEXB G>A	5	74016484	74016484	G	A	HEXB	c.850G>A	NM_001292004.1	NP_001278933.1:p.(Val284Ile)	NC_000005.9:g.74016484G>A	VUS	1 lab	d2b3b8e790
8:10470615 RP1L1 C>A	8	10470615	10470615	C	A	RP1L1	c.993G>T	NM_178857.5	NP_849188.4:p.(Leu331=)	NC_000008.10:g.10470615C>A	(Likely) benign	1 lab	d2b5517987
X:70823611 GCNA A>G	X	70823611	70823611	A	G	GCNA	c.484A>G	NM_052957.4	NP_443189.1:p.(Asn162Asp)	NC_000023.10:g.70823611A>G	(Likely) benign	1 lab	d2b74a0894
X:91873694 PCDH11X C>G	X	91873694	91873694	C	G	PCDH11X	c.3799C>G	NM_032968.4	NP_116750.1:p.(Leu1267Val)	NC_000023.10:g.91873694C>G	VUS	1 lab	d2b7a3b565
21:46915327 COL18A1 G>A	21	46915327	46915327	G	A	COL18A1	c.2489G>A	NM_130445.2	NP_569712.2:p.(Ser830Asn)	NC_000021.8:g.46915327G>A	(Likely) benign	1 lab	d2b8711204
X:77258581 ATP7A A>G	X	77258581	77258581	A	G	ATP7A	c.1555A>G	NM_000052.6	NP_000043.4:p.(Ile519Val)	NC_000023.10:g.77258581A>G	(Likely) benign	1 lab	d2b99a7785
1:17332249 ATP13A2 G>A	1	17332249	17332249	G	A	ATP13A2	c.35C>T	NM_001141973.2	NP_001135445.1:p.(Thr12Met)	NC_000001.10:g.17332249G>A	VUS	1 lab	d2ba9815f6
21:34860959 DNAJC28 T>TG	21	34860959	34860960	T	TG	DNAJC28	c.741_742insC	NM_017833.4	NP_060303.2:p.(Ile248HisfsTer3)	NC_000021.8:g.34860959_34860960insG	VUS	1 lab	d2bb35486c
14:78021769 SPTLC2 G>A	14	78021769	78021769	G	A	SPTLC2	c.1050C>T	NM_004863.3	NP_004854.1:p.(Gly350=)	NC_000014.8:g.78021769G>A	(Likely) benign	1 lab	d2bb62540e
16:66511470 BEAN1 C>T	16	66511470	66511470	C	T	BEAN1	c.297C>T	NM_001178020.2	NP_001171491.1:p.(Asp99=)	NC_000016.9:g.66511470C>T	(Likely) benign	1 lab	d2bea03258
2:233322701 ALPI C>T	2	233322701	233322701	C	T	ALPI	c.857-7C>T	NM_001631.5	NP_001622.2:p.?	NC_000002.11:g.233322701C>T	(Likely) benign	1 lab	d2bf161976
21:47863742 PCNT G>A	21	47863742	47863742	G	A	PCNT	c.9720G>A	NM_006031.5	NP_006022.3:p.(Pro3240=)	NC_000021.8:g.47863742G>A	(Likely) benign	1 lab	d2c023dc3a
16:1575901 IFT140 G>C	16	1575901	1575901	G	C	IFT140	c.2755C>G	NM_014714.3	NP_055529.2:p.(Arg919Gly)	NC_000016.9:g.1575901G>C	(Likely) benign	1 lab	d2c0ab8897
22:51169496 MISSING C>T	22	51169496	51169496	C	T	MISSING				NC_000022.10:g.51169496C>T	(Likely) benign	1 lab	d2c27d7c3a
4:106158560 TET2 A>G	4	106158560	106158560	A	G	TET2	c.3461A>G	NM_017628.4	NP_060098.3:p.(Asn1154Ser)	NC_000004.11:g.106158560A>G	(Likely) benign	1 lab	d2c296563f
X:78427473 GPR174 T>C	X	78427473	78427473	T	C	GPR174	c.969T>C	NM_032553.2	NP_115942.1:p.(His323=)	NC_000023.10:g.78427473T>C	(Likely) benign	1 lab	d2c32a30a4
7:5792489 RNF216 G>A	7	5792489	5792489	G	A	RNF216	c.189C>T	NM_207111.3	NP_996994.1:p.(Val63=)	NC_000007.13:g.5792489G>A	(Likely) benign	1 lab	d2c34c8685
2:99013535 CNGA3 G>T	2	99013535	99013535	G	T	CNGA3	c.1902G>T	NM_001298.2	NP_001289.1:p.(Gly634=)	NC_000002.11:g.99013535G>T	(Likely) benign	1 lab	d2c4498590
14:104167058 KLC1 C>T	14	104167058	104167058	C	T	KLC1	c.1717C>T	NM_182923.3	NP_891553.2:p.(Arg573Cys)	NC_000014.8:g.104167058C>T	VUS	1 lab	d2c4adf28d
17:31258648 TMEM98 G>A	17	31258648	31258648	G	A	TMEM98	c.102G>A	NM_001301746.1	NP_001288675.1:p.(Pro34=)	NC_000017.10:g.31258648G>A	(Likely) benign	1 lab	d2c689dc38
9:117849550 TNC G>A	9	117849550	117849550	G	A	TNC	c.460C>T	NM_002160.3	NP_002151.2:p.(Arg154Cys)	NC_000009.11:g.117849550G>A	VUS	1 lab	d2c69db82c
X:54567769 GNL3L A>G	X	54567769	54567769	A	G	GNL3L	c.253A>G	NM_001184819.2	NP_001171748.1:p.(Ile85Val)	NC_000023.10:g.54567769A>G	(Likely) benign	1 lab	d2c963981a
X:69508362 PDZD11 C>T	X	69508362	69508362	C	T	PDZD11	c.89G>A	NM_016484.4	NP_057568.1:p.(Arg30Lys)	NC_000023.10:g.69508362C>T	VUS	1 lab	d2c9c22620
13:32910432 BRCA2 G>A	13	32910432	32910432	G	A	BRCA2	c.1940G>A	NM_000059.3	NP_000050.2:p.(Cys647Tyr)	NC_000013.10:g.32910432G>A	(Likely) benign	1 lab	d2cddf1d43
4:187628301 FAT1 T>C	4	187628301	187628301	T	C	FAT1	c.2681A>G	NM_005245.3	NP_005236.2:p.(Lys894Arg)	NC_000004.11:g.187628301T>C	VUS	1 lab	d2d03a2c0d
15:70350555 TLE3 T>C	15	70350555	70350555	T	C	TLE3	c.994A>G	NM_005078.3	NP_005069.2:p.(Ser332Gly)	NC_000015.9:g.70350555T>C	VUS	1 lab	d2d13d8ff3
4:96075833 BMPR1B G>C	4	96075833	96075833	G	C	BMPR1B	c.*9G>C	NM_001203.2	NP_001194.1:p.?	NC_000004.11:g.96075833G>C	VUS	1 lab	d2d1d2d2e7
1:216052345 USH2A G>A	1	216052345	216052345	G	A	USH2A	c.8319C>T	NM_206933.2	NP_996816.2:p.(Ser2773=)	NC_000001.10:g.216052345G>A	(Likely) benign	1 lab	d2d2636d51
X:108619159 GUCY2F G>A	X	108619159	108619159	G	A	GUCY2F	c.3296C>T	NM_001522.2	NP_001513.2:p.(Ala1099Val)	NC_000023.10:g.108619159G>A	(Likely) benign	1 lab	d2d3036cb7
17:42988811 GFAP T>G	17	42988811	42988811	T	G	GFAP	c.920A>C	NM_002055.4	NP_002046.1:p.(Glu307Ala)	NC_000017.10:g.42988811T>G	VUS	1 lab	d2d40d5004
11:118529689 TREH C>T	11	118529689	118529689	C	T	TREH	c.1470G>A	NM_007180.2	NP_009111.2:p.(Val490=)	NC_000011.9:g.118529689C>T	(Likely) benign	1 lab	d2d44ec078
5:41159248 C6 C>G	5	41159248	41159248	C	G	C6	c.1792G>C	NM_001115131.2	NP_001108603.2:p.(Gly598Arg)	NC_000005.9:g.41159248C>G	VUS	1 lab	d2d4b51559
12:7053817 C12orf57 T>TGGGTCAGACGCGGGAAGGC	12	7053817	7053858	T	TGGGTCAGACGCGGGAAGGC	C12orf57	c.124+25_124+43dup	NM_001301838.1	NP_001288767.1:p.?	NC_000012.11:g.7053840_7053858dup	(Likely) benign	1 lab	d2d56f78a9
12:88486616 CEP290 A>C	12	88486616	88486616	A	C	CEP290	c.3310-7T>G	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88486616A>C	VUS	1 lab	d2d57121ae
1:114380280 PTPN22 T>C	1	114380280	114380280	T	C	PTPN22	c.1742A>G	NM_015967.6	NP_057051.3:p.(His581Arg)	NC_000001.10:g.114380280T>C	(Likely) benign	1 lab	d2d5ace90c
20:34778245 EPB41L1 G>A	20	34778245	34778245	G	A	EPB41L1	c.1073G>A	NM_001258329.1	NP_001245258.1:p.(Arg358Gln)	NC_000020.10:g.34778245G>A	VUS	1 lab	d2d606cb10
17:29587508 NF1 AT>A	17	29587508	29587510	AT	A	NF1	c.4554del	NM_001042492.3	NP_001035957.1:p.(Ile1518MetfsTer56)	NC_000017.10:g.29587510del	(Likely) pathogenic	1 lab	d2d63178ae
4:151773173 LRBA C>T	4	151773173	151773173	C	T	LRBA	c.3689G>A	NM_001199282.2	NP_001186211.2:p.(Gly1230Asp)	NC_000004.11:g.151773173C>T	(Likely) benign	1 lab	d2d7a80f41
1:152192364 HRNR A>C	1	152192364	152192364	A	C	HRNR	c.1741T>G	NM_001009931.2	NP_001009931.1:p.(Ser581Ala)	NC_000001.10:g.152192364A>C	(Likely) benign	1 lab	d2d8788032
5:150885412 FAT2 C>T	5	150885412	150885412	C	T	FAT2	c.12764G>A	NM_001447.2	NP_001438.1:p.(Arg4255Gln)	NC_000005.9:g.150885412C>T	(Likely) benign	1 lab	d2da835508
10:85973973 CDHR1 C>T	10	85973973	85973973	C	T	CDHR1	c.2176C>T	NM_033100.4	NP_149091.1:p.(Arg726Cys)	NC_000010.10:g.85973973C>T	VUS	1 lab	d2daa8ea2f
X:72899190 CHIC1 A>G	X	72899190	72899190	A	G	CHIC1	c.537A>G	NM_001039840.3	NP_001034929.2:p.(Glu179=)	NC_000023.10:g.72899190A>G	(Likely) benign	1 lab	d2dbe72ad8
3:52553301 STAB1 T>G	3	52553301	52553301	T	G	STAB1	c.5056T>G	NM_015136.3	NP_055951.2:p.(Phe1686Val)	NC_000003.11:g.52553301T>G	VUS	1 lab	d2de5e5222
3:170216500 SLC7A14 T>G	3	170216500	170216500	T	G	SLC7A14	c.715A>C	NM_020949.2	NP_066000.2:p.(Lys239Gln)	NC_000003.11:g.170216500T>G	VUS	1 lab	d2deb46f4b
10:104161594 NFKB2 G>C	10	104161594	104161594	G	C	NFKB2	c.2386G>C	NM_001288724.1	NP_001275653.1:p.(Glu796Gln)	NC_000010.10:g.104161594G>C	VUS	1 lab	d2defafcd3
15:72103909 NR2E3 G>A	15	72103909	72103909	G	A	NR2E3	c.205G>A	NM_016346.3	NP_057430.1:p.(Gly69Ser)	NC_000015.9:g.72103909G>A	VUS	1 lab	d2df11f7f7
11:118344665 KMT2A A>G	11	118344665	118344665	A	G	KMT2A	c.2791A>G	NM_001197104.1	NP_001184033.1:p.(Thr931Ala)	NC_000011.9:g.118344665A>G	(Likely) benign	1 lab	d2e37a720b
7:128445477 CCDC136 CA>C	7	128445477	128445478	CA	C	CCDC136	c.848del	NM_022742.5	NP_073579.5:p.(Gln283ArgfsTer8)	NC_000007.13:g.128445478del	VUS	1 lab	d2e402e7c4
17:79478314 ACTG1 AGAG>A	17	79478314	79478322	AGAG	A	ACTG1	c.699_701del	NM_001614.5	NP_001605.1:p.(Ser235del)	NC_000017.10:g.79478320_79478322del	VUS	1 lab	d2e561b848
7:74203036 NCF1 G>A	7	74203036	74203036	G	A	NCF1	c.1039G>A	NM_000265.5	NP_000256.4:p.(Gly347Arg)	NC_000007.13:g.74203036G>A	VUS	1 lab	d2e848ba27
6:56480981 DST T>C	6	56480981	56480981	T	C	DST	c.7284A>G	NM_001723.5	NP_001714.1:p.(Thr2428=)	NC_000006.11:g.56480981T>C	(Likely) benign	1 lab	d2e84c76d0
17:29325772 RNF135 C>G	17	29325772	29325772	C	G	RNF135	c.862C>G	NM_032322.3	NP_115698.3:p.(Gln288Glu)	NC_000017.10:g.29325772C>G	VUS	1 lab	d2ea004b19
X:112022773 AMOT G>A	X	112022773	112022773	G	A	AMOT	c.2609C>T	NM_001113490.1	NP_001106962.1:p.(Thr870Met)	NC_000023.10:g.112022773G>A	(Likely) benign	1 lab	d2ea260989
X:22132630 PHEX A>G	X	22132630	22132630	A	G	PHEX	c.1228A>G	NM_000444.5	NP_000435.3:p.(Ile410Val)	NC_000023.10:g.22132630A>G	(Likely) benign	1 lab	d2ec4f8365
17:42478294 GPATCH8 T>C	17	42478294	42478294	T	C	GPATCH8	c.917A>G	NM_001304940.1	NP_001291869.1:p.(Glu306Gly)	NC_000017.10:g.42478294T>C	VUS	1 lab	d2ed25d5ac
1:1268367 TAS1R3 G>A	1	1268367	1268367	G	A	TAS1R3	c.1342G>A	NM_152228.3	NP_689414.2:p.(Gly448Arg)	NC_000001.10:g.1268367G>A	VUS	1 lab	d2ed51a0a9
10:72358662 PRF1 ATGC>A	10	72358662	72358668	ATGC	A	PRF1	c.812_814del	NM_001083116.3	NP_001076585.1:p.(Ser271del)	NC_000010.10:g.72358666_72358668del	VUS	1 lab	d2f101012c
16:85695000 GSE1 G>A	16	85695000	85695000	G	A	GSE1	c.1889G>A	NM_014615.4	NP_055430.1:p.(Cys630Tyr)	NC_000016.9:g.85695000G>A	VUS	1 lab	d2f197ded3
7:75613149 POR C>T	7	75613149	75613149	C	T	POR	c.1041C>T	NM_000941.2	NP_000932.3:p.(Val347=)	NC_000007.13:g.75613149C>T	(Likely) benign	1 lab	d2f1ebf21a
12:48389674 COL2A1 C>T	12	48389674	48389674	C	T	COL2A1	c.638G>A	NM_001844.4	NP_001835.3:p.(Gly213Asp)	NC_000012.11:g.48389674C>T	(Likely) pathogenic	1 lab	d2f24c9246
14:105419404 AHNAK2 G>A	14	105419404	105419404	G	A	AHNAK2	c.2384C>T	NM_138420.3	NP_612429.2:p.(Ser795Phe)	NC_000014.8:g.105419404G>A	VUS	1 lab	d2f29fc648
8:21982912 HR G>A	8	21982912	21982912	G	A	HR	c.1662C>T	NM_005144.4	NP_005135.2:p.(Leu554=)	NC_000008.10:g.21982912G>A	(Likely) benign	1 lab	d2f5e692ca
9:114449066 SHOC1 C>T	9	114449066	114449066	C	T	SHOC1	c.4319G>A	NM_173521.4	NP_775792.4:p.(Arg1440Gln)	NC_000009.11:g.114449066C>T	VUS	1 lab	d2f751015d
2:109103009 GCC2 G>A	2	109103009	109103009	G	A	GCC2	c.3835G>A	NM_181453.3	NP_852118.1:p.(Glu1279Lys)	NC_000002.11:g.109103009G>A	VUS	1 lab	d2f76990ec
7:100637012 MUC12 T>A	7	100637012	100637012	T	A	MUC12	c.3168T>A	NM_001164462.1	NP_001157934.1:p.(Ser1056Arg)	NC_000007.13:g.100637012T>A	(Likely) benign	1 lab	d2f82ba787
3:25216014 RARB T>C	3	25216014	25216014	T	C	RARB	c.126T>C	NM_001290216.2	NP_001277145.1:p.(His42=)	NC_000003.11:g.25216014T>C	(Likely) benign	1 lab	d2f8d244cc
5:150945575 FAT2 C>A	5	150945575	150945575	C	A	FAT2	c.2918G>T	NM_001447.2	NP_001438.1:p.(Arg973Leu)	NC_000005.9:g.150945575C>A	(Likely) benign	1 lab	d2faa8156b
16:2130202 TSC2 C>T	16	2130202	2130202	C	T	TSC2	c.3434C>T	NM_000548.3	NP_000539.2:p.(Pro1145Leu)	NC_000016.9:g.2130202C>T	(Likely) benign	1 lab	d2ff5aab06
1:22214472 HSPG2 C>T	1	22214472	22214472	C	T	HSPG2	c.662G>A	NM_001291860.1	NP_001278789.1:p.(Arg221Gln)	NC_000001.10:g.22214472C>T	(Likely) benign	1 lab	d3004107d3
2:129026090 HS6ST1 G>A	2	129026090	129026090	G	A	HS6ST1	c.882C>T	NM_004807.2	NP_004798.3:p.(Thr294=)	NC_000002.11:g.129026090G>A	(Likely) benign	1 lab	d301810ec1
19:55450444 NLRP7 C>T	19	55450444	55450444	C	T	NLRP7	c.1743G>A	NM_001127255.1	NP_001120727.1:p.(Glu581=)	NC_000019.9:g.55450444C>T	(Likely) benign	1 lab	d3020b8358
10:70748931 KIFBP G>A	10	70748931	70748931	G	A	KIFBP	c.343G>A	NM_015634.3	NP_056449.1:p.(Glu115Lys)	NC_000010.10:g.70748931G>A	VUS	1 lab	d3037b696e
X:41012316 USP9X A>T	X	41012316	41012316	A	T	USP9X	c.1879A>T	NM_001039590.2	NP_001034679.2:p.(Met627Leu)	NC_000023.10:g.41012316A>T	(Likely) benign	1 lab	d30416fee5
5:147499874 SPINK5 GA>G	5	147499874	147499884	GA	G	SPINK5	c.2468del	NM_006846.4	NP_006837.2:p.(Lys823ArgfsTer101)	NC_000005.9:g.147499884del	VUS	1 lab	d30ae5efc4
1:11273465 MTOR G>A	1	11273465	11273465	G	A	MTOR	c.3276C>T	NM_004958.3	NP_004949.1:p.(Val1092=)	NC_000001.10:g.11273465G>A	(Likely) benign	1 lab	d30bf66eea
19:36595930 WDR62 A>C	19	36595930	36595930	A	C	WDR62	c.4572A>C	NM_001083961.1	NP_001077430.1:p.(Ter1524CysextTer15)	NC_000019.9:g.36595930A>C	VUS	1 lab	d30c5cb408
6:56510947 DST T>C	6	56510947	56510947	T	C	DST	c.1489A>G	NM_001144769.2	NP_001138241.1:p.(Thr497Ala)	NC_000006.11:g.56510947T>C	(Likely) benign	1 lab	d30cfde3d6
16:2100400 TSC2 G>T	16	2100400	2100400	G	T	TSC2	c.139-1G>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2100400G>T	(Likely) pathogenic	1 lab	d30d1205fa
2:179437140 TTN G>T	2	179437140	179437140	G	T	TTN	c.73719C>A	NM_001267550.1	NP_001254479.1:p.(Cys24573Ter)	NC_000002.11:g.179437140G>T	(Likely) pathogenic	1 lab	d30dbe546c
12:40677699 LRRK2 C>T	12	40677699	40677699	C	T	LRRK2	c.2264C>T	NM_198578.3	NP_940980.3:p.(Pro755Leu)	NC_000012.11:g.40677699C>T	(Likely) benign	1 lab	d30ed01c0a
7:97833424 LMTK2 G>A	7	97833424	97833424	G	A	LMTK2	c.4409G>A	NM_014916.3	NP_055731.2:p.(Arg1470Gln)	NC_000007.13:g.97833424G>A	VUS	1 lab	d3102652e5
X:53230747 KDM5C C>T	X	53230747	53230747	C	T	KDM5C	c.2046G>A	NM_004187.3	NP_004178.2:p.(Lys682=)	NC_000023.10:g.53230747C>T	(Likely) benign	1 lab	d312e0b2bc
16:49671762 ZNF423 G>A	16	49671762	49671762	G	A	ZNF423	c.1121C>T	NM_001271620.2	NP_001258549.1:p.(Ala374Val)	NC_000016.9:g.49671762G>A	(Likely) benign	1 lab	d316a619f4
3:15123864 RBSN C>T	3	15123864	15123864	C	T	RBSN	c.840+10G>A	NM_022340.3	NP_071735.2:p.?	NC_000003.11:g.15123864C>T	(Likely) benign	1 lab	d316b64058
10:50678777 ERCC6 C>G	10	50678777	50678777	C	G	ERCC6	c.3229G>C	NM_000124.2	NP_000115.1:p.(Gly1077Arg)	NC_000010.10:g.50678777C>G	(Likely) benign	1 lab	d316bcf33d
2:49216155 FSHR C>T	2	49216155	49216155	C	T	FSHR	c.485G>A	NM_000145.3	NP_000136.2:p.(Arg162Lys)	NC_000002.11:g.49216155C>T	(Likely) benign	1 lab	d3172d7694
21:46899813 COL18A1 C>T	21	46899813	46899813	C	T	COL18A1	c.1249-3C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46899813C>T	(Likely) benign	1 lab	d317a706e0
1:27107135 ARID1A C>CA	1	27107135	27107136	C	CA	ARID1A	c.6747dup	NM_006015.4	NP_006006.3:p.(Glu2250ArgfsTer28)	NC_000001.10:g.27107136dup	(Likely) pathogenic	1 lab	d317b1a4a5
6:36343662 ETV7 C>T	6	36343662	36343662	C	T	ETV7	c.293G>A	NM_016135.4	NP_057219.1:p.(Arg98His)	NC_000006.11:g.36343662C>T	(Likely) benign	1 lab	d317cc6389
19:17397456 ANKLE1 GGT>G	19	17397456	17397500	GGT	G	ANKLE1	c.*138_*139del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397499_17397500del	(Likely) benign	1 lab	d317f0bb6b
X:129299623 AIFM1 C>T	X	129299623	129299623	C	T	AIFM1	c.8G>A	NM_001130847.3	NP_001124319.1:p.(Arg3Gln)	NC_000023.10:g.129299623C>T	VUS	1 lab	d317ff4d7a
X:153296267 MECP2 T>C	X	153296267	153296267	T	C	MECP2	c.1012A>G	NM_004992.3	NP_004983.1:p.(Thr338Ala)	NC_000023.10:g.153296267T>C	VUS	1 lab	d318902e60
X:44928873 KDM6A G>A	X	44928873	44928873	G	A	KDM6A	c.2129G>A	NM_001291415.1	NP_001278344.1:p.(Arg710Gln)	NC_000023.10:g.44928873G>A	(Likely) benign	1 lab	d318ac4bce
6:44269844 AARS2 G>C	6	44269844	44269844	G	C	AARS2	c.2551C>G	NM_020745.3	NP_065796.1:p.(Leu851Val)	NC_000006.11:g.44269844G>C	VUS	1 lab	d319753d5b
2:220078606 ABCB6 A>G	2	220078606	220078606	A	G	ABCB6	c.1520T>C	NM_005689.2	NP_005680.1:p.(Leu507Pro)	NC_000002.11:g.220078606A>G	VUS	1 lab	d31ab514ee
11:44286566 ALX4 G>A	11	44286566	44286566	G	A	ALX4	c.1074C>T	NM_021926.4	NP_068745.2:p.(His358=)	NC_000011.9:g.44286566G>A	(Likely) benign	1 lab	d31dd45847
X:135067737 SLC9A6 C>G	X	135067737	135067737	C	G	SLC9A6	c.76C>G	NM_001042537.1	NP_001036002.1:p.(Arg26Gly)	NC_000023.10:g.135067737C>G	VUS	1 lab	d31f3c54c2
2:210682547 UNC80 C>T	2	210682547	210682547	C	T	UNC80	c.1564C>T	NM_032504.1	NP_115893.1:p.(Arg522Trp)	NC_000002.11:g.210682547C>T	VUS	1 lab	d31f913c59
X:76812930 ATRX G>A	X	76812930	76812930	G	A	ATRX	c.6691C>T	NM_000489.5	NP_000480.3:p.(Leu2231=)	NC_000023.10:g.76812930G>A	(Likely) benign	1 lab	d3211011fa
4:70455265 UGT2A1 C>T	4	70455265	70455265	C	T	UGT2A1	c.1907G>A	NM_001252274.2	NP_001239203.2:p.(Gly636Glu)	NC_000004.11:g.70455265C>T	VUS	1 lab	d321a33716
2:26684618 OTOF G>T	2	26684618	26684618	G	T	OTOF	c.5479C>A	NM_194248.2	NP_919224.1:p.(Arg1827=)	NC_000002.11:g.26684618G>T	(Likely) benign	1 lab	d321e383cb
11:66454951 SPTBN2 C>T	11	66454951	66454951	C	T	SPTBN2	c.6669G>A	NM_006946.3	NP_008877.1:p.(Gly2223=)	NC_000011.9:g.66454951C>T	(Likely) benign	1 lab	d322a22722
11:108043011 NPAT T>C	11	108043011	108043011	T	C	NPAT	c.2700A>G	NM_001321307.1	NP_001308236.1:p.(Gln900=)	NC_000011.9:g.108043011T>C	(Likely) benign	1 lab	d322aaf109
20:62323162 RTEL1 G>A	20	62323162	62323162	G	A	RTEL1	c.2624G>A	NM_001283009.1	NP_001269938.1:p.(Arg875Lys)	NC_000020.10:g.62323162G>A	(Likely) benign	1 lab	d3277be097
11:8117126 TUB A>T	11	8117126	8117126	A	T	TUB	c.644A>T	NM_003320.4	NP_003311.2:p.(Asp215Val)	NC_000011.9:g.8117126A>T	(Likely) benign	1 lab	d327e96d51
1:156100236 LMNA G>GC	1	156100236	156100237	G	GC	LMNA	c.357-172_357-171insC	NM_170707.2	NP_733821.1:p.?	NC_000001.10:g.156100236_156100237insC	(Likely) benign	1 lab	d3295e1d8e
2:47693886 MSH2 C>T	2	47693886	47693886	C	T	MSH2	c.1600C>T	NM_000251.2	NP_000242.1:p.(Arg534Cys)	NC_000002.11:g.47693886C>T	VUS	1 lab	d32a12e0cb
3:184070241 CLCN2 A>G	3	184070241	184070241	A	G	CLCN2	c.2261T>C	NM_004366.5	NP_004357.3:p.(Ile754Thr)	NC_000003.11:g.184070241A>G	VUS	1 lab	d32b120f42
6:56458983 DST G>A	6	56458983	56458983	G	A	DST	c.5847C>T	NM_001144769.2	NP_001138241.1:p.(His1949=)	NC_000006.11:g.56458983G>A	(Likely) benign	1 lab	d32b884b50
16:31383748 ITGAX C>T	16	31383748	31383748	C	T	ITGAX	c.2210C>T	NM_000887.4	NP_000878.2:p.(Thr737Met)	NC_000016.9:g.31383748C>T	VUS	1 lab	d32c6d3e52
X:95940165 DIAPH2 G>T	X	95940165	95940165	G	T	DIAPH2	c.108G>T	NM_006729.4	NP_006720.1:p.(Glu36Asp)	NC_000023.10:g.95940165G>T	(Likely) benign	1 lab	d32cf49a8d
21:46131376 TSPEAR G>A	21	46131376	46131376	G	A	TSPEAR	c.54C>T	NM_144991.2	NP_659428.2:p.(His18=)	NC_000021.8:g.46131376G>A	(Likely) benign	1 lab	d32e7d085d
18:43440291 EPG5 G>C	18	43440291	43440291	G	C	EPG5	c.6787C>G	NM_020964.3	NP_066015.2:p.(His2263Asp)	NC_000018.9:g.43440291G>C	VUS	1 lab	d32e94a602
16:89998957 TUBB3 C>T	16	89998957	89998957	C	T	TUBB3	c.58-22C>T	NM_006086.4	NP_006077.2:p.?	NC_000016.9:g.89998957C>T	(Likely) benign	1 lab	d32f4484e0
20:62126462 EEF1A2 G>A	20	62126462	62126462	G	A	EEF1A2	c.325-8C>T	NM_001958.3	NP_001949.1:p.?	NC_000020.10:g.62126462G>A	(Likely) benign	1 lab	d330abc223
3:33109737 GLB1 G>T	3	33109737	33109737	G	T	GLB1	c.442C>A	NM_000404.3	NP_000395.2:p.(Arg148Ser)	NC_000003.11:g.33109737G>T	(Likely) pathogenic	1 lab	d33196cde7
16:86601296 FOXC2 AGCATC>A	16	86601296	86601301	AGCATC	A	FOXC2	c.356_360del	NM_005251.3	NP_005242.1:p.(Ser119ThrfsTer342)	NC_000016.9:g.86601297_86601301del	(Likely) pathogenic	1 lab	d332407c4a
16:72831820 ZFHX3 G>C	16	72831820	72831820	G	C	ZFHX3	c.4761C>G	NM_006885.3	NP_008816.3:p.(Pro1587=)	NC_000016.9:g.72831820G>C	(Likely) benign	1 lab	d33279ff22
9:79898555 VPS13A A>T	9	79898555	79898555	A	T	VPS13A	c.3328A>T	NM_033305.2	NP_150648.2:p.(Ile1110Leu)	NC_000009.11:g.79898555A>T	(Likely) benign	1 lab	d332a3d679
22:38519251 PLA2G6 A>T	22	38519251	38519251	A	T	PLA2G6	c.908T>A	NM_001349867.1	NP_001336796.1:p.(Leu303Gln)	NC_000022.10:g.38519251A>T	(Likely) pathogenic	1 lab	d33700315a
X:24330026 SUPT20HL2 T>C	X	24330026	24330026	T	C	SUPT20HL2	c.1485A>G	NM_001136233.2	NP_001129705.2:p.(Ser495=)	NC_000023.10:g.24330026T>C	(Likely) benign	1 lab	d3388ac3da
17:41258495 BRCA1 A>ATAAAG	17	41258495	41258500	A	ATAAAG	BRCA1	c.185_189dup	NM_007294.3	NP_009225.1:p.(Cys64LeufsTer7)	NC_000017.10:g.41258496_41258500dup	(Likely) pathogenic	1 lab	d33ac4b337
16:31501849 SLC5A2 A>T	16	31501849	31501849	A	T	SLC5A2	c.2012A>T	NM_003041.3	NP_003032.1:p.(Tyr671Phe)	NC_000016.9:g.31501849A>T	(Likely) benign	1 lab	d33b5717f6
1:150484939 ECM1 C>T	1	150484939	150484939	C	T	ECM1	c.1276C>T	NM_001202858.1	NP_001189787.1:p.(Arg426Trp)	NC_000001.10:g.150484939C>T	(Likely) benign	1 lab	d33bf4410c
5:73144882 ARHGEF28 C>T	5	73144882	73144882	C	T	ARHGEF28	c.1717C>T	NM_001080479.2	NP_001073948.2:p.(Arg573Cys)	NC_000005.9:g.73144882C>T	VUS	1 lab	d33d68efec
11:118963129 HMBS G>A	11	118963129	118963129	G	A	HMBS	c.667G>A	NM_000190.4	NP_000181.2:p.(Glu223Lys)	NC_000011.9:g.118963129G>A	(Likely) pathogenic	1 lab	d33dfea6ee
1:26392871 TRIM63 G>A	1	26392871	26392871	G	A	TRIM63	c.220C>T	NM_032588.3	NP_115977.2:p.(Arg74Cys)	NC_000001.10:g.26392871G>A	VUS	1 lab	d33e6caf45
4:619438 PDE6B C>T	4	619438	619438	C	T	PDE6B	c.23C>T	NM_000283.3	NP_000274.2:p.(Ala8Val)	NC_000004.11:g.619438C>T	(Likely) benign	1 lab	d33ef04539
16:89347541 ANKRD11 G>T	16	89347541	89347541	G	T	ANKRD11	c.5409C>A	NM_001256182.1	NP_001243111.1:p.(Phe1803Leu)	NC_000016.9:g.89347541G>T	VUS	1 lab	d33f624adb
2:149240682 MBD5 G>A	2	149240682	149240682	G	A	MBD5	c.2522G>A	NM_018328.4	NP_060798.2:p.(Gly841Asp)	NC_000002.11:g.149240682G>A	VUS	1 lab	d33fbf9b2f
15:63984704 HERC1 G>A	15	63984704	63984704	G	A	HERC1	c.5736C>T	NM_003922.3	NP_003913.3:p.(Arg1912=)	NC_000015.9:g.63984704G>A	(Likely) benign	1 lab	d340c6b48c
X:49066150 CACNA1F C>T	X	49066150	49066150	C	T	CACNA1F	c.4793G>A	NM_005183.3	NP_005174.2:p.(Arg1598Gln)	NC_000023.10:g.49066150C>T	VUS	1 lab	d3413d8795
7:2582909 BRAT1 C>T	7	2582909	2582909	C	T	BRAT1	c.852G>A	NM_001350626.1	NP_001337555.1:p.(Ala284=)	NC_000007.13:g.2582909C>T	(Likely) benign	1 lab	d34156da21
2:239237343 TRAF3IP1 C>T	2	239237343	239237343	C	T	TRAF3IP1	c.371C>T	NM_015650.3	NP_056465.2:p.(Ala124Val)	NC_000002.11:g.239237343C>T	VUS	1 lab	d343b5dd18
2:234676929 UGT1A6 G>A	2	234676929	234676929	G	A	UGT1A6	c.1145G>A	NM_001072.3	NP_001063.2:p.(Cys382Tyr)	NC_000002.11:g.234676929G>A	VUS	1 lab	d3447ab02b
19:58352828 ZNF587B A>G	19	58352828	58352828	A	G	ZNF587B	c.786A>G	NM_001204818.1	NP_001191747.1:p.(Arg262=)	NC_000019.9:g.58352828A>G	VUS	1 lab	d3470a3fd7
11:93540765 MED17 T>C	11	93540765	93540765	T	C	MED17	c.1548T>C	NM_004268.4	NP_004259.3:p.(Tyr516=)	NC_000011.9:g.93540765T>C	(Likely) benign	1 lab	d3473a5a99
16:2135151 TSC2 A>G	16	2135151	2135151	A	G	TSC2	c.4570-80A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135151A>G	(Likely) benign	1 lab	d348439e39
1:40767006 COL9A2 G>A	1	40767006	40767006	G	A	COL9A2	c.1918C>T	NM_001852.4	NP_001843.1:p.(Arg640Ter)	NC_000001.10:g.40767006G>A	VUS	1 lab	d349a06e35
1:46662537 POMGNT1 G>C	1	46662537	46662537	G	C	POMGNT1	c.236-16C>G	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46662537G>C	(Likely) benign	1 lab	d349f83667
X:153247858 TMEM187 C>G	X	153247858	153247858	C	G	TMEM187	c.345C>G	NM_003492.2	NP_003483.1:p.(Asp115Glu)	NC_000023.10:g.153247858C>G	(Likely) benign	1 lab	d34a868292
X:153592391 FLNA C>CT	X	153592391	153592392	C	CT	FLNA	c.2278dup	NM_001110556.2	NP_001104026.1:p.(Arg760LysfsTer62)	NC_000023.10:g.153592392dup	(Likely) pathogenic	1 lab	d34bcfb5dd
17:18061058 MYO15A C>T	17	18061058	18061058	C	T	MYO15A	c.8811C>T	NM_016239.3	NP_057323.3:p.(His2937=)	NC_000017.10:g.18061058C>T	(Likely) benign	1 lab	d34bdf314a
15:40699921 IVD C>T	15	40699921	40699921	C	T	IVD	c.181C>T	NM_001354597.2	NP_001341526.1:p.(Leu61=)	NC_000015.9:g.40699921C>T	(Likely) benign	1 lab	d34e9b29e5
15:74467764 ISLR G>A	15	74467764	74467764	G	A	ISLR	c.565G>A	NM_005545.4	NP_005536.1:p.(Val189Met)	NC_000015.9:g.74467764G>A	(Likely) benign	1 lab	d34efc1d9d
X:76939382 ATRX C>A	X	76939382	76939382	C	A	ATRX	c.1366G>T	NM_000489.5	NP_000480.3:p.(Asp456Tyr)	NC_000023.10:g.76939382C>A	VUS	1 lab	d34f3eade4
X:155232686 IL9R T>C	X	155232686	155232686	T	C	IL9R	c.283+2T>C	NM_176786.1	NP_789743.2:p.?	NC_000023.10:g.155232686T>C	(Likely) benign	1 lab	d34fc38b2d
3:37090054 MLH1 C>T	3	37090054	37090054	C	T	MLH1	c.1943C>T	NM_000249.3	NP_000240.1:p.(Pro648Leu)	NC_000003.11:g.37090054C>T	(Likely) pathogenic	1 lab	d3529e6d8b
15:83357221 AP3B2 C>T	15	83357221	83357221	C	T	AP3B2	c.390G>A	NM_001348440.1	NP_001335369.1:p.(Met130Ile)	NC_000015.9:g.83357221C>T	(Likely) benign	1 lab	d353d2275d
17:42428420 GRN G>C	17	42428420	42428420	G	C	GRN	c.724G>C	NM_002087.2	NP_002078.1:p.(Asp242His)	NC_000017.10:g.42428420G>C	VUS	1 lab	d3541089ac
1:235929421 LYST C>G	1	235929421	235929421	C	G	LYST	c.6079G>C	NM_001301365.1	NP_001288294.1:p.(Val2027Leu)	NC_000001.10:g.235929421C>G	VUS	1 lab	d3544119ce
2:170009478 LRP2 C>T	2	170009478	170009478	C	T	LRP2	c.12296-4G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170009478C>T	(Likely) benign	1 lab	d356227e8d
9:77454969 TRPM6 G>A	9	77454969	77454969	G	A	TRPM6	c.515C>T	NM_017662.4	NP_060132.3:p.(Ala172Val)	NC_000009.11:g.77454969G>A	VUS	1 lab	d35693bb0a
12:125591743 AACS A>G	12	125591743	125591743	A	G	AACS	c.844A>G	NM_023928.5	NP_076417.2:p.(Ser282Gly)	NC_000012.11:g.125591743A>G	(Likely) benign	1 lab	d35726f238
X:2873545 ARSL G>C	X	2873545	2873545	G	C	ARSL	c.294C>G	NM_001282628.1	NP_001269557.1:p.(Gly98=)	NC_000023.10:g.2873545G>C	(Likely) benign	1 lab	d35739abb4
7:104717587 KMT2E A>T	7	104717587	104717587	A	T	KMT2E	c.946A>T	NM_182931.2	NP_891847.1:p.(Met316Leu)	NC_000007.13:g.104717587A>T	(Likely) benign	1 lab	d357b71550
3:184037523 EIF4G1 C>T	3	184037523	184037523	C	T	EIF4G1	c.471C>T	NM_182917.4	NP_886553.3:p.(Gly157=)	NC_000003.11:g.184037523C>T	VUS	1 lab	d3587f49b4
8:133669082 DNAAF11 A>G	8	133669082	133669082	A	G	DNAAF11	c.250T>C	NM_012472.5	NP_036604.2:p.(Leu84=)	NC_000008.10:g.133669082A>G	(Likely) benign	1 lab	d359e812ed
X:54971979 PFKFB1 G>A	X	54971979	54971979	G	A	PFKFB1	c.994-3C>T	NM_002625.3	NP_002616.2:p.?	NC_000023.10:g.54971979G>A	(Likely) benign	1 lab	d35b702b79
1:156846279 NTRK1 C>T	1	156846279	156846279	C	T	NTRK1	c.1720C>T	NM_002529.3	NP_002520.2:p.(Arg574Cys)	NC_000001.10:g.156846279C>T	VUS	1 lab	d35cb727a5
16:2106719 TSC2 T>TA	16	2106719	2106720	T	TA	TSC2	c.724dup	NM_000548.3	NP_000539.2:p.(Thr242AsnfsTer96)	NC_000016.9:g.2106720dup	(Likely) pathogenic	1 lab	d35f2c3bb8
1:152191168 HRNR C>T	1	152191168	152191168	C	T	HRNR	c.2937G>A	NM_001009931.2	NP_001009931.1:p.(Ser979=)	NC_000001.10:g.152191168C>T	(Likely) benign	1 lab	d35fbe7f00
17:61573821 ACE G>A	17	61573821	61573821	G	A	ACE	c.3447G>A	NM_000789.3	NP_000780.1:p.(Thr1149=)	NC_000017.10:g.61573821G>A	(Likely) benign	1 lab	d360e680a5
17:40263425 DHX58 G>A	17	40263425	40263425	G	A	DHX58	c.259C>T	NM_024119.3	NP_077024.2:p.(Arg87Cys)	NC_000017.10:g.40263425G>A	VUS	1 lab	d36211252d
X:47424193 ARAF C>T	X	47424193	47424193	C	T	ARAF	c.201-3C>T	NM_001256196.1	NP_001243125.1:p.?	NC_000023.10:g.47424193C>T	(Likely) benign	1 lab	d3645981eb
1:47717342 STIL A>G	1	47717342	47717342	A	G	STIL	c.3333T>C	NM_001048166.1	NP_001041631.1:p.(Ile1111=)	NC_000001.10:g.47717342A>G	(Likely) benign	1 lab	d3658932f2
1:23418153 LUZP1 C>T	1	23418153	23418153	C	T	LUZP1	c.2602G>A	NM_033631.3	NP_361013.3:p.(Asp868Asn)	NC_000001.10:g.23418153C>T	(Likely) benign	1 lab	d365d50d55
9:102992109 INVS G>A	9	102992109	102992109	G	A	INVS	c.327G>A	NM_001318381.1	NP_001305310.1:p.(Leu109=)	NC_000009.11:g.102992109G>A	VUS	1 lab	d365edbc50
7:107616220 LAMB1 T>C	7	107616220	107616220	T	C	LAMB1	c.1103A>G	NM_002291.2	NP_002282.2:p.(Asn368Ser)	NC_000007.13:g.107616220T>C	VUS	1 lab	d36663b8a0
X:56590900 UBQLN2 C>T	X	56590900	56590900	C	T	UBQLN2	c.594C>T	NM_013444.3	NP_038472.2:p.(Pro198=)	NC_000023.10:g.56590900C>T	(Likely) benign	1 lab	d366c82a6d
19:3920750 ATCAY T>C	19	3920750	3920750	T	C	ATCAY	c.1074-14T>C	NM_033064.4	NP_149053.1:p.?	NC_000019.9:g.3920750T>C	(Likely) benign	1 lab	d368735f61
8:32621362 NRG1 C>T	8	32621362	32621362	C	T	NRG1	c.1380C>T	NM_013956.4	NP_039250.2:p.(Pro460=)	NC_000008.10:g.32621362C>T	(Likely) benign	1 lab	d369127951
X:134715545 INTS6L G>A	X	134715545	134715545	G	A	INTS6L	c.2570G>A	NM_182540.5	NP_872346.3:p.(Ser857Asn)	NC_000023.10:g.134715545G>A	(Likely) benign	1 lab	d36a6ce2c3
16:28495380 CLN3 TCTG>T	16	28495380	28495385	TCTG	T	CLN3	c.734_736del	NM_001042432.2	NP_001035897.1:p.(Ala245del)	NC_000016.9:g.28495383_28495385del	VUS	1 lab	d36bb9f17d
1:216052206 USH2A C>T	1	216052206	216052206	C	T	USH2A	c.8458G>A	NM_206933.2	NP_996816.2:p.(Val2820Ile)	NC_000001.10:g.216052206C>T	(Likely) benign	1 lab	d36c0ac8a9
7:107302114 SLC26A4 C>A	7	107302114	107302114	C	A	SLC26A4	c.28C>A	NM_000441.1	NP_000432.1:p.(Pro10Thr)	NC_000007.13:g.107302114C>A	(Likely) benign	1 lab	d36e84d1ee
16:2122238 TSC2 G>A	16	2122238	2122238	G	A	TSC2	c.2098-4G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122238G>A	(Likely) benign	1 lab	d36f572c56
X:32490346 DMD G>C	X	32490346	32490346	G	C	DMD	c.2515C>G	NM_004010.3	NP_004001.1:p.(Leu839Val)	NC_000023.10:g.32490346G>C	(Likely) benign	1 lab	d3711aba1b
11:76858837 MYO7A C>CCCGCAGGAACACTGGATCTCT	11	76858837	76858864	C	CCCGCAGGAACACTGGATCTCT	MYO7A	c.133_153dup	NM_000260.3	NP_000251.3:p.(Glu45_Gln51dup)	NC_000011.9:g.76858844_76858864dup	VUS	1 lab	d371697286
11:64494808 RASGRP2 G>A	11	64494808	64494808	G	A	RASGRP2	c.1796C>T	NM_153819.1	NP_722541.1:p.(Thr599Met)	NC_000011.9:g.64494808G>A	VUS	1 lab	d374446364
16:30567369 ZNF764 C>T	16	30567369	30567369	C	T	ZNF764	c.373G>A	NM_033410.3	NP_219363.2:p.(Asp125Asn)	NC_000016.9:g.30567369C>T	(Likely) benign	1 lab	d374483716
16:79245590 WWOX G>A	16	79245590	79245590	G	A	WWOX	c.1142G>A	NM_016373.3	NP_057457.1:p.(Arg381His)	NC_000016.9:g.79245590G>A	VUS	1 lab	d3745f39ae
6:70944489 COL9A1 C>G	6	70944489	70944489	C	G	COL9A1	c.2259+8G>C	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70944489C>G	(Likely) benign	1 lab	d374f98aaa
1:110607209 ALX3 C>A	1	110607209	110607209	C	A	ALX3	c.594G>T	NM_006492.3	NP_006483.2:p.(Gln198His)	NC_000001.10:g.110607209C>A	VUS	1 lab	d375f2690c
X:2793922 GYG2 G>C	X	2793922	2793922	G	C	GYG2	c.1203G>C	NM_003918.2	NP_003909.2:p.(Gln401His)	NC_000023.10:g.2793922G>C	(Likely) benign	1 lab	d3763ff303
2:45169400 SIX3 G>T	2	45169400	45169400	G	T	SIX3	c.157G>T	NM_005413.3	NP_005404.1:p.(Gly53Cys)	NC_000002.11:g.45169400G>T	VUS	1 lab	d377e3cbd8
8:48888326 MCM4 A>G	8	48888326	48888326	A	G	MCM4	c.2417A>G	NM_005914.4	NP_005905.2:p.(Lys806Arg)	NC_000008.10:g.48888326A>G	(Likely) benign	1 lab	d37aeaf054
19:38573222 SIPA1L3 C>T	19	38573222	38573222	C	T	SIPA1L3	c.1017C>T	NM_015073.2	NP_055888.1:p.(Ser339=)	NC_000019.9:g.38573222C>T	(Likely) benign	1 lab	d37c0371d6
10:88439175 LDB3 G>C	10	88439175	88439175	G	C	LDB3	c.145G>C	NM_001171610.1	NP_001165081.1:p.(Val49Leu)	NC_000010.10:g.88439175G>C	VUS	1 lab	d37c7829b2
X:49113897 FOXP3 A>G	X	49113897	49113897	A	G	FOXP3	c.441T>C	NM_014009.3	NP_054728.2:p.(Pro147=)	NC_000023.10:g.49113897A>G	(Likely) benign	1 lab	d37f4392e9
1:156128520 SEMA4A A>G	1	156128520	156128520	A	G	SEMA4A	c.473A>G	NM_001193300.1	NP_001180229.1:p.(Asp158Gly)	NC_000001.10:g.156128520A>G	VUS	1 lab	d3805168bf
X:152969538 BCAP31 C>T	X	152969538	152969538	C	T	BCAP31	c.554G>A	NM_001139457.2	NP_001132929.1:p.(Arg185His)	NC_000023.10:g.152969538C>T	VUS	1 lab	d38335ebe5
X:79282230 TBX22 A>G	X	79282230	79282230	A	G	TBX22	c.661A>G	NM_001109878.1	NP_001103348.1:p.(Lys221Glu)	NC_000023.10:g.79282230A>G	VUS	1 lab	d384def300
21:47769100 PCNT C>T	21	47769100	47769100	C	T	PCNT	c.1207C>T	NM_006031.5	NP_006022.3:p.(Arg403Trp)	NC_000021.8:g.47769100C>T	(Likely) benign	1 lab	d3858c0c21
22:18923785 PRODH C>T	22	18923785	18923785	C	T	PRODH	c.16G>A	NM_016335.4	NP_057419.4:p.(Ala6Thr)	NC_000022.10:g.18923785C>T	(Likely) benign	1 lab	d3872cb25d
11:110104045 RDX T>C	11	110104045	110104045	T	C	RDX	c.1504A>G	NM_002906.3	NP_002897.1:p.(Asn502Asp)	NC_000011.9:g.110104045T>C	(Likely) benign	1 lab	d3884fc1dc
9:137623909 COL5A1 A>AC	9	137623909	137623914	A	AC	COL5A1	c.1333-3dup	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137623914dup	(Likely) benign	1 lab	d389114cd6
19:40433131 FCGBP T>G	19	40433131	40433131	T	G	FCGBP	c.1138A>C	NM_003890.2	NP_003881.2:p.(Lys380Gln)	NC_000019.9:g.40433131T>G	(Likely) benign	1 lab	d389512b3b
10:119015015 SLC18A2 G>A	10	119015015	119015015	G	A	SLC18A2	c.816G>A	NM_003054.6	NP_003045.2:p.(Pro272=)	NC_000010.10:g.119015015G>A	(Likely) benign	1 lab	d38a7ccff6
1:47746060 STIL T>A	1	47746060	47746060	T	A	STIL	c.2070A>T	NM_001048166.1	NP_001041631.1:p.(Ser690=)	NC_000001.10:g.47746060T>A	(Likely) benign	1 lab	d38ac60803
17:29528504 NF1 G>A	17	29528504	29528504	G	A	NF1	c.1260+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528504G>A	(Likely) pathogenic	1 lab	d38ba5ed41
12:53189755 KRT3 G>A	12	53189755	53189755	G	A	KRT3	c.72C>T	NM_057088.2	NP_476429.2:p.(Ser24=)	NC_000012.11:g.53189755G>A	(Likely) benign	1 lab	d38c78e3fe
17:8794115 PIK3R5 G>A	17	8794115	8794115	G	A	PIK3R5	c.597C>T	NM_014308.3	NP_055123.2:p.(His199=)	NC_000017.10:g.8794115G>A	(Likely) benign	1 lab	d38e41d989
6:152542057 SYNE1 G>T	6	152542057	152542057	G	T	SYNE1	c.21781C>A	NM_182961.3	NP_892006.3:p.(Arg7261=)	NC_000006.11:g.152542057G>T	(Likely) benign	1 lab	d392020f0d
11:76825399 CAPN5 C>T	11	76825399	76825399	C	T	CAPN5	c.618C>T	NM_004055.4	NP_004046.2:p.(Asn206=)	NC_000011.9:g.76825399C>T	(Likely) benign	1 lab	d394c29ada
20:44054259 PIGT G>A	20	44054259	44054259	G	A	PIGT	c.1530G>A	NM_015937.5	NP_057021.2:p.(Thr510=)	NC_000020.10:g.44054259G>A	(Likely) benign	1 lab	d3977bd892
18:44702659 IER3IP1 G>C	18	44702659	44702659	G	C	IER3IP1	c.-11C>G	NM_016097.4	NP_057181.1:p.?	NC_000018.9:g.44702659G>C	(Likely) benign	1 lab	d398e96080
9:133945103 LAMC3 G>A	9	133945103	133945103	G	A	LAMC3	c.2935G>A	NM_006059.3	NP_006050.3:p.(Glu979Lys)	NC_000009.11:g.133945103G>A	(Likely) benign	1 lab	d3992c4a29
16:27751497 KATNIP G>A	16	27751497	27751497	G	A	KATNIP	c.1879G>A	NM_015202.3	NP_056017.3:p.(Glu627Lys)	NC_000016.9:g.27751497G>A	VUS	1 lab	d399c031c8
6:167352449 RNASET2 G>A	6	167352449	167352449	G	A	RNASET2				NC_000006.11:g.167352449G>A	(Likely) benign	1 lab	d39ae698c7
18:53252586 TCF4 A>G	18	53252586	53252586	A	G	TCF4	c.73-3T>C	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.53252586A>G	(Likely) benign	1 lab	d39b1f7b40
6:152129456 ESR1 A>G	6	152129456	152129456	A	G	ESR1	c.409A>G	NM_001122742.1	NP_001116214.1:p.(Ser137Gly)	NC_000006.11:g.152129456A>G	(Likely) benign	1 lab	d39cdc7262
6:152599316 SYNE1 C>T	6	152599316	152599316	C	T	SYNE1	c.18481G>A	NM_182961.3	NP_892006.3:p.(Glu6161Lys)	NC_000006.11:g.152599316C>T	VUS	1 lab	d39d75d973
16:31195559 FUS A>G	16	31195559	31195559	A	G	FUS	c.365A>G	NM_004960.3	NP_004951.1:p.(Tyr122Cys)	NC_000016.9:g.31195559A>G	VUS	1 lab	d3a0f47392
9:21968199 CDKN2A C>CG	9	21968199	21968200	C	CG	CDKN2A	c.*28dup	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21968200dup	(Likely) benign	1 lab	d3a1ac022b
22:38165137 TRIOBP C>T	22	38165137	38165137	C	T	TRIOBP	c.6678C>T	NM_001039141.2	NP_001034230.1:p.(Arg2226=)	NC_000022.10:g.38165137C>T	(Likely) benign	1 lab	d3a2d1c798
16:88501594 ZNF469 G>A	16	88501594	88501594	G	A	ZNF469				NC_000016.9:g.88501594G>A	(Likely) benign	1 lab	d3a2d83e79
4:23816195 PPARGC1A G>A	4	23816195	23816195	G	A	PPARGC1A	c.911C>T	NM_013261.4	NP_037393.1:p.(Ala304Val)	NC_000004.11:g.23816195G>A	(Likely) benign	1 lab	d3a330b01c
2:172337504 DCAF17 CTT>C	2	172337504	172337507	CTT	C	DCAF17	c.1445_1446del	NM_025000.4	NP_079276.2:p.(Phe482Ter)	NC_000002.11:g.172337506_172337507del	(Likely) pathogenic	1 lab	d3a3745f7b
10:50679079 ERCC6 T>C	10	50679079	50679079	T	C	ERCC6	c.3012A>G	NM_000124.2	NP_000115.1:p.(Leu1004=)	NC_000010.10:g.50679079T>C	(Likely) benign	1 lab	d3a878d584
X:147743749 AFF2 C>T	X	147743749	147743749	C	T	AFF2	c.501C>T	NM_002025.3	NP_002016.2:p.(Ser167=)	NC_000023.10:g.147743749C>T	(Likely) benign	1 lab	d3a97a856f
2:219554661 STK36 G>A	2	219554661	219554661	G	A	STK36	c.1640G>A	NM_015690.4	NP_056505.2:p.(Arg547Lys)	NC_000002.11:g.219554661G>A	VUS	1 lab	d3ac7aaa32
2:32314635 SPAST A>G	2	32314635	32314635	A	G	SPAST	c.547A>G	NM_014946.3	NP_055761.2:p.(Thr183Ala)	NC_000002.11:g.32314635A>G	VUS	1 lab	d3b19fbe67
19:42796447 CIC G>A	19	42796447	42796447	G	A	CIC	c.5736-5G>A	NM_001304815.1	NP_001291744.1:p.?	NC_000019.9:g.42796447G>A	VUS	1 lab	d3b3e05449
10:104160152 NFKB2 C>T	10	104160152	104160152	C	T	NFKB2	c.1702C>T	NM_001288724.1	NP_001275653.1:p.(Leu568=)	NC_000010.10:g.104160152C>T	(Likely) benign	1 lab	d3b494cbbe
8:145642123 SLC39A4 C>T	8	145642123	145642123	C	T	SLC39A4	c.51G>A	NM_130849.3	NP_570901.2:p.(Val17=)	NC_000008.10:g.145642123C>T	(Likely) benign	1 lab	d3b4bab582
4:6302779 WFS1 C>A	4	6302779	6302779	C	A	WFS1	c.1257C>A	NM_006005.3	NP_005996.2:p.(Phe419Leu)	NC_000004.11:g.6302779C>A	VUS	1 lab	d3b5832450
2:170068489 LRP2 A>G	2	170068489	170068489	A	G	LRP2	c.6269T>C	NM_004525.3	NP_004516.2:p.(Val2090Ala)	NC_000002.11:g.170068489A>G	VUS	1 lab	d3b5b4e95a
2:24240414 MFSD2B G>A	2	24240414	24240414	G	A	MFSD2B	c.637G>A	NM_001346880.1	NP_001333809.1:p.(Glu213Lys)	NC_000002.11:g.24240414G>A	VUS	1 lab	d3b67d7ebd
5:37169524 CPLANE1 G>T	5	37169524	37169524	G	T	CPLANE1	c.6602C>A	NM_023073.3	NP_075561.3:p.(Ser2201Tyr)	NC_000005.9:g.37169524G>T	(Likely) benign	1 lab	d3b6893def
3:52561936 NT5DC2 G>T	3	52561936	52561936	G	T	NT5DC2	c.733C>A	NM_022908.2	NP_075059.1:p.(Leu245Met)	NC_000003.11:g.52561936G>T	VUS	1 lab	d3b703e734
3:52327000 GLYCTK G>A	3	52327000	52327000	G	A	GLYCTK	c.1430G>A	NM_145262.3	NP_660305.2:p.(Gly477Asp)	NC_000003.11:g.52327000G>A	VUS	1 lab	d3b72b689d
16:77401599 ADAMTS18 T>C	16	77401599	77401599	T	C	ADAMTS18	c.517A>G	NM_199355.3	NP_955387.1:p.(Lys173Glu)	NC_000016.9:g.77401599T>C	(Likely) benign	1 lab	d3b81f688d
22:20909302 MED15 G>A	22	20909302	20909302	G	A	MED15	c.240G>A	NM_001293237.1	NP_001280166.1:p.(Pro80=)	NC_000022.10:g.20909302G>A	(Likely) benign	1 lab	d3b8aaa26a
10:101715473 DNMBP C>T	10	101715473	101715473	C	T	DNMBP	c.1758G>A	NM_015221.4	NP_056036.1:p.(Lys586=)	NC_000010.10:g.101715473C>T	(Likely) benign	1 lab	d3b92a5c29
X:152772567 BGN C>G	X	152772567	152772567	C	G	BGN	c.833C>G	NM_001711.5	NP_001702.1:p.(Thr278Ser)	NC_000023.10:g.152772567C>G	(Likely) benign	1 lab	d3baa2a9df
X:107084563 MID2 G>A	X	107084563	107084563	G	A	MID2	c.668G>A	NM_012216.3	NP_036348.2:p.(Arg223His)	NC_000023.10:g.107084563G>A	VUS	1 lab	d3bb3273fb
X:67426495 OPHN1 C>T	X	67426495	67426495	C	T	OPHN1	c.853G>A	NM_002547.2	NP_002538.1:p.(Val285Met)	NC_000023.10:g.67426495C>T	VUS	1 lab	d3bd163aba
7:143175136 TAS2R41 C>G	7	143175136	143175136	C	G	TAS2R41	c.171C>G	NM_176883.2	NP_795364.2:p.(Cys57Trp)	NC_000007.13:g.143175136C>G	VUS	1 lab	d3c2193fde
9:34241616 UBAP1 A>G	9	34241616	34241616	A	G	UBAP1	c.593A>G	NM_001171203.2	NP_001164674.1:p.(Asn198Ser)	NC_000009.11:g.34241616A>G	(Likely) benign	1 lab	d3c2264db5
15:45897623 BLOC1S6 A>T	15	45897623	45897623	A	T	BLOC1S6	c.313-3A>T	NM_012388.3	NP_036520.1:p.?	NC_000015.9:g.45897623A>T	(Likely) benign	1 lab	d3c3108ec8
7:92143197 PEX1 G>A	7	92143197	92143197	G	A	PEX1	c.1324C>T	NM_000466.3	NP_000457.1:p.(Pro442Ser)	NC_000007.13:g.92143197G>A	VUS	1 lab	0340aa50f5
6:157505410 ARID1B G>A	6	157505410	157505410	G	A	ARID1B	c.3511G>A	NM_001346813.1	NP_001333742.1:p.(Val1171Ile)	NC_000006.11:g.157505410G>A	VUS	1 lab	d3c4140a91
14:105350217 CEP170B C>T	14	105350217	105350217	C	T	CEP170B	c.1101C>T	NM_001112726.3	NP_001106197.1:p.(Ala367=)	NC_000014.8:g.105350217C>T	(Likely) benign	1 lab	d3c7b4ca2a
11:68206098 LRP5 C>T	11	68206098	68206098	C	T	LRP5	c.2553C>T	NM_001291902.1	NP_001278831.1:p.(His851=)	NC_000011.9:g.68206098C>T	(Likely) benign	1 lab	d3c81b6bf0
18:29419309 TRAPPC8 G>A	18	29419309	29419309	G	A	TRAPPC8	c.3949C>T	NM_014939.4	NP_055754.2:p.(Pro1317Ser)	NC_000018.9:g.29419309G>A	VUS	1 lab	d3c828caa2
X:68059551 EFNB1 G>A	X	68059551	68059551	G	A	EFNB1	c.451G>A	NM_004429.4	NP_004420.1:p.(Gly151Ser)	NC_000023.10:g.68059551G>A	(Likely) pathogenic	1 lab	d3c8a362ce
1:214811213 CENPF T>C	1	214811213	214811213	T	C	CENPF	c.1451T>C	NM_016343.3	NP_057427.3:p.(Met484Thr)	NC_000001.10:g.214811213T>C	(Likely) benign	1 lab	d3ca1f7fbc
10:46321905 AGAP4 G>A	10	46321905	46321905	G	A	AGAP4	c.1195C>T	NM_001291379.1	NP_001278308.1:p.(Arg399Cys)	NC_000010.10:g.46321905G>A	(Likely) benign	1 lab	d3cb2603ab
7:117227905 CFTR G>A	7	117227905	117227905	G	A	CFTR	c.1679+18G>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117227905G>A	(Likely) benign	1 lab	d3cc4bbe38
X:110931185 ALG13 A>C	X	110931185	110931185	A	C	ALG13	c.142A>C	NM_001257240.2	NP_001244169.1:p.(Lys48Gln)	NC_000023.10:g.110931185A>C	(Likely) benign	1 lab	d3cf459db2
11:120979917 TECTA T>C	11	120979917	120979917	T	C	TECTA	c.199-3T>C	NM_005422.2	NP_005413.2:p.?	NC_000011.9:g.120979917T>C	(Likely) benign	1 lab	d3cfba645a
2:16085628 MYCN TGAA>T	2	16085628	16085633	TGAA	T	MYCN	c.807_809del	NM_005378.6	NP_005369.2:p.(Glu271del)	NC_000002.11:g.16085631_16085633del	VUS	1 lab	d3d1ede422
7:16445943 CRPPA T>C	7	16445943	16445943	T	C	CRPPA	c.277A>G	NM_001101426.3	NP_001094896.1:p.(Ile93Val)	NC_000007.13:g.16445943T>C	VUS	1 lab	d3d24f7df3
2:74597082 DCTN1 C>T	2	74597082	74597082	C	T	DCTN1	c.1392+10G>A	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74597082C>T	(Likely) benign	1 lab	d3d2d1651a
16:2130165 TSC2 G>A	16	2130165	2130165	G	A	TSC2	c.3398-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2130165G>A	(Likely) pathogenic	1 lab	d3d38752e3
5:35876445 IL7R A>T	5	35876445	35876445	A	T	IL7R				NC_000005.9:g.35876445A>T	VUS	1 lab	d3d3ae9453
X:49958815 AKAP4 T>C	X	49958815	49958815	T	C	AKAP4	c.549A>G	NM_003886.2	NP_003877.2:p.(Lys183=)	NC_000023.10:g.49958815T>C	(Likely) benign	1 lab	d3d4e0c4f5
3:150659401 CLRN1 G>A	3	150659401	150659401	G	A	CLRN1	c.401C>T	NM_001195794.1	NP_001182723.1:p.(Pro134Leu)	NC_000003.11:g.150659401G>A	VUS	1 lab	d3d63c0086
X:91090660 PCDH11X C>T	X	91090660	91090660	C	T	PCDH11X	c.157C>T	NM_032968.4	NP_116750.1:p.(Pro53Ser)	NC_000023.10:g.91090660C>T	(Likely) benign	1 lab	d3d6c6660a
X:48887860 TFE3 G>C	X	48887860	48887860	G	C	TFE3	c.1537C>G	NM_006521.5	NP_006512.2:p.(Leu513Val)	NC_000023.10:g.48887860G>C	VUS	1 lab	d3d7bb25a1
X:63411334 AMER1 C>T	X	63411334	63411334	C	T	AMER1	c.1833G>A	NM_152424.4	NP_689637.3:p.(Arg611=)	NC_000023.10:g.63411334C>T	(Likely) benign	1 lab	d3d86e1a2a
2:21228199 APOB G>T	2	21228199	21228199	G	T	APOB	c.11541C>A	NM_000384.2	NP_000375.2:p.(Ile3847=)	NC_000002.11:g.21228199G>T	(Likely) benign	1 lab	d3d8d7fbb0
17:73751882 ITGB4 C>T	17	73751882	73751882	C	T	ITGB4	c.4659C>T	NM_000213.4	NP_000204.3:p.(Cys1553=)	NC_000017.10:g.73751882C>T	(Likely) benign	1 lab	d3d917c97c
2:75928416 GCFC2 A>G	2	75928416	75928416	A	G	GCFC2	c.620-3T>C	NM_003203.4	NP_003194.3:p.?	NC_000002.11:g.75928416A>G	(Likely) benign	1 lab	d3db9a0346
4:4269693 LYAR G>A	4	4269693	4269693	G	A	LYAR	c.1063C>T	NM_017816.3	NP_060286.1:p.(Leu355=)	NC_000004.11:g.4269693G>A	(Likely) benign	1 lab	d3dc2380ea
19:47979936 KPTN C>T	19	47979936	47979936	C	T	KPTN	c.1035G>A	NM_007059.3	NP_008990.2:p.(Ser345=)	NC_000019.9:g.47979936C>T	(Likely) benign	1 lab	d3dd035e5c
6:162206892 PRKN T>C	6	162206892	162206892	T	C	PRKN	c.783A>G	NM_004562.2	NP_004553.2:p.(Leu261=)	NC_000006.11:g.162206892T>C	(Likely) benign	1 lab	d3e0a272eb
5:13817688 DNAH5 C>T	5	13817688	13817688	C	T	DNAH5	c.6957G>A	NM_001369.2	NP_001360.1:p.(Thr2319=)	NC_000005.9:g.13817688C>T	(Likely) benign	1 lab	d3e1c639d9
20:2381041 TGM6 G>A	20	2381041	2381041	G	A	TGM6	c.940G>A	NM_198994.2	NP_945345.2:p.(Val314Met)	NC_000020.10:g.2381041G>A	VUS	1 lab	d3e4a03d31
2:37334654 EIF2AK2 C>T	2	37334654	37334654	C	T	EIF2AK2	c.1496G>A	NM_001135651.3	NP_001129123.1:p.(Arg499Gln)	NC_000002.11:g.37334654C>T	(Likely) benign	1 lab	d3e6d5cef9
22:50660184 TUBGCP6 G>A	22	50660184	50660184	G	A	TUBGCP6	c.2604C>T	NM_020461.3	NP_065194.2:p.(Pro868=)	NC_000022.10:g.50660184G>A	(Likely) benign	1 lab	d3e7738665
18:47480805 MYO5B C>T	18	47480805	47480805	C	T	MYO5B	c.1546G>A	NM_001080467.2	NP_001073936.1:p.(Val516Ile)	NC_000018.9:g.47480805C>T	VUS	1 lab	d3ea032fcc
X:66765598 AR G>T	X	66765598	66765598	G	T	AR	c.610G>T	NM_000044.4	NP_000035.2:p.(Glu204Ter)	NC_000023.10:g.66765598G>T	(Likely) pathogenic	1 lab	d3ead02e7c
5:150925705 FAT2 T>C	5	150925705	150925705	T	C	FAT2	c.4983A>G	NM_001447.2	NP_001438.1:p.(Ser1661=)	NC_000005.9:g.150925705T>C	(Likely) benign	1 lab	d3ec045af3
X:124029893 TENM1 G>A	X	124029893	124029893	G	A	TENM1	c.415C>T	NM_001163278.1	NP_001156750.1:p.(Arg139Trp)	NC_000023.10:g.124029893G>A	VUS	1 lab	d3ee88792d
12:49579512 TUBA1A A>G	12	49579512	49579512	A	G	TUBA1A	c.637T>C	NM_001270399.1	NP_001257328.1:p.(Cys213Arg)	NC_000012.11:g.49579512A>G	VUS	1 lab	d3eeaa6206
16:20797521 ACSM3 T>C	16	20797521	20797521	T	C	ACSM3	c.1265T>C	NM_202000.2	NP_973729.1:p.(Ile422Thr)	NC_000016.9:g.20797521T>C	(Likely) benign	1 lab	d3eed37911
X:129480577 SLC25A14 G>A	X	129480577	129480577	G	A	SLC25A14	c.220G>A	NM_001282197.1	NP_001269126.1:p.(Ala74Thr)	NC_000023.10:g.129480577G>A	(Likely) benign	1 lab	d3eeff90e4
X:57475049 FAAH2 G>A	X	57475049	57475049	G	A	FAAH2	c.1321G>A	NM_174912.3	NP_777572.2:p.(Asp441Asn)	NC_000023.10:g.57475049G>A	(Likely) benign	1 lab	d3ef33dc36
5:74984918 POC5 A>T	5	74984918	74984918	A	T	POC5	c.1048T>A	NM_001099271.1	NP_001092741.1:p.(Ser350Thr)	NC_000005.9:g.74984918A>T	VUS	1 lab	d3efcbecd9
6:111695930 REV3L C>T	6	111695930	111695930	C	T	REV3L	c.3394G>A	NM_001286431.1	NP_001273360.1:p.(Ala1132Thr)	NC_000006.11:g.111695930C>T	VUS	1 lab	d3f0f09dc9
16:84476179 ATP2C2 G>T	16	84476179	84476179	G	T	ATP2C2	c.1375G>T	NM_001286527.2	NP_001273456.2:p.(Gly459Cys)	NC_000016.9:g.84476179G>T	VUS	1 lab	d3f1a8f157
8:43037366 HGSNAT T>C	8	43037366	43037366	T	C	HGSNAT	c.1091T>C	NM_152419.2	NP_689632.2:p.(Leu364Pro)	NC_000008.10:g.43037366T>C	VUS	1 lab	d3f27f3f0c
6:152754911 SYNE1 T>C	6	152754911	152754911	T	C	SYNE1	c.4461+19A>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152754911T>C	(Likely) benign	1 lab	d3f2817196
11:117214989 CEP164 C>G	11	117214989	117214989	C	G	CEP164	c.190C>G	NM_014956.4	NP_055771.4:p.(Pro64Ala)	NC_000011.9:g.117214989C>G	VUS	1 lab	d3f2d9e462
15:90774393 CIB1 G>C	15	90774393	90774393	G	C	CIB1	c.519C>G	NM_001277764.1	NP_001264693.1:p.(Asn173Lys)	NC_000015.9:g.90774393G>C	VUS	1 lab	d3f2e88df7
2:179430974 TTN C>G	2	179430974	179430974	C	G	TTN	c.79885G>C	NM_001267550.1	NP_001254479.1:p.(Glu26629Gln)	NC_000002.11:g.179430974C>G	VUS	1 lab	d3f42dd455
11:47371564 MYBPC3 C>T	11	47371564	47371564	C	T	MYBPC3	c.505+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371564C>T	(Likely) pathogenic	1 lab	d3f439c951
19:6693083 C3 T>C	19	6693083	6693083	T	C	C3	c.3242A>G	NM_000064.2	NP_000055.2:p.(Tyr1081Cys)	NC_000019.9:g.6693083T>C	VUS	1 lab	d3f45adb7e
10:31750077 ZEB1 C>T	10	31750077	31750077	C	T	ZEB1	c.119C>T	NM_001128128.2	NP_001121600.1:p.(Pro40Leu)	NC_000010.10:g.31750077C>T	VUS	1 lab	d3f516044b
17:29509598 NF1 CA>C	17	29509598	29509599	CA	C	NF1	c.804del	NM_001042492.3	NP_001035957.1:p.(Leu269TyrfsTer12)	NC_000017.10:g.29509599del	(Likely) pathogenic	1 lab	d3f6176b4b
12:124395150 DNAH10 G>A	12	124395150	124395150	G	A	DNAH10	c.9711G>A	NM_207437.3	NP_997320.2:p.(Met3237Ile)	NC_000012.11:g.124395150G>A	(Likely) benign	1 lab	d3f71eaf2c
16:88505322 ZNF469 C>T	16	88505322	88505322	C	T	ZNF469				NC_000016.9:g.88505322C>T	(Likely) benign	1 lab	d461b3db4a
19:1223052 STK11 A>AC	19	1223052	1223054	A	AC	STK11	c.991dup	NM_000455.4	NP_000446.1:p.(Arg331ProfsTer29)	NC_000019.9:g.1223054dup	(Likely) pathogenic	1 lab	d3f81979f9
19:4558446 SEMA6B A>T	19	4558446	4558446	A	T	SEMA6B	c.24T>A	NM_032108.4	NP_115484.2:p.(Pro8=)	NC_000019.9:g.4558446A>T	(Likely) benign	1 lab	d3f846ceff
8:145737110 RECQL4 C>G	8	145737110	145737110	C	G	RECQL4	c.3456G>C	NM_004260.3	NP_004251.3:p.(Glu1152Asp)	NC_000008.10:g.145737110C>G	(Likely) benign	1 lab	d3f95b9230
3:38050645 PLCD1 G>A	3	38050645	38050645	G	A	PLCD1	c.1674C>T	NM_001130964.1	NP_001124436.1:p.(Asn558=)	NC_000003.11:g.38050645G>A	(Likely) benign	1 lab	d3fe0d7fcb
11:130060404 ST14 G>A	11	130060404	130060404	G	A	ST14	c.690G>A	NM_021978.3	NP_068813.1:p.(Thr230=)	NC_000011.9:g.130060404G>A	(Likely) benign	1 lab	d3fec5c9a8
18:43535113 EPG5 G>A	18	43535113	43535113	G	A	EPG5	c.255C>T	NM_020964.3	NP_066015.2:p.(Leu85=)	NC_000018.9:g.43535113G>A	(Likely) benign	1 lab	d3ffb76cba
10:61846579 ANK3 T>C	10	61846579	61846579	T	C	ANK3	c.3604A>G	NM_020987.5	NP_066267.2:p.(Ile1202Val)	NC_000010.10:g.61846579T>C	VUS	1 lab	d402c03a86
16:16263679 ABCC6 C>T	16	16263679	16263679	C	T	ABCC6	c.2819G>A	NM_001171.5	NP_001162.4:p.(Arg940His)	NC_000016.9:g.16263679C>T	VUS	1 lab	d404157a27
4:72423590 SLC4A4 T>C	4	72423590	72423590	T	C	SLC4A4	c.2925T>C	NM_001098484.2	NP_001091954.1:p.(Ile975=)	NC_000004.11:g.72423590T>C	(Likely) benign	1 lab	d40921fefa
12:111856331 SH2B3 C>T	12	111856331	111856331	C	T	SH2B3	c.382C>T	NM_005475.2	NP_005466.1:p.(Arg128Trp)	NC_000012.11:g.111856331C>T	(Likely) benign	1 lab	d40a11516e
4:47944132 CNGA1 C>T	4	47944132	47944132	C	T	CNGA1	c.690G>A	NM_001142564.1	NP_001136036.1:p.(Ser230=)	NC_000004.11:g.47944132C>T	VUS	1 lab	d40b31f1cf
9:98278958 PTCH1 T>TTTC	9	98278958	98278974	T	TTTC	PTCH1	c.142_144dup	NM_001083603.2	NP_001077072.1:p.(Glu48dup)	NC_000009.11:g.98278972_98278974dup	(Likely) benign	1 lab	d40e12856b
1:216166416 USH2A A>T	1	216166416	216166416	A	T	USH2A	c.6751T>A	NM_206933.2	NP_996816.2:p.(Ser2251Thr)	NC_000001.10:g.216166416A>T	VUS	1 lab	d40e28dc18
15:43317171 UBR1 T>C	15	43317171	43317171	T	C	UBR1	c.2595A>G	NM_174916.2	NP_777576.1:p.(Pro865=)	NC_000015.9:g.43317171T>C	(Likely) benign	1 lab	d40fa19053
13:111287067 NAXD C>T	13	111287067	111287067	C	T	NAXD	c.595C>T	NM_018210.3	NP_060680.2:p.(Arg199Trp)	NC_000013.10:g.111287067C>T	VUS	1 lab	d41045f183
5:55206364 IL31RA G>C	5	55206364	55206364	G	C	IL31RA	c.1449G>C	NM_001242638.1	NP_001229567.1:p.(Lys483Asn)	NC_000005.9:g.55206364G>C	(Likely) benign	1 lab	d410a865ad
X:70342088 MED12 C>T	X	70342088	70342088	C	T	MED12	c.1140C>T	NM_005120.2	NP_005111.2:p.(His380=)	NC_000023.10:g.70342088C>T	(Likely) benign	1 lab	d4118cead9
2:55908014 PNPT1 G>A	2	55908014	55908014	G	A	PNPT1	c.493C>T	NM_033109.4	NP_149100.2:p.(Pro165Ser)	NC_000002.11:g.55908014G>A	(Likely) benign	1 lab	d41214f99d
16:29791546 ZG16 T>C	16	29791546	29791546	T	C	ZG16	c.310T>C	NM_152338.3	NP_689551.2:p.(Tyr104His)	NC_000016.9:g.29791546T>C	VUS	1 lab	d4140a1e56
1:39783082 MACF1 G>A	1	39783082	39783082	G	A	MACF1	c.3797+3G>A	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39783082G>A	(Likely) benign	1 lab	d414ad0677
1:214803941 CENPF G>T	1	214803941	214803941	G	T	CENPF	c.1259G>T	NM_016343.3	NP_057427.3:p.(Arg420Ile)	NC_000001.10:g.214803941G>T	VUS	1 lab	d4152559d2
1:235972396 LYST T>C	1	235972396	235972396	T	C	LYST	c.1722A>G	NM_001301365.1	NP_001288294.1:p.(Leu574=)	NC_000001.10:g.235972396T>C	(Likely) benign	1 lab	d415d73fc2
4:79387385 FRAS1 C>T	4	79387385	79387385	C	T	FRAS1	c.7053C>T	NM_025074.7	NP_079350.5:p.(Ile2351=)	NC_000004.11:g.79387385C>T	(Likely) benign	1 lab	d41708569e
15:49030500 CEP152 C>T	15	49030500	49030500	C	T	CEP152	c.5079G>A	NM_001194998.1	NP_001181927.1:p.(Pro1693=)	NC_000015.9:g.49030500C>T	(Likely) benign	1 lab	d4176df32c
5:13737444 DNAH5 G>A	5	13737444	13737444	G	A	DNAH5	c.11372C>T	NM_001369.2	NP_001360.1:p.(Thr3791Ile)	NC_000005.9:g.13737444G>A	(Likely) benign	1 lab	d417a13f8f
X:140994829 MAGEC1 T>C	X	140994829	140994829	T	C	MAGEC1	c.1639T>C	NM_005462.4	NP_005453.2:p.(Tyr547His)	NC_000023.10:g.140994829T>C	(Likely) benign	1 lab	d419711563
20:2411682 TGM6 C>A	20	2411682	2411682	C	A	TGM6	c.1967+9C>A	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2411682C>A	(Likely) benign	1 lab	d419926d63
19:2116676 AP3D1 G>A	19	2116676	2116676	G	A	AP3D1	c.1929C>T	NM_001261826.3	NP_001248755.1:p.(Ala643=)	NC_000019.9:g.2116676G>A	(Likely) benign	1 lab	d419bb2d44
X:135304595 MAP7D3 G>A	X	135304595	135304595	G	A	MAP7D3	c.2139C>T	NM_001173517.1	NP_001166988.1:p.(Asn713=)	NC_000023.10:g.135304595G>A	(Likely) benign	1 lab	d41a06117f
18:77724752 HSBP1L1 C>T	18	77724752	77724752	C	T	HSBP1L1	c.17C>T	NM_001136180.2	NP_001129652.1:p.(Pro6Leu)	NC_000018.9:g.77724752C>T	VUS	1 lab	d41ab699ac
7:92143240 PEX1 A>C	7	92143240	92143240	A	C	PEX1	c.657T>G	NM_001282678.1	NP_001269607.1:p.(His219Gln)	NC_000007.13:g.92143240A>C	(Likely) benign	1 lab	d41addfc92
7:82544945 PCLO G>A	7	82544945	82544945	G	A	PCLO	c.12357C>T	NM_033026.5	NP_149015.2:p.(Tyr4119=)	NC_000007.13:g.82544945G>A	(Likely) benign	1 lab	d41bc2ecd1
3:184039285 EIF4G1 C>T	3	184039285	184039285	C	T	EIF4G1	c.913C>T	NM_182917.4	NP_886553.3:p.(Arg305Cys)	NC_000003.11:g.184039285C>T	(Likely) benign	1 lab	d4217d042e
10:23729412 OTUD1 G>C	10	23729412	23729412	G	C	OTUD1	c.1026G>C	NM_001145373.2	NP_001138845.1:p.(Gln342His)	NC_000010.10:g.23729412G>C	VUS	1 lab	d4228f404b
16:2137874 TSC2 AC>A	16	2137874	2137875	AC	A	TSC2	c.5001del	NM_000548.5	NP_000539.2:p.(Phe1668LeufsTer4)	NC_000016.9:g.2137875del	(Likely) pathogenic	1 lab	d422f35156
7:107580622 LAMB1 G>A	7	107580622	107580622	G	A	LAMB1	c.3573C>T	NM_002291.2	NP_002282.2:p.(Ala1191=)	NC_000007.13:g.107580622G>A	(Likely) benign	1 lab	d4234faa26
15:43893734 STRC G>A	15	43893734	43893734	G	A	STRC	c.4561C>T	NM_153700.2	NP_714544.1:p.(Arg1521Trp)	NC_000015.9:g.43893734G>A	(Likely) benign	1 lab	d4286b7b98
X:153032678 PLXNB3 C>T	X	153032678	153032678	C	T	PLXNB3	c.465C>T	NM_001163257.1	NP_001156729.1:p.(Cys155=)	NC_000023.10:g.153032678C>T	(Likely) benign	1 lab	d4291d1a84
4:187629545 FAT1 A>G	4	187629545	187629545	A	G	FAT1	c.1437T>C	NM_005245.3	NP_005236.2:p.(Gly479=)	NC_000004.11:g.187629545A>G	(Likely) benign	1 lab	d42955b6ad
6:121769005 GJA1 C>T	6	121769005	121769005	C	T	GJA1	c.1012C>T	NM_000165.5	NP_000156.1:p.(Pro338Ser)	NC_000006.11:g.121769005C>T	(Likely) benign	1 lab	d429ab1de8
X:129270685 AIFM1 T>C	X	129270685	129270685	T	C	AIFM1	c.1097A>G	NM_004208.3	NP_004199.1:p.(Asn366Ser)	NC_000023.10:g.129270685T>C	(Likely) benign	1 lab	d42b0df51f
X:135428858 ADGRG4 A>G	X	135428858	135428858	A	G	ADGRG4	c.2993A>G	NM_153834.3	NP_722576.3:p.(Gln998Arg)	NC_000023.10:g.135428858A>G	(Likely) benign	1 lab	d42b245b9c
X:67938428 STARD8 C>T	X	67938428	67938428	C	T	STARD8	c.1672C>T	NM_001142503.2	NP_001135975.1:p.(Arg558Trp)	NC_000023.10:g.67938428C>T	VUS	1 lab	d42be1547a
4:650774 PDE6B G>A	4	650774	650774	G	A	PDE6B	c.1219G>A	NM_000283.3	NP_000274.2:p.(Gly407Arg)	NC_000004.11:g.650774G>A	VUS	1 lab	d42c27606a
X:153664129 ATP6AP1 C>T	X	153664129	153664129	C	T	ATP6AP1	c.1305C>T	NM_001183.5	NP_001174.2:p.(Phe435=)	NC_000023.10:g.153664129C>T	(Likely) benign	1 lab	d42e2afc68
3:15686852 BTD C>T	3	15686852	15686852	C	T	BTD	c.1489C>T	NM_000060.4	NP_000051.1:p.(Pro497Ser)	NC_000003.11:g.15686852C>T	(Likely) pathogenic	1 lab	d42e5f3528
6:109803109 ZBTB24 A>C	6	109803109	109803109	A	C	ZBTB24	c.121T>G	NM_014797.2	NP_055612.2:p.(Leu41Val)	NC_000006.11:g.109803109A>C	VUS	1 lab	d42e9744a5
7:155532651 RBM33 C>T	7	155532651	155532651	C	T	RBM33	c.1980C>T	NM_053043.3	NP_444271.2:p.(His660=)	NC_000007.13:g.155532651C>T	(Likely) benign	1 lab	d42f376b6b
5:167933084 RARS1 A>G	5	167933084	167933084	A	G	RARS1	c.1116A>G	NM_002887.3	NP_002878.2:p.(Pro372=)	NC_000005.9:g.167933084A>G	(Likely) benign	1 lab	d4311953f6
10:121436428 BAG3 C>T	10	121436428	121436428	C	T	BAG3	c.1362C>T	NM_004281.3	NP_004272.2:p.(Ile454=)	NC_000010.10:g.121436428C>T	(Likely) benign	1 lab	d4329a4df3
1:227071580 PSEN2 A>G	1	227071580	227071580	A	G	PSEN2	c.316A>G	NM_000447.2	NP_000438.2:p.(Ile106Val)	NC_000001.10:g.227071580A>G	VUS	1 lab	d433bc2a88
14:105415234 AHNAK2 G>T	14	105415234	105415234	G	T	AHNAK2	c.6554C>A	NM_138420.3	NP_612429.2:p.(Ala2185Asp)	NC_000014.8:g.105415234G>T	(Likely) benign	1 lab	d436807824
7:107204424 COG5 A>C	7	107204424	107204424	A	C	COG5	c.11T>G	NM_001161520.1	NP_001154992.1:p.(Val4Gly)	NC_000007.13:g.107204424A>C	(Likely) benign	1 lab	d43857cf12
1:94033381 BCAR3 C>T	1	94033381	94033381	C	T	BCAR3	c.2002G>A	NM_001261408.1	NP_001248337.1:p.(Ala668Thr)	NC_000001.10:g.94033381C>T	(Likely) benign	1 lab	d43933759e
11:6654044 DCHS1 G>A	11	6654044	6654044	G	A	DCHS1				NC_000011.9:g.6654044G>A	VUS	1 lab	d43a0c80cd
3:37038187 MLH1 G>A	3	37038187	37038187	G	A	MLH1	c.194G>A	NM_000249.3	NP_000240.1:p.(Gly65Asp)	NC_000003.11:g.37038187G>A	(Likely) pathogenic	1 lab	d43a244f28
22:30074288 NF2 TTTCCATGGAGA>T	22	30074288	30074300	TTTCCATGGAGA	T	NF2	c.1552_1562del	NM_000268.4	NP_000259.1:p.(Ser518ArgfsTer20)	NC_000022.10:g.30074290_30074300del	(Likely) pathogenic	1 lab	d43ebaf74e
12:116446671 MED13L G>T	12	116446671	116446671	G	T	MED13L	c.1547C>A	NM_015335.4	NP_056150.1:p.(Ser516Tyr)	NC_000012.11:g.116446671G>T	VUS	1 lab	d4414015ae
9:134388630 POMT1 C>T	9	134388630	134388630	C	T	POMT1	c.991C>T	NM_001353198.1	NP_001340127.1:p.(Gln331Ter)	NC_000009.11:g.134388630C>T	(Likely) pathogenic	1 lab	d442444da9
11:47372875 MYBPC3 C>G	11	47372875	47372875	C	G	MYBPC3	c.207G>C	NM_000256.3	NP_000247.2:p.(Arg69=)	NC_000011.9:g.47372875C>G	(Likely) benign	1 lab	d4433b97f1
9:6610218 GLDC G>A	9	6610218	6610218	G	A	GLDC	c.609C>T	NM_000170.2	NP_000161.2:p.(Ala203=)	NC_000009.11:g.6610218G>A	(Likely) benign	1 lab	d4445402a6
18:6949209 LAMA1 C>T	18	6949209	6949209	C	T	LAMA1	c.8447G>A	NM_005559.3	NP_005550.2:p.(Arg2816Gln)	NC_000018.9:g.6949209C>T	(Likely) benign	1 lab	d447189d8a
X:134988665 SAGE1 A>G	X	134988665	134988665	A	G	SAGE1	c.691A>G	NM_018666.2	NP_061136.2:p.(Asn231Asp)	NC_000023.10:g.134988665A>G	(Likely) benign	1 lab	d44782b737
9:131380030 SPTAN1 G>A	9	131380030	131380030	G	A	SPTAN1	c.5469G>A	NM_001130438.2	NP_001123910.1:p.(Pro1823=)	NC_000009.11:g.131380030G>A	(Likely) benign	1 lab	d447aba4ad
11:120339989 ARHGEF12 A>G	11	120339989	120339989	A	G	ARHGEF12	c.2855-8A>G	NM_015313.2	NP_056128.1:p.?	NC_000011.9:g.120339989A>G	(Likely) benign	1 lab	d449b351cb
X:69595185 KIF4A A>C	X	69595185	69595185	A	C	KIF4A	c.1910A>C	NM_012310.4	NP_036442.3:p.(Asn637Thr)	NC_000023.10:g.69595185A>C	(Likely) benign	1 lab	d44aa368cb
5:149497389 PDGFRB A>G	5	149497389	149497389	A	G	PDGFRB	c.2929T>C	NM_002609.3	NP_002600.1:p.(Phe977Leu)	NC_000005.9:g.149497389A>G	VUS	1 lab	d44c6ab779
X:106093359 TBC1D8B T>C	X	106093359	106093359	T	C	TBC1D8B	c.1942T>C	NM_017752.2	NP_060222.2:p.(Ser648Pro)	NC_000023.10:g.106093359T>C	VUS	1 lab	d44d2d75bb
19:47259013 FKRP G>A	19	47259013	47259013	G	A	FKRP	c.306G>A	NM_001039885.2	NP_001034974.1:p.(Ala102=)	NC_000019.9:g.47259013G>A	(Likely) benign	1 lab	d44d8b6933
X:135323329 MAP7D3 C>T	X	135323329	135323329	C	T	MAP7D3	c.525G>A	NM_001173517.1	NP_001166988.1:p.(Glu175=)	NC_000023.10:g.135323329C>T	(Likely) benign	1 lab	d44e4bcee4
6:109700847 CD164 T>C	6	109700847	109700847	T	C	CD164	c.194A>G	NM_006016.5	NP_006007.2:p.(Asn65Ser)	NC_000006.11:g.109700847T>C	(Likely) benign	1 lab	d44fd2cc39
X:151358340 GABRA3 C>T	X	151358340	151358340	C	T	GABRA3	c.1005G>A	NM_000808.3	NP_000799.1:p.(Ala335=)	NC_000023.10:g.151358340C>T	(Likely) benign	1 lab	d450154a26
1:47753305 STIL T>C	1	47753305	47753305	T	C	STIL	c.1051A>G	NM_001282936.1	NP_001269865.1:p.(Ile351Val)	NC_000001.10:g.47753305T>C	(Likely) benign	1 lab	d451b9c0fa
2:179458339 TTN C>A	2	179458339	179458339	C	A	TTN	c.58688G>T	NM_001267550.1	NP_001254479.1:p.(Ser19563Ile)	NC_000002.11:g.179458339C>A	VUS	1 lab	d451c61f65
14:67390932 GPHN C>T	14	67390932	67390932	C	T	GPHN	c.751C>T	NM_020806.4	NP_065857.1:p.(Pro251Ser)	NC_000014.8:g.67390932C>T	(Likely) benign	1 lab	d4524996dc
2:97779487 ANKRD36 G>A	2	97779487	97779487	G	A	ANKRD36	c.11G>A	NM_001354587.1	NP_001341516.1:p.(Gly4Asp)	NC_000002.11:g.97779487G>A	(Likely) benign	1 lab	d45267d028
9:6644628 GLDC A>C	9	6644628	6644628	A	C	GLDC	c.320T>G	NM_000170.2	NP_000161.2:p.(Met107Arg)	NC_000009.11:g.6644628A>C	(Likely) pathogenic	1 lab	d45288d187
1:9776542 PIK3CD G>A	1	9776542	9776542	G	A	PIK3CD	c.645G>A	NM_005026.3	NP_005017.3:p.(Ala215=)	NC_000001.10:g.9776542G>A	(Likely) benign	1 lab	d45716810f
X:57458442 FAAH2 T>C	X	57458442	57458442	T	C	FAAH2	c.1088T>C	NM_174912.3	NP_777572.2:p.(Met363Thr)	NC_000023.10:g.57458442T>C	(Likely) benign	1 lab	d45a8d12fe
17:78085871 GAA G>C	17	78085871	78085871	G	C	GAA	c.1726G>C	NM_000152.3	NP_000143.2:p.(Gly576Arg)	NC_000017.10:g.78085871G>C	(Likely) pathogenic	1 lab	d45db9a4d4
1:220330777 RAB3GAP2 C>T	1	220330777	220330777	C	T	RAB3GAP2	c.3390G>A	NM_012414.3	NP_036546.2:p.(Ala1130=)	NC_000001.10:g.220330777C>T	(Likely) benign	1 lab	d45f17d2ec
X:31140019 DMD C>T	X	31140019	31140019	C	T	DMD	c.3663G>A	NM_004021.2	NP_004012.1:p.(Met1221Ile)	NC_000023.10:g.31140019C>T	VUS	1 lab	d45f1fec95
4:15539646 CC2D2A T>G	4	15539646	15539646	T	G	CC2D2A	c.1889T>G	NM_001080522.2	NP_001073991.2:p.(Ile630Arg)	NC_000004.11:g.15539646T>G	VUS	1 lab	d462a81ebc
1:151780017 RORC G>A	1	151780017	151780017	G	A	RORC	c.1488C>T	NM_005060.4	NP_005051.2:p.(Ala496=)	NC_000001.10:g.151780017G>A	(Likely) benign	1 lab	d46407e719
18:34205604 FHOD3 G>A	18	34205604	34205604	G	A	FHOD3	c.1088G>A	NM_001281740.2	NP_001268669.1:p.(Arg363His)	NC_000018.9:g.34205604G>A	VUS	1 lab	d465b5087e
3:4714857 ITPR1 C>T	3	4714857	4714857	C	T	ITPR1	c.2197C>T	NM_001168272.1	NP_001161744.1:p.(Arg733Cys)	NC_000003.11:g.4714857C>T	VUS	1 lab	d46864cac6
14:105420661 AHNAK2 C>A	14	105420661	105420661	C	A	AHNAK2	c.1127G>T	NM_138420.3	NP_612429.2:p.(Arg376Met)	NC_000014.8:g.105420661C>A	(Likely) benign	1 lab	d46b6926c7
12:46244670 ARID2 A>G	12	46244670	46244670	A	G	ARID2	c.2764A>G	NM_152641.3	NP_689854.2:p.(Thr922Ala)	NC_000012.11:g.46244670A>G	(Likely) benign	1 lab	d46b9a7f7d
16:57973444 CNGB1 G>T	16	57973444	57973444	G	T	CNGB1	c.1262C>A	NM_001297.4	NP_001288.3:p.(Ala421Asp)	NC_000016.9:g.57973444G>T	VUS	1 lab	d46ee96e81
17:29559138 NF1 G>T	17	29559138	29559138	G	T	NF1	c.3245G>T	NM_000267.3	NP_000258.1:p.(Gly1082Val)	NC_000017.10:g.29559138G>T	(Likely) pathogenic	1 lab	d46f36ea24
16:88930705 PABPN1L G>C	16	88930705	88930705	G	C	PABPN1L	c.737C>G	NM_001080487.2	NP_001073956.2:p.(Ala246Gly)	NC_000016.9:g.88930705G>C	(Likely) benign	1 lab	d46f7d5007
3:123003545 ADCY5 C>T	3	123003545	123003545	C	T	ADCY5	c.3696G>A	NM_183357.2	NP_899200.1:p.(Thr1232=)	NC_000003.11:g.123003545C>T	(Likely) benign	1 lab	d47006d0e3
13:23912624 SACS C>G	13	23912624	23912624	C	G	SACS	c.5391G>C	NM_014363.5	NP_055178.3:p.(Lys1797Asn)	NC_000013.10:g.23912624C>G	(Likely) benign	1 lab	d4702d6de0
14:103395144 AMN G>A	14	103395144	103395144	G	A	AMN	c.345G>A	NM_030943.3	NP_112205.2:p.(Pro115=)	NC_000014.8:g.103395144G>A	(Likely) benign	1 lab	d471fdb9f6
X:129159109 BCORL1 G>A	X	129159109	129159109	G	A	BCORL1	c.3833G>A	NM_021946.4	NP_068765.3:p.(Arg1278His)	NC_000023.10:g.129159109G>A	(Likely) benign	1 lab	d4739a443f
5:78135276 ARSB T>G	5	78135276	78135276	T	G	ARSB	c.1143-27A>C	NM_000046.4	NP_000037.2:p.?	NC_000005.9:g.78135276T>G	(Likely) benign	1 lab	d4742c0bce
19:46879730 PPP5C G>A	19	46879730	46879730	G	A	PPP5C	c.532G>A	NM_006247.3	NP_006238.1:p.(Gly178Arg)	NC_000019.9:g.46879730G>A	VUS	1 lab	d474afe217
7:82763683 PCLO G>A	7	82763683	82763683	G	A	PCLO	c.3183C>T	NM_033026.5	NP_149015.2:p.(Leu1061=)	NC_000007.13:g.82763683G>A	(Likely) benign	1 lab	d47506ab38
16:57790312 KATNB1 G>A	16	57790312	57790312	G	A	KATNB1	c.1763G>A	NM_005886.2	NP_005877.2:p.(Arg588Gln)	NC_000016.9:g.57790312G>A	VUS	1 lab	d47636e8e5
7:117232644 CFTR AT>A	7	117232644	117232646	AT	A	CFTR	c.2425del	NM_000492.4	NP_000483.3:p.(Ser809GlnfsTer12)	NC_000007.13:g.117232646del	(Likely) pathogenic	1 lab	d476943209
21:46927469 COL18A1 T>A	21	46927469	46927469	T	A	COL18A1	c.3208-6T>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46927469T>A	(Likely) benign	1 lab	d478b03948
14:65236390 SPTB A>G	14	65236390	65236390	A	G	SPTB	c.5855T>C	NM_001024858.3	NP_001020029.1:p.(Ile1952Thr)	NC_000014.8:g.65236390A>G	VUS	1 lab	d47b131d48
20:2842708 VPS16 G>A	20	2842708	2842708	G	A	VPS16	c.1003G>A	NM_022575.4	NP_072097.2:p.(Glu335Lys)	NC_000020.10:g.2842708G>A	VUS	1 lab	d47b141922
2:29294069 PCARE T>C	2	29294069	29294069	T	C	PCARE	c.3059A>G	NM_001029883.2	NP_001025054.1:p.(Gln1020Arg)	NC_000002.11:g.29294069T>C	VUS	1 lab	d47cdd601d
17:61781105 STRADA G>A	17	61781105	61781105	G	A	STRADA	c.1150C>T	NM_001003787.3	NP_001003787.1:p.(Arg384Ter)	NC_000017.10:g.61781105G>A	VUS	1 lab	d47d8862be
1:156670737 CRABP2 G>A	1	156670737	156670737	G	A	CRABP2	c.178C>T	NM_001199723.1	NP_001186652.1:p.(Arg60Cys)	NC_000001.10:g.156670737G>A	VUS	1 lab	d481158271
17:29497017 NF1 TAAGTTTAAATGTATAATATATCTGAAAAAAATCACTGGGTCAAAAACTAGTATCATGAATGTACTAATTATATTAATTGTGCTGAACTAGAACACCAAACTGGATTTTATAATGACATTTCCTTGTGAAATAACCAGTAATACAAATGGGTAATTATTTTTCAATCTTTGAAAATAATGCAGTAGAGAAAATGAGCATTTTAAATCTTGGCAATGGAAAGTTTTGCTTAACTACAATTTTTGTTTTCAATACAGAGAATGCAAGGGTGCTATTATTTCATTTTTCTGGAATTTGATCTCTCAAGGGTGGCTATAGGTTATAGAAGCTATCTGTTTAGCTATTGTAGCACTTTACAAAGATTGTCTGTAGTAGGATATCAAAGTTTTATTGCAGAATGGAACGAGGAGATTGTGATGTTATGGTGAGAGGATGAATTGAGCCAGAGATTTCATTTCTGACATTTCTGTTTTCAGCTCTCTACTGACTGACTTTATAGCATTACAAAGTCCCTTAACCTTCCATTGCCGGTTTTGTCTCCTTGTAGAACATGTCAGTAGTAGTTCCACATGGGGATATTATAACACCTAATATGTGACTTTAAAGCTTGGGAAGTACTTTACATGATTATGTGGATTGAAATAAACGATCAGAAGGAATTGAGATATGTTCTGTAGTAAGCAGTGATGTGTTAATGTAAATCAGATACCAATGAGTATTCATAAACTGAGTATGATCTGAAGGAATTGAGATAAATTCTGTGGTAAGCAGTGATGTATTCATGTAAATCAGATATCAATGAATATTCATAAACTGAGTATGAATATCTAAATTTCATTTTACAAAAAAATGTTTTTTAGTTTTTGGCATTATTAGACCCTGGCTAATTTAGATATGAAACCGTATACAGTTCACACATATTTTTATTTGTAACTTAAGGAATTGTCAAACAATAATATTTTTAATATCTGACCTAAAACAGATTGAATTATATTAGCTTCAGAAACATCAGTTCTGCAATGTAGTTTTCAAAATACGTGTTTTTGTTTTCTTAATATTTCCTTTAAACTCAATAACTATCTCACCAGAGATGTAAAAAGGCAATACCTATATAAAGGAATAATATAAAGCTGTGTTCTATTCATATTACCCTTGTTCATAATTTATGATTTTAGGTCATTACCATTGTGAAACCAAGCAACAATTAATTCAGTAACTTTAATAAAGGAAAATATAGGGGTGATTTTAGCTGTTATGCCAAGATACAAACATGTGGACAGCAATTATTTTAGATTATAATAAACCACCATTGAATTAATAGTTGAGATTTGCAAGATTTTGATATCTATTATTAAGCGTTGAGCAGTTGAGAAACTGAATGGTAAAATTTAGAGATCTCTATGAATTAAAGTTAAGAAGTATTAGTGGGATTTTATGATTTTTCATAACTATTCAGTGATGTTTTGGAAACAAGTCTAGTCCAGGTTGCCTGTGAATAGCTGTTTAAAACAATAGAAATGTTCAATCCGTAATAATTAACTGAAATGTCTCTTCTGTCCAAATAAGAGAAACTAATTGAATGTGTGGATAAATGACTTTCTTTTATACTGAAGTAACTTTCCCATCGAATGCGGCTCCCTCATGAACATAAATTTAGAGTATATGCTGATAAATATATAAAGTATAAAACCGATATTAAATAGGCCAGCAAAATATGGCTCTTGGTGACAGTGGTAAAAGGAATGCACCCTTTCAGTAATGAGTAGTAAAGGTAGTAATGTGTTTTAAATACAACTCAACAAGCCTTTGTTGAGAAACTATGTATAAGAAGCCATGCTAAGTGCTGGGATTACAAAAATTAATAAAATATGGAATCTGTCCCTAAGGAGCTCATGGCATGGTTTATGAGACAAGTGATGTCATTATCAAGTTATTTGCAGAAAAAAACTATGATAAACTCAAATAGGGTGAGTGTAAAGTGAGAGAGGAAGTATATATTTGTTTGAGGGGATGAGAGATGAGCAAGATGTGAAGGTACAAGAATAGGTCAGATCATTTTAATAAAAATATGGCCAGGCCTGGTGGCTCACACATGTAATCCCCACACTTTGGGGAAGCCGAGGCAGGAGGATTGCTTGAGCCAGGGCAACATAGAGAGACCCCCATATATACAAAAAAAAATTAGCTGGGTGTGCTGACACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAAGAGGTTGAGGTTGCAGTAAGCTGTGATTGTGCCACTGCATTCCAGCCTGGGTAACAGAGTGAGATCCTGTCTCTGTCTGTCTCTCTGTCTCTCTGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCGATATACCTATCTGTATATAGATATATCAATCGATATGTGTATATCCAGATCTGTCTATAGATATATCTGTATCTTGATAGATATATCGAGAGAGAGAGAGAAACATTTGTTATATTTTCAGTCTGCACCGGGCCTTGCGCTATGCAGTTTGCATGCCTTTTCTCATCAATTCTTACAATAACCCTGTGACGCAATACTAGTATTAATATTATCATCTCTTGTGTAGATGAGGAAACTGAGGCCTCAGTAAATTTTCAAAGTCACAGAGCTAGTAATTGTTCAGTAAAGATTGAGTTCACATCTGCTCGTCTCTAGAACCTAGATACTTGACTGCTGCACTGTTGTGCTTATGAGTTACGAAGCTTTATTTTAGTGGCCCTGGGAAGTGATAGAAAGGCTTTGAGGTAGAGAATACCTTAATCAGTATTTTATTTTAGATATACCCCTTTGCTTGAAATTTGCAGGATGGCTTGGTAGAGGGTTACCTGAACTTCTGGGACTTGGTTATGCAGTAATATAAGTGAAAAATAATGAGAGTTGTGGAGATCCAGATGATGGATTGGGGTAGGGTAAGGATGGGGACCAGTTTGATAGGTATTTAAAGAAGTGGAGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTTAGGCTAAGGTGGGCGGATCACTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCGTCTCCATTAAAAATACAAAAAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGACCATCCTGGCTAACACGGTGAAACACTGTCTCTACTAGAAATACAAAAAATTAGCCAGTCGTAGTGGTGGGCGCCTGTAGTCCCAGCTTCTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGATACTCCGTCTCTAAATAAATAAATAAAATAAAATAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCCATAATCCCAGCTACTCGGGTGGCCGAGGCACAGCAGAATCGCTTGAGCCTGGGAGATGGAGGTTGTAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGACAACAAGACCGAAACTCCATCTAAAAAAAAAAAAAAAGAAATGGAATACATAGCATTTGATAGTCAATTTAGATATATGAGGTTAGAGAGATATCACCAAATATTACAGAATAAGCTGGTTAGAGCAGAAAAGGGAAGGAAAGGTTGATGGCAGAAGAGAGGGTTTGACCAGGAAAATGATAAATTCAGTTTTAGATCTTCTGAGTTTGAGGTATCAGTAGGATGTCCAACAAGAAACTTGTAGAACTGAAAGATACTTTGGCTTTGAGAGTAGATTATGGTATATAACACATTTAAGATGTCATAAAGGTAAAGTTGTTGCTAAAGAGCACTGTGAAGAGTAATGTCATTATTTGGAAATCAGTGGAGGGTGAGAGCAAAGAGAATTCAAAGGGGTACTTTTAAAAACTGATTTGGAGAGTTACTTATTTGCAAGTCCAGAAAAAAGACTCATCTCTCTCTTAGACACTTACATAGATGTAATAAAAACCTTTATCCCTTCATTAAAAGTCAACAGGAGAAGTTCTTTGCCGAGGGACCATTGCCAGTAAAATCGCTTATAGACAGGTCATTTTTTCCAAACATAAATCTTTTTCTAGATGTGGACAATAAACTTAAAGAAGAAGAAATTAAAATACCCAATATATTTATATGGAGAAATGTTTACTGTTACTTGCGTTAAAATGCAGTCTACTATTTTGAACACTCCAATTAGCAAAATAAAGAAAATGAACATACTTTTATGATGACAAAGATAGGATGAAGGCACTTTCGTATGCTGCTTGGTGATAGCAGCATTTGGCCCAACCCTAGTGAAAGGCAGCTTGGTAATCTTTATCAAGGGCCCTAAAAATATTCATCTCTTTGACTGGACACTTCTAGAGATTCCTTATCTTAAATAAGCAGTGATGTGGGAAAAGATGTTGATATGAAAATATTTGTTAATGTTATTTATAATAGTGAAATAACAGAAATAACCTCAGTGTTAAAACTGGAAAACATTAAATAACCAGTCACTTAATACAGTGACTTAAATATTATGAGGGGCATCAAAGCATACTGAAAAGACCTTGGTTTTAAAGCCCAATTCAATCATTTATTAGATCTGTAACCTTAGACACACAGTTTGTTCATCTGTAATACTCTGAAAACATTAAGATTCAAAAAGAATTAAGTGTATCATACTAAAAATACATGATATGTTTTAATAGTTTGTGTAATAGTTACTATTGCATATAGAGCCATCAAAAATAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTACGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCGCACGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCGTGAGCCAAAATTGTGCCATTGCACTCCAGCCTGAGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTTTTACTGATACAGAAATAATTAGGGATACTATGGAAAAGAACAGGTTTGATACAGCTTATATGATCTCAGTTATGTTAAATATATTTGTTTTCTACATGCATAGGAAAAGTGGTAGAAGTAAAACCACCAGATGTTAACTGTGATTGTCTCTGAATGATAGAATCATTGATGGTTTTAAAAATTTCCCATAAACACCTGTGCTTTTGCTTTTTTTTTTTTTTTTTTTTTTTGGACAGAGTCTTGCTCTGTCGCTCAGGCTGGCATGCAGTGACATGATTATAGTACACTGTAGCCTTGAAATCCTGGGCTCAAGCTATCTTCCCACTCCTGCTTTCGAAAGTGCTGAGATTATAGGCGTGAGCCATCGGGCCTGGCCCTGTATATGTTTTCCAAATTTTTTAATTATACTTTAAGTTCTGGGGTACATGTGTAGAACATGCAGGTTTGTTACATAGGTGTCCATGTGCCATGGTGGTTTGCTGCACCCATCAACGCATCATCTACCTTAGGTATTTTTCCTAATGCTATCCCTTACCTCAGCCCCCACCCCCCGACAGGCACCGATGCGTGATGGTCCTCTCCCTGTGTACATGTGTTCTTATGGTTCATCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAAAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACGGGAACTTATCCTTTTCTATGTCAGCATAGTATTCTGTGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGATTGGTTCCAAGTCTTTGCTGTTGTGAACAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGAATGATTTGTAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCTCTCCAGCATCTTTTCTTTCCTGACTTTTTAATGATCGCCATTCTTACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTGTAATGACCAGTGATAATGAGCTTTTCTTTATATGTTTGTTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCATCTACTTTTTAATGGGGTTGTTTGTGTTTTTCTTGTAAATTTAAGTTCTTTGTAGGTTCTGGTTATTAGCCCTTTGTCAGATGGGTAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCCGATGGTAGTTTCTTTTGCTATGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCATTTGTTGTCATTGCTTTTGGTGTTTCAGTCATGAAGTCTTTCCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTCTTTCTAGGGTTTTTATGGTTTTAGGTCTTATGTTTAAGTCTTTAATCTATCTTGAGTTAATTATTGTATAAGGTGTAAGGAAAGGGTCCAGTTTCAGTTTTCTGCATATGGCTAGCCAGTTTTGCCAGTACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTGTTCCATTGGTCTATGTATCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTATAGTTTGAAGTCAGGTAGTGTGATTCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCGTGGTTATGCGGGCTCTTTTCTGGTTTCATATGAAATTTAAAGTAGTTTTTTCTAATTCTGTGAAGAAAGTCAGTGGTAGTTTGATGGGGATAGCATTGAATCTATAAATTGCTTTGGGCAGTACGGCCATTTTCACGATATTGATTCTTCCTATCGATGAGCATGGAATGTTTTTCCGTTTGTTTGTGTCCTCTCTGGCTGGCATCTGGCAGGTGCCCCTCTGGGACAAAGCTTCCAGAGGTAGGAACACGCAGCAATCTTTGTTGTTCCGCAGCCTCTGCTGGTGATACTCTGGCAAACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGCAGCAGAGGGTTCTGCCTGTTAGAAGGAAAACTAAGAAAGGAATAGTATCATCATCAACATCAAAGACCAAAGGTAGATAAATCCACAAAAATGGGAAGAAACCAGTGCAAAAAGGCTGAAAAAAAAACGAGCACGCCTCTTCTCCTCCAAAGGATCACAACTCCTTACCAGCAAAGGAACGAAACTGGACAAAGAATGAGTTTGACAAATTGACAGAAGTAGGCTTCAGAAGATGGGTAATAACAAACTCCTCCAAGCTAAAAGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTGGAAAAAAGGTTAGACGAATTGCTGACTAGAATAACCATCTTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAATACAGCATGAGAACTTCGTGAAGCATACACAAGTATCAATAGCCAAATCAATCAAGCAGAAGAAAGGATATCAGAGATTGAAGATCAACTCAATGAAATAAAGCGAGAAGACAAGATTAGAGAAAAAAGAGTGAAAAGAAATGAACAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACATTTGGTTAGTGTACCTGAAAGTGATGGGGAGGATGGAAAAAGTTGGAAAACACTCTTCAGGATATTAGCAGGAGAACTTCCCCAACCTAGCAAGGCAGGCCAACATTCAAATTCAGGAAATACAGAGAACACTACAAAGATAATCCTCGAGAAGAGCAACCCCAAGACATATAATCGTCAGATTCACCAAGGTTGAAATGAAGGAAAAAATATTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGGGAAGCCCATCAGACTGACAGCAGATCTCTAGGCAGAAACCCTACAAGCCAGAATAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCATCACAGAATTTCATATCCAGGCAAACTAAGCTTCATAAGCGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACTAAGCATGGAAAGGAACAACTGGTACCAACCACTGCAAAAACATAACAAATTGTAAAGACCATCTATGCTGTGAAGAAACTGCATCAACTAATGGGCTAAATAACCAGCTAGCATCATAATAACAAATTCACACATAACACTATTAACCTTAAATGTAAACGGGCTAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCACTGTGCTGTATTCAGGAGACCCATCTCACATGCAAAGTTACACATAGGCTCAAAATAAAGGGTTGGAGGAAGATTTACCAAGCAAATGGAAAGCAAAAAAAAGTAGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAAAAGATCAAAAGAGTCAAAGAAGGGTATTACATAATGGTAAAGAGATCAGTGCAACAACAAGAGCTAACTACCCTAAATATATATGCACCCAATACAGGAACACCCAGATTCATAAAGCAAGTCCTTAGAGACCTACAAAGAGACTTAGACTCCCACACAATAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTTAACAAGGATATCCAGGAGTTGAACTCAGCCCTGCACCAAGTGGACCTAATAGACATCTGCAGAACTCTCCACCCCAAATCAACAGAATGTATATTCTTCTCAGCACCACATTGCACTTATTCCAAAATTGACCACATAATTGGAATACAACACTCCTCAGCAAATGCCAAAGAATGGAAATCATAACAAAGACTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGGAACTCACTCTAAACCACACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGAAGATAACAAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAAAAATACACAACGTACCAAAACCTCTGGGATACATTTATAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAGACCAATAACAAGTTCTGAAATTGAGGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCAGATGGATTCACAGCCAGATTCAGCTAGAGGAGGAGCTGGTACCATTCCTTCTGAAACTATTTCAAACAATAGAAAAAGAGTGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATGGTCATACCAAAACCTGGCAGAGACACAACAACAAGAGAAAATTTTAGGCTGATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATAATGGCAAACTGAATCCAACAAGCACATCAAAAAGCTTGTCCACCATGATCAAGTTGGCTTCATCCCTGGGATGCAAGGCTGGTTTCAACATATGCAAATCAATGAAAGTAATCCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAACTGCTACAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCTAGGAAATAAGAGAGGACACAAATGGAAAACAATTCCATGCTCATGGATAGGAGGAACCAATATCCTGTATGTGTTTTATACTTTTTTTTGAAAAAGCAAGTTATTAAAAGAAAAAGCTCACAATCATTGATGTCCAAGGCATATTTGCTGTTTATGGAATTTTTCTTTCCTAGCAGACAACTATCGAGTTTTGGGTTTATGTTAGGTGTCTTTACCTTTCATTGCTTACAGATAATATTGGAGCAAAAGTAATACGTAAATGGAAAGTTATTTTGCTCTGAGTTGTATTTGTGTTAACTTATTCTAGAGTTAATTTTTAAAAATTGTGTTTTTTCCA>G	17	29497017	29508438	TAAGTTTAAATGTATAATATATCTGAAAAAAATCACTGGGTCAAAAACTAGTATCATGAATGTACTAATTATATTAATTGTGCTGAACTAGAACACCAAACTGGATTTTATAATGACATTTCCTTGTGAAATAACCAGTAATACAAATGGGTAATTATTTTTCAATCTTTGAAAATAATGCAGTAGAGAAAATGAGCATTTTAAATCTTGGCAATGGAAAGTTTTGCTTAACTACAATTTTTGTTTTCAATACAGAGAATGCAAGGGTGCTATTATTTCATTTTTCTGGAATTTGATCTCTCAAGGGTGGCTATAGGTTATAGAAGCTATCTGTTTAGCTATTGTAGCACTTTACAAAGATTGTCTGTAGTAGGATATCAAAGTTTTATTGCAGAATGGAACGAGGAGATTGTGATGTTATGGTGAGAGGATGAATTGAGCCAGAGATTTCATTTCTGACATTTCTGTTTTCAGCTCTCTACTGACTGACTTTATAGCATTACAAAGTCCCTTAACCTTCCATTGCCGGTTTTGTCTCCTTGTAGAACATGTCAGTAGTAGTTCCACATGGGGATATTATAACACCTAATATGTGACTTTAAAGCTTGGGAAGTACTTTACATGATTATGTGGATTGAAATAAACGATCAGAAGGAATTGAGATATGTTCTGTAGTAAGCAGTGATGTGTTAATGTAAATCAGATACCAATGAGTATTCATAAACTGAGTATGATCTGAAGGAATTGAGATAAATTCTGTGGTAAGCAGTGATGTATTCATGTAAATCAGATATCAATGAATATTCATAAACTGAGTATGAATATCTAAATTTCATTTTACAAAAAAATGTTTTTTAGTTTTTGGCATTATTAGACCCTGGCTAATTTAGATATGAAACCGTATACAGTTCACACATATTTTTATTTGTAACTTAAGGAATTGTCAAACAATAATATTTTTAATATCTGACCTAAAACAGATTGAATTATATTAGCTTCAGAAACATCAGTTCTGCAATGTAGTTTTCAAAATACGTGTTTTTGTTTTCTTAATATTTCCTTTAAACTCAATAACTATCTCACCAGAGATGTAAAAAGGCAATACCTATATAAAGGAATAATATAAAGCTGTGTTCTATTCATATTACCCTTGTTCATAATTTATGATTTTAGGTCATTACCATTGTGAAACCAAGCAACAATTAATTCAGTAACTTTAATAAAGGAAAATATAGGGGTGATTTTAGCTGTTATGCCAAGATACAAACATGTGGACAGCAATTATTTTAGATTATAATAAACCACCATTGAATTAATAGTTGAGATTTGCAAGATTTTGATATCTATTATTAAGCGTTGAGCAGTTGAGAAACTGAATGGTAAAATTTAGAGATCTCTATGAATTAAAGTTAAGAAGTATTAGTGGGATTTTATGATTTTTCATAACTATTCAGTGATGTTTTGGAAACAAGTCTAGTCCAGGTTGCCTGTGAATAGCTGTTTAAAACAATAGAAATGTTCAATCCGTAATAATTAACTGAAATGTCTCTTCTGTCCAAATAAGAGAAACTAATTGAATGTGTGGATAAATGACTTTCTTTTATACTGAAGTAACTTTCCCATCGAATGCGGCTCCCTCATGAACATAAATTTAGAGTATATGCTGATAAATATATAAAGTATAAAACCGATATTAAATAGGCCAGCAAAATATGGCTCTTGGTGACAGTGGTAAAAGGAATGCACCCTTTCAGTAATGAGTAGTAAAGGTAGTAATGTGTTTTAAATACAACTCAACAAGCCTTTGTTGAGAAACTATGTATAAGAAGCCATGCTAAGTGCTGGGATTACAAAAATTAATAAAATATGGAATCTGTCCCTAAGGAGCTCATGGCATGGTTTATGAGACAAGTGATGTCATTATCAAGTTATTTGCAGAAAAAAACTATGATAAACTCAAATAGGGTGAGTGTAAAGTGAGAGAGGAAGTATATATTTGTTTGAGGGGATGAGAGATGAGCAAGATGTGAAGGTACAAGAATAGGTCAGATCATTTTAATAAAAATATGGCCAGGCCTGGTGGCTCACACATGTAATCCCCACACTTTGGGGAAGCCGAGGCAGGAGGATTGCTTGAGCCAGGGCAACATAGAGAGACCCCCATATATACAAAAAAAAATTAGCTGGGTGTGCTGACACGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAAGAGGTTGAGGTTGCAGTAAGCTGTGATTGTGCCACTGCATTCCAGCCTGGGTAACAGAGTGAGATCCTGTCTCTGTCTGTCTCTCTGTCTCTCTGTCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCGATATACCTATCTGTATATAGATATATCAATCGATATGTGTATATCCAGATCTGTCTATAGATATATCTGTATCTTGATAGATATATCGAGAGAGAGAGAGAAACATTTGTTATATTTTCAGTCTGCACCGGGCCTTGCGCTATGCAGTTTGCATGCCTTTTCTCATCAATTCTTACAATAACCCTGTGACGCAATACTAGTATTAATATTATCATCTCTTGTGTAGATGAGGAAACTGAGGCCTCAGTAAATTTTCAAAGTCACAGAGCTAGTAATTGTTCAGTAAAGATTGAGTTCACATCTGCTCGTCTCTAGAACCTAGATACTTGACTGCTGCACTGTTGTGCTTATGAGTTACGAAGCTTTATTTTAGTGGCCCTGGGAAGTGATAGAAAGGCTTTGAGGTAGAGAATACCTTAATCAGTATTTTATTTTAGATATACCCCTTTGCTTGAAATTTGCAGGATGGCTTGGTAGAGGGTTACCTGAACTTCTGGGACTTGGTTATGCAGTAATATAAGTGAAAAATAATGAGAGTTGTGGAGATCCAGATGATGGATTGGGGTAGGGTAAGGATGGGGACCAGTTTGATAGGTATTTAAAGAAGTGGAGGCTGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGTTAGGCTAAGGTGGGCGGATCACTGAGGTTAGGAGTTCGAGACCAGCCTGGCCAACATGGGGAAACTCCGTCTCCATTAAAAATACAAAAAATGGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACGAGGTCAGGAGACCATCCTGGCTAACACGGTGAAACACTGTCTCTACTAGAAATACAAAAAATTAGCCAGTCGTAGTGGTGGGCGCCTGTAGTCCCAGCTTCTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTGATACTCCGTCTCTAAATAAATAAATAAAATAAAATAAAAATACAAAAAATTAGCCGGGTGTGGTGGCACGTGCCCATAATCCCAGCTACTCGGGTGGCCGAGGCACAGCAGAATCGCTTGAGCCTGGGAGATGGAGGTTGTAGTGAGCCGAGATCACGCCATTGCACTCCAGCTTGGACAACAAGACCGAAACTCCATCTAAAAAAAAAAAAAAAGAAATGGAATACATAGCATTTGATAGTCAATTTAGATATATGAGGTTAGAGAGATATCACCAAATATTACAGAATAAGCTGGTTAGAGCAGAAAAGGGAAGGAAAGGTTGATGGCAGAAGAGAGGGTTTGACCAGGAAAATGATAAATTCAGTTTTAGATCTTCTGAGTTTGAGGTATCAGTAGGATGTCCAACAAGAAACTTGTAGAACTGAAAGATACTTTGGCTTTGAGAGTAGATTATGGTATATAACACATTTAAGATGTCATAAAGGTAAAGTTGTTGCTAAAGAGCACTGTGAAGAGTAATGTCATTATTTGGAAATCAGTGGAGGGTGAGAGCAAAGAGAATTCAAAGGGGTACTTTTAAAAACTGATTTGGAGAGTTACTTATTTGCAAGTCCAGAAAAAAGACTCATCTCTCTCTTAGACACTTACATAGATGTAATAAAAACCTTTATCCCTTCATTAAAAGTCAACAGGAGAAGTTCTTTGCCGAGGGACCATTGCCAGTAAAATCGCTTATAGACAGGTCATTTTTTCCAAACATAAATCTTTTTCTAGATGTGGACAATAAACTTAAAGAAGAAGAAATTAAAATACCCAATATATTTATATGGAGAAATGTTTACTGTTACTTGCGTTAAAATGCAGTCTACTATTTTGAACACTCCAATTAGCAAAATAAAGAAAATGAACATACTTTTATGATGACAAAGATAGGATGAAGGCACTTTCGTATGCTGCTTGGTGATAGCAGCATTTGGCCCAACCCTAGTGAAAGGCAGCTTGGTAATCTTTATCAAGGGCCCTAAAAATATTCATCTCTTTGACTGGACACTTCTAGAGATTCCTTATCTTAAATAAGCAGTGATGTGGGAAAAGATGTTGATATGAAAATATTTGTTAATGTTATTTATAATAGTGAAATAACAGAAATAACCTCAGTGTTAAAACTGGAAAACATTAAATAACCAGTCACTTAATACAGTGACTTAAATATTATGAGGGGCATCAAAGCATACTGAAAAGACCTTGGTTTTAAAGCCCAATTCAATCATTTATTAGATCTGTAACCTTAGACACACAGTTTGTTCATCTGTAATACTCTGAAAACATTAAGATTCAAAAAGAATTAAGTGTATCATACTAAAAATACATGATATGTTTTAATAGTTTGTGTAATAGTTACTATTGCATATAGAGCCATCAAAAATAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCTACGTGGGCGGATCATGAGGTCAGGAGTTCGAGACCAGCCTGACGAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTAGTGGCGCACGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACGGAGGTTGCGTGAGCCAAAATTGTGCCATTGCACTCCAGCCTGAGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGTTTTTACTGATACAGAAATAATTAGGGATACTATGGAAAAGAACAGGTTTGATACAGCTTATATGATCTCAGTTATGTTAAATATATTTGTTTTCTACATGCATAGGAAAAGTGGTAGAAGTAAAACCACCAGATGTTAACTGTGATTGTCTCTGAATGATAGAATCATTGATGGTTTTAAAAATTTCCCATAAACACCTGTGCTTTTGCTTTTTTTTTTTTTTTTTTTTTTTGGACAGAGTCTTGCTCTGTCGCTCAGGCTGGCATGCAGTGACATGATTATAGTACACTGTAGCCTTGAAATCCTGGGCTCAAGCTATCTTCCCACTCCTGCTTTCGAAAGTGCTGAGATTATAGGCGTGAGCCATCGGGCCTGGCCCTGTATATGTTTTCCAAATTTTTTAATTATACTTTAAGTTCTGGGGTACATGTGTAGAACATGCAGGTTTGTTACATAGGTGTCCATGTGCCATGGTGGTTTGCTGCACCCATCAACGCATCATCTACCTTAGGTATTTTTCCTAATGCTATCCCTTACCTCAGCCCCCACCCCCCGACAGGCACCGATGCGTGATGGTCCTCTCCCTGTGTACATGTGTTCTTATGGTTCATCTCCCACTTATGAGTGAGAACATGTGGTGTTTGGTTTTCTGTTCTTGTGTTTGCTGAAAATGATGGTTTCCAGCTTCATCCATGTCCCTGCAAAGGACGGGAACTTATCCTTTTCTATGTCAGCATAGTATTCTGTGGTGTATATGTGCCACATTTTCTTTATCCAGTCTATCATTGATGGGCATTTGGATTGGTTCCAAGTCTTTGCTGTTGTGAACAGTGCTGCAGTAAACATACGTGTGCATGTGTCTTTATAGCAGAATGATTTGTAATCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTGAGGAATCGCCACACTGTCTTCCACAATGGTTGAACTAATTTACACTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATTCTCTCCAGCATCTTTTCTTTCCTGACTTTTTAATGATCGCCATTCTTACTGGCGTGAGATGGTATCTCATTGTGGTTTTGATTTGCATTTCTGTAATGACCAGTGATAATGAGCTTTTCTTTATATGTTTGTTGTCTTCTTTTGAGAAGTGTCTGTTCATATCCTTCATCTACTTTTTAATGGGGTTGTTTGTGTTTTTCTTGTAAATTTAAGTTCTTTGTAGGTTCTGGTTATTAGCCCTTTGTCAGATGGGTAGATTGCAAAAATTTTCTCCCATTCTGTAGGTTGCCTGTTCACTCCGATGGTAGTTTCTTTTGCTATGCAGAAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCATTTGTTGTCATTGCTTTTGGTGTTTCAGTCATGAAGTCTTTCCCCATGCCTATGTCCTGAATGGTATTGCCTAGGTTTCTTTCTAGGGTTTTTATGGTTTTAGGTCTTATGTTTAAGTCTTTAATCTATCTTGAGTTAATTATTGTATAAGGTGTAAGGAAAGGGTCCAGTTTCAGTTTTCTGCATATGGCTAGCCAGTTTTGCCAGTACCATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTGTCAGGTTTGTCAAAGATCAGATGGTTGTAGATGTGTGGTGTTATTTCTGAGGCCTCTGTTCTGTTCCATTGGTCTATGTATCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTATAGTTTGAAGTCAGGTAGTGTGATTCCTCCAGCTTTGTTCTTTTTGCTTAGGATTGTCGTGGTTATGCGGGCTCTTTTCTGGTTTCATATGAAATTTAAAGTAGTTTTTTCTAATTCTGTGAAGAAAGTCAGTGGTAGTTTGATGGGGATAGCATTGAATCTATAAATTGCTTTGGGCAGTACGGCCATTTTCACGATATTGATTCTTCCTATCGATGAGCATGGAATGTTTTTCCGTTTGTTTGTGTCCTCTCTGGCTGGCATCTGGCAGGTGCCCCTCTGGGACAAAGCTTCCAGAGGTAGGAACACGCAGCAATCTTTGTTGTTCCGCAGCCTCTGCTGGTGATACTCTGGCAAACAGGGTCTGGAGTGGACCTCCAGCAAACTCCAGCAGACCTGCAGCAGAGGGTTCTGCCTGTTAGAAGGAAAACTAAGAAAGGAATAGTATCATCATCAACATCAAAGACCAAAGGTAGATAAATCCACAAAAATGGGAAGAAACCAGTGCAAAAAGGCTGAAAAAAAAACGAGCACGCCTCTTCTCCTCCAAAGGATCACAACTCCTTACCAGCAAAGGAACGAAACTGGACAAAGAATGAGTTTGACAAATTGACAGAAGTAGGCTTCAGAAGATGGGTAATAACAAACTCCTCCAAGCTAAAAGAGCATGTTCTAACCCAATGCAAGGAAGCTAAGAACCTGGAAAAAAGGTTAGACGAATTGCTGACTAGAATAACCATCTTAGAGAAGAACATAAATGACCTGATGGAGCTGAAAAATACAGCATGAGAACTTCGTGAAGCATACACAAGTATCAATAGCCAAATCAATCAAGCAGAAGAAAGGATATCAGAGATTGAAGATCAACTCAATGAAATAAAGCGAGAAGACAAGATTAGAGAAAAAAGAGTGAAAAGAAATGAACAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACATTTGGTTAGTGTACCTGAAAGTGATGGGGAGGATGGAAAAAGTTGGAAAACACTCTTCAGGATATTAGCAGGAGAACTTCCCCAACCTAGCAAGGCAGGCCAACATTCAAATTCAGGAAATACAGAGAACACTACAAAGATAATCCTCGAGAAGAGCAACCCCAAGACATATAATCGTCAGATTCACCAAGGTTGAAATGAAGGAAAAAATATTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCACAAAGGGAAGCCCATCAGACTGACAGCAGATCTCTAGGCAGAAACCCTACAAGCCAGAATAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTCATCACAGAATTTCATATCCAGGCAAACTAAGCTTCATAAGCGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAGGCCTGCCTTACAAGAGCTCCTGAAGGAAGCACTAAGCATGGAAAGGAACAACTGGTACCAACCACTGCAAAAACATAACAAATTGTAAAGACCATCTATGCTGTGAAGAAACTGCATCAACTAATGGGCTAAATAACCAGCTAGCATCATAATAACAAATTCACACATAACACTATTAACCTTAAATGTAAACGGGCTAAATGCCCCAATTAAAAGACACAGACTGGCAAATTGGATAAAGAGTCAAGACCCATCACTGTGCTGTATTCAGGAGACCCATCTCACATGCAAAGTTACACATAGGCTCAAAATAAAGGGTTGGAGGAAGATTTACCAAGCAAATGGAAAGCAAAAAAAAGTAGGGTTGCAATCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAAAAGATCAAAAGAGTCAAAGAAGGGTATTACATAATGGTAAAGAGATCAGTGCAACAACAAGAGCTAACTACCCTAAATATATATGCACCCAATACAGGAACACCCAGATTCATAAAGCAAGTCCTTAGAGACCTACAAAGAGACTTAGACTCCCACACAATAATAATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTTAACAAGGATATCCAGGAGTTGAACTCAGCCCTGCACCAAGTGGACCTAATAGACATCTGCAGAACTCTCCACCCCAAATCAACAGAATGTATATTCTTCTCAGCACCACATTGCACTTATTCCAAAATTGACCACATAATTGGAATACAACACTCCTCAGCAAATGCCAAAGAATGGAAATCATAACAAAGACTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGGAACTCACTCTAAACCACACAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGAAGATAACAAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAATGAGAAAAATACACAACGTACCAAAACCTCTGGGATACATTTATAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGATAAAGCAGGAAAGATCTAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAGAAGCAAGAGCAAACAAATTCAAAAGCTAGCAGAGGACAAGAAATAACTAAGATCAGAGCAGAACTGAAGGAGATAGAGACACGAAAAACCTTTCAAAAAATCAATGAGTCTCCTGACCTCGTGATCCGCCGCCTTGGCCTCAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAATGGCGTGCACCCGGGAGGCAGAGCTTGCAGTGAGCCAGGATCGTGCAACTGCACTCCAACCTGGGCGACAGAGCAAGACTCTGTTTAAAAAAAAAAAAAAATCAATGAATCCAGGAGCTGGTTTTTTGAAAAGATCAACAAAATAAATAGACCACTAGCCAGACTCATAAAGAAGAAAGAGAGGAGAATCAAATAGACGCAATAAAAAATGATAAAAGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTATAAACACCTCTGTGCAAATAAACTAGAAAATCTAGCAGTAATGGATAAATTCCTGGACACATACACCCTCCCAAGACTAAACCAGGAAGAAGTCGAATCCCTGAATAGACCAATAACAAGTTCTGAAATTGAGGCAATAATTAATAGCCTACCAACCAAAAAAAGTCCAGGACCAGATGGATTCACAGCCAGATTCAGCTAGAGGAGGAGCTGGTACCATTCCTTCTGAAACTATTTCAAACAATAGAAAAAGAGTGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATGGTCATACCAAAACCTGGCAGAGACACAACAACAAGAGAAAATTTTAGGCTGATATCCCTGATGAACATCGATGCAAAAATCCTCAATAAAATAATGGCAAACTGAATCCAACAAGCACATCAAAAAGCTTGTCCACCATGATCAAGTTGGCTTCATCCCTGGGATGCAAGGCTGGTTTCAACATATGCAAATCAATGAAAGTAATCCATCACGTAAACAGAACCAATGACAAAAACCACATGATTATCTCAATAGATACAGAAAAGGCCTTTGATGAAATTCAACAGCCCTTCATGCCAAAGACTCTGAATAAACTAGGGATTGATCAAACATATCTCAAAATAATAAGAGCTATTTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGGATTCCCTTTGAAAACTGGCACAAGACAAGGATGCCCTCTCTCACCACTCCTATTCAAACTAATATTGGAAGTTCTGGCCAGGGCAATCAGGCAAGAGAAAGAAATAAAGGGTATTCGGTTAGGAAAAGAGAAAGTCAAATTGCCTCTGTTTGCAGATGACATGGTTGTATGTTTAGAAAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCAATGTGCAAAAATCACAAGCATTCCTATACACCAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAACTGCTACAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCTAGGAAATAAGAGAGGACACAAATGGAAAACAATTCCATGCTCATGGATAGGAGGAACCAATATCCTGTATGTGTTTTATACTTTTTTTTGAAAAAGCAAGTTATTAAAAGAAAAAGCTCACAATCATTGATGTCCAAGGCATATTTGCTGTTTATGGAATTTTTCTTTCCTAGCAGACAACTATCGAGTTTTGGGTTTATGTTAGGTGTCTTTACCTTTCATTGCTTACAGATAATATTGGAGCAAAAGTAATACGTAAATGGAAAGTTATTTTGCTCTGAGTTGTATTTGTGTTAACTTATTCTAGAGTTAATTTTTAAAAATTGTGTTTTTTCCA	G	NF1	c.586_587insGGG	NM_000267.3	NP_000258.1:p.(Lys195_Glu196insGly)	NC_000017.10:g.29497017_29508438delinsG	(Likely) pathogenic	1 lab	d481579d12
7:144098652 NOBOX C>T	7	144098652	144098652	C	T	NOBOX	c.331G>A	NM_001080413.3	NP_001073882.3:p.(Gly111Arg)	NC_000007.13:g.144098652C>T	(Likely) benign	1 lab	d481cf028d
2:179604020 TTN T>C	2	179604020	179604020	T	C	TTN	c.13940A>G	NM_001267550.1	NP_001254479.1:p.(Asp4647Gly)	NC_000002.11:g.179604020T>C	VUS	1 lab	d48218d17a
1:156106993 LMNA G>T	1	156106993	156106993	G	T	LMNA				NC_000001.10:g.156106993G>T	(Likely) benign	1 lab	d482e1999f
2:178257565 AGPS C>T	2	178257565	178257565	C	T	AGPS	c.48C>T	NM_003659.3	NP_003650.1:p.(Gly16=)	NC_000002.11:g.178257565C>T	(Likely) benign	1 lab	d482f50a6d
2:47702102 MSH2 G>A	2	47702102	47702102	G	A	MSH2	c.1760-62G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702102G>A	(Likely) benign	1 lab	ffc084ed35
17:80861345 TBCD G>A	17	80861345	80861345	G	A	TBCD	c.1795G>A	NM_005993.4	NP_005984.3:p.(Ala599Thr)	NC_000017.10:g.80861345G>A	(Likely) benign	1 lab	d4873ce755
13:28644720 FLT3 T>C	13	28644720	28644720	T	C	FLT3	c.73A>G	NM_004119.2	NP_004110.2:p.(Ile25Val)	NC_000013.10:g.28644720T>C	(Likely) benign	1 lab	d488d735a0
20:49510342 ADNP C>T	20	49510342	49510342	C	T	ADNP	c.909G>A	NM_001282531.2	NP_001269460.1:p.(Met303Ile)	NC_000020.10:g.49510342C>T	(Likely) benign	1 lab	d4895f7a46
11:47355175 MYBPC3 G>A	11	47355175	47355175	G	A	MYBPC3	c.3123C>T	NM_000256.3	NP_000247.2:p.(Gly1041=)	NC_000011.9:g.47355175G>A	VUS	1 lab	d48a421241
19:5699091 LONP1 G>A	19	5699091	5699091	G	A	LONP1	c.1632C>T	NM_004793.3	NP_004784.2:p.(Tyr544=)	NC_000019.9:g.5699091G>A	(Likely) benign	1 lab	d48c05dd5b
19:879959 MED16 A>C	19	879959	879959	A	C	MED16	c.1331T>G	NM_005481.3	NP_005472.2:p.(Val444Gly)	NC_000019.9:g.879959A>C	VUS	1 lab	d48ccbf04e
X:19713827 SH3KBP1 G>A	X	19713827	19713827	G	A	SH3KBP1	c.423C>T	NM_001353891.1	NP_001340820.1:p.(Asn141=)	NC_000023.10:g.19713827G>A	(Likely) benign	1 lab	d48e0b382e
17:40695253 NAGLU T>C	17	40695253	40695253	T	C	NAGLU	c.1229T>C	NM_000263.3	NP_000254.2:p.(Phe410Ser)	NC_000017.10:g.40695253T>C	VUS	1 lab	d48e4ea051
3:139069024 MRPS22 C>T	3	139069024	139069024	C	T	MRPS22	c.508C>T	NM_020191.3	NP_064576.1:p.(Arg170Cys)	NC_000003.11:g.139069024C>T	VUS	1 lab	d48febb8c9
8:145001853 PLEC C>T	8	145001853	145001853	C	T	PLEC	c.3892G>A	NM_201380.3	NP_958782.1:p.(Glu1298Lys)	NC_000008.10:g.145001853C>T	(Likely) benign	1 lab	d491806e12
17:40716480 COASY C>T	17	40716480	40716480	C	T	COASY	c.932C>T	NM_025233.6	NP_079509.5:p.(Ala311Val)	NC_000017.10:g.40716480C>T	(Likely) benign	1 lab	d4936827d3
4:38798249 TLR1 G>A	4	38798249	38798249	G	A	TLR1	c.2204C>T	NM_003263.3	NP_003254.2:p.(Pro735Leu)	NC_000004.11:g.38798249G>A	VUS	1 lab	d494c3e45f
14:23855338 MYH6 G>A	14	23855338	23855338	G	A	MYH6	c.4962C>T	NM_002471.3	NP_002462.2:p.(Asp1654=)	NC_000014.8:g.23855338G>A	(Likely) benign	1 lab	d49567d28a
19:36279279 ARHGAP33 C>G	19	36279279	36279279	C	G	ARHGAP33	c.3812C>G	NM_001366178.1	NP_001353107.1:p.(Pro1271Arg)	NC_000019.9:g.36279279C>G	(Likely) benign	1 lab	d4957346a6
6:152631860 SYNE1 A>G	6	152631860	152631860	A	G	SYNE1	c.16859T>C	NM_182961.3	NP_892006.3:p.(Ile5620Thr)	NC_000006.11:g.152631860A>G	VUS	1 lab	d4980a4ace
9:103060229 INVS G>A	9	103060229	103060229	G	A	INVS	c.2740G>A	NM_001318381.1	NP_001305310.1:p.(Glu914Lys)	NC_000009.11:g.103060229G>A	(Likely) benign	1 lab	d4995bf2c0
20:31024462 ASXL1 GC>TT	20	31024462	31024463	GC	TT	ASXL1	c.3947_3948delinsTT	NM_015338.5	NP_056153.2:p.(Arg1316Leu)	NC_000020.10:g.31024462_31024463delinsTT	VUS	1 lab	d4996a448c
X:37932860 SYTL5 A>G	X	37932860	37932860	A	G	SYTL5	c.463A>G	NM_001163335.1	NP_001156807.1:p.(Ser155Gly)	NC_000023.10:g.37932860A>G	(Likely) benign	1 lab	d499ab5086
10:73537644 CDH23 A>G	10	73537644	73537644	A	G	CDH23	c.5053A>G	NM_022124.5	NP_071407.4:p.(Ile1685Val)	NC_000010.10:g.73537644A>G	VUS	1 lab	d49a571bf8
10:135020796 KNDC1 G>C	10	135020796	135020796	G	C	KNDC1	c.3735G>C	NM_152643.7	NP_689856.6:p.(Gln1245His)	NC_000010.10:g.135020796G>C	VUS	1 lab	d49bf8c76e
1:179057056 TOR3A T>G	1	179057056	179057056	T	G	TOR3A	c.650T>G	NM_022371.4	NP_071766.2:p.(Met217Arg)	NC_000001.10:g.179057056T>G	(Likely) benign	1 lab	d49c53c123
X:135405379 ADGRG4 T>C	X	135405379	135405379	T	C	ADGRG4	c.513T>C	NM_153834.3	NP_722576.3:p.(Val171=)	NC_000023.10:g.135405379T>C	(Likely) benign	1 lab	d4a231e0c6
19:55672055 DNAAF3 A>G	19	55672055	55672055	A	G	DNAAF3	c.1205T>C	NM_001256714.1	NP_001243643.1:p.(Leu402Pro)	NC_000019.9:g.55672055A>G	(Likely) benign	1 lab	d4a24064cf
6:28350388 ZSCAN12 T>G	6	28350388	28350388	T	G	ZSCAN12	n.1874-2A>C	NR_028077.1		NC_000006.11:g.28350388T>G	(Likely) benign	1 lab	29883f0ea2
X:135829755 ARHGEF6 T>C	X	135829755	135829755	T	C	ARHGEF6	c.250-4A>G	NM_004840.2	NP_004831.1:p.?	NC_000023.10:g.135829755T>C	(Likely) benign	1 lab	d4a25994d1
11:610578 PHRF1 G>A	11	610578	610578	G	A	PHRF1	c.4491G>A	NM_020901.3	NP_065952.2:p.(Thr1497=)	NC_000011.9:g.610578G>A	(Likely) benign	1 lab	d4a334ffa9
16:2124215 TSC2 C>A	16	2124215	2124215	C	A	TSC2	c.2370C>A	NM_000548.3	NP_000539.2:p.(Tyr790Ter)	NC_000016.9:g.2124215C>A	(Likely) pathogenic	1 lab	d4a3e53797
4:73957707 ANKRD17 A>G	4	73957707	73957707	A	G	ANKRD17	c.5638T>C	NM_032217.4	NP_115593.3:p.(Ser1880Pro)	NC_000004.11:g.73957707A>G	VUS	1 lab	d4a5cc0ca1
10:16960809 CUBN G>A	10	16960809	16960809	G	A	CUBN	c.6822-10C>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16960809G>A	(Likely) benign	1 lab	d4af76fb32
22:36692977 MYH9 C>G	22	36692977	36692977	C	G	MYH9	c.3184G>C	NM_002473.5	NP_002464.1:p.(Asp1062His)	NC_000022.10:g.36692977C>G	VUS	1 lab	d4b2a9f06f
9:104319756 RNF20 C>T	9	104319756	104319756	C	T	RNF20	c.2260C>T	NM_019592.6	NP_062538.5:p.(Arg754Trp)	NC_000009.11:g.104319756C>T	VUS	1 lab	d4b3dba79e
X:153583271 FLNA C>T	X	153583271	153583271	C	T	FLNA	c.5139G>A	NM_001110556.2	NP_001104026.1:p.(Thr1713=)	NC_000023.10:g.153583271C>T	VUS	1 lab	d4b3e87503
9:135802593 TSC1 CAT>C	9	135802593	135802595	CAT	C	TSC1	c.203_204del	NM_000368.5	NP_000359.1:p.(His68ArgfsTer9)	NC_000009.11:g.135802594_135802595del	(Likely) pathogenic	1 lab	d4b3eaafbb
6:152554978 SYNE1 T>C	6	152554978	152554978	T	C	SYNE1	c.20650A>G	NM_182961.3	NP_892006.3:p.(Ile6884Val)	NC_000006.11:g.152554978T>C	(Likely) benign	1 lab	d4b5577d85
10:135106550 TUBGCP2 G>A	10	135106550	135106550	G	A	TUBGCP2	c.1101C>T	NM_001256617.1	NP_001243546.1:p.(Ala367=)	NC_000010.10:g.135106550G>A	(Likely) benign	1 lab	d4b59150a3
5:75008688 POC5 C>T	5	75008688	75008688	C	T	POC5	c.75G>A	NM_001099271.1	NP_001092741.1:p.(Ser25=)	NC_000005.9:g.75008688C>T	(Likely) benign	1 lab	d4b6dfff67
13:110862303 COL4A1 G>A	13	110862303	110862303	G	A	COL4A1	c.615+24C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110862303G>A	(Likely) benign	1 lab	d4b727d3ee
X:1424523 CSF2RA G>A	X	1424523	1424523	G	A	CSF2RA	c.1128G>A	NM_001161531.1	NP_001155003.1:p.(Met376Ile)	NC_000023.10:g.1424523G>A	(Likely) benign	1 lab	d4b8f1d704
20:42747200 JPH2 C>T	20	42747200	42747200	C	T	JPH2	c.1233G>A	NM_020433.4	NP_065166.2:p.(Glu411=)	NC_000020.10:g.42747200C>T	(Likely) benign	1 lab	d4bb650754
3:11067221 SLC6A1 C>T	3	11067221	11067221	C	T	SLC6A1	c.801C>T	NM_003042.3	NP_003033.3:p.(Gly267=)	NC_000003.11:g.11067221C>T	(Likely) benign	1 lab	d4bc5a646a
2:166903297 SCN1A G>T	2	166903297	166903297	G	T	SCN1A	c.1360C>A	NM_001165963.2	NP_001159435.1:p.(Gln454Lys)	NC_000002.11:g.166903297G>T	VUS	1 lab	d4bd114076
12:39725496 KIF21A T>C	12	39725496	39725496	T	C	KIF21A	c.3149A>G	NM_001173464.1	NP_001166935.1:p.(Asn1050Ser)	NC_000012.11:g.39725496T>C	(Likely) benign	1 lab	d4bf85d725
19:7504871 ARHGEF18 T>A	19	7504871	7504871	T	A	ARHGEF18	c.-118T>A	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7504871T>A	(Likely) benign	1 lab	d4bfef6e12
X:25031659 ARX CGCGGCCGCGGCTGCCGCG>C	X	25031659	25031683	CGCGGCCGCGGCTGCCGCG	C	ARX	c.435_452del	NM_139058.3	NP_620689.1:p.(Ala150_Ala155del)	NC_000023.10:g.25031666_25031683del	(Likely) benign	1 lab	d4c07bf328
14:20811826 PARP2 C>A	14	20811826	20811826	C	A	PARP2	c.26C>A	NM_005484.3	NP_005475.2:p.(Thr9Asn)	NC_000014.8:g.20811826C>A	(Likely) benign	1 lab	d4c277439d
X:74289163 ABCB7 C>T	X	74289163	74289163	C	T	ABCB7	c.1492G>A	NM_001271696.2	NP_001258625.1:p.(Gly498Arg)	NC_000023.10:g.74289163C>T	VUS	1 lab	d4c33fb5ae
14:54416990 BMP4 T>C	14	54416990	54416990	T	C	BMP4	c.987A>G	NM_001347916.1	NP_001334845.1:p.(Pro329=)	NC_000014.8:g.54416990T>C	VUS	1 lab	d4c552875a
5:70798525 BDP1 T>A	5	70798525	70798525	T	A	BDP1	c.2148T>A	NM_018429.2	NP_060899.2:p.(Gly716=)	NC_000005.9:g.70798525T>A	(Likely) benign	1 lab	d4c55d485c
X:120009221 CT47B1 C>G	X	120009221	120009221	C	G	CT47B1	c.304G>C	NM_001145718.1	NP_001139190.1:p.(Glu102Gln)	NC_000023.10:g.120009221C>G	(Likely) benign	1 lab	d4c75f4d8e
9:139412698 NOTCH1 G>A	9	139412698	139412698	G	A	NOTCH1	c.1146C>T	NM_017617.5	NP_060087.3:p.(Asn382=)	NC_000009.11:g.139412698G>A	(Likely) benign	1 lab	d4c7947eb2
14:24572811 PCK2 C>T	14	24572811	24572811	C	T	PCK2	c.1159C>T	NM_001308054.1	NP_001294983.1:p.(Arg387Cys)	NC_000014.8:g.24572811C>T	VUS	1 lab	d4c89976e0
10:68040221 CTNNA3 A>C	10	68040221	68040221	A	C	CTNNA3	c.1884+7T>G	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.68040221A>C	(Likely) benign	1 lab	d4cacfbcaf
12:81009984 MISSING C>T	12	81009984	81009984	C	T	MISSING				NC_000012.11:g.81009984C>T	(Likely) benign	1 lab	d4cb3f8c40
3:56779249 ARHGEF3 T>G	3	56779249	56779249	T	G	ARHGEF3	c.872A>C	NM_001128616.1	NP_001122088.1:p.(Gln291Pro)	NC_000003.11:g.56779249T>G	(Likely) benign	1 lab	d4d077a959
2:234676922 UGT1A1 AGCATAT>A	2	234676922	234676931	AGCATAT	A	UGT1A1	c.1145_1150del	NM_000463.3	NP_000454.1:p.(Ile382_Cys383del)	NC_000002.11:g.234676926_234676931del	(Likely) pathogenic	1 lab	d4d32b6836
15:93528836 CHD2 C>T	15	93528836	93528836	C	T	CHD2	c.3346C>T	NM_001271.3	NP_001262.3:p.(Arg1116Cys)	NC_000015.9:g.93528836C>T	VUS	1 lab	d4d38943a0
X:71360536 NHSL2 C>T	X	71360536	71360536	C	T	NHSL2	c.3138C>T	NM_001013627.2	NP_001013649.2:p.(Pro1046=)	NC_000023.10:g.71360536C>T	(Likely) benign	1 lab	d4d3b70136
7:117243708 CFTR T>C	7	117243708	117243708	T	C	CFTR	c.2780T>C	NM_000492.3	NP_000483.3:p.(Leu927Pro)	NC_000007.13:g.117243708T>C	(Likely) pathogenic	1 lab	d4d3dc6fb0
5:74035829 GFM2 C>T	5	74035829	74035829	C	T	GFM2	c.1160G>A	NM_001281302.1	NP_001268231.1:p.(Arg387His)	NC_000005.9:g.74035829C>T	VUS	1 lab	d4d4ca1e07
20:10626090 JAG1 CA>C	20	10626090	10626091	CA	C	JAG1	c.2026del	NM_000214.3	NP_000205.1:p.(Cys676AlafsTer67)	NC_000020.10:g.10626091del	(Likely) pathogenic	1 lab	d4d53ff593
1:114640393 SYT6 C>T	1	114640393	114640393	C	T	SYT6	c.1216G>A	NM_001270805.1	NP_001257734.1:p.(Ala406Thr)	NC_000001.10:g.114640393C>T	(Likely) benign	1 lab	d4d58a5798
17:29576105 NF1 C>T	17	29576105	29576105	C	T	NF1	c.4078C>T	NM_000267.3	NP_000258.1:p.(Gln1360Ter)	NC_000017.10:g.29576105C>T	(Likely) pathogenic	1 lab	d4d598840a
1:228481122 OBSCN C>T	1	228481122	228481122	C	T	OBSCN	c.12223C>T	NM_001271223.2	NP_001258152.2:p.(Arg4075Trp)	NC_000001.10:g.228481122C>T	(Likely) benign	1 lab	d4d67e0828
1:100949960 CDC14A A>G	1	100949960	100949960	A	G	CDC14A	c.1090A>G	NM_001319210.1	NP_001306139.1:p.(Ile364Val)	NC_000001.10:g.100949960A>G	(Likely) benign	1 lab	d4d7e9490e
6:76623846 MYO6 G>A	6	76623846	76623846	G	A	MYO6	c.3506G>A	NM_004999.3	NP_004990.3:p.(Arg1169His)	NC_000006.11:g.76623846G>A	VUS	1 lab	d4d80d4b81
9:100194394 TDRD7 A>G	9	100194394	100194394	A	G	TDRD7	c.437A>G	NM_014290.2	NP_055105.2:p.(Lys146Arg)	NC_000009.11:g.100194394A>G	VUS	1 lab	d4db320db4
8:144803222 MAPK15 G>A	8	144803222	144803222	G	A	MAPK15	c.970G>A	NM_139021.3	NP_620590.2:p.(Ala324Thr)	NC_000008.10:g.144803222G>A	(Likely) benign	1 lab	d4dc536006
4:15597733 CC2D2A A>C	4	15597733	15597733	A	C	CC2D2A	c.4340A>C	NM_001080522.2	NP_001073991.2:p.(Glu1447Ala)	NC_000004.11:g.15597733A>C	VUS	1 lab	d4e1af0dfb
2:60688739 BCL11A G>A	2	60688739	60688739	G	A	BCL11A	c.1308C>T	NM_022893.3	NP_075044.2:p.(Val436=)	NC_000002.11:g.60688739G>A	(Likely) benign	1 lab	d4e206d7f0
13:52518306 ATP7B C>T	13	52518306	52518306	C	T	ATP7B	c.3182G>A	NM_000053.3	NP_000044.2:p.(Gly1061Glu)	NC_000013.10:g.52518306C>T	VUS	1 lab	d4e302b0ee
17:1629092 WDR81 C>T	17	1629092	1629092	C	T	WDR81	c.839C>T	NM_001163809.1	NP_001157281.1:p.(Ala280Val)	NC_000017.10:g.1629092C>T	VUS	1 lab	d4e79c2e41
X:153588362 FLNA G>A	X	153588362	153588362	G	A	FLNA	c.3801C>T	NM_001110556.2	NP_001104026.1:p.(Gly1267=)	NC_000023.10:g.153588362G>A	VUS	1 lab	d4e7af48ac
19:39214896 ACTN4 G>T	19	39214896	39214896	G	T	ACTN4	c.1792G>T	NM_004924.5	NP_004915.2:p.(Ala598Ser)	NC_000019.9:g.39214896G>T	VUS	1 lab	d4e7d529a9
17:29661865 NF1 T>A	17	29661865	29661865	T	A	NF1	c.5759T>A	NM_000267.3	NP_000258.1:p.(Leu1920Ter)	NC_000017.10:g.29661865T>A	(Likely) pathogenic	1 lab	d4e88cab17
7:48311598 ABCA13 A>C	7	48311598	48311598	A	C	ABCA13	c.2335A>C	NM_152701.4	NP_689914.3:p.(Lys779Gln)	NC_000007.13:g.48311598A>C	(Likely) benign	1 lab	d4e8cb7a0d
X:135333487 MAP7D3 C>G	X	135333487	135333487	C	G	MAP7D3	c.31G>C	NM_001173517.1	NP_001166988.1:p.(Gly11Arg)	NC_000023.10:g.135333487C>G	VUS	1 lab	d4e9993e8e
9:139393342 NOTCH1 C>T	9	139393342	139393342	C	T	NOTCH1	c.6180+9G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139393342C>T	(Likely) benign	1 lab	d4ea9b44b2
5:127697436 FBN2 G>A	5	127697436	127697436	G	A	FBN2	c.2534C>T	NM_001999.3	NP_001990.2:p.(Thr845Ile)	NC_000005.9:g.127697436G>A	(Likely) benign	1 lab	d4ebc90f82
12:15784598 EPS8 T>G	12	15784598	15784598	T	G	EPS8	c.1822A>C	NM_004447.5	NP_004438.3:p.(Lys608Gln)	NC_000012.11:g.15784598T>G	VUS	1 lab	d4ef95a0d6
15:89760466 RLBP1 C>T	15	89760466	89760466	C	T	RLBP1	c.231G>A	NM_000326.4	NP_000317.1:p.(Gly77=)	NC_000015.9:g.89760466C>T	(Likely) benign	1 lab	d4f0127372
14:105418272 AHNAK2 C>G	14	105418272	105418272	C	G	AHNAK2	c.3516G>C	NM_138420.3	NP_612429.2:p.(Ser1172=)	NC_000014.8:g.105418272C>G	(Likely) benign	1 lab	d4f0db5e77
1:43905359 SZT2 C>T	1	43905359	43905359	C	T	SZT2	c.6790C>T	NM_015284.3	NP_056099.3:p.(Pro2264Ser)	NC_000001.10:g.43905359C>T	(Likely) benign	1 lab	d4f31e0b94
2:200173312 SATB2 T>C	2	200173312	200173312	T	C	SATB2	c.1740+171A>G	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200173312T>C	(Likely) benign	1 lab	d4f37171bf
6:56479229 DST T>C	6	56479229	56479229	T	C	DST	c.4884A>G	NM_001144769.2	NP_001138241.1:p.(Gln1628=)	NC_000006.11:g.56479229T>C	(Likely) benign	1 lab	d4f3ed21ef
1:19228963 ALDH4A1 C>G	1	19228963	19228963	C	G	ALDH4A1	c.55G>C	NM_003748.4	NP_003739.2:p.(Gly19Arg)	NC_000001.10:g.19228963C>G	(Likely) benign	1 lab	d4f462e66b
X:49105360 CCDC22 G>A	X	49105360	49105360	G	A	CCDC22	c.1514G>A	NM_014008.4	NP_054727.1:p.(Arg505Gln)	NC_000023.10:g.49105360G>A	VUS	1 lab	d4f564d34a
6:31604044 PRRC2A T>G	6	31604044	31604044	T	G	PRRC2A	c.5683T>G	NM_004638.3	NP_004629.3:p.(Leu1895Val)	NC_000006.11:g.31604044T>G	(Likely) benign	1 lab	d4f96cdbb3
2:179596486 TTN C>T	2	179596486	179596486	C	T	TTN	c.17116G>A	NM_001267550.1	NP_001254479.1:p.(Glu5706Lys)	NC_000002.11:g.179596486C>T	VUS	1 lab	d4f9b1eb9e
X:149638754 MAMLD1 C>T	X	149638754	149638754	C	T	MAMLD1	c.909C>T	NM_005491.4	NP_005482.2:p.(His303=)	NC_000023.10:g.149638754C>T	(Likely) benign	1 lab	d4fa434c56
X:119005069 RNF113A T>C	X	119005069	119005069	T	C	RNF113A	c.508A>G	NM_006978.2	NP_008909.1:p.(Met170Val)	NC_000023.10:g.119005069T>C	(Likely) benign	1 lab	d4fbdc38f1
X:138643751 F9 C>T	X	138643751	138643751	C	T	F9	c.907C>T	NM_000133.3	NP_000124.1:p.(His303Tyr)	NC_000023.10:g.138643751C>T	(Likely) benign	1 lab	d4fc65cb37
5:6602571 NSUN2 T>TA	5	6602571	6602572	T	TA	NSUN2	c.1997+2dup	NM_017755.5	NP_060225.4:p.?	NC_000005.9:g.6602572dup	(Likely) pathogenic	1 lab	d4fc6cc7b4
7:138564277 KIAA1549 C>T	7	138564277	138564277	C	T	KIAA1549	c.4345+7G>A	NM_001164665.1	NP_001158137.1:p.?	NC_000007.13:g.138564277C>T	(Likely) benign	1 lab	d4fe23d900
2:166767913 TTC21B C>G	2	166767913	166767913	C	G	TTC21B	c.2385G>C	NM_024753.4	NP_079029.3:p.(Leu795=)	NC_000002.11:g.166767913C>G	(Likely) benign	1 lab	d500833366
8:38287212 FGFR1 C>T	8	38287212	38287212	C	T	FGFR1	c.322G>A	NM_001174064.1	NP_001167535.1:p.(Val108Ile)	NC_000008.10:g.38287212C>T	(Likely) benign	1 lab	d5019cecbc
X:66765488 AR TG>T	X	66765488	66765491	TG	T	AR	c.503del	NM_000044.6	NP_000035.2:p.(Gly168AlafsTer7)	NC_000023.10:g.66765491del	(Likely) pathogenic	1 lab	d5022eea2b
20:35125457 DLGAP4 G>T	20	35125457	35125457	G	T	DLGAP4	c.1998G>T	NM_014902.5	NP_055717.2:p.(Ser666=)	NC_000020.10:g.35125457G>T	(Likely) benign	1 lab	d5067d94bb
2:152531042 NEB G>A	2	152531042	152531042	G	A	NEB	c.3936C>T	NM_001271208.1	NP_001258137.1:p.(Gly1312=)	NC_000002.11:g.152531042G>A	(Likely) benign	1 lab	d5076a1aea
11:130060590 ST14 G>A	11	130060590	130060590	G	A	ST14	c.875+1G>A	NM_021978.3	NP_068813.1:p.?	NC_000011.9:g.130060590G>A	(Likely) pathogenic	1 lab	d507e287f7
1:110613055 ALX3 G>A	1	110613055	110613055	G	A	ALX3	c.180C>T	NM_006492.3	NP_006483.2:p.(Tyr60=)	NC_000001.10:g.110613055G>A	(Likely) benign	1 lab	d50927de4d
14:74726342 VSX2 G>A	14	74726342	74726342	G	A	VSX2	c.617G>A	NM_182894.2	NP_878314.1:p.(Arg206Gln)	NC_000014.8:g.74726342G>A	VUS	1 lab	d509e5f44c
4:981596 IDUA G>GC	4	981596	981602	G	GC	IDUA	c.164dup	NM_000203.5	NP_000194.2:p.(Leu56AlafsTer7)	NC_000004.11:g.981602dup	(Likely) pathogenic	1 lab	d50b9c50cf
8:25261105 DOCK5 G>A	8	25261105	25261105	G	A	DOCK5	c.4958G>A	NM_024940.7	NP_079216.4:p.(Arg1653His)	NC_000008.10:g.25261105G>A	VUS	1 lab	d50bf644c5
14:105417144 AHNAK2 A>G	14	105417144	105417144	A	G	AHNAK2	c.4644T>C	NM_138420.3	NP_612429.2:p.(Ala1548=)	NC_000014.8:g.105417144A>G	(Likely) benign	1 lab	d50c9e49db
8:48842452 PRKDC A>G	8	48842452	48842452	A	G	PRKDC	c.2013T>C	NM_006904.6	NP_008835.5:p.(Ser671=)	NC_000008.10:g.48842452A>G	(Likely) benign	1 lab	d50eff1333
X:13787218 OFD1 C>G	X	13787218	13787218	C	G	OFD1	c.2610C>G	NM_001330210.1	NP_001317139.1:p.(Asp870Glu)	NC_000023.10:g.13787218C>G	VUS	1 lab	d50f24c824
20:422249 TBC1D20 G>C	20	422249	422249	G	C	TBC1D20	c.609C>G	NM_144628.3	NP_653229.1:p.(Leu203=)	NC_000020.10:g.422249G>C	(Likely) benign	1 lab	d50fb52bad
X:153579420 FLNA A>C	X	153579420	153579420	A	C	FLNA	c.7024-11T>G	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153579420A>C	(Likely) benign	1 lab	d50fb770bf
5:140810421 PCDHGA12 G>A	5	140810421	140810421	G	A	PCDHGA12	c.95G>A	NM_003735.3	NP_003726.1:p.(Arg32His)	NC_000005.9:g.140810421G>A	(Likely) benign	1 lab	d51102a844
X:44732846 KDM6A G>A	X	44732846	44732846	G	A	KDM6A	c.49G>A	NM_001291415.1	NP_001278344.1:p.(Ala17Thr)	NC_000023.10:g.44732846G>A	(Likely) benign	1 lab	d5112a2a55
19:50831691 KCNC3 C>T	19	50831691	50831691	C	T	KCNC3	c.649G>A	NM_004977.2	NP_004968.2:p.(Ala217Thr)	NC_000019.9:g.50831691C>T	(Likely) benign	1 lab	d51200796c
2:215840686 ABCA12 T>C	2	215840686	215840686	T	C	ABCA12	c.5204A>G	NM_173076.2	NP_775099.2:p.(Lys1735Arg)	NC_000002.11:g.215840686T>C	VUS	1 lab	d5125f29ec
11:128843131 ARHGAP32 C>T	11	128843131	128843131	C	T	ARHGAP32	c.3228G>A	NM_001142685.1	NP_001136157.1:p.(Ala1076=)	NC_000011.9:g.128843131C>T	(Likely) benign	1 lab	d512bfa6b8
X:153696855 PLXNA3 C>T	X	153696855	153696855	C	T	PLXNA3	c.4173C>T	NM_017514.4	NP_059984.3:p.(Ile1391=)	NC_000023.10:g.153696855C>T	(Likely) benign	1 lab	d514a109a8
8:141381250 TRAPPC9 G>A	8	141381250	141381250	G	A	TRAPPC9	c.1458C>T	NM_031466.6	NP_113654.4:p.(Tyr486=)	NC_000008.10:g.141381250G>A	(Likely) benign	1 lab	d516096b35
19:36593882 WDR62 A>G	19	36593882	36593882	A	G	WDR62	c.3368A>G	NM_001083961.1	NP_001077430.1:p.(Gln1123Arg)	NC_000019.9:g.36593882A>G	(Likely) benign	1 lab	d5168d3088
17:40695706 NAGLU T>G	17	40695706	40695706	T	G	NAGLU	c.1682T>G	NM_000263.3	NP_000254.2:p.(Leu561Arg)	NC_000017.10:g.40695706T>G	(Likely) pathogenic	1 lab	d516e62c28
3:121409978 GOLGB1 T>C	3	121409978	121409978	T	C	GOLGB1	c.8116A>G	NM_001256487.1	NP_001243416.1:p.(Met2706Val)	NC_000003.11:g.121409978T>C	VUS	1 lab	d518e61c49
1:152284999 FLG C>T	1	152284999	152284999	C	T	FLG	c.2363G>A	NM_002016.1	NP_002007.1:p.(Arg788Gln)	NC_000001.10:g.152284999C>T	VUS	1 lab	d519683836
2:177053541 HOXD1 C>A	2	177053541	177053541	C	A	HOXD1	c.12C>A	NM_024501.3	NP_078777.1:p.(Tyr4Ter)	NC_000002.11:g.177053541C>A	VUS	1 lab	d5196b011b
X:88008881 CPXCR1 C>A	X	88008881	88008881	C	A	CPXCR1	c.466C>A	NM_033048.5	NP_149037.4:p.(Leu156Ile)	NC_000023.10:g.88008881C>A	VUS	1 lab	d51b3ac9e4
20:61528272 DIDO1 G>A	20	61528272	61528272	G	A	DIDO1	c.1665C>T	NM_033081.2	NP_149072.2:p.(Ser555=)	NC_000020.10:g.61528272G>A	(Likely) benign	1 lab	d51c120294
1:41285863 KCNQ4 G>A	1	41285863	41285863	G	A	KCNQ4	c.972G>A	NM_004700.3	NP_004691.2:p.(Leu324=)	NC_000001.10:g.41285863G>A	(Likely) benign	1 lab	d51c52861c
11:61541429 MYRF G>C	11	61541429	61541429	G	C	MYRF	c.1116-10G>C	NM_001127392.2	NP_001120864.1:p.?	NC_000011.9:g.61541429G>C	(Likely) benign	1 lab	d51d2aa65f
4:71508402 ENAM T>TAG	4	71508402	71508403	T	TAG	ENAM	c.1259_1260insAG	NM_031889.3	NP_114095.2:p.(Pro422ValfsTer27)	NC_000004.11:g.71508402_71508403insAG	(Likely) pathogenic	1 lab	d51d8285d6
13:114435984 GRK1 T>G	13	114435984	114435984	T	G	GRK1	c.1322T>G	NM_002929.3	NP_002920.1:p.(Phe441Cys)	NC_000013.10:g.114435984T>G	VUS	1 lab	d51eb19787
15:40920831 KNL1 A>G	15	40920831	40920831	A	G	KNL1	c.5616A>G	NM_170589.4	NP_733468.3:p.(Glu1872=)	NC_000015.9:g.40920831A>G	(Likely) benign	1 lab	d51f09f9a9
6:51917921 PKHD1 C>T	6	51917921	51917921	C	T	PKHD1	c.2093G>A	NM_138694.3	NP_619639.3:p.(Gly698Asp)	NC_000006.11:g.51917921C>T	(Likely) benign	1 lab	d51f5e6b82
16:2549876 TBC1D24 AT>A	16	2549876	2549877	AT	A	TBC1D24	c.1248del	NM_001199107.2	NP_001186036.1:p.(Asn416LysfsTer31)	NC_000016.9:g.2549877del	(Likely) pathogenic	1 lab	d5206a3a16
17:76809902 USP36 G>A	17	76809902	76809902	G	A	USP36	c.1218C>T	NM_001321291.1	NP_001308220.1:p.(Asn406=)	NC_000017.10:g.76809902G>A	(Likely) benign	1 lab	d522c5319a
X:47498306 ELK1 G>A	X	47498306	47498306	G	A	ELK1	c.642C>T	NM_001114123.2	NP_001107595.1:p.(Gly214=)	NC_000023.10:g.47498306G>A	(Likely) benign	1 lab	d52418c10f
13:33635023 KL C>G	13	33635023	33635023	C	G	KL	c.1807C>G	NM_004795.3	NP_004786.2:p.(Leu603Val)	NC_000013.10:g.33635023C>G	VUS	1 lab	d5242d81d2
1:39895535 MACF1 G>A	1	39895535	39895535	G	A	MACF1	c.10739G>A	NM_012090.5	NP_036222.3:p.(Gly3580Asp)	NC_000001.10:g.39895535G>A	VUS	1 lab	d5268446d4
2:164466258 FIGN T>C	2	164466258	164466258	T	C	FIGN	c.2084A>G	NM_018086.4	NP_060556.2:p.(His695Arg)	NC_000002.11:g.164466258T>C	(Likely) benign	1 lab	d528669a37
7:100677258 MUC17 G>T	7	100677258	100677258	G	T	MUC17	c.2561G>T	NM_001040105.1	NP_001035194.1:p.(Ser854Ile)	NC_000007.13:g.100677258G>T	(Likely) benign	1 lab	d52915336b
17:72297180 DNAI2 A>G	17	72297180	72297180	A	G	DNAI2	c.865-5A>G	NM_023036.5	NP_075462.3:p.?	NC_000017.10:g.72297180A>G	(Likely) benign	1 lab	d52a4cbf9e
X:53438649 SMC1A G>T	X	53438649	53438649	G	T	SMC1A	c.1254+62C>A	NM_006306.3	NP_006297.2:p.?	NC_000023.10:g.53438649G>T	(Likely) benign	1 lab	37e1a7aadd
17:29670119 NF1 C>CT	17	29670119	29670122	C	CT	NF1	c.7095dup	NM_000267.3	NP_000258.1:p.(Asn2366Ter)	NC_000017.10:g.29670122dup	(Likely) pathogenic	1 lab	d52b38f806
2:219526634 BCS1L G>A	2	219526634	219526634	G	A	BCS1L	c.613G>A	NM_004328.4	NP_004319.1:p.(Val205Ile)	NC_000002.11:g.219526634G>A	(Likely) benign	1 lab	d52d31f0f8
7:45699790 ADCY1 C>T	7	45699790	45699790	C	T	ADCY1	c.1449+8C>T	NM_021116.3	NP_066939.1:p.?	NC_000007.13:g.45699790C>T	(Likely) benign	1 lab	d52daa5e6d
9:131395490 SPTAN1 C>G	9	131395490	131395490	C	G	SPTAN1	c.7311C>G	NM_001130438.2	NP_001123910.1:p.(Asn2437Lys)	NC_000009.11:g.131395490C>G	VUS	1 lab	d52f075940
1:43814541 MPL G>A	1	43814541	43814541	G	A	MPL	c.1336G>A	NM_005373.2	NP_005364.1:p.(Gly446Arg)	NC_000001.10:g.43814541G>A	(Likely) benign	1 lab	d52f81cfbd
9:107591371 ABCA1 G>T	9	107591371	107591371	G	T	ABCA1	c.1941C>A	NM_005502.3	NP_005493.2:p.(Ala647=)	NC_000009.11:g.107591371G>T	(Likely) benign	1 lab	d52fb0f83a
14:103396592 AMN C>A	14	103396592	103396592	C	A	AMN	c.1097C>A	NM_030943.3	NP_112205.2:p.(Ala366Glu)	NC_000014.8:g.103396592C>A	VUS	1 lab	d530d17b00
16:21053387 DNAH3 C>T	16	21053387	21053387	C	T	DNAH3	c.4462G>A	NM_001347886.1	NP_001334815.1:p.(Gly1488Arg)	NC_000016.9:g.21053387C>T	VUS	1 lab	d530f05e83
17:76117751 TMC6 G>A	17	76117751	76117751	G	A	TMC6	c.1269C>T	NM_001127198.2	NP_001120670.1:p.(Ser423=)	NC_000017.10:g.76117751G>A	(Likely) benign	1 lab	d5311538e2
6:149700206 TAB2 T>C	6	149700206	149700206	T	C	TAB2	c.1155T>C	NM_015093.5	NP_055908.1:p.(Pro385=)	NC_000006.11:g.149700206T>C	(Likely) benign	1 lab	d53262e076
8:61732595 CHD7 T>A	8	61732595	61732595	T	A	CHD7				NC_000008.10:g.61732595T>A	(Likely) pathogenic	1 lab	d532cc4bc2
1:228562312 OBSCN C>T	1	228562312	228562312	C	T	OBSCN	c.25393C>T	NM_001271223.2	NP_001258152.2:p.(Arg8465Cys)	NC_000001.10:g.228562312C>T	VUS	1 lab	d533405c28
5:150922067 FAT2 T>C	5	150922067	150922067	T	C	FAT2	c.8621A>G	NM_001447.2	NP_001438.1:p.(His2874Arg)	NC_000005.9:g.150922067T>C	(Likely) benign	1 lab	d5341bf6e3
8:94767265 TMEM67 C>A	8	94767265	94767265	C	A	TMEM67	c.123C>A	NM_153704.5	NP_714915.3:p.(Phe41Leu)	NC_000008.10:g.94767265C>A	VUS	1 lab	d536c65b6d
5:110443041 WDR36 G>A	5	110443041	110443041	G	A	WDR36	c.1397G>A	NM_139281.2	NP_644810.1:p.(Gly466Asp)	NC_000005.9:g.110443041G>A	VUS	1 lab	d53722372f
X:70472733 ZMYM3 G>A	X	70472733	70472733	G	A	ZMYM3	c.373C>T	NM_001171162.1	NP_001164633.1:p.(Pro125Ser)	NC_000023.10:g.70472733G>A	(Likely) benign	1 lab	d537295d6a
16:720505 RHOT2 A>G	16	720505	720505	A	G	RHOT2	c.488A>G	NM_138769.2	NP_620124.1:p.(Gln163Arg)	NC_000016.9:g.720505A>G	VUS	1 lab	d5389e3730
13:113699172 MCF2L C>G	13	113699172	113699172	C	G	MCF2L	c.279-413C>G	NM_001112732.3	NP_001106203.2:p.?	NC_000013.10:g.113699172C>G	(Likely) benign	1 lab	d5398a3df3
14:64450479 SYNE2 A>G	14	64450479	64450479	A	G	SYNE2	c.2026A>G	NM_182914.2	NP_878918.2:p.(Lys676Glu)	NC_000014.8:g.64450479A>G	(Likely) benign	1 lab	d53ae1e946
X:135862918 ARHGEF6 A>G	X	135862918	135862918	A	G	ARHGEF6	c.124T>C	NM_004840.2	NP_004831.1:p.(Cys42Arg)	NC_000023.10:g.135862918A>G	VUS	1 lab	d53b06803b
19:36223780 KMT2B A>G	19	36223780	36223780	A	G	KMT2B	c.6330A>G	NM_014727.2	NP_055542.1:p.(Pro2110=)	NC_000019.9:g.36223780A>G	(Likely) benign	1 lab	d53b07ad0f
17:78086764 GAA C>T	17	78086764	78086764	C	T	GAA	c.1978C>T	NM_000152.3	NP_000143.2:p.(Arg660Cys)	NC_000017.10:g.78086764C>T	(Likely) pathogenic	1 lab	d53f477447
4:183696147 TENM3 C>T	4	183696147	183696147	C	T	TENM3	c.5145C>T	NM_001080477.3	NP_001073946.1:p.(His1715=)	NC_000004.11:g.183696147C>T	(Likely) benign	1 lab	d540939608
15:51223151 AP4E1 A>G	15	51223151	51223151	A	G	AP4E1	c.852A>G	NM_007347.4	NP_031373.2:p.(Leu284=)	NC_000015.9:g.51223151A>G	(Likely) benign	1 lab	d541e46ef1
6:157505521 ARID1B A>G	6	157505521	157505521	A	G	ARID1B	c.3622A>G	NM_001346813.1	NP_001333742.1:p.(Ser1208Gly)	NC_000006.11:g.157505521A>G	VUS	1 lab	d54215718f
11:45957291 PHF21A CTA>C	11	45957291	45957293	CTA	C	PHF21A	c.1685-3_1685-2del	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45957292_45957293del	VUS	1 lab	d54420241e
10:46321402 AGAP4 G>A	10	46321402	46321402	G	A	AGAP4	c.1698C>T	NM_001291379.1	NP_001278308.1:p.(Asn566=)	NC_000010.10:g.46321402G>A	(Likely) benign	1 lab	d544cc6bec
2:179568873 TTN C>T	2	179568873	179568873	C	T	TTN	c.30223+1G>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179568873C>T	VUS	1 lab	d5465f1ef7
8:87755813 CNGB3 C>G	8	87755813	87755813	C	G	CNGB3	c.43G>C	NM_019098.4	NP_061971.3:p.(Gly15Arg)	NC_000008.10:g.87755813C>G	(Likely) benign	1 lab	d5489e53f7
X:43591078 MAOA G>T	X	43591078	43591078	G	T	MAOA	c.534G>T	NM_001270458.1	NP_001257387.1:p.(Lys178Asn)	NC_000023.10:g.43591078G>T	(Likely) benign	1 lab	d54a0ec24c
11:17140206 PIK3C2A T>C	11	17140206	17140206	T	C	PIK3C2A	c.3021A>G	NM_001321378.1	NP_001308307.1:p.(Ala1007=)	NC_000011.9:g.17140206T>C	(Likely) benign	1 lab	d54a709b57
22:19748714 TBX1 G>A	22	19748714	19748714	G	A	TBX1	c.321G>A	NM_080647.1	NP_542378.1:p.(Val107=)	NC_000022.10:g.19748714G>A	(Likely) benign	1 lab	d54aa8dce6
1:156844703 NTRK1 G>A	1	156844703	156844703	G	A	NTRK1	c.1257G>A	NM_002529.3	NP_002520.2:p.(Ser419=)	NC_000001.10:g.156844703G>A	(Likely) benign	1 lab	d54b0b5677
2:73826525 ALMS1 T>C	2	73826525	73826525	T	C	ALMS1	c.11551-3T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73826525T>C	(Likely) benign	1 lab	d54bccb0cc
X:128701341 OCRL G>A	X	128701341	128701341	G	A	OCRL	c.1466+1G>A	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128701341G>A	(Likely) pathogenic	1 lab	d54bd445d0
X:77912998 RTL3 C>T	X	77912998	77912998	C	T	RTL3	c.920G>A	NM_152694.2	NP_689907.1:p.(Ser307Asn)	NC_000023.10:g.77912998C>T	(Likely) benign	1 lab	d54e010551
19:56126868 ZNF865 C>G	19	56126868	56126868	C	G	ZNF865	c.1884C>G	NM_001195605.1	NP_001182534.1:p.(His628Gln)	NC_000019.9:g.56126868C>G	VUS	1 lab	d54eac77aa
X:47918405 ZNF630 C>T	X	47918405	47918405	C	T	ZNF630	c.1426G>A	NM_001282201.1	NP_001269130.1:p.(Gly476Ser)	NC_000023.10:g.47918405C>T	(Likely) benign	1 lab	d54f69abd1
19:45997992 RTN2 T>C	19	45997992	45997992	T	C	RTN2	c.351A>G	NM_005619.4	NP_005610.1:p.(Gln117=)	NC_000019.9:g.45997992T>C	(Likely) benign	1 lab	d551616ac0
16:2129417 TSC2 GC>G	16	2129417	2129420	GC	G	TSC2	c.3275del	NM_000548.5	NP_000539.2:p.(Pro1092ArgfsTer11)	NC_000016.9:g.2129420del	(Likely) pathogenic	1 lab	d5535292a3
X:106888553 PRPS1 G>A	X	106888553	106888553	G	A	PRPS1	c.677G>A	NM_002764.3	NP_002755.1:p.(Cys226Tyr)	NC_000023.10:g.106888553G>A	VUS	1 lab	d554065993
19:7622049 PNPLA6 C>G	19	7622049	7622049	C	G	PNPLA6	c.3311-5C>G	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7622049C>G	(Likely) benign	1 lab	d55537429a
1:158612230 SPTA1 C>T	1	158612230	158612230	C	T	SPTA1	c.4708G>A	NM_003126.3	NP_003117.2:p.(Ala1570Thr)	NC_000001.10:g.158612230C>T	(Likely) benign	1 lab	d555d41132
2:179536888 TTN C>T	2	179536888	179536888	C	T	TTN	c.35037G>A	NM_001267550.1	NP_001254479.1:p.(Pro11679=)	NC_000002.11:g.179536888C>T	(Likely) benign	1 lab	d55607ad42
16:30749741 SRCAP C>T	16	30749741	30749741	C	T	SRCAP	c.8380C>T	NM_006662.2	NP_006653.2:p.(Arg2794Cys)	NC_000016.9:g.30749741C>T	(Likely) benign	1 lab	d5566acec8
X:153296097 MECP2 CTCGGGCTCAGGTGG>C	X	153296097	153296111	CTCGGGCTCAGGTGG	C	MECP2	c.1204_1217del	NM_001110792.2	NP_001104262.1:p.(Pro402GlufsTer10)	NC_000023.10:g.153296098_153296111del	(Likely) pathogenic	1 lab	d5584ea9ee
3:87309150 POU1F1 A>G	3	87309150	87309150	A	G	POU1F1	c.848T>C	NM_001122757.2	NP_001116229.1:p.(Val283Ala)	NC_000003.11:g.87309150A>G	VUS	1 lab	d55938a8ad
X:79698902 TENT5D C>A	X	79698902	79698902	C	A	TENT5D	c.864C>A	NM_001170574.1	NP_001164045.1:p.(Phe288Leu)	NC_000023.10:g.79698902C>A	VUS	1 lab	d55a3982a2
11:124766106 ROBO4 C>T	11	124766106	124766106	C	T	ROBO4	c.667G>A	NM_019055.5	NP_061928.4:p.(Val223Ile)	NC_000011.9:g.124766106C>T	(Likely) benign	1 lab	d55aa992a8
19:33984212 PEPD G>A	19	33984212	33984212	G	A	PEPD	c.425C>T	NM_000285.3	NP_000276.2:p.(Ser142Phe)	NC_000019.9:g.33984212G>A	VUS	1 lab	d55ae45c02
X:103495217 ESX1 G>T	X	103495217	103495217	G	T	ESX1	c.913C>A	NM_153448.3	NP_703149.1:p.(Pro305Thr)	NC_000023.10:g.103495217G>T	VUS	1 lab	d55e55efcf
3:186256716 CRYGS C>T	3	186256716	186256716	C	T	CRYGS	c.306G>A	NM_017541.3	NP_060011.1:p.(Gly102=)	NC_000003.11:g.186256716C>T	(Likely) benign	1 lab	d55fb619b8
8:62578047 ASPH T>C	8	62578047	62578047	T	C	ASPH	c.441A>G	NM_020164.4	NP_064549.1:p.(Lys147=)	NC_000008.10:g.62578047T>C	(Likely) benign	1 lab	d5608a569a
22:38130446 TRIOBP G>A	22	38130446	38130446	G	A	TRIOBP	c.4103G>A	NM_001039141.2	NP_001034230.1:p.(Arg1368Gln)	NC_000022.10:g.38130446G>A	(Likely) benign	1 lab	d560dce8a8
17:18055440 MYO15A C>T	17	18055440	18055440	C	T	MYO15A	c.7908C>T	NM_016239.3	NP_057323.3:p.(Ala2636=)	NC_000017.10:g.18055440C>T	(Likely) benign	1 lab	d562287a86
3:193363584 OPA1 C>T	3	193363584	193363584	C	T	OPA1	c.1749C>T	NM_130837.2	NP_570850.2:p.(Leu583=)	NC_000003.11:g.193363584C>T	(Likely) benign	1 lab	d56268d5b0
19:50412206 NUP62 T>C	19	50412206	50412206	T	C	NUP62	c.859A>G	NM_016553.4	NP_057637.2:p.(Thr287Ala)	NC_000019.9:g.50412206T>C	(Likely) benign	1 lab	d56297fdfc
9:123202134 CDK5RAP2 A>G	9	123202134	123202134	A	G	CDK5RAP2	c.3265T>C	NM_018249.5	NP_060719.4:p.(Ser1089Pro)	NC_000009.11:g.123202134A>G	VUS	1 lab	d56405953e
16:51172911 SALL1 C>T	16	51172911	51172911	C	T	SALL1	c.3222G>A	NM_002968.2	NP_002959.2:p.(Ala1074=)	NC_000016.9:g.51172911C>T	(Likely) benign	1 lab	d56431201c
19:36218775 KMT2B C>T	19	36218775	36218775	C	T	KMT2B	c.4393-7C>T	NM_014727.2	NP_055542.1:p.?	NC_000019.9:g.36218775C>T	(Likely) benign	1 lab	d565141e23
X:49061777 CACNA1F C>T	X	49061777	49061777	C	T	CACNA1F	c.5754G>A	NM_005183.3	NP_005174.2:p.(Val1918=)	NC_000023.10:g.49061777C>T	VUS	1 lab	d565d063c9
15:40913912 KNL1 A>G	15	40913912	40913912	A	G	KNL1	c.1528A>G	NM_170589.4	NP_733468.3:p.(Met510Val)	NC_000015.9:g.40913912A>G	VUS	1 lab	d565f25b45
16:79633321 MAF G>A	16	79633321	79633321	G	A	MAF	c.479C>T	NM_001031804.2	NP_001026974.1:p.(Ala160Val)	NC_000016.9:g.79633321G>A	VUS	1 lab	d566473e78
X:54950008 TRO C>T	X	54950008	54950008	C	T	TRO	c.1043C>T	NM_001039705.2	NP_001034794.1:p.(Thr348Ile)	NC_000023.10:g.54950008C>T	(Likely) benign	1 lab	d575fcc014
19:38993369 RYR1 TGGAGC>T	19	38993369	38993376	TGGAGC	T	RYR1	c.7835+5_7835+9del	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38993372_38993376del	(Likely) benign	1 lab	d567f2ad5a
6:3111115 RIPK1 C>T	6	3111115	3111115	C	T	RIPK1	c.1166C>T	NM_001317061.2	NP_001303990.1:p.(Thr389Met)	NC_000006.11:g.3111115C>T	(Likely) benign	1 lab	d5693d9c62
3:184045743 EIF4G1 C>G	3	184045743	184045743	C	G	EIF4G1	c.3927C>G	NM_001194946.1	NP_001181875.1:p.(His1309Gln)	NC_000003.11:g.184045743C>G	VUS	1 lab	d56b3b6502
10:11371008 MISSING C>T	10	11371008	11371008	C	T	MISSING				NC_000010.10:g.11371008C>T	(Likely) pathogenic	1 lab	d56bb11cea
16:88500200 ZNF469 G>A	16	88500200	88500200	G	A	ZNF469				NC_000016.9:g.88500200G>A	VUS	1 lab	d56c10a5cb
16:55536748 MMP2 C>G	16	55536748	55536748	C	G	MMP2	c.1827C>G	NM_004530.5	NP_004521.1:p.(Ala609=)	NC_000016.9:g.55536748C>G	(Likely) benign	1 lab	d56c369f62
8:117879010 RAD21 G>A	8	117879010	117879010	G	A	RAD21	c.-32-10C>T	NM_006265.2	NP_006256.1:p.?	NC_000008.10:g.117879010G>A	(Likely) benign	1 lab	d56c72184d
2:111398956 BUB1 A>T	2	111398956	111398956	A	T	BUB1	c.2711T>A	NM_004336.4	NP_004327.1:p.(Met904Lys)	NC_000002.11:g.111398956A>T	VUS	1 lab	d5710579a2
6:27791903 H4C11 A>G	6	27791903	27791903	A	G	H4C11	c.1A>G	NM_021968.3	NP_068803.1:p.(Met1?)	NC_000006.11:g.27791903A>G	VUS	1 lab	d5711f4146
5:73197079 ARHGEF28 C>A	5	73197079	73197079	C	A	ARHGEF28	c.4044C>A	NM_001080479.2	NP_001073948.2:p.(Thr1348=)	NC_000005.9:g.73197079C>A	(Likely) benign	1 lab	d5712ca221
17:29587676 NF1 C>CA	17	29587676	29587683	C	CA	NF1	c.4514+150dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587683dup	(Likely) benign	1 lab	d575170416
1:152283943 FLG C>G	1	152283943	152283943	C	G	FLG	c.3419G>C	NM_002016.1	NP_002007.1:p.(Arg1140Pro)	NC_000001.10:g.152283943C>G	VUS	1 lab	d5758a4c22
7:155538289 MISSING C>T	7	155538289	155538289	C	T	MISSING				NC_000007.13:g.155538289C>T	VUS	1 lab	0267616f0b
3:49059873 NDUFAF3 A>G	3	49059873	49059873	A	G	NDUFAF3	c.1A>G	NM_199073.1	NP_951047.1:p.(Met1?)	NC_000003.11:g.49059873A>G	VUS	1 lab	d576acb084
9:27558492 C9orf72 T>C	9	27558492	27558492	T	C	C9orf72	c.852A>G	NM_001256054.1	NP_001242983.1:p.(Leu284=)	NC_000009.11:g.27558492T>C	(Likely) benign	1 lab	d57771e3de
5:90144542 ADGRV1 G>A	5	90144542	90144542	G	A	ADGRV1	c.17108G>A	NM_032119.4	NP_115495.3:p.(Arg5703His)	NC_000005.9:g.90144542G>A	VUS	1 lab	d579a2ef9b
13:114436001 GRK1 G>A	13	114436001	114436001	G	A	GRK1	c.1339G>A	NM_002929.3	NP_002920.1:p.(Asp447Asn)	NC_000013.10:g.114436001G>A	VUS	1 lab	d57a3ee098
17:46804414 HOXB13 C>T	17	46804414	46804414	C	T	HOXB13	c.602-9G>A	NM_006361.5	NP_006352.2:p.?	NC_000017.10:g.46804414C>T	(Likely) benign	1 lab	d57c82f919
11:120976565 TECTA A>T	11	120976565	120976565	A	T	TECTA	c.90A>T	NM_005422.2	NP_005413.2:p.(Pro30=)	NC_000011.9:g.120976565A>T	(Likely) benign	1 lab	d57cc62fa7
1:145414811 HJV C>T	1	145414811	145414811	C	T	HJV	c.30C>T	NM_213653.3	NP_998818.1:p.(Pro10=)	NC_000001.10:g.145414811C>T	(Likely) benign	1 lab	d57cd733d8
22:24108466 CHCHD10 G>A	22	24108466	24108466	G	A	CHCHD10	c.279C>T	NM_001301339.1	NP_001288268.1:p.(Pro93=)	NC_000022.10:g.24108466G>A	(Likely) benign	1 lab	d580640a66
7:120990602 FAM3C G>A	7	120990602	120990602	G	A	FAM3C	c.597C>T	NM_001040020.1	NP_001035109.1:p.(His199=)	NC_000007.13:g.120990602G>A	(Likely) benign	1 lab	d580b7bd1b
14:74756803 ABCD4 G>A	14	74756803	74756803	G	A	ABCD4	c.1346C>T	NM_005050.3	NP_005041.1:p.(Thr449Met)	NC_000014.8:g.74756803G>A	VUS	1 lab	d583e0a05f
1:116310900 CASQ2 C>T	1	116310900	116310900	C	T	CASQ2	c.234+29G>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116310900C>T	(Likely) benign	1 lab	d5857ac19c
17:29664899 NF1 G>T	17	29664899	29664899	G	T	NF1	c.6641+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664899G>T	(Likely) pathogenic	1 lab	d585b81766
1:76199203 ACADM G>C	1	76199203	76199203	G	C	ACADM	c.386-10G>C	NM_001286043.1	NP_001272972.1:p.?	NC_000001.10:g.76199203G>C	(Likely) benign	1 lab	d5861f2835
21:41505864 DSCAM T>C	21	41505864	41505864	T	C	DSCAM	c.3479A>G	NM_001389.5	NP_001380.2:p.(Asn1160Ser)	NC_000021.8:g.41505864T>C	VUS	1 lab	d5871e32b9
22:43032737 CYB5R3 C>T	22	43032737	43032737	C	T	CYB5R3	c.68G>A	NM_001129819.2	NP_001123291.1:p.(Arg23Gln)	NC_000022.10:g.43032737C>T	(Likely) benign	1 lab	d587c98de4
7:5568928 ACTB ACGATGCCGTGCT>A	7	5568928	5568945	ACGATGCCGTGCT	A	ACTB	c.215_226del	NM_001101.5	NP_001092.1:p.(Glu72_Ile75del)	NC_000007.13:g.5568934_5568945del	VUS	1 lab	d5883025c0
3:50231664 GNAT1 A>T	3	50231664	50231664	A	T	GNAT1	c.708+10A>T	NM_144499.2	NP_653082.1:p.?	NC_000003.11:g.50231664A>T	(Likely) benign	1 lab	d58afe4e44
10:5789429 TASOR2 G>A	10	5789429	5789429	G	A	TASOR2	c.4045G>A	NM_001321784.1	NP_001308713.1:p.(Val1349Met)	NC_000010.10:g.5789429G>A	(Likely) benign	1 lab	d58b1072cd
12:40757112 LRRK2 TTACA>T	12	40757112	40757117	TTACA	T	LRRK2	c.7029-90_7029-87del	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40757114_40757117del	(Likely) benign	1 lab	d58c5126ff
16:705434 WDR90 C>T	16	705434	705434	C	T	WDR90	c.1684C>T	NM_145294.5	NP_660337.3:p.(Arg562Trp)	NC_000016.9:g.705434C>T	(Likely) benign	1 lab	d58e0fb60f
8:144899118 SCRIB G>A	8	144899118	144899118	G	A	SCRIB				NC_000008.10:g.144899118G>A	(Likely) pathogenic	1 lab	02cd2fe797
3:100963119 IMPG2 C>T	3	100963119	100963119	C	T	IMPG2	c.2056G>A	NM_016247.3	NP_057331.2:p.(Ala686Thr)	NC_000003.11:g.100963119C>T	(Likely) benign	1 lab	d58e79cc50
16:14346254 MRTFB C>T	16	14346254	14346254	C	T	MRTFB	c.2598C>T	NM_001308142.1	NP_001295071.1:p.(Val866=)	NC_000016.9:g.14346254C>T	(Likely) benign	1 lab	d5907e7aea
X:69366660 IGBP1 A>C	X	69366660	69366660	A	C	IGBP1	c.660A>C	NM_001551.2	NP_001542.1:p.(Glu220Asp)	NC_000023.10:g.69366660A>C	(Likely) benign	1 lab	d5960feff2
8:143996319 CYP11B2 T>C	8	143996319	143996319	T	C	CYP11B2	c.601A>G	NM_000498.3	NP_000489.3:p.(Asn201Asp)	NC_000008.10:g.143996319T>C	(Likely) benign	1 lab	d598f9c0cc
22:50660064 TUBGCP6 C>T	22	50660064	50660064	C	T	TUBGCP6	c.2724G>A	NM_020461.3	NP_065194.2:p.(Pro908=)	NC_000022.10:g.50660064C>T	(Likely) benign	1 lab	d5994f48ec
20:62038609 KCNQ2 C>A	20	62038609	62038609	C	A	KCNQ2	c.2007G>T	NM_172107.3	NP_742105.1:p.(Pro669=)	NC_000020.10:g.62038609C>A	(Likely) benign	1 lab	d5995fb2f2
X:15307746 ASB11 T>C	X	15307746	15307746	T	C	ASB11	c.535A>G	NM_080873.2	NP_543149.1:p.(Met179Val)	NC_000023.10:g.15307746T>C	VUS	1 lab	d59b356ef2
2:47693904 MSH2 A>G	2	47693904	47693904	A	G	MSH2	c.1618A>G	NM_000251.2	NP_000242.1:p.(Ser540Gly)	NC_000002.11:g.47693904A>G	VUS	1 lab	d59b912f93
10:71705461 COL13A1 C>T	10	71705461	71705461	C	T	COL13A1	c.1970C>T	NM_001130103.1	NP_001123575.1:p.(Thr657Met)	NC_000010.10:g.71705461C>T	(Likely) benign	1 lab	d59c03d44d
12:124109352 EIF2B1 G>A	12	124109352	124109352	G	A	EIF2B1	c.609C>T	NM_001414.3	NP_001405.1:p.(Asn203=)	NC_000012.11:g.124109352G>A	(Likely) benign	1 lab	d59c81147e
19:8959693 MUC16 C>T	19	8959693	8959693	C	T	MUC16	c.43439G>A	NM_024690.2	NP_078966.2:p.(Arg14480Gln)	NC_000019.9:g.8959693C>T	(Likely) benign	1 lab	d5a895ec3c
9:14770701 FREM1 C>T	9	14770701	14770701	C	T	FREM1	c.4961G>A	NM_144966.5	NP_659403.4:p.(Arg1654His)	NC_000009.11:g.14770701C>T	(Likely) benign	1 lab	d59d5f1398
6:44278885 AARS2 G>A	6	44278885	44278885	G	A	AARS2	c.595C>T	NM_020745.3	NP_065796.1:p.(Arg199Cys)	NC_000006.11:g.44278885G>A	VUS	1 lab	d59d7a46c0
2:238280769 COL6A3 G>A	2	238280769	238280769	G	A	COL6A3	c.3891C>T	NM_004369.3	NP_004360.2:p.(Asn1297=)	NC_000002.11:g.238280769G>A	(Likely) benign	1 lab	d59db76bf8
2:152359922 NEB G>A	2	152359922	152359922	G	A	NEB	c.23881C>T	NM_001271208.1	NP_001258137.1:p.(Pro7961Ser)	NC_000002.11:g.152359922G>A	VUS	1 lab	d59debbac7
3:77671469 ROBO2 G>A	3	77671469	77671469	G	A	ROBO2	c.3658G>A	NM_001290040.1	NP_001276969.1:p.(Val1220Ile)	NC_000003.11:g.77671469G>A	(Likely) benign	1 lab	d59e3fe1c3
X:129208637 ELF4 C>T	X	129208637	129208637	C	T	ELF4	c.166G>A	NM_001421.3	NP_001412.1:p.(Asp56Asn)	NC_000023.10:g.129208637C>T	VUS	1 lab	d59f0c4e13
3:67579582 SUCLG2 C>A	3	67579582	67579582	C	A	SUCLG2	c.255G>T	NM_003848.3	NP_003839.2:p.(Gln85His)	NC_000003.11:g.67579582C>A	VUS	1 lab	d59fb46952
19:12924218 RNASEH2A C>T	19	12924218	12924218	C	T	RNASEH2A	c.838C>T	NM_006397.2	NP_006388.2:p.(Arg280Cys)	NC_000019.9:g.12924218C>T	(Likely) benign	1 lab	d5a30b4321
19:8654376 ADAMTS10 C>T	19	8654376	8654376	C	T	ADAMTS10	c.1994G>A	NM_030957.3	NP_112219.3:p.(Arg665His)	NC_000019.9:g.8654376C>T	VUS	1 lab	d5a3866909
4:6303328 WFS1 G>A	4	6303328	6303328	G	A	WFS1	c.1806G>A	NM_006005.3	NP_005996.2:p.(Ala602=)	NC_000004.11:g.6303328G>A	(Likely) benign	1 lab	d5a50c1a53
1:161748087 ATF6 T>C	1	161748087	161748087	T	C	ATF6	c.136T>C	NM_007348.3	NP_031374.2:p.(Leu46=)	NC_000001.10:g.161748087T>C	(Likely) benign	1 lab	d5a82878e1
2:211532907 CPS1 C>T	2	211532907	211532907	C	T	CPS1	c.4003-3C>T	NM_001875.4	NP_001866.2:p.?	NC_000002.11:g.211532907C>T	(Likely) benign	1 lab	d5a8471db0
19:41116501 LTBP4 G>A	19	41116501	41116501	G	A	LTBP4	c.1949G>A	NM_001042544.1	NP_001036009.1:p.(Gly650Asp)	NC_000019.9:g.41116501G>A	VUS	1 lab	d5aa650599
16:3613673 NLRC3 G>A	16	3613673	3613673	G	A	NLRC3	c.1265C>T	NM_178844.3	NP_849172.2:p.(Ala422Val)	NC_000016.9:g.3613673G>A	VUS	1 lab	d5ab73ed7f
17:5418305 NLRP1 C>T	17	5418305	5418305	C	T	NLRP1	c.4191G>A	NM_033004.4	NP_127497.1:p.(Glu1397=)	NC_000017.10:g.5418305C>T	(Likely) benign	1 lab	d5abb8fdc0
15:23892852 MAGEL2 G>A	15	23892852	23892852	G	A	MAGEL2	c.38C>T	NM_019066.4	NP_061939.3:p.(Pro13Leu)	NC_000015.9:g.23892852G>A	VUS	1 lab	d5ac032433
17:29677289 NF1 T>C	17	29677289	29677289	T	C	NF1	c.7347T>C	NM_000267.3	NP_000258.1:p.(Asn2449=)	NC_000017.10:g.29677289T>C	(Likely) benign	1 lab	d5ac338370
X:48920046 CCDC120 C>T	X	48920046	48920046	C	T	CCDC120				NC_000023.10:g.48920046C>T	(Likely) benign	1 lab	d5ad7e45ec
15:43568713 TGM7 G>A	15	43568713	43568713	G	A	TGM7	c.2073C>T	NM_052955.2	NP_443187.1:p.(Asn691=)	NC_000015.9:g.43568713G>A	(Likely) benign	1 lab	d5ae7471f7
5:145719546 POU4F3 G>T	5	145719546	145719546	G	T	POU4F3	c.556G>T	NM_002700.3	NP_002691.1:p.(Glu186Ter)	NC_000005.9:g.145719546G>T	(Likely) pathogenic	1 lab	d5af693263
5:90074821 ADGRV1 G>A	5	90074821	90074821	G	A	ADGRV1	c.12989G>A	NM_032119.4	NP_115495.3:p.(Arg4330Lys)	NC_000005.9:g.90074821G>A	(Likely) benign	1 lab	d5b092811d
9:102988328 INVS CTT>C	9	102988328	102988330	CTT	C	INVS	c.274-15_274-14del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.102988329_102988330del	(Likely) benign	1 lab	d5b1d33585
4:126412773 FAT4 C>A	4	126412773	126412773	C	A	FAT4	c.14802C>A	NM_001291303.1	NP_001278232.1:p.(Asn4934Lys)	NC_000004.11:g.126412773C>A	VUS	1 lab	d5b5184e9c
9:135203493 SETX T>C	9	135203493	135203493	T	C	SETX	c.3492A>G	NM_015046.5	NP_055861.3:p.(Arg1164=)	NC_000009.11:g.135203493T>C	(Likely) benign	1 lab	d5b6a59303
X:153592508 FLNA G>A	X	153592508	153592508	G	A	FLNA	c.2162C>T	NM_001110556.2	NP_001104026.1:p.(Ala721Val)	NC_000023.10:g.153592508G>A	(Likely) benign	1 lab	d5b71cfa42
4:47939468 CNGA1 T>C	4	47939468	47939468	T	C	CNGA1	c.1250A>G	NM_001142564.1	NP_001136036.1:p.(Lys417Arg)	NC_000004.11:g.47939468T>C	VUS	1 lab	d5bba72445
12:64202865 RXYLT1 A>G	12	64202865	64202865	A	G	RXYLT1	c.1325A>G	NM_014254.2	NP_055069.1:p.(Lys442Arg)	NC_000012.11:g.64202865A>G	(Likely) benign	1 lab	d5bbbab1c3
16:2138103 TSC2 T>C	16	2138103	2138103	T	C	TSC2	c.5123T>C	NM_000548.3	NP_000539.2:p.(Leu1708Pro)	NC_000016.9:g.2138103T>C	(Likely) pathogenic	1 lab	d5bc4de77f
1:155262972 PKLR C>A	1	155262972	155262972	C	A	PKLR	c.1432G>T	NM_000298.6	NP_000289.1:p.(Gly478Cys)	NC_000001.10:g.155262972C>A	VUS	1 lab	d5bd7bcf46
16:84050776 SLC38A8 T>C	16	84050776	84050776	T	C	SLC38A8	c.922A>G	NM_001080442.2	NP_001073911.1:p.(Thr308Ala)	NC_000016.9:g.84050776T>C	VUS	1 lab	d5bf8ef59c
12:80730314 OTOGL C>T	12	80730314	80730314	C	T	OTOGL	c.4695C>T	NM_173591.3	NP_775862.3:p.(Ile1565=)	NC_000012.11:g.80730314C>T	(Likely) benign	1 lab	d5bfce376e
10:48429393 GDF10 C>G	10	48429393	48429393	C	G	GDF10	c.493G>C	NM_004962.4	NP_004953.1:p.(Gly165Arg)	NC_000010.10:g.48429393C>G	(Likely) benign	1 lab	d5c06d76b3
5:89989860 ADGRV1 C>T	5	89989860	89989860	C	T	ADGRV1	c.7287C>T	NM_032119.4	NP_115495.3:p.(Val2429=)	NC_000005.9:g.89989860C>T	(Likely) benign	1 lab	d5c3a76fde
9:139329253 INPP5E C>T	9	139329253	139329253	C	T	INPP5E	c.875G>A	NM_019892.5	NP_063945.2:p.(Arg292His)	NC_000009.11:g.139329253C>T	VUS	1 lab	d5c46700dc
3:121410198 GOLGB1 T>C	3	121410198	121410198	T	C	GOLGB1	c.7896A>G	NM_001256487.1	NP_001243416.1:p.(Gln2632=)	NC_000003.11:g.121410198T>C	(Likely) benign	1 lab	d5c5db3fed
15:28391439 HERC2 C>T	15	28391439	28391439	C	T	HERC2	c.10952G>A	NM_004667.5	NP_004658.3:p.(Arg3651His)	NC_000015.9:g.28391439C>T	VUS	1 lab	d5c780799b
X:105153067 NRK C>T	X	105153067	105153067	C	T	NRK	c.1434C>T	NM_198465.3	NP_940867.2:p.(Leu478=)	NC_000023.10:g.105153067C>T	(Likely) benign	1 lab	d5c7fe9f0d
3:8787356 CAV3 C>T	3	8787356	8787356	C	T	CAV3	c.259C>T	NM_033337.2	NP_203123.1:p.(Leu87Phe)	NC_000003.11:g.8787356C>T	VUS	1 lab	d5ccae2afa
X:50350515 SHROOM4 T>C	X	50350515	50350515	T	C	SHROOM4	c.3627A>G	NM_020717.3	NP_065768.2:p.(Ala1209=)	NC_000023.10:g.50350515T>C	(Likely) benign	1 lab	d5ce27fb38
2:241558376 GPR35 G>A	2	241558376	241558376	G	A	GPR35	c.17G>A	NM_001195381.1	NP_001182310.1:p.(Arg6Gln)	NC_000002.11:g.241558376G>A	(Likely) benign	1 lab	d5cfbdd929
X:73751358 SLC16A2 G>A	X	73751358	73751358	G	A	SLC16A2	c.1590G>A	NM_006517.4	NP_006508.2:p.(Pro530=)	NC_000023.10:g.73751358G>A	(Likely) benign	1 lab	d5cfcecf28
4:119689443 SEC24D G>A	4	119689443	119689443	G	A	SEC24D	c.1065C>T	NM_014822.3	NP_055637.2:p.(His355=)	NC_000004.11:g.119689443G>A	(Likely) benign	1 lab	d5d0630b31
X:22292316 CBLL2 G>A	X	22292316	22292316	G	A	CBLL2	c.1208G>A	NM_152577.3	NP_689790.1:p.(Arg403Gln)	NC_000023.10:g.22292316G>A	VUS	1 lab	d5d1e0137f
19:1818506 REXO1 G>A	19	1818506	1818506	G	A	REXO1	c.2991C>T	NM_020695.4	NP_065746.3:p.(His997=)	NC_000019.9:g.1818506G>A	(Likely) benign	1 lab	d5d2299215
9:137686949 COL5A1 C>T	9	137686949	137686949	C	T	COL5A1	c.2722C>T	NM_000093.4	NP_000084.3:p.(Pro908Ser)	NC_000009.11:g.137686949C>T	VUS	1 lab	d5d2a07de0
4:183658203 TENM3 A>C	4	183658203	183658203	A	C	TENM3	c.3210A>C	NM_001080477.3	NP_001073946.1:p.(Lys1070Asn)	NC_000004.11:g.183658203A>C	VUS	1 lab	d5d2e5e0b0
6:33154574 COL11A2 T>C	6	33154574	33154574	T	C	COL11A2	c.628A>G	NM_080680.2	NP_542411.2:p.(Ile210Val)	NC_000006.11:g.33154574T>C	(Likely) benign	1 lab	d5d3576cbc
10:122278398 PLPP4 A>G	10	122278398	122278398	A	G	PLPP4	c.310A>G	NM_001030059.2	NP_001025230.1:p.(Ile104Val)	NC_000010.10:g.122278398A>G	(Likely) benign	1 lab	d5d42c8aee
16:69727964 NFAT5 A>G	16	69727964	69727964	A	G	NFAT5	c.3954A>G	NM_138714.3	NP_619728.2:p.(Gln1318=)	NC_000016.9:g.69727964A>G	(Likely) benign	1 lab	d5d4fac08d
1:45478808 UROD A>G	1	45478808	45478808	A	G	UROD	c.134A>G	NM_000374.5	NP_000365.3:p.(Glu45Gly)	NC_000001.10:g.45478808A>G	VUS	1 lab	d5d71e97a6
16:21080736 DNAH3 C>T	16	21080736	21080736	C	T	DNAH3	c.3381G>A	NM_017539.2	NP_060009.1:p.(Ala1127=)	NC_000016.9:g.21080736C>T	VUS	1 lab	d5d759df56
18:6942214 LAMA1 C>T	18	6942214	6942214	C	T	LAMA1	c.9092G>A	NM_005559.3	NP_005550.2:p.(Arg3031His)	NC_000018.9:g.6942214C>T	(Likely) benign	1 lab	d5d77f639d
12:124922515 NCOR2 G>A	12	124922515	124922515	G	A	NCOR2	c.843C>T	NM_006312.5	NP_006303.4:p.(Ile281=)	NC_000012.11:g.124922515G>A	(Likely) benign	1 lab	d5d808e4a3
14:105412332 AHNAK2 C>T	14	105412332	105412332	C	T	AHNAK2	c.9456G>A	NM_138420.3	NP_612429.2:p.(Ser3152=)	NC_000014.8:g.105412332C>T	(Likely) benign	1 lab	d5dadceada
16:2138268 TSC2 A>ATATC	16	2138268	2138274	A	ATATC	TSC2	c.5204_5207dup	NM_000548.3	NP_000539.2:p.(Pro1737LeufsTer39)	NC_000016.9:g.2138271_2138274dup	(Likely) pathogenic	1 lab	d5db2808ee
16:89712406 CHMP1A G>A	16	89712406	89712406	G	A	CHMP1A	c.639C>T	NM_001083314.3	NP_001076783.1:p.(Thr213=)	NC_000016.9:g.89712406G>A	(Likely) benign	1 lab	d5dcfdec63
6:7566657 DSP G>A	6	7566657	7566657	G	A	DSP	c.987G>A	NM_004415.2	NP_004406.2:p.(Leu329=)	NC_000006.11:g.7566657G>A	(Likely) benign	1 lab	d5dfd31fff
2:122288471 RNU4ATAC G>A	2	122288471	122288471	G	A	RNU4ATAC	n.16G>A	NR_023343.1		NC_000002.11:g.122288471G>A	(Likely) pathogenic	1 lab	d5e31027c4
8:100479780 VPS13B C>T	8	100479780	100479780	C	T	VPS13B	c.3584C>T	NM_017890.4	NP_060360.3:p.(Thr1195Met)	NC_000008.10:g.100479780C>T	(Likely) benign	1 lab	d5e41f9236
14:20181955 OR11H2 A>T	14	20181955	20181955	A	T	OR11H2	c.121T>A	NM_001197287.1	NP_001184216.1:p.(Phe41Ile)	NC_000014.8:g.20181955A>T	(Likely) benign	1 lab	d5e464606b
4:121742459 PRDM5 T>G	4	121742459	121742459	T	G	PRDM5	c.342A>C	NM_018699.3	NP_061169.2:p.(Glu114Asp)	NC_000004.11:g.121742459T>G	(Likely) benign	1 lab	d5e4eccefa
12:49580449 TUBA1A C>A	12	49580449	49580449	C	A	TUBA1A	c.171G>T	NM_006009.3	NP_006000.2:p.(Gly57=)	NC_000012.11:g.49580449C>A	(Likely) benign	1 lab	d5e59f1e68
2:179638681 TTN A>G	2	179638681	179638681	A	G	TTN	c.7214T>C	NM_001267550.1	NP_001254479.1:p.(Ile2405Thr)	NC_000002.11:g.179638681A>G	VUS	1 lab	d5e5ab67bf
8:145737544 RECQL4 G>C	8	145737544	145737544	G	C	RECQL4	c.3219C>G	NM_004260.3	NP_004251.3:p.(Thr1073=)	NC_000008.10:g.145737544G>C	(Likely) benign	1 lab	d5e5e9fb2b
18:6949257 LAMA1 A>G	18	6949257	6949257	A	G	LAMA1	c.8399T>C	NM_005559.3	NP_005550.2:p.(Val2800Ala)	NC_000018.9:g.6949257A>G	VUS	1 lab	d5e6f362ce
X:153596008 FLNA C>T	X	153596008	153596008	C	T	FLNA	c.720+1G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153596008C>T	(Likely) pathogenic	1 lab	d5e76985c2
5:147493997 SPINK5 C>T	5	147493997	147493997	C	T	SPINK5	c.1960C>T	NM_001127698.1	NP_001121170.1:p.(Arg654Cys)	NC_000005.9:g.147493997C>T	VUS	1 lab	d5e7febc3a
17:66352836 ARSG G>A	17	66352836	66352836	G	A	ARSG	c.595G>A	NM_001352910.1	NP_001339839.1:p.(Val199Met)	NC_000017.10:g.66352836G>A	(Likely) benign	1 lab	d5ea23014f
8:31004979 WRN A>G	8	31004979	31004979	A	G	WRN	c.3559A>G	NM_000553.4	NP_000544.2:p.(Met1187Val)	NC_000008.10:g.31004979A>G	VUS	1 lab	d5ea823b6b
3:184039483 EIF4G1 G>C	3	184039483	184039483	G	C	EIF4G1	c.1111G>C	NM_182917.4	NP_886553.3:p.(Glu371Gln)	NC_000003.11:g.184039483G>C	VUS	1 lab	d5eab1f50c
14:32295866 NUBPL C>T	14	32295866	32295866	C	T	NUBPL	c.639C>T	NM_025152.2	NP_079428.2:p.(Ile213=)	NC_000014.8:g.32295866C>T	(Likely) benign	1 lab	d5eb7fcde1
21:46924384 COL18A1 G>A	21	46924384	46924384	G	A	COL18A1	c.2782G>A	NM_130445.2	NP_569712.2:p.(Gly928Arg)	NC_000021.8:g.46924384G>A	VUS	1 lab	d5eb955877
17:17697762 RAI1 G>A	17	17697762	17697762	G	A	RAI1	c.1500G>A	NM_030665.3	NP_109590.3:p.(Pro500=)	NC_000017.10:g.17697762G>A	(Likely) benign	1 lab	d5eb9f0436
5:150908946 FAT2 C>T	5	150908946	150908946	C	T	FAT2	c.9819G>A	NM_001447.2	NP_001438.1:p.(Leu3273=)	NC_000005.9:g.150908946C>T	(Likely) benign	1 lab	d5ec112657
13:39262845 FREM2 G>A	13	39262845	39262845	G	A	FREM2	c.1364G>A	NM_207361.5	NP_997244.4:p.(Arg455Gln)	NC_000013.10:g.39262845G>A	VUS	1 lab	d5ee52469c
2:179453400 TTN T>C	2	179453400	179453400	T	C	TTN	c.63052A>G	NM_001267550.1	NP_001254479.1:p.(Ile21018Val)	NC_000002.11:g.179453400T>C	VUS	1 lab	d5ef93e971
X:30237220 MAGEB2 G>A	X	30237220	30237220	G	A	MAGEB2	c.523G>A	NM_002364.4	NP_002355.2:p.(Gly175Ser)	NC_000023.10:g.30237220G>A	(Likely) benign	1 lab	d5efa19b8f
22:19868186 TXNRD2 G>A	22	19868186	19868186	G	A	TXNRD2	c.1141C>T	NM_006440.3	NP_006431.2:p.(Arg381Trp)	NC_000022.10:g.19868186G>A	VUS	1 lab	d5f021f97b
14:105409803 AHNAK2 C>T	14	105409803	105409803	C	T	AHNAK2	c.11985G>A	NM_138420.3	NP_612429.2:p.(Ala3995=)	NC_000014.8:g.105409803C>T	(Likely) benign	1 lab	d5f26fa94e
9:32542036 TOPORS TGAA>T	9	32542036	32542041	TGAA	T	TOPORS	c.2484_2486del	NM_005802.5	NP_005793.2:p.(Ser830del)	NC_000009.11:g.32542039_32542041del	VUS	1 lab	d5f5a6495b
16:314836 FAM234A G>T	16	314836	314836	G	T	FAM234A	c.1474G>T	NM_032039.4	NP_114428.1:p.(Ala492Ser)	NC_000016.9:g.314836G>T	(Likely) benign	1 lab	d5f70ee0da
8:145024784 PLEC G>A	8	145024784	145024784	G	A	PLEC	c.91C>T	NM_201380.3	NP_958782.1:p.(Arg31Trp)	NC_000008.10:g.145024784G>A	(Likely) benign	1 lab	d5f74a0a79
11:45948046 LARGE2 ATTC>A	11	45948046	45948052	ATTC	A	LARGE2	c.1066_1068del	NM_001300721.2	NP_001287650.1:p.(Phe356del)	NC_000011.9:g.45948050_45948052del	VUS	1 lab	d5f9ed8b66
16:67690790 CARMIL2 G>A	16	67690790	67690790	G	A	CARMIL2	c.4117+6G>A	NM_001013838.2	NP_001013860.1:p.?	NC_000016.9:g.67690790G>A	(Likely) benign	1 lab	d5fb4c5fe1
20:19955320 RIN2 C>T	20	19955320	19955320	C	T	RIN2	c.798C>T	NM_001242581.1	NP_001229510.1:p.(Asp266=)	NC_000020.10:g.19955320C>T	(Likely) benign	1 lab	d5fbabc7df
17:29496931 NF1 TC>T	17	29496931	29496932	TC	T	NF1	c.503del	NM_001042492.3	NP_001035957.1:p.(Ser168Ter)	NC_000017.10:g.29496932del	(Likely) pathogenic	1 lab	d5fc2ab4c2
3:150690482 CLRN1 T>C	3	150690482	150690482	T	C	CLRN1	c.14A>G	NM_001256819.1	NP_001243748.1:p.(Gln5Arg)	NC_000003.11:g.150690482T>C	VUS	1 lab	d5fc34114d
1:8418599 RERE T>C	1	8418599	8418599	T	C	RERE	c.3996A>G	NM_012102.3	NP_036234.3:p.(Pro1332=)	NC_000001.10:g.8418599T>C	(Likely) benign	1 lab	d5fdabffde
19:40900820 PRX G>A	19	40900820	40900820	G	A	PRX	c.3439C>T	NM_181882.2	NP_870998.2:p.(Pro1147Ser)	NC_000019.9:g.40900820G>A	(Likely) benign	1 lab	d5fdf07fa7
14:105411236 AHNAK2 C>T	14	105411236	105411236	C	T	AHNAK2	c.10552G>A	NM_138420.3	NP_612429.2:p.(Ala3518Thr)	NC_000014.8:g.105411236C>T	(Likely) benign	1 lab	d602529074
9:137671942 COL5A1 G>A	9	137671942	137671942	G	A	COL5A1	c.2386-6G>A	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137671942G>A	(Likely) benign	1 lab	d602a21a53
17:29556853 NF1 GT>G	17	29556853	29556857	GT	G	NF1	c.2855del	NM_001042492.3	NP_001035957.1:p.(Leu952TyrfsTer2)	NC_000017.10:g.29556857del	(Likely) pathogenic	1 lab	d604f1f9c5
7:82580385 PCLO A>G	7	82580385	82580385	A	G	PCLO	c.9519T>C	NM_033026.5	NP_149015.2:p.(Leu3173=)	NC_000007.13:g.82580385A>G	(Likely) benign	1 lab	d60568e337
X:57935472 ZXDA G>A	X	57935472	57935472	G	A	ZXDA	c.1383C>T	NM_007156.4	NP_009087.1:p.(Phe461=)	NC_000023.10:g.57935472G>A	(Likely) benign	1 lab	d605fe19b7
3:132438579 NPHP3 A>G	3	132438579	132438579	A	G	NPHP3	c.489T>C	NM_153240.4	NP_694972.3:p.(His163=)	NC_000003.11:g.132438579A>G	(Likely) benign	1 lab	d6071bd4e4
X:140969280 MAGEC3 G>A	X	140969280	140969280	G	A	MAGEC3	c.607G>A	NM_138702.1	NP_619647.1:p.(Glu203Lys)	NC_000023.10:g.140969280G>A	(Likely) benign	1 lab	d607292292
6:166580220 TBXT G>A	6	166580220	166580220	G	A	TBXT	c.331C>T	NM_003181.3	NP_003172.1:p.(Pro111Ser)	NC_000006.11:g.166580220G>A	VUS	1 lab	d607dd8f1b
11:6653480 DCHS1 G>A	11	6653480	6653480	G	A	DCHS1				NC_000011.9:g.6653480G>A	VUS	1 lab	d609751be8
15:82444469 EFL1 T>C	15	82444469	82444469	T	C	EFL1	c.2326A>G	NM_001322845.1	NP_001309774.1:p.(Met776Val)	NC_000015.9:g.82444469T>C	VUS	1 lab	d609ab5ffa
3:148889904 HPS3 G>A	3	148889904	148889904	G	A	HPS3	c.2910G>A	NM_032383.4	NP_115759.2:p.(Val970=)	NC_000003.11:g.148889904G>A	(Likely) benign	1 lab	d60a2b981b
1:5937299 NPHP4 G>C	1	5937299	5937299	G	C	NPHP4	c.2671C>G	NM_015102.4	NP_055917.1:p.(Leu891Val)	NC_000001.10:g.5937299G>C	VUS	1 lab	d60c707b95
9:139840122 C8G G>A	9	139840122	139840122	G	A	C8G	c.175G>A	NM_000606.3	NP_000597.2:p.(Ala59Thr)	NC_000009.11:g.139840122G>A	(Likely) benign	1 lab	d60d270526
15:25616897 UBE3A CCT>C	15	25616897	25616903	CCT	C	UBE3A	c.422_423del	NM_130839.5	NP_570854.1:p.(Glu141GlyfsTer15)	NC_000015.9:g.25616902_25616903del	(Likely) pathogenic	1 lab	d60efb4ff4
1:55474181 BSND G>A	1	55474181	55474181	G	A	BSND	c.843G>A	NM_057176.3	NP_476517.1:p.(Ser281=)	NC_000001.10:g.55474181G>A	(Likely) benign	1 lab	d60f998d70
7:107350620 SLC26A4 G>C	7	107350620	107350620	G	C	SLC26A4	c.2211G>C	NM_000441.1	NP_000432.1:p.(Glu737Asp)	NC_000007.13:g.107350620G>C	(Likely) pathogenic	1 lab	d60ffd1b8f
8:104943496 RIMS2 A>G	8	104943496	104943496	A	G	RIMS2	c.2250A>G	NM_001100117.2	NP_001093587.1:p.(Lys750=)	NC_000008.10:g.104943496A>G	(Likely) benign	1 lab	d613706224
1:152275403 FLG C>T	1	152275403	152275403	C	T	FLG	c.11959G>A	NM_002016.1	NP_002007.1:p.(Gly3987Ser)	NC_000001.10:g.152275403C>T	VUS	1 lab	d615602055
16:2136456 TSC2 G>A	16	2136456	2136456	G	A	TSC2	c.4849+76G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136456G>A	(Likely) benign	1 lab	d616ea212b
5:177421298 PROP1 CT>C	5	177421298	177421299	CT	C	PROP1	c.150del	NM_006261.5	NP_006252.4:p.(Arg53AspfsTer112)	NC_000005.9:g.177421299del	(Likely) pathogenic	1 lab	d61738ade4
15:101718454 CHSY1 G>C	15	101718454	101718454	G	C	CHSY1	c.1548C>G	NM_014918.4	NP_055733.2:p.(Pro516=)	NC_000015.9:g.101718454G>C	(Likely) benign	1 lab	d618b5392c
12:416184 KDM5A T>C	12	416184	416184	T	C	KDM5A	c.4002A>G	NM_001042603.2	NP_001036068.1:p.(Gln1334=)	NC_000012.11:g.416184T>C	VUS	1 lab	d61adb9f7f
10:46246268 WASHC2C G>T	10	46246268	46246268	G	T	WASHC2C	c.334G>T	NM_001367412.1	NP_001354341.1:p.(Val112Leu)	NC_000010.10:g.46246268G>T	(Likely) benign	1 lab	d61c5c003c
14:89205343 EML5 T>G	14	89205343	89205343	T	G	EML5	c.727A>C	NM_183387.3	NP_899243.1:p.(Met243Leu)	NC_000014.8:g.89205343T>G	VUS	1 lab	d61ca698c9
13:100637729 ZIC2 TGCGGCGGCGGCGGCC>T	13	100637729	100637748	TGCGGCGGCGGCGGCC	T	ZIC2	c.1397_1411del	NM_007129.5	NP_009060.2:p.(Ala466_Ala470del)	NC_000013.10:g.100637734_100637748del	(Likely) pathogenic	1 lab	d61d49731e
3:143567095 SLC9A9 G>A	3	143567095	143567095	G	A	SLC9A9	c.70C>T	NM_173653.3	NP_775924.1:p.(Leu24=)	NC_000003.11:g.143567095G>A	(Likely) benign	1 lab	d61dbb3cc6
7:40220571 SUGCT A>C	7	40220571	40220571	A	C	SUGCT	c.147A>C	NM_001193311.1	NP_001180240.1:p.(Glu49Asp)	NC_000007.13:g.40220571A>C	(Likely) benign	1 lab	d61e57f79c
3:123458838 MYLK C>T	3	123458838	123458838	C	T	MYLK	c.384G>A	NM_053025.3	NP_444253.3:p.(Ala128=)	NC_000003.11:g.123458838C>T	(Likely) benign	1 lab	d6200cb99d
16:2134998 TSC2 TCAAA>T	16	2134998	2135005	TCAAA	T	TSC2	c.4544_4547del	NM_000548.5	NP_000539.2:p.(Asn1515SerfsTer60)	NC_000016.9:g.2135002_2135005del	(Likely) pathogenic	1 lab	d621de9f47
2:135911339 RAB3GAP1 C>T	2	135911339	135911339	C	T	RAB3GAP1	c.2182C>T	NM_001172435.1	NP_001165906.1:p.(Arg728Trp)	NC_000002.11:g.135911339C>T	VUS	1 lab	d6237d6646
12:49425640 KMT2D G>A	12	49425640	49425640	G	A	KMT2D	c.12848C>T	NM_003482.3	NP_003473.3:p.(Pro4283Leu)	NC_000012.11:g.49425640G>A	VUS	1 lab	d624ec454f
2:152573996 NEB T>C	2	152573996	152573996	T	C	NEB	c.756A>G	NM_001271208.1	NP_001258137.1:p.(Gln252=)	NC_000002.11:g.152573996T>C	(Likely) benign	1 lab	d6260499c6
16:57775606 KATNB1 C>T	16	57775606	57775606	C	T	KATNB1	c.48C>T	NM_005886.2	NP_005877.2:p.(Ile16=)	NC_000016.9:g.57775606C>T	(Likely) benign	1 lab	d62688a101
X:71521714 CITED1 G>C	X	71521714	71521714	G	C	CITED1	c.441C>G	NM_004143.3	NP_004134.2:p.(Ile147Met)	NC_000023.10:g.71521714G>C	(Likely) benign	1 lab	d626fd6833
17:62008754 CD79B T>C	17	62008754	62008754	T	C	CD79B	c.68-9A>G	NM_000626.3	NP_000617.1:p.?	NC_000017.10:g.62008754T>C	(Likely) benign	1 lab	d62727f19d
16:2136231 TSC2 G>T	16	2136231	2136231	G	T	TSC2	c.4700G>T	NM_000548.3	NP_000539.2:p.(Gly1567Val)	NC_000016.9:g.2136231G>T	(Likely) pathogenic	1 lab	d6274360cc
2:219188095 PNKD G>T	2	219188095	219188095	G	T	PNKD	c.105G>T	NM_022572.4	NP_072094.1:p.(Ala35=)	NC_000002.11:g.219188095G>T	(Likely) benign	1 lab	d62c5645c2
2:168099352 XIRP2 G>A	2	168099352	168099352	G	A	XIRP2	c.1450G>A	NM_152381.5	NP_689594.4:p.(Val484Ile)	NC_000002.11:g.168099352G>A	(Likely) benign	1 lab	d62c9edc3d
7:4830445 AP5Z1 C>A	7	4830445	4830445	C	A	AP5Z1	c.2080C>A	NM_014855.3	NP_055670.1:p.(Pro694Thr)	NC_000007.13:g.4830445C>A	(Likely) benign	1 lab	d62cf6d6cd
9:20770059 FOCAD C>T	9	20770059	20770059	C	T	FOCAD	c.728C>T	NM_017794.4	NP_060264.4:p.(Ala243Val)	NC_000009.11:g.20770059C>T	VUS	1 lab	d62d8d4dfc
X:140966971 MAGEC3 C>A	X	140966971	140966971	C	A	MAGEC3	c.269C>A	NM_138702.1	NP_619647.1:p.(Thr90Asn)	NC_000023.10:g.140966971C>A	(Likely) benign	1 lab	d62d8e2a2f
11:76916585 MYO7A C>T	11	76916585	76916585	C	T	MYO7A	c.5559C>T	NM_000260.3	NP_000251.3:p.(His1853=)	NC_000011.9:g.76916585C>T	(Likely) benign	1 lab	d62e8e1380
14:24003192 ZFHX2 T>C	14	24003192	24003192	T	C	ZFHX2	c.1343A>G	NM_033400.3	NP_207646.2:p.(Asn448Ser)	NC_000014.8:g.24003192T>C	VUS	1 lab	d631271ec3
10:79777462 POLR3A G>A	10	79777462	79777462	G	A	POLR3A	c.1302C>T	NM_007055.3	NP_008986.2:p.(Tyr434=)	NC_000010.10:g.79777462G>A	(Likely) benign	1 lab	d6336c43c6
X:75649149 MAGEE1 G>A	X	75649149	75649149	G	A	MAGEE1	c.826G>A	NM_020932.2	NP_065983.1:p.(Ala276Thr)	NC_000023.10:g.75649149G>A	(Likely) benign	1 lab	d633a8cba7
1:33490091 AK2 G>T	1	33490091	33490091	G	T	AK2	c.27C>A	NM_001319139.1	NP_001306068.1:p.(Gly9=)	NC_000001.10:g.33490091G>T	(Likely) benign	1 lab	d6340abfc2
X:48051682 SSX5 C>T	X	48051682	48051682	C	T	SSX5	c.439G>A	NM_021015.3	NP_066295.3:p.(Gly147Arg)	NC_000023.10:g.48051682C>T	VUS	1 lab	d634aaf512
X:54569441 GNL3L G>A	X	54569441	54569441	G	A	GNL3L	c.360G>A	NM_001184819.2	NP_001171748.1:p.(Thr120=)	NC_000023.10:g.54569441G>A	(Likely) benign	1 lab	d637c29787
1:228466407 OBSCN G>T	1	228466407	228466407	G	T	OBSCN	c.8164G>T	NM_001271223.2	NP_001258152.2:p.(Val2722Leu)	NC_000001.10:g.228466407G>T	VUS	1 lab	d639076c0d
12:39735377 KIF21A C>T	12	39735377	39735377	C	T	KIF21A	c.1851G>A	NM_001173464.1	NP_001166935.1:p.(Glu617=)	NC_000012.11:g.39735377C>T	(Likely) benign	1 lab	d6392b9793
1:197070407 ASPM G>C	1	197070407	197070407	G	C	ASPM	c.7974C>G	NM_018136.4	NP_060606.3:p.(Tyr2658Ter)	NC_000001.10:g.197070407G>C	(Likely) pathogenic	1 lab	d639b5a900
10:30638172 MTPAP A>G	10	30638172	30638172	A	G	MTPAP	c.33T>C	NM_018109.3	NP_060579.3:p.(Arg11=)	NC_000010.10:g.30638172A>G	(Likely) benign	1 lab	d639d85a6c
1:24143169 HMGCL G>A	1	24143169	24143169	G	A	HMGCL	c.344C>T	NM_000191.2	NP_000182.2:p.(Ala115Val)	NC_000001.10:g.24143169G>A	VUS	1 lab	d63bab5864
17:29654783 NF1 T>G	17	29654783	29654783	T	G	NF1	c.5535T>G	NM_001042492.2	NP_001035957.1:p.(Ile1845Met)	NC_000017.10:g.29654783T>G	VUS	1 lab	d63e4bd626
6:7577192 DSP A>G	6	7577192	7577192	A	G	DSP	c.2794A>G	NM_004415.2	NP_004406.2:p.(Asn932Asp)	NC_000006.11:g.7577192A>G	(Likely) benign	1 lab	d63ed93f24
8:48817516 PRKDC C>G	8	48817516	48817516	C	G	PRKDC	c.2955G>C	NM_006904.6	NP_008835.5:p.(Glu985Asp)	NC_000008.10:g.48817516C>G	VUS	1 lab	d63efd0412
8:139749795 COL22A1 G>A	8	139749795	139749795	G	A	COL22A1	c.2111C>T	NM_152888.2	NP_690848.1:p.(Pro704Leu)	NC_000008.10:g.139749795G>A	VUS	1 lab	d642192365
12:21997708 ABCC9 G>A	12	21997708	21997708	G	A	ABCC9	c.3238C>T	NM_020297.2	NP_064693.2:p.(Pro1080Ser)	NC_000012.11:g.21997708G>A	VUS	1 lab	d644fae6de
4:90650365 SNCA C>T	4	90650365	90650365	C	T	SNCA	c.370G>A	NM_000345.3	NP_000336.1:p.(Ala124Thr)	NC_000004.11:g.90650365C>T	(Likely) benign	1 lab	d648beada0
19:51192116 SHANK1 T>G	19	51192116	51192116	T	G	SHANK1	c.2157A>C	NM_016148.4	NP_057232.2:p.(Gly719=)	NC_000019.9:g.51192116T>G	(Likely) benign	1 lab	d6493e8366
3:128628964 ACAD9 G>T	3	128628964	128628964	G	T	ACAD9	c.1664G>T	NM_014049.4	NP_054768.2:p.(Arg555Leu)	NC_000003.11:g.128628964G>T	(Likely) benign	1 lab	d64c2cb70c
11:62159010 ASRGL1 C>T	11	62159010	62159010	C	T	ASRGL1	c.627C>T	NM_025080.3	NP_079356.3:p.(Ala209=)	NC_000011.9:g.62159010C>T	(Likely) benign	1 lab	d64dacb41f
6:32012932 TNXB G>A	6	32012932	32012932	G	A	TNXB	c.10772C>T	NM_019105.6	NP_061978.6:p.(Thr3591Met)	NC_000006.11:g.32012932G>A	VUS	1 lab	d6509a15a5
5:58286737 PDE4D G>GA	5	58286737	58286750	G	GA	PDE4D	c.799-9dup	NM_001197220.1	NP_001184149.1:p.?	NC_000005.9:g.58286750dup	(Likely) benign	1 lab	d65175b80f
7:31855713 PDE1C C>T	7	31855713	31855713	C	T	PDE1C	c.1818G>A	NM_001322058.1	NP_001308987.1:p.(Gln606=)	NC_000007.13:g.31855713C>T	(Likely) benign	1 lab	d652412a22
10:27405269 YME1L1 G>C	10	27405269	27405269	G	C	YME1L1	c.1896C>G	NM_139312.2	NP_647473.1:p.(Ser632=)	NC_000010.10:g.27405269G>C	(Likely) benign	1 lab	d653b6f02d
22:26388395 MYO18B C>T	22	26388395	26388395	C	T	MYO18B	c.6226C>T	NM_001318245.1	NP_001305174.1:p.(Arg2076Trp)	NC_000022.10:g.26388395C>T	VUS	1 lab	d656dfcc91
18:67843964 RTTN T>C	18	67843964	67843964	T	C	RTTN	c.1423A>G	NM_173630.3	NP_775901.3:p.(Ser475Gly)	NC_000018.9:g.67843964T>C	(Likely) benign	1 lab	d657403652
19:51848524 ETFB C>T	19	51848524	51848524	C	T	ETFB	c.982G>A	NM_001014763.1	NP_001014763.1:p.(Val328Ile)	NC_000019.9:g.51848524C>T	(Likely) benign	1 lab	d6593ca7c2
10:75860806 VCL T>C	10	75860806	75860806	T	C	VCL	c.1973T>C	NM_014000.2	NP_054706.1:p.(Val658Ala)	NC_000010.10:g.75860806T>C	(Likely) benign	1 lab	d659469633
15:34130569 RYR3 G>T	15	34130569	34130569	G	T	RYR3	c.12388G>T	NM_001036.4	NP_001027.3:p.(Glu4130Ter)	NC_000015.9:g.34130569G>T	VUS	1 lab	d659f4904c
5:64314141 CWC27 G>A	5	64314141	64314141	G	A	CWC27	c.1412G>A	NM_005869.4	NP_005860.2:p.(Arg471Lys)	NC_000005.9:g.64314141G>A	(Likely) benign	1 lab	d65aedf0f0
13:52599019 ALG11 T>G	13	52599019	52599019	T	G	ALG11	c.1153T>G	NM_001004127.2	NP_001004127.2:p.(Leu385Val)	NC_000013.10:g.52599019T>G	VUS	1 lab	d65c5f0c93
15:57545526 TCF12 G>GT	15	57545526	57545527	G	GT	TCF12	c.1328dup	NM_207037.1	NP_996920.1:p.(Pro445ThrfsTer11)	NC_000015.9:g.57545527dup	(Likely) pathogenic	1 lab	d660c5e23f
12:53224050 KRT79 G>A	12	53224050	53224050	G	A	KRT79	c.725C>T	NM_175834.2	NP_787028.1:p.(Thr242Ile)	NC_000012.11:g.53224050G>A	VUS	1 lab	d661fae42a
X:154306913 BRCC3 G>A	X	154306913	154306913	G	A	BRCC3	c.338G>A	NM_024332.3	NP_077308.1:p.(Arg113His)	NC_000023.10:g.154306913G>A	VUS	1 lab	d662962e9f
11:47353415 MYBPC3 A>G	11	47353415	47353415	A	G	MYBPC3	c.*7T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353415A>G	VUS	1 lab	d663104e2e
3:132231950 DNAJC13 G>A	3	132231950	132231950	G	A	DNAJC13	c.5400+7G>A	NM_001329126.1	NP_001316055.1:p.?	NC_000003.11:g.132231950G>A	(Likely) benign	1 lab	d6632a5b38
5:138652737 MATR3 T>A	5	138652737	138652737	T	A	MATR3	c.1130-5T>A	NM_199189.2	NP_954659.1:p.?	NC_000005.9:g.138652737T>A	VUS	1 lab	d663eee4a2
X:48673806 HDAC6 C>T	X	48673806	48673806	C	T	HDAC6	c.1165C>T	NM_001321226.1	NP_001308155.1:p.(Arg389Cys)	NC_000023.10:g.48673806C>T	VUS	1 lab	d6643f046b
12:8672868 CLEC4D G>A	12	8672868	8672868	G	A	CLEC4D	c.431G>A	NM_080387.5	NP_525126.2:p.(Gly144Glu)	NC_000012.11:g.8672868G>A	VUS	1 lab	d665388930
7:20685410 ABCB5 G>C	7	20685410	20685410	G	C	ABCB5	c.710G>C	NM_001163941.1	NP_001157413.1:p.(Ser237Thr)	NC_000007.13:g.20685410G>C	(Likely) benign	1 lab	d665dc5bf3
11:63987022 FERMT3 C>T	11	63987022	63987022	C	T	FERMT3	c.921C>T	NM_178443.2	NP_848537.1:p.(Ser307=)	NC_000011.9:g.63987022C>T	(Likely) benign	1 lab	d666dd3705
17:29554611 NF1 TG>T	17	29554611	29554613	TG	T	NF1	c.2398del	NM_001042492.3	NP_001035957.1:p.(Glu800LysfsTer21)	NC_000017.10:g.29554613del	(Likely) pathogenic	1 lab	d66770beda
2:26699003 OTOF G>A	2	26699003	26699003	G	A	OTOF	c.2859C>T	NM_194248.2	NP_919224.1:p.(Val953=)	NC_000002.11:g.26699003G>A	(Likely) benign	1 lab	d667853e5f
X:100808476 ARMCX1 G>A	X	100808476	100808476	G	A	ARMCX1	c.563G>A	NM_016608.1	NP_057692.1:p.(Arg188Gln)	NC_000023.10:g.100808476G>A	VUS	1 lab	d668c84753
X:17710578 NHS A>G	X	17710578	17710578	A	G	NHS	c.842A>G	NM_001291867.1	NP_001278796.1:p.(His281Arg)	NC_000023.10:g.17710578A>G	VUS	1 lab	d66983ea00
X:57407370 FAAH2 T>G	X	57407370	57407370	T	G	FAAH2	c.904T>G	NM_174912.3	NP_777572.2:p.(Leu302Val)	NC_000023.10:g.57407370T>G	(Likely) benign	1 lab	d66c30a394
X:135427843 ADGRG4 C>A	X	135427843	135427843	C	A	ADGRG4	c.1978C>A	NM_153834.3	NP_722576.3:p.(Pro660Thr)	NC_000023.10:g.135427843C>A	VUS	1 lab	d66c5510d8
12:95396513 NDUFA12 A>G	12	95396513	95396513	A	G	NDUFA12	c.169+2T>C	NM_018838.4	NP_061326.1:p.?	NC_000012.11:g.95396513A>G	(Likely) pathogenic	1 lab	d671bccbd3
2:170359604 BBS5 G>C	2	170359604	170359604	G	C	BBS5	c.817-1G>C	NM_152384.2	NP_689597.1:p.?	NC_000002.11:g.170359604G>C	(Likely) pathogenic	1 lab	d672a28f15
11:119216836 MFRP C>T	11	119216836	119216836	C	T	MFRP	c.191G>A	NM_031433.3	NP_113621.1:p.(Arg64His)	NC_000011.9:g.119216836C>T	(Likely) benign	1 lab	d6782ea6ab
18:47566656 MYO5B C>A	18	47566656	47566656	C	A	MYO5B	c.167G>T	NM_001080467.2	NP_001073936.1:p.(Arg56Leu)	NC_000018.9:g.47566656C>A	(Likely) benign	1 lab	d6794f691a
12:53183911 KRT3 C>T	12	53183911	53183911	C	T	KRT3	c.1802G>A	NM_057088.2	NP_476429.2:p.(Gly601Asp)	NC_000012.11:g.53183911C>T	(Likely) benign	1 lab	d679e56756
6:80201302 LCA5 C>A	6	80201302	80201302	C	A	LCA5	c.1098+3G>T	NM_181714.3	NP_859065.2:p.?	NC_000006.11:g.80201302C>A	VUS	1 lab	d67b1c855d
14:93275644 GOLGA5 G>T	14	93275644	93275644	G	T	GOLGA5	c.773-1G>T	NM_005113.3	NP_005104.3:p.?	NC_000014.8:g.93275644G>T	VUS	1 lab	d67ba79ca9
2:220074952 ABCB6 C>T	2	220074952	220074952	C	T	ABCB6	c.2420G>A	NM_005689.2	NP_005680.1:p.(Arg807Gln)	NC_000002.11:g.220074952C>T	VUS	1 lab	d67cae4d86
21:37602873 DOP1B A>G	21	37602873	37602873	A	G	DOP1B	c.1791A>G	NM_001320714.1	NP_001307643.1:p.(Ser597=)	NC_000021.8:g.37602873A>G	(Likely) benign	1 lab	d680c0997a
20:31022579 ASXL1 G>A	20	31022579	31022579	G	A	ASXL1	c.2064G>A	NM_015338.5	NP_056153.2:p.(Thr688=)	NC_000020.10:g.31022579G>A	(Likely) benign	1 lab	d6810a37d7
1:12389963 VPS13D C>T	1	12389963	12389963	C	T	VPS13D	c.8275C>T	NM_015378.4	NP_056193.2:p.(Arg2759Cys)	NC_000001.10:g.12389963C>T	VUS	1 lab	d6816c2be7
1:109439476 GPSM2 A>G	1	109439476	109439476	A	G	GPSM2	c.57-10A>G	NM_013296.5	NP_037428.3:p.?	NC_000001.10:g.109439476A>G	(Likely) benign	1 lab	d68382b202
17:29588812 NF1 TG>T	17	29588812	29588814	TG	T	NF1	c.4663del	NM_001042492.3	NP_001035957.1:p.(Ala1555GlnfsTer19)	NC_000017.10:g.29588814del	(Likely) pathogenic	1 lab	d6860d4fb5
2:97475181 CNNM4 T>G	2	97475181	97475181	T	G	CNNM4	c.2255T>G	NM_020184.3	NP_064569.3:p.(Val752Gly)	NC_000002.11:g.97475181T>G	(Likely) benign	1 lab	d687557348
X:153578240 FLNA G>A	X	153578240	153578240	G	A	FLNA	c.7334-5C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153578240G>A	(Likely) benign	1 lab	d687b4f128
X:15349669 PIGA A>G	X	15349669	15349669	A	G	PIGA	c.384T>C	NM_002641.3	NP_002632.1:p.(His128=)	NC_000023.10:g.15349669A>G	(Likely) benign	1 lab	d6898f5ed3
3:8578969 LMCD1 A>G	3	8578969	8578969	A	G	LMCD1	c.230A>G	NM_001278235.1	NP_001265164.1:p.(Lys77Arg)	NC_000003.11:g.8578969A>G	VUS	1 lab	d689c61e43
15:77287133 PSTPIP1 G>A	15	77287133	77287133	G	A	PSTPIP1	c.3G>A	NM_001321137.1	NP_001308066.1:p.(Met1?)	NC_000015.9:g.77287133G>A	VUS	1 lab	d68a421697
1:109779958 SARS1 C>G	1	109779958	109779958	C	G	SARS1	c.1350C>G	NM_006513.4	NP_006504.2:p.(Ile450Met)	NC_000001.10:g.109779958C>G	VUS	1 lab	d68a5a1278
8:145738102 RECQL4 C>T	8	145738102	145738102	C	T	RECQL4	c.2808G>A	NM_004260.3	NP_004251.3:p.(Glu936=)	NC_000008.10:g.145738102C>T	(Likely) benign	1 lab	d68adba783
6:51512837 PKHD1 A>G	6	51512837	51512837	A	G	PKHD1	c.11390T>C	NM_138694.3	NP_619639.3:p.(Val3797Ala)	NC_000006.11:g.51512837A>G	(Likely) benign	1 lab	d68dc06572
5:140755334 PCDHGA6 A>T	5	140755334	140755334	A	T	PCDHGA6	c.1684A>T	NM_018919.2	NP_061742.1:p.(Ile562Phe)	NC_000005.9:g.140755334A>T	(Likely) benign	1 lab	d68e064f4b
1:2234441 SKI A>G	1	2234441	2234441	A	G	SKI	c.994A>G	NM_003036.3	NP_003027.1:p.(Ile332Val)	NC_000001.10:g.2234441A>G	VUS	1 lab	d68f88627e
17:8141400 CTC1 G>A	17	8141400	8141400	G	A	CTC1	c.596C>T	NM_025099.6	NP_079375.3:p.(Thr199Met)	NC_000017.10:g.8141400G>A	VUS	1 lab	d68fcf1ed0
17:17118544 FLCN A>G	17	17118544	17118544	A	G	FLCN	c.1387T>C	NM_001353230.1	NP_001340159.1:p.(Tyr463His)	NC_000017.10:g.17118544A>G	(Likely) benign	1 lab	d6900d164a
4:103590135 MANBA T>C	4	103590135	103590135	T	C	MANBA	c.1302A>G	NM_005908.3	NP_005899.3:p.(Ala434=)	NC_000004.11:g.103590135T>C	(Likely) benign	1 lab	d690375874
16:3817832 CREBBP C>T	16	3817832	3817832	C	T	CREBBP	c.3139G>A	NM_004380.2	NP_004371.2:p.(Glu1047Lys)	NC_000016.9:g.3817832C>T	VUS	1 lab	d690e64da5
17:29528075 NF1 TA>T	17	29528075	29528077	TA	T	NF1	c.1085del	NM_001042492.3	NP_001035957.1:p.(Lys362SerfsTer14)	NC_000017.10:g.29528077del	(Likely) pathogenic	1 lab	d69183e6be
21:46929336 COL18A1 C>T	21	46929336	46929336	C	T	COL18A1	c.4552C>T	NM_130444.3	NP_569711.2:p.(Arg1518Trp)	NC_000021.8:g.46929336C>T	(Likely) benign	1 lab	d692484376
17:72862613 FDXR G>A	17	72862613	72862613	G	A	FDXR	c.477C>T	NM_001258012.3	NP_001244941.2:p.(Asp159=)	NC_000017.10:g.72862613G>A	(Likely) benign	1 lab	d69295bcce
17:29585457 NF1 A>G	17	29585457	29585457	A	G	NF1	c.4206A>G	NM_000267.3	NP_000258.1:p.(Glu1402=)	NC_000017.10:g.29585457A>G	(Likely) benign	1 lab	d692cd1d8a
9:101891182 TGFBR1 G>A	9	101891182	101891182	G	A	TGFBR1	c.143G>A	NM_001306210.1	NP_001293139.1:p.(Cys48Tyr)	NC_000009.11:g.101891182G>A	VUS	1 lab	d693a060a9
7:75614912 POR G>A	7	75614912	75614912	G	A	POR	c.1414G>A	NM_000941.2	NP_000932.3:p.(Val472Met)	NC_000007.13:g.75614912G>A	VUS	1 lab	d695c6b0b8
12:65672575 MSRB3 C>T	12	65672575	65672575	C	T	MSRB3	c.27C>T	NM_198080.3	NP_932346.1:p.(Arg9=)	NC_000012.11:g.65672575C>T	(Likely) benign	1 lab	d6961f5077
3:53839127 CACNA1D T>C	3	53839127	53839127	T	C	CACNA1D	c.5763T>C	NM_000720.3	NP_000711.1:p.(Asp1921=)	NC_000003.11:g.53839127T>C	(Likely) benign	1 lab	d6963a4de6
10:123325232 FGFR2 GGA>G	10	123325232	123325240	GGA	G	FGFR2	c.110-16_110-15del	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123325239_123325240del	(Likely) benign	1 lab	d696dcbd99
1:33478878 AK2 G>A	1	33478878	33478878	G	A	AK2				NC_000001.10:g.33478878G>A	(Likely) benign	1 lab	d697414642
16:1496678 CLCN7 C>T	16	1496678	1496678	C	T	CLCN7	c.2372G>A	NM_001287.5	NP_001278.1:p.(Arg791His)	NC_000016.9:g.1496678C>T	(Likely) benign	1 lab	d69752c9fd
X:5810955 NLGN4X G>T	X	5810955	5810955	G	T	NLGN4X	c.2354C>A	NM_001282145.1	NP_001269074.1:p.(Thr785Lys)	NC_000023.10:g.5810955G>T	VUS	1 lab	d6982f6049
16:2136741 TSC2 C>T	16	2136741	2136741	C	T	TSC2	c.4858C>T	NM_000548.3	NP_000539.2:p.(His1620Tyr)	NC_000016.9:g.2136741C>T	(Likely) pathogenic	1 lab	d6990e4781
17:29663736 NF1 T>TA	17	29663736	29663737	T	TA	NF1	c.6169dup	NM_000267.3	NP_000258.1:p.(Ile2057AsnfsTer18)	NC_000017.10:g.29663737dup	(Likely) pathogenic	1 lab	d699bbdcb2
15:65370251 KBTBD13 C>G	15	65370251	65370251	C	G	KBTBD13	c.1098C>G	NM_001101362.2	NP_001094832.1:p.(His366Gln)	NC_000015.9:g.65370251C>G	(Likely) benign	1 lab	d699f0c8c9
X:48775899 PIM2 C>G	X	48775899	48775899	C	G	PIM2	c.85G>C	NM_006875.3	NP_006866.2:p.(Glu29Gln)	NC_000023.10:g.48775899C>G	VUS	1 lab	d69dee8610
19:1009366 GRIN3B A>ACGGC	19	1009366	1009372	A	ACGGC	GRIN3B	c.2900_2903dup	NM_138690.2	NP_619635.1:p.(Ala972ArgfsTer25)	NC_000019.9:g.1009369_1009372dup	VUS	1 lab	d69f38786b
15:62261612 VPS13C T>C	15	62261612	62261612	T	C	VPS13C	c.2797A>G	NM_001018088.2	NP_001018098.1:p.(Thr933Ala)	NC_000015.9:g.62261612T>C	(Likely) benign	1 lab	d69f9b7c54
9:13136808 MPDZ A>G	9	13136808	13136808	A	G	MPDZ	c.4201-6T>C	NM_003829.4	NP_003820.2:p.?	NC_000009.11:g.13136808A>G	(Likely) benign	1 lab	d6a2f6ab8a
19:828343 AZU1 CATGCCCGCTTCGTG>C	19	828343	828360	CATGCCCGCTTCGTG	C	AZU1	c.176_189del	NM_001700.5	NP_001691.1:p.(Ala59AspfsTer14)	NC_000019.9:g.828347_828360del	VUS	1 lab	d6a2f8ef3c
10:73572595 CDH23 A>T	10	73572595	73572595	A	T	CDH23	c.9581A>T	NM_022124.5	NP_071407.4:p.(Glu3194Val)	NC_000010.10:g.73572595A>T	VUS	1 lab	d6a403a21f
17:8138099 CTC1 G>T	17	8138099	8138099	G	T	CTC1	c.1585C>A	NM_025099.6	NP_079375.3:p.(Leu529Ile)	NC_000017.10:g.8138099G>T	VUS	1 lab	d6a8813246
X:118148189 LONRF3 C>G	X	118148189	118148189	C	G	LONRF3	c.1994C>G	NM_001031855.2	NP_001027026.1:p.(Ala665Gly)	NC_000023.10:g.118148189C>G	VUS	1 lab	d6a8fe8a34
13:108862103 LIG4 CGA>C	13	108862103	108862112	CGA	C	LIG4	c.1512_1513del	NM_206937.2	NP_996820.1:p.(Arg505CysfsTer12)	NC_000013.10:g.108862111_108862112del	(Likely) pathogenic	1 lab	d6a95af7f4
16:3705479 DNASE1 G>C	16	3705479	3705479	G	C	DNASE1	c.105G>C	NM_005223.3	NP_005214.2:p.(Glu35Asp)	NC_000016.9:g.3705479G>C	(Likely) benign	1 lab	d6a9bb7da4
11:34982001 PDHX G>C	11	34982001	34982001	G	C	PDHX	c.577G>C	NM_003477.2	NP_003468.2:p.(Glu193Gln)	NC_000011.9:g.34982001G>C	(Likely) benign	1 lab	d6aa934f82
16:88779307 CTU2 C>A	16	88779307	88779307	C	A	CTU2	c.731C>A	NM_001012759.3	NP_001012777.1:p.(Thr244Asn)	NC_000016.9:g.88779307C>A	(Likely) benign	1 lab	d6ac0c868f
17:29667614 NF1 T>C	17	29667614	29667614	T	C	NF1	c.6950T>C	NM_000267.3	NP_000258.1:p.(Leu2317Pro)	NC_000017.10:g.29667614T>C	(Likely) pathogenic	1 lab	d6ac2f5e65
X:125954740 PRR32 A>G	X	125954740	125954740	A	G	PRR32	c.119A>G	NM_001122716.1	NP_001116188.1:p.(Lys40Arg)	NC_000023.10:g.125954740A>G	(Likely) benign	1 lab	d6ad0b5bc4
15:23892722 MAGEL2 G>A	15	23892722	23892722	G	A	MAGEL2	c.168C>T	NM_019066.4	NP_061939.3:p.(Ala56=)	NC_000015.9:g.23892722G>A	(Likely) benign	1 lab	d6aebac0da
3:170184868 SLC7A14 T>A	3	170184868	170184868	T	A	SLC7A14	c.2291A>T	NM_020949.2	NP_066000.2:p.(Asp764Val)	NC_000003.11:g.170184868T>A	VUS	1 lab	d6af5b8808
17:8792171 PIK3R5 T>C	17	8792171	8792171	T	C	PIK3R5	c.933A>G	NM_014308.3	NP_055123.2:p.(Leu311=)	NC_000017.10:g.8792171T>C	(Likely) benign	1 lab	d6afece725
1:86361722 COL24A1 T>TTTTTTC	1	86361722	86361723	T	TTTTTTC	COL24A1	c.2858_2859insGAAAAA	NM_152890.6	NP_690850.2:p.(Arg953_Gly954insLysLys)	NC_000001.10:g.86361722_86361723insTTTTTC	(Likely) pathogenic	1 lab	d6b07d71ac
2:73679457 ALMS1 A>G	2	73679457	73679457	A	G	ALMS1	c.5806A>G	NM_015120.4	NP_055935.4:p.(Thr1936Ala)	NC_000002.11:g.73679457A>G	VUS	1 lab	d6b222366f
19:42392137 ARHGEF1 C>T	19	42392137	42392137	C	T	ARHGEF1	c.29C>T	NM_199002.1	NP_945353.1:p.(Pro10Leu)	NC_000019.9:g.42392137C>T	VUS	1 lab	d6b24a5641
15:23891366 MAGEL2 G>A	15	23891366	23891366	G	A	MAGEL2	c.1524C>T	NM_019066.4	NP_061939.3:p.(Ala508=)	NC_000015.9:g.23891366G>A	(Likely) benign	1 lab	d6b823c33b
3:150404085 ERICH6 C>T	3	150404085	150404085	C	T	ERICH6	c.610G>A	NM_152394.5	NP_689607.2:p.(Glu204Lys)	NC_000003.11:g.150404085C>T	VUS	1 lab	d6b93d6893
9:128113011 GAPVD1 C>T	9	128113011	128113011	C	T	GAPVD1	c.3429C>T	NM_001282680.2	NP_001269609.1:p.(Phe1143=)	NC_000009.11:g.128113011C>T	(Likely) benign	1 lab	d6bb471380
17:63223429 RGS9 C>T	17	63223429	63223429	C	T	RGS9	c.1929C>T	NM_003835.3	NP_003826.2:p.(Ser643=)	NC_000017.10:g.63223429C>T	(Likely) benign	1 lab	d6bbaa4ce2
15:48779590 FBN1 C>T	15	48779590	48779590	C	T	FBN1	c.3382G>A	NM_000138.4	NP_000129.3:p.(Val1128Ile)	NC_000015.9:g.48779590C>T	(Likely) benign	1 lab	d6bca3c194
2:179604071 TTN G>A	2	179604071	179604071	G	A	TTN	c.13889C>T	NM_001267550.1	NP_001254479.1:p.(Thr4630Ile)	NC_000002.11:g.179604071G>A	VUS	1 lab	d6c0d93a5c
4:114278188 ANK2 C>T	4	114278188	114278188	C	T	ANK2	c.8414C>T	NM_001148.4	NP_001139.3:p.(Pro2805Leu)	NC_000004.11:g.114278188C>T	(Likely) benign	1 lab	d6c3723a1f
6:2948568 SERPINB6 G>A	6	2948568	2948568	G	A	SERPINB6	c.1095C>T	NM_001297699.1	NP_001284628.1:p.(Asn365=)	NC_000006.11:g.2948568G>A	(Likely) benign	1 lab	d6c4649fbd
18:67794886 RTTN T>C	18	67794886	67794886	T	C	RTTN	c.3235A>G	NM_173630.3	NP_775901.3:p.(Ile1079Val)	NC_000018.9:g.67794886T>C	(Likely) benign	1 lab	d6c4ce20ad
X:123519720 TENM1 G>C	X	123519720	123519720	G	C	TENM1	c.5883C>G	NM_001163278.1	NP_001156750.1:p.(Gly1961=)	NC_000023.10:g.123519720G>C	(Likely) benign	1 lab	d6c5770eff
9:134501760 RAPGEF1 T>A	9	134501760	134501760	T	A	RAPGEF1	c.1254A>T	NM_198679.1	NP_941372.1:p.(Ala418=)	NC_000009.11:g.134501760T>A	(Likely) benign	1 lab	d6c5e5414c
20:50407774 SALL4 A>C	20	50407774	50407774	A	C	SALL4	c.1248T>G	NM_020436.3	NP_065169.1:p.(Gly416=)	NC_000020.10:g.50407774A>C	(Likely) benign	1 lab	d6c714a073
15:89820103 FANCI T>C	15	89820103	89820103	T	C	FANCI	c.1274T>C	NM_001113378.1	NP_001106849.1:p.(Ile425Thr)	NC_000015.9:g.89820103T>C	VUS	1 lab	d6c8be4b8a
7:117199591 CFTR C>T	7	117199591	117199591	C	T	CFTR	c.1466C>T	NM_000492.3	NP_000483.3:p.(Ser489Leu)	NC_000007.13:g.117199591C>T	VUS	1 lab	d6c91d707a
1:120458940 NOTCH2 CAG>C	1	120458940	120458945	CAG	C	NOTCH2	c.6403_6404del	NM_024408.4	NP_077719.2:p.(Leu2135GlufsTer2)	NC_000001.10:g.120458944_120458945del	(Likely) pathogenic	1 lab	d6c9217728
8:118830770 EXT1 C>G	8	118830770	118830770	C	G	EXT1	c.1537-1G>C	NM_000127.2	NP_000118.2:p.?	NC_000008.10:g.118830770C>G	(Likely) pathogenic	1 lab	d6ca03c9b5
7:103130264 RELN C>T	7	103130264	103130264	C	T	RELN	c.9688G>A	NM_005045.3	NP_005036.2:p.(Ala3230Thr)	NC_000007.13:g.103130264C>T	VUS	1 lab	d6cbd0817a
2:25994410 ASXL2 C>T	2	25994410	25994410	C	T	ASXL2	c.404-1G>A	NM_018263.5	NP_060733.4:p.?	NC_000002.11:g.25994410C>T	(Likely) pathogenic	1 lab	d6cc1443ab
17:76472719 DNAH17 C>T	17	76472719	76472719	C	T	DNAH17	c.8089G>A	NM_173628.3	NP_775899.3:p.(Val2697Ile)	NC_000017.10:g.76472719C>T	VUS	1 lab	d6cca7aa10
7:19156788 TWIST1 CG>C	7	19156788	19156791	CG	C	TWIST1	c.156del	NM_000474.4	NP_000465.1:p.(Gly53AlafsTer72)	NC_000007.13:g.19156791del	(Likely) pathogenic	1 lab	d6cd345495
15:85326734 ZNF592 A>G	15	85326734	85326734	A	G	ZNF592	c.828A>G	NM_014630.2	NP_055445.2:p.(Pro276=)	NC_000015.9:g.85326734A>G	(Likely) benign	1 lab	d6cd399ca5
19:51883523 LIM2 GAGA>G	19	51883523	51883531	GAGA	G	LIM2	c.461-10_461-8del	NM_001161748.2	NP_001155220.1:p.?	NC_000019.9:g.51883529_51883531del	VUS	1 lab	d6cd63bcd7
17:11543630 DNAH9 C>A	17	11543630	11543630	C	A	DNAH9	c.1830C>A	NM_001372.3	NP_001363.2:p.(Gly610=)	NC_000017.10:g.11543630C>A	(Likely) benign	1 lab	d6cd988c9e
12:6166198 VWF G>C	12	6166198	6166198	G	C	VWF	c.1770C>G	NM_000552.3	NP_000543.2:p.(Pro590=)	NC_000012.11:g.6166198G>C	(Likely) benign	1 lab	d6ce87180a
19:42474601 ATP1A3 G>A	19	42474601	42474601	G	A	ATP1A3	c.2396C>T	NM_001256214.1	NP_001243143.1:p.(Ala799Val)	NC_000019.9:g.42474601G>A	(Likely) benign	1 lab	d6cfbc2f30
7:91843951 KRIT1 ACT>A	7	91843951	91843956	ACT	A	KRIT1	c.1702_1703del	NM_194454.3	NP_919436.1:p.(Ser568Ter)	NC_000007.13:g.91843955_91843956del	(Likely) pathogenic	1 lab	d6d018ef8a
4:88537543 DSPP C>T	4	88537543	88537543	C	T	DSPP	c.3729C>T	NM_014208.3	NP_055023.2:p.(Ser1243=)	NC_000004.11:g.88537543C>T	(Likely) benign	1 lab	d6d15722b4
17:78190903 SGSH G>A	17	78190903	78190903	G	A	SGSH	c.177C>T	NM_001352921.1	NP_001339850.1:p.(Leu59=)	NC_000017.10:g.78190903G>A	(Likely) benign	1 lab	d6d1cd9c4d
X:49020225 MAGIX G>C	X	49020225	49020225	G	C	MAGIX	c.154G>C	NM_024859.3	NP_079135.3:p.(Val52Leu)	NC_000023.10:g.49020225G>C	(Likely) benign	1 lab	d6d23a1ea9
X:118724133 NKRF C>T	X	118724133	118724133	C	T	NKRF	c.1255G>A	NM_001173488.1	NP_001166959.1:p.(Val419Ile)	NC_000023.10:g.118724133C>T	(Likely) benign	1 lab	d6d25640db
1:236973884 MTR A>G	1	236973884	236973884	A	G	MTR	c.491A>G	NM_000254.2	NP_000245.2:p.(Tyr164Cys)	NC_000001.10:g.236973884A>G	VUS	1 lab	d6d4addac5
5:118469654 DMXL1 G>A	5	118469654	118469654	G	A	DMXL1	c.1516G>A	NM_001290322.2	NP_001277251.1:p.(Glu506Lys)	NC_000005.9:g.118469654G>A	(Likely) benign	1 lab	d6d5a11312
16:2138077 TSC2 G>C	16	2138077	2138077	G	C	TSC2	c.5097G>C	NM_000548.3	NP_000539.2:p.(Val1699=)	NC_000016.9:g.2138077G>C	(Likely) benign	1 lab	d6d981bbe3
4:3076640 HTT CAG>C	4	3076640	3076642	CAG	C	HTT	c.89_90del	NM_001388492.1	NP_001375421.1:p.(Gln30ProfsTer52)	NC_000004.11:g.3076641_3076642del	(Likely) benign	1 lab	d6da654c9f
20:36855621 KIAA1755 G>A	20	36855621	36855621	G	A	KIAA1755	c.1987C>T	NM_001029864.1	NP_001025035.1:p.(Arg663Trp)	NC_000020.10:g.36855621G>A	(Likely) benign	1 lab	d6e01f0632
11:46727387 ZNF408 G>A	11	46727387	46727387	G	A	ZNF408	c.2137G>A	NM_024741.2	NP_079017.1:p.(Val713Met)	NC_000011.9:g.46727387G>A	VUS	1 lab	d6e20ac73f
6:34826532 BLTP3A G>A	6	34826532	34826532	G	A	BLTP3A	c.2399G>A	NM_017754.4	NP_060224.3:p.(Gly800Asp)	NC_000006.11:g.34826532G>A	(Likely) benign	1 lab	d6e27b7c5e
15:45401045 DUOX2 G>A	15	45401045	45401045	G	A	DUOX2	c.1340C>T	NM_014080.4	NP_054799.4:p.(Ala447Val)	NC_000015.9:g.45401045G>A	(Likely) benign	1 lab	d6e2f0fa1a
12:980515 WNK1 G>A	12	980515	980515	G	A	WNK1	c.3462+1G>A	NM_001184985.1	NP_001171914.1:p.?	NC_000012.11:g.980515G>A	VUS	1 lab	d6e58e217b
6:152688435 SYNE1 G>A	6	152688435	152688435	G	A	SYNE1	c.9890C>T	NM_182961.3	NP_892006.3:p.(Thr3297Met)	NC_000006.11:g.152688435G>A	(Likely) benign	1 lab	d6e7043c34
10:55700664 PCDH15 T>C	10	55700664	55700664	T	C	PCDH15	c.3194A>G	NM_001354429.1	NP_001341358.1:p.(Gln1065Arg)	NC_000010.10:g.55700664T>C	VUS	1 lab	d6e866d9a1
15:91292792 BLM AAC>A	15	91292792	91292797	AAC	A	BLM	c.298_299del	NM_000057.4	NP_000048.1:p.(Gln100GlufsTer42)	NC_000015.9:g.91292796_91292797del	(Likely) pathogenic	1 lab	d6e8e2bc48
16:16259598 ABCC6 A>C	16	16259598	16259598	A	C	ABCC6	c.2846T>G	NM_001351800.1	NP_001338729.1:p.(Leu949Arg)	NC_000016.9:g.16259598A>C	VUS	1 lab	d6e9662e0d
17:68172101 KCNJ2 G>C	17	68172101	68172101	G	C	KCNJ2	c.921G>C	NM_000891.2	NP_000882.1:p.(Met307Ile)	NC_000017.10:g.68172101G>C	VUS	1 lab	d6ead4621c
19:47987230 KPTN C>T	19	47987230	47987230	C	T	KPTN	c.188G>A	NM_007059.3	NP_008990.2:p.(Arg63Gln)	NC_000019.9:g.47987230C>T	VUS	1 lab	d6ec312ed8
X:152958549 SLC6A8 G>A	X	152958549	152958549	G	A	SLC6A8	c.831G>A	NM_005629.3	NP_005620.1:p.(Val277=)	NC_000023.10:g.152958549G>A	(Likely) benign	1 lab	d6ed920a0e
5:127648490 FBN2 G>A	5	127648490	127648490	G	A	FBN2	c.4718-3C>T	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127648490G>A	VUS	1 lab	d6edfd8db9
11:4661905 OR51D1 A>G	11	4661905	4661905	A	G	OR51D1	c.885A>G	NM_001004751.2	NP_001004751.1:p.(Leu295=)	NC_000011.9:g.4661905A>G	(Likely) benign	1 lab	d6ef809bc4
3:46008584 FYCO1 T>C	3	46008584	46008584	T	C	FYCO1	c.2242A>G	NM_024513.3	NP_078789.2:p.(Thr748Ala)	NC_000003.11:g.46008584T>C	(Likely) benign	1 lab	d6efb57756
X:47086412 CDK16 G>A	X	47086412	47086412	G	A	CDK16	c.1173G>A	NM_033018.3	NP_148978.2:p.(Thr391=)	NC_000023.10:g.47086412G>A	(Likely) benign	1 lab	d6f03fc2c8
10:72360577 PRF1 G>A	10	72360577	72360577	G	A	PRF1	c.82C>T	NM_001083116.1	NP_001076585.1:p.(Arg28Cys)	NC_000010.10:g.72360577G>A	VUS	1 lab	d6f0c39cde
20:61511126 DIDO1 G>C	20	61511126	61511126	G	C	DIDO1	c.6182C>G	NM_033081.2	NP_149072.2:p.(Ala2061Gly)	NC_000020.10:g.61511126G>C	VUS	1 lab	d6f3729588
8:100833621 VPS13B G>T	8	100833621	100833621	G	T	VPS13B	c.9169G>T	NM_017890.4	NP_060360.3:p.(Asp3057Tyr)	NC_000008.10:g.100833621G>T	(Likely) benign	1 lab	d6f394fe81
X:69458059 AWAT1 T>C	X	69458059	69458059	T	C	AWAT1	c.461-3T>C	NM_001013579.2	NP_001013597.1:p.?	NC_000023.10:g.69458059T>C	(Likely) benign	1 lab	d6f65ed417
19:17581378 SLC27A1 C>G	19	17581378	17581378	C	G	SLC27A1	c.29C>G	NM_198580.3	NP_940982.1:p.(Ser10Trp)	NC_000019.9:g.17581378C>G	VUS	1 lab	d6f7d35715
17:8141366 CTC1 G>C	17	8141366	8141366	G	C	CTC1	c.630C>G	NM_025099.6	NP_079375.3:p.(Ser210=)	NC_000017.10:g.8141366G>C	(Likely) benign	1 lab	d6f838b2c8
19:48699440 ZSWIM9 A>C	19	48699440	48699440	A	C	ZSWIM9	c.2119A>C	NM_199341.4	NP_955373.3:p.(Lys707Gln)	NC_000019.9:g.48699440A>C	VUS	1 lab	d6f92d414d
19:42400504 ARHGEF1 T>G	19	42400504	42400504	T	G	ARHGEF1	c.1115T>G	NM_199002.1	NP_945353.1:p.(Leu372Arg)	NC_000019.9:g.42400504T>G	VUS	1 lab	d6f9b24183
3:121516065 IQCB1 C>T	3	121516065	121516065	C	T	IQCB1	c.776G>A	NM_001023570.3	NP_001018864.2:p.(Arg259His)	NC_000003.11:g.121516065C>T	(Likely) benign	1 lab	d6fb893ece
9:135176029 SETX G>A	9	135176029	135176029	G	A	SETX	c.5536C>T	NM_015046.5	NP_055861.3:p.(Arg1846Cys)	NC_000009.11:g.135176029G>A	VUS	1 lab	d6fbc1a80b
22:29750746 AP1B1 G>A	22	29750746	29750746	G	A	AP1B1	c.831C>T	NM_001127.3	NP_001118.3:p.(Tyr277=)	NC_000022.10:g.29750746G>A	(Likely) benign	1 lab	d6fc12c65f
16:14721121 PARN C>T	16	14721121	14721121	C	T	PARN	c.245+5G>A	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14721121C>T	VUS	1 lab	d6fc72c60f
9:137620578 COL5A1 C>T	9	137620578	137620578	C	T	COL5A1	c.849C>T	NM_000093.4	NP_000084.3:p.(Pro283=)	NC_000009.11:g.137620578C>T	(Likely) benign	1 lab	d6ff6873fe
5:68805588 OCLN C>G	5	68805588	68805588	C	G	OCLN	c.671C>G	NM_002538.3	NP_002529.1:p.(Ala224Gly)	NC_000005.9:g.68805588C>G	VUS	1 lab	d6ffa57e47
7:158734669 DYNC2I1 G>A	7	158734669	158734669	G	A	DYNC2I1	c.1584G>A	NM_001350918.1	NP_001337847.1:p.(Pro528=)	NC_000007.13:g.158734669G>A	(Likely) benign	1 lab	d701737cea
X:72674416 CDX4 G>A	X	72674416	72674416	G	A	CDX4	c.850G>A	NM_005193.1	NP_005184.1:p.(Glu284Lys)	NC_000023.10:g.72674416G>A	VUS	1 lab	d7038e125d
5:138160437 CTNNA1 G>A	5	138160437	138160437	G	A	CTNNA1	c.807G>A	NM_001323982.1	NP_001310911.1:p.(Gln269=)	NC_000005.9:g.138160437G>A	(Likely) benign	1 lab	d703b92b28
13:94482586 GPC6 C>A	13	94482586	94482586	C	A	GPC6	c.499C>A	NM_005708.4	NP_005699.1:p.(Arg167=)	NC_000013.10:g.94482586C>A	(Likely) benign	1 lab	d70653df06
16:72141290 DHX38 C>T	16	72141290	72141290	C	T	DHX38	c.2652C>T	NM_014003.3	NP_054722.2:p.(Pro884=)	NC_000016.9:g.72141290C>T	(Likely) benign	1 lab	d706991b56
16:56899174 SLC12A3 G>A	16	56899174	56899174	G	A	SLC12A3	c.27G>A	NM_000339.2	NP_000330.2:p.(Thr9=)	NC_000016.9:g.56899174G>A	(Likely) benign	1 lab	d7097e8f4c
10:95422803 PDE6C A>G	10	95422803	95422803	A	G	PDE6C	c.2386A>G	NM_006204.3	NP_006195.3:p.(Lys796Glu)	NC_000010.10:g.95422803A>G	(Likely) benign	1 lab	d70b960f73
16:1413032 GNPTG G>A	16	1413032	1413032	G	A	GNPTG	c.858G>A	NM_032520.4	NP_115909.1:p.(Thr286=)	NC_000016.9:g.1413032G>A	(Likely) benign	1 lab	d70fa64f40
9:13190275 MPDZ G>T	9	13190275	13190275	G	T	MPDZ	c.1992C>A	NM_003829.4	NP_003820.2:p.(Phe664Leu)	NC_000009.11:g.13190275G>T	VUS	1 lab	d70fc0b2e0
X:148062286 AFF2 G>A	X	148062286	148062286	G	A	AFF2	c.3589G>A	NM_002025.3	NP_002016.2:p.(Ala1197Thr)	NC_000023.10:g.148062286G>A	(Likely) benign	1 lab	d7100b7cf7
2:15427236 NBAS A>C	2	15427236	15427236	A	C	NBAS	c.5099T>G	NM_015909.3	NP_056993.2:p.(Val1700Gly)	NC_000002.11:g.15427236A>C	VUS	1 lab	d710650c64
2:119739809 MARCO G>T	2	119739809	119739809	G	T	MARCO	c.979G>T	NM_006770.3	NP_006761.1:p.(Ala327Ser)	NC_000002.11:g.119739809G>T	(Likely) benign	1 lab	d711403398
1:158812046 MNDA C>T	1	158812046	158812046	C	T	MNDA	c.103C>T	NM_002432.3	NP_002423.1:p.(Leu35=)	NC_000001.10:g.158812046C>T	(Likely) benign	1 lab	d71181371e
11:66475224 SPTBN2 C>T	11	66475224	66475224	C	T	SPTBN2	c.1416G>A	NM_006946.3	NP_008877.1:p.(Thr472=)	NC_000011.9:g.66475224C>T	(Likely) benign	1 lab	d7119b8f29
10:387189 DIP2C G>A	10	387189	387189	G	A	DIP2C	c.3534C>T	NM_014974.3	NP_055789.1:p.(Ile1178=)	NC_000010.10:g.387189G>A	(Likely) benign	1 lab	d71223d79f
21:46876734 COL18A1 C>T	21	46876734	46876734	C	T	COL18A1	c.1290C>T	NM_130444.3	NP_569711.2:p.(Val430=)	NC_000021.8:g.46876734C>T	(Likely) benign	1 lab	d71cd299fc
3:142279218 ATR G>T	3	142279218	142279218	G	T	ATR	c.1428C>A	NM_001184.3	NP_001175.2:p.(Ser476=)	NC_000003.11:g.142279218G>T	(Likely) benign	1 lab	d71d8ae8e2
X:134125163 SMIM10 G>GC	X	134125163	134125164	G	GC	SMIM10	c.39dup	NM_001163438.2	NP_001156910.1:p.(Ile14HisfsTer87)	NC_000023.10:g.134125164dup	VUS	1 lab	d71db32e0c
1:120468134 NOTCH2 C>T	1	120468134	120468134	C	T	NOTCH2	c.4305G>A	NM_024408.3	NP_077719.2:p.(Arg1435=)	NC_000001.10:g.120468134C>T	(Likely) benign	1 lab	d71e8102c0
13:32376348 RXFP2 T>C	13	32376348	32376348	T	C	RXFP2	c.2071T>C	NM_130806.4	NP_570718.1:p.(Tyr691His)	NC_000013.10:g.32376348T>C	VUS	1 lab	d71ead551d
20:45354883 SLC2A10 G>A	20	45354883	45354883	G	A	SLC2A10	c.1208G>A	NM_030777.3	NP_110404.1:p.(Arg403Gln)	NC_000020.10:g.45354883G>A	(Likely) benign	1 lab	d71ec8f620
X:39932139 BCOR G>A	X	39932139	39932139	G	A	BCOR	c.2460C>T	NM_001123385.1	NP_001116857.1:p.(Asn820=)	NC_000023.10:g.39932139G>A	(Likely) benign	1 lab	d71edec413
17:29556431 NF1 T>A	17	29556431	29556431	T	A	NF1	c.2798T>A	NM_000267.3	NP_000258.1:p.(Leu933Gln)	NC_000017.10:g.29556431T>A	VUS	1 lab	d71ee97bb2
17:29685632 NF1 AC>A	17	29685632	29685634	AC	A	NF1	c.8107del	NM_001042492.3	NP_001035957.1:p.(Leu2703CysfsTer36)	NC_000017.10:g.29685634del	(Likely) pathogenic	1 lab	d71f2a63f2
1:1458190 ATAD3A C>A	1	1458190	1458190	C	A	ATAD3A	c.961C>A	NM_018188.4	NP_060658.3:p.(Arg321Ser)	NC_000001.10:g.1458190C>A	VUS	1 lab	d720345f1c
5:82835587 VCAN A>G	5	82835587	82835587	A	G	VCAN	c.6765A>G	NM_004385.4	NP_004376.2:p.(Gly2255=)	NC_000005.9:g.82835587A>G	(Likely) benign	1 lab	d720f52747
1:98165107 DPYD C>T	1	98165107	98165107	C	T	DPYD	c.484-4G>A	NM_000110.3	NP_000101.2:p.?	NC_000001.10:g.98165107C>T	(Likely) benign	1 lab	d721e258ae
X:22095750 PHEX A>T	X	22095750	22095750	A	T	PHEX	c.593A>T	NM_000444.5	NP_000435.3:p.(Tyr198Phe)	NC_000023.10:g.22095750A>T	(Likely) benign	1 lab	d722ed5c9c
5:39201980 FYB1 G>C	5	39201980	39201980	G	C	FYB1	c.1083C>G	NM_001349333.1	NP_001336262.1:p.(Asn361Lys)	NC_000005.9:g.39201980G>C	(Likely) benign	1 lab	d7260a081e
2:179485642 TTN T>C	2	179485642	179485642	T	C	TTN	c.45695A>G	NM_001267550.1	NP_001254479.1:p.(Asn15232Ser)	NC_000002.11:g.179485642T>C	VUS	1 lab	d7261fbe57
X:128724132 OCRL TCACTA>T	X	128724132	128724137	TCACTA	T	OCRL	c.2592_2596del	NM_000276.4	NP_000267.2:p.(Phe864LeufsTer18)	NC_000023.10:g.128724133_128724137del	(Likely) pathogenic	1 lab	d728368a59
X:79973152 BRWD3 C>T	X	79973152	79973152	C	T	BRWD3	c.2151G>A	NM_153252.4	NP_694984.4:p.(Arg717=)	NC_000023.10:g.79973152C>T	(Likely) benign	1 lab	d72961132d
1:210187118 SYT14 A>G	1	210187118	210187118	A	G	SYT14	c.88A>G	NM_001256006.1	NP_001242935.1:p.(Arg30Gly)	NC_000001.10:g.210187118A>G	VUS	1 lab	d72c2ec4c4
18:44057733 LOXHD1 A>G	18	44057733	44057733	A	G	LOXHD1	c.6338T>C	NM_144612.6	NP_653213.6:p.(Phe2113Ser)	NC_000018.9:g.44057733A>G	(Likely) benign	1 lab	d72d8f5c78
1:65830312 DNAJC6 TG>T	1	65830312	65830314	TG	T	DNAJC6	c.194-4del	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830314del	(Likely) benign	1 lab	d72e45a1c5
1:38397372 INPP5B C>A	1	38397372	38397372	C	A	INPP5B	c.13G>T	NM_001297434.1	NP_001284363.1:p.(Ala5Ser)	NC_000001.10:g.38397372C>A	(Likely) benign	1 lab	d72efca818
2:179399876 TTN A>G	2	179399876	179399876	A	G	TTN	c.101466T>C	NM_001267550.1	NP_001254479.1:p.(Ala33822=)	NC_000002.11:g.179399876A>G	(Likely) benign	1 lab	d72f837702
6:2953410 SERPINB6 C>T	6	2953410	2953410	C	T	SERPINB6	c.453G>A	NM_001195291.2	NP_001182220.2:p.(Ala151=)	NC_000006.11:g.2953410C>T	(Likely) benign	1 lab	d72ff3961a
4:123664449 BBS12 G>A	4	123664449	123664449	G	A	BBS12	c.1402G>A	NM_001178007.1	NP_001171478.1:p.(Gly468Arg)	NC_000004.11:g.123664449G>A	VUS	1 lab	d732cf0c40
10:98080430 DNTT G>A	10	98080430	98080430	G	A	DNTT	c.563G>A	NM_001017520.1	NP_001017520.1:p.(Cys188Tyr)	NC_000010.10:g.98080430G>A	(Likely) benign	1 lab	d7332b5060
X:135443734 ADGRG4 C>T	X	135443734	135443734	C	T	ADGRG4	c.7265C>T	NM_153834.3	NP_722576.3:p.(Ala2422Val)	NC_000023.10:g.135443734C>T	VUS	1 lab	d7339acd93
14:58956967 KIAA0586 C>T	14	58956967	58956967	C	T	KIAA0586	c.3858+9C>T	NM_001329943.2	NP_001316872.1:p.?	NC_000014.8:g.58956967C>T	(Likely) benign	1 lab	d733af11a5
8:100523657 VPS13B G>A	8	100523657	100523657	G	A	VPS13B	c.4625G>A	NM_017890.4	NP_060360.3:p.(Arg1542His)	NC_000008.10:g.100523657G>A	VUS	1 lab	d7350ce40d
19:15760772 CYP4F3 A>T	19	15760772	15760772	A	T	CYP4F3	c.697A>T	NM_000896.2	NP_000887.2:p.(Thr233Ser)	NC_000019.9:g.15760772A>T	VUS	1 lab	d7351d1f55
19:8665906 ADAMTS10 C>T	19	8665906	8665906	C	T	ADAMTS10	c.716G>A	NM_030957.3	NP_112219.3:p.(Arg239His)	NC_000019.9:g.8665906C>T	VUS	1 lab	d736eba041
6:79675471 PHIP C>A	6	79675471	79675471	C	A	PHIP	c.3328G>T	NM_017934.6	NP_060404.4:p.(Gly1110Ter)	NC_000006.11:g.79675471C>A	(Likely) pathogenic	1 lab	d737bc0bf4
20:25319883 ABHD12 T>C	20	25319883	25319883	T	C	ABHD12	c.296A>G	NM_001042472.3	NP_001035937.1:p.(Lys99Arg)	NC_000020.10:g.25319883T>C	(Likely) benign	1 lab	d739e8d431
22:25435886 KIAA1671 C>T	22	25435886	25435886	C	T	KIAA1671	c.2789C>T	NM_001145206.1	NP_001138678.1:p.(Pro930Leu)	NC_000022.10:g.25435886C>T	(Likely) benign	1 lab	d73b115615
1:150527059 ADAMTSL4 C>T	1	150527059	150527059	C	T	ADAMTSL4	c.1252C>T	NM_001288608.1	NP_001275537.1:p.(Arg418Cys)	NC_000001.10:g.150527059C>T	(Likely) benign	1 lab	d73c56bb55
6:144837955 UTRN G>A	6	144837955	144837955	G	A	UTRN	c.5412G>A	NM_007124.2	NP_009055.2:p.(Glu1804=)	NC_000006.11:g.144837955G>A	(Likely) benign	1 lab	d73c796314
X:153583289 FLNA AGT>A	X	153583289	153583292	AGT	A	FLNA	c.5119_5120del	NM_001110556.2	NP_001104026.1:p.(Thr1707PhefsTer85)	NC_000023.10:g.153583291_153583292del	(Likely) pathogenic	1 lab	d73d5a8400
6:139694558 CITED2 G>GTGC	6	139694558	139694567	G	GTGC	CITED2	c.521_523dup	NM_006079.4	NP_006070.2:p.(Ser174dup)	NC_000006.11:g.139694565_139694567dup	VUS	1 lab	d73d84a5cc
6:152847224 SYNE1 C>T	6	152847224	152847224	C	T	SYNE1	c.216G>A	NM_182961.3	NP_892006.3:p.(Gly72=)	NC_000006.11:g.152847224C>T	(Likely) benign	1 lab	d73eeea540
8:38109665 DDHD2 C>T	8	38109665	38109665	C	T	DDHD2	c.1477C>T	NM_015214.2	NP_056029.2:p.(Pro493Ser)	NC_000008.10:g.38109665C>T	VUS	1 lab	d741281e21
X:44966738 KDM6A G>A	X	44966738	44966738	G	A	KDM6A	c.4118G>A	NM_001291415.1	NP_001278344.1:p.(Gly1373Glu)	NC_000023.10:g.44966738G>A	VUS	1 lab	d74200a815
5:61668319 KIF2A C>G	5	61668319	61668319	C	G	KIF2A	c.1701C>G	NM_001098511.2	NP_001091981.1:p.(Gly567=)	NC_000005.9:g.61668319C>G	(Likely) benign	1 lab	d744a7642f
19:45867216 ERCC2 T>TG	19	45867216	45867222	T	TG	ERCC2	c.949+27dup	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45867222dup	(Likely) benign	1 lab	d745967c47
X:152960179 SLC6A8 C>G	X	152960179	152960179	C	G	SLC6A8	c.1602C>G	NM_005629.3	NP_005620.1:p.(Ile534Met)	NC_000023.10:g.152960179C>G	VUS	1 lab	d75abccded
X:41088984 USP9X T>C	X	41088984	41088984	T	C	USP9X	c.7383T>C	NM_001039591.3	NP_001034680.2:p.(His2461=)	NC_000023.10:g.41088984T>C	(Likely) benign	1 lab	d74b0547a9
4:5733283 EVC C>G	4	5733283	5733283	C	G	EVC	c.516C>G	NM_153717.2	NP_714928.1:p.(Cys172Trp)	NC_000004.11:g.5733283C>G	VUS	1 lab	d74c353a4d
11:66297363 BBS1 C>A	11	66297363	66297363	C	A	BBS1	c.1413C>A	NM_024649.4	NP_078925.3:p.(Leu471=)	NC_000011.9:g.66297363C>A	(Likely) benign	1 lab	d74f3dbb77
X:2799225 GYG2 C>T	X	2799225	2799225	C	T	GYG2	c.1477C>T	NM_003918.2	NP_003909.2:p.(Gln493Ter)	NC_000023.10:g.2799225C>T	VUS	1 lab	d75057c2a6
12:112036978 ATXN2 G>A	12	112036978	112036978	G	A	ATXN2	c.341C>T	NM_002973.3	NP_002964.3:p.(Pro114Leu)	NC_000012.11:g.112036978G>A	(Likely) benign	1 lab	d750de8263
X:71715088 HDAC8 A>G	X	71715088	71715088	A	G	HDAC8	c.468T>C	NM_001166419.1	NP_001159891.1:p.(Asn156=)	NC_000023.10:g.71715088A>G	(Likely) benign	1 lab	d7513ad4cd
17:42941037 EFTUD2 C>A	17	42941037	42941037	C	A	EFTUD2	c.1399G>T	NM_001258353.1	NP_001245282.1:p.(Asp467Tyr)	NC_000017.10:g.42941037C>A	VUS	1 lab	d753468afb
X:139038830 CXorf66 T>C	X	139038830	139038830	T	C	CXorf66	c.311A>G	NM_001013403.2	NP_001013421.1:p.(Gln104Arg)	NC_000023.10:g.139038830T>C	(Likely) benign	1 lab	d7546b26f9
11:86665923 FZD4 G>A	11	86665923	86665923	G	A	FZD4	c.205C>T	NM_012193.3	NP_036325.2:p.(His69Tyr)	NC_000011.9:g.86665923G>A	(Likely) benign	1 lab	d755215271
6:99885112 USP45 G>A	6	99885112	99885112	G	A	USP45	c.2314+10C>T	NM_001080481.1	NP_001073950.1:p.?	NC_000006.11:g.99885112G>A	(Likely) benign	1 lab	d757891cd0
10:55719605 PCDH15 CTT>C	10	55719605	55719607	CTT	C	PCDH15	c.3010-3_3010-2del	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.55719606_55719607del	(Likely) pathogenic	1 lab	d757abc0af
8:55541277 RP1 A>G	8	55541277	55541277	A	G	RP1	c.4835A>G	NM_006269.1	NP_006260.1:p.(Asn1612Ser)	NC_000008.10:g.55541277A>G	(Likely) benign	1 lab	d757aed922
13:52516529 ATP7B T>C	13	52516529	52516529	T	C	ATP7B	c.3405A>G	NM_000053.3	NP_000044.2:p.(Ala1135=)	NC_000013.10:g.52516529T>C	(Likely) benign	1 lab	d75ca0f14a
X:23019035 DDX53 A>G	X	23019035	23019035	A	G	DDX53	c.861A>G	NM_182699.3	NP_874358.2:p.(Gln287=)	NC_000023.10:g.23019035A>G	(Likely) benign	1 lab	d75ca484b5
X:50658966 BMP15 G>T	X	50658966	50658966	G	T	BMP15	c.538G>T	NM_005448.2	NP_005439.2:p.(Ala180Ser)	NC_000023.10:g.50658966G>T	VUS	1 lab	d75d79f178
17:18039795 MYO15A G>A	17	18039795	18039795	G	A	MYO15A	c.4655+6G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18039795G>A	(Likely) benign	1 lab	d762847028
20:34053864 CEP250 G>T	20	34053864	34053864	G	T	CEP250	c.327G>T	NM_007186.5	NP_009117.2:p.(Arg109Ser)	NC_000020.10:g.34053864G>T	VUS	1 lab	d76301eebc
4:126371478 FAT4 A>G	4	126371478	126371478	A	G	FAT4	c.9313A>G	NM_001291303.1	NP_001278232.1:p.(Ser3105Gly)	NC_000004.11:g.126371478A>G	VUS	1 lab	d76760173b
14:105414866 AHNAK2 C>T	14	105414866	105414866	C	T	AHNAK2	c.6922G>A	NM_138420.3	NP_612429.2:p.(Asp2308Asn)	NC_000014.8:g.105414866C>T	(Likely) benign	1 lab	d768433f5c
8:77895595 PEX2 A>G	8	77895595	77895595	A	G	PEX2	c.820T>C	NM_001172086.1	NP_001165557.1:p.(Phe274Leu)	NC_000008.10:g.77895595A>G	(Likely) benign	1 lab	d768e7d815
7:151919707 KMT2C G>A	7	151919707	151919707	G	A	KMT2C	c.3384C>T	NM_170606.2	NP_733751.2:p.(Asp1128=)	NC_000007.13:g.151919707G>A	(Likely) benign	1 lab	d76951bb4f
11:71906390 FOLR1 T>C	11	71906390	71906390	T	C	FOLR1	c.244T>C	NM_016724.2	NP_057936.1:p.(Tyr82His)	NC_000011.9:g.71906390T>C	VUS	1 lab	d76a73103a
X:53410049 SMC1A A>G	X	53410049	53410049	A	G	SMC1A	c.3033T>C	NM_001281463.1	NP_001268392.1:p.(Ser1011=)	NC_000023.10:g.53410049A>G	(Likely) benign	1 lab	d76acacfbb
1:214815258 CENPF C>T	1	214815258	214815258	C	T	CENPF	c.3577C>T	NM_016343.3	NP_057427.3:p.(Gln1193Ter)	NC_000001.10:g.214815258C>T	(Likely) pathogenic	1 lab	d76ae3bcaa
2:1499888 TPO G>A	2	1499888	1499888	G	A	TPO	c.2134G>A	NM_000547.5	NP_000538.3:p.(Gly712Ser)	NC_000002.11:g.1499888G>A	(Likely) benign	1 lab	d76be2bc5b
20:2384093 TGM6 C>T	20	2384093	2384093	C	T	TGM6	c.1040C>T	NM_198994.2	NP_945345.2:p.(Pro347Leu)	NC_000020.10:g.2384093C>T	VUS	1 lab	d76db8d683
17:18396048 LGALS9C T>C	17	18396048	18396048	T	C	LGALS9C	c.799T>C	NM_001040078.2	NP_001035167.2:p.(Phe267Leu)	NC_000017.10:g.18396048T>C	VUS	1 lab	d76fa2c9be
21:45751836 CFAP410 TGG>T	21	45751836	45751840	TGG	T	CFAP410	c.433_434del	NM_004928.3	NP_004919.1:p.(Pro145ArgfsTer24)	NC_000021.8:g.45751839_45751840del	(Likely) pathogenic	1 lab	d771e6babf
17:2227654 TSR1 T>C	17	2227654	2227654	T	C	TSR1	c.2251A>G	NM_018128.4	NP_060598.3:p.(Met751Val)	NC_000017.10:g.2227654T>C	VUS	1 lab	d773c50340
14:52478331 NID2 C>T	14	52478331	52478331	C	T	NID2	c.3491G>A	NM_007361.4	NP_031387.3:p.(Arg1164Gln)	NC_000014.8:g.52478331C>T	VUS	1 lab	d773ef0f0c
X:19606919 SH3KBP1 T>G	X	19606919	19606919	T	G	SH3KBP1	c.1215A>C	NM_001353891.1	NP_001340820.1:p.(Glu405Asp)	NC_000023.10:g.19606919T>G	VUS	1 lab	d775142ced
12:33031931 PKP2 C>G	12	33031931	33031931	C	G	PKP2	c.259G>C	NM_004572.3	NP_004563.2:p.(Val87Leu)	NC_000012.11:g.33031931C>G	VUS	1 lab	d775a6964d
10:55782888 PCDH15 G>A	10	55782888	55782888	G	A	PCDH15				NC_000010.10:g.55782888G>A	VUS	1 lab	d7773b1df8
17:15929920 TTC19 A>C	17	15929920	15929920	A	C	TTC19	c.577A>C	NM_001271420.1	NP_001258349.1:p.(Ile193Leu)	NC_000017.10:g.15929920A>C	(Likely) benign	1 lab	d777ae3b7e
X:41077860 USP9X C>T	X	41077860	41077860	C	T	USP9X	c.6435+10C>T	NM_001039591.3	NP_001034680.2:p.?	NC_000023.10:g.41077860C>T	(Likely) benign	1 lab	d779c5d723
17:17698740 RAI1 G>A	17	17698740	17698740	G	A	RAI1	c.2478G>A	NM_030665.3	NP_109590.3:p.(Leu826=)	NC_000017.10:g.17698740G>A	(Likely) benign	1 lab	d77a5333e3
22:19482035 CDC45 C>G	22	19482035	19482035	C	G	CDC45	c.548C>G	NM_001178010.2	NP_001171481.1:p.(Ser183Cys)	NC_000022.10:g.19482035C>G	(Likely) benign	1 lab	d77ab0f831
19:3983265 EEF2 G>C	19	3983265	3983265	G	C	EEF2	c.243C>G	NM_001961.3	NP_001952.1:p.(Leu81=)	NC_000019.9:g.3983265G>C	(Likely) benign	1 lab	d77b842d28
19:38573347 SIPA1L3 T>TGGCCTCCCTCAC	19	38573347	38573365	T	TGGCCTCCCTCAC	SIPA1L3	c.1149_1160dup	NM_015073.2	NP_055888.1:p.(Leu384_Ser387dup)	NC_000019.9:g.38573354_38573365dup	VUS	1 lab	d77c8802eb
6:64436481 EYS A>G	6	64436481	64436481	A	G	EYS	c.8227T>C	NM_001292009.1	NP_001278938.1:p.(Leu2743=)	NC_000006.11:g.64436481A>G	(Likely) benign	1 lab	d77cea1cbf
2:32449783 NLRC4 G>A	2	32449783	32449783	G	A	NLRC4	c.2834C>T	NM_021209.4	NP_067032.3:p.(Ala945Val)	NC_000002.11:g.32449783G>A	VUS	1 lab	d77fab2ff3
9:137623935 COL5A1 G>A	9	137623935	137623935	G	A	COL5A1	c.1351G>A	NM_000093.4	NP_000084.3:p.(Glu451Lys)	NC_000009.11:g.137623935G>A	VUS	1 lab	d784e0da09
15:64005692 HERC1 T>C	15	64005692	64005692	T	C	HERC1	c.4323A>G	NM_003922.3	NP_003913.3:p.(Ala1441=)	NC_000015.9:g.64005692T>C	(Likely) benign	1 lab	d7857d161b
21:44485581 CBS A>G	21	44485581	44485581	A	G	CBS	c.267T>C	NM_001321072.1	NP_001308001.1:p.(Asn89=)	NC_000021.8:g.44485581A>G	(Likely) benign	1 lab	d785bd3687
14:105411338 AHNAK2 C>G	14	105411338	105411338	C	G	AHNAK2	c.10450G>C	NM_138420.3	NP_612429.2:p.(Gly3484Arg)	NC_000014.8:g.105411338C>G	(Likely) benign	1 lab	d78607e9f6
1:152275921 FLG C>T	1	152275921	152275921	C	T	FLG	c.11441G>A	NM_002016.1	NP_002007.1:p.(Arg3814His)	NC_000001.10:g.152275921C>T	VUS	1 lab	d786b489f4
13:60348895 DIAPH3 G>A	13	60348895	60348895	G	A	DIAPH3	c.3226C>T	NM_001042517.1	NP_001035982.1:p.(Arg1076Cys)	NC_000013.10:g.60348895G>A	(Likely) benign	1 lab	d7872abe7e
6:31839295 SLC44A4 C>T	6	31839295	31839295	C	T	SLC44A4	c.345G>A	NM_001178045.1	NP_001171516.1:p.(Ala115=)	NC_000006.11:g.31839295C>T	(Likely) benign	1 lab	d78b95c3db
2:179435337 TTN T>G	2	179435337	179435337	T	G	TTN	c.75522A>C	NM_001267550.1	NP_001254479.1:p.(Ala25174=)	NC_000002.11:g.179435337T>G	(Likely) benign	1 lab	d78ba8b8dc
2:217285093 SMARCAL1 C>G	2	217285093	217285093	C	G	SMARCAL1	c.934C>G	NM_014140.3	NP_054859.2:p.(Pro312Ala)	NC_000002.11:g.217285093C>G	(Likely) benign	1 lab	d78c1f9de1
17:76136994 TMC8 C>T	17	76136994	76136994	C	T	TMC8	c.1982C>T	NM_152468.4	NP_689681.2:p.(Pro661Leu)	NC_000017.10:g.76136994C>T	(Likely) benign	1 lab	d78cea4c74
6:31934882 SKIC2 G>C	6	31934882	31934882	G	C	SKIC2	c.2442G>C	NM_006929.4	NP_008860.4:p.(Trp814Cys)	NC_000006.11:g.31934882G>C	VUS	1 lab	d78e045ebe
11:95555690 CEP57 C>T	11	95555690	95555690	C	T	CEP57	c.754C>T	NM_001363604.1	NP_001350533.1:p.(Gln252Ter)	NC_000011.9:g.95555690C>T	(Likely) pathogenic	1 lab	d78e09cb81
1:182993071 LAMC1 G>A	1	182993071	182993071	G	A	LAMC1	c.220G>A	NM_002293.3	NP_002284.3:p.(Glu74Lys)	NC_000001.10:g.182993071G>A	VUS	1 lab	d78ec42b59
2:219925002 IHH G>C	2	219925002	219925002	G	C	IHH	c.188C>G	NM_002181.3	NP_002172.2:p.(Ala63Gly)	NC_000002.11:g.219925002G>C	VUS	1 lab	d78fe18c55
1:39903577 MACF1 C>T	1	39903577	39903577	C	T	MACF1	c.11940C>T	NM_012090.5	NP_036222.3:p.(Thr3980=)	NC_000001.10:g.39903577C>T	(Likely) benign	1 lab	d7913fd336
17:27186128 ERAL1 G>A	17	27186128	27186128	G	A	ERAL1	c.1104G>A	NM_001317985.1	NP_001304914.1:p.(Gln368=)	NC_000017.10:g.27186128G>A	(Likely) benign	1 lab	d79373d839
12:21727209 GYS2 G>A	12	21727209	21727209	G	A	GYS2	c.547C>T	NM_021957.4	NP_068776.2:p.(Gln183Ter)	NC_000012.11:g.21727209G>A	(Likely) pathogenic	1 lab	d794049b13
X:50052558 CCNB3 G>A	X	50052558	50052558	G	A	CCNB3	c.1389G>A	NM_033031.2	NP_149020.2:p.(Glu463=)	NC_000023.10:g.50052558G>A	(Likely) benign	1 lab	d795b5e4cf
5:75490906 SV2C G>A	5	75490906	75490906	G	A	SV2C	c.743G>A	NM_014979.4	NP_055794.3:p.(Arg248His)	NC_000005.9:g.75490906G>A	VUS	1 lab	d79710e6e7
2:86067277 ST3GAL5 C>A	2	86067277	86067277	C	A	ST3GAL5	c.524G>T	NM_001354247.1	NP_001341176.1:p.(Arg175Leu)	NC_000002.11:g.86067277C>A	(Likely) benign	1 lab	d797ef7372
22:23915549 IGLL1 C>G	22	23915549	23915549	C	G	IGLL1				NC_000022.10:g.23915549C>G	(Likely) benign	1 lab	d797f3d322
3:111962853 SLC9C1 A>G	3	111962853	111962853	A	G	SLC9C1	c.1268T>C	NM_183061.3	NP_898884.1:p.(Val423Ala)	NC_000003.11:g.111962853A>G	VUS	1 lab	d7990c7f4c
8:145738522 RECQL4 C>G	8	145738522	145738522	C	G	RECQL4	c.2464-1G>C	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738522C>G	(Likely) pathogenic	1 lab	d799803758
1:152281606 FLG C>G	1	152281606	152281606	C	G	FLG	c.5756G>C	NM_002016.1	NP_002007.1:p.(Ser1919Thr)	NC_000001.10:g.152281606C>G	VUS	1 lab	d79b1aeb6c
1:209804005 LAMB3 G>A	1	209804005	209804005	G	A	LAMB3	c.898C>T	NM_001017402.1	NP_001017402.1:p.(Arg300Trp)	NC_000001.10:g.209804005G>A	VUS	1 lab	d79b611c40
8:145110795 OPLAH CCT>C	8	145110795	145110797	CCT	C	OPLAH	c.2142_2143del	NM_017570.5	NP_060040.1:p.(Asp716HisfsTer34)	NC_000008.10:g.145110796_145110797del	(Likely) pathogenic	1 lab	d79ca882e7
17:29592345 NF1 A>C	17	29592345	29592345	A	C	NF1	c.4760A>C	NM_000267.3	NP_000258.1:p.(Tyr1587Ser)	NC_000017.10:g.29592345A>C	VUS	1 lab	d79ce1aa3d
1:156843449 NTRK1 C>T	1	156843449	156843449	C	T	NTRK1	c.875C>T	NM_002529.3	NP_002520.2:p.(Thr292Met)	NC_000001.10:g.156843449C>T	(Likely) benign	1 lab	d79d34baec
1:231402163 GNPAT G>A	1	231402163	231402163	G	A	GNPAT	c.1055+10G>A	NM_014236.3	NP_055051.1:p.?	NC_000001.10:g.231402163G>A	(Likely) benign	1 lab	d79d974527
3:189838208 P3H2 C>T	3	189838208	189838208	C	T	P3H2	c.313G>A	NM_018192.4	NP_060662.2:p.(Ala105Thr)	NC_000003.11:g.189838208C>T	(Likely) benign	1 lab	d7a1353866
2:233656136 GIGYF2 A>G	2	233656136	233656136	A	G	GIGYF2	c.1262A>G	NM_015575.3	NP_056390.2:p.(Lys421Arg)	NC_000002.11:g.233656136A>G	(Likely) benign	1 lab	d7a2402efd
9:88248145 AGTPBP1 A>C	9	88248145	88248145	A	C	AGTPBP1	c.1447T>G	NM_001330701.1	NP_001317630.1:p.(Ser483Ala)	NC_000009.11:g.88248145A>C	(Likely) benign	1 lab	d7a409e0a9
15:45392396 DUOX2 T>C	15	45392396	45392396	T	C	DUOX2	c.3036A>G	NM_014080.4	NP_054799.4:p.(Thr1012=)	NC_000015.9:g.45392396T>C	(Likely) benign	1 lab	d7a5aeb7ff
11:69934027 ANO1 G>T	11	69934027	69934027	G	T	ANO1	c.278G>T	NM_018043.5	NP_060513.5:p.(Arg93Leu)	NC_000011.9:g.69934027G>T	VUS	1 lab	d7a663db7c
19:7680603 CAMSAP3 TG>T	19	7680603	7680606	TG	T	CAMSAP3	c.3112+1del	NM_020902.2	NP_065953.1:p.?	NC_000019.9:g.7680606del	VUS	1 lab	d7aae2474c
X:50053892 CCNB3 C>A	X	50053892	50053892	C	A	CCNB3	c.2723C>A	NM_033031.2	NP_149020.2:p.(Thr908Asn)	NC_000023.10:g.50053892C>A	VUS	1 lab	d7abb31236
9:135771689 TSC1 G>A	9	135771689	135771689	G	A	TSC1	c.3428C>T	NM_000368.4	NP_000359.1:p.(Pro1143Leu)	NC_000009.11:g.135771689G>A	VUS	1 lab	d7ac93167b
2:219892344 CFAP65 A>G	2	219892344	219892344	A	G	CFAP65	c.2206T>C	NM_001278295.1	NP_001265224.1:p.(Cys736Arg)	NC_000002.11:g.219892344A>G	VUS	1 lab	d7accc31a3
11:6789978 OR2AG2 G>A	11	6789978	6789978	G	A	OR2AG2	c.211C>T	NM_001004490.1	NP_001004490.1:p.(Leu71Phe)	NC_000011.9:g.6789978G>A	(Likely) benign	1 lab	d7adcad622
X:64738103 LAS1L A>G	X	64738103	64738103	A	G	LAS1L	c.1691T>C	NM_031206.4	NP_112483.1:p.(Val564Ala)	NC_000023.10:g.64738103A>G	(Likely) benign	1 lab	d7af4338bd
X:13681410 TCEANC G>A	X	13681410	13681410	G	A	TCEANC	c.873G>A	NM_152634.3	NP_689847.2:p.(Met291Ile)	NC_000023.10:g.13681410G>A	VUS	1 lab	d7b1097f4f
11:44253946 EXT2 G>A	11	44253946	44253946	G	A	EXT2	c.1736G>A	NM_001178083.1	NP_001171554.1:p.(Arg579His)	NC_000011.9:g.44253946G>A	VUS	1 lab	d7b1c8708a
X:135077037 SLC9A6 A>G	X	135077037	135077037	A	G	SLC9A6	c.418A>G	NM_001042537.1	NP_001036002.1:p.(Thr140Ala)	NC_000023.10:g.135077037A>G	(Likely) benign	1 lab	d7b2b168d7
X:49034491 PRICKLE3 C>T	X	49034491	49034491	C	T	PRICKLE3	c.806G>A	NM_006150.4	NP_006141.2:p.(Arg269His)	NC_000023.10:g.49034491C>T	(Likely) benign	1 lab	d7b2eac418
15:82574519 SAXO2 C>T	15	82574519	82574519	C	T	SAXO2	c.313C>T	NM_001008226.1	NP_001008227.1:p.(His105Tyr)	NC_000015.9:g.82574519C>T	(Likely) benign	1 lab	d7b5d6a535
1:205038648 CNTN2 G>A	1	205038648	205038648	G	A	CNTN2	c.2155G>A	NM_005076.4	NP_005067.1:p.(Gly719Arg)	NC_000001.10:g.205038648G>A	VUS	1 lab	d7b6d2f169
17:4802093 CHRNE A>C	17	4802093	4802093	A	C	CHRNE	c.1420T>G	NM_000080.4	NP_000071.1:p.(Phe474Val)	NC_000017.10:g.4802093A>C	VUS	1 lab	d7b732e928
12:53069000 KRT1 T>C	12	53069000	53069000	T	C	KRT1	c.1912A>G	NM_006121.3	NP_006112.3:p.(Thr638Ala)	NC_000012.11:g.53069000T>C	(Likely) benign	1 lab	d7b7671f7c
17:29586086 NF1 A>G	17	29586086	29586086	A	G	NF1	c.4306A>G	NM_000267.3	NP_000258.1:p.(Lys1436Glu)	NC_000017.10:g.29586086A>G	(Likely) pathogenic	1 lab	d7b91f255b
X:117773484 DOCK11 T>C	X	117773484	117773484	T	C	DOCK11	c.4088T>C	NM_144658.3	NP_653259.3:p.(Met1363Thr)	NC_000023.10:g.117773484T>C	VUS	1 lab	d7ba471954
19:36367472 APLP1 G>T	19	36367472	36367472	G	T	APLP1	c.1398G>T	NM_001024807.2	NP_001019978.1:p.(Leu466=)	NC_000019.9:g.36367472G>T	(Likely) benign	1 lab	d7bb0c7dca
2:44502822 SLC3A1 G>A	2	44502822	44502822	G	A	SLC3A1	c.148G>A	NM_000341.3	NP_000332.2:p.(Gly50Ser)	NC_000002.11:g.44502822G>A	(Likely) benign	1 lab	d7bb2181f9
22:38373961 SOX10 G>A	22	38373961	38373961	G	A	SOX10	c.610C>T	NM_006941.3	NP_008872.1:p.(Gln204Ter)	NC_000022.10:g.38373961G>A	(Likely) pathogenic	1 lab	d7bb5870a2
X:110971516 ALG13 A>T	X	110971516	110971516	A	T	ALG13	c.2117A>T	NM_001257231.1	NP_001244160.1:p.(Asn706Ile)	NC_000023.10:g.110971516A>T	VUS	1 lab	d7bbd6851c
10:43597991 RET G>A	10	43597991	43597991	G	A	RET	c.539G>A	NM_020975.4	NP_066124.1:p.(Arg180Gln)	NC_000010.10:g.43597991G>A	VUS	1 lab	d7bc1ce0ee
5:127638728 FBN2 C>T	5	127638728	127638728	C	T	FBN2	c.5854G>A	NM_001999.3	NP_001990.2:p.(Val1952Ile)	NC_000005.9:g.127638728C>T	VUS	1 lab	d7bc234e11
20:49508308 ADNP C>A	20	49508308	49508308	C	A	ADNP	c.2943G>T	NM_001282531.2	NP_001269460.1:p.(Val981=)	NC_000020.10:g.49508308C>A	(Likely) benign	1 lab	d7bc7f8d85
6:44198330 SLC29A1 C>T	6	44198330	44198330	C	T	SLC29A1	c.615C>T	NM_001078177.1	NP_001071645.1:p.(Ala205=)	NC_000006.11:g.44198330C>T	(Likely) benign	1 lab	d7bd62b3d9
20:23472318 CST8 G>A	20	23472318	23472318	G	A	CST8	c.14G>A	NM_005492.3	NP_005483.1:p.(Arg5Gln)	NC_000020.10:g.23472318G>A	(Likely) benign	1 lab	d7be002e8f
8:38003670 STAR C>T	8	38003670	38003670	C	T	STAR	c.466-5G>A	NM_000349.2	NP_000340.2:p.?	NC_000008.10:g.38003670C>T	VUS	1 lab	d7be052da7
3:49869382 TRAIP C>A	3	49869382	49869382	C	A	TRAIP	c.1004G>T	NM_005879.2	NP_005870.2:p.(Gly335Val)	NC_000003.11:g.49869382C>A	(Likely) benign	1 lab	d7be0a2200
9:111899862 FRRS1L C>T	9	111899862	111899862	C	T	FRRS1L	c.908G>A	NM_014334.3	NP_055149.2:p.(Arg303His)	NC_000009.11:g.111899862C>T	(Likely) benign	1 lab	d7bed33a0b
5:90084006 ADGRV1 C>T	5	90084006	90084006	C	T	ADGRV1	c.13772C>T	NM_032119.4	NP_115495.3:p.(Thr4591Ile)	NC_000005.9:g.90084006C>T	(Likely) benign	1 lab	d7bfc103f5
3:15686724 BTD A>G	3	15686724	15686724	A	G	BTD	c.1361A>G	NM_000060.4	NP_000051.1:p.(Tyr454Cys)	NC_000003.11:g.15686724A>G	(Likely) pathogenic	1 lab	d7c04f3665
16:2136267 TSC2 G>T	16	2136267	2136267	G	T	TSC2	c.4736G>T	NM_000548.3	NP_000539.2:p.(Gly1579Val)	NC_000016.9:g.2136267G>T	(Likely) pathogenic	1 lab	d7c0a02ac1
15:62276087 VPS13C G>T	15	62276087	62276087	G	T	VPS13C	c.1846C>A	NM_001018088.2	NP_001018098.1:p.(Pro616Thr)	NC_000015.9:g.62276087G>T	VUS	1 lab	d7c175a7c8
2:170083023 LRP2 T>C	2	170083023	170083023	T	C	LRP2	c.5303A>G	NM_004525.3	NP_004516.2:p.(Asn1768Ser)	NC_000002.11:g.170083023T>C	VUS	1 lab	d7c39e534c
19:8670572 ADAMTS10 G>A	19	8670572	8670572	G	A	ADAMTS10	c.24C>T	NM_030957.3	NP_112219.3:p.(Leu8=)	NC_000019.9:g.8670572G>A	(Likely) benign	1 lab	d7c4027486
3:48682579 CELSR3 A>G	3	48682579	48682579	A	G	CELSR3	c.7861T>C	NM_001407.2	NP_001398.2:p.(Phe2621Leu)	NC_000003.11:g.48682579A>G	(Likely) benign	1 lab	d7c566c5d2
7:42007305 GLI3 A>G	7	42007305	42007305	A	G	GLI3	c.2320T>C	NM_000168.5	NP_000159.3:p.(Trp774Arg)	NC_000007.13:g.42007305A>G	VUS	1 lab	d7c6e2ad44
2:189863055 COL3A1 G>A	2	189863055	189863055	G	A	COL3A1	c.1977+10G>A	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189863055G>A	(Likely) benign	1 lab	d7c9419b57
1:198698300 PTPRC GGTAA>G	1	198698300	198698307	GGTAA	G	PTPRC	c.1864+4_1864+7del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198698304_198698307del	(Likely) benign	1 lab	d7c9b3aa88
2:27670477 IFT172 C>T	2	27670477	27670477	C	T	IFT172	c.4564G>A	NM_015662.2	NP_056477.1:p.(Glu1522Lys)	NC_000002.11:g.27670477C>T	VUS	1 lab	d7ca1d3639
5:1216780 SLC6A19 G>A	5	1216780	1216780	G	A	SLC6A19	c.995G>A	NM_001003841.2	NP_001003841.1:p.(Arg332His)	NC_000005.9:g.1216780G>A	VUS	1 lab	d7cd4db236
14:76949060 ESRRB C>A	14	76949060	76949060	C	A	ESRRB	c.745C>A	NM_004452.3	NP_004443.3:p.(Arg249=)	NC_000014.8:g.76949060C>A	(Likely) benign	1 lab	d7d074a3f4
16:30735245 SRCAP G>A	16	30735245	30735245	G	A	SRCAP	c.4500G>A	NM_006662.2	NP_006653.2:p.(Pro1500=)	NC_000016.9:g.30735245G>A	(Likely) benign	1 lab	d7d1cf6b8c
4:39506885 UGDH A>G	4	39506885	39506885	A	G	UGDH	c.1143T>C	NM_003359.4	NP_003350.1:p.(Ser381=)	NC_000004.11:g.39506885A>G	(Likely) benign	1 lab	d7d41f7cc9
12:14019170 GRIN2B C>G	12	14019170	14019170	C	G	GRIN2B	c.-18-10G>C	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.14019170C>G	(Likely) benign	1 lab	d7d4dad7a1
19:38682861 SIPA1L3 C>T	19	38682861	38682861	C	T	SIPA1L3	c.4507C>T	NM_015073.2	NP_055888.1:p.(Arg1503Trp)	NC_000019.9:g.38682861C>T	VUS	1 lab	d7d56090a5
1:7725261 CAMTA1 T>A	1	7725261	7725261	T	A	CAMTA1	c.2652+2T>A	NM_015215.3	NP_056030.1:p.?	NC_000001.10:g.7725261T>A	(Likely) pathogenic	1 lab	d7d61beacc
X:45013272 DIPK2B C>T	X	45013272	45013272	C	T	DIPK2B	c.844G>A	NM_176819.4	NP_789789.2:p.(Asp282Asn)	NC_000023.10:g.45013272C>T	VUS	1 lab	d7d7333c82
8:27373232 EPHX2 C>T	8	27373232	27373232	C	T	EPHX2	c.736-3C>T	NM_001979.5	NP_001970.2:p.?	NC_000008.10:g.27373232C>T	(Likely) benign	1 lab	d7d8d4bfe7
15:28437229 HERC2 T>C	15	28437229	28437229	T	C	HERC2	c.8329A>G	NM_004667.5	NP_004658.3:p.(Met2777Val)	NC_000015.9:g.28437229T>C	(Likely) benign	1 lab	d7d91b219a
15:23811131 MKRN3 C>T	15	23811131	23811131	C	T	MKRN3	c.202C>T	NM_005664.3	NP_005655.1:p.(Arg68Cys)	NC_000015.9:g.23811131C>T	(Likely) benign	1 lab	d7d95e8c78
20:62319676 RTEL1 C>A	20	62319676	62319676	C	A	RTEL1	c.1659C>A	NM_001283009.1	NP_001269938.1:p.(Pro553=)	NC_000020.10:g.62319676C>A	(Likely) benign	1 lab	d7da3964b2
14:24633131 IRF9 G>GAGC	14	24633131	24633152	G	GAGC	IRF9	c.559_561dup	NM_006084.4	NP_006075.3:p.(Ser187dup)	NC_000014.8:g.24633150_24633152dup	VUS	1 lab	d7da9b2fde
9:117241003 WHRN G>A	9	117241003	117241003	G	A	WHRN	c.667C>T	NM_015404.3	NP_056219.3:p.(Arg223Cys)	NC_000009.11:g.117241003G>A	(Likely) benign	1 lab	d7dbb096f2
17:8738639 PIK3R6 G>A	17	8738639	8738639	G	A	PIK3R6	c.596C>T	NM_001010855.3	NP_001010855.1:p.(Ala199Val)	NC_000017.10:g.8738639G>A	VUS	1 lab	d7dc81ac9b
2:240960670 NDUFA10 A>G	2	240960670	240960670	A	G	NDUFA10	c.404T>C	NM_004544.3	NP_004535.1:p.(Leu135Ser)	NC_000002.11:g.240960670A>G	VUS	1 lab	d7dee0e789
16:71061591 HYDIN C>T	16	71061591	71061591	C	T	HYDIN	c.2956G>A	NM_001270974.2	NP_001257903.1:p.(Val986Met)	NC_000016.9:g.71061591C>T	VUS	1 lab	d7e1f9e6b8
1:110582020 STRIP1 C>T	1	110582020	110582020	C	T	STRIP1	c.464C>T	NM_033088.4	NP_149079.2:p.(Thr155Met)	NC_000001.10:g.110582020C>T	VUS	1 lab	d7e28718c4
17:29687534 NF1 T>A	17	29687534	29687534	T	A	NF1	c.8127T>A	NM_000267.3	NP_000258.1:p.(Leu2709=)	NC_000017.10:g.29687534T>A	(Likely) benign	1 lab	d7e2e72f19
12:40709108 LRRK2 T>A	12	40709108	40709108	T	A	LRRK2	c.4827+6T>A	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40709108T>A	VUS	1 lab	d7e324ba15
13:39422762 FREM2 G>A	13	39422762	39422762	G	A	FREM2	c.6334G>A	NM_207361.5	NP_997244.4:p.(Glu2112Lys)	NC_000013.10:g.39422762G>A	VUS	1 lab	d7e3eb764c
10:71146089 HK1 T>C	10	71146089	71146089	T	C	HK1	c.1955T>C	NM_001322365.1	NP_001309294.1:p.(Ile652Thr)	NC_000010.10:g.71146089T>C	VUS	1 lab	d7e4c5553e
1:40769765 COL9A2 G>C	1	40769765	40769765	G	C	COL9A2	c.1294C>G	NM_001852.4	NP_001843.1:p.(Pro432Ala)	NC_000001.10:g.40769765G>C	VUS	1 lab	d7e5d30af0
11:66468666 SPTBN2 C>T	11	66468666	66468666	C	T	SPTBN2	c.2904G>A	NM_006946.3	NP_008877.1:p.(Thr968=)	NC_000011.9:g.66468666C>T	(Likely) benign	1 lab	d7e6b4e408
12:56398497 SUOX G>A	12	56398497	56398497	G	A	SUOX	c.1324G>A	NM_000456.2	NP_000447.2:p.(Glu442Lys)	NC_000012.11:g.56398497G>A	(Likely) benign	1 lab	d7e7a49bf4
10:95111024 MYOF G>T	10	95111024	95111024	G	T	MYOF	c.3851C>A	NM_013451.4	NP_038479.1:p.(Pro1284His)	NC_000010.10:g.95111024G>T	VUS	1 lab	d7e816a2ab
1:161140209 PPOX A>T	1	161140209	161140209	A	T	PPOX	c.998A>T	NM_000309.4	NP_000300.1:p.(His333Leu)	NC_000001.10:g.161140209A>T	(Likely) pathogenic	1 lab	d7e8f6757f
11:1016227 MUC6 C>T	11	1016227	1016227	C	T	MUC6	c.6574G>A	NM_005961.2	NP_005952.2:p.(Val2192Met)	NC_000011.9:g.1016227C>T	(Likely) benign	1 lab	d7e8f833bb
22:51159169 MISSING G>T	22	51159169	51159169	G	T	MISSING				NC_000022.10:g.51159169G>T	(Likely) benign	1 lab	d7ec004004
4:15004748 CPEB2 T>G	4	15004748	15004748	T	G	CPEB2	c.451T>G	NM_001177382.1	NP_001170853.1:p.(Ser151Ala)	NC_000004.11:g.15004748T>G	(Likely) benign	1 lab	d7efb32cb4
14:102506942 DYNC1H1 G>T	14	102506942	102506942	G	T	DYNC1H1	c.11873G>T	NM_001376.4	NP_001367.2:p.(Gly3958Val)	NC_000014.8:g.102506942G>T	(Likely) benign	1 lab	d7efce2f75
9:6645310 GLDC C>A	9	6645310	6645310	C	A	GLDC	c.190G>T	NM_000170.2	NP_000161.2:p.(Ala64Ser)	NC_000009.11:g.6645310C>A	(Likely) benign	1 lab	d7f1f89e29
16:50815155 CYLD A>T	16	50815155	50815155	A	T	CYLD	c.1519-2A>T	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50815155A>T	(Likely) pathogenic	1 lab	d7f3cbfd40
18:44140109 LOXHD1 G>A	18	44140109	44140109	G	A	LOXHD1	c.2998C>T	NM_144612.6	NP_653213.6:p.(Arg1000Trp)	NC_000018.9:g.44140109G>A	VUS	1 lab	d7f3f0b445
6:152777095 SYNE1 A>T	6	152777095	152777095	A	T	SYNE1	c.2653T>A	NM_182961.3	NP_892006.3:p.(Leu885Met)	NC_000006.11:g.152777095A>T	VUS	1 lab	d7f4cf0ce5
14:50760929 L2HGDH T>G	14	50760929	50760929	T	G	L2HGDH	c.444A>C	NM_024884.2	NP_079160.1:p.(Arg148Ser)	NC_000014.8:g.50760929T>G	VUS	1 lab	d7f7ef065a
22:33700483 LARGE1 G>A	22	33700483	33700483	G	A	LARGE1	c.1462C>T	NM_133642.4	NP_598397.1:p.(Leu488=)	NC_000022.10:g.33700483G>A	(Likely) benign	1 lab	d7f92b3117
6:65300359 EYS C>T	6	65300359	65300359	C	T	EYS	c.5401G>A	NM_001292009.1	NP_001278938.1:p.(Ala1801Thr)	NC_000006.11:g.65300359C>T	(Likely) benign	1 lab	d7fab85c99
5:78340149 DMGDH C>T	5	78340149	78340149	C	T	DMGDH	c.972G>A	NM_013391.3	NP_037523.2:p.(Trp324Ter)	NC_000005.9:g.78340149C>T	VUS	1 lab	d7fd02c31d
8:144886779 SCRIB TGGGGGCCAGGCTCGGCAACCCAGGCACCCC>T	8	144886779	144886814	TGGGGGCCAGGCTCGGCAACCCAGGCACCCC	T	SCRIB	c.2938_2967del	NM_182706.5	NP_874365.3:p.(Gly980_Pro989del)	NC_000008.10:g.144886785_144886814del	VUS	1 lab	d7fe10b700
10:102750689 TWNK T>C	10	102750689	102750689	T	C	TWNK	c.1656T>C	NM_001163812.1	NP_001157284.1:p.(His552=)	NC_000010.10:g.102750689T>C	(Likely) benign	1 lab	d7fe11b0da
11:17663736 OTOG C>T	11	17663736	17663736	C	T	OTOG	c.8394C>T	NM_001277269.1	NP_001264198.1:p.(Ala2798=)	NC_000011.9:g.17663736C>T	(Likely) benign	1 lab	d7fe3b6bec
7:92123938 PEX1 T>C	7	92123938	92123938	T	C	PEX1	c.2165A>G	NM_001282678.1	NP_001269607.1:p.(Gln722Arg)	NC_000007.13:g.92123938T>C	VUS	1 lab	d7fe6b6d36
X:137715061 MISSING A>G	X	137715061	137715061	A	G	MISSING				NC_000023.10:g.137715061A>G	(Likely) benign	1 lab	d7ffd90965
11:121000704 TECTA C>T	11	121000704	121000704	C	T	TECTA	c.2725C>T	NM_005422.2	NP_005413.2:p.(Arg909Cys)	NC_000011.9:g.121000704C>T	VUS	1 lab	d800144be8
6:33145432 COL11A2 C>T	6	33145432	33145432	C	T	COL11A2	c.1917+7G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33145432C>T	(Likely) benign	1 lab	d800817104
7:128480069 FLNC T>G	7	128480069	128480069	T	G	FLNC	c.1412-8T>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128480069T>G	(Likely) benign	1 lab	d801572cd0
7:100462918 SLC12A9 C>T	7	100462918	100462918	C	T	SLC12A9	c.1868C>T	NM_001267812.1	NP_001254741.1:p.(Thr623Met)	NC_000007.13:g.100462918C>T	(Likely) benign	1 lab	d8020e6fe1
16:57998092 CNGB1 C>T	16	57998092	57998092	C	T	CNGB1	c.232G>A	NM_001297.4	NP_001288.3:p.(Ala78Thr)	NC_000016.9:g.57998092C>T	VUS	1 lab	d802aafe38
3:69813068 MITF T>C	3	69813068	69813068	T	C	MITF	c.76T>C	NM_006722.2	NP_006713.1:p.(Leu26=)	NC_000003.11:g.69813068T>C	(Likely) benign	1 lab	d8030b0fb8
4:79399113 FRAS1 A>G	4	79399113	79399113	A	G	FRAS1	c.7996A>G	NM_025074.7	NP_079350.5:p.(Ile2666Val)	NC_000004.11:g.79399113A>G	(Likely) benign	1 lab	d803135b22
3:53219679 PRKCD C>T	3	53219679	53219679	C	T	PRKCD	c.948C>T	NM_006254.4	NP_006245.2:p.(Phe316=)	NC_000003.11:g.53219679C>T	(Likely) benign	1 lab	d80329137c
X:50659045 BMP15 G>A	X	50659045	50659045	G	A	BMP15	c.617G>A	NM_005448.2	NP_005439.2:p.(Arg206His)	NC_000023.10:g.50659045G>A	(Likely) benign	1 lab	d803ebba70
9:139839917 C8G G>GT	9	139839917	139839919	G	GT	C8G	c.138+9dup	NM_000606.3	NP_000597.2:p.?	NC_000009.11:g.139839919dup	(Likely) benign	1 lab	d80532b042
12:40745469 LRRK2 C>A	12	40745469	40745469	C	A	LRRK2	c.6510C>A	NM_198578.3	NP_940980.3:p.(Gly2170=)	NC_000012.11:g.40745469C>A	(Likely) benign	1 lab	d80532e45f
16:23999909 PRKCB G>T	16	23999909	23999909	G	T	PRKCB	c.286G>T	NM_002738.6	NP_002729.2:p.(Asp96Tyr)	NC_000016.9:g.23999909G>T	VUS	1 lab	d8055350bc
12:88483048 CEP290 G>A	12	88483048	88483048	G	A	CEP290	c.3790C>T	NM_025114.3	NP_079390.3:p.(Arg1264Cys)	NC_000012.11:g.88483048G>A	VUS	1 lab	d805e55d71
5:70785311 BDP1 C>A	5	70785311	70785311	C	A	BDP1	c.1294C>A	NM_018429.2	NP_060899.2:p.(Gln432Lys)	NC_000005.9:g.70785311C>A	(Likely) benign	1 lab	d8067adb1e
X:135761804 ARHGEF6 C>T	X	135761804	135761804	C	T	ARHGEF6	c.1720G>A	NM_004840.2	NP_004831.1:p.(Gly574Arg)	NC_000023.10:g.135761804C>T	VUS	1 lab	d8075d25f1
11:65787627 CATSPER1 C>T	11	65787627	65787627	C	T	CATSPER1	c.2109G>A	NM_053054.3	NP_444282.3:p.(Thr703=)	NC_000011.9:g.65787627C>T	(Likely) benign	1 lab	d8076ffce0
X:12632958 FRMPD4 C>T	X	12632958	12632958	C	T	FRMPD4	c.380C>T	NM_014728.3	NP_055543.2:p.(Pro127Leu)	NC_000023.10:g.12632958C>T	(Likely) benign	1 lab	d807dda720
6:1612141 FOXC1 C>CGCGGCG	6	1612141	1612161	C	CGCGGCG	FOXC1	c.1476_1481dup	NM_001453.3	NP_001444.2:p.(Ala494_Ala495dup)	NC_000006.11:g.1612156_1612161dup	(Likely) benign	1 lab	d8088136f3
4:15512919 CC2D2A T>C	4	15512919	15512919	T	C	CC2D2A	c.590T>C	NM_001080522.2	NP_001073991.2:p.(Phe197Ser)	NC_000004.11:g.15512919T>C	VUS	1 lab	d8090981d9
12:80839308 MISSING C>T	12	80839308	80839308	C	T	MISSING				NC_000012.11:g.80839308C>T	(Likely) benign	1 lab	d8099b9f9e
14:39530997 SEC23A G>A	14	39530997	39530997	G	A	SEC23A	c.1477C>T	NM_006364.3	NP_006355.2:p.(Arg493Cys)	NC_000014.8:g.39530997G>A	VUS	1 lab	d80b739118
13:32911384 BRCA2 A>T	13	32911384	32911384	A	T	BRCA2	c.2892A>T	NM_000059.3	NP_000050.2:p.(Lys964Asn)	NC_000013.10:g.32911384A>T	(Likely) benign	1 lab	d80e417a40
5:176675331 NSD1 G>A	5	176675331	176675331	G	A	NSD1	c.4641+6G>A	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176675331G>A	(Likely) benign	1 lab	d80f749840
1:11852300 MTHFR C>T	1	11852300	11852300	C	T	MTHFR	c.1755+35G>A	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11852300C>T	(Likely) benign	1 lab	d8119003b9
22:19164209 SLC25A1 G>A	22	19164209	19164209	G	A	SLC25A1	c.632-3C>T	NM_005984.4	NP_005975.1:p.?	NC_000022.10:g.19164209G>A	(Likely) benign	1 lab	d811c411e2
9:130151270 GARNL3 T>A	9	130151270	130151270	T	A	GARNL3	c.2615T>A	NM_032293.5	NP_115669.3:p.(Val872Asp)	NC_000009.11:g.130151270T>A	VUS	1 lab	d812555726
18:67687842 RTTN A>C	18	67687842	67687842	A	C	RTTN	c.6153+9T>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67687842A>C	VUS	1 lab	d81339e306
1:94543323 ABCA4 C>T	1	94543323	94543323	C	T	ABCA4	c.1477G>A	NM_000350.2	NP_000341.2:p.(Asp493Asn)	NC_000001.10:g.94543323C>T	VUS	1 lab	d81497f011
13:48807588 ITM2B C>T	13	48807588	48807588	C	T	ITM2B	c.92C>T	NM_021999.5	NP_068839.1:p.(Pro31Leu)	NC_000013.10:g.48807588C>T	VUS	1 lab	d814ccc07a
X:77264679 ATP7A C>T	X	77264679	77264679	C	T	ATP7A	c.1788C>T	NM_000052.6	NP_000043.4:p.(Ser596=)	NC_000023.10:g.77264679C>T	(Likely) benign	1 lab	d815f9bbdc
X:19373832 PDHA1 G>C	X	19373832	19373832	G	C	PDHA1	c.902G>C	NM_001173454.1	NP_001166925.1:p.(Arg301Pro)	NC_000023.10:g.19373832G>C	VUS	1 lab	d818c1d72d
7:72891799 BAZ1B T>C	7	72891799	72891799	T	C	BAZ1B	c.1992A>G	NM_032408.3	NP_115784.1:p.(Gln664=)	NC_000007.13:g.72891799T>C	(Likely) benign	1 lab	d819e4b557
8:10464581 RP1L1 T>C	8	10464581	10464581	T	C	RP1L1	c.7027A>G	NM_178857.5	NP_849188.4:p.(Met2343Val)	NC_000008.10:g.10464581T>C	(Likely) benign	1 lab	d81ae35755
18:43445581 EPG5 G>A	18	43445581	43445581	G	A	EPG5	c.6765C>T	NM_020964.3	NP_066015.2:p.(Pro2255=)	NC_000018.9:g.43445581G>A	(Likely) benign	1 lab	d81b7d5004
19:18191778 IL12RB1 G>A	19	18191778	18191778	G	A	IL12RB1	c.393C>T	NM_001290024.1	NP_001276953.1:p.(Ala131=)	NC_000019.9:g.18191778G>A	(Likely) benign	1 lab	d81be4a393
7:4829540 AP5Z1 G>T	7	4829540	4829540	G	T	AP5Z1	c.1785G>T	NM_014855.3	NP_055670.1:p.(Gly595=)	NC_000007.13:g.4829540G>T	(Likely) benign	1 lab	d81c594a73
X:37431404 LANCL3 G>A	X	37431404	37431404	G	A	LANCL3	c.281G>A	NM_198511.2	NP_940913.1:p.(Arg94His)	NC_000023.10:g.37431404G>A	VUS	1 lab	d81cc16833
19:507573 TPGS1 C>T	19	507573	507573	C	T	TPGS1	c.67C>T	NM_033513.3	NP_277048.2:p.(Gln23Ter)	NC_000019.9:g.507573C>T	VUS	1 lab	d81cf94dfb
3:167413401 PDCD10 C>CT	3	167413401	167413402	C	CT	PDCD10	c.377_378insA	NM_007217.3	NP_009148.2:p.(Phe127ValfsTer10)	NC_000003.11:g.167413401_167413402insT	(Likely) pathogenic	1 lab	d81d222fe3
17:1636875 WDR81 C>T	17	1636875	1636875	C	T	WDR81	c.4544C>T	NM_001163809.1	NP_001157281.1:p.(Ala1515Val)	NC_000017.10:g.1636875C>T	(Likely) benign	1 lab	d81e514a43
8:10467080 RP1L1 C>T	8	10467080	10467080	C	T	RP1L1	c.4528G>A	NM_178857.5	NP_849188.4:p.(Ala1510Thr)	NC_000008.10:g.10467080C>T	(Likely) benign	1 lab	d81fa9069e
7:157000243 UBE3C A>C	7	157000243	157000243	A	C	UBE3C	c.1570A>C	NM_014671.3	NP_055486.2:p.(Ile524Leu)	NC_000007.13:g.157000243A>C	(Likely) benign	1 lab	d82027794b
5:149360087 SLC26A2 T>C	5	149360087	149360087	T	C	SLC26A2	c.931T>C	NM_000112.3	NP_000103.2:p.(Cys311Arg)	NC_000005.9:g.149360087T>C	VUS	1 lab	d82471d5a4
X:24861749 POLA1 C>T	X	24861749	24861749	C	T	POLA1	c.3984C>T	NM_016937.3	NP_058633.2:p.(Asn1328=)	NC_000023.10:g.24861749C>T	(Likely) benign	1 lab	d82638cf89
5:82833040 VCAN A>G	5	82833040	82833040	A	G	VCAN	c.4218A>G	NM_004385.4	NP_004376.2:p.(Pro1406=)	NC_000005.9:g.82833040A>G	(Likely) benign	1 lab	d826c1d832
17:78085824 GAA C>G	17	78085824	78085824	C	G	GAA	c.1679C>G	NM_000152.3	NP_000143.2:p.(Ser560Cys)	NC_000017.10:g.78085824C>G	VUS	1 lab	d82a8c5030
4:126372808 FAT4 A>G	4	126372808	126372808	A	G	FAT4	c.10643A>G	NM_001291303.1	NP_001278232.1:p.(Tyr3548Cys)	NC_000004.11:g.126372808A>G	VUS	1 lab	d82acfb0bc
12:115109928 TBX3 C>T	12	115109928	115109928	C	T	TBX3	c.1950G>A	NM_016569.3	NP_057653.3:p.(Pro650=)	NC_000012.11:g.115109928C>T	(Likely) benign	1 lab	d82ad3052b
X:67940188 STARD8 G>A	X	67940188	67940188	G	A	STARD8	c.1972G>A	NM_001142503.2	NP_001135975.1:p.(Val658Met)	NC_000023.10:g.67940188G>A	VUS	1 lab	d82da76926
4:1806146 FGFR3 G>C	4	1806146	1806146	G	C	FGFR3	c.1165G>C	NM_000142.4	NP_000133.1:p.(Val389Leu)	NC_000004.11:g.1806146G>C	(Likely) benign	1 lab	d82e2bce73
X:48340994 FTSJ1 G>A	X	48340994	48340994	G	A	FTSJ1	c.763G>A	NM_177439.2	NP_803188.1:p.(Gly255Ser)	NC_000023.10:g.48340994G>A	(Likely) benign	1 lab	d82ee544f1
1:235922435 LYST G>A	1	235922435	235922435	G	A	LYST	c.6718C>T	NM_001301365.1	NP_001288294.1:p.(His2240Tyr)	NC_000001.10:g.235922435G>A	(Likely) benign	1 lab	d82ef87922
6:170156415 ERMARD T>C	6	170156415	170156415	T	C	ERMARD	c.316-19T>C	NM_018341.2	NP_060811.1:p.?	NC_000006.11:g.170156415T>C	(Likely) benign	1 lab	d82f1898e9
3:151155329 IGSF10 T>G	3	151155329	151155329	T	G	IGSF10	c.7020A>C	NM_178822.4	NP_849144.2:p.(Arg2340Ser)	NC_000003.11:g.151155329T>G	VUS	1 lab	d8302548ce
9:141015982 CACNA1B G>A	9	141015982	141015982	G	A	CACNA1B	c.6551G>A	NM_000718.3	NP_000709.1:p.(Arg2184His)	NC_000009.11:g.141015982G>A	VUS	1 lab	d8304f4020
15:30900894 GOLGA8H C>T	15	30900894	30900894	C	T	GOLGA8H	c.526C>T	NM_001282490.1	NP_001269419.1:p.(Arg176Cys)	NC_000015.9:g.30900894C>T	(Likely) benign	1 lab	d83084119a
X:153073840 PDZD4 T>G	X	153073840	153073840	T	G	PDZD4	c.271A>C	NM_001303512.1	NP_001290441.1:p.(Thr91Pro)	NC_000023.10:g.153073840T>G	(Likely) benign	1 lab	d83181ec8f
6:32017187 TNXB T>C	6	32017187	32017187	T	C	TNXB	c.9611A>G	NM_019105.6	NP_061978.6:p.(Gln3204Arg)	NC_000006.11:g.32017187T>C	(Likely) benign	1 lab	d83312cf24
19:11347464 DOCK6 C>T	19	11347464	11347464	C	T	DOCK6	c.2160+5G>A	NM_020812.3	NP_065863.2:p.?	NC_000019.9:g.11347464C>T	(Likely) benign	1 lab	d833dcc580
12:58024046 B4GALNT1 C>G	12	58024046	58024046	C	G	B4GALNT1	c.601G>C	NM_001478.4	NP_001469.1:p.(Glu201Gln)	NC_000012.11:g.58024046C>G	VUS	1 lab	d8358e1432
19:58213725 ZNF154 AG>A	19	58213725	58213727	AG	A	ZNF154	c.591del	NM_001085384.3	NP_001078853.1:p.(Phe198LeufsTer92)	NC_000019.9:g.58213727del	VUS	1 lab	d83692e101
9:137710589 COL5A1 C>G	9	137710589	137710589	C	G	COL5A1	c.4318C>G	NM_000093.4	NP_000084.3:p.(Arg1440Gly)	NC_000009.11:g.137710589C>G	VUS	1 lab	d8371c3353
2:170063677 LRP2 G>A	2	170063677	170063677	G	A	LRP2	c.6553C>T	NM_004525.3	NP_004516.2:p.(Leu2185Phe)	NC_000002.11:g.170063677G>A	VUS	1 lab	d8373528eb
2:223085008 PAX3 T>G	2	223085008	223085008	T	G	PAX3	c.1024A>C	NM_181458.3	NP_852123.1:p.(Ser342Arg)	NC_000002.11:g.223085008T>G	VUS	1 lab	d83738c514
5:82815352 VCAN A>G	5	82815352	82815352	A	G	VCAN	c.1227A>G	NM_004385.4	NP_004376.2:p.(Thr409=)	NC_000005.9:g.82815352A>G	(Likely) benign	1 lab	d839a81119
X:153881613 CTAG2 G>C	X	153881613	153881613	G	C	CTAG2	c.177C>G	NM_020994.4	NP_066274.2:p.(Gly59=)	NC_000023.10:g.153881613G>C	(Likely) benign	1 lab	d839c9fa9b
17:57759089 CLTC C>T	17	57759089	57759089	C	T	CLTC	c.3343C>T	NM_001288653.1	NP_001275582.1:p.(Leu1115Phe)	NC_000017.10:g.57759089C>T	VUS	1 lab	d83a49fce2
1:27023342 ARID1A T>C	1	27023342	27023342	T	C	ARID1A	c.448T>C	NM_006015.4	NP_006006.3:p.(Phe150Leu)	NC_000001.10:g.27023342T>C	VUS	1 lab	d83b19ae8a
4:26483654 CCKAR C>G	4	26483654	26483654	C	G	CCKAR	c.893G>C	NM_000730.2	NP_000721.1:p.(Ser298Thr)	NC_000004.11:g.26483654C>G	VUS	1 lab	d83cbbaa8c
6:161139759 PLG G>A	6	161139759	161139759	G	A	PLG	c.985G>A	NM_000301.3	NP_000292.1:p.(Gly329Arg)	NC_000006.11:g.161139759G>A	VUS	1 lab	d83d1a0d97
X:16142147 GRPR A>C	X	16142147	16142147	A	C	GRPR	c.71A>C	NM_005314.2	NP_005305.1:p.(His24Pro)	NC_000023.10:g.16142147A>C	(Likely) benign	1 lab	d840bd4322
16:77465204 ADAMTS18 C>T	16	77465204	77465204	C	T	ADAMTS18	c.483G>A	NM_199355.3	NP_955387.1:p.(Thr161=)	NC_000016.9:g.77465204C>T	(Likely) benign	1 lab	d84118319c
8:10467149 RP1L1 C>T	8	10467149	10467149	C	T	RP1L1	c.4459G>A	NM_178857.5	NP_849188.4:p.(Gly1487Ser)	NC_000008.10:g.10467149C>T	VUS	1 lab	d84135e0ec
1:26648513 CRYBG2 T>C	1	26648513	26648513	T	C	CRYBG2	c.4932A>G	NM_001039775.3	NP_001034864.2:p.(Leu1644=)	NC_000001.10:g.26648513T>C	(Likely) benign	1 lab	d8414b88fc
15:51503043 CYP19A1 A>C	15	51503043	51503043	A	C	CYP19A1	c.1474T>G	NM_031226.2	NP_112503.1:p.(Phe492Val)	NC_000015.9:g.51503043A>C	VUS	1 lab	d84504ee27
7:27805554 TAX1BP1 T>G	7	27805554	27805554	T	G	TAX1BP1	c.367T>G	NM_006024.6	NP_006015.4:p.(Ser123Ala)	NC_000007.13:g.27805554T>G	(Likely) benign	1 lab	d8450e75f9
8:140630941 KCNK9 G>A	8	140630941	140630941	G	A	KCNK9	c.685C>T	NM_001282534.1	NP_001269463.1:p.(Leu229=)	NC_000008.10:g.140630941G>A	(Likely) benign	1 lab	d8466101c6
X:63410197 AMER1 C>A	X	63410197	63410197	C	A	AMER1	c.2970G>T	NM_152424.4	NP_689637.3:p.(Arg990Ser)	NC_000023.10:g.63410197C>A	(Likely) benign	1 lab	d846b0ca56
5:73144921 ARHGEF28 C>T	5	73144921	73144921	C	T	ARHGEF28	c.1747+9C>T	NM_001080479.2	NP_001073948.2:p.?	NC_000005.9:g.73144921C>T	(Likely) benign	1 lab	d84988ac0f
14:105418275 AHNAK2 T>G	14	105418275	105418275	T	G	AHNAK2	c.3513A>C	NM_138420.3	NP_612429.2:p.(Pro1171=)	NC_000014.8:g.105418275T>G	(Likely) benign	1 lab	d849ff2a57
5:89989727 ADGRV1 T>C	5	89989727	89989727	T	C	ADGRV1	c.7154T>C	NM_032119.4	NP_115495.3:p.(Leu2385Pro)	NC_000005.9:g.89989727T>C	VUS	1 lab	d84a3caca4
8:100523656 VPS13B C>T	8	100523656	100523656	C	T	VPS13B	c.4624C>T	NM_017890.4	NP_060360.3:p.(Arg1542Cys)	NC_000008.10:g.100523656C>T	VUS	1 lab	d84ad9adf7
5:149499630 PDGFRB G>A	5	149499630	149499630	G	A	PDGFRB	c.2643C>T	NM_002609.3	NP_002600.1:p.(Thr881=)	NC_000005.9:g.149499630G>A	(Likely) benign	1 lab	d84c0c6e5f
17:8146361 CTC1 T>C	17	8146361	8146361	T	C	CTC1	c.139A>G	NM_025099.6	NP_079375.3:p.(Lys47Glu)	NC_000017.10:g.8146361T>C	VUS	1 lab	d84ca102ca
15:90320146 MESP2 G>A	15	90320146	90320146	G	A	MESP2	c.558G>A	NM_001039958.2	NP_001035047.1:p.(Gln186=)	NC_000015.9:g.90320146G>A	(Likely) benign	1 lab	d84cbd652f
5:147504364 SPINK5 A>T	5	147504364	147504364	A	T	SPINK5	c.2703A>T	NM_001127698.1	NP_001121170.1:p.(Glu901Asp)	NC_000005.9:g.147504364A>T	VUS	1 lab	d84cc2f942
22:18912625 PRODH G>A	22	18912625	18912625	G	A	PRODH	c.606C>T	NM_016335.4	NP_057419.4:p.(Tyr202=)	NC_000022.10:g.18912625G>A	(Likely) benign	1 lab	d84d053357
13:108862905 LIG4 T>C	13	108862905	108862905	T	C	LIG4	c.712A>G	NM_001352599.1	NP_001339528.1:p.(Ile238Val)	NC_000013.10:g.108862905T>C	(Likely) benign	1 lab	d84d3177f6
X:10058861 WWC3 C>T	X	10058861	10058861	C	T	WWC3	c.428C>T	NM_015691.3	NP_056506.2:p.(Ala143Val)	NC_000023.10:g.10058861C>T	(Likely) benign	1 lab	d84dd127ef
3:197428721 RUBCN G>A	3	197428721	197428721	G	A	RUBCN	c.405C>T	NM_001145642.4	NP_001139114.1:p.(His135=)	NC_000003.11:g.197428721G>A	(Likely) benign	1 lab	d8501d1cb4
5:149460400 CSF1R C>T	5	149460400	149460400	C	T	CSF1R	c.237G>A	NM_005211.3	NP_005202.2:p.(Thr79=)	NC_000005.9:g.149460400C>T	(Likely) benign	1 lab	d851cabb6f
10:135106137 TUBGCP2 G>A	10	135106137	135106137	G	A	TUBGCP2	c.1164C>T	NM_001256617.1	NP_001243546.1:p.(His388=)	NC_000010.10:g.135106137G>A	(Likely) benign	1 lab	d851d8a1d1
1:89273289 PKN2 T>A	1	89273289	89273289	T	A	PKN2	c.1962+2T>A	NM_001320709.1	NP_001307638.1:p.?	NC_000001.10:g.89273289T>A	VUS	1 lab	d851e3a637
7:82595130 PCLO C>A	7	82595130	82595130	C	A	PCLO	c.3974G>T	NM_033026.5	NP_149015.2:p.(Cys1325Phe)	NC_000007.13:g.82595130C>A	(Likely) benign	1 lab	d852da7f18
10:124800117 ACADSB A>T	10	124800117	124800117	A	T	ACADSB	c.439A>T	NM_001609.3	NP_001600.1:p.(Asn147Tyr)	NC_000010.10:g.124800117A>T	VUS	1 lab	d8532164d5
11:64956155 CAPN1 C>T	11	64956155	64956155	C	T	CAPN1	c.1103C>T	NM_001198868.1	NP_001185797.1:p.(Thr368Ile)	NC_000011.9:g.64956155C>T	VUS	1 lab	d8557b0b13
14:104639804 KIF26A G>A	14	104639804	104639804	G	A	KIF26A	c.1821G>A	NM_015656.1	NP_056471.1:p.(Thr607=)	NC_000014.8:g.104639804G>A	(Likely) benign	1 lab	d855abaf97
2:186668929 FSIP2 C>T	2	186668929	186668929	C	T	FSIP2	c.14896C>T	NM_173651.3	NP_775922.3:p.(His4966Tyr)	NC_000002.11:g.186668929C>T	VUS	1 lab	d856af6a5c
9:139571909 AGPAT2 G>A	9	139571909	139571909	G	A	AGPAT2	c.282C>T	NM_006412.3	NP_006403.2:p.(Ile94=)	NC_000009.11:g.139571909G>A	(Likely) benign	1 lab	d85789c721
6:143081466 HIVEP2 T>A	6	143081466	143081466	T	A	HIVEP2	c.5959A>T	NM_006734.3	NP_006725.3:p.(Ser1987Cys)	NC_000006.11:g.143081466T>A	VUS	1 lab	d85bad93cc
17:27085690 FAM222B C>T	17	27085690	27085690	C	T	FAM222B	c.1293G>A	NM_001288631.1	NP_001275560.1:p.(Pro431=)	NC_000017.10:g.27085690C>T	(Likely) benign	1 lab	d85ccfde46
X:19045356 ADGRG2 G>A	X	19045356	19045356	G	A	ADGRG2	c.451C>T	NM_001079858.2	NP_001073327.1:p.(Leu151=)	NC_000023.10:g.19045356G>A	(Likely) benign	1 lab	d85d8ea16d
1:39951243 MACF1 G>A	1	39951243	39951243	G	A	MACF1	c.16070G>A	NM_012090.5	NP_036222.3:p.(Arg5357Gln)	NC_000001.10:g.39951243G>A	(Likely) benign	1 lab	d85de6e39b
7:4829528 AP5Z1 C>T	7	4829528	4829528	C	T	AP5Z1	c.1773C>T	NM_014855.3	NP_055670.1:p.(Tyr591=)	NC_000007.13:g.4829528C>T	(Likely) benign	1 lab	d85e8e28bf
10:81319123 SFTPA2 G>A	10	81319123	81319123	G	A	SFTPA2	c.117C>T	NM_001098668.3	NP_001092138.1:p.(His39=)	NC_000010.10:g.81319123G>A	(Likely) benign	1 lab	d85fc253a5
14:21623742 MISSING C>T	14	21623742	21623742	C	T	MISSING				NC_000014.8:g.21623742C>T	VUS	1 lab	d85fc32f61
9:137698079 COL5A1 C>T	9	137698079	137698079	C	T	COL5A1	c.3303C>T	NM_000093.4	NP_000084.3:p.(Ile1101=)	NC_000009.11:g.137698079C>T	(Likely) benign	1 lab	d86090e5a1
2:20178541 WDR35 T>A	2	20178541	20178541	T	A	WDR35	c.407A>T	NM_001006657.1	NP_001006658.1:p.(Asp136Val)	NC_000002.11:g.20178541T>A	VUS	1 lab	d860df892a
11:61537835 MYRF C>A	11	61537835	61537835	C	A	MYRF	c.578C>A	NM_001127392.2	NP_001120864.1:p.(Pro193Gln)	NC_000011.9:g.61537835C>A	VUS	1 lab	d861a7604e
2:219520930 ZNF142 T>G	2	219520930	219520930	T	G	ZNF142	c.223A>C	NM_001105537.2	NP_001099007.1:p.(Ile75Leu)	NC_000002.11:g.219520930T>G	(Likely) benign	1 lab	d861a9aa50
22:18907007 PRODH A>G	22	18907007	18907007	A	G	PRODH	c.1208T>C	NM_016335.4	NP_057419.4:p.(Val403Ala)	NC_000022.10:g.18907007A>G	(Likely) benign	1 lab	d8627956be
20:422348 TBC1D20 T>G	20	422348	422348	T	G	TBC1D20	c.525-15A>C	NM_144628.3	NP_653229.1:p.?	NC_000020.10:g.422348T>G	(Likely) benign	1 lab	d8637d4083
5:39341378 C9 G>A	5	39341378	39341378	G	A	C9	c.346C>T	NM_001737.3	NP_001728.1:p.(Arg116Ter)	NC_000005.9:g.39341378G>A	(Likely) pathogenic	1 lab	d86417a052
16:28500665 CLN3 C>T	16	28500665	28500665	C	T	CLN3	c.168G>A	NM_001042432.1	NP_001035897.1:p.(Leu56=)	NC_000016.9:g.28500665C>T	(Likely) benign	1 lab	d8650caf24
19:50308795 AP2A1 G>T	19	50308795	50308795	G	T	AP2A1	c.2496G>T	NM_014203.2	NP_055018.2:p.(Arg832=)	NC_000019.9:g.50308795G>T	(Likely) benign	1 lab	d86535bfc7
X:140994247 MAGEC1 A>C	X	140994247	140994247	A	C	MAGEC1	c.1057A>C	NM_005462.4	NP_005453.2:p.(Ile353Leu)	NC_000023.10:g.140994247A>C	(Likely) benign	1 lab	d865f411c3
2:84851636 DNAH6 C>T	2	84851636	84851636	C	T	DNAH6	c.4245C>T	NM_001370.1	NP_001361.1:p.(Tyr1415=)	NC_000002.11:g.84851636C>T	(Likely) benign	1 lab	d867ab8b56
2:231048298 SP110 A>C	2	231048298	231048298	A	C	SP110	c.1338T>G	NM_080424.2	NP_536349.2:p.(Ile446Met)	NC_000002.11:g.231048298A>C	(Likely) benign	1 lab	d867b87f15
6:83889684 PGM3 T>G	6	83889684	83889684	T	G	PGM3	c.874A>C	NM_001199917.2	NP_001186846.1:p.(Met292Leu)	NC_000006.11:g.83889684T>G	(Likely) benign	1 lab	d8683ac290
16:68721492 CDH3 C>T	16	68721492	68721492	C	T	CDH3	c.1648C>T	NM_001317195.1	NP_001304124.1:p.(Pro550Ser)	NC_000016.9:g.68721492C>T	VUS	1 lab	d869589455
17:45774508 TBKBP1 C>T	17	45774508	45774508	C	T	TBKBP1	c.402C>T	NM_014726.2	NP_055541.1:p.(Tyr134=)	NC_000017.10:g.45774508C>T	(Likely) benign	1 lab	d86a413d25
17:29654664 NF1 CA>C	17	29654664	29654665	CA	C	NF1	c.5417del	NM_001042492.3	NP_001035957.1:p.(Gln1806ArgfsTer57)	NC_000017.10:g.29654665del	(Likely) pathogenic	1 lab	d86cafed41
1:20975135 PINK1 G>A	1	20975135	20975135	G	A	PINK1	c.1251+10G>A	NM_032409.2	NP_115785.1:p.?	NC_000001.10:g.20975135G>A	(Likely) benign	1 lab	d86d7a4d1e
20:10389431 MKKS G>C	20	10389431	10389431	G	C	MKKS	c.1006C>G	NM_018848.3	NP_061336.1:p.(Leu336Val)	NC_000020.10:g.10389431G>C	(Likely) benign	1 lab	d86e64a7ae
5:70798509 BDP1 C>G	5	70798509	70798509	C	G	BDP1	c.2132C>G	NM_018429.2	NP_060899.2:p.(Pro711Arg)	NC_000005.9:g.70798509C>G	VUS	1 lab	d8714a29f3
4:88533601 DSPP T>G	4	88533601	88533601	T	G	DSPP	c.263T>G	NM_014208.3	NP_055023.2:p.(Val88Gly)	NC_000004.11:g.88533601T>G	VUS	1 lab	d871a359b0
2:26703128 OTOF C>T	2	26703128	26703128	C	T	OTOF	c.1855G>A	NM_194248.2	NP_919224.1:p.(Ala619Thr)	NC_000002.11:g.26703128C>T	VUS	1 lab	d8745e31df
1:236849995 ACTN2 G>A	1	236849995	236849995	G	A	ACTN2	c.22G>A	NM_001103.3	NP_001094.1:p.(Val8Met)	NC_000001.10:g.236849995G>A	(Likely) benign	1 lab	d8752f7d71
16:85698710 GSE1 G>C	16	85698710	85698710	G	C	GSE1	c.2734G>C	NM_014615.4	NP_055430.1:p.(Asp912His)	NC_000016.9:g.85698710G>C	VUS	1 lab	d87814aca8
8:26627844 ADRA1A G>C	8	26627844	26627844	G	C	ADRA1A	c.1223C>G	NM_033302.3	NP_150645.2:p.(Ala408Gly)	NC_000008.10:g.26627844G>C	VUS	1 lab	d878868c13
X:99663235 PCDH19 C>T	X	99663235	99663235	C	T	PCDH19	c.361G>A	NM_001184880.1	NP_001171809.1:p.(Asp121Asn)	NC_000023.10:g.99663235C>T	(Likely) pathogenic	1 lab	d87900c273
18:30260474 KLHL14 A>G	18	30260474	30260474	A	G	KLHL14	c.1327T>C	NM_020805.2	NP_065856.1:p.(Cys443Arg)	NC_000018.9:g.30260474A>G	(Likely) benign	1 lab	d87ac9cfff
2:172330448 DCAF17 T>C	2	172330448	172330448	T	C	DCAF17	c.1054T>C	NM_025000.3	NP_079276.2:p.(Ser352Pro)	NC_000002.11:g.172330448T>C	VUS	1 lab	d87cc38577
22:34022259 LARGE1 C>T	22	34022259	34022259	C	T	LARGE1	c.460G>A	NM_133642.4	NP_598397.1:p.(Val154Ile)	NC_000022.10:g.34022259C>T	VUS	1 lab	d87e175691
15:62211502 VPS13C G>A	15	62211502	62211502	G	A	VPS13C	c.7624C>T	NM_001018088.2	NP_001018098.1:p.(Arg2542Cys)	NC_000015.9:g.62211502G>A	VUS	1 lab	d87f02b5c3
14:24550546 NRL C>T	14	24550546	24550546	C	T	NRL	c.613G>A	NM_006177.4	NP_006168.1:p.(Val205Met)	NC_000014.8:g.24550546C>T	VUS	1 lab	d87fa275a2
22:38121795 TRIOBP C>T	22	38121795	38121795	C	T	TRIOBP	c.3232C>T	NM_001039141.2	NP_001034230.1:p.(Arg1078Cys)	NC_000022.10:g.38121795C>T	VUS	1 lab	d8824702e7
17:4027276 ZZEF1 T>A	17	4027276	4027276	T	A	ZZEF1	c.424A>T	NM_015113.4	NP_055928.3:p.(Asn142Tyr)	NC_000017.10:g.4027276T>A	VUS	1 lab	d8829367b2
18:44549397 MISSING G>C	18	44549397	44549397	G	C	MISSING				NC_000018.9:g.44549397G>C	(Likely) benign	1 lab	d883374451
X:153595124 FLNA C>T	X	153595124	153595124	C	T	FLNA	c.963G>A	NM_001110556.2	NP_001104026.1:p.(Glu321=)	NC_000023.10:g.153595124C>T	(Likely) benign	1 lab	d88354f478
11:73796709 C2CD3 C>T	11	73796709	73796709	C	T	C2CD3	c.3864G>A	NM_001286577.1	NP_001273506.1:p.(Glu1288=)	NC_000011.9:g.73796709C>T	(Likely) benign	1 lab	d8846f1c62
X:153627842 RPL10 A>G	X	153627842	153627842	A	G	RPL10	c.97A>G	NM_001303625.1	NP_001290554.1:p.(Ile33Val)	NC_000023.10:g.153627842A>G	VUS	1 lab	d885b4abca
3:38627359 SCN5A G>A	3	38627359	38627359	G	A	SCN5A	c.2610C>T	NM_001099404.1	NP_001092874.1:p.(Asp870=)	NC_000003.11:g.38627359G>A	(Likely) benign	1 lab	d888145d5d
3:188327553 LPP T>G	3	188327553	188327553	T	G	LPP	c.1034T>G	NM_005578.4	NP_005569.1:p.(Met345Arg)	NC_000003.11:g.188327553T>G	VUS	1 lab	d889d94284
8:100791175 VPS13B C>T	8	100791175	100791175	C	T	VPS13B	c.7770C>T	NM_017890.4	NP_060360.3:p.(Cys2590=)	NC_000008.10:g.100791175C>T	(Likely) benign	1 lab	d88d0de511
6:27792117 H4C11 C>T	6	27792117	27792117	C	T	H4C11	c.215C>T	NM_021968.3	NP_068803.1:p.(Thr72Ile)	NC_000006.11:g.27792117C>T	VUS	1 lab	d88d6de228
X:40448332 ATP6AP2 C>T	X	40448332	40448332	C	T	ATP6AP2	c.132C>T	NM_005765.2	NP_005756.2:p.(Asp44=)	NC_000023.10:g.40448332C>T	(Likely) benign	1 lab	d88d82c4b3
19:35450340 ZNF792 C>T	19	35450340	35450340	C	T	ZNF792	c.419G>A	NM_175872.5	NP_787068.3:p.(Arg140His)	NC_000019.9:g.35450340C>T	(Likely) benign	1 lab	d88dcd0e12
2:179664279 TTN T>C	2	179664279	179664279	T	C	TTN	c.849A>G	NM_001267550.1	NP_001254479.1:p.(Pro283=)	NC_000002.11:g.179664279T>C	(Likely) benign	1 lab	d88e387231
8:27779581 SCARA5 C>T	8	27779581	27779581	C	T	SCARA5	c.423G>A	NM_173833.6	NP_776194.2:p.(Ala141=)	NC_000008.10:g.27779581C>T	(Likely) benign	1 lab	d88e63ab34
X:1407526 CSF2RA C>T	X	1407526	1407526	C	T	CSF2RA	c.334C>T	NM_001161529.1	NP_001155001.1:p.(Pro112Ser)	NC_000023.10:g.1407526C>T	(Likely) benign	1 lab	d88e9f14ce
18:7026115 LAMA1 T>C	18	7026115	7026115	T	C	LAMA1	c.2275-10A>G	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7026115T>C	(Likely) benign	1 lab	d88f05ff35
17:41242938 BRCA1 G>GCA	17	41242938	41242951	G	GCA	BRCA1	c.4185+21_4185+22dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41242950_41242951dup	(Likely) benign	1 lab	d8904f6566
17:40690752 NAGLU A>G	17	40690752	40690752	A	G	NAGLU	c.743A>G	NM_000263.3	NP_000254.2:p.(His248Arg)	NC_000017.10:g.40690752A>G	(Likely) pathogenic	1 lab	d8915f7fea
3:69988305 MITF C>T	3	69988305	69988305	C	T	MITF	c.588C>T	NM_001354607.1	NP_001341536.1:p.(Asn196=)	NC_000003.11:g.69988305C>T	(Likely) benign	1 lab	d8920f178d
4:166946502 TLL1 C>T	4	166946502	166946502	C	T	TLL1	c.1077C>T	NM_012464.4	NP_036596.3:p.(Asn359=)	NC_000004.11:g.166946502C>T	(Likely) benign	1 lab	d892cbe8de
3:123953756 KALRN C>A	3	123953756	123953756	C	A	KALRN	c.223C>A	NM_001024660.4	NP_001019831.2:p.(Arg75=)	NC_000003.11:g.123953756C>A	(Likely) benign	1 lab	d893efe99b
3:142281600 ATR C>T	3	142281600	142281600	C	T	ATR	c.644G>A	NM_001184.3	NP_001175.2:p.(Arg215His)	NC_000003.11:g.142281600C>T	(Likely) benign	1 lab	d896a007f3
16:88495102 ZNF469 G>A	16	88495102	88495102	G	A	ZNF469				NC_000016.9:g.88495102G>A	(Likely) benign	1 lab	d897270cc3
8:62595024 ASPH C>T	8	62595024	62595024	C	T	ASPH	c.185G>A	NM_032468.4	NP_115857.1:p.(Arg62His)	NC_000008.10:g.62595024C>T	VUS	1 lab	d897a14212
13:39263086 FREM2 C>T	13	39263086	39263086	C	T	FREM2	c.1605C>T	NM_207361.5	NP_997244.4:p.(Arg535=)	NC_000013.10:g.39263086C>T	VUS	1 lab	d898983df0
17:41247943 BRCA1 T>C	17	41247943	41247943	T	C	BRCA1	c.594-4A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41247943T>C	(Likely) benign	1 lab	d899fc7a74
14:77745168 POMT2 C>T	14	77745168	77745168	C	T	POMT2	c.1936G>A	NM_013382.5	NP_037514.2:p.(Gly646Ser)	NC_000014.8:g.77745168C>T	VUS	1 lab	d89db764a0
4:159606249 ETFDH A>G	4	159606249	159606249	A	G	ETFDH	c.488-4A>G	NM_004453.3	NP_004444.2:p.?	NC_000004.11:g.159606249A>G	(Likely) benign	1 lab	d8a04a959a
2:234366978 DGKD G>T	2	234366978	234366978	G	T	DGKD	c.2629G>T	NM_152879.2	NP_690618.2:p.(Val877Leu)	NC_000002.11:g.234366978G>T	VUS	1 lab	d8a05098aa
11:103126969 DYNC2H1 A>G	11	103126969	103126969	A	G	DYNC2H1	c.10482A>G	NM_001080463.1	NP_001073932.1:p.(Gln3494=)	NC_000011.9:g.103126969A>G	(Likely) benign	1 lab	d8a60d586e
6:135768200 AHI1 T>C	6	135768200	135768200	T	C	AHI1	c.1725A>G	NM_001134831.1	NP_001128303.1:p.(Glu575=)	NC_000006.11:g.135768200T>C	(Likely) benign	1 lab	d8a6b93b1c
6:32798502 TAP2 T>C	6	32798502	32798502	T	C	TAP2	c.1354A>G	NM_001290043.1	NP_001276972.1:p.(Asn452Asp)	NC_000006.11:g.32798502T>C	(Likely) benign	1 lab	d8a79794ec
9:140093764 TPRN G>C	9	140093764	140093764	G	C	TPRN	c.1400C>G	NM_001128228.3	NP_001121700.2:p.(Pro467Arg)	NC_000009.11:g.140093764G>C	(Likely) benign	1 lab	d8a92fd873
2:219527715 BCS1L C>T	2	219527715	219527715	C	T	BCS1L	c.999C>T	NM_004328.4	NP_004319.1:p.(His333=)	NC_000002.11:g.219527715C>T	(Likely) benign	1 lab	d8aad2e469
13:52542609 ATP7B C>T	13	52542609	52542609	C	T	ATP7B	c.1678G>A	NM_000053.3	NP_000044.2:p.(Ala560Thr)	NC_000013.10:g.52542609C>T	(Likely) benign	1 lab	d8ab5616b5
5:82841391 VCAN G>A	5	82841391	82841391	G	A	VCAN	c.9301G>A	NM_004385.4	NP_004376.2:p.(Gly3101Arg)	NC_000005.9:g.82841391G>A	VUS	1 lab	d8aea003e0
15:89870445 POLG C>T	15	89870445	89870445	C	T	POLG	c.1386G>A	NM_002693.2	NP_002684.1:p.(Ser462=)	NC_000015.9:g.89870445C>T	(Likely) benign	1 lab	d8aef8c898
18:7023154 LAMA1 C>T	18	7023154	7023154	C	T	LAMA1	c.2701+9G>A	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7023154C>T	(Likely) benign	1 lab	d8afef9a4c
X:77245118 ATP7A G>A	X	77245118	77245118	G	A	ATP7A	c.1000G>A	NM_000052.6	NP_000043.4:p.(Ala334Thr)	NC_000023.10:g.77245118G>A	VUS	1 lab	d8b4cd34ed
X:85149199 CHM C>T	X	85149199	85149199	C	T	CHM	c.1504G>A	NM_000390.2	NP_000381.1:p.(Gly502Ser)	NC_000023.10:g.85149199C>T	VUS	1 lab	d8b5d01344
22:28394582 TTC28 C>A	22	28394582	28394582	C	A	TTC28	c.5065G>T	NM_001145418.1	NP_001138890.1:p.(Ala1689Ser)	NC_000022.10:g.28394582C>A	VUS	1 lab	d8bff31310
15:42446564 PLA2G4F C>T	15	42446564	42446564	C	T	PLA2G4F	c.277G>A	NM_213600.3	NP_998765.3:p.(Glu93Lys)	NC_000015.9:g.42446564C>T	(Likely) benign	1 lab	d8b6644f30
10:112544117 RBM20 A>T	10	112544117	112544117	A	T	RBM20	c.1356A>T	NM_001134363.1	NP_001127835.1:p.(Ile452=)	NC_000010.10:g.112544117A>T	(Likely) benign	1 lab	d8b6aa7409
14:77745201 POMT2 C>T	14	77745201	77745201	C	T	POMT2	c.1903G>A	NM_013382.5	NP_037514.2:p.(Val635Ile)	NC_000014.8:g.77745201C>T	(Likely) benign	1 lab	d8b6f5ec76
1:152281556 FLG C>G	1	152281556	152281556	C	G	FLG	c.5806G>C	NM_002016.1	NP_002007.1:p.(Gly1936Arg)	NC_000001.10:g.152281556C>G	VUS	1 lab	d8b7a58554
20:62120467 EEF1A2 G>A	20	62120467	62120467	G	A	EEF1A2	c.1068C>T	NM_001958.3	NP_001949.1:p.(Gly356=)	NC_000020.10:g.62120467G>A	(Likely) benign	1 lab	d8b7c1a87c
11:1265192 MUC5B G>A	11	1265192	1265192	G	A	MUC5B	c.7082G>A	NM_002458.2	NP_002449.2:p.(Arg2361His)	NC_000011.9:g.1265192G>A	(Likely) benign	1 lab	d8b7dea5d1
6:118881580 PLN G>A	6	118881580	118881580	G	A	PLN	c.*1337G>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118881580G>A	(Likely) benign	1 lab	d8b7ff8694
15:100657067 ADAMTS17 C>A	15	100657067	100657067	C	A	ADAMTS17	c.1873G>T	NM_139057.3	NP_620688.2:p.(Ala625Ser)	NC_000015.9:g.100657067C>A	VUS	1 lab	d8b8804798
X:89177637 TGIF2LX G>A	X	89177637	89177637	G	A	TGIF2LX	c.553G>A	NM_138960.3	NP_620410.3:p.(Gly185Arg)	NC_000023.10:g.89177637G>A	(Likely) benign	1 lab	d8bbba3b11
11:120996458 TECTA G>A	11	120996458	120996458	G	A	TECTA	c.1651G>A	NM_005422.2	NP_005413.2:p.(Val551Met)	NC_000011.9:g.120996458G>A	VUS	1 lab	d8bff1e1ee
15:67073668 SMAD6 AG>A	15	67073668	67073670	AG	A	SMAD6	c.1288del	NM_005585.5	NP_005576.3:p.(Val430CysfsTer109)	NC_000015.9:g.67073670del	(Likely) pathogenic	1 lab	d8c05f8eb8
10:76781875 KAT6B A>C	10	76781875	76781875	A	C	KAT6B	c.3258A>C	NM_012330.3	NP_036462.2:p.(Glu1086Asp)	NC_000010.10:g.76781875A>C	(Likely) benign	1 lab	d8c4726321
13:79189797 OBI1 T>A	13	79189797	79189797	T	A	OBI1	c.2099A>T	NM_024546.4	NP_078822.3:p.(Asn700Ile)	NC_000013.10:g.79189797T>A	VUS	1 lab	d8c48cc111
7:1519315 INTS1 G>A	7	1519315	1519315	G	A	INTS1	c.4080C>T	NM_001080453.3	NP_001073922.2:p.(Phe1360=)	NC_000007.13:g.1519315G>A	(Likely) benign	1 lab	d8c564d172
X:135429360 ADGRG4 G>A	X	135429360	135429360	G	A	ADGRG4	c.3495G>A	NM_153834.3	NP_722576.3:p.(Thr1165=)	NC_000023.10:g.135429360G>A	(Likely) benign	1 lab	d8c6f20c75
12:40745452 LRRK2 G>A	12	40745452	40745452	G	A	LRRK2	c.6493G>A	NM_198578.3	NP_940980.3:p.(Ala2165Thr)	NC_000012.11:g.40745452G>A	(Likely) benign	1 lab	d8c7fac116
7:34125588 BMPER T>C	7	34125588	34125588	T	C	BMPER	c.1629T>C	NM_133468.5	NP_597725.1:p.(Pro543=)	NC_000007.13:g.34125588T>C	(Likely) benign	1 lab	d8c87b0150
6:18122368 NHLRC1 CCT>C	6	18122368	18122370	CCT	C	NHLRC1	c.468_469del	NM_198586.3	NP_940988.2:p.(Gly158ArgfsTer17)	NC_000006.11:g.18122369_18122370del	(Likely) pathogenic	1 lab	d8c897ff58
1:247582327 NLRP3 G>T	1	247582327	247582327	G	T	NLRP3	c.225G>T	NM_001243133.1	NP_001230062.1:p.(Ala75=)	NC_000001.10:g.247582327G>T	(Likely) benign	1 lab	d8c8d8e621
5:13894790 DNAH5 C>T	5	13894790	13894790	C	T	DNAH5	c.2400G>A	NM_001369.2	NP_001360.1:p.(Glu800=)	NC_000005.9:g.13894790C>T	(Likely) benign	1 lab	d8c90ada90
19:12958197 MAST1 G>A	19	12958197	12958197	G	A	MAST1	c.421G>A	NM_014975.2	NP_055790.1:p.(Glu141Lys)	NC_000019.9:g.12958197G>A	VUS	1 lab	d8c9613af4
19:58772284 ZNF544 C>T	19	58772284	58772284	C	T	ZNF544	c.312C>T	NM_001320769.1	NP_001307698.1:p.(Ser104=)	NC_000019.9:g.58772284C>T	(Likely) benign	1 lab	d8cd8ea8c1
17:79974862 ASPSCR1 T>C	17	79974862	79974862	T	C	ASPSCR1	c.1803T>C	NM_001251888.1	NP_001238817.1:p.(Pro601=)	NC_000017.10:g.79974862T>C	(Likely) benign	1 lab	d8cebe2fdb
7:98775656 KPNA7 A>G	7	98775656	98775656	A	G	KPNA7	c.1351T>C	NM_001145715.2	NP_001139187.1:p.(Cys451Arg)	NC_000007.13:g.98775656A>G	VUS	1 lab	d8d0592737
1:203015095 PPFIA4 A>C	1	203015095	203015095	A	C	PPFIA4	c.985A>C	NM_001304331.1	NP_001291260.1:p.(Lys329Gln)	NC_000001.10:g.203015095A>C	(Likely) benign	1 lab	d8d26dfa8d
18:20573080 RBBP8 T>A	18	20573080	20573080	T	A	RBBP8	c.1290T>A	NM_002894.2	NP_002885.1:p.(Thr430=)	NC_000018.9:g.20573080T>A	(Likely) benign	1 lab	d8d418f04e
3:156266749 SSR3 G>C	3	156266749	156266749	G	C	SSR3	c.304C>G	NM_001308197.1	NP_001295126.1:p.(Arg102Gly)	NC_000003.11:g.156266749G>C	VUS	1 lab	d8d552e15f
17:36484512 GPR179 G>A	17	36484512	36484512	G	A	GPR179	c.4940C>T	NM_001004334.3	NP_001004334.3:p.(Ala1647Val)	NC_000017.10:g.36484512G>A	(Likely) benign	1 lab	d8d624194a
6:41753915 PRICKLE4 A>G	6	41753915	41753915	A	G	PRICKLE4	c.632A>G	NM_013397.5	NP_037529.3:p.(Glu211Gly)	NC_000006.11:g.41753915A>G	VUS	1 lab	d8d6b04799
1:1558913 MIB2 C>T	1	1558913	1558913	C	T	MIB2	c.426C>T	NM_080875.2	NP_543151.2:p.(Asp142=)	NC_000001.10:g.1558913C>T	(Likely) benign	1 lab	d8d868e954
17:29576126 NF1 TGTTT>AA	17	29576126	29576130	TGTTT	AA	NF1	c.4099_4103delinsAA	NM_000267.3	NP_000258.1:p.(Cys1367_Leu1368delinsLys)	NC_000017.10:g.29576126_29576130delinsAA	(Likely) pathogenic	1 lab	d8da95d2b2
11:110104062 RDX G>A	11	110104062	110104062	G	A	RDX	c.1487C>T	NM_002906.3	NP_002897.1:p.(Ala496Val)	NC_000011.9:g.110104062G>A	VUS	1 lab	d8db4f8e7a
X:48386802 EBP C>T	X	48386802	48386802	C	T	EBP	c.650C>T	NM_006579.2	NP_006570.1:p.(Thr217Met)	NC_000023.10:g.48386802C>T	(Likely) benign	1 lab	d8de3547d7
10:55782824 PCDH15 T>C	10	55782824	55782824	T	C	PCDH15				NC_000010.10:g.55782824T>C	VUS	1 lab	d8deef8f76
17:29546125 NF1 G>T	17	29546125	29546125	G	T	NF1	c.1630G>T	NM_000267.3	NP_000258.1:p.(Glu544Ter)	NC_000017.10:g.29546125G>T	(Likely) pathogenic	1 lab	d8e2947f1f
8:48734363 PRKDC A>C	8	48734363	48734363	A	C	PRKDC	c.8923-10T>G	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48734363A>C	(Likely) benign	1 lab	d8e29b30a4
6:152454460 SYNE1 C>T	6	152454460	152454460	C	T	SYNE1	c.25952G>A	NM_182961.3	NP_892006.3:p.(Arg8651His)	NC_000006.11:g.152454460C>T	(Likely) benign	1 lab	d8e44436f2
1:33237885 NHSL3 A>C	1	33237885	33237885	A	C	NHSL3	c.3105A>C	NM_020888.3	NP_065939.2:p.(Pro1035=)	NC_000001.10:g.33237885A>C	(Likely) benign	1 lab	d8e4d36e04
9:65505933 SPATA31A7 G>A	9	65505933	65505933	G	A	SPATA31A7	c.1627C>T	NM_015667.2	NP_056482.2:p.(Pro543Ser)	NC_000009.11:g.65505933G>A	(Likely) benign	1 lab	d8e524b5cb
6:80635958 ELOVL4 T>C	6	80635958	80635958	T	C	ELOVL4	c.241A>G	NM_022726.3	NP_073563.1:p.(Ile81Val)	NC_000006.11:g.80635958T>C	(Likely) benign	1 lab	d8e5a4e483
14:53619521 DDHD1 G>C	14	53619521	53619521	G	C	DDHD1	c.296C>G	NM_001160148.1	NP_001153620.1:p.(Ser99Trp)	NC_000014.8:g.53619521G>C	VUS	1 lab	d8e62d5e5d
16:2137930 TSC2 C>T	16	2137930	2137930	C	T	TSC2	c.5056C>T	NM_000548.3	NP_000539.2:p.(Gln1686Ter)	NC_000016.9:g.2137930C>T	(Likely) pathogenic	1 lab	d8e78631f9
2:179497148 TTN G>GA	2	179497148	179497156	G	GA	TTN	c.43481-9dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179497156dup	(Likely) benign	1 lab	d8e791de20
13:114817627 RASA3 C>T	13	114817627	114817627	C	T	RASA3	c.177G>A	NM_007368.4	NP_031394.2:p.(Pro59=)	NC_000013.10:g.114817627C>T	(Likely) benign	1 lab	d8e7cc8ab8
2:50692695 NRXN1 G>A	2	50692695	50692695	G	A	NRXN1	c.3369C>T	NM_001135659.2	NP_001129131.1:p.(Pro1123=)	NC_000002.11:g.50692695G>A	(Likely) benign	1 lab	d8e894902b
13:100634964 ZIC2 C>T	13	100634964	100634964	C	T	ZIC2	c.646C>T	NM_007129.4	NP_009060.2:p.(Pro216Ser)	NC_000013.10:g.100634964C>T	(Likely) benign	1 lab	d8e9852b5a
12:21954058 ABCC9 T>C	12	21954058	21954058	T	C	ABCC9	c.4570A>G	NM_020297.2	NP_064693.2:p.(Ile1524Val)	NC_000012.11:g.21954058T>C	VUS	1 lab	d8ea09c85d
5:31468095 DROSHA C>T	5	31468095	31468095	C	T	DROSHA	c.2317G>A	NM_013235.4	NP_037367.3:p.(Val773Ile)	NC_000005.9:g.31468095C>T	VUS	1 lab	d8ea3347d9
12:40740828 LRRK2 AT>A	12	40740828	40740836	AT	A	LRRK2	c.6280+111del	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40740836del	(Likely) benign	1 lab	d8ebb0973b
X:49834537 CLCN5 A>G	X	49834537	49834537	A	G	CLCN5	c.167A>G	NM_001127899.3	NP_001121371.1:p.(Asp56Gly)	NC_000023.10:g.49834537A>G	(Likely) benign	1 lab	d8ee6e6e28
21:47627453 LSS G>A	21	47627453	47627453	G	A	LSS	c.1356C>T	NM_002340.6	NP_002331.3:p.(Ile452=)	NC_000021.8:g.47627453G>A	(Likely) benign	1 lab	d8f215fff1
5:37170304 CPLANE1 T>C	5	37170304	37170304	T	C	CPLANE1	c.6301A>G	NM_023073.3	NP_075561.3:p.(Arg2101Gly)	NC_000005.9:g.37170304T>C	VUS	1 lab	d8f3084c4d
22:17601501 TMEM121B A>G	22	17601501	17601501	A	G	TMEM121B	c.517T>C	NM_031890.3	NP_114096.1:p.(Cys173Arg)	NC_000022.10:g.17601501A>G	VUS	1 lab	d8f32ac149
7:87563874 ADAM22 G>A	7	87563874	87563874	G	A	ADAM22	c.85+9G>A	NM_001324418.1	NP_001311347.1:p.?	NC_000007.13:g.87563874G>A	(Likely) benign	1 lab	d8f4b12c4a
8:6302033 MCPH1 A>G	8	6302033	6302033	A	G	MCPH1	c.790A>G	NM_024596.4	NP_078872.2:p.(Ile264Val)	NC_000008.10:g.6302033A>G	(Likely) benign	1 lab	d908b7e6fe
17:17697102 RAI1 G>A	17	17697102	17697102	G	A	RAI1	c.840G>A	NM_030665.3	NP_109590.3:p.(Gln280=)	NC_000017.10:g.17697102G>A	(Likely) benign	1 lab	d8f64d9d79
X:153583220 FLNA G>A	X	153583220	153583220	G	A	FLNA	c.5190C>T	NM_001110556.2	NP_001104026.1:p.(His1730=)	NC_000023.10:g.153583220G>A	(Likely) benign	1 lab	d8f6860a51
15:44918519 SPG11 C>A	15	44918519	44918519	C	A	SPG11	c.2244+10G>T	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44918519C>A	(Likely) benign	1 lab	d8fa156389
15:76668545 SCAPER G>A	15	76668545	76668545	G	A	SCAPER	c.3831C>T	NM_001353009.1	NP_001339938.1:p.(Ile1277=)	NC_000015.9:g.76668545G>A	(Likely) benign	1 lab	d8fb4ec02e
18:19395755 MIB1 G>A	18	19395755	19395755	G	A	MIB1	c.1658G>A	NM_020774.3	NP_065825.1:p.(Gly553Asp)	NC_000018.9:g.19395755G>A	VUS	1 lab	d8fcfd17b6
19:50213748 CPT1C T>A	19	50213748	50213748	T	A	CPT1C	c.1731+7T>A	NM_001199752.2	NP_001186681.1:p.?	NC_000019.9:g.50213748T>A	(Likely) benign	1 lab	d8ff66e539
X:1471042 IL3RA C>T	X	1471042	1471042	C	T	IL3RA	c.348C>T	NM_002183.3	NP_002174.1:p.(Asp116=)	NC_000023.10:g.1471042C>T	(Likely) benign	1 lab	d901bd6129
22:33679232 LARGE1 C>T	22	33679232	33679232	C	T	LARGE1	c.1833G>A	NM_004737.5	NP_004728.1:p.(Ala611=)	NC_000022.10:g.33679232C>T	(Likely) benign	1 lab	d9028846b5
4:995255 IDUA G>A	4	995255	995255	G	A	IDUA	c.494-1G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.995255G>A	(Likely) pathogenic	1 lab	d903a44116
X:23410715 PTCHD1 T>G	X	23410715	23410715	T	G	PTCHD1	c.1080T>G	NM_173495.2	NP_775766.2:p.(Val360=)	NC_000023.10:g.23410715T>G	(Likely) benign	1 lab	d90572a76e
X:47435625 SYN1 G>A	X	47435625	47435625	G	A	SYN1	c.1063C>T	NM_006950.3	NP_008881.2:p.(Leu355=)	NC_000023.10:g.47435625G>A	(Likely) benign	1 lab	d907de9810
13:113980125 GRTP1 C>A	13	113980125	113980125	C	A	GRTP1	c.772G>T	NM_001286732.1	NP_001273661.1:p.(Gly258Cys)	NC_000013.10:g.113980125C>A	VUS	1 lab	d907ea3083
16:72822368 ZFHX3 T>C	16	72822368	72822368	T	C	ZFHX3	c.9807A>G	NM_006885.3	NP_008816.3:p.(Ala3269=)	NC_000016.9:g.72822368T>C	(Likely) benign	1 lab	d9083149b3
1:158224517 CD1A G>A	1	158224517	158224517	G	A	CD1A	c.58G>A	NM_001763.3	NP_001754.2:p.(Gly20Arg)	NC_000001.10:g.158224517G>A	VUS	1 lab	d90a4917e4
22:38136941 TRIOBP C>T	22	38136941	38136941	C	T	TRIOBP	c.5224C>T	NM_001039141.2	NP_001034230.1:p.(Leu1742Phe)	NC_000022.10:g.38136941C>T	(Likely) benign	1 lab	d90ab0a249
17:29683563 NF1 C>A	17	29683563	29683563	C	A	NF1	c.7638C>A	NM_000267.3	NP_000258.1:p.(Pro2546=)	NC_000017.10:g.29683563C>A	(Likely) benign	1 lab	d90adbcabf
18:47753887 CFAP53 C>T	18	47753887	47753887	C	T	CFAP53	c.1409G>A	NM_145020.4	NP_659457.2:p.(Arg470His)	NC_000018.9:g.47753887C>T	VUS	1 lab	d90c1b0423
9:139329322 INPP5E C>T	9	139329322	139329322	C	T	INPP5E	c.813-7G>A	NM_019892.5	NP_063945.2:p.?	NC_000009.11:g.139329322C>T	(Likely) benign	1 lab	d90db33873
14:58965644 KIAA0586 T>C	14	58965644	58965644	T	C	KIAA0586	c.4134T>C	NM_001329943.2	NP_001316872.1:p.(Pro1378=)	NC_000014.8:g.58965644T>C	(Likely) benign	1 lab	d90dec8db7
3:184045222 EIF4G1 G>A	3	184045222	184045222	G	A	EIF4G1	c.3650G>A	NM_182917.4	NP_886553.3:p.(Arg1217His)	NC_000003.11:g.184045222G>A	(Likely) benign	1 lab	d90fb4d6c4
10:128192622 C10orf90 C>G	10	128192622	128192622	C	G	C10orf90	c.1438G>C	NM_001350921.1	NP_001337850.1:p.(Val480Leu)	NC_000010.10:g.128192622C>G	VUS	1 lab	d90ffbeb97
1:17664563 PADI4 G>A	1	17664563	17664563	G	A	PADI4	c.439G>A	NM_012387.2	NP_036519.2:p.(Gly147Ser)	NC_000001.10:g.17664563G>A	VUS	1 lab	d9113324ed
8:28575185 EXTL3 C>T	8	28575185	28575185	C	T	EXTL3	c.1609C>T	NM_001440.3	NP_001431.1:p.(Arg537Cys)	NC_000008.10:g.28575185C>T	VUS	1 lab	d91148e593
21:27372473 APP G>A	21	27372473	27372473	G	A	APP	c.890C>T	NM_000484.3	NP_000475.1:p.(Thr297Met)	NC_000021.8:g.27372473G>A	VUS	1 lab	d9117c4aa9
7:75959469 YWHAG G>A	7	75959469	75959469	G	A	YWHAG	c.169C>T	NM_012479.4	NP_036611.2:p.(Arg57Cys)	NC_000007.13:g.75959469G>A	(Likely) pathogenic	1 lab	d9117db232
X:53222221 KDM5C C>T	X	53222221	53222221	C	T	KDM5C	c.4611G>A	NM_004187.3	NP_004178.2:p.(Ser1537=)	NC_000023.10:g.53222221C>T	(Likely) benign	1 lab	d911832e3d
9:35801765 NPR2 G>A	9	35801765	35801765	G	A	NPR2	c.1557+5G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35801765G>A	VUS	1 lab	047d647395
12:125467107 DHX37 A>G	12	125467107	125467107	A	G	DHX37	c.339T>C	NM_032656.4	NP_116045.2:p.(Phe113=)	NC_000012.11:g.125467107A>G	(Likely) benign	1 lab	d91323d833
15:55972820 PRTG T>TCCTTC	15	55972820	55972825	T	TCCTTC	PRTG	c.682_683insGAAGG	NM_173814.6	NP_776175.2:p.(Glu228GlyfsTer13)	NC_000015.9:g.55972824_55972825insCCCTT	VUS	1 lab	d91410499e
19:9087262 MUC16 T>C	19	9087262	9087262	T	C	MUC16	c.4553A>G	NM_024690.2	NP_078966.2:p.(Asp1518Gly)	NC_000019.9:g.9087262T>C	VUS	1 lab	d914404931
16:88501296 ZNF469 C>T	16	88501296	88501296	C	T	ZNF469				NC_000016.9:g.88501296C>T	VUS	1 lab	d914b99295
6:51917940 PKHD1 G>A	6	51917940	51917940	G	A	PKHD1	c.2074C>T	NM_138694.3	NP_619639.3:p.(Pro692Ser)	NC_000006.11:g.51917940G>A	(Likely) benign	1 lab	d9152bc75b
16:57937719 CNGB1 A>G	16	57937719	57937719	A	G	CNGB1	c.2794+7T>C	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57937719A>G	(Likely) benign	1 lab	d915ce96d8
X:55033505 APEX2 G>T	X	55033505	55033505	G	T	APEX2	c.1194G>T	NM_014481.3	NP_055296.2:p.(Gln398His)	NC_000023.10:g.55033505G>T	VUS	1 lab	d9168ae0be
15:89858592 FANCI G>A	15	89858592	89858592	G	A	FANCI	c.3896G>A	NM_001113378.1	NP_001106849.1:p.(Arg1299Gln)	NC_000015.9:g.89858592G>A	(Likely) benign	1 lab	d918133baa
17:78184671 SGSH G>A	17	78184671	78184671	G	A	SGSH	c.1089C>T	NM_000199.4	NP_000190.1:p.(Gly363=)	NC_000017.10:g.78184671G>A	(Likely) benign	1 lab	d9183accb2
2:179549462 TTN T>C	2	179549462	179549462	T	C	TTN	c.32569A>G	NM_001267550.1	NP_001254479.1:p.(Lys10857Glu)	NC_000002.11:g.179549462T>C	VUS	1 lab	d91919981a
18:6948418 LAMA1 G>A	18	6948418	6948418	G	A	LAMA1	c.8694C>T	NM_005559.3	NP_005550.2:p.(Ser2898=)	NC_000018.9:g.6948418G>A	(Likely) benign	1 lab	d91a976d50
9:133759638 ABL1 C>A	9	133759638	133759638	C	A	ABL1	c.2018C>A	NM_007313.2	NP_009297.2:p.(Ala673Asp)	NC_000009.11:g.133759638C>A	(Likely) benign	1 lab	d91addca6e
9:6604632 GLDC T>C	9	6604632	6604632	T	C	GLDC	c.1014A>G	NM_000170.2	NP_000161.2:p.(Glu338=)	NC_000009.11:g.6604632T>C	(Likely) benign	1 lab	d91af8e1d8
8:7834805 USP17L3 G>A	8	7834805	7834805	G	A	USP17L3	c.703C>T	NM_001256871.1	NP_001243800.1:p.(Gln235Ter)	NC_000008.10:g.7834805G>A	(Likely) benign	1 lab	d91afb855d
17:29664602 NF1 T>A	17	29664602	29664602	T	A	NF1	c.6579+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29664602T>A	(Likely) pathogenic	1 lab	d91b330a8e
1:159504902 OR10J5 G>T	1	159504902	159504902	G	T	OR10J5	c.896C>A	NM_001004469.1	NP_001004469.1:p.(Ala299Asp)	NC_000001.10:g.159504902G>T	VUS	1 lab	d91b7f6b79
2:43452516 ZFP36L2 C>A	2	43452516	43452516	C	A	ZFP36L2	c.427G>T	NM_006887.5	NP_008818.3:p.(Gly143Trp)	NC_000002.11:g.43452516C>A	(Likely) benign	1 lab	d91ed1723c
3:123366284 MYLK A>G	3	123366284	123366284	A	G	MYLK	c.4416-10T>C	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123366284A>G	(Likely) benign	1 lab	d91ede4ae4
14:90455282 TDP1 G>A	14	90455282	90455282	G	A	TDP1	c.1165G>A	NM_018319.3	NP_060789.2:p.(Ala389Thr)	NC_000014.8:g.90455282G>A	(Likely) benign	1 lab	d91f8a00d2
3:189838499 P3H2 G>A	3	189838499	189838499	G	A	P3H2	c.22C>T	NM_018192.4	NP_060662.2:p.(Pro8Ser)	NC_000003.11:g.189838499G>A	(Likely) benign	1 lab	d92110907e
17:76502807 DNAH17 C>T	17	76502807	76502807	C	T	DNAH17	c.4798G>A	NM_173628.3	NP_775899.3:p.(Val1600Met)	NC_000017.10:g.76502807C>T	VUS	1 lab	d9217a4c65
6:157099865 ARID1B TCCGCCTCCG>T	6	157099865	157099879	TCCGCCTCCG	T	ARID1B	c.1057_1065del	NM_001374828.1	NP_001361757.1:p.(Ser353_Ala355del)	NC_000006.11:g.157099871_157099879del	VUS	1 lab	d921de4aae
6:117803958 DCBLD1 C>G	6	117803958	117803958	C	G	DCBLD1	c.14C>G	NM_173674.2	NP_775945.1:p.(Ala5Gly)	NC_000006.11:g.117803958C>G	(Likely) benign	1 lab	d923d99d5a
8:26505310 DPYSL2 C>G	8	26505310	26505310	C	G	DPYSL2	c.1590C>G	NM_001197293.3	NP_001184222.1:p.(His530Gln)	NC_000008.10:g.26505310C>G	VUS	1 lab	d9250c61f2
10:29776191 SVIL T>C	10	29776191	29776191	T	C	SVIL	c.4386A>G	NM_021738.2	NP_068506.2:p.(Arg1462=)	NC_000010.10:g.29776191T>C	(Likely) benign	1 lab	d92892d6fb
6:112508769 LAMA4 TG>GT	6	112508769	112508770	TG	GT	LAMA4	c.848_849=	NM_001105206.2	NP_001098676.2:p.(Asp283=)	NC_000006.11:g.112508769_112508770delinsGT	(Likely) benign	1 lab	d92988cb2c
11:118083279 JAML A>G	11	118083279	118083279	A	G	JAML	c.14-3T>C	NM_153206.2	NP_694938.2:p.?	NC_000011.9:g.118083279A>G	(Likely) benign	1 lab	d9298f3846
19:1005303 GRIN3B C>T	19	1005303	1005303	C	T	GRIN3B	c.1803C>T	NM_138690.2	NP_619635.1:p.(Tyr601=)	NC_000019.9:g.1005303C>T	(Likely) benign	1 lab	d929a9ee64
14:94848849 SERPINA1 G>GGA	14	94848849	94848854	G	GGA	SERPINA1	c.646+78_646+79dup	NM_000295.4	NP_000286.3:p.?	NC_000014.8:g.94848853_94848854dup	(Likely) benign	1 lab	d92ae1d220
2:217006039 XRCC5 T>C	2	217006039	217006039	T	C	XRCC5	c.1473T>C	NM_021141.3	NP_066964.1:p.(Phe491=)	NC_000002.11:g.217006039T>C	(Likely) benign	1 lab	d92d665af5
X:13769414 OFD1 C>T	X	13769414	13769414	C	T	OFD1	c.982C>T	NM_003611.2	NP_003602.1:p.(Leu328Phe)	NC_000023.10:g.13769414C>T	VUS	1 lab	d92f003ba5
X:9859055 SHROOM2 C>A	X	9859055	9859055	C	A	SHROOM2	c.356C>A	NM_001649.3	NP_001640.1:p.(Ala119Asp)	NC_000023.10:g.9859055C>A	(Likely) benign	1 lab	d9325a5284
17:6338339 AIPL1 G>T	17	6338339	6338339	G	T	AIPL1	c.86C>A	NM_014336.4	NP_055151.3:p.(Thr29Asn)	NC_000017.10:g.6338339G>T	(Likely) benign	1 lab	d9332320db
16:2135074 TSC2 G>A	16	2135074	2135074	G	A	TSC2	c.4569+47G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135074G>A	(Likely) benign	1 lab	d93349a026
11:121323241 SORL1 G>C	11	121323241	121323241	G	C	SORL1	c.201G>C	NM_003105.5	NP_003096.1:p.(Arg67Ser)	NC_000011.9:g.121323241G>C	(Likely) benign	1 lab	d93593fe7e
6:25661825 SCGN A>G	6	25661825	25661825	A	G	SCGN	c.199A>G	NM_006998.4	NP_008929.2:p.(Met67Val)	NC_000006.11:g.25661825A>G	(Likely) benign	1 lab	d935af8ba5
11:69625408 FGF3 ACGTATTATAGCCCAGCT>A	11	69625408	69625428	ACGTATTATAGCCCAGCT	A	FGF3	c.368_384del	NM_005247.4	NP_005238.1:p.(Glu123ValfsTer11)	NC_000011.9:g.69625412_69625428del	(Likely) pathogenic	1 lab	d935b31bd2
X:153209583 RENBP G>A	X	153209583	153209583	G	A	RENBP	c.162C>T	NM_002910.5	NP_002901.2:p.(Arg54=)	NC_000023.10:g.153209583G>A	(Likely) benign	1 lab	d93676806d
X:73812653 RLIM T>C	X	73812653	73812653	T	C	RLIM	c.497A>G	NM_183353.2	NP_899196.1:p.(Glu166Gly)	NC_000023.10:g.73812653T>C	VUS	1 lab	d9392f9f72
9:137726875 COL5A1 G>A	9	137726875	137726875	G	A	COL5A1	c.5195G>A	NM_000093.4	NP_000084.3:p.(Arg1732Gln)	NC_000009.11:g.137726875G>A	VUS	1 lab	d939330155
7:75614482 POR C>T	7	75614482	75614482	C	T	POR	c.1355C>T	NM_000941.2	NP_000932.3:p.(Pro452Leu)	NC_000007.13:g.75614482C>T	VUS	1 lab	d9396a3634
7:81620569 CACNA2D1 AG>A	7	81620569	81620570	AG	A	CACNA2D1	c.1735-8del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81620570del	(Likely) pathogenic	1 lab	d93a722f9c
X:47106747 USP11 C>T	X	47106747	47106747	C	T	USP11	c.2594C>T	NM_004651.3	NP_004642.2:p.(Ser865Leu)	NC_000023.10:g.47106747C>T	(Likely) benign	1 lab	d93b34fa7f
5:128797042 ADAMTS19 G>A	5	128797042	128797042	G	A	ADAMTS19	c.339G>A	NM_133638.4	NP_598377.4:p.(Pro113=)	NC_000005.9:g.128797042G>A	(Likely) benign	1 lab	d93b95e0a3
3:38357152 SLC22A14 T>C	3	38357152	38357152	T	C	SLC22A14	c.1482T>C	NM_004803.4	NP_004794.2:p.(Thr494=)	NC_000003.11:g.38357152T>C	(Likely) benign	1 lab	d93bb577ae
11:118960701 HMBS C>T	11	118960701	118960701	C	T	HMBS	c.346C>T	NM_000190.4	NP_000181.2:p.(Arg116Trp)	NC_000011.9:g.118960701C>T	(Likely) pathogenic	1 lab	d93d6096fe
2:241706336 KIF1A G>A	2	241706336	241706336	G	A	KIF1A	c.1680C>T	NM_001244008.1	NP_001230937.1:p.(Ser560=)	NC_000002.11:g.241706336G>A	(Likely) benign	1 lab	d93f28f003
17:56296032 MKS1 G>A	17	56296032	56296032	G	A	MKS1	c.139C>T	NM_017777.3	NP_060247.2:p.(Leu47Phe)	NC_000017.10:g.56296032G>A	VUS	1 lab	d93fb78a13
16:1825639 EME2 C>T	16	1825639	1825639	C	T	EME2	c.733C>T	NM_001257370.1	NP_001244299.1:p.(Arg245Trp)	NC_000016.9:g.1825639C>T	VUS	1 lab	d942a35461
9:32984660 APTX G>A	9	32984660	32984660	G	A	APTX	c.739C>T	NM_001195249.1	NP_001182178.1:p.(Arg247Ter)	NC_000009.11:g.32984660G>A	(Likely) pathogenic	1 lab	d943b62aa4
4:5812748 EVC G>A	4	5812748	5812748	G	A	EVC	c.2963G>A	NM_153717.2	NP_714928.1:p.(Arg988Lys)	NC_000004.11:g.5812748G>A	(Likely) benign	1 lab	d943e09b16
10:97987199 BLNK G>C	10	97987199	97987199	G	C	BLNK	c.328C>G	NM_013314.3	NP_037446.1:p.(Pro110Ala)	NC_000010.10:g.97987199G>C	VUS	1 lab	d9446b02fc
5:149499072 PDGFRB C>T	5	149499072	149499072	C	T	PDGFRB	c.2756G>A	NM_002609.3	NP_002600.1:p.(Arg919Gln)	NC_000005.9:g.149499072C>T	VUS	1 lab	d944ba1220
8:100168814 VPS13B C>T	8	100168814	100168814	C	T	VPS13B	c.2051C>T	NM_017890.4	NP_060360.3:p.(Ser684Phe)	NC_000008.10:g.100168814C>T	VUS	1 lab	d945d9c68e
16:51171071 SALL1 G>T	16	51171071	51171071	G	T	SALL1	c.3636C>A	NM_001127892.1	NP_001121364.1:p.(Phe1212Leu)	NC_000016.9:g.51171071G>T	VUS	1 lab	d94669fc4a
2:163136595 IFIH1 T>C	2	163136595	163136595	T	C	IFIH1	c.1552A>G	NM_022168.4	NP_071451.2:p.(Ile518Val)	NC_000002.11:g.163136595T>C	VUS	1 lab	d946742d40
1:229568023 ACTA1 T>G	1	229568023	229568023	T	G	ACTA1	c.610A>C	NM_001100.3	NP_001091.1:p.(Thr204Pro)	NC_000001.10:g.229568023T>G	(Likely) pathogenic	1 lab	d946fdf101
18:43248391 SLC14A2 G>A	18	43248391	43248391	G	A	SLC14A2	c.1985G>A	NM_007163.3	NP_009094.3:p.(Gly662Asp)	NC_000018.9:g.43248391G>A	VUS	1 lab	d947a0faa6
1:19464551 UBR4 G>A	1	19464551	19464551	G	A	UBR4	c.8856C>T	NM_020765.2	NP_065816.2:p.(Ser2952=)	NC_000001.10:g.19464551G>A	(Likely) benign	1 lab	d947c55019
X:139038361 CXorf66 A>G	X	139038361	139038361	A	G	CXorf66	c.780T>C	NM_001013403.2	NP_001013421.1:p.(Ser260=)	NC_000023.10:g.139038361A>G	(Likely) benign	1 lab	d948c48f6b
7:82578925 PCLO T>C	7	82578925	82578925	T	C	PCLO	c.10979A>G	NM_033026.5	NP_149015.2:p.(Asp3660Gly)	NC_000007.13:g.82578925T>C	VUS	1 lab	d94974b9a3
19:45260601 BCL3 G>A	19	45260601	45260601	G	A	BCL3	c.742G>A	NM_005178.4	NP_005169.2:p.(Val248Met)	NC_000019.9:g.45260601G>A	VUS	1 lab	d949e3de86
21:40622731 BRWD1 G>A	21	40622731	40622731	G	A	BRWD1	c.2340C>T	NM_033656.3	NP_387505.1:p.(Leu780=)	NC_000021.8:g.40622731G>A	(Likely) benign	1 lab	d94a2735c3
17:29557277 NF1 G>A	17	29557277	29557277	G	A	NF1	c.2991-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557277G>A	(Likely) pathogenic	1 lab	d94a5c3ae2
2:45826746 SRBD1 T>C	2	45826746	45826746	T	C	SRBD1	c.490A>G	NM_018079.5	NP_060549.4:p.(Thr164Ala)	NC_000002.11:g.45826746T>C	(Likely) benign	1 lab	d94b2bcc53
4:79328875 FRAS1 C>A	4	79328875	79328875	C	A	FRAS1	c.4188C>A	NM_025074.7	NP_079350.5:p.(His1396Gln)	NC_000004.11:g.79328875C>A	VUS	1 lab	d94c1b7e78
15:51750732 DMXL2 G>A	15	51750732	51750732	G	A	DMXL2	c.8106C>T	NM_001174116.1	NP_001167587.1:p.(Ile2702=)	NC_000015.9:g.51750732G>A	(Likely) benign	1 lab	d94d2769ff
12:65152947 GNS A>AC	12	65152947	65152952	A	AC	GNS	c.109dup	NM_002076.3	NP_002067.1:p.(Val37GlyfsTer70)	NC_000012.11:g.65152952dup	(Likely) pathogenic	1 lab	d94d47ef2a
9:139886916 PAXX G>T	9	139886916	139886916	G	T	PAXX	c.21G>T	NM_183241.3	NP_899064.1:p.(Pro7=)	NC_000009.11:g.139886916G>T	(Likely) benign	1 lab	d94dc2e45e
17:17699952 RAI1 G>A	17	17699952	17699952	G	A	RAI1	c.3690G>A	NM_030665.3	NP_109590.3:p.(Ala1230=)	NC_000017.10:g.17699952G>A	(Likely) benign	1 lab	d94f694bfe
3:150690270 CLRN1 A>G	3	150690270	150690270	A	G	CLRN1	c.226T>C	NM_001256819.1	NP_001243748.1:p.(Leu76=)	NC_000003.11:g.150690270A>G	(Likely) benign	1 lab	d9537e6c09
2:240913012 NDUFA10 G>C	2	240913012	240913012	G	C	NDUFA10	c.1066C>G	NM_001322019.1	NP_001308948.1:p.(Arg356Gly)	NC_000002.11:g.240913012G>C	VUS	1 lab	d9554fd9d1
21:45528884 PWP2 C>T	21	45528884	45528884	C	T	PWP2	c.38C>T	NM_005049.3	NP_005040.2:p.(Thr13Met)	NC_000021.8:g.45528884C>T	VUS	1 lab	d958100f45
21:34924708 SON TATGATGTCAGCTTATGAACGCTCC>T	21	34924708	34924764	TATGATGTCAGCTTATGAACGCTCC	T	SON	c.3204_3227del	NM_138927.4	NP_620305.3:p.(Ala1069_Ser1076del)	NC_000021.8:g.34924741_34924764del	VUS	1 lab	d959ec52ce
6:76715070 IMPG1 T>C	6	76715070	76715070	T	C	IMPG1	c.1069A>G	NM_001563.3	NP_001554.2:p.(Arg357Gly)	NC_000006.11:g.76715070T>C	VUS	1 lab	d95c6ce5d9
19:9090795 MUC16 G>A	19	9090795	9090795	G	A	MUC16	c.1020C>T	NM_024690.2	NP_078966.2:p.(Ala340=)	NC_000019.9:g.9090795G>A	(Likely) benign	1 lab	d95cd3f33a
11:65487508 RNASEH2C C>G	11	65487508	65487508	C	G	RNASEH2C	c.468+8G>C	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487508C>G	(Likely) benign	1 lab	d95da0cc86
14:102918934 TECPR2 C>T	14	102918934	102918934	C	T	TECPR2	c.3610C>T	NM_014844.4	NP_055659.2:p.(His1204Tyr)	NC_000014.8:g.102918934C>T	VUS	1 lab	d95fccf87d
2:179436720 TTN G>A	2	179436720	179436720	G	A	TTN	c.74139C>T	NM_001267550.1	NP_001254479.1:p.(Val24713=)	NC_000002.11:g.179436720G>A	(Likely) benign	1 lab	d95fe86a63
21:47655341 MCM3AP C>CT	21	47655341	47655342	C	CT	MCM3AP	c.5785-2dup	NM_003906.4	NP_003897.2:p.?	NC_000021.8:g.47655342dup	VUS	1 lab	d9609fb872
2:31588938 XDH C>T	2	31588938	31588938	C	T	XDH	c.2360G>A	NM_000379.3	NP_000370.2:p.(Arg787Gln)	NC_000002.11:g.31588938C>T	VUS	1 lab	d961a242d4
3:27183054 NEK10 C>T	3	27183054	27183054	C	T	NEK10	c.3060G>A	NM_152534.4	NP_689747.3:p.(Val1020=)	NC_000003.11:g.27183054C>T	(Likely) benign	1 lab	d961e3a835
18:6870641 ARHGAP28 T>C	18	6870641	6870641	T	C	ARHGAP28	c.387T>C	NM_001010000.2	NP_001010000.1:p.(Phe129=)	NC_000018.9:g.6870641T>C	(Likely) benign	1 lab	d9643bd6c1
19:55247474 KIR3DL3 G>A	19	55247474	55247474	G	A	KIR3DL3	c.1144G>A	NM_153443.4	NP_703144.3:p.(Ala382Thr)	NC_000019.9:g.55247474G>A	(Likely) benign	1 lab	d965b93812
12:32138034 RESF1 T>C	12	32138034	32138034	T	C	RESF1	c.4145T>C	NM_018169.4	NP_060639.4:p.(Val1382Ala)	NC_000012.11:g.32138034T>C	(Likely) benign	1 lab	d966d9ed99
4:106196443 TET2 C>T	4	106196443	106196443	C	T	TET2	c.4776C>T	NM_001127208.2	NP_001120680.1:p.(Thr1592=)	NC_000004.11:g.106196443C>T	(Likely) benign	1 lab	d9671ad503
3:75715173 FRG2C C>T	3	75715173	75715173	C	T	FRG2C	c.830C>T	NM_001124759.3	NP_001118231.1:p.(Ala277Val)	NC_000003.11:g.75715173C>T	VUS	1 lab	d9673377a9
15:23890395 MAGEL2 G>C	15	23890395	23890395	G	C	MAGEL2	c.2495C>G	NM_019066.4	NP_061939.3:p.(Pro832Arg)	NC_000015.9:g.23890395G>C	(Likely) benign	1 lab	d96767ff9e
14:105408917 AHNAK2 T>C	14	105408917	105408917	T	C	AHNAK2	c.12871A>G	NM_138420.3	NP_612429.2:p.(Met4291Val)	NC_000014.8:g.105408917T>C	(Likely) benign	1 lab	d968714b84
11:35327640 SLC1A2 C>T	11	35327640	35327640	C	T	SLC1A2	c.711G>A	NM_004171.3	NP_004162.2:p.(Lys237=)	NC_000011.9:g.35327640C>T	(Likely) benign	1 lab	d969237ba9
X:48666692 HDAC6 C>T	X	48666692	48666692	C	T	HDAC6	c.765C>T	NM_001321226.1	NP_001308155.1:p.(His255=)	NC_000023.10:g.48666692C>T	(Likely) benign	1 lab	d96d7765ab
X:153284196 IRAK1 G>C	X	153284196	153284196	G	C	IRAK1	c.583C>G	NM_001569.3	NP_001560.2:p.(Pro195Ala)	NC_000023.10:g.153284196G>C	(Likely) benign	1 lab	d96dd4c092
9:137642462 COL5A1 C>T	9	137642462	137642462	C	T	COL5A1	c.1569C>T	NM_000093.4	NP_000084.3:p.(Pro523=)	NC_000009.11:g.137642462C>T	VUS	1 lab	d96ec90918
7:5567484 ACTB G>A	7	5567484	5567484	G	A	ACTB	c.1023C>T	NM_001101.3	NP_001092.1:p.(Ile341=)	NC_000007.13:g.5567484G>A	(Likely) benign	1 lab	d96f84ae8a
9:139698994 CCDC183 G>A	9	139698994	139698994	G	A	CCDC183	c.707G>A	NM_001039374.4	NP_001034463.4:p.(Arg236His)	NC_000009.11:g.139698994G>A	(Likely) benign	1 lab	d97044a533
1:2343940 PEX10 A>G	1	2343940	2343940	A	G	PEX10	c.2T>C	NM_153818.1	NP_722540.1:p.(Met1?)	NC_000001.10:g.2343940A>G	(Likely) pathogenic	1 lab	d97184e35a
20:57429749 GNAS C>T	20	57429749	57429749	C	T	GNAS	c.1429C>T	NM_080425.3	NP_536350.2:p.(Pro477Ser)	NC_000020.10:g.57429749C>T	(Likely) benign	1 lab	d97263c867
X:79286535 TBX22 C>T	X	79286535	79286535	C	T	TBX22	c.1488C>T	NM_001109878.1	NP_001103348.1:p.(Asp496=)	NC_000023.10:g.79286535C>T	(Likely) benign	1 lab	d972f236d5
X:100400129 CENPI A>C	X	100400129	100400129	A	C	CENPI	c.1642A>C	NM_006733.3	NP_006724.2:p.(Met548Leu)	NC_000023.10:g.100400129A>C	(Likely) benign	1 lab	d973f5e24d
1:1870363 CFAP74 C>G	1	1870363	1870363	C	G	CFAP74	c.2942G>C	NM_001304360.2	NP_001291289.1:p.(Cys981Ser)	NC_000001.10:g.1870363C>G	(Likely) benign	1 lab	d9751b47b5
4:128819637 PLK4 T>G	4	128819637	128819637	T	G	PLK4	c.2854T>G	NM_014264.4	NP_055079.3:p.(Leu952Val)	NC_000004.11:g.128819637T>G	VUS	1 lab	d9761a64a7
2:178483307 IFT70A G>A	2	178483307	178483307	G	A	IFT70A	c.123C>T	NM_152275.4	NP_689488.3:p.(Ser41=)	NC_000002.11:g.178483307G>A	(Likely) benign	1 lab	d97651bce1
12:121164829 ACADS C>T	12	121164829	121164829	C	T	ACADS	c.47C>T	NM_000017.3	NP_000008.1:p.(Ala16Val)	NC_000012.11:g.121164829C>T	(Likely) benign	1 lab	d97b08c156
13:32912899 BRCA2 CATAAG>C	13	32912899	32912905	CATAAG	C	BRCA2	c.4409_4413del	NM_000059.4	NP_000050.3:p.(Ile1470LysfsTer10)	NC_000013.10:g.32912901_32912905del	(Likely) pathogenic	1 lab	d97d94462d
9:133948214 LAMC3 G>C	9	133948214	133948214	G	C	LAMC3	c.3409G>C	NM_006059.3	NP_006050.3:p.(Ala1137Pro)	NC_000009.11:g.133948214G>C	(Likely) benign	1 lab	d97ddf3cd7
8:97243995 UQCRB G>A	8	97243995	97243995	G	A	UQCRB	c.258+7C>T	NM_001254752.1	NP_001241681.1:p.?	NC_000008.10:g.97243995G>A	(Likely) benign	1 lab	d97fde0d5f
19:55359362 KIR3DL2 T>C	19	55359362	55359362	T	C	KIR3DL2				NC_000019.9:g.55359362T>C	(Likely) benign	1 lab	d980448854
19:43763040 PSG9 G>T	19	43763040	43763040	G	T	PSG9	c.957C>A	NM_002784.5	NP_002775.3:p.(Leu319=)	NC_000019.9:g.43763040G>T	(Likely) benign	1 lab	d985534318
X:151336879 GABRA3 G>A	X	151336879	151336879	G	A	GABRA3	c.1300C>T	NM_000808.3	NP_000799.1:p.(Pro434Ser)	NC_000023.10:g.151336879G>A	(Likely) benign	1 lab	d9870da19e
14:60976501 SIX6 G>A	14	60976501	60976501	G	A	SIX6	c.385G>A	NM_007374.2	NP_031400.2:p.(Glu129Lys)	NC_000014.8:g.60976501G>A	VUS	1 lab	d98742eab7
X:1484128 IL3RA G>A	X	1484128	1484128	G	A	IL3RA	c.857G>A	NM_002183.3	NP_002174.1:p.(Ser286Asn)	NC_000023.10:g.1484128G>A	VUS	1 lab	d98841ff91
3:4842148 ITPR1 C>T	3	4842148	4842148	C	T	ITPR1	c.6926C>T	NM_001168272.1	NP_001161744.1:p.(Ala2309Val)	NC_000003.11:g.4842148C>T	VUS	1 lab	d9886a9929
5:149265825 PDE6A C>G	5	149265825	149265825	C	G	PDE6A	c.1838+3G>C	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149265825C>G	VUS	1 lab	d98975567a
15:83518476 HOMER2 G>A	15	83518476	83518476	G	A	HOMER2	c.1056C>T	NM_199330.2	NP_955362.1:p.(Thr352=)	NC_000015.9:g.83518476G>A	(Likely) benign	1 lab	d9897c8828
8:100108576 VPS13B C>T	8	100108576	100108576	C	T	VPS13B	c.328C>T	NM_017890.4	NP_060360.3:p.(Arg110Cys)	NC_000008.10:g.100108576C>T	VUS	1 lab	d98b388cab
3:124141800 KALRN G>A	3	124141800	124141800	G	A	KALRN	c.2678G>A	NM_001024660.4	NP_001019831.2:p.(Arg893His)	NC_000003.11:g.124141800G>A	(Likely) benign	1 lab	d98dc1e4ee
1:46658910 POMGNT1 G>A	1	46658910	46658910	G	A	POMGNT1	c.1111-23C>T	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46658910G>A	(Likely) benign	1 lab	d98f35bf53
12:49443705 KMT2D G>A	12	49443705	49443705	G	A	KMT2D	c.3666C>T	NM_003482.3	NP_003473.3:p.(Gly1222=)	NC_000012.11:g.49443705G>A	(Likely) benign	1 lab	d990cd88b6
17:4925675 KIF1C G>A	17	4925675	4925675	G	A	KIF1C	c.2299G>A	NM_006612.5	NP_006603.2:p.(Gly767Arg)	NC_000017.10:g.4925675G>A	VUS	1 lab	d9911ed6dc
11:17594758 OTOG C>T	11	17594758	17594758	C	T	OTOG	c.2250C>T	NM_001277269.1	NP_001264198.1:p.(Cys750=)	NC_000011.9:g.17594758C>T	(Likely) benign	1 lab	d9928400be
1:154246369 HAX1 G>A	1	154246369	154246369	G	A	HAX1	c.436G>A	NM_006118.3	NP_006109.2:p.(Glu146Lys)	NC_000001.10:g.154246369G>A	VUS	1 lab	d99355b8ce
14:88407876 GALC A>C	14	88407876	88407876	A	C	GALC	c.1697T>G	NM_000153.3	NP_000144.2:p.(Val566Gly)	NC_000014.8:g.88407876A>C	VUS	1 lab	d993af96b5
9:140057746 GRIN1 G>A	9	140057746	140057746	G	A	GRIN1	c.2297G>A	NM_007327.3	NP_015566.1:p.(Ser766Asn)	NC_000009.11:g.140057746G>A	(Likely) pathogenic	1 lab	d995961c5a
2:220080866 ABCB6 C>G	2	220080866	220080866	C	G	ABCB6	c.1007G>C	NM_005689.2	NP_005680.1:p.(Arg336Pro)	NC_000002.11:g.220080866C>G	VUS	1 lab	d996c44107
7:21599321 DNAH11 C>CCAGCT	7	21599321	21599322	C	CCAGCT	DNAH11	c.793_794insCAGCT	NM_001277115.1	NP_001264044.1:p.(Arg265ProfsTer5)	NC_000007.13:g.21599321_21599322insCAGCT	(Likely) pathogenic	1 lab	d9979c373f
18:43532617 EPG5 A>AGG	18	43532617	43532619	A	AGG	EPG5	c.1009-10_1009-9dup	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43532618_43532619dup	(Likely) benign	1 lab	d998324f5b
17:47696703 SPOP T>C	17	47696703	47696703	T	C	SPOP	c.245A>G	NM_001007226.1	NP_001007227.1:p.(Asp82Gly)	NC_000017.10:g.47696703T>C	VUS	1 lab	d999c7acbb
12:40917399 MUC19 A>G	12	40917399	40917399	A	G	MUC19	c.21274A>G	NM_173600.2	NP_775871.2:p.(Thr7092Ala)	NC_000012.11:g.40917399A>G	(Likely) benign	1 lab	d99a12fc2d
11:17633764 OTOG G>A	11	17633764	17633764	G	A	OTOG	c.6215G>A	NM_001277269.1	NP_001264198.1:p.(Arg2072His)	NC_000011.9:g.17633764G>A	VUS	1 lab	d99cd72879
10:100183511 HPS1 G>T	10	100183511	100183511	G	T	HPS1	c.559C>A	NM_001322487.1	NP_001309416.1:p.(Arg187=)	NC_000010.10:g.100183511G>T	(Likely) benign	1 lab	d99d896b64
7:99702906 AP4M1 C>T	7	99702906	99702906	C	T	AP4M1	c.771C>T	NM_004722.3	NP_004713.2:p.(Ser257=)	NC_000007.13:g.99702906C>T	(Likely) benign	1 lab	d99dcca7df
11:66460044 SPTBN2 GC>G	11	66460044	66460046	GC	G	SPTBN2	c.5152del	NM_006946.4	NP_008877.2:p.(Ala1718ProfsTer12)	NC_000011.9:g.66460046del	VUS	1 lab	d9a11a48cf
22:38109282 TRIOBP G>A	22	38109282	38109282	G	A	TRIOBP	c.320G>A	NM_001039141.2	NP_001034230.1:p.(Arg107Gln)	NC_000022.10:g.38109282G>A	(Likely) benign	1 lab	d9a122202b
8:38002797 STAR C>T	8	38002797	38002797	C	T	STAR	c.687G>A	NM_000349.2	NP_000340.2:p.(Pro229=)	NC_000008.10:g.38002797C>T	(Likely) benign	1 lab	d9a27eb4ad
6:73017011 RIMS1 C>T	6	73017011	73017011	C	T	RIMS1	c.3901C>T	NM_014989.5	NP_055804.2:p.(Arg1301Ter)	NC_000006.11:g.73017011C>T	VUS	1 lab	d9a2a16a3d
22:19163652 SLC25A1 C>T	22	19163652	19163652	C	T	SLC25A1	c.927G>A	NM_005984.4	NP_005975.1:p.(Lys309=)	NC_000022.10:g.19163652C>T	(Likely) benign	1 lab	d9a4407b84
17:29685583 NF1 CAG>C	17	29685583	29685587	CAG	C	NF1	c.8059_8060del	NM_001042492.3	NP_001035957.1:p.(Ser2687CysfsTer5)	NC_000017.10:g.29685586_29685587del	(Likely) pathogenic	1 lab	d9a4993446
X:53572078 HUWE1 G>A	X	53572078	53572078	G	A	HUWE1	c.10960C>T	NM_031407.6	NP_113584.3:p.(Arg3654Trp)	NC_000023.10:g.53572078G>A	VUS	1 lab	d9a5b8a86b
3:184042009 EIF4G1 A>G	3	184042009	184042009	A	G	EIF4G1	c.2496A>G	NM_182917.4	NP_886553.3:p.(Glu832=)	NC_000003.11:g.184042009A>G	(Likely) benign	1 lab	d9a65891fe
X:55030270 APEX2 G>A	X	55030270	55030270	G	A	APEX2	c.608G>A	NM_014481.3	NP_055296.2:p.(Arg203His)	NC_000023.10:g.55030270G>A	VUS	1 lab	d9a73a3f60
20:62319283 RTEL1 C>T	20	62319283	62319283	C	T	RTEL1	c.1482-7C>T	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62319283C>T	(Likely) benign	1 lab	d9a7e35c97
11:72012946 CLPB G>A	11	72012946	72012946	G	A	CLPB	c.1320C>T	NM_030813.6	NP_110440.1:p.(Thr440=)	NC_000011.9:g.72012946G>A	(Likely) benign	1 lab	d9a895db95
3:129308332 PLXND1 C>T	3	129308332	129308332	C	T	PLXND1	c.1350G>A	NM_015103.2	NP_055918.2:p.(Leu450=)	NC_000003.11:g.129308332C>T	(Likely) benign	1 lab	d9a8bf368f
20:62292731 RTEL1 A>T	20	62292731	62292731	A	T	RTEL1	c.183A>T	NM_001283009.1	NP_001269938.1:p.(Glu61Asp)	NC_000020.10:g.62292731A>T	(Likely) benign	1 lab	d9a9002343
22:38120253 TRIOBP A>G	22	38120253	38120253	A	G	TRIOBP	c.1690A>G	NM_001039141.2	NP_001034230.1:p.(Thr564Ala)	NC_000022.10:g.38120253A>G	(Likely) benign	1 lab	d9a93a41de
6:161969884 PRKN A>AC	6	161969884	161969888	A	AC	PRKN	c.1083+1dup	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.161969888dup	(Likely) pathogenic	1 lab	d9a9af9501
11:67765244 UNC93B1 G>A	11	67765244	67765244	G	A	UNC93B1	c.807C>T	NM_030930.2	NP_112192.2:p.(Ser269=)	NC_000011.9:g.67765244G>A	(Likely) benign	1 lab	d9aaf9386d
X:47488941 CFP C>T	X	47488941	47488941	C	T	CFP	c.209G>A	NM_002621.2	NP_002612.1:p.(Gly70Glu)	NC_000023.10:g.47488941C>T	VUS	1 lab	d9ac4fa739
X:106031165 RNF128 A>G	X	106031165	106031165	A	G	RNF128	c.822A>G	NM_194463.2	NP_919445.1:p.(Gly274=)	NC_000023.10:g.106031165A>G	(Likely) benign	1 lab	d9accfaee5
1:237819203 RYR2 C>T	1	237819203	237819203	C	T	RYR2	c.8048C>T	NM_001035.2	NP_001026.2:p.(Ser2683Leu)	NC_000001.10:g.237819203C>T	VUS	1 lab	d9ad4172aa
2:152506779 NEB G>A	2	152506779	152506779	G	A	NEB	c.7342C>T	NM_001271208.1	NP_001258137.1:p.(Arg2448Cys)	NC_000002.11:g.152506779G>A	VUS	1 lab	d9ad87a217
17:79428269 MISSING G>A	17	79428269	79428269	G	A	MISSING				NC_000017.10:g.79428269G>A	(Likely) benign	1 lab	d9aec67378
10:73498309 CDH23 T>A	10	73498309	73498309	T	A	CDH23	c.4264T>A	NM_022124.5	NP_071407.4:p.(Ser1422Thr)	NC_000010.10:g.73498309T>A	VUS	1 lab	d9af065a31
12:124968163 NCOR2 C>G	12	124968163	124968163	C	G	NCOR2	c.390G>C	NM_006312.5	NP_006303.4:p.(Ala130=)	NC_000012.11:g.124968163C>G	(Likely) benign	1 lab	d9b0b4a1a0
3:36893282 TRANK1 C>T	3	36893282	36893282	C	T	TRANK1	c.4815G>A	NM_001329998.1	NP_001316927.1:p.(Val1605=)	NC_000003.11:g.36893282C>T	(Likely) benign	1 lab	d9b1c37d50
19:50099539 PRR12 G>A	19	50099539	50099539	G	A	PRR12	c.1947G>A	NM_020719.2	NP_065770.1:p.(Ala649=)	NC_000019.9:g.50099539G>A	(Likely) benign	1 lab	d9b24cc012
6:72806808 RIMS1 T>C	6	72806808	72806808	T	C	RIMS1	c.402T>C	NM_014989.5	NP_055804.2:p.(Tyr134=)	NC_000006.11:g.72806808T>C	(Likely) benign	1 lab	d9b313c346
17:29553703 NF1 G>A	17	29553703	29553703	G	A	NF1	c.2251+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553703G>A	(Likely) pathogenic	1 lab	d9b34c97c4
2:198571416 MARS2 C>T	2	198571416	198571416	C	T	MARS2	c.1287C>T	NM_138395.3	NP_612404.1:p.(Phe429=)	NC_000002.11:g.198571416C>T	(Likely) benign	1 lab	d9b43ec8b8
20:60893569 LAMA5 C>T	20	60893569	60893569	C	T	LAMA5	c.7180G>A	NM_005560.4	NP_005551.3:p.(Ala2394Thr)	NC_000020.10:g.60893569C>T	(Likely) benign	1 lab	d9b4a42f0e
X:123615651 TENM1 G>C	X	123615651	123615651	G	C	TENM1	c.3880C>G	NM_001163278.1	NP_001156750.1:p.(Leu1294Val)	NC_000023.10:g.123615651G>C	VUS	1 lab	d9b4df5978
6:146480637 GRM1 G>A	6	146480637	146480637	G	A	GRM1	c.854G>A	NM_001278065.1	NP_001264994.1:p.(Arg285Lys)	NC_000006.11:g.146480637G>A	VUS	1 lab	d9b5228119
11:117267901 CEP164 C>A	11	117267901	117267901	C	A	CEP164	c.3373C>A	NM_014956.4	NP_055771.4:p.(Arg1125=)	NC_000011.9:g.117267901C>A	(Likely) benign	1 lab	d9b5792192
X:19433286 MAP3K15 T>C	X	19433286	19433286	T	C	MAP3K15	c.1529A>G	NM_001001671.3	NP_001001671.3:p.(Asn510Ser)	NC_000023.10:g.19433286T>C	VUS	1 lab	d9b7855eb6
X:69673651 DLG3 G>A	X	69673651	69673651	G	A	DLG3	c.1302+8G>A	NM_021120.3	NP_066943.2:p.?	NC_000023.10:g.69673651G>A	(Likely) benign	1 lab	d9b7bcb28a
20:30507673 TTLL9 C>T	20	30507673	30507673	C	T	TTLL9	c.511C>T	NM_001008409.3	NP_001008409.1:p.(Arg171Trp)	NC_000020.10:g.30507673C>T	VUS	1 lab	d9b7f272fe
19:50826995 KCNC3 G>A	19	50826995	50826995	G	A	KCNC3	c.1215C>T	NM_004977.2	NP_004968.2:p.(Ala405=)	NC_000019.9:g.50826995G>A	(Likely) benign	1 lab	d9b8f1d70e
2:179631277 TTN G>A	2	179631277	179631277	G	A	TTN	c.9534C>T	NM_001267550.1	NP_001254479.1:p.(His3178=)	NC_000002.11:g.179631277G>A	(Likely) benign	1 lab	d9b91f480c
19:1455424 APC2 G>A	19	1455424	1455424	G	A	APC2	c.564G>A	NM_005883.2	NP_005874.1:p.(Glu188=)	NC_000019.9:g.1455424G>A	(Likely) benign	1 lab	d9b941d85d
12:40745525 LRRK2 A>G	12	40745525	40745525	A	G	LRRK2	c.6566A>G	NM_198578.3	NP_940980.3:p.(Tyr2189Cys)	NC_000012.11:g.40745525A>G	VUS	1 lab	d9bc038924
X:44091831 EFHC2 C>T	X	44091831	44091831	C	T	EFHC2	c.1516G>A	NM_025184.3	NP_079460.2:p.(Glu506Lys)	NC_000023.10:g.44091831C>T	(Likely) benign	1 lab	d9bc72ce55
9:117165141 WHRN G>A	9	117165141	117165141	G	A	WHRN	c.2617C>T	NM_015404.3	NP_056219.3:p.(Arg873Trp)	NC_000009.11:g.117165141G>A	VUS	1 lab	d9bdaddf1a
6:159190925 EZR C>T	6	159190925	159190925	C	T	EZR	c.1142G>A	NM_003379.4	NP_003370.2:p.(Arg381Gln)	NC_000006.11:g.159190925C>T	(Likely) benign	1 lab	d9be2c33c0
22:51117802 MISSING G>T	22	51117802	51117802	G	T	MISSING				NC_000022.10:g.51117802G>T	(Likely) benign	1 lab	d9be9f7eb0
2:182542533 NEUROD1 G>T	2	182542533	182542533	G	T	NEUROD1	c.1055C>A	NM_002500.4	NP_002491.2:p.(Ala352Asp)	NC_000002.11:g.182542533G>T	VUS	1 lab	d9bf74a1b8
16:14698063 PARN GATAACTAT>G	16	14698063	14698074	GATAACTAT	G	PARN	c.715_722del	NM_002582.4	NP_002573.1:p.(Ile239GlnfsTer5)	NC_000016.9:g.14698067_14698074del	(Likely) pathogenic	1 lab	d9c3b23614
2:32475709 NLRC4 G>A	2	32475709	32475709	G	A	NLRC4	c.1224C>T	NM_021209.4	NP_067032.3:p.(Phe408=)	NC_000002.11:g.32475709G>A	(Likely) benign	1 lab	d9c7e68947
9:65505646 SPATA31A7 G>A	9	65505646	65505646	G	A	SPATA31A7	c.1914C>T	NM_015667.2	NP_056482.2:p.(Gly638=)	NC_000009.11:g.65505646G>A	VUS	1 lab	d9c80de046
19:52147038 SIGLEC14 C>A	19	52147038	52147038	C	A	SIGLEC14	c.1006G>T	NM_001098612.1	NP_001092082.1:p.(Val336Leu)	NC_000019.9:g.52147038C>A	(Likely) benign	1 lab	d9ca1aa00b
X:78010566 LPAR4 G>A	X	78010566	78010566	G	A	LPAR4	c.200G>A	NM_005296.2	NP_005287.1:p.(Arg67His)	NC_000023.10:g.78010566G>A	(Likely) benign	1 lab	d9cb3d0cb3
1:1267608 TAS1R3 C>T	1	1267608	1267608	C	T	TAS1R3	c.697C>T	NM_152228.3	NP_689414.2:p.(Arg233Cys)	NC_000001.10:g.1267608C>T	VUS	1 lab	d9ccf041c9
7:83023654 SEMA3E C>T	7	83023654	83023654	C	T	SEMA3E	c.1459G>A	NM_012431.3	NP_036563.1:p.(Asp487Asn)	NC_000007.13:g.83023654C>T	VUS	1 lab	d9ce4ad442
2:44200769 LRPPRC C>A	2	44200769	44200769	C	A	LRPPRC	c.1346G>T	NM_133259.3	NP_573566.2:p.(Arg449Leu)	NC_000002.11:g.44200769C>A	(Likely) benign	1 lab	d9d14e26a3
14:100381050 EML1 A>G	14	100381050	100381050	A	G	EML1	c.1809+16A>G	NM_001008707.1	NP_001008707.1:p.?	NC_000014.8:g.100381050A>G	(Likely) benign	1 lab	d9d1b6024d
1:120468362 NOTCH2 G>A	1	120468362	120468362	G	A	NOTCH2	c.4077C>T	NM_024408.3	NP_077719.2:p.(His1359=)	NC_000001.10:g.120468362G>A	(Likely) benign	1 lab	d9d2c11787
18:67872863 RTTN C>A	18	67872863	67872863	C	A	RTTN	c.31+1G>T	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67872863C>A	(Likely) pathogenic	1 lab	d9d65dfc56
14:24634173 IRF9 G>A	14	24634173	24634173	G	A	IRF9	c.991+9G>A	NM_006084.4	NP_006075.3:p.?	NC_000014.8:g.24634173G>A	(Likely) benign	1 lab	d9da77a055
6:33052832 HLA-DPB1 G>A	6	33052832	33052832	G	A	HLA-DPB1	c.470G>A	NM_002121.5	NP_002112.3:p.(Arg157Gln)	NC_000006.11:g.33052832G>A	(Likely) benign	1 lab	d9dbfd7f65
9:77416900 TRPM6 C>T	9	77416900	77416900	C	T	TRPM6	c.1923G>A	NM_017662.4	NP_060132.3:p.(Ala641=)	NC_000009.11:g.77416900C>T	(Likely) benign	1 lab	d9ddf86d43
4:2701799 FAM193A C>T	4	2701799	2701799	C	T	FAM193A	c.3027C>T	NM_001256666.1	NP_001243595.1:p.(Val1009=)	NC_000004.11:g.2701799C>T	(Likely) benign	1 lab	d9de5df2e5
9:36840544 PAX5 C>T	9	36840544	36840544	C	T	PAX5	c.957G>A	NM_001280549.1	NP_001267478.1:p.(Gln319=)	NC_000009.11:g.36840544C>T	(Likely) benign	1 lab	d9df2b0d83
8:10469041 RP1L1 G>A	8	10469041	10469041	G	A	RP1L1	c.2567C>T	NM_178857.5	NP_849188.4:p.(Pro856Leu)	NC_000008.10:g.10469041G>A	VUS	1 lab	d9e0463bdd
17:29508439 NF1 GA>G	17	29508439	29508442	GA	G	NF1	c.589del	NM_001042492.3	NP_001035957.1:p.(Thr197GlnfsTer8)	NC_000017.10:g.29508442del	(Likely) pathogenic	1 lab	d9e132c0bf
X:31747859 DMD T>C	X	31747859	31747859	T	C	DMD	c.7180A>G	NM_004010.3	NP_004001.1:p.(Met2394Val)	NC_000023.10:g.31747859T>C	VUS	1 lab	d9e166ac2c
12:103232983 PAH G>T	12	103232983	103232983	G	T	PAH	c.1329C>A	NM_001354304.1	NP_001341233.1:p.(Ile443=)	NC_000012.11:g.103232983G>T	(Likely) benign	1 lab	d9e20a6568
12:5860057 ANO2 T>A	12	5860057	5860057	T	A	ANO2	c.1126A>T	NM_001278597.3	NP_001265526.1:p.(Ile376Phe)	NC_000012.11:g.5860057T>A	VUS	1 lab	d9e22bd49b
15:100533312 ADAMTS17 C>T	15	100533312	100533312	C	T	ADAMTS17	c.2890G>A	NM_139057.3	NP_620688.2:p.(Glu964Lys)	NC_000015.9:g.100533312C>T	VUS	1 lab	d9e239d903
X:47104243 USP11 G>A	X	47104243	47104243	G	A	USP11	c.2135G>A	NM_004651.3	NP_004642.2:p.(Arg712Gln)	NC_000023.10:g.47104243G>A	VUS	1 lab	d9e308e502
19:2878286 ZNF556 G>GT	19	2878286	2878287	G	GT	ZNF556	c.1331dup	NM_024967.3	NP_079243.1:p.(Arg445GlufsTer12)	NC_000019.9:g.2878287dup	VUS	1 lab	d9e5b7d274
11:65315427 LTBP3 C>T	11	65315427	65315427	C	T	LTBP3	c.1810G>A	NM_001130144.2	NP_001123616.1:p.(Gly604Ser)	NC_000011.9:g.65315427C>T	VUS	1 lab	d9e62223c5
1:181685205 MISSING C>T	1	181685205	181685205	C	T	MISSING				NC_000001.10:g.181685205C>T	VUS	1 lab	d9e79f308f
11:89819577 UBTFL1 C>T	11	89819577	89819577	C	T	UBTFL1	c.460C>T	NM_001143975.1	NP_001137447.1:p.(Arg154Trp)	NC_000011.9:g.89819577C>T	VUS	1 lab	d9e85e95b5
X:50659219 BMP15 G>A	X	50659219	50659219	G	A	BMP15	c.791G>A	NM_005448.2	NP_005439.2:p.(Arg264Gln)	NC_000023.10:g.50659219G>A	(Likely) benign	1 lab	d9e9b8ca5e
9:18928669 SAXO1 C>T	9	18928669	18928669	C	T	SAXO1	c.806G>A	NM_153707.4	NP_714918.2:p.(Cys269Tyr)	NC_000009.11:g.18928669C>T	(Likely) benign	1 lab	d9ecc4b658
22:51065976 ARSA C>T	22	51065976	51065976	C	T	ARSA	c.224+8G>A	NM_000487.5	NP_000478.3:p.?	NC_000022.10:g.51065976C>T	(Likely) benign	1 lab	d9f04c5a5f
9:131395550 SPTAN1 G>T	9	131395550	131395550	G	T	SPTAN1	c.7434G>T	NM_001363759.1	NP_001350688.1:p.(Lys2478Asn)	NC_000009.11:g.131395550G>T	VUS	1 lab	d9f1f871e7
X:13734780 TRAPPC2 C>T	X	13734780	13734780	C	T	TRAPPC2	c.111G>A	NM_001011658.3	NP_001011658.1:p.(Leu37=)	NC_000023.10:g.13734780C>T	(Likely) benign	1 lab	d9f30986ec
12:100751192 SLC17A8 C>T	12	100751192	100751192	C	T	SLC17A8	c.23C>T	NM_139319.2	NP_647480.1:p.(Thr8Ile)	NC_000012.11:g.100751192C>T	(Likely) benign	1 lab	d9f5e296ac
3:58196627 DNASE1L3 G>A	3	58196627	58196627	G	A	DNASE1L3	c.7C>T	NM_004944.3	NP_004935.1:p.(Arg3Trp)	NC_000003.11:g.58196627G>A	(Likely) benign	1 lab	d9f61e0788
X:151123435 GABRE C>T	X	151123435	151123435	C	T	GABRE	c.1259G>A	NM_004961.3	NP_004952.2:p.(Arg420His)	NC_000023.10:g.151123435C>T	(Likely) benign	1 lab	d9f6481165
18:21141484 NPC1 G>A	18	21141484	21141484	G	A	NPC1	c.471C>T	NM_000271.4	NP_000262.2:p.(Tyr157=)	NC_000018.9:g.21141484G>A	(Likely) benign	1 lab	d9f7813cdd
6:145103122 UTRN C>G	6	145103122	145103122	C	G	UTRN	c.8697C>G	NM_007124.2	NP_009055.2:p.(Asp2899Glu)	NC_000006.11:g.145103122C>G	VUS	1 lab	d9f7c9cebc
19:44278391 KCNN4 C>T	19	44278391	44278391	C	T	KCNN4	c.636G>A	NM_002250.3	NP_002241.1:p.(Thr212=)	NC_000019.9:g.44278391C>T	(Likely) benign	1 lab	d9fb3f7c7d
9:140772669 CACNA1B CATA>C	9	140772669	140772672	CATA	C	CACNA1B	c.284+1_284+3del	NM_000718.4	NP_000709.1:p.?	NC_000009.11:g.140772670_140772672del	(Likely) benign	1 lab	d9fbfbde97
1:145536881 ITGA10 C>A	1	145536881	145536881	C	A	ITGA10	c.2261C>A	NM_003637.5	NP_003628.2:p.(Ala754Asp)	NC_000001.10:g.145536881C>A	VUS	1 lab	d9ffed66d2
9:36246040 GNE G>A	9	36246040	36246040	G	A	GNE	c.604C>T	NM_005476.6	NP_005467.1:p.(Arg202Cys)	NC_000009.11:g.36246040G>A	VUS	1 lab	da005c17e2
19:18280055 PIK3R2 C>T	19	18280055	18280055	C	T	PIK3R2	c.2138C>T	NM_005027.3	NP_005018.1:p.(Ala713Val)	NC_000019.9:g.18280055C>T	VUS	1 lab	da007e8924
17:19566759 ALDH3A2 A>G	17	19566759	19566759	A	G	ALDH3A2	c.1054A>G	NM_001031806.1	NP_001026976.1:p.(Ile352Val)	NC_000017.10:g.19566759A>G	VUS	1 lab	da04f7eb6f
2:179440449 TTN G>GTAGTT	2	179440449	179440455	G	GTAGTT	TTN	c.70405_70409dup	NM_001267550.1	NP_001254479.1:p.(Tyr23470Ter)	NC_000002.11:g.179440451_179440455dup	(Likely) pathogenic	1 lab	da06102e1e
19:6713216 C3 G>A	19	6713216	6713216	G	A	C3	c.987C>T	NM_000064.2	NP_000055.2:p.(Thr329=)	NC_000019.9:g.6713216G>A	(Likely) benign	1 lab	da07834312
11:66283057 BBS1 G>A	11	66283057	66283057	G	A	BBS1	c.479G>A	NM_024649.4	NP_078925.3:p.(Arg160Gln)	NC_000011.9:g.66283057G>A	(Likely) pathogenic	1 lab	da07c23b10
8:145641591 SLC39A4 A>C	8	145641591	145641591	A	C	SLC39A4	c.2T>G	NM_017767.2	NP_060237.2:p.(Met1?)	NC_000008.10:g.145641591A>C	VUS	1 lab	da083a78a1
X:66765531 AR T>TA	X	66765531	66765534	T	TA	AR	c.546dup	NM_000044.4	NP_000035.2:p.(Asp183ArgfsTer52)	NC_000023.10:g.66765534dup	(Likely) pathogenic	1 lab	da083cba2e
X:44921989 KDM6A A>G	X	44921989	44921989	A	G	KDM6A	c.1679A>G	NM_001291415.1	NP_001278344.1:p.(His560Arg)	NC_000023.10:g.44921989A>G	(Likely) benign	1 lab	da0868e285
22:26422533 MYO18B G>A	22	26422533	26422533	G	A	MYO18B	c.6596G>A	NM_001318245.1	NP_001305174.1:p.(Arg2199His)	NC_000022.10:g.26422533G>A	(Likely) benign	1 lab	da0a19798b
11:64428548 NRXN2 T>C	11	64428548	64428548	T	C	NRXN2	c.1862A>G	NM_015080.3	NP_055895.1:p.(Asp621Gly)	NC_000011.9:g.64428548T>C	VUS	1 lab	da0bd0c5bc
17:73512935 TSEN54 G>C	17	73512935	73512935	G	C	TSEN54	c.165G>C	NM_207346.2	NP_997229.2:p.(Leu55=)	NC_000017.10:g.73512935G>C	(Likely) benign	1 lab	da0ccfb9da
17:39503421 KRT33A G>A	17	39503421	39503421	G	A	KRT33A	c.642C>T	NM_004138.3	NP_004129.2:p.(Asp214=)	NC_000017.10:g.39503421G>A	(Likely) benign	1 lab	da0cddb38a
15:45564582 SLC28A2 T>C	15	45564582	45564582	T	C	SLC28A2	c.1738T>C	NM_004212.4	NP_004203.2:p.(Cys580Arg)	NC_000015.9:g.45564582T>C	VUS	1 lab	da0d05c779
13:32929062 BRCA2 T>C	13	32929062	32929062	T	C	BRCA2	c.7072T>C	NM_000059.3	NP_000050.2:p.(Ser2358Pro)	NC_000013.10:g.32929062T>C	(Likely) benign	1 lab	da0ef67825
X:79959030 BRWD3 G>T	X	79959030	79959030	G	T	BRWD3	c.2784C>A	NM_153252.4	NP_694984.4:p.(Ile928=)	NC_000023.10:g.79959030G>T	(Likely) benign	1 lab	da101b87c4
1:5964865 NPHP4 C>T	1	5964865	5964865	C	T	NPHP4	c.1956-1G>A	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.5964865C>T	(Likely) pathogenic	1 lab	da10700d85
5:90445930 ADGRV1 T>C	5	90445930	90445930	T	C	ADGRV1	c.18516T>C	NM_032119.4	NP_115495.3:p.(Asn6172=)	NC_000005.9:g.90445930T>C	(Likely) benign	1 lab	da1103b6c0
21:44474004 CBS G>A	21	44474004	44474004	G	A	CBS	c.1642C>T	NM_000071.2	NP_000062.1:p.(Arg548Trp)	NC_000021.8:g.44474004G>A	VUS	1 lab	da127c9ffc
13:39454874 FREM2 G>A	13	39454874	39454874	G	A	FREM2	c.9460G>A	NM_207361.5	NP_997244.4:p.(Glu3154Lys)	NC_000013.10:g.39454874G>A	VUS	1 lab	da12dca866
X:148038047 AFF2 C>T	X	148038047	148038047	C	T	AFF2	c.2472C>T	NM_002025.3	NP_002016.2:p.(Ala824=)	NC_000023.10:g.148038047C>T	(Likely) benign	1 lab	da13e09ee0
9:133962858 LAMC3 C>G	9	133962858	133962858	C	G	LAMC3	c.4231-5C>G	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133962858C>G	VUS	1 lab	da165ae41e
11:66024960 KLC2 G>A	11	66024960	66024960	G	A	KLC2	c.-49+1G>A	NM_001134775.1	NP_001128247.1:p.?	NC_000011.9:g.66024960G>A	VUS	1 lab	da1796dabc
1:205138372 DSTYK C>T	1	205138372	205138372	C	T	DSTYK	c.1243G>A	NM_015375.2	NP_056190.1:p.(Glu415Lys)	NC_000001.10:g.205138372C>T	VUS	1 lab	da180cb8dc
6:88299641 RARS2 T>C	6	88299641	88299641	T	C	RARS2	c.35A>G	NM_020320.4	NP_064716.2:p.(Gln12Arg)	NC_000006.11:g.88299641T>C	VUS	1 lab	da1868c265
18:76753735 SALL3 G>A	18	76753735	76753735	G	A	SALL3	c.1744G>A	NM_171999.3	NP_741996.2:p.(Glu582Lys)	NC_000018.9:g.76753735G>A	VUS	1 lab	da1d65e4b6
14:94849023 SERPINA1 G>C	14	94849023	94849023	G	C	SERPINA1	c.552C>G	NM_000295.4	NP_000286.3:p.(Tyr184Ter)	NC_000014.8:g.94849023G>C	(Likely) pathogenic	1 lab	da1d6a58ea
12:106466584 NUAK1 T>C	12	106466584	106466584	T	C	NUAK1	c.617A>G	NM_014840.2	NP_055655.1:p.(Asp206Gly)	NC_000012.11:g.106466584T>C	VUS	1 lab	da1f526f07
1:16459744 EPHA2 C>T	1	16459744	16459744	C	T	EPHA2	c.1984G>A	NM_004431.4	NP_004422.2:p.(Gly662Ser)	NC_000001.10:g.16459744C>T	(Likely) benign	1 lab	da1fb017ca
5:155756592 SGCD G>A	5	155756592	155756592	G	A	SGCD	c.3+3G>A	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.155756592G>A	(Likely) benign	1 lab	da20cff4f4
11:6652935 DCHS1 G>T	11	6652935	6652935	G	T	DCHS1				NC_000011.9:g.6652935G>T	VUS	1 lab	da21f1ce7d
20:2644637 IDH3B G>GAA	20	2644637	2644638	G	GAA	IDH3B	c.50_51insTT	NM_006899.4	NP_008830.2:p.(Gly18SerfsTer10)	NC_000020.10:g.2644637_2644638insAA	(Likely) pathogenic	1 lab	da220eebbe
X:8503776 ANOS1 G>A	X	8503776	8503776	G	A	ANOS1	c.1698C>T	NM_000216.3	NP_000207.2:p.(Thr566=)	NC_000023.10:g.8503776G>A	(Likely) benign	1 lab	da2473eb4a
1:211307206 KCNH1 T>C	1	211307206	211307206	T	C	KCNH1	c.79+3A>G	NM_172362.2	NP_758872.1:p.?	NC_000001.10:g.211307206T>C	(Likely) benign	1 lab	da2551cc99
2:27282266 AGBL5 G>A	2	27282266	27282266	G	A	AGBL5	c.2083G>A	NM_021831.5	NP_068603.4:p.(Val695Ile)	NC_000002.11:g.27282266G>A	(Likely) benign	1 lab	da271c81c7
7:21805227 DNAH11 G>A	7	21805227	21805227	G	A	DNAH11				NC_000007.13:g.21805227G>A	(Likely) benign	1 lab	da271f30f2
11:2906237 CDKN1C AGCCGGGGCCGGG>A	11	2906237	2906251	AGCCGGGGCCGGG	A	CDKN1C	c.438_449del	NM_001122630.2	NP_001116102.1:p.(Ala150_Pro153del)	NC_000011.9:g.2906240_2906251del	VUS	1 lab	da279132ee
15:57545656 TCF12 C>A	15	57545656	57545656	C	A	TCF12	c.1457C>A	NM_207037.1	NP_996920.1:p.(Ser486Ter)	NC_000015.9:g.57545656C>A	(Likely) pathogenic	1 lab	da28d736f9
21:46308638 ITGB2 G>A	21	46308638	46308638	G	A	ITGB2	c.2050C>T	NM_000211.3	NP_000202.2:p.(Arg684Cys)	NC_000021.8:g.46308638G>A	VUS	1 lab	da3092162e
1:158612619 SPTA1 G>A	1	158612619	158612619	G	A	SPTA1	c.4590C>T	NM_003126.3	NP_003117.2:p.(Asp1530=)	NC_000001.10:g.158612619G>A	(Likely) benign	1 lab	da292944a3
2:159517942 PKP4 A>G	2	159517942	159517942	A	G	PKP4	c.2191A>G	NM_003628.4	NP_003619.2:p.(Thr731Ala)	NC_000002.11:g.159517942A>G	(Likely) benign	1 lab	da2951b689
20:61941761 COL20A1 C>T	20	61941761	61941761	C	T	COL20A1	c.1292C>T	NM_020882.2	NP_065933.2:p.(Thr431Met)	NC_000020.10:g.61941761C>T	(Likely) benign	1 lab	da295a987d
16:2130181 TSC2 G>GC	16	2130181	2130182	G	GC	TSC2	c.3413_3414insC	NM_000548.3	NP_000539.2:p.(Val1139SerfsTer29)	NC_000016.9:g.2130181_2130182insC	(Likely) pathogenic	1 lab	da2b34c1f9
2:179594106 TTN G>T	2	179594106	179594106	G	T	TTN	c.18777C>A	NM_001267550.1	NP_001254479.1:p.(Thr6259=)	NC_000002.11:g.179594106G>T	(Likely) benign	1 lab	da2b4133c6
9:130509518 SH2D3C C>T	9	130509518	130509518	C	T	SH2D3C	c.1172G>A	NM_170600.2	NP_733745.1:p.(Arg391His)	NC_000009.11:g.130509518C>T	VUS	1 lab	da2b658f68
7:98574675 TRRAP C>T	7	98574675	98574675	C	T	TRRAP	c.8340C>T	NM_001244580.1	NP_001231509.1:p.(Tyr2780=)	NC_000007.13:g.98574675C>T	(Likely) benign	1 lab	da2c574a7e
1:214588000 PTPN14 C>T	1	214588000	214588000	C	T	PTPN14	c.414G>A	NM_005401.4	NP_005392.2:p.(Val138=)	NC_000001.10:g.214588000C>T	(Likely) benign	1 lab	da2d618a83
9:140918081 CACNA1B C>A	9	140918081	140918081	C	A	CACNA1B	c.2886C>A	NM_000718.3	NP_000709.1:p.(Pro962=)	NC_000009.11:g.140918081C>A	(Likely) benign	1 lab	da2d6e2f24
3:46010113 FYCO1 T>G	3	46010113	46010113	T	G	FYCO1	c.713A>C	NM_024513.3	NP_078789.2:p.(Glu238Ala)	NC_000003.11:g.46010113T>G	(Likely) benign	1 lab	da2d83cdce
2:136473211 R3HDM1 G>A	2	136473211	136473211	G	A	R3HDM1	c.2726G>A	NM_001282798.1	NP_001269727.1:p.(Gly909Glu)	NC_000002.11:g.136473211G>A	(Likely) benign	1 lab	da2dc06952
X:64708864 ZC3H12B A>G	X	64708864	64708864	A	G	ZC3H12B	c.183A>G	NM_001010888.3	NP_001010888.3:p.(Gln61=)	NC_000023.10:g.64708864A>G	(Likely) benign	1 lab	da2e6a12f5
20:50405649 SALL4 T>C	20	50405649	50405649	T	C	SALL4	c.1182A>G	NM_001318031.1	NP_001304960.1:p.(Arg394=)	NC_000020.10:g.50405649T>C	(Likely) benign	1 lab	da2fda8e83
7:81399282 HGF C>A	7	81399282	81399282	C	A	HGF	c.6G>T	NM_000601.5	NP_000592.3:p.(Trp2Cys)	NC_000007.13:g.81399282C>A	VUS	1 lab	da3089df89
14:21991738 SALL2 C>T	14	21991738	21991738	C	T	SALL2	c.2124G>A	NM_005407.2	NP_005398.2:p.(Gln708=)	NC_000014.8:g.21991738C>T	(Likely) benign	1 lab	da310a59ec
4:79437090 FRAS1 G>A	4	79437090	79437090	G	A	FRAS1	c.10312G>A	NM_025074.7	NP_079350.5:p.(Val3438Met)	NC_000004.11:g.79437090G>A	(Likely) benign	1 lab	da312db2e2
17:29548948 NF1 G>A	17	29548948	29548948	G	A	NF1	c.1721+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548948G>A	(Likely) pathogenic	1 lab	da318705ef
20:34776298 EPB41L1 C>T	20	34776298	34776298	C	T	EPB41L1	c.903C>T	NM_001258329.1	NP_001245258.1:p.(Gly301=)	NC_000020.10:g.34776298C>T	(Likely) benign	1 lab	da31f05d59
1:16354374 CLCNKA T>G	1	16354374	16354374	T	G	CLCNKA	c.840T>G	NM_004070.3	NP_004061.3:p.(Pro280=)	NC_000001.10:g.16354374T>G	(Likely) benign	1 lab	da344bfbf4
X:140969412 MAGEC3 GA>G	X	140969412	140969413	GA	G	MAGEC3	c.740del	NM_138702.1	NP_619647.1:p.(Asp247AlafsTer7)	NC_000023.10:g.140969413del	VUS	1 lab	da34bde0d3
17:36635694 ARHGAP23 C>G	17	36635694	36635694	C	G	ARHGAP23	c.2454C>G	NM_001199417.2	NP_001186346.1:p.(Asn818Lys)	NC_000017.10:g.36635694C>G	VUS	1 lab	da3567bcd5
15:42984522 STARD9 G>C	15	42984522	42984522	G	C	STARD9	c.10746G>C	NM_020759.3	NP_065810.2:p.(Ser3582=)	NC_000015.9:g.42984522G>C	(Likely) benign	1 lab	da36dbbe94
6:43623375 RSPH9 G>C	6	43623375	43623375	G	C	RSPH9	c.425G>C	NM_001193341.1	NP_001180270.1:p.(Gly142Ala)	NC_000006.11:g.43623375G>C	VUS	1 lab	da389980db
16:68729247 CDH3 G>A	16	68729247	68729247	G	A	CDH3	c.2092G>A	NM_001793.5	NP_001784.2:p.(Val698Ile)	NC_000016.9:g.68729247G>A	VUS	1 lab	da3a39a82e
8:140743340 TRAPPC9 G>T	8	140743340	140743340	G	T	TRAPPC9	c.3384C>A	NM_001321646.1	NP_001308575.1:p.(Pro1128=)	NC_000008.10:g.140743340G>T	(Likely) benign	1 lab	da3f523340
2:16080804 MYCN C>G	2	16080804	16080804	C	G	MYCN	c.96C>G	NM_001293233.1	NP_001280162.1:p.(Pro32=)	NC_000002.11:g.16080804C>G	(Likely) benign	1 lab	da413b41fb
X:119293064 RHOXF2 G>A	X	119293064	119293064	G	A	RHOXF2	c.223G>A	NM_032498.2	NP_115887.1:p.(Gly75Arg)	NC_000023.10:g.119293064G>A	VUS	1 lab	da423b31a7
14:65239384 SPTB C>T	14	65239384	65239384	C	T	SPTB	c.5467G>A	NM_001024858.3	NP_001020029.1:p.(Asp1823Asn)	NC_000014.8:g.65239384C>T	VUS	1 lab	da47660cb5
15:100516360 ADAMTS17 C>T	15	100516360	100516360	C	T	ADAMTS17	c.3017G>A	NM_139057.3	NP_620688.2:p.(Arg1006His)	NC_000015.9:g.100516360C>T	VUS	1 lab	da480680ad
11:73744693 C2CD3 T>G	11	73744693	73744693	T	G	C2CD3	c.6512A>C	NM_001286577.1	NP_001273506.1:p.(Asn2171Thr)	NC_000011.9:g.73744693T>G	(Likely) benign	1 lab	da48fc1a1d
10:123847214 TACC2 C>T	10	123847214	123847214	C	T	TACC2	c.5199C>T	NM_206862.3	NP_996744.3:p.(Phe1733=)	NC_000010.10:g.123847214C>T	(Likely) benign	1 lab	da4981d451
1:8029494 PARK7 T>G	1	8029494	8029494	T	G	PARK7	c.252+30T>G	NM_001123377.1	NP_001116849.1:p.?	NC_000001.10:g.8029494T>G	(Likely) benign	1 lab	da4ad7bc09
19:55670772 DNAAF3 G>A	19	55670772	55670772	G	A	DNAAF3	c.1122C>T	NM_001256716.1	NP_001243645.1:p.(Thr374=)	NC_000019.9:g.55670772G>A	(Likely) benign	1 lab	da4bfa35ed
X:153219920 HCFC1 T>A	X	153219920	153219920	T	A	HCFC1	c.3930A>T	NM_005334.2	NP_005325.2:p.(Ala1310=)	NC_000023.10:g.153219920T>A	(Likely) benign	1 lab	da4c2a68c1
2:233195446 DIS3L2 G>A	2	233195446	233195446	G	A	DIS3L2	c.1970G>A	NM_152383.4	NP_689596.4:p.(Arg657His)	NC_000002.11:g.233195446G>A	(Likely) benign	1 lab	da4c8648cc
16:15880531 MYH11 C>T	16	15880531	15880531	C	T	MYH11	c.589G>A	NM_001040113.1	NP_001035202.1:p.(Val197Met)	NC_000016.9:g.15880531C>T	VUS	1 lab	da4d139fc7
8:28574701 EXTL3 C>T	8	28574701	28574701	C	T	EXTL3	c.1125C>T	NM_001440.3	NP_001431.1:p.(Tyr375=)	NC_000008.10:g.28574701C>T	(Likely) benign	1 lab	da4f79257e
1:215914808 USH2A C>T	1	215914808	215914808	C	T	USH2A	c.11620G>A	NM_206933.2	NP_996816.2:p.(Val3874Ile)	NC_000001.10:g.215914808C>T	VUS	1 lab	da509cbb49
22:29737602 AP1B1 C>T	22	29737602	29737602	C	T	AP1B1	c.1684G>A	NM_001127.3	NP_001118.3:p.(Glu562Lys)	NC_000022.10:g.29737602C>T	VUS	1 lab	da516738f0
7:117250628 CFTR T>A	7	117250628	117250628	T	A	CFTR	c.3044T>A	NM_000492.3	NP_000483.3:p.(Ile1015Asn)	NC_000007.13:g.117250628T>A	VUS	1 lab	da51ab8921
7:75912160 SRRM3 G>C	7	75912160	75912160	G	C	SRRM3	c.1565G>C	NM_001291831.1	NP_001278760.1:p.(Arg522Pro)	NC_000007.13:g.75912160G>C	(Likely) benign	1 lab	da5350ad45
8:126448577 TRIB1 C>G	8	126448577	126448577	C	G	TRIB1	c.983C>G	NM_025195.4	NP_079471.1:p.(Thr328Ser)	NC_000008.10:g.126448577C>G	VUS	1 lab	da535193e8
11:117246450 CEP164 G>A	11	117246450	117246450	G	A	CEP164	c.1260G>A	NM_014956.4	NP_055771.4:p.(Ser420=)	NC_000011.9:g.117246450G>A	(Likely) benign	1 lab	da53d3aa81
1:43392783 SLC2A1 C>G	1	43392783	43392783	C	G	SLC2A1	c.1408G>C	NM_006516.3	NP_006507.2:p.(Gly470Arg)	NC_000001.10:g.43392783C>G	VUS	1 lab	da543fecd1
3:136701121 IL20RB G>A	3	136701121	136701121	G	A	IL20RB	c.335G>A	NM_144717.4	NP_653318.2:p.(Arg112His)	NC_000003.11:g.136701121G>A	VUS	1 lab	da55132017
17:44087755 MAPT C>T	17	44087755	44087755	C	T	MAPT	c.902C>T	NM_005910.5	NP_005901.2:p.(Pro301Leu)	NC_000017.10:g.44087755C>T	(Likely) pathogenic	1 lab	da5539813c
6:146625870 GRM1 G>A	6	146625870	146625870	G	A	GRM1	c.1074G>A	NM_001278064.1	NP_001264993.1:p.(Arg358=)	NC_000006.11:g.146625870G>A	(Likely) benign	1 lab	da575e99f7
11:6520001 DNHD1 C>T	11	6520001	6520001	C	T	DNHD1	c.556C>T	NM_144666.2	NP_653267.2:p.(Arg186Ter)	NC_000011.9:g.6520001C>T	VUS	1 lab	da5840fc38
10:15655720 ITGA8 T>C	10	15655720	15655720	T	C	ITGA8	c.1492A>G	NM_003638.2	NP_003629.2:p.(Met498Val)	NC_000010.10:g.15655720T>C	(Likely) benign	1 lab	da589c68b6
X:153187203 ARHGAP4 G>A	X	153187203	153187203	G	A	ARHGAP4	c.127C>T	NM_001164741.1	NP_001158213.1:p.(Arg43Trp)	NC_000023.10:g.153187203G>A	VUS	1 lab	da5ccf6c4e
17:74470158 RHBDF2 C>T	17	74470158	74470158	C	T	RHBDF2	c.1618G>A	NM_024599.5	NP_078875.4:p.(Gly540Ser)	NC_000017.10:g.74470158C>T	(Likely) benign	1 lab	da5e08c769
2:179451911 TTN C>T	2	179451911	179451911	C	T	TTN	c.64027G>A	NM_001267550.1	NP_001254479.1:p.(Val21343Ile)	NC_000002.11:g.179451911C>T	VUS	1 lab	da5e16613c
9:131295881 GLE1 C>T	9	131295881	131295881	C	T	GLE1	c.1402C>T	NM_001003722.1	NP_001003722.1:p.(Leu468Phe)	NC_000009.11:g.131295881C>T	VUS	1 lab	da6149c852
X:153692402 PLXNA3 G>A	X	153692402	153692402	G	A	PLXNA3	c.1656G>A	NM_017514.4	NP_059984.3:p.(Thr552=)	NC_000023.10:g.153692402G>A	(Likely) benign	1 lab	da61ace7c5
2:173900919 RAPGEF4 T>C	2	173900919	173900919	T	C	RAPGEF4	c.2767T>C	NM_007023.4	NP_008954.2:p.(Phe923Leu)	NC_000002.11:g.173900919T>C	VUS	1 lab	da61d9e7f5
6:170176738 ERMARD C>T	6	170176738	170176738	C	T	ERMARD	c.1708C>T	NM_018341.2	NP_060811.1:p.(Gln570Ter)	NC_000006.11:g.170176738C>T	(Likely) pathogenic	1 lab	da61fb3cf5
18:43481014 EPG5 C>T	18	43481014	43481014	C	T	EPG5	c.4593G>A	NM_020964.3	NP_066015.2:p.(Lys1531=)	NC_000018.9:g.43481014C>T	(Likely) benign	1 lab	da62314d7c
10:102770250 PDZD7 G>C	10	102770250	102770250	G	C	PDZD7	c.2396C>G	NM_001195263.1	NP_001182192.1:p.(Pro799Arg)	NC_000010.10:g.102770250G>C	VUS	1 lab	da6879bcff
21:45750761 CFAP410 C>T	21	45750761	45750761	C	T	CFAP410	c.584G>A	NM_001271441.1	NP_001258370.1:p.(Arg195Gln)	NC_000021.8:g.45750761C>T	VUS	1 lab	da69556fc6
5:70806521 BDP1 A>C	5	70806521	70806521	A	C	BDP1	c.3602A>C	NM_018429.2	NP_060899.2:p.(Glu1201Ala)	NC_000005.9:g.70806521A>C	(Likely) benign	1 lab	da6ba9b3de
5:176523722 FGFR4 C>A	5	176523722	176523722	C	A	FGFR4	c.2133C>A	NM_213647.2	NP_998812.1:p.(Pro711=)	NC_000005.9:g.176523722C>A	(Likely) benign	1 lab	da6bfde240
8:144993424 PLEC G>A	8	144993424	144993424	G	A	PLEC	c.10976C>T	NM_201380.3	NP_958782.1:p.(Thr3659Met)	NC_000008.10:g.144993424G>A	VUS	1 lab	da6ff810c3
19:1220707 STK11 G>T	19	1220707	1220707	G	T	STK11	c.725G>T	NM_000455.4	NP_000446.1:p.(Gly242Val)	NC_000019.9:g.1220707G>T	(Likely) pathogenic	1 lab	da703dd3c2
4:2306325 ZFYVE28 A>G	4	2306325	2306325	A	G	ZFYVE28	c.1532T>C	NM_001172659.1	NP_001166130.1:p.(Leu511Pro)	NC_000004.11:g.2306325A>G	(Likely) benign	1 lab	da7046b0fc
11:17627609 OTOG G>A	11	17627609	17627609	G	A	OTOG	c.4119G>A	NM_001277269.1	NP_001264198.1:p.(Ser1373=)	NC_000011.9:g.17627609G>A	(Likely) benign	1 lab	da710cbef7
X:41196713 DDX3X C>T	X	41196713	41196713	C	T	DDX3X	c.98C>T	NM_001356.4	NP_001347.3:p.(Ala33Val)	NC_000023.10:g.41196713C>T	(Likely) benign	1 lab	da7157f54d
1:120529579 NOTCH2 A>G	1	120529579	120529579	A	G	NOTCH2	c.874+4T>C	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120529579A>G	(Likely) benign	1 lab	da74de4112
9:4490771 SLC1A1 G>A	9	4490771	4490771	G	A	SLC1A1	c.91+1G>A	NM_004170.5	NP_004161.4:p.?	NC_000009.11:g.4490771G>A	VUS	1 lab	da75987f1b
X:53277397 IQSEC2 G>A	X	53277397	53277397	G	A	IQSEC2	c.2481C>T	NM_001111125.2	NP_001104595.1:p.(Asp827=)	NC_000023.10:g.53277397G>A	(Likely) benign	1 lab	da760cc9af
11:17190649 PIK3C2A T>C	11	17190649	17190649	T	C	PIK3C2A	c.640A>G	NM_001321378.1	NP_001308307.1:p.(Ile214Val)	NC_000011.9:g.17190649T>C	(Likely) benign	1 lab	da78925f66
6:73332283 KCNQ5 C>T	6	73332283	73332283	C	T	KCNQ5	c.366C>T	NM_001160133.1	NP_001153605.1:p.(Pro122=)	NC_000006.11:g.73332283C>T	(Likely) benign	1 lab	da78ddd5dd
18:77475520 CTDP1 C>T	18	77475520	77475520	C	T	CTDP1	c.2060C>T	NM_004715.4	NP_004706.3:p.(Ala687Val)	NC_000018.9:g.77475520C>T	VUS	1 lab	da79e9e62a
12:109612044 ACACB C>G	12	109612044	109612044	C	G	ACACB	c.1216+9C>G	NM_001093.3	NP_001084.3:p.?	NC_000012.11:g.109612044C>G	(Likely) benign	1 lab	da7b654fdb
4:40245268 RHOH C>A	4	40245268	40245268	C	A	RHOH	c.262C>A	NM_001278359.1	NP_001265288.1:p.(His88Asn)	NC_000004.11:g.40245268C>A	(Likely) benign	1 lab	da7c6b21ed
2:179597207 TTN G>A	2	179597207	179597207	G	A	TTN	c.16581C>T	NM_001267550.1	NP_001254479.1:p.(Val5527=)	NC_000002.11:g.179597207G>A	(Likely) benign	1 lab	da7e45459b
3:167422677 PDCD10 G>A	3	167422677	167422677	G	A	PDCD10	c.103C>T	NM_007217.3	NP_009148.2:p.(Arg35Ter)	NC_000003.11:g.167422677G>A	(Likely) pathogenic	1 lab	da7e880a40
11:33689561 KIAA1549L C>T	11	33689561	33689561	C	T	KIAA1549L	c.6302C>T	NM_012194.3	NP_036326.3:p.(Ser2101Leu)	NC_000011.9:g.33689561C>T	VUS	1 lab	da7ead4137
X:144904384 SLITRK2 T>C	X	144904384	144904384	T	C	SLITRK2	c.441T>C	NM_032539.4	NP_115928.1:p.(Ser147=)	NC_000023.10:g.144904384T>C	(Likely) benign	1 lab	da80535f0e
2:179393513 TTN G>A	2	179393513	179393513	G	A	TTN	c.106965C>T	NM_001267550.1	NP_001254479.1:p.(Val35655=)	NC_000002.11:g.179393513G>A	(Likely) benign	1 lab	da84b9f2d3
X:21761901 SMPX G>T	X	21761901	21761901	G	T	SMPX	c.99C>A	NM_014332.3	NP_055147.1:p.(Pro33=)	NC_000023.10:g.21761901G>T	(Likely) benign	1 lab	da85b0185c
20:3891453 PANK2 A>T	20	3891453	3891453	A	T	PANK2	c.338A>T	NM_001324191.1	NP_001311120.1:p.(Asn113Ile)	NC_000020.10:g.3891453A>T	VUS	1 lab	da865eed95
X:135126689 SLC9A6 A>G	X	135126689	135126689	A	G	SLC9A6	c.1912A>G	NM_001042537.1	NP_001036002.1:p.(Thr638Ala)	NC_000023.10:g.135126689A>G	VUS	1 lab	da8665cd5e
20:47611101 ARFGEF2 A>T	20	47611101	47611101	A	T	ARFGEF2	c.3087A>T	NM_006420.2	NP_006411.2:p.(Thr1029=)	NC_000020.10:g.47611101A>T	(Likely) benign	1 lab	da872b8e0c
6:56483840 DST C>A	6	56483840	56483840	C	A	DST	c.4992G>T	NM_001723.5	NP_001714.1:p.(Lys1664Asn)	NC_000006.11:g.56483840C>A	(Likely) benign	1 lab	da8874970a
X:53279584 IQSEC2 G>A	X	53279584	53279584	G	A	IQSEC2	c.2174C>T	NM_001111125.2	NP_001104595.1:p.(Pro725Leu)	NC_000023.10:g.53279584G>A	(Likely) benign	1 lab	da88e7ee0a
20:10629279 JAG1 CAG>C	20	10629279	10629281	CAG	C	JAG1	c.1485_1486del	NM_000214.3	NP_000205.1:p.(Cys496PhefsTer9)	NC_000020.10:g.10629280_10629281del	(Likely) pathogenic	1 lab	da89bfc560
9:71864296 TJP2 A>T	9	71864296	71864296	A	T	TJP2	c.2886A>T	NM_004817.4	NP_004808.2:p.(Ile962=)	NC_000009.11:g.71864296A>T	(Likely) benign	1 lab	da8a29dacd
17:80039930 FASN C>A	17	80039930	80039930	C	A	FASN	c.6118G>T	NM_004104.5	NP_004095.4:p.(Ala2040Ser)	NC_000017.10:g.80039930C>A	(Likely) benign	1 lab	da8b16b814
12:124298141 DNAH10 A>G	12	124298141	124298141	A	G	DNAH10	c.3221A>G	NM_207437.3	NP_997320.2:p.(Asn1074Ser)	NC_000012.11:g.124298141A>G	VUS	1 lab	da8b8a28c5
16:89877439 FANCA G>A	16	89877439	89877439	G	A	FANCA	c.324C>T	NM_001286167.2	NP_001273096.1:p.(Pro108=)	NC_000016.9:g.89877439G>A	(Likely) benign	1 lab	da8e2a9f42
X:102974161 GLRA4 G>A	X	102974161	102974161	G	A	GLRA4	c.757C>T	NM_001172285.1	NP_001165756.1:p.(Arg253Trp)	NC_000023.10:g.102974161G>A	(Likely) benign	1 lab	da8e45ce4d
X:118222475 KIAA1210 C>A	X	118222475	118222475	C	A	KIAA1210	c.2718G>T	NM_020721.1	NP_065772.1:p.(Met906Ile)	NC_000023.10:g.118222475C>A	(Likely) benign	1 lab	da8e5c6fde
20:34060647 CEP250 G>A	20	34060647	34060647	G	A	CEP250	c.1200G>A	NM_007186.5	NP_009117.2:p.(Gln400=)	NC_000020.10:g.34060647G>A	(Likely) benign	1 lab	da8fbc14d1
9:135202993 SETX G>A	9	135202993	135202993	G	A	SETX	c.3992C>T	NM_015046.5	NP_055861.3:p.(Pro1331Leu)	NC_000009.11:g.135202993G>A	VUS	1 lab	da9196f2f9
20:55777684 BMP7 G>A	20	55777684	55777684	G	A	BMP7	c.612-5C>T	NM_001719.2	NP_001710.1:p.?	NC_000020.10:g.55777684G>A	(Likely) benign	1 lab	da92e9e828
9:2648286 VLDLR G>A	9	2648286	2648286	G	A	VLDLR	c.1901G>A	NM_003383.4	NP_003374.3:p.(Arg634His)	NC_000009.11:g.2648286G>A	VUS	1 lab	da93b961b5
9:135786904 TSC1 A>G	9	135786904	135786904	A	G	TSC1	c.965T>C	NM_000368.4	NP_000359.1:p.(Met322Thr)	NC_000009.11:g.135786904A>G	(Likely) benign	1 lab	da94200da2
22:50297992 ALG12 G>A	22	50297992	50297992	G	A	ALG12	c.1155C>T	NM_024105.3	NP_077010.1:p.(Pro385=)	NC_000022.10:g.50297992G>A	(Likely) benign	1 lab	da953cb35b
8:28574546 EXTL3 T>A	8	28574546	28574546	T	A	EXTL3	c.970T>A	NM_001440.3	NP_001431.1:p.(Ser324Thr)	NC_000008.10:g.28574546T>A	VUS	1 lab	da978ce635
1:196952046 CFHR5 T>A	1	196952046	196952046	T	A	CFHR5	c.90T>A	NM_030787.3	NP_110414.1:p.(His30Gln)	NC_000001.10:g.196952046T>A	(Likely) benign	1 lab	da97e11422
2:196753041 DNAH7 T>A	2	196753041	196753041	T	A	DNAH7	c.5347A>T	NM_018897.3	NP_061720.2:p.(Met1783Leu)	NC_000002.11:g.196753041T>A	(Likely) benign	1 lab	da9888622d
1:152276994 FLG C>T	1	152276994	152276994	C	T	FLG	c.10368G>A	NM_002016.1	NP_002007.1:p.(Arg3456=)	NC_000001.10:g.152276994C>T	(Likely) benign	1 lab	da989a65d9
X:144905650 SLITRK2 A>C	X	144905650	144905650	A	C	SLITRK2	c.1707A>C	NM_032539.4	NP_115928.1:p.(Leu569=)	NC_000023.10:g.144905650A>C	(Likely) benign	1 lab	da989f4b8c
9:98220526 PTCH1 G>A	9	98220526	98220526	G	A	PTCH1	c.2739C>T	NM_001083602.1	NP_001077071.1:p.(Asn913=)	NC_000009.11:g.98220526G>A	(Likely) benign	1 lab	da9b0e2d96
13:32972874 BRCA2 GC>G	13	32972874	32972875	GC	G	BRCA2	c.10225del	NM_000059.4	NP_000050.3:p.(Gln3409ArgfsTer18)	NC_000013.10:g.32972875del	VUS	1 lab	da9b2a0bef
12:57397276 ZBTB39 T>C	12	57397276	57397276	T	C	ZBTB39	c.1426A>G	NM_014830.3	NP_055645.1:p.(Asn476Asp)	NC_000012.11:g.57397276T>C	VUS	1 lab	da9bb929eb
1:225373017 DNAH14 G>A	1	225373017	225373017	G	A	DNAH14	c.5560G>A	NM_001367479.1	NP_001354408.1:p.(Gly1854Ser)	NC_000001.10:g.225373017G>A	(Likely) benign	1 lab	da9be3c427
X:112058923 AMOT G>A	X	112058923	112058923	G	A	AMOT	c.1055C>T	NM_001113490.1	NP_001106962.1:p.(Pro352Leu)	NC_000023.10:g.112058923G>A	(Likely) benign	1 lab	da9cc59721
11:117266292 CEP164 G>C	11	117266292	117266292	G	C	CEP164	c.2943G>C	NM_014956.4	NP_055771.4:p.(Glu981Asp)	NC_000011.9:g.117266292G>C	VUS	1 lab	da9e7cee56
19:54631504 PRPF31 G>A	19	54631504	54631504	G	A	PRPF31	c.1002G>A	NM_015629.3	NP_056444.3:p.(Pro334=)	NC_000019.9:g.54631504G>A	(Likely) benign	1 lab	da9f4bd7e5
17:78083742 GAA A>G	17	78083742	78083742	A	G	GAA	c.1327-2A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78083742A>G	(Likely) pathogenic	1 lab	daa267d05f
10:123279710 FGFR2 A>G	10	123279710	123279710	A	G	FGFR2	c.749-27T>C	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123279710A>G	(Likely) benign	1 lab	daa3000161
11:78523276 TENM4 G>A	11	78523276	78523276	G	A	TENM4	c.1869C>T	NM_001098816.2	NP_001092286.2:p.(Cys623=)	NC_000011.9:g.78523276G>A	(Likely) benign	1 lab	daa437d7cf
X:117630027 DOCK11 C>G	X	117630027	117630027	C	G	DOCK11	c.93C>G	NM_144658.3	NP_653259.3:p.(Ser31=)	NC_000023.10:g.117630027C>G	(Likely) benign	1 lab	daa47d2c5c
X:74637000 ZDHHC15 T>C	X	74637000	74637000	T	C	ZDHHC15	c.889A>G	NM_144969.2	NP_659406.1:p.(Met297Val)	NC_000023.10:g.74637000T>C	(Likely) benign	1 lab	daa6723c5d
11:121032938 TECTA C>T	11	121032938	121032938	C	T	TECTA	c.5131C>T	NM_005422.2	NP_005413.2:p.(Leu1711Phe)	NC_000011.9:g.121032938C>T	VUS	1 lab	daa67c69cc
3:188327390 LPP C>T	3	188327390	188327390	C	T	LPP	c.871C>T	NM_005578.4	NP_005569.1:p.(Pro291Ser)	NC_000003.11:g.188327390C>T	(Likely) benign	1 lab	daa7603bf6
14:105411302 AHNAK2 G>C	14	105411302	105411302	G	C	AHNAK2	c.10486C>G	NM_138420.3	NP_612429.2:p.(Leu3496Val)	NC_000014.8:g.105411302G>C	(Likely) benign	1 lab	daa7ef232d
16:68390628 PRMT7 G>A	16	68390628	68390628	G	A	PRMT7	c.1836G>A	NM_001351143.1	NP_001338072.1:p.(Val612=)	NC_000016.9:g.68390628G>A	(Likely) benign	1 lab	daa8bc8872
19:55743189 PPP6R1 G>C	19	55743189	55743189	G	C	PPP6R1	c.2287C>G	NM_014931.4	NP_055746.3:p.(Arg763Gly)	NC_000019.9:g.55743189G>C	(Likely) benign	1 lab	daac92e7b4
17:40716080 COASY C>T	17	40716080	40716080	C	T	COASY	c.802C>T	NM_025233.6	NP_079509.5:p.(Pro268Ser)	NC_000017.10:g.40716080C>T	VUS	1 lab	daafa7f696
X:134994533 SAGE1 A>G	X	134994533	134994533	A	G	SAGE1	c.2575A>G	NM_018666.2	NP_061136.2:p.(Lys859Glu)	NC_000023.10:g.134994533A>G	VUS	1 lab	daafb97692
X:32591863 DMD T>A	X	32591863	32591863	T	A	DMD	c.1334A>T	NM_004010.3	NP_004001.1:p.(Gln445Leu)	NC_000023.10:g.32591863T>A	VUS	1 lab	dab07df7c5
12:26780964 ITPR2 A>C	12	26780964	26780964	A	C	ITPR2	c.3064+2T>G	NM_002223.3	NP_002214.2:p.?	NC_000012.11:g.26780964A>C	VUS	1 lab	dab18874f4
1:226109570 PYCR2 G>A	1	226109570	226109570	G	A	PYCR2	c.528C>T	NM_013328.3	NP_037460.2:p.(Ser176=)	NC_000001.10:g.226109570G>A	(Likely) benign	1 lab	dab204864f
X:12837691 PRPS2 C>T	X	12837691	12837691	C	T	PRPS2	c.605C>T	NM_001039091.2	NP_001034180.1:p.(Ala202Val)	NC_000023.10:g.12837691C>T	VUS	1 lab	dab3b578c7
2:109381238 RANBP2 AAAG>A	2	109381238	109381244	AAAG	A	RANBP2	c.4247_4249del	NM_006267.5	NP_006258.3:p.(Glu1416del)	NC_000002.11:g.109381242_109381244del	VUS	1 lab	dab46d7937
3:128205791 GATA2 GC>G	3	128205791	128205794	GC	G	GATA2	c.83del	NM_032638.5	NP_116027.2:p.(Gly28AlafsTer52)	NC_000003.11:g.128205794del	(Likely) pathogenic	1 lab	dab51c44fb
15:82934682 MISSING G>A	15	82934682	82934682	G	A	MISSING				NC_000015.9:g.82934682G>A	(Likely) benign	1 lab	dab67fe5c2
22:24143122 SMARCB1 T>G	22	24143122	24143122	T	G	SMARCB1	c.363-9T>G	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24143122T>G	(Likely) pathogenic	1 lab	dab69e419b
X:153588493 FLNA G>A	X	153588493	153588493	G	A	FLNA	c.3670C>T	NM_001110556.2	NP_001104026.1:p.(Leu1224Phe)	NC_000023.10:g.153588493G>A	VUS	1 lab	dab749f104
X:77301920 ATP7A G>C	X	77301920	77301920	G	C	ATP7A	c.4356G>C	NM_000052.6	NP_000043.4:p.(Leu1452Phe)	NC_000023.10:g.77301920G>C	VUS	1 lab	dab92b2b2e
3:128628975 ACAD9 C>A	3	128628975	128628975	C	A	ACAD9	c.1675C>A	NM_014049.4	NP_054768.2:p.(Arg559Ser)	NC_000003.11:g.128628975C>A	(Likely) benign	1 lab	daba150a1f
7:39736340 RALA A>C	7	39736340	39736340	A	C	RALA	c.380A>C	NM_005402.4	NP_005393.2:p.(Asn127Thr)	NC_000007.13:g.39736340A>C	(Likely) pathogenic	1 lab	dac142ff15
6:152655385 SYNE1 G>C	6	152655385	152655385	G	C	SYNE1	c.12552C>G	NM_182961.3	NP_892006.3:p.(Ser4184Arg)	NC_000006.11:g.152655385G>C	VUS	1 lab	dac16aaceb
5:149753865 TCOF1 G>A	5	149753865	149753865	G	A	TCOF1	c.999G>A	NM_001135243.1	NP_001128715.1:p.(Gly333=)	NC_000005.9:g.149753865G>A	(Likely) benign	1 lab	dac408fd48
2:210678385 UNC80 G>T	2	210678385	210678385	G	T	UNC80	c.1020G>T	NM_032504.1	NP_115893.1:p.(Gln340His)	NC_000002.11:g.210678385G>T	VUS	1 lab	dac57d654e
2:8958879 KIDINS220 C>T	2	8958879	8958879	C	T	KIDINS220	c.153G>A	NM_001348738.1	NP_001335667.1:p.(Leu51=)	NC_000002.11:g.8958879C>T	(Likely) benign	1 lab	dac5d0ab00
17:18082099 MYO15A G>A	17	18082099	18082099	G	A	MYO15A	c.10508G>A	NM_016239.3	NP_057323.3:p.(Arg3503His)	NC_000017.10:g.18082099G>A	VUS	1 lab	dac89c8c53
7:80303298 CD36 G>C	7	80303298	80303298	G	C	CD36	c.1255-1G>C	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80303298G>C	VUS	1 lab	daca74042e
3:38180227 MYD88 C>G	3	38180227	38180227	C	G	MYD88	c.75C>G	NM_001172567.1	NP_001166038.1:p.(Ala25=)	NC_000003.11:g.38180227C>G	(Likely) benign	1 lab	dacb4e8c8a
21:47836030 PCNT C>T	21	47836030	47836030	C	T	PCNT	c.6198C>T	NM_006031.5	NP_006022.3:p.(Leu2066=)	NC_000021.8:g.47836030C>T	(Likely) benign	1 lab	dacc9f2581
6:7585896 DSP C>G	6	7585896	7585896	C	G	DSP	c.8401C>G	NM_004415.2	NP_004406.2:p.(Arg2801Gly)	NC_000006.11:g.7585896C>G	VUS	1 lab	dacecac475
19:11319354 DOCK6 G>C	19	11319354	11319354	G	C	DOCK6	c.5088+8C>G	NM_020812.3	NP_065863.2:p.?	NC_000019.9:g.11319354G>C	(Likely) benign	1 lab	dacf0fc180
9:74319552 CEMIP2 C>T	9	74319552	74319552	C	T	CEMIP2	c.3153G>A	NM_013390.2	NP_037522.1:p.(Pro1051=)	NC_000009.11:g.74319552C>T	(Likely) benign	1 lab	dad1298d24
2:172291674 DCAF17 A>G	2	172291674	172291674	A	G	DCAF17	c.208A>G	NM_025000.3	NP_079276.2:p.(Asn70Asp)	NC_000002.11:g.172291674A>G	VUS	1 lab	dad1416ce0
15:99459385 IGF1R C>T	15	99459385	99459385	C	T	IGF1R	c.1996+25C>T	NM_000875.4	NP_000866.1:p.?	NC_000015.9:g.99459385C>T	(Likely) benign	1 lab	dad358e17a
7:2565127 LFNG C>T	7	2565127	2565127	C	T	LFNG	c.661C>T	NM_001040167.2	NP_001035257.1:p.(Arg221Trp)	NC_000007.13:g.2565127C>T	(Likely) benign	1 lab	dad42032c2
1:114399229 PTPN22 G>A	1	114399229	114399229	G	A	PTPN22	c.421C>T	NM_015967.6	NP_057051.3:p.(Arg141Cys)	NC_000001.10:g.114399229G>A	VUS	1 lab	dad57cd0a1
7:103124188 RELN C>T	7	103124188	103124188	C	T	RELN	c.10093G>A	NM_173054.2	NP_774959.1:p.(Val3365Ile)	NC_000007.13:g.103124188C>T	VUS	1 lab	dad6d44720
18:72775926 ZNF407 C>T	18	72775926	72775926	C	T	ZNF407	c.6249C>T	NM_017757.2	NP_060227.2:p.(Val2083=)	NC_000018.9:g.72775926C>T	(Likely) benign	1 lab	dad7076597
22:16287562 POTEH G>C	22	16287562	16287562	G	C	POTEH	c.324C>G	NM_001136213.1	NP_001129685.1:p.(Cys108Trp)	NC_000022.10:g.16287562G>C	VUS	1 lab	dad7e7eeec
17:29701168 NF1 G>A	17	29701168	29701168	G	A	NF1	c.8452G>A	NM_000267.3	NP_000258.1:p.(Val2818Met)	NC_000017.10:g.29701168G>A	VUS	1 lab	dad8706140
11:6568008 DNHD1 A>G	11	6568008	6568008	A	G	DNHD1	c.5839A>G	NM_144666.2	NP_653267.2:p.(Met1947Val)	NC_000011.9:g.6568008A>G	(Likely) benign	1 lab	dad8b22a60
20:3214799 SLC4A11 C>G	20	3214799	3214799	C	G	SLC4A11	c.582G>C	NM_001174090.1	NP_001167561.1:p.(Glu194Asp)	NC_000020.10:g.3214799C>G	VUS	1 lab	dadb0562c8
X:69665202 DLG3 T>G	X	69665202	69665202	T	G	DLG3	c.151T>G	NM_021120.3	NP_066943.2:p.(Tyr51Asp)	NC_000023.10:g.69665202T>G	VUS	1 lab	dadbdd52b4
5:14287134 TRIO CAG>C	5	14287134	14287138	CAG	C	TRIO	c.505_506del	NM_007118.4	NP_009049.2:p.(Arg169AspfsTer2)	NC_000005.9:g.14287137_14287138del	VUS	1 lab	dadcedc49a
17:18045426 MYO15A G>T	17	18045426	18045426	G	T	MYO15A	c.5683G>T	NM_016239.3	NP_057323.3:p.(Glu1895Ter)	NC_000017.10:g.18045426G>T	(Likely) pathogenic	1 lab	dadd8fed29
3:158369983 GFM1 A>G	3	158369983	158369983	A	G	GFM1	c.845A>G	NM_001308164.1	NP_001295093.1:p.(Gln282Arg)	NC_000003.11:g.158369983A>G	(Likely) benign	1 lab	dadd9fed2c
X:18192368 BEND2 C>T	X	18192368	18192368	C	T	BEND2	c.1763G>A	NM_153346.4	NP_699177.2:p.(Arg588His)	NC_000023.10:g.18192368C>T	(Likely) benign	1 lab	dade73cbad
1:879142 SAMD11 C>T	1	879142	879142	C	T	SAMD11	c.1754C>T	NM_152486.3	NP_689699.2:p.(Thr585Ile)	NC_000001.10:g.879142C>T	VUS	1 lab	dae1e5f723
19:50143203 RRAS C>T	19	50143203	50143203	C	T	RRAS	c.153G>A	NM_006270.4	NP_006261.1:p.(Gln51=)	NC_000019.9:g.50143203C>T	VUS	1 lab	dae28f4b84
17:39976547 FKBP10 C>T	17	39976547	39976547	C	T	FKBP10	c.1090C>T	NM_021939.3	NP_068758.3:p.(Leu364=)	NC_000017.10:g.39976547C>T	(Likely) benign	1 lab	dae2ab6689
2:112765985 MERTK C>T	2	112765985	112765985	C	T	MERTK	c.1893C>T	NM_006343.2	NP_006334.2:p.(Ile631=)	NC_000002.11:g.112765985C>T	VUS	1 lab	dae2f1004f
9:124073124 GSN G>A	9	124073124	124073124	G	A	GSN	c.621+1G>A	NM_001127663.1	NP_001121135.2:p.?	NC_000009.11:g.124073124G>A	VUS	1 lab	dae41d9c3b
14:102446858 DYNC1H1 A>G	14	102446858	102446858	A	G	DYNC1H1	c.932A>G	NM_001376.4	NP_001367.2:p.(His311Arg)	NC_000014.8:g.102446858A>G	VUS	1 lab	dae63e5e31
16:722522 RHOT2 G>A	16	722522	722522	G	A	RHOT2	c.1360G>A	NM_138769.2	NP_620124.1:p.(Ala454Thr)	NC_000016.9:g.722522G>A	(Likely) benign	1 lab	dae6f0363e
1:981459 AGRN C>T	1	981459	981459	C	T	AGRN				NC_000001.10:g.981459C>T	(Likely) benign	1 lab	dae8227705
X:23748972 ACOT9 T>C	X	23748972	23748972	T	C	ACOT9	c.116A>G	NM_001330259.1	NP_001317188.1:p.(Glu39Gly)	NC_000023.10:g.23748972T>C	(Likely) benign	1 lab	dae8e53bf6
7:42018286 GLI3 C>T	7	42018286	42018286	C	T	GLI3	c.1559G>A	NM_000168.5	NP_000159.3:p.(Cys520Tyr)	NC_000007.13:g.42018286C>T	(Likely) pathogenic	1 lab	daea09a27f
7:105644971 CDHR3 G>A	7	105644971	105644971	G	A	CDHR3	c.890G>A	NM_152750.5	NP_689963.2:p.(Arg297Lys)	NC_000007.13:g.105644971G>A	(Likely) benign	1 lab	daea57947b
3:123066753 ADCY5 G>A	3	123066753	123066753	G	A	ADCY5	c.1285-3C>T	NM_183357.2	NP_899200.1:p.?	NC_000003.11:g.123066753G>A	(Likely) benign	1 lab	daed89c2b4
17:29585383 NF1 C>T	17	29585383	29585383	C	T	NF1	c.4132C>T	NM_000267.3	NP_000258.1:p.(Gln1378Ter)	NC_000017.10:g.29585383C>T	(Likely) pathogenic	1 lab	daedab9afd
10:69971027 MYPN C>T	10	69971027	69971027	C	T	MYPN	c.*815C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69971027C>T	VUS	1 lab	0c005d589e
3:4878565 ITPR1 C>A	3	4878565	4878565	C	A	ITPR1	c.8091C>A	NM_001168272.1	NP_001161744.1:p.(Ser2697=)	NC_000003.11:g.4878565C>A	(Likely) benign	1 lab	daee7f0290
X:152018914 NSDHL G>A	X	152018914	152018914	G	A	NSDHL	c.214G>A	NM_015922.3	NP_057006.1:p.(Gly72Arg)	NC_000023.10:g.152018914G>A	VUS	1 lab	daefc375d4
11:17615157 OTOG A>G	11	17615157	17615157	A	G	OTOG	c.3178A>G	NM_001277269.1	NP_001264198.1:p.(Ser1060Gly)	NC_000011.9:g.17615157A>G	VUS	1 lab	daf14780ff
15:23891124 MAGEL2 G>A	15	23891124	23891124	G	A	MAGEL2	c.1766C>T	NM_019066.4	NP_061939.3:p.(Ala589Val)	NC_000015.9:g.23891124G>A	VUS	1 lab	daf1a8b756
19:45207283 CEACAM16 C>A	19	45207283	45207283	C	A	CEACAM16	c.383-5C>A	NM_001039213.4	NP_001034302.2:p.?	NC_000019.9:g.45207283C>A	(Likely) benign	1 lab	daf1f11c42
15:85383392 ALPK3 A>G	15	85383392	85383392	A	G	ALPK3	c.1488A>G	NM_020778.4	NP_065829.3:p.(Thr496=)	NC_000015.9:g.85383392A>G	(Likely) benign	1 lab	daf2eea345
14:105412015 AHNAK2 G>A	14	105412015	105412015	G	A	AHNAK2	c.9773C>T	NM_138420.3	NP_612429.2:p.(Pro3258Leu)	NC_000014.8:g.105412015G>A	VUS	1 lab	daf333ac2a
6:33639879 ITPR3 C>T	6	33639879	33639879	C	T	ITPR3	c.2802C>T	NM_002224.3	NP_002215.2:p.(Ser934=)	NC_000006.11:g.33639879C>T	(Likely) benign	1 lab	daf5911ec2
19:4817693 TICAM1 C>G	19	4817693	4817693	C	G	TICAM1	c.697G>C	NM_182919.3	NP_891549.1:p.(Asp233His)	NC_000019.9:g.4817693C>G	(Likely) benign	1 lab	daf5f44106
3:170811629 TNIK T>G	3	170811629	170811629	T	G	TNIK	c.2720A>C	NM_015028.3	NP_055843.1:p.(Glu907Ala)	NC_000003.11:g.170811629T>G	(Likely) benign	1 lab	daf697d6c0
2:238253260 COL6A3 C>T	2	238253260	238253260	C	T	COL6A3	c.7401G>A	NM_004369.3	NP_004360.2:p.(Ser2467=)	NC_000002.11:g.238253260C>T	(Likely) benign	1 lab	daf6da77f3
1:235969976 LYST A>C	1	235969976	235969976	A	C	LYST	c.2460T>G	NM_001301365.1	NP_001288294.1:p.(Phe820Leu)	NC_000001.10:g.235969976A>C	(Likely) benign	1 lab	daf7002228
X:47835798 ZNF182 G>A	X	47835798	47835798	G	A	ZNF182	c.1688C>T	NM_001178099.1	NP_001171570.1:p.(Thr563Met)	NC_000023.10:g.47835798G>A	VUS	1 lab	daf9982813
19:50504098 VRK3 G>A	19	50504098	50504098	G	A	VRK3	c.561C>T	NM_016440.4	NP_057524.3:p.(Ser187=)	NC_000019.9:g.50504098G>A	(Likely) benign	1 lab	dafac868e7
17:76450700 DNAH17 G>A	17	76450700	76450700	G	A	DNAH17	c.10258C>T	NM_173628.3	NP_775899.3:p.(Pro3420Ser)	NC_000017.10:g.76450700G>A	VUS	1 lab	dafd2c3821
6:51889474 PKHD1 C>T	6	51889474	51889474	C	T	PKHD1	c.5134G>A	NM_138694.3	NP_619639.3:p.(Gly1712Arg)	NC_000006.11:g.51889474C>T	VUS	1 lab	dafedc15c5
5:149360591 SLC26A2 C>T	5	149360591	149360591	C	T	SLC26A2	c.1435C>T	NM_000112.3	NP_000103.2:p.(Gln479Ter)	NC_000005.9:g.149360591C>T	(Likely) pathogenic	1 lab	daff3a0628
12:120750285 SIRT4 A>C	12	120750285	120750285	A	C	SIRT4	c.524A>C	NM_012240.2	NP_036372.1:p.(Gln175Pro)	NC_000012.11:g.120750285A>C	VUS	1 lab	db00c6dbb9
8:61655383 CHD7 GT>G	8	61655383	61655384	GT	G	CHD7	c.1393del	NM_017780.4	NP_060250.2:p.(Ser465ProfsTer7)	NC_000008.10:g.61655384del	(Likely) pathogenic	1 lab	db0275435d
2:179426660 TTN C>A	2	179426660	179426660	C	A	TTN	c.84199G>T	NM_001267550.1	NP_001254479.1:p.(Val28067Phe)	NC_000002.11:g.179426660C>A	VUS	1 lab	db039f6c5e
5:82817653 VCAN G>A	5	82817653	82817653	G	A	VCAN	c.3528G>A	NM_004385.4	NP_004376.2:p.(Glu1176=)	NC_000005.9:g.82817653G>A	(Likely) benign	1 lab	db055013e7
14:101348537 RTL1 C>T	14	101348537	101348537	C	T	RTL1	c.2589G>A	NM_001134888.2	NP_001128360.1:p.(Ala863=)	NC_000014.8:g.101348537C>T	(Likely) benign	1 lab	db062c1f29
X:106110034 TBC1D8B G>A	X	106110034	106110034	G	A	TBC1D8B	c.2670G>A	NM_017752.2	NP_060222.2:p.(Met890Ile)	NC_000023.10:g.106110034G>A	(Likely) benign	1 lab	db070d136e
2:27676962 IFT172 C>A	2	27676962	27676962	C	A	IFT172	c.3598G>T	NM_015662.2	NP_056477.1:p.(Ala1200Ser)	NC_000002.11:g.27676962C>A	VUS	1 lab	db081b54b6
4:17506024 QDPR G>A	4	17506024	17506024	G	A	QDPR	c.273C>T	NM_000320.2	NP_000311.2:p.(Ala91=)	NC_000004.11:g.17506024G>A	(Likely) benign	1 lab	db083fe2db
2:218762686 TNS1 C>A	2	218762686	218762686	C	A	TNS1	c.3G>T	NM_022648.5	NP_072174.3:p.(Met1?)	NC_000002.11:g.218762686C>A	VUS	1 lab	db0e983427
X:108906563 ACSL4 T>C	X	108906563	108906563	T	C	ACSL4	c.1582A>G	NM_022977.2	NP_075266.1:p.(Met528Val)	NC_000023.10:g.108906563T>C	VUS	1 lab	db0f4232f2
19:8670133 ADAMTS10 C>T	19	8670133	8670133	C	T	ADAMTS10	c.199G>A	NM_030957.3	NP_112219.3:p.(Gly67Ser)	NC_000019.9:g.8670133C>T	(Likely) benign	1 lab	db1019bb1b
19:13084285 DAND5 G>T	19	13084285	13084285	G	T	DAND5	c.407G>T	NM_152654.2	NP_689867.1:p.(Gly136Val)	NC_000019.9:g.13084285G>T	VUS	1 lab	db108d1fa0
3:123345784 MYLK G>A	3	123345784	123345784	G	A	MYLK	c.5119C>T	NM_053025.3	NP_444253.3:p.(Arg1707Cys)	NC_000003.11:g.123345784G>A	VUS	1 lab	db1175fd9c
6:32062932 TNXB A>C	6	32062932	32062932	A	C	TNXB	c.2279T>G	NM_019105.6	NP_061978.6:p.(Leu760Trp)	NC_000006.11:g.32062932A>C	VUS	1 lab	db12e55604
X:144905394 SLITRK2 G>A	X	144905394	144905394	G	A	SLITRK2	c.1451G>A	NM_032539.4	NP_115928.1:p.(Arg484Gln)	NC_000023.10:g.144905394G>A	VUS	1 lab	db1310981b
5:171833291 SH3PXD2B G>T	5	171833291	171833291	G	T	SH3PXD2B	c.222C>A	NM_001017995.2	NP_001017995.1:p.(Pro74=)	NC_000005.9:g.171833291G>T	(Likely) benign	1 lab	db135ff229
17:61681996 TACO1 T>C	17	61681996	61681996	T	C	TACO1	c.383T>C	NM_016360.3	NP_057444.2:p.(Met128Thr)	NC_000017.10:g.61681996T>C	(Likely) benign	1 lab	db156e5fe6
17:80040983 FASN C>T	17	80040983	80040983	C	T	FASN	c.5574G>A	NM_004104.5	NP_004095.4:p.(Ala1858=)	NC_000017.10:g.80040983C>T	(Likely) benign	1 lab	db170b1c0a
1:22188288 HSPG2 C>G	1	22188288	22188288	C	G	HSPG2	c.4920G>C	NM_001291860.1	NP_001278789.1:p.(Thr1640=)	NC_000001.10:g.22188288C>G	(Likely) benign	1 lab	db1753eae2
19:4859906 PLIN3 C>T	19	4859906	4859906	C	T	PLIN3	c.197G>A	NM_005817.4	NP_005808.3:p.(Gly66Glu)	NC_000019.9:g.4859906C>T	VUS	1 lab	db1b2cb8ba
9:117168844 WHRN G>C	9	117168844	117168844	G	C	WHRN	c.2027C>G	NM_015404.3	NP_056219.3:p.(Pro676Arg)	NC_000009.11:g.117168844G>C	VUS	1 lab	db1c1d6b7a
16:89357144 ANKRD11 T>G	16	89357144	89357144	T	G	ANKRD11	c.490A>C	NM_001256182.1	NP_001243111.1:p.(Arg164=)	NC_000016.9:g.89357144T>G	(Likely) benign	1 lab	db1cbf0c87
1:150525550 ADAMTSL4 T>A	1	150525550	150525550	T	A	ADAMTSL4	c.255T>A	NM_001288608.1	NP_001275537.1:p.(Pro85=)	NC_000001.10:g.150525550T>A	(Likely) benign	1 lab	db1f953835
X:23398263 PTCHD1 G>A	X	23398263	23398263	G	A	PTCHD1	c.907G>A	NM_173495.2	NP_775766.2:p.(Gly303Arg)	NC_000023.10:g.23398263G>A	(Likely) pathogenic	1 lab	db215a8c21
6:31827674 NEU1 C>T	6	31827674	31827674	C	T	NEU1	c.1070G>A	NM_000434.3	NP_000425.1:p.(Arg357Gln)	NC_000006.11:g.31827674C>T	(Likely) benign	1 lab	db22a91f92
X:154225342 F8 C>T	X	154225342	154225342	C	T	F8	c.294G>A	NM_000132.3	NP_000123.1:p.(Glu98=)	NC_000023.10:g.154225342C>T	(Likely) benign	1 lab	db2348ac7b
1:75036839 ERICH3 C>G	1	75036839	75036839	C	G	ERICH3	c.4555G>C	NM_001002912.5	NP_001002912.4:p.(Glu1519Gln)	NC_000001.10:g.75036839C>G	VUS	1 lab	db2381b59a
2:149221388 MBD5 A>G	2	149221388	149221388	A	G	MBD5	c.297A>G	NM_018328.4	NP_060798.2:p.(Leu99=)	NC_000002.11:g.149221388A>G	(Likely) benign	1 lab	db24b4e82d
9:138649162 KCNT1 C>T	9	138649162	138649162	C	T	KCNT1	c.694C>T	NM_020822.2	NP_065873.2:p.(Arg232Trp)	NC_000009.11:g.138649162C>T	VUS	1 lab	db251875cc
12:88524150 CEP290 A>C	12	88524150	88524150	A	C	CEP290	c.564T>G	NM_025114.3	NP_079390.3:p.(Asp188Glu)	NC_000012.11:g.88524150A>C	VUS	1 lab	db253db64a
X:69249397 EDA G>A	X	69249397	69249397	G	A	EDA	c.741+9G>A	NM_001399.4	NP_001390.1:p.?	NC_000023.10:g.69249397G>A	(Likely) benign	1 lab	db2732b6e6
1:228552740 OBSCN G>A	1	228552740	228552740	G	A	OBSCN	c.21771G>A	NM_001271223.2	NP_001258152.2:p.(Glu7257=)	NC_000001.10:g.228552740G>A	(Likely) benign	1 lab	db29e2dda4
2:179423143 TTN C>T	2	179423143	179423143	C	T	TTN	c.87043G>A	NM_001267550.1	NP_001254479.1:p.(Val29015Met)	NC_000002.11:g.179423143C>T	VUS	1 lab	db2a0af337
5:1214142 SLC6A19 C>T	5	1214142	1214142	C	T	SLC6A19	c.849C>T	NM_001003841.2	NP_001003841.1:p.(Phe283=)	NC_000005.9:g.1214142C>T	(Likely) benign	1 lab	db2a1a9ee6
1:19638320 AKR7A2 C>T	1	19638320	19638320	C	T	AKR7A2	c.298+1G>A	NM_003689.3	NP_003680.2:p.?	NC_000001.10:g.19638320C>T	VUS	1 lab	db2b9a3d24
10:288050 ZMYND11 C>T	10	288050	288050	C	T	ZMYND11	c.870C>T	NM_001330057.1	NP_001316986.1:p.(Asp290=)	NC_000010.10:g.288050C>T	(Likely) benign	1 lab	db2e1c3b30
19:42848706 MEGF8 C>T	19	42848706	42848706	C	T	MEGF8	c.1902C>T	NM_001271938.2	NP_001258867.1:p.(Cys634=)	NC_000019.9:g.42848706C>T	(Likely) benign	1 lab	db2e8ba9b9
9:79888290 VPS13A A>T	9	79888290	79888290	A	T	VPS13A	c.2512+10A>T	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79888290A>T	(Likely) benign	1 lab	db309da4b7
X:17744914 NHS C>T	X	17744914	17744914	C	T	NHS	c.2688C>T	NM_001291867.1	NP_001278796.1:p.(Asn896=)	NC_000023.10:g.17744914C>T	(Likely) benign	1 lab	db317e2be9
11:722697 EPS8L2 G>C	11	722697	722697	G	C	EPS8L2	c.1233G>C	NM_022772.3	NP_073609.2:p.(Gln411His)	NC_000011.9:g.722697G>C	(Likely) benign	1 lab	db345dd66a
9:404957 DOCK8 A>G	9	404957	404957	A	G	DOCK8	c.3274A>G	NM_203447.3	NP_982272.2:p.(Met1092Val)	NC_000009.11:g.404957A>G	(Likely) benign	1 lab	db3548abb6
X:74598997 ZDHHC15 G>A	X	74598997	74598997	G	A	ZDHHC15	c.1004C>T	NM_144969.2	NP_659406.1:p.(Thr335Met)	NC_000023.10:g.74598997G>A	(Likely) benign	1 lab	db3734dd14
16:89703755 DPEP1 G>A	16	89703755	89703755	G	A	DPEP1	c.735G>A	NM_004413.3	NP_004404.1:p.(Arg245=)	NC_000016.9:g.89703755G>A	(Likely) benign	1 lab	db37599e34
7:92146890 PEX1 A>G	7	92146890	92146890	A	G	PEX1	c.315T>C	NM_001282678.1	NP_001269607.1:p.(His105=)	NC_000007.13:g.92146890A>G	(Likely) benign	1 lab	db37c239d7
X:57358082 FAAH2 C>T	X	57358082	57358082	C	T	FAAH2	c.464C>T	NM_174912.3	NP_777572.2:p.(Thr155Ile)	NC_000023.10:g.57358082C>T	(Likely) benign	1 lab	db39d36d4b
1:22211317 HSPG2 C>T	1	22211317	22211317	C	T	HSPG2	c.1450G>A	NM_001291860.1	NP_001278789.1:p.(Ala484Thr)	NC_000001.10:g.22211317C>T	(Likely) benign	1 lab	db3acb70e3
17:76510934 DNAH17 C>T	17	76510934	76510934	C	T	DNAH17	c.4035G>A	NM_173628.3	NP_775899.3:p.(Thr1345=)	NC_000017.10:g.76510934C>T	(Likely) benign	1 lab	db3b07f683
20:39991293 EMILIN3 G>C	20	39991293	39991293	G	C	EMILIN3	c.916C>G	NM_052846.2	NP_443078.1:p.(Arg306Gly)	NC_000020.10:g.39991293G>C	(Likely) benign	1 lab	db3c965c00
X:32715978 DMD T>C	X	32715978	32715978	T	C	DMD	c.591+9A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32715978T>C	(Likely) benign	1 lab	db3ce2478d
Y:6114346 TSPY2 G>T	Y	6114346	6114346	G	T	TSPY2	c.37G>T	NM_022573.2	NP_072095.2:p.(Glu13Ter)	NC_000024.9:g.6114346G>T	VUS	1 lab	db3f552d5e
14:68252669 ZFYVE26 G>A	14	68252669	68252669	G	A	ZFYVE26	c.3210C>T	NM_015346.3	NP_056161.2:p.(Pro1070=)	NC_000014.8:g.68252669G>A	(Likely) benign	1 lab	db41e7dc20
14:91739660 CCDC88C G>T	14	91739660	91739660	G	T	CCDC88C	c.5396C>A	NM_001080414.3	NP_001073883.2:p.(Ala1799Asp)	NC_000014.8:g.91739660G>T	(Likely) benign	1 lab	db43145a10
14:102881114 TECPR2 A>G	14	102881114	102881114	A	G	TECPR2	c.622A>G	NM_014844.4	NP_055659.2:p.(Thr208Ala)	NC_000014.8:g.102881114A>G	(Likely) benign	1 lab	db498d30db
7:21805227 DNAH11 GTCACACACACACA>GTCACACACACACA	7	21805227	21805240	GTCACACACACACA	GTCACACACACACA	DNAH11				NC_000007.13:g.21805227_21805240=	(Likely) benign	1 lab	db4a87f4d3
16:78458798 WWOX A>T	16	78458798	78458798	A	T	WWOX	c.637A>T	NM_016373.3	NP_057457.1:p.(Thr213Ser)	NC_000016.9:g.78458798A>T	VUS	1 lab	db4f7d63a6
6:44397531 CDC5L C>T	6	44397531	44397531	C	T	CDC5L	c.1975C>T	NM_001253.4	NP_001244.1:p.(Gln659Ter)	NC_000006.11:g.44397531C>T	VUS	1 lab	db5178dee5
X:53265568 IQSEC2 G>A	X	53265568	53265568	G	A	IQSEC2	c.3387C>T	NM_001111125.2	NP_001104595.1:p.(Tyr1129=)	NC_000023.10:g.53265568G>A	(Likely) benign	1 lab	db52ef562a
11:31812275 PAX6 G>A	11	31812275	31812275	G	A	PAX6	c.758C>T	NM_001310160.1	NP_001297089.1:p.(Ser253Leu)	NC_000011.9:g.31812275G>A	VUS	1 lab	db53888c86
10:100189264 HPS1 G>C	10	100189264	100189264	G	C	HPS1	c.885C>G	NM_001322490.1	NP_001309419.1:p.(Ile295Met)	NC_000010.10:g.100189264G>C	VUS	1 lab	db53bb0539
3:122003578 CASR A>G	3	122003578	122003578	A	G	CASR	c.2807A>G	NM_001178065.1	NP_001171536.1:p.(Gln936Arg)	NC_000003.11:g.122003578A>G	VUS	1 lab	db53ccc7a1
3:66460631 LRIG1 T>C	3	66460631	66460631	T	C	LRIG1	c.857A>G	NM_015541.2	NP_056356.2:p.(His286Arg)	NC_000003.11:g.66460631T>C	(Likely) benign	1 lab	db5410767f
20:10622507 JAG1 AC>A	20	10622507	10622508	AC	A	JAG1	c.2605del	NM_000214.3	NP_000205.1:p.(Val869Ter)	NC_000020.10:g.10622508del	(Likely) pathogenic	1 lab	db5514c5d4
12:53189593 KRT3 T>C	12	53189593	53189593	T	C	KRT3	c.234A>G	NM_057088.2	NP_476429.2:p.(Gly78=)	NC_000012.11:g.53189593T>C	(Likely) benign	1 lab	db57806c1c
X:147063058 FMR1NB G>A	X	147063058	147063058	G	A	FMR1NB	c.136G>A	NM_152578.2	NP_689791.1:p.(Glu46Lys)	NC_000023.10:g.147063058G>A	(Likely) benign	1 lab	db57829218
1:152282438 FLG T>G	1	152282438	152282438	T	G	FLG	c.4924A>C	NM_002016.1	NP_002007.1:p.(Ser1642Arg)	NC_000001.10:g.152282438T>G	VUS	1 lab	db58398251
1:6488381 ESPN C>T	1	6488381	6488381	C	T	ESPN	c.390C>T	NM_031475.3	NP_113663.2:p.(Asp130=)	NC_000001.10:g.6488381C>T	(Likely) benign	1 lab	db5ad319c3
13:52508952 ATP7B G>C	13	52508952	52508952	G	C	ATP7B	c.4338C>G	NM_000053.3	NP_000044.2:p.(Asp1446Glu)	NC_000013.10:g.52508952G>C	(Likely) benign	1 lab	db5b1376d1
1:7792504 CAMTA1 C>T	1	7792504	7792504	C	T	CAMTA1	c.2915-4C>T	NM_015215.3	NP_056030.1:p.?	NC_000001.10:g.7792504C>T	(Likely) benign	1 lab	db5b373a71
16:2131654 TSC2 CA>C	16	2131654	2131656	CA	C	TSC2	c.3671del	NM_000548.5	NP_000539.2:p.(Asn1224ThrfsTer101)	NC_000016.9:g.2131656del	(Likely) pathogenic	1 lab	db5ce09bdf
1:19561721 EMC1 A>G	1	19561721	19561721	A	G	EMC1	c.1335T>C	NM_015047.2	NP_055862.1:p.(Arg445=)	NC_000001.10:g.19561721A>G	(Likely) benign	1 lab	db5d2d759c
18:6978233 LAMA1 C>T	18	6978233	6978233	C	T	LAMA1	c.6152G>A	NM_005559.3	NP_005550.2:p.(Arg2051Gln)	NC_000018.9:g.6978233C>T	(Likely) benign	1 lab	db5de17706
4:120213532 USP53 A>G	4	120213532	120213532	A	G	USP53	c.2388A>G	NM_019050.2	NP_061923.2:p.(Ser796=)	NC_000004.11:g.120213532A>G	(Likely) benign	1 lab	db5e59043e
13:25946418 ATP8A2 C>G	13	25946418	25946418	C	G	ATP8A2	c.68C>G	NM_016529.5	NP_057613.4:p.(Ser23Trp)	NC_000013.10:g.25946418C>G	VUS	1 lab	db5ee59448
7:103341428 RELN A>G	7	103341428	103341428	A	G	RELN	c.831T>C	NM_173054.2	NP_774959.1:p.(Tyr277=)	NC_000007.13:g.103341428A>G	(Likely) benign	1 lab	db60dd968e
6:130415459 L3MBTL3 G>A	6	130415459	130415459	G	A	L3MBTL3	c.1683G>A	NM_032438.3	NP_115814.1:p.(Pro561=)	NC_000006.11:g.130415459G>A	VUS	1 lab	db62cf5dee
20:10389273 MKKS T>C	20	10389273	10389273	T	C	MKKS	c.1161+3A>G	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10389273T>C	(Likely) benign	1 lab	db62fafc3e
11:47354740 MYBPC3 C>T	11	47354740	47354740	C	T	MYBPC3	c.3330+5G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354740C>T	(Likely) pathogenic	1 lab	db63b9aa7c
7:30496382 NOD1 G>A	7	30496382	30496382	G	A	NOD1	c.156C>T	NM_006092.3	NP_006083.1:p.(Ala52=)	NC_000007.13:g.30496382G>A	(Likely) benign	1 lab	db63e3b7b7
16:31123565 BCKDK G>A	16	31123565	31123565	G	A	BCKDK	c.1218G>A	NM_005881.3	NP_005872.2:p.(Arg406=)	NC_000016.9:g.31123565G>A	(Likely) benign	1 lab	db63e5fbb6
4:88533518 DSPP G>T	4	88533518	88533518	G	T	DSPP	c.180G>T	NM_014208.3	NP_055023.2:p.(Leu60=)	NC_000004.11:g.88533518G>T	(Likely) benign	1 lab	db67321b38
2:179435083 TTN A>C	2	179435083	179435083	A	C	TTN	c.75776T>G	NM_001267550.1	NP_001254479.1:p.(Val25259Gly)	NC_000002.11:g.179435083A>C	VUS	1 lab	db679295da
X:70349623 MED12 G>A	X	70349623	70349623	G	A	MED12	c.3785G>A	NM_005120.2	NP_005111.2:p.(Arg1262Lys)	NC_000023.10:g.70349623G>A	VUS	1 lab	db697e5b0a
17:7755271 KDM6B C>T	17	7755271	7755271	C	T	KDM6B	c.4168C>T	NM_001080424.2	NP_001073893.1:p.(His1390Tyr)	NC_000017.10:g.7755271C>T	VUS	1 lab	db6d2aae2c
9:139264966 CARD9 G>A	9	139264966	139264966	G	A	CARD9	c.807+8C>T	NM_052813.4	NP_434700.2:p.?	NC_000009.11:g.139264966G>A	(Likely) benign	1 lab	db710791f1
7:138556013 KIAA1549 G>A	7	138556013	138556013	G	A	KIAA1549	c.4441C>T	NM_001164665.1	NP_001158137.1:p.(Arg1481Trp)	NC_000007.13:g.138556013G>A	VUS	1 lab	db7230bffc
3:183858328 EIF2B5 C>G	3	183858328	183858328	C	G	EIF2B5	c.966C>G	NM_003907.3	NP_003898.2:p.(Thr322=)	NC_000003.11:g.183858328C>G	(Likely) benign	1 lab	db7233f8a9
7:75051387 POM121C C>A	7	75051387	75051387	C	A	POM121C	c.2148G>T	NM_001099415.3	NP_001092885.2:p.(Gly716=)	NC_000007.13:g.75051387C>A	(Likely) benign	1 lab	db728fea6e
5:137519045 KIF20A T>C	5	137519045	137519045	T	C	KIF20A	c.1020T>C	NM_005733.3	NP_005724.1:p.(Tyr340=)	NC_000005.9:g.137519045T>C	(Likely) benign	1 lab	db7324fc33
X:72900796 CHIC1 C>T	X	72900796	72900796	C	T	CHIC1	c.631C>T	NM_001039840.3	NP_001034929.2:p.(Leu211=)	NC_000023.10:g.72900796C>T	(Likely) benign	1 lab	db7377cb71
7:82579758 PCLO A>C	7	82579758	82579758	A	C	PCLO	c.10146T>G	NM_033026.5	NP_149015.2:p.(Thr3382=)	NC_000007.13:g.82579758A>C	(Likely) benign	1 lab	db78049451
3:47039179 NBEAL2 C>G	3	47039179	47039179	C	G	NBEAL2	c.2953C>G	NM_015175.2	NP_055990.1:p.(Arg985Gly)	NC_000003.11:g.47039179C>G	(Likely) benign	1 lab	db79c7e6ea
X:153052277 IDH3G A>G	X	153052277	153052277	A	G	IDH3G	c.903T>C	NM_174869.2	NP_777358.1:p.(His301=)	NC_000023.10:g.153052277A>G	(Likely) benign	1 lab	db79ec81f1
15:74328031 PML C>T	15	74328031	74328031	C	T	PML	c.2229C>T	NM_033239.2	NP_150242.1:p.(Ser743=)	NC_000015.9:g.74328031C>T	(Likely) benign	1 lab	db7c0bff5b
1:235866250 LYST C>T	1	235866250	235866250	C	T	LYST	c.10171G>A	NM_001301365.1	NP_001288294.1:p.(Val3391Ile)	NC_000001.10:g.235866250C>T	VUS	1 lab	db7cac926b
17:4923780 KIF1C T>A	17	4923780	4923780	T	A	KIF1C	c.1751-7T>A	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4923780T>A	(Likely) benign	1 lab	db7d25d5d1
5:1294658 TERT A>C	5	1294658	1294658	A	C	TERT	c.343T>G	NM_198253.2	NP_937983.2:p.(Phe115Val)	NC_000005.9:g.1294658A>C	(Likely) benign	1 lab	db7d503cb7
13:111092115 COL4A2 T>C	13	111092115	111092115	T	C	COL4A2	c.913-21T>C	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111092115T>C	(Likely) benign	1 lab	db7f1a5b45
X:110406205 PAK3 G>A	X	110406205	110406205	G	A	PAK3	c.639G>A	NM_001128168.2	NP_001121640.1:p.(Glu213=)	NC_000023.10:g.110406205G>A	(Likely) benign	1 lab	db7f39891a
18:6993682 LAMA1 C>A	18	6993682	6993682	C	A	LAMA1	c.4966G>T	NM_005559.3	NP_005550.2:p.(Asp1656Tyr)	NC_000018.9:g.6993682C>A	VUS	1 lab	db80a6506a
1:235969597 LYST C>G	1	235969597	235969597	C	G	LYST	c.2839G>C	NM_001301365.1	NP_001288294.1:p.(Glu947Gln)	NC_000001.10:g.235969597C>G	VUS	1 lab	db826b0a12
6:112528233 LAMA4 G>T	6	112528233	112528233	G	T	LAMA4	c.411C>A	NM_001105206.2	NP_001098676.2:p.(Pro137=)	NC_000006.11:g.112528233G>T	(Likely) benign	1 lab	db8df53fd1
5:73048797 ARHGEF28 T>A	5	73048797	73048797	T	A	ARHGEF28	c.245T>A	NM_001080479.2	NP_001073948.2:p.(Val82Glu)	NC_000005.9:g.73048797T>A	VUS	1 lab	db8353f185
14:105414617 AHNAK2 C>T	14	105414617	105414617	C	T	AHNAK2	c.7171G>A	NM_138420.3	NP_612429.2:p.(Val2391Met)	NC_000014.8:g.105414617C>T	(Likely) benign	1 lab	db83d41908
11:66617727 PC A>G	11	66617727	66617727	A	G	PC	c.2682T>C	NM_001040716.1	NP_001035806.1:p.(Tyr894=)	NC_000011.9:g.66617727A>G	(Likely) benign	1 lab	db84f5eb42
16:2161306 PKD1 G>A	16	2161306	2161306	G	A	PKD1	c.3862C>T	NM_001009944.2	NP_001009944.2:p.(His1288Tyr)	NC_000016.9:g.2161306G>A	(Likely) benign	1 lab	db8624580f
13:115091510 CHAMP1 G>A	13	115091510	115091510	G	A	CHAMP1	c.2193G>A	NM_032436.3	NP_115812.1:p.(Lys731=)	NC_000013.10:g.115091510G>A	(Likely) benign	1 lab	db86ba1765
8:144946484 EPPK1 C>A	8	144946484	144946484	C	A	EPPK1				NC_000008.10:g.144946484C>A	VUS	1 lab	db8811413b
6:157099417 ARID1B GCAGCAGCAA>G	6	157099417	157099434	GCAGCAGCAA	G	ARID1B	c.612_620del	NM_001374828.1	NP_001361757.1:p.(Gln212_Gln214del)	NC_000006.11:g.157099426_157099434del	(Likely) benign	1 lab	db88798637
12:112613615 HECTD4 A>G	12	112613615	112613615	A	G	HECTD4	c.11117T>C	NM_001109662.3	NP_001103132.3:p.(Ile3706Thr)	NC_000012.11:g.112613615A>G	VUS	1 lab	db8949596d
8:145009203 PLEC G>A	8	145009203	145009203	G	A	PLEC	c.1212C>T	NM_201380.3	NP_958782.1:p.(Asp404=)	NC_000008.10:g.145009203G>A	(Likely) benign	1 lab	db8afb8cd8
X:135757200 ARHGEF6 G>A	X	135757200	135757200	G	A	ARHGEF6	c.2001C>T	NM_004840.2	NP_004831.1:p.(Cys667=)	NC_000023.10:g.135757200G>A	(Likely) benign	1 lab	db8c5d057b
16:1634386 IFT140 G>T	16	1634386	1634386	G	T	IFT140	c.1191C>A	NM_014714.3	NP_055529.2:p.(Ser397Arg)	NC_000016.9:g.1634386G>T	(Likely) benign	1 lab	db8e8e0a63
16:709112 WDR90 C>A	16	709112	709112	C	A	WDR90	c.3038C>A	NM_145294.5	NP_660337.3:p.(Pro1013Gln)	NC_000016.9:g.709112C>A	(Likely) benign	1 lab	db8f8148a9
15:89860067 POLG T>C	15	89860067	89860067	T	C	POLG	c.3644-9A>G	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89860067T>C	(Likely) benign	1 lab	db9126a64e
3:30733046 TGFBR2 G>A	3	30733046	30733046	G	A	TGFBR2	c.1734G>A	NM_001024847.2	NP_001020018.1:p.(Ser578=)	NC_000003.11:g.30733046G>A	(Likely) benign	1 lab	db924e0d3f
3:148877978 HPS3 C>T	3	148877978	148877978	C	T	HPS3	c.2018C>T	NM_032383.4	NP_115759.2:p.(Ser673Leu)	NC_000003.11:g.148877978C>T	VUS	1 lab	db93f3674e
3:52399021 DNAH1 T>C	3	52399021	52399021	T	C	DNAH1	c.5504T>C	NM_015512.4	NP_056327.4:p.(Leu1835Pro)	NC_000003.11:g.52399021T>C	VUS	1 lab	db9415316b
11:103116000 DYNC2H1 T>C	11	103116000	103116000	T	C	DYNC2H1	c.9960T>C	NM_001080463.1	NP_001073932.1:p.(Ala3320=)	NC_000011.9:g.103116000T>C	(Likely) benign	1 lab	db94512028
1:17318282 ATP13A2 G>A	1	17318282	17318282	G	A	ATP13A2	c.2183C>T	NM_001141973.2	NP_001135445.1:p.(Thr728Met)	NC_000001.10:g.17318282G>A	VUS	1 lab	db988350c9
5:149749105 TCOF1 G>A	5	149749105	149749105	G	A	TCOF1	c.579G>A	NM_001135243.1	NP_001128715.1:p.(Ala193=)	NC_000005.9:g.149749105G>A	(Likely) benign	1 lab	db98ed115d
11:85366742 TMEM126A C>G	11	85366742	85366742	C	G	TMEM126A	c.385C>G	NM_032273.3	NP_115649.1:p.(Leu129Val)	NC_000011.9:g.85366742C>G	VUS	1 lab	db99809b1f
X:128718312 OCRL C>T	X	128718312	128718312	C	T	OCRL	c.2119-9C>T	NM_001318784.1	NP_001305713.1:p.?	NC_000023.10:g.128718312C>T	(Likely) benign	1 lab	db9a83628c
2:202632039 ALS2 T>C	2	202632039	202632039	T	C	ALS2	c.88A>G	NM_020919.3	NP_065970.2:p.(Ile30Val)	NC_000002.11:g.202632039T>C	(Likely) benign	1 lab	db9b1859c1
17:29528131 NF1 T>G	17	29528131	29528131	T	G	NF1	c.1139T>G	NM_000267.3	NP_000258.1:p.(Leu380Arg)	NC_000017.10:g.29528131T>G	VUS	1 lab	db9b6f6387
X:54783750 ITIH6 G>T	X	54783750	54783750	G	T	ITIH6	c.2757C>A	NM_198510.2	NP_940912.1:p.(Thr919=)	NC_000023.10:g.54783750G>T	(Likely) benign	1 lab	db9c7e1268
5:814887 ZDHHC11 T>C	5	814887	814887	T	C	ZDHHC11	c.1170A>G	NM_024786.2	NP_079062.1:p.(Ile390Met)	NC_000005.9:g.814887T>C	(Likely) benign	1 lab	db9ca0b13a
13:20717197 GJA3 G>A	13	20717197	20717197	G	A	GJA3	c.231C>T	NM_021954.3	NP_068773.2:p.(Phe77=)	NC_000013.10:g.20717197G>A	(Likely) benign	1 lab	db9caaae82
11:76872027 MYO7A C>T	11	76872027	76872027	C	T	MYO7A	c.1209C>T	NM_000260.3	NP_000251.3:p.(Tyr403=)	NC_000011.9:g.76872027C>T	(Likely) benign	1 lab	db9e1f5a58
X:153174538 ARHGAP4 C>T	X	153174538	153174538	C	T	ARHGAP4	c.2713G>A	NM_001164741.1	NP_001158213.1:p.(Val905Met)	NC_000023.10:g.153174538C>T	VUS	1 lab	db9e20dc4c
2:182413527 CERKL A>G	2	182413527	182413527	A	G	CERKL	c.1031T>C	NM_001030311.2	NP_001025482.1:p.(Phe344Ser)	NC_000002.11:g.182413527A>G	VUS	1 lab	db9e4dc5b9
X:119668369 CUL4B T>C	X	119668369	119668369	T	C	CUL4B	c.2287A>G	NM_003588.3	NP_003579.3:p.(Ser763Gly)	NC_000023.10:g.119668369T>C	VUS	1 lab	dba12541f9
19:3979363 EEF2 C>T	19	3979363	3979363	C	T	EEF2	c.1677G>A	NM_001961.3	NP_001952.1:p.(Lys559=)	NC_000019.9:g.3979363C>T	(Likely) benign	1 lab	dba40c8226
1:201063112 CACNA1S A>G	1	201063112	201063112	A	G	CACNA1S	c.296T>C	NM_000069.2	NP_000060.2:p.(Ile99Thr)	NC_000001.10:g.201063112A>G	VUS	1 lab	dba46a16ec
X:47774769 ZNF81 G>A	X	47774769	47774769	G	A	ZNF81	c.724G>A	NM_007137.3	NP_009068.2:p.(Gly242Arg)	NC_000023.10:g.47774769G>A	VUS	1 lab	dba6425ecb
4:169433075 PALLD TG>T	4	169433075	169433076	TG	T	PALLD	c.421del	NM_001166108.2	NP_001159580.1:p.(Glu141LysfsTer12)	NC_000004.11:g.169433076del	VUS	1 lab	dba8cfa497
X:152686405 ZFP92 C>A	X	152686405	152686405	C	A	ZFP92	c.570C>A	NM_001136273.1	NP_001129745.1:p.(Arg190=)	NC_000023.10:g.152686405C>A	(Likely) benign	1 lab	dba8ead785
13:111119384 COL4A2 C>T	13	111119384	111119384	C	T	COL4A2	c.2039-3C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111119384C>T	(Likely) benign	1 lab	dba8faba25
5:68715666 MARVELD2 G>A	5	68715666	68715666	G	A	MARVELD2	c.454G>A	NM_001038603.2	NP_001033692.2:p.(Ala152Thr)	NC_000005.9:g.68715666G>A	VUS	1 lab	dbab4fcb66
22:50658162 TUBGCP6 G>A	22	50658162	50658162	G	A	TUBGCP6	c.4226C>T	NM_020461.3	NP_065194.2:p.(Ala1409Val)	NC_000022.10:g.50658162G>A	(Likely) benign	1 lab	dbad9eded1
11:76867144 MYO7A G>A	11	76867144	76867144	G	A	MYO7A	c.470+7G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76867144G>A	(Likely) benign	1 lab	dbaf614ef5
2:189853308 COL3A1 C>T	2	189853308	189853308	C	T	COL3A1	c.583-8C>T	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189853308C>T	(Likely) benign	1 lab	dbb0346e7a
16:2138518 TSC2 T>C	16	2138518	2138518	T	C	TSC2	c.5331T>C	NM_000548.3	NP_000539.2:p.(Pro1777=)	NC_000016.9:g.2138518T>C	(Likely) benign	1 lab	dbb261d9fc
11:63974817 FERMT3 C>T	11	63974817	63974817	C	T	FERMT3	c.-14-6C>T	NM_178443.2	NP_848537.1:p.?	NC_000011.9:g.63974817C>T	VUS	1 lab	dbb298404b
9:139943392 ENTPD2 C>A	9	139943392	139943392	C	A	ENTPD2	c.1284+1G>T	NM_203468.2	NP_982293.1:p.?	NC_000009.11:g.139943392C>A	VUS	1 lab	dbb2d28af3
X:153037696 PLXNB3 T>C	X	153037696	153037696	T	C	PLXNB3	c.2798T>C	NM_001163257.1	NP_001156729.1:p.(Ile933Thr)	NC_000023.10:g.153037696T>C	VUS	1 lab	dbb2e693cc
4:2242246 HAUS3 T>G	4	2242246	2242246	T	G	HAUS3	c.428A>C	NM_001303143.1	NP_001290072.1:p.(Glu143Ala)	NC_000004.11:g.2242246T>G	(Likely) benign	1 lab	dbb3ec19cc
3:47042797 NBEAL2 C>T	3	47042797	47042797	C	T	NBEAL2	c.4513C>T	NM_015175.2	NP_055990.1:p.(Leu1505=)	NC_000003.11:g.47042797C>T	(Likely) benign	1 lab	dbb436b937
14:76045745 FLVCR2 C>T	14	76045745	76045745	C	T	FLVCR2	c.430C>T	NM_017791.2	NP_060261.2:p.(Leu144=)	NC_000014.8:g.76045745C>T	(Likely) benign	1 lab	dbb513d6e8
12:110019346 MVK G>A	12	110019346	110019346	G	A	MVK	c.518G>A	NM_000431.2	NP_000422.1:p.(Cys173Tyr)	NC_000012.11:g.110019346G>A	(Likely) benign	1 lab	dbb525d26f
1:235577939 TBCE TGGAGTTTATAACGGCAGAGCTGACTTTTATGGTTTTATTAAGGTTCAGAATTGAAATACCCATGACTGTATATGGATGCTCATGACTTTGCTCCTAAACTGGTTTATGGTTCCACAGAAACGGAATCAAAATCTGAGGAATCCAAGAATTATTTAGGGAAATTAAAATTCTTATGTTAGCACAGGATTGGTAGATTTATCCAGTTTGCAATTGAAATATTTATTGGCCCATTATTACTATTCACATCATATTATCTCGTGTTGACTAAGTAACCAAGGCTGACGTTTGGGTTCTTTTCTATTTCATGGTGATGATGGTAAGTTGGGAATGGAAACAGCAGTCTGAATTGTTCCCTATGCCGTGGAGCGTGCTGGTGCCGTCTGTTAATAGTAGGGAGTAGTTCTCACCTCGGGCTGCACATCTTCATCACCTGGGGAGCTGTGGAACATGCGGCATCCTTGGTCCCATCCCAGATCTGCTCAATCACAATTTTGGGATATGGGCTCTAATGCATTTTATTGTATTGTATTGTATTGTATTTTTATTTTTATACAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGGCTCAAGTGATCCTTGGCTTCCCAAAGCACTGGGGATTACAGGGATTAAGCACCCGGCCTTAAAATAATGCCCTTTAAAACTGCTGCACAAGAACATTCTCTTTTCTCTGAAACTGTATATTGTGACTTTGTACAAGGAGGCTTTCTAGTCATTCCAGTGAACTGCTTGAATCAAAGAGAGAGAAAGATAGTATTTACACAAAACCAGTCATGGCTGCACAAGAACTGGCCAGGCCTTGCAGCTTCCTACTGTGGTGAGTGACTTGGACGAGGCATCTGGGTAAGGACCCCTGGTGGCCACTGTGAGGATAAATTTGTGGCCACTTGGAGGCCTGCAATATATTTTCTTTCAGTCTCTAAAAGAATTAAGCTATAGTTCTGTCCAAAGTAAATTTCTTTACTATCTTTTGTTATTGTTGTTATTAATAAAAGTGCACATGGGGACAATGTGGAAAATAAATACATTTCTTGGTACATCTACTCTTTAGCATACATGGCCCCCATTAAAAAAAACTCAGAATAAATCAAGAGTTTTAGAAAAAGGAACAAATGGACTGTTCTTTATAAAACAAGATACCTTTATTGTTGAGAATTTAGAAATTACAGATTGAACAAAAAAGTATCATGATTAATGCCACCACTTAGATATAAGTATCGTAAACGGGCTGGGTGCGGTGGCTTATGCTTGTCATCTTAGCACTTTTGGAGGCCGAGGCAGTTGGATCACTTAAGGCCAGGAATTTGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAACAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCGAGATCATGCCGCTGCACTCCAGCCTGGGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGACGTAACTATCATGAACAGTTTTTACTGTTTACCCTACTGATTTACTTGGATTTAAAGAACTACATGCTTCATAGGGTTAGAGTTCTTTGCTTTATTTTTTCCCATTTAAAATACAAATAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAAAAAATAAATAAATAAATGCAAAAATTAGCTGGGTGTAGTGGTGCGTGCCTATAGTCCCAACTATTTGGGAAGCTGAGGTGGGAAGATCACCTGAACCCAGAAGGTCAAGGCTGCAGTGAGACATGATTGCACCACTGCACTCCAGCCTAGGTGACATAGTGAGACCTTGTCTCAAATGACACACAAACCAAAAAAAAAAAACCCCAAATATTTACATATCTCTTACCCAAAGGAAGCATTTTTTTAATTGGTTAATCTCTTTCTGAGAATATTAACAAATTGCAAATGGATTTTCGTCCCCTAGTTTATGAACAGCTATGTAACTCATGAATTTTTCTGTAAATGACCCTACTACTTGAGTATCATTGCATTTAATCATTAGCTAGTGTCTTTCTTGATTGAAAAGGTAAAATTTTAGAGATTCTGGAGTAATCTCATATGTTGGCTGGAGATTAGTCAATTCAGAAATTATGAGACAGCTTGGTGGAATGCAGCCAGTGTTGGAGTTAGGCTGGGTTCAGCCGCCAGCTAAGGCACTTTTGGCTCTGACAGAAGTTAGAGATAGCTGCTTATTGTTTCTAAGCCTCAGTTTCCTCAGTTACAACATAAAACCTAAGATATAAGTGCTGTTGTGAATAACAAATGAGATCCTACAATTAATGATAGCTGTCAGTTAGGAGTTGAAACCTCTACTTTAAGCCATTGTCTTATCTCATCAATAAAATCCAGCTGACCAGCTTTGAGATCGTACCACTAAGAAGAGACTTACTCAATAAAGGAATCAAAAACAAATTAAAAAATCCATTATGTATGGTTTCTCTTGGAGATGGCTTTGGCTCTGGAGTGATGCTTGGACTGAGATCTGAGTCCTCATGCTTAGTGCCAAGTTGACCTGGCAAAGAAGGCTATTTTAAATTTTAGGGGGAAGGAGCGACATCTGTCGGACACAGTGCAAACTACAGTTTGAAGTAGTTGCCTGTTTCATGAGATTCCTGTAGTTCTTTTCAATGATGTCATAAGCCTACAAAGCTGGCTTTTGGGCAATTGCCGCGATAAAACACAAGTATTTATGTACATCTATCATGCATCAATAGAAATATTTGTTTTATAAAAAAGCAAGTATCTCTTAAATCAGTGTGGAACTGGAAATGGAATTGGTGGCGTCCAGTCTGATTCCAGGGTTTGGGAAGTTGGGCAGTGCCCAGCAGACACTGAGTTGACAGGACATAAGTAATGATTAAGTTGTTTGGCCCTAACTACGTACTTAATTGGAACTGTGAGGTATTTATTTTGGCCTAAGTACCATGAAAAAAATTACTGAAACCCTAAGGACCGTGTGGCCTGAGAAAGTTTGGGACCCTCTAACCTTGAATTCTGCTGCTGCCTTTTGTACCCTGGTTTTTCTTTCTTTTTTTTGTTGTTGTTTCTTGTTTTTTGTTTTGAGACAGAGTTTCACTCTTGTTACCCAGGCTGGAGCGCAATGGTGTGATCTCGGCTCACTGCAACCTCCACCCTCCCGGGTTCAAGCGATTCCCCTGTCTCAGCCTCCTGAGTAGTCGGGATTACAGGTGCCCCCCACTATGCCAGGCTAATTTTTGTTATTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACTGCCCCCGGCCATGTATTTGTTCTTCTGTGACTGGCTTATTTCACCTAGCATAATACACTCAAGGTTCATCCACATTGCGGCATATGTCAGAATTTCCTTCCTTTTTTTTAAGTTCGCACAATATTGCATTGTATATGTGTGCCACGTTTTGTTTATCCTTTCATTTGTTGATGGACACTTGGGTTGCTTCCACCTCTTGACTACCAGGAATAATGCTGCTGTGAACTTGTGCATATACCGTGGCCTTTTAGAGATGTGAAGTCTGAGGCACAGAGGTGCTAATTCACTTCTCCAAAGCCAAAGGAGATGGTGGAATTGGGATTTGAACCCAGGTGGTCTGGTTCCAGATTCTGTGTTCTTAGACATTATGTATGCGGATTCTTTTCATGAATAGAAAGCACAAGATTCTCTACACTTAACAAATGGCTGCCGGAAGTATCTGGTCATGCTGAAGCTGGGTGCGCTCTCTAGGAAGTACCTTAGGGAGGCTTTTACATGTGAGTGCGAGAAGCACTCCATAGCATGTACTTCTGCGTGGTTGGGAACAATCTAAATGTCAGCAGAAGAGTATGTACATTCCTTGTGGTCTGTTCATATAACAAACGCTGTAAGGTGTGAAGATGAATGTCCTGGAGCTCCATGTGTCACCGTAGTGAAATCTCACCACTGAACAATAGACTGTTGAGGAAAAAGTCAGGTGCAGAAGGCTCTGCGGAGTAGAATACCATTTATATCAAGTTTCAGAATATTAAAAAATGCTGTAATTGTTTAGGGATATGGAAATATATGGTAAAAATATTAAGAAATGCTTAAGATTAAATAAACACCAAATGTAGTATAAGGCCCTGGGGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTAGCAAGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGGAGAGGTTGCAGTGAGTCTAGATTGTGCCACTGCACTCCAGCCTGGGCAACACAACGAGACTCTGGCTAAAAAGCAAAAAGAAAAGTTTACCTCTGGGAGTAGAGGGAGAATTGTGTTTGGAGAGGGCCCCAGAGGACTTCAGTTGCATTTGTAATATTTGTAGTGCTCTTTTTCTTTTTTGTAATGCTTTATTTCTTAATTTGGGTGGTGGTTACTGGTATTTGTATATTATTTTTGGTACCCTTTTATATGTCTGAAATGTGTTTAATTTTTTAAAGGGCCAGTGGATAGCATACGTGCTTATGTATCCATGTGAACTCTGTTTTTCATGCA>T	1	235577939	235582787	TGGAGTTTATAACGGCAGAGCTGACTTTTATGGTTTTATTAAGGTTCAGAATTGAAATACCCATGACTGTATATGGATGCTCATGACTTTGCTCCTAAACTGGTTTATGGTTCCACAGAAACGGAATCAAAATCTGAGGAATCCAAGAATTATTTAGGGAAATTAAAATTCTTATGTTAGCACAGGATTGGTAGATTTATCCAGTTTGCAATTGAAATATTTATTGGCCCATTATTACTATTCACATCATATTATCTCGTGTTGACTAAGTAACCAAGGCTGACGTTTGGGTTCTTTTCTATTTCATGGTGATGATGGTAAGTTGGGAATGGAAACAGCAGTCTGAATTGTTCCCTATGCCGTGGAGCGTGCTGGTGCCGTCTGTTAATAGTAGGGAGTAGTTCTCACCTCGGGCTGCACATCTTCATCACCTGGGGAGCTGTGGAACATGCGGCATCCTTGGTCCCATCCCAGATCTGCTCAATCACAATTTTGGGATATGGGCTCTAATGCATTTTATTGTATTGTATTGTATTGTATTTTTATTTTTATACAGACAGGATCTTGCTATGTTGCCCAGGCTGGTCTTGAACTCTTGGGCTCAAGTGATCCTTGGCTTCCCAAAGCACTGGGGATTACAGGGATTAAGCACCCGGCCTTAAAATAATGCCCTTTAAAACTGCTGCACAAGAACATTCTCTTTTCTCTGAAACTGTATATTGTGACTTTGTACAAGGAGGCTTTCTAGTCATTCCAGTGAACTGCTTGAATCAAAGAGAGAGAAAGATAGTATTTACACAAAACCAGTCATGGCTGCACAAGAACTGGCCAGGCCTTGCAGCTTCCTACTGTGGTGAGTGACTTGGACGAGGCATCTGGGTAAGGACCCCTGGTGGCCACTGTGAGGATAAATTTGTGGCCACTTGGAGGCCTGCAATATATTTTCTTTCAGTCTCTAAAAGAATTAAGCTATAGTTCTGTCCAAAGTAAATTTCTTTACTATCTTTTGTTATTGTTGTTATTAATAAAAGTGCACATGGGGACAATGTGGAAAATAAATACATTTCTTGGTACATCTACTCTTTAGCATACATGGCCCCCATTAAAAAAAACTCAGAATAAATCAAGAGTTTTAGAAAAAGGAACAAATGGACTGTTCTTTATAAAACAAGATACCTTTATTGTTGAGAATTTAGAAATTACAGATTGAACAAAAAAGTATCATGATTAATGCCACCACTTAGATATAAGTATCGTAAACGGGCTGGGTGCGGTGGCTTATGCTTGTCATCTTAGCACTTTTGGAGGCCGAGGCAGTTGGATCACTTAAGGCCAGGAATTTGAGACTAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAACAATTAGCTGGGTGTGGTGGTACGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAGGTGGACGTTGCAGTGAGCCGAGATCATGCCGCTGCACTCCAGCCTGGGTGACAGAATGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAAAGACGTAACTATCATGAACAGTTTTTACTGTTTACCCTACTGATTTACTTGGATTTAAAGAACTACATGCTTCATAGGGTTAGAGTTCTTTGCTTTATTTTTTCCCATTTAAAATACAAATAGCCTGGGCAACATGGCAAAACCCTGTCTCTACAAAAAAAATAAATAAATAAATGCAAAAATTAGCTGGGTGTAGTGGTGCGTGCCTATAGTCCCAACTATTTGGGAAGCTGAGGTGGGAAGATCACCTGAACCCAGAAGGTCAAGGCTGCAGTGAGACATGATTGCACCACTGCACTCCAGCCTAGGTGACATAGTGAGACCTTGTCTCAAATGACACACAAACCAAAAAAAAAAAACCCCAAATATTTACATATCTCTTACCCAAAGGAAGCATTTTTTTAATTGGTTAATCTCTTTCTGAGAATATTAACAAATTGCAAATGGATTTTCGTCCCCTAGTTTATGAACAGCTATGTAACTCATGAATTTTTCTGTAAATGACCCTACTACTTGAGTATCATTGCATTTAATCATTAGCTAGTGTCTTTCTTGATTGAAAAGGTAAAATTTTAGAGATTCTGGAGTAATCTCATATGTTGGCTGGAGATTAGTCAATTCAGAAATTATGAGACAGCTTGGTGGAATGCAGCCAGTGTTGGAGTTAGGCTGGGTTCAGCCGCCAGCTAAGGCACTTTTGGCTCTGACAGAAGTTAGAGATAGCTGCTTATTGTTTCTAAGCCTCAGTTTCCTCAGTTACAACATAAAACCTAAGATATAAGTGCTGTTGTGAATAACAAATGAGATCCTACAATTAATGATAGCTGTCAGTTAGGAGTTGAAACCTCTACTTTAAGCCATTGTCTTATCTCATCAATAAAATCCAGCTGACCAGCTTTGAGATCGTACCACTAAGAAGAGACTTACTCAATAAAGGAATCAAAAACAAATTAAAAAATCCATTATGTATGGTTTCTCTTGGAGATGGCTTTGGCTCTGGAGTGATGCTTGGACTGAGATCTGAGTCCTCATGCTTAGTGCCAAGTTGACCTGGCAAAGAAGGCTATTTTAAATTTTAGGGGGAAGGAGCGACATCTGTCGGACACAGTGCAAACTACAGTTTGAAGTAGTTGCCTGTTTCATGAGATTCCTGTAGTTCTTTTCAATGATGTCATAAGCCTACAAAGCTGGCTTTTGGGCAATTGCCGCGATAAAACACAAGTATTTATGTACATCTATCATGCATCAATAGAAATATTTGTTTTATAAAAAAGCAAGTATCTCTTAAATCAGTGTGGAACTGGAAATGGAATTGGTGGCGTCCAGTCTGATTCCAGGGTTTGGGAAGTTGGGCAGTGCCCAGCAGACACTGAGTTGACAGGACATAAGTAATGATTAAGTTGTTTGGCCCTAACTACGTACTTAATTGGAACTGTGAGGTATTTATTTTGGCCTAAGTACCATGAAAAAAATTACTGAAACCCTAAGGACCGTGTGGCCTGAGAAAGTTTGGGACCCTCTAACCTTGAATTCTGCTGCTGCCTTTTGTACCCTGGTTTTTCTTTCTTTTTTTTGTTGTTGTTTCTTGTTTTTTGTTTTGAGACAGAGTTTCACTCTTGTTACCCAGGCTGGAGCGCAATGGTGTGATCTCGGCTCACTGCAACCTCCACCCTCCCGGGTTCAAGCGATTCCCCTGTCTCAGCCTCCTGAGTAGTCGGGATTACAGGTGCCCCCCACTATGCCAGGCTAATTTTTGTTATTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCCCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATAAGCCACTGCCCCCGGCCATGTATTTGTTCTTCTGTGACTGGCTTATTTCACCTAGCATAATACACTCAAGGTTCATCCACATTGCGGCATATGTCAGAATTTCCTTCCTTTTTTTTAAGTTCGCACAATATTGCATTGTATATGTGTGCCACGTTTTGTTTATCCTTTCATTTGTTGATGGACACTTGGGTTGCTTCCACCTCTTGACTACCAGGAATAATGCTGCTGTGAACTTGTGCATATACCGTGGCCTTTTAGAGATGTGAAGTCTGAGGCACAGAGGTGCTAATTCACTTCTCCAAAGCCAAAGGAGATGGTGGAATTGGGATTTGAACCCAGGTGGTCTGGTTCCAGATTCTGTGTTCTTAGACATTATGTATGCGGATTCTTTTCATGAATAGAAAGCACAAGATTCTCTACACTTAACAAATGGCTGCCGGAAGTATCTGGTCATGCTGAAGCTGGGTGCGCTCTCTAGGAAGTACCTTAGGGAGGCTTTTACATGTGAGTGCGAGAAGCACTCCATAGCATGTACTTCTGCGTGGTTGGGAACAATCTAAATGTCAGCAGAAGAGTATGTACATTCCTTGTGGTCTGTTCATATAACAAACGCTGTAAGGTGTGAAGATGAATGTCCTGGAGCTCCATGTGTCACCGTAGTGAAATCTCACCACTGAACAATAGACTGTTGAGGAAAAAGTCAGGTGCAGAAGGCTCTGCGGAGTAGAATACCATTTATATCAAGTTTCAGAATATTAAAAAATGCTGTAATTGTTTAGGGATATGGAAATATATGGTAAAAATATTAAGAAATGCTTAAGATTAAATAAACACCAAATGTAGTATAAGGCCCTGGGGAGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTAGCAAGCGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACCTGAACCTGGGAGGGAGAGGTTGCAGTGAGTCTAGATTGTGCCACTGCACTCCAGCCTGGGCAACACAACGAGACTCTGGCTAAAAAGCAAAAAGAAAAGTTTACCTCTGGGAGTAGAGGGAGAATTGTGTTTGGAGAGGGCCCCAGAGGACTTCAGTTGCATTTGTAATATTTGTAGTGCTCTTTTTCTTTTTTGTAATGCTTTATTTCTTAATTTGGGTGGTGGTTACTGGTATTTGTATATTATTTTTGGTACCCTTTTATATGTCTGAAATGTGTTTAATTTTTTAAAGGGCCAGTGGATAGCATACGTGCTTATGTATCCATGTGAACTCTGTTTTTCATGCA	T	TBCE	c.371_372insGTAAGTG	NM_003193.5	NP_003184.1:p.(Ser124ArgfsTer2)	NC_000001.10:g.235577941_235582787del	VUS	1 lab	dbf3110b5c
19:42794472 CIC C>T	19	42794472	42794472	C	T	CIC	c.4279C>T	NM_001304815.1	NP_001291744.1:p.(Pro1427Ser)	NC_000019.9:g.42794472C>T	(Likely) benign	1 lab	dbb5847e28
20:34084552 CEP250 C>G	20	34084552	34084552	C	G	CEP250	c.3306+8C>G	NM_007186.5	NP_009117.2:p.?	NC_000020.10:g.34084552C>G	(Likely) benign	1 lab	dbb651e228
17:42942433 EFTUD2 C>T	17	42942433	42942433	C	T	EFTUD2	c.1150G>A	NM_001258353.1	NP_001245282.1:p.(Val384Ile)	NC_000017.10:g.42942433C>T	(Likely) benign	1 lab	dbb726197b
8:42297008 SLC20A2 C>T	8	42297008	42297008	C	T	SLC20A2	c.894G>A	NM_001257180.2	NP_001244109.1:p.(Ser298=)	NC_000008.10:g.42297008C>T	(Likely) benign	1 lab	dbb763b1f7
15:40897353 KNL1 A>G	15	40897353	40897353	A	G	KNL1	c.75+6A>G	NM_170589.4	NP_733468.3:p.?	NC_000015.9:g.40897353A>G	(Likely) benign	1 lab	dbb79c7714
10:26377198 MYO3A G>A	10	26377198	26377198	G	A	MYO3A	c.1426G>A	NM_017433.5	NP_059129.3:p.(Ala476Thr)	NC_000010.10:g.26377198G>A	VUS	1 lab	dbb7d852c2
2:241659214 KIF1A A>G	2	241659214	241659214	A	G	KIF1A	c.4998T>C	NM_001244008.1	NP_001230937.1:p.(Pro1666=)	NC_000002.11:g.241659214A>G	(Likely) benign	1 lab	dbb864e914
19:2114252 AP3D1 C>T	19	2114252	2114252	C	T	AP3D1	c.2473G>A	NM_001261826.3	NP_001248755.1:p.(Glu825Lys)	NC_000019.9:g.2114252C>T	VUS	1 lab	dbb90e5de6
X:114883876 PLS3 G>C	X	114883876	114883876	G	C	PLS3	c.1849G>C	NM_001282337.1	NP_001269266.1:p.(Val617Leu)	NC_000023.10:g.114883876G>C	(Likely) benign	1 lab	dbb9b2aa4e
2:163138910 IFIH1 CA>C	2	163138910	163138912	CA	C	IFIH1	c.1271del	NM_022168.4	NP_071451.2:p.(Leu424TrpfsTer35)	NC_000002.11:g.163138912del	VUS	1 lab	dbb9e6043c
X:119419550 TMEM255A A>T	X	119419550	119419550	A	T	TMEM255A	c.425T>A	NM_017938.3	NP_060408.3:p.(Val142Asp)	NC_000023.10:g.119419550A>T	VUS	1 lab	dbbc1ad481
13:26535736 ATP8A2 A>G	13	26535736	26535736	A	G	ATP8A2	c.3207A>G	NM_016529.5	NP_057613.4:p.(Ala1069=)	NC_000013.10:g.26535736A>G	(Likely) benign	1 lab	dbbd13cadc
17:29559849 NF1 T>C	17	29559849	29559849	T	C	NF1	c.3446T>C	NM_001042492.2	NP_001035957.1:p.(Met1149Thr)	NC_000017.10:g.29559849T>C	(Likely) pathogenic	1 lab	dbbeb95226
16:89259923 CDH15 C>G	16	89259923	89259923	C	G	CDH15	c.1901C>G	NM_004933.2	NP_004924.1:p.(Ser634Cys)	NC_000016.9:g.89259923C>G	VUS	1 lab	dbbeeb6d8c
2:202591927 ALS2 A>G	2	202591927	202591927	A	G	ALS2	c.2979+8T>C	NM_020919.3	NP_065970.2:p.?	NC_000002.11:g.202591927A>G	(Likely) benign	1 lab	dbc1971480
X:153009063 ABCD1 G>A	X	153009063	153009063	G	A	ABCD1	c.2112G>A	NM_000033.3	NP_000024.2:p.(Ala704=)	NC_000023.10:g.153009063G>A	(Likely) benign	1 lab	dbc32c6a52
3:52567566 NT5DC2 G>C	3	52567566	52567566	G	C	NT5DC2	c.188C>G	NM_001134231.2	NP_001127703.1:p.(Ala63Gly)	NC_000003.11:g.52567566G>C	(Likely) benign	1 lab	dbc3f97fd3
7:92140339 PEX1 A>G	7	92140339	92140339	A	G	PEX1	c.882T>C	NM_001282678.1	NP_001269607.1:p.(Ser294=)	NC_000007.13:g.92140339A>G	(Likely) benign	1 lab	dbc4802b7e
17:8785092 PIK3R5 C>T	17	8785092	8785092	C	T	PIK3R5	c.2299+13G>A	NM_014308.3	NP_055123.2:p.?	NC_000017.10:g.8785092C>T	(Likely) benign	1 lab	dbc6d0ab61
6:71003892 COL9A1 T>A	6	71003892	71003892	T	A	COL9A1	c.674A>T	NM_001851.4	NP_001842.3:p.(Asp225Val)	NC_000006.11:g.71003892T>A	VUS	1 lab	dbc7bfe934
19:49206550 FUT2 G>A	19	49206550	49206550	G	A	FUT2	c.337G>A	NM_000511.5	NP_000502.4:p.(Val113Met)	NC_000019.9:g.49206550G>A	VUS	1 lab	dbca86f2fa
18:7032140 LAMA1 T>C	18	7032140	7032140	T	C	LAMA1	c.2199A>G	NM_005559.3	NP_005550.2:p.(Ile733Met)	NC_000018.9:g.7032140T>C	VUS	1 lab	dbcbb5b5fa
X:152482142 MAGEA1 A>G	X	152482142	152482142	A	G	MAGEA1	c.869T>C	NM_004988.4	NP_004979.3:p.(Val290Ala)	NC_000023.10:g.152482142A>G	(Likely) benign	1 lab	dbcef6763d
10:69881529 MYPN A>G	10	69881529	69881529	A	G	MYPN	c.334A>G	NM_032578.3	NP_115967.2:p.(Ser112Gly)	NC_000010.10:g.69881529A>G	VUS	1 lab	dbcf573a12
16:2110795 TSC2 G>C	16	2110795	2110795	G	C	TSC2	c.1100G>C	NM_000548.3	NP_000539.2:p.(Arg367Pro)	NC_000016.9:g.2110795G>C	(Likely) pathogenic	1 lab	dbcfbf29fb
X:71350454 RTL5 C>T	X	71350454	71350454	C	T	RTL5	c.937G>A	NM_001024455.3	NP_001019626.1:p.(Val313Ile)	NC_000023.10:g.71350454C>T	(Likely) benign	1 lab	dbd0c2b7d5
15:28501145 HERC2 G>T	15	28501145	28501145	G	T	HERC2	c.2747-3C>A	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28501145G>T	VUS	1 lab	dbd1b8eeb5
3:69986999 MITF C>CA	3	69986999	69987001	C	CA	MITF	c.383dup	NM_198159.2	NP_937802.1:p.(Tyr129ValfsTer22)	NC_000003.11:g.69987001dup	(Likely) pathogenic	1 lab	dbd3aa6500
X:153133331 L1CAM G>A	X	153133331	153133331	G	A	L1CAM	c.1863C>T	NM_001278116.1	NP_001265045.1:p.(Ser621=)	NC_000023.10:g.153133331G>A	(Likely) benign	1 lab	dbd6cf563b
2:175978838 ATF2 T>C	2	175978838	175978838	T	C	ATF2	c.627-2A>G	NM_001256090.1	NP_001243019.1:p.?	NC_000002.11:g.175978838T>C	VUS	1 lab	dbd81af9b7
13:25671275 PABPC3 G>A	13	25671275	25671275	G	A	PABPC3	c.939G>A	NM_030979.2	NP_112241.2:p.(Ala313=)	NC_000013.10:g.25671275G>A	(Likely) benign	1 lab	dbdca40624
11:640098 DRD4 C>A	11	640098	640098	C	A	DRD4	c.849C>A	NM_000797.3	NP_000788.2:p.(Pro283=)	NC_000011.9:g.640098C>A	(Likely) benign	1 lab	dbde5cbe55
11:47364364 MYBPC3 G>A	11	47364364	47364364	G	A	MYBPC3	c.1457+17C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364364G>A	(Likely) benign	1 lab	dbe0b979a6
1:231830492 DISC1 C>T	1	231830492	231830492	C	T	DISC1	c.988C>T	NM_001164537.1	NP_001158009.1:p.(Leu330Phe)	NC_000001.10:g.231830492C>T	(Likely) benign	1 lab	dbe0c6bb76
4:183609367 TENM3 C>T	4	183609367	183609367	C	T	TENM3	c.2084C>T	NM_001080477.3	NP_001073946.1:p.(Thr695Met)	NC_000004.11:g.183609367C>T	(Likely) benign	1 lab	dbe2a27d67
6:31903830 C2 A>G	6	31903830	31903830	A	G	C2	c.893A>G	NM_001282458.1	NP_001269387.1:p.(Asn298Ser)	NC_000006.11:g.31903830A>G	(Likely) benign	1 lab	dbe2eb6b34
2:179499258 TTN T>C	2	179499258	179499258	T	C	TTN	c.42250A>G	NM_001267550.1	NP_001254479.1:p.(Ile14084Val)	NC_000002.11:g.179499258T>C	VUS	1 lab	dbe42f5746
8:10466200 RP1L1 G>C	8	10466200	10466200	G	C	RP1L1	c.5408C>G	NM_178857.5	NP_849188.4:p.(Thr1803Ser)	NC_000008.10:g.10466200G>C	VUS	1 lab	dbe4731e2c
X:53409507 SMC1A G>A	X	53409507	53409507	G	A	SMC1A	c.3139C>T	NM_001281463.1	NP_001268392.1:p.(Arg1047Cys)	NC_000023.10:g.53409507G>A	VUS	1 lab	dbe523b3b4
21:46888310 COL18A1 C>G	21	46888310	46888310	C	G	COL18A1	c.1506C>G	NM_130444.3	NP_569711.2:p.(Leu502=)	NC_000021.8:g.46888310C>G	(Likely) benign	1 lab	dbe7dc7220
2:240033319 HDAC4 G>A	2	240033319	240033319	G	A	HDAC4	c.1866C>T	NM_006037.3	NP_006028.2:p.(Gly622=)	NC_000002.11:g.240033319G>A	(Likely) benign	1 lab	dbe8501d23
1:235969333 LYST T>C	1	235969333	235969333	T	C	LYST	c.3103A>G	NM_001301365.1	NP_001288294.1:p.(Lys1035Glu)	NC_000001.10:g.235969333T>C	VUS	1 lab	dbe983f75e
2:150427649 MMADHC G>C	2	150427649	150427649	G	C	MMADHC	c.646C>G	NM_015702.2	NP_056517.1:p.(Arg216Gly)	NC_000002.11:g.150427649G>C	(Likely) benign	1 lab	dbea204e94
2:179664566 TTN TT>C	2	179664566	179664567	TT	C	TTN	c.654_655delinsG	NM_001267550.1	NP_001254479.1:p.(Thr219ProfsTer23)	NC_000002.11:g.179664566_179664567delinsC	(Likely) pathogenic	1 lab	dbeae3c6e5
5:118814559 HSD17B4 A>G	5	118814559	118814559	A	G	HSD17B4	c.540A>G	NM_001199291.2	NP_001186220.1:p.(Ile180Met)	NC_000005.9:g.118814559A>G	VUS	1 lab	dbeb7cf490
2:198508999 RFTN2 G>C	2	198508999	198508999	G	C	RFTN2	c.324-3C>G	NM_144629.2	NP_653230.2:p.?	NC_000002.11:g.198508999G>C	VUS	1 lab	dbed228943
1:156132837 SEMA4A A>C	1	156132837	156132837	A	C	SEMA4A	c.1086A>C	NM_001193300.1	NP_001180229.1:p.(Ser362=)	NC_000001.10:g.156132837A>C	(Likely) benign	1 lab	dbf28a6b67
18:50734186 DCC C>T	18	50734186	50734186	C	T	DCC	c.1860C>T	NM_005215.3	NP_005206.2:p.(Asp620=)	NC_000018.9:g.50734186C>T	(Likely) benign	1 lab	dbf2afc0c0
17:73512686 TSEN54 G>T	17	73512686	73512686	G	T	TSEN54	c.45G>T	NM_207346.2	NP_997229.2:p.(Gly15=)	NC_000017.10:g.73512686G>T	(Likely) benign	1 lab	dbf4afec07
17:78090846 GAA C>T	17	78090846	78090846	C	T	GAA	c.2269C>T	NM_000152.3	NP_000143.2:p.(Gln757Ter)	NC_000017.10:g.78090846C>T	(Likely) pathogenic	1 lab	dbf58efd73
1:220387236 RAB3GAP2 A>AT	1	220387236	220387237	A	AT	RAB3GAP2	c.265dup	NM_012414.3	NP_036546.2:p.(Met89AsnfsTer19)	NC_000001.10:g.220387237dup	(Likely) pathogenic	1 lab	dbf81b69af
2:179588352 TTN C>T	2	179588352	179588352	C	T	TTN	c.21475G>A	NM_001267550.1	NP_001254479.1:p.(Val7159Ile)	NC_000002.11:g.179588352C>T	VUS	1 lab	dbf8604875
3:49139327 QARS1 T>C	3	49139327	49139327	T	C	QARS1	c.637A>G	NM_005051.2	NP_005042.1:p.(Thr213Ala)	NC_000003.11:g.49139327T>C	(Likely) benign	1 lab	dbf8a0ab4a
14:102457870 DYNC1H1 G>A	14	102457870	102457870	G	A	DYNC1H1	c.2875G>A	NM_001376.4	NP_001367.2:p.(Val959Ile)	NC_000014.8:g.102457870G>A	VUS	1 lab	dbf9686f4b
8:145742451 RECQL4 G>T	8	145742451	145742451	G	T	RECQL4	c.337C>A	NM_004260.3	NP_004251.3:p.(Leu113Met)	NC_000008.10:g.145742451G>T	VUS	1 lab	dbfa8b0e4c
20:57429345 GNAS C>A	20	57429345	57429345	C	A	GNAS	c.838C>A	NM_001077490.2	NP_001070958.1:p.(Pro280Thr)	NC_000020.10:g.57429345C>A	VUS	1 lab	dbfbf4eccb
X:13780473 OFD1 A>G	X	13780473	13780473	A	G	OFD1	c.1978A>G	NM_001330210.1	NP_001317139.1:p.(Arg660Gly)	NC_000023.10:g.13780473A>G	(Likely) benign	1 lab	dbfd52cf4b
15:66857051 LCTL G>A	15	66857051	66857051	G	A	LCTL	c.245C>T	NM_207338.3	NP_997221.2:p.(Thr82Met)	NC_000015.9:g.66857051G>A	VUS	1 lab	dbfdc41e17
12:48373356 COL2A1 G>A	12	48373356	48373356	G	A	COL2A1	c.2680-9C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48373356G>A	(Likely) benign	1 lab	dbff3f2ec2
15:28467249 HERC2 T>A	15	28467249	28467249	T	A	HERC2	c.5577A>T	NM_004667.5	NP_004658.3:p.(Ser1859=)	NC_000015.9:g.28467249T>A	(Likely) benign	1 lab	dbff85fefb
X:78011418 LPAR4 A>T	X	78011418	78011418	A	T	LPAR4	c.1052A>T	NM_005296.2	NP_005287.1:p.(Glu351Val)	NC_000023.10:g.78011418A>T	(Likely) benign	1 lab	dc006eb0c8
7:21789863 DNAH11 G>A	7	21789863	21789863	G	A	DNAH11				NC_000007.13:g.21789863G>A	VUS	1 lab	dc0136adf7
16:11272287 CLEC16A G>A	16	11272287	11272287	G	A	CLEC16A	c.2902G>A	NM_015226.2	NP_056041.1:p.(Val968Met)	NC_000016.9:g.11272287G>A	(Likely) benign	1 lab	dc0264da4b
16:84199444 DNAAF1 C>G	16	84199444	84199444	C	G	DNAAF1	c.919C>G	NM_178452.5	NP_848547.4:p.(Gln307Glu)	NC_000016.9:g.84199444C>G	(Likely) benign	1 lab	dc029c5636
16:2137880 TSC2 TC>T	16	2137880	2137882	TC	T	TSC2	c.5008del	NM_000548.5	NP_000539.2:p.(His1670ThrfsTer2)	NC_000016.9:g.2137882del	(Likely) pathogenic	1 lab	dc0427fad8
17:29422329 NF1 T>A	17	29422329	29422329	T	A	NF1	c.2T>A	NM_000267.3	NP_000258.1:p.(Met1?)	NC_000017.10:g.29422329T>A	VUS	1 lab	dc052c7a05
1:110152686 GNAT2 G>A	1	110152686	110152686	G	A	GNAT2	c.279C>T	NM_005272.3	NP_005263.1:p.(Ile93=)	NC_000001.10:g.110152686G>A	(Likely) benign	1 lab	dc056f0135
13:32912926 BRCA2 A>G	13	32912926	32912926	A	G	BRCA2				NC_000013.10:g.32912926A>G	(Likely) benign	1 lab	07832c4537
17:1630102 WDR81 A>G	17	1630102	1630102	A	G	WDR81	c.1849A>G	NM_001163809.1	NP_001157281.1:p.(Thr617Ala)	NC_000017.10:g.1630102A>G	(Likely) benign	1 lab	dc0740bca2
16:67663291 CTCF T>C	16	67663291	67663291	T	C	CTCF	c.1702-10T>C	NM_006565.3	NP_006556.1:p.?	NC_000016.9:g.67663291T>C	(Likely) benign	1 lab	dc0870c3ae
10:102753066 TWNK G>A	10	102753066	102753066	G	A	TWNK	c.1854G>A	NM_021830.4	NP_068602.2:p.(Pro618=)	NC_000010.10:g.102753066G>A	(Likely) benign	1 lab	dc0958d05d
9:13183548 MPDZ T>C	9	13183548	13183548	T	C	MPDZ	c.2518A>G	NM_001330637.1	NP_001317566.1:p.(Thr840Ala)	NC_000009.11:g.13183548T>C	(Likely) benign	1 lab	dc099174d9
14:90455369 TDP1 G>A	14	90455369	90455369	G	A	TDP1	c.1252G>A	NM_018319.3	NP_060789.2:p.(Glu418Lys)	NC_000014.8:g.90455369G>A	(Likely) benign	1 lab	dc09a5e868
4:6292968 WFS1 G>A	4	6292968	6292968	G	A	WFS1	c.505G>A	NM_006005.3	NP_005996.2:p.(Glu169Lys)	NC_000004.11:g.6292968G>A	VUS	1 lab	dc0cdaecf7
1:237693775 RYR2 T>G	1	237693775	237693775	T	G	RYR2	c.2871T>G	NM_001035.2	NP_001026.2:p.(Ala957=)	NC_000001.10:g.237693775T>G	(Likely) benign	1 lab	dc0ebff7ca
X:70384062 NLGN3 G>A	X	70384062	70384062	G	A	NLGN3	c.797G>A	NM_181303.1	NP_851820.1:p.(Arg266His)	NC_000023.10:g.70384062G>A	VUS	1 lab	dc0f390695
19:49002564 LMTK3 G>C	19	49002564	49002564	G	C	LMTK3	c.1849C>G	NM_001080434.1	NP_001073903.1:p.(Leu617Val)	NC_000019.9:g.49002564G>C	(Likely) benign	1 lab	dc110b933e
X:19378922 MAP3K15 G>A	X	19378922	19378922	G	A	MAP3K15	c.3887C>T	NM_001001671.3	NP_001001671.3:p.(Ala1296Val)	NC_000023.10:g.19378922G>A	VUS	1 lab	dc13c14bd5
22:32871100 FBXO7 C>T	22	32871100	32871100	C	T	FBXO7	c.111C>T	NM_012179.3	NP_036311.3:p.(Thr37=)	NC_000022.10:g.32871100C>T	(Likely) benign	1 lab	dc13dcc1da
12:31244656 DDX11 G>A	12	31244656	31244656	G	A	DDX11	c.1093G>A	NM_030653.3	NP_085911.2:p.(Val365Met)	NC_000012.11:g.31244656G>A	VUS	1 lab	dc15040bca
11:17663701 OTOG G>A	11	17663701	17663701	G	A	OTOG	c.8359G>A	NM_001277269.1	NP_001264198.1:p.(Ala2787Thr)	NC_000011.9:g.17663701G>A	(Likely) benign	1 lab	dc1553c06a
17:7359954 CHRNB1 G>A	17	7359954	7359954	G	A	CHRNB1	c.1418G>A	NM_000747.2	NP_000738.2:p.(Trp473Ter)	NC_000017.10:g.7359954G>A	(Likely) pathogenic	1 lab	dc15e97fb4
5:131705984 SLC22A5 AG>A	5	131705984	131705985	AG	A	SLC22A5	c.321del	NM_003060.4	NP_003051.1:p.(Gln107HisfsTer23)	NC_000005.9:g.131705985del	(Likely) pathogenic	1 lab	dc166ea0ff
17:7495378 FXR2 GTC>G	17	7495378	7495385	GTC	G	FXR2	c.1927-137_1927-136del	NM_004860.4	NP_004851.2:p.?	NC_000017.10:g.7495384_7495385del	(Likely) benign	1 lab	dc17f66d31
12:53189743 KRT3 C>T	12	53189743	53189743	C	T	KRT3	c.84G>A	NM_057088.2	NP_476429.2:p.(Arg28=)	NC_000012.11:g.53189743C>T	(Likely) benign	1 lab	dc192cc3a1
1:161596072 FCGR3B T>C	1	161596072	161596072	T	C	FCGR3B	c.440A>G	NM_001244753.2	NP_001231682.2:p.(Asp147Gly)	NC_000001.10:g.161596072T>C	(Likely) benign	1 lab	dc193fa88d
X:107304713 VSIG1 T>G	X	107304713	107304713	T	G	VSIG1	c.269T>G	NM_001170553.1	NP_001164024.1:p.(Leu90Arg)	NC_000023.10:g.107304713T>G	VUS	1 lab	dc1d36c3d7
13:115090526 CHAMP1 G>C	13	115090526	115090526	G	C	CHAMP1	c.1209G>C	NM_032436.3	NP_115812.1:p.(Thr403=)	NC_000013.10:g.115090526G>C	(Likely) benign	1 lab	dc1d42800c
3:147131159 ZIC1 C>T	3	147131159	147131159	C	T	ZIC1	c.1165C>T	NM_003412.3	NP_003403.2:p.(Gln389Ter)	NC_000003.11:g.147131159C>T	(Likely) pathogenic	1 lab	dc1dbb63c0
6:65596607 EYS C>A	6	65596607	65596607	C	A	EYS	c.2975G>T	NM_001292009.1	NP_001278938.1:p.(Cys992Phe)	NC_000006.11:g.65596607C>A	VUS	1 lab	dc1e13eb59
9:133914325 LAMC3 C>T	9	133914325	133914325	C	T	LAMC3	c.1051C>T	NM_006059.3	NP_006050.3:p.(Arg351Cys)	NC_000009.11:g.133914325C>T	VUS	1 lab	dc1e2f39ce
19:55665439 TNNI3 G>A	19	55665439	55665439	G	A	TNNI3	c.508C>T	NM_000363.4	NP_000354.4:p.(Arg170Trp)	NC_000019.9:g.55665439G>A	(Likely) pathogenic	1 lab	dc1eecba72
5:178413434 GRM6 G>A	5	178413434	178413434	G	A	GRM6	c.1821C>T	NM_000843.4	NP_000834.2:p.(Phe607=)	NC_000005.9:g.178413434G>A	(Likely) benign	1 lab	dc1efab965
16:1498408 CLCN7 G>A	16	1498408	1498408	G	A	CLCN7	c.1961C>T	NM_001287.5	NP_001278.1:p.(Thr654Met)	NC_000016.9:g.1498408G>A	(Likely) benign	1 lab	dc1fa13d9b
16:2105407 TSC2 CTT>C	16	2105407	2105410	CTT	C	TSC2	c.488_489del	NM_000548.5	NP_000539.2:p.(Phe163CysfsTer25)	NC_000016.9:g.2105409_2105410del	(Likely) pathogenic	1 lab	dc203b2d94
8:113237068 CSMD3 C>T	8	113237068	113237068	C	T	CSMD3	c.11056G>A	NM_198123.2	NP_937756.1:p.(Ala3686Thr)	NC_000008.10:g.113237068C>T	(Likely) benign	1 lab	dc20d1c5ee
8:32617714 NRG1 G>A	8	32617714	32617714	G	A	NRG1	c.1077-4G>A	NM_013956.4	NP_039250.2:p.?	NC_000008.10:g.32617714G>A	(Likely) benign	1 lab	dc2639fe3d
10:129901148 MKI67 T>C	10	129901148	129901148	T	C	MKI67	c.8956A>G	NM_002417.4	NP_002408.3:p.(Lys2986Glu)	NC_000010.10:g.129901148T>C	(Likely) benign	1 lab	dc26c4a322
19:38385276 WDR87 C>T	19	38385276	38385276	C	T	WDR87	c.1067G>A	NM_001291088.1	NP_001278017.1:p.(Ser356Asn)	NC_000019.9:g.38385276C>T	(Likely) benign	1 lab	dc2732fd0f
1:244595856 ADSS2 C>A	1	244595856	244595856	C	A	ADSS2	c.397G>T	NM_001126.5	NP_001117.2:p.(Ala133Ser)	NC_000001.10:g.244595856C>A	VUS	1 lab	dc279851ff
1:57395180 C8B G>A	1	57395180	57395180	G	A	C8B	c.1517C>T	NM_001278543.1	NP_001265472.1:p.(Ser506Phe)	NC_000001.10:g.57395180G>A	VUS	1 lab	dc2a916679
2:220430133 OBSL1 C>T	2	220430133	220430133	C	T	OBSL1	c.2238G>A	NM_015311.2	NP_056126.1:p.(Pro746=)	NC_000002.11:g.220430133C>T	(Likely) benign	1 lab	dc2acb1d62
19:11098412 SMARCA4 C>A	19	11098412	11098412	C	A	SMARCA4	c.930C>A	NM_001128844.1	NP_001122316.1:p.(Arg310=)	NC_000019.9:g.11098412C>A	(Likely) benign	1 lab	dc2bd9ca1b
1:235922378 LYST C>T	1	235922378	235922378	C	T	LYST	c.6775G>A	NM_000081.3	NP_000072.2:p.(Val2259Ile)	NC_000001.10:g.235922378C>T	VUS	1 lab	dc2c470873
17:72287205 DNAI2 C>T	17	72287205	72287205	C	T	DNAI2	c.657C>T	NM_001353167.1	NP_001340096.1:p.(Leu219=)	NC_000017.10:g.72287205C>T	(Likely) benign	1 lab	dc2d2948e6
22:21224749 SNAP29 A>G	22	21224749	21224749	A	G	SNAP29	c.362A>G	NM_004782.3	NP_004773.1:p.(Asn121Ser)	NC_000022.10:g.21224749A>G	VUS	1 lab	dc2d372d68
X:117959268 ZCCHC12 T>G	X	117959268	117959268	T	G	ZCCHC12	c.61T>G	NM_173798.3	NP_776159.1:p.(Trp21Gly)	NC_000023.10:g.117959268T>G	VUS	1 lab	dc2e5561a2
9:139405228 NOTCH1 A>G	9	139405228	139405228	A	G	NOTCH1	c.2617T>C	NM_017617.5	NP_060087.3:p.(Cys873Arg)	NC_000009.11:g.139405228A>G	VUS	1 lab	dc2f2399d0
7:20687173 ABCB5 A>T	7	20687173	20687173	A	T	ABCB5	c.997A>T	NM_001163941.1	NP_001157413.1:p.(Ile333Phe)	NC_000007.13:g.20687173A>T	VUS	1 lab	dc2f46e18a
12:49435133 KMT2D G>A	12	49435133	49435133	G	A	KMT2D	c.6420C>T	NM_003482.3	NP_003473.3:p.(Asp2140=)	NC_000012.11:g.49435133G>A	(Likely) benign	1 lab	dc3001ba5f
19:3976549 EEF2 C>T	19	3976549	3976549	C	T	EEF2	c.*3G>A	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3976549C>T	(Likely) benign	1 lab	dc3016cd94
17:74075358 ZACN T>C	17	74075358	74075358	T	C	ZACN	c.13T>C	NM_180990.3	NP_851321.2:p.(Trp5Arg)	NC_000017.10:g.74075358T>C	(Likely) benign	1 lab	dc3064fb67
1:226019599 EPHX1 T>C	1	226019599	226019599	T	C	EPHX1	c.303T>C	NM_001291163.1	NP_001278092.1:p.(Phe101=)	NC_000001.10:g.226019599T>C	(Likely) benign	1 lab	dc32d58c4b
11:48158754 PTPRJ A>G	11	48158754	48158754	A	G	PTPRJ	c.2073A>G	NM_002843.3	NP_002834.3:p.(Ser691=)	NC_000011.9:g.48158754A>G	(Likely) benign	1 lab	dc33fb51f7
5:176308955 HK3 C>T	5	176308955	176308955	C	T	HK3	c.2227G>A	NM_002115.2	NP_002106.2:p.(Gly743Ser)	NC_000005.9:g.176308955C>T	VUS	1 lab	dc34efc133
13:100634783 ZIC2 C>G	13	100634783	100634783	C	G	ZIC2	c.465C>G	NM_007129.4	NP_009060.2:p.(Gly155=)	NC_000013.10:g.100634783C>G	(Likely) benign	1 lab	dc38b95cd9
17:75478236 SEPTIN9 G>A	17	75478236	75478236	G	A	SEPTIN9	c.678G>A	NM_006640.4	NP_006631.2:p.(Ala226=)	NC_000017.10:g.75478236G>A	(Likely) benign	1 lab	dc38df8e81
8:10470667 RP1L1 C>T	8	10470667	10470667	C	T	RP1L1	c.941G>A	NM_178857.5	NP_849188.4:p.(Arg314His)	NC_000008.10:g.10470667C>T	VUS	1 lab	dc3bdc2c7c
10:29776116 SVIL A>G	10	29776116	29776116	A	G	SVIL	c.4461T>C	NM_021738.2	NP_068506.2:p.(Phe1487=)	NC_000010.10:g.29776116A>G	(Likely) benign	1 lab	dc3c883f5a
9:140001848 MAN1B1 C>T	9	140001848	140001848	C	T	MAN1B1	c.1713C>T	NM_016219.4	NP_057303.2:p.(Ile571=)	NC_000009.11:g.140001848C>T	(Likely) benign	1 lab	dc3e448d06
6:16327915 ATXN1 A>ATGCTGCTGCTGC	6	16327915	16327955	A	ATGCTGCTGCTGC	ATXN1	c.615_626dup	NM_000332.3	NP_000323.2:p.(Gln205_Gln208dup)	NC_000006.11:g.16327944_16327955dup	VUS	1 lab	dc3f583de5
4:15992868 PROM1 G>C	4	15992868	15992868	G	C	PROM1	c.1933C>G	NM_001145847.1	NP_001139319.1:p.(Leu645Val)	NC_000004.11:g.15992868G>C	VUS	1 lab	dc3fce2b09
22:51160524 MISSING G>A	22	51160524	51160524	G	A	MISSING				NC_000022.10:g.51160524G>A	(Likely) benign	1 lab	dc40709a5e
17:48653352 CACNA1G G>A	17	48653352	48653352	G	A	CACNA1G	c.1589G>A	NM_018896.4	NP_061496.2:p.(Arg530His)	NC_000017.10:g.48653352G>A	(Likely) benign	1 lab	dc419c626a
2:121726341 GLI2 C>T	2	121726341	121726341	C	T	GLI2	c.695C>T	NM_005270.4	NP_005261.2:p.(Ala232Val)	NC_000002.11:g.121726341C>T	VUS	1 lab	dc4208b730
X:135770146 ARHGEF6 G>C	X	135770146	135770146	G	C	ARHGEF6	c.1190C>G	NM_004840.2	NP_004831.1:p.(Thr397Ser)	NC_000023.10:g.135770146G>C	(Likely) benign	1 lab	dc43f8c57d
X:136113022 GPR101 T>G	X	136113022	136113022	T	G	GPR101	c.812A>C	NM_054021.1	NP_473362.1:p.(Lys271Thr)	NC_000023.10:g.136113022T>G	(Likely) benign	1 lab	dc45048617
X:115304142 AGTR2 A>G	X	115304142	115304142	A	G	AGTR2	c.609A>G	NM_000686.4	NP_000677.2:p.(Lys203=)	NC_000023.10:g.115304142A>G	(Likely) benign	1 lab	dc45f360a7
17:29556139 NF1 G>A	17	29556139	29556139	G	A	NF1	c.2506G>A	NM_000267.3	NP_000258.1:p.(Glu836Lys)	NC_000017.10:g.29556139G>A	VUS	1 lab	dc47046a7d
16:84203595 DNAAF1 C>G	16	84203595	84203595	C	G	DNAAF1	c.1161C>G	NM_178452.5	NP_848547.4:p.(Asp387Glu)	NC_000016.9:g.84203595C>G	(Likely) benign	1 lab	dc49f26812
X:11272778 ARHGAP6 G>A	X	11272778	11272778	G	A	ARHGAP6	c.638C>T	NM_013427.2	NP_038286.2:p.(Ser213Leu)	NC_000023.10:g.11272778G>A	VUS	1 lab	dc4ae9350d
3:114069479 ZBTB20 G>C	3	114069479	114069479	G	C	ZBTB20	c.1446C>G	NM_001348803.1	NP_001335732.1:p.(Thr482=)	NC_000003.11:g.114069479G>C	(Likely) benign	1 lab	dc4aeaa0f0
17:29588837 NF1 T>TGGGAA	17	29588837	29588838	T	TGGGAA	NF1	c.4623_4624insGGGAA	NM_000267.3	NP_000258.1:p.(Asn1542GlyfsTer13)	NC_000017.10:g.29588837_29588838insGGGAA	(Likely) pathogenic	1 lab	dc4bd9c4cd
17:29528178 NF1 G>A	17	29528178	29528178	G	A	NF1	c.1185+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528178G>A	(Likely) pathogenic	1 lab	dc4c2f0031
17:29559838 NF1 G>A	17	29559838	29559838	G	A	NF1	c.3435G>A	NM_000267.3	NP_000258.1:p.(Thr1145=)	NC_000017.10:g.29559838G>A	(Likely) benign	1 lab	dc4d15dd26
11:722411 EPS8L2 C>CCTG	11	722411	722415	C	CCTG	EPS8L2	c.1072_1074dup	NM_022772.3	NP_073609.2:p.(Cys358dup)	NC_000011.9:g.722413_722415dup	VUS	1 lab	dc4ef0860a
5:13719227 DNAH5 A>G	5	13719227	13719227	A	G	DNAH5	c.12280-17T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13719227A>G	(Likely) benign	1 lab	dc513a4607
X:154736695 TMLHE C>T	X	154736695	154736695	C	T	TMLHE	c.859G>A	NM_018196.3	NP_060666.1:p.(Glu287Lys)	NC_000023.10:g.154736695C>T	(Likely) benign	1 lab	dc51d9827d
X:96139887 RPA4 A>G	X	96139887	96139887	A	G	RPA4	c.578A>G	NM_013347.4	NP_037479.1:p.(Asn193Ser)	NC_000023.10:g.96139887A>G	(Likely) benign	1 lab	dc52defc96
X:71425209 ERCC6L G>A	X	71425209	71425209	G	A	ERCC6L	c.3039C>T	NM_001009954.2	NP_001009954.1:p.(Gly1013=)	NC_000023.10:g.71425209G>A	(Likely) benign	1 lab	dc549a7e84
12:52182540 SCN8A T>C	12	52182540	52182540	T	C	SCN8A	c.4281+8T>C	NM_001330260.1	NP_001317189.1:p.?	NC_000012.11:g.52182540T>C	(Likely) benign	1 lab	dc54befadb
4:10117773 WDR1 G>A	4	10117773	10117773	G	A	WDR1	c.102C>T	NM_017491.4	NP_059830.1:p.(Tyr34=)	NC_000004.11:g.10117773G>A	(Likely) benign	1 lab	dc580ed501
14:21991651 SALL2 G>A	14	21991651	21991651	G	A	SALL2	c.2211C>T	NM_005407.2	NP_005398.2:p.(Ser737=)	NC_000014.8:g.21991651G>A	(Likely) benign	1 lab	dc5894477d
11:120996316 TECTA C>T	11	120996316	120996316	C	T	TECTA	c.1509C>T	NM_005422.2	NP_005413.2:p.(Cys503=)	NC_000011.9:g.120996316C>T	(Likely) benign	1 lab	dc59442026
18:33779931 MOCOS G>A	18	33779931	33779931	G	A	MOCOS	c.585G>A	NM_017947.3	NP_060417.3:p.(Pro195=)	NC_000018.9:g.33779931G>A	(Likely) benign	1 lab	dc5a6e5ffc
1:228474593 OBSCN A>G	1	228474593	228474593	A	G	OBSCN	c.10684A>G	NM_001271223.2	NP_001258152.2:p.(Lys3562Glu)	NC_000001.10:g.228474593A>G	VUS	1 lab	dc5b177ff1
4:186339740 UFSP2 C>G	4	186339740	186339740	C	G	UFSP2	c.266+1G>C	NM_018359.3	NP_060829.2:p.?	NC_000004.11:g.186339740C>G	VUS	1 lab	dc5b5ea6dc
18:34298372 FHOD3 T>C	18	34298372	34298372	T	C	FHOD3	c.3111T>C	NM_001281740.2	NP_001268669.1:p.(Pro1037=)	NC_000018.9:g.34298372T>C	(Likely) benign	1 lab	dc5bfb3509
X:31227790 DMD A>T	X	31227790	31227790	A	T	DMD	c.9019T>A	NM_004010.3	NP_004001.1:p.(Cys3007Ser)	NC_000023.10:g.31227790A>T	VUS	1 lab	dc5f4138b5
X:41519790 CASK TA>T	X	41519790	41519791	TA	T	CASK	c.732del	NM_001367721.1	NP_001354650.1:p.(His244GlnfsTer9)	NC_000023.10:g.41519791del	(Likely) pathogenic	1 lab	dc607869c5
4:84191020 COQ2 G>C	4	84191020	84191020	G	C	COQ2	c.905C>G	NM_015697.8	NP_056512.5:p.(Ala302Gly)	NC_000004.11:g.84191020G>C	VUS	1 lab	dc61ee0268
2:48808401 STON1-GTF2A1L G>A	2	48808401	48808401	G	A	STON1-GTF2A1L	c.629G>A	NM_172311.2	NP_758515.1:p.(Arg210Lys)	NC_000002.11:g.48808401G>A	(Likely) benign	1 lab	dc620e9858
2:130912770 SMPD4 C>T	2	130912770	130912770	C	T	SMPD4	c.1469G>A	NM_017951.4	NP_060421.2:p.(Arg490His)	NC_000002.11:g.130912770C>T	VUS	1 lab	dc6298dfa8
9:139410139 NOTCH1 T>C	9	139410139	139410139	T	C	NOTCH1	c.1699A>G	NM_017617.5	NP_060087.3:p.(Ile567Val)	NC_000009.11:g.139410139T>C	VUS	1 lab	dc62dbf507
4:3149827 HTT G>T	4	3149827	3149827	G	T	HTT	c.3397G>T	NM_002111.8	NP_002102.4:p.(Asp1133Tyr)	NC_000004.11:g.3149827G>T	VUS	1 lab	dc646c50b6
7:90003630 GTPBP10 C>T	7	90003630	90003630	C	T	GTPBP10	c.553C>T	NM_033107.3	NP_149098.2:p.(Pro185Ser)	NC_000007.13:g.90003630C>T	VUS	1 lab	dc652b972e
5:141050157 ARAP3 C>T	5	141050157	141050157	C	T	ARAP3	c.2029G>A	NM_022481.5	NP_071926.4:p.(Ala677Thr)	NC_000005.9:g.141050157C>T	(Likely) benign	1 lab	dc65a33299
12:6806897 PIANP G>C	12	6806897	6806897	G	C	PIANP	c.79C>G	NM_001244014.1	NP_001230943.1:p.(Pro27Ala)	NC_000012.11:g.6806897G>C	(Likely) benign	1 lab	dc68153ce3
X:110963385 ALG13 C>A	X	110963385	110963385	C	A	ALG13	c.1079C>A	NM_001257231.1	NP_001244160.1:p.(Thr360Lys)	NC_000023.10:g.110963385C>A	(Likely) benign	1 lab	dc69254390
4:96052652 BMPR1B T>A	4	96052652	96052652	T	A	BMPR1B	c.1065T>A	NM_001203.2	NP_001194.1:p.(Val355=)	NC_000004.11:g.96052652T>A	(Likely) benign	1 lab	dc6a9b351e
5:13871653 DNAH5 A>G	5	13871653	13871653	A	G	DNAH5	c.3598+20T>C	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13871653A>G	(Likely) benign	1 lab	dc6b8bbf84
3:147120544 ZIC4 C>T	3	147120544	147120544	C	T	ZIC4	c.41G>A	NM_032153.5	NP_115529.2:p.(Arg14Gln)	NC_000003.11:g.147120544C>T	VUS	1 lab	dc6cb5ac7b
2:179430758 TTN A>G	2	179430758	179430758	A	G	TTN	c.80101T>C	NM_001267550.1	NP_001254479.1:p.(Phe26701Leu)	NC_000002.11:g.179430758A>G	VUS	1 lab	dc6f708a40
5:149767657 TCOF1 C>T	5	149767657	149767657	C	T	TCOF1	c.3046+6C>T	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149767657C>T	VUS	1 lab	dc6fd38598
4:126237721 FAT4 T>C	4	126237721	126237721	T	C	FAT4	c.155T>C	NM_024582.4	NP_078858.4:p.(Leu52Pro)	NC_000004.11:g.126237721T>C	VUS	1 lab	dc71aae35a
5:37227729 CPLANE1 G>A	5	37227729	37227729	G	A	CPLANE1	c.1312C>T	NM_023073.3	NP_075561.3:p.(Leu438Phe)	NC_000005.9:g.37227729G>A	VUS	1 lab	dc73fa8332
5:13914751 DNAH5 C>T	5	13914751	13914751	C	T	DNAH5	c.1198G>A	NM_001369.2	NP_001360.1:p.(Val400Met)	NC_000005.9:g.13914751C>T	VUS	1 lab	dc749c62d4
3:52360241 DNAH1 T>C	3	52360241	52360241	T	C	DNAH1	c.492T>C	NM_015512.4	NP_056327.4:p.(Thr164=)	NC_000003.11:g.52360241T>C	(Likely) benign	1 lab	dc763d93a6
21:46917035 COL18A1 C>T	21	46917035	46917035	C	T	COL18A1	c.2620+29C>T	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46917035C>T	(Likely) benign	1 lab	dc7664a9e1
4:187122302 CYP4V2 ATCATACAGGTCATC>A	4	187122302	187122316	ATCATACAGGTCATC	A	CYP4V2	c.802-8_807del	NM_207352.4	NP_997235.3:p.?	NC_000004.11:g.187122303_187122316del	(Likely) pathogenic	1 lab	dc7746f7bd
15:100533246 ADAMTS17 C>T	15	100533246	100533246	C	T	ADAMTS17	c.2949+7G>A	NM_139057.3	NP_620688.2:p.?	NC_000015.9:g.100533246C>T	(Likely) benign	1 lab	dc78b7bd16
11:73739426 C2CD3 A>G	11	73739426	73739426	A	G	C2CD3	c.6827T>C	NM_001286577.1	NP_001273506.1:p.(Val2276Ala)	NC_000011.9:g.73739426A>G	(Likely) benign	1 lab	dc7bec1a27
2:47202127 TTC7A G>A	2	47202127	47202127	G	A	TTC7A	c.533G>A	NM_001288951.1	NP_001275880.1:p.(Arg178His)	NC_000002.11:g.47202127G>A	VUS	1 lab	dc7ff3c627
17:29552143 NF1 CT>C	17	29552143	29552149	CT	C	NF1	c.1882del	NM_001042492.3	NP_001035957.1:p.(Tyr628ThrfsTer3)	NC_000017.10:g.29552149del	(Likely) pathogenic	1 lab	dc80ca8d94
11:67817666 TCIRG1 C>T	11	67817666	67817666	C	T	TCIRG1	c.1287C>T	NM_001351059.1	NP_001337988.1:p.(Cys429=)	NC_000011.9:g.67817666C>T	(Likely) benign	1 lab	dc81839491
8:145741432 RECQL4 G>A	8	145741432	145741432	G	A	RECQL4	c.1071C>T	NM_004260.3	NP_004251.3:p.(Asn357=)	NC_000008.10:g.145741432G>A	(Likely) benign	1 lab	dc8273e470
9:135776220 TSC1 G>C	9	135776220	135776220	G	C	TSC1	c.2507C>G	NM_000368.4	NP_000359.1:p.(Ser836Ter)	NC_000009.11:g.135776220G>C	(Likely) pathogenic	1 lab	dc82b04788
15:89862213 POLG C>A	15	89862213	89862213	C	A	POLG	c.3222G>T	NM_002693.2	NP_002684.1:p.(Val1074=)	NC_000015.9:g.89862213C>A	(Likely) benign	1 lab	dc8325c862
6:35425743 FANCE C>T	6	35425743	35425743	C	T	FANCE	c.951C>T	NM_021922.2	NP_068741.1:p.(His317=)	NC_000006.11:g.35425743C>T	(Likely) benign	1 lab	dc835f3083
18:19429229 MIB1 CTCAGA>C	18	19429229	19429235	CTCAGA	C	MIB1	c.2468_2472del	NM_020774.4	NP_065825.1:p.(Ser823TyrfsTer30)	NC_000018.9:g.19429231_19429235del	VUS	1 lab	dc838c201c
4:79400634 FRAS1 G>T	4	79400634	79400634	G	T	FRAS1	c.8205G>T	NM_025074.7	NP_079350.5:p.(Gly2735=)	NC_000004.11:g.79400634G>T	VUS	1 lab	dc853255ad
7:42079839 GLI3 C>T	7	42079839	42079839	C	T	GLI3	c.827-1G>A	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42079839C>T	(Likely) pathogenic	1 lab	dc856a2003
12:2675636 CACNA1C C>A	12	2675636	2675636	C	A	CACNA1C	c.1557C>A	NM_199460.3	NP_955630.3:p.(Ala519=)	NC_000012.11:g.2675636C>A	(Likely) benign	1 lab	dc859a8b0e
X:144905411 SLITRK2 A>G	X	144905411	144905411	A	G	SLITRK2	c.1468A>G	NM_032539.4	NP_115928.1:p.(Ile490Val)	NC_000023.10:g.144905411A>G	(Likely) benign	1 lab	dc85f6c8b5
4:79367971 FRAS1 C>T	4	79367971	79367971	C	T	FRAS1	c.5947C>T	NM_025074.7	NP_079350.5:p.(Leu1983=)	NC_000004.11:g.79367971C>T	(Likely) benign	1 lab	dc86191c0c
19:47981003 KPTN C>T	19	47981003	47981003	C	T	KPTN	c.823G>A	NM_007059.3	NP_008990.2:p.(Val275Met)	NC_000019.9:g.47981003C>T	VUS	1 lab	dc861eadad
19:8651745 ADAMTS10 C>T	19	8651745	8651745	C	T	ADAMTS10	c.2194G>A	NM_030957.3	NP_112219.3:p.(Val732Ile)	NC_000019.9:g.8651745C>T	VUS	1 lab	dc87ff21de
18:260200 THOC1 C>A	18	260200	260200	C	A	THOC1	c.361G>T	NM_005131.3	NP_005122.2:p.(Ala121Ser)	NC_000018.9:g.260200C>A	(Likely) benign	1 lab	dc8854ae1a
9:65506349 SPATA31A7 C>A	9	65506349	65506349	C	A	SPATA31A7	c.1211G>T	NM_015667.2	NP_056482.2:p.(Trp404Leu)	NC_000009.11:g.65506349C>A	(Likely) benign	1 lab	dc889d1605
19:9089323 MUC16 G>A	19	9089323	9089323	G	A	MUC16	c.2492C>T	NM_024690.2	NP_078966.2:p.(Ser831Leu)	NC_000019.9:g.9089323G>A	VUS	1 lab	dc891a4521
22:29737551 AP1B1 T>C	22	29737551	29737551	T	C	AP1B1	c.1735A>G	NM_001127.3	NP_001118.3:p.(Ser579Gly)	NC_000022.10:g.29737551T>C	VUS	1 lab	dc90591692
X:48673430 HDAC6 C>G	X	48673430	48673430	C	G	HDAC6	c.1121C>G	NM_001321226.1	NP_001308155.1:p.(Ala374Gly)	NC_000023.10:g.48673430C>G	VUS	1 lab	dc91286238
17:78081499 GAA G>A	17	78081499	78081499	G	A	GAA	c.836G>A	NM_000152.3	NP_000143.2:p.(Trp279Ter)	NC_000017.10:g.78081499G>A	(Likely) pathogenic	1 lab	dc91e911d1
3:133119173 BFSP2 T>C	3	133119173	133119173	T	C	BFSP2	c.246T>C	NM_003571.3	NP_003562.1:p.(Ser82=)	NC_000003.11:g.133119173T>C	(Likely) benign	1 lab	dc921528af
X:34962707 FAM47B T>C	X	34962707	34962707	T	C	FAM47B	c.1759T>C	NM_152631.2	NP_689844.2:p.(Tyr587His)	NC_000023.10:g.34962707T>C	(Likely) benign	1 lab	dc9223fd53
2:44586680 PREPL A>T	2	44586680	44586680	A	T	PREPL	c.175T>A	NM_006036.4	NP_006027.2:p.(Ser59Thr)	NC_000002.11:g.44586680A>T	(Likely) benign	1 lab	dc937ed586
2:170059326 LRP2 A>G	2	170059326	170059326	A	G	LRP2	c.8149T>C	NM_004525.3	NP_004516.2:p.(Trp2717Arg)	NC_000002.11:g.170059326A>G	(Likely) benign	1 lab	dc95fad3dc
7:117171103 CFTR A>C	7	117171103	117171103	A	C	CFTR	c.424A>C	NM_000492.3	NP_000483.3:p.(Ile142Leu)	NC_000007.13:g.117171103A>C	(Likely) benign	1 lab	dc9670f95e
X:153455586 OPN1MW A>G	X	153455586	153455586	A	G	OPN1MW	c.453A>G	NM_000513.2	NP_000504.1:p.(Arg151=)	NC_000023.10:g.153455586A>G	(Likely) benign	1 lab	dc98b54972
3:48508402 TREX1 A>G	3	48508402	48508402	A	G	TREX1	c.318A>G	NM_007248.4	NP_009179.2:p.(Pro106=)	NC_000003.11:g.48508402A>G	(Likely) benign	1 lab	dc99ddd6b3
9:432263 DOCK8 G>A	9	432263	432263	G	A	DOCK8	c.4724G>A	NM_203447.3	NP_982272.2:p.(Arg1575Lys)	NC_000009.11:g.432263G>A	VUS	1 lab	dc9f1a2082
15:89861821 POLG C>G	15	89861821	89861821	C	G	POLG	c.3433G>C	NM_002693.2	NP_002684.1:p.(Asp1145His)	NC_000015.9:g.89861821C>G	VUS	1 lab	dca04ddde4
X:37850328 H2AP G>T	X	37850328	37850328	G	T	H2AP	c.236G>T	NM_012274.1	NP_036406.1:p.(Arg79Leu)	NC_000023.10:g.37850328G>T	(Likely) benign	1 lab	dca082fb1b
2:234978623 SPP2 G>A	2	234978623	234978623	G	A	SPP2	c.602G>A	NM_006944.2	NP_008875.1:p.(Arg201Gln)	NC_000002.11:g.234978623G>A	(Likely) benign	1 lab	dca176e21e
19:12769055 MAN2B1 T>C	19	12769055	12769055	T	C	MAN2B1	c.1213A>G	NM_000528.3	NP_000519.2:p.(Ser405Gly)	NC_000019.9:g.12769055T>C	VUS	1 lab	dca1a21c1e
20:62319390 RTEL1 G>A	20	62319390	62319390	G	A	RTEL1	c.1582G>A	NM_001283009.1	NP_001269938.1:p.(Ala528Thr)	NC_000020.10:g.62319390G>A	(Likely) benign	1 lab	dca26bc514
21:46931094 COL18A1 C>T	21	46931094	46931094	C	T	COL18A1	c.4999C>T	NM_130444.3	NP_569711.2:p.(Arg1667Cys)	NC_000021.8:g.46931094C>T	VUS	1 lab	dca35af1f9
X:39913185 BCOR T>C	X	39913185	39913185	T	C	BCOR	c.4930A>G	NM_001123385.1	NP_001116857.1:p.(Thr1644Ala)	NC_000023.10:g.39913185T>C	(Likely) benign	1 lab	dca3e5f3fc
2:179634858 TTN G>A	2	179634858	179634858	G	A	TTN	c.8570C>T	NM_001267550.1	NP_001254479.1:p.(Ser2857Phe)	NC_000002.11:g.179634858G>A	VUS	1 lab	dca4856f69
4:151412186 LRBA A>C	4	151412186	151412186	A	C	LRBA	c.6332T>G	NM_001199282.2	NP_001186211.2:p.(Ile2111Ser)	NC_000004.11:g.151412186A>C	VUS	1 lab	dca559c89c
19:19329926 NCAN C>T	19	19329926	19329926	C	T	NCAN	c.276C>T	NM_004386.3	NP_004377.2:p.(Pro92=)	NC_000019.9:g.19329926C>T	(Likely) benign	1 lab	dca5e139e1
7:19156598 TWIST1 C>T	7	19156598	19156598	C	T	TWIST1	c.347G>A	NM_000474.3	NP_000465.1:p.(Arg116Gln)	NC_000007.13:g.19156598C>T	VUS	1 lab	dca71d58dd
1:215956101 USH2A T>C	1	215956101	215956101	T	C	USH2A	c.10564A>G	NM_206933.2	NP_996816.2:p.(Arg3522Gly)	NC_000001.10:g.215956101T>C	VUS	1 lab	dca7485f89
1:223568001 CCDC185 T>G	1	223568001	223568001	T	G	CCDC185	c.1184T>G	NM_152610.2	NP_689823.2:p.(Leu395Arg)	NC_000001.10:g.223568001T>G	(Likely) benign	1 lab	dca7ce6329
4:122789200 BBS7 AC>A	4	122789200	122789202	AC	A	BBS7	c.37del	NM_176824.3	NP_789794.1:p.(Val13TrpfsTer3)	NC_000004.11:g.122789202del	(Likely) pathogenic	1 lab	dca7e8caf0
9:140938277 CACNA1B C>T	9	140938277	140938277	C	T	CACNA1B	c.3338C>T	NM_000718.3	NP_000709.1:p.(Ala1113Val)	NC_000009.11:g.140938277C>T	(Likely) benign	1 lab	dca8c435f3
3:58097534 FLNB C>T	3	58097534	58097534	C	T	FLNB	c.2501C>T	NM_001164317.1	NP_001157789.1:p.(Pro834Leu)	NC_000003.11:g.58097534C>T	VUS	1 lab	dca94fc06a
11:17573568 OTOG G>A	11	17573568	17573568	G	A	OTOG	c.274G>A	NM_001277269.1	NP_001264198.1:p.(Val92Met)	NC_000011.9:g.17573568G>A	(Likely) benign	1 lab	dcab44ed67
8:145641255 SLC39A4 G>A	8	145641255	145641255	G	A	SLC39A4	c.338C>T	NM_017767.2	NP_060237.2:p.(Pro113Leu)	NC_000008.10:g.145641255G>A	(Likely) benign	1 lab	dcaba05f1f
20:3214938 SLC4A11 T>C	20	3214938	3214938	T	C	SLC4A11	c.443A>G	NM_001174090.1	NP_001167561.1:p.(Lys148Arg)	NC_000020.10:g.3214938T>C	(Likely) benign	1 lab	dcacce34e8
8:94807692 TMEM67 T>C	8	94807692	94807692	T	C	TMEM67	c.1730T>C	NM_153704.5	NP_714915.3:p.(Ile577Thr)	NC_000008.10:g.94807692T>C	VUS	1 lab	dcad058500
7:100646309 MUC12 T>A	7	100646309	100646309	T	A	MUC12	c.12465T>A	NM_001164462.1	NP_001157934.1:p.(Val4155=)	NC_000007.13:g.100646309T>A	(Likely) benign	1 lab	dcad8c9dec
12:111052219 TCTN1 G>C	12	111052219	111052219	G	C	TCTN1	c.220+12G>C	NM_001082538.2	NP_001076007.1:p.?	NC_000012.11:g.111052219G>C	(Likely) benign	1 lab	dcae02271b
1:240371661 FMN2 A>C	1	240371661	240371661	A	C	FMN2	c.3549A>C	NM_020066.5	NP_064450.3:p.(Gly1183=)	NC_000001.10:g.240371661A>C	(Likely) benign	1 lab	dcafed6aaa
17:78078606 GAA G>A	17	78078606	78078606	G	A	GAA	c.221G>A	NM_000152.3	NP_000143.2:p.(Arg74His)	NC_000017.10:g.78078606G>A	(Likely) benign	1 lab	dcb02e2a76
18:29126042 DSG2 A>G	18	29126042	29126042	A	G	DSG2	c.2693A>G	NM_001943.3	NP_001934.2:p.(Asn898Ser)	NC_000018.9:g.29126042A>G	(Likely) benign	1 lab	dcb3ab07ac
14:23345341 LRP10 G>A	14	23345341	23345341	G	A	LRP10	c.1184G>A	NM_014045.4	NP_054764.2:p.(Arg395His)	NC_000014.8:g.23345341G>A	(Likely) benign	1 lab	dcb3d3b281
2:179431515 TTN C>A	2	179431515	179431515	C	A	TTN	c.79344G>T	NM_001267550.1	NP_001254479.1:p.(Val26448=)	NC_000002.11:g.179431515C>A	(Likely) benign	1 lab	dcb638b891
17:29667609 NF1 ACTT>A	17	29667609	29667615	ACTT	A	NF1	c.7012_7014del	NM_001042492.3	NP_001035957.1:p.(Leu2338del)	NC_000017.10:g.29667613_29667615del	(Likely) pathogenic	1 lab	dcb7a628b3
7:117267583 CFTR C>T	7	117267583	117267583	C	T	CFTR	c.3476C>T	NM_000492.3	NP_000483.3:p.(Ser1159Phe)	NC_000007.13:g.117267583C>T	(Likely) pathogenic	1 lab	dcb7b150d4
2:220012457 NHEJ1 T>G	2	220012457	220012457	T	G	NHEJ1	c.451A>C	NM_024782.2	NP_079058.1:p.(Arg151=)	NC_000002.11:g.220012457T>G	(Likely) benign	1 lab	dcb8643a69
3:47165733 SETD2 G>A	3	47165733	47165733	G	A	SETD2	c.393C>T	NM_014159.6	NP_054878.5:p.(Ser131=)	NC_000003.11:g.47165733G>A	(Likely) benign	1 lab	dcb9288b31
9:135796754 TSC1 G>A	9	135796754	135796754	G	A	TSC1	c.733C>T	NM_000368.4	NP_000359.1:p.(Arg245Ter)	NC_000009.11:g.135796754G>A	(Likely) pathogenic	1 lab	dcb988a2a4
16:15917149 MYH11 G>A	16	15917149	15917149	G	A	MYH11	c.465C>T	NM_001040113.1	NP_001035202.1:p.(Tyr155=)	NC_000016.9:g.15917149G>A	(Likely) benign	1 lab	dcba15de97
1:27874813 AHDC1 G>A	1	27874813	27874813	G	A	AHDC1	c.3814C>T	NM_001029882.3	NP_001025053.1:p.(Arg1272Ter)	NC_000001.10:g.27874813G>A	(Likely) pathogenic	1 lab	dcba9c69fd
5:40931237 C7 C>T	5	40931237	40931237	C	T	C7	c.134C>T	NM_000587.2	NP_000578.2:p.(Thr45Ile)	NC_000005.9:g.40931237C>T	VUS	1 lab	dcbaec03da
3:58134452 FLNB C>T	3	58134452	58134452	C	T	FLNB	c.6057C>T	NM_001164317.1	NP_001157789.1:p.(Ser2019=)	NC_000003.11:g.58134452C>T	(Likely) benign	1 lab	dcbd9f64e1
1:152284289 FLG C>T	1	152284289	152284289	C	T	FLG	c.3073G>A	NM_002016.1	NP_002007.1:p.(Ala1025Thr)	NC_000001.10:g.152284289C>T	VUS	1 lab	dcbe5bcf65
9:134398346 POMT1 C>T	9	134398346	134398346	C	T	POMT1	c.2097C>T	NM_007171.3	NP_009102.3:p.(Ser699=)	NC_000009.11:g.134398346C>T	(Likely) benign	1 lab	dcbee74040
11:102094365 YAP1 C>A	11	102094365	102094365	C	A	YAP1	c.1057C>A	NM_001282101.1	NP_001269030.1:p.(Arg353Ser)	NC_000011.9:g.102094365C>A	VUS	1 lab	dcbf0da8a6
X:17047675 REPS2 G>T	X	17047675	17047675	G	T	REPS2	c.700G>T	NM_004726.2	NP_004717.2:p.(Val234Phe)	NC_000023.10:g.17047675G>T	(Likely) benign	1 lab	dcc07746e3
19:17547482 TMEM221 A>G	19	17547482	17547482	A	G	TMEM221	c.661T>C	NM_001190844.2	NP_001177773.1:p.(Ser221Pro)	NC_000019.9:g.17547482A>G	(Likely) benign	1 lab	dcc2b3c328
7:21923927 DNAH11 C>T	7	21923927	21923927	C	T	DNAH11				NC_000007.13:g.21923927C>T	VUS	1 lab	dcc3b45c01
20:60902610 LAMA5 C>T	20	60902610	60902610	C	T	LAMA5	c.4913G>A	NM_005560.4	NP_005551.3:p.(Arg1638Gln)	NC_000020.10:g.60902610C>T	(Likely) benign	1 lab	dcc6ee541e
17:78023885 CCDC40 G>A	17	78023885	78023885	G	A	CCDC40	c.962G>A	NM_017950.3	NP_060420.2:p.(Arg321Gln)	NC_000017.10:g.78023885G>A	VUS	1 lab	dcc705d957
9:139399159 NOTCH1 G>A	9	139399159	139399159	G	A	NOTCH1	c.4984C>T	NM_017617.5	NP_060087.3:p.(Arg1662Trp)	NC_000009.11:g.139399159G>A	VUS	1 lab	dcc87c0662
22:30090772 NF2 CCTT>C	22	30090772	30090778	CCTT	C	NF2	c.1773_1775del	NM_000268.4	NP_000259.1:p.(Phe592del)	NC_000022.10:g.30090776_30090778del	VUS	1 lab	dccb5f12af
12:40834968 MUC19 C>T	12	40834968	40834968	C	T	MUC19	c.3727C>T	NM_173600.2	NP_775871.2:p.(Arg1243Ter)	NC_000012.11:g.40834968C>T	VUS	1 lab	dccbdb9ec2
15:34014920 RYR3 G>A	15	34014920	34014920	G	A	RYR3	c.6624G>A	NM_001036.4	NP_001027.3:p.(Glu2208=)	NC_000015.9:g.34014920G>A	(Likely) benign	1 lab	dccbf38bb7
11:66618293 PC C>T	11	66618293	66618293	C	T	PC	c.2325G>A	NM_001040716.1	NP_001035806.1:p.(Thr775=)	NC_000011.9:g.66618293C>T	(Likely) benign	1 lab	dcccc84440
19:55667706 TNNI3 G>C	19	55667706	55667706	G	C	TNNI3	c.151-6C>G	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55667706G>C	(Likely) benign	1 lab	dccd38721f
21:47850493 PCNT G>T	21	47850493	47850493	G	T	PCNT	c.7986G>T	NM_006031.5	NP_006022.3:p.(Gly2662=)	NC_000021.8:g.47850493G>T	(Likely) benign	1 lab	dcd04f12e2
12:111885187 SH2B3 C>T	12	111885187	111885187	C	T	SH2B3	c.1075C>T	NM_005475.2	NP_005466.1:p.(Leu359=)	NC_000012.11:g.111885187C>T	(Likely) benign	1 lab	dcd1b783c5
X:100511153 DRP2 C>T	X	100511153	100511153	C	T	DRP2	c.2293C>T	NM_001939.2	NP_001930.2:p.(Arg765Trp)	NC_000023.10:g.100511153C>T	VUS	1 lab	dcd22ccc58
5:67576370 PIK3R1 G>A	5	67576370	67576370	G	A	PIK3R1	c.649G>A	NM_181523.2	NP_852664.1:p.(Glu217Lys)	NC_000005.9:g.67576370G>A	VUS	1 lab	dcd3c763ba
1:11826908 C1orf167 C>CA	1	11826908	11826909	C	CA	C1orf167	c.1066dup	NM_001010881.1	NP_001010881.1:p.(Ser356LysfsTer15)	NC_000001.10:g.11826909dup	VUS	1 lab	dcd5071b21
X:37029362 FAM47C C>A	X	37029362	37029362	C	A	FAM47C	c.2879C>A	NM_001013736.2	NP_001013758.1:p.(Pro960His)	NC_000023.10:g.37029362C>A	VUS	1 lab	dcd5e8eca3
1:34663416 C1orf94 T>C	1	34663416	34663416	T	C	C1orf94	c.911T>C	NM_001134734.2	NP_001128206.1:p.(Leu304Pro)	NC_000001.10:g.34663416T>C	VUS	1 lab	dcdb88183d
17:8793283 PIK3R5 G>C	17	8793283	8793283	G	C	PIK3R5	c.811+7C>G	NM_014308.3	NP_055123.2:p.?	NC_000017.10:g.8793283G>C	(Likely) benign	1 lab	dcdba431aa
9:135802645 TSC1 T>G	9	135802645	135802645	T	G	TSC1	c.153A>C	NM_000368.4	NP_000359.1:p.(Glu51Asp)	NC_000009.11:g.135802645T>G	(Likely) benign	1 lab	dcdbe35204
2:227896735 COL4A4 C>T	2	227896735	227896735	C	T	COL4A4	c.3743G>A	NM_000092.4	NP_000083.3:p.(Gly1248Glu)	NC_000002.11:g.227896735C>T	VUS	1 lab	dcdcb1ac08
10:134219184 PWWP2B T>C	10	134219184	134219184	T	C	PWWP2B	c.1180T>C	NM_138499.4	NP_612508.3:p.(Cys394Arg)	NC_000010.10:g.134219184T>C	VUS	1 lab	dcdf00ab59
13:40325092 COG6 C>T	13	40325092	40325092	C	T	COG6	c.1836C>T	NM_020751.3	NP_065802.1:p.(Ile612=)	NC_000013.10:g.40325092C>T	(Likely) benign	1 lab	dce16b8217
X:70367694 NLGN3 C>T	X	70367694	70367694	C	T	NLGN3	c.95C>T	NM_181303.1	NP_851820.1:p.(Ala32Val)	NC_000023.10:g.70367694C>T	(Likely) benign	1 lab	dce290001f
X:49028375 PLP2 C>T	X	49028375	49028375	C	T	PLP2	c.28C>T	NM_002668.2	NP_002659.1:p.(Pro10Ser)	NC_000023.10:g.49028375C>T	(Likely) benign	1 lab	dce2cad966
9:40706054 SPATA31A3 G>A	9	40706054	40706054	G	A	SPATA31A3	c.3711G>A	NM_001083124.1	NP_001076593.1:p.(Gln1237=)	NC_000009.11:g.40706054G>A	(Likely) benign	1 lab	dce355751a
1:92946327 GFI1 G>A	1	92946327	92946327	G	A	GFI1	c.617C>T	NM_001127215.2	NP_001120687.1:p.(Ala206Val)	NC_000001.10:g.92946327G>A	VUS	1 lab	dce7431e93
11:45832610 SLC35C1 C>T	11	45832610	45832610	C	T	SLC35C1	c.819C>T	NM_018389.4	NP_060859.4:p.(Gly273=)	NC_000011.9:g.45832610C>T	(Likely) benign	1 lab	dce78605c0
13:31821223 B3GLCT C>G	13	31821223	31821223	C	G	B3GLCT	c.334C>G	NM_194318.3	NP_919299.3:p.(Pro112Ala)	NC_000013.10:g.31821223C>G	VUS	1 lab	dce7ec6e68
15:63924926 HERC1 C>T	15	63924926	63924926	C	T	HERC1	c.12778G>A	NM_003922.3	NP_003913.3:p.(Val4260Met)	NC_000015.9:g.63924926C>T	VUS	1 lab	dce8fe5e89
6:117715890 ROS1 C>G	6	117715890	117715890	C	G	ROS1	c.868G>C	NM_002944.2	NP_002935.2:p.(Glu290Gln)	NC_000006.11:g.117715890C>G	(Likely) benign	1 lab	dceae87574
8:1808224 ARHGEF10 C>G	8	1808224	1808224	C	G	ARHGEF10	c.427C>G	NM_001308153.1	NP_001295082.1:p.(Leu143Val)	NC_000008.10:g.1808224C>G	(Likely) benign	1 lab	dcec8b54a7
X:135764980 ARHGEF6 C>T	X	135764980	135764980	C	T	ARHGEF6	c.1416G>A	NM_004840.2	NP_004831.1:p.(Met472Ile)	NC_000023.10:g.135764980C>T	(Likely) benign	1 lab	dced50f64b
1:208202177 PLXNA2 C>A	1	208202177	208202177	C	A	PLXNA2	c.5436G>T	NM_025179.4	NP_079455.3:p.(Glu1812Asp)	NC_000001.10:g.208202177C>A	VUS	1 lab	dced7bce20
17:72960605 HID1 G>C	17	72960605	72960605	G	C	HID1	c.189C>G	NM_030630.3	NP_085133.1:p.(Pro63=)	NC_000017.10:g.72960605G>C	(Likely) benign	1 lab	dcee50475f
1:227076735 PSEN2 G>A	1	227076735	227076735	G	A	PSEN2	c.772G>A	NM_000447.2	NP_000438.2:p.(Ala258Thr)	NC_000001.10:g.227076735G>A	VUS	1 lab	dcf04b1f03
17:3417226 TRPV3 C>A	17	3417226	3417226	C	A	TRPV3	c.2361G>T	NM_001258205.1	NP_001245134.1:p.(Pro787=)	NC_000017.10:g.3417226C>A	(Likely) benign	1 lab	dcf1c3860f
1:20231384 OTUD3 G>A	1	20231384	20231384	G	A	OTUD3	c.739G>A	NM_015207.2	NP_056022.1:p.(Asp247Asn)	NC_000001.10:g.20231384G>A	VUS	1 lab	dcf38bf179
10:104375258 SUFU G>A	10	104375258	104375258	G	A	SUFU	c.1157+99G>A	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104375258G>A	(Likely) benign	1 lab	dcf4dcce74
2:190728807 PMS1 T>C	2	190728807	190728807	T	C	PMS1	c.2195T>C	NM_001321047.1	NP_001307976.1:p.(Phe732Ser)	NC_000002.11:g.190728807T>C	VUS	1 lab	dcf566edd7
6:165846455 PDE10A G>C	6	165846455	165846455	G	C	PDE10A	c.663+7C>G	NM_006661.3	NP_006652.1:p.?	NC_000006.11:g.165846455G>C	(Likely) benign	1 lab	dcf82c9baa
9:117826124 TNC C>T	9	117826124	117826124	C	T	TNC	c.3711G>A	NM_002160.3	NP_002151.2:p.(Gly1237=)	NC_000009.11:g.117826124C>T	(Likely) benign	1 lab	dcf94776c9
1:17380450 SDHB C>G	1	17380450	17380450	C	G	SDHB	c.65G>C	NM_003000.2	NP_002991.2:p.(Cys22Ser)	NC_000001.10:g.17380450C>G	(Likely) benign	1 lab	dcf9989fed
15:40914730 KNL1 A>G	15	40914730	40914730	A	G	KNL1	c.2346A>G	NM_170589.4	NP_733468.3:p.(Ser782=)	NC_000015.9:g.40914730A>G	(Likely) benign	1 lab	dcfb9c6f8a
11:6655399 DCHS1 G>C	11	6655399	6655399	G	C	DCHS1				NC_000011.9:g.6655399G>C	VUS	1 lab	dcfcdc30a8
1:228431144 OBSCN C>T	1	228431144	228431144	C	T	OBSCN	c.3466C>T	NM_001271223.2	NP_001258152.2:p.(Arg1156Cys)	NC_000001.10:g.228431144C>T	VUS	1 lab	dcfd50b454
X:153220497 HCFC1 T>C	X	153220497	153220497	T	C	HCFC1	c.3353A>G	NM_005334.2	NP_005325.2:p.(Asn1118Ser)	NC_000023.10:g.153220497T>C	(Likely) benign	1 lab	dcfe0fce85
1:39893638 MACF1 G>A	1	39893638	39893638	G	A	MACF1	c.10296G>A	NM_012090.5	NP_036222.3:p.(Leu3432=)	NC_000001.10:g.39893638G>A	(Likely) benign	1 lab	dcfef5d3cc
X:119660646 CUL4B T>C	X	119660646	119660646	T	C	CUL4B	c.2712A>G	NM_003588.3	NP_003579.3:p.(Glu904=)	NC_000023.10:g.119660646T>C	(Likely) benign	1 lab	dd009d13f6
10:79397330 KCNMA1 C>T	10	79397330	79397330	C	T	KCNMA1	c.71G>A	NM_001322830.1	NP_001309759.1:p.(Arg24Lys)	NC_000010.10:g.79397330C>T	VUS	1 lab	dd0251dc48
11:397288 PKP3 G>A	11	397288	397288	G	A	PKP3	c.787G>A	NM_007183.4	NP_009114.1:p.(Val263Ile)	NC_000011.9:g.397288G>A	(Likely) benign	1 lab	dd047e6d66
11:64522240 PYGM G>A	11	64522240	64522240	G	A	PYGM	c.660C>T	NM_001164716.1	NP_001158188.1:p.(Ile220=)	NC_000011.9:g.64522240G>A	(Likely) benign	1 lab	dd055ac0f0
7:106843966 COG5 G>A	7	106843966	106843966	G	A	COG5	c.2578C>T	NM_006348.3	NP_006339.3:p.(Gln860Ter)	NC_000007.13:g.106843966G>A	VUS	1 lab	dd05884ae0
20:32264941 E2F1 G>A	20	32264941	32264941	G	A	E2F1	c.1036C>T	NM_005225.2	NP_005216.1:p.(Pro346Ser)	NC_000020.10:g.32264941G>A	(Likely) benign	1 lab	dd08880b60
17:8133925 CTC1 C>T	17	8133925	8133925	C	T	CTC1	c.2714G>A	NM_025099.6	NP_079375.3:p.(Arg905Gln)	NC_000017.10:g.8133925C>T	VUS	1 lab	dd0af1749a
21:38309113 HLCS G>A	21	38309113	38309113	G	A	HLCS	c.632C>T	NM_001242784.2	NP_001229713.1:p.(Thr211Met)	NC_000021.8:g.38309113G>A	(Likely) benign	1 lab	dd0b6a571c
1:94508888 ABCA4 G>C	1	94508888	94508888	G	C	ABCA4	c.3190+4C>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94508888G>C	VUS	1 lab	dd0c524779
15:101718899 CHSY1 C>T	15	101718899	101718899	C	T	CHSY1	c.1103G>A	NM_014918.4	NP_055733.2:p.(Arg368His)	NC_000015.9:g.101718899C>T	(Likely) benign	1 lab	dd0cf9541c
X:151899966 MAGEA12 C>T	X	151899966	151899966	C	T	MAGEA12	c.835G>A	NM_001166386.3	NP_001159858.1:p.(Val279Ile)	NC_000023.10:g.151899966C>T	(Likely) benign	1 lab	dd0ee1e550
X:80064538 BRWD3 G>A	X	80064538	80064538	G	A	BRWD3	c.94C>T	NM_153252.4	NP_694984.4:p.(Leu32=)	NC_000023.10:g.80064538G>A	(Likely) benign	1 lab	dd0f0bc156
9:712933 KANK1 C>T	9	712933	712933	C	T	KANK1	c.2167C>T	NM_001256877.2	NP_001243806.1:p.(Arg723Cys)	NC_000009.11:g.712933C>T	VUS	1 lab	dd10c633e0
3:78737830 ROBO1 G>A	3	78737830	78737830	G	A	ROBO1	c.1030C>T	NM_133631.3	NP_598334.2:p.(Pro344Ser)	NC_000003.11:g.78737830G>A	VUS	1 lab	dd10cab171
X:130417085 IGSF1 GTCT>G	X	130417085	130417092	GTCT	G	IGSF1	c.818_820del	NM_001555.5	NP_001546.2:p.(Lys273del)	NC_000023.10:g.130417090_130417092del	VUS	1 lab	dd151c1e07
20:62292821 RTEL1 C>CGCT	20	62292821	62292837	C	CGCT	RTEL1	c.287_289dup	NM_001283009.1	NP_001269938.1:p.(Ala96dup)	NC_000020.10:g.62292835_62292837dup	VUS	1 lab	dd154e51fc
17:76435216 DNAH17 C>A	17	76435216	76435216	C	A	DNAH17	c.11761G>T	NM_173628.3	NP_775899.3:p.(Ala3921Ser)	NC_000017.10:g.76435216C>A	VUS	1 lab	dd16cb4dc7
5:10258533 CCT5 T>C	5	10258533	10258533	T	C	CCT5	c.594T>C	NM_001306154.1	NP_001293083.1:p.(Cys198=)	NC_000005.9:g.10258533T>C	(Likely) benign	1 lab	dd16f75f25
13:60686146 DIAPH3 T>C	13	60686146	60686146	T	C	DIAPH3	c.388A>G	NM_001042517.1	NP_001035982.1:p.(Met130Val)	NC_000013.10:g.60686146T>C	(Likely) benign	1 lab	dd1734a403
12:88560304 TMTC3 T>C	12	88560304	88560304	T	C	TMTC3	c.995T>C	NM_181783.3	NP_861448.2:p.(Met332Thr)	NC_000012.11:g.88560304T>C	(Likely) benign	1 lab	dd18900b3e
6:56425227 DST A>C	6	56425227	56425227	A	C	DST	c.7954-6T>G	NM_001144769.2	NP_001138241.1:p.?	NC_000006.11:g.56425227A>C	VUS	1 lab	dd1896e832
6:152708232 SYNE1 A>G	6	152708232	152708232	A	G	SYNE1	c.8462T>C	NM_182961.3	NP_892006.3:p.(Phe2821Ser)	NC_000006.11:g.152708232A>G	VUS	1 lab	dd18b32da2
18:10696420 PIEZO2 G>T	18	10696420	10696420	G	T	PIEZO2	c.6606C>A	NM_022068.3	NP_071351.2:p.(Ile2202=)	NC_000018.9:g.10696420G>T	(Likely) benign	1 lab	dd280dbda1
X:100169392 XKRX G>A	X	100169392	100169392	G	A	XKRX	c.1285C>T	NM_212559.2	NP_997724.2:p.(Pro429Ser)	NC_000023.10:g.100169392G>A	(Likely) benign	1 lab	dd1cb4e65b
13:78492518 EDNRB C>A	13	78492518	78492518	C	A	EDNRB	c.191G>T	NM_000115.4	NP_000106.1:p.(Arg64Leu)	NC_000013.10:g.78492518C>A	VUS	1 lab	dd1cda108f
7:91864902 KRIT1 GAGA>G	7	91864902	91864907	GAGA	G	KRIT1	c.541_543del	NM_194454.3	NP_919436.1:p.(Ser181del)	NC_000007.13:g.91864905_91864907del	VUS	1 lab	dd1eb5a7fd
3:15686615 BTD T>C	3	15686615	15686615	T	C	BTD	c.1252T>C	NM_000060.4	NP_000051.1:p.(Cys418Arg)	NC_000003.11:g.15686615T>C	VUS	1 lab	dd1fa7e119
15:31453128 TRPM1 G>A	15	31453128	31453128	G	A	TRPM1	c.35C>T	NM_001252020.1	NP_001238949.1:p.(Ser12Phe)	NC_000015.9:g.31453128G>A	VUS	1 lab	dd1fd6a2aa
12:48389710 COL2A1 G>A	12	48389710	48389710	G	A	COL2A1	c.610-8C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48389710G>A	(Likely) benign	1 lab	dd21e17303
12:49580615 TUBA1A C>T	12	49580615	49580615	C	T	TUBA1A	c.5G>A	NM_006009.3	NP_006000.2:p.(Arg2His)	NC_000012.11:g.49580615C>T	(Likely) pathogenic	1 lab	dd225a510f
22:42575689 TCF20 T>G	22	42575689	42575689	T	G	TCF20	c.5675A>C	NM_005650.3	NP_005641.1:p.(Glu1892Ala)	NC_000022.10:g.42575689T>G	VUS	1 lab	dd234c50ca
2:233697763 GIGYF2 T>TGCA	2	233697763	233697781	T	TGCA	GIGYF2	c.2805_2807dup	NM_001103147.1	NP_001096617.1:p.(Gln938dup)	NC_000002.11:g.233697779_233697781dup	VUS	1 lab	dd25156de5
9:2192726 SMARCA2 C>T	9	2192726	2192726	C	T	SMARCA2	c.4760C>T	NM_003070.4	NP_003061.3:p.(Thr1587Met)	NC_000009.11:g.2192726C>T	VUS	1 lab	dd26a5e7bb
14:20943302 PNP G>C	14	20943302	20943302	G	C	PNP	c.543G>C	NM_000270.3	NP_000261.2:p.(Met181Ile)	NC_000014.8:g.20943302G>C	(Likely) benign	1 lab	dd270f84a9
3:71064744 FOXP1 C>T	3	71064744	71064744	C	T	FOXP1	c.930G>A	NM_001244808.1	NP_001231737.1:p.(Trp310Ter)	NC_000003.11:g.71064744C>T	(Likely) pathogenic	1 lab	dd2880f4ab
11:47364686 MYBPC3 CAA>C	11	47364686	47364689	CAA	C	MYBPC3	c.1235_1236del	NM_000256.3	NP_000247.2:p.(Phe412Ter)	NC_000011.9:g.47364688_47364689del	(Likely) pathogenic	1 lab	dd28afd2f6
11:62124580 ASRGL1 A>G	11	62124580	62124580	A	G	ASRGL1	c.455A>G	NM_025080.3	NP_079356.3:p.(Lys152Arg)	NC_000011.9:g.62124580A>G	VUS	1 lab	dd28fba4b9
15:67457485 SMAD3 G>C	15	67457485	67457485	G	C	SMAD3	c.400+59G>C	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457485G>C	(Likely) benign	1 lab	dd2a69d3cf
1:19545830 EMC1 T>C	1	19545830	19545830	T	C	EMC1	c.2949A>G	NM_015047.2	NP_055862.1:p.(Ala983=)	NC_000001.10:g.19545830T>C	(Likely) benign	1 lab	dd2a83ef9a
5:176675248 NSD1 G>T	5	176675248	176675248	G	T	NSD1	c.4564G>T	NM_022455.4	NP_071900.2:p.(Asp1522Tyr)	NC_000005.9:g.176675248G>T	(Likely) benign	1 lab	dd2b65b2f4
21:47571510 FTCD C>T	21	47571510	47571510	C	T	FTCD	c.598G>A	NM_001320412.1	NP_001307341.1:p.(Ala200Thr)	NC_000021.8:g.47571510C>T	VUS	1 lab	dd2be414e1
7:45039964 CCM2 T>C	7	45039964	45039964	T	C	CCM2	c.30+2T>C	NM_031443.3	NP_113631.1:p.?	NC_000007.13:g.45039964T>C	(Likely) pathogenic	1 lab	dd2c42ff8e
21:47857006 PCNT G>A	21	47857006	47857006	G	A	PCNT	c.9099+12G>A	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47857006G>A	(Likely) benign	1 lab	dd2d436feb
X:153186872 ARHGAP4 G>A	X	153186872	153186872	G	A	ARHGAP4	c.381C>T	NM_001164741.1	NP_001158213.1:p.(Pro127=)	NC_000023.10:g.153186872G>A	(Likely) benign	1 lab	dd2d7c8f31
16:50731161 NOD2 G>C	16	50731161	50731161	G	C	NOD2	c.7G>C	NM_022162.1	NP_071445.1:p.(Glu3Gln)	NC_000016.9:g.50731161G>C	(Likely) benign	1 lab	dd2d911e8e
X:15474134 PIR C>T	X	15474134	15474134	C	T	PIR	c.317G>A	NM_003662.3	NP_003653.1:p.(Cys106Tyr)	NC_000023.10:g.15474134C>T	VUS	1 lab	dd2ed02339
7:117144390 CFTR C>A	7	117144390	117144390	C	A	CFTR	c.137C>A	NM_000492.3	NP_000483.3:p.(Ala46Asp)	NC_000007.13:g.117144390C>A	(Likely) pathogenic	1 lab	dd2feacb73
2:230668415 TRIP12 G>C	2	230668415	230668415	G	C	TRIP12	c.2880-10C>G	NM_001348322.1	NP_001335251.1:p.?	NC_000002.11:g.230668415G>C	(Likely) benign	1 lab	dd329e9c8b
21:45713720 AIRE G>A	21	45713720	45713720	G	A	AIRE				NC_000021.8:g.45713720G>A	VUS	1 lab	de81f06b9d
2:21229384 APOB AG>A	2	21229384	21229386	AG	A	APOB	c.10355del	NM_000384.3	NP_000375.3:p.(Pro3452LeufsTer70)	NC_000002.11:g.21229386del	(Likely) pathogenic	1 lab	dd32b05434
2:170068710 LRP2 G>A	2	170068710	170068710	G	A	LRP2	c.6048C>T	NM_004525.3	NP_004516.2:p.(Ala2016=)	NC_000002.11:g.170068710G>A	(Likely) benign	1 lab	dd32f8d1a6
12:113416450 OAS2 G>A	12	113416450	113416450	G	A	OAS2	c.37G>A	NM_002535.2	NP_002526.2:p.(Ala13Thr)	NC_000012.11:g.113416450G>A	(Likely) benign	1 lab	dd33025eda
15:45386839 DUOX2 C>T	15	45386839	45386839	C	T	DUOX2	c.4446G>A	NM_001363711.1	NP_001350640.1:p.(Thr1482=)	NC_000015.9:g.45386839C>T	(Likely) benign	1 lab	dd355afe92
6:31833765 SLC44A4 G>C	6	31833765	31833765	G	C	SLC44A4	c.1144C>G	NM_001178045.1	NP_001171516.1:p.(Leu382Val)	NC_000006.11:g.31833765G>C	VUS	1 lab	dd3595cb10
9:100133877 CCDC180 G>C	9	100133877	100133877	G	C	CCDC180	c.4621G>C	NM_020893.3	NP_065944.2:p.(Glu1541Gln)	NC_000009.11:g.100133877G>C	VUS	1 lab	dd36bd80d8
1:11851003 MTHFR G>C	1	11851003	11851003	G	C	MTHFR	c.1876-48C>G	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11851003G>C	(Likely) benign	1 lab	dd39870599
15:73024018 BBS4 G>A	15	73024018	73024018	G	A	BBS4	c.987G>A	NM_033028.4	NP_149017.2:p.(Ala329=)	NC_000015.9:g.73024018G>A	(Likely) benign	1 lab	dd3ad50e9d
13:111102010 COL4A2 C>T	13	111102010	111102010	C	T	COL4A2	c.1079-16C>T	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111102010C>T	(Likely) benign	1 lab	dd3c3c0399
16:2550377 TBC1D24 G>A	16	2550377	2550377	G	A	TBC1D24	c.1411G>A	NM_001199107.1	NP_001186036.1:p.(Ala471Thr)	NC_000016.9:g.2550377G>A	(Likely) benign	1 lab	dd3d90d1df
11:57558849 CTNND1 C>G	11	57558849	57558849	C	G	CTNND1	c.-94-8C>G	NM_001085458.1	NP_001078927.1:p.?	NC_000011.9:g.57558849C>G	(Likely) benign	1 lab	dd3e14da61
3:124431782 KALRN A>G	3	124431782	124431782	A	G	KALRN	c.8076A>G	NM_001024660.4	NP_001019831.2:p.(Arg2692=)	NC_000003.11:g.124431782A>G	(Likely) benign	1 lab	dd40c04437
11:14852312 PDE3B G>A	11	14852312	14852312	G	A	PDE3B	c.1876G>A	NM_000922.4	NP_000913.2:p.(Glu626Lys)	NC_000011.9:g.14852312G>A	(Likely) benign	1 lab	dd40c27237
15:72103152 NR2E3 C>T	15	72103152	72103152	C	T	NR2E3	c.69C>T	NM_016346.3	NP_057430.1:p.(Ala23=)	NC_000015.9:g.72103152C>T	(Likely) benign	1 lab	dd414659db
19:36564418 WDR62 C>T	19	36564418	36564418	C	T	WDR62	c.1218C>T	NM_001083961.1	NP_001077430.1:p.(Tyr406=)	NC_000019.9:g.36564418C>T	(Likely) benign	1 lab	dd416155e4
15:85342011 ZNF592 C>T	15	85342011	85342011	C	T	ZNF592	c.2929C>T	NM_014630.2	NP_055445.2:p.(Arg977Trp)	NC_000015.9:g.85342011C>T	VUS	1 lab	dd41749c70
12:20968677 SLCO1B3 A>C	12	20968677	20968677	A	C	SLCO1B3	c.5A>C	NM_019844.3	NP_062818.1:p.(Asp2Ala)	NC_000012.11:g.20968677A>C	(Likely) benign	1 lab	dd4212867a
X:3238974 MXRA5 C>G	X	3238974	3238974	C	G	MXRA5	c.4752G>C	NM_015419.3	NP_056234.2:p.(Arg1584Ser)	NC_000023.10:g.3238974C>G	(Likely) benign	1 lab	dd430d70f9
19:43406585 PSG6 T>A	19	43406585	43406585	T	A	PSG6	c.1254A>T	NM_001031850.3	NP_001027020.1:p.(Gly418=)	NC_000019.9:g.43406585T>A	VUS	1 lab	dd438c6b7d
X:107834858 COL4A5 A>G	X	107834858	107834858	A	G	COL4A5	c.1407A>G	NM_033380.2	NP_203699.1:p.(Gly469=)	NC_000023.10:g.107834858A>G	(Likely) benign	1 lab	dd43d8388d
11:1262540 MUC5B C>T	11	1262540	1262540	C	T	MUC5B	c.4430C>T	NM_002458.2	NP_002449.2:p.(Thr1477Met)	NC_000011.9:g.1262540C>T	(Likely) benign	1 lab	dd4598c229
X:41012263 USP9X A>G	X	41012263	41012263	A	G	USP9X	c.1826A>G	NM_001039590.2	NP_001034679.2:p.(Asn609Ser)	NC_000023.10:g.41012263A>G	VUS	1 lab	dd47306635
5:146258290 PPP2R2B A>AGCTGCTGCT	5	146258290	146258322	A	AGCTGCTGCT	PPP2R2B	c.49_57dup	NM_181675.3	NP_858061.2:p.(Ser17_Ser19dup)	NC_000005.9:g.146258314_146258322dup	(Likely) benign	1 lab	dd48449224
1:12004650 PLOD1 C>T	1	12004650	12004650	C	T	PLOD1	c.148C>T	NM_001316320.1	NP_001303249.1:p.(Leu50=)	NC_000001.10:g.12004650C>T	(Likely) benign	1 lab	dd497c3c2c
X:153042434 PLXNB3 G>C	X	153042434	153042434	G	C	PLXNB3	c.4995G>C	NM_001163257.1	NP_001156729.1:p.(Glu1665Asp)	NC_000023.10:g.153042434G>C	VUS	1 lab	dd4ab8ad0f
7:107599808 LAMB1 C>A	7	107599808	107599808	C	A	LAMB1	c.2576G>T	NM_002291.2	NP_002282.2:p.(Trp859Leu)	NC_000007.13:g.107599808C>A	VUS	1 lab	dd4c63435b
11:66488743 SPTBN2 G>T	11	66488743	66488743	G	T	SPTBN2	c.-22-10C>A	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66488743G>T	VUS	1 lab	dd4c6826cf
3:132407624 NPHP3 T>C	3	132407624	132407624	T	C	NPHP3	c.2995A>G	NM_153240.4	NP_694972.3:p.(Lys999Glu)	NC_000003.11:g.132407624T>C	VUS	1 lab	dd4d1789d0
14:96781918 ATG2B T>C	14	96781918	96781918	T	C	ATG2B	c.3364A>G	NM_018036.6	NP_060506.5:p.(Ile1122Val)	NC_000014.8:g.96781918T>C	(Likely) benign	1 lab	dd4d4bd392
20:57876553 EDN3 AGAGACTGTGGCTGGCCCTGGCGAG>A	20	57876553	57876602	AGAGACTGTGGCTGGCCCTGGCGAG	A	EDN3	c.167_190del	NM_207034.3	NP_996917.1:p.(Glu56_Glu63del)	NC_000020.10:g.57876579_57876602del	(Likely) benign	1 lab	dd4e2125cb
12:100453146 BLTP3B T>TA	12	100453146	100453153	T	TA	BLTP3B	c.1908dup	NM_015054.2	NP_055869.1:p.(Ser637Ter)	NC_000012.11:g.100453153dup	VUS	1 lab	dd50e9b878
2:242429446 FARP2 G>T	2	242429446	242429446	G	T	FARP2	c.2491G>T	NM_014808.4	NP_055623.1:p.(Val831Leu)	NC_000002.11:g.242429446G>T	VUS	1 lab	dd50f04f71
5:169446122 DOCK2 G>C	5	169446122	169446122	G	C	DOCK2	c.3381+10G>C	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169446122G>C	(Likely) benign	1 lab	dd521a7c8d
6:41754598 PRICKLE4 C>T	6	41754598	41754598	C	T	PRICKLE4	c.886C>T	NM_013397.5	NP_037529.3:p.(Leu296=)	NC_000006.11:g.41754598C>T	(Likely) benign	1 lab	dd5302c0d6
16:1401971 GNPTG C>T	16	1401971	1401971	C	T	GNPTG	c.5C>T	NM_032520.4	NP_115909.1:p.(Ala2Val)	NC_000016.9:g.1401971C>T	(Likely) benign	1 lab	dd5305db2d
12:53184014 KRT3 C>G	12	53184014	53184014	C	G	KRT3	c.1699G>C	NM_057088.2	NP_476429.2:p.(Gly567Arg)	NC_000012.11:g.53184014C>G	VUS	1 lab	dd538bd0e1
15:57523338 TCF12 T>C	15	57523338	57523338	T	C	TCF12	c.580-12T>C	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57523338T>C	(Likely) benign	1 lab	dd55757916
X:149767091 MTM1 C>T	X	149767091	149767091	C	T	MTM1	c.172C>T	NM_000252.2	NP_000243.1:p.(Pro58Ser)	NC_000023.10:g.149767091C>T	VUS	1 lab	dd55be5608
10:67680268 CTNNA3 C>A	10	67680268	67680268	C	A	CTNNA3	c.2508G>T	NM_013266.3	NP_037398.2:p.(Gln836His)	NC_000010.10:g.67680268C>A	VUS	1 lab	dd56bbd20e
19:11098501 SMARCA4 C>T	19	11098501	11098501	C	T	SMARCA4	c.1019C>T	NM_001128844.1	NP_001122316.1:p.(Ala340Val)	NC_000019.9:g.11098501C>T	(Likely) benign	1 lab	dd5742d1b5
16:84046628 SLC38A8 C>T	16	84046628	84046628	C	T	SLC38A8	c.1192G>A	NM_001080442.2	NP_001073911.1:p.(Glu398Lys)	NC_000016.9:g.84046628C>T	VUS	1 lab	dd59e2e035
9:135984208 RALGDS C>A	9	135984208	135984208	C	A	RALGDS	c.630G>T	NM_006266.4	NP_006257.1:p.(Glu210Asp)	NC_000009.11:g.135984208C>A	VUS	1 lab	dd5b84a45e
1:57420407 C8B C>A	1	57420407	57420407	C	A	C8B	c.329G>T	NM_001278543.1	NP_001265472.1:p.(Cys110Phe)	NC_000001.10:g.57420407C>A	VUS	1 lab	dd5c52b04d
15:23610132 GOLGA8S T>C	15	23610132	23610132	T	C	GOLGA8S	c.1090T>C	NM_001355465.1	NP_001342394.1:p.(Ser364Pro)	NC_000015.9:g.23610132T>C	VUS	1 lab	dd5c9363ba
22:38528933 PLA2G6 T>G	22	38528933	38528933	T	G	PLA2G6	c.982A>C	NM_003560.2	NP_003551.2:p.(Asn328His)	NC_000022.10:g.38528933T>G	VUS	1 lab	dd5d1b32e6
6:129766882 LAMA2 C>T	6	129766882	129766882	C	T	LAMA2	c.6345C>T	NM_000426.3	NP_000417.2:p.(Pro2115=)	NC_000006.11:g.129766882C>T	(Likely) benign	1 lab	dd5df7c3c5
1:12854383 PRAMEF1 T>C	1	12854383	12854383	T	C	PRAMEF1	c.607T>C	NM_023013.4	NP_075389.2:p.(Tyr203His)	NC_000001.10:g.12854383T>C	(Likely) benign	1 lab	dd6083c57d
7:107599839 LAMB1 G>C	7	107599839	107599839	G	C	LAMB1	c.2545C>G	NM_002291.2	NP_002282.2:p.(Arg849Gly)	NC_000007.13:g.107599839G>C	VUS	1 lab	dd611f0324
3:128603551 ACAD9 A>G	3	128603551	128603551	A	G	ACAD9	c.206A>G	NM_014049.4	NP_054768.2:p.(Gln69Arg)	NC_000003.11:g.128603551A>G	VUS	1 lab	dd61731455
17:48703929 CACNA1G G>A	17	48703929	48703929	G	A	CACNA1G	c.6951G>A	NM_018896.4	NP_061496.2:p.(Glu2317=)	NC_000017.10:g.48703929G>A	(Likely) benign	1 lab	dd640deb04
10:112540730 RBM20 C>T	10	112540730	112540730	C	T	RBM20	c.363C>T	NM_001134363.1	NP_001127835.1:p.(Asn121=)	NC_000010.10:g.112540730C>T	(Likely) benign	1 lab	dd656374c2
11:108168123 ATM A>T	11	108168123	108168123	A	T	ATM	c.5005+14A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108168123A>T	(Likely) benign	1 lab	dd65e0a499
20:62129063 EEF1A2 G>C	20	62129063	62129063	G	C	EEF1A2	c.54C>G	NM_001958.3	NP_001949.1:p.(Ser18=)	NC_000020.10:g.62129063G>C	(Likely) benign	1 lab	dd6820b83a
5:150924648 FAT2 T>C	5	150924648	150924648	T	C	FAT2	c.6040A>G	NM_001447.2	NP_001438.1:p.(Met2014Val)	NC_000005.9:g.150924648T>C	VUS	1 lab	dd6ba285f7
22:37260081 NCF4 G>A	22	37260081	37260081	G	A	NCF4	c.33-6G>A	NM_013416.3	NP_038202.2:p.?	NC_000022.10:g.37260081G>A	(Likely) benign	1 lab	dd6bc29e56
10:118897442 VAX1 G>A	10	118897442	118897442	G	A	VAX1	c.126C>T	NM_199131.2	NP_954582.1:p.(Ala42=)	NC_000010.10:g.118897442G>A	(Likely) benign	1 lab	dd6dc217f5
14:21990950 SALL2 G>A	14	21990950	21990950	G	A	SALL2	c.2912C>T	NM_005407.2	NP_005398.2:p.(Pro971Leu)	NC_000014.8:g.21990950G>A	VUS	1 lab	dd6efd0b85
21:34950637 DONSON GTC>G	21	34950637	34950643	GTC	G	DONSON	c.1675_1676del	NM_017613.4	NP_060083.1:p.(Asp559LeufsTer4)	NC_000021.8:g.34950642_34950643del	VUS	1 lab	dd6f8ead0c
10:97453498 TCTN3 C>T	10	97453498	97453498	C	T	TCTN3	c.159G>A	NM_015631.5	NP_056446.4:p.(Ala53=)	NC_000010.10:g.97453498C>T	(Likely) benign	1 lab	dd6f9d2582
15:40914065 KNL1 A>T	15	40914065	40914065	A	T	KNL1	c.1681A>T	NM_170589.4	NP_733468.3:p.(Asn561Tyr)	NC_000015.9:g.40914065A>T	VUS	1 lab	dd72530864
2:74589792 DCTN1 G>A	2	74589792	74589792	G	A	DCTN1	c.3594C>T	NM_004082.4	NP_004073.2:p.(Thr1198=)	NC_000002.11:g.74589792G>A	(Likely) benign	1 lab	dd72904c4e
11:6640039 TPP1 TGCA>T	11	6640039	6640042	TGCA	T	TPP1	c.194_196del	NM_000391.4	NP_000382.3:p.(Val65_Gln66delinsGlu)	NC_000011.9:g.6640040_6640042del	VUS	1 lab	dd73403840
16:2111903 TSC2 T>A	16	2111903	2111903	T	A	TSC2	c.1151T>A	NM_000548.3	NP_000539.2:p.(Val384Asp)	NC_000016.9:g.2111903T>A	(Likely) pathogenic	1 lab	dd793379f1
17:58740535 PPM1D AG>A	17	58740535	58740536	AG	A	PPM1D	c.1441del	NM_003620.4	NP_003611.1:p.(Ala481ProfsTer2)	NC_000017.10:g.58740536del	(Likely) pathogenic	1 lab	dd7a1372ab
15:99478718 IGF1R TCC>T	15	99478718	99478721	TCC	T	IGF1R	c.3297+65_3297+66del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99478720_99478721del	(Likely) benign	1 lab	dd7a52a58a
19:39055767 RYR1 G>C	19	39055767	39055767	G	C	RYR1	c.12793G>C	NM_000540.2	NP_000531.2:p.(Ala4265Pro)	NC_000019.9:g.39055767G>C	(Likely) benign	1 lab	dd7e262a68
10:64136218 ZNF365 G>A	10	64136218	64136218	G	A	ZNF365	c.266G>A	NM_014951.3	NP_055766.2:p.(Gly89Asp)	NC_000010.10:g.64136218G>A	(Likely) benign	1 lab	dd812da03f
4:15005209 CPEB2 G>A	4	15005209	15005209	G	A	CPEB2	c.912G>A	NM_001177382.1	NP_001170853.1:p.(Ser304=)	NC_000004.11:g.15005209G>A	(Likely) benign	1 lab	dd8296c228
3:3170767 TRNT1 C>T	3	3170767	3170767	C	T	TRNT1	c.43C>T	NM_001367321.1	NP_001354250.1:p.(Arg15Cys)	NC_000003.11:g.3170767C>T	VUS	1 lab	dd82e0939c
12:58123508 AGAP2 G>A	12	58123508	58123508	G	A	AGAP2	c.2471C>T	NM_001122772.2	NP_001116244.1:p.(Pro824Leu)	NC_000012.11:g.58123508G>A	VUS	1 lab	dd82e8e19c
17:7592597 WRAP53 G>C	17	7592597	7592597	G	C	WRAP53	c.487G>C	NM_018081.2	NP_060551.2:p.(Glu163Gln)	NC_000017.10:g.7592597G>C	VUS	1 lab	dd831b5203
1:17312558 ATP13A2 A>C	1	17312558	17312558	A	C	ATP13A2	c.3399T>G	NM_001141974.2	NP_001135446.1:p.(Val1133=)	NC_000001.10:g.17312558A>C	(Likely) benign	1 lab	dd852ddef3
1:12025621 PLOD1 G>A	1	12025621	12025621	G	A	PLOD1	c.1555G>A	NM_000302.3	NP_000293.2:p.(Asp519Asn)	NC_000001.10:g.12025621G>A	VUS	1 lab	dd8687ca7c
12:53162772 KRT76 C>CGCT	12	53162772	53162773	C	CGCT	KRT76	c.1641_1642insAGC	NM_015848.4	NP_056932.2:p.(Ser547dup)	NC_000012.11:g.53162772_53162773insGCT	VUS	1 lab	dd869a874c
2:109356996 RANBP2 G>A	2	109356996	109356996	G	A	RANBP2	c.834G>A	NM_006267.4	NP_006258.3:p.(Leu278=)	NC_000002.11:g.109356996G>A	(Likely) benign	1 lab	dd87362470
16:2112983 TSC2 C>T	16	2112983	2112983	C	T	TSC2	c.1372C>T	NM_000548.3	NP_000539.2:p.(Arg458Ter)	NC_000016.9:g.2112983C>T	(Likely) pathogenic	1 lab	dd892ab059
1:11831652 C1orf167 G>C	1	11831652	11831652	G	C	C1orf167	c.1769G>C	NM_001010881.1	NP_001010881.1:p.(Arg590Thr)	NC_000001.10:g.11831652G>C	(Likely) benign	1 lab	dd89b23ca5
16:88499128 ZNF469 T>C	16	88499128	88499128	T	C	ZNF469				NC_000016.9:g.88499128T>C	(Likely) benign	1 lab	dd8a5a14e9
18:42281745 SETBP1 G>GA	18	42281745	42281751	G	GA	SETBP1	c.440dup	NM_015559.3	NP_056374.2:p.(Asn147LysfsTer2)	NC_000018.9:g.42281751dup	(Likely) pathogenic	1 lab	dd8ac7630a
1:91784845 HFM1 CAT>C	1	91784845	91784848	CAT	C	HFM1	c.2680+3_2680+4del	NM_001017975.6	NP_001017975.5:p.?	NC_000001.10:g.91784847_91784848del	VUS	1 lab	dd8ba876a9
19:46285533 DMPK G>A	19	46285533	46285533	G	A	DMPK	c.97C>T	NM_001288764.1	NP_001275693.1:p.(Arg33Ter)	NC_000019.9:g.46285533G>A	VUS	1 lab	dd8ca6d0d0
X:8434401 VCX3B A>G	X	8434401	8434401	A	G	VCX3B	c.718A>G	NM_001001888.3	NP_001001888.3:p.(Met240Val)	NC_000023.10:g.8434401A>G	(Likely) benign	1 lab	dd8d6430aa
17:38856487 KRT24 C>A	17	38856487	38856487	C	A	KRT24	c.1004G>T	NM_019016.2	NP_061889.2:p.(Arg335Leu)	NC_000017.10:g.38856487C>A	(Likely) benign	1 lab	dd8e50ee3d
X:130416960 IGSF1 C>T	X	130416960	130416960	C	T	IGSF1	c.946G>A	NM_001170961.1	NP_001164432.1:p.(Val316Met)	NC_000023.10:g.130416960C>T	VUS	1 lab	dd8e922377
3:185191300 MAP3K13 C>T	3	185191300	185191300	C	T	MAP3K13	c.2181C>T	NM_004721.5	NP_004712.1:p.(Asp727=)	NC_000003.11:g.185191300C>T	(Likely) benign	1 lab	dd8f1ec967
2:231086432 SP110 C>T	2	231086432	231086432	C	T	SP110	c.5G>A	NM_001185015.1	NP_001171944.1:p.(Gly2Glu)	NC_000002.11:g.231086432C>T	VUS	1 lab	dd90e74c39
4:6303469 WFS1 C>T	4	6303469	6303469	C	T	WFS1	c.1947C>T	NM_006005.3	NP_005996.2:p.(Phe649=)	NC_000004.11:g.6303469C>T	(Likely) benign	1 lab	dd90ef27a8
14:102552150 HSP90AA1 C>T	14	102552150	102552150	C	T	HSP90AA1	c.840G>A	NM_001017963.2	NP_001017963.2:p.(Glu280=)	NC_000014.8:g.102552150C>T	(Likely) benign	1 lab	dd91b6efa4
9:127255422 NR5A1 C>T	9	127255422	127255422	C	T	NR5A1	c.877G>A	NM_004959.4	NP_004950.2:p.(Asp293Asn)	NC_000009.11:g.127255422C>T	(Likely) pathogenic	1 lab	dd94b7fa97
16:30768188 PHKG2 C>G	16	30768188	30768188	C	G	PHKG2	c.991C>G	NM_000294.2	NP_000285.1:p.(Leu331Val)	NC_000016.9:g.30768188C>G	VUS	1 lab	dd951ff98f
9:13168528 MPDZ T>C	9	13168528	13168528	T	C	MPDZ	c.3091A>G	NM_003829.4	NP_003820.2:p.(Met1031Val)	NC_000009.11:g.13168528T>C	(Likely) benign	1 lab	dd955ed12e
17:73494371 TMEM94 A>G	17	73494371	73494371	A	G	TMEM94	c.3605A>G	NM_014738.5	NP_055553.3:p.(Asn1202Ser)	NC_000017.10:g.73494371A>G	VUS	1 lab	dd9732ec4e
7:92141003 PEX1 A>C	7	92141003	92141003	A	C	PEX1	c.750T>G	NM_001282678.1	NP_001269607.1:p.(Ser250Arg)	NC_000007.13:g.92141003A>C	VUS	1 lab	dd997a0800
3:45963300 FYCO1 G>A	3	45963300	45963300	G	A	FYCO1	c.4394C>T	NM_024513.3	NP_078789.2:p.(Thr1465Met)	NC_000003.11:g.45963300G>A	VUS	1 lab	dd99ba258f
2:182521490 CERKL A>G	2	182521490	182521490	A	G	CERKL	c.238+6T>C	NM_001030311.2	NP_001025482.1:p.?	NC_000002.11:g.182521490A>G	(Likely) benign	1 lab	dd9a6a7b19
17:29508778 NF1 C>T	17	29508778	29508778	C	T	NF1	c.705C>T	NM_000267.3	NP_000258.1:p.(Tyr235=)	NC_000017.10:g.29508778C>T	(Likely) benign	1 lab	dd9b8458c8
10:70646026 STOX1 A>T	10	70646026	70646026	A	T	STOX1	c.2474A>T	NM_152709.5	NP_689922.3:p.(Asn825Ile)	NC_000010.10:g.70646026A>T	(Likely) benign	1 lab	dd9c7b6f14
19:32928143 DPY19L3 G>A	19	32928143	32928143	G	A	DPY19L3	c.494G>A	NM_207325.2	NP_997208.2:p.(Gly165Glu)	NC_000019.9:g.32928143G>A	VUS	1 lab	dd9c8dea53
7:150812173 AGAP3 C>A	7	150812173	150812173	C	A	AGAP3	c.316C>A	NM_001308305.1	NP_001295234.1:p.(Pro106Thr)	NC_000007.13:g.150812173C>A	(Likely) benign	1 lab	dda0012567
X:96330213 DIAPH2 G>A	X	96330213	96330213	G	A	DIAPH2	c.2200G>A	NM_006729.4	NP_006720.1:p.(Val734Ile)	NC_000023.10:g.96330213G>A	(Likely) benign	1 lab	dda0660dde
20:33581971 MYH7B T>C	20	33581971	33581971	T	C	MYH7B	c.2593T>C	NM_020884.4	NP_065935.3:p.(Trp865Arg)	NC_000020.10:g.33581971T>C	VUS	1 lab	dda06fce1f
16:51174298 SALL1 GCTTCCTCTGGGAGC>G	16	51174298	51174313	GCTTCCTCTGGGAGC	G	SALL1	c.1821_1834del	NM_002968.3	NP_002959.2:p.(Leu608ArgfsTer28)	NC_000016.9:g.51174300_51174313del	(Likely) pathogenic	1 lab	dda0b548d7
7:105190919 RINT1 C>T	7	105190919	105190919	C	T	RINT1	c.1319C>T	NM_021930.5	NP_068749.3:p.(Thr440Met)	NC_000007.13:g.105190919C>T	VUS	1 lab	dda284f7a4
5:79747384 ZFYVE16 A>G	5	79747384	79747384	A	G	ZFYVE16	c.3463A>G	NM_001105251.3	NP_001098721.1:p.(Ile1155Val)	NC_000005.9:g.79747384A>G	VUS	1 lab	dda42cf08d
7:1515593 INTS1 G>A	7	1515593	1515593	G	A	INTS1	c.5493C>T	NM_001080453.3	NP_001073922.2:p.(Ser1831=)	NC_000007.13:g.1515593G>A	(Likely) benign	1 lab	dda699d51d
5:34939043 DNAJC21 A>G	5	34939043	34939043	A	G	DNAJC21	c.824A>G	NM_194283.3	NP_919259.3:p.(Tyr275Cys)	NC_000005.9:g.34939043A>G	VUS	1 lab	dda7fb5a12
15:48779514 FBN1 C>A	15	48779514	48779514	C	A	FBN1	c.3458G>T	NM_000138.4	NP_000129.3:p.(Cys1153Phe)	NC_000015.9:g.48779514C>A	VUS	1 lab	dda8126e49
X:47497540 ELK1 T>G	X	47497540	47497540	T	G	ELK1	c.696A>C	NM_001114123.2	NP_001107595.1:p.(Glu232Asp)	NC_000023.10:g.47497540T>G	(Likely) benign	1 lab	dda89c99ff
3:46742990 TMIE C>T	3	46742990	46742990	C	T	TMIE	c.13C>T	NM_147196.2	NP_671729.2:p.(Pro5Ser)	NC_000003.11:g.46742990C>T	(Likely) benign	1 lab	ddac363613
13:40229975 COG6 A>T	13	40229975	40229975	A	T	COG6	c.112A>T	NM_001145079.1	NP_001138551.1:p.(Lys38Ter)	NC_000013.10:g.40229975A>T	VUS	1 lab	ddac9c3d62
9:133960931 LAMC3 C>T	9	133960931	133960931	C	T	LAMC3	c.4051C>T	NM_006059.3	NP_006050.3:p.(Arg1351Trp)	NC_000009.11:g.133960931C>T	VUS	1 lab	ddacc22312
X:47306859 ZNF41 A>G	X	47306859	47306859	A	G	ZNF41	c.2310T>C	NM_007130.3	NP_009061.1:p.(Ser770=)	NC_000023.10:g.47306859A>G	(Likely) benign	1 lab	ddb06b851a
7:74217714 GTF2IRD2 G>T	7	74217714	74217714	G	T	GTF2IRD2	c.1142C>A	NM_173537.3	NP_775808.3:p.(Ala381Asp)	NC_000007.13:g.74217714G>T	VUS	1 lab	ddb2bf857b
18:47429197 MYO5B T>C	18	47429197	47429197	T	C	MYO5B	c.2578A>G	NM_001080467.2	NP_001073936.1:p.(Met860Val)	NC_000018.9:g.47429197T>C	(Likely) benign	1 lab	ddb31b81aa
X:106769833 FRMPD3 C>T	X	106769833	106769833	C	T	FRMPD3	c.114C>T	NM_032428.2	NP_115804.1:p.(Ser38=)	NC_000023.10:g.106769833C>T	(Likely) benign	1 lab	ddb4649028
3:132427030 NPHP3 C>T	3	132427030	132427030	C	T	NPHP3	c.1190G>A	NM_153240.4	NP_694972.3:p.(Arg397His)	NC_000003.11:g.132427030C>T	VUS	1 lab	ddb509bbcb
X:30268901 MAGEB1 A>G	X	30268901	30268901	A	G	MAGEB1	c.291A>G	NM_002363.4	NP_002354.2:p.(Thr97=)	NC_000023.10:g.30268901A>G	(Likely) benign	1 lab	ddb6c7442c
4:520962 PIGG G>A	4	520962	520962	G	A	PIGG	c.1106G>A	NM_001345994.1	NP_001332923.1:p.(Arg369Gln)	NC_000004.11:g.520962G>A	VUS	1 lab	ddb722adaa
9:117853212 TNC A>G	9	117853212	117853212	A	G	TNC	c.86T>C	NM_002160.3	NP_002151.2:p.(Ile29Thr)	NC_000009.11:g.117853212A>G	VUS	1 lab	ddb744e78d
4:39226528 WDR19 A>G	4	39226528	39226528	A	G	WDR19	c.1504A>G	NM_025132.3	NP_079408.3:p.(Ile502Val)	NC_000004.11:g.39226528A>G	(Likely) benign	1 lab	ddb758a141
12:40692083 LRRK2 TA>T	12	40692083	40692086	TA	T	LRRK2	c.3138del	NM_198578.4	NP_940980.4:p.(Lys1046AsnfsTer10)	NC_000012.11:g.40692086del	VUS	1 lab	ddb9149223
4:56876029 CEP135 G>A	4	56876029	56876029	G	A	CEP135	c.2465G>A	NM_025009.4	NP_079285.2:p.(Arg822Lys)	NC_000004.11:g.56876029G>A	VUS	1 lab	ddb9262a79
20:21227158 KIZ G>A	20	21227158	21227158	G	A	KIZ	c.1966G>A	NM_018474.5	NP_060944.3:p.(Ala656Thr)	NC_000020.10:g.21227158G>A	VUS	1 lab	ddb9644cb3
5:149497358 PDGFRB C>T	5	149497358	149497358	C	T	PDGFRB	c.2960G>A	NM_002609.3	NP_002600.1:p.(Arg987Gln)	NC_000005.9:g.149497358C>T	VUS	1 lab	ddbabfa993
17:76136926 TMC8 G>A	17	76136926	76136926	G	A	TMC8	c.1914G>A	NM_152468.4	NP_689681.2:p.(Glu638=)	NC_000017.10:g.76136926G>A	(Likely) benign	1 lab	ddbb631da6
9:135781176 TSC1 CA>C	9	135781176	135781179	CA	C	TSC1	c.1788del	NM_000368.5	NP_000359.1:p.(Phe596LeufsTer33)	NC_000009.11:g.135781179del	(Likely) pathogenic	1 lab	ddbd03d2bd
14:91770310 CCDC88C T>C	14	91770310	91770310	T	C	CCDC88C	c.3370A>G	NM_001080414.3	NP_001073883.2:p.(Thr1124Ala)	NC_000014.8:g.91770310T>C	VUS	1 lab	ddbd97b45f
7:107594066 LAMB1 C>T	7	107594066	107594066	C	T	LAMB1	c.2988G>A	NM_002291.2	NP_002282.2:p.(Arg996=)	NC_000007.13:g.107594066C>T	(Likely) benign	1 lab	ddbe0654e8
16:27374786 IL4R G>A	16	27374786	27374786	G	A	IL4R	c.2068G>A	NM_001257407.1	NP_001244336.1:p.(Asp690Asn)	NC_000016.9:g.27374786G>A	VUS	1 lab	ddbe1ba003
2:182784130 ITPRID2 G>A	2	182784130	182784130	G	A	ITPRID2	c.3101G>A	NM_001130445.3	NP_001123917.1:p.(Arg1034His)	NC_000002.11:g.182784130G>A	VUS	1 lab	ddbeb4e9af
18:59814255 PIGN C>T	18	59814255	59814255	C	T	PIGN	c.754G>A	NM_176787.4	NP_789744.1:p.(Asp252Asn)	NC_000018.9:g.59814255C>T	VUS	1 lab	ddbec44ff6
19:54313182 NLRP12 C>T	19	54313182	54313182	C	T	NLRP12	c.1731G>A	NM_001277126.1	NP_001264055.1:p.(Lys577=)	NC_000019.9:g.54313182C>T	(Likely) benign	1 lab	ddbf4a2fe7
11:108170550 ATM TAAAG>T	11	108170550	108170556	TAAAG	T	ATM	c.5118_5121del	NM_000051.4	NP_000042.3:p.(Lys1706AsnfsTer7)	NC_000011.9:g.108170553_108170556del	(Likely) pathogenic	1 lab	ddc0a6fa44
11:130060545 ST14 G>T	11	130060545	130060545	G	T	ST14	c.831G>T	NM_021978.3	NP_068813.1:p.(Thr277=)	NC_000011.9:g.130060545G>T	(Likely) benign	1 lab	ddc1107156
3:184076081 CLCN2 G>A	3	184076081	184076081	G	A	CLCN2	c.370C>T	NM_004366.5	NP_004357.3:p.(Arg124Trp)	NC_000003.11:g.184076081G>A	VUS	1 lab	ddc27f98a7
19:55255494 MISSING G>A	19	55255494	55255494	G	A	MISSING				NC_000019.9:g.55255494G>A	(Likely) benign	1 lab	ddc66d71ae
16:88494041 ZNF469 G>A	16	88494041	88494041	G	A	ZNF469				NC_000016.9:g.88494041G>A	VUS	1 lab	ddc70ef997
1:24418664 MYOM3 C>T	1	24418664	24418664	C	T	MYOM3	c.1232G>A	NM_152372.4	NP_689585.3:p.(Arg411Gln)	NC_000001.10:g.24418664C>T	VUS	1 lab	ddc784a884
15:48725099 FBN1 C>T	15	48725099	48725099	C	T	FBN1	c.6703G>A	NM_000138.4	NP_000129.3:p.(Gly2235Arg)	NC_000015.9:g.48725099C>T	VUS	1 lab	ddc7c17c38
2:48032123 MSH6 TAG>T	2	48032123	48032127	TAG	T	MSH6	c.3516_3517del	NM_000179.3	NP_000170.1:p.(Arg1172SerfsTer4)	NC_000002.11:g.48032126_48032127del	(Likely) pathogenic	1 lab	ddc89200fd
2:17692163 RAD51AP2 T>C	2	17692163	17692163	T	C	RAD51AP2	c.3361A>G	NM_001321233.1	NP_001308162.1:p.(Ile1121Val)	NC_000002.11:g.17692163T>C	VUS	1 lab	ddc8d4a68c
19:50813037 MYH14 A>C	19	50813037	50813037	A	C	MYH14	c.6101A>C	NM_001145809.1	NP_001139281.1:p.(His2034Pro)	NC_000019.9:g.50813037A>C	(Likely) benign	1 lab	ddc9f4a3a7
11:22301169 ANO5 G>T	11	22301169	22301169	G	T	ANO5	c.2600G>T	NM_213599.2	NP_998764.1:p.(Arg867Ile)	NC_000011.9:g.22301169G>T	VUS	1 lab	ddca3f1199
7:117251699 CFTR C>T	7	117251699	117251699	C	T	CFTR	c.3204C>T	NM_000492.3	NP_000483.3:p.(Phe1068=)	NC_000007.13:g.117251699C>T	(Likely) benign	1 lab	ddca9ba5a7
6:33135245 COL11A2 C>T	6	33135245	33135245	C	T	COL11A2	c.4080G>A	NM_080680.2	NP_542411.2:p.(Gly1360=)	NC_000006.11:g.33135245C>T	(Likely) benign	1 lab	ddcd7d4d46
2:238275411 COL6A3 C>T	2	238275411	238275411	C	T	COL6A3	c.5419G>A	NM_004369.3	NP_004360.2:p.(Glu1807Lys)	NC_000002.11:g.238275411C>T	VUS	1 lab	ddcdc16944
5:58285681 PDE4D G>A	5	58285681	58285681	G	A	PDE4D	c.585C>T	NM_001364604.1	NP_001351533.1:p.(Leu195=)	NC_000005.9:g.58285681G>A	(Likely) benign	1 lab	ddcf6f6fc0
22:32242883 DEPDC5 A>G	22	32242883	32242883	A	G	DEPDC5	c.3085A>G	NM_001242896.2	NP_001229825.1:p.(Thr1029Ala)	NC_000022.10:g.32242883A>G	(Likely) benign	1 lab	ddd03903ea
19:17316768 MYO9B G>A	19	17316768	17316768	G	A	MYO9B	c.5065-1G>A	NM_001130065.1	NP_001123537.1:p.?	NC_000019.9:g.17316768G>A	VUS	1 lab	ddd14c128f
21:34037301 SYNJ1 A>T	21	34037301	34037301	A	T	SYNJ1	c.2343T>A	NM_203446.2	NP_982271.2:p.(Val781=)	NC_000021.8:g.34037301A>T	(Likely) benign	1 lab	ddd234a669
13:20207923 MPHOSPH8 C>G	13	20207923	20207923	C	G	MPHOSPH8	c.35C>G	NM_017520.4	NP_059990.2:p.(Ala12Gly)	NC_000013.10:g.20207923C>G	(Likely) benign	1 lab	ddd3cd5f87
8:61735299 CHD7 TC>T	8	61735299	61735303	TC	T	CHD7	c.3199del	NM_017780.4	NP_060250.2:p.(Gln1067ArgfsTer4)	NC_000008.10:g.61735303del	(Likely) pathogenic	1 lab	ddd56a042d
19:3119199 GNA11 G>A	19	3119199	3119199	G	A	GNA11	c.736-5G>A	NM_002067.4	NP_002058.2:p.?	NC_000019.9:g.3119199G>A	(Likely) benign	1 lab	ddd6204443
X:154736591 TMLHE G>A	X	154736591	154736591	G	A	TMLHE	c.963C>T	NM_018196.3	NP_060666.1:p.(Ile321=)	NC_000023.10:g.154736591G>A	(Likely) benign	1 lab	ddd6d2de85
17:29554580 NF1 A>T	17	29554580	29554580	A	T	NF1	c.2365A>T	NM_000267.3	NP_000258.1:p.(Lys789Ter)	NC_000017.10:g.29554580A>T	(Likely) pathogenic	1 lab	ddd7fc4f88
17:29562935 NF1 G>A	17	29562935	29562935	G	A	NF1	c.3871-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562935G>A	(Likely) pathogenic	1 lab	ddd9624038
2:179428798 TTN A>C	2	179428798	179428798	A	C	TTN	c.82061T>G	NM_001267550.1	NP_001254479.1:p.(Val27354Gly)	NC_000002.11:g.179428798A>C	VUS	1 lab	ddd9f7e08e
20:3145191 LZTS3 C>G	20	3145191	3145191	C	G	LZTS3	c.1793G>C	NM_001282533.1	NP_001269462.1:p.(Gly598Ala)	NC_000020.10:g.3145191C>G	(Likely) benign	1 lab	dddc8cd04e
8:67976641 CSPP1 T>A	8	67976641	67976641	T	A	CSPP1	c.8T>A	NM_024790.6	NP_079066.5:p.(Phe3Tyr)	NC_000008.10:g.67976641T>A	(Likely) benign	1 lab	dddd20143b
6:74320132 SLC17A5 A>G	6	74320132	74320132	A	G	SLC17A5	c.1250T>C	NM_012434.4	NP_036566.1:p.(Ile417Thr)	NC_000006.11:g.74320132A>G	VUS	1 lab	dddd9ed62b
X:54975524 PFKFB1 A>T	X	54975524	54975524	A	T	PFKFB1	c.977T>A	NM_002625.3	NP_002616.2:p.(Leu326Gln)	NC_000023.10:g.54975524A>T	VUS	1 lab	ddde396e8a
2:172309724 DCAF17 G>A	2	172309724	172309724	G	A	DCAF17	c.627+1G>A	NM_025000.3	NP_079276.2:p.?	NC_000002.11:g.172309724G>A	(Likely) pathogenic	1 lab	dddf58d890
1:156142796 SEMA4A C>A	1	156142796	156142796	C	A	SEMA4A	c.1314C>A	NM_022367.4	NP_071762.2:p.(Thr438=)	NC_000001.10:g.156142796C>A	(Likely) benign	1 lab	dddf92b493
2:27448105 CAD T>C	2	27448105	27448105	T	C	CAD	c.1614T>C	NM_004341.4	NP_004332.2:p.(Leu538=)	NC_000002.11:g.27448105T>C	(Likely) benign	1 lab	dde0525bcc
7:98779647 KPNA7 C>T	7	98779647	98779647	C	T	KPNA7	c.1176G>A	NM_001145715.2	NP_001139187.1:p.(Ala392=)	NC_000007.13:g.98779647C>T	(Likely) benign	1 lab	dde0b46ab7
7:42004710 GLI3 CCT>C	7	42004710	42004712	CCT	C	GLI3	c.3959_3960del	NM_000168.6	NP_000159.3:p.(Gln1320ArgfsTer29)	NC_000007.13:g.42004711_42004712del	(Likely) pathogenic	1 lab	dde1f0931e
10:19493970 MALRD1 C>T	10	19493970	19493970	C	T	MALRD1	c.2354C>T	NM_001142308.3	NP_001135780.2:p.(Ser785Leu)	NC_000010.10:g.19493970C>T	(Likely) benign	1 lab	dde23acd8f
14:94849151 SERPINA1 G>A	14	94849151	94849151	G	A	SERPINA1	c.424C>T	NM_000295.4	NP_000286.3:p.(Leu142=)	NC_000014.8:g.94849151G>A	(Likely) benign	1 lab	dde3c1d6a5
2:179422633 TTN T>A	2	179422633	179422633	T	A	TTN	c.87448A>T	NM_001267550.1	NP_001254479.1:p.(Ile29150Leu)	NC_000002.11:g.179422633T>A	VUS	1 lab	dde40d1f08
11:640253 DRD4 C>G	11	640253	640253	C	G	DRD4	c.1004C>G	NM_000797.3	NP_000788.2:p.(Ala335Gly)	NC_000011.9:g.640253C>G	(Likely) benign	1 lab	dde52e202f
19:9085814 MUC16 A>G	19	9085814	9085814	A	G	MUC16	c.6001T>C	NM_024690.2	NP_078966.2:p.(Ser2001Pro)	NC_000019.9:g.9085814A>G	(Likely) benign	1 lab	dde639541c
10:102789758 PDZD7 G>A	10	102789758	102789758	G	A	PDZD7	c.219C>T	NM_001195263.1	NP_001182192.1:p.(Pro73=)	NC_000010.10:g.102789758G>A	(Likely) benign	1 lab	dde946da36
5:135385154 TGFBI C>A	5	135385154	135385154	C	A	TGFBI	c.798C>A	NM_000358.2	NP_000349.1:p.(Asn266Lys)	NC_000005.9:g.135385154C>A	VUS	1 lab	ddeaca3061
17:29653275 NF1 G>A	17	29653275	29653275	G	A	NF1	c.5205+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29653275G>A	(Likely) pathogenic	1 lab	ddec56cfff
11:57563967 CTNND1 A>G	11	57563967	57563967	A	G	CTNND1	c.459A>G	NM_001085458.1	NP_001078927.1:p.(Val153=)	NC_000011.9:g.57563967A>G	(Likely) benign	1 lab	ddec710d26
5:134041114 SEC24A A>G	5	134041114	134041114	A	G	SEC24A	c.2538A>G	NM_021982.3	NP_068817.1:p.(Leu846=)	NC_000005.9:g.134041114A>G	(Likely) benign	1 lab	ddef3b75b6
10:17088069 CUBN T>C	10	17088069	17088069	T	C	CUBN	c.3354A>G	NM_001081.3	NP_001072.2:p.(Pro1118=)	NC_000010.10:g.17088069T>C	(Likely) benign	1 lab	ddef52816c
X:71864203 PHKA1 TCTC>T	X	71864203	71864208	TCTC	T	PHKA1	c.1459+6_1459+8del	NM_002637.4	NP_002628.2:p.?	NC_000023.10:g.71864206_71864208del	(Likely) benign	1 lab	ddf16561a0
10:5782376 TASOR2 A>G	10	5782376	5782376	A	G	TASOR2	c.2243A>G	NM_001321784.1	NP_001308713.1:p.(Lys748Arg)	NC_000010.10:g.5782376A>G	(Likely) benign	1 lab	ddf76a7b56
7:151970959 KMT2C G>A	7	151970959	151970959	G	A	KMT2C	c.850-7C>T	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151970959G>A	(Likely) benign	1 lab	ddf96b7186
1:8029466 PARK7 T>TA	1	8029466	8029472	T	TA	PARK7	c.252+8dup	NM_001123377.1	NP_001116849.1:p.?	NC_000001.10:g.8029472dup	(Likely) benign	1 lab	ddf98007ce
5:180486552 BTNL9 T>C	5	180486552	180486552	T	C	BTNL9	c.1298T>C	NM_152547.5	NP_689760.2:p.(Leu433Pro)	NC_000005.9:g.180486552T>C	VUS	1 lab	ddfc44d7d0
19:33167566 RGS9BP A>C	19	33167566	33167566	A	C	RGS9BP	c.397A>C	NM_207391.2	NP_997274.2:p.(Ser133Arg)	NC_000019.9:g.33167566A>C	(Likely) benign	1 lab	ddfc8f015e
16:2143621 PKD1 C>T	16	2143621	2143621	C	T	PKD1	c.10940G>A	NM_001009944.2	NP_001009944.2:p.(Arg3647Gln)	NC_000016.9:g.2143621C>T	VUS	1 lab	ddfd7c8ec1
2:136575505 LCT C>T	2	136575505	136575505	C	T	LCT	c.1113G>A	NM_002299.2	NP_002290.2:p.(Arg371=)	NC_000002.11:g.136575505C>T	(Likely) benign	1 lab	ddfdd50ba4
8:10470816 RP1L1 C>T	8	10470816	10470816	C	T	RP1L1	c.792G>A	NM_178857.5	NP_849188.4:p.(Ser264=)	NC_000008.10:g.10470816C>T	(Likely) benign	1 lab	ddfdf0ab29
X:153421950 OPN1LW A>T	X	153421950	153421950	A	T	OPN1LW	c.926A>T	NM_020061.5	NP_064445.2:p.(Tyr309Phe)	NC_000023.10:g.153421950A>T	(Likely) benign	1 lab	de01d235a8
19:6718430 C3 G>A	19	6718430	6718430	G	A	C3	c.268-7C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6718430G>A	(Likely) benign	1 lab	de03416c09
6:2949209 SERPINB6 T>G	6	2949209	2949209	T	G	SERPINB6	c.668A>C	NM_001297699.1	NP_001284628.1:p.(Tyr223Ser)	NC_000006.11:g.2949209T>G	VUS	1 lab	de0436a5db
3:190127737 CLDN16 A>G	3	190127737	190127737	A	G	CLDN16	c.830A>G	NM_006580.3	NP_006571.1:p.(Tyr277Cys)	NC_000003.11:g.190127737A>G	(Likely) benign	1 lab	de060f13de
5:90079836 ADGRV1 G>C	5	90079836	90079836	G	C	ADGRV1	c.13615G>C	NM_032119.4	NP_115495.3:p.(Val4539Leu)	NC_000005.9:g.90079836G>C	(Likely) benign	1 lab	de0a0fca1a
6:170871004 TBP G>A	6	170871004	170871004	G	A	TBP	c.180G>A	NM_003194.4	NP_003185.1:p.(Gln60=)	NC_000006.11:g.170871004G>A	(Likely) benign	1 lab	de0abe1022
20:49576174 MOCS3 G>C	20	49576174	49576174	G	C	MOCS3	c.795G>C	NM_014484.4	NP_055299.1:p.(Ala265=)	NC_000020.10:g.49576174G>C	(Likely) benign	1 lab	de0ae53e92
8:145640348 SLC39A4 C>T	8	145640348	145640348	C	T	SLC39A4	c.729+10G>A	NM_017767.2	NP_060237.2:p.?	NC_000008.10:g.145640348C>T	(Likely) benign	1 lab	de0b4e18c8
5:89939662 ADGRV1 C>T	5	89939662	89939662	C	T	ADGRV1	c.2596C>T	NM_032119.4	NP_115495.3:p.(Arg866Trp)	NC_000005.9:g.89939662C>T	(Likely) benign	1 lab	de0d0da510
19:12817558 TNPO2 ATCAGGTGCGGGATCAGCT>A	19	12817558	12817576	ATCAGGTGCGGGATCAGCT	A	TNPO2	c.1304_1321del	NM_001382241.1	NP_001369170.1:p.(Glu435_Ile441delinsVal)	NC_000019.9:g.12817559_12817576del	VUS	1 lab	de0d4b1a36
16:14693754 PARN CA>C	16	14693754	14693755	CA	C	PARN	c.840+6del	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14693755del	(Likely) benign	1 lab	de0da79883
18:43460097 EPG5 C>T	18	43460097	43460097	C	T	EPG5	c.5610G>A	NM_020964.3	NP_066015.2:p.(Ala1870=)	NC_000018.9:g.43460097C>T	(Likely) benign	1 lab	de0df281f9
13:32910980 BRCA2 A>G	13	32910980	32910980	A	G	BRCA2	c.2488A>G	NM_000059.3	NP_000050.2:p.(Asn830Asp)	NC_000013.10:g.32910980A>G	(Likely) benign	1 lab	de0df6131d
16:2138267 TSC2 G>T	16	2138267	2138267	G	T	TSC2	c.5200G>T	NM_000548.3	NP_000539.2:p.(Asp1734Tyr)	NC_000016.9:g.2138267G>T	VUS	1 lab	de0e1f58d1
5:178413561 GRM6 G>A	5	178413561	178413561	G	A	GRM6	c.1694C>T	NM_000843.4	NP_000834.2:p.(Thr565Met)	NC_000005.9:g.178413561G>A	VUS	1 lab	de0e33905e
X:118723491 NKRF G>A	X	118723491	118723491	G	A	NKRF	c.1897C>T	NM_001173488.1	NP_001166959.1:p.(Arg633Trp)	NC_000023.10:g.118723491G>A	VUS	1 lab	de0ef07a20
17:42476495 GPATCH8 G>A	17	42476495	42476495	G	A	GPATCH8	c.2716C>T	NM_001304940.1	NP_001291869.1:p.(Arg906Trp)	NC_000017.10:g.42476495G>A	VUS	1 lab	de0f920dea
8:126088722 WASHC5 C>T	8	126088722	126088722	C	T	WASHC5	c.732G>A	NM_014846.3	NP_055661.3:p.(Pro244=)	NC_000008.10:g.126088722C>T	VUS	1 lab	de0fd2a6ce
3:128603497 ACAD9 A>T	3	128603497	128603497	A	T	ACAD9	c.152A>T	NM_014049.4	NP_054768.2:p.(Lys51Ile)	NC_000003.11:g.128603497A>T	VUS	1 lab	de1019a33f
16:726381 RHBDL1 A>G	16	726381	726381	A	G	RHBDL1	c.85A>G	NM_001278720.1	NP_001265649.1:p.(Thr29Ala)	NC_000016.9:g.726381A>G	(Likely) benign	1 lab	de1338a48f
13:110807658 COL4A1 G>C	13	110807658	110807658	G	C	COL4A1	c.4727C>G	NM_001845.5	NP_001836.3:p.(Ser1576Trp)	NC_000013.10:g.110807658G>C	VUS	1 lab	de13bb2c33
X:18807263 PPEF1 A>G	X	18807263	18807263	A	G	PPEF1	c.937A>G	NM_006240.2	NP_006231.2:p.(Thr313Ala)	NC_000023.10:g.18807263A>G	(Likely) benign	1 lab	de13f41050
8:100832301 VPS13B T>C	8	100832301	100832301	T	C	VPS13B	c.9020T>C	NM_017890.4	NP_060360.3:p.(Ile3007Thr)	NC_000008.10:g.100832301T>C	VUS	1 lab	de14dc0099
1:231411934 GNPAT A>G	1	231411934	231411934	A	G	GNPAT	c.1991A>G	NM_014236.3	NP_055051.1:p.(Glu664Gly)	NC_000001.10:g.231411934A>G	VUS	1 lab	de16c4733c
14:77917676 VIPAS39 C>A	14	77917676	77917676	C	A	VIPAS39	c.197G>T	NM_001193314.1	NP_001180243.1:p.(Ser66Ile)	NC_000014.8:g.77917676C>A	VUS	1 lab	de1851ea71
19:7621564 PNPLA6 C>T	19	7621564	7621564	C	T	PNPLA6	c.3264C>T	NM_001166111.1	NP_001159583.1:p.(Asn1088=)	NC_000019.9:g.7621564C>T	(Likely) benign	1 lab	de1bc7c27a
5:14482765 TRIO G>C	5	14482765	14482765	G	C	TRIO	c.6540G>C	NM_007118.3	NP_009049.2:p.(Leu2180=)	NC_000005.9:g.14482765G>C	(Likely) benign	1 lab	de1c294347
3:15515762 COLQ C>G	3	15515762	15515762	C	G	COLQ	c.543G>C	NM_080538.2	NP_536799.1:p.(Lys181Asn)	NC_000003.11:g.15515762C>G	VUS	1 lab	de203cd43e
17:18040009 MYO15A G>A	17	18040009	18040009	G	A	MYO15A	c.4779+9G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18040009G>A	(Likely) benign	1 lab	de20a8f084
13:39266506 FREM2 G>A	13	39266506	39266506	G	A	FREM2	c.5025G>A	NM_207361.5	NP_997244.4:p.(Leu1675=)	NC_000013.10:g.39266506G>A	(Likely) benign	1 lab	de20dcf77a
9:123220848 CDK5RAP2 G>A	9	123220848	123220848	G	A	CDK5RAP2	c.2255C>T	NM_018249.5	NP_060719.4:p.(Thr752Met)	NC_000009.11:g.123220848G>A	VUS	1 lab	de22abdd2a
X:106046146 TBC1D8B G>T	X	106046146	106046146	G	T	TBC1D8B	c.63G>T	NM_017752.2	NP_060222.2:p.(Arg21Ser)	NC_000023.10:g.106046146G>T	(Likely) benign	1 lab	de233f790f
13:25480663 CPAP C>T	13	25480663	25480663	C	T	CPAP	c.1513G>A	NM_018451.4	NP_060921.3:p.(Glu505Lys)	NC_000013.10:g.25480663C>T	(Likely) benign	1 lab	de26c91d89
16:50815192 CYLD C>CAG	16	50815192	50815196	C	CAG	CYLD	c.1557_1558dup	NM_015247.2	NP_056062.1:p.(Gly520GlufsTer10)	NC_000016.9:g.50815195_50815196dup	(Likely) pathogenic	1 lab	de29a03a98
X:131219995 FRMD7 G>T	X	131219995	131219995	G	T	FRMD7	c.450C>A	NM_194277.2	NP_919253.1:p.(Asn150Lys)	NC_000023.10:g.131219995G>T	VUS	1 lab	de2a32ee61
1:19511613 UBR4 T>G	1	19511613	19511613	T	G	UBR4	c.1918A>C	NM_020765.2	NP_065816.2:p.(Ser640Arg)	NC_000001.10:g.19511613T>G	VUS	1 lab	de2b7fe7da
16:67866021 CENPT C>T	16	67866021	67866021	C	T	CENPT	c.290-10G>A	NM_025082.4	NP_079358.3:p.?	NC_000016.9:g.67866021C>T	VUS	1 lab	de2c70ebbb
12:58159128 CYP27B1 C>A	12	58159128	58159128	C	A	CYP27B1	c.541G>T	NM_000785.3	NP_000776.1:p.(Ala181Ser)	NC_000012.11:g.58159128C>A	(Likely) benign	1 lab	de2dcf30d8
2:169847357 ABCB11 T>C	2	169847357	169847357	T	C	ABCB11	c.862A>G	NM_003742.4	NP_003733.2:p.(Met288Val)	NC_000002.11:g.169847357T>C	(Likely) benign	1 lab	de2de49289
19:46269323 SIX5 C>T	19	46269323	46269323	C	T	SIX5	c.1656G>A	NM_175875.4	NP_787071.2:p.(Thr552=)	NC_000019.9:g.46269323C>T	(Likely) benign	1 lab	de30388076
14:105407985 AHNAK2 TG>T	14	105407985	105407989	TG	T	AHNAK2	c.13802del	NM_138420.4	NP_612429.2:p.(Pro4601GlnfsTer21)	NC_000014.8:g.105407989del	VUS	1 lab	de31457922
17:1634247 WDR81 G>A	17	1634247	1634247	G	A	WDR81	c.3966+8G>A	NM_001163809.1	NP_001157281.1:p.?	NC_000017.10:g.1634247G>A	(Likely) benign	1 lab	de33b091f0
17:4925846 KIF1C G>A	17	4925846	4925846	G	A	KIF1C	c.2470G>A	NM_006612.5	NP_006603.2:p.(Gly824Arg)	NC_000017.10:g.4925846G>A	VUS	1 lab	de33c680fe
11:1256409 MUC5B G>A	11	1256409	1256409	G	A	MUC5B	c.2725G>A	NM_002458.2	NP_002449.2:p.(Asp909Asn)	NC_000011.9:g.1256409G>A	(Likely) benign	1 lab	de346b8dac
X:103432759 FAM199X G>A	X	103432759	103432759	G	A	FAM199X	c.768G>A	NM_207318.4	NP_997201.1:p.(Arg256=)	NC_000023.10:g.103432759G>A	(Likely) benign	1 lab	de3517141b
6:107533477 PDSS2 T>C	6	107533477	107533477	T	C	PDSS2	c.712A>G	NM_020381.3	NP_065114.3:p.(Ile238Val)	NC_000006.11:g.107533477T>C	(Likely) benign	1 lab	de3636a13c
17:40688571 NAGLU G>C	17	40688571	40688571	G	C	NAGLU	c.281G>C	NM_000263.3	NP_000254.2:p.(Arg94Pro)	NC_000017.10:g.40688571G>C	VUS	1 lab	de36d7493e
6:30672200 MDC1 A>G	6	30672200	30672200	A	G	MDC1	c.4760T>C	NM_014641.3	NP_055456.2:p.(Leu1587Pro)	NC_000006.11:g.30672200A>G	(Likely) benign	1 lab	de36f34109
16:2161865 PKD1 G>A	16	2161865	2161865	G	A	PKD1	c.3303C>T	NM_001009944.2	NP_001009944.2:p.(Tyr1101=)	NC_000016.9:g.2161865G>A	(Likely) benign	1 lab	de372926fb
1:186024741 HMCN1 G>A	1	186024741	186024741	G	A	HMCN1	c.7079G>A	NM_031935.2	NP_114141.2:p.(Arg2360His)	NC_000001.10:g.186024741G>A	VUS	1 lab	de391eea84
15:34819960 GOLGA8B T>C	15	34819960	34819960	T	C	GOLGA8B	c.1685A>G	NM_001023567.4	NP_001018861.3:p.(Asn562Ser)	NC_000015.9:g.34819960T>C	(Likely) benign	1 lab	de39c61c68
19:4552619 SEMA6B C>T	19	4552619	4552619	C	T	SEMA6B	c.804G>A	NM_032108.4	NP_115484.2:p.(Lys268=)	NC_000019.9:g.4552619C>T	(Likely) benign	1 lab	de3becac37
1:12461760 VPS13D A>G	1	12461760	12461760	A	G	VPS13D	c.11881+3A>G	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12461760A>G	VUS	1 lab	de3c6b2e33
19:55652552 TNNT1 A>C	19	55652552	55652552	A	C	TNNT1	c.276+2T>G	NM_001291774.1	NP_001278703.1:p.?	NC_000019.9:g.55652552A>C	(Likely) pathogenic	1 lab	de3cf861c2
X:148579673 IDS A>C	X	148579673	148579673	A	C	IDS	c.673T>G	NM_000202.7	NP_000193.1:p.(Tyr225Asp)	NC_000023.10:g.148579673A>C	(Likely) pathogenic	1 lab	de3ec2790a
10:126395252 FAM53B T>G	10	126395252	126395252	T	G	FAM53B	c.31A>C	NM_014661.4	NP_055476.3:p.(Thr11Pro)	NC_000010.10:g.126395252T>G	VUS	1 lab	de3fd9251e
6:24806682 RIPOR2 T>G	6	24806682	24806682	T	G	RIPOR2	c.3126A>C	NM_014722.4	NP_055537.2:p.(Ala1042=)	NC_000006.11:g.24806682T>G	(Likely) benign	1 lab	de40529b39
19:36497439 SYNE4 C>T	19	36497439	36497439	C	T	SYNE4	c.753G>A	NM_001039876.2	NP_001034965.1:p.(Pro251=)	NC_000019.9:g.36497439C>T	(Likely) benign	1 lab	de4225b6fe
1:168274279 TBX19 T>C	1	168274279	168274279	T	C	TBX19	c.761T>C	NM_005149.2	NP_005140.1:p.(Val254Ala)	NC_000001.10:g.168274279T>C	(Likely) benign	1 lab	de433ee15a
6:7570798 DSP T>C	6	7570798	7570798	T	C	DSP	c.1701+2T>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7570798T>C	(Likely) pathogenic	1 lab	de44749f5c
4:149357301 NR3C2 A>G	4	149357301	149357301	A	G	NR3C2	c.712T>C	NM_000901.4	NP_000892.2:p.(Ser238Pro)	NC_000004.11:g.149357301A>G	VUS	1 lab	de45c89a1b
12:49579107 TUBA1A G>A	12	49579107	49579107	G	A	TUBA1A	c.1042C>T	NM_006009.3	NP_006000.2:p.(Pro348Ser)	NC_000012.11:g.49579107G>A	VUS	1 lab	de46d413a2
X:19387194 MAP3K15 C>T	X	19387194	19387194	C	T	MAP3K15	c.3544G>A	NM_001001671.3	NP_001001671.3:p.(Glu1182Lys)	NC_000023.10:g.19387194C>T	(Likely) benign	1 lab	de46e9e7c4
X:132458384 GPC4 C>T	X	132458384	132458384	C	T	GPC4	c.500G>A	NM_001448.2	NP_001439.2:p.(Arg167His)	NC_000023.10:g.132458384C>T	(Likely) benign	1 lab	de48b19f3f
15:28502410 HERC2 A>G	15	28502410	28502410	A	G	HERC2	c.2317-3T>C	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28502410A>G	(Likely) benign	1 lab	de493c4992
6:152686022 SYNE1 T>C	6	152686022	152686022	T	C	SYNE1	c.10105A>G	NM_182961.3	NP_892006.3:p.(Met3369Val)	NC_000006.11:g.152686022T>C	(Likely) benign	1 lab	de4ee84b43
4:169799138 PALLD C>A	4	169799138	169799138	C	A	PALLD	c.96C>A	NM_001166110.1	NP_001159582.1:p.(Leu32=)	NC_000004.11:g.169799138C>A	(Likely) benign	1 lab	de4f48ba9f
X:99663402 PCDH19 G>A	X	99663402	99663402	G	A	PCDH19	c.194C>T	NM_001184880.1	NP_001171809.1:p.(Ser65Phe)	NC_000023.10:g.99663402G>A	VUS	1 lab	de4f672a2f
18:43440223 EPG5 T>A	18	43440223	43440223	T	A	EPG5	c.6855A>T	NM_020964.3	NP_066015.2:p.(Ala2285=)	NC_000018.9:g.43440223T>A	(Likely) benign	1 lab	de4fa2bba8
16:2114307 TSC2 T>C	16	2114307	2114307	T	C	TSC2	c.1478T>C	NM_000548.3	NP_000539.2:p.(Leu493Pro)	NC_000016.9:g.2114307T>C	(Likely) pathogenic	1 lab	de52b43110
2:179497362 TTN C>T	2	179497362	179497362	C	T	TTN	c.43371G>A	NM_001267550.1	NP_001254479.1:p.(Lys14457=)	NC_000002.11:g.179497362C>T	(Likely) benign	1 lab	de530fce57
9:139265142 CARD9 G>C	9	139265142	139265142	G	C	CARD9	c.639C>G	NM_052813.4	NP_434700.2:p.(Leu213=)	NC_000009.11:g.139265142G>C	VUS	1 lab	de53ef6bc1
17:79096206 AATK G>A	17	79096206	79096206	G	A	AATK	c.1530C>T	NM_001080395.2	NP_001073864.2:p.(Gly510=)	NC_000017.10:g.79096206G>A	(Likely) benign	1 lab	de541c97a2
X:135405343 ADGRG4 C>G	X	135405343	135405343	C	G	ADGRG4	c.477C>G	NM_153834.3	NP_722576.3:p.(Phe159Leu)	NC_000023.10:g.135405343C>G	(Likely) benign	1 lab	de542c56d2
3:138664657 FOXL2 G>C	3	138664657	138664657	G	C	FOXL2	c.908C>G	NM_023067.4	NP_075555.1:p.(Ala303Gly)	NC_000003.11:g.138664657G>C	(Likely) benign	1 lab	de55a28e6b
2:239242652 TRAF3IP1 C>T	2	239242652	239242652	C	T	TRAF3IP1	c.1039C>T	NM_015650.3	NP_056465.2:p.(Arg347Trp)	NC_000002.11:g.239242652C>T	VUS	1 lab	de59b576f1
14:24572923 PCK2 T>C	14	24572923	24572923	T	C	PCK2	c.1271T>C	NM_001308054.1	NP_001294983.1:p.(Ile424Thr)	NC_000014.8:g.24572923T>C	VUS	1 lab	de5b7e0c61
6:33632835 ITPR3 C>T	6	33632835	33632835	C	T	ITPR3	c.1254C>T	NM_002224.3	NP_002215.2:p.(Gly418=)	NC_000006.11:g.33632835C>T	(Likely) benign	1 lab	de5c10b97d
2:233704576 GIGYF2 G>C	2	233704576	233704576	G	C	GIGYF2	c.2784G>C	NM_015575.3	NP_056390.2:p.(Thr928=)	NC_000002.11:g.233704576G>C	(Likely) benign	1 lab	de5d5fb126
14:65258483 SPTB G>T	14	65258483	65258483	G	T	SPTB	c.2758C>A	NM_001024858.3	NP_001020029.1:p.(Pro920Thr)	NC_000014.8:g.65258483G>T	VUS	1 lab	de5db336cf
X:44089005 EFHC2 T>C	X	44089005	44089005	T	C	EFHC2	c.1641A>G	NM_025184.3	NP_079460.2:p.(Lys547=)	NC_000023.10:g.44089005T>C	(Likely) benign	1 lab	de5f7e6d3e
5:149324149 PDE6A C>T	5	149324149	149324149	C	T	PDE6A	c.88G>A	NM_000440.2	NP_000431.2:p.(Ala30Thr)	NC_000005.9:g.149324149C>T	VUS	1 lab	de6655ab31
12:122242673 SETD1B C>A	12	122242673	122242673	C	A	SETD1B	c.30C>A	NM_001353345.1	NP_001340274.1:p.(His10Gln)	NC_000012.11:g.122242673C>A	(Likely) benign	1 lab	de6731e0ab
2:74688527 MOGS G>A	2	74688527	74688527	G	A	MOGS	c.2389C>T	NM_006302.3	NP_006293.2:p.(Arg797Cys)	NC_000002.11:g.74688527G>A	VUS	1 lab	de6751e1f5
1:120510371 NOTCH2 TA>T	1	120510371	120510372	TA	T	NOTCH2	c.1265-128del	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120510372del	(Likely) benign	1 lab	de6ebe1e3b
3:132413671 NPHP3 C>T	3	132413671	132413671	C	T	NPHP3	c.2310G>A	NM_153240.4	NP_694972.3:p.(Gln770=)	NC_000003.11:g.132413671C>T	VUS	1 lab	de712d2f65
17:45369775 ITGB3 G>A	17	45369775	45369775	G	A	ITGB3	c.1531G>A	NM_000212.2	NP_000203.2:p.(Glu511Lys)	NC_000017.10:g.45369775G>A	(Likely) benign	1 lab	de729a172c
14:50088663 MGAT2 A>C	14	50088663	50088663	A	C	MGAT2	c.677A>C	NM_002408.3	NP_002399.1:p.(Lys226Thr)	NC_000014.8:g.50088663A>C	VUS	1 lab	de8ab1fe65
14:102505420 DYNC1H1 C>T	14	102505420	102505420	C	T	DYNC1H1	c.11289C>T	NM_001376.4	NP_001367.2:p.(Asp3763=)	NC_000014.8:g.102505420C>T	(Likely) benign	1 lab	de764ac8ba
3:36534691 STAC G>A	3	36534691	36534691	G	A	STAC	c.736G>A	NM_003149.2	NP_003140.1:p.(Gly246Arg)	NC_000003.11:g.36534691G>A	(Likely) benign	1 lab	de783e682d
5:60194228 ERCC8 C>T	5	60194228	60194228	C	T	ERCC8	c.719-1G>A	NM_000082.3	NP_000073.1:p.?	NC_000005.9:g.60194228C>T	(Likely) pathogenic	1 lab	de7a782e67
6:152457845 SYNE1 G>A	6	152457845	152457845	G	A	SYNE1	c.25567C>T	NM_182961.3	NP_892006.3:p.(Arg8523Cys)	NC_000006.11:g.152457845G>A	VUS	1 lab	de7beeb042
17:48694921 CACNA1G G>A	17	48694921	48694921	G	A	CACNA1G	c.5144G>A	NM_018896.4	NP_061496.2:p.(Arg1715His)	NC_000017.10:g.48694921G>A	VUS	1 lab	de7d712d73
1:225546258 DNAH14 A>G	1	225546258	225546258	A	G	DNAH14	c.11680A>G	NM_001367479.1	NP_001354408.1:p.(Met3894Val)	NC_000001.10:g.225546258A>G	VUS	1 lab	de8074b56f
X:24331122 SUPT20HL2 C>T	X	24331122	24331122	C	T	SUPT20HL2	c.389G>A	NM_001136233.2	NP_001129705.2:p.(Arg130Gln)	NC_000023.10:g.24331122C>T	VUS	1 lab	de827ee20f
14:95566108 DICER1 C>CAA	14	95566108	95566111	C	CAA	DICER1	c.4206+7_4206+8dup	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95566110_95566111dup	(Likely) benign	1 lab	de829aba71
5:89783821 POLR3G C>T	5	89783821	89783821	C	T	POLR3G	c.122C>T	NM_006467.3	NP_006458.2:p.(Thr41Ile)	NC_000005.9:g.89783821C>T	VUS	1 lab	de86435dcd
1:36775182 SH3D21 C>T	1	36775182	36775182	C	T	SH3D21	c.760C>T	NM_001162530.2	NP_001156002.1:p.(Arg254Trp)	NC_000001.10:g.36775182C>T	VUS	1 lab	de888b0352
16:75512656 CHST6 G>T	16	75512656	75512656	G	T	CHST6	c.1071C>A	NM_021615.5	NP_067628.1:p.(Gly357=)	NC_000016.9:g.75512656G>T	(Likely) benign	1 lab	de8a9b6736
19:34983974 WTIP G>A	19	34983974	34983974	G	A	WTIP	c.802G>A	NM_001080436.1	NP_001073905.1:p.(Val268Met)	NC_000019.9:g.34983974G>A	VUS	1 lab	de8b049695
X:53423392 SMC1A T>C	X	53423392	53423392	T	C	SMC1A	c.2642A>G	NM_001281463.1	NP_001268392.1:p.(Lys881Arg)	NC_000023.10:g.53423392T>C	(Likely) benign	1 lab	de8f656981
X:48887768 TFE3 T>C	X	48887768	48887768	T	C	TFE3	c.1629A>G	NM_006521.5	NP_006512.2:p.(Pro543=)	NC_000023.10:g.48887768T>C	(Likely) benign	1 lab	de8f86c238
11:121348842 SORL1 G>A	11	121348842	121348842	G	A	SORL1	c.418G>A	NM_003105.5	NP_003096.1:p.(Asp140Asn)	NC_000011.9:g.121348842G>A	VUS	1 lab	de90b0a602
1:45480167 UROD GT>G	1	45480167	45480170	GT	G	UROD	c.696del	NM_000374.5	NP_000365.3:p.(Phe232LeufsTer13)	NC_000001.10:g.45480170del	(Likely) pathogenic	1 lab	de919a37ec
X:139586515 SOX3 G>T	X	139586515	139586515	G	T	SOX3	c.711C>A	NM_005634.2	NP_005625.2:p.(Ala237=)	NC_000023.10:g.139586515G>T	(Likely) benign	1 lab	de93762a63
7:5764980 RNF216 A>C	7	5764980	5764980	A	C	RNF216	c.1479T>G	NM_207111.3	NP_996994.1:p.(Ser493=)	NC_000007.13:g.5764980A>C	(Likely) benign	1 lab	de9405b0b0
2:233387807 PRSS56 T>C	2	233387807	233387807	T	C	PRSS56	c.744T>C	NM_001195129.1	NP_001182058.1:p.(Val248=)	NC_000002.11:g.233387807T>C	(Likely) benign	1 lab	de95fdd49f
2:113888635 IL1RN G>A	2	113888635	113888635	G	A	IL1RN	c.117G>A	NM_001318914.1	NP_001305843.1:p.(Val39=)	NC_000002.11:g.113888635G>A	(Likely) benign	1 lab	de968ea066
6:65301100 EYS G>C	6	65301100	65301100	G	C	EYS	c.4660C>G	NM_001292009.1	NP_001278938.1:p.(Gln1554Glu)	NC_000006.11:g.65301100G>C	(Likely) benign	1 lab	de9958a3fd
22:50502590 MLC1 A>T	22	50502590	50502590	A	T	MLC1	c.932T>A	NM_015166.3	NP_055981.1:p.(Val311Glu)	NC_000022.10:g.50502590A>T	(Likely) benign	1 lab	de9a227541
5:150885263 FAT2 C>T	5	150885263	150885263	C	T	FAT2	c.12913G>A	NM_001447.2	NP_001438.1:p.(Ala4305Thr)	NC_000005.9:g.150885263C>T	(Likely) benign	1 lab	de9c21c2ab
19:10472198 TYK2 C>G	19	10472198	10472198	C	G	TYK2	c.2036G>C	NM_003331.4	NP_003322.3:p.(Arg679Pro)	NC_000019.9:g.10472198C>G	(Likely) benign	1 lab	de9d4dc3f2
15:91328184 BLM G>A	15	91328184	91328184	G	A	BLM	c.1571G>A	NM_001287248.1	NP_001274177.1:p.(Arg524Gln)	NC_000015.9:g.91328184G>A	(Likely) benign	1 lab	de9dfd3f5f
X:130419294 IGSF1 C>G	X	130419294	130419294	C	G	IGSF1	c.526G>C	NM_001170961.1	NP_001164432.1:p.(Val176Leu)	NC_000023.10:g.130419294C>G	(Likely) benign	1 lab	dea0802e62
X:53588757 HUWE1 A>C	X	53588757	53588757	A	C	HUWE1	c.7467T>G	NM_031407.6	NP_113584.3:p.(Asp2489Glu)	NC_000023.10:g.53588757A>C	VUS	1 lab	dea1a32348
1:120277370 PHGDH T>C	1	120277370	120277370	T	C	PHGDH	c.624T>C	NM_006623.3	NP_006614.2:p.(Pro208=)	NC_000001.10:g.120277370T>C	(Likely) benign	1 lab	dea3a68f04
2:179457287 TTN G>A	2	179457287	179457287	G	A	TTN	c.59445C>T	NM_001267550.1	NP_001254479.1:p.(Phe19815=)	NC_000002.11:g.179457287G>A	(Likely) benign	1 lab	dea43a3a31
7:45697426 ADCY1 G>A	7	45697426	45697426	G	A	ADCY1	c.1249G>A	NM_021116.3	NP_066939.1:p.(Asp417Asn)	NC_000007.13:g.45697426G>A	VUS	1 lab	dea53d9cf3
1:162368801 SH2D1B C>G	1	162368801	162368801	C	G	SH2D1B	c.275G>C	NM_053282.5	NP_444512.2:p.(Gly92Ala)	NC_000001.10:g.162368801C>G	VUS	1 lab	dea61e4059
2:179517579 TTN A>C	2	179517579	179517579	A	C	TTN	c.38955T>G	NM_001267550.1	NP_001254479.1:p.(Val12985=)	NC_000002.11:g.179517579A>C	(Likely) benign	1 lab	dea62f5426
8:133882007 TG CT>C	8	133882007	133882008	CT	C	TG	c.211del	NM_003235.5	NP_003226.4:p.(Trp71GlyfsTer35)	NC_000008.10:g.133882008del	(Likely) pathogenic	1 lab	dea89be125
2:234247316 SAG G>A	2	234247316	234247316	G	A	SAG	c.945-6G>A	NM_000541.4	NP_000532.2:p.?	NC_000002.11:g.234247316G>A	(Likely) benign	1 lab	dea8f13fac
X:41469208 CASK T>C	X	41469208	41469208	T	C	CASK	c.1104A>G	NM_003688.3	NP_003679.2:p.(Leu368=)	NC_000023.10:g.41469208T>C	(Likely) benign	1 lab	dec70cc7d0
5:79950706 DHFR GCTGCAGCGGC>G	5	79950706	79950717	GCTGCAGCGGC	G	DHFR	c.-408_-399del	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950708_79950717del	(Likely) benign	1 lab	deaa04305e
19:53321202 MISSING G>A	19	53321202	53321202	G	A	MISSING				NC_000019.9:g.53321202G>A	(Likely) benign	1 lab	deaad8388a
12:106830919 POLR3B C>T	12	106830919	106830919	C	T	POLR3B	c.1856+10C>T	NM_018082.5	NP_060552.4:p.?	NC_000012.11:g.106830919C>T	(Likely) benign	1 lab	deabcb43fa
22:33253320 TIMP3 G>A	22	33253320	33253320	G	A	TIMP3	c.289G>A	NM_000362.4	NP_000353.1:p.(Val97Ile)	NC_000022.10:g.33253320G>A	(Likely) benign	1 lab	dead10703d
10:21309059 NEBL T>C	10	21309059	21309059	T	C	NEBL	c.236A>G	NM_213569.2	NP_998734.1:p.(Glu79Gly)	NC_000010.10:g.21309059T>C	VUS	1 lab	deae872304
4:5633688 EVC2 G>A	4	5633688	5633688	G	A	EVC2	c.1302C>T	NM_001166136.1	NP_001159608.1:p.(Leu434=)	NC_000004.11:g.5633688G>A	(Likely) benign	1 lab	deae89647c
10:100179923 HPS1 A>G	10	100179923	100179923	A	G	HPS1	c.772-8T>C	NM_001322487.1	NP_001309416.1:p.?	NC_000010.10:g.100179923A>G	(Likely) benign	1 lab	deaf89fb3f
1:11828327 C1orf167 C>T	1	11828327	11828327	C	T	C1orf167	c.1537C>T	NM_001010881.1	NP_001010881.1:p.(Arg513Ter)	NC_000001.10:g.11828327C>T	VUS	1 lab	deb061ffe5
4:103500059 NFKB1 G>A	4	103500059	103500059	G	A	NFKB1	c.590G>A	NM_001165412.1	NP_001158884.1:p.(Arg197His)	NC_000004.11:g.103500059G>A	(Likely) benign	1 lab	deb0f0edd0
X:153296764 MECP2 G>A	X	153296764	153296764	G	A	MECP2	c.515C>T	NM_004992.3	NP_004983.1:p.(Pro172Leu)	NC_000023.10:g.153296764G>A	VUS	1 lab	deb1c283c1
6:56484722 DST T>C	6	56484722	56484722	T	C	DST	c.4110A>G	NM_001723.5	NP_001714.1:p.(Glu1370=)	NC_000006.11:g.56484722T>C	(Likely) benign	1 lab	deb66d99ca
8:145694209 KIFC2 C>T	8	145694209	145694209	C	T	KIFC2	c.1105C>T	NM_145754.3	NP_665697.1:p.(Arg369Trp)	NC_000008.10:g.145694209C>T	VUS	1 lab	deb7de9524
13:32893435 BRCA2 G>T	13	32893435	32893435	G	T	BRCA2	c.289G>T	NM_000059.3	NP_000050.2:p.(Glu97Ter)	NC_000013.10:g.32893435G>T	(Likely) pathogenic	1 lab	deb908f31a
X:101096484 NXF5 T>C	X	101096484	101096484	T	C	NXF5	n.647A>G	NR_028089.1		NC_000023.10:g.101096484T>C	(Likely) benign	1 lab	8ff3af5b4f
22:28194453 MN1 G>A	22	28194453	28194453	G	A	MN1	c.2079C>T	NM_002430.2	NP_002421.3:p.(Pro693=)	NC_000022.10:g.28194453G>A	(Likely) benign	1 lab	deb9709dc5
X:154158829 F8 C>T	X	154158829	154158829	C	T	F8	c.3236G>A	NM_000132.3	NP_000123.1:p.(Arg1079Lys)	NC_000023.10:g.154158829C>T	(Likely) benign	1 lab	debd18a5e1
1:120458491 NOTCH2 T>C	1	120458491	120458491	T	C	NOTCH2	c.6854A>G	NM_024408.3	NP_077719.2:p.(Gln2285Arg)	NC_000001.10:g.120458491T>C	VUS	1 lab	debd4971be
11:126133895 SRPRA G>A	11	126133895	126133895	G	A	SRPRA	c.1749C>T	NM_001177842.1	NP_001171313.1:p.(Ile583=)	NC_000011.9:g.126133895G>A	(Likely) benign	1 lab	debf114474
X:153585839 FLNA G>A	X	153585839	153585839	G	A	FLNA	c.4908C>T	NM_001110556.2	NP_001104026.1:p.(Ala1636=)	NC_000023.10:g.153585839G>A	(Likely) benign	1 lab	dec07e9e4b
6:118879789 PLN T>TAC	6	118879789	118879824	T	TAC	PLN	c.-97-165_-97-164dup	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118879823_118879824dup	(Likely) benign	1 lab	dec09a9f90
16:67132611 CBFB A>C	16	67132611	67132611	A	C	CBFB	c.527-2A>C	NM_001755.3	NP_001746.1:p.?	NC_000016.9:g.67132611A>C	VUS	1 lab	dec15b769c
5:127680130 FBN2 T>G	5	127680130	127680130	T	G	FBN2	c.3290A>C	NM_001999.3	NP_001990.2:p.(Lys1097Thr)	NC_000005.9:g.127680130T>G	VUS	1 lab	dec16088f8
16:88498094 ZNF469 G>T	16	88498094	88498094	G	T	ZNF469				NC_000016.9:g.88498094G>T	VUS	1 lab	dec207b43e
18:34298375 FHOD3 G>C	18	34298375	34298375	G	C	FHOD3	c.3114G>C	NM_001281740.2	NP_001268669.1:p.(Pro1038=)	NC_000018.9:g.34298375G>C	(Likely) benign	1 lab	dec368ffaf
21:44485303 CBS A>G	21	44485303	44485303	A	G	CBS	c.421+10T>C	NM_001321072.1	NP_001308001.1:p.?	NC_000021.8:g.44485303A>G	(Likely) benign	1 lab	dec3b33d61
17:29677208 NF1 T>TA	17	29677208	29677209	T	TA	NF1	c.7267dup	NM_000267.3	NP_000258.1:p.(Thr2423AsnfsTer4)	NC_000017.10:g.29677209dup	(Likely) pathogenic	1 lab	dec3f17801
X:153247527 TMEM187 G>C	X	153247527	153247527	G	C	TMEM187	c.14G>C	NM_003492.2	NP_003483.1:p.(Trp5Ser)	NC_000023.10:g.153247527G>C	(Likely) benign	1 lab	decac30fb2
1:157745571 FCRL2 G>A	1	157745571	157745571	G	A	FCRL2	c.46C>T	NM_030764.4	NP_110391.2:p.(Gln16Ter)	NC_000001.10:g.157745571G>A	VUS	1 lab	decaf25e8c
X:70469459 ZMYM3 C>T	X	70469459	70469459	C	T	ZMYM3	c.1322G>A	NM_001171162.1	NP_001164633.1:p.(Arg441Gln)	NC_000023.10:g.70469459C>T	VUS	1 lab	decb7fc20d
17:29528122 NF1 T>TTG	17	29528122	29528124	T	TTG	NF1	c.1131_1132dup	NM_000267.3	NP_000258.1:p.(Asp378ValfsTer10)	NC_000017.10:g.29528123_29528124dup	(Likely) pathogenic	1 lab	decc6e4787
X:152710361 TREX2 G>A	X	152710361	152710361	G	A	TREX2	c.528C>T	NM_080701.3	NP_542432.2:p.(Phe176=)	NC_000023.10:g.152710361G>A	(Likely) benign	1 lab	decd2d5f5e
2:239307550 TRAF3IP1 C>T	2	239307550	239307550	C	T	TRAF3IP1	c.2066C>T	NM_015650.3	NP_056465.2:p.(Ser689Leu)	NC_000002.11:g.239307550C>T	(Likely) benign	1 lab	dece299d61
10:31810057 ZEB1 A>G	10	31810057	31810057	A	G	ZEB1	c.1140A>G	NM_001323638.1	NP_001310567.1:p.(Ala380=)	NC_000010.10:g.31810057A>G	(Likely) benign	1 lab	dece3e3cf8
10:50678347 ERCC6 G>A	10	50678347	50678347	G	A	ERCC6	c.3659C>T	NM_000124.2	NP_000115.1:p.(Thr1220Ile)	NC_000010.10:g.50678347G>A	(Likely) benign	1 lab	deceb9ab17
7:131122592 MKLN1 C>T	7	131122592	131122592	C	T	MKLN1	c.940C>T	NM_001145354.1	NP_001138826.1:p.(Arg314Trp)	NC_000007.13:g.131122592C>T	VUS	1 lab	ded06732c3
2:217285048 SMARCAL1 G>A	2	217285048	217285048	G	A	SMARCAL1	c.889G>A	NM_014140.3	NP_054859.2:p.(Val297Ile)	NC_000002.11:g.217285048G>A	VUS	1 lab	ded0841beb
2:179426680 TTN C>T	2	179426680	179426680	C	T	TTN	c.84179G>A	NM_001267550.1	NP_001254479.1:p.(Gly28060Asp)	NC_000002.11:g.179426680C>T	VUS	1 lab	ded1bb2af3
19:2109138 AP3D1 C>T	19	2109138	2109138	C	T	AP3D1	c.3419G>A	NM_001261826.3	NP_001248755.1:p.(Arg1140Gln)	NC_000019.9:g.2109138C>T	(Likely) benign	1 lab	ded30733c1
X:13337791 ATXN3L C>T	X	13337791	13337791	C	T	ATXN3L	c.263G>A	NM_001135995.1	NP_001129467.1:p.(Gly88Asp)	NC_000023.10:g.13337791C>T	VUS	1 lab	ded4b63012
11:72145165 CLPB C>G	11	72145165	72145165	C	G	CLPB	c.112G>C	NM_001258394.2	NP_001245323.1:p.(Gly38Arg)	NC_000011.9:g.72145165C>G	VUS	1 lab	ded4cb57c4
X:153215858 HCFC1 G>GCCAGCTGGGCCGGGGTGGAGC	X	153215858	153215879	G	GCCAGCTGGGCCGGGGTGGAGC	HCFC1	c.5819_5839dup	NM_005334.2	NP_005325.2:p.(Leu1946_Ala1947insGlySerThrProAlaGlnLeu)	NC_000023.10:g.153215859_153215879dup	VUS	1 lab	ded56cd987
7:5568127 ACTB C>T	7	5568127	5568127	C	T	ACTB	c.587G>A	NM_001101.3	NP_001092.1:p.(Arg196His)	NC_000007.13:g.5568127C>T	(Likely) pathogenic	1 lab	ded66c5e55
17:40696171 NAGLU C>T	17	40696171	40696171	C	T	NAGLU	c.2147C>T	NM_000263.3	NP_000254.2:p.(Pro716Leu)	NC_000017.10:g.40696171C>T	VUS	1 lab	ded73957ad
1:17322788 ATP13A2 G>T	1	17322788	17322788	G	T	ATP13A2	c.1299C>A	NM_001141973.2	NP_001135445.1:p.(Leu433=)	NC_000001.10:g.17322788G>T	(Likely) benign	1 lab	ded81ddf4f
12:995249 WNK1 C>T	12	995249	995249	C	T	WNK1	c.6059C>T	NM_001184985.1	NP_001171914.1:p.(Pro2020Leu)	NC_000012.11:g.995249C>T	VUS	1 lab	ded8644098
11:78383240 TENM4 G>A	11	78383240	78383240	G	A	TENM4	c.5631C>T	NM_001098816.2	NP_001092286.2:p.(Ser1877=)	NC_000011.9:g.78383240G>A	(Likely) benign	1 lab	ded86bec31
2:166805917 TTC21B C>A	2	166805917	166805917	C	A	TTC21B	c.249G>T	NM_024753.4	NP_079029.3:p.(Met83Ile)	NC_000002.11:g.166805917C>A	(Likely) benign	1 lab	dedafe7ef2
22:32889249 FBXO7 A>G	22	32889249	32889249	A	G	FBXO7	c.1125A>G	NM_012179.3	NP_036311.3:p.(Leu375=)	NC_000022.10:g.32889249A>G	(Likely) benign	1 lab	dedc4a950c
15:62241654 VPS13C C>T	15	62241654	62241654	C	T	VPS13C	c.4747G>A	NM_001018088.2	NP_001018098.1:p.(Ala1583Thr)	NC_000015.9:g.62241654C>T	(Likely) benign	1 lab	dedd837067
12:56396024 SUOX G>A	12	56396024	56396024	G	A	SUOX	c.19G>A	NM_000456.2	NP_000447.2:p.(Ala7Thr)	NC_000012.11:g.56396024G>A	(Likely) benign	1 lab	dee2d01603
1:152284556 FLG A>G	1	152284556	152284556	A	G	FLG	c.2806T>C	NM_002016.1	NP_002007.1:p.(Ser936Pro)	NC_000001.10:g.152284556A>G	(Likely) benign	1 lab	dee37d7064
11:94224115 MRE11 A>T	11	94224115	94224115	A	T	MRE11	c.37T>A	NM_001330347.1	NP_001317276.1:p.(Phe13Ile)	NC_000011.9:g.94224115A>T	VUS	1 lab	dee5b9e8e6
X:100746669 ARMCX4 G>T	X	100746669	100746669	G	T	ARMCX4	c.3093G>T	NM_001256155.2	NP_001243084.2:p.(Gln1031His)	NC_000023.10:g.100746669G>T	VUS	1 lab	dee5bc6b43
7:100644377 MUC12 C>A	7	100644377	100644377	C	A	MUC12	c.10533C>A	NM_001164462.1	NP_001157934.1:p.(Thr3511=)	NC_000007.13:g.100644377C>A	(Likely) benign	1 lab	dee68a023d
1:237829845 RYR2 C>T	1	237829845	237829845	C	T	RYR2	c.8470C>T	NM_001035.2	NP_001026.2:p.(Arg2824Trp)	NC_000001.10:g.237829845C>T	VUS	1 lab	dee7422385
1:12008092 PLOD1 C>T	1	12008092	12008092	C	T	PLOD1	c.136C>T	NM_000302.3	NP_000293.2:p.(Arg46Cys)	NC_000001.10:g.12008092C>T	VUS	1 lab	dee85ce5b0
11:534398 HRAS GCCAGGCCCAGGC>G	11	534398	534414	GCCAGGCCCAGGC	G	HRAS	c.-53-35_-53-24del	NM_005343.4	NP_005334.1:p.?	NC_000011.9:g.534403_534414del	(Likely) benign	1 lab	dee85d956a
X:153219715 HCFC1 C>T	X	153219715	153219715	C	T	HCFC1	c.4135G>A	NM_005334.2	NP_005325.2:p.(Asp1379Asn)	NC_000023.10:g.153219715C>T	(Likely) benign	1 lab	dee8f04cb1
11:72013383 CLPB T>C	11	72013383	72013383	T	C	CLPB	c.1222A>G	NM_030813.6	NP_110440.1:p.(Arg408Gly)	NC_000011.9:g.72013383T>C	(Likely) pathogenic	1 lab	dee9d61b5c
8:49643991 CLXN GACCTTGCCTCTCT>G	8	49643991	49644006	GACCTTGCCTCTCT	G	CLXN	c.117_129del	NM_024593.4	NP_078869.1:p.(Glu40TrpfsTer16)	NC_000008.10:g.49643994_49644006del	VUS	1 lab	deeb1fe4c9
12:80660395 OTOGL A>G	12	80660395	80660395	A	G	OTOGL	c.2362A>G	NM_173591.3	NP_775862.3:p.(Ile788Val)	NC_000012.11:g.80660395A>G	VUS	1 lab	deebbd85bc
X:152772057 BGN C>T	X	152772057	152772057	C	T	BGN	c.636C>T	NM_001711.5	NP_001702.1:p.(Tyr212=)	NC_000023.10:g.152772057C>T	(Likely) benign	1 lab	deec165541
X:70472580 ZMYM3 C>T	X	70472580	70472580	C	T	ZMYM3	c.526G>A	NM_001171162.1	NP_001164633.1:p.(Glu176Lys)	NC_000023.10:g.70472580C>T	(Likely) benign	1 lab	deec6a6f88
1:22201461 HSPG2 C>T	1	22201461	22201461	C	T	HSPG2	c.3340G>A	NM_001291860.1	NP_001278789.1:p.(Glu1114Lys)	NC_000001.10:g.22201461C>T	(Likely) benign	1 lab	deed71f5ab
16:2129370 TSC2 C>T	16	2129370	2129370	C	T	TSC2	c.3225C>T	NM_000548.3	NP_000539.2:p.(Thr1075=)	NC_000016.9:g.2129370C>T	(Likely) benign	1 lab	deedd1c9c3
16:67208257 NOL3 T>C	16	67208257	67208257	T	C	NOL3	c.185T>C	NM_001276312.1	NP_001263241.1:p.(Leu62Pro)	NC_000016.9:g.67208257T>C	VUS	1 lab	deee78a391
9:101907062 TGFBR1 T>C	9	101907062	101907062	T	C	TGFBR1	c.1034T>C	NM_001306210.1	NP_001293139.1:p.(Val345Ala)	NC_000009.11:g.101907062T>C	VUS	1 lab	deeee3504c
1:155207984 GBA1 C>A	1	155207984	155207984	C	A	GBA1	c.702G>T	NM_001005741.2	NP_001005741.1:p.(Gly234=)	NC_000001.10:g.155207984C>A	(Likely) benign	1 lab	def10aa148
3:123008754 ADCY5 G>A	3	123008754	123008754	G	A	ADCY5	c.3375C>T	NM_183357.2	NP_899200.1:p.(Ile1125=)	NC_000003.11:g.123008754G>A	(Likely) benign	1 lab	def1c8cff0
15:90191810 KIF7 C>G	15	90191810	90191810	C	G	KIF7	c.1119G>C	NM_198525.2	NP_940927.2:p.(Arg373=)	NC_000015.9:g.90191810C>G	(Likely) benign	1 lab	def27d172b
13:39425117 FREM2 A>G	13	39425117	39425117	A	G	FREM2	c.6614A>G	NM_207361.5	NP_997244.4:p.(Asp2205Gly)	NC_000013.10:g.39425117A>G	VUS	1 lab	def2a9574e
11:64575129 MEN1 T>C	11	64575129	64575129	T	C	MEN1	c.693A>G	NM_130803.2	NP_570715.1:p.(Ser231=)	NC_000011.9:g.64575129T>C	(Likely) benign	1 lab	def342cfbd
19:8670517 ADAMTS10 G>A	19	8670517	8670517	G	A	ADAMTS10	c.79C>T	NM_030957.3	NP_112219.3:p.(Arg27Trp)	NC_000019.9:g.8670517G>A	VUS	1 lab	def4e2e11b
10:108412224 SORCS1 C>T	10	108412224	108412224	C	T	SORCS1	c.2391G>A	NM_001206572.1	NP_001193501.1:p.(Pro797=)	NC_000010.10:g.108412224C>T	(Likely) benign	1 lab	def5bc3341
9:135800998 TSC1 CA>C	9	135800998	135801002	CA	C	TSC1	c.338del	NM_000368.5	NP_000359.1:p.(Leu113CysfsTer5)	NC_000009.11:g.135801002del	(Likely) pathogenic	1 lab	def6b44f14
17:29548949 NF1 T>A	17	29548949	29548949	T	A	NF1	c.1721+2T>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548949T>A	(Likely) pathogenic	1 lab	def80e5026
7:97481643 ASNS C>T	7	97481643	97481643	C	T	ASNS	c.1614G>A	NM_001352496.1	NP_001339425.1:p.(Met538Ile)	NC_000007.13:g.97481643C>T	VUS	1 lab	def94ba133
11:86662789 FZD4 G>T	11	86662789	86662789	G	T	FZD4	c.1009C>A	NM_012193.3	NP_036325.2:p.(His337Asn)	NC_000011.9:g.86662789G>T	VUS	1 lab	defac0f68c
X:102931782 MORF4L2 T>C	X	102931782	102931782	T	C	MORF4L2	c.174A>G	NM_001142418.1	NP_001135890.1:p.(Arg58=)	NC_000023.10:g.102931782T>C	VUS	1 lab	defad82bd7
19:13325050 CACNA1A C>T	19	13325050	13325050	C	T	CACNA1A	c.5955G>A	NM_023035.2	NP_075461.2:p.(Glu1985=)	NC_000019.9:g.13325050C>T	(Likely) benign	1 lab	defb12f716
1:115258746 NRAS A>C	1	115258746	115258746	A	C	NRAS				NC_000001.10:g.115258746A>C	(Likely) benign	1 lab	defc871088
22:50279729 ZBED4 G>A	22	50279729	50279729	G	A	ZBED4	c.2419G>A	NM_014838.3	NP_055653.2:p.(Val807Ile)	NC_000022.10:g.50279729G>A	VUS	1 lab	deff178d03
X:128902351 XPNPEP2 G>A	X	128902351	128902351	G	A	XPNPEP2	c.1915G>A	NM_003399.5	NP_003390.4:p.(Glu639Lys)	NC_000023.10:g.128902351G>A	(Likely) benign	1 lab	df00764c7a
17:48264226 COL1A1 C>T	17	48264226	48264226	C	T	COL1A1	c.3589G>A	NM_000088.3	NP_000079.2:p.(Asp1197Asn)	NC_000017.10:g.48264226C>T	VUS	1 lab	df010dd8a7
2:166615338 GALNT3 T>C	2	166615338	166615338	T	C	GALNT3	c.1110A>G	NM_004482.3	NP_004473.2:p.(Ser370=)	NC_000002.11:g.166615338T>C	(Likely) benign	1 lab	df0304c14c
12:89818992 POC1B G>A	12	89818992	89818992	G	A	POC1B	c.1278C>T	NM_172240.2	NP_758440.1:p.(Leu426=)	NC_000012.11:g.89818992G>A	(Likely) benign	1 lab	df035dfaef
13:32915331 BRCA2 T>TA	13	32915331	32915332	T	TA	BRCA2	c.6839_6840insA	NM_000059.3	NP_000050.2:p.(Glu2282ArgfsTer11)	NC_000013.10:g.32915331_32915332insA	(Likely) pathogenic	1 lab	df0471e264
2:38298262 CYP1B1 T>A	2	38298262	38298262	T	A	CYP1B1	c.1235A>T	NM_000104.3	NP_000095.2:p.(Tyr412Phe)	NC_000002.11:g.38298262T>A	(Likely) benign	1 lab	df06129fcf
7:91708543 AKAP9 A>G	7	91708543	91708543	A	G	AKAP9	c.7096A>G	NM_005751.4	NP_005742.4:p.(Ile2366Val)	NC_000007.13:g.91708543A>G	VUS	1 lab	df066d5498
4:77661150 SHROOM3 T>G	4	77661150	77661150	T	G	SHROOM3	c.1824T>G	NM_020859.3	NP_065910.3:p.(Ala608=)	NC_000004.11:g.77661150T>G	(Likely) benign	1 lab	df075d9e41
17:74018282 EVPL G>T	17	74018282	74018282	G	T	EVPL	c.633C>A	NM_001320747.1	NP_001307676.1:p.(Tyr211Ter)	NC_000017.10:g.74018282G>T	VUS	1 lab	df0902fe67
5:149434900 CSF1R C>T	5	149434900	149434900	C	T	CSF1R	c.2555-1G>A	NM_005211.3	NP_005202.2:p.?	NC_000005.9:g.149434900C>T	(Likely) pathogenic	1 lab	df0a30f6be
X:20043066 MAP7D2 T>C	X	20043066	20043066	T	C	MAP7D2	c.1412+3A>G	NM_001168465.2	NP_001161937.1:p.?	NC_000023.10:g.20043066T>C	(Likely) benign	1 lab	df0af1640e
16:66434744 CDH5 C>T	16	66434744	66434744	C	T	CDH5	c.1662C>T	NM_001795.5	NP_001786.2:p.(Pro554=)	NC_000016.9:g.66434744C>T	(Likely) benign	1 lab	df0c20b203
X:47307845 ZNF41 C>T	X	47307845	47307845	C	T	ZNF41	c.1324G>A	NM_007130.3	NP_009061.1:p.(Ala442Thr)	NC_000023.10:g.47307845C>T	(Likely) benign	1 lab	df0ca01471
X:77266648 ATP7A A>C	X	77266648	77266648	A	C	ATP7A	c.1870-25A>C	NM_000052.6	NP_000043.4:p.?	NC_000023.10:g.77266648A>C	(Likely) benign	1 lab	df0d4ba30f
7:41739713 INHBA A>C	7	41739713	41739713	A	C	INHBA	c.260T>G	NM_002192.4	NP_002183.1:p.(Ile87Ser)	NC_000007.13:g.41739713A>C	VUS	1 lab	df0dcda858
19:3977413 EEF2 G>A	19	3977413	3977413	G	A	EEF2	c.2250+13C>T	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3977413G>A	(Likely) benign	1 lab	df0f61d4bd
3:48612930 COL7A1 G>A	3	48612930	48612930	G	A	COL7A1				NC_000003.11:g.48612930G>A	(Likely) pathogenic	1 lab	12340e5151
16:67977886 LCAT G>A	16	67977886	67977886	G	A	LCAT	c.119C>T	NM_000229.1	NP_000220.1:p.(Ala40Val)	NC_000016.9:g.67977886G>A	(Likely) benign	1 lab	df0fc46363
2:210678386 UNC80 C>T	2	210678386	210678386	C	T	UNC80	c.1021C>T	NM_032504.1	NP_115893.1:p.(Pro341Ser)	NC_000002.11:g.210678386C>T	VUS	1 lab	df125f0c0d
17:16675953 CCDC144A C>T	17	16675953	16675953	C	T	CCDC144A	c.4181C>T	NM_014695.2	NP_055510.1:p.(Ser1394Leu)	NC_000017.10:g.16675953C>T	(Likely) benign	1 lab	df13558167
20:40045967 CHD6 T>C	20	40045967	40045967	T	C	CHD6	c.6150A>G	NM_032221.4	NP_115597.3:p.(Glu2050=)	NC_000020.10:g.40045967T>C	(Likely) benign	1 lab	df14a84cd2
X:30326399 NR0B1 A>T	X	30326399	30326399	A	T	NR0B1	c.1082T>A	NM_000475.4	NP_000466.2:p.(Ile361Asn)	NC_000023.10:g.30326399A>T	(Likely) pathogenic	1 lab	df14d00c1e
X:48896791 TFE3 C>G	X	48896791	48896791	C	G	TFE3	c.375G>C	NM_006521.5	NP_006512.2:p.(Ala125=)	NC_000023.10:g.48896791C>G	(Likely) benign	1 lab	df158eac4c
2:32477498 NLRC4 C>T	2	32477498	32477498	C	T	NLRC4	c.252G>A	NM_021209.4	NP_067032.3:p.(Leu84=)	NC_000002.11:g.32477498C>T	(Likely) benign	1 lab	df170727a5
16:57695754 ADGRG1 C>T	16	57695754	57695754	C	T	ADGRG1	c.1810C>T	NM_001145772.2	NP_001139244.1:p.(Leu604=)	NC_000016.9:g.57695754C>T	(Likely) benign	1 lab	df1772483c
11:76912580 MYO7A G>C	11	76912580	76912580	G	C	MYO7A	c.4940G>C	NM_000260.3	NP_000251.3:p.(Gly1647Ala)	NC_000011.9:g.76912580G>C	VUS	1 lab	df17744354
13:32954218 BRCA2 C>A	13	32954218	32954218	C	A	BRCA2	c.9192C>A	NM_000059.3	NP_000050.2:p.(Asp3064Glu)	NC_000013.10:g.32954218C>A	(Likely) pathogenic	1 lab	df177e21bf
11:117860343 IL10RA TC>T	11	117860343	117860345	TC	T	IL10RA	c.367+10del	NM_001558.4	NP_001549.2:p.?	NC_000011.9:g.117860345del	(Likely) benign	1 lab	df183a6f97
X:151138672 GABRE G>A	X	151138672	151138672	G	A	GABRE	c.259C>T	NM_004961.3	NP_004952.2:p.(Arg87Cys)	NC_000023.10:g.151138672G>A	VUS	1 lab	df18545f32
17:29652869 NF1 CTGATATA>C	17	29652869	29652876	CTGATATA	C	NF1	c.4868_4874del	NM_001042492.3	NP_001035957.1:p.(Leu1623ProfsTer5)	NC_000017.10:g.29652870_29652876del	(Likely) pathogenic	1 lab	df18cdecaa
X:77267070 ATP7A G>T	X	77267070	77267070	G	T	ATP7A	c.2071G>T	NM_000052.6	NP_000043.4:p.(Glu691Ter)	NC_000023.10:g.77267070G>T	(Likely) pathogenic	1 lab	df1944be10
X:118109098 LONRF3 G>A	X	118109098	118109098	G	A	LONRF3	c.355G>A	NM_001031855.2	NP_001027026.1:p.(Glu119Lys)	NC_000023.10:g.118109098G>A	(Likely) benign	1 lab	df196a1d6f
17:18058505 MYO15A G>A	17	18058505	18058505	G	A	MYO15A	c.8306G>A	NM_016239.3	NP_057323.3:p.(Trp2769Ter)	NC_000017.10:g.18058505G>A	(Likely) pathogenic	1 lab	df1a1adbed
1:237947564 RYR2 G>A	1	237947564	237947564	G	A	RYR2	c.12552G>A	NM_001035.2	NP_001026.2:p.(Glu4184=)	NC_000001.10:g.237947564G>A	(Likely) benign	1 lab	df1a277e9d
15:100636686 ADAMTS17 A>G	15	100636686	100636686	A	G	ADAMTS17	c.2017-5T>C	NM_139057.3	NP_620688.2:p.?	NC_000015.9:g.100636686A>G	(Likely) benign	1 lab	df1a623ef0
1:114401142 PTPN22 G>A	1	114401142	114401142	G	A	PTPN22	c.327C>T	NM_015967.6	NP_057051.3:p.(Thr109=)	NC_000001.10:g.114401142G>A	(Likely) benign	1 lab	df1ac25ab4
16:23428358 COG7 T>G	16	23428358	23428358	T	G	COG7	c.1222A>C	NM_153603.3	NP_705831.1:p.(Arg408=)	NC_000016.9:g.23428358T>G	(Likely) benign	1 lab	df1b2862ed
7:83758508 SEMA3A A>G	7	83758508	83758508	A	G	SEMA3A	c.271-7T>C	NM_006080.2	NP_006071.1:p.?	NC_000007.13:g.83758508A>G	(Likely) benign	1 lab	df1bdace8f
16:30198721 CORO1A G>A	16	30198721	30198721	G	A	CORO1A	c.655G>A	NM_007074.3	NP_009005.1:p.(Glu219Lys)	NC_000016.9:g.30198721G>A	(Likely) benign	1 lab	df1c2a0595
13:20797131 GJB6 C>T	13	20797131	20797131	C	T	GJB6	c.489G>A	NM_001110219.3	NP_001103689.1:p.(Leu163=)	NC_000013.10:g.20797131C>T	(Likely) benign	1 lab	df1da17bd3
22:30069392 NF2 G>C	22	30069392	30069392	G	C	NF2	c.1257G>C	NM_181832.2	NP_861970.1:p.(Thr419=)	NC_000022.10:g.30069392G>C	(Likely) benign	1 lab	df1eb79919
8:61693860 CHD7 C>G	8	61693860	61693860	C	G	CHD7				NC_000008.10:g.61693860C>G	VUS	1 lab	df1ff8b3b3
16:29989180 TAOK2 T>C	16	29989180	29989180	T	C	TAOK2	c.87T>C	NM_016151.4	NP_057235.2:p.(Ser29=)	NC_000016.9:g.29989180T>C	(Likely) benign	1 lab	df2014fdac
11:134093812 NCAPD3 C>T	11	134093812	134093812	C	T	NCAPD3	c.9G>A	NM_015261.2	NP_056076.1:p.(Ala3=)	NC_000011.9:g.134093812C>T	(Likely) benign	1 lab	df204fd1ac
8:7829301 USP17L8 A>G	8	7829301	7829301	A	G	USP17L8	c.1475T>C	NM_001256872.1	NP_001243801.1:p.(Met492Thr)	NC_000008.10:g.7829301A>G	(Likely) benign	1 lab	df20ff9478
17:29557349 NF1 TA>T	17	29557349	29557351	TA	T	NF1	c.3064del	NM_001042492.3	NP_001035957.1:p.(Met1022Ter)	NC_000017.10:g.29557351del	(Likely) pathogenic	1 lab	df220ab9aa
X:55784706 RRAGB G>A	X	55784706	55784706	G	A	RRAGB	c.1055G>A	NM_016656.3	NP_057740.2:p.(Arg352His)	NC_000023.10:g.55784706G>A	VUS	1 lab	df23289a9e
5:42718433 GHR T>TTA	5	42718433	42718438	T	TTA	GHR	c.946-118_946-117dup	NM_000163.4	NP_000154.1:p.?	NC_000005.9:g.42718437_42718438dup	(Likely) benign	1 lab	df26aeee18
11:58979745 MPEG1 C>G	11	58979745	58979745	C	G	MPEG1	c.594G>C	NM_001039396.1	NP_001034485.1:p.(Val198=)	NC_000011.9:g.58979745C>G	(Likely) benign	1 lab	df26c06564
X:41204806 DDX3X C>T	X	41204806	41204806	C	T	DDX3X	c.757+5C>T	NM_001363819.1	NP_001350748.1:p.?	NC_000023.10:g.41204806C>T	(Likely) benign	1 lab	df278ef09e
15:49048461 CEP152 G>A	15	49048461	49048461	G	A	CEP152	c.2984C>T	NM_001194998.1	NP_001181927.1:p.(Ala995Val)	NC_000015.9:g.49048461G>A	VUS	1 lab	df28202687
10:101997869 CWF19L1 A>G	10	101997869	101997869	A	G	CWF19L1	c.753T>C	NM_001303405.1	NP_001290334.1:p.(Tyr251=)	NC_000010.10:g.101997869A>G	(Likely) benign	1 lab	df28dca377
X:53460724 HSD17B10 C>A	X	53460724	53460724	C	A	HSD17B10	c.137G>T	NM_004493.2	NP_004484.1:p.(Gly46Val)	NC_000023.10:g.53460724C>A	(Likely) benign	1 lab	df2aad5497
11:17580595 OTOG A>C	11	17580595	17580595	A	C	OTOG	c.1140-4A>C	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17580595A>C	(Likely) benign	1 lab	df2abdfaac
X:107320521 VSIG1 G>GGAGCCAGAGCCA	X	107320521	107320548	G	GGAGCCAGAGCCA	VSIG1	c.1198_1209dup	NM_001170553.1	NP_001164024.1:p.(Pro400_Glu403dup)	NC_000023.10:g.107320537_107320548dup	(Likely) benign	1 lab	df2ce224e1
6:46047743 CLIC5 T>A	6	46047743	46047743	T	A	CLIC5	c.237A>T	NM_001114086.1	NP_001107558.1:p.(Arg79Ser)	NC_000006.11:g.46047743T>A	(Likely) benign	1 lab	df2ce4e2f0
1:236898983 ACTN2 T>C	1	236898983	236898983	T	C	ACTN2	c.746T>C	NM_001103.3	NP_001094.1:p.(Val249Ala)	NC_000001.10:g.236898983T>C	VUS	1 lab	df2d1bc30a
9:34485237 DNAI1 C>T	9	34485237	34485237	C	T	DNAI1	c.179C>T	NM_012144.3	NP_036276.1:p.(Ala60Val)	NC_000009.11:g.34485237C>T	(Likely) benign	1 lab	df2e38b79d
14:64593458 SYNE2 C>T	14	64593458	64593458	C	T	SYNE2	c.13850C>T	NM_182914.2	NP_878918.2:p.(Thr4617Ile)	NC_000014.8:g.64593458C>T	(Likely) benign	1 lab	df316c6b7c
12:122710507 DIABLO G>A	12	122710507	122710507	G	A	DIABLO	c.50+5C>T	NM_019887.5	NP_063940.1:p.?	NC_000012.11:g.122710507G>A	(Likely) benign	1 lab	df32cfede2
17:76135305 TMC8 G>T	17	76135305	76135305	G	T	TMC8	c.1886G>T	NM_152468.4	NP_689681.2:p.(Arg629Leu)	NC_000017.10:g.76135305G>T	VUS	1 lab	df3430e678
22:28194927 MN1 C>T	22	28194927	28194927	C	T	MN1	c.1605G>A	NM_002430.2	NP_002421.3:p.(Gln535=)	NC_000022.10:g.28194927C>T	(Likely) benign	1 lab	df3621cc55
2:179602796 TTN G>C	2	179602796	179602796	G	C	TTN	c.14371+13C>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179602796G>C	(Likely) benign	1 lab	df377e0718
21:46876156 COL18A1 A>C	21	46876156	46876156	A	C	COL18A1	c.712A>C	NM_130444.3	NP_569711.2:p.(Ser238Arg)	NC_000021.8:g.46876156A>C	(Likely) benign	1 lab	df37ba02df
17:27417836 MYO18A C>T	17	27417836	27417836	C	T	MYO18A	c.5296G>A	NM_078471.3	NP_510880.2:p.(Val1766Met)	NC_000017.10:g.27417836C>T	VUS	1 lab	df394bf6cc
8:140631199 KCNK9 T>C	8	140631199	140631199	T	C	KCNK9	c.427A>G	NM_001282534.1	NP_001269463.1:p.(Ile143Val)	NC_000008.10:g.140631199T>C	(Likely) benign	1 lab	df39e1a301
9:136523487 DBH A>T	9	136523487	136523487	A	T	DBH	c.1772A>T	NM_000787.3	NP_000778.3:p.(Glu591Val)	NC_000009.11:g.136523487A>T	(Likely) benign	1 lab	df3c02b341
16:2106756 TSC2 G>A	16	2106756	2106756	G	A	TSC2	c.760G>A	NM_000548.3	NP_000539.2:p.(Glu254Lys)	NC_000016.9:g.2106756G>A	(Likely) benign	1 lab	df3c3473f6
7:133876453 LRGUK G>A	7	133876453	133876453	G	A	LRGUK	c.1381G>A	NM_144648.2	NP_653249.1:p.(Val461Ile)	NC_000007.13:g.133876453G>A	(Likely) benign	1 lab	df3ea2401d
2:99012861 CNGA3 CG>C	2	99012861	99012864	CG	C	CNGA3	c.1231del	NM_001298.3	NP_001289.1:p.(Ala411GlnfsTer54)	NC_000002.11:g.99012864del	(Likely) pathogenic	1 lab	df43ec0c58
2:73680453 ALMS1 A>T	2	73680453	73680453	A	T	ALMS1	c.6802A>T	NM_015120.4	NP_055935.4:p.(Met2268Leu)	NC_000002.11:g.73680453A>T	(Likely) benign	1 lab	df457dbace
17:42426884 GRN G>A	17	42426884	42426884	G	A	GRN	c.229G>A	NM_002087.2	NP_002078.1:p.(Val77Ile)	NC_000017.10:g.42426884G>A	VUS	1 lab	df489e9a85
8:141297730 TRAPPC9 G>A	8	141297730	141297730	G	A	TRAPPC9	c.2252C>T	NM_031466.6	NP_113654.4:p.(Thr751Met)	NC_000008.10:g.141297730G>A	VUS	1 lab	df49856bf7
2:239164504 PER2 G>A	2	239164504	239164504	G	A	PER2	c.2114C>T	NM_022817.2	NP_073728.1:p.(Ala705Val)	NC_000002.11:g.239164504G>A	VUS	1 lab	df49cbe768
6:170876000 TBP T>C	6	170876000	170876000	T	C	TBP	c.586-6T>C	NM_003194.4	NP_003185.1:p.?	NC_000006.11:g.170876000T>C	(Likely) benign	1 lab	df49f465da
9:131377986 SPTAN1 G>A	9	131377986	131377986	G	A	SPTAN1	c.5224G>A	NM_001130438.2	NP_001123910.1:p.(Asp1742Asn)	NC_000009.11:g.131377986G>A	VUS	1 lab	df4a0f7a7b
7:151267245 PRKAG2 AAAC>A	7	151267245	151267250	AAAC	A	PRKAG2	c.1106+9_1106+11del	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151267248_151267250del	(Likely) benign	1 lab	df4bef4b55
5:72348274 FCHO2 G>A	5	72348274	72348274	G	A	FCHO2	c.1113G>A	NM_138782.3	NP_620137.2:p.(Met371Ile)	NC_000005.9:g.72348274G>A	(Likely) benign	1 lab	df4e78d67d
14:89338726 TTC8 A>T	14	89338726	89338726	A	T	TTC8	c.1325A>T	NM_001288781.1	NP_001275710.1:p.(Asn442Ile)	NC_000014.8:g.89338726A>T	VUS	1 lab	df503bf402
13:84454198 SLITRK1 A>G	13	84454198	84454198	A	G	SLITRK1	c.1445T>C	NM_052910.2	NP_443142.1:p.(Leu482Pro)	NC_000013.10:g.84454198A>G	VUS	1 lab	df50d0735a
1:197101502 ASPM C>T	1	197101502	197101502	C	T	ASPM	c.2420-20G>A	NM_018136.4	NP_060606.3:p.?	NC_000001.10:g.197101502C>T	(Likely) benign	1 lab	df5188793f
1:228560180 OBSCN C>A	1	228560180	228560180	C	A	OBSCN	c.24572C>A	NM_001271223.2	NP_001258152.2:p.(Ser8191Ter)	NC_000001.10:g.228560180C>A	VUS	1 lab	df5228ee30
17:31618769 ASIC2 C>T	17	31618769	31618769	C	T	ASIC2	c.365G>A	NM_183377.1	NP_899233.1:p.(Arg122His)	NC_000017.10:g.31618769C>T	(Likely) benign	1 lab	df52b7fc2a
16:2130375 TSC2 A>C	16	2130375	2130375	A	C	TSC2	c.3607A>C	NM_000548.3	NP_000539.2:p.(Thr1203Pro)	NC_000016.9:g.2130375A>C	(Likely) pathogenic	1 lab	df5693e7fa
1:9777640 PIK3CD G>A	1	9777640	9777640	G	A	PIK3CD	c.976G>A	NM_005026.3	NP_005017.3:p.(Glu326Lys)	NC_000001.10:g.9777640G>A	(Likely) benign	1 lab	df5842f3fe
6:111686536 REV3L G>T	6	111686536	111686536	G	T	REV3L	c.6451C>A	NM_001286431.1	NP_001273360.1:p.(Gln2151Lys)	NC_000006.11:g.111686536G>T	(Likely) benign	1 lab	df5d06b725
11:121016740 TECTA C>T	11	121016740	121016740	C	T	TECTA	c.4020C>T	NM_005422.2	NP_005413.2:p.(Thr1340=)	NC_000011.9:g.121016740C>T	(Likely) benign	1 lab	df5f65d8c2
17:29657489 NF1 G>T	17	29657489	29657489	G	T	NF1	c.5722G>T	NM_000267.3	NP_000258.1:p.(Glu1908Ter)	NC_000017.10:g.29657489G>T	(Likely) pathogenic	1 lab	df5f8b1820
22:50861996 PPP6R2 A>G	22	50861996	50861996	A	G	PPP6R2	c.1078A>G	NM_001242898.2	NP_001229827.1:p.(Ser360Gly)	NC_000022.10:g.50861996A>G	(Likely) benign	1 lab	df600ec618
11:17757970 KCNC1 G>T	11	17757970	17757970	G	T	KCNC1	c.421G>T	NM_004976.4	NP_004967.1:p.(Asp141Tyr)	NC_000011.9:g.17757970G>T	VUS	1 lab	df60297799
10:98346520 TM9SF3 G>C	10	98346520	98346520	G	C	TM9SF3	c.73C>G	NM_020123.4	NP_064508.3:p.(Arg25Gly)	NC_000010.10:g.98346520G>C	(Likely) benign	1 lab	df644eda3b
12:6125925 VWF T>C	12	6125925	6125925	T	C	VWF	c.5165A>G	NM_000552.3	NP_000543.2:p.(Asn1722Ser)	NC_000012.11:g.6125925T>C	VUS	1 lab	df669c6996
2:141473617 LRP1B T>C	2	141473617	141473617	T	C	LRP1B	c.5948A>G	NM_018557.2	NP_061027.2:p.(Asn1983Ser)	NC_000002.11:g.141473617T>C	VUS	1 lab	df68759844
6:43306282 ZNF318 C>A	6	43306282	43306282	C	A	ZNF318	c.5454G>T	NM_014345.3	NP_055160.2:p.(Met1818Ile)	NC_000006.11:g.43306282C>A	(Likely) benign	1 lab	df68d6be2f
17:29686024 NF1 GTTTT>G	17	29686024	29686028	GTTTT	G	NF1	c.8152_8155del	NM_001042492.3	NP_001035957.1:p.(Phe2718GlnfsTer20)	NC_000017.10:g.29686025_29686028del	(Likely) pathogenic	1 lab	df68f6d479
9:79875040 VPS13A G>A	9	79875040	79875040	G	A	VPS13A	c.2327G>A	NM_033305.2	NP_150648.2:p.(Arg776Gln)	NC_000009.11:g.79875040G>A	(Likely) benign	1 lab	df69054436
17:18046889 MYO15A G>C	17	18046889	18046889	G	C	MYO15A	c.5920G>C	NM_016239.3	NP_057323.3:p.(Glu1974Gln)	NC_000017.10:g.18046889G>C	VUS	1 lab	df6c915b63
12:110032921 MVK G>A	12	110032921	110032921	G	A	MVK	c.974G>A	NM_000431.2	NP_000422.1:p.(Arg325His)	NC_000012.11:g.110032921G>A	(Likely) benign	1 lab	df6e362bd7
3:138664494 FOXL2 A>G	3	138664494	138664494	A	G	FOXL2	c.1071T>C	NM_023067.4	NP_075555.1:p.(His357=)	NC_000003.11:g.138664494A>G	(Likely) benign	1 lab	df6e6c85af
12:111885984 SH2B3 G>A	12	111885984	111885984	G	A	SH2B3	c.1606G>A	NM_005475.2	NP_005466.1:p.(Ala536Thr)	NC_000012.11:g.111885984G>A	(Likely) benign	1 lab	df7c905691
1:13414126 MISSING A>G	1	13414126	13414126	A	G	MISSING				NC_000001.10:g.13414126A>G	(Likely) benign	1 lab	df7268d56c
4:3188428 HTT C>T	4	3188428	3188428	C	T	HTT	c.4977C>T	NM_002111.8	NP_002102.4:p.(Phe1659=)	NC_000004.11:g.3188428C>T	(Likely) benign	1 lab	df736f58fd
1:160100205 ATP1A2 C>G	1	160100205	160100205	C	G	ATP1A2				NC_000001.10:g.160100205C>G	(Likely) benign	1 lab	df750b82cb
17:29560049 NF1 A>G	17	29560049	29560049	A	G	NF1	c.3526A>G	NM_000267.3	NP_000258.1:p.(Arg1176Gly)	NC_000017.10:g.29560049A>G	VUS	1 lab	df7518fa8d
X:102884878 TCEAL1 C>T	X	102884878	102884878	C	T	TCEAL1	c.34C>T	NM_001006640.1	NP_001006641.1:p.(Pro12Ser)	NC_000023.10:g.102884878C>T	(Likely) benign	1 lab	df770d9d0e
9:123342256 CDK5RAP2 T>C	9	123342256	123342256	T	C	CDK5RAP2	c.1A>G	NM_018249.5	NP_060719.4:p.(Met1?)	NC_000009.11:g.123342256T>C	VUS	1 lab	df7817d1a6
10:17113589 CUBN A>C	10	17113589	17113589	A	C	CUBN	c.2461T>G	NM_001081.3	NP_001072.2:p.(Leu821Val)	NC_000010.10:g.17113589A>C	VUS	1 lab	df785be80b
12:54914953 NCKAP1L A>G	12	54914953	54914953	A	G	NCKAP1L	c.1809A>G	NM_005337.5	NP_005328.2:p.(Glu603=)	NC_000012.11:g.54914953A>G	(Likely) benign	1 lab	df79fd3572
5:37170223 CPLANE1 C>T	5	37170223	37170223	C	T	CPLANE1	c.6382G>A	NM_023073.3	NP_075561.3:p.(Ala2128Thr)	NC_000005.9:g.37170223C>T	VUS	1 lab	df7a41c8f9
14:23862732 MYH6 C>T	14	23862732	23862732	C	T	MYH6	c.2929-5G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23862732C>T	VUS	1 lab	df7a5fff9b
21:47639491 LSS G>C	21	47639491	47639491	G	C	LSS	c.311-5C>G	NM_001145437.1	NP_001138909.1:p.?	NC_000021.8:g.47639491G>C	VUS	1 lab	df7bb4a086
4:996050 IDUA C>G	4	996050	996050	C	G	IDUA	c.973-7C>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996050C>G	(Likely) benign	1 lab	df7c46d28d
17:7216609 GPS2 A>G	17	7216609	7216609	A	G	GPS2	c.726T>C	NM_004489.5	NP_004480.1:p.(Gly242=)	NC_000017.10:g.7216609A>G	(Likely) benign	1 lab	df7c760cc5
15:66729093 MAP2K1 C>T	15	66729093	66729093	C	T	MAP2K1	c.301C>T	NM_002755.3	NP_002746.1:p.(Leu101=)	NC_000015.9:g.66729093C>T	(Likely) benign	1 lab	df7ce65d08
9:94123994 AUH C>T	9	94123994	94123994	C	T	AUH	c.178G>A	NM_001698.2	NP_001689.1:p.(Gly60Ser)	NC_000009.11:g.94123994C>T	(Likely) benign	1 lab	df7d888615
7:91504058 MTERF1 T>C	7	91504058	91504058	T	C	MTERF1	c.50A>G	NM_006980.4	NP_008911.1:p.(Tyr17Cys)	NC_000007.13:g.91504058T>C	(Likely) benign	1 lab	df7e80ca8a
5:77590372 AP3B1 T>C	5	77590372	77590372	T	C	AP3B1	c.32A>G	NM_003664.4	NP_003655.3:p.(Gln11Arg)	NC_000005.9:g.77590372T>C	VUS	1 lab	df839ddb04
5:132202685 UQCRQ G>A	5	132202685	132202685	G	A	UQCRQ	c.112G>A	NM_014402.4	NP_055217.2:p.(Val38Ile)	NC_000005.9:g.132202685G>A	(Likely) benign	1 lab	df840fc426
4:79403123 FRAS1 G>A	4	79403123	79403123	G	A	FRAS1	c.8604+5G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79403123G>A	VUS	1 lab	df8457a299
17:18024993 MYO15A C>G	17	18024993	18024993	C	G	MYO15A	c.2879C>G	NM_016239.3	NP_057323.3:p.(Pro960Arg)	NC_000017.10:g.18024993C>G	(Likely) benign	1 lab	df84971fa3
10:16994280 CUBN G>C	10	16994280	16994280	G	C	CUBN	c.4964C>G	NM_001081.3	NP_001072.2:p.(Pro1655Arg)	NC_000010.10:g.16994280G>C	VUS	1 lab	df84d0c6ef
17:29563057 NF1 A>G	17	29563057	29563057	A	G	NF1	c.3974+18A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29563057A>G	(Likely) benign	1 lab	df871e1a07
11:103068662 DYNC2H1 A>G	11	103068662	103068662	A	G	DYNC2H1	c.7709A>G	NM_001080463.1	NP_001073932.1:p.(Asp2570Gly)	NC_000011.9:g.103068662A>G	VUS	1 lab	df87bf296d
X:47082683 CDK16 A>T	X	47082683	47082683	A	T	CDK16	c.189A>T	NM_001170460.1	NP_001163931.1:p.(Ser63=)	NC_000023.10:g.47082683A>T	(Likely) benign	1 lab	df894e9410
9:26980567 IFT74 A>G	9	26980567	26980567	A	G	IFT74	c.257-2A>G	NM_001099222.2	NP_001092692.1:p.?	NC_000009.11:g.26980567A>G	(Likely) pathogenic	1 lab	df8bb484d5
9:100823121 NANS C>G	9	100823121	100823121	C	G	NANS	c.190C>G	NM_018946.3	NP_061819.2:p.(Arg64Gly)	NC_000009.11:g.100823121C>G	VUS	1 lab	df8c36adbe
6:33137664 COL11A2 G>A	6	33137664	33137664	G	A	COL11A2	c.3637-3C>T	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33137664G>A	(Likely) benign	1 lab	df8cdf4f3b
16:30969295 SETD1A G>C	16	30969295	30969295	G	C	SETD1A	c.-16+10G>C	NM_014712.2	NP_055527.1:p.?	NC_000016.9:g.30969295G>C	(Likely) benign	1 lab	df8dc06be1
17:70119715 SOX9 C>T	17	70119715	70119715	C	T	SOX9	c.717C>T	NM_000346.3	NP_000337.1:p.(Thr239=)	NC_000017.10:g.70119715C>T	(Likely) benign	1 lab	df8fb13598
1:92540412 SETSIP G>A	1	92540412	92540412	G	A	SETSIP	c.587C>T	NM_001287737.1	NP_001274666.1:p.(Thr196Met)	NC_000001.10:g.92540412G>A	VUS	1 lab	df96f49ae2
6:152841658 SYNE1 C>A	6	152841658	152841658	C	A	SYNE1	c.245G>T	NM_182961.3	NP_892006.3:p.(Arg82Leu)	NC_000006.11:g.152841658C>A	(Likely) benign	1 lab	df992bfd30
12:26277679 BHLHE41 G>C	12	26277679	26277679	G	C	BHLHE41	c.34C>G	NM_030762.2	NP_110389.1:p.(Gln12Glu)	NC_000012.11:g.26277679G>C	VUS	1 lab	df9b7c6a6d
9:136501808 DBH C>T	9	136501808	136501808	C	T	DBH	c.315C>T	NM_000787.3	NP_000778.3:p.(Thr105=)	NC_000009.11:g.136501808C>T	(Likely) benign	1 lab	df9ba1e3e6
6:135787520 AHI1 A>G	6	135787520	135787520	A	G	AHI1	c.190-9T>C	NM_001350503.1	NP_001337432.1:p.?	NC_000006.11:g.135787520A>G	(Likely) benign	1 lab	df9d521afc
17:29679412 NF1 C>T	17	29679412	29679412	C	T	NF1	c.7532C>T	NM_000267.3	NP_000258.1:p.(Ala2511Val)	NC_000017.10:g.29679412C>T	(Likely) benign	1 lab	df9d82c7ca
6:152712543 SYNE1 C>T	6	152712543	152712543	C	T	SYNE1	c.7873G>A	NM_182961.3	NP_892006.3:p.(Glu2625Lys)	NC_000006.11:g.152712543C>T	VUS	1 lab	dfa0e62b79
21:19653428 TMPRSS15 G>T	21	19653428	19653428	G	T	TMPRSS15	c.2597C>A	NM_002772.2	NP_002763.2:p.(Pro866His)	NC_000021.8:g.19653428G>T	(Likely) benign	1 lab	dfa4c1060d
12:48372444 COL2A1 G>A	12	48372444	48372444	G	A	COL2A1	c.2831C>T	NM_001844.4	NP_001835.3:p.(Pro944Leu)	NC_000012.11:g.48372444G>A	(Likely) benign	1 lab	dfa620344f
12:49579759 TUBA1A C>G	12	49579759	49579759	C	G	TUBA1A	c.390G>C	NM_001270399.1	NP_001257328.1:p.(Thr130=)	NC_000012.11:g.49579759C>G	(Likely) benign	1 lab	dfa68f91b9
16:90001186 TUBB3 G>A	16	90001186	90001186	G	A	TUBB3	c.327G>A	NM_006086.4	NP_006077.2:p.(Gly109=)	NC_000016.9:g.90001186G>A	(Likely) benign	1 lab	dfa771923f
1:207941004 CD46 A>C	1	207941004	207941004	A	C	CD46	c.901+8A>C	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207941004A>C	(Likely) benign	1 lab	dfa9b0d72a
2:3685162 COLEC11 G>A	2	3685162	3685162	G	A	COLEC11	c.233G>A	NM_199235.2	NP_954705.1:p.(Arg78His)	NC_000002.11:g.3685162G>A	VUS	1 lab	dfab072a4b
17:56356732 MPO C>A	17	56356732	56356732	C	A	MPO	c.604G>T	NM_000250.1	NP_000241.1:p.(Glu202Ter)	NC_000017.10:g.56356732C>A	(Likely) pathogenic	1 lab	dfab2e400c
12:120221805 CIT A>T	12	120221805	120221805	A	T	CIT	c.1452T>A	NM_001206999.1	NP_001193928.1:p.(Ala484=)	NC_000012.11:g.120221805A>T	(Likely) benign	1 lab	dfab7ace22
7:154379758 MISSING C>A	7	154379758	154379758	C	A	MISSING				NC_000007.13:g.154379758C>A	(Likely) benign	1 lab	dfaba81004
16:11009430 CIITA G>A	16	11009430	11009430	G	A	CIITA	c.2895G>A	NM_001286402.1	NP_001273331.1:p.(Leu965=)	NC_000016.9:g.11009430G>A	(Likely) benign	1 lab	dfac7769a4
1:43805205 MPL C>G	1	43805205	43805205	C	G	MPL	c.655C>G	NM_005373.2	NP_005364.1:p.(Gln219Glu)	NC_000001.10:g.43805205C>G	(Likely) benign	1 lab	dfacd90365
1:47685569 TAL1 G>C	1	47685569	47685569	G	C	TAL1	c.819C>G	NM_003189.5	NP_003180.1:p.(Gly273=)	NC_000001.10:g.47685569G>C	(Likely) benign	1 lab	dfad9a9f7f
8:119123080 EXT1 TCC>T	8	119123080	119123083	TCC	T	EXT1	c.204_205del	NM_000127.3	NP_000118.2:p.(Trp68Ter)	NC_000008.10:g.119123082_119123083del	(Likely) pathogenic	1 lab	dfafb46f32
1:235922709 LYST A>T	1	235922709	235922709	A	T	LYST	c.6444T>A	NM_001301365.1	NP_001288294.1:p.(Asn2148Lys)	NC_000001.10:g.235922709A>T	(Likely) benign	1 lab	dfafb5b5a3
X:84561204 POF1B G>T	X	84561204	84561204	G	T	POF1B	c.1300C>A	NM_024921.3	NP_079197.3:p.(Gln434Lys)	NC_000023.10:g.84561204G>T	(Likely) benign	1 lab	dfb0ad2701
4:79421051 FRAS1 A>G	4	79421051	79421051	A	G	FRAS1	c.9292A>G	NM_025074.7	NP_079350.5:p.(Ser3098Gly)	NC_000004.11:g.79421051A>G	VUS	1 lab	dfb14d0b21
14:64916198 MTHFD1 G>A	14	64916198	64916198	G	A	MTHFD1	c.2315G>A	NM_005956.4	NP_005947.3:p.(Arg772His)	NC_000014.8:g.64916198G>A	(Likely) benign	1 lab	dfb1adc035
19:46281794 DMPK C>T	19	46281794	46281794	C	T	DMPK	c.568G>A	NM_001081563.2	NP_001075032.1:p.(Val190Ile)	NC_000019.9:g.46281794C>T	VUS	1 lab	dfb1bdb7dd
2:135920394 RAB3GAP1 C>T	2	135920394	135920394	C	T	RAB3GAP1	c.2463C>T	NM_001172435.1	NP_001165906.1:p.(Phe821=)	NC_000002.11:g.135920394C>T	(Likely) benign	1 lab	dfb28cfded
19:33167865 RGS9BP G>A	19	33167865	33167865	G	A	RGS9BP	c.696G>A	NM_207391.2	NP_997274.2:p.(Ala232=)	NC_000019.9:g.33167865G>A	(Likely) benign	1 lab	dfb2acc8c4
1:6171889 CHD5 A>G	1	6171889	6171889	A	G	CHD5	c.5195T>C	NM_015557.3	NP_056372.1:p.(Ile1732Thr)	NC_000001.10:g.6171889A>G	VUS	1 lab	dfb3137851
X:47035934 RBM10 G>A	X	47035934	47035934	G	A	RBM10	c.807G>A	NM_001204468.1	NP_001191397.1:p.(Met269Ile)	NC_000023.10:g.47035934G>A	VUS	1 lab	dfb330a0d5
16:55516929 MMP2 G>A	16	55516929	55516929	G	A	MMP2	c.262G>A	NM_004530.5	NP_004521.1:p.(Asp88Asn)	NC_000016.9:g.55516929G>A	VUS	1 lab	dfb360f06d
X:107453217 COL4A6 A>C	X	107453217	107453217	A	C	COL4A6	c.528T>G	NM_001287758.1	NP_001274687.1:p.(Pro176=)	NC_000023.10:g.107453217A>C	(Likely) benign	1 lab	dfb61dd53b
12:98941472 TMPO A>C	12	98941472	98941472	A	C	TMPO	c.1201A>C	NM_001032283.2	NP_001027454.1:p.(Lys401Gln)	NC_000012.11:g.98941472A>C	VUS	1 lab	dfb75841de
X:83129066 CYLC1 G>A	X	83129066	83129066	G	A	CYLC1	c.1350G>A	NM_021118.2	NP_066941.1:p.(Pro450=)	NC_000023.10:g.83129066G>A	(Likely) benign	1 lab	dfb8d893de
17:29657392 NF1 AG>A	17	29657392	29657394	AG	A	NF1	c.5690del	NM_001042492.3	NP_001035957.1:p.(Gly1897ValfsTer28)	NC_000017.10:g.29657394del	(Likely) pathogenic	1 lab	dfb9620fac
19:51009492 JOSD2 C>T	19	51009492	51009492	C	T	JOSD2	c.505G>A	NM_001270639.1	NP_001257568.1:p.(Glu169Lys)	NC_000019.9:g.51009492C>T	VUS	1 lab	dfbad315b1
X:23019375 DDX53 C>G	X	23019375	23019375	C	G	DDX53	c.1201C>G	NM_182699.3	NP_874358.2:p.(Arg401Gly)	NC_000023.10:g.23019375C>G	VUS	1 lab	dfbb15c4a9
X:11197547 ARHGAP6 A>G	X	11197547	11197547	A	G	ARHGAP6	c.1355T>C	NM_013427.2	NP_038286.2:p.(Ile452Thr)	NC_000023.10:g.11197547A>G	VUS	1 lab	dfbc839014
X:15792479 CA5B C>G	X	15792479	15792479	C	G	CA5B	c.514C>G	NM_007220.3	NP_009151.1:p.(Leu172Val)	NC_000023.10:g.15792479C>G	(Likely) benign	1 lab	dfc22df401
2:179399836 TTN A>T	2	179399836	179399836	A	T	TTN	c.101506T>A	NM_001267550.1	NP_001254479.1:p.(Cys33836Ser)	NC_000002.11:g.179399836A>T	VUS	1 lab	dfc3838990
1:235647631 B3GALNT2 G>T	1	235647631	235647631	G	T	B3GALNT2	c.555+7C>A	NM_152490.4	NP_689703.1:p.?	NC_000001.10:g.235647631G>T	(Likely) benign	1 lab	dfc397611a
1:211654640 RD3 C>T	1	211654640	211654640	C	T	RD3	c.118G>A	NM_183059.2	NP_898882.1:p.(Ala40Thr)	NC_000001.10:g.211654640C>T	VUS	1 lab	dfc48535aa
X:8433801 VCX3B A>G	X	8433801	8433801	A	G	VCX3B	c.118A>G	NM_001001888.3	NP_001001888.3:p.(Lys40Glu)	NC_000023.10:g.8433801A>G	(Likely) benign	1 lab	dfc9d376f0
3:27758756 EOMES G>A	3	27758756	27758756	G	A	EOMES	c.1866C>T	NM_005442.3	NP_005433.2:p.(Pro622=)	NC_000003.11:g.27758756G>A	(Likely) benign	1 lab	dfca9ad95a
6:73843273 KCNQ5 C>T	6	73843273	73843273	C	T	KCNQ5	c.1434C>T	NM_001160133.1	NP_001153605.1:p.(Thr478=)	NC_000006.11:g.73843273C>T	(Likely) benign	1 lab	dfcbcb5d14
15:52611398 MYO5A G>A	15	52611398	52611398	G	A	MYO5A	c.5018C>T	NM_000259.3	NP_000250.3:p.(Ser1673Leu)	NC_000015.9:g.52611398G>A	(Likely) benign	1 lab	dfcc685e82
19:3980824 EEF2 A>G	19	3980824	3980824	A	G	EEF2	c.1150+15T>C	NM_001961.3	NP_001952.1:p.?	NC_000019.9:g.3980824A>G	(Likely) benign	1 lab	dfce94b1a7
19:39051929 RYR1 G>A	19	39051929	39051929	G	A	RYR1	c.12459G>A	NM_000540.2	NP_000531.2:p.(Val4153=)	NC_000019.9:g.39051929G>A	(Likely) benign	1 lab	dfcf470543
19:39516098 FBXO27 C>T	19	39516098	39516098	C	T	FBXO27	c.805G>A	NM_178820.5	NP_849142.1:p.(Ala269Thr)	NC_000019.9:g.39516098C>T	(Likely) benign	1 lab	dfcffa47af
X:112022884 AMOT C>T	X	112022884	112022884	C	T	AMOT	c.2498G>A	NM_001113490.1	NP_001106962.1:p.(Arg833His)	NC_000023.10:g.112022884C>T	VUS	1 lab	dfd13784c1
16:2104295 TSC2 A>T	16	2104295	2104295	A	T	TSC2	c.337-2A>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2104295A>T	(Likely) pathogenic	1 lab	dfd241ca88
14:105175615 INF2 C>A	14	105175615	105175615	C	A	INF2	c.1950-3C>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105175615C>A	(Likely) benign	1 lab	dfd3ccc0b6
1:152276289 FLG G>A	1	152276289	152276289	G	A	FLG	c.11073C>T	NM_002016.1	NP_002007.1:p.(Ser3691=)	NC_000001.10:g.152276289G>A	(Likely) benign	1 lab	dfd4cc759c
X:29935585 IL1RAPL1 C>G	X	29935585	29935585	C	G	IL1RAPL1	c.783C>G	NM_014271.3	NP_055086.1:p.(Asp261Glu)	NC_000023.10:g.29935585C>G	(Likely) benign	1 lab	dfd4fb5bc5
10:102770349 PDZD7 A>C	10	102770349	102770349	A	C	PDZD7	c.2297T>G	NM_001195263.1	NP_001182192.1:p.(Ile766Ser)	NC_000010.10:g.102770349A>C	(Likely) benign	1 lab	dfd5ec74b7
2:16082687 MYCN A>G	2	16082687	16082687	A	G	MYCN	c.501A>G	NM_005378.5	NP_005369.2:p.(Gly167=)	NC_000002.11:g.16082687A>G	(Likely) benign	1 lab	dfd84b8a7b
11:34969154 PDHX G>T	11	34969154	34969154	G	T	PDHX	c.342+1G>T	NM_003477.2	NP_003468.2:p.?	NC_000011.9:g.34969154G>T	VUS	1 lab	dfd8ac6294
12:123465250 ARL6IP4 G>A	12	123465250	123465250	G	A	ARL6IP4	c.499G>A	NM_001002252.2	NP_001002252.2:p.(Glu167Lys)	NC_000012.11:g.123465250G>A	(Likely) benign	1 lab	dfd95ec3c9
16:55844909 CES1 T>C	16	55844909	55844909	T	C	CES1	c.1100A>G	NM_001025195.1	NP_001020366.1:p.(Tyr367Cys)	NC_000016.9:g.55844909T>C	(Likely) benign	1 lab	dfd9c3b42a
17:72297253 DNAI2 G>A	17	72297253	72297253	G	A	DNAI2	c.933G>A	NM_023036.5	NP_075462.3:p.(Lys311=)	NC_000017.10:g.72297253G>A	(Likely) benign	1 lab	dfd9cd1bea
14:96798736 ATG2B A>G	14	96798736	96798736	A	G	ATG2B	c.1374T>C	NM_018036.6	NP_060506.5:p.(Thr458=)	NC_000014.8:g.96798736A>G	(Likely) benign	1 lab	dfdb7930cf
X:153577133 FLNA T>CAG	X	153577133	153577133	T	CAG	FLNA	c.*84delinsCTG	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153577133delinsCAG	(Likely) benign	1 lab	dfdc9690ef
3:45557662 LARS2 C>T	3	45557662	45557662	C	T	LARS2	c.1938C>T	NM_015340.4	NP_056155.1:p.(Asn646=)	NC_000003.11:g.45557662C>T	(Likely) benign	1 lab	dfdcee71f4
13:32936637 BRCA2 ATAT>A	13	32936637	32936641	ATAT	A	BRCA2	c.7806-21_7806-19del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32936639_32936641del	(Likely) benign	1 lab	dfded2fe10
21:47633664 LSS G>A	21	47633664	47633664	G	A	LSS	c.857C>T	NM_001145437.1	NP_001138909.1:p.(Pro286Leu)	NC_000021.8:g.47633664G>A	VUS	1 lab	dfdf2dceed
X:135435505 ADGRG4 A>G	X	135435505	135435505	A	G	ADGRG4	c.6832A>G	NM_153834.3	NP_722576.3:p.(Ile2278Val)	NC_000023.10:g.135435505A>G	(Likely) benign	1 lab	dfe08d7eff
14:19563402 POTEG A>T	14	19563402	19563402	A	T	POTEG	c.918-2A>T	NM_001005356.2	NP_001005356.1:p.?	NC_000014.8:g.19563402A>T	VUS	1 lab	dfe0bece93
20:25371275 ABHD12 G>A	20	25371275	25371275	G	A	ABHD12	c.65C>T	NM_001042472.3	NP_001035937.1:p.(Ser22Phe)	NC_000020.10:g.25371275G>A	(Likely) benign	1 lab	dfe13843f5
16:58054055 USB1 A>T	16	58054055	58054055	A	T	USB1	c.704A>T	NM_024598.3	NP_078874.2:p.(Asp235Val)	NC_000016.9:g.58054055A>T	VUS	1 lab	dfe1c51832
4:187126450 CYP4V2 G>T	4	187126450	187126450	G	T	CYP4V2	c.1084G>T	NM_207352.3	NP_997235.3:p.(Val362Leu)	NC_000004.11:g.187126450G>T	VUS	1 lab	dfe20bf80d
7:107580553 LAMB1 C>A	7	107580553	107580553	C	A	LAMB1	c.3642G>T	NM_002291.2	NP_002282.2:p.(Gly1214=)	NC_000007.13:g.107580553C>A	(Likely) benign	1 lab	dfe215aefa
1:6270457 RNF207 C>G	1	6270457	6270457	C	G	RNF207	c.901C>G	NM_207396.3	NP_997279.2:p.(Leu301Val)	NC_000001.10:g.6270457C>G	VUS	1 lab	dfe243eda5
16:51174644 SALL1 G>GA	16	51174644	51174647	G	GA	SALL1	c.1488dup	NM_002968.2	NP_002959.2:p.(Gln497SerfsTer19)	NC_000016.9:g.51174647dup	(Likely) pathogenic	1 lab	dfe4660015
1:5937230 NPHP4 G>A	1	5937230	5937230	G	A	NPHP4	c.2740C>T	NM_015102.4	NP_055917.1:p.(Arg914Cys)	NC_000001.10:g.5937230G>A	VUS	1 lab	dfe4af98ae
2:179397497 TTN G>A	2	179397497	179397497	G	A	TTN	c.103845C>T	NM_001267550.1	NP_001254479.1:p.(Tyr34615=)	NC_000002.11:g.179397497G>A	(Likely) benign	1 lab	dfe5bc7f06
15:90628225 IDH2 A>G	15	90628225	90628225	A	G	IDH2	c.1178+8T>C	NM_002168.3	NP_002159.2:p.?	NC_000015.9:g.90628225A>G	(Likely) benign	1 lab	dfe5e70e61
17:78092467 GAA G>T	17	78092467	78092467	G	T	GAA	c.2662G>T	NM_000152.3	NP_000143.2:p.(Glu888Ter)	NC_000017.10:g.78092467G>T	(Likely) pathogenic	1 lab	dfe73641a6
2:46986184 SOCS5 T>C	2	46986184	46986184	T	C	SOCS5	c.515T>C	NM_144949.3	NP_659198.1:p.(Val172Ala)	NC_000002.11:g.46986184T>C	(Likely) benign	1 lab	dfe870d9ce
22:32881061 FBXO7 G>A	22	32881061	32881061	G	A	FBXO7	c.652G>A	NM_012179.3	NP_036311.3:p.(Glu218Lys)	NC_000022.10:g.32881061G>A	VUS	1 lab	dfeb47d3b9
1:103379193 COL11A1 C>T	1	103379193	103379193	C	T	COL11A1	c.4068G>A	NM_080629.2	NP_542196.2:p.(Pro1356=)	NC_000001.10:g.103379193C>T	(Likely) benign	1 lab	dfec362f8f
12:113633526 DRC10 G>A	12	113633526	113633526	G	A	DRC10	c.1204C>T	NM_001330452.2	NP_001317381.1:p.(Arg402Trp)	NC_000012.11:g.113633526G>A	(Likely) benign	1 lab	dfee51aea5
11:67290106 CABP2 C>T	11	67290106	67290106	C	T	CABP2	c.124G>A	NM_016366.2	NP_057450.2:p.(Ala42Thr)	NC_000011.9:g.67290106C>T	(Likely) benign	1 lab	dfee9c0268
7:103185710 RELN G>A	7	103185710	103185710	G	A	RELN	c.6384C>T	NM_005045.3	NP_005036.2:p.(Ile2128=)	NC_000007.13:g.103185710G>A	(Likely) benign	1 lab	dff02f40a8
X:38226596 OTC A>G	X	38226596	38226596	A	G	OTC	c.130A>G	NM_000531.5	NP_000522.3:p.(Thr44Ala)	NC_000023.10:g.38226596A>G	VUS	1 lab	dff059a929
3:164730822 SI T>C	3	164730822	164730822	T	C	SI	c.4008A>G	NM_001041.3	NP_001032.2:p.(Pro1336=)	NC_000003.11:g.164730822T>C	(Likely) benign	1 lab	dff128c3fd
19:18197684 IL12RB1 G>A	19	18197684	18197684	G	A	IL12RB1	c.70C>T	NM_001290024.1	NP_001276953.1:p.(Arg24Cys)	NC_000019.9:g.18197684G>A	(Likely) benign	1 lab	dff3521e61
7:1539218 INTS1 G>A	7	1539218	1539218	G	A	INTS1	c.735C>T	NM_001080453.3	NP_001073922.2:p.(His245=)	NC_000007.13:g.1539218G>A	(Likely) benign	1 lab	dff3fa22dd
15:101438371 ALDH1A3 C>T	15	101438371	101438371	C	T	ALDH1A3	c.864C>T	NM_000693.3	NP_000684.2:p.(Ile288=)	NC_000015.9:g.101438371C>T	(Likely) benign	1 lab	dff49def82
14:74983653 LTBP2 A>G	14	74983653	74983653	A	G	LTBP2	c.2789-9T>C	NM_000428.2	NP_000419.1:p.?	NC_000014.8:g.74983653A>G	(Likely) benign	1 lab	dff5d8d91c
11:121061475 TECTA C>T	11	121061475	121061475	C	T	TECTA	c.6428C>T	NM_005422.2	NP_005413.2:p.(Ser2143Leu)	NC_000011.9:g.121061475C>T	(Likely) benign	1 lab	dff5f4ab3d
19:16594825 CALR3 G>A	19	16594825	16594825	G	A	CALR3	c.594C>T	NM_145046.4	NP_659483.2:p.(Tyr198=)	NC_000019.9:g.16594825G>A	(Likely) benign	1 lab	dff5f9d15d
19:852391 ELANE G>T	19	852391	852391	G	T	ELANE	c.63G>T	NM_001972.2	NP_001963.1:p.(Leu21=)	NC_000019.9:g.852391G>T	(Likely) benign	1 lab	dff637fa26
6:31919031 CFB G>A	6	31919031	31919031	G	A	CFB	c.1956+10G>A	NM_001710.5	NP_001701.2:p.?	NC_000006.11:g.31919031G>A	(Likely) benign	1 lab	dff78b2bf5
17:78157858 CARD14 C>T	17	78157858	78157858	C	T	CARD14	c.496C>T	NM_001366385.1	NP_001353314.1:p.(Arg166Cys)	NC_000017.10:g.78157858C>T	VUS	1 lab	dff791683d
1:39927709 MACF1 G>A	1	39927709	39927709	G	A	MACF1	c.15501G>A	NM_012090.5	NP_036222.3:p.(Glu5167=)	NC_000001.10:g.39927709G>A	(Likely) benign	1 lab	dff80be7b1
1:156816335 INSRR C>T	1	156816335	156816335	C	T	INSRR	c.1786G>A	NM_014215.3	NP_055030.1:p.(Val596Ile)	NC_000001.10:g.156816335C>T	(Likely) benign	1 lab	dff8ebbf43
X:66942759 AR G>GA	X	66942759	66942765	G	GA	AR	c.2546dup	NM_000044.4	NP_000035.2:p.(Asn849LysfsTer32)	NC_000023.10:g.66942765dup	(Likely) pathogenic	1 lab	dffb352c6a
X:46521972 SLC9A7 C>T	X	46521972	46521972	C	T	SLC9A7	c.899+1G>A	NM_001257291.2	NP_001244220.1:p.?	NC_000023.10:g.46521972C>T	VUS	1 lab	dffbd05bbc
17:47119715 IGF2BP1 T>G	17	47119715	47119715	T	G	IGF2BP1	c.1053T>G	NM_006546.3	NP_006537.3:p.(Tyr351Ter)	NC_000017.10:g.47119715T>G	VUS	1 lab	dffe12731d
1:6511800 ESPN G>A	1	6511800	6511800	G	A	ESPN	c.2053G>A	NM_031475.3	NP_113663.2:p.(Ala685Thr)	NC_000001.10:g.6511800G>A	(Likely) benign	1 lab	e000285bc8
3:46487945 LTF T>C	3	46487945	46487945	T	C	LTF	c.1304A>G	NM_001321122.1	NP_001308051.1:p.(Asp435Gly)	NC_000003.11:g.46487945T>C	VUS	1 lab	e001b7c2dc
9:4561521 SLC1A1 C>G	9	4561521	4561521	C	G	SLC1A1	c.305C>G	NM_004170.5	NP_004161.4:p.(Thr102Ser)	NC_000009.11:g.4561521C>G	VUS	1 lab	e0032cd9c6
17:29560172 NF1 G>C	17	29560172	29560172	G	C	NF1	c.3649G>C	NM_000267.3	NP_000258.1:p.(Asp1217His)	NC_000017.10:g.29560172G>C	(Likely) pathogenic	1 lab	e00b870574
17:17707106 RAI1 G>A	17	17707106	17707106	G	A	RAI1	c.5602G>A	NM_030665.3	NP_109590.3:p.(Gly1868Arg)	NC_000017.10:g.17707106G>A	(Likely) benign	1 lab	e00dde95de
1:3426449 MEGF6 G>A	1	3426449	3426449	G	A	MEGF6	c.1342C>T	NM_001409.4	NP_001400.3:p.(Arg448Cys)	NC_000001.10:g.3426449G>A	VUS	1 lab	e00e493d70
1:216144042 USH2A G>T	1	216144042	216144042	G	T	USH2A	c.6882C>A	NM_206933.2	NP_996816.2:p.(Tyr2294Ter)	NC_000001.10:g.216144042G>T	(Likely) pathogenic	1 lab	e00f101160
15:62170919 VPS13C G>A	15	62170919	62170919	G	A	VPS13C	c.10029C>T	NM_001018088.2	NP_001018098.1:p.(Ser3343=)	NC_000015.9:g.62170919G>A	(Likely) benign	1 lab	e00f90e0a3
12:49444158 KMT2D G>A	12	49444158	49444158	G	A	KMT2D	c.3213C>T	NM_003482.3	NP_003473.3:p.(His1071=)	NC_000012.11:g.49444158G>A	(Likely) benign	1 lab	e012b91ca6
4:41259649 UCHL1 C>T	4	41259649	41259649	C	T	UCHL1	c.69C>T	NM_004181.4	NP_004172.2:p.(Ala23=)	NC_000004.11:g.41259649C>T	(Likely) benign	1 lab	e0131569cc
1:235652513 B3GALNT2 T>C	1	235652513	235652513	T	C	B3GALNT2	c.321=	NM_152490.4	NP_689703.1:p.(Glu107=)	NC_000001.10:g.235652513T>C	(Likely) benign	1 lab	e016b0227b
6:71011729 COL9A1 T>A	6	71011729	71011729	T	A	COL9A1	c.63A>T	NM_001851.4	NP_001842.3:p.(Ala21=)	NC_000006.11:g.71011729T>A	(Likely) benign	1 lab	e0186ad8c4
20:45355594 SLC2A10 C>T	20	45355594	45355594	C	T	SLC2A10	c.1380C>T	NM_030777.3	NP_110404.1:p.(Leu460=)	NC_000020.10:g.45355594C>T	(Likely) benign	1 lab	e01a88d0f0
1:42925423 PPCS G>C	1	42925423	42925423	G	C	PPCS	c.762G>C	NM_024664.4	NP_078940.2:p.(Val254=)	NC_000001.10:g.42925423G>C	(Likely) benign	1 lab	e01cdf1d33
2:149854973 KIF5C A>G	2	149854973	149854973	A	G	KIF5C	c.2160A>G	NM_004522.3	NP_004513.1:p.(Arg720=)	NC_000002.11:g.149854973A>G	(Likely) benign	1 lab	e01e2cd5e6
1:161790912 ATF6 T>C	1	161790912	161790912	T	C	ATF6	c.1148T>C	NM_007348.3	NP_031374.2:p.(Ile383Thr)	NC_000001.10:g.161790912T>C	VUS	1 lab	e020bafb07
11:32439132 WT1 G>T	11	32439132	32439132	G	T	WT1				NC_000011.9:g.32439132G>T	VUS	1 lab	e023816dd3
19:46281386 DMPK G>A	19	46281386	46281386	G	A	DMPK	c.704C>T	NM_001081563.2	NP_001075032.1:p.(Thr235Met)	NC_000019.9:g.46281386G>A	VUS	1 lab	e0272f6bd3
9:135772999 TSC1 T>TA	9	135772999	135773000	T	TA	TSC1	c.2626-3_2626-2insT	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135772999_135773000insA	(Likely) benign	1 lab	e02812319e
16:2136307 TSC2 G>GT	16	2136307	2136308	G	GT	TSC2	c.4777dup	NM_000548.3	NP_000539.2:p.(Tyr1593LeufsTer10)	NC_000016.9:g.2136308dup	(Likely) pathogenic	1 lab	e029994e87
17:76121249 TMC6 G>A	17	76121249	76121249	G	A	TMC6	c.526C>T	NM_001127198.2	NP_001120670.1:p.(Arg176Cys)	NC_000017.10:g.76121249G>A	VUS	1 lab	e029bd157f
8:145024372 PLEC G>A	8	145024372	145024372	G	A	PLEC	c.503C>T	NM_201380.3	NP_958782.1:p.(Pro168Leu)	NC_000008.10:g.145024372G>A	(Likely) benign	1 lab	e02d0749c4
11:76796075 CAPN5 C>T	11	76796075	76796075	C	T	CAPN5	c.143C>T	NM_004055.4	NP_004046.2:p.(Ala48Val)	NC_000011.9:g.76796075C>T	VUS	1 lab	e02dcadbcd
9:14845994 FREM1 C>T	9	14845994	14845994	C	T	FREM1	c.1357G>A	NM_144966.5	NP_659403.4:p.(Val453Ile)	NC_000009.11:g.14845994C>T	VUS	1 lab	e02ef20ea4
10:134598798 NKX6-2 C>T	10	134598798	134598798	C	T	NKX6-2	c.565G>A	NM_177400.3	NP_796374.2:p.(Glu189Lys)	NC_000010.10:g.134598798C>T	VUS	1 lab	e0304feb9e
20:62319392 RTEL1 G>A	20	62319392	62319392	G	A	RTEL1	c.1584G>A	NM_001283009.1	NP_001269938.1:p.(Ala528=)	NC_000020.10:g.62319392G>A	(Likely) benign	1 lab	e030f38af0
2:131099680 VMA22 G>A	2	131099680	131099680	G	A	VMA22	c.19C>T	NM_032357.4	NP_115733.2:p.(Arg7Ter)	NC_000002.11:g.131099680G>A	(Likely) pathogenic	1 lab	e030fccdef
16:47623015 PHKB T>G	16	47623015	47623015	T	G	PHKB	c.1047+2T>G	NM_001031835.2	NP_001027005.1:p.?	NC_000016.9:g.47623015T>G	(Likely) pathogenic	1 lab	e0318e9010
3:10188311 VHL A>C	3	10188311	10188311	A	C	VHL	c.454A>C	NM_000551.3	NP_000542.1:p.(Thr152Pro)	NC_000003.11:g.10188311A>C	(Likely) pathogenic	1 lab	e0320f064c
6:129712638 LAMA2 G>C	6	129712638	129712638	G	C	LAMA2	c.5074G>C	NM_000426.3	NP_000417.2:p.(Val1692Leu)	NC_000006.11:g.129712638G>C	(Likely) benign	1 lab	e03270f8af
13:25479676 CPAP G>A	13	25479676	25479676	G	A	CPAP	c.2500C>T	NM_018451.4	NP_060921.3:p.(Leu834=)	NC_000013.10:g.25479676G>A	VUS	1 lab	e03280ca80
15:42166512 SPTBN5 T>C	15	42166512	42166512	T	C	SPTBN5	c.4667A>G	NM_016642.4	NP_057726.4:p.(Gln1556Arg)	NC_000015.9:g.42166512T>C	(Likely) benign	1 lab	e033706fdc
5:129037113 ADAMTS19 G>T	5	129037113	129037113	G	T	ADAMTS19	c.2987G>T	NM_133638.4	NP_598377.4:p.(Arg996Leu)	NC_000005.9:g.129037113G>T	VUS	1 lab	e0345cd7b1
1:152770502 LCE1D C>T	1	152770502	152770502	C	T	LCE1D	c.232C>T	NM_178352.2	NP_848129.1:p.(Arg78Cys)	NC_000001.10:g.152770502C>T	VUS	1 lab	e0354a0578
10:71332587 NEUROG3 A>C	10	71332587	71332587	A	C	NEUROG3	c.213T>G	NM_020999.3	NP_066279.2:p.(Pro71=)	NC_000010.10:g.71332587A>C	(Likely) benign	1 lab	e03852a1b1
9:135139746 SETX G>C	9	135139746	135139746	G	C	SETX	c.7914C>G	NM_015046.5	NP_055861.3:p.(Phe2638Leu)	NC_000009.11:g.135139746G>C	(Likely) benign	1 lab	e03aba0b29
15:22743495 GOLGA6L1 A>C	15	22743495	22743495	A	C	GOLGA6L1	c.1880A>C	NM_001001413.3	NP_001001413.3:p.(Glu627Ala)	NC_000015.9:g.22743495A>C	(Likely) benign	1 lab	e03ac0a025
21:46925862 COL18A1 C>T	21	46925862	46925862	C	T	COL18A1	c.4434C>T	NM_130444.3	NP_569711.2:p.(Asn1478=)	NC_000021.8:g.46925862C>T	(Likely) benign	1 lab	e03c49fa15
3:15686448 BTD T>TA	3	15686448	15686453	T	TA	BTD	c.1090dup	NM_000060.4	NP_000051.1:p.(Ile364AsnfsTer9)	NC_000003.11:g.15686453dup	(Likely) pathogenic	1 lab	e03c75cc52
12:126138566 TMEM132B C>A	12	126138566	126138566	C	A	TMEM132B	c.2562C>A	NM_001366854.1	NP_001353783.1:p.(Thr854=)	NC_000012.11:g.126138566C>A	(Likely) benign	1 lab	e03d32224b
16:21968760 UQCRC2 T>G	16	21968760	21968760	T	G	UQCRC2	c.140T>G	NM_003366.3	NP_003357.2:p.(Leu47Trp)	NC_000016.9:g.21968760T>G	VUS	1 lab	e03dc60e39
5:176638467 NSD1 C>T	5	176638467	176638467	C	T	NSD1	c.3067C>T	NM_022455.4	NP_071900.2:p.(Arg1023Ter)	NC_000005.9:g.176638467C>T	(Likely) pathogenic	1 lab	e03dd05b44
6:106740934 ATG5 G>T	6	106740934	106740934	G	T	ATG5	c.284C>A	NM_001286108.1	NP_001273037.1:p.(Ala95Asp)	NC_000006.11:g.106740934G>T	(Likely) benign	1 lab	e03f2d0b6e
20:400293 RBCK1 A>G	20	400293	400293	A	G	RBCK1	c.548A>G	NM_006462.5	NP_006453.1:p.(Gln183Arg)	NC_000020.10:g.400293A>G	(Likely) benign	1 lab	e03f7292ab
15:23892437 MAGEL2 G>A	15	23892437	23892437	G	A	MAGEL2	c.453C>T	NM_019066.4	NP_061939.3:p.(His151=)	NC_000015.9:g.23892437G>A	(Likely) benign	1 lab	e03fbb6a76
10:51769697 AGAP6 CCTG>C	10	51769697	51769706	CCTG	C	AGAP6	c.1819_1821del	NM_001077665.3	NP_001071133.2:p.(Leu607del)	NC_000010.10:g.51769704_51769706del	VUS	1 lab	e03fe2a568
16:2122822 TSC2 A>G	16	2122822	2122822	A	G	TSC2	c.2221-28A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122822A>G	(Likely) benign	1 lab	e0433fe69f
19:42853802 MEGF8 A>G	19	42853802	42853802	A	G	MEGF8	c.2450A>G	NM_001271938.2	NP_001258867.1:p.(His817Arg)	NC_000019.9:g.42853802A>G	(Likely) benign	1 lab	e0449379ac
8:42173742 IKBKB G>A	8	42173742	42173742	G	A	IKBKB	c.638G>A	NM_001242778.1	NP_001229707.1:p.(Arg213Gln)	NC_000008.10:g.42173742G>A	VUS	1 lab	e044938f4b
17:29587545 NF1 C>T	17	29587545	29587545	C	T	NF1	c.4514+12C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29587545C>T	(Likely) benign	1 lab	e045944f3e
8:43013825 HGSNAT C>T	8	43013825	43013825	C	T	HGSNAT	c.342C>T	NM_152419.2	NP_689632.2:p.(Asn114=)	NC_000008.10:g.43013825C>T	(Likely) benign	1 lab	e0468aceed
X:9862766 SHROOM2 C>G	X	9862766	9862766	C	G	SHROOM2	c.818C>G	NM_001649.3	NP_001640.1:p.(Pro273Arg)	NC_000023.10:g.9862766C>G	VUS	1 lab	e0479f3356
X:47104816 USP11 C>T	X	47104816	47104816	C	T	USP11	c.2334C>T	NM_004651.3	NP_004642.2:p.(Pro778=)	NC_000023.10:g.47104816C>T	(Likely) benign	1 lab	e04a290908
8:126059517 WASHC5 G>A	8	126059517	126059517	G	A	WASHC5	c.2436C>T	NM_014846.3	NP_055661.3:p.(Thr812=)	NC_000008.10:g.126059517G>A	(Likely) benign	1 lab	e04b3b15eb
22:25599748 CRYBB3 C>T	22	25599748	25599748	C	T	CRYBB3	c.213C>T	NM_004076.4	NP_004067.1:p.(Ser71=)	NC_000022.10:g.25599748C>T	(Likely) benign	1 lab	e04d5e904f
2:234247313 SAG T>C	2	234247313	234247313	T	C	SAG	c.945-9T>C	NM_000541.4	NP_000532.2:p.?	NC_000002.11:g.234247313T>C	(Likely) benign	1 lab	e04e0fdb63
10:81925960 ANXA11 G>C	10	81925960	81925960	G	C	ANXA11	c.745-7C>G	NM_145868.2	NP_665875.1:p.?	NC_000010.10:g.81925960G>C	VUS	1 lab	e04f1095e8
5:36629649 SLC1A3 G>A	5	36629649	36629649	G	A	SLC1A3	c.279G>A	NM_004172.4	NP_004163.3:p.(Gln93=)	NC_000005.9:g.36629649G>A	(Likely) benign	1 lab	e05089f281
11:118896449 SLC37A4 G>C	11	118896449	118896449	G	C	SLC37A4	c.1003C>G	NM_001164278.2	NP_001157750.1:p.(Leu335Val)	NC_000011.9:g.118896449G>C	VUS	1 lab	e050a71c0e
5:140502892 PCDHB4 G>C	5	140502892	140502892	G	C	PCDHB4	c.1312G>C	NM_018938.3	NP_061761.1:p.(Val438Leu)	NC_000005.9:g.140502892G>C	VUS	1 lab	e050e2d5e4
19:41066171 SPTBN4 A>T	19	41066171	41066171	A	T	SPTBN4	c.5777A>T	NM_020971.2	NP_066022.2:p.(Glu1926Val)	NC_000019.9:g.41066171A>T	VUS	1 lab	e050f46dca
17:74469410 RHBDF2 C>T	17	74469410	74469410	C	T	RHBDF2	c.1821-1G>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74469410C>T	(Likely) pathogenic	1 lab	e0511f8dae
9:135204230 SETX C>G	9	135204230	135204230	C	G	SETX	c.2755G>C	NM_015046.5	NP_055861.3:p.(Val919Leu)	NC_000009.11:g.135204230C>G	(Likely) benign	1 lab	e052f193f1
1:74835186 TNNI3K C>T	1	74835186	74835186	C	T	TNNI3K	c.1584C>T	NM_015978.2	NP_057062.1:p.(Cys528=)	NC_000001.10:g.74835186C>T	(Likely) benign	1 lab	e05329318c
15:51289846 AP4E1 A>G	15	51289846	51289846	A	G	AP4E1	c.2445A>G	NM_001252127.1	NP_001239056.1:p.(Gln815=)	NC_000015.9:g.51289846A>G	(Likely) benign	1 lab	e053b57cbe
10:27403528 YME1L1 A>G	10	27403528	27403528	A	G	YME1L1	c.2100T>C	NM_139312.2	NP_647473.1:p.(Val700=)	NC_000010.10:g.27403528A>G	(Likely) benign	1 lab	e054bea798
17:78078643 GAA C>A	17	78078643	78078643	C	A	GAA	c.258C>A	NM_000152.3	NP_000143.2:p.(Pro86=)	NC_000017.10:g.78078643C>A	(Likely) benign	1 lab	e05506ab78
1:216424346 USH2A T>A	1	216424346	216424346	T	A	USH2A	c.2066A>T	NM_206933.2	NP_996816.2:p.(Asp689Val)	NC_000001.10:g.216424346T>A	VUS	1 lab	e056003722
1:2235389 SKI G>A	1	2235389	2235389	G	A	SKI	c.1322G>A	NM_003036.3	NP_003027.1:p.(Arg441Gln)	NC_000001.10:g.2235389G>A	VUS	1 lab	e05795a2de
14:51226933 NIN C>T	14	51226933	51226933	C	T	NIN	c.2041G>A	NM_020921.3	NP_065972.3:p.(Gly681Arg)	NC_000014.8:g.51226933C>T	VUS	1 lab	e058a4084f
2:211179681 MYL1 G>A	2	211179681	211179681	G	A	MYL1	c.86C>T	NM_079420.3	NP_524144.1:p.(Ala29Val)	NC_000002.11:g.211179681G>A	VUS	1 lab	e059d05386
21:38865384 DYRK1A C>T	21	38865384	38865384	C	T	DYRK1A	c.990C>T	NM_130436.2	NP_569120.1:p.(Asp330=)	NC_000021.8:g.38865384C>T	(Likely) benign	1 lab	e05f61a128
7:43827595 BLVRA G>A	7	43827595	43827595	G	A	BLVRA	c.105G>A	NM_001253823.1	NP_001240752.1:p.(Ala35=)	NC_000007.13:g.43827595G>A	(Likely) benign	1 lab	e0606d4633
4:52895097 SGCB A>G	4	52895097	52895097	A	G	SGCB	c.430-10T>C	NM_000232.4	NP_000223.1:p.?	NC_000004.11:g.52895097A>G	(Likely) benign	1 lab	e061f49517
2:50149352 NRXN1 T>C	2	50149352	50149352	T	C	NRXN1	c.4374A>G	NM_001135659.2	NP_001129131.1:p.(Pro1458=)	NC_000002.11:g.50149352T>C	(Likely) benign	1 lab	e062053bc7
17:48674272 CACNA1G G>A	17	48674272	48674272	G	A	CACNA1G	c.3246G>A	NM_018896.4	NP_061496.2:p.(Glu1082=)	NC_000017.10:g.48674272G>A	(Likely) benign	1 lab	e062710d78
16:58035491 USB1 G>T	16	58035491	58035491	G	T	USB1	c.98+6G>T	NM_001204911.1	NP_001191840.1:p.?	NC_000016.9:g.58035491G>T	(Likely) benign	1 lab	e0629a28e0
1:32503443 KHDRBS1 G>A	1	32503443	32503443	G	A	KHDRBS1	c.796G>A	NM_001271878.1	NP_001258807.1:p.(Gly266Ser)	NC_000001.10:g.32503443G>A	VUS	1 lab	e062a24f51
12:81007513 MISSING T>C	12	81007513	81007513	T	C	MISSING				NC_000012.11:g.81007513T>C	(Likely) benign	1 lab	e0668f78ab
16:81971511 PLCG2 A>T	16	81971511	81971511	A	T	PLCG2	c.3198+3A>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81971511A>T	VUS	1 lab	e066914923
2:160811736 PLA2R1 T>C	2	160811736	160811736	T	C	PLA2R1	c.3275A>G	NM_007366.5	NP_031392.3:p.(Tyr1092Cys)	NC_000002.11:g.160811736T>C	VUS	1 lab	e067953864
12:13716071 GRIN2B G>A	12	13716071	13716071	G	A	GRIN2B	c.4101C>T	NM_000834.4	NP_000825.2:p.(Pro1367=)	NC_000012.11:g.13716071G>A	(Likely) benign	1 lab	e067f76740
12:14829843 GUCY2C G>A	12	14829843	14829843	G	A	GUCY2C	c.893C>T	NM_004963.3	NP_004954.2:p.(Thr298Met)	NC_000012.11:g.14829843G>A	VUS	1 lab	e0684fc115
2:238449577 MLPH G>A	2	238449577	238449577	G	A	MLPH	c.1423G>A	NM_024101.5	NP_077006.1:p.(Glu475Lys)	NC_000002.11:g.238449577G>A	VUS	1 lab	e069e26814
19:14584811 PTGER1 C>G	19	14584811	14584811	C	G	PTGER1	c.322G>C	NM_000955.3	NP_000946.2:p.(Gly108Arg)	NC_000019.9:g.14584811C>G	VUS	1 lab	e06bc5a98e
22:50436708 IL17REL G>A	22	50436708	50436708	G	A	IL17REL	c.632C>T	NM_001001694.2	NP_001001694.2:p.(Thr211Met)	NC_000022.10:g.50436708G>A	(Likely) benign	1 lab	e06d45df06
15:85384004 ALPK3 C>A	15	85384004	85384004	C	A	ALPK3	c.2100C>A	NM_020778.4	NP_065829.3:p.(Pro700=)	NC_000015.9:g.85384004C>A	(Likely) benign	1 lab	e06d8db722
2:232156083 ARMC9 A>G	2	232156083	232156083	A	G	ARMC9	c.1644A>G	NM_001291656.1	NP_001278585.1:p.(Leu548=)	NC_000002.11:g.232156083A>G	(Likely) benign	1 lab	e06e14588d
9:95019030 IARS1 T>C	9	95019030	95019030	T	C	IARS1	c.2069A>G	NM_013417.3	NP_038203.2:p.(Asn690Ser)	NC_000009.11:g.95019030T>C	VUS	1 lab	e07007550e
12:104126811 STAB2 G>A	12	104126811	104126811	G	A	STAB2	c.5311G>A	NM_017564.10	NP_060034.9:p.(Asp1771Asn)	NC_000012.11:g.104126811G>A	VUS	1 lab	e07106ba35
2:88082732 RGPD2 T>C	2	88082732	88082732	T	C	RGPD2	c.3811A>G	NM_001078170.2	NP_001071638.2:p.(Arg1271Gly)	NC_000002.11:g.88082732T>C	VUS	1 lab	e0725c76a8
15:51980457 SCG3 A>G	15	51980457	51980457	A	G	SCG3	c.398A>G	NM_013243.3	NP_037375.2:p.(Asp133Gly)	NC_000015.9:g.51980457A>G	VUS	1 lab	e07f1f8031
X:133620537 HPRT1 G>C	X	133620537	133620537	G	C	HPRT1	c.361G>C	NM_000194.2	NP_000185.1:p.(Asp121His)	NC_000023.10:g.133620537G>C	VUS	1 lab	e074612525
9:129154407 MVB12B G>A	9	129154407	129154407	G	A	MVB12B	c.472G>A	NM_033446.2	NP_258257.1:p.(Ala158Thr)	NC_000009.11:g.129154407G>A	(Likely) benign	1 lab	e074652897
2:179659200 TTN C>T	2	179659200	179659200	C	T	TTN	c.1324G>A	NM_001267550.1	NP_001254479.1:p.(Val442Met)	NC_000002.11:g.179659200C>T	VUS	1 lab	e074c61831
9:139888077 PAXX G>A	9	139888077	139888077	G	A	PAXX	c.536G>A	NM_183241.3	NP_899064.1:p.(Arg179Gln)	NC_000009.11:g.139888077G>A	VUS	1 lab	e074ce0cf0
9:6550885 GLDC G>A	9	6550885	6550885	G	A	GLDC	c.2487C>T	NM_000170.2	NP_000161.2:p.(Ala829=)	NC_000009.11:g.6550885G>A	(Likely) benign	1 lab	e076ba17a0
11:62383675 B3GAT3 T>C	11	62383675	62383675	T	C	B3GAT3	c.909+303A>G	NM_012200.3	NP_036332.2:p.?	NC_000011.9:g.62383675T>C	(Likely) benign	1 lab	e0776e1f7a
7:117292956 CFTR G>T	7	117292956	117292956	G	T	CFTR	c.3934G>T	NM_000492.3	NP_000483.3:p.(Asp1312Tyr)	NC_000007.13:g.117292956G>T	VUS	1 lab	e077d37f7a
8:30958461 WRN C>G	8	30958461	30958461	C	G	WRN	c.2078C>G	NM_000553.4	NP_000544.2:p.(Ala693Gly)	NC_000008.10:g.30958461C>G	(Likely) benign	1 lab	e078d38575
9:2110308 SMARCA2 G>C	9	2110308	2110308	G	C	SMARCA2	c.3347G>C	NM_003070.4	NP_003061.3:p.(Gly1116Ala)	NC_000009.11:g.2110308G>C	VUS	1 lab	e07927822d
6:110036326 FIG4 G>A	6	110036326	110036326	G	A	FIG4	c.112G>A	NM_014845.5	NP_055660.1:p.(Val38Ile)	NC_000006.11:g.110036326G>A	VUS	1 lab	e0793456ed
X:77243831 ATP7A G>A	X	77243831	77243831	G	A	ATP7A	c.214G>A	NM_000052.6	NP_000043.4:p.(Asp72Asn)	NC_000023.10:g.77243831G>A	VUS	1 lab	e079b9c522
8:87666257 CNGB3 T>A	8	87666257	87666257	T	A	CNGB3	c.886A>T	NM_019098.4	NP_061971.3:p.(Thr296Ser)	NC_000008.10:g.87666257T>A	(Likely) pathogenic	1 lab	e07b66840f
1:152287808 FLG C>T	1	152287808	152287808	C	T	FLG	c.125G>A	NM_002016.1	NP_002007.1:p.(Arg42Gln)	NC_000001.10:g.152287808C>T	VUS	1 lab	e07ca294ee
3:12942802 IQSEC1 C>T	3	12942802	12942802	C	T	IQSEC1	c.3025G>A	NM_001134382.3	NP_001127854.1:p.(Ala1009Thr)	NC_000003.11:g.12942802C>T	VUS	1 lab	e07fad136f
6:10530006 GCNT2 T>C	6	10530006	10530006	T	C	GCNT2	c.862T>C	NM_145649.4	NP_663624.1:p.(Ser288Pro)	NC_000006.11:g.10530006T>C	(Likely) benign	1 lab	e07fdf2c4e
1:201028383 CACNA1S G>A	1	201028383	201028383	G	A	CACNA1S	c.3459C>T	NM_000069.2	NP_000060.2:p.(Leu1153=)	NC_000001.10:g.201028383G>A	(Likely) benign	1 lab	e080f00629
X:142716750 SLITRK4 G>A	X	142716750	142716750	G	A	SLITRK4	c.2175C>T	NM_001184749.3	NP_001171678.1:p.(Ala725=)	NC_000023.10:g.142716750G>A	(Likely) benign	1 lab	e08206c7e3
11:93530766 MED17 G>A	11	93530766	93530766	G	A	MED17	c.1209G>A	NM_004268.4	NP_004259.3:p.(Lys403=)	NC_000011.9:g.93530766G>A	(Likely) benign	1 lab	e082629d8a
16:2121820 TSC2 G>GC	16	2121820	2121825	G	GC	TSC2	c.1987dup	NM_000548.3	NP_000539.2:p.(Leu663ProfsTer40)	NC_000016.9:g.2121825dup	(Likely) pathogenic	1 lab	e087127e25
3:66432749 LRIG1 G>A	3	66432749	66432749	G	A	LRIG1	c.2565C>T	NM_015541.2	NP_056356.2:p.(Thr855=)	NC_000003.11:g.66432749G>A	(Likely) benign	1 lab	e087bd9703
7:47851581 PKD1L1 A>G	7	47851581	47851581	A	G	PKD1L1	c.7415T>C	NM_138295.4	NP_612152.1:p.(Val2472Ala)	NC_000007.13:g.47851581A>G	VUS	1 lab	e0886a9dee
2:99008386 CNGA3 C>T	2	99008386	99008386	C	T	CNGA3	c.626C>T	NM_001298.2	NP_001289.1:p.(Ser209Leu)	NC_000002.11:g.99008386C>T	VUS	1 lab	e088a436b6
15:25616532 UBE3A G>A	15	25616532	25616532	G	A	UBE3A	c.798C>T	NM_000462.5	NP_000453.2:p.(Asn266=)	NC_000015.9:g.25616532G>A	(Likely) benign	1 lab	e088add966
7:143929773 OR2A42 T>G	7	143929773	143929773	T	G	OR2A42	c.164A>C	NM_001001802.2	NP_001001802.2:p.(His55Pro)	NC_000007.13:g.143929773T>G	VUS	1 lab	e089132a6d
9:420548 DOCK8 C>G	9	420548	420548	C	G	DOCK8	c.3988C>G	NM_203447.3	NP_982272.2:p.(Leu1330Val)	NC_000009.11:g.420548C>G	(Likely) benign	1 lab	e0897f0be9
10:28899713 WAC G>A	10	28899713	28899713	G	A	WAC	c.1116G>A	NM_100264.2	NP_567822.1:p.(Thr372=)	NC_000010.10:g.28899713G>A	(Likely) benign	1 lab	e08a2cfb82
21:34058049 SYNJ1 C>T	21	34058049	34058049	C	T	SYNJ1	c.1235+9G>A	NM_203446.2	NP_982271.2:p.?	NC_000021.8:g.34058049C>T	(Likely) benign	1 lab	e08b0670b3
22:21224658 SNAP29 A>G	22	21224658	21224658	A	G	SNAP29	c.271A>G	NM_004782.3	NP_004773.1:p.(Thr91Ala)	NC_000022.10:g.21224658A>G	VUS	1 lab	e090b414a5
1:100696380 DBT A>T	1	100696380	100696380	A	T	DBT	c.342T>A	NM_001918.3	NP_001909.3:p.(Tyr114Ter)	NC_000001.10:g.100696380A>T	(Likely) pathogenic	1 lab	e09184f36f
14:65419244 RAB15 A>G	14	65419244	65419244	A	G	RAB15	c.32T>C	NM_001330182.1	NP_001317111.1:p.(Val11Ala)	NC_000014.8:g.65419244A>G	VUS	1 lab	e091c7f738
14:105174197 INF2 G>A	14	105174197	105174197	G	A	INF2	c.1593G>A	NM_022489.3	NP_071934.3:p.(Ala531=)	NC_000014.8:g.105174197G>A	(Likely) benign	1 lab	e093365bb5
X:48930139 PRAF2 G>A	X	48930139	48930139	G	A	PRAF2	c.350C>T	NM_007213.3	NP_009144.1:p.(Ala117Val)	NC_000023.10:g.48930139G>A	(Likely) benign	1 lab	e094877433
3:147120535 ZIC4 C>T	3	147120535	147120535	C	T	ZIC4	c.50G>A	NM_032153.5	NP_115529.2:p.(Arg17Gln)	NC_000003.11:g.147120535C>T	(Likely) benign	1 lab	e095febc9f
17:4847913 RNF167 G>A	17	4847913	4847913	G	A	RNF167	c.731G>A	NM_015528.2	NP_056343.1:p.(Arg244Gln)	NC_000017.10:g.4847913G>A	VUS	1 lab	e0963d6f33
11:1782705 CTSD A>G	11	1782705	1782705	A	G	CTSD	c.69-7T>C	NM_001909.4	NP_001900.1:p.?	NC_000011.9:g.1782705A>G	(Likely) benign	1 lab	e0985ed4e0
9:13217273 MPDZ T>C	9	13217273	13217273	T	C	MPDZ	c.1107A>G	NM_003829.4	NP_003820.2:p.(Lys369=)	NC_000009.11:g.13217273T>C	(Likely) benign	1 lab	e098c74fce
3:195513145 MUC4 A>G	3	195513145	195513145	A	G	MUC4	c.5306T>C	NM_018406.6	NP_060876.5:p.(Val1769Ala)	NC_000003.11:g.195513145A>G	(Likely) benign	1 lab	e099f50b21
5:61659025 KIF2A G>A	5	61659025	61659025	G	A	KIF2A	c.1140G>A	NM_001098511.2	NP_001091981.1:p.(Arg380=)	NC_000005.9:g.61659025G>A	(Likely) benign	1 lab	e09c58160e
17:29661971 NF1 CA>C	17	29661971	29661973	CA	C	NF1	c.5930del	NM_001042492.3	NP_001035957.1:p.(Lys1977SerfsTer2)	NC_000017.10:g.29661973del	(Likely) pathogenic	1 lab	e09d8a1532
X:153453516 OPN1MW C>G	X	153453516	153453516	C	G	OPN1MW	c.370C>G	NM_000513.2	NP_000504.1:p.(Pro124Ala)	NC_000023.10:g.153453516C>G	VUS	1 lab	e09ef0390f
X:109937459 CHRDL1 A>G	X	109937459	109937459	A	G	CHRDL1	c.710T>C	NM_001143981.1	NP_001137453.1:p.(Met237Thr)	NC_000023.10:g.109937459A>G	(Likely) benign	1 lab	e09fb6aca6
15:51766734 DMXL2 T>C	15	51766734	51766734	T	C	DMXL2	c.7020A>G	NM_001174116.1	NP_001167587.1:p.(Lys2340=)	NC_000015.9:g.51766734T>C	(Likely) benign	1 lab	e0a0a8ca98
19:2120952 AP3D1 C>T	19	2120952	2120952	C	T	AP3D1	c.1390G>A	NM_001261826.3	NP_001248755.1:p.(Asp464Asn)	NC_000019.9:g.2120952C>T	VUS	1 lab	e0a14702aa
11:17531094 USH1C G>A	11	17531094	17531094	G	A	USH1C	c.1822C>T	NM_153676.3	NP_710142.1:p.(Pro608Ser)	NC_000011.9:g.17531094G>A	(Likely) benign	1 lab	e0a217a206
10:104449702 ARL3 T>C	10	104449702	104449702	T	C	ARL3	c.265-2A>G	NM_004311.4	NP_004302.1:p.?	NC_000010.10:g.104449702T>C	(Likely) pathogenic	1 lab	e0a792e259
20:50408481 SALL4 C>T	20	50408481	50408481	C	T	SALL4	c.541G>A	NM_001318031.1	NP_001304960.1:p.(Val181Met)	NC_000020.10:g.50408481C>T	(Likely) benign	1 lab	e0a8eba25d
2:179613386 TTN T>G	2	179613386	179613386	T	G	TTN	c.13741A>C	NM_133379.4	NP_596870.2:p.(Thr4581Pro)	NC_000002.11:g.179613386T>G	(Likely) benign	1 lab	e0ab18bcfa
20:1161967 TMEM74B C>T	20	1161967	1161967	C	T	TMEM74B	c.296G>A	NM_018354.2	NP_060824.1:p.(Arg99Gln)	NC_000020.10:g.1161967C>T	VUS	1 lab	e0ab786cca
7:142457382 PRSS1 A>T	7	142457382	142457382	A	T	PRSS1	c.40+7A>T	NM_002769.4	NP_002760.1:p.?	NC_000007.13:g.142457382A>T	(Likely) benign	1 lab	e0ac3e5b93
15:23892429 MAGEL2 G>T	15	23892429	23892429	G	T	MAGEL2	c.461C>A	NM_019066.4	NP_061939.3:p.(Pro154His)	NC_000015.9:g.23892429G>T	(Likely) benign	1 lab	e0ad6ef887
18:77513722 CTDP1 G>A	18	77513722	77513722	G	A	CTDP1	c.2818G>A	NM_004715.4	NP_004706.3:p.(Glu940Lys)	NC_000018.9:g.77513722G>A	VUS	1 lab	e0adf0ed3d
12:81777862 PPFIA2 T>G	12	81777862	81777862	T	G	PPFIA2	c.924A>C	NM_001220473.2	NP_001207402.1:p.(Ala308=)	NC_000012.11:g.81777862T>G	(Likely) benign	1 lab	e0af1c7513
3:15683597 BTD G>A	3	15683597	15683597	G	A	BTD	c.492G>A	NM_001281726.1	NP_001268655.1:p.(Arg164=)	NC_000003.11:g.15683597G>A	(Likely) benign	1 lab	e0b0bd1ab3
5:98236974 CHD1 T>C	5	98236974	98236974	T	C	CHD1	c.503A>G	NM_001270.2	NP_001261.2:p.(Glu168Gly)	NC_000005.9:g.98236974T>C	VUS	1 lab	e0b0dad61e
9:139915340 ABCA2 G>A	9	139915340	139915340	G	A	ABCA2	c.1161C>T	NM_212533.2	NP_997698.1:p.(Pro387=)	NC_000009.11:g.139915340G>A	(Likely) benign	1 lab	e0b13d386e
14:88401137 GALC A>G	14	88401137	88401137	A	G	GALC	c.1997T>C	NM_000153.3	NP_000144.2:p.(Ile666Thr)	NC_000014.8:g.88401137A>G	(Likely) pathogenic	1 lab	e0b2fd3687
1:57395093 C8B G>A	1	57395093	57395093	G	A	C8B	c.1604C>T	NM_001278543.1	NP_001265472.1:p.(Thr535Ile)	NC_000001.10:g.57395093G>A	VUS	1 lab	e0b3dd3f0b
X:153582741 FLNA C>T	X	153582741	153582741	C	T	FLNA	c.5416+8G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153582741C>T	(Likely) benign	1 lab	e0b49979eb
X:153691778 PLXNA3 C>G	X	153691778	153691778	C	G	PLXNA3	c.1362C>G	NM_017514.4	NP_059984.3:p.(Val454=)	NC_000023.10:g.153691778C>G	(Likely) benign	1 lab	e0b4b4227d
20:42788305 JPH2 C>T	20	42788305	42788305	C	T	JPH2	c.1122G>A	NM_020433.4	NP_065166.2:p.(Gln374=)	NC_000020.10:g.42788305C>T	(Likely) benign	1 lab	e0b66ab46d
1:216052344 USH2A C>T	1	216052344	216052344	C	T	USH2A	c.8320G>A	NM_206933.2	NP_996816.2:p.(Ala2774Thr)	NC_000001.10:g.216052344C>T	(Likely) benign	1 lab	e0b7652988
12:49425429 KMT2D C>T	12	49425429	49425429	C	T	KMT2D	c.13059G>A	NM_003482.3	NP_003473.3:p.(Pro4353=)	NC_000012.11:g.49425429C>T	(Likely) benign	1 lab	e0b8d93e6b
16:2134965 TSC2 C>T	16	2134965	2134965	C	T	TSC2	c.4507C>T	NM_000548.3	NP_000539.2:p.(Gln1503Ter)	NC_000016.9:g.2134965C>T	(Likely) pathogenic	1 lab	e0b8fe9999
7:128040598 IMPDH1 G>A	7	128040598	128040598	G	A	IMPDH1	c.580-5C>T	NM_000883.3	NP_000874.2:p.?	NC_000007.13:g.128040598G>A	(Likely) benign	1 lab	e0b98c9e03
1:150526888 ADAMTSL4 C>T	1	150526888	150526888	C	T	ADAMTSL4	c.1179C>T	NM_001288608.1	NP_001275537.1:p.(Ala393=)	NC_000001.10:g.150526888C>T	(Likely) benign	1 lab	e0ba669224
17:62133117 ERN1 G>A	17	62133117	62133117	G	A	ERN1	c.1590C>T	NM_001433.5	NP_001424.3:p.(Pro530=)	NC_000017.10:g.62133117G>A	(Likely) benign	1 lab	e0bb207a93
2:170042047 LRP2 C>T	2	170042047	170042047	C	T	LRP2	c.9811G>A	NM_004525.3	NP_004516.2:p.(Ala3271Thr)	NC_000002.11:g.170042047C>T	(Likely) benign	1 lab	e0bb8be219
4:79447780 FRAS1 C>T	4	79447780	79447780	C	T	FRAS1	c.10894C>T	NM_025074.7	NP_079350.5:p.(Pro3632Ser)	NC_000004.11:g.79447780C>T	(Likely) benign	1 lab	e0bcf83dec
17:33510565 UNC45B A>T	17	33510565	33510565	A	T	UNC45B	c.2493A>T	NM_001033576.1	NP_001028748.1:p.(Ala831=)	NC_000017.10:g.33510565A>T	(Likely) benign	1 lab	e0bd4cd118
13:103514425 ERCC5 C>T	13	103514425	103514425	C	T	ERCC5	c.926C>T	NM_000123.3	NP_000114.2:p.(Pro309Leu)	NC_000013.10:g.103514425C>T	VUS	1 lab	e0be474f3e
16:2129421 TSC2 G>C	16	2129421	2129421	G	C	TSC2	c.3276G>C	NM_001114382.2	NP_001107854.1:p.(Pro1092=)	NC_000016.9:g.2129421G>C	(Likely) benign	1 lab	e0c0abe99b
7:45103544 CCM2 G>T	7	45103544	45103544	G	T	CCM2	c.232G>T	NM_031443.3	NP_113631.1:p.(Gly78Ter)	NC_000007.13:g.45103544G>T	(Likely) pathogenic	1 lab	e0c0de0b3d
5:32716535 NPR3 C>T	5	32716535	32716535	C	T	NPR3	c.769+3884C>T	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32716535C>T	(Likely) benign	1 lab	e0c3e8cc17
15:62214756 VPS13C A>G	15	62214756	62214756	A	G	VPS13C	c.6815T>C	NM_001018088.2	NP_001018098.1:p.(Ile2272Thr)	NC_000015.9:g.62214756A>G	(Likely) benign	1 lab	e0c4118cb2
5:13794030 DNAH5 A>C	5	13794030	13794030	A	C	DNAH5	c.8010+15T>G	NM_001369.2	NP_001360.1:p.?	NC_000005.9:g.13794030A>C	VUS	1 lab	e0c43e96cd
15:44881467 SPG11 T>C	15	44881467	44881467	T	C	SPG11	c.4889A>G	NM_025137.3	NP_079413.3:p.(Glu1630Gly)	NC_000015.9:g.44881467T>C	VUS	1 lab	e0c4a65a3d
5:39288957 C9 A>G	5	39288957	39288957	A	G	C9	c.1513T>C	NM_001737.3	NP_001728.1:p.(Phe505Leu)	NC_000005.9:g.39288957A>G	VUS	1 lab	e0c4c7ac48
X:77528789 CYSLTR1 A>T	X	77528789	77528789	A	T	CYSLTR1	c.455T>A	NM_001282187.1	NP_001269116.1:p.(Ile152Asn)	NC_000023.10:g.77528789A>T	VUS	1 lab	e0c4fe6d5b
1:207734479 CR1 A>G	1	207734479	207734479	A	G	CR1	c.3583A>G	NM_000651.5	NP_000642.3:p.(Arg1195Gly)	NC_000001.10:g.207734479A>G	(Likely) benign	1 lab	e0c59a8545
X:102968500 GLRA4 C>T	X	102968500	102968500	C	T	GLRA4	c.1031G>A	NM_001024452.2	NP_001019623.2:p.(Arg344His)	NC_000023.10:g.102968500C>T	VUS	1 lab	e0c70cc848
17:29527531 NF1 T>G	17	29527531	29527531	T	G	NF1	c.980T>G	NM_000267.3	NP_000258.1:p.(Leu327Arg)	NC_000017.10:g.29527531T>G	VUS	1 lab	e0c7ed96eb
9:34241975 UBAP1 A>T	9	34241975	34241975	A	T	UBAP1	c.952A>T	NM_001171203.2	NP_001164674.1:p.(Thr318Ser)	NC_000009.11:g.34241975A>T	(Likely) benign	1 lab	e0c80e2990
22:50678679 TUBGCP6 G>A	22	50678679	50678679	G	A	TUBGCP6	c.859C>T	NM_020461.3	NP_065194.2:p.(Leu287Phe)	NC_000022.10:g.50678679G>A	VUS	1 lab	e0c838bfa7
7:65547884 ASL G>A	7	65547884	65547884	G	A	ASL	c.309G>A	NM_001024943.1	NP_001020114.1:p.(Thr103=)	NC_000007.13:g.65547884G>A	(Likely) benign	1 lab	e0c953c28d
22:18561349 PEX26 C>T	22	18561349	18561349	C	T	PEX26	c.207C>T	NM_001127649.2	NP_001121121.1:p.(Ala69=)	NC_000022.10:g.18561349C>T	(Likely) benign	1 lab	e0c9636964
X:1428407 CSF2RA C>T	X	1428407	1428407	C	T	CSF2RA	c.1059C>T	NM_172246.2	NP_758449.1:p.(Ser353=)	NC_000023.10:g.1428407C>T	(Likely) benign	1 lab	e0cb477495
9:135787796 TSC1 G>GAA	9	135787796	135787798	G	GAA	TSC1	c.785_786insTT	NM_000368.4	NP_000359.1:p.(Asp265TrpfsTer54)	NC_000009.11:g.135787797_135787798insAA	(Likely) pathogenic	1 lab	e0cbc6e40b
X:69354419 IGBP1 C>T	X	69354419	69354419	C	T	IGBP1	c.235C>T	NM_001551.2	NP_001542.1:p.(Leu79Phe)	NC_000023.10:g.69354419C>T	VUS	1 lab	e0cc1b710a
11:134132475 ACAD8 A>G	11	134132475	134132475	A	G	ACAD8	c.1154A>G	NM_014384.2	NP_055199.1:p.(Gln385Arg)	NC_000011.9:g.134132475A>G	VUS	1 lab	e0cd04001c
12:40715844 LRRK2 A>G	12	40715844	40715844	A	G	LRRK2	c.5178A>G	NM_198578.3	NP_940980.3:p.(Ala1726=)	NC_000012.11:g.40715844A>G	(Likely) benign	1 lab	e0d0b7b8f7
1:247587227 NLRP3 G>T	1	247587227	247587227	G	T	NLRP3	c.476G>T	NM_001243133.1	NP_001230062.1:p.(Ser159Ile)	NC_000001.10:g.247587227G>T	VUS	1 lab	e0d1509531
19:55452829 NLRP7 C>T	19	55452829	55452829	C	T	NLRP7	c.251G>A	NM_001127255.1	NP_001120727.1:p.(Cys84Tyr)	NC_000019.9:g.55452829C>T	(Likely) benign	1 lab	e0d23c8e01
16:79628385 MAF C>T	16	79628385	79628385	C	T	MAF	c.1184G>A	NM_005360.4	NP_005351.2:p.(Arg395His)	NC_000016.9:g.79628385C>T	VUS	1 lab	e0d4d69c54
7:103281043 RELN C>T	7	103281043	103281043	C	T	RELN	c.2016G>A	NM_173054.2	NP_774959.1:p.(Pro672=)	NC_000007.13:g.103281043C>T	(Likely) benign	1 lab	e0d52892ba
7:155596104 SHH C>T	7	155596104	155596104	C	T	SHH	c.879G>A	NM_000193.3	NP_000184.1:p.(Pro293=)	NC_000007.13:g.155596104C>T	(Likely) benign	1 lab	e0d53e4319
1:235826291 LYST G>C	1	235826291	235826291	G	C	LYST	c.11355C>G	NM_001301365.1	NP_001288294.1:p.(Arg3785=)	NC_000001.10:g.235826291G>C	(Likely) benign	1 lab	e0d8ee0037
11:119059486 NHERF4 C>T	11	119059486	119059486	C	T	NHERF4	c.1197C>T	NM_001168468.2	NP_001161940.1:p.(Ser399=)	NC_000011.9:g.119059486C>T	(Likely) benign	1 lab	e0dae5e56d
8:7195171 USP17L4 G>A	8	7195171	7195171	G	A	USP17L4	c.535G>A	NM_001256874.1	NP_001243803.1:p.(Gly179Ser)	NC_000008.10:g.7195171G>A	VUS	1 lab	e0dbaf2cac
17:8788075 PIK3R5 G>C	17	8788075	8788075	G	C	PIK3R5	c.996C>G	NM_001251851.1	NP_001238780.1:p.(Ile332Met)	NC_000017.10:g.8788075G>C	VUS	1 lab	e0dc5eb359
7:19156650 TWIST1 T>TCCCGCCGCCGCTGCTGCTG	7	19156650	19156671	T	TCCCGCCGCCGCTGCTGCTG	TWIST1	c.276_294dup	NM_000474.3	NP_000465.1:p.(Ser99GlnfsTer145)	NC_000007.13:g.19156653_19156671dup	(Likely) benign	1 lab	e0dc679abb
9:36966669 PAX5 G>A	9	36966669	36966669	G	A	PAX5	c.657C>T	NM_016734.2	NP_057953.1:p.(Phe219=)	NC_000009.11:g.36966669G>A	(Likely) benign	1 lab	e0ddf8cd8a
X:129054460 UTP14A G>C	X	129054460	129054460	G	C	UTP14A	c.780G>C	NM_006649.4	NP_006640.2:p.(Lys260Asn)	NC_000023.10:g.129054460G>C	VUS	1 lab	e0deb5dc22
2:158637053 ACVR1 C>T	2	158637053	158637053	C	T	ACVR1	c.127G>A	NM_001105.4	NP_001096.1:p.(Gly43Ser)	NC_000002.11:g.158637053C>T	(Likely) benign	1 lab	e0dfd314a0
7:100640213 MUC12 G>A	7	100640213	100640213	G	A	MUC12	c.6369G>A	NM_001164462.1	NP_001157934.1:p.(Ser2123=)	NC_000007.13:g.100640213G>A	(Likely) benign	1 lab	e0e00f86cd
16:88793514 PIEZO1 C>T	16	88793514	88793514	C	T	PIEZO1	c.3388G>A	NM_001142864.4	NP_001136336.2:p.(Val1130Ile)	NC_000016.9:g.88793514C>T	(Likely) benign	1 lab	e0e2b8a5f0
1:160262330 COPA T>G	1	160262330	160262330	T	G	COPA	c.2931A>C	NM_001098398.2	NP_001091868.1:p.(Thr977=)	NC_000001.10:g.160262330T>G	(Likely) benign	1 lab	e0e304a2f3
14:75264431 YLPM1 A>G	14	75264431	75264431	A	G	YLPM1	c.2431A>G	NM_019589.3	NP_062535.2:p.(Met811Val)	NC_000014.8:g.75264431A>G	(Likely) benign	1 lab	e0e3f6872e
1:247978306 OR14A16 G>T	1	247978306	247978306	G	T	OR14A16	c.726C>A	NM_001001966.1	NP_001001966.1:p.(His242Gln)	NC_000001.10:g.247978306G>T	VUS	1 lab	e0e43d12f9
17:42475768 GPATCH8 G>A	17	42475768	42475768	G	A	GPATCH8	c.3443C>T	NM_001304940.1	NP_001291869.1:p.(Thr1148Ile)	NC_000017.10:g.42475768G>A	VUS	1 lab	e0e594712c
17:12898308 ELAC2 G>A	17	12898308	12898308	G	A	ELAC2	c.1880C>T	NM_018127.6	NP_060597.4:p.(Ser627Leu)	NC_000017.10:g.12898308G>A	(Likely) benign	1 lab	e0e643b36c
17:34894018 PIGW A>G	17	34894018	34894018	A	G	PIGW	c.1068A>G	NM_178517.4	NP_848612.2:p.(Val356=)	NC_000017.10:g.34894018A>G	(Likely) benign	1 lab	e0e660528f
16:2165407 PKD1 A>G	16	2165407	2165407	A	G	PKD1	c.2069T>C	NM_001009944.2	NP_001009944.2:p.(Val690Ala)	NC_000016.9:g.2165407A>G	VUS	1 lab	e0e8cb692a
7:116339121 MET G>A	7	116339121	116339121	G	A	MET	c.-14-4G>A	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116339121G>A	(Likely) benign	1 lab	e0e9c99fcb
14:104624095 KIF26A G>A	14	104624095	104624095	G	A	KIF26A	c.739G>A	NM_015656.1	NP_056471.1:p.(Glu247Lys)	NC_000014.8:g.104624095G>A	VUS	1 lab	e0ea921d36
18:43519674 EPG5 T>G	18	43519674	43519674	T	G	EPG5	c.1991A>C	NM_020964.3	NP_066015.2:p.(His664Pro)	NC_000018.9:g.43519674T>G	(Likely) benign	1 lab	e0eab0c5a5
3:52021373 ACY1 CCTGA>C	3	52021373	52021379	CCTGA	C	ACY1	c.759_762del	NM_000666.3	NP_000657.1:p.(Thr254SerfsTer2)	NC_000003.11:g.52021376_52021379del	VUS	1 lab	e0ec0c5717
20:17474968 BFSP1 T>A	20	17474968	17474968	T	A	BFSP1	c.1749A>T	NM_001195.4	NP_001186.1:p.(Pro583=)	NC_000020.10:g.17474968T>A	(Likely) benign	1 lab	e0ec5608a8
8:72111678 EYA1 T>C	8	72111678	72111678	T	C	EYA1	c.1699-23A>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72111678T>C	(Likely) benign	1 lab	e0ee1cedef
9:139569244 AGPAT2 C>T	9	139569244	139569244	C	T	AGPAT2	c.604G>A	NM_006412.3	NP_006403.2:p.(Val202Met)	NC_000009.11:g.139569244C>T	VUS	1 lab	e0f01c163e
14:23857377 MYH6 C>T	14	23857377	23857377	C	T	MYH6	c.4346G>A	NM_002471.3	NP_002462.2:p.(Arg1449Lys)	NC_000014.8:g.23857377C>T	VUS	1 lab	e0f27edd05
8:145003618 PLEC C>A	8	145003618	145003618	C	A	PLEC	c.3456G>T	NM_201380.3	NP_958782.1:p.(Pro1152=)	NC_000008.10:g.145003618C>A	(Likely) benign	1 lab	e0f2c00077
19:8668766 ADAMTS10 G>A	19	8668766	8668766	G	A	ADAMTS10	c.438C>T	NM_030957.3	NP_112219.3:p.(His146=)	NC_000019.9:g.8668766G>A	(Likely) benign	1 lab	e0f44a4b6c
18:43529529 EPG5 G>A	18	43529529	43529529	G	A	EPG5	c.1418C>T	NM_020964.3	NP_066015.2:p.(Pro473Leu)	NC_000018.9:g.43529529G>A	(Likely) benign	1 lab	e0f49924a4
X:68725418 NALF2 C>G	X	68725418	68725418	C	G	NALF2	c.293C>G	NM_015686.2	NP_056501.2:p.(Pro98Arg)	NC_000023.10:g.68725418C>G	VUS	1 lab	e0f51f0d0f
22:43027385 CYB5R3 G>A	22	43027385	43027385	G	A	CYB5R3	c.156C>T	NM_001129819.2	NP_001123291.1:p.(Val52=)	NC_000022.10:g.43027385G>A	(Likely) benign	1 lab	e0f52dd0d1
11:66333181 CTSF C>A	11	66333181	66333181	C	A	CTSF	c.1006G>T	NM_003793.3	NP_003784.2:p.(Gly336Cys)	NC_000011.9:g.66333181C>A	VUS	1 lab	e0f7595842
1:1431130 ATAD3B C>T	1	1431130	1431130	C	T	ATAD3B	c.1742C>T	NM_001317238.1	NP_001304167.1:p.(Pro581Leu)	NC_000001.10:g.1431130C>T	(Likely) benign	1 lab	e0f882637a
1:114441376 AP4B1 CTG>C	1	114441376	114441379	CTG	C	AP4B1	c.1160_1161del	NM_001253852.3	NP_001240781.1:p.(Thr387ArgfsTer30)	NC_000001.10:g.114441378_114441379del	(Likely) pathogenic	1 lab	e0f8d68c82
1:120458389 NOTCH2 G>A	1	120458389	120458389	G	A	NOTCH2	c.6956C>T	NM_024408.3	NP_077719.2:p.(Ala2319Val)	NC_000001.10:g.120458389G>A	VUS	1 lab	e0fa01f434
X:153663843 ATP6AP1 G>A	X	153663843	153663843	G	A	ATP6AP1	c.1195G>A	NM_001183.5	NP_001174.2:p.(Asp399Asn)	NC_000023.10:g.153663843G>A	(Likely) benign	1 lab	e0fb2f2d98
11:66453495 SPTBN2 C>T	11	66453495	66453495	C	T	SPTBN2	c.7020G>A	NM_006946.3	NP_008877.1:p.(Pro2340=)	NC_000011.9:g.66453495C>T	(Likely) benign	1 lab	e0fc6b5a54
1:186880517 PLA2G4A G>A	1	186880517	186880517	G	A	PLA2G4A	c.554G>A	NM_024420.2	NP_077734.1:p.(Arg185His)	NC_000001.10:g.186880517G>A	(Likely) benign	1 lab	e0fd9f7276
15:28391413 HERC2 C>T	15	28391413	28391413	C	T	HERC2	c.10978G>A	NM_004667.5	NP_004658.3:p.(Gly3660Ser)	NC_000015.9:g.28391413C>T	VUS	1 lab	e10427c61d
16:1568274 IFT140 G>A	16	1568274	1568274	G	A	IFT140	c.4125C>T	NM_014714.3	NP_055529.2:p.(Ile1375=)	NC_000016.9:g.1568274G>A	(Likely) benign	1 lab	e1042df2a8
16:89777757 VPS9D1 T>C	16	89777757	89777757	T	C	VPS9D1	c.811A>G	NM_004913.3	NP_004904.2:p.(Ser271Gly)	NC_000016.9:g.89777757T>C	(Likely) benign	1 lab	e10481161e
9:91653171 SHC3 A>G	9	91653171	91653171	A	G	SHC3	c.1393T>C	NM_016848.6	NP_058544.3:p.(Leu465=)	NC_000009.11:g.91653171A>G	(Likely) benign	1 lab	e104f55a80
9:13222418 MPDZ T>C	9	13222418	13222418	T	C	MPDZ	c.561A>G	NM_001330637.1	NP_001317566.1:p.(Gln187=)	NC_000009.11:g.13222418T>C	(Likely) benign	1 lab	e1051dd0e0
2:179444742 TTN G>A	2	179444742	179444742	G	A	TTN	c.67272C>T	NM_001267550.1	NP_001254479.1:p.(Tyr22424=)	NC_000002.11:g.179444742G>A	(Likely) benign	1 lab	e105b3b1ef
2:191929661 STAT4 T>C	2	191929661	191929661	T	C	STAT4	c.654A>G	NM_003151.3	NP_003142.1:p.(Gln218=)	NC_000002.11:g.191929661T>C	(Likely) benign	1 lab	e105b786cc
17:8151342 CTC1 G>A	17	8151342	8151342	G	A	CTC1	c.13C>T	NM_025099.6	NP_079375.3:p.(Arg5Trp)	NC_000017.10:g.8151342G>A	VUS	1 lab	e1069e42a3
9:139409794 NOTCH1 G>A	9	139409794	139409794	G	A	NOTCH1	c.1962C>T	NM_017617.5	NP_060087.3:p.(Thr654=)	NC_000009.11:g.139409794G>A	(Likely) benign	1 lab	e106fc645c
18:72346517 ZNF407 A>G	18	72346517	72346517	A	G	ZNF407	c.3542A>G	NM_017757.2	NP_060227.2:p.(Glu1181Gly)	NC_000018.9:g.72346517A>G	VUS	1 lab	e1073d1d3d
9:135786054 TSC1 TC>T	9	135786054	135786057	TC	T	TSC1	c.1166del	NM_000368.5	NP_000359.1:p.(Gly389GlufsTer51)	NC_000009.11:g.135786057del	(Likely) pathogenic	1 lab	e107aa70e9
10:85968128 CDHR1 G>A	10	85968128	85968128	G	A	CDHR1	c.1162G>A	NM_033100.4	NP_149091.1:p.(Asp388Asn)	NC_000010.10:g.85968128G>A	VUS	1 lab	e10b330be4
10:73550978 CDH23 G>T	10	73550978	73550978	G	T	CDH23	c.6139G>T	NM_022124.5	NP_071407.4:p.(Gly2047Trp)	NC_000010.10:g.73550978G>T	VUS	1 lab	e10bdddae7
13:60348364 DIAPH3 C>A	13	60348364	60348364	C	A	DIAPH3	c.3278G>T	NM_001042517.1	NP_001035982.1:p.(Ser1093Ile)	NC_000013.10:g.60348364C>A	VUS	1 lab	e10becd9e0
15:87217666 AGBL1 C>A	15	87217666	87217666	C	A	AGBL1	c.3220C>A	NM_152336.3	NP_689549.3:p.(Arg1074=)	NC_000015.9:g.87217666C>A	(Likely) benign	1 lab	e10e1a15de
5:34830857 RAI14 C>G	5	34830857	34830857	C	G	RAI14	c.2939C>G	NM_001145525.1	NP_001138997.1:p.(Ser980Cys)	NC_000005.9:g.34830857C>G	VUS	1 lab	e10ff42242
6:31868136 ZBTB12 C>A	6	31868136	31868136	C	A	ZBTB12	c.947G>T	NM_181842.2	NP_862825.1:p.(Ser316Ile)	NC_000006.11:g.31868136C>A	(Likely) benign	1 lab	e1109083e7
4:183714623 TENM3 G>C	4	183714623	183714623	G	C	TENM3	c.6798G>C	NM_001080477.3	NP_001073946.1:p.(Ser2266=)	NC_000004.11:g.183714623G>C	(Likely) benign	1 lab	e110bf9f02
21:34059353 SYNJ1 T>G	21	34059353	34059353	T	G	SYNJ1	c.1000A>C	NM_203446.2	NP_982271.2:p.(Lys334Gln)	NC_000021.8:g.34059353T>G	(Likely) benign	1 lab	e111acda82
12:65640071 LEMD3 G>A	12	65640071	65640071	G	A	LEMD3	c.2702G>A	NM_014319.4	NP_055134.2:p.(Arg901Gln)	NC_000012.11:g.65640071G>A	VUS	1 lab	e112ea93ca
16:89258677 CDH15 G>T	16	89258677	89258677	G	T	CDH15	c.1680G>T	NM_004933.2	NP_004924.1:p.(Leu560=)	NC_000016.9:g.89258677G>T	(Likely) benign	1 lab	e113170b52
1:160011671 KCNJ10 G>A	1	160011671	160011671	G	A	KCNJ10	c.652C>T	NM_002241.4	NP_002232.2:p.(Leu218Phe)	NC_000001.10:g.160011671G>A	VUS	1 lab	e113856304
16:90002177 TUBB3 G>A	16	90002177	90002177	G	A	TUBB3	c.1318G>A	NM_006086.4	NP_006077.2:p.(Asp440Asn)	NC_000016.9:g.90002177G>A	(Likely) benign	1 lab	e113c04a41
19:13342576 CACNA1A T>A	19	13342576	13342576	T	A	CACNA1A	c.5366A>T	NM_023035.2	NP_075461.2:p.(Asn1789Ile)	NC_000019.9:g.13342576T>A	VUS	1 lab	e1149f551f
3:48502077 ATRIP C>T	3	48502077	48502077	C	T	ATRIP	c.1624C>T	NM_130384.3	NP_569055.1:p.(Leu542Phe)	NC_000003.11:g.48502077C>T	VUS	1 lab	e119578218
17:79096276 AATK G>T	17	79096276	79096276	G	T	AATK	c.1460C>A	NM_001080395.2	NP_001073864.2:p.(Ala487Glu)	NC_000017.10:g.79096276G>T	VUS	1 lab	e1199b2b71
7:21611420 DNAH11 A>G	7	21611420	21611420	A	G	DNAH11				NC_000007.13:g.21611420A>G	(Likely) benign	1 lab	e11b0a751b
19:17397493 ANKLE1 GTGTGTGTT>G	19	17397493	17397508	GTGTGTGTT	G	ANKLE1	c.*140_*147del	NM_152363.6	NP_689576.6:p.?	NC_000019.9:g.17397501_17397508del	(Likely) benign	1 lab	e11d30eefd
16:49670329 ZNF423 G>A	16	49670329	49670329	G	A	ZNF423	c.2554C>T	NM_001271620.2	NP_001258549.1:p.(Arg852Trp)	NC_000016.9:g.49670329G>A	VUS	1 lab	e11eae8f62
15:67358470 SMAD3 C>T	15	67358470	67358470	C	T	SMAD3	c.-23C>T	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67358470C>T	(Likely) benign	1 lab	e11f5493f9
19:54682480 MBOAT7 A>C	19	54682480	54682480	A	C	MBOAT7	c.1033T>G	NM_001146082.2	NP_001139554.1:p.(Ter345GlyextTer8)	NC_000019.9:g.54682480A>C	VUS	1 lab	e120162d58
6:133834098 EYA4 G>A	6	133834098	133834098	G	A	EYA4	c.1423G>A	NM_004100.4	NP_004091.3:p.(Val475Ile)	NC_000006.11:g.133834098G>A	(Likely) benign	1 lab	e12068f8c5
6:152757155 SYNE1 G>C	6	152757155	152757155	G	C	SYNE1	c.4231C>G	NM_182961.3	NP_892006.3:p.(Gln1411Glu)	NC_000006.11:g.152757155G>C	(Likely) benign	1 lab	e1235f0d6a
16:3063730 CLDN9 G>GTCA	16	3063730	3063735	G	GTCA	CLDN9	c.370_372dup	NM_020982.4	NP_066192.1:p.(Ile124dup)	NC_000016.9:g.3063733_3063735dup	(Likely) benign	1 lab	e124bc83a7
3:132437887 NPHP3 T>C	3	132437887	132437887	T	C	NPHP3	c.621A>G	NM_153240.4	NP_694972.3:p.(Val207=)	NC_000003.11:g.132437887T>C	(Likely) benign	1 lab	e12565564d
17:73723366 ITGB4 C>T	17	73723366	73723366	C	T	ITGB4	c.162+9C>T	NM_000213.4	NP_000204.3:p.?	NC_000017.10:g.73723366C>T	(Likely) benign	1 lab	e126fe69b5
9:140777204 CACNA1B G>A	9	140777204	140777204	G	A	CACNA1B	c.399G>A	NM_000718.3	NP_000709.1:p.(Thr133=)	NC_000009.11:g.140777204G>A	(Likely) benign	1 lab	e1283dd4f0
7:117254728 CFTR G>A	7	117254728	117254728	G	A	CFTR	c.3429G>A	NM_000492.3	NP_000483.3:p.(Leu1143=)	NC_000007.13:g.117254728G>A	(Likely) benign	1 lab	e128a4792c
5:130831283 RAPGEF6 C>T	5	130831283	130831283	C	T	RAPGEF6	c.1490G>A	NM_001164386.1	NP_001157858.1:p.(Arg497Gln)	NC_000005.9:g.130831283C>T	(Likely) benign	1 lab	e129fd959e
9:116153827 ALAD C>T	9	116153827	116153827	C	T	ALAD	c.328G>A	NM_001003945.2	NP_001003945.1:p.(Val110Ile)	NC_000009.11:g.116153827C>T	VUS	1 lab	e12a23b778
1:197072560 ASPM A>G	1	197072560	197072560	A	G	ASPM	c.5821T>C	NM_018136.4	NP_060606.3:p.(Cys1941Arg)	NC_000001.10:g.197072560A>G	(Likely) benign	1 lab	e12ecb1b6b
6:46135956 ENPP5 A>G	6	46135956	46135956	A	G	ENPP5	c.44T>C	NM_001290072.2	NP_001277001.1:p.(Leu15Pro)	NC_000006.11:g.46135956A>G	VUS	1 lab	e130b534a7
3:42218299 TRAK1 C>G	3	42218299	42218299	C	G	TRAK1	c.287-7C>G	NM_001042646.3	NP_001036111.1:p.?	NC_000003.11:g.42218299C>G	(Likely) benign	1 lab	e13119c33e
12:124829285 NCOR2 G>A	12	124829285	124829285	G	A	NCOR2	c.4572C>T	NM_006312.5	NP_006303.4:p.(Arg1524=)	NC_000012.11:g.124829285G>A	(Likely) benign	1 lab	e131a489af
20:48164484 PTGIS G>A	20	48164484	48164484	G	A	PTGIS	c.271C>T	NM_000961.3	NP_000952.1:p.(Arg91Cys)	NC_000020.10:g.48164484G>A	VUS	1 lab	e131ab2f3d
6:26093356 HFE C>T	6	26093356	26093356	C	T	HFE	c.902C>T	NM_000410.3	NP_000401.1:p.(Pro301Leu)	NC_000006.11:g.26093356C>T	(Likely) benign	1 lab	e131e470a5
1:97981347 DPYD T>C	1	97981347	97981347	T	C	DPYD	c.1675A>G	NM_000110.3	NP_000101.2:p.(Met559Val)	NC_000001.10:g.97981347T>C	VUS	1 lab	e132273504
5:67589197 PIK3R1 A>G	5	67589197	67589197	A	G	PIK3R1	c.1185A>G	NM_181523.2	NP_852664.1:p.(Pro395=)	NC_000005.9:g.67589197A>G	(Likely) benign	1 lab	e134e34741
8:77895717 PEX2 C>T	8	77895717	77895717	C	T	PEX2	c.698G>A	NM_001172086.1	NP_001165557.1:p.(Ser233Asn)	NC_000008.10:g.77895717C>T	(Likely) benign	1 lab	e1350e700a
13:28626797 FLT3 T>C	13	28626797	28626797	T	C	FLT3	c.499A>G	NM_004119.2	NP_004110.2:p.(Thr167Ala)	NC_000013.10:g.28626797T>C	(Likely) benign	1 lab	e1396cf4e6
5:13864593 DNAH5 G>A	5	13864593	13864593	G	A	DNAH5	c.4509C>T	NM_001369.2	NP_001360.1:p.(Thr1503=)	NC_000005.9:g.13864593G>A	(Likely) benign	1 lab	e139c05504
5:52368525 ITGA2 A>G	5	52368525	52368525	A	G	ITGA2	c.2429A>G	NM_002203.3	NP_002194.2:p.(Gln810Arg)	NC_000005.9:g.52368525A>G	(Likely) benign	1 lab	e13e8c2c96
8:144993053 PLEC G>A	8	144993053	144993053	G	A	PLEC	c.11347C>T	NM_201380.3	NP_958782.1:p.(Arg3783Cys)	NC_000008.10:g.144993053G>A	VUS	1 lab	e13ea60e6d
14:30108111 PRKD1 C>T	14	30108111	30108111	C	T	PRKD1	c.721-1G>A	NM_001330069.1	NP_001316998.1:p.?	NC_000014.8:g.30108111C>T	VUS	1 lab	e13f41eb85
2:46707895 TMEM247 C>A	2	46707895	46707895	C	A	TMEM247	c.469C>A	NM_001145051.2	NP_001138523.1:p.(Pro157Thr)	NC_000002.11:g.46707895C>A	(Likely) benign	1 lab	e13f867236
X:54048759 PHF8 T>C	X	54048759	54048759	T	C	PHF8	c.226A>G	NM_015107.2	NP_055922.1:p.(Lys76Glu)	NC_000023.10:g.54048759T>C	VUS	1 lab	e13fdc9952
1:155165829 THBS3 A>G	1	155165829	155165829	A	G	THBS3	c.2761T>C	NM_007112.4	NP_009043.1:p.(Cys921Arg)	NC_000001.10:g.155165829A>G	VUS	1 lab	e14004b71f
18:77477840 CTDP1 G>A	18	77477840	77477840	G	A	CTDP1	c.2241G>A	NM_004715.4	NP_004706.3:p.(Arg747=)	NC_000018.9:g.77477840G>A	(Likely) benign	1 lab	e141893f8a
16:57953079 CNGB1 G>A	16	57953079	57953079	G	A	CNGB1	c.1881C>T	NM_001297.4	NP_001288.3:p.(Cys627=)	NC_000016.9:g.57953079G>A	(Likely) benign	1 lab	e142ad5538
9:79320487 PRUNE2 T>C	9	79320487	79320487	T	C	PRUNE2	c.6703A>G	NM_015225.3	NP_056040.2:p.(Ile2235Val)	NC_000009.11:g.79320487T>C	(Likely) benign	1 lab	e1437a925c
2:152483688 NEB C>T	2	152483688	152483688	C	T	NEB	c.10175G>A	NM_001271208.1	NP_001258137.1:p.(Arg3392Lys)	NC_000002.11:g.152483688C>T	VUS	1 lab	e1439dd354
1:27098983 ARID1A G>C	1	27098983	27098983	G	C	ARID1A	c.3407-8G>C	NM_006015.4	NP_006006.3:p.?	NC_000001.10:g.27098983G>C	(Likely) benign	1 lab	e1443b087c
20:62642781 PRPF6 G>A	20	62642781	62642781	G	A	PRPF6	c.1449G>A	NM_012469.3	NP_036601.2:p.(Val483=)	NC_000020.10:g.62642781G>A	(Likely) benign	1 lab	e147da87c6
X:118120945 LONRF3 G>A	X	118120945	118120945	G	A	LONRF3	c.193G>A	NM_001289109.1	NP_001276038.1:p.(Asp65Asn)	NC_000023.10:g.118120945G>A	(Likely) benign	1 lab	e147efe68c
9:117166272 WHRN G>A	9	117166272	117166272	G	A	WHRN	c.2322C>T	NM_015404.3	NP_056219.3:p.(Ser774=)	NC_000009.11:g.117166272G>A	(Likely) benign	1 lab	e149ceef32
19:55316320 KIR2DL4 G>A	19	55316320	55316320	G	A	KIR2DL4	c.149G>A	NM_001080772.2	NP_001074241.1:p.(Arg50Gln)	NC_000019.9:g.55316320G>A	(Likely) benign	1 lab	e149fd8408
2:32362243 SPAST T>A	2	32362243	32362243	T	A	SPAST	c.1479T>A	NM_014946.3	NP_055761.2:p.(Asp493Glu)	NC_000002.11:g.32362243T>A	VUS	1 lab	e15041e642
3:195622249 TNK2 G>A	3	195622249	195622249	G	A	TNK2	c.39C>T	NM_001010938.1	NP_001010938.1:p.(Asp13=)	NC_000003.11:g.195622249G>A	(Likely) benign	1 lab	e151e1c5fd
20:62321489 RTEL1 C>T	20	62321489	62321489	C	T	RTEL1	c.2191C>T	NM_001283009.1	NP_001269938.1:p.(His731Tyr)	NC_000020.10:g.62321489C>T	(Likely) benign	1 lab	e1529fae82
9:102888676 INVS C>G	9	102888676	102888676	C	G	INVS	c.118C>G	NM_014425.4	NP_055240.2:p.(Leu40Val)	NC_000009.11:g.102888676C>G	VUS	1 lab	e157407663
19:3982324 EEF2 G>A	19	3982324	3982324	G	A	EEF2	c.711C>T	NM_001961.3	NP_001952.1:p.(Ala237=)	NC_000019.9:g.3982324G>A	(Likely) benign	1 lab	e15799504a
19:47979803 KPTN C>G	19	47979803	47979803	C	G	KPTN	c.1168G>C	NM_007059.3	NP_008990.2:p.(Val390Leu)	NC_000019.9:g.47979803C>G	(Likely) benign	1 lab	e157d279c8
9:135797338 TSC1 GA>G	9	135797338	135797339	GA	G	TSC1	c.530del	NM_000368.5	NP_000359.1:p.(Leu177ProfsTer33)	NC_000009.11:g.135797339del	(Likely) pathogenic	1 lab	e15af8e213
1:20971142 PINK1 G>A	1	20971142	20971142	G	A	PINK1	c.936G>A	NM_032409.2	NP_115785.1:p.(Arg312=)	NC_000001.10:g.20971142G>A	(Likely) benign	1 lab	e15dea9c11
3:121712431 ILDR1 C>T	3	121712431	121712431	C	T	ILDR1	c.1165G>A	NM_001199799.1	NP_001186728.1:p.(Ala389Thr)	NC_000003.11:g.121712431C>T	VUS	1 lab	e1601dc8cd
12:48192428 HDAC7 A>G	12	48192428	48192428	A	G	HDAC7	c.215T>C	NM_001308090.1	NP_001295019.1:p.(Met72Thr)	NC_000012.11:g.48192428A>G	VUS	1 lab	e162a31c05
1:12337667 VPS13D C>T	1	12337667	12337667	C	T	VPS13D	c.4022C>T	NM_015378.4	NP_056193.2:p.(Ser1341Leu)	NC_000001.10:g.12337667C>T	VUS	1 lab	e162df144a
9:14842587 FREM1 C>T	9	14842587	14842587	C	T	FREM1	c.1465G>A	NM_144966.5	NP_659403.4:p.(Asp489Asn)	NC_000009.11:g.14842587C>T	VUS	1 lab	e163bfccb9
17:43522968 PLEKHM1 T>A	17	43522968	43522968	T	A	PLEKHM1	c.2705A>T	NM_014798.2	NP_055613.1:p.(Gln902Leu)	NC_000017.10:g.43522968T>A	(Likely) benign	1 lab	e1642f00f8
X:75648816 MAGEE1 C>G	X	75648816	75648816	C	G	MAGEE1	c.493C>G	NM_020932.2	NP_065983.1:p.(Pro165Ala)	NC_000023.10:g.75648816C>G	(Likely) benign	1 lab	e1644684a4
14:88417046 GALC T>A	14	88417046	88417046	T	A	GALC	c.1208A>T	NM_000153.3	NP_000144.2:p.(Asn403Ile)	NC_000014.8:g.88417046T>A	(Likely) pathogenic	1 lab	e167ae13c0
1:216591942 USH2A G>A	1	216591942	216591942	G	A	USH2A	c.565C>T	NM_206933.2	NP_996816.2:p.(Arg189Cys)	NC_000001.10:g.216591942G>A	VUS	1 lab	e16a1d65b4
2:16085996 MYCN G>T	2	16085996	16085996	G	T	MYCN	c.1172G>T	NM_001293228.1	NP_001280157.1:p.(Arg391Leu)	NC_000002.11:g.16085996G>T	(Likely) pathogenic	1 lab	e16a9776cd
1:16372124 CLCNKB G>T	1	16372124	16372124	G	T	CLCNKB	c.172G>T	NM_000085.4	NP_000076.2:p.(Val58Leu)	NC_000001.10:g.16372124G>T	VUS	1 lab	e16ef1d1d3
19:37101582 ZNF382 G>A	19	37101582	37101582	G	A	ZNF382	c.170G>A	NM_032825.5	NP_116214.2:p.(Arg57His)	NC_000019.9:g.37101582G>A	(Likely) benign	1 lab	e170997170
18:6948511 LAMA1 G>A	18	6948511	6948511	G	A	LAMA1	c.8601C>T	NM_005559.3	NP_005550.2:p.(Asn2867=)	NC_000018.9:g.6948511G>A	(Likely) benign	1 lab	e171d0687a
4:6302394 WFS1 AC>A	4	6302394	6302399	AC	A	WFS1	c.877del	NM_006005.3	NP_005996.2:p.(Leu293CysfsTer11)	NC_000004.11:g.6302399del	(Likely) pathogenic	1 lab	e1726d31d3
9:140056500 GRIN1 A>G	9	140056500	140056500	A	G	GRIN1	c.1592A>G	NM_007327.3	NP_015566.1:p.(Lys531Arg)	NC_000009.11:g.140056500A>G	(Likely) pathogenic	1 lab	e172d76496
1:27873951 AHDC1 A>G	1	27873951	27873951	A	G	AHDC1	c.4676T>C	NM_001029882.3	NP_001025053.1:p.(Leu1559Pro)	NC_000001.10:g.27873951A>G	VUS	1 lab	e17569a51e
X:100509875 DRP2 C>T	X	100509875	100509875	C	T	DRP2	c.2142C>T	NM_001939.2	NP_001930.2:p.(His714=)	NC_000023.10:g.100509875C>T	(Likely) benign	1 lab	e1797b46de
11:69972212 ANO1 C>T	11	69972212	69972212	C	T	ANO1	c.1008C>T	NM_018043.5	NP_060513.5:p.(Gly336=)	NC_000011.9:g.69972212C>T	(Likely) benign	1 lab	e179ffcc5b
8:106431456 ZFPM2 T>C	8	106431456	106431456	T	C	ZFPM2	c.125T>C	NM_012082.3	NP_036214.2:p.(Leu42Ser)	NC_000008.10:g.106431456T>C	VUS	1 lab	e17a03c077
6:31901954 C2 C>T	6	31901954	31901954	C	T	C2	c.640C>T	NM_001282458.1	NP_001269387.1:p.(Arg214Cys)	NC_000006.11:g.31901954C>T	VUS	1 lab	e17a3e200f
18:3447757 TGIF1 G>C	18	3447757	3447757	G	C	TGIF1	c.20G>C	NM_173207.2	NP_775299.1:p.(Ser7Thr)	NC_000018.9:g.3447757G>C	(Likely) benign	1 lab	e17a53fe93
14:64519229 SYNE2 G>A	14	64519229	64519229	G	A	SYNE2	c.8598G>A	NM_182914.2	NP_878918.2:p.(Thr2866=)	NC_000014.8:g.64519229G>A	(Likely) benign	1 lab	e17a9bd84c
9:135801127 TSC1 C>T	9	135801127	135801127	C	T	TSC1	c.211-1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135801127C>T	(Likely) pathogenic	1 lab	e17c3df466
16:8895774 PMM2 G>A	16	8895774	8895774	G	A	PMM2	c.178+7G>A	NM_000303.2	NP_000294.1:p.?	NC_000016.9:g.8895774G>A	(Likely) benign	1 lab	e17cda3440
4:110453824 SEC24B A>G	4	110453824	110453824	A	G	SEC24B	c.3510A>G	NM_001300813.2	NP_001287742.1:p.(Val1170=)	NC_000004.11:g.110453824A>G	(Likely) benign	1 lab	e17f0efade
8:33361264 TTI2 A>G	8	33361264	33361264	A	G	TTI2	c.1115+2T>C	NM_025115.3	NP_079391.2:p.?	NC_000008.10:g.33361264A>G	(Likely) pathogenic	1 lab	e17f487762
9:71869246 TJP2 G>A	9	71869246	71869246	G	A	TJP2	c.3529G>A	NM_004817.4	NP_004808.2:p.(Gly1177Ser)	NC_000009.11:g.71869246G>A	(Likely) benign	1 lab	e18286bb97
11:6661075 DCHS1 G>A	11	6661075	6661075	G	A	DCHS1				NC_000011.9:g.6661075G>A	(Likely) benign	1 lab	e18308c1c5
17:71199854 COG1 A>G	17	71199854	71199854	A	G	COG1	c.2304A>G	NM_018714.2	NP_061184.1:p.(Thr768=)	NC_000017.10:g.71199854A>G	(Likely) benign	1 lab	e184a583fe
8:145024579 PLEC C>T	8	145024579	145024579	C	T	PLEC	c.194-11719G>A	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024579C>T	VUS	1 lab	d10bcb13f9
11:34107747 CAPRIN1 G>GT	11	34107747	34107748	G	GT	CAPRIN1	c.1104dup	NM_005898.5	NP_005889.3:p.(Pro369SerfsTer3)	NC_000011.9:g.34107748dup	VUS	1 lab	e18549017f
16:837604 RPUSD1 C>T	16	837604	837604	C	T	RPUSD1	c.134G>A	NM_001324086.1	NP_001311015.1:p.(Arg45Gln)	NC_000016.9:g.837604C>T	(Likely) benign	1 lab	e187b4b3a9
X:120182219 GLUD2 C>T	X	120182219	120182219	C	T	GLUD2	c.681C>T	NM_012084.3	NP_036216.2:p.(Asn227=)	NC_000023.10:g.120182219C>T	(Likely) benign	1 lab	e187dd820c
3:123471207 MYLK C>T	3	123471207	123471207	C	T	MYLK	c.344G>A	NM_053025.3	NP_444253.3:p.(Arg115His)	NC_000003.11:g.123471207C>T	VUS	1 lab	e18ac8e665
9:35704061 TLN1 G>A	9	35704061	35704061	G	A	TLN1	c.6158C>T	NM_006289.4	NP_006280.3:p.(Ala2053Val)	NC_000009.11:g.35704061G>A	(Likely) benign	1 lab	e18afdb7cf
X:30709269 GK G>A	X	30709269	30709269	G	A	GK	c.367G>A	NM_001205019.1	NP_001191948.1:p.(Val123Ile)	NC_000023.10:g.30709269G>A	(Likely) benign	1 lab	e18b80b8df
16:2129671 TSC2 G>A	16	2129671	2129671	G	A	TSC2	c.3397+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2129671G>A	(Likely) pathogenic	1 lab	e18b9df9fb
9:126135799 CRB2 C>T	9	126135799	126135799	C	T	CRB2	c.2989C>T	NM_173689.6	NP_775960.4:p.(Gln997Ter)	NC_000009.11:g.126135799C>T	VUS	1 lab	e18f159687
22:38121652 TRIOBP C>G	22	38121652	38121652	C	G	TRIOBP	c.3089C>G	NM_001039141.2	NP_001034230.1:p.(Pro1030Arg)	NC_000022.10:g.38121652C>G	VUS	1 lab	e191454d86
18:43462429 EPG5 G>A	18	43462429	43462429	G	A	EPG5	c.5328C>T	NM_020964.3	NP_066015.2:p.(Ser1776=)	NC_000018.9:g.43462429G>A	(Likely) benign	1 lab	e1925e2c9d
2:179648484 TTN G>A	2	179648484	179648484	G	A	TTN	c.2804C>T	NM_001267550.1	NP_001254479.1:p.(Pro935Leu)	NC_000002.11:g.179648484G>A	VUS	1 lab	e1930d5079
1:19180803 TAS1R2 G>A	1	19180803	19180803	G	A	TAS1R2	c.1161C>T	NM_152232.2	NP_689418.2:p.(Ser387=)	NC_000001.10:g.19180803G>A	(Likely) benign	1 lab	e196ef70f3
17:42426916 GRN A>G	17	42426916	42426916	A	G	GRN	c.261A>G	NM_002087.2	NP_002078.1:p.(Pro87=)	NC_000017.10:g.42426916A>G	(Likely) benign	1 lab	e198013054
16:15149768 NTAN1 G>A	16	15149768	15149768	G	A	NTAN1	c.61C>T	NM_173474.4	NP_775745.1:p.(Arg21Ter)	NC_000016.9:g.15149768G>A	VUS	1 lab	e198b4c3da
2:208988848 CRYGD G>A	2	208988848	208988848	G	A	CRYGD	c.240C>T	NM_006891.3	NP_008822.2:p.(Arg80=)	NC_000002.11:g.208988848G>A	(Likely) benign	1 lab	e199732758
14:24572709 PCK2 T>TC	14	24572709	24572716	T	TC	PCK2	c.1067-3dup	NM_001308054.1	NP_001294983.1:p.?	NC_000014.8:g.24572716dup	(Likely) benign	1 lab	e19a258131
17:29553679 NF1 C>CT	17	29553679	29553680	C	CT	NF1	c.2229dup	NM_000267.3	NP_000258.1:p.(Val744CysfsTer24)	NC_000017.10:g.29553680dup	(Likely) pathogenic	1 lab	e19aa71e9a
19:33167525 RGS9BP G>A	19	33167525	33167525	G	A	RGS9BP	c.356G>A	NM_207391.2	NP_997274.2:p.(Gly119Asp)	NC_000019.9:g.33167525G>A	VUS	1 lab	e19bffe947
8:21904138 FGF17 C>T	8	21904138	21904138	C	T	FGF17	c.351C>T	NM_003867.3	NP_003858.1:p.(Ile117=)	NC_000008.10:g.21904138C>T	(Likely) benign	1 lab	e19d0cefc8
2:182414387 CERKL A>G	2	182414387	182414387	A	G	CERKL	c.947T>C	NM_001030311.2	NP_001025482.1:p.(Ile316Thr)	NC_000002.11:g.182414387A>G	VUS	1 lab	e19d9e4e12
22:41573830 EP300 A>G	22	41573830	41573830	A	G	EP300	c.6115A>G	NM_001429.3	NP_001420.2:p.(Ser2039Gly)	NC_000022.10:g.41573830A>G	(Likely) benign	1 lab	e19dc592ce
8:19687972 INTS10 A>T	8	19687972	19687972	A	T	INTS10	c.1196A>T	NM_018142.4	NP_060612.2:p.(Asn399Ile)	NC_000008.10:g.19687972A>T	VUS	1 lab	e19f11cb1e
22:20456958 RIMBP3 C>T	22	20456958	20456958	C	T	RIMBP3	c.4344G>A	NM_015672.1	NP_056487.1:p.(Thr1448=)	NC_000022.10:g.20456958C>T	(Likely) benign	1 lab	e1a09f3631
21:46888167 COL18A1 G>A	21	46888167	46888167	G	A	COL18A1	c.658G>A	NM_030582.4	NP_085059.2:p.(Glu220Lys)	NC_000021.8:g.46888167G>A	VUS	1 lab	e1a12bd8a3
X:84522288 ZNF711 C>T	X	84522288	84522288	C	T	ZNF711	c.921C>T	NM_001330574.1	NP_001317503.1:p.(Cys307=)	NC_000023.10:g.84522288C>T	(Likely) benign	1 lab	e1a14babb4
2:96521337 MISSING G>A	2	96521337	96521337	G	A	MISSING				NC_000002.11:g.96521337G>A	VUS	1 lab	e3189e5c85
1:237875147 RYR2 T>TA	1	237875147	237875150	T	TA	RYR2	c.10323+13dup	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237875150dup	(Likely) benign	1 lab	e1a43bcad3
4:170498175 NEK1 A>C	4	170498175	170498175	A	C	NEK1	c.924T>G	NM_001199397.1	NP_001186326.1:p.(Ile308Met)	NC_000004.11:g.170498175A>C	VUS	1 lab	e1a546137e
2:171056702 MYO3B T>C	2	171056702	171056702	T	C	MYO3B	c.229T>C	NM_138995.4	NP_620482.3:p.(Phe77Leu)	NC_000002.11:g.171056702T>C	(Likely) benign	1 lab	e1a613487b
1:100715361 DBT T>A	1	100715361	100715361	T	A	DBT	c.16A>T	NM_001918.3	NP_001909.3:p.(Met6Leu)	NC_000001.10:g.100715361T>A	(Likely) benign	1 lab	e1a828161f
X:114425638 RBMXL3 A>G	X	114425638	114425638	A	G	RBMXL3	c.1634A>G	NM_001145346.1	NP_001138818.1:p.(His545Arg)	NC_000023.10:g.114425638A>G	VUS	1 lab	e1a84ba19d
12:56749081 STAT2 G>A	12	56749081	56749081	G	A	STAT2	c.526C>T	NM_005419.4	NP_005410.1:p.(Arg176Ter)	NC_000012.11:g.56749081G>A	VUS	1 lab	e1ac2e0e89
X:153187162 ARHGAP4 G>A	X	153187162	153187162	G	A	ARHGAP4	c.168C>T	NM_001164741.1	NP_001158213.1:p.(Arg56=)	NC_000023.10:g.153187162G>A	(Likely) benign	1 lab	e1aca2b252
15:43910266 STRC G>C	15	43910266	43910266	G	C	STRC	c.353C>G	NM_153700.2	NP_714544.1:p.(Ala118Gly)	NC_000015.9:g.43910266G>C	(Likely) benign	1 lab	e1acfbaa7f
9:137698102 COL5A1 C>A	9	137698102	137698102	C	A	COL5A1	c.3326C>A	NM_000093.4	NP_000084.3:p.(Pro1109His)	NC_000009.11:g.137698102C>A	VUS	1 lab	e1ae9ca03e
1:39852985 MACF1 C>T	1	39852985	39852985	C	T	MACF1	c.8285C>T	NM_012090.5	NP_036222.3:p.(Ala2762Val)	NC_000001.10:g.39852985C>T	(Likely) benign	1 lab	e1afd62622
17:63221233 RGS9 C>G	17	63221233	63221233	C	G	RGS9	c.1521C>G	NM_003835.3	NP_003826.2:p.(Phe507Leu)	NC_000017.10:g.63221233C>G	(Likely) benign	1 lab	e1aff9a748
8:17928893 ASAH1 T>A	8	17928893	17928893	T	A	ASAH1	c.132A>T	NM_177924.5	NP_808592.2:p.(Arg44Ser)	NC_000008.10:g.17928893T>A	(Likely) benign	1 lab	e1b08b32a5
8:134024158 TG C>T	8	134024158	134024158	C	T	TG	c.6275C>T	NM_003235.4	NP_003226.4:p.(Ser2092Leu)	NC_000008.10:g.134024158C>T	VUS	1 lab	e1b09bf5f1
22:38119902 TRIOBP A>G	22	38119902	38119902	A	G	TRIOBP	c.1339A>G	NM_001039141.2	NP_001034230.1:p.(Thr447Ala)	NC_000022.10:g.38119902A>G	(Likely) benign	1 lab	e1b2cb435a
3:184045451 EIF4G1 A>G	3	184045451	184045451	A	G	EIF4G1	c.3742A>G	NM_182917.4	NP_886553.3:p.(Lys1248Glu)	NC_000003.11:g.184045451A>G	VUS	1 lab	e1b3408c57
10:102783698 PDZD7 TTCC>T	10	102783698	102783704	TTCC	T	PDZD7	c.351_353del	NM_001195263.2	NP_001182192.1:p.(Glu118del)	NC_000010.10:g.102783702_102783704del	VUS	1 lab	e1b56bba73
20:2638848 NOP56 G>A	20	2638848	2638848	G	A	NOP56	c.1693G>A	NM_006392.3	NP_006383.2:p.(Glu565Lys)	NC_000020.10:g.2638848G>A	VUS	1 lab	e1b59f5c7c
X:96139716 RPA4 G>A	X	96139716	96139716	G	A	RPA4	c.407G>A	NM_013347.4	NP_037479.1:p.(Gly136Glu)	NC_000023.10:g.96139716G>A	(Likely) benign	1 lab	e1b5ae77b4
X:10096715 WWC3 G>A	X	10096715	10096715	G	A	WWC3	c.2399G>A	NM_015691.3	NP_056506.2:p.(Arg800His)	NC_000023.10:g.10096715G>A	VUS	1 lab	e1b689f996
9:127253388 NR5A1 GCAGA>G	9	127253388	127253394	GCAGA	G	NR5A1	c.1106_1109del	NM_004959.5	NP_004950.2:p.(Val369AlafsTer12)	NC_000009.11:g.127253391_127253394del	(Likely) pathogenic	1 lab	e1b731d5a2
19:50868855 NAPSA T>G	19	50868855	50868855	T	G	NAPSA	c.24A>C	NM_004851.3	NP_004842.1:p.(Gln8His)	NC_000019.9:g.50868855T>G	VUS	1 lab	e1b81a4dbd
8:22291422 SLC39A14 G>C	8	22291422	22291422	G	C	SLC39A14	c.1351G>C	NM_001135154.2	NP_001128626.1:p.(Ala451Pro)	NC_000008.10:g.22291422G>C	(Likely) benign	1 lab	e1b8ce6f5c
7:128852075 SMO C>A	7	128852075	128852075	C	A	SMO	c.2147C>A	NM_005631.4	NP_005622.1:p.(Ala716Glu)	NC_000007.13:g.128852075C>A	(Likely) benign	1 lab	e1b9c9550a
1:196749086 CFHR3 C>T	1	196749086	196749086	C	T	CFHR3	c.413C>T	NM_021023.5	NP_066303.2:p.(Pro138Leu)	NC_000001.10:g.196749086C>T	(Likely) benign	1 lab	e1ba15d6ac
X:114425344 RBMXL3 G>A	X	114425344	114425344	G	A	RBMXL3	c.1340G>A	NM_001145346.1	NP_001138818.1:p.(Arg447Gln)	NC_000023.10:g.114425344G>A	(Likely) benign	1 lab	e1be5138f8
11:1262126 MUC5B G>A	11	1262126	1262126	G	A	MUC5B	c.4016G>A	NM_002458.2	NP_002449.2:p.(Arg1339His)	NC_000011.9:g.1262126G>A	(Likely) benign	1 lab	e1c27b3e97
1:20005445 HTR6 G>A	1	20005445	20005445	G	A	HTR6	c.907G>A	NM_000871.3	NP_000862.1:p.(Asp303Asn)	NC_000001.10:g.20005445G>A	VUS	1 lab	e1c2c9b1be
15:25616147 UBE3A CTTCA>C	15	25616147	25616153	CTTCA	C	UBE3A	c.1170_1173del	NM_130839.5	NP_570854.1:p.(Asn390LysfsTer14)	NC_000015.9:g.25616150_25616153del	(Likely) pathogenic	1 lab	e1c3dd5919
19:55325144 KIR2DL4 G>GA	19	55325144	55325145	G	GA	KIR2DL4	c.811dup	NM_001080772.2	NP_001074241.1:p.(Met271AsnfsTer108)	NC_000019.9:g.55325145dup	(Likely) benign	1 lab	e1c43c9220
12:124829156 NCOR2 C>T	12	124829156	124829156	C	T	NCOR2	c.4701G>A	NM_006312.5	NP_006303.4:p.(Pro1567=)	NC_000012.11:g.124829156C>T	(Likely) benign	1 lab	e1c4d8734c
16:2125908 TSC2 C>T	16	2125908	2125908	C	T	TSC2	c.2639+15C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2125908C>T	(Likely) benign	1 lab	e1c5a5a768
7:5751449 RNF216 C>T	7	5751449	5751449	C	T	RNF216	c.2004G>A	NM_207111.3	NP_996994.1:p.(Pro668=)	NC_000007.13:g.5751449C>T	(Likely) benign	1 lab	e1c7761543
1:26764719 DHDDS A>G	1	26764719	26764719	A	G	DHDDS	c.124A>G	NM_024887.3	NP_079163.2:p.(Lys42Glu)	NC_000001.10:g.26764719A>G	VUS	1 lab	e1c7acb622
X:53106634 GPR173 G>C	X	53106634	53106634	G	C	GPR173	c.831G>C	NM_018969.5	NP_061842.1:p.(Glu277Asp)	NC_000023.10:g.53106634G>C	VUS	1 lab	e1c8ae507c
17:79478915 ACTG1 C>T	17	79478915	79478915	C	T	ACTG1	c.363+14G>A	NM_001199954.2	NP_001186883.1:p.?	NC_000017.10:g.79478915C>T	(Likely) benign	1 lab	e1ca0d6227
7:113519232 PPP1R3A C>A	7	113519232	113519232	C	A	PPP1R3A	c.1915G>T	NM_002711.3	NP_002702.2:p.(Gly639Cys)	NC_000007.13:g.113519232C>A	(Likely) benign	1 lab	e1cace50fd
7:2472905 CHST12 A>G	7	2472905	2472905	A	G	CHST12	c.631A>G	NM_018641.4	NP_061111.1:p.(Ser211Gly)	NC_000007.13:g.2472905A>G	VUS	1 lab	e1cb45ad41
17:73518233 TSEN54 G>A	17	73518233	73518233	G	A	TSEN54	c.1071G>A	NM_207346.2	NP_997229.2:p.(Ala357=)	NC_000017.10:g.73518233G>A	(Likely) benign	1 lab	e1cbc94dfd
2:223086026 PAX3 G>A	2	223086026	223086026	G	A	PAX3	c.873C>T	NM_181458.3	NP_852123.1:p.(Pro291=)	NC_000002.11:g.223086026G>A	(Likely) benign	1 lab	e1ce1f78e9
16:2137878 TSC2 T>G	16	2137878	2137878	T	G	TSC2	c.5004T>G	NM_000548.3	NP_000539.2:p.(Phe1668Leu)	NC_000016.9:g.2137878T>G	VUS	1 lab	e1ce678faf
17:40940146 WNK4 A>T	17	40940146	40940146	A	T	WNK4	c.1864-2A>T	NM_032387.4	NP_115763.2:p.?	NC_000017.10:g.40940146A>T	VUS	1 lab	e1ceddebb9
19:4818354 TICAM1 G>A	19	4818354	4818354	G	A	TICAM1	c.36C>T	NM_182919.3	NP_891549.1:p.(Phe12=)	NC_000019.9:g.4818354G>A	(Likely) benign	1 lab	e1d21ff549
1:22180697 HSPG2 C>T	1	22180697	22180697	C	T	HSPG2	c.6431G>A	NM_001291860.1	NP_001278789.1:p.(Ser2144Asn)	NC_000001.10:g.22180697C>T	(Likely) benign	1 lab	e1d3bef3c1
4:6302881 WFS1 C>T	4	6302881	6302881	C	T	WFS1	c.1359C>T	NM_006005.3	NP_005996.2:p.(Pro453=)	NC_000004.11:g.6302881C>T	(Likely) benign	1 lab	e1d424026d
X:109943881 CHRDL1 C>T	X	109943881	109943881	C	T	CHRDL1	c.609+1G>A	NM_001143981.1	NP_001137453.1:p.?	NC_000023.10:g.109943881C>T	(Likely) pathogenic	1 lab	e1d64fe417
17:77082105 ENGASE C>A	17	77082105	77082105	C	A	ENGASE	c.1906C>A	NM_001042573.2	NP_001036038.1:p.(Arg636=)	NC_000017.10:g.77082105C>A	(Likely) benign	1 lab	e1d7eb871b
17:29684327 NF1 G>A	17	29684327	29684327	G	A	NF1	c.7847G>A	NM_000267.3	NP_000258.1:p.(Arg2616Gln)	NC_000017.10:g.29684327G>A	(Likely) benign	1 lab	e1d89c875f
15:23891213 MAGEL2 C>A	15	23891213	23891213	C	A	MAGEL2	c.1677G>T	NM_019066.4	NP_061939.3:p.(Pro559=)	NC_000015.9:g.23891213C>A	(Likely) benign	1 lab	e1db9fa30f
6:3154931 TUBB2A G>A	6	3154931	3154931	G	A	TUBB2A	c.504C>T	NM_001069.2	NP_001060.1:p.(Ser168=)	NC_000006.11:g.3154931G>A	(Likely) benign	1 lab	e1dce99bf6
7:40228169 SUGCT G>A	7	40228169	40228169	G	A	SUGCT	c.323G>A	NM_001193311.1	NP_001180240.1:p.(Arg108Gln)	NC_000007.13:g.40228169G>A	VUS	1 lab	e1de3fb3ac
17:8814719 PIK3R5 G>A	17	8814719	8814719	G	A	PIK3R5	c.93C>T	NM_014308.3	NP_055123.2:p.(Thr31=)	NC_000017.10:g.8814719G>A	(Likely) benign	1 lab	e1dfa9d158
X:57515336 FAAH2 G>A	X	57515336	57515336	G	A	FAAH2	c.1570G>A	NM_174912.3	NP_777572.2:p.(Gly524Arg)	NC_000023.10:g.57515336G>A	VUS	1 lab	e1dfc3d9ba
6:51613039 PKHD1 T>C	6	51613039	51613039	T	C	PKHD1	c.9375A>G	NM_138694.3	NP_619639.3:p.(Ser3125=)	NC_000006.11:g.51613039T>C	(Likely) benign	1 lab	e1e11183c4
7:82508669 PCLO C>T	7	82508669	82508669	C	T	PCLO	c.13638G>A	NM_033026.5	NP_149015.2:p.(Thr4546=)	NC_000007.13:g.82508669C>T	(Likely) benign	1 lab	e1e9dfed83
19:35804312 MAG G>A	19	35804312	35804312	G	A	MAG	c.1761G>A	NM_001199216.1	NP_001186145.1:p.(Thr587=)	NC_000019.9:g.35804312G>A	(Likely) benign	1 lab	e1e1a73353
8:11167134 MTMR9 A>G	8	11167134	11167134	A	G	MTMR9	c.908A>G	NM_015458.4	NP_056273.2:p.(Asn303Ser)	NC_000008.10:g.11167134A>G	VUS	1 lab	e1e361765e
X:109560826 AMMECR1 C>G	X	109560826	109560826	C	G	AMMECR1	c.104+1G>C	NM_001171689.1	NP_001165160.1:p.?	NC_000023.10:g.109560826C>G	(Likely) pathogenic	1 lab	e1e38bc3c5
11:66475149 SPTBN2 G>A	11	66475149	66475149	G	A	SPTBN2	c.1491C>T	NM_006946.3	NP_008877.1:p.(His497=)	NC_000011.9:g.66475149G>A	(Likely) benign	1 lab	e1e38c71a4
19:36216674 KMT2B G>C	19	36216674	36216674	G	C	KMT2B	c.3840G>C	NM_014727.2	NP_055542.1:p.(Leu1280=)	NC_000019.9:g.36216674G>C	(Likely) benign	1 lab	e1e425a0db
4:151520263 LRBA C>T	4	151520263	151520263	C	T	LRBA	c.5942G>A	NM_001199282.2	NP_001186211.2:p.(Arg1981His)	NC_000004.11:g.151520263C>T	VUS	1 lab	e1e51db009
X:103042845 PLP1 G>T	X	103042845	103042845	G	T	PLP1	c.572G>T	NM_001128834.2	NP_001122306.1:p.(Ser191Ile)	NC_000023.10:g.103042845G>T	VUS	1 lab	e1e5e5a63d
3:148919961 CP G>T	3	148919961	148919961	G	T	CP	c.1276C>A	NM_000096.3	NP_000087.1:p.(Arg426Ser)	NC_000003.11:g.148919961G>T	(Likely) benign	1 lab	e1e65de350
13:40362484 COG6 C>T	13	40362484	40362484	C	T	COG6	c.1839C>T	NM_001145079.1	NP_001138551.1:p.(Asn613=)	NC_000013.10:g.40362484C>T	(Likely) benign	1 lab	e1e6953744
2:1638075 PXDN G>A	2	1638075	1638075	G	A	PXDN	c.4341C>T	NM_012293.2	NP_036425.1:p.(Phe1447=)	NC_000002.11:g.1638075G>A	(Likely) benign	1 lab	e1e77af41a
18:21125013 NPC1 C>T	18	21125013	21125013	C	T	NPC1	c.1858G>A	NM_000271.4	NP_000262.2:p.(Asp620Asn)	NC_000018.9:g.21125013C>T	VUS	1 lab	e1e7dfbbee
2:219301936 VIL1 C>T	2	219301936	219301936	C	T	VIL1	c.2061C>T	NM_007127.2	NP_009058.2:p.(Ser687=)	NC_000002.11:g.219301936C>T	(Likely) benign	1 lab	e1e920beda
22:43739218 SCUBE1 C>A	22	43739218	43739218	C	A	SCUBE1	c.50G>T	NM_173050.3	NP_766638.2:p.(Gly17Val)	NC_000022.10:g.43739218C>A	(Likely) benign	1 lab	e1e955c89f
6:32007992 TNXB G>C	6	32007992	32007992	G	C	TNXB				NC_000006.11:g.32007992G>C	(Likely) benign	1 lab	61ae816b03
7:127998794 PRRT4 G>A	7	127998794	127998794	G	A	PRRT4	c.818C>T	NM_001174164.1	NP_001167635.1:p.(Pro273Leu)	NC_000007.13:g.127998794G>A	VUS	1 lab	e1eae7e16b
15:90190139 KIF7 A>AC	15	90190139	90190145	A	AC	KIF7	c.1709dup	NM_198525.2	NP_940927.2:p.(Ala571CysfsTer18)	NC_000015.9:g.90190145dup	(Likely) pathogenic	1 lab	e1ebd0f6a5
1:103471422 COL11A1 G>A	1	103471422	103471422	G	A	COL11A1	c.1853C>T	NM_080629.2	NP_542196.2:p.(Pro618Leu)	NC_000001.10:g.103471422G>A	VUS	1 lab	e1ebfb7b06
2:152534474 NEB A>C	2	152534474	152534474	A	C	NEB	c.3483T>G	NM_001271208.1	NP_001258137.1:p.(Tyr1161Ter)	NC_000002.11:g.152534474A>C	(Likely) pathogenic	1 lab	e1ec7633c5
16:88791455 PIEZO1 C>T	16	88791455	88791455	C	T	PIEZO1	c.4196G>A	NM_001142864.4	NP_001136336.2:p.(Arg1399Gln)	NC_000016.9:g.88791455C>T	VUS	1 lab	e1ed31c5a4
6:154520968 IPCEF1 A>C	6	154520968	154520968	A	C	IPCEF1	c.744T>G	NM_001130699.1	NP_001124171.1:p.(Pro248=)	NC_000006.11:g.154520968A>C	(Likely) benign	1 lab	e1f02769a2
9:138714274 CAMSAP1 T>C	9	138714274	138714274	T	C	CAMSAP1	c.2233A>G	NM_015447.4	NP_056262.3:p.(Ile745Val)	NC_000009.11:g.138714274T>C	(Likely) benign	1 lab	e1f141e789
17:29556420 NF1 G>GTACCCAATGC	17	29556420	29556423	G	GTACCCAATGC	NF1	c.2789_2790insCCCAATGCTA	NM_000267.3	NP_000258.1:p.(Phe934SerfsTer5)	NC_000017.10:g.29556422_29556423insCCCAATGCTA	(Likely) pathogenic	1 lab	e1f35d2a89
17:29556257 NF1 G>GTTCTA	17	29556257	29556263	G	GTTCTA	NF1	c.2626_2630dup	NM_000267.3	NP_000258.1:p.(Met877IlefsTer3)	NC_000017.10:g.29556259_29556263dup	(Likely) pathogenic	1 lab	e1f3634865
7:149482645 SSPOP C>A	7	149482645	149482645	C	A	SSPOP	n.3072C>A	NR_163594.1		NC_000007.13:g.149482645C>A	VUS	1 lab	d179272e50
7:80290473 CD36 C>G	7	80290473	80290473	C	G	CD36	c.376C>G	NM_001001548.2	NP_001001548.1:p.(Leu126Val)	NC_000007.13:g.80290473C>G	(Likely) benign	1 lab	e1f43908b8
1:160011706 KCNJ10 C>G	1	160011706	160011706	C	G	KCNJ10	c.617G>C	NM_002241.4	NP_002232.2:p.(Ser206Thr)	NC_000001.10:g.160011706C>G	VUS	1 lab	e1f49d4be2
11:17574927 OTOG C>G	11	17574927	17574927	C	G	OTOG	c.437C>G	NM_001277269.1	NP_001264198.1:p.(Pro146Arg)	NC_000011.9:g.17574927C>G	VUS	1 lab	e1f6a4a44b
10:69902742 MYPN C>T	10	69902742	69902742	C	T	MYPN	c.948C>T	NM_032578.3	NP_115967.2:p.(His316=)	NC_000010.10:g.69902742C>T	(Likely) benign	1 lab	e1fb3f3863
16:3817739 CREBBP A>G	16	3817739	3817739	A	G	CREBBP	c.3232T>C	NM_004380.2	NP_004371.2:p.(Ser1078Pro)	NC_000016.9:g.3817739A>G	VUS	1 lab	e1fc9aa4db
13:51503630 RNASEH2B G>A	13	51503630	51503630	G	A	RNASEH2B	c.156G>A	NM_024570.3	NP_078846.2:p.(Leu52=)	NC_000013.10:g.51503630G>A	(Likely) benign	1 lab	e1fcb91270
15:76005052 CSPG4 G>T	15	76005052	76005052	G	T	CSPG4	c.45C>A	NM_001897.5	NP_001888.2:p.(Ala15=)	NC_000015.9:g.76005052G>T	(Likely) benign	1 lab	e20048a393
2:74600059 DCTN1 G>C	2	74600059	74600059	G	C	DCTN1	c.449C>G	NM_004082.4	NP_004073.2:p.(Pro150Arg)	NC_000002.11:g.74600059G>C	VUS	1 lab	e200fbbc8b
20:31671451 BPIFB4 C>T	20	31671451	31671451	C	T	BPIFB4	c.448C>T	NM_182519.2	NP_872325.2:p.(Arg150Ter)	NC_000020.10:g.31671451C>T	VUS	1 lab	e2011f9c3f
3:41266818 CTNNB1 A>T	3	41266818	41266818	A	T	CTNNB1	c.496-7A>T	NM_001904.3	NP_001895.1:p.?	NC_000003.11:g.41266818A>T	(Likely) benign	1 lab	e201aff2da
X:21875648 YY2 A>G	X	21875648	21875648	A	G	YY2	c.1046A>G	NM_206923.3	NP_996806.2:p.(Asn349Ser)	NC_000023.10:g.21875648A>G	VUS	1 lab	e20209c10d
3:65970108 MISSING C>Alt too long to show for this DUP	3	65970108	66131499	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.65970109_66131499dup	VUS	1 lab	b364ae5541
3:133119306 BFSP2 C>G	3	133119306	133119306	C	G	BFSP2	c.379C>G	NM_003571.3	NP_003562.1:p.(Gln127Glu)	NC_000003.11:g.133119306C>G	(Likely) benign	1 lab	e2027a8178
17:29588726 NF1 T>G	17	29588726	29588726	T	G	NF1	c.4515-3T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29588726T>G	(Likely) pathogenic	1 lab	e2029d5a6b
X:100911240 ARMCX2 C>T	X	100911240	100911240	C	T	ARMCX2	c.1335G>A	NM_177949.3	NP_808818.1:p.(Lys445=)	NC_000023.10:g.100911240C>T	(Likely) benign	1 lab	e2033a4e63
8:25293974 KCTD9 C>A	8	25293974	25293974	C	A	KCTD9	c.527G>T	NM_017634.4	NP_060104.2:p.(Gly176Val)	NC_000008.10:g.25293974C>A	VUS	1 lab	e2037e4243
6:73879503 KCNQ5 T>C	6	73879503	73879503	T	C	KCNQ5	c.1560T>C	NM_001160133.1	NP_001153605.1:p.(Asp520=)	NC_000006.11:g.73879503T>C	(Likely) benign	1 lab	e2047917d2
9:137534122 COL5A1 C>T	9	137534122	137534122	C	T	COL5A1	c.89C>T	NM_000093.4	NP_000084.3:p.(Ala30Val)	NC_000009.11:g.137534122C>T	(Likely) benign	1 lab	e2057545d0
2:202498163 TMEM237 A>G	2	202498163	202498163	A	G	TMEM237	c.251-9T>C	NM_152388.3	NP_689601.2:p.?	NC_000002.11:g.202498163A>G	(Likely) benign	1 lab	e2071e3366
2:179439647 TTN C>G	2	179439647	179439647	C	G	TTN	c.71212G>C	NM_001267550.1	NP_001254479.1:p.(Glu23738Gln)	NC_000002.11:g.179439647C>G	VUS	1 lab	e207b6db56
15:57384061 TCF12 A>G	15	57384061	57384061	A	G	TCF12	c.297A>G	NM_207037.1	NP_996920.1:p.(Pro99=)	NC_000015.9:g.57384061A>G	(Likely) benign	1 lab	e20a0f8e40
10:72358532 PRF1 C>T	10	72358532	72358532	C	T	PRF1	c.945G>A	NM_001083116.1	NP_001076585.1:p.(Leu315=)	NC_000010.10:g.72358532C>T	(Likely) benign	1 lab	e20a5da8db
X:118223144 KIAA1210 G>T	X	118223144	118223144	G	T	KIAA1210	c.2049C>A	NM_020721.1	NP_065772.1:p.(Ala683=)	NC_000023.10:g.118223144G>T	(Likely) benign	1 lab	e20ce1e6d4
19:9057211 MUC16 T>A	19	9057211	9057211	T	A	MUC16	c.30235A>T	NM_024690.2	NP_078966.2:p.(Thr10079Ser)	NC_000019.9:g.9057211T>A	(Likely) benign	1 lab	e20f3f757d
5:71530025 MRPS27 C>T	5	71530025	71530025	C	T	MRPS27	c.439-1G>A	NM_001286748.1	NP_001273677.1:p.?	NC_000005.9:g.71530025C>T	VUS	1 lab	e21077f77e
19:46144929 EML2 G>C	19	46144929	46144929	G	C	EML2	c.593C>G	NM_001193268.2	NP_001180197.1:p.(Ser198Cys)	NC_000019.9:g.46144929G>C	VUS	1 lab	e210d80035
2:234676395 UGT1A1 G>GGT	2	234676395	234676396	G	GGT	UGT1A1	c.997-100_997-99insGT	NM_000463.2	NP_000454.1:p.?	NC_000002.11:g.234676395_234676396insGT	(Likely) benign	1 lab	e21158455a
17:11650998 DNAH9 C>T	17	11650998	11650998	C	T	DNAH9	c.6525C>T	NM_001372.3	NP_001363.2:p.(Pro2175=)	NC_000017.10:g.11650998C>T	(Likely) benign	1 lab	e2127e9e7f
3:123428579 MYLK CAA>C	3	123428579	123428581	CAA	C	MYLK	c.1942+22_1942+23del	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123428580_123428581del	(Likely) benign	1 lab	e212a80fc9
X:49218392 GAGE12I C>T	X	49218392	49218392	C	T	GAGE12I	c.157C>T	NM_001477.1	NP_001468.1:p.(Pro53Ser)	NC_000023.10:g.49218392C>T	VUS	1 lab	e213fe9aab
22:34046596 LARGE1 C>G	22	34046596	34046596	C	G	LARGE1	c.165G>C	NM_004737.5	NP_004728.1:p.(Thr55=)	NC_000022.10:g.34046596C>G	(Likely) benign	1 lab	e214c08ab2
4:186446260 PDLIM3 G>A	4	186446260	186446260	G	A	PDLIM3	c.159C>T	NM_014476.5	NP_055291.2:p.(Asp53=)	NC_000004.11:g.186446260G>A	(Likely) benign	1 lab	e216508f54
17:29508730 NF1 AT>A	17	29508730	29508734	AT	A	NF1	c.661del	NM_001042492.3	NP_001035957.1:p.(Trp221GlyfsTer4)	NC_000017.10:g.29508734del	(Likely) pathogenic	1 lab	e21749279a
16:57486832 COQ9 T>C	16	57486832	57486832	T	C	COQ9	c.362T>C	NM_020312.3	NP_064708.1:p.(Ile121Thr)	NC_000016.9:g.57486832T>C	VUS	1 lab	e218230744
1:16375069 CLCNKB C>T	1	16375069	16375069	C	T	CLCNKB	c.647C>T	NM_000085.4	NP_000076.2:p.(Pro216Leu)	NC_000001.10:g.16375069C>T	VUS	1 lab	e21b4a6657
6:160485912 IGF2R A>G	6	160485912	160485912	A	G	IGF2R	c.4094A>G	NM_000876.3	NP_000867.2:p.(Asp1365Gly)	NC_000006.11:g.160485912A>G	(Likely) benign	1 lab	e21c3cf00a
21:45657075 ICOSLG C>T	21	45657075	45657075	C	T	ICOSLG	c.81G>A	NM_015259.5	NP_056074.1:p.(Ala27=)	NC_000021.8:g.45657075C>T	(Likely) benign	1 lab	e21e04bde9
17:7722533 DNAH2 C>T	17	7722533	7722533	C	T	DNAH2	c.10822C>T	NM_020877.3	NP_065928.2:p.(Arg3608Cys)	NC_000017.10:g.7722533C>T	VUS	1 lab	e21e5e3d15
16:85695279 GSE1 C>T	16	85695279	85695279	C	T	GSE1	c.2168C>T	NM_014615.4	NP_055430.1:p.(Ala723Val)	NC_000016.9:g.85695279C>T	(Likely) benign	1 lab	e21ed0b91e
16:21279030 CRYM T>C	16	21279030	21279030	T	C	CRYM	c.518A>G	NM_001888.4	NP_001879.1:p.(Asn173Ser)	NC_000016.9:g.21279030T>C	VUS	1 lab	e21fabed17
19:12758153 MAN2B1 C>T	19	12758153	12758153	C	T	MAN2B1	c.2821-4G>A	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12758153C>T	(Likely) benign	1 lab	e220fe71cd
12:66704198 HELB A>G	12	66704198	66704198	A	G	HELB	c.1490A>G	NM_033647.4	NP_387467.2:p.(Glu497Gly)	NC_000012.11:g.66704198A>G	(Likely) benign	1 lab	e221471aa6
1:228345543 GJC2 C>A	1	228345543	228345543	C	A	GJC2	c.84C>A	NM_020435.3	NP_065168.2:p.(Leu28=)	NC_000001.10:g.228345543C>A	(Likely) benign	1 lab	e221d44647
9:14846026 FREM1 T>C	9	14846026	14846026	T	C	FREM1	c.1325A>G	NM_144966.5	NP_659403.4:p.(Asn442Ser)	NC_000009.11:g.14846026T>C	VUS	1 lab	e223695769
2:170338809 BBS5 C>T	2	170338809	170338809	C	T	BBS5	c.108C>T	NM_152384.2	NP_689597.1:p.(Ser36=)	NC_000002.11:g.170338809C>T	(Likely) benign	1 lab	e2238ca84f
21:26647107 MISSING T>Alt too long to show for this DUP	21	26647107	27220154	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.26647108_27220154dup	VUS	1 lab	1098e13e14
16:89341221 ANKRD11 C>T	16	89341221	89341221	C	T	ANKRD11	c.7713+1G>A	NM_001256182.1	NP_001243111.1:p.?	NC_000016.9:g.89341221C>T	(Likely) pathogenic	1 lab	e225f09a9f
11:73748678 C2CD3 A>G	11	73748678	73748678	A	G	C2CD3	c.5726T>C	NM_001286577.1	NP_001273506.1:p.(Leu1909Pro)	NC_000011.9:g.73748678A>G	(Likely) benign	1 lab	e2266f2c1f
2:107040232 RGPD3 C>T	2	107040232	107040232	C	T	RGPD3	c.4191G>A	NM_001144013.1	NP_001137485.1:p.(Met1397Ile)	NC_000002.11:g.107040232C>T	VUS	1 lab	e226848a93
10:101689561 DNMBP C>A	10	101689561	101689561	C	A	DNMBP	c.960G>T	NM_001318326.1	NP_001305255.1:p.(Gln320His)	NC_000010.10:g.101689561C>A	(Likely) benign	1 lab	e22732c806
2:112786313 MERTK C>T	2	112786313	112786313	C	T	MERTK	c.2872C>T	NM_006343.2	NP_006334.2:p.(Pro958Ser)	NC_000002.11:g.112786313C>T	VUS	1 lab	e22898b4f6
X:47306889 ZNF41 C>T	X	47306889	47306889	C	T	ZNF41	c.2280G>A	NM_007130.3	NP_009061.1:p.(Ser760=)	NC_000023.10:g.47306889C>T	(Likely) benign	1 lab	e2294d2c51
2:202593836 ALS2 C>T	2	202593836	202593836	C	T	ALS2	c.2651G>A	NM_020919.3	NP_065970.2:p.(Arg884Lys)	NC_000002.11:g.202593836C>T	(Likely) benign	1 lab	e2298f1e56
X:153047663 SRPK3 C>T	X	153047663	153047663	C	T	SRPK3	c.475C>T	NM_014370.3	NP_055185.2:p.(His159Tyr)	NC_000023.10:g.153047663C>T	VUS	1 lab	e22c4810b7
6:86256841 SNX14 C>A	6	86256841	86256841	C	A	SNX14	c.1160G>T	NM_001350532.1	NP_001337461.1:p.(Cys387Phe)	NC_000006.11:g.86256841C>A	VUS	1 lab	e22e706fa1
19:3902505 ATCAY G>A	19	3902505	3902505	G	A	ATCAY	c.98G>A	NM_033064.4	NP_149053.1:p.(Gly33Glu)	NC_000019.9:g.3902505G>A	VUS	1 lab	e22e7469ef
1:237948245 RYR2 C>T	1	237948245	237948245	C	T	RYR2	c.13233C>T	NM_001035.2	NP_001026.2:p.(Pro4411=)	NC_000001.10:g.237948245C>T	(Likely) benign	1 lab	e230ad160a
10:126681350 CTBP2 C>G	10	126681350	126681350	C	G	CTBP2	c.2691G>C	NM_022802.3	NP_073713.2:p.(Val897=)	NC_000010.10:g.126681350C>G	(Likely) benign	1 lab	e231129080
X:105131040 MISSING C>Alt too long to show for this DUP	X	105131040	105680622	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.105131041_105680622dup	VUS	1 lab	51c9dff37b
7:42088262 GLI3 C>T	7	42088262	42088262	C	T	GLI3	c.507G>A	NM_000168.5	NP_000159.3:p.(Pro169=)	NC_000007.13:g.42088262C>T	VUS	1 lab	e234efdae7
16:31097770 PRSS53 C>T	16	31097770	31097770	C	T	PRSS53	c.551G>A	NM_001039503.2	NP_001034592.1:p.(Arg184His)	NC_000016.9:g.31097770C>T	VUS	1 lab	e235489dcc
22:19864644 TXNRD2 G>C	22	19864644	19864644	G	C	TXNRD2	c.1559C>G	NM_006440.3	NP_006431.2:p.(Thr520Arg)	NC_000022.10:g.19864644G>C	VUS	1 lab	e2355ec654
4:126242519 FAT4 A>G	4	126242519	126242519	A	G	FAT4	c.4953A>G	NM_024582.4	NP_078858.4:p.(Ile1651Met)	NC_000004.11:g.126242519A>G	VUS	1 lab	e236234f01
17:10546239 MYH3 G>A	17	10546239	10546239	G	A	MYH3	c.1485C>T	NM_002470.3	NP_002461.2:p.(Phe495=)	NC_000017.10:g.10546239G>A	(Likely) benign	1 lab	e23b82ba53
X:30577925 TASL C>T	X	30577925	30577925	C	T	TASL	c.548G>A	NM_025159.2	NP_079435.1:p.(Arg183Gln)	NC_000023.10:g.30577925C>T	(Likely) benign	1 lab	e241ff036b
18:33779671 MOCOS G>A	18	33779671	33779671	G	A	MOCOS	c.325G>A	NM_017947.3	NP_060417.3:p.(Ala109Thr)	NC_000018.9:g.33779671G>A	(Likely) benign	1 lab	e2426fa925
16:31193847 FUS C>T	16	31193847	31193847	C	T	FUS	c.52C>T	NM_004960.3	NP_004951.1:p.(Pro18Ser)	NC_000016.9:g.31193847C>T	VUS	1 lab	e2433d75df
1:114444485 AP4B1 T>C	1	114444485	114444485	T	C	AP4B1	c.361A>G	NM_006594.4	NP_006585.2:p.(Ile121Val)	NC_000001.10:g.114444485T>C	(Likely) benign	1 lab	e245138c65
X:63445033 ASB12 G>A	X	63445033	63445033	G	A	ASB12	c.498C>T	NM_130388.3	NP_569059.3:p.(Asn166=)	NC_000023.10:g.63445033G>A	(Likely) benign	1 lab	e247292fbc
17:73898127 MRPL38 T>C	17	73898127	73898127	T	C	MRPL38	c.356A>G	NM_032478.3	NP_115867.2:p.(Glu119Gly)	NC_000017.10:g.73898127T>C	VUS	1 lab	e2479a658b
17:4436429 SPNS2 G>A	17	4436429	4436429	G	A	SPNS2	c.1088+5G>A	NM_001124758.3	NP_001118230.1:p.?	NC_000017.10:g.4436429G>A	VUS	1 lab	e2479bd508
19:16593189 CALR3 CAACAA>C	19	16593189	16593218	CAACAA	C	CALR3	c.918+67_918+71del	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16593214_16593218del	(Likely) benign	1 lab	e247cdab16
20:61869777 BIRC7 G>A	20	61869777	61869777	G	A	BIRC7	c.479G>A	NM_139317.2	NP_647478.1:p.(Arg160Lys)	NC_000020.10:g.61869777G>A	(Likely) benign	1 lab	e24b391a46
4:74270112 ALB G>A	4	74270112	74270112	G	A	ALB	c.68G>A	NM_000477.6	NP_000468.1:p.(Arg23His)	NC_000004.11:g.74270112G>A	VUS	1 lab	e24d2caf29
2:241969905 SNED1 G>A	2	241969905	241969905	G	A	SNED1	c.418G>A	NM_001080437.3	NP_001073906.1:p.(Glu140Lys)	NC_000002.11:g.241969905G>A	VUS	1 lab	e24d799e38
5:34880285 TTC23L G>T	5	34880285	34880285	G	T	TTC23L	c.977-1G>T	NM_001317949.1	NP_001304878.1:p.?	NC_000005.9:g.34880285G>T	VUS	1 lab	e24dbaad28
7:94055119 COL1A2 C>T	7	94055119	94055119	C	T	COL1A2	c.2893C>T	NM_000089.3	NP_000080.2:p.(Pro965Ser)	NC_000007.13:g.94055119C>T	VUS	1 lab	e24dcb99a9
4:9250792 USP17L18 C>A	4	9250792	9250792	C	A	USP17L18	c.437C>A	NM_001256859.1	NP_001243788.1:p.(Ser146Ter)	NC_000004.11:g.9250792C>A	(Likely) benign	1 lab	e24e54057a
2:219857879 CRYBA2 G>T	2	219857879	219857879	G	T	CRYBA2	c.20C>A	NM_057093.2	NP_476434.1:p.(Pro7Gln)	NC_000002.11:g.219857879G>T	(Likely) benign	1 lab	e25044bfaf
11:18333007 HPS5 C>G	11	18333007	18333007	C	G	HPS5	c.220-9G>C	NM_181507.1	NP_852608.1:p.?	NC_000011.9:g.18333007C>G	(Likely) benign	1 lab	e25058fb76
16:17232350 XYLT1 G>A	16	17232350	17232350	G	A	XYLT1	c.1626C>T	NM_022166.3	NP_071449.1:p.(Cys542=)	NC_000016.9:g.17232350G>A	(Likely) benign	1 lab	e2510d8833
8:145004684 PLEC G>A	8	145004684	145004684	G	A	PLEC	c.2736C>T	NM_201380.3	NP_958782.1:p.(Asn912=)	NC_000008.10:g.145004684G>A	(Likely) benign	1 lab	e25248fe49
17:76121279 TMC6 G>A	17	76121279	76121279	G	A	TMC6	c.496C>T	NM_001127198.2	NP_001120670.1:p.(Arg166Cys)	NC_000017.10:g.76121279G>A	VUS	1 lab	e2525e2bed
X:153692385 PLXNA3 A>G	X	153692385	153692385	A	G	PLXNA3	c.1639A>G	NM_017514.4	NP_059984.3:p.(Asn547Asp)	NC_000023.10:g.153692385A>G	(Likely) benign	1 lab	e253bc397f
6:159420772 RSPH3 C>G	6	159420772	159420772	C	G	RSPH3	c.237G>C	NM_031924.5	NP_114130.3:p.(Glu79Asp)	NC_000006.11:g.159420772C>G	(Likely) benign	1 lab	e254747fc2
12:109967764 UBE3B C>A	12	109967764	109967764	C	A	UBE3B	c.2697C>A	NM_130466.3	NP_569733.2:p.(Leu899=)	NC_000012.11:g.109967764C>A	(Likely) benign	1 lab	e256b63596
16:15818847 MYH11 A>G	16	15818847	15818847	A	G	MYH11	c.3882T>C	NM_001040113.1	NP_001035202.1:p.(Asn1294=)	NC_000016.9:g.15818847A>G	(Likely) benign	1 lab	e257955171
11:121461593 SORL1 G>C	11	121461593	121461593	G	C	SORL1	c.4214-117G>C	NM_003105.5	NP_003096.1:p.?	NC_000011.9:g.121461593G>C	(Likely) benign	1 lab	e257f0e5c3
3:52183824 POC1A C>T	3	52183824	52183824	C	T	POC1A	c.161+8G>A	NM_001161581.1	NP_001155053.1:p.?	NC_000003.11:g.52183824C>T	(Likely) benign	1 lab	e258f457a1
12:21995296 ABCC9 A>G	12	21995296	21995296	A	G	ABCC9	c.3425T>C	NM_020297.2	NP_064693.2:p.(Leu1142Pro)	NC_000012.11:g.21995296A>G	VUS	1 lab	e2599bcf66
19:48814825 ODAD1 G>A	19	48814825	48814825	G	A	ODAD1	c.471C>T	NM_144577.4	NP_653178.3:p.(Asp157=)	NC_000019.9:g.48814825G>A	(Likely) benign	1 lab	e25a679fd1
X:73962552 NEXMIF G>A	X	73962552	73962552	G	A	NEXMIF	c.1840C>T	NM_001008537.2	NP_001008537.1:p.(Pro614Ser)	NC_000023.10:g.73962552G>A	(Likely) benign	1 lab	e25a7701fb
11:46727139 ZNF408 G>A	11	46727139	46727139	G	A	ZNF408	c.1889G>A	NM_024741.2	NP_079017.1:p.(Arg630Gln)	NC_000011.9:g.46727139G>A	(Likely) benign	1 lab	e25bb8f845
4:122766846 BBS7 T>C	4	122766846	122766846	T	C	BBS7	c.1043A>G	NM_176824.2	NP_789794.1:p.(Glu348Gly)	NC_000004.11:g.122766846T>C	VUS	1 lab	e25da4f9bd
10:79742486 POLR3A C>T	10	79742486	79742486	C	T	POLR3A	c.3519G>A	NM_007055.3	NP_008986.2:p.(Val1173=)	NC_000010.10:g.79742486C>T	VUS	1 lab	e2616b8e07
13:110818594 COL4A1 C>T	13	110818594	110818594	C	T	COL4A1	c.4006G>A	NM_001845.5	NP_001836.3:p.(Val1336Ile)	NC_000013.10:g.110818594C>T	(Likely) benign	1 lab	e2620ccdef
X:139585929 SOX3 C>A	X	139585929	139585929	C	A	SOX3	c.1297G>T	NM_005634.2	NP_005625.2:p.(Ala433Ser)	NC_000023.10:g.139585929C>A	VUS	1 lab	e262918442
11:117232642 CEP164 G>A	11	117232642	117232642	G	A	CEP164	c.485G>A	NM_014956.4	NP_055771.4:p.(Arg162His)	NC_000011.9:g.117232642G>A	VUS	1 lab	e26307300b
X:75003346 MAGEE2 G>A	X	75003346	75003346	G	A	MAGEE2	c.1541C>T	NM_138703.4	NP_619648.1:p.(Ala514Val)	NC_000023.10:g.75003346G>A	VUS	1 lab	e26485a1f5
18:43503263 EPG5 C>A	18	43503263	43503263	C	A	EPG5	c.2809G>T	NM_020964.3	NP_066015.2:p.(Ala937Ser)	NC_000018.9:g.43503263C>A	(Likely) benign	1 lab	e265e5b455
2:179458183 TTN A>G	2	179458183	179458183	A	G	TTN	c.58752T>C	NM_001267550.1	NP_001254479.1:p.(Asp19584=)	NC_000002.11:g.179458183A>G	(Likely) benign	1 lab	e266fcbf83
6:35287626 DEF6 G>A	6	35287626	35287626	G	A	DEF6	c.1413G>A	NM_022047.4	NP_071330.3:p.(Lys471=)	NC_000006.11:g.35287626G>A	(Likely) benign	1 lab	e268e8f9df
15:38591634 SPRED1 G>T	15	38591634	38591634	G	T	SPRED1	c.93G>T	NM_152594.2	NP_689807.1:p.(Trp31Cys)	NC_000015.9:g.38591634G>T	(Likely) pathogenic	1 lab	e26a95578b
19:613374 HCN2 A>C	19	613374	613374	A	C	HCN2	c.1711A>C	NM_001194.3	NP_001185.3:p.(Ile571Leu)	NC_000019.9:g.613374A>C	VUS	1 lab	2272f0f9f7
X:11157210 ARHGAP6 G>A	X	11157210	11157210	G	A	ARHGAP6	c.2698C>T	NM_013427.2	NP_038286.2:p.(Pro900Ser)	NC_000023.10:g.11157210G>A	(Likely) benign	1 lab	e26b1f7e8d
17:41256126 BRCA1 C>T	17	41256126	41256126	C	T	BRCA1	c.441+13G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256126C>T	(Likely) benign	1 lab	e26e242de8
2:189849464 COL3A1 C>T	2	189849464	189849464	C	T	COL3A1	c.80-22C>T	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189849464C>T	(Likely) benign	1 lab	e26e5ab1d2
15:34546593 SLC12A6 G>C	15	34546593	34546593	G	C	SLC12A6	c.1047C>G	NM_001042496.1	NP_001035961.1:p.(Ile349Met)	NC_000015.9:g.34546593G>C	VUS	1 lab	e26e5e79c2
11:17617599 OTOG C>T	11	17617599	17617599	C	T	OTOG	c.3459C>T	NM_001277269.1	NP_001264198.1:p.(Leu1153=)	NC_000011.9:g.17617599C>T	(Likely) benign	1 lab	e26e8266fb
17:27910525 GIT1 G>A	17	27910525	27910525	G	A	GIT1	c.162C>T	NM_001085454.1	NP_001078923.1:p.(Ser54=)	NC_000017.10:g.27910525G>A	(Likely) benign	1 lab	e26ee0c5e2
2:239237408 TRAF3IP1 T>C	2	239237408	239237408	T	C	TRAF3IP1	c.436T>C	NM_015650.3	NP_056465.2:p.(Ser146Pro)	NC_000002.11:g.239237408T>C	VUS	1 lab	e271ea3e47
3:41266856 CTNNB1 A>C	3	41266856	41266856	A	C	CTNNB1	c.527A>C	NM_001904.3	NP_001895.1:p.(His176Pro)	NC_000003.11:g.41266856A>C	VUS	1 lab	e271eaafa9
6:33408559 SYNGAP1 C>T	6	33408559	33408559	C	T	SYNGAP1	c.1730C>T	NM_006772.2	NP_006763.2:p.(Ala577Val)	NC_000006.11:g.33408559C>T	VUS	1 lab	e272785937
12:122862287 CLIP1 C>T	12	122862287	122862287	C	T	CLIP1	c.306G>A	NM_001247997.1	NP_001234926.1:p.(Ser102=)	NC_000012.11:g.122862287C>T	(Likely) benign	1 lab	e273840397
9:123787855 C5 T>C	9	123787855	123787855	T	C	C5	c.895A>G	NM_001317163.1	NP_001304092.1:p.(Ile299Val)	NC_000009.11:g.123787855T>C	VUS	1 lab	e2739155e3
2:74596351 DCTN1 G>T	2	74596351	74596351	G	T	DCTN1	c.1585-10C>A	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74596351G>T	(Likely) benign	1 lab	e274658fb9
16:89258825 CDH15 G>C	16	89258825	89258825	G	C	CDH15	c.1828G>C	NM_004933.2	NP_004924.1:p.(Val610Leu)	NC_000016.9:g.89258825G>C	(Likely) benign	1 lab	e274732d12
12:44913920 NELL2 GAC>G	12	44913920	44913925	GAC	G	NELL2	c.2266_2267del	NM_001145108.2	NP_001138580.1:p.(Val756HisfsTer7)	NC_000012.11:g.44913924_44913925del	VUS	1 lab	e27718d256
1:200522628 KIF14 C>T	1	200522628	200522628	C	T	KIF14	c.4835G>A	NM_014875.2	NP_055690.1:p.(Gly1612Glu)	NC_000001.10:g.200522628C>T	(Likely) benign	1 lab	e27765c639
5:176678873 NSD1 G>A	5	176678873	176678873	G	A	NSD1	c.4765+19G>A	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176678873G>A	(Likely) benign	1 lab	e2793b174d
1:6314044 GPR153 C>T	1	6314044	6314044	C	T	GPR153	c.520G>A	NM_207370.3	NP_997253.2:p.(Val174Ile)	NC_000001.10:g.6314044C>T	VUS	1 lab	e27a57de91
7:100691344 MUC17 C>T	7	100691344	100691344	C	T	MUC17	c.12483C>T	NM_001040105.1	NP_001035194.1:p.(Pro4161=)	NC_000007.13:g.100691344C>T	(Likely) benign	1 lab	e27c1ab663
X:40371841 MISSING T>Alt too long to show for this DUP	X	40371841	40491329	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.40371842_40491329dup	VUS	1 lab	61e4adf749
1:216019242 USH2A A>G	1	216019242	216019242	A	G	USH2A	c.8979T>C	NM_206933.2	NP_996816.2:p.(Tyr2993=)	NC_000001.10:g.216019242A>G	(Likely) benign	1 lab	e27dbab188
5:90052268 ADGRV1 C>CCA	5	90052268	90052269	C	CCA	ADGRV1	c.11581-3_11581-2insCA	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90052268_90052269insCA	(Likely) benign	1 lab	e27e822fd3
13:110813606 COL4A1 T>C	13	110813606	110813606	T	C	COL4A1	c.4573A>G	NM_001845.5	NP_001836.3:p.(Thr1525Ala)	NC_000013.10:g.110813606T>C	VUS	1 lab	e27fba8a62
15:90173584 KIF7 G>A	15	90173584	90173584	G	A	KIF7	c.3252C>T	NM_198525.2	NP_940927.2:p.(Leu1084=)	NC_000015.9:g.90173584G>A	(Likely) benign	1 lab	e2809e1118
3:52023018 ACY1 TC>T	3	52023018	52023020	TC	T	ACY1	c.1156del	NM_000666.3	NP_000657.1:p.(Arg386ValfsTer29)	NC_000003.11:g.52023020del	VUS	1 lab	e28289c741
11:66475761 SPTBN2 G>A	11	66475761	66475761	G	A	SPTBN2	c.1201C>T	NM_006946.3	NP_008877.1:p.(Arg401Trp)	NC_000011.9:g.66475761G>A	VUS	1 lab	e282d015bc
5:140262850 PCDHA13 C>G	5	140262850	140262850	C	G	PCDHA13	c.997C>G	NM_018904.3	NP_061727.1:p.(His333Asp)	NC_000005.9:g.140262850C>G	VUS	1 lab	e28603f676
19:40882548 PLD3 G>A	19	40882548	40882548	G	A	PLD3	c.1052G>A	NM_012268.3	NP_036400.2:p.(Arg351Gln)	NC_000019.9:g.40882548G>A	VUS	1 lab	e2861473e5
12:57442017 MYO1A G>A	12	57442017	57442017	G	A	MYO1A	c.91C>T	NM_001256041.1	NP_001242970.1:p.(Arg31Cys)	NC_000012.11:g.57442017G>A	VUS	1 lab	e2878f0792
7:91855896 KRIT1 C>A	7	91855896	91855896	C	A	KRIT1	c.1090G>T	NM_004912.4	NP_004903.2:p.(Gly364Ter)	NC_000007.13:g.91855896C>A	(Likely) pathogenic	1 lab	e289247e75
X:108673607 GUCY2F T>G	X	108673607	108673607	T	G	GUCY2F	c.1720A>C	NM_001522.2	NP_001513.2:p.(Lys574Gln)	NC_000023.10:g.108673607T>G	(Likely) benign	1 lab	e28a1bbf30
6:88224671 RARS2 G>A	6	88224671	88224671	G	A	RARS2	c.1650+4C>T	NM_020320.4	NP_064716.2:p.?	NC_000006.11:g.88224671G>A	(Likely) benign	1 lab	e28c195f7b
9:139888096 PAXX C>T	9	139888096	139888096	C	T	PAXX	c.555C>T	NM_183241.3	NP_899064.1:p.(Leu185=)	NC_000009.11:g.139888096C>T	(Likely) benign	1 lab	e28cceac69
14:73614748 PSEN1 G>A	14	73614748	73614748	G	A	PSEN1	c.21G>A	NM_000021.3	NP_000012.1:p.(Pro7=)	NC_000014.8:g.73614748G>A	(Likely) benign	1 lab	e28cf875af
X:131212298 FRMD7 G>C	X	131212298	131212298	G	C	FRMD7	c.1747C>G	NM_194277.2	NP_919253.1:p.(Gln583Glu)	NC_000023.10:g.131212298G>C	(Likely) benign	1 lab	e28e6726bb
17:29587417 NF1 TAC>AA	17	29587417	29587419	TAC	AA	NF1	c.4398_4400delinsAA	NM_000267.3	NP_000258.1:p.(Thr1467LysfsTer5)	NC_000017.10:g.29587417_29587419delinsAA	(Likely) pathogenic	1 lab	e28ed9e98c
1:91405681 ZNF644 G>A	1	91405681	91405681	G	A	ZNF644	c.1230C>T	NM_201269.2	NP_958357.1:p.(Tyr410=)	NC_000001.10:g.91405681G>A	(Likely) benign	1 lab	e29074a2eb
16:67314075 PLEKHG4 T>C	16	67314075	67314075	T	C	PLEKHG4	c.128T>C	NM_001129727.2	NP_001123199.1:p.(Val43Ala)	NC_000016.9:g.67314075T>C	(Likely) benign	1 lab	e291620366
6:159206367 EZR G>C	6	159206367	159206367	G	C	EZR	c.441C>G	NM_003379.4	NP_003370.2:p.(Leu147=)	NC_000006.11:g.159206367G>C	(Likely) benign	1 lab	e292a51d6f
6:38840498 DNAH8 A>C	6	38840498	38840498	A	C	DNAH8	c.7177A>C	NM_001206927.1	NP_001193856.1:p.(Asn2393His)	NC_000006.11:g.38840498A>C	VUS	1 lab	e292b9ab67
17:41249324 BRCA1 A>C	17	41249324	41249324	A	C	BRCA1	c.548-18T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249324A>C	(Likely) benign	1 lab	e293305580
X:153583413 FLNA A>G	X	153583413	153583413	A	G	FLNA	c.4997T>C	NM_001110556.2	NP_001104026.1:p.(Ile1666Thr)	NC_000023.10:g.153583413A>G	VUS	1 lab	e29330999a
16:49672770 ZNF423 G>C	16	49672770	49672770	G	C	ZNF423	c.113C>G	NM_001271620.2	NP_001258549.1:p.(Pro38Arg)	NC_000016.9:g.49672770G>C	VUS	1 lab	e293a1006b
X:54494353 FGD1 G>A	X	54494353	54494353	G	A	FGD1	c.1204C>T	NM_004463.2	NP_004454.2:p.(Arg402Trp)	NC_000023.10:g.54494353G>A	(Likely) pathogenic	1 lab	e295244dfe
14:24567504 PCK2 C>T	14	24567504	24567504	C	T	PCK2	c.368C>T	NM_004563.3	NP_004554.3:p.(Pro123Leu)	NC_000014.8:g.24567504C>T	(Likely) benign	1 lab	e296185cdc
X:83129227 CYLC1 G>T	X	83129227	83129227	G	T	CYLC1	c.1511G>T	NM_021118.2	NP_066941.1:p.(Gly504Val)	NC_000023.10:g.83129227G>T	(Likely) benign	1 lab	e296be9c80
5:13891201 DNAH5 T>C	5	13891201	13891201	T	C	DNAH5	c.2461A>G	NM_001369.2	NP_001360.1:p.(Asn821Asp)	NC_000005.9:g.13891201T>C	(Likely) benign	1 lab	e29859be8e
X:18671654 CDKL5 C>T	X	18671654	18671654	C	T	CDKL5	c.3083C>T	NM_003159.2	NP_003150.1:p.(Thr1028Met)	NC_000023.10:g.18671654C>T	(Likely) benign	1 lab	e2995155d3
19:1004511 GRIN3B T>C	19	1004511	1004511	T	C	GRIN3B	c.1020-9T>C	NM_138690.2	NP_619635.1:p.?	NC_000019.9:g.1004511T>C	(Likely) benign	1 lab	e29c3b11f6
3:184044764 EIF4G1 G>A	3	184044764	184044764	G	A	EIF4G1	c.3424G>A	NM_182917.4	NP_886553.3:p.(Val1142Met)	NC_000003.11:g.184044764G>A	(Likely) benign	1 lab	e29c6df88e
8:133899480 TG G>A	8	133899480	133899480	G	A	TG	c.1863G>A	NM_003235.4	NP_003226.4:p.(Thr621=)	NC_000008.10:g.133899480G>A	(Likely) benign	1 lab	e29c723e70
9:139751207 MAMDC4 G>A	9	139751207	139751207	G	A	MAMDC4	c.1766G>A	NM_206920.3	NP_996803.2:p.(Gly589Asp)	NC_000009.11:g.139751207G>A	(Likely) benign	1 lab	e29ceefd02
6:7562894 DSP G>GT	6	7562894	7562895	G	GT	DSP	c.607_608insT	NM_004415.2	NP_004406.2:p.(Asp203ValfsTer17)	NC_000006.11:g.7562894_7562895insT	(Likely) pathogenic	1 lab	e29e3fbc17
12:113355393 OAS1 G>A	12	113355393	113355393	G	A	OAS1	c.926G>A	NM_016816.3	NP_058132.2:p.(Gly309Asp)	NC_000012.11:g.113355393G>A	VUS	1 lab	e29f328eb7
16:77325228 ADAMTS18 G>A	16	77325228	77325228	G	A	ADAMTS18	c.2821C>T	NM_001326358.1	NP_001313287.1:p.(Arg941Trp)	NC_000016.9:g.77325228G>A	VUS	1 lab	e2a371014d
1:2985845 PRDM16 A>T	1	2985845	2985845	A	T	PRDM16	c.22A>T	NM_022114.3	NP_071397.3:p.(Arg8Trp)	NC_000001.10:g.2985845A>T	VUS	1 lab	e2a399993c
X:215911 PLCXD1 G>A	X	215911	215911	G	A	PLCXD1	c.881G>A	NM_018390.3	NP_060860.1:p.(Arg294Gln)	NC_000023.10:g.215911G>A	(Likely) benign	1 lab	e2a3d64988
11:113934961 ZBTB16 C>T	11	113934961	113934961	C	T	ZBTB16	c.939C>T	NM_006006.5	NP_005997.2:p.(Gly313=)	NC_000011.9:g.113934961C>T	(Likely) benign	1 lab	e2a4b270ce
17:38562660 TOP2A A>C	17	38562660	38562660	A	C	TOP2A	c.1929T>G	NM_001067.3	NP_001058.2:p.(Pro643=)	NC_000017.10:g.38562660A>C	(Likely) benign	1 lab	e2a4cc14af
12:88513912 CEP290 C>A	12	88513912	88513912	C	A	CEP290	c.1501G>T	NM_025114.3	NP_079390.3:p.(Glu501Ter)	NC_000012.11:g.88513912C>A	(Likely) pathogenic	1 lab	e2a64e85be
3:47165750 SETD2 T>C	3	47165750	47165750	T	C	SETD2	c.376A>G	NM_014159.6	NP_054878.5:p.(Thr126Ala)	NC_000003.11:g.47165750T>C	(Likely) benign	1 lab	e2a7196f53
7:91867056 KRIT1 T>C	7	91867056	91867056	T	C	KRIT1	c.280A>G	NM_004912.4	NP_004903.2:p.(Met94Val)	NC_000007.13:g.91867056T>C	VUS	1 lab	e2a728d852
17:29553703 NF1 G>C	17	29553703	29553703	G	C	NF1	c.2251+1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553703G>C	(Likely) pathogenic	1 lab	e2a9136fa5
8:22272361 SLC39A14 T>C	8	22272361	22272361	T	C	SLC39A14	c.696T>C	NM_001135153.2	NP_001128625.1:p.(Tyr232=)	NC_000008.10:g.22272361T>C	(Likely) benign	1 lab	e2aa8a8e7a
16:2134482 TSC2 C>A	16	2134482	2134482	C	A	TSC2	c.4259C>A	NM_000548.3	NP_000539.2:p.(Ser1420Ter)	NC_000016.9:g.2134482C>A	(Likely) pathogenic	1 lab	e2ac7f191c
1:204944441 NFASC G>A	1	204944441	204944441	G	A	NFASC	c.1601G>A	NM_001005388.2	NP_001005388.2:p.(Arg534Lys)	NC_000001.10:g.204944441G>A	(Likely) benign	1 lab	e2acb88787
X:47084131 CDK16 C>T	X	47084131	47084131	C	T	CDK16	c.469C>T	NM_033018.3	NP_148978.2:p.(Arg157Cys)	NC_000023.10:g.47084131C>T	VUS	1 lab	e2acefecc8
X:111155722 TRPC5 C>T	X	111155722	111155722	C	T	TRPC5	c.697G>A	NM_012471.2	NP_036603.1:p.(Val233Met)	NC_000023.10:g.111155722C>T	(Likely) benign	1 lab	e2af783a9a
18:47479669 MYO5B C>G	18	47479669	47479669	C	G	MYO5B	c.1713G>C	NM_001080467.2	NP_001073936.1:p.(Thr571=)	NC_000018.9:g.47479669C>G	(Likely) benign	1 lab	e2b3b58c08
6:66053835 EYS T>G	6	66053835	66053835	T	G	EYS	c.1599+96A>C	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66053835T>G	(Likely) benign	1 lab	e2b75f57a0
2:158594947 ACVR1 C>T	2	158594947	158594947	C	T	ACVR1	c.1395+5G>A	NM_001105.4	NP_001096.1:p.?	NC_000002.11:g.158594947C>T	VUS	1 lab	e2b9728a05
2:201887610 HYCC2 G>A	2	201887610	201887610	G	A	HYCC2	c.97C>T	NM_173822.4	NP_776183.1:p.(Arg33Trp)	NC_000002.11:g.201887610G>A	VUS	1 lab	e2b9f5c22e
X:150840682 PASD1 C>T	X	150840682	150840682	C	T	PASD1	c.1465C>T	NM_173493.2	NP_775764.2:p.(Leu489=)	NC_000023.10:g.150840682C>T	(Likely) benign	1 lab	e2bad1f50e
14:103438431 CDC42BPB C>T	14	103438431	103438431	C	T	CDC42BPB	c.1709G>A	NM_006035.4	NP_006026.3:p.(Arg570Gln)	NC_000014.8:g.103438431C>T	VUS	1 lab	e2bbfa4f99
7:45717554 ADCY1 C>T	7	45717554	45717554	C	T	ADCY1	c.1692C>T	NM_021116.3	NP_066939.1:p.(Arg564=)	NC_000007.13:g.45717554C>T	(Likely) benign	1 lab	e2bdadb790
17:7788287 CHD3 G>C	17	7788287	7788287	G	C	CHD3	c.163G>C	NM_001005271.2	NP_001005271.2:p.(Gly55Arg)	NC_000017.10:g.7788287G>C	(Likely) benign	1 lab	e2c136a389
19:21132453 ZNF85 C>G	19	21132453	21132453	C	G	ZNF85	c.1223C>G	NM_001256171.1	NP_001243100.1:p.(Ala408Gly)	NC_000019.9:g.21132453C>G	(Likely) benign	1 lab	e2c17203c7
15:89865264 POLG G>A	15	89865264	89865264	G	A	POLG	c.2427-18C>T	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89865264G>A	(Likely) benign	1 lab	e2c320201e
5:39289002 C9 T>C	5	39289002	39289002	T	C	C9	c.1468A>G	NM_001737.3	NP_001728.1:p.(Lys490Glu)	NC_000005.9:g.39289002T>C	VUS	1 lab	e2c4474126
4:115597355 UGT8 A>G	4	115597355	115597355	A	G	UGT8	c.1537A>G	NM_001322112.1	NP_001309041.1:p.(Ser513Gly)	NC_000004.11:g.115597355A>G	(Likely) benign	1 lab	e2c4e36555
19:50728917 MYH14 G>A	19	50728917	50728917	G	A	MYH14	c.793G>A	NM_001145809.1	NP_001139281.1:p.(Asp265Asn)	NC_000019.9:g.50728917G>A	VUS	1 lab	e2c58f5f05
21:46875793 COL18A1 G>A	21	46875793	46875793	G	A	COL18A1	c.349G>A	NM_130444.3	NP_569711.2:p.(Val117Met)	NC_000021.8:g.46875793G>A	(Likely) benign	1 lab	e2c595bf99
9:104192205 ALDOB A>C	9	104192205	104192205	A	C	ALDOB	c.156T>G	NM_000035.4	NP_000026.2:p.(Thr52=)	NC_000009.11:g.104192205A>C	(Likely) benign	1 lab	e2c6c0deec
17:39925383 JUP G>A	17	39925383	39925383	G	A	JUP	c.545C>T	NM_002230.2	NP_002221.1:p.(Ser182Leu)	NC_000017.10:g.39925383G>A	(Likely) benign	1 lab	e2cb576266
19:9059382 MUC16 G>A	19	9059382	9059382	G	A	MUC16	c.28064C>T	NM_024690.2	NP_078966.2:p.(Thr9355Ile)	NC_000019.9:g.9059382G>A	VUS	1 lab	e2cd88c115
14:74951166 NPC2 CTT>C	14	74951166	74951168	CTT	C	NPC2	c.313_314del	NM_006432.5	NP_006423.1:p.(Lys105AspfsTer3)	NC_000014.8:g.74951167_74951168del	(Likely) pathogenic	1 lab	e2cfc824d9
13:60548513 DIAPH3 T>C	13	60548513	60548513	T	C	DIAPH3	c.1623A>G	NM_001042517.1	NP_001035982.1:p.(Gln541=)	NC_000013.10:g.60548513T>C	(Likely) benign	1 lab	e2d0116bf4
6:100061483 PRDM13 C>G	6	100061483	100061483	C	G	PRDM13	c.972C>G	NM_021620.3	NP_067633.2:p.(Leu324=)	NC_000006.11:g.100061483C>G	(Likely) benign	1 lab	e2d0c1f599
19:45540799 RELB A>G	19	45540799	45540799	A	G	RELB	c.1491A>G	NM_006509.4	NP_006500.2:p.(Thr497=)	NC_000019.9:g.45540799A>G	(Likely) benign	1 lab	e2d164023f
6:36259274 PNPLA1 C>T	6	36259274	36259274	C	T	PNPLA1	c.383C>T	NM_001145717.1	NP_001139189.2:p.(Thr128Met)	NC_000006.11:g.36259274C>T	VUS	1 lab	e2d208411d
16:11260285 CLEC16A G>A	16	11260285	11260285	G	A	CLEC16A	c.2682G>A	NM_015226.2	NP_056041.1:p.(Pro894=)	NC_000016.9:g.11260285G>A	(Likely) benign	1 lab	e2d219e97c
11:47364188 MYBPC3 G>A	11	47364188	47364188	G	A	MYBPC3	c.1565C>T	NM_000256.3	NP_000247.2:p.(Ala522Val)	NC_000011.9:g.47364188G>A	VUS	1 lab	e2d238334a
17:79890814 PYCR1 C>T	17	79890814	79890814	C	T	PYCR1	c.893G>A	NM_153824.2	NP_722546.1:p.(Ser298Asn)	NC_000017.10:g.79890814C>T	(Likely) benign	1 lab	e2d255bf12
6:7581337 DSP C>T	6	7581337	7581337	C	T	DSP	c.4914C>T	NM_004415.2	NP_004406.2:p.(Asp1638=)	NC_000006.11:g.7581337C>T	(Likely) benign	1 lab	e2d2f6096b
X:19086893 ADGRG2 C>T	X	19086893	19086893	C	T	ADGRG2	c.60G>A	NM_001079858.2	NP_001073327.1:p.(Thr20=)	NC_000023.10:g.19086893C>T	(Likely) benign	1 lab	e2d43b964a
1:186084541 HMCN1 A>T	1	186084541	186084541	A	T	HMCN1	c.11556A>T	NM_031935.2	NP_114141.2:p.(Ser3852=)	NC_000001.10:g.186084541A>T	(Likely) benign	1 lab	e2d62d468c
1:205740611 RAB29 A>G	1	205740611	205740611	A	G	RAB29	c.295T>C	NM_001135663.1	NP_001129135.1:p.(Leu99=)	NC_000001.10:g.205740611A>G	(Likely) benign	1 lab	e2d7b6460c
14:102516879 DYNC1H1 C>T	14	102516879	102516879	C	T	DYNC1H1	c.13920C>T	NM_001376.4	NP_001367.2:p.(Val4640=)	NC_000014.8:g.102516879C>T	(Likely) benign	1 lab	e2d873bca4
21:46911182 COL18A1 G>GC	21	46911182	46911189	G	GC	COL18A1	c.2118dup	NM_130445.2	NP_569712.2:p.(Gly707ArgfsTer23)	NC_000021.8:g.46911189dup	(Likely) pathogenic	1 lab	e2d891ba20
20:47601974 ARFGEF2 C>T	20	47601974	47601974	C	T	ARFGEF2	c.2100C>T	NM_006420.2	NP_006411.2:p.(Ser700=)	NC_000020.10:g.47601974C>T	(Likely) benign	1 lab	e2d8a2e179
X:153590045 FLNA C>T	X	153590045	153590045	C	T	FLNA	c.2937G>A	NM_001110556.2	NP_001104026.1:p.(Leu979=)	NC_000023.10:g.153590045C>T	(Likely) benign	1 lab	e2dae491bc
15:90185500 KIF7 A>C	15	90185500	90185500	A	C	KIF7	c.2328T>G	NM_198525.2	NP_940927.2:p.(Asp776Glu)	NC_000015.9:g.90185500A>C	VUS	1 lab	e2de905052
19:5222958 PTPRS G>A	19	5222958	5222958	G	A	PTPRS	c.2845C>T	NM_002850.3	NP_002841.3:p.(Arg949Cys)	NC_000019.9:g.5222958G>A	VUS	1 lab	e2dea0ce90
14:23899815 MYH7 G>T	14	23899815	23899815	G	T	MYH7	c.953C>A	NM_000257.2	NP_000248.2:p.(Thr318Asn)	NC_000014.8:g.23899815G>T	VUS	1 lab	e2def5e842
9:131670043 LRRC8A C>T	9	131670043	131670043	C	T	LRRC8A	c.600C>T	NM_001127244.1	NP_001120716.1:p.(Thr200=)	NC_000009.11:g.131670043C>T	(Likely) benign	1 lab	e2e0b234df
13:110827723 COL4A1 G>A	13	110827723	110827723	G	A	COL4A1	c.3059-19C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110827723G>A	(Likely) benign	1 lab	e2e3400268
12:4409146 CCND2 C>T	12	4409146	4409146	C	T	CCND2	c.841C>T	NM_001759.3	NP_001750.1:p.(Pro281Ser)	NC_000012.11:g.4409146C>T	(Likely) pathogenic	1 lab	e2e43256be
21:38309619 HLCS C>T	21	38309619	38309619	C	T	HLCS	c.126G>A	NM_001242784.2	NP_001229713.1:p.(Glu42=)	NC_000021.8:g.38309619C>T	(Likely) benign	1 lab	e2e5cf0517
10:79759775 POLR3A G>A	10	79759775	79759775	G	A	POLR3A	c.2580C>T	NM_007055.3	NP_008986.2:p.(Asp860=)	NC_000010.10:g.79759775G>A	(Likely) benign	1 lab	e2e714f6ab
21:47549116 COL6A2 C>T	21	47549116	47549116	C	T	COL6A2	c.2468C>T	NM_058174.2	NP_478054.2:p.(Pro823Leu)	NC_000021.8:g.47549116C>T	(Likely) benign	1 lab	e2e7393b1b
4:187535444 FAT1 G>T	4	187535444	187535444	G	T	FAT1	c.9130C>A	NM_005245.3	NP_005236.2:p.(Gln3044Lys)	NC_000004.11:g.187535444G>T	VUS	1 lab	e2e7fbb16a
X:114541176 LUZP4 GAGATCTCATAGCCACTCAGAA>G	X	114541176	114541217	GAGATCTCATAGCCACTCAGAA	G	LUZP4	c.770_790del	NM_016383.5	NP_057467.1:p.(Lys257_Gln263del)	NC_000023.10:g.114541197_114541217del	VUS	1 lab	e2e8ba06c7
19:38810745 KCNK6 C>T	19	38810745	38810745	C	T	KCNK6	c.155C>T	NM_004823.3	NP_004814.1:p.(Pro52Leu)	NC_000019.9:g.38810745C>T	VUS	1 lab	e2eb5714f7
3:128200705 GATA2 T>TC	3	128200705	128200709	T	TC	GATA2	c.1099dup	NM_001145661.1	NP_001139133.1:p.(Asp367GlyfsTer17)	NC_000003.11:g.128200709dup	(Likely) pathogenic	1 lab	e2eb86ba7f
12:133147086 FBRSL1 G>A	12	133147086	133147086	G	A	FBRSL1	c.1173G>A	NM_001142641.2	NP_001136113.1:p.(Ala391=)	NC_000012.11:g.133147086G>A	(Likely) benign	1 lab	e2ed28a42f
1:7724209 CAMTA1 C>T	1	7724209	7724209	C	T	CAMTA1	c.1602C>T	NM_015215.3	NP_056030.1:p.(Thr534=)	NC_000001.10:g.7724209C>T	(Likely) benign	1 lab	e2ed877687
10:99258127 MMS19 C>T	10	99258127	99258127	C	T	MMS19	c.15G>A	NM_001351356.1	NP_001338285.1:p.(Ala5=)	NC_000010.10:g.99258127C>T	(Likely) benign	1 lab	e2ee1efdda
3:53212495 PRKCD C>T	3	53212495	53212495	C	T	PRKCD	c.57C>T	NM_006254.4	NP_006245.2:p.(Ala19=)	NC_000003.11:g.53212495C>T	(Likely) benign	1 lab	e2ee895c57
4:657561 PDE6B C>T	4	657561	657561	C	T	PDE6B	c.1923C>T	NM_000283.3	NP_000274.2:p.(Thr641=)	NC_000004.11:g.657561C>T	(Likely) benign	1 lab	e2eeb62b80
16:88504201 ZNF469 C>CA	16	88504201	88504202	C	CA	ZNF469	c.10324dup	NM_001367624.1	NP_001354553.1:p.(Arg3442LysfsTer61)	NC_000016.9:g.88504202dup	(Likely) pathogenic	1 lab	e2eeb88921
19:13409960 CACNA1A C>T	19	13409960	13409960	C	T	CACNA1A	c.2499G>A	NM_023035.2	NP_075461.2:p.(Glu833=)	NC_000019.9:g.13409960C>T	(Likely) benign	1 lab	e2eedc4f12
1:228468272 OBSCN G>A	1	228468272	228468272	G	A	OBSCN	c.9259G>A	NM_001271223.2	NP_001258152.2:p.(Ala3087Thr)	NC_000001.10:g.228468272G>A	VUS	1 lab	e2f4479cf2
11:133791183 MISSING G>A	11	133791183	133791183	G	A	MISSING				NC_000011.9:g.133791183G>A	VUS	1 lab	e4a1cfbfc4
10:129903491 MKI67 T>C	10	129903491	129903491	T	C	MKI67	c.6613A>G	NM_002417.4	NP_002408.3:p.(Ile2205Val)	NC_000010.10:g.129903491T>C	(Likely) benign	1 lab	e2f65fbbcd
14:105420089 AHNAK2 C>T	14	105420089	105420089	C	T	AHNAK2	c.1699G>A	NM_138420.3	NP_612429.2:p.(Glu567Lys)	NC_000014.8:g.105420089C>T	(Likely) benign	1 lab	e2f77f47e4
21:46875958 COL18A1 C>T	21	46875958	46875958	C	T	COL18A1	c.514C>T	NM_030582.4	NP_085059.2:p.(Arg172Cys)	NC_000021.8:g.46875958C>T	VUS	1 lab	e2f92da47e
1:116206717 VANGL1 C>T	1	116206717	116206717	C	T	VANGL1	c.640C>T	NM_138959.2	NP_620409.1:p.(Arg214Trp)	NC_000001.10:g.116206717C>T	VUS	1 lab	e2f9a2f033
14:65263313 SPTB C>G	14	65263313	65263313	C	G	SPTB	c.1303G>C	NM_001024858.3	NP_001020029.1:p.(Glu435Gln)	NC_000014.8:g.65263313C>G	VUS	1 lab	e2f9cd369b
9:133760067 ABL1 T>G	9	133760067	133760067	T	G	ABL1	c.2447T>G	NM_007313.2	NP_009297.2:p.(Val816Gly)	NC_000009.11:g.133760067T>G	VUS	1 lab	e2fa156df0
5:64097159 CWC27 T>C	5	64097159	64097159	T	C	CWC27	c.780T>C	NM_001318000.1	NP_001304929.1:p.(Asp260=)	NC_000005.9:g.64097159T>C	VUS	1 lab	e2fad2f72c
X:80371817 HMGN5 C>G	X	80371817	80371817	C	G	HMGN5	c.153G>C	NM_030763.2	NP_110390.1:p.(Met51Ile)	NC_000023.10:g.80371817C>G	(Likely) benign	1 lab	e2fbbbb44f
16:88504315 ZNF469 G>A	16	88504315	88504315	G	A	ZNF469				NC_000016.9:g.88504315G>A	(Likely) benign	1 lab	e2fe8fe377
19:1785261 ATP8B3 G>A	19	1785261	1785261	G	A	ATP8B3	c.3429C>T	NM_138813.3	NP_620168.1:p.(Cys1143=)	NC_000019.9:g.1785261G>A	(Likely) benign	1 lab	e2fe922471
12:125451413 DHX37 C>T	12	125451413	125451413	C	T	DHX37	c.1516G>A	NM_032656.4	NP_116045.2:p.(Asp506Asn)	NC_000012.11:g.125451413C>T	(Likely) benign	1 lab	e300442ab6
14:55241724 SAMD4A G>A	14	55241724	55241724	G	A	SAMD4A	c.1788G>A	NM_015589.5	NP_056404.4:p.(Pro596=)	NC_000014.8:g.55241724G>A	(Likely) benign	1 lab	e301198e24
X:24381684 SUPT20HL1 A>C	X	24381684	24381684	A	C	SUPT20HL1	c.885A>C	NM_001136234.2	NP_001129706.2:p.(Gln295His)	NC_000023.10:g.24381684A>C	VUS	1 lab	e3035eaef9
4:88534401 DSPP G>A	4	88534401	88534401	G	A	DSPP	c.1063G>A	NM_014208.3	NP_055023.2:p.(Val355Ile)	NC_000004.11:g.88534401G>A	(Likely) benign	1 lab	e304076df8
15:90611639 ZNF710 C>T	15	90611639	90611639	C	T	ZNF710	c.1270C>T	NM_198526.4	NP_940928.2:p.(Arg424Cys)	NC_000015.9:g.90611639C>T	VUS	1 lab	e304814068
8:1712052 CLN8 G>C	8	1712052	1712052	G	C	CLN8	c.-124+1G>C	NM_018941.3	NP_061764.2:p.?	NC_000008.10:g.1712052G>C	VUS	1 lab	e304b52ba0
11:2906096 CDKN1C C>G	11	2906096	2906096	C	G	CDKN1C	c.624G>C	NM_000076.2	NP_000067.1:p.(Pro208=)	NC_000011.9:g.2906096C>G	(Likely) benign	1 lab	e3054ce54d
6:73110275 RIMS1 C>T	6	73110275	73110275	C	T	RIMS1	c.4938C>T	NM_014989.5	NP_055804.2:p.(Leu1646=)	NC_000006.11:g.73110275C>T	(Likely) benign	1 lab	e3057fdf75
15:101549187 LRRK1 A>G	15	101549187	101549187	A	G	LRRK1	c.908A>G	NM_024652.5	NP_078928.3:p.(Asn303Ser)	NC_000015.9:g.101549187A>G	(Likely) benign	1 lab	e307040037
9:35657969 RMRP C>T	9	35657969	35657969	C	T	RMRP	n.47G>A	NR_003051.3		NC_000009.11:g.35657969C>T	VUS	1 lab	e3082bd667
4:128804660 PLK4 A>G	4	128804660	128804660	A	G	PLK4	c.289A>G	NM_014264.4	NP_055079.3:p.(Met97Val)	NC_000004.11:g.128804660A>G	VUS	1 lab	e30b35e5bf
19:36499446 SYNE4 C>T	19	36499446	36499446	C	T	SYNE4	c.128+10G>A	NM_001039876.2	NP_001034965.1:p.?	NC_000019.9:g.36499446C>T	(Likely) benign	1 lab	e30bffff6a
X:118893575 SOWAHD T>C	X	118893575	118893575	T	C	SOWAHD	c.945T>C	NM_001105576.3	NP_001099046.1:p.(Arg315=)	NC_000023.10:g.118893575T>C	(Likely) benign	1 lab	e30c9743c4
11:1266430 MUC5B G>T	11	1266430	1266430	G	T	MUC5B	c.8320G>T	NM_002458.2	NP_002449.2:p.(Ala2774Ser)	NC_000011.9:g.1266430G>T	VUS	1 lab	e30dbfd5b2
22:22127176 MAPK1 C>T	22	22127176	22127176	C	T	MAPK1				NC_000022.10:g.22127176C>T	(Likely) pathogenic	1 lab	13153a831a
5:154307008 GEMIN5 A>T	5	154307008	154307008	A	T	GEMIN5	c.1017T>A	NM_015465.4	NP_056280.2:p.(Asn339Lys)	NC_000005.9:g.154307008A>T	VUS	1 lab	e30e51589a
18:33722921 ELP2 A>G	18	33722921	33722921	A	G	ELP2	c.788A>G	NM_018255.4	NP_060725.1:p.(Glu263Gly)	NC_000018.9:g.33722921A>G	(Likely) benign	1 lab	e30f30e014
12:81063139 MISSING C>A	12	81063139	81063139	C	A	MISSING				NC_000012.11:g.81063139C>A	VUS	1 lab	e310335d5f
10:94409742 KIF11 C>T	10	94409742	94409742	C	T	KIF11	c.2921C>T	NM_004523.3	NP_004514.2:p.(Pro974Leu)	NC_000010.10:g.94409742C>T	VUS	1 lab	e312ecebad
12:102142972 GNPTAB G>A	12	102142972	102142972	G	A	GNPTAB	c.3603-3C>T	NM_024312.4	NP_077288.2:p.?	NC_000012.11:g.102142972G>A	(Likely) benign	1 lab	e312ed1aad
8:104778687 RIMS2 A>C	8	104778687	104778687	A	C	RIMS2	c.620A>C	NM_001100117.2	NP_001093587.1:p.(His207Pro)	NC_000008.10:g.104778687A>C	(Likely) benign	1 lab	e318430a48
9:139418358 NOTCH1 C>T	9	139418358	139418358	C	T	NOTCH1	c.214G>A	NM_017617.5	NP_060087.3:p.(Gly72Arg)	NC_000009.11:g.139418358C>T	VUS	1 lab	e318e3f0eb
4:16010707 PROM1 A>G	4	16010707	16010707	A	G	PROM1	c.1139T>C	NM_001145847.1	NP_001139319.1:p.(Ile380Thr)	NC_000004.11:g.16010707A>G	VUS	1 lab	e319acdd1e
13:20716844 GJA3 G>A	13	20716844	20716844	G	A	GJA3	c.584C>T	NM_021954.3	NP_068773.2:p.(Ser195Phe)	NC_000013.10:g.20716844G>A	VUS	1 lab	e31a262810
2:179474489 TTN G>C	2	179474489	179474489	G	C	TTN	c.51661C>G	NM_001267550.1	NP_001254479.1:p.(Arg17221Gly)	NC_000002.11:g.179474489G>C	VUS	1 lab	e31b9f95db
7:27809338 TAX1BP1 A>G	7	27809338	27809338	A	G	TAX1BP1	c.497A>G	NM_006024.6	NP_006015.4:p.(Lys166Arg)	NC_000007.13:g.27809338A>G	VUS	1 lab	e31cf1b16e
15:55652618 CCPG1 C>A	15	55652618	55652618	C	A	CCPG1	c.1353G>T	NM_004748.4	NP_004739.3:p.(Leu451Phe)	NC_000015.9:g.55652618C>A	VUS	1 lab	e31d4b9107
11:1271484 MUC5B C>T	11	1271484	1271484	C	T	MUC5B	c.13374C>T	NM_002458.2	NP_002449.2:p.(Thr4458=)	NC_000011.9:g.1271484C>T	(Likely) benign	1 lab	e31e197da6
22:50962646 SCO2 G>C	22	50962646	50962646	G	C	SCO2	c.195C>G	NM_001169109.1	NP_001162580.1:p.(Gly65=)	NC_000022.10:g.50962646G>C	(Likely) benign	1 lab	e31eb86705
17:66303841 ARSG G>A	17	66303841	66303841	G	A	ARSG	c.207G>A	NM_001352910.1	NP_001339839.1:p.(Ser69=)	NC_000017.10:g.66303841G>A	(Likely) benign	1 lab	e31fb8b210
9:79322015 PRUNE2 C>A	9	79322015	79322015	C	A	PRUNE2	c.5175G>T	NM_015225.3	NP_056040.2:p.(Lys1725Asn)	NC_000009.11:g.79322015C>A	(Likely) benign	1 lab	e321cfcf34
7:66103325 KCTD7 A>G	7	66103325	66103325	A	G	KCTD7	c.400A>G	NM_153033.4	NP_694578.1:p.(Ile134Val)	NC_000007.13:g.66103325A>G	(Likely) benign	1 lab	e32287fc75
4:654375 PDE6B G>A	4	654375	654375	G	A	PDE6B	c.1587G>A	NM_000283.3	NP_000274.2:p.(Val529=)	NC_000004.11:g.654375G>A	(Likely) benign	1 lab	e32320dc17
X:107420175 COL4A6 A>G	X	107420175	107420175	A	G	COL4A6	c.2633T>C	NM_001287758.1	NP_001274687.1:p.(Leu878Pro)	NC_000023.10:g.107420175A>G	(Likely) benign	1 lab	e3234f05b4
4:79199817 FRAS1 A>G	4	79199817	79199817	A	G	FRAS1	c.990A>G	NM_025074.7	NP_079350.5:p.(Glu330=)	NC_000004.11:g.79199817A>G	(Likely) benign	1 lab	e32608e2d4
8:145740572 RECQL4 C>T	8	145740572	145740572	C	T	RECQL4	c.1445G>A	NM_004260.3	NP_004251.3:p.(Arg482His)	NC_000008.10:g.145740572C>T	VUS	1 lab	e3262fe853
3:114099622 ZBTB20 A>G	3	114099622	114099622	A	G	ZBTB20	c.11+2T>C	NM_001348803.1	NP_001335732.1:p.?	NC_000003.11:g.114099622A>G	VUS	1 lab	e32858ffb5
6:100062188 PRDM13 C>T	6	100062188	100062188	C	T	PRDM13	c.1677C>T	NM_021620.3	NP_067633.2:p.(Gly559=)	NC_000006.11:g.100062188C>T	(Likely) benign	1 lab	e32a8da415
12:103248925 PAH T>C	12	103248925	103248925	T	C	PAH	c.695A>G	NM_000277.1	NP_000268.1:p.(Gln232Arg)	NC_000012.11:g.103248925T>C	(Likely) benign	1 lab	e32a91be82
22:26176052 MYO18B C>T	22	26176052	26176052	C	T	MYO18B	c.2098C>T	NM_001318245.1	NP_001305174.1:p.(Leu700Phe)	NC_000022.10:g.26176052C>T	VUS	1 lab	e32b78e759
X:79978179 BRWD3 A>T	X	79978179	79978179	A	T	BRWD3	c.1758T>A	NM_153252.4	NP_694984.4:p.(Pro586=)	NC_000023.10:g.79978179A>T	(Likely) benign	1 lab	e32c7e8e94
Y:21903280 KDM5D A>G	Y	21903280	21903280	A	G	KDM5D	c.446T>C	NM_001146705.1	NP_001140177.1:p.(Ile149Thr)	NC_000024.9:g.21903280A>G	(Likely) benign	1 lab	e32d3ce3fd
5:11385071 CTNND2 G>A	5	11385071	11385071	G	A	CTNND2	c.883C>T	NM_001332.3	NP_001323.1:p.(Pro295Ser)	NC_000005.9:g.11385071G>A	VUS	1 lab	e32dd254df
19:7607465 PNPLA6 G>A	19	7607465	7607465	G	A	PNPLA6	c.1298G>A	NM_001166111.1	NP_001159583.1:p.(Arg433His)	NC_000019.9:g.7607465G>A	VUS	1 lab	e33139ec54
17:78061564 CCDC40 C>T	17	78061564	78061564	C	T	CCDC40	c.2608C>T	NM_017950.3	NP_060420.2:p.(Arg870Cys)	NC_000017.10:g.78061564C>T	(Likely) benign	1 lab	e332facc96
4:155665778 LRAT C>T	4	155665778	155665778	C	T	LRAT	c.300C>T	NM_004744.4	NP_004735.2:p.(Gly100=)	NC_000004.11:g.155665778C>T	(Likely) benign	1 lab	e3337ed31d
18:44069050 LOXHD1 G>A	18	44069050	44069050	G	A	LOXHD1	c.5748C>T	NM_144612.6	NP_653213.6:p.(Asp1916=)	NC_000018.9:g.44069050G>A	(Likely) benign	1 lab	e3338ed40c
9:138657599 KCNT1 C>T	9	138657599	138657599	C	T	KCNT1	c.1330C>T	NM_020822.2	NP_065873.2:p.(Arg444Ter)	NC_000009.11:g.138657599C>T	VUS	1 lab	e33455612e
4:119234506 PRSS12 G>T	4	119234506	119234506	G	T	PRSS12	c.1339C>A	NM_003619.3	NP_003610.2:p.(Pro447Thr)	NC_000004.11:g.119234506G>T	VUS	1 lab	e334d5c751
18:2920324 LPIN2 C>T	18	2920324	2920324	C	T	LPIN2	c.2658G>A	NM_014646.2	NP_055461.1:p.(Pro886=)	NC_000018.9:g.2920324C>T	(Likely) benign	1 lab	e334fe0f70
1:120311380 HMGCS2 G>C	1	120311380	120311380	G	C	HMGCS2	c.88C>G	NM_005518.3	NP_005509.1:p.(Pro30Ala)	NC_000001.10:g.120311380G>C	(Likely) benign	1 lab	e3367be7d4
11:47605970 NDUFS3 C>T	11	47605970	47605970	C	T	NDUFS3	c.732C>T	NM_004551.2	NP_004542.1:p.(Val244=)	NC_000011.9:g.47605970C>T	(Likely) benign	1 lab	e336ac525b
17:41835951 SOST G>A	17	41835951	41835951	G	A	SOST	c.159C>T	NM_025237.2	NP_079513.1:p.(Asn53=)	NC_000017.10:g.41835951G>A	(Likely) benign	1 lab	e3373567a7
8:10480477 RP1L1 G>A	8	10480477	10480477	G	A	RP1L1	c.235C>T	NM_178857.5	NP_849188.4:p.(Arg79Cys)	NC_000008.10:g.10480477G>A	VUS	1 lab	e33831b941
20:3146512 LZTS3 A>C	20	3146512	3146512	A	C	LZTS3	c.954T>G	NM_001282533.1	NP_001269462.1:p.(Ser318Arg)	NC_000020.10:g.3146512A>C	VUS	1 lab	e33a73c741
5:177580747 NHP2 G>A	5	177580747	177580747	G	A	NHP2	c.72C>T	NM_017838.3	NP_060308.1:p.(Tyr24=)	NC_000005.9:g.177580747G>A	(Likely) benign	1 lab	e33ae56e3d
1:196748970 CFHR3 T>C	1	196748970	196748970	T	C	CFHR3	c.297T>C	NM_021023.5	NP_066303.2:p.(Asn99=)	NC_000001.10:g.196748970T>C	(Likely) benign	1 lab	e33c0f8f1f
19:1254249 MIDN C>T	19	1254249	1254249	C	T	MIDN	c.468C>T	NM_177401.4	NP_796375.3:p.(Leu156=)	NC_000019.9:g.1254249C>T	(Likely) benign	1 lab	e33c5e84c8
6:56481628 DST T>G	6	56481628	56481628	T	G	DST	c.6637A>C	NM_001723.5	NP_001714.1:p.(Lys2213Gln)	NC_000006.11:g.56481628T>G	VUS	1 lab	e33f50d43a
5:90046390 ADGRV1 A>G	5	90046390	90046390	A	G	ADGRV1	c.10997A>G	NM_032119.4	NP_115495.3:p.(Glu3666Gly)	NC_000005.9:g.90046390A>G	VUS	1 lab	e341376283
8:77895590 PEX2 G>A	8	77895590	77895590	G	A	PEX2	c.825C>T	NM_001172086.1	NP_001165557.1:p.(Asp275=)	NC_000008.10:g.77895590G>A	(Likely) benign	1 lab	e341ab642d
9:135772728 TSC1 G>A	9	135772728	135772728	G	A	TSC1	c.2818C>T	NM_000368.4	NP_000359.1:p.(Gln940Ter)	NC_000009.11:g.135772728G>A	(Likely) pathogenic	1 lab	e3420141d8
3:47164832 SETD2 G>C	3	47164832	47164832	G	C	SETD2	c.1294C>G	NM_014159.6	NP_054878.5:p.(Arg432Gly)	NC_000003.11:g.47164832G>C	VUS	1 lab	e34227474f
12:49446485 KMT2D G>T	12	49446485	49446485	G	T	KMT2D	c.1120C>A	NM_003482.3	NP_003473.3:p.(Pro374Thr)	NC_000012.11:g.49446485G>T	(Likely) benign	1 lab	e342b1995e
2:179447347 TTN A>G	2	179447347	179447347	A	G	TTN	c.65864-28T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179447347A>G	(Likely) benign	1 lab	e3434726ac
1:235993518 LYST A>C	1	235993518	235993518	A	C	LYST	c.192+8T>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235993518A>C	(Likely) benign	1 lab	e34348942b
X:139586218 SOX3 C>T	X	139586218	139586218	C	T	SOX3	c.1008G>A	NM_005634.2	NP_005625.2:p.(Met336Ile)	NC_000023.10:g.139586218C>T	VUS	1 lab	e34391dd48
14:74995773 LTBP2 G>A	14	74995773	74995773	G	A	LTBP2	c.2040C>T	NM_000428.2	NP_000419.1:p.(Pro680=)	NC_000014.8:g.74995773G>A	(Likely) benign	1 lab	e34490e10f
17:41063323 G6PC C>T	17	41063323	41063323	C	T	G6PC				NC_000017.10:g.41063323C>T	(Likely) benign	1 lab	e344db7e16
10:105794459 COL17A1 G>A	10	105794459	105794459	G	A	COL17A1	c.3686C>T	NM_000494.4	NP_000485.3:p.(Pro1229Leu)	NC_000010.10:g.105794459G>A	VUS	1 lab	e3479f38a0
X:18926137 PHKA2 C>T	X	18926137	18926137	C	T	PHKA2	c.2398G>A	NM_000292.2	NP_000283.1:p.(Gly800Arg)	NC_000023.10:g.18926137C>T	(Likely) benign	1 lab	e347df2ae9
8:10469846 RP1L1 C>A	8	10469846	10469846	C	A	RP1L1	c.1762G>T	NM_178857.5	NP_849188.4:p.(Asp588Tyr)	NC_000008.10:g.10469846C>A	VUS	1 lab	e348a2e680
2:179528600 TTN C>T	2	179528600	179528600	C	T	TTN	c.36394G>A	NM_001267550.1	NP_001254479.1:p.(Glu12132Lys)	NC_000002.11:g.179528600C>T	VUS	1 lab	e349168971
X:100743872 ARMCX4 C>G	X	100743872	100743872	C	G	ARMCX4	c.296C>G	NM_001256155.2	NP_001243084.2:p.(Ala99Gly)	NC_000023.10:g.100743872C>G	(Likely) benign	1 lab	e3497bc0bb
19:7607529 PNPLA6 C>T	19	7607529	7607529	C	T	PNPLA6	c.1362C>T	NM_001166111.1	NP_001159583.1:p.(Ser454=)	NC_000019.9:g.7607529C>T	(Likely) benign	1 lab	e34a77ab81
1:94543268 ABCA4 C>T	1	94543268	94543268	C	T	ABCA4	c.1532G>A	NM_000350.2	NP_000341.2:p.(Arg511His)	NC_000001.10:g.94543268C>T	VUS	1 lab	e34b1e24a4
10:73466767 CDH23 G>A	10	73466767	73466767	G	A	CDH23	c.3067G>A	NM_022124.5	NP_071407.4:p.(Asp1023Asn)	NC_000010.10:g.73466767G>A	VUS	1 lab	e34cab8d8e
7:91843306 KRIT1 A>T	7	91843306	91843306	A	T	KRIT1	c.1731-13T>A	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91843306A>T	(Likely) pathogenic	1 lab	e34ef72f0f
5:150885386 FAT2 C>T	5	150885386	150885386	C	T	FAT2	c.12790G>A	NM_001447.2	NP_001438.1:p.(Val4264Ile)	NC_000005.9:g.150885386C>T	(Likely) benign	1 lab	e34f215f18
11:76925682 MYO7A T>C	11	76925682	76925682	T	C	MYO7A	c.6589T>C	NM_000260.3	NP_000251.3:p.(Tyr2197His)	NC_000011.9:g.76925682T>C	VUS	1 lab	e3557d7385
4:38893431 FAM114A1 C>A	4	38893431	38893431	C	A	FAM114A1	c.416C>A	NM_138389.3	NP_612398.2:p.(Ser139Ter)	NC_000004.11:g.38893431C>A	VUS	1 lab	e357255e89
19:18177476 IL12RB1 C>T	19	18177476	18177476	C	T	IL12RB1	c.1479G>A	NM_001290024.1	NP_001276953.1:p.(Ser493=)	NC_000019.9:g.18177476C>T	(Likely) benign	1 lab	e3576edb0b
8:17447161 PDGFRL C>T	8	17447161	17447161	C	T	PDGFRL	c.240C>T	NM_006207.2	NP_006198.1:p.(Pro80=)	NC_000008.10:g.17447161C>T	(Likely) benign	1 lab	e35b4c13b4
16:72146317 DHX38 C>T	16	72146317	72146317	C	T	DHX38	c.3605C>T	NM_014003.3	NP_054722.2:p.(Thr1202Met)	NC_000016.9:g.72146317C>T	VUS	1 lab	e35bee5dca
3:131102098 NUDT16 G>A	3	131102098	131102098	G	A	NUDT16	c.501G>A	NM_152395.2	NP_689608.2:p.(Ala167=)	NC_000003.11:g.131102098G>A	(Likely) benign	1 lab	e35c45946b
5:172659785 NKX2-5 G>C	5	172659785	172659785	G	C	NKX2-5	c.762C>G	NM_004387.3	NP_004378.1:p.(Pro254=)	NC_000005.9:g.172659785G>C	(Likely) benign	1 lab	e35ce323ae
16:88800802 PIEZO1 C>T	16	88800802	88800802	C	T	PIEZO1	c.2142G>A	NM_001142864.4	NP_001136336.2:p.(Val714=)	NC_000016.9:g.88800802C>T	(Likely) benign	1 lab	e35dddda55
21:47856053 PCNT C>T	21	47856053	47856053	C	T	PCNT	c.8988C>T	NM_006031.5	NP_006022.3:p.(Ala2996=)	NC_000021.8:g.47856053C>T	(Likely) benign	1 lab	e35eedd1ba
4:39271605 WDR19 G>A	4	39271605	39271605	G	A	WDR19	c.3368G>A	NM_025132.3	NP_079408.3:p.(Arg1123Gln)	NC_000004.11:g.39271605G>A	VUS	1 lab	e3600cd1a3
1:152190719 HRNR C>T	1	152190719	152190719	C	T	HRNR	c.3386G>A	NM_001009931.2	NP_001009931.1:p.(Gly1129Asp)	NC_000001.10:g.152190719C>T	(Likely) benign	1 lab	e364ab8553
17:29664505 NF1 C>CG	17	29664505	29664508	C	CG	NF1	c.6487dup	NM_000267.3	NP_000258.1:p.(Asp2163GlyfsTer10)	NC_000017.10:g.29664508dup	(Likely) pathogenic	1 lab	e364e8ce68
10:50678524 ERCC6 C>G	10	50678524	50678524	C	G	ERCC6	c.3482G>C	NM_001346440.1	NP_001333369.1:p.(Ser1161Thr)	NC_000010.10:g.50678524C>G	(Likely) benign	1 lab	e364fd03fe
9:137623929 COL5A1 C>T	9	137623929	137623929	C	T	COL5A1	c.1345C>T	NM_000093.4	NP_000084.3:p.(Arg449Trp)	NC_000009.11:g.137623929C>T	(Likely) benign	1 lab	e3674e61b9
X:54278048 WNK3 C>T	X	54278048	54278048	C	T	WNK3	c.2440G>A	NM_020922.4	NP_065973.2:p.(Ala814Thr)	NC_000023.10:g.54278048C>T	VUS	1 lab	e367eb2632
15:28456296 HERC2 G>A	15	28456296	28456296	G	A	HERC2	c.6926-5C>T	NM_004667.5	NP_004658.3:p.?	NC_000015.9:g.28456296G>A	(Likely) benign	1 lab	e3690a961b
6:33160013 COL11A2 T>C	6	33160013	33160013	T	C	COL11A2	c.5A>G	NM_080680.2	NP_542411.2:p.(Glu2Gly)	NC_000006.11:g.33160013T>C	VUS	1 lab	e3690c76e7
19:45868199 ERCC2 T>C	19	45868199	45868199	T	C	ERCC2	c.491A>G	NM_000400.3	NP_000391.1:p.(His164Arg)	NC_000019.9:g.45868199T>C	(Likely) benign	1 lab	e369bd7575
2:129026099 HS6ST1 G>A	2	129026099	129026099	G	A	HS6ST1	c.873C>T	NM_004807.2	NP_004798.3:p.(Phe291=)	NC_000002.11:g.129026099G>A	(Likely) benign	1 lab	e36b1f7939
X:119581848 LAMP2 C>G	X	119581848	119581848	C	G	LAMP2	c.589G>C	NM_002294.2	NP_002285.1:p.(Val197Leu)	NC_000023.10:g.119581848C>G	(Likely) benign	1 lab	e36c90bfbe
2:74597625 DCTN1 C>T	2	74597625	74597625	C	T	DCTN1	c.1095G>A	NM_004082.4	NP_004073.2:p.(Glu365=)	NC_000002.11:g.74597625C>T	(Likely) benign	1 lab	e36dc0abbe
17:29509684 NF1 G>A	17	29509684	29509684	G	A	NF1	c.888+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29509684G>A	(Likely) pathogenic	1 lab	e36f9ea025
1:100661842 DBT T>C	1	100661842	100661842	T	C	DBT	c.1418A>G	NM_001918.3	NP_001909.3:p.(Asn473Ser)	NC_000001.10:g.100661842T>C	(Likely) benign	1 lab	e36fd1f2fa
13:103510737 ERCC5 G>A	13	103510737	103510737	G	A	ERCC5	c.641G>A	NM_000123.3	NP_000114.2:p.(Arg214His)	NC_000013.10:g.103510737G>A	(Likely) benign	1 lab	e3706959c4
14:91770332 CCDC88C G>C	14	91770332	91770332	G	C	CCDC88C	c.3358-10C>G	NM_001080414.3	NP_001073883.2:p.?	NC_000014.8:g.91770332G>C	(Likely) benign	1 lab	e3715d42a5
7:48018335 HUS1 C>T	7	48018335	48018335	C	T	HUS1	c.131G>A	NM_004507.4	NP_004498.1:p.(Cys44Tyr)	NC_000007.13:g.48018335C>T	(Likely) benign	1 lab	e3729968ea
7:103183147 RELN G>GT	7	103183147	103183154	G	GT	RELN	c.6671+30dup	NM_173054.2	NP_774959.1:p.?	NC_000007.13:g.103183154dup	(Likely) benign	1 lab	e373929d7b
X:110388157 PAK3 G>T	X	110388157	110388157	G	T	PAK3	c.339+7G>T	NM_001128168.2	NP_001121640.1:p.?	NC_000023.10:g.110388157G>T	(Likely) benign	1 lab	e373dc666c
16:14014108 ERCC4 C>A	16	14014108	14014108	C	A	ERCC4	c.86C>A	NM_005236.2	NP_005227.1:p.(Thr29Asn)	NC_000016.9:g.14014108C>A	(Likely) benign	1 lab	e3743947ab
11:66458980 SPTBN2 G>A	11	66458980	66458980	G	A	SPTBN2	c.5340C>T	NM_006946.3	NP_008877.1:p.(Asn1780=)	NC_000011.9:g.66458980G>A	(Likely) benign	1 lab	e374bcff7f
17:79477848 ACTG1 G>C	17	79477848	79477848	G	C	ACTG1	c.996C>G	NM_001199954.2	NP_001186883.1:p.(Pro332=)	NC_000017.10:g.79477848G>C	(Likely) benign	1 lab	e37536fdd6
10:102768616 PDZD7 G>T	10	102768616	102768616	G	T	PDZD7	c.2719-9C>A	NM_001195263.1	NP_001182192.1:p.?	NC_000010.10:g.102768616G>T	(Likely) benign	1 lab	e376712fa2
X:9905525 SHROOM2 C>T	X	9905525	9905525	C	T	SHROOM2	c.3939C>T	NM_001649.3	NP_001640.1:p.(Asp1313=)	NC_000023.10:g.9905525C>T	(Likely) benign	1 lab	e376bc5bcc
16:67681431 CARMIL2 C>T	16	67681431	67681431	C	T	CARMIL2	c.797C>T	NM_001013838.2	NP_001013860.1:p.(Ala266Val)	NC_000016.9:g.67681431C>T	VUS	1 lab	e3794cbe96
14:51224662 NIN AGAG>A	14	51224662	51224668	AGAG	A	NIN	c.3083_3085del	NM_020921.4	NP_065972.4:p.(Pro1028del)	NC_000014.8:g.51224666_51224668del	VUS	1 lab	e37b40e928
5:132161622 SHROOM1 C>G	5	132161622	132161622	C	G	SHROOM1	c.211G>C	NM_001172700.1	NP_001166171.1:p.(Gly71Arg)	NC_000005.9:g.132161622C>G	(Likely) benign	1 lab	e37c6d4a0b
6:32800244 TAP2 A>G	6	32800244	32800244	A	G	TAP2	c.1144-6T>C	NM_001290043.1	NP_001276972.1:p.?	NC_000006.11:g.32800244A>G	(Likely) benign	1 lab	e37e657103
18:43534961 EPG5 T>C	18	43534961	43534961	T	C	EPG5	c.407A>G	NM_020964.3	NP_066015.2:p.(Lys136Arg)	NC_000018.9:g.43534961T>C	(Likely) benign	1 lab	e3806383cb
X:54012261 PHF8 T>C	X	54012261	54012261	T	C	PHF8	c.2117A>G	NM_015107.2	NP_055922.1:p.(Tyr706Cys)	NC_000023.10:g.54012261T>C	VUS	1 lab	e38079c61e
20:35526352 SAMHD1 AG>A	20	35526352	35526353	AG	A	SAMHD1	c.1618del	NM_015474.4	NP_056289.2:p.(Leu540PhefsTer10)	NC_000020.10:g.35526353del	(Likely) pathogenic	1 lab	e381057527
3:46009705 FYCO1 A>G	3	46009705	46009705	A	G	FYCO1	c.1121T>C	NM_024513.3	NP_078789.2:p.(Met374Thr)	NC_000003.11:g.46009705A>G	(Likely) benign	1 lab	e381878ac7
1:183111832 LAMC1 C>T	1	183111832	183111832	C	T	LAMC1	c.4737C>T	NM_002293.3	NP_002284.3:p.(Ile1579=)	NC_000001.10:g.183111832C>T	(Likely) benign	1 lab	e381cb160f
9:139405671 NOTCH1 G>A	9	139405671	139405671	G	A	NOTCH1	c.2520C>T	NM_017617.5	NP_060087.3:p.(Asn840=)	NC_000009.11:g.139405671G>A	(Likely) benign	1 lab	e384b84fe1
16:30768030 PHKG2 G>T	16	30768030	30768030	G	T	PHKG2	c.921G>T	NM_000294.2	NP_000285.1:p.(Arg307=)	NC_000016.9:g.30768030G>T	(Likely) benign	1 lab	e385741bf1
19:9090069 MUC16 A>T	19	9090069	9090069	A	T	MUC16	c.1746T>A	NM_024690.2	NP_078966.2:p.(Leu582=)	NC_000019.9:g.9090069A>T	(Likely) benign	1 lab	e386caa28a
20:5081478 TMEM230 G>A	20	5081478	5081478	G	A	TMEM230	c.322C>T	NM_001009924.1	NP_001009924.1:p.(Arg108Cys)	NC_000020.10:g.5081478G>A	VUS	1 lab	e386e4822e
X:29935586 IL1RAPL1 T>G	X	29935586	29935586	T	G	IL1RAPL1	c.784T>G	NM_014271.3	NP_055086.1:p.(Ser262Ala)	NC_000023.10:g.29935586T>G	(Likely) benign	1 lab	e387011984
11:17635184 OTOG G>A	11	17635184	17635184	G	A	OTOG	c.6500G>A	NM_001277269.1	NP_001264198.1:p.(Cys2167Tyr)	NC_000011.9:g.17635184G>A	VUS	1 lab	e38750a6e8
3:195594961 TNK2 C>T	3	195594961	195594961	C	T	TNK2	c.2163G>A	NM_005781.4	NP_005772.3:p.(Pro721=)	NC_000003.11:g.195594961C>T	(Likely) benign	1 lab	e3891ce720
17:8138109 CTC1 G>A	17	8138109	8138109	G	A	CTC1	c.1575C>T	NM_025099.6	NP_079375.3:p.(His525=)	NC_000017.10:g.8138109G>A	(Likely) benign	1 lab	e38ad79505
17:1629566 WDR81 C>A	17	1629566	1629566	C	A	WDR81	c.1313C>A	NM_001163809.1	NP_001157281.1:p.(Pro438His)	NC_000017.10:g.1629566C>A	VUS	1 lab	e38bd5036a
7:92147255 PEX1 C>T	7	92147255	92147255	C	T	PEX1	c.574G>A	NM_000466.2	NP_000457.1:p.(Ala192Thr)	NC_000007.13:g.92147255C>T	VUS	1 lab	e38c408206
15:42174844 SPTBN5 A>G	15	42174844	42174844	A	G	SPTBN5	c.1985T>C	NM_016642.4	NP_057726.4:p.(Val662Ala)	NC_000015.9:g.42174844A>G	(Likely) benign	1 lab	e38eab236b
17:76128420 TMC6 A>T	17	76128420	76128420	A	T	TMC6	c.-75+2T>A	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76128420A>T	VUS	1 lab	e38f02bf21
6:116951678 RSPH4A A>C	6	116951678	116951678	A	C	RSPH4A	c.1879A>C	NM_001010892.2	NP_001010892.1:p.(Asn627His)	NC_000006.11:g.116951678A>C	(Likely) benign	1 lab	e38f3e02c1
2:130910209 SMPD4 C>T	2	130910209	130910209	C	T	SMPD4	c.2520G>A	NM_017951.4	NP_060421.2:p.(Thr840=)	NC_000002.11:g.130910209C>T	(Likely) benign	1 lab	e38fe3e02e
11:6589917 DNHD1 G>A	11	6589917	6589917	G	A	DNHD1	c.12684G>A	NM_144666.2	NP_653267.2:p.(Met4228Ile)	NC_000011.9:g.6589917G>A	(Likely) benign	1 lab	e392c3fbe4
9:2647579 VLDLR C>T	9	2647579	2647579	C	T	VLDLR	c.1809C>T	NM_003383.4	NP_003374.3:p.(Asn603=)	NC_000009.11:g.2647579C>T	(Likely) benign	1 lab	e395af3729
16:87921846 CA5A T>A	16	87921846	87921846	T	A	CA5A	c.807A>T	NM_001739.2	NP_001730.1:p.(Ala269=)	NC_000016.9:g.87921846T>A	(Likely) benign	1 lab	e3964093e4
15:43893708 STRC C>T	15	43893708	43893708	C	T	STRC	c.4587G>A	NM_153700.2	NP_714544.1:p.(Leu1529=)	NC_000015.9:g.43893708C>T	(Likely) benign	1 lab	e398d669d0
16:81118154 GCSH T>C	16	81118154	81118154	T	C	GCSH	c.338A>G	NM_004483.4	NP_004474.2:p.(Tyr113Cys)	NC_000016.9:g.81118154T>C	VUS	1 lab	e39a25aee0
19:44058913 XRCC1 C>T	19	44058913	44058913	C	T	XRCC1	c.299G>A	NM_006297.2	NP_006288.2:p.(Arg100His)	NC_000019.9:g.44058913C>T	VUS	1 lab	e39b64889d
20:5282836 PROKR2 C>T	20	5282836	5282836	C	T	PROKR2	c.1005G>A	NM_144773.3	NP_658986.1:p.(Thr335=)	NC_000020.10:g.5282836C>T	(Likely) benign	1 lab	e39cd7d538
4:85715688 WDFY3 T>C	4	85715688	85715688	T	C	WDFY3	c.3471A>G	NM_014991.4	NP_055806.2:p.(Glu1157=)	NC_000004.11:g.85715688T>C	(Likely) benign	1 lab	e39d9e4a42
1:237919623 RYR2 G>A	1	237919623	237919623	G	A	RYR2	c.11181G>A	NM_001035.2	NP_001026.2:p.(Gln3727=)	NC_000001.10:g.237919623G>A	(Likely) benign	1 lab	e39dfb0532
19:3810816 ZFR2 C>T	19	3810816	3810816	C	T	ZFR2	c.2365G>A	NM_015174.2	NP_055989.1:p.(Val789Met)	NC_000019.9:g.3810816C>T	VUS	1 lab	ebaee9674c
11:607828 PHRF1 T>C	11	607828	607828	T	C	PHRF1	c.2372T>C	NM_001286581.2	NP_001273510.1:p.(Leu791Pro)	NC_000011.9:g.607828T>C	(Likely) benign	1 lab	e3a019f852
14:100405519 EML1 T>C	14	100405519	100405519	T	C	EML1	c.2249-15T>C	NM_001008707.1	NP_001008707.1:p.?	NC_000014.8:g.100405519T>C	(Likely) benign	1 lab	e3a0c72c01
16:84164016 HSDL1 T>C	16	84164016	84164016	T	C	HSDL1	c.241A>G	NM_031463.5	NP_113651.4:p.(Lys81Glu)	NC_000016.9:g.84164016T>C	VUS	1 lab	e3a1e6e269
17:29527511 NF1 T>A	17	29527511	29527511	T	A	NF1	c.960T>A	NM_000267.3	NP_000258.1:p.(Ala320=)	NC_000017.10:g.29527511T>A	(Likely) benign	1 lab	e3a21695da
15:65369315 KBTBD13 C>G	15	65369315	65369315	C	G	KBTBD13	c.162C>G	NM_001101362.2	NP_001094832.1:p.(Ser54Arg)	NC_000015.9:g.65369315C>G	(Likely) benign	1 lab	e3a29ee540
7:6836242 RSPH10B2 C>G	7	6836242	6836242	C	G	RSPH10B2	c.2277C>G	NM_001099697.1	NP_001093167.1:p.(Asn759Lys)	NC_000007.13:g.6836242C>G	VUS	1 lab	e3a4a9588a
15:89862336 POLG G>A	15	89862336	89862336	G	A	POLG	c.3105-6C>T	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89862336G>A	(Likely) benign	1 lab	e3a5fbd4c7
8:72246370 EYA1 G>A	8	72246370	72246370	G	A	EYA1	c.164C>T	NM_000503.5	NP_000494.2:p.(Thr55Met)	NC_000008.10:g.72246370G>A	VUS	1 lab	e3a912fc7a
11:95825371 MAML2 CTGT>C	11	95825371	95825376	CTGT	C	MAML2	c.1821_1823del	NM_032427.4	NP_115803.1:p.(Gln621del)	NC_000011.9:g.95825374_95825376del	(Likely) benign	1 lab	e3a95d2c03
22:50657566 TUBGCP6 T>C	22	50657566	50657566	T	C	TUBGCP6	c.4557A>G	NM_020461.3	NP_065194.2:p.(Ala1519=)	NC_000022.10:g.50657566T>C	(Likely) benign	1 lab	e3a99520dd
22:21064270 PI4KA C>T	22	21064270	21064270	C	T	PI4KA	c.6099G>A	NM_058004.3	NP_477352.3:p.(Ala2033=)	NC_000022.10:g.21064270C>T	(Likely) benign	1 lab	e3aa1f8d34
4:55599358 KIT C>T	4	55599358	55599358	C	T	KIT	c.2484C>T	NM_000222.2	NP_000213.1:p.(Asn828=)	NC_000004.11:g.55599358C>T	(Likely) benign	1 lab	e3abf6bcfe
3:19938257 EFHB T>A	3	19938257	19938257	T	A	EFHB	c.1647A>T	NM_144715.4	NP_653316.3:p.(Ala549=)	NC_000003.11:g.19938257T>A	(Likely) benign	1 lab	e3ad1274c0
2:228563885 SLC19A3 C>T	2	228563885	228563885	C	T	SLC19A3	c.546G>A	NM_025243.3	NP_079519.1:p.(Val182=)	NC_000002.11:g.228563885C>T	(Likely) benign	1 lab	e3b018f212
X:47315334 ZNF41 T>C	X	47315334	47315334	T	C	ZNF41	c.281A>G	NM_007130.3	NP_009061.1:p.(His94Arg)	NC_000023.10:g.47315334T>C	VUS	1 lab	e3b064eca0
13:23914098 SACS T>C	13	23914098	23914098	T	C	SACS	c.3917A>G	NM_014363.5	NP_055178.3:p.(Asn1306Ser)	NC_000013.10:g.23914098T>C	(Likely) benign	1 lab	e3b1012907
9:135782277 TSC1 G>C	9	135782277	135782277	G	C	TSC1	c.1334-55C>G	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135782277G>C	(Likely) benign	1 lab	e3b105e4bb
17:29557383 NF1 C>A	17	29557383	29557383	C	A	NF1	c.3096C>A	NM_000267.3	NP_000258.1:p.(Cys1032Ter)	NC_000017.10:g.29557383C>A	(Likely) pathogenic	1 lab	e3b21e157a
8:48730122 PRKDC C>T	8	48730122	48730122	C	T	PRKDC	c.9446G>A	NM_006904.6	NP_008835.5:p.(Gly3149Asp)	NC_000008.10:g.48730122C>T	(Likely) benign	1 lab	e3b260d1fb
5:171766507 SH3PXD2B C>T	5	171766507	171766507	C	T	SH3PXD2B	c.1602G>A	NM_001017995.2	NP_001017995.1:p.(Gly534=)	NC_000005.9:g.171766507C>T	(Likely) benign	1 lab	e3b2bd54ad
8:100050795 VPS13B G>A	8	100050795	100050795	G	A	VPS13B	c.291+1G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100050795G>A	(Likely) pathogenic	1 lab	e3b2f35d87
7:98990440 ARPC1B C>T	7	98990440	98990440	C	T	ARPC1B	c.930C>T	NM_005720.4	NP_005711.1:p.(Ser310=)	NC_000007.13:g.98990440C>T	(Likely) benign	1 lab	e3b35546b4
X:53112254 TSPYL2 C>T	X	53112254	53112254	C	T	TSPYL2	c.574C>T	NM_022117.3	NP_071400.1:p.(Arg192Trp)	NC_000023.10:g.53112254C>T	VUS	1 lab	e3b364f6d3
7:76240828 POMZP3 C>T	7	76240828	76240828	C	T	POMZP3	c.518G>A	NM_012230.3	NP_036362.3:p.(Arg173Lys)	NC_000007.13:g.76240828C>T	(Likely) benign	1 lab	e3b388864e
4:126355577 FAT4 T>C	4	126355577	126355577	T	C	FAT4	c.7196T>C	NM_024582.4	NP_078858.4:p.(Ile2399Thr)	NC_000004.11:g.126355577T>C	VUS	1 lab	e3b47cff98
9:140128938 SLC34A3 A>G	9	140128938	140128938	A	G	SLC34A3	c.1164A>G	NM_001177317.1	NP_001170788.1:p.(Ala388=)	NC_000009.11:g.140128938A>G	(Likely) benign	1 lab	e3b5967082
X:100611048 BTK G>A	X	100611048	100611048	G	A	BTK	c.1660C>T	NM_001287344.1	NP_001274273.1:p.(Arg554Ter)	NC_000023.10:g.100611048G>A	(Likely) pathogenic	1 lab	e3b5dccde2
19:48339499 CRX G>A	19	48339499	48339499	G	A	CRX	c.101-1G>A	NM_000554.5	NP_000545.1:p.?	NC_000019.9:g.48339499G>A	(Likely) pathogenic	1 lab	e3b6e3e943
9:135781563 TSC1 G>A	9	135781563	135781563	G	A	TSC1	c.1439-37C>T	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135781563G>A	(Likely) benign	1 lab	e3b74cf074
17:76490119 DNAH17 T>G	17	76490119	76490119	T	G	DNAH17	c.6407A>C	NM_173628.3	NP_775899.3:p.(Gln2136Pro)	NC_000017.10:g.76490119T>G	VUS	1 lab	e3b7ada987
11:117307972 DSCAML1 C>T	11	117307972	117307972	C	T	DSCAML1	c.4766G>A	NM_020693.3	NP_065744.2:p.(Arg1589Gln)	NC_000011.9:g.117307972C>T	VUS	1 lab	e3b9c89bff
X:5821764 NLGN4X G>T	X	5821764	5821764	G	T	NLGN4X	c.955C>A	NM_001282145.1	NP_001269074.1:p.(Arg319=)	NC_000023.10:g.5821764G>T	(Likely) benign	1 lab	e3bae4abe5
11:68183896 LRP5 G>C	11	68183896	68183896	G	C	LRP5	c.1185G>C	NM_001291902.1	NP_001278831.1:p.(Leu395=)	NC_000011.9:g.68183896G>C	(Likely) benign	1 lab	e3bafa0f20
17:8135250 CTC1 G>T	17	8135250	8135250	G	T	CTC1	c.2356C>A	NM_025099.6	NP_079375.3:p.(Pro786Thr)	NC_000017.10:g.8135250G>T	(Likely) benign	1 lab	e3bb0cd270
17:29552152 NF1 G>A	17	29552152	29552152	G	A	NF1	c.1885G>A	NM_000267.3	NP_000258.1:p.(Gly629Arg)	NC_000017.10:g.29552152G>A	(Likely) pathogenic	1 lab	e3bd107004
12:100784775 SLC17A8 C>A	12	100784775	100784775	C	A	SLC17A8	c.355-4C>A	NM_139319.2	NP_647480.1:p.?	NC_000012.11:g.100784775C>A	(Likely) benign	1 lab	e3be3d873e
19:1222983 STK11 G>C	19	1222983	1222983	G	C	STK11	c.921-1G>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1222983G>C	(Likely) pathogenic	1 lab	e3beb28a74
1:248789757 OR2T11 T>C	1	248789757	248789757	T	C	OR2T11	c.673A>G	NM_001001964.1	NP_001001964.1:p.(Met225Val)	NC_000001.10:g.248789757T>C	(Likely) benign	1 lab	e3c0a1f0c5
13:95725512 ABCC4 C>T	13	95725512	95725512	C	T	ABCC4	c.2964G>A	NM_005845.4	NP_005836.2:p.(Thr988=)	NC_000013.10:g.95725512C>T	(Likely) benign	1 lab	e3c0c984f7
12:80665459 OTOGL C>T	12	80665459	80665459	C	T	OTOGL	c.2523C>T	NM_173591.3	NP_775862.3:p.(Phe841=)	NC_000012.11:g.80665459C>T	(Likely) benign	1 lab	e3c64c6f94
17:26861767 FOXN1 G>A	17	26861767	26861767	G	A	FOXN1	c.1178G>A	NM_003593.2	NP_003584.2:p.(Gly393Asp)	NC_000017.10:g.26861767G>A	(Likely) benign	1 lab	e3c868190a
16:3712941 TRAP1 G>A	16	3712941	3712941	G	A	TRAP1	c.1736C>T	NM_016292.2	NP_057376.2:p.(Thr579Met)	NC_000016.9:g.3712941G>A	(Likely) benign	1 lab	e3c8a1a513
1:11848143 MTHFR G>A	1	11848143	11848143	G	A	MTHFR	c.*2594C>T	NM_001330358.1	NP_001317287.1:p.?	NC_000001.10:g.11848143G>A	(Likely) benign	1 lab	e3c9dd648c
16:16257044 ABCC6 C>G	16	16257044	16257044	C	G	ABCC6	c.3312G>C	NM_001171.5	NP_001162.4:p.(Leu1104=)	NC_000016.9:g.16257044C>G	(Likely) benign	1 lab	e3caf48feb
16:55866926 CES1 G>A	16	55866926	55866926	G	A	CES1	c.42C>T	NM_001025195.1	NP_001020366.1:p.(Ser14=)	NC_000016.9:g.55866926G>A	(Likely) benign	1 lab	e3cbca8ff2
17:29560085 NF1 C>T	17	29560085	29560085	C	T	NF1	c.3562C>T	NM_000267.3	NP_000258.1:p.(Gln1188Ter)	NC_000017.10:g.29560085C>T	(Likely) pathogenic	1 lab	e3ce9a1250
17:29676263 NF1 TTAGCAGG>T	17	29676263	29676272	TTAGCAGG	T	NF1	c.7318_7321+3del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676266_29676272del	(Likely) pathogenic	1 lab	e3ced51236
12:124819029 NCOR2 G>T	12	124819029	124819029	G	T	NCOR2	c.6546C>A	NM_006312.5	NP_006303.4:p.(Leu2182=)	NC_000012.11:g.124819029G>T	(Likely) benign	1 lab	e3d10c00b1
17:26684394 POLDIP2 T>G	17	26684394	26684394	T	G	POLDIP2	c.80=	NM_015584.5	NP_056399.1:p.(Pro27=)	NC_000017.10:g.26684394T>G	(Likely) benign	1 lab	e3d1651511
X:47498442 ELK1 G>A	X	47498442	47498442	G	A	ELK1	c.506C>T	NM_001114123.2	NP_001107595.1:p.(Pro169Leu)	NC_000023.10:g.47498442G>A	VUS	1 lab	e3d255a4b9
8:118832034 EXT1 C>A	8	118832034	118832034	C	A	EXT1	c.1418-1G>T	NM_000127.2	NP_000118.2:p.?	NC_000008.10:g.118832034C>A	(Likely) pathogenic	1 lab	e3d25e26d6
11:63988526 FERMT3 C>T	11	63988526	63988526	C	T	FERMT3	c.1596C>T	NM_178443.2	NP_848537.1:p.(Ala532=)	NC_000011.9:g.63988526C>T	(Likely) benign	1 lab	e3d2f7b2ac
1:198677352 PTPRC C>T	1	198677352	198677352	C	T	PTPRC	c.995C>T	NM_002838.4	NP_002829.3:p.(Thr332Ile)	NC_000001.10:g.198677352C>T	(Likely) benign	1 lab	e3d40e4311
6:123687319 TRDN G>A	6	123687319	123687319	G	A	TRDN	c.1282C>T	NM_006073.3	NP_006064.2:p.(Arg428Ter)	NC_000006.11:g.123687319G>A	VUS	1 lab	e3d40ef963
X:1409305 CSF2RA G>C	X	1409305	1409305	G	C	CSF2RA	c.549G>C	NM_001161529.1	NP_001155001.1:p.(Leu183=)	NC_000023.10:g.1409305G>C	(Likely) benign	1 lab	e3d547409c
14:68053899 PLEKHH1 C>T	14	68053899	68053899	C	T	PLEKHH1	c.4042C>T	NM_020715.2	NP_065766.1:p.(Arg1348Ter)	NC_000014.8:g.68053899C>T	(Likely) benign	1 lab	e3d552d06f
1:117663732 TRIM45 AG>A	1	117663732	117663737	AG	A	TRIM45	c.91del	NM_025188.4	NP_079464.2:p.(Leu31CysfsTer31)	NC_000001.10:g.117663737del	VUS	1 lab	e3d6457585
X:153609455 EMD C>T	X	153609455	153609455	C	T	EMD	c.663C>T	NM_000117.2	NP_000108.1:p.(Arg221=)	NC_000023.10:g.153609455C>T	(Likely) benign	1 lab	e3d94c0da4
15:44876590 SPG11 G>C	15	44876590	44876590	G	C	SPG11	c.5288C>G	NM_025137.3	NP_079413.3:p.(Pro1763Arg)	NC_000015.9:g.44876590G>C	VUS	1 lab	e3d95ae3cf
5:159820938 FAM200C T>C	5	159820938	159820938	T	C	FAM200C	c.1560A>G	NM_001303251.1	NP_001290180.1:p.(Gln520=)	NC_000005.9:g.159820938T>C	(Likely) benign	1 lab	e3d9604d07
9:136915642 BRD3 C>T	9	136915642	136915642	C	T	BRD3	c.568G>A	NM_007371.3	NP_031397.1:p.(Val190Ile)	NC_000009.11:g.136915642C>T	VUS	1 lab	e3da81a809
18:56002735 NEDD4L G>A	18	56002735	56002735	G	A	NEDD4L	c.728G>A	NM_001144964.1	NP_001138436.1:p.(Arg243His)	NC_000018.9:g.56002735G>A	VUS	1 lab	e3da90650e
7:128475466 FLNC A>G	7	128475466	128475466	A	G	FLNC	c.439A>G	NM_001458.4	NP_001449.3:p.(Met147Val)	NC_000007.13:g.128475466A>G	VUS	1 lab	e3daf8f891
17:41246512 BRCA1 G>A	17	41246512	41246512	G	A	BRCA1	c.1036C>T	NM_007294.3	NP_009225.1:p.(Pro346Ser)	NC_000017.10:g.41246512G>A	(Likely) benign	1 lab	e3db8db499
2:179399764 TTN C>T	2	179399764	179399764	C	T	TTN	c.101578G>A	NM_001267550.1	NP_001254479.1:p.(Val33860Ile)	NC_000002.11:g.179399764C>T	VUS	1 lab	e3dbc0793f
20:42194998 SGK2 G>A	20	42194998	42194998	G	A	SGK2	c.43G>A	NM_016276.3	NP_057360.2:p.(Gly15Ser)	NC_000020.10:g.42194998G>A	(Likely) benign	1 lab	e3dc3c7cd1
X:153670921 GDI1 G>A	X	153670921	153670921	G	A	GDI1	c.1246G>A	NM_001493.2	NP_001484.1:p.(Asp416Asn)	NC_000023.10:g.153670921G>A	VUS	1 lab	e3dec5268d
12:6559753 CD27 C>T	12	6559753	6559753	C	T	CD27	c.495C>T	NM_001242.4	NP_001233.1:p.(Asp165=)	NC_000012.11:g.6559753C>T	(Likely) benign	1 lab	e3dee77fd8
16:1576711 IFT140 T>C	16	1576711	1576711	T	C	IFT140	c.2486A>G	NM_014714.3	NP_055529.2:p.(His829Arg)	NC_000016.9:g.1576711T>C	VUS	1 lab	e3e199f2c3
4:138450825 PCDH18 C>T	4	138450825	138450825	C	T	PCDH18	c.2418G>A	NM_019035.4	NP_061908.1:p.(Val806=)	NC_000004.11:g.138450825C>T	(Likely) benign	1 lab	e3e20ed361
17:7918229 GUCY2D G>C	17	7918229	7918229	G	C	GUCY2D	c.2629G>C	NM_000180.3	NP_000171.1:p.(Glu877Gln)	NC_000017.10:g.7918229G>C	VUS	1 lab	e3e3cef626
16:139847 MISSING C>G	16	139847	139847	C	G	MISSING				NC_000016.9:g.139847C>G	VUS	1 lab	1477331c89
X:13767575 OFD1 G>A	X	13767575	13767575	G	A	OFD1	c.438G>A	NM_001330210.1	NP_001317139.1:p.(Arg146=)	NC_000023.10:g.13767575G>A	(Likely) benign	1 lab	e3e7517d32
12:53202560 KRT4 G>A	12	53202560	53202560	G	A	KRT4	c.909C>T	NM_002272.3	NP_002263.3:p.(Asp303=)	NC_000012.11:g.53202560G>A	(Likely) benign	1 lab	e3e9ad8977
3:186383923 HRG C>A	3	186383923	186383923	C	A	HRG	c.103C>A	NM_000412.4	NP_000403.1:p.(Leu35Ile)	NC_000003.11:g.186383923C>A	(Likely) benign	1 lab	e3eadc5305
20:31023041 ASXL1 T>C	20	31023041	31023041	T	C	ASXL1	c.2526T>C	NM_015338.5	NP_056153.2:p.(Asn842=)	NC_000020.10:g.31023041T>C	(Likely) benign	1 lab	e3eb8de355
8:61707666 CHD7 G>A	8	61707666	61707666	G	A	CHD7				NC_000008.10:g.61707666G>A	VUS	1 lab	e3ec12d914
1:1168553 B3GALT6 C>A	1	1168553	1168553	C	A	B3GALT6	c.895C>A	NM_080605.4	NP_542172.2:p.(Leu299Met)	NC_000001.10:g.1168553C>A	VUS	1 lab	e3ee06efa9
1:153907305 DENND4B G>GC	1	153907305	153907306	G	GC	DENND4B	c.2703_2704insG	NM_014856.3	NP_055671.2:p.(Gln902AlafsTer62)	NC_000001.10:g.153907305_153907306insC	(Likely) benign	1 lab	e3ef9a3a36
19:8171051 FBN3 C>A	19	8171051	8171051	C	A	FBN3	c.4754G>T	NM_032447.5	NP_115823.3:p.(Ser1585Ile)	NC_000019.9:g.8171051C>A	VUS	1 lab	e3efd8e0cb
12:81046563 MISSING C>G	12	81046563	81046563	C	G	MISSING				NC_000012.11:g.81046563C>G	VUS	1 lab	e3f0526ad9
8:23174562 LOXL2 C>T	8	23174562	23174562	C	T	LOXL2	c.1536G>A	NM_002318.2	NP_002309.1:p.(Ser512=)	NC_000008.10:g.23174562C>T	(Likely) benign	1 lab	e3f056319a
9:2644954 VLDLR C>T	9	2644954	2644954	C	T	VLDLR	c.1187-3C>T	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2644954C>T	(Likely) benign	1 lab	e3f2648b5f
6:56481658 DST C>A	6	56481658	56481658	C	A	DST	c.6607G>T	NM_001723.5	NP_001714.1:p.(Glu2203Ter)	NC_000006.11:g.56481658C>A	VUS	1 lab	e3f2d1e15e
15:65273237 SPG21 A>G	15	65273237	65273237	A	G	SPG21	c.190T>C	NM_016630.6	NP_057714.1:p.(Leu64=)	NC_000015.9:g.65273237A>G	(Likely) benign	1 lab	e3f46df48f
18:48593387 SMAD4 A>G	18	48593387	48593387	A	G	SMAD4	c.1140-2A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48593387A>G	(Likely) pathogenic	1 lab	e3fa2f16cd
11:108202171 ATM A>G	11	108202171	108202171	A	G	ATM	c.7516A>G	NM_000051.3	NP_000042.3:p.(Arg2506Gly)	NC_000011.9:g.108202171A>G	VUS	1 lab	e3fa5b4ea2
X:15373323 VEGFD C>T	X	15373323	15373323	C	T	VEGFD	c.590G>A	NM_004469.4	NP_004460.1:p.(Arg197His)	NC_000023.10:g.15373323C>T	(Likely) benign	1 lab	e3fbeac00f
6:129794482 LAMA2 C>T	6	129794482	129794482	C	T	LAMA2	c.7424C>T	NM_000426.3	NP_000417.2:p.(Thr2475Met)	NC_000006.11:g.129794482C>T	VUS	1 lab	e3fe9bbef5
16:71015475 HYDIN C>T	16	71015475	71015475	C	T	HYDIN	c.4333-4G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71015475C>T	(Likely) benign	1 lab	e3fed165ce
16:75579283 TMEM231 C>T	16	75579283	75579283	C	T	TMEM231	c.549G>A	NM_001077418.3	NP_001070886.1:p.(Pro183=)	NC_000016.9:g.75579283C>T	(Likely) benign	1 lab	e3ff3f6809
11:66329099 ACTN3 C>T	11	66329099	66329099	C	T	ACTN3	c.2295C>T	NM_001258371.2	NP_001245300.2:p.(Tyr765=)	NC_000011.9:g.66329099C>T	(Likely) benign	1 lab	e4001bb80c
10:50667278 ERCC6 A>C	10	50667278	50667278	A	C	ERCC6	c.4065T>G	NM_001346440.1	NP_001333369.1:p.(Asp1355Glu)	NC_000010.10:g.50667278A>C	VUS	1 lab	e402604646
12:56087867 ITGA7 TC>T	12	56087867	56087868	TC	T	ITGA7	c.2472del	NM_002206.3	NP_002197.2:p.(Arg825GlyfsTer167)	NC_000012.11:g.56087868del	(Likely) pathogenic	1 lab	e402fbc742
16:89258170 CDH15 C>G	16	89258170	89258170	C	G	CDH15	c.1483C>G	NM_004933.2	NP_004924.1:p.(Pro495Ala)	NC_000016.9:g.89258170C>G	(Likely) benign	1 lab	e404ef76ab
X:41075223 USP9X C>T	X	41075223	41075223	C	T	USP9X	c.5403C>T	NM_001039590.2	NP_001034679.2:p.(Asp1801=)	NC_000023.10:g.41075223C>T	(Likely) benign	1 lab	e4070e0007
19:42796743 CIC C>G	19	42796743	42796743	C	G	CIC	c.5928C>G	NM_001304815.1	NP_001291744.1:p.(Pro1976=)	NC_000019.9:g.42796743C>G	(Likely) benign	1 lab	e40720fbef
X:134989925 SAGE1 G>C	X	134989925	134989925	G	C	SAGE1	c.1084G>C	NM_018666.2	NP_061136.2:p.(Ala362Pro)	NC_000023.10:g.134989925G>C	(Likely) benign	1 lab	e40971fcef
8:102505085 GRHL2 ATGTTTT>A	8	102505085	102505098	ATGTTTT	A	GRHL2	c.20+76_20+81del	NM_024915.4	NP_079191.2:p.?	NC_000008.10:g.102505093_102505098del	(Likely) benign	1 lab	e40a86b4c6
10:55600152 PCDH15 G>C	10	55600152	55600152	G	C	PCDH15				NC_000010.10:g.55600152G>C	VUS	1 lab	e40bb8f1b5
8:95182735 CDH17 G>A	8	95182735	95182735	G	A	CDH17	c.956C>T	NM_001144663.1	NP_001138135.1:p.(Pro319Leu)	NC_000008.10:g.95182735G>A	(Likely) benign	1 lab	e40d416ef2
15:31369129 TRPM1 G>A	15	31369129	31369129	G	A	TRPM1	c.113C>T	NM_001252020.1	NP_001238949.1:p.(Pro38Leu)	NC_000015.9:g.31369129G>A	VUS	1 lab	e40e8bc7c3
19:45532195 RELB C>T	19	45532195	45532195	C	T	RELB	c.936C>T	NM_006509.4	NP_006500.2:p.(Ser312=)	NC_000019.9:g.45532195C>T	(Likely) benign	1 lab	e40f2380cb
14:23897945 MYH7 C>G	14	23897945	23897945	C	G	MYH7	c.1408-66G>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23897945C>G	(Likely) benign	1 lab	e40f47ae34
9:139326304 INPP5E G>A	9	139326304	139326304	G	A	INPP5E	c.1521C>T	NM_019892.5	NP_063945.2:p.(His507=)	NC_000009.11:g.139326304G>A	(Likely) benign	1 lab	e40f9907a8
X:14863328 FANCB C>T	X	14863328	14863328	C	T	FANCB	c.1577G>A	NM_001018113.1	NP_001018123.1:p.(Arg526Lys)	NC_000023.10:g.14863328C>T	VUS	1 lab	e4147d616d
X:101911003 GPRASP1 G>A	X	101911003	101911003	G	A	GPRASP1	c.2162G>A	NM_001184727.1	NP_001171656.1:p.(Gly721Glu)	NC_000023.10:g.101911003G>A	(Likely) benign	1 lab	e414f7c76e
1:237532899 RYR2 T>C	1	237532899	237532899	T	C	RYR2	c.375T>C	NM_001035.2	NP_001026.2:p.(Tyr125=)	NC_000001.10:g.237532899T>C	(Likely) benign	1 lab	e41699c5d3
17:74152290 RNF157 C>A	17	74152290	74152290	C	A	RNF157	c.1525+1G>T	NM_052916.3	NP_443148.1:p.?	NC_000017.10:g.74152290C>A	VUS	1 lab	e416c20a2f
11:17523530 USH1C G>T	11	17523530	17523530	G	T	USH1C	c.2185-3C>A	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17523530G>T	VUS	1 lab	e41a7da09e
2:1895923 MYT1L C>T	2	1895923	1895923	C	T	MYT1L	c.2169G>A	NM_001329851.1	NP_001316780.1:p.(Thr723=)	NC_000002.11:g.1895923C>T	(Likely) benign	1 lab	e41cddfb44
X:18807265 PPEF1 G>A	X	18807265	18807265	G	A	PPEF1	c.939G>A	NM_006240.2	NP_006231.2:p.(Thr313=)	NC_000023.10:g.18807265G>A	(Likely) benign	1 lab	e41eecfc6f
X:51150304 EZHIP C>A	X	51150304	51150304	C	A	EZHIP	c.436C>A	NM_203407.3	NP_981952.1:p.(Arg146Ser)	NC_000023.10:g.51150304C>A	(Likely) benign	1 lab	e41ffae584
20:49510233 ADNP C>T	20	49510233	49510233	C	T	ADNP	c.1018G>A	NM_001282531.2	NP_001269460.1:p.(Gly340Ser)	NC_000020.10:g.49510233C>T	VUS	1 lab	e42012e10e
10:61828560 ANK3 C>T	10	61828560	61828560	C	T	ANK3	c.12079G>A	NM_020987.5	NP_066267.2:p.(Asp4027Asn)	NC_000010.10:g.61828560C>T	VUS	1 lab	e423d96830
X:18622124 CDKL5 C>T	X	18622124	18622124	C	T	CDKL5	c.1080C>T	NM_001323289.1	NP_001310218.1:p.(Leu360=)	NC_000023.10:g.18622124C>T	(Likely) benign	1 lab	e4255f2fd5
5:86564867 RASA1 G>A	5	86564867	86564867	G	A	RASA1	c.3G>A	NM_022650.2	NP_072179.1:p.(Met1?)	NC_000005.9:g.86564867G>A	VUS	1 lab	e425e4b123
3:119887113 GPR156 G>C	3	119887113	119887113	G	C	GPR156	c.1211C>G	NM_153002.2	NP_694547.2:p.(Ser404Cys)	NC_000003.11:g.119887113G>C	(Likely) benign	1 lab	e4268266d4
22:38119886 TRIOBP C>T	22	38119886	38119886	C	T	TRIOBP	c.1323C>T	NM_001039141.2	NP_001034230.1:p.(Ser441=)	NC_000022.10:g.38119886C>T	(Likely) benign	1 lab	e4273b9dce
7:128526758 KCP C>T	7	128526758	128526758	C	T	KCP	c.2723G>A	NM_001366122.1	NP_001353051.1:p.(Gly908Glu)	NC_000007.13:g.128526758C>T	VUS	1 lab	e42750af27
15:68504022 CLN6 C>T	15	68504022	68504022	C	T	CLN6	c.477G>A	NM_017882.2	NP_060352.1:p.(Pro159=)	NC_000015.9:g.68504022C>T	(Likely) benign	1 lab	e427ec6712
20:23028709 THBD G>A	20	23028709	23028709	G	A	THBD	c.1433C>T	NM_000361.2	NP_000352.1:p.(Thr478Ile)	NC_000020.10:g.23028709G>A	(Likely) benign	1 lab	e42847b095
11:44129270 EXT2 C>T	11	44129270	44129270	C	T	EXT2	c.8C>T	NM_001178083.1	NP_001171554.1:p.(Ala3Val)	NC_000011.9:g.44129270C>T	VUS	1 lab	e42b3ff335
16:2136739 TSC2 T>C	16	2136739	2136739	T	C	TSC2	c.4856T>C	NM_000548.3	NP_000539.2:p.(Phe1619Ser)	NC_000016.9:g.2136739T>C	(Likely) pathogenic	1 lab	e42c3e6ae0
11:1260732 MUC5B A>G	11	1260732	1260732	A	G	MUC5B	c.3519A>G	NM_002458.2	NP_002449.2:p.(Ala1173=)	NC_000011.9:g.1260732A>G	VUS	1 lab	e42ccfa7db
15:100537740 ADAMTS17 C>T	15	100537740	100537740	C	T	ADAMTS17	c.2646G>A	NM_139057.3	NP_620688.2:p.(Gln882=)	NC_000015.9:g.100537740C>T	(Likely) benign	1 lab	e42d95c957
9:135798828 TSC1 T>C	9	135798828	135798828	T	C	TSC1	c.415A>G	NM_000368.4	NP_000359.1:p.(Met139Val)	NC_000009.11:g.135798828T>C	(Likely) benign	1 lab	e42f65c508
17:11774998 DNAH9 C>T	17	11774998	11774998	C	T	DNAH9	c.10137C>T	NM_001372.3	NP_001363.2:p.(Asp3379=)	NC_000017.10:g.11774998C>T	(Likely) benign	1 lab	e42f6eb133
X:47045777 RBM10 G>A	X	47045777	47045777	G	A	RBM10	c.2853G>A	NM_001204468.1	NP_001191397.1:p.(Thr951=)	NC_000023.10:g.47045777G>A	(Likely) benign	1 lab	e42f8fd0b7
12:109577344 ACACB A>G	12	109577344	109577344	A	G	ACACB	c.134A>G	NM_001093.3	NP_001084.3:p.(Gln45Arg)	NC_000012.11:g.109577344A>G	(Likely) benign	1 lab	e43271b378
9:79952164 VPS13A C>T	9	79952164	79952164	C	T	VPS13A	c.6096-7C>T	NM_033305.2	NP_150648.2:p.?	NC_000009.11:g.79952164C>T	(Likely) benign	1 lab	e433b32987
X:57337050 FAAH2 T>C	X	57337050	57337050	T	C	FAAH2	c.300T>C	NM_174912.3	NP_777572.2:p.(Ala100=)	NC_000023.10:g.57337050T>C	(Likely) benign	1 lab	e434c0e1f4
6:170154127 ERMARD A>G	6	170154127	170154127	A	G	ERMARD	c.174A>G	NM_018341.2	NP_060811.1:p.(Ser58=)	NC_000006.11:g.170154127A>G	VUS	1 lab	e434d83e46
15:73027543 BBS4 T>C	15	73027543	73027543	T	C	BBS4	c.1106+20T>C	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.73027543T>C	(Likely) benign	1 lab	e43528765b
4:151231429 LRBA C>T	4	151231429	151231429	C	T	LRBA	c.7801G>A	NM_001199282.2	NP_001186211.2:p.(Val2601Ile)	NC_000004.11:g.151231429C>T	(Likely) benign	1 lab	e43803f347
X:41333626 NYX T>C	X	41333626	41333626	T	C	NYX	c.920T>C	NM_022567.2	NP_072089.1:p.(Leu307Pro)	NC_000023.10:g.41333626T>C	(Likely) pathogenic	1 lab	e439b6fa9b
4:1730213 TACC3 G>A	4	1730213	1730213	G	A	TACC3	c.1084G>A	NM_006342.3	NP_006333.1:p.(Gly362Ser)	NC_000004.11:g.1730213G>A	(Likely) benign	1 lab	e43a1936b3
11:6638858 TPP1 G>A	11	6638858	6638858	G	A	TPP1	c.379C>T	NM_000391.3	NP_000382.3:p.(Arg127Ter)	NC_000011.9:g.6638858G>A	(Likely) pathogenic	1 lab	e43a86d70f
14:76447155 TGFB3 T>G	14	76447155	76447155	T	G	TGFB3	c.82A>C	NM_001329939.1	NP_001316868.1:p.(Thr28Pro)	NC_000014.8:g.76447155T>G	VUS	1 lab	e43ce9943c
9:21207058 IFNA10 C>T	9	21207058	21207058	C	T	IFNA10	c.39G>A	NM_002171.2	NP_002162.1:p.(Val13=)	NC_000009.11:g.21207058C>T	(Likely) benign	1 lab	e43df02810
3:48614321 COL7A1 C>G	3	48614321	48614321	C	G	COL7A1	c.5600G>C	NM_000094.3	NP_000085.1:p.(Arg1867Thr)	NC_000003.11:g.48614321C>G	VUS	1 lab	e43e97b763
3:97868639 OR5H14 C>G	3	97868639	97868639	C	G	OR5H14	c.410C>G	NM_001005514.1	NP_001005514.1:p.(Thr137Ser)	NC_000003.11:g.97868639C>G	(Likely) benign	1 lab	e43fe0c521
11:110134727 RDX T>C	11	110134727	110134727	T	C	RDX	c.425A>G	NM_002906.3	NP_002897.1:p.(His142Arg)	NC_000011.9:g.110134727T>C	VUS	1 lab	e440976ef0
22:30051626 NF2 GAA>G	22	30051626	30051628	GAA	G	NF2	c.561_562del	NM_000268.4	NP_000259.1:p.(Arg187SerfsTer15)	NC_000022.10:g.30051627_30051628del	(Likely) pathogenic	1 lab	e441fe2eaa
16:89806479 FANCA T>G	16	89806479	89806479	T	G	FANCA	c.3857A>C	NM_001286167.2	NP_001273096.1:p.(His1286Pro)	NC_000016.9:g.89806479T>G	VUS	1 lab	e4449d4e73
2:238249358 COL6A3 C>T	2	238249358	238249358	C	T	COL6A3	c.8201G>A	NM_004369.3	NP_004360.2:p.(Arg2734Gln)	NC_000002.11:g.238249358C>T	VUS	1 lab	e4453a0b9c
7:150878416 ASB10 C>T	7	150878416	150878416	C	T	ASB10	c.714G>A	NM_001142460.1	NP_001135932.2:p.(Gly238=)	NC_000007.13:g.150878416C>T	(Likely) benign	1 lab	e4459e43f1
6:132967123 TAAR1 T>C	6	132967123	132967123	T	C	TAAR1	c.20A>G	NM_138327.2	NP_612200.1:p.(Asn7Ser)	NC_000006.11:g.132967123T>C	VUS	1 lab	e445d590ae
6:72962473 RIMS1 G>A	6	72962473	72962473	G	A	RIMS1	c.2708G>A	NM_014989.5	NP_055804.2:p.(Arg903Gln)	NC_000006.11:g.72962473G>A	VUS	1 lab	e4468e5615
9:215028 DOCK8 A>G	9	215028	215028	A	G	DOCK8	c.52A>G	NM_203447.3	NP_982272.2:p.(Arg18Gly)	NC_000009.11:g.215028A>G	VUS	1 lab	e44808c869
7:128846367 SMO G>C	7	128846367	128846367	G	C	SMO	c.1203G>C	NM_005631.4	NP_005622.1:p.(Ala401=)	NC_000007.13:g.128846367G>C	(Likely) benign	1 lab	e448f48720
22:42322730 TNFRSF13C G>T	22	42322730	42322730	G	T	TNFRSF13C	c.48C>A	NM_052945.3	NP_443177.1:p.(Pro16=)	NC_000022.10:g.42322730G>T	(Likely) benign	1 lab	e44904edc0
5:180046356 FLT4 C>T	5	180046356	180046356	C	T	FLT4	c.2658G>A	NM_182925.4	NP_891555.2:p.(Thr886=)	NC_000005.9:g.180046356C>T	(Likely) benign	1 lab	e44a3f4d83
4:77661450 SHROOM3 C>T	4	77661450	77661450	C	T	SHROOM3	c.2124C>T	NM_020859.3	NP_065910.3:p.(Ala708=)	NC_000004.11:g.77661450C>T	(Likely) benign	1 lab	e44a460db0
X:73961545 NEXMIF C>T	X	73961545	73961545	C	T	NEXMIF	c.2847G>A	NM_001008537.2	NP_001008537.1:p.(Leu949=)	NC_000023.10:g.73961545C>T	(Likely) benign	1 lab	e44c9d60ff
3:167506993 SERPINI1 T>C	3	167506993	167506993	T	C	SERPINI1	c.77T>C	NM_005025.4	NP_005016.1:p.(Ile26Thr)	NC_000003.11:g.167506993T>C	(Likely) benign	1 lab	e44d17689b
12:58197116 AVIL C>T	12	58197116	58197116	C	T	AVIL	c.1876G>A	NM_006576.3	NP_006567.3:p.(Gly626Ser)	NC_000012.11:g.58197116C>T	VUS	1 lab	e44d5ca644
X:49084508 CACNA1F C>T	X	49084508	49084508	C	T	CACNA1F	c.1108G>A	NM_005183.3	NP_005174.2:p.(Val370Ile)	NC_000023.10:g.49084508C>T	VUS	1 lab	e44f71a2b6
16:15814139 MYH11 C>T	16	15814139	15814139	C	T	MYH11	c.4843G>A	NM_001040113.1	NP_001035202.1:p.(Glu1615Lys)	NC_000016.9:g.15814139C>T	VUS	1 lab	e452afbe30
12:121891044 KDM2B C>T	12	121891044	121891044	C	T	KDM2B	c.1838G>A	NM_032590.4	NP_115979.3:p.(Cys613Tyr)	NC_000012.11:g.121891044C>T	VUS	1 lab	e45374f715
10:100189628 HPS1 G>A	10	100189628	100189628	G	A	HPS1	c.787C>T	NM_001322477.1	NP_001309406.1:p.(Arg263Trp)	NC_000010.10:g.100189628G>A	VUS	1 lab	e45832b92b
11:124744019 ROBO3 C>T	11	124744019	124744019	C	T	ROBO3	c.1838C>T	NM_022370.3	NP_071765.2:p.(Thr613Ile)	NC_000011.9:g.124744019C>T	VUS	1 lab	e45992aefb
16:78143724 WWOX T>C	16	78143724	78143724	T	C	WWOX	c.222T>C	NM_016373.3	NP_057457.1:p.(Phe74=)	NC_000016.9:g.78143724T>C	(Likely) benign	1 lab	e45a801aa2
19:42399498 ARHGEF1 G>A	19	42399498	42399498	G	A	ARHGEF1	c.999G>A	NM_199002.1	NP_945353.1:p.(Gly333=)	NC_000019.9:g.42399498G>A	(Likely) benign	1 lab	e45a88bb96
17:29665805 NF1 AC>A	17	29665805	29665806	AC	A	NF1	c.6904del	NM_001042492.3	NP_001035957.1:p.(Gln2302SerfsTer17)	NC_000017.10:g.29665806del	(Likely) pathogenic	1 lab	e45aa6b70e
11:20067144 NAV2 T>G	11	20067144	20067144	T	G	NAV2	c.3830T>G	NM_182964.6	NP_892009.3:p.(Val1277Gly)	NC_000011.9:g.20067144T>G	VUS	1 lab	e45b844b6e
1:32050532 TINAGL1 C>T	1	32050532	32050532	C	T	TINAGL1	c.752C>T	NM_022164.2	NP_071447.1:p.(Thr251Met)	NC_000001.10:g.32050532C>T	VUS	1 lab	e45c815937
16:72832117 ZFHX3 A>G	16	72832117	72832117	A	G	ZFHX3	c.4464T>C	NM_006885.3	NP_008816.3:p.(Ile1488=)	NC_000016.9:g.72832117A>G	(Likely) benign	1 lab	e45dc04c57
6:144794896 UTRN A>G	6	144794896	144794896	A	G	UTRN	c.3107A>G	NM_007124.2	NP_009055.2:p.(Lys1036Arg)	NC_000006.11:g.144794896A>G	VUS	1 lab	e4611dc2e1
13:111358440 CARS2 T>C	13	111358440	111358440	T	C	CARS2	c.1A>G	NM_024537.3	NP_078813.1:p.(Met1?)	NC_000013.10:g.111358440T>C	VUS	1 lab	e4625075a2
16:24581172 RBBP6 G>T	16	24581172	24581172	G	T	RBBP6	c.3161G>T	NM_006910.5	NP_008841.2:p.(Arg1054Leu)	NC_000016.9:g.24581172G>T	VUS	1 lab	e4644106d6
21:46897861 COL18A1 T>C	21	46897861	46897861	T	C	COL18A1	c.1743T>C	NM_030582.4	NP_085059.2:p.(Pro581=)	NC_000021.8:g.46897861T>C	(Likely) benign	1 lab	e468ba98a3
16:3779162 CREBBP G>A	16	3779162	3779162	G	A	CREBBP	c.5886C>T	NM_004380.2	NP_004371.2:p.(Ile1962=)	NC_000016.9:g.3779162G>A	(Likely) benign	1 lab	e46a07cd75
16:70929967 HYDIN T>C	16	70929967	70929967	T	C	HYDIN	c.9065A>G	NM_001270974.2	NP_001257903.1:p.(Asn3022Ser)	NC_000016.9:g.70929967T>C	VUS	1 lab	e46a736e8e
16:2546642 TBC1D24 G>A	16	2546642	2546642	G	A	TBC1D24	c.493G>A	NM_001199107.1	NP_001186036.1:p.(Gly165Ser)	NC_000016.9:g.2546642G>A	VUS	1 lab	e46ac66216
18:5891809 TMEM200C C>A	18	5891809	5891809	C	A	TMEM200C	c.254G>T	NM_001080209.2	NP_001073678.1:p.(Gly85Val)	NC_000018.9:g.5891809C>A	VUS	1 lab	e46ae9ccb9
2:215914533 ABCA12 C>T	2	215914533	215914533	C	T	ABCA12	c.510G>A	NM_173076.2	NP_775099.2:p.(Leu170=)	NC_000002.11:g.215914533C>T	(Likely) benign	1 lab	e46d0b4298
3:184039061 EIF4G1 A>G	3	184039061	184039061	A	G	EIF4G1	c.698-9A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184039061A>G	(Likely) benign	1 lab	e46f81e9af
2:109380678 RANBP2 G>C	2	109380678	109380678	G	C	RANBP2	c.3683G>C	NM_006267.4	NP_006258.3:p.(Gly1228Ala)	NC_000002.11:g.109380678G>C	VUS	1 lab	e46ff1e2ba
14:74727475 VSX2 T>A	14	74727475	74727475	T	A	VSX2	c.939T>A	NM_182894.2	NP_878314.1:p.(Ala313=)	NC_000014.8:g.74727475T>A	(Likely) benign	1 lab	e46ffd25c8
2:220104396 GLB1L A>G	2	220104396	220104396	A	G	GLB1L	c.789T>C	NM_001286423.2	NP_001273352.1:p.(Ser263=)	NC_000002.11:g.220104396A>G	(Likely) benign	1 lab	e470947d89
X:152728111 HAUS7 T>C	X	152728111	152728111	T	C	HAUS7	c.341A>G	NM_017518.7	NP_059988.3:p.(His114Arg)	NC_000023.10:g.152728111T>C	(Likely) benign	1 lab	e47184f4cc
1:16345834 HSPB7 C>CT	1	16345834	16345835	C	CT	HSPB7	c.130dup	NM_001349682.1	NP_001336611.1:p.(Ser44LysfsTer31)	NC_000001.10:g.16345835dup	VUS	1 lab	e471fa2c3b
6:43337000 ZNF318 G>A	6	43337000	43337000	G	A	ZNF318	c.104C>T	NM_014345.3	NP_055160.2:p.(Pro35Leu)	NC_000006.11:g.43337000G>A	VUS	1 lab	e472c47020
X:67937637 STARD8 G>A	X	67937637	67937637	G	A	STARD8	c.881G>A	NM_001142503.2	NP_001135975.1:p.(Arg294Gln)	NC_000023.10:g.67937637G>A	VUS	1 lab	e473c8c03f
2:171358369 MYO3B C>G	2	171358369	171358369	C	G	MYO3B	c.3364C>G	NM_138995.4	NP_620482.3:p.(Gln1122Glu)	NC_000002.11:g.171358369C>G	VUS	1 lab	e478ec97e1
16:49671681 ZNF423 C>T	16	49671681	49671681	C	T	ZNF423	c.1202G>A	NM_001271620.2	NP_001258549.1:p.(Arg401His)	NC_000016.9:g.49671681C>T	VUS	1 lab	e47a5a9fcb
11:108160434 ATM TTA>T	11	108160434	108160437	TTA	T	ATM	c.4344_4345del	NM_000051.4	NP_000042.3:p.(Leu1448PhefsTer42)	NC_000011.9:g.108160436_108160437del	(Likely) pathogenic	1 lab	e47cae71ac
18:31251809 ASXL3 C>T	18	31251809	31251809	C	T	ASXL3	c.694C>T	NM_030632.2	NP_085135.1:p.(Arg232Ter)	NC_000018.9:g.31251809C>T	(Likely) pathogenic	1 lab	e47d75d33d
11:78369403 TENM4 G>A	11	78369403	78369403	G	A	TENM4	c.8010C>T	NM_001098816.2	NP_001092286.2:p.(Tyr2670=)	NC_000011.9:g.78369403G>A	(Likely) benign	1 lab	e47dedc5c3
10:91486152 KIF20B T>A	10	91486152	91486152	T	A	KIF20B	c.2104T>A	NM_001284259.1	NP_001271188.1:p.(Ser702Thr)	NC_000010.10:g.91486152T>A	(Likely) benign	1 lab	e47ea16810
18:29126419 DSG2 GC>G	18	29126419	29126424	GC	G	DSG2	c.3075del	NM_001943.5	NP_001934.2:p.(Ser1026AlafsTer13)	NC_000018.9:g.29126424del	(Likely) pathogenic	1 lab	e47f2d093f
2:216248748 FN1 C>T	2	216248748	216248748	C	T	FN1	c.4889G>A	NM_212482.2	NP_997647.1:p.(Arg1630Gln)	NC_000002.11:g.216248748C>T	(Likely) benign	1 lab	e47fc7f5c7
11:57097859 SSRP1 G>T	11	57097859	57097859	G	T	SSRP1	c.1341C>A	NM_003146.3	NP_003137.1:p.(Asp447Glu)	NC_000011.9:g.57097859G>T	(Likely) benign	1 lab	e4801d71f0
16:75579763 TMEM231 G>A	16	75579763	75579763	G	A	TMEM231	c.558C>T	NM_001077416.2	NP_001070884.2:p.(Leu186=)	NC_000016.9:g.75579763G>A	(Likely) benign	1 lab	e48081b050
18:7013805 LAMA1 G>A	18	7013805	7013805	G	A	LAMA1	c.3363+9C>T	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7013805G>A	(Likely) benign	1 lab	e481ecc685
8:17739672 FGL1 G>T	8	17739672	17739672	G	T	FGL1	c.80C>A	NM_201553.1	NP_963847.1:p.(Ala27Asp)	NC_000008.10:g.17739672G>T	(Likely) benign	1 lab	e483b23c7d
17:67215774 ABCA10 T>A	17	67215774	67215774	T	A	ABCA10	c.442A>T	NM_080282.3	NP_525021.3:p.(Ile148Leu)	NC_000017.10:g.67215774T>A	(Likely) benign	1 lab	e4842fb319
7:103123322 RELN G>A	7	103123322	103123322	G	A	RELN	c.10278C>T	NM_005045.3	NP_005036.2:p.(Val3426=)	NC_000007.13:g.103123322G>A	VUS	1 lab	e484ad5d36
2:97462840 CNNM4 C>T	2	97462840	97462840	C	T	CNNM4	c.1494C>T	NM_020184.3	NP_064569.3:p.(Asp498=)	NC_000002.11:g.97462840C>T	(Likely) benign	1 lab	e4856c0541
17:78078725 GAA A>AT	17	78078725	78078726	A	AT	GAA	c.340_341insT	NM_000152.3	NP_000143.2:p.(Lys114IlefsTer32)	NC_000017.10:g.78078725_78078726insT	(Likely) pathogenic	1 lab	e486b6d81f
15:65295453 MTFMT GA>G	15	65295453	65295455	GA	G	MTFMT	c.1116del	NM_139242.4	NP_640335.2:p.(Pro373GlnfsTer19)	NC_000015.9:g.65295455del	VUS	1 lab	e4888b0eae
12:48368115 COL2A1 C>G	12	48368115	48368115	C	G	COL2A1	c.4075-1G>C	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48368115C>G	(Likely) pathogenic	1 lab	e488d30c8e
X:153670766 GDI1 T>C	X	153670766	153670766	T	C	GDI1	c.1182T>C	NM_001493.2	NP_001484.1:p.(Cys394=)	NC_000023.10:g.153670766T>C	(Likely) benign	1 lab	e4893598f9
X:48891729 TFE3 C>T	X	48891729	48891729	C	T	TFE3	c.923G>A	NM_006521.5	NP_006512.2:p.(Ser308Asn)	NC_000023.10:g.48891729C>T	(Likely) benign	1 lab	e48a3f4fed
11:94861636 ENDOD1 A>G	11	94861636	94861636	A	G	ENDOD1	c.396A>G	NM_015036.3	NP_055851.1:p.(Thr132=)	NC_000011.9:g.94861636A>G	(Likely) benign	1 lab	e48a80a1a4
10:90767567 FAS A>C	10	90767567	90767567	A	C	FAS	c.307A>C	NM_152872.3	NP_690611.1:p.(Arg103=)	NC_000010.10:g.90767567A>C	(Likely) benign	1 lab	e48af92623
7:33573576 BBS9 A>G	7	33573576	33573576	A	G	BBS9	c.2036A>G	NM_001348038.2	NP_001334967.1:p.(Glu679Gly)	NC_000007.13:g.33573576A>G	VUS	1 lab	e48b99bc2c
19:7593558 MCOLN1 G>A	19	7593558	7593558	G	A	MCOLN1	c.953G>A	NM_020533.2	NP_065394.1:p.(Arg318His)	NC_000019.9:g.7593558G>A	VUS	1 lab	e48d2e04e0
8:87588303 CNGB3 T>C	8	87588303	87588303	T	C	CNGB3	c.2159A>G	NM_019098.4	NP_061971.3:p.(Gln720Arg)	NC_000008.10:g.87588303T>C	(Likely) benign	1 lab	e48df5cbd3
12:124281348 DNAH10 A>G	12	124281348	124281348	A	G	DNAH10	c.1778A>G	NM_207437.3	NP_997320.2:p.(Gln593Arg)	NC_000012.11:g.124281348A>G	VUS	1 lab	e48dfb8e87
4:178352903 AGA C>T	4	178352903	178352903	C	T	AGA	c.1000G>A	NM_000027.3	NP_000018.2:p.(Glu334Lys)	NC_000004.11:g.178352903C>T	(Likely) benign	1 lab	e48f941456
13:111125346 COL4A2 C>T	13	111125346	111125346	C	T	COL4A2	c.2274C>T	NM_001846.3	NP_001837.2:p.(Ile758=)	NC_000013.10:g.111125346C>T	(Likely) benign	1 lab	e48fc7009a
15:28441442 HERC2 C>G	15	28441442	28441442	C	G	HERC2	c.8179G>C	NM_004667.5	NP_004658.3:p.(Asp2727His)	NC_000015.9:g.28441442C>G	VUS	1 lab	e490386699
16:71015341 HYDIN T>C	16	71015341	71015341	T	C	HYDIN	c.4463A>G	NM_001270974.2	NP_001257903.1:p.(Glu1488Gly)	NC_000016.9:g.71015341T>C	VUS	1 lab	e491b2f551
16:31105945 VKORC1 C>A	16	31105945	31105945	C	A	VKORC1	c.106G>T	NM_001311311.1	NP_001298240.1:p.(Asp36Tyr)	NC_000016.9:g.31105945C>A	VUS	1 lab	e4949b19c4
1:19567538 EMC1 T>C	1	19567538	19567538	T	C	EMC1	c.608A>G	NM_015047.2	NP_055862.1:p.(Asn203Ser)	NC_000001.10:g.19567538T>C	(Likely) benign	1 lab	e49dfa87c6
X:67426463 OPHN1 G>C	X	67426463	67426463	G	C	OPHN1	c.885C>G	NM_002547.2	NP_002538.1:p.(Thr295=)	NC_000023.10:g.67426463G>C	(Likely) benign	1 lab	e49ffa77fc
9:139905695 ABCA2 G>A	9	139905695	139905695	G	A	ABCA2	c.5866C>T	NM_001606.5	NP_001597.2:p.(His1956Tyr)	NC_000009.11:g.139905695G>A	VUS	1 lab	e4a1358919
16:88783601 PIEZO1 C>T	16	88783601	88783601	C	T	PIEZO1	c.6490G>A	NM_001142864.4	NP_001136336.2:p.(Gly2164Arg)	NC_000016.9:g.88783601C>T	VUS	1 lab	e4a1b8c987
15:67477078 SMAD3 G>A	15	67477078	67477078	G	A	SMAD3	c.885G>A	NM_005902.3	NP_005893.1:p.(Arg295=)	NC_000015.9:g.67477078G>A	(Likely) benign	1 lab	e4a2b135c5
17:29560232 NF1 G>T	17	29560232	29560232	G	T	NF1	c.3708+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29560232G>T	(Likely) pathogenic	1 lab	e4a3f21636
20:36848138 KIAA1755 C>T	20	36848138	36848138	C	T	KIAA1755	c.2450G>A	NM_001029864.1	NP_001025035.1:p.(Ser817Asn)	NC_000020.10:g.36848138C>T	(Likely) benign	1 lab	e4a40eb5a5
1:150528811 ADAMTSL4 T>A	1	150528811	150528811	T	A	ADAMTSL4	c.1614T>A	NM_001288608.1	NP_001275537.1:p.(Ile538=)	NC_000001.10:g.150528811T>A	(Likely) benign	1 lab	e4a5f0eb6c
19:55871266 GARIN5B G>C	19	55871266	55871266	G	C	GARIN5B	c.970C>G	NM_001145402.2	NP_001138874.1:p.(Pro324Ala)	NC_000019.9:g.55871266G>C	(Likely) benign	1 lab	e4a6d69103
15:85188900 WDR73 C>G	15	85188900	85188900	C	G	WDR73	c.685G>C	NM_032856.3	NP_116245.2:p.(Glu229Gln)	NC_000015.9:g.85188900C>G	(Likely) benign	1 lab	e4a6fb2312
11:6662559 DCHS1 C>T	11	6662559	6662559	C	T	DCHS1				NC_000011.9:g.6662559C>T	VUS	1 lab	e4a7107710
17:79478357 ACTG1 G>GC	17	79478357	79478358	G	GC	ACTG1	c.658dup	NM_001199954.2	NP_001186883.1:p.(Ala220GlyfsTer34)	NC_000017.10:g.79478358dup	(Likely) pathogenic	1 lab	e4a71a9948
X:73960135 NEXMIF G>A	X	73960135	73960135	G	A	NEXMIF	c.4257C>T	NM_001008537.2	NP_001008537.1:p.(Asn1419=)	NC_000023.10:g.73960135G>A	(Likely) benign	1 lab	e4a99928c9
1:8424796 RERE G>A	1	8424796	8424796	G	A	RERE	c.1540+10C>T	NM_012102.3	NP_036234.3:p.?	NC_000001.10:g.8424796G>A	(Likely) benign	1 lab	e4a9bc5777
9:79936458 VPS13A G>A	9	79936458	79936458	G	A	VPS13A	c.5626G>A	NM_033305.2	NP_150648.2:p.(Ala1876Thr)	NC_000009.11:g.79936458G>A	VUS	1 lab	e4a9c4b877
6:74345107 SLC17A5 GATTTCTTAATGATGA>G	6	74345107	74345123	GATTTCTTAATGATGA	G	SLC17A5	c.802_816del	NM_012434.5	NP_036566.1:p.(Ser268_Asn272del)	NC_000006.11:g.74345109_74345123del	(Likely) pathogenic	1 lab	e4aac0085a
16:2134227 TSC2 A>G	16	2134227	2134227	A	G	TSC2	c.4006-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2134227A>G	(Likely) pathogenic	1 lab	e4abc38b49
2:29296732 PCARE A>G	2	29296732	29296732	A	G	PCARE	c.396T>C	NM_001029883.2	NP_001025054.1:p.(Asp132=)	NC_000002.11:g.29296732A>G	(Likely) benign	1 lab	e4ad02fab4
2:169999206 LRP2 C>A	2	169999206	169999206	C	A	LRP2	c.13086G>T	NM_004525.3	NP_004516.2:p.(Gly4362=)	NC_000002.11:g.169999206C>A	(Likely) benign	1 lab	e4b0030a38
17:41219634 BRCA1 TAAC>T	17	41219634	41219641	TAAC	T	BRCA1	c.5062_5064del	NM_007294.4	NP_009225.1:p.(Val1688del)	NC_000017.10:g.41219639_41219641del	(Likely) pathogenic	1 lab	e4b0d463bf
11:6638382 TPP1 C>T	11	6638382	6638382	C	T	TPP1	c.511G>A	NM_000391.3	NP_000382.3:p.(Gly171Arg)	NC_000011.9:g.6638382C>T	VUS	1 lab	e4b12e05e0
17:2298583 MNT AGTGGTG>A	17	2298583	2298593	AGTGGTG	A	MNT	c.233_238del	NM_020310.3	NP_064706.1:p.(Pro78_Pro79del)	NC_000017.10:g.2298588_2298593del	VUS	1 lab	e4b1f90121
4:151412192 LRBA T>C	4	151412192	151412192	T	C	LRBA	c.6364-5A>G	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151412192T>C	(Likely) benign	1 lab	e4b1fc7566
12:15803861 EPS8 A>G	12	15803861	15803861	A	G	EPS8	c.1330T>C	NM_004447.5	NP_004438.3:p.(Phe444Leu)	NC_000012.11:g.15803861A>G	(Likely) benign	1 lab	e4b20d7be6
X:99924278 SRPX2 A>T	X	99924278	99924278	A	T	SRPX2	c.1129A>T	NM_014467.2	NP_055282.1:p.(Thr377Ser)	NC_000023.10:g.99924278A>T	(Likely) benign	1 lab	e4b2fac4fb
2:171687554 GAD1 T>C	2	171687554	171687554	T	C	GAD1	c.399T>C	NM_000817.2	NP_000808.2:p.(Asp133=)	NC_000002.11:g.171687554T>C	(Likely) benign	1 lab	e4b404a020
22:17590515 IL17RA G>A	22	17590515	17590515	G	A	IL17RA	c.2406G>A	NM_014339.6	NP_055154.3:p.(Pro802=)	NC_000022.10:g.17590515G>A	(Likely) benign	1 lab	e4b4b6567f
9:131864183 CRAT C>T	9	131864183	131864183	C	T	CRAT	c.721G>A	NM_001257363.2	NP_001244292.1:p.(Ala241Thr)	NC_000009.11:g.131864183C>T	(Likely) benign	1 lab	e4b700b941
6:108985088 FOXO3 C>T	6	108985088	108985088	C	T	FOXO3	c.1052C>T	NM_001455.4	NP_001446.1:p.(Ser351Leu)	NC_000006.11:g.108985088C>T	VUS	1 lab	e4b76c3491
9:135796775 TSC1 T>A	9	135796775	135796775	T	A	TSC1	c.712A>T	NM_000368.4	NP_000359.1:p.(Lys238Ter)	NC_000009.11:g.135796775T>A	(Likely) pathogenic	1 lab	e4b7791f3b
12:122064837 ORAI1 G>T	12	122064837	122064837	G	T	ORAI1	c.184G>T	NM_032790.3	NP_116179.2:p.(Glu62Ter)	NC_000012.11:g.122064837G>T	VUS	1 lab	e4b7bd79b9
14:105407848 AHNAK2 A>C	14	105407848	105407848	A	C	AHNAK2	c.13940T>G	NM_138420.3	NP_612429.2:p.(Met4647Arg)	NC_000014.8:g.105407848A>C	(Likely) benign	1 lab	e4b7cf2f00
X:17394426 NHS C>G	X	17394426	17394426	C	G	NHS	c.546C>G	NM_001291867.1	NP_001278796.1:p.(Asp182Glu)	NC_000023.10:g.17394426C>G	VUS	1 lab	e4b821a4f3
7:103276736 RELN T>C	7	103276736	103276736	T	C	RELN	c.2249A>G	NM_005045.3	NP_005036.2:p.(Asn750Ser)	NC_000007.13:g.103276736T>C	VUS	1 lab	e4b8bf8c2b
14:76967052 ESRRB G>A	14	76967052	76967052	G	A	ESRRB	c.1515G>A	NM_004452.3	NP_004443.3:p.(Trp505Ter)	NC_000014.8:g.76967052G>A	VUS	1 lab	e4b8cebac8
X:107417734 COL4A6 C>T	X	107417734	107417734	C	T	COL4A6	c.3125G>A	NM_001287758.1	NP_001274687.1:p.(Arg1042Gln)	NC_000023.10:g.107417734C>T	(Likely) benign	1 lab	e4ba814186
17:79504052 FSCN2 C>A	17	79504052	79504052	C	A	FSCN2	c.1497C>A	NM_001077182.2	NP_001070650.1:p.(Gly499=)	NC_000017.10:g.79504052C>A	(Likely) benign	1 lab	e4bb54d172
10:108521378 SORCS1 G>C	10	108521378	108521378	G	C	SORCS1	c.927C>G	NM_001206572.1	NP_001193501.1:p.(Ile309Met)	NC_000010.10:g.108521378G>C	VUS	1 lab	e4bd285b29
5:89943495 ADGRV1 G>A	5	89943495	89943495	G	A	ADGRV1	c.3203G>A	NM_032119.4	NP_115495.3:p.(Arg1068Lys)	NC_000005.9:g.89943495G>A	VUS	1 lab	e4bd38c437
11:64508936 RASGRP2 G>T	11	64508936	64508936	G	T	RASGRP2	c.214C>A	NM_153819.1	NP_722541.1:p.(Gln72Lys)	NC_000011.9:g.64508936G>T	(Likely) benign	1 lab	e4be07de72
6:33281504 TAPBP C>A	6	33281504	33281504	C	A	TAPBP	c.175G>T	NM_003190.4	NP_003181.3:p.(Asp59Tyr)	NC_000006.11:g.33281504C>A	(Likely) benign	1 lab	e4be339428
2:233674471 GIGYF2 C>T	2	233674471	233674471	C	T	GIGYF2	c.1848C>T	NM_015575.3	NP_056390.2:p.(Leu616=)	NC_000002.11:g.233674471C>T	(Likely) benign	1 lab	e4be385e77
18:7012111 LAMA1 G>A	18	7012111	7012111	G	A	LAMA1	c.3390C>T	NM_005559.3	NP_005550.2:p.(Asn1130=)	NC_000018.9:g.7012111G>A	(Likely) benign	1 lab	e4be614e1d
15:66995735 SMAD6 C>T	15	66995735	66995735	C	T	SMAD6	c.139C>T	NM_005585.4	NP_005576.3:p.(Pro47Ser)	NC_000015.9:g.66995735C>T	(Likely) benign	1 lab	e4bf579b08
X:65409558 HEPH G>A	X	65409558	65409558	G	A	HEPH				NC_000023.10:g.65409558G>A	(Likely) benign	1 lab	e5b8a36fb6
2:219137418 PNKD G>A	2	219137418	219137418	G	A	PNKD	c.362G>A	NM_001077399.2	NP_001070867.1:p.(Ser121Asn)	NC_000002.11:g.219137418G>A	VUS	1 lab	e4c1182537
8:134024279 TG G>A	8	134024279	134024279	G	A	TG	c.6396G>A	NM_003235.4	NP_003226.4:p.(Ser2132=)	NC_000008.10:g.134024279G>A	VUS	1 lab	e4d9f3fabb
17:29527462 NF1 G>A	17	29527462	29527462	G	A	NF1	c.911G>A	NM_000267.3	NP_000258.1:p.(Arg304Gln)	NC_000017.10:g.29527462G>A	(Likely) benign	1 lab	e4c325a611
7:47933601 PKD1L1 C>T	7	47933601	47933601	C	T	PKD1L1	c.2327G>A	NM_138295.4	NP_612152.1:p.(Arg776Gln)	NC_000007.13:g.47933601C>T	(Likely) benign	1 lab	e4c33462db
8:42317494 SLC20A2 T>C	8	42317494	42317494	T	C	SLC20A2	c.533A>G	NM_001257180.2	NP_001244109.1:p.(Asn178Ser)	NC_000008.10:g.42317494T>C	VUS	1 lab	e4c4c558ab
15:43892822 STRC C>A	15	43892822	43892822	C	A	STRC	c.4903G>T	NM_153700.2	NP_714544.1:p.(Val1635Phe)	NC_000015.9:g.43892822C>A	VUS	1 lab	e4c57246f8
16:1612052 IFT140 G>A	16	1612052	1612052	G	A	IFT140	c.2133C>T	NM_014714.3	NP_055529.2:p.(Phe711=)	NC_000016.9:g.1612052G>A	(Likely) benign	1 lab	e4c5e35483
X:37061507 FTHL18P C>T	X	37061507	37061507	C	T	FTHL18P	c.255G>A	NM_001271682.1	NP_001258611.1:p.(Ala85=)	NC_000023.10:g.37061507C>T	(Likely) benign	1 lab	e4c80da36a
1:94509019 ABCA4 A>C	1	94509019	94509019	A	C	ABCA4	c.3063T>G	NM_000350.2	NP_000341.2:p.(Ala1021=)	NC_000001.10:g.94509019A>C	(Likely) benign	1 lab	e4c9a42149
11:31531371 ELP4 A>G	11	31531371	31531371	A	G	ELP4	c.40A>G	NM_001288726.1	NP_001275655.1:p.(Thr14Ala)	NC_000011.9:g.31531371A>G	(Likely) benign	1 lab	e4c9d65004
19:40902500 PRX G>A	19	40902500	40902500	G	A	PRX	c.1759C>T	NM_181882.2	NP_870998.2:p.(Leu587Phe)	NC_000019.9:g.40902500G>A	VUS	1 lab	e4cb7b416b
17:80046898 FASN G>A	17	80046898	80046898	G	A	FASN	c.2251C>T	NM_004104.5	NP_004095.4:p.(His751Tyr)	NC_000017.10:g.80046898G>A	VUS	1 lab	e4cbc2f8cb
18:19438568 MIB1 G>A	18	19438568	19438568	G	A	MIB1	c.2841G>A	NM_020774.3	NP_065825.1:p.(Val947=)	NC_000018.9:g.19438568G>A	(Likely) benign	1 lab	e4cbc79158
20:3870027 PANK2 C>G	20	3870027	3870027	C	G	PANK2	c.280C>G	NM_153638.2	NP_705902.2:p.(Arg94Gly)	NC_000020.10:g.3870027C>G	(Likely) benign	1 lab	e4cc166023
21:47805838 PCNT G>A	21	47805838	47805838	G	A	PCNT	c.3404G>A	NM_006031.5	NP_006022.3:p.(Arg1135Gln)	NC_000021.8:g.47805838G>A	(Likely) benign	1 lab	e4ce2b5c0c
X:66765682 AR AT>A	X	66765682	66765685	AT	A	AR	c.697del	NM_000044.6	NP_000035.2:p.(Ser233LeufsTer25)	NC_000023.10:g.66765685del	(Likely) pathogenic	1 lab	e4cf200f3f
3:50379343 ZMYND10 C>T	3	50379343	50379343	C	T	ZMYND10	c.1019G>A	NM_015896.3	NP_056980.2:p.(Arg340Gln)	NC_000003.11:g.50379343C>T	(Likely) benign	1 lab	e4cf94c9cc
20:35533857 SAMHD1 G>A	20	35533857	35533857	G	A	SAMHD1	c.1320C>T	NM_001363729.1	NP_001350658.1:p.(Asp440=)	NC_000020.10:g.35533857G>A	(Likely) benign	1 lab	e4d118440f
9:131394889 SPTAN1 AG>A	9	131394889	131394891	AG	A	SPTAN1	c.7054del	NM_001130438.3	NP_001123910.1:p.(Glu2352SerfsTer49)	NC_000009.11:g.131394891del	(Likely) pathogenic	1 lab	e4d34e59e2
X:31893446 DMD T>G	X	31893446	31893446	T	G	DMD	c.6588A>C	NM_004010.3	NP_004001.1:p.(Gln2196His)	NC_000023.10:g.31893446T>G	(Likely) benign	1 lab	e4d37fe1d2
14:65262076 SPTB G>A	14	65262076	65262076	G	A	SPTB	c.1623C>T	NM_001024858.3	NP_001020029.1:p.(Ile541=)	NC_000014.8:g.65262076G>A	(Likely) benign	1 lab	e4d3bed5bc
17:26732203 MISSING A>T	17	26732203	26732203	A	T	MISSING				NC_000017.10:g.26732203A>T	VUS	1 lab	e4d4219d29
6:33634963 ITPR3 C>T	6	33634963	33634963	C	T	ITPR3	c.1609C>T	NM_002224.3	NP_002215.2:p.(Arg537Trp)	NC_000006.11:g.33634963C>T	VUS	1 lab	e4d4b85dc6
1:120300018 HMGCS2 C>T	1	120300018	120300018	C	T	HMGCS2	c.894G>A	NM_005518.3	NP_005509.1:p.(Met298Ile)	NC_000001.10:g.120300018C>T	(Likely) benign	1 lab	e4d5c87e37
16:30722379 SRCAP G>A	16	30722379	30722379	G	A	SRCAP	c.1288G>A	NM_006662.2	NP_006653.2:p.(Ala430Thr)	NC_000016.9:g.30722379G>A	VUS	1 lab	e4d9510539
4:52860758 LRRC66 C>T	4	52860758	52860758	C	T	LRRC66	c.2430G>A	NM_001024611.2	NP_001019782.1:p.(Gly810=)	NC_000004.11:g.52860758C>T	(Likely) benign	1 lab	e4d96802ed
5:140027138 NDUFA2 C>G	5	140027138	140027138	C	G	NDUFA2	c.31G>C	NM_001185012.1	NP_001171941.1:p.(Gly11Arg)	NC_000005.9:g.140027138C>G	(Likely) benign	1 lab	e4dacb70cd
17:29559852 NF1 C>G	17	29559852	29559852	C	G	NF1	c.3449C>G	NM_000267.3	NP_000258.1:p.(Ser1150Ter)	NC_000017.10:g.29559852C>G	(Likely) pathogenic	1 lab	e4db3146ff
1:103540313 COL11A1 A>G	1	103540313	103540313	A	G	COL11A1	c.512T>C	NM_080629.2	NP_542196.2:p.(Val171Ala)	NC_000001.10:g.103540313A>G	VUS	1 lab	e4dcb0c4dc
X:34148566 FAM47A T>A	X	34148566	34148566	T	A	FAM47A	c.1830A>T	NM_203408.3	NP_981953.2:p.(Glu610Asp)	NC_000023.10:g.34148566T>A	(Likely) benign	1 lab	e4de1bc6e7
5:89939713 ADGRV1 AATG>A	5	89939713	89939721	AATG	A	ADGRV1	c.2653_2655del	NM_032119.4	NP_115495.3:p.(Asp885del)	NC_000005.9:g.89939719_89939721del	VUS	1 lab	e4dfb3b93c
2:73613122 ALMS1 C>A	2	73613122	73613122	C	A	ALMS1	c.129C>A	NM_015120.4	NP_055935.4:p.(Val43=)	NC_000002.11:g.73613122C>A	(Likely) benign	1 lab	e4dff90520
11:6646678 DCHS1 T>C	11	6646678	6646678	T	C	DCHS1				NC_000011.9:g.6646678T>C	(Likely) benign	1 lab	e4e17c631e
2:29295160 PCARE C>A	2	29295160	29295160	C	A	PCARE	c.1968G>T	NM_001029883.2	NP_001025054.1:p.(Arg656Ser)	NC_000002.11:g.29295160C>A	VUS	1 lab	e4e1ebd8fc
2:234676930 UGT1A6 C>T	2	234676930	234676930	C	T	UGT1A6	c.1146C>T	NM_001072.3	NP_001063.2:p.(Cys382=)	NC_000002.11:g.234676930C>T	(Likely) benign	1 lab	e4e32e2be3
X:76939320 ATRX C>T	X	76939320	76939320	C	T	ATRX	c.1428G>A	NM_000489.5	NP_000480.3:p.(Gln476=)	NC_000023.10:g.76939320C>T	(Likely) benign	1 lab	e4e3a8f40e
6:56397273 DST C>T	6	56397273	56397273	C	T	DST	c.10620G>A	NM_001144769.2	NP_001138241.1:p.(Thr3540=)	NC_000006.11:g.56397273C>T	(Likely) benign	1 lab	e4e4d0a528
8:144999771 PLEC C>T	8	144999771	144999771	C	T	PLEC	c.4737G>A	NM_201380.3	NP_958782.1:p.(Ala1579=)	NC_000008.10:g.144999771C>T	(Likely) benign	1 lab	e4e5874ff5
X:44945202 KDM6A G>A	X	44945202	44945202	G	A	KDM6A	c.3682G>A	NM_001291415.1	NP_001278344.1:p.(Val1228Ile)	NC_000023.10:g.44945202G>A	VUS	1 lab	e4e6214c34
19:40424325 FCGBP G>A	19	40424325	40424325	G	A	FCGBP	c.1878C>T	NM_003890.2	NP_003881.2:p.(Asp626=)	NC_000019.9:g.40424325G>A	(Likely) benign	1 lab	e4e705e2fe
4:122853750 TRPC3 G>A	4	122853750	122853750	G	A	TRPC3				NC_000004.11:g.122853750G>A	(Likely) benign	1 lab	f061215968
14:68249919 ZFYVE26 G>A	14	68249919	68249919	G	A	ZFYVE26	c.3950C>T	NM_015346.3	NP_056161.2:p.(Thr1317Met)	NC_000014.8:g.68249919G>A	(Likely) benign	1 lab	e4e71377f2
9:71867731 TJP2 A>G	9	71867731	71867731	A	G	TJP2	c.3322A>G	NM_004817.4	NP_004808.2:p.(Ile1108Val)	NC_000009.11:g.71867731A>G	(Likely) benign	1 lab	e4e77710c2
2:73677466 ALMS1 C>A	2	73677466	73677466	C	A	ALMS1	c.3815C>A	NM_015120.4	NP_055935.4:p.(Pro1272Gln)	NC_000002.11:g.73677466C>A	(Likely) benign	1 lab	e4e7d1f590
X:100749224 ARMCX4 G>T	X	100749224	100749224	G	T	ARMCX4	c.5648G>T	NM_001256155.2	NP_001243084.2:p.(Gly1883Val)	NC_000023.10:g.100749224G>T	VUS	1 lab	e4e96f7bcc
6:144806571 UTRN T>C	6	144806571	144806571	T	C	UTRN	c.3738T>C	NM_007124.2	NP_009055.2:p.(Thr1246=)	NC_000006.11:g.144806571T>C	(Likely) benign	1 lab	e4ea6f4961
17:72916185 USH1G A>T	17	72916185	72916185	A	T	USH1G	c.746T>A	NM_173477.4	NP_775748.2:p.(Leu249Gln)	NC_000017.10:g.72916185A>T	VUS	1 lab	e4eaa460b1
X:154528454 CLIC2 C>A	X	154528454	154528454	C	A	CLIC2	c.62G>T	NM_001289.5	NP_001280.3:p.(Gly21Val)	NC_000023.10:g.154528454C>A	VUS	1 lab	e4eae6124e
1:64605883 ROR1 C>T	1	64605883	64605883	C	T	ROR1	c.702C>T	NM_005012.3	NP_005003.2:p.(Tyr234=)	NC_000001.10:g.64605883C>T	(Likely) benign	1 lab	e4ed712b14
2:234669074 UGT1A1 C>T	2	234669074	234669074	C	T	UGT1A1	c.141C>T	NM_000463.2	NP_000454.1:p.(Ile47=)	NC_000002.11:g.234669074C>T	(Likely) benign	1 lab	e4efb5d032
14:90429694 TDP1 G>C	14	90429694	90429694	G	C	TDP1	c.236G>C	NM_018319.3	NP_060789.2:p.(Ser79Thr)	NC_000014.8:g.90429694G>C	(Likely) benign	1 lab	e4efe6bc28
9:135781264 TSC1 C>T	9	135781264	135781264	C	T	TSC1	c.1701G>A	NM_000368.4	NP_000359.1:p.(Ala567=)	NC_000009.11:g.135781264C>T	(Likely) benign	1 lab	e4f0b4c82a
13:32971015 BRCA2 T>G	13	32971015	32971015	T	G	BRCA2	c.9502-20T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971015T>G	VUS	1 lab	e4f2e83a56
11:722549 EPS8L2 G>T	11	722549	722549	G	T	EPS8L2	c.1208G>T	NM_022772.3	NP_073609.2:p.(Arg403Leu)	NC_000011.9:g.722549G>T	VUS	1 lab	e4f3508010
X:48891027 TFE3 G>A	X	48891027	48891027	G	A	TFE3	c.1089C>T	NM_006521.5	NP_006512.2:p.(Asn363=)	NC_000023.10:g.48891027G>A	(Likely) benign	1 lab	e4f4aa092b
1:186120461 HMCN1 C>A	1	186120461	186120461	C	A	HMCN1	c.14738C>A	NM_031935.2	NP_114141.2:p.(Thr4913Asn)	NC_000001.10:g.186120461C>A	VUS	1 lab	e4f59dd7ba
13:60348894 DIAPH3 C>T	13	60348894	60348894	C	T	DIAPH3	c.3227G>A	NM_001042517.1	NP_001035982.1:p.(Arg1076His)	NC_000013.10:g.60348894C>T	(Likely) benign	1 lab	e4f851cf27
4:185593346 PRIMPOL T>G	4	185593346	185593346	T	G	PRIMPOL	c.576T>G	NM_001345891.1	NP_001332820.1:p.(Ile192Met)	NC_000004.11:g.185593346T>G	VUS	1 lab	e4f880e8de
16:67208973 NOL3 C>T	16	67208973	67208973	C	T	NOL3	c.633C>T	NM_001185057.2	NP_001171986.1:p.(Asp211=)	NC_000016.9:g.67208973C>T	(Likely) benign	1 lab	e4f9074de3
15:73007686 BBS4 C>T	15	73007686	73007686	C	T	BBS4	c.275C>T	NM_033028.4	NP_149017.2:p.(Thr92Ile)	NC_000015.9:g.73007686C>T	(Likely) benign	1 lab	e4fbc6bad3
12:31244784 DDX11 C>A	12	31244784	31244784	C	A	DDX11	c.1221C>A	NM_030653.3	NP_085911.2:p.(Ser407Arg)	NC_000012.11:g.31244784C>A	VUS	1 lab	e4fce4f0e7
X:8591703 ANOS1 C>T	X	8591703	8591703	C	T	ANOS1	c.264G>A	NM_000216.3	NP_000207.2:p.(Glu88=)	NC_000023.10:g.8591703C>T	(Likely) benign	1 lab	e4fd425992
9:79853026 VPS13A A>T	9	79853026	79853026	A	T	VPS13A	c.1704A>T	NM_033305.2	NP_150648.2:p.(Thr568=)	NC_000009.11:g.79853026A>T	(Likely) benign	1 lab	e4fda397af
5:68716245 MARVELD2 A>G	5	68716245	68716245	A	G	MARVELD2	c.1033A>G	NM_001038603.2	NP_001033692.2:p.(Met345Val)	NC_000005.9:g.68716245A>G	VUS	1 lab	e4ffbc834a
17:29559727 NF1 ATTAT>A	17	29559727	29559735	ATTAT	A	NF1	c.3329_3332del	NM_001042492.3	NP_001035957.1:p.(Phe1110Ter)	NC_000017.10:g.29559732_29559735del	(Likely) pathogenic	1 lab	e50096c70d
11:62289943 AHNAK C>T	11	62289943	62289943	C	T	AHNAK	c.11946G>A	NM_001620.2	NP_001611.1:p.(Ala3982=)	NC_000011.9:g.62289943C>T	(Likely) benign	1 lab	e5041db92a
16:2136790 TSC2 ACAAGAAGCGC>A	16	2136790	2136802	ACAAGAAGCGC	A	TSC2	c.4910_4919del	NM_000548.5	NP_000539.2:p.(Lys1637ThrfsTer32)	NC_000016.9:g.2136793_2136802del	(Likely) pathogenic	1 lab	e5042b3d4b
9:134003803 NUP214 C>T	9	134003803	134003803	C	T	NUP214	c.326C>T	NM_005085.3	NP_005076.3:p.(Ala109Val)	NC_000009.11:g.134003803C>T	(Likely) benign	1 lab	e5057d35b7
9:131866548 CRAT T>C	9	131866548	131866548	T	C	CRAT	c.266A>G	NM_004003.3	NP_003994.2:p.(Tyr89Cys)	NC_000009.11:g.131866548T>C	VUS	1 lab	e50a11c2f5
5:139931628 SRA1 A>AGT	5	139931628	139931629	A	AGT	SRA1	c.328_329insAC	NM_001035235.3	NP_001030312.2:p.(Val110AspfsTer2)	NC_000005.9:g.139931628_139931629insGT	(Likely) benign	1 lab	e50a86e3e8
15:28467230 HERC2 T>C	15	28467230	28467230	T	C	HERC2	c.5596A>G	NM_004667.5	NP_004658.3:p.(Met1866Val)	NC_000015.9:g.28467230T>C	(Likely) benign	1 lab	e50b619664
2:196852859 DNAH7 T>A	2	196852859	196852859	T	A	DNAH7	c.1448A>T	NM_018897.3	NP_061720.2:p.(Glu483Val)	NC_000002.11:g.196852859T>A	VUS	1 lab	e50bcf4336
X:2867372 ARSL A>T	X	2867372	2867372	A	T	ARSL	c.902T>A	NM_001282628.1	NP_001269557.1:p.(Leu301Gln)	NC_000023.10:g.2867372A>T	(Likely) benign	1 lab	e50ce7ae0c
10:28273944 ODAD2 T>A	10	28273944	28273944	T	A	ODAD2	c.575+4A>T	NM_001290020.1	NP_001276949.1:p.?	NC_000010.10:g.28273944T>A	VUS	1 lab	e50d0ae5c9
4:42416728 ATP8A1 C>T	4	42416728	42416728	C	T	ATP8A1	c.3313G>A	NM_006095.2	NP_006086.1:p.(Glu1105Lys)	NC_000004.11:g.42416728C>T	VUS	1 lab	e50f707285
X:53566706 HUWE1 G>A	X	53566706	53566706	G	A	HUWE1	c.11544C>T	NM_031407.6	NP_113584.3:p.(Ser3848=)	NC_000023.10:g.53566706G>A	(Likely) benign	1 lab	e5117bb8e4
X:32466703 DMD T>G	X	32466703	32466703	T	G	DMD	c.3287A>C	NM_004010.3	NP_004001.1:p.(Glu1096Ala)	NC_000023.10:g.32466703T>G	(Likely) benign	1 lab	e513290ed5
X:54491903 FGD1 C>T	X	54491903	54491903	C	T	FGD1	c.1617G>A	NM_004463.2	NP_004454.2:p.(Pro539=)	NC_000023.10:g.54491903C>T	(Likely) benign	1 lab	e513af88a8
8:7835437 USP17L3 C>T	8	7835437	7835437	C	T	USP17L3	c.71G>A	NM_001256871.1	NP_001243800.1:p.(Arg24Gln)	NC_000008.10:g.7835437C>T	(Likely) benign	1 lab	e51479e599
9:2645015 VLDLR C>T	9	2645015	2645015	C	T	VLDLR	c.1245C>T	NM_003383.4	NP_003374.3:p.(Gly415=)	NC_000009.11:g.2645015C>T	(Likely) benign	1 lab	e515b38955
19:50794207 MYH14 C>T	19	50794207	50794207	C	T	MYH14	c.5029C>T	NM_001145809.1	NP_001139281.1:p.(Arg1677Cys)	NC_000019.9:g.50794207C>T	VUS	1 lab	e5169ffe37
18:47777131 CFAP53 T>C	18	47777131	47777131	T	C	CFAP53	c.993A>G	NM_145020.4	NP_659457.2:p.(Lys331=)	NC_000018.9:g.47777131T>C	(Likely) benign	1 lab	e516ad8423
6:137519546 IFNGR1 G>A	6	137519546	137519546	G	A	IFNGR1	c.969C>T	NM_001363527.1	NP_001350456.1:p.(Asp323=)	NC_000006.11:g.137519546G>A	(Likely) benign	1 lab	e517c81b4d
1:27102075 ARID1A G>A	1	27102075	27102075	G	A	ARID1A	c.5001G>A	NM_006015.4	NP_006006.3:p.(Pro1667=)	NC_000001.10:g.27102075G>A	(Likely) benign	1 lab	e518c375e3
21:42824603 MX1 G>A	21	42824603	42824603	G	A	MX1	c.1565G>A	NM_001144925.2	NP_001138397.1:p.(Arg522His)	NC_000021.8:g.42824603G>A	(Likely) benign	1 lab	e51c9500a4
16:75665702 KARS1 G>A	16	75665702	75665702	G	A	KARS1	c.1051C>T	NM_001130089.1	NP_001123561.1:p.(Arg351Trp)	NC_000016.9:g.75665702G>A	VUS	1 lab	e51f6a6aee
9:133961040 LAMC3 C>T	9	133961040	133961040	C	T	LAMC3	c.4160C>T	NM_006059.3	NP_006050.3:p.(Ala1387Val)	NC_000009.11:g.133961040C>T	VUS	1 lab	e5233d68f7
16:89713131 CHMP1A A>G	16	89713131	89713131	A	G	CHMP1A	c.382-9T>C	NM_002768.4	NP_002759.2:p.?	NC_000016.9:g.89713131A>G	(Likely) benign	1 lab	e5238b1ba5
14:23863079 MYH6 G>T	14	23863079	23863079	G	T	MYH6	c.2724C>A	NM_002471.3	NP_002462.2:p.(Asp908Glu)	NC_000014.8:g.23863079G>T	VUS	1 lab	e52899800c
X:119500619 ATP1B4 T>G	X	119500619	119500619	T	G	ATP1B4	c.303T>G	NM_001142447.3	NP_001135919.1:p.(Phe101Leu)	NC_000023.10:g.119500619T>G	(Likely) benign	1 lab	e52aceb8ad
9:13121894 MPDZ T>C	9	13121894	13121894	T	C	MPDZ	c.5075A>G	NM_001330637.1	NP_001317566.1:p.(Glu1692Gly)	NC_000009.11:g.13121894T>C	VUS	1 lab	e52c002a33
14:21993076 SALL2 AGAG>A	14	21993076	21993093	AGAG	A	SALL2	c.777_779del	NM_001364564.1	NP_001351493.1:p.(Ser263del)	NC_000014.8:g.21993091_21993093del	VUS	1 lab	e52d153c73
4:88536475 DSPP A>C	4	88536475	88536475	A	C	DSPP	c.2661A>C	NM_014208.3	NP_055023.2:p.(Glu887Asp)	NC_000004.11:g.88536475A>C	(Likely) benign	1 lab	e52d64c89d
6:7584651 DSP T>C	6	7584651	7584651	T	C	DSP	c.7156T>C	NM_004415.2	NP_004406.2:p.(Leu2386=)	NC_000006.11:g.7584651T>C	(Likely) benign	1 lab	e52eeb41fb
7:4827387 AP5Z1 G>A	7	4827387	4827387	G	A	AP5Z1	c.1434G>A	NM_014855.3	NP_055670.1:p.(Ala478=)	NC_000007.13:g.4827387G>A	(Likely) benign	1 lab	e532038f98
2:166626707 GALNT3 A>G	2	166626707	166626707	A	G	GALNT3	c.504T>C	NM_004482.3	NP_004473.2:p.(Thr168=)	NC_000002.11:g.166626707A>G	(Likely) benign	1 lab	e5335e3876
12:10342717 TMEM52B G>C	12	10342717	10342717	G	C	TMEM52B	c.470G>C	NM_153022.3	NP_694567.1:p.(Arg157Pro)	NC_000012.11:g.10342717G>C	VUS	1 lab	e535891a25
22:30035141 NF2 T>G	22	30035141	30035141	T	G	NF2	c.303T>G	NM_000268.3	NP_000259.1:p.(Tyr101Ter)	NC_000022.10:g.30035141T>G	(Likely) pathogenic	1 lab	e5360a02c0
9:140055562 GRIN1 G>A	9	140055562	140055562	G	A	GRIN1	c.1252G>A	NM_007327.3	NP_015566.1:p.(Gly418Arg)	NC_000009.11:g.140055562G>A	VUS	1 lab	e53634c6b5
2:136680412 DARS1 C>T	2	136680412	136680412	C	T	DARS1	c.753G>A	NM_001349.3	NP_001340.2:p.(Gln251=)	NC_000002.11:g.136680412C>T	(Likely) benign	1 lab	e537181bfa
12:52162873 SCN8A C>T	12	52162873	52162873	C	T	SCN8A	c.3126C>T	NM_001330260.1	NP_001317189.1:p.(Ala1042=)	NC_000012.11:g.52162873C>T	(Likely) benign	1 lab	e537445172
18:50734143 DCC C>T	18	50734143	50734143	C	T	DCC	c.1817C>T	NM_005215.3	NP_005206.2:p.(Pro606Leu)	NC_000018.9:g.50734143C>T	VUS	1 lab	e537452487
21:45987821 TSPEAR C>T	21	45987821	45987821	C	T	TSPEAR	c.151G>A	NM_144991.2	NP_659428.2:p.(Val51Ile)	NC_000021.8:g.45987821C>T	(Likely) benign	1 lab	e53a837a18
11:121461870 SORL1 G>A	11	121461870	121461870	G	A	SORL1	c.4369+5G>A	NM_003105.5	NP_003096.1:p.?	NC_000011.9:g.121461870G>A	VUS	1 lab	e53abaf0a9
X:54952902 TRO AT>A	X	54952902	54952903	AT	A	TRO	c.1638del	NM_001039705.3	NP_001034794.1:p.(Asn546LysfsTer23)	NC_000023.10:g.54952903del	VUS	1 lab	e53cb0d1a6
X:53707143 HUWE1 C>CA	X	53707143	53707152	C	CA	HUWE1	c.-162-5dup	NM_031407.6	NP_113584.3:p.?	NC_000023.10:g.53707152dup	(Likely) benign	1 lab	e53cb434b0
16:74753051 FA2H C>T	16	74753051	74753051	C	T	FA2H	c.621G>A	NM_024306.4	NP_077282.3:p.(Thr207=)	NC_000016.9:g.74753051C>T	(Likely) benign	1 lab	e53d1ce1cc
5:90073792 ADGRV1 G>A	5	90073792	90073792	G	A	ADGRV1	c.12598G>A	NM_032119.4	NP_115495.3:p.(Glu4200Lys)	NC_000005.9:g.90073792G>A	VUS	1 lab	e53d45c7f4
2:212251644 ERBB4 G>A	2	212251644	212251644	G	A	ERBB4	c.3415C>T	NM_005235.2	NP_005226.1:p.(Arg1139Trp)	NC_000002.11:g.212251644G>A	VUS	1 lab	e53e265283
X:73963864 NEXMIF C>T	X	73963864	73963864	C	T	NEXMIF	c.528G>A	NM_001008537.2	NP_001008537.1:p.(Thr176=)	NC_000023.10:g.73963864C>T	(Likely) benign	1 lab	e53eefccdf
13:110861670 COL4A1 G>A	13	110861670	110861670	G	A	COL4A1	c.651+69C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110861670G>A	(Likely) benign	1 lab	e53f416a8e
19:4517626 MISSING G>A	19	4517626	4517626	G	A	MISSING				NC_000019.9:g.4517626G>A	VUS	1 lab	e53fad9ffc
14:95577653 DICER1 C>G	14	95577653	95577653	C	G	DICER1	c.2256+1G>C	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95577653C>G	(Likely) pathogenic	1 lab	e53fcc3906
12:96386449 HAL T>C	12	96386449	96386449	T	C	HAL	c.715+9A>G	NM_002108.3	NP_002099.1:p.?	NC_000012.11:g.96386449T>C	(Likely) benign	1 lab	e5425f327f
15:91491410 UNC45A G>A	15	91491410	91491410	G	A	UNC45A	c.1589G>A	NM_001039675.1	NP_001034764.1:p.(Arg530His)	NC_000015.9:g.91491410G>A	VUS	1 lab	e54291a2f6
11:5717837 TRIM22 C>T	11	5717837	5717837	C	T	TRIM22	c.375C>T	NM_001199573.1	NP_001186502.1:p.(His125=)	NC_000011.9:g.5717837C>T	(Likely) benign	1 lab	e54460e602
12:111085658 TCTN1 T>C	12	111085658	111085658	T	C	TCTN1	c.1191T>C	NM_001319681.1	NP_001306610.1:p.(Asn397=)	NC_000012.11:g.111085658T>C	(Likely) benign	1 lab	e547ed963e
1:197102534 ASPM T>C	1	197102534	197102534	T	C	ASPM	c.2365A>G	NM_018136.4	NP_060606.3:p.(Ile789Val)	NC_000001.10:g.197102534T>C	VUS	1 lab	e5499bb399
4:39280177 WDR19 C>T	4	39280177	39280177	C	T	WDR19	c.3936C>T	NM_025132.3	NP_079408.3:p.(Ser1312=)	NC_000004.11:g.39280177C>T	(Likely) benign	1 lab	e54a473919
X:66937403 AR C>T	X	66937403	66937403	C	T	AR	c.2257C>T	NM_000044.4	NP_000035.2:p.(Arg753Ter)	NC_000023.10:g.66937403C>T	(Likely) pathogenic	1 lab	e54aaddb9a
16:89253887 CDH15 C>T	16	89253887	89253887	C	T	CDH15	c.714C>T	NM_004933.2	NP_004924.1:p.(Asp238=)	NC_000016.9:g.89253887C>T	(Likely) benign	1 lab	e54b5e4946
17:72916539 USH1G A>C	17	72916539	72916539	A	C	USH1G	c.392T>G	NM_173477.4	NP_775748.2:p.(Leu131Arg)	NC_000017.10:g.72916539A>C	VUS	1 lab	e54cb91438
8:10470776 RP1L1 GC>G	8	10470776	10470778	GC	G	RP1L1	c.831del	NM_178857.6	NP_849188.4:p.(Arg277SerfsTer33)	NC_000008.10:g.10470778del	(Likely) pathogenic	1 lab	e54da2f9b5
6:32008370 CYP21A2 C>T	6	32008370	32008370	C	T	CYP21A2	c.1028+9C>T	NM_001128590.3	NP_001122062.3:p.?	NC_000006.11:g.32008370C>T	(Likely) benign	1 lab	e54f864ee4
X:50659038 BMP15 C>T	X	50659038	50659038	C	T	BMP15	c.610C>T	NM_005448.2	NP_005439.2:p.(Arg204Ter)	NC_000023.10:g.50659038C>T	(Likely) pathogenic	1 lab	e5503ee713
2:170063669 LRP2 G>A	2	170063669	170063669	G	A	LRP2	c.6561C>T	NM_004525.3	NP_004516.2:p.(Val2187=)	NC_000002.11:g.170063669G>A	(Likely) benign	1 lab	e5504fddd8
11:2416713 CD81 A>G	11	2416713	2416713	A	G	CD81	c.422A>G	NM_004356.3	NP_004347.1:p.(Asn141Ser)	NC_000011.9:g.2416713A>G	(Likely) benign	1 lab	e550ab7f69
5:82836537 VCAN C>T	5	82836537	82836537	C	T	VCAN	c.7715C>T	NM_004385.4	NP_004376.2:p.(Ser2572Leu)	NC_000005.9:g.82836537C>T	VUS	1 lab	e551b26151
15:72104133 NR2E3 C>T	15	72104133	72104133	C	T	NR2E3	c.273C>T	NM_016346.3	NP_057430.1:p.(Pro91=)	NC_000015.9:g.72104133C>T	(Likely) benign	1 lab	e55453a20d
19:50086887 PRRG2 C>T	19	50086887	50086887	C	T	PRRG2	c.105C>T	NM_001316335.1	NP_001303264.1:p.(Leu35=)	NC_000019.9:g.50086887C>T	(Likely) benign	1 lab	e554a27a3a
X:151821347 GABRQ A>G	X	151821347	151821347	A	G	GABRQ	c.1502A>G	NM_018558.3	NP_061028.3:p.(Asn501Ser)	NC_000023.10:g.151821347A>G	VUS	1 lab	e55553af82
1:45444092 EIF2B3 T>A	1	45444092	45444092	T	A	EIF2B3	c.189A>T	NM_020365.4	NP_065098.1:p.(Leu63=)	NC_000001.10:g.45444092T>A	(Likely) benign	1 lab	e556b990e3
5:127670509 FBN2 T>C	5	127670509	127670509	T	C	FBN2	c.4001A>G	NM_001999.3	NP_001990.2:p.(Asn1334Ser)	NC_000005.9:g.127670509T>C	VUS	1 lab	e55996a3e9
X:153592732 FLNA T>C	X	153592732	153592732	T	C	FLNA	c.2031A>G	NM_001110556.2	NP_001104026.1:p.(Ala677=)	NC_000023.10:g.153592732T>C	(Likely) benign	1 lab	e559daed63
1:184723777 EDEM3 T>A	1	184723777	184723777	T	A	EDEM3	c.4A>T	NM_001319960.1	NP_001306889.1:p.(Ser2Cys)	NC_000001.10:g.184723777T>A	VUS	1 lab	e55a73b9b6
4:88731868 IBSP G>A	4	88731868	88731868	G	A	IBSP	c.357G>A	NM_004967.4	NP_004958.2:p.(Thr119=)	NC_000004.11:g.88731868G>A	(Likely) benign	1 lab	e55a8e7050
15:31323254 TRPM1 A>T	15	31323254	31323254	A	T	TRPM1	c.3110T>A	NM_001252020.1	NP_001238949.1:p.(Leu1037Gln)	NC_000015.9:g.31323254A>T	VUS	1 lab	e55caef9da
9:35657920 RMRP C>A	9	35657920	35657920	C	A	RMRP	n.96G>T	NR_003051.3		NC_000009.11:g.35657920C>A	VUS	1 lab	e55d35fa15
3:9495422 SETD5 G>A	3	9495422	9495422	G	A	SETD5	c.2053-1G>A	NM_001292043.1	NP_001278972.1:p.?	NC_000003.11:g.9495422G>A	(Likely) pathogenic	1 lab	e55d3ee756
18:29172860 TTR G>A	18	29172860	29172860	G	A	TTR	c.71G>A	NM_000371.3	NP_000362.1:p.(Gly24Asp)	NC_000018.9:g.29172860G>A	VUS	1 lab	e55e6b2afe
14:95562292 DICER1 TGC>T	14	95562292	95562294	TGC	T	DICER1	c.4963_4964del	NM_177438.3	NP_803187.1:p.(Ala1655ArgfsTer2)	NC_000014.8:g.95562293_95562294del	(Likely) pathogenic	1 lab	e55f775bef
12:109625976 ACACB CTCCTTCCTTCCTTCCTTCCTTCCTTCCT>C	12	109625976	109626039	CTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C	ACACB	c.2144+45_2144+72del	NM_001093.4	NP_001084.3:p.?	NC_000012.11:g.109626012_109626039del	(Likely) benign	1 lab	e5671ade02
4:85731122 WDFY3 T>C	4	85731122	85731122	T	C	WDFY3	c.2263A>G	NM_014991.4	NP_055806.2:p.(Ile755Val)	NC_000004.11:g.85731122T>C	(Likely) benign	1 lab	e569db62f3
3:69998275 MITF A>G	3	69998275	69998275	A	G	MITF	c.836A>G	NM_198159.2	NP_937802.1:p.(Asn279Ser)	NC_000003.11:g.69998275A>G	(Likely) benign	1 lab	e56a305952
3:164709997 SI C>T	3	164709997	164709997	C	T	SI	c.4951G>A	NM_001041.3	NP_001032.2:p.(Val1651Ile)	NC_000003.11:g.164709997C>T	(Likely) benign	1 lab	e56beb7e31
17:29559747 NF1 ATGAC>A	17	29559747	29559753	ATGAC	A	NF1	c.3347_3350del	NM_001042492.3	NP_001035957.1:p.(Asp1116AlafsTer25)	NC_000017.10:g.29559750_29559753del	(Likely) pathogenic	1 lab	e56d31b3ea
5:96222419 ERAP2 A>G	5	96222419	96222419	A	G	ERAP2	c.775A>G	NM_022350.4	NP_071745.1:p.(Met259Val)	NC_000005.9:g.96222419A>G	VUS	1 lab	e56db14e53
X:152722632 HAUS7 T>C	X	152722632	152722632	T	C	HAUS7	c.439A>G	NM_017518.7	NP_059988.3:p.(Ile147Val)	NC_000023.10:g.152722632T>C	(Likely) benign	1 lab	e56ed961d5
9:131398695 DYNC2I2 T>C	9	131398695	131398695	T	C	DYNC2I2	c.568A>G	NM_052844.3	NP_443076.2:p.(Thr190Ala)	NC_000009.11:g.131398695T>C	VUS	1 lab	e56f269960
X:10437791 MID1 C>T	X	10437791	10437791	C	T	MID1	c.1231G>A	NM_000381.3	NP_000372.1:p.(Val411Met)	NC_000023.10:g.10437791C>T	VUS	1 lab	e56ffa7da9
7:16415756 CRPPA T>C	7	16415756	16415756	T	C	CRPPA	c.645A>G	NM_001101426.3	NP_001094896.1:p.(Gln215=)	NC_000007.13:g.16415756T>C	(Likely) benign	1 lab	e57146ec74
20:2381075 TGM6 C>G	20	2381075	2381075	C	G	TGM6	c.974C>G	NM_198994.2	NP_945345.2:p.(Thr325Arg)	NC_000020.10:g.2381075C>G	VUS	1 lab	e572f33482
10:61834628 ANK3 G>A	10	61834628	61834628	G	A	ANK3	c.6011C>T	NM_020987.5	NP_066267.2:p.(Ala2004Val)	NC_000010.10:g.61834628G>A	(Likely) benign	1 lab	e57302108e
12:88474030 CEP290 G>C	12	88474030	88474030	G	C	CEP290	c.5155C>G	NM_025114.3	NP_079390.3:p.(Pro1719Ala)	NC_000012.11:g.88474030G>C	VUS	1 lab	e573e9388b
16:2134716 TSC2 G>C	16	2134716	2134716	G	C	TSC2	c.4493G>C	NM_000548.3	NP_000539.2:p.(Ser1498Thr)	NC_000016.9:g.2134716G>C	VUS	1 lab	e575d40450
9:13168402 MPDZ T>C	9	13168402	13168402	T	C	MPDZ	c.3217A>G	NM_003829.4	NP_003820.2:p.(Met1073Val)	NC_000009.11:g.13168402T>C	VUS	1 lab	e57625245d
16:2138224 TSC2 CCA>C	16	2138224	2138226	CCA	C	TSC2	c.5161-3_5161-2del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138225_2138226del	(Likely) pathogenic	1 lab	e577025bb8
10:75874632 VCL A>ACAT	10	75874632	75874637	A	ACAT	VCL	c.3236_3238dup	NM_014000.2	NP_054706.1:p.(Ile1079dup)	NC_000010.10:g.75874635_75874637dup	VUS	1 lab	e57768eb75
12:80889808 MISSING G>A	12	80889808	80889808	G	A	MISSING				NC_000012.11:g.80889808G>A	VUS	1 lab	e57870dada
4:110932412 EGF C>T	4	110932412	110932412	C	T	EGF	c.2977C>T	NM_001357021.1	NP_001343950.1:p.(Gln993Ter)	NC_000004.11:g.110932412C>T	(Likely) pathogenic	1 lab	e57a85e0e5
X:21444686 CNKSR2 C>T	X	21444686	21444686	C	T	CNKSR2	c.136C>T	NM_014927.4	NP_055742.2:p.(Arg46Cys)	NC_000023.10:g.21444686C>T	VUS	1 lab	e57b998c0b
14:64606756 SYNE2 T>C	14	64606756	64606756	T	C	SYNE2	c.14941T>C	NM_182914.2	NP_878918.2:p.(Leu4981=)	NC_000014.8:g.64606756T>C	(Likely) benign	1 lab	e57bf6c648
3:193364885 OPA1 A>G	3	193364885	193364885	A	G	OPA1	c.1786A>G	NM_130837.2	NP_570850.2:p.(Thr596Ala)	NC_000003.11:g.193364885A>G	VUS	1 lab	e57c89b57e
8:42693282 THAP1 T>C	8	42693282	42693282	T	C	THAP1	c.465A>G	NM_018105.2	NP_060575.1:p.(Gln155=)	NC_000008.10:g.42693282T>C	(Likely) benign	1 lab	e57d2d50df
3:127323772 MCM2 G>A	3	127323772	127323772	G	A	MCM2	c.446G>A	NM_004526.3	NP_004517.2:p.(Arg149His)	NC_000003.11:g.127323772G>A	VUS	1 lab	e57e9e8cf4
15:89864098 POLG G>A	15	89864098	89864098	G	A	POLG	c.2880C>T	NM_002693.2	NP_002684.1:p.(Pro960=)	NC_000015.9:g.89864098G>A	(Likely) benign	1 lab	e57ec53552
1:150531934 ADAMTSL4 T>C	1	150531934	150531934	T	C	ADAMTSL4	c.3004T>C	NM_001288608.1	NP_001275537.1:p.(Trp1002Arg)	NC_000001.10:g.150531934T>C	VUS	1 lab	e57ed8d9f0
17:29665766 NF1 A>G	17	29665766	29665766	A	G	NF1	c.6801A>G	NM_000267.3	NP_000258.1:p.(Gln2267=)	NC_000017.10:g.29665766A>G	(Likely) pathogenic	1 lab	e57f311d98
16:84203737 DNAAF1 G>A	16	84203737	84203737	G	A	DNAAF1	c.1303G>A	NM_178452.5	NP_848547.4:p.(Asp435Asn)	NC_000016.9:g.84203737G>A	(Likely) benign	1 lab	e580ea4c03
11:57427448 CLP1 A>G	11	57427448	57427448	A	G	CLP1	c.500A>G	NM_006831.2	NP_006822.1:p.(Tyr167Cys)	NC_000011.9:g.57427448A>G	(Likely) benign	1 lab	e584007b17
16:50342251 ADCY7 G>A	16	50342251	50342251	G	A	ADCY7	c.1864G>A	NM_001114.4	NP_001105.1:p.(Gly622Ser)	NC_000016.9:g.50342251G>A	VUS	1 lab	e585d6ff73
13:32913079 BRCA2 G>T	13	32913079	32913079	G	T	BRCA2	c.4587G>T	NM_000059.3	NP_000050.2:p.(Gly1529=)	NC_000013.10:g.32913079G>T	VUS	1 lab	e586697a20
X:129203446 ELF4 GC>G	X	129203446	129203447	GC	G	ELF4	c.1015del	NM_001421.4	NP_001412.1:p.(Ala339ProfsTer32)	NC_000023.10:g.129203447del	VUS	1 lab	e58848b7b8
19:9033657 MUC16 G>A	19	9033657	9033657	G	A	MUC16	c.36280C>T	NM_024690.2	NP_078966.2:p.(Pro12094Ser)	NC_000019.9:g.9033657G>A	VUS	1 lab	e588760f62
X:153695759 PLXNA3 C>T	X	153695759	153695759	C	T	PLXNA3	c.3386C>T	NM_017514.4	NP_059984.3:p.(Pro1129Leu)	NC_000023.10:g.153695759C>T	(Likely) benign	1 lab	e588eebb01
5:150900979 FAT2 C>A	5	150900979	150900979	C	A	FAT2	c.11175G>T	NM_001447.2	NP_001438.1:p.(Val3725=)	NC_000005.9:g.150900979C>A	(Likely) benign	1 lab	e58afabd0b
9:841934 DMRT1 C>T	9	841934	841934	C	T	DMRT1	c.96C>T	NM_021951.2	NP_068770.2:p.(Gly32=)	NC_000009.11:g.841934C>T	VUS	1 lab	e58c5e802b
19:45872334 ERCC2 G>A	19	45872334	45872334	G	A	ERCC2	c.177C>T	NM_000400.3	NP_000391.1:p.(Tyr59=)	NC_000019.9:g.45872334G>A	(Likely) benign	1 lab	e58d858021
X:92927449 NAP1L3 A>G	X	92927449	92927449	A	G	NAP1L3	c.855T>C	NM_004538.5	NP_004529.2:p.(Pro285=)	NC_000023.10:g.92927449A>G	(Likely) benign	1 lab	e58e6406c5
20:39990792 EMILIN3 G>A	20	39990792	39990792	G	A	EMILIN3	c.1417C>T	NM_052846.2	NP_443078.1:p.(Arg473Cys)	NC_000020.10:g.39990792G>A	VUS	1 lab	e58f554f9a
20:53171505 DOK5 G>A	20	53171505	53171505	G	A	DOK5	c.100G>A	NM_018431.4	NP_060901.2:p.(Ala34Thr)	NC_000020.10:g.53171505G>A	VUS	1 lab	e592ef8ab6
15:41571027 CHP1 G>A	15	41571027	41571027	G	A	CHP1	c.474G>A	NM_007236.5	NP_009167.1:p.(Arg158=)	NC_000015.9:g.41571027G>A	(Likely) benign	1 lab	e5938d51bd
2:73717567 MISSING G>T	2	73717567	73717567	G	T	MISSING				NC_000002.11:g.73717567G>T	(Likely) benign	1 lab	1dbe6adc0c
7:142723927 OR9A2 G>A	7	142723927	142723927	G	A	OR9A2	c.293C>T	NM_001001658.1	NP_001001658.1:p.(Ser98Leu)	NC_000007.13:g.142723927G>A	(Likely) benign	1 lab	e593a63684
1:26883566 RPS6KA1 C>T	1	26883566	26883566	C	T	RPS6KA1	c.1059C>T	NM_002953.4	NP_002944.2:p.(Thr353=)	NC_000001.10:g.26883566C>T	(Likely) benign	1 lab	e594ee3b82
11:721910 EPS8L2 C>A	11	721910	721910	C	A	EPS8L2	c.903C>A	NM_022772.3	NP_073609.2:p.(Val301=)	NC_000011.9:g.721910C>A	VUS	1 lab	e5963641e3
22:21344779 LZTR1 C>T	22	21344779	21344779	C	T	LZTR1	c.756C>T	NM_006767.3	NP_006758.2:p.(Thr252=)	NC_000022.10:g.21344779C>T	(Likely) benign	1 lab	e596c8e912
9:135204913 SETX T>C	9	135204913	135204913	T	C	SETX	c.2072A>G	NM_015046.5	NP_055861.3:p.(Gln691Arg)	NC_000009.11:g.135204913T>C	(Likely) benign	1 lab	e5980cfb7e
1:878242 SAMD11 G>A	1	878242	878242	G	A	SAMD11	c.1368G>A	NM_152486.3	NP_689699.2:p.(Trp456Ter)	NC_000001.10:g.878242G>A	VUS	1 lab	e599a9998b
1:248059312 OR2W3 C>T	1	248059312	248059312	C	T	OR2W3	c.424C>T	NM_001001957.2	NP_001001957.2:p.(Arg142Trp)	NC_000001.10:g.248059312C>T	(Likely) benign	1 lab	e59afb1ad3
15:85327526 ZNF592 G>C	15	85327526	85327526	G	C	ZNF592	c.1620G>C	NM_014630.2	NP_055445.2:p.(Leu540=)	NC_000015.9:g.85327526G>C	(Likely) benign	1 lab	e59c6312da
7:100365542 ZAN C>A	7	100365542	100365542	C	A	ZAN	c.4949C>A	NM_003386.2	NP_003377.2:p.(Thr1650Lys)	NC_000007.13:g.100365542C>A	(Likely) benign	1 lab	e59d00f494
X:48375668 PORCN C>A	X	48375668	48375668	C	A	PORCN	c.1025C>A	NM_001282167.1	NP_001269096.1:p.(Thr342Asn)	NC_000023.10:g.48375668C>A	VUS	1 lab	e59ec29869
X:53575200 HUWE1 T>C	X	53575200	53575200	T	C	HUWE1	c.10070A>G	NM_031407.6	NP_113584.3:p.(Lys3357Arg)	NC_000023.10:g.53575200T>C	VUS	1 lab	e5a082cc55
16:53672285 RPGRIP1L T>C	16	53672285	53672285	T	C	RPGRIP1L	c.2997A>G	NM_015272.4	NP_056087.2:p.(Ser999=)	NC_000016.9:g.53672285T>C	(Likely) benign	1 lab	e5a0ab2edc
2:179404620 TTN A>G	2	179404620	179404620	A	G	TTN	c.98172T>C	NM_001267550.1	NP_001254479.1:p.(Leu32724=)	NC_000002.11:g.179404620A>G	(Likely) benign	1 lab	e5a0c8b467
9:133333895 ASS1 C>T	9	133333895	133333895	C	T	ASS1	c.282C>T	NM_000050.4	NP_000041.2:p.(Ala94=)	NC_000009.11:g.133333895C>T	(Likely) benign	1 lab	e5a0ed89c7
X:20069023 MAP7D2 A>G	X	20069023	20069023	A	G	MAP7D2	c.637T>C	NM_001168465.2	NP_001161937.1:p.(Ser213Pro)	NC_000023.10:g.20069023A>G	(Likely) benign	1 lab	e5a45bd8de
9:117849499 TNC C>G	9	117849499	117849499	C	G	TNC	c.511G>C	NM_002160.3	NP_002151.2:p.(Gly171Arg)	NC_000009.11:g.117849499C>G	(Likely) benign	1 lab	e5a56b23fc
1:152275740 FLG C>G	1	152275740	152275740	C	G	FLG	c.11622G>C	NM_002016.1	NP_002007.1:p.(Glu3874Asp)	NC_000001.10:g.152275740C>G	VUS	1 lab	e5a727616a
15:96875425 NR2F2 GGCCCGCC>G	15	96875425	96875437	GGCCCGCC	G	NR2F2	c.97_103del	NM_021005.4	NP_066285.1:p.(Pro33AlafsTer77)	NC_000015.9:g.96875431_96875437del	(Likely) pathogenic	1 lab	e5a734d0fb
13:40234951 COG6 T>A	13	40234951	40234951	T	A	COG6	c.302T>A	NM_001145079.1	NP_001138551.1:p.(Leu101His)	NC_000013.10:g.40234951T>A	VUS	1 lab	e5a99af701
X:66937368 AR C>T	X	66937368	66937368	C	T	AR	c.2222C>T	NM_000044.4	NP_000035.2:p.(Ser741Phe)	NC_000023.10:g.66937368C>T	(Likely) pathogenic	1 lab	e5aa3f9344
3:147108826 ZIC4 T>G	3	147108826	147108826	T	G	ZIC4	c.1046A>C	NM_001168378.1	NP_001161850.1:p.(Asp349Ala)	NC_000003.11:g.147108826T>G	(Likely) benign	1 lab	e5abd2a1e4
12:46245887 ARID2 A>G	12	46245887	46245887	A	G	ARID2	c.3981A>G	NM_152641.3	NP_689854.2:p.(Ser1327=)	NC_000012.11:g.46245887A>G	(Likely) benign	1 lab	e5ac9c1f6a
19:39401286 CCER2 C>T	19	39401286	39401286	C	T	CCER2	c.628G>A	NM_001243212.1	NP_001230141.1:p.(Glu210Lys)	NC_000019.9:g.39401286C>T	VUS	1 lab	e5aca814e3
7:116411944 MET A>G	7	116411944	116411944	A	G	MET	c.2983A>G	NM_001127500.1	NP_001120972.1:p.(Thr995Ala)	NC_000007.13:g.116411944A>G	VUS	1 lab	e5ad0d2728
18:7040220 LAMA1 T>C	18	7040220	7040220	T	C	LAMA1	c.1277A>G	NM_005559.3	NP_005550.2:p.(Gln426Arg)	NC_000018.9:g.7040220T>C	VUS	1 lab	e5ade83875
17:1635686 WDR81 T>G	17	1635686	1635686	T	G	WDR81	c.4225T>G	NM_001163809.1	NP_001157281.1:p.(Cys1409Gly)	NC_000017.10:g.1635686T>G	VUS	1 lab	e5ae18259a
19:23836120 ZNF675 C>A	19	23836120	23836120	C	A	ZNF675	c.1615G>T	NM_138330.2	NP_612203.2:p.(Glu539Ter)	NC_000019.9:g.23836120C>A	VUS	1 lab	e5ae91cfb5
7:151945167 KMT2C G>A	7	151945167	151945167	G	A	KMT2C	c.2352C>T	NM_170606.2	NP_733751.2:p.(Ser784=)	NC_000007.13:g.151945167G>A	(Likely) benign	1 lab	e5aea4c03e
1:235878609 LYST G>C	1	235878609	235878609	G	C	LYST	c.9676C>G	NM_001301365.1	NP_001288294.1:p.(Pro3226Ala)	NC_000001.10:g.235878609G>C	VUS	1 lab	e5af94d8ff
4:79308580 FRAS1 G>A	4	79308580	79308580	G	A	FRAS1	c.3700G>A	NM_025074.7	NP_079350.5:p.(Ala1234Thr)	NC_000004.11:g.79308580G>A	(Likely) benign	1 lab	e5b0d7b3fc
6:73017063 RIMS1 A>G	6	73017063	73017063	A	G	RIMS1	c.3953A>G	NM_014989.5	NP_055804.2:p.(Gln1318Arg)	NC_000006.11:g.73017063A>G	VUS	1 lab	e5b1897ba0
1:46662506 POMGNT1 C>T	1	46662506	46662506	C	T	POMGNT1	c.251G>A	NM_001243766.1	NP_001230695.1:p.(Arg84His)	NC_000001.10:g.46662506C>T	VUS	1 lab	e5b230c08e
X:76875960 ATRX T>C	X	76875960	76875960	T	C	ATRX	c.5175A>G	NM_000489.5	NP_000480.3:p.(Lys1725=)	NC_000023.10:g.76875960T>C	(Likely) benign	1 lab	e5b4851da6
17:29556420 NF1 G>GTATCCAATGC	17	29556420	29556433	G	GTATCCAATGC	NF1	c.2791_2800dup	NM_000267.3	NP_000258.1:p.(Phe934SerfsTer5)	NC_000017.10:g.29556424_29556433dup	(Likely) pathogenic	1 lab	e5b50b534e
11:124750356 ROBO3 G>C	11	124750356	124750356	G	C	ROBO3	c.4001G>C	NM_022370.3	NP_071765.2:p.(Arg1334Pro)	NC_000011.9:g.124750356G>C	(Likely) benign	1 lab	e5b5a1777b
8:144942950 EPPK1 C>T	8	144942950	144942950	C	T	EPPK1				NC_000008.10:g.144942950C>T	(Likely) benign	1 lab	e5bad5a824
2:73613056 ALMS1 G>GGAGGAA	2	73613056	73613062	G	GGAGGAA	ALMS1	c.68_69insAGAGGA	NM_015120.4	NP_055935.4:p.(Glu28_Glu29dup)	NC_000002.11:g.73613061_73613062insAGAGGA	(Likely) benign	1 lab	e5bc16087b
17:29654744 NF1 ACTG>A	17	29654744	29654747	ACTG	A	NF1	c.5497_5499del	NM_001042492.3	NP_001035957.1:p.(Leu1833del)	NC_000017.10:g.29654745_29654747del	VUS	1 lab	e5bcf4f338
2:179517417 TTN C>A	2	179517417	179517417	C	A	TTN	c.39006G>T	NM_001267550.1	NP_001254479.1:p.(Ser13002=)	NC_000002.11:g.179517417C>A	(Likely) benign	1 lab	e5be820e93
7:117227888 CFTR G>C	7	117227888	117227888	G	C	CFTR	c.1679+1G>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117227888G>C	(Likely) pathogenic	1 lab	e5bf076819
9:104125170 BAAT A>G	9	104125170	104125170	A	G	BAAT	c.797T>C	NM_001701.3	NP_001692.1:p.(Ile266Thr)	NC_000009.11:g.104125170A>G	(Likely) benign	1 lab	e5bf36051f
8:95853708 INTS8 G>A	8	95853708	95853708	G	A	INTS8	c.1018-11G>A	NM_017864.3	NP_060334.2:p.?	NC_000008.10:g.95853708G>A	(Likely) benign	1 lab	e5c09593e1
9:32989872 APTX C>A	9	32989872	32989872	C	A	APTX	c.18G>T	NM_175073.2	NP_778243.1:p.(Trp6Cys)	NC_000009.11:g.32989872C>A	VUS	1 lab	e5c0e1284e
3:37081713 MLH1 G>A	3	37081713	37081713	G	A	MLH1	c.1595G>A	NM_000249.3	NP_000240.1:p.(Gly532Asp)	NC_000003.11:g.37081713G>A	VUS	1 lab	e5c152d128
X:47433635 SYN1 C>G	X	47433635	47433635	C	G	SYN1	c.1748G>C	NM_006950.3	NP_008881.2:p.(Gly583Ala)	NC_000023.10:g.47433635C>G	(Likely) benign	1 lab	e5c1faf7cf
5:150036304 SYNPO ACCGCCCCCGCCC>A	5	150036304	150036338	ACCGCCCCCGCCC	A	SYNPO	c.2390_2401del	NM_007286.6	NP_009217.3:p.(Pro797_Pro800del)	NC_000005.9:g.150036327_150036338del	(Likely) benign	1 lab	e5c5070db8
17:41244617 BRCA1 T>TGG	17	41244617	41244620	T	TGG	BRCA1	c.2929_2930dup	NM_007294.3	NP_009225.1:p.(Tyr978HisfsTer23)	NC_000017.10:g.41244619_41244620dup	(Likely) pathogenic	1 lab	e5c849a56c
1:156126202 SEMA4A C>G	1	156126202	156126202	C	G	SEMA4A	c.140-3C>G	NM_001193300.1	NP_001180229.1:p.?	NC_000001.10:g.156126202C>G	VUS	1 lab	e5c957b20a
7:107570001 LAMB1 G>A	7	107570001	107570001	G	A	LAMB1	c.4601C>T	NM_002291.2	NP_002282.2:p.(Pro1534Leu)	NC_000007.13:g.107570001G>A	VUS	1 lab	e5c9640fcd
X:75397707 PBDC1 CAAAG>C	X	75397707	75397714	CAAAG	C	PBDC1	c.670_673del	NM_016500.5	NP_057584.2:p.(Glu224SerfsTer46)	NC_000023.10:g.75397711_75397714del	VUS	1 lab	e5c98a540b
4:187117243 CYP4V2 G>A	4	187117243	187117243	G	A	CYP4V2	c.413+1G>A	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187117243G>A	(Likely) pathogenic	1 lab	e5c9f06f3c
6:152763284 SYNE1 C>T	6	152763284	152763284	C	T	SYNE1	c.3934G>A	NM_182961.3	NP_892006.3:p.(Glu1312Lys)	NC_000006.11:g.152763284C>T	VUS	1 lab	e5ca256455
5:491990 SLC9A3 G>A	5	491990	491990	G	A	SLC9A3	c.408C>T	NM_004174.3	NP_004165.2:p.(Phe136=)	NC_000005.9:g.491990G>A	(Likely) benign	1 lab	e5cb116e66
9:117797539 TNC G>A	9	117797539	117797539	G	A	TNC	c.5731C>T	NM_002160.3	NP_002151.2:p.(Arg1911Trp)	NC_000009.11:g.117797539G>A	VUS	1 lab	e5ddcf61d7
2:179590229 TTN A>G	2	179590229	179590229	A	G	TTN	c.20702T>C	NM_001267550.1	NP_001254479.1:p.(Ile6901Thr)	NC_000002.11:g.179590229A>G	(Likely) benign	1 lab	e5ce7ec361
9:112900782 PALM2AKAP2 A>G	9	112900782	112900782	A	G	PALM2AKAP2	c.2532A>G	NM_001198656.1	NP_001185585.1:p.(Pro844=)	NC_000009.11:g.112900782A>G	(Likely) benign	1 lab	e5cf3deea0
1:198723433 PTPRC T>C	1	198723433	198723433	T	C	PTPRC	c.3545T>C	NM_002838.4	NP_002829.3:p.(Leu1182Ser)	NC_000001.10:g.198723433T>C	VUS	1 lab	e5cf74a2ef
17:29585518 NF1 A>C	17	29585518	29585518	A	C	NF1	c.4267A>C	NM_000267.3	NP_000258.1:p.(Lys1423Gln)	NC_000017.10:g.29585518A>C	VUS	1 lab	e5cff67ddf
16:15781331 NDE1 C>T	16	15781331	15781331	C	T	NDE1	c.486C>T	NM_001143979.1	NP_001137451.1:p.(Leu162=)	NC_000016.9:g.15781331C>T	(Likely) benign	1 lab	e5d3d8f6ff
X:30260504 MAGEB4 C>T	X	30260504	30260504	C	T	MAGEB4	c.252C>T	NM_002367.3	NP_002358.1:p.(Asp84=)	NC_000023.10:g.30260504C>T	(Likely) benign	1 lab	e5d5560aea
1:3334474 PRDM16 T>C	1	3334474	3334474	T	C	PRDM16	c.2774T>C	NM_022114.3	NP_071397.3:p.(Leu925Pro)	NC_000001.10:g.3334474T>C	VUS	1 lab	e5d961729e
10:43279912 BMS1 C>T	10	43279912	43279912	C	T	BMS1	c.70C>T	NM_014753.3	NP_055568.3:p.(Arg24Trp)	NC_000010.10:g.43279912C>T	(Likely) benign	1 lab	e5d9c05fa5
19:9089561 MUC16 T>C	19	9089561	9089561	T	C	MUC16	c.2254A>G	NM_024690.2	NP_078966.2:p.(Ile752Val)	NC_000019.9:g.9089561T>C	(Likely) benign	1 lab	e5da7c8e32
7:5428411 TNRC18 G>A	7	5428411	5428411	G	A	TNRC18	c.1044C>T	NM_001080495.2	NP_001073964.2:p.(Pro348=)	NC_000007.13:g.5428411G>A	(Likely) benign	1 lab	e5dbb08bf1
16:4382212 GLIS2 C>A	16	4382212	4382212	C	A	GLIS2	c.-66-4C>A	NM_001318918.1	NP_001305847.1:p.?	NC_000016.9:g.4382212C>A	(Likely) benign	1 lab	e5dc3165fe
22:42610558 TCF20 G>A	22	42610558	42610558	G	A	TCF20	c.754C>T	NM_005650.3	NP_005641.1:p.(Arg252Cys)	NC_000022.10:g.42610558G>A	VUS	1 lab	e5dd32424e
12:125461977 DHX37 G>A	12	125461977	125461977	G	A	DHX37	c.798C>T	NM_032656.4	NP_116045.2:p.(Ala266=)	NC_000012.11:g.125461977G>A	(Likely) benign	1 lab	e5dd6b25f6
5:78135201 ARSB C>T	5	78135201	78135201	C	T	ARSB	c.1191G>A	NM_000046.4	NP_000037.2:p.(Pro397=)	NC_000005.9:g.78135201C>T	(Likely) benign	1 lab	e5def0f8dc
17:26874364 UNC119 C>T	17	26874364	26874364	C	T	UNC119	c.389G>A	NM_001330166.1	NP_001317095.1:p.(Arg130Gln)	NC_000017.10:g.26874364C>T	VUS	1 lab	e5df3e78f0
17:80915296 QTGAL C>T	17	80915296	80915296	C	T	QTGAL	c.266G>A	NM_001320743.1	NP_001307672.1:p.(Trp89Ter)	NC_000017.10:g.80915296C>T	VUS	1 lab	e5e253ecde
20:43629984 STK4 A>G	20	43629984	43629984	A	G	STK4	c.1137A>G	NM_006282.2	NP_006273.1:p.(Gly379=)	NC_000020.10:g.43629984A>G	(Likely) benign	1 lab	e5e31e542c
3:142224044 ATR G>A	3	142224044	142224044	G	A	ATR	c.5133C>T	NM_001184.3	NP_001175.2:p.(Ser1711=)	NC_000003.11:g.142224044G>A	(Likely) benign	1 lab	e5e5ee95b1
2:111423917 BUB1 C>T	2	111423917	111423917	C	T	BUB1	c.880G>A	NM_004336.4	NP_004327.1:p.(Asp294Asn)	NC_000002.11:g.111423917C>T	(Likely) benign	1 lab	e5e7d9579a
8:11612603 GATA4 C>T	8	11612603	11612603	C	T	GATA4	c.958C>T	NM_002052.4	NP_002043.2:p.(Arg320Trp)	NC_000008.10:g.11612603C>T	(Likely) pathogenic	1 lab	e5e7fda73b
10:50669577 ERCC6 G>A	10	50669577	50669577	G	A	ERCC6	c.3804C>T	NM_000124.2	NP_000115.1:p.(His1268=)	NC_000010.10:g.50669577G>A	(Likely) benign	1 lab	e5e81d1745
11:70319148 SHANK2 G>A	11	70319148	70319148	G	A	SHANK2	c.3612C>T	NM_133266.3	NP_573573.2:p.(Ala1204=)	NC_000011.9:g.70319148G>A	(Likely) benign	1 lab	e5e9515f5e
18:44104800 LOXHD1 G>A	18	44104800	44104800	G	A	LOXHD1	c.4611C>T	NM_144612.6	NP_653213.6:p.(Cys1537=)	NC_000018.9:g.44104800G>A	(Likely) benign	1 lab	e5e97e89ef
5:428049 AHRR C>T	5	428049	428049	C	T	AHRR	c.902C>T	NM_020731.4	NP_065782.2:p.(Ala301Val)	NC_000005.9:g.428049C>T	(Likely) benign	1 lab	e5ea9de598
2:234719488 MROH2A A>G	2	234719488	234719488	A	G	MROH2A	c.2497A>G	NM_001367507.1	NP_001354436.1:p.(Lys833Glu)	NC_000002.11:g.234719488A>G	(Likely) benign	1 lab	e5eba5652e
17:1636937 WDR81 C>G	17	1636937	1636937	C	G	WDR81	c.4606C>G	NM_001163809.1	NP_001157281.1:p.(Pro1536Ala)	NC_000017.10:g.1636937C>G	(Likely) benign	1 lab	e5ebc1762a
15:44858174 SPG11 G>A	15	44858174	44858174	G	A	SPG11	c.6877C>T	NM_025137.3	NP_079413.3:p.(Arg2293Trp)	NC_000015.9:g.44858174G>A	VUS	1 lab	e5ef36a6f3
X:47308087 ZNF41 C>T	X	47308087	47308087	C	T	ZNF41	c.1082G>A	NM_007130.3	NP_009061.1:p.(Gly361Glu)	NC_000023.10:g.47308087C>T	VUS	1 lab	e5f0ac5f2d
14:74757091 ABCD4 C>T	14	74757091	74757091	C	T	ABCD4	c.1230G>A	NM_020325.2	NP_064730.1:p.(Lys410=)	NC_000014.8:g.74757091C>T	(Likely) benign	1 lab	e5f0ca42eb
1:216052165 USH2A A>G	1	216052165	216052165	A	G	USH2A	c.8499T>C	NM_206933.2	NP_996816.2:p.(Ser2833=)	NC_000001.10:g.216052165A>G	(Likely) benign	1 lab	e5f2af2c75
2:179595803 TTN C>A	2	179595803	179595803	C	A	TTN	c.17589G>T	NM_001267550.1	NP_001254479.1:p.(Leu5863=)	NC_000002.11:g.179595803C>A	(Likely) benign	1 lab	e5f3b872e0
9:14842329 FREM1 C>T	9	14842329	14842329	C	T	FREM1	c.1723G>A	NM_144966.5	NP_659403.4:p.(Gly575Arg)	NC_000009.11:g.14842329C>T	VUS	1 lab	e5f5922470
17:61800695 STRADA G>C	17	61800695	61800695	G	C	STRADA	c.95-9C>G	NM_001003787.3	NP_001003787.1:p.?	NC_000017.10:g.61800695G>C	(Likely) benign	1 lab	e5f6006ded
19:10469965 TYK2 T>C	19	10469965	10469965	T	C	TYK2	c.2061A>G	NM_003331.4	NP_003322.3:p.(Thr687=)	NC_000019.9:g.10469965T>C	(Likely) benign	1 lab	e5f6887e81
5:149240529 PDE6A C>T	5	149240529	149240529	C	T	PDE6A	c.2512G>A	NM_000440.2	NP_000431.2:p.(Ala838Thr)	NC_000005.9:g.149240529C>T	(Likely) benign	1 lab	e5f84289f2
13:110830485 COL4A1 G>A	13	110830485	110830485	G	A	COL4A1	c.2552C>T	NM_001845.5	NP_001836.3:p.(Pro851Leu)	NC_000013.10:g.110830485G>A	(Likely) pathogenic	1 lab	e5f8a772b5
7:5770400 RNF216 G>A	7	5770400	5770400	G	A	RNF216	c.1170C>T	NM_207111.3	NP_996994.1:p.(Asp390=)	NC_000007.13:g.5770400G>A	(Likely) benign	1 lab	e5f99f1ff5
12:124979785 NCOR2 T>C	12	124979785	124979785	T	C	NCOR2	c.13A>G	NM_006312.5	NP_006303.4:p.(Thr5Ala)	NC_000012.11:g.124979785T>C	(Likely) benign	1 lab	e5f9da1477
7:130044399 CEP41 G>A	7	130044399	130044399	G	A	CEP41	c.422+6C>T	NM_018718.2	NP_061188.1:p.?	NC_000007.13:g.130044399G>A	(Likely) benign	1 lab	e5fbbbab25
13:32953461 BRCA2 TCAGTGAAGAG>T	13	32953461	32953475	TCAGTGAAGAG	T	BRCA2	c.8767_8776del	NM_000059.4	NP_000050.3:p.(Glu2923Ter)	NC_000013.10:g.32953466_32953475del	(Likely) pathogenic	1 lab	e5fce77f4c
3:52559106 NT5DC2 C>T	3	52559106	52559106	C	T	NT5DC2	c.1109G>A	NM_022908.2	NP_075059.1:p.(Arg370Gln)	NC_000003.11:g.52559106C>T	VUS	1 lab	e5fcf2d3f9
18:32405227 DTNA A>G	18	32405227	32405227	A	G	DTNA	c.1002-4A>G	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32405227A>G	(Likely) benign	1 lab	e5ff2dd683
7:21781775 DNAH11 C>T	7	21781775	21781775	C	T	DNAH11				NC_000007.13:g.21781775C>T	(Likely) benign	1 lab	e5ff6b8412
X:49173686 GAGE10 A>G	X	49173686	49173686	A	G	GAGE10	c.247A>G	NM_001098413.3	NP_001091883.3:p.(Thr83Ala)	NC_000023.10:g.49173686A>G	(Likely) benign	1 lab	e5ff76d9a5
X:15800677 CA5B C>T	X	15800677	15800677	C	T	CA5B	c.844C>T	NM_007220.3	NP_009151.1:p.(Arg282Cys)	NC_000023.10:g.15800677C>T	VUS	1 lab	e603d33a69
X:53576423 HUWE1 G>A	X	53576423	53576423	G	A	HUWE1	c.9532C>T	NM_031407.6	NP_113584.3:p.(Arg3178Trp)	NC_000023.10:g.53576423G>A	VUS	1 lab	e603dbf8f0
19:9046965 MUC16 C>T	19	9046965	9046965	C	T	MUC16	c.34666G>A	NM_024690.2	NP_078966.2:p.(Asp11556Asn)	NC_000019.9:g.9046965C>T	VUS	1 lab	e608752655
15:31332445 TRPM1 G>A	15	31332445	31332445	G	A	TRPM1	c.2243C>T	NM_001252020.1	NP_001238949.1:p.(Ser748Leu)	NC_000015.9:g.31332445G>A	VUS	1 lab	e60bd55f28
17:8792003 PIK3R5 C>T	17	8792003	8792003	C	T	PIK3R5	c.1101G>A	NM_014308.3	NP_055123.2:p.(Ser367=)	NC_000017.10:g.8792003C>T	(Likely) benign	1 lab	e60e289d9f
7:77256569 PTPN12 C>T	7	77256569	77256569	C	T	PTPN12	c.1573C>T	NM_002835.3	NP_002826.3:p.(Arg525Cys)	NC_000007.13:g.77256569C>T	(Likely) benign	1 lab	e60e2fc735
7:103014922 SLC26A5 G>GC	7	103014922	103014923	G	GC	SLC26A5	c.2158dup	NM_198999.2	NP_945350.1:p.(Ala720GlyfsTer2)	NC_000007.13:g.103014923dup	(Likely) pathogenic	1 lab	e60f207ee3
18:72775474 ZNF407 C>G	18	72775474	72775474	C	G	ZNF407	c.5797C>G	NM_017757.2	NP_060227.2:p.(Gln1933Glu)	NC_000018.9:g.72775474C>G	VUS	1 lab	e60fa6d633
1:203045479 PPFIA4 C>T	1	203045479	203045479	C	T	PPFIA4	c.3585C>T	NM_001304331.1	NP_001291260.1:p.(His1195=)	NC_000001.10:g.203045479C>T	(Likely) benign	1 lab	e610ce48d1
10:134219258 PWWP2B C>T	10	134219258	134219258	C	T	PWWP2B	c.1254C>T	NM_138499.4	NP_612508.3:p.(Ala418=)	NC_000010.10:g.134219258C>T	(Likely) benign	1 lab	e61235995e
6:132182809 ENPP1 C>T	6	132182809	132182809	C	T	ENPP1	c.990C>T	NM_006208.3	NP_006199.2:p.(Asn330=)	NC_000006.11:g.132182809C>T	(Likely) benign	1 lab	e612b847a6
X:135289353 FHL1 C>T	X	135289353	135289353	C	T	FHL1	c.331+4C>T	NM_001159702.2	NP_001153174.1:p.?	NC_000023.10:g.135289353C>T	VUS	1 lab	e6135609f5
9:123253661 CDK5RAP2 T>C	9	123253661	123253661	T	C	CDK5RAP2	c.1406A>G	NM_018249.5	NP_060719.4:p.(Asn469Ser)	NC_000009.11:g.123253661T>C	(Likely) benign	1 lab	e6153af9ed
11:88911477 TYR T>C	11	88911477	88911477	T	C	TYR	c.356T>C	NM_000372.4	NP_000363.1:p.(Val119Ala)	NC_000011.9:g.88911477T>C	VUS	1 lab	e6157c396b
6:86223813 SNX14 C>T	6	86223813	86223813	C	T	SNX14	c.2532G>A	NM_153816.5	NP_722523.1:p.(Leu844=)	NC_000006.11:g.86223813C>T	(Likely) benign	1 lab	e617ff479f
3:48618316 COL7A1 C>G	3	48618316	48618316	C	G	COL7A1	c.4979G>C	NM_000094.3	NP_000085.1:p.(Arg1660Pro)	NC_000003.11:g.48618316C>G	VUS	1 lab	e61d1bcefb
13:37427769 SMAD9 G>A	13	37427769	37427769	G	A	SMAD9	c.1047C>T	NM_001127217.2	NP_001120689.1:p.(Cys349=)	NC_000013.10:g.37427769G>A	(Likely) benign	1 lab	e61f2dad0c
13:32913888 BRCA2 C>T	13	32913888	32913888	C	T	BRCA2	c.5396C>T	NM_000059.3	NP_000050.2:p.(Ala1799Val)	NC_000013.10:g.32913888C>T	(Likely) benign	1 lab	e61fa5fde1
12:57958726 KIF5A C>T	12	57958726	57958726	C	T	KIF5A	c.471C>T	NM_004984.3	NP_004975.2:p.(His157=)	NC_000012.11:g.57958726C>T	(Likely) benign	1 lab	e61fca9783
X:107850029 COL4A5 A>G	X	107850029	107850029	A	G	COL4A5	c.2302A>G	NM_033380.2	NP_203699.1:p.(Lys768Glu)	NC_000023.10:g.107850029A>G	VUS	1 lab	e622e4bdf1
22:30070823 NF2 A>C	22	30070823	30070823	A	C	NF2	c.1341-2A>C	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30070823A>C	(Likely) pathogenic	1 lab	e6244699fa
17:28537586 SLC6A4 C>T	17	28537586	28537586	C	T	SLC6A4	c.1396G>A	NM_001045.5	NP_001036.1:p.(Val466Met)	NC_000017.10:g.28537586C>T	VUS	1 lab	e62560ea28
17:76121883 TMC6 C>T	17	76121883	76121883	C	T	TMC6	c.354G>A	NM_001127198.2	NP_001120670.1:p.(Gly118=)	NC_000017.10:g.76121883C>T	(Likely) benign	1 lab	e626448e8a
X:53277985 IQSEC2 G>T	X	53277985	53277985	G	T	IQSEC2	c.2377C>A	NM_001111125.2	NP_001104595.1:p.(Leu793Met)	NC_000023.10:g.53277985G>T	VUS	1 lab	e62893613b
3:33038839 GLB1 G>GGA	3	33038839	33038851	G	GGA	GLB1	c.1735-5_1735-4dup	NM_000404.3	NP_000395.2:p.?	NC_000003.11:g.33038850_33038851dup	(Likely) benign	1 lab	e628a8e5a5
7:121652349 PTPRZ1 G>A	7	121652349	121652349	G	A	PTPRZ1	c.3249G>A	NM_002851.2	NP_002842.2:p.(Ala1083=)	NC_000007.13:g.121652349G>A	(Likely) benign	1 lab	e62a3eaf2e
8:1871948 ARHGEF10 G>A	8	1871948	1871948	G	A	ARHGEF10	c.2396G>A	NM_014629.2	NP_055444.2:p.(Arg799Gln)	NC_000008.10:g.1871948G>A	VUS	1 lab	e62afb60ab
21:46893833 COL18A1 C>T	21	46893833	46893833	C	T	COL18A1	c.1921C>T	NM_130444.3	NP_569711.2:p.(Arg641Cys)	NC_000021.8:g.46893833C>T	VUS	1 lab	e62afbe0f4
17:29667610 NF1 C>CTTT	17	29667610	29667613	C	CTTT	NF1	c.6948_6949insTTT	NM_000267.3	NP_000258.1:p.(Leu2316_Leu2317insPhe)	NC_000017.10:g.29667612_29667613insTTT	VUS	1 lab	e62b346e1d
6:152469496 SYNE1 G>A	6	152469496	152469496	G	A	SYNE1	c.24660C>T	NM_182961.3	NP_892006.3:p.(His8220=)	NC_000006.11:g.152469496G>A	(Likely) benign	1 lab	e62b3c5119
3:4776935 ITPR1 A>G	3	4776935	4776935	A	G	ITPR1	c.5396A>G	NM_001168272.1	NP_001161744.1:p.(Asn1799Ser)	NC_000003.11:g.4776935A>G	(Likely) benign	1 lab	e62b79ca1d
15:78398175 CIB2 C>T	15	78398175	78398175	C	T	CIB2	c.463G>A	NM_001301224.1	NP_001288153.1:p.(Asp155Asn)	NC_000015.9:g.78398175C>T	VUS	1 lab	e62bd11909
17:31098168 MYO1D T>C	17	31098168	31098168	T	C	MYO1D	c.689A>G	NM_015194.3	NP_056009.1:p.(Tyr230Cys)	NC_000017.10:g.31098168T>C	VUS	1 lab	e62d4cdead
5:140574169 PCDHB10 C>G	5	140574169	140574169	C	G	PCDHB10	c.2044C>G	NM_018930.3	NP_061753.1:p.(Gln682Glu)	NC_000005.9:g.140574169C>G	(Likely) benign	1 lab	e62da9a245
11:533506 HRAS G>A	11	533506	533506	G	A	HRAS	c.397C>T	NM_176795.4	NP_789765.1:p.(Leu133Phe)	NC_000011.9:g.533506G>A	VUS	1 lab	e62faa61b3
16:81922815 PLCG2 G>A	16	81922815	81922815	G	A	PLCG2	c.804G>A	NM_002661.3	NP_002652.2:p.(Arg268=)	NC_000016.9:g.81922815G>A	(Likely) benign	1 lab	e62fae087d
2:179522819 TTN CT>C	2	179522819	179522821	CT	C	TTN	c.37776del	NM_001267550.2	NP_001254479.2:p.(Ala12593LeufsTer354)	NC_000002.11:g.179522821del	VUS	1 lab	e630ae94e7
4:3514715 LRPAP1 G>C	4	3514715	3514715	G	C	LRPAP1	c.1060C>G	NM_002337.4	NP_002328.1:p.(His354Asp)	NC_000004.11:g.3514715G>C	VUS	1 lab	e630b817a9
7:65548151 ASL C>T	7	65548151	65548151	C	T	ASL	c.436C>T	NM_001024943.1	NP_001020114.1:p.(Arg146Trp)	NC_000007.13:g.65548151C>T	VUS	1 lab	e6329a3510
3:184079208 CLCN2 G>A	3	184079208	184079208	G	A	CLCN2	c.60C>T	NM_004366.5	NP_004357.3:p.(Thr20=)	NC_000003.11:g.184079208G>A	(Likely) benign	1 lab	e632a880ca
20:3870159 PANK2 A>G	20	3870159	3870159	A	G	PANK2	c.412A>G	NM_153638.2	NP_705902.2:p.(Arg138Gly)	NC_000020.10:g.3870159A>G	(Likely) benign	1 lab	e6333df1bc
20:60847261 OSBPL2 C>T	20	60847261	60847261	C	T	OSBPL2	c.339C>T	NM_144498.2	NP_653081.1:p.(His113=)	NC_000020.10:g.60847261C>T	(Likely) benign	1 lab	e634d13aac
10:5808065 GDI2 A>C	10	5808065	5808065	A	C	GDI2	c.1242T>G	NM_001494.4	NP_001485.2:p.(Cys414Trp)	NC_000010.10:g.5808065A>C	VUS	1 lab	e637ecb871
12:6094774 VWF C>T	12	6094774	6094774	C	T	VWF	c.6856G>A	NM_000552.3	NP_000543.2:p.(Gly2286Arg)	NC_000012.11:g.6094774C>T	(Likely) benign	1 lab	e63c7b17a3
1:3347610 PRDM16 C>T	1	3347610	3347610	C	T	PRDM16	c.3459C>T	NM_022114.3	NP_071397.3:p.(Tyr1153=)	NC_000001.10:g.3347610C>T	(Likely) benign	1 lab	e63e5dc2f8
2:232220620 ARMC9 C>T	2	232220620	232220620	C	T	ARMC9	c.2105C>T	NM_001271466.3	NP_001258395.1:p.(Thr702Ile)	NC_000002.11:g.232220620C>T	VUS	1 lab	e641f94484
14:31359024 COCH A>T	14	31359024	31359024	A	T	COCH	c.*27A>T	NM_001135058.1	NP_001128530.1:p.?	NC_000014.8:g.31359024A>T	(Likely) benign	1 lab	e641f9abd3
22:32211057 DEPDC5 C>T	22	32211057	32211057	C	T	DEPDC5	c.1525C>T	NM_001242896.2	NP_001229825.1:p.(Arg509Cys)	NC_000022.10:g.32211057C>T	VUS	1 lab	e641faaa96
14:102508608 DYNC1H1 C>T	14	102508608	102508608	C	T	DYNC1H1	c.12258C>T	NM_001376.4	NP_001367.2:p.(Thr4086=)	NC_000014.8:g.102508608C>T	(Likely) benign	1 lab	e642c79be2
3:189691738 P3H2 T>C	3	189691738	189691738	T	C	P3H2	c.1508A>G	NM_018192.4	NP_060662.2:p.(Asn503Ser)	NC_000003.11:g.189691738T>C	VUS	1 lab	e6434326ae
17:29654575 NF1 C>CA	17	29654575	29654576	C	CA	NF1	c.5265dup	NM_000267.3	NP_000258.1:p.(Val1756SerfsTer5)	NC_000017.10:g.29654576dup	(Likely) pathogenic	1 lab	e6439a2d2f
19:1254321 MIDN G>T	19	1254321	1254321	G	T	MIDN	c.540G>T	NM_177401.4	NP_796375.3:p.(Gly180=)	NC_000019.9:g.1254321G>T	(Likely) benign	1 lab	e644588712
6:112466082 LAMA4 C>T	6	112466082	112466082	C	T	LAMA4	c.2407G>A	NM_001105206.2	NP_001098676.2:p.(Glu803Lys)	NC_000006.11:g.112466082C>T	VUS	1 lab	e644b411b5
2:74595972 DCTN1 G>C	2	74595972	74595972	G	C	DCTN1	c.1737C>G	NM_004082.4	NP_004073.2:p.(Ala579=)	NC_000002.11:g.74595972G>C	(Likely) benign	1 lab	e644fd324d
22:51113661 MISSING G>T	22	51113661	51113661	G	T	MISSING				NC_000022.10:g.51113661G>T	(Likely) benign	1 lab	e64556cca5
17:29527519 NF1 C>A	17	29527519	29527519	C	A	NF1	c.968C>A	NM_000267.3	NP_000258.1:p.(Ala323Asp)	NC_000017.10:g.29527519C>A	(Likely) pathogenic	1 lab	e6481eaa0b
17:1264430 YWHAE G>A	17	1264430	1264430	G	A	YWHAE	c.534C>T	NM_006761.4	NP_006752.1:p.(Ser178=)	NC_000017.10:g.1264430G>A	(Likely) benign	1 lab	e64887ac82
16:4432503 VASN G>A	16	4432503	4432503	G	A	VASN	c.1625G>A	NM_138440.3	NP_612449.2:p.(Arg542Gln)	NC_000016.9:g.4432503G>A	VUS	1 lab	e649c06e81
X:119445132 TMEM255A G>A	X	119445132	119445132	G	A	TMEM255A	c.33C>T	NM_017938.3	NP_060408.3:p.(Ser11=)	NC_000023.10:g.119445132G>A	(Likely) benign	1 lab	e64cb6851f
18:60036009 TNFRSF11A C>T	18	60036009	60036009	C	T	TNFRSF11A	c.817C>T	NM_001278268.1	NP_001265197.1:p.(Leu273=)	NC_000018.9:g.60036009C>T	(Likely) benign	1 lab	e64f194e7d
14:50655308 SOS2 G>A	14	50655308	50655308	G	A	SOS2	c.621C>T	NM_006939.3	NP_008870.2:p.(Ile207=)	NC_000014.8:g.50655308G>A	(Likely) benign	1 lab	e6525a4fca
6:44222986 SLC35B2 C>T	6	44222986	44222986	C	T	SLC35B2	c.357G>A	NM_001286520.1	NP_001273449.1:p.(Met119Ile)	NC_000006.11:g.44222986C>T	(Likely) benign	1 lab	e653ffe744
17:56270893 EPX C>T	17	56270893	56270893	C	T	EPX	c.332C>T	NM_000502.5	NP_000493.1:p.(Pro111Leu)	NC_000017.10:g.56270893C>T	VUS	1 lab	e65494f798
13:25457385 CPAP G>A	13	25457385	25457385	G	A	CPAP	c.3947C>T	NM_018451.4	NP_060921.3:p.(Thr1316Met)	NC_000013.10:g.25457385G>A	VUS	1 lab	e657ddf720
15:78882331 CHRNA5 A>G	15	78882331	78882331	A	G	CHRNA5	c.598A>G	NM_000745.3	NP_000736.2:p.(Ile200Val)	NC_000015.9:g.78882331A>G	(Likely) benign	1 lab	e65808e44c
11:17650821 OTOG G>A	11	17650821	17650821	G	A	OTOG	c.6706G>A	NM_001277269.1	NP_001264198.1:p.(Glu2236Lys)	NC_000011.9:g.17650821G>A	VUS	1 lab	e659d83baa
X:48762358 SLC35A2 G>A	X	48762358	48762358	G	A	SLC35A2	c.912C>T	NM_001282651.1	NP_001269580.1:p.(Leu304=)	NC_000023.10:g.48762358G>A	(Likely) benign	1 lab	e65b3959d3
1:120468156 NOTCH2 T>C	1	120468156	120468156	T	C	NOTCH2	c.4283A>G	NM_024408.3	NP_077719.2:p.(Gln1428Arg)	NC_000001.10:g.120468156T>C	(Likely) benign	1 lab	e65c15b1cd
3:10188309 VHL T>G	3	10188309	10188309	T	G	VHL	c.452T>G	NM_000551.3	NP_000542.1:p.(Ile151Ser)	NC_000003.11:g.10188309T>G	(Likely) pathogenic	1 lab	e65c6d7081
X:72667328 CDX4 G>A	X	72667328	72667328	G	A	CDX4	c.239G>A	NM_005193.1	NP_005184.1:p.(Arg80Gln)	NC_000023.10:g.72667328G>A	VUS	1 lab	e65def40bb
X:48403289 TBC1D25 G>T	X	48403289	48403289	G	T	TBC1D25	c.266G>T	NM_002536.3	NP_002527.1:p.(Arg89Leu)	NC_000023.10:g.48403289G>T	(Likely) benign	1 lab	e65e43af9d
16:72003973 PKD1L3 T>A	16	72003973	72003973	T	A	PKD1L3	c.1985A>T	NM_181536.1	NP_853514.1:p.(Gln662Leu)	NC_000016.9:g.72003973T>A	VUS	1 lab	e6629f8647
20:47645002 ARFGEF2 G>GT	20	47645002	47645003	G	GT	ARFGEF2	c.4925-64dup	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47645003dup	(Likely) benign	1 lab	e662cf04c8
5:77536723 AP3B1 G>A	5	77536723	77536723	G	A	AP3B1	c.95C>T	NM_001271769.1	NP_001258698.1:p.(Pro32Leu)	NC_000005.9:g.77536723G>A	VUS	1 lab	e663161736
16:50745466 NOD2 G>A	16	50745466	50745466	G	A	NOD2	c.1644G>A	NM_022162.1	NP_071445.1:p.(Leu548=)	NC_000016.9:g.50745466G>A	(Likely) benign	1 lab	e663a6d289
6:161533750 MAP3K4 C>T	6	161533750	161533750	C	T	MAP3K4	c.2929C>T	NM_001291958.1	NP_001278887.1:p.(Arg977Cys)	NC_000006.11:g.161533750C>T	VUS	1 lab	e663f054a7
18:34261509 FHOD3 A>G	18	34261509	34261509	A	G	FHOD3	c.1946A>G	NM_001281740.2	NP_001268669.1:p.(Glu649Gly)	NC_000018.9:g.34261509A>G	VUS	1 lab	e664089f22
4:5624278 EVC2 C>T	4	5624278	5624278	C	T	EVC2	c.2247G>A	NM_001166136.1	NP_001159608.1:p.(Glu749=)	NC_000004.11:g.5624278C>T	(Likely) benign	1 lab	e6661aff29
4:15587777 CC2D2A C>A	4	15587777	15587777	C	A	CC2D2A	c.3976-3C>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15587777C>A	VUS	1 lab	e666707e33
1:228345439 GJC2 A>AGGGGC	1	228345439	228345442	A	AGGGGC	GJC2	c.-19_-18insGGCGG	NM_020435.3	NP_065168.2:p.?	NC_000001.10:g.228345441_228345442insGGCGG	(Likely) benign	1 lab	e667ae4b03
1:215808041 USH2A C>G	1	215808041	215808041	C	G	USH2A	c.15057G>C	NM_206933.2	NP_996816.2:p.(Leu5019Phe)	NC_000001.10:g.215808041C>G	VUS	1 lab	e6681085e0
19:42400544 ARHGEF1 C>T	19	42400544	42400544	C	T	ARHGEF1	c.1155C>T	NM_199002.1	NP_945353.1:p.(Ala385=)	NC_000019.9:g.42400544C>T	(Likely) benign	1 lab	e668812e61
5:76646928 PDE8B G>A	5	76646928	76646928	G	A	PDE8B	c.684G>A	NM_001349753.1	NP_001336682.1:p.(Gly228=)	NC_000005.9:g.76646928G>A	(Likely) benign	1 lab	e66936416c
2:200244917 SATB2 A>G	2	200244917	200244917	A	G	SATB2	c.597+170T>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200244917A>G	(Likely) benign	1 lab	e66bae258b
2:179460412 TTN C>A	2	179460412	179460412	C	A	TTN	c.57669G>T	NM_001267550.1	NP_001254479.1:p.(Lys19223Asn)	NC_000002.11:g.179460412C>A	VUS	1 lab	e66c8d3c77
5:14287071 TRIO G>T	5	14287071	14287071	G	T	TRIO	c.439G>T	NM_007118.3	NP_009049.2:p.(Glu147Ter)	NC_000005.9:g.14287071G>T	(Likely) pathogenic	1 lab	e66e162a39
1:22186395 HSPG2 G>C	1	22186395	22186395	G	C	HSPG2	c.5118C>G	NM_001291860.1	NP_001278789.1:p.(Pro1706=)	NC_000001.10:g.22186395G>C	(Likely) benign	1 lab	e66fec7351
3:4704872 ITPR1 A>G	3	4704872	4704872	A	G	ITPR1	c.1491A>G	NM_001168272.1	NP_001161744.1:p.(Glu497=)	NC_000003.11:g.4704872A>G	(Likely) benign	1 lab	e6706dc0d6
11:62289889 AHNAK C>T	11	62289889	62289889	C	T	AHNAK	c.12000G>A	NM_001620.2	NP_001611.1:p.(Lys4000=)	NC_000011.9:g.62289889C>T	(Likely) benign	1 lab	e670d5521a
4:55948187 KDR T>C	4	55948187	55948187	T	C	KDR	c.3784A>G	NM_002253.3	NP_002244.1:p.(Met1262Val)	NC_000004.11:g.55948187T>C	VUS	1 lab	e67135e592
16:67681837 CARMIL2 G>C	16	67681837	67681837	G	C	CARMIL2	c.1047G>C	NM_001013838.2	NP_001013860.1:p.(Ala349=)	NC_000016.9:g.67681837G>C	(Likely) benign	1 lab	e6726bbc57
3:129305038 PLXND1 G>A	3	129305038	129305038	G	A	PLXND1	c.1698C>T	NM_015103.2	NP_055918.2:p.(Cys566=)	NC_000003.11:g.129305038G>A	(Likely) benign	1 lab	e672cbe171
22:50515289 MLC1 C>T	22	50515289	50515289	C	T	MLC1	c.578G>A	NM_015166.3	NP_055981.1:p.(Arg193Gln)	NC_000022.10:g.50515289C>T	VUS	1 lab	e6747ab39e
12:39724546 KIF21A A>ACCATGCTTTACAAGG	12	39724546	39724549	A	ACCATGCTTTACAAGG	KIF21A	c.3319+1_3319+2insCCTTGTAAAGCATGG	NM_001173464.1	NP_001166935.1:p.?	NC_000012.11:g.39724548_39724549insATGCTTTACAAGGCC	(Likely) benign	1 lab	e674f7849a
6:43618160 RSPH9 G>A	6	43618160	43618160	G	A	RSPH9	c.276G>A	NM_001193341.1	NP_001180270.1:p.(Met92Ile)	NC_000006.11:g.43618160G>A	(Likely) benign	1 lab	e675ce425b
6:24528249 ALDH5A1 G>A	6	24528249	24528249	G	A	ALDH5A1	c.1237G>A	NM_170740.1	NP_733936.1:p.(Val413Ile)	NC_000006.11:g.24528249G>A	(Likely) benign	1 lab	e67608c123
X:48688123 ERAS A>G	X	48688123	48688123	A	G	ERAS	c.590A>G	NM_181532.3	NP_853510.1:p.(His197Arg)	NC_000023.10:g.48688123A>G	(Likely) benign	1 lab	e6761b1299
7:99796940 STAG3 G>A	7	99796940	99796940	G	A	STAG3	c.1523G>A	NM_001282717.1	NP_001269646.1:p.(Arg508Gln)	NC_000007.13:g.99796940G>A	(Likely) benign	1 lab	e6789f2abc
5:41176625 C6 C>T	5	41176625	41176625	C	T	C6	c.1120G>A	NM_001115131.2	NP_001108603.2:p.(Val374Met)	NC_000005.9:g.41176625C>T	(Likely) benign	1 lab	e67909588e
3:15685842 BTD G>C	3	15685842	15685842	G	C	BTD	c.479G>C	NM_000060.4	NP_000051.1:p.(Cys160Ser)	NC_000003.11:g.15685842G>C	VUS	1 lab	e67962345d
X:131762948 HS6ST2 G>T	X	131762948	131762948	G	T	HS6ST2	c.1241C>A	NM_001077188.1	NP_001070656.1:p.(Pro414His)	NC_000023.10:g.131762948G>T	(Likely) benign	1 lab	e679a7c50f
15:73622102 HCN4 C>T	15	73622102	73622102	C	T	HCN4	c.1402G>A	NM_005477.2	NP_005468.1:p.(Ala468Thr)	NC_000015.9:g.73622102C>T	VUS	1 lab	e67b1f424f
22:37271857 NCF4 G>A	22	37271857	37271857	G	A	NCF4	c.790G>A	NM_013416.3	NP_038202.2:p.(Ala264Thr)	NC_000022.10:g.37271857G>A	(Likely) benign	1 lab	e67d8ab143
11:45832846 SLC35C1 C>A	11	45832846	45832846	C	A	SLC35C1	c.1055C>A	NM_018389.4	NP_060859.4:p.(Pro352His)	NC_000011.9:g.45832846C>A	VUS	1 lab	e67e4f6fde
11:76371300 LRRC32 C>T	11	76371300	76371300	C	T	LRRC32	c.1337G>A	NM_005512.2	NP_005503.1:p.(Arg446His)	NC_000011.9:g.76371300C>T	(Likely) benign	1 lab	e67e72cc6a
15:77287856 PSTPIP1 C>A	15	77287856	77287856	C	A	PSTPIP1	c.137C>A	NM_001321137.1	NP_001308066.1:p.(Ala46Asp)	NC_000015.9:g.77287856C>A	VUS	1 lab	e67ed961ac
X:102192363 RAB40AL C>G	X	102192363	102192363	C	G	RAB40AL	c.117C>G	NM_001031834.1	NP_001027004.1:p.(Ala39=)	NC_000023.10:g.102192363C>G	(Likely) benign	1 lab	e681f4b1de
1:160106416 ATP1A2 G>A	1	160106416	160106416	G	A	ATP1A2				NC_000001.10:g.160106416G>A	(Likely) pathogenic	1 lab	e6827ec534
16:4755155 ANKS3 C>T	16	4755155	4755155	C	T	ANKS3	c.809G>A	NM_133450.3	NP_597707.1:p.(Arg270Gln)	NC_000016.9:g.4755155C>T	(Likely) benign	1 lab	e6828e5e5b
18:7050860 LAMA1 G>A	18	7050860	7050860	G	A	LAMA1	c.421C>T	NM_005559.3	NP_005550.2:p.(Leu141=)	NC_000018.9:g.7050860G>A	(Likely) benign	1 lab	e685e77948
X:49061736 CACNA1F G>A	X	49061736	49061736	G	A	CACNA1F	c.5795C>T	NM_005183.3	NP_005174.2:p.(Thr1932Met)	NC_000023.10:g.49061736G>A	VUS	1 lab	e6863903c4
21:47532319 COL6A2 G>A	21	47532319	47532319	G	A	COL6A2	c.542G>A	NM_058175.2	NP_478055.2:p.(Arg181His)	NC_000021.8:g.47532319G>A	VUS	1 lab	e687a02861
11:67925832 KMT5B C>T	11	67925832	67925832	C	T	KMT5B	c.1981G>A	NM_017635.4	NP_060105.3:p.(Val661Met)	NC_000011.9:g.67925832C>T	(Likely) benign	1 lab	e688164afc
8:42397004 SLC20A2 C>T	8	42397004	42397004	C	T	SLC20A2				NC_000008.10:g.42397004C>T	(Likely) benign	1 lab	1de1e62257
7:31793137 PDE1C C>T	7	31793137	31793137	C	T	PDE1C	c.2171G>A	NM_001191058.3	NP_001177987.2:p.(Arg724His)	NC_000007.13:g.31793137C>T	VUS	1 lab	e68a04843f
X:151935886 MAGEA3 C>T	X	151935886	151935886	C	T	MAGEA3	c.281G>A	NM_005362.3	NP_005353.1:p.(Gly94Glu)	NC_000023.10:g.151935886C>T	(Likely) benign	1 lab	e68aebef4b
11:9113007 SCUBE2 C>T	11	9113007	9113007	C	T	SCUBE2	c.69G>A	NM_020974.2	NP_066025.2:p.(Pro23=)	NC_000011.9:g.9113007C>T	(Likely) benign	1 lab	e68bc8bd45
X:1424378 CSF2RA G>A	X	1424378	1424378	G	A	CSF2RA	c.986G>A	NM_172247.2	NP_758450.1:p.(Arg329Lys)	NC_000023.10:g.1424378G>A	(Likely) benign	1 lab	e68c3989a5
4:141484340 UCP1 A>G	4	141484340	141484340	A	G	UCP1	c.552T>C	NM_021833.4	NP_068605.1:p.(Ser184=)	NC_000004.11:g.141484340A>G	(Likely) benign	1 lab	e68ca9917b
6:42946864 PEX6 G>A	6	42946864	42946864	G	A	PEX6	c.25C>T	NM_000287.3	NP_000278.3:p.(Leu9=)	NC_000006.11:g.42946864G>A	(Likely) benign	1 lab	e68d11a475
16:78143716 WWOX C>T	16	78143716	78143716	C	T	WWOX	c.214C>T	NM_016373.3	NP_057457.1:p.(Gln72Ter)	NC_000016.9:g.78143716C>T	(Likely) pathogenic	1 lab	e68dfa6d4b
X:152830381 ATP2B3 C>A	X	152830381	152830381	C	A	ATP2B3	c.3162C>A	NM_021949.3	NP_068768.2:p.(Val1054=)	NC_000023.10:g.152830381C>A	(Likely) benign	1 lab	e68f6fa9e8
8:10468759 RP1L1 C>T	8	10468759	10468759	C	T	RP1L1	c.2849G>A	NM_178857.5	NP_849188.4:p.(Arg950His)	NC_000008.10:g.10468759C>T	VUS	1 lab	e6900f2bd6
1:164761816 PBX1 GGC>G	1	164761816	164761819	GGC	G	PBX1	c.353_354del	NM_002585.4	NP_002576.1:p.(Ala118GlyfsTer3)	NC_000001.10:g.164761818_164761819del	(Likely) pathogenic	1 lab	e691be1d03
2:179431917 TTN A>G	2	179431917	179431917	A	G	TTN	c.78942T>C	NM_001267550.1	NP_001254479.1:p.(Asp26314=)	NC_000002.11:g.179431917A>G	(Likely) benign	1 lab	e6927d1052
11:113934155 ZBTB16 T>G	11	113934155	113934155	T	G	ZBTB16	c.133T>G	NM_006006.5	NP_005997.2:p.(Phe45Val)	NC_000011.9:g.113934155T>G	VUS	1 lab	e692968a59
12:994240 WNK1 A>G	12	994240	994240	A	G	WNK1	c.5050A>G	NM_001184985.1	NP_001171914.1:p.(Ile1684Val)	NC_000012.11:g.994240A>G	(Likely) benign	1 lab	e692d7be07
1:16458894 EPHA2 C>T	1	16458894	16458894	C	T	EPHA2	c.2094G>A	NM_004431.4	NP_004422.2:p.(Gly698=)	NC_000001.10:g.16458894C>T	(Likely) benign	1 lab	e69414fcb1
X:50213441 DGKK T>C	X	50213441	50213441	T	C	DGKK	c.237A>G	NM_001013742.3	NP_001013764.1:p.(Thr79=)	NC_000023.10:g.50213441T>C	(Likely) benign	1 lab	e69415e695
X:13753408 OFD1 A>G	X	13753408	13753408	A	G	OFD1	c.54A>G	NM_003611.2	NP_003602.1:p.(Glu18=)	NC_000023.10:g.13753408A>G	(Likely) benign	1 lab	e69433345b
14:53570472 DDHD1 T>C	14	53570472	53570472	T	C	DDHD1	c.941A>G	NM_001160148.1	NP_001153620.1:p.(Asn314Ser)	NC_000014.8:g.53570472T>C	(Likely) benign	1 lab	e698011ecf
19:12769162 MAN2B1 C>T	19	12769162	12769162	C	T	MAN2B1	c.1110-4G>A	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12769162C>T	(Likely) benign	1 lab	e698500148
1:196801013 CFHR1 G>A	1	196801013	196801013	G	A	CFHR1	c.877G>A	NM_002113.2	NP_002104.2:p.(Gly293Ser)	NC_000001.10:g.196801013G>A	(Likely) benign	1 lab	e69a25dbe6
16:2138106 TSC2 C>T	16	2138106	2138106	C	T	TSC2	c.5126C>T	NM_000548.3	NP_000539.2:p.(Pro1709Leu)	NC_000016.9:g.2138106C>T	(Likely) pathogenic	1 lab	e69b6f1a7e
X:149680307 MAMLD1 G>A	X	149680307	149680307	G	A	MAMLD1	c.1961G>A	NM_001177465.3	NP_001170936.1:p.(Arg654Gln)	NC_000023.10:g.149680307G>A	(Likely) benign	1 lab	e69be0323e
16:1494320 CCDC154 A>C	16	1494320	1494320	A	C	CCDC154	c.4T>G	NM_001143980.1	NP_001137452.1:p.(Ser2Ala)	NC_000016.9:g.1494320A>C	(Likely) benign	1 lab	e69d8273a8
12:102159967 GNPTAB C>T	12	102159967	102159967	C	T	GNPTAB	c.1514G>A	NM_024312.4	NP_077288.2:p.(Cys505Tyr)	NC_000012.11:g.102159967C>T	(Likely) pathogenic	1 lab	e69f039b7a
4:2242004 HAUS3 G>C	4	2242004	2242004	G	C	HAUS3	c.670C>G	NM_001303143.1	NP_001290072.1:p.(Gln224Glu)	NC_000004.11:g.2242004G>C	VUS	1 lab	e6a230d03b
12:57500603 STAT6 C>T	12	57500603	57500603	C	T	STAT6	c.351G>A	NM_001178078.1	NP_001171549.1:p.(Leu117=)	NC_000012.11:g.57500603C>T	(Likely) benign	1 lab	e6a3327906
15:28269998 OCA2 A>G	15	28269998	28269998	A	G	OCA2	c.566T>C	NM_000275.2	NP_000266.2:p.(Leu189Pro)	NC_000015.9:g.28269998A>G	VUS	1 lab	e6a4b66c79
X:57474958 FAAH2 A>T	X	57474958	57474958	A	T	FAAH2	c.1230A>T	NM_174912.3	NP_777572.2:p.(Gly410=)	NC_000023.10:g.57474958A>T	(Likely) benign	1 lab	e6a50560f1
7:92123935 PEX1 G>T	7	92123935	92123935	G	T	PEX1				NC_000007.13:g.92123935G>T	VUS	1 lab	205a96c944
X:102192267 RAB40AL C>G	X	102192267	102192267	C	G	RAB40AL	c.21C>G	NM_001031834.1	NP_001027004.1:p.(Pro7=)	NC_000023.10:g.102192267C>G	(Likely) benign	1 lab	e6a61a0419
2:179577978 TTN ATGG>A	2	179577978	179577981	ATGG	A	TTN	c.26880_26882del	NM_001267550.2	NP_001254479.2:p.(His8961del)	NC_000002.11:g.179577979_179577981del	VUS	1 lab	e6a69948df
18:28666553 DSC2 G>C	18	28666553	28666553	G	C	DSC2	c.928C>G	NM_024422.4	NP_077740.1:p.(Gln310Glu)	NC_000018.9:g.28666553G>C	(Likely) benign	1 lab	e6a903a2cb
1:224588772 WDR26 C>T	1	224588772	224588772	C	T	WDR26	c.1300-1G>A	NM_025160.6	NP_079436.4:p.?	NC_000001.10:g.224588772C>T	(Likely) pathogenic	1 lab	e6aa5f71da
21:34927209 SON G>A	21	34927209	34927209	G	A	SON	c.5672G>A	NM_138927.2	NP_620305.2:p.(Arg1891His)	NC_000021.8:g.34927209G>A	VUS	1 lab	e6ac01ab4e
2:179459288 TTN A>G	2	179459288	179459288	A	G	TTN	c.57933T>C	NM_001267550.1	NP_001254479.1:p.(Asp19311=)	NC_000002.11:g.179459288A>G	(Likely) benign	1 lab	e6acf6c3bf
X:50147175 DGKK G>T	X	50147175	50147175	G	T	DGKK	c.950C>A	NM_001013742.3	NP_001013764.1:p.(Ala317Glu)	NC_000023.10:g.50147175G>T	VUS	1 lab	e6adca0a3c
1:223567812 CCDC185 G>A	1	223567812	223567812	G	A	CCDC185	c.995G>A	NM_152610.2	NP_689823.2:p.(Arg332Gln)	NC_000001.10:g.223567812G>A	(Likely) benign	1 lab	e6b06911c2
12:10217422 CLEC9A G>A	12	10217422	10217422	G	A	CLEC9A	c.563G>A	NM_207345.4	NP_997228.1:p.(Trp188Ter)	NC_000012.11:g.10217422G>A	VUS	1 lab	e6b48982b0
X:48547397 WAS C>T	X	48547397	48547397	C	T	WAS	c.1280C>T	NM_000377.2	NP_000368.1:p.(Pro427Leu)	NC_000023.10:g.48547397C>T	(Likely) benign	1 lab	e6b57102e5
15:101718826 CHSY1 G>C	15	101718826	101718826	G	C	CHSY1	c.1176C>G	NM_014918.4	NP_055733.2:p.(Pro392=)	NC_000015.9:g.101718826G>C	(Likely) benign	1 lab	e6b5bf08df
6:152655404 SYNE1 A>C	6	152655404	152655404	A	C	SYNE1	c.12533T>G	NM_182961.3	NP_892006.3:p.(Phe4178Cys)	NC_000006.11:g.152655404A>C	VUS	1 lab	e6b6153fa4
14:24709075 TINF2 G>A	14	24709075	24709075	G	A	TINF2	c.1284C>T	NM_001099274.1	NP_001092744.1:p.(Tyr428=)	NC_000014.8:g.24709075G>A	(Likely) benign	1 lab	e6b6231307
X:70621419 TAF1 T>G	X	70621419	70621419	T	G	TAF1	c.3888T>G	NM_001286074.1	NP_001273003.1:p.(Thr1296=)	NC_000023.10:g.70621419T>G	(Likely) benign	1 lab	e6b6fd8756
22:43280532 PACSIN2 G>A	22	43280532	43280532	G	A	PACSIN2	c.645C>T	NM_001349968.1	NP_001336897.1:p.(Leu215=)	NC_000022.10:g.43280532G>A	(Likely) benign	1 lab	e6b99c0244
1:33354777 HPCA C>T	1	33354777	33354777	C	T	HPCA	c.278C>T	NM_002143.2	NP_002134.2:p.(Ser93Leu)	NC_000001.10:g.33354777C>T	VUS	1 lab	e6bb02746a
2:179456501 TTN T>G	2	179456501	179456501	T	G	TTN	c.60045A>C	NM_001267550.1	NP_001254479.1:p.(Glu20015Asp)	NC_000002.11:g.179456501T>G	VUS	1 lab	e6bd777ee1
12:80927818 MISSING T>C	12	80927818	80927818	T	C	MISSING				NC_000012.11:g.80927818T>C	(Likely) benign	1 lab	e6bed61edb
16:1257409 CACNA1H C>T	16	1257409	1257409	C	T	CACNA1H	c.3042C>T	NM_021098.2	NP_066921.2:p.(Leu1014=)	NC_000016.9:g.1257409C>T	(Likely) benign	1 lab	e6bfe2a125
6:43487122 POLR1C A>G	6	43487122	43487122	A	G	POLR1C	c.193A>G	NM_001363658.1	NP_001350587.1:p.(Met65Val)	NC_000006.11:g.43487122A>G	VUS	1 lab	e6c0b1c77e
19:12984762 MAST1 T>G	19	12984762	12984762	T	G	MAST1	c.3791T>G	NM_014975.2	NP_055790.1:p.(Val1264Gly)	NC_000019.9:g.12984762T>G	VUS	1 lab	e6c14c5ca0
13:103518225 ERCC5 G>A	13	103518225	103518225	G	A	ERCC5	c.2163G>A	NM_000123.3	NP_000114.2:p.(Ala721=)	NC_000013.10:g.103518225G>A	(Likely) benign	1 lab	e6c411e7bb
X:21675110 KLHL34 G>A	X	21675110	21675110	G	A	KLHL34	c.797C>T	NM_153270.2	NP_695002.1:p.(Pro266Leu)	NC_000023.10:g.21675110G>A	VUS	1 lab	e6c4311848
18:57026451 LMAN1 A>G	18	57026451	57026451	A	G	LMAN1	c.26T>C	NM_005570.3	NP_005561.1:p.(Leu9Pro)	NC_000018.9:g.57026451A>G	(Likely) benign	1 lab	e6c6a9368b
12:657190 B4GALNT3 C>T	12	657190	657190	C	T	B4GALNT3	c.708C>T	NM_173593.3	NP_775864.3:p.(Ser236=)	NC_000012.11:g.657190C>T	(Likely) benign	1 lab	e6c74386c5
19:16601411 CALR3 A>T	19	16601411	16601411	A	T	CALR3	c.194-30T>A	NM_145046.4	NP_659483.2:p.?	NC_000019.9:g.16601411A>T	(Likely) benign	1 lab	e6c7de23c4
3:47452575 PTPN23 C>T	3	47452575	47452575	C	T	PTPN23	c.3287C>T	NM_015466.3	NP_056281.1:p.(Pro1096Leu)	NC_000003.11:g.47452575C>T	(Likely) benign	1 lab	e6c8411c30
7:19156502 TWIST1 G>T	7	19156502	19156502	G	T	TWIST1	c.443C>A	NM_000474.3	NP_000465.1:p.(Thr148Asn)	NC_000007.13:g.19156502G>T	(Likely) pathogenic	1 lab	e6c95e9bf8
22:37257241 NCF4 G>A	22	37257241	37257241	G	A	NCF4	c.28G>A	NM_013416.3	NP_038202.2:p.(Glu10Lys)	NC_000022.10:g.37257241G>A	VUS	1 lab	e6cc37e63d
2:43768341 THADA T>A	2	43768341	43768341	T	A	THADA	c.3221A>T	NM_001083953.1	NP_001077422.1:p.(Gln1074Leu)	NC_000002.11:g.43768341T>A	(Likely) benign	1 lab	e6cce40bc8
11:118917160 HYOU1 C>T	11	118917160	118917160	C	T	HYOU1	c.2856G>A	NM_006389.5	NP_006380.1:p.(Glu952=)	NC_000011.9:g.118917160C>T	(Likely) benign	1 lab	e6d13cf753
4:178355668 AGA C>G	4	178355668	178355668	C	G	AGA	c.699-25G>C	NM_000027.3	NP_000018.2:p.?	NC_000004.11:g.178355668C>G	(Likely) benign	1 lab	e6d173c284
2:228564041 SLC19A3 C>A	2	228564041	228564041	C	A	SLC19A3	c.390G>T	NM_025243.3	NP_079519.1:p.(Val130=)	NC_000002.11:g.228564041C>A	(Likely) benign	1 lab	e6d1e321f0
10:24874482 ARHGAP21 T>C	10	24874482	24874482	T	C	ARHGAP21	c.4442A>G	NM_001367450.1	NP_001354379.1:p.(Asn1481Ser)	NC_000010.10:g.24874482T>C	(Likely) benign	1 lab	e6d4275e6d
12:49424172 KMT2D T>G	12	49424172	49424172	T	G	KMT2D	c.13890A>C	NM_003482.3	NP_003473.3:p.(Pro4630=)	NC_000012.11:g.49424172T>G	(Likely) benign	1 lab	e6d5362fcb
18:42281472 SETBP1 G>A	18	42281472	42281472	G	A	SETBP1	c.161G>A	NM_015559.3	NP_056374.2:p.(Arg54His)	NC_000018.9:g.42281472G>A	(Likely) benign	1 lab	e6d5505a87
16:88878225 APRT C>T	16	88878225	88878225	C	T	APRT	c.80+3G>A	NM_000485.2	NP_000476.1:p.?	NC_000016.9:g.88878225C>T	VUS	1 lab	e6d55dabf4
14:45665702 FANCM A>G	14	45665702	45665702	A	G	FANCM	c.5668A>G	NM_020937.2	NP_065988.1:p.(Met1890Val)	NC_000014.8:g.45665702A>G	VUS	1 lab	e6d666d68e
11:27390548 LGR4 T>C	11	27390548	27390548	T	C	LGR4	c.1722A>G	NM_018490.3	NP_060960.2:p.(Lys574=)	NC_000011.9:g.27390548T>C	(Likely) benign	1 lab	e6d67dbb8a
9:138676732 KCNT1 G>A	9	138676732	138676732	G	A	KCNT1	c.3153G>A	NM_020822.2	NP_065873.2:p.(Ser1051=)	NC_000009.11:g.138676732G>A	VUS	1 lab	e6d7b15731
2:97427517 CNNM4 C>T	2	97427517	97427517	C	T	CNNM4	c.781C>T	NM_020184.3	NP_064569.3:p.(Leu261=)	NC_000002.11:g.97427517C>T	(Likely) benign	1 lab	e6d86f8861
11:2906687 CDKN1C C>A	11	2906687	2906687	C	A	CDKN1C	c.33G>T	NM_000076.2	NP_000067.1:p.(Thr11=)	NC_000011.9:g.2906687C>A	(Likely) benign	1 lab	e6d87af955
21:37833469 CLDN14 G>A	21	37833469	37833469	G	A	CLDN14	c.525C>T	NM_144492.2	NP_652763.1:p.(Leu175=)	NC_000021.8:g.37833469G>A	(Likely) benign	1 lab	e6db9fa0f0
2:149855009 KIF5C T>A	2	149855009	149855009	T	A	KIF5C	c.2196T>A	NM_004522.3	NP_004513.1:p.(Ile732=)	NC_000002.11:g.149855009T>A	(Likely) benign	1 lab	e6dba230ed
2:15496525 NBAS T>C	2	15496525	15496525	T	C	NBAS	c.3833A>G	NM_015909.3	NP_056993.2:p.(Glu1278Gly)	NC_000002.11:g.15496525T>C	VUS	1 lab	e6dbc318ab
14:95570304 DICER1 TAG>T	14	95570304	95570310	TAG	T	DICER1	c.3427_3428del	NM_177438.3	NP_803187.1:p.(Leu1143ArgfsTer4)	NC_000014.8:g.95570309_95570310del	(Likely) pathogenic	1 lab	e6dca56fab
12:48372131 COL2A1 G>A	12	48372131	48372131	G	A	COL2A1	c.2946C>T	NM_001844.4	NP_001835.3:p.(Ile982=)	NC_000012.11:g.48372131G>A	(Likely) benign	1 lab	e6e01e429e
14:102470912 DYNC1H1 C>T	14	102470912	102470912	C	T	DYNC1H1	c.4941C>T	NM_001376.4	NP_001367.2:p.(Val1647=)	NC_000014.8:g.102470912C>T	(Likely) benign	1 lab	e6e0e69e94
1:181620545 MISSING T>C	1	181620545	181620545	T	C	MISSING				NC_000001.10:g.181620545T>C	(Likely) benign	1 lab	e6e0f7632c
17:6909233 ALOX12 G>C	17	6909233	6909233	G	C	ALOX12	c.1305G>C	NM_000697.3	NP_000688.2:p.(Gln435His)	NC_000017.10:g.6909233G>C	(Likely) benign	1 lab	e6e124819b
5:1294082 TERT G>T	5	1294082	1294082	G	T	TERT	c.919C>A	NM_198253.2	NP_937983.2:p.(Pro307Thr)	NC_000005.9:g.1294082G>T	(Likely) benign	1 lab	e6e1a5eb1e
4:110670647 CFI G>A	4	110670647	110670647	G	A	CFI	c.1068+8C>T	NM_001318057.1	NP_001304986.1:p.?	NC_000004.11:g.110670647G>A	(Likely) benign	1 lab	e6e1d6485a
10:103827009 HPS6 C>G	10	103827009	103827009	C	G	HPS6	c.1778C>G	NM_024747.5	NP_079023.2:p.(Pro593Arg)	NC_000010.10:g.103827009C>G	VUS	1 lab	e6e24a7e08
5:1878306 IRX4 G>C	5	1878306	1878306	G	C	IRX4	c.1415C>G	NM_001278635.1	NP_001265564.1:p.(Pro472Arg)	NC_000005.9:g.1878306G>C	VUS	1 lab	e6e27663fd
16:1270426 CACNA1H C>G	16	1270426	1270426	C	G	CACNA1H	c.6494C>G	NM_021098.2	NP_066921.2:p.(Pro2165Arg)	NC_000016.9:g.1270426C>G	(Likely) benign	1 lab	e6e6e6c1f3
11:62402420 GANAB C>T	11	62402420	62402420	C	T	GANAB	c.142G>A	NM_001329222.1	NP_001316151.1:p.(Gly48Arg)	NC_000011.9:g.62402420C>T	(Likely) benign	1 lab	e6e7217fb8
15:25584437 UBE3A AC>A	15	25584437	25584438	AC	A	UBE3A	c.2499-34del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25584438del	(Likely) benign	1 lab	e6e8d2558d
13:23909037 SACS A>G	13	23909037	23909037	A	G	SACS				NC_000013.10:g.23909037A>G	VUS	1 lab	1f35b534ae
16:49672409 ZNF423 G>A	16	49672409	49672409	G	A	ZNF423	c.474C>T	NM_001271620.2	NP_001258549.1:p.(Ser158=)	NC_000016.9:g.49672409G>A	(Likely) benign	1 lab	e6e91bec31
12:113386963 OAS3 C>T	12	113386963	113386963	C	T	OAS3	c.1327C>T	NM_006187.4	NP_006178.2:p.(Arg443Cys)	NC_000012.11:g.113386963C>T	(Likely) benign	1 lab	e6e98bc5a3
22:27019218 CRYBA4 C>T	22	27019218	27019218	C	T	CRYBA4	c.60C>T	NM_001886.2	NP_001877.1:p.(Asp20=)	NC_000022.10:g.27019218C>T	(Likely) benign	1 lab	e6ea43f5e6
16:3786717 CREBBP T>C	16	3786717	3786717	T	C	CREBBP	c.4494A>G	NM_004380.2	NP_004371.2:p.(Arg1498=)	NC_000016.9:g.3786717T>C	(Likely) benign	1 lab	e6ebfcc9bb
16:14540909 PARN C>T	16	14540909	14540909	C	T	PARN	c.1700G>A	NM_002582.4	NP_002573.1:p.(Arg567Lys)	NC_000016.9:g.14540909C>T	(Likely) benign	1 lab	e6ec4a953c
11:62381104 ROM1 C>T	11	62381104	62381104	C	T	ROM1	c.351C>T	NM_000327.3	NP_000318.1:p.(Val117=)	NC_000011.9:g.62381104C>T	(Likely) benign	1 lab	e6ee3f4acb
6:88226555 RARS2 TG>T	6	88226555	88226558	TG	T	RARS2	c.1554del	NM_020320.5	NP_064716.2:p.(Arg519GlyfsTer8)	NC_000006.11:g.88226558del	(Likely) pathogenic	1 lab	e6ee9f3907
9:135778143 TSC1 A>G	9	135778143	135778143	A	G	TSC1	c.2240T>C	NM_000368.4	NP_000359.1:p.(Ile747Thr)	NC_000009.11:g.135778143A>G	(Likely) benign	1 lab	e6ef5d0af9
2:170115592 LRP2 C>T	2	170115592	170115592	C	T	LRP2	c.2456G>A	NM_004525.3	NP_004516.2:p.(Arg819His)	NC_000002.11:g.170115592C>T	(Likely) benign	1 lab	e6eff4707f
3:49059789 NDUFAF3 C>G	3	49059789	49059789	C	G	NDUFAF3	c.88C>G	NM_199069.1	NP_951032.1:p.(Arg30Gly)	NC_000003.11:g.49059789C>G	VUS	1 lab	e6f0475a25
6:84290192 SNAP91 G>A	6	84290192	84290192	G	A	SNAP91	c.2003C>T	NM_001256717.1	NP_001243646.1:p.(Ser668Leu)	NC_000006.11:g.84290192G>A	VUS	1 lab	e6f47a4ff9
1:32714017 FAM167B C>A	1	32714017	32714017	C	A	FAM167B	c.307C>A	NM_032648.3	NP_116037.2:p.(Arg103=)	NC_000001.10:g.32714017C>A	(Likely) benign	1 lab	e6f4d48438
X:101969814 GPRASP2 T>C	X	101969814	101969814	T	C	GPRASP2	c.17T>C	NM_001184874.2	NP_001171803.1:p.(Ile6Thr)	NC_000023.10:g.101969814T>C	VUS	1 lab	e6f678f844
15:28380836 HERC2 C>T	15	28380836	28380836	C	T	HERC2	c.12018G>A	NM_004667.5	NP_004658.3:p.(Leu4006=)	NC_000015.9:g.28380836C>T	(Likely) benign	1 lab	e6f6df21df
2:168107259 XIRP2 G>A	2	168107259	168107259	G	A	XIRP2	c.9357G>A	NM_152381.5	NP_689594.4:p.(Pro3119=)	NC_000002.11:g.168107259G>A	(Likely) benign	1 lab	e6f6f12e8d
19:7694741 PET100 TTTCGGGTCA>T	19	7694741	7694750	TTTCGGGTCA	T	PET100	c.23_27+4del	NM_001171155.2	NP_001164626.1:p.?	NC_000019.9:g.7694742_7694750del	VUS	1 lab	e6f9183f0a
2:176959556 HOXD13 CT>C	2	176959556	176959557	CT	C	HOXD13	c.*99del	NM_000523.4	NP_000514.2:p.?	NC_000002.11:g.176959557del	VUS	1 lab	e6fb701ad4
1:100908545 CDC14A A>T	1	100908545	100908545	A	T	CDC14A	c.512A>T	NM_001319210.1	NP_001306139.1:p.(His171Leu)	NC_000001.10:g.100908545A>T	VUS	1 lab	e6fcabc9e0
X:50052222 CCNB3 C>A	X	50052222	50052222	C	A	CCNB3	c.1053C>A	NM_033031.2	NP_149020.2:p.(Ala351=)	NC_000023.10:g.50052222C>A	(Likely) benign	1 lab	e6fd5aa0f9
17:7246859 ACAP1 G>A	17	7246859	7246859	G	A	ACAP1	c.506G>A	NM_014716.4	NP_055531.1:p.(Arg169Gln)	NC_000017.10:g.7246859G>A	(Likely) benign	1 lab	e6fd7f925e
7:92762554 SAMD9L C>T	7	92762554	92762554	C	T	SAMD9L	c.2731G>A	NM_152703.4	NP_689916.2:p.(Gly911Arg)	NC_000007.13:g.92762554C>T	VUS	1 lab	e6fe4757ea
13:72440535 DACH1 T>C	13	72440535	72440535	T	C	DACH1	c.367A>G	NM_080759.5	NP_542937.3:p.(Ser123Gly)	NC_000013.10:g.72440535T>C	(Likely) benign	1 lab	e6ff1ceae7
2:201750459 PPIL3 T>A	2	201750459	201750459	T	A	PPIL3	c.40A>T	NM_032472.3	NP_115861.1:p.(Ile14Phe)	NC_000002.11:g.201750459T>A	VUS	1 lab	e6ff610ca8
20:31384658 DNMT3B C>T	20	31384658	31384658	C	T	DNMT3B	c.1360C>T	NM_006892.3	NP_008823.1:p.(Leu454Phe)	NC_000020.10:g.31384658C>T	VUS	1 lab	e700314c93
20:60888741 LAMA5 G>A	20	60888741	60888741	G	A	LAMA5	c.8622C>T	NM_005560.4	NP_005551.3:p.(Phe2874=)	NC_000020.10:g.60888741G>A	(Likely) benign	1 lab	e7028fbb5f
1:12342782 VPS13D A>G	1	12342782	12342782	A	G	VPS13D	c.4623A>G	NM_015378.4	NP_056193.2:p.(Val1541=)	NC_000001.10:g.12342782A>G	(Likely) benign	1 lab	e70313b04d
X:12906343 TLR7 G>A	X	12906343	12906343	G	A	TLR7	c.2716G>A	NM_016562.3	NP_057646.1:p.(Glu906Lys)	NC_000023.10:g.12906343G>A	VUS	1 lab	e7033f7bdf
13:48528644 SUCLA2 C>T	13	48528644	48528644	C	T	SUCLA2	c.851G>A	NM_003850.2	NP_003841.1:p.(Arg284His)	NC_000013.10:g.48528644C>T	VUS	1 lab	e7039d9aa3
16:14676099 PARN G>A	16	14676099	14676099	G	A	PARN	c.1131C>T	NM_002582.4	NP_002573.1:p.(His377=)	NC_000016.9:g.14676099G>A	(Likely) benign	1 lab	e70430162a
11:119215111 MFRP G>T	11	119215111	119215111	G	T	MFRP	c.899-10C>A	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119215111G>T	(Likely) benign	1 lab	e7048e41c7
4:72412181 SLC4A4 G>A	4	72412181	72412181	G	A	SLC4A4	c.2557G>A	NM_001098484.2	NP_001091954.1:p.(Asp853Asn)	NC_000004.11:g.72412181G>A	VUS	1 lab	e7067f3184
6:38690886 DNAH8 C>T	6	38690886	38690886	C	T	DNAH8	c.301C>T	NM_001206927.1	NP_001193856.1:p.(Leu101=)	NC_000006.11:g.38690886C>T	(Likely) benign	1 lab	e7070477cf
9:140136235 TUBB4B C>T	9	140136235	140136235	C	T	TUBB4B	c.120C>T	NM_006088.6	NP_006079.1:p.(Ser40=)	NC_000009.11:g.140136235C>T	(Likely) benign	1 lab	e7078927b5
8:94772105 TMEM67 G>T	8	94772105	94772105	G	T	TMEM67	c.47G>T	NM_001142301.1	NP_001135773.1:p.(Arg16Leu)	NC_000008.10:g.94772105G>T	(Likely) benign	1 lab	e70849e61d
7:73455537 ELN T>C	7	73455537	73455537	T	C	ELN	c.197-9T>C	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73455537T>C	(Likely) benign	1 lab	e709a68628
2:238434379 MLPH G>A	2	238434379	238434379	G	A	MLPH	c.811G>A	NM_024101.5	NP_077006.1:p.(Gly271Ser)	NC_000002.11:g.238434379G>A	(Likely) benign	1 lab	e70a2a01ad
12:6058235 VWF A>C	12	6058235	6058235	A	C	VWF	c.8388T>G	NM_000552.3	NP_000543.2:p.(His2796Gln)	NC_000012.11:g.6058235A>C	VUS	1 lab	e70a974403
X:47307591 ZNF41 A>T	X	47307591	47307591	A	T	ZNF41	c.1578T>A	NM_007130.3	NP_009061.1:p.(Ala526=)	NC_000023.10:g.47307591A>T	(Likely) benign	1 lab	e70c6f77d5
10:26305786 MYO3A G>T	10	26305786	26305786	G	T	MYO3A	c.546G>T	NM_017433.5	NP_059129.3:p.(Arg182=)	NC_000010.10:g.26305786G>T	(Likely) benign	1 lab	e70d9b756a
6:56918829 KIAA1586 C>T	6	56918829	56918829	C	T	KIAA1586	c.1331C>T	NM_001286275.1	NP_001273204.1:p.(Ser444Phe)	NC_000006.11:g.56918829C>T	VUS	1 lab	e70eecd930
17:29550494 NF1 T>A	17	29550494	29550494	T	A	NF1	c.1754T>A	NM_000267.3	NP_000258.1:p.(Leu585Ter)	NC_000017.10:g.29550494T>A	(Likely) pathogenic	1 lab	e710cb9100
12:80839313 MISSING C>G	12	80839313	80839313	C	G	MISSING				NC_000012.11:g.80839313C>G	(Likely) benign	1 lab	e710e48c75
22:38529009 PLA2G6 C>T	22	38529009	38529009	C	T	PLA2G6	c.906G>A	NM_003560.2	NP_003551.2:p.(Met302Ile)	NC_000022.10:g.38529009C>T	VUS	1 lab	e71122595c
X:128723809 OCRL T>G	X	128723809	128723809	T	G	OCRL	c.2470-13T>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128723809T>G	VUS	1 lab	e71402becc
X:134185997 RTL8A T>C	X	134185997	134185997	T	C	RTL8A	c.142A>G	NM_001078172.1	NP_001071640.1:p.(Ser48Gly)	NC_000023.10:g.134185997T>C	(Likely) benign	1 lab	e714325f9c
7:75614999 POR G>A	7	75614999	75614999	G	A	POR	c.1501G>A	NM_000941.2	NP_000932.3:p.(Glu501Lys)	NC_000007.13:g.75614999G>A	(Likely) benign	1 lab	e714b2047e
11:103062936 DYNC2H1 A>G	11	103062936	103062936	A	G	DYNC2H1	c.7651A>G	NM_001080463.1	NP_001073932.1:p.(Ile2551Val)	NC_000011.9:g.103062936A>G	(Likely) benign	1 lab	e714c744d1
5:150847355 SLC36A1 A>G	5	150847355	150847355	A	G	SLC36A1	c.592A>G	NM_078483.4	NP_510968.2:p.(Met198Val)	NC_000005.9:g.150847355A>G	(Likely) benign	1 lab	e715e0e85d
7:87038596 ABCB4 T>G	7	87038596	87038596	T	G	ABCB4	c.3037A>C	NM_018849.2	NP_061337.1:p.(Arg1013=)	NC_000007.13:g.87038596T>G	(Likely) benign	1 lab	e7166a117b
12:40749947 LRRK2 C>T	12	40749947	40749947	C	T	LRRK2	c.6801C>T	NM_198578.3	NP_940980.3:p.(Thr2267=)	NC_000012.11:g.40749947C>T	(Likely) benign	1 lab	e717b81d33
9:140707535 EHMT1 A>G	9	140707535	140707535	A	G	EHMT1	c.2945A>G	NM_024757.4	NP_079033.4:p.(Asn982Ser)	NC_000009.11:g.140707535A>G	VUS	1 lab	e719d2e514
3:193361885 OPA1 T>C	3	193361885	193361885	T	C	OPA1	c.1599T>C	NM_130837.2	NP_570850.2:p.(Ser533=)	NC_000003.11:g.193361885T>C	(Likely) benign	1 lab	e71a02e738
17:7727161 DNAH2 A>G	17	7727161	7727161	A	G	DNAH2	c.11339A>G	NM_020877.3	NP_065928.2:p.(Glu3780Gly)	NC_000017.10:g.7727161A>G	VUS	1 lab	e71a533b2f
12:21998560 ABCC9 T>C	12	21998560	21998560	T	C	ABCC9	c.3073A>G	NM_020297.2	NP_064693.2:p.(Asn1025Asp)	NC_000012.11:g.21998560T>C	VUS	1 lab	e71ae4b18d
12:15834239 EPS8 G>GTAATAATAATAA	12	15834239	15834271	G	GTAATAATAATAA	EPS8	c.60-15_60-4dup	NM_004447.5	NP_004438.3:p.?	NC_000012.11:g.15834260_15834271dup	(Likely) benign	1 lab	e71b5a7629
17:1840005 RTN4RL1 C>T	17	1840005	1840005	C	T	RTN4RL1	c.1111G>A	NM_178568.4	NP_848663.1:p.(Gly371Arg)	NC_000017.10:g.1840005C>T	(Likely) benign	1 lab	e71eb7f86a
X:119668330 CUL4B A>G	X	119668330	119668330	A	G	CUL4B	c.2320+6T>C	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119668330A>G	VUS	1 lab	e71f4cf3b2
3:178917595 PIK3CA A>G	3	178917595	178917595	A	G	PIK3CA	c.470A>G	NM_006218.2	NP_006209.2:p.(Asn157Ser)	NC_000003.11:g.178917595A>G	(Likely) benign	1 lab	e71f5d03da
8:10465042 RP1L1 G>C	8	10465042	10465042	G	C	RP1L1	c.6566C>G	NM_178857.5	NP_849188.4:p.(Ala2189Gly)	NC_000008.10:g.10465042G>C	(Likely) benign	1 lab	e72058f756
18:21123419 NPC1 C>T	18	21123419	21123419	C	T	NPC1	c.2245G>A	NM_000271.4	NP_000262.2:p.(Gly749Arg)	NC_000018.9:g.21123419C>T	VUS	1 lab	e7218424f9
19:23328897 ZNF730 C>T	19	23328897	23328897	C	T	ZNF730	c.1051C>T	NM_001277403.2	NP_001264332.1:p.(Arg351Ter)	NC_000019.9:g.23328897C>T	VUS	1 lab	e721ad1d05
16:14345730 MISSING C>G	16	14345730	14345730	C	G	MISSING				NC_000016.9:g.14345730C>G	VUS	1 lab	e721ca521d
8:126075842 WASHC5 T>C	8	126075842	126075842	T	C	WASHC5	c.1330A>G	NM_014846.3	NP_055661.3:p.(Lys444Glu)	NC_000008.10:g.126075842T>C	(Likely) benign	1 lab	e7227770c1
8:61778006 CHD7 G>A	8	61778006	61778006	G	A	CHD7				NC_000008.10:g.61778006G>A	(Likely) benign	1 lab	e7244a51f2
1:226110088 PYCR2 AAG>A	1	226110088	226110092	AAG	A	PYCR2	c.139-7_139-6del	NM_013328.4	NP_037460.2:p.?	NC_000001.10:g.226110091_226110092del	(Likely) benign	1 lab	e724605015
4:1827352 LETM1 C>T	4	1827352	1827352	C	T	LETM1	c.1139G>A	NM_012318.2	NP_036450.1:p.(Arg380Gln)	NC_000004.11:g.1827352C>T	VUS	1 lab	e724eb3fc8
19:3978159 EEF2 C>T	19	3978159	3978159	C	T	EEF2	c.1725G>A	NM_001961.3	NP_001952.1:p.(Pro575=)	NC_000019.9:g.3978159C>T	(Likely) benign	1 lab	e7275d02e0
17:29653256 NF1 A>T	17	29653256	29653256	A	T	NF1	c.5191A>T	NM_000267.3	NP_000258.1:p.(Lys1731Ter)	NC_000017.10:g.29653256A>T	(Likely) pathogenic	1 lab	e7275e7502
16:747384 FBXL16 C>T	16	747384	747384	C	T	FBXL16	c.22G>A	NM_153350.4	NP_699181.2:p.(Gly8Ser)	NC_000016.9:g.747384C>T	(Likely) benign	1 lab	e728e1e647
8:119122606 EXT1 CG>C	8	119122606	119122608	CG	C	EXT1	c.679del	NM_000127.3	NP_000118.2:p.(Arg227AspfsTer25)	NC_000008.10:g.119122608del	(Likely) pathogenic	1 lab	e72dfc12dc
9:135787716 TSC1 G>C	9	135787716	135787716	G	C	TSC1	c.866C>G	NM_000368.4	NP_000359.1:p.(Ser289Ter)	NC_000009.11:g.135787716G>C	(Likely) pathogenic	1 lab	e72f4c4b51
11:64387776 NRXN2 C>G	11	64387776	64387776	C	G	NRXN2	c.4242G>C	NM_015080.3	NP_055895.1:p.(Glu1414Asp)	NC_000011.9:g.64387776C>G	VUS	1 lab	e72fe1803d
X:108635180 GUCY2F G>A	X	108635180	108635180	G	A	GUCY2F	c.2741C>T	NM_001522.2	NP_001513.2:p.(Thr914Ile)	NC_000023.10:g.108635180G>A	VUS	1 lab	e7308bcbf5
1:109441298 GPSM2 C>T	1	109441298	109441298	C	T	GPSM2	c.592C>T	NM_013296.5	NP_037428.3:p.(Arg198Ter)	NC_000001.10:g.109441298C>T	(Likely) pathogenic	1 lab	e730c6613a
3:195965703 PCYT1A G>A	3	195965703	195965703	G	A	PCYT1A	c.960C>T	NM_005017.3	NP_005008.2:p.(Pro320=)	NC_000003.11:g.195965703G>A	(Likely) benign	1 lab	e7331aeb81
2:26068164 ASXL2 T>C	2	26068164	26068164	T	C	ASXL2	c.141-2A>G	NM_018263.5	NP_060733.4:p.?	NC_000002.11:g.26068164T>C	(Likely) benign	1 lab	e7344e1734
17:42153173 G6PC3 CCTG>C	17	42153173	42153178	CCTG	C	G6PC3	c.806_808del	NM_138387.4	NP_612396.1:p.(Cys269del)	NC_000017.10:g.42153176_42153178del	VUS	1 lab	e735006a82
2:148715929 ORC4 T>C	2	148715929	148715929	T	C	ORC4	c.325A>G	NM_001190879.2	NP_001177808.1:p.(Ile109Val)	NC_000002.11:g.148715929T>C	(Likely) benign	1 lab	e7357eb50c
1:41304041 KCNQ4 G>T	1	41304041	41304041	G	T	KCNQ4	c.1934G>T	NM_004700.3	NP_004691.2:p.(Arg645Leu)	NC_000001.10:g.41304041G>T	VUS	1 lab	e736effc6e
21:38858771 DYRK1A T>C	21	38858771	38858771	T	C	DYRK1A	c.492T>C	NM_001347721.2	NP_001334650.1:p.(Val164=)	NC_000021.8:g.38858771T>C	(Likely) benign	1 lab	e73763d56d
3:123451897 MYLK C>T	3	123451897	123451897	C	T	MYLK	c.1362G>A	NM_053025.3	NP_444253.3:p.(Val454=)	NC_000003.11:g.123451897C>T	(Likely) benign	1 lab	e73949da60
7:150217768 GIMAP7 GA>G	7	150217768	150217770	GA	G	GIMAP7	c.708del	NM_153236.4	NP_694968.1:p.(Glu237ArgfsTer17)	NC_000007.13:g.150217770del	VUS	1 lab	e739593da7
3:48698541 CELSR3 A>G	3	48698541	48698541	A	G	CELSR3	c.1527T>C	NM_001407.2	NP_001398.2:p.(Tyr509=)	NC_000003.11:g.48698541A>G	(Likely) benign	1 lab	e739e56c36
X:70356746 MED12 G>A	X	70356746	70356746	G	A	MED12	c.5418G>A	NM_005120.2	NP_005111.2:p.(Pro1806=)	NC_000023.10:g.70356746G>A	VUS	1 lab	e73ac79ed7
X:153695720 PLXNA3 G>T	X	153695720	153695720	G	T	PLXNA3	c.3347G>T	NM_017514.4	NP_059984.3:p.(Arg1116Leu)	NC_000023.10:g.153695720G>T	(Likely) benign	1 lab	e73b51906b
11:47357551 MYBPC3 C>A	11	47357551	47357551	C	A	MYBPC3	c.2614G>T	NM_000256.3	NP_000247.2:p.(Glu872Ter)	NC_000011.9:g.47357551C>A	(Likely) pathogenic	1 lab	e73ca5f894
13:44455233 LACC1 A>G	13	44455233	44455233	A	G	LACC1	c.112A>G	NM_001350641.1	NP_001337570.1:p.(Lys38Glu)	NC_000013.10:g.44455233A>G	(Likely) benign	1 lab	e73f3eee72
5:149460417 CSF1R C>T	5	149460417	149460417	C	T	CSF1R	c.220G>A	NM_005211.3	NP_005202.2:p.(Ala74Thr)	NC_000005.9:g.149460417C>T	(Likely) benign	1 lab	e7434ee4be
22:38536032 PLA2G6 T>TG	22	38536032	38536036	T	TG	PLA2G6	c.219dup	NM_001349867.1	NP_001336796.1:p.(Asn74GlnfsTer130)	NC_000022.10:g.38536036dup	(Likely) pathogenic	1 lab	e743e2b41a
8:95892389 INTS8 AAGAAGTGTT>A	8	95892389	95892399	AAGAAGTGTT	A	INTS8	c.2917_2925del	NM_017864.4	NP_060334.2:p.(Glu973_Leu975del)	NC_000008.10:g.95892391_95892399del	VUS	1 lab	e7441e9ec4
19:41354209 CYP2A6 C>A	19	41354209	41354209	C	A	CYP2A6	c.569G>T	NM_000762.5	NP_000753.3:p.(Arg190Leu)	NC_000019.9:g.41354209C>A	(Likely) benign	1 lab	e7445f1d87
13:110826346 COL4A1 C>T	13	110826346	110826346	C	T	COL4A1	c.3407-1G>A	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110826346C>T	VUS	1 lab	e746675218
11:117262984 CEP164 C>T	11	117262984	117262984	C	T	CEP164	c.2326C>T	NM_014956.4	NP_055771.4:p.(Arg776Trp)	NC_000011.9:g.117262984C>T	VUS	1 lab	e74689a142
11:1016448 MUC6 G>A	11	1016448	1016448	G	A	MUC6	c.6353C>T	NM_005961.2	NP_005952.2:p.(Thr2118Ile)	NC_000011.9:g.1016448G>A	(Likely) benign	1 lab	e746c6c502
17:74276117 QRICH2 C>T	17	74276117	74276117	C	T	QRICH2	c.4247G>A	NM_032134.2	NP_115510.1:p.(Arg1416Gln)	NC_000017.10:g.74276117C>T	VUS	1 lab	e747bf4611
17:29663724 NF1 T>TA	17	29663724	29663725	T	TA	NF1	c.6157dup	NM_000267.3	NP_000258.1:p.(Met2053AsnfsTer4)	NC_000017.10:g.29663725dup	(Likely) pathogenic	1 lab	e748a4b882
3:50381254 ZMYND10 C>T	3	50381254	50381254	C	T	ZMYND10	c.229G>A	NM_015896.3	NP_056980.2:p.(Ala77Thr)	NC_000003.11:g.50381254C>T	(Likely) benign	1 lab	e74c2ff8c5
17:5463258 NLRP1 T>C	17	5463258	5463258	T	C	NLRP1	c.758A>G	NM_033004.4	NP_127497.1:p.(His253Arg)	NC_000017.10:g.5463258T>C	VUS	1 lab	e74f9da100
20:398277 RBCK1 C>T	20	398277	398277	C	T	RBCK1	c.261+14C>T	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.398277C>T	(Likely) benign	1 lab	02bc3a0576
14:91755465 CCDC88C G>A	14	91755465	91755465	G	A	CCDC88C	c.4425C>T	NM_001080414.3	NP_001073883.2:p.(Asn1475=)	NC_000014.8:g.91755465G>A	(Likely) benign	1 lab	e751df843e
3:50232321 GNAT1 A>C	3	50232321	50232321	A	C	GNAT1	c.986A>C	NM_144499.2	NP_653082.1:p.(Lys329Thr)	NC_000003.11:g.50232321A>C	VUS	1 lab	e753d04928
X:153220075 HCFC1 C>T	X	153220075	153220075	C	T	HCFC1	c.3775G>A	NM_005334.2	NP_005325.2:p.(Glu1259Lys)	NC_000023.10:g.153220075C>T	(Likely) benign	1 lab	e754da2c7b
3:10547139 ATP2B2 C>T	3	10547139	10547139	C	T	ATP2B2	c.-320+10G>A	NM_001330611.2	NP_001317540.1:p.?	NC_000003.11:g.10547139C>T	(Likely) benign	1 lab	e754f6d408
9:6533125 GLDC C>T	9	6533125	6533125	C	T	GLDC	c.2955G>A	NM_000170.2	NP_000161.2:p.(Thr985=)	NC_000009.11:g.6533125C>T	(Likely) benign	1 lab	e757e1a589
8:28575113 EXTL3 C>T	8	28575113	28575113	C	T	EXTL3	c.1537C>T	NM_001440.3	NP_001431.1:p.(Arg513Cys)	NC_000008.10:g.28575113C>T	(Likely) pathogenic	1 lab	e757e96e1d
1:22200978 HSPG2 C>T	1	22200978	22200978	C	T	HSPG2	c.3580G>A	NM_001291860.1	NP_001278789.1:p.(Gly1194Arg)	NC_000001.10:g.22200978C>T	VUS	1 lab	e758a36e08
20:47991345 KCNB1 G>A	20	47991345	47991345	G	A	KCNB1	c.752C>T	NM_004975.3	NP_004966.1:p.(Ser251Leu)	NC_000020.10:g.47991345G>A	VUS	1 lab	e758d767d2
X:115303857 AGTR2 T>C	X	115303857	115303857	T	C	AGTR2	c.324T>C	NM_000686.4	NP_000677.2:p.(Tyr108=)	NC_000023.10:g.115303857T>C	(Likely) benign	1 lab	e7592e4620
6:99956644 USP45 G>T	6	99956644	99956644	G	T	USP45	c.115C>A	NM_001080481.1	NP_001073950.1:p.(Gln39Lys)	NC_000006.11:g.99956644G>T	VUS	1 lab	e75982f567
11:85437852 SYTL2 T>C	11	85437852	85437852	T	C	SYTL2	c.1459+1087A>G	NM_032943.4	NP_116561.1:p.?	NC_000011.9:g.85437852T>C	VUS	1 lab	e75e2d7e9f
1:1858101 CFAP74 G>A	1	1858101	1858101	G	A	CFAP74	c.3762C>T	NM_001304360.2	NP_001291289.1:p.(Asp1254=)	NC_000001.10:g.1858101G>A	(Likely) benign	1 lab	e760731462
10:101715963 DNMBP T>C	10	101715963	101715963	T	C	DNMBP	c.1268A>G	NM_015221.4	NP_056036.1:p.(Asn423Ser)	NC_000010.10:g.101715963T>C	(Likely) benign	1 lab	e760df7d7d
3:183910610 ABCF3 A>G	3	183910610	183910610	A	G	ABCF3	c.1676A>G	NM_018358.2	NP_060828.2:p.(Tyr559Cys)	NC_000003.11:g.183910610A>G	VUS	1 lab	e7645c4c3c
19:17952257 JAK3 C>T	19	17952257	17952257	C	T	JAK3	c.1083G>A	NM_000215.3	NP_000206.2:p.(Lys361=)	NC_000019.9:g.17952257C>T	(Likely) benign	1 lab	e765ee02ac
19:38655280 SIPA1L3 C>G	19	38655280	38655280	C	G	SIPA1L3	c.3942C>G	NM_015073.2	NP_055888.1:p.(Thr1314=)	NC_000019.9:g.38655280C>G	(Likely) benign	1 lab	e76665d3c4
5:110097264 SLC25A46 C>T	5	110097264	110097264	C	T	SLC25A46	c.1039C>T	NM_138773.3	NP_620128.1:p.(Arg347Cys)	NC_000005.9:g.110097264C>T	VUS	1 lab	e7691b319b
2:189860859 COL3A1 C>T	2	189860859	189860859	C	T	COL3A1	c.1617C>T	NM_000090.3	NP_000081.1:p.(Pro539=)	NC_000002.11:g.189860859C>T	(Likely) benign	1 lab	e769791ad6
1:120548025 NOTCH2 G>A	1	120548025	120548025	G	A	NOTCH2	c.342C>T	NM_024408.3	NP_077719.2:p.(Pro114=)	NC_000001.10:g.120548025G>A	(Likely) benign	1 lab	e769d06a52
4:88534214 DSPP T>C	4	88534214	88534214	T	C	DSPP	c.876T>C	NM_014208.3	NP_055023.2:p.(Asp292=)	NC_000004.11:g.88534214T>C	(Likely) benign	1 lab	e76b4eebe6
17:3563595 CTNS G>A	17	3563595	3563595	G	A	CTNS	c.1036G>A	NM_004937.2	NP_004928.2:p.(Asp346Asn)	NC_000017.10:g.3563595G>A	VUS	1 lab	e76cb4f3ac
13:25480216 CPAP C>T	13	25480216	25480216	C	T	CPAP	c.1960G>A	NM_018451.4	NP_060921.3:p.(Ala654Thr)	NC_000013.10:g.25480216C>T	(Likely) benign	1 lab	e76d50f2c0
9:135772925 TSC1 G>A	9	135772925	135772925	G	A	TSC1	c.2698C>T	NM_000368.4	NP_000359.1:p.(Gln900Ter)	NC_000009.11:g.135772925G>A	(Likely) pathogenic	1 lab	e76ea48735
14:45658342 FANCM A>C	14	45658342	45658342	A	C	FANCM	c.5117A>C	NM_020937.2	NP_065988.1:p.(Asn1706Thr)	NC_000014.8:g.45658342A>C	(Likely) benign	1 lab	e76eff8dee
X:150844566 PASD1 A>G	X	150844566	150844566	A	G	PASD1	c.2273A>G	NM_173493.2	NP_775764.2:p.(Gln758Arg)	NC_000023.10:g.150844566A>G	(Likely) benign	1 lab	e77008766e
5:74807640 CERT1 G>A	5	74807640	74807640	G	A	CERT1	c.30C>T	NM_001130105.1	NP_001123577.1:p.(Pro10=)	NC_000005.9:g.74807640G>A	(Likely) benign	1 lab	e7708f8681
5:176636915 NSD1 T>C	5	176636915	176636915	T	C	NSD1	c.1515T>C	NM_022455.4	NP_071900.2:p.(Asn505=)	NC_000005.9:g.176636915T>C	(Likely) benign	1 lab	e77278e18a
X:48370786 PORCN T>A	X	48370786	48370786	T	A	PORCN	c.233T>A	NM_001282167.1	NP_001269096.1:p.(Val78Glu)	NC_000023.10:g.48370786T>A	VUS	1 lab	e773e65641
4:8873256 HMX1 C>T	4	8873256	8873256	C	T	HMX1	c.85G>A	NM_018942.2	NP_061815.2:p.(Ala29Thr)	NC_000004.11:g.8873256C>T	VUS	1 lab	e774ab81fb
6:35477666 TULP1 C>T	6	35477666	35477666	C	T	TULP1	c.539G>A	NM_003322.5	NP_003313.3:p.(Arg180His)	NC_000006.11:g.35477666C>T	(Likely) benign	1 lab	e775104f29
5:90052843 ADGRV1 C>T	5	90052843	90052843	C	T	ADGRV1	c.11805C>T	NM_032119.4	NP_115495.3:p.(Asn3935=)	NC_000005.9:g.90052843C>T	(Likely) benign	1 lab	e7753b1359
19:48946903 GRIN2D C>T	19	48946903	48946903	C	T	GRIN2D	c.3720C>T	NM_000836.2	NP_000827.2:p.(His1240=)	NC_000019.9:g.48946903C>T	(Likely) benign	1 lab	e77641f2e7
X:100603516 BTK C>T	X	100603516	100603516	C	T	BTK				NC_000023.10:g.100603516C>T	(Likely) pathogenic	1 lab	14bab605c0
2:179458452 TTN G>A	2	179458452	179458452	G	A	TTN	c.58575C>T	NM_001267550.1	NP_001254479.1:p.(Asp19525=)	NC_000002.11:g.179458452G>A	(Likely) benign	1 lab	e776825789
2:179648849 TTN C>T	2	179648849	179648849	C	T	TTN	c.2723G>A	NM_001267550.1	NP_001254479.1:p.(Gly908Asp)	NC_000002.11:g.179648849C>T	VUS	1 lab	e777cacb18
11:117307910 DSCAML1 G>A	11	117307910	117307910	G	A	DSCAML1	c.4828C>T	NM_020693.3	NP_065744.2:p.(Arg1610Cys)	NC_000011.9:g.117307910G>A	VUS	1 lab	e77811e8f4
4:183714662 TENM3 A>T	4	183714662	183714662	A	T	TENM3	c.6837A>T	NM_001080477.3	NP_001073946.1:p.(Gly2279=)	NC_000004.11:g.183714662A>T	(Likely) benign	1 lab	e77a4cca2a
11:121384925 SORL1 G>A	11	121384925	121384925	G	A	SORL1	c.1106G>A	NM_003105.5	NP_003096.1:p.(Arg369His)	NC_000011.9:g.121384925G>A	(Likely) benign	1 lab	e77b177fd8
16:1259051 CACNA1H C>T	16	1259051	1259051	C	T	CACNA1H	c.3383C>T	NM_021098.2	NP_066921.2:p.(Pro1128Leu)	NC_000016.9:g.1259051C>T	VUS	1 lab	e77c130da5
1:225592364 LBR C>T	1	225592364	225592364	C	T	LBR	c.1528G>A	NM_002296.4	NP_002287.2:p.(Ala510Thr)	NC_000001.10:g.225592364C>T	(Likely) benign	1 lab	e77dba282c
21:47850083 PCNT G>A	21	47850083	47850083	G	A	PCNT	c.7850G>A	NM_006031.5	NP_006022.3:p.(Arg2617Lys)	NC_000021.8:g.47850083G>A	VUS	1 lab	e77df6d749
11:66467075 SPTBN2 T>TG	11	66467075	66467076	T	TG	SPTBN2	c.3577_3578insC	NM_006946.3	NP_008877.1:p.(Tyr1193SerfsTer16)	NC_000011.9:g.66467075_66467076insG	VUS	1 lab	e77e3d184c
11:67068466 ANKRD13D AG>A	11	67068466	67068468	AG	A	ANKRD13D	c.1081del	NM_207354.3	NP_997237.2:p.(Ala361GlnfsTer5)	NC_000011.9:g.67068468del	VUS	1 lab	e77e72dde9
12:103245501 PAH G>T	12	103245501	103245501	G	T	PAH	c.876C>A	NM_000277.1	NP_000268.1:p.(Pro292=)	NC_000012.11:g.103245501G>T	(Likely) benign	1 lab	e77ed5f1a4
1:11863520 MTHFR G>A	1	11863520	11863520	G	A	MTHFR	c.-13-334C>T	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11863520G>A	(Likely) benign	1 lab	e77eeb5b21
16:2114342 TSC2 C>T	16	2114342	2114342	C	T	TSC2	c.1513C>T	NM_000548.3	NP_000539.2:p.(Arg505Ter)	NC_000016.9:g.2114342C>T	(Likely) pathogenic	1 lab	e77f0631cf
9:117853200 TNC C>T	9	117853200	117853200	C	T	TNC	c.98G>A	NM_002160.3	NP_002151.2:p.(Arg33Gln)	NC_000009.11:g.117853200C>T	VUS	1 lab	e781b06190
9:132897358 GPR107 C>T	9	132897358	132897358	C	T	GPR107	c.1761C>T	NM_001136557.1	NP_001130029.1:p.(Asn587=)	NC_000009.11:g.132897358C>T	(Likely) benign	1 lab	e7833b96cf
20:47582438 ARFGEF2 C>T	20	47582438	47582438	C	T	ARFGEF2	c.937C>T	NM_006420.2	NP_006411.2:p.(Pro313Ser)	NC_000020.10:g.47582438C>T	(Likely) benign	1 lab	e7865ae9f3
4:79258916 FRAS1 C>A	4	79258916	79258916	C	A	FRAS1	c.2367C>A	NM_025074.7	NP_079350.5:p.(Asn789Lys)	NC_000004.11:g.79258916C>A	VUS	1 lab	e788c40687
16:88500741 ZNF469 T>C	16	88500741	88500741	T	C	ZNF469				NC_000016.9:g.88500741T>C	VUS	1 lab	e78ab155e8
7:5396689 TNRC18 G>A	7	5396689	5396689	G	A	TNRC18	c.5052C>T	NM_001080495.2	NP_001073964.2:p.(Leu1684=)	NC_000007.13:g.5396689G>A	(Likely) benign	1 lab	e78d15dfbd
8:65711043 CYP7B1 GC>G	8	65711043	65711044	GC	G	CYP7B1	c.101del	NM_004820.5	NP_004811.1:p.(Cys34SerfsTer15)	NC_000008.10:g.65711044del	(Likely) pathogenic	1 lab	e79255d470
5:118835083 HSD17B4 C>G	5	118835083	118835083	C	G	HSD17B4	c.1119C>G	NM_001199291.2	NP_001186220.1:p.(Ala373=)	NC_000005.9:g.118835083C>G	(Likely) benign	1 lab	e7933bf458
17:29548884 NF1 A>C	17	29548884	29548884	A	C	NF1	c.1658A>C	NM_000267.3	NP_000258.1:p.(His553Pro)	NC_000017.10:g.29548884A>C	VUS	1 lab	e795781b44
19:39409420 SARS2 G>A	19	39409420	39409420	G	A	SARS2	c.799C>T	NM_001145901.1	NP_001139373.1:p.(Arg267Cys)	NC_000019.9:g.39409420G>A	VUS	1 lab	e795866e00
1:15888801 DNAJC16 C>T	1	15888801	15888801	C	T	DNAJC16	c.1319C>T	NM_015291.4	NP_056106.1:p.(Ala440Val)	NC_000001.10:g.15888801C>T	VUS	1 lab	e79609cf54
1:114442746 AP4B1 A>T	1	114442746	114442746	A	T	AP4B1	c.894T>A	NM_006594.4	NP_006585.2:p.(Cys298Ter)	NC_000001.10:g.114442746A>T	VUS	1 lab	e7980026de
2:209185057 PIKFYVE A>G	2	209185057	209185057	A	G	PIKFYVE	c.2164A>G	NM_015040.3	NP_055855.2:p.(Thr722Ala)	NC_000002.11:g.209185057A>G	(Likely) benign	1 lab	e79810f29b
3:52018161 ACY1 C>G	3	52018161	52018161	C	G	ACY1	c.81C>G	NM_000666.2	NP_000657.1:p.(Pro27=)	NC_000003.11:g.52018161C>G	(Likely) benign	1 lab	e79838c23e
9:2643270 VLDLR G>T	9	2643270	2643270	G	T	VLDLR	c.559G>T	NM_003383.4	NP_003374.3:p.(Asp187Tyr)	NC_000009.11:g.2643270G>T	VUS	1 lab	e79922604e
8:144993621 PLEC A>T	8	144993621	144993621	A	T	PLEC	c.10779T>A	NM_201380.3	NP_958782.1:p.(Val3593=)	NC_000008.10:g.144993621A>T	(Likely) benign	1 lab	e799e8eb9c
9:418074 DOCK8 A>G	9	418074	418074	A	G	DOCK8	c.3707A>G	NM_203447.3	NP_982272.2:p.(Asp1236Gly)	NC_000009.11:g.418074A>G	VUS	1 lab	e79a037a6a
1:146400208 MISSING A>C	1	146400208	146400208	A	C	MISSING				NC_000001.10:g.146400208A>C	VUS	1 lab	e79afbed34
21:38309481 HLCS G>C	21	38309481	38309481	G	C	HLCS	c.264C>G	NM_001242784.2	NP_001229713.1:p.(Asp88Glu)	NC_000021.8:g.38309481G>C	(Likely) benign	1 lab	e79b2c0fed
13:23911156 SACS T>G	13	23911156	23911156	T	G	SACS	c.6859A>C	NM_014363.5	NP_055178.3:p.(Lys2287Gln)	NC_000013.10:g.23911156T>G	VUS	1 lab	e79b6b5c3f
6:111912649 TRAF3IP2 C>T	6	111912649	111912649	C	T	TRAF3IP2	c.641G>A	NM_147686.4	NP_679211.2:p.(Arg214Lys)	NC_000006.11:g.111912649C>T	(Likely) benign	1 lab	e79c34b6ff
1:103444259 COL11A1 C>T	1	103444259	103444259	C	T	COL11A1				NC_000001.10:g.103444259C>T	(Likely) pathogenic	1 lab	2401408d15
X:38169865 RPGR T>C	X	38169865	38169865	T	C	RPGR	c.778+3A>G	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38169865T>C	VUS	1 lab	e79cca1906
10:50678232 ERCC6 T>C	10	50678232	50678232	T	C	ERCC6	c.3774A>G	NM_000124.2	NP_000115.1:p.(Lys1258=)	NC_000010.10:g.50678232T>C	(Likely) benign	1 lab	e79d6d2bb2
X:215838 PLCXD1 G>A	X	215838	215838	G	A	PLCXD1	c.808G>A	NM_018390.3	NP_060860.1:p.(Glu270Lys)	NC_000023.10:g.215838G>A	(Likely) benign	1 lab	e79da856bb
6:168910646 SMOC2 G>A	6	168910646	168910646	G	A	SMOC2	c.136G>A	NM_022138.2	NP_071421.1:p.(Gly46Ser)	NC_000006.11:g.168910646G>A	(Likely) benign	1 lab	e79f01b9fd
17:74468763 RHBDF2 C>T	17	74468763	74468763	C	T	RHBDF2	c.2151+5G>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74468763C>T	VUS	1 lab	e7a04557c7
16:2126515 TSC2 G>A	16	2126515	2126515	G	A	TSC2	c.2766G>A	NM_000548.3	NP_000539.2:p.(Leu922=)	NC_000016.9:g.2126515G>A	(Likely) benign	1 lab	e7a05a4cc0
17:28386622 EFCAB5 G>T	17	28386622	28386622	G	T	EFCAB5	c.2640G>T	NM_198529.3	NP_940931.2:p.(Lys880Asn)	NC_000017.10:g.28386622G>T	VUS	1 lab	e7a0ee4217
10:55582442 PCDH15 C>T	10	55582442	55582442	C	T	PCDH15	c.5065G>A	NM_001142763.1	NP_001136235.1:p.(Glu1689Lys)	NC_000010.10:g.55582442C>T	(Likely) benign	1 lab	e7a319b3d2
17:74003273 EVPL G>A	17	74003273	74003273	G	A	EVPL	c.6079C>T	NM_001320747.1	NP_001307676.1:p.(Leu2027=)	NC_000017.10:g.74003273G>A	(Likely) benign	1 lab	e7a3363635
17:29663652 NF1 G>C	17	29663652	29663652	G	C	NF1	c.6085-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29663652G>C	(Likely) pathogenic	1 lab	e7a38ec420
15:43075709 TTBK2 G>A	15	43075709	43075709	G	A	TTBK2	c.1105C>T	NM_173500.3	NP_775771.3:p.(Pro369Ser)	NC_000015.9:g.43075709G>A	VUS	1 lab	e7a507a55b
1:45296569 PTCH2 G>C	1	45296569	45296569	G	C	PTCH2	c.764C>G	NM_001166292.1	NP_001159764.1:p.(Pro255Arg)	NC_000001.10:g.45296569G>C	VUS	1 lab	e7a67bd866
20:32438839 CHMP4B G>A	20	32438839	32438839	G	A	CHMP4B	c.450G>A	NM_176812.4	NP_789782.1:p.(Ser150=)	NC_000020.10:g.32438839G>A	(Likely) benign	1 lab	e7aa278498
14:70461149 SMOC1 T>C	14	70461149	70461149	T	C	SMOC1	c.616T>C	NM_001034852.2	NP_001030024.1:p.(Leu206=)	NC_000014.8:g.70461149T>C	(Likely) benign	1 lab	e7aaa3f80f
14:68274375 ZFYVE26 G>A	14	68274375	68274375	G	A	ZFYVE26	c.626C>T	NM_015346.3	NP_056161.2:p.(Ser209Leu)	NC_000014.8:g.68274375G>A	(Likely) benign	1 lab	e7ac57e17e
16:223442 HBA2 G>C	16	223442	223442	G	C	HBA2	c.301-29G>C	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223442G>C	(Likely) benign	1 lab	e7ac7ab722
15:65275932 SPG21 C>G	15	65275932	65275932	C	G	SPG21	c.-24-1G>C	NM_016630.6	NP_057714.1:p.?	NC_000015.9:g.65275932C>G	VUS	1 lab	e891a6f490
13:52520505 ATP7B G>A	13	52520505	52520505	G	A	ATP7B	c.2975C>T	NM_000053.3	NP_000044.2:p.(Pro992Leu)	NC_000013.10:g.52520505G>A	(Likely) pathogenic	1 lab	e7ad5ff0f2
8:48765338 PRKDC G>C	8	48765338	48765338	G	C	PRKDC	c.6901C>G	NM_006904.6	NP_008835.5:p.(Gln2301Glu)	NC_000008.10:g.48765338G>C	(Likely) benign	1 lab	e7ae469a85
X:15365429 VEGFD G>A	X	15365429	15365429	G	A	VEGFD	c.795C>T	NM_004469.4	NP_004460.1:p.(Asp265=)	NC_000023.10:g.15365429G>A	(Likely) benign	1 lab	e7ae998be9
2:47641378 MSH2 A>G	2	47641378	47641378	A	G	MSH2	c.793-30A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641378A>G	(Likely) benign	1 lab	e7aea5d3f1
19:50367025 PNKP TG>T	19	50367025	50367028	TG	T	PNKP	c.745-9del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50367028del	(Likely) benign	1 lab	e7b12d5b10
11:118354901 KMT2A A>T	11	118354901	118354901	A	T	KMT2A	c.4090A>T	NM_005933.3	NP_005924.2:p.(Lys1364Ter)	NC_000011.9:g.118354901A>T	(Likely) pathogenic	1 lab	e7b135b51a
5:1414924 SLC6A3 C>T	5	1414924	1414924	C	T	SLC6A3	c.1038G>A	NM_001044.4	NP_001035.1:p.(Ala346=)	NC_000005.9:g.1414924C>T	(Likely) benign	1 lab	e7b32064ec
X:73961503 NEXMIF A>G	X	73961503	73961503	A	G	NEXMIF	c.2889T>C	NM_001008537.2	NP_001008537.1:p.(Ser963=)	NC_000023.10:g.73961503A>G	(Likely) benign	1 lab	e7b481108c
16:2147387 PKD1 CA>C	16	2147387	2147388	CA	C	PKD1	c.10337del	NM_001009944.3	NP_001009944.3:p.(Leu3446ArgfsTer27)	NC_000016.9:g.2147388del	VUS	1 lab	e7b776f114
3:129251141 RHO C>T	3	129251141	129251141	C	T	RHO	c.578C>T	NM_000539.3	NP_000530.1:p.(Thr193Met)	NC_000003.11:g.129251141C>T	VUS	1 lab	e7b930c278
2:74076511 STAMBP G>A	2	74076511	74076511	G	A	STAMBP	c.764G>A	NM_006463.5	NP_006454.1:p.(Arg255His)	NC_000002.11:g.74076511G>A	VUS	1 lab	e7b9ad36dd
1:158590091 SPTA1 G>A	1	158590091	158590091	G	A	SPTA1	c.6286C>T	NM_003126.3	NP_003117.2:p.(Gln2096Ter)	NC_000001.10:g.158590091G>A	(Likely) pathogenic	1 lab	e7bb920342
X:123467034 TEX13D C>T	X	123467034	123467034	C	T	TEX13D	c.267C>T	NM_001355534.1	NP_001342463.1:p.(His89=)	NC_000023.10:g.123467034C>T	(Likely) benign	1 lab	e7bba4ab3a
9:135798857 TSC1 A>AG	9	135798857	135798859	A	AG	TSC1	c.385dup	NM_000368.4	NP_000359.1:p.(Leu129ProfsTer25)	NC_000009.11:g.135798859dup	(Likely) pathogenic	1 lab	e7bd821eab
1:110235852 GSTM1 A>G	1	110235852	110235852	A	G	GSTM1	c.592A>G	NM_000561.3	NP_000552.2:p.(Met198Val)	NC_000001.10:g.110235852A>G	VUS	1 lab	e7c0443ee4
16:72146374 DHX38 C>T	16	72146374	72146374	C	T	DHX38	c.3662C>T	NM_014003.3	NP_054722.2:p.(Thr1221Met)	NC_000016.9:g.72146374C>T	VUS	1 lab	e7c446990b
1:16477467 EPHA2 G>A	1	16477467	16477467	G	A	EPHA2	c.86-9C>T	NM_004431.4	NP_004422.2:p.?	NC_000001.10:g.16477467G>A	(Likely) benign	1 lab	e7c55e889e
10:127462880 MMP21 G>A	10	127462880	127462880	G	A	MMP21	c.217C>T	NM_147191.1	NP_671724.1:p.(Pro73Ser)	NC_000010.10:g.127462880G>A	(Likely) benign	1 lab	e7c57d1829
10:13166021 OPTN C>A	10	13166021	13166021	C	A	OPTN	c.909C>A	NM_001008211.1	NP_001008212.1:p.(Asn303Lys)	NC_000010.10:g.13166021C>A	(Likely) benign	1 lab	e7c604ee18
9:2718916 KCNV2 C>A	9	2718916	2718916	C	A	KCNV2	c.1177C>A	NM_133497.3	NP_598004.1:p.(His393Asn)	NC_000009.11:g.2718916C>A	VUS	1 lab	e7c6a9847a
1:145562305 ANKRD35 C>T	1	145562305	145562305	C	T	ANKRD35	c.1993C>T	NM_144698.5	NP_653299.4:p.(Gln665Ter)	NC_000001.10:g.145562305C>T	VUS	1 lab	e7c742d594
2:47233120 TTC7A C>T	2	47233120	47233120	C	T	TTC7A	c.1125C>T	NM_001288951.1	NP_001275880.1:p.(Ser375=)	NC_000002.11:g.47233120C>T	VUS	1 lab	e7c75f2232
X:53565357 HUWE1 A>G	X	53565357	53565357	A	G	HUWE1	c.11937T>C	NM_031407.6	NP_113584.3:p.(Asp3979=)	NC_000023.10:g.53565357A>G	(Likely) benign	1 lab	e7c7a57db4
5:33947258 SLC45A2 GACAGCAC>G	5	33947258	33947267	GACAGCAC	G	SLC45A2	c.1368+3_1368+9del	NM_016180.5	NP_057264.4:p.?	NC_000005.9:g.33947261_33947267del	(Likely) pathogenic	1 lab	e7c97bf62d
16:21170719 DNAH3 G>A	16	21170719	21170719	G	A	DNAH3	c.44C>T	NM_017539.2	NP_060009.1:p.(Pro15Leu)	NC_000016.9:g.21170719G>A	(Likely) benign	1 lab	e7cad7b427
3:31666442 STT3B C>T	3	31666442	31666442	C	T	STT3B	c.1764C>T	NM_178862.2	NP_849193.1:p.(Tyr588=)	NC_000003.11:g.31666442C>T	(Likely) benign	1 lab	e7cc562268
16:57937756 CNGB1 C>T	16	57937756	57937756	C	T	CNGB1	c.2764G>A	NM_001297.4	NP_001288.3:p.(Glu922Lys)	NC_000016.9:g.57937756C>T	VUS	1 lab	e7cef348d4
17:36486848 GPR179 C>G	17	36486848	36486848	C	G	GPR179	c.2604G>C	NM_001004334.3	NP_001004334.3:p.(Glu868Asp)	NC_000017.10:g.36486848C>G	(Likely) benign	1 lab	e7cff0ab3d
3:15683559 BTD A>C	3	15683559	15683559	A	C	BTD	c.454A>C	NM_000060.4	NP_000051.1:p.(Thr152Pro)	NC_000003.11:g.15683559A>C	VUS	1 lab	e7d210ad35
1:165182953 LMX1A C>T	1	165182953	165182953	C	T	LMX1A	c.594G>A	NM_177398.4	NP_796372.1:p.(Pro198=)	NC_000001.10:g.165182953C>T	(Likely) benign	1 lab	e7d30e85ba
8:126085555 WASHC5 A>G	8	126085555	126085555	A	G	WASHC5	c.990T>C	NM_014846.3	NP_055661.3:p.(Tyr330=)	NC_000008.10:g.126085555A>G	(Likely) benign	1 lab	e7d535e23a
6:139266400 REPS1 G>A	6	139266400	139266400	G	A	REPS1	c.584C>T	NM_001286611.1	NP_001273540.1:p.(Ala195Val)	NC_000006.11:g.139266400G>A	(Likely) benign	1 lab	e7d570274f
X:151821310 GABRQ C>T	X	151821310	151821310	C	T	GABRQ	c.1465C>T	NM_018558.3	NP_061028.3:p.(His489Tyr)	NC_000023.10:g.151821310C>T	VUS	1 lab	e7d5949fa5
2:179459396 TTN T>G	2	179459396	179459396	T	G	TTN	c.57848-23A>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179459396T>G	(Likely) benign	1 lab	e7d64c9b9e
2:210832237 UNC80 C>T	2	210832237	210832237	C	T	UNC80	c.7684C>T	NM_032504.1	NP_115893.1:p.(Arg2562Cys)	NC_000002.11:g.210832237C>T	VUS	1 lab	e7dc05aab5
X:51453765 MISSING G>A	X	51453765	51453765	G	A	MISSING				NC_000023.10:g.51453765G>A	(Likely) benign	1 lab	e7de14d34a
12:111350999 MYL2 G>A	12	111350999	111350999	G	A	MYL2	c.353+51C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111350999G>A	(Likely) benign	1 lab	e7df798dce
22:23915658 IGLL1 G>A	22	23915658	23915658	G	A	IGLL1				NC_000022.10:g.23915658G>A	(Likely) benign	1 lab	e7e07d2c21
16:2120598 TSC2 C>T	16	2120598	2120598	C	T	TSC2	c.1839+19C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120598C>T	(Likely) benign	1 lab	e7e34b235b
4:6302739 WFS1 C>A	4	6302739	6302739	C	A	WFS1	c.1217C>A	NM_006005.3	NP_005996.2:p.(Ala406Asp)	NC_000004.11:g.6302739C>A	VUS	1 lab	e7e36b7723
1:235945230 LYST T>C	1	235945230	235945230	T	C	LYST	c.5020A>G	NM_000081.3	NP_000072.2:p.(Asn1674Asp)	NC_000001.10:g.235945230T>C	VUS	1 lab	e7e47bc8c7
8:48752659 PRKDC C>T	8	48752659	48752659	C	T	PRKDC	c.7372G>A	NM_006904.6	NP_008835.5:p.(Val2458Ile)	NC_000008.10:g.48752659C>T	(Likely) benign	1 lab	e7e704bae9
19:18896847 COMP C>T	19	18896847	18896847	C	T	COMP	c.1417G>A	NM_000095.2	NP_000086.2:p.(Asp473Asn)	NC_000019.9:g.18896847C>T	(Likely) pathogenic	1 lab	e7e71dda09
6:152675954 SYNE1 G>A	6	152675954	152675954	G	A	SYNE1	c.10766C>T	NM_182961.3	NP_892006.3:p.(Thr3589Ile)	NC_000006.11:g.152675954G>A	VUS	1 lab	e7e7f77cd8
1:11090243 MASP2 G>C	1	11090243	11090243	G	C	MASP2	c.1287C>G	NM_006610.3	NP_006601.2:p.(Val429=)	NC_000001.10:g.11090243G>C	(Likely) benign	1 lab	e7e892f6e1
22:32506051 SLC5A1 G>A	22	32506051	32506051	G	A	SLC5A1	c.1846G>A	NM_000343.3	NP_000334.1:p.(Gly616Ser)	NC_000022.10:g.32506051G>A	(Likely) benign	1 lab	e7e8c12650
12:124197243 ATP6V0A2 G>A	12	124197243	124197243	G	A	ATP6V0A2	c.117+14G>A	NM_012463.3	NP_036595.2:p.?	NC_000012.11:g.124197243G>A	(Likely) benign	1 lab	e7e944729a
X:13337300 ATXN3L C>A	X	13337300	13337300	C	A	ATXN3L	c.754G>T	NM_001135995.1	NP_001129467.1:p.(Glu252Ter)	NC_000023.10:g.13337300C>A	VUS	1 lab	e7e99817e1
8:144809962 SACK1H C>A	8	144809962	144809962	C	A	SACK1H	c.1669G>T	NM_198488.3	NP_940890.3:p.(Gly557Cys)	NC_000008.10:g.144809962C>A	(Likely) benign	1 lab	e7f2fcb2a1
12:40699702 LRRK2 C>T	12	40699702	40699702	C	T	LRRK2	c.3893C>T	NM_198578.3	NP_940980.3:p.(Pro1298Leu)	NC_000012.11:g.40699702C>T	VUS	1 lab	e7f3b4989a
14:104506550 TDRD9 A>G	14	104506550	104506550	A	G	TDRD9	c.3734A>G	NM_153046.3	NP_694591.2:p.(Lys1245Arg)	NC_000014.8:g.104506550A>G	VUS	1 lab	e7f4483e39
11:6413103 SMPD1 G>A	11	6413103	6413103	G	A	SMPD1	c.808G>A	NM_000543.4	NP_000534.3:p.(Gly270Ser)	NC_000011.9:g.6413103G>A	VUS	1 lab	e7f592c5b1
5:149265864 PDE6A A>G	5	149265864	149265864	A	G	PDE6A	c.1802T>C	NM_000440.2	NP_000431.2:p.(Ile601Thr)	NC_000005.9:g.149265864A>G	VUS	1 lab	e7f6cfd4b8
X:37913632 SYTL5 G>T	X	37913632	37913632	G	T	SYTL5	c.286G>T	NM_001163335.1	NP_001156807.1:p.(Gly96Cys)	NC_000023.10:g.37913632G>T	(Likely) benign	1 lab	e7f6d2b6b6
5:112439988 MCC G>A	5	112439988	112439988	G	A	MCC	c.1092C>T	NM_001085377.1	NP_001078846.1:p.(Cys364=)	NC_000005.9:g.112439988G>A	(Likely) benign	1 lab	e7f73b446e
2:97465379 CNNM4 C>A	2	97465379	97465379	C	A	CNNM4	c.1942C>A	NM_020184.3	NP_064569.3:p.(Pro648Thr)	NC_000002.11:g.97465379C>A	VUS	1 lab	e7f772194c
1:228353817 IBA57 G>C	1	228353817	228353817	G	C	IBA57	c.300G>C	NM_001010867.3	NP_001010867.1:p.(Leu100=)	NC_000001.10:g.228353817G>C	(Likely) benign	1 lab	e7f9530e98
16:2126068 TSC2 G>A	16	2126068	2126068	G	A	TSC2	c.2640-1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2126068G>A	(Likely) pathogenic	1 lab	e7fc682f87
21:47831925 PCNT G>A	21	47831925	47831925	G	A	PCNT	c.5938G>A	NM_006031.5	NP_006022.3:p.(Gly1980Ser)	NC_000021.8:g.47831925G>A	(Likely) benign	1 lab	e7fee187ef
18:44098104 LOXHD1 T>C	18	44098104	44098104	T	C	LOXHD1	c.5201A>G	NM_144612.6	NP_653213.6:p.(Lys1734Arg)	NC_000018.9:g.44098104T>C	VUS	1 lab	e80378df3d
19:17316775 MYO9B C>G	19	17316775	17316775	C	G	MYO9B	c.5071C>G	NM_001130065.1	NP_001123537.1:p.(Pro1691Ala)	NC_000019.9:g.17316775C>G	(Likely) benign	1 lab	e804444e20
X:123468080 TEX13D CAA>C	X	123468080	123468083	CAA	C	TEX13D	c.1315_1316del	NM_001355534.2	NP_001342463.1:p.(Lys439GlufsTer36)	NC_000023.10:g.123468082_123468083del	VUS	1 lab	e80590fe3b
11:46907982 LRP4 C>T	11	46907982	46907982	C	T	LRP4	c.2318G>A	NM_002334.3	NP_002325.2:p.(Arg773His)	NC_000011.9:g.46907982C>T	VUS	1 lab	e807943fd7
7:100681803 MUC17 T>G	7	100681803	100681803	T	G	MUC17	c.7106T>G	NM_001040105.1	NP_001035194.1:p.(Val2369Gly)	NC_000007.13:g.100681803T>G	VUS	1 lab	e80820a222
13:40293942 COG6 G>A	13	40293942	40293942	G	A	COG6	c.1562G>A	NM_001145079.1	NP_001138551.1:p.(Arg521His)	NC_000013.10:g.40293942G>A	VUS	1 lab	e80937f66c
11:62394565 GANAB G>A	11	62394565	62394565	G	A	GANAB	c.1554C>T	NM_001329224.1	NP_001316153.1:p.(Asp518=)	NC_000011.9:g.62394565G>A	(Likely) benign	1 lab	e80acd2eb5
2:25966582 ASXL2 T>A	2	25966582	25966582	T	A	ASXL2	c.2624A>T	NM_018263.5	NP_060733.4:p.(Asp875Val)	NC_000002.11:g.25966582T>A	(Likely) benign	1 lab	e80df299ee
10:73326593 CDH23 C>T	10	73326593	73326593	C	T	CDH23	c.524C>T	NM_022124.5	NP_071407.4:p.(Ser175Phe)	NC_000010.10:g.73326593C>T	VUS	1 lab	e80f19fb6e
19:3979408 EEF2 A>G	19	3979408	3979408	A	G	EEF2	c.1632T>C	NM_001961.3	NP_001952.1:p.(His544=)	NC_000019.9:g.3979408A>G	(Likely) benign	1 lab	e813b54652
7:103270452 RELN G>A	7	103270452	103270452	G	A	RELN	c.2637C>T	NM_173054.2	NP_774959.1:p.(Val879=)	NC_000007.13:g.103270452G>A	(Likely) benign	1 lab	e81600bdda
11:56143943 OR8U1 A>C	11	56143943	56143943	A	C	OR8U1	c.844A>C	NM_001005204.1	NP_001005204.1:p.(Ile282Leu)	NC_000011.9:g.56143943A>C	VUS	1 lab	e8189f42ca
6:32014152 TNXB C>A	6	32014152	32014152	C	A	TNXB	c.10400G>T	NM_019105.6	NP_061978.6:p.(Trp3467Leu)	NC_000006.11:g.32014152C>A	VUS	1 lab	e8190de769
10:123247580 FGFR2 G>A	10	123247580	123247580	G	A	FGFR2	c.1911C>T	NM_000141.4	NP_000132.3:p.(Asn637=)	NC_000010.10:g.123247580G>A	(Likely) benign	1 lab	e81b74e36c
9:27009043 IFT74 G>A	9	27009043	27009043	G	A	IFT74	c.613G>A	NM_001349928.1	NP_001336857.1:p.(Glu205Lys)	NC_000009.11:g.27009043G>A	VUS	1 lab	e81bd06214
9:133364777 ASS1 C>A	9	133364777	133364777	C	A	ASS1	c.896C>A	NM_000050.4	NP_000041.2:p.(Ala299Asp)	NC_000009.11:g.133364777C>A	VUS	1 lab	e81c92cdf6
2:135809886 RAB3GAP1 C>T	2	135809886	135809886	C	T	RAB3GAP1	c.9C>T	NM_001172435.1	NP_001165906.1:p.(Ala3=)	NC_000002.11:g.135809886C>T	(Likely) benign	1 lab	e81ddeee36
22:33255314 TIMP3 C>T	22	33255314	33255314	C	T	TIMP3	c.586C>T	NM_000362.4	NP_000353.1:p.(Arg196Ter)	NC_000022.10:g.33255314C>T	VUS	1 lab	e81e57411f
13:32900221 BRCA2 G>T	13	32900221	32900221	G	T	BRCA2	c.426-17G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900221G>T	(Likely) benign	1 lab	e81f7483ac
17:29548956 NF1 A>AGGGC	17	29548956	29548957	A	AGGGC	NF1	c.1721+9_1721+10insGGGC	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29548956_29548957insGGGC	(Likely) benign	1 lab	e81fc7aca9
15:62165513 VPS13C CTCT>C	15	62165513	62165520	CTCT	C	VPS13C	c.10507_10509del	NM_020821.3	NP_065872.1:p.(Arg3503del)	NC_000015.9:g.62165518_62165520del	VUS	1 lab	e81fd49b68
12:125455884 DHX37 G>A	12	125455884	125455884	G	A	DHX37	c.1155C>T	NM_032656.4	NP_116045.2:p.(Ile385=)	NC_000012.11:g.125455884G>A	(Likely) benign	1 lab	e82108bbd1
15:89761880 RLBP1 A>G	15	89761880	89761880	A	G	RLBP1	c.57T>C	NM_000326.4	NP_000317.1:p.(Arg19=)	NC_000015.9:g.89761880A>G	(Likely) benign	1 lab	e8215edb31
3:197427710 RUBCN A>G	3	197427710	197427710	A	G	RUBCN	c.855T>C	NM_001145642.4	NP_001139114.1:p.(Asn285=)	NC_000003.11:g.197427710A>G	(Likely) benign	1 lab	e825c2d32a
2:219209614 PNKD G>A	2	219209614	219209614	G	A	PNKD	c.1068G>A	NM_015488.4	NP_056303.3:p.(Pro356=)	NC_000002.11:g.219209614G>A	(Likely) benign	1 lab	e829364758
11:93523751 MED17 G>A	11	93523751	93523751	G	A	MED17	c.429G>A	NM_004268.4	NP_004259.3:p.(Thr143=)	NC_000011.9:g.93523751G>A	(Likely) benign	1 lab	e8296ee8f6
9:32987678 APTX T>C	9	32987678	32987678	T	C	APTX	c.347A>G	NM_001195249.1	NP_001182178.1:p.(Lys116Arg)	NC_000009.11:g.32987678T>C	(Likely) benign	1 lab	e82b2007e8
9:77377752 TRPM6 G>A	9	77377752	77377752	G	A	TRPM6	c.3835C>T	NM_017662.4	NP_060132.3:p.(Pro1279Ser)	NC_000009.11:g.77377752G>A	VUS	1 lab	e82c372638
17:29556974 NF1 TG>T	17	29556974	29556975	TG	T	NF1	c.2973del	NM_001042492.3	NP_001035957.1:p.(Met991IlefsTer3)	NC_000017.10:g.29556975del	(Likely) pathogenic	1 lab	e82d647de2
7:154593157 DPP6 G>A	7	154593157	154593157	G	A	DPP6	c.1392G>A	NM_130797.4	NP_570629.2:p.(Thr464=)	NC_000007.13:g.154593157G>A	(Likely) benign	1 lab	e82dd0fd7b
X:47774554 ZNF81 A>G	X	47774554	47774554	A	G	ZNF81	c.509A>G	NM_007137.3	NP_009068.2:p.(Lys170Arg)	NC_000023.10:g.47774554A>G	(Likely) benign	1 lab	e82e6f7b39
4:128812357 PLK4 G>A	4	128812357	128812357	G	A	PLK4	c.1935+6G>A	NM_014264.4	NP_055079.3:p.?	NC_000004.11:g.128812357G>A	(Likely) benign	1 lab	e82e8c72f5
9:130286046 NIBAN2 C>T	9	130286046	130286046	C	T	NIBAN2	c.501G>A	NM_022833.4	NP_073744.2:p.(Ala167=)	NC_000009.11:g.130286046C>T	(Likely) benign	1 lab	e82fc9d1c7
8:145740557 RECQL4 C>T	8	145740557	145740557	C	T	RECQL4	c.1460G>A	NM_004260.3	NP_004251.3:p.(Arg487His)	NC_000008.10:g.145740557C>T	(Likely) benign	1 lab	e830543f0c
3:49136832 QARS1 G>A	3	49136832	49136832	G	A	QARS1	c.1559C>T	NM_005051.2	NP_005042.1:p.(Thr520Met)	NC_000003.11:g.49136832G>A	VUS	1 lab	e83063600d
19:3771759 RAX2 C>T	19	3771759	3771759	C	T	RAX2	c.120G>A	NM_001319074.1	NP_001306003.1:p.(Pro40=)	NC_000019.9:g.3771759C>T	(Likely) benign	1 lab	e8307cf0ee
1:34630676 CSMD2 T>C	1	34630676	34630676	T	C	CSMD2	c.23A>G	NM_001281956.1	NP_001268885.1:p.(Glu8Gly)	NC_000001.10:g.34630676T>C	VUS	1 lab	e830d318cc
2:44547402 SLC3A1 A>G	2	44547402	44547402	A	G	SLC3A1	c.1682A>G	NM_000341.3	NP_000332.2:p.(Asn561Ser)	NC_000002.11:g.44547402A>G	VUS	1 lab	e832c2c9ea
17:29496986 NF1 AT>A	17	29496986	29496988	AT	A	NF1	c.559del	NM_001042492.3	NP_001035957.1:p.(Cys187ValfsTer4)	NC_000017.10:g.29496988del	(Likely) pathogenic	1 lab	e832f175f1
1:171556205 PRRC2C C>G	1	171556205	171556205	C	G	PRRC2C	c.7807C>G	NM_015172.3	NP_055987.2:p.(Leu2603Val)	NC_000001.10:g.171556205C>G	VUS	1 lab	e83636b0f5
7:103301859 RELN T>G	7	103301859	103301859	T	G	RELN	c.1405A>C	NM_005045.3	NP_005036.2:p.(Thr469Pro)	NC_000007.13:g.103301859T>G	VUS	1 lab	e837430bda
2:170129561 LRP2 T>C	2	170129561	170129561	T	C	LRP2	c.1992A>G	NM_004525.3	NP_004516.2:p.(Lys664=)	NC_000002.11:g.170129561T>C	VUS	1 lab	e837790281
16:57486807 COQ9 G>A	16	57486807	57486807	G	A	COQ9	c.337G>A	NM_020312.3	NP_064708.1:p.(Ala113Thr)	NC_000016.9:g.57486807G>A	(Likely) benign	1 lab	e8378cb03c
9:117846594 TNC C>T	9	117846594	117846594	C	T	TNC	c.2025G>A	NM_002160.3	NP_002151.2:p.(Thr675=)	NC_000009.11:g.117846594C>T	(Likely) benign	1 lab	e837e356f4
2:166198952 SCN2A AT>A	2	166198952	166198954	AT	A	SCN2A	c.2537del	NM_001040142.2	NP_001035232.1:p.(Leu846CysfsTer22)	NC_000002.11:g.166198954del	(Likely) pathogenic	1 lab	e8389b6499
4:106576830 ARHGEF38 T>C	4	106576830	106576830	T	C	ARHGEF38	c.1184T>C	NM_001242729.2	NP_001229658.1:p.(Met395Thr)	NC_000004.11:g.106576830T>C	(Likely) benign	1 lab	e83bfba208
1:10363226 KIF1B G>A	1	10363226	10363226	G	A	KIF1B	c.1983G>A	NM_183416.3	NP_904325.2:p.(Ala661=)	NC_000001.10:g.10363226G>A	(Likely) benign	1 lab	e83d7cdd81
2:179443800 TTN AT>A	2	179443800	179443803	AT	A	TTN	c.67956del	NM_001267550.2	NP_001254479.2:p.(Lys22652AsnfsTer10)	NC_000002.11:g.179443803del	(Likely) pathogenic	1 lab	e83db7592d
12:124156154 TCTN2 C>T	12	124156154	124156154	C	T	TCTN2	c.183C>T	NM_024809.4	NP_079085.2:p.(Asp61=)	NC_000012.11:g.124156154C>T	(Likely) benign	1 lab	e83e1666f3
7:29994920 SCRN1 T>C	7	29994920	29994920	T	C	SCRN1	c.216A>G	NM_001145513.1	NP_001138985.1:p.(Arg72=)	NC_000007.13:g.29994920T>C	(Likely) benign	1 lab	e83ec4f239
19:50747504 MYH14 C>T	19	50747504	50747504	C	T	MYH14	c.1120C>T	NM_001145809.1	NP_001139281.1:p.(Leu374=)	NC_000019.9:g.50747504C>T	(Likely) benign	1 lab	e83ee9fd30
14:21990342 SALL2 T>G	14	21990342	21990342	T	G	SALL2	c.2527A>C	NM_001291446.1	NP_001278375.1:p.(Met843Leu)	NC_000014.8:g.21990342T>G	VUS	1 lab	e83f769f27
2:71187119 ATP6V1B1 AC>A	2	71187119	71187120	AC	A	ATP6V1B1	c.497del	NM_001692.4	NP_001683.2:p.(Thr166ArgfsTer9)	NC_000002.11:g.71187120del	(Likely) pathogenic	1 lab	e83faf0d71
14:64867589 MTHFD1 A>G	14	64867589	64867589	A	G	MTHFD1	c.120A>G	NM_005956.4	NP_005947.3:p.(Ile40Met)	NC_000014.8:g.64867589A>G	VUS	1 lab	e84169b088
1:158627487 SPTA1 A>G	1	158627487	158627487	A	G	SPTA1	c.2588-3T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158627487A>G	(Likely) benign	1 lab	e8420d0a45
2:69034586 ARHGAP25 T>C	2	69034586	69034586	T	C	ARHGAP25	c.648T>C	NM_001007231.2	NP_001007232.2:p.(Asp216=)	NC_000002.11:g.69034586T>C	(Likely) benign	1 lab	e8423ff218
X:48675762 HDAC6 C>T	X	48675762	48675762	C	T	HDAC6	c.1821C>T	NM_001321226.1	NP_001308155.1:p.(Pro607=)	NC_000023.10:g.48675762C>T	(Likely) benign	1 lab	e8457b98f0
X:149938799 CD99L2 G>A	X	149938799	149938799	G	A	CD99L2	c.729C>T	NM_001242614.1	NP_001229543.1:p.(Ala243=)	NC_000023.10:g.149938799G>A	(Likely) benign	1 lab	e845b9d0ab
20:57430345 GNAS C>G	20	57430345	57430345	C	G	GNAS	c.1838C>G	NM_001077490.2	NP_001070958.1:p.(Thr613Arg)	NC_000020.10:g.57430345C>G	(Likely) benign	1 lab	e846ddc656
17:17699380 RAI1 G>A	17	17699380	17699380	G	A	RAI1	c.3118G>A	NM_030665.3	NP_109590.3:p.(Gly1040Arg)	NC_000017.10:g.17699380G>A	VUS	1 lab	e8486e981d
10:102748205 TWNK G>A	10	102748205	102748205	G	A	TWNK	c.238G>A	NM_001163812.1	NP_001157284.1:p.(Ala80Thr)	NC_000010.10:g.102748205G>A	(Likely) benign	1 lab	e84a7642e3
1:44466494 SLC6A9 G>A	1	44466494	44466494	G	A	SLC6A9	c.1700C>T	NM_201649.3	NP_964012.2:p.(Pro567Leu)	NC_000001.10:g.44466494G>A	VUS	1 lab	e84c254195
4:48507620 FRYL A>T	4	48507620	48507620	A	T	FRYL	c.8407T>A	NM_015030.1	NP_055845.1:p.(Cys2803Ser)	NC_000004.11:g.48507620A>T	VUS	1 lab	e84d220699
X:32662329 DMD T>C	X	32662329	32662329	T	C	DMD	c.882A>G	NM_004010.3	NP_004001.1:p.(Glu294=)	NC_000023.10:g.32662329T>C	(Likely) benign	1 lab	e84e7bb6e3
11:130059705 ST14 G>A	11	130059705	130059705	G	A	ST14	c.512G>A	NM_021978.3	NP_068813.1:p.(Arg171His)	NC_000011.9:g.130059705G>A	(Likely) benign	1 lab	e85268661d
2:228552141 SLC19A3 C>G	2	228552141	228552141	C	G	SLC19A3	c.1463G>C	NM_025243.3	NP_079519.1:p.(Ser488Thr)	NC_000002.11:g.228552141C>G	(Likely) benign	1 lab	e853ff567e
11:47354519 MYBPC3 C>CCACT	11	47354519	47354524	C	CCACT	MYBPC3	c.3332_3335dup	NM_000256.3	NP_000247.2:p.(Trp1112Ter)	NC_000011.9:g.47354521_47354524dup	(Likely) pathogenic	1 lab	e854c65634
1:227152802 COQ8A C>T	1	227152802	227152802	C	T	COQ8A	c.279C>T	NM_020247.4	NP_064632.2:p.(Phe93=)	NC_000001.10:g.227152802C>T	(Likely) benign	1 lab	e8551e1ade
1:152278833 FLG A>C	1	152278833	152278833	A	C	FLG	c.8529T>G	NM_002016.1	NP_002007.1:p.(Asn2843Lys)	NC_000001.10:g.152278833A>C	VUS	1 lab	e855217feb
10:73571172 CDH23 G>T	10	73571172	73571172	G	T	CDH23	c.9178G>T	NM_022124.5	NP_071407.4:p.(Asp3060Tyr)	NC_000010.10:g.73571172G>T	VUS	1 lab	e8552226b8
2:176957822 HOXD13 G>A	2	176957822	176957822	G	A	HOXD13	c.204G>A	NM_000523.3	NP_000514.2:p.(Ala68=)	NC_000002.11:g.176957822G>A	(Likely) benign	1 lab	e8596a36d9
11:56086360 OR8K3 A>G	11	56086360	56086360	A	G	OR8K3	c.578A>G	NM_001005202.1	NP_001005202.1:p.(His193Arg)	NC_000011.9:g.56086360A>G	(Likely) benign	1 lab	e85a62bc6b
1:215916600 USH2A C>T	1	215916600	215916600	C	T	USH2A	c.11467G>A	NM_206933.2	NP_996816.2:p.(Val3823Ile)	NC_000001.10:g.215916600C>T	VUS	1 lab	e85cb55285
5:149495401 PDGFRB C>T	5	149495401	149495401	C	T	PDGFRB	c.3246G>A	NM_002609.3	NP_002600.1:p.(Pro1082=)	NC_000005.9:g.149495401C>T	(Likely) benign	1 lab	e85d84afc9
11:60998961 PGA4 C>T	11	60998961	60998961	C	T	PGA4	c.1125C>T	NM_001079808.3	NP_001073276.1:p.(Phe375=)	NC_000011.9:g.60998961C>T	(Likely) benign	1 lab	e85eee23a1
3:129251264 RHO G>A	3	129251264	129251264	G	A	RHO	c.696+5G>A	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129251264G>A	VUS	1 lab	e85f3495f8
16:81295825 BCO1 C>A	16	81295825	81295825	C	A	BCO1	c.408C>A	NM_017429.2	NP_059125.2:p.(Tyr136Ter)	NC_000016.9:g.81295825C>A	VUS	1 lab	e865874caf
X:153179319 ARHGAP4 G>A	X	153179319	153179319	G	A	ARHGAP4	c.1167C>T	NM_001164741.1	NP_001158213.1:p.(Cys389=)	NC_000023.10:g.153179319G>A	(Likely) benign	1 lab	e86b2be57c
5:66084590 MAST4 G>T	5	66084590	66084590	G	T	MAST4	c.610G>T	NM_001164664.1	NP_001158136.1:p.(Gly204Cys)	NC_000005.9:g.66084590G>T	VUS	1 lab	e86c153e31
19:49477994 GYS1 C>T	19	49477994	49477994	C	T	GYS1	c.1309-4G>A	NM_002103.4	NP_002094.2:p.?	NC_000019.9:g.49477994C>T	(Likely) benign	1 lab	e86de39a58
6:111912939 TRAF3IP2 C>T	6	111912939	111912939	C	T	TRAF3IP2	c.351G>A	NM_001164281.2	NP_001157753.1:p.(Ala117=)	NC_000006.11:g.111912939C>T	(Likely) benign	1 lab	e86e9e83dc
4:8229005 SH3TC1 C>T	4	8229005	8229005	C	T	SH3TC1	c.1584C>T	NM_018986.5	NP_061859.4:p.(Ser528=)	NC_000004.11:g.8229005C>T	(Likely) benign	1 lab	e872850808
3:121514386 IQCB1 G>C	3	121514386	121514386	G	C	IQCB1	c.904C>G	NM_001023570.3	NP_001018864.2:p.(Gln302Glu)	NC_000003.11:g.121514386G>C	VUS	1 lab	e873435255
9:100962535 TBC1D2 C>A	9	100962535	100962535	C	A	TBC1D2	c.2579G>T	NM_001267571.2	NP_001254500.1:p.(Arg860Leu)	NC_000009.11:g.100962535C>A	VUS	1 lab	e8741da457
1:180832890 XPR1 C>T	1	180832890	180832890	C	T	XPR1	c.1548C>T	NM_004736.3	NP_004727.2:p.(Val516=)	NC_000001.10:g.180832890C>T	(Likely) benign	1 lab	e877c958e0
4:15597741 CC2D2A C>T	4	15597741	15597741	C	T	CC2D2A	c.4348C>T	NM_001080522.2	NP_001073991.2:p.(Leu1450=)	NC_000004.11:g.15597741C>T	(Likely) benign	1 lab	e8783c7786
12:57397351 ZBTB39 G>A	12	57397351	57397351	G	A	ZBTB39	c.1351C>T	NM_014830.3	NP_055645.1:p.(Leu451=)	NC_000012.11:g.57397351G>A	(Likely) benign	1 lab	e8791ee9de
2:152357939 NEB T>A	2	152357939	152357939	T	A	NEB	c.24092A>T	NM_001271208.1	NP_001258137.1:p.(Glu8031Val)	NC_000002.11:g.152357939T>A	(Likely) benign	1 lab	e87da21a6a
9:131388248 SPTAN1 C>T	9	131388248	131388248	C	T	SPTAN1	c.6270C>T	NM_001363759.1	NP_001350688.1:p.(His2090=)	NC_000009.11:g.131388248C>T	(Likely) benign	1 lab	e87f195681
17:73758830 GALK1 G>A	17	73758830	73758830	G	A	GALK1	c.748C>T	NM_000154.1	NP_000145.1:p.(Leu250=)	NC_000017.10:g.73758830G>A	(Likely) benign	1 lab	e87f7774c3
16:87723446 JPH3 G>A	16	87723446	87723446	G	A	JPH3	c.1480G>A	NM_020655.3	NP_065706.2:p.(Ala494Thr)	NC_000016.9:g.87723446G>A	(Likely) benign	1 lab	e882525d2d
9:32457151 RIGI A>G	9	32457151	32457151	A	G	RIGI	c.2747T>C	NM_014314.3	NP_055129.2:p.(Ile916Thr)	NC_000009.11:g.32457151A>G	(Likely) benign	1 lab	e882eb8cd9
X:153596078 FLNA G>A	X	153596078	153596078	G	A	FLNA	c.651C>T	NM_001110556.2	NP_001104026.1:p.(Asp217=)	NC_000023.10:g.153596078G>A	(Likely) benign	1 lab	e8840905af
16:5128007 ALG1 G>A	16	5128007	5128007	G	A	ALG1	c.729G>A	NM_019109.4	NP_061982.3:p.(Pro243=)	NC_000016.9:g.5128007G>A	(Likely) benign	1 lab	e885b28a3a
18:21136416 NPC1 C>T	18	21136416	21136416	C	T	NPC1	c.1117G>A	NM_000271.4	NP_000262.2:p.(Val373Ile)	NC_000018.9:g.21136416C>T	(Likely) benign	1 lab	e8860779bd
9:131862893 CRAT C>T	9	131862893	131862893	C	T	CRAT	c.818G>A	NM_004003.3	NP_003994.2:p.(Arg273Lys)	NC_000009.11:g.131862893C>T	VUS	1 lab	e887674cca
10:49986751 WDFY4 C>T	10	49986751	49986751	C	T	WDFY4	c.3271C>T	NM_020945.1	NP_065996.1:p.(Arg1091Cys)	NC_000010.10:g.49986751C>T	VUS	1 lab	e887c4d811
X:9728846 GPR143 C>T	X	9728846	9728846	C	T	GPR143	c.271G>A	NM_000273.2	NP_000264.2:p.(Val91Met)	NC_000023.10:g.9728846C>T	VUS	1 lab	e889e291d2
6:152470654 SYNE1 G>A	6	152470654	152470654	G	A	SYNE1	c.24600C>T	NM_182961.3	NP_892006.3:p.(Phe8200=)	NC_000006.11:g.152470654G>A	(Likely) benign	1 lab	e88ac640da
X:108696799 GUCY2F G>C	X	108696799	108696799	G	C	GUCY2F	c.1322C>G	NM_001522.2	NP_001513.2:p.(Pro441Arg)	NC_000023.10:g.108696799G>C	VUS	1 lab	e88ae008c0
9:139405615 NOTCH1 G>A	9	139405615	139405615	G	A	NOTCH1	c.2576C>T	NM_017617.5	NP_060087.3:p.(Thr859Met)	NC_000009.11:g.139405615G>A	(Likely) benign	1 lab	e88d4251bb
5:147505333 SPINK5 C>T	5	147505333	147505333	C	T	SPINK5	c.2877C>T	NM_001127698.1	NP_001121170.1:p.(Ile959=)	NC_000005.9:g.147505333C>T	(Likely) benign	1 lab	e88f1d4db2
1:235826326 LYST T>A	1	235826326	235826326	T	A	LYST	c.11320A>T	NM_001301365.1	NP_001288294.1:p.(Thr3774Ser)	NC_000001.10:g.235826326T>A	VUS	1 lab	e88f1fafd3
9:135172338 SETX T>C	9	135172338	135172338	T	C	SETX	c.5885A>G	NM_015046.5	NP_055861.3:p.(His1962Arg)	NC_000009.11:g.135172338T>C	(Likely) benign	1 lab	e89095bc46
14:23858207 MYH6 G>A	14	23858207	23858207	G	A	MYH6	c.4036C>T	NM_002471.3	NP_002462.2:p.(Arg1346Trp)	NC_000014.8:g.23858207G>A	VUS	1 lab	e891348769
X:47307978 ZNF41 G>T	X	47307978	47307978	G	T	ZNF41	c.1191C>A	NM_007130.3	NP_009061.1:p.(Asp397Glu)	NC_000023.10:g.47307978G>T	(Likely) benign	1 lab	e8916f402d
2:186655615 FSIP2 G>T	2	186655615	186655615	G	T	FSIP2	c.3752G>T	NM_173651.3	NP_775922.3:p.(Ser1251Ile)	NC_000002.11:g.186655615G>T	VUS	1 lab	e89281c99e
X:1742098 ASMT G>T	X	1742098	1742098	G	T	ASMT	c.136G>T	NM_004043.2	NP_004034.2:p.(Val46Leu)	NC_000023.10:g.1742098G>T	(Likely) benign	1 lab	e892a00706
4:73434423 ADAMTS3 T>C	4	73434423	73434423	T	C	ADAMTS3	c.57A>G	NM_014243.2	NP_055058.2:p.(Ser19=)	NC_000004.11:g.73434423T>C	(Likely) benign	1 lab	e8938d7caa
2:110927579 NPHP1 C>A	2	110927579	110927579	C	A	NPHP1	c.330-4G>T	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110927579C>A	(Likely) benign	1 lab	e89392607b
2:73717160 ALMS1 A>G	2	73717160	73717160	A	G	ALMS1	c.8077A>G	NM_015120.4	NP_055935.4:p.(Lys2693Glu)	NC_000002.11:g.73717160A>G	(Likely) benign	1 lab	e893e829fc
17:37566174 MED1 A>G	17	37566174	37566174	A	G	MED1	c.2300T>C	NM_004774.3	NP_004765.2:p.(Val767Ala)	NC_000017.10:g.37566174A>G	VUS	1 lab	e89466b443
9:100843204 NANS G>A	9	100843204	100843204	G	A	NANS	c.710G>A	NM_018946.3	NP_061819.2:p.(Arg237His)	NC_000009.11:g.100843204G>A	VUS	1 lab	e894986b87
X:153128343 L1CAM G>A	X	153128343	153128343	G	A	L1CAM	c.3549C>T	NM_000425.4	NP_000416.1:p.(Asn1183=)	NC_000023.10:g.153128343G>A	(Likely) benign	1 lab	e896978553
19:50098633 PRR12 C>T	19	50098633	50098633	C	T	PRR12	c.1041C>T	NM_020719.2	NP_065770.1:p.(Ser347=)	NC_000019.9:g.50098633C>T	(Likely) benign	1 lab	e899846db3
6:31934841 SKIC2 A>G	6	31934841	31934841	A	G	SKIC2	c.2401A>G	NM_006929.4	NP_008860.4:p.(Met801Val)	NC_000006.11:g.31934841A>G	(Likely) benign	1 lab	e89acd5b06
1:40775806 COL9A2 C>T	1	40775806	40775806	C	T	COL9A2	c.769G>A	NM_001852.4	NP_001843.1:p.(Ala257Thr)	NC_000001.10:g.40775806C>T	(Likely) benign	1 lab	e89baebe90
8:97156872 GDF6 G>T	8	97156872	97156872	G	T	GDF6	c.1287C>A	NM_001001557.3	NP_001001557.1:p.(Ser429Arg)	NC_000008.10:g.97156872G>T	(Likely) pathogenic	1 lab	e89c3e1ae8
9:139994211 MAN1B1 G>A	9	139994211	139994211	G	A	MAN1B1	c.794G>A	NM_016219.4	NP_057303.2:p.(Arg265His)	NC_000009.11:g.139994211G>A	(Likely) benign	1 lab	e89c74c5c9
17:76490136 DNAH17 C>T	17	76490136	76490136	C	T	DNAH17	c.6390G>A	NM_173628.3	NP_775899.3:p.(Ala2130=)	NC_000017.10:g.76490136C>T	(Likely) benign	1 lab	e89c7e910c
21:37603229 DOP1B C>T	21	37603229	37603229	C	T	DOP1B	c.2147C>T	NM_001320714.1	NP_001307643.1:p.(Ser716Leu)	NC_000021.8:g.37603229C>T	(Likely) benign	1 lab	e89d275034
17:18054142 MYO15A C>G	17	18054142	18054142	C	G	MYO15A	c.7396-8C>G	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18054142C>G	VUS	1 lab	e89df16bb4
10:68940203 CTNNA3 T>A	10	68940203	68940203	T	A	CTNNA3	c.919A>T	NM_013266.3	NP_037398.2:p.(Ile307Phe)	NC_000010.10:g.68940203T>A	VUS	1 lab	e89ebe81e2
4:108578069 PAPSS1 A>G	4	108578069	108578069	A	G	PAPSS1	c.878T>C	NM_005443.5	NP_005434.4:p.(Phe293Ser)	NC_000004.11:g.108578069A>G	VUS	1 lab	e8a13191a6
11:31823419 PAX6 G>A	11	31823419	31823419	G	A	PAX6	c.183C>T	NM_001310158.1	NP_001297087.1:p.(Asn61=)	NC_000011.9:g.31823419G>A	(Likely) benign	1 lab	e8a309885c
6:133804179 EYA4 G>T	6	133804179	133804179	G	T	EYA4	c.1117G>T	NM_004100.4	NP_004091.3:p.(Val373Phe)	NC_000006.11:g.133804179G>T	VUS	1 lab	e8a3844a26
19:41916683 BCKDHA C>T	19	41916683	41916683	C	T	BCKDHA	c.250C>T	NM_000709.3	NP_000700.1:p.(Arg84Trp)	NC_000019.9:g.41916683C>T	VUS	1 lab	e8a44611c7
15:62207998 VPS13C A>G	15	62207998	62207998	A	G	VPS13C	c.8279T>C	NM_001018088.2	NP_001018098.1:p.(Ile2760Thr)	NC_000015.9:g.62207998A>G	(Likely) benign	1 lab	e8a5b64ea3
2:172314576 DCAF17 C>T	2	172314576	172314576	C	T	DCAF17	c.723C>T	NM_025000.3	NP_079276.2:p.(Ile241=)	NC_000002.11:g.172314576C>T	(Likely) benign	1 lab	e8a74f88b4
10:92678871 ANKRD1 A>G	10	92678871	92678871	A	G	ANKRD1	c.345+17T>C	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92678871A>G	(Likely) benign	1 lab	e8a8209b86
15:38591763 SPRED1 A>G	15	38591763	38591763	A	G	SPRED1	c.207+15A>G	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38591763A>G	(Likely) benign	1 lab	e8a86576a2
12:57324019 MISSING T>C	12	57324019	57324019	T	C	MISSING				NC_000012.11:g.57324019T>C	(Likely) pathogenic	1 lab	1fa71d4415
14:95557533 DICER1 A>T	14	95557533	95557533	A	T	DICER1	c.5527+7T>A	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95557533A>T	(Likely) benign	1 lab	e8a8b50101
20:10393429 MKKS CAA>C	20	10393429	10393433	CAA	C	MKKS	c.732_733del	NM_170784.3	NP_740754.1:p.(Phe244LeufsTer10)	NC_000020.10:g.10393432_10393433del	(Likely) pathogenic	1 lab	e8a8c6cb38
12:76741323 BBS10 A>G	12	76741323	76741323	A	G	BBS10	c.442T>C	NM_024685.4	NP_078961.3:p.(Tyr148His)	NC_000012.11:g.76741323A>G	VUS	1 lab	e8a8dec26f
2:110907830 NPHP1 GA>G	2	110907830	110907832	GA	G	NPHP1	c.1086del	NM_001128178.3	NP_001121650.1:p.(Leu363Ter)	NC_000002.11:g.110907832del	(Likely) pathogenic	1 lab	e8a9c5cab1
X:153221831 HCFC1 G>A	X	153221831	153221831	G	A	HCFC1	c.2667C>T	NM_005334.2	NP_005325.2:p.(Thr889=)	NC_000023.10:g.153221831G>A	(Likely) benign	1 lab	e8ab4f0405
1:156084924 LMNA G>A	1	156084924	156084924	G	A	LMNA				NC_000001.10:g.156084924G>A	VUS	1 lab	e8abf973e0
5:140062783 HARS1 G>A	5	140062783	140062783	G	A	HARS1	c.202C>T	NM_001258041.2	NP_001244970.1:p.(Arg68Trp)	NC_000005.9:g.140062783G>A	VUS	1 lab	e8acff7e5a
6:16327927 ATXN1 C>A	6	16327927	16327927	C	A	ATXN1	c.615G>T	NM_000332.3	NP_000323.2:p.(Gln205His)	NC_000006.11:g.16327927C>A	(Likely) benign	1 lab	e8adc6e84d
16:30734011 SRCAP G>A	16	30734011	30734011	G	A	SRCAP	c.3834G>A	NM_006662.2	NP_006653.2:p.(Ser1278=)	NC_000016.9:g.30734011G>A	(Likely) benign	1 lab	e8af38e4fc
3:43618422 ANO10 G>A	3	43618422	43618422	G	A	ANO10	c.924C>T	NM_001204831.2	NP_001191760.1:p.(Tyr308=)	NC_000003.11:g.43618422G>A	(Likely) benign	1 lab	e8b0110299
5:90052790 ADGRV1 T>C	5	90052790	90052790	T	C	ADGRV1	c.11758-6T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90052790T>C	(Likely) benign	1 lab	e8b172f55a
16:50756540 NOD2 G>T	16	50756540	50756540	G	T	NOD2	c.2722G>T	NM_022162.1	NP_071445.1:p.(Gly908Cys)	NC_000016.9:g.50756540G>T	(Likely) benign	1 lab	e8b1fc8772
12:57430867 MYO1A G>T	12	57430867	57430867	G	T	MYO1A	c.2064C>A	NM_001256041.1	NP_001242970.1:p.(Tyr688Ter)	NC_000012.11:g.57430867G>T	VUS	1 lab	e8b20a31a2
1:12423163 VPS13D T>C	1	12423163	12423163	T	C	VPS13D	c.10308T>C	NM_015378.4	NP_056193.2:p.(Leu3436=)	NC_000001.10:g.12423163T>C	(Likely) benign	1 lab	e8b25cea0d
17:29552143 NF1 C>CT	17	29552143	29552149	C	CT	NF1	c.1882dup	NM_000267.3	NP_000258.1:p.(Tyr628LeufsTer6)	NC_000017.10:g.29552149dup	(Likely) pathogenic	1 lab	e8b4c3f159
22:38155279 TRIOBP C>T	22	38155279	38155279	C	T	TRIOBP	c.6324+8C>T	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38155279C>T	(Likely) benign	1 lab	e8b6447f14
X:106844704 FRMPD3 C>T	X	106844704	106844704	C	T	FRMPD3	c.3534C>T	NM_032428.2	NP_115804.1:p.(Pro1178=)	NC_000023.10:g.106844704C>T	(Likely) benign	1 lab	e8b6d2953d
7:27135319 HOXA1 G>A	7	27135319	27135319	G	A	HOXA1	c.213C>T	NM_005522.4	NP_005513.1:p.(His71=)	NC_000007.13:g.27135319G>A	(Likely) benign	1 lab	e8b8966edc
X:135956502 RBMX G>C	X	135956502	135956502	G	C	RBMX	c.975C>G	NM_002139.4	NP_002130.2:p.(Asp325Glu)	NC_000023.10:g.135956502G>C	VUS	1 lab	e8b8bdd799
16:88873609 CDT1 C>T	16	88873609	88873609	C	T	CDT1	c.1273C>T	NM_030928.3	NP_112190.2:p.(Arg425Trp)	NC_000016.9:g.88873609C>T	VUS	1 lab	e8b91c8aef
X:95993598 DIAPH2 C>T	X	95993598	95993598	C	T	DIAPH2	c.179C>T	NM_006729.4	NP_006720.1:p.(Thr60Ile)	NC_000023.10:g.95993598C>T	VUS	1 lab	e8baa40082
4:159627902 ETFDH A>G	4	159627902	159627902	A	G	ETFDH	c.1590A>G	NM_004453.3	NP_004444.2:p.(Glu530=)	NC_000004.11:g.159627902A>G	(Likely) benign	1 lab	e8bb343ce5
6:31930324 SKIC2 G>A	6	31930324	31930324	G	A	SKIC2	c.1173G>A	NM_006929.4	NP_008860.4:p.(Pro391=)	NC_000006.11:g.31930324G>A	(Likely) benign	1 lab	e8bc70fc8b
16:88801467 PIEZO1 G>A	16	88801467	88801467	G	A	PIEZO1	c.1670-6C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88801467G>A	(Likely) benign	1 lab	e8bd8b33b3
2:238243453 COL6A3 G>A	2	238243453	238243453	G	A	COL6A3	c.9045C>T	NM_004369.3	NP_004360.2:p.(Pro3015=)	NC_000002.11:g.238243453G>A	(Likely) benign	1 lab	e8bdf3b259
5:176951861 FAM193B A>T	5	176951861	176951861	A	T	FAM193B	c.1621T>A	NM_001190946.3	NP_001177875.1:p.(Ser541Thr)	NC_000005.9:g.176951861A>T	VUS	1 lab	e8bf3df10b
19:9049655 MUC16 G>A	19	9049655	9049655	G	A	MUC16	c.31976C>T	NM_024690.2	NP_078966.2:p.(Ser10659Leu)	NC_000019.9:g.9049655G>A	(Likely) benign	1 lab	e8c1b15d77
14:105411184 AHNAK2 A>C	14	105411184	105411184	A	C	AHNAK2	c.10604T>G	NM_138420.3	NP_612429.2:p.(Val3535Gly)	NC_000014.8:g.105411184A>C	(Likely) benign	1 lab	e8c1f7d77a
1:237890503 RYR2 G>A	1	237890503	237890503	G	A	RYR2	c.10838+4G>A	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237890503G>A	(Likely) benign	1 lab	e8c57ce3f6
4:187532810 FAT1 A>T	4	187532810	187532810	A	T	FAT1	c.9583T>A	NM_005245.3	NP_005236.2:p.(Tyr3195Asn)	NC_000004.11:g.187532810A>T	VUS	1 lab	e8c7ca6530
2:231042877 SP110 T>C	2	231042877	231042877	T	C	SP110	c.1443A>G	NM_080424.2	NP_536349.2:p.(Lys481=)	NC_000002.11:g.231042877T>C	(Likely) benign	1 lab	e8c7f8e861
7:142460802 PRSS1 G>T	7	142460802	142460802	G	T	PRSS1				NC_000007.13:g.142460802G>T	(Likely) benign	1 lab	e8cacdd4dd
7:42018279 GLI3 TC>T	7	42018279	42018280	TC	T	GLI3	c.1565del	NM_000168.6	NP_000159.3:p.(Arg522LysfsTer13)	NC_000007.13:g.42018280del	(Likely) pathogenic	1 lab	e8cd5ca9e3
1:2234833 SKI G>A	1	2234833	2234833	G	A	SKI	c.1205G>A	NM_003036.3	NP_003027.1:p.(Arg402Gln)	NC_000001.10:g.2234833G>A	VUS	1 lab	e8ce6ca6f0
17:29685583 NF1 C>T	17	29685583	29685583	C	T	NF1	c.7993C>T	NM_000267.3	NP_000258.1:p.(Gln2665Ter)	NC_000017.10:g.29685583C>T	(Likely) pathogenic	1 lab	e8cfebbde4
2:220431736 OBSL1 A>G	2	220431736	220431736	A	G	OBSL1	c.1950T>C	NM_015311.2	NP_056126.1:p.(Asn650=)	NC_000002.11:g.220431736A>G	(Likely) benign	1 lab	e8d07cbff9
5:89925043 ADGRV1 A>G	5	89925043	89925043	A	G	ADGRV1	c.1526A>G	NM_032119.4	NP_115495.3:p.(Gln509Arg)	NC_000005.9:g.89925043A>G	VUS	1 lab	e8d2a986c8
19:3772153 RAX2 G>A	19	3772153	3772153	G	A	RAX2	c.-131+8C>T	NM_001319074.1	NP_001306003.1:p.?	NC_000019.9:g.3772153G>A	VUS	1 lab	ea177d0c8f
15:86122619 AKAP13 C>A	15	86122619	86122619	C	A	AKAP13	c.1320C>A	NM_006738.5	NP_006729.4:p.(Ser440Arg)	NC_000015.9:g.86122619C>A	VUS	1 lab	e8d305430c
9:712035 KANK1 G>C	9	712035	712035	G	C	KANK1	c.1269G>C	NM_001256877.2	NP_001243806.1:p.(Lys423Asn)	NC_000009.11:g.712035G>C	(Likely) benign	1 lab	e8d348d1e5
3:195507169 MUC4 A>G	3	195507169	195507169	A	G	MUC4	c.11282T>C	NM_018406.6	NP_060876.5:p.(Leu3761Pro)	NC_000003.11:g.195507169A>G	VUS	1 lab	e8d5532401
1:152283373 FLG C>A	1	152283373	152283373	C	A	FLG	c.3989G>T	NM_002016.1	NP_002007.1:p.(Gly1330Val)	NC_000001.10:g.152283373C>A	(Likely) benign	1 lab	e8d5b3ce53
3:12633259 RAF1 C>T	3	12633259	12633259	C	T	RAF1	c.1141G>A	NM_002880.3	NP_002871.1:p.(Asp381Asn)	NC_000003.11:g.12633259C>T	(Likely) benign	1 lab	e8d5f5cff1
2:166930052 SCN1A C>G	2	166930052	166930052	C	G	SCN1A	c.80G>C	NM_001165963.2	NP_001159435.1:p.(Arg27Thr)	NC_000002.11:g.166930052C>G	(Likely) benign	1 lab	e8d6108ee6
1:248059189 OR2W3 C>A	1	248059189	248059189	C	A	OR2W3	c.301C>A	NM_001001957.2	NP_001001957.2:p.(Leu101Ile)	NC_000001.10:g.248059189C>A	VUS	1 lab	e8d7391181
14:21792951 RPGRIP1 G>A	14	21792951	21792951	G	A	RPGRIP1	c.1937G>A	NM_020366.3	NP_065099.3:p.(Gly646Glu)	NC_000014.8:g.21792951G>A	VUS	1 lab	e8dc5214b2
6:144768370 UTRN C>T	6	144768370	144768370	C	T	UTRN	c.1638C>T	NM_007124.2	NP_009055.2:p.(Thr546=)	NC_000006.11:g.144768370C>T	(Likely) benign	1 lab	e8dc969ed2
8:68346293 CPA6 T>C	8	68346293	68346293	T	C	CPA6	c.1021A>G	NM_020361.4	NP_065094.3:p.(Ile341Val)	NC_000008.10:g.68346293T>C	(Likely) benign	1 lab	e8dcd083df
X:153578063 FLNA G>A	X	153578063	153578063	G	A	FLNA	c.7506C>T	NM_001110556.2	NP_001104026.1:p.(Gly2502=)	NC_000023.10:g.153578063G>A	(Likely) benign	1 lab	e8ddc325cf
X:119694355 CUL4B T>C	X	119694355	119694355	T	C	CUL4B	c.193A>G	NM_003588.3	NP_003579.3:p.(Ser65Gly)	NC_000023.10:g.119694355T>C	VUS	1 lab	e8de66e054
X:49105152 CCDC22 C>G	X	49105152	49105152	C	G	CCDC22	c.1388C>G	NM_014008.4	NP_054727.1:p.(Ala463Gly)	NC_000023.10:g.49105152C>G	(Likely) benign	1 lab	e8df66329d
8:100865752 VPS13B C>T	8	100865752	100865752	C	T	VPS13B	c.10210C>T	NM_017890.4	NP_060360.3:p.(His3404Tyr)	NC_000008.10:g.100865752C>T	(Likely) benign	1 lab	e8e49261dc
19:9005620 MUC16 C>G	19	9005620	9005620	C	G	MUC16	c.39786G>C	NM_024690.2	NP_078966.2:p.(Leu13262=)	NC_000019.9:g.9005620C>G	(Likely) benign	1 lab	e8e497f983
9:126133803 CRB2 C>T	9	126133803	126133803	C	T	CRB2	c.2382C>T	NM_173689.6	NP_775960.4:p.(Gly794=)	NC_000009.11:g.126133803C>T	(Likely) benign	1 lab	e8e4de356d
5:1422009 SLC6A3 G>A	5	1422009	1422009	G	A	SLC6A3	c.774C>T	NM_001044.4	NP_001035.1:p.(Gly258=)	NC_000005.9:g.1422009G>A	VUS	1 lab	e8e4f7c0bd
12:111020836 PPTC7 T>TCGC	12	111020836	111020849	T	TCGC	PPTC7	c.-1_1insGCG	NM_139283.2	NP_644812.1:p.(Met1?)	NC_000012.11:g.111020847_111020849dup	(Likely) benign	1 lab	e8e6ef1db8
4:128812331 PLK4 A>G	4	128812331	128812331	A	G	PLK4	c.1915A>G	NM_014264.4	NP_055079.3:p.(Ile639Val)	NC_000004.11:g.128812331A>G	VUS	1 lab	e8e7c30739
12:133215864 POLE A>ACG	12	133215864	133215866	A	ACG	POLE	c.5397_5398dup	NM_006231.3	NP_006222.2:p.(Val1800AlafsTer5)	NC_000012.11:g.133215865_133215866dup	(Likely) pathogenic	1 lab	e8ea650a8c
1:47716889 STIL C>T	1	47716889	47716889	C	T	STIL	c.3786G>A	NM_001048166.1	NP_001041631.1:p.(Thr1262=)	NC_000001.10:g.47716889C>T	(Likely) benign	1 lab	e8eaa0cffd
22:25016462 GGT1 G>A	22	25016462	25016462	G	A	GGT1	c.550G>A	NM_001288833.2	NP_001275762.1:p.(Val184Ile)	NC_000022.10:g.25016462G>A	(Likely) benign	1 lab	e8eac6d72f
1:114438612 AP4B1 C>T	1	114438612	114438612	C	T	AP4B1	c.1559G>A	NM_006594.4	NP_006585.2:p.(Arg520His)	NC_000001.10:g.114438612C>T	VUS	1 lab	e8eb5b0c60
9:135201911 SETX A>G	9	135201911	135201911	A	G	SETX	c.5074T>C	NM_001351527.1	NP_001338456.1:p.(Leu1692=)	NC_000009.11:g.135201911A>G	(Likely) benign	1 lab	e8ed0b1811
11:17113732 PIK3C2A T>A	11	17113732	17113732	T	A	PIK3C2A	c.4543A>T	NM_001321378.1	NP_001308307.1:p.(Met1515Leu)	NC_000011.9:g.17113732T>A	(Likely) benign	1 lab	e8edc50d1b
4:79204131 FRAS1 T>C	4	79204131	79204131	T	C	FRAS1	c.1255+10T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79204131T>C	(Likely) benign	1 lab	e8f0132ade
14:102964011 TECPR2 G>A	14	102964011	102964011	G	A	TECPR2	c.4036G>A	NM_014844.4	NP_055659.2:p.(Gly1346Arg)	NC_000014.8:g.102964011G>A	VUS	1 lab	e8f02b3483
1:201172920 IGFN1 C>T	1	201172920	201172920	C	T	IGFN1	c.802C>T	NM_001164586.1	NP_001158058.1:p.(Arg268Trp)	NC_000001.10:g.201172920C>T	VUS	1 lab	e8f14db916
18:43440293 EPG5 C>A	18	43440293	43440293	C	A	EPG5	c.6785G>T	NM_020964.3	NP_066015.2:p.(Arg2262Leu)	NC_000018.9:g.43440293C>A	VUS	1 lab	e8f2c7107f
14:95574847 DICER1 T>C	14	95574847	95574847	T	C	DICER1	c.2257-7A>G	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95574847T>C	VUS	1 lab	e8f34410c7
2:172325472 DCAF17 A>G	2	172325472	172325472	A	G	DCAF17	c.913A>G	NM_025000.3	NP_079276.2:p.(Ile305Val)	NC_000002.11:g.172325472A>G	VUS	1 lab	e8f6460c9e
8:145584510 SLC52A2 G>A	8	145584510	145584510	G	A	SLC52A2	c.1173G>A	NM_024531.4	NP_078807.1:p.(Val391=)	NC_000008.10:g.145584510G>A	(Likely) benign	1 lab	e8f6866cc3
11:67926255 KMT5B T>C	11	67926255	67926255	T	C	KMT5B	c.1042A>G	NM_001300907.1	NP_001287836.1:p.(Asn348Asp)	NC_000011.9:g.67926255T>C	VUS	1 lab	e8f7420286
3:93758795 ARL13B C>CGAAT	3	93758795	93758799	C	CGAAT	ARL13B	c.762_765dup	NM_001174150.1	NP_001167621.1:p.(Pro256GlufsTer12)	NC_000003.11:g.93758796_93758799dup	VUS	1 lab	e8f7c571a4
10:30602644 MTPAP T>G	10	30602644	30602644	T	G	MTPAP	c.1643A>C	NM_018109.3	NP_060579.3:p.(Lys548Thr)	NC_000010.10:g.30602644T>G	(Likely) benign	1 lab	e8f8bead5e
2:149840139 KIF5C A>G	2	149840139	149840139	A	G	KIF5C	c.1575A>G	NM_004522.3	NP_004513.1:p.(Thr525=)	NC_000002.11:g.149840139A>G	(Likely) benign	1 lab	e8f9051098
6:42162376 GUCA1B C>T	6	42162376	42162376	C	T	GUCA1B	c.183G>A	NM_002098.5	NP_002089.4:p.(Met61Ile)	NC_000006.11:g.42162376C>T	(Likely) benign	1 lab	e8fc19a633
3:148920020 CP G>T	3	148920020	148920020	G	T	CP	c.1217C>A	NM_000096.3	NP_000087.1:p.(Ala406Glu)	NC_000003.11:g.148920020G>T	(Likely) benign	1 lab	e901fa8eb9
22:51020748 CHKB G>A	22	51020748	51020748	G	A	CHKB	c.263C>T	NM_005198.4	NP_005189.2:p.(Pro88Leu)	NC_000022.10:g.51020748G>A	VUS	1 lab	e90205e8b4
16:88500980 ZNF469 G>A	16	88500980	88500980	G	A	ZNF469				NC_000016.9:g.88500980G>A	VUS	1 lab	e902185c88
X:8522081 ANOS1 T>C	X	8522081	8522081	T	C	ANOS1	c.1266A>G	NM_000216.3	NP_000207.2:p.(Arg422=)	NC_000023.10:g.8522081T>C	(Likely) benign	1 lab	e90293a54a
X:32364051 DMD C>T	X	32364051	32364051	C	T	DMD	c.5217+9G>A	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32364051C>T	(Likely) benign	1 lab	e902a2c36a
1:162729634 DDR2 C>T	1	162729634	162729634	C	T	DDR2	c.720C>T	NM_006182.4	NP_006173.2:p.(Asp240=)	NC_000001.10:g.162729634C>T	(Likely) benign	1 lab	e9033b87eb
5:159437536 TTC1 A>G	5	159437536	159437536	A	G	TTC1	c.1A>G	NM_003314.3	NP_003305.1:p.(Met1?)	NC_000005.9:g.159437536A>G	VUS	1 lab	e9034b6a08
3:4776858 ITPR1 C>T	3	4776858	4776858	C	T	ITPR1	c.5220C>T	NM_001099952.2	NP_001093422.2:p.(Ser1740=)	NC_000003.11:g.4776858C>T	(Likely) benign	1 lab	e9036df57f
12:49420935 KMT2D G>A	12	49420935	49420935	G	A	KMT2D	c.14814C>T	NM_003482.3	NP_003473.3:p.(Thr4938=)	NC_000012.11:g.49420935G>A	(Likely) benign	1 lab	e904e34da1
19:10259604 DNMT1 G>A	19	10259604	10259604	G	A	DNMT1	c.2676C>T	NM_001130823.1	NP_001124295.1:p.(Phe892=)	NC_000019.9:g.10259604G>A	(Likely) benign	1 lab	e9098fbb20
3:71026150 FOXP1 A>T	3	71026150	71026150	A	T	FOXP1	c.1469T>A	NM_001244808.1	NP_001231737.1:p.(Ile490Asn)	NC_000003.11:g.71026150A>T	(Likely) pathogenic	1 lab	e90d272727
1:215847970 USH2A C>T	1	215847970	215847970	C	T	USH2A	c.13283G>A	NM_206933.2	NP_996816.2:p.(Gly4428Asp)	NC_000001.10:g.215847970C>T	VUS	1 lab	e90d546bd7
16:1616256 IFT140 C>T	16	1616256	1616256	C	T	IFT140	c.1807G>A	NM_014714.3	NP_055529.2:p.(Asp603Asn)	NC_000016.9:g.1616256C>T	VUS	1 lab	e90da24174
2:174946755 OLA1 G>A	2	174946755	174946755	G	A	OLA1	c.766C>T	NM_013341.4	NP_037473.3:p.(Pro256Ser)	NC_000002.11:g.174946755G>A	VUS	1 lab	e90f317cd9
1:236201522 NID1 C>T	1	236201522	236201522	C	T	NID1	c.1167G>A	NM_002508.2	NP_002499.2:p.(Thr389=)	NC_000001.10:g.236201522C>T	(Likely) benign	1 lab	e90fad9d29
X:73960648 NEXMIF G>T	X	73960648	73960648	G	T	NEXMIF	c.3744C>A	NM_001008537.2	NP_001008537.1:p.(Thr1248=)	NC_000023.10:g.73960648G>T	(Likely) benign	1 lab	e911b3097f
16:2108852 TSC2 CTG>C	16	2108852	2108857	CTG	C	TSC2	c.957_958del	NM_000548.5	NP_000539.2:p.(Leu320AlafsTer17)	NC_000016.9:g.2108856_2108857del	(Likely) pathogenic	1 lab	e91319efba
17:79477716 ACTG1 T>C	17	79477716	79477716	T	C	ACTG1	c.1128A>G	NM_001199954.2	NP_001186883.1:p.(Ter376=)	NC_000017.10:g.79477716T>C	(Likely) benign	1 lab	e913dd288c
19:3771688 RAX2 G>A	19	3771688	3771688	G	A	RAX2	c.191C>T	NM_001319074.1	NP_001306003.1:p.(Pro64Leu)	NC_000019.9:g.3771688G>A	VUS	1 lab	e916bb4700
X:66905871 AR C>T	X	66905871	66905871	C	T	AR	c.1788C>T	NM_000044.4	NP_000035.2:p.(Cys596=)	NC_000023.10:g.66905871C>T	(Likely) benign	1 lab	e9179b0dcc
1:215848017 USH2A C>T	1	215848017	215848017	C	T	USH2A	c.13236G>A	NM_206933.2	NP_996816.2:p.(Gln4412=)	NC_000001.10:g.215848017C>T	(Likely) benign	1 lab	e918270d02
11:6566210 DNHD1 C>T	11	6566210	6566210	C	T	DNHD1	c.4041C>T	NM_144666.2	NP_653267.2:p.(Ser1347=)	NC_000011.9:g.6566210C>T	(Likely) benign	1 lab	e918594284
5:131007983 FNIP1 T>C	5	131007983	131007983	T	C	FNIP1	c.2154A>G	NM_133372.3	NP_588613.3:p.(Thr718=)	NC_000005.9:g.131007983T>C	(Likely) benign	1 lab	e9191dee38
7:6543175 GRID2IP C>T	7	6543175	6543175	C	T	GRID2IP	c.2854G>A	NM_001145118.1	NP_001138590.1:p.(Ala952Thr)	NC_000007.13:g.6543175C>T	(Likely) benign	1 lab	e91a5b6c79
17:29562682 NF1 C>A	17	29562682	29562682	C	A	NF1	c.3762C>A	NM_000267.3	NP_000258.1:p.(Tyr1254Ter)	NC_000017.10:g.29562682C>A	(Likely) pathogenic	1 lab	e91a74ad02
8:48749844 PRKDC C>T	8	48749844	48749844	C	T	PRKDC	c.7690G>A	NM_006904.6	NP_008835.5:p.(Glu2564Lys)	NC_000008.10:g.48749844C>T	VUS	1 lab	e91a9a45ff
22:38165043 TRIOBP T>C	22	38165043	38165043	T	C	TRIOBP	c.6584T>C	NM_001039141.2	NP_001034230.1:p.(Val2195Ala)	NC_000022.10:g.38165043T>C	VUS	1 lab	e91cd914cb
12:29464045 FAR2 A>C	12	29464045	29464045	A	C	FAR2	c.853A>C	NM_018099.4	NP_060569.3:p.(Met285Leu)	NC_000012.11:g.29464045A>C	(Likely) benign	1 lab	e91d0fed7e
21:44840296 SIK1 C>T	21	44840296	44840296	C	T	SIK1	c.790G>A	NM_173354.4	NP_775490.2:p.(Ala264Thr)	NC_000021.8:g.44840296C>T	(Likely) benign	1 lab	e91e9c4f74
4:183721107 TENM3 G>A	4	183721107	183721107	G	A	TENM3	c.7703G>A	NM_001080477.3	NP_001073946.1:p.(Arg2568His)	NC_000004.11:g.183721107G>A	(Likely) benign	1 lab	e91ee45b55
11:73843984 C2CD3 G>A	11	73843984	73843984	G	A	C2CD3	c.1122C>T	NM_001286577.1	NP_001273506.1:p.(Asp374=)	NC_000011.9:g.73843984G>A	(Likely) benign	1 lab	e92121ca09
10:103921973 NOLC1 C>T	10	103921973	103921973	C	T	NOLC1	c.2077C>T	NM_001284388.1	NP_001271317.1:p.(Arg693Trp)	NC_000010.10:g.103921973C>T	VUS	1 lab	e922930012
9:35657957 RMRP A>AT	9	35657957	35657958	A	AT	RMRP	n.58_59insA	NR_003051.3		NC_000009.11:g.35657957_35657958insT	VUS	1 lab	e922a864fe
X:152686628 ZFP92 G>A	X	152686628	152686628	G	A	ZFP92	c.793G>A	NM_001136273.1	NP_001129745.1:p.(Ala265Thr)	NC_000023.10:g.152686628G>A	VUS	1 lab	e9243d7198
20:44592204 ZNF335 G>A	20	44592204	44592204	G	A	ZNF335	c.1441C>T	NM_022095.3	NP_071378.1:p.(Arg481Cys)	NC_000020.10:g.44592204G>A	(Likely) benign	1 lab	e926b1788f
22:36688022 MYH9 G>A	22	36688022	36688022	G	A	MYH9	c.4344+10C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36688022G>A	(Likely) benign	1 lab	e928e0464a
8:41791793 KAT6A G>A	8	41791793	41791793	G	A	KAT6A	c.3945C>T	NM_006766.4	NP_006757.2:p.(Asp1315=)	NC_000008.10:g.41791793G>A	(Likely) benign	1 lab	e929b1de5d
11:68702803 IGHMBP2 C>G	11	68702803	68702803	C	G	IGHMBP2	c.1669C>G	NM_002180.2	NP_002171.2:p.(Pro557Ala)	NC_000011.9:g.68702803C>G	(Likely) benign	1 lab	e929dd0074
11:57480232 TMX2 G>C	11	57480232	57480232	G	C	TMX2	c.142G>C	NM_015959.4	NP_057043.1:p.(Gly48Arg)	NC_000011.9:g.57480232G>C	(Likely) benign	1 lab	e92baab7fe
20:34092435 CEP250 C>G	20	34092435	34092435	C	G	CEP250	c.6238C>G	NM_007186.5	NP_009117.2:p.(Leu2080Val)	NC_000020.10:g.34092435C>G	VUS	1 lab	e92c8be6b7
10:101611277 ABCC2 C>T	10	101611277	101611277	C	T	ABCC2	c.4527C>T	NM_000392.5	NP_000383.2:p.(Asn1509=)	NC_000010.10:g.101611277C>T	(Likely) benign	1 lab	e92d25c06b
11:73744645 C2CD3 C>T	11	73744645	73744645	C	T	C2CD3	c.6560G>A	NM_001286577.1	NP_001273506.1:p.(Ser2187Asn)	NC_000011.9:g.73744645C>T	(Likely) benign	1 lab	e92dc9d412
12:39751191 KIF21A A>G	12	39751191	39751191	A	G	KIF21A	c.1264T>C	NM_001173464.1	NP_001166935.1:p.(Phe422Leu)	NC_000012.11:g.39751191A>G	VUS	1 lab	e92ed3c72c
X:64749566 LAS1L G>C	X	64749566	64749566	G	C	LAS1L	c.707C>G	NM_031206.4	NP_112483.1:p.(Thr236Arg)	NC_000023.10:g.64749566G>C	(Likely) benign	1 lab	e93014e420
11:64428340 NRXN2 C>T	11	64428340	64428340	C	T	NRXN2	c.2070G>A	NM_015080.3	NP_055895.1:p.(Thr690=)	NC_000011.9:g.64428340C>T	(Likely) benign	1 lab	e9302bfd91
11:103093816 DYNC2H1 G>A	11	103093816	103093816	G	A	DYNC2H1	c.9353+1G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103093816G>A	(Likely) pathogenic	1 lab	e9302d276d
1:181767812 LOC126805943 C>T	1	181767812	181767812	C	T	LOC126805943				NC_000001.10:g.181767812C>T	VUS	1 lab	e931345912
5:112399697 MCC A>T	5	112399697	112399697	A	T	MCC	c.2197T>A	NM_001085377.1	NP_001078846.1:p.(Ser733Thr)	NC_000005.9:g.112399697A>T	VUS	1 lab	e93143ac6d
1:1407283 ATAD3B G>A	1	1407283	1407283	G	A	ATAD3B	c.19G>A	NM_031921.5	NP_114127.3:p.(Val7Ile)	NC_000001.10:g.1407283G>A	(Likely) benign	1 lab	e9317b7ec7
9:94485928 ROR2 C>T	9	94485928	94485928	C	T	ROR2				NC_000009.11:g.94485928C>T	(Likely) benign	1 lab	4d4fb27142
15:28474911 HERC2 G>A	15	28474911	28474911	G	A	HERC2	c.4892C>T	NM_004667.5	NP_004658.3:p.(Pro1631Leu)	NC_000015.9:g.28474911G>A	VUS	1 lab	e9318a4e74
9:71668197 FXN T>C	9	71668197	71668197	T	C	FXN	c.384+21T>C	NM_000144.4	NP_000135.2:p.?	NC_000009.11:g.71668197T>C	(Likely) benign	1 lab	e93191dc48
11:118917496 HYOU1 G>C	11	118917496	118917496	G	C	HYOU1	c.2614C>G	NM_006389.5	NP_006380.1:p.(Leu872Val)	NC_000011.9:g.118917496G>C	(Likely) benign	1 lab	e9331ebb03
7:103143606 RELN G>A	7	103143606	103143606	G	A	RELN	c.8346C>T	NM_005045.3	NP_005036.2:p.(Phe2782=)	NC_000007.13:g.103143606G>A	(Likely) benign	1 lab	e9333a62d6
15:62147087 VPS13C C>A	15	62147087	62147087	C	A	VPS13C	c.11143G>T	NM_020821.2	NP_065872.1:p.(Asp3715Tyr)	NC_000015.9:g.62147087C>A	VUS	1 lab	e93368dbd1
16:3900919 CREBBP A>T	16	3900919	3900919	A	T	CREBBP	c.177T>A	NM_004380.2	NP_004371.2:p.(Leu59=)	NC_000016.9:g.3900919A>T	(Likely) benign	1 lab	e9336d10d0
12:56118322 RDH5 T>C	12	56118322	56118322	T	C	RDH5	c.950T>C	NM_001199771.1	NP_001186700.1:p.(Val317Ala)	NC_000012.11:g.56118322T>C	VUS	1 lab	e936de9acb
13:28597486 FLT3 C>G	13	28597486	28597486	C	G	FLT3	c.2418+1G>C	NM_004119.2	NP_004110.2:p.?	NC_000013.10:g.28597486C>G	VUS	1 lab	e937dc93d6
X:41206109 DDX3X T>C	X	41206109	41206109	T	C	DDX3X	c.1058-3T>C	NM_001363819.1	NP_001350748.1:p.?	NC_000023.10:g.41206109T>C	(Likely) benign	1 lab	e9395560e7
1:9099920 SLC2A5 C>A	1	9099920	9099920	C	A	SLC2A5	c.824G>T	NM_003039.2	NP_003030.1:p.(Arg275Leu)	NC_000001.10:g.9099920C>A	VUS	1 lab	e939d2dca0
16:2546750 TBC1D24 G>A	16	2546750	2546750	G	A	TBC1D24	c.601G>A	NM_001199107.1	NP_001186036.1:p.(Val201Met)	NC_000016.9:g.2546750G>A	VUS	1 lab	e93a00c01a
1:152280779 FLG C>T	1	152280779	152280779	C	T	FLG	c.6583G>A	NM_002016.1	NP_002007.1:p.(Asp2195Asn)	NC_000001.10:g.152280779C>T	(Likely) benign	1 lab	e93d828d7c
X:18668577 CDKL5 G>A	X	18668577	18668577	G	A	CDKL5	c.2845G>A	NM_003159.2	NP_003150.1:p.(Val949Ile)	NC_000023.10:g.18668577G>A	(Likely) benign	1 lab	e93dd67d15
5:70922571 MCCC2 A>AC	5	70922571	70922577	A	AC	MCCC2	c.735dup	NM_022132.4	NP_071415.1:p.(Val247GlyfsTer2)	NC_000005.9:g.70922577dup	(Likely) pathogenic	1 lab	e93e3715f0
2:233712227 GIGYF2 A>G	2	233712227	233712227	A	G	GIGYF2	c.3693A>G	NM_001103147.1	NP_001096617.1:p.(Pro1231=)	NC_000002.11:g.233712227A>G	(Likely) benign	1 lab	e93e660346
1:152279117 FLG C>G	1	152279117	152279117	C	G	FLG	c.8245G>C	NM_002016.1	NP_002007.1:p.(Glu2749Gln)	NC_000001.10:g.152279117C>G	(Likely) benign	1 lab	e93f5b1741
16:57697513 ADGRG1 C>A	16	57697513	57697513	C	A	ADGRG1	c.*19C>A	NM_005682.6	NP_005673.3:p.?	NC_000016.9:g.57697513C>A	(Likely) benign	1 lab	e940328fe5
X:24073785 EIF2S3 A>G	X	24073785	24073785	A	G	EIF2S3	c.123A>G	NM_001415.3	NP_001406.1:p.(Thr41=)	NC_000023.10:g.24073785A>G	(Likely) benign	1 lab	e943883cd9
X:70387060 NLGN3 C>T	X	70387060	70387060	C	T	NLGN3	c.1113C>T	NM_181303.1	NP_851820.1:p.(His371=)	NC_000023.10:g.70387060C>T	(Likely) benign	1 lab	e943dea769
19:38573183 SIPA1L3 C>G	19	38573183	38573183	C	G	SIPA1L3	c.978C>G	NM_015073.2	NP_055888.1:p.(Ser326Arg)	NC_000019.9:g.38573183C>G	(Likely) benign	1 lab	e9442d2779
3:148858863 HPS3 C>T	3	148858863	148858863	C	T	HPS3	c.772C>T	NM_032383.4	NP_115759.2:p.(Leu258=)	NC_000003.11:g.148858863C>T	(Likely) benign	1 lab	e945447e31
7:30878841 MINDY4 C>T	7	30878841	30878841	C	T	MINDY4	c.1265C>T	NM_032222.3	NP_115598.2:p.(Ser422Phe)	NC_000007.13:g.30878841C>T	VUS	1 lab	e946310b8d
17:5445183 NLRP1 C>T	17	5445183	5445183	C	T	NLRP1	c.2693G>A	NM_033004.4	NP_127497.1:p.(Arg898Gln)	NC_000017.10:g.5445183C>T	(Likely) benign	1 lab	e9466e6f91
9:135787790 TSC1 CAG>C	9	135787790	135787797	CAG	C	TSC1	c.790_791del	NM_000368.5	NP_000359.1:p.(Leu264GlyfsTer8)	NC_000009.11:g.135787796_135787797del	(Likely) pathogenic	1 lab	e946ea4245
8:10470516 RP1L1 G>C	8	10470516	10470516	G	C	RP1L1	c.1092C>G	NM_178857.5	NP_849188.4:p.(Pro364=)	NC_000008.10:g.10470516G>C	(Likely) benign	1 lab	e9482feb30
11:71720412 NUMA1 C>T	11	71720412	71720412	C	T	NUMA1	c.4699G>A	NM_001286561.1	NP_001273490.1:p.(Glu1567Lys)	NC_000011.9:g.71720412C>T	VUS	1 lab	e9486757df
20:43252979 ADA G>A	20	43252979	43252979	G	A	ADA	c.479-9C>T	NM_000022.2	NP_000013.2:p.?	NC_000020.10:g.43252979G>A	(Likely) benign	1 lab	e94909835e
3:51429147 RBM15B C>T	3	51429147	51429147	C	T	RBM15B	c.317C>T	NM_013286.5	NP_037418.3:p.(Ser106Phe)	NC_000003.11:g.51429147C>T	VUS	1 lab	e94931cb67
1:160303443 COPA G>A	1	160303443	160303443	G	A	COPA	c.336C>T	NM_001098398.2	NP_001091868.1:p.(Ser112=)	NC_000001.10:g.160303443G>A	(Likely) benign	1 lab	e949e07835
8:141297789 TRAPPC9 C>T	8	141297789	141297789	C	T	TRAPPC9	c.2193G>A	NM_031466.6	NP_113654.4:p.(Ala731=)	NC_000008.10:g.141297789C>T	(Likely) benign	1 lab	e94a2399d5
8:38275777 FGFR1 C>T	8	38275777	38275777	C	T	FGFR1	c.1369G>A	NM_001174064.1	NP_001167535.1:p.(Glu457Lys)	NC_000008.10:g.38275777C>T	VUS	1 lab	e94a575057
6:152847292 SYNE1 C>A	6	152847292	152847292	C	A	SYNE1	c.148G>T	NM_182961.3	NP_892006.3:p.(Val50Leu)	NC_000006.11:g.152847292C>A	VUS	1 lab	e94c80d4ee
X:16870710 RBBP7 G>C	X	16870710	16870710	G	C	RBBP7	c.927C>G	NM_002893.3	NP_002884.1:p.(Leu309=)	NC_000023.10:g.16870710G>C	(Likely) benign	1 lab	e94e77d2e4
15:63335948 TPM1 C>T	15	63335948	63335948	C	T	TPM1	c.158C>T	NM_001018020.1	NP_001018020.1:p.(Ser53Leu)	NC_000015.9:g.63335948C>T	VUS	1 lab	e94ecc1fb7
11:1274130 MUC5B A>G	11	1274130	1274130	A	G	MUC5B	c.15137A>G	NM_002458.2	NP_002449.2:p.(Asn5046Ser)	NC_000011.9:g.1274130A>G	(Likely) benign	1 lab	e94f7e9036
7:128490031 FLNC C>T	7	128490031	128490031	C	T	FLNC	c.5201C>T	NM_001458.4	NP_001449.3:p.(Ala1734Val)	NC_000007.13:g.128490031C>T	VUS	1 lab	e9500b3eb6
2:186655232 FSIP2 C>T	2	186655232	186655232	C	T	FSIP2	c.3369C>T	NM_173651.3	NP_775922.3:p.(Ser1123=)	NC_000002.11:g.186655232C>T	(Likely) benign	1 lab	e95312c461
3:25835983 OXSM T>C	3	25835983	25835983	T	C	OXSM	c.1378T>C	NM_017897.3	NP_060367.1:p.(Ter460GlnextTer3)	NC_000003.11:g.25835983T>C	(Likely) benign	1 lab	e9537589e7
4:186423655 PDLIM3 G>A	4	186423655	186423655	G	A	PDLIM3				NC_000004.11:g.186423655G>A	(Likely) benign	1 lab	35102cc2d0
8:145003994 PLEC G>A	8	145003994	145003994	G	A	PLEC	c.3154C>T	NM_201380.3	NP_958782.1:p.(Arg1052Cys)	NC_000008.10:g.145003994G>A	VUS	1 lab	e9555f64d1
X:30237625 MAGEB2 G>A	X	30237625	30237625	G	A	MAGEB2	c.928G>A	NM_002364.4	NP_002355.2:p.(Ala310Thr)	NC_000023.10:g.30237625G>A	VUS	1 lab	e9557ad694
9:139333286 INPP5E C>A	9	139333286	139333286	C	A	INPP5E	c.586G>T	NM_019892.5	NP_063945.2:p.(Ala196Ser)	NC_000009.11:g.139333286C>A	(Likely) benign	1 lab	e956c41352
17:29592291 NF1 T>A	17	29592291	29592291	T	A	NF1	c.4706T>A	NM_000267.3	NP_000258.1:p.(Leu1569Ter)	NC_000017.10:g.29592291T>A	(Likely) pathogenic	1 lab	e9574468e1
5:138456730 SIL1 G>T	5	138456730	138456730	G	T	SIL1	c.238C>A	NM_001037633.1	NP_001032722.1:p.(Gln80Lys)	NC_000005.9:g.138456730G>T	(Likely) benign	1 lab	e957d8f2ce
12:22028599 ABCC9 C>T	12	22028599	22028599	C	T	ABCC9	c.2081G>A	NM_020297.2	NP_064693.2:p.(Arg694Gln)	NC_000012.11:g.22028599C>T	(Likely) benign	1 lab	e958dfe002
19:9073855 MUC16 T>A	19	9073855	9073855	T	A	MUC16	c.13591A>T	NM_024690.2	NP_078966.2:p.(Ile4531Phe)	NC_000019.9:g.9073855T>A	VUS	1 lab	e95902cfdd
6:144263781 PLAGL1 G>A	6	144263781	144263781	G	A	PLAGL1	c.172C>T	NM_001289045.1	NP_001275974.1:p.(Pro58Ser)	NC_000006.11:g.144263781G>A	VUS	1 lab	e95974e6ea
7:1543576 INTS1 G>A	7	1543576	1543576	G	A	INTS1	c.21C>T	NM_001080453.3	NP_001073922.2:p.(Thr7=)	NC_000007.13:g.1543576G>A	(Likely) benign	1 lab	e95b8fd401
5:169533279 FOXI1 C>G	5	169533279	169533279	C	G	FOXI1	c.318C>G	NM_012188.4	NP_036320.2:p.(Asp106Glu)	NC_000005.9:g.169533279C>G	(Likely) benign	1 lab	e95c2ead9c
16:89799952 ZNF276 C>G	16	89799952	89799952	C	G	ZNF276	c.1343C>G	NM_001113525.2	NP_001106997.1:p.(Ala448Gly)	NC_000016.9:g.89799952C>G	VUS	1 lab	e95c322881
18:7036033 LAMA1 C>G	18	7036033	7036033	C	G	LAMA1	c.1792G>C	NM_005559.3	NP_005550.2:p.(Glu598Gln)	NC_000018.9:g.7036033C>G	VUS	1 lab	e95c811485
1:152277077 FLG C>A	1	152277077	152277077	C	A	FLG	c.10285G>T	NM_002016.1	NP_002007.1:p.(Glu3429Ter)	NC_000001.10:g.152277077C>A	(Likely) benign	1 lab	e95e976221
6:43251085 TTBK1 T>G	6	43251085	43251085	T	G	TTBK1	c.2607T>G	NM_032538.2	NP_115927.1:p.(His869Gln)	NC_000006.11:g.43251085T>G	(Likely) benign	1 lab	e95f30d375
X:107975990 IRS4 G>A	X	107975990	107975990	G	A	IRS4	c.3585C>T	NM_003604.2	NP_003595.1:p.(Asn1195=)	NC_000023.10:g.107975990G>A	(Likely) benign	1 lab	e95f36f79f
14:105415724 AHNAK2 C>G	14	105415724	105415724	C	G	AHNAK2	c.6064G>C	NM_138420.3	NP_612429.2:p.(Val2022Leu)	NC_000014.8:g.105415724C>G	(Likely) benign	1 lab	e95fb6d0e8
X:35938094 CFAP47 C>T	X	35938094	35938094	C	T	CFAP47	c.178C>T	NM_001304548.1	NP_001291477.1:p.(Leu60Phe)	NC_000023.10:g.35938094C>T	VUS	1 lab	e95feec7a8
17:29528086 NF1 C>A	17	29528086	29528086	C	A	NF1	c.1094C>A	NM_000267.3	NP_000258.1:p.(Ser365Ter)	NC_000017.10:g.29528086C>A	(Likely) pathogenic	1 lab	e96004eb42
11:608695 PHRF1 G>C	11	608695	608695	G	C	PHRF1	c.3236G>C	NM_020901.3	NP_065952.2:p.(Gly1079Ala)	NC_000011.9:g.608695G>C	(Likely) benign	1 lab	e9607a9b68
8:144994457 PLEC C>T	8	144994457	144994457	C	T	PLEC	c.9943G>A	NM_201380.3	NP_958782.1:p.(Ala3315Thr)	NC_000008.10:g.144994457C>T	(Likely) benign	1 lab	e9607e5d0e
1:152192824 HRNR G>T	1	152192824	152192824	G	T	HRNR	c.1281C>A	NM_001009931.2	NP_001009931.1:p.(Gly427=)	NC_000001.10:g.152192824G>T	(Likely) benign	1 lab	e9610ac8ce
17:29496970 NF1 C>T	17	29496970	29496970	C	T	NF1	c.541C>T	NM_000267.3	NP_000258.1:p.(Gln181Ter)	NC_000017.10:g.29496970C>T	(Likely) pathogenic	1 lab	e961c08260
22:21377325 P2RX6 G>A	22	21377325	21377325	G	A	P2RX6	c.557+1G>A	NM_005446.4	NP_005437.2:p.?	NC_000022.10:g.21377325G>A	VUS	1 lab	e962b7f4ca
17:76425370 DNAH17 G>T	17	76425370	76425370	G	T	DNAH17	c.12237C>A	NM_173628.3	NP_775899.3:p.(Asp4079Glu)	NC_000017.10:g.76425370G>T	VUS	1 lab	e963ee0487
1:228481989 OBSCN C>G	1	228481989	228481989	C	G	OBSCN	c.12555C>G	NM_001271223.2	NP_001258152.2:p.(Asp4185Glu)	NC_000001.10:g.228481989C>G	VUS	1 lab	e964108224
21:46900670 COL18A1 C>T	21	46900670	46900670	C	T	COL18A1	c.1509C>T	NM_130445.2	NP_569712.2:p.(Gly503=)	NC_000021.8:g.46900670C>T	(Likely) benign	1 lab	e9647aff72
19:46271877 SIX5 C>G	19	46271877	46271877	C	G	SIX5	c.226G>C	NM_175875.4	NP_787071.2:p.(Ala76Pro)	NC_000019.9:g.46271877C>G	(Likely) benign	1 lab	e96493011a
19:15224482 SYDE1 G>C	19	15224482	15224482	G	C	SYDE1	c.1916G>C	NM_033025.6	NP_149014.3:p.(Gly639Ala)	NC_000019.9:g.15224482G>C	(Likely) benign	1 lab	e965935f9e
3:4810301 ITPR1 C>T	3	4810301	4810301	C	T	ITPR1	c.5787C>T	NM_001168272.1	NP_001161744.1:p.(Pro1929=)	NC_000003.11:g.4810301C>T	(Likely) benign	1 lab	e9659cafa2
19:45209053 CEACAM16 C>T	19	45209053	45209053	C	T	CEACAM16	c.855C>T	NM_001039213.4	NP_001034302.2:p.(Ala285=)	NC_000019.9:g.45209053C>T	(Likely) benign	1 lab	e965c21ff7
9:135786884 TSC1 T>TAG	9	135786884	135786885	T	TAG	TSC1	c.984_985insCT	NM_000368.4	NP_000359.1:p.(Thr329LeufsTer3)	NC_000009.11:g.135786884_135786885insAG	(Likely) pathogenic	1 lab	e96e2f7009
5:140710540 PCDHGA1 G>T	5	140710540	140710540	G	T	PCDHGA1	c.289G>T	NM_018912.2	NP_061735.1:p.(Ala97Ser)	NC_000005.9:g.140710540G>T	VUS	1 lab	e96f0a4287
8:145113471 OPLAH G>A	8	145113471	145113471	G	A	OPLAH	c.711C>T	NM_017570.4	NP_060040.1:p.(Ala237=)	NC_000008.10:g.145113471G>A	(Likely) benign	1 lab	e970e244fe
11:68153944 LRP5 C>T	11	68153944	68153944	C	T	LRP5	c.1176C>T	NM_002335.3	NP_002326.2:p.(Asp392=)	NC_000011.9:g.68153944C>T	(Likely) benign	1 lab	e970fd4dea
10:97146765 SORBS1 T>C	10	97146765	97146765	T	C	SORBS1	c.1409A>G	NM_001034955.1	NP_001030127.1:p.(Gln470Arg)	NC_000010.10:g.97146765T>C	(Likely) benign	1 lab	e971a3f1ef
11:124766914 ROBO4 A>G	11	124766914	124766914	A	G	ROBO4	c.314T>C	NM_019055.5	NP_061928.4:p.(Leu105Pro)	NC_000011.9:g.124766914A>G	(Likely) benign	1 lab	e972476c8d
9:103055225 INVS G>C	9	103055225	103055225	G	C	INVS	c.2398G>C	NM_001318381.1	NP_001305310.1:p.(Val800Leu)	NC_000009.11:g.103055225G>C	(Likely) benign	1 lab	e97261e8c4
20:61468522 COL9A3 C>T	20	61468522	61468522	C	T	COL9A3	c.1691C>T	NM_001853.4	NP_001844.3:p.(Pro564Leu)	NC_000020.10:g.61468522C>T	VUS	1 lab	e973c36114
9:133911720 LAMC3 G>A	9	133911720	133911720	G	A	LAMC3	c.976+1G>A	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133911720G>A	(Likely) pathogenic	1 lab	e97524c0aa
8:144992990 PLEC G>A	8	144992990	144992990	G	A	PLEC	c.11410C>T	NM_201380.3	NP_958782.1:p.(Arg3804Trp)	NC_000008.10:g.144992990G>A	VUS	1 lab	e9767c73d1
12:49437153 KMT2D A>G	12	49437153	49437153	A	G	KMT2D	c.5526T>C	NM_003482.3	NP_003473.3:p.(Asp1842=)	NC_000012.11:g.49437153A>G	(Likely) benign	1 lab	e9770878f9
21:30304810 LTN1 G>A	21	30304810	30304810	G	A	LTN1	c.5052C>T	NM_015565.3	NP_056380.3:p.(Ser1684=)	NC_000021.8:g.30304810G>A	(Likely) benign	1 lab	e977ea031e
1:150325388 PRPF3 A>G	1	150325388	150325388	A	G	PRPF3	c.1580A>G	NM_001350529.1	NP_001337458.1:p.(Lys527Arg)	NC_000001.10:g.150325388A>G	(Likely) benign	1 lab	e978b27b18
1:154247885 HAX1 G>A	1	154247885	154247885	G	A	HAX1	c.680G>A	NM_006118.3	NP_006109.2:p.(Arg227Gln)	NC_000001.10:g.154247885G>A	VUS	1 lab	e979287068
21:47532441 COL6A2 G>A	21	47532441	47532441	G	A	COL6A2	c.664G>A	NM_058175.2	NP_478055.2:p.(Asp222Asn)	NC_000021.8:g.47532441G>A	VUS	1 lab	e9793997a0
17:79495775 FSCN2 A>G	17	79495775	79495775	A	G	FSCN2	c.218A>G	NM_001077182.2	NP_001070650.1:p.(Glu73Gly)	NC_000017.10:g.79495775A>G	VUS	1 lab	e97a24e8d2
16:53691527 RPGRIP1L T>G	16	53691527	53691527	T	G	RPGRIP1L	c.1419A>C	NM_015272.4	NP_056087.2:p.(Lys473Asn)	NC_000016.9:g.53691527T>G	VUS	1 lab	e97a7c1b30
4:3134286 HTT C>T	4	3134286	3134286	C	T	HTT	c.2243-3C>T	NM_002111.8	NP_002102.4:p.?	NC_000004.11:g.3134286C>T	(Likely) benign	1 lab	e97a9b7dea
6:116950833 RSPH4A T>C	6	116950833	116950833	T	C	RSPH4A	c.1766T>C	NM_001010892.2	NP_001010892.1:p.(Leu589Pro)	NC_000006.11:g.116950833T>C	(Likely) benign	1 lab	e97acb36f4
8:145742480 RECQL4 G>A	8	145742480	145742480	G	A	RECQL4	c.308C>T	NM_004260.3	NP_004251.3:p.(Pro103Leu)	NC_000008.10:g.145742480G>A	VUS	1 lab	e97b8c0065
2:150443603 MMADHC A>G	2	150443603	150443603	A	G	MMADHC	c.9T>C	NM_015702.2	NP_056517.1:p.(Asn3=)	NC_000002.11:g.150443603A>G	(Likely) benign	1 lab	e97c3cff2c
17:29677187 NF1 C>T	17	29677187	29677187	C	T	NF1	c.7259-14C>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29677187C>T	(Likely) benign	1 lab	e97d70ee2b
22:24582101 SUSD2 G>A	22	24582101	24582101	G	A	SUSD2	c.1457G>A	NM_019601.4	NP_062547.1:p.(Arg486Gln)	NC_000022.10:g.24582101G>A	VUS	1 lab	e97ffa60bf
X:153031741 PLXNB3 C>T	X	153031741	153031741	C	T	PLXNB3	c.76C>T	NM_001163257.1	NP_001156729.1:p.(Arg26Trp)	NC_000023.10:g.153031741C>T	VUS	1 lab	e980d1f187
6:79787637 PHIP G>T	6	79787637	79787637	G	T	PHIP	c.41-7C>A	NM_017934.6	NP_060404.4:p.?	NC_000006.11:g.79787637G>T	(Likely) pathogenic	1 lab	e980e16708
11:6636154 TPP1 G>A	11	6636154	6636154	G	A	TPP1	c.1494C>T	NM_000391.3	NP_000382.3:p.(Pro498=)	NC_000011.9:g.6636154G>A	(Likely) benign	1 lab	e98242c74a
7:94285409 SGCE A>G	7	94285409	94285409	A	G	SGCE				NC_000007.13:g.94285409A>G	VUS	1 lab	5564c91304
15:91306272 BLM G>A	15	91306272	91306272	G	A	BLM	c.834G>A	NM_001287248.1	NP_001274177.1:p.(Lys278=)	NC_000015.9:g.91306272G>A	(Likely) benign	1 lab	e9824c094b
11:72423295 ARAP1 G>A	11	72423295	72423295	G	A	ARAP1	c.968C>T	NM_001040118.2	NP_001035207.1:p.(Thr323Ile)	NC_000011.9:g.72423295G>A	(Likely) benign	1 lab	e983374f65
15:85326560 ZNF592 C>T	15	85326560	85326560	C	T	ZNF592	c.654C>T	NM_014630.2	NP_055445.2:p.(His218=)	NC_000015.9:g.85326560C>T	(Likely) benign	1 lab	e986d7ca3f
17:39925366 JUP C>T	17	39925366	39925366	C	T	JUP	c.562G>A	NM_001352773.1	NP_001339702.1:p.(Ala188Thr)	NC_000017.10:g.39925366C>T	VUS	1 lab	e9872b1250
X:48933266 WDR45 G>A	X	48933266	48933266	G	A	WDR45	c.666C>T	NM_007075.3	NP_009006.2:p.(Asp222=)	NC_000023.10:g.48933266G>A	(Likely) benign	1 lab	e9874c3d92
22:46652908 PKDREJ C>G	22	46652908	46652908	C	G	PKDREJ	c.6312G>C	NM_006071.1	NP_006062.1:p.(Met2104Ile)	NC_000022.10:g.46652908C>G	(Likely) benign	1 lab	e987a4383e
X:71522051 CITED1 G>A	X	71522051	71522051	G	A	CITED1	c.104C>T	NM_004143.3	NP_004134.2:p.(Ala35Val)	NC_000023.10:g.71522051G>A	(Likely) benign	1 lab	e9883b3c87
11:4825077 OR52R1 G>C	11	4825077	4825077	G	C	OR52R1	c.534C>G	NM_001005177.3	NP_001005177.3:p.(Pro178=)	NC_000011.9:g.4825077G>C	(Likely) benign	1 lab	e9888b2daf
X:133700672 PLAC1 G>A	X	133700672	133700672	G	A	PLAC1	c.41C>T	NM_021796.4	NP_068568.1:p.(Thr14Ile)	NC_000023.10:g.133700672G>A	VUS	1 lab	e988951703
10:102770235 PDZD7 G>A	10	102770235	102770235	G	A	PDZD7	c.2411C>T	NM_001195263.1	NP_001182192.1:p.(Ala804Val)	NC_000010.10:g.102770235G>A	(Likely) benign	1 lab	e988e3412b
8:11990280 USP17L7 A>G	8	11990280	11990280	A	G	USP17L7	c.1239T>C	NM_001256869.1	NP_001243798.1:p.(Pro413=)	NC_000008.10:g.11990280A>G	(Likely) benign	1 lab	e98a010437
19:49929905 GFY C>A	19	49929905	49929905	C	A	GFY	c.218C>A	NM_001195256.1	NP_001182185.1:p.(Pro73His)	NC_000019.9:g.49929905C>A	VUS	1 lab	e98a8b6225
17:29508727 NF1 G>A	17	29508727	29508727	G	A	NF1	c.655-1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29508727G>A	(Likely) pathogenic	1 lab	e98b5a582c
X:30260721 MAGEB4 C>T	X	30260721	30260721	C	T	MAGEB4	c.469C>T	NM_002367.3	NP_002358.1:p.(Arg157Cys)	NC_000023.10:g.30260721C>T	(Likely) benign	1 lab	e98e466840
17:79477827 ACTG1 C>G	17	79477827	79477827	C	G	ACTG1	c.1017G>C	NM_001199954.2	NP_001186883.1:p.(Val339=)	NC_000017.10:g.79477827C>G	(Likely) benign	1 lab	e98f0c21b6
6:41884561 MED20 TCA>T	6	41884561	41884565	TCA	T	MED20	c.129_130del	NM_004275.5	NP_004266.2:p.(Cys43Ter)	NC_000006.11:g.41884564_41884565del	VUS	1 lab	e990c89995
17:77073879 ENGASE C>T	17	77073879	77073879	C	T	ENGASE	c.349C>T	NM_001042573.2	NP_001036038.1:p.(Pro117Ser)	NC_000017.10:g.77073879C>T	VUS	1 lab	e991c237c1
6:138817508 NHSL1 G>A	6	138817508	138817508	G	A	NHSL1	c.203C>T	NM_020464.1	NP_065197.1:p.(Ala68Val)	NC_000006.11:g.138817508G>A	VUS	1 lab	e992e2ac27
10:16960805 CUBN G>A	10	16960805	16960805	G	A	CUBN	c.6822-6C>T	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16960805G>A	(Likely) benign	1 lab	e992f594cc
14:76549613 IFT43 C>T	14	76549613	76549613	C	T	IFT43	c.503C>T	NM_052873.2	NP_443105.2:p.(Pro168Leu)	NC_000014.8:g.76549613C>T	VUS	1 lab	e9968a373d
4:985092 SLC26A1 C>T	4	985092	985092	C	T	SLC26A1	c.400G>A	NM_213613.3	NP_998778.1:p.(Gly134Arg)	NC_000004.11:g.985092C>T	VUS	1 lab	e996fe20f1
5:76715607 PDE8B G>A	5	76715607	76715607	G	A	PDE8B	c.2145G>A	NM_003719.3	NP_003710.1:p.(Thr715=)	NC_000005.9:g.76715607G>A	(Likely) benign	1 lab	e997468d34
22:50962427 SCO2 T>TGGGCAGATGTCA	22	50962427	50962445	T	TGGGCAGATGTCA	SCO2	c.402_413dup	NM_001169109.1	NP_001162580.1:p.(Ile136_Asp139dup)	NC_000022.10:g.50962434_50962445dup	VUS	1 lab	e99a8de910
19:18280110 PIK3R2 G>A	19	18280110	18280110	G	A	PIK3R2	c.*6G>A	NM_005027.3	NP_005018.1:p.?	NC_000019.9:g.18280110G>A	(Likely) benign	1 lab	e99c859ffa
8:32453358 NRG1 G>A	8	32453358	32453358	G	A	NRG1	c.113G>A	NM_013956.4	NP_039250.2:p.(Arg38Gln)	NC_000008.10:g.32453358G>A	(Likely) benign	1 lab	e99cb9ca47
11:721628 EPS8L2 G>A	11	721628	721628	G	A	EPS8L2	c.832G>A	NM_022772.3	NP_073609.2:p.(Glu278Lys)	NC_000011.9:g.721628G>A	VUS	1 lab	e99e253e27
17:26966347 BLTP2 C>T	17	26966347	26966347	C	T	BLTP2	c.1215G>A	NM_014680.5	NP_055495.2:p.(Lys405=)	NC_000017.10:g.26966347C>T	(Likely) benign	1 lab	e99f74da52
15:31294933 TRPM1 A>G	15	31294933	31294933	A	G	TRPM1	c.4021T>C	NM_001252020.1	NP_001238949.1:p.(Cys1341Arg)	NC_000015.9:g.31294933A>G	(Likely) benign	1 lab	e9a0e1d2cb
17:1629905 WDR81 A>G	17	1629905	1629905	A	G	WDR81	c.1652A>G	NM_001163809.1	NP_001157281.1:p.(Tyr551Cys)	NC_000017.10:g.1629905A>G	VUS	1 lab	e9a192a52e
20:21686425 PAX1 C>T	20	21686425	21686425	C	T	PAX1	c.75C>T	NM_001257096.1	NP_001244025.1:p.(Gly25=)	NC_000020.10:g.21686425C>T	(Likely) benign	1 lab	e9a2e58c8c
X:153033712 PLXNB3 C>T	X	153033712	153033712	C	T	PLXNB3	c.1164C>T	NM_001163257.1	NP_001156729.1:p.(Pro388=)	NC_000023.10:g.153033712C>T	(Likely) benign	1 lab	e9a305c31e
7:91855110 KRIT1 A>C	7	91855110	91855110	A	C	KRIT1	c.1178T>G	NM_004912.4	NP_004903.2:p.(Leu393Ter)	NC_000007.13:g.91855110A>C	(Likely) pathogenic	1 lab	e9a47bd910
17:79478617 ACTG1 G>T	17	79478617	79478617	G	T	ACTG1	c.399C>A	NM_001199954.2	NP_001186883.1:p.(Tyr133Ter)	NC_000017.10:g.79478617G>T	VUS	1 lab	e9a60b0ff8
15:91292949 BLM A>G	15	91292949	91292949	A	G	BLM	c.451A>G	NM_001287246.1	NP_001274175.1:p.(Ile151Val)	NC_000015.9:g.91292949A>G	(Likely) benign	1 lab	e9a67cc502
16:2136155 TSC2 C>CGGGAGTGATGCCACCCTGCCT	16	2136155	2136176	C	CGGGAGTGATGCCACCCTGCCT	TSC2	c.4663-38_4663-18dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2136156_2136176dup	VUS	1 lab	e9a754a241
6:6318830 F13A1 G>A	6	6318830	6318830	G	A	F13A1	c.68C>T	NM_000129.3	NP_000120.2:p.(Ala23Val)	NC_000006.11:g.6318830G>A	(Likely) benign	1 lab	e9a7dfa289
1:10511484 CENPS-CORT C>T	1	10511484	10511484	C	T	CENPS-CORT	c.264C>T	NM_001243768.1	NP_001230697.1:p.(Leu88=)	NC_000001.10:g.10511484C>T	(Likely) benign	1 lab	e9aa12990f
X:41481894 CASK G>C	X	41481894	41481894	G	C	CASK	c.1016-7C>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41481894G>C	VUS	1 lab	e9ab6dca67
1:153277477 PGLYRP3 T>G	1	153277477	153277477	T	G	PGLYRP3	c.322A>C	NM_052891.2	NP_443123.1:p.(Thr108Pro)	NC_000001.10:g.153277477T>G	VUS	1 lab	e9acc528cf
4:151357970 LRBA C>T	4	151357970	151357970	C	T	LRBA	c.6860G>A	NM_006726.4	NP_006717.2:p.(Arg2287His)	NC_000004.11:g.151357970C>T	VUS	1 lab	e9ae844454
3:132218012 DNAJC13 G>A	3	132218012	132218012	G	A	DNAJC13	c.4199G>A	NM_015268.4	NP_056083.3:p.(Arg1400Gln)	NC_000003.11:g.132218012G>A	VUS	1 lab	e9b15c6d05
17:2583566 PAFAH1B1 C>T	17	2583566	2583566	C	T	PAFAH1B1	c.1111C>T	NM_000430.3	NP_000421.1:p.(Arg371Ter)	NC_000017.10:g.2583566C>T	(Likely) pathogenic	1 lab	e9b2087617
16:16286765 ABCC6 G>A	16	16286765	16286765	G	A	ABCC6	c.1011C>T	NM_001351800.1	NP_001338729.1:p.(Ser337=)	NC_000016.9:g.16286765G>A	(Likely) benign	1 lab	e9b5572a84
X:118109301 LONRF3 G>A	X	118109301	118109301	G	A	LONRF3	c.558G>A	NM_001031855.2	NP_001027026.1:p.(Arg186=)	NC_000023.10:g.118109301G>A	(Likely) benign	1 lab	e9b60e3fbc
X:54475361 FGD1 C>T	X	54475361	54475361	C	T	FGD1	c.2314G>A	NM_004463.2	NP_004454.2:p.(Val772Ile)	NC_000023.10:g.54475361C>T	(Likely) benign	1 lab	e9b80ebf09
8:145736817 RECQL4 G>A	8	145736817	145736817	G	A	RECQL4	c.3624C>T	NM_004260.3	NP_004251.3:p.(Arg1208=)	NC_000008.10:g.145736817G>A	(Likely) benign	1 lab	e9b8dfa199
3:150874057 MED12L G>T	3	150874057	150874057	G	T	MED12L	c.666G>T	NM_053002.5	NP_443728.3:p.(Glu222Asp)	NC_000003.11:g.150874057G>T	(Likely) benign	1 lab	e9b93a514b
7:21603886 DNAH11 A>G	7	21603886	21603886	A	G	DNAH11				NC_000007.13:g.21603886A>G	(Likely) benign	1 lab	e9b9f2e70a
X:13636076 EGFL6 G>A	X	13636076	13636076	G	A	EGFL6	c.1006G>A	NM_001167890.1	NP_001161362.1:p.(Glu336Lys)	NC_000023.10:g.13636076G>A	(Likely) benign	1 lab	e9ba22256c
17:18024904 MYO15A C>T	17	18024904	18024904	C	T	MYO15A	c.2790C>T	NM_016239.3	NP_057323.3:p.(Asp930=)	NC_000017.10:g.18024904C>T	(Likely) benign	1 lab	e9bdedc51d
7:19156934 TWIST1 TC>T	7	19156934	19156936	TC	T	TWIST1	c.10del	NM_000474.4	NP_000465.1:p.(Asp4ThrfsTer14)	NC_000007.13:g.19156936del	(Likely) pathogenic	1 lab	e9bdf87d66
17:38100799 LRRC3C T>G	17	38100799	38100799	T	G	LRRC3C	c.640T>G	NM_001195545.1	NP_001182474.1:p.(Trp214Gly)	NC_000017.10:g.38100799T>G	(Likely) benign	1 lab	e9bf48078c
17:42429140 GRN T>TG	17	42429140	42429144	T	TG	GRN	c.1160dup	NM_002087.2	NP_002078.1:p.(Cys388LeufsTer26)	NC_000017.10:g.42429144dup	(Likely) pathogenic	1 lab	e9bfd29820
2:152955486 CACNB4 C>T	2	152955486	152955486	C	T	CACNB4	c.40G>A	NM_000726.4	NP_000717.2:p.(Gly14Arg)	NC_000002.11:g.152955486C>T	VUS	1 lab	e9bfdab8f1
16:2160292 PKD1 C>T	16	2160292	2160292	C	T	PKD1	c.4876G>A	NM_001009944.2	NP_001009944.2:p.(Val1626Ile)	NC_000016.9:g.2160292C>T	(Likely) benign	1 lab	e9c070596e
1:22172608 HSPG2 G>A	1	22172608	22172608	G	A	HSPG2	c.8460C>T	NM_001291860.1	NP_001278789.1:p.(His2820=)	NC_000001.10:g.22172608G>A	(Likely) benign	1 lab	e9c0e9b22a
2:145182371 ZEB2 T>G	2	145182371	145182371	T	G	ZEB2	c.395A>C	NM_014795.3	NP_055610.1:p.(Asn132Thr)	NC_000002.11:g.145182371T>G	(Likely) benign	1 lab	e9c0f6a461
12:49434338 KMT2D G>A	12	49434338	49434338	G	A	KMT2D	c.7215C>T	NM_003482.3	NP_003473.3:p.(Ser2405=)	NC_000012.11:g.49434338G>A	(Likely) benign	1 lab	e9c11f4c9c
16:68729746 CDH3 G>A	16	68729746	68729746	G	A	CDH3	c.2200G>A	NM_001317195.1	NP_001304124.1:p.(Val734Met)	NC_000016.9:g.68729746G>A	VUS	1 lab	e9c1f7afbc
6:87970156 ZNF292 G>A	6	87970156	87970156	G	A	ZNF292	c.6809G>A	NM_015021.2	NP_055836.1:p.(Arg2270Gln)	NC_000006.11:g.87970156G>A	VUS	1 lab	e9c1fcfb1a
5:112043577 APC C>A	5	112043577	112043577	C	A	APC				NC_000005.9:g.112043577C>A	(Likely) benign	1 lab	4ed408fbae
X:101096291 NXF5 G>C	X	101096291	101096291	G	C	NXF5	c.333C>G	NM_032946.2	NP_116564.2:p.(Asn111Lys)	NC_000023.10:g.101096291G>C	(Likely) benign	1 lab	e9c2bb48f9
X:68749466 NALF2 G>C	X	68749466	68749466	G	C	NALF2	c.1086G>C	NM_015686.2	NP_056501.2:p.(Gln362His)	NC_000023.10:g.68749466G>C	VUS	1 lab	e9c3514141
19:7505268 ARHGEF18 G>T	19	7505268	7505268	G	T	ARHGEF18	c.280G>T	NM_001130955.2	NP_001124427.2:p.(Asp94Tyr)	NC_000019.9:g.7505268G>T	VUS	1 lab	e9c55a2bb9
17:29562933 NF1 T>G	17	29562933	29562933	T	G	NF1	c.3871-3T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562933T>G	VUS	1 lab	e9c60c6faa
8:30977905 WRN C>T	8	30977905	30977905	C	T	WRN	c.2595C>T	NM_000553.4	NP_000544.2:p.(His865=)	NC_000008.10:g.30977905C>T	(Likely) benign	1 lab	e9c777ec0c
11:102587154 MMP8 GA>G	11	102587154	102587178	GA	G	MMP8	c.785-5del	NM_002424.3	NP_002415.1:p.?	NC_000011.9:g.102587178del	(Likely) benign	1 lab	e9cb055dc3
16:2110657 TSC2 G>A	16	2110657	2110657	G	A	TSC2	c.976-14G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110657G>A	(Likely) pathogenic	1 lab	e9cc1e6645
X:153043007 PLXNB3 G>A	X	153043007	153043007	G	A	PLXNB3	c.5194G>A	NM_001163257.1	NP_001156729.1:p.(Asp1732Asn)	NC_000023.10:g.153043007G>A	VUS	1 lab	e9cc6f0753
2:179658241 TTN C>T	2	179658241	179658241	C	T	TTN	c.1426G>A	NM_001267550.1	NP_001254479.1:p.(Val476Ile)	NC_000002.11:g.179658241C>T	VUS	1 lab	e9ccc29483
12:110023913 MVK A>G	12	110023913	110023913	A	G	MVK	c.614A>G	NM_000431.2	NP_000422.1:p.(Asn205Ser)	NC_000012.11:g.110023913A>G	VUS	1 lab	e9d0c7bcdc
11:65488101 RNASEH2C C>T	11	65488101	65488101	C	T	RNASEH2C	c.129G>A	NM_032193.3	NP_115569.2:p.(Pro43=)	NC_000011.9:g.65488101C>T	(Likely) benign	1 lab	e9d203bd67
22:40815138 MRTFA G>A	22	40815138	40815138	G	A	MRTFA				NC_000022.10:g.40815138G>A	VUS	1 lab	e9d2ce103a
1:44360055 ST3GAL3 G>T	1	44360055	44360055	G	T	ST3GAL3	c.24G>T	NM_001350621.1	NP_001337550.1:p.(Arg8Ser)	NC_000001.10:g.44360055G>T	VUS	1 lab	e9d2f84ca7
17:48699080 CACNA1G C>T	17	48699080	48699080	C	T	CACNA1G	c.5985C>T	NM_018896.4	NP_061496.2:p.(Ser1995=)	NC_000017.10:g.48699080C>T	(Likely) benign	1 lab	e9d5e3629f
X:153881573 CTAG2 C>G	X	153881573	153881573	C	G	CTAG2	c.217G>C	NM_020994.4	NP_066274.2:p.(Asp73His)	NC_000023.10:g.153881573C>G	(Likely) benign	1 lab	e9d89c33e5
19:13346055 CACNA1A G>A	19	13346055	13346055	G	A	CACNA1A	c.5119C>T	NM_023035.2	NP_075461.2:p.(Leu1707Phe)	NC_000019.9:g.13346055G>A	VUS	1 lab	e9db26ecdd
19:45855770 ERCC2 G>A	19	45855770	45855770	G	A	ERCC2	c.2040C>T	NM_000400.3	NP_000391.1:p.(Ala680=)	NC_000019.9:g.45855770G>A	(Likely) benign	1 lab	e9dbe71be2
6:32825089 PSMB9 C>T	6	32825089	32825089	C	T	PSMB9	c.178C>T	NM_002800.5	NP_002791.1:p.(Arg60Cys)	NC_000006.11:g.32825089C>T	VUS	1 lab	e9dce25a10
X:129349978 ZNF280C G>A	X	129349978	129349978	G	A	ZNF280C	c.1625C>T	NM_017666.4	NP_060136.1:p.(Pro542Leu)	NC_000023.10:g.129349978G>A	VUS	1 lab	e9dcf3fc60
21:47538944 COL6A2 G>T	21	47538944	47538944	G	T	COL6A2	c.1180G>T	NM_058175.2	NP_478055.2:p.(Gly394Trp)	NC_000021.8:g.47538944G>T	VUS	1 lab	e9dd391bdf
14:51223353 NIN A>G	14	51223353	51223353	A	G	NIN	c.4395T>C	NM_020921.3	NP_065972.3:p.(Thr1465=)	NC_000014.8:g.51223353A>G	(Likely) benign	1 lab	e9ddfd17cb
14:64625415 SYNE2 G>A	14	64625415	64625415	G	A	SYNE2	c.15865G>A	NM_182914.2	NP_878918.2:p.(Val5289Met)	NC_000014.8:g.64625415G>A	VUS	1 lab	e9de7a3f0c
9:80912130 PSAT1 G>T	9	80912130	80912130	G	T	PSAT1	c.4G>T	NM_058179.3	NP_478059.1:p.(Asp2Tyr)	NC_000009.11:g.80912130G>T	VUS	1 lab	e9dec64ad3
1:151315599 RFX5 C>T	1	151315599	151315599	C	T	RFX5	c.914G>A	NM_000449.3	NP_000440.1:p.(Arg305Gln)	NC_000001.10:g.151315599C>T	(Likely) benign	1 lab	e9e0e1fa21
22:50678682 TUBGCP6 C>T	22	50678682	50678682	C	T	TUBGCP6	c.856G>A	NM_020461.3	NP_065194.2:p.(Ala286Thr)	NC_000022.10:g.50678682C>T	(Likely) benign	1 lab	e9e285ac52
12:64202670 RXYLT1 A>G	12	64202670	64202670	A	G	RXYLT1	c.1130A>G	NM_014254.2	NP_055069.1:p.(Lys377Arg)	NC_000012.11:g.64202670A>G	VUS	1 lab	e9e2a5d3e9
4:649778 PDE6B G>A	4	649778	649778	G	A	PDE6B	c.1042G>A	NM_000283.3	NP_000274.2:p.(Val348Met)	NC_000004.11:g.649778G>A	VUS	1 lab	e9e31118b1
20:35532581 SAMHD1 C>T	20	35532581	35532581	C	T	SAMHD1	c.1482G>A	NM_015474.3	NP_056289.2:p.(Lys494=)	NC_000020.10:g.35532581C>T	(Likely) benign	1 lab	e9e35c3a10
17:78058722 CCDC40 G>A	17	78058722	78058722	G	A	CCDC40	c.2170G>A	NM_017950.3	NP_060420.2:p.(Glu724Lys)	NC_000017.10:g.78058722G>A	VUS	1 lab	e9e3a7ff81
17:18054609 MYO15A G>A	17	18054609	18054609	G	A	MYO15A	c.7654+5G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18054609G>A	(Likely) pathogenic	1 lab	e9e4e43970
X:149814341 MTM1 C>T	X	149814341	149814341	C	T	MTM1	c.864C>T	NM_000252.2	NP_000243.1:p.(Asn288=)	NC_000023.10:g.149814341C>T	(Likely) benign	1 lab	e9e5126e55
11:118917355 HYOU1 T>C	11	118917355	118917355	T	C	HYOU1	c.2755A>G	NM_006389.5	NP_006380.1:p.(Lys919Glu)	NC_000011.9:g.118917355T>C	(Likely) benign	1 lab	e9e99b6e91
16:2120532 TSC2 T>C	16	2120532	2120532	T	C	TSC2	c.1792T>C	NM_000548.3	NP_000539.2:p.(Tyr598His)	NC_000016.9:g.2120532T>C	(Likely) pathogenic	1 lab	e9ea054da6
16:15771729 NDE1 C>G	16	15771729	15771729	C	G	NDE1	c.309C>G	NM_001143979.1	NP_001137451.1:p.(Thr103=)	NC_000016.9:g.15771729C>G	(Likely) benign	1 lab	e9ed06b71d
12:31247712 DDX11 G>A	12	31247712	31247712	G	A	DDX11	c.1438G>A	NM_030653.3	NP_085911.2:p.(Asp480Asn)	NC_000012.11:g.31247712G>A	VUS	1 lab	e9edb9c243
9:88247747 AGTPBP1 C>T	9	88247747	88247747	C	T	AGTPBP1	c.1725G>A	NM_015239.2	NP_056054.2:p.(Ser575=)	NC_000009.11:g.88247747C>T	(Likely) benign	1 lab	e9ef066fdc
X:120181683 GLUD2 G>A	X	120181683	120181683	G	A	GLUD2	c.145G>A	NM_012084.3	NP_036216.2:p.(Ala49Thr)	NC_000023.10:g.120181683G>A	(Likely) benign	1 lab	e9ef862ead
2:101009849 CHST10 G>A	2	101009849	101009849	G	A	CHST10	c.929C>T	NM_004854.4	NP_004845.1:p.(Pro310Leu)	NC_000002.11:g.101009849G>A	(Likely) benign	1 lab	e9f0c3c6c9
12:32735298 FGD4 C>G	12	32735298	32735298	C	G	FGD4	c.497C>G	NM_139241.3	NP_640334.2:p.(Pro166Arg)	NC_000012.11:g.32735298C>G	(Likely) benign	1 lab	e9f18297df
13:39451337 FREM2 A>T	13	39451337	39451337	A	T	FREM2	c.8628A>T	NM_207361.5	NP_997244.4:p.(Gly2876=)	NC_000013.10:g.39451337A>T	(Likely) benign	1 lab	e9f1acadbd
5:127637212 FBN2 A>G	5	127637212	127637212	A	G	FBN2	c.5918-10T>C	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127637212A>G	(Likely) benign	1 lab	e9f1b82011
12:123687346 MPHOSPH9 A>C	12	123687346	123687346	A	C	MPHOSPH9	c.1606T>G	NM_022782.3	NP_073619.3:p.(Phe536Val)	NC_000012.11:g.123687346A>C	VUS	1 lab	e9f44d8249
4:113539402 ZGRF1 G>C	4	113539402	113539402	G	C	ZGRF1	c.1796C>G	NM_018392.4	NP_060862.3:p.(Pro599Arg)	NC_000004.11:g.113539402G>C	VUS	1 lab	e9f57b5e56
2:170137021 LRP2 C>A	2	170137021	170137021	C	A	LRP2	c.1180G>T	NM_004525.3	NP_004516.2:p.(Ala394Ser)	NC_000002.11:g.170137021C>A	(Likely) benign	1 lab	e9f59a87a3
6:15652311 DTNBP1 A>T	6	15652311	15652311	A	T	DTNBP1	c.110+7T>A	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15652311A>T	(Likely) benign	1 lab	e9f6fd81f9
10:104489559 SFXN2 G>A	10	104489559	104489559	G	A	SFXN2	c.587G>A	NM_178858.6	NP_849189.1:p.(Arg196Gln)	NC_000010.10:g.104489559G>A	(Likely) benign	1 lab	e9f84ba901
18:6999557 LAMA1 A>T	18	6999557	6999557	A	T	LAMA1	c.4550T>A	NM_005559.3	NP_005550.2:p.(Val1517Asp)	NC_000018.9:g.6999557A>T	(Likely) benign	1 lab	e9f8533029
3:184035155 EIF4G1 G>A	3	184035155	184035155	G	A	EIF4G1	c.194G>A	NM_182917.4	NP_886553.3:p.(Arg65Gln)	NC_000003.11:g.184035155G>A	VUS	1 lab	e9faf8f917
4:138442375 PCDH18 T>C	4	138442375	138442375	T	C	PCDH18	c.3216A>G	NM_019035.4	NP_061908.1:p.(Pro1072=)	NC_000004.11:g.138442375T>C	(Likely) benign	1 lab	e9fb2e9491
9:139265334 CARD9 T>C	9	139265334	139265334	T	C	CARD9	c.586A>G	NM_052813.4	NP_434700.2:p.(Lys196Glu)	NC_000009.11:g.139265334T>C	VUS	1 lab	e9fc0d56a4
X:57934471 ZXDA C>T	X	57934471	57934471	C	T	ZXDA	c.2384G>A	NM_007156.4	NP_009087.1:p.(Ser795Asn)	NC_000023.10:g.57934471C>T	(Likely) benign	1 lab	e9fc840b9b
4:126370232 FAT4 A>G	4	126370232	126370232	A	G	FAT4	c.8067A>G	NM_001291303.1	NP_001278232.1:p.(Ile2689Met)	NC_000004.11:g.126370232A>G	VUS	1 lab	e9fc96a346
2:239757007 TWIST2 G>A	2	239757007	239757007	G	A	TWIST2	c.151G>A	NM_057179.2	NP_476527.1:p.(Gly51Ser)	NC_000002.11:g.239757007G>A	(Likely) benign	1 lab	ea00c8fb7d
8:10470683 RP1L1 T>G	8	10470683	10470683	T	G	RP1L1	c.925A>C	NM_178857.5	NP_849188.4:p.(Met309Leu)	NC_000008.10:g.10470683T>G	(Likely) benign	1 lab	ea030f4866
16:72130095 DHX38 G>A	16	72130095	72130095	G	A	DHX38	c.39G>A	NM_014003.3	NP_054722.2:p.(Leu13=)	NC_000016.9:g.72130095G>A	(Likely) benign	1 lab	ea03469083
5:82837714 VCAN T>A	5	82837714	82837714	T	A	VCAN	c.8892T>A	NM_004385.4	NP_004376.2:p.(Asp2964Glu)	NC_000005.9:g.82837714T>A	(Likely) benign	1 lab	ea047c4dd4
13:25484209 CPAP G>A	13	25484209	25484209	G	A	CPAP	c.584C>T	NM_018451.4	NP_060921.3:p.(Pro195Leu)	NC_000013.10:g.25484209G>A	VUS	1 lab	ea04fd2e6f
11:63530907 ZFTA C>T	11	63530907	63530907	C	T	ZFTA	c.2020G>A	NM_001144936.2	NP_001138408.1:p.(Ala674Thr)	NC_000011.9:g.63530907C>T	VUS	1 lab	ea07ecdd7c
19:3983190 EEF2 G>A	19	3983190	3983190	G	A	EEF2	c.318C>T	NM_001961.3	NP_001952.1:p.(Pro106=)	NC_000019.9:g.3983190G>A	(Likely) benign	1 lab	ea08c742bb
X:135302998 MAP7D3 T>C	X	135302998	135302998	T	C	MAP7D3	c.2307A>G	NM_001173517.1	NP_001166988.1:p.(Thr769=)	NC_000023.10:g.135302998T>C	(Likely) benign	1 lab	ea0a5f7696
7:102212959 POLR2J3 G>T	7	102212959	102212959	G	T	POLR2J3	c.10C>A	NM_001097615.2	NP_001091084.2:p.(Pro4Thr)	NC_000007.13:g.102212959G>T	VUS	1 lab	ea0b28e8db
9:2087066 SMARCA2 G>A	9	2087066	2087066	G	A	SMARCA2				NC_000009.11:g.2087066G>A	(Likely) pathogenic	1 lab	5111b0b1fc
1:70895508 CTH T>C	1	70895508	70895508	T	C	CTH	c.620T>C	NM_001902.5	NP_001893.2:p.(Met207Thr)	NC_000001.10:g.70895508T>C	VUS	1 lab	ea0c42d98f
11:118963793 HMBS C>G	11	118963793	118963793	C	G	HMBS	c.913-27C>G	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118963793C>G	(Likely) benign	1 lab	ea0d29b0fb
16:2135299 TSC2 C>T	16	2135299	2135299	C	T	TSC2	c.4638C>T	NM_000548.3	NP_000539.2:p.(Ala1546=)	NC_000016.9:g.2135299C>T	(Likely) benign	1 lab	ea0d3414e5
X:47039347 RBM10 G>A	X	47039347	47039347	G	A	RBM10	c.1165G>A	NM_001204468.1	NP_001191397.1:p.(Ala389Thr)	NC_000023.10:g.47039347G>A	(Likely) benign	1 lab	ea0d481c6e
18:44157696 LOXHD1 G>A	18	44157696	44157696	G	A	LOXHD1	c.1944C>T	NM_144612.6	NP_653213.6:p.(Ser648=)	NC_000018.9:g.44157696G>A	(Likely) benign	1 lab	ea134f07a9
X:153588099 FLNA C>A	X	153588099	153588099	C	A	FLNA	c.3979+1G>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153588099C>A	(Likely) pathogenic	1 lab	ea135216c4
19:54313776 NLRP12 G>A	19	54313776	54313776	G	A	NLRP12	c.1137C>T	NM_001277126.1	NP_001264055.1:p.(His379=)	NC_000019.9:g.54313776G>A	(Likely) benign	1 lab	ea14b4919a
10:27793334 RAB18 C>A	10	27793334	27793334	C	A	RAB18	c.36C>A	NM_021252.4	NP_067075.1:p.(Leu12=)	NC_000010.10:g.27793334C>A	(Likely) benign	1 lab	ea1540317e
11:67225161 CABP4 G>A	11	67225161	67225161	G	A	CABP4	c.336+8G>A	NM_001300895.1	NP_001287824.1:p.?	NC_000011.9:g.67225161G>A	(Likely) benign	1 lab	ea1596da1c
16:2159286 PKD1 G>A	16	2159286	2159286	G	A	PKD1	c.5882C>T	NM_001009944.2	NP_001009944.2:p.(Ala1961Val)	NC_000016.9:g.2159286G>A	VUS	1 lab	ea15b546f7
9:14770673 FREM1 A>G	9	14770673	14770673	A	G	FREM1	c.4989T>C	NM_144966.5	NP_659403.4:p.(Thr1663=)	NC_000009.11:g.14770673A>G	(Likely) benign	1 lab	ea16c10746
X:154221287 F8 G>A	X	154221287	154221287	G	A	F8	c.525C>T	NM_000132.3	NP_000123.1:p.(Tyr175=)	NC_000023.10:g.154221287G>A	(Likely) benign	1 lab	ea179f595f
X:125299099 DCAF12L2 A>C	X	125299099	125299099	A	C	DCAF12L2	c.809T>G	NM_001013628.2	NP_001013650.1:p.(Phe270Cys)	NC_000023.10:g.125299099A>C	(Likely) benign	1 lab	ea17caed57
17:41244907 BRCA1 C>G	17	41244907	41244907	C	G	BRCA1	c.2641G>C	NM_007294.3	NP_009225.1:p.(Glu881Gln)	NC_000017.10:g.41244907C>G	(Likely) benign	1 lab	ea1a1e05d7
16:30749824 SRCAP C>T	16	30749824	30749824	C	T	SRCAP	c.8463C>T	NM_006662.2	NP_006653.2:p.(Pro2821=)	NC_000016.9:g.30749824C>T	(Likely) benign	1 lab	ea1a94c8b8
14:75018900 LTBP2 G>A	14	75018900	75018900	G	A	LTBP2	c.1389C>T	NM_000428.2	NP_000419.1:p.(Ser463=)	NC_000014.8:g.75018900G>A	(Likely) benign	1 lab	ea1ccc87c9
2:241724412 KIF1A C>T	2	241724412	241724412	C	T	KIF1A	c.714G>A	NM_001244008.1	NP_001230937.1:p.(Thr238=)	NC_000002.11:g.241724412C>T	(Likely) benign	1 lab	ea1d8800eb
19:3942249 NMRK2 C>T	19	3942249	3942249	C	T	NMRK2	c.686C>T	NM_001289117.1	NP_001276046.1:p.(Ala229Val)	NC_000019.9:g.3942249C>T	(Likely) benign	1 lab	ea1de60216
X:123466949 TEX13D G>C	X	123466949	123466949	G	C	TEX13D	c.182G>C	NM_001355534.1	NP_001342463.1:p.(Arg61Pro)	NC_000023.10:g.123466949G>C	VUS	1 lab	ea1e4b3358
5:131543455 P4HA2 G>A	5	131543455	131543455	G	A	P4HA2	c.1026C>T	NM_004199.2	NP_004190.1:p.(Tyr342=)	NC_000005.9:g.131543455G>A	(Likely) benign	1 lab	ea1e5e6d0b
11:47354526 MYBPC3 T>C	11	47354526	47354526	T	C	MYBPC3	c.3331-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354526T>C	(Likely) pathogenic	1 lab	ea21fd5759
10:101591744 ABCC2 G>A	10	101591744	101591744	G	A	ABCC2	c.3114G>A	NM_000392.5	NP_000383.2:p.(Val1038=)	NC_000010.10:g.101591744G>A	(Likely) benign	1 lab	ea241f9e2f
22:21153492 PI4KA C>T	22	21153492	21153492	C	T	PI4KA	c.1893G>A	NM_058004.3	NP_477352.3:p.(Pro631=)	NC_000022.10:g.21153492C>T	(Likely) benign	1 lab	ea24e73762
2:149847673 KIF5C C>T	2	149847673	149847673	C	T	KIF5C	c.1866C>T	NM_004522.3	NP_004513.1:p.(Ser622=)	NC_000002.11:g.149847673C>T	(Likely) benign	1 lab	ea253641fb
2:238249780 COL6A3 G>A	2	238249780	238249780	G	A	COL6A3	c.7779C>T	NM_004369.3	NP_004360.2:p.(Ile2593=)	NC_000002.11:g.238249780G>A	(Likely) benign	1 lab	ea279a86e7
15:72459382 GRAMD2A G>A	15	72459382	72459382	G	A	GRAMD2A	c.424C>T	NM_001012642.3	NP_001012660.1:p.(Arg142Trp)	NC_000015.9:g.72459382G>A	VUS	1 lab	ea285ffb7a
2:152432785 NEB G>A	2	152432785	152432785	G	A	NEB	c.16788C>T	NM_001271208.1	NP_001258137.1:p.(Asn5596=)	NC_000002.11:g.152432785G>A	(Likely) benign	1 lab	ea2a9f11fb
14:64522891 SYNE2 C>T	14	64522891	64522891	C	T	SYNE2	c.9974C>T	NM_182914.2	NP_878918.2:p.(Ala3325Val)	NC_000014.8:g.64522891C>T	(Likely) benign	1 lab	ea2b0bc6fe
13:32910998 BRCA2 C>T	13	32910998	32910998	C	T	BRCA2	c.2506C>T	NM_000059.3	NP_000050.2:p.(Pro836Ser)	NC_000013.10:g.32910998C>T	(Likely) benign	1 lab	ea2c4de27d
16:50745991 NOD2 G>A	16	50745991	50745991	G	A	NOD2	c.2169G>A	NM_022162.1	NP_071445.1:p.(Pro723=)	NC_000016.9:g.50745991G>A	(Likely) benign	1 lab	ea2e12e2cf
2:96958748 SNRNP200 C>T	2	96958748	96958748	C	T	SNRNP200	c.2122G>A	NM_014014.4	NP_054733.2:p.(Val708Ile)	NC_000002.11:g.96958748C>T	VUS	1 lab	ea2e9140bf
5:90124873 ADGRV1 C>G	5	90124873	90124873	C	G	ADGRV1	c.16481C>G	NM_032119.4	NP_115495.3:p.(Ser5494Cys)	NC_000005.9:g.90124873C>G	VUS	1 lab	ea340571f4
X:153038773 PLXNB3 C>A	X	153038773	153038773	C	A	PLXNB3	c.3064C>A	NM_001163257.1	NP_001156729.1:p.(His1022Asn)	NC_000023.10:g.153038773C>A	(Likely) benign	1 lab	ea3487b59f
X:69370122 IGBP1 A>G	X	69370122	69370122	A	G	IGBP1	c.821A>G	NM_001551.2	NP_001542.1:p.(His274Arg)	NC_000023.10:g.69370122A>G	(Likely) benign	1 lab	ea350acc0b
3:15126282 RBSN CATAA>C	3	15126282	15126286	CATAA	C	RBSN	c.554_557del	NM_022340.4	NP_071735.2:p.(Ile185SerfsTer25)	NC_000003.11:g.15126283_15126286del	VUS	1 lab	ea35c27ea9
19:45862138 ERCC2 G>A	19	45862138	45862138	G	A	ERCC2	c.1198C>T	NM_001130867.1	NP_001124339.1:p.(Gln400Ter)	NC_000019.9:g.45862138G>A	VUS	1 lab	ea36c49670
14:21883727 CHD8 C>T	14	21883727	21883727	C	T	CHD8	c.1968+6G>A	NM_001170629.1	NP_001164100.1:p.?	NC_000014.8:g.21883727C>T	(Likely) benign	1 lab	ea36e313ff
2:202131411 CASP8 C>T	2	202131411	202131411	C	T	CASP8	c.379C>T	NM_001080125.1	NP_001073594.1:p.(Arg127Ter)	NC_000002.11:g.202131411C>T	VUS	1 lab	ea36fb686a
12:133319834 ANKLE2 C>T	12	133319834	133319834	C	T	ANKLE2	c.1259G>A	NM_015114.2	NP_055929.1:p.(Cys420Tyr)	NC_000012.11:g.133319834C>T	VUS	1 lab	ea394f6174
14:105417129 AHNAK2 C>G	14	105417129	105417129	C	G	AHNAK2	c.4659G>C	NM_138420.3	NP_612429.2:p.(Gln1553His)	NC_000014.8:g.105417129C>G	(Likely) benign	1 lab	ea39c38888
19:15288838 NOTCH3 C>T	19	15288838	15288838	C	T	NOTCH3	c.3901G>A	NM_000435.2	NP_000426.2:p.(Gly1301Ser)	NC_000019.9:g.15288838C>T	VUS	1 lab	ea3a3cfc17
3:33055603 GLB1 C>T	3	33055603	33055603	C	T	GLB1	c.1679G>A	NM_000404.3	NP_000395.2:p.(Ser560Asn)	NC_000003.11:g.33055603C>T	(Likely) benign	1 lab	ea3a7c2dca
22:24167458 SMARCB1 G>A	22	24167458	24167458	G	A	SMARCB1	c.842G>A	NM_003073.3	NP_003064.2:p.(Trp281Ter)	NC_000022.10:g.24167458G>A	(Likely) pathogenic	1 lab	ea3af91ccb
12:56630416 SLC39A5 C>T	12	56630416	56630416	C	T	SLC39A5	c.1093C>T	NM_173596.2	NP_775867.2:p.(Leu365=)	NC_000012.11:g.56630416C>T	(Likely) benign	1 lab	ea3cddf708
11:67815030 TCIRG1 G>A	11	67815030	67815030	G	A	TCIRG1				NC_000011.9:g.67815030G>A	(Likely) benign	1 lab	ea3cfdfccc
21:38308855 HLCS C>T	21	38308855	38308855	C	T	HLCS	c.890G>A	NM_001242784.2	NP_001229713.1:p.(Arg297Gln)	NC_000021.8:g.38308855C>T	(Likely) benign	1 lab	ea3edb633e
11:47365113 MYBPC3 C>T	11	47365113	47365113	C	T	MYBPC3	c.1153G>A	NM_000256.3	NP_000247.2:p.(Val385Met)	NC_000011.9:g.47365113C>T	VUS	1 lab	ea3fba5db0
17:42426551 GRN T>G	17	42426551	42426551	T	G	GRN	c.19T>G	NM_002087.2	NP_002078.1:p.(Trp7Gly)	NC_000017.10:g.42426551T>G	VUS	1 lab	ea4104abc6
18:77475398 CTDP1 G>A	18	77475398	77475398	G	A	CTDP1	c.1938G>A	NM_004715.4	NP_004706.3:p.(Pro646=)	NC_000018.9:g.77475398G>A	(Likely) benign	1 lab	ea41c7c9d9
9:35698422 TLN1 C>A	9	35698422	35698422	C	A	TLN1	c.7269G>T	NM_006289.4	NP_006280.3:p.(Lys2423Asn)	NC_000009.11:g.35698422C>A	VUS	1 lab	ea4369104a
3:186961345 MASP1 G>A	3	186961345	186961345	G	A	MASP1	c.1155C>T	NM_001879.5	NP_001870.3:p.(Asn385=)	NC_000003.11:g.186961345G>A	(Likely) benign	1 lab	ea448821a8
11:124761561 ROBO4 C>T	11	124761561	124761561	C	T	ROBO4	c.1684+1G>A	NM_019055.5	NP_061928.4:p.?	NC_000011.9:g.124761561C>T	(Likely) pathogenic	1 lab	ea44965e88
14:105416402 AHNAK2 GA>G	14	105416402	105416403	GA	G	AHNAK2	c.5385del	NM_138420.4	NP_612429.2:p.(Pro1796GlnfsTer21)	NC_000014.8:g.105416403del	VUS	1 lab	ea44f8b503
22:34000411 LARGE1 C>A	22	34000411	34000411	C	A	LARGE1	c.615+10G>T	NM_004737.5	NP_004728.1:p.?	NC_000022.10:g.34000411C>A	(Likely) benign	1 lab	ea850e65c1
21:47849992 PCNT G>A	21	47849992	47849992	G	A	PCNT	c.7759G>A	NM_006031.5	NP_006022.3:p.(Glu2587Lys)	NC_000021.8:g.47849992G>A	(Likely) benign	1 lab	ea477dbbff
16:30731648 SRCAP A>G	16	30731648	30731648	A	G	SRCAP	c.2983A>G	NM_006662.2	NP_006653.2:p.(Asn995Asp)	NC_000016.9:g.30731648A>G	VUS	1 lab	ea484252dc
2:210769547 UNC80 A>G	2	210769547	210769547	A	G	UNC80	c.4442A>G	NM_032504.1	NP_115893.1:p.(His1481Arg)	NC_000002.11:g.210769547A>G	VUS	1 lab	ea48a0dbbb
15:28460867 HERC2 G>A	15	28460867	28460867	G	A	HERC2	c.6110C>T	NM_004667.5	NP_004658.3:p.(Pro2037Leu)	NC_000015.9:g.28460867G>A	VUS	1 lab	ea4c16a6e7
15:34137075 RYR3 C>A	15	34137075	34137075	C	A	RYR3	c.13309C>A	NM_001036.4	NP_001027.3:p.(Pro4437Thr)	NC_000015.9:g.34137075C>A	VUS	1 lab	ea4ceef837
11:57576792 CTNND1 G>A	11	57576792	57576792	G	A	CTNND1	c.2289G>A	NM_001085458.1	NP_001078927.1:p.(Gln763=)	NC_000011.9:g.57576792G>A	(Likely) benign	1 lab	ea4eb57348
12:133197643 P2RX2 G>A	12	133197643	133197643	G	A	P2RX2	c.831G>A	NM_001282165.1	NP_001269094.1:p.(Ser277=)	NC_000012.11:g.133197643G>A	(Likely) benign	1 lab	ea4f617ca1
16:69905709 WWP2 C>T	16	69905709	69905709	C	T	WWP2	c.578C>T	NM_007014.4	NP_008945.2:p.(Thr193Met)	NC_000016.9:g.69905709C>T	VUS	1 lab	ea5001d9c8
4:10089986 WDR1 A>G	4	10089986	10089986	A	G	WDR1	c.648T>C	NM_017491.4	NP_059830.1:p.(Tyr216=)	NC_000004.11:g.10089986A>G	(Likely) benign	1 lab	ea50d8b85a
2:80646636 CTNNA2 A>G	2	80646636	80646636	A	G	CTNNA2	c.1200A>G	NM_001282597.2	NP_001269526.1:p.(Leu400=)	NC_000002.11:g.80646636A>G	(Likely) benign	1 lab	ea52f59bf2
15:40659817 DISP2 G>T	15	40659817	40659817	G	T	DISP2	c.1504G>T	NM_033510.3	NP_277045.1:p.(Gly502Cys)	NC_000015.9:g.40659817G>T	VUS	1 lab	ea531eff29
17:57775289 PTRH2 G>A	17	57775289	57775289	G	A	PTRH2	c.54C>T	NM_001015509.2	NP_001015509.1:p.(Leu18=)	NC_000017.10:g.57775289G>A	(Likely) benign	1 lab	ea533c97c8
6:42946587 PEX6 G>A	6	42946587	42946587	G	A	PEX6	c.302C>T	NM_000287.3	NP_000278.3:p.(Pro101Leu)	NC_000006.11:g.42946587G>A	VUS	1 lab	ea5425fd26
22:38528929 PLA2G6 C>T	22	38528929	38528929	C	T	PLA2G6	c.452G>A	NM_001349867.1	NP_001336796.1:p.(Arg151His)	NC_000022.10:g.38528929C>T	VUS	1 lab	ea551d8789
15:77025674 SCAPER C>T	15	77025674	77025674	C	T	SCAPER	c.1936G>A	NM_001353009.1	NP_001339938.1:p.(Asp646Asn)	NC_000015.9:g.77025674C>T	VUS	1 lab	ea55480259
19:11327997 DOCK6 C>T	19	11327997	11327997	C	T	DOCK6	c.3621G>A	NM_020812.3	NP_065863.2:p.(Ala1207=)	NC_000019.9:g.11327997C>T	VUS	1 lab	ea5647295b
2:219204577 PNKD G>A	2	219204577	219204577	G	A	PNKD	c.308G>A	NM_015488.4	NP_056303.3:p.(Arg103His)	NC_000002.11:g.219204577G>A	VUS	1 lab	ea58ae48cb
16:53730126 RPGRIP1L C>T	16	53730126	53730126	C	T	RPGRIP1L	c.167G>A	NM_015272.4	NP_056087.2:p.(Arg56His)	NC_000016.9:g.53730126C>T	VUS	1 lab	ea5900fa4f
X:24024511 KLHL15 G>T	X	24024511	24024511	G	T	KLHL15	c.300C>A	NM_030624.2	NP_085127.2:p.(Thr100=)	NC_000023.10:g.24024511G>T	(Likely) benign	1 lab	ea59563804
13:103705040 SLC10A2 A>G	13	103705040	103705040	A	G	SLC10A2	c.515T>C	NM_000452.2	NP_000443.1:p.(Leu172Pro)	NC_000013.10:g.103705040A>G	VUS	1 lab	ea59a9bee2
5:56160643 MAP3K1 G>A	5	56160643	56160643	G	A	MAP3K1	c.917G>A	NM_005921.1	NP_005912.1:p.(Arg306His)	NC_000005.9:g.56160643G>A	VUS	1 lab	ea5fa89b43
11:6635926 TPP1 G>A	11	6635926	6635926	G	A	TPP1	c.1552-9C>T	NM_000391.3	NP_000382.3:p.?	NC_000011.9:g.6635926G>A	(Likely) benign	1 lab	ea6182019a
X:106359921 RBM41 G>C	X	106359921	106359921	G	C	RBM41	c.189C>G	NM_001324243.1	NP_001311172.1:p.(Ser63Arg)	NC_000023.10:g.106359921G>C	(Likely) benign	1 lab	ea6246fdaf
1:16237704 SPEN G>A	1	16237704	16237704	G	A	SPEN	c.1151G>A	NM_015001.2	NP_055816.2:p.(Arg384Gln)	NC_000001.10:g.16237704G>A	VUS	1 lab	ea6840e62b
7:141341687 AGK G>A	7	141341687	141341687	G	A	AGK	c.954G>A	NM_018238.4	NP_060708.1:p.(Arg318=)	NC_000007.13:g.141341687G>A	(Likely) benign	1 lab	ea6b55daaf
10:16982167 CUBN C>A	10	16982167	16982167	C	A	CUBN	c.5412G>T	NM_001081.3	NP_001072.2:p.(Thr1804=)	NC_000010.10:g.16982167C>A	(Likely) benign	1 lab	ea6ccf0619
20:30411290 MYLK2 G>A	20	30411290	30411290	G	A	MYLK2	c.783G>A	NM_033118.3	NP_149109.1:p.(Pro261=)	NC_000020.10:g.30411290G>A	(Likely) benign	1 lab	ea6d363b5b
13:32929301 BRCA2 T>A	13	32929301	32929301	T	A	BRCA2	c.7311T>A	NM_000059.3	NP_000050.2:p.(Ile2437=)	NC_000013.10:g.32929301T>A	(Likely) benign	1 lab	ea6d9e7ffc
11:22249065 ANO5 A>G	11	22249065	22249065	A	G	ANO5	c.581A>G	NM_213599.2	NP_998764.1:p.(His194Arg)	NC_000011.9:g.22249065A>G	(Likely) benign	1 lab	ea6e4f1e66
3:127335841 MCM2 G>A	3	127335841	127335841	G	A	MCM2	c.1653G>A	NM_004526.3	NP_004517.2:p.(Ala551=)	NC_000003.11:g.127335841G>A	(Likely) benign	1 lab	ea6f2f0508
9:14824109 FREM1 A>G	9	14824109	14824109	A	G	FREM1	c.2083T>C	NM_144966.5	NP_659403.4:p.(Leu695=)	NC_000009.11:g.14824109A>G	(Likely) benign	1 lab	ea71664fd8
1:165218851 LMX1A C>G	1	165218851	165218851	C	G	LMX1A	c.290G>C	NM_177398.4	NP_796372.1:p.(Cys97Ser)	NC_000001.10:g.165218851C>G	VUS	1 lab	ea728d495e
11:19204206 CSRP3 G>A	11	19204206	19204206	G	A	CSRP3				NC_000011.9:g.19204206G>A	VUS	1 lab	ea7307017b
18:6971872 LAMA1 G>A	18	6971872	6971872	G	A	LAMA1	c.6883C>T	NM_005559.3	NP_005550.2:p.(Arg2295Cys)	NC_000018.9:g.6971872G>A	(Likely) benign	1 lab	ea7424982f
9:135782690 TSC1 G>C	9	135782690	135782690	G	C	TSC1	c.1331C>G	NM_000368.4	NP_000359.1:p.(Ser444Ter)	NC_000009.11:g.135782690G>C	(Likely) pathogenic	1 lab	ea749a8ec5
X:15582309 ACE2 C>T	X	15582309	15582309	C	T	ACE2	c.2147G>A	NM_021804.2	NP_068576.1:p.(Arg716His)	NC_000023.10:g.15582309C>T	(Likely) benign	1 lab	ea7502ff90
13:114526356 GAS6 T>G	13	114526356	114526356	T	G	GAS6	c.1645A>C	NM_000820.3	NP_000811.1:p.(Lys549Gln)	NC_000013.10:g.114526356T>G	VUS	1 lab	ea789258fc
9:139400040 NOTCH1 G>A	9	139400040	139400040	G	A	NOTCH1	c.4308C>T	NM_017617.5	NP_060087.3:p.(Ala1436=)	NC_000009.11:g.139400040G>A	(Likely) benign	1 lab	ea7961b6cd
1:197071028 ASPM C>T	1	197071028	197071028	C	T	ASPM	c.7353G>A	NM_018136.4	NP_060606.3:p.(Leu2451=)	NC_000001.10:g.197071028C>T	(Likely) benign	1 lab	ea7980f873
14:60193657 RTN1 A>G	14	60193657	60193657	A	G	RTN1	c.1745T>C	NM_021136.2	NP_066959.1:p.(Leu582Pro)	NC_000014.8:g.60193657A>G	(Likely) benign	1 lab	ea7a35ede3
17:29685957 NF1 G>A	17	29685957	29685957	G	A	NF1	c.8051-30G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29685957G>A	(Likely) benign	1 lab	ea7a75c05f
X:25031624 ARX T>G	X	25031624	25031624	T	G	ARX	c.488A>C	NM_139058.2	NP_620689.1:p.(Gln163Pro)	NC_000023.10:g.25031624T>G	VUS	1 lab	ea7bc85ab9
X:152914751 DUSP9 C>T	X	152914751	152914751	C	T	DUSP9	c.438C>T	NM_001318503.2	NP_001305432.1:p.(Ala146=)	NC_000023.10:g.152914751C>T	(Likely) benign	1 lab	ea7c904c6e
15:85407821 ALPK3 A>G	15	85407821	85407821	A	G	ALPK3	c.5254A>G	NM_020778.4	NP_065829.3:p.(Met1752Val)	NC_000015.9:g.85407821A>G	(Likely) benign	1 lab	ea7ff6c1de
9:14797612 FREM1 GTCA>G	9	14797612	14797619	GTCA	G	FREM1	c.3720_3722del	NM_001379081.2	NP_001366010.1:p.(Asp1241del)	NC_000009.11:g.14797617_14797619del	VUS	1 lab	ea7fffcdbe
X:13754755 OFD1 A>C	X	13754755	13754755	A	C	OFD1	c.270A>C	NM_003611.2	NP_003602.1:p.(Ser90=)	NC_000023.10:g.13754755A>C	(Likely) benign	1 lab	ea803c4ec1
15:44944400 SPG11 C>A	15	44944400	44944400	C	A	SPG11	c.934G>T	NM_025137.3	NP_079413.3:p.(Gly312Cys)	NC_000015.9:g.44944400C>A	VUS	1 lab	ea818dfd49
X:48547170 WAS AC>A	X	48547170	48547175	AC	A	WAS	c.1058del	NM_000377.3	NP_000368.1:p.(Pro353HisfsTer92)	NC_000023.10:g.48547175del	(Likely) pathogenic	1 lab	ea83c1ea34
9:127262992 NR5A1 C>T	9	127262992	127262992	C	T	NR5A1	c.247G>A	NM_004959.4	NP_004950.2:p.(Val83Met)	NC_000009.11:g.127262992C>T	VUS	1 lab	ea8687dfed
17:18022507 MYO15A C>G	17	18022507	18022507	C	G	MYO15A	c.393C>G	NM_016239.3	NP_057323.3:p.(Ser131=)	NC_000017.10:g.18022507C>G	(Likely) benign	1 lab	ea888a753a
7:34094848 BMPER A>G	7	34094848	34094848	A	G	BMPER	c.860A>G	NM_133468.5	NP_597725.1:p.(Glu287Gly)	NC_000007.13:g.34094848A>G	VUS	1 lab	ea8a10df6e
17:27086733 FAM222B C>T	17	27086733	27086733	C	T	FAM222B	c.250G>A	NM_001288631.1	NP_001275560.1:p.(Asp84Asn)	NC_000017.10:g.27086733C>T	VUS	1 lab	ea8acd0bc7
1:152282495 FLG G>T	1	152282495	152282495	G	T	FLG	c.4867C>A	NM_002016.1	NP_002007.1:p.(Arg1623=)	NC_000001.10:g.152282495G>T	(Likely) benign	1 lab	ea8bb5cadb
17:29676142 NF1 C>G	17	29676142	29676142	C	G	NF1	c.7131C>G	NM_000267.3	NP_000258.1:p.(Tyr2377Ter)	NC_000017.10:g.29676142C>G	(Likely) pathogenic	1 lab	ea8c006f07
6:152738068 SYNE1 C>T	6	152738068	152738068	C	T	SYNE1	c.5504G>A	NM_182961.3	NP_892006.3:p.(Arg1835His)	NC_000006.11:g.152738068C>T	(Likely) benign	1 lab	ea8c1067dc
11:8667991 TRIM66 T>C	11	8667991	8667991	T	C	TRIM66	c.522+3A>G	NM_014818.1	NP_055633.1:p.?	NC_000011.9:g.8667991T>C	(Likely) benign	1 lab	ea8c7e9bae
15:23892221 MAGEL2 GGGAGGATGAGCCATCGGTGTCCCCGGAGGT>G	15	23892221	23892280	GGGAGGATGAGCCATCGGTGTCCCCGGAGGT	G	MAGEL2	c.639_668del	NM_019066.5	NP_061939.3:p.(His221_Ala230del)	NC_000015.9:g.23892251_23892280del	(Likely) benign	1 lab	ea90e58750
X:32408226 DMD C>G	X	32408226	32408226	C	G	DMD	c.3937G>C	NM_004010.3	NP_004001.1:p.(Ala1313Pro)	NC_000023.10:g.32408226C>G	(Likely) benign	1 lab	ea922f0ed6
5:11346546 CTNND2 A>G	5	11346546	11346546	A	G	CTNND2	c.1566T>C	NM_001332.3	NP_001323.1:p.(Ala522=)	NC_000005.9:g.11346546A>G	(Likely) benign	1 lab	ea92412e17
1:36941178 CSF3R T>C	1	36941178	36941178	T	C	CSF3R	c.161A>G	NM_156039.3	NP_724781.1:p.(His54Arg)	NC_000001.10:g.36941178T>C	(Likely) benign	1 lab	ea933c5db4
9:14784547 FREM1 G>A	9	14784547	14784547	G	A	FREM1	c.4263C>T	NM_144966.5	NP_659403.4:p.(Asp1421=)	NC_000009.11:g.14784547G>A	(Likely) benign	1 lab	ea935bdef6
3:78649383 ROBO1 C>T	3	78649383	78649383	C	T	ROBO1	c.4686G>A	NM_133631.3	NP_598334.2:p.(Met1562Ile)	NC_000003.11:g.78649383C>T	(Likely) benign	1 lab	ea94573cc5
19:45867223 ERCC2 C>T	19	45867223	45867223	C	T	ERCC2	c.949+21G>A	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45867223C>T	(Likely) benign	1 lab	ea946425ed
11:33796031 FBXO3 C>A	11	33796031	33796031	C	A	FBXO3	c.13G>T	NM_012175.4	NP_036307.2:p.(Glu5Ter)	NC_000011.9:g.33796031C>A	VUS	1 lab	ea94dba04d
2:113416531 SLC20A1 C>T	2	113416531	113416531	C	T	SLC20A1	c.908C>T	NM_005415.4	NP_005406.3:p.(Pro303Leu)	NC_000002.11:g.113416531C>T	VUS	1 lab	ea955a6d43
12:109702907 ACACB G>A	12	109702907	109702907	G	A	ACACB	c.6943-8G>A	NM_001093.3	NP_001084.3:p.?	NC_000012.11:g.109702907G>A	(Likely) benign	1 lab	ea9567f543
2:220081140 ABCB6 C>T	2	220081140	220081140	C	T	ABCB6	c.916G>A	NM_005689.2	NP_005680.1:p.(Val306Ile)	NC_000002.11:g.220081140C>T	(Likely) benign	1 lab	ea9830a789
2:27424850 MISSING A>G	2	27424850	27424850	A	G	MISSING				NC_000002.11:g.27424850A>G	VUS	1 lab	ea98b3b6b9
11:63987363 FERMT3 G>A	11	63987363	63987363	G	A	FERMT3	c.1092G>A	NM_178443.2	NP_848537.1:p.(Arg364=)	NC_000011.9:g.63987363G>A	(Likely) benign	1 lab	ea9aa520d5
1:5964799 NPHP4 C>T	1	5964799	5964799	C	T	NPHP4	c.2021G>A	NM_015102.4	NP_055917.1:p.(Arg674His)	NC_000001.10:g.5964799C>T	VUS	1 lab	ea9afb9ff6
2:204820393 ICOS T>C	2	204820393	204820393	T	C	ICOS	c.93T>C	NM_012092.3	NP_036224.1:p.(Phe31=)	NC_000002.11:g.204820393T>C	(Likely) benign	1 lab	ea9cabca29
3:132379401 UBA5 G>A	3	132379401	132379401	G	A	UBA5	c.20G>A	NM_024818.4	NP_079094.1:p.(Arg7His)	NC_000003.11:g.132379401G>A	VUS	1 lab	ea9e2b472a
X:12735218 FRMPD4 C>T	X	12735218	12735218	C	T	FRMPD4	c.2640C>T	NM_014728.3	NP_055543.2:p.(Ser880=)	NC_000023.10:g.12735218C>T	(Likely) benign	1 lab	ea9e306c98
15:55520873 RAB27A T>C	15	55520873	55520873	T	C	RAB27A	c.277A>G	NM_004580.4	NP_004571.2:p.(Met93Val)	NC_000015.9:g.55520873T>C	VUS	1 lab	ea9e8fb5cd
16:2138617 TSC2 G>A	16	2138617	2138617	G	A	TSC2	c.*6G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138617G>A	(Likely) benign	1 lab	ea9edc5887
9:117165528 WHRN C>T	9	117165528	117165528	C	T	WHRN	c.2510G>A	NM_015404.3	NP_056219.3:p.(Arg837His)	NC_000009.11:g.117165528C>T	VUS	1 lab	ea9edd7b02
7:99702556 AP4M1 C>T	7	99702556	99702556	C	T	AP4M1	c.666C>T	NM_004722.3	NP_004713.2:p.(Ser222=)	NC_000007.13:g.99702556C>T	(Likely) benign	1 lab	ea9fbb55ee
14:76549593 IFT43 C>T	14	76549593	76549593	C	T	IFT43	c.483C>T	NM_052873.2	NP_443105.2:p.(Leu161=)	NC_000014.8:g.76549593C>T	(Likely) benign	1 lab	eaa0e72054
1:22183641 HSPG2 C>T	1	22183641	22183641	C	T	HSPG2	c.5445G>A	NM_001291860.1	NP_001278789.1:p.(Leu1815=)	NC_000001.10:g.22183641C>T	(Likely) benign	1 lab	eaa151665f
5:128977661 ADAMTS19 A>AT	5	128977661	128977664	A	AT	ADAMTS19	c.1872+11dup	NM_133638.4	NP_598377.4:p.?	NC_000005.9:g.128977664dup	(Likely) benign	1 lab	eaa185fd98
16:2143883 PKD1 C>T	16	2143883	2143883	C	T	PKD1	c.10750G>A	NM_001009944.2	NP_001009944.2:p.(Val3584Met)	NC_000016.9:g.2143883C>T	VUS	1 lab	eab3b561c6
3:142253979 ATR A>G	3	142253979	142253979	A	G	ATR	c.3888T>C	NM_001184.3	NP_001175.2:p.(Asn1296=)	NC_000003.11:g.142253979A>G	(Likely) benign	1 lab	eaa2d21251
18:55274883 NARS1 A>C	18	55274883	55274883	A	C	NARS1	c.594T>G	NM_004539.4	NP_004530.1:p.(His198Gln)	NC_000018.9:g.55274883A>C	VUS	1 lab	eaa7bfc48c
7:91641829 AKAP9 G>A	7	91641829	91641829	G	A	AKAP9	c.3405G>A	NM_005751.4	NP_005742.4:p.(Met1135Ile)	NC_000007.13:g.91641829G>A	VUS	1 lab	eaa97c1d86
2:198570930 MARS2 G>C	2	198570930	198570930	G	C	MARS2	c.801G>C	NM_138395.3	NP_612404.1:p.(Pro267=)	NC_000002.11:g.198570930G>C	(Likely) benign	1 lab	eaaa07ce6d
1:9099966 SLC2A5 C>G	1	9099966	9099966	C	G	SLC2A5	c.778G>C	NM_003039.2	NP_003030.1:p.(Ala260Pro)	NC_000001.10:g.9099966C>G	(Likely) benign	1 lab	eaaa3d4d4f
1:237778016 RYR2 C>T	1	237778016	237778016	C	T	RYR2	c.5588C>T	NM_001035.2	NP_001026.2:p.(Thr1863Met)	NC_000001.10:g.237778016C>T	(Likely) benign	1 lab	eaaae2be37
1:114391217 PTPN22 A>G	1	114391217	114391217	A	G	PTPN22	c.860T>C	NM_015967.6	NP_057051.3:p.(Leu287Ser)	NC_000001.10:g.114391217A>G	(Likely) benign	1 lab	eaac9156de
2:112732860 MERTK G>GT	2	112732860	112732863	G	GT	MERTK	c.961-3dup	NM_006343.2	NP_006334.2:p.?	NC_000002.11:g.112732863dup	(Likely) benign	1 lab	eab00d38cb
9:135939823 CEL G>A	9	135939823	135939823	G	A	CEL	c.108G>A	NM_001807.4	NP_001798.2:p.(Val36=)	NC_000009.11:g.135939823G>A	(Likely) benign	1 lab	eab55b2ab2
3:14206958 XPC T>C	3	14206958	14206958	T	C	XPC	c.749A>G	NM_004628.4	NP_004619.3:p.(Asp250Gly)	NC_000003.11:g.14206958T>C	VUS	1 lab	eab62ad6fa
5:150914120 FAT2 G>A	5	150914120	150914120	G	A	FAT2	c.9277C>T	NM_001447.2	NP_001438.1:p.(Arg3093Ter)	NC_000005.9:g.150914120G>A	VUS	1 lab	eab6ed71b0
16:2112030 TSC2 G>A	16	2112030	2112030	G	A	TSC2	c.1257+21G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112030G>A	(Likely) pathogenic	1 lab	eab807dc4b
16:67650711 CTCF G>A	16	67650711	67650711	G	A	CTCF	c.1016G>A	NM_006565.3	NP_006556.1:p.(Arg339Gln)	NC_000016.9:g.67650711G>A	(Likely) pathogenic	1 lab	eab9e7643e
17:29663875 NF1 G>T	17	29663875	29663875	G	T	NF1	c.6307G>T	NM_000267.3	NP_000258.1:p.(Gly2103Ter)	NC_000017.10:g.29663875G>T	(Likely) pathogenic	1 lab	eabb5483b0
X:153762710 G6PD C>T	X	153762710	153762710	C	T	G6PD	c.577G>A	NM_000402.4	NP_000393.4:p.(Gly193Ser)	NC_000023.10:g.153762710C>T	VUS	1 lab	eabc5b86bd
19:46088097 OPA3 C>T	19	46088097	46088097	C	T	OPA3	c.-75G>A	NM_025136.3	NP_079412.1:p.?	NC_000019.9:g.46088097C>T	(Likely) benign	1 lab	27169c9a2a
1:215799182 USH2A T>G	1	215799182	215799182	T	G	USH2A	c.15550A>C	NM_206933.2	NP_996816.2:p.(Ile5184Leu)	NC_000001.10:g.215799182T>G	VUS	1 lab	eac2120368
11:31805038 ELP4 T>C	11	31805038	31805038	T	C	ELP4	c.1241T>C	NM_019040.4	NP_061913.3:p.(Met414Thr)	NC_000011.9:g.31805038T>C	(Likely) benign	1 lab	eac328e3ed
14:36989250 NKX2-1 G>A	14	36989250	36989250	G	A	NKX2-1	c.77+8C>T	NM_001079668.2	NP_001073136.1:p.?	NC_000014.8:g.36989250G>A	(Likely) benign	1 lab	eac32f8d27
X:150840826 PASD1 C>T	X	150840826	150840826	C	T	PASD1	c.1609C>T	NM_173493.2	NP_775764.2:p.(Arg537Trp)	NC_000023.10:g.150840826C>T	(Likely) benign	1 lab	eac4f788e6
2:37873286 CDC42EP3 T>C	2	37873286	37873286	T	C	CDC42EP3	c.445A>G	NM_006449.4	NP_006440.2:p.(Met149Val)	NC_000002.11:g.37873286T>C	(Likely) benign	1 lab	eac5b545ce
15:66679741 MAP2K1 C>G	15	66679741	66679741	C	G	MAP2K1	c.56C>G	NM_002755.3	NP_002746.1:p.(Ala19Gly)	NC_000015.9:g.66679741C>G	(Likely) benign	1 lab	eac72f13c9
3:100963593 IMPG2 T>C	3	100963593	100963593	T	C	IMPG2	c.1582A>G	NM_016247.3	NP_057331.2:p.(Ile528Val)	NC_000003.11:g.100963593T>C	VUS	1 lab	eac7fe15e5
16:2107164 TSC2 A>C	16	2107164	2107164	A	C	TSC2	c.833A>C	NM_000548.3	NP_000539.2:p.(His278Pro)	NC_000016.9:g.2107164A>C	(Likely) pathogenic	1 lab	eacc863779
X:6452129 VCX3A G>A	X	6452129	6452129	G	A	VCX3A	c.218C>T	NM_016379.3	NP_057463.2:p.(Ala73Val)	NC_000023.10:g.6452129G>A	VUS	1 lab	eacc890b1d
X:105449431 PWWP3B G>A	X	105449431	105449431	G	A	PWWP3B	c.6G>A	NM_152423.4	NP_689636.3:p.(Glu2=)	NC_000023.10:g.105449431G>A	(Likely) benign	1 lab	eacf71e2e8
10:24959196 ARHGAP21 C>T	10	24959196	24959196	C	T	ARHGAP21	c.194G>A	NM_020824.4	NP_065875.3:p.(Arg65Lys)	NC_000010.10:g.24959196C>T	VUS	1 lab	eacf9cc05c
8:10474085 RP1L1 G>A	8	10474085	10474085	G	A	RP1L1	c.622C>T	NM_178857.5	NP_849188.4:p.(Gln208Ter)	NC_000008.10:g.10474085G>A	(Likely) pathogenic	1 lab	eacfa95aea
3:10387099 ATP2B2 A>G	3	10387099	10387099	A	G	ATP2B2	c.2537T>C	NM_001330611.2	NP_001317540.1:p.(Ile846Thr)	NC_000003.11:g.10387099A>G	VUS	1 lab	ead028049f
3:49700310 BSN G>A	3	49700310	49700310	G	A	BSN	c.10719G>A	NM_003458.3	NP_003449.2:p.(Ala3573=)	NC_000003.11:g.49700310G>A	(Likely) benign	1 lab	ead4008b9b
1:213037208 FLVCR1 A>G	1	213037208	213037208	A	G	FLVCR1	c.880A>G	NM_014053.3	NP_054772.1:p.(Ile294Val)	NC_000001.10:g.213037208A>G	(Likely) benign	1 lab	ead55703df
5:13751209 DNAH5 C>G	5	13751209	13751209	C	G	DNAH5	c.11189G>C	NM_001369.2	NP_001360.1:p.(Arg3730Thr)	NC_000005.9:g.13751209C>G	VUS	1 lab	ead603f0b1
16:2136839 TSC2 C>T	16	2136839	2136839	C	T	TSC2	c.4956C>T	NM_000548.3	NP_000539.2:p.(Asp1652=)	NC_000016.9:g.2136839C>T	(Likely) benign	1 lab	ead68bc422
16:2112602 TSC2 G>A	16	2112602	2112602	G	A	TSC2	c.1361+1G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112602G>A	(Likely) pathogenic	1 lab	ead6ef5c0d
20:47592649 ARFGEF2 C>T	20	47592649	47592649	C	T	ARFGEF2	c.1871C>T	NM_006420.2	NP_006411.2:p.(Ser624Leu)	NC_000020.10:g.47592649C>T	VUS	1 lab	ead8bb1983
13:25478079 CPAP G>A	13	25478079	25478079	G	A	CPAP	c.2810C>T	NM_018451.4	NP_060921.3:p.(Ala937Val)	NC_000013.10:g.25478079G>A	(Likely) benign	1 lab	ead8d933a8
17:29496932 NF1 C>G	17	29496932	29496932	C	G	NF1	c.503C>G	NM_000267.3	NP_000258.1:p.(Ser168Ter)	NC_000017.10:g.29496932C>G	(Likely) pathogenic	1 lab	ead9e39ad4
2:170163815 LRP2 C>T	2	170163815	170163815	C	T	LRP2	c.403G>A	NM_004525.3	NP_004516.2:p.(Asp135Asn)	NC_000002.11:g.170163815C>T	(Likely) benign	1 lab	eadaaaee1e
21:27347406 APP C>T	21	27347406	27347406	C	T	APP	c.1435G>A	NM_000484.3	NP_000475.1:p.(Ala479Thr)	NC_000021.8:g.27347406C>T	VUS	1 lab	eadb56a2ba
X:153539344 TKTL1 A>G	X	153539344	153539344	A	G	TKTL1	c.508A>G	NM_012253.3	NP_036385.3:p.(Ile170Val)	NC_000023.10:g.153539344A>G	(Likely) benign	1 lab	eadcab8d39
14:105417273 AHNAK2 C>T	14	105417273	105417273	C	T	AHNAK2	c.4515G>A	NM_138420.3	NP_612429.2:p.(Val1505=)	NC_000014.8:g.105417273C>T	(Likely) benign	1 lab	eadccc9999
X:71363121 NHSL2 C>T	X	71363121	71363121	C	T	NHSL2	c.3375C>T	NM_001013627.2	NP_001013649.2:p.(Leu1125=)	NC_000023.10:g.71363121C>T	(Likely) benign	1 lab	eae0e1e60e
X:54785170 ITIH6 C>G	X	54785170	54785170	C	G	ITIH6	c.1337G>C	NM_198510.2	NP_940912.1:p.(Arg446Pro)	NC_000023.10:g.54785170C>G	(Likely) benign	1 lab	eae1d33505
X:24732779 POLA1 C>T	X	24732779	24732779	C	T	POLA1	c.455C>T	NM_001330360.1	NP_001317289.1:p.(Thr152Ile)	NC_000023.10:g.24732779C>T	(Likely) benign	1 lab	eae79b605e
11:36615352 RAG2 G>A	11	36615352	36615352	G	A	RAG2	c.367C>T	NM_001243786.1	NP_001230715.1:p.(Arg123Cys)	NC_000011.9:g.36615352G>A	VUS	1 lab	eae84c6e2d
3:132203494 DNAJC13 C>T	3	132203494	132203494	C	T	DNAJC13	c.3260C>T	NM_001329126.1	NP_001316055.1:p.(Thr1087Ile)	NC_000003.11:g.132203494C>T	(Likely) benign	1 lab	eae86d508b
6:139206916 ECT2L C>T	6	139206916	139206916	C	T	ECT2L	c.2208C>T	NM_001077706.2	NP_001071174.1:p.(Asp736=)	NC_000006.11:g.139206916C>T	(Likely) benign	1 lab	eaea1ea91c
3:142985627 SLC9A9 C>G	3	142985627	142985627	C	G	SLC9A9	c.1855G>C	NM_173653.3	NP_775924.1:p.(Glu619Gln)	NC_000003.11:g.142985627C>G	(Likely) benign	1 lab	eaea3153f4
X:32663118 DMD T>C	X	32663118	32663118	T	C	DMD	c.743A>G	NM_004010.3	NP_004001.1:p.(Asp248Gly)	NC_000023.10:g.32663118T>C	VUS	1 lab	eaea710361
12:133198219 P2RX2 C>T	12	133198219	133198219	C	T	P2RX2	c.1155C>T	NM_170683.3	NP_733783.1:p.(Cys385=)	NC_000012.11:g.133198219C>T	(Likely) benign	1 lab	eaebd91bb9
17:29325766 RNF135 C>T	17	29325766	29325766	C	T	RNF135	c.856C>T	NM_032322.3	NP_115698.3:p.(Arg286Cys)	NC_000017.10:g.29325766C>T	(Likely) benign	1 lab	eaec618220
9:140441821 PNPLA7 G>A	9	140441821	140441821	G	A	PNPLA7	c.133C>T	NM_001098537.3	NP_001092007.2:p.(Leu45=)	NC_000009.11:g.140441821G>A	(Likely) benign	1 lab	eaeeb676b3
19:35450179 ZNF792 G>T	19	35450179	35450179	G	T	ZNF792	c.580C>A	NM_175872.5	NP_787068.3:p.(Gln194Lys)	NC_000019.9:g.35450179G>T	(Likely) benign	1 lab	eaf0798d24
13:25487103 CPAP T>C	13	25487103	25487103	T	C	CPAP	c.61A>G	NM_018451.4	NP_060921.3:p.(Met21Val)	NC_000013.10:g.25487103T>C	(Likely) benign	1 lab	eaf0a7952a
16:89828410 FANCA T>C	16	89828410	89828410	T	C	FANCA	c.2799A>G	NM_001286167.2	NP_001273096.1:p.(Leu933=)	NC_000016.9:g.89828410T>C	(Likely) benign	1 lab	eaf21d895d
6:158454625 SYNJ2 C>T	6	158454625	158454625	C	T	SYNJ2	c.624C>T	NM_003898.3	NP_003889.1:p.(Arg208=)	NC_000006.11:g.158454625C>T	(Likely) benign	1 lab	eaf28963dc
15:66996130 SMAD6 G>C	15	66996130	66996130	G	C	SMAD6	c.534G>C	NM_005585.4	NP_005576.3:p.(Ser178=)	NC_000015.9:g.66996130G>C	(Likely) benign	1 lab	eaf3486427
X:150789995 PASD1 G>A	X	150789995	150789995	G	A	PASD1	c.349G>A	NM_173493.2	NP_775764.2:p.(Val117Ile)	NC_000023.10:g.150789995G>A	(Likely) benign	1 lab	eaf51c67cd
X:47061812 UBA1 A>G	X	47061812	47061812	A	G	UBA1	c.965A>G	NM_003334.4	NP_003325.2:p.(Lys322Arg)	NC_000023.10:g.47061812A>G	(Likely) benign	1 lab	eaf5eff33d
11:17633864 OTOG C>G	11	17633864	17633864	C	G	OTOG	c.6315C>G	NM_001277269.1	NP_001264198.1:p.(Leu2105=)	NC_000011.9:g.17633864C>G	(Likely) benign	1 lab	eaf7a52b4a
17:29661914 NF1 TC>T	17	29661914	29661915	TC	T	NF1	c.5872del	NM_001042492.3	NP_001035957.1:p.(Arg1958ValfsTer21)	NC_000017.10:g.29661915del	(Likely) pathogenic	1 lab	eafb3fee87
17:13980134 COX10 C>T	17	13980134	13980134	C	T	COX10	c.260C>T	NM_001303.3	NP_001294.2:p.(Thr87Ile)	NC_000017.10:g.13980134C>T	(Likely) benign	1 lab	eafcf20fec
11:118375740 KMT2A C>T	11	118375740	118375740	C	T	KMT2A	c.9133C>T	NM_001197104.1	NP_001184033.1:p.(Gln3045Ter)	NC_000011.9:g.118375740C>T	(Likely) pathogenic	1 lab	eafe3b3bb5
21:43161111 RIPK4 C>T	21	43161111	43161111	C	T	RIPK4	c.2242G>A	NM_020639.2	NP_065690.2:p.(Ala748Thr)	NC_000021.8:g.43161111C>T	(Likely) benign	1 lab	eaff83557e
4:39280192 WDR19 T>C	4	39280192	39280192	T	C	WDR19	c.3951T>C	NM_025132.3	NP_079408.3:p.(Cys1317=)	NC_000004.11:g.39280192T>C	(Likely) benign	1 lab	eaffb58ea9
4:149075941 NR3C2 G>A	4	149075941	149075941	G	A	NR3C2	c.2126C>T	NM_000901.4	NP_000892.2:p.(Thr709Met)	NC_000004.11:g.149075941G>A	VUS	1 lab	eb0083f045
9:135785960 TSC1 TC>T	9	135785960	135785962	TC	T	TSC1	c.1260del	NM_000368.5	NP_000359.1:p.(Lys421ArgfsTer19)	NC_000009.11:g.135785962del	(Likely) pathogenic	1 lab	eb027772dc
17:29576138 NF1 G>A	17	29576138	29576138	G	A	NF1	c.4110+1G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29576138G>A	(Likely) pathogenic	1 lab	eb02c3c051
3:108070713 HHLA2 G>A	3	108070713	108070713	G	A	HHLA2	c.53G>A	NM_007072.3	NP_009003.1:p.(Ser18Asn)	NC_000003.11:g.108070713G>A	(Likely) benign	1 lab	eb04b6eee4
2:1684064 PXDN C>T	2	1684064	1684064	C	T	PXDN	c.631G>A	NM_012293.2	NP_036425.1:p.(Ala211Thr)	NC_000002.11:g.1684064C>T	VUS	1 lab	eb060523a9
14:51196406 NIN C>T	14	51196406	51196406	C	T	NIN	c.5913G>A	NM_020921.3	NP_065972.3:p.(Pro1971=)	NC_000014.8:g.51196406C>T	(Likely) benign	1 lab	eb065bf8a4
16:48239443 ABCC11 G>T	16	48239443	48239443	G	T	ABCC11	c.1686C>A	NM_033151.3	NP_149163.2:p.(His562Gln)	NC_000016.9:g.48239443G>T	(Likely) benign	1 lab	eb0781b7cf
9:96860237 PTPDC1 G>A	9	96860237	96860237	G	A	PTPDC1	c.1227G>A	NM_177995.2	NP_818931.1:p.(Glu409=)	NC_000009.11:g.96860237G>A	(Likely) benign	1 lab	eb09b83e53
9:139311550 PMPCA G>A	9	139311550	139311550	G	A	PMPCA	c.781G>A	NM_015160.2	NP_055975.1:p.(Glu261Lys)	NC_000009.11:g.139311550G>A	VUS	1 lab	eb0a5bfc1e
7:116411646 MET C>T	7	116411646	116411646	C	T	MET	c.2879C>T	NM_001127500.1	NP_001120972.1:p.(Ser960Leu)	NC_000007.13:g.116411646C>T	(Likely) benign	1 lab	eb0b19920e
11:17653756 OTOG G>A	11	17653756	17653756	G	A	OTOG	c.7091G>A	NM_001277269.1	NP_001264198.1:p.(Arg2364Gln)	NC_000011.9:g.17653756G>A	VUS	1 lab	eb0c8490c5
1:50887044 DMRTA2 T>C	1	50887044	50887044	T	C	DMRTA2	c.165A>G	NM_032110.3	NP_115486.1:p.(Pro55=)	NC_000001.10:g.50887044T>C	(Likely) benign	1 lab	eb0ccca223
4:114274965 ANK2 G>T	4	114274965	114274965	G	T	ANK2	c.5191G>T	NM_001148.4	NP_001139.3:p.(Gly1731Cys)	NC_000004.11:g.114274965G>T	(Likely) benign	1 lab	eb0db119bc
19:38126134 ZFP30 T>C	19	38126134	38126134	T	C	ZFP30	c.1308A>G	NM_001320666.2	NP_001307595.1:p.(Lys436=)	NC_000019.9:g.38126134T>C	(Likely) benign	1 lab	eb0ebc5df4
1:216061963 USH2A C>T	1	216061963	216061963	C	T	USH2A	c.8028G>A	NM_206933.2	NP_996816.2:p.(Pro2676=)	NC_000001.10:g.216061963C>T	(Likely) benign	1 lab	eb0f8dd154
11:26547203 ANO3 C>T	11	26547203	26547203	C	T	ANO3	c.714C>T	NM_031418.4	NP_113606.2:p.(Asp238=)	NC_000011.9:g.26547203C>T	(Likely) benign	1 lab	eb0fa3b58f
6:26033685 H2AC4 C>T	6	26033685	26033685	C	T	H2AC4	c.112G>A	NM_003513.2	NP_003504.2:p.(Gly38Ser)	NC_000006.11:g.26033685C>T	VUS	1 lab	eb0fd43cc9
7:107710195 LAMB4 GC>G	7	107710195	107710197	GC	G	LAMB4	c.2259del	NM_007356.3	NP_031382.2:p.(Arg753SerfsTer2)	NC_000007.13:g.107710197del	VUS	1 lab	eb10676ac8
19:47290794 SLC1A5 C>T	19	47290794	47290794	C	T	SLC1A5	c.429G>A	NM_005628.3	NP_005619.1:p.(Ser143=)	NC_000019.9:g.47290794C>T	(Likely) benign	1 lab	eb1089874e
X:13753364 OFD1 T>C	X	13753364	13753364	T	C	OFD1	c.-533-3T>C	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13753364T>C	(Likely) benign	1 lab	eb110a6efb
X:138644190 F9 G>A	X	138644190	138644190	G	A	F9	c.1346G>A	NM_000133.3	NP_000124.1:p.(Arg449Gln)	NC_000023.10:g.138644190G>A	(Likely) benign	1 lab	eb124d1efc
10:85981710 LRIT2 T>TC	10	85981710	85981715	T	TC	LRIT2	c.1648dup	NM_001284223.1	NP_001271152.1:p.(Asp550GlyfsTer28)	NC_000010.10:g.85981715dup	VUS	1 lab	eb129637a9
11:72070007 CLPB C>T	11	72070007	72070007	C	T	CLPB	c.647G>A	NM_001258394.2	NP_001245323.1:p.(Arg216His)	NC_000011.9:g.72070007C>T	VUS	1 lab	eb137e4202
X:18582646 CDKL5 GAT>G	X	18582646	18582670	GAT	G	CDKL5	c.145+27_145+28del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18582669_18582670del	(Likely) benign	1 lab	eb13e5fcef
6:1612092 FOXC1 C>G	6	1612092	1612092	C	G	FOXC1	c.1412C>G	NM_001453.3	NP_001444.2:p.(Thr471Ser)	NC_000006.11:g.1612092C>G	(Likely) benign	1 lab	eb149b28a0
17:35767584 TADA2A G>A	17	35767584	35767584	G	A	TADA2A	c.-98+1G>A	NM_001488.4	NP_001479.4:p.?	NC_000017.10:g.35767584G>A	(Likely) benign	1 lab	eb15b059bd
2:179427440 TTN C>G	2	179427440	179427440	C	G	TTN	c.83419G>C	NM_001267550.1	NP_001254479.1:p.(Glu27807Gln)	NC_000002.11:g.179427440C>G	VUS	1 lab	eb19c87560
12:40707778 LRRK2 G>A	12	40707778	40707778	G	A	LRRK2	c.4541G>A	NM_198578.3	NP_940980.3:p.(Arg1514Gln)	NC_000012.11:g.40707778G>A	(Likely) benign	1 lab	eb1a3da563
13:43462637 EPSTI1 C>A	13	43462637	43462637	C	A	EPSTI1	c.982G>T	NM_001002264.3	NP_001002264.1:p.(Val328Leu)	NC_000013.10:g.43462637C>A	(Likely) benign	1 lab	eb1bc0080a
21:34100338 SYNJ1 C>T	21	34100338	34100338	C	T	SYNJ1	c.14G>A	NM_203446.2	NP_982271.2:p.(Trp5Ter)	NC_000021.8:g.34100338C>T	(Likely) pathogenic	1 lab	eb1c7b8802
12:7046398 ATN1 A>C	12	7046398	7046398	A	C	ATN1	c.1968A>C	NM_001940.4	NP_001931.2:p.(Gly656=)	NC_000012.11:g.7046398A>C	(Likely) benign	1 lab	eb1cafd7ff
5:37158374 CPLANE1 C>T	5	37158374	37158374	C	T	CPLANE1	c.7764G>A	NM_023073.3	NP_075561.3:p.(Met2588Ile)	NC_000005.9:g.37158374C>T	(Likely) benign	1 lab	eb1cd299cc
X:107976723 IRS4 G>A	X	107976723	107976723	G	A	IRS4	c.2852C>T	NM_003604.2	NP_003595.1:p.(Pro951Leu)	NC_000023.10:g.107976723G>A	(Likely) benign	1 lab	eb1d38a41b
11:78523232 TENM4 T>C	11	78523232	78523232	T	C	TENM4	c.1913A>G	NM_001098816.2	NP_001092286.2:p.(His638Arg)	NC_000011.9:g.78523232T>C	VUS	1 lab	eb1db31a86
2:170042008 LRP2 C>T	2	170042008	170042008	C	T	LRP2	c.9845+5G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170042008C>T	(Likely) benign	1 lab	eb1ea1dc9b
7:117144368 CFTR C>T	7	117144368	117144368	C	T	CFTR	c.115C>T	NM_000492.3	NP_000483.3:p.(Gln39Ter)	NC_000007.13:g.117144368C>T	(Likely) pathogenic	1 lab	eb1ea7284f
9:377067 DOCK8 G>A	9	377067	377067	G	A	DOCK8	c.2296G>A	NM_203447.3	NP_982272.2:p.(Glu766Lys)	NC_000009.11:g.377067G>A	VUS	1 lab	eb1f56c6d1
10:73498276 CDH23 G>A	10	73498276	73498276	G	A	CDH23	c.4231G>A	NM_022124.5	NP_071407.4:p.(Glu1411Lys)	NC_000010.10:g.73498276G>A	VUS	1 lab	eb215274b4
21:46914492 COL18A1 C>T	21	46914492	46914492	C	T	COL18A1	c.2919+7C>T	NM_030582.4	NP_085059.2:p.?	NC_000021.8:g.46914492C>T	(Likely) benign	1 lab	eb226410e9
11:47305795 MADD T>G	11	47305795	47305795	T	G	MADD	c.1929T>G	NM_003682.3	NP_003673.3:p.(Ser643Arg)	NC_000011.9:g.47305795T>G	VUS	1 lab	eb23d73f5f
3:38889033 SCN11A T>G	3	38889033	38889033	T	G	SCN11A	c.4528A>C	NM_014139.2	NP_054858.2:p.(Ile1510Leu)	NC_000003.11:g.38889033T>G	VUS	1 lab	eb24df7038
17:27849514 MISSING C>T	17	27849514	27849514	C	T	MISSING				NC_000017.10:g.27849514C>T	(Likely) pathogenic	1 lab	5fb18654f5
16:2129049 TSC2 C>A	16	2129049	2129049	C	A	TSC2	c.2983C>A	NM_000548.3	NP_000539.2:p.(Leu995Ile)	NC_000016.9:g.2129049C>A	(Likely) benign	1 lab	eb24fc701d
19:13322970 CACNA1A T>C	19	13322970	13322970	T	C	CACNA1A	c.6268A>G	NM_023035.2	NP_075461.2:p.(Met2090Val)	NC_000019.9:g.13322970T>C	(Likely) benign	1 lab	eb255f3962
1:160000640 PIGM G>A	1	160000640	160000640	G	A	PIGM	c.890C>T	NM_145167.2	NP_660150.1:p.(Pro297Leu)	NC_000001.10:g.160000640G>A	VUS	1 lab	eb2614897f
10:73567715 CDH23 C>T	10	73567715	73567715	C	T	CDH23	c.8673C>T	NM_022124.5	NP_071407.4:p.(Phe2891=)	NC_000010.10:g.73567715C>T	(Likely) benign	1 lab	eb26410bce
6:35027934 ANKS1A G>A	6	35027934	35027934	G	A	ANKS1A	c.2088G>A	NM_015245.3	NP_056060.2:p.(Thr696=)	NC_000006.11:g.35027934G>A	(Likely) benign	1 lab	eb26f75ce4
1:5923998 NPHP4 C>T	1	5923998	5923998	C	T	NPHP4	c.4092G>A	NM_015102.4	NP_055917.1:p.(Leu1364=)	NC_000001.10:g.5923998C>T	(Likely) benign	1 lab	eb27f0e509
2:61711202 XPO1 GAA>G	2	61711202	61711207	GAA	G	XPO1	c.2545_2546del	NM_003400.4	NP_003391.1:p.(Phe849LeufsTer23)	NC_000002.11:g.61711206_61711207del	VUS	1 lab	eb28942c5f
X:14038353 GEMIN8 T>C	X	14038353	14038353	T	C	GEMIN8	c.316A>G	NM_017856.2	NP_060326.1:p.(Ile106Val)	NC_000023.10:g.14038353T>C	(Likely) benign	1 lab	eb2c496023
X:147010320 FMR1 G>A	X	147010320	147010320	G	A	FMR1	c.414G>A	NM_002024.5	NP_002015.1:p.(Arg138=)	NC_000023.10:g.147010320G>A	(Likely) benign	1 lab	eb2dccbb31
X:6995477 PUDP G>T	X	6995477	6995477	G	T	PUDP	c.363C>A	NM_001135565.1	NP_001129037.1:p.(Leu121=)	NC_000023.10:g.6995477G>T	(Likely) benign	1 lab	eb2ffd402f
9:71867729 TJP2 A>C	9	71867729	71867729	A	C	TJP2	c.3322-2A>C	NM_004817.4	NP_004808.2:p.?	NC_000009.11:g.71867729A>C	(Likely) pathogenic	1 lab	eb30c8e626
7:2977624 CARD11 G>A	7	2977624	2977624	G	A	CARD11	c.1060C>T	NM_001324281.1	NP_001311210.1:p.(Leu354=)	NC_000007.13:g.2977624G>A	(Likely) benign	1 lab	eb322de2a5
4:25125792 SEPSECS T>C	4	25125792	25125792	T	C	SEPSECS	c.1267A>G	NM_016955.3	NP_058651.3:p.(Met423Val)	NC_000004.11:g.25125792T>C	VUS	1 lab	eb332c698c
X:41045779 USP9X G>A	X	41045779	41045779	G	A	USP9X	c.3568G>A	NM_001039591.3	NP_001034680.2:p.(Val1190Ile)	NC_000023.10:g.41045779G>A	VUS	1 lab	eb34a37740
16:75513311 CHST6 G>A	16	75513311	75513311	G	A	CHST6	c.416C>T	NM_021615.5	NP_067628.1:p.(Pro139Leu)	NC_000016.9:g.75513311G>A	VUS	1 lab	eb34e4ae69
2:3660935 COLEC11 C>T	2	3660935	3660935	C	T	COLEC11	c.77C>T	NM_199235.2	NP_954705.1:p.(Pro26Leu)	NC_000002.11:g.3660935C>T	(Likely) benign	1 lab	eb35874553
2:71190762 ATP6V1B1 A>G	2	71190762	71190762	A	G	ATP6V1B1	c.1121A>G	NM_001692.4	NP_001683.2:p.(Asp374Gly)	NC_000002.11:g.71190762A>G	VUS	1 lab	eb36814b79
11:3877591 STIM1 G>C	11	3877591	3877591	G	C	STIM1	c.91G>C	NM_001277961.1	NP_001264890.1:p.(Ala31Pro)	NC_000011.9:g.3877591G>C	(Likely) benign	1 lab	eb36c87128
1:120285558 PHGDH G>C	1	120285558	120285558	G	C	PHGDH	c.1338G>C	NM_006623.3	NP_006614.2:p.(Gln446His)	NC_000001.10:g.120285558G>C	(Likely) benign	1 lab	eb37c6a4f0
1:216251672 USH2A C>G	1	216251672	216251672	C	G	USH2A	c.5331G>C	NM_206933.2	NP_996816.2:p.(Arg1777=)	NC_000001.10:g.216251672C>G	(Likely) benign	1 lab	eb390ab48f
1:155450111 ASH1L A>C	1	155450111	155450111	A	C	ASH1L	c.2550T>G	NM_018489.3	NP_060959.2:p.(Pro850=)	NC_000001.10:g.155450111A>C	(Likely) benign	1 lab	eb39482527
12:124239020 ATP6V0A2 T>C	12	124239020	124239020	T	C	ATP6V0A2	c.2229T>C	NM_012463.3	NP_036595.2:p.(Cys743=)	NC_000012.11:g.124239020T>C	(Likely) benign	1 lab	eb3b7d8b73
17:29654974 NF1 G>A	17	29654974	29654974	G	A	NF1	c.5546+117G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654974G>A	(Likely) benign	1 lab	eb3dd2c8f1
X:38664350 MID1IP1 G>C	X	38664350	38664350	G	C	MID1IP1	c.151G>C	NM_021242.5	NP_067065.1:p.(Asp51His)	NC_000023.10:g.38664350G>C	VUS	1 lab	eb3e361695
16:72993847 ZFHX3 C>T	16	72993847	72993847	C	T	ZFHX3	c.198G>A	NM_006885.3	NP_008816.3:p.(Ala66=)	NC_000016.9:g.72993847C>T	(Likely) benign	1 lab	eb3fb89bf4
4:121631559 PRDM5 A>G	4	121631559	121631559	A	G	PRDM5	c.1633T>C	NM_018699.3	NP_061169.2:p.(Tyr545His)	NC_000004.11:g.121631559A>G	VUS	1 lab	eb40326fb4
17:29550511 NF1 CT>C	17	29550511	29550513	CT	C	NF1	c.1773del	NM_001042492.3	NP_001035957.1:p.(Ser592ValfsTer13)	NC_000017.10:g.29550513del	(Likely) pathogenic	1 lab	eb42ff54e0
15:43170793 TTBK2 A>G	15	43170793	43170793	A	G	TTBK2	c.23T>C	NM_173500.3	NP_775771.3:p.(Leu8Pro)	NC_000015.9:g.43170793A>G	(Likely) benign	1 lab	eb44ba01ee
8:10468390 RP1L1 C>T	8	10468390	10468390	C	T	RP1L1	c.3218G>A	NM_178857.5	NP_849188.4:p.(Arg1073Gln)	NC_000008.10:g.10468390C>T	(Likely) benign	1 lab	eb45173680
14:105421844 AHNAK2 C>T	14	105421844	105421844	C	T	AHNAK2	c.442G>A	NM_138420.3	NP_612429.2:p.(Ala148Thr)	NC_000014.8:g.105421844C>T	(Likely) benign	1 lab	eb45fa6455
15:62269312 VPS13C C>T	15	62269312	62269312	C	T	VPS13C	c.2377G>A	NM_001018088.2	NP_001018098.1:p.(Ala793Thr)	NC_000015.9:g.62269312C>T	VUS	1 lab	eb491c594c
9:35748379 GBA2 A>G	9	35748379	35748379	A	G	GBA2	c.323T>C	NM_020944.2	NP_065995.1:p.(Leu108Pro)	NC_000009.11:g.35748379A>G	(Likely) benign	1 lab	eb4a09b786
1:181724381 MISSING C>T	1	181724381	181724381	C	T	MISSING				NC_000001.10:g.181724381C>T	(Likely) benign	1 lab	eb4adf99de
16:2125859 TSC2 T>TTCGCCA	16	2125859	2125867	T	TTCGCCA	TSC2	c.2608_2613dup	NM_000548.3	NP_000539.2:p.(Ala870_Ile871dup)	NC_000016.9:g.2125862_2125867dup	(Likely) pathogenic	1 lab	eb4b8e4ff0
17:29560185 NF1 T>G	17	29560185	29560185	T	G	NF1	c.3662T>G	NM_000267.3	NP_000258.1:p.(Leu1221Arg)	NC_000017.10:g.29560185T>G	VUS	1 lab	eb4f483a07
1:158655041 SPTA1 G>T	1	158655041	158655041	G	T	SPTA1	c.121C>A	NM_003126.3	NP_003117.2:p.(Arg41=)	NC_000001.10:g.158655041G>T	(Likely) benign	1 lab	eb4fade5c7
11:117054495 SIDT2 C>T	11	117054495	117054495	C	T	SIDT2	c.703C>T	NM_001040455.1	NP_001035545.1:p.(Arg235Cys)	NC_000011.9:g.117054495C>T	VUS	1 lab	eb53703b4b
6:143094536 HIVEP2 C>T	6	143094536	143094536	C	T	HIVEP2	c.1340G>A	NM_006734.3	NP_006725.3:p.(Arg447His)	NC_000006.11:g.143094536C>T	(Likely) benign	1 lab	eb54351947
11:74717231 NEU3 A>G	11	74717231	74717231	A	G	NEU3	c.1080A>G	NM_006656.6	NP_006647.3:p.(Ser360=)	NC_000011.9:g.74717231A>G	(Likely) benign	1 lab	eb56399bf8
16:70287211 AARS1 T>C	16	70287211	70287211	T	C	AARS1	c.2681A>G	NM_001605.2	NP_001596.2:p.(Asn894Ser)	NC_000016.9:g.70287211T>C	(Likely) benign	1 lab	eb575cc942
3:155547525 SLC33A1 C>T	3	155547525	155547525	C	T	SLC33A1	c.1434G>A	NM_004733.3	NP_004724.1:p.(Glu478=)	NC_000003.11:g.155547525C>T	(Likely) benign	1 lab	eb57f0ab7e
16:70305755 AARS1 G>A	16	70305755	70305755	G	A	AARS1	c.600C>T	NM_001605.2	NP_001596.2:p.(Ala200=)	NC_000016.9:g.70305755G>A	(Likely) benign	1 lab	eb57f6179e
1:245530226 KIF26B A>G	1	245530226	245530226	A	G	KIF26B	c.556A>G	NM_018012.4	NP_060482.2:p.(Ile186Val)	NC_000001.10:g.245530226A>G	(Likely) benign	1 lab	eb58294485
8:101206357 SPAG1 T>A	8	101206357	101206357	T	A	SPAG1	c.957T>A	NM_003114.4	NP_003105.2:p.(Val319=)	NC_000008.10:g.101206357T>A	(Likely) benign	1 lab	eb584b07d1
1:197071307 ASPM T>C	1	197071307	197071307	T	C	ASPM	c.7074A>G	NM_018136.4	NP_060606.3:p.(Lys2358=)	NC_000001.10:g.197071307T>C	(Likely) benign	1 lab	eb5a798941
5:89953806 ADGRV1 G>A	5	89953806	89953806	G	A	ADGRV1	c.4463G>A	NM_032119.4	NP_115495.3:p.(Arg1488Gln)	NC_000005.9:g.89953806G>A	(Likely) benign	1 lab	eb5b0bdfbc
6:16328080 ATXN1 G>A	6	16328080	16328080	G	A	ATXN1	c.462C>T	NM_000332.3	NP_000323.2:p.(Pro154=)	NC_000006.11:g.16328080G>A	(Likely) benign	1 lab	eb5bbbf691
8:61761696 CHD7 T>C	8	61761696	61761696	T	C	CHD7				NC_000008.10:g.61761696T>C	VUS	1 lab	eb5ca2b6dc
11:726389 EPS8L2 C>T	11	726389	726389	C	T	EPS8L2	c.1839C>T	NM_022772.3	NP_073609.2:p.(Arg613=)	NC_000011.9:g.726389C>T	(Likely) benign	1 lab	eb5ccd60ca
15:34544437 SLC12A6 A>G	15	34544437	34544437	A	G	SLC12A6	c.1240T>C	NM_001042496.1	NP_001035961.1:p.(Tyr414His)	NC_000015.9:g.34544437A>G	VUS	1 lab	eb5e8c8744
10:89473089 PAPSS2 A>AAAG	10	89473089	89473092	A	AAAG	PAPSS2	c.381+23_381+25dup	NM_001015880.1	NP_001015880.1:p.?	NC_000010.10:g.89473090_89473092dup	(Likely) benign	1 lab	eb618df843
5:158596776 RNF145 C>T	5	158596776	158596776	C	T	RNF145	c.849G>A	NM_001199383.1	NP_001186312.1:p.(Thr283=)	NC_000005.9:g.158596776C>T	(Likely) benign	1 lab	eb61bda339
12:57135256 PRIM1 ATGAT>A	12	57135256	57135265	ATGAT	A	PRIM1	c.941_944del	NM_000946.3	NP_000937.1:p.(Asn314IlefsTer3)	NC_000012.11:g.57135262_57135265del	VUS	1 lab	eb61c4d207
11:86663069 FZD4 G>A	11	86663069	86663069	G	A	FZD4	c.729C>T	NM_012193.3	NP_036325.2:p.(Ile243=)	NC_000011.9:g.86663069G>A	(Likely) benign	1 lab	eb636d028e
X:153641619 TAFAZZIN C>T	X	153641619	153641619	C	T	TAFAZZIN	c.284+30C>T	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153641619C>T	(Likely) benign	1 lab	eb647de13d
20:34095911 CEP250 G>A	20	34095911	34095911	G	A	CEP250	c.6798G>A	NM_007186.5	NP_009117.2:p.(Gln2266=)	NC_000020.10:g.34095911G>A	(Likely) benign	1 lab	eb67cedda7
4:996508 IDUA C>CA	4	996508	996509	C	CA	IDUA	c.1190-12_1190-11insA	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996508_996509insA	(Likely) benign	1 lab	eb683a755f
5:77477451 AP3B1 G>A	5	77477451	77477451	G	A	AP3B1	c.675C>T	NM_001271769.1	NP_001258698.1:p.(Tyr225=)	NC_000005.9:g.77477451G>A	(Likely) benign	1 lab	eb686121b0
2:1670156 PXDN G>A	2	1670156	1670156	G	A	PXDN	c.1121C>T	NM_012293.2	NP_036425.1:p.(Ser374Phe)	NC_000002.11:g.1670156G>A	(Likely) benign	1 lab	eb68696ef2
8:144942124 EPPK1 G>A	8	144942124	144942124	G	A	EPPK1				NC_000008.10:g.144942124G>A	(Likely) benign	1 lab	eb68e89af7
6:13306643 TBC1D7 TTTG>T	6	13306643	13306648	TTTG	T	TBC1D7	c.779_781del	NM_016495.6	NP_057579.1:p.(Thr260del)	NC_000006.11:g.13306646_13306648del	VUS	1 lab	eb6a92ffdb
1:218607783 TGFB2 A>G	1	218607783	218607783	A	G	TGFB2	c.831A>G	NM_001135599.3	NP_001129071.1:p.(Arg277=)	NC_000001.10:g.218607783A>G	(Likely) benign	1 lab	eb6b98be3e
7:83032048 SEMA3E C>T	7	83032048	83032048	C	T	SEMA3E	c.1043G>A	NM_012431.3	NP_036563.1:p.(Ser348Asn)	NC_000007.13:g.83032048C>T	(Likely) benign	1 lab	eb6bf98d27
15:43067894 TTBK2 A>T	15	43067894	43067894	A	T	TTBK2	c.1437T>A	NM_173500.3	NP_775771.3:p.(Ser479Arg)	NC_000015.9:g.43067894A>T	(Likely) benign	1 lab	eb6c89a927
20:49510833 ADNP GGCT>G	20	49510833	49510839	GGCT	G	ADNP	c.415_417del	NM_001282531.3	NP_001269460.1:p.(Ser139del)	NC_000020.10:g.49510837_49510839del	VUS	1 lab	eb6cd34094
8:12286230 FAM86B2 GCTGT>G	8	12286230	12286236	GCTGT	G	FAM86B2	c.650_653del	NM_001137610.3	NP_001131082.1:p.(Asp217AlafsTer4)	NC_000008.10:g.12286233_12286236del	VUS	1 lab	eb6deb2e31
2:136562636 LCT G>A	2	136562636	136562636	G	A	LCT	c.4174-9C>T	NM_002299.2	NP_002290.2:p.?	NC_000002.11:g.136562636G>A	(Likely) benign	1 lab	eb6e8cc968
X:6451932 VCX3A C>G	X	6451932	6451932	C	G	VCX3A	c.415G>C	NM_016379.3	NP_057463.2:p.(Glu139Gln)	NC_000023.10:g.6451932C>G	(Likely) benign	1 lab	eb6f6e9c48
16:2367756 ABCA3 G>A	16	2367756	2367756	G	A	ABCA3	c.883C>T	NM_001089.2	NP_001080.2:p.(Arg295Cys)	NC_000016.9:g.2367756G>A	(Likely) pathogenic	1 lab	eb71c5e07d
1:196711157 CFH T>A	1	196711157	196711157	T	A	CFH	c.3109T>A	NM_000186.3	NP_000177.2:p.(Trp1037Arg)	NC_000001.10:g.196711157T>A	VUS	1 lab	eb725293a2
X:49072013 CACNA1F C>T	X	49072013	49072013	C	T	CACNA1F	c.3270-10G>A	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49072013C>T	(Likely) benign	1 lab	eb73680cbe
2:170058379 LRP2 T>C	2	170058379	170058379	T	C	LRP2	c.8211A>G	NM_004525.3	NP_004516.2:p.(Ala2737=)	NC_000002.11:g.170058379T>C	(Likely) benign	1 lab	eb75134dea
X:50054062 CCNB3 A>G	X	50054062	50054062	A	G	CCNB3	c.2893A>G	NM_033031.2	NP_149020.2:p.(Thr965Ala)	NC_000023.10:g.50054062A>G	(Likely) benign	1 lab	eb7a726e6b
6:116950876 RSPH4A G>A	6	116950876	116950876	G	A	RSPH4A	c.1798+11G>A	NM_001010892.2	NP_001010892.1:p.?	NC_000006.11:g.116950876G>A	(Likely) benign	1 lab	eb7b728d02
16:686151 METTL26 C>G	16	686151	686151	C	G	METTL26	c.140G>C	NM_001288710.1	NP_001275639.1:p.(Arg47Pro)	NC_000016.9:g.686151C>G	VUS	1 lab	eb7c5db9d5
20:57769156 ZNF831 G>T	20	57769156	57769156	G	T	ZNF831	c.3082G>T	NM_178457.2	NP_848552.1:p.(Asp1028Tyr)	NC_000020.10:g.57769156G>T	VUS	1 lab	eb7edc1089
15:41275242 INO80 C>G	15	41275242	41275242	C	G	INO80	c.4271G>C	NM_017553.3	NP_060023.1:p.(Arg1424Pro)	NC_000015.9:g.41275242C>G	VUS	1 lab	eb8357802f
12:54110127 CALCOCO1 C>G	12	54110127	54110127	C	G	CALCOCO1	c.922G>C	NM_020898.3	NP_065949.1:p.(Glu308Gln)	NC_000012.11:g.54110127C>G	(Likely) benign	1 lab	eb85e49510
X:74670557 ZDHHC15 C>A	X	74670557	74670557	C	A	ZDHHC15	c.379+80G>T	NM_144969.2	NP_659406.1:p.?	NC_000023.10:g.74670557C>A	(Likely) benign	1 lab	eb85f0b90c
2:189849529 COL3A1 T>C	2	189849529	189849529	T	C	COL3A1	c.123T>C	NM_000090.3	NP_000081.1:p.(Asp41=)	NC_000002.11:g.189849529T>C	(Likely) benign	1 lab	eb87586f53
16:82033277 SDR42E1 AC>A	16	82033277	82033280	AC	A	SDR42E1	c.620del	NM_145168.3	NP_660151.2:p.(Gly207ValfsTer33)	NC_000016.9:g.82033280del	VUS	1 lab	eb88230899
6:152510520 SYNE1 C>T	6	152510520	152510520	C	T	SYNE1	c.23168G>A	NM_182961.3	NP_892006.3:p.(Ser7723Asn)	NC_000006.11:g.152510520C>T	(Likely) benign	1 lab	eb88c1ca29
12:56396504 SUOX G>T	12	56396504	56396504	G	T	SUOX	c.228G>T	NM_000456.2	NP_000447.2:p.(Arg76Ser)	NC_000012.11:g.56396504G>T	VUS	1 lab	eb8adfea37
16:50784122 CYLD G>T	16	50784122	50784122	G	T	CYLD	c.504+9G>T	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50784122G>T	(Likely) benign	1 lab	eb8aea23e7
11:66637796 PC C>T	11	66637796	66637796	C	T	PC	c.880G>A	NM_001040716.1	NP_001035806.1:p.(Asp294Asn)	NC_000011.9:g.66637796C>T	VUS	1 lab	eb8c42582e
16:2136746 TSC2 C>T	16	2136746	2136746	C	T	TSC2	c.4794C>T	NM_001114382.2	NP_001107854.1:p.(Ile1598=)	NC_000016.9:g.2136746C>T	(Likely) benign	1 lab	eb8c9e3650
8:61754555 CHD7 A>G	8	61754555	61754555	A	G	CHD7				NC_000008.10:g.61754555A>G	(Likely) benign	1 lab	eb8ce1340d
X:150154172 HMGB3 G>C	X	150154172	150154172	G	C	HMGB3	c.100G>C	NM_001301228.1	NP_001288157.1:p.(Val34Leu)	NC_000023.10:g.150154172G>C	(Likely) benign	1 lab	eb8d25f8a8
X:108708473 GUCY2F T>C	X	108708473	108708473	T	C	GUCY2F	c.930A>G	NM_001522.2	NP_001513.2:p.(Ala310=)	NC_000023.10:g.108708473T>C	(Likely) benign	1 lab	eb8dae319b
6:152652719 SYNE1 G>A	6	152652719	152652719	G	A	SYNE1	c.13101C>T	NM_182961.3	NP_892006.3:p.(Ile4367=)	NC_000006.11:g.152652719G>A	(Likely) benign	1 lab	eb8e2f47d8
20:60905836 LAMA5 T>C	20	60905836	60905836	T	C	LAMA5	c.3815A>G	NM_005560.4	NP_005551.3:p.(Asp1272Gly)	NC_000020.10:g.60905836T>C	VUS	1 lab	eb8ec07556
14:105416238 AHNAK2 C>T	14	105416238	105416238	C	T	AHNAK2	c.5550G>A	NM_138420.3	NP_612429.2:p.(Ala1850=)	NC_000014.8:g.105416238C>T	(Likely) benign	1 lab	eb8fa2da6c
10:112581380 RBM20 C>G	10	112581380	112581380	C	G	RBM20	c.3003C>G	NM_001134363.1	NP_001127835.1:p.(Gly1001=)	NC_000010.10:g.112581380C>G	(Likely) benign	1 lab	eb917f07f2
7:117246792 CFTR A>G	7	117246792	117246792	A	G	CFTR	c.2973A>G	NM_000492.3	NP_000483.3:p.(Ile991Met)	NC_000007.13:g.117246792A>G	(Likely) benign	1 lab	eb92d2e2ed
20:32379010 ZNF341 C>T	20	32379010	32379010	C	T	ZNF341	c.2252C>T	NM_001282933.1	NP_001269862.1:p.(Ala751Val)	NC_000020.10:g.32379010C>T	(Likely) benign	1 lab	eb93a94b27
X:135572635 BRS3 C>T	X	135572635	135572635	C	T	BRS3	c.778C>T	NM_001727.2	NP_001718.1:p.(Arg260Cys)	NC_000023.10:g.135572635C>T	VUS	1 lab	eb93de8282
19:36217260 KMT2B G>T	19	36217260	36217260	G	T	KMT2B	c.4003+6G>T	NM_014727.2	NP_055542.1:p.?	NC_000019.9:g.36217260G>T	(Likely) benign	1 lab	eb94fac9f3
15:40703562 IVD C>T	15	40703562	40703562	C	T	IVD	c.502+10C>T	NM_001354597.2	NP_001341526.1:p.?	NC_000015.9:g.40703562C>T	(Likely) benign	1 lab	eb96543f99
17:48270155 COL1A1 C>A	17	48270155	48270155	C	A	COL1A1	c.1875+3G>T	NM_000088.3	NP_000079.2:p.?	NC_000017.10:g.48270155C>A	VUS	1 lab	eb97405ec2
15:72663038 HEXA T>TAAAAAAAAAAAAG	15	72663038	72663050	T	TAAAAAAAAAAAAG	HEXA	c.253+5022_253+5023insCTTTTTTTTTTTT	NM_001318825.1	NP_001305754.1:p.?	NC_000015.9:g.72663049_72663050insAGAAAAAAAAAAA	(Likely) benign	1 lab	eb9817585f
X:129155073 BCORL1 G>A	X	129155073	129155073	G	A	BCORL1	c.3555G>A	NM_001184772.2	NP_001171701.1:p.(Pro1185=)	NC_000023.10:g.129155073G>A	(Likely) benign	1 lab	eb988a2375
X:70444061 GJB1 C>T	X	70444061	70444061	C	T	GJB1	c.504C>T	NM_000166.5	NP_000157.1:p.(Cys168=)	NC_000023.10:g.70444061C>T	(Likely) benign	1 lab	eb9a373aad
3:37042543 MLH1 A>C	3	37042543	37042543	A	C	MLH1	c.305A>C	NM_000249.3	NP_000240.1:p.(Glu102Ala)	NC_000003.11:g.37042543A>C	(Likely) pathogenic	1 lab	eb9bb800ee
2:242179307 HDLBP G>A	2	242179307	242179307	G	A	HDLBP	c.2391+9C>T	NM_005336.5	NP_005327.1:p.?	NC_000002.11:g.242179307G>A	(Likely) benign	1 lab	eb9d3bac67
1:186147652 HMCN1 G>A	1	186147652	186147652	G	A	HMCN1	c.16048G>A	NM_031935.2	NP_114141.2:p.(Asp5350Asn)	NC_000001.10:g.186147652G>A	VUS	1 lab	eb9f2c9bf9
14:91739129 CCDC88C C>G	14	91739129	91739129	C	G	CCDC88C	c.5927G>C	NM_001080414.3	NP_001073883.2:p.(Gly1976Ala)	NC_000014.8:g.91739129C>G	(Likely) benign	1 lab	eb9f586157
6:41875031 MED20 A>C	6	41875031	41875031	A	C	MED20	c.238-6T>G	NM_001305456.1	NP_001292385.1:p.?	NC_000006.11:g.41875031A>C	VUS	1 lab	eb9fe1a7f8
X:149639136 MAMLD1 C>T	X	149639136	149639136	C	T	MAMLD1	c.1291C>T	NM_005491.4	NP_005482.2:p.(Leu431Phe)	NC_000023.10:g.149639136C>T	(Likely) benign	1 lab	eba4d897cf
4:9783877 DRD5 T>C	4	9783877	9783877	T	C	DRD5	c.224T>C	NM_000798.4	NP_000789.1:p.(Met75Thr)	NC_000004.11:g.9783877T>C	VUS	1 lab	eba4ee5d52
2:71838641 DYSF A>G	2	71838641	71838641	A	G	DYSF	c.4103A>G	NM_001130981.1	NP_001124453.1:p.(Asn1368Ser)	NC_000002.11:g.71838641A>G	VUS	1 lab	eba58cedff
8:145001746 PLEC G>A	8	145001746	145001746	G	A	PLEC	c.3999C>T	NM_201380.3	NP_958782.1:p.(Asp1333=)	NC_000008.10:g.145001746G>A	(Likely) benign	1 lab	eba81c66e3
7:5427558 TNRC18 C>A	7	5427558	5427558	C	A	TNRC18	c.1897G>T	NM_001080495.2	NP_001073964.2:p.(Ala633Ser)	NC_000007.13:g.5427558C>A	(Likely) benign	1 lab	eba830e26a
8:145738435 RECQL4 G>T	8	145738435	145738435	G	T	RECQL4	c.2550C>A	NM_004260.3	NP_004251.3:p.(Phe850Leu)	NC_000008.10:g.145738435G>T	VUS	1 lab	eba8d8e638
14:68229462 ZFYVE26 A>G	14	68229462	68229462	A	G	ZFYVE26	c.6086T>C	NM_015346.3	NP_056161.2:p.(Ile2029Thr)	NC_000014.8:g.68229462A>G	(Likely) benign	1 lab	ebaa542305
11:57373565 SERPING1 C>T	11	57373565	57373565	C	T	SERPING1	c.768C>T	NM_000062.2	NP_000053.2:p.(Asp256=)	NC_000011.9:g.57373565C>T	(Likely) benign	1 lab	ebad369acf
X:77244902 ATP7A T>A	X	77244902	77244902	T	A	ATP7A	c.784T>A	NM_000052.6	NP_000043.4:p.(Ser262Thr)	NC_000023.10:g.77244902T>A	(Likely) benign	1 lab	ebae640a10
3:45557681 LARS2 G>C	3	45557681	45557681	G	C	LARS2	c.1957G>C	NM_015340.4	NP_056155.1:p.(Val653Leu)	NC_000003.11:g.45557681G>C	(Likely) benign	1 lab	ebae8c71ee
1:201175247 IGFN1 A>G	1	201175247	201175247	A	G	IGFN1	c.1226A>G	NM_001164586.1	NP_001158058.1:p.(Asp409Gly)	NC_000001.10:g.201175247A>G	VUS	1 lab	ebaf4b4c9d
12:57492821 STAT6 A>G	12	57492821	57492821	A	G	STAT6	c.1932T>C	NM_001178078.1	NP_001171549.1:p.(Ala644=)	NC_000012.11:g.57492821A>G	(Likely) benign	1 lab	ebafeb8ab2
8:30921934 WRN C>T	8	30921934	30921934	C	T	WRN	c.339C>T	NM_000553.4	NP_000544.2:p.(His113=)	NC_000008.10:g.30921934C>T	(Likely) benign	1 lab	ebb17c241f
13:111080898 COL4A2 C>G	13	111080898	111080898	C	G	COL4A2	c.445C>G	NM_001846.3	NP_001837.2:p.(Pro149Ala)	NC_000013.10:g.111080898C>G	(Likely) benign	1 lab	ebb1c2796f
16:848748 GNG13 C>T	16	848748	848748	C	T	GNG13	c.175G>A	NM_016541.3	NP_057625.1:p.(Val59Met)	NC_000016.9:g.848748C>T	VUS	1 lab	ebb3511503
11:17527416 USH1C G>T	11	17527416	17527416	G	T	USH1C	c.2094C>A	NM_153676.3	NP_710142.1:p.(Pro698=)	NC_000011.9:g.17527416G>T	(Likely) benign	1 lab	ebb43538da
19:2733440 SLC39A3 G>A	19	2733440	2733440	G	A	SLC39A3	c.254C>T	NM_144564.5	NP_653165.2:p.(Pro85Leu)	NC_000019.9:g.2733440G>A	VUS	1 lab	ebb4d4a2bd
17:29557887 NF1 CTGGG>C	17	29557887	29557892	CTGGG	C	NF1	c.3143_3146del	NM_001042492.3	NP_001035957.1:p.(Trp1048LeufsTer13)	NC_000017.10:g.29557889_29557892del	(Likely) pathogenic	1 lab	ebb6d4d224
12:32134702 RESF1 G>A	12	32134702	32134702	G	A	RESF1	c.813G>A	NM_018169.4	NP_060639.4:p.(Thr271=)	NC_000012.11:g.32134702G>A	(Likely) benign	1 lab	ebb775a9bd
12:32974355 PKP2 C>T	12	32974355	32974355	C	T	PKP2	c.2080G>A	NM_004572.3	NP_004563.2:p.(Val694Ile)	NC_000012.11:g.32974355C>T	(Likely) benign	1 lab	ebb90570c8
11:64067093 KCNK4 C>T	11	64067093	64067093	C	T	KCNK4	c.1077C>T	NM_033310.3	NP_201567.1:p.(Cys359=)	NC_000011.9:g.64067093C>T	(Likely) benign	1 lab	ebb91b6438
17:34797528 MISSING G>A	17	34797528	34797528	G	A	MISSING				NC_000017.10:g.34797528G>A	(Likely) benign	1 lab	ebbc474873
1:236201522 NID1 C>A	1	236201522	236201522	C	A	NID1	c.1167G>T	NM_002508.2	NP_002499.2:p.(Thr389=)	NC_000001.10:g.236201522C>A	(Likely) benign	1 lab	ebbd4fdf06
5:140953052 DIAPH1 CT>C	5	140953052	140953053	CT	C	DIAPH1	c.2358+6del	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140953053del	(Likely) benign	1 lab	ebbe7a1185
3:184039332 EIF4G1 C>T	3	184039332	184039332	C	T	EIF4G1	c.960C>T	NM_182917.4	NP_886553.3:p.(Leu320=)	NC_000003.11:g.184039332C>T	(Likely) benign	1 lab	ebc18faa78
9:139905167 ABCA2 G>C	9	139905167	139905167	G	C	ABCA2	c.6169C>G	NM_212533.2	NP_997698.1:p.(Pro2057Ala)	NC_000009.11:g.139905167G>C	VUS	1 lab	ebc3dc70c0
2:97427147 CNNM4 G>A	2	97427147	97427147	G	A	CNNM4	c.411G>A	NM_020184.3	NP_064569.3:p.(Lys137=)	NC_000002.11:g.97427147G>A	(Likely) benign	1 lab	ebc6e99e86
4:1808834 FGFR3 C>T	4	1808834	1808834	C	T	FGFR3	c.2275-9C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1808834C>T	(Likely) benign	1 lab	ebca2eff42
4:110789102 LRIT3 G>C	4	110789102	110789102	G	C	LRIT3	c.895G>C	NM_198506.4	NP_940908.3:p.(Val299Leu)	NC_000004.11:g.110789102G>C	VUS	1 lab	ebcb65748b
11:66481633 SPTBN2 G>A	11	66481633	66481633	G	A	SPTBN2	c.585C>T	NM_006946.3	NP_008877.1:p.(Asn195=)	NC_000011.9:g.66481633G>A	(Likely) benign	1 lab	ebccd751b6
17:17700893 RAI1 G>A	17	17700893	17700893	G	A	RAI1	c.4631G>A	NM_030665.3	NP_109590.3:p.(Arg1544Gln)	NC_000017.10:g.17700893G>A	(Likely) benign	1 lab	ebcd9c5356
19:46269035 SIX5 C>T	19	46269035	46269035	C	T	SIX5	c.1944G>A	NM_175875.4	NP_787071.2:p.(Pro648=)	NC_000019.9:g.46269035C>T	(Likely) benign	1 lab	ebcf2aa32c
5:1219663 SLC6A19 G>A	5	1219663	1219663	G	A	SLC6A19	c.1422G>A	NM_001003841.2	NP_001003841.1:p.(Thr474=)	NC_000005.9:g.1219663G>A	(Likely) benign	1 lab	ebd01a2eb9
17:2324082 METTL16 C>T	17	2324082	2324082	C	T	METTL16	c.1005G>A	NM_024086.4	NP_076991.3:p.(Thr335=)	NC_000017.10:g.2324082C>T	(Likely) benign	1 lab	ebd11a46fd
X:49105278 CCDC22 A>C	X	49105278	49105278	A	C	CCDC22	c.1432A>C	NM_014008.4	NP_054727.1:p.(Met478Leu)	NC_000023.10:g.49105278A>C	(Likely) benign	1 lab	ebd1305c53
2:15644286 NBAS G>A	2	15644286	15644286	G	A	NBAS	c.937C>T	NM_015909.3	NP_056993.2:p.(Arg313Cys)	NC_000002.11:g.15644286G>A	VUS	1 lab	ebd165b002
13:28623600 FLT3 T>C	13	28623600	28623600	T	C	FLT3	c.957A>G	NM_004119.2	NP_004110.2:p.(Ser319=)	NC_000013.10:g.28623600T>C	(Likely) benign	1 lab	ebd2704e26
15:34538036 SLC12A6 A>G	15	34538036	34538036	A	G	SLC12A6	c.1655T>C	NM_001042496.1	NP_001035961.1:p.(Val552Ala)	NC_000015.9:g.34538036A>G	VUS	1 lab	ebd37cd56e
17:6367532 PITPNM3 C>A	17	6367532	6367532	C	A	PITPNM3	c.2114G>T	NM_031220.3	NP_112497.2:p.(Arg705Leu)	NC_000017.10:g.6367532C>A	VUS	1 lab	ebd461b634
2:1647289 PXDN G>A	2	1647289	1647289	G	A	PXDN	c.3803C>T	NM_012293.2	NP_036425.1:p.(Thr1268Met)	NC_000002.11:g.1647289G>A	VUS	1 lab	ebd6ea0268
10:17026206 CUBN T>C	10	17026206	17026206	T	C	CUBN	c.4423A>G	NM_001081.3	NP_001072.2:p.(Met1475Val)	NC_000010.10:g.17026206T>C	VUS	1 lab	ebd8cdcbcd
1:214788342 CENPF A>G	1	214788342	214788342	A	G	CENPF	c.330A>G	NM_016343.3	NP_057427.3:p.(Gln110=)	NC_000001.10:g.214788342A>G	(Likely) benign	1 lab	ebdabec3a8
17:11757556 DNAH9 C>T	17	11757556	11757556	C	T	DNAH9	c.9744C>T	NM_001372.3	NP_001363.2:p.(Pro3248=)	NC_000017.10:g.11757556C>T	(Likely) benign	1 lab	ebdd783c7d
12:120156165 CIT G>A	12	120156165	120156165	G	A	CIT	c.4053C>T	NM_001206999.1	NP_001193928.1:p.(Thr1351=)	NC_000012.11:g.120156165G>A	(Likely) benign	1 lab	ebde49ce14
5:11364884 CTNND2 G>A	5	11364884	11364884	G	A	CTNND2	c.1296C>T	NM_001332.3	NP_001323.1:p.(Pro432=)	NC_000005.9:g.11364884G>A	(Likely) benign	1 lab	ebdfe9c5dd
10:75849089 VCL G>C	10	75849089	75849089	G	C	VCL	c.1158G>C	NM_014000.2	NP_054706.1:p.(Lys386Asn)	NC_000010.10:g.75849089G>C	VUS	1 lab	ebe1f1a224
X:114244091 IL13RA2 G>A	X	114244091	114244091	G	A	IL13RA2	c.845C>T	NM_000640.2	NP_000631.1:p.(Thr282Ile)	NC_000023.10:g.114244091G>A	(Likely) benign	1 lab	ebe4984e23
19:50784996 MYH14 G>T	19	50784996	50784996	G	T	MYH14	c.4436G>T	NM_001145809.1	NP_001139281.1:p.(Gly1479Val)	NC_000019.9:g.50784996G>T	VUS	1 lab	ebe4de32ff
17:29528508 NF1 G>A	17	29528508	29528508	G	A	NF1	c.1260+5G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528508G>A	(Likely) pathogenic	1 lab	ebe4f8202b
1:154962819 FLAD1 A>G	1	154962819	154962819	A	G	FLAD1	c.1369A>G	NM_025207.4	NP_079483.3:p.(Asn457Asp)	NC_000001.10:g.154962819A>G	(Likely) benign	1 lab	ebe66ded32
16:28947480 CD19 T>C	16	28947480	28947480	T	C	CD19	c.953T>C	NM_001178098.1	NP_001171569.1:p.(Val318Ala)	NC_000016.9:g.28947480T>C	(Likely) benign	1 lab	ebe768a231
14:102478455 DYNC1H1 G>A	14	102478455	102478455	G	A	DYNC1H1	c.6857+5G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102478455G>A	VUS	1 lab	ebe8d50002
4:122782782 BBS7 C>A	4	122782782	122782782	C	A	BBS7	c.218G>T	NM_176824.2	NP_789794.1:p.(Gly73Val)	NC_000004.11:g.122782782C>A	VUS	1 lab	ebeb1ebd5b
9:137734103 COL5A1 C>T	9	137734103	137734103	C	T	COL5A1	c.5471C>T	NM_000093.4	NP_000084.3:p.(Ser1824Leu)	NC_000009.11:g.137734103C>T	(Likely) benign	1 lab	ebec4397d6
4:57843418 NOA1 G>A	4	57843418	57843418	G	A	NOA1	c.334C>T	NM_032313.4	NP_115689.1:p.(Arg112Trp)	NC_000004.11:g.57843418G>A	VUS	1 lab	ebec813030
6:43623321 RSPH9 G>A	6	43623321	43623321	G	A	RSPH9	c.416G>A	NM_152732.4	NP_689945.2:p.(Arg139His)	NC_000006.11:g.43623321G>A	VUS	1 lab	ebed9adfa1
2:233200512 DIS3L2 G>A	2	233200512	233200512	G	A	DIS3L2	c.2424G>A	NM_152383.4	NP_689596.4:p.(Gln808=)	NC_000002.11:g.233200512G>A	(Likely) benign	1 lab	ebedebd284
X:18643293 CDKL5 A>G	X	18643293	18643293	A	G	CDKL5	c.2422A>G	NM_001323289.1	NP_001310218.1:p.(Ile808Val)	NC_000023.10:g.18643293A>G	(Likely) benign	1 lab	ebee8afc2d
1:57422536 C8B C>T	1	57422536	57422536	C	T	C8B	c.141G>A	NM_001278543.1	NP_001265472.1:p.(Pro47=)	NC_000001.10:g.57422536C>T	(Likely) benign	1 lab	ec0b445308
19:50713790 MYH14 GTGGGT>G	19	50713790	50713795	GTGGGT	G	MYH14	c.169_173del	NM_001145809.2	NP_001139281.1:p.(Trp57AlafsTer132)	NC_000019.9:g.50713791_50713795del	VUS	1 lab	ebefdf8b46
12:57145980 PRIM1 C>A	12	57145980	57145980	C	A	PRIM1	c.103G>T	NM_000946.3	NP_000937.1:p.(Val35Leu)	NC_000012.11:g.57145980C>A	VUS	1 lab	ebeff6269e
X:69255378 EDA G>A	X	69255378	69255378	G	A	EDA	c.1095G>A	NM_001399.4	NP_001390.1:p.(Val365=)	NC_000023.10:g.69255378G>A	(Likely) benign	1 lab	ebefff94f7
16:1392724 BAIAP3 A>G	16	1392724	1392724	A	G	BAIAP3	c.1175A>G	NM_003933.4	NP_003924.2:p.(Asp392Gly)	NC_000016.9:g.1392724A>G	VUS	1 lab	ebf17c6f26
2:149240700 MBD5 C>A	2	149240700	149240700	C	A	MBD5	c.2540C>A	NM_018328.4	NP_060798.2:p.(Ser847Tyr)	NC_000002.11:g.149240700C>A	VUS	1 lab	ebf71966c6
1:9780184 PIK3CD C>T	1	9780184	9780184	C	T	PIK3CD	c.1354C>T	NM_005026.3	NP_005017.3:p.(Leu452=)	NC_000001.10:g.9780184C>T	(Likely) benign	1 lab	ebf760d049
16:15829377 MYH11 C>A	16	15829377	15829377	C	A	MYH11	c.3373G>T	NM_001040113.1	NP_001035202.1:p.(Gly1125Cys)	NC_000016.9:g.15829377C>A	VUS	1 lab	ebfa4ffdd0
3:164750447 SI A>G	3	164750447	164750447	A	G	SI	c.2599T>C	NM_001041.3	NP_001032.2:p.(Tyr867His)	NC_000003.11:g.164750447A>G	VUS	1 lab	ebfac0ca18
4:56277867 TMEM165 C>T	4	56277867	56277867	C	T	TMEM165	c.294C>T	NM_018475.4	NP_060945.2:p.(Val98=)	NC_000004.11:g.56277867C>T	(Likely) benign	1 lab	ebfca760aa
9:139313549 PMPCA C>A	9	139313549	139313549	C	A	PMPCA	c.1254C>A	NM_015160.2	NP_055975.1:p.(Thr418=)	NC_000009.11:g.139313549C>A	(Likely) benign	1 lab	ebfff97132
1:43900083 SZT2 C>T	1	43900083	43900083	C	T	SZT2	c.5660C>T	NM_015284.3	NP_056099.3:p.(Pro1887Leu)	NC_000001.10:g.43900083C>T	(Likely) benign	1 lab	ec00011822
1:6027358 NPHP4 C>T	1	6027358	6027358	C	T	NPHP4	c.517+1G>A	NM_015102.4	NP_055917.1:p.?	NC_000001.10:g.6027358C>T	(Likely) pathogenic	1 lab	ec009ff7a6
6:86181145 NT5E T>C	6	86181145	86181145	T	C	NT5E	c.751+2T>C	NM_002526.3	NP_002517.1:p.?	NC_000006.11:g.86181145T>C	(Likely) pathogenic	1 lab	ec00f02b52
2:97526773 SEMA4C C>T	2	97526773	97526773	C	T	SEMA4C	c.2092G>A	NM_017789.5	NP_060259.4:p.(Ala698Thr)	NC_000002.11:g.97526773C>T	VUS	1 lab	ec00fabc3b
7:142983735 TMEM139 G>A	7	142983735	142983735	G	A	TMEM139	c.464G>A	NM_001282876.2	NP_001269805.1:p.(Ser155Asn)	NC_000007.13:g.142983735G>A	(Likely) benign	1 lab	ec04b4e387
19:7504957 ARHGEF18 C>G	19	7504957	7504957	C	G	ARHGEF18	c.-32C>G	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7504957C>G	(Likely) benign	1 lab	ec04d082c9
7:95813596 SLC25A13 C>A	7	95813596	95813596	C	A	SLC25A13	c.1173G>T	NM_001160210.1	NP_001153682.1:p.(Leu391=)	NC_000007.13:g.95813596C>A	(Likely) benign	1 lab	ec05615d47
6:10586757 GCNT2 G>A	6	10586757	10586757	G	A	GCNT2	c.535G>A	NM_145655.3	NP_663630.2:p.(Ala179Thr)	NC_000006.11:g.10586757G>A	(Likely) benign	1 lab	ec06816689
17:29554567 NF1 G>A	17	29554567	29554567	G	A	NF1	c.2352G>A	NM_000267.3	NP_000258.1:p.(Trp784Ter)	NC_000017.10:g.29554567G>A	(Likely) pathogenic	1 lab	ec06bc1e79
6:30996572 MUC22 A>G	6	30996572	30996572	A	G	MUC22	c.3364A>G	NM_001198815.1	NP_001185744.1:p.(Ser1122Gly)	NC_000006.11:g.30996572A>G	(Likely) benign	1 lab	ec08375fca
1:235922311 LYST C>A	1	235922311	235922311	C	A	LYST	c.6842G>T	NM_001301365.1	NP_001288294.1:p.(Gly2281Val)	NC_000001.10:g.235922311C>A	VUS	1 lab	ec0953a5d3
19:45211237 CEACAM16 G>T	19	45211237	45211237	G	T	CEACAM16	c.1045G>T	NM_001039213.4	NP_001034302.2:p.(Ala349Ser)	NC_000019.9:g.45211237G>T	(Likely) benign	1 lab	ec0cbb441d
X:130419955 IGSF1 C>T	X	130419955	130419955	C	T	IGSF1	c.165G>A	NM_001170961.1	NP_001164432.1:p.(Thr55=)	NC_000023.10:g.130419955C>T	(Likely) benign	1 lab	ec0cd853ea
10:129913842 MKI67 G>A	10	129913842	129913842	G	A	MKI67	c.830C>T	NM_002417.4	NP_002408.3:p.(Ala277Val)	NC_000010.10:g.129913842G>A	(Likely) benign	1 lab	ec0ebc57fc
1:215953294 USH2A C>T	1	215953294	215953294	C	T	USH2A	c.10830G>A	NM_206933.2	NP_996816.2:p.(Trp3610Ter)	NC_000001.10:g.215953294C>T	(Likely) pathogenic	1 lab	ec0eee024f
X:30578184 TASL A>C	X	30578184	30578184	A	C	TASL	c.289T>G	NM_025159.2	NP_079435.1:p.(Leu97Val)	NC_000023.10:g.30578184A>C	(Likely) benign	1 lab	ec1109947c
10:72360304 PRF1 G>A	10	72360304	72360304	G	A	PRF1	c.355C>T	NM_001083116.1	NP_001076585.1:p.(Arg119Trp)	NC_000010.10:g.72360304G>A	VUS	1 lab	ec11cce31d
11:117866331 IL10RA T>C	11	117866331	117866331	T	C	IL10RA	c.716T>C	NM_001558.3	NP_001549.2:p.(Phe239Ser)	NC_000011.9:g.117866331T>C	(Likely) benign	1 lab	ec1384e78d
11:66618137 PC C>T	11	66618137	66618137	C	T	PC	c.2473+8G>A	NM_001040716.1	NP_001035806.1:p.?	NC_000011.9:g.66618137C>T	(Likely) benign	1 lab	ec13892723
14:101347375 RTL1 C>T	14	101347375	101347375	C	T	RTL1	c.3751G>A	NM_001134888.2	NP_001128360.1:p.(Gly1251Ser)	NC_000014.8:g.101347375C>T	VUS	1 lab	ec13cea3e2
16:57974162 CNGB1 G>A	16	57974162	57974162	G	A	CNGB1	c.1185C>T	NM_001297.4	NP_001288.3:p.(Thr395=)	NC_000016.9:g.57974162G>A	(Likely) benign	1 lab	ec147f948e
5:163266 PLEKHG4B C>T	5	163266	163266	C	T	PLEKHG4B	c.3079C>T	NM_052909.4	NP_443141.4:p.(Arg1027Cys)	NC_000005.9:g.163266C>T	VUS	1 lab	ec14a263a5
15:51226840 AP4E1 G>T	15	51226840	51226840	G	T	AP4E1	c.889G>T	NM_007347.4	NP_031373.2:p.(Asp297Tyr)	NC_000015.9:g.51226840G>T	VUS	1 lab	ec1689af13
11:118367049 KMT2A G>A	11	118367049	118367049	G	A	KMT2A	c.5631G>A	NM_001197104.1	NP_001184033.1:p.(Ala1877=)	NC_000011.9:g.118367049G>A	(Likely) benign	1 lab	ec169ad25a
16:31284720 ITGAM A>G	16	31284720	31284720	A	G	ITGAM	c.739A>G	NM_001145808.1	NP_001139280.1:p.(Lys247Glu)	NC_000016.9:g.31284720A>G	(Likely) benign	1 lab	ec17bd9229
5:176637406 NSD1 TCGATAGA>T	5	176637406	176637413	TCGATAGA	T	NSD1	c.2007_2013del	NM_022455.5	NP_071900.2:p.(Phe669LeufsTer14)	NC_000005.9:g.176637407_176637413del	(Likely) pathogenic	1 lab	ec1c35c8d2
6:33137209 COL11A2 G>A	6	33137209	33137209	G	A	COL11A2	c.3749C>T	NM_080680.2	NP_542411.2:p.(Pro1250Leu)	NC_000006.11:g.33137209G>A	VUS	1 lab	ec1df50a0f
1:59148058 MYSM1 C>A	1	59148058	59148058	C	A	MYSM1	c.658G>T	NM_001085487.3	NP_001078956.1:p.(Asp220Tyr)	NC_000001.10:g.59148058C>A	VUS	1 lab	ec1fb8f05f
8:61736439 CHD7 T>G	8	61736439	61736439	T	G	CHD7				NC_000008.10:g.61736439T>G	(Likely) pathogenic	1 lab	27ce87c197
12:52966413 KRT74 G>A	12	52966413	52966413	G	A	KRT74	c.510C>T	NM_175053.3	NP_778223.2:p.(Thr170=)	NC_000012.11:g.52966413G>A	(Likely) benign	1 lab	ec2164edfe
2:179432588 TTN G>T	2	179432588	179432588	G	T	TTN	c.78271C>A	NM_001267550.1	NP_001254479.1:p.(Pro26091Thr)	NC_000002.11:g.179432588G>T	VUS	1 lab	ec21cc6fcc
X:149013249 MAGEA8 C>T	X	149013249	149013249	C	T	MAGEA8	c.203C>T	NM_001166400.1	NP_001159872.1:p.(Ala68Val)	NC_000023.10:g.149013249C>T	(Likely) benign	1 lab	ec22267f90
1:247588380 NLRP3 C>T	1	247588380	247588380	C	T	NLRP3	c.1629C>T	NM_001243133.1	NP_001230062.1:p.(Asn543=)	NC_000001.10:g.247588380C>T	(Likely) benign	1 lab	ec22b48f7c
14:77935489 AHSA1 G>A	14	77935489	77935489	G	A	AHSA1	c.914G>A	NM_012111.3	NP_036243.1:p.(Arg305Gln)	NC_000014.8:g.77935489G>A	VUS	1 lab	ec23c40fe0
8:126094012 WASHC5 A>C	8	126094012	126094012	A	C	WASHC5	c.418-9T>G	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126094012A>C	(Likely) benign	1 lab	ec24c1f6bb
20:1963610 PDYN T>C	20	1963610	1963610	T	C	PDYN	c.121A>G	NM_024411.4	NP_077722.1:p.(Asn41Asp)	NC_000020.10:g.1963610T>C	VUS	1 lab	ec27abeb2a
7:74199614 NCF1 C>T	7	74199614	74199614	C	T	NCF1	c.769C>T	NM_000265.5	NP_000256.4:p.(His257Tyr)	NC_000007.13:g.74199614C>T	VUS	1 lab	ec27c44ddc
15:43896309 STRC C>T	15	43896309	43896309	C	T	STRC	c.4260G>A	NM_153700.2	NP_714544.1:p.(Lys1420=)	NC_000015.9:g.43896309C>T	(Likely) benign	1 lab	ec28579cb3
2:170103260 LRP2 C>T	2	170103260	170103260	C	T	LRP2	c.3145G>A	NM_004525.3	NP_004516.2:p.(Asp1049Asn)	NC_000002.11:g.170103260C>T	(Likely) benign	1 lab	ec2ab868fe
11:67759043 UNC93B1 C>T	11	67759043	67759043	C	T	UNC93B1	c.1768G>A	NM_030930.2	NP_112192.2:p.(Gly590Arg)	NC_000011.9:g.67759043C>T	VUS	1 lab	ec2c0cae85
20:42195741 SGK2 C>A	20	42195741	42195741	C	A	SGK2	c.250C>A	NM_016276.3	NP_057360.2:p.(Pro84Thr)	NC_000020.10:g.42195741C>A	VUS	1 lab	ec2c3d1ed9
9:101558541 ANKS6 C>A	9	101558541	101558541	C	A	ANKS6	c.233G>T	NM_173551.4	NP_775822.3:p.(Gly78Val)	NC_000009.11:g.101558541C>A	VUS	1 lab	ec2d2d2552
2:27706794 IFT172 G>A	2	27706794	27706794	G	A	IFT172	c.347C>T	NM_015662.2	NP_056477.1:p.(Thr116Ile)	NC_000002.11:g.27706794G>A	VUS	1 lab	ec2ea154ed
9:114469004 SHOC1 G>T	9	114469004	114469004	G	T	SHOC1	c.2389C>A	NM_173521.4	NP_775792.4:p.(His797Asn)	NC_000009.11:g.114469004G>T	VUS	1 lab	ec309129b3
22:42607458 TCF20 A>T	22	42607458	42607458	A	T	TCF20	c.3854T>A	NM_005650.3	NP_005641.1:p.(Leu1285His)	NC_000022.10:g.42607458A>T	VUS	1 lab	ec30cf89e1
6:7576525 DSP A>C	6	7576525	7576525	A	C	DSP	c.2631-2A>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7576525A>C	(Likely) pathogenic	1 lab	ec31ba1c37
17:73826445 UNC13D T>C	17	73826445	73826445	T	C	UNC13D	c.2828A>G	NM_199242.2	NP_954712.1:p.(Asn943Ser)	NC_000017.10:g.73826445T>C	VUS	1 lab	ec34dfbeb8
16:85945232 IRF8 G>A	16	85945232	85945232	G	A	IRF8	c.445G>A	NM_001363907.1	NP_001350836.1:p.(Gly149Ser)	NC_000016.9:g.85945232G>A	(Likely) benign	1 lab	ec35c5ab67
12:66859100 GRIP1 T>C	12	66859100	66859100	T	C	GRIP1	c.827A>G	NM_021150.3	NP_066973.2:p.(Gln276Arg)	NC_000012.11:g.66859100T>C	(Likely) benign	1 lab	ec3705447a
2:242352722 FARP2 C>T	2	242352722	242352722	C	T	FARP2	c.509C>T	NM_014808.4	NP_055623.1:p.(Ser170Leu)	NC_000002.11:g.242352722C>T	VUS	1 lab	ec370a643f
1:151010141 BNIPL G>A	1	151010141	151010141	G	A	BNIPL	c.-110+3G>A	NM_001159642.1	NP_001153114.1:p.?	NC_000001.10:g.151010141G>A	(Likely) benign	1 lab	ec3810274c
X:53585776 HUWE1 T>G	X	53585776	53585776	T	G	HUWE1	c.8006-6A>C	NM_031407.6	NP_113584.3:p.?	NC_000023.10:g.53585776T>G	(Likely) benign	1 lab	ec392680b9
X:47497187 ELK1 G>A	X	47497187	47497187	G	A	ELK1	c.1049C>T	NM_001114123.2	NP_001107595.1:p.(Pro350Leu)	NC_000023.10:g.47497187G>A	VUS	1 lab	ec3980165a
2:110922734 NPHP1 T>TA	2	110922734	110922740	T	TA	NPHP1	c.625-3dup	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110922740dup	(Likely) benign	1 lab	ec3cf8f0be
X:85156079 CHM G>A	X	85156079	85156079	G	A	CHM	c.1349+10C>T	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85156079G>A	(Likely) benign	1 lab	ec3eeff7ab
X:100808737 ARMCX1 G>C	X	100808737	100808737	G	C	ARMCX1	c.824G>C	NM_016608.1	NP_057692.1:p.(Ser275Thr)	NC_000023.10:g.100808737G>C	(Likely) benign	1 lab	ec4011a6bf
13:31821224 B3GLCT C>T	13	31821224	31821224	C	T	B3GLCT	c.335C>T	NM_194318.3	NP_919299.3:p.(Pro112Leu)	NC_000013.10:g.31821224C>T	VUS	1 lab	ec40d9a676
7:99699489 AP4M1 C>G	7	99699489	99699489	C	G	AP4M1	c.59-14C>G	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99699489C>G	(Likely) benign	1 lab	ec41ae58ef
2:170089924 LRP2 T>C	2	170089924	170089924	T	C	LRP2	c.5095A>G	NM_004525.3	NP_004516.2:p.(Asn1699Asp)	NC_000002.11:g.170089924T>C	(Likely) benign	1 lab	ec42285c11
2:207656486 FASTKD2 C>T	2	207656486	207656486	C	T	FASTKD2	c.2093C>T	NM_001136194.1	NP_001129666.1:p.(Ala698Val)	NC_000002.11:g.207656486C>T	(Likely) benign	1 lab	ec42a78efe
2:166789567 TTC21B C>A	2	166789567	166789567	C	A	TTC21B	c.711G>T	NM_024753.4	NP_079029.3:p.(Arg237Ser)	NC_000002.11:g.166789567C>A	VUS	1 lab	ec42b1c42d
17:80039509 FASN C>T	17	80039509	80039509	C	T	FASN	c.6374G>A	NM_004104.5	NP_004095.4:p.(Arg2125Gln)	NC_000017.10:g.80039509C>T	(Likely) benign	1 lab	ec42ccec8c
8:144993155 PLEC G>A	8	144993155	144993155	G	A	PLEC	c.11245C>T	NM_201380.3	NP_958782.1:p.(Arg3749Trp)	NC_000008.10:g.144993155G>A	VUS	1 lab	ec44935602
10:15701035 ITGA8 G>A	10	15701035	15701035	G	A	ITGA8	c.911C>T	NM_003638.2	NP_003629.2:p.(Thr304Met)	NC_000010.10:g.15701035G>A	VUS	1 lab	ec45f13d13
11:26529773 ANO3 G>T	11	26529773	26529773	G	T	ANO3	c.555G>T	NM_031418.4	NP_113606.2:p.(Lys185Asn)	NC_000011.9:g.26529773G>T	VUS	1 lab	ec4658bdfa
2:73613109 ALMS1 A>G	2	73613109	73613109	A	G	ALMS1	c.116A>G	NM_015120.4	NP_055935.4:p.(Asp39Gly)	NC_000002.11:g.73613109A>G	(Likely) benign	1 lab	ec4913c4be
6:152716744 SYNE1 G>C	6	152716744	152716744	G	C	SYNE1	c.7619C>G	NM_182961.3	NP_892006.3:p.(Thr2540Arg)	NC_000006.11:g.152716744G>C	VUS	1 lab	ec494bf299
1:98039515 DPYD A>G	1	98039515	98039515	A	G	DPYD	c.1140T>C	NM_000110.3	NP_000101.2:p.(Ala380=)	NC_000001.10:g.98039515A>G	(Likely) benign	1 lab	ec49d6fb31
12:56348068 PMEL C>T	12	56348068	56348068	C	T	PMEL	c.1916G>A	NM_006928.4	NP_008859.1:p.(Arg639His)	NC_000012.11:g.56348068C>T	(Likely) benign	1 lab	ec4a93a7bc
11:36615362 RAG2 CT>C	11	36615362	36615367	CT	C	RAG2	c.356del	NM_000536.4	NP_000527.2:p.(Lys119ArgfsTer12)	NC_000011.9:g.36615367del	(Likely) pathogenic	1 lab	ec4e3b0611
19:12924005 RNASEH2A C>T	19	12924005	12924005	C	T	RNASEH2A	c.746C>T	NM_006397.2	NP_006388.2:p.(Ala249Val)	NC_000019.9:g.12924005C>T	VUS	1 lab	ec4ef0519a
17:39923834 JUP T>G	17	39923834	39923834	T	G	JUP	c.708-2A>C	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39923834T>G	VUS	1 lab	ec4ff04a58
11:17591998 OTOG T>A	11	17591998	17591998	T	A	OTOG				NC_000011.9:g.17591998T>A	VUS	1 lab	6032bb3eb7
1:12304354 VPS13D A>G	1	12304354	12304354	A	G	VPS13D	c.227A>G	NM_015378.4	NP_056193.2:p.(Asp76Gly)	NC_000001.10:g.12304354A>G	VUS	1 lab	ec50b9f834
6:137167217 PEX7 C>T	6	137167217	137167217	C	T	PEX7	c.424C>T	NM_000288.3	NP_000279.1:p.(Pro142Ser)	NC_000006.11:g.137167217C>T	VUS	1 lab	ec5136af89
16:77398079 ADAMTS18 G>A	16	77398079	77398079	G	A	ADAMTS18	c.456+6C>T	NM_001326358.1	NP_001313287.1:p.?	NC_000016.9:g.77398079G>A	(Likely) benign	1 lab	ec51f07325
12:52631309 KRT7 A>C	12	52631309	52631309	A	C	KRT7	c.553A>C	NM_005556.3	NP_005547.3:p.(Asn185His)	NC_000012.11:g.52631309A>C	VUS	1 lab	ec5256a50e
2:163167341 IFIH1 G>A	2	163167341	163167341	G	A	IFIH1	c.556C>T	NM_022168.4	NP_071451.2:p.(Arg186Cys)	NC_000002.11:g.163167341G>A	(Likely) benign	1 lab	ec528e1fae
9:138645822 KCNT1 G>A	9	138645822	138645822	G	A	KCNT1	c.474G>A	NM_020822.2	NP_065873.2:p.(Ser158=)	NC_000009.11:g.138645822G>A	(Likely) benign	1 lab	ec52954600
X:101395707 TCEAL6 G>A	X	101395707	101395707	G	A	TCEAL6	c.*45C>T	NM_001006938.2	NP_001006939.2:p.?	NC_000023.10:g.101395707G>A	(Likely) benign	1 lab	ec54b5e000
1:109261430 FNDC7 AG>A	1	109261430	109261431	AG	A	FNDC7	c.358del	NM_001144937.3	NP_001138409.1:p.(Glu120LysfsTer2)	NC_000001.10:g.109261431del	VUS	1 lab	ec54f6e1cf
3:72957562 GXYLT2 A>C	3	72957562	72957562	A	C	GXYLT2	c.320A>C	NM_001080393.1	NP_001073862.1:p.(Glu107Ala)	NC_000003.11:g.72957562A>C	VUS	1 lab	ec55e134db
19:48653387 LIG1 T>C	19	48653387	48653387	T	C	LIG1	c.652A>G	NM_001320970.1	NP_001307899.1:p.(Lys218Glu)	NC_000019.9:g.48653387T>C	(Likely) benign	1 lab	ec5a4b81c3
4:79461920 FRAS1 C>T	4	79461920	79461920	C	T	FRAS1	c.11681C>T	NM_025074.7	NP_079350.5:p.(Ala3894Val)	NC_000004.11:g.79461920C>T	(Likely) benign	1 lab	ec5a5ac851
11:88068164 CTSC T>C	11	88068164	88068164	T	C	CTSC	c.259A>G	NM_148170.4	NP_680475.1:p.(Ile87Val)	NC_000011.9:g.88068164T>C	VUS	1 lab	ec5a937bcc
1:45292590 PTCH2 C>T	1	45292590	45292590	C	T	PTCH2	c.2679G>A	NM_003738.5	NP_003729.3:p.(Thr893=)	NC_000001.10:g.45292590C>T	(Likely) benign	1 lab	ec5b883091
10:70644350 STOX1 G>A	10	70644350	70644350	G	A	STOX1	c.798G>A	NM_152709.5	NP_689922.3:p.(Arg266=)	NC_000010.10:g.70644350G>A	(Likely) benign	1 lab	ec5e3b0667
1:11346038 UBIAD1 C>T	1	11346038	11346038	C	T	UBIAD1	c.867C>T	NM_013319.2	NP_037451.1:p.(Thr289=)	NC_000001.10:g.11346038C>T	(Likely) benign	1 lab	ec613792fa
3:127339706 MCM2 A>G	3	127339706	127339706	A	G	MCM2	c.2431A>G	NM_004526.3	NP_004517.2:p.(Met811Val)	NC_000003.11:g.127339706A>G	(Likely) benign	1 lab	ec61e2551d
3:38350536 SLC22A14 C>A	3	38350536	38350536	C	A	SLC22A14	c.867C>A	NM_004803.4	NP_004794.2:p.(Ile289=)	NC_000003.11:g.38350536C>A	(Likely) benign	1 lab	ec621b9cf7
17:44060592 MAPT G>GC	17	44060592	44060598	G	GC	MAPT	c.428dup	NM_001123066.3	NP_001116538.2:p.(Gly144ArgfsTer18)	NC_000017.10:g.44060598dup	(Likely) pathogenic	1 lab	ec6408dfdf
3:38739839 SCN10A G>A	3	38739839	38739839	G	A	SCN10A	c.4872C>T	NM_006514.3	NP_006505.3:p.(Phe1624=)	NC_000003.11:g.38739839G>A	(Likely) benign	1 lab	ec64438ac9
5:223679 SDHA A>G	5	223679	223679	A	G	SDHA	c.146A>G	NM_004168.3	NP_004159.2:p.(Asp49Gly)	NC_000005.9:g.223679A>G	(Likely) benign	1 lab	ec660a5e99
10:102250506 SEC31B G>A	10	102250506	102250506	G	A	SEC31B	c.2607C>T	NM_015490.4	NP_056305.1:p.(Pro869=)	NC_000010.10:g.102250506G>A	(Likely) benign	1 lab	ec666c6b1a
2:179410776 TTN C>T	2	179410776	179410776	C	T	TTN	c.95187G>A	NM_001267550.1	NP_001254479.1:p.(Trp31729Ter)	NC_000002.11:g.179410776C>T	(Likely) pathogenic	1 lab	ec683c93ee
11:609305 PHRF1 C>T	11	609305	609305	C	T	PHRF1	c.3849C>T	NM_001286581.2	NP_001273510.1:p.(Leu1283=)	NC_000011.9:g.609305C>T	(Likely) benign	1 lab	ec69846f36
9:131072049 TRUB2 C>T	9	131072049	131072049	C	T	TRUB2	c.776G>A	NM_015679.3	NP_056494.1:p.(Arg259His)	NC_000009.11:g.131072049C>T	VUS	1 lab	ec6a21b399
1:12030760 PLOD1 C>T	1	12030760	12030760	C	T	PLOD1	c.1789C>T	NM_000302.3	NP_000293.2:p.(Pro597Ser)	NC_000001.10:g.12030760C>T	VUS	1 lab	ec6a36f947
19:17753703 UNC13A C>A	19	17753703	17753703	C	A	UNC13A	c.2423G>T	NM_001080421.2	NP_001073890.2:p.(Gly808Val)	NC_000019.9:g.17753703C>A	VUS	1 lab	ec6c47862c
16:1259251 CACNA1H C>T	16	1259251	1259251	C	T	CACNA1H	c.3583C>T	NM_021098.2	NP_066921.2:p.(Arg1195Trp)	NC_000016.9:g.1259251C>T	VUS	1 lab	ec6c4facf9
X:53230876 KDM5C G>GT	X	53230876	53230877	G	GT	KDM5C	c.1916dup	NM_004187.3	NP_004178.2:p.(Tyr639Ter)	NC_000023.10:g.53230877dup	(Likely) pathogenic	1 lab	ec6cdc47e4
X:153588099 FLNA C>T	X	153588099	153588099	C	T	FLNA	c.3979+1G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153588099C>T	(Likely) pathogenic	1 lab	ec6cf9771e
2:84658722 SUCLG1 G>A	2	84658722	84658722	G	A	SUCLG1	c.735C>T	NM_003849.3	NP_003840.2:p.(Asn245=)	NC_000002.11:g.84658722G>A	(Likely) benign	1 lab	ec6e368a13
1:235938298 LYST T>A	1	235938298	235938298	T	A	LYST	c.5549A>T	NM_001301365.1	NP_001288294.1:p.(His1850Leu)	NC_000001.10:g.235938298T>A	(Likely) benign	1 lab	ec6fb9128f
16:2141853 PKD1 C>A	16	2141853	2141853	C	A	PKD1	c.11466G>T	NM_001009944.2	NP_001009944.2:p.(Glu3822Asp)	NC_000016.9:g.2141853C>A	(Likely) benign	1 lab	ec711a35ae
9:136516779 DBH C>T	9	136516779	136516779	C	T	DBH	c.1215C>T	NM_000787.3	NP_000778.3:p.(His405=)	NC_000009.11:g.136516779C>T	(Likely) benign	1 lab	ec737eb9d8
9:33943430 UBAP2 G>A	9	33943430	33943430	G	A	UBAP2	c.1703C>T	NM_018449.3	NP_060919.3:p.(Ser568Leu)	NC_000009.11:g.33943430G>A	VUS	1 lab	ec74f35711
9:79326224 PRUNE2 G>A	9	79326224	79326224	G	A	PRUNE2	c.966C>T	NM_015225.3	NP_056040.2:p.(Pro322=)	NC_000009.11:g.79326224G>A	(Likely) benign	1 lab	ec7544311e
9:132586212 TOR1A C>T	9	132586212	132586212	C	T	TOR1A	c.153G>A	NM_000113.2	NP_000104.1:p.(Gly51=)	NC_000009.11:g.132586212C>T	(Likely) benign	1 lab	ec75b83bf2
11:67290169 CABP2 C>G	11	67290169	67290169	C	G	CABP2	c.61G>C	NM_016366.2	NP_057450.2:p.(Gly21Arg)	NC_000011.9:g.67290169C>G	(Likely) benign	1 lab	ec75ce674b
13:32911735 BRCA2 T>C	13	32911735	32911735	T	C	BRCA2	c.3243T>C	NM_000059.3	NP_000050.2:p.(Cys1081=)	NC_000013.10:g.32911735T>C	(Likely) benign	1 lab	ec77573941
X:152584609 PNMA6F G>A	X	152584609	152584609	G	A	PNMA6F	c.1524C>T	NM_001354980.1	NP_001341909.1:p.(Asp508=)	NC_000023.10:g.152584609G>A	(Likely) benign	1 lab	ec7a01f3d9
7:117254665 CFTR A>G	7	117254665	117254665	A	G	CFTR	c.3368-2A>G	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117254665A>G	(Likely) pathogenic	1 lab	ec7a0b3867
13:39454511 FREM2 G>T	13	39454511	39454511	G	T	FREM2	c.9097G>T	NM_207361.5	NP_997244.4:p.(Glu3033Ter)	NC_000013.10:g.39454511G>T	(Likely) pathogenic	1 lab	ec7ea5c437
16:15832476 MYH11 T>C	16	15832476	15832476	T	C	MYH11	c.3088A>G	NM_001040113.1	NP_001035202.1:p.(Lys1030Glu)	NC_000016.9:g.15832476T>C	VUS	1 lab	ec7f0f1576
X:110494862 CAPN6 C>T	X	110494862	110494862	C	T	CAPN6	c.808G>A	NM_014289.3	NP_055104.2:p.(Glu270Lys)	NC_000023.10:g.110494862C>T	(Likely) benign	1 lab	ec80055137
5:149500576 PDGFRB G>A	5	149500576	149500576	G	A	PDGFRB	c.1981-3C>T	NM_001355017.1	NP_001341946.1:p.?	NC_000005.9:g.149500576G>A	(Likely) benign	1 lab	ec800ba361
3:148877979 HPS3 G>A	3	148877979	148877979	G	A	HPS3	c.2019G>A	NM_032383.4	NP_115759.2:p.(Ser673=)	NC_000003.11:g.148877979G>A	(Likely) benign	1 lab	ec81fa3ed0
9:135224739 SETX G>A	9	135224739	135224739	G	A	SETX	c.77C>T	NM_015046.5	NP_055861.3:p.(Pro26Leu)	NC_000009.11:g.135224739G>A	(Likely) benign	1 lab	ec825cf933
20:42252688 IFT52 C>T	20	42252688	42252688	C	T	IFT52	c.395+3C>T	NM_001323578.1	NP_001310507.1:p.?	NC_000020.10:g.42252688C>T	VUS	1 lab	ec87d615d2
15:66995731 SMAD6 G>A	15	66995731	66995731	G	A	SMAD6	c.135G>A	NM_005585.4	NP_005576.3:p.(Pro45=)	NC_000015.9:g.66995731G>A	(Likely) benign	1 lab	ec8817e127
3:71027061 FOXP1 A>AGAGG	3	71027061	71027066	A	AGAGG	FOXP1	c.1262_1265dup	NM_001349338.1	NP_001336267.1:p.(Val423LeufsTer39)	NC_000003.11:g.71027063_71027066dup	(Likely) pathogenic	1 lab	ec887a3b83
15:86685272 AGBL1 A>C	15	86685272	86685272	A	C	AGBL1	c.89A>C	NM_152336.3	NP_689549.3:p.(Lys30Thr)	NC_000015.9:g.86685272A>C	VUS	1 lab	ec88b6bddd
X:32716003 DMD C>A	X	32716003	32716003	C	A	DMD	c.575G>T	NM_004010.3	NP_004001.1:p.(Ser192Ile)	NC_000023.10:g.32716003C>A	(Likely) benign	1 lab	ec8bf7330c
10:73269866 CDH23 A>G	10	73269866	73269866	A	G	CDH23	c.173A>G	NM_022124.5	NP_071407.4:p.(Gln58Arg)	NC_000010.10:g.73269866A>G	(Likely) benign	1 lab	ec8dc551d2
2:136566911 LCT C>T	2	136566911	136566911	C	T	LCT	c.3006G>A	NM_002299.2	NP_002290.2:p.(Arg1002=)	NC_000002.11:g.136566911C>T	(Likely) benign	1 lab	ec8f089d2e
3:124351471 KALRN G>A	3	124351471	124351471	G	A	KALRN	c.5381G>A	NM_001024660.4	NP_001019831.2:p.(Arg1794His)	NC_000003.11:g.124351471G>A	VUS	1 lab	ec8f839cb3
X:308384 PPP2R3B G>A	X	308384	308384	G	A	PPP2R3B	c.555C>T	NM_013239.4	NP_037371.2:p.(Gly185=)	NC_000023.10:g.308384G>A	(Likely) benign	1 lab	ec9007d800
6:56485346 DST C>T	6	56485346	56485346	C	T	DST	c.3486G>A	NM_001723.5	NP_001714.1:p.(Pro1162=)	NC_000006.11:g.56485346C>T	(Likely) benign	1 lab	ec946efb6e
17:1264611 YWHAE T>A	17	1264611	1264611	T	A	YWHAE	c.372-19A>T	NM_006761.4	NP_006752.1:p.?	NC_000017.10:g.1264611T>A	(Likely) benign	1 lab	ec94d76c56
X:139866052 CDR1 G>A	X	139866052	139866052	G	A	CDR1	c.480C>T	NM_004065.2	NP_004056.2:p.(Ser160=)	NC_000023.10:g.139866052G>A	(Likely) benign	1 lab	ec94e990e7
X:133609228 HPRT1 G>A	X	133609228	133609228	G	A	HPRT1	c.152G>A	NM_000194.2	NP_000185.1:p.(Arg51Gln)	NC_000023.10:g.133609228G>A	(Likely) benign	1 lab	ec95c4bcc0
8:10480335 RP1L1 G>A	8	10480335	10480335	G	A	RP1L1	c.377C>T	NM_178857.5	NP_849188.4:p.(Ala126Val)	NC_000008.10:g.10480335G>A	(Likely) benign	1 lab	ec96e49aff
11:6637682 TPP1 A>G	11	6637682	6637682	A	G	TPP1	c.939T>C	NM_000391.3	NP_000382.3:p.(Asn313=)	NC_000011.9:g.6637682A>G	(Likely) benign	1 lab	ec96f49616
11:119212456 MFRP C>G	11	119212456	119212456	C	G	MFRP	c.1542G>C	NM_031433.3	NP_113621.1:p.(Gln514His)	NC_000011.9:g.119212456C>G	VUS	1 lab	ec98b55813
19:38573594 SIPA1L3 C>G	19	38573594	38573594	C	G	SIPA1L3	c.1389C>G	NM_015073.2	NP_055888.1:p.(Ala463=)	NC_000019.9:g.38573594C>G	(Likely) benign	1 lab	ec9c475325
2:21235484 APOB G>A	2	21235484	21235484	G	A	APOB	c.4256C>T	NM_000384.2	NP_000375.2:p.(Thr1419Ile)	NC_000002.11:g.21235484G>A	VUS	1 lab	ec9cb35e95
1:201335973 TNNT2 T>G	1	201335973	201335973	T	G	TNNT2	c.196A>C	NM_001001430.1	NP_001001430.1:p.(Lys66Gln)	NC_000001.10:g.201335973T>G	VUS	1 lab	ec9d30ab8a
8:134030065 TG C>G	8	134030065	134030065	C	G	TG	c.6605C>G	NM_003235.4	NP_003226.4:p.(Pro2202Arg)	NC_000008.10:g.134030065C>G	VUS	1 lab	ec9d64b16f
7:66459273 SBDS TA>AG	7	66459273	66459274	TA	AG	SBDS	c.183_184delinsCT	NM_016038.2	NP_057122.2:p.(Lys62Ter)	NC_000007.13:g.66459273_66459274delinsAG	(Likely) pathogenic	1 lab	ec9e075d13
10:48390752 RBP3 C>T	10	48390752	48390752	C	T	RBP3	c.126G>A	NM_002900.2	NP_002891.1:p.(Pro42=)	NC_000010.10:g.48390752C>T	(Likely) benign	1 lab	ec9fd891f0
8:68028208 CSPP1 T>C	8	68028208	68028208	T	C	CSPP1	c.1332T>C	NM_024790.6	NP_079066.5:p.(Pro444=)	NC_000008.10:g.68028208T>C	(Likely) benign	1 lab	eca18e317f
2:179585946 TTN A>GT	2	179585946	179585946	A	GT	TTN	c.22817-17delinsAC	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179585946delinsGT	(Likely) benign	1 lab	eca29dc233
3:184044758 EIF4G1 C>T	3	184044758	184044758	C	T	EIF4G1	c.3418C>T	NM_182917.4	NP_886553.3:p.(Arg1140Cys)	NC_000003.11:g.184044758C>T	VUS	1 lab	eca5768abe
22:26294313 MYO18B A>G	22	26294313	26294313	A	G	MYO18B	c.4711A>G	NM_001318245.1	NP_001305174.1:p.(Met1571Val)	NC_000022.10:g.26294313A>G	VUS	1 lab	eca680cfc7
1:235973132 LYST C>T	1	235973132	235973132	C	T	LYST	c.986G>A	NM_001301365.1	NP_001288294.1:p.(Arg329Gln)	NC_000001.10:g.235973132C>T	VUS	1 lab	eca6f8d09b
16:8844347 ABAT C>T	16	8844347	8844347	C	T	ABAT	c.267C>T	NM_000663.4	NP_000654.2:p.(Asp89=)	NC_000016.9:g.8844347C>T	(Likely) benign	1 lab	eca715d8ae
10:75856983 VCL G>A	10	75856983	75856983	G	A	VCL	c.1765G>A	NM_014000.2	NP_054706.1:p.(Glu589Lys)	NC_000010.10:g.75856983G>A	VUS	1 lab	eca85f411d
13:110827537 COL4A1 G>A	13	110827537	110827537	G	A	COL4A1	c.3198+28C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110827537G>A	(Likely) benign	1 lab	eca861d011
11:31653907 ELP4 C>T	11	31653907	31653907	C	T	ELP4	c.882C>T	NM_001288726.1	NP_001275655.1:p.(Thr294=)	NC_000011.9:g.31653907C>T	(Likely) benign	1 lab	ecaf07f2fc
16:72830796 ZFHX3 G>T	16	72830796	72830796	G	T	ZFHX3	c.5785C>A	NM_006885.3	NP_008816.3:p.(Pro1929Thr)	NC_000016.9:g.72830796G>T	(Likely) benign	1 lab	ecafcee36d
2:5833184 SOX11 GCCGACTACC>G	2	5833184	5833201	GCCGACTACC	G	SOX11	c.340_348del	NM_003108.4	NP_003099.1:p.(Pro114_Tyr116del)	NC_000002.11:g.5833193_5833201del	VUS	1 lab	ecb01d5cf4
1:12017890 PLOD1 C>G	1	12017890	12017890	C	G	PLOD1	c.742-9C>G	NM_000302.3	NP_000293.2:p.?	NC_000001.10:g.12017890C>G	(Likely) benign	1 lab	ecb053e9f3
19:1220694 STK11 A>T	19	1220694	1220694	A	T	STK11	c.712A>T	NM_000455.4	NP_000446.1:p.(Ile238Phe)	NC_000019.9:g.1220694A>T	(Likely) pathogenic	1 lab	ecb0e4581f
11:22294543 ANO5 G>A	11	22294543	22294543	G	A	ANO5	c.2235+8G>A	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22294543G>A	(Likely) benign	1 lab	ecb15c46a9
18:20570963 RBBP8 A>G	18	20570963	20570963	A	G	RBBP8	c.871A>G	NM_002894.2	NP_002885.1:p.(Lys291Glu)	NC_000018.9:g.20570963A>G	VUS	1 lab	ecb17abd64
1:7723852 CAMTA1 C>T	1	7723852	7723852	C	T	CAMTA1	c.1245C>T	NM_015215.3	NP_056030.1:p.(Thr415=)	NC_000001.10:g.7723852C>T	(Likely) benign	1 lab	ecb2c60984
20:33583274 MYH7B C>T	20	33583274	33583274	C	T	MYH7B	c.2962C>T	NM_020884.4	NP_065935.3:p.(Arg988Cys)	NC_000020.10:g.33583274C>T	VUS	1 lab	ecb3176893
9:133962903 LAMC3 G>A	9	133962903	133962903	G	A	LAMC3	c.4271G>A	NM_006059.3	NP_006050.3:p.(Arg1424His)	NC_000009.11:g.133962903G>A	(Likely) benign	1 lab	ecb411ff74
10:127459133 MMP21 G>A	10	127459133	127459133	G	A	MMP21	c.1007C>T	NM_147191.1	NP_671724.1:p.(Ala336Val)	NC_000010.10:g.127459133G>A	(Likely) benign	1 lab	ecb500a7d0
17:44073862 MAPT A>C	17	44073862	44073862	A	C	MAPT	c.1659A>C	NM_001123066.3	NP_001116538.2:p.(Pro553=)	NC_000017.10:g.44073862A>C	(Likely) benign	1 lab	ecb6a49bdd
12:124156050 TCTN2 C>T	12	124156050	124156050	C	T	TCTN2	c.83-4C>T	NM_024809.4	NP_079085.2:p.?	NC_000012.11:g.124156050C>T	(Likely) benign	1 lab	ecb7fe8b50
17:29661899 NF1 G>T	17	29661899	29661899	G	T	NF1	c.5793G>T	NM_000267.3	NP_000258.1:p.(Trp1931Cys)	NC_000017.10:g.29661899G>T	(Likely) pathogenic	1 lab	ecb8b4e343
9:35091487 PIGO T>G	9	35091487	35091487	T	G	PIGO	c.2397A>C	NM_032634.3	NP_116023.2:p.(Gln799His)	NC_000009.11:g.35091487T>G	VUS	1 lab	ecb8bccdf4
12:53183943 KRT3 G>A	12	53183943	53183943	G	A	KRT3	c.1770C>T	NM_057088.2	NP_476429.2:p.(Gly590=)	NC_000012.11:g.53183943G>A	(Likely) benign	1 lab	ecb91f525d
2:173885435 RAPGEF4 G>A	2	173885435	173885435	G	A	RAPGEF4	c.2245G>A	NM_007023.4	NP_008954.2:p.(Asp749Asn)	NC_000002.11:g.173885435G>A	VUS	1 lab	ecba197a1e
X:53222266 KDM5C G>T	X	53222266	53222266	G	T	KDM5C	c.4566C>A	NM_004187.3	NP_004178.2:p.(Asn1522Lys)	NC_000023.10:g.53222266G>T	(Likely) benign	1 lab	ecbd59b124
4:123664050 BBS12 A>G	4	123664050	123664050	A	G	BBS12	c.1003A>G	NM_001178007.1	NP_001171478.1:p.(Ile335Val)	NC_000004.11:g.123664050A>G	VUS	1 lab	ecbed9fec0
20:34832803 AAR2 C>T	20	34832803	34832803	C	T	AAR2	c.942C>T	NM_015511.4	NP_056326.2:p.(Phe314=)	NC_000020.10:g.34832803C>T	(Likely) benign	1 lab	ecbfc7311c
19:20308149 ZNF486 C>G	19	20308149	20308149	C	G	ZNF486	c.630C>G	NM_052852.4	NP_443084.2:p.(Tyr210Ter)	NC_000019.9:g.20308149C>G	(Likely) benign	1 lab	ecc25f138e
2:179497142 TTN T>TATCA	2	179497142	179497147	T	TATCA	TTN	c.43481-6_43481-3dup	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179497144_179497147dup	VUS	1 lab	ecc450fc41
X:22095601 PHEX T>C	X	22095601	22095601	T	C	PHEX	c.444T>C	NM_000444.5	NP_000435.3:p.(Ile148=)	NC_000023.10:g.22095601T>C	(Likely) benign	1 lab	ecc46d54d0
7:99808710 STAG3 G>C	7	99808710	99808710	G	C	STAG3	c.3315G>C	NM_001282717.1	NP_001269646.1:p.(Thr1105=)	NC_000007.13:g.99808710G>C	(Likely) benign	1 lab	ecc5a9c1d1
2:98377081 TMEM131 G>A	2	98377081	98377081	G	A	TMEM131	c.5083C>T	NM_015348.2	NP_056163.1:p.(Pro1695Ser)	NC_000002.11:g.98377081G>A	(Likely) benign	1 lab	ecc5c4e925
8:141381088 TRAPPC9 C>T	8	141381088	141381088	C	T	TRAPPC9	c.1299G>A	NM_001321646.1	NP_001308575.1:p.(Ser433=)	NC_000008.10:g.141381088C>T	(Likely) benign	1 lab	ecc6e06eb1
21:45945599 TSPEAR G>A	21	45945599	45945599	G	A	TSPEAR	c.1069C>T	NM_001272037.1	NP_001258966.1:p.(Arg357Ter)	NC_000021.8:g.45945599G>A	(Likely) pathogenic	1 lab	ecca35db71
15:89865078 POLG G>A	15	89865078	89865078	G	A	POLG	c.2487C>T	NM_002693.2	NP_002684.1:p.(Pro829=)	NC_000015.9:g.89865078G>A	(Likely) benign	1 lab	ecca957295
16:58031932 ZNF319 C>T	16	58031932	58031932	C	T	ZNF319	c.238G>A	NM_020807.2	NP_065858.1:p.(Val80Met)	NC_000016.9:g.58031932C>T	VUS	1 lab	eccb9db46f
18:56279025 ALPK2 T>G	18	56279025	56279025	T	G	ALPK2	c.5A>C	NM_052947.4	NP_443179.3:p.(Lys2Thr)	NC_000018.9:g.56279025T>G	(Likely) benign	1 lab	eccc31ddf7
1:236918363 ACTN2 C>G	1	236918363	236918363	C	G	ACTN2	c.1395C>G	NM_001278344.1	NP_001265273.1:p.(Asp465Glu)	NC_000001.10:g.236918363C>G	VUS	1 lab	eccc75d5bd
2:219288551 VIL1 C>T	2	219288551	219288551	C	T	VIL1	c.50C>T	NM_007127.2	NP_009058.2:p.(Pro17Leu)	NC_000002.11:g.219288551C>T	VUS	1 lab	eccd3362f2
17:76399938 PGS1 C>T	17	76399938	76399938	C	T	PGS1	c.1170C>T	NM_024419.5	NP_077733.3:p.(Asn390=)	NC_000017.10:g.76399938C>T	(Likely) benign	1 lab	ecce2af8ed
X:50350775 SHROOM4 G>C	X	50350775	50350775	G	C	SHROOM4	c.3367C>G	NM_020717.3	NP_065768.2:p.(Gln1123Glu)	NC_000023.10:g.50350775G>C	(Likely) benign	1 lab	eccf970074
15:99673063 SYNM G>A	15	99673063	99673063	G	A	SYNM	c.4498G>A	NM_145728.2	NP_663780.2:p.(Ala1500Thr)	NC_000015.9:g.99673063G>A	(Likely) benign	1 lab	eccfa67988
14:74959920 NPC2 C>A	14	74959920	74959920	C	A	NPC2	c.58G>T	NM_006432.4	NP_006423.1:p.(Glu20Ter)	NC_000014.8:g.74959920C>A	(Likely) pathogenic	1 lab	ecd59d7b52
10:89623885 PTEN G>A	10	89623885	89623885	G	A	PTEN	c.178G>A	NM_001304717.5	NP_001291646.4:p.(Val60Ile)	NC_000010.10:g.89623885G>A	(Likely) benign	1 lab	ecd66f9412
X:119005313 RNF113A T>C	X	119005313	119005313	T	C	RNF113A	c.264A>G	NM_006978.2	NP_008909.1:p.(Glu88=)	NC_000023.10:g.119005313T>C	(Likely) benign	1 lab	ecd78203e4
17:60642440 TLK2 CA>C	17	60642440	60642441	CA	C	TLK2	c.911del	NM_006852.6	NP_006843.2:p.(His304ProfsTer25)	NC_000017.10:g.60642441del	(Likely) pathogenic	1 lab	ecd85fe1f8
7:117304782 CFTR T>C	7	117304782	117304782	T	C	CFTR	c.4004T>C	NM_000492.3	NP_000483.3:p.(Leu1335Pro)	NC_000007.13:g.117304782T>C	(Likely) pathogenic	1 lab	ecdbeb0646
15:77906581 LINGO1 G>A	15	77906581	77906581	G	A	LINGO1	c.1650C>T	NM_001301191.1	NP_001288120.1:p.(Thr550=)	NC_000015.9:g.77906581G>A	(Likely) benign	1 lab	ecdcf6ba95
7:50468071 IKZF1 G>A	7	50468071	50468071	G	A	IKZF1	c.1306G>A	NM_006060.6	NP_006051.1:p.(Asp436Asn)	NC_000007.13:g.50468071G>A	VUS	1 lab	ecddef02ca
X:154003522 DKC1 G>T	X	154003522	154003522	G	T	DKC1	c.1312G>T	NM_001363.3	NP_001354.1:p.(Val438Phe)	NC_000023.10:g.154003522G>T	VUS	1 lab	ecde790831
20:2640691 IDH3B G>A	20	2640691	2640691	G	A	IDH3B	c.900C>T	NM_006899.4	NP_008830.2:p.(Tyr300=)	NC_000020.10:g.2640691G>A	(Likely) benign	1 lab	ecdf96c361
2:179494148 TTN C>T	2	179494148	179494148	C	T	TTN	c.44304G>A	NM_001267550.1	NP_001254479.1:p.(Arg14768=)	NC_000002.11:g.179494148C>T	(Likely) benign	1 lab	ece0303756
16:2114306 TSC2 C>G	16	2114306	2114306	C	G	TSC2	c.1477C>G	NM_000548.3	NP_000539.2:p.(Leu493Val)	NC_000016.9:g.2114306C>G	VUS	1 lab	ece05cb143
7:30639648 GARS1 C>T	7	30639648	30639648	C	T	GARS1	c.410C>T	NM_002047.2	NP_002038.2:p.(Ala137Val)	NC_000007.13:g.30639648C>T	VUS	1 lab	ece2f32405
21:34029303 SYNJ1 C>T	21	34029303	34029303	C	T	SYNJ1	c.2696+10G>A	NM_203446.2	NP_982271.2:p.?	NC_000021.8:g.34029303C>T	(Likely) benign	1 lab	ece31cb15f
11:1251775 MUC5B C>T	11	1251775	1251775	C	T	MUC5B	c.1415C>T	NM_002458.2	NP_002449.2:p.(Thr472Met)	NC_000011.9:g.1251775C>T	VUS	1 lab	ece31ed002
22:44011706 EFCAB6 C>A	22	44011706	44011706	C	A	EFCAB6	c.2562G>T	NM_022785.3	NP_073622.2:p.(Lys854Asn)	NC_000022.10:g.44011706C>A	VUS	1 lab	ece895ad9e
11:118926028 HYOU1 C>G	11	118926028	118926028	C	G	HYOU1	c.288G>C	NM_006389.5	NP_006380.1:p.(Thr96=)	NC_000011.9:g.118926028C>G	(Likely) benign	1 lab	ece8b91ab5
X:106841087 FRMPD3 A>G	X	106841087	106841087	A	G	FRMPD3	c.2077A>G	NM_032428.2	NP_115804.1:p.(Thr693Ala)	NC_000023.10:g.106841087A>G	(Likely) benign	1 lab	ece8d3f80c
3:66457831 LRIG1 G>A	3	66457831	66457831	G	A	LRIG1	c.1020C>T	NM_015541.2	NP_056356.2:p.(His340=)	NC_000003.11:g.66457831G>A	(Likely) benign	1 lab	ecea1539c2
7:100663452 MUC17 G>C	7	100663452	100663452	G	C	MUC17	c.36G>C	NM_001040105.1	NP_001035194.1:p.(Leu12=)	NC_000007.13:g.100663452G>C	(Likely) benign	1 lab	eceba51d57
2:179480433 TTN C>T	2	179480433	179480433	C	T	TTN	c.48395G>A	NM_001267550.1	NP_001254479.1:p.(Arg16132His)	NC_000002.11:g.179480433C>T	(Likely) benign	1 lab	eced0e9373
1:179414320 AXDND1 A>G	1	179414320	179414320	A	G	AXDND1	c.1779A>G	NM_144696.5	NP_653297.3:p.(Ile593Met)	NC_000001.10:g.179414320A>G	(Likely) benign	1 lab	eced182531
14:74004390 ACOT1 C>T	14	74004390	74004390	C	T	ACOT1	c.265C>T	NM_001037161.2	NP_001032238.1:p.(Pro89Ser)	NC_000014.8:g.74004390C>T	(Likely) benign	1 lab	eced5d3ef4
X:108708527 GUCY2F G>A	X	108708527	108708527	G	A	GUCY2F	c.876C>T	NM_001522.2	NP_001513.2:p.(His292=)	NC_000023.10:g.108708527G>A	(Likely) benign	1 lab	ecedad3378
1:216074231 USH2A C>T	1	216074231	216074231	C	T	USH2A	c.7317G>A	NM_206933.2	NP_996816.2:p.(Leu2439=)	NC_000001.10:g.216074231C>T	(Likely) benign	1 lab	eceea060f1
15:65937980 SLC24A1 C>T	15	65937980	65937980	C	T	SLC24A1	c.2171C>T	NM_004727.2	NP_004718.1:p.(Thr724Met)	NC_000015.9:g.65937980C>T	VUS	1 lab	ecef3decaa
1:197070372 ASPM A>G	1	197070372	197070372	A	G	ASPM	c.8009T>C	NM_018136.4	NP_060606.3:p.(Ile2670Thr)	NC_000001.10:g.197070372A>G	VUS	1 lab	ecef478a67
20:42265804 IFT52 G>A	20	42265804	42265804	G	A	IFT52	c.503G>A	NM_001323578.1	NP_001310507.1:p.(Arg168Gln)	NC_000020.10:g.42265804G>A	VUS	1 lab	ecf033bfbd
17:34522746 CCL3L3 C>T	17	34522746	34522746	C	T	CCL3L3	c.221G>A	NM_001001437.3	NP_001001437.2:p.(Cys74Tyr)	NC_000017.10:g.34522746C>T	VUS	1 lab	ecf076cb1e
1:6511754 ESPN C>A	1	6511754	6511754	C	A	ESPN	c.2007C>A	NM_031475.3	NP_113663.2:p.(Pro669=)	NC_000001.10:g.6511754C>A	(Likely) benign	1 lab	ecf2abb4bb
22:50512705 MLC1 G>T	22	50512705	50512705	G	T	MLC1	c.654C>A	NM_015166.3	NP_055981.1:p.(Asn218Lys)	NC_000022.10:g.50512705G>T	VUS	1 lab	ecf3948884
9:80912187 PSAT1 G>GT	9	80912187	80912188	G	GT	PSAT1	c.60+2dup	NM_058179.3	NP_478059.1:p.?	NC_000009.11:g.80912188dup	(Likely) pathogenic	1 lab	ecf43c62a2
15:48762849 FBN1 T>C	15	48762849	48762849	T	C	FBN1	c.4441A>G	NM_000138.4	NP_000129.3:p.(Ser1481Gly)	NC_000015.9:g.48762849T>C	VUS	1 lab	ecf44f2173
19:43383727 PSG1 T>G	19	43383727	43383727	T	G	PSG1	c.7A>C	NM_006905.2	NP_008836.2:p.(Thr3Pro)	NC_000019.9:g.43383727T>G	(Likely) benign	1 lab	ecf512d616
X:9900593 SHROOM2 C>T	X	9900593	9900593	C	T	SHROOM2	c.3270C>T	NM_001649.3	NP_001640.1:p.(Leu1090=)	NC_000023.10:g.9900593C>T	(Likely) benign	1 lab	ecf7294bdb
X:153296829 MECP2 C>G	X	153296829	153296829	C	G	MECP2	c.450G>C	NM_004992.3	NP_004983.1:p.(Leu150=)	NC_000023.10:g.153296829C>G	(Likely) benign	1 lab	ecf72cf558
X:75393454 PBDC1 T>G	X	75393454	75393454	T	G	PBDC1	c.65T>G	NM_001300888.1	NP_001287817.1:p.(Leu22Arg)	NC_000023.10:g.75393454T>G	(Likely) benign	1 lab	ecfb0a0d64
X:73751456 SLC16A2 AT>A	X	73751456	73751461	AT	A	SLC16A2	c.*73del	NM_006517.5	NP_006508.2:p.?	NC_000023.10:g.73751461del	(Likely) pathogenic	1 lab	ecfdc24d0f
19:51883882 LIM2 C>T	19	51883882	51883882	C	T	LIM2	c.463G>A	NM_030657.3	NP_085915.2:p.(Val155Met)	NC_000019.9:g.51883882C>T	(Likely) benign	1 lab	ecff9c5966
3:194790725 XXYLT1 G>A	3	194790725	194790725	G	A	XXYLT1	c.901C>T	NM_152531.5	NP_689744.3:p.(Arg301Cys)	NC_000003.11:g.194790725G>A	VUS	1 lab	ed007b7517
4:187004961 TLR3 G>T	4	187004961	187004961	G	T	TLR3	c.2121G>T	NM_003265.2	NP_003256.1:p.(Met707Ile)	NC_000004.11:g.187004961G>T	(Likely) benign	1 lab	ed00f36a39
17:8159944 PFAS A>C	17	8159944	8159944	A	C	PFAS	c.924A>C	NM_012393.3	NP_036525.1:p.(Ala308=)	NC_000017.10:g.8159944A>C	(Likely) benign	1 lab	ed08b7e8ee
8:24771943 NEFM G>A	8	24771943	24771943	G	A	NEFM	c.637G>A	NM_005382.2	NP_005373.2:p.(Ala213Thr)	NC_000008.10:g.24771943G>A	(Likely) benign	1 lab	ed0a9afd94
10:73450277 CDH23 C>T	10	73450277	73450277	C	T	CDH23	c.2112C>T	NM_022124.5	NP_071407.4:p.(Tyr704=)	NC_000010.10:g.73450277C>T	(Likely) benign	1 lab	ed0a9dbaf9
17:29550473 NF1 T>C	17	29550473	29550473	T	C	NF1	c.1733T>C	NM_000267.3	NP_000258.1:p.(Leu578Pro)	NC_000017.10:g.29550473T>C	(Likely) pathogenic	1 lab	ed0bbfb50c
17:40766999 TUBG1 C>T	17	40766999	40766999	C	T	TUBG1	c.1296C>T	NM_001070.4	NP_001061.2:p.(Ile432=)	NC_000017.10:g.40766999C>T	(Likely) benign	1 lab	ed0d858944
20:50407221 SALL4 G>A	20	50407221	50407221	G	A	SALL4	c.1801C>T	NM_020436.3	NP_065169.1:p.(Arg601Ter)	NC_000020.10:g.50407221G>A	(Likely) pathogenic	1 lab	ed0eebe2cf
22:33828280 LARGE1 T>C	22	33828280	33828280	T	C	LARGE1	c.788-29A>G	NM_004737.5	NP_004728.1:p.?	NC_000022.10:g.33828280T>C	(Likely) benign	1 lab	ed0f2b450c
2:192206211 MYO1B A>G	2	192206211	192206211	A	G	MYO1B	c.371A>G	NM_001130158.3	NP_001123630.1:p.(Tyr124Cys)	NC_000002.11:g.192206211A>G	VUS	1 lab	ed11ad0bc6
2:1893091 MYT1L G>GC	2	1893091	1893094	G	GC	MYT1L	c.2435dup	NM_015025.3	NP_055840.2:p.(Asp813ArgfsTer97)	NC_000002.11:g.1893094dup	(Likely) pathogenic	1 lab	ed1253134d
2:241723193 KIF1A C>T	2	241723193	241723193	C	T	KIF1A	c.761G>A	NM_001244008.1	NP_001230937.1:p.(Arg254Gln)	NC_000002.11:g.241723193C>T	VUS	1 lab	ed13de92a6
18:20573434 RBBP8 T>C	18	20573434	20573434	T	C	RBBP8	c.1644T>C	NM_002894.2	NP_002885.1:p.(Asp548=)	NC_000018.9:g.20573434T>C	(Likely) benign	1 lab	ed1447d417
1:201182628 IGFN1 TG>T	1	201182628	201182630	TG	T	IGFN1	c.8609del	NM_001164586.2	NP_001158058.1:p.(Gly2870ValfsTer116)	NC_000001.10:g.201182630del	VUS	1 lab	ed148f1f84
16:2113069 TSC2 G>A	16	2113069	2113069	G	A	TSC2	c.1443+15G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2113069G>A	(Likely) benign	1 lab	ed16974815
10:73483829 CDH23 G>A	10	73483829	73483829	G	A	CDH23	c.3397G>A	NM_022124.5	NP_071407.4:p.(Glu1133Lys)	NC_000010.10:g.73483829G>A	VUS	1 lab	ed171607d9
5:131676250 SLC22A4 C>T	5	131676250	131676250	C	T	SLC22A4	c.1445-8C>T	NM_003059.3	NP_003050.2:p.?	NC_000005.9:g.131676250C>T	(Likely) benign	1 lab	ed182be051
16:70894651 HYDIN C>T	16	70894651	70894651	C	T	HYDIN	c.11931G>A	NM_001270974.2	NP_001257903.1:p.(Leu3977=)	NC_000016.9:g.70894651C>T	(Likely) benign	1 lab	ed187b481a
5:82815316 VCAN C>T	5	82815316	82815316	C	T	VCAN	c.1191C>T	NM_004385.4	NP_004376.2:p.(Pro397=)	NC_000005.9:g.82815316C>T	(Likely) benign	1 lab	ed18bf0fe1
16:5131021 ALG1 C>A	16	5131021	5131021	C	A	ALG1	c.1036C>A	NM_019109.4	NP_061982.3:p.(Pro346Thr)	NC_000016.9:g.5131021C>A	VUS	1 lab	ed18e4bfe2
16:2122231 TSC2 TCTC>T	16	2122231	2122237	TCTC	T	TSC2	c.2098-7_2098-5del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2122235_2122237del	VUS	1 lab	ed197339dd
X:47486968 CFP C>T	X	47486968	47486968	C	T	CFP	c.476G>A	NM_002621.2	NP_002612.1:p.(Arg159His)	NC_000023.10:g.47486968C>T	(Likely) benign	1 lab	ed1a2082f6
4:141483352 UCP1 G>C	4	141483352	141483352	G	C	UCP1	c.804C>G	NM_021833.4	NP_068605.1:p.(Phe268Leu)	NC_000004.11:g.141483352G>C	VUS	1 lab	ed1a8850f2
12:80888867 MISSING C>T	12	80888867	80888867	C	T	MISSING				NC_000012.11:g.80888867C>T	(Likely) pathogenic	1 lab	634020dd00
6:152686160 SYNE1 A>T	6	152686160	152686160	A	T	SYNE1	c.9973-6T>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152686160A>T	(Likely) benign	1 lab	ed1ab83a71
16:51175841 SALL1 T>C	16	51175841	51175841	T	C	SALL1	c.292A>G	NM_002968.2	NP_002959.2:p.(Met98Val)	NC_000016.9:g.51175841T>C	(Likely) benign	1 lab	ed1af71139
1:94576968 ABCA4 T>C	1	94576968	94576968	T	C	ABCA4	c.302+26A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94576968T>C	(Likely) benign	1 lab	ed1d64087a
16:2369821 ABCA3 G>T	16	2369821	2369821	G	T	ABCA3	c.634C>A	NM_001089.2	NP_001080.2:p.(Leu212Met)	NC_000016.9:g.2369821G>T	VUS	1 lab	ed1ee390e2
1:248790186 OR2T11 T>C	1	248790186	248790186	T	C	OR2T11	c.244A>G	NM_001001964.1	NP_001001964.1:p.(Met82Val)	NC_000001.10:g.248790186T>C	(Likely) benign	1 lab	ed1f2378e1
X:36379611 CFAP47 A>G	X	36379611	36379611	A	G	CFAP47	c.9018A>G	NM_001304548.1	NP_001291477.1:p.(Pro3006=)	NC_000023.10:g.36379611A>G	(Likely) benign	1 lab	ed22170d07
9:36966658 PAX5 T>G	9	36966658	36966658	T	G	PAX5	c.668A>C	NM_016734.2	NP_057953.1:p.(Gln223Pro)	NC_000009.11:g.36966658T>G	VUS	1 lab	ed22661a25
5:149412023 HMGXB3 G>T	5	149412023	149412023	G	T	HMGXB3	c.1840G>T	NM_014983.2	NP_055798.2:p.(Gly614Cys)	NC_000005.9:g.149412023G>T	VUS	1 lab	ed23fdbaee
X:9862755 SHROOM2 G>A	X	9862755	9862755	G	A	SHROOM2	c.807G>A	NM_001649.3	NP_001640.1:p.(Pro269=)	NC_000023.10:g.9862755G>A	(Likely) benign	1 lab	ed2466c73b
3:100948374 IMPG2 G>A	3	100948374	100948374	G	A	IMPG2	c.3483C>T	NM_016247.3	NP_057331.2:p.(Pro1161=)	NC_000003.11:g.100948374G>A	(Likely) benign	1 lab	ed2621459f
17:72997498 CDR2L G>T	17	72997498	72997498	G	T	CDR2L	c.255G>T	NM_014603.3	NP_055418.2:p.(Glu85Asp)	NC_000017.10:g.72997498G>T	VUS	1 lab	ed2a342ea7
7:5347941 TNRC18 G>A	7	5347941	5347941	G	A	TNRC18	c.8703C>T	NM_001080495.2	NP_001073964.2:p.(Arg2901=)	NC_000007.13:g.5347941G>A	(Likely) benign	1 lab	ed2a512161
16:21739565 OTOA G>A	16	21739565	21739565	G	A	OTOA	c.2020G>A	NM_144672.4	NP_653273.3:p.(Asp674Asn)	NC_000016.9:g.21739565G>A	(Likely) benign	1 lab	ed2bcea74a
X:39935702 BCOR C>T	X	39935702	39935702	C	T	BCOR	c.165+5G>A	NM_001123385.1	NP_001116857.1:p.?	NC_000023.10:g.39935702C>T	VUS	1 lab	ed3285b1e1
6:74348214 SLC17A5 TG>T	6	74348214	74348215	TG	T	SLC17A5	c.533del	NM_012434.5	NP_036566.1:p.(Thr178AsnfsTer34)	NC_000006.11:g.74348215del	(Likely) pathogenic	1 lab	ed32c40910
X:48932500 WDR45 C>T	X	48932500	48932500	C	T	WDR45	c.1048G>A	NM_007075.3	NP_009006.2:p.(Asp350Asn)	NC_000023.10:g.48932500C>T	(Likely) benign	1 lab	ed32d24dfb
17:29486112 NF1 G>T	17	29486112	29486112	G	T	NF1	c.288+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486112G>T	(Likely) pathogenic	1 lab	ed3436b155
11:1263234 MUC5B A>G	11	1263234	1263234	A	G	MUC5B	c.5124A>G	NM_002458.2	NP_002449.2:p.(Thr1708=)	NC_000011.9:g.1263234A>G	(Likely) benign	1 lab	ed34dc9777
20:54824156 MC3R T>C	20	54824156	54824156	T	C	MC3R	c.257T>C	NM_019888.3	NP_063941.3:p.(Leu86Pro)	NC_000020.10:g.54824156T>C	VUS	1 lab	ed358fcd5a
6:152748944 SYNE1 T>C	6	152748944	152748944	T	C	SYNE1	c.4984A>G	NM_182961.3	NP_892006.3:p.(Lys1662Glu)	NC_000006.11:g.152748944T>C	VUS	1 lab	ed35961833
9:40704814 SPATA31A3 A>G	9	40704814	40704814	A	G	SPATA31A3	c.2471A>G	NM_001083124.1	NP_001076593.1:p.(Gln824Arg)	NC_000009.11:g.40704814A>G	(Likely) benign	1 lab	ed35a50b03
16:56913491 SLC12A3 C>T	16	56913491	56913491	C	T	SLC12A3	c.1373C>T	NM_000339.2	NP_000330.2:p.(Thr458Met)	NC_000016.9:g.56913491C>T	VUS	1 lab	ed35c93850
1:7151384 CAMTA1 A>G	1	7151384	7151384	A	G	CAMTA1	c.255A>G	NM_015215.3	NP_056030.1:p.(Ile85Met)	NC_000001.10:g.7151384A>G	VUS	1 lab	f18b78e7de
X:108708469 GUCY2F A>G	X	108708469	108708469	A	G	GUCY2F	c.934T>C	NM_001522.2	NP_001513.2:p.(Leu312=)	NC_000023.10:g.108708469A>G	(Likely) benign	1 lab	ed35fcf592
19:55450959 NLRP7 C>A	19	55450959	55450959	C	A	NLRP7	c.1228G>T	NM_001127255.1	NP_001120727.1:p.(Gly410Cys)	NC_000019.9:g.55450959C>A	VUS	1 lab	ed36ef173a
1:203014648 PPFIA4 G>A	1	203014648	203014648	G	A	PPFIA4	c.819G>A	NM_001304331.1	NP_001291260.1:p.(Ser273=)	NC_000001.10:g.203014648G>A	(Likely) benign	1 lab	ed3a057eb2
14:105179581 INF2 A>AGAGGAGGAAGCAGCAGCTGGCG	14	105179581	105179611	A	AGAGGAGGAAGCAGCAGCTGGCG	INF2	c.2822_2843dup	NM_022489.3	NP_071934.3:p.(Arg950AlafsTer37)	NC_000014.8:g.105179590_105179611dup	(Likely) pathogenic	1 lab	ed3adbf138
17:80009515 RFNG GGGGCCGGGGCGGGGGTCC>G	17	80009515	80009546	GGGGCCGGGGCGGGGGTCC	G	RFNG	c.110_127del	NM_002917.2	NP_002908.1:p.(Arg37_Ala42del)	NC_000017.10:g.80009529_80009546del	VUS	1 lab	ed3b50e8d2
1:9322320 H6PD C>G	1	9322320	9322320	C	G	H6PD	c.948C>G	NM_004285.3	NP_004276.2:p.(Tyr316Ter)	NC_000001.10:g.9322320C>G	(Likely) pathogenic	1 lab	ed3b7c751b
3:170244697 SLC7A14 G>C	3	170244697	170244697	G	C	SLC7A14	c.29C>G	NM_020949.2	NP_066000.2:p.(Pro10Arg)	NC_000003.11:g.170244697G>C	VUS	1 lab	ed3be7bf61
X:100169539 XKRX G>T	X	100169539	100169539	G	T	XKRX	c.1138C>A	NM_212559.2	NP_997724.2:p.(His380Asn)	NC_000023.10:g.100169539G>T	(Likely) benign	1 lab	ed3c4d5521
2:1652804 PXDN G>A	2	1652804	1652804	G	A	PXDN	c.2748C>T	NM_012293.2	NP_036425.1:p.(Tyr916=)	NC_000002.11:g.1652804G>A	(Likely) benign	1 lab	ed3e9e3bb0
6:131997885 ENPP3 A>G	6	131997885	131997885	A	G	ENPP3	c.882A>G	NM_005021.4	NP_005012.2:p.(Pro294=)	NC_000006.11:g.131997885A>G	(Likely) benign	1 lab	ed3fb3764f
1:38006163 SNIP1 G>A	1	38006163	38006163	G	A	SNIP1	c.521C>T	NM_024700.3	NP_078976.2:p.(Ala174Val)	NC_000001.10:g.38006163G>A	(Likely) benign	1 lab	ed40547545
12:110570442 IFT81 G>A	12	110570442	110570442	G	A	IFT81	c.519+1G>A	NM_014055.3	NP_054774.2:p.?	NC_000012.11:g.110570442G>A	(Likely) pathogenic	1 lab	ed4209b10b
8:16859332 FGF20 A>G	8	16859332	16859332	A	G	FGF20	c.210T>C	NM_019851.2	NP_062825.1:p.(Tyr70=)	NC_000008.10:g.16859332A>G	(Likely) benign	1 lab	ed422276c0
2:204735429 CTLA4 CTG>C	2	204735429	204735431	CTG	C	CTLA4	c.231_232del	NM_005214.5	NP_005205.2:p.(Asp78GlnfsTer5)	NC_000002.11:g.204735430_204735431del	VUS	1 lab	ed43e0d1a8
17:19247049 B9D1 C>T	17	19247049	19247049	C	T	B9D1	c.526G>A	NM_001321215.1	NP_001308144.1:p.(Glu176Lys)	NC_000017.10:g.19247049C>T	VUS	1 lab	ed4408da32
1:43908158 SZT2 T>C	1	43908158	43908158	T	C	SZT2	c.7849T>C	NM_015284.3	NP_056099.3:p.(Leu2617=)	NC_000001.10:g.43908158T>C	(Likely) benign	1 lab	ed46eaa0bd
17:42084997 NAGS TG>T	17	42084997	42085003	TG	T	NAGS	c.1313del	NM_153006.3	NP_694551.1:p.(Gly438AlafsTer10)	NC_000017.10:g.42085003del	(Likely) pathogenic	1 lab	ed48181630
2:16080800 MYCN G>C	2	16080800	16080800	G	C	MYCN	c.92G>C	NM_001293233.1	NP_001280162.1:p.(Arg31Pro)	NC_000002.11:g.16080800G>C	VUS	1 lab	ed4b626e08
X:152981084 BCAP31 T>C	X	152981084	152981084	T	C	BCAP31	c.455A>G	NM_001139457.2	NP_001132929.1:p.(Asn152Ser)	NC_000023.10:g.152981084T>C	VUS	1 lab	ed4b9451a0
16:72143382 DHX38 C>T	16	72143382	72143382	C	T	DHX38	c.3450C>T	NM_014003.3	NP_054722.2:p.(Ser1150=)	NC_000016.9:g.72143382C>T	(Likely) benign	1 lab	ed4bb399f4
8:68107785 CSPP1 C>G	8	68107785	68107785	C	G	CSPP1	c.2588C>G	NM_001291339.1	NP_001278268.1:p.(Pro863Arg)	NC_000008.10:g.68107785C>G	VUS	1 lab	ed4bfbdffa
1:20827260 MUL1 G>A	1	20827260	20827260	G	A	MUL1	c.982C>T	NM_024544.3	NP_078820.2:p.(Arg328Cys)	NC_000001.10:g.20827260G>A	VUS	1 lab	ed5194142c
4:649785 PDE6B A>C	4	649785	649785	A	C	PDE6B	c.1049A>C	NM_000283.3	NP_000274.2:p.(Glu350Ala)	NC_000004.11:g.649785A>C	VUS	1 lab	edbb130781
1:11188164 MTOR G>A	1	11188164	11188164	G	A	MTOR	c.5930C>T	NM_004958.3	NP_004949.1:p.(Thr1977Ile)	NC_000001.10:g.11188164G>A	VUS	1 lab	ed59cc7877
12:21728856 GYS2 G>C	12	21728856	21728856	G	C	GYS2	c.439C>G	NM_021957.4	NP_068776.2:p.(Arg147Gly)	NC_000012.11:g.21728856G>C	VUS	1 lab	ed5a3b9ced
15:85345282 ZNF592 A>G	15	85345282	85345282	A	G	ZNF592	c.3462A>G	NM_014630.2	NP_055445.2:p.(Gln1154=)	NC_000015.9:g.85345282A>G	(Likely) benign	1 lab	ed5a7258cf
X:102885190 TCEAL1 G>A	X	102885190	102885190	G	A	TCEAL1	c.346G>A	NM_001006640.1	NP_001006641.1:p.(Asp116Asn)	NC_000023.10:g.102885190G>A	VUS	1 lab	ed5c026ec1
1:216172268 USH2A T>C	1	216172268	216172268	T	C	USH2A	c.6618A>G	NM_206933.2	NP_996816.2:p.(Gln2206=)	NC_000001.10:g.216172268T>C	(Likely) benign	1 lab	ed5cd490bd
11:3720513 NUP98 C>T	11	3720513	3720513	C	T	NUP98	c.3808G>A	NM_016320.5	NP_057404.2:p.(Asp1270Asn)	NC_000011.9:g.3720513C>T	VUS	1 lab	ed5d18120f
8:62566179 ASPH T>C	8	62566179	62566179	T	C	ASPH	c.363A>G	NM_004318.3	NP_004309.2:p.(Pro121=)	NC_000008.10:g.62566179T>C	(Likely) benign	1 lab	ed5d99542b
7:141315345 AGK C>T	7	141315345	141315345	C	T	AGK	c.498C>T	NM_018238.4	NP_060708.1:p.(Ala166=)	NC_000007.13:g.141315345C>T	(Likely) benign	1 lab	ed5f939f9a
4:123663098 BBS12 A>G	4	123663098	123663098	A	G	BBS12	c.51A>G	NM_001178007.1	NP_001171478.1:p.(Gln17=)	NC_000004.11:g.123663098A>G	(Likely) benign	1 lab	ed5fc5af52
11:640044 DRD4 C>T	11	640044	640044	C	T	DRD4	c.795C>T	NM_000797.3	NP_000788.2:p.(Pro265=)	NC_000011.9:g.640044C>T	(Likely) benign	1 lab	ed60172b6b
5:13920711 DNAH5 A>G	5	13920711	13920711	A	G	DNAH5	c.676T>C	NM_001369.2	NP_001360.1:p.(Cys226Arg)	NC_000005.9:g.13920711A>G	VUS	1 lab	ed602c0ddf
19:10247882 DNMT1 G>A	19	10247882	10247882	G	A	DNMT1	c.4368C>T	NM_001130823.1	NP_001124295.1:p.(Pro1456=)	NC_000019.9:g.10247882G>A	(Likely) benign	1 lab	ed6067ae3f
12:105534089 WASHC4 C>T	12	105534089	105534089	C	T	WASHC4	c.1473C>T	NM_001293640.1	NP_001280569.1:p.(Phe491=)	NC_000012.11:g.105534089C>T	(Likely) benign	1 lab	ed6102e11b
19:44832737 ZNF112 C>T	19	44832737	44832737	C	T	ZNF112	c.1591G>A	NM_001083335.1	NP_001076804.1:p.(Gly531Ser)	NC_000019.9:g.44832737C>T	VUS	1 lab	ed63731302
22:50962265 SCO2 G>A	22	50962265	50962265	G	A	SCO2	c.576C>T	NM_001169109.1	NP_001162580.1:p.(Thr192=)	NC_000022.10:g.50962265G>A	(Likely) benign	1 lab	ed63af8875
3:132384718 UBA5 A>C	3	132384718	132384718	A	C	UBA5	c.207+6A>C	NM_024818.4	NP_079094.1:p.?	NC_000003.11:g.132384718A>C	(Likely) benign	1 lab	ed63cc215d
18:42532564 SETBP1 A>G	18	42532564	42532564	A	G	SETBP1	c.3259A>G	NM_015559.3	NP_056374.2:p.(Arg1087Gly)	NC_000018.9:g.42532564A>G	VUS	1 lab	ed6572fb34
15:23889735 MAGEL2 C>T	15	23889735	23889735	C	T	MAGEL2	c.3155G>A	NM_019066.4	NP_061939.3:p.(Arg1052Gln)	NC_000015.9:g.23889735C>T	VUS	1 lab	ed67500e2b
4:107168394 TBCK G>A	4	107168394	107168394	G	A	TBCK	c.317C>T	NM_001290768.1	NP_001277697.1:p.(Pro106Leu)	NC_000004.11:g.107168394G>A	(Likely) benign	1 lab	ed68b81262
16:30081323 ALDOA G>A	16	30081323	30081323	G	A	ALDOA	c.1134G>A	NM_001243177.1	NP_001230106.1:p.(Ala378=)	NC_000016.9:g.30081323G>A	(Likely) benign	1 lab	ed68c058f2
11:134023239 NCAPD3 C>T	11	134023239	134023239	C	T	NCAPD3	c.4272G>A	NM_015261.2	NP_056076.1:p.(Thr1424=)	NC_000011.9:g.134023239C>T	(Likely) benign	1 lab	ed6b8729a9
17:12647613 MYOCD G>A	17	12647613	12647613	G	A	MYOCD	c.831G>A	NM_001146312.2	NP_001139784.1:p.(Lys277=)	NC_000017.10:g.12647613G>A	(Likely) benign	1 lab	ed6d70a5db
16:88501473 ZNF469 G>T	16	88501473	88501473	G	T	ZNF469				NC_000016.9:g.88501473G>T	VUS	1 lab	ed6e189b5e
1:172411738 C1orf105 TG>T	1	172411738	172411739	TG	T	C1orf105	c.22-2474del	NM_139240.4	NP_640333.3:p.?	NC_000001.10:g.172411739del	VUS	1 lab	ed6e1ea969
9:125752414 RABGAP1 C>T	9	125752414	125752414	C	T	RABGAP1	c.845C>T	NM_012197.4	NP_036329.3:p.(Pro282Leu)	NC_000009.11:g.125752414C>T	VUS	1 lab	ed6e7bd909
18:19429173 MIB1 C>T	18	19429173	19429173	C	T	MIB1	c.2410C>T	NM_020774.3	NP_065825.1:p.(Arg804Trp)	NC_000018.9:g.19429173C>T	VUS	1 lab	ed700d3655
9:5081750 JAK2 C>T	9	5081750	5081750	C	T	JAK2	c.2460C>T	NM_001322194.1	NP_001309123.1:p.(Asp820=)	NC_000009.11:g.5081750C>T	(Likely) benign	1 lab	ed73d5ecd9
1:153661661 NPR1 T>G	1	153661661	153661661	T	G	NPR1	c.2565-3T>G	NM_000906.4	NP_000897.3:p.?	NC_000001.10:g.153661661T>G	VUS	1 lab	ed75e91519
14:105416705 AHNAK2 G>A	14	105416705	105416705	G	A	AHNAK2	c.5083C>T	NM_138420.3	NP_612429.2:p.(Pro1695Ser)	NC_000014.8:g.105416705G>A	(Likely) benign	1 lab	ed7631cb3c
7:100678829 MUC17 C>T	7	100678829	100678829	C	T	MUC17	c.4132C>T	NM_001040105.1	NP_001035194.1:p.(Pro1378Ser)	NC_000007.13:g.100678829C>T	(Likely) benign	1 lab	ed76581b43
2:179472416 TTN T>C	2	179472416	179472416	T	C	TTN	c.53003-4A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179472416T>C	(Likely) benign	1 lab	ed77abc0e9
16:88494062 ZNF469 G>A	16	88494062	88494062	G	A	ZNF469				NC_000016.9:g.88494062G>A	(Likely) benign	1 lab	ed79f2bc82
20:32341160 ZNF341 T>C	20	32341160	32341160	T	C	ZNF341	c.672T>C	NM_001282933.1	NP_001269862.1:p.(Ala224=)	NC_000020.10:g.32341160T>C	(Likely) benign	1 lab	ed7be23391
6:129759849 LAMA2 T>G	6	129759849	129759849	T	G	LAMA2	c.6027T>G	NM_000426.3	NP_000417.2:p.(Asn2009Lys)	NC_000006.11:g.129759849T>G	(Likely) benign	1 lab	ed7bf63d07
16:2130259 TSC2 C>T	16	2130259	2130259	C	T	TSC2	c.3491C>T	NM_000548.3	NP_000539.2:p.(Ala1164Val)	NC_000016.9:g.2130259C>T	(Likely) benign	1 lab	ed7c3fb67f
1:228437792 OBSCN G>A	1	228437792	228437792	G	A	OBSCN	c.4436G>A	NM_001271223.2	NP_001258152.2:p.(Gly1479Glu)	NC_000001.10:g.228437792G>A	VUS	1 lab	ed7d055fde
5:1264701 TERT C>A	5	1264701	1264701	C	A	TERT	c.2661G>T	NM_198253.2	NP_937983.2:p.(Leu887=)	NC_000005.9:g.1264701C>A	(Likely) benign	1 lab	ed7fa14216
7:103214570 RELN G>A	7	103214570	103214570	G	A	RELN	c.4480C>T	NM_005045.3	NP_005036.2:p.(Arg1494Trp)	NC_000007.13:g.103214570G>A	VUS	1 lab	ed80d8b9ef
X:79932225 BRWD3 A>T	X	79932225	79932225	A	T	BRWD3	c.5292T>A	NM_153252.4	NP_694984.4:p.(Asp1764Glu)	NC_000023.10:g.79932225A>T	(Likely) benign	1 lab	ed80f3cf6c
9:2645557 VLDLR A>T	9	2645557	2645557	A	T	VLDLR	c.1313-17A>T	NM_003383.4	NP_003374.3:p.?	NC_000009.11:g.2645557A>T	(Likely) benign	1 lab	ed8171dd87
4:103595149 MANBA C>T	4	103595149	103595149	C	T	MANBA	c.1039G>A	NM_005908.3	NP_005899.3:p.(Gly347Arg)	NC_000004.11:g.103595149C>T	VUS	1 lab	ed829e0480
X:32662406 DMD G>A	X	32662406	32662406	G	A	DMD	c.805C>T	NM_004010.3	NP_004001.1:p.(His269Tyr)	NC_000023.10:g.32662406G>A	VUS	1 lab	ed82f13cdc
X:135593711 HTATSF1 G>A	X	135593711	135593711	G	A	HTATSF1	c.1807G>A	NM_001163280.1	NP_001156752.1:p.(Glu603Lys)	NC_000023.10:g.135593711G>A	(Likely) benign	1 lab	ed849f4000
11:1276307 MUC5B A>G	11	1276307	1276307	A	G	MUC5B	c.15701A>G	NM_002458.2	NP_002449.2:p.(Gln5234Arg)	NC_000011.9:g.1276307A>G	(Likely) benign	1 lab	ed87191bb2
19:41916909 BCKDHA C>T	19	41916909	41916909	C	T	BCKDHA	c.370C>T	NM_000709.3	NP_000700.1:p.(Arg124Trp)	NC_000019.9:g.41916909C>T	VUS	1 lab	ed8973a04e
X:13785405 OFD1 T>TA	X	13785405	13785407	T	TA	OFD1	c.2337+4dup	NM_001330210.1	NP_001317139.1:p.?	NC_000023.10:g.13785407dup	(Likely) benign	1 lab	ed8b648c1d
13:101910844 NALCN A>C	13	101910844	101910844	A	C	NALCN	c.1216T>G	NM_052867.3	NP_443099.1:p.(Tyr406Asp)	NC_000013.10:g.101910844A>C	(Likely) benign	1 lab	ed8d48f1c5
3:49162321 LAMB2 C>G	3	49162321	49162321	C	G	LAMB2	c.2922G>C	NM_002292.3	NP_002283.3:p.(Gly974=)	NC_000003.11:g.49162321C>G	(Likely) benign	1 lab	ed8f81ab40
16:2138550 TSC2 A>T	16	2138550	2138550	A	T	TSC2	c.5363A>T	NM_000548.3	NP_000539.2:p.(Tyr1788Phe)	NC_000016.9:g.2138550A>T	(Likely) benign	1 lab	ed902928e5
1:160276954 COPA G>A	1	160276954	160276954	G	A	COPA	c.1301C>T	NM_001098398.2	NP_001091868.1:p.(Ser434Leu)	NC_000001.10:g.160276954G>A	VUS	1 lab	ed90547756
7:31876831 PDE1C C>T	7	31876831	31876831	C	T	PDE1C	c.1346G>A	NM_001322058.1	NP_001308987.1:p.(Arg449His)	NC_000007.13:g.31876831C>T	VUS	1 lab	ed90f66d4f
12:105546171 WASHC4 A>C	12	105546171	105546171	A	C	WASHC4	c.2703A>C	NM_001293640.1	NP_001280569.1:p.(Gly901=)	NC_000012.11:g.105546171A>C	(Likely) benign	1 lab	ed919d8877
1:47748129 STIL G>A	1	47748129	47748129	G	A	STIL	c.1136C>T	NM_001048166.1	NP_001041631.1:p.(Ser379Phe)	NC_000001.10:g.47748129G>A	(Likely) benign	1 lab	ed91fdde4d
10:75842291 VCL G>A	10	75842291	75842291	G	A	VCL	c.863G>A	NM_014000.2	NP_054706.1:p.(Ser288Asn)	NC_000010.10:g.75842291G>A	(Likely) benign	1 lab	ed92cc13a0
X:69699112 DLG3 C>G	X	69699112	69699112	C	G	DLG3	c.1518C>G	NM_021120.3	NP_066943.2:p.(Val506=)	NC_000023.10:g.69699112C>G	(Likely) benign	1 lab	ed93889d7a
2:47288094 TTC7A G>A	2	47288094	47288094	G	A	TTC7A	c.2411G>A	NM_001288951.1	NP_001275880.1:p.(Arg804His)	NC_000002.11:g.47288094G>A	(Likely) benign	1 lab	ed93c5a1fd
2:179474787 TTN T>C	2	179474787	179474787	T	C	TTN	c.51436+30A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179474787T>C	(Likely) benign	1 lab	ed94b7c308
7:128493593 FLNC C>T	7	128493593	128493593	C	T	FLNC	c.6279C>T	NM_001458.4	NP_001449.3:p.(Asp2093=)	NC_000007.13:g.128493593C>T	(Likely) benign	1 lab	ed9b0f8d37
1:3410999 MEGF6 C>T	1	3410999	3410999	C	T	MEGF6	c.4065G>A	NM_001409.4	NP_001400.3:p.(Thr1355=)	NC_000001.10:g.3410999C>T	VUS	1 lab	ed9ca43b30
10:101667744 DNMBP G>A	10	101667744	101667744	G	A	DNMBP	c.2554+8C>T	NM_015221.4	NP_056036.1:p.?	NC_000010.10:g.101667744G>A	(Likely) benign	1 lab	ed9d244974
15:49088331 CEP152 C>T	15	49088331	49088331	C	T	CEP152	c.567G>A	NM_001194998.1	NP_001181927.1:p.(Pro189=)	NC_000015.9:g.49088331C>T	(Likely) benign	1 lab	ed9dd88711
5:35876279 IL7R T>C	5	35876279	35876279	T	C	IL7R				NC_000005.9:g.35876279T>C	(Likely) benign	1 lab	f1dd66e225
17:79504090 FSCN2 C>T	17	79504090	79504090	C	T	FSCN2	c.1535C>T	NM_001077182.2	NP_001070650.1:p.(Ala512Val)	NC_000017.10:g.79504090C>T	(Likely) benign	1 lab	ed9e157ff9
1:3751522 CEP104 G>A	1	3751522	3751522	G	A	CEP104	c.1452C>T	NM_014704.3	NP_055519.1:p.(Leu484=)	NC_000001.10:g.3751522G>A	(Likely) benign	1 lab	eda0285956
2:170042065 LRP2 T>A	2	170042065	170042065	T	A	LRP2	c.9793A>T	NM_004525.3	NP_004516.2:p.(Ile3265Leu)	NC_000002.11:g.170042065T>A	VUS	1 lab	eda405dfca
16:86601437 FOXC2 C>T	16	86601437	86601437	C	T	FOXC2	c.496C>T	NM_005251.3	NP_005242.1:p.(Arg166Trp)	NC_000016.9:g.86601437C>T	VUS	1 lab	eda5284f3f
3:9489439 SETD5 C>T	3	9489439	9489439	C	T	SETD5	c.1558C>T	NM_001349451.1	NP_001336380.1:p.(Arg520Ter)	NC_000003.11:g.9489439C>T	(Likely) pathogenic	1 lab	eda6aad21a
5:70805864 BDP1 A>G	5	70805864	70805864	A	G	BDP1	c.2945A>G	NM_018429.2	NP_060899.2:p.(Lys982Arg)	NC_000005.9:g.70805864A>G	VUS	1 lab	eda772120f
16:28913694 ATP2A1 C>A	16	28913694	28913694	C	A	ATP2A1	c.2511C>A	NM_004320.4	NP_004311.1:p.(Tyr837Ter)	NC_000016.9:g.28913694C>A	(Likely) pathogenic	1 lab	eda7f5a5f8
16:2122367 TSC2 A>C	16	2122367	2122367	A	C	TSC2	c.2220+3A>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2122367A>C	VUS	1 lab	edab35ca02
X:75004044 MAGEE2 C>A	X	75004044	75004044	C	A	MAGEE2	c.843G>T	NM_138703.4	NP_619648.1:p.(Trp281Cys)	NC_000023.10:g.75004044C>A	(Likely) benign	1 lab	edac34c5a0
16:16138428 ABCC1 C>T	16	16138428	16138428	C	T	ABCC1	c.931C>T	NM_004996.3	NP_004987.2:p.(Pro311Ser)	NC_000016.9:g.16138428C>T	VUS	1 lab	edac44fa40
8:97157615 GDF6 C>G	8	97157615	97157615	C	G	GDF6	c.544G>C	NM_001001557.3	NP_001001557.1:p.(Gly182Arg)	NC_000008.10:g.97157615C>G	VUS	1 lab	edacb4c0b7
2:179446917 TTN T>C	2	179446917	179446917	T	C	TTN	c.66179A>G	NM_001267550.1	NP_001254479.1:p.(Asp22060Gly)	NC_000002.11:g.179446917T>C	VUS	1 lab	edad0f1b5a
X:73960932 NEXMIF G>T	X	73960932	73960932	G	T	NEXMIF	c.3460C>A	NM_001008537.2	NP_001008537.1:p.(Pro1154Thr)	NC_000023.10:g.73960932G>T	VUS	1 lab	edae91748f
17:33501364 UNC45B A>G	17	33501364	33501364	A	G	UNC45B				NC_000017.10:g.33501364A>G	VUS	1 lab	6688d7100e
11:67811688 TCIRG1 G>T	11	67811688	67811688	G	T	TCIRG1	c.3G>T	NM_001351059.1	NP_001337988.1:p.(Met1?)	NC_000011.9:g.67811688G>T	VUS	1 lab	edae9939a9
11:121492985 SORL1 C>T	11	121492985	121492985	C	T	SORL1	c.6171+8C>T	NM_003105.5	NP_003096.1:p.?	NC_000011.9:g.121492985C>T	(Likely) benign	1 lab	edb2f77d20
1:215848633 USH2A G>T	1	215848633	215848633	G	T	USH2A	c.12620C>A	NM_206933.2	NP_996816.2:p.(Ala4207Asp)	NC_000001.10:g.215848633G>T	VUS	1 lab	edb530a18b
17:29576110 NF1 T>C	17	29576110	29576110	T	C	NF1	c.4083T>C	NM_000267.3	NP_000258.1:p.(Leu1361=)	NC_000017.10:g.29576110T>C	(Likely) benign	1 lab	edb6b974c6
17:29550472 NF1 CT>C	17	29550472	29550478	CT	C	NF1	c.1738del	NM_001042492.3	NP_001035957.1:p.(Tyr580ThrfsTer6)	NC_000017.10:g.29550478del	(Likely) pathogenic	1 lab	edb794f511
22:37622785 RAC2 G>A	22	37622785	37622785	G	A	RAC2	c.507C>T	NM_002872.3	NP_002863.1:p.(Phe169=)	NC_000022.10:g.37622785G>A	(Likely) benign	1 lab	edb7f0f850
21:46929331 COL18A1 C>G	21	46929331	46929331	C	G	COL18A1	c.3302C>G	NM_130445.2	NP_569712.2:p.(Pro1101Arg)	NC_000021.8:g.46929331C>G	VUS	1 lab	edb9adfa08
9:2073286 SMARCA2 C>T	9	2073286	2073286	C	T	SMARCA2	c.1821C>T	NM_003070.4	NP_003061.3:p.(Phe607=)	NC_000009.11:g.2073286C>T	(Likely) benign	1 lab	edb9b423a7
11:17663692 OTOG G>A	11	17663692	17663692	G	A	OTOG	c.8350G>A	NM_001277269.1	NP_001264198.1:p.(Ala2784Thr)	NC_000011.9:g.17663692G>A	(Likely) benign	1 lab	edbdc4ed8b
17:16332207 TRPV2 G>T	17	16332207	16332207	G	T	TRPV2	c.1498G>T	NM_016113.5	NP_057197.2:p.(Val500Leu)	NC_000017.10:g.16332207G>T	VUS	1 lab	edbec0a937
1:185880873 HMCN1 G>A	1	185880873	185880873	G	A	HMCN1	c.861G>A	NM_031935.2	NP_114141.2:p.(Val287=)	NC_000001.10:g.185880873G>A	(Likely) benign	1 lab	edc0431d22
18:34191950 FHOD3 C>T	18	34191950	34191950	C	T	FHOD3	c.849C>T	NM_001281740.2	NP_001268669.1:p.(Tyr283=)	NC_000018.9:g.34191950C>T	(Likely) benign	1 lab	edc063507c
9:133911694 LAMC3 C>T	9	133911694	133911694	C	T	LAMC3	c.951C>T	NM_006059.3	NP_006050.3:p.(Thr317=)	NC_000009.11:g.133911694C>T	(Likely) benign	1 lab	edc0ceb705
16:2129599 TSC2 CGGCCAAGCTGG>C	16	2129599	2129610	CGGCCAAGCTGG	C	TSC2	c.3327_3337del	NM_000548.5	NP_000539.2:p.(Ala1110ValfsTer54)	NC_000016.9:g.2129600_2129610del	(Likely) pathogenic	1 lab	edc350c8ef
X:66766524 AR G>A	X	66766524	66766524	G	A	AR	c.1536G>A	NM_000044.4	NP_000035.2:p.(Val512=)	NC_000023.10:g.66766524G>A	(Likely) benign	1 lab	edc4f14ee5
4:185599491 PRIMPOL C>G	4	185599491	185599491	C	G	PRIMPOL	c.950C>G	NM_152683.3	NP_689896.1:p.(Ser317Ter)	NC_000004.11:g.185599491C>G	(Likely) pathogenic	1 lab	edc5d6cae6
1:157772365 FCRL1 C>A	1	157772365	157772365	C	A	FCRL1	c.409G>T	NM_052938.5	NP_443170.1:p.(Ala137Ser)	NC_000001.10:g.157772365C>A	(Likely) benign	1 lab	edc69be70c
11:126294510 KIRREL3 G>A	11	126294510	126294510	G	A	KIRREL3	c.2302C>T	NM_032531.3	NP_115920.1:p.(Arg768Ter)	NC_000011.9:g.126294510G>A	VUS	1 lab	edc6c36249
X:153060136 SSR4 A>AGAGGCGATG	X	153060136	153060146	A	AGAGGCGATG	SSR4	c.20_28dup	NM_001204527.1	NP_001191456.1:p.(Glu7_Met9dup)	NC_000023.10:g.153060138_153060146dup	VUS	1 lab	edc7b7a750
8:38947562 ADAM9 C>A	8	38947562	38947562	C	A	ADAM9	c.2069-4C>A	NM_003816.2	NP_003807.1:p.?	NC_000008.10:g.38947562C>A	(Likely) benign	1 lab	edc9e57619
12:69965921 FRS2 T>A	12	69965921	69965921	T	A	FRS2	c.436T>A	NM_001278351.1	NP_001265280.1:p.(Leu146Ile)	NC_000012.11:g.69965921T>A	VUS	1 lab	edc9f5a9d5
4:183714642 TENM3 C>T	4	183714642	183714642	C	T	TENM3	c.6817C>T	NM_001080477.3	NP_001073946.1:p.(Leu2273=)	NC_000004.11:g.183714642C>T	(Likely) benign	1 lab	edca0b7141
1:156214675 PAQR6 C>T	1	156214675	156214675	C	T	PAQR6	c.319G>A	NM_024897.3	NP_079173.2:p.(Gly107Ser)	NC_000001.10:g.156214675C>T	(Likely) benign	1 lab	edcaa1aa74
15:62306160 VPS13C A>G	15	62306160	62306160	A	G	VPS13C	c.716T>C	NM_001018088.2	NP_001018098.1:p.(Leu239Ser)	NC_000015.9:g.62306160A>G	VUS	1 lab	edccf5c5b5
10:102783263 PDZD7 G>A	10	102783263	102783263	G	A	PDZD7	c.472C>T	NM_001195263.1	NP_001182192.1:p.(Arg158Cys)	NC_000010.10:g.102783263G>A	(Likely) benign	1 lab	edcd8bdcd8
2:169873278 ABCB11 A>C	2	169873278	169873278	A	C	ABCB11	c.98+10T>G	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169873278A>C	(Likely) benign	1 lab	edce5a6179
8:133918966 TG A>C	8	133918966	133918966	A	C	TG	c.3668A>C	NM_003235.4	NP_003226.4:p.(Glu1223Ala)	NC_000008.10:g.133918966A>C	(Likely) benign	1 lab	edd0c2c7c8
17:11659998 DNAH9 G>A	17	11659998	11659998	G	A	DNAH9	c.6847+5G>A	NM_001372.3	NP_001363.2:p.?	NC_000017.10:g.11659998G>A	VUS	1 lab	edd1918727
10:112570226 RBM20 G>GC	10	112570226	112570230	G	GC	RBM20	c.1880+10dup	NM_001134363.1	NP_001127835.1:p.?	NC_000010.10:g.112570230dup	(Likely) benign	1 lab	edd1ab5397
11:17660092 OTOG C>T	11	17660092	17660092	C	T	OTOG	c.7926C>T	NM_001277269.1	NP_001264198.1:p.(Ser2642=)	NC_000011.9:g.17660092C>T	(Likely) benign	1 lab	edd1dbf6ef
14:105416328 AHNAK2 G>A	14	105416328	105416328	G	A	AHNAK2	c.5460C>T	NM_138420.3	NP_612429.2:p.(Asp1820=)	NC_000014.8:g.105416328G>A	(Likely) benign	1 lab	edd1f735c0
8:94772105 TMEM67 G>A	8	94772105	94772105	G	A	TMEM67	c.47G>A	NM_001142301.1	NP_001135773.1:p.(Arg16Gln)	NC_000008.10:g.94772105G>A	(Likely) benign	1 lab	edd5e2d8ac
19:35793438 MAG C>T	19	35793438	35793438	C	T	MAG	c.1058C>T	NM_080600.2	NP_542167.1:p.(Pro353Leu)	NC_000019.9:g.35793438C>T	VUS	1 lab	edd67708dd
1:152283655 FLG C>T	1	152283655	152283655	C	T	FLG	c.3707G>A	NM_002016.1	NP_002007.1:p.(Arg1236His)	NC_000001.10:g.152283655C>T	(Likely) benign	1 lab	edd6b82509
17:29652936 NF1 T>C	17	29652936	29652936	T	C	NF1	c.4871T>C	NM_000267.3	NP_000258.1:p.(Leu1624Pro)	NC_000017.10:g.29652936T>C	VUS	1 lab	edd70bb5cb
16:70883750 HYDIN A>G	16	70883750	70883750	A	G	HYDIN	c.12752T>C	NM_001270974.2	NP_001257903.1:p.(Leu4251Pro)	NC_000016.9:g.70883750A>G	(Likely) benign	1 lab	edd7634c4f
19:10434186 RAVER1 C>T	19	10434186	10434186	C	T	RAVER1	c.813G>A	NM_133452.3	NP_597709.3:p.(Thr271=)	NC_000019.9:g.10434186C>T	(Likely) benign	1 lab	edd76f8280
X:54957742 TRO T>C	X	54957742	54957742	T	C	TRO	c.2092T>C	NM_016157.3	NP_057241.2:p.(Tyr698His)	NC_000023.10:g.54957742T>C	(Likely) benign	1 lab	edd846210d
16:2134598 TSC2 C>T	16	2134598	2134598	C	T	TSC2	c.4375C>T	NM_000548.3	NP_000539.2:p.(Arg1459Ter)	NC_000016.9:g.2134598C>T	(Likely) pathogenic	1 lab	edd874ade2
7:117180365 CFTR T>C	7	117180365	117180365	T	C	CFTR	c.1081T>C	NM_000492.3	NP_000483.3:p.(Trp361Arg)	NC_000007.13:g.117180365T>C	(Likely) pathogenic	1 lab	edd8c4ff57
X:54228569 WNK3 T>G	X	54228569	54228569	T	G	WNK3	c.4928A>C	NM_020922.4	NP_065973.2:p.(Lys1643Thr)	NC_000023.10:g.54228569T>G	VUS	1 lab	eddb6ce67b
21:47614474 LSS C>T	21	47614474	47614474	C	T	LSS	c.1919G>A	NM_002340.6	NP_002331.3:p.(Arg640His)	NC_000021.8:g.47614474C>T	VUS	1 lab	eddc40e4cd
12:57598212 LRP1 C>T	12	57598212	57598212	C	T	LRP1	c.10971C>T	NM_002332.2	NP_002323.2:p.(Asp3657=)	NC_000012.11:g.57598212C>T	(Likely) benign	1 lab	edddd5066f
7:112096150 IFRD1 T>A	7	112096150	112096150	T	A	IFRD1	c.284+9T>A	NM_001007245.2	NP_001007246.1:p.?	NC_000007.13:g.112096150T>A	(Likely) benign	1 lab	edde7a6bbd
19:7621475 PNPLA6 T>G	19	7621475	7621475	T	G	PNPLA6	c.3096+20T>G	NM_006702.4	NP_006693.3:p.?	NC_000019.9:g.7621475T>G	(Likely) benign	1 lab	30d0b349a6
7:141794648 MGAM C>T	7	141794648	141794648	C	T	MGAM	c.4755C>T	NM_004668.2	NP_004659.2:p.(Asn1585=)	NC_000007.13:g.141794648C>T	(Likely) benign	1 lab	eddea5bd21
13:23910591 SACS T>C	13	23910591	23910591	T	C	SACS	c.7424A>G	NM_014363.5	NP_055178.3:p.(Lys2475Arg)	NC_000013.10:g.23910591T>C	VUS	1 lab	ede10769c8
4:103188714 SLC39A8 T>C	4	103188714	103188714	T	C	SLC39A8	c.1166A>G	NM_001135147.1	NP_001128619.1:p.(Asn389Ser)	NC_000004.11:g.103188714T>C	(Likely) benign	1 lab	ede1f1256c
7:50611651 DDC C>T	7	50611651	50611651	C	T	DDC	c.133G>A	NM_001082971.1	NP_001076440.1:p.(Ala45Thr)	NC_000007.13:g.50611651C>T	(Likely) benign	1 lab	ede2842ac8
19:56733288 ZSCAN5A GTC>G	19	56733288	56733294	GTC	G	ZSCAN5A	c.1145_1146del	NM_001322064.3	NP_001308993.1:p.(Arg382ThrfsTer5)	NC_000019.9:g.56733293_56733294del	VUS	1 lab	ede2851917
9:96051824 WNK2 G>C	9	96051824	96051824	G	C	WNK2	c.4899G>C	NM_001282394.1	NP_001269323.1:p.(Glu1633Asp)	NC_000009.11:g.96051824G>C	VUS	1 lab	ede2e8163f
16:87637749 JPH3 G>A	16	87637749	87637749	G	A	JPH3	c.437G>A	NM_001271605.1	NP_001258534.1:p.(Gly146Asp)	NC_000016.9:g.87637749G>A	(Likely) benign	1 lab	ede36e663a
3:70014312 MITF A>C	3	70014312	70014312	A	C	MITF	c.1476A>C	NM_198159.2	NP_937802.1:p.(Pro492=)	NC_000003.11:g.70014312A>C	(Likely) benign	1 lab	ede5ce887d
17:11522929 DNAH9 T>G	17	11522929	11522929	T	G	DNAH9	c.1181T>G	NM_001372.3	NP_001363.2:p.(Leu394Arg)	NC_000017.10:g.11522929T>G	VUS	1 lab	edf3934a60
19:58928526 ZNF584 A>G	19	58928526	58928526	A	G	ZNF584	c.641A>G	NM_173548.3	NP_775819.1:p.(His214Arg)	NC_000019.9:g.58928526A>G	VUS	1 lab	ede74070e7
16:27715244 KATNIP C>G	16	27715244	27715244	C	G	KATNIP	c.1314C>G	NM_015202.3	NP_056017.3:p.(Leu438=)	NC_000016.9:g.27715244C>G	(Likely) benign	1 lab	ede7654264
X:71428469 ERCC6L T>C	X	71428469	71428469	T	C	ERCC6L	c.148A>G	NM_017669.4	NP_060139.2:p.(Ile50Val)	NC_000023.10:g.71428469T>C	(Likely) benign	1 lab	ede868a707
1:234745019 IRF2BP2 G>T	1	234745019	234745019	G	T	IRF2BP2	c.222C>A	NM_182972.2	NP_892017.2:p.(Gly74=)	NC_000001.10:g.234745019G>T	(Likely) benign	1 lab	ede96c8222
20:61299254 SLCO4A1 G>A	20	61299254	61299254	G	A	SLCO4A1	c.1630G>A	NM_016354.4	NP_057438.3:p.(Gly544Ser)	NC_000020.10:g.61299254G>A	VUS	1 lab	ede97d0ea3
2:166246271 SCN2A A>G	2	166246271	166246271	A	G	SCN2A	c.5955A>G	NM_021007.2	NP_066287.2:p.(Lys1985=)	NC_000002.11:g.166246271A>G	(Likely) benign	1 lab	edecec704d
3:147108824 ZIC4 AAT>A	3	147108824	147108826	AAT	A	ZIC4	c.896_897del	NM_032153.6	NP_115529.2:p.(Asp299ValfsTer45)	NC_000003.11:g.147108825_147108826del	VUS	1 lab	edeeed5037
2:219527655 BCS1L CA>C	2	219527655	219527657	CA	C	BCS1L	c.941del	NM_001079866.2	NP_001073335.1:p.(Asn314MetfsTer16)	NC_000002.11:g.219527657del	(Likely) pathogenic	1 lab	edefaf17a6
17:48655625 CACNA1G C>T	17	48655625	48655625	C	T	CACNA1G	c.2001C>T	NM_018896.4	NP_061496.2:p.(Cys667=)	NC_000017.10:g.48655625C>T	(Likely) benign	1 lab	edf0cbb478
2:234229394 SAG C>T	2	234229394	234229394	C	T	SAG	c.300C>T	NM_000541.4	NP_000532.2:p.(Ala100=)	NC_000002.11:g.234229394C>T	(Likely) benign	1 lab	edf12aaa74
11:65488199 RNASEH2C T>C	11	65488199	65488199	T	C	RNASEH2C	c.31A>G	NM_032193.3	NP_115569.2:p.(Arg11Gly)	NC_000011.9:g.65488199T>C	(Likely) benign	1 lab	edf2b60f7e
10:43601986 RET G>A	10	43601986	43601986	G	A	RET	c.1030G>A	NM_020975.4	NP_066124.1:p.(Gly344Ser)	NC_000010.10:g.43601986G>A	(Likely) benign	1 lab	edf70b6bdc
1:235964199 LYST T>C	1	235964199	235964199	T	C	LYST	c.3911A>G	NM_000081.3	NP_000072.2:p.(Glu1304Gly)	NC_000001.10:g.235964199T>C	VUS	1 lab	edf74c9200
1:3347592 PRDM16 C>A	1	3347592	3347592	C	A	PRDM16	c.3441C>A	NM_022114.3	NP_071397.3:p.(Pro1147=)	NC_000001.10:g.3347592C>A	(Likely) benign	1 lab	edf90b3bb9
11:125859535 CDON T>C	11	125859535	125859535	T	C	CDON	c.2770A>G	NM_001243597.1	NP_001230526.1:p.(Lys924Glu)	NC_000011.9:g.125859535T>C	(Likely) benign	1 lab	edf9e7d365
X:14861831 FANCB C>A	X	14861831	14861831	C	A	FANCB	c.2438G>T	NM_001018113.1	NP_001018123.1:p.(Arg813Ile)	NC_000023.10:g.14861831C>A	VUS	1 lab	edfa97034b
15:52720698 MYO5A A>G	15	52720698	52720698	A	G	MYO5A	c.207T>C	NM_000259.3	NP_000250.3:p.(Val69=)	NC_000015.9:g.52720698A>G	(Likely) benign	1 lab	edfafac0dc
9:139906981 ABCA2 C>A	9	139906981	139906981	C	A	ABCA2	c.5233G>T	NM_212533.2	NP_997698.1:p.(Ala1745Ser)	NC_000009.11:g.139906981C>A	(Likely) benign	1 lab	edfce46baf
X:107413877 COL4A6 A>G	X	107413877	107413877	A	G	COL4A6	c.3506T>C	NM_001287758.1	NP_001274687.1:p.(Ile1169Thr)	NC_000023.10:g.107413877A>G	VUS	1 lab	ee0b08b4c1
X:48125761 SSX1 G>A	X	48125761	48125761	G	A	SSX1	c.506G>A	NM_001278691.1	NP_001265620.1:p.(Arg169His)	NC_000023.10:g.48125761G>A	(Likely) benign	1 lab	ee0110d609
X:7243413 STS G>A	X	7243413	7243413	G	A	STS	c.1130G>A	NM_000351.5	NP_000342.2:p.(Arg377Gln)	NC_000023.10:g.7243413G>A	VUS	1 lab	ee0171d5cd
X:130415257 IGSF1 C>T	X	130415257	130415257	C	T	IGSF1	c.1581G>A	NM_001170961.1	NP_001164432.1:p.(Met527Ile)	NC_000023.10:g.130415257C>T	(Likely) benign	1 lab	ee02563329
19:17062847 MISSING G>C	19	17062847	17062847	G	C	MISSING				NC_000019.9:g.17062847G>C	(Likely) benign	1 lab	ee02caff00
13:111130477 COL4A2 G>T	13	111130477	111130477	G	T	COL4A2	c.2553G>T	NM_001846.3	NP_001837.2:p.(Gly851=)	NC_000013.10:g.111130477G>T	(Likely) benign	1 lab	ee02f08c29
9:139412697 NOTCH1 C>T	9	139412697	139412697	C	T	NOTCH1	c.1147G>A	NM_017617.5	NP_060087.3:p.(Glu383Lys)	NC_000009.11:g.139412697C>T	(Likely) benign	1 lab	ee03150e64
3:123452906 MYLK G>A	3	123452906	123452906	G	A	MYLK	c.937C>T	NM_053025.3	NP_444253.3:p.(Gln313Ter)	NC_000003.11:g.123452906G>A	(Likely) pathogenic	1 lab	ee05438a00
4:20620406 SLIT2 G>A	4	20620406	20620406	G	A	SLIT2	c.4364G>A	NM_004787.3	NP_004778.1:p.(Gly1455Glu)	NC_000004.11:g.20620406G>A	(Likely) benign	1 lab	ee070231b7
10:1142119 WDR37 A>G	10	1142119	1142119	A	G	WDR37	c.659A>G	NM_014023.3	NP_054742.2:p.(Asp220Gly)	NC_000010.10:g.1142119A>G	VUS	1 lab	ee07252ece
7:93516666 TFPI2 A>G	7	93516666	93516666	A	G	TFPI2	c.538T>C	NM_006528.3	NP_006519.1:p.(Tyr180His)	NC_000007.13:g.93516666A>G	(Likely) benign	1 lab	ee0a166594
12:111885351 SH2B3 ATGGGGTGGGG>A	12	111885351	111885376	ATGGGGTGGGG	A	SH2B3	c.1236+19_1236+28del	NM_005475.3	NP_005466.1:p.?	NC_000012.11:g.111885367_111885376del	(Likely) benign	1 lab	ee0a3f5dde
6:17600839 FAM8A1 T>C	6	17600839	17600839	T	C	FAM8A1	c.199T>C	NM_016255.3	NP_057339.1:p.(Leu67=)	NC_000006.11:g.17600839T>C	(Likely) benign	1 lab	ee0b3026bc
1:11839006 C1orf167 G>A	1	11839006	11839006	G	A	C1orf167	c.2520G>A	NM_001010881.1	NP_001010881.1:p.(Pro840=)	NC_000001.10:g.11839006G>A	(Likely) benign	1 lab	ee0c63baee
17:18075491 MYO15A A>G	17	18075491	18075491	A	G	MYO15A	c.10237A>G	NM_016239.3	NP_057323.3:p.(Met3413Val)	NC_000017.10:g.18075491A>G	VUS	1 lab	ee0e3bddcc
6:42946482 PEX6 G>T	6	42946482	42946482	G	T	PEX6	c.407C>A	NM_000287.3	NP_000278.3:p.(Pro136Gln)	NC_000006.11:g.42946482G>T	(Likely) benign	1 lab	ee0f0ff9e3
12:103246594 PAH G>A	12	103246594	103246594	G	A	PAH	c.841C>T	NM_000277.1	NP_000268.1:p.(Pro281Ser)	NC_000012.11:g.103246594G>A	(Likely) pathogenic	1 lab	ee0fed9fec
17:29654781 NF1 A>T	17	29654781	29654781	A	T	NF1	c.5470A>T	NM_000267.3	NP_000258.1:p.(Ile1824Phe)	NC_000017.10:g.29654781A>T	VUS	1 lab	ee1013de4f
11:6647285 DCHS1 A>G	11	6647285	6647285	A	G	DCHS1				NC_000011.9:g.6647285A>G	(Likely) benign	1 lab	ee102cd895
7:107599765 LAMB1 G>A	7	107599765	107599765	G	A	LAMB1	c.2619C>T	NM_002291.2	NP_002282.2:p.(Ala873=)	NC_000007.13:g.107599765G>A	(Likely) benign	1 lab	ee107206de
X:153278031 IRAK1 C>T	X	153278031	153278031	C	T	IRAK1	c.2029G>A	NM_001569.3	NP_001560.2:p.(Glu677Lys)	NC_000023.10:g.153278031C>T	(Likely) benign	1 lab	ee10babd13
X:18646607 CDKL5 C>T	X	18646607	18646607	C	T	CDKL5	c.2613C>T	NM_001323289.1	NP_001310218.1:p.(Phe871=)	NC_000023.10:g.18646607C>T	(Likely) benign	1 lab	ee1145f6a8
5:7886819 MTRR A>T	5	7886819	7886819	A	T	MTRR	c.1146+3A>T	NM_002454.2	NP_002445.2:p.?	NC_000005.9:g.7886819A>T	VUS	1 lab	ee11ee9d14
11:103326007 DYNC2H1 C>T	11	103326007	103326007	C	T	DYNC2H1	c.12571C>T	NM_001080463.1	NP_001073932.1:p.(Arg4191Cys)	NC_000011.9:g.103326007C>T	VUS	1 lab	ee120d21a5
X:122536889 GRIA3 T>C	X	122536889	122536889	T	C	GRIA3	c.1125T>C	NM_000828.4	NP_000819.3:p.(Tyr375=)	NC_000023.10:g.122536889T>C	(Likely) benign	1 lab	ee13a253e8
16:2098584 TSC2 A>C	16	2098584	2098584	A	C	TSC2	c.-29-4A>C	NM_001114382.2	NP_001107854.1:p.?	NC_000016.9:g.2098584A>C	VUS	1 lab	eeba51d224
5:172386904 RPL26L1 G>A	5	172386904	172386904	G	A	RPL26L1	c.28G>A	NM_001317980.1	NP_001304909.1:p.(Asp10Asn)	NC_000005.9:g.172386904G>A	(Likely) benign	1 lab	ee14be80e3
11:6655490 DCHS1 A>G	11	6655490	6655490	A	G	DCHS1				NC_000011.9:g.6655490A>G	(Likely) benign	1 lab	ee15470459
1:215821053 USH2A C>T	1	215821053	215821053	C	T	USH2A	c.14602G>A	NM_206933.2	NP_996816.2:p.(Val4868Met)	NC_000001.10:g.215821053C>T	VUS	1 lab	ee155c3c35
7:141255314 AGK A>G	7	141255314	141255314	A	G	AGK	c.48A>G	NM_018238.4	NP_060708.1:p.(Thr16=)	NC_000007.13:g.141255314A>G	(Likely) benign	1 lab	ee15a76835
20:57429629 GNAS G>T	20	57429629	57429629	G	T	GNAS	c.1309G>T	NM_080425.3	NP_536350.2:p.(Ala437Ser)	NC_000020.10:g.57429629G>T	(Likely) benign	1 lab	ee1779601b
6:152841650 SYNE1 G>A	6	152841650	152841650	G	A	SYNE1	c.253C>T	NM_182961.3	NP_892006.3:p.(Arg85Ter)	NC_000006.11:g.152841650G>A	(Likely) pathogenic	1 lab	ee182f8140
3:148928045 CP G>T	3	148928045	148928045	G	T	CP	c.516C>A	NM_000096.3	NP_000087.1:p.(Gly172=)	NC_000003.11:g.148928045G>T	(Likely) benign	1 lab	ee18498303
15:86687050 AGBL1 G>A	15	86687050	86687050	G	A	AGBL1	c.236G>A	NM_152336.3	NP_689549.3:p.(Arg79Gln)	NC_000015.9:g.86687050G>A	(Likely) benign	1 lab	ee1993105c
18:34232743 FHOD3 C>T	18	34232743	34232743	C	T	FHOD3	c.1497C>T	NM_001281740.2	NP_001268669.1:p.(Ser499=)	NC_000018.9:g.34232743C>T	(Likely) benign	1 lab	ee1a403a04
9:35657869 RMRP C>T	9	35657869	35657869	C	T	RMRP	n.147G>A	NR_003051.3		NC_000009.11:g.35657869C>T	(Likely) pathogenic	1 lab	f5a57b4a9a
8:133644995 DNAAF11 T>C	8	133644995	133644995	T	C	DNAAF11	c.644A>G	NM_012472.5	NP_036604.2:p.(Asn215Ser)	NC_000008.10:g.133644995T>C	VUS	1 lab	ee1ba3e3f9
18:12329564 AFG3L2 C>G	18	12329564	12329564	C	G	AFG3L2	c.2394G>C	NM_006796.2	NP_006787.2:p.(Ter798TyrextTer32)	NC_000018.9:g.12329564C>G	VUS	1 lab	ee1bbd9cb9
20:2384349 TGM6 G>A	20	2384349	2384349	G	A	TGM6	c.1216G>A	NM_198994.2	NP_945345.2:p.(Glu406Lys)	NC_000020.10:g.2384349G>A	(Likely) benign	1 lab	ee1c6491e5
2:179587646 TTN G>A	2	179587646	179587646	G	A	TTN	c.21980C>T	NM_001267550.1	NP_001254479.1:p.(Thr7327Met)	NC_000002.11:g.179587646G>A	(Likely) benign	1 lab	ee1ee97441
X:154507218 CLIC2 C>T	X	154507218	154507218	C	T	CLIC2	c.718G>A	NM_001289.5	NP_001280.3:p.(Ala240Thr)	NC_000023.10:g.154507218C>T	(Likely) benign	1 lab	ee20d66538
X:41205476 DDX3X C>T	X	41205476	41205476	C	T	DDX3X	c.1316-6C>T	NM_001356.4	NP_001347.3:p.?	NC_000023.10:g.41205476C>T	(Likely) benign	1 lab	ee21e1bd70
11:1269933 MUC5B T>G	11	1269933	1269933	T	G	MUC5B	c.11823T>G	NM_002458.2	NP_002449.2:p.(Ser3941Arg)	NC_000011.9:g.1269933T>G	(Likely) benign	1 lab	ee222fe3d6
19:42753382 ERF G>A	19	42753382	42753382	G	A	ERF	c.882C>T	NM_006494.3	NP_006485.2:p.(Pro294=)	NC_000019.9:g.42753382G>A	(Likely) benign	1 lab	ee2275170a
19:56539327 NLRP5 T>C	19	56539327	56539327	T	C	NLRP5	c.1728T>C	NM_153447.4	NP_703148.4:p.(Cys576=)	NC_000019.9:g.56539327T>C	(Likely) benign	1 lab	ee22f147b7
6:146351012 GRM1 T>C	6	146351012	146351012	T	C	GRM1	c.359T>C	NM_001278065.1	NP_001264994.1:p.(Ile120Thr)	NC_000006.11:g.146351012T>C	VUS	1 lab	ee23ec0ca5
X:19433338 MAP3K15 G>A	X	19433338	19433338	G	A	MAP3K15	c.1477C>T	NM_001001671.3	NP_001001671.3:p.(Arg493Trp)	NC_000023.10:g.19433338G>A	VUS	1 lab	ee240c0bf3
17:7319028 NLGN2 C>T	17	7319028	7319028	C	T	NLGN2	c.1236C>T	NM_020795.4	NP_065846.1:p.(Asn412=)	NC_000017.10:g.7319028C>T	(Likely) benign	1 lab	ee24fa3912
15:77328143 PSTPIP1 C>T	15	77328143	77328143	C	T	PSTPIP1	c.959C>T	NM_001321136.1	NP_001308065.1:p.(Ala320Val)	NC_000015.9:g.77328143C>T	VUS	1 lab	ee267111ee
6:152651354 SYNE1 T>C	6	152651354	152651354	T	C	SYNE1	c.14466A>G	NM_182961.3	NP_892006.3:p.(Ala4822=)	NC_000006.11:g.152651354T>C	(Likely) benign	1 lab	ee278f0cf9
4:126355514 FAT4 C>A	4	126355514	126355514	C	A	FAT4	c.7133C>A	NM_024582.4	NP_078858.4:p.(Pro2378Gln)	NC_000004.11:g.126355514C>A	VUS	1 lab	ee2850e28f
17:78083827 GAA CGAGA>C	17	78083827	78083831	CGAGA	C	GAA	c.1411_1414del	NM_000152.5	NP_000143.2:p.(Glu471ProfsTer5)	NC_000017.10:g.78083828_78083831del	(Likely) pathogenic	1 lab	ee2a3e08bd
1:28206340 THEMIS2 ATCCGCTC>A	1	28206340	28206348	ATCCGCTC	A	THEMIS2	c.423_429del	NM_001105556.3	NP_001099026.1:p.(Ile141MetfsTer45)	NC_000001.10:g.28206342_28206348del	VUS	1 lab	ee2b1a458d
5:176666791 NSD1 T>C	5	176666791	176666791	T	C	NSD1	c.4227T>C	NM_022455.4	NP_071900.2:p.(Thr1409=)	NC_000005.9:g.176666791T>C	(Likely) benign	1 lab	ee2dc923b6
8:141231639 TRAPPC9 C>T	8	141231639	141231639	C	T	TRAPPC9	c.2448G>A	NM_001321646.1	NP_001308575.1:p.(Arg816=)	NC_000008.10:g.141231639C>T	(Likely) benign	1 lab	ee2f58b2c0
1:6310562 GPR153 C>G	1	6310562	6310562	C	G	GPR153	c.1102G>C	NM_207370.3	NP_997253.2:p.(Gly368Arg)	NC_000001.10:g.6310562C>G	(Likely) benign	1 lab	ee3023ae41
19:9087368 MUC16 T>C	19	9087368	9087368	T	C	MUC16	c.4447A>G	NM_024690.2	NP_078966.2:p.(Met1483Val)	NC_000019.9:g.9087368T>C	VUS	1 lab	ee305b4c45
X:44949971 KDM6A G>T	X	44949971	44949971	G	T	KDM6A	c.3896G>T	NM_001291415.1	NP_001278344.1:p.(Cys1299Phe)	NC_000023.10:g.44949971G>T	VUS	1 lab	ee3077518c
9:133342180 ASS1 C>T	9	133342180	133342180	C	T	ASS1	c.489C>T	NM_000050.4	NP_000041.2:p.(Tyr163=)	NC_000009.11:g.133342180C>T	(Likely) benign	1 lab	ee33289ca5
22:38130986 TRIOBP C>T	22	38130986	38130986	C	T	TRIOBP	c.4643C>T	NM_001039141.2	NP_001034230.1:p.(Pro1548Leu)	NC_000022.10:g.38130986C>T	(Likely) benign	1 lab	ee3332739a
17:61919991 SMARCD2 C>A	17	61919991	61919991	C	A	SMARCD2	c.44G>T	NM_001098426.1	NP_001091896.1:p.(Ser15Ile)	NC_000017.10:g.61919991C>A	VUS	1 lab	ee346237fb
4:39247016 WDR19 C>T	4	39247016	39247016	C	T	WDR19	c.2673C>T	NM_025132.3	NP_079408.3:p.(His891=)	NC_000004.11:g.39247016C>T	(Likely) benign	1 lab	ee35233c33
8:145738950 RECQL4 C>T	8	145738950	145738950	C	T	RECQL4	c.2200+5G>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738950C>T	VUS	1 lab	ee356f67d3
20:62038450 KCNQ2 GCT>G	20	62038450	62038454	GCT	G	KCNQ2	c.2164_2165del	NM_172107.4	NP_742105.1:p.(Ser722ProfsTer142)	NC_000020.10:g.62038453_62038454del	(Likely) pathogenic	1 lab	ee3617d421
X:67273508 OPHN1 G>A	X	67273508	67273508	G	A	OPHN1	c.2303C>T	NM_002547.2	NP_002538.1:p.(Ala768Val)	NC_000023.10:g.67273508G>A	(Likely) benign	1 lab	ee36ca88cc
8:100844605 VPS13B T>A	8	100844605	100844605	T	A	VPS13B	c.9414T>A	NM_017890.4	NP_060360.3:p.(Arg3138=)	NC_000008.10:g.100844605T>A	(Likely) benign	1 lab	ee370b44be
17:76446411 DNAH17 C>T	17	76446411	76446411	C	T	DNAH17	c.10965G>A	NM_173628.3	NP_775899.3:p.(Ala3655=)	NC_000017.10:g.76446411C>T	(Likely) benign	1 lab	ee39654ad1
18:47753885 CFAP53 G>A	18	47753885	47753885	G	A	CFAP53	c.1411C>T	NM_145020.4	NP_659457.2:p.(Arg471Ter)	NC_000018.9:g.47753885G>A	VUS	1 lab	ee39e1e2a8
11:66459015 SPTBN2 G>A	11	66459015	66459015	G	A	SPTBN2	c.5305C>T	NM_006946.3	NP_008877.1:p.(Arg1769Trp)	NC_000011.9:g.66459015G>A	VUS	1 lab	ee3ad8f3ae
18:67833385 RTTN T>C	18	67833385	67833385	T	C	RTTN	c.1842A>G	NM_173630.3	NP_775901.3:p.(Glu614=)	NC_000018.9:g.67833385T>C	(Likely) benign	1 lab	ee3b70bef3
17:29676194 NF1 C>T	17	29676194	29676194	C	T	NF1	c.7246C>T	NM_001042492.2	NP_001035957.1:p.(Leu2416=)	NC_000017.10:g.29676194C>T	(Likely) benign	1 lab	ee3c220422
X:92927190 NAP1L3 C>A	X	92927190	92927190	C	A	NAP1L3	c.1114G>T	NM_004538.5	NP_004529.2:p.(Val372Leu)	NC_000023.10:g.92927190C>A	(Likely) benign	1 lab	ee3c84ef39
12:70984002 PTPRB C>G	12	70984002	70984002	C	G	PTPRB	c.1792G>C	NM_001109754.3	NP_001103224.1:p.(Val598Leu)	NC_000012.11:g.70984002C>G	VUS	1 lab	ee3cccf6d7
16:87723869 JPH3 G>A	16	87723869	87723869	G	A	JPH3	c.1903G>A	NM_020655.3	NP_065706.2:p.(Ala635Thr)	NC_000016.9:g.87723869G>A	(Likely) benign	1 lab	ee3d37f177
7:47925331 PKD1L1 C>T	7	47925331	47925331	C	T	PKD1L1	c.3158G>A	NM_138295.4	NP_612152.1:p.(Arg1053His)	NC_000007.13:g.47925331C>T	(Likely) benign	1 lab	ee40146c9f
8:8235217 PRAG1 C>T	8	8235217	8235217	C	T	PRAG1	c.702G>A	NM_001080826.2	NP_001074295.2:p.(Ser234=)	NC_000008.10:g.8235217C>T	VUS	1 lab	ee41c81782
10:123279674 FGFR2 G>A	10	123279674	123279674	G	A	FGFR2	c.758C>T	NM_000141.4	NP_000132.3:p.(Pro253Leu)	NC_000010.10:g.123279674G>A	VUS	1 lab	ee423c7da8
14:74759072 ABCD4 G>A	14	74759072	74759072	G	A	ABCD4	c.1036C>T	NM_020325.2	NP_064730.1:p.(Gln346Ter)	NC_000014.8:g.74759072G>A	(Likely) pathogenic	1 lab	ee42b0366b
8:11970619 ZNF705D T>C	8	11970619	11970619	T	C	ZNF705D	c.855T>C	NM_001039615.3	NP_001034704.2:p.(Ala285=)	NC_000008.10:g.11970619T>C	(Likely) benign	1 lab	ee437998fd
12:2743546 CACNA1C C>T	12	2743546	2743546	C	T	CACNA1C	c.4056C>T	NM_199460.3	NP_955630.3:p.(Asn1352=)	NC_000012.11:g.2743546C>T	(Likely) benign	1 lab	ee4a11dc97
16:2034478 GFER G>A	16	2034478	2034478	G	A	GFER	c.258+1G>A	NM_005262.2	NP_005253.3:p.?	NC_000016.9:g.2034478G>A	(Likely) pathogenic	1 lab	ee4b5c27c3
2:179393609 TTN T>G	2	179393609	179393609	T	G	TTN	c.106869A>C	NM_001267550.1	NP_001254479.1:p.(Arg35623Ser)	NC_000002.11:g.179393609T>G	VUS	1 lab	ee4c0f57e0
12:49448093 KMT2D T>G	12	49448093	49448093	T	G	KMT2D	c.507A>C	NM_003482.3	NP_003473.3:p.(Ser169=)	NC_000012.11:g.49448093T>G	(Likely) benign	1 lab	ee4f08e1d1
5:89949338 ADGRV1 A>C	5	89949338	89949338	A	C	ADGRV1	c.3947A>C	NM_032119.4	NP_115495.3:p.(Gln1316Pro)	NC_000005.9:g.89949338A>C	VUS	1 lab	ee50de4450
2:234669402 UGT1A1 AG>A	2	234669402	234669403	AG	A	UGT1A1	c.470del	NM_000463.3	NP_000454.1:p.(Ser157ThrfsTer48)	NC_000002.11:g.234669403del	(Likely) pathogenic	1 lab	ee50f90904
7:23000919 HYCC1 C>G	7	23000919	23000919	C	G	HYCC1	c.766G>C	NM_001363466.1	NP_001350395.1:p.(Ala256Pro)	NC_000007.13:g.23000919C>G	VUS	1 lab	ee511d220c
12:88496749 CEP290 C>T	12	88496749	88496749	C	T	CEP290	c.2857G>A	NM_025114.3	NP_079390.3:p.(Val953Ile)	NC_000012.11:g.88496749C>T	VUS	1 lab	ee51f566a8
12:110760839 ATP2A2 A>G	12	110760839	110760839	A	G	ATP2A2	c.506A>G	NM_170665.4	NP_733765.1:p.(Lys169Arg)	NC_000012.11:g.110760839A>G	(Likely) benign	1 lab	ee5498aa27
11:134037918 NCAPD3 C>T	11	134037918	134037918	C	T	NCAPD3	c.3546G>A	NM_015261.2	NP_056076.1:p.(Gln1182=)	NC_000011.9:g.134037918C>T	(Likely) benign	1 lab	ee54d6a80f
1:236154306 NID1 G>A	1	236154306	236154306	G	A	NID1	c.2808C>T	NM_002508.2	NP_002499.2:p.(Ala936=)	NC_000001.10:g.236154306G>A	(Likely) benign	1 lab	ee552c624a
16:16263499 ABCC6 G>A	16	16263499	16263499	G	A	ABCC6	c.2995+4C>T	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16263499G>A	(Likely) benign	1 lab	ee55cbe7ad
7:117176738 CFTR C>T	7	117176738	117176738	C	T	CFTR	c.869+11C>T	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117176738C>T	(Likely) benign	1 lab	ee56b345be
2:130914163 SMPD4 T>G	2	130914163	130914163	T	G	SMPD4	c.1300A>C	NM_017951.4	NP_060421.2:p.(Arg434=)	NC_000002.11:g.130914163T>G	(Likely) benign	1 lab	ee5852baa9
17:40766546 TUBG1 C>G	17	40766546	40766546	C	G	TUBG1	c.1029C>G	NM_001070.4	NP_001061.2:p.(Arg343=)	NC_000017.10:g.40766546C>G	(Likely) benign	1 lab	ee588b33d5
8:126059496 WASHC5 C>T	8	126059496	126059496	C	T	WASHC5	c.2457G>A	NM_014846.3	NP_055661.3:p.(Thr819=)	NC_000008.10:g.126059496C>T	(Likely) benign	1 lab	ee5929a499
2:179411540 TTN C>T	2	179411540	179411540	C	T	TTN	c.94615G>A	NM_001267550.1	NP_001254479.1:p.(Val31539Met)	NC_000002.11:g.179411540C>T	VUS	1 lab	ee596ca97c
X:131212157 FRMD7 G>C	X	131212157	131212157	G	C	FRMD7	c.1888C>G	NM_194277.2	NP_919253.1:p.(Gln630Glu)	NC_000023.10:g.131212157G>C	(Likely) benign	1 lab	ee597b7a15
2:128051284 ERCC3 TTTC>T	2	128051284	128051292	TTTC	T	ERCC3	c.36_38del	NM_000122.2	NP_000113.1:p.(Lys13del)	NC_000002.11:g.128051290_128051292del	VUS	1 lab	ee5a0f79e2
5:150932851 FAT2 G>C	5	150932851	150932851	G	C	FAT2	c.4043C>G	NM_001447.2	NP_001438.1:p.(Ala1348Gly)	NC_000005.9:g.150932851G>C	(Likely) benign	1 lab	ee5b9eb087
1:226127518 LEFTY2 C>G	1	226127518	226127518	C	G	LEFTY2	c.435G>C	NM_003240.4	NP_003231.2:p.(Val145=)	NC_000001.10:g.226127518C>G	(Likely) benign	1 lab	ee5e5e74fc
22:30077492 NF2 G>A	22	30077492	30077492	G	A	NF2	c.1639G>A	NM_181832.2	NP_861970.1:p.(Glu547Lys)	NC_000022.10:g.30077492G>A	VUS	1 lab	ee5eddac48
1:10042683 NMNAT1 G>A	1	10042683	10042683	G	A	NMNAT1	c.764G>A	NM_001297778.1	NP_001284707.1:p.(Ser255Asn)	NC_000001.10:g.10042683G>A	(Likely) benign	1 lab	ee607be9a3
6:170173427 ERMARD G>A	6	170173427	170173427	G	A	ERMARD	c.1246G>A	NM_018341.2	NP_060811.1:p.(Val416Ile)	NC_000006.11:g.170173427G>A	(Likely) benign	1 lab	ee612f4eef
4:151849662 LRBA T>G	4	151849662	151849662	T	G	LRBA	c.549+6A>C	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151849662T>G	(Likely) benign	1 lab	ee61bbbe32
6:35427104 FANCE G>A	6	35427104	35427104	G	A	FANCE	c.1114-4G>A	NM_021922.2	NP_068741.1:p.?	NC_000006.11:g.35427104G>A	(Likely) benign	1 lab	ee62eb1a4a
18:77170903 NFATC1 G>A	18	77170903	77170903	G	A	NFATC1	c.628G>A	NM_001278669.1	NP_001265598.1:p.(Val210Met)	NC_000018.9:g.77170903G>A	VUS	1 lab	ee63235ce0
20:62195230 HELZ2 G>A	20	62195230	62195230	G	A	HELZ2	c.4945C>T	NM_001037335.2	NP_001032412.2:p.(Arg1649Cys)	NC_000020.10:g.62195230G>A	VUS	1 lab	ee647ce008
10:54530431 MBL2 C>T	10	54530431	54530431	C	T	MBL2	c.303G>A	NM_000242.2	NP_000233.1:p.(Pro101=)	NC_000010.10:g.54530431C>T	(Likely) benign	1 lab	ee649c5865
3:42251374 TRAK1 C>T	3	42251374	42251374	C	T	TRAK1	c.1860C>T	NM_001042646.3	NP_001036111.1:p.(Asp620=)	NC_000003.11:g.42251374C>T	(Likely) benign	1 lab	ee66d028e7
X:71426563 ERCC6L T>C	X	71426563	71426563	T	C	ERCC6L	c.2054A>G	NM_017669.4	NP_060139.2:p.(Lys685Arg)	NC_000023.10:g.71426563T>C	(Likely) benign	1 lab	ee67204aec
1:21900201 ALPL C>A	1	21900201	21900201	C	A	ALPL	c.906C>A	NM_000478.5	NP_000469.3:p.(Asn302Lys)	NC_000001.10:g.21900201C>A	VUS	1 lab	ee684f6be5
6:33744911 LEMD2 G>A	6	33744911	33744911	G	A	LEMD2	c.1258+4C>T	NM_181336.3	NP_851853.1:p.?	NC_000006.11:g.33744911G>A	(Likely) benign	1 lab	ee687afe28
2:179454135 TTN G>A	2	179454135	179454135	G	A	TTN	c.62317C>T	NM_001267550.1	NP_001254479.1:p.(Leu20773=)	NC_000002.11:g.179454135G>A	(Likely) benign	1 lab	ee68a82cbc
4:158060086 GLRB T>C	4	158060086	158060086	T	C	GLRB	c.736T>C	NM_000824.4	NP_000815.1:p.(Tyr246His)	NC_000004.11:g.158060086T>C	VUS	1 lab	ee6a5238f7
10:50738783 ERCC6 G>A	10	50738783	50738783	G	A	ERCC6	c.526C>T	NM_001346440.1	NP_001333369.1:p.(Arg176Ter)	NC_000010.10:g.50738783G>A	(Likely) pathogenic	1 lab	ee6aa48c5b
6:129470160 LAMA2 G>A	6	129470160	129470160	G	A	LAMA2	c.946G>A	NM_000426.3	NP_000417.2:p.(Asp316Asn)	NC_000006.11:g.129470160G>A	VUS	1 lab	ee6af7d401
6:33133708 COL11A2 C>T	6	33133708	33133708	C	T	COL11A2	c.4482G>A	NM_080680.2	NP_542411.2:p.(Pro1494=)	NC_000006.11:g.33133708C>T	VUS	1 lab	ee6b59f785
14:102910131 TECPR2 C>T	14	102910131	102910131	C	T	TECPR2	c.2900C>T	NM_014844.4	NP_055659.2:p.(Pro967Leu)	NC_000014.8:g.102910131C>T	VUS	1 lab	ee6c11f38e
5:13716797 DNAH5 A>G	5	13716797	13716797	A	G	DNAH5	c.12708T>C	NM_001369.2	NP_001360.1:p.(Gly4236=)	NC_000005.9:g.13716797A>G	(Likely) benign	1 lab	ee6cb0cfbc
17:40474306 STAT3 G>C	17	40474306	40474306	G	C	STAT3	c.2095C>G	NM_139276.2	NP_644805.1:p.(Pro699Ala)	NC_000017.10:g.40474306G>C	(Likely) benign	1 lab	ee6fa630e2
4:8417560 ACOX3 G>A	4	8417560	8417560	G	A	ACOX3	c.311C>T	NM_003501.3	NP_003492.2:p.(Pro104Leu)	NC_000004.11:g.8417560G>A	(Likely) benign	1 lab	ee70786e19
12:111895122 ATXN2 C>T	12	111895122	111895122	C	T	ATXN2	c.3412G>A	NM_002973.3	NP_002964.3:p.(Ala1138Thr)	NC_000012.11:g.111895122C>T	VUS	1 lab	ee71465447
X:149639324 MAMLD1 A>ACAG	X	149639324	149639350	A	ACAG	MAMLD1	c.1503_1505dup	NM_005491.4	NP_005482.2:p.(Gln502dup)	NC_000023.10:g.149639348_149639350dup	(Likely) benign	1 lab	ee71525ef1
X:96139682 RPA4 G>A	X	96139682	96139682	G	A	RPA4	c.373G>A	NM_013347.4	NP_037479.1:p.(Val125Ile)	NC_000023.10:g.96139682G>A	(Likely) benign	1 lab	ee71b63e58
7:104747904 KMT2E T>C	7	104747904	104747904	T	C	KMT2E	c.3000T>C	NM_182931.2	NP_891847.1:p.(Tyr1000=)	NC_000007.13:g.104747904T>C	(Likely) benign	1 lab	ee739ef209
11:108196890 ATM C>G	11	108196890	108196890	C	G	ATM	c.6913C>G	NM_001351834.1	NP_001338763.1:p.(Gln2305Glu)	NC_000011.9:g.108196890C>G	(Likely) benign	1 lab	ee75072ca8
1:12364752 VPS13D A>G	1	12364752	12364752	A	G	VPS13D	c.6406A>G	NM_015378.4	NP_056193.2:p.(Thr2136Ala)	NC_000001.10:g.12364752A>G	(Likely) benign	1 lab	ee758e75a1
13:32944675 BRCA2 A>G	13	32944675	32944675	A	G	BRCA2	c.8468A>G	NM_000059.3	NP_000050.2:p.(Gln2823Arg)	NC_000013.10:g.32944675A>G	VUS	1 lab	ee763d889e
1:98348897 DPYD G>A	1	98348897	98348897	G	A	DPYD	c.73C>T	NM_000110.3	NP_000101.2:p.(His25Tyr)	NC_000001.10:g.98348897G>A	(Likely) benign	1 lab	ee76efad87
X:40482893 MPC1L A>G	X	40482893	40482893	A	G	MPC1L	c.76A>G	NM_001195522.2	NP_001182451.1:p.(Ser26Gly)	NC_000023.10:g.40482893A>G	VUS	1 lab	ee783ac295
7:51150917 COBL G>A	7	51150917	51150917	G	A	COBL	c.1105C>T	NM_001287436.2	NP_001274365.1:p.(Arg369Trp)	NC_000007.13:g.51150917G>A	VUS	1 lab	ee7857dcb1
12:69980082 CCT2 T>C	12	69980082	69980082	T	C	CCT2	c.36T>C	NM_006431.3	NP_006422.1:p.(Phe12=)	NC_000012.11:g.69980082T>C	(Likely) benign	1 lab	ee78a4c6bc
12:28122403 PTHLH A>G	12	28122403	28122403	A	G	PTHLH	c.25T>C	NM_198966.1	NP_945317.1:p.(Trp9Arg)	NC_000012.11:g.28122403A>G	(Likely) pathogenic	1 lab	ee7e234319
X:69478626 P2RY4 A>C	X	69478626	69478626	A	C	P2RY4	c.849T>G	NM_002565.3	NP_002556.1:p.(Ile283Met)	NC_000023.10:g.69478626A>C	(Likely) benign	1 lab	ee7e5e84d9
X:49066788 CACNA1F G>T	X	49066788	49066788	G	T	CACNA1F	c.4594C>A	NM_005183.3	NP_005174.2:p.(Arg1532=)	NC_000023.10:g.49066788G>T	VUS	1 lab	ee804d4427
7:143964143 CTAGE8 C>G	7	143964143	143964143	C	G	CTAGE8	c.2201G>C	NM_001278507.1	NP_001265436.1:p.(Arg734Pro)	NC_000007.13:g.143964143C>G	(Likely) benign	1 lab	ee812f4b0a
14:29237337 FOXG1 G>A	14	29237337	29237337	G	A	FOXG1	c.852G>A	NM_005249.4	NP_005240.3:p.(Leu284=)	NC_000014.8:g.29237337G>A	(Likely) benign	1 lab	ee82869c79
8:119123178 EXT1 C>T	8	119123178	119123178	C	T	EXT1	c.108G>A	NM_000127.2	NP_000118.2:p.(Arg36=)	NC_000008.10:g.119123178C>T	(Likely) benign	1 lab	ee843b3e10
17:29667671 NF1 A>G	17	29667671	29667671	A	G	NF1	c.6999+8A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29667671A>G	(Likely) benign	1 lab	ee874dc760
11:108380320 EXPH5 T>C	11	108380320	108380320	T	C	EXPH5	c.5914A>G	NM_015065.3	NP_055880.2:p.(Thr1972Ala)	NC_000011.9:g.108380320T>C	VUS	1 lab	ee88ada927
5:149360691 SLC26A2 C>A	5	149360691	149360691	C	A	SLC26A2	c.1535C>A	NM_000112.3	NP_000103.2:p.(Thr512Lys)	NC_000005.9:g.149360691C>A	(Likely) pathogenic	1 lab	ee89830ffd
19:1612377 TCF3 G>A	19	1612377	1612377	G	A	TCF3	c.1642C>T	NM_001351779.1	NP_001338708.1:p.(Arg548Cys)	NC_000019.9:g.1612377G>A	VUS	1 lab	ee89b57f9a
11:71817250 LRTOMT G>A	11	71817250	71817250	G	A	LRTOMT	c.352G>A	NM_001145309.3	NP_001138781.1:p.(Val118Ile)	NC_000011.9:g.71817250G>A	(Likely) benign	1 lab	ee89db1e90
X:48838278 GRIPAP1 G>A	X	48838278	48838278	G	A	GRIPAP1	c.1606C>T	NM_020137.4	NP_064522.3:p.(Leu536=)	NC_000023.10:g.48838278G>A	(Likely) benign	1 lab	ee8a174447
X:77296193 ATP7A G>A	X	77296193	77296193	G	A	ATP7A	c.3763G>A	NM_000052.6	NP_000043.4:p.(Gly1255Arg)	NC_000023.10:g.77296193G>A	(Likely) pathogenic	1 lab	ee8a3ce6aa
19:18466795 PGPEP1 G>A	19	18466795	18466795	G	A	PGPEP1	c.178G>A	NM_017712.3	NP_060182.1:p.(Ala60Thr)	NC_000019.9:g.18466795G>A	VUS	1 lab	ee8af10d3f
5:127595417 FBN2 G>A	5	127595417	127595417	G	A	FBN2	c.8469C>T	NM_001999.3	NP_001990.2:p.(Pro2823=)	NC_000005.9:g.127595417G>A	(Likely) benign	1 lab	ee8c9d11ed
X:6995377 PUDP T>A	X	6995377	6995377	T	A	PUDP	c.463A>T	NM_001135565.1	NP_001129037.1:p.(Ser155Cys)	NC_000023.10:g.6995377T>A	VUS	1 lab	ee8cca0fc9
X:39914682 BCOR C>T	X	39914682	39914682	C	T	BCOR	c.4680G>A	NM_001123385.1	NP_001116857.1:p.(Thr1560=)	NC_000023.10:g.39914682C>T	(Likely) benign	1 lab	ee8df651cb
5:52221170 ITGA1 C>T	5	52221170	52221170	C	T	ITGA1	c.2466C>T	NM_181501.1	NP_852478.1:p.(Val822=)	NC_000005.9:g.52221170C>T	(Likely) benign	1 lab	ee8ee0fe40
18:61002489 KDSR C>T	18	61002489	61002489	C	T	KDSR	c.879+1G>A	NM_002035.4	NP_002026.1:p.?	NC_000018.9:g.61002489C>T	VUS	1 lab	ee90b73462
X:66766196 AR C>T	X	66766196	66766196	C	T	AR	c.1208C>T	NM_000044.4	NP_000035.2:p.(Ala403Val)	NC_000023.10:g.66766196C>T	(Likely) benign	1 lab	ee9352526c
X:53966869 PHF8 G>T	X	53966869	53966869	G	T	PHF8	c.2730C>A	NM_015107.2	NP_055922.1:p.(Asp910Glu)	NC_000023.10:g.53966869G>T	(Likely) benign	1 lab	ee944eea68
5:149512411 PDGFRB G>A	5	149512411	149512411	G	A	PDGFRB	c.1029C>T	NM_002609.3	NP_002600.1:p.(Tyr343=)	NC_000005.9:g.149512411G>A	(Likely) benign	1 lab	ee9524e8e3
22:36697085 MYH9 G>A	22	36697085	36697085	G	A	MYH9	c.2650C>T	NM_002473.5	NP_002464.1:p.(Gln884Ter)	NC_000022.10:g.36697085G>A	VUS	1 lab	ee980aae25
15:62277151 VPS13C C>T	15	62277151	62277151	C	T	VPS13C	c.1626G>A	NM_001018088.2	NP_001018098.1:p.(Thr542=)	NC_000015.9:g.62277151C>T	(Likely) benign	1 lab	ee99522e5d
13:103718370 SLC10A2 C>T	13	103718370	103718370	C	T	SLC10A2	c.230G>A	NM_000452.2	NP_000443.1:p.(Gly77Glu)	NC_000013.10:g.103718370C>T	VUS	1 lab	ee9ab8bd37
2:179475883 TTN A>G	2	179475883	179475883	A	G	TTN	c.50973T>C	NM_001267550.1	NP_001254479.1:p.(Asp16991=)	NC_000002.11:g.179475883A>G	(Likely) benign	1 lab	ee9bad0bf0
9:139408988 NOTCH1 G>A	9	139408988	139408988	G	A	NOTCH1	c.2181C>T	NM_017617.5	NP_060087.3:p.(His727=)	NC_000009.11:g.139408988G>A	(Likely) benign	1 lab	ee9bd18d02
10:102749463 TWNK G>C	10	102749463	102749463	G	C	TWNK	c.1306G>C	NM_001163812.1	NP_001157284.1:p.(Gly436Arg)	NC_000010.10:g.102749463G>C	VUS	1 lab	ee9d12e353
3:178947241 PIK3CA T>G	3	178947241	178947241	T	G	PIK3CA	c.2666+11T>G	NM_006218.2	NP_006209.2:p.?	NC_000003.11:g.178947241T>G	(Likely) benign	1 lab	ee9d7f6f85
3:46747288 TMIE G>A	3	46747288	46747288	G	A	TMIE	c.102G>A	NM_147196.2	NP_671729.2:p.(Thr34=)	NC_000003.11:g.46747288G>A	(Likely) benign	1 lab	ee9e8bee54
14:51099021 ATL1 G>A	14	51099021	51099021	G	A	ATL1	c.1626G>A	NM_001127713.1	NP_001121185.1:p.(Ser542=)	NC_000014.8:g.51099021G>A	(Likely) benign	1 lab	ee9e9686fc
9:136597550 SARDH T>C	9	136597550	136597550	T	C	SARDH	c.505A>G	NM_007101.3	NP_009032.2:p.(Met169Val)	NC_000009.11:g.136597550T>C	(Likely) benign	1 lab	eea3188722
5:118835112 HSD17B4 C>T	5	118835112	118835112	C	T	HSD17B4	c.1148C>T	NM_001199291.2	NP_001186220.1:p.(Pro383Leu)	NC_000005.9:g.118835112C>T	VUS	1 lab	eea35cffd5
7:150767072 SLC4A2 G>A	7	150767072	150767072	G	A	SLC4A2	c.1186G>A	NM_001199692.2	NP_001186621.1:p.(Gly396Arg)	NC_000007.13:g.150767072G>A	VUS	1 lab	eea68f0f11
2:227659834 IRS1 A>G	2	227659834	227659834	A	G	IRS1	c.3621T>C	NM_005544.2	NP_005535.1:p.(Pro1207=)	NC_000002.11:g.227659834A>G	(Likely) benign	1 lab	eea7020308
15:90319691 MESP2 TC>T	15	90319691	90319693	TC	T	MESP2	c.105del	NM_001039958.2	NP_001035047.1:p.(Ser36ProfsTer84)	NC_000015.9:g.90319693del	(Likely) benign	1 lab	eea97f17b6
18:44057865 LOXHD1 T>C	18	44057865	44057865	T	C	LOXHD1	c.6206A>G	NM_144612.6	NP_653213.6:p.(Tyr2069Cys)	NC_000018.9:g.44057865T>C	VUS	1 lab	eeab0c7748
1:235944346 LYST A>G	1	235944346	235944346	A	G	LYST	c.5033T>C	NM_001301365.1	NP_001288294.1:p.(Val1678Ala)	NC_000001.10:g.235944346A>G	VUS	1 lab	eeac2fd12b
16:27459941 IL21R C>G	16	27459941	27459941	C	G	IL21R	c.1020C>G	NM_181079.4	NP_851565.4:p.(Ser340Arg)	NC_000016.9:g.27459941C>G	(Likely) benign	1 lab	eeb0f56d78
12:124242557 ATP6V0A2 A>G	12	124242557	124242557	A	G	ATP6V0A2	c.2549A>G	NM_012463.3	NP_036595.2:p.(Asn850Ser)	NC_000012.11:g.124242557A>G	(Likely) benign	1 lab	eeb18453b2
19:36593845 WDR62 C>T	19	36593845	36593845	C	T	WDR62	c.3336-5C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36593845C>T	(Likely) benign	1 lab	eeb1c9d9fa
X:47065401 UBA1 C>T	X	47065401	47065401	C	T	UBA1	c.1630C>T	NM_003334.4	NP_003325.2:p.(Arg544Trp)	NC_000023.10:g.47065401C>T	VUS	1 lab	eeb4ee7a27
X:7811956 VCX C>A	X	7811956	7811956	C	A	VCX	c.520C>A	NM_013452.2	NP_038480.2:p.(Leu174Met)	NC_000023.10:g.7811956C>A	VUS	1 lab	eeb5e02617
8:6303022 MCPH1 G>C	8	6303022	6303022	G	C	MCPH1	c.1779G>C	NM_024596.4	NP_078872.2:p.(Glu593Asp)	NC_000008.10:g.6303022G>C	(Likely) benign	1 lab	eeb5e6072f
X:131762643 HS6ST2 G>A	X	131762643	131762643	G	A	HS6ST2	c.1546C>T	NM_001077188.1	NP_001070656.1:p.(Arg516Cys)	NC_000023.10:g.131762643G>A	VUS	1 lab	eeb65c2f2b
X:39923631 BCOR C>G	X	39923631	39923631	C	G	BCOR	c.3460G>C	NM_001123385.1	NP_001116857.1:p.(Glu1154Gln)	NC_000023.10:g.39923631C>G	VUS	1 lab	eeb661aa4c
21:46896321 COL18A1 G>A	21	46896321	46896321	G	A	COL18A1	c.855G>A	NM_130445.2	NP_569712.2:p.(Leu285=)	NC_000021.8:g.46896321G>A	(Likely) benign	1 lab	eeb8fc445d
8:100871664 VPS13B G>A	8	100871664	100871664	G	A	VPS13B	c.11075G>A	NM_017890.4	NP_060360.3:p.(Gly3692Asp)	NC_000008.10:g.100871664G>A	VUS	1 lab	eeb93b6fb4
11:721122 EPS8L2 G>T	11	721122	721122	G	T	EPS8L2	c.616G>T	NM_022772.3	NP_073609.2:p.(Ala206Ser)	NC_000011.9:g.721122G>T	(Likely) benign	1 lab	eeb952d6d5
8:10468677 RP1L1 G>A	8	10468677	10468677	G	A	RP1L1	c.2931C>T	NM_178857.5	NP_849188.4:p.(Asp977=)	NC_000008.10:g.10468677G>A	(Likely) benign	1 lab	eeba9eb707
9:117849386 TNC G>T	9	117849386	117849386	G	T	TNC	c.624C>A	NM_002160.3	NP_002151.2:p.(Asp208Glu)	NC_000009.11:g.117849386G>T	(Likely) benign	1 lab	eebd622054
5:1878107 IRX4 G>C	5	1878107	1878107	G	C	IRX4	c.1614C>G	NM_001278635.1	NP_001265564.1:p.(Ala538=)	NC_000005.9:g.1878107G>C	(Likely) benign	1 lab	eec07cd09f
1:170689027 PRRX1 C>T	1	170689027	170689027	C	T	PRRX1	c.402C>T	NM_006902.4	NP_008833.1:p.(Thr134=)	NC_000001.10:g.170689027C>T	(Likely) benign	1 lab	eec2126cd3
2:37484044 NDUFAF7 C>T	2	37484044	37484044	C	T	NDUFAF7				NC_000002.11:g.37484044C>T	VUS	1 lab	eec30a68ed
2:179432796 TTN G>A	2	179432796	179432796	G	A	TTN	c.78063C>T	NM_001267550.1	NP_001254479.1:p.(Pro26021=)	NC_000002.11:g.179432796G>A	(Likely) benign	1 lab	eec34d85c5
12:49432238 KMT2D G>A	12	49432238	49432238	G	A	KMT2D	c.8901C>T	NM_003482.3	NP_003473.3:p.(Pro2967=)	NC_000012.11:g.49432238G>A	(Likely) benign	1 lab	eec3926049
12:112657296 HECTD4 G>A	12	112657296	112657296	G	A	HECTD4	c.6569-3C>T	NM_001109662.3	NP_001103132.3:p.?	NC_000012.11:g.112657296G>A	(Likely) benign	1 lab	eec4ad76bb
8:10465006 RP1L1 G>A	8	10465006	10465006	G	A	RP1L1	c.6602C>T	NM_178857.5	NP_849188.4:p.(Ala2201Val)	NC_000008.10:g.10465006G>A	VUS	1 lab	eec61a68c5
2:169870004 ABCB11 G>A	2	169870004	169870004	G	A	ABCB11	c.167C>T	NM_003742.4	NP_003733.2:p.(Ser56Leu)	NC_000002.11:g.169870004G>A	(Likely) benign	1 lab	eec7ea79c1
4:74302011 AFP T>C	4	74302011	74302011	T	C	AFP	c.32T>C	NM_001134.2	NP_001125.1:p.(Phe11Ser)	NC_000004.11:g.74302011T>C	VUS	1 lab	eec8660378
3:49167683 LAMB2 C>T	3	49167683	49167683	C	T	LAMB2	c.1206G>A	NM_002292.3	NP_002283.3:p.(Arg402=)	NC_000003.11:g.49167683C>T	(Likely) benign	1 lab	eecb73a905
13:114322394 GRK1 C>T	13	114322394	114322394	C	T	GRK1	c.693C>T	NM_002929.3	NP_002920.1:p.(Gly231=)	NC_000013.10:g.114322394C>T	(Likely) benign	1 lab	eecbcd2528
1:21889604 ALPL C>T	1	21889604	21889604	C	T	ALPL	c.299C>T	NM_000478.5	NP_000469.3:p.(Thr100Met)	NC_000001.10:g.21889604C>T	(Likely) pathogenic	1 lab	eecc1c6eed
X:138714580 MCF2 C>T	X	138714580	138714580	C	T	MCF2	c.265G>A	NM_001171876.1	NP_001165347.1:p.(Val89Ile)	NC_000023.10:g.138714580C>T	VUS	1 lab	eecd7f0e27
18:67718651 RTTN C>G	18	67718651	67718651	C	G	RTTN	c.5319G>C	NM_173630.3	NP_775901.3:p.(Ala1773=)	NC_000018.9:g.67718651C>G	(Likely) benign	1 lab	eecd86a45b
X:1713060 AKAP17A C>T	X	1713060	1713060	C	T	AKAP17A	c.705C>T	NM_005088.2	NP_005079.2:p.(Arg235=)	NC_000023.10:g.1713060C>T	(Likely) benign	1 lab	eecf49ef4c
10:86014101 RGR T>C	10	86014101	86014101	T	C	RGR	c.544T>C	NM_002921.3	NP_002912.2:p.(Phe182Leu)	NC_000010.10:g.86014101T>C	(Likely) benign	1 lab	eed0c5990a
11:103052629 DYNC2H1 A>T	11	103052629	103052629	A	T	DYNC2H1	c.6477+14A>T	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103052629A>T	(Likely) benign	1 lab	eed11bef3e
18:31250673 ASXL3 T>C	18	31250673	31250673	T	C	ASXL3	c.514T>C	NM_030632.2	NP_085135.1:p.(Ser172Pro)	NC_000018.9:g.31250673T>C	VUS	1 lab	eed1c69283
11:121008208 TECTA C>CCATCTG	11	121008208	121008215	C	CCATCTG	TECTA	c.3022_3027dup	NM_005422.2	NP_005413.2:p.(Ile1008_Cys1009dup)	NC_000011.9:g.121008210_121008215dup	VUS	1 lab	eed2380dec
10:121431796 BAG3 C>G	10	121431796	121431796	C	G	BAG3	c.537C>G	NM_004281.3	NP_004272.2:p.(Cys179Trp)	NC_000010.10:g.121431796C>G	VUS	1 lab	eed2a237c0
10:100184083 HPS1 C>T	10	100184083	100184083	C	T	HPS1	c.412G>A	NM_001322487.1	NP_001309416.1:p.(Gly138Arg)	NC_000010.10:g.100184083C>T	VUS	1 lab	eed35f13f9
X:47028832 RBM10 C>T	X	47028832	47028832	C	T	RBM10	c.331C>T	NM_001204468.1	NP_001191397.1:p.(Arg111Cys)	NC_000023.10:g.47028832C>T	VUS	1 lab	eed4b75d62
1:215847914 USH2A T>C	1	215847914	215847914	T	C	USH2A	c.13339A>G	NM_206933.2	NP_996816.2:p.(Met4447Val)	NC_000001.10:g.215847914T>C	VUS	1 lab	eed4eb7766
X:77268428 ATP7A A>G	X	77268428	77268428	A	G	ATP7A	c.2225A>G	NM_000052.6	NP_000043.4:p.(Lys742Arg)	NC_000023.10:g.77268428A>G	(Likely) benign	1 lab	eed5f939be
6:162622154 PRKN T>C	6	162622154	162622154	T	C	PRKN	c.534+9A>G	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.162622154T>C	(Likely) benign	1 lab	eed6aa2099
9:131341936 SPTAN1 A>G	9	131341936	131341936	A	G	SPTAN1	c.1242A>G	NM_001363759.1	NP_001350688.1:p.(Glu414=)	NC_000009.11:g.131341936A>G	(Likely) benign	1 lab	eedb037e75
6:70070771 ADGRB3 G>A	6	70070771	70070771	G	A	ADGRB3	c.3606G>A	NM_001704.3	NP_001695.2:p.(Lys1202=)	NC_000006.11:g.70070771G>A	(Likely) benign	1 lab	eedd6fd5f7
10:73560493 CDH23 G>A	10	73560493	73560493	G	A	CDH23	c.7463G>A	NM_022124.5	NP_071407.4:p.(Arg2488His)	NC_000010.10:g.73560493G>A	VUS	1 lab	eede2b98b6
2:219557313 STK36 G>T	2	219557313	219557313	G	T	STK36	c.1923G>T	NM_015690.4	NP_056505.2:p.(Pro641=)	NC_000002.11:g.219557313G>T	(Likely) benign	1 lab	eede94840c
1:161736182 ATF6 T>G	1	161736182	161736182	T	G	ATF6	c.32T>G	NM_007348.3	NP_031374.2:p.(Met11Arg)	NC_000001.10:g.161736182T>G	VUS	1 lab	eedeca0e43
9:35708458 TLN1 A>T	9	35708458	35708458	A	T	TLN1	c.4350T>A	NM_006289.4	NP_006280.3:p.(Ser1450=)	NC_000009.11:g.35708458A>T	VUS	1 lab	eee05a661a
X:114424656 RBMXL3 G>T	X	114424656	114424656	G	T	RBMXL3	c.652G>T	NM_001145346.1	NP_001138818.1:p.(Gly218Cys)	NC_000023.10:g.114424656G>T	(Likely) benign	1 lab	eee32c0881
19:54407954 PRKCG C>T	19	54407954	54407954	C	T	PRKCG	c.1722C>T	NM_002739.3	NP_002730.1:p.(Tyr574=)	NC_000019.9:g.54407954C>T	(Likely) benign	1 lab	eee53ab1ef
1:65858352 DNAJC6 T>C	1	65858352	65858352	T	C	DNAJC6	c.1707T>C	NM_001256864.2	NP_001243793.1:p.(Ser569=)	NC_000001.10:g.65858352T>C	(Likely) benign	1 lab	eee562a3cb
1:207643133 CR2 C>G	1	207643133	207643133	C	G	CR2	c.911C>G	NM_001006658.2	NP_001006659.1:p.(Thr304Ser)	NC_000001.10:g.207643133C>G	(Likely) benign	1 lab	eee6240620
2:166237695 SCN2A A>T	2	166237695	166237695	A	T	SCN2A	c.4539A>T	NM_021007.2	NP_066287.2:p.(Ile1513=)	NC_000002.11:g.166237695A>T	(Likely) benign	1 lab	eee719a35d
3:15677147 BTD C>T	3	15677147	15677147	C	T	BTD	c.261C>T	NM_000060.4	NP_000051.1:p.(Asn87=)	NC_000003.11:g.15677147C>T	(Likely) benign	1 lab	eee99d11a5
19:48821986 ODAD1 G>A	19	48821986	48821986	G	A	ODAD1	c.154C>T	NM_001364171.1	NP_001351100.1:p.(Arg52Cys)	NC_000019.9:g.48821986G>A	VUS	1 lab	eeeccbc693
20:10630975 JAG1 TG>T	20	10630975	10630978	TG	T	JAG1	c.1153del	NM_000214.3	NP_000205.1:p.(His385ThrfsTer27)	NC_000020.10:g.10630978del	(Likely) pathogenic	1 lab	eeed50c314
22:30077465 NF2 C>T	22	30077465	30077465	C	T	NF2	c.1612C>T	NM_000268.3	NP_000259.1:p.(Gln538Ter)	NC_000022.10:g.30077465C>T	(Likely) pathogenic	1 lab	eeed8c7a4e
11:70331661 SHANK2 CG>C	11	70331661	70331667	CG	C	SHANK2	c.4736del	NM_012309.5	NP_036441.2:p.(Pro1579ArgfsTer49)	NC_000011.9:g.70331667del	VUS	1 lab	eeedbbff58
10:89725077 PTEN C>A	10	89725077	89725077	C	A	PTEN	c.1060C>A	NM_000314.4	NP_000305.3:p.(Pro354Thr)	NC_000010.10:g.89725077C>A	VUS	1 lab	eeeef53a2c
1:215953202 USH2A C>T	1	215953202	215953202	C	T	USH2A	c.10922G>A	NM_206933.2	NP_996816.2:p.(Arg3641Lys)	NC_000001.10:g.215953202C>T	(Likely) benign	1 lab	eef0ec0415
18:57106922 CCBE1 C>T	18	57106922	57106922	C	T	CCBE1	c.902G>A	NM_133459.4	NP_597716.1:p.(Arg301Gln)	NC_000018.9:g.57106922C>T	VUS	1 lab	eef286baee
17:8408041 MYH10 C>T	17	8408041	8408041	C	T	MYH10	c.3570G>A	NM_001256012.1	NP_001242941.1:p.(Leu1190=)	NC_000017.10:g.8408041C>T	(Likely) benign	1 lab	eef5367c77
19:50775155 MYH14 C>G	19	50775155	50775155	C	G	MYH14	c.3221C>G	NM_001145809.1	NP_001139281.1:p.(Ala1074Gly)	NC_000019.9:g.50775155C>G	VUS	1 lab	eef5df2a58
10:35897052 GJD4 T>C	10	35897052	35897052	T	C	GJD4	c.611T>C	NM_153368.2	NP_699199.2:p.(Val204Ala)	NC_000010.10:g.35897052T>C	VUS	1 lab	eef7c0afc4
2:232079557 ARMC9 C>T	2	232079557	232079557	C	T	ARMC9	c.191C>T	NM_001271466.3	NP_001258395.1:p.(Ala64Val)	NC_000002.11:g.232079557C>T	(Likely) benign	1 lab	eef7de896c
10:123276915 FGFR2 A>G	10	123276915	123276915	A	G	FGFR2	c.1002T>C	NM_000141.4	NP_000132.3:p.(Phe334=)	NC_000010.10:g.123276915A>G	(Likely) benign	1 lab	eef837690f
4:79385640 FRAS1 C>T	4	79385640	79385640	C	T	FRAS1	c.6932C>T	NM_025074.7	NP_079350.5:p.(Ser2311Leu)	NC_000004.11:g.79385640C>T	VUS	1 lab	eef92179cb
18:28673527 DSC2 C>T	18	28673527	28673527	C	T	DSC2	c.149G>A	NM_004949.3	NP_004940.1:p.(Gly50Asp)	NC_000018.9:g.28673527C>T	VUS	1 lab	eef9219a87
1:237754257 RYR2 T>C	1	237754257	237754257	T	C	RYR2	c.4125T>C	NM_001035.2	NP_001026.2:p.(Asp1375=)	NC_000001.10:g.237754257T>C	(Likely) benign	1 lab	eef989da07
5:127516690 SLC12A2 A>C	5	127516690	127516690	A	C	SLC12A2	c.3212+4A>C	NM_001046.2	NP_001037.1:p.?	NC_000005.9:g.127516690A>C	VUS	1 lab	eef9b01ac2
X:100088284 CSTF2 A>C	X	100088284	100088284	A	C	CSTF2	c.1383A>C	NM_001306206.1	NP_001293135.1:p.(Glu461Asp)	NC_000023.10:g.100088284A>C	VUS	1 lab	eef9f20f15
X:114877726 PLS3 C>T	X	114877726	114877726	C	T	PLS3	c.1050C>T	NM_001282337.1	NP_001269266.1:p.(Pro350=)	NC_000023.10:g.114877726C>T	(Likely) benign	1 lab	eefa1ae185
X:153420181 OPN1LW C>G	X	153420181	153420181	C	G	OPN1LW	c.711C>G	NM_020061.5	NP_064445.2:p.(Leu237=)	NC_000023.10:g.153420181C>G	(Likely) benign	1 lab	eefc8d746e
17:39296679 KRTAP4-6 A>G	17	39296679	39296679	A	G	KRTAP4-6	c.61T>C	NM_030976.1	NP_112238.1:p.(Cys21Arg)	NC_000017.10:g.39296679A>G	(Likely) benign	1 lab	eefda0c3ab
19:41135438 LTBP4 G>A	19	41135438	41135438	G	A	LTBP4	c.4858G>A	NM_001042544.1	NP_001036009.1:p.(Ala1620Thr)	NC_000019.9:g.41135438G>A	(Likely) benign	1 lab	eefeff3fb8
19:48665555 LIG1 G>A	19	48665555	48665555	G	A	LIG1	c.71C>T	NM_001320970.1	NP_001307899.1:p.(Ala24Val)	NC_000019.9:g.48665555G>A	(Likely) benign	1 lab	eeff9612f4
2:170055357 LRP2 A>C	2	170055357	170055357	A	C	LRP2	c.8517T>G	NM_004525.3	NP_004516.2:p.(Val2839=)	NC_000002.11:g.170055357A>C	(Likely) benign	1 lab	eeffbd9e21
X:17750060 NHS AGC>A	X	17750060	17750062	AGC	A	NHS	c.4433_4434del	NM_001291867.2	NP_001278796.1:p.(Ser1478LysfsTer12)	NC_000023.10:g.17750061_17750062del	VUS	1 lab	ef01e7b69b
20:31374380 DNMT3B C>T	20	31374380	31374380	C	T	DNMT3B	c.379C>T	NM_006892.3	NP_008823.1:p.(Arg127Trp)	NC_000020.10:g.31374380C>T	VUS	1 lab	ef02c00816
2:97474415 CNNM4 C>T	2	97474415	97474415	C	T	CNNM4	c.2066C>T	NM_020184.3	NP_064569.3:p.(Ser689Phe)	NC_000002.11:g.97474415C>T	(Likely) benign	1 lab	ef046fd20d
X:123480610 SH2D1A G>A	X	123480610	123480610	G	A	SH2D1A	c.118G>A	NM_002351.4	NP_002342.1:p.(Val40Met)	NC_000023.10:g.123480610G>A	VUS	1 lab	ef04ed4e28
17:29557395 NF1 A>G	17	29557395	29557395	A	G	NF1	c.3108A>G	NM_000267.3	NP_000258.1:p.(Lys1036=)	NC_000017.10:g.29557395A>G	(Likely) benign	1 lab	ef063ad804
14:68191313 RDH12 G>C	14	68191313	68191313	G	C	RDH12	c.187+5G>C	NM_152443.2	NP_689656.2:p.?	NC_000014.8:g.68191313G>C	VUS	1 lab	ef068ae893
15:29561869 NSMCE3 T>G	15	29561869	29561869	T	G	NSMCE3	c.41A>C	NM_138704.3	NP_619649.1:p.(Gln14Pro)	NC_000015.9:g.29561869T>G	VUS	1 lab	ef0a06a65e
19:10464250 TYK2 C>T	19	10464250	10464250	C	T	TYK2	c.2981G>A	NM_003331.4	NP_003322.3:p.(Ser994Asn)	NC_000019.9:g.10464250C>T	(Likely) benign	1 lab	ef0a17ad70
2:170044538 LRP2 C>A	2	170044538	170044538	C	A	LRP2	c.9270G>T	NM_004525.3	NP_004516.2:p.(Met3090Ile)	NC_000002.11:g.170044538C>A	(Likely) benign	1 lab	ef0a41651e
17:73947649 ACOX1 T>C	17	73947649	73947649	T	C	ACOX1	c.840A>G	NM_001185039.1	NP_001171968.1:p.(Glu280=)	NC_000017.10:g.73947649T>C	(Likely) benign	1 lab	ef0b094afa
9:135781440 TSC1 G>A	9	135781440	135781440	G	A	TSC1	c.1525C>T	NM_000368.4	NP_000359.1:p.(Arg509Ter)	NC_000009.11:g.135781440G>A	(Likely) pathogenic	1 lab	ef0b6e7e4a
22:21348560 LZTR1 T>G	22	21348560	21348560	T	G	LZTR1	c.1615+2T>G	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21348560T>G	(Likely) pathogenic	1 lab	ef0bc224ad
16:79633098 MAF T>G	16	79633098	79633098	T	G	MAF	c.702A>C	NM_001031804.2	NP_001026974.1:p.(Gly234=)	NC_000016.9:g.79633098T>G	(Likely) benign	1 lab	ef0bd0a5c1
17:29549308 NF1 G>GT	17	29549308	29549314	G	GT	NF1	c.1721+367dup	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29549314dup	(Likely) benign	1 lab	ef0ccb56f2
14:102901461 TECPR2 G>A	14	102901461	102901461	G	A	TECPR2	c.2307G>A	NM_014844.4	NP_055659.2:p.(Thr769=)	NC_000014.8:g.102901461G>A	(Likely) benign	1 lab	ef0cec7c32
4:17493951 QDPR T>C	4	17493951	17493951	T	C	QDPR	c.449A>G	NM_000320.2	NP_000311.2:p.(Tyr150Cys)	NC_000004.11:g.17493951T>C	(Likely) pathogenic	1 lab	ef0f96bd46
19:5668194 SAFB C>T	19	5668194	5668194	C	T	SAFB	c.2643C>T	NM_001201339.1	NP_001188268.1:p.(Gly881=)	NC_000019.9:g.5668194C>T	VUS	1 lab	ef123a5440
17:29483121 NF1 A>G	17	29483121	29483121	A	G	NF1	c.181A>G	NM_000267.3	NP_000258.1:p.(Ile61Val)	NC_000017.10:g.29483121A>G	(Likely) benign	1 lab	ef128d0c37
17:73759429 GALK1 C>T	17	73759429	73759429	C	T	GALK1	c.447G>A	NM_000154.1	NP_000145.1:p.(Thr149=)	NC_000017.10:g.73759429C>T	(Likely) benign	1 lab	ef13d839a5
18:28923528 DSG1 A>G	18	28923528	28923528	A	G	DSG1	c.1803A>G	NM_001942.3	NP_001933.2:p.(Gly601=)	NC_000018.9:g.28923528A>G	(Likely) benign	1 lab	ef15339b60
X:46951083 RGN G>T	X	46951083	46951083	G	T	RGN	c.569G>T	NM_152869.4	NP_690608.1:p.(Arg190Leu)	NC_000023.10:g.46951083G>T	VUS	1 lab	ef15f311ec
4:128842743 MFSD8 C>T	4	128842743	128842743	C	T	MFSD8	c.1286G>A	NM_152778.2	NP_689991.1:p.(Gly429Asp)	NC_000004.11:g.128842743C>T	VUS	1 lab	ef1641689c
X:129059130 UTP14A C>G	X	129059130	129059130	C	G	UTP14A	c.1708C>G	NM_006649.4	NP_006640.2:p.(Pro570Ala)	NC_000023.10:g.129059130C>G	(Likely) benign	1 lab	ef1678499e
17:29654689 NF1 AC>A	17	29654689	29654691	AC	A	NF1	c.5443del	NM_001042492.3	NP_001035957.1:p.(Gln1815ArgfsTer48)	NC_000017.10:g.29654691del	(Likely) pathogenic	1 lab	ef1c728e10
19:5274309 PTPRS C>T	19	5274309	5274309	C	T	PTPRS	c.138G>A	NM_002850.3	NP_002841.3:p.(Ser46=)	NC_000019.9:g.5274309C>T	(Likely) benign	1 lab	ef1c74ef43
17:29670144 NF1 CT>C	17	29670144	29670148	CT	C	NF1	c.7184del	NM_001042492.3	NP_001035957.1:p.(Leu2395Ter)	NC_000017.10:g.29670148del	(Likely) pathogenic	1 lab	ef1ce973bc
20:57484633 GNAS C>T	20	57484633	57484633	C	T	GNAS	c.2646C>T	NM_080425.3	NP_536350.2:p.(Asn882=)	NC_000020.10:g.57484633C>T	VUS	1 lab	ef1dce42cf
3:123359271 MYLK C>T	3	123359271	123359271	C	T	MYLK	c.4700G>A	NM_053025.3	NP_444253.3:p.(Arg1567Gln)	NC_000003.11:g.123359271C>T	(Likely) benign	1 lab	ef20b8b6e5
7:128486218 FLNC G>A	7	128486218	128486218	G	A	FLNC	c.3964+1G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128486218G>A	(Likely) pathogenic	1 lab	ef20c14702
17:48655555 CACNA1G G>A	17	48655555	48655555	G	A	CACNA1G	c.1931G>A	NM_018896.4	NP_061496.2:p.(Cys644Tyr)	NC_000017.10:g.48655555G>A	VUS	1 lab	ef22960e22
9:117804618 TNC T>C	9	117804618	117804618	T	C	TNC	c.5128A>G	NM_002160.3	NP_002151.2:p.(Met1710Val)	NC_000009.11:g.117804618T>C	(Likely) benign	1 lab	ef23081950
2:241816973 AGXT G>A	2	241816973	241816973	G	A	AGXT	c.866G>A	NM_000030.2	NP_000021.1:p.(Arg289His)	NC_000002.11:g.241816973G>A	(Likely) benign	1 lab	ef240c793f
14:19559113 POTEG A>G	14	19559113	19559113	A	G	POTEG	c.759A>G	NM_001005356.2	NP_001005356.1:p.(Leu253=)	NC_000014.8:g.19559113A>G	(Likely) benign	1 lab	ef25264e0e
21:46929361 COL18A1 G>C	21	46929361	46929361	G	C	COL18A1	c.3332G>C	NM_130445.2	NP_569712.2:p.(Arg1111Pro)	NC_000021.8:g.46929361G>C	VUS	1 lab	ef252b0b52
X:153689826 PLXNA3 C>T	X	153689826	153689826	C	T	PLXNA3	c.982C>T	NM_017514.4	NP_059984.3:p.(Arg328Trp)	NC_000023.10:g.153689826C>T	VUS	1 lab	ef2728ce4b
X:107084302 MID2 G>A	X	107084302	107084302	G	A	MID2	c.407G>A	NM_012216.3	NP_036348.2:p.(Arg136Gln)	NC_000023.10:g.107084302G>A	VUS	1 lab	ef276c28bd
11:110143277 RDX T>C	11	110143277	110143277	T	C	RDX	c.80A>G	NM_002906.3	NP_002897.1:p.(Lys27Arg)	NC_000011.9:g.110143277T>C	(Likely) benign	1 lab	ef279884be
12:40697943 LRRK2 C>T	12	40697943	40697943	C	T	LRRK2	c.3777+7C>T	NM_198578.3	NP_940980.3:p.?	NC_000012.11:g.40697943C>T	(Likely) benign	1 lab	ef27c1804e
14:23855163 MYH6 C>G	14	23855163	23855163	C	G	MYH6	c.5137G>C	NM_002471.3	NP_002462.2:p.(Glu1713Gln)	NC_000014.8:g.23855163C>G	VUS	1 lab	ef27c3769b
12:116450599 MED13L T>C	12	116450599	116450599	T	C	MED13L	c.1280+3A>G	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116450599T>C	VUS	1 lab	ef29342555
19:15288714 NOTCH3 G>T	19	15288714	15288714	G	T	NOTCH3	c.4025C>A	NM_000435.2	NP_000426.2:p.(Ala1342Asp)	NC_000019.9:g.15288714G>T	(Likely) benign	1 lab	ef29a99ef4
9:133948124 LAMC3 G>A	9	133948124	133948124	G	A	LAMC3	c.3319G>A	NM_006059.3	NP_006050.3:p.(Gly1107Arg)	NC_000009.11:g.133948124G>A	(Likely) benign	1 lab	ef29b2f84a
17:1628523 WDR81 C>T	17	1628523	1628523	C	T	WDR81	c.270C>T	NM_001163809.1	NP_001157281.1:p.(Leu90=)	NC_000017.10:g.1628523C>T	(Likely) benign	1 lab	ef2f18d157
2:73830379 LOC126806253 A>G	2	73830379	73830379	A	G	LOC126806253				NC_000002.11:g.73830379A>G	(Likely) benign	1 lab	65209c1f33
7:80301276 CD36 G>GCAAGT	7	80301276	80301282	G	GCAAGT	CD36	c.1047_1051dup	NM_001001548.2	NP_001001548.1:p.(Pro351GlnfsTer12)	NC_000007.13:g.80301278_80301282dup	(Likely) pathogenic	1 lab	ef2f249856
8:118159332 SLC30A8 A>G	8	118159332	118159332	A	G	SLC30A8	c.64A>G	NM_001172813.1	NP_001166284.1:p.(Lys22Glu)	NC_000008.10:g.118159332A>G	(Likely) benign	1 lab	ef2f579505
14:105409854 AHNAK2 G>A	14	105409854	105409854	G	A	AHNAK2	c.11934C>T	NM_138420.3	NP_612429.2:p.(Phe3978=)	NC_000014.8:g.105409854G>A	(Likely) benign	1 lab	ef320cea5f
17:29550464 NF1 C>A	17	29550464	29550464	C	A	NF1	c.1724C>A	NM_000267.3	NP_000258.1:p.(Ser575Ter)	NC_000017.10:g.29550464C>A	(Likely) pathogenic	1 lab	ef326ce847
18:712518 ENOSF1 C>T	18	712518	712518	C	T	ENOSF1	c.70G>A	NM_017512.7	NP_059982.2:p.(Gly24Ser)	NC_000018.9:g.712518C>T	VUS	1 lab	ef338e0c19
11:6650771 DCHS1 G>A	11	6650771	6650771	G	A	DCHS1				NC_000011.9:g.6650771G>A	(Likely) benign	1 lab	ef346114f7
1:53678960 CPT2 T>C	1	53678960	53678960	T	C	CPT2	c.1670T>C	NM_000098.2	NP_000089.1:p.(Phe557Ser)	NC_000001.10:g.53678960T>C	VUS	1 lab	ef347aa99a
17:29508754 NF1 T>C	17	29508754	29508754	T	C	NF1	c.681T>C	NM_000267.3	NP_000258.1:p.(Tyr227=)	NC_000017.10:g.29508754T>C	(Likely) benign	1 lab	ef35669d10
9:134074132 NUP214 A>G	9	134074132	134074132	A	G	NUP214	c.5251A>G	NM_005085.3	NP_005076.3:p.(Ser1751Gly)	NC_000009.11:g.134074132A>G	(Likely) benign	1 lab	ef35fc867f
X:49855363 CLCN5 C>G	X	49855363	49855363	C	G	CLCN5	c.2180C>G	NM_001127899.3	NP_001121371.1:p.(Thr727Ser)	NC_000023.10:g.49855363C>G	(Likely) benign	1 lab	ef38bd08ac
17:79496050 FSCN2 G>A	17	79496050	79496050	G	A	FSCN2	c.493G>A	NM_001077182.2	NP_001070650.1:p.(Gly165Arg)	NC_000017.10:g.79496050G>A	VUS	1 lab	ef3c81db0e
22:32880034 FBXO7 G>T	22	32880034	32880034	G	T	FBXO7	c.568G>T	NM_012179.3	NP_036311.3:p.(Ala190Ser)	NC_000022.10:g.32880034G>T	VUS	1 lab	ef3e3f002d
4:159638302 PPID G>A	4	159638302	159638302	G	A	PPID	c.384C>T	NM_005038.3	NP_005029.1:p.(Asn128=)	NC_000004.11:g.159638302G>A	(Likely) benign	1 lab	ef3eba0e8b
6:33141952 COL11A2 T>G	6	33141952	33141952	T	G	COL11A2	c.2474A>C	NM_080680.2	NP_542411.2:p.(Lys825Thr)	NC_000006.11:g.33141952T>G	VUS	1 lab	ef3efac735
X:132670215 GPC3 G>A	X	132670215	132670215	G	A	GPC3	c.1749C>T	NM_001164617.1	NP_001158089.1:p.(Ser583=)	NC_000023.10:g.132670215G>A	(Likely) benign	1 lab	ef4182159c
19:1495526 REEP6 G>C	19	1495526	1495526	G	C	REEP6	c.268G>C	NM_001329556.2	NP_001316485.1:p.(Val90Leu)	NC_000019.9:g.1495526G>C	(Likely) benign	1 lab	ef42449602
2:232121292 ARMC9 C>T	2	232121292	232121292	C	T	ARMC9	c.880-7C>T	NM_001271466.3	NP_001258395.1:p.?	NC_000002.11:g.232121292C>T	(Likely) benign	1 lab	ef426e06f1
22:26860419 HPS4 G>A	22	26860419	26860419	G	A	HPS4	c.1177C>T	NM_022081.5	NP_071364.4:p.(Pro393Ser)	NC_000022.10:g.26860419G>A	(Likely) benign	1 lab	ef42e88af7
5:13871060 DNAH5 A>G	5	13871060	13871060	A	G	DNAH5	c.3650T>C	NM_001369.2	NP_001360.1:p.(Ile1217Thr)	NC_000005.9:g.13871060A>G	VUS	1 lab	ef4406e4f1
1:13413980 PRAMEF10 G>A	1	13413980	13413980	G	A	PRAMEF10	c.923G>A	NM_001039361.4	NP_001034450.3:p.(Arg308Gln)	NC_000001.10:g.13413980G>A	(Likely) benign	1 lab	ef44384550
6:32810726 PSMB8 G>A	6	32810726	32810726	G	A	PSMB8	c.276C>T	NM_004159.5	NP_004150.1:p.(Ser92=)	NC_000006.11:g.32810726G>A	(Likely) benign	1 lab	ef45d01485
8:11407732 BLK G>A	8	11407732	11407732	G	A	BLK	c.433G>A	NM_001715.2	NP_001706.2:p.(Ala145Thr)	NC_000008.10:g.11407732G>A	(Likely) benign	1 lab	ef482d9601
19:1796745 ATP8B3 G>A	19	1796745	1796745	G	A	ATP8B3	c.1718C>T	NM_138813.3	NP_620168.1:p.(Thr573Met)	NC_000019.9:g.1796745G>A	VUS	1 lab	ef48b6b012
17:10451197 MYH2 G>A	17	10451197	10451197	G	A	MYH2	c.41C>T	NM_001100112.1	NP_001093582.1:p.(Ala14Val)	NC_000017.10:g.10451197G>A	VUS	1 lab	ef48d2206c
17:29588816 NF1 A>AG	17	29588816	29588817	A	AG	NF1	c.4603dup	NM_000267.3	NP_000258.1:p.(Asp1535GlyfsTer8)	NC_000017.10:g.29588817dup	(Likely) pathogenic	1 lab	ef49650ab1
3:108047187 HHLA2 C>T	3	108047187	108047187	C	T	HHLA2	c.37C>T	NM_001282559.1	NP_001269488.1:p.(Leu13Phe)	NC_000003.11:g.108047187C>T	VUS	1 lab	ef4c0084c2
3:133191346 BFSP2 G>A	3	133191346	133191346	G	A	BFSP2	c.1181G>A	NM_003571.3	NP_003562.1:p.(Arg394His)	NC_000003.11:g.133191346G>A	(Likely) benign	1 lab	ef4cd31694
17:62582232 SMURF2 G>A	17	62582232	62582232	G	A	SMURF2	c.457C>T	NM_022739.4	NP_073576.1:p.(Arg153Cys)	NC_000017.10:g.62582232G>A	VUS	1 lab	ef4d131d0c
1:26608825 UBXN11 TGGGGCCG>T	1	26608825	26608834	TGGGGCCG	T	UBXN11	c.1521_1527del	NM_001389556.1	NP_001376485.1:p.(Gly508ValfsTer?)	NC_000001.10:g.26608828_26608834del	(Likely) benign	1 lab	ef4dd6bc67
6:26463722 BTN2A1 C>A	6	26463722	26463722	C	A	BTN2A1	c.681C>A	NM_078476.3	NP_510961.1:p.(Gly227=)	NC_000006.11:g.26463722C>A	(Likely) benign	1 lab	ef4e7627ca
11:119214628 MFRP A>G	11	119214628	119214628	A	G	MFRP	c.1022T>C	NM_031433.3	NP_113621.1:p.(Leu341Pro)	NC_000011.9:g.119214628A>G	VUS	1 lab	ef4e9c7ee4
1:185959498 HMCN1 A>G	1	185959498	185959498	A	G	HMCN1	c.3300A>G	NM_031935.2	NP_114141.2:p.(Pro1100=)	NC_000001.10:g.185959498A>G	(Likely) benign	1 lab	ef4f9aa1b3
2:179588999 TTN C>T	2	179588999	179588999	C	T	TTN	c.21103G>A	NM_001267550.1	NP_001254479.1:p.(Val7035Ile)	NC_000002.11:g.179588999C>T	VUS	1 lab	ef4f9e8a94
3:138666298 FOXL2NB G>C	3	138666298	138666298	G	C	FOXL2NB	c.92G>C	NM_001040061.2	NP_001035150.1:p.(Arg31Pro)	NC_000003.11:g.138666298G>C	VUS	1 lab	ef509c1235
X:135326915 MAP7D3 GTCTT>G	X	135326915	135326928	GTCTT	G	MAP7D3	c.289_292del	NM_024597.4	NP_078873.2:p.(Lys97ProfsTer16)	NC_000023.10:g.135326925_135326928del	VUS	1 lab	ef51eab4fe
22:43603589 SCUBE1 A>G	22	43603589	43603589	A	G	SCUBE1	c.2765T>C	NM_173050.3	NP_766638.2:p.(Val922Ala)	NC_000022.10:g.43603589A>G	VUS	1 lab	ef52933f8f
9:96051695 WNK2 C>T	9	96051695	96051695	C	T	WNK2	c.4770C>T	NM_001282394.1	NP_001269323.1:p.(Asp1590=)	NC_000009.11:g.96051695C>T	(Likely) benign	1 lab	ef52bd9536
19:11102003 SMARCA4 C>T	19	11102003	11102003	C	T	SMARCA4	c.1419+4C>T	NM_001128844.1	NP_001122316.1:p.?	NC_000019.9:g.11102003C>T	(Likely) benign	1 lab	ef56c11136
5:82816781 VCAN A>G	5	82816781	82816781	A	G	VCAN	c.2656A>G	NM_004385.4	NP_004376.2:p.(Thr886Ala)	NC_000005.9:g.82816781A>G	VUS	1 lab	ef587be3cc
21:34924118 SON A>G	21	34924118	34924118	A	G	SON	c.2581A>G	NM_138927.2	NP_620305.2:p.(Met861Val)	NC_000021.8:g.34924118A>G	(Likely) benign	1 lab	ef58af091a
X:152960592 SLC6A8 G>C	X	152960592	152960592	G	C	SLC6A8	c.1831G>C	NM_005629.3	NP_005620.1:p.(Ala611Pro)	NC_000023.10:g.152960592G>C	(Likely) benign	1 lab	ef59f419a9
17:29533384 NF1 GC>G	17	29533384	29533385	GC	G	NF1	c.1388del	NM_001042492.3	NP_001035957.1:p.(Ala463AspfsTer10)	NC_000017.10:g.29533385del	(Likely) pathogenic	1 lab	ef5ab36e0a
22:25603079 CRYBB3 G>A	22	25603079	25603079	G	A	CRYBB3	c.536G>A	NM_004076.4	NP_004067.1:p.(Arg179His)	NC_000022.10:g.25603079G>A	VUS	1 lab	ef5c85c5b7
7:75608804 POR G>A	7	75608804	75608804	G	A	POR	c.273G>A	NM_000941.2	NP_000932.3:p.(Thr91=)	NC_000007.13:g.75608804G>A	(Likely) benign	1 lab	ef5ca578d1
16:57957189 CNGB1 G>A	16	57957189	57957189	G	A	CNGB1	c.1631C>T	NM_001297.4	NP_001288.3:p.(Pro544Leu)	NC_000016.9:g.57957189G>A	VUS	1 lab	ef5dc9cdd9
X:2778008 GYG2 G>A	X	2778008	2778008	G	A	GYG2	c.832G>A	NM_003918.2	NP_003909.2:p.(Ala278Thr)	NC_000023.10:g.2778008G>A	(Likely) benign	1 lab	ef5e8c452c
22:40807495 MRTFA C>T	22	40807495	40807495	C	T	MRTFA	c.2800G>A	NM_001318139.1	NP_001305068.1:p.(Val934Met)	NC_000022.10:g.40807495C>T	VUS	1 lab	ef5f6d9306
19:1467446 APC2 G>A	19	1467446	1467446	G	A	APC2	c.4146G>A	NM_005883.2	NP_005874.1:p.(Pro1382=)	NC_000019.9:g.1467446G>A	(Likely) benign	1 lab	ef607618ae
19:10472199 TYK2 G>A	19	10472199	10472199	G	A	TYK2	c.2035C>T	NM_003331.4	NP_003322.3:p.(Arg679Cys)	NC_000019.9:g.10472199G>A	(Likely) benign	1 lab	ef6126c5c7
2:242430551 FARP2 G>A	2	242430551	242430551	G	A	FARP2	c.2580G>A	NM_014808.4	NP_055623.1:p.(Thr860=)	NC_000002.11:g.242430551G>A	(Likely) benign	1 lab	ef6365513e
19:12989275 DNASE2 G>A	19	12989275	12989275	G	A	DNASE2	c.630C>T	NM_001375.3	NP_001366.1:p.(Pro210=)	NC_000019.9:g.12989275G>A	(Likely) benign	1 lab	ef6417a231
17:56056604 VEZF1 TTGCTGCTGCTGCTGCTGC>T	17	56056604	56056644	TTGCTGCTGCTGCTGCTGC	T	VEZF1	c.1029_1046del	NM_007146.3	NP_009077.2:p.(Gln349_Gln354del)	NC_000017.10:g.56056627_56056644del	(Likely) benign	1 lab	ef64705642
2:233721516 GIGYF2 T>C	2	233721516	233721516	T	C	GIGYF2	c.3846T>C	NM_015575.3	NP_056390.2:p.(Asn1282=)	NC_000002.11:g.233721516T>C	(Likely) benign	1 lab	ef64d31f57
11:69633656 FGF3 AG>A	11	69633656	69633657	AG	A	FGF3	c.45del	NM_005247.4	NP_005238.1:p.(Trp16GlyfsTer63)	NC_000011.9:g.69633657del	(Likely) pathogenic	1 lab	ef6690810e
14:21058816 RNASE12 CTG>C	14	21058816	21058818	CTG	C	RNASE12	c.65_66del	NM_001024822.4	NP_001019993.1:p.(Ala22GlyfsTer16)	NC_000014.8:g.21058817_21058818del	VUS	1 lab	ef67aa9c61
X:15826386 ZRSR2 G>A	X	15826386	15826386	G	A	ZRSR2	c.430G>A	NM_005089.3	NP_005080.1:p.(Glu144Lys)	NC_000023.10:g.15826386G>A	VUS	1 lab	ef6853ed43
5:90449188 ADGRV1 G>T	5	90449188	90449188	G	T	ADGRV1	c.18775G>T	NM_032119.4	NP_115495.3:p.(Asp6259Tyr)	NC_000005.9:g.90449188G>T	VUS	1 lab	ef6a126920
19:33882302 PEPD C>T	19	33882302	33882302	C	T	PEPD	c.1051G>A	NM_000285.3	NP_000276.2:p.(Val351Met)	NC_000019.9:g.33882302C>T	VUS	1 lab	ef6a41c230
9:99064296 HSD17B3 C>T	9	99064296	99064296	C	T	HSD17B3	c.91G>A	NM_000197.2	NP_000188.1:p.(Val31Ile)	NC_000009.11:g.99064296C>T	(Likely) benign	1 lab	ef6a5627f7
18:77246367 NFATC1 C>A	18	77246367	77246367	C	A	NFATC1	c.2212C>A	NM_001278669.1	NP_001265598.1:p.(Pro738Thr)	NC_000018.9:g.77246367C>A	(Likely) benign	1 lab	ef6cc127da
22:21347210 LZTR1 C>A	22	21347210	21347210	C	A	LZTR1	c.1260+17C>A	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21347210C>A	(Likely) benign	1 lab	ef6d158238
19:36592627 WDR62 G>A	19	36592627	36592627	G	A	WDR62	c.3033G>A	NM_001083961.1	NP_001077430.1:p.(Pro1011=)	NC_000019.9:g.36592627G>A	(Likely) benign	1 lab	ef6dc7a65c
5:89979676 ADGRV1 A>AT	5	89979676	89979682	A	AT	ADGRV1	c.5944dup	NM_032119.4	NP_115495.3:p.(Ser1982PhefsTer2)	NC_000005.9:g.89979682dup	(Likely) pathogenic	1 lab	ef6f94b2a4
3:45972696 FYCO1 G>C	3	45972696	45972696	G	C	FYCO1	c.4118C>G	NM_024513.3	NP_078789.2:p.(Thr1373Ser)	NC_000003.11:g.45972696G>C	VUS	1 lab	ef70137821
19:3733848 TJP3 G>A	19	3733848	3733848	G	A	TJP3	c.815G>A	NM_001267560.2	NP_001254489.1:p.(Arg272His)	NC_000019.9:g.3733848G>A	(Likely) benign	1 lab	ef7024bef9
10:91162577 IFIT1 C>T	10	91162577	91162577	C	T	IFIT1	c.452C>T	NM_001270930.1	NP_001257859.1:p.(Ala151Val)	NC_000010.10:g.91162577C>T	VUS	1 lab	ef714ab0fd
7:48018023 HUS1 G>C	7	48018023	48018023	G	C	HUS1	c.348C>G	NM_004507.4	NP_004498.1:p.(Ser116=)	NC_000007.13:g.48018023G>C	(Likely) benign	1 lab	ef7151b935
19:45996511 RTN2 TA>T	19	45996511	45996512	TA	T	RTN2	c.939del	NM_005619.5	NP_005610.1:p.(Thr314LeufsTer8)	NC_000019.9:g.45996512del	(Likely) pathogenic	1 lab	ef7153ae1d
17:29562684 NF1 A>G	17	29562684	29562684	A	G	NF1	c.3764A>G	NM_000267.3	NP_000258.1:p.(Gln1255Arg)	NC_000017.10:g.29562684A>G	(Likely) pathogenic	1 lab	ef72a6f137
8:106814943 ZFPM2 C>T	8	106814943	106814943	C	T	ZFPM2	c.2633C>T	NM_012082.3	NP_036214.2:p.(Pro878Leu)	NC_000008.10:g.106814943C>T	VUS	1 lab	ef73be1227
16:88505407 ZNF469 G>GC	16	88505407	88505414	G	GC	ZNF469	c.11536dup	NM_001367624.1	NP_001354553.1:p.(Arg3846ProfsTer70)	NC_000016.9:g.88505414dup	VUS	1 lab	ef75c74862
6:167709627 UNC93A C>T	6	167709627	167709627	C	T	UNC93A	c.377C>T	NM_018974.4	NP_061847.2:p.(Ala126Val)	NC_000006.11:g.167709627C>T	VUS	1 lab	ef760bd15f
1:183513542 SMG7 C>T	1	183513542	183513542	C	T	SMG7	c.1846C>T	NM_001331007.1	NP_001317936.1:p.(Pro616Ser)	NC_000001.10:g.183513542C>T	VUS	1 lab	ef77a23efb
2:170013975 LRP2 G>A	2	170013975	170013975	G	A	LRP2	c.11925C>T	NM_004525.3	NP_004516.2:p.(Cys3975=)	NC_000002.11:g.170013975G>A	(Likely) benign	1 lab	ef77d358c4
2:15615979 NBAS T>C	2	15615979	15615979	T	C	NBAS	c.1173A>G	NM_015909.3	NP_056993.2:p.(Ile391Met)	NC_000002.11:g.15615979T>C	VUS	1 lab	ef77ec5b81
2:204735432 CTLA4 ACAGCCAGGTGACTGAAGTCTGTGCGGCAACCTACATGATGGGGAATGAGTTGACCTTCCTAGAT>A	2	204735432	204735496	ACAGCCAGGTGACTGAAGTCTGTGCGGCAACCTACATGATGGGGAATGAGTTGACCTTCCTAGAT	A	CTLA4	c.234_297del	NM_005214.5	NP_005205.2:p.(Asp78GlufsTer14)	NC_000002.11:g.204735433_204735496del	VUS	1 lab	ef79185cc3
22:19137617 GSC2 C>G	22	19137617	19137617	C	G	GSC2	c.180G>C	NM_005315.1	NP_005306.1:p.(Glu60Asp)	NC_000022.10:g.19137617C>G	VUS	1 lab	ef7a31b163
6:43152344 CUL9 G>A	6	43152344	43152344	G	A	CUL9	c.296G>A	NM_015089.4	NP_055904.1:p.(Ser99Asn)	NC_000006.11:g.43152344G>A	(Likely) benign	1 lab	ef7bbf4240
4:56212626 SRD5A3 G>A	4	56212626	56212626	G	A	SRD5A3	c.123G>A	NM_024592.4	NP_078868.1:p.(Pro41=)	NC_000004.11:g.56212626G>A	(Likely) benign	1 lab	ef7bf0bcaa
15:48551449 SLC12A1 G>A	15	48551449	48551449	G	A	SLC12A1	c.2095G>A	NM_000338.2	NP_000329.2:p.(Asp699Asn)	NC_000015.9:g.48551449G>A	(Likely) benign	1 lab	ef7cd6e2bb
19:7707169 STXBP2 G>A	19	7707169	7707169	G	A	STXBP2	c.777G>A	NM_001272034.1	NP_001258963.1:p.(Thr259=)	NC_000019.9:g.7707169G>A	(Likely) benign	1 lab	ef7e511478
3:184076786 CLCN2 C>T	3	184076786	184076786	C	T	CLCN2	c.197G>A	NM_004366.5	NP_004357.3:p.(Arg66Gln)	NC_000003.11:g.184076786C>T	(Likely) benign	1 lab	ef7f5cbc25
9:6645460 GLDC G>T	9	6645460	6645460	G	T	GLDC	c.40C>A	NM_000170.2	NP_000161.2:p.(Arg14Ser)	NC_000009.11:g.6645460G>T	(Likely) benign	1 lab	ef7f95c423
X:54956384 TRO G>A	X	54956384	54956384	G	A	TRO	c.3227G>A	NM_001039705.2	NP_001034794.1:p.(Ser1076Asn)	NC_000023.10:g.54956384G>A	VUS	1 lab	ef7fbcf44b
13:39438423 FREM2 G>T	13	39438423	39438423	G	T	FREM2	c.7663G>T	NM_207361.5	NP_997244.4:p.(Val2555Leu)	NC_000013.10:g.39438423G>T	VUS	1 lab	ef82c5e99e
1:169528445 F5 G>C	1	169528445	169528445	G	C	F5	c.676C>G	NM_000130.4	NP_000121.2:p.(Gln226Glu)	NC_000001.10:g.169528445G>C	(Likely) benign	1 lab	ef830133d4
1:103481263 COL11A1 A>G	1	103481263	103481263	A	G	COL11A1	c.1485T>C	NM_080629.2	NP_542196.2:p.(Asp495=)	NC_000001.10:g.103481263A>G	(Likely) benign	1 lab	ef83740582
12:49426734 KMT2D C>A	12	49426734	49426734	C	A	KMT2D	c.11754G>T	NM_003482.3	NP_003473.3:p.(Gln3918His)	NC_000012.11:g.49426734C>A	VUS	1 lab	ef8487ed27
12:80760369 OTOGL A>G	12	80760369	80760369	A	G	OTOGL	c.6256A>G	NM_173591.3	NP_775862.3:p.(Ile2086Val)	NC_000012.11:g.80760369A>G	(Likely) benign	1 lab	ef86582baa
13:114776705 RASA3 G>A	13	114776705	114776705	G	A	RASA3	c.383C>T	NM_001320821.1	NP_001307750.1:p.(Thr128Met)	NC_000013.10:g.114776705G>A	VUS	1 lab	ef888ba33c
X:21874871 YY2 A>G	X	21874871	21874871	A	G	YY2	c.269A>G	NM_206923.3	NP_996806.2:p.(Tyr90Cys)	NC_000023.10:g.21874871A>G	(Likely) benign	1 lab	ef89b69490
7:151859523 KMT2C G>A	7	151859523	151859523	G	A	KMT2C	c.11139C>T	NM_170606.2	NP_733751.2:p.(Ala3713=)	NC_000007.13:g.151859523G>A	(Likely) benign	1 lab	ef8a5b04ee
2:145157303 ZEB2 G>A	2	145157303	145157303	G	A	ZEB2	c.1451C>T	NM_014795.3	NP_055610.1:p.(Ser484Leu)	NC_000002.11:g.145157303G>A	VUS	1 lab	ef8a7f6fcb
5:56177848 MAP3K1 T>TCAA	5	56177848	56177874	T	TCAA	MAP3K1	c.2845_2847dup	NM_005921.1	NP_005912.1:p.(Thr949dup)	NC_000005.9:g.56177872_56177874dup	(Likely) benign	1 lab	ef8af1670c
16:74774021 FA2H G>T	16	74774021	74774021	G	T	FA2H	c.271-8C>A	NM_024306.4	NP_077282.3:p.?	NC_000016.9:g.74774021G>T	(Likely) benign	1 lab	ef8e8020db
13:20797509 GJB6 C>T	13	20797509	20797509	C	T	GJB6	c.111G>A	NM_001110219.3	NP_001103689.1:p.(Val37=)	NC_000013.10:g.20797509C>T	(Likely) benign	1 lab	ef8fb8c3cf
12:103238319 PAH GTGTCTA>G	12	103238319	103238333	GTGTCTA	G	PAH	c.970-116_970-111del	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103238328_103238333del	(Likely) benign	1 lab	ef914f06e3
18:29098229 DSG2 C>T	18	29098229	29098229	C	T	DSG2	c.73C>T	NM_001943.3	NP_001934.2:p.(His25Tyr)	NC_000018.9:g.29098229C>T	VUS	1 lab	ef91d1dc48
21:19666639 TMPRSS15 C>T	21	19666639	19666639	C	T	TMPRSS15	c.2434G>A	NM_002772.2	NP_002763.2:p.(Ala812Thr)	NC_000021.8:g.19666639C>T	VUS	1 lab	ef91e1a7df
11:57578951 CTNND1 A>G	11	57578951	57578951	A	G	CTNND1	c.2631A>G	NM_001085458.1	NP_001078927.1:p.(Gln877=)	NC_000011.9:g.57578951A>G	(Likely) benign	1 lab	ef91e2569a
X:48761989 SLC35A2 C>T	X	48761989	48761989	C	T	SLC35A2	c.607G>A	NM_001032289.2	NP_001027460.1:p.(Gly203Arg)	NC_000023.10:g.48761989C>T	(Likely) benign	1 lab	ef92277439
20:31023133 ASXL1 C>T	20	31023133	31023133	C	T	ASXL1	c.2618C>T	NM_015338.5	NP_056153.2:p.(Pro873Leu)	NC_000020.10:g.31023133C>T	(Likely) benign	1 lab	ef9289c8bf
19:1043464 ABCA7 A>C	19	1043464	1043464	A	C	ABCA7	c.922A>C	NM_019112.3	NP_061985.2:p.(Met308Leu)	NC_000019.9:g.1043464A>C	(Likely) benign	1 lab	ef94d2d0c4
9:34372447 MYORG CT>C	9	34372447	34372448	CT	C	MYORG	c.494del	NM_020702.5	NP_065753.2:p.(Glu165GlyfsTer27)	NC_000009.11:g.34372448del	VUS	1 lab	ef95c57a1a
5:36972109 NIPBL A>G	5	36972109	36972109	A	G	NIPBL	c.834A>G	NM_015384.4	NP_056199.2:p.(Val278=)	NC_000005.9:g.36972109A>G	(Likely) benign	1 lab	ef9608cb7f
12:49432599 KMT2D C>T	12	49432599	49432599	C	T	KMT2D	c.8540G>A	NM_003482.3	NP_003473.3:p.(Arg2847His)	NC_000012.11:g.49432599C>T	VUS	1 lab	ef984b24d2
3:52392595 DNAH1 G>A	3	52392595	52392595	G	A	DNAH1	c.4108G>A	NM_015512.4	NP_056327.4:p.(Glu1370Lys)	NC_000003.11:g.52392595G>A	(Likely) benign	1 lab	ef989bf296
1:198698308 PTPRC T>C	1	198698308	198698308	T	C	PTPRC	c.1864+8T>C	NM_002838.4	NP_002829.3:p.?	NC_000001.10:g.198698308T>C	(Likely) benign	1 lab	ef98aa5471
X:73964045 NEXMIF T>C	X	73964045	73964045	T	C	NEXMIF	c.347A>G	NM_001008537.2	NP_001008537.1:p.(Asn116Ser)	NC_000023.10:g.73964045T>C	(Likely) benign	1 lab	ef9ba18663
15:48713770 FBN1 C>A	15	48713770	48713770	C	A	FBN1	c.7684G>T	NM_000138.4	NP_000129.3:p.(Gly2562Cys)	NC_000015.9:g.48713770C>A	(Likely) pathogenic	1 lab	ef9cd3c9c6
14:105415698 AHNAK2 G>A	14	105415698	105415698	G	A	AHNAK2	c.6090C>T	NM_138420.3	NP_612429.2:p.(Asp2030=)	NC_000014.8:g.105415698G>A	(Likely) benign	1 lab	ef9d19d727
2:237123126 ASB18 G>T	2	237123126	237123126	G	T	ASB18	c.980C>A	NM_212556.3	NP_997721.2:p.(Ala327Asp)	NC_000002.11:g.237123126G>T	VUS	1 lab	ef9de5e7e1
10:55663056 PCDH15 T>C	10	55663056	55663056	T	C	PCDH15				NC_000010.10:g.55663056T>C	VUS	1 lab	ef9e31f900
9:33120539 B4GALT1 G>C	9	33120539	33120539	G	C	B4GALT1	c.714C>G	NM_001497.3	NP_001488.2:p.(Asp238Glu)	NC_000009.11:g.33120539G>C	(Likely) benign	1 lab	ef9e56abe7
16:16272736 ABCC6 G>T	16	16272736	16272736	G	T	ABCC6	c.2334C>A	NM_001171.5	NP_001162.4:p.(Asp778Glu)	NC_000016.9:g.16272736G>T	VUS	1 lab	ef9f45ef90
16:5128902 ALG1 T>C	16	5128902	5128902	T	C	ALG1	c.862+23T>C	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5128902T>C	(Likely) benign	1 lab	efa033b217
19:16590009 CALR3 A>T	19	16590009	16590009	A	T	CALR3	c.1088T>A	NM_145046.4	NP_659483.2:p.(Leu363Gln)	NC_000019.9:g.16590009A>T	(Likely) benign	1 lab	efa03f3ffe
10:76789862 KAT6B G>A	10	76789862	76789862	G	A	KAT6B	c.5280G>A	NM_012330.3	NP_036462.2:p.(Pro1760=)	NC_000010.10:g.76789862G>A	(Likely) benign	1 lab	efa072b149
7:86526917 ELAPOR2 T>C	7	86526917	86526917	T	C	ELAPOR2	c.2590A>G	NM_001142749.3	NP_001136221.1:p.(Thr864Ala)	NC_000007.13:g.86526917T>C	VUS	1 lab	efa2f96b8d
5:178413410 GRM6 G>A	5	178413410	178413410	G	A	GRM6	c.1845C>T	NM_000843.4	NP_000834.2:p.(Ile615=)	NC_000005.9:g.178413410G>A	(Likely) benign	1 lab	efa82cc924
7:27825011 TAX1BP1 A>G	7	27825011	27825011	A	G	TAX1BP1	c.762-7A>G	NM_006024.6	NP_006015.4:p.?	NC_000007.13:g.27825011A>G	(Likely) benign	1 lab	efaa8e2bd3
9:140450043 DPH7 T>C	9	140450043	140450043	T	C	DPH7	c.479A>G	NM_001346386.1	NP_001333315.1:p.(Tyr160Cys)	NC_000009.11:g.140450043T>C	VUS	1 lab	efaa9e5d8e
19:39412216 SARS2 T>C	19	39412216	39412216	T	C	SARS2	c.491A>G	NM_001145901.1	NP_001139373.1:p.(Gln164Arg)	NC_000019.9:g.39412216T>C	(Likely) benign	1 lab	efaaf8c80c
12:124221700 ATP6V0A2 C>G	12	124221700	124221700	C	G	ATP6V0A2	c.920C>G	NM_012463.3	NP_036595.2:p.(Ala307Gly)	NC_000012.11:g.124221700C>G	VUS	1 lab	efac236376
20:49518564 ADNP G>A	20	49518564	49518564	G	A	ADNP	c.191C>T	NM_001282531.2	NP_001269460.1:p.(Thr64Met)	NC_000020.10:g.49518564G>A	VUS	1 lab	efacdafc2c
10:71151990 HK1 C>T	10	71151990	71151990	C	T	HK1	c.2250C>T	NM_001322365.1	NP_001309294.1:p.(Asn750=)	NC_000010.10:g.71151990C>T	(Likely) benign	1 lab	efad2280ad
17:1629975 WDR81 C>T	17	1629975	1629975	C	T	WDR81	c.1722C>T	NM_001163809.1	NP_001157281.1:p.(His574=)	NC_000017.10:g.1629975C>T	(Likely) benign	1 lab	efad750adf
15:48736750 FBN1 C>T	15	48736750	48736750	C	T	FBN1	c.6025G>A	NM_000138.4	NP_000129.3:p.(Glu2009Lys)	NC_000015.9:g.48736750C>T	VUS	1 lab	efae407177
5:89990041 ADGRV1 G>A	5	89990041	89990041	G	A	ADGRV1	c.7468G>A	NM_032119.4	NP_115495.3:p.(Ala2490Thr)	NC_000005.9:g.89990041G>A	VUS	1 lab	efaf6dd8da
12:133350799 GOLGA3 C>T	12	133350799	133350799	C	T	GOLGA3	c.4251G>A	NM_005895.3	NP_005886.2:p.(Pro1417=)	NC_000012.11:g.133350799C>T	(Likely) benign	1 lab	efb069022c
4:94006263 GRID2 G>T	4	94006263	94006263	G	T	GRID2	c.362G>T	NM_001510.3	NP_001501.2:p.(Arg121Leu)	NC_000004.11:g.94006263G>T	VUS	1 lab	efb0be86fa
10:26457784 MYO3A C>T	10	26457784	26457784	C	T	MYO3A	c.3255C>T	NM_017433.5	NP_059129.3:p.(Ser1085=)	NC_000010.10:g.26457784C>T	(Likely) benign	1 lab	efb0f78c77
8:72127764 EYA1 C>A	8	72127764	72127764	C	A	EYA1	c.1476-21G>T	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72127764C>A	(Likely) benign	1 lab	efb0fd101b
3:184044405 EIF4G1 C>A	3	184044405	184044405	C	A	EIF4G1	c.3316C>A	NM_182917.4	NP_886553.3:p.(Pro1106Thr)	NC_000003.11:g.184044405C>A	VUS	1 lab	efb14fdff3
16:3645622 SLX4 CT>C	16	3645622	3645623	CT	C	SLX4	c.1996del	NM_032444.4	NP_115820.2:p.(Arg666GlyfsTer25)	NC_000016.9:g.3645623del	(Likely) pathogenic	1 lab	efb1c5e73f
9:101891069 TGFBR1 A>AG	9	101891069	101891070	A	AG	TGFBR1	c.98-67dup	NM_004612.3	NP_004603.1:p.?	NC_000009.11:g.101891070dup	VUS	1 lab	efb1cce8d0
17:37866133 ERBB2 C>G	17	37866133	37866133	C	G	ERBB2	c.597C>G	NM_001289936.1	NP_001276865.1:p.(Ser199Arg)	NC_000017.10:g.37866133C>G	(Likely) benign	1 lab	efb3871c66
2:179453885 TTN T>C	2	179453885	179453885	T	C	TTN	c.62567A>G	NM_001267550.1	NP_001254479.1:p.(Tyr20856Cys)	NC_000002.11:g.179453885T>C	VUS	1 lab	efb3faae74
X:135732500 CD40LG T>C	X	135732500	135732500	T	C	CD40LG	c.232T>C	NM_000074.2	NP_000065.1:p.(Ser78Pro)	NC_000023.10:g.135732500T>C	(Likely) benign	1 lab	efb43ca271
20:42252647 IFT52 C>A	20	42252647	42252647	C	A	IFT52	c.357C>A	NM_001323578.1	NP_001310507.1:p.(Ile119=)	NC_000020.10:g.42252647C>A	(Likely) benign	1 lab	efb5b2f4dc
X:70587965 TAF1 T>C	X	70587965	70587965	T	C	TAF1	c.357T>C	NM_001286074.1	NP_001273003.1:p.(Asp119=)	NC_000023.10:g.70587965T>C	(Likely) benign	1 lab	efb6f0903b
5:44388729 FGF10 CA>C	5	44388729	44388730	CA	C	FGF10	c.55del	NM_004465.2	NP_004456.1:p.(Cys19AlafsTer95)	NC_000005.9:g.44388730del	(Likely) pathogenic	1 lab	efb79a823f
22:19754117 TBX1 C>T	22	19754117	19754117	C	T	TBX1	c.1215C>T	NM_080647.1	NP_542378.1:p.(Pro405=)	NC_000022.10:g.19754117C>T	(Likely) benign	1 lab	efb9899f7f
3:50655053 MAPKAPK3 C>G	3	50655053	50655053	C	G	MAPKAPK3	c.57C>G	NM_001243926.1	NP_001230855.1:p.(Pro19=)	NC_000003.11:g.50655053C>G	(Likely) benign	1 lab	efbb360bae
X:123680731 TENM1 C>T	X	123680731	123680731	C	T	TENM1	c.2644G>A	NM_001163278.1	NP_001156750.1:p.(Asp882Asn)	NC_000023.10:g.123680731C>T	(Likely) benign	1 lab	efbc05d2b7
X:64743955 LAS1L G>A	X	64743955	64743955	G	A	LAS1L	c.1281C>T	NM_031206.4	NP_112483.1:p.(Ile427=)	NC_000023.10:g.64743955G>A	(Likely) benign	1 lab	efbe46b2fd
X:77268448 ATP7A C>T	X	77268448	77268448	C	T	ATP7A	c.2245C>T	NM_000052.6	NP_000043.4:p.(Leu749=)	NC_000023.10:g.77268448C>T	(Likely) benign	1 lab	efbe7961af
X:140993801 MAGEC1 G>C	X	140993801	140993801	G	C	MAGEC1	c.611G>C	NM_005462.4	NP_005453.2:p.(Arg204Pro)	NC_000023.10:g.140993801G>C	(Likely) benign	1 lab	efbe8c8988
4:184600605 TRAPPC11 C>G	4	184600605	184600605	C	G	TRAPPC11	c.931C>G	NM_021942.5	NP_068761.4:p.(Leu311Val)	NC_000004.11:g.184600605C>G	VUS	1 lab	efbeafbf1d
15:85400998 ALPK3 C>T	15	85400998	85400998	C	T	ALPK3	c.3635C>T	NM_020778.4	NP_065829.3:p.(Thr1212Ile)	NC_000015.9:g.85400998C>T	VUS	1 lab	efbfe2278d
1:181701978 MISSING G>A	1	181701978	181701978	G	A	MISSING				NC_000001.10:g.181701978G>A	(Likely) benign	1 lab	efc044558c
17:7662200 DNAH2 T>C	17	7662200	7662200	T	C	DNAH2	c.2209-3T>C	NM_020877.3	NP_065928.2:p.?	NC_000017.10:g.7662200T>C	(Likely) benign	1 lab	efc3308856
1:216538375 USH2A G>A	1	216538375	216538375	G	A	USH2A	c.704C>T	NM_206933.2	NP_996816.2:p.(Thr235Ile)	NC_000001.10:g.216538375G>A	VUS	1 lab	efc33b552f
4:85704108 WDFY3 C>A	4	85704108	85704108	C	A	WDFY3	c.4174+8G>T	NM_014991.4	NP_055806.2:p.?	NC_000004.11:g.85704108C>A	(Likely) benign	1 lab	efc6a0b8cc
14:23892852 MYH7 C>T	14	23892852	23892852	C	T	MYH7	c.3003G>A	NM_000257.2	NP_000248.2:p.(Glu1001=)	NC_000014.8:g.23892852C>T	(Likely) benign	1 lab	efc73ee7e5
17:41246211 BRCA1 C>G	17	41246211	41246211	C	G	BRCA1	c.1337G>C	NM_007294.3	NP_009225.1:p.(Arg446Thr)	NC_000017.10:g.41246211C>G	(Likely) benign	1 lab	efca9bab8d
8:22273278 SLC39A14 C>A	8	22273278	22273278	C	A	SLC39A14	c.751-4C>A	NM_001135153.2	NP_001128625.1:p.?	NC_000008.10:g.22273278C>A	(Likely) benign	1 lab	efcbbf55a3
1:235972289 LYST T>A	1	235972289	235972289	T	A	LYST	c.1829A>T	NM_001301365.1	NP_001288294.1:p.(His610Leu)	NC_000001.10:g.235972289T>A	VUS	1 lab	efcd881604
11:103040839 DYNC2H1 T>C	11	103040839	103040839	T	C	DYNC2H1	c.4971T>C	NM_001080463.1	NP_001073932.1:p.(Gly1657=)	NC_000011.9:g.103040839T>C	(Likely) benign	1 lab	efcdaec06d
14:23900808 MYH7 TGTC>T	14	23900808	23900813	TGTC	T	MYH7	c.715_717del	NM_000257.4	NP_000248.2:p.(Asp239del)	NC_000014.8:g.23900811_23900813del	(Likely) pathogenic	1 lab	efd165851b
X:24833183 POLA1 T>C	X	24833183	24833183	T	C	POLA1	c.3366T>C	NM_016937.3	NP_058633.2:p.(Asn1122=)	NC_000023.10:g.24833183T>C	(Likely) benign	1 lab	efd351741d
13:111164367 COL4A2 C>T	13	111164367	111164367	C	T	COL4A2	c.4968C>T	NM_001846.3	NP_001837.2:p.(Ile1656=)	NC_000013.10:g.111164367C>T	(Likely) benign	1 lab	efd49aa65f
6:108365995 OSTM1 TG>T	6	108365995	108365996	TG	T	OSTM1	c.998del	NM_014028.4	NP_054747.2:p.(Ser333Ter)	NC_000006.11:g.108365996del	VUS	1 lab	efd4ad593a
17:7950393 ALOX15B C>T	17	7950393	7950393	C	T	ALOX15B	c.1456C>T	NM_001141.2	NP_001132.2:p.(Arg486Cys)	NC_000017.10:g.7950393C>T	VUS	1 lab	efd53b2646
13:52518337 ATP7B G>A	13	52518337	52518337	G	A	ATP7B	c.3151C>T	NM_000053.3	NP_000044.2:p.(Leu1051=)	NC_000013.10:g.52518337G>A	(Likely) benign	1 lab	efd56374f7
1:97771751 DPYD C>T	1	97771751	97771751	C	T	DPYD	c.2161G>A	NM_000110.3	NP_000101.2:p.(Ala721Thr)	NC_000001.10:g.97771751C>T	VUS	1 lab	efd578b7eb
18:56204644 ALPK2 T>G	18	56204644	56204644	T	G	ALPK2	c.2775A>C	NM_052947.4	NP_443179.3:p.(Val925=)	NC_000018.9:g.56204644T>G	(Likely) benign	1 lab	efd5e1d129
1:236180504 NID1 G>T	1	236180504	236180504	G	T	NID1	c.2198C>A	NM_002508.2	NP_002499.2:p.(Thr733Asn)	NC_000001.10:g.236180504G>T	VUS	1 lab	efd6f3fd25
12:57587791 LRP1 C>T	12	57587791	57587791	C	T	LRP1	c.7914C>T	NM_002332.2	NP_002323.2:p.(Asn2638=)	NC_000012.11:g.57587791C>T	(Likely) benign	1 lab	efd6f829a8
12:14766058 GUCY2C T>C	12	14766058	14766058	T	C	GUCY2C	c.3215A>G	NM_004963.3	NP_004954.2:p.(Tyr1072Cys)	NC_000012.11:g.14766058T>C	VUS	1 lab	efda28ef55
14:64655278 SYNE2 G>A	14	64655278	64655278	G	A	SYNE2	c.17723G>A	NM_182914.2	NP_878918.2:p.(Arg5908His)	NC_000014.8:g.64655278G>A	VUS	1 lab	efda9989c5
14:23567156 C14orf119 C>T	14	23567156	23567156	C	T	C14orf119	c.289C>T	NM_017924.4	NP_060394.1:p.(His97Tyr)	NC_000014.8:g.23567156C>T	VUS	1 lab	efdb5643e9
17:73729779 ITGB4 C>T	17	73729779	73729779	C	T	ITGB4	c.1657+6C>T	NM_000213.4	NP_000204.3:p.?	NC_000017.10:g.73729779C>T	(Likely) benign	1 lab	efded1c4a9
8:68070697 CSPP1 CAA>C	8	68070697	68070700	CAA	C	CSPP1	c.2259_2260del	NM_001382391.1	NP_001369320.1:p.(Glu755GlyfsTer30)	NC_000008.10:g.68070699_68070700del	VUS	1 lab	efdf54118e
8:87679267 CNGB3 G>A	8	87679267	87679267	G	A	CNGB3	c.738C>T	NM_019098.4	NP_061971.3:p.(Thr246=)	NC_000008.10:g.87679267G>A	(Likely) benign	1 lab	efe150bc9d
6:33135269 COL11A2 C>T	6	33135269	33135269	C	T	COL11A2	c.4056G>A	NM_080680.2	NP_542411.2:p.(Pro1352=)	NC_000006.11:g.33135269C>T	(Likely) benign	1 lab	efe2a6adb9
16:15812162 MYH11 C>T	16	15812162	15812162	C	T	MYH11	c.5316+10G>A	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15812162C>T	(Likely) benign	1 lab	efe4c09e3c
8:6302232 MCPH1 A>G	8	6302232	6302232	A	G	MCPH1	c.989A>G	NM_001322042.1	NP_001308971.1:p.(Tyr330Cys)	NC_000008.10:g.6302232A>G	(Likely) benign	1 lab	efe533cade
7:116409693 MET T>TTTC	7	116409693	116409696	T	TTTC	MET	c.2638-5_2638-3dup	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116409694_116409696dup	(Likely) benign	1 lab	efe6ed4244
X:48462708 WDR13 C>T	X	48462708	48462708	C	T	WDR13	c.1203C>T	NM_001347217.2	NP_001334146.1:p.(Ile401=)	NC_000023.10:g.48462708C>T	(Likely) benign	1 lab	efe86f454d
7:5568845 ACTB G>A	7	5568845	5568845	G	A	ACTB	c.310C>T	NM_001101.3	NP_001092.1:p.(Leu104=)	NC_000007.13:g.5568845G>A	(Likely) benign	1 lab	efe8e23f69
13:28197196 POLR1D A>G	13	28197196	28197196	A	G	POLR1D	c.211A>G	NM_015972.3	NP_057056.1:p.(Thr71Ala)	NC_000013.10:g.28197196A>G	(Likely) benign	1 lab	efe94050b4
16:70942706 HYDIN A>T	16	70942706	70942706	A	T	HYDIN	c.8063T>A	NM_001270974.2	NP_001257903.1:p.(Ile2688Lys)	NC_000016.9:g.70942706A>T	(Likely) benign	1 lab	efeb547a04
3:9786173 BRPF1 C>T	3	9786173	9786173	C	T	BRPF1	c.2901C>T	NM_001003694.1	NP_001003694.1:p.(Ser967=)	NC_000003.11:g.9786173C>T	(Likely) benign	1 lab	efedcefede
1:245019452 HNRNPU TAA>T	1	245019452	245019455	TAA	T	HNRNPU	c.1919_1920del	NM_031844.3	NP_114032.2:p.(Phe640TyrfsTer7)	NC_000001.10:g.245019454_245019455del	VUS	1 lab	efee45fd8f
21:46923906 COL18A1 G>A	21	46923906	46923906	G	A	COL18A1	c.2684-19G>A	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46923906G>A	(Likely) benign	1 lab	efef6ee8bb
19:1085855 ARHGAP45 C>T	19	1085855	1085855	C	T	ARHGAP45	c.3261C>T	NM_012292.4	NP_036424.2:p.(Asp1087=)	NC_000019.9:g.1085855C>T	(Likely) benign	1 lab	eff0e0ffbd
X:43809226 NDP C>A	X	43809226	43809226	C	A	NDP	c.221G>T	NM_000266.3	NP_000257.1:p.(Arg74Leu)	NC_000023.10:g.43809226C>A	VUS	1 lab	eff2edf2e7
3:123337532 MYLK T>C	3	123337532	123337532	T	C	MYLK	c.5454A>G	NM_053025.3	NP_444253.3:p.(Leu1818=)	NC_000003.11:g.123337532T>C	(Likely) benign	1 lab	eff3a6209c
18:42281696 SETBP1 A>G	18	42281696	42281696	A	G	SETBP1	c.385A>G	NM_015559.3	NP_056374.2:p.(Ile129Val)	NC_000018.9:g.42281696A>G	VUS	1 lab	eff9641b18
X:41204427 DDX3X T>G	X	41204427	41204427	T	G	DDX3X	c.1026-6T>G	NM_001356.4	NP_001347.3:p.?	NC_000023.10:g.41204427T>G	(Likely) pathogenic	1 lab	effc115619
X:41586346 GPR82 A>C	X	41586346	41586346	A	C	GPR82	c.67A>C	NM_080817.4	NP_543007.1:p.(Ile23Leu)	NC_000023.10:g.41586346A>C	(Likely) benign	1 lab	effe235288
X:152128289 ZNF185 G>A	X	152128289	152128289	G	A	ZNF185	c.1549G>A	NM_001178106.1	NP_001171577.1:p.(Glu517Lys)	NC_000023.10:g.152128289G>A	(Likely) benign	1 lab	efff10f7bf
X:118284481 KIAA1210 C>G	X	118284481	118284481	C	G	KIAA1210	c.62G>C	NM_020721.1	NP_065772.1:p.(Arg21Pro)	NC_000023.10:g.118284481C>G	(Likely) benign	1 lab	efffc3cf53
X:153219725 HCFC1 G>A	X	153219725	153219725	G	A	HCFC1	c.4125C>T	NM_005334.2	NP_005325.2:p.(Ala1375=)	NC_000023.10:g.153219725G>A	(Likely) benign	1 lab	f000133a85
X:138865341 ATP11C A>G	X	138865341	138865341	A	G	ATP11C	c.1752T>C	NM_001353812.1	NP_001340741.1:p.(His584=)	NC_000023.10:g.138865341A>G	(Likely) benign	1 lab	f000544a23
11:57428767 CLP1 C>T	11	57428767	57428767	C	T	CLP1	c.1137C>T	NM_006831.2	NP_006822.1:p.(Ser379=)	NC_000011.9:g.57428767C>T	(Likely) benign	1 lab	f001109449
4:44682806 GUF1 C>T	4	44682806	44682806	C	T	GUF1	c.373C>T	NM_021927.2	NP_068746.2:p.(Leu125Phe)	NC_000004.11:g.44682806C>T	VUS	1 lab	f001535810
7:19156538 TWIST1 G>T	7	19156538	19156538	G	T	TWIST1	c.407C>A	NM_000474.3	NP_000465.1:p.(Pro136His)	NC_000007.13:g.19156538G>T	(Likely) pathogenic	1 lab	f00173fd5c
17:33434397 RAD51D G>A	17	33434397	33434397	G	A	RAD51D	c.393C>T	NM_001142571.1	NP_001136043.1:p.(Ser131=)	NC_000017.10:g.33434397G>A	(Likely) benign	1 lab	f0026afa70
17:43545777 PLEKHM1 T>C	17	43545777	43545777	T	C	PLEKHM1	c.1106A>G	NM_014798.2	NP_055613.1:p.(Asp369Gly)	NC_000017.10:g.43545777T>C	(Likely) benign	1 lab	f002aedaff
2:73675230 ALMS1 CTAG>C	2	73675230	73675233	CTAG	C	ALMS1	c.1574_1579del	NM_001378454.1	NP_001365383.1:p.(Pro525_Glu527delinsGln)	NC_000002.11:g.73675231_73675233del	(Likely) benign	1 lab	f005acf2db
17:76121018 TMC6 G>A	17	76121018	76121018	G	A	TMC6	c.585C>T	NM_001127198.2	NP_001120670.1:p.(Ser195=)	NC_000017.10:g.76121018G>A	(Likely) benign	1 lab	f006a0f826
11:19204234 CSRP3 C>A	11	19204234	19204234	C	A	CSRP3				NC_000011.9:g.19204234C>A	(Likely) benign	1 lab	f007b8d0ee
19:50758525 MYH14 C>T	19	50758525	50758525	C	T	MYH14	c.1994C>T	NM_001145809.1	NP_001139281.1:p.(Ser665Leu)	NC_000019.9:g.50758525C>T	VUS	1 lab	f0081f350e
15:43622250 LCMT2 G>A	15	43622250	43622250	G	A	LCMT2	c.438C>T	NM_014793.4	NP_055608.2:p.(Ser146=)	NC_000015.9:g.43622250G>A	(Likely) benign	1 lab	f0082347c8
X:103495063 ESX1 G>A	X	103495063	103495063	G	A	ESX1	c.1067C>T	NM_153448.3	NP_703149.1:p.(Pro356Leu)	NC_000023.10:g.103495063G>A	(Likely) benign	1 lab	f0091bc5f5
6:157521868 ARID1B C>T	6	157521868	157521868	C	T	ARID1B	c.4260C>T	NM_001346813.1	NP_001333742.1:p.(Tyr1420=)	NC_000006.11:g.157521868C>T	(Likely) benign	1 lab	f00a7567b8
8:145013592 PLEC C>G	8	145013592	145013592	C	G	PLEC	c.38G>C	NM_201384.2	NP_958786.1:p.(Gly13Ala)	NC_000008.10:g.145013592C>G	(Likely) benign	1 lab	f00b48f51f
11:6592900 DNHD1 G>A	11	6592900	6592900	G	A	DNHD1	c.13946G>A	NM_144666.2	NP_653267.2:p.(Arg4649Lys)	NC_000011.9:g.6592900G>A	(Likely) benign	1 lab	f00bb4f592
X:101912951 GPRASP1 C>T	X	101912951	101912951	C	T	GPRASP1	c.4110C>T	NM_001184727.1	NP_001171656.1:p.(His1370=)	NC_000023.10:g.101912951C>T	(Likely) benign	1 lab	f00d64c50c
17:78092546 GAA A>AG	17	78092546	78092547	A	AG	GAA	c.2742dup	NM_000152.3	NP_000143.2:p.(Gln915AlafsTer103)	NC_000017.10:g.78092547dup	(Likely) pathogenic	1 lab	f00e6d619b
X:152827696 ATP2B3 G>A	X	152827696	152827696	G	A	ATP2B3	c.3155G>A	NM_021949.3	NP_068768.2:p.(Gly1052Glu)	NC_000023.10:g.152827696G>A	VUS	1 lab	f00e9fad0e
2:209188860 PIKFYVE A>T	2	209188860	209188860	A	T	PIKFYVE	c.2191-6A>T	NM_015040.3	NP_055855.2:p.?	NC_000002.11:g.209188860A>T	(Likely) benign	1 lab	f00fce0437
3:78688987 ROBO1 T>C	3	78688987	78688987	T	C	ROBO1	c.2809A>G	NM_133631.3	NP_598334.2:p.(Asn937Asp)	NC_000003.11:g.78688987T>C	VUS	1 lab	f010cc8a8f
5:131931499 RAD50 T>A	5	131931499	131931499	T	A	RAD50	c.2204T>A	NM_005732.3	NP_005723.2:p.(Met735Lys)	NC_000005.9:g.131931499T>A	(Likely) benign	1 lab	f012060253
13:114524966 GAS6 C>T	13	114524966	114524966	C	T	GAS6	c.1847G>A	NM_000820.3	NP_000811.1:p.(Arg616Gln)	NC_000013.10:g.114524966C>T	(Likely) benign	1 lab	f0159e0844
19:1003690 GRIN3B G>C	19	1003690	1003690	G	C	GRIN3B	c.988G>C	NM_138690.2	NP_619635.1:p.(Gly330Arg)	NC_000019.9:g.1003690G>C	(Likely) benign	1 lab	f015adb98c
22:35806865 MCM5 T>G	22	35806865	35806865	T	G	MCM5	c.881T>G	NM_006739.4	NP_006730.2:p.(Ile294Ser)	NC_000022.10:g.35806865T>G	VUS	1 lab	f015b4edec
X:1719749 AKAP17A C>A	X	1719749	1719749	C	A	AKAP17A	c.1350C>A	NM_005088.2	NP_005079.2:p.(Ser450Arg)	NC_000023.10:g.1719749C>A	(Likely) benign	1 lab	f015d520f7
1:216496884 USH2A A>G	1	216496884	216496884	A	G	USH2A	c.1482T>C	NM_206933.2	NP_996816.2:p.(Tyr494=)	NC_000001.10:g.216496884A>G	(Likely) benign	1 lab	f016ea7de4
4:106640497 GSTCD G>A	4	106640497	106640497	G	A	GSTCD	c.707G>A	NM_001031720.3	NP_001026890.2:p.(Ser236Asn)	NC_000004.11:g.106640497G>A	(Likely) benign	1 lab	f01714755e
2:43971052 PLEKHH2 C>G	2	43971052	43971052	C	G	PLEKHH2	c.3479C>G	NM_172069.4	NP_742066.2:p.(Ala1160Gly)	NC_000002.11:g.43971052C>G	(Likely) benign	1 lab	f01952c087
7:42004017 GLI3 T>G	7	42004017	42004017	T	G	GLI3	c.4654A>C	NM_000168.5	NP_000159.3:p.(Met1552Leu)	NC_000007.13:g.42004017T>G	(Likely) benign	1 lab	f01a0ec625
6:99894100 USP45 C>A	6	99894100	99894100	C	A	USP45	c.1548G>T	NM_001080481.1	NP_001073950.1:p.(Gln516His)	NC_000006.11:g.99894100C>A	VUS	1 lab	f01ca71483
18:28662274 DSC2 C>A	18	28662274	28662274	C	A	DSC2	c.1193G>T	NM_024422.4	NP_077740.1:p.(Gly398Val)	NC_000018.9:g.28662274C>A	VUS	1 lab	f01d640073
19:45917228 ERCC1 G>A	19	45917228	45917228	G	A	ERCC1	c.767C>T	NM_001983.3	NP_001974.1:p.(Thr256Ile)	NC_000019.9:g.45917228G>A	VUS	1 lab	f01dacee66
2:98349463 ZAP70 C>T	2	98349463	98349463	C	T	ZAP70	c.681C>T	NM_001079.3	NP_001070.2:p.(Thr227=)	NC_000002.11:g.98349463C>T	(Likely) benign	1 lab	f01ebfd3fd
X:109561049 AMMECR1 G>A	X	109561049	109561049	G	A	AMMECR1	c.251C>T	NM_015365.2	NP_056180.1:p.(Ala84Val)	NC_000023.10:g.109561049G>A	(Likely) benign	1 lab	f01f165d47
3:58414275 PDHB T>C	3	58414275	58414275	T	C	PDHB	c.859A>G	NM_000925.3	NP_000916.2:p.(Asn287Asp)	NC_000003.11:g.58414275T>C	(Likely) benign	1 lab	f0208f49fe
1:216420292 USH2A C>T	1	216420292	216420292	C	T	USH2A	c.2444G>A	NM_206933.2	NP_996816.2:p.(Cys815Tyr)	NC_000001.10:g.216420292C>T	VUS	1 lab	f02196dc45
X:132730615 GPC3 T>A	X	132730615	132730615	T	A	GPC3	c.1495A>T	NM_001164617.1	NP_001158089.1:p.(Met499Leu)	NC_000023.10:g.132730615T>A	(Likely) benign	1 lab	f021e785a1
4:79188574 FRAS1 G>A	4	79188574	79188574	G	A	FRAS1	c.969G>A	NM_025074.7	NP_079350.5:p.(Val323=)	NC_000004.11:g.79188574G>A	(Likely) benign	1 lab	f0243aac6d
17:29652919 NF1 T>A	17	29652919	29652919	T	A	NF1	c.4854T>A	NM_000267.3	NP_000258.1:p.(Tyr1618Ter)	NC_000017.10:g.29652919T>A	(Likely) pathogenic	1 lab	f02743b2ec
1:1291058 MXRA8 C>A	1	1291058	1291058	C	A	MXRA8	c.121G>T	NM_001282583.1	NP_001269512.1:p.(Ala41Ser)	NC_000001.10:g.1291058C>A	VUS	1 lab	f028153c34
12:21628447 RECQL T>C	12	21628447	21628447	T	C	RECQL	c.1171A>G	NM_002907.4	NP_002898.2:p.(Met391Val)	NC_000012.11:g.21628447T>C	VUS	1 lab	f0289e5321
X:17743597 NHS T>C	X	17743597	17743597	T	C	NHS	c.1371T>C	NM_001291867.1	NP_001278796.1:p.(Ala457=)	NC_000023.10:g.17743597T>C	(Likely) benign	1 lab	f028a4217f
2:86075256 ST3GAL5 C>T	2	86075256	86075256	C	T	ST3GAL5	c.6G>A	NM_001354248.1	NP_001341177.1:p.(Ala2=)	NC_000002.11:g.86075256C>T	(Likely) benign	1 lab	f02dc36f2b
3:100582869 MISSING A>C	3	100582869	100582869	A	C	MISSING				NC_000003.11:g.100582869A>C	(Likely) benign	1 lab	f02e322d18
11:12904577 TEAD1 T>A	11	12904577	12904577	T	A	TEAD1	c.604T>A	NM_021961.5	NP_068780.2:p.(Ser202Thr)	NC_000011.9:g.12904577T>A	(Likely) benign	1 lab	f02e504ef1
4:1807488 FGFR3 G>A	4	1807488	1807488	G	A	FGFR3	c.1663G>A	NM_001163213.1	NP_001156685.1:p.(Val555Met)	NC_000004.11:g.1807488G>A	VUS	1 lab	f02eb3b657
11:19901524 NAV2 G>A	11	19901524	19901524	G	A	NAV2	c.621G>A	NM_182964.6	NP_892009.3:p.(Pro207=)	NC_000011.9:g.19901524G>A	(Likely) benign	1 lab	f02f2f4ba1
20:25300947 ABHD12 C>T	20	25300947	25300947	C	T	ABHD12	c.430G>A	NM_001042472.3	NP_001035937.1:p.(Val144Ile)	NC_000020.10:g.25300947C>T	VUS	1 lab	f0304b67fa
18:44140193 LOXHD1 C>T	18	44140193	44140193	C	T	LOXHD1	c.2914G>A	NM_144612.6	NP_653213.6:p.(Glu972Lys)	NC_000018.9:g.44140193C>T	VUS	1 lab	f0309f7243
16:50827456 CYLD G>A	16	50827456	50827456	G	A	CYLD	c.2351-1G>A	NM_015247.2	NP_056062.1:p.?	NC_000016.9:g.50827456G>A	(Likely) pathogenic	1 lab	f0363fd4ad
17:34803798 MISSING A>G	17	34803798	34803798	A	G	MISSING				NC_000017.10:g.34803798A>G	(Likely) benign	1 lab	f036795d60
10:112360894 SMC3 T>A	10	112360894	112360894	T	A	SMC3	c.2644+6T>A	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112360894T>A	(Likely) benign	1 lab	f0370c14b9
10:17277184 VIM G>A	10	17277184	17277184	G	A	VIM	c.1025G>A	NM_003380.4	NP_003371.2:p.(Arg342His)	NC_000010.10:g.17277184G>A	VUS	1 lab	f0374daa34
1:160389317 VANGL2 C>T	1	160389317	160389317	C	T	VANGL2	c.718C>T	NM_020335.2	NP_065068.1:p.(Arg240Cys)	NC_000001.10:g.160389317C>T	VUS	1 lab	f0378efa5b
8:144893487 SCRIB G>T	8	144893487	144893487	G	T	SCRIB	c.935C>A	NM_182706.4	NP_874365.3:p.(Thr312Asn)	NC_000008.10:g.144893487G>T	VUS	1 lab	f03794cad2
12:48189117 HDAC7 C>T	12	48189117	48189117	C	T	HDAC7	c.1083G>A	NM_001308090.1	NP_001295019.1:p.(Met361Ile)	NC_000012.11:g.48189117C>T	(Likely) benign	1 lab	f03b98dec2
12:111054146 TCTN1 T>C	12	111054146	111054146	T	C	TCTN1	c.29T>C	NM_001173976.1	NP_001167447.1:p.(Leu10Pro)	NC_000012.11:g.111054146T>C	(Likely) benign	1 lab	f03b9bc241
12:80704450 OTOGL T>C	12	80704450	80704450	T	C	OTOGL	c.3366T>C	NM_173591.3	NP_775862.3:p.(Tyr1122=)	NC_000012.11:g.80704450T>C	(Likely) benign	1 lab	f03c0342d1
10:88441506 LDB3 A>T	10	88441506	88441506	A	T	LDB3	c.635A>T	NM_001171610.1	NP_001165081.1:p.(Gln212Leu)	NC_000010.10:g.88441506A>T	VUS	1 lab	f03c37132c
17:63533774 AXIN2 A>G	17	63533774	63533774	A	G	AXIN2	c.1380T>C	NM_004655.3	NP_004646.3:p.(Tyr460=)	NC_000017.10:g.63533774A>G	(Likely) benign	1 lab	f0405b8501
7:21628197 DNAH11 A>G	7	21628197	21628197	A	G	DNAH11				NC_000007.13:g.21628197A>G	(Likely) benign	1 lab	f0405c1c68
11:6662011 DCHS1 G>A	11	6662011	6662011	G	A	DCHS1				NC_000011.9:g.6662011G>A	(Likely) benign	1 lab	f041b7fa1b
X:37965982 SYTL5 G>A	X	37965982	37965982	G	A	SYTL5	c.1292G>A	NM_001163335.1	NP_001156807.1:p.(Arg431Lys)	NC_000023.10:g.37965982G>A	(Likely) benign	1 lab	f042c0c3ca
16:23453879 COG7 C>A	16	23453879	23453879	C	A	COG7	c.523G>T	NM_153603.3	NP_705831.1:p.(Val175Leu)	NC_000016.9:g.23453879C>A	(Likely) benign	1 lab	f044033b5f
20:52192507 ZNF217 G>A	20	52192507	52192507	G	A	ZNF217	c.2796C>T	NM_006526.2	NP_006517.1:p.(Pro932=)	NC_000020.10:g.52192507G>A	(Likely) benign	1 lab	f045298acd
2:233712178 GIGYF2 G>A	2	233712178	233712178	G	A	GIGYF2	c.3581G>A	NM_015575.3	NP_056390.2:p.(Arg1194His)	NC_000002.11:g.233712178G>A	VUS	1 lab	f047a88fd5
2:179448410 TTN T>C	2	179448410	179448410	T	C	TTN	c.65499A>G	NM_001267550.1	NP_001254479.1:p.(Arg21833=)	NC_000002.11:g.179448410T>C	(Likely) benign	1 lab	f0483af003
17:5424906 NLRP1 C>T	17	5424906	5424906	C	T	NLRP1	c.3721G>A	NM_033004.4	NP_127497.1:p.(Val1241Ile)	NC_000017.10:g.5424906C>T	(Likely) benign	1 lab	f049cddfab
15:62202504 VPS13C A>T	15	62202504	62202504	A	T	VPS13C	c.8716T>A	NM_001018088.2	NP_001018098.1:p.(Cys2906Ser)	NC_000015.9:g.62202504A>T	VUS	1 lab	f04a82a874
14:74969631 LTBP2 T>C	14	74969631	74969631	T	C	LTBP2	c.4895A>G	NM_000428.2	NP_000419.1:p.(Tyr1632Cys)	NC_000014.8:g.74969631T>C	VUS	1 lab	f04b16da14
1:27120953 PIGV A>G	1	27120953	27120953	A	G	PIGV	c.428A>G	NM_001202554.1	NP_001189483.1:p.(His143Arg)	NC_000001.10:g.27120953A>G	(Likely) benign	1 lab	f04c689e66
11:78413335 TENM4 G>A	11	78413335	78413335	G	A	TENM4	c.4323C>T	NM_001098816.2	NP_001092286.2:p.(Val1441=)	NC_000011.9:g.78413335G>A	(Likely) benign	1 lab	f050465dad
15:48729989 FBN1 C>T	15	48729989	48729989	C	T	FBN1	c.6289G>A	NM_000138.4	NP_000129.3:p.(Glu2097Lys)	NC_000015.9:g.48729989C>T	VUS	1 lab	f0504fe5a3
11:12901397 TEAD1 A>G	11	12901397	12901397	A	G	TEAD1	c.465+8A>G	NM_021961.5	NP_068780.2:p.?	NC_000011.9:g.12901397A>G	(Likely) benign	1 lab	f0518f0b7e
4:110790856 LRIT3 C>T	4	110790856	110790856	C	T	LRIT3	c.951C>T	NM_198506.4	NP_940908.3:p.(Gly317=)	NC_000004.11:g.110790856C>T	(Likely) benign	1 lab	f052201854
15:82422745 EFL1 T>C	15	82422745	82422745	T	C	EFL1	c.3332A>G	NM_001322845.1	NP_001309774.1:p.(Glu1111Gly)	NC_000015.9:g.82422745T>C	VUS	1 lab	f0538b8bf0
13:111138153 COL4A2 T>C	13	111138153	111138153	T	C	COL4A2	c.3177T>C	NM_001846.3	NP_001837.2:p.(Ile1059=)	NC_000013.10:g.111138153T>C	(Likely) benign	1 lab	f054c5f9be
18:47462612 MYO5B A>G	18	47462612	47462612	A	G	MYO5B	c.2003+10T>C	NM_001080467.2	NP_001073936.1:p.?	NC_000018.9:g.47462612A>G	(Likely) benign	1 lab	f0559429e1
2:20132097 WDR35 C>T	2	20132097	20132097	C	T	WDR35	c.2803G>A	NM_001006657.1	NP_001006658.1:p.(Glu935Lys)	NC_000002.11:g.20132097C>T	VUS	1 lab	f0570e6221
5:70810894 BDP1 A>G	5	70810894	70810894	A	G	BDP1	c.4594A>G	NM_018429.2	NP_060899.2:p.(Lys1532Glu)	NC_000005.9:g.70810894A>G	(Likely) benign	1 lab	f0581aa4d6
1:201046997 CACNA1S C>T	1	201046997	201046997	C	T	CACNA1S	c.1619+10G>A	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201046997C>T	(Likely) benign	1 lab	f0586cce20
1:185969311 HMCN1 A>T	1	185969311	185969311	A	T	HMCN1	c.4009A>T	NM_031935.2	NP_114141.2:p.(Ile1337Phe)	NC_000001.10:g.185969311A>T	VUS	1 lab	f059b01100
17:29654737 NF1 G>T	17	29654737	29654737	G	T	NF1	c.5426G>T	NM_000267.3	NP_000258.1:p.(Arg1809Leu)	NC_000017.10:g.29654737G>T	(Likely) pathogenic	1 lab	f05d31f2f3
6:157405834 ARID1B G>A	6	157405834	157405834	G	A	ARID1B	c.2037G>A	NM_001346813.1	NP_001333742.1:p.(Thr679=)	NC_000006.11:g.157405834G>A	(Likely) benign	1 lab	f05d55d81e
X:50377532 SHROOM4 C>A	X	50377532	50377532	C	A	SHROOM4	c.1541G>T	NM_020717.3	NP_065768.2:p.(Arg514Ile)	NC_000023.10:g.50377532C>A	(Likely) benign	1 lab	f05d80b936
6:36343616 ETV7 C>T	6	36343616	36343616	C	T	ETV7	c.121G>A	NM_001207037.1	NP_001193966.1:p.(Gly41Arg)	NC_000006.11:g.36343616C>T	(Likely) benign	1 lab	f062f31590
2:170060631 LRP2 G>A	2	170060631	170060631	G	A	LRP2	c.7866C>T	NM_004525.3	NP_004516.2:p.(Asp2622=)	NC_000002.11:g.170060631G>A	(Likely) benign	1 lab	f063529ed7
16:89836978 FANCA G>A	16	89836978	89836978	G	A	FANCA	c.2216C>T	NM_001286167.2	NP_001273096.1:p.(Pro739Leu)	NC_000016.9:g.89836978G>A	VUS	1 lab	f0648c7afd
19:45209083 CEACAM16 G>A	19	45209083	45209083	G	A	CEACAM16	c.885G>A	NM_001039213.4	NP_001034302.2:p.(Ala295=)	NC_000019.9:g.45209083G>A	(Likely) benign	1 lab	f064ee50bb
13:103514998 ERCC5 G>A	13	103514998	103514998	G	A	ERCC5	c.1499G>A	NM_000123.3	NP_000114.2:p.(Arg500Gln)	NC_000013.10:g.103514998G>A	(Likely) benign	1 lab	f065a01851
X:77150983 MAGT1 C>A	X	77150983	77150983	C	A	MAGT1	c.21G>T	NM_032121.5	NP_115497.4:p.(Pro7=)	NC_000023.10:g.77150983C>A	(Likely) benign	1 lab	f066e6153b
2:36737262 CRIM1 G>T	2	36737262	36737262	G	T	CRIM1	c.1638G>T	NM_016441.3	NP_057525.1:p.(Lys546Asn)	NC_000002.11:g.36737262G>T	VUS	1 lab	f06a1b058a
X:153590108 FLNA C>CT	X	153590108	153590110	C	CT	FLNA	c.2873dup	NM_001110556.2	NP_001104026.1:p.(Ser959GlufsTer69)	NC_000023.10:g.153590110dup	(Likely) pathogenic	1 lab	f06b032296
14:105418233 AHNAK2 C>T	14	105418233	105418233	C	T	AHNAK2	c.3555G>A	NM_138420.3	NP_612429.2:p.(Ser1185=)	NC_000014.8:g.105418233C>T	(Likely) benign	1 lab	f06b494762
3:189711924 P3H2 T>A	3	189711924	189711924	T	A	P3H2	c.782A>T	NM_018192.4	NP_060662.2:p.(Glu261Val)	NC_000003.11:g.189711924T>A	(Likely) benign	1 lab	f06bb03188
6:44272473 AARS2 C>T	6	44272473	44272473	C	T	AARS2	c.1661G>A	NM_020745.3	NP_065796.1:p.(Arg554His)	NC_000006.11:g.44272473C>T	(Likely) benign	1 lab	f06c97b968
8:38961159 ADAM9 G>T	8	38961159	38961159	G	T	ADAM9	c.2400G>T	NM_003816.2	NP_003807.1:p.(Gln800His)	NC_000008.10:g.38961159G>T	VUS	1 lab	f06eceea2b
3:38597188 SCN5A G>C	3	38597188	38597188	G	C	SCN5A	c.4501C>G	NM_001099404.1	NP_001092874.1:p.(Leu1501Val)	NC_000003.11:g.38597188G>C	VUS	1 lab	f06f242d4d
X:71877488 PHKA1 G>A	X	71877488	71877488	G	A	PHKA1	c.868C>T	NM_002637.3	NP_002628.2:p.(Arg290Cys)	NC_000023.10:g.71877488G>A	VUS	1 lab	f06fba093d
17:42964126 EFTUD2 C>G	17	42964126	42964126	C	G	EFTUD2	c.106-8G>C	NM_001258353.1	NP_001245282.1:p.?	NC_000017.10:g.42964126C>G	(Likely) benign	1 lab	f0702cd818
1:240371451 FMN2 A>T	1	240371451	240371451	A	T	FMN2	c.3339A>T	NM_020066.5	NP_064450.3:p.(Leu1113=)	NC_000001.10:g.240371451A>T	(Likely) benign	1 lab	f070940f0b
17:45369788 ITGB3 G>A	17	45369788	45369788	G	A	ITGB3	c.1544G>A	NM_000212.2	NP_000203.2:p.(Arg515Gln)	NC_000017.10:g.45369788G>A	(Likely) benign	1 lab	f072c4f728
16:2106696 TSC2 G>T	16	2106696	2106696	G	T	TSC2	c.700G>T	NM_000548.3	NP_000539.2:p.(Glu234Ter)	NC_000016.9:g.2106696G>T	(Likely) pathogenic	1 lab	f0738a7c1f
22:20040102 TANGO2 G>C	22	20040102	20040102	G	C	TANGO2	c.383G>C	NM_001322141.1	NP_001309070.1:p.(Gly128Ala)	NC_000022.10:g.20040102G>C	VUS	1 lab	f074af311c
16:16208714 ABCC1 G>A	16	16208714	16208714	G	A	ABCC1	c.3171G>A	NM_004996.3	NP_004987.2:p.(Leu1057=)	NC_000016.9:g.16208714G>A	(Likely) benign	1 lab	f075889d87
X:16627738 CTPS2 C>T	X	16627738	16627738	C	T	CTPS2	c.1617G>A	NM_001144002.1	NP_001137474.1:p.(Pro539=)	NC_000023.10:g.16627738C>T	(Likely) benign	1 lab	f076b1b526
22:41907978 ACO2 G>A	22	41907978	41907978	G	A	ACO2	c.525+6G>A	NM_001098.2	NP_001089.1:p.?	NC_000022.10:g.41907978G>A	(Likely) benign	1 lab	f077eec7af
6:31828365 NEU1 C>T	6	31828365	31828365	C	T	NEU1	c.649G>A	NM_000434.3	NP_000425.1:p.(Val217Met)	NC_000006.11:g.31828365C>T	VUS	1 lab	f078375e6c
X:19416408 MAP3K15 C>A	X	19416408	19416408	C	A	MAP3K15	c.2002G>T	NM_001001671.3	NP_001001671.3:p.(Ala668Ser)	NC_000023.10:g.19416408C>A	VUS	1 lab	f07852dd25
11:64112480 CCDC88B C>T	11	64112480	64112480	C	T	CCDC88B	c.2467C>T	NM_032251.6	NP_115627.6:p.(Arg823Trp)	NC_000011.9:g.64112480C>T	VUS	1 lab	f07992e3fa
19:11537558 MISSING G>A	19	11537558	11537558	G	A	MISSING				NC_000019.9:g.11537558G>A	VUS	1 lab	f07b0601a2
7:4824623 AP5Z1 G>A	7	4824623	4824623	G	A	AP5Z1	c.875G>A	NM_014855.3	NP_055670.1:p.(Arg292Gln)	NC_000007.13:g.4824623G>A	VUS	1 lab	f07e06098a
X:153580288 FLNA C>T	X	153580288	153580288	C	T	FLNA	c.6871G>A	NM_001110556.2	NP_001104026.1:p.(Gly2291Ser)	NC_000023.10:g.153580288C>T	VUS	1 lab	f07e308728
4:435768 ZNF721 TTCTCC>T	4	435768	435774	TTCTCC	T	ZNF721	c.2483_2487del	NM_133474.4	NP_597731.2:p.(Arg828AsnfsTer11)	NC_000004.11:g.435770_435774del	VUS	1 lab	f07e74e675
2:179479042 TTN G>C	2	179479042	179479042	G	C	TTN	c.49082C>G	NM_001267550.1	NP_001254479.1:p.(Thr16361Arg)	NC_000002.11:g.179479042G>C	VUS	1 lab	f07ea33b59
13:25458395 CPAP C>A	13	25458395	25458395	C	A	CPAP	c.3619-12G>T	NM_018451.4	NP_060921.3:p.?	NC_000013.10:g.25458395C>A	(Likely) benign	1 lab	f07fab422a
X:140995709 MAGEC1 C>T	X	140995709	140995709	C	T	MAGEC1	c.2519C>T	NM_005462.4	NP_005453.2:p.(Ser840Leu)	NC_000023.10:g.140995709C>T	(Likely) benign	1 lab	f07fb43692
19:13192611 NFIX C>T	19	13192611	13192611	C	T	NFIX				NC_000019.9:g.13192611C>T	VUS	1 lab	f080143e51
10:114169309 ACSL5 G>T	10	114169309	114169309	G	T	ACSL5	c.577G>T	NM_203380.1	NP_976314.1:p.(Val193Leu)	NC_000010.10:g.114169309G>T	(Likely) benign	1 lab	f08104e226
X:30873366 TAB3 G>T	X	30873366	30873366	G	T	TAB3	c.416C>A	NM_152787.4	NP_690000.3:p.(Pro139Gln)	NC_000023.10:g.30873366G>T	VUS	1 lab	f081139681
1:242042519 EXO1 C>T	1	242042519	242042519	C	T	EXO1	c.1983C>T	NM_130398.3	NP_569082.2:p.(Asp661=)	NC_000001.10:g.242042519C>T	(Likely) benign	1 lab	f0814d6fed
X:25025355 ARX A>AGGCGGC	X	25025355	25025376	A	AGGCGGC	ARX	c.1315_1320dup	NM_139058.2	NP_620689.1:p.(Ala439_Ala440dup)	NC_000023.10:g.25025371_25025376dup	VUS	1 lab	f081a7cf3a
1:237806638 RYR2 C>T	1	237806638	237806638	C	T	RYR2	c.7233C>T	NM_001035.2	NP_001026.2:p.(Ala2411=)	NC_000001.10:g.237806638C>T	(Likely) benign	1 lab	f082aa5ddc
3:33055710 GLB1 C>G	3	33055710	33055710	C	G	GLB1	c.1572G>C	NM_000404.3	NP_000395.2:p.(Leu524=)	NC_000003.11:g.33055710C>G	(Likely) benign	1 lab	f0831e32d1
6:7580678 DSP A>T	6	7580678	7580678	A	T	DSP	c.4255A>T	NM_004415.2	NP_004406.2:p.(Thr1419Ser)	NC_000006.11:g.7580678A>T	(Likely) benign	1 lab	f083893407
19:1009585 GRIN3B C>A	19	1009585	1009585	C	A	GRIN3B	c.3116C>A	NM_138690.2	NP_619635.1:p.(Pro1039Gln)	NC_000019.9:g.1009585C>A	VUS	1 lab	f084b1fb33
7:92763220 SAMD9L G>A	7	92763220	92763220	G	A	SAMD9L	c.2065C>T	NM_152703.4	NP_689916.2:p.(Arg689Ter)	NC_000007.13:g.92763220G>A	VUS	1 lab	f084de9cdf
17:58236599 CA4 A>T	17	58236599	58236599	A	T	CA4	c.753A>T	NM_000717.4	NP_000708.1:p.(Ala251=)	NC_000017.10:g.58236599A>T	(Likely) benign	1 lab	f084eba0e1
13:32907265 BRCA2 G>A	13	32907265	32907265	G	A	BRCA2	c.1650G>A	NM_000059.3	NP_000050.2:p.(Glu550=)	NC_000013.10:g.32907265G>A	(Likely) benign	1 lab	f085fc30db
11:66469144 SPTBN2 G>A	11	66469144	66469144	G	A	SPTBN2	c.2727C>T	NM_006946.3	NP_008877.1:p.(Thr909=)	NC_000011.9:g.66469144G>A	(Likely) benign	1 lab	f086e0f244
14:100364648 EML1 C>T	14	100364648	100364648	C	T	EML1	c.954+9C>T	NM_001008707.1	NP_001008707.1:p.?	NC_000014.8:g.100364648C>T	(Likely) benign	1 lab	f0876fb699
2:238296762 COL6A3 C>T	2	238296762	238296762	C	T	COL6A3	c.775G>A	NM_004369.3	NP_004360.2:p.(Ala259Thr)	NC_000002.11:g.238296762C>T	(Likely) benign	1 lab	f089db02b8
20:57485444 GNAS A>G	20	57485444	57485444	A	G	GNAS	c.2955A>G	NM_080425.3	NP_536350.2:p.(Arg985=)	NC_000020.10:g.57485444A>G	(Likely) benign	1 lab	f08a36fbc3
X:9656277 TBL1X C>A	X	9656277	9656277	C	A	TBL1X	c.578C>A	NM_005647.3	NP_005638.1:p.(Ala193Asp)	NC_000023.10:g.9656277C>A	VUS	1 lab	f08c6d4fd5
22:18387408 MICAL3 G>A	22	18387408	18387408	G	A	MICAL3	c.462C>T	NM_015241.3	NP_056056.2:p.(Ile154=)	NC_000022.10:g.18387408G>A	(Likely) benign	1 lab	f08cece03b
1:3732885 CEP104 C>T	1	3732885	3732885	C	T	CEP104	c.2621G>A	NM_014704.3	NP_055519.1:p.(Arg874His)	NC_000001.10:g.3732885C>T	VUS	1 lab	f08dd84736
16:88505595 ZNF469 A>G	16	88505595	88505595	A	G	ZNF469				NC_000016.9:g.88505595A>G	(Likely) benign	1 lab	f08df13825
6:143092464 HIVEP2 G>A	6	143092464	143092464	G	A	HIVEP2	c.3412C>T	NM_006734.3	NP_006725.3:p.(Gln1138Ter)	NC_000006.11:g.143092464G>A	(Likely) pathogenic	1 lab	f094f74456
9:35707455 TLN1 G>A	9	35707455	35707455	G	A	TLN1	c.4663C>T	NM_006289.4	NP_006280.3:p.(Arg1555Cys)	NC_000009.11:g.35707455G>A	VUS	1 lab	f0957595fb
7:154681027 MISSING T>A	7	154681027	154681027	T	A	MISSING				NC_000007.13:g.154681027T>A	VUS	1 lab	2adc5a8182
6:33135616 COL11A2 G>A	6	33135616	33135616	G	A	COL11A2	c.3974C>T	NM_080680.2	NP_542411.2:p.(Ser1325Leu)	NC_000006.11:g.33135616G>A	(Likely) benign	1 lab	f095cbb0df
11:73071384 ARHGEF17 G>A	11	73071384	73071384	G	A	ARHGEF17	c.4226G>A	NM_014786.3	NP_055601.2:p.(Arg1409Gln)	NC_000011.9:g.73071384G>A	VUS	1 lab	f095d3713e
15:23891672 MAGEL2 C>T	15	23891672	23891672	C	T	MAGEL2	c.1218G>A	NM_019066.4	NP_061939.3:p.(Pro406=)	NC_000015.9:g.23891672C>T	(Likely) benign	1 lab	f09621ed91
11:108381373 EXPH5 G>A	11	108381373	108381373	G	A	EXPH5	c.4861C>T	NM_015065.3	NP_055880.2:p.(Pro1621Ser)	NC_000011.9:g.108381373G>A	(Likely) benign	1 lab	f096c68be3
6:7575688 DSP G>A	6	7575688	7575688	G	A	DSP	c.2597G>A	NM_004415.2	NP_004406.2:p.(Arg866His)	NC_000006.11:g.7575688G>A	VUS	1 lab	f0971925a7
3:49569980 DAG1 G>A	3	49569980	49569980	G	A	DAG1	c.2036G>A	NM_001165928.3	NP_001159400.2:p.(Arg679His)	NC_000003.11:g.49569980G>A	(Likely) benign	1 lab	f099157c78
5:67590478 PIK3R1 C>T	5	67590478	67590478	C	T	PIK3R1	c.1540C>T	NM_181523.2	NP_852664.1:p.(Arg514Cys)	NC_000005.9:g.67590478C>T	VUS	1 lab	f09b1761d4
2:219297657 VIL1 C>T	2	219297657	219297657	C	T	VIL1	c.1483C>T	NM_007127.2	NP_009058.2:p.(Arg495Cys)	NC_000002.11:g.219297657C>T	(Likely) benign	1 lab	f09b7fdbc6
1:168274327 TBX19 T>C	1	168274327	168274327	T	C	TBX19	c.809T>C	NM_005149.2	NP_005140.1:p.(Leu270Pro)	NC_000001.10:g.168274327T>C	VUS	1 lab	f09ee2e7ee
5:156926617 ADAM19 C>T	5	156926617	156926617	C	T	ADAM19	c.1362G>A	NM_033274.4	NP_150377.1:p.(Ala454=)	NC_000005.9:g.156926617C>T	(Likely) benign	1 lab	f0a10c3779
14:21785900 RPGRIP1 C>T	14	21785900	21785900	C	T	RPGRIP1	c.1197C>T	NM_020366.3	NP_065099.3:p.(Asn399=)	NC_000014.8:g.21785900C>T	(Likely) benign	1 lab	f0a5651091
4:981013 IDUA G>C	4	981013	981013	G	C	IDUA	c.141G>C	NM_000203.5	NP_000194.2:p.(Trp47Cys)	NC_000004.11:g.981013G>C	VUS	1 lab	f0a59ee537
3:150690354 CLRN1 T>C	3	150690354	150690354	T	C	CLRN1	c.142A>G	NM_001256819.1	NP_001243748.1:p.(Asn48Asp)	NC_000003.11:g.150690354T>C	VUS	1 lab	f0a95d6a55
1:23219431 EPHB2 G>A	1	23219431	23219431	G	A	EPHB2	c.1483G>A	NM_004442.7	NP_004433.2:p.(Val495Met)	NC_000001.10:g.23219431G>A	VUS	1 lab	f0a999792d
20:62038304 KCNQ2 G>A	20	62038304	62038304	G	A	KCNQ2	c.2312C>T	NM_172107.3	NP_742105.1:p.(Thr771Ile)	NC_000020.10:g.62038304G>A	(Likely) benign	1 lab	f0acbd56ea
15:48730117 FBN1 G>A	15	48730117	48730117	G	A	FBN1	c.6164-3C>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48730117G>A	(Likely) benign	1 lab	f0ad0918ff
9:140086761 TPRN C>T	9	140086761	140086761	C	T	TPRN	c.2023G>A	NM_001128228.3	NP_001121700.2:p.(Ala675Thr)	NC_000009.11:g.140086761C>T	VUS	1 lab	f0aeb70ff5
3:15683563 BTD A>G	3	15683563	15683563	A	G	BTD	c.458A>G	NM_000060.4	NP_000051.1:p.(Glu153Gly)	NC_000003.11:g.15683563A>G	VUS	1 lab	f0af9b8abc
6:56371264 DST C>T	6	56371264	56371264	C	T	DST	c.13084G>A	NM_001144769.2	NP_001138241.1:p.(Val4362Ile)	NC_000006.11:g.56371264C>T	VUS	1 lab	f0b061e6a2
1:3331099 PRDM16 C>T	1	3331099	3331099	C	T	PRDM16	c.2604-25C>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3331099C>T	(Likely) benign	1 lab	f0b0b8d09f
Y:14952371 USP9Y G>A	Y	14952371	14952371	G	A	USP9Y	c.5919G>A	NM_004654.3	NP_004645.2:p.(Glu1973=)	NC_000024.9:g.14952371G>A	(Likely) benign	1 lab	f0b228132d
1:231902975 DISC1 C>T	1	231902975	231902975	C	T	DISC1	c.1454C>T	NM_001164537.1	NP_001158009.1:p.(Thr485Met)	NC_000001.10:g.231902975C>T	VUS	1 lab	f0b32eb782
8:48878942 MCM4 G>A	8	48878942	48878942	G	A	MCM4	c.1028G>A	NM_005914.4	NP_005905.2:p.(Arg343His)	NC_000008.10:g.48878942G>A	VUS	1 lab	f0b4047593
6:31833503 SLC44A4 G>A	6	31833503	31833503	G	A	SLC44A4	c.1318C>T	NM_001178045.1	NP_001171516.1:p.(Arg440Trp)	NC_000006.11:g.31833503G>A	VUS	1 lab	f0b418b3bf
20:4680180 PRNP C>T	20	4680180	4680180	C	T	PRNP	c.314C>T	NM_000311.4	NP_000302.1:p.(Pro105Leu)	NC_000020.10:g.4680180C>T	(Likely) pathogenic	1 lab	f0b4d66b72
6:51712565 PKHD1 A>C	6	51712565	51712565	A	C	PKHD1	c.8107+8T>G	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51712565A>C	(Likely) benign	1 lab	f0b53c5c2d
9:133920942 LAMC3 C>A	9	133920942	133920942	C	A	LAMC3	c.1414C>A	NM_006059.3	NP_006050.3:p.(His472Asn)	NC_000009.11:g.133920942C>A	(Likely) benign	1 lab	f0b5b39b49
3:180366067 CCDC39 T>C	3	180366067	180366067	T	C	CCDC39	c.1248A>G	NM_181426.2	NP_852091.1:p.(Glu416=)	NC_000003.11:g.180366067T>C	(Likely) benign	1 lab	f0b688792f
10:101690304 DNMBP G>C	10	101690304	101690304	G	C	DNMBP	c.217C>G	NM_001318326.1	NP_001305255.1:p.(Gln73Glu)	NC_000010.10:g.101690304G>C	VUS	1 lab	f0bba2e730
11:68216349 LRP5 C>T	11	68216349	68216349	C	T	LRP5	c.2916C>T	NM_001291902.1	NP_001278831.1:p.(Ser972=)	NC_000011.9:g.68216349C>T	(Likely) benign	1 lab	f0bbc9c6bd
6:32007624 TNXB A>G	6	32007624	32007624	A	G	TNXB				NC_000006.11:g.32007624A>G	(Likely) benign	1 lab	2bc52c12a8
1:205027801 CNTN2 G>A	1	205027801	205027801	G	A	CNTN2	c.487+10G>A	NM_005076.4	NP_005067.1:p.?	NC_000001.10:g.205027801G>A	(Likely) benign	1 lab	f0bbe4d5cd
19:46443270 NOVA2 T>TG	19	46443270	46443272	T	TG	NOVA2	c.1329dup	NM_002516.4	NP_002507.1:p.(Lys444GlnfsTer82)	NC_000019.9:g.46443272dup	(Likely) pathogenic	1 lab	f0bc06db6f
15:23891383 MAGEL2 C>T	15	23891383	23891383	C	T	MAGEL2	c.1507G>A	NM_019066.4	NP_061939.3:p.(Ala503Thr)	NC_000015.9:g.23891383C>T	VUS	1 lab	f0bd80f035
1:160302335 COPA C>A	1	160302335	160302335	C	A	COPA	c.399G>T	NM_001098398.2	NP_001091868.1:p.(Gly133=)	NC_000001.10:g.160302335C>A	(Likely) benign	1 lab	f0bdb06b36
20:10628741 JAG1 AC>A	20	10628741	10628742	AC	A	JAG1	c.1586del	NM_000214.3	NP_000205.1:p.(Cys529LeufsTer35)	NC_000020.10:g.10628742del	(Likely) pathogenic	1 lab	f0bdce4574
15:23890622 MAGEL2 G>C	15	23890622	23890622	G	C	MAGEL2	c.2268C>G	NM_019066.4	NP_061939.3:p.(Phe756Leu)	NC_000015.9:g.23890622G>C	VUS	1 lab	f0be04bae4
3:48508335 TREX1 C>T	3	48508335	48508335	C	T	TREX1	c.251C>T	NM_007248.4	NP_009179.2:p.(Ala84Val)	NC_000003.11:g.48508335C>T	(Likely) benign	1 lab	f0bf75562c
5:140783500 PCDHGA9 G>T	5	140783500	140783500	G	T	PCDHGA9	c.981G>T	NM_018921.2	NP_061744.1:p.(Leu327Phe)	NC_000005.9:g.140783500G>T	(Likely) benign	1 lab	f0bf86e6b3
9:140094259 TPRN G>T	9	140094259	140094259	G	T	TPRN	c.905C>A	NM_001128228.3	NP_001121700.2:p.(Ala302Asp)	NC_000009.11:g.140094259G>T	VUS	1 lab	f0c01001f7
15:23892566 MAGEL2 C>T	15	23892566	23892566	C	T	MAGEL2	c.324G>A	NM_019066.4	NP_061939.3:p.(Leu108=)	NC_000015.9:g.23892566C>T	(Likely) benign	1 lab	f0c0e9e9ee
17:29676127 NF1 GT>G	17	29676127	29676133	GT	G	NF1	c.7190-5del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676133del	(Likely) benign	1 lab	f0c1cd4378
X:118151593 LONRF3 A>G	X	118151593	118151593	A	G	LONRF3	c.2220A>G	NM_001031855.2	NP_001027026.1:p.(Leu740=)	NC_000023.10:g.118151593A>G	(Likely) benign	1 lab	f0c2bc7a41
14:60977866 SIX6 C>T	14	60977866	60977866	C	T	SIX6	c.637C>T	NM_007374.2	NP_031400.2:p.(Pro213Ser)	NC_000014.8:g.60977866C>T	(Likely) benign	1 lab	f0c4a2f94e
22:21084220 PI4KA G>A	22	21084220	21084220	G	A	PI4KA	c.4368C>T	NM_058004.3	NP_477352.3:p.(Tyr1456=)	NC_000022.10:g.21084220G>A	(Likely) benign	1 lab	f0c54de91c
9:133907461 LAMC3 C>T	9	133907461	133907461	C	T	LAMC3	c.708C>T	NM_006059.3	NP_006050.3:p.(Ile236=)	NC_000009.11:g.133907461C>T	(Likely) benign	1 lab	f0c5a15e7e
4:56890671 CEP135 C>T	4	56890671	56890671	C	T	CEP135	c.3325C>T	NM_025009.4	NP_079285.2:p.(Arg1109Ter)	NC_000004.11:g.56890671C>T	VUS	1 lab	f0c5b3865b
1:235969682 LYST C>T	1	235969682	235969682	C	T	LYST	c.2754G>A	NM_001301365.1	NP_001288294.1:p.(Glu918=)	NC_000001.10:g.235969682C>T	(Likely) benign	1 lab	f0c5c5aee7
X:150912849 CNGA2 C>G	X	150912849	150912849	C	G	CNGA2	c.1874C>G	NM_005140.1	NP_005131.1:p.(Ala625Gly)	NC_000023.10:g.150912849C>G	VUS	1 lab	f0c7b096ff
19:6678186 C3 G>A	19	6678186	6678186	G	A	C3	c.4827C>T	NM_000064.2	NP_000055.2:p.(Ser1609=)	NC_000019.9:g.6678186G>A	(Likely) benign	1 lab	f0c99abde5
13:110864756 COL4A1 G>A	13	110864756	110864756	G	A	COL4A1	c.387+8C>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110864756G>A	(Likely) benign	1 lab	f0ca1460f9
8:10468553 RP1L1 C>G	8	10468553	10468553	C	G	RP1L1	c.3055G>C	NM_178857.5	NP_849188.4:p.(Gly1019Arg)	NC_000008.10:g.10468553C>G	(Likely) benign	1 lab	f0ca7ec7ae
X:7811747 VCX T>A	X	7811747	7811747	T	A	VCX	c.311T>A	NM_013452.2	NP_038480.2:p.(Leu104Gln)	NC_000023.10:g.7811747T>A	VUS	1 lab	f0cb274ed0
7:94030873 COL1A2 C>T	7	94030873	94030873	C	T	COL1A2	c.226-6C>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94030873C>T	(Likely) benign	1 lab	f0cc3c98c9
21:45751826 CFAP410 C>G	21	45751826	45751826	C	G	CFAP410	c.445G>C	NM_001271441.1	NP_001258370.1:p.(Gly149Arg)	NC_000021.8:g.45751826C>G	(Likely) benign	1 lab	f0cd0da733
19:6712376 C3 G>A	19	6712376	6712376	G	A	C3	c.1161C>T	NM_000064.2	NP_000055.2:p.(Val387=)	NC_000019.9:g.6712376G>A	(Likely) benign	1 lab	f0cdf4c007
2:45169301 SIX3 G>T	2	45169301	45169301	G	T	SIX3	c.58G>T	NM_005413.3	NP_005404.1:p.(Ala20Ser)	NC_000002.11:g.45169301G>T	(Likely) benign	1 lab	f0cecb947f
9:96021728 WNK2 T>C	9	96021728	96021728	T	C	WNK2	c.2898T>C	NM_001282394.1	NP_001269323.1:p.(Pro966=)	NC_000009.11:g.96021728T>C	(Likely) benign	1 lab	f0ceda9d1f
5:36985247 NIPBL G>T	5	36985247	36985247	G	T	NIPBL	c.1965G>T	NM_015384.4	NP_056199.2:p.(Glu655Asp)	NC_000005.9:g.36985247G>T	(Likely) benign	1 lab	f0d0b6f2db
8:38103275 DDHD2 A>C	8	38103275	38103275	A	C	DDHD2	c.864A>C	NM_015214.2	NP_056029.2:p.(Ile288=)	NC_000008.10:g.38103275A>C	(Likely) benign	1 lab	f0d0c42cae
1:2235388 SKI C>T	1	2235388	2235388	C	T	SKI	c.1321C>T	NM_003036.3	NP_003027.1:p.(Arg441Trp)	NC_000001.10:g.2235388C>T	VUS	1 lab	f0d166dee0
X:134990286 SAGE1 G>A	X	134990286	134990286	G	A	SAGE1	c.1198G>A	NM_018666.2	NP_061136.2:p.(Asp400Asn)	NC_000023.10:g.134990286G>A	(Likely) benign	1 lab	f0d180a46c
1:159842807 CFAP45 G>A	1	159842807	159842807	G	A	CFAP45	c.1504C>T	NM_012337.3	NP_036469.2:p.(Arg502Cys)	NC_000001.10:g.159842807G>A	VUS	1 lab	f0d1de00b1
12:7848202 GDF3 G>C	12	7848202	7848202	G	C	GDF3	c.123C>G	NM_020634.2	NP_065685.1:p.(Pro41=)	NC_000012.11:g.7848202G>C	(Likely) benign	1 lab	f0d2fc143b
1:65845186 DNAJC6 T>C	1	65845186	65845186	T	C	DNAJC6	c.645T>C	NM_001256864.2	NP_001243793.1:p.(Asn215=)	NC_000001.10:g.65845186T>C	(Likely) benign	1 lab	f0d32f15ff
12:13717544 GRIN2B C>T	12	13717544	13717544	C	T	GRIN2B	c.2628G>A	NM_000834.4	NP_000825.2:p.(Ala876=)	NC_000012.11:g.13717544C>T	(Likely) benign	1 lab	f0d6239e7b
8:97172487 GDF6 G>T	8	97172487	97172487	G	T	GDF6	c.406+28C>A	NM_001001557.3	NP_001001557.1:p.?	NC_000008.10:g.97172487G>T	(Likely) benign	1 lab	f0d731f518
19:45682571 BLOC1S3 G>A	19	45682571	45682571	G	A	BLOC1S3	c.17G>A	NM_212550.4	NP_997715.1:p.(Arg6His)	NC_000019.9:g.45682571G>A	VUS	1 lab	f0d7477f0b
13:32893451 BRCA2 A>G	13	32893451	32893451	A	G	BRCA2				NC_000013.10:g.32893451A>G	(Likely) benign	1 lab	2bf76310c9
2:166613629 GALNT3 T>C	2	166613629	166613629	T	C	GALNT3	c.1320A>G	NM_004482.3	NP_004473.2:p.(Ala440=)	NC_000002.11:g.166613629T>C	(Likely) benign	1 lab	f0d797d16b
19:43373068 PSG1 A>C	19	43373068	43373068	A	C	PSG1	c.828T>G	NM_006905.2	NP_008836.2:p.(Asn276Lys)	NC_000019.9:g.43373068A>C	(Likely) benign	1 lab	f0d7b19a65
19:4543947 SEMA6B C>G	19	4543947	4543947	C	G	SEMA6B	c.2333G>C	NM_032108.4	NP_115484.2:p.(Arg778Pro)	NC_000019.9:g.4543947C>G	(Likely) benign	1 lab	f0d9a71edf
7:42116380 GLI3 G>A	7	42116380	42116380	G	A	GLI3	c.444C>T	NM_000168.5	NP_000159.3:p.(Tyr148=)	NC_000007.13:g.42116380G>A	(Likely) benign	1 lab	f0da8fb3cd
1:22155493 HSPG2 G>A	1	22155493	22155493	G	A	HSPG2	c.12075C>T	NM_001291860.1	NP_001278789.1:p.(Asp4025=)	NC_000001.10:g.22155493G>A	(Likely) benign	1 lab	f0db41816e
X:12735862 FRMPD4 G>C	X	12735862	12735862	G	C	FRMPD4	c.2917G>C	NM_014728.3	NP_055543.2:p.(Ala973Pro)	NC_000023.10:g.12735862G>C	(Likely) benign	1 lab	f0dd8c77a4
6:112389440 CCN6 A>T	6	112389440	112389440	A	T	CCN6	c.676A>T	NM_198239.1	NP_937882.1:p.(Lys226Ter)	NC_000006.11:g.112389440A>T	(Likely) pathogenic	1 lab	f0debfe900
6:33403336 SYNGAP1 G>T	6	33403336	33403336	G	T	SYNGAP1	c.708G>T	NM_006772.2	NP_006763.2:p.(Ala236=)	NC_000006.11:g.33403336G>T	(Likely) benign	1 lab	f0e045e20f
1:161137803 PPOX A>AC	1	161137803	161137809	A	AC	PPOX	c.363dup	NM_000309.4	NP_000300.1:p.(Phe122LeufsTer22)	NC_000001.10:g.161137809dup	(Likely) pathogenic	1 lab	f0e1335a1f
16:57484981 COQ9 C>T	16	57484981	57484981	C	T	COQ9	c.103C>T	NM_020312.3	NP_064708.1:p.(Arg35Cys)	NC_000016.9:g.57484981C>T	VUS	1 lab	f0e14da7b3
2:179582872 TTN C>T	2	179582872	179582872	C	T	TTN	c.24861G>A	NM_001267550.1	NP_001254479.1:p.(Val8287=)	NC_000002.11:g.179582872C>T	(Likely) benign	1 lab	f0e4147a22
X:13791078 GPM6B C>G	X	13791078	13791078	C	G	GPM6B	c.909G>C	NM_001001995.3	NP_001001995.1:p.(Gln303His)	NC_000023.10:g.13791078C>G	VUS	1 lab	f0e415031d
1:47753301 STIL C>T	1	47753301	47753301	C	T	STIL	c.1055G>A	NM_001282936.1	NP_001269865.1:p.(Arg352His)	NC_000001.10:g.47753301C>T	(Likely) benign	1 lab	f0e43b7695
6:88258335 RARS2 A>G	6	88258335	88258335	A	G	RARS2	c.425T>C	NM_020320.4	NP_064716.2:p.(Val142Ala)	NC_000006.11:g.88258335A>G	(Likely) benign	1 lab	f0e5d848f9
15:91337448 BLM A>G	15	91337448	91337448	A	G	BLM	c.1946A>G	NM_001287248.1	NP_001274177.1:p.(Tyr649Cys)	NC_000015.9:g.91337448A>G	VUS	1 lab	f0e6b4dd24
17:36636008 ARHGAP23 C>T	17	36636008	36636008	C	T	ARHGAP23	c.2513C>T	NM_001199417.2	NP_001186346.1:p.(Pro838Leu)	NC_000017.10:g.36636008C>T	(Likely) benign	1 lab	f0e6c736bd
19:21588637 ZNF493 A>G	19	21588637	21588637	A	G	ZNF493	c.232A>G	NM_001076678.2	NP_001070146.1:p.(Ser78Gly)	NC_000019.9:g.21588637A>G	VUS	1 lab	f0e7529eae
11:67810958 TCIRG1 C>G	11	67810958	67810958	C	G	TCIRG1				NC_000011.9:g.67810958C>G	VUS	1 lab	f0e7f2cddb
3:195510910 MUC4 G>T	3	195510910	195510910	G	T	MUC4	c.7541C>A	NM_018406.6	NP_060876.5:p.(Pro2514His)	NC_000003.11:g.195510910G>T	(Likely) benign	1 lab	f0e80de142
17:36489232 GPR179 A>T	17	36489232	36489232	A	T	GPR179	c.1939T>A	NM_001004334.3	NP_001004334.3:p.(Cys647Ser)	NC_000017.10:g.36489232A>T	VUS	1 lab	f0e83e3fb6
16:89258824 CDH15 C>G	16	89258824	89258824	C	G	CDH15	c.1827C>G	NM_004933.2	NP_004924.1:p.(Ile609Met)	NC_000016.9:g.89258824C>G	VUS	1 lab	f0ea0dd094
6:41877046 MED20 C>T	6	41877046	41877046	C	T	MED20	c.198G>A	NM_001305456.1	NP_001292385.1:p.(Thr66=)	NC_000006.11:g.41877046C>T	(Likely) benign	1 lab	f0ea7d8fed
Y:14837143 USP9Y G>A	Y	14837143	14837143	G	A	USP9Y	c.423G>A	NM_004654.3	NP_004645.2:p.(Trp141Ter)	NC_000024.9:g.14837143G>A	(Likely) pathogenic	1 lab	f0eadf821b
9:117848673 TNC C>T	9	117848673	117848673	C	T	TNC	c.1337G>A	NM_002160.3	NP_002151.2:p.(Arg446Gln)	NC_000009.11:g.117848673C>T	VUS	1 lab	f0ec4cf718
18:3447775 TGIF1 C>G	18	3447775	3447775	C	G	TGIF1	c.38C>G	NM_173207.2	NP_775299.1:p.(Ser13Ter)	NC_000018.9:g.3447775C>G	(Likely) benign	1 lab	f0ecbec200
13:23909533 SACS T>C	13	23909533	23909533	T	C	SACS	c.8482A>G	NM_014363.5	NP_055178.3:p.(Ser2828Gly)	NC_000013.10:g.23909533T>C	(Likely) benign	1 lab	f0ecd74448
12:49437202 KMT2D C>A	12	49437202	49437202	C	A	KMT2D	c.5477G>T	NM_003482.3	NP_003473.3:p.(Gly1826Val)	NC_000012.11:g.49437202C>A	VUS	1 lab	f0ee8494d7
12:25679857 LMNTD1 T>G	12	25679857	25679857	T	G	LMNTD1	c.272A>C	NM_001145727.2	NP_001139199.1:p.(Asn91Thr)	NC_000012.11:g.25679857T>G	VUS	1 lab	f0f0d2f77d
4:71509211 ENAM C>T	4	71509211	71509211	C	T	ENAM				NC_000004.11:g.71509211C>T	(Likely) pathogenic	1 lab	2c2a928d6e
3:52022794 ACY1 G>A	3	52022794	52022794	G	A	ACY1	c.1014G>A	NM_000666.2	NP_000657.1:p.(Leu338=)	NC_000003.11:g.52022794G>A	(Likely) benign	1 lab	f0f223f7e1
11:17656385 OTOG G>A	11	17656385	17656385	G	A	OTOG	c.7517-6G>A	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17656385G>A	(Likely) benign	1 lab	f0f312df1d
22:19753444 TBX1 G>T	22	19753444	19753444	G	T	TBX1	c.928G>T	NM_080647.1	NP_542378.1:p.(Gly310Cys)	NC_000022.10:g.19753444G>T	VUS	1 lab	f0f4bcf115
9:95015698 IARS1 C>T	9	95015698	95015698	C	T	IARS1	c.2175G>A	NM_013417.3	NP_038203.2:p.(Lys725=)	NC_000009.11:g.95015698C>T	(Likely) benign	1 lab	f0f5ce7799
2:179426859 TTN A>G	2	179426859	179426859	A	G	TTN	c.84000T>C	NM_001267550.1	NP_001254479.1:p.(Gly28000=)	NC_000002.11:g.179426859A>G	(Likely) benign	1 lab	f0f5f55ad7
15:58971329 ADAM10 C>A	15	58971329	58971329	C	A	ADAM10	c.478G>T	NM_001110.4	NP_001101.1:p.(Asp160Tyr)	NC_000015.9:g.58971329C>A	VUS	1 lab	f0f88e2c30
19:54395040 PRKCG G>A	19	54395040	54395040	G	A	PRKCG	c.642G>A	NM_002739.3	NP_002730.1:p.(Thr214=)	NC_000019.9:g.54395040G>A	(Likely) benign	1 lab	f0f904d728
7:103194254 RELN A>G	7	103194254	103194254	A	G	RELN	c.5822T>C	NM_173054.2	NP_774959.1:p.(Val1941Ala)	NC_000007.13:g.103194254A>G	(Likely) benign	1 lab	f0f95ae3be
8:42693146 THAP1 G>A	8	42693146	42693146	G	A	THAP1	c.601C>T	NM_018105.2	NP_060575.1:p.(Leu201=)	NC_000008.10:g.42693146G>A	(Likely) benign	1 lab	f0f9806d65
18:67872430 RTTN T>C	18	67872430	67872430	T	C	RTTN	c.153A>G	NM_173630.3	NP_775901.3:p.(Glu51=)	NC_000018.9:g.67872430T>C	(Likely) benign	1 lab	f0f9872fc3
12:83289939 TMTC2 G>A	12	83289939	83289939	G	A	TMTC2	c.997G>A	NM_152588.3	NP_689801.1:p.(Val333Ile)	NC_000012.11:g.83289939G>A	VUS	1 lab	f0fa1c9db9
7:44104613 PGAM2 T>TG	7	44104613	44104618	T	TG	PGAM2	c.415-3dup	NM_000290.3	NP_000281.2:p.?	NC_000007.13:g.44104618dup	VUS	1 lab	fb2be6a1a9
7:151168534 RHEB G>A	7	151168534	151168534	G	A	RHEB	c.333-7C>T	NM_005614.4	NP_005605.1:p.?	NC_000007.13:g.151168534G>A	(Likely) benign	1 lab	f0fc569130
1:43891273 SZT2 A>T	1	43891273	43891273	A	T	SZT2	c.2774A>T	NM_015284.3	NP_056099.3:p.(Lys925Met)	NC_000001.10:g.43891273A>T	VUS	1 lab	f0fe3f79ea
14:88417054 GALC AG>A	14	88417054	88417056	AG	A	GALC	c.1199del	NM_000153.4	NP_000144.2:p.(Pro400LeufsTer57)	NC_000014.8:g.88417056del	(Likely) pathogenic	1 lab	f0ff799730
2:209190723 PIKFYVE G>T	2	209190723	209190723	G	T	PIKFYVE	c.3188G>T	NM_015040.3	NP_055855.2:p.(Arg1063Leu)	NC_000002.11:g.209190723G>T	VUS	1 lab	f0ff8040f3
6:137536417 IFNGR1 T>C	6	137536417	137536417	T	C	IFNGR1	c.85+3963A>G	NM_000416.2	NP_000407.1:p.?	NC_000006.11:g.137536417T>C	VUS	1 lab	f100d2636f
14:64653220 SYNE2 G>A	14	64653220	64653220	G	A	SYNE2	c.17635G>A	NM_182914.2	NP_878918.2:p.(Val5879Ile)	NC_000014.8:g.64653220G>A	(Likely) benign	1 lab	f104542b23
6:1611523 FOXC1 G>T	6	1611523	1611523	G	T	FOXC1	c.843G>T	NM_001453.3	NP_001444.2:p.(Arg281=)	NC_000006.11:g.1611523G>T	(Likely) benign	1 lab	f1045f9fd6
16:2034758 GFER A>G	16	2034758	2034758	A	G	GFER	c.269A>G	NM_005262.2	NP_005253.3:p.(Lys90Arg)	NC_000016.9:g.2034758A>G	(Likely) benign	1 lab	f104d21e0f
12:13720104 GRIN2B A>G	12	13720104	13720104	A	G	GRIN2B	c.2453T>C	NM_000834.4	NP_000825.2:p.(Met818Thr)	NC_000012.11:g.13720104A>G	(Likely) pathogenic	1 lab	f1081bb86c
13:31903771 B3GLCT A>G	13	31903771	31903771	A	G	B3GLCT	c.1463A>G	NM_194318.3	NP_919299.3:p.(Gln488Arg)	NC_000013.10:g.31903771A>G	VUS	1 lab	f1090059cc
11:31671677 ELP4 C>T	11	31671677	31671677	C	T	ELP4	c.1051C>T	NM_001288726.1	NP_001275655.1:p.(Arg351Trp)	NC_000011.9:g.31671677C>T	VUS	1 lab	f1094c9ff5
19:9061840 MUC16 T>C	19	9061840	9061840	T	C	MUC16	c.25606A>G	NM_024690.2	NP_078966.2:p.(Met8536Val)	NC_000019.9:g.9061840T>C	VUS	1 lab	f10b7e48af
2:179584878 TTN C>G	2	179584878	179584878	C	G	TTN	c.23491G>C	NM_001267550.1	NP_001254479.1:p.(Asp7831His)	NC_000002.11:g.179584878C>G	VUS	1 lab	f10bd5fec1
8:52567247 PXDNL A>C	8	52567247	52567247	A	C	PXDNL	c.236+2T>G	NM_144651.5	NP_653252.4:p.?	NC_000008.10:g.52567247A>C	VUS	1 lab	f10ef615fb
16:75239378 CTRB2 C>T	16	75239378	75239378	C	T	CTRB2	c.349G>A	NM_001025200.4	NP_001020371.3:p.(Val117Met)	NC_000016.9:g.75239378C>T	(Likely) benign	1 lab	f10f9d1953
15:100801812 ADAMTS17 C>T	15	100801812	100801812	C	T	ADAMTS17	c.903G>A	NM_139057.3	NP_620688.2:p.(Glu301=)	NC_000015.9:g.100801812C>T	(Likely) benign	1 lab	f10fa66137
10:13178740 OPTN C>T	10	13178740	13178740	C	T	OPTN	c.1613-5C>T	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13178740C>T	(Likely) benign	1 lab	f110e4d582
X:69623811 KIF4A G>A	X	69623811	69623811	G	A	KIF4A	c.2717G>A	NM_012310.4	NP_036442.3:p.(Arg906Gln)	NC_000023.10:g.69623811G>A	VUS	1 lab	f113be9a93
22:28192801 MN1 G>A	22	28192801	28192801	G	A	MN1	c.3731C>T	NM_002430.2	NP_002421.3:p.(Thr1244Met)	NC_000022.10:g.28192801G>A	VUS	1 lab	f114aa1d79
17:1554990 PRPF8 G>C	17	1554990	1554990	G	C	PRPF8	c.6462C>G	NM_006445.3	NP_006436.3:p.(His2154Gln)	NC_000017.10:g.1554990G>C	VUS	1 lab	f114bcdb82
8:6302612 MCPH1 G>A	8	6302612	6302612	G	A	MCPH1	c.1369G>A	NM_024596.4	NP_078872.2:p.(Glu457Lys)	NC_000008.10:g.6302612G>A	(Likely) benign	1 lab	f11617d046
14:105410313 AHNAK2 C>G	14	105410313	105410313	C	G	AHNAK2	c.11475G>C	NM_138420.3	NP_612429.2:p.(Ser3825=)	NC_000014.8:g.105410313C>G	(Likely) benign	1 lab	f11686a151
3:14190078 XPC C>T	3	14190078	14190078	C	T	XPC	c.2404G>A	NM_004628.4	NP_004619.3:p.(Gly802Ser)	NC_000003.11:g.14190078C>T	VUS	1 lab	f1188a3f8b
3:52441468 BAP1 T>G	3	52441468	52441468	T	G	BAP1	c.384A>C	NM_004656.2	NP_004647.1:p.(Gly128=)	NC_000003.11:g.52441468T>G	(Likely) benign	1 lab	f11963d3e3
19:22363921 ZNF676 C>G	19	22363921	22363921	C	G	ZNF676	c.598G>C	NM_001001411.2	NP_001001411.2:p.(Glu200Gln)	NC_000019.9:g.22363921C>G	VUS	1 lab	f119b8dd11
3:148458990 AGTR1 T>G	3	148458990	148458990	T	G	AGTR1	c.273T>G	NM_031850.3	NP_114038.4:p.(Tyr91Ter)	NC_000003.11:g.148458990T>G	(Likely) pathogenic	1 lab	f11b520c4f
8:126052083 WASHC5 G>A	8	126052083	126052083	G	A	WASHC5	c.2908C>T	NM_014846.3	NP_055661.3:p.(Arg970Trp)	NC_000008.10:g.126052083G>A	VUS	1 lab	f11c136397
3:123456295 MYLK C>A	3	123456295	123456295	C	A	MYLK	c.684G>T	NM_053025.3	NP_444253.3:p.(Val228=)	NC_000003.11:g.123456295C>A	(Likely) benign	1 lab	f11e34de76
19:8997530 MUC16 C>A	19	8997530	8997530	C	A	MUC16	c.40892G>T	NM_024690.2	NP_078966.2:p.(Ser13631Ile)	NC_000019.9:g.8997530C>A	VUS	1 lab	f11e8adb46
1:53279398 ZYG11B A>T	1	53279398	53279398	A	T	ZYG11B	c.1886A>T	NM_024646.3	NP_078922.1:p.(Asp629Val)	NC_000001.10:g.53279398A>T	VUS	1 lab	f11fb45ca3
12:48391697 COL2A1 C>T	12	48391697	48391697	C	T	COL2A1	c.386G>A	NM_001844.4	NP_001835.3:p.(Gly129Glu)	NC_000012.11:g.48391697C>T	(Likely) pathogenic	1 lab	f1207f82f0
14:105419783 AHNAK2 C>T	14	105419783	105419783	C	T	AHNAK2	c.2005G>A	NM_138420.3	NP_612429.2:p.(Ala669Thr)	NC_000014.8:g.105419783C>T	VUS	1 lab	f121dd1af1
14:94420712 ASB2 G>A	14	94420712	94420712	G	A	ASB2	c.429C>T	NM_001202429.1	NP_001189358.1:p.(His143=)	NC_000014.8:g.94420712G>A	(Likely) benign	1 lab	f124dade59
10:73567308 CDH23 G>A	10	73567308	73567308	G	A	CDH23	c.8344G>A	NM_022124.5	NP_071407.4:p.(Asp2782Asn)	NC_000010.10:g.73567308G>A	VUS	1 lab	f12599db33
20:31379501 DNMT3B A>G	20	31379501	31379501	A	G	DNMT3B	c.908A>G	NM_006892.3	NP_008823.1:p.(Tyr303Cys)	NC_000020.10:g.31379501A>G	VUS	1 lab	f127ae937b
9:13247724 MPDZ G>C	9	13247724	13247724	G	C	MPDZ	c.93C>G	NM_001330637.1	NP_001317566.1:p.(Asp31Glu)	NC_000009.11:g.13247724G>C	VUS	1 lab	f127f48eff
20:25271155 PYGB G>C	20	25271155	25271155	G	C	PYGB	c.1866G>C	NM_002862.4	NP_002853.2:p.(Lys622Asn)	NC_000020.10:g.25271155G>C	VUS	1 lab	f129affe2b
3:142985628 SLC9A9 C>T	3	142985628	142985628	C	T	SLC9A9	c.1854G>A	NM_173653.3	NP_775924.1:p.(Lys618=)	NC_000003.11:g.142985628C>T	(Likely) benign	1 lab	f129e8bb9e
2:128017009 ERCC3 C>T	2	128017009	128017009	C	T	ERCC3	c.1888G>A	NM_001303418.1	NP_001290347.1:p.(Ala630Thr)	NC_000002.11:g.128017009C>T	(Likely) benign	1 lab	f12b45e713
10:55600100 PCDH15 G>A	10	55600100	55600100	G	A	PCDH15	c.3963C>T	NM_001354429.1	NP_001341358.1:p.(Ile1321=)	NC_000010.10:g.55600100G>A	(Likely) benign	1 lab	f12e5b6458
4:126242623 FAT4 A>G	4	126242623	126242623	A	G	FAT4	c.5057A>G	NM_024582.4	NP_078858.4:p.(His1686Arg)	NC_000004.11:g.126242623A>G	VUS	1 lab	f12ec666c6
10:55566546 PCDH15 T>C	10	55566546	55566546	T	C	PCDH15				NC_000010.10:g.55566546T>C	(Likely) benign	1 lab	f12f6ad21f
13:32889669 BRCA2 C>T	13	32889669	32889669	C	T	BRCA2				NC_000013.10:g.32889669C>T	(Likely) benign	1 lab	2cad4378b5
16:2138001 TSC2 T>TGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACC	16	2138001	2138036	T	TGTGGCGCCAAGAGCCCTGGGCCTGGCGTGACCACC	TSC2	c.5069-47_5069-13dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138002_2138036dup	(Likely) benign	1 lab	f12f7d6a93
3:46743011 TMIE G>T	3	46743011	46743011	G	T	TMIE	c.34G>T	NM_147196.2	NP_671729.2:p.(Val12Leu)	NC_000003.11:g.46743011G>T	(Likely) benign	1 lab	f130046af4
12:56398118 SUOX C>T	12	56398118	56398118	C	T	SUOX	c.945C>T	NM_000456.2	NP_000447.2:p.(His315=)	NC_000012.11:g.56398118C>T	(Likely) benign	1 lab	f130788317
19:45860724 ERCC2 G>A	19	45860724	45860724	G	A	ERCC2	c.1377+8C>T	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45860724G>A	(Likely) benign	1 lab	f1311a0db3
X:110388143 PAK3 G>A	X	110388143	110388143	G	A	PAK3	c.332G>A	NM_001128168.2	NP_001121640.1:p.(Gly111Glu)	NC_000023.10:g.110388143G>A	(Likely) benign	1 lab	f1311d4159
1:233353666 PCNX2 A>G	1	233353666	233353666	A	G	PCNX2	c.2670T>C	NM_014801.3	NP_055616.3:p.(Pro890=)	NC_000001.10:g.233353666A>G	(Likely) benign	1 lab	f1340c6774
8:55540288 RP1 T>A	8	55540288	55540288	T	A	RP1	c.3846T>A	NM_006269.1	NP_006260.1:p.(Pro1282=)	NC_000008.10:g.55540288T>A	(Likely) benign	1 lab	f134cdebbd
6:167343095 RNASET2 G>A	6	167343095	167343095	G	A	RNASET2				NC_000006.11:g.167343095G>A	VUS	1 lab	f13565021d
2:15319171 NBAS C>T	2	15319171	15319171	C	T	NBAS	c.6781G>A	NM_015909.3	NP_056993.2:p.(Glu2261Lys)	NC_000002.11:g.15319171C>T	VUS	1 lab	f1357a7ba0
6:76624662 MYO6 A>G	6	76624662	76624662	A	G	MYO6	c.3791A>G	NM_004999.3	NP_004990.3:p.(Asn1264Ser)	NC_000006.11:g.76624662A>G	VUS	1 lab	f136379ed5
1:152276735 FLG T>C	1	152276735	152276735	T	C	FLG	c.10627A>G	NM_002016.1	NP_002007.1:p.(Ser3543Gly)	NC_000001.10:g.152276735T>C	VUS	1 lab	f137a2f630
1:40775980 COL9A2 C>T	1	40775980	40775980	C	T	COL9A2	c.694G>A	NM_001852.4	NP_001843.1:p.(Gly232Ser)	NC_000001.10:g.40775980C>T	VUS	1 lab	f13897903c
17:27068256 NEK8 T>C	17	27068256	27068256	T	C	NEK8	c.1891+2T>C	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27068256T>C	(Likely) pathogenic	1 lab	f13a1591b1
11:108154980 ATM A>G	11	108154980	108154980	A	G	ATM	c.3773A>G	NM_001351834.1	NP_001338763.1:p.(His1258Arg)	NC_000011.9:g.108154980A>G	(Likely) benign	1 lab	f13afb7508
X:140983101 MAGEC3 C>T	X	140983101	140983101	C	T	MAGEC3	c.956C>T	NM_138702.1	NP_619647.1:p.(Ala319Val)	NC_000023.10:g.140983101C>T	VUS	1 lab	f13c065865
X:9864448 SHROOM2 C>T	X	9864448	9864448	C	T	SHROOM2	c.2500C>T	NM_001649.3	NP_001640.1:p.(Arg834Cys)	NC_000023.10:g.9864448C>T	VUS	1 lab	f13c603c1f
22:20939467 MED15 G>T	22	20939467	20939467	G	T	MED15	c.1846G>T	NM_001293237.1	NP_001280166.1:p.(Val616Leu)	NC_000022.10:g.20939467G>T	VUS	1 lab	f13dc71cac
17:35640231 ACACA G>T	17	35640231	35640231	G	T	ACACA	c.436C>A	NM_198839.2	NP_942136.1:p.(Arg146=)	NC_000017.10:g.35640231G>T	(Likely) benign	1 lab	f1401505c4
12:129308181 SLC15A4 G>A	12	129308181	129308181	G	A	SLC15A4	c.308C>T	NM_145648.4	NP_663623.1:p.(Ala103Val)	NC_000012.11:g.129308181G>A	VUS	1 lab	f1403e2b45
19:48305132 TPRX1 TC>T	19	48305132	48305136	TC	T	TPRX1	c.1300del	NM_001397346.1	NP_001384275.1:p.(Asp434MetfsTer20)	NC_000019.9:g.48305136del	VUS	1 lab	f141a44a19
20:14307828 FLRT3 A>C	20	14307828	14307828	A	C	FLRT3	c.325T>G	NM_198391.2	NP_938205.1:p.(Leu109Val)	NC_000020.10:g.14307828A>C	VUS	1 lab	f142a3c85e
8:126059468 WASHC5 G>A	8	126059468	126059468	G	A	WASHC5	c.2485C>T	NM_014846.3	NP_055661.3:p.(Leu829=)	NC_000008.10:g.126059468G>A	(Likely) benign	1 lab	f142b7905e
1:237817626 RYR2 G>T	1	237817626	237817626	G	T	RYR2	c.7877G>T	NM_001035.2	NP_001026.2:p.(Gly2626Val)	NC_000001.10:g.237817626G>T	VUS	1 lab	f14392c29f
19:4054525 ZBTB7A C>CGTCCCCG	19	4054525	4054532	C	CGTCCCCG	ZBTB7A	c.699_705dup	NM_015898.4	NP_056982.1:p.(Glu236ArgfsTer16)	NC_000019.9:g.4054526_4054532dup	VUS	1 lab	f14649ec3c
5:149498325 PDGFRB G>A	5	149498325	149498325	G	A	PDGFRB	c.2889C>T	NM_002609.3	NP_002600.1:p.(Gly963=)	NC_000005.9:g.149498325G>A	(Likely) benign	1 lab	f147a21d05
9:14857584 FREM1 G>T	9	14857584	14857584	G	T	FREM1	c.795C>A	NM_144966.5	NP_659403.4:p.(Asp265Glu)	NC_000009.11:g.14857584G>T	VUS	1 lab	f148d03487
7:50097728 ZPBP C>T	7	50097728	50097728	C	T	ZPBP	c.344G>A	NM_007009.3	NP_008940.2:p.(Arg115His)	NC_000007.13:g.50097728C>T	(Likely) benign	1 lab	f1494898e1
2:202609063 ALS2 G>A	2	202609063	202609063	G	A	ALS2	c.2088C>T	NM_020919.3	NP_065970.2:p.(His696=)	NC_000002.11:g.202609063G>A	(Likely) benign	1 lab	f149c01b1c
16:1573895 IFT140 G>A	16	1573895	1573895	G	A	IFT140	c.3204C>T	NM_014714.3	NP_055529.2:p.(Ile1068=)	NC_000016.9:g.1573895G>A	(Likely) benign	1 lab	f149db4188
9:91949566 SECISBP2 T>TACC	9	91949566	91949567	T	TACC	SECISBP2	c.806_807insACC	NM_001282690.1	NP_001269619.1:p.(Val269_Ser270insPro)	NC_000009.11:g.91949566_91949567insACC	VUS	1 lab	f14cd637e1
22:18301772 MICAL3 C>G	22	18301772	18301772	C	G	MICAL3	c.3655G>C	NM_015241.3	NP_056056.2:p.(Val1219Leu)	NC_000022.10:g.18301772C>G	(Likely) benign	1 lab	f153d5f41e
6:31604010 PRRC2A C>G	6	31604010	31604010	C	G	PRRC2A	c.5649C>G	NM_004638.3	NP_004629.3:p.(Pro1883=)	NC_000006.11:g.31604010C>G	(Likely) benign	1 lab	f153db3226
15:99465660 IGF1R G>T	15	99465660	99465660	G	T	IGF1R	c.2485G>T	NM_000875.4	NP_000866.1:p.(Glu829Ter)	NC_000015.9:g.99465660G>T	(Likely) pathogenic	1 lab	f1545976bb
11:6549999 DNHD1 A>G	11	6549999	6549999	A	G	DNHD1	c.2085A>G	NM_144666.2	NP_653267.2:p.(Ile695Met)	NC_000011.9:g.6549999A>G	(Likely) benign	1 lab	f154b45a5e
8:145698657 KIFC2 C>A	8	145698657	145698657	C	A	KIFC2	c.2341C>A	NM_145754.3	NP_665697.1:p.(Leu781Ile)	NC_000008.10:g.145698657C>A	(Likely) benign	1 lab	f155d0c3f4
16:2156184 PKD1 G>A	16	2156184	2156184	G	A	PKD1	c.7611C>T	NM_001009944.2	NP_001009944.2:p.(Ala2537=)	NC_000016.9:g.2156184G>A	(Likely) benign	1 lab	f156aa1ee9
4:7705917 SORCS2 G>A	4	7705917	7705917	G	A	SORCS2	c.1774G>A	NM_020777.2	NP_065828.2:p.(Glu592Lys)	NC_000004.11:g.7705917G>A	VUS	1 lab	f15bc1b45f
20:3891347 PANK2 T>C	20	3891347	3891347	T	C	PANK2	c.232T>C	NM_001324191.1	NP_001311120.1:p.(Ser78Pro)	NC_000020.10:g.3891347T>C	VUS	1 lab	f15bd4c9ac
15:48760680 FBN1 T>C	15	48760680	48760680	T	C	FBN1	c.4511A>G	NM_000138.4	NP_000129.3:p.(Asn1504Ser)	NC_000015.9:g.48760680T>C	VUS	1 lab	f15bf77fc3
2:68385590 PNO1 T>C	2	68385590	68385590	T	C	PNO1	c.286T>C	NM_020143.4	NP_064528.1:p.(Phe96Leu)	NC_000002.11:g.68385590T>C	VUS	1 lab	f15c2319bb
2:179622412 TTN A>G	2	179622412	179622412	A	G	TTN	c.10535T>C	NM_001267550.1	NP_001254479.1:p.(Val3512Ala)	NC_000002.11:g.179622412A>G	VUS	1 lab	f15c4e6481
X:70597601 TAF1 G>A	X	70597601	70597601	G	A	TAF1	c.923G>A	NM_001286074.1	NP_001273003.1:p.(Ser308Asn)	NC_000023.10:g.70597601G>A	(Likely) benign	1 lab	f15ce74935
19:11114083 SMARCA4 C>T	19	11114083	11114083	C	T	SMARCA4	c.2001+10C>T	NM_001128844.1	NP_001122316.1:p.?	NC_000019.9:g.11114083C>T	(Likely) benign	1 lab	f15e0bcb06
5:82817330 VCAN G>A	5	82817330	82817330	G	A	VCAN	c.3205G>A	NM_004385.4	NP_004376.2:p.(Asp1069Asn)	NC_000005.9:g.82817330G>A	VUS	1 lab	f15e61dae6
7:73668649 RFC2 G>A	7	73668649	73668649	G	A	RFC2	c.65C>T	NM_181471.2	NP_852136.1:p.(Pro22Leu)	NC_000007.13:g.73668649G>A	(Likely) benign	1 lab	f15ef502f0
8:144995753 PLEC G>A	8	144995753	144995753	G	A	PLEC	c.8647C>T	NM_201380.3	NP_958782.1:p.(Arg2883Trp)	NC_000008.10:g.144995753G>A	VUS	1 lab	f15f086f2f
1:228526004 OBSCN G>A	1	228526004	228526004	G	A	OBSCN	c.19886G>A	NM_001271223.2	NP_001258152.2:p.(Trp6629Ter)	NC_000001.10:g.228526004G>A	VUS	1 lab	f16094eedb
1:47882161 FOXE3 C>T	1	47882161	47882161	C	T	FOXE3	c.174C>T	NM_012186.2	NP_036318.1:p.(Gly58=)	NC_000001.10:g.47882161C>T	(Likely) benign	1 lab	f160de0fc4
14:78028828 SPTLC2 C>G	14	78028828	78028828	C	G	SPTLC2	c.761G>C	NM_004863.3	NP_004854.1:p.(Cys254Ser)	NC_000014.8:g.78028828C>G	VUS	1 lab	f16233f3b4
11:6647784 DCHS1 T>C	11	6647784	6647784	T	C	DCHS1				NC_000011.9:g.6647784T>C	(Likely) benign	1 lab	f1623a7889
2:109379889 RANBP2 A>G	2	109379889	109379889	A	G	RANBP2	c.2894A>G	NM_006267.4	NP_006258.3:p.(Asn965Ser)	NC_000002.11:g.109379889A>G	VUS	1 lab	f162ec708a
20:19937289 RIN2 C>T	20	19937289	19937289	C	T	RIN2	c.336C>T	NM_001242581.1	NP_001229510.1:p.(Ser112=)	NC_000020.10:g.19937289C>T	(Likely) benign	1 lab	f163856c4e
1:156708375 MRPL24 C>T	1	156708375	156708375	C	T	MRPL24	c.122G>A	NM_024540.3	NP_078816.2:p.(Arg41Gln)	NC_000001.10:g.156708375C>T	VUS	1 lab	f164065fea
X:47101086 USP11 G>A	X	47101086	47101086	G	A	USP11	c.1296G>A	NM_004651.3	NP_004642.2:p.(Gly432=)	NC_000023.10:g.47101086G>A	(Likely) benign	1 lab	f166242d0c
9:5069145 JAK2 G>C	9	5069145	5069145	G	C	JAK2	c.1450G>C	NM_001322194.1	NP_001309123.1:p.(Glu484Gln)	NC_000009.11:g.5069145G>C	VUS	1 lab	f166ee56c0
X:73641728 SLC16A2 C>T	X	73641728	73641728	C	T	SLC16A2				NC_000023.10:g.73641728C>T	VUS	1 lab	2cb269e6f1
13:52548235 ATP7B A>C	13	52548235	52548235	A	C	ATP7B	c.1121T>G	NM_000053.3	NP_000044.2:p.(Val374Gly)	NC_000013.10:g.52548235A>C	VUS	1 lab	f167c12525
1:39878977 MACF1 A>G	1	39878977	39878977	A	G	MACF1	c.3040A>G	NM_015038.2	NP_055853.1:p.(Thr1014Ala)	NC_000001.10:g.39878977A>G	VUS	1 lab	f16872e9c1
14:65234055 SPTB GT>G	14	65234055	65234057	GT	G	SPTB	c.6234del	NM_001355436.2	NP_001342365.1:p.(Glu2078AspfsTer79)	NC_000014.8:g.65234057del	(Likely) pathogenic	1 lab	f1692bf580
10:81927002 ANXA11 C>T	10	81927002	81927002	C	T	ANXA11	c.629G>A	NM_145868.2	NP_665875.1:p.(Arg210Gln)	NC_000010.10:g.81927002C>T	VUS	1 lab	f16995050d
4:79366891 FRAS1 G>A	4	79366891	79366891	G	A	FRAS1	c.5881G>A	NM_001166133.1	NP_001159605.1:p.(Val1961Ile)	NC_000004.11:g.79366891G>A	(Likely) benign	1 lab	f16b191cb0
1:47746291 STIL T>C	1	47746291	47746291	T	C	STIL	c.1839A>G	NM_001048166.1	NP_001041631.1:p.(Gln613=)	NC_000001.10:g.47746291T>C	(Likely) benign	1 lab	f16b51e325
X:153599308 FLNA C>T	X	153599308	153599308	C	T	FLNA	c.306G>A	NM_001110556.2	NP_001104026.1:p.(Met102Ile)	NC_000023.10:g.153599308C>T	(Likely) pathogenic	1 lab	f16bf37081
17:6498313 KIAA0753 A>C	17	6498313	6498313	A	C	KIAA0753	c.1522T>G	NM_001351225.1	NP_001338154.1:p.(Trp508Gly)	NC_000017.10:g.6498313A>C	(Likely) benign	1 lab	f16c039a2f
16:2138251 TSC2 C>T	16	2138251	2138251	C	T	TSC2	c.5184C>T	NM_000548.3	NP_000539.2:p.(Ser1728=)	NC_000016.9:g.2138251C>T	(Likely) benign	1 lab	f16d51d3b8
17:38975303 KRT10 G>A	17	38975303	38975303	G	A	KRT10	c.1484C>T	NM_000421.3	NP_000412.3:p.(Ser495Phe)	NC_000017.10:g.38975303G>A	(Likely) benign	1 lab	f16d596776
16:2138041 TSC2 C>T	16	2138041	2138041	C	T	TSC2	c.5000-8C>T	NM_001114382.2	NP_001107854.1:p.?	NC_000016.9:g.2138041C>T	(Likely) benign	1 lab	f1713c7616
13:32972231 BRCA2 GTTAC>G	13	32972231	32972237	GTTAC	G	BRCA2	c.9649-65_9649-62del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972234_32972237del	(Likely) benign	1 lab	f171ea672c
13:36903627 SPART TTTC>T	13	36903627	36903637	TTTC	T	SPART	c.1033_1035del	NM_015087.5	NP_055902.1:p.(Glu345del)	NC_000013.10:g.36903635_36903637del	VUS	1 lab	f173c67882
12:124886979 NCOR2 C>T	12	124886979	124886979	C	T	NCOR2	c.1611G>A	NM_006312.5	NP_006303.4:p.(Glu537=)	NC_000012.11:g.124886979C>T	(Likely) benign	1 lab	f174299a43
8:126056082 WASHC5 G>A	8	126056082	126056082	G	A	WASHC5	c.2835C>T	NM_014846.3	NP_055661.3:p.(Leu945=)	NC_000008.10:g.126056082G>A	(Likely) benign	1 lab	f1756482ca
14:90754577 NRDE2 C>A	14	90754577	90754577	C	A	NRDE2	c.3142G>T	NM_017970.4	NP_060440.2:p.(Val1048Leu)	NC_000014.8:g.90754577C>A	(Likely) benign	1 lab	f178f7f8f7
9:116191655 C9orf43 G>A	9	116191655	116191655	G	A	C9orf43	c.1375G>A	NM_152786.2	NP_689999.1:p.(Gly459Arg)	NC_000009.11:g.116191655G>A	(Likely) benign	1 lab	f17945fafe
2:170012810 LRP2 C>T	2	170012810	170012810	C	T	LRP2	c.12125G>A	NM_004525.3	NP_004516.2:p.(Arg4042His)	NC_000002.11:g.170012810C>T	(Likely) benign	1 lab	f17ac77211
17:29676130 NF1 TTTTGTAGGGTAC>T	17	29676130	29676142	TTTTGTAGGGTAC	T	NF1	c.7190-7_7194del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676131_29676142del	(Likely) pathogenic	1 lab	f17b0000bf
5:169535588 FOXI1 C>G	5	169535588	169535588	C	G	FOXI1	c.1110C>G	NM_012188.4	NP_036320.2:p.(Leu370=)	NC_000005.9:g.169535588C>G	(Likely) benign	1 lab	f17d2cd362
X:11207028 ARHGAP6 G>A	X	11207028	11207028	G	A	ARHGAP6	c.897C>T	NM_013427.2	NP_038286.2:p.(Asp299=)	NC_000023.10:g.11207028G>A	(Likely) benign	1 lab	f17ede635d
17:1635952 WDR81 G>A	17	1635952	1635952	G	A	WDR81	c.4324-8G>A	NM_001163809.1	NP_001157281.1:p.?	NC_000017.10:g.1635952G>A	(Likely) benign	1 lab	f17fdd44fe
11:6415502 SMPD1 C>T	11	6415502	6415502	C	T	SMPD1	c.640C>T	NM_001318088.1	NP_001305017.1:p.(Leu214=)	NC_000011.9:g.6415502C>T	(Likely) benign	1 lab	f180d84e10
12:57604594 LRP1 C>T	12	57604594	57604594	C	T	LRP1	c.12848C>T	NM_002332.2	NP_002323.2:p.(Thr4283Ile)	NC_000012.11:g.57604594C>T	VUS	1 lab	f181e857d3
17:6331752 AIPL1 G>A	17	6331752	6331752	G	A	AIPL1	c.351C>T	NM_014336.4	NP_055151.3:p.(His117=)	NC_000017.10:g.6331752G>A	(Likely) benign	1 lab	f183db3406
16:31196453 FUS T>C	16	31196453	31196453	T	C	FUS	c.717T>C	NM_004960.3	NP_004951.1:p.(Tyr239=)	NC_000016.9:g.31196453T>C	(Likely) benign	1 lab	f185237f7e
1:243581286 SDCCAG8 G>A	1	243581286	243581286	G	A	SDCCAG8	c.1761G>A	NM_006642.4	NP_006633.1:p.(Leu587=)	NC_000001.10:g.243581286G>A	(Likely) benign	1 lab	f1852f9b00
11:6636228 TPP1 A>G	11	6636228	6636228	A	G	TPP1	c.1426-6T>C	NM_000391.3	NP_000382.3:p.?	NC_000011.9:g.6636228A>G	(Likely) benign	1 lab	f18746439c
X:49099850 CCDC22 G>T	X	49099850	49099850	G	T	CCDC22	c.636G>T	NM_014008.4	NP_054727.1:p.(Leu212=)	NC_000023.10:g.49099850G>T	(Likely) benign	1 lab	f18750cfec
7:147259238 CNTNAP2 G>A	7	147259238	147259238	G	A	CNTNAP2	c.1786G>A	NM_014141.5	NP_054860.1:p.(Glu596Lys)	NC_000007.13:g.147259238G>A	VUS	1 lab	f189356498
8:12943825 DLC1 G>A	8	12943825	12943825	G	A	DLC1	c.4440C>T	NM_182643.2	NP_872584.2:p.(Leu1480=)	NC_000008.10:g.12943825G>A	(Likely) benign	1 lab	f18a039edc
18:42618532 SETBP1 G>A	18	42618532	42618532	G	A	SETBP1	c.4083G>A	NM_015559.3	NP_056374.2:p.(Arg1361=)	NC_000018.9:g.42618532G>A	(Likely) benign	1 lab	f18a3b7292
20:3181102 DDRGK1 T>TG	20	3181102	3181105	T	TG	DDRGK1	c.296-3dup	NM_023935.3	NP_076424.1:p.?	NC_000020.10:g.3181105dup	VUS	1 lab	f18b2201d4
7:33296945 BBS9 G>A	7	33296945	33296945	G	A	BBS9	c.540G>A	NM_198428.2	NP_940820.1:p.(Leu180=)	NC_000007.13:g.33296945G>A	(Likely) benign	1 lab	f18cba5629
19:39008308 RYR1 C>G	19	39008308	39008308	C	G	RYR1	c.9995C>G	NM_000540.2	NP_000531.2:p.(Ala3332Gly)	NC_000019.9:g.39008308C>G	VUS	1 lab	f18cc2b3d5
5:140784984 PCDHGA9 T>TTTTTG	5	140784984	140785003	T	TTTTTG	PCDHGA9	c.2480_2484dup	NM_032089.1	NP_114478.1:p.(Ter829ValextTer?)	NC_000005.9:g.140784999_140785003dup	VUS	1 lab	f18e26e7f4
17:5462267 NLRP1 C>CT	17	5462267	5462274	C	CT	NLRP1	c.1748dup	NM_033004.4	NP_127497.1:p.(Thr584AspfsTer7)	NC_000017.10:g.5462274dup	VUS	1 lab	f18e4079fd
17:77808495 CBX4 C>T	17	77808495	77808495	C	T	CBX4	c.946G>A	NM_003655.3	NP_003646.2:p.(Ala316Thr)	NC_000017.10:g.77808495C>T	(Likely) benign	1 lab	f18fda6179
1:45340502 EIF2B3 T>C	1	45340502	45340502	T	C	EIF2B3	c.1054-4A>G	NM_020365.4	NP_065098.1:p.?	NC_000001.10:g.45340502T>C	(Likely) benign	1 lab	f191c32510
15:90176980 KIF7 G>A	15	90176980	90176980	G	A	KIF7	c.2529C>T	NM_198525.2	NP_940927.2:p.(Arg843=)	NC_000015.9:g.90176980G>A	(Likely) benign	1 lab	f19287270d
3:50327829 IFRD2 T>C	3	50327829	50327829	T	C	IFRD2	c.445A>G	NM_006764.4	NP_006755.4:p.(Thr149Ala)	NC_000003.11:g.50327829T>C	(Likely) benign	1 lab	f19359afbc
6:42666141 PRPH2 G>T	6	42666141	42666141	G	T	PRPH2	c.933C>A	NM_000322.4	NP_000313.2:p.(Ser311Arg)	NC_000006.11:g.42666141G>T	VUS	1 lab	f194537989
22:24584236 SUSD2 C>T	22	24584236	24584236	C	T	SUSD2	c.2385C>T	NM_019601.4	NP_062547.1:p.(Leu795=)	NC_000022.10:g.24584236C>T	(Likely) benign	1 lab	f1959d9a7b
11:121016731 TECTA G>A	11	121016731	121016731	G	A	TECTA	c.4011G>A	NM_005422.2	NP_005413.2:p.(Ala1337=)	NC_000011.9:g.121016731G>A	(Likely) benign	1 lab	f195cb5e00
9:135798732 TSC1 TA>T	9	135798732	135798733	TA	T	TSC1	c.508+2del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135798733del	(Likely) pathogenic	1 lab	f197bd8689
14:95669574 CLMN G>A	14	95669574	95669574	G	A	CLMN	c.2112C>T	NM_024734.4	NP_079010.2:p.(Ser704=)	NC_000014.8:g.95669574G>A	(Likely) benign	1 lab	f19b3d6816
3:49456708 AMT T>C	3	49456708	49456708	T	C	AMT	c.681A>G	NM_000481.3	NP_000472.2:p.(Gly227=)	NC_000003.11:g.49456708T>C	(Likely) benign	1 lab	f19bce17e0
5:147481420 SPINK5 G>T	5	147481420	147481420	G	T	SPINK5	c.1379G>T	NM_001127698.1	NP_001121170.1:p.(Gly460Val)	NC_000005.9:g.147481420G>T	VUS	1 lab	f1a310cb09
18:6912082 ARHGAP28 G>T	18	6912082	6912082	G	T	ARHGAP28	c.1642G>T	NM_001010000.2	NP_001010000.1:p.(Ala548Ser)	NC_000018.9:g.6912082G>T	VUS	1 lab	f1a5dc8f68
6:106992504 CRYBG1 G>A	6	106992504	106992504	G	A	CRYBG1	c.3874G>A	NM_001624.3	NP_001615.2:p.(Glu1292Lys)	NC_000006.11:g.106992504G>A	VUS	1 lab	f1a6bf3608
6:108985176 FOXO3 T>TG	6	108985176	108985179	T	TG	FOXO3	c.1143dup	NM_001455.4	NP_001446.1:p.(Leu382AlafsTer3)	NC_000006.11:g.108985179dup	VUS	1 lab	f1a756934a
9:135153493 SETX G>A	9	135153493	135153493	G	A	SETX	c.6806C>T	NM_015046.5	NP_055861.3:p.(Ser2269Phe)	NC_000009.11:g.135153493G>A	VUS	1 lab	f1a83ef68c
4:187542567 FAT1 G>A	4	187542567	187542567	G	A	FAT1	c.5173C>T	NM_005245.3	NP_005236.2:p.(Leu1725=)	NC_000004.11:g.187542567G>A	(Likely) benign	1 lab	f1a8dad4e6
20:62305387 RTEL1 C>T	20	62305387	62305387	C	T	RTEL1	c.860C>T	NM_001283009.1	NP_001269938.1:p.(Thr287Ile)	NC_000020.10:g.62305387C>T	(Likely) benign	1 lab	f1aa03bed6
7:76121468 DTX2 A>G	7	76121468	76121468	A	G	DTX2	c.909-2A>G	NM_020892.2	NP_065943.2:p.?	NC_000007.13:g.76121468A>G	VUS	1 lab	f1aae84163
2:172305177 DCAF17 C>TT	2	172305177	172305177	C	TT	DCAF17	c.322-14delinsTT	NM_025000.3	NP_079276.2:p.?	NC_000002.11:g.172305177delinsTT	(Likely) benign	1 lab	f1ab4f51c8
X:57934586 ZXDA C>T	X	57934586	57934586	C	T	ZXDA	c.2269G>A	NM_007156.4	NP_009087.1:p.(Val757Ile)	NC_000023.10:g.57934586C>T	(Likely) benign	1 lab	f1ab74d858
11:103156977 DYNC2H1 T>G	11	103156977	103156977	T	G	DYNC2H1	c.10912-7T>G	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103156977T>G	(Likely) benign	1 lab	f1b1eb2961
6:10410474 TFAP2A T>G	6	10410474	10410474	T	G	TFAP2A	c.122A>C	NM_001032280.2	NP_001027451.1:p.(His41Pro)	NC_000006.11:g.10410474T>G	VUS	1 lab	f1b1fc35f5
X:53223424 KDM5C C>T	X	53223424	53223424	C	T	KDM5C	c.3935G>A	NM_004187.3	NP_004178.2:p.(Arg1312His)	NC_000023.10:g.53223424C>T	(Likely) benign	1 lab	f1b3cc28ac
18:29041354 DSG3 A>T	18	29041354	29041354	A	T	DSG3	c.978A>T	NM_001944.3	NP_001935.2:p.(Glu326Asp)	NC_000018.9:g.29041354A>T	(Likely) benign	1 lab	f1b40edc66
14:105414468 AHNAK2 G>C	14	105414468	105414468	G	C	AHNAK2	c.7320C>G	NM_138420.3	NP_612429.2:p.(Pro2440=)	NC_000014.8:g.105414468G>C	(Likely) benign	1 lab	f1b45bba2e
2:179404623 TTN T>G	2	179404623	179404623	T	G	TTN	c.98169A>C	NM_001267550.1	NP_001254479.1:p.(Arg32723Ser)	NC_000002.11:g.179404623T>G	VUS	1 lab	f1b45ec867
20:57429691 GNAS G>C	20	57429691	57429691	G	C	GNAS	c.1184G>C	NM_001077490.2	NP_001070958.1:p.(Arg395Pro)	NC_000020.10:g.57429691G>C	(Likely) benign	1 lab	f1b68c2fa0
2:73717646 ALMS1 C>G	2	73717646	73717646	C	G	ALMS1	c.8563C>G	NM_015120.4	NP_055935.4:p.(Leu2855Val)	NC_000002.11:g.73717646C>G	VUS	1 lab	f1b6ae022c
10:103531232 FGF8 C>T	10	103531232	103531232	C	T	FGF8	c.432G>A	NM_033163.3	NP_149353.1:p.(Lys144=)	NC_000010.10:g.103531232C>T	(Likely) benign	1 lab	f1b6cc9802
3:123376230 MYLK C>T	3	123376230	123376230	C	T	MYLK	c.4031G>A	NM_053025.3	NP_444253.3:p.(Arg1344Gln)	NC_000003.11:g.123376230C>T	VUS	1 lab	f1b762ab76
12:26383963 SSPN G>A	12	26383963	26383963	G	A	SSPN	c.686G>A	NM_005086.4	NP_005077.2:p.(Arg229Lys)	NC_000012.11:g.26383963G>A	(Likely) benign	1 lab	f1b7a70707
17:15930699 TTC19 C>T	17	15930699	15930699	C	T	TTC19	c.685C>T	NM_001271420.1	NP_001258349.1:p.(Gln229Ter)	NC_000017.10:g.15930699C>T	(Likely) pathogenic	1 lab	f1b7e0bb38
17:79972949 ASPSCR1 A>T	17	79972949	79972949	A	T	ASPSCR1	c.1354-2A>T	NM_001251888.1	NP_001238817.1:p.?	NC_000017.10:g.79972949A>T	VUS	1 lab	f1b83b9b6d
10:123244914 FGFR2 G>A	10	123244914	123244914	G	A	FGFR2	c.2190C>T	NM_000141.4	NP_000132.3:p.(Asn730=)	NC_000010.10:g.123244914G>A	(Likely) benign	1 lab	f1b8c07a09
10:100195161 HPS1 C>T	10	100195161	100195161	C	T	HPS1	c.266G>A	NM_001322477.1	NP_001309406.1:p.(Cys89Tyr)	NC_000010.10:g.100195161C>T	(Likely) benign	1 lab	f1bb15733c
1:5993313 NPHP4 T>C	1	5993313	5993313	T	C	NPHP4	c.1196A>G	NM_015102.4	NP_055917.1:p.(Glu399Gly)	NC_000001.10:g.5993313T>C	VUS	1 lab	f1bcc64fab
12:9021147 A2ML1 G>A	12	9021147	9021147	G	A	A2ML1	c.4076G>A	NM_144670.5	NP_653271.2:p.(Arg1359His)	NC_000012.11:g.9021147G>A	(Likely) benign	1 lab	f1bd95f6ae
2:73835636 MISSING A>G	2	73835636	73835636	A	G	MISSING				NC_000002.11:g.73835636A>G	VUS	1 lab	2d08e05f62
3:121489394 IQCB1 C>T	3	121489394	121489394	C	T	IQCB1	c.1595G>A	NM_001023570.3	NP_001018864.2:p.(Gly532Glu)	NC_000003.11:g.121489394C>T	(Likely) benign	1 lab	f1be0bc266
6:167711505 UNC93A G>A	6	167711505	167711505	G	A	UNC93A	c.572G>A	NM_018974.4	NP_061847.2:p.(Ser191Asn)	NC_000006.11:g.167711505G>A	(Likely) benign	1 lab	f1be1e98a6
7:103243886 RELN C>T	7	103243886	103243886	C	T	RELN	c.3198G>A	NM_173054.2	NP_774959.1:p.(Pro1066=)	NC_000007.13:g.103243886C>T	(Likely) benign	1 lab	f1bf8a3529
18:19065722 GREB1L G>A	18	19065722	19065722	G	A	GREB1L	c.2690+8G>A	NM_001142966.2	NP_001136438.1:p.?	NC_000018.9:g.19065722G>A	(Likely) benign	1 lab	f1c126a6ad
10:88477636 LDB3 AG>A	10	88477636	88477637	AG	A	LDB3	c.1677-84del	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88477637del	(Likely) benign	1 lab	f1c13ed0fe
17:29592256 NF1 AC>A	17	29592256	29592257	AC	A	NF1	c.4735del	NM_001042492.3	NP_001035957.1:p.(His1579MetfsTer9)	NC_000017.10:g.29592257del	(Likely) pathogenic	1 lab	f1c195d3d3
7:44736627 OGDH G>A	7	44736627	44736627	G	A	OGDH	c.2015G>A	NM_002541.3	NP_002532.2:p.(Arg672Gln)	NC_000007.13:g.44736627G>A	VUS	1 lab	f1c25a9b02
14:102493586 DYNC1H1 C>T	14	102493586	102493586	C	T	DYNC1H1	c.8847C>T	NM_001376.4	NP_001367.2:p.(Phe2949=)	NC_000014.8:g.102493586C>T	(Likely) benign	1 lab	f1c52ab84d
9:37512649 FBXO10 C>T	9	37512649	37512649	C	T	FBXO10	c.2766G>A	NM_012166.3	NP_036298.2:p.(Ser922=)	NC_000009.11:g.37512649C>T	(Likely) benign	1 lab	f1c8e5addf
X:46943874 RGN G>T	X	46943874	46943874	G	T	RGN	c.221G>T	NM_152869.4	NP_690608.1:p.(Gly74Val)	NC_000023.10:g.46943874G>T	(Likely) benign	1 lab	f1cbd6fb63
16:2120581 TSC2 T>C	16	2120581	2120581	T	C	TSC2	c.1839+2T>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2120581T>C	(Likely) pathogenic	1 lab	f1cdb540f4
2:216236623 FN1 A>G	2	216236623	216236623	A	G	FN1	c.6714+9T>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216236623A>G	(Likely) benign	1 lab	f1cfbb10db
3:164755719 SI T>C	3	164755719	164755719	T	C	SI	c.2395A>G	NM_001041.3	NP_001032.2:p.(Ile799Val)	NC_000003.11:g.164755719T>C	(Likely) benign	1 lab	f1d0d9d155
1:226252147 H3F3A C>T	1	226252147	226252147	C	T	H3F3A				NC_000001.10:g.226252147C>T	VUS	1 lab	f1d26cf308
18:44184084 LOXHD1 C>T	18	44184084	44184084	C	T	LOXHD1	c.868G>A	NM_144612.6	NP_653213.6:p.(Gly290Arg)	NC_000018.9:g.44184084C>T	VUS	1 lab	f1d2e237e3
16:3900527 CREBBP T>C	16	3900527	3900527	T	C	CREBBP	c.569A>G	NM_004380.2	NP_004371.2:p.(Asn190Ser)	NC_000016.9:g.3900527T>C	VUS	1 lab	f1d2fc07dc
6:100061158 PRDM13 C>CACCA	6	100061158	100061162	C	CACCA	PRDM13	c.648_651dup	NM_021620.3	NP_067633.2:p.(Val218ThrfsTer235)	NC_000006.11:g.100061159_100061162dup	VUS	1 lab	f1d3d2e867
5:90021405 ADGRV1 T>C	5	90021405	90021405	T	C	ADGRV1	c.10093T>C	NM_032119.4	NP_115495.3:p.(Tyr3365His)	NC_000005.9:g.90021405T>C	(Likely) benign	1 lab	f1d4d19b49
X:117162429 KLHL13 T>C	X	117162429	117162429	T	C	KLHL13	c.8A>G	NM_001168302.1	NP_001161774.1:p.(His3Arg)	NC_000023.10:g.117162429T>C	(Likely) benign	1 lab	f1d53cf556
6:91271355 MAP3K7 C>T	6	91271355	91271355	C	T	MAP3K7				NC_000006.11:g.91271355C>T	(Likely) pathogenic	1 lab	2eb6ffa29d
17:32953663 TMEM132E G>A	17	32953663	32953663	G	A	TMEM132E	c.585G>A	NM_001304438.1	NP_001291367.1:p.(Leu195=)	NC_000017.10:g.32953663G>A	(Likely) benign	1 lab	f1d63495b5
X:34961812 FAM47B C>G	X	34961812	34961812	C	G	FAM47B	c.864C>G	NM_152631.2	NP_689844.2:p.(Pro288=)	NC_000023.10:g.34961812C>G	(Likely) benign	1 lab	f1d80db90b
11:6661051 DCHS1 C>A	11	6661051	6661051	C	A	DCHS1				NC_000011.9:g.6661051C>A	(Likely) benign	1 lab	f1d90a56ca
5:82832829 VCAN G>A	5	82832829	82832829	G	A	VCAN	c.4007G>A	NM_004385.4	NP_004376.2:p.(Arg1336Gln)	NC_000005.9:g.82832829G>A	VUS	1 lab	f1d9312a97
2:228141094 COL4A3 C>T	2	228141094	228141094	C	T	COL4A3	c.1928-7C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228141094C>T	(Likely) benign	1 lab	f1d982de6a
13:61083956 TDRD3 G>A	13	61083956	61083956	G	A	TDRD3	c.639G>A	NM_001146071.1	NP_001139543.1:p.(Arg213=)	NC_000013.10:g.61083956G>A	(Likely) benign	1 lab	f1d9eed3e3
X:54275812 WNK3 T>G	X	54275812	54275812	T	G	WNK3	c.2969A>C	NM_020922.4	NP_065973.2:p.(Glu990Ala)	NC_000023.10:g.54275812T>G	(Likely) benign	1 lab	f1db0e5efc
1:39917891 MACF1 G>T	1	39917891	39917891	G	T	MACF1	c.14305G>T	NM_012090.5	NP_036222.3:p.(Glu4769Ter)	NC_000001.10:g.39917891G>T	VUS	1 lab	f1ddab7e68
4:183696258 TENM3 A>G	4	183696258	183696258	A	G	TENM3	c.5256A>G	NM_001080477.3	NP_001073946.1:p.(Arg1752=)	NC_000004.11:g.183696258A>G	(Likely) benign	1 lab	f1de0dff9c
15:73616174 HCN4 G>T	15	73616174	73616174	G	T	HCN4	c.2260C>A	NM_005477.2	NP_005468.1:p.(His754Asn)	NC_000015.9:g.73616174G>T	VUS	1 lab	f1e1ce4620
X:114864207 PLS3 G>C	X	114864207	114864207	G	C	PLS3	c.362G>C	NM_001282337.1	NP_001269266.1:p.(Cys121Ser)	NC_000023.10:g.114864207G>C	VUS	1 lab	f1e2407038
17:43351831 MAP3K14 C>T	17	43351831	43351831	C	T	MAP3K14	c.1420G>A	NM_003954.5	NP_003945.2:p.(Gly474Ser)	NC_000017.10:g.43351831C>T	VUS	1 lab	f1e29d75f3
16:30116264 GDPD3 C>T	16	30116264	30116264	C	T	GDPD3	c.886G>A	NM_024307.3	NP_077283.2:p.(Val296Ile)	NC_000016.9:g.30116264C>T	VUS	1 lab	f1e43f49e6
5:89938843 ADGRV1 G>A	5	89938843	89938843	G	A	ADGRV1	c.2538G>A	NM_032119.4	NP_115495.3:p.(Leu846=)	NC_000005.9:g.89938843G>A	(Likely) benign	1 lab	f1e8c2cec4
X:134493838 ZNF449 A>T	X	134493838	134493838	A	T	ZNF449	c.581A>T	NM_152695.5	NP_689908.3:p.(Asp194Val)	NC_000023.10:g.134493838A>T	VUS	1 lab	f1e9c28e5e
6:132201105 ENPP1 C>T	6	132201105	132201105	C	T	ENPP1	c.2031C>T	NM_006208.3	NP_006199.2:p.(His677=)	NC_000006.11:g.132201105C>T	(Likely) benign	1 lab	f1e9c354a6
19:15276716 NOTCH3 G>T	19	15276716	15276716	G	T	NOTCH3	c.5549C>A	NM_000435.2	NP_000426.2:p.(Ala1850Asp)	NC_000019.9:g.15276716G>T	VUS	1 lab	f1ea900c8f
7:5567513 ACTB G>A	7	5567513	5567513	G	A	ACTB	c.994C>T	NM_001101.3	NP_001092.1:p.(Pro332Ser)	NC_000007.13:g.5567513G>A	VUS	1 lab	f1eb5727d3
2:135893177 RAB3GAP1 G>A	2	135893177	135893177	G	A	RAB3GAP1	c.1598G>A	NM_001172435.1	NP_001165906.1:p.(Gly533Glu)	NC_000002.11:g.135893177G>A	(Likely) benign	1 lab	f1eeaadd55
1:27101294 ARID1A G>A	1	27101294	27101294	G	A	ARID1A	c.4576G>A	NM_006015.4	NP_006006.3:p.(Val1526Met)	NC_000001.10:g.27101294G>A	VUS	1 lab	f1eeb7a6a4
3:186943181 MASP1 G>C	3	186943181	186943181	G	C	MASP1	c.1672C>G	NM_001879.5	NP_001870.3:p.(Leu558Val)	NC_000003.11:g.186943181G>C	VUS	1 lab	f1ef5df34e
6:84368769 SNAP91 T>C	6	84368769	84368769	T	C	SNAP91	c.390A>G	NM_001256717.1	NP_001243646.1:p.(Leu130=)	NC_000006.11:g.84368769T>C	(Likely) benign	1 lab	f1f023c902
17:29546096 NF1 CT>C	17	29546096	29546097	CT	C	NF1	c.1602del	NM_001042492.3	NP_001035957.1:p.(Gln535SerfsTer21)	NC_000017.10:g.29546097del	(Likely) pathogenic	1 lab	f1f3932398
2:71189962 ATP6V1B1 T>C	2	71189962	71189962	T	C	ATP6V1B1	c.841T>C	NM_001692.4	NP_001683.2:p.(Tyr281His)	NC_000002.11:g.71189962T>C	VUS	1 lab	f1f8d470c7
X:63445393 ASB12 G>A	X	63445393	63445393	G	A	ASB12	c.138C>T	NM_130388.3	NP_569059.3:p.(Asn46=)	NC_000023.10:g.63445393G>A	(Likely) benign	1 lab	f1f8ea7947
X:18622224 CDKL5 A>G	X	18622224	18622224	A	G	CDKL5	c.1180A>G	NM_001323289.1	NP_001310218.1:p.(Ser394Gly)	NC_000023.10:g.18622224A>G	(Likely) benign	1 lab	f1f9a1850c
3:195510952 MUC4 G>C	3	195510952	195510952	G	C	MUC4	c.7499C>G	NM_018406.6	NP_060876.5:p.(Thr2500Ser)	NC_000003.11:g.195510952G>C	(Likely) benign	1 lab	f1fa26dcf4
1:186055394 HMCN1 T>C	1	186055394	186055394	T	C	HMCN1	c.8901T>C	NM_031935.2	NP_114141.2:p.(Ile2967=)	NC_000001.10:g.186055394T>C	(Likely) benign	1 lab	f1fb162dd8
9:133570935 EXOSC2 T>C	9	133570935	133570935	T	C	EXOSC2	c.179T>C	NM_014285.7	NP_055100.2:p.(Val60Ala)	NC_000009.11:g.133570935T>C	VUS	1 lab	f1fb550efe
12:52100484 SCN8A T>C	12	52100484	52100484	T	C	SCN8A	c.1620T>C	NM_014191.3	NP_055006.1:p.(Phe540=)	NC_000012.11:g.52100484T>C	(Likely) benign	1 lab	f1fb6076f0
8:68084684 CSPP1 T>C	8	68084684	68084684	T	C	CSPP1	c.1812T>C	NM_001291339.1	NP_001278268.1:p.(Asp604=)	NC_000008.10:g.68084684T>C	(Likely) benign	1 lab	f1fc97d6dc
2:136575048 LCT C>T	2	136575048	136575048	C	T	LCT	c.1570G>A	NM_002299.2	NP_002290.2:p.(Ala524Thr)	NC_000002.11:g.136575048C>T	VUS	1 lab	f1fd5ab385
5:176719150 NSD1 C>T	5	176719150	176719150	C	T	NSD1	c.6454C>T	NM_022455.4	NP_071900.2:p.(Arg2152Ter)	NC_000005.9:g.176719150C>T	(Likely) pathogenic	1 lab	f1fd6d910d
3:121514423 IQCB1 C>T	3	121514423	121514423	C	T	IQCB1	c.877-10G>A	NM_001023570.3	NP_001018864.2:p.?	NC_000003.11:g.121514423C>T	VUS	1 lab	f1fe22cffa
18:67871418 RTTN G>T	18	67871418	67871418	G	T	RTTN	c.301C>A	NM_173630.3	NP_775901.3:p.(Leu101Met)	NC_000018.9:g.67871418G>T	VUS	1 lab	f1fec7a73e
1:152191169 HRNR G>A	1	152191169	152191169	G	A	HRNR	c.2936C>T	NM_001009931.2	NP_001009931.1:p.(Ser979Leu)	NC_000001.10:g.152191169G>A	(Likely) benign	1 lab	f1ffd558d1
14:23886423 MYH7 G>A	14	23886423	23886423	G	A	MYH7	c.4458C>T	NM_000257.2	NP_000248.2:p.(Asn1486=)	NC_000014.8:g.23886423G>A	(Likely) benign	1 lab	f20065ebf5
9:133884676 LAMC3 C>T	9	133884676	133884676	C	T	LAMC3	c.75C>T	NM_006059.3	NP_006050.3:p.(Cys25=)	NC_000009.11:g.133884676C>T	(Likely) benign	1 lab	f2011e3d80
20:21227123 KIZ G>C	20	21227123	21227123	G	C	KIZ	c.1589G>C	NM_001352436.1	NP_001339365.1:p.(Trp530Ser)	NC_000020.10:g.21227123G>C	VUS	1 lab	f2019fd923
1:26487985 FAM110D G>A	1	26487985	26487985	G	A	FAM110D	c.203G>A	NM_024869.3	NP_079145.2:p.(Arg68Lys)	NC_000001.10:g.26487985G>A	(Likely) benign	1 lab	f201dd7630
4:183713842 TENM3 G>A	4	183713842	183713842	G	A	TENM3	c.6017G>A	NM_001080477.3	NP_001073946.1:p.(Arg2006His)	NC_000004.11:g.183713842G>A	VUS	1 lab	f202ddefcc
16:3705491 DNASE1 C>T	16	3705491	3705491	C	T	DNASE1	c.117C>T	NM_005223.3	NP_005214.2:p.(Ser39=)	NC_000016.9:g.3705491C>T	(Likely) benign	1 lab	f2034069d4
1:226127688 LEFTY2 A>G	1	226127688	226127688	A	G	LEFTY2	c.265T>C	NM_003240.4	NP_003231.2:p.(Phe89Leu)	NC_000001.10:g.226127688A>G	(Likely) benign	1 lab	f2044be14b
16:28997734 LAT C>T	16	28997734	28997734	C	T	LAT	c.277C>T	NM_014387.3	NP_055202.1:p.(Arg93Trp)	NC_000016.9:g.28997734C>T	VUS	1 lab	f2049d0c97
16:1636247 IFT140 G>A	16	1636247	1636247	G	A	IFT140	c.1039C>T	NM_014714.3	NP_055529.2:p.(Arg347Ter)	NC_000016.9:g.1636247G>A	(Likely) pathogenic	1 lab	f20504dd22
14:54416989 BMP4 G>T	14	54416989	54416989	G	T	BMP4	c.988C>A	NM_001347916.1	NP_001334845.1:p.(Pro330Thr)	NC_000014.8:g.54416989G>T	VUS	1 lab	f2055c318e
17:29585383 NF1 CAG>C	17	29585383	29585386	CAG	C	NF1	c.4197_4198del	NM_001042492.3	NP_001035957.1:p.(Asn1400GlnfsTer23)	NC_000017.10:g.29585385_29585386del	(Likely) pathogenic	1 lab	f20570450d
10:23482814 PTF1A A>AC	10	23482814	23482816	A	AC	PTF1A	c.968dup	NM_178161.2	NP_835455.1:p.(Phe324IlefsTer2)	NC_000010.10:g.23482816dup	VUS	1 lab	f205a04189
1:216166402 USH2A G>A	1	216166402	216166402	G	A	USH2A	c.6765C>T	NM_206933.2	NP_996816.2:p.(Asp2255=)	NC_000001.10:g.216166402G>A	(Likely) benign	1 lab	f207345caf
8:94777801 TMEM67 CA>C	8	94777801	94777802	CA	C	TMEM67	c.579del	NM_153704.6	NP_714915.3:p.(Gly195AspfsTer27)	NC_000008.10:g.94777802del	(Likely) pathogenic	1 lab	f2078b77a2
5:150431727 TNIP1 G>A	5	150431727	150431727	G	A	TNIP1	c.721C>T	NM_001252385.1	NP_001239314.1:p.(Arg241Trp)	NC_000005.9:g.150431727G>A	VUS	1 lab	f207bf0669
2:132236886 TUBA3D G>A	2	132236886	132236886	G	A	TUBA3D	c.232G>A	NM_080386.3	NP_525125.2:p.(Val78Met)	NC_000002.11:g.132236886G>A	VUS	1 lab	f2097fd336
10:105236270 CALHM3 G>A	10	105236270	105236270	G	A	CALHM3	c.324C>T	NM_001129742.1	NP_001123214.1:p.(Ala108=)	NC_000010.10:g.105236270G>A	(Likely) benign	1 lab	f209829b29
2:237276843 DRC11 G>T	2	237276843	237276843	G	T	DRC11	c.1663C>A	NM_024726.5	NP_079002.3:p.(Pro555Thr)	NC_000002.11:g.237276843G>T	VUS	1 lab	f20d33c7bd
16:17232384 XYLT1 A>G	16	17232384	17232384	A	G	XYLT1	c.1592T>C	NM_022166.3	NP_071449.1:p.(Phe531Ser)	NC_000016.9:g.17232384A>G	VUS	1 lab	f20d5320e9
X:53350081 IQSEC2 C>T	X	53350081	53350081	C	T	IQSEC2	c.241G>A	NM_001111125.2	NP_001104595.1:p.(Asp81Asn)	NC_000023.10:g.53350081C>T	(Likely) benign	1 lab	f20ddd4180
X:99662505 PCDH19 G>A	X	99662505	99662505	G	A	PCDH19	c.1091C>T	NM_001184880.1	NP_001171809.1:p.(Pro364Leu)	NC_000023.10:g.99662505G>A	VUS	1 lab	f20e4c717c
15:44925771 SPG11 A>G	15	44925771	44925771	A	G	SPG11	c.1667T>C	NM_025137.3	NP_079413.3:p.(Phe556Ser)	NC_000015.9:g.44925771A>G	VUS	1 lab	f2116ebc18
21:37602931 DOP1B T>C	21	37602931	37602931	T	C	DOP1B	c.1849T>C	NM_001320714.1	NP_001307643.1:p.(Trp617Arg)	NC_000021.8:g.37602931T>C	VUS	1 lab	f213b9c79b
9:139407859 NOTCH1 G>A	9	139407859	139407859	G	A	NOTCH1	c.2338C>T	NM_017617.5	NP_060087.3:p.(Arg780Trp)	NC_000009.11:g.139407859G>A	VUS	1 lab	f2161d8ed8
1:877556 SAMD11 G>A	1	877556	877556	G	A	SAMD11	c.910G>A	NM_152486.3	NP_689699.2:p.(Ala304Thr)	NC_000001.10:g.877556G>A	VUS	1 lab	f21630d23f
X:19482517 MAP3K15 C>G	X	19482517	19482517	C	G	MAP3K15	c.533G>C	NM_001001671.3	NP_001001671.3:p.(Ser178Thr)	NC_000023.10:g.19482517C>G	VUS	1 lab	f2193f5f6e
9:109689700 ZNF462 A>C	9	109689700	109689700	A	C	ZNF462	c.3507A>C	NM_021224.5	NP_067047.4:p.(Pro1169=)	NC_000009.11:g.109689700A>C	(Likely) benign	1 lab	f219bd10b6
1:196973863 CFHR5 A>G	1	196973863	196973863	A	G	CFHR5	c.1403A>G	NM_030787.3	NP_110414.1:p.(Tyr468Cys)	NC_000001.10:g.196973863A>G	VUS	1 lab	f21b398698
8:38003562 STAR G>A	8	38003562	38003562	G	A	STAR	c.569C>T	NM_000349.2	NP_000340.2:p.(Ala190Val)	NC_000008.10:g.38003562G>A	(Likely) benign	1 lab	f21c30fe08
13:86368890 SLITRK6 G>A	13	86368890	86368890	G	A	SLITRK6	c.1754C>T	NM_032229.3	NP_115605.2:p.(Thr585Ile)	NC_000013.10:g.86368890G>A	(Likely) benign	1 lab	f21ced744a
1:197071009 ASPM T>C	1	197071009	197071009	T	C	ASPM	c.7372A>G	NM_018136.4	NP_060606.3:p.(Arg2458Gly)	NC_000001.10:g.197071009T>C	VUS	1 lab	f21de11453
2:62054256 FAM161A G>A	2	62054256	62054256	G	A	FAM161A	c.1989C>T	NM_001201543.1	NP_001188472.1:p.(Val663=)	NC_000002.11:g.62054256G>A	(Likely) benign	1 lab	f21ed4230f
1:210334143 SYT14 G>A	1	210334143	210334143	G	A	SYT14	c.1310G>A	NM_001256006.1	NP_001242935.1:p.(Arg437His)	NC_000001.10:g.210334143G>A	VUS	1 lab	f22003002c
16:89986617 MC1R G>T	16	89986617	89986617	G	T	MC1R	c.951G>T	NM_002386.3	NP_002377.4:p.(Trp317Cys)	NC_000016.9:g.89986617G>T	VUS	1 lab	f220eb0deb
11:17665020 OTOG G>A	11	17665020	17665020	G	A	OTOG	c.8464G>A	NM_001277269.1	NP_001264198.1:p.(Val2822Met)	NC_000011.9:g.17665020G>A	VUS	1 lab	f2215ffb41
8:10468802 RP1L1 C>A	8	10468802	10468802	C	A	RP1L1	c.2806G>T	NM_178857.5	NP_849188.4:p.(Gly936Trp)	NC_000008.10:g.10468802C>A	(Likely) benign	1 lab	f221dba4f6
6:56418416 DST G>A	6	56418416	56418416	G	A	DST	c.8817C>T	NM_001144769.2	NP_001138241.1:p.(Ser2939=)	NC_000006.11:g.56418416G>A	(Likely) benign	1 lab	f2243c814e
2:62067441 FAM161A A>G	2	62067441	62067441	A	G	FAM161A	c.698T>C	NM_001201543.1	NP_001188472.1:p.(Val233Ala)	NC_000002.11:g.62067441A>G	(Likely) benign	1 lab	f225d7370f
X:2861179 ARSL C>T	X	2861179	2861179	C	T	ARSL	c.1128G>A	NM_001282628.1	NP_001269557.1:p.(Thr376=)	NC_000023.10:g.2861179C>T	(Likely) benign	1 lab	f2264cae69
3:49169781 LAMB2 G>T	3	49169781	49169781	G	T	LAMB2	c.307C>A	NM_002292.3	NP_002283.3:p.(Pro103Thr)	NC_000003.11:g.49169781G>T	(Likely) benign	1 lab	f228536ec4
17:29653051 NF1 C>G	17	29653051	29653051	C	G	NF1	c.4986C>G	NM_000267.3	NP_000258.1:p.(Asn1662Lys)	NC_000017.10:g.29653051C>G	VUS	1 lab	f22c01be17
7:92120681 PEX1 C>T	7	92120681	92120681	C	T	PEX1	c.2719G>A	NM_001282678.1	NP_001269607.1:p.(Glu907Lys)	NC_000007.13:g.92120681C>T	(Likely) benign	1 lab	f22d8a562f
17:5462180 NLRP1 C>T	17	5462180	5462180	C	T	NLRP1	c.1836G>A	NM_033004.4	NP_127497.1:p.(Glu612=)	NC_000017.10:g.5462180C>T	(Likely) benign	1 lab	f22f696d08
1:205688792 NUCKS1 C>T	1	205688792	205688792	C	T	NUCKS1	c.395G>A	NM_022731.4	NP_073568.2:p.(Ser132Asn)	NC_000001.10:g.205688792C>T	VUS	1 lab	f2303166f0
21:34922194 SON A>G	21	34922194	34922194	A	G	SON	c.657A>G	NM_138927.2	NP_620305.2:p.(Thr219=)	NC_000021.8:g.34922194A>G	(Likely) benign	1 lab	f2303a91c0
2:174228604 CDCA7 C>A	2	174228604	174228604	C	A	CDCA7	c.680C>A	NM_031942.4	NP_114148.3:p.(Pro227His)	NC_000002.11:g.174228604C>A	VUS	1 lab	f231357e00
5:149283238 PDE6A C>T	5	149283238	149283238	C	T	PDE6A	c.1086G>A	NM_000440.2	NP_000431.2:p.(Ala362=)	NC_000005.9:g.149283238C>T	(Likely) benign	1 lab	f232d95550
9:118916832 PAPPA G>A	9	118916832	118916832	G	A	PAPPA	c.381G>A	NM_002581.5	NP_002572.2:p.(Ala127=)	NC_000009.11:g.118916832G>A	(Likely) benign	1 lab	f232e344aa
4:126238397 FAT4 G>A	4	126238397	126238397	G	A	FAT4	c.831G>A	NM_024582.4	NP_078858.4:p.(Ala277=)	NC_000004.11:g.126238397G>A	(Likely) benign	1 lab	f233ab6418
19:53994826 ZNF813 C>T	19	53994826	53994826	C	T	ZNF813	c.1340C>T	NM_001004301.3	NP_001004301.2:p.(Thr447Met)	NC_000019.9:g.53994826C>T	(Likely) benign	1 lab	f237ff2f47
11:67815423 TCIRG1 C>T	11	67815423	67815423	C	T	TCIRG1	c.644C>T	NM_001351059.1	NP_001337988.1:p.(Pro215Leu)	NC_000011.9:g.67815423C>T	VUS	1 lab	f23850a514
14:53529903 DDHD1 T>C	14	53529903	53529903	T	C	DDHD1	c.1524A>G	NM_001160148.1	NP_001153620.1:p.(Gln508=)	NC_000014.8:g.53529903T>C	(Likely) benign	1 lab	f23d2c517b
8:90993639 NBN T>C	8	90993639	90993639	T	C	NBN	c.284A>G	NM_002485.4	NP_002476.2:p.(Asp95Gly)	NC_000008.10:g.90993639T>C	VUS	1 lab	f23e815c15
11:1016854 MUC6 G>A	11	1016854	1016854	G	A	MUC6	c.5947C>T	NM_005961.2	NP_005952.2:p.(Pro1983Ser)	NC_000011.9:g.1016854G>A	(Likely) benign	1 lab	f24167b5e2
13:25077812 PARP4 C>T	13	25077812	25077812	C	T	PARP4	c.103G>A	NM_006437.4	NP_006428.2:p.(Gly35Arg)	NC_000013.10:g.25077812C>T	VUS	1 lab	f2421d4f1f
15:23891407 MAGEL2 G>C	15	23891407	23891407	G	C	MAGEL2	c.1483C>G	NM_019066.4	NP_061939.3:p.(Gln495Glu)	NC_000015.9:g.23891407G>C	VUS	1 lab	f2424806fc
20:10639200 JAG1 C>G	20	10639200	10639200	C	G	JAG1	c.610G>C	NM_000214.3	NP_000205.1:p.(Asp204His)	NC_000020.10:g.10639200C>G	VUS	1 lab	f2426fe4b5
X:140995137 MAGEC1 G>C	X	140995137	140995137	G	C	MAGEC1	c.1947G>C	NM_005462.4	NP_005453.2:p.(Gln649His)	NC_000023.10:g.140995137G>C	VUS	1 lab	f24277e19b
6:66063433 EYS GC>G	6	66063433	66063434	GC	G	EYS	c.1376del	NM_001142800.2	NP_001136272.1:p.(Cys459SerfsTer56)	NC_000006.11:g.66063434del	(Likely) pathogenic	1 lab	f243e13357
X:51075901 NUDT10 G>C	X	51075901	51075901	G	C	NUDT10	c.84G>C	NM_153183.3	NP_694853.1:p.(Glu28Asp)	NC_000023.10:g.51075901G>C	(Likely) benign	1 lab	f244781877
12:15784544 EPS8 G>T	12	15784544	15784544	G	T	EPS8	c.1876C>A	NM_004447.5	NP_004438.3:p.(Pro626Thr)	NC_000012.11:g.15784544G>T	VUS	1 lab	f24712bb92
1:27094351 ARID1A G>A	1	27094351	27094351	G	A	ARID1A	c.3059G>A	NM_006015.4	NP_006006.3:p.(Arg1020Lys)	NC_000001.10:g.27094351G>A	(Likely) pathogenic	1 lab	f2499f158a
X:118223256 KIAA1210 A>G	X	118223256	118223256	A	G	KIAA1210	c.1937T>C	NM_020721.1	NP_065772.1:p.(Val646Ala)	NC_000023.10:g.118223256A>G	(Likely) benign	1 lab	f24b8042f8
17:34894082 PIGW G>C	17	34894082	34894082	G	C	PIGW	c.1132G>C	NM_178517.4	NP_848612.2:p.(Val378Leu)	NC_000017.10:g.34894082G>C	(Likely) benign	1 lab	f24c1f6f52
17:1579222 PRPF8 C>T	17	1579222	1579222	C	T	PRPF8	c.2679G>A	NM_006445.3	NP_006436.3:p.(Glu893=)	NC_000017.10:g.1579222C>T	(Likely) benign	1 lab	f24ca4a544
18:67816209 RTTN T>G	18	67816209	67816209	T	G	RTTN	c.2237A>C	NM_173630.3	NP_775901.3:p.(Asp746Ala)	NC_000018.9:g.67816209T>G	(Likely) benign	1 lab	f24f6b8677
2:198570735 MARS2 A>G	2	198570735	198570735	A	G	MARS2	c.606A>G	NM_138395.3	NP_612404.1:p.(Pro202=)	NC_000002.11:g.198570735A>G	(Likely) benign	1 lab	f24f78a8b2
22:34022329 LARGE1 G>A	22	34022329	34022329	G	A	LARGE1	c.409-19C>T	NM_004737.5	NP_004728.1:p.?	NC_000022.10:g.34022329G>A	(Likely) benign	1 lab	f24ff75d3f
7:4824639 AP5Z1 C>T	7	4824639	4824639	C	T	AP5Z1	c.891C>T	NM_014855.3	NP_055670.1:p.(Ala297=)	NC_000007.13:g.4824639C>T	(Likely) benign	1 lab	f25020779d
19:50104829 PRR12 C>T	19	50104829	50104829	C	T	PRR12	c.4427C>T	NM_020719.2	NP_065770.1:p.(Pro1476Leu)	NC_000019.9:g.50104829C>T	VUS	1 lab	f2514a171a
11:16838690 PLEKHA7 G>A	11	16838690	16838690	G	A	PLEKHA7	c.1523C>T	NM_001329630.2	NP_001316559.1:p.(Ser508Leu)	NC_000011.9:g.16838690G>A	VUS	1 lab	f251c20052
X:119005366 RNF113A G>A	X	119005366	119005366	G	A	RNF113A	c.211C>T	NM_006978.2	NP_008909.1:p.(Arg71Cys)	NC_000023.10:g.119005366G>A	VUS	1 lab	f255383c09
4:36292009 DTHD1 T>A	4	36292009	36292009	T	A	DTHD1	c.527T>A	NM_001170700.2	NP_001164171.1:p.(Leu176Gln)	NC_000004.11:g.36292009T>A	(Likely) benign	1 lab	f2566210ef
X:47088134 CDK16 G>A	X	47088134	47088134	G	A	CDK16	c.1476G>A	NM_033018.3	NP_148978.2:p.(Arg492=)	NC_000023.10:g.47088134G>A	(Likely) benign	1 lab	f264aee129
8:48739315 PRKDC C>T	8	48739315	48739315	C	T	PRKDC	c.8685G>A	NM_006904.6	NP_008835.5:p.(Glu2895=)	NC_000008.10:g.48739315C>T	(Likely) benign	1 lab	f258cb9a6c
5:70855862 BDP1 A>G	5	70855862	70855862	A	G	BDP1	c.7294A>G	NM_018429.2	NP_060899.2:p.(Thr2432Ala)	NC_000005.9:g.70855862A>G	(Likely) benign	1 lab	f25940dfca
11:67433013 ALDH3B2 C>T	11	67433013	67433013	C	T	ALDH3B2	c.449G>A	NM_001354345.1	NP_001341274.1:p.(Arg150His)	NC_000011.9:g.67433013C>T	VUS	1 lab	f25a3494a1
3:132405143 NPHP3 T>C	3	132405143	132405143	T	C	NPHP3	c.3290A>G	NM_153240.4	NP_694972.3:p.(Asn1097Ser)	NC_000003.11:g.132405143T>C	VUS	1 lab	f25ba2b414
1:228547455 OBSCN C>T	1	228547455	228547455	C	T	OBSCN	c.18862C>T	NM_052843.3	NP_443075.3:p.(Arg6288Cys)	NC_000001.10:g.228547455C>T	(Likely) benign	1 lab	f25c015354
19:49468837 FTL C>T	19	49468837	49468837	C	T	FTL	c.73C>T	NM_000146.3	NP_000137.2:p.(Leu25=)	NC_000019.9:g.49468837C>T	(Likely) benign	1 lab	f25d69db3d
17:17697234 RAI1 G>A	17	17697234	17697234	G	A	RAI1	c.972G>A	NM_030665.3	NP_109590.3:p.(Pro324=)	NC_000017.10:g.17697234G>A	(Likely) benign	1 lab	f25fdac06b
10:101716076 DNMBP C>T	10	101716076	101716076	C	T	DNMBP	c.1155G>A	NM_015221.4	NP_056036.1:p.(Pro385=)	NC_000010.10:g.101716076C>T	(Likely) benign	1 lab	f262a0b902
20:57766937 ZNF831 C>T	20	57766937	57766937	C	T	ZNF831	c.863C>T	NM_178457.2	NP_848552.1:p.(Pro288Leu)	NC_000020.10:g.57766937C>T	(Likely) benign	1 lab	f2631002e0
10:43608316 RET TCTC>T	10	43608316	43608320	TCTC	T	RET	c.1666_1668del	NM_020975.6	NP_066124.1:p.(Ser556del)	NC_000010.10:g.43608318_43608320del	VUS	1 lab	f26354fca4
12:58131119 AGAP2 G>A	12	58131119	58131119	G	A	AGAP2	c.911C>T	NM_001122772.2	NP_001116244.1:p.(Ala304Val)	NC_000012.11:g.58131119G>A	(Likely) benign	1 lab	f263b769a1
12:56630788 SLC39A5 C>T	12	56630788	56630788	C	T	SLC39A5	c.1281C>T	NM_173596.2	NP_775867.2:p.(His427=)	NC_000012.11:g.56630788C>T	(Likely) benign	1 lab	f265cfcac6
17:78085869 GAA A>G	17	78085869	78085869	A	G	GAA	c.1724A>G	NM_000152.3	NP_000143.2:p.(Tyr575Cys)	NC_000017.10:g.78085869A>G	(Likely) pathogenic	1 lab	f26602f2d7
9:139982561 MAN1B1 T>G	9	139982561	139982561	T	G	MAN1B1	c.254T>G	NM_016219.4	NP_057303.2:p.(Met85Arg)	NC_000009.11:g.139982561T>G	(Likely) benign	1 lab	f2660bad63
7:48316076 ABCA13 C>A	7	48316076	48316076	C	A	ABCA13	c.6813C>A	NM_152701.4	NP_689914.3:p.(Phe2271Leu)	NC_000007.13:g.48316076C>A	(Likely) benign	1 lab	f268eb1aae
3:142840058 CHST2 G>C	3	142840058	142840058	G	C	CHST2	c.400G>C	NM_004267.4	NP_004258.2:p.(Gly134Arg)	NC_000003.11:g.142840058G>C	(Likely) benign	1 lab	f26acf0a2f
X:120008796 CT47B1 TTCCTCTGTGGCCTCCTCTGTGAGCTTC>T	X	120008796	120008830	TTCCTCTGTGGCCTCCTCTGTGAGCTTC	T	CT47B1	c.702_728del	NM_001145718.3	NP_001139190.1:p.(Lys235_Glu243del)	NC_000023.10:g.120008804_120008830del	(Likely) benign	1 lab	f26b20fa54
16:16251651 ABCC6 G>A	16	16251651	16251651	G	A	ABCC6	c.3751C>T	NM_001171.5	NP_001162.4:p.(Pro1251Ser)	NC_000016.9:g.16251651G>A	(Likely) benign	1 lab	f26b744063
13:23911681 SACS T>A	13	23911681	23911681	T	A	SACS	c.6334A>T	NM_014363.5	NP_055178.3:p.(Arg2112Ter)	NC_000013.10:g.23911681T>A	(Likely) pathogenic	1 lab	f26bc8c6c3
16:87795633 KLHDC4 G>A	16	87795633	87795633	G	A	KLHDC4	c.113C>T	NM_017566.4	NP_060036.2:p.(Ala38Val)	NC_000016.9:g.87795633G>A	VUS	1 lab	f270251ac5
2:99162523 INPP4A C>T	2	99162523	99162523	C	T	INPP4A	c.1041C>T	NM_001134224.1	NP_001127696.1:p.(Asp347=)	NC_000002.11:g.99162523C>T	(Likely) benign	1 lab	f270ed5cea
3:129302988 PLXND1 T>A	3	129302988	129302988	T	A	PLXND1	c.2118A>T	NM_015103.2	NP_055918.2:p.(Ala706=)	NC_000003.11:g.129302988T>A	(Likely) benign	1 lab	f27215426a
19:15273248 NOTCH3 A>C	19	15273248	15273248	A	C	NOTCH3	c.5913+28T>G	NM_000435.2	NP_000426.2:p.?	NC_000019.9:g.15273248A>C	(Likely) benign	1 lab	f2753c1fc6
12:122825613 CLIP1 A>G	12	122825613	122825613	A	G	CLIP1	c.2138T>C	NM_001247997.1	NP_001234926.1:p.(Ile713Thr)	NC_000012.11:g.122825613A>G	VUS	1 lab	f27797d8f8
10:55591145 PCDH15 A>T	10	55591145	55591145	A	T	PCDH15	c.4132T>A	NM_001354429.1	NP_001341358.1:p.(Leu1378Met)	NC_000010.10:g.55591145A>T	VUS	1 lab	f27adbe313
13:35747598 NBEA T>A	13	35747598	35747598	T	A	NBEA	c.4424-3T>A	NM_015678.4	NP_056493.3:p.?	NC_000013.10:g.35747598T>A	VUS	1 lab	f27b5d23ca
11:35016544 PDHX G>A	11	35016544	35016544	G	A	PDHX	c.1331G>A	NM_003477.2	NP_003468.2:p.(Arg444Lys)	NC_000011.9:g.35016544G>A	(Likely) benign	1 lab	f27dbd7c4d
1:161561005 FCGR2C T>C	1	161561005	161561005	T	C	FCGR2C				NC_000001.10:g.161561005T>C	VUS	1 lab	f27e92a6fc
14:29237826 FOXG1 C>T	14	29237826	29237826	C	T	FOXG1	c.1341C>T	NM_005249.4	NP_005240.3:p.(Ala447=)	NC_000014.8:g.29237826C>T	(Likely) benign	1 lab	f27f41ad98
18:67755229 RTTN C>T	18	67755229	67755229	C	T	RTTN	c.4298G>A	NM_173630.3	NP_775901.3:p.(Arg1433Gln)	NC_000018.9:g.67755229C>T	VUS	1 lab	f280404209
4:71509432 ENAM G>A	4	71509432	71509432	G	A	ENAM	c.2289G>A	NM_031889.3	NP_114095.2:p.(Arg763=)	NC_000004.11:g.71509432G>A	(Likely) benign	1 lab	f2819c657c
9:79931169 VPS13A A>C	9	79931169	79931169	A	C	VPS13A	c.4710A>C	NM_033305.2	NP_150648.2:p.(Thr1570=)	NC_000009.11:g.79931169A>C	(Likely) benign	1 lab	f283efca9d
8:68031002 CSPP1 A>C	8	68031002	68031002	A	C	CSPP1	c.746A>C	NM_001291339.1	NP_001278268.1:p.(Gln249Pro)	NC_000008.10:g.68031002A>C	VUS	1 lab	f28492b290
X:25031084 ARX A>G	X	25031084	25031084	A	G	ARX	c.1028T>C	NM_139058.2	NP_620689.1:p.(Leu343Pro)	NC_000023.10:g.25031084A>G	(Likely) pathogenic	1 lab	f284bab4c1
9:124081116 GSN C>T	9	124081116	124081116	C	T	GSN	c.1149C>T	NM_001353053.1	NP_001339982.1:p.(Ala383=)	NC_000009.11:g.124081116C>T	(Likely) benign	1 lab	f284e8fd0a
15:83328379 AP3B2 A>ACAGT	15	83328379	83328386	A	ACAGT	AP3B2	c.3235_3238dup	NM_001278512.1	NP_001265441.1:p.(Val1080AspfsTer62)	NC_000015.9:g.83328383_83328386dup	(Likely) pathogenic	1 lab	f285c25b48
21:43808641 TMPRSS3 C>T	21	43808641	43808641	C	T	TMPRSS3	c.323-6G>A	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43808641C>T	(Likely) pathogenic	1 lab	f285f7b0c5
8:22265818 SLC39A14 T>C	8	22265818	22265818	T	C	SLC39A14	c.271-5T>C	NM_001135153.2	NP_001128625.1:p.?	NC_000008.10:g.22265818T>C	(Likely) benign	1 lab	f287b1bb9f
1:109440258 GPSM2 G>A	1	109440258	109440258	G	A	GPSM2	c.414+9G>A	NM_013296.5	NP_037428.3:p.?	NC_000001.10:g.109440258G>A	(Likely) benign	1 lab	f2897b2a4f
9:139393453 NOTCH1 G>A	9	139393453	139393453	G	A	NOTCH1	c.6083-5C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139393453G>A	(Likely) benign	1 lab	f28adcaa4e
6:10529617 GCNT2 C>T	6	10529617	10529617	C	T	GCNT2	c.473C>T	NM_145649.4	NP_663624.1:p.(Ser158Leu)	NC_000006.11:g.10529617C>T	(Likely) benign	1 lab	f28d0d826f
14:105417009 AHNAK2 C>G	14	105417009	105417009	C	G	AHNAK2	c.4779G>C	NM_138420.3	NP_612429.2:p.(Gly1593=)	NC_000014.8:g.105417009C>G	(Likely) benign	1 lab	f28d2d0e7e
8:10467564 RP1L1 T>C	8	10467564	10467564	T	C	RP1L1	c.4044A>G	NM_178857.5	NP_849188.4:p.(Gly1348=)	NC_000008.10:g.10467564T>C	(Likely) benign	1 lab	f28da34853
1:216348663 USH2A T>A	1	216348663	216348663	T	A	USH2A	c.4558A>T	NM_206933.2	NP_996816.2:p.(Ile1520Phe)	NC_000001.10:g.216348663T>A	VUS	1 lab	f28ed16ebd
X:32456380 DMD C>T	X	32456380	32456380	C	T	DMD	c.3680G>A	NM_004010.3	NP_004001.1:p.(Arg1227His)	NC_000023.10:g.32456380C>T	(Likely) benign	1 lab	f29041bea8
3:38591946 SCN5A A>G	3	38591946	38591946	A	G	SCN5A	c.5917T>C	NM_001099404.1	NP_001092874.1:p.(Phe1973Leu)	NC_000003.11:g.38591946A>G	(Likely) benign	1 lab	f290f7f540
2:179650871 TTN G>T	2	179650871	179650871	G	T	TTN	c.2077-3C>A	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179650871G>T	VUS	1 lab	f2947cae06
9:135777995 TSC1 T>TA	9	135777995	135777997	T	TA	TSC1	c.2387dup	NM_000368.4	NP_000359.1:p.(Leu796PhefsTer30)	NC_000009.11:g.135777997dup	(Likely) pathogenic	1 lab	f294fa2eb4
15:28510840 HERC2 G>A	15	28510840	28510840	G	A	HERC2	c.1794C>T	NM_004667.5	NP_004658.3:p.(Ala598=)	NC_000015.9:g.28510840G>A	(Likely) benign	1 lab	f295425975
20:271225 C20orf96 T>TTTA	20	271225	271226	T	TTTA	C20orf96	c.17+2_17+3insTAA	NM_080571.1	NP_542138.1:p.?	NC_000020.10:g.271225_271226insTTA	(Likely) benign	1 lab	f29780b855
9:119461275 TRIM32 G>A	9	119461275	119461275	G	A	TRIM32	c.1254G>A	NM_001099679.1	NP_001093149.1:p.(Val418=)	NC_000009.11:g.119461275G>A	(Likely) benign	1 lab	f299192618
7:6836241 RSPH10B2 A>ATT	7	6836241	6836242	A	ATT	RSPH10B2	c.2276_2277insTT	NM_001099697.1	NP_001093167.1:p.(Thr760SerfsTer12)	NC_000007.13:g.6836241_6836242insTT	VUS	1 lab	f29bc3e91f
19:861944 CFD G>A	19	861944	861944	G	A	CFD	c.603G>A	NM_001928.2	NP_001919.2:p.(Arg201=)	NC_000019.9:g.861944G>A	(Likely) benign	1 lab	f29c72d09e
1:243542168 SDCCAG8 A>T	1	243542168	243542168	A	T	SDCCAG8	c.1616+3A>T	NM_006642.4	NP_006633.1:p.?	NC_000001.10:g.243542168A>T	VUS	1 lab	f29cc67759
12:21624546 RECQL C>G	12	21624546	21624546	C	G	RECQL	c.1483G>C	NM_002907.4	NP_002898.2:p.(Asp495His)	NC_000012.11:g.21624546C>G	(Likely) benign	1 lab	f29d571e39
7:151947959 KMT2C T>C	7	151947959	151947959	T	C	KMT2C	c.1714A>G	NM_170606.2	NP_733751.2:p.(Thr572Ala)	NC_000007.13:g.151947959T>C	(Likely) benign	1 lab	f29dc5e8a5
6:35425720 FANCE C>G	6	35425720	35425720	C	G	FANCE	c.928C>G	NM_021922.2	NP_068741.1:p.(Pro310Ala)	NC_000006.11:g.35425720C>G	(Likely) benign	1 lab	f2a0100f49
15:62202454 VPS13C C>G	15	62202454	62202454	C	G	VPS13C	c.8766G>C	NM_001018088.2	NP_001018098.1:p.(Val2922=)	NC_000015.9:g.62202454C>G	(Likely) benign	1 lab	f2a1dbbe0c
18:21456327 LAMA3 A>G	18	21456327	21456327	A	G	LAMA3	c.5068A>G	NM_198129.2	NP_937762.2:p.(Asn1690Asp)	NC_000018.9:g.21456327A>G	VUS	1 lab	f2a2551a47
X:1424542 CSF2RA C>T	X	1424542	1424542	C	T	CSF2RA	c.1147C>T	NM_001161531.1	NP_001155003.1:p.(Arg383Trp)	NC_000023.10:g.1424542C>T	(Likely) benign	1 lab	f2a321985f
17:8132756 CTC1 AG>A	17	8132756	8132760	AG	A	CTC1	c.3019del	NM_025099.6	NP_079375.3:p.(Leu1007CysfsTer62)	NC_000017.10:g.8132760del	(Likely) pathogenic	1 lab	f2a3510f71
2:86693974 KDM3A G>A	2	86693974	86693974	G	A	KDM3A	c.1487G>A	NM_018433.5	NP_060903.2:p.(Cys496Tyr)	NC_000002.11:g.86693974G>A	(Likely) benign	1 lab	f2a780f9b4
3:100645137 ABI3BP A>G	3	100645137	100645137	A	G	ABI3BP	c.280+9T>C	NM_015429.3	NP_056244.2:p.?	NC_000003.11:g.100645137A>G	(Likely) benign	1 lab	f2a84c50e1
18:44140377 LOXHD1 C>T	18	44140377	44140377	C	T	LOXHD1	c.2730G>A	NM_144612.6	NP_653213.6:p.(Pro910=)	NC_000018.9:g.44140377C>T	(Likely) benign	1 lab	f2ab7d8c44
6:41126395 TREM2 C>A	6	41126395	41126395	C	A	TREM2	c.606G>T	NM_001271821.1	NP_001258750.1:p.(Glu202Asp)	NC_000006.11:g.41126395C>A	(Likely) benign	1 lab	f2ac046bbd
19:1003231 GRIN3B G>T	19	1003231	1003231	G	T	GRIN3B	c.529G>T	NM_138690.2	NP_619635.1:p.(Ala177Ser)	NC_000019.9:g.1003231G>T	(Likely) benign	1 lab	f2acd091a4
7:82580313 PCLO A>T	7	82580313	82580313	A	T	PCLO	c.9591T>A	NM_033026.5	NP_149015.2:p.(Asp3197Glu)	NC_000007.13:g.82580313A>T	(Likely) benign	1 lab	f2ace9cbff
X:71915681 PHKA1 T>C	X	71915681	71915681	T	C	PHKA1	c.331A>G	NM_002637.3	NP_002628.2:p.(Ser111Gly)	NC_000023.10:g.71915681T>C	VUS	1 lab	f2acf3334b
17:63223464 RGS9 C>T	17	63223464	63223464	C	T	RGS9	c.1964C>T	NM_003835.3	NP_003826.2:p.(Thr655Ile)	NC_000017.10:g.63223464C>T	(Likely) benign	1 lab	f2ad2713ea
9:88248029 AGTPBP1 T>C	9	88248029	88248029	T	C	AGTPBP1	c.1563A>G	NM_001330701.1	NP_001317630.1:p.(Ser521=)	NC_000009.11:g.88248029T>C	(Likely) benign	1 lab	f2adb7b1cd
9:135781527 TSC1 C>T	9	135781527	135781527	C	T	TSC1	c.1439-1G>A	NM_000368.4	NP_000359.1:p.?	NC_000009.11:g.135781527C>T	(Likely) pathogenic	1 lab	f2ade352d9
19:36211647 KMT2B C>T	19	36211647	36211647	C	T	KMT2B	c.1398C>T	NM_014727.2	NP_055542.1:p.(Ser466=)	NC_000019.9:g.36211647C>T	(Likely) benign	1 lab	f2ade9d26b
2:17697275 RAD51AP2 T>G	2	17697275	17697275	T	G	RAD51AP2	c.2381A>C	NM_001321233.1	NP_001308162.1:p.(Asn794Thr)	NC_000002.11:g.17697275T>G	(Likely) benign	1 lab	f2ae164171
19:50796535 MYH14 C>T	19	50796535	50796535	C	T	MYH14	c.5302C>T	NM_001145809.1	NP_001139281.1:p.(Arg1768Trp)	NC_000019.9:g.50796535C>T	VUS	1 lab	f2ae2576d0
9:131678563 LRRC8A C>A	9	131678563	131678563	C	A	LRRC8A	c.2346C>A	NM_001127244.1	NP_001120716.1:p.(Ser782Arg)	NC_000009.11:g.131678563C>A	VUS	1 lab	f2aeda9a4d
X:24735711 POLA1 C>T	X	24735711	24735711	C	T	POLA1	c.905C>T	NM_016937.3	NP_058633.2:p.(Pro302Leu)	NC_000023.10:g.24735711C>T	(Likely) benign	1 lab	f2aedd790b
9:137653788 COL5A1 C>T	9	137653788	137653788	C	T	COL5A1	c.1953C>T	NM_000093.4	NP_000084.3:p.(Ser651=)	NC_000009.11:g.137653788C>T	(Likely) benign	1 lab	f2aee1a9ab
9:124440961 DAB2IP G>A	9	124440961	124440961	G	A	DAB2IP	c.45G>A	NM_032552.3	NP_115941.2:p.(Ser15=)	NC_000009.11:g.124440961G>A	(Likely) benign	1 lab	f2af2175d2
7:21631115 DNAH11 T>C	7	21631115	21631115	T	C	DNAH11				NC_000007.13:g.21631115T>C	(Likely) benign	1 lab	f2af439f36
X:149680920 MAMLD1 G>A	X	149680920	149680920	G	A	MAMLD1	c.2574G>A	NM_001177465.3	NP_001170936.1:p.(Pro858=)	NC_000023.10:g.149680920G>A	(Likely) benign	1 lab	f2b0c4982a
19:12917472 RNASEH2A T>C	19	12917472	12917472	T	C	RNASEH2A	c.-16T>C	NM_006397.2	NP_006388.2:p.?	NC_000019.9:g.12917472T>C	(Likely) benign	1 lab	f2b21712be
17:29661927 NF1 CA>C	17	29661927	29661928	CA	C	NF1	c.5885del	NM_001042492.3	NP_001035957.1:p.(His1962LeufsTer17)	NC_000017.10:g.29661928del	(Likely) pathogenic	1 lab	f2b2260ca8
8:144590069 ZC3H3 G>A	8	144590069	144590069	G	A	ZC3H3	c.1562C>T	NM_015117.3	NP_055932.2:p.(Ala521Val)	NC_000008.10:g.144590069G>A	(Likely) benign	1 lab	f2b32dba3f
20:62292700 RTEL1 G>C	20	62292700	62292700	G	C	RTEL1	c.152G>C	NM_001283009.1	NP_001269938.1:p.(Cys51Ser)	NC_000020.10:g.62292700G>C	VUS	1 lab	f2b426a957
9:14740208 FREM1 T>C	9	14740208	14740208	T	C	FREM1	c.6279A>G	NM_144966.5	NP_659403.4:p.(Val2093=)	NC_000009.11:g.14740208T>C	(Likely) benign	1 lab	f2b45c1e7c
5:147480080 SPINK5 G>A	5	147480080	147480080	G	A	SPINK5	c.1156G>A	NM_001127698.1	NP_001121170.1:p.(Asp386Asn)	NC_000005.9:g.147480080G>A	(Likely) benign	1 lab	f2b59b21ed
12:64505581 SRGAP1 T>C	12	64505581	64505581	T	C	SRGAP1	c.1959T>C	NM_020762.3	NP_065813.1:p.(Tyr653=)	NC_000012.11:g.64505581T>C	(Likely) benign	1 lab	f2bd5831b2
2:112786292 MERTK G>A	2	112786292	112786292	G	A	MERTK	c.2851G>A	NM_006343.2	NP_006334.2:p.(Ala951Thr)	NC_000002.11:g.112786292G>A	(Likely) benign	1 lab	f2be2ac485
16:89815195 FANCA T>C	16	89815195	89815195	T	C	FANCA	c.3240-20A>G	NM_001286167.2	NP_001273096.1:p.?	NC_000016.9:g.89815195T>C	VUS	1 lab	f2be501c66
1:36932135 CSF3R C>T	1	36932135	36932135	C	T	CSF3R	c.2415G>A	NM_156039.3	NP_724781.1:p.(Ala805=)	NC_000001.10:g.36932135C>T	(Likely) benign	1 lab	f2be766620
7:141341075 AGK A>G	7	141341075	141341075	A	G	AGK	c.754A>G	NM_018238.4	NP_060708.1:p.(Ile252Val)	NC_000007.13:g.141341075A>G	(Likely) benign	1 lab	f2beb55927
17:4575857 PELP1 G>A	17	4575857	4575857	G	A	PELP1	c.2429C>T	NM_014389.3	NP_055204.4:p.(Pro810Leu)	NC_000017.10:g.4575857G>A	VUS	1 lab	f2bf2ffbe7
22:19770518 TBX1 G>C	22	19770518	19770518	G	C	TBX1	c.1092G>C	NM_005992.1	NP_005983.1:p.(Leu364=)	NC_000022.10:g.19770518G>C	(Likely) benign	1 lab	f2bfd346d4
17:73498092 CASKIN2 T>C	17	73498092	73498092	T	C	CASKIN2	c.3063A>G	NM_020753.4	NP_065804.2:p.(Pro1021=)	NC_000017.10:g.73498092T>C	(Likely) benign	1 lab	f2c01871ff
19:13318672 CACNA1A C>CCTGCTGCTGCTG	19	13318672	13318712	C	CCTGCTGCTGCTG	CACNA1A	c.6982_6993dup	NM_023035.2	NP_075461.2:p.(Gln2328_Gln2331dup)	NC_000019.9:g.13318701_13318712dup	(Likely) benign	1 lab	f2c0d1f0f2
22:37272110 NCF4 A>G	22	37272110	37272110	A	G	NCF4	c.1043A>G	NM_013416.3	NP_038202.2:p.(Tyr348Cys)	NC_000022.10:g.37272110A>G	(Likely) benign	1 lab	f2c26767e0
X:128880286 XPNPEP2 A>T	X	128880286	128880286	A	T	XPNPEP2	c.373A>T	NM_003399.5	NP_003390.4:p.(Met125Leu)	NC_000023.10:g.128880286A>T	VUS	1 lab	f2c3a1ec53
19:9086281 MUC16 A>T	19	9086281	9086281	A	T	MUC16	c.5534T>A	NM_024690.2	NP_078966.2:p.(Leu1845His)	NC_000019.9:g.9086281A>T	VUS	1 lab	f2c5efeacd
16:2157965 PKD1 C>T	16	2157965	2157965	C	T	PKD1	c.6984G>A	NM_001009944.2	NP_001009944.2:p.(Glu2328=)	NC_000016.9:g.2157965C>T	(Likely) benign	1 lab	f2c802183c
12:49420670 KMT2D G>C	12	49420670	49420670	G	C	KMT2D	c.15079C>G	NM_003482.3	NP_003473.3:p.(Arg5027Gly)	NC_000012.11:g.49420670G>C	VUS	1 lab	f2c892093f
7:19156283 TWIST1 G>A	7	19156283	19156283	G	A	TWIST1	c.*42+11C>T	NM_000474.3	NP_000465.1:p.?	NC_000007.13:g.19156283G>A	(Likely) benign	1 lab	f2c8cec354
20:25060096 VSX1 C>T	20	25060096	25060096	C	T	VSX1	c.479G>A	NM_001256272.1	NP_001243201.1:p.(Gly160Asp)	NC_000020.10:g.25060096C>T	(Likely) benign	1 lab	f2c923d211
11:72145346 CLPB G>A	11	72145346	72145346	G	A	CLPB	c.173C>T	NM_030813.6	NP_110440.1:p.(Thr58Ile)	NC_000011.9:g.72145346G>A	(Likely) benign	1 lab	f2c9689400
13:44462892 LACC1 G>T	13	44462892	44462892	G	T	LACC1	c.908-1G>T	NM_001350641.1	NP_001337570.1:p.?	NC_000013.10:g.44462892G>T	VUS	1 lab	f2cd54b0ff
17:78086729 GAA G>A	17	78086729	78086729	G	A	GAA	c.1943G>A	NM_000152.3	NP_000143.2:p.(Gly648Asp)	NC_000017.10:g.78086729G>A	(Likely) pathogenic	1 lab	f2d047abaa
2:149851069 KIF5C C>T	2	149851069	149851069	C	T	KIF5C	c.2023+17C>T	NM_004522.3	NP_004513.1:p.?	NC_000002.11:g.149851069C>T	(Likely) benign	1 lab	f2d2075b0b
X:39932948 BCOR C>T	X	39932948	39932948	C	T	BCOR	c.1651G>A	NM_001123385.1	NP_001116857.1:p.(Asp551Asn)	NC_000023.10:g.39932948C>T	(Likely) benign	1 lab	f2d2a18698
17:36484369 GPR179 C>T	17	36484369	36484369	C	T	GPR179	c.5083G>A	NM_001004334.3	NP_001004334.3:p.(Glu1695Lys)	NC_000017.10:g.36484369C>T	VUS	1 lab	f2d3fe94b8
7:780456 DNAAF5 G>A	7	780456	780456	G	A	DNAAF5	c.781G>A	NM_017802.3	NP_060272.3:p.(Val261Ile)	NC_000007.13:g.780456G>A	VUS	1 lab	f2d4eae68d
5:75621300 SV2C T>C	5	75621300	75621300	T	C	SV2C	c.2112T>C	NM_014979.4	NP_055794.3:p.(Ala704=)	NC_000005.9:g.75621300T>C	(Likely) benign	1 lab	f2d86a1c01
1:8420270 RERE G>A	1	8420270	8420270	G	A	RERE	c.3297C>T	NM_012102.3	NP_036234.3:p.(Asp1099=)	NC_000001.10:g.8420270G>A	(Likely) benign	1 lab	f2d8f0c28e
14:105420075 AHNAK2 C>T	14	105420075	105420075	C	T	AHNAK2	c.1713G>A	NM_138420.3	NP_612429.2:p.(Lys571=)	NC_000014.8:g.105420075C>T	(Likely) benign	1 lab	f2d9bfd358
4:88535707 DSPP C>T	4	88535707	88535707	C	T	DSPP	c.1893C>T	NM_014208.3	NP_055023.2:p.(Ser631=)	NC_000004.11:g.88535707C>T	(Likely) benign	1 lab	f2da3b3516
12:111052097 TCTN1 C>G	12	111052097	111052097	C	G	TCTN1	c.110C>G	NM_001082538.2	NP_001076007.1:p.(Ser37Cys)	NC_000012.11:g.111052097C>G	VUS	1 lab	f2dbb3e906
2:206305120 PARD3B G>A	2	206305120	206305120	G	A	PARD3B	c.2582G>A	NM_152526.5	NP_689739.4:p.(Arg861Lys)	NC_000002.11:g.206305120G>A	VUS	1 lab	f2dc80af70
14:105643305 NUDT14 C>T	14	105643305	105643305	C	T	NUDT14	c.185G>A	NM_001318380.1	NP_001305309.1:p.(Arg62Gln)	NC_000014.8:g.105643305C>T	VUS	1 lab	f2dc8b3169
1:216595379 USH2A A>G	1	216595379	216595379	A	G	USH2A	c.300T>C	NM_206933.2	NP_996816.2:p.(Leu100=)	NC_000001.10:g.216595379A>G	(Likely) benign	1 lab	f2de3d27ff
1:42922383 PPCS G>T	1	42922383	42922383	G	T	PPCS	c.147G>T	NM_024664.4	NP_078940.2:p.(Leu49=)	NC_000001.10:g.42922383G>T	(Likely) benign	1 lab	f2e0cfbbef
22:26849290 HPS4 C>T	22	26849290	26849290	C	T	HPS4	c.2036G>A	NM_001349898.1	NP_001336827.1:p.(Ser679Asn)	NC_000022.10:g.26849290C>T	VUS	1 lab	f2e0e135ae
15:85410592 ALPK3 C>T	15	85410592	85410592	C	T	ALPK3	c.5374C>T	NM_020778.4	NP_065829.3:p.(Arg1792Ter)	NC_000015.9:g.85410592C>T	VUS	1 lab	f2e2e739fe
X:129264054 AIFM1 G>A	X	129264054	129264054	G	A	AIFM1	c.1661C>T	NM_004208.3	NP_004199.1:p.(Pro554Leu)	NC_000023.10:g.129264054G>A	VUS	1 lab	f2e3378123
17:66523997 PRKAR1A A>C	17	66523997	66523997	A	C	PRKAR1A	c.725A>C	NM_212471.2	NP_997636.1:p.(Lys242Thr)	NC_000017.10:g.66523997A>C	VUS	1 lab	f2e48a5f78
16:57787063 KATNB1 G>C	16	57787063	57787063	G	C	KATNB1	c.930G>C	NM_005886.2	NP_005877.2:p.(Thr310=)	NC_000016.9:g.57787063G>C	VUS	1 lab	f2e6d73035
16:88798865 PIEZO1 G>T	16	88798865	88798865	G	T	PIEZO1	c.2869C>A	NM_001142864.4	NP_001136336.2:p.(Gln957Lys)	NC_000016.9:g.88798865G>T	VUS	1 lab	f2e70aaa13
4:56233758 SRD5A3 A>C	4	56233758	56233758	A	C	SRD5A3	c.566A>C	NM_024592.4	NP_078868.1:p.(Tyr189Ser)	NC_000004.11:g.56233758A>C	(Likely) benign	1 lab	f2e7facf1f
2:28755002 PLB1 C>G	2	28755002	28755002	C	G	PLB1	c.496C>G	NM_153021.4	NP_694566.4:p.(Leu166Val)	NC_000002.11:g.28755002C>G	VUS	1 lab	f2e881e094
5:150917484 FAT2 A>G	5	150917484	150917484	A	G	FAT2	c.9063T>C	NM_001447.2	NP_001438.1:p.(His3021=)	NC_000005.9:g.150917484A>G	(Likely) benign	1 lab	f2e9e56a24
5:156074487 SGCD A>G	5	156074487	156074487	A	G	SGCD	c.516A>G	NM_000337.5	NP_000328.2:p.(Thr172=)	NC_000005.9:g.156074487A>G	(Likely) benign	1 lab	f2eb4d0a45
9:40704530 SPATA31A3 C>T	9	40704530	40704530	C	T	SPATA31A3	c.2187C>T	NM_001083124.1	NP_001076593.1:p.(Ile729=)	NC_000009.11:g.40704530C>T	(Likely) benign	1 lab	f2eb978769
9:6990438 KDM4C C>T	9	6990438	6990438	C	T	KDM4C	c.389C>T	NM_001353999.1	NP_001340928.1:p.(Thr130Ile)	NC_000009.11:g.6990438C>T	VUS	1 lab	f2ec6251e6
20:10622106 JAG1 A>G	20	10622106	10622106	A	G	JAG1	c.2916+2T>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622106A>G	(Likely) pathogenic	1 lab	f2ec8d2938
X:135570385 BRS3 G>A	X	135570385	135570385	G	A	BRS3	c.112G>A	NM_001727.2	NP_001718.1:p.(Gly38Arg)	NC_000023.10:g.135570385G>A	(Likely) benign	1 lab	f2eca0230b
16:88500529 ZNF469 G>A	16	88500529	88500529	G	A	ZNF469				NC_000016.9:g.88500529G>A	(Likely) benign	1 lab	f2edc47cf2
16:2100422 TSC2 C>T	16	2100422	2100422	C	T	TSC2	c.160C>T	NM_001114382.2	NP_001107854.1:p.(Leu54Phe)	NC_000016.9:g.2100422C>T	VUS	1 lab	f2edf20ead
7:1478557 MICALL2 G>T	7	1478557	1478557	G	T	MICALL2	c.2041C>A	NM_182924.4	NP_891554.1:p.(Arg681=)	NC_000007.13:g.1478557G>T	(Likely) benign	1 lab	f2eedc4043
1:36937710 CSF3R C>T	1	36937710	36937710	C	T	CSF3R	c.1028G>A	NM_156039.3	NP_724781.1:p.(Arg343Gln)	NC_000001.10:g.36937710C>T	(Likely) benign	1 lab	f2eef23b9a
15:62170918 VPS13C C>T	15	62170918	62170918	C	T	VPS13C	c.10030G>A	NM_001018088.2	NP_001018098.1:p.(Gly3344Arg)	NC_000015.9:g.62170918C>T	VUS	1 lab	f2ef27ba1f
2:37579992 QPCT A>G	2	37579992	37579992	A	G	QPCT	c.181A>G	NM_012413.4	NP_036545.1:p.(Ser61Gly)	NC_000002.11:g.37579992A>G	(Likely) benign	1 lab	f2f071513c
16:51175925 SALL1 AT>A	16	51175925	51175927	AT	A	SALL1	c.207del	NM_002968.3	NP_002959.2:p.(Gln69HisfsTer2)	NC_000016.9:g.51175927del	(Likely) pathogenic	1 lab	f2f083ce24
5:1293871 TERT C>T	5	1293871	1293871	C	T	TERT	c.1130G>A	NM_198253.2	NP_937983.2:p.(Arg377His)	NC_000005.9:g.1293871C>T	(Likely) benign	1 lab	f2f0e0fa9e
X:18824656 PPEF1 C>T	X	18824656	18824656	C	T	PPEF1	c.1387C>T	NM_006240.2	NP_006231.2:p.(Arg463Cys)	NC_000023.10:g.18824656C>T	(Likely) benign	1 lab	f2f10b49e1
9:139264803 CARD9 G>C	9	139264803	139264803	G	C	CARD9	c.894C>G	NM_052813.4	NP_434700.2:p.(Ala298=)	NC_000009.11:g.139264803G>C	(Likely) benign	1 lab	f2f17136de
X:11783771 MSL3 G>C	X	11783771	11783771	G	C	MSL3	c.1094G>C	NM_078628.1	NP_523352.1:p.(Ser365Thr)	NC_000023.10:g.11783771G>C	(Likely) benign	1 lab	f2f25037ea
4:126336818 FAT4 C>A	4	126336818	126336818	C	A	FAT4	c.6700C>A	NM_001291303.1	NP_001278232.1:p.(Arg2234=)	NC_000004.11:g.126336818C>A	(Likely) benign	1 lab	f2f28768b6
6:38781861 DNAH8 A>G	6	38781861	38781861	A	G	DNAH8	c.3289A>G	NM_001206927.1	NP_001193856.1:p.(Ile1097Val)	NC_000006.11:g.38781861A>G	VUS	1 lab	f2f3eca51e
2:27593162 EIF2B4 G>A	2	27593162	27593162	G	A	EIF2B4	c.20C>T	NM_001034116.1	NP_001029288.1:p.(Ala7Val)	NC_000002.11:g.27593162G>A	(Likely) benign	1 lab	f2f3fd5408
17:29553609 NF1 C>T	17	29553609	29553609	C	T	NF1	c.2158C>T	NM_000267.3	NP_000258.1:p.(Arg720Trp)	NC_000017.10:g.29553609C>T	(Likely) benign	1 lab	f2f40c684e
16:88499740 ZNF469 C>T	16	88499740	88499740	C	T	ZNF469				NC_000016.9:g.88499740C>T	(Likely) benign	1 lab	f2f4fe25b2
16:57775691 KATNB1 G>A	16	57775691	57775691	G	A	KATNB1	c.133G>A	NM_005886.2	NP_005877.2:p.(Val45Ile)	NC_000016.9:g.57775691G>A	VUS	1 lab	f2f5c5ee97
1:7797373 CAMTA1 G>A	1	7797373	7797373	G	A	CAMTA1	c.3401G>A	NM_015215.3	NP_056030.1:p.(Arg1134His)	NC_000001.10:g.7797373G>A	VUS	1 lab	f2f6657cc5
9:130479998 TTC16 C>T	9	130479998	130479998	C	T	TTC16	c.373C>T	NM_144965.3	NP_659402.1:p.(Gln125Ter)	NC_000009.11:g.130479998C>T	VUS	1 lab	f2f74bc4db
17:78172406 CARD14 C>T	17	78172406	78172406	C	T	CARD14	c.1156C>T	NM_052819.2	NP_438170.1:p.(Pro386Ser)	NC_000017.10:g.78172406C>T	VUS	1 lab	f2f772d28f
4:159627845 ETFDH T>C	4	159627845	159627845	T	C	ETFDH	c.1533T>C	NM_004453.3	NP_004444.2:p.(Asp511=)	NC_000004.11:g.159627845T>C	(Likely) benign	1 lab	f2f7b71e83
X:152991463 ABCD1 G>A	X	152991463	152991463	G	A	ABCD1	c.742G>A	NM_000033.3	NP_000024.2:p.(Gly248Ser)	NC_000023.10:g.152991463G>A	VUS	1 lab	f2f7da69c5
2:233386038 PRSS56 G>A	2	233386038	233386038	G	A	PRSS56	c.105G>A	NM_001195129.1	NP_001182058.1:p.(Ser35=)	NC_000002.11:g.233386038G>A	(Likely) benign	1 lab	f2f95e8001
17:41209104 BRCA1 CT>C	17	41209104	41209106	CT	C	BRCA1	c.5241del	NM_007294.4	NP_009225.1:p.(Gly1748ValfsTer17)	NC_000017.10:g.41209106del	(Likely) pathogenic	1 lab	f2fb06dd2c
15:65917554 SLC24A1 C>T	15	65917554	65917554	C	T	SLC24A1	c.1136C>T	NM_004727.2	NP_004718.1:p.(Thr379Ile)	NC_000015.9:g.65917554C>T	VUS	1 lab	f2fb9cc931
1:237732528 RYR2 C>T	1	237732528	237732528	C	T	RYR2	c.3507C>T	NM_001035.2	NP_001026.2:p.(Asn1169=)	NC_000001.10:g.237732528C>T	(Likely) benign	1 lab	f2fcdffce1
14:77769175 POMT2 G>C	14	77769175	77769175	G	C	POMT2	c.656+3C>G	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77769175G>C	(Likely) benign	1 lab	f2fd5e6839
11:62295312 AHNAK A>G	11	62295312	62295312	A	G	AHNAK	c.6577T>C	NM_001620.2	NP_001611.1:p.(Leu2193=)	NC_000011.9:g.62295312A>G	(Likely) benign	1 lab	f2fd6c6afc
11:18333579 HPS5 CAT>C	11	18333579	18333581	CAT	C	HPS5	c.109-10_109-9del	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18333580_18333581del	(Likely) benign	1 lab	f2ff1c75f0
1:159752114 DUSP23 C>T	1	159752114	159752114	C	T	DUSP23	c.439C>T	NM_001319658.1	NP_001306587.1:p.(Gln147Ter)	NC_000001.10:g.159752114C>T	VUS	1 lab	f303d1eb01
15:57490034 TCF12 A>G	15	57490034	57490034	A	G	TCF12	c.579+11A>G	NM_207037.1	NP_996920.1:p.?	NC_000015.9:g.57490034A>G	(Likely) benign	1 lab	f30648763f
6:32006303 CYP21A2 C>T	6	32006303	32006303	C	T	CYP21A2	c.104C>T	NM_001128590.3	NP_001122062.3:p.(Pro35Leu)	NC_000006.11:g.32006303C>T	VUS	1 lab	f30703857c
X:99888423 TSPAN6 ATC>A	X	99888423	99888430	ATC	A	TSPAN6	c.562_563del	NM_003270.4	NP_003261.1:p.(Asp188CysfsTer7)	NC_000023.10:g.99888429_99888430del	VUS	1 lab	f307789b70
10:73501614 CDH23 G>A	10	73501614	73501614	G	A	CDH23	c.4781G>A	NM_022124.5	NP_071407.4:p.(Arg1594His)	NC_000010.10:g.73501614G>A	VUS	1 lab	f307a83ec9
9:21818081 MTAP C>T	9	21818081	21818081	C	T	MTAP	c.227C>T	NM_002451.3	NP_002442.2:p.(Ala76Val)	NC_000009.11:g.21818081C>T	VUS	1 lab	f307c333b8
16:2122339 TSC2 AGCTGT>A	16	2122339	2122347	AGCTGT	A	TSC2	c.2199_2203del	NM_000548.5	NP_000539.2:p.(Ala736LeufsTer24)	NC_000016.9:g.2122343_2122347del	(Likely) pathogenic	1 lab	f30944a8b7
14:100376633 EML1 A>G	14	100376633	100376633	A	G	EML1	c.1351A>G	NM_001008707.1	NP_001008707.1:p.(Thr451Ala)	NC_000014.8:g.100376633A>G	(Likely) benign	1 lab	f30b95580e
14:105409061 AHNAK2 G>T	14	105409061	105409061	G	T	AHNAK2	c.12727C>A	NM_138420.3	NP_612429.2:p.(Leu4243Met)	NC_000014.8:g.105409061G>T	VUS	1 lab	f30bcfeeb8
3:97503806 ARL6 C>T	3	97503806	97503806	C	T	ARL6	c.262C>T	NM_032146.5	NP_115522.1:p.(Gln88Ter)	NC_000003.11:g.97503806C>T	(Likely) pathogenic	1 lab	f30d32ced4
11:65744168 SART1 C>T	11	65744168	65744168	C	T	SART1	c.1788C>T	NM_005146.5	NP_005137.1:p.(Ser596=)	NC_000011.9:g.65744168C>T	(Likely) benign	1 lab	f30f20f317
9:136083535 OBP2B C>T	9	136083535	136083535	C	T	OBP2B	c.262G>A	NM_001288987.1	NP_001275916.1:p.(Gly88Ser)	NC_000009.11:g.136083535C>T	VUS	1 lab	f311975dee
X:30260407 MAGEB4 G>A	X	30260407	30260407	G	A	MAGEB4	c.155G>A	NM_002367.3	NP_002358.1:p.(Ser52Asn)	NC_000023.10:g.30260407G>A	VUS	1 lab	f313cb76e8
X:8138168 VCX2 C>CA	X	8138168	8138169	C	CA	VCX2	c.324_325insT	NM_016378.3	NP_057462.2:p.(Glu109Ter)	NC_000023.10:g.8138168_8138169insA	(Likely) benign	1 lab	f317d1392b
15:85360594 ALPK3 G>A	15	85360594	85360594	G	A	ALPK3	c.517G>A	NM_020778.4	NP_065829.3:p.(Ala173Thr)	NC_000015.9:g.85360594G>A	VUS	1 lab	f318179a97
7:128492914 FLNC CA>C	7	128492914	128492915	CA	C	FLNC	c.6038del	NM_001458.5	NP_001449.3:p.(His2013ProfsTer3)	NC_000007.13:g.128492915del	(Likely) pathogenic	1 lab	f318ff6cc7
2:96950142 SNRNP200 T>C	2	96950142	96950142	T	C	SNRNP200	c.4346A>G	NM_014014.4	NP_054733.2:p.(Asn1449Ser)	NC_000002.11:g.96950142T>C	(Likely) benign	1 lab	f319d11b91
11:66335781 CTSF C>T	11	66335781	66335781	C	T	CTSF	c.177G>A	NM_003793.3	NP_003784.2:p.(Arg59=)	NC_000011.9:g.66335781C>T	(Likely) benign	1 lab	f31afd9bdf
2:27549576 GTF3C2 G>A	2	27549576	27549576	G	A	GTF3C2	c.2735C>T	NM_001318909.1	NP_001305838.1:p.(Ser912Phe)	NC_000002.11:g.27549576G>A	(Likely) benign	1 lab	f31cdef6cf
9:94794758 SPTLC1 C>T	9	94794758	94794758	C	T	SPTLC1	c.1379G>A	NM_001281303.1	NP_001268232.1:p.(Arg460His)	NC_000009.11:g.94794758C>T	(Likely) benign	1 lab	f31ddd119e
16:30736166 SRCAP G>A	16	30736166	30736166	G	A	SRCAP	c.5421G>A	NM_006662.2	NP_006653.2:p.(Ala1807=)	NC_000016.9:g.30736166G>A	(Likely) benign	1 lab	f31e2f24c2
7:5567528 ACTB G>A	7	5567528	5567528	G	A	ACTB	c.985-6C>T	NM_001101.3	NP_001092.1:p.?	NC_000007.13:g.5567528G>A	(Likely) benign	1 lab	f32057e40b
4:981675 IDUA C>T	4	981675	981675	C	T	IDUA	c.237C>T	NM_000203.5	NP_000194.2:p.(Ala79=)	NC_000004.11:g.981675C>T	(Likely) benign	1 lab	f3210e5fa0
19:54313561 NLRP12 C>T	19	54313561	54313561	C	T	NLRP12	c.1352G>A	NM_001277126.1	NP_001264055.1:p.(Arg451His)	NC_000019.9:g.54313561C>T	(Likely) benign	1 lab	f321281458
17:78024028 CCDC40 G>A	17	78024028	78024028	G	A	CCDC40	c.1105G>A	NM_017950.3	NP_060420.2:p.(Ala369Thr)	NC_000017.10:g.78024028G>A	(Likely) benign	1 lab	f321623e37
3:48508393 TREX1 G>A	3	48508393	48508393	G	A	TREX1	c.309G>A	NM_007248.4	NP_009179.2:p.(Arg103=)	NC_000003.11:g.48508393G>A	(Likely) benign	1 lab	f32179e3c4
8:11400814 BLK G>A	8	11400814	11400814	G	A	BLK	c.81G>A	NM_001715.2	NP_001706.2:p.(Lys27=)	NC_000008.10:g.11400814G>A	(Likely) benign	1 lab	f321a7fd2a
12:80749632 OTOGL G>A	12	80749632	80749632	G	A	OTOGL	c.5683G>A	NM_173591.3	NP_775862.3:p.(Asp1895Asn)	NC_000012.11:g.80749632G>A	(Likely) benign	1 lab	f324cb147b
2:173337540 ITGA6 G>GA	2	173337540	173337541	G	GA	ITGA6	c.341dup	NM_001316306.1	NP_001303235.1:p.(Asp114GlufsTer6)	NC_000002.11:g.173337541dup	VUS	1 lab	f3258524c2
X:153036315 PLXNB3 G>A	X	153036315	153036315	G	A	PLXNB3	c.2182G>A	NM_001163257.1	NP_001156729.1:p.(Val728Met)	NC_000023.10:g.153036315G>A	(Likely) benign	1 lab	f32593d19a
X:148564555 IDS C>A	X	148564555	148564555	C	A	IDS	c.1375G>T	NM_000202.7	NP_000193.1:p.(Glu459Ter)	NC_000023.10:g.148564555C>A	(Likely) pathogenic	1 lab	f325e4b666
7:45662327 ADCY1 C>T	7	45662327	45662327	C	T	ADCY1	c.1005C>T	NM_021116.3	NP_066939.1:p.(Phe335=)	NC_000007.13:g.45662327C>T	(Likely) benign	1 lab	f32685d713
1:156028138 LAMTOR2 C>T	1	156028138	156028138	C	T	LAMTOR2	c.354C>T	NM_014017.3	NP_054736.1:p.(Pro118=)	NC_000001.10:g.156028138C>T	(Likely) benign	1 lab	f3271c8c85
X:148037999 AFF2 C>T	X	148037999	148037999	C	T	AFF2	c.2424C>T	NM_002025.3	NP_002016.2:p.(Asp808=)	NC_000023.10:g.148037999C>T	(Likely) benign	1 lab	f3287df7de
9:4625321 SPATA6L G>A	9	4625321	4625321	G	A	SPATA6L	c.300+6C>T	NM_001353491.1	NP_001340420.1:p.?	NC_000009.11:g.4625321G>A	(Likely) benign	1 lab	f32afa5ddc
6:157488212 ARID1B T>C	6	157488212	157488212	T	C	ARID1B	c.2918T>C	NM_020732.3	NP_065783.3:p.(Met973Thr)	NC_000006.11:g.157488212T>C	VUS	1 lab	f32b2e1541
9:13138157 MPDZ A>G	9	13138157	13138157	A	G	MPDZ	c.4004-5T>C	NM_003829.4	NP_003820.2:p.?	NC_000009.11:g.13138157A>G	(Likely) benign	1 lab	f32baea3eb
15:49044590 CEP152 T>C	15	49044590	49044590	T	C	CEP152	c.3422A>G	NM_001194998.1	NP_001181927.1:p.(His1141Arg)	NC_000015.9:g.49044590T>C	(Likely) benign	1 lab	f32c507d29
X:41485880 CASK A>G	X	41485880	41485880	A	G	CASK	c.992T>C	NM_001367721.1	NP_001354650.1:p.(Phe331Ser)	NC_000023.10:g.41485880A>G	VUS	1 lab	f32d835bd6
1:196695675 CFH G>T	1	196695675	196695675	G	T	CFH	c.1949G>T	NM_000186.3	NP_000177.2:p.(Gly650Val)	NC_000001.10:g.196695675G>T	(Likely) benign	1 lab	f32ea5f32f
8:145639669 SLC39A4 C>T	8	145639669	145639669	C	T	SLC39A4	c.1051G>A	NM_017767.2	NP_060237.2:p.(Ala351Thr)	NC_000008.10:g.145639669C>T	VUS	1 lab	f330a89515
8:55538507 RP1 C>T	8	55538507	55538507	C	T	RP1	c.2065C>T	NM_006269.1	NP_006260.1:p.(Gln689Ter)	NC_000008.10:g.55538507C>T	(Likely) pathogenic	1 lab	f3314a54f1
17:2575940 PAFAH1B1 G>GAAT	17	2575940	2575941	G	GAAT	PAFAH1B1	c.569-9_569-8insAAT	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2575940_2575941insAAT	(Likely) pathogenic	1 lab	f333c6fdaf
1:39907911 MACF1 G>A	1	39907911	39907911	G	A	MACF1	c.12690G>A	NM_012090.5	NP_036222.3:p.(Thr4230=)	NC_000001.10:g.39907911G>A	(Likely) benign	1 lab	f33505bf40
16:83999212 OSGIN1 G>A	16	83999212	83999212	G	A	OSGIN1	c.1034G>A	NM_182981.2	NP_892026.1:p.(Arg345Gln)	NC_000016.9:g.83999212G>A	(Likely) benign	1 lab	f339afa6c0
17:73723511 ITGB4 C>T	17	73723511	73723511	C	T	ITGB4	c.189C>T	NM_000213.4	NP_000204.3:p.(Thr63=)	NC_000017.10:g.73723511C>T	(Likely) benign	1 lab	f339afd95c
X:70680484 TAF1 C>T	X	70680484	70680484	C	T	TAF1	c.5296C>T	NM_001286074.1	NP_001273003.1:p.(Leu1766=)	NC_000023.10:g.70680484C>T	(Likely) benign	1 lab	f33a592b9d
4:138449708 PCDH18 C>T	4	138449708	138449708	C	T	PCDH18	c.2664G>A	NM_019035.4	NP_061908.1:p.(Gly888=)	NC_000004.11:g.138449708C>T	(Likely) benign	1 lab	f33accf9df
11:78573998 TENM4 C>A	11	78573998	78573998	C	A	TENM4	c.1255+9G>T	NM_001098816.2	NP_001092286.2:p.?	NC_000011.9:g.78573998C>A	(Likely) benign	1 lab	f33b32266e
12:26784902 ITPR2 G>A	12	26784902	26784902	G	A	ITPR2	c.2831C>T	NM_002223.3	NP_002214.2:p.(Pro944Leu)	NC_000012.11:g.26784902G>A	VUS	1 lab	f33d1d9afb
17:29554309 NF1 G>T	17	29554309	29554309	G	T	NF1	c.2325G>T	NM_000267.3	NP_000258.1:p.(Glu775Asp)	NC_000017.10:g.29554309G>T	(Likely) pathogenic	1 lab	f33d669563
14:92537364 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGT	14	92537364	92537379	C	CTGCTGCTGCTGCTGCTGCTGT	ATXN3	c.905_906insACAGCAGCAGCAGCAGCAGCA	NM_004993.5	NP_004984.2:p.(Gln299_Gln305dup)	NC_000014.8:g.92537378_92537379insCTGCTGTTGCTGCTGCTGCTG	(Likely) benign	1 lab	f33f1be3d6
16:53692699 RPGRIP1L T>A	16	53692699	53692699	T	A	RPGRIP1L	c.1335A>T	NM_015272.4	NP_056087.2:p.(Ile445=)	NC_000016.9:g.53692699T>A	(Likely) benign	1 lab	f33f2b105e
6:82910404 IBTK C>T	6	82910404	82910404	C	T	IBTK	c.2812G>A	NM_015525.3	NP_056340.2:p.(Val938Ile)	NC_000006.11:g.82910404C>T	(Likely) benign	1 lab	f33fb49f9f
9:13196190 MPDZ T>C	9	13196190	13196190	T	C	MPDZ	c.1586A>G	NM_003829.4	NP_003820.2:p.(Asp529Gly)	NC_000009.11:g.13196190T>C	VUS	1 lab	f3427dfdfd
1:155204797 GBA1 G>A	1	155204797	155204797	G	A	GBA1	c.1600C>T	NM_001005741.2	NP_001005741.1:p.(Arg534Cys)	NC_000001.10:g.155204797G>A	VUS	1 lab	f3438b02e0
16:1551445 TELO2 G>A	16	1551445	1551445	G	A	TELO2	c.1306G>A	NM_016111.3	NP_057195.2:p.(Glu436Lys)	NC_000016.9:g.1551445G>A	VUS	1 lab	f344623ca7
22:20760516 ZNF74 C>A	22	20760516	20760516	C	A	ZNF74	c.1193C>A	NM_003426.4	NP_003417.2:p.(Thr398Asn)	NC_000022.10:g.20760516C>A	(Likely) benign	1 lab	f346a2cb2c
X:153583250 FLNA G>T	X	153583250	153583250	G	T	FLNA	c.5160C>A	NM_001110556.2	NP_001104026.1:p.(Tyr1720Ter)	NC_000023.10:g.153583250G>T	(Likely) pathogenic	1 lab	f346ecf2c8
21:47811308 PCNT G>C	21	47811308	47811308	G	C	PCNT	c.4216+17G>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47811308G>C	(Likely) benign	1 lab	f34776e3b2
X:147733615 AFF2 T>G	X	147733615	147733615	T	G	AFF2	c.143T>G	NM_002025.3	NP_002016.2:p.(Phe48Cys)	NC_000023.10:g.147733615T>G	VUS	1 lab	f348af43ad
5:127873102 FBN2 C>T	5	127873102	127873102	C	T	FBN2	c.195G>A	NM_001999.3	NP_001990.2:p.(Glu65=)	NC_000005.9:g.127873102C>T	(Likely) benign	1 lab	f34a552d3d
14:105413425 AHNAK2 G>C	14	105413425	105413425	G	C	AHNAK2	c.8363C>G	NM_138420.3	NP_612429.2:p.(Ala2788Gly)	NC_000014.8:g.105413425G>C	(Likely) benign	1 lab	f34ac29a5c
5:77437122 AP3B1 T>C	5	77437122	77437122	T	C	AP3B1	c.1348A>G	NM_001271769.1	NP_001258698.1:p.(Ile450Val)	NC_000005.9:g.77437122T>C	VUS	1 lab	f34aec3cd1
13:28623525 FLT3 G>A	13	28623525	28623525	G	A	FLT3	c.1032C>T	NM_004119.2	NP_004110.2:p.(Ile344=)	NC_000013.10:g.28623525G>A	(Likely) benign	1 lab	f34d07a516
9:139397646 NOTCH1 C>T	9	139397646	139397646	C	T	NOTCH1	c.5155G>A	NM_017617.5	NP_060087.3:p.(Glu1719Lys)	NC_000009.11:g.139397646C>T	VUS	1 lab	f34d162e03
6:31928039 SKIC2 C>G	6	31928039	31928039	C	G	SKIC2	c.279C>G	NM_006929.4	NP_008860.4:p.(Val93=)	NC_000006.11:g.31928039C>G	(Likely) benign	1 lab	f34d479804
17:41245702 BRCA1 A>G	17	41245702	41245702	A	G	BRCA1	c.1846T>C	NM_007294.3	NP_009225.1:p.(Ser616Pro)	NC_000017.10:g.41245702A>G	(Likely) benign	1 lab	f34e509ffd
2:209212708 PIKFYVE G>A	2	209212708	209212708	G	A	PIKFYVE	c.5335G>A	NM_015040.3	NP_055855.2:p.(Gly1779Ser)	NC_000002.11:g.209212708G>A	VUS	1 lab	f34f8f1dcd
19:42799172 CIC C>T	19	42799172	42799172	C	T	CIC	c.7383C>T	NM_001304815.1	NP_001291744.1:p.(Ser2461=)	NC_000019.9:g.42799172C>T	(Likely) benign	1 lab	f34fc8cc86
19:6366382 CLPP C>T	19	6366382	6366382	C	T	CLPP	c.661+8C>T	NM_006012.2	NP_006003.1:p.?	NC_000019.9:g.6366382C>T	(Likely) benign	1 lab	f35275f24b
7:147336347 CNTNAP2 G>A	7	147336347	147336347	G	A	CNTNAP2	c.2047G>A	NM_014141.5	NP_054860.1:p.(Glu683Lys)	NC_000007.13:g.147336347G>A	VUS	1 lab	f353273327
4:126412387 FAT4 A>G	4	126412387	126412387	A	G	FAT4	c.14416A>G	NM_001291303.1	NP_001278232.1:p.(Ser4806Gly)	NC_000004.11:g.126412387A>G	VUS	1 lab	f3555cf2c9
20:61492458 TCFL5 C>T	20	61492458	61492458	C	T	TCFL5	c.565G>A	NM_001301726.1	NP_001288655.1:p.(Asp189Asn)	NC_000020.10:g.61492458C>T	VUS	1 lab	f357f2c80a
2:26781389 OTOF G>A	2	26781389	26781389	G	A	OTOF	c.51C>T	NM_194248.2	NP_919224.1:p.(Gly17=)	NC_000002.11:g.26781389G>A	(Likely) benign	1 lab	f359efcc64
2:48921438 LHCGR T>C	2	48921438	48921438	T	C	LHCGR	c.872A>G	NM_000233.3	NP_000224.2:p.(Asn291Ser)	NC_000002.11:g.48921438T>C	(Likely) benign	1 lab	f35a22703d
13:23913901 SACS G>T	13	23913901	23913901	G	T	SACS	c.4114C>A	NM_014363.5	NP_055178.3:p.(Pro1372Thr)	NC_000013.10:g.23913901G>T	VUS	1 lab	f35a33c15d
7:23183589 KLHL7 G>A	7	23183589	23183589	G	A	KLHL7	c.594G>A	NM_018846.4	NP_061334.4:p.(Thr198=)	NC_000007.13:g.23183589G>A	(Likely) benign	1 lab	f35b5aecef
1:16460064 EPHA2 G>A	1	16460064	16460064	G	A	EPHA2	c.1776C>T	NM_004431.4	NP_004422.2:p.(His592=)	NC_000001.10:g.16460064G>A	(Likely) benign	1 lab	f35d36e48b
13:103275272 TPP2 C>T	13	103275272	103275272	C	T	TPP2	c.666C>T	NM_001367947.1	NP_001354876.1:p.(Thr222=)	NC_000013.10:g.103275272C>T	(Likely) benign	1 lab	f35d9107d1
X:153281508 IRAK1 G>A	X	153281508	153281508	G	A	IRAK1	c.1277C>T	NM_001569.3	NP_001560.2:p.(Thr426Met)	NC_000023.10:g.153281508G>A	(Likely) benign	1 lab	f35dbe1dbc
18:77246370 NFATC1 G>A	18	77246370	77246370	G	A	NFATC1	c.2215G>A	NM_001278669.1	NP_001265598.1:p.(Asp739Asn)	NC_000018.9:g.77246370G>A	VUS	1 lab	f35e654d58
19:39913460 PLEKHG2 G>A	19	39913460	39913460	G	A	PLEKHG2	c.1766G>A	NM_022835.2	NP_073746.2:p.(Arg589Gln)	NC_000019.9:g.39913460G>A	(Likely) benign	1 lab	f35f4c1c93
10:73570246 CDH23 G>C	10	73570246	73570246	G	C	CDH23	c.8997G>C	NM_022124.5	NP_071407.4:p.(Lys2999Asn)	NC_000010.10:g.73570246G>C	VUS	1 lab	f35f7e0612
X:119670866 CUL4B C>T	X	119670866	119670866	C	T	CUL4B	c.2016G>A	NM_003588.3	NP_003579.3:p.(Pro672=)	NC_000023.10:g.119670866C>T	(Likely) benign	1 lab	f360d31e9e
6:3225154 TUBB2B C>A	6	3225154	3225154	C	A	TUBB2B	c.1169G>T	NM_178012.4	NP_821080.1:p.(Arg390Leu)	NC_000006.11:g.3225154C>A	VUS	1 lab	f365a1f2ae
16:3781420 CREBBP T>G	16	3781420	3781420	T	G	CREBBP	c.4945A>C	NM_004380.2	NP_004371.2:p.(Ile1649Leu)	NC_000016.9:g.3781420T>G	VUS	1 lab	f36bbe178d
X:151138735 GABRE C>T	X	151138735	151138735	C	T	GABRE	c.196G>A	NM_004961.3	NP_004952.2:p.(Gly66Ser)	NC_000023.10:g.151138735C>T	(Likely) benign	1 lab	f36bf24e64
10:122624690 WDR11 T>C	10	122624690	122624690	T	C	WDR11	c.845T>C	NM_018117.11	NP_060587.8:p.(Ile282Thr)	NC_000010.10:g.122624690T>C	VUS	1 lab	f36d197495
3:49698964 BSN G>A	3	49698964	49698964	G	A	BSN	c.9686G>A	NM_003458.3	NP_003449.2:p.(Arg3229Gln)	NC_000003.11:g.49698964G>A	VUS	1 lab	f36d9da1e7
17:40688573 NAGLU G>C	17	40688573	40688573	G	C	NAGLU	c.283G>C	NM_000263.3	NP_000254.2:p.(Asp95His)	NC_000017.10:g.40688573G>C	VUS	1 lab	f36e9a5123
4:85676548 WDFY3 A>G	4	85676548	85676548	A	G	WDFY3	c.5430T>C	NM_014991.4	NP_055806.2:p.(Asp1810=)	NC_000004.11:g.85676548A>G	(Likely) benign	1 lab	f36ebd612c
20:62311237 RTEL1 C>T	20	62311237	62311237	C	T	RTEL1	c.1073C>T	NM_001283009.1	NP_001269938.1:p.(Thr358Met)	NC_000020.10:g.62311237C>T	VUS	1 lab	f36fd9bfd6
14:91806244 CCDC88C C>T	14	91806244	91806244	C	T	CCDC88C	c.608G>A	NM_001080414.3	NP_001073883.2:p.(Arg203Gln)	NC_000014.8:g.91806244C>T	VUS	1 lab	f36ff8e4d3
19:35804296 MAG C>A	19	35804296	35804296	C	A	MAG	c.1745C>A	NM_001199216.1	NP_001186145.1:p.(Thr582Asn)	NC_000019.9:g.35804296C>A	VUS	1 lab	f370a71556
12:91449864 KERA T>A	12	91449864	91449864	T	A	KERA	c.195A>T	NM_007035.3	NP_008966.1:p.(Glu65Asp)	NC_000012.11:g.91449864T>A	VUS	1 lab	f371888cc4
1:156105762 LMNA G>A	1	156105762	156105762	G	A	LMNA				NC_000001.10:g.156105762G>A	VUS	1 lab	f371cd7854
1:39907626 MACF1 T>C	1	39907626	39907626	T	C	MACF1	c.12498T>C	NM_012090.5	NP_036222.3:p.(Ala4166=)	NC_000001.10:g.39907626T>C	(Likely) benign	1 lab	f373d970bf
X:149681087 MAMLD1 C>T	X	149681087	149681087	C	T	MAMLD1	c.2741C>T	NM_001177465.3	NP_001170936.1:p.(Thr914Met)	NC_000023.10:g.149681087C>T	(Likely) benign	1 lab	f374680a38
19:48654481 LIG1 A>C	19	48654481	48654481	A	C	LIG1	c.571+8T>G	NM_001320970.1	NP_001307899.1:p.?	NC_000019.9:g.48654481A>C	(Likely) benign	1 lab	f375d63497
21:34799217 IFNGR2 G>A	21	34799217	34799217	G	A	IFNGR2	c.496G>A	NM_001329128.1	NP_001316057.1:p.(Glu166Lys)	NC_000021.8:g.34799217G>A	VUS	1 lab	f376347749
16:4385366 GLIS2 C>T	16	4385366	4385366	C	T	GLIS2	c.747C>T	NM_001318918.1	NP_001305847.1:p.(Asn249=)	NC_000016.9:g.4385366C>T	(Likely) benign	1 lab	f3773dc200
X:153599376 FLNA G>C	X	153599376	153599376	G	C	FLNA	c.238C>G	NM_001110556.2	NP_001104026.1:p.(Leu80Val)	NC_000023.10:g.153599376G>C	(Likely) pathogenic	1 lab	f3787df17c
X:107821195 COL4A5 C>T	X	107821195	107821195	C	T	COL4A5	c.623C>T	NM_033380.2	NP_203699.1:p.(Pro208Leu)	NC_000023.10:g.107821195C>T	VUS	1 lab	f3795333ab
14:79175555 NRXN3 G>C	14	79175555	79175555	G	C	NRXN3	c.1222-5G>C	NM_001330195.1	NP_001317124.1:p.?	NC_000014.8:g.79175555G>C	(Likely) benign	1 lab	f37cf9555e
1:26624544 UBXN11 G>T	1	26624544	26624544	G	T	UBXN11	c.209C>A	NM_183008.2	NP_892120.2:p.(Ser70Tyr)	NC_000001.10:g.26624544G>T	(Likely) benign	1 lab	f37d6cc87a
2:178704985 PDE11A T>C	2	178704985	178704985	T	C	PDE11A	c.1493A>G	NM_016953.4	NP_058649.3:p.(Asp498Gly)	NC_000002.11:g.178704985T>C	VUS	1 lab	f38059bee2
9:139317674 PMPCA T>A	9	139317674	139317674	T	A	PMPCA	c.1536T>A	NM_015160.2	NP_055975.1:p.(Ser512Arg)	NC_000009.11:g.139317674T>A	VUS	1 lab	f38072cec2
4:166996070 TLL1 C>T	4	166996070	166996070	C	T	TLL1	c.2229C>T	NM_012464.4	NP_036596.3:p.(His743=)	NC_000004.11:g.166996070C>T	(Likely) benign	1 lab	f38265abd5
5:125912789 ALDH7A1 C>A	5	125912789	125912789	C	A	ALDH7A1	c.632G>T	NM_001182.4	NP_001173.2:p.(Cys211Phe)	NC_000005.9:g.125912789C>A	VUS	1 lab	f38307a965
X:101969814 ARMCX5-GPRASP2 T>C	X	101969814	101969814	T	C	ARMCX5-GPRASP2	c.17T>C	NM_001199818.1	NP_001186747.1:p.(Ile6Thr)	NC_000023.10:g.101969814T>C	VUS	1 lab	f383563b00
3:9406960 THUMPD3 C>T	3	9406960	9406960	C	T	THUMPD3	c.208C>T	NM_015453.2	NP_056268.2:p.(Arg70Cys)	NC_000003.11:g.9406960C>T	VUS	1 lab	f384603c98
17:18024532 MYO15A C>T	17	18024532	18024532	C	T	MYO15A	c.2418C>T	NM_016239.3	NP_057323.3:p.(Phe806=)	NC_000017.10:g.18024532C>T	(Likely) benign	1 lab	f385618e67
21:34632925 IFNAR2 G>C	21	34632925	34632925	G	C	IFNAR2	c.733G>C	NM_001289125.1	NP_001276054.1:p.(Gly245Arg)	NC_000021.8:g.34632925G>C	(Likely) benign	1 lab	f3857bf9bb
2:233712227 GIGYF2 A>ACAG	2	233712227	233712246	A	ACAG	GIGYF2	c.3647_3649dup	NM_015575.3	NP_056390.2:p.(Gln1216dup)	NC_000002.11:g.233712244_233712246dup	VUS	1 lab	f385b4ffe3
2:179542356 TTN G>A	2	179542356	179542356	G	A	TTN	c.34283C>T	NM_001267550.1	NP_001254479.1:p.(Pro11428Leu)	NC_000002.11:g.179542356G>A	VUS	1 lab	f3862dcae4
7:18633644 HDAC9 G>A	7	18633644	18633644	G	A	HDAC9	c.713G>A	NM_001321868.1	NP_001308797.1:p.(Arg238Gln)	NC_000007.13:g.18633644G>A	VUS	1 lab	f38690c05b
22:21224646 SNAP29 G>A	22	21224646	21224646	G	A	SNAP29	c.259G>A	NM_004782.3	NP_004773.1:p.(Val87Ile)	NC_000022.10:g.21224646G>A	VUS	1 lab	f387cdfbc4
17:29665159 NF1 T>G	17	29665159	29665159	T	G	NF1	c.6756+2T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29665159T>G	(Likely) pathogenic	1 lab	f387e8b409
6:44278802 AARS2 G>A	6	44278802	44278802	G	A	AARS2	c.678C>T	NM_020745.3	NP_065796.1:p.(Tyr226=)	NC_000006.11:g.44278802G>A	(Likely) benign	1 lab	f38bfc4bcc
2:32640461 BIRC6 C>T	2	32640461	32640461	C	T	BIRC6	c.2102C>T	NM_016252.3	NP_057336.3:p.(Pro701Leu)	NC_000002.11:g.32640461C>T	(Likely) benign	1 lab	f38c08fa06
3:164748558 SI G>T	3	164748558	164748558	G	T	SI	c.2834C>A	NM_001041.3	NP_001032.2:p.(Pro945Gln)	NC_000003.11:g.164748558G>T	VUS	1 lab	f38fa22198
16:2159568 PKD1 T>C	16	2159568	2159568	T	C	PKD1	c.5600A>G	NM_001009944.2	NP_001009944.2:p.(Asn1867Ser)	NC_000016.9:g.2159568T>C	VUS	1 lab	f39004d9d2
20:62325735 RTEL1 G>A	20	62325735	62325735	G	A	RTEL1	c.3003G>A	NM_001283009.1	NP_001269938.1:p.(Ala1001=)	NC_000020.10:g.62325735G>A	(Likely) benign	1 lab	f3919e5ef0
X:129804010 ENOX2 C>T	X	129804010	129804010	C	T	ENOX2	c.710G>A	NM_182314.2	NP_872114.1:p.(Arg237His)	NC_000023.10:g.129804010C>T	VUS	1 lab	f39250beb7
11:1260744 MUC5B A>AGCGT	11	1260744	1260745	A	AGCGT	MUC5B	c.3531_3532insGCGT	NM_002458.2	NP_002449.2:p.(Thr1178AlafsTer33)	NC_000011.9:g.1260744_1260745insGCGT	(Likely) benign	1 lab	f393a41bd1
6:152651206 SYNE1 T>C	6	152651206	152651206	T	C	SYNE1	c.14614A>G	NM_182961.3	NP_892006.3:p.(Ile4872Val)	NC_000006.11:g.152651206T>C	(Likely) benign	1 lab	f393f96923
1:874780 SAMD11 C>T	1	874780	874780	C	T	SAMD11	c.646C>T	NM_152486.3	NP_689699.2:p.(Leu216Phe)	NC_000001.10:g.874780C>T	(Likely) benign	1 lab	f3962d1c15
X:50376734 SHROOM4 C>T	X	50376734	50376734	C	T	SHROOM4	c.2339G>A	NM_020717.3	NP_065768.2:p.(Ser780Asn)	NC_000023.10:g.50376734C>T	(Likely) benign	1 lab	f3a573487c
16:2103384 TSC2 GCAGC>G	16	2103384	2103389	GCAGC	G	TSC2	c.269_272del	NM_000548.5	NP_000539.2:p.(Gln90ArgfsTer15)	NC_000016.9:g.2103386_2103389del	(Likely) pathogenic	1 lab	f397422026
16:70998647 HYDIN A>T	16	70998647	70998647	A	T	HYDIN	c.5772T>A	NM_001270974.2	NP_001257903.1:p.(Asn1924Lys)	NC_000016.9:g.70998647A>T	VUS	1 lab	f39a27dbf3
4:79428621 FRAS1 C>A	4	79428621	79428621	C	A	FRAS1	c.9363C>A	NM_025074.7	NP_079350.5:p.(Asp3121Glu)	NC_000004.11:g.79428621C>A	VUS	1 lab	f39ac87804
16:1843672 IGFALS T>C	16	1843672	1843672	T	C	IGFALS	c.-19A>G	NM_004970.2	NP_004961.1:p.?	NC_000016.9:g.1843672T>C	(Likely) benign	1 lab	f39b570d34
2:121732548 GLI2 C>T	2	121732548	121732548	C	T	GLI2	c.1231C>T	NM_005270.4	NP_005261.2:p.(Gln411Ter)	NC_000002.11:g.121732548C>T	(Likely) pathogenic	1 lab	f39b679fd4
X:153129351 L1CAM G>A	X	153129351	153129351	G	A	L1CAM	c.3444C>T	NM_001278116.1	NP_001265045.1:p.(Gly1148=)	NC_000023.10:g.153129351G>A	(Likely) benign	1 lab	f39b8e6fc7
7:2054230 MAD1L1 C>T	7	2054230	2054230	C	T	MAD1L1	c.1266G>A	NM_003550.2	NP_003541.2:p.(Leu422=)	NC_000007.13:g.2054230C>T	(Likely) benign	1 lab	f3a018068a
3:27346454 NEK10 G>A	3	27346454	27346454	G	A	NEK10	c.812C>T	NM_152534.4	NP_689747.3:p.(Ala271Val)	NC_000003.11:g.27346454G>A	VUS	1 lab	f3a3d2c59d
8:41789821 KAT6A G>A	8	41789821	41789821	G	A	KAT6A	c.5917C>T	NM_006766.4	NP_006757.2:p.(His1973Tyr)	NC_000008.10:g.41789821G>A	VUS	1 lab	f3a47bb8b8
7:42003898 GLI3 C>A	7	42003898	42003898	C	A	GLI3	c.*30G>T	NM_000168.5	NP_000159.3:p.?	NC_000007.13:g.42003898C>A	(Likely) benign	1 lab	f3a4c0c5c8
7:99778263 STAG3 T>C	7	99778263	99778263	T	C	STAG3	c.84T>C	NM_001282717.1	NP_001269646.1:p.(Phe28=)	NC_000007.13:g.99778263T>C	(Likely) benign	1 lab	f3a8900420
16:1412545 GNPTG C>T	16	1412545	1412545	C	T	GNPTG	c.609+10C>T	NM_032520.4	NP_115909.1:p.?	NC_000016.9:g.1412545C>T	(Likely) benign	1 lab	f3a996f8b4
18:29104700 DSG2 T>G	18	29104700	29104700	T	G	DSG2	c.863T>G	NM_001943.3	NP_001934.2:p.(Val288Gly)	NC_000018.9:g.29104700T>G	VUS	1 lab	f3b00c4588
7:2987427 CARD11 A>G	7	2987427	2987427	A	G	CARD11	c.8-6T>C	NM_001324281.1	NP_001311210.1:p.?	NC_000007.13:g.2987427A>G	(Likely) benign	1 lab	f3b1cef048
7:42007228 GLI3 AG>A	7	42007228	42007233	AG	A	GLI3	c.2396del	NM_000168.6	NP_000159.3:p.(Pro799LeufsTer10)	NC_000007.13:g.42007233del	(Likely) pathogenic	1 lab	f3b1d8417f
2:26686897 OTOF G>A	2	26686897	26686897	G	A	OTOF	c.5038C>T	NM_194248.2	NP_919224.1:p.(Arg1680Cys)	NC_000002.11:g.26686897G>A	VUS	1 lab	f3b21481e0
5:150945609 FAT2 A>G	5	150945609	150945609	A	G	FAT2	c.2884T>C	NM_001447.2	NP_001438.1:p.(Tyr962His)	NC_000005.9:g.150945609A>G	VUS	1 lab	f3b222f11f
15:51828890 DMXL2 G>C	15	51828890	51828890	G	C	DMXL2	c.1787C>G	NM_001174116.1	NP_001167587.1:p.(Ser596Cys)	NC_000015.9:g.51828890G>C	(Likely) benign	1 lab	f3b371779f
4:56877659 CEP135 T>C	4	56877659	56877659	T	C	CEP135	c.2587T>C	NM_025009.4	NP_079285.2:p.(Ser863Pro)	NC_000004.11:g.56877659T>C	VUS	1 lab	f3b5ba96d9
4:106307761 PPA2 C>T	4	106307761	106307761	C	T	PPA2	c.902G>A	NM_176869.2	NP_789845.1:p.(Arg301His)	NC_000004.11:g.106307761C>T	(Likely) benign	1 lab	f3b8546f44
10:16990497 CUBN G>A	10	16990497	16990497	G	A	CUBN	c.5189C>T	NM_001081.3	NP_001072.2:p.(Thr1730Met)	NC_000010.10:g.16990497G>A	(Likely) benign	1 lab	f3b8cd0328
2:179644961 TTN T>A	2	179644961	179644961	T	A	TTN	c.3524-29A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179644961T>A	(Likely) benign	1 lab	f3b98f0fac
5:127640695 FBN2 G>A	5	127640695	127640695	G	A	FBN2	c.5754C>T	NM_001999.3	NP_001990.2:p.(Ile1918=)	NC_000005.9:g.127640695G>A	(Likely) benign	1 lab	f3baccd81a
16:1636229 IFT140 TC>T	16	1636229	1636231	TC	T	IFT140	c.1056del	NM_014714.4	NP_055529.2:p.(Val354TyrfsTer42)	NC_000016.9:g.1636231del	(Likely) pathogenic	1 lab	f3bae4b090
12:53189801 KRT3 G>A	12	53189801	53189801	G	A	KRT3	c.26C>T	NM_057088.2	NP_476429.2:p.(Ser9Phe)	NC_000012.11:g.53189801G>A	(Likely) benign	1 lab	f3bb0a046e
7:107626696 LAMB1 G>T	7	107626696	107626696	G	T	LAMB1	c.536C>A	NM_002291.2	NP_002282.2:p.(Thr179Asn)	NC_000007.13:g.107626696G>T	VUS	1 lab	f3bd82dd30
17:48940760 TOB1 T>C	17	48940760	48940760	T	C	TOB1	c.619A>G	NM_005749.4	NP_005740.1:p.(Ile207Val)	NC_000017.10:g.48940760T>C	(Likely) benign	1 lab	f3c1967ca6
X:140785835 SPANXD C>T	X	140785835	140785835	C	T	SPANXD	c.81G>A	NM_032417.3	NP_115793.1:p.(Glu27=)	NC_000023.10:g.140785835C>T	(Likely) benign	1 lab	f3c32a290a
17:11645502 DNAH9 A>G	17	11645502	11645502	A	G	DNAH9	c.5983A>G	NM_001372.3	NP_001363.2:p.(Met1995Val)	NC_000017.10:g.11645502A>G	VUS	1 lab	f3c39828ee
X:137793091 MISSING G>A	X	137793091	137793091	G	A	MISSING				NC_000023.10:g.137793091G>A	(Likely) benign	1 lab	f3c4a0b796
16:2104346 TSC2 AT>A	16	2104346	2104348	AT	A	TSC2	c.388del	NM_000548.5	NP_000539.2:p.(Tyr130ThrfsTer52)	NC_000016.9:g.2104348del	(Likely) pathogenic	1 lab	f3c4a8676f
X:77528371 CYSLTR1 G>T	X	77528371	77528371	G	T	CYSLTR1	c.873C>A	NM_001282187.1	NP_001269116.1:p.(Asp291Glu)	NC_000023.10:g.77528371G>T	VUS	1 lab	f3c729effe
13:103515237 ERCC5 C>G	13	103515237	103515237	C	G	ERCC5	c.1738C>G	NM_000123.3	NP_000114.2:p.(Pro580Ala)	NC_000013.10:g.103515237C>G	(Likely) benign	1 lab	f3c7adf9bc
19:7524884 ARHGEF18 A>T	19	7524884	7524884	A	T	ARHGEF18	c.2452+4A>T	NM_001367823.1	NP_001354752.1:p.?	NC_000019.9:g.7524884A>T	VUS	1 lab	f3c930bdae
4:101947052 PPP3CA G>T	4	101947052	101947052	G	T	PPP3CA	c.1536C>A	NM_000944.5	NP_000935.1:p.(Ser512Arg)	NC_000004.11:g.101947052G>T	VUS	1 lab	f3c9dffdf5
2:43931149 PLEKHH2 A>G	2	43931149	43931149	A	G	PLEKHH2	c.1680A>G	NM_172069.4	NP_742066.2:p.(Ser560=)	NC_000002.11:g.43931149A>G	(Likely) benign	1 lab	f3ca74f44b
14:35477846 SRP54 A>T	14	35477846	35477846	A	T	SRP54	c.227A>T	NM_001146282.1	NP_001139754.1:p.(Tyr76Phe)	NC_000014.8:g.35477846A>T	(Likely) benign	1 lab	f3cae7d17a
6:76566810 MYO6 A>G	6	76566810	76566810	A	G	MYO6	c.1224-4A>G	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76566810A>G	(Likely) benign	1 lab	f3cc5c0d72
17:34091129 C17orf50 C>A	17	34091129	34091129	C	A	C17orf50	c.117C>A	NM_145272.4	NP_660315.2:p.(Asn39Lys)	NC_000017.10:g.34091129C>A	(Likely) benign	1 lab	f3cd52c66e
10:27406531 YME1L1 T>C	10	27406531	27406531	T	C	YME1L1	c.1864A>G	NM_139312.2	NP_647473.1:p.(Met622Val)	NC_000010.10:g.27406531T>C	VUS	1 lab	f3cef458ad
2:73800171 ALMS1 A>G	2	73800171	73800171	A	G	ALMS1	c.11170A>G	NM_015120.4	NP_055935.4:p.(Lys3724Glu)	NC_000002.11:g.73800171A>G	VUS	1 lab	f3cef92b2f
7:82595672 PCLO T>C	7	82595672	82595672	T	C	PCLO	c.3432A>G	NM_033026.5	NP_149015.2:p.(Ser1144=)	NC_000007.13:g.82595672T>C	(Likely) benign	1 lab	f3cf473a72
9:40703128 SPATA31A3 C>T	9	40703128	40703128	C	T	SPATA31A3	c.785C>T	NM_001083124.1	NP_001076593.1:p.(Ala262Val)	NC_000009.11:g.40703128C>T	VUS	1 lab	f3cf5a3dbe
11:2905255 CDKN1C G>T	11	2905255	2905255	G	T	CDKN1C	c.930C>A	NM_000076.2	NP_000067.1:p.(Thr310=)	NC_000011.9:g.2905255G>T	(Likely) benign	1 lab	f3d0919035
8:145000014 PLEC C>T	8	145000014	145000014	C	T	PLEC	c.4494G>A	NM_201380.3	NP_958782.1:p.(Arg1498=)	NC_000008.10:g.145000014C>T	(Likely) benign	1 lab	f3d1b83efb
X:114424930 RBMXL3 G>T	X	114424930	114424930	G	T	RBMXL3	c.926G>T	NM_001145346.1	NP_001138818.1:p.(Gly309Val)	NC_000023.10:g.114424930G>T	VUS	1 lab	f3d35fc081
17:2570430 PAFAH1B1 C>T	17	2570430	2570430	C	T	PAFAH1B1	c.337C>T	NM_000430.3	NP_000421.1:p.(Arg113Ter)	NC_000017.10:g.2570430C>T	(Likely) pathogenic	1 lab	f3d37d63d6
X:149671601 MAMLD1 G>A	X	149671601	149671601	G	A	MAMLD1	c.2098G>A	NM_005491.4	NP_005482.2:p.(Gly700Arg)	NC_000023.10:g.149671601G>A	VUS	1 lab	f3d3c1c8cb
19:1467984 APC2 G>A	19	1467984	1467984	G	A	APC2	c.4684G>A	NM_005883.2	NP_005874.1:p.(Ala1562Thr)	NC_000019.9:g.1467984G>A	(Likely) benign	1 lab	f3d6939eda
7:2954962 CARD11 G>A	7	2954962	2954962	G	A	CARD11	c.2748C>T	NM_001324281.1	NP_001311210.1:p.(Asn916=)	NC_000007.13:g.2954962G>A	(Likely) benign	1 lab	f3d909e7f5
22:40814545 MRTFA C>T	22	40814545	40814545	C	T	MRTFA				NC_000022.10:g.40814545C>T	(Likely) benign	1 lab	f3d9b507a1
16:2138662 TSC2 GAAAT>G	16	2138662	2138673	GAAAT	G	TSC2	c.*59_*62del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138670_2138673del	(Likely) benign	1 lab	f3dac624d9
X:7812048 VCX G>C	X	7812048	7812048	G	C	VCX	c.612G>C	NM_013452.2	NP_038480.2:p.(Pro204=)	NC_000023.10:g.7812048G>C	(Likely) benign	1 lab	f3db94bddd
4:151357876 LRBA T>C	4	151357876	151357876	T	C	LRBA	c.6921A>G	NM_001199282.2	NP_001186211.2:p.(Ile2307Met)	NC_000004.11:g.151357876T>C	VUS	1 lab	f3dc9ea99c
13:103392203 LRTM3 CTA>C	13	103392203	103392206	CTA	C	LRTM3	c.10842_10843del	NM_001146197.3	NP_001139669.1:p.(His3614GlnfsTer4)	NC_000013.10:g.103392205_103392206del	VUS	1 lab	f3dd249387
18:55240455 FECH T>C	18	55240455	55240455	T	C	FECH				NC_000018.9:g.55240455T>C	(Likely) benign	1 lab	f3dd41574f
11:111914202 DLAT A>G	11	111914202	111914202	A	G	DLAT	c.1142A>G	NM_001931.4	NP_001922.2:p.(Asp381Gly)	NC_000011.9:g.111914202A>G	(Likely) benign	1 lab	f3de1acc0b
X:63445411 ASB12 A>T	X	63445411	63445411	A	T	ASB12	c.120T>A	NM_130388.3	NP_569059.3:p.(Asn40Lys)	NC_000023.10:g.63445411A>T	VUS	1 lab	f3dfbf5c4e
12:116534503 MED13L G>A	12	116534503	116534503	G	A	MED13L	c.450C>T	NM_015335.4	NP_056150.1:p.(Tyr150=)	NC_000012.11:g.116534503G>A	(Likely) benign	1 lab	f3e11c9ac6
1:3328116 PRDM16 C>T	1	3328116	3328116	C	T	PRDM16	c.1355C>T	NM_022114.3	NP_071397.3:p.(Thr452Met)	NC_000001.10:g.3328116C>T	(Likely) benign	1 lab	f3e2a9076b
11:76883864 MYO7A G>A	11	76883864	76883864	G	A	MYO7A	c.1868G>A	NM_000260.3	NP_000251.3:p.(Arg623His)	NC_000011.9:g.76883864G>A	(Likely) benign	1 lab	f3e38c7ff8
2:192711239 CAVIN2 T>C	2	192711239	192711239	T	C	CAVIN2	c.413A>G	NM_004657.6	NP_004648.1:p.(Gln138Arg)	NC_000002.11:g.192711239T>C	VUS	1 lab	f3e491cd67
9:140058213 GRIN1 G>A	9	140058213	140058213	G	A	GRIN1	c.2446G>A	NM_007327.3	NP_015566.1:p.(Val816Ile)	NC_000009.11:g.140058213G>A	VUS	1 lab	f3e4d27089
10:123256215 FGFR2 T>C	10	123256215	123256215	T	C	FGFR2	c.1694A>G	NM_000141.4	NP_000132.3:p.(Glu565Gly)	NC_000010.10:g.123256215T>C	(Likely) pathogenic	1 lab	f3e5d0e241
18:8784834 MTCL1 A>G	18	8784834	8784834	A	G	MTCL1	c.1724A>G	NM_015210.3	NP_056025.2:p.(Asp575Gly)	NC_000018.9:g.8784834A>G	VUS	1 lab	f3e77f008c
16:68771347 CDH1 C>CGCTGCT	16	68771347	68771364	C	CGCTGCT	CDH1	c.41_46dup	NM_004360.3	NP_004351.1:p.(Leu14_Leu15dup)	NC_000016.9:g.68771359_68771364dup	(Likely) benign	1 lab	f3e883aa3f
X:135825834 ARHGEF6 G>A	X	135825834	135825834	G	A	ARHGEF6	c.571C>T	NM_004840.2	NP_004831.1:p.(Arg191Ter)	NC_000023.10:g.135825834G>A	VUS	1 lab	f3e8fbee0a
17:29585451 NF1 G>GT	17	29585451	29585452	G	GT	NF1	c.4201dup	NM_000267.3	NP_000258.1:p.(Tyr1401LeufsTer2)	NC_000017.10:g.29585452dup	(Likely) pathogenic	1 lab	f3ed842a06
19:46269791 SIX5 G>A	19	46269791	46269791	G	A	SIX5	c.1426C>T	NM_175875.4	NP_787071.2:p.(Pro476Ser)	NC_000019.9:g.46269791G>A	VUS	1 lab	f3ee228314
X:28807521 IL1RAPL1 G>T	X	28807521	28807521	G	T	IL1RAPL1	c.61G>T	NM_014271.3	NP_055086.1:p.(Val21Phe)	NC_000023.10:g.28807521G>T	VUS	1 lab	f3ef8c37f1
10:17142163 CUBN C>T	10	17142163	17142163	C	T	CUBN	c.1606G>A	NM_001081.3	NP_001072.2:p.(Asp536Asn)	NC_000010.10:g.17142163C>T	VUS	1 lab	f3f1023313
17:1639389 WDR81 C>T	17	1639389	1639389	C	T	WDR81	c.5382C>T	NM_001163809.1	NP_001157281.1:p.(Ile1794=)	NC_000017.10:g.1639389C>T	(Likely) benign	1 lab	f3f12875ec
7:94049927 COL1A2 T>C	7	94049927	94049927	T	C	COL1A2	c.2262T>C	NM_000089.3	NP_000080.2:p.(Gly754=)	NC_000007.13:g.94049927T>C	(Likely) benign	1 lab	f3f1fe7943
15:62302757 VPS13C G>C	15	62302757	62302757	G	C	VPS13C	c.925C>G	NM_001018088.2	NP_001018098.1:p.(Pro309Ala)	NC_000015.9:g.62302757G>C	VUS	1 lab	f3f2cc355a
6:32826267 PSMB9 C>T	6	32826267	32826267	C	T	PSMB9	c.517C>T	NM_002800.5	NP_002791.1:p.(Arg173Cys)	NC_000006.11:g.32826267C>T	VUS	1 lab	f3f2e278d2
11:133939021 JAM3 C>G	11	133939021	133939021	C	G	JAM3	c.43C>G	NM_032801.4	NP_116190.3:p.(Leu15Val)	NC_000011.9:g.133939021C>G	(Likely) benign	1 lab	f3f5c189de
6:42935284 PEX6 A>G	6	42935284	42935284	A	G	PEX6	c.1706T>C	NM_000287.3	NP_000278.3:p.(Val569Ala)	NC_000006.11:g.42935284A>G	VUS	1 lab	f3f68d0404
20:62197219 HELZ2 C>T	20	62197219	62197219	C	T	HELZ2	c.2956G>A	NM_001037335.2	NP_001032412.2:p.(Glu986Lys)	NC_000020.10:g.62197219C>T	(Likely) benign	1 lab	f3f6cc636c
7:117359664 CTTNBP2 G>A	7	117359664	117359664	G	A	CTTNBP2	c.4538C>T	NM_033427.2	NP_219499.1:p.(Thr1513Met)	NC_000007.13:g.117359664G>A	(Likely) benign	1 lab	f3fb606aab
20:34092315 CEP250 C>G	20	34092315	34092315	C	G	CEP250	c.6118C>G	NM_007186.5	NP_009117.2:p.(Leu2040Val)	NC_000020.10:g.34092315C>G	VUS	1 lab	f3fce773f1
19:13470566 CACNA1A C>T	19	13470566	13470566	C	T	CACNA1A	c.832G>A	NM_023035.2	NP_075461.2:p.(Ala278Thr)	NC_000019.9:g.13470566C>T	VUS	1 lab	f3fd7d9b02
13:32912528 BRCA2 ACT>A	13	32912528	32912530	ACT	A	BRCA2	c.4037_4038del	NM_000059.4	NP_000050.3:p.(Thr1346SerfsTer5)	NC_000013.10:g.32912529_32912530del	(Likely) pathogenic	1 lab	f3fdb0ecce
18:29126229 DSG2 C>A	18	29126229	29126229	C	A	DSG2	c.2880C>A	NM_001943.3	NP_001934.2:p.(Ser960Arg)	NC_000018.9:g.29126229C>A	(Likely) benign	1 lab	f3fe3c2232
11:2906292 CDKN1C G>T	11	2906292	2906292	G	T	CDKN1C	c.428C>A	NM_000076.2	NP_000067.1:p.(Ala143Asp)	NC_000011.9:g.2906292G>T	VUS	1 lab	f3fea31469
3:195509964 MUC4 A>C	3	195509964	195509964	A	C	MUC4	c.8487T>G	NM_018406.6	NP_060876.5:p.(His2829Gln)	NC_000003.11:g.195509964A>C	VUS	1 lab	f40288df3e
1:196973970 CFHR5 CT>C	1	196973970	196973971	CT	C	CFHR5	c.1511del	NM_030787.4	NP_110414.1:p.(Leu504GlnfsTer11)	NC_000001.10:g.196973971del	VUS	1 lab	f40381c10d
X:78426850 GPR174 C>T	X	78426850	78426850	C	T	GPR174	c.346C>T	NM_032553.2	NP_115942.1:p.(Arg116Ter)	NC_000023.10:g.78426850C>T	(Likely) benign	1 lab	f4054abb08
3:124431805 KALRN A>G	3	124431805	124431805	A	G	KALRN	c.8099A>G	NM_001024660.4	NP_001019831.2:p.(Lys2700Arg)	NC_000003.11:g.124431805A>G	VUS	1 lab	f405579b48
7:23213740 KLHL7 T>C	7	23213740	23213740	T	C	KLHL7	c.1440T>C	NM_018846.4	NP_061334.4:p.(Ser480=)	NC_000007.13:g.23213740T>C	(Likely) benign	1 lab	f40746b666
1:196659308 CFH G>A	1	196659308	196659308	G	A	CFH	c.1275G>A	NM_000186.3	NP_000177.2:p.(Ala425=)	NC_000001.10:g.196659308G>A	(Likely) benign	1 lab	f407518738
2:73114659 SPR C>T	2	73114659	73114659	C	T	SPR	c.98C>T	NM_003124.4	NP_003115.1:p.(Pro33Leu)	NC_000002.11:g.73114659C>T	VUS	1 lab	f408f8c4d6
X:77380861 PGK1 C>T	X	77380861	77380861	C	T	PGK1	c.1152C>T	NM_000291.3	NP_000282.1:p.(Asn384=)	NC_000023.10:g.77380861C>T	(Likely) benign	1 lab	f40a2d9be6
5:2748507 IRX2 G>T	5	2748507	2748507	G	T	IRX2	c.1315C>A	NM_033267.5	NP_150366.1:p.(Leu439Ile)	NC_000005.9:g.2748507G>T	(Likely) benign	1 lab	f40acad299
X:100646010 RPL36A C>T	X	100646010	100646010	C	T	RPL36A	c.87C>T	NM_021029.5	NP_066357.2:p.(Arg29=)	NC_000023.10:g.100646010C>T	(Likely) benign	1 lab	f40c2a2076
1:28800271 PHACTR4 G>A	1	28800271	28800271	G	A	PHACTR4	c.1029G>A	NM_001048183.3	NP_001041648.1:p.(Pro343=)	NC_000001.10:g.28800271G>A	(Likely) benign	1 lab	f40c6a2112
X:41060377 USP9X C>T	X	41060377	41060377	C	T	USP9X	c.4668C>T	NM_001039591.3	NP_001034680.2:p.(Phe1556=)	NC_000023.10:g.41060377C>T	(Likely) benign	1 lab	f40e25993d
12:1995149 CACNA2D4 C>T	12	1995149	1995149	C	T	CACNA2D4	c.1050G>A	NM_172364.4	NP_758952.4:p.(Ala350=)	NC_000012.11:g.1995149C>T	(Likely) benign	1 lab	f40f9310e6
1:6504691 ESPN G>C	1	6504691	6504691	G	C	ESPN	c.1141G>C	NM_031475.3	NP_113663.2:p.(Asp381His)	NC_000001.10:g.6504691G>C	VUS	1 lab	f41114c174
1:151584759 SNX27 C>T	1	151584759	151584759	C	T	SNX27	c.82C>T	NM_030918.5	NP_112180.4:p.(Leu28Phe)	NC_000001.10:g.151584759C>T	(Likely) benign	1 lab	f4115428df
17:79427936 MISSING G>A	17	79427936	79427936	G	A	MISSING				NC_000017.10:g.79427936G>A	(Likely) benign	1 lab	f41205bcb9
11:1255068 MUC5B G>C	11	1255068	1255068	G	C	MUC5B	c.2367G>C	NM_002458.2	NP_002449.2:p.(Gln789His)	NC_000011.9:g.1255068G>C	(Likely) benign	1 lab	f4126d0e86
13:39425177 FREM2 A>G	13	39425177	39425177	A	G	FREM2	c.6674A>G	NM_207361.5	NP_997244.4:p.(Asn2225Ser)	NC_000013.10:g.39425177A>G	(Likely) benign	1 lab	f413bbb18b
1:183102616 LAMC1 C>G	1	183102616	183102616	C	G	LAMC1	c.3780C>G	NM_002293.3	NP_002284.3:p.(Ala1260=)	NC_000001.10:g.183102616C>G	(Likely) benign	1 lab	f415497aea
4:3213818 HTT G>A	4	3213818	3213818	G	A	HTT	c.6583G>A	NM_002111.8	NP_002102.4:p.(Glu2195Lys)	NC_000004.11:g.3213818G>A	(Likely) benign	1 lab	f4156e7299
1:235875386 LYST T>C	1	235875386	235875386	T	C	LYST	c.9896A>G	NM_001301365.1	NP_001288294.1:p.(Tyr3299Cys)	NC_000001.10:g.235875386T>C	VUS	1 lab	f417810910
17:78157932 CARD14 G>A	17	78157932	78157932	G	A	CARD14	c.570G>A	NM_024110.4	NP_077015.2:p.(Glu190=)	NC_000017.10:g.78157932G>A	(Likely) benign	1 lab	f4178cc73d
5:147480011 SPINK5 C>T	5	147480011	147480011	C	T	SPINK5	c.1093-6C>T	NM_001127698.1	NP_001121170.1:p.?	NC_000005.9:g.147480011C>T	(Likely) benign	1 lab	f4181f243f
15:51242042 AP4E1 T>C	15	51242042	51242042	T	C	AP4E1	c.1336T>C	NM_007347.4	NP_031373.2:p.(Trp446Arg)	NC_000015.9:g.51242042T>C	VUS	1 lab	f4187ca071
1:160011922 KCNJ10 C>T	1	160011922	160011922	C	T	KCNJ10	c.401G>A	NM_002241.4	NP_002232.2:p.(Arg134His)	NC_000001.10:g.160011922C>T	VUS	1 lab	f41899ee46
X:71495461 RPS4X G>A	X	71495461	71495461	G	A	RPS4X	c.195C>T	NM_001007.4	NP_000998.1:p.(Cys65=)	NC_000023.10:g.71495461G>A	(Likely) benign	1 lab	f41be40ed5
11:429649 ANO9 G>A	11	429649	429649	G	A	ANO9	c.836C>T	NM_001012302.2	NP_001012302.2:p.(Thr279Met)	NC_000011.9:g.429649G>A	VUS	1 lab	f41e309cb6
20:52790082 CYP24A1 C>T	20	52790082	52790082	C	T	CYP24A1	c.37G>A	NM_000782.4	NP_000773.2:p.(Ala13Thr)	NC_000020.10:g.52790082C>T	(Likely) benign	1 lab	f41ec4e9ee
15:28360659 HERC2 G>A	15	28360659	28360659	G	A	HERC2	c.13638C>T	NM_004667.5	NP_004658.3:p.(Thr4546=)	NC_000015.9:g.28360659G>A	(Likely) benign	1 lab	f41f7fe5cb
16:27751669 KATNIP C>A	16	27751669	27751669	C	A	KATNIP	c.2051C>A	NM_015202.3	NP_056017.3:p.(Ser684Tyr)	NC_000016.9:g.27751669C>A	VUS	1 lab	f41f9153ce
20:61050154 GATA5 A>G	20	61050154	61050154	A	G	GATA5	c.424T>C	NM_080473.4	NP_536721.1:p.(Tyr142His)	NC_000020.10:g.61050154A>G	VUS	1 lab	f42126ca7b
X:48651712 GATA1 C>T	X	48651712	48651712	C	T	GATA1	c.870+8C>T	NM_002049.3	NP_002040.1:p.?	NC_000023.10:g.48651712C>T	(Likely) benign	1 lab	f4218c9341
11:61537875 MYRF C>T	11	61537875	61537875	C	T	MYRF	c.618C>T	NM_001127392.2	NP_001120864.1:p.(Tyr206=)	NC_000011.9:g.61537875C>T	(Likely) benign	1 lab	f421bb62bd
3:129294656 PLXND1 C>T	3	129294656	129294656	C	T	PLXND1	c.2389G>A	NM_015103.2	NP_055918.2:p.(Glu797Lys)	NC_000003.11:g.129294656C>T	VUS	1 lab	f4242b156c
5:149630292 CAMK2A G>A	5	149630292	149630292	G	A	CAMK2A	c.775C>T	NM_001363989.1	NP_001350918.1:p.(Arg259Cys)	NC_000005.9:g.149630292G>A	VUS	1 lab	f4258ff2da
5:32712831 NPR3 C>T	5	32712831	32712831	C	T	NPR3	c.769+180C>T	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32712831C>T	(Likely) benign	1 lab	f4276d20e4
10:75849950 VCL G>A	10	75849950	75849950	G	A	VCL	c.1346G>A	NM_014000.2	NP_054706.1:p.(Arg449Gln)	NC_000010.10:g.75849950G>A	VUS	1 lab	f4288e2e28
9:14823225 FREM1 T>C	9	14823225	14823225	T	C	FREM1	c.2270A>G	NM_144966.5	NP_659403.4:p.(His757Arg)	NC_000009.11:g.14823225T>C	VUS	1 lab	f428a0aa6c
2:152529122 NEB T>C	2	152529122	152529122	T	C	NEB	c.4060A>G	NM_001271208.1	NP_001258137.1:p.(Lys1354Glu)	NC_000002.11:g.152529122T>C	(Likely) benign	1 lab	f429124251
16:90106788 DRC4 C>T	16	90106788	90106788	C	T	DRC4	c.843C>T	NM_001286205.1	NP_001273134.1:p.(Asn281=)	NC_000016.9:g.90106788C>T	(Likely) benign	1 lab	f4299d02a3
1:152286086 FLG C>T	1	152286086	152286086	C	T	FLG	c.1276G>A	NM_002016.1	NP_002007.1:p.(Glu426Lys)	NC_000001.10:g.152286086C>T	VUS	1 lab	f42c05bebe
5:7883266 MTRR A>T	5	7883266	7883266	A	T	MTRR	c.781-2A>T	NM_001364440.1	NP_001351369.1:p.?	NC_000005.9:g.7883266A>T	(Likely) pathogenic	1 lab	f42edaef04
17:78086713 GAA G>A	17	78086713	78086713	G	A	GAA	c.1927G>A	NM_000152.3	NP_000143.2:p.(Gly643Arg)	NC_000017.10:g.78086713G>A	(Likely) pathogenic	1 lab	f42f6c5e81
16:15814828 MYH11 G>A	16	15814828	15814828	G	A	MYH11	c.4680C>T	NM_001040113.1	NP_001035202.1:p.(Asp1560=)	NC_000016.9:g.15814828G>A	(Likely) benign	1 lab	f432f01224
15:45427369 DUOX1 T>C	15	45427369	45427369	T	C	DUOX1	c.375T>C	NM_017434.4	NP_059130.2:p.(Ile125=)	NC_000015.9:g.45427369T>C	(Likely) benign	1 lab	f4330556fd
4:26432497 RBPJ A>G	4	26432497	26432497	A	G	RBPJ	c.1329A>G	NM_203284.2	NP_976029.1:p.(Ala443=)	NC_000004.11:g.26432497A>G	(Likely) benign	1 lab	f433591f0c
6:42231057 TRERF1 C>T	6	42231057	42231057	C	T	TRERF1	c.1884+1G>A	NM_033502.3	NP_277037.1:p.?	NC_000006.11:g.42231057C>T	VUS	1 lab	f4336130f0
7:94030870 COL1A2 C>T	7	94030870	94030870	C	T	COL1A2	c.226-9C>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94030870C>T	(Likely) benign	1 lab	f433d5cd9b
5:149576322 SLC6A7 C>G	5	149576322	149576322	C	G	SLC6A7	c.261C>G	NM_014228.5	NP_055043.2:p.(Gly87=)	NC_000005.9:g.149576322C>G	(Likely) benign	1 lab	f433ddff89
11:76834905 CAPN5 A>G	11	76834905	76834905	A	G	CAPN5	c.1912A>G	NM_004055.4	NP_004046.2:p.(Met638Val)	NC_000011.9:g.76834905A>G	(Likely) benign	1 lab	f434163869
X:66931370 AR A>AGCCCATCTTTCTGAATGTCC	X	66931370	66931390	A	AGCCCATCTTTCTGAATGTCC	AR	c.2013_2032dup	NM_000044.4	NP_000035.2:p.(Leu678ArgfsTer5)	NC_000023.10:g.66931371_66931390dup	(Likely) pathogenic	1 lab	f4342de3a8
19:46268891 SIX5 C>T	19	46268891	46268891	C	T	SIX5	c.2088G>A	NM_175875.4	NP_787071.2:p.(Leu696=)	NC_000019.9:g.46268891C>T	(Likely) benign	1 lab	f434942a31
20:49575033 DPM1 G>T	20	49575033	49575033	G	T	DPM1	c.28C>A	NM_001317034.1	NP_001303963.1:p.(Pro10Thr)	NC_000020.10:g.49575033G>T	(Likely) benign	1 lab	f4349c08dc
1:1271606 DVL1 G>A	1	1271606	1271606	G	A	DVL1	c.2004C>T	NM_001330311.2	NP_001317240.1:p.(Ala668=)	NC_000001.10:g.1271606G>A	(Likely) benign	1 lab	f43573395a
1:215848154 USH2A C>T	1	215848154	215848154	C	T	USH2A	c.13099G>A	NM_206933.2	NP_996816.2:p.(Val4367Ile)	NC_000001.10:g.215848154C>T	(Likely) benign	1 lab	f437d8bb88
1:202917504 ADIPOR1 C>T	1	202917504	202917504	C	T	ADIPOR1	c.186G>A	NM_001290557.1	NP_001277486.1:p.(Glu62=)	NC_000001.10:g.202917504C>T	(Likely) benign	1 lab	f437e7b741
X:105189958 NRK T>C	X	105189958	105189958	T	C	NRK	c.4154T>C	NM_198465.3	NP_940867.2:p.(Val1385Ala)	NC_000023.10:g.105189958T>C	(Likely) benign	1 lab	f4392ba345
12:13761616 GRIN2B GC>G	12	13761616	13761618	GC	G	GRIN2B	c.1930del	NM_000834.5	NP_000825.2:p.(Ala644ProfsTer7)	NC_000012.11:g.13761618del	(Likely) pathogenic	1 lab	f43a638b4d
11:76886472 MYO7A G>A	11	76886472	76886472	G	A	MYO7A	c.2149G>A	NM_000260.3	NP_000251.3:p.(Asp717Asn)	NC_000011.9:g.76886472G>A	VUS	1 lab	f43f13c641
2:111425285 BUB1 A>G	2	111425285	111425285	A	G	BUB1	c.621-3T>C	NM_004336.4	NP_004327.1:p.?	NC_000002.11:g.111425285A>G	(Likely) benign	1 lab	f43f23882a
9:117783543 TNC C>T	9	117783543	117783543	C	T	TNC	c.6499G>A	NM_002160.3	NP_002151.2:p.(Val2167Ile)	NC_000009.11:g.117783543C>T	(Likely) benign	1 lab	f43f611960
16:70891771 HYDIN G>A	16	70891771	70891771	G	A	HYDIN	c.12132C>T	NM_001270974.2	NP_001257903.1:p.(Ile4044=)	NC_000016.9:g.70891771G>A	(Likely) benign	1 lab	f440deb86e
1:6485210 ESPN C>G	1	6485210	6485210	C	G	ESPN	c.195C>G	NM_031475.3	NP_113663.2:p.(Ala65=)	NC_000001.10:g.6485210C>G	(Likely) benign	1 lab	f44173dfd5
16:2131734 TSC2 AC>A	16	2131734	2131735	AC	A	TSC2	c.3750del	NM_000548.5	NP_000539.2:p.(Tyr1250Ter)	NC_000016.9:g.2131735del	(Likely) pathogenic	1 lab	f441ba318f
13:103527837 ERCC5 G>A	13	103527837	103527837	G	A	ERCC5	c.3145G>A	NM_000123.3	NP_000114.2:p.(Asp1049Asn)	NC_000013.10:g.103527837G>A	(Likely) benign	1 lab	f441cd2f37
7:141351414 AGK G>A	7	141351414	141351414	G	A	AGK	c.1131+5G>A	NM_018238.4	NP_060708.1:p.?	NC_000007.13:g.141351414G>A	VUS	1 lab	f44277e425
4:6303535 WFS1 G>A	4	6303535	6303535	G	A	WFS1	c.2013G>A	NM_006005.3	NP_005996.2:p.(Ala671=)	NC_000004.11:g.6303535G>A	(Likely) benign	1 lab	f4430e5ea4
5:140905704 DIAPH1 C>A	5	140905704	140905704	C	A	DIAPH1	c.3475G>T	NM_001314007.1	NP_001300936.1:p.(Glu1159Ter)	NC_000005.9:g.140905704C>A	VUS	1 lab	f445fc2efb
1:40767533 COL9A2 T>C	1	40767533	40767533	T	C	COL9A2	c.1821A>G	NM_001852.4	NP_001843.1:p.(Gly607=)	NC_000001.10:g.40767533T>C	(Likely) benign	1 lab	f446cee813
12:56845252 MIP G>A	12	56845252	56845252	G	A	MIP	c.607-3C>T	NM_012064.4	NP_036196.1:p.?	NC_000012.11:g.56845252G>A	(Likely) benign	1 lab	f4498b52e4
6:121526264 TBC1D32 G>A	6	121526264	121526264	G	A	TBC1D32	c.2527C>T	NM_001367759.1	NP_001354688.1:p.(Arg843Cys)	NC_000006.11:g.121526264G>A	VUS	1 lab	f44ad5625b
11:3846291 PGAP2 C>T	11	3846291	3846291	C	T	PGAP2	c.817C>T	NM_001256237.1	NP_001243166.1:p.(Gln273Ter)	NC_000011.9:g.3846291C>T	VUS	1 lab	f44b8dce6f
5:131302124 ACSL6 G>A	5	131302124	131302124	G	A	ACSL6	c.1698C>T	NM_001009185.2	NP_001009185.1:p.(Ile566=)	NC_000005.9:g.131302124G>A	(Likely) benign	1 lab	f44e6515c5
15:23889977 MAGEL2 C>T	15	23889977	23889977	C	T	MAGEL2	c.2913G>A	NM_019066.4	NP_061939.3:p.(Glu971=)	NC_000015.9:g.23889977C>T	(Likely) benign	1 lab	f44f60ebd7
11:614786 IRF7 G>GC	11	614786	614787	G	GC	IRF7	c.433+10dup	NM_004031.3	NP_004022.2:p.?	NC_000011.9:g.614787dup	(Likely) benign	1 lab	f450292eb7
9:103046760 INVS A>G	9	103046760	103046760	A	G	INVS	c.1655A>G	NM_001318381.1	NP_001305310.1:p.(Asn552Ser)	NC_000009.11:g.103046760A>G	(Likely) benign	1 lab	f451ea3813
15:90172658 KIF7 C>T	15	90172658	90172658	C	T	KIF7	c.3465G>A	NM_198525.2	NP_940927.2:p.(Leu1155=)	NC_000015.9:g.90172658C>T	(Likely) benign	1 lab	f452e758cd
12:124172706 TCTN2 A>G	12	124172706	124172706	A	G	TCTN2	c.873A>G	NM_024809.4	NP_079085.2:p.(Ala291=)	NC_000012.11:g.124172706A>G	(Likely) benign	1 lab	f4553015e8
8:48697675 PRKDC G>C	8	48697675	48697675	G	C	PRKDC	c.11106C>G	NM_001081640.1	NP_001075109.1:p.(Pro3702=)	NC_000008.10:g.48697675G>C	(Likely) benign	1 lab	f456d065d8
19:36594288 WDR62 C>T	19	36594288	36594288	C	T	WDR62	c.3558C>T	NM_001083961.1	NP_001077430.1:p.(Ser1186=)	NC_000019.9:g.36594288C>T	(Likely) benign	1 lab	f456f7f0f2
2:198359436 HSPD1 T>C	2	198359436	198359436	T	C	HSPD1	c.551A>G	NM_002156.5	NP_002147.2:p.(Asn184Ser)	NC_000002.11:g.198359436T>C	VUS	1 lab	f4585f78f4
22:21174144 PI4KA G>A	22	21174144	21174144	G	A	PI4KA	c.574C>T	NM_058004.3	NP_477352.3:p.(Arg192Ter)	NC_000022.10:g.21174144G>A	(Likely) pathogenic	1 lab	f458e8aafb
22:38531001 PLA2G6 G>A	22	38531001	38531001	G	A	PLA2G6	c.354C>T	NM_001349867.1	NP_001336796.1:p.(Asn118=)	NC_000022.10:g.38531001G>A	(Likely) benign	1 lab	f4594ccb3f
9:98997910 HSD17B3 ATCTTTGTGG>A	9	98997910	98997924	ATCTTTGTGG	A	HSD17B3	c.823-67_823-59del	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.98997916_98997924del	(Likely) benign	1 lab	f459d69413
10:55719513 PCDH15 C>T	10	55719513	55719513	C	T	PCDH15	c.3101G>A	NM_001354429.1	NP_001341358.1:p.(Arg1034His)	NC_000010.10:g.55719513C>T	VUS	1 lab	f45b199354
14:91666162 DGLUCY G>T	14	91666162	91666162	G	T	DGLUCY	c.1357G>T	NM_001286470.1	NP_001273399.1:p.(Ala453Ser)	NC_000014.8:g.91666162G>T	VUS	1 lab	f45bbaceb4
6:152673214 SYNE1 T>C	6	152673214	152673214	T	C	SYNE1	c.11528A>G	NM_182961.3	NP_892006.3:p.(Glu3843Gly)	NC_000006.11:g.152673214T>C	VUS	1 lab	f45c315e8b
11:73817537 C2CD3 G>T	11	73817537	73817537	G	T	C2CD3	c.1964C>A	NM_001286577.1	NP_001273506.1:p.(Pro655Gln)	NC_000011.9:g.73817537G>T	VUS	1 lab	f45d5cd990
11:1265025 MUC5B C>A	11	1265025	1265025	C	A	MUC5B	c.6915C>A	NM_002458.2	NP_002449.2:p.(Pro2305=)	NC_000011.9:g.1265025C>A	(Likely) benign	1 lab	f45dcaf0d6
1:236192908 NID1 C>T	1	236192908	236192908	C	T	NID1	c.1680G>A	NM_002508.2	NP_002499.2:p.(Pro560=)	NC_000001.10:g.236192908C>T	(Likely) benign	1 lab	f45e372b7f
1:200572470 KIF14 CTGCA>C	1	200572470	200572478	CTGCA	C	KIF14	c.1864-5_1864-2del	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200572475_200572478del	(Likely) benign	1 lab	f45fa8c75d
15:33023416 GREM1 G>C	15	33023416	33023416	G	C	GREM1	c.525G>C	NM_013372.7	NP_037504.1:p.(Gln175His)	NC_000015.9:g.33023416G>C	VUS	1 lab	f45fe6c1f9
X:50378342 SHROOM4 T>C	X	50378342	50378342	T	C	SHROOM4	c.731A>G	NM_020717.3	NP_065768.2:p.(Asn244Ser)	NC_000023.10:g.50378342T>C	(Likely) benign	1 lab	f460455456
2:170131739 LRP2 T>C	2	170131739	170131739	T	C	LRP2	c.1782A>G	NM_004525.3	NP_004516.2:p.(Val594=)	NC_000002.11:g.170131739T>C	(Likely) benign	1 lab	f46096673c
16:57937839 CNGB1 C>T	16	57937839	57937839	C	T	CNGB1	c.2681G>A	NM_001297.4	NP_001288.3:p.(Arg894His)	NC_000016.9:g.57937839C>T	VUS	1 lab	f46187bd9c
11:6646537 DCHS1 C>A	11	6646537	6646537	C	A	DCHS1				NC_000011.9:g.6646537C>A	VUS	1 lab	f4632d3249
X:23956695 CXorf58 C>T	X	23956695	23956695	C	T	CXorf58	c.817C>T	NM_152761.2	NP_689974.2:p.(Arg273Trp)	NC_000023.10:g.23956695C>T	VUS	1 lab	f463954583
15:72460146 GRAMD2A G>T	15	72460146	72460146	G	T	GRAMD2A	c.303C>A	NM_001012642.3	NP_001012660.1:p.(Leu101=)	NC_000015.9:g.72460146G>T	(Likely) benign	1 lab	f464e6afeb
8:18658821 PSD3 T>C	8	18658821	18658821	T	C	PSD3	c.1883A>G	NM_001362819.1	NP_001349748.1:p.(Asn628Ser)	NC_000008.10:g.18658821T>C	(Likely) benign	1 lab	f466e6ee2f
19:39019695 RYR1 G>T	19	39019695	39019695	G	T	RYR1	c.11139G>T	NM_000540.2	NP_000531.2:p.(Lys3713Asn)	NC_000019.9:g.39019695G>T	VUS	1 lab	f4682e9aa8
12:48539352 PFKM G>A	12	48539352	48539352	G	A	PFKM	c.2417G>A	NM_001166686.2	NP_001160158.1:p.(Arg806Gln)	NC_000012.11:g.48539352G>A	VUS	1 lab	f46b900d0e
10:17110657 CUBN C>G	10	17110657	17110657	C	G	CUBN	c.2738G>C	NM_001081.3	NP_001072.2:p.(Ser913Thr)	NC_000010.10:g.17110657C>G	VUS	1 lab	f46ca8b5eb
11:17537819 USH1C C>T	11	17537819	17537819	C	T	USH1C	c.1229G>A	NM_153676.3	NP_710142.1:p.(Arg410His)	NC_000011.9:g.17537819C>T	VUS	1 lab	f46cb2baa1
17:38859390 KRT24 C>T	17	38859390	38859390	C	T	KRT24	c.556G>A	NM_019016.2	NP_061889.2:p.(Gly186Ser)	NC_000017.10:g.38859390C>T	VUS	1 lab	f46f1e6ee4
22:28192982 MN1 C>G	22	28192982	28192982	C	G	MN1	c.3550G>C	NM_002430.2	NP_002421.3:p.(Glu1184Gln)	NC_000022.10:g.28192982C>G	(Likely) benign	1 lab	f47504b646
12:21350049 SLCO1B1 G>A	12	21350049	21350049	G	A	SLCO1B1	c.897G>A	NM_006446.4	NP_006437.3:p.(Leu299=)	NC_000012.11:g.21350049G>A	(Likely) benign	1 lab	f476b1c00c
1:156262877 GLMP C>T	1	156262877	156262877	C	T	GLMP	c.922G>A	NM_001256608.1	NP_001243537.1:p.(Ala308Thr)	NC_000001.10:g.156262877C>T	(Likely) benign	1 lab	f476b5b85c
16:70977778 HYDIN G>A	16	70977778	70977778	G	A	HYDIN	c.6606C>T	NM_001270974.2	NP_001257903.1:p.(Thr2202=)	NC_000016.9:g.70977778G>A	(Likely) benign	1 lab	f4786bfcde
1:983435 AGRN T>A	1	983435	983435	T	A	AGRN	c.3480T>A	NM_001364727.1	NP_001351656.1:p.(Ile1160=)	NC_000001.10:g.983435T>A	(Likely) benign	1 lab	f479334a85
17:6528090 KIAA0753 G>A	17	6528090	6528090	G	A	KIAA0753	c.810C>T	NM_014804.2	NP_055619.2:p.(Tyr270=)	NC_000017.10:g.6528090G>A	(Likely) benign	1 lab	f47c74aa6e
2:170034496 LRP2 C>T	2	170034496	170034496	C	T	LRP2	c.10210G>A	NM_004525.3	NP_004516.2:p.(Asp3404Asn)	NC_000002.11:g.170034496C>T	VUS	1 lab	f47cbee86b
9:35735109 CREB3 G>C	9	35735109	35735109	G	C	CREB3	c.439G>C	NM_006368.4	NP_006359.3:p.(Glu147Gln)	NC_000009.11:g.35735109G>C	VUS	1 lab	f4820cfc7a
17:29562997 NF1 CCT>C	17	29562997	29563001	CCT	C	NF1	c.3935_3936del	NM_001042492.3	NP_001035957.1:p.(Ser1312Ter)	NC_000017.10:g.29563000_29563001del	(Likely) pathogenic	1 lab	f48372fd94
2:189871095 COL3A1 C>T	2	189871095	189871095	C	T	COL3A1	c.3118C>T	NM_000090.3	NP_000081.1:p.(Pro1040Ser)	NC_000002.11:g.189871095C>T	VUS	1 lab	f483c3917d
11:118342427 KMT2A C>T	11	118342427	118342427	C	T	KMT2A	c.553C>T	NM_001197104.1	NP_001184033.1:p.(Arg185Ter)	NC_000011.9:g.118342427C>T	(Likely) pathogenic	1 lab	f483c84e7f
9:35737772 GBA2 G>A	9	35737772	35737772	G	A	GBA2	c.2478C>T	NM_001330660.1	NP_001317589.1:p.(Tyr826=)	NC_000009.11:g.35737772G>A	(Likely) benign	1 lab	f484411cb2
12:94763792 CEP83 T>C	12	94763792	94763792	T	C	CEP83	c.954A>G	NM_016122.2	NP_057206.2:p.(Ser318=)	NC_000012.11:g.94763792T>C	(Likely) benign	1 lab	f484d47abb
3:58415529 PDHB G>A	3	58415529	58415529	G	A	PDHB	c.701-3C>T	NM_000925.3	NP_000916.2:p.?	NC_000003.11:g.58415529G>A	(Likely) benign	1 lab	f485cbe90e
1:11189887 MTOR G>A	1	11189887	11189887	G	A	MTOR	c.5622C>T	NM_004958.3	NP_004949.1:p.(Ser1874=)	NC_000001.10:g.11189887G>A	(Likely) benign	1 lab	f4889ae263
7:100731949 TRIM56 C>G	7	100731949	100731949	C	G	TRIM56	c.1356C>G	NM_030961.3	NP_112223.1:p.(His452Gln)	NC_000007.13:g.100731949C>G	(Likely) benign	1 lab	f488eac6f6
16:27789261 KATNIP C>T	16	27789261	27789261	C	T	KATNIP	c.4772C>T	NM_015202.3	NP_056017.3:p.(Ala1591Val)	NC_000016.9:g.27789261C>T	VUS	1 lab	f48a6886a6
21:43161469 RIPK4 G>A	21	43161469	43161469	G	A	RIPK4	c.1884C>T	NM_020639.2	NP_065690.2:p.(Ser628=)	NC_000021.8:g.43161469G>A	(Likely) benign	1 lab	f48c7ad128
X:49126576 PPP1R3F G>T	X	49126576	49126576	G	T	PPP1R3F	c.244G>T	NM_033215.4	NP_149992.3:p.(Asp82Tyr)	NC_000023.10:g.49126576G>T	VUS	1 lab	f48db2d1cb
10:49988015 WDFY4 C>A	10	49988015	49988015	C	A	WDFY4	c.3427C>A	NM_020945.1	NP_065996.1:p.(Pro1143Thr)	NC_000010.10:g.49988015C>A	VUS	1 lab	f48edad77c
X:32717364 DMD G>C	X	32717364	32717364	G	C	DMD	c.327C>G	NM_004010.3	NP_004001.1:p.(Ile109Met)	NC_000023.10:g.32717364G>C	(Likely) benign	1 lab	f48fd1ff51
4:126320024 FAT4 G>C	4	126320024	126320024	G	C	FAT4	c.5261G>C	NM_024582.4	NP_078858.4:p.(Gly1754Ala)	NC_000004.11:g.126320024G>C	VUS	1 lab	f491206c58
1:150525527 ADAMTSL4 C>T	1	150525527	150525527	C	T	ADAMTSL4	c.232C>T	NM_001288608.1	NP_001275537.1:p.(Leu78Phe)	NC_000001.10:g.150525527C>T	VUS	1 lab	f492702ba2
6:86253348 SNX14 G>A	6	86253348	86253348	G	A	SNX14	c.1239C>T	NM_153816.5	NP_722523.1:p.(Pro413=)	NC_000006.11:g.86253348G>A	(Likely) benign	1 lab	f49521d40e
8:6302431 MCPH1 C>A	8	6302431	6302431	C	A	MCPH1	c.1188C>A	NM_001322042.1	NP_001308971.1:p.(His396Gln)	NC_000008.10:g.6302431C>A	(Likely) benign	1 lab	f499b0f60f
13:111082784 COL4A2 G>C	13	111082784	111082784	G	C	COL4A2	c.585+1G>C	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111082784G>C	VUS	1 lab	f49cfc0651
16:30991145 SETD1A G>A	16	30991145	30991145	G	A	SETD1A	c.4038G>A	NM_014712.2	NP_055527.1:p.(Ala1346=)	NC_000016.9:g.30991145G>A	(Likely) benign	1 lab	f4d2604e53
8:145583708 SLC52A2 G>A	8	145583708	145583708	G	A	SLC52A2	c.556G>A	NM_024531.4	NP_078807.1:p.(Asp186Asn)	NC_000008.10:g.145583708G>A	(Likely) benign	1 lab	f49e226733
6:31606936 BAG6 G>A	6	31606936	31606936	G	A	BAG6	c.3371C>T	NM_004639.3	NP_004630.3:p.(Ala1124Val)	NC_000006.11:g.31606936G>A	VUS	1 lab	f49e2d1d99
2:15432855 NBAS C>G	2	15432855	15432855	C	G	NBAS	c.4833G>C	NM_015909.3	NP_056993.2:p.(Arg1611Ser)	NC_000002.11:g.15432855C>G	VUS	1 lab	f49fad08d4
1:152281976 FLG G>A	1	152281976	152281976	G	A	FLG	c.5386C>T	NM_002016.1	NP_002007.1:p.(Gln1796Ter)	NC_000001.10:g.152281976G>A	VUS	1 lab	f4a0f745d2
16:81348865 GAN G>A	16	81348865	81348865	G	A	GAN	c.147G>A	NM_022041.3	NP_071324.1:p.(Ala49=)	NC_000016.9:g.81348865G>A	(Likely) benign	1 lab	f4a16f853a
18:43508981 EPG5 T>TG	18	43508981	43508987	T	TG	EPG5	c.2413-7dup	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43508987dup	(Likely) benign	1 lab	f4a185e5fc
21:38128931 HLCS C>T	21	38128931	38128931	C	T	HLCS	c.1921G>A	NM_001242784.2	NP_001229713.1:p.(Val641Met)	NC_000021.8:g.38128931C>T	(Likely) benign	1 lab	f4a23d0c37
2:179454308 TTN C>T	2	179454308	179454308	C	T	TTN	c.62144G>A	NM_001267550.1	NP_001254479.1:p.(Trp20715Ter)	NC_000002.11:g.179454308C>T	(Likely) pathogenic	1 lab	f4a53c8859
16:730526 STUB1 A>G	16	730526	730526	A	G	STUB1	c.1A>G	NM_005861.3	NP_005852.2:p.(Met1?)	NC_000016.9:g.730526A>G	VUS	1 lab	f4a57af017
12:49421811 KMT2D C>A	12	49421811	49421811	C	A	KMT2D	c.14496G>T	NM_003482.3	NP_003473.3:p.(Lys4832Asn)	NC_000012.11:g.49421811C>A	VUS	1 lab	f4a885fa8e
X:114426175 RBMXL3 C>T	X	114426175	114426175	C	T	RBMXL3	c.2171C>T	NM_001145346.1	NP_001138818.1:p.(Ser724Leu)	NC_000023.10:g.114426175C>T	(Likely) benign	1 lab	f4a8e6ae5a
15:44858439 SPG11 C>CTGT	15	44858439	44858440	C	CTGT	SPG11	c.6818_6819insACA	NM_025137.3	NP_079413.3:p.(Leu2273_Asp2274insGln)	NC_000015.9:g.44858439_44858440insTGT	VUS	1 lab	f4a9b1b204
17:39723482 KRT9 TA>T	17	39723482	39723483	TA	T	KRT9	c.*40+2del	NM_000226.4	NP_000217.2:p.?	NC_000017.10:g.39723483del	VUS	1 lab	f4ab912abd
13:96415967 DNAJC3 C>T	13	96415967	96415967	C	T	DNAJC3	c.919C>T	NM_006260.4	NP_006251.1:p.(Arg307Cys)	NC_000013.10:g.96415967C>T	VUS	1 lab	f4ac12e2f6
2:220431710 OBSL1 G>A	2	220431710	220431710	G	A	OBSL1	c.1976C>T	NM_015311.2	NP_056126.1:p.(Pro659Leu)	NC_000002.11:g.220431710G>A	VUS	1 lab	f4ac7de3f7
10:85957594 CDHR1 T>A	10	85957594	85957594	T	A	CDHR1	c.348+2T>A	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85957594T>A	(Likely) pathogenic	1 lab	f4ad69a286
13:39265748 FREM2 G>A	13	39265748	39265748	G	A	FREM2	c.4267G>A	NM_207361.5	NP_997244.4:p.(Asp1423Asn)	NC_000013.10:g.39265748G>A	VUS	1 lab	f4ae5b6d0e
2:202575803 ALS2 G>A	2	202575803	202575803	G	A	ALS2	c.4033C>T	NM_020919.3	NP_065970.2:p.(Gln1345Ter)	NC_000002.11:g.202575803G>A	VUS	1 lab	f4aebe48bf
7:107600268 LAMB1 C>T	7	107600268	107600268	C	T	LAMB1	c.2326G>A	NM_002291.2	NP_002282.2:p.(Asp776Asn)	NC_000007.13:g.107600268C>T	VUS	1 lab	f4b0450375
9:139328551 INPP5E T>C	9	139328551	139328551	T	C	INPP5E	c.972A>G	NM_019892.5	NP_063945.2:p.(Pro324=)	NC_000009.11:g.139328551T>C	(Likely) benign	1 lab	f4b07f4284
2:71847686 DYSF G>A	2	71847686	71847686	G	A	DYSF	c.4471G>A	NM_001130981.1	NP_001124453.1:p.(Gly1491Ser)	NC_000002.11:g.71847686G>A	(Likely) benign	1 lab	f4b1af00ac
X:27840009 MAGEB10 A>G	X	27840009	27840009	A	G	MAGEB10	c.586A>G	NM_182506.3	NP_872312.2:p.(Thr196Ala)	NC_000023.10:g.27840009A>G	(Likely) benign	1 lab	f4b2fae20a
7:4827934 AP5Z1 C>T	7	4827934	4827934	C	T	AP5Z1	c.1595+9C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4827934C>T	(Likely) benign	1 lab	f4b3ad7b84
15:35086979 ACTC1 C>T	15	35086979	35086979	C	T	ACTC1	c.31G>A	NM_005159.4	NP_005150.1:p.(Val11Met)	NC_000015.9:g.35086979C>T	VUS	1 lab	f4b4c2e327
X:47060735 UBA1 A>G	X	47060735	47060735	A	G	UBA1	c.648A>G	NM_003334.4	NP_003325.2:p.(Pro216=)	NC_000023.10:g.47060735A>G	(Likely) benign	1 lab	f4b51ab56d
16:2152589 PKD1 G>A	16	2152589	2152589	G	A	PKD1	c.8994C>T	NM_001009944.2	NP_001009944.2:p.(His2998=)	NC_000016.9:g.2152589G>A	(Likely) benign	1 lab	f4b616f474
10:97471746 ENTPD1 G>A	10	97471746	97471746	G	A	ENTPD1	c.33G>A	NM_001098175.1	NP_001091645.1:p.(Gln11=)	NC_000010.10:g.97471746G>A	(Likely) benign	1 lab	f4b72e6f3a
6:152673387 SYNE1 C>T	6	152673387	152673387	C	T	SYNE1	c.11355G>A	NM_182961.3	NP_892006.3:p.(Arg3785=)	NC_000006.11:g.152673387C>T	(Likely) benign	1 lab	f4b7943be7
9:135772072 TSC1 G>A	9	135772072	135772072	G	A	TSC1	c.3045C>T	NM_000368.4	NP_000359.1:p.(Asn1015=)	NC_000009.11:g.135772072G>A	(Likely) benign	1 lab	f4baac9903
5:157158450 THG1L T>C	5	157158450	157158450	T	C	THG1L	c.2T>C	NM_017872.5	NP_060342.2:p.(Met1?)	NC_000005.9:g.157158450T>C	VUS	1 lab	f4bbf995fe
9:14737469 FREM1 T>C	9	14737469	14737469	T	C	FREM1	c.6465A>G	NM_144966.5	NP_659403.4:p.(Gln2155=)	NC_000009.11:g.14737469T>C	(Likely) benign	1 lab	f4bbfff82b
16:89986365 MC1R G>A	16	89986365	89986365	G	A	MC1R	c.699G>A	NM_002386.3	NP_002377.4:p.(Gln233=)	NC_000016.9:g.89986365G>A	(Likely) benign	1 lab	f4bc4dcc28
11:6638097 TPP1 A>T	11	6638097	6638097	A	T	TPP1	c.688-7T>A	NM_000391.3	NP_000382.3:p.?	NC_000011.9:g.6638097A>T	(Likely) benign	1 lab	f4be0b94f8
16:87678051 JPH3 C>T	16	87678051	87678051	C	T	JPH3	c.570C>T	NM_020655.3	NP_065706.2:p.(Ala190=)	NC_000016.9:g.87678051C>T	(Likely) benign	1 lab	f4be4b7636
12:2789679 CACNA1C G>A	12	2789679	2789679	G	A	CACNA1C	c.5562G>A	NM_001167625.1	NP_001161097.1:p.(Leu1854=)	NC_000012.11:g.2789679G>A	(Likely) benign	1 lab	f4bfddd7b1
11:66639546 PC C>T	11	66639546	66639546	C	T	PC	c.85G>A	NM_001040716.1	NP_001035806.1:p.(Val29Ile)	NC_000011.9:g.66639546C>T	(Likely) benign	1 lab	f4c2ecfceb
8:145737904 RECQL4 C>T	8	145737904	145737904	C	T	RECQL4	c.2926G>A	NM_004260.3	NP_004251.3:p.(Glu976Lys)	NC_000008.10:g.145737904C>T	(Likely) benign	1 lab	f4c408abde
16:30970495 SETD1A C>T	16	30970495	30970495	C	T	SETD1A	c.234C>T	NM_014712.2	NP_055527.1:p.(Val78=)	NC_000016.9:g.30970495C>T	(Likely) benign	1 lab	f4c68d4526
3:136046029 PCCB C>A	3	136046029	136046029	C	A	PCCB	c.1291C>A	NM_001178014.1	NP_001171485.1:p.(His431Asn)	NC_000003.11:g.136046029C>A	(Likely) pathogenic	1 lab	f4c908c6df
21:33691670 URB1 C>A	21	33691670	33691670	C	A	URB1	c.5649G>T	NM_014825.3	NP_055640.2:p.(Trp1883Cys)	NC_000021.8:g.33691670C>A	VUS	1 lab	f4c96805d1
14:23861765 MYH6 A>G	14	23861765	23861765	A	G	MYH6	c.3342+6T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23861765A>G	(Likely) benign	1 lab	f4cb0399a4
11:102033247 YAP1 C>T	11	102033247	102033247	C	T	YAP1	c.633C>T	NM_001282101.1	NP_001269030.1:p.(Asn211=)	NC_000011.9:g.102033247C>T	(Likely) benign	1 lab	f4cb440166
7:45040057 CCM2 G>C	7	45040057	45040057	G	C	CCM2	c.30+95G>C	NM_031443.3	NP_113631.1:p.?	NC_000007.13:g.45040057G>C	(Likely) benign	1 lab	f4ccbf84a0
16:3843422 CREBBP T>G	16	3843422	3843422	T	G	CREBBP	c.1181A>C	NM_004380.2	NP_004371.2:p.(His394Pro)	NC_000016.9:g.3843422T>G	(Likely) pathogenic	1 lab	f4ccfd167e
1:68910303 RPE65 C>A	1	68910303	68910303	C	A	RPE65	c.406G>T	NM_000329.2	NP_000320.1:p.(Val136Phe)	NC_000001.10:g.68910303C>A	VUS	1 lab	f4cd1d2bc4
5:141694467 SPRY4 G>A	5	141694467	141694467	G	A	SPRY4	c.207C>T	NM_001293289.1	NP_001280218.1:p.(Gly69=)	NC_000005.9:g.141694467G>A	(Likely) benign	1 lab	f4ce24319d
3:49662587 BSN C>T	3	49662587	49662587	C	T	BSN	c.404C>T	NM_003458.3	NP_003449.2:p.(Thr135Ile)	NC_000003.11:g.49662587C>T	(Likely) benign	1 lab	f4cfbf7651
17:2569296 PAFAH1B1 T>C	17	2569296	2569296	T	C	PAFAH1B1	c.118-14T>C	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2569296T>C	(Likely) benign	1 lab	f4d464712e
19:18968142 UPF1 G>T	19	18968142	18968142	G	T	UPF1	c.2015G>T	NM_001297549.1	NP_001284478.1:p.(Gly672Val)	NC_000019.9:g.18968142G>T	VUS	1 lab	f4d5d7bac9
9:126134488 CRB2 C>T	9	126134488	126134488	C	T	CRB2	c.2469C>T	NM_173689.6	NP_775960.4:p.(Leu823=)	NC_000009.11:g.126134488C>T	(Likely) benign	1 lab	f4d600a083
6:41000734 UNC5CL C>A	6	41000734	41000734	C	A	UNC5CL	c.838G>T	NM_173561.3	NP_775832.2:p.(Ala280Ser)	NC_000006.11:g.41000734C>A	VUS	1 lab	f4d88ce2ce
1:63043025 DOCK7 T>C	1	63043025	63043025	T	C	DOCK7	c.2020A>G	NM_001271999.1	NP_001258928.1:p.(Met674Val)	NC_000001.10:g.63043025T>C	VUS	1 lab	f4d9885a99
19:18888000 CRTC1 C>A	19	18888000	18888000	C	A	CRTC1	c.1761C>A	NM_001098482.1	NP_001091952.1:p.(Pro587=)	NC_000019.9:g.18888000C>A	(Likely) benign	1 lab	f4db337bae
4:435852 ZNF721 T>C	4	435852	435852	T	C	ZNF721	c.2404A>G	NM_133474.4	NP_597731.2:p.(Ile802Val)	NC_000004.11:g.435852T>C	(Likely) benign	1 lab	f4dbf5698c
2:29296666 PCARE T>C	2	29296666	29296666	T	C	PCARE	c.462A>G	NM_001029883.2	NP_001025054.1:p.(Ser154=)	NC_000002.11:g.29296666T>C	(Likely) benign	1 lab	f4dd02f58b
3:4711377 ITPR1 C>T	3	4711377	4711377	C	T	ITPR1	c.1881C>T	NM_001168272.1	NP_001161744.1:p.(Asn627=)	NC_000003.11:g.4711377C>T	(Likely) benign	1 lab	f4dd706ebe
11:76831879 CAPN5 A>C	11	76831879	76831879	A	C	CAPN5	c.1411A>C	NM_004055.4	NP_004046.2:p.(Ile471Leu)	NC_000011.9:g.76831879A>C	VUS	1 lab	f4de0745ef
7:117251703 CFTR C>T	7	117251703	117251703	C	T	CFTR	c.3208C>T	NM_000492.3	NP_000483.3:p.(Arg1070Trp)	NC_000007.13:g.117251703C>T	VUS	1 lab	f4de637793
20:10626070 JAG1 G>A	20	10626070	10626070	G	A	JAG1	c.2047C>T	NM_000214.3	NP_000205.1:p.(Arg683Cys)	NC_000020.10:g.10626070G>A	VUS	1 lab	f4defd8f05
10:102777855 PDZD7 C>A	10	102777855	102777855	C	A	PDZD7	c.1522+1G>T	NM_001195263.1	NP_001182192.1:p.?	NC_000010.10:g.102777855C>A	VUS	1 lab	f4f43bea93
8:37555663 ZNF703 C>A	8	37555663	37555663	C	A	ZNF703	c.1244C>A	NM_025069.3	NP_079345.1:p.(Pro415Gln)	NC_000008.10:g.37555663C>A	VUS	1 lab	f4e3d26f8f
17:78064009 CCDC40 C>A	17	78064009	78064009	C	A	CCDC40	c.2904C>A	NM_001243342.1	NP_001230271.1:p.(Cys968Ter)	NC_000017.10:g.78064009C>A	(Likely) pathogenic	1 lab	f4e4ad6271
21:34011368 SYNJ1 C>T	21	34011368	34011368	C	T	SYNJ1	c.3882G>A	NM_203446.2	NP_982271.2:p.(Pro1294=)	NC_000021.8:g.34011368C>T	(Likely) benign	1 lab	f4e6095598
X:153692601 PLXNA3 A>T	X	153692601	153692601	A	T	PLXNA3	c.1773A>T	NM_017514.4	NP_059984.3:p.(Glu591Asp)	NC_000023.10:g.153692601A>T	(Likely) benign	1 lab	f4e7bcb989
X:75650017 MAGEE1 G>A	X	75650017	75650017	G	A	MAGEE1	c.1694G>A	NM_020932.2	NP_065983.1:p.(Gly565Glu)	NC_000023.10:g.75650017G>A	VUS	1 lab	f4e8239ed1
7:114284850 FOXP2 T>A	7	114284850	114284850	T	A	FOXP2	c.1169+6T>A	NM_148898.3	NP_683696.2:p.?	NC_000007.13:g.114284850T>A	VUS	1 lab	f4e8d9c5c9
X:101096305 NXF5 G>A	X	101096305	101096305	G	A	NXF5	c.322-3C>T	NM_032946.2	NP_116564.2:p.?	NC_000023.10:g.101096305G>A	(Likely) benign	1 lab	f4ea17d033
16:74808633 FA2H G>T	16	74808633	74808633	G	T	FA2H	c.21C>A	NM_024306.4	NP_077282.3:p.(Pro7=)	NC_000016.9:g.74808633G>T	(Likely) benign	1 lab	f4ea59c99f
13:31821204 B3GLCT A>G	13	31821204	31821204	A	G	B3GLCT	c.315A>G	NM_194318.3	NP_919299.3:p.(Glu105=)	NC_000013.10:g.31821204A>G	(Likely) benign	1 lab	f4ec566abc
22:36697100 MYH9 T>G	22	36697100	36697100	T	G	MYH9	c.2635A>C	NM_002473.5	NP_002464.1:p.(Met879Leu)	NC_000022.10:g.36697100T>G	(Likely) benign	1 lab	f4ed1aec73
12:49579639 TUBA1A A>G	12	49579639	49579639	A	G	TUBA1A	c.510T>C	NM_006009.3	NP_006000.2:p.(Ser170=)	NC_000012.11:g.49579639A>G	(Likely) benign	1 lab	f4f3368f9d
11:6007200 OR52L1 C>T	11	6007200	6007200	C	T	OR52L1	c.961G>A	NM_001005173.3	NP_001005173.3:p.(Val321Met)	NC_000011.9:g.6007200C>T	VUS	1 lab	f4f3a1c393
X:107834394 COL4A5 T>G	X	107834394	107834394	T	G	COL4A5	c.1272T>G	NM_033380.2	NP_203699.1:p.(Leu424=)	NC_000023.10:g.107834394T>G	(Likely) benign	1 lab	f4f640e21d
22:33254006 TIMP3 C>T	22	33254006	33254006	C	T	TIMP3	c.319C>T	NM_000362.4	NP_000353.1:p.(Arg107Cys)	NC_000022.10:g.33254006C>T	VUS	1 lab	f4f644f0e1
20:31368171 DNMT3B C>T	20	31368171	31368171	C	T	DNMT3B	c.42C>T	NM_006892.3	NP_008823.1:p.(Ala14=)	NC_000020.10:g.31368171C>T	(Likely) benign	1 lab	f4f6787459
X:129290565 AIFM1 T>C	X	129290565	129290565	T	C	AIFM1	c.119A>G	NM_001130847.3	NP_001124319.1:p.(Gln40Arg)	NC_000023.10:g.129290565T>C	(Likely) benign	1 lab	f4f68f3138
1:200017415 NR5A2 A>G	1	200017415	200017415	A	G	NR5A2	c.579A>G	NM_205860.2	NP_995582.1:p.(Leu193=)	NC_000001.10:g.200017415A>G	(Likely) benign	1 lab	f4f889179e
4:123301250 ADAD1 A>G	4	123301250	123301250	A	G	ADAD1	c.26A>G	NM_139243.4	NP_640336.1:p.(Gln9Arg)	NC_000004.11:g.123301250A>G	VUS	1 lab	f4f909e73e
X:148568553 IDS G>C	X	148568553	148568553	G	C	IDS	c.1083C>G	NM_000202.7	NP_000193.1:p.(Phe361Leu)	NC_000023.10:g.148568553G>C	VUS	1 lab	f4fa61b953
2:73829305 ALMS1 C>T	2	73829305	73829305	C	T	ALMS1	c.12118-7C>T	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73829305C>T	(Likely) benign	1 lab	f4fdc82d45
X:1720175 AKAP17A A>G	X	1720175	1720175	A	G	AKAP17A	c.1776A>G	NM_005088.2	NP_005079.2:p.(Gly592=)	NC_000023.10:g.1720175A>G	(Likely) benign	1 lab	f4fdeb9be4
2:27801281 SPATA31H1 T>C	2	27801281	27801281	T	C	SPATA31H1	c.1842T>C	NM_032266.3	NP_115642.3:p.(Val614=)	NC_000002.11:g.27801281T>C	(Likely) benign	1 lab	f4febedac7
6:80197555 LCA5 C>T	6	80197555	80197555	C	T	LCA5	c.1260G>A	NM_181714.3	NP_859065.2:p.(Lys420=)	NC_000006.11:g.80197555C>T	(Likely) benign	1 lab	f5004943f8
3:142278199 ATR T>C	3	142278199	142278199	T	C	ATR	c.1626A>G	NM_001184.3	NP_001175.2:p.(Lys542=)	NC_000003.11:g.142278199T>C	VUS	1 lab	f5037776e7
12:110600786 IFT81 G>A	12	110600786	110600786	G	A	IFT81	c.1104G>A	NM_014055.3	NP_054774.2:p.(Lys368=)	NC_000012.11:g.110600786G>A	(Likely) benign	1 lab	f50400ec53
11:47354281 MYBPC3 A>AG	11	47354281	47354284	A	AG	MYBPC3	c.3491-29dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354284dup	(Likely) benign	1 lab	f504788a37
3:121491523 IQCB1 T>C	3	121491523	121491523	T	C	IQCB1	c.1448A>G	NM_001023570.3	NP_001018864.2:p.(His483Arg)	NC_000003.11:g.121491523T>C	VUS	1 lab	f504ce781f
11:66456618 SPTBN2 G>A	11	66456618	66456618	G	A	SPTBN2	c.5983C>T	NM_006946.3	NP_008877.1:p.(Arg1995Cys)	NC_000011.9:g.66456618G>A	VUS	1 lab	f504d4e401
5:13714681 DNAH5 C>T	5	13714681	13714681	C	T	DNAH5	c.12958G>A	NM_001369.2	NP_001360.1:p.(Ala4320Thr)	NC_000005.9:g.13714681C>T	VUS	1 lab	f505e3a2db
11:66468459 SPTBN2 G>A	11	66468459	66468459	G	A	SPTBN2	c.3111C>T	NM_006946.3	NP_008877.1:p.(Asn1037=)	NC_000011.9:g.66468459G>A	(Likely) benign	1 lab	f5071fa8e9
9:134385275 POMT1 G>C	9	134385275	134385275	G	C	POMT1	c.606-15G>C	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134385275G>C	(Likely) benign	1 lab	f507aa4211
8:145003918 PLEC C>T	8	145003918	145003918	C	T	PLEC	c.3230G>A	NM_201380.3	NP_958782.1:p.(Ser1077Asn)	NC_000008.10:g.145003918C>T	VUS	1 lab	f507f64ce1
14:105412849 AHNAK2 A>C	14	105412849	105412849	A	C	AHNAK2	c.8939T>G	NM_138420.3	NP_612429.2:p.(Met2980Arg)	NC_000014.8:g.105412849A>C	VUS	1 lab	f50b2fb2d6
2:219527728 BCS1L G>A	2	219527728	219527728	G	A	BCS1L	c.1007+5G>A	NM_004328.4	NP_004319.1:p.?	NC_000002.11:g.219527728G>A	VUS	1 lab	f50bb59970
9:420413 DOCK8 T>G	9	420413	420413	T	G	DOCK8	c.3853T>G	NM_203447.3	NP_982272.2:p.(Tyr1285Asp)	NC_000009.11:g.420413T>G	(Likely) benign	1 lab	f50df1cf08
20:57428981 GNAS G>A	20	57428981	57428981	G	A	GNAS	c.661G>A	NM_080425.3	NP_536350.2:p.(Glu221Lys)	NC_000020.10:g.57428981G>A	(Likely) benign	1 lab	f50ebc4d1b
3:179051597 ZNF639 C>T	3	179051597	179051597	C	T	ZNF639	c.845C>T	NM_016331.2	NP_057415.1:p.(Thr282Ile)	NC_000003.11:g.179051597C>T	(Likely) benign	1 lab	f50f1f6339
18:67801786 RTTN T>C	18	67801786	67801786	T	C	RTTN	c.2886-9A>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67801786T>C	(Likely) benign	1 lab	f50fde50f0
1:7805929 CAMTA1 C>T	1	7805929	7805929	C	T	CAMTA1	c.4395C>T	NM_015215.3	NP_056030.1:p.(Thr1465=)	NC_000001.10:g.7805929C>T	(Likely) benign	1 lab	f50ff7bbe8
4:10089388 WDR1 G>A	4	10089388	10089388	G	A	WDR1	c.894C>T	NM_017491.4	NP_059830.1:p.(Ser298=)	NC_000004.11:g.10089388G>A	(Likely) benign	1 lab	f512629252
3:129695764 TRH C>T	3	129695764	129695764	C	T	TRH	c.434C>T	NM_007117.4	NP_009048.1:p.(Ala145Val)	NC_000003.11:g.129695764C>T	VUS	1 lab	f56f461aad
8:17829850 PCM1 G>A	8	17829850	17829850	G	A	PCM1	c.3714G>A	NM_001352650.1	NP_001339579.1:p.(Leu1238=)	NC_000008.10:g.17829850G>A	(Likely) benign	1 lab	f5141670e2
1:2339994 PEX10 A>G	1	2339994	2339994	A	G	PEX10	c.497T>C	NM_153818.1	NP_722540.1:p.(Val166Ala)	NC_000001.10:g.2339994A>G	(Likely) benign	1 lab	f51857d2b0
11:76891489 MYO7A G>A	11	76891489	76891489	G	A	MYO7A	c.2656G>A	NM_000260.3	NP_000251.3:p.(Ala886Thr)	NC_000011.9:g.76891489G>A	(Likely) benign	1 lab	f51a3f14fa
16:2111962 TSC2 C>T	16	2111962	2111962	C	T	TSC2	c.1210C>T	NM_000548.3	NP_000539.2:p.(Gln404Ter)	NC_000016.9:g.2111962C>T	(Likely) pathogenic	1 lab	f51ac2e0fb
7:151945334 KMT2C T>C	7	151945334	151945334	T	C	KMT2C	c.2185A>G	NM_170606.2	NP_733751.2:p.(Asn729Asp)	NC_000007.13:g.151945334T>C	(Likely) benign	1 lab	f51af5f501
13:111156264 COL4A2 A>G	13	111156264	111156264	A	G	COL4A2	c.4209A>G	NM_001846.3	NP_001837.2:p.(Thr1403=)	NC_000013.10:g.111156264A>G	(Likely) benign	1 lab	f51ca70c39
15:82555229 SAXO2 C>A	15	82555229	82555229	C	A	SAXO2	c.9C>A	NM_001008226.1	NP_001008227.1:p.(Ala3=)	NC_000015.9:g.82555229C>A	(Likely) benign	1 lab	f51ed4a9be
1:109465156 GPSM2 TCAA>T	1	109465156	109465166	TCAA	T	GPSM2	c.1566_1568del	NM_013296.5	NP_037428.3:p.(Thr523del)	NC_000001.10:g.109465164_109465166del	VUS	1 lab	f51f94f761
8:144947212 EPPK1 G>A	8	144947212	144947212	G	A	EPPK1				NC_000008.10:g.144947212G>A	(Likely) benign	1 lab	f51fd76018
2:141267565 LRP1B C>T	2	141267565	141267565	C	T	LRP1B	c.8330G>A	NM_018557.2	NP_061027.2:p.(Arg2777Gln)	NC_000002.11:g.141267565C>T	(Likely) benign	1 lab	f5219fd253
2:48032167 MSH6 G>C	2	48032167	48032167	G	C	MSH6	c.3556+1G>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032167G>C	(Likely) pathogenic	1 lab	f52267f387
11:22380971 SLC17A6 T>C	11	22380971	22380971	T	C	SLC17A6	c.471T>C	NM_020346.2	NP_065079.1:p.(Ala157=)	NC_000011.9:g.22380971T>C	(Likely) benign	1 lab	f523122488
17:37369800 STAC2 C>T	17	37369800	37369800	C	T	STAC2	c.953G>A	NM_198993.4	NP_945344.1:p.(Arg318Gln)	NC_000017.10:g.37369800C>T	VUS	1 lab	f52575f300
5:150925458 FAT2 C>G	5	150925458	150925458	C	G	FAT2	c.5230G>C	NM_001447.2	NP_001438.1:p.(Val1744Leu)	NC_000005.9:g.150925458C>G	(Likely) benign	1 lab	f525fb3170
16:23444859 COG7 CT>C	16	23444859	23444860	CT	C	COG7	c.810+6del	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23444860del	(Likely) benign	1 lab	f52bfba053
X:152966406 BCAP31 T>C	X	152966406	152966406	T	C	BCAP31	c.928A>G	NM_001139457.2	NP_001132929.1:p.(Lys310Glu)	NC_000023.10:g.152966406T>C	VUS	1 lab	f52d7f8e58
4:981031 IDUA G>A	4	981031	981031	G	A	IDUA	c.158+1G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.981031G>A	(Likely) pathogenic	1 lab	f5330da08a
14:65266465 SPTB T>G	14	65266465	65266465	T	G	SPTB	c.1064A>C	NM_001024858.3	NP_001020029.1:p.(Lys355Thr)	NC_000014.8:g.65266465T>G	VUS	1 lab	f5331f5068
2:215819933 ABCA12 T>C	2	215819933	215819933	T	C	ABCA12	c.6386A>G	NM_173076.2	NP_775099.2:p.(Asn2129Ser)	NC_000002.11:g.215819933T>C	(Likely) benign	1 lab	f533c3ac0b
2:209200043 PIKFYVE C>T	2	209200043	209200043	C	T	PIKFYVE	c.4156C>T	NM_015040.3	NP_055855.2:p.(Arg1386Trp)	NC_000002.11:g.209200043C>T	VUS	1 lab	f533c63292
X:153549230 TKTL1 A>G	X	153549230	153549230	A	G	TKTL1	c.1156A>G	NM_012253.3	NP_036385.3:p.(Ile386Val)	NC_000023.10:g.153549230A>G	(Likely) benign	1 lab	f5346aaabc
X:153008720 ABCD1 C>T	X	153008720	153008720	C	T	ABCD1	c.1911C>T	NM_000033.3	NP_000024.2:p.(Ile637=)	NC_000023.10:g.153008720C>T	(Likely) benign	1 lab	f536359b57
7:151932913 KMT2C C>T	7	151932913	151932913	C	T	KMT2C	c.2758G>A	NM_170606.2	NP_733751.2:p.(Val920Ile)	NC_000007.13:g.151932913C>T	(Likely) benign	1 lab	f538f94fa9
X:49048212 SYP G>A	X	49048212	49048212	G	A	SYP	c.624C>T	NM_003179.2	NP_003170.1:p.(Gly208=)	NC_000023.10:g.49048212G>A	(Likely) benign	1 lab	f539cd500f
16:88494205 ZNF469 G>A	16	88494205	88494205	G	A	ZNF469				NC_000016.9:g.88494205G>A	(Likely) benign	1 lab	f53ae36bc4
5:82789441 VCAN C>T	5	82789441	82789441	C	T	VCAN	c.522C>T	NM_004385.4	NP_004376.2:p.(Asp174=)	NC_000005.9:g.82789441C>T	(Likely) benign	1 lab	f53b1baf2a
12:32949242 PKP2 G>T	12	32949242	32949242	G	T	PKP2	c.2300-10C>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949242G>T	(Likely) benign	1 lab	f53cd9becf
11:1270826 MUC5B T>C	11	1270826	1270826	T	C	MUC5B	c.12716T>C	NM_002458.2	NP_002449.2:p.(Met4239Thr)	NC_000011.9:g.1270826T>C	(Likely) benign	1 lab	f53d86557b
10:97366643 ALDH18A1 T>C	10	97366643	97366643	T	C	ALDH18A1	c.2264A>G	NM_001323413.1	NP_001310342.1:p.(Glu755Gly)	NC_000010.10:g.97366643T>C	VUS	1 lab	f53eff1b1b
8:126061295 WASHC5 T>C	8	126061295	126061295	T	C	WASHC5	c.2332A>G	NM_014846.3	NP_055661.3:p.(Ile778Val)	NC_000008.10:g.126061295T>C	(Likely) benign	1 lab	f53f06f29c
1:158061178 KIRREL1 G>A	1	158061178	158061178	G	A	KIRREL1	c.1003G>A	NM_001286349.1	NP_001273278.1:p.(Val335Met)	NC_000001.10:g.158061178G>A	(Likely) benign	1 lab	f53fe81a8b
6:33281150 TAPBP AT>A	6	33281150	33281153	AT	A	TAPBP	c.312del	NM_003190.5	NP_003181.3:p.(Lys104AsnfsTer6)	NC_000006.11:g.33281153del	VUS	1 lab	f53ff049fa
X:153418486 OPN1LW T>C	X	153418486	153418486	T	C	OPN1LW	c.483T>C	NM_020061.5	NP_064445.2:p.(Asn161=)	NC_000023.10:g.153418486T>C	(Likely) benign	1 lab	f5412c2239
X:77150868 MAGT1 T>C	X	77150868	77150868	T	C	MAGT1	c.136A>G	NM_032121.5	NP_115497.4:p.(Met46Val)	NC_000023.10:g.77150868T>C	(Likely) benign	1 lab	f54135454e
11:17656672 OTOG G>A	11	17656672	17656672	G	A	OTOG	c.7667G>A	NM_001277269.1	NP_001264198.1:p.(Arg2556Gln)	NC_000011.9:g.17656672G>A	(Likely) benign	1 lab	f5415dd64e
1:234745130 IRF2BP2 G>A	1	234745130	234745130	G	A	IRF2BP2	c.111C>T	NM_182972.2	NP_892017.2:p.(Cys37=)	NC_000001.10:g.234745130G>A	(Likely) benign	1 lab	f542e7e4c2
21:46896294 COL18A1 G>A	21	46896294	46896294	G	A	COL18A1	c.828G>A	NM_130445.2	NP_569712.2:p.(Ala276=)	NC_000021.8:g.46896294G>A	(Likely) benign	1 lab	f54319ec3e
5:77411998 AP3B1 A>G	5	77411998	77411998	A	G	AP3B1	c.1882T>C	NM_001271769.1	NP_001258698.1:p.(Ser628Pro)	NC_000005.9:g.77411998A>G	VUS	1 lab	f543ae25ca
5:150922908 FAT2 T>C	5	150922908	150922908	T	C	FAT2	c.7780A>G	NM_001447.2	NP_001438.1:p.(Ile2594Val)	NC_000005.9:g.150922908T>C	(Likely) benign	1 lab	f543b834ec
2:129025949 HS6ST1 G>A	2	129025949	129025949	G	A	HS6ST1	c.1023C>T	NM_004807.2	NP_004798.3:p.(Asn341=)	NC_000002.11:g.129025949G>A	(Likely) benign	1 lab	f54514b73a
6:3225475 TUBB2B G>A	6	3225475	3225475	G	A	TUBB2B	c.848C>T	NM_178012.4	NP_821080.1:p.(Ala283Val)	NC_000006.11:g.3225475G>A	VUS	1 lab	f545429d57
18:10696160 PIEZO2 T>C	18	10696160	10696160	T	C	PIEZO2	c.6763A>G	NM_022068.3	NP_071351.2:p.(Thr2255Ala)	NC_000018.9:g.10696160T>C	VUS	1 lab	f5472454ef
X:153222793 HCFC1 C>T	X	153222793	153222793	C	T	HCFC1	c.2325G>A	NM_005334.2	NP_005325.2:p.(Ser775=)	NC_000023.10:g.153222793C>T	(Likely) benign	1 lab	f5492738cb
7:128480071 FLNC C>G	7	128480071	128480071	C	G	FLNC	c.1412-6C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128480071C>G	(Likely) benign	1 lab	f54c674912
4:110772994 LRIT3 T>C	4	110772994	110772994	T	C	LRIT3	c.451T>C	NM_198506.4	NP_940908.3:p.(Tyr151His)	NC_000004.11:g.110772994T>C	VUS	1 lab	f54cea785f
4:129812279 SCLT1 G>C	4	129812279	129812279	G	C	SCLT1	c.1843C>G	NM_144643.3	NP_653244.2:p.(Arg615Gly)	NC_000004.11:g.129812279G>C	VUS	1 lab	f54da5f1e0
X:28807496 IL1RAPL1 C>T	X	28807496	28807496	C	T	IL1RAPL1	c.36C>T	NM_014271.3	NP_055086.1:p.(Tyr12=)	NC_000023.10:g.28807496C>T	(Likely) benign	1 lab	f54ebd0902
18:44159660 LOXHD1 A>G	18	44159660	44159660	A	G	LOXHD1	c.1742T>C	NM_144612.6	NP_653213.6:p.(Val581Ala)	NC_000018.9:g.44159660A>G	(Likely) benign	1 lab	f54f586aa3
14:105415493 AHNAK2 C>A	14	105415493	105415493	C	A	AHNAK2	c.6295G>T	NM_138420.3	NP_612429.2:p.(Asp2099Tyr)	NC_000014.8:g.105415493C>A	(Likely) benign	1 lab	f54f616020
17:29528504 NF1 G>T	17	29528504	29528504	G	T	NF1	c.1260+1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528504G>T	(Likely) pathogenic	1 lab	f5504bc4d5
7:92119161 PEX1 T>C	7	92119161	92119161	T	C	PEX1	c.2879A>G	NM_001282678.1	NP_001269607.1:p.(Asp960Gly)	NC_000007.13:g.92119161T>C	VUS	1 lab	f552a86da3
X:154743749 TMLHE T>A	X	154743749	154743749	T	A	TMLHE	c.536A>T	NM_018196.3	NP_060666.1:p.(Lys179Met)	NC_000023.10:g.154743749T>A	(Likely) benign	1 lab	f5539a9f51
1:11855389 MTHFR C>T	1	11855389	11855389	C	T	MTHFR	c.797G>A	NM_005957.4	NP_005948.3:p.(Arg266Gln)	NC_000001.10:g.11855389C>T	VUS	1 lab	f553f24eeb
9:79469073 PRUNE2 A>G	9	79469073	79469073	A	G	PRUNE2	c.88T>C	NM_015225.3	NP_056040.2:p.(Cys30Arg)	NC_000009.11:g.79469073A>G	VUS	1 lab	f553f8e469
5:67589313 PIK3R1 T>A	5	67589313	67589313	T	A	PIK3R1	c.1299+2T>A	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67589313T>A	(Likely) pathogenic	1 lab	f55664313f
1:152191064 HRNR T>C	1	152191064	152191064	T	C	HRNR	c.3041A>G	NM_001009931.2	NP_001009931.1:p.(His1014Arg)	NC_000001.10:g.152191064T>C	(Likely) benign	1 lab	f557dbb84b
14:76957815 ESRRB C>T	14	76957815	76957815	C	T	ESRRB	c.813C>T	NM_004452.3	NP_004443.3:p.(Asp271=)	NC_000014.8:g.76957815C>T	(Likely) benign	1 lab	f558b0273d
3:48682235 CELSR3 C>T	3	48682235	48682235	C	T	CELSR3	c.7999G>A	NM_001407.2	NP_001398.2:p.(Gly2667Ser)	NC_000003.11:g.48682235C>T	VUS	1 lab	f55ba36ca3
17:8785087 PIK3R5 A>C	17	8785087	8785087	A	C	PIK3R5	c.2299+18T>G	NM_014308.3	NP_055123.2:p.?	NC_000017.10:g.8785087A>C	(Likely) benign	1 lab	f55d380f5d
5:150946008 FAT2 T>C	5	150946008	150946008	T	C	FAT2	c.2485A>G	NM_001447.2	NP_001438.1:p.(Ile829Val)	NC_000005.9:g.150946008T>C	VUS	1 lab	f55dad553e
15:86807504 AGBL1 C>G	15	86807504	86807504	C	G	AGBL1	c.1102C>G	NM_152336.3	NP_689549.3:p.(Leu368Val)	NC_000015.9:g.86807504C>G	(Likely) benign	1 lab	f55dced3de
X:70343485 MED12 C>T	X	70343485	70343485	C	T	MED12	c.1659C>T	NM_005120.2	NP_005111.2:p.(Ile553=)	NC_000023.10:g.70343485C>T	(Likely) benign	1 lab	f55ed67210
2:217279618 SMARCAL1 C>T	2	217279618	217279618	C	T	SMARCAL1	c.191C>T	NM_014140.3	NP_054859.2:p.(Pro64Leu)	NC_000002.11:g.217279618C>T	VUS	1 lab	f55f85dd14
13:111114453 COL4A2 T>A	13	111114453	111114453	T	A	COL4A2	c.1597-8T>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111114453T>A	(Likely) benign	1 lab	f55fe790a7
5:149759278 TCOF1 G>T	5	149759278	149759278	G	T	TCOF1	c.2842G>T	NM_001135243.1	NP_001128715.1:p.(Ala948Ser)	NC_000005.9:g.149759278G>T	(Likely) benign	1 lab	f56198578d
1:211280659 KCNH1 T>C	1	211280659	211280659	T	C	KCNH1	c.140A>G	NM_172362.2	NP_758872.1:p.(Asp47Gly)	NC_000001.10:g.211280659T>C	VUS	1 lab	f561ce3cbf
11:3239437 MRGPRG C>T	11	3239437	3239437	C	T	MRGPRG	c.607G>A	NM_001164377.1	NP_001157849.1:p.(Ala203Thr)	NC_000011.9:g.3239437C>T	(Likely) benign	1 lab	f561da231d
3:122002586 CASR C>T	3	122002586	122002586	C	T	CASR	c.1815C>T	NM_001178065.1	NP_001171536.1:p.(His605=)	NC_000003.11:g.122002586C>T	(Likely) benign	1 lab	f5624a0e36
13:77566361 CLN5 G>A	13	77566361	77566361	G	A	CLN5	c.275G>A	NM_006493.2	NP_006484.1:p.(Arg92Gln)	NC_000013.10:g.77566361G>A	(Likely) benign	1 lab	f562c3be88
1:16373110 CLCNKB G>A	1	16373110	16373110	G	A	CLCNKB	c.310G>A	NM_000085.4	NP_000076.2:p.(Val104Ile)	NC_000001.10:g.16373110G>A	(Likely) benign	1 lab	f56364a0e6
10:123310888 FGFR2 T>G	10	123310888	123310888	T	G	FGFR2	c.540A>C	NM_022970.3	NP_075259.4:p.(Pro180=)	NC_000010.10:g.123310888T>G	(Likely) benign	1 lab	f5649f27c6
5:33989506 AMACR C>G	5	33989506	33989506	C	G	AMACR	c.841G>C	NM_014324.5	NP_055139.4:p.(Ala281Pro)	NC_000005.9:g.33989506C>G	VUS	1 lab	f564f861e5
10:64974316 JMJD1C C>T	10	64974316	64974316	C	T	JMJD1C	c.1611G>A	NM_032776.2	NP_116165.1:p.(Met537Ile)	NC_000010.10:g.64974316C>T	(Likely) benign	1 lab	f5682776ff
15:66222061 MEGF11 G>T	15	66222061	66222061	G	T	MEGF11	c.1569C>A	NM_032445.2	NP_115821.2:p.(Cys523Ter)	NC_000015.9:g.66222061G>T	VUS	1 lab	f56971839b
X:85218888 CHM C>T	X	85218888	85218888	C	T	CHM	c.40G>A	NM_001362517.1	NP_001349446.1:p.(Asp14Asn)	NC_000023.10:g.85218888C>T	VUS	1 lab	f56b3a1887
11:108123543 ATM G>C	11	108123543	108123543	G	C	ATM	c.1803-1G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123543G>C	(Likely) pathogenic	1 lab	f56d9d51a7
4:126371762 FAT4 T>A	4	126371762	126371762	T	A	FAT4	c.9597T>A	NM_001291303.1	NP_001278232.1:p.(Asp3199Glu)	NC_000004.11:g.126371762T>A	(Likely) benign	1 lab	f56def2f70
21:46907379 COL18A1 G>A	21	46907379	46907379	G	A	COL18A1	c.3097G>A	NM_130444.3	NP_569711.2:p.(Gly1033Arg)	NC_000021.8:g.46907379G>A	VUS	1 lab	f56e3c9a9a
17:77755806 CBX2 C>T	17	77755806	77755806	C	T	CBX2	c.494C>T	NM_032647.3	NP_116036.1:p.(Pro165Leu)	NC_000017.10:g.77755806C>T	(Likely) benign	1 lab	f56eccb9f1
X:140995553 MAGEC1 C>T	X	140995553	140995553	C	T	MAGEC1	c.2363C>T	NM_005462.4	NP_005453.2:p.(Ala788Val)	NC_000023.10:g.140995553C>T	VUS	1 lab	f56fdd0937
13:52532611 ATP7B C>T	13	52532611	52532611	C	T	ATP7B	c.2191G>A	NM_000053.3	NP_000044.2:p.(Val731Met)	NC_000013.10:g.52532611C>T	VUS	1 lab	f57267c6fd
X:52682453 SSX7 C>A	X	52682453	52682453	C	A	SSX7	c.69+1G>T	NM_173358.2	NP_775494.1:p.?	NC_000023.10:g.52682453C>A	VUS	1 lab	f572e783b8
11:6648676 DCHS1 G>A	11	6648676	6648676	G	A	DCHS1				NC_000011.9:g.6648676G>A	VUS	1 lab	f5739f1c11
11:108137993 ATM C>T	11	108137993	108137993	C	T	ATM	c.2562C>T	NM_001351834.1	NP_001338763.1:p.(Ser854=)	NC_000011.9:g.108137993C>T	(Likely) benign	1 lab	f57573a615
13:99040676 FARP1 C>T	13	99040676	99040676	C	T	FARP1	c.799C>T	NM_005766.3	NP_005757.1:p.(Arg267Trp)	NC_000013.10:g.99040676C>T	VUS	1 lab	f577457b48
4:108870681 CYP2U1 A>G	4	108870681	108870681	A	G	CYP2U1	c.1456+8A>G	NM_183075.2	NP_898898.1:p.?	NC_000004.11:g.108870681A>G	(Likely) benign	1 lab	f578cd0805
22:32200215 DEPDC5 T>C	22	32200215	32200215	T	C	DEPDC5	c.1143+6T>C	NM_001242896.2	NP_001229825.1:p.?	NC_000022.10:g.32200215T>C	(Likely) benign	1 lab	f5858f1dc2
2:16082616 MYCN G>A	2	16082616	16082616	G	A	MYCN	c.430G>A	NM_001293228.1	NP_001280157.1:p.(Gly144Ser)	NC_000002.11:g.16082616G>A	(Likely) benign	1 lab	f579823dce
9:37780719 EXOSC3 G>A	9	37780719	37780719	G	A	EXOSC3	c.785C>T	NM_016042.3	NP_057126.2:p.(Ser262Leu)	NC_000009.11:g.37780719G>A	(Likely) benign	1 lab	f57a782547
8:140630989 KCNK9 C>T	8	140630989	140630989	C	T	KCNK9	c.637G>A	NM_001282534.1	NP_001269463.1:p.(Ala213Thr)	NC_000008.10:g.140630989C>T	VUS	1 lab	f57ac1a397
X:77245260 ATP7A T>TA	X	77245260	77245263	T	TA	ATP7A	c.1145dup	NM_000052.6	NP_000043.4:p.(Asn382LysfsTer3)	NC_000023.10:g.77245263dup	(Likely) pathogenic	1 lab	f57afbd98e
3:4859892 ITPR1 C>G	3	4859892	4859892	C	G	ITPR1	c.7949C>G	NM_001168272.1	NP_001161744.1:p.(Thr2650Ser)	NC_000003.11:g.4859892C>G	VUS	1 lab	f57b460e63
X:132826453 GPC3 A>G	X	132826453	132826453	A	G	GPC3	c.1305T>C	NM_001164617.1	NP_001158089.1:p.(His435=)	NC_000023.10:g.132826453A>G	(Likely) benign	1 lab	f57c2a3623
9:124543794 DAB2IP G>A	9	124543794	124543794	G	A	DAB2IP	c.3282G>A	NM_032552.3	NP_115941.2:p.(Ala1094=)	NC_000009.11:g.124543794G>A	(Likely) benign	1 lab	f57c7f163e
X:124455974 TEX13C A>G	X	124455974	124455974	A	G	TEX13C	c.2006A>G	NM_001195272.2	NP_001182201.1:p.(His669Arg)	NC_000023.10:g.124455974A>G	VUS	1 lab	f57d47c017
X:49063219 CACNA1F G>A	X	49063219	49063219	G	A	CACNA1F	c.5362C>T	NM_005183.3	NP_005174.2:p.(Arg1788Cys)	NC_000023.10:g.49063219G>A	VUS	1 lab	f57e311980
6:24503636 ALDH5A1 T>C	6	24503636	24503636	T	C	ALDH5A1	c.584T>C	NM_170740.1	NP_733936.1:p.(Ile195Thr)	NC_000006.11:g.24503636T>C	VUS	1 lab	f5817265e6
1:196977701 CFHR5 CAG>C	1	196977701	196977703	CAG	C	CFHR5	c.1599_1600del	NM_030787.4	NP_110414.1:p.(Asp535CysfsTer3)	NC_000001.10:g.196977702_196977703del	VUS	1 lab	f5829c549b
9:130286118 NIBAN2 C>A	9	130286118	130286118	C	A	NIBAN2	c.429G>T	NM_022833.4	NP_073744.2:p.(Thr143=)	NC_000009.11:g.130286118C>A	(Likely) benign	1 lab	f5847a55f1
19:13372343 CACNA1A C>T	19	13372343	13372343	C	T	CACNA1A	c.4183G>A	NM_023035.2	NP_075461.2:p.(Ala1395Thr)	NC_000019.9:g.13372343C>T	VUS	1 lab	f587cbff1a
5:127671743 FBN2 C>T	5	127671743	127671743	C	T	FBN2	c.3661G>A	NM_001999.3	NP_001990.2:p.(Gly1221Arg)	NC_000005.9:g.127671743C>T	VUS	1 lab	f588aaa87f
9:135796750 TSC1 C>T	9	135796750	135796750	C	T	TSC1	c.737G>A	NM_000368.4	NP_000359.1:p.(Arg246Lys)	NC_000009.11:g.135796750C>T	VUS	1 lab	f58af8d478
17:26881426 PIGS C>A	17	26881426	26881426	C	A	PIGS	c.1480G>T	NM_033198.4	NP_149975.1:p.(Ala494Ser)	NC_000017.10:g.26881426C>A	VUS	1 lab	f58b4bbaca
2:230841042 FBXO36 TC>T	2	230841042	230841044	TC	T	FBXO36	c.184del	NM_174899.5	NP_777559.3:p.(Leu62Ter)	NC_000002.11:g.230841044del	VUS	1 lab	f58b5f698d
2:47177515 TTC7A A>G	2	47177515	47177515	A	G	TTC7A	c.198A>G	NM_001288951.1	NP_001275880.1:p.(Lys66=)	NC_000002.11:g.47177515A>G	(Likely) benign	1 lab	f58d20e958
19:11541831 PRKCSH C>T	19	11541831	11541831	C	T	PRKCSH				NC_000019.9:g.11541831C>T	(Likely) benign	1 lab	f58ddce1c9
7:4827275 AP5Z1 G>A	7	4827275	4827275	G	A	AP5Z1	c.1322G>A	NM_014855.3	NP_055670.1:p.(Trp441Ter)	NC_000007.13:g.4827275G>A	VUS	1 lab	f58f10656d
2:231067313 SP110 G>C	2	231067313	231067313	G	C	SP110	c.1030C>G	NM_080424.2	NP_536349.2:p.(Arg344Gly)	NC_000002.11:g.231067313G>C	(Likely) benign	1 lab	f59010cd5a
11:19204209 CSRP3 G>T	11	19204209	19204209	G	T	CSRP3				NC_000011.9:g.19204209G>T	VUS	1 lab	f590207366
10:50081681 WDFY4 G>A	10	50081681	50081681	G	A	WDFY4	c.6887G>A	NM_020945.1	NP_065996.1:p.(Arg2296Gln)	NC_000010.10:g.50081681G>A	VUS	1 lab	f5902cf28d
18:34298176 FHOD3 C>T	18	34298176	34298176	C	T	FHOD3	c.2915C>T	NM_001281740.2	NP_001268669.1:p.(Pro972Leu)	NC_000018.9:g.34298176C>T	(Likely) benign	1 lab	f590699f97
11:44219485 EXT2 G>A	11	44219485	44219485	G	A	EXT2	c.1442G>A	NM_001178083.1	NP_001171554.1:p.(Arg481Gln)	NC_000011.9:g.44219485G>A	VUS	1 lab	f5906ee145
12:1902920 CACNA2D4 A>C	12	1902920	1902920	A	C	CACNA2D4	c.3315T>G	NM_172364.4	NP_758952.4:p.(Asn1105Lys)	NC_000012.11:g.1902920A>C	VUS	1 lab	f59153bfcb
1:45293560 PTCH2 G>A	1	45293560	45293560	G	A	PTCH2	c.2013C>T	NM_001166292.1	NP_001159764.1:p.(Phe671=)	NC_000001.10:g.45293560G>A	(Likely) benign	1 lab	f5945fb918
X:85219048 CHM C>A	X	85219048	85219048	C	A	CHM	c.324G>T	NM_000390.2	NP_000381.1:p.(Leu108Phe)	NC_000023.10:g.85219048C>A	VUS	1 lab	f59676b8bb
22:40814697 MRTFA G>C	22	40814697	40814697	G	C	MRTFA				NC_000022.10:g.40814697G>C	VUS	1 lab	f597068b66
11:108163341 ATM A>G	11	108163341	108163341	A	G	ATM	c.4437-5A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108163341A>G	(Likely) benign	1 lab	f598bd4790
X:3573197 PRKX C>G	X	3573197	3573197	C	G	PRKX	c.592G>C	NM_005044.4	NP_005035.1:p.(Val198Leu)	NC_000023.10:g.3573197C>G	(Likely) benign	1 lab	f598bf537a
1:3347556 PRDM16 C>T	1	3347556	3347556	C	T	PRDM16	c.3405C>T	NM_022114.3	NP_071397.3:p.(Ala1135=)	NC_000001.10:g.3347556C>T	(Likely) benign	1 lab	f59a1763f4
5:138282841 SIL1 C>T	5	138282841	138282841	C	T	SIL1	c.1351G>A	NM_001037633.1	NP_001032722.1:p.(Gly451Ser)	NC_000005.9:g.138282841C>T	(Likely) benign	1 lab	f59c2775fe
X:65411980 HEPH C>G	X	65411980	65411980	C	G	HEPH	c.1234C>G	NM_138737.4	NP_620074.3:p.(Gln412Glu)	NC_000023.10:g.65411980C>G	(Likely) benign	1 lab	f59c5d9834
21:46902717 COL18A1 A>G	21	46902717	46902717	A	G	COL18A1	c.2223A>G	NM_030582.4	NP_085059.2:p.(Ala741=)	NC_000021.8:g.46902717A>G	(Likely) benign	1 lab	f59d0f3d7c
10:124351844 DMBT1 C>T	10	124351844	124351844	C	T	DMBT1	c.2233C>T	NM_007329.2	NP_015568.2:p.(Arg745Ter)	NC_000010.10:g.124351844C>T	VUS	1 lab	f59f2f264c
8:90965828 NBN T>C	8	90965828	90965828	T	C	NBN	c.1489A>G	NM_002485.4	NP_002476.2:p.(Thr497Ala)	NC_000008.10:g.90965828T>C	(Likely) benign	1 lab	f59f8a583e
11:121498300 SORL1 C>T	11	121498300	121498300	C	T	SORL1	c.6401C>T	NM_003105.5	NP_003096.1:p.(Thr2134Met)	NC_000011.9:g.121498300C>T	(Likely) benign	1 lab	f5a147a20d
8:87666252 CNGB3 AGAAGT>A	8	87666252	87666257	AGAAGT	A	CNGB3	c.886_890del	NM_019098.5	NP_061971.3:p.(Thr296TyrfsTer14)	NC_000008.10:g.87666253_87666257del	(Likely) pathogenic	1 lab	f5a2011e89
20:45358077 SLC2A10 A>G	20	45358077	45358077	A	G	SLC2A10	c.1497A>G	NM_030777.3	NP_110404.1:p.(Glu499=)	NC_000020.10:g.45358077A>G	(Likely) benign	1 lab	f5a2295202
1:228404212 OBSCN A>C	1	228404212	228404212	A	C	OBSCN	c.2186A>C	NM_001271223.2	NP_001258152.2:p.(Glu729Ala)	NC_000001.10:g.228404212A>C	VUS	1 lab	f5a2789da3
11:94533196 AMOTL1 C>A	11	94533196	94533196	C	A	AMOTL1	c.840C>A	NM_130847.3	NP_570899.1:p.(Pro280=)	NC_000011.9:g.94533196C>A	(Likely) benign	1 lab	f5a2b7bbec
17:48646318 CACNA1G C>T	17	48646318	48646318	C	T	CACNA1G	c.330C>T	NM_018896.4	NP_061496.2:p.(Asp110=)	NC_000017.10:g.48646318C>T	(Likely) benign	1 lab	f5a440c54a
18:677773 ENOSF1 A>G	18	677773	677773	A	G	ENOSF1	c.1018T>C	NM_017512.7	NP_059982.2:p.(Ser340Pro)	NC_000018.9:g.677773A>G	VUS	1 lab	f5a4446864
9:135776157 TSC1 TC>T	9	135776157	135776161	TC	T	TSC1	c.2569del	NM_000368.5	NP_000359.1:p.(Glu857ArgfsTer21)	NC_000009.11:g.135776161del	(Likely) pathogenic	1 lab	f5a4702bf3
2:110922710 NPHP1 C>CCTT	2	110922710	110922723	C	CCTT	NPHP1	c.644_646dup	NM_000272.3	NP_000263.2:p.(Glu215dup)	NC_000002.11:g.110922721_110922723dup	VUS	1 lab	f5a53d0b34
6:129725102 LAMA2 C>G	6	129725102	129725102	C	G	LAMA2	c.5863C>G	NM_000426.3	NP_000417.2:p.(Leu1955Val)	NC_000006.11:g.129725102C>G	VUS	1 lab	f5a543b514
1:7723546 CAMTA1 C>T	1	7723546	7723546	C	T	CAMTA1	c.939C>T	NM_015215.3	NP_056030.1:p.(His313=)	NC_000001.10:g.7723546C>T	(Likely) benign	1 lab	f5a7d8062f
17:29588755 NF1 CT>C	17	29588755	29588759	CT	C	NF1	c.4608del	NM_001042492.3	NP_001035957.1:p.(Phe1536LeufsTer38)	NC_000017.10:g.29588759del	(Likely) pathogenic	1 lab	f5a8f29264
21:43808633 TMPRSS3 G>A	21	43808633	43808633	G	A	TMPRSS3	c.325C>T	NM_024022.2	NP_076927.1:p.(Arg109Trp)	NC_000021.8:g.43808633G>A	(Likely) pathogenic	1 lab	f5a93595d7
19:11685945 ACP5 T>C	19	11685945	11685945	T	C	ACP5	c.858A>G	NM_001111035.2	NP_001104505.1:p.(Glu286=)	NC_000019.9:g.11685945T>C	(Likely) benign	1 lab	f5a9f17bdb
12:65564706 LEMD3 C>G	12	65564706	65564706	C	G	LEMD3	c.1330C>G	NM_014319.4	NP_055134.2:p.(Pro444Ala)	NC_000012.11:g.65564706C>G	VUS	1 lab	f5aad9407e
5:40972534 C7 G>A	5	40972534	40972534	G	A	C7	c.1912G>A	NM_000587.2	NP_000578.2:p.(Asp638Asn)	NC_000005.9:g.40972534G>A	(Likely) benign	1 lab	f5abd5454b
X:153577327 FLNA G>A	X	153577327	153577327	G	A	FLNA	c.7834C>T	NM_001110556.2	NP_001104026.1:p.(Arg2612Trp)	NC_000023.10:g.153577327G>A	VUS	1 lab	f5ac241520
1:7806094 CAMTA1 A>G	1	7806094	7806094	A	G	CAMTA1	c.4560A>G	NM_015215.3	NP_056030.1:p.(Glu1520=)	NC_000001.10:g.7806094A>G	(Likely) benign	1 lab	f5ae07b667
6:16327414 ATXN1 C>T	6	16327414	16327414	C	T	ATXN1	c.1128G>A	NM_000332.3	NP_000323.2:p.(Ser376=)	NC_000006.11:g.16327414C>T	(Likely) benign	1 lab	f5b07b8248
2:11798804 NTSR2 G>A	2	11798804	11798804	G	A	NTSR2	c.1034C>T	NM_012344.4	NP_036476.2:p.(Thr345Ile)	NC_000002.11:g.11798804G>A	(Likely) benign	1 lab	f5b17f2dd5
13:86369132 SLITRK6 A>G	13	86369132	86369132	A	G	SLITRK6	c.1512T>C	NM_032229.3	NP_115605.2:p.(Asp504=)	NC_000013.10:g.86369132A>G	(Likely) benign	1 lab	f5b51d9916
12:111352059 MYL2 T>C	12	111352059	111352059	T	C	MYL2	c.205A>G	NM_000432.3	NP_000423.2:p.(Met69Val)	NC_000012.11:g.111352059T>C	VUS	1 lab	f5b7c275a6
X:38268238 OTC A>C	X	38268238	38268238	A	C	OTC	c.827A>C	NM_000531.5	NP_000522.3:p.(Lys276Thr)	NC_000023.10:g.38268238A>C	(Likely) benign	1 lab	f5b82b9caa
X:137715056 MISSING G>A	X	137715056	137715056	G	A	MISSING				NC_000023.10:g.137715056G>A	(Likely) benign	1 lab	f5b885e153
6:73108778 RIMS1 A>G	6	73108778	73108778	A	G	RIMS1	c.4842A>G	NM_014989.5	NP_055804.2:p.(Pro1614=)	NC_000006.11:g.73108778A>G	(Likely) benign	1 lab	f5b9d10a91
12:121678327 CAMKK2 C>CTTTT	12	121678327	121678340	C	CTTTT	CAMKK2	c.1611_1614dup	NM_001270486.1	NP_001257415.1:p.(Gly539LysfsTer4)	NC_000012.11:g.121678337_121678340dup	(Likely) benign	1 lab	f5ba765e58
2:179426267 TTN T>C	2	179426267	179426267	T	C	TTN	c.84592A>G	NM_001267550.1	NP_001254479.1:p.(Ser28198Gly)	NC_000002.11:g.179426267T>C	VUS	1 lab	f5ba9c0e4e
14:105419697 AHNAK2 C>T	14	105419697	105419697	C	T	AHNAK2	c.2091G>A	NM_138420.3	NP_612429.2:p.(Ser697=)	NC_000014.8:g.105419697C>T	(Likely) benign	1 lab	f5baa9302a
19:35449899 ZNF792 C>T	19	35449899	35449899	C	T	ZNF792	c.860G>A	NM_175872.5	NP_787068.3:p.(Cys287Tyr)	NC_000019.9:g.35449899C>T	VUS	1 lab	f5bbb6d039
5:126776503 MEGF10 AC>A	5	126776503	126776504	AC	A	MEGF10	c.2307del	NM_001256545.2	NP_001243474.1:p.(His769GlnfsTer37)	NC_000005.9:g.126776504del	VUS	1 lab	f5bd0d176e
X:20185731 RPS6KA3 G>A	X	20185731	20185731	G	A	RPS6KA3	c.1578C>T	NM_004586.2	NP_004577.1:p.(Thr526=)	NC_000023.10:g.20185731G>A	(Likely) benign	1 lab	f5bdf8b5cc
15:25599923 UBE3A GAAA>G	15	25599923	25599930	GAAA	G	UBE3A	c.2125-96_2125-94del	NM_130839.5	NP_570854.1:p.?	NC_000015.9:g.25599928_25599930del	(Likely) benign	1 lab	f5be4bc083
X:128710402 OCRL G>A	X	128710402	128710402	G	A	OCRL	c.1991G>A	NM_001318784.1	NP_001305713.1:p.(Arg664Gln)	NC_000023.10:g.128710402G>A	(Likely) benign	1 lab	f5bf0f4c98
6:33131578 COL11A2 C>T	6	33131578	33131578	C	T	COL11A2	c.5088G>A	NM_080680.2	NP_542411.2:p.(Thr1696=)	NC_000006.11:g.33131578C>T	(Likely) benign	1 lab	f5bf8638fe
4:94693546 GRID2 T>A	4	94693546	94693546	T	A	GRID2	c.2921T>A	NM_001510.3	NP_001501.2:p.(Phe974Tyr)	NC_000004.11:g.94693546T>A	VUS	1 lab	f5c30298a5
17:29554619 NF1 GG>C	17	29554619	29554620	GG	C	NF1	c.2404_2405delinsC	NM_000267.3	NP_000258.1:p.(Gly802ProfsTer19)	NC_000017.10:g.29554619_29554620delinsC	(Likely) pathogenic	1 lab	f5c38302f0
X:118694313 STEEP1 C>CTA	X	118694313	118694314	C	CTA	STEEP1	c.159_160insTA	NM_022101.3	NP_071384.1:p.(Asp54Ter)	NC_000023.10:g.118694313_118694314insTA	VUS	1 lab	f5c4f065de
17:79478404 ACTG1 G>A	17	79478404	79478404	G	A	ACTG1	c.612C>T	NM_001199954.2	NP_001186883.1:p.(Ala204=)	NC_000017.10:g.79478404G>A	(Likely) benign	1 lab	f5c5231fa7
11:1278805 MUC5B G>A	11	1278805	1278805	G	A	MUC5B	c.16315G>A	NM_002458.2	NP_002449.2:p.(Glu5439Lys)	NC_000011.9:g.1278805G>A	(Likely) benign	1 lab	f5c547d86b
21:33691671 URB1 C>T	21	33691671	33691671	C	T	URB1	c.5648G>A	NM_014825.3	NP_055640.2:p.(Trp1883Ter)	NC_000021.8:g.33691671C>T	VUS	1 lab	f5c7bfa04b
X:110406854 PAK3 C>A	X	110406854	110406854	C	A	PAK3	c.773C>A	NM_001128168.2	NP_001121640.1:p.(Pro258Gln)	NC_000023.10:g.110406854C>A	(Likely) benign	1 lab	f5cab36a9f
18:44157825 LOXHD1 G>A	18	44157825	44157825	G	A	LOXHD1	c.1815C>T	NM_144612.6	NP_653213.6:p.(Asp605=)	NC_000018.9:g.44157825G>A	(Likely) benign	1 lab	f5cb7a5b60
7:107602035 LAMB1 G>A	7	107602035	107602035	G	A	LAMB1	c.1944C>T	NM_002291.2	NP_002282.2:p.(Pro648=)	NC_000007.13:g.107602035G>A	(Likely) benign	1 lab	f5cb86153f
1:183093917 LAMC1 G>A	1	183093917	183093917	G	A	LAMC1	c.2553G>A	NM_002293.3	NP_002284.3:p.(Lys851=)	NC_000001.10:g.183093917G>A	(Likely) benign	1 lab	f5cd4e4a72
5:1272328 TERT G>C	5	1272328	1272328	G	C	TERT	c.2354C>G	NM_198253.2	NP_937983.2:p.(Pro785Arg)	NC_000005.9:g.1272328G>C	VUS	1 lab	f5cff2b7c2
11:6662544 DCHS1 C>T	11	6662544	6662544	C	T	DCHS1				NC_000011.9:g.6662544C>T	VUS	1 lab	f5d08b6d52
16:53652991 RPGRIP1L C>T	16	53652991	53652991	C	T	RPGRIP1L	c.3562G>A	NM_015272.4	NP_056087.2:p.(Val1188Met)	NC_000016.9:g.53652991C>T	(Likely) benign	1 lab	f5d271f8d4
4:106613140 INTS12 T>C	4	106613140	106613140	T	C	INTS12	c.650A>G	NM_020395.4	NP_065128.2:p.(Lys217Arg)	NC_000004.11:g.106613140T>C	VUS	1 lab	f5d2e19b23
12:64173866 RXYLT1 C>G	12	64173866	64173866	C	G	RXYLT1	c.126C>G	NM_014254.2	NP_055069.1:p.(Gly42=)	NC_000012.11:g.64173866C>G	(Likely) benign	1 lab	f5d49166b8
4:56878104 CEP135 A>C	4	56878104	56878104	A	C	CEP135	c.2755A>C	NM_025009.4	NP_079285.2:p.(Arg919=)	NC_000004.11:g.56878104A>C	(Likely) benign	1 lab	f5d62e58bc
16:2138604 TSC2 TTG>T	16	2138604	2138610	TTG	T	TSC2	c.5422_5423del	NM_000548.5	NP_000539.2:p.(Ter1808ArgextTer76)	NC_000016.9:g.2138609_2138610del	(Likely) pathogenic	1 lab	f5d6824cf5
10:105813860 COL17A1 A>G	10	105813860	105813860	A	G	COL17A1	c.1761T>C	NM_000494.4	NP_000485.3:p.(Pro587=)	NC_000010.10:g.105813860A>G	(Likely) benign	1 lab	f5d6c936cf
11:71819113 LRTOMT C>T	11	71819113	71819113	C	T	LRTOMT	c.503C>T	NM_001145309.3	NP_001138781.1:p.(Thr168Met)	NC_000011.9:g.71819113C>T	(Likely) benign	1 lab	f5d82d2b5b
1:28285341 SMPDL3B G>A	1	28285341	28285341	G	A	SMPDL3B	c.742G>A	NM_001304579.1	NP_001291508.1:p.(Val248Met)	NC_000001.10:g.28285341G>A	(Likely) benign	1 lab	f5da042684
2:55254058 RTN4 C>G	2	55254058	55254058	C	G	RTN4	c.1177G>C	NM_020532.4	NP_065393.1:p.(Val393Leu)	NC_000002.11:g.55254058C>G	VUS	1 lab	f5da68d6f9
3:38182737 MYD88 G>T	3	38182737	38182737	G	T	MYD88	c.914G>T	NM_001172567.1	NP_001166038.1:p.(Trp305Leu)	NC_000003.11:g.38182737G>T	VUS	1 lab	f5db7c855b
2:210860277 UNC80 G>A	2	210860277	210860277	G	A	UNC80	c.9735G>A	NM_032504.1	NP_115893.1:p.(Glu3245=)	NC_000002.11:g.210860277G>A	(Likely) benign	1 lab	f5dbd73881
10:123256058 FGFR2 C>G	10	123256058	123256058	C	G	FGFR2	c.1851G>C	NM_000141.4	NP_000132.3:p.(Leu617Phe)	NC_000010.10:g.123256058C>G	(Likely) pathogenic	1 lab	f5dcaddfb4
3:10401618 ATP2B2 C>T	3	10401618	10401618	C	T	ATP2B2	c.1849G>A	NM_001001331.3	NP_001001331.1:p.(Asp617Asn)	NC_000003.11:g.10401618C>T	(Likely) benign	1 lab	f5dd28c2f4
4:114251471 ANK2 A>C	4	114251471	114251471	A	C	ANK2	c.2970A>C	NM_001148.4	NP_001139.3:p.(Arg990=)	NC_000004.11:g.114251471A>C	(Likely) benign	1 lab	f5de9f3893
13:32950933 BRCA2 G>C	13	32950933	32950933	G	C	BRCA2	c.8754+5G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950933G>C	(Likely) pathogenic	1 lab	f5df6a9d1f
1:152185960 HRNR C>T	1	152185960	152185960	C	T	HRNR	c.8145G>A	NM_001009931.2	NP_001009931.1:p.(Gly2715=)	NC_000001.10:g.152185960C>T	(Likely) benign	1 lab	f5e03e27e0
1:226923809 ITPKB C>G	1	226923809	226923809	C	G	ITPKB	c.1351G>C	NM_002221.3	NP_002212.3:p.(Gly451Arg)	NC_000001.10:g.226923809C>G	VUS	1 lab	f5e045cd0e
2:44507932 SLC3A1 C>G	2	44507932	44507932	C	G	SLC3A1	c.508C>G	NM_000341.3	NP_000332.2:p.(Leu170Val)	NC_000002.11:g.44507932C>G	(Likely) benign	1 lab	f5e22da834
19:39008138 RYR1 C>T	19	39008138	39008138	C	T	RYR1	c.9825C>T	NM_000540.2	NP_000531.2:p.(Pro3275=)	NC_000019.9:g.39008138C>T	(Likely) benign	1 lab	f5e24e9152
2:39025563 DHX57 G>T	2	39025563	39025563	G	T	DHX57	c.4039C>A	NM_198963.3	NP_945314.1:p.(Leu1347Ile)	NC_000002.11:g.39025563G>T	VUS	1 lab	f5e7aab854
4:128878695 MFSD8 T>C	4	128878695	128878695	T	C	MFSD8	c.115A>G	NM_152778.2	NP_689991.1:p.(Ile39Val)	NC_000004.11:g.128878695T>C	(Likely) benign	1 lab	f5eb48bf25
14:64683101 SYNE2 C>G	14	64683101	64683101	C	G	SYNE2	c.19538C>G	NM_182914.2	NP_878918.2:p.(Pro6513Arg)	NC_000014.8:g.64683101C>G	(Likely) benign	1 lab	f5ece22f63
3:48507894 ATRIP G>A	3	48507894	48507894	G	A	ATRIP	c.*941G>A	NM_130384.3	NP_569055.1:p.?	NC_000003.11:g.48507894G>A	VUS	1 lab	f5f03d3197
6:56918118 KIAA1586 A>G	6	56918118	56918118	A	G	KIAA1586	c.620A>G	NM_001286275.1	NP_001273204.1:p.(Glu207Gly)	NC_000006.11:g.56918118A>G	VUS	1 lab	f5f1425b74
X:48681508 HDAC6 C>T	X	48681508	48681508	C	T	HDAC6	c.2699C>T	NM_001321226.1	NP_001308155.1:p.(Thr900Ile)	NC_000023.10:g.48681508C>T	(Likely) benign	1 lab	f5f2c93ca9
16:85687966 GSE1 C>T	16	85687966	85687966	C	T	GSE1	c.509C>T	NM_014615.4	NP_055430.1:p.(Pro170Leu)	NC_000016.9:g.85687966C>T	VUS	1 lab	f5f50b963b
X:118673729 STEEP1 C>T	X	118673729	118673729	C	T	STEEP1	c.483G>A	NM_001170569.1	NP_001164040.1:p.(Ala161=)	NC_000023.10:g.118673729C>T	(Likely) benign	1 lab	f5f5394df3
X:135738515 CD40LG G>A	X	135738515	135738515	G	A	CD40LG	c.347G>A	NM_000074.2	NP_000065.1:p.(Gly116Asp)	NC_000023.10:g.135738515G>A	(Likely) benign	1 lab	f5f6aa7cc9
1:32741200 LCK C>T	1	32741200	32741200	C	T	LCK	c.408C>T	NM_005356.4	NP_005347.3:p.(Asp136=)	NC_000001.10:g.32741200C>T	(Likely) benign	1 lab	f5f7335f65
1:2234447 SKI C>T	1	2234447	2234447	C	T	SKI	c.1000C>T	NM_003036.3	NP_003027.1:p.(Pro334Ser)	NC_000001.10:g.2234447C>T	(Likely) benign	1 lab	f5faea511f
1:93301755 RPL5 T>C	1	93301755	93301755	T	C	RPL5	c.333T>C	NM_000969.5	NP_000960.2:p.(Asn111=)	NC_000001.10:g.93301755T>C	(Likely) benign	1 lab	f5fb068c8e
6:16327237 ATXN1 C>A	6	16327237	16327237	C	A	ATXN1	c.1305G>T	NM_000332.3	NP_000323.2:p.(Gln435His)	NC_000006.11:g.16327237C>A	VUS	1 lab	f5fc45652c
5:68715712 MARVELD2 A>G	5	68715712	68715712	A	G	MARVELD2	c.500A>G	NM_001038603.2	NP_001033692.2:p.(Gln167Arg)	NC_000005.9:g.68715712A>G	(Likely) benign	1 lab	f5fc820c96
X:9661193 TBL1X A>G	X	9661193	9661193	A	G	TBL1X	c.896A>G	NM_005647.3	NP_005638.1:p.(Asn299Ser)	NC_000023.10:g.9661193A>G	VUS	1 lab	f5fdeb4a1e
7:107580565 LAMB1 A>G	7	107580565	107580565	A	G	LAMB1	c.3630T>C	NM_002291.2	NP_002282.2:p.(Ser1210=)	NC_000007.13:g.107580565A>G	(Likely) benign	1 lab	f5fe769671
9:117266737 WHRN G>GT	9	117266737	117266738	G	GT	WHRN	c.344dup	NM_015404.3	NP_056219.3:p.(Tyr115Ter)	NC_000009.11:g.117266738dup	(Likely) pathogenic	1 lab	f601497f94
3:171360656 PLD1 G>C	3	171360656	171360656	G	C	PLD1	c.2567C>G	NM_002662.4	NP_002653.1:p.(Ser856Cys)	NC_000003.11:g.171360656G>C	VUS	1 lab	f602fcb809
1:220368728 RAB3GAP2 C>G	1	220368728	220368728	C	G	RAB3GAP2	c.961-9G>C	NM_012414.3	NP_036546.2:p.?	NC_000001.10:g.220368728C>G	(Likely) benign	1 lab	f603271713
8:145742156 RECQL4 G>A	8	145742156	145742156	G	A	RECQL4	c.355-8C>T	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145742156G>A	(Likely) benign	1 lab	f6041e6c1a
16:732990 STUB1 G>A	16	732990	732990	G	A	STUB1				NC_000016.9:g.732990G>A	VUS	1 lab	f604a6cc19
3:195791279 TFRC C>T	3	195791279	195791279	C	T	TFRC	c.1219G>A	NM_003234.3	NP_003225.2:p.(Ala407Thr)	NC_000003.11:g.195791279C>T	VUS	1 lab	f605c2a3d9
X:153219773 HCFC1 T>C	X	153219773	153219773	T	C	HCFC1	c.4077A>G	NM_005334.2	NP_005325.2:p.(Thr1359=)	NC_000023.10:g.153219773T>C	(Likely) benign	1 lab	f607873faf
4:184626166 TRAPPC11 A>C	4	184626166	184626166	A	C	TRAPPC11	c.2998A>C	NM_021942.5	NP_068761.4:p.(Thr1000Pro)	NC_000004.11:g.184626166A>C	VUS	1 lab	f6082c821c
3:49714398 APEH A>G	3	49714398	49714398	A	G	APEH	c.940A>G	NM_001640.3	NP_001631.3:p.(Ile314Val)	NC_000003.11:g.49714398A>G	(Likely) benign	1 lab	f609feef04
15:45879936 BLOC1S6 G>A	15	45879936	45879936	G	A	BLOC1S6	c.39G>A	NM_001311255.1	NP_001298184.1:p.(Leu13=)	NC_000015.9:g.45879936G>A	(Likely) benign	1 lab	f60aa98b26
X:48839662 GRIPAP1 C>T	X	48839662	48839662	C	T	GRIPAP1	c.1463G>A	NM_020137.4	NP_064522.3:p.(Arg488His)	NC_000023.10:g.48839662C>T	VUS	1 lab	f60bc839d6
10:121431808 BAG3 C>T	10	121431808	121431808	C	T	BAG3	c.549C>T	NM_004281.3	NP_004272.2:p.(Ser183=)	NC_000010.10:g.121431808C>T	(Likely) benign	1 lab	f60c1a5d50
12:69119535 NUP107 A>G	12	69119535	69119535	A	G	NUP107	c.1448A>G	NM_001330192.1	NP_001317121.1:p.(Tyr483Cys)	NC_000012.11:g.69119535A>G	VUS	1 lab	f60ce69cc6
1:215853702 USH2A G>A	1	215853702	215853702	G	A	USH2A	c.12083C>T	NM_206933.2	NP_996816.2:p.(Ala4028Val)	NC_000001.10:g.215853702G>A	VUS	1 lab	f610db6b32
18:67836217 RTTN A>G	18	67836217	67836217	A	G	RTTN	c.1563T>C	NM_173630.3	NP_775901.3:p.(Ile521=)	NC_000018.9:g.67836217A>G	(Likely) benign	1 lab	f61388e346
8:113331098 CSMD3 A>C	8	113331098	113331098	A	C	CSMD3	c.7328T>G	NM_198123.2	NP_937756.1:p.(Leu2443Arg)	NC_000008.10:g.113331098A>C	VUS	1 lab	f615266fea
2:177053538 HOXD1 CT>C	2	177053538	177053539	CT	C	HOXD1	c.10del	NM_024501.3	NP_078777.1:p.(Tyr4ThrfsTer205)	NC_000002.11:g.177053539del	VUS	1 lab	f61935bf1d
16:21739666 OTOA G>C	16	21739666	21739666	G	C	OTOA	c.2121G>C	NM_144672.4	NP_653273.3:p.(Ala707=)	NC_000016.9:g.21739666G>C	(Likely) benign	1 lab	f61b360d95
1:6505721 ESPN C>T	1	6505721	6505721	C	T	ESPN	c.1193-3C>T	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6505721C>T	(Likely) benign	1 lab	f61bd5c950
12:106831540 POLR3B C>T	12	106831540	106831540	C	T	POLR3B	c.1938C>T	NM_018082.5	NP_060552.4:p.(Tyr646=)	NC_000012.11:g.106831540C>T	(Likely) benign	1 lab	f61c0759bb
16:81097373 C16orf46 A>G	16	81097373	81097373	A	G	C16orf46	c.188T>C	NM_001100873.1	NP_001094343.1:p.(Ile63Thr)	NC_000016.9:g.81097373A>G	VUS	1 lab	f61eea3a00
17:77752103 CBX2 C>A	17	77752103	77752103	C	A	CBX2	c.69C>A	NM_005189.2	NP_005180.1:p.(Arg23=)	NC_000017.10:g.77752103C>A	(Likely) benign	1 lab	f624952fde
1:202977838 TMEM183A G>A	1	202977838	202977838	G	A	TMEM183A	c.267G>A	NM_138391.5	NP_612400.3:p.(Glu89=)	NC_000001.10:g.202977838G>A	(Likely) benign	1 lab	f6253fae48
14:23345133 LRP10 G>A	14	23345133	23345133	G	A	LRP10	c.976G>A	NM_014045.4	NP_054764.2:p.(Gly326Ser)	NC_000014.8:g.23345133G>A	(Likely) benign	1 lab	f625c2380c
X:49021089 MAGIX C>T	X	49021089	49021089	C	T	MAGIX	c.241C>T	NM_024859.3	NP_079135.3:p.(Arg81Cys)	NC_000023.10:g.49021089C>T	VUS	1 lab	f6286a63ca
3:172165823 GHSR G>A	3	172165823	172165823	G	A	GHSR	c.381C>T	NM_198407.2	NP_940799.1:p.(Thr127=)	NC_000003.11:g.172165823G>A	(Likely) benign	1 lab	f62c113f55
13:78475230 EDNRB C>T	13	78475230	78475230	C	T	EDNRB	c.1184G>A	NM_001201397.1	NP_001188326.1:p.(Ser395Asn)	NC_000013.10:g.78475230C>T	(Likely) benign	1 lab	f62c426794
X:153218288 HCFC1 G>A	X	153218288	153218288	G	A	HCFC1	c.4619C>T	NM_005334.2	NP_005325.2:p.(Thr1540Ile)	NC_000023.10:g.153218288G>A	(Likely) benign	1 lab	f62da8aa65
16:89350658 ANKRD11 C>T	16	89350658	89350658	C	T	ANKRD11	c.2292G>A	NM_001256182.1	NP_001243111.1:p.(Glu764=)	NC_000016.9:g.89350658C>T	(Likely) benign	1 lab	f62fe7783c
17:29652917 NF1 T>G	17	29652917	29652917	T	G	NF1	c.4852T>G	NM_000267.3	NP_000258.1:p.(Tyr1618Asp)	NC_000017.10:g.29652917T>G	VUS	1 lab	f6306d4eb3
2:238280781 COL6A3 A>C	2	238280781	238280781	A	C	COL6A3	c.3879T>G	NM_004369.3	NP_004360.2:p.(Asp1293Glu)	NC_000002.11:g.238280781A>C	(Likely) benign	1 lab	f632f89bf7
2:21257730 APOB G>A	2	21257730	21257730	G	A	APOB	c.862C>T	NM_000384.2	NP_000375.2:p.(Leu288Phe)	NC_000002.11:g.21257730G>A	VUS	1 lab	f635bcd153
16:2131800 TSC2 G>C	16	2131800	2131800	G	C	TSC2	c.3814+1G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2131800G>C	(Likely) pathogenic	1 lab	f636458f8d
4:183721426 TENM3 G>T	4	183721426	183721426	G	T	TENM3	c.8022G>T	NM_001080477.3	NP_001073946.1:p.(Ser2674=)	NC_000004.11:g.183721426G>T	(Likely) benign	1 lab	f639744162
5:89979523 ADGRV1 G>A	5	89979523	89979523	G	A	ADGRV1	c.5785G>A	NM_032119.4	NP_115495.3:p.(Ala1929Thr)	NC_000005.9:g.89979523G>A	VUS	1 lab	f639ddaa1f
19:9006365 MUC16 C>A	19	9006365	9006365	C	A	MUC16	c.39653G>T	NM_024690.2	NP_078966.2:p.(Gly13218Val)	NC_000019.9:g.9006365C>A	VUS	1 lab	f63beeb8d4
7:100463619 SLC12A9 C>T	7	100463619	100463619	C	T	SLC12A9	c.2137C>T	NM_020246.4	NP_064631.2:p.(Arg713Trp)	NC_000007.13:g.100463619C>T	VUS	1 lab	f63cb95138
6:96973230 UFL1 G>C	6	96973230	96973230	G	C	UFL1	c.310G>C	NM_015323.5	NP_056138.1:p.(Glu104Gln)	NC_000006.11:g.96973230G>C	VUS	1 lab	f63d372c83
12:54677593 HNRNPA1 T>C	12	54677593	54677593	T	C	HNRNPA1	c.908-3T>C	NM_031157.3	NP_112420.1:p.?	NC_000012.11:g.54677593T>C	(Likely) benign	1 lab	f64030e45a
15:43910006 STRC C>A	15	43910006	43910006	C	A	STRC	c.613G>T	NM_153700.2	NP_714544.1:p.(Gly205Cys)	NC_000015.9:g.43910006C>A	VUS	1 lab	f641777d1f
10:8100763 GATA3 G>C	10	8100763	8100763	G	C	GATA3	c.737G>C	NM_001002295.1	NP_001002295.1:p.(Gly246Ala)	NC_000010.10:g.8100763G>C	(Likely) benign	1 lab	f6428ab69d
12:133153493 FBRSL1 G>A	12	133153493	133153493	G	A	FBRSL1	c.1939G>A	NM_001142641.2	NP_001136113.1:p.(Ala647Thr)	NC_000012.11:g.133153493G>A	VUS	1 lab	f643bd2c0c
11:34988244 PDHX A>G	11	34988244	34988244	A	G	PDHX	c.699A>G	NM_003477.2	NP_003468.2:p.(Pro233=)	NC_000011.9:g.34988244A>G	(Likely) benign	1 lab	f64402cf25
2:69659026 NFU1 A>T	2	69659026	69659026	A	T	NFU1	c.94+8T>A	NM_015700.3	NP_056515.2:p.?	NC_000002.11:g.69659026A>T	(Likely) benign	1 lab	f6467edbf6
1:112524291 KCND3 C>A	1	112524291	112524291	C	A	KCND3	c.1058G>T	NM_004980.4	NP_004971.2:p.(Ser353Ile)	NC_000001.10:g.112524291C>A	VUS	1 lab	f64716379b
19:50832213 KCNC3 G>A	19	50832213	50832213	G	A	KCNC3	c.127C>T	NM_004977.2	NP_004968.2:p.(Pro43Ser)	NC_000019.9:g.50832213G>A	(Likely) benign	1 lab	f647419fae
11:58893363 FAM111B G>A	11	58893363	58893363	G	A	FAM111B	c.1793G>A	NM_198947.3	NP_945185.1:p.(Arg598Gln)	NC_000011.9:g.58893363G>A	(Likely) benign	1 lab	f64770fac5
5:110081966 SLC25A46 A>G	5	110081966	110081966	A	G	SLC25A46	c.385-4A>G	NM_138773.3	NP_620128.1:p.?	NC_000005.9:g.110081966A>G	(Likely) benign	1 lab	f6482232fa
17:29665757 NF1 C>G	17	29665757	29665757	C	G	NF1	c.6792C>G	NM_000267.3	NP_000258.1:p.(Tyr2264Ter)	NC_000017.10:g.29665757C>G	(Likely) pathogenic	1 lab	f64c754cf6
11:551258 LRRC56 C>T	11	551258	551258	C	T	LRRC56	c.752C>T	NM_198075.4	NP_932341.1:p.(Ala251Val)	NC_000011.9:g.551258C>T	(Likely) benign	1 lab	f64ef9bbbf
3:47458623 SCAP G>C	3	47458623	47458623	G	C	SCAP	c.3045C>G	NM_012235.4	NP_036367.2:p.(Phe1015Leu)	NC_000003.11:g.47458623G>C	(Likely) benign	1 lab	f652ed492b
6:73830215 KCNQ5 C>T	6	73830215	73830215	C	T	KCNQ5	c.1135C>T	NM_001160133.1	NP_001153605.1:p.(Arg379Cys)	NC_000006.11:g.73830215C>T	VUS	1 lab	f653478ef9
19:13323509 CACNA1A T>C	19	13323509	13323509	T	C	CACNA1A	c.6004A>G	NM_023035.2	NP_075461.2:p.(Thr2002Ala)	NC_000019.9:g.13323509T>C	(Likely) benign	1 lab	f6537cd9b9
2:73993706 DUSP11 A>G	2	73993706	73993706	A	G	DUSP11	c.774T>C	NM_003584.2	NP_003575.2:p.(Ser258=)	NC_000002.11:g.73993706A>G	(Likely) benign	1 lab	f653ac3839
14:51224963 NIN G>T	14	51224963	51224963	G	T	NIN	c.2785C>A	NM_020921.3	NP_065972.3:p.(Gln929Lys)	NC_000014.8:g.51224963G>T	VUS	1 lab	f654fc6f20
12:133331687 ANKLE2 A>G	12	133331687	133331687	A	G	ANKLE2	c.214T>C	NM_015114.2	NP_055929.1:p.(Leu72=)	NC_000012.11:g.133331687A>G	(Likely) benign	1 lab	f65501fd64
15:64067523 HERC1 G>A	15	64067523	64067523	G	A	HERC1	c.300C>T	NM_003922.3	NP_003913.3:p.(Ala100=)	NC_000015.9:g.64067523G>A	(Likely) benign	1 lab	f655f5b650
3:132418913 NPHP3 A>G	3	132418913	132418913	A	G	NPHP3	c.1744-8T>C	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132418913A>G	(Likely) benign	1 lab	f6566dee12
14:88454789 GALC T>C	14	88454789	88454789	T	C	GALC	c.264+10A>G	NM_000153.3	NP_000144.2:p.?	NC_000014.8:g.88454789T>C	(Likely) benign	1 lab	f6571adb06
6:99891508 USP45 G>C	6	99891508	99891508	G	C	USP45	c.2006C>G	NM_001080481.1	NP_001073950.1:p.(Ala669Gly)	NC_000006.11:g.99891508G>C	VUS	1 lab	f657f05b9a
5:138855990 STING1 G>A	5	138855990	138855990	G	A	STING1	c.809C>T	NM_001301738.2	NP_001288667.1:p.(Thr270Ile)	NC_000005.9:g.138855990G>A	(Likely) benign	1 lab	f658e6a66f
X:70328204 IL2RG G>A	X	70328204	70328204	G	A	IL2RG	c.855-8C>T	NM_000206.2	NP_000197.1:p.?	NC_000023.10:g.70328204G>A	(Likely) benign	1 lab	f65b27ed44
19:7709580 STXBP2 G>A	19	7709580	7709580	G	A	STXBP2	c.1221G>A	NM_001272034.1	NP_001258963.1:p.(Ala407=)	NC_000019.9:g.7709580G>A	(Likely) benign	1 lab	f65b828adc
15:28460854 HERC2 G>A	15	28460854	28460854	G	A	HERC2	c.6123C>T	NM_004667.5	NP_004658.3:p.(Gly2041=)	NC_000015.9:g.28460854G>A	(Likely) benign	1 lab	f65ddfff92
X:128605187 SMARCA1 G>A	X	128605187	128605187	G	A	SMARCA1	c.2559C>T	NM_003069.4	NP_003060.2:p.(Leu853=)	NC_000023.10:g.128605187G>A	(Likely) benign	1 lab	f65f136802
21:45712915 AIRE G>A	21	45712915	45712915	G	A	AIRE				NC_000021.8:g.45712915G>A	(Likely) benign	1 lab	f65f78858f
20:4679836 PRNP G>A	20	4679836	4679836	G	A	PRNP	c.-10-21G>A	NM_000311.4	NP_000302.1:p.?	NC_000020.10:g.4679836G>A	(Likely) benign	1 lab	f661cfb019
7:121698933 PTPRZ1 A>G	7	121698933	121698933	A	G	PTPRZ1	c.6608A>G	NM_002851.2	NP_002842.2:p.(Glu2203Gly)	NC_000007.13:g.121698933A>G	VUS	1 lab	f6631d5042
1:216144109 USH2A G>A	1	216144109	216144109	G	A	USH2A	c.6815C>T	NM_206933.2	NP_996816.2:p.(Thr2272Met)	NC_000001.10:g.216144109G>A	(Likely) benign	1 lab	f663362bd4
20:10653543 JAG1 T>TG	20	10653543	10653544	T	TG	JAG1	c.192dup	NM_000214.3	NP_000205.1:p.(Lys65GlnfsTer8)	NC_000020.10:g.10653544dup	(Likely) pathogenic	1 lab	f6639b009c
2:241066314 COPS9 G>A	2	241066314	241066314	G	A	COPS9	c.425C>T	NM_138336.1	NP_612209.1:p.(Ala142Val)	NC_000002.11:g.241066314G>A	(Likely) benign	1 lab	f663f6c95b
9:95483015 BICD2 T>C	9	95483015	95483015	T	C	BICD2	c.629A>G	NM_001003800.1	NP_001003800.1:p.(His210Arg)	NC_000009.11:g.95483015T>C	(Likely) pathogenic	1 lab	f664c228b3
6:13306721 TBC1D7 AG>A	6	13306721	13306723	AG	A	TBC1D7	c.703del	NM_016495.6	NP_057579.1:p.(Leu235Ter)	NC_000006.11:g.13306723del	(Likely) pathogenic	1 lab	f665adcafe
15:28391422 HERC2 C>T	15	28391422	28391422	C	T	HERC2	c.10969G>A	NM_004667.5	NP_004658.3:p.(Val3657Ile)	NC_000015.9:g.28391422C>T	(Likely) benign	1 lab	f665b1d7c6
16:87678038 JPH3 C>A	16	87678038	87678038	C	A	JPH3	c.557C>A	NM_020655.3	NP_065706.2:p.(Ala186Asp)	NC_000016.9:g.87678038C>A	VUS	1 lab	f665edc3dc
2:242674864 D2HGDH C>G	2	242674864	242674864	C	G	D2HGDH	c.225C>G	NM_152783.4	NP_689996.4:p.(Pro75=)	NC_000002.11:g.242674864C>G	(Likely) benign	1 lab	f667920a2d
3:47043467 NBEAL2 C>A	3	47043467	47043467	C	A	NBEAL2	c.4840C>A	NM_015175.2	NP_055990.1:p.(Arg1614Ser)	NC_000003.11:g.47043467C>A	(Likely) benign	1 lab	f668708fc6
2:29474026 ALK C>T	2	29474026	29474026	C	T	ALK				NC_000002.11:g.29474026C>T	VUS	1 lab	f6698ecf16
X:19390913 MAP3K15 C>T	X	19390913	19390913	C	T	MAP3K15	c.2966G>A	NM_001001671.3	NP_001001671.3:p.(Arg989Gln)	NC_000023.10:g.19390913C>T	(Likely) benign	1 lab	f669de9e8a
11:1260731 MUC5B C>T	11	1260731	1260731	C	T	MUC5B	c.3518C>T	NM_002458.2	NP_002449.2:p.(Ala1173Val)	NC_000011.9:g.1260731C>T	VUS	1 lab	f66ae482a8
12:56082681 ITGA7 G>A	12	56082681	56082681	G	A	ITGA7	c.2917C>T	NM_001144996.1	NP_001138468.1:p.(Arg973Cys)	NC_000012.11:g.56082681G>A	VUS	1 lab	f66c4d9364
15:62270844 VPS13C T>C	15	62270844	62270844	T	C	VPS13C	c.2271A>G	NM_001018088.2	NP_001018098.1:p.(Gln757=)	NC_000015.9:g.62270844T>C	(Likely) benign	1 lab	f66caffbc0
16:81819743 PLCG2 G>T	16	81819743	81819743	G	T	PLCG2	c.149G>T	NM_002661.3	NP_002652.2:p.(Arg50Leu)	NC_000016.9:g.81819743G>T	VUS	1 lab	f66dfb67d3
14:64634111 SYNE2 A>G	14	64634111	64634111	A	G	SYNE2	c.16760+6A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64634111A>G	(Likely) benign	1 lab	f6702f5428
13:21142131 IFT88 A>G	13	21142131	21142131	A	G	IFT88	c.16A>G	NM_001318493.1	NP_001305422.1:p.(Thr6Ala)	NC_000013.10:g.21142131A>G	(Likely) benign	1 lab	f670f73239
12:2788929 CACNA1C T>C	12	2788929	2788929	T	C	CACNA1C	c.5555T>C	NM_199460.3	NP_955630.3:p.(Val1852Ala)	NC_000012.11:g.2788929T>C	(Likely) benign	1 lab	f672175abb
6:43582117 POLH T>C	6	43582117	43582117	T	C	POLH	c.1965T>C	NM_006502.2	NP_006493.1:p.(Phe655=)	NC_000006.11:g.43582117T>C	(Likely) benign	1 lab	f67239b313
15:99192856 IGF1R C>T	15	99192856	99192856	C	T	IGF1R	c.46C>T	NM_000875.4	NP_000866.1:p.(Leu16Phe)	NC_000015.9:g.99192856C>T	VUS	1 lab	f672921fa8
6:170159137 ERMARD C>T	6	170159137	170159137	C	T	ERMARD	c.581C>T	NM_018341.2	NP_060811.1:p.(Ala194Val)	NC_000006.11:g.170159137C>T	VUS	1 lab	f674cf5a77
16:72133789 DHX38 G>A	16	72133789	72133789	G	A	DHX38	c.1116+3G>A	NM_014003.3	NP_054722.2:p.?	NC_000016.9:g.72133789G>A	(Likely) benign	1 lab	f67565b30a
1:40778259 COL9A2 G>A	1	40778259	40778259	G	A	COL9A2	c.326C>T	NM_001852.4	NP_001843.1:p.(Pro109Leu)	NC_000001.10:g.40778259G>A	VUS	1 lab	f6760bdf8c
21:46897893 COL18A1 T>C	21	46897893	46897893	T	C	COL18A1	c.1221+14T>C	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46897893T>C	(Likely) benign	1 lab	f67a681f3c
10:29754603 SVIL A>G	10	29754603	29754603	A	G	SVIL	c.6054T>C	NM_021738.2	NP_068506.2:p.(Phe2018=)	NC_000010.10:g.29754603A>G	(Likely) benign	1 lab	f67d325c9e
X:12728649 FRMPD4 G>T	X	12728649	12728649	G	T	FRMPD4	c.1602G>T	NM_014728.3	NP_055543.2:p.(Gln534His)	NC_000023.10:g.12728649G>T	(Likely) benign	1 lab	f67d7bc730
12:124239029 ATP6V0A2 C>T	12	124239029	124239029	C	T	ATP6V0A2	c.2238C>T	NM_012463.3	NP_036595.2:p.(Cys746=)	NC_000012.11:g.124239029C>T	(Likely) benign	1 lab	f67f1d52c5
16:27761614 KATNIP A>T	16	27761614	27761614	A	T	KATNIP	c.3333A>T	NM_015202.3	NP_056017.3:p.(Gly1111=)	NC_000016.9:g.27761614A>T	(Likely) benign	1 lab	f67f330dcb
12:53822730 AMHR2 C>T	12	53822730	53822730	C	T	AMHR2	c.903C>T	NM_020547.3	NP_065434.1:p.(Ser301=)	NC_000012.11:g.53822730C>T	(Likely) benign	1 lab	f67f6c4632
9:18905843 ADAMTSL1 C>T	9	18905843	18905843	C	T	ADAMTSL1	c.4915C>T	NM_001040272.6	NP_001035362.3:p.(Arg1639Trp)	NC_000009.11:g.18905843C>T	VUS	1 lab	f67fec5ffe
6:42852482 RPL7L1 C>T	6	42852482	42852482	C	T	RPL7L1	c.443C>T	NM_198486.3	NP_940888.3:p.(Thr148Ile)	NC_000006.11:g.42852482C>T	VUS	1 lab	f6806fab3d
X:128709894 OCRL GT>G	X	128709894	128709897	GT	G	OCRL	c.1737del	NM_000276.4	NP_000267.2:p.(Arg580GlyfsTer64)	NC_000023.10:g.128709897del	(Likely) pathogenic	1 lab	f6818cfb35
17:3808223 P2RX1 C>T	17	3808223	3808223	C	T	P2RX1	c.286G>A	NM_002558.3	NP_002549.1:p.(Gly96Arg)	NC_000017.10:g.3808223C>T	VUS	1 lab	fbe53a71ca
1:57351636 C8A A>T	1	57351636	57351636	A	T	C8A	c.892A>T	NM_000562.2	NP_000553.1:p.(Thr298Ser)	NC_000001.10:g.57351636A>T	VUS	1 lab	f682867d40
17:79205810 TEPSIN G>A	17	79205810	79205810	G	A	TEPSIN	c.742C>T	NM_001363764.1	NP_001350693.1:p.(Gln248Ter)	NC_000017.10:g.79205810G>A	VUS	1 lab	f6854529f9
1:11861356 MTHFR C>A	1	11861356	11861356	C	A	MTHFR	c.337G>T	NM_005957.4	NP_005948.3:p.(Ala113Ser)	NC_000001.10:g.11861356C>A	VUS	1 lab	f685a62638
19:50813029 MYH14 A>C	19	50813029	50813029	A	C	MYH14	c.6093A>C	NM_001145809.1	NP_001139281.1:p.(Pro2031=)	NC_000019.9:g.50813029A>C	(Likely) benign	1 lab	f686868f6b
X:48676717 HDAC6 G>A	X	48676717	48676717	G	A	HDAC6	c.2085G>A	NM_001321226.1	NP_001308155.1:p.(Ala695=)	NC_000023.10:g.48676717G>A	(Likely) benign	1 lab	f6897fc397
15:90174717 KIF7 G>T	15	90174717	90174717	G	T	KIF7	c.3111+9C>A	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90174717G>T	(Likely) benign	1 lab	f68b59d3f7
8:6296514 MCPH1 A>T	8	6296514	6296514	A	T	MCPH1	c.477A>T	NM_024596.4	NP_078872.2:p.(Ser159=)	NC_000008.10:g.6296514A>T	(Likely) benign	1 lab	f68bb95461
5:52402948 MOCS2 T>A	5	52402948	52402948	T	A	MOCS2	c.57A>T	NM_004531.4	NP_004522.1:p.(Leu19Phe)	NC_000005.9:g.52402948T>A	VUS	1 lab	f68cd43dd4
18:7017267 LAMA1 T>TG	18	7017267	7017268	T	TG	LAMA1	c.2808+9dup	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.7017268dup	(Likely) benign	1 lab	f68e98a489
10:123279521 FGFR2 T>C	10	123279521	123279521	T	C	FGFR2	c.911A>G	NM_000141.4	NP_000132.3:p.(Asp304Gly)	NC_000010.10:g.123279521T>C	VUS	1 lab	f691910895
20:32663710 RALY C>T	20	32663710	32663710	C	T	RALY	c.408C>T	NM_016732.3	NP_057951.1:p.(Pro136=)	NC_000020.10:g.32663710C>T	(Likely) benign	1 lab	f691b002ea
2:64192980 VPS54 G>C	2	64192980	64192980	G	C	VPS54	c.613C>G	NM_016516.2	NP_057600.2:p.(Leu205Val)	NC_000002.11:g.64192980G>C	VUS	1 lab	f692bd2ecc
6:111695344 REV3L T>C	6	111695344	111695344	T	C	REV3L	c.3980A>G	NM_001286431.1	NP_001273360.1:p.(Asn1327Ser)	NC_000006.11:g.111695344T>C	(Likely) benign	1 lab	f693857c88
4:110670646 CFI C>T	4	110670646	110670646	C	T	CFI	c.1044+9G>A	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110670646C>T	(Likely) benign	1 lab	f69421813e
9:133761021 ABL1 G>C	9	133761021	133761021	G	C	ABL1	c.3401G>C	NM_007313.2	NP_009297.2:p.(Ser1134Thr)	NC_000009.11:g.133761021G>C	VUS	1 lab	f695aead38
19:36227616 KMT2B G>A	19	36227616	36227616	G	A	KMT2B	c.7185G>A	NM_014727.2	NP_055542.1:p.(Glu2395=)	NC_000019.9:g.36227616G>A	(Likely) benign	1 lab	f697922517
7:1024660 CYP2W1 G>A	7	1024660	1024660	G	A	CYP2W1	c.412G>A	NM_017781.2	NP_060251.2:p.(Val138Met)	NC_000007.13:g.1024660G>A	(Likely) benign	1 lab	f69a122fcd
3:100451364 TFG G>A	3	100451364	100451364	G	A	TFG	c.428G>A	NM_001195479.1	NP_001182408.1:p.(Gly143Asp)	NC_000003.11:g.100451364G>A	VUS	1 lab	f69ce956c6
10:101569935 ABCC2 T>A	10	101569935	101569935	T	A	ABCC2	c.1860T>A	NM_000392.5	NP_000383.2:p.(Asp620Glu)	NC_000010.10:g.101569935T>A	(Likely) benign	1 lab	f69d2eceb3
17:78188471 SGSH C>T	17	78188471	78188471	C	T	SGSH	c.449G>A	NM_000199.4	NP_000190.1:p.(Arg150Gln)	NC_000017.10:g.78188471C>T	(Likely) pathogenic	1 lab	f69d4d8eff
12:15800092 EPS8 A>G	12	15800092	15800092	A	G	EPS8	c.1537T>C	NM_004447.5	NP_004438.3:p.(Phe513Leu)	NC_000012.11:g.15800092A>G	VUS	1 lab	f69d75eda0
1:110171120 AMPD2 A>G	1	110171120	110171120	A	G	AMPD2	c.1569+3A>G	NM_001257360.1	NP_001244289.1:p.?	NC_000001.10:g.110171120A>G	(Likely) benign	1 lab	f69dd166f9
6:144809899 UTRN G>C	6	144809899	144809899	G	C	UTRN	c.4063G>C	NM_007124.2	NP_009055.2:p.(Glu1355Gln)	NC_000006.11:g.144809899G>C	(Likely) benign	1 lab	f69dfca8dd
16:2134482 TSC2 CAG>C	16	2134482	2134484	CAG	C	TSC2	c.4260_4261del	NM_000548.5	NP_000539.2:p.(Gly1421AspfsTer102)	NC_000016.9:g.2134483_2134484del	(Likely) pathogenic	1 lab	f69e7c4121
1:43886646 SZT2 G>A	1	43886646	43886646	G	A	SZT2	c.1488G>A	NM_015284.3	NP_056099.3:p.(Thr496=)	NC_000001.10:g.43886646G>A	(Likely) benign	1 lab	f6a0db8564
8:11614543 GATA4 C>CCAAGA	8	11614543	11614544	C	CCAAGA	GATA4	c.1097_1098insCAAGA	NM_002052.4	NP_002043.2:p.(Glu367LysfsTer39)	NC_000008.10:g.11614543_11614544insCAAGA	(Likely) pathogenic	1 lab	f6a151088c
15:89860689 POLG C>G	15	89860689	89860689	C	G	POLG	c.3561G>C	NM_002693.2	NP_002684.1:p.(Arg1187=)	NC_000015.9:g.89860689C>G	(Likely) benign	1 lab	f6a15fa0f0
14:91772206 CCDC88C T>C	14	91772206	91772206	T	C	CCDC88C	c.3260A>G	NM_001080414.3	NP_001073883.2:p.(Asn1087Ser)	NC_000014.8:g.91772206T>C	(Likely) benign	1 lab	f6a22645c1
8:11990432 USP17L7 G>A	8	11990432	11990432	G	A	USP17L7	c.1087C>T	NM_001256869.1	NP_001243798.1:p.(Leu363=)	NC_000008.10:g.11990432G>A	(Likely) benign	1 lab	f6a27145ef
10:123276891 FGFR2 G>C	10	123276891	123276891	G	C	FGFR2	c.1026C>G	NM_000141.4	NP_000132.3:p.(Cys342Trp)	NC_000010.10:g.123276891G>C	(Likely) pathogenic	1 lab	f6a282f4e2
19:1469993 APC2 C>G	19	1469993	1469993	C	G	APC2	c.6693C>G	NM_005883.2	NP_005874.1:p.(Asp2231Glu)	NC_000019.9:g.1469993C>G	(Likely) benign	1 lab	f6a38163e2
22:24176480 SMARCB1 C>CG	22	24176480	24176483	C	CG	SMARCB1	c.*116dup	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24176483dup	(Likely) benign	1 lab	f6a519f1d8
9:123202121 CDK5RAP2 C>G	9	123202121	123202121	C	G	CDK5RAP2	c.3278G>C	NM_018249.5	NP_060719.4:p.(Ser1093Thr)	NC_000009.11:g.123202121C>G	(Likely) benign	1 lab	f6a53a5508
7:75611627 POR G>A	7	75611627	75611627	G	A	POR	c.817G>A	NM_000941.2	NP_000932.3:p.(Glu273Lys)	NC_000007.13:g.75611627G>A	VUS	1 lab	f6a5cde908
10:16962122 CUBN C>T	10	16962122	16962122	C	T	CUBN	c.6661G>A	NM_001081.3	NP_001072.2:p.(Val2221Ile)	NC_000010.10:g.16962122C>T	(Likely) benign	1 lab	f6a620ec2d
21:46931074 COL18A1 G>A	21	46931074	46931074	G	A	COL18A1	c.4979G>A	NM_130444.3	NP_569711.2:p.(Gly1660Asp)	NC_000021.8:g.46931074G>A	VUS	1 lab	f6a855f18b
3:75786298 ZNF717 T>C	3	75786298	75786298	T	C	ZNF717	c.2476A>G	NM_001128223.3	NP_001121695.1:p.(Lys826Glu)	NC_000003.11:g.75786298T>C	(Likely) benign	1 lab	f6aa9ba147
X:153220832 HCFC1 A>G	X	153220832	153220832	A	G	HCFC1	c.3018T>C	NM_005334.2	NP_005325.2:p.(Pro1006=)	NC_000023.10:g.153220832A>G	(Likely) benign	1 lab	f6acce3533
6:97339137 NDUFAF4 T>C	6	97339137	97339137	T	C	NDUFAF4	c.371A>G	NM_014165.3	NP_054884.1:p.(Asn124Ser)	NC_000006.11:g.97339137T>C	VUS	1 lab	f6acd261af
4:15542506 CC2D2A T>A	4	15542506	15542506	T	A	CC2D2A	c.2050T>A	NM_001080522.2	NP_001073991.2:p.(Leu684Ile)	NC_000004.11:g.15542506T>A	(Likely) benign	1 lab	f6b19afc75
19:50823927 KCNC3 C>T	19	50823927	50823927	C	T	KCNC3	c.2093G>A	NM_004977.2	NP_004968.2:p.(Arg698His)	NC_000019.9:g.50823927C>T	(Likely) benign	1 lab	f6b1ff8ca3
X:12905876 TLR7 G>A	X	12905876	12905876	G	A	TLR7	c.2249G>A	NM_016562.3	NP_057646.1:p.(Arg750Gln)	NC_000023.10:g.12905876G>A	(Likely) benign	1 lab	f6b45a045e
11:108117781 ATM AGTATTCTTCAGGATTTCGTAATATT>A	11	108117781	108117807	AGTATTCTTCAGGATTTCGTAATATT	A	ATM	c.994_1018del	NM_000051.4	NP_000042.3:p.(Tyr332ProfsTer6)	NC_000011.9:g.108117783_108117807del	(Likely) pathogenic	1 lab	f6b4a04659
19:9067531 MUC16 G>A	19	9067531	9067531	G	A	MUC16	c.19915C>T	NM_024690.2	NP_078966.2:p.(Pro6639Ser)	NC_000019.9:g.9067531G>A	(Likely) benign	1 lab	f6b7b0edc9
3:132416213 NPHP3 T>C	3	132416213	132416213	T	C	NPHP3	c.1986-7A>G	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132416213T>C	(Likely) benign	1 lab	f6b7cd306e
2:170115613 LRP2 C>T	2	170115613	170115613	C	T	LRP2	c.2435G>A	NM_004525.3	NP_004516.2:p.(Arg812Lys)	NC_000002.11:g.170115613C>T	(Likely) benign	1 lab	f6b9d18628
3:37090274 MLH1 C>T	3	37090274	37090274	C	T	MLH1	c.1990-121C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37090274C>T	(Likely) benign	1 lab	0a05c6b8fb
2:135888262 RAB3GAP1 A>T	2	135888262	135888262	A	T	RAB3GAP1	c.1207A>T	NM_001172435.1	NP_001165906.1:p.(Asn403Tyr)	NC_000002.11:g.135888262A>T	VUS	1 lab	f6bb6c6afa
22:40742589 ADSL G>T	22	40742589	40742589	G	T	ADSL	c.27G>T	NM_001363840.1	NP_001350769.1:p.(Ser9=)	NC_000022.10:g.40742589G>T	(Likely) benign	1 lab	f6be0ce9be
1:203150364 CHI3L1 G>A	1	203150364	203150364	G	A	CHI3L1	c.637C>T	NM_001276.2	NP_001267.2:p.(Arg213Cys)	NC_000001.10:g.203150364G>A	VUS	1 lab	f6c0427cac
15:43045273 TTBK2 C>T	15	43045273	43045273	C	T	TTBK2	c.2171G>A	NM_173500.3	NP_775771.3:p.(Gly724Glu)	NC_000015.9:g.43045273C>T	VUS	1 lab	f6c0a83d1a
12:7080212 EMG1 T>G	12	7080212	7080212	T	G	EMG1	c.127C>G	NM_006331.7	NP_006322.4:p.(Leu43Val)	NC_000012.11:g.7080212T>G	(Likely) benign	1 lab	f6c3f639eb
X:70522142 ITGB1BP2 C>T	X	70522142	70522142	C	T	ITGB1BP2	c.130C>T	NM_012278.3	NP_036410.1:p.(Arg44Ter)	NC_000023.10:g.70522142C>T	VUS	1 lab	f6c4d214e1
7:2303982 SNX8 G>A	7	2303982	2303982	G	A	SNX8	c.733C>T	NM_013321.4	NP_037453.1:p.(Arg245Trp)	NC_000007.13:g.2303982G>A	VUS	1 lab	f6c58eb44d
12:65116828 GNS G>A	12	65116828	65116828	G	A	GNS	c.1266C>T	NM_002076.3	NP_002067.1:p.(Asn422=)	NC_000012.11:g.65116828G>A	(Likely) benign	1 lab	f6c59f9f87
1:46870716 FAAH G>A	1	46870716	46870716	G	A	FAAH	c.340G>A	NM_001441.2	NP_001432.2:p.(Val114Met)	NC_000001.10:g.46870716G>A	VUS	1 lab	f6c8a50cc0
1:204957777 NFASC A>G	1	204957777	204957777	A	G	NFASC	c.2610A>G	NM_001005388.2	NP_001005388.2:p.(Val870=)	NC_000001.10:g.204957777A>G	(Likely) benign	1 lab	f6c97d9046
X:57021039 SPIN3 A>G	X	57021039	57021039	A	G	SPIN3	c.342T>C	NM_001010862.3	NP_001010862.2:p.(Val114=)	NC_000023.10:g.57021039A>G	(Likely) benign	1 lab	f6ca132c25
17:29588724 NF1 T>G	17	29588724	29588724	T	G	NF1	c.4515-5T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29588724T>G	(Likely) pathogenic	1 lab	f6ccbf8290
14:74969470 LTBP2 C>T	14	74969470	74969470	C	T	LTBP2	c.5056G>A	NM_000428.2	NP_000419.1:p.(Val1686Ile)	NC_000014.8:g.74969470C>T	(Likely) benign	1 lab	f6cd163f8b
1:236141234 NID1 G>A	1	236141234	236141234	G	A	NID1	c.3677C>T	NM_002508.2	NP_002499.2:p.(Thr1226Ile)	NC_000001.10:g.236141234G>A	(Likely) benign	1 lab	f6ce9695ff
17:29663298 NF1 AAAATT>A	17	29663298	29663308	AAAATT	A	NF1	c.6007-47_6007-43del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29663304_29663308del	(Likely) benign	1 lab	f6ce9d261c
X:135314251 MAP7D3 C>G	X	135314251	135314251	C	G	MAP7D3	c.760G>C	NM_001173517.1	NP_001166988.1:p.(Glu254Gln)	NC_000023.10:g.135314251C>G	(Likely) benign	1 lab	f6cf00df0f
2:32475129 NLRC4 A>G	2	32475129	32475129	A	G	NLRC4	c.1804T>C	NM_021209.4	NP_067032.3:p.(Leu602=)	NC_000002.11:g.32475129A>G	(Likely) benign	1 lab	f6cf0cc001
1:5950995 NPHP4 G>C	1	5950995	5950995	G	C	NPHP4	c.2237C>G	NM_015102.4	NP_055917.1:p.(Thr746Ser)	NC_000001.10:g.5950995G>C	(Likely) benign	1 lab	f6d160df14
4:187540603 FAT1 G>A	4	187540603	187540603	G	A	FAT1	c.7137C>T	NM_005245.3	NP_005236.2:p.(Asp2379=)	NC_000004.11:g.187540603G>A	(Likely) benign	1 lab	f6d1c299db
19:1003399 GRIN3B C>T	19	1003399	1003399	C	T	GRIN3B	c.697C>T	NM_138690.2	NP_619635.1:p.(Pro233Ser)	NC_000019.9:g.1003399C>T	(Likely) benign	1 lab	f6d2d10c0f
8:41591765 ANK1 C>T	8	41591765	41591765	C	T	ANK1	c.130-178G>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41591765C>T	(Likely) benign	1 lab	0537b8e5b0
16:81922866 PLCG2 G>A	16	81922866	81922866	G	A	PLCG2	c.855G>A	NM_002661.3	NP_002652.2:p.(Leu285=)	NC_000016.9:g.81922866G>A	(Likely) benign	1 lab	f6d4221e15
2:48033802 MSH6 A>ACTAT	2	48033802	48033806	A	ACTAT	MSH6	c.4001+13_4001+16dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033803_48033806dup	(Likely) benign	1 lab	f6d4742773
5:137347497 FAM13B C>T	5	137347497	137347497	C	T	FAM13B	c.508G>A	NM_016603.3	NP_057687.2:p.(Ala170Thr)	NC_000005.9:g.137347497C>T	VUS	1 lab	f6d4f26b57
7:97486030 ASNS A>C	7	97486030	97486030	A	C	ASNS	c.1002T>G	NM_133436.3	NP_597680.2:p.(Tyr334Ter)	NC_000007.13:g.97486030A>C	(Likely) pathogenic	1 lab	f6d561c7aa
12:6483843 SCNN1A G>A	12	6483843	6483843	G	A	SCNN1A	c.284C>T	NM_001159576.1	NP_001153048.1:p.(Ala95Val)	NC_000012.11:g.6483843G>A	(Likely) benign	1 lab	f6d87baa62
7:92118618 PEX1 A>T	7	92118618	92118618	A	T	PEX1	c.3132T>A	NM_001282678.1	NP_001269607.1:p.(Asn1044Lys)	NC_000007.13:g.92118618A>T	(Likely) benign	1 lab	f6dce0cf5b
11:78437262 TENM4 C>T	11	78437262	78437262	C	T	TENM4	c.3412G>A	NM_001098816.2	NP_001092286.2:p.(Val1138Met)	NC_000011.9:g.78437262C>T	VUS	1 lab	f6dd377509
1:39854243 MACF1 G>A	1	39854243	39854243	G	A	MACF1	c.9543G>A	NM_012090.5	NP_036222.3:p.(Ala3181=)	NC_000001.10:g.39854243G>A	(Likely) benign	1 lab	f6dd592af1
17:1248777 YWHAE T>C	17	1248777	1248777	T	C	YWHAE	c.732A>G	NM_006761.4	NP_006752.1:p.(Lys244=)	NC_000017.10:g.1248777T>C	(Likely) benign	1 lab	f6dd5a2d67
16:4383414 GLIS2 A>T	16	4383414	4383414	A	T	GLIS2	c.239A>T	NM_001318918.1	NP_001305847.1:p.(Asp80Val)	NC_000016.9:g.4383414A>T	VUS	1 lab	f6de4bd301
19:4552457 SEMA6B G>A	19	4552457	4552457	G	A	SEMA6B	c.966C>T	NM_032108.4	NP_115484.2:p.(Ala322=)	NC_000019.9:g.4552457G>A	(Likely) benign	1 lab	f6ded3900b
1:230839044 AGT G>A	1	230839044	230839044	G	A	AGT	c.1301C>T	NM_000029.3	NP_000020.1:p.(Ala434Val)	NC_000001.10:g.230839044G>A	(Likely) benign	1 lab	f6df1b07c7
19:42753218 ERF G>A	19	42753218	42753218	G	A	ERF	c.1046C>T	NM_006494.3	NP_006485.2:p.(Pro349Leu)	NC_000019.9:g.42753218G>A	VUS	1 lab	f6e2817b79
5:176694712 NSD1 C>T	5	176694712	176694712	C	T	NSD1	c.5296C>T	NM_022455.4	NP_071900.2:p.(Arg1766Ter)	NC_000005.9:g.176694712C>T	(Likely) pathogenic	1 lab	f6e2972ca8
15:49284484 SECISBP2L T>C	15	49284484	49284484	T	C	SECISBP2L	c.3263A>G	NM_001193489.2	NP_001180418.1:p.(Asn1088Ser)	NC_000015.9:g.49284484T>C	(Likely) benign	1 lab	f6e3d0cb27
15:23892311 MAGEL2 G>A	15	23892311	23892311	G	A	MAGEL2	c.579C>T	NM_019066.4	NP_061939.3:p.(Pro193=)	NC_000015.9:g.23892311G>A	(Likely) benign	1 lab	f6e5ad3b62
12:9000160 A2ML1 T>TC	12	9000160	9000165	T	TC	A2ML1	c.1704dup	NM_144670.5	NP_653271.2:p.(Ser569LeufsTer28)	NC_000012.11:g.9000165dup	VUS	1 lab	f6e6a19dce
16:68732168 CDH3 C>T	16	68732168	68732168	C	T	CDH3	c.2355C>T	NM_001793.5	NP_001784.2:p.(Ser785=)	NC_000016.9:g.68732168C>T	(Likely) benign	1 lab	f6e6cc77a4
5:140255760 PCDHA12 G>A	5	140255760	140255760	G	A	PCDHA12	c.703G>A	NM_018903.4	NP_061726.1:p.(Val235Met)	NC_000005.9:g.140255760G>A	(Likely) benign	1 lab	f6e7f2a33c
16:88496751 ZNF469 T>C	16	88496751	88496751	T	C	ZNF469				NC_000016.9:g.88496751T>C	(Likely) benign	1 lab	f6e87f4f3a
X:53264988 IQSEC2 C>A	X	53264988	53264988	C	A	IQSEC2	c.3478G>T	NM_001111125.2	NP_001104595.1:p.(Gly1160Ter)	NC_000023.10:g.53264988C>A	(Likely) pathogenic	1 lab	f6e93eaf48
10:123276848 FGFR2 A>C	10	123276848	123276848	A	C	FGFR2	c.1069T>G	NM_000141.4	NP_000132.3:p.(Leu357Val)	NC_000010.10:g.123276848A>C	VUS	1 lab	f6e9592afa
2:1440078 TPO C>A	2	1440078	1440078	C	A	TPO	c.404C>A	NM_000547.5	NP_000538.3:p.(Pro135His)	NC_000002.11:g.1440078C>A	(Likely) benign	1 lab	f6eabd1843
17:33477186 UNC45B C>T	17	33477186	33477186	C	T	UNC45B	c.325C>T	NM_001033576.1	NP_001028748.1:p.(Arg109Trp)	NC_000017.10:g.33477186C>T	VUS	1 lab	f6f1ab7cb5
X:153199918 NAA10 A>C	X	153199918	153199918	A	C	NAA10	c.32T>G	NM_003491.3	NP_003482.1:p.(Leu11Arg)	NC_000023.10:g.153199918A>C	VUS	1 lab	f6f2416ba5
21:46909426 COL18A1 G>A	21	46909426	46909426	G	A	COL18A1	c.1950G>A	NM_130445.2	NP_569712.2:p.(Pro650=)	NC_000021.8:g.46909426G>A	(Likely) benign	1 lab	f6f408fc65
13:32972755 BRCA2 A>G	13	32972755	32972755	A	G	BRCA2	c.10105A>G	NM_000059.3	NP_000050.2:p.(Thr3369Ala)	NC_000013.10:g.32972755A>G	(Likely) benign	1 lab	f6f43d8b46
10:55826523 PCDH15 T>G	10	55826523	55826523	T	G	PCDH15				NC_000010.10:g.55826523T>G	VUS	1 lab	f6f5d74d0f
15:89876827 POLGARF TTGCTGCTGCTGC>T	15	89876827	89876860	TTGCTGCTGCTGC	T	POLGARF	c.202_213del	NM_001430120.1	NP_001417049.1:p.(Ala68_Ala71del)	NC_000015.9:g.89876849_89876860del	VUS	1 lab	f6f608016d
17:73279533 SLC25A19 TG>T	17	73279533	73279534	TG	T	SLC25A19	c.429del	NM_001126121.2	NP_001119593.1:p.(Thr144ProfsTer39)	NC_000017.10:g.73279534del	VUS	1 lab	f6f9b893e5
2:88926644 EIF2AK3 G>A	2	88926644	88926644	G	A	EIF2AK3	c.149C>T	NM_004836.6	NP_004827.4:p.(Ala50Val)	NC_000002.11:g.88926644G>A	(Likely) benign	1 lab	f6faa9dbe1
1:24495932 IFNLR1 G>A	1	24495932	24495932	G	A	IFNLR1	c.342C>T	NM_170743.4	NP_734464.1:p.(Ser114=)	NC_000001.10:g.24495932G>A	(Likely) benign	1 lab	f6fe8fcc89
X:77112339 MAGT1 C>T	X	77112339	77112339	C	T	MAGT1	c.563G>A	NM_001367916.1	NP_001354845.1:p.(Gly188Asp)	NC_000023.10:g.77112339C>T	VUS	1 lab	f70041c5ea
19:9076570 MUC16 C>G	19	9076570	9076570	C	G	MUC16	c.10876G>C	NM_024690.2	NP_078966.2:p.(Asp3626His)	NC_000019.9:g.9076570C>G	(Likely) benign	1 lab	f700f338f4
1:216420039 USH2A C>T	1	216420039	216420039	C	T	USH2A	c.2697G>A	NM_206933.2	NP_996816.2:p.(Met899Ile)	NC_000001.10:g.216420039C>T	(Likely) benign	1 lab	f70239aed8
4:187509755 FAT1 C>G	4	187509755	187509755	C	G	FAT1	c.13758G>C	NM_005245.3	NP_005236.2:p.(Thr4586=)	NC_000004.11:g.187509755C>G	(Likely) benign	1 lab	f7029a498f
11:118343936 KMT2A T>G	11	118343936	118343936	T	G	KMT2A	c.2062T>G	NM_001197104.1	NP_001184033.1:p.(Phe688Val)	NC_000011.9:g.118343936T>G	VUS	1 lab	f70363a68a
10:95415508 PDE6C A>G	10	95415508	95415508	A	G	PDE6C	c.1936-9A>G	NM_006204.3	NP_006195.3:p.?	NC_000010.10:g.95415508A>G	(Likely) benign	1 lab	f705eaa378
22:38130672 TRIOBP A>G	22	38130672	38130672	A	G	TRIOBP	c.4329A>G	NM_001039141.2	NP_001034230.1:p.(Leu1443=)	NC_000022.10:g.38130672A>G	(Likely) benign	1 lab	f707d2076b
2:80530771 LRRTM1 G>A	2	80530771	80530771	G	A	LRRTM1	c.174C>T	NM_178839.5	NP_849161.2:p.(Thr58=)	NC_000002.11:g.80530771G>A	(Likely) benign	1 lab	f709052a56
3:25679735 TOP2B C>T	3	25679735	25679735	C	T	TOP2B	c.462G>A	NM_001330700.1	NP_001317629.1:p.(Glu154=)	NC_000003.11:g.25679735C>T	(Likely) benign	1 lab	f70bacf68f
X:129205031 ELF4 T>C	X	129205031	129205031	T	C	ELF4	c.793A>G	NM_001421.3	NP_001412.1:p.(Met265Val)	NC_000023.10:g.129205031T>C	VUS	1 lab	f70cac7527
22:42032607 XRCC6 A>G	22	42032607	42032607	A	G	XRCC6	c.422A>G	NM_001469.4	NP_001460.1:p.(Tyr141Cys)	NC_000022.10:g.42032607A>G	VUS	1 lab	f70cbda4e5
X:76939591 ATRX G>A	X	76939591	76939591	G	A	ATRX	c.1157C>T	NM_000489.5	NP_000480.3:p.(Ala386Val)	NC_000023.10:g.76939591G>A	(Likely) benign	1 lab	f70dfa77a6
12:122287700 HPD C>T	12	122287700	122287700	C	T	HPD	c.298-4G>A	NM_001171993.1	NP_001165464.1:p.?	NC_000012.11:g.122287700C>T	(Likely) benign	1 lab	f70ed62f04
20:62324548 RTEL1 T>C	20	62324548	62324548	T	C	RTEL1	c.2904T>C	NM_001283009.1	NP_001269938.1:p.(Cys968=)	NC_000020.10:g.62324548T>C	(Likely) benign	1 lab	f70fc6f932
X:128722154 OCRL A>G	X	128722154	128722154	A	G	OCRL	c.2257-2A>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128722154A>G	(Likely) pathogenic	1 lab	f711d75d04
1:150526507 ADAMTSL4 A>G	1	150526507	150526507	A	G	ADAMTSL4	c.1040A>G	NM_001288608.1	NP_001275537.1:p.(His347Arg)	NC_000001.10:g.150526507A>G	VUS	1 lab	f7121356fb
12:126139070 TMEM132B G>A	12	126139070	126139070	G	A	TMEM132B	c.3066G>A	NM_001366854.1	NP_001353783.1:p.(Ser1022=)	NC_000012.11:g.126139070G>A	(Likely) benign	1 lab	f71362ed05
6:75833977 COL12A1 C>T	6	75833977	75833977	C	T	COL12A1	c.6718G>A	NM_004370.5	NP_004361.3:p.(Ala2240Thr)	NC_000006.11:g.75833977C>T	(Likely) benign	1 lab	f713f867a8
X:9693819 GPR143 A>G	X	9693819	9693819	A	G	GPR143	c.1182T>C	NM_000273.2	NP_000264.2:p.(Gly394=)	NC_000023.10:g.9693819A>G	(Likely) benign	1 lab	f71448acc4
2:179478837 TTN G>A	2	179478837	179478837	G	A	TTN	c.49287C>T	NM_001267550.1	NP_001254479.1:p.(Asn16429=)	NC_000002.11:g.179478837G>A	(Likely) benign	1 lab	f716e565bf
X:104984617 IL1RAPL2 G>A	X	104984617	104984617	G	A	IL1RAPL2	c.981G>A	NM_017416.1	NP_059112.1:p.(Ala327=)	NC_000023.10:g.104984617G>A	(Likely) benign	1 lab	f717c556c8
2:54197864 PSME4 C>T	2	54197864	54197864	C	T	PSME4	c.58G>A	NM_014614.3	NP_055429.2:p.(Glu20Lys)	NC_000002.11:g.54197864C>T	(Likely) benign	1 lab	f717ef1cee
2:179466538 TTN T>C	2	179466538	179466538	T	C	TTN	c.55303-24A>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179466538T>C	(Likely) benign	1 lab	f7181e11dd
1:147380184 GJA8 C>T	1	147380184	147380184	C	T	GJA8	c.102C>T	NM_005267.4	NP_005258.2:p.(Ile34=)	NC_000001.10:g.147380184C>T	(Likely) benign	1 lab	f718af1970
4:123536899 IL21 T>C	4	123536899	123536899	T	C	IL21	c.298A>G	NM_001207006.2	NP_001193935.1:p.(Ile100Val)	NC_000004.11:g.123536899T>C	(Likely) benign	1 lab	f719bc3ffe
11:68171848 LRP5 G>A	11	68171848	68171848	G	A	LRP5	c.22G>A	NM_001291902.1	NP_001278831.1:p.(Asp8Asn)	NC_000011.9:g.68171848G>A	VUS	1 lab	f71afa6532
17:37822319 TCAP G>A	17	37822319	37822319	G	A	TCAP	c.461G>A	NM_003673.3	NP_003664.1:p.(Arg154His)	NC_000017.10:g.37822319G>A	VUS	1 lab	f71b7723af
5:127626563 FBN2 G>T	5	127626563	127626563	G	T	FBN2	c.6306C>A	NM_001999.3	NP_001990.2:p.(Ser2102Arg)	NC_000005.9:g.127626563G>T	VUS	1 lab	f71d7ffeaa
4:184020777 WWC2 TGGGCGCCGGCCGCGG>T	4	184020777	184020798	TGGGCGCCGGCCGCGG	T	WWC2	c.131+9_131+23del	NM_024949.6	NP_079225.5:p.?	NC_000004.11:g.184020784_184020798del	(Likely) benign	1 lab	f72199544d
4:15060149 CPEB2 A>G	4	15060149	15060149	A	G	CPEB2	c.2566A>G	NM_001177382.1	NP_001170853.1:p.(Ile856Val)	NC_000004.11:g.15060149A>G	(Likely) benign	1 lab	f7229d62d0
7:51097131 COBL C>T	7	51097131	51097131	C	T	COBL	c.1833G>A	NM_001287436.2	NP_001274365.1:p.(Ser611=)	NC_000007.13:g.51097131C>T	(Likely) benign	1 lab	f722e3d6d2
7:21744047 DNAH11 T>C	7	21744047	21744047	T	C	DNAH11				NC_000007.13:g.21744047T>C	(Likely) benign	1 lab	f7233bd8ee
X:111025199 TRPC5 G>A	X	111025199	111025199	G	A	TRPC5	c.2064C>T	NM_012471.2	NP_036603.1:p.(Asp688=)	NC_000023.10:g.111025199G>A	(Likely) benign	1 lab	f723c03bb2
17:76120081 TMC6 G>A	17	76120081	76120081	G	A	TMC6	c.1071C>T	NM_001127198.2	NP_001120670.1:p.(Thr357=)	NC_000017.10:g.76120081G>A	(Likely) benign	1 lab	f725701a8b
5:14378137 TRIO C>T	5	14378137	14378137	C	T	TRIO	c.3348C>T	NM_007118.3	NP_009049.2:p.(Leu1116=)	NC_000005.9:g.14378137C>T	(Likely) benign	1 lab	f727cd0d29
18:14105212 ZNF519 T>A	18	14105212	14105212	T	A	ZNF519	c.1327A>T	NM_145287.3	NP_660330.2:p.(Arg443Trp)	NC_000018.9:g.14105212T>A	(Likely) benign	1 lab	f72a0d1d58
17:62029126 SCN4A C>T	17	62029126	62029126	C	T	SCN4A	c.2511G>A	NM_000334.4	NP_000325.4:p.(Lys837=)	NC_000017.10:g.62029126C>T	(Likely) benign	1 lab	f72a16553e
1:207643432 CR2 C>G	1	207643432	207643432	C	G	CR2	c.1210C>G	NM_001006658.2	NP_001006659.1:p.(Pro404Ala)	NC_000001.10:g.207643432C>G	VUS	1 lab	f72a9553d0
1:46532758 PIK3R3 C>T	1	46532758	46532758	C	T	PIK3R3	c.320G>A	NM_003629.4	NP_003620.3:p.(Gly107Glu)	NC_000001.10:g.46532758C>T	VUS	1 lab	f72ae6d3fa
13:103718287 SLC10A2 A>G	13	103718287	103718287	A	G	SLC10A2	c.313T>C	NM_000452.2	NP_000443.1:p.(Cys105Arg)	NC_000013.10:g.103718287A>G	VUS	1 lab	f72b09b0d9
1:45479388 UROD TGT>CCA	1	45479388	45479390	TGT	CCA	UROD	c.399_401delinsCCA	NM_000374.5	NP_000365.3:p.(Val134Gln)	NC_000001.10:g.45479388_45479390delinsCCA	(Likely) pathogenic	1 lab	f72b518b1e
17:12666503 MYOCD C>A	17	12666503	12666503	C	A	MYOCD	c.2503C>A	NM_001146312.2	NP_001139784.1:p.(Gln835Lys)	NC_000017.10:g.12666503C>A	VUS	1 lab	f72c5ae5d3
16:2121544 TSC2 TCA>T	16	2121544	2121547	TCA	T	TSC2	c.1875_1876del	NM_000548.5	NP_000539.2:p.(Leu626AlafsTer30)	NC_000016.9:g.2121546_2121547del	(Likely) pathogenic	1 lab	f72cd05c92
20:10622196 JAG1 G>A	20	10622196	10622196	G	A	JAG1	c.2828C>T	NM_000214.3	NP_000205.1:p.(Pro943Leu)	NC_000020.10:g.10622196G>A	VUS	1 lab	f72da1105f
7:98546191 TRRAP G>A	7	98546191	98546191	G	A	TRRAP	c.4650G>A	NM_001244580.1	NP_001231509.1:p.(Ala1550=)	NC_000007.13:g.98546191G>A	(Likely) benign	1 lab	f72de4ab0d
10:75860751 VCL C>T	10	75860751	75860751	C	T	VCL	c.1918C>T	NM_014000.2	NP_054706.1:p.(Leu640Phe)	NC_000010.10:g.75860751C>T	VUS	1 lab	f72e3cbc99
17:29657448 NF1 T>C	17	29657448	29657448	T	C	NF1	c.5681T>C	NM_000267.3	NP_000258.1:p.(Leu1894Pro)	NC_000017.10:g.29657448T>C	(Likely) pathogenic	1 lab	f72f5874e4
18:6964718 LAMA1 T>A	18	6964718	6964718	T	A	LAMA1	c.7280A>T	NM_005559.3	NP_005550.2:p.(Asn2427Ile)	NC_000018.9:g.6964718T>A	VUS	1 lab	f72f718a12
9:117788868 TNC C>A	9	117788868	117788868	C	A	TNC	c.6276G>T	NM_002160.3	NP_002151.2:p.(Val2092=)	NC_000009.11:g.117788868C>A	(Likely) benign	1 lab	f731c9b8d6
X:1546717 ASMTL C>T	X	1546717	1546717	C	T	ASMTL	c.807G>A	NM_004192.3	NP_004183.2:p.(Thr269=)	NC_000023.10:g.1546717C>T	(Likely) benign	1 lab	f731db64ec
10:16867011 CUBN C>T	10	16867011	16867011	C	T	CUBN	c.10835G>A	NM_001081.3	NP_001072.2:p.(Arg3612Gln)	NC_000010.10:g.16867011C>T	(Likely) benign	1 lab	f736cf1d0a
X:1404725 CSF2RA C>T	X	1404725	1404725	C	T	CSF2RA	c.131C>T	NM_001161529.1	NP_001155001.1:p.(Thr44Met)	NC_000023.10:g.1404725C>T	VUS	1 lab	f737532b96
7:91936896 ANKIB1 A>G	7	91936896	91936896	A	G	ANKIB1	c.412A>G	NM_019004.2	NP_061877.1:p.(Ile138Val)	NC_000007.13:g.91936896A>G	(Likely) benign	1 lab	f7391b8ab1
4:13545965 NKX3-2 C>T	4	13545965	13545965	C	T	NKX3-2	c.74G>A	NM_001189.3	NP_001180.1:p.(Gly25Asp)	NC_000004.11:g.13545965C>T	(Likely) benign	1 lab	f73a5feac0
2:234676568 UGT1A1 A>G	2	234676568	234676568	A	G	UGT1A1	c.1070A>G	NM_000463.2	NP_000454.1:p.(Gln357Arg)	NC_000002.11:g.234676568A>G	(Likely) pathogenic	1 lab	f73bcf9009
X:48838075 GRIPAP1 C>T	X	48838075	48838075	C	T	GRIPAP1	c.1706G>A	NM_020137.4	NP_064522.3:p.(Arg569Gln)	NC_000023.10:g.48838075C>T	(Likely) benign	1 lab	f73d4778fc
16:50826576 CYLD TC>T	16	50826576	50826578	TC	T	CYLD	c.2312del	NM_001378743.1	NP_001365672.1:p.(Pro771LeufsTer5)	NC_000016.9:g.50826578del	(Likely) pathogenic	1 lab	f73d7a50c4
10:101578867 ABCC2 A>G	10	101578867	101578867	A	G	ABCC2	c.2461A>G	NM_000392.5	NP_000383.2:p.(Ser821Gly)	NC_000010.10:g.101578867A>G	(Likely) benign	1 lab	f73efaad11
11:121008231 TECTA G>A	11	121008231	121008231	G	A	TECTA				NC_000011.9:g.121008231G>A	VUS	1 lab	3bc0646f70
18:32431840 DTNA G>A	18	32431840	32431840	G	A	DTNA	c.1399G>A	NM_001390.4	NP_001381.2:p.(Asp467Asn)	NC_000018.9:g.32431840G>A	VUS	1 lab	f741e6812b
1:224804891 CNIH3 C>A	1	224804891	224804891	C	A	CNIH3	c.15C>A	NM_152495.2	NP_689708.1:p.(Phe5Leu)	NC_000001.10:g.224804891C>A	VUS	1 lab	f742744023
2:112779859 MERTK G>A	2	112779859	112779859	G	A	MERTK	c.2374G>A	NM_006343.2	NP_006334.2:p.(Glu792Lys)	NC_000002.11:g.112779859G>A	VUS	1 lab	f745967be1
17:73513008 TSEN54 C>T	17	73513008	73513008	C	T	TSEN54	c.221+17C>T	NM_207346.2	NP_997229.2:p.?	NC_000017.10:g.73513008C>T	(Likely) benign	1 lab	f745cc985a
14:64749340 ESR2 A>G	14	64749340	64749340	A	G	ESR2	c.362+2T>C	NM_001291712.1	NP_001278641.1:p.?	NC_000014.8:g.64749340A>G	VUS	1 lab	f746639420
5:154393691 KIF4B G>A	5	154393691	154393691	G	A	KIF4B	c.272G>A	NM_001099293.2	NP_001092763.1:p.(Gly91Asp)	NC_000005.9:g.154393691G>A	VUS	1 lab	f74a32a08b
16:49669908 ZNF423 G>A	16	49669908	49669908	G	A	ZNF423	c.2975C>T	NM_001271620.2	NP_001258549.1:p.(Ala992Val)	NC_000016.9:g.49669908G>A	VUS	1 lab	f74a6b13e0
21:44485581 LOC102724560 A>G	21	44485581	44485581	A	G	LOC102724560	c.582T>C	NM_001354006.1	NP_001340935.1:p.(Asn194=)	NC_000021.8:g.44485581A>G	(Likely) benign	1 lab	f74d13a162
4:36318073 DTHD1 T>C	4	36318073	36318073	T	C	DTHD1	c.1930T>C	NM_001170700.2	NP_001164171.1:p.(Leu644=)	NC_000004.11:g.36318073T>C	(Likely) benign	1 lab	f74e298a77
4:79460535 FRAS1 G>T	4	79460535	79460535	G	T	FRAS1	c.11386G>T	NM_025074.7	NP_079350.5:p.(Val3796Leu)	NC_000004.11:g.79460535G>T	VUS	1 lab	f74e71f746
16:50826538 CYLD C>T	16	50826538	50826538	C	T	CYLD	c.2272C>T	NM_015247.2	NP_056062.1:p.(Arg758Ter)	NC_000016.9:g.50826538C>T	(Likely) pathogenic	1 lab	f7514ac60f
X:55172537 VCF2 G>A	X	55172537	55172537	G	A	VCF2	c.325C>T	NM_001166703.1	NP_001160175.1:p.(Arg109Ter)	NC_000023.10:g.55172537G>A	(Likely) benign	1 lab	f752417223
15:43697403 TUBGCP4 C>T	15	43697403	43697403	C	T	TUBGCP4	c.1995C>T	NM_001286414.2	NP_001273343.1:p.(Phe665=)	NC_000015.9:g.43697403C>T	(Likely) benign	1 lab	f75611431f
18:7046295 LAMA1 T>C	18	7046295	7046295	T	C	LAMA1	c.840A>G	NM_005559.3	NP_005550.2:p.(Pro280=)	NC_000018.9:g.7046295T>C	(Likely) benign	1 lab	f7596e85f2
22:39928529 RPS19BP1 C>T	22	39928529	39928529	C	T	RPS19BP1	c.53-1G>A	NM_194326.4	NP_919307.1:p.?	NC_000022.10:g.39928529C>T	VUS	1 lab	f75d00dc8a
X:102004488 ARMCX5-GPRASP2 A>C	X	102004488	102004488	A	C	ARMCX5-GPRASP2	c.565A>C	NM_001350268.1	NP_001337197.1:p.(Asn189His)	NC_000023.10:g.102004488A>C	VUS	1 lab	f75dd3e1ec
X:99662798 PCDH19 G>A	X	99662798	99662798	G	A	PCDH19	c.798C>T	NM_001184880.1	NP_001171809.1:p.(Asp266=)	NC_000023.10:g.99662798G>A	(Likely) benign	1 lab	f761d270ca
1:91845709 HFM1 A>G	1	91845709	91845709	A	G	HFM1	c.958T>C	NM_001017975.4	NP_001017975.4:p.(Leu320=)	NC_000001.10:g.91845709A>G	(Likely) benign	1 lab	f7620505a3
X:49083519 CACNA1F T>C	X	49083519	49083519	T	C	CACNA1F	c.1189A>G	NM_005183.3	NP_005174.2:p.(Met397Val)	NC_000023.10:g.49083519T>C	VUS	1 lab	f763c02de0
X:77112291 MAGT1 T>C	X	77112291	77112291	T	C	MAGT1	c.611A>G	NM_001367916.1	NP_001354845.1:p.(Tyr204Cys)	NC_000023.10:g.77112291T>C	VUS	1 lab	f76402c9d4
21:46876530 COL18A1 C>T	21	46876530	46876530	C	T	COL18A1	c.1086C>T	NM_130444.3	NP_569711.2:p.(Ser362=)	NC_000021.8:g.46876530C>T	(Likely) benign	1 lab	f767e2f5a4
7:130061829 CEP41 G>A	7	130061829	130061829	G	A	CEP41	c.117C>T	NM_001257160.1	NP_001244089.1:p.(Thr39=)	NC_000007.13:g.130061829G>A	(Likely) benign	1 lab	f76827e369
16:2546766 TBC1D24 TGCAGGTCTATGCGGACTG>T	16	2546766	2546788	TGCAGGTCTATGCGGACTG	T	TBC1D24	c.622_639del	NM_001199107.2	NP_001186036.1:p.(Val208_Gln213del)	NC_000016.9:g.2546771_2546788del	VUS	1 lab	f76c0fa714
2:202070680 CASP10 C>T	2	202070680	202070680	C	T	CASP10	c.797C>T	NM_032977.3	NP_116759.2:p.(Ser266Phe)	NC_000002.11:g.202070680C>T	(Likely) benign	1 lab	f76d0993d4
7:151269740 PRKAG2 T>C	7	151269740	151269740	T	C	PRKAG2	c.1051+10A>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151269740T>C	(Likely) benign	1 lab	f76d71d482
X:53654350 HUWE1 CTG>C	X	53654350	53654353	CTG	C	HUWE1	c.1489+9_1489+10del	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53654352_53654353del	(Likely) benign	1 lab	f76f472a35
11:3050232 CARS1 C>A	11	3050232	3050232	C	A	CARS1	c.1025G>T	NM_001194997.1	NP_001181926.1:p.(Gly342Val)	NC_000011.9:g.3050232C>A	VUS	1 lab	f76f787517
5:176637695 NSD1 C>T	5	176637695	176637695	C	T	NSD1	c.2295C>T	NM_022455.4	NP_071900.2:p.(Asn765=)	NC_000005.9:g.176637695C>T	(Likely) benign	1 lab	f7704af855
1:33235890 NHSL3 C>T	1	33235890	33235890	C	T	NHSL3	c.1110C>T	NM_020888.3	NP_065939.2:p.(Gly370=)	NC_000001.10:g.33235890C>T	(Likely) benign	1 lab	f7717750f2
X:129201025 ELF4 G>A	X	129201025	129201025	G	A	ELF4	c.1663C>T	NM_001421.3	NP_001412.1:p.(Pro555Ser)	NC_000023.10:g.129201025G>A	VUS	1 lab	f771dc38d7
18:77488910 CTDP1 G>A	18	77488910	77488910	G	A	CTDP1	c.2421G>A	NM_004715.4	NP_004706.3:p.(Ala807=)	NC_000018.9:g.77488910G>A	(Likely) benign	1 lab	f774e74221
5:70858250 BDP1 A>G	5	70858250	70858250	A	G	BDP1	c.7646A>G	NM_018429.2	NP_060899.2:p.(Asn2549Ser)	NC_000005.9:g.70858250A>G	(Likely) benign	1 lab	f778961f99
8:144400257 TOP1MT C>G	8	144400257	144400257	C	G	TOP1MT	c.853-1G>C	NM_001258446.1	NP_001245375.1:p.?	NC_000008.10:g.144400257C>G	VUS	1 lab	f77aa79a43
7:74197316 NCF1 C>T	7	74197316	74197316	C	T	NCF1	c.486C>T	NM_000265.5	NP_000256.4:p.(Arg162=)	NC_000007.13:g.74197316C>T	(Likely) benign	1 lab	f77f572af7
X:47028840 RBM10 T>C	X	47028840	47028840	T	C	RBM10	c.339T>C	NM_001204468.1	NP_001191397.1:p.(Tyr113=)	NC_000023.10:g.47028840T>C	(Likely) benign	1 lab	f77fbb31fb
1:39776050 MACF1 T>G	1	39776050	39776050	T	G	MACF1	c.3065T>G	NM_012090.5	NP_036222.3:p.(Val1022Gly)	NC_000001.10:g.39776050T>G	VUS	1 lab	f7809f25f9
1:197074067 ASPM T>C	1	197074067	197074067	T	C	ASPM	c.4314A>G	NM_018136.4	NP_060606.3:p.(Lys1438=)	NC_000001.10:g.197074067T>C	(Likely) benign	1 lab	f78231b9a2
18:6971867 LAMA1 C>T	18	6971867	6971867	C	T	LAMA1	c.6888G>A	NM_005559.3	NP_005550.2:p.(Gly2296=)	NC_000018.9:g.6971867C>T	(Likely) benign	1 lab	f782a121d7
X:125955343 PRR32 G>T	X	125955343	125955343	G	T	PRR32	c.722G>T	NM_001122716.1	NP_001116188.1:p.(Cys241Phe)	NC_000023.10:g.125955343G>T	(Likely) benign	1 lab	f78353d550
16:50828274 CYLD CTTTTG>C	16	50828274	50828280	CTTTTG	C	CYLD	c.2623_2627del	NM_001378743.1	NP_001365672.1:p.(Phe875GlufsTer13)	NC_000016.9:g.50828276_50828280del	(Likely) pathogenic	1 lab	f784705486
8:145698742 KIFC2 T>C	8	145698742	145698742	T	C	KIFC2	c.2426T>C	NM_145754.3	NP_665697.1:p.(Leu809Pro)	NC_000008.10:g.145698742T>C	(Likely) benign	1 lab	f78795159b
9:376211 DOCK8 A>G	9	376211	376211	A	G	DOCK8	c.2111A>G	NM_203447.3	NP_982272.2:p.(Lys704Arg)	NC_000009.11:g.376211A>G	VUS	1 lab	f78810ec02
17:73923597 FBF1 G>T	17	73923597	73923597	G	T	FBF1	c.414C>A	NM_001319193.1	NP_001306122.1:p.(Thr138=)	NC_000017.10:g.73923597G>T	(Likely) benign	1 lab	f78856fc8e
X:140969356 MAGEC3 A>G	X	140969356	140969356	A	G	MAGEC3	c.683A>G	NM_138702.1	NP_619647.1:p.(Lys228Arg)	NC_000023.10:g.140969356A>G	(Likely) benign	1 lab	f78af8fd72
17:48431466 XYLT2 G>A	17	48431466	48431466	G	A	XYLT2	c.611G>A	NM_022167.3	NP_071450.2:p.(Arg204Gln)	NC_000017.10:g.48431466G>A	VUS	1 lab	f78b6b0d9c
9:79867227 VPS13A ACTGT>A	9	79867227	79867233	ACTGT	A	VPS13A	c.2250_2253del	NM_033305.3	NP_150648.2:p.(Ser751ArgfsTer8)	NC_000009.11:g.79867230_79867233del	(Likely) pathogenic	1 lab	f792523c74
11:70858322 SHANK2 G>A	11	70858322	70858322	G	A	SHANK2	c.51C>T	NM_012309.4	NP_036441.2:p.(Ser17=)	NC_000011.9:g.70858322G>A	(Likely) benign	1 lab	f792b5f5e9
18:6964753 LAMA1 C>T	18	6964753	6964753	C	T	LAMA1	c.7245G>A	NM_005559.3	NP_005550.2:p.(Lys2415=)	NC_000018.9:g.6964753C>T	(Likely) benign	1 lab	f79331d90d
2:210559974 MAP2 A>G	2	210559974	210559974	A	G	MAP2	c.3080A>G	NM_002374.3	NP_002365.3:p.(Glu1027Gly)	NC_000002.11:g.210559974A>G	(Likely) benign	1 lab	f7942c36cb
16:53671754 RPGRIP1L C>T	16	53671754	53671754	C	T	RPGRIP1L	c.3073G>A	NM_015272.4	NP_056087.2:p.(Gly1025Ser)	NC_000016.9:g.53671754C>T	(Likely) benign	1 lab	f79552b2cf
16:57695724 ADGRG1 C>T	16	57695724	57695724	C	T	ADGRG1	c.1798C>T	NM_005682.6	NP_005673.3:p.(Arg600Cys)	NC_000016.9:g.57695724C>T	(Likely) pathogenic	1 lab	f796493355
4:25831752 SEL1L3 C>T	4	25831752	25831752	C	T	SEL1L3	c.1125G>A	NM_015187.5	NP_056002.2:p.(Gln375=)	NC_000004.11:g.25831752C>T	(Likely) benign	1 lab	f79863e69b
11:117232615 CEP164 T>C	11	117232615	117232615	T	C	CEP164	c.458T>C	NM_014956.4	NP_055771.4:p.(Leu153Pro)	NC_000011.9:g.117232615T>C	VUS	1 lab	f7988e712c
2:68882318 PROKR1 C>G	2	68882318	68882318	C	G	PROKR1	c.792C>G	NM_138964.3	NP_620414.1:p.(Val264=)	NC_000002.11:g.68882318C>G	(Likely) benign	1 lab	f798a4361f
X:135764104 ARHGEF6 C>T	X	135764104	135764104	C	T	ARHGEF6	c.1503G>A	NM_004840.2	NP_004831.1:p.(Thr501=)	NC_000023.10:g.135764104C>T	(Likely) benign	1 lab	f79905aed8
2:179421844 TTN T>G	2	179421844	179421844	T	G	TTN	c.88037A>C	NM_001267550.1	NP_001254479.1:p.(Asp29346Ala)	NC_000002.11:g.179421844T>G	VUS	1 lab	f79aedbdd5
3:33055607 GLB1 G>A	3	33055607	33055607	G	A	GLB1	c.1819C>T	NM_001317040.1	NP_001303969.1:p.(Pro607Ser)	NC_000003.11:g.33055607G>A	(Likely) benign	1 lab	f79bdb3d20
X:71130964 NHSL2 A>AC	X	71130964	71130968	A	AC	NHSL2	c.31dup	NM_001013627.2	NP_001013649.2:p.(Gln11ProfsTer87)	NC_000023.10:g.71130968dup	VUS	1 lab	f79f87218c
1:204926830 NFASC C>T	1	204926830	204926830	C	T	NFASC	c.582C>T	NM_001005388.2	NP_001005388.2:p.(Asn194=)	NC_000001.10:g.204926830C>T	(Likely) benign	1 lab	f7a019626e
14:104643211 KIF26A G>C	14	104643211	104643211	G	C	KIF26A	c.4086G>C	NM_015656.1	NP_056471.1:p.(Pro1362=)	NC_000014.8:g.104643211G>C	(Likely) benign	1 lab	f7a0fe206e
X:153052559 IDH3G G>A	X	153052559	153052559	G	A	IDH3G	c.724C>T	NM_174869.2	NP_777358.1:p.(Arg242Cys)	NC_000023.10:g.153052559G>A	VUS	1 lab	f7a1bc6662
17:29559088 NF1 C>A	17	29559088	29559088	C	A	NF1	c.3198-3C>A	NM_001042492.2	NP_001035957.1:p.?	NC_000017.10:g.29559088C>A	(Likely) pathogenic	1 lab	f7a22265e1
21:47864752 PCNT C>T	21	47864752	47864752	C	T	PCNT	c.9967+18C>T	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47864752C>T	(Likely) benign	1 lab	f7a34ba6d3
X:39932955 BCOR G>A	X	39932955	39932955	G	A	BCOR	c.1644C>T	NM_001123385.1	NP_001116857.1:p.(Gly548=)	NC_000023.10:g.39932955G>A	(Likely) benign	1 lab	f7a5b3cad8
X:73960740 NEXMIF G>A	X	73960740	73960740	G	A	NEXMIF	c.3652C>T	NM_001008537.2	NP_001008537.1:p.(Gln1218Ter)	NC_000023.10:g.73960740G>A	(Likely) pathogenic	1 lab	f7a7377904
1:150530958 ADAMTSL4 C>T	1	150530958	150530958	C	T	ADAMTSL4	c.2461C>T	NM_001288608.1	NP_001275537.1:p.(Arg821Trp)	NC_000001.10:g.150530958C>T	VUS	1 lab	f7a7675330
X:49068373 CACNA1F A>G	X	49068373	49068373	A	G	CACNA1F	c.4118T>C	NM_005183.3	NP_005174.2:p.(Val1373Ala)	NC_000023.10:g.49068373A>G	(Likely) benign	1 lab	f7a80cb85f
5:37183786 CPLANE1 G>C	5	37183786	37183786	G	C	CPLANE1	c.4497C>G	NM_023073.3	NP_075561.3:p.(His1499Gln)	NC_000005.9:g.37183786G>C	VUS	1 lab	f7aa85d434
22:38122330 TRIOBP C>T	22	38122330	38122330	C	T	TRIOBP	c.3767C>T	NM_001039141.2	NP_001034230.1:p.(Ala1256Val)	NC_000022.10:g.38122330C>T	VUS	1 lab	f7aba36e56
1:161137843 PPOX G>T	1	161137843	161137843	G	T	PPOX	c.397G>T	NM_000309.4	NP_000300.1:p.(Glu133Ter)	NC_000001.10:g.161137843G>T	(Likely) pathogenic	1 lab	f7abbefbbb
19:48048986 ZNF541 G>A	19	48048986	48048986	G	A	ZNF541	c.800C>T	NM_001277075.2	NP_001264004.1:p.(Ser267Phe)	NC_000019.9:g.48048986G>A	VUS	1 lab	f7ac987f8c
20:2775033 CPXM1 T>C	20	2775033	2775033	T	C	CPXM1	c.2008A>G	NM_019609.5	NP_062555.1:p.(Met670Val)	NC_000020.10:g.2775033T>C	(Likely) benign	1 lab	f7ad33bc6e
11:76908634 MYO7A A>C	11	76908634	76908634	A	C	MYO7A	c.4432A>C	NM_000260.3	NP_000251.3:p.(Lys1478Gln)	NC_000011.9:g.76908634A>C	VUS	1 lab	f7af774c40
1:116269585 CASQ2 C>T	1	116269585	116269585	C	T	CASQ2	c.737+28G>A	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116269585C>T	(Likely) benign	1 lab	f7b087be12
5:140753671 PCDHGA6 T>G	5	140753671	140753671	T	G	PCDHGA6	c.21T>G	NM_018919.2	NP_061742.1:p.(His7Gln)	NC_000005.9:g.140753671T>G	(Likely) benign	1 lab	f7b2a1ca9f
X:96139797 RPA4 A>G	X	96139797	96139797	A	G	RPA4	c.488A>G	NM_013347.4	NP_037479.1:p.(Asn163Ser)	NC_000023.10:g.96139797A>G	(Likely) benign	1 lab	f7b4d636b2
8:10465790 RP1L1 C>A	8	10465790	10465790	C	A	RP1L1	c.5818G>T	NM_178857.5	NP_849188.4:p.(Ala1940Ser)	NC_000008.10:g.10465790C>A	VUS	1 lab	f7b679d6b2
10:73579291 PSAP G>A	10	73579291	73579291	G	A	PSAP	c.1290C>T	NM_001042465.2	NP_001035930.1:p.(Ser430=)	NC_000010.10:g.73579291G>A	(Likely) benign	1 lab	f7b6a0e1d1
14:24725270 TGM1 G>A	14	24725270	24725270	G	A	TGM1	c.1416C>T	NM_000359.2	NP_000350.1:p.(Cys472=)	NC_000014.8:g.24725270G>A	(Likely) benign	1 lab	f7b94245cf
1:236445047 ERO1B C>G	1	236445047	236445047	C	G	ERO1B	c.37G>C	NM_019891.3	NP_063944.3:p.(Gly13Arg)	NC_000001.10:g.236445047C>G	VUS	1 lab	f7b9c84acf
16:2138047 TSC2 A>G	16	2138047	2138047	A	G	TSC2	c.5069-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138047A>G	(Likely) pathogenic	1 lab	f7b9dbca7b
6:31996258 C4B G>A	6	31996258	31996258	G	A	C4B	c.3179G>A	NM_001002029.3	NP_001002029.3:p.(Arg1060Gln)	NC_000006.11:g.31996258G>A	(Likely) benign	1 lab	f7bafa0338
13:32915301 BRCA2 GA>G	13	32915301	32915306	GA	G	BRCA2	c.6814del	NM_000059.4	NP_000050.3:p.(Arg2272GlufsTer8)	NC_000013.10:g.32915306del	(Likely) pathogenic	1 lab	f7bb300b50
16:88501401 ZNF469 C>T	16	88501401	88501401	C	T	ZNF469				NC_000016.9:g.88501401C>T	(Likely) benign	1 lab	f7bb302965
19:39010064 RYR1 C>T	19	39010064	39010064	C	T	RYR1	c.10229C>T	NM_000540.2	NP_000531.2:p.(Pro3410Leu)	NC_000019.9:g.39010064C>T	VUS	1 lab	f7bc3e6c1b
1:237044117 MTR C>T	1	237044117	237044117	C	T	MTR	c.2657C>T	NM_000254.2	NP_000245.2:p.(Ala886Val)	NC_000001.10:g.237044117C>T	VUS	1 lab	f7bc9aef6c
22:45130934 PRR5 G>A	22	45130934	45130934	G	A	PRR5	c.652G>A	NM_001198721.1	NP_001185650.1:p.(Glu218Lys)	NC_000022.10:g.45130934G>A	(Likely) benign	1 lab	f7bd22ee06
2:51255307 NRXN1 G>T	2	51255307	51255307	G	T	NRXN1	c.105C>A	NM_001135659.2	NP_001129131.1:p.(Gly35=)	NC_000002.11:g.51255307G>T	(Likely) benign	1 lab	f7bdb65af3
8:94809396 TMEM67 T>G	8	94809396	94809396	T	G	TMEM67	c.1895T>G	NM_153704.5	NP_714915.3:p.(Ile632Ser)	NC_000008.10:g.94809396T>G	VUS	1 lab	f7be29fa49
16:81904375 PLCG2 C>T	16	81904375	81904375	C	T	PLCG2	c.565-82C>T	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81904375C>T	(Likely) benign	1 lab	1f2b960f25
6:159401902 RSPH3 C>T	6	159401902	159401902	C	T	RSPH3	c.1189G>A	NM_031924.5	NP_114130.3:p.(Ala397Thr)	NC_000006.11:g.159401902C>T	VUS	1 lab	f7bf5510cb
X:69479416 P2RY4 C>T	X	69479416	69479416	C	T	P2RY4	c.59G>A	NM_002565.3	NP_002556.1:p.(Ser20Asn)	NC_000023.10:g.69479416C>T	(Likely) benign	1 lab	f7c22b3abc
11:59609906 CBLIF A>T	11	59609906	59609906	A	T	CBLIF	c.511+10T>A	NM_005142.2	NP_005133.2:p.?	NC_000011.9:g.59609906A>T	(Likely) benign	1 lab	f7c2e15dff
14:105416219 AHNAK2 C>G	14	105416219	105416219	C	G	AHNAK2	c.5569G>C	NM_138420.3	NP_612429.2:p.(Val1857Leu)	NC_000014.8:g.105416219C>G	(Likely) benign	1 lab	f7c357c349
3:45565503 LARS2 C>T	3	45565503	45565503	C	T	LARS2	c.2307C>T	NM_015340.4	NP_056155.1:p.(Ser769=)	NC_000003.11:g.45565503C>T	(Likely) benign	1 lab	f7c5217c7d
X:57618654 ZXDB G>C	X	57618654	57618654	G	C	ZXDB	c.173G>C	NM_007157.3	NP_009088.1:p.(Arg58Pro)	NC_000023.10:g.57618654G>C	(Likely) benign	1 lab	f7c67e011b
X:53350319 IQSEC2 C>T	X	53350319	53350319	C	T	IQSEC2	c.3G>A	NM_001111125.2	NP_001104595.1:p.(Met1?)	NC_000023.10:g.53350319C>T	(Likely) pathogenic	1 lab	f7c7f5c7a9
12:124816882 NCOR2 C>T	12	124816882	124816882	C	T	NCOR2	c.6887G>A	NM_006312.5	NP_006303.4:p.(Arg2296Gln)	NC_000012.11:g.124816882C>T	VUS	1 lab	f7c9805401
5:131676255 SLC22A4 C>T	5	131676255	131676255	C	T	SLC22A4	c.1445-3C>T	NM_003059.3	NP_003050.2:p.?	NC_000005.9:g.131676255C>T	(Likely) benign	1 lab	f7c9db910f
2:113147622 RGPD8 C>T	2	113147622	113147622	C	T	RGPD8	c.2900G>A	NM_001164463.1	NP_001157935.1:p.(Ser967Asn)	NC_000002.11:g.113147622C>T	(Likely) benign	1 lab	f7c9f531a9
17:29653132 NF1 CT>C	17	29653132	29653133	CT	C	NF1	c.5131del	NM_001042492.3	NP_001035957.1:p.(Cys1711ValfsTer9)	NC_000017.10:g.29653133del	(Likely) pathogenic	1 lab	f7d34a2e10
X:78216457 P2RY10 G>A	X	78216457	78216457	G	A	P2RY10	c.440G>A	NM_014499.4	NP_055314.1:p.(Arg147Lys)	NC_000023.10:g.78216457G>A	VUS	1 lab	f7d4f466cc
X:138878459 ATP11C T>G	X	138878459	138878459	T	G	ATP11C	c.1188A>C	NM_173694.4	NP_775965.2:p.(Thr396=)	NC_000023.10:g.138878459T>G	(Likely) benign	1 lab	f7d50e117b
18:7044753 LAMA1 G>A	18	7044753	7044753	G	A	LAMA1	c.944C>T	NM_005559.3	NP_005550.2:p.(Pro315Leu)	NC_000018.9:g.7044753G>A	VUS	1 lab	f7d5747e68
2:136570242 LCT G>A	2	136570242	136570242	G	A	LCT	c.1992C>T	NM_002299.2	NP_002290.2:p.(Pro664=)	NC_000002.11:g.136570242G>A	(Likely) benign	1 lab	f7d6494dc9
6:152651599 SYNE1 G>A	6	152651599	152651599	G	A	SYNE1	c.14221C>T	NM_182961.3	NP_892006.3:p.(Arg4741Cys)	NC_000006.11:g.152651599G>A	VUS	1 lab	f7d87677d4
9:138585504 SOHLH1 C>G	9	138585504	138585504	C	G	SOHLH1	c.1103G>C	NM_001101677.1	NP_001095147.1:p.(Cys368Ser)	NC_000009.11:g.138585504C>G	(Likely) benign	1 lab	f7da853973
16:2136293 TSC2 C>T	16	2136293	2136293	C	T	TSC2	c.4762C>T	NM_000548.3	NP_000539.2:p.(Gln1588Ter)	NC_000016.9:g.2136293C>T	(Likely) pathogenic	1 lab	f7db54cab3
15:48738959 FBN1 G>A	15	48738959	48738959	G	A	FBN1	c.5732C>T	NM_000138.4	NP_000129.3:p.(Ser1911Phe)	NC_000015.9:g.48738959G>A	VUS	1 lab	f7db91b8ba
X:117959315 ZCCHC12 A>T	X	117959315	117959315	A	T	ZCCHC12	c.108A>T	NM_173798.3	NP_776159.1:p.(Ile36=)	NC_000023.10:g.117959315A>T	(Likely) benign	1 lab	f7dbd28858
4:128814964 PLK4 G>A	4	128814964	128814964	G	A	PLK4	c.2490G>A	NM_014264.4	NP_055079.3:p.(Glu830=)	NC_000004.11:g.128814964G>A	(Likely) benign	1 lab	f7dd7e8546
3:66434530 LRIG1 C>T	3	66434530	66434530	C	T	LRIG1	c.1956G>A	NM_015541.2	NP_056356.2:p.(Pro652=)	NC_000003.11:g.66434530C>T	(Likely) benign	1 lab	f7deb9b27f
15:62327196 VPS13C C>T	15	62327196	62327196	C	T	VPS13C	c.243G>A	NM_001018088.2	NP_001018098.1:p.(Ala81=)	NC_000015.9:g.62327196C>T	(Likely) benign	1 lab	f7dec23379
2:202052497 CASP10 A>C	2	202052497	202052497	A	C	CASP10	c.416A>C	NM_032977.3	NP_116759.2:p.(Lys139Thr)	NC_000002.11:g.202052497A>C	VUS	1 lab	f7def58c1d
18:72592993 ZNF407 C>T	18	72592993	72592993	C	T	ZNF407	c.5046C>T	NM_017757.2	NP_060227.2:p.(Gly1682=)	NC_000018.9:g.72592993C>T	(Likely) benign	1 lab	f7df324559
X:30268939 MAGEB1 G>T	X	30268939	30268939	G	T	MAGEB1	c.329G>T	NM_002363.4	NP_002354.2:p.(Trp110Leu)	NC_000023.10:g.30268939G>T	(Likely) benign	1 lab	f7e10c7717
19:42471425 ATP1A3 G>A	19	42471425	42471425	G	A	ATP1A3	c.3028C>T	NM_001256214.1	NP_001243143.1:p.(Leu1010Phe)	NC_000019.9:g.42471425G>A	(Likely) benign	1 lab	f7e1e39ef1
17:58236699 CA4 G>A	17	58236699	58236699	G	A	CA4	c.853G>A	NM_000717.4	NP_000708.1:p.(Gly285Arg)	NC_000017.10:g.58236699G>A	(Likely) benign	1 lab	f7e26958ac
20:4229332 ADRA1D C>T	20	4229332	4229332	C	T	ADRA1D	c.273G>A	NM_000678.3	NP_000669.1:p.(Val91=)	NC_000020.10:g.4229332C>T	VUS	1 lab	f7e284cfdd
5:36608593 SLC1A3 G>A	5	36608593	36608593	G	A	SLC1A3	c.68G>A	NM_004172.4	NP_004163.3:p.(Arg23His)	NC_000005.9:g.36608593G>A	VUS	1 lab	f7e30332d0
16:2105460 TSC2 T>C	16	2105460	2105460	T	C	TSC2	c.539T>C	NM_000548.3	NP_000539.2:p.(Leu180Pro)	NC_000016.9:g.2105460T>C	(Likely) pathogenic	1 lab	f7e366071e
19:42839202 MEGF8 C>T	19	42839202	42839202	C	T	MEGF8	c.574C>T	NM_001271938.2	NP_001258867.1:p.(Arg192Cys)	NC_000019.9:g.42839202C>T	VUS	1 lab	f7e50807e7
7:103293206 RELN C>G	7	103293206	103293206	C	G	RELN	c.1555G>C	NM_173054.2	NP_774959.1:p.(Val519Leu)	NC_000007.13:g.103293206C>G	VUS	1 lab	f7e5156a54
8:28574591 EXTL3 C>T	8	28574591	28574591	C	T	EXTL3	c.1015C>T	NM_001440.3	NP_001431.1:p.(Arg339Trp)	NC_000008.10:g.28574591C>T	(Likely) pathogenic	1 lab	f7e552c9d4
16:77353798 ADAMTS18 C>A	16	77353798	77353798	C	A	ADAMTS18	c.2480G>T	NM_199355.3	NP_955387.1:p.(Arg827Leu)	NC_000016.9:g.77353798C>A	(Likely) benign	1 lab	f7e57418ac
16:83949032 MLYCD A>G	16	83949032	83949032	A	G	MLYCD	c.1420A>G	NM_012213.2	NP_036345.2:p.(Ile474Val)	NC_000016.9:g.83949032A>G	(Likely) benign	1 lab	f7e5d77658
11:47359002 MYBPC3 C>T	11	47359002	47359002	C	T	MYBPC3	c.2542G>A	NM_000256.3	NP_000247.2:p.(Ala848Thr)	NC_000011.9:g.47359002C>T	VUS	1 lab	f7e811ea30
11:2189814 TH C>A	11	2189814	2189814	C	A	TH	c.487G>T	NM_199292.2	NP_954986.2:p.(Val163Leu)	NC_000011.9:g.2189814C>A	VUS	1 lab	f7e96eec45
6:111694114 REV3L T>C	6	111694114	111694114	T	C	REV3L	c.5210A>G	NM_001286431.1	NP_001273360.1:p.(Asn1737Ser)	NC_000006.11:g.111694114T>C	(Likely) benign	1 lab	f7ea3e28b8
X:153627745 RPL10 G>C	X	153627745	153627745	G	C	RPL10	c.82+8G>C	NM_001303625.1	NP_001290554.1:p.?	NC_000023.10:g.153627745G>C	(Likely) benign	1 lab	f7ea8b7869
12:1943855 LRTM2 G>C	12	1943855	1943855	G	C	LRTM2	c.1081G>C	NM_001163925.1	NP_001157397.1:p.(Glu361Gln)	NC_000012.11:g.1943855G>C	VUS	1 lab	f7ec09a085
19:35232920 ZNF181 A>G	19	35232920	35232920	A	G	ZNF181	c.1634A>G	NM_001029997.4	NP_001025168.2:p.(Asn545Ser)	NC_000019.9:g.35232920A>G	(Likely) benign	1 lab	f7eda46451
1:237863748 RYR2 G>T	1	237863748	237863748	G	T	RYR2	c.9348G>T	NM_001035.2	NP_001026.2:p.(Gln3116His)	NC_000001.10:g.237863748G>T	VUS	1 lab	f7eddcdb0f
13:114322300 GRK1 G>C	13	114322300	114322300	G	C	GRK1	c.599G>C	NM_002929.3	NP_002920.1:p.(Gly200Ala)	NC_000013.10:g.114322300G>C	VUS	1 lab	f7f0dc7810
4:122835991 TRPC3 C>T	4	122835991	122835991	C	T	TRPC3	c.1285G>A	NM_001130698.1	NP_001124170.1:p.(Val429Met)	NC_000004.11:g.122835991C>T	VUS	1 lab	f7f3112398
22:37261045 NCF4 A>G	22	37261045	37261045	A	G	NCF4	c.202A>G	NM_013416.3	NP_038202.2:p.(Lys68Glu)	NC_000022.10:g.37261045A>G	VUS	1 lab	f7f41b9412
4:56847510 CEP135 A>G	4	56847510	56847510	A	G	CEP135	c.1744A>G	NM_025009.4	NP_079285.2:p.(Met582Val)	NC_000004.11:g.56847510A>G	(Likely) benign	1 lab	f7f4fa1c0d
3:136002718 PCCB CT>C	3	136002718	136002719	CT	C	PCCB	c.584del	NM_000532.5	NP_000523.2:p.(Leu195ArgfsTer16)	NC_000003.11:g.136002719del	(Likely) pathogenic	1 lab	f7f570236a
16:14647914 PARN C>T	16	14647914	14647914	C	T	PARN	c.1405+8G>A	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14647914C>T	(Likely) benign	1 lab	f7f7dbf08e
14:36987038 NKX2-1 C>T	14	36987038	36987038	C	T	NKX2-1	c.561G>A	NM_003317.3	NP_003308.1:p.(Ser187=)	NC_000014.8:g.36987038C>T	(Likely) benign	1 lab	f7f837ddcc
2:55895019 PNPT1 T>C	2	55895019	55895019	T	C	PNPT1	c.1051A>G	NM_033109.4	NP_149100.2:p.(Ile351Val)	NC_000002.11:g.55895019T>C	(Likely) benign	1 lab	f7f8acdfa2
X:122799547 THOC2 G>A	X	122799547	122799547	G	A	THOC2	c.1332C>T	NM_001081550.1	NP_001075019.1:p.(His444=)	NC_000023.10:g.122799547G>A	(Likely) benign	1 lab	f7fc5b1bf5
17:73518153 TSEN54 G>A	17	73518153	73518153	G	A	TSEN54	c.991G>A	NM_207346.2	NP_997229.2:p.(Glu331Lys)	NC_000017.10:g.73518153G>A	VUS	1 lab	f7fdff37b6
17:74473386 RHBDF2 G>T	17	74473386	74473386	G	T	RHBDF2	c.889-6C>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74473386G>T	(Likely) benign	1 lab	f7fea40195
14:58814402 ARID4A A>C	14	58814402	58814402	A	C	ARID4A	c.1210A>C	NM_002892.3	NP_002883.3:p.(Asn404His)	NC_000014.8:g.58814402A>C	(Likely) benign	1 lab	f7ff4991df
5:1403073 SLC6A3 G>A	5	1403073	1403073	G	A	SLC6A3	c.1731C>T	NM_001044.4	NP_001035.1:p.(Ala577=)	NC_000005.9:g.1403073G>A	(Likely) benign	1 lab	f8004646b2
14:29236703 FOXG1 AGCCGCC>A	14	29236703	29236721	AGCCGCC	A	FOXG1	c.231_236del	NM_005249.5	NP_005240.3:p.(Pro79_Pro80del)	NC_000014.8:g.29236716_29236721del	VUS	1 lab	f800809f1e
9:100124660 CCDC180 G>A	9	100124660	100124660	G	A	CCDC180	c.3971G>A	NM_020893.3	NP_065944.2:p.(Arg1324Gln)	NC_000009.11:g.100124660G>A	(Likely) benign	1 lab	f803376e12
X:47062129 UBA1 C>T	X	47062129	47062129	C	T	UBA1	c.1149C>T	NM_003334.4	NP_003325.2:p.(Ile383=)	NC_000023.10:g.47062129C>T	(Likely) benign	1 lab	f8040e168f
17:56284574 MKS1 G>A	17	56284574	56284574	G	A	MKS1	c.1279C>T	NM_017777.3	NP_060247.2:p.(His427Tyr)	NC_000017.10:g.56284574G>A	VUS	1 lab	f804fdb159
5:147889519 HTR4 G>A	5	147889519	147889519	G	A	HTR4	c.576C>T	NM_000870.6	NP_000861.1:p.(Tyr192=)	NC_000005.9:g.147889519G>A	(Likely) benign	1 lab	f808960b62
4:113568845 LARP7 G>A	4	113568845	113568845	G	A	LARP7	c.1019-1G>A	NM_001267039.1	NP_001253968.1:p.?	NC_000004.11:g.113568845G>A	VUS	1 lab	f808fb7533
1:11080617 TARDBP A>G	1	11080617	11080617	A	G	TARDBP	c.675A>G	NM_007375.3	NP_031401.1:p.(Pro225=)	NC_000001.10:g.11080617A>G	(Likely) benign	1 lab	f80acc51f5
1:27878539 AHDC1 C>T	1	27878539	27878539	C	T	AHDC1	c.88G>A	NM_001029882.3	NP_001025053.1:p.(Gly30Ser)	NC_000001.10:g.27878539C>T	VUS	1 lab	f80ae3c458
11:1024964 MUC6 C>T	11	1024964	1024964	C	T	MUC6	c.3105G>A	NM_005961.2	NP_005952.2:p.(Pro1035=)	NC_000011.9:g.1024964C>T	(Likely) benign	1 lab	f80d2e45b6
17:29664861 NF1 T>C	17	29664861	29664861	T	C	NF1	c.6604T>C	NM_000267.3	NP_000258.1:p.(Cys2202Arg)	NC_000017.10:g.29664861T>C	VUS	1 lab	f80ec11918
9:123156790 CDK5RAP2 A>G	9	123156790	123156790	A	G	CDK5RAP2	c.5578T>C	NM_018249.5	NP_060719.4:p.(Leu1860=)	NC_000009.11:g.123156790A>G	(Likely) benign	1 lab	f80fff5aa4
4:90743317 SNCA T>TC	4	90743317	90743319	T	TC	SNCA	c.306+79dup	NM_000345.3	NP_000336.1:p.?	NC_000004.11:g.90743319dup	(Likely) benign	1 lab	f81090530e
10:73544789 CDH23 T>G	10	73544789	73544789	T	G	CDH23	c.5644T>G	NM_022124.5	NP_071407.4:p.(Cys1882Gly)	NC_000010.10:g.73544789T>G	VUS	1 lab	f8123bf83e
16:2135323 TSC2 G>A	16	2135323	2135323	G	A	TSC2	c.4662G>A	NM_000548.3	NP_000539.2:p.(Gln1554=)	NC_000016.9:g.2135323G>A	(Likely) pathogenic	1 lab	f812449460
6:3225694 TUBB2B A>G	6	3225694	3225694	A	G	TUBB2B	c.629T>C	NM_178012.4	NP_821080.1:p.(Ile210Thr)	NC_000006.11:g.3225694A>G	VUS	1 lab	f8135054ff
19:10476394 TYK2 G>A	19	10476394	10476394	G	A	TYK2	c.810C>T	NM_003331.4	NP_003322.3:p.(Phe270=)	NC_000019.9:g.10476394G>A	(Likely) benign	1 lab	f8155602f9
9:100240743 TDRD7 G>A	9	100240743	100240743	G	A	TDRD7	c.2189G>A	NM_014290.2	NP_055105.2:p.(Arg730Gln)	NC_000009.11:g.100240743G>A	VUS	1 lab	f81619ee59
11:113266088 ANKK1 A>G	11	113266088	113266088	A	G	ANKK1	c.640A>G	NM_178510.1	NP_848605.1:p.(Ile214Val)	NC_000011.9:g.113266088A>G	VUS	1 lab	f8190b76ef
19:10305549 DNMT1 C>T	19	10305549	10305549	C	T	DNMT1	c.27G>A	NM_001379.3	NP_001370.1:p.(Arg9=)	NC_000019.9:g.10305549C>T	(Likely) benign	1 lab	f81a43368e
7:2968245 CARD11 C>T	7	2968245	2968245	C	T	CARD11	c.1741G>A	NM_001324281.1	NP_001311210.1:p.(Ala581Thr)	NC_000007.13:g.2968245C>T	(Likely) benign	1 lab	f81bf8ad78
4:79240083 FRAS1 G>A	4	79240083	79240083	G	A	FRAS1	c.2080G>A	NM_025074.7	NP_079350.5:p.(Glu694Lys)	NC_000004.11:g.79240083G>A	(Likely) benign	1 lab	f81d6f3d53
19:54577416 TARM1 T>G	19	54577416	54577416	T	G	TARM1	c.438A>C	NM_001330650.1	NP_001317579.1:p.(Ala146=)	NC_000019.9:g.54577416T>G	(Likely) benign	1 lab	f81d902c2e
15:85342086 ZNF592 A>G	15	85342086	85342086	A	G	ZNF592	c.3004A>G	NM_014630.2	NP_055445.2:p.(Met1002Val)	NC_000015.9:g.85342086A>G	(Likely) benign	1 lab	f81d97265c
2:26684692 OTOF G>A	2	26684692	26684692	G	A	OTOF	c.5405C>T	NM_194248.2	NP_919224.1:p.(Ala1802Val)	NC_000002.11:g.26684692G>A	VUS	1 lab	f81f4485a1
X:152991058 ABCD1 C>T	X	152991058	152991058	C	T	ABCD1	c.337C>T	NM_000033.3	NP_000024.2:p.(Arg113Cys)	NC_000023.10:g.152991058C>T	(Likely) pathogenic	1 lab	f820219ecc
11:31531397 ELP4 C>G	11	31531397	31531397	C	G	ELP4	c.66C>G	NM_001288726.1	NP_001275655.1:p.(Ser22Arg)	NC_000011.9:g.31531397C>G	(Likely) benign	1 lab	f820532fd6
22:21347997 LZTR1 T>G	22	21347997	21347997	T	G	LZTR1	c.1307T>G	NM_006767.3	NP_006758.2:p.(Leu436Arg)	NC_000022.10:g.21347997T>G	VUS	1 lab	f8212db2b0
7:103393630 RELN T>C	7	103393630	103393630	T	C	RELN	c.576A>G	NM_173054.2	NP_774959.1:p.(Leu192=)	NC_000007.13:g.103393630T>C	(Likely) benign	1 lab	f8220099a3
11:71819718 LRTOMT G>A	11	71819718	71819718	G	A	LRTOMT	c.623G>A	NM_001145309.3	NP_001138781.1:p.(Arg208Gln)	NC_000011.9:g.71819718G>A	(Likely) benign	1 lab	f824654c2c
16:1561056 IFT140 C>T	16	1561056	1561056	C	T	IFT140	c.4278G>A	NM_014714.3	NP_055529.2:p.(Gly1426=)	NC_000016.9:g.1561056C>T	(Likely) benign	1 lab	f82495fff0
21:38865343 DYRK1A T>G	21	38865343	38865343	T	G	DYRK1A	c.949T>G	NM_130436.2	NP_569120.1:p.(Phe317Val)	NC_000021.8:g.38865343T>G	VUS	1 lab	f82534b8d5
1:152275621 FLG T>A	1	152275621	152275621	T	A	FLG	c.11741A>T	NM_002016.1	NP_002007.1:p.(Gln3914Leu)	NC_000001.10:g.152275621T>A	(Likely) benign	1 lab	f82a49354b
17:72306270 DNAI2 C>T	17	72306270	72306270	C	T	DNAI2	c.1462C>T	NM_023036.5	NP_075462.3:p.(Leu488Phe)	NC_000017.10:g.72306270C>T	VUS	1 lab	f82c0e9b3d
3:142168389 ATR C>T	3	142168389	142168389	C	T	ATR	c.7817G>A	NM_001184.3	NP_001175.2:p.(Arg2606Gln)	NC_000003.11:g.142168389C>T	VUS	1 lab	f82d087da3
6:117724427 ROS1 G>A	6	117724427	117724427	G	A	ROS1	c.452C>T	NM_002944.2	NP_002935.2:p.(Pro151Leu)	NC_000006.11:g.117724427G>A	(Likely) benign	1 lab	f82dbcbc26
15:51914720 DMXL2 G>C	15	51914720	51914720	G	C	DMXL2	c.23C>G	NM_001174116.1	NP_001167587.1:p.(Thr8Ser)	NC_000015.9:g.51914720G>C	(Likely) benign	1 lab	f82e1e5319
3:134280326 CEP63 A>G	3	134280326	134280326	A	G	CEP63	c.2061A>G	NM_025180.4	NP_079456.2:p.(Glu687=)	NC_000003.11:g.134280326A>G	(Likely) benign	1 lab	f82e95bb4b
10:73594183 PSAP G>A	10	73594183	73594183	G	A	PSAP	c.120C>T	NM_001042465.2	NP_001035930.1:p.(Ser40=)	NC_000010.10:g.73594183G>A	(Likely) benign	1 lab	f82ef0d0be
11:92538457 FAT3 A>G	11	92538457	92538457	A	G	FAT3	c.9035A>G	NM_001008781.2	NP_001008781.2:p.(Gln3012Arg)	NC_000011.9:g.92538457A>G	VUS	1 lab	f82fe3307d
12:53207556 KRT4 T>G	12	53207556	53207556	T	G	KRT4	c.287A>C	NM_002272.3	NP_002263.3:p.(Lys96Thr)	NC_000012.11:g.53207556T>G	(Likely) benign	1 lab	f8311c55b4
5:1272375 TERT G>A	5	1272375	1272375	G	A	TERT	c.2307C>T	NM_198253.2	NP_937983.2:p.(Leu769=)	NC_000005.9:g.1272375G>A	(Likely) benign	1 lab	f8313adddd
9:80943926 PSAT1 A>G	9	80943926	80943926	A	G	PSAT1	c.1037A>G	NM_058179.3	NP_478059.1:p.(Tyr346Cys)	NC_000009.11:g.80943926A>G	VUS	1 lab	f8316b9ca2
18:45395698 SMAD2 T>C	18	45395698	45395698	T	C	SMAD2	c.436A>G	NM_001003652.3	NP_001003652.1:p.(Ile146Val)	NC_000018.9:g.45395698T>C	VUS	1 lab	f833d2650e
11:6644641 DCHS1 C>T	11	6644641	6644641	C	T	DCHS1				NC_000011.9:g.6644641C>T	VUS	1 lab	f8360e5174
11:70644670 SHANK2 G>A	11	70644670	70644670	G	A	SHANK2	c.1664-9C>T	NM_012309.4	NP_036441.2:p.?	NC_000011.9:g.70644670G>A	(Likely) benign	1 lab	f8439f02d3
9:136517389 DBH G>T	9	136517389	136517389	G	T	DBH	c.1357G>T	NM_000787.3	NP_000778.3:p.(Val453Phe)	NC_000009.11:g.136517389G>T	(Likely) benign	1 lab	f837c7c3fb
2:85616883 ELMOD3 T>C	2	85616883	85616883	T	C	ELMOD3	c.748T>C	NM_001329791.1	NP_001316720.1:p.(Phe250Leu)	NC_000002.11:g.85616883T>C	VUS	1 lab	f8399de71f
15:101440770 ALDH1A3 C>T	15	101440770	101440770	C	T	ALDH1A3	c.884-10C>T	NM_000693.3	NP_000684.2:p.?	NC_000015.9:g.101440770C>T	(Likely) benign	1 lab	f83b00fbd0
14:31613440 HECTD1 C>T	14	31613440	31613440	C	T	HECTD1	c.2655G>A	NM_015382.4	NP_056197.3:p.(Trp885Ter)	NC_000014.8:g.31613440C>T	VUS	1 lab	f83b92412d
19:9069568 MUC16 G>A	19	9069568	9069568	G	A	MUC16	c.17878C>T	NM_024690.2	NP_078966.2:p.(Leu5960Phe)	NC_000019.9:g.9069568G>A	(Likely) benign	1 lab	f83ba2a9e9
10:14970023 DCLRE1C T>G	10	14970023	14970023	T	G	DCLRE1C	c.549A>C	NM_001289079.1	NP_001276008.1:p.(Val183=)	NC_000010.10:g.14970023T>G	(Likely) benign	1 lab	f83ce356db
22:32211158 DEPDC5 G>A	22	32211158	32211158	G	A	DEPDC5	c.1626G>A	NM_001242896.2	NP_001229825.1:p.(Gln542=)	NC_000022.10:g.32211158G>A	(Likely) benign	1 lab	f83e0feb36
16:14029060 ERCC4 T>C	16	14029060	14029060	T	C	ERCC4	c.1271T>C	NM_005236.2	NP_005227.1:p.(Ile424Thr)	NC_000016.9:g.14029060T>C	VUS	1 lab	f83e8ec57c
22:24167659 SMARCB1 A>AAG	22	24167659	24167662	A	AAG	SMARCB1	c.986+59_986+60dup	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24167661_24167662dup	(Likely) benign	1 lab	f83eb190f8
13:28222569 POLR1D A>T	13	28222569	28222569	A	T	POLR1D	c.-5A>T	NM_001206559.1	NP_001193488.1:p.?	NC_000013.10:g.28222569A>T	VUS	1 lab	0313afcbf4
12:32866130 DNM1L CTGTT>C	12	32866130	32866136	CTGTT	C	DNM1L	c.457-10_457-7del	NM_012062.5	NP_036192.2:p.?	NC_000012.11:g.32866133_32866136del	(Likely) benign	1 lab	f83fc5250c
15:49031259 CEP152 A>G	15	49031259	49031259	A	G	CEP152	c.4320T>C	NM_001194998.1	NP_001181927.1:p.(His1440=)	NC_000015.9:g.49031259A>G	(Likely) benign	1 lab	f841bb9e0a
8:145739029 RECQL4 C>T	8	145739029	145739029	C	T	RECQL4	c.2126G>A	NM_004260.3	NP_004251.3:p.(Arg709Gln)	NC_000008.10:g.145739029C>T	VUS	1 lab	f844032076
6:129674459 LAMA2 C>T	6	129674459	129674459	C	T	LAMA2	c.4674C>T	NM_000426.3	NP_000417.2:p.(Asp1558=)	NC_000006.11:g.129674459C>T	(Likely) benign	1 lab	f845a7dd60
9:20820368 FOCAD A>G	9	20820368	20820368	A	G	FOCAD	c.1606A>G	NM_017794.4	NP_060264.4:p.(Thr536Ala)	NC_000009.11:g.20820368A>G	VUS	1 lab	f84804f114
21:45750608 CFAP410 A>C	21	45750608	45750608	A	C	CFAP410	c.737T>G	NM_001271441.1	NP_001258370.1:p.(Val246Gly)	NC_000021.8:g.45750608A>C	VUS	1 lab	f8490a4df1
6:7581071 DSP A>T	6	7581071	7581071	A	T	DSP	c.4648A>T	NM_004415.2	NP_004406.2:p.(Thr1550Ser)	NC_000006.11:g.7581071A>T	VUS	1 lab	f84c69309d
2:179605139 TTN C>T	2	179605139	179605139	C	T	TTN	c.12821G>A	NM_001267550.1	NP_001254479.1:p.(Ser4274Asn)	NC_000002.11:g.179605139C>T	VUS	1 lab	f84c7b7b95
7:43846773 BLVRA G>A	7	43846773	43846773	G	A	BLVRA	c.830G>A	NM_001253823.1	NP_001240752.1:p.(Arg277His)	NC_000007.13:g.43846773G>A	VUS	1 lab	f84e0a0ac4
X:77244755 ATP7A A>G	X	77244755	77244755	A	G	ATP7A	c.637A>G	NM_000052.6	NP_000043.4:p.(Ile213Val)	NC_000023.10:g.77244755A>G	(Likely) benign	1 lab	f8528eda8e
9:140729303 EHMT1 C>G	9	140729303	140729303	C	G	EHMT1	c.3795C>G	NM_024757.4	NP_079033.4:p.(His1265Gln)	NC_000009.11:g.140729303C>G	VUS	1 lab	f8538e67a9
17:76433769 DNAH17 G>A	17	76433769	76433769	G	A	DNAH17	c.11987C>T	NM_173628.3	NP_775899.3:p.(Thr3996Met)	NC_000017.10:g.76433769G>A	VUS	1 lab	f8544a1468
20:47989991 KCNB1 C>T	20	47989991	47989991	C	T	KCNB1	c.2106G>A	NM_004975.3	NP_004966.1:p.(Ala702=)	NC_000020.10:g.47989991C>T	(Likely) benign	1 lab	f85653da04
X:53228322 KDM5C G>A	X	53228322	53228322	G	A	KDM5C	c.2080C>T	NM_004187.3	NP_004178.2:p.(Arg694Ter)	NC_000023.10:g.53228322G>A	(Likely) pathogenic	1 lab	f85947372d
1:1417596 ATAD3B A>G	1	1417596	1417596	A	G	ATAD3B	c.593A>G	NM_031921.5	NP_114127.3:p.(Lys198Arg)	NC_000001.10:g.1417596A>G	(Likely) benign	1 lab	f8596aad99
12:49446053 KMT2D A>T	12	49446053	49446053	A	T	KMT2D	c.1413T>A	NM_003482.3	NP_003473.3:p.(Pro471=)	NC_000012.11:g.49446053A>T	(Likely) benign	1 lab	f85c3876fd
22:30074239 NF2 AT>A	22	30074239	30074241	AT	A	NF2	c.1503del	NM_000268.4	NP_000259.1:p.(Ile501MetfsTer14)	NC_000022.10:g.30074241del	(Likely) pathogenic	1 lab	f85c5823bb
11:46724314 ZNF408 A>C	11	46724314	46724314	A	C	ZNF408	c.391A>C	NM_024741.2	NP_079017.1:p.(Ser131Arg)	NC_000011.9:g.46724314A>C	VUS	1 lab	f85e7c0921
10:97626000 ENTPD1 G>C	10	97626000	97626000	G	C	ENTPD1	c.1270G>C	NM_001164179.1	NP_001157651.1:p.(Glu424Gln)	NC_000010.10:g.97626000G>C	VUS	1 lab	f8604d62a3
18:10871413 PIEZO2 G>GC	18	10871413	10871414	G	GC	PIEZO2	c.330-1dup	NM_022068.3	NP_071351.2:p.?	NC_000018.9:g.10871414dup	(Likely) benign	1 lab	f8632aad14
13:26154092 ATP8A2 G>A	13	26154092	26154092	G	A	ATP8A2	c.2007+7G>A	NM_016529.5	NP_057613.4:p.?	NC_000013.10:g.26154092G>A	(Likely) benign	1 lab	f86365c92f
1:1447693 ATAD3A C>T	1	1447693	1447693	C	T	ATAD3A	c.45C>T	NM_018188.4	NP_060658.3:p.(Gly15=)	NC_000001.10:g.1447693C>T	(Likely) benign	1 lab	f863d39079
8:37555933 ZNF703 G>GCGC	8	37555933	37555961	G	GCGC	ZNF703	c.1540_1542dup	NM_025069.3	NP_079345.1:p.(Ala514dup)	NC_000008.10:g.37555959_37555961dup	VUS	1 lab	f8666fd6a8
1:47717399 STIL G>A	1	47717399	47717399	G	A	STIL	c.3276C>T	NM_001048166.1	NP_001041631.1:p.(Asp1092=)	NC_000001.10:g.47717399G>A	(Likely) benign	1 lab	f868fe6aca
10:27815806 RAB18 A>G	10	27815806	27815806	A	G	RAB18	c.174A>G	NM_001256410.1	NP_001243339.1:p.(Lys58=)	NC_000010.10:g.27815806A>G	(Likely) benign	1 lab	f8694447be
19:38572678 SIPA1L3 C>G	19	38572678	38572678	C	G	SIPA1L3	c.473C>G	NM_015073.2	NP_055888.1:p.(Ser158Cys)	NC_000019.9:g.38572678C>G	VUS	1 lab	f869dfe05f
11:6554303 DNHD1 A>G	11	6554303	6554303	A	G	DNHD1	c.2394A>G	NM_144666.2	NP_653267.2:p.(Gln798=)	NC_000011.9:g.6554303A>G	(Likely) benign	1 lab	f86a1554bc
14:68264912 ZFYVE26 G>A	14	68264912	68264912	G	A	ZFYVE26	c.2067C>T	NM_015346.3	NP_056161.2:p.(Leu689=)	NC_000014.8:g.68264912G>A	(Likely) benign	1 lab	f86b313d38
17:29553484 NF1 C>CG	17	29553484	29553485	C	CG	NF1	c.2034dup	NM_000267.3	NP_000258.1:p.(Ile679AspfsTer21)	NC_000017.10:g.29553485dup	(Likely) pathogenic	1 lab	f86be66fcc
7:103301864 RELN T>G	7	103301864	103301864	T	G	RELN	c.1400A>C	NM_005045.3	NP_005036.2:p.(Asp467Ala)	NC_000007.13:g.103301864T>G	VUS	1 lab	f86dad4b5e
3:52441236 BAP1 G>A	3	52441236	52441236	G	A	BAP1	c.534C>T	NM_004656.2	NP_004647.1:p.(Gly178=)	NC_000003.11:g.52441236G>A	VUS	1 lab	f86ec07cf3
9:5090534 JAK2 C>T	9	5090534	5090534	C	T	JAK2	c.2850C>T	NM_001322194.1	NP_001309123.1:p.(His950=)	NC_000009.11:g.5090534C>T	(Likely) benign	1 lab	f86f4c650a
17:8133284 CTC1 G>A	17	8133284	8133284	G	A	CTC1	c.2936C>T	NM_025099.6	NP_079375.3:p.(Ser979Phe)	NC_000017.10:g.8133284G>A	VUS	1 lab	f86f674eab
22:38528959 PLA2G6 G>A	22	38528959	38528959	G	A	PLA2G6	c.956C>T	NM_003560.2	NP_003551.2:p.(Thr319Met)	NC_000022.10:g.38528959G>A	VUS	1 lab	f86fb6ede3
8:100779102 VPS13B C>T	8	100779102	100779102	C	T	VPS13B	c.7226C>T	NM_017890.4	NP_060360.3:p.(Pro2409Leu)	NC_000008.10:g.100779102C>T	VUS	1 lab	f870b6e84a
5:1880249 IRX4 C>T	5	1880249	1880249	C	T	IRX4	c.416G>A	NM_001278635.1	NP_001265564.1:p.(Arg139Gln)	NC_000005.9:g.1880249C>T	(Likely) benign	1 lab	f873449a12
17:40489544 STAT3 TGA>T	17	40489544	40489549	TGA	T	STAT3	c.704_705del	NM_139276.3	NP_644805.1:p.(Leu235HisfsTer7)	NC_000017.10:g.40489548_40489549del	(Likely) pathogenic	1 lab	f87398d8e1
2:74649353 WDR54 C>T	2	74649353	74649353	C	T	WDR54	c.73C>T	NM_032118.4	NP_115494.1:p.(Gln25Ter)	NC_000002.11:g.74649353C>T	VUS	1 lab	f875b21988
7:141479175 TAS2R4 G>C	7	141479175	141479175	G	C	TAS2R4	c.887G>C	NM_016944.1	NP_058640.1:p.(Cys296Ser)	NC_000007.13:g.141479175G>C	VUS	1 lab	f875cfcd83
X:141291502 MAGEC2 G>A	X	141291502	141291502	G	A	MAGEC2	c.272C>T	NM_016249.3	NP_057333.1:p.(Pro91Leu)	NC_000023.10:g.141291502G>A	(Likely) benign	1 lab	f876e20d22
X:48542346 WAS T>A	X	48542346	48542346	T	A	WAS	c.104T>A	NM_000377.2	NP_000368.1:p.(Leu35His)	NC_000023.10:g.48542346T>A	(Likely) pathogenic	1 lab	f87726d09d
19:42840073 MEGF8 T>C	19	42840073	42840073	T	C	MEGF8	c.829-10T>C	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42840073T>C	(Likely) benign	1 lab	f8779208d8
11:117241895 CEP164 G>T	11	117241895	117241895	G	T	CEP164	c.865G>T	NM_014956.4	NP_055771.4:p.(Ala289Ser)	NC_000011.9:g.117241895G>T	VUS	1 lab	f879569d99
8:41591650 ANK1 G>T	8	41591650	41591650	G	T	ANK1	c.130-63C>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41591650G>T	(Likely) benign	1 lab	0658655606
9:123210389 CDK5RAP2 G>A	9	123210389	123210389	G	A	CDK5RAP2	c.2809C>T	NM_018249.5	NP_060719.4:p.(Arg937Cys)	NC_000009.11:g.123210389G>A	VUS	1 lab	f87a5ee04a
2:179642023 TTN G>A	2	179642023	179642023	G	A	TTN	c.4667C>T	NM_001267550.1	NP_001254479.1:p.(Pro1556Leu)	NC_000002.11:g.179642023G>A	VUS	1 lab	f87de4fe93
19:55240959 KIR3DL3 G>A	19	55240959	55240959	G	A	KIR3DL3	c.656G>A	NM_153443.4	NP_703144.3:p.(Gly219Asp)	NC_000019.9:g.55240959G>A	(Likely) benign	1 lab	f8821d6bb8
10:112541336 RBM20 T>C	10	112541336	112541336	T	C	RBM20	c.969T>C	NM_001134363.1	NP_001127835.1:p.(His323=)	NC_000010.10:g.112541336T>C	(Likely) benign	1 lab	f884727d64
12:124274620 DNAH10 C>T	12	124274620	124274620	C	T	DNAH10	c.1584C>T	NM_207437.3	NP_997320.2:p.(Ser528=)	NC_000012.11:g.124274620C>T	(Likely) benign	1 lab	f884848b8c
21:46888393 COL18A1 C>T	21	46888393	46888393	C	T	COL18A1	c.344C>T	NM_130445.2	NP_569712.2:p.(Ala115Val)	NC_000021.8:g.46888393C>T	VUS	1 lab	f885314061
11:108236241 ATM A>G	11	108236241	108236241	A	G	ATM	c.*6A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236241A>G	VUS	1 lab	43c95e8f77
19:43433670 PSG7 A>G	19	43433670	43433670	A	G	PSG7	c.90T>C	NM_001290042.1	NP_001276971.1:p.(Thr30=)	NC_000019.9:g.43433670A>G	(Likely) benign	1 lab	f88f217847
1:108742698 SLC25A24 C>G	1	108742698	108742698	C	G	SLC25A24	c.63G>C	NM_013386.5	NP_037518.3:p.(Pro21=)	NC_000001.10:g.108742698C>G	(Likely) benign	1 lab	f88fdd32d3
11:88061372 CTSC G>A	11	88061372	88061372	G	A	CTSC	c.319-8C>T	NM_148170.4	NP_680475.1:p.?	NC_000011.9:g.88061372G>A	(Likely) benign	1 lab	f89142b1b8
12:6952374 GNB3 C>T	12	6952374	6952374	C	T	GNB3	c.240C>T	NM_002075.3	NP_002066.1:p.(Ile80=)	NC_000012.11:g.6952374C>T	(Likely) benign	1 lab	f893050eea
12:132626910 DDX51 C>G	12	132626910	132626910	C	G	DDX51	c.728G>C	NM_175066.4	NP_778236.2:p.(Gly243Ala)	NC_000012.11:g.132626910C>G	VUS	1 lab	f8948bbce7
15:73843374 REC114 C>T	15	73843374	73843374	C	T	REC114	c.429C>T	NM_001042367.2	NP_001035826.1:p.(Tyr143=)	NC_000015.9:g.73843374C>T	(Likely) benign	1 lab	f89583961d
12:54912707 NCKAP1L G>A	12	54912707	54912707	G	A	NCKAP1L	c.1430G>A	NM_005337.5	NP_005328.2:p.(Gly477Glu)	NC_000012.11:g.54912707G>A	(Likely) benign	1 lab	f8959cb6ef
1:228476025 OBSCN C>A	1	228476025	228476025	C	A	OBSCN	c.11362C>A	NM_001271223.2	NP_001258152.2:p.(Pro3788Thr)	NC_000001.10:g.228476025C>A	VUS	1 lab	f8968a0f4d
2:27455024 CAD G>A	2	27455024	27455024	G	A	CAD	c.2577G>A	NM_004341.4	NP_004332.2:p.(Pro859=)	NC_000002.11:g.27455024G>A	(Likely) benign	1 lab	f8968fd340
18:56246442 ALPK2 T>C	18	56246442	56246442	T	C	ALPK2	c.1566A>G	NM_052947.4	NP_443179.3:p.(Gly522=)	NC_000018.9:g.56246442T>C	(Likely) benign	1 lab	f8980c4ef7
11:55035843 MISSING A>T	11	55035843	55035843	A	T	MISSING				NC_000011.9:g.55035843A>T	(Likely) benign	1 lab	f898e0c2d4
10:105793763 COL17A1 C>T	10	105793763	105793763	C	T	COL17A1	c.4096G>A	NM_000494.4	NP_000485.3:p.(Asp1366Asn)	NC_000010.10:g.105793763C>T	(Likely) benign	1 lab	f899e009fe
21:19687506 TMPRSS15 G>A	21	19687506	19687506	G	A	TMPRSS15	c.1989C>T	NM_002772.2	NP_002763.2:p.(Asp663=)	NC_000021.8:g.19687506G>A	(Likely) benign	1 lab	f89ae93da8
21:43282108 PRDM15 C>T	21	43282108	43282108	C	T	PRDM15	c.628G>A	NM_022115.4	NP_071398.3:p.(Ala210Thr)	NC_000021.8:g.43282108C>T	(Likely) benign	1 lab	f89b7ec67e
X:128710290 OCRL T>C	X	128710290	128710290	T	C	OCRL	c.1883-4T>C	NM_001318784.1	NP_001305713.1:p.?	NC_000023.10:g.128710290T>C	(Likely) benign	1 lab	f89d2bc760
7:155592798 SHH A>C	7	155592798	155592798	A	C	SHH	c.443T>G	NM_001310462.1	NP_001297391.1:p.(Leu148Trp)	NC_000007.13:g.155592798A>C	VUS	1 lab	f89e8e474a
18:47405416 MYO5B C>T	18	47405416	47405416	C	T	MYO5B	c.3175G>A	NM_001080467.2	NP_001073936.1:p.(Glu1059Lys)	NC_000018.9:g.47405416C>T	VUS	1 lab	f89ec8e1ad
19:9019610 MUC16 G>A	19	9019610	9019610	G	A	MUC16	c.37536C>T	NM_024690.2	NP_078966.2:p.(Pro12512=)	NC_000019.9:g.9019610G>A	(Likely) benign	1 lab	f89f609da0
X:23397919 PTCHD1 A>G	X	23397919	23397919	A	G	PTCHD1	c.563A>G	NM_173495.2	NP_775766.2:p.(Asn188Ser)	NC_000023.10:g.23397919A>G	(Likely) benign	1 lab	f89fefd830
11:94320265 PIWIL4 A>C	11	94320265	94320265	A	C	PIWIL4	c.766A>C	NM_152431.3	NP_689644.2:p.(Lys256Gln)	NC_000011.9:g.94320265A>C	(Likely) benign	1 lab	f8a0e13503
1:196682859 CFH T>A	1	196682859	196682859	T	A	CFH	c.1337-6T>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196682859T>A	(Likely) benign	1 lab	f8a24a8f05
X:18622910 CDKL5 C>T	X	18622910	18622910	C	T	CDKL5	c.1866C>T	NM_001323289.1	NP_001310218.1:p.(Ala622=)	NC_000023.10:g.18622910C>T	(Likely) benign	1 lab	f8a4386835
2:31572949 XDH G>A	2	31572949	31572949	G	A	XDH	c.2772C>T	NM_000379.3	NP_000370.2:p.(Ala924=)	NC_000002.11:g.31572949G>A	(Likely) benign	1 lab	f8a450a055
12:88532978 CEP290 T>A	12	88532978	88532978	T	A	CEP290	c.251-10A>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88532978T>A	(Likely) benign	1 lab	f8a52cbdc8
5:14368831 TRIO C>T	5	14368831	14368831	C	T	TRIO	c.2889C>T	NM_007118.3	NP_009049.2:p.(Ser963=)	NC_000005.9:g.14368831C>T	(Likely) benign	1 lab	f8a543712e
5:170232776 GABRP C>T	5	170232776	170232776	C	T	GABRP	c.598C>T	NM_014211.2	NP_055026.1:p.(Arg200Cys)	NC_000005.9:g.170232776C>T	VUS	1 lab	f8a583eb90
3:178928344 PIK3CA C>T	3	178928344	178928344	C	T	PIK3CA	c.1530C>T	NM_006218.2	NP_006209.2:p.(His510=)	NC_000003.11:g.178928344C>T	(Likely) benign	1 lab	f8a5b1251f
15:67482783 SMAD3 T>C	15	67482783	67482783	T	C	SMAD3	c.1187T>C	NM_005902.3	NP_005893.1:p.(Ile396Thr)	NC_000015.9:g.67482783T>C	VUS	1 lab	f8a5b263ec
5:128844923 ADAMTS19 G>C	5	128844923	128844923	G	C	ADAMTS19	c.901G>C	NM_133638.4	NP_598377.4:p.(Gly301Arg)	NC_000005.9:g.128844923G>C	VUS	1 lab	f8a6044abf
16:70972596 HYDIN C>T	16	70972596	70972596	C	T	HYDIN	c.6916G>A	NM_001270974.2	NP_001257903.1:p.(Glu2306Lys)	NC_000016.9:g.70972596C>T	VUS	1 lab	f8a65373ec
X:72667273 CDX4 A>G	X	72667273	72667273	A	G	CDX4	c.184A>G	NM_005193.1	NP_005184.1:p.(Met62Val)	NC_000023.10:g.72667273A>G	(Likely) benign	1 lab	f8a7711ddc
6:72947627 RIMS1 T>TA	6	72947627	72947630	T	TA	RIMS1	c.1957+5dup	NM_014989.5	NP_055804.2:p.?	NC_000006.11:g.72947630dup	(Likely) benign	1 lab	f8a790557c
6:31930318 SKIC2 G>T	6	31930318	31930318	G	T	SKIC2	c.1167G>T	NM_006929.4	NP_008860.4:p.(Leu389=)	NC_000006.11:g.31930318G>T	(Likely) benign	1 lab	f8a818faa8
10:75394430 MYOZ1 A>G	10	75394430	75394430	A	G	MYOZ1	c.314T>C	NM_021245.3	NP_067068.1:p.(Phe105Ser)	NC_000010.10:g.75394430A>G	(Likely) benign	1 lab	f8a83a1446
X:12734516 FRMPD4 G>A	X	12734516	12734516	G	A	FRMPD4	c.1938G>A	NM_014728.3	NP_055543.2:p.(Pro646=)	NC_000023.10:g.12734516G>A	(Likely) benign	1 lab	f8a8aa8769
X:114468385 LRCH2 G>T	X	114468385	114468385	G	T	LRCH2	c.220C>A	NM_020871.3	NP_065922.3:p.(Gln74Lys)	NC_000023.10:g.114468385G>T	(Likely) benign	1 lab	f8aa74ad25
3:52485303 TNNC1 C>T	3	52485303	52485303	C	T	TNNC1	c.474G>A	NM_003280.2	NP_003271.1:p.(Lys158=)	NC_000003.11:g.52485303C>T	(Likely) benign	1 lab	f8aad2d97b
X:153453340 OPN1MW T>G	X	153453340	153453340	T	G	OPN1MW	c.194T>G	NM_000513.2	NP_000504.1:p.(Ile65Ser)	NC_000023.10:g.153453340T>G	VUS	1 lab	f8af8cdad2
3:121547418 IQCB1 A>G	3	121547418	121547418	A	G	IQCB1	c.162T>C	NM_001023570.3	NP_001018864.2:p.(Tyr54=)	NC_000003.11:g.121547418A>G	(Likely) benign	1 lab	f8b05db786
14:100375734 EML1 T>C	14	100375734	100375734	T	C	EML1	c.1214T>C	NM_001008707.1	NP_001008707.1:p.(Ile405Thr)	NC_000014.8:g.100375734T>C	VUS	1 lab	f8b14d1a75
X:69366597 IGBP1 G>A	X	69366597	69366597	G	A	IGBP1	c.597G>A	NM_001551.2	NP_001542.1:p.(Arg199=)	NC_000023.10:g.69366597G>A	(Likely) benign	1 lab	f8b380bd58
1:7700450 CAMTA1 C>T	1	7700450	7700450	C	T	CAMTA1	c.511-10C>T	NM_015215.3	NP_056030.1:p.?	NC_000001.10:g.7700450C>T	(Likely) benign	1 lab	f8b3d08182
8:100523644 VPS13B A>G	8	100523644	100523644	A	G	VPS13B	c.4612A>G	NM_017890.4	NP_060360.3:p.(Thr1538Ala)	NC_000008.10:g.100523644A>G	(Likely) benign	1 lab	f8b4131925
8:145739338 RECQL4 C>T	8	145739338	145739338	C	T	RECQL4	c.2032G>A	NM_004260.3	NP_004251.3:p.(Val678Met)	NC_000008.10:g.145739338C>T	VUS	1 lab	f8b46458dc
1:115277136 CSDE1 G>A	1	115277136	115277136	G	A	CSDE1	c.647C>T	NM_001242891.1	NP_001229820.1:p.(Ala216Val)	NC_000001.10:g.115277136G>A	VUS	1 lab	f8b7e3f6d8
2:179468921 TTN G>A	2	179468921	179468921	G	A	TTN	c.54493C>T	NM_001267550.1	NP_001254479.1:p.(Arg18165Cys)	NC_000002.11:g.179468921G>A	VUS	1 lab	f8b7f31ccd
X:32509611 DMD T>A	X	32509611	32509611	T	A	DMD	c.2036A>T	NM_004010.3	NP_004001.1:p.(Lys679Ile)	NC_000023.10:g.32509611T>A	VUS	1 lab	f8b80eac14
1:198713260 PTPRC A>C	1	198713260	198713260	A	C	PTPRC	c.2775A>C	NM_002838.4	NP_002829.3:p.(Leu925Phe)	NC_000001.10:g.198713260A>C	(Likely) benign	1 lab	f8b856a238
16:1411894 GNPTG G>A	16	1411894	1411894	G	A	GNPTG	c.255G>A	NM_032520.4	NP_115909.1:p.(Pro85=)	NC_000016.9:g.1411894G>A	(Likely) benign	1 lab	f8b86e92d5
7:91671379 AKAP9 A>G	7	91671379	91671379	A	G	AKAP9	c.4937A>G	NM_005751.4	NP_005742.4:p.(Glu1646Gly)	NC_000007.13:g.91671379A>G	VUS	1 lab	f8b99f96b5
14:102445680 DYNC1H1 C>T	14	102445680	102445680	C	T	DYNC1H1	c.369C>T	NM_001376.4	NP_001367.2:p.(Pro123=)	NC_000014.8:g.102445680C>T	(Likely) benign	1 lab	f8ba30edeb
8:10469736 RP1L1 G>C	8	10469736	10469736	G	C	RP1L1	c.1872C>G	NM_178857.5	NP_849188.4:p.(Ala624=)	NC_000008.10:g.10469736G>C	(Likely) benign	1 lab	f8bd96b1aa
19:11362809 DOCK6 C>T	19	11362809	11362809	C	T	DOCK6	c.493G>A	NM_020812.3	NP_065863.2:p.(Gly165Ser)	NC_000019.9:g.11362809C>T	(Likely) benign	1 lab	f8bd9737b0
7:156584465 LMBR1 G>C	7	156584465	156584465	G	C	LMBR1	c.423+4618C>G	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584465G>C	(Likely) pathogenic	1 lab	f8bda20810
20:5294679 PROKR2 A>G	20	5294679	5294679	A	G	PROKR2	c.337T>C	NM_144773.3	NP_658986.1:p.(Tyr113His)	NC_000020.10:g.5294679A>G	VUS	1 lab	f8be3e6787
9:71849386 TJP2 G>A	9	71849386	71849386	G	A	TJP2	c.1703G>A	NM_004817.4	NP_004808.2:p.(Arg568Gln)	NC_000009.11:g.71849386G>A	VUS	1 lab	f8be525f77
17:66364750 ARSG G>A	17	66364750	66364750	G	A	ARSG	c.766G>A	NM_001352910.1	NP_001339839.1:p.(Val256Met)	NC_000017.10:g.66364750G>A	VUS	1 lab	f8c0c4c4ed
21:34727768 IFNAR1 C>T	21	34727768	34727768	C	T	IFNAR1	c.1587C>T	NM_000629.3	NP_000620.2:p.(Ser529=)	NC_000021.8:g.34727768C>T	(Likely) benign	1 lab	f8c0ca48a1
1:12337464 VPS13D G>A	1	12337464	12337464	G	A	VPS13D	c.3819G>A	NM_015378.4	NP_056193.2:p.(Thr1273=)	NC_000001.10:g.12337464G>A	(Likely) benign	1 lab	f8c177fc68
17:456673 VPS53 A>G	17	456673	456673	A	G	VPS53	c.1734T>C	NM_001128159.2	NP_001121631.1:p.(Asp578=)	NC_000017.10:g.456673A>G	(Likely) benign	1 lab	f8c1a59fb6
1:161139744 PPOX T>C	1	161139744	161139744	T	C	PPOX	c.917T>C	NM_000309.4	NP_000300.1:p.(Leu306Pro)	NC_000001.10:g.161139744T>C	(Likely) pathogenic	1 lab	f8c30a0393
2:179407991 TTN A>G	2	179407991	179407991	A	G	TTN	c.96709T>C	NM_001267550.1	NP_001254479.1:p.(Tyr32237His)	NC_000002.11:g.179407991A>G	VUS	1 lab	f8c37cd226
14:91700455 GPR68 C>T	14	91700455	91700455	C	T	GPR68	c.940G>A	NM_001177676.2	NP_001171147.1:p.(Gly314Ser)	NC_000014.8:g.91700455C>T	(Likely) benign	1 lab	f8c64ec3cf
17:1628581 WDR81 C>T	17	1628581	1628581	C	T	WDR81	c.328C>T	NM_001163809.1	NP_001157281.1:p.(Leu110=)	NC_000017.10:g.1628581C>T	(Likely) benign	1 lab	f8c6ead98f
13:52602467 ALG11 G>T	13	52602467	52602467	G	T	ALG11	c.1220G>T	NM_001004127.2	NP_001004127.2:p.(Cys407Phe)	NC_000013.10:g.52602467G>T	VUS	1 lab	f8c724ec6f
6:33137844 COL11A2 G>A	6	33137844	33137844	G	A	COL11A2	c.3616C>T	NM_080680.2	NP_542411.2:p.(Leu1206=)	NC_000006.11:g.33137844G>A	(Likely) benign	1 lab	f8c9ba771f
18:20573564 RBBP8 G>A	18	20573564	20573564	G	A	RBBP8	c.1774G>A	NM_002894.2	NP_002885.1:p.(Glu592Lys)	NC_000018.9:g.20573564G>A	(Likely) benign	1 lab	f8c9ec0a33
1:173808584 DARS2 A>G	1	173808584	173808584	A	G	DARS2	c.920A>G	NM_018122.5	NP_060592.2:p.(Asn307Ser)	NC_000001.10:g.173808584A>G	(Likely) benign	1 lab	f8ca470277
19:45996577 RTN2 T>C	19	45996577	45996577	T	C	RTN2	c.874A>G	NM_005619.4	NP_005610.1:p.(Ile292Val)	NC_000019.9:g.45996577T>C	(Likely) benign	1 lab	f8ca47adae
10:50678291 ERCC6 T>G	10	50678291	50678291	T	G	ERCC6	c.3715A>C	NM_000124.2	NP_000115.1:p.(Lys1239Gln)	NC_000010.10:g.50678291T>G	(Likely) benign	1 lab	f8cb5b413d
12:39756911 KIF21A G>A	12	39756911	39756911	G	A	KIF21A	c.1008C>T	NM_001173464.1	NP_001166935.1:p.(Leu336=)	NC_000012.11:g.39756911G>A	(Likely) benign	1 lab	f8cca629e9
2:96959180 SNRNP200 C>T	2	96959180	96959180	C	T	SNRNP200	c.1910G>A	NM_014014.4	NP_054733.2:p.(Arg637Gln)	NC_000002.11:g.96959180C>T	VUS	1 lab	f8ce1b1f32
7:117175387 CFTR C>G	7	117175387	117175387	C	G	CFTR	c.665C>G	NM_000492.3	NP_000483.3:p.(Ser222Cys)	NC_000007.13:g.117175387C>G	VUS	1 lab	f8ce8b5b7a
1:113051919 WNT2B A>G	1	113051919	113051919	A	G	WNT2B	c.35A>G	NM_024494.3	NP_078613.1:p.(Gln12Arg)	NC_000001.10:g.113051919A>G	(Likely) benign	1 lab	f8ceb5a32e
1:207658863 CR2 A>G	1	207658863	207658863	A	G	CR2	c.3243A>G	NM_001006658.2	NP_001006659.1:p.(Glu1081=)	NC_000001.10:g.207658863A>G	VUS	1 lab	f8cec3bf18
19:33137479 ANKRD27 A>T	19	33137479	33137479	A	T	ANKRD27	c.256T>A	NM_032139.3	NP_115515.2:p.(Phe86Ile)	NC_000019.9:g.33137479A>T	VUS	1 lab	f8ced0ec03
X:16754335 SYAP1 A>G	X	16754335	16754335	A	G	SYAP1	c.341A>G	NM_032796.3	NP_116185.2:p.(Glu114Gly)	NC_000023.10:g.16754335A>G	VUS	1 lab	f8cf65fa50
21:46897801 COL18A1 G>A	21	46897801	46897801	G	A	COL18A1	c.1143G>A	NM_130445.2	NP_569712.2:p.(Ala381=)	NC_000021.8:g.46897801G>A	(Likely) benign	1 lab	f8cf880c92
17:45517940 EFCAB13 A>G	17	45517940	45517940	A	G	EFCAB13	c.2782A>G	NM_152347.5	NP_689560.3:p.(Ile928Val)	NC_000017.10:g.45517940A>G	(Likely) benign	1 lab	f8d0167abe
3:179134347 GNB4 A>G	3	179134347	179134347	A	G	GNB4	c.204-3T>C	NM_021629.3	NP_067642.1:p.?	NC_000003.11:g.179134347A>G	(Likely) benign	1 lab	f8d1f2969f
22:19929268 TXNRD2 T>C	22	19929268	19929268	T	C	TXNRD2	c.59A>G	NM_001282512.2	NP_001269441.1:p.(Gln20Arg)	NC_000022.10:g.19929268T>C	(Likely) benign	1 lab	f8d5047891
16:53686865 RPGRIP1L C>T	16	53686865	53686865	C	T	RPGRIP1L	c.1734G>A	NM_015272.4	NP_056087.2:p.(Gln578=)	NC_000016.9:g.53686865C>T	(Likely) benign	1 lab	f8d6283790
2:135922203 RAB3GAP1 C>T	2	135922203	135922203	C	T	RAB3GAP1	c.2646C>T	NM_001172435.1	NP_001165906.1:p.(Val882=)	NC_000002.11:g.135922203C>T	(Likely) benign	1 lab	f8d6b1f1f6
17:39974753 FKBP10 TC>T	17	39974753	39974755	TC	T	FKBP10	c.703del	NM_021939.4	NP_068758.3:p.(Leu235TrpfsTer11)	NC_000017.10:g.39974755del	(Likely) pathogenic	1 lab	f8d7ebec92
17:73263930 MIF4GD C>T	17	73263930	73263930	C	T	MIF4GD	c.368G>A	NM_001242498.1	NP_001229427.1:p.(Arg123Gln)	NC_000017.10:g.73263930C>T	VUS	1 lab	f8d8c43613
16:18414954 NPIPA8 A>C	16	18414954	18414954	A	C	NPIPA8	c.465T>G	NM_001282511.2	NP_001269440.1:p.(Arg155=)	NC_000016.9:g.18414954A>C	VUS	1 lab	f8d9a1a1b5
18:11867230 GNAL T>C	18	11867230	11867230	T	C	GNAL	c.910+5T>C	NM_182978.3	NP_892023.1:p.?	NC_000018.9:g.11867230T>C	(Likely) benign	1 lab	f8da008bfe
6:42672332 PRPH2 A>G	6	42672332	42672332	A	G	PRPH2	c.599T>C	NM_000322.4	NP_000313.2:p.(Val200Ala)	NC_000006.11:g.42672332A>G	(Likely) pathogenic	1 lab	f8dd2a5921
7:48314591 ABCA13 A>C	7	48314591	48314591	A	C	ABCA13	c.5328A>C	NM_152701.4	NP_689914.3:p.(Thr1776=)	NC_000007.13:g.48314591A>C	(Likely) benign	1 lab	f8dd6fd03c
5:151202418 GLRA1 T>G	5	151202418	151202418	T	G	GLRA1	c.1190A>C	NM_001146040.1	NP_001139512.1:p.(Asn397Thr)	NC_000005.9:g.151202418T>G	(Likely) benign	1 lab	f8de4d3242
X:77245417 ATP7A A>T	X	77245417	77245417	A	T	ATP7A	c.1299A>T	NM_000052.6	NP_000043.4:p.(Gly433=)	NC_000023.10:g.77245417A>T	(Likely) benign	1 lab	f8dedf234c
7:5568182 ACTB G>A	7	5568182	5568182	G	A	ACTB	c.532C>T	NM_001101.3	NP_001092.1:p.(Leu178=)	NC_000007.13:g.5568182G>A	(Likely) benign	1 lab	f8e04106cb
8:33247055 POFUT3 G>A	8	33247055	33247055	G	A	POFUT3	c.638C>T	NM_032664.3	NP_116053.3:p.(Pro213Leu)	NC_000008.10:g.33247055G>A	VUS	1 lab	f8e131e85b
1:10179583 UBE4B C>T	1	10179583	10179583	C	T	UBE4B	c.1351C>T	NM_001105562.3	NP_001099032.1:p.(Pro451Ser)	NC_000001.10:g.10179583C>T	VUS	1 lab	f8e192fa25
1:175299249 TNR G>A	1	175299249	175299249	G	A	TNR	c.3754C>T	NM_003285.2	NP_003276.3:p.(Leu1252=)	NC_000001.10:g.175299249G>A	(Likely) benign	1 lab	f8e49b0a06
19:46270033 SIX5 A>G	19	46270033	46270033	A	G	SIX5	c.1184T>C	NM_175875.4	NP_787071.2:p.(Leu395Pro)	NC_000019.9:g.46270033A>G	VUS	1 lab	f8e52e49e4
2:27898497 SLC4A1AP C>T	2	27898497	27898497	C	T	SLC4A1AP	c.1444C>T	NM_018158.2	NP_060628.2:p.(Arg482Cys)	NC_000002.11:g.27898497C>T	VUS	1 lab	f8e5d49c6e
21:19687482 TMPRSS15 G>A	21	19687482	19687482	G	A	TMPRSS15	c.2013C>T	NM_002772.2	NP_002763.2:p.(Gly671=)	NC_000021.8:g.19687482G>A	(Likely) benign	1 lab	f8e6d7c126
10:73326641 CDH23 G>A	10	73326641	73326641	G	A	CDH23	c.572G>A	NM_022124.5	NP_071407.4:p.(Arg191Gln)	NC_000010.10:g.73326641G>A	(Likely) benign	1 lab	f8e7273c62
X:129799670 ENOX2 G>T	X	129799670	129799670	G	T	ENOX2	c.1048C>A	NM_182314.2	NP_872114.1:p.(His350Asn)	NC_000023.10:g.129799670G>T	VUS	1 lab	f8e8a46c13
1:47737930 STIL C>T	1	47737930	47737930	C	T	STIL	c.2218-17G>A	NM_001048166.1	NP_001041631.1:p.?	NC_000001.10:g.47737930C>T	(Likely) benign	1 lab	f8e8c0c4fc
9:79975486 VPS13A A>C	9	79975486	79975486	A	C	VPS13A	c.8140A>C	NM_033305.2	NP_150648.2:p.(Arg2714=)	NC_000009.11:g.79975486A>C	(Likely) benign	1 lab	f8e8ed5295
2:228116076 COL4A3 A>G	2	228116076	228116076	A	G	COL4A3	c.634A>G	NM_000091.4	NP_000082.2:p.(Arg212Gly)	NC_000002.11:g.228116076A>G	VUS	1 lab	f8e9c2b250
8:20112361 LZTS1 T>C	8	20112361	20112361	T	C	LZTS1	c.332A>G	NM_021020.4	NP_066300.1:p.(Asn111Ser)	NC_000008.10:g.20112361T>C	(Likely) benign	1 lab	f8e9f9b18e
4:151827032 LRBA G>A	4	151827032	151827032	G	A	LRBA	c.1713C>T	NM_001199282.2	NP_001186211.2:p.(His571=)	NC_000004.11:g.151827032G>A	(Likely) benign	1 lab	f8ea555c3c
19:6713306 C3 C>T	19	6713306	6713306	C	T	C3	c.897G>A	NM_000064.2	NP_000055.2:p.(Glu299=)	NC_000019.9:g.6713306C>T	(Likely) benign	1 lab	f8ea6c2975
11:17660027 OTOG C>A	11	17660027	17660027	C	A	OTOG	c.7861C>A	NM_001277269.1	NP_001264198.1:p.(Gln2621Lys)	NC_000011.9:g.17660027C>A	(Likely) benign	1 lab	f8eb1553ae
5:32739040 NPR3 A>T	5	32739040	32739040	A	T	NPR3	c.963A>T	NM_001204375.2	NP_001191304.1:p.(Thr321=)	NC_000005.9:g.32739040A>T	(Likely) benign	1 lab	f8eb30c688
7:75614391 POR T>G	7	75614391	75614391	T	G	POR	c.1264T>G	NM_000941.2	NP_000932.3:p.(Trp422Gly)	NC_000007.13:g.75614391T>G	VUS	1 lab	f8eb79f47b
12:56566210 SMARCC2 A>G	12	56566210	56566210	A	G	SMARCC2	c.1833+2T>C	NM_003075.4	NP_003066.2:p.?	NC_000012.11:g.56566210A>G	(Likely) pathogenic	1 lab	f8ee12e7c5
X:24734510 POLA1 T>C	X	24734510	24734510	T	C	POLA1	c.557T>C	NM_001330360.1	NP_001317289.1:p.(Ile186Thr)	NC_000023.10:g.24734510T>C	(Likely) benign	1 lab	f8ee5d109b
10:79784781 POLR3A G>A	10	79784781	79784781	G	A	POLR3A	c.438C>T	NM_007055.3	NP_008986.2:p.(Ile146=)	NC_000010.10:g.79784781G>A	(Likely) benign	1 lab	f8ee633e70
6:166836803 RPS6KA2 G>A	6	166836803	166836803	G	A	RPS6KA2	c.1759C>T	NM_001318936.1	NP_001305865.1:p.(Arg587Cys)	NC_000006.11:g.166836803G>A	VUS	1 lab	f8ef8d92fd
17:29667520 NF1 C>G	17	29667520	29667520	C	G	NF1	c.6859-3C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29667520C>G	VUS	1 lab	f8ef91790f
19:1496277 REEP6 C>G	19	1496277	1496277	C	G	REEP6	c.349-7C>G	NM_001329556.2	NP_001316485.1:p.?	NC_000019.9:g.1496277C>G	VUS	1 lab	f8f091e840
9:131862944 CRAT C>T	9	131862944	131862944	C	T	CRAT	c.767G>A	NM_004003.3	NP_003994.2:p.(Arg256His)	NC_000009.11:g.131862944C>T	VUS	1 lab	f8f3eaac5e
8:2048833 MYOM2 C>T	8	2048833	2048833	C	T	MYOM2	c.2608C>T	NM_003970.4	NP_003961.3:p.(Arg870Cys)	NC_000008.10:g.2048833C>T	VUS	1 lab	f8f6712516
8:126093970 WASHC5 G>A	8	126093970	126093970	G	A	WASHC5	c.451C>T	NM_014846.3	NP_055661.3:p.(Leu151=)	NC_000008.10:g.126093970G>A	(Likely) benign	1 lab	f8f6b09175
4:118006405 TRAM1L1 C>A	4	118006405	118006405	C	A	TRAM1L1	c.145G>T	NM_152402.2	NP_689615.2:p.(Val49Leu)	NC_000004.11:g.118006405C>A	(Likely) benign	1 lab	f8f6d34ccc
3:132390931 UBA5 A>G	3	132390931	132390931	A	G	UBA5	c.722A>G	NM_024818.4	NP_079094.1:p.(Glu241Gly)	NC_000003.11:g.132390931A>G	VUS	1 lab	f8f792b5d9
2:74074510 STAMBP G>A	2	74074510	74074510	G	A	STAMBP	c.376-4G>A	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74074510G>A	(Likely) benign	1 lab	f8f8ec9cfd
17:29588710 NF1 A>G	17	29588710	29588710	A	G	NF1	c.4515-19A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29588710A>G	(Likely) benign	1 lab	f8f92faa21
19:54672410 TMC4 C>T	19	54672410	54672410	C	T	TMC4	c.461-4G>A	NM_001145303.2	NP_001138775.2:p.?	NC_000019.9:g.54672410C>T	(Likely) benign	1 lab	f8fa85d04a
17:29586091 NF1 A>C	17	29586091	29586091	A	C	NF1	c.4311A>C	NM_000267.3	NP_000258.1:p.(Glu1437Asp)	NC_000017.10:g.29586091A>C	(Likely) pathogenic	1 lab	f8fc3cd537
1:160249859 PEX19 C>T	1	160249859	160249859	C	T	PEX19	c.771+1G>A	NM_002857.3	NP_002848.1:p.?	NC_000001.10:g.160249859C>T	(Likely) pathogenic	1 lab	f8fd98e92d
9:140991002 CACNA1B C>T	9	140991002	140991002	C	T	CACNA1B	c.5161C>T	NM_000718.3	NP_000709.1:p.(Leu1721=)	NC_000009.11:g.140991002C>T	(Likely) benign	1 lab	f8fdaa3047
14:102506064 DYNC1H1 C>T	14	102506064	102506064	C	T	DYNC1H1	c.11685C>T	NM_001376.4	NP_001367.2:p.(Thr3895=)	NC_000014.8:g.102506064C>T	(Likely) benign	1 lab	f8fe4fbba7
7:128049922 IMPDH1 C>G	7	128049922	128049922	C	G	IMPDH1	c.34G>C	NM_000883.3	NP_000874.2:p.(Gly12Arg)	NC_000007.13:g.128049922C>G	VUS	1 lab	f8ff4704c7
2:166773799 TTC21B A>G	2	166773799	166773799	A	G	TTC21B	c.1867T>C	NM_024753.4	NP_079029.3:p.(Leu623=)	NC_000002.11:g.166773799A>G	(Likely) benign	1 lab	f9015753ee
6:56513409 DST T>C	6	56513409	56513409	T	C	DST	c.1414A>G	NM_001144769.2	NP_001138241.1:p.(Met472Val)	NC_000006.11:g.56513409T>C	VUS	1 lab	f9016f9569
1:243668575 AKT3 G>C	1	243668575	243668575	G	C	AKT3				NC_000001.10:g.243668575G>C	(Likely) benign	1 lab	f902c86086
5:13871757 DNAH5 G>T	5	13871757	13871757	G	T	DNAH5	c.3514C>A	NM_001369.2	NP_001360.1:p.(Gln1172Lys)	NC_000005.9:g.13871757G>T	(Likely) benign	1 lab	f902e79f9b
1:17331177 ATP13A2 C>T	1	17331177	17331177	C	T	ATP13A2	c.477+10G>A	NM_022089.2	NP_071372.1:p.?	NC_000001.10:g.17331177C>T	(Likely) benign	1 lab	f9045bef5a
19:17690381 COLGALT1 C>T	19	17690381	17690381	C	T	COLGALT1	c.1357C>T	NM_024656.4	NP_078932.2:p.(Arg453Trp)	NC_000019.9:g.17690381C>T	(Likely) benign	1 lab	f9054854de
5:13714568 DNAH5 G>A	5	13714568	13714568	G	A	DNAH5	c.13071C>T	NM_001369.2	NP_001360.1:p.(Ala4357=)	NC_000005.9:g.13714568G>A	(Likely) benign	1 lab	f9067da7a1
13:25484020 CPAP C>T	13	25484020	25484020	C	T	CPAP	c.773G>A	NM_018451.4	NP_060921.3:p.(Arg258His)	NC_000013.10:g.25484020C>T	(Likely) benign	1 lab	f906c54c63
13:32906620 BRCA2 A>G	13	32906620	32906620	A	G	BRCA2	c.1005A>G	NM_000059.3	NP_000050.2:p.(Glu335=)	NC_000013.10:g.32906620A>G	(Likely) benign	1 lab	f9097f3aa2
11:17517160 USH1C C>T	11	17517160	17517160	C	T	USH1C	c.2611G>A	NM_153676.3	NP_710142.1:p.(Ala871Thr)	NC_000011.9:g.17517160C>T	(Likely) benign	1 lab	f90a5ca99d
17:20769945 CCDC144NL A>T	17	20769945	20769945	A	T	CCDC144NL	c.487T>A	NM_001004306.2	NP_001004306.1:p.(Cys163Ser)	NC_000017.10:g.20769945A>T	(Likely) benign	1 lab	f90aa88725
17:34072529 GAS2L2 G>A	17	34072529	34072529	G	A	GAS2L2	c.1987C>T	NM_139285.3	NP_644814.1:p.(Pro663Ser)	NC_000017.10:g.34072529G>A	VUS	1 lab	f90bf7dc92
X:147967478 AFF2 C>T	X	147967478	147967478	C	T	AFF2	c.1322C>T	NM_002025.3	NP_002016.2:p.(Thr441Ile)	NC_000023.10:g.147967478C>T	(Likely) benign	1 lab	f90e1fb7b3
X:82764178 POU3F4 G>T	X	82764178	82764178	G	T	POU3F4	c.846G>T	NM_000307.4	NP_000298.3:p.(Arg282=)	NC_000023.10:g.82764178G>T	(Likely) benign	1 lab	f912c4c940
12:116421284 MED13L G>A	12	116421284	116421284	G	A	MED13L	c.4593C>T	NM_015335.4	NP_056150.1:p.(Thr1531=)	NC_000012.11:g.116421284G>A	(Likely) benign	1 lab	f912e275bc
8:61766996 CHD7 C>T	8	61766996	61766996	C	T	CHD7				NC_000008.10:g.61766996C>T	(Likely) pathogenic	1 lab	f97f8f0738
7:73461024 ELN AGGAGTT>A	7	73461024	73461033	AGGAGTT	A	ELN	c.574_579del	NM_000501.4	NP_000492.2:p.(Val192_Gly193del)	NC_000007.13:g.73461028_73461033del	VUS	1 lab	f913ca8143
6:7569544 DSP G>A	6	7569544	7569544	G	A	DSP	c.1545G>A	NM_004415.2	NP_004406.2:p.(Pro515=)	NC_000006.11:g.7569544G>A	(Likely) benign	1 lab	f915f0c34f
20:17640776 MISSING G>A	20	17640776	17640776	G	A	MISSING				NC_000020.10:g.17640776G>A	VUS	1 lab	f9160805f3
17:29553451 NF1 A>C	17	29553451	29553451	A	C	NF1	c.2002-2A>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29553451A>C	(Likely) pathogenic	1 lab	f9173dec3a
16:31090499 ZNF646 G>T	16	31090499	31090499	G	T	ZNF646	c.2854G>T	NM_014699.3	NP_055514.3:p.(Asp952Tyr)	NC_000016.9:g.31090499G>T	VUS	1 lab	f917b4a4d0
11:6977377 ZNF215 G>A	11	6977377	6977377	G	A	ZNF215	c.1169G>A	NM_013250.4	NP_037382.2:p.(Arg390Gln)	NC_000011.9:g.6977377G>A	(Likely) benign	1 lab	f918c423d5
6:145051577 UTRN A>G	6	145051577	145051577	A	G	UTRN	c.7894A>G	NM_007124.2	NP_009055.2:p.(Ile2632Val)	NC_000006.11:g.145051577A>G	(Likely) benign	1 lab	f9193ba3de
13:23905024 SACS GC>G	13	23905024	23905026	GC	G	SACS	c.12990del	NM_014363.6	NP_055178.3:p.(Arg4330SerfsTer5)	NC_000013.10:g.23905026del	VUS	1 lab	f91949e03e
9:135778167 TSC1 TG>T	9	135778167	135778168	TG	T	TSC1	c.2215del	NM_000368.5	NP_000359.1:p.(Gln739SerfsTer2)	NC_000009.11:g.135778168del	(Likely) pathogenic	1 lab	f91a673b56
5:138223228 CTNNA1 A>G	5	138223228	138223228	A	G	CTNNA1	c.1193A>G	NM_001323982.1	NP_001310911.1:p.(Asn398Ser)	NC_000005.9:g.138223228A>G	(Likely) benign	1 lab	f91afe9073
17:26864264 FOXN1 G>A	17	26864264	26864264	G	A	FOXN1	c.1757G>A	NM_003593.2	NP_003584.2:p.(Cys586Tyr)	NC_000017.10:g.26864264G>A	VUS	1 lab	f91c200fba
10:27431377 YME1L1 G>A	10	27431377	27431377	G	A	YME1L1	c.540C>T	NM_139312.2	NP_647473.1:p.(Cys180=)	NC_000010.10:g.27431377G>A	(Likely) benign	1 lab	f91d27aa7b
15:31334275 TRPM1 G>A	15	31334275	31334275	G	A	TRPM1	c.2017C>T	NM_001252020.1	NP_001238949.1:p.(Arg673Ter)	NC_000015.9:g.31334275G>A	(Likely) pathogenic	1 lab	f91d42b2c2
6:132198199 ENPP1 T>C	6	132198199	132198199	T	C	ENPP1	c.1791T>C	NM_006208.3	NP_006199.2:p.(Asn597=)	NC_000006.11:g.132198199T>C	(Likely) benign	1 lab	f91e4a8bbe
X:78616913 ITM2A G>A	X	78616913	78616913	G	A	ITM2A	c.616C>T	NM_004867.4	NP_004858.1:p.(Arg206Cys)	NC_000023.10:g.78616913G>A	VUS	1 lab	f91e4f93b9
X:140994376 MAGEC1 A>G	X	140994376	140994376	A	G	MAGEC1	c.1186A>G	NM_005462.4	NP_005453.2:p.(Thr396Ala)	NC_000023.10:g.140994376A>G	(Likely) benign	1 lab	f91f017ccc
X:77271271 ATP7A A>T	X	77271271	77271271	A	T	ATP7A	c.2519A>T	NM_000052.6	NP_000043.4:p.(Glu840Val)	NC_000023.10:g.77271271A>T	(Likely) benign	1 lab	f91ff7eb8c
4:107152917 TBCK A>T	4	107152917	107152917	A	T	TBCK	c.1143T>A	NM_001290768.1	NP_001277697.1:p.(Ala381=)	NC_000004.11:g.107152917A>T	(Likely) benign	1 lab	f9205aa677
9:37899950 SLC25A51 T>TAA	9	37899950	37899963	T	TAA	SLC25A51	c.-164-5_-164-4dup	NM_033412.4	NP_219480.1:p.?	NC_000009.11:g.37899962_37899963dup	(Likely) benign	1 lab	f920618a82
1:196879588 CFHR4 T>G	1	196879588	196879588	T	G	CFHR4	c.977T>G	NM_001201550.3	NP_001188479.1:p.(Leu326Trp)	NC_000001.10:g.196879588T>G	VUS	1 lab	f9236a6bf4
21:35237582 ITSN1 G>A	21	35237582	35237582	G	A	ITSN1	c.4018G>A	NM_003024.2	NP_003015.2:p.(Ala1340Thr)	NC_000021.8:g.35237582G>A	VUS	1 lab	f9243e575a
1:236157059 NID1 G>A	1	236157059	236157059	G	A	NID1	c.2641C>T	NM_002508.2	NP_002499.2:p.(His881Tyr)	NC_000001.10:g.236157059G>A	(Likely) benign	1 lab	f9265d22e4
20:50273483 ATP9A G>A	20	50273483	50273483	G	A	ATP9A	c.1500C>T	NM_006045.2	NP_006036.1:p.(Pro500=)	NC_000020.10:g.50273483G>A	(Likely) benign	1 lab	f926ea4974
14:89307408 TTC8 T>C	14	89307408	89307408	T	C	TTC8	c.357T>C	NM_144596.3	NP_653197.2:p.(Ile119=)	NC_000014.8:g.89307408T>C	(Likely) benign	1 lab	f92a123f7d
X:100608205 BTK T>C	X	100608205	100608205	T	C	BTK	c.1987A>G	NM_001287344.1	NP_001274273.1:p.(Ile663Val)	NC_000023.10:g.100608205T>C	(Likely) benign	1 lab	f92be506ba
X:124454707 TEX13C C>T	X	124454707	124454707	C	T	TEX13C	c.739C>T	NM_001195272.2	NP_001182201.1:p.(Pro247Ser)	NC_000023.10:g.124454707C>T	VUS	1 lab	f92c0175c8
7:19156529 TWIST1 G>A	7	19156529	19156529	G	A	TWIST1	c.416C>T	NM_000474.3	NP_000465.1:p.(Pro139Leu)	NC_000007.13:g.19156529G>A	(Likely) pathogenic	1 lab	f92e4cfb03
X:48418076 TBC1D25 C>T	X	48418076	48418076	C	T	TBC1D25	c.606C>T	NM_001348265.1	NP_001335194.1:p.(Arg202=)	NC_000023.10:g.48418076C>T	VUS	1 lab	f92f1dcdf8
2:25384618 POMC A>G	2	25384618	25384618	A	G	POMC	c.136T>C	NM_001319204.1	NP_001306133.1:p.(Cys46Arg)	NC_000002.11:g.25384618A>G	VUS	1 lab	f92f4f0a1a
15:22743365 GOLGA6L1 A>G	15	22743365	22743365	A	G	GOLGA6L1	c.1750A>G	NM_001001413.3	NP_001001413.3:p.(Lys584Glu)	NC_000015.9:g.22743365A>G	(Likely) benign	1 lab	f9307827d2
5:67576564 PIK3R1 G>A	5	67576564	67576564	G	A	PIK3R1	c.836+7G>A	NM_181523.2	NP_852664.1:p.?	NC_000005.9:g.67576564G>A	(Likely) benign	1 lab	f9312c5e29
15:73615232 HCN4 G>A	15	73615232	73615232	G	A	HCN4	c.3202C>T	NM_005477.2	NP_005468.1:p.(Arg1068Cys)	NC_000015.9:g.73615232G>A	VUS	1 lab	f9318e5188
17:78079671 GAA C>T	17	78079671	78079671	C	T	GAA	c.670C>T	NM_000152.3	NP_000143.2:p.(Arg224Trp)	NC_000017.10:g.78079671C>T	(Likely) pathogenic	1 lab	f931a21077
X:62926294 ARHGEF9 C>T	X	62926294	62926294	C	T	ARHGEF9	c.225G>A	NM_015185.2	NP_056000.1:p.(Gly75=)	NC_000023.10:g.62926294C>T	(Likely) benign	1 lab	f931ac67d8
19:32927414 DPY19L3 C>T	19	32927414	32927414	C	T	DPY19L3	c.391C>T	NM_207325.2	NP_997208.2:p.(Arg131Ter)	NC_000019.9:g.32927414C>T	VUS	1 lab	f936b706bb
17:77808595 CBX4 G>A	17	77808595	77808595	G	A	CBX4	c.846C>T	NM_003655.3	NP_003646.2:p.(Gly282=)	NC_000017.10:g.77808595G>A	VUS	1 lab	f9378e35e1
12:52696929 KRT86 C>A	12	52696929	52696929	C	A	KRT86	c.415C>A	NM_001320198.1	NP_001307127.1:p.(Gln139Lys)	NC_000012.11:g.52696929C>A	(Likely) benign	1 lab	f938189902
X:44938557 KDM6A T>C	X	44938557	44938557	T	C	KDM6A	c.3261T>C	NM_001291415.1	NP_001278344.1:p.(Tyr1087=)	NC_000023.10:g.44938557T>C	(Likely) benign	1 lab	f939e292f8
11:1266336 MUC5B C>A	11	1266336	1266336	C	A	MUC5B	c.8226C>A	NM_002458.2	NP_002449.2:p.(Thr2742=)	NC_000011.9:g.1266336C>A	(Likely) benign	1 lab	f93a921548
10:99510105 ZFYVE27 G>A	10	99510105	99510105	G	A	ZFYVE27	c.682G>A	NM_144588.6	NP_653189.3:p.(Ala228Thr)	NC_000010.10:g.99510105G>A	VUS	1 lab	f93caf7f25
3:14173119 TMEM43 G>A	3	14173119	14173119	G	A	TMEM43	c.337G>A	NM_024334.2	NP_077310.1:p.(Val113Met)	NC_000003.11:g.14173119G>A	VUS	1 lab	f93cd264d1
7:103294614 RELN T>C	7	103294614	103294614	T	C	RELN	c.1480A>G	NM_005045.3	NP_005036.2:p.(Ile494Val)	NC_000007.13:g.103294614T>C	(Likely) benign	1 lab	f93d88f1fb
15:96875609 NR2F2 G>T	15	96875609	96875609	G	T	NR2F2	c.275G>T	NM_021005.4	NP_066285.1:p.(Gly92Val)	NC_000015.9:g.96875609G>T	VUS	1 lab	f93da71328
19:44039457 ZNF575 A>G	19	44039457	44039457	A	G	ZNF575	c.356A>G	NM_174945.2	NP_777605.1:p.(His119Arg)	NC_000019.9:g.44039457A>G	VUS	1 lab	f93e7922b9
1:176659525 PAPPA2 G>A	1	176659525	176659525	G	A	PAPPA2	c.2390G>A	NM_020318.2	NP_064714.2:p.(Arg797His)	NC_000001.10:g.176659525G>A	(Likely) benign	1 lab	f93eb7c645
2:179457373 TTN T>G	2	179457373	179457373	T	G	TTN	c.59359A>C	NM_001267550.1	NP_001254479.1:p.(Ile19787Leu)	NC_000002.11:g.179457373T>G	VUS	1 lab	f93ef65439
X:135741350 CD40LG C>G	X	135741350	135741350	C	G	CD40LG	c.562C>G	NM_000074.2	NP_000065.1:p.(Pro188Ala)	NC_000023.10:g.135741350C>G	VUS	1 lab	f9407ffe55
X:31496397 DMD G>A	X	31496397	31496397	G	A	DMD	c.8394C>T	NM_004010.3	NP_004001.1:p.(His2798=)	NC_000023.10:g.31496397G>A	(Likely) benign	1 lab	f942ca40cf
7:100855231 PLOD3 C>T	7	100855231	100855231	C	T	PLOD3	c.1128G>A	NM_001084.4	NP_001075.1:p.(Met376Ile)	NC_000007.13:g.100855231C>T	(Likely) benign	1 lab	f943bc2257
19:12757550 MAN2B1 G>C	19	12757550	12757550	G	C	MAN2B1	c.2924-4C>G	NM_000528.3	NP_000519.2:p.?	NC_000019.9:g.12757550G>C	(Likely) benign	1 lab	f9464dac42
11:88925242 TYR G>C	11	88925242	88925242	G	C	TYR	c.1036+656G>C	NM_000372.4	NP_000363.1:p.?	NC_000011.9:g.88925242G>C	(Likely) benign	1 lab	f946c49dfb
3:193360643 OPA1 A>G	3	193360643	193360643	A	G	OPA1	c.1230+9A>G	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193360643A>G	VUS	1 lab	f946eaf216
11:58920729 FAM111A A>G	11	58920729	58920729	A	G	FAM111A	c.1588A>G	NM_022074.3	NP_071357.2:p.(Ile530Val)	NC_000011.9:g.58920729A>G	(Likely) benign	1 lab	f947404c98
X:118603844 SLC25A5 T>G	X	118603844	118603844	T	G	SLC25A5	c.332T>G	NM_001152.4	NP_001143.2:p.(Leu111Arg)	NC_000023.10:g.118603844T>G	(Likely) benign	1 lab	f947b3ccc6
7:48314092 ABCA13 A>T	7	48314092	48314092	A	T	ABCA13	c.4829A>T	NM_152701.4	NP_689914.3:p.(His1610Leu)	NC_000007.13:g.48314092A>T	(Likely) benign	1 lab	f949824f0e
9:137674528 COL5A1 C>A	9	137674528	137674528	C	A	COL5A1	c.2446C>A	NM_000093.4	NP_000084.3:p.(Pro816Thr)	NC_000009.11:g.137674528C>A	VUS	1 lab	f94a6e4858
1:152283533 FLG C>G	1	152283533	152283533	C	G	FLG	c.3829G>C	NM_002016.1	NP_002007.1:p.(Glu1277Gln)	NC_000001.10:g.152283533C>G	(Likely) benign	1 lab	f94a6efd5f
X:79962936 BRWD3 T>C	X	79962936	79962936	T	C	BRWD3	c.2542A>G	NM_153252.4	NP_694984.4:p.(Ser848Gly)	NC_000023.10:g.79962936T>C	(Likely) benign	1 lab	f94ddf37c6
X:25031466 ARX C>G	X	25031466	25031466	C	G	ARX	c.646G>C	NM_139058.2	NP_620689.1:p.(Ala216Pro)	NC_000023.10:g.25031466C>G	(Likely) benign	1 lab	f951ecc5f3
2:234676504 UGT1A1 C>T	2	234676504	234676504	C	T	UGT1A1	c.1006C>T	NM_000463.2	NP_000454.1:p.(Arg336Trp)	NC_000002.11:g.234676504C>T	(Likely) pathogenic	1 lab	f952d85aa3
21:28214701 ADAMTS1 C>T	21	28214701	28214701	C	T	ADAMTS1	c.1034G>A	NM_006988.5	NP_008919.3:p.(Arg345Gln)	NC_000021.8:g.28214701C>T	VUS	1 lab	f954bec58b
X:29301203 IL1RAPL1 C>T	X	29301203	29301203	C	T	IL1RAPL1	c.231C>T	NM_014271.3	NP_055086.1:p.(Tyr77=)	NC_000023.10:g.29301203C>T	(Likely) benign	1 lab	f95592e314
16:89348510 ANKRD11 A>G	16	89348510	89348510	A	G	ANKRD11	c.4440T>C	NM_001256182.1	NP_001243111.1:p.(His1480=)	NC_000016.9:g.89348510A>G	(Likely) benign	1 lab	f956224e2d
11:119148940 CBL A>G	11	119148940	119148940	A	G	CBL	c.1160A>G	NM_005188.3	NP_005179.2:p.(Asn387Ser)	NC_000011.9:g.119148940A>G	VUS	1 lab	f95664727b
16:57992379 CNGB1 A>G	16	57992379	57992379	A	G	CNGB1	c.772T>C	NM_001297.4	NP_001288.3:p.(Trp258Arg)	NC_000016.9:g.57992379A>G	VUS	1 lab	f9572ce1e2
11:93529634 MED17 T>A	11	93529634	93529634	T	A	MED17	c.1071T>A	NM_004268.4	NP_004259.3:p.(Phe357Leu)	NC_000011.9:g.93529634T>A	(Likely) benign	1 lab	f959396d71
17:27580775 CRYBA1 G>A	17	27580775	27580775	G	A	CRYBA1	c.475G>A	NM_005208.4	NP_005199.2:p.(Gly159Ser)	NC_000017.10:g.27580775G>A	(Likely) benign	1 lab	f959c7449d
12:1963205 CACNA2D4 C>T	12	1963205	1963205	C	T	CACNA2D4	c.2158G>A	NM_172364.4	NP_758952.4:p.(Glu720Lys)	NC_000012.11:g.1963205C>T	VUS	1 lab	f959d0c72a
2:170145557 LRP2 T>C	2	170145557	170145557	T	C	LRP2	c.1021A>G	NM_004525.3	NP_004516.2:p.(Asn341Asp)	NC_000002.11:g.170145557T>C	VUS	1 lab	f95ab1a3f6
14:58896128 KIAA0586 G>C	14	58896128	58896128	G	C	KIAA0586	c.247G>C	NM_001329943.2	NP_001316872.1:p.(Glu83Gln)	NC_000014.8:g.58896128G>C	VUS	1 lab	f95bb3cd80
16:3141823 ZSCAN10 T>G	16	3141823	3141823	T	G	ZSCAN10	c.671A>C	NM_032805.3	NP_116194.2:p.(Gln224Pro)	NC_000016.9:g.3141823T>G	VUS	1 lab	f95e57f592
7:100229441 TFR2 G>A	7	100229441	100229441	G	A	TFR2	c.1094C>T	NM_003227.3	NP_003218.2:p.(Ser365Phe)	NC_000007.13:g.100229441G>A	(Likely) benign	1 lab	f95f15d692
2:179603927 TTN T>G	2	179603927	179603927	T	G	TTN	c.14033A>C	NM_001267550.1	NP_001254479.1:p.(Glu4678Ala)	NC_000002.11:g.179603927T>G	VUS	1 lab	f960462c70
X:68058691 EFNB1 C>G	X	68058691	68058691	C	G	EFNB1	c.360C>G	NM_004429.4	NP_004420.1:p.(Asn120Lys)	NC_000023.10:g.68058691C>G	(Likely) pathogenic	1 lab	f960605f20
12:109625976 ACACB CTCCTTCCT>C	12	109625976	109626039	CTCCTTCCT	C	ACACB	c.2144+65_2144+72del	NM_001093.4	NP_001084.3:p.?	NC_000012.11:g.109626032_109626039del	(Likely) benign	1 lab	f961725d96
6:162206914 PRKN T>C	6	162206914	162206914	T	C	PRKN	c.761A>G	NM_004562.2	NP_004553.2:p.(Asn254Ser)	NC_000006.11:g.162206914T>C	(Likely) benign	1 lab	f9620a1893
2:74140766 ACTG2 G>A	2	74140766	74140766	G	A	ACTG2	c.606G>A	NM_001615.3	NP_001606.1:p.(Val202=)	NC_000002.11:g.74140766G>A	(Likely) benign	1 lab	f962747f06
X:70836275 CXCR3 C>T	X	70836275	70836275	C	T	CXCR3	c.1188G>A	NM_001142797.1	NP_001136269.1:p.(Ser396=)	NC_000023.10:g.70836275C>T	(Likely) benign	1 lab	f966a85205
6:109787647 ZBTB24 G>A	6	109787647	109787647	G	A	ZBTB24	c.1501C>T	NM_014797.2	NP_055612.2:p.(Arg501Cys)	NC_000006.11:g.109787647G>A	VUS	1 lab	f96972676c
2:44126689 LRPPRC T>C	2	44126689	44126689	T	C	LRPPRC	c.3625A>G	NM_133259.3	NP_573566.2:p.(Lys1209Glu)	NC_000002.11:g.44126689T>C	(Likely) benign	1 lab	f969995a2a
1:156145003 SEMA4A C>T	1	156145003	156145003	C	T	SEMA4A	c.1561C>T	NM_001193300.1	NP_001180229.1:p.(Arg521Ter)	NC_000001.10:g.156145003C>T	(Likely) pathogenic	1 lab	f96a3a156a
7:5428094 TNRC18 G>A	7	5428094	5428094	G	A	TNRC18	c.1361C>T	NM_001080495.2	NP_001073964.2:p.(Pro454Leu)	NC_000007.13:g.5428094G>A	VUS	1 lab	f96dd8a379
4:122768605 BBS7 C>A	4	122768605	122768605	C	A	BBS7	c.991G>T	NM_176824.2	NP_789794.1:p.(Glu331Ter)	NC_000004.11:g.122768605C>A	(Likely) pathogenic	1 lab	f96de8e524
14:74983553 LTBP2 G>A	14	74983553	74983553	G	A	LTBP2	c.2880C>T	NM_000428.2	NP_000419.1:p.(Tyr960=)	NC_000014.8:g.74983553G>A	(Likely) benign	1 lab	f96e08c1ed
1:216052322 USH2A G>A	1	216052322	216052322	G	A	USH2A	c.8342C>T	NM_206933.2	NP_996816.2:p.(Thr2781Ile)	NC_000001.10:g.216052322G>A	(Likely) benign	1 lab	f96e0c551e
2:232995412 DIS3L2 C>G	2	232995412	232995412	C	G	DIS3L2	c.685C>G	NM_152383.4	NP_689596.4:p.(Leu229Val)	NC_000002.11:g.232995412C>G	(Likely) benign	1 lab	f96fb87ef2
5:140767629 MISSING G>C	5	140767629	140767629	G	C	MISSING				NC_000005.9:g.140767629G>C	VUS	1 lab	f971147397
7:103207091 RELN C>T	7	103207091	103207091	C	T	RELN	c.4704G>A	NM_005045.3	NP_005036.2:p.(Ala1568=)	NC_000007.13:g.103207091C>T	(Likely) benign	1 lab	f9742607ff
X:45011237 DIPK2B C>T	X	45011237	45011237	C	T	DIPK2B	c.962G>A	NM_176819.4	NP_789789.2:p.(Gly321Asp)	NC_000023.10:g.45011237C>T	VUS	1 lab	f97542a62a
2:211476870 CPS1 G>A	2	211476870	211476870	G	A	CPS1	c.2421G>A	NM_001875.4	NP_001866.2:p.(Glu807=)	NC_000002.11:g.211476870G>A	(Likely) benign	1 lab	f97748ee13
18:50912515 DCC G>A	18	50912515	50912515	G	A	DCC	c.2455+7G>A	NM_005215.3	NP_005206.2:p.?	NC_000018.9:g.50912515G>A	(Likely) benign	1 lab	f978c44bea
7:142459871 PRSS1 C>T	7	142459871	142459871	C	T	PRSS1	c.447C>T	NM_002769.4	NP_002760.1:p.(Ser149=)	NC_000007.13:g.142459871C>T	(Likely) benign	1 lab	f979d48990
5:140554321 PCDHB7 A>G	5	140554321	140554321	A	G	PCDHB7	c.1905A>G	NM_018940.3	NP_061763.1:p.(Ala635=)	NC_000005.9:g.140554321A>G	(Likely) benign	1 lab	f97c03c14e
15:23892416 MAGEL2 T>C	15	23892416	23892416	T	C	MAGEL2	c.474A>G	NM_019066.4	NP_061939.3:p.(Pro158=)	NC_000015.9:g.23892416T>C	(Likely) benign	1 lab	f97c5bee39
16:27751803 KATNIP G>A	16	27751803	27751803	G	A	KATNIP	c.2185G>A	NM_015202.3	NP_056017.3:p.(Glu729Lys)	NC_000016.9:g.27751803G>A	VUS	1 lab	f97fca8907
16:85696635 GSE1 A>T	16	85696635	85696635	A	T	GSE1	c.2309A>T	NM_014615.4	NP_055430.1:p.(Glu770Val)	NC_000016.9:g.85696635A>T	(Likely) benign	1 lab	f9801602cf
1:28920546 RAB42 T>TG	1	28920546	28920553	T	TG	RAB42	c.581dup	NM_001193532.2	NP_001180461.1:p.(Val195CysfsTer38)	NC_000001.10:g.28920553dup	VUS	1 lab	f98322683e
17:40695378 NAGLU G>A	17	40695378	40695378	G	A	NAGLU	c.1354G>A	NM_000263.3	NP_000254.2:p.(Glu452Lys)	NC_000017.10:g.40695378G>A	(Likely) pathogenic	1 lab	f9864b7da7
2:26700617 OTOF C>T	2	26700617	26700617	C	T	OTOF	c.2215G>A	NM_194248.2	NP_919224.1:p.(Glu739Lys)	NC_000002.11:g.26700617C>T	VUS	1 lab	f9868250f7
X:63409894 AMER1 C>T	X	63409894	63409894	C	T	AMER1	c.3273G>A	NM_152424.4	NP_689637.3:p.(Arg1091=)	NC_000023.10:g.63409894C>T	(Likely) benign	1 lab	f9877cfc9d
2:172644425 SLC25A12 C>A	2	172644425	172644425	C	A	SLC25A12	c.1618G>T	NM_003705.4	NP_003696.2:p.(Asp540Tyr)	NC_000002.11:g.172644425C>A	VUS	1 lab	f987dab185
13:103524706 ERCC5 G>A	13	103524706	103524706	G	A	ERCC5	c.2837G>A	NM_000123.3	NP_000114.2:p.(Gly946Glu)	NC_000013.10:g.103524706G>A	VUS	1 lab	f98a8448bc
6:152777051 SYNE1 T>C	6	152777051	152777051	T	C	SYNE1	c.2697A>G	NM_182961.3	NP_892006.3:p.(Arg899=)	NC_000006.11:g.152777051T>C	(Likely) benign	1 lab	f98b0f88a8
5:137241887 PKD2L2 T>C	5	137241887	137241887	T	C	PKD2L2	c.747-8T>C	NM_001258449.1	NP_001245378.1:p.?	NC_000005.9:g.137241887T>C	(Likely) benign	1 lab	f98b1ecf26
17:8141762 CTC1 C>A	17	8141762	8141762	C	A	CTC1	c.383G>T	NM_025099.6	NP_079375.3:p.(Cys128Phe)	NC_000017.10:g.8141762C>A	(Likely) benign	1 lab	f98ba0050d
1:12065801 MFN2 G>A	1	12065801	12065801	G	A	MFN2	c.1529G>A	NM_014874.3	NP_055689.1:p.(Arg510Gln)	NC_000001.10:g.12065801G>A	VUS	1 lab	f98c946a40
20:8769096 PLCB1 C>T	20	8769096	8769096	C	T	PLCB1	c.3112C>T	NM_182734.2	NP_877398.1:p.(Leu1038Phe)	NC_000020.10:g.8769096C>T	VUS	1 lab	f98dcfe6d7
14:21542965 ARHGEF40 G>A	14	21542965	21542965	G	A	ARHGEF40	c.1076G>A	NM_018071.4	NP_060541.3:p.(Gly359Glu)	NC_000014.8:g.21542965G>A	(Likely) benign	1 lab	f98e1c7e03
17:44091652 MAPT C>T	17	44091652	44091652	C	T	MAPT	c.959C>T	NM_005910.5	NP_005901.2:p.(Ser320Phe)	NC_000017.10:g.44091652C>T	(Likely) pathogenic	1 lab	f98e6945f5
15:59406783 CCNB2 G>C	15	59406783	59406783	G	C	CCNB2	c.408G>C	NM_004701.4	NP_004692.1:p.(Lys136Asn)	NC_000015.9:g.59406783G>C	(Likely) benign	1 lab	f991fe9413
19:45899489 PPP1R13L C>A	19	45899489	45899489	C	A	PPP1R13L	c.840G>T	NM_006663.4	NP_006654.2:p.(Ser280=)	NC_000019.9:g.45899489C>A	(Likely) benign	1 lab	f992bbf3bd
10:81371595 SFTPA1 C>T	10	81371595	81371595	C	T	SFTPA1	c.14C>T	NM_005411.4	NP_005402.3:p.(Pro5Leu)	NC_000010.10:g.81371595C>T	(Likely) benign	1 lab	f993c18699
17:29550488 NF1 A>G	17	29550488	29550488	A	G	NF1	c.1748A>G	NM_000267.3	NP_000258.1:p.(Lys583Arg)	NC_000017.10:g.29550488A>G	(Likely) pathogenic	1 lab	f9965bd1f9
X:70678134 TAF1 G>A	X	70678134	70678134	G	A	TAF1	c.5048G>A	NM_001286074.1	NP_001273003.1:p.(Arg1683Gln)	NC_000023.10:g.70678134G>A	(Likely) benign	1 lab	f996f06a2f
14:23902427 MYH7 C>T	14	23902427	23902427	C	T	MYH7	c.211G>A	NM_000257.2	NP_000248.2:p.(Val71Met)	NC_000014.8:g.23902427C>T	VUS	1 lab	f99b1fc08c
9:12704564 TYRP1 C>T	9	12704564	12704564	C	T	TYRP1	c.1120C>T	NM_000550.2	NP_000541.1:p.(Arg374Ter)	NC_000009.11:g.12704564C>T	(Likely) pathogenic	1 lab	f99ca29498
9:2087035 SMARCA2 A>G	9	2087035	2087035	A	G	SMARCA2	c.2733A>G	NM_003070.4	NP_003061.3:p.(Gln911=)	NC_000009.11:g.2087035A>G	(Likely) benign	1 lab	f99dc828b6
20:62303912 RTEL1 C>T	20	62303912	62303912	C	T	RTEL1	c.703C>T	NM_001283009.1	NP_001269938.1:p.(Arg235Cys)	NC_000020.10:g.62303912C>T	VUS	1 lab	f99de1d987
14:39565123 SEC23A C>A	14	39565123	39565123	C	A	SEC23A	c.200G>T	NM_006364.3	NP_006355.2:p.(Arg67Leu)	NC_000014.8:g.39565123C>A	VUS	1 lab	f99e10f406
21:45706476 AIRE C>G	21	45706476	45706476	C	G	AIRE				NC_000021.8:g.45706476C>G	VUS	1 lab	f99e6f34a1
20:20269511 CFAP61 G>A	20	20269511	20269511	G	A	CFAP61	c.3055G>A	NM_015585.4	NP_056400.3:p.(Glu1019Lys)	NC_000020.10:g.20269511G>A	VUS	1 lab	f9a05fe757
12:124155857 TCTN2 TG>T	12	124155857	124155863	TG	T	TCTN2	c.76del	NM_024809.5	NP_079085.2:p.(Asp26ThrfsTer27)	NC_000012.11:g.124155863del	(Likely) pathogenic	1 lab	f9a2a26d9f
15:99500605 IGF1R C>T	15	99500605	99500605	C	T	IGF1R	c.4038C>T	NM_000875.4	NP_000866.1:p.(Tyr1346=)	NC_000015.9:g.99500605C>T	(Likely) benign	1 lab	f9a3268829
X:139586128 SOX3 G>A	X	139586128	139586128	G	A	SOX3	c.1098C>T	NM_005634.2	NP_005625.2:p.(Ser366=)	NC_000023.10:g.139586128G>A	(Likely) benign	1 lab	f9a41dc992
14:105416755 AHNAK2 T>G	14	105416755	105416755	T	G	AHNAK2	c.5033A>C	NM_138420.3	NP_612429.2:p.(Glu1678Ala)	NC_000014.8:g.105416755T>G	VUS	1 lab	f9a472f7de
10:101591866 ABCC2 G>A	10	101591866	101591866	G	A	ABCC2	c.3236G>A	NM_000392.5	NP_000383.2:p.(Arg1079Gln)	NC_000010.10:g.101591866G>A	VUS	1 lab	f9a5426d40
10:85968485 CDHR1 G>A	10	85968485	85968485	G	A	CDHR1	c.1168G>A	NM_033100.4	NP_149091.1:p.(Gly390Arg)	NC_000010.10:g.85968485G>A	VUS	1 lab	f9a6542c5c
17:4576394 PELP1 G>A	17	4576394	4576394	G	A	PELP1	c.1892C>T	NM_014389.3	NP_055204.4:p.(Thr631Ile)	NC_000017.10:g.4576394G>A	(Likely) benign	1 lab	f9a663ecff
3:10106494 FANCD2 G>T	3	10106494	10106494	G	T	FANCD2	c.2103G>T	NM_001319984.1	NP_001306913.1:p.(Pro701=)	NC_000003.11:g.10106494G>T	(Likely) benign	1 lab	f9a7c002c6
1:27877329 AHDC1 G>A	1	27877329	27877329	G	A	AHDC1	c.1298C>T	NM_001029882.3	NP_001025053.1:p.(Pro433Leu)	NC_000001.10:g.27877329G>A	VUS	1 lab	f9aa9df5c1
18:47373535 MYO5B G>A	18	47373535	47373535	G	A	MYO5B	c.4440C>T	NM_001080467.2	NP_001073936.1:p.(Leu1480=)	NC_000018.9:g.47373535G>A	(Likely) benign	1 lab	f9aaa55dd8
4:187628904 FAT1 AATTT>A	4	187628904	187628912	AATTT	A	FAT1	c.2074_2077del	NM_005245.4	NP_005236.2:p.(Lys692TyrfsTer34)	NC_000004.11:g.187628909_187628912del	VUS	1 lab	f9add0e91e
1:5947405 NPHP4 T>C	1	5947405	5947405	T	C	NPHP4	c.2426A>G	NM_015102.4	NP_055917.1:p.(Lys809Arg)	NC_000001.10:g.5947405T>C	VUS	1 lab	f9af9b5959
22:38130762 TRIOBP G>A	22	38130762	38130762	G	A	TRIOBP	c.4419G>A	NM_001039141.2	NP_001034230.1:p.(Pro1473=)	NC_000022.10:g.38130762G>A	(Likely) benign	1 lab	f9af9c9205
6:152779932 SYNE1 C>T	6	152779932	152779932	C	T	SYNE1	c.2528G>A	NM_182961.3	NP_892006.3:p.(Arg843His)	NC_000006.11:g.152779932C>T	(Likely) benign	1 lab	f9b00006ed
1:46662534 POMGNT1 A>G	1	46662534	46662534	A	G	POMGNT1	c.236-13T>C	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46662534A>G	(Likely) benign	1 lab	f9b1561352
17:4439703 SPNS2 G>A	17	4439703	4439703	G	A	SPNS2	c.1589G>A	NM_001124758.3	NP_001118230.1:p.(Arg530His)	NC_000017.10:g.4439703G>A	VUS	1 lab	f9b2122d82
2:178682596 PDE11A G>A	2	178682596	178682596	G	A	PDE11A	c.1633C>T	NM_016953.4	NP_058649.3:p.(Arg545Ter)	NC_000002.11:g.178682596G>A	VUS	1 lab	f9b383f07a
11:19209748 CSRP3 C>T	11	19209748	19209748	C	T	CSRP3				NC_000011.9:g.19209748C>T	(Likely) benign	1 lab	f9b4859a77
17:29563044 NF1 G>C	17	29563044	29563044	G	C	NF1	c.3974+5G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29563044G>C	VUS	1 lab	f9b4b81791
4:119259323 PRSS12 ACACTCACCC>A	4	119259323	119259334	ACACTCACCC	A	PRSS12	c.640_641+7del	NM_003619.4	NP_003610.2:p.?	NC_000004.11:g.119259326_119259334del	VUS	1 lab	f9b629fce1
X:21550022 CNKSR2 G>A	X	21550022	21550022	G	A	CNKSR2	c.1140G>A	NM_014927.4	NP_055742.2:p.(Val380=)	NC_000023.10:g.21550022G>A	(Likely) benign	1 lab	f9b6b8730b
1:20971144 PINK1 C>T	1	20971144	20971144	C	T	PINK1	c.938C>T	NM_032409.2	NP_115785.1:p.(Thr313Met)	NC_000001.10:g.20971144C>T	VUS	1 lab	f9b77f58d4
1:27023530 ARID1A C>G	1	27023530	27023530	C	G	ARID1A	c.636C>G	NM_006015.4	NP_006006.3:p.(Tyr212Ter)	NC_000001.10:g.27023530C>G	(Likely) pathogenic	1 lab	f9b842698a
12:122079051 ORAI1 T>C	12	122079051	122079051	T	C	ORAI1	c.408T>C	NM_032790.3	NP_116179.2:p.(Phe136=)	NC_000012.11:g.122079051T>C	(Likely) benign	1 lab	f9bc169852
16:71059297 HYDIN G>A	16	71059297	71059297	G	A	HYDIN	c.3175C>T	NM_001270974.2	NP_001257903.1:p.(Arg1059Ter)	NC_000016.9:g.71059297G>A	(Likely) pathogenic	1 lab	f9bc7a46f5
7:128036742 IMPDH1 T>C	7	128036742	128036742	T	C	IMPDH1	c.1173A>G	NM_000883.3	NP_000874.2:p.(Thr391=)	NC_000007.13:g.128036742T>C	(Likely) benign	1 lab	f9bd3efced
15:91312748 BLM T>TA	15	91312748	91312749	T	TA	BLM	c.2488dup	NM_000057.2	NP_000048.1:p.(Thr830AsnfsTer5)	NC_000015.9:g.91312749dup	(Likely) pathogenic	1 lab	f9bd564099
4:183550011 TENM3 G>A	4	183550011	183550011	G	A	TENM3	c.957G>A	NM_001080477.3	NP_001073946.1:p.(Val319=)	NC_000004.11:g.183550011G>A	(Likely) benign	1 lab	f9c00750b0
X:153044471 PLXNB3 G>A	X	153044471	153044471	G	A	PLXNB3	c.5776G>A	NM_001163257.1	NP_001156729.1:p.(Glu1926Lys)	NC_000023.10:g.153044471G>A	VUS	1 lab	f9c34c2eb1
X:77393341 TAF9B A>G	X	77393341	77393341	A	G	TAF9B	c.310T>C	NM_015975.4	NP_057059.2:p.(Leu104=)	NC_000023.10:g.77393341A>G	(Likely) benign	1 lab	f9c6013f4d
16:2135266 TSC2 C>T	16	2135266	2135266	C	T	TSC2	c.4605C>T	NM_000548.3	NP_000539.2:p.(Asp1535=)	NC_000016.9:g.2135266C>T	(Likely) benign	1 lab	f9ca105f16
11:107396289 ALKBH8 T>C	11	107396289	107396289	T	C	ALKBH8	c.908A>G	NM_138775.2	NP_620130.2:p.(Gln303Arg)	NC_000011.9:g.107396289T>C	VUS	1 lab	f9cb864206
14:105412943 AHNAK2 C>T	14	105412943	105412943	C	T	AHNAK2	c.8845G>A	NM_138420.3	NP_612429.2:p.(Glu2949Lys)	NC_000014.8:g.105412943C>T	(Likely) benign	1 lab	f9cda4a09b
12:111080092 TCTN1 T>C	12	111080092	111080092	T	C	TCTN1	c.695T>C	NM_001319681.1	NP_001306610.1:p.(Leu232Pro)	NC_000012.11:g.111080092T>C	VUS	1 lab	f9ce363e56
9:72840696 MAMDC2 A>G	9	72840696	72840696	A	G	MAMDC2	c.1942A>G	NM_153267.4	NP_694999.3:p.(Ile648Val)	NC_000009.11:g.72840696A>G	VUS	1 lab	f9cf06436b
20:35128774 DLGAP4 A>T	20	35128774	35128774	A	T	DLGAP4	c.2263A>T	NM_014902.5	NP_055717.2:p.(Ile755Phe)	NC_000020.10:g.35128774A>T	VUS	1 lab	f9cf4ecd01
3:170185071 SLC7A14 G>A	3	170185071	170185071	G	A	SLC7A14	c.2088C>T	NM_020949.2	NP_066000.2:p.(Tyr696=)	NC_000003.11:g.170185071G>A	(Likely) benign	1 lab	f9d01bc248
6:129621996 LAMA2 C>T	6	129621996	129621996	C	T	LAMA2	c.3153C>T	NM_000426.3	NP_000417.2:p.(His1051=)	NC_000006.11:g.129621996C>T	(Likely) benign	1 lab	f9d0d677f0
15:86808030 AGBL1 C>T	15	86808030	86808030	C	T	AGBL1	c.1628C>T	NM_152336.3	NP_689549.3:p.(Thr543Ile)	NC_000015.9:g.86808030C>T	VUS	1 lab	f9d2f13774
11:68206011 LRP5 C>G	11	68206011	68206011	C	G	LRP5	c.2466C>G	NM_001291902.1	NP_001278831.1:p.(Val822=)	NC_000011.9:g.68206011C>G	(Likely) benign	1 lab	f9d3989346
8:100831721 VPS13B A>G	8	100831721	100831721	A	G	VPS13B	c.8778A>G	NM_017890.4	NP_060360.3:p.(Gly2926=)	NC_000008.10:g.100831721A>G	(Likely) benign	1 lab	f9d5d4441c
19:10291061 DNMT1 G>A	19	10291061	10291061	G	A	DNMT1	c.410C>T	NM_001379.3	NP_001370.1:p.(Thr137Met)	NC_000019.9:g.10291061G>A	(Likely) benign	1 lab	f9d6694fc5
1:152275728 FLG C>A	1	152275728	152275728	C	A	FLG	c.11634G>T	NM_002016.1	NP_002007.1:p.(Arg3878Ser)	NC_000001.10:g.152275728C>A	(Likely) benign	1 lab	f9d69de976
11:124766945 ROBO4 C>T	11	124766945	124766945	C	T	ROBO4	c.283G>A	NM_019055.5	NP_061928.4:p.(Ala95Thr)	NC_000011.9:g.124766945C>T	VUS	1 lab	f9d9021e8a
14:51221496 NIN T>A	14	51221496	51221496	T	A	NIN	c.4628A>T	NM_020921.3	NP_065972.3:p.(Lys1543Ile)	NC_000014.8:g.51221496T>A	VUS	1 lab	f9dac30440
9:13121837 MPDZ T>A	9	13121837	13121837	T	A	MPDZ	c.5132A>T	NM_003829.4	NP_003820.2:p.(Asp1711Val)	NC_000009.11:g.13121837T>A	VUS	1 lab	f9db7bc296
5:110079475 SLC25A46 G>A	5	110079475	110079475	G	A	SLC25A46	c.371G>A	NM_138773.3	NP_620128.1:p.(Arg124His)	NC_000005.9:g.110079475G>A	VUS	1 lab	f9dc2ca14c
7:21630788 DNAH11 G>T	7	21630788	21630788	G	T	DNAH11				NC_000007.13:g.21630788G>T	(Likely) benign	1 lab	f9dc3d8b89
15:85407722 ALPK3 G>C	15	85407722	85407722	G	C	ALPK3	c.5155G>C	NM_020778.4	NP_065829.3:p.(Ala1719Pro)	NC_000015.9:g.85407722G>C	VUS	1 lab	f9de319a08
16:67876778 THAP11 A>G	16	67876778	67876778	A	G	THAP11	c.321A>G	NM_020457.2	NP_065190.2:p.(Gln107=)	NC_000016.9:g.67876778A>G	(Likely) benign	1 lab	f9e0469d02
7:80292321 CD36 T>TATCA	7	80292321	80292326	T	TATCA	CD36	c.447_450dup	NM_001001548.2	NP_001001548.1:p.(Asn151SerfsTer14)	NC_000007.13:g.80292323_80292326dup	(Likely) pathogenic	1 lab	f9e2bbd9ee
15:31332488 TRPM1 C>T	15	31332488	31332488	C	T	TRPM1	c.2200G>A	NM_001252020.1	NP_001238949.1:p.(Ala734Thr)	NC_000015.9:g.31332488C>T	VUS	1 lab	f9e319c8df
2:172671660 SLC25A12 T>C	2	172671660	172671660	T	C	SLC25A12	c.983A>G	NM_003705.4	NP_003696.2:p.(Tyr328Cys)	NC_000002.11:g.172671660T>C	VUS	1 lab	f9e3413401
10:68040337 CTNNA3 G>C	10	68040337	68040337	G	C	CTNNA3	c.1775C>G	NM_013266.3	NP_037398.2:p.(Ala592Gly)	NC_000010.10:g.68040337G>C	VUS	1 lab	f9e4813ef5
16:19088636 COQ7 G>T	16	19088636	19088636	G	T	COQ7	c.516G>T	NM_016138.4	NP_057222.2:p.(Lys172Asn)	NC_000016.9:g.19088636G>T	VUS	1 lab	f9e5558828
19:39212227 ACTN4 G>A	19	39212227	39212227	G	A	ACTN4	c.1341G>A	NM_004924.5	NP_004915.2:p.(Ser447=)	NC_000019.9:g.39212227G>A	(Likely) benign	1 lab	f9e56ac49b
4:6302518 WFS1 C>A	4	6302518	6302518	C	A	WFS1	c.996C>A	NM_006005.3	NP_005996.2:p.(Ile332=)	NC_000004.11:g.6302518C>A	(Likely) benign	1 lab	f9e5863b1a
9:35685747 TPM2 G>A	9	35685747	35685747	G	A	TPM2	c.271C>T	NM_001301227.1	NP_001288156.1:p.(Arg91Cys)	NC_000009.11:g.35685747G>A	VUS	1 lab	f9e5d5d855
9:123216129 CDK5RAP2 G>A	9	123216129	123216129	G	A	CDK5RAP2	c.2398C>T	NM_018249.5	NP_060719.4:p.(Arg800Trp)	NC_000009.11:g.123216129G>A	(Likely) benign	1 lab	f9e601740a
1:225512505 DNAH14 C>T	1	225512505	225512505	C	T	DNAH14	c.9694C>T	NM_001367479.1	NP_001354408.1:p.(Leu3232Phe)	NC_000001.10:g.225512505C>T	VUS	1 lab	f9e6364a15
X:54955421 TRO C>T	X	54955421	54955421	C	T	TRO	c.2264C>T	NM_001039705.2	NP_001034794.1:p.(Pro755Leu)	NC_000023.10:g.54955421C>T	(Likely) benign	1 lab	f9e6d59205
16:51174740 SALL1 G>A	16	51174740	51174740	G	A	SALL1	c.1393C>T	NM_002968.2	NP_002959.2:p.(Gln465Ter)	NC_000016.9:g.51174740G>A	(Likely) pathogenic	1 lab	f9e91ed947
12:112037289 ATXN2 A>G	12	112037289	112037289	A	G	ATXN2	c.30T>C	NM_002973.3	NP_002964.3:p.(Ser10=)	NC_000012.11:g.112037289A>G	(Likely) benign	1 lab	f9ebd30365
1:21902407 ALPL C>A	1	21902407	21902407	C	A	ALPL	c.1179C>A	NM_000478.5	NP_000469.3:p.(Asn393Lys)	NC_000001.10:g.21902407C>A	VUS	1 lab	f9ed690665
1:158631122 SPTA1 G>A	1	158631122	158631122	G	A	SPTA1	c.2542C>T	NM_003126.3	NP_003117.2:p.(Arg848Cys)	NC_000001.10:g.158631122G>A	VUS	1 lab	f9ee4a0f6d
X:47498587 ELK1 C>T	X	47498587	47498587	C	T	ELK1	c.361G>A	NM_001114123.2	NP_001107595.1:p.(Ala121Thr)	NC_000023.10:g.47498587C>T	(Likely) benign	1 lab	f9efe78668
14:76948380 ESRRB G>A	14	76948380	76948380	G	A	ESRRB	c.536G>A	NM_004452.3	NP_004443.3:p.(Arg179His)	NC_000014.8:g.76948380G>A	VUS	1 lab	f9f01e20b8
21:46896288 COL18A1 C>T	21	46896288	46896288	C	T	COL18A1	c.822C>T	NM_130445.2	NP_569712.2:p.(Leu274=)	NC_000021.8:g.46896288C>T	(Likely) benign	1 lab	f9f04bc823
12:21960328 ABCC9 G>A	12	21960328	21960328	G	A	ABCC9	c.4401C>T	NM_020297.2	NP_064693.2:p.(Ser1467=)	NC_000012.11:g.21960328G>A	(Likely) benign	1 lab	f9f04e809f
10:95353604 RBP4 G>T	10	95353604	95353604	G	T	RBP4	c.544C>A	NM_006744.3	NP_006735.2:p.(Gln182Lys)	NC_000010.10:g.95353604G>T	VUS	1 lab	f9f2141d66
X:151900113 MAGEA12 C>T	X	151900113	151900113	C	T	MAGEA12	c.688G>A	NM_001166386.3	NP_001159858.1:p.(Ala230Thr)	NC_000023.10:g.151900113C>T	(Likely) benign	1 lab	f9f2656e83
3:191098682 CCDC50 A>G	3	191098682	191098682	A	G	CCDC50	c.1203A>G	NM_178335.2	NP_848018.1:p.(Lys401=)	NC_000003.11:g.191098682A>G	(Likely) benign	1 lab	f9f2b533fb
16:21281102 CRYM T>C	16	21281102	21281102	T	C	CRYM	c.489+9A>G	NM_001888.4	NP_001879.1:p.?	NC_000016.9:g.21281102T>C	(Likely) benign	1 lab	f9f421989d
X:148571894 IDS G>T	X	148571894	148571894	G	T	IDS	c.957C>A	NM_000202.7	NP_000193.1:p.(Asp319Glu)	NC_000023.10:g.148571894G>T	VUS	1 lab	f9f43a09a5
1:152282031 FLG G>A	1	152282031	152282031	G	A	FLG	c.5331C>T	NM_002016.1	NP_002007.1:p.(Ser1777=)	NC_000001.10:g.152282031G>A	(Likely) benign	1 lab	f9f50a47ec
17:76993601 CANT1 G>A	17	76993601	76993601	G	A	CANT1	c.104C>T	NM_138793.3	NP_620148.1:p.(Ala35Val)	NC_000017.10:g.76993601G>A	(Likely) benign	1 lab	f9f5b8cd3f
16:2134320 TSC2 AGG>A	16	2134320	2134323	AGG	A	TSC2	c.4099_4100del	NM_000548.5	NP_000539.2:p.(Gly1367TrpfsTer46)	NC_000016.9:g.2134322_2134323del	(Likely) pathogenic	1 lab	f9f70b3bef
17:29652894 NF1 T>A	17	29652894	29652894	T	A	NF1	c.4829T>A	NM_000267.3	NP_000258.1:p.(Leu1610Ter)	NC_000017.10:g.29652894T>A	(Likely) pathogenic	1 lab	f9f7a8d481
1:169828197 SCYL3 C>T	1	169828197	169828197	C	T	SCYL3	c.1297G>A	NM_181093.3	NP_851607.2:p.(Asp433Asn)	NC_000001.10:g.169828197C>T	VUS	1 lab	f9fa1b76d1
1:247586611 NLRP3 G>A	1	247586611	247586611	G	A	NLRP3	c.357G>A	NM_001243133.1	NP_001230062.1:p.(Leu119=)	NC_000001.10:g.247586611G>A	(Likely) benign	1 lab	f9fa33bc97
1:91403535 ZNF644 T>C	1	91403535	91403535	T	C	ZNF644	c.3195A>G	NM_201269.2	NP_958357.1:p.(Gly1065=)	NC_000001.10:g.91403535T>C	(Likely) benign	1 lab	f9fbc7a9a0
5:138356903 SIL1 C>T	5	138356903	138356903	C	T	SIL1	c.724G>A	NM_001037633.1	NP_001032722.1:p.(Val242Met)	NC_000005.9:g.138356903C>T	VUS	1 lab	f9fbca566f
18:19088528 GREB1L G>A	18	19088528	19088528	G	A	GREB1L	c.4711G>A	NM_001142966.2	NP_001136438.1:p.(Gly1571Ser)	NC_000018.9:g.19088528G>A	(Likely) benign	1 lab	f9fbd5cc8c
15:89861951 POLG T>G	15	89861951	89861951	T	G	POLG	c.3303A>C	NM_002693.2	NP_002684.1:p.(Val1101=)	NC_000015.9:g.89861951T>G	(Likely) benign	1 lab	f9fcf01e64
10:85958818 CDHR1 G>A	10	85958818	85958818	G	A	CDHR1	c.379G>A	NM_033100.4	NP_149091.1:p.(Asp127Asn)	NC_000010.10:g.85958818G>A	VUS	1 lab	fa02b08e9b
X:2994688 ARSF G>C	X	2994688	2994688	G	C	ARSF	c.261G>C	NM_001201539.1	NP_001188468.1:p.(Thr87=)	NC_000023.10:g.2994688G>C	(Likely) benign	1 lab	fa031e7ab5
16:27709707 KATNIP T>G	16	27709707	27709707	T	G	KATNIP	c.999T>G	NM_015202.3	NP_056017.3:p.(Ala333=)	NC_000016.9:g.27709707T>G	(Likely) benign	1 lab	fa03b9185e
X:68382674 PJA1 T>C	X	68382674	68382674	T	C	PJA1	c.408A>G	NM_145119.3	NP_660095.1:p.(Arg136=)	NC_000023.10:g.68382674T>C	(Likely) benign	1 lab	fa05b50b53
16:2134198 TSC2 CAG>C	16	2134198	2134200	CAG	C	TSC2	c.4006-30_4006-29del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134199_2134200del	(Likely) benign	1 lab	fa081fba78
4:186423436 PDLIM3 G>A	4	186423436	186423436	G	A	PDLIM3	c.*12C>T	NM_014476.5	NP_055291.2:p.?	NC_000004.11:g.186423436G>A	(Likely) benign	1 lab	fa0a58d57d
2:37586926 QPCT C>T	2	37586926	37586926	C	T	QPCT	c.471C>T	NM_012413.4	NP_036545.1:p.(Ala157=)	NC_000002.11:g.37586926C>T	(Likely) benign	1 lab	fa0bb12fb0
12:21030779 SLCO1B3 A>C	12	21030779	21030779	A	C	SLCO1B3	c.1044A>C	NM_019844.3	NP_062818.1:p.(Gln348His)	NC_000012.11:g.21030779A>C	(Likely) benign	1 lab	fa0c1d2d97
X:128881617 XPNPEP2 C>T	X	128881617	128881617	C	T	XPNPEP2	c.525C>T	NM_003399.5	NP_003390.4:p.(Gly175=)	NC_000023.10:g.128881617C>T	(Likely) benign	1 lab	fa0e755d4c
7:107545916 DLD G>A	7	107545916	107545916	G	A	DLD	c.549G>A	NM_000108.4	NP_000099.2:p.(Thr183=)	NC_000007.13:g.107545916G>A	(Likely) benign	1 lab	fa0ff58f5e
20:31024736 ASXL1 C>T	20	31024736	31024736	C	T	ASXL1	c.4221C>T	NM_015338.5	NP_056153.2:p.(Asp1407=)	NC_000020.10:g.31024736C>T	(Likely) benign	1 lab	fa103f90e3
3:164783203 SI C>A	3	164783203	164783203	C	A	SI	c.653G>T	NM_001041.3	NP_001032.2:p.(Gly218Val)	NC_000003.11:g.164783203C>A	VUS	1 lab	fa118523e1
16:1498392 CLCN7 G>A	16	1498392	1498392	G	A	CLCN7	c.1977C>T	NM_001287.5	NP_001278.1:p.(Asn659=)	NC_000016.9:g.1498392G>A	(Likely) benign	1 lab	fa11fc72c4
2:202619333 ALS2 G>A	2	202619333	202619333	G	A	ALS2	c.1533C>T	NM_020919.3	NP_065970.2:p.(Pro511=)	NC_000002.11:g.202619333G>A	(Likely) benign	1 lab	fa14ed896b
12:133226373 POLE CA>C	12	133226373	133226374	CA	C	POLE	c.3684del	NM_006231.4	NP_006222.2:p.(Val1229Ter)	NC_000012.11:g.133226374del	VUS	1 lab	fa15d5b388
11:95555145 CEP57 G>A	11	95555145	95555145	G	A	CEP57				NC_000011.9:g.95555145G>A	(Likely) benign	1 lab	fa1b3b0908
17:40766624 TUBG1 G>A	17	40766624	40766624	G	A	TUBG1	c.1107G>A	NM_001070.4	NP_001061.2:p.(Ser369=)	NC_000017.10:g.40766624G>A	VUS	1 lab	fa1b7cf522
1:41303975 KCNQ4 G>A	1	41303975	41303975	G	A	KCNQ4	c.1876-8G>A	NM_004700.3	NP_004691.2:p.?	NC_000001.10:g.41303975G>A	(Likely) benign	1 lab	fa2034fe89
8:28876391 HMBOX1 G>A	8	28876391	28876391	G	A	HMBOX1	c.812G>A	NM_001324393.1	NP_001311322.1:p.(Arg271Gln)	NC_000008.10:g.28876391G>A	VUS	1 lab	fa20bce62d
11:6588361 DNHD1 C>T	11	6588361	6588361	C	T	DNHD1	c.11622C>T	NM_144666.2	NP_653267.2:p.(Phe3874=)	NC_000011.9:g.6588361C>T	(Likely) benign	1 lab	fa20bef822
X:70518595 NONO G>A	X	70518595	70518595	G	A	NONO	c.1210G>A	NM_001145408.1	NP_001138880.1:p.(Ala404Thr)	NC_000023.10:g.70518595G>A	(Likely) benign	1 lab	fa2108b8a8
2:48027683 MSH6 A>T	2	48027683	48027683	A	T	MSH6	c.2561A>T	NM_000179.2	NP_000170.1:p.(Lys854Met)	NC_000002.11:g.48027683A>T	VUS	1 lab	fa229b9fdf
15:42145106 SPTBN5 G>A	15	42145106	42145106	G	A	SPTBN5	c.10263C>T	NM_016642.4	NP_057726.4:p.(Gly3421=)	NC_000015.9:g.42145106G>A	(Likely) benign	1 lab	fa22f612ce
1:215847775 USH2A C>T	1	215847775	215847775	C	T	USH2A	c.13478G>A	NM_206933.2	NP_996816.2:p.(Arg4493His)	NC_000001.10:g.215847775C>T	VUS	1 lab	fa25b74024
4:88536952 DSPP C>T	4	88536952	88536952	C	T	DSPP	c.3138C>T	NM_014208.3	NP_055023.2:p.(Ser1046=)	NC_000004.11:g.88536952C>T	(Likely) benign	1 lab	fa2607be6c
1:116269614 CASQ2 T>A	1	116269614	116269614	T	A	CASQ2	c.736A>T	NM_001232.3	NP_001223.2:p.(Arg246Ter)	NC_000001.10:g.116269614T>A	(Likely) pathogenic	1 lab	fa268754b1
22:38119240 TRIOBP G>A	22	38119240	38119240	G	A	TRIOBP	c.677G>A	NM_001039141.2	NP_001034230.1:p.(Arg226Gln)	NC_000022.10:g.38119240G>A	VUS	1 lab	fa28770470
12:57626547 SHMT2 G>T	12	57626547	57626547	G	T	SHMT2	c.715G>T	NM_001166357.1	NP_001159829.1:p.(Ala239Ser)	NC_000012.11:g.57626547G>T	VUS	1 lab	fa2b7b9f31
17:29562934 NF1 A>T	17	29562934	29562934	A	T	NF1	c.3871-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29562934A>T	(Likely) pathogenic	1 lab	fa2baa6249
2:202496828 TMEM237 T>C	2	202496828	202496828	T	C	TMEM237	c.475A>G	NM_152388.3	NP_689601.2:p.(Thr159Ala)	NC_000002.11:g.202496828T>C	VUS	1 lab	fa2c4f8601
16:2108755 TSC2 A>G	16	2108755	2108755	A	G	TSC2	c.856A>G	NM_000548.3	NP_000539.2:p.(Met286Val)	NC_000016.9:g.2108755A>G	(Likely) benign	1 lab	fa2ca5a786
2:15359052 NBAS G>A	2	15359052	15359052	G	A	NBAS	c.6277C>T	NM_015909.3	NP_056993.2:p.(Arg2093Trp)	NC_000002.11:g.15359052G>A	VUS	1 lab	fa2f748c9e
X:26212021 MAGEB6 G>A	X	26212021	26212021	G	A	MAGEB6	c.58G>A	NM_173523.2	NP_775794.2:p.(Gly20Ser)	NC_000023.10:g.26212021G>A	(Likely) benign	1 lab	fa30b7dd37
5:73981124 HEXB G>A	5	73981124	73981124	G	A	HEXB	c.39G>A	NM_000521.3	NP_000512.1:p.(Met13Ile)	NC_000005.9:g.73981124G>A	(Likely) benign	1 lab	fa31568692
X:46466481 SLC9A7 G>A	X	46466481	46466481	G	A	SLC9A7	c.2084C>T	NM_032591.2	NP_115980.1:p.(Ser695Leu)	NC_000023.10:g.46466481G>A	VUS	1 lab	fa31a4581a
9:79253138 PRUNE2 C>T	9	79253138	79253138	C	T	PRUNE2	c.8795G>A	NM_015225.3	NP_056040.2:p.(Arg2932Gln)	NC_000009.11:g.79253138C>T	VUS	1 lab	fa33d52eb8
16:88800398 PIEZO1 G>C	16	88800398	88800398	G	C	PIEZO1	c.2245C>G	NM_001142864.4	NP_001136336.2:p.(Gln749Glu)	NC_000016.9:g.88800398G>C	(Likely) benign	1 lab	fa34483756
22:25024108 GGT1 G>A	22	25024108	25024108	G	A	GGT1	c.1397G>A	NM_001288833.2	NP_001275762.1:p.(Arg466Gln)	NC_000022.10:g.25024108G>A	(Likely) benign	1 lab	fa35321e88
8:145739846 RECQL4 G>A	8	145739846	145739846	G	A	RECQL4	c.1684C>T	NM_004260.3	NP_004251.3:p.(Arg562Trp)	NC_000008.10:g.145739846G>A	VUS	1 lab	fa36cb6fb6
14:64516477 SYNE2 T>C	14	64516477	64516477	T	C	SYNE2	c.7526T>C	NM_182914.2	NP_878918.2:p.(Ile2509Thr)	NC_000014.8:g.64516477T>C	(Likely) benign	1 lab	fa372872a6
17:78311451 RNF213 C>T	17	78311451	78311451	C	T	RNF213	c.4593C>T	NM_001256071.2	NP_001243000.2:p.(Arg1531=)	NC_000017.10:g.78311451C>T	(Likely) benign	1 lab	fa3a213d06
3:10191479 VHL C>CT	3	10191479	10191480	C	CT	VHL	c.473dup	NM_000551.3	NP_000542.1:p.(Lys159GlufsTer15)	NC_000003.11:g.10191480dup	(Likely) pathogenic	1 lab	fa3a5d75e5
7:100636846 MUC12 C>A	7	100636846	100636846	C	A	MUC12	c.3002C>A	NM_001164462.1	NP_001157934.1:p.(Thr1001Asn)	NC_000007.13:g.100636846C>A	(Likely) benign	1 lab	fa3a6c69f7
X:29973289 IL1RAPL1 C>A	X	29973289	29973289	C	A	IL1RAPL1	c.1443C>A	NM_014271.3	NP_055086.1:p.(Tyr481Ter)	NC_000023.10:g.29973289C>A	VUS	1 lab	fa3cd7a635
2:44104801 ABCG8 C>A	2	44104801	44104801	C	A	ABCG8	c.1858C>A	NM_022437.2	NP_071882.1:p.(Leu620Ile)	NC_000002.11:g.44104801C>A	(Likely) benign	1 lab	fa3d645322
5:35871238 IL7R C>T	5	35871238	35871238	C	T	IL7R				NC_000005.9:g.35871238C>T	VUS	1 lab	fa424a9f96
10:104678511 CNNM2 G>C	10	104678511	104678511	G	C	CNNM2	c.274G>C	NM_017649.4	NP_060119.3:p.(Ala92Pro)	NC_000010.10:g.104678511G>C	VUS	1 lab	fa426b0eb3
3:142280106 ATR C>G	3	142280106	142280106	C	G	ATR	c.1328G>C	NM_001184.3	NP_001175.2:p.(Arg443Thr)	NC_000003.11:g.142280106C>G	(Likely) benign	1 lab	fa45046890
12:50745792 FAM186A G>A	12	50745792	50745792	G	A	FAM186A	c.4823C>T	NM_001145475.2	NP_001138947.1:p.(Ala1608Val)	NC_000012.11:g.50745792G>A	VUS	1 lab	fa4628bd14
3:10370630 ATP2B2 C>T	3	10370630	10370630	C	T	ATP2B2	c.3600G>A	NM_001001331.3	NP_001001331.1:p.(Ser1200=)	NC_000003.11:g.10370630C>T	(Likely) benign	1 lab	fa462d97be
6:146350917 GRM1 G>A	6	146350917	146350917	G	A	GRM1	c.264G>A	NM_001278065.1	NP_001264994.1:p.(Lys88=)	NC_000006.11:g.146350917G>A	(Likely) benign	1 lab	fa477f4dcf
20:62297367 RTEL1 G>A	20	62297367	62297367	G	A	RTEL1	c.549G>A	NM_001283009.1	NP_001269938.1:p.(Leu183=)	NC_000020.10:g.62297367G>A	(Likely) benign	1 lab	fa47ecc80f
1:171607823 MYOC A>G	1	171607823	171607823	A	G	MYOC	c.644T>C	NM_000261.1	NP_000252.1:p.(Leu215Pro)	NC_000001.10:g.171607823A>G	(Likely) benign	1 lab	fa483d8bc0
19:45856356 ERCC2 C>A	19	45856356	45856356	C	A	ERCC2	c.1816G>T	NM_000400.3	NP_000391.1:p.(Glu606Ter)	NC_000019.9:g.45856356C>A	(Likely) pathogenic	1 lab	fa4a053efb
17:70117868 SOX9 C>A	17	70117868	70117868	C	A	SOX9	c.336C>A	NM_000346.3	NP_000337.1:p.(Phe112Leu)	NC_000017.10:g.70117868C>A	(Likely) pathogenic	1 lab	fa4b8c1fa6
12:102158621 GNPTAB C>A	12	102158621	102158621	C	A	GNPTAB	c.2074G>T	NM_024312.4	NP_077288.2:p.(Glu692Ter)	NC_000012.11:g.102158621C>A	(Likely) pathogenic	1 lab	fa4c8fa082
18:7024415 LAMA1 C>G	18	7024415	7024415	C	G	LAMA1	c.2453G>C	NM_005559.3	NP_005550.2:p.(Trp818Ser)	NC_000018.9:g.7024415C>G	(Likely) benign	1 lab	fa4e7d75ec
2:179393694 TTN T>A	2	179393694	179393694	T	A	TTN	c.106784A>T	NM_001267550.1	NP_001254479.1:p.(Lys35595Ile)	NC_000002.11:g.179393694T>A	VUS	1 lab	fa4fc6db61
X:6069317 NLGN4X T>C	X	6069317	6069317	T	C	NLGN4X	c.191A>G	NM_001282145.1	NP_001269074.1:p.(Asn64Ser)	NC_000023.10:g.6069317T>C	(Likely) benign	1 lab	fa5058ef0c
1:186143770 HMCN1 C>T	1	186143770	186143770	C	T	HMCN1	c.15939C>T	NM_031935.2	NP_114141.2:p.(Cys5313=)	NC_000001.10:g.186143770C>T	(Likely) benign	1 lab	fa56aff368
1:156502888 IQGAP3 G>A	1	156502888	156502888	G	A	IQGAP3	c.3987C>T	NM_178229.5	NP_839943.3:p.(Ile1329=)	NC_000001.10:g.156502888G>A	(Likely) benign	1 lab	fa577d2864
1:57411691 C8B T>C	1	57411691	57411691	T	C	C8B	c.752A>G	NM_001278543.1	NP_001265472.1:p.(His251Arg)	NC_000001.10:g.57411691T>C	(Likely) benign	1 lab	fa5810bd09
3:3188249 TRNT1 T>C	3	3188249	3188249	T	C	TRNT1	c.744T>C	NM_182916.3	NP_886552.3:p.(Gly248=)	NC_000003.11:g.3188249T>C	(Likely) benign	1 lab	fa586b8b39
16:5122041 ALG1 C>A	16	5122041	5122041	C	A	ALG1	c.191C>A	NM_019109.4	NP_061982.3:p.(Thr64Asn)	NC_000016.9:g.5122041C>A	(Likely) benign	1 lab	fa586be7d5
8:144941077 EPPK1 G>C	8	144941077	144941077	G	C	EPPK1				NC_000008.10:g.144941077G>C	VUS	1 lab	fa59db8a69
11:76834880 CAPN5 G>A	11	76834880	76834880	G	A	CAPN5	c.1887G>A	NM_004055.4	NP_004046.2:p.(Val629=)	NC_000011.9:g.76834880G>A	(Likely) benign	1 lab	fa5ba893a8
X:34962125 FAM47B C>T	X	34962125	34962125	C	T	FAM47B	c.1177C>T	NM_152631.2	NP_689844.2:p.(Arg393Trp)	NC_000023.10:g.34962125C>T	VUS	1 lab	fa5d351f68
X:70597614 TAF1 G>C	X	70597614	70597614	G	C	TAF1	c.936G>C	NM_001286074.1	NP_001273003.1:p.(Leu312Phe)	NC_000023.10:g.70597614G>C	(Likely) benign	1 lab	fa5ddbe93a
15:42174548 SPTBN5 G>T	15	42174548	42174548	G	T	SPTBN5	c.2166C>A	NM_016642.4	NP_057726.4:p.(Ala722=)	NC_000015.9:g.42174548G>T	(Likely) benign	1 lab	fa5e595a4e
15:73016923 BBS4 A>G	15	73016923	73016923	A	G	BBS4	c.514A>G	NM_033028.4	NP_149017.2:p.(Ile172Val)	NC_000015.9:g.73016923A>G	VUS	1 lab	fa5f9f5cfe
4:88537243 DSPP C>T	4	88537243	88537243	C	T	DSPP	c.3429C>T	NM_014208.3	NP_055023.2:p.(Asp1143=)	NC_000004.11:g.88537243C>T	(Likely) benign	1 lab	fa60a75ccb
18:47421325 MYO5B C>T	18	47421325	47421325	C	T	MYO5B	c.3031G>A	NM_001080467.2	NP_001073936.1:p.(Asp1011Asn)	NC_000018.9:g.47421325C>T	(Likely) benign	1 lab	fa62d73c2c
14:105858062 PACS2 G>C	14	105858062	105858062	G	C	PACS2	c.2214G>C	NM_001100913.2	NP_001094383.2:p.(Pro738=)	NC_000014.8:g.105858062G>C	(Likely) benign	1 lab	fa62f29c01
15:38591749 SPRED1 G>A	15	38591749	38591749	G	A	SPRED1	c.207+1G>A	NM_152594.2	NP_689807.1:p.?	NC_000015.9:g.38591749G>A	(Likely) pathogenic	1 lab	fa6319d541
7:128485264 FLNC G>A	7	128485264	128485264	G	A	FLNC	c.3745G>A	NM_001458.4	NP_001449.3:p.(Asp1249Asn)	NC_000007.13:g.128485264G>A	VUS	1 lab	fa635da17c
3:38592643 SCN5A C>T	3	38592643	38592643	C	T	SCN5A	c.5220G>A	NM_001099404.1	NP_001092874.1:p.(Gly1740=)	NC_000003.11:g.38592643C>T	(Likely) benign	1 lab	fa636bd1cb
1:46654437 POMGNT1 C>T	1	46654437	46654437	C	T	POMGNT1	c.2201G>A	NM_001243766.1	NP_001230695.1:p.(Arg734Lys)	NC_000001.10:g.46654437C>T	(Likely) benign	1 lab	fa644c2d2c
8:145623989 CPSF1 T>C	8	145623989	145623989	T	C	CPSF1	c.1678A>G	NM_013291.3	NP_037423.2:p.(Ser560Gly)	NC_000008.10:g.145623989T>C	(Likely) benign	1 lab	fa6491a16a
1:114372309 PTPN22 C>T	1	114372309	114372309	C	T	PTPN22	c.2155G>A	NM_015967.6	NP_057051.3:p.(Glu719Lys)	NC_000001.10:g.114372309C>T	(Likely) benign	1 lab	fa7110415f
19:42863318 MEGF8 G>A	19	42863318	42863318	G	A	MEGF8	c.5412G>A	NM_001271938.2	NP_001258867.1:p.(Ser1804=)	NC_000019.9:g.42863318G>A	(Likely) benign	1 lab	fa69f4eca7
12:6457044 SCNN1A G>GC	12	6457044	6457051	G	GC	SCNN1A	c.2181dup	NM_001159576.1	NP_001153048.1:p.(Pro728AlafsTer62)	NC_000012.11:g.6457051dup	VUS	1 lab	fa6a0aea1a
3:69168996 LMOD3 GTTCGT>G	3	69168996	69169004	GTTCGT	G	LMOD3	c.505_509del	NM_198271.5	NP_938012.2:p.(Thr169GlnfsTer12)	NC_000003.11:g.69169000_69169004del	VUS	1 lab	fa6cd51a5d
3:184049833 EIF4G1 A>G	3	184049833	184049833	A	G	EIF4G1	c.4580A>G	NM_182917.4	NP_886553.3:p.(Tyr1527Cys)	NC_000003.11:g.184049833A>G	VUS	1 lab	fa6d873049
9:140918119 CACNA1B C>A	9	140918119	140918119	C	A	CACNA1B	c.2924C>A	NM_000718.3	NP_000709.1:p.(Pro975Gln)	NC_000009.11:g.140918119C>A	VUS	1 lab	fa6d9dea78
12:40668764 LRRK2 G>A	12	40668764	40668764	G	A	LRRK2	c.1910G>A	NM_198578.3	NP_940980.3:p.(Arg637Gln)	NC_000012.11:g.40668764G>A	VUS	1 lab	fa6ef467e6
17:29586068 NF1 A>G	17	29586068	29586068	A	G	NF1	c.4288A>G	NM_000267.3	NP_000258.1:p.(Asn1430Asp)	NC_000017.10:g.29586068A>G	(Likely) pathogenic	1 lab	fa6fac13af
5:13824359 DNAH5 C>A	5	13824359	13824359	C	A	DNAH5	c.6528G>T	NM_001369.2	NP_001360.1:p.(Thr2176=)	NC_000005.9:g.13824359C>A	(Likely) benign	1 lab	fa714892ca
8:26722008 ADRA1A C>G	8	26722008	26722008	C	G	ADRA1A	c.479G>C	NM_033302.3	NP_150645.2:p.(Gly160Ala)	NC_000008.10:g.26722008C>G	VUS	1 lab	fa73477f97
1:94643229 ARHGAP29 T>G	1	94643229	94643229	T	G	ARHGAP29	c.2844A>C	NM_004815.4	NP_004806.3:p.(Thr948=)	NC_000001.10:g.94643229T>G	(Likely) benign	1 lab	fa7542d3bb
16:77375661 ADAMTS18 G>C	16	77375661	77375661	G	C	ADAMTS18	c.1134C>G	NM_001326358.1	NP_001313287.1:p.(Gly378=)	NC_000016.9:g.77375661G>C	(Likely) benign	1 lab	fa767403b1
1:36564371 COL8A2 C>T	1	36564371	36564371	C	T	COL8A2	c.911G>A	NM_005202.3	NP_005193.1:p.(Arg304Gln)	NC_000001.10:g.36564371C>T	VUS	1 lab	fa79fdb60e
X:30322825 NR0B1 T>A	X	30322825	30322825	T	A	NR0B1	c.1284A>T	NM_000475.4	NP_000466.2:p.(Glu428Asp)	NC_000023.10:g.30322825T>A	(Likely) benign	1 lab	fa7b4df7db
3:121514458 IQCB1 T>TA	3	121514458	121514472	T	TA	IQCB1	c.877-46dup	NM_001023570.3	NP_001018864.2:p.?	NC_000003.11:g.121514472dup	(Likely) benign	1 lab	fa7c527059
6:74183172 MTO1 C>T	6	74183172	74183172	C	T	MTO1	c.620C>T	NM_001123226.1	NP_001116698.1:p.(Thr207Met)	NC_000006.11:g.74183172C>T	(Likely) benign	1 lab	fa7dd179c4
17:1629316 WDR81 G>A	17	1629316	1629316	G	A	WDR81	c.1063G>A	NM_001163809.1	NP_001157281.1:p.(Gly355Ser)	NC_000017.10:g.1629316G>A	VUS	1 lab	fa7e3b4c49
4:88534326 DSPP G>A	4	88534326	88534326	G	A	DSPP	c.988G>A	NM_014208.3	NP_055023.2:p.(Ala330Thr)	NC_000004.11:g.88534326G>A	(Likely) benign	1 lab	fa7fcefba6
17:27185427 ERAL1 C>T	17	27185427	27185427	C	T	ERAL1	c.634C>T	NM_005702.4	NP_005693.1:p.(Arg212Trp)	NC_000017.10:g.27185427C>T	VUS	1 lab	fa8451fd11
13:76104372 COMMD6 C>T	13	76104372	76104372	C	T	COMMD6	c.4G>A	NM_001287392.1	NP_001274321.1:p.(Ala2Thr)	NC_000013.10:g.76104372C>T	VUS	1 lab	fa85df418e
10:75277490 USP54 C>G	10	75277490	75277490	C	G	USP54	c.2403G>C	NM_001350995.1	NP_001337924.1:p.(Pro801=)	NC_000010.10:g.75277490C>G	(Likely) benign	1 lab	fa86a0b3e7
3:129168765 IFT122 C>T	3	129168765	129168765	C	T	IFT122	c.93C>T	NM_052985.3	NP_443711.2:p.(Ala31=)	NC_000003.11:g.129168765C>T	(Likely) benign	1 lab	fa88395d7c
14:23859521 MYH6 C>T	14	23859521	23859521	C	T	MYH6	c.3477G>A	NM_002471.3	NP_002462.2:p.(Thr1159=)	NC_000014.8:g.23859521C>T	(Likely) benign	1 lab	fa8e6588b8
X:48652558 GATA1 C>T	X	48652558	48652558	C	T	GATA1	c.1229C>T	NM_002049.3	NP_002040.1:p.(Pro410Leu)	NC_000023.10:g.48652558C>T	VUS	1 lab	fa9038dc32
5:154311044 GEMIN5 C>T	5	154311044	154311044	C	T	GEMIN5	c.755G>A	NM_015465.4	NP_056280.2:p.(Arg252Gln)	NC_000005.9:g.154311044C>T	VUS	1 lab	fa90f7cf29
X:70793560 OGT C>A	X	70793560	70793560	C	A	OGT	c.3057C>A	NM_181672.3	NP_858058.1:p.(Leu1019=)	NC_000023.10:g.70793560C>A	(Likely) benign	1 lab	fa9911ac99
16:27761251 KATNIP T>C	16	27761251	27761251	T	C	KATNIP	c.2970T>C	NM_015202.3	NP_056017.3:p.(Tyr990=)	NC_000016.9:g.27761251T>C	(Likely) benign	1 lab	fa91c53f34
15:77287919 PSTPIP1 T>C	15	77287919	77287919	T	C	PSTPIP1	c.5T>C	NM_001321135.1	NP_001308064.1:p.(Met2Thr)	NC_000015.9:g.77287919T>C	(Likely) benign	1 lab	fa9236927e
7:138849974 IFT56 C>T	7	138849974	138849974	C	T	IFT56	c.469C>T	NM_001318333.1	NP_001305262.1:p.(Arg157Cys)	NC_000007.13:g.138849974C>T	VUS	1 lab	fa92556488
15:51216210 AP4E1 T>C	15	51216210	51216210	T	C	AP4E1	c.420+9T>C	NM_007347.4	NP_031373.2:p.?	NC_000015.9:g.51216210T>C	(Likely) benign	1 lab	fa9336ea34
1:11856389 MTHFR C>T	1	11856389	11856389	C	T	MTHFR	c.654G>A	NM_005957.4	NP_005948.3:p.(Val218=)	NC_000001.10:g.11856389C>T	(Likely) benign	1 lab	fa939a30df
1:22174278 HSPG2 T>C	1	22174278	22174278	T	C	HSPG2	c.7932A>G	NM_001291860.1	NP_001278789.1:p.(Glu2644=)	NC_000001.10:g.22174278T>C	(Likely) benign	1 lab	fa93b4092f
16:3641280 SLX4 C>T	16	3641280	3641280	C	T	SLX4	c.2359G>A	NM_032444.2	NP_115820.2:p.(Glu787Lys)	NC_000016.9:g.3641280C>T	VUS	1 lab	fa93fbc6ce
9:80863212 CEP78 T>C	9	80863212	80863212	T	C	CEP78	c.898T>C	NM_001330691.2	NP_001317620.1:p.(Ser300Pro)	NC_000009.11:g.80863212T>C	(Likely) benign	1 lab	fa94287383
16:2106219 TSC2 C>T	16	2106219	2106219	C	T	TSC2	c.622C>T	NM_000548.3	NP_000539.2:p.(Arg208Trp)	NC_000016.9:g.2106219C>T	VUS	1 lab	fa9465bb54
8:96060708 NDUFAF6 T>C	8	96060708	96060708	T	C	NDUFAF6	c.462T>C	NM_001330582.1	NP_001317511.1:p.(Phe154=)	NC_000008.10:g.96060708T>C	(Likely) benign	1 lab	fa96bbf52d
15:25601993 UBE3A A>AAGATG	15	25601993	25601998	A	AAGATG	UBE3A	c.1739_1743dup	NM_130838.1	NP_570853.1:p.(Ser582HisfsTer12)	NC_000015.9:g.25601994_25601998dup	(Likely) pathogenic	1 lab	fa971e1d47
19:11364313 DOCK6 AC>A	19	11364313	11364318	AC	A	DOCK6	c.132+1del	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11364318del	(Likely) pathogenic	1 lab	fa97ed689b
13:48575361 SUCLA2 G>A	13	48575361	48575361	G	A	SUCLA2	c.45C>T	NM_003850.2	NP_003841.1:p.(Thr15=)	NC_000013.10:g.48575361G>A	(Likely) benign	1 lab	fa99528053
17:36666924 ARHGAP23 C>T	17	36666924	36666924	C	T	ARHGAP23	c.4192C>T	NM_001199417.2	NP_001186346.1:p.(Arg1398Trp)	NC_000017.10:g.36666924C>T	VUS	1 lab	fa998043c5
18:44126923 LOXHD1 T>C	18	44126923	44126923	T	C	LOXHD1	c.3449A>G	NM_144612.6	NP_653213.6:p.(Gln1150Arg)	NC_000018.9:g.44126923T>C	(Likely) benign	1 lab	fa9c6cfeaf
2:169985220 LRP2 T>A	2	169985220	169985220	T	A	LRP2	c.13921A>T	NM_004525.3	NP_004516.2:p.(Thr4641Ser)	NC_000002.11:g.169985220T>A	(Likely) benign	1 lab	fa9f9673f9
1:46655145 POMGNT1 G>A	1	46655145	46655145	G	A	POMGNT1	c.1880C>T	NM_017739.3	NP_060209.3:p.(Pro627Leu)	NC_000001.10:g.46655145G>A	VUS	1 lab	fa9fe16d0a
X:153582664 FLNA G>A	X	153582664	153582664	G	A	FLNA	c.5417-5C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153582664G>A	(Likely) benign	1 lab	faa0f1ab46
12:6463606 SCNN1A C>A	12	6463606	6463606	C	A	SCNN1A	c.1535G>T	NM_001159576.1	NP_001153048.1:p.(Trp512Leu)	NC_000012.11:g.6463606C>A	VUS	1 lab	faa20c5461
1:197009685 F13B T>C	1	197009685	197009685	T	C	F13B	c.1919A>G	NM_001994.2	NP_001985.2:p.(Gln640Arg)	NC_000001.10:g.197009685T>C	(Likely) benign	1 lab	faa2a8662a
6:44272513 AARS2 C>T	6	44272513	44272513	C	T	AARS2	c.1621G>A	NM_020745.3	NP_065796.1:p.(Glu541Lys)	NC_000006.11:g.44272513C>T	VUS	1 lab	faa35dce0a
14:105416757 AHNAK2 G>A	14	105416757	105416757	G	A	AHNAK2	c.5031C>T	NM_138420.3	NP_612429.2:p.(Ile1677=)	NC_000014.8:g.105416757G>A	(Likely) benign	1 lab	faa5c73863
8:42317486 SLC20A2 G>A	8	42317486	42317486	G	A	SLC20A2	c.541C>T	NM_001257180.2	NP_001244109.1:p.(Arg181Trp)	NC_000008.10:g.42317486G>A	VUS	1 lab	faa6cd1d3e
6:170179333 ERMARD T>C	6	170179333	170179333	T	C	ERMARD	c.1795T>C	NM_018341.2	NP_060811.1:p.(Leu599=)	NC_000006.11:g.170179333T>C	(Likely) benign	1 lab	faa717bbda
17:41234536 BRCA1 T>C	17	41234536	41234536	T	C	BRCA1	c.4242A>G	NM_007294.3	NP_009225.1:p.(Leu1414=)	NC_000017.10:g.41234536T>C	(Likely) benign	1 lab	faa7207f5d
12:64202890 RXYLT1 C>G	12	64202890	64202890	C	G	RXYLT1	c.*18C>G	NM_014254.2	NP_055069.1:p.?	NC_000012.11:g.64202890C>G	(Likely) benign	1 lab	faaa35c600
X:73812618 RLIM T>C	X	73812618	73812618	T	C	RLIM	c.532A>G	NM_183353.2	NP_899196.1:p.(Asn178Asp)	NC_000023.10:g.73812618T>C	(Likely) benign	1 lab	faae4db999
19:42754716 ERF C>T	19	42754716	42754716	C	T	ERF	c.24G>A	NM_006494.3	NP_006485.2:p.(Gly8=)	NC_000019.9:g.42754716C>T	(Likely) benign	1 lab	faaff43ede
5:176719137 NSD1 C>A	5	176719137	176719137	C	A	NSD1	c.6441C>A	NM_022455.4	NP_071900.2:p.(Leu2147=)	NC_000005.9:g.176719137C>A	(Likely) benign	1 lab	fab0ddba1f
17:7578555 TP53 C>CT	17	7578555	7578556	C	CT	TP53	c.376-2dup	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7578556dup	(Likely) pathogenic	1 lab	fab10cfd35
11:125853894 CDON G>T	11	125853894	125853894	G	T	CDON	c.2868C>A	NM_001243597.1	NP_001230526.1:p.(Thr956=)	NC_000011.9:g.125853894G>T	(Likely) benign	1 lab	fab177689a
7:73477941 ELN G>C	7	73477941	73477941	G	C	ELN	c.2105-10G>C	NM_001278939.1	NP_001265868.1:p.?	NC_000007.13:g.73477941G>C	(Likely) benign	1 lab	fab1cff714
8:33247159 POFUT3 G>C	8	33247159	33247159	G	C	POFUT3	c.534C>G	NM_032664.3	NP_116053.3:p.(His178Gln)	NC_000008.10:g.33247159G>C	VUS	1 lab	fab4321501
16:14020438 ERCC4 C>G	16	14020438	14020438	C	G	ERCC4	c.409C>G	NM_005236.2	NP_005227.1:p.(His137Asp)	NC_000016.9:g.14020438C>G	VUS	1 lab	fab8855299
17:8808174 PIK3R5 C>T	17	8808174	8808174	C	T	PIK3R5	c.332G>A	NM_001142633.2	NP_001136105.1:p.(Arg111Gln)	NC_000017.10:g.8808174C>T	(Likely) benign	1 lab	fab8a886d1
X:17819870 RAI2 T>C	X	17819870	17819870	T	C	RAI2	c.261A>G	NM_001172743.1	NP_001166214.1:p.(Pro87=)	NC_000023.10:g.17819870T>C	(Likely) benign	1 lab	fab8f5788d
9:140129157 SLC34A3 G>A	9	140129157	140129157	G	A	SLC34A3	c.1309G>A	NM_001177317.1	NP_001170788.1:p.(Ala437Thr)	NC_000009.11:g.140129157G>A	(Likely) benign	1 lab	fab98e0351
X:102864211 TCEAL3 A>C	X	102864211	102864211	A	C	TCEAL3	c.219A>C	NM_001006933.1	NP_001006934.1:p.(Glu73Asp)	NC_000023.10:g.102864211A>C	(Likely) benign	1 lab	faba48bce1
11:47364404 MYBPC3 C>T	11	47364404	47364404	C	T	MYBPC3	c.1434G>A	NM_000256.3	NP_000247.2:p.(Ser478=)	NC_000011.9:g.47364404C>T	(Likely) benign	1 lab	faba6d3db5
16:56531786 BBS2 T>C	16	56531786	56531786	T	C	BBS2	c.1666A>G	NM_031885.3	NP_114091.3:p.(Ile556Val)	NC_000016.9:g.56531786T>C	VUS	1 lab	faba81ce9b
12:83324301 TMTC2 C>T	12	83324301	83324301	C	T	TMTC2	c.1575C>T	NM_152588.3	NP_689801.1:p.(Asn525=)	NC_000012.11:g.83324301C>T	(Likely) benign	1 lab	fabb662e68
9:131038595 SWI5 G>C	9	131038595	131038595	G	C	SWI5	c.171G>C	NM_001040011.1	NP_001035100.1:p.(Leu57=)	NC_000009.11:g.131038595G>C	(Likely) benign	1 lab	fabb8bd30a
18:44603743 KATNAL2 G>A	18	44603743	44603743	G	A	KATNAL2	c.906G>A	NM_031303.3	NP_112593.2:p.(Leu302=)	NC_000018.9:g.44603743G>A	(Likely) benign	1 lab	fabe68a4f0
2:216197199 ATIC C>T	2	216197199	216197199	C	T	ATIC	c.783C>T	NM_004044.6	NP_004035.2:p.(Ala261=)	NC_000002.11:g.216197199C>T	(Likely) benign	1 lab	fabeaedf14
15:28326930 OCA2 G>A	15	28326930	28326930	G	A	OCA2	c.91C>T	NM_000275.2	NP_000266.2:p.(Leu31Phe)	NC_000015.9:g.28326930G>A	(Likely) benign	1 lab	fac0a1ee19
11:28352230 METTL15 T>C	11	28352230	28352230	T	C	METTL15	c.1066T>C	NM_001113528.2	NP_001107000.1:p.(Leu356=)	NC_000011.9:g.28352230T>C	(Likely) benign	1 lab	fac108abb3
1:19550017 EMC1 G>A	1	19550017	19550017	G	A	EMC1	c.2249C>T	NM_015047.2	NP_055862.1:p.(Ala750Val)	NC_000001.10:g.19550017G>A	(Likely) benign	1 lab	fac1122db5
19:5131521 KDM4B C>T	19	5131521	5131521	C	T	KDM4B	c.1750C>T	NM_015015.3	NP_055830.1:p.(Arg584Cys)	NC_000019.9:g.5131521C>T	VUS	1 lab	fac4e46726
13:111114554 COL4A2 G>A	13	111114554	111114554	G	A	COL4A2	c.1669+21G>A	NM_001846.3	NP_001837.2:p.?	NC_000013.10:g.111114554G>A	(Likely) benign	1 lab	fac7fb61e9
16:51173795 SALL1 C>A	16	51173795	51173795	C	A	SALL1	c.2338G>T	NM_002968.2	NP_002959.2:p.(Val780Phe)	NC_000016.9:g.51173795C>A	VUS	1 lab	faca1a2e6b
6:170155477 ERMARD A>G	6	170155477	170155477	A	G	ERMARD	c.274A>G	NM_018341.2	NP_060811.1:p.(Ile92Val)	NC_000006.11:g.170155477A>G	(Likely) benign	1 lab	face58466f
5:74712820 CERT1 C>T	5	74712820	74712820	C	T	CERT1	c.1102G>A	NM_001130105.1	NP_001123577.1:p.(Asp368Asn)	NC_000005.9:g.74712820C>T	VUS	1 lab	face7d8909
12:7244252 MISSING C>T	12	7244252	7244252	C	T	MISSING				NC_000012.11:g.7244252C>T	(Likely) benign	1 lab	fad1568f43
3:9800906 OGG1 C>T	3	9800906	9800906	C	T	OGG1	c.984C>T	NM_016828.2	NP_058437.1:p.(Leu328=)	NC_000003.11:g.9800906C>T	(Likely) benign	1 lab	fad1c6ea53
19:13007135 GCDH A>G	19	13007135	13007135	A	G	GCDH	c.752A>G	NM_000159.3	NP_000150.1:p.(Gln251Arg)	NC_000019.9:g.13007135A>G	(Likely) benign	1 lab	fad1e378c4
16:2138130 TSC2 T>TGCAC	16	2138130	2138137	T	TGCAC	TSC2	c.5154_5157dup	NM_000548.3	NP_000539.2:p.(Asn1720ArgfsTer10)	NC_000016.9:g.2138134_2138137dup	(Likely) pathogenic	1 lab	fad4a5a983
7:42017241 GLI3 G>T	7	42017241	42017241	G	T	GLI3	c.1728C>A	NM_000168.5	NP_000159.3:p.(Tyr576Ter)	NC_000007.13:g.42017241G>T	(Likely) pathogenic	1 lab	fad503fc70
11:65308427 LTBP3 TGCAGGG>T	11	65308427	65308439	TGCAGGG	T	LTBP3	c.2894-8_2894-3del	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308434_65308439del	VUS	1 lab	fad5d7f1a7
9:139400058 NOTCH1 G>A	9	139400058	139400058	G	A	NOTCH1	c.4290C>T	NM_017617.5	NP_060087.3:p.(Tyr1430=)	NC_000009.11:g.139400058G>A	(Likely) benign	1 lab	fad65a1b52
5:176715831 NSD1 A>G	5	176715831	176715831	A	G	NSD1	c.6163A>G	NM_022455.4	NP_071900.2:p.(Thr2055Ala)	NC_000005.9:g.176715831A>G	(Likely) pathogenic	1 lab	fad6cdd8e8
3:45870023 LZTFL1 T>C	3	45870023	45870023	T	C	LZTFL1	c.634A>G	NM_001276378.1	NP_001263307.1:p.(Lys212Glu)	NC_000003.11:g.45870023T>C	(Likely) benign	1 lab	fad9b07afb
21:47809365 PCNT G>C	21	47809365	47809365	G	C	PCNT	c.3840+19G>C	NM_006031.5	NP_006022.3:p.?	NC_000021.8:g.47809365G>C	(Likely) benign	1 lab	fadafe87f2
8:72969169 TRPA1 G>A	8	72969169	72969169	G	A	TRPA1	c.1177C>T	NM_007332.2	NP_015628.2:p.(Arg393Ter)	NC_000008.10:g.72969169G>A	VUS	1 lab	fadd861da5
X:108917621 ACSL4 C>A	X	108917621	108917621	C	A	ACSL4	c.1125+10G>T	NM_022977.2	NP_075266.1:p.?	NC_000023.10:g.108917621C>A	(Likely) benign	1 lab	fadf086239
22:50682234 TUBGCP6 C>A	22	50682234	50682234	C	A	TUBGCP6	c.655G>T	NM_020461.3	NP_065194.2:p.(Val219Leu)	NC_000022.10:g.50682234C>A	VUS	1 lab	fadf3d99c4
19:1222986 STK11 G>A	19	1222986	1222986	G	A	STK11	c.923G>A	NM_000455.4	NP_000446.1:p.(Trp308Ter)	NC_000019.9:g.1222986G>A	(Likely) pathogenic	1 lab	fae0062c65
X:70349652 MED12 A>G	X	70349652	70349652	A	G	MED12	c.3814A>G	NM_005120.2	NP_005111.2:p.(Thr1272Ala)	NC_000023.10:g.70349652A>G	VUS	1 lab	fae0d19f69
2:97426755 CNNM4 GGCGGGCGCCCGGTCGGCGGACCGGCCC>G	2	97426755	97426791	GGCGGGCGCCCGGTCGGCGGACCGGCCC	G	CNNM4	c.29_55del	NM_020184.4	NP_064569.3:p.(Pro10_Arg18del)	NC_000002.11:g.97426765_97426791del	VUS	1 lab	fae4290b7c
18:7012083 LAMA1 G>A	18	7012083	7012083	G	A	LAMA1	c.3418C>T	NM_005559.3	NP_005550.2:p.(Arg1140Cys)	NC_000018.9:g.7012083G>A	VUS	1 lab	fae42d8c19
1:78392218 NEXN G>C	1	78392218	78392218	G	C	NEXN	c.609G>C	NM_144573.3	NP_653174.3:p.(Lys203Asn)	NC_000001.10:g.78392218G>C	(Likely) benign	1 lab	fae51d492d
22:20458731 RIMBP3 C>T	22	20458731	20458731	C	T	RIMBP3	c.2571G>A	NM_015672.1	NP_056487.1:p.(Leu857=)	NC_000022.10:g.20458731C>T	(Likely) benign	1 lab	fae6b7f4ca
1:150307457 PRPF3 G>A	1	150307457	150307457	G	A	PRPF3	c.375G>A	NM_001350529.1	NP_001337458.1:p.(Glu125=)	NC_000001.10:g.150307457G>A	(Likely) benign	1 lab	fae6c3059b
19:4555020 SEMA6B C>T	19	4555020	4555020	C	T	SEMA6B	c.650G>A	NM_032108.4	NP_115484.2:p.(Arg217His)	NC_000019.9:g.4555020C>T	VUS	1 lab	fae6e42459
3:33592845 CLASP2 G>C	3	33592845	33592845	G	C	CLASP2	c.3079C>G	NM_015097.3	NP_055912.2:p.(Gln1027Glu)	NC_000003.11:g.33592845G>C	VUS	1 lab	fae7137a69
11:57564380 CTNND1 A>G	11	57564380	57564380	A	G	CTNND1	c.872A>G	NM_001085458.1	NP_001078927.1:p.(Tyr291Cys)	NC_000011.9:g.57564380A>G	VUS	1 lab	faea2b42cb
18:43447536 EPG5 C>T	18	43447536	43447536	C	T	EPG5	c.6403G>A	NM_020964.3	NP_066015.2:p.(Asp2135Asn)	NC_000018.9:g.43447536C>T	VUS	1 lab	faeb134453
14:105415793 AHNAK2 C>T	14	105415793	105415793	C	T	AHNAK2	c.5995G>A	NM_138420.3	NP_612429.2:p.(Gly1999Arg)	NC_000014.8:g.105415793C>T	(Likely) benign	1 lab	faeb890e32
12:102811782 IGF1 C>G	12	102811782	102811782	C	G	IGF1	c.403-1G>C	NM_001111283.2	NP_001104753.1:p.?	NC_000012.11:g.102811782C>G	(Likely) pathogenic	1 lab	faec6031d3
X:44732802 KDM6A A>G	X	44732802	44732802	A	G	KDM6A	c.5A>G	NM_001291415.1	NP_001278344.1:p.(Lys2Arg)	NC_000023.10:g.44732802A>G	(Likely) benign	1 lab	faecef9d84
17:29576055 NF1 CT>C	17	29576055	29576056	CT	C	NF1	c.4029del	NM_001042492.3	NP_001035957.1:p.(Glu1344LysfsTer34)	NC_000017.10:g.29576056del	(Likely) pathogenic	1 lab	faee51a879
3:38888613 SCN11A C>CAAAGTCAG	3	38888613	38888625	C	CAAAGTCAG	SCN11A	c.4940_4947dup	NM_014139.2	NP_054858.2:p.(Ala1650LeufsTer22)	NC_000003.11:g.38888618_38888625dup	VUS	1 lab	faef742248
17:17041299 MPRIP C>T	17	17041299	17041299	C	T	MPRIP	c.806C>T	NM_201274.3	NP_958431.2:p.(Ser269Phe)	NC_000017.10:g.17041299C>T	VUS	1 lab	faefa22db0
19:15760883 CYP4F3 G>A	19	15760883	15760883	G	A	CYP4F3	c.808G>A	NM_000896.2	NP_000887.2:p.(Val270Ile)	NC_000019.9:g.15760883G>A	(Likely) benign	1 lab	faefb71d87
7:143454286 CTAGE6 CTTCTT>C	7	143454286	143454293	CTTCTT	C	CTAGE6	c.461_465del	NM_178561.5	NP_848656.2:p.(Lys154ArgfsTer4)	NC_000007.13:g.143454289_143454293del	(Likely) benign	1 lab	faf011748f
22:18923799 PRODH A>T	22	18923799	18923799	A	T	PRODH	c.2T>A	NM_016335.4	NP_057419.4:p.(Met1?)	NC_000022.10:g.18923799A>T	VUS	1 lab	faf5a13368
18:59763080 PIGN C>A	18	59763080	59763080	C	A	PIGN	c.2180+1G>T	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59763080C>A	VUS	1 lab	faf9ed116f
19:16687930 MED26 C>T	19	16687930	16687930	C	T	MED26	c.711G>A	NM_004831.3	NP_004822.2:p.(Lys237=)	NC_000019.9:g.16687930C>T	(Likely) benign	1 lab	fafb116e33
15:62219356 VPS13C A>G	15	62219356	62219356	A	G	VPS13C	c.6450T>C	NM_001018088.2	NP_001018098.1:p.(Ser2150=)	NC_000015.9:g.62219356A>G	(Likely) benign	1 lab	fafb8373ae
6:24503584 ALDH5A1 A>G	6	24503584	24503584	A	G	ALDH5A1	c.532A>G	NM_170740.1	NP_733936.1:p.(Ile178Val)	NC_000006.11:g.24503584A>G	(Likely) benign	1 lab	fafde95cc1
19:53015105 ZNF578 A>G	19	53015105	53015105	A	G	ZNF578	c.1471A>G	NM_001099694.2	NP_001093164.1:p.(Thr491Ala)	NC_000019.9:g.53015105A>G	VUS	1 lab	fafe31ce4e
2:176973644 HOXD11 A>G	2	176973644	176973644	A	G	HOXD11	c.791A>G	NM_021192.2	NP_067015.2:p.(Gln264Arg)	NC_000002.11:g.176973644A>G	(Likely) benign	1 lab	fafe9361af
X:47101579 USP11 C>T	X	47101579	47101579	C	T	USP11	c.1407C>T	NM_004651.3	NP_004642.2:p.(Pro469=)	NC_000023.10:g.47101579C>T	(Likely) benign	1 lab	faffb090d2
1:207651267 CR2 C>T	1	207651267	207651267	C	T	CR2	c.2940C>T	NM_001006658.2	NP_001006659.1:p.(Ile980=)	NC_000001.10:g.207651267C>T	(Likely) benign	1 lab	faffd60fb7
4:122749303 BBS7 T>C	4	122749303	122749303	T	C	BBS7	c.2012A>G	NM_176824.2	NP_789794.1:p.(Tyr671Cys)	NC_000004.11:g.122749303T>C	VUS	1 lab	fb0098b479
14:29237364 FOXG1 C>T	14	29237364	29237364	C	T	FOXG1	c.879C>T	NM_005249.4	NP_005240.3:p.(Thr293=)	NC_000014.8:g.29237364C>T	(Likely) benign	1 lab	fb0ca2cf62
1:110950431 LAMTOR5 G>A	1	110950431	110950431	G	A	LAMTOR5	c.58C>T	NM_006402.2	NP_006393.2:p.(Gln20Ter)	NC_000001.10:g.110950431G>A	VUS	1 lab	fb036fab0b
15:40917733 KNL1 C>T	15	40917733	40917733	C	T	KNL1	c.5349C>T	NM_170589.4	NP_733468.3:p.(Cys1783=)	NC_000015.9:g.40917733C>T	(Likely) benign	1 lab	fb04f791d5
17:80038729 FASN A>G	17	80038729	80038729	A	G	FASN	c.6665T>C	NM_004104.5	NP_004095.4:p.(Leu2222Pro)	NC_000017.10:g.80038729A>G	VUS	1 lab	fb071736f1
X:101153195 ZMAT1 T>C	X	101153195	101153195	T	C	ZMAT1	c.-962-2A>G	NM_001282400.1	NP_001269329.1:p.?	NC_000023.10:g.101153195T>C	VUS	1 lab	fb07dca74f
X:135594039 HTATSF1 A>G	X	135594039	135594039	A	G	HTATSF1	c.2135A>G	NM_001163280.1	NP_001156752.1:p.(Asp712Gly)	NC_000023.10:g.135594039A>G	(Likely) benign	1 lab	fb08243e55
X:24330906 SUPT20HL2 G>T	X	24330906	24330906	G	T	SUPT20HL2	c.605C>A	NM_001136233.2	NP_001129705.2:p.(Pro202His)	NC_000023.10:g.24330906G>T	VUS	1 lab	fb088cd55c
11:34129773 NAT10 A>G	11	34129773	34129773	A	G	NAT10	c.1A>G	NM_024662.2	NP_078938.2:p.(Met1?)	NC_000011.9:g.34129773A>G	VUS	1 lab	fb0b4d67d5
10:43608351 RET G>A	10	43608351	43608351	G	A	RET	c.1699G>A	NM_020975.4	NP_066124.1:p.(Asp567Asn)	NC_000010.10:g.43608351G>A	(Likely) benign	1 lab	fb0b84250a
2:46378243 PRKCE G>A	2	46378243	46378243	G	A	PRKCE	c.1795G>A	NM_005400.3	NP_005391.1:p.(Glu599Lys)	NC_000002.11:g.46378243G>A	(Likely) pathogenic	1 lab	fb0c1b1bc4
X:152037372 NSDHL C>T	X	152037372	152037372	C	T	NSDHL	c.834C>T	NM_001129765.1	NP_001123237.1:p.(Phe278=)	NC_000023.10:g.152037372C>T	(Likely) benign	1 lab	fb0cf74a20
11:31823423 PAX6 T>C	11	31823423	31823423	T	C	PAX6	c.179A>G	NM_001310158.1	NP_001297087.1:p.(Gln60Arg)	NC_000011.9:g.31823423T>C	(Likely) benign	1 lab	fb0e921a99
12:122064785 ORAI1 A>G	12	122064785	122064785	A	G	ORAI1	c.136_141dup	NM_032790.3	NP_116179.2:p.(Pro46_Pro47dup)	NC_000012.11:g.122064785A>G	(Likely) benign	1 lab	fb0ec2a74f
9:2635550 VLDLR C>T	9	2635550	2635550	C	T	VLDLR	c.180C>T	NM_003383.4	NP_003374.3:p.(Asp60=)	NC_000009.11:g.2635550C>T	(Likely) benign	1 lab	fb0fce7dd1
X:153736621 FAM3A G>A	X	153736621	153736621	G	A	FAM3A	c.375C>T	NM_001282311.1	NP_001269240.1:p.(Asn125=)	NC_000023.10:g.153736621G>A	(Likely) benign	1 lab	fb1062ee65
2:96944340 SNRNP200 C>T	2	96944340	96944340	C	T	SNRNP200	c.5433G>A	NM_014014.4	NP_054733.2:p.(Ala1811=)	NC_000002.11:g.96944340C>T	(Likely) benign	1 lab	fb132a53bf
17:73914273 FBF1 T>C	17	73914273	73914273	T	C	FBF1	c.2216A>G	NM_001319193.1	NP_001306122.1:p.(Asp739Gly)	NC_000017.10:g.73914273T>C	VUS	1 lab	fb13e16658
5:118469695 DMXL1 C>T	5	118469695	118469695	C	T	DMXL1	c.1557C>T	NM_001290322.2	NP_001277251.1:p.(Asp519=)	NC_000005.9:g.118469695C>T	(Likely) benign	1 lab	fb14a35269
9:123171492 CDK5RAP2 T>C	9	123171492	123171492	T	C	CDK5RAP2	c.4517A>G	NM_018249.5	NP_060719.4:p.(Glu1506Gly)	NC_000009.11:g.123171492T>C	VUS	1 lab	fb14b58713
19:43708212 PSG4 C>G	19	43708212	43708212	C	G	PSG4	c.256G>C	NM_002780.5	NP_002771.2:p.(Gly86Arg)	NC_000019.9:g.43708212C>G	(Likely) benign	1 lab	fb15aed8df
3:123401140 MYLK T>C	3	123401140	123401140	T	C	MYLK	c.3583A>G	NM_053025.3	NP_444253.3:p.(Asn1195Asp)	NC_000003.11:g.123401140T>C	VUS	1 lab	fb17e73a11
15:101464847 LRRK1 A>G	15	101464847	101464847	A	G	LRRK1	c.10A>G	NM_024652.5	NP_078928.3:p.(Met4Val)	NC_000015.9:g.101464847A>G	(Likely) benign	1 lab	fb1a77afe9
19:49207064 FUT2 C>T	19	49207064	49207064	C	T	FUT2	c.851C>T	NM_000511.5	NP_000502.4:p.(Thr284Ile)	NC_000019.9:g.49207064C>T	VUS	1 lab	fb1d7ab9f1
17:37821613 TCAP A>G	17	37821613	37821613	A	G	TCAP	c.1A>G	NM_003673.3	NP_003664.1:p.(Met1?)	NC_000017.10:g.37821613A>G	VUS	1 lab	fb1db379b8
9:113444946 MUSK C>T	9	113444946	113444946	C	T	MUSK	c.80-8C>T	NM_005592.3	NP_005583.1:p.?	NC_000009.11:g.113444946C>T	(Likely) benign	1 lab	fb21ada8c1
17:29556297 NF1 T>TA	17	29556297	29556298	T	TA	NF1	c.2665dup	NM_000267.3	NP_000258.1:p.(Thr889AsnfsTer17)	NC_000017.10:g.29556298dup	(Likely) pathogenic	1 lab	fb2218ddce
22:21096939 PI4KA C>T	22	21096939	21096939	C	T	PI4KA	c.3570G>A	NM_058004.3	NP_477352.3:p.(Thr1190=)	NC_000022.10:g.21096939C>T	(Likely) benign	1 lab	fb24d15913
6:35945067 SLC26A8 A>G	6	35945067	35945067	A	G	SLC26A8	c.1087T>C	NM_052961.3	NP_443193.1:p.(Ser363Pro)	NC_000006.11:g.35945067A>G	VUS	1 lab	fb24d89450
3:129279263 PLXND1 G>A	3	129279263	129279263	G	A	PLXND1	c.5043C>T	NM_015103.2	NP_055918.2:p.(Asp1681=)	NC_000003.11:g.129279263G>A	(Likely) benign	1 lab	fb2696f2ce
11:640071 DRD4 C>T	11	640071	640071	C	T	DRD4	c.822C>T	NM_000797.3	NP_000788.2:p.(Cys274=)	NC_000011.9:g.640071C>T	(Likely) benign	1 lab	fb2743d912
10:102781620 PDZD7 C>T	10	102781620	102781620	C	T	PDZD7	c.802G>A	NM_001195263.1	NP_001182192.1:p.(Asp268Asn)	NC_000010.10:g.102781620C>T	VUS	1 lab	fb27458f8e
17:7507072 FXR2 C>T	17	7507072	7507072	C	T	FXR2	c.449+3G>A	NM_004860.3	NP_004851.2:p.?	NC_000017.10:g.7507072C>T	(Likely) benign	1 lab	fb2a9be8bf
19:2249533 AMH T>TC	19	2249533	2249539	T	TC	AMH	c.208dup	NM_000479.4	NP_000470.2:p.(Leu70ProfsTer11)	NC_000019.9:g.2249539dup	(Likely) pathogenic	1 lab	fb2d198957
9:133928320 LAMC3 G>A	9	133928320	133928320	G	A	LAMC3	c.1907G>A	NM_006059.3	NP_006050.3:p.(Arg636His)	NC_000009.11:g.133928320G>A	(Likely) benign	1 lab	fb2d4e1df6
7:114269970 FOXP2 GCAA>G	7	114269970	114269987	GCAA	G	FOXP2	c.522_524del	NM_014491.4	NP_055306.1:p.(Gln191del)	NC_000007.13:g.114269985_114269987del	(Likely) benign	1 lab	fb2f03f02a
19:46832695 HIF3A G>A	19	46832695	46832695	G	A	HIF3A	c.1666G>A	NM_152794.3	NP_690007.1:p.(Asp556Asn)	NC_000019.9:g.46832695G>A	(Likely) benign	1 lab	fb302193a9
12:56096858 ITGA7 T>A	12	56096858	56096858	T	A	ITGA7	c.311A>T	NM_001144996.1	NP_001138468.1:p.(Tyr104Phe)	NC_000012.11:g.56096858T>A	(Likely) benign	1 lab	fb3070d3f0
16:2134995 TSC2 G>T	16	2134995	2134995	G	T	TSC2	c.4537G>T	NM_000548.3	NP_000539.2:p.(Glu1513Ter)	NC_000016.9:g.2134995G>T	(Likely) pathogenic	1 lab	fb3285e56d
14:23744823 HOMEZ A>T	14	23744823	23744823	A	T	HOMEZ	c.1614T>A	NM_020834.2	NP_065885.2:p.(Asp538Glu)	NC_000014.8:g.23744823A>T	(Likely) benign	1 lab	fb32ea090a
10:62038798 ANK3 T>C	10	62038798	62038798	T	C	ANK3	c.315+10A>G	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.62038798T>C	(Likely) benign	1 lab	fb3562c620
17:40695476 NAGLU G>A	17	40695476	40695476	G	A	NAGLU	c.1452G>A	NM_000263.3	NP_000254.2:p.(Gly484=)	NC_000017.10:g.40695476G>A	(Likely) benign	1 lab	fb39219cac
4:39267690 WDR19 A>C	4	39267690	39267690	A	C	WDR19	c.3191A>C	NM_025132.3	NP_079408.3:p.(Gln1064Pro)	NC_000004.11:g.39267690A>C	(Likely) benign	1 lab	fb39275fc7
19:5700942 LONP1 C>T	19	5700942	5700942	C	T	LONP1	c.1368-4G>A	NM_004793.3	NP_004784.2:p.?	NC_000019.9:g.5700942C>T	(Likely) benign	1 lab	fb39fb42e5
16:56540039 BBS2 C>T	16	56540039	56540039	C	T	BBS2	c.710G>A	NM_031885.3	NP_114091.3:p.(Arg237Lys)	NC_000016.9:g.56540039C>T	VUS	1 lab	fb3a59cac5
7:140624468 BRAF C>T	7	140624468	140624468	C	T	BRAF	c.36G>A	NM_001354609.1	NP_001341538.1:p.(Ala12=)	NC_000007.13:g.140624468C>T	(Likely) benign	1 lab	fb3afaedf6
16:2138312 TSC2 C>CG	16	2138312	2138314	C	CG	TSC2	c.5247dup	NM_000548.3	NP_000539.2:p.(Leu1750AlafsTer25)	NC_000016.9:g.2138314dup	(Likely) pathogenic	1 lab	fb3c11d604
13:103701655 SLC10A2 G>A	13	103701655	103701655	G	A	SLC10A2	c.903C>T	NM_000452.2	NP_000443.1:p.(Ala301=)	NC_000013.10:g.103701655G>A	(Likely) benign	1 lab	fb3ca1ce4e
6:42946149 PEX6 G>C	6	42946149	42946149	G	C	PEX6	c.740C>G	NM_000287.3	NP_000278.3:p.(Pro247Arg)	NC_000006.11:g.42946149G>C	VUS	1 lab	fb3e034357
5:149921213 NDST1 G>A	5	149921213	149921213	G	A	NDST1	c.1831G>A	NM_001543.4	NP_001534.1:p.(Gly611Ser)	NC_000005.9:g.149921213G>A	(Likely) pathogenic	1 lab	fb3f517e05
6:65149196 EYS A>G	6	65149196	65149196	A	G	EYS	c.5694T>C	NM_001142800.1	NP_001136272.1:p.(Asn1898=)	NC_000006.11:g.65149196A>G	(Likely) benign	1 lab	fb3f9042fc
17:80050857 FASN G>A	17	80050857	80050857	G	A	FASN	c.694C>T	NM_004104.5	NP_004095.4:p.(Leu232=)	NC_000017.10:g.80050857G>A	(Likely) benign	1 lab	fb439f9a41
1:877590 SAMD11 C>T	1	877590	877590	C	T	SAMD11	c.944C>T	NM_152486.3	NP_689699.2:p.(Pro315Leu)	NC_000001.10:g.877590C>T	VUS	1 lab	fb454e18d9
9:79865115 VPS13A A>C	9	79865115	79865115	A	C	VPS13A	c.2140A>C	NM_033305.2	NP_150648.2:p.(Thr714Pro)	NC_000009.11:g.79865115A>C	VUS	1 lab	fb455ca746
10:105815638 COL17A1 G>A	10	105815638	105815638	G	A	COL17A1	c.1589C>T	NM_000494.4	NP_000485.3:p.(Ala530Val)	NC_000010.10:g.105815638G>A	(Likely) benign	1 lab	fb45b21e96
11:78152130 NARS2 T>C	11	78152130	78152130	T	C	NARS2	c.1289+7A>G	NM_024678.6	NP_078954.4:p.?	NC_000011.9:g.78152130T>C	(Likely) benign	1 lab	fb461185ba
1:16377499 CLCNKB C>T	1	16377499	16377499	C	T	CLCNKB	c.1183C>T	NM_000085.4	NP_000076.2:p.(Arg395Trp)	NC_000001.10:g.16377499C>T	(Likely) benign	1 lab	fb469c2eb6
12:46246491 ARID2 G>A	12	46246491	46246491	G	A	ARID2	c.4585G>A	NM_152641.3	NP_689854.2:p.(Gly1529Arg)	NC_000012.11:g.46246491G>A	VUS	1 lab	fb47166819
1:196748339 CFHR3 G>A	1	196748339	196748339	G	A	CFHR3	c.106G>A	NM_021023.5	NP_066303.2:p.(Glu36Lys)	NC_000001.10:g.196748339G>A	(Likely) benign	1 lab	fb471753e5
4:128807475 PLK4 C>T	4	128807475	128807475	C	T	PLK4	c.950C>T	NM_014264.4	NP_055079.3:p.(Pro317Leu)	NC_000004.11:g.128807475C>T	VUS	1 lab	fb47ad0628
22:50965624 TYMP C>T	22	50965624	50965624	C	T	TYMP	c.735G>A	NM_001113756.2	NP_001107228.1:p.(Gln245=)	NC_000022.10:g.50965624C>T	(Likely) benign	1 lab	fb4950a484
11:44193181 EXT2 G>A	11	44193181	44193181	G	A	EXT2	c.1194G>A	NM_207122.1	NP_997005.1:p.(Ala398=)	NC_000011.9:g.44193181G>A	(Likely) benign	1 lab	fb495912d1
16:85645139 GSE1 T>C	16	85645139	85645139	T	C	GSE1	c.-87+2T>C	NM_001134473.2	NP_001127945.1:p.?	NC_000016.9:g.85645139T>C	(Likely) benign	1 lab	fb4a9923a6
9:137714878 COL5A1 C>T	9	137714878	137714878	C	T	COL5A1	c.4643C>T	NM_000093.4	NP_000084.3:p.(Ser1548Leu)	NC_000009.11:g.137714878C>T	VUS	1 lab	fb4c0c6f14
20:50407012 SALL4 T>TG	20	50407012	50407014	T	TG	SALL4	c.2009dup	NM_020436.3	NP_065169.1:p.(Met671AsnfsTer5)	NC_000020.10:g.50407014dup	(Likely) pathogenic	1 lab	fb4c2fc035
5:37169579 CPLANE1 G>T	5	37169579	37169579	G	T	CPLANE1	c.6547C>A	NM_023073.3	NP_075561.3:p.(Pro2183Thr)	NC_000005.9:g.37169579G>T	(Likely) benign	1 lab	fb4e145c10
2:27745459 GCKR C>T	2	27745459	27745459	C	T	GCKR	c.1705C>T	NM_001486.3	NP_001477.2:p.(Gln569Ter)	NC_000002.11:g.27745459C>T	VUS	1 lab	fb4e60ca1b
17:76993146 CANT1 C>T	17	76993146	76993146	C	T	CANT1	c.559G>A	NM_138793.3	NP_620148.1:p.(Val187Ile)	NC_000017.10:g.76993146C>T	(Likely) benign	1 lab	fb506e57cf
2:211525236 CPS1 C>T	2	211525236	211525236	C	T	CPS1	c.3784C>T	NM_001875.4	NP_001866.2:p.(Arg1262Ter)	NC_000002.11:g.211525236C>T	(Likely) pathogenic	1 lab	fb526a77fc
4:57797217 REST GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA>G	4	57797217	57797300	GGAGCTGTCTCCTCCCATGGAGGTGGTCCAGAAGGAGCCTGTTCAGATA	G	REST	c.2229_2276del	NM_005612.5	NP_005603.3:p.(Gln746_Val761del)	NC_000004.11:g.57797253_57797300del	(Likely) benign	1 lab	fb529f49d2
14:73678584 PSEN1 C>T	14	73678584	73678584	C	T	PSEN1	c.1063C>T	NM_000021.3	NP_000012.1:p.(Pro355Ser)	NC_000014.8:g.73678584C>T	(Likely) benign	1 lab	fb5478ec5d
20:61525238 DIDO1 C>T	20	61525238	61525238	C	T	DIDO1	c.2881G>A	NM_033081.2	NP_149072.2:p.(Val961Ile)	NC_000020.10:g.61525238C>T	VUS	1 lab	fb551bcae8
16:21279024 CRYM T>A	16	21279024	21279024	T	A	CRYM	c.524A>T	NM_001888.4	NP_001879.1:p.(Glu175Val)	NC_000016.9:g.21279024T>A	(Likely) benign	1 lab	fb5561ca1c
9:43625639 SPATA31A6 C>G	9	43625639	43625639	C	G	SPATA31A6	c.3048G>C	NM_001145196.1	NP_001138668.1:p.(Lys1016Asn)	NC_000009.11:g.43625639C>G	(Likely) benign	1 lab	fb558fe45d
19:50154321 SCAF1 C>T	19	50154321	50154321	C	T	SCAF1	c.675C>T	NM_021228.3	NP_067051.2:p.(Phe225=)	NC_000019.9:g.50154321C>T	(Likely) benign	1 lab	fb55d6a602
11:6561177 DNHD1 G>A	11	6561177	6561177	G	A	DNHD1	c.3492G>A	NM_144666.2	NP_653267.2:p.(Ala1164=)	NC_000011.9:g.6561177G>A	(Likely) benign	1 lab	fb5765b78e
7:45650052 ADCY1 G>C	7	45650052	45650052	G	C	ADCY1	c.864G>C	NM_021116.3	NP_066939.1:p.(Glu288Asp)	NC_000007.13:g.45650052G>C	(Likely) benign	1 lab	fb58bbbca0
4:656907 PDE6B T>C	4	656907	656907	T	C	PDE6B	c.1851T>C	NM_000283.3	NP_000274.2:p.(Ala617=)	NC_000004.11:g.656907T>C	(Likely) benign	1 lab	fb59019386
20:34092729 CEP250 C>T	20	34092729	34092729	C	T	CEP250	c.6532C>T	NM_007186.5	NP_009117.2:p.(Leu2178Phe)	NC_000020.10:g.34092729C>T	VUS	1 lab	fb5a2d2808
3:134266213 CEP63 CT>C	3	134266213	134266214	CT	C	CEP63	c.967del	NM_001353108.3	NP_001340037.1:p.(Ser323LeufsTer7)	NC_000003.11:g.134266214del	(Likely) pathogenic	1 lab	fb5b154528
X:19854318 SH3KBP1 G>A	X	19854318	19854318	G	A	SH3KBP1	c.87C>T	NM_001353891.1	NP_001340820.1:p.(Ile29=)	NC_000023.10:g.19854318G>A	(Likely) benign	1 lab	fb5b1f15b7
7:2953016 CARD11 C>T	7	2953016	2953016	C	T	CARD11	c.2924G>A	NM_001324281.1	NP_001311210.1:p.(Arg975Gln)	NC_000007.13:g.2953016C>T	VUS	1 lab	fb5d0b803b
2:109380129 RANBP2 C>T	2	109380129	109380129	C	T	RANBP2	c.3134C>T	NM_006267.4	NP_006258.3:p.(Thr1045Met)	NC_000002.11:g.109380129C>T	VUS	1 lab	fb5f3464ff
19:2217035 DOT1L G>A	19	2217035	2217035	G	A	DOT1L	c.2490G>A	NM_032482.2	NP_115871.1:p.(Pro830=)	NC_000019.9:g.2217035G>A	(Likely) benign	1 lab	fb62ec5bf3
14:76241920 TTLL5 C>T	14	76241920	76241920	C	T	TTLL5	c.2230C>T	NM_015072.4	NP_055887.3:p.(Arg744Cys)	NC_000014.8:g.76241920C>T	VUS	1 lab	fb63a4c362
6:31829172 NEU1 C>T	6	31829172	31829172	C	T	NEU1	c.408G>A	NM_000434.3	NP_000425.1:p.(Gly136=)	NC_000006.11:g.31829172C>T	(Likely) benign	1 lab	fb640fe752
7:27213262 HOXA10 T>C	7	27213262	27213262	T	C	HOXA10	c.664A>G	NM_018951.4	NP_061824.3:p.(Thr222Ala)	NC_000007.13:g.27213262T>C	(Likely) benign	1 lab	fb6420cc96
22:50656942 TUBGCP6 G>A	22	50656942	50656942	G	A	TUBGCP6	c.4929C>T	NM_020461.3	NP_065194.2:p.(Asp1643=)	NC_000022.10:g.50656942G>A	(Likely) benign	1 lab	fb6684d2da
10:119036769 SLC18A2 A>G	10	119036769	119036769	A	G	SLC18A2	c.1537A>G	NM_003054.6	NP_003045.2:p.(Ser513Gly)	NC_000010.10:g.119036769A>G	VUS	1 lab	fb6a688a28
1:237868595 RYR2 CAT>C	1	237868595	237868598	CAT	C	RYR2	c.9534_9535del	NM_001035.3	NP_001026.2:p.(His3178GlnfsTer22)	NC_000001.10:g.237868597_237868598del	VUS	1 lab	fb6c4a866c
15:62302765 VPS13C T>C	15	62302765	62302765	T	C	VPS13C	c.917A>G	NM_001018088.2	NP_001018098.1:p.(Tyr306Cys)	NC_000015.9:g.62302765T>C	(Likely) benign	1 lab	fb6cc3209c
9:132861805 GPR107 C>G	9	132861805	132861805	C	G	GPR107	c.933C>G	NM_001136557.1	NP_001130029.1:p.(Phe311Leu)	NC_000009.11:g.132861805C>G	VUS	1 lab	fb6cc9d335
10:112404325 RBM20 C>T	10	112404325	112404325	C	T	RBM20	c.113C>T	NM_001134363.1	NP_001127835.1:p.(Pro38Leu)	NC_000010.10:g.112404325C>T	VUS	1 lab	fb6fee6389
2:135920683 RAB3GAP1 T>G	2	135920683	135920683	T	G	RAB3GAP1	c.2606+12T>G	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135920683T>G	(Likely) benign	1 lab	fb702cecc1
X:153581029 FLNA C>T	X	153581029	153581029	C	T	FLNA	c.6394G>A	NM_001110556.2	NP_001104026.1:p.(Val2132Met)	NC_000023.10:g.153581029C>T	VUS	1 lab	fb7077b411
4:175429945 HPGD T>A	4	175429945	175429945	T	A	HPGD	c.325-2A>T	NM_000860.5	NP_000851.2:p.?	NC_000004.11:g.175429945T>A	VUS	1 lab	fb7196bbdc
2:209191100 PIKFYVE G>C	2	209191100	209191100	G	C	PIKFYVE	c.3565G>C	NM_015040.3	NP_055855.2:p.(Glu1189Gln)	NC_000002.11:g.209191100G>C	VUS	1 lab	fb72db276d
19:10463616 TYK2 G>T	19	10463616	10463616	G	T	TYK2	c.3186C>A	NM_003331.4	NP_003322.3:p.(Asp1062Glu)	NC_000019.9:g.10463616G>T	(Likely) benign	1 lab	fb73568b5b
6:152711429 SYNE1 G>A	6	152711429	152711429	G	A	SYNE1	c.8163C>T	NM_182961.3	NP_892006.3:p.(Ser2721=)	NC_000006.11:g.152711429G>A	(Likely) benign	1 lab	fb739c933d
3:121206652 POLQ T>C	3	121206652	121206652	T	C	POLQ	c.5126A>G	NM_199420.4	NP_955452.3:p.(Glu1709Gly)	NC_000003.11:g.121206652T>C	(Likely) benign	1 lab	fb759815f6
15:31318337 TRPM1 C>A	15	31318337	31318337	C	A	TRPM1	c.3680+5G>T	NM_001252020.1	NP_001238949.1:p.?	NC_000015.9:g.31318337C>A	VUS	1 lab	fb76a25875
X:54961388 PFKFB1 A>AC	X	54961388	54961389	A	AC	PFKFB1	c.1282dup	NM_002625.3	NP_002616.2:p.(Val428GlyfsTer25)	NC_000023.10:g.54961389dup	VUS	1 lab	fb785610d3
16:4790286 DNAAF8 C>G	16	4790286	4790286	C	G	DNAAF8	c.409C>G	NM_139170.3	NP_631909.2:p.(Leu137Val)	NC_000016.9:g.4790286C>G	VUS	1 lab	fb78569ef4
8:38959374 ADAM9 C>T	8	38959374	38959374	C	T	ADAM9	c.2299-8C>T	NM_003816.2	NP_003807.1:p.?	NC_000008.10:g.38959374C>T	(Likely) benign	1 lab	fb7a739dae
19:54327400 NLRP12 A>G	19	54327400	54327400	A	G	NLRP12	c.29T>C	NM_001277126.1	NP_001264055.1:p.(Leu10Pro)	NC_000019.9:g.54327400A>G	VUS	1 lab	fb7ab71352
11:71806516 LRTOMT C>T	11	71806516	71806516	C	T	LRTOMT	c.529C>T	NM_145309.5	NP_660352.1:p.(Arg177Cys)	NC_000011.9:g.71806516C>T	VUS	1 lab	fb7af717da
11:118894023 TRAPPC4 C>T	11	118894023	118894023	C	T	TRAPPC4	c.267-8C>T	NM_001318492.1	NP_001305421.1:p.?	NC_000011.9:g.118894023C>T	(Likely) benign	1 lab	fb7c680acd
7:103206735 RELN T>C	7	103206735	103206735	T	C	RELN	c.4872A>G	NM_005045.3	NP_005036.2:p.(Gln1624=)	NC_000007.13:g.103206735T>C	(Likely) benign	1 lab	fb7e3d2a1e
X:154743793 TMLHE C>T	X	154743793	154743793	C	T	TMLHE	c.492G>A	NM_018196.3	NP_060666.1:p.(Ser164=)	NC_000023.10:g.154743793C>T	(Likely) benign	1 lab	fb7fea0063
6:70983763 COL9A1 G>A	6	70983763	70983763	G	A	COL9A1	c.1052C>T	NM_001851.4	NP_001842.3:p.(Ser351Leu)	NC_000006.11:g.70983763G>A	VUS	1 lab	fb82754a63
11:17655363 OTOG C>T	11	17655363	17655363	C	T	OTOG	c.7245C>T	NM_001277269.1	NP_001264198.1:p.(Ser2415=)	NC_000011.9:g.17655363C>T	(Likely) benign	1 lab	fb8322d3d0
X:152085682 ZNF185 A>G	X	152085682	152085682	A	G	ZNF185	c.232A>G	NM_001178106.1	NP_001171577.1:p.(Ser78Gly)	NC_000023.10:g.152085682A>G	(Likely) benign	1 lab	fb83421c43
1:12012776 PLOD1 TGGACCC>T	1	12012776	12012785	TGGACCC	T	PLOD1	c.567_572del	NM_000302.4	NP_000293.2:p.(Asp189_Pro190del)	NC_000001.10:g.12012780_12012785del	VUS	1 lab	fb835d7e61
1:34498304 CSMD2 G>A	1	34498304	34498304	G	A	CSMD2	c.408C>T	NM_001281956.1	NP_001268885.1:p.(Leu136=)	NC_000001.10:g.34498304G>A	(Likely) benign	1 lab	fb85041ee9
17:42335831 SLC4A1 C>A	17	42335831	42335831	C	A	SLC4A1	c.1037G>T	NM_000342.3	NP_000333.1:p.(Arg346Leu)	NC_000017.10:g.42335831C>A	VUS	1 lab	fb8512d1bd
X:37701097 DYNLT3 G>A	X	37701097	37701097	G	A	DYNLT3	c.134C>T	NM_006520.2	NP_006511.1:p.(Ala45Val)	NC_000023.10:g.37701097G>A	VUS	1 lab	fb85509506
9:139905753 ABCA2 C>T	9	139905753	139905753	C	T	ABCA2	c.5898G>A	NM_212533.2	NP_997698.1:p.(Lys1966=)	NC_000009.11:g.139905753C>T	(Likely) benign	1 lab	fb86eb51e6
2:179563634 TTN T>C	2	179563634	179563634	T	C	TTN	c.30690A>G	NM_001267550.1	NP_001254479.1:p.(Lys10230=)	NC_000002.11:g.179563634T>C	(Likely) benign	1 lab	fb88ffa762
17:79479064 ACTG1 G>A	17	79479064	79479064	G	A	ACTG1	c.228C>T	NM_001199954.2	NP_001186883.1:p.(Val76=)	NC_000017.10:g.79479064G>A	(Likely) benign	1 lab	fb8c038b08
3:12641168 RAF1 AAAGGGAGGGCCCC>A	3	12641168	12641184	AAAGGGAGGGCCCC	A	RAF1	c.1108+9_1108+21del	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12641172_12641184del	(Likely) benign	1 lab	fb8e965f45
7:50607667 DDC C>T	7	50607667	50607667	C	T	DDC	c.261G>A	NM_001082971.1	NP_001076440.1:p.(Pro87=)	NC_000007.13:g.50607667C>T	(Likely) benign	1 lab	fb92e02441
9:133914419 LAMC3 C>T	9	133914419	133914419	C	T	LAMC3	c.1145C>T	NM_006059.3	NP_006050.3:p.(Pro382Leu)	NC_000009.11:g.133914419C>T	VUS	1 lab	fb93276937
7:66453459 SBDS G>A	7	66453459	66453459	G	A	SBDS	c.652C>T	NM_016038.2	NP_057122.2:p.(Arg218Ter)	NC_000007.13:g.66453459G>A	(Likely) pathogenic	1 lab	fb94596544
19:1621034 TCF3 C>T	19	1621034	1621034	C	T	TCF3	c.1026G>A	NM_003200.5	NP_003191.1:p.(Pro342=)	NC_000019.9:g.1621034C>T	(Likely) benign	1 lab	fb946ada5f
2:27459336 CAD C>T	2	27459336	27459336	C	T	CAD	c.4259C>T	NM_004341.4	NP_004332.2:p.(Ala1420Val)	NC_000002.11:g.27459336C>T	(Likely) benign	1 lab	fb9515c363
1:22987864 C1QB A>C	1	22987864	22987864	A	C	C1QB	c.747A>C	NM_000491.3	NP_000482.3:p.(Pro249=)	NC_000001.10:g.22987864A>C	(Likely) benign	1 lab	fb9618ddbf
10:17156173 CUBN C>T	10	17156173	17156173	C	T	CUBN	c.736G>A	NM_001081.3	NP_001072.2:p.(Val246Ile)	NC_000010.10:g.17156173C>T	(Likely) benign	1 lab	fb985bb867
19:55570590 RDH13 G>A	19	55570590	55570590	G	A	RDH13	c.119C>T	NM_001145971.1	NP_001139443.1:p.(Thr40Met)	NC_000019.9:g.55570590G>A	VUS	1 lab	fb987c7dab
14:95562889 DICER1 C>T	14	95562889	95562889	C	T	DICER1	c.4368G>A	NM_030621.4	NP_085124.2:p.(Met1456Ile)	NC_000014.8:g.95562889C>T	VUS	1 lab	fb99583027
2:27671875 IFT172 A>G	2	27671875	27671875	A	G	IFT172	c.4335T>C	NM_015662.2	NP_056477.1:p.(Tyr1445=)	NC_000002.11:g.27671875A>G	(Likely) benign	1 lab	fb9998605c
16:2110735 TSC2 A>G	16	2110735	2110735	A	G	TSC2	c.1040A>G	NM_000548.3	NP_000539.2:p.(Lys347Arg)	NC_000016.9:g.2110735A>G	(Likely) benign	1 lab	fb9a582a56
X:151821051 GABRQ C>G	X	151821051	151821051	C	G	GABRQ	c.1206C>G	NM_018558.3	NP_061028.3:p.(Thr402=)	NC_000023.10:g.151821051C>G	(Likely) benign	1 lab	fb9d860695
19:1401428 GAMT G>A	19	1401428	1401428	G	A	GAMT	c.48C>T	NM_138924.2	NP_620279.1:p.(Cys16=)	NC_000019.9:g.1401428G>A	(Likely) benign	1 lab	fb9dfdfde4
3:48696417 CELSR3 C>A	3	48696417	48696417	C	A	CELSR3	c.3651G>T	NM_001407.2	NP_001398.2:p.(Gln1217His)	NC_000003.11:g.48696417C>A	VUS	1 lab	fb9e349e5f
1:198685880 PTPRC A>T	1	198685880	198685880	A	T	PTPRC	c.1361A>T	NM_002838.4	NP_002829.3:p.(Lys454Ile)	NC_000001.10:g.198685880A>T	(Likely) benign	1 lab	fba1310de3
14:23876426 MYH6 C>T	14	23876426	23876426	C	T	MYH6	c.7G>A	NM_002471.3	NP_002462.2:p.(Asp3Asn)	NC_000014.8:g.23876426C>T	VUS	1 lab	fba3c87e06
2:189856959 COL3A1 G>C	2	189856959	189856959	G	C	COL3A1	c.996+5G>C	NM_000090.3	NP_000081.1:p.?	NC_000002.11:g.189856959G>C	(Likely) pathogenic	1 lab	fba8859b28
5:130987649 FNIP1 A>G	5	130987649	130987649	A	G	FNIP1	c.3152T>C	NM_133372.3	NP_588613.3:p.(Ile1051Thr)	NC_000005.9:g.130987649A>G	VUS	1 lab	fba918688f
22:46932655 CELSR1 C>A	22	46932655	46932655	C	A	CELSR1	c.413G>T	NM_014246.1	NP_055061.1:p.(Gly138Val)	NC_000022.10:g.46932655C>A	(Likely) benign	1 lab	fba9a44990
9:2651440 VLDLR T>C	9	2651440	2651440	T	C	VLDLR	c.2277T>C	NM_003383.4	NP_003374.3:p.(Ser759=)	NC_000009.11:g.2651440T>C	(Likely) benign	1 lab	fbaae11d5f
2:109383020 RANBP2 G>A	2	109383020	109383020	G	A	RANBP2	c.6025G>A	NM_006267.4	NP_006258.3:p.(Asp2009Asn)	NC_000002.11:g.109383020G>A	VUS	1 lab	fbab2128fb
2:179442756 TTN G>T	2	179442756	179442756	G	T	TTN	c.68486C>A	NM_001267550.1	NP_001254479.1:p.(Pro22829Gln)	NC_000002.11:g.179442756G>T	VUS	1 lab	fbac937ec1
8:62580802 ASPH T>C	8	62580802	62580802	T	C	ASPH	c.313A>G	NM_020164.4	NP_064549.1:p.(Lys105Glu)	NC_000008.10:g.62580802T>C	(Likely) benign	1 lab	fbaf7fa2c4
4:56840916 CEP135 A>G	4	56840916	56840916	A	G	CEP135	c.1254A>G	NM_025009.4	NP_079285.2:p.(Arg418=)	NC_000004.11:g.56840916A>G	(Likely) benign	1 lab	fbafdc63bd
13:23915190 SACS G>A	13	23915190	23915190	G	A	SACS	c.2825C>T	NM_014363.5	NP_055178.3:p.(Thr942Ile)	NC_000013.10:g.23915190G>A	(Likely) benign	1 lab	fbb00a56e2
1:240371667 FMN2 T>C	1	240371667	240371667	T	C	FMN2	c.3555T>C	NM_020066.5	NP_064450.3:p.(Pro1185=)	NC_000001.10:g.240371667T>C	(Likely) benign	1 lab	fbb0d3bf82
11:118898472 SLC37A4 G>A	11	118898472	118898472	G	A	SLC37A4	c.492C>T	NM_001164277.1	NP_001157749.1:p.(Ser164=)	NC_000011.9:g.118898472G>A	(Likely) benign	1 lab	fbb3080801
5:94803676 SKIC3 A>G	5	94803676	94803676	A	G	SKIC3	c.4514T>C	NM_014639.3	NP_055454.1:p.(Leu1505Ser)	NC_000005.9:g.94803676A>G	(Likely) pathogenic	1 lab	fbb3cbee66
10:93948 TUBB8 G>T	10	93948	93948	G	T	TUBB8	c.384C>A	NM_177987.2	NP_817124.1:p.(Asp128Glu)	NC_000010.10:g.93948G>T	VUS	1 lab	fbb6c65c20
14:23858795 MYH6 C>A	14	23858795	23858795	C	A	MYH6	c.3859+7G>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858795C>A	(Likely) benign	1 lab	fbb9ee35ba
14:50099989 DNAAF2 T>C	14	50099989	50099989	T	C	DNAAF2	c.1863+16A>G	NM_018139.2	NP_060609.2:p.?	NC_000014.8:g.50099989T>C	(Likely) benign	1 lab	fbbbda9e05
5:140711970 PCDHGA1 C>T	5	140711970	140711970	C	T	PCDHGA1	c.1719C>T	NM_018912.2	NP_061735.1:p.(Thr573=)	NC_000005.9:g.140711970C>T	(Likely) benign	1 lab	fbbc5772a9
5:180040079 FLT4 A>G	5	180040079	180040079	A	G	FLT4	c.3363T>C	NM_182925.4	NP_891555.2:p.(Asn1121=)	NC_000005.9:g.180040079A>G	(Likely) benign	1 lab	fbbd5edf5b
9:101891071 TGFBR1 T>C	9	101891071	101891071	T	C	TGFBR1	c.98-66T>C	NM_004612.3	NP_004603.1:p.?	NC_000009.11:g.101891071T>C	(Likely) benign	1 lab	fbbda87698
14:100317232 EML1 G>A	14	100317232	100317232	G	A	EML1	c.110G>A	NM_001008707.1	NP_001008707.1:p.(Arg37His)	NC_000014.8:g.100317232G>A	VUS	1 lab	fbbdcb61fc
1:210977365 KCNH1 C>T	1	210977365	210977365	C	T	KCNH1	c.1606G>A	NM_172362.2	NP_758872.1:p.(Val536Ile)	NC_000001.10:g.210977365C>T	VUS	1 lab	fbc07f8454
2:179632779 TTN C>T	2	179632779	179632779	C	T	TTN	c.9267G>A	NM_001267550.1	NP_001254479.1:p.(Gln3089=)	NC_000002.11:g.179632779C>T	(Likely) benign	1 lab	fbc4379310
X:154743924 TMLHE G>A	X	154743924	154743924	G	A	TMLHE	c.361C>T	NM_018196.3	NP_060666.1:p.(Pro121Ser)	NC_000023.10:g.154743924G>A	VUS	1 lab	fbc74ac014
9:88292506 AGTPBP1 T>TA	9	88292506	88292520	T	TA	AGTPBP1	c.290-10dup	NM_001330701.1	NP_001317630.1:p.?	NC_000009.11:g.88292520dup	(Likely) benign	1 lab	fbc82a3c1f
10:119003689 SLC18A2 C>T	10	119003689	119003689	C	T	SLC18A2	c.329C>T	NM_003054.6	NP_003045.2:p.(Ala110Val)	NC_000010.10:g.119003689C>T	(Likely) benign	1 lab	fbc9322bd5
13:108863236 LIG4 C>G	13	108863236	108863236	C	G	LIG4	c.381G>C	NM_001352599.1	NP_001339528.1:p.(Met127Ile)	NC_000013.10:g.108863236C>G	(Likely) benign	1 lab	fbcd5f5b3f
X:53264307 IQSEC2 C>T	X	53264307	53264307	C	T	IQSEC2	c.3561G>A	NM_001111125.2	NP_001104595.1:p.(Pro1187=)	NC_000023.10:g.53264307C>T	(Likely) benign	1 lab	fbced57da9
2:158617570 ACVR1 G>T	2	158617570	158617570	G	T	ACVR1	c.1086C>A	NM_001105.4	NP_001096.1:p.(Ser362=)	NC_000002.11:g.158617570G>T	(Likely) benign	1 lab	fbceedcd45
18:55247397 FECH C>T	18	55247397	55247397	C	T	FECH				NC_000018.9:g.55247397C>T	(Likely) pathogenic	1 lab	fbcf87d289
9:135787840 TSC1 T>A	9	135787840	135787840	T	A	TSC1	c.742A>T	NM_000368.4	NP_000359.1:p.(Lys248Ter)	NC_000009.11:g.135787840T>A	(Likely) pathogenic	1 lab	fbcfaef9bc
19:53856150 ZNF845 A>AT	19	53856150	53856151	A	AT	ZNF845	c.2223dup	NM_001321522.1	NP_001308451.1:p.(Thr742TyrfsTer9)	NC_000019.9:g.53856151dup	(Likely) benign	1 lab	fbd24c42ce
X:30327307 NR0B1 C>T	X	30327307	30327307	C	T	NR0B1	c.174G>A	NM_000475.4	NP_000466.2:p.(Arg58=)	NC_000023.10:g.30327307C>T	(Likely) benign	1 lab	fbd40219cd
16:2140810 PKD1 C>CTG	16	2140810	2140812	C	CTG	PKD1	c.12004-3_12004-2dup	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2140811_2140812dup	VUS	1 lab	fbd5b389ce
17:29661956 NF1 T>TA	17	29661956	29661957	T	TA	NF1	c.5851dup	NM_000267.3	NP_000258.1:p.(Thr1951AsnfsTer5)	NC_000017.10:g.29661957dup	(Likely) pathogenic	1 lab	fbd5d94233
8:3611465 CSMD1 G>A	8	3611465	3611465	G	A	CSMD1	c.918C>T	NM_033225.6	NP_150094.5:p.(Asn306=)	NC_000008.10:g.3611465G>A	(Likely) benign	1 lab	fbd6bfa830
X:153225497 HCFC1 A>G	X	153225497	153225497	A	G	HCFC1	c.1200T>C	NM_005334.2	NP_005325.2:p.(Tyr400=)	NC_000023.10:g.153225497A>G	(Likely) benign	1 lab	fbd8208bb4
X:79985516 BRWD3 T>C	X	79985516	79985516	T	C	BRWD3	c.1131A>G	NM_153252.4	NP_694984.4:p.(Leu377=)	NC_000023.10:g.79985516T>C	(Likely) benign	1 lab	fbd8d0d64d
11:70829923 SHANK2 G>T	11	70829923	70829923	G	T	SHANK2	c.363C>A	NM_012309.4	NP_036441.2:p.(Leu121=)	NC_000011.9:g.70829923G>T	(Likely) benign	1 lab	fbd9393bd4
17:42429727 GRN C>G	17	42429727	42429727	C	G	GRN	c.1432C>G	NM_002087.2	NP_002078.1:p.(Arg478Gly)	NC_000017.10:g.42429727C>G	(Likely) benign	1 lab	fbdc6dd501
1:36563402 COL8A2 T>G	1	36563402	36563402	T	G	COL8A2	c.1880A>C	NM_005202.3	NP_005193.1:p.(His627Pro)	NC_000001.10:g.36563402T>G	VUS	1 lab	fbdd141f42
16:84203511 DNAAF1 G>A	16	84203511	84203511	G	A	DNAAF1	c.1077G>A	NM_178452.5	NP_848547.4:p.(Ala359=)	NC_000016.9:g.84203511G>A	(Likely) benign	1 lab	fbdde399d0
4:15004878 CPEB2 A>AGCC	4	15004878	15004893	A	AGCC	CPEB2	c.594_596dup	NM_001177382.1	NP_001170853.1:p.(Pro201dup)	NC_000004.11:g.15004891_15004893dup	(Likely) benign	1 lab	fbe0d775eb
11:66455092 SPTBN2 A>G	11	66455092	66455092	A	G	SPTBN2	c.6528T>C	NM_006946.3	NP_008877.1:p.(Asn2176=)	NC_000011.9:g.66455092A>G	(Likely) benign	1 lab	fbe3dc6ed4
17:40557088 CAVIN1 C>A	17	40557088	40557088	C	A	CAVIN1	c.790G>T	NM_012232.5	NP_036364.2:p.(Glu264Ter)	NC_000017.10:g.40557088C>A	(Likely) pathogenic	1 lab	fbe4a66885
22:41923931 ACO2 C>T	22	41923931	41923931	C	T	ACO2	c.2113C>T	NM_001098.2	NP_001089.1:p.(Leu705=)	NC_000022.10:g.41923931C>T	(Likely) benign	1 lab	fbe5c51bd5
4:55570042 KIT A>C	4	55570042	55570042	A	C	KIT	c.909A>C	NM_000222.2	NP_000213.1:p.(Thr303=)	NC_000004.11:g.55570042A>C	(Likely) benign	1 lab	fbe62f6e19
22:30951045 GAL3ST1 G>A	22	30951045	30951045	G	A	GAL3ST1	c.1167C>T	NM_001318106.1	NP_001305035.1:p.(Leu389=)	NC_000022.10:g.30951045G>A	(Likely) benign	1 lab	fbe6f44366
11:679687 DEAF1 C>T	11	679687	679687	C	T	DEAF1	c.1126+1G>A	NM_021008.3	NP_066288.2:p.?	NC_000011.9:g.679687C>T	(Likely) pathogenic	1 lab	fbe9c97d65
14:23588112 CEBPE C>T	14	23588112	23588112	C	T	CEBPE				NC_000014.8:g.23588112C>T	(Likely) benign	1 lab	fbea3e1f80
2:1647324 PXDN C>G	2	1647324	1647324	C	G	PXDN	c.3768G>C	NM_012293.2	NP_036425.1:p.(Val1256=)	NC_000002.11:g.1647324C>G	(Likely) benign	1 lab	fbee59ad15
7:128035331 IMPDH1 G>A	7	128035331	128035331	G	A	IMPDH1	c.1262-3C>T	NM_000883.3	NP_000874.2:p.?	NC_000007.13:g.128035331G>A	VUS	1 lab	fbf38e3e7e
4:126389900 FAT4 A>G	4	126389900	126389900	A	G	FAT4	c.12139A>G	NM_001291303.1	NP_001278232.1:p.(Thr4047Ala)	NC_000004.11:g.126389900A>G	(Likely) benign	1 lab	fbf6917a62
3:132215459 DNAJC13 A>C	3	132215459	132215459	A	C	DNAJC13	c.4123A>C	NM_001329126.1	NP_001316055.1:p.(Ile1375Leu)	NC_000003.11:g.132215459A>C	(Likely) benign	1 lab	fbf6d20506
11:124740168 ROBO3 C>T	11	124740168	124740168	C	T	ROBO3	c.874C>T	NM_022370.3	NP_071765.2:p.(Arg292Cys)	NC_000011.9:g.124740168C>T	VUS	1 lab	fbfa8490ed
16:3777742 CREBBP C>T	16	3777742	3777742	C	T	CREBBP	c.7306G>A	NM_004380.2	NP_004371.2:p.(Glu2436Lys)	NC_000016.9:g.3777742C>T	VUS	1 lab	fbfb179a2c
2:179527069 TTN G>A	2	179527069	179527069	G	A	TTN	c.37035C>T	NM_001267550.1	NP_001254479.1:p.(Val12345=)	NC_000002.11:g.179527069G>A	(Likely) benign	1 lab	fbfbe38912
19:51883882 LIM2 C>G	19	51883882	51883882	C	G	LIM2	c.463G>C	NM_030657.3	NP_085915.2:p.(Val155Leu)	NC_000019.9:g.51883882C>G	(Likely) benign	1 lab	fbfc20f474
16:3632349 SLX4 C>T	16	3632349	3632349	C	T	SLX4	c.5499G>A	NM_032444.2	NP_115820.2:p.(Arg1833=)	NC_000016.9:g.3632349C>T	(Likely) benign	1 lab	fbfe42d46e
10:102016086 CWF19L1 A>T	10	102016086	102016086	A	T	CWF19L1	c.26T>A	NM_001303405.1	NP_001290334.1:p.(Phe9Tyr)	NC_000010.10:g.102016086A>T	VUS	1 lab	fbfe6216ab
20:10629312 JAG1 TCACA>T	20	10629312	10629316	TCACA	T	JAG1	c.1450_1453del	NM_000214.3	NP_000205.1:p.(Cys484ArgfsTer13)	NC_000020.10:g.10629313_10629316del	(Likely) pathogenic	1 lab	fbff9e31e4
7:87072625 ABCB4 T>C	7	87072625	87072625	T	C	ABCB4	c.1356+10A>G	NM_018849.2	NP_061337.1:p.?	NC_000007.13:g.87072625T>C	(Likely) benign	1 lab	fbffd773da
9:117228632 WHRN G>C	9	117228632	117228632	G	C	WHRN	c.878C>G	NM_015404.3	NP_056219.3:p.(Thr293Arg)	NC_000009.11:g.117228632G>C	VUS	1 lab	fc02218609
9:111659268 ELP1 A>C	9	111659268	111659268	A	C	ELP1	c.2552T>G	NM_003640.3	NP_003631.2:p.(Leu851Arg)	NC_000009.11:g.111659268A>C	VUS	1 lab	fc022fea72
7:55259429 EGFR G>A	7	55259429	55259429	G	A	EGFR	c.2352G>A	NM_001346899.1	NP_001333828.1:p.(Glu784=)	NC_000007.13:g.55259429G>A	(Likely) benign	1 lab	fc02d51d63
1:44415772 IPO13 C>T	1	44415772	44415772	C	T	IPO13	c.768C>T	NM_014652.4	NP_055467.3:p.(Phe256=)	NC_000001.10:g.44415772C>T	(Likely) benign	1 lab	fc032ee5ee
1:120471789 NOTCH2 A>G	1	120471789	120471789	A	G	NOTCH2	c.3702T>C	NM_024408.3	NP_077719.2:p.(His1234=)	NC_000001.10:g.120471789A>G	(Likely) benign	1 lab	fc033625d4
X:24329388 SUPT20HL2 G>C	X	24329388	24329388	G	C	SUPT20HL2	c.2123C>G	NM_001136233.2	NP_001129705.2:p.(Ala708Gly)	NC_000023.10:g.24329388G>C	(Likely) benign	1 lab	fc036f69da
3:69054335 EOGT G>A	3	69054335	69054335	G	A	EOGT	c.471C>T	NM_001278689.1	NP_001265618.1:p.(Thr157=)	NC_000003.11:g.69054335G>A	(Likely) benign	1 lab	fc042e22c5
18:57006051 LMAN1 A>G	18	57006051	57006051	A	G	LMAN1	c.1090T>C	NM_005570.3	NP_005561.1:p.(Ser364Pro)	NC_000018.9:g.57006051A>G	VUS	1 lab	fc0716e3cf
1:196645156 CFH G>A	1	196645156	196645156	G	A	CFH	c.388G>A	NM_000186.3	NP_000177.2:p.(Asp130Asn)	NC_000001.10:g.196645156G>A	VUS	1 lab	fc07943a15
X:66905875 AR A>G	X	66905875	66905875	A	G	AR	c.1792A>G	NM_000044.4	NP_000035.2:p.(Ser598Gly)	NC_000023.10:g.66905875A>G	(Likely) pathogenic	1 lab	fc0a2b2d32
4:107092301 TBCK G>C	4	107092301	107092301	G	C	TBCK	c.1670C>G	NM_001290768.1	NP_001277697.1:p.(Ser557Trp)	NC_000004.11:g.107092301G>C	VUS	1 lab	fc0b915c64
12:102159899 GNPTAB AG>A	12	102159899	102159901	AG	A	GNPTAB	c.1581del	NM_024312.5	NP_077288.2:p.(Cys528ValfsTer19)	NC_000012.11:g.102159901del	(Likely) pathogenic	1 lab	fc0c50973d
X:66937451 AR C>A	X	66937451	66937451	C	A	AR	c.2305C>A	NM_000044.4	NP_000035.2:p.(Leu769Met)	NC_000023.10:g.66937451C>A	(Likely) pathogenic	1 lab	fc0e066100
7:1524970 INTS1 G>A	7	1524970	1524970	G	A	INTS1	c.3112C>T	NM_001080453.3	NP_001073922.2:p.(Leu1038=)	NC_000007.13:g.1524970G>A	(Likely) benign	1 lab	fc0e53037a
16:72821656 ZFHX3 C>T	16	72821656	72821656	C	T	ZFHX3	c.10519G>A	NM_006885.3	NP_008816.3:p.(Gly3507Ser)	NC_000016.9:g.72821656C>T	VUS	1 lab	fc0ed93d77
16:72822471 ZFHX3 T>C	16	72822471	72822471	T	C	ZFHX3	c.9704A>G	NM_006885.3	NP_008816.3:p.(Lys3235Arg)	NC_000016.9:g.72822471T>C	VUS	1 lab	fc1140cae8
X:140995904 MAGEC1 C>T	X	140995904	140995904	C	T	MAGEC1	c.2714C>T	NM_005462.4	NP_005453.2:p.(Thr905Ile)	NC_000023.10:g.140995904C>T	(Likely) benign	1 lab	fc130d6722
5:135397231 TGFBI C>T	5	135397231	135397231	C	T	TGFBI	c.1949C>T	NM_000358.2	NP_000349.1:p.(Ala650Val)	NC_000005.9:g.135397231C>T	VUS	1 lab	fc13d80d14
18:43532607 EPG5 A>C	18	43532607	43532607	A	C	EPG5	c.1011T>G	NM_020964.3	NP_066015.2:p.(Gly337=)	NC_000018.9:g.43532607A>C	(Likely) benign	1 lab	fc14d5becc
9:140669656 EHMT1 C>T	9	140669656	140669656	C	T	EHMT1	c.1743C>T	NM_024757.4	NP_079033.4:p.(Arg581=)	NC_000009.11:g.140669656C>T	(Likely) benign	1 lab	fc1527ec1f
8:38275514 FGFR1 C>T	8	38275514	38275514	C	T	FGFR1	c.1401-5G>A	NM_001174064.1	NP_001167535.1:p.?	NC_000008.10:g.38275514C>T	(Likely) benign	1 lab	fc15e12e65
16:23647229 PALB2 A>C	16	23647229	23647229	A	C	PALB2	c.638T>G	NM_024675.3	NP_078951.2:p.(Val213Gly)	NC_000016.9:g.23647229A>C	VUS	1 lab	fc169daf3f
1:183086694 LAMC1 G>A	1	183086694	183086694	G	A	LAMC1	c.1713G>A	NM_002293.3	NP_002284.3:p.(Leu571=)	NC_000001.10:g.183086694G>A	(Likely) benign	1 lab	fc177fb72d
X:49021421 MAGIX G>A	X	49021421	49021421	G	A	MAGIX	c.500G>A	NM_024859.3	NP_079135.3:p.(Arg167His)	NC_000023.10:g.49021421G>A	(Likely) benign	1 lab	fc1b13067b
9:91940829 SECISBP2 GA>G	9	91940829	91940836	GA	G	SECISBP2	c.457del	NM_024077.5	NP_076982.3:p.(Thr153ArgfsTer20)	NC_000009.11:g.91940836del	(Likely) pathogenic	1 lab	fc1e9e1d12
4:16010677 PROM1 C>T	4	16010677	16010677	C	T	PROM1	c.1169G>A	NM_001145847.1	NP_001139319.1:p.(Arg390His)	NC_000004.11:g.16010677C>T	(Likely) benign	1 lab	fc1ed654c7
4:9251597 USP17L18 C>A	4	9251597	9251597	C	A	USP17L18	c.1242C>A	NM_001256859.1	NP_001243788.1:p.(Cys414Ter)	NC_000004.11:g.9251597C>A	VUS	1 lab	fc200f6b8d
2:31590916 XDH A>T	2	31590916	31590916	A	T	XDH	c.2108T>A	NM_000379.3	NP_000370.2:p.(Ile703Lys)	NC_000002.11:g.31590916A>T	VUS	1 lab	fc2018d98e
12:65139436 GNS C>T	12	65139436	65139436	C	T	GNS	c.525+3G>A	NM_002076.3	NP_002067.1:p.?	NC_000012.11:g.65139436C>T	(Likely) benign	1 lab	fc212326bb
12:21008048 SLCO1B3 G>A	12	21008048	21008048	G	A	SLCO1B3	c.171G>A	NM_019844.3	NP_062818.1:p.(Arg57=)	NC_000012.11:g.21008048G>A	(Likely) benign	1 lab	fc225c3caa
12:53709162 AAAS C>T	12	53709162	53709162	C	T	AAAS	c.356G>A	NM_015665.5	NP_056480.1:p.(Arg119Gln)	NC_000012.11:g.53709162C>T	(Likely) benign	1 lab	fc22fe1ba2
2:201369585 KCTD18 G>A	2	201369585	201369585	G	A	KCTD18	c.258C>T	NM_152387.4	NP_689600.2:p.(Ile86=)	NC_000002.11:g.201369585G>A	(Likely) benign	1 lab	fc2303fdd2
6:33133770 COL11A2 G>C	6	33133770	33133770	G	C	COL11A2	c.4429-9C>G	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33133770G>C	(Likely) benign	1 lab	fc23b603b5
9:108118671 SLC44A1 T>C	9	108118671	108118671	T	C	SLC44A1	c.670+9T>C	NM_080546.5	NP_536856.2:p.?	NC_000009.11:g.108118671T>C	(Likely) benign	1 lab	fc23bd8353
20:10623135 JAG1 C>A	20	10623135	10623135	C	A	JAG1	c.2572+1G>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10623135C>A	(Likely) pathogenic	1 lab	fc2641f14b
3:148924125 CP G>A	3	148924125	148924125	G	A	CP	c.1038C>T	NM_000096.3	NP_000087.1:p.(Ala346=)	NC_000003.11:g.148924125G>A	(Likely) benign	1 lab	fc26bb4e65
15:48729206 FBN1 G>A	15	48729206	48729206	G	A	FBN1	c.6448C>T	NM_000138.4	NP_000129.3:p.(Arg2150Cys)	NC_000015.9:g.48729206G>A	(Likely) pathogenic	1 lab	fc26fbd1e4
16:2154560 PKD1 T>C	16	2154560	2154560	T	C	PKD1	c.8100A>G	NM_001009944.2	NP_001009944.2:p.(Ala2700=)	NC_000016.9:g.2154560T>C	(Likely) benign	1 lab	fc29477f54
X:50127721 DGKK G>A	X	50127721	50127721	G	A	DGKK	c.2449C>T	NM_001013742.3	NP_001013764.1:p.(Arg817Cys)	NC_000023.10:g.50127721G>A	(Likely) benign	1 lab	fc297aea33
17:36499087 GPR179 C>CA	17	36499087	36499088	C	CA	GPR179	c.585dup	NM_001004334.3	NP_001004334.3:p.(Ala196CysfsTer10)	NC_000017.10:g.36499088dup	(Likely) pathogenic	1 lab	fc29b8ca8a
5:73981361 HEXB C>T	5	73981361	73981361	C	T	HEXB	c.276C>T	NM_000521.3	NP_000512.1:p.(Thr92=)	NC_000005.9:g.73981361C>T	(Likely) benign	1 lab	fc29f2577e
20:35563451 SAMHD1 G>A	20	35563451	35563451	G	A	SAMHD1	c.490C>T	NM_001363729.1	NP_001350658.1:p.(Arg164Ter)	NC_000020.10:g.35563451G>A	(Likely) pathogenic	1 lab	fc2b2e4d95
4:1806119 FGFR3 G>C	4	1806119	1806119	G	C	FGFR3	c.1138G>C	NM_000142.4	NP_000133.1:p.(Gly380Arg)	NC_000004.11:g.1806119G>C	(Likely) pathogenic	1 lab	fc2ba4d8e6
2:1546234 TPO G>A	2	1546234	1546234	G	A	TPO	c.2790G>A	NM_000547.5	NP_000538.3:p.(Pro930=)	NC_000002.11:g.1546234G>A	(Likely) benign	1 lab	fc2bf7db19
8:119122463 EXT1 TCCCTG>GCCTT	8	119122463	119122468	TCCCTG	GCCTT	EXT1	c.818_823delinsAAGGC	NM_000127.2	NP_000118.2:p.(Thr273LysfsTer3)	NC_000008.10:g.119122463_119122468delinsGCCTT	(Likely) pathogenic	1 lab	fc2c793129
13:46065096 COG3 G>A	13	46065096	46065096	G	A	COG3	c.968+3G>A	NM_031431.4	NP_113619.3:p.?	NC_000013.10:g.46065096G>A	(Likely) benign	1 lab	fc2c93cfbe
3:52392579 DNAH1 A>G	3	52392579	52392579	A	G	DNAH1	c.4092A>G	NM_015512.4	NP_056327.4:p.(Leu1364=)	NC_000003.11:g.52392579A>G	(Likely) benign	1 lab	fc2d8a1426
5:140955851 DIAPH1 A>G	5	140955851	140955851	A	G	DIAPH1	c.1407T>C	NM_001314007.1	NP_001300936.1:p.(Ile469=)	NC_000005.9:g.140955851A>G	(Likely) benign	1 lab	fc2ef5c4c6
X:152818614 ATP2B3 G>A	X	152818614	152818614	G	A	ATP2B3	c.1945G>A	NM_021949.3	NP_068768.2:p.(Ala649Thr)	NC_000023.10:g.152818614G>A	VUS	1 lab	fc33195805
19:6309812 ACER1 A>G	19	6309812	6309812	A	G	ACER1	c.384T>C	NM_133492.2	NP_597999.1:p.(Thr128=)	NC_000019.9:g.6309812A>G	VUS	1 lab	fc3412b6df
5:23527721 PRDM9 C>A	5	23527721	23527721	C	A	PRDM9	c.2524C>A	NM_020227.3	NP_064612.2:p.(Arg842Ser)	NC_000005.9:g.23527721C>A	(Likely) benign	1 lab	fc343dd9d1
1:5933384 NPHP4 C>G	1	5933384	5933384	C	G	NPHP4	c.3243G>C	NM_015102.4	NP_055917.1:p.(Gly1081=)	NC_000001.10:g.5933384C>G	(Likely) benign	1 lab	fc34c97e5e
20:47580439 ARFGEF2 A>G	20	47580439	47580439	A	G	ARFGEF2	c.907+4A>G	NM_006420.2	NP_006411.2:p.?	NC_000020.10:g.47580439A>G	(Likely) benign	1 lab	fc36505a09
16:2105491 TSC2 C>A	16	2105491	2105491	C	A	TSC2	c.570C>A	NM_000548.3	NP_000539.2:p.(Tyr190Ter)	NC_000016.9:g.2105491C>A	(Likely) pathogenic	1 lab	fc36769031
19:36211277 KMT2B G>A	19	36211277	36211277	G	A	KMT2B	c.1028G>A	NM_014727.2	NP_055542.1:p.(Arg343Lys)	NC_000019.9:g.36211277G>A	(Likely) benign	1 lab	fc3895ec13
X:48673791 HDAC6 G>A	X	48673791	48673791	G	A	HDAC6	c.1150G>A	NM_001321226.1	NP_001308155.1:p.(Gly384Ser)	NC_000023.10:g.48673791G>A	VUS	1 lab	fc38d2dfc1
15:48757891 FBN1 C>T	15	48757891	48757891	C	T	FBN1	c.4817-1G>A	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48757891C>T	(Likely) pathogenic	1 lab	fc39351198
7:128413783 OPN1SW G>C	7	128413783	128413783	G	C	OPN1SW	c.847C>G	NM_001708.2	NP_001699.1:p.(Arg283Gly)	NC_000007.13:g.128413783G>C	VUS	1 lab	fc3a8e7b96
21:47705064 MCM3AP G>A	21	47705064	47705064	G	A	MCM3AP	c.137C>T	NM_003906.4	NP_003897.2:p.(Ser46Phe)	NC_000021.8:g.47705064G>A	(Likely) benign	1 lab	fc3eb36dd5
16:27752021 KATNIP C>T	16	27752021	27752021	C	T	KATNIP	c.2403C>T	NM_015202.3	NP_056017.3:p.(Thr801=)	NC_000016.9:g.27752021C>T	(Likely) benign	1 lab	fc4085e88e
18:19395774 MIB1 G>C	18	19395774	19395774	G	C	MIB1	c.1677G>C	NM_020774.3	NP_065825.1:p.(Gln559His)	NC_000018.9:g.19395774G>C	VUS	1 lab	fc41a7f4e5
16:2810315 SRRM2 G>A	16	2810315	2810315	G	A	SRRM2	c.847G>A	NM_016333.4	NP_057417.3:p.(Ala283Thr)	NC_000016.9:g.2810315G>A	VUS	1 lab	fc41c9dba4
5:7873564 MTRR C>T	5	7873564	7873564	C	T	MTRR	c.208C>T	NM_024010.3	NP_076915.3:p.(Arg70Cys)	NC_000005.9:g.7873564C>T	(Likely) benign	1 lab	fc42c92159
14:39543630 SEC23A G>A	14	39543630	39543630	G	A	SEC23A	c.1092C>T	NM_006364.3	NP_006355.2:p.(Pro364=)	NC_000014.8:g.39543630G>A	(Likely) benign	1 lab	fc42f033fb
19:56538665 NLRP5 A>G	19	56538665	56538665	A	G	NLRP5	c.1066A>G	NM_153447.4	NP_703148.4:p.(Arg356Gly)	NC_000019.9:g.56538665A>G	VUS	1 lab	fc43619288
19:38643589 SIPA1L3 A>G	19	38643589	38643589	A	G	SIPA1L3	c.3643A>G	NM_015073.2	NP_055888.1:p.(Met1215Val)	NC_000019.9:g.38643589A>G	VUS	1 lab	fc43a2e71f
7:73084369 VPS37D G>C	7	73084369	73084369	G	C	VPS37D	c.330G>C	NM_001077621.2	NP_001071089.1:p.(Trp110Cys)	NC_000007.13:g.73084369G>C	VUS	1 lab	fc45a6a36d
8:11615963 GATA4 C>T	8	11615963	11615963	C	T	GATA4	c.1308C>T	NM_002052.4	NP_002043.2:p.(His436=)	NC_000008.10:g.11615963C>T	(Likely) benign	1 lab	fc4638818d
16:2106194 TSC2 C>A	16	2106194	2106194	C	A	TSC2	c.600-3C>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106194C>A	(Likely) pathogenic	1 lab	fc47adf42e
10:126097462 OAT C>T	10	126097462	126097462	C	T	OAT	c.272G>A	NM_001322966.1	NP_001309895.1:p.(Gly91Glu)	NC_000010.10:g.126097462C>T	VUS	1 lab	fc4838ccfa
19:48342875 CRX C>T	19	48342875	48342875	C	T	CRX	c.551C>T	NM_000554.5	NP_000545.1:p.(Pro184Leu)	NC_000019.9:g.48342875C>T	VUS	1 lab	fc492a64f1
17:26107900 NOS2 G>A	17	26107900	26107900	G	A	NOS2	c.897C>T	NM_000625.4	NP_000616.3:p.(Tyr299=)	NC_000017.10:g.26107900G>A	(Likely) benign	1 lab	fc4b6a8408
9:137630339 COL5A1 C>T	9	137630339	137630339	C	T	COL5A1	c.1409C>T	NM_000093.4	NP_000084.3:p.(Pro470Leu)	NC_000009.11:g.137630339C>T	VUS	1 lab	fc4badbfb0
9:139908280 ABCA2 C>T	9	139908280	139908280	C	T	ABCA2	c.4537+4G>A	NM_212533.2	NP_997698.1:p.?	NC_000009.11:g.139908280C>T	(Likely) benign	1 lab	fc4d3ba955
1:227174370 COQ8A C>T	1	227174370	227174370	C	T	COQ8A	c.1876C>T	NM_020247.4	NP_064632.2:p.(Arg626Cys)	NC_000001.10:g.227174370C>T	(Likely) benign	1 lab	fc4da21d40
9:71679858 FXN G>T	9	71679858	71679858	G	T	FXN	c.389G>T	NM_000144.4	NP_000135.2:p.(Gly130Val)	NC_000009.11:g.71679858G>T	(Likely) pathogenic	1 lab	fc4eaefe78
5:90368287 ADGRV1 C>T	5	90368287	90368287	C	T	ADGRV1	c.18176C>T	NM_032119.4	NP_115495.3:p.(Ala6059Val)	NC_000005.9:g.90368287C>T	VUS	1 lab	fc5143500f
7:94043557 COL1A2 C>T	7	94043557	94043557	C	T	COL1A2	c.1689C>T	NM_000089.3	NP_000080.2:p.(Pro563=)	NC_000007.13:g.94043557C>T	(Likely) benign	1 lab	fc5587fd14
17:29684053 NF1 T>A	17	29684053	29684053	T	A	NF1	c.7751T>A	NM_000267.3	NP_000258.1:p.(Leu2584Ter)	NC_000017.10:g.29684053T>A	(Likely) pathogenic	1 lab	fc559f94f7
20:31380459 DNMT3B T>A	20	31380459	31380459	T	A	DNMT3B	c.949T>A	NM_006892.3	NP_008823.1:p.(Phe317Ile)	NC_000020.10:g.31380459T>A	VUS	1 lab	fc572fe05a
3:27760080 EOMES A>G	3	27760080	27760080	A	G	EOMES	c.1377T>C	NM_001278182.1	NP_001265111.1:p.(Asp459=)	NC_000003.11:g.27760080A>G	(Likely) benign	1 lab	fc5766c1cb
X:71425398 ERCC6L C>A	X	71425398	71425398	C	A	ERCC6L	c.3219G>T	NM_017669.4	NP_060139.2:p.(Arg1073Ser)	NC_000023.10:g.71425398C>A	(Likely) benign	1 lab	fc5e5e2a6a
15:45898654 BLOC1S6 G>A	15	45898654	45898654	G	A	BLOC1S6	c.461G>A	NM_012388.3	NP_036520.1:p.(Arg154Gln)	NC_000015.9:g.45898654G>A	VUS	1 lab	fc5e639ee2
20:62309673 RTEL1 C>T	20	62309673	62309673	C	T	RTEL1	c.1011C>T	NM_001283009.1	NP_001269938.1:p.(Asp337=)	NC_000020.10:g.62309673C>T	(Likely) benign	1 lab	fc5f08f11e
X:21675527 KLHL34 G>C	X	21675527	21675527	G	C	KLHL34	c.380C>G	NM_153270.2	NP_695002.1:p.(Ala127Gly)	NC_000023.10:g.21675527G>C	(Likely) benign	1 lab	fc5f6ac812
X:153173413 ARHGAP4 C>T	X	153173413	153173413	C	T	ARHGAP4	c.2731G>A	NM_001164741.1	NP_001158213.1:p.(Val911Met)	NC_000023.10:g.153173413C>T	VUS	1 lab	fc6703684c
10:21845661 MLLT10 C>A	10	21845661	21845661	C	A	MLLT10	c.330C>A	NM_001195630.1	NP_001182559.1:p.(Pro110=)	NC_000010.10:g.21845661C>A	(Likely) benign	1 lab	fc677d8045
9:123298652 CDK5RAP2 G>T	9	123298652	123298652	G	T	CDK5RAP2	c.660C>A	NM_018249.5	NP_060719.4:p.(Asp220Glu)	NC_000009.11:g.123298652G>T	VUS	1 lab	fc6af27052
22:50515306 MLC1 T>G	22	50515306	50515306	T	G	MLC1	c.561A>C	NM_015166.3	NP_055981.1:p.(Glu187Asp)	NC_000022.10:g.50515306T>G	VUS	1 lab	fc6b287dd6
2:179547500 TTN T>C	2	179547500	179547500	T	C	TTN	c.33018A>G	NM_001267550.1	NP_001254479.1:p.(Thr11006=)	NC_000002.11:g.179547500T>C	(Likely) benign	1 lab	fc6c3a2352
9:131085138 COQ4 A>G	9	131085138	131085138	A	G	COQ4	c.1A>G	NM_016035.4	NP_057119.2:p.(Met1?)	NC_000009.11:g.131085138A>G	VUS	1 lab	fc6fb6ff04
17:78178974 CARD14 C>T	17	78178974	78178974	C	T	CARD14	c.2539C>T	NM_024110.4	NP_077015.2:p.(Leu847Phe)	NC_000017.10:g.78178974C>T	(Likely) benign	1 lab	fc7231f056
20:363209 TRIB3 C>T	20	363209	363209	C	T	TRIB3	c.20C>T	NM_001301201.1	NP_001288130.1:p.(Ala7Val)	NC_000020.10:g.363209C>T	(Likely) benign	1 lab	fc726e4cf8
22:21902105 RIMBP3C A>G	22	21902105	21902105	A	G	RIMBP3C	c.3161T>C	NM_001128633.1	NP_001122105.1:p.(Val1054Ala)	NC_000022.10:g.21902105A>G	(Likely) benign	1 lab	fc7352a327
10:123846625 TACC2 C>T	10	123846625	123846625	C	T	TACC2	c.4610C>T	NM_206862.3	NP_996744.3:p.(Ala1537Val)	NC_000010.10:g.123846625C>T	VUS	1 lab	fc73c76f4e
10:51769186 AGAP6 G>A	10	51769186	51769186	G	A	AGAP6	c.1301G>A	NM_001077665.2	NP_001071133.2:p.(Trp434Ter)	NC_000010.10:g.51769186G>A	VUS	1 lab	fc73cc6fe8
12:102182228 GNPTAB AAC>A	12	102182228	102182233	AAC	A	GNPTAB	c.365+96_365+97del	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102182232_102182233del	(Likely) benign	1 lab	fc76831996
4:55156496 PDGFRA A>G	4	55156496	55156496	A	G	PDGFRA	c.2897A>G	NM_006206.4	NP_006197.1:p.(His966Arg)	NC_000004.11:g.55156496A>G	VUS	1 lab	fc76b7882a
15:42103101 MAPKBP1 A>G	15	42103101	42103101	A	G	MAPKBP1	c.227A>G	NM_001128608.1	NP_001122080.1:p.(Asn76Ser)	NC_000015.9:g.42103101A>G	VUS	1 lab	fc785842d8
19:40719553 MAP3K10 C>T	19	40719553	40719553	C	T	MAP3K10	c.1967C>T	NM_002446.4	NP_002437.2:p.(Pro656Leu)	NC_000019.9:g.40719553C>T	(Likely) benign	1 lab	fc7acefe3d
2:43451730 ZFP36L2 G>A	2	43451730	43451730	G	A	ZFP36L2	c.1213C>T	NM_006887.5	NP_008818.3:p.(Pro405Ser)	NC_000002.11:g.43451730G>A	(Likely) benign	1 lab	fc7adbe328
11:61165270 TMEM216 G>A	11	61165270	61165270	G	A	TMEM216	c.71G>A	NM_001330285.1	NP_001317214.1:p.(Arg24Gln)	NC_000011.9:g.61165270G>A	VUS	1 lab	fc7c359e6a
12:116445450 MED13L C>CAA	12	116445450	116445470	C	CAA	MED13L	c.2013-11_2013-10dup	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445469_116445470dup	(Likely) benign	1 lab	fc7cd4f9df
19:19337308 NCAN G>T	19	19337308	19337308	G	T	NCAN	c.1086G>T	NM_004386.3	NP_004377.2:p.(Thr362=)	NC_000019.9:g.19337308G>T	(Likely) benign	1 lab	fc7f3dda37
22:51063725 ARSA G>C	22	51063725	51063725	G	C	ARSA	c.1378C>G	NM_000487.5	NP_000478.3:p.(Gln460Glu)	NC_000022.10:g.51063725G>C	(Likely) benign	1 lab	fc810b770f
9:135205481 SETX G>A	9	135205481	135205481	G	A	SETX	c.1504C>T	NM_015046.5	NP_055861.3:p.(Arg502Trp)	NC_000009.11:g.135205481G>A	VUS	1 lab	fc8180ee27
3:170204128 SLC7A14 G>A	3	170204128	170204128	G	A	SLC7A14	c.789C>T	NM_020949.2	NP_066000.2:p.(Tyr263=)	NC_000003.11:g.170204128G>A	(Likely) benign	1 lab	fc829b9357
9:32984806 APTX G>A	9	32984806	32984806	G	A	APTX	c.593C>T	NM_175073.2	NP_778243.1:p.(Ala198Val)	NC_000009.11:g.32984806G>A	(Likely) pathogenic	1 lab	fc8383158d
1:228554731 OBSCN G>A	1	228554731	228554731	G	A	OBSCN	c.22354G>A	NM_001271223.2	NP_001258152.2:p.(Ala7452Thr)	NC_000001.10:g.228554731G>A	(Likely) benign	1 lab	fc85a4653d
17:73835961 UNC13D G>A	17	73835961	73835961	G	A	UNC13D	c.1014C>T	NM_199242.2	NP_954712.1:p.(His338=)	NC_000017.10:g.73835961G>A	(Likely) benign	1 lab	fc86c3b82f
15:42137121 JMJD7-PLA2G4B C>G	15	42137121	42137121	C	G	JMJD7-PLA2G4B	c.1785C>G	NM_005090.3	NP_005081.1:p.(Thr595=)	NC_000015.9:g.42137121C>G	(Likely) benign	1 lab	fc87bfb0df
7:21628242 DNAH11 C>G	7	21628242	21628242	C	G	DNAH11				NC_000007.13:g.21628242C>G	(Likely) benign	1 lab	fc8846e330
3:195594068 TNK2 C>T	3	195594068	195594068	C	T	TNK2	c.2954G>A	NM_005781.4	NP_005772.3:p.(Ser985Asn)	NC_000003.11:g.195594068C>T	(Likely) benign	1 lab	fc88e2751d
15:32887488 GOLGA8N A>T	15	32887488	32887488	A	T	GOLGA8N	c.68A>T	NM_001282494.1	NP_001269423.1:p.(Lys23Ile)	NC_000015.9:g.32887488A>T	VUS	1 lab	fc89262468
18:67721373 RTTN C>T	18	67721373	67721373	C	T	RTTN	c.5179G>A	NM_173630.3	NP_775901.3:p.(Val1727Ile)	NC_000018.9:g.67721373C>T	(Likely) benign	1 lab	fc8a03d280
15:90171984 KIF7 C>G	15	90171984	90171984	C	G	KIF7	c.3698G>C	NM_198525.2	NP_940927.2:p.(Arg1233Thr)	NC_000015.9:g.90171984C>G	VUS	1 lab	fc8b96aec5
X:64743967 LAS1L G>A	X	64743967	64743967	G	A	LAS1L	c.1269C>T	NM_031206.4	NP_112483.1:p.(Thr423=)	NC_000023.10:g.64743967G>A	(Likely) benign	1 lab	fc8c496880
7:148504768 EZH2 G>A	7	148504768	148504768	G	A	EZH2	c.2226C>T	NM_004456.4	NP_004447.2:p.(Val742=)	NC_000007.13:g.148504768G>A	(Likely) benign	1 lab	fc8c950164
15:90188304 KIF7 G>A	15	90188304	90188304	G	A	KIF7	c.2131C>T	NM_198525.2	NP_940927.2:p.(Arg711Trp)	NC_000015.9:g.90188304G>A	VUS	1 lab	fc8db5e273
6:2959446 SERPINB6 C>T	6	2959446	2959446	C	T	SERPINB6	c.121G>A	NM_001297699.1	NP_001284628.1:p.(Val41Ile)	NC_000006.11:g.2959446C>T	VUS	1 lab	fc8f31f025
12:57115172 NACA G>A	12	57115172	57115172	G	A	NACA	c.142C>T	NM_001113203.2	NP_001106674.2:p.(Pro48Ser)	NC_000012.11:g.57115172G>A	(Likely) benign	1 lab	fc8f7e81f2
8:28573676 EXTL3 T>G	8	28573676	28573676	T	G	EXTL3	c.100T>G	NM_001440.3	NP_001431.1:p.(Phe34Val)	NC_000008.10:g.28573676T>G	(Likely) benign	1 lab	fc8fa38dc3
X:47445950 TIMP1 C>G	X	47445950	47445950	C	G	TIMP1	c.484C>G	NM_003254.2	NP_003245.1:p.(Leu162Val)	NC_000023.10:g.47445950C>G	(Likely) benign	1 lab	fc9dcfe2f3
16:51185039 SALL1 CGT>C	16	51185039	51185051	CGT	C	SALL1	c.76+36_76+37del	NM_002968.3	NP_002959.2:p.?	NC_000016.9:g.51185050_51185051del	(Likely) benign	1 lab	fc92b7a8e4
6:13307903 TBC1D7 C>T	6	13307903	13307903	C	T	TBC1D7	c.594G>A	NM_016495.5	NP_057579.1:p.(Ala198=)	NC_000006.11:g.13307903C>T	(Likely) benign	1 lab	fc92bf9846
16:731845 STUB1 G>A	16	731845	731845	G	A	STUB1	c.361G>A	NM_001293197.1	NP_001280126.1:p.(Val121Ile)	NC_000016.9:g.731845G>A	(Likely) benign	1 lab	fc9426fba7
5:40959611 C7 AAAC>A	5	40959611	40959616	AAAC	A	C7	c.1553_1555del	NM_000587.4	NP_000578.2:p.(Thr518del)	NC_000005.9:g.40959614_40959616del	VUS	1 lab	fc955d7c74
17:8137863 CTC1 C>A	17	8137863	8137863	C	A	CTC1	c.1728G>T	NM_025099.6	NP_079375.3:p.(Pro576=)	NC_000017.10:g.8137863C>A	(Likely) benign	1 lab	fc9561e1d9
12:88443080 CEP290 A>C	12	88443080	88443080	A	C	CEP290	c.7321T>G	NM_025114.3	NP_079390.3:p.(Leu2441Val)	NC_000012.11:g.88443080A>C	VUS	1 lab	fc956f7dad
19:12858358 GET3 C>G	19	12858358	12858358	C	G	GET3	c.867C>G	NM_004317.3	NP_004308.2:p.(Cys289Trp)	NC_000019.9:g.12858358C>G	VUS	1 lab	fc9777b75f
17:6331798 AIPL1 C>T	17	6331798	6331798	C	T	AIPL1	c.305G>A	NM_014336.4	NP_055151.3:p.(Arg102Gln)	NC_000017.10:g.6331798C>T	VUS	1 lab	fc9863cd4b
17:62049215 SCN4A G>C	17	62049215	62049215	G	C	SCN4A	c.483-5C>G	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62049215G>C	VUS	1 lab	fc99d979fa
8:145737340 RECQL4 G>A	8	145737340	145737340	G	A	RECQL4	c.3347C>T	NM_004260.3	NP_004251.3:p.(Pro1116Leu)	NC_000008.10:g.145737340G>A	VUS	1 lab	fc9a3846f2
17:29553475 NF1 GA>G	17	29553475	29553477	GA	G	NF1	c.2026del	NM_001042492.3	NP_001035957.1:p.(Thr676ProfsTer12)	NC_000017.10:g.29553477del	(Likely) pathogenic	1 lab	fc9a736f40
22:29736816 AP1B1 G>C	22	29736816	29736816	G	C	AP1B1	c.1827C>G	NM_001127.3	NP_001118.3:p.(Ala609=)	NC_000022.10:g.29736816G>C	(Likely) benign	1 lab	fc9ac50109
7:6837995 RSPH10B2 C>A	7	6837995	6837995	C	A	RSPH10B2	c.2434C>A	NM_001099697.1	NP_001093167.1:p.(Leu812Met)	NC_000007.13:g.6837995C>A	(Likely) benign	1 lab	fc9cc3b1ad
17:41246590 BRCA1 T>G	17	41246590	41246590	T	G	BRCA1	c.958A>C	NM_007294.3	NP_009225.1:p.(Arg320=)	NC_000017.10:g.41246590T>G	(Likely) benign	1 lab	fc9f451ed8
20:50408753 SALL4 T>C	20	50408753	50408753	T	C	SALL4	c.269A>G	NM_001318031.1	NP_001304960.1:p.(His90Arg)	NC_000020.10:g.50408753T>C	VUS	1 lab	fca1a60f3f
6:7568022 DSP A>G	6	7568022	7568022	A	G	DSP	c.1149A>G	NM_004415.2	NP_004406.2:p.(Glu383=)	NC_000006.11:g.7568022A>G	(Likely) benign	1 lab	fca2412d09
5:168114030 SLIT3 C>T	5	168114030	168114030	C	T	SLIT3	c.3289G>A	NM_001271946.1	NP_001258875.1:p.(Val1097Met)	NC_000005.9:g.168114030C>T	(Likely) benign	1 lab	fca319785c
11:68192589 LRP5 A>G	11	68192589	68192589	A	G	LRP5	c.1513A>G	NM_001291902.1	NP_001278831.1:p.(Met505Val)	NC_000011.9:g.68192589A>G	VUS	1 lab	fca31fecd4
X:138864841 ATP11C T>A	X	138864841	138864841	T	A	ATP11C	c.1817A>T	NM_001353812.1	NP_001340741.1:p.(Asp606Val)	NC_000023.10:g.138864841T>A	(Likely) benign	1 lab	fca34ca706
20:49576326 MOCS3 G>A	20	49576326	49576326	G	A	MOCS3	c.947G>A	NM_014484.4	NP_055299.1:p.(Cys316Tyr)	NC_000020.10:g.49576326G>A	VUS	1 lab	fca37849d0
11:64360998 SLC22A12 G>A	11	64360998	64360998	G	A	SLC22A12	c.628G>A	NM_144585.3	NP_653186.2:p.(Val210Met)	NC_000011.9:g.64360998G>A	(Likely) benign	1 lab	fca42a2292
14:21788222 RPGRIP1 GC>G	14	21788222	21788223	GC	G	RPGRIP1	c.1354del	NM_020366.4	NP_065099.3:p.(His452IlefsTer5)	NC_000014.8:g.21788223del	(Likely) pathogenic	1 lab	fca491f14f
11:9080951 SCUBE2 C>T	11	9080951	9080951	C	T	SCUBE2	c.989G>A	NM_001330199.1	NP_001317128.1:p.(Arg330His)	NC_000011.9:g.9080951C>T	(Likely) benign	1 lab	fca6971043
10:81466121 NUTM2B G>A	10	81466121	81466121	G	A	NUTM2B	c.706G>A	NM_001278495.1	NP_001265424.1:p.(Ala236Thr)	NC_000010.10:g.81466121G>A	VUS	1 lab	fca83e8e31
20:33584141 MYH7B T>C	20	33584141	33584141	T	C	MYH7B	c.3070-8T>C	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33584141T>C	(Likely) benign	1 lab	fca8beb5d5
X:103042754 PLP1 G>A	X	103042754	103042754	G	A	PLP1	c.481G>A	NM_001128834.2	NP_001122306.1:p.(Val161Ile)	NC_000023.10:g.103042754G>A	(Likely) benign	1 lab	fcacadc498
12:125460048 DHX37 G>A	12	125460048	125460048	G	A	DHX37	c.897C>T	NM_032656.4	NP_116045.2:p.(Ser299=)	NC_000012.11:g.125460048G>A	(Likely) benign	1 lab	fcb27690a9
17:7462399 TNFSF13 C>T	17	7462399	7462399	C	T	TNFSF13	c.43C>T	NM_003808.3	NP_003799.1:p.(Pro15Ser)	NC_000017.10:g.7462399C>T	(Likely) benign	1 lab	fcb431fee4
2:179621488 TTN A>G	2	179621488	179621488	A	G	TTN	c.10715T>C	NM_001267550.1	NP_001254479.1:p.(Val3572Ala)	NC_000002.11:g.179621488A>G	VUS	1 lab	fcb4793a4a
12:111080154 TCTN1 G>C	12	111080154	111080154	G	C	TCTN1	c.1291G>C	NM_001082538.2	NP_001076007.1:p.(Val431Leu)	NC_000012.11:g.111080154G>C	VUS	1 lab	fcb50407b3
13:31903679 B3GLCT A>G	13	31903679	31903679	A	G	B3GLCT	c.1371A>G	NM_194318.3	NP_919299.3:p.(Gln457=)	NC_000013.10:g.31903679A>G	(Likely) benign	1 lab	fcb52e9263
X:70510559 NONO C>CCAG	X	70510559	70510570	C	CCAG	NONO	c.81_83dup	NM_001145408.1	NP_001138880.1:p.(Gln27dup)	NC_000023.10:g.70510568_70510570dup	VUS	1 lab	fcb82d4329
17:36708985 SRCIN1 C>T	17	36708985	36708985	C	T	SRCIN1	c.2308G>A	NM_025248.3	NP_079524.2:p.(Gly770Arg)	NC_000017.10:g.36708985C>T	VUS	1 lab	fcbe16825a
19:17954255 JAK3 G>A	19	17954255	17954255	G	A	JAK3	c.354C>T	NM_000215.3	NP_000206.2:p.(Phe118=)	NC_000019.9:g.17954255G>A	(Likely) benign	1 lab	fcbfe2f8a5
19:43762533 PSG9 A>G	19	43762533	43762533	A	G	PSG9	c.1064T>C	NM_002784.5	NP_002775.3:p.(Phe355Ser)	NC_000019.9:g.43762533A>G	(Likely) benign	1 lab	fcc0e18bf4
X:100645527 BTK C>CA	X	100645527	100645529	C	CA	BTK	c.10dup	NM_001287344.1	NP_001274273.1:p.(Trp4LeufsTer25)	NC_000023.10:g.100645529dup	VUS	1 lab	fcc3c53320
22:35719065 TOM1 G>A	22	35719065	35719065	G	A	TOM1	c.261G>A	NM_001135732.1	NP_001129204.1:p.(Val87=)	NC_000022.10:g.35719065G>A	(Likely) benign	1 lab	fcc514fb3f
15:43892862 STRC G>C	15	43892862	43892862	G	C	STRC	c.4863C>G	NM_153700.2	NP_714544.1:p.(Leu1621=)	NC_000015.9:g.43892862G>C	(Likely) benign	1 lab	fcc5ac2b95
19:15271770 NOTCH3 C>A	19	15271770	15271770	C	A	NOTCH3	c.6669G>T	NM_000435.2	NP_000426.2:p.(Ala2223=)	NC_000019.9:g.15271770C>A	(Likely) benign	1 lab	fcc5e08e16
17:76490695 DNAH17 G>A	17	76490695	76490695	G	A	DNAH17	c.6250C>T	NM_173628.3	NP_775899.3:p.(Arg2084Trp)	NC_000017.10:g.76490695G>A	VUS	1 lab	fcc6740eea
X:24024434 KLHL15 G>C	X	24024434	24024434	G	C	KLHL15	c.377C>G	NM_030624.2	NP_085127.2:p.(Ala126Gly)	NC_000023.10:g.24024434G>C	VUS	1 lab	fcc68d375a
2:130939170 SMPD4 G>C	2	130939170	130939170	G	C	SMPD4	c.5C>G	NM_017951.4	NP_060421.2:p.(Thr2Arg)	NC_000002.11:g.130939170G>C	VUS	1 lab	fcc6c95fab
22:36678722 MYH9 C>T	22	36678722	36678722	C	T	MYH9	c.5875G>A	NM_002473.5	NP_002464.1:p.(Ala1959Thr)	NC_000022.10:g.36678722C>T	(Likely) benign	1 lab	fcc7817e22
X:154134769 F8 A>G	X	154134769	154134769	A	G	F8	c.5299T>C	NM_000132.3	NP_000123.1:p.(Tyr1767His)	NC_000023.10:g.154134769A>G	(Likely) benign	1 lab	fcc7cdd68e
19:50165750 IRF3 T>C	19	50165750	50165750	T	C	IRF3	c.428A>G	NM_001197123.1	NP_001184052.1:p.(Asn143Ser)	NC_000019.9:g.50165750T>C	(Likely) benign	1 lab	fcc8b5c048
18:47792762 CFAP53 G>A	18	47792762	47792762	G	A	CFAP53	c.13C>T	NM_145020.4	NP_659457.2:p.(Arg5Trp)	NC_000018.9:g.47792762G>A	VUS	1 lab	fcc91765cf
11:78600879 TENM4 G>A	11	78600879	78600879	G	A	TENM4	c.1035C>T	NM_001098816.2	NP_001092286.2:p.(Ser345=)	NC_000011.9:g.78600879G>A	(Likely) benign	1 lab	fcc94e5ab8
X:7171247 STS A>T	X	7171247	7171247	A	T	STS	c.43A>T	NM_001320750.1	NP_001307679.1:p.(Ile15Phe)	NC_000023.10:g.7171247A>T	(Likely) benign	1 lab	fcc966ad99
17:78073553 CCDC40 C>G	17	78073553	78073553	C	G	CCDC40	c.3408C>G	NM_017950.3	NP_060420.2:p.(Leu1136=)	NC_000017.10:g.78073553C>G	(Likely) benign	1 lab	fcca1112e9
X:77243762 ATP7A A>G	X	77243762	77243762	A	G	ATP7A	c.145A>G	NM_000052.6	NP_000043.4:p.(Thr49Ala)	NC_000023.10:g.77243762A>G	(Likely) benign	1 lab	fccbd5d7a7
X:148631195 HSFX3 C>G	X	148631195	148631195	C	G	HSFX3	c.203G>C	NM_001323079.1	NP_001310008.1:p.(Arg68Pro)	NC_000023.10:g.148631195C>G	(Likely) benign	1 lab	fccc0bf81c
8:6299654 MCPH1 T>C	8	6299654	6299654	T	C	MCPH1	c.647T>C	NM_024596.4	NP_078872.2:p.(Ile216Thr)	NC_000008.10:g.6299654T>C	(Likely) benign	1 lab	fccc363f38
X:23802007 SAT1 C>T	X	23802007	23802007	C	T	SAT1	c.202+7C>T	NM_002970.3	NP_002961.1:p.?	NC_000023.10:g.23802007C>T	(Likely) benign	1 lab	fccd028994
1:39763365 MACF1 G>T	1	39763365	39763365	G	T	MACF1	c.2444G>T	NM_012090.5	NP_036222.3:p.(Cys815Phe)	NC_000001.10:g.39763365G>T	(Likely) benign	1 lab	fccd7e61b6
11:1260744 MUC5B A>AGCGC	11	1260744	1260745	A	AGCGC	MUC5B	c.3531_3532insGCGC	NM_002458.2	NP_002449.2:p.(Thr1178AlafsTer33)	NC_000011.9:g.1260744_1260745insGCGC	(Likely) benign	1 lab	fccdef446b
11:688052 DEAF1 G>C	11	688052	688052	G	C	DEAF1	c.523C>G	NM_021008.3	NP_066288.2:p.(Gln175Glu)	NC_000011.9:g.688052G>C	VUS	1 lab	fcce1eb56c
7:141478730 TAS2R4 A>G	7	141478730	141478730	A	G	TAS2R4	c.442A>G	NM_016944.1	NP_058640.1:p.(Ile148Val)	NC_000007.13:g.141478730A>G	(Likely) benign	1 lab	fcce98205e
7:146829372 CNTNAP2 G>A	7	146829372	146829372	G	A	CNTNAP2	c.1119G>A	NM_014141.5	NP_054860.1:p.(Thr373=)	NC_000007.13:g.146829372G>A	(Likely) benign	1 lab	fccf51b9a3
4:187532834 FAT1 A>G	4	187532834	187532834	A	G	FAT1	c.9559T>C	NM_005245.3	NP_005236.2:p.(Leu3187=)	NC_000004.11:g.187532834A>G	(Likely) benign	1 lab	fcd04f8be6
13:111114487 COL4A2 C>T	13	111114487	111114487	C	T	COL4A2	c.1623C>T	NM_001846.3	NP_001837.2:p.(Pro541=)	NC_000013.10:g.111114487C>T	(Likely) benign	1 lab	fcd08eddb9
15:89758455 RLBP1 G>A	15	89758455	89758455	G	A	RLBP1	c.361C>T	NM_000326.4	NP_000317.1:p.(Arg121Trp)	NC_000015.9:g.89758455G>A	VUS	1 lab	fcd100500a
3:14183277 TMEM43 A>G	3	14183277	14183277	A	G	TMEM43	c.1185A>G	NM_024334.2	NP_077310.1:p.(Pro395=)	NC_000003.11:g.14183277A>G	(Likely) benign	1 lab	fcd3873266
16:81914541 PLCG2 G>A	16	81914541	81914541	G	A	PLCG2	c.675G>A	NM_002661.3	NP_002652.2:p.(Ser225=)	NC_000016.9:g.81914541G>A	(Likely) benign	1 lab	fcd413942f
8:55539490 RP1 T>C	8	55539490	55539490	T	C	RP1	c.3048T>C	NM_006269.1	NP_006260.1:p.(Tyr1016=)	NC_000008.10:g.55539490T>C	(Likely) benign	1 lab	fcd4785f8c
17:8809025 PIK3R5 G>A	17	8809025	8809025	G	A	PIK3R5	c.234C>T	NM_014308.3	NP_055123.2:p.(Leu78=)	NC_000017.10:g.8809025G>A	(Likely) benign	1 lab	fcd53a8102
6:144838090 UTRN A>T	6	144838090	144838090	A	T	UTRN	c.5541+6A>T	NM_007124.2	NP_009055.2:p.?	NC_000006.11:g.144838090A>T	(Likely) benign	1 lab	fcd739914a
7:150812573 AGAP3 C>T	7	150812573	150812573	C	T	AGAP3	c.716C>T	NM_001308305.1	NP_001295234.1:p.(Ala239Val)	NC_000007.13:g.150812573C>T	(Likely) benign	1 lab	fcd7bfd1c2
X:47919023 ZNF630 TC>T	X	47919023	47919026	TC	T	ZNF630	c.807del	NM_001282201.2	NP_001269130.1:p.(Ala271ProfsTer92)	NC_000023.10:g.47919026del	VUS	1 lab	fcd7d318f3
19:41594557 CYP2A13 G>A	19	41594557	41594557	G	A	CYP2A13	c.180+1G>A	NM_000766.4	NP_000757.2:p.?	NC_000019.9:g.41594557G>A	VUS	1 lab	fcd81cd187
2:74596424 DCTN1 T>C	2	74596424	74596424	T	C	DCTN1	c.1584+3A>G	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74596424T>C	VUS	1 lab	fcd84bcf2b
2:85589366 ELMOD3 G>A	2	85589366	85589366	G	A	ELMOD3	c.112G>A	NM_001329791.1	NP_001316720.1:p.(Ala38Thr)	NC_000002.11:g.85589366G>A	VUS	1 lab	fcd9886d39
X:73641523 SLC16A2 G>C	X	73641523	73641523	G	C	SLC16A2	c.51G>C	NM_006517.4	NP_006508.2:p.(Glu17Asp)	NC_000023.10:g.73641523G>C	(Likely) benign	1 lab	fcdab221cb
8:30922527 WRN T>A	8	30922527	30922527	T	A	WRN	c.452T>A	NM_000553.4	NP_000544.2:p.(Phe151Tyr)	NC_000008.10:g.30922527T>A	(Likely) benign	1 lab	fcdb1d575b
2:178634082 PDE11A G>A	2	178634082	178634082	G	A	PDE11A	c.1757C>T	NM_016953.4	NP_058649.3:p.(Thr586Ile)	NC_000002.11:g.178634082G>A	(Likely) benign	1 lab	fcdd16dad4
3:129238472 IFT122 G>A	3	129238472	129238472	G	A	IFT122	c.3686G>A	NM_052985.3	NP_443711.2:p.(Arg1229His)	NC_000003.11:g.129238472G>A	VUS	1 lab	fcdf1c73af
11:44296945 ALX4 G>A	11	44296945	44296945	G	A	ALX4	c.730C>T	NM_021926.4	NP_068745.2:p.(Arg244Trp)	NC_000011.9:g.44296945G>A	(Likely) pathogenic	1 lab	fcdf77a72d
18:34340640 FHOD3 G>A	18	34340640	34340640	G	A	FHOD3	c.4519G>A	NM_001281740.2	NP_001268669.1:p.(Ala1507Thr)	NC_000018.9:g.34340640G>A	(Likely) benign	1 lab	fcdf8424f9
13:32914208 BRCA2 A>G	13	32914208	32914208	A	G	BRCA2	c.5716A>G	NM_000059.3	NP_000050.2:p.(Asn1906Asp)	NC_000013.10:g.32914208A>G	(Likely) benign	1 lab	fce14dccb5
12:64173807 RXYLT1 G>A	12	64173807	64173807	G	A	RXYLT1	c.67G>A	NM_014254.2	NP_055069.1:p.(Ala23Thr)	NC_000012.11:g.64173807G>A	(Likely) benign	1 lab	fce1d9c54e
15:73015202 BBS4 G>C	15	73015202	73015202	G	C	BBS4	c.459+14G>C	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.73015202G>C	(Likely) benign	1 lab	fce21e58b7
19:46457053 NOVA2 G>A	19	46457053	46457053	G	A	NOVA2	c.381C>T	NM_002516.4	NP_002507.1:p.(Pro127=)	NC_000019.9:g.46457053G>A	(Likely) benign	1 lab	fce2d006eb
10:77795878 LRMDA C>A	10	77795878	77795878	C	A	LRMDA	c.160C>A	NM_032024.4	NP_114413.1:p.(Leu54Ile)	NC_000010.10:g.77795878C>A	VUS	1 lab	fce56243d1
1:39748948 MACF1 G>C	1	39748948	39748948	G	C	MACF1	c.798G>C	NM_012090.5	NP_036222.3:p.(Gly266=)	NC_000001.10:g.39748948G>C	(Likely) benign	1 lab	fce6d94ed8
2:178386003 AGPS G>T	2	178386003	178386003	G	T	AGPS	c.1704G>T	NM_003659.3	NP_003650.1:p.(Thr568=)	NC_000002.11:g.178386003G>T	(Likely) benign	1 lab	fce8a8254f
19:8670698 ADAMTS10 GGA>G	19	8670698	8670701	GGA	G	ADAMTS10	c.-99-6_-99-5del	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8670700_8670701del	VUS	1 lab	fceadeda52
X:100808720 ARMCX1 T>C	X	100808720	100808720	T	C	ARMCX1	c.807T>C	NM_016608.1	NP_057692.1:p.(Asn269=)	NC_000023.10:g.100808720T>C	(Likely) benign	1 lab	fcf08d451c
7:82585803 PCLO G>C	7	82585803	82585803	G	C	PCLO	c.4466C>G	NM_033026.5	NP_149015.2:p.(Ser1489Cys)	NC_000007.13:g.82585803G>C	(Likely) benign	1 lab	fcf0c14ccc
12:57114436 NACA G>A	12	57114436	57114436	G	A	NACA	c.878C>T	NM_001113203.2	NP_001106674.2:p.(Ala293Val)	NC_000012.11:g.57114436G>A	(Likely) benign	1 lab	fcf0dee1d5
15:87066059 AGBL1 C>T	15	87066059	87066059	C	T	AGBL1	c.2574C>T	NM_152336.3	NP_689549.3:p.(Ser858=)	NC_000015.9:g.87066059C>T	(Likely) benign	1 lab	fcf0e2bdfc
14:23895168 MYH7 C>A	14	23895168	23895168	C	A	MYH7	c.2162+5G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23895168C>A	VUS	1 lab	fcf1300128
14:105415169 AHNAK2 A>G	14	105415169	105415169	A	G	AHNAK2	c.6619T>C	NM_138420.3	NP_612429.2:p.(Ser2207Pro)	NC_000014.8:g.105415169A>G	(Likely) benign	1 lab	fcf17a246d
19:33464469 FAAP24 G>C	19	33464469	33464469	G	C	FAAP24	c.243+1G>C	NM_152266.4	NP_689479.1:p.?	NC_000019.9:g.33464469G>C	VUS	1 lab	fcf19f16cb
21:34926837 SON CTG>C	21	34926837	34926839	CTG	C	SON	c.5301_5302del	NM_138927.4	NP_620305.3:p.(Ala1768GlnfsTer6)	NC_000021.8:g.34926838_34926839del	VUS	1 lab	fcf5704194
17:42941137 EFTUD2 CAT>C	17	42941137	42941139	CAT	C	EFTUD2	c.1297_1298del	NM_004247.4	NP_004238.3:p.(Met433ValfsTer17)	NC_000017.10:g.42941138_42941139del	(Likely) pathogenic	1 lab	fcf71e5c39
7:128498448 FLNC C>T	7	128498448	128498448	C	T	FLNC	c.8049C>T	NM_001458.4	NP_001449.3:p.(Tyr2683=)	NC_000007.13:g.128498448C>T	(Likely) benign	1 lab	fcf87fe943
4:151837819 LRBA C>A	4	151837819	151837819	C	A	LRBA	c.717G>T	NM_001199282.2	NP_001186211.2:p.(Met239Ile)	NC_000004.11:g.151837819C>A	(Likely) benign	1 lab	fcf97708b9
17:45517841 EFCAB13 G>A	17	45517841	45517841	G	A	EFCAB13	c.2683G>A	NM_152347.5	NP_689560.3:p.(Asp895Asn)	NC_000017.10:g.45517841G>A	(Likely) benign	1 lab	fcfbd1e84e
10:100183390 HPS1 A>T	10	100183390	100183390	A	T	HPS1	c.596T>A	NM_001322487.1	NP_001309416.1:p.(Val199Glu)	NC_000010.10:g.100183390A>T	VUS	1 lab	fcfbec8a9c
19:10250889 DNMT1 C>T	19	10250889	10250889	C	T	DNMT1	c.3591G>A	NM_001379.3	NP_001370.1:p.(Leu1197=)	NC_000019.9:g.10250889C>T	(Likely) benign	1 lab	fcfdcbdd3e
8:100147918 VPS13B A>G	8	100147918	100147918	A	G	VPS13B	c.1520A>G	NM_017890.4	NP_060360.3:p.(Asn507Ser)	NC_000008.10:g.100147918A>G	VUS	1 lab	fd019b9968
16:49670955 ZNF423 G>A	16	49670955	49670955	G	A	ZNF423	c.1928C>T	NM_001271620.2	NP_001258549.1:p.(Ser643Leu)	NC_000016.9:g.49670955G>A	VUS	1 lab	fd020541d2
5:140732226 PCDHGB1 T>C	5	140732226	140732226	T	C	PCDHGB1	c.2399T>C	NM_018922.2	NP_061745.1:p.(Leu800Ser)	NC_000005.9:g.140732226T>C	VUS	1 lab	fd049f293f
1:224607296 WDR26 T>C	1	224607296	224607296	T	C	WDR26	c.786A>G	NM_025160.6	NP_079436.4:p.(Ala262=)	NC_000001.10:g.224607296T>C	(Likely) benign	1 lab	fd04ad4eb9
19:38948129 RYR1 A>T	19	38948129	38948129	A	T	RYR1	c.1792-8A>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38948129A>T	(Likely) benign	1 lab	fd05da0266
4:56890683 CEP135 G>T	4	56890683	56890683	G	T	CEP135	c.3337G>T	NM_025009.4	NP_079285.2:p.(Glu1113Ter)	NC_000004.11:g.56890683G>T	VUS	1 lab	fd08f6231c
1:207107955 PIGR G>A	1	207107955	207107955	G	A	PIGR	c.1515C>T	NM_002644.3	NP_002635.2:p.(Ala505=)	NC_000001.10:g.207107955G>A	(Likely) benign	1 lab	fd097188e0
4:119259449 PRSS12 C>T	4	119259449	119259449	C	T	PRSS12	c.523G>A	NM_003619.3	NP_003610.2:p.(Gly175Ser)	NC_000004.11:g.119259449C>T	VUS	1 lab	fd097b3cc6
20:3211834 SLC4A11 C>T	20	3211834	3211834	C	T	SLC4A11	c.1132G>A	NM_001174090.1	NP_001167561.1:p.(Ala378Thr)	NC_000020.10:g.3211834C>T	(Likely) benign	1 lab	fd099c6cb8
3:47887929 DHX30 C>T	3	47887929	47887929	C	T	DHX30	c.1367C>T	NM_138615.3	NP_619520.1:p.(Ser456Phe)	NC_000003.11:g.47887929C>T	VUS	1 lab	fd0d8c744c
15:49044657 CEP152 C>T	15	49044657	49044657	C	T	CEP152	c.3355G>A	NM_001194998.1	NP_001181927.1:p.(Ala1119Thr)	NC_000015.9:g.49044657C>T	(Likely) benign	1 lab	fd0e300a00
X:114537961 LUZP4 A>T	X	114537961	114537961	A	T	LUZP4	c.320A>T	NM_016383.4	NP_057467.1:p.(Asn107Ile)	NC_000023.10:g.114537961A>T	(Likely) benign	1 lab	fd0e4f45e3
17:18069800 MYO15A G>A	17	18069800	18069800	G	A	MYO15A	c.9913G>A	NM_016239.3	NP_057323.3:p.(Glu3305Lys)	NC_000017.10:g.18069800G>A	VUS	1 lab	fd0f2a7238
1:13414126 PRAMEF10 A>G	1	13414126	13414126	A	G	PRAMEF10	c.1069A>G	NM_001039361.4	NP_001034450.3:p.(Lys357Glu)	NC_000001.10:g.13414126A>G	(Likely) benign	1 lab	fd0f6f9cf0
10:104157078 NFKB2 C>T	10	104157078	104157078	C	T	NFKB2	c.415C>T	NM_001288724.1	NP_001275653.1:p.(Leu139=)	NC_000010.10:g.104157078C>T	(Likely) benign	1 lab	fd0f96c0d2
X:24024739 KLHL15 C>T	X	24024739	24024739	C	T	KLHL15	c.72G>A	NM_030624.2	NP_085127.2:p.(Leu24=)	NC_000023.10:g.24024739C>T	(Likely) benign	1 lab	fd0f9b9f90
14:95563053 DICER1 G>A	14	95563053	95563053	G	A	DICER1	c.4207-3C>T	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95563053G>A	(Likely) benign	1 lab	fd10941f39
2:73679482 ALMS1 G>A	2	73679482	73679482	G	A	ALMS1	c.5831G>A	NM_015120.4	NP_055935.4:p.(Arg1944His)	NC_000002.11:g.73679482G>A	VUS	1 lab	fd117fc7ba
16:2161688 PKD1 C>A	16	2161688	2161688	C	A	PKD1	c.3480G>T	NM_001009944.2	NP_001009944.2:p.(Thr1160=)	NC_000016.9:g.2161688C>A	(Likely) benign	1 lab	fd11db68b9
3:10081527 FANCD2 CAGGTGG>C	3	10081527	10081534	CAGGTGG	C	FANCD2	c.695_695+5del	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10081529_10081534del	(Likely) pathogenic	1 lab	fd132df64a
9:135782718 TSC1 G>A	9	135782718	135782718	G	A	TSC1	c.1303C>T	NM_000368.4	NP_000359.1:p.(Gln435Ter)	NC_000009.11:g.135782718G>A	(Likely) pathogenic	1 lab	fd134c7f8a
9:101068526 GABBR2 C>T	9	101068526	101068526	C	T	GABBR2	c.2106G>A	NM_005458.7	NP_005449.5:p.(Met702Ile)	NC_000009.11:g.101068526C>T	VUS	1 lab	fd1457eb22
3:128628932 ACAD9 G>A	3	128628932	128628932	G	A	ACAD9	c.1632G>A	NM_014049.4	NP_054768.2:p.(Thr544=)	NC_000003.11:g.128628932G>A	(Likely) benign	1 lab	fd14e31e44
1:12520393 VPS13D G>A	1	12520393	12520393	G	A	VPS13D	c.12604G>A	NM_015378.4	NP_056193.2:p.(Asp4202Asn)	NC_000001.10:g.12520393G>A	VUS	1 lab	fd1692a698
17:78032408 CCDC40 C>T	17	78032408	78032408	C	T	CCDC40	c.1275C>T	NM_017950.3	NP_060420.2:p.(Ala425=)	NC_000017.10:g.78032408C>T	(Likely) benign	1 lab	fd169799ee
3:112736369 RMP64 C>T	3	112736369	112736369	C	T	RMP64	c.187G>A	NM_015412.4	NP_056227.2:p.(Asp63Asn)	NC_000003.11:g.112736369C>T	VUS	1 lab	fd16b49411
8:42287711 SLC20A2 G>A	8	42287711	42287711	G	A	SLC20A2	c.1580C>T	NM_001257180.2	NP_001244109.1:p.(Thr527Met)	NC_000008.10:g.42287711G>A	(Likely) benign	1 lab	fd17be11be
2:163130398 IFIH1 G>A	2	163130398	163130398	G	A	IFIH1	c.2361C>T	NM_022168.4	NP_071451.2:p.(Ile787=)	NC_000002.11:g.163130398G>A	(Likely) benign	1 lab	fd17c5de25
X:128709193 OCRL A>ACTTC	X	128709193	128709208	A	ACTTC	OCRL	c.1691_1694dup	NM_000276.3	NP_000267.2:p.(Leu565PhefsTer12)	NC_000023.10:g.128709205_128709208dup	(Likely) pathogenic	1 lab	fd183eccc2
20:57429590 GNAS G>C	20	57429590	57429590	G	C	GNAS	c.1270G>C	NM_080425.3	NP_536350.2:p.(Ala424Pro)	NC_000020.10:g.57429590G>C	(Likely) benign	1 lab	fd1a01a0fb
4:40245389 RHOH C>T	4	40245389	40245389	C	T	RHOH	c.383C>T	NM_001278359.1	NP_001265288.1:p.(Ala128Val)	NC_000004.11:g.40245389C>T	(Likely) benign	1 lab	fd1c7e7780
19:55107223 LILRA1 G>T	19	55107223	55107223	G	T	LILRA1	c.781G>T	NM_006863.3	NP_006854.1:p.(Gly261Ter)	NC_000019.9:g.55107223G>T	(Likely) benign	1 lab	fd1d76978a
6:42147102 GUCA1A C>T	6	42147102	42147102	C	T	GUCA1A	c.567C>T	NM_000409.4	NP_000400.2:p.(Asp189=)	NC_000006.11:g.42147102C>T	(Likely) benign	1 lab	fd1fa8246f
2:37873429 CDC42EP3 G>A	2	37873429	37873429	G	A	CDC42EP3	c.302C>T	NM_006449.4	NP_006440.2:p.(Pro101Leu)	NC_000002.11:g.37873429G>A	VUS	1 lab	fd21be772a
17:78194025 SGSH C>T	17	78194025	78194025	C	T	SGSH	c.88G>A	NM_001352921.1	NP_001339850.1:p.(Ala30Thr)	NC_000017.10:g.78194025C>T	VUS	1 lab	fd2214674d
X:117796673 DOCK11 C>T	X	117796673	117796673	C	T	DOCK11	c.4994C>T	NM_144658.3	NP_653259.3:p.(Ala1665Val)	NC_000023.10:g.117796673C>T	VUS	1 lab	fd22d53c22
17:61781104 STRADA C>T	17	61781104	61781104	C	T	STRADA	c.1151G>A	NM_001003787.3	NP_001003787.1:p.(Arg384Gln)	NC_000017.10:g.61781104C>T	VUS	1 lab	fd22de58d1
2:239010673 ESPNL C>T	2	239010673	239010673	C	T	ESPNL	c.386C>T	NM_194312.4	NP_919288.2:p.(Ser129Leu)	NC_000002.11:g.239010673C>T	(Likely) benign	1 lab	fd2308f963
10:64967249 JMJD1C T>A	10	64967249	64967249	T	A	JMJD1C	c.4180A>T	NM_032776.2	NP_116165.1:p.(Thr1394Ser)	NC_000010.10:g.64967249T>A	VUS	1 lab	fd2ccdd034
2:179425413 TTN A>G	2	179425413	179425413	A	G	TTN	c.85446T>C	NM_001267550.1	NP_001254479.1:p.(Asp28482=)	NC_000002.11:g.179425413A>G	(Likely) benign	1 lab	fd23c7d53a
3:164783069 SI G>A	3	164783069	164783069	G	A	SI	c.787C>T	NM_001041.3	NP_001032.2:p.(Arg263Ter)	NC_000003.11:g.164783069G>A	(Likely) pathogenic	1 lab	fd2457ac75
1:115238177 AMPD1 T>C	1	115238177	115238177	T	C	AMPD1	c.15A>G	NM_000036.2	NP_000027.2:p.(Ile5Met)	NC_000001.10:g.115238177T>C	(Likely) benign	1 lab	fd245b610c
16:30767709 PHKG2 G>A	16	30767709	30767709	G	A	PHKG2	c.669G>A	NM_000294.2	NP_000285.1:p.(Leu223=)	NC_000016.9:g.30767709G>A	(Likely) benign	1 lab	fd25a3f28d
2:88926729 EIF2AK3 C>CCAGCAG	2	88926729	88926754	C	CCAGCAG	EIF2AK3	c.58_63dup	NM_004836.6	NP_004827.4:p.(Leu20_Leu21dup)	NC_000002.11:g.88926749_88926754dup	VUS	1 lab	fd263d0150
2:135848657 RAB3GAP1 A>C	2	135848657	135848657	A	C	RAB3GAP1	c.240A>C	NM_001172435.1	NP_001165906.1:p.(Val80=)	NC_000002.11:g.135848657A>C	(Likely) benign	1 lab	fd26cfd18d
3:129247606 RHO C>T	3	129247606	129247606	C	T	RHO	c.30C>T	NM_000539.3	NP_000530.1:p.(Tyr10=)	NC_000003.11:g.129247606C>T	(Likely) benign	1 lab	fd27e96521
15:99251169 IGF1R C>G	15	99251169	99251169	C	G	IGF1R	c.473C>G	NM_000875.4	NP_000866.1:p.(Ser158Cys)	NC_000015.9:g.99251169C>G	VUS	1 lab	fd2a354570
10:50714020 ERCC6 C>T	10	50714020	50714020	C	T	ERCC6	c.1436G>A	NM_000124.2	NP_000115.1:p.(Arg479His)	NC_000010.10:g.50714020C>T	(Likely) benign	1 lab	fd2bb99a85
19:53014970 ZNF578 C>G	19	53014970	53014970	C	G	ZNF578	c.1336C>G	NM_001099694.2	NP_001093164.1:p.(His446Asp)	NC_000019.9:g.53014970C>G	VUS	1 lab	fd2beadea0
1:173931002 RC3H1 C>T	1	173931002	173931002	C	T	RC3H1	c.2063G>A	NM_001300850.1	NP_001287779.1:p.(Arg688Gln)	NC_000001.10:g.173931002C>T	(Likely) benign	1 lab	fd2bfc12b1
5:149907864 NDST1 T>A	5	149907864	149907864	T	A	NDST1	c.1008+4T>A	NM_001543.4	NP_001534.1:p.?	NC_000005.9:g.149907864T>A	(Likely) benign	1 lab	fd2c53710f
X:32486810 DMD C>G	X	32486810	32486810	C	G	DMD	c.2598G>C	NM_004010.3	NP_004001.1:p.(Leu866=)	NC_000023.10:g.32486810C>G	(Likely) benign	1 lab	fd2c82cd8d
2:1653188 PXDN G>A	2	1653188	1653188	G	A	PXDN	c.2364C>T	NM_012293.2	NP_036425.1:p.(Asn788=)	NC_000002.11:g.1653188G>A	(Likely) benign	1 lab	fd2d59dda5
6:152768583 SYNE1 A>G	6	152768583	152768583	A	G	SYNE1	c.3669+10T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152768583A>G	(Likely) benign	1 lab	fd2ded5dac
18:6997776 LAMA1 A>G	18	6997776	6997776	A	G	LAMA1	c.4771T>C	NM_005559.3	NP_005550.2:p.(Leu1591=)	NC_000018.9:g.6997776A>G	(Likely) benign	1 lab	fd2dfaf7c4
17:78165123 CARD14 C>T	17	78165123	78165123	C	T	CARD14	c.1091C>T	NM_024110.4	NP_077015.2:p.(Ala364Val)	NC_000017.10:g.78165123C>T	VUS	1 lab	fd2f328a61
5:37213726 CPLANE1 T>C	5	37213726	37213726	T	C	CPLANE1	c.2855A>G	NM_023073.3	NP_075561.3:p.(Asn952Ser)	NC_000005.9:g.37213726T>C	VUS	1 lab	fd32200c11
16:2115556 TSC2 G>T	16	2115556	2115556	G	T	TSC2	c.1636G>T	NM_000548.3	NP_000539.2:p.(Glu546Ter)	NC_000016.9:g.2115556G>T	(Likely) pathogenic	1 lab	fd322a2316
18:44104749 LOXHD1 G>A	18	44104749	44104749	G	A	LOXHD1	c.4662C>T	NM_144612.6	NP_653213.6:p.(Asp1554=)	NC_000018.9:g.44104749G>A	(Likely) benign	1 lab	fd34004a9d
5:176836041 F12 A>C	5	176836041	176836041	A	C	F12	c.115+6T>G	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176836041A>C	(Likely) benign	1 lab	fd34595e37
18:47431128 MYO5B G>A	18	47431128	47431128	G	A	MYO5B	c.2485C>T	NM_001080467.2	NP_001073936.1:p.(Arg829Cys)	NC_000018.9:g.47431128G>A	(Likely) benign	1 lab	fd37fef2d3
3:155571100 SLC33A1 A>G	3	155571100	155571100	A	G	SLC33A1	c.687T>C	NM_004733.3	NP_004724.1:p.(Asn229=)	NC_000003.11:g.155571100A>G	(Likely) benign	1 lab	fd38ae5849
X:5821524 NLGN4X C>T	X	5821524	5821524	C	T	NLGN4X	c.1195G>A	NM_001282145.1	NP_001269074.1:p.(Val399Met)	NC_000023.10:g.5821524C>T	VUS	1 lab	fd394249ea
4:25153606 SEPSECS T>C	4	25153606	25153606	T	C	SEPSECS	c.780A>G	NM_016955.3	NP_058651.3:p.(Ser260=)	NC_000004.11:g.25153606T>C	(Likely) benign	1 lab	fd3dacbf2a
17:12921230 ELAC2 G>A	17	12921230	12921230	G	A	ELAC2	c.35C>T	NM_018127.6	NP_060597.4:p.(Ala12Val)	NC_000017.10:g.12921230G>A	(Likely) benign	1 lab	fd3ffd5c1e
17:72915920 USH1G A>C	17	72915920	72915920	A	C	USH1G	c.1011T>G	NM_173477.4	NP_775748.2:p.(Asp337Glu)	NC_000017.10:g.72915920A>C	(Likely) benign	1 lab	fd40bfb179
X:118971949 UPF3B C>T	X	118971949	118971949	C	T	UPF3B	c.1073G>A	NM_080632.2	NP_542199.1:p.(Arg358His)	NC_000023.10:g.118971949C>T	(Likely) benign	1 lab	fd41de20d7
16:2106195 TSC2 A>G	16	2106195	2106195	A	G	TSC2	c.600-2A>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2106195A>G	(Likely) pathogenic	1 lab	fd41f10c15
10:28900704 WAC C>G	10	28900704	28900704	C	G	WAC	c.1155C>G	NM_100264.2	NP_567822.1:p.(Ala385=)	NC_000010.10:g.28900704C>G	(Likely) benign	1 lab	fd43d1f8b0
16:2112603 TSC2 T>G	16	2112603	2112603	T	G	TSC2	c.1361+2T>G	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2112603T>G	(Likely) pathogenic	1 lab	fd447c8107
1:228559887 OBSCN C>T	1	228559887	228559887	C	T	OBSCN	c.24279C>T	NM_001271223.2	NP_001258152.2:p.(Ser8093=)	NC_000001.10:g.228559887C>T	(Likely) benign	1 lab	fd4541f893
4:515845 PIGG G>A	4	515845	515845	G	A	PIGG	c.1614+115G>A	NM_001127178.2	NP_001120650.1:p.?	NC_000004.11:g.515845G>A	(Likely) benign	1 lab	fd45bfb68c
X:102004385 GPRASP3 G>A	X	102004385	102004385	G	A	GPRASP3	c.462G>A	NM_001142524.2	NP_001135996.1:p.(Ala154=)	NC_000023.10:g.102004385G>A	(Likely) benign	1 lab	fd4920fc62
20:33588958 MYH7B C>T	20	33588958	33588958	C	T	MYH7B	c.5598C>T	NM_020884.4	NP_065935.3:p.(Ala1866=)	NC_000020.10:g.33588958C>T	(Likely) benign	1 lab	fd4962b820
X:44120510 EFHC2 C>T	X	44120510	44120510	C	T	EFHC2	c.417G>A	NM_025184.3	NP_079460.2:p.(Pro139=)	NC_000023.10:g.44120510C>T	(Likely) benign	1 lab	fd49c49661
1:185946984 HMCN1 C>T	1	185946984	185946984	C	T	HMCN1	c.2437C>T	NM_031935.2	NP_114141.2:p.(Pro813Ser)	NC_000001.10:g.185946984C>T	VUS	1 lab	fd4a639a0b
16:89795647 ZNF276 G>A	16	89795647	89795647	G	A	ZNF276	c.1090G>A	NM_001113525.2	NP_001106997.1:p.(Val364Ile)	NC_000016.9:g.89795647G>A	(Likely) benign	1 lab	fd4b4c021a
3:136012689 PCCB C>T	3	136012689	136012689	C	T	PCCB	c.806C>T	NM_001178014.1	NP_001171485.1:p.(Thr269Ile)	NC_000003.11:g.136012689C>T	VUS	1 lab	fd4cf0e8b2
1:197071664 ASPM C>G	1	197071664	197071664	C	G	ASPM	c.6717G>C	NM_018136.4	NP_060606.3:p.(Leu2239=)	NC_000001.10:g.197071664C>G	(Likely) benign	1 lab	fd4d042738
7:91852294 KRIT1 T>C	7	91852294	91852294	T	C	KRIT1	c.1255-2A>G	NM_004912.4	NP_004903.2:p.?	NC_000007.13:g.91852294T>C	(Likely) pathogenic	1 lab	fd4dbf151a
1:222712118 HHIPL2 T>A	1	222712118	222712118	T	A	HHIPL2	c.1451-2A>T	NM_024746.4	NP_079022.2:p.?	NC_000001.10:g.222712118T>A	VUS	1 lab	fd4ddddf6e
16:2547027 TBC1D24 G>A	16	2547027	2547027	G	A	TBC1D24	c.878G>A	NM_001199107.1	NP_001186036.1:p.(Arg293His)	NC_000016.9:g.2547027G>A	VUS	1 lab	fd4e2096b4
8:90993716 NBN T>C	8	90993716	90993716	T	C	NBN	c.207A>G	NM_002485.4	NP_002476.2:p.(Lys69=)	NC_000008.10:g.90993716T>C	(Likely) benign	1 lab	fd4e337a5f
10:55663054 PCDH15 G>T	10	55663054	55663054	G	T	PCDH15	c.3450C>A	NM_001354429.1	NP_001341358.1:p.(Ile1150=)	NC_000010.10:g.55663054G>T	(Likely) benign	1 lab	fd50c768b8
1:231902912 DISC1 C>T	1	231902912	231902912	C	T	DISC1	c.1391C>T	NM_001164537.1	NP_001158009.1:p.(Pro464Leu)	NC_000001.10:g.231902912C>T	(Likely) benign	1 lab	fd50eebd10
2:29295333 PCARE A>T	2	29295333	29295333	A	T	PCARE	c.1795T>A	NM_001029883.2	NP_001025054.1:p.(Cys599Ser)	NC_000002.11:g.29295333A>T	VUS	1 lab	fd52bc32c1
16:67282986 SLC9A5 G>T	16	67282986	67282986	G	T	SLC9A5	c.69G>T	NM_004594.3	NP_004585.1:p.(Lys23Asn)	NC_000016.9:g.67282986G>T	(Likely) benign	1 lab	fd5305ca61
X:153040756 PLXNB3 C>A	X	153040756	153040756	C	A	PLXNB3	c.4301C>A	NM_001163257.1	NP_001156729.1:p.(Ala1434Glu)	NC_000023.10:g.153040756C>A	VUS	1 lab	fd531e64bf
7:21744039 DNAH11 T>G	7	21744039	21744039	T	G	DNAH11				NC_000007.13:g.21744039T>G	(Likely) benign	1 lab	fd54a6c615
X:47307053 ZNF41 G>A	X	47307053	47307053	G	A	ZNF41	c.2116C>T	NM_007130.3	NP_009061.1:p.(Leu706Phe)	NC_000023.10:g.47307053G>A	(Likely) benign	1 lab	fd54c34b67
8:65509471 CYP7B1 G>A	8	65509471	65509471	G	A	CYP7B1	c.1249C>T	NM_004820.4	NP_004811.1:p.(Arg417Cys)	NC_000008.10:g.65509471G>A	VUS	1 lab	fd551381c1
21:34926415 SON T>C	21	34926415	34926415	T	C	SON	c.4878T>C	NM_138927.2	NP_620305.2:p.(Tyr1626=)	NC_000021.8:g.34926415T>C	(Likely) benign	1 lab	fd5602da9a
2:222428907 EPHA4 T>TA	2	222428907	222428910	T	TA	EPHA4	c.366dup	NM_001304536.1	NP_001291465.1:p.(Asn123Ter)	NC_000002.11:g.222428910dup	VUS	1 lab	fd5696b574
16:89836623 FANCA C>G	16	89836623	89836623	C	G	FANCA	c.2267G>C	NM_001286167.2	NP_001273096.1:p.(Arg756Pro)	NC_000016.9:g.89836623C>G	(Likely) benign	1 lab	fd575cdce0
15:28388090 HERC2 T>C	15	28388090	28388090	T	C	HERC2	c.11427A>G	NM_004667.5	NP_004658.3:p.(Thr3809=)	NC_000015.9:g.28388090T>C	(Likely) benign	1 lab	fd5a573e14
1:197070906 ASPM C>T	1	197070906	197070906	C	T	ASPM	c.7475G>A	NM_018136.4	NP_060606.3:p.(Arg2492Lys)	NC_000001.10:g.197070906C>T	VUS	1 lab	fd5c586f63
X:109694238 RTL9 C>T	X	109694238	109694238	C	T	RTL9	c.393C>T	NM_020769.2	NP_065820.1:p.(Ser131=)	NC_000023.10:g.109694238C>T	(Likely) benign	1 lab	fd5cb5598f
22:29445615 ZNRF3 G>C	22	29445615	29445615	G	C	ZNRF3	c.1446G>C	NM_001206998.1	NP_001193927.1:p.(Gln482His)	NC_000022.10:g.29445615G>C	VUS	1 lab	fd5dc9d899
22:38165309 TRIOBP G>A	22	38165309	38165309	G	A	TRIOBP	c.6776G>A	NM_001039141.2	NP_001034230.1:p.(Arg2259His)	NC_000022.10:g.38165309G>A	VUS	1 lab	fd6126687d
1:181740452 MISSING C>T	1	181740452	181740452	C	T	MISSING				NC_000001.10:g.181740452C>T	(Likely) benign	1 lab	fd6b022e5f
2:228121067 COL4A3 G>A	2	228121067	228121067	G	A	COL4A3	c.942G>A	NM_000091.4	NP_000082.2:p.(Lys314=)	NC_000002.11:g.228121067G>A	(Likely) benign	1 lab	fd6d1a2c70
8:145642014 SLC39A4 G>A	8	145642014	145642014	G	A	SLC39A4	c.160C>T	NM_130849.3	NP_570901.2:p.(Arg54Cys)	NC_000008.10:g.145642014G>A	VUS	1 lab	fd6f88865d
19:36223209 KMT2B C>T	19	36223209	36223209	C	T	KMT2B	c.5759C>T	NM_014727.2	NP_055542.1:p.(Ala1920Val)	NC_000019.9:g.36223209C>T	(Likely) benign	1 lab	fd6ffd6999
15:48729200 FBN1 C>T	15	48729200	48729200	C	T	FBN1	c.6454G>A	NM_000138.4	NP_000129.3:p.(Glu2152Lys)	NC_000015.9:g.48729200C>T	(Likely) pathogenic	1 lab	fd7099a60c
X:106108850 TBC1D8B T>C	X	106108850	106108850	T	C	TBC1D8B	c.2414T>C	NM_017752.2	NP_060222.2:p.(Ile805Thr)	NC_000023.10:g.106108850T>C	VUS	1 lab	fd70e910e0
5:35965839 UGT3A1 G>A	5	35965839	35965839	G	A	UGT3A1	c.330C>T	NM_001171873.1	NP_001165344.1:p.(Ala110=)	NC_000005.9:g.35965839G>A	(Likely) benign	1 lab	fd713373d2
12:58190298 TSFM G>T	12	58190298	58190298	G	T	TSFM	c.973G>T	NM_001172696.1	NP_001166167.1:p.(Gly325Trp)	NC_000012.11:g.58190298G>T	(Likely) pathogenic	1 lab	fd71915195
2:27883851 SUPT7L C>T	2	27883851	27883851	C	T	SUPT7L	c.413G>A	NM_001282730.1	NP_001269659.1:p.(Arg138His)	NC_000002.11:g.27883851C>T	VUS	1 lab	fd72f19c2a
12:113405912 OAS3 A>C	12	113405912	113405912	A	C	OAS3	c.3037A>C	NM_006187.4	NP_006178.2:p.(Thr1013Pro)	NC_000012.11:g.113405912A>C	VUS	1 lab	fd756ce252
11:17531313 USH1C C>T	11	17531313	17531313	C	T	USH1C	c.1603G>A	NM_153676.3	NP_710142.1:p.(Gly535Arg)	NC_000011.9:g.17531313C>T	VUS	1 lab	fd75c0b446
19:14031412 CC2D1A C>G	19	14031412	14031412	C	G	CC2D1A	c.1399C>G	NM_017721.4	NP_060191.3:p.(Pro467Ala)	NC_000019.9:g.14031412C>G	(Likely) benign	1 lab	fd764a357d
3:52419404 DNAH1 A>G	3	52419404	52419404	A	G	DNAH1	c.8566A>G	NM_015512.4	NP_056327.4:p.(Met2856Val)	NC_000003.11:g.52419404A>G	VUS	1 lab	fd78ebdcd2
17:59878770 BRIP1 G>A	17	59878770	59878770	G	A	BRIP1	c.984C>T	NM_032043.2	NP_114432.2:p.(Phe328=)	NC_000017.10:g.59878770G>A	(Likely) benign	1 lab	fd7a0a8131
17:29486027 NF1 G>T	17	29486027	29486027	G	T	NF1	c.205-1G>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29486027G>T	(Likely) pathogenic	1 lab	fd7a3505d5
7:100281208 GIGYF1 CCT>C	7	100281208	100281210	CCT	C	GIGYF1	c.2015_2016del	NM_001375765.1	NP_001362694.1:p.(Gln672ArgfsTer12)	NC_000007.13:g.100281209_100281210del	VUS	1 lab	fd7b9eb0e0
11:6648709 DCHS1 G>A	11	6648709	6648709	G	A	DCHS1				NC_000011.9:g.6648709G>A	(Likely) benign	1 lab	fd7bac6dd9
17:29509537 NF1 A>T	17	29509537	29509537	A	T	NF1	c.742A>T	NM_000267.3	NP_000258.1:p.(Lys248Ter)	NC_000017.10:g.29509537A>T	(Likely) pathogenic	1 lab	fd7bef13ee
11:17531361 USH1C G>A	11	17531361	17531361	G	A	USH1C	c.1555C>T	NM_153676.3	NP_710142.1:p.(Pro519Ser)	NC_000011.9:g.17531361G>A	(Likely) benign	1 lab	fd7ef7151a
14:74196447 MIDEAS C>G	14	74196447	74196447	C	G	MIDEAS	c.1991G>C	NM_194278.3	NP_919254.2:p.(Arg664Pro)	NC_000014.8:g.74196447C>G	VUS	1 lab	fd7f01dcd0
3:4704730 ITPR1 TAGC>T	3	4704730	4704733	TAGC	T	ITPR1	c.1413-18_1413-16del	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4704731_4704733del	(Likely) benign	1 lab	fd805f3678
19:619099 POLRMT G>A	19	619099	619099	G	A	POLRMT	c.3165C>T	NM_005035.3	NP_005026.3:p.(Thr1055=)	NC_000019.9:g.619099G>A	(Likely) benign	1 lab	fd8462c86b
6:36196724 BRPF3 G>A	6	36196724	36196724	G	A	BRPF3	c.3325G>A	NM_015695.3	NP_056510.2:p.(Val1109Ile)	NC_000006.11:g.36196724G>A	(Likely) benign	1 lab	fd87decf7e
1:1417565 ATAD3B C>T	1	1417565	1417565	C	T	ATAD3B	c.562C>T	NM_031921.5	NP_114127.3:p.(Arg188Ter)	NC_000001.10:g.1417565C>T	VUS	1 lab	fd8c5f931c
11:1271990 MUC5B C>T	11	1271990	1271990	C	T	MUC5B	c.13880C>T	NM_002458.2	NP_002449.2:p.(Thr4627Ile)	NC_000011.9:g.1271990C>T	(Likely) benign	1 lab	fd8ea847ee
22:51159488 MISSING C>G	22	51159488	51159488	C	G	MISSING				NC_000022.10:g.51159488C>G	VUS	1 lab	fd8ede6cda
7:42004382 GLI3 TGGGG>T	7	42004382	42004386	TGGGG	T	GLI3	c.4285_4288del	NM_000168.6	NP_000159.3:p.(Pro1429IlefsTer58)	NC_000007.13:g.42004383_42004386del	(Likely) pathogenic	1 lab	fd8f672322
19:45989011 RTN2 G>A	19	45989011	45989011	G	A	RTN2	c.1593C>T	NM_005619.4	NP_005610.1:p.(Ala531=)	NC_000019.9:g.45989011G>A	(Likely) benign	1 lab	fd8fbedfdd
1:16475243 EPHA2 G>A	1	16475243	16475243	G	A	EPHA2	c.453C>T	NM_004431.4	NP_004422.2:p.(Thr151=)	NC_000001.10:g.16475243G>A	(Likely) benign	1 lab	fd91b5aa02
21:47836426 PCNT T>C	21	47836426	47836426	T	C	PCNT	c.6594T>C	NM_006031.5	NP_006022.3:p.(Gly2198=)	NC_000021.8:g.47836426T>C	(Likely) benign	1 lab	fd920ceb82
12:106848274 POLR3B A>G	12	106848274	106848274	A	G	POLR3B	c.2084-6A>G	NM_018082.5	NP_060552.4:p.?	NC_000012.11:g.106848274A>G	VUS	1 lab	fd92130453
16:2134606 TSC2 C>G	16	2134606	2134606	C	G	TSC2	c.4383C>G	NM_000548.3	NP_000539.2:p.(Tyr1461Ter)	NC_000016.9:g.2134606C>G	(Likely) pathogenic	1 lab	fd9360af01
1:24144055 HMGCL C>G	1	24144055	24144055	C	G	HMGCL	c.163G>C	NM_000191.2	NP_000182.2:p.(Val55Leu)	NC_000001.10:g.24144055C>G	(Likely) benign	1 lab	fd9468758c
X:11157406 ARHGAP6 C>T	X	11157406	11157406	C	T	ARHGAP6	c.2502G>A	NM_013427.2	NP_038286.2:p.(Thr834=)	NC_000023.10:g.11157406C>T	(Likely) benign	1 lab	fd96012e81
19:13372340 CACNA1A C>A	19	13372340	13372340	C	A	CACNA1A	c.4186G>T	NM_023035.2	NP_075461.2:p.(Val1396Leu)	NC_000019.9:g.13372340C>A	(Likely) pathogenic	1 lab	fd986081d1
2:179463925 TTN A>G	2	179463925	179463925	A	G	TTN	c.56595T>C	NM_001267550.1	NP_001254479.1:p.(Tyr18865=)	NC_000002.11:g.179463925A>G	(Likely) benign	1 lab	fd989041e1
8:38006217 STAR C>T	8	38006217	38006217	C	T	STAR	c.120G>A	NM_000349.2	NP_000340.2:p.(Leu40=)	NC_000008.10:g.38006217C>T	(Likely) benign	1 lab	fd9b1c6f7e
20:62294245 RTEL1 A>G	20	62294245	62294245	A	G	RTEL1	c.538+3A>G	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62294245A>G	VUS	1 lab	fd9d150a1a
X:80001214 BRWD3 C>T	X	80001214	80001214	C	T	BRWD3	c.445G>A	NM_153252.4	NP_694984.4:p.(Ala149Thr)	NC_000023.10:g.80001214C>T	VUS	1 lab	fd9f1adc14
2:102965676 IL1RL1 A>G	2	102965676	102965676	A	G	IL1RL1	c.1255A>G	NM_016232.4	NP_057316.3:p.(Ile419Val)	NC_000002.11:g.102965676A>G	VUS	1 lab	fd9f650968
10:26463443 MYO3A C>T	10	26463443	26463443	C	T	MYO3A	c.4250C>T	NM_017433.5	NP_059129.3:p.(Thr1417Ile)	NC_000010.10:g.26463443C>T	(Likely) benign	1 lab	fda3198555
12:122710554 DIABLO G>C	12	122710554	122710554	G	C	DIABLO	c.8C>G	NM_019887.5	NP_063940.1:p.(Ala3Gly)	NC_000012.11:g.122710554G>C	(Likely) benign	1 lab	fda4694a3d
7:107330667 SLC26A4 T>A	7	107330667	107330667	T	A	SLC26A4	c.1248T>A	NM_000441.1	NP_000432.1:p.(Thr416=)	NC_000007.13:g.107330667T>A	(Likely) benign	1 lab	fda4e28999
11:6567433 DNHD1 G>A	11	6567433	6567433	G	A	DNHD1	c.5264G>A	NM_144666.2	NP_653267.2:p.(Arg1755His)	NC_000011.9:g.6567433G>A	(Likely) benign	1 lab	fda63900ec
X:49114014 FOXP3 C>T	X	49114014	49114014	C	T	FOXP3	c.324G>A	NM_014009.3	NP_054728.2:p.(Thr108=)	NC_000023.10:g.49114014C>T	(Likely) benign	1 lab	fda8c1c4cf
X:2856166 ARSL C>T	X	2856166	2856166	C	T	ARSL	c.1334G>A	NM_001282628.1	NP_001269557.1:p.(Arg445Gln)	NC_000023.10:g.2856166C>T	(Likely) benign	1 lab	fda9b82989
5:140594775 PCDHB13 C>T	5	140594775	140594775	C	T	PCDHB13	c.1080C>T	NM_018933.3	NP_061756.1:p.(Asn360=)	NC_000005.9:g.140594775C>T	(Likely) benign	1 lab	fdaea1c98f
1:228476346 OBSCN G>C	1	228476346	228476346	G	C	OBSCN	c.11383G>C	NM_001271223.2	NP_001258152.2:p.(Gly3795Arg)	NC_000001.10:g.228476346G>C	VUS	1 lab	fdaec90209
14:102916136 TECPR2 G>C	14	102916136	102916136	G	C	TECPR2	c.3246G>C	NM_014844.4	NP_055659.2:p.(Gly1082=)	NC_000014.8:g.102916136G>C	(Likely) benign	1 lab	fdaf4b55b6
11:17574691 OTOG C>T	11	17574691	17574691	C	T	OTOG	c.354C>T	NM_001277269.1	NP_001264198.1:p.(Gly118=)	NC_000011.9:g.17574691C>T	(Likely) benign	1 lab	fdb3288e8c
10:73492096 CDH23 C>G	10	73492096	73492096	C	G	CDH23	c.4068C>G	NM_022124.5	NP_071407.4:p.(Thr1356=)	NC_000010.10:g.73492096C>G	(Likely) benign	1 lab	fdb39ff156
X:152710444 TREX2 G>A	X	152710444	152710444	G	A	TREX2	c.445C>T	NM_080701.3	NP_542432.2:p.(Pro149Ser)	NC_000023.10:g.152710444G>A	(Likely) benign	1 lab	fdb456e7ae
2:179604360 TTN C>A	2	179604360	179604360	C	A	TTN	c.13600G>T	NM_001267550.1	NP_001254479.1:p.(Glu4534Ter)	NC_000002.11:g.179604360C>A	VUS	1 lab	fdb45fe0f8
15:28202839 OCA2 C>T	15	28202839	28202839	C	T	OCA2	c.1679G>A	NM_000275.2	NP_000266.2:p.(Arg560His)	NC_000015.9:g.28202839C>T	(Likely) benign	1 lab	fdb658129b
8:13356781 DLC1 A>G	8	13356781	13356781	A	G	DLC1	c.800T>C	NM_182643.2	NP_872584.2:p.(Leu267Pro)	NC_000008.10:g.13356781A>G	(Likely) benign	1 lab	fdb6ad3c21
6:32806024 TAP2 G>C	6	32806024	32806024	G	C	TAP2	c.-4-10C>G	NM_001290043.1	NP_001276972.1:p.?	NC_000006.11:g.32806024G>C	(Likely) benign	1 lab	fdb6d7bae4
X:150840994 PASD1 G>A	X	150840994	150840994	G	A	PASD1	c.1777G>A	NM_173493.2	NP_775764.2:p.(Val593Ile)	NC_000023.10:g.150840994G>A	(Likely) benign	1 lab	fdb7b9bf25
16:23409437 COG7 G>T	16	23409437	23409437	G	T	COG7	c.1817C>A	NM_153603.3	NP_705831.1:p.(Ala606Asp)	NC_000016.9:g.23409437G>T	(Likely) benign	1 lab	fdb99c0d6c
8:133637500 DNAAF11 T>C	8	133637500	133637500	T	C	DNAAF11	c.836+18A>G	NM_012472.5	NP_036604.2:p.?	NC_000008.10:g.133637500T>C	(Likely) benign	1 lab	fdba367e4a
X:41075316 USP9X C>T	X	41075316	41075316	C	T	USP9X	c.5496C>T	NM_001039591.3	NP_001034680.2:p.(Val1832=)	NC_000023.10:g.41075316C>T	(Likely) benign	1 lab	fdbc77dc28
6:159399284 RSPH3 T>C	6	159399284	159399284	T	C	RSPH3	c.1372+8A>G	NM_031924.5	NP_114130.3:p.?	NC_000006.11:g.159399284T>C	(Likely) benign	1 lab	fdbda71597
1:9307018 H6PD C>A	1	9307018	9307018	C	A	H6PD	c.628-7C>A	NM_004285.3	NP_004276.2:p.?	NC_000001.10:g.9307018C>A	VUS	1 lab	fe414655ff
16:30976083 SETD1A TTCC>T	16	30976083	30976091	TTCC	T	SETD1A	c.1026_1028del	NM_014712.3	NP_055527.1:p.(Ser343del)	NC_000016.9:g.30976089_30976091del	VUS	1 lab	fdc087ff43
13:32910456 BRCA2 C>A	13	32910456	32910456	C	A	BRCA2	c.1964C>A	NM_000059.3	NP_000050.2:p.(Pro655Gln)	NC_000013.10:g.32910456C>A	(Likely) benign	1 lab	fdc08a9156
1:203143634 MYBPH G>A	1	203143634	203143634	G	A	MYBPH	c.432C>T	NM_004997.3	NP_004988.2:p.(Arg144=)	NC_000001.10:g.203143634G>A	(Likely) benign	1 lab	fdc4125804
X:129055247 UTP14A G>A	X	129055247	129055247	G	A	UTP14A	c.1032G>A	NM_006649.4	NP_006640.2:p.(Glu344=)	NC_000023.10:g.129055247G>A	(Likely) benign	1 lab	fdc556f55f
1:36941168 CSF3R C>T	1	36941168	36941168	C	T	CSF3R	c.171G>A	NM_156039.3	NP_724781.1:p.(Pro57=)	NC_000001.10:g.36941168C>T	(Likely) benign	1 lab	fdc5cbbaec
15:44965528 PATL2 G>A	15	44965528	44965528	G	A	PATL2	c.351C>T	NM_001145112.1	NP_001138584.1:p.(Ser117=)	NC_000015.9:g.44965528G>A	(Likely) benign	1 lab	fdc6afe35d
14:68264948 ZFYVE26 TC>T	14	68264948	68264950	TC	T	ZFYVE26	c.2030del	NM_015346.4	NP_056161.2:p.(Gly677AspfsTer9)	NC_000014.8:g.68264950del	(Likely) pathogenic	1 lab	fdc70b6766
X:100490928 DRP2 G>A	X	100490928	100490928	G	A	DRP2	c.197G>A	NM_001939.2	NP_001930.2:p.(Gly66Glu)	NC_000023.10:g.100490928G>A	VUS	1 lab	fdc87befe5
2:136872583 CXCR4 A>T	2	136872583	136872583	A	T	CXCR4	c.927T>A	NM_001008540.2	NP_001008540.1:p.(Leu309=)	NC_000002.11:g.136872583A>T	VUS	1 lab	fdc934222b
6:138629921 ARFGEF3 A>G	6	138629921	138629921	A	G	ARFGEF3	c.4019A>G	NM_020340.5	NP_065073.3:p.(Asn1340Ser)	NC_000006.11:g.138629921A>G	(Likely) benign	1 lab	fdcb9d1d45
17:42428833 GRN C>A	17	42428833	42428833	C	A	GRN	c.933+5C>A	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42428833C>A	(Likely) benign	1 lab	fdcc3cef6d
1:237580403 RYR2 A>G	1	237580403	237580403	A	G	RYR2	c.828A>G	NM_001035.2	NP_001026.2:p.(Arg276=)	NC_000001.10:g.237580403A>G	(Likely) benign	1 lab	fdcc4786ea
1:150532595 ADAMTSL4 G>A	1	150532595	150532595	G	A	ADAMTSL4	c.3217G>A	NM_001288608.1	NP_001275537.1:p.(Val1073Ile)	NC_000001.10:g.150532595G>A	VUS	1 lab	fdcc4fdca0
14:101348269 RTL1 C>A	14	101348269	101348269	C	A	RTL1	c.2857G>T	NM_001134888.2	NP_001128360.1:p.(Asp953Tyr)	NC_000014.8:g.101348269C>A	VUS	1 lab	fdcc58eafb
X:77268609 ATP7A G>A	X	77268609	77268609	G	A	ATP7A	c.2406G>A	NM_000052.6	NP_000043.4:p.(Lys802=)	NC_000023.10:g.77268609G>A	VUS	1 lab	fdcce49063
X:57618785 ZXDB G>A	X	57618785	57618785	G	A	ZXDB	c.304G>A	NM_007157.3	NP_009088.1:p.(Gly102Ser)	NC_000023.10:g.57618785G>A	(Likely) benign	1 lab	fdcd69ec36
1:236900446 ACTN2 T>C	1	236900446	236900446	T	C	ACTN2	c.808T>C	NM_001103.3	NP_001094.1:p.(Cys270Arg)	NC_000001.10:g.236900446T>C	VUS	1 lab	fdcf7e946f
15:51766538 DMXL2 T>C	15	51766538	51766538	T	C	DMXL2	c.7213+3A>G	NM_001174116.1	NP_001167587.1:p.?	NC_000015.9:g.51766538T>C	VUS	1 lab	fdd14a6b8a
2:207014655 NDUFS1 AGT>A	2	207014655	207014657	AGT	A	NDUFS1	c.154-8_154-7del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014656_207014657del	(Likely) benign	1 lab	fdd26155e7
16:15820753 MYH11 A>G	16	15820753	15820753	A	G	MYH11	c.3831T>C	NM_001040113.1	NP_001035202.1:p.(Asp1277=)	NC_000016.9:g.15820753A>G	(Likely) benign	1 lab	fdd284e9ae
1:235972304 LYST T>G	1	235972304	235972304	T	G	LYST	c.1814A>C	NM_001301365.1	NP_001288294.1:p.(Lys605Thr)	NC_000001.10:g.235972304T>G	VUS	1 lab	fdd419c8ca
18:67860719 RTTN T>C	18	67860719	67860719	T	C	RTTN	c.842-30A>G	NM_173630.3	NP_775901.3:p.?	NC_000018.9:g.67860719T>C	(Likely) benign	1 lab	fdda5b2b18
2:234263189 DGKD C>G	2	234263189	234263189	C	G	DGKD	c.25C>G	NM_152879.2	NP_690618.2:p.(Pro9Ala)	NC_000002.11:g.234263189C>G	VUS	1 lab	fdda90d6f5
16:2160682 PKD1 C>T	16	2160682	2160682	C	T	PKD1	c.4486G>A	NM_001009944.2	NP_001009944.2:p.(Ala1496Thr)	NC_000016.9:g.2160682C>T	(Likely) benign	1 lab	fddaec5fdf
X:133379415 CCDC160 T>C	X	133379415	133379415	T	C	CCDC160	c.585T>C	NM_001353453.1	NP_001340382.1:p.(Asp195=)	NC_000023.10:g.133379415T>C	(Likely) benign	1 lab	fddb649248
X:53231092 KDM5C C>T	X	53231092	53231092	C	T	KDM5C	c.1810G>A	NM_004187.3	NP_004178.2:p.(Gly604Ser)	NC_000023.10:g.53231092C>T	VUS	1 lab	fddbe2a1b8
19:7607714 PNPLA6 C>T	19	7607714	7607714	C	T	PNPLA6	c.1457C>T	NM_001166111.1	NP_001159583.1:p.(Ser486Leu)	NC_000019.9:g.7607714C>T	VUS	1 lab	fddca4a80a
10:70775565 KIFBP T>C	10	70775565	70775565	T	C	KIFBP	c.1259T>C	NM_015634.3	NP_056449.1:p.(Ile420Thr)	NC_000010.10:g.70775565T>C	VUS	1 lab	fdddc3fb80
9:43884985 MISSING C>T	9	43884985	43884985	C	T	MISSING				NC_000009.11:g.43884985C>T	VUS	1 lab	fdde714d4b
2:74762809 LOXL3 C>T	2	74762809	74762809	C	T	LOXL3	c.1322G>A	NM_032603.4	NP_115992.1:p.(Arg441His)	NC_000002.11:g.74762809C>T	VUS	1 lab	fde1648ce1
11:67759034 UNC93B1 C>T	11	67759034	67759034	C	T	UNC93B1	c.1777G>A	NM_030930.2	NP_112192.2:p.(Gly593Arg)	NC_000011.9:g.67759034C>T	VUS	1 lab	fde3b1fa31
11:76868053 MYO7A G>A	11	76868053	76868053	G	A	MYO7A	c.735+3G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76868053G>A	(Likely) benign	1 lab	fde4759bc1
1:160260464 COPA G>A	1	160260464	160260464	G	A	COPA	c.3460C>T	NM_001098398.2	NP_001091868.1:p.(Leu1154=)	NC_000001.10:g.160260464G>A	(Likely) benign	1 lab	fde8088f7d
16:3799633 CREBBP G>A	16	3799633	3799633	G	A	CREBBP	c.3831C>T	NM_004380.2	NP_004371.2:p.(Pro1277=)	NC_000016.9:g.3799633G>A	(Likely) benign	1 lab	fde8af7bfc
18:13885200 MC2R G>A	18	13885200	13885200	G	A	MC2R	c.318C>T	NM_001291911.1	NP_001278840.1:p.(Ile106=)	NC_000018.9:g.13885200G>A	(Likely) benign	1 lab	fdedcf3bf2
19:22362758 ZNF676 A>T	19	22362758	22362758	A	T	ZNF676	c.1761T>A	NM_001001411.2	NP_001001411.2:p.(Asn587Lys)	NC_000019.9:g.22362758A>T	(Likely) benign	1 lab	fdf00426df
19:47259153 FKRP G>A	19	47259153	47259153	G	A	FKRP	c.446G>A	NM_001039885.2	NP_001034974.1:p.(Arg149His)	NC_000019.9:g.47259153G>A	VUS	1 lab	fdf23d78d0
15:62214726 VPS13C G>A	15	62214726	62214726	G	A	VPS13C	c.6845C>T	NM_001018088.2	NP_001018098.1:p.(Ser2282Phe)	NC_000015.9:g.62214726G>A	VUS	1 lab	fdf36a1180
10:124810704 ACADSB TAAA>T	10	124810704	124810728	TAAA	T	ACADSB	c.1128+24_1128+26del	NM_001609.4	NP_001600.1:p.?	NC_000010.10:g.124810726_124810728del	(Likely) benign	1 lab	fdf488a1fb
X:102968546 TMEM31 C>A	X	102968546	102968546	C	A	TMEM31	c.127C>A	NM_182541.2	NP_872347.2:p.(Gln43Lys)	NC_000023.10:g.102968546C>A	(Likely) benign	1 lab	fdf8d4f62b
17:76134198 TMC8 G>A	17	76134198	76134198	G	A	TMC8	c.1462G>A	NM_152468.4	NP_689681.2:p.(Gly488Ser)	NC_000017.10:g.76134198G>A	(Likely) benign	1 lab	fe001c10a0
3:195518033 MUC4 T>C	3	195518033	195518033	T	C	MUC4	c.418A>G	NM_018406.6	NP_060876.5:p.(Met140Val)	NC_000003.11:g.195518033T>C	(Likely) benign	1 lab	fe0124c3fc
17:41245945 BRCA1 C>T	17	41245945	41245945	C	T	BRCA1	c.1603G>A	NM_007294.3	NP_009225.1:p.(Gly535Arg)	NC_000017.10:g.41245945C>T	VUS	1 lab	fe020a6a1f
6:2680452 MYLK4 T>C	6	2680452	2680452	T	C	MYLK4	c.758+3A>G	NM_001012418.4	NP_001012418.2:p.?	NC_000006.11:g.2680452T>C	VUS	1 lab	fe04dbc0f6
12:122958391 ZCCHC8 C>A	12	122958391	122958391	C	A	ZCCHC8	c.1777G>T	NM_017612.4	NP_060082.2:p.(Ala593Ser)	NC_000012.11:g.122958391C>A	(Likely) benign	1 lab	fe05c198f4
11:103126263 DYNC2H1 G>A	11	103126263	103126263	G	A	DYNC2H1	c.10347G>A	NM_001080463.1	NP_001073932.1:p.(Glu3449=)	NC_000011.9:g.103126263G>A	(Likely) pathogenic	1 lab	fe06b07f54
X:151935701 MAGEA3 T>C	X	151935701	151935701	T	C	MAGEA3	c.466A>G	NM_005362.3	NP_005353.1:p.(Ser156Gly)	NC_000023.10:g.151935701T>C	(Likely) benign	1 lab	fe079eeb86
X:54264789 WNK3 G>A	X	54264789	54264789	G	A	WNK3	c.4000C>T	NM_020922.4	NP_065973.2:p.(Arg1334Trp)	NC_000023.10:g.54264789G>A	VUS	1 lab	fe09a8660c
9:135800987 TSC1 A>G	9	135800987	135800987	A	G	TSC1	c.350T>C	NM_000368.4	NP_000359.1:p.(Leu117Pro)	NC_000009.11:g.135800987A>G	(Likely) pathogenic	1 lab	fe09cdba87
X:48925368 CCDC120 C>T	X	48925368	48925368	C	T	CCDC120				NC_000023.10:g.48925368C>T	VUS	1 lab	fe0c6c8155
12:120214566 CIT A>G	12	120214566	120214566	A	G	CIT	c.1746T>C	NM_001206999.1	NP_001193928.1:p.(Ser582=)	NC_000012.11:g.120214566A>G	(Likely) benign	1 lab	fe0dbe63c1
7:2974266 CARD11 G>A	7	2974266	2974266	G	A	CARD11	c.1342-3C>T	NM_032415.5	NP_115791.3:p.?	NC_000007.13:g.2974266G>A	(Likely) benign	1 lab	fe113c7895
7:99700471 AP4M1 C>T	7	99700471	99700471	C	T	AP4M1	c.255-16C>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99700471C>T	(Likely) benign	1 lab	fe1148a237
X:39932876 BCOR T>C	X	39932876	39932876	T	C	BCOR	c.1723A>G	NM_001123385.1	NP_001116857.1:p.(Asn575Asp)	NC_000023.10:g.39932876T>C	VUS	1 lab	fe1353278c
9:117849089 TNC G>A	9	117849089	117849089	G	A	TNC	c.921C>T	NM_002160.3	NP_002151.2:p.(Gly307=)	NC_000009.11:g.117849089G>A	(Likely) benign	1 lab	fe15ca2d61
12:53205708 KRT4 G>T	12	53205708	53205708	G	T	KRT4	c.516C>A	NM_002272.3	NP_002263.3:p.(Leu172=)	NC_000012.11:g.53205708G>T	(Likely) benign	1 lab	fe15f46401
5:150886768 FAT2 G>C	5	150886768	150886768	G	C	FAT2	c.12464C>G	NM_001447.2	NP_001438.1:p.(Ser4155Cys)	NC_000005.9:g.150886768G>C	VUS	1 lab	fe1677aacf
9:135781512 TSC1 CT>C	9	135781512	135781513	CT	C	TSC1	c.1452del	NM_000368.5	NP_000359.1:p.(Glu485AsnfsTer47)	NC_000009.11:g.135781513del	(Likely) pathogenic	1 lab	fe18c275c0
6:65098636 EYS T>C	6	65098636	65098636	T	C	EYS	c.6025A>G	NM_001292009.1	NP_001278938.1:p.(Lys2009Glu)	NC_000006.11:g.65098636T>C	(Likely) benign	1 lab	fe1b4318df
X:153594582 FLNA C>T	X	153594582	153594582	C	T	FLNA	c.1239G>A	NM_001110556.2	NP_001104026.1:p.(Thr413=)	NC_000023.10:g.153594582C>T	(Likely) benign	1 lab	fe1c891dce
2:179486228 TTN C>T	2	179486228	179486228	C	T	TTN	c.45323G>A	NM_001267550.1	NP_001254479.1:p.(Arg15108Gln)	NC_000002.11:g.179486228C>T	VUS	1 lab	fe1ccbd706
3:49699677 BSN G>A	3	49699677	49699677	G	A	BSN	c.10399G>A	NM_003458.3	NP_003449.2:p.(Glu3467Lys)	NC_000003.11:g.49699677G>A	VUS	1 lab	fe200d08de
22:35723306 TOM1 G>A	22	35723306	35723306	G	A	TOM1	c.691G>A	NM_001135732.1	NP_001129204.1:p.(Val231Met)	NC_000022.10:g.35723306G>A	VUS	1 lab	fe2090ea12
6:116600895 TSPYL1 G>A	6	116600895	116600895	G	A	TSPYL1	c.99C>T	NM_003309.3	NP_003300.1:p.(Tyr33=)	NC_000006.11:g.116600895G>A	(Likely) benign	1 lab	fe2215e21d
1:22202171 HSPG2 C>T	1	22202171	22202171	C	T	HSPG2	c.3256G>A	NM_001291860.1	NP_001278789.1:p.(Asp1086Asn)	NC_000001.10:g.22202171C>T	(Likely) benign	1 lab	fe2259c413
5:169507235 DOCK2 G>A	5	169507235	169507235	G	A	DOCK2	c.5235G>A	NM_004946.3	NP_004937.1:p.(Ala1745=)	NC_000005.9:g.169507235G>A	(Likely) benign	1 lab	fe22ece459
X:12632974 FRMPD4 C>A	X	12632974	12632974	C	A	FRMPD4	c.396C>A	NM_014728.3	NP_055543.2:p.(Pro132=)	NC_000023.10:g.12632974C>A	(Likely) benign	1 lab	fe230ca44f
14:21990897 SALL2 A>G	14	21990897	21990897	A	G	SALL2	c.2965T>C	NM_005407.2	NP_005398.2:p.(Ser989Pro)	NC_000014.8:g.21990897A>G	(Likely) benign	1 lab	fe232f22f9
5:89924637 ADGRV1 C>T	5	89924637	89924637	C	T	ADGRV1	c.1497C>T	NM_032119.4	NP_115495.3:p.(Ser499=)	NC_000005.9:g.89924637C>T	(Likely) benign	1 lab	fe245a4a50
20:3903933 PANK2 A>G	20	3903933	3903933	A	G	PANK2	c.832A>G	NM_001324191.1	NP_001311120.1:p.(Ile278Val)	NC_000020.10:g.3903933A>G	VUS	1 lab	fe25292b10
17:38975177 KRT10 C>T	17	38975177	38975177	C	T	KRT10	c.1610G>A	NM_000421.3	NP_000412.3:p.(Gly537Asp)	NC_000017.10:g.38975177C>T	(Likely) benign	1 lab	fe27421a25
12:80650113 OTOGL G>A	12	80650113	80650113	G	A	OTOGL	c.1561-4G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80650113G>A	(Likely) benign	1 lab	fe28ce1780
15:23891868 MAGEL2 T>A	15	23891868	23891868	T	A	MAGEL2	c.1022A>T	NM_019066.4	NP_061939.3:p.(Gln341Leu)	NC_000015.9:g.23891868T>A	VUS	1 lab	fe28e14e4f
22:17590323 IL17RA C>T	22	17590323	17590323	C	T	IL17RA	c.2214C>T	NM_014339.6	NP_055154.3:p.(Asp738=)	NC_000022.10:g.17590323C>T	(Likely) benign	1 lab	fe28fd4832
10:62149271 ANK3 TTTAA>T	10	62149271	62149277	TTTAA	T	ANK3	c.22_25del	NM_020987.5	NP_066267.2:p.(Leu8ArgfsTer6)	NC_000010.10:g.62149274_62149277del	(Likely) pathogenic	1 lab	fe2a0c1aa7
1:228497220 OBSCN C>T	1	228497220	228497220	C	T	OBSCN	c.15843C>T	NM_001271223.2	NP_001258152.2:p.(His5281=)	NC_000001.10:g.228497220C>T	(Likely) benign	1 lab	fe2a6fb41c
4:6279413 WFS1 C>T	4	6279413	6279413	C	T	WFS1	c.231C>T	NM_006005.3	NP_005996.2:p.(Thr77=)	NC_000004.11:g.6279413C>T	(Likely) benign	1 lab	fe2bbcb202
6:51613012 PKHD1 C>T	6	51613012	51613012	C	T	PKHD1	c.9402G>A	NM_138694.3	NP_619639.3:p.(Lys3134=)	NC_000006.11:g.51613012C>T	(Likely) benign	1 lab	fe2c0ad741
12:52162754 SCN8A C>T	12	52162754	52162754	C	T	SCN8A	c.3007C>T	NM_001330260.1	NP_001317189.1:p.(Arg1003Cys)	NC_000012.11:g.52162754C>T	VUS	1 lab	fe2c5f2712
X:124454072 TEX13C A>G	X	124454072	124454072	A	G	TEX13C	c.104A>G	NM_001195272.2	NP_001182201.1:p.(Tyr35Cys)	NC_000023.10:g.124454072A>G	(Likely) benign	1 lab	fe2e36bcf5
3:195594250 TNK2 T>C	3	195594250	195594250	T	C	TNK2	c.2874A>G	NM_005781.4	NP_005772.3:p.(Pro958=)	NC_000003.11:g.195594250T>C	(Likely) benign	1 lab	fe2e62d3c5
1:203017722 PPFIA4 G>A	1	203017722	203017722	G	A	PPFIA4	c.1236G>A	NM_001304331.1	NP_001291260.1:p.(Arg412=)	NC_000001.10:g.203017722G>A	(Likely) benign	1 lab	fe31e34377
X:101382397 TCEAL2 C>T	X	101382397	101382397	C	T	TCEAL2	c.595C>T	NM_080390.3	NP_525129.1:p.(Gln199Ter)	NC_000023.10:g.101382397C>T	VUS	1 lab	fe33c2634f
9:32987822 APTX A>G	9	32987822	32987822	A	G	APTX	c.203T>C	NM_175073.2	NP_778243.1:p.(Ile68Thr)	NC_000009.11:g.32987822A>G	VUS	1 lab	fe341eb522
3:38050540 PLCD1 G>C	3	38050540	38050540	G	C	PLCD1	c.1779C>G	NM_001130964.1	NP_001124436.1:p.(Cys593Trp)	NC_000003.11:g.38050540G>C	VUS	1 lab	fe347ac888
11:67401678 TBX10 C>CA	11	67401678	67401679	C	CA	TBX10	c.530dup	NM_005995.4	NP_005986.2:p.(Leu178AlafsTer3)	NC_000011.9:g.67401679dup	VUS	1 lab	fe36298f52
19:10394725 ICAM1 C>G	19	10394725	10394725	C	G	ICAM1	c.654C>G	NM_000201.2	NP_000192.2:p.(Pro218=)	NC_000019.9:g.10394725C>G	(Likely) benign	1 lab	fe365865d9
16:28948799 CD19 G>A	16	28948799	28948799	G	A	CD19	c.1327G>A	NM_001178098.1	NP_001171569.1:p.(Glu443Lys)	NC_000016.9:g.28948799G>A	VUS	1 lab	fe36aaa5ff
19:4544175 SEMA6B A>G	19	4544175	4544175	A	G	SEMA6B	c.2105T>C	NM_032108.4	NP_115484.2:p.(Leu702Pro)	NC_000019.9:g.4544175A>G	VUS	1 lab	fe388a8bc8
17:40715042 COASY G>T	17	40715042	40715042	G	T	COASY	c.402G>T	NM_025233.6	NP_079509.5:p.(Val134=)	NC_000017.10:g.40715042G>T	(Likely) benign	1 lab	fe3e816363
15:45457064 DUOX1 C>T	15	45457064	45457064	C	T	DUOX1	c.4621C>T	NM_017434.4	NP_059130.2:p.(Arg1541Trp)	NC_000015.9:g.45457064C>T	VUS	1 lab	fe3e8ea3bb
3:15686008 BTD C>T	3	15686008	15686008	C	T	BTD	c.645C>T	NM_000060.4	NP_000051.1:p.(Leu215=)	NC_000003.11:g.15686008C>T	(Likely) benign	1 lab	fe3e9f15d6
6:56504757 DST T>C	6	56504757	56504757	T	C	DST	c.2490A>G	NM_001144769.2	NP_001138241.1:p.(Glu830=)	NC_000006.11:g.56504757T>C	(Likely) benign	1 lab	fe40cab075
11:66590148 TOP6BL T>A	11	66590148	66590148	T	A	TOP6BL	c.1569+3T>A	NM_024650.3	NP_078926.3:p.?	NC_000011.9:g.66590148T>A	(Likely) benign	1 lab	fe41732fce
1:152277044 FLG A>G	1	152277044	152277044	A	G	FLG	c.10318T>C	NM_002016.1	NP_002007.1:p.(Ser3440Pro)	NC_000001.10:g.152277044A>G	(Likely) benign	1 lab	fe425052e8
10:104161009 NFKB2 C>T	10	104161009	104161009	C	T	NFKB2	c.2144C>T	NM_001288724.1	NP_001275653.1:p.(Ser715Leu)	NC_000010.10:g.104161009C>T	VUS	1 lab	fe4277db25
11:6651511 DCHS1 G>A	11	6651511	6651511	G	A	DCHS1				NC_000011.9:g.6651511G>A	VUS	1 lab	fe42da0c4c
7:100193256 FBXO24 T>C	7	100193256	100193256	T	C	FBXO24	c.1133T>C	NM_033506.3	NP_277041.1:p.(Ile378Thr)	NC_000007.13:g.100193256T>C	(Likely) benign	1 lab	fe438c9e67
1:228362625 IBA57 G>A	1	228362625	228362625	G	A	IBA57	c.574G>A	NM_001010867.3	NP_001010867.1:p.(Ala192Thr)	NC_000001.10:g.228362625G>A	(Likely) benign	1 lab	fe43e6c6a6
8:77896111 PEX2 G>T	8	77896111	77896111	G	T	PEX2	c.304C>A	NM_001172086.1	NP_001165557.1:p.(Gln102Lys)	NC_000008.10:g.77896111G>T	VUS	1 lab	fe43f7f10d
16:21147693 DNAH3 C>T	16	21147693	21147693	C	T	DNAH3	c.751G>A	NM_001347886.1	NP_001334815.1:p.(Val251Met)	NC_000016.9:g.21147693C>T	VUS	1 lab	fe44270970
8:38318617 FGFR1 G>GC	8	38318617	38318619	G	GC	FGFR1	c.7dup	NM_001174067.1	NP_001167538.1:p.(Ala3GlyfsTer27)	NC_000008.10:g.38318619dup	VUS	1 lab	fe451e7770
X:102005307 GPRASP3 A>G	X	102005307	102005307	A	G	GPRASP3	c.1384A>G	NM_001142524.2	NP_001135996.1:p.(Asn462Asp)	NC_000023.10:g.102005307A>G	VUS	1 lab	fe46e3ca3d
X:49082490 CACNA1F C>T	X	49082490	49082490	C	T	CACNA1F	c.1565G>A	NM_005183.3	NP_005174.2:p.(Cys522Tyr)	NC_000023.10:g.49082490C>T	VUS	1 lab	fe48522f68
5:135388800 TGFBI C>T	5	135388800	135388800	C	T	TGFBI	c.1118C>T	NM_000358.2	NP_000349.1:p.(Pro373Leu)	NC_000005.9:g.135388800C>T	VUS	1 lab	fe4aa98a79
15:52416790 GNB5 C>A	15	52416790	52416790	C	A	GNB5	c.1056G>T	NM_016194.3	NP_057278.2:p.(Trp352Cys)	NC_000015.9:g.52416790C>A	VUS	1 lab	fe4afd200a
16:69905821 WWP2 G>C	16	69905821	69905821	G	C	WWP2	c.690G>C	NM_007014.4	NP_008945.2:p.(Leu230Phe)	NC_000016.9:g.69905821G>C	(Likely) benign	1 lab	fe4ccc7b08
12:133198293 P2RX2 C>T	12	133198293	133198293	C	T	P2RX2	c.1229C>T	NM_170683.3	NP_733783.1:p.(Pro410Leu)	NC_000012.11:g.133198293C>T	VUS	1 lab	fe4d95e755
X:148037615 AFF2 T>C	X	148037615	148037615	T	C	AFF2	c.2040T>C	NM_002025.3	NP_002016.2:p.(Pro680=)	NC_000023.10:g.148037615T>C	(Likely) benign	1 lab	fe4df48e5a
X:19587240 SH3KBP1 C>T	X	19587240	19587240	C	T	SH3KBP1	c.1440G>A	NM_001353891.1	NP_001340820.1:p.(Ser480=)	NC_000023.10:g.19587240C>T	(Likely) benign	1 lab	fe4e9bda80
19:34900227 PDCD2L C>T	19	34900227	34900227	C	T	PDCD2L	c.498C>T	NM_032346.2	NP_115722.1:p.(Arg166=)	NC_000019.9:g.34900227C>T	(Likely) benign	1 lab	fe51f06304
4:166259057 MSMO1 T>C	4	166259057	166259057	T	C	MSMO1	c.372T>C	NM_006745.4	NP_006736.1:p.(Asn124=)	NC_000004.11:g.166259057T>C	(Likely) benign	1 lab	fe52b7edab
17:48674220 CACNA1G C>A	17	48674220	48674220	C	A	CACNA1G	c.3194C>A	NM_018896.4	NP_061496.2:p.(Ala1065Glu)	NC_000017.10:g.48674220C>A	(Likely) benign	1 lab	fe54076be7
11:119103248 CBL C>T	11	119103248	119103248	C	T	CBL	c.286C>T	NM_005188.3	NP_005179.2:p.(Arg96Cys)	NC_000011.9:g.119103248C>T	VUS	1 lab	fe5467c638
10:79761970 POLR3A G>A	10	79761970	79761970	G	A	POLR3A	c.2344C>T	NM_007055.3	NP_008986.2:p.(Leu782=)	NC_000010.10:g.79761970G>A	(Likely) benign	1 lab	fe54b07836
2:29296628 PCARE G>A	2	29296628	29296628	G	A	PCARE	c.500C>T	NM_001029883.2	NP_001025054.1:p.(Ala167Val)	NC_000002.11:g.29296628G>A	VUS	1 lab	fe56055fee
19:7518469 ARHGEF18 G>A	19	7518469	7518469	G	A	ARHGEF18	c.934G>A	NM_015318.3	NP_056133.2:p.(Ala312Thr)	NC_000019.9:g.7518469G>A	VUS	1 lab	fe5748700e
1:197070464 ASPM T>C	1	197070464	197070464	T	C	ASPM	c.7917A>G	NM_018136.4	NP_060606.3:p.(Lys2639=)	NC_000001.10:g.197070464T>C	(Likely) benign	1 lab	fe5ba19f81
4:9270215 USP17L22 A>C	4	9270215	9270215	A	C	USP17L22	c.871A>C	NM_001256863.1	NP_001243792.1:p.(Ile291Leu)	NC_000004.11:g.9270215A>C	(Likely) benign	1 lab	fe5c43ab7f
14:105409166 AHNAK2 T>C	14	105409166	105409166	T	C	AHNAK2	c.12622A>G	NM_138420.3	NP_612429.2:p.(Lys4208Glu)	NC_000014.8:g.105409166T>C	(Likely) benign	1 lab	fe5cabb9cb
9:27561593 C9orf72 A>G	9	27561593	27561593	A	G	C9orf72	c.655T>C	NM_001256054.1	NP_001242983.1:p.(Phe219Leu)	NC_000009.11:g.27561593A>G	VUS	1 lab	fe5d36b864
X:96603283 DIAPH2 A>C	X	96603283	96603283	A	C	DIAPH2	c.3009+4A>C	NM_006729.4	NP_006720.1:p.?	NC_000023.10:g.96603283A>C	(Likely) benign	1 lab	fe5deb9383
19:17671284 COLGALT1 T>G	19	17671284	17671284	T	G	COLGALT1	c.489+10T>G	NM_024656.4	NP_078932.2:p.?	NC_000019.9:g.17671284T>G	(Likely) benign	1 lab	fe5f78a6b7
20:3211302 SLC4A11 AG>A	20	3211302	3211307	AG	A	SLC4A11	c.1283-10del	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3211307del	VUS	1 lab	fe606597db
19:50162898 IRF3 C>T	19	50162898	50162898	C	T	IRF3	c.1307G>A	NM_001197122.1	NP_001184051.1:p.(Arg436His)	NC_000019.9:g.50162898C>T	(Likely) benign	1 lab	fe6076440f
7:1028421 CYP2W1 C>T	7	1028421	1028421	C	T	CYP2W1	c.1436C>T	NM_017781.2	NP_060251.2:p.(Pro479Leu)	NC_000007.13:g.1028421C>T	(Likely) benign	1 lab	fe619e0fd2
15:93555670 CHD2 A>G	15	93555670	93555670	A	G	CHD2	c.4688A>G	NM_001271.3	NP_001262.3:p.(Glu1563Gly)	NC_000015.9:g.93555670A>G	(Likely) benign	1 lab	fe640587e5
17:29576080 NF1 CA>C	17	29576080	29576081	CA	C	NF1	c.4054del	NM_001042492.3	NP_001035957.1:p.(Ser1352ValfsTer26)	NC_000017.10:g.29576081del	(Likely) pathogenic	1 lab	fe6438c75f
20:31692627 BPIFB4 G>A	20	31692627	31692627	G	A	BPIFB4	c.1692G>A	NM_182519.2	NP_872325.2:p.(Met564Ile)	NC_000020.10:g.31692627G>A	(Likely) benign	1 lab	fe643e44be
X:48369884 PORCN A>G	X	48369884	48369884	A	G	PORCN	c.116+9A>G	NM_001282167.1	NP_001269096.1:p.?	NC_000023.10:g.48369884A>G	(Likely) benign	1 lab	fe64a26757
6:159456868 TAGAP C>G	6	159456868	159456868	C	G	TAGAP	c.2187G>C	NM_054114.4	NP_473455.2:p.(Ser729=)	NC_000006.11:g.159456868C>G	(Likely) benign	1 lab	fe65891beb
17:29654831 NF1 T>G	17	29654831	29654831	T	G	NF1	c.5520T>G	NM_000267.3	NP_000258.1:p.(Asn1840Lys)	NC_000017.10:g.29654831T>G	VUS	1 lab	fe659a4bf3
13:111121668 COL4A2 C>T	13	111121668	111121668	C	T	COL4A2	c.2200C>T	NM_001846.3	NP_001837.2:p.(Pro734Ser)	NC_000013.10:g.111121668C>T	VUS	1 lab	fe667f1548
2:179436020 TTN G>A	2	179436020	179436020	G	A	TTN	c.74839C>T	NM_001267550.1	NP_001254479.1:p.(Arg24947Cys)	NC_000002.11:g.179436020G>A	(Likely) benign	1 lab	fe6712cd84
X:3533872 PRKX G>A	X	3533872	3533872	G	A	PRKX	c.935C>T	NM_005044.4	NP_005035.1:p.(Pro312Leu)	NC_000023.10:g.3533872G>A	(Likely) benign	1 lab	fe69dcc7c9
10:103547224 MISSING A>T	10	103547224	103547224	A	T	MISSING				NC_000010.10:g.103547224A>T	(Likely) benign	1 lab	fe6a9a08f3
9:101980429 ALG2 C>T	9	101980429	101980429	C	T	ALG2	c.1038G>A	NM_033087.3	NP_149078.1:p.(Ser346=)	NC_000009.11:g.101980429C>T	(Likely) benign	1 lab	fe6ce58817
5:78181405 ARSB A>G	5	78181405	78181405	A	G	ARSB	c.1142+2T>C	NM_000046.4	NP_000037.2:p.?	NC_000005.9:g.78181405A>G	(Likely) pathogenic	1 lab	fe6d3c9b6f
6:144820481 UTRN C>G	6	144820481	144820481	C	G	UTRN	c.4682C>G	NM_007124.2	NP_009055.2:p.(Ser1561Cys)	NC_000006.11:g.144820481C>G	(Likely) benign	1 lab	fe6d7842bc
7:82595675 PCLO T>C	7	82595675	82595675	T	C	PCLO	c.3429A>G	NM_033026.5	NP_149015.2:p.(Ser1143=)	NC_000007.13:g.82595675T>C	(Likely) benign	1 lab	fe6de7fd14
1:40771440 COL9A2 C>A	1	40771440	40771440	C	A	COL9A2	c.1054G>T	NM_001852.4	NP_001843.1:p.(Gly352Cys)	NC_000001.10:g.40771440C>A	VUS	1 lab	fe6ec4012d
12:53184639 KRT3 G>A	12	53184639	53184639	G	A	KRT3	c.1553C>T	NM_057088.2	NP_476429.2:p.(Pro518Leu)	NC_000012.11:g.53184639G>A	(Likely) benign	1 lab	fe708fae0f
16:50750833 NOD2 G>A	16	50750833	50750833	G	A	NOD2	c.2578G>A	NM_022162.1	NP_071445.1:p.(Ala860Thr)	NC_000016.9:g.50750833G>A	VUS	1 lab	fe728cd12c
17:71202837 COG1 T>G	17	71202837	71202837	T	G	COG1	c.2620-10T>G	NM_018714.2	NP_061184.1:p.?	NC_000017.10:g.71202837T>G	(Likely) benign	1 lab	fe7398de49
8:144944758 EPPK1 G>A	8	144944758	144944758	G	A	EPPK1				NC_000008.10:g.144944758G>A	(Likely) benign	1 lab	fe758f92e6
15:23892044 MAGEL2 T>C	15	23892044	23892044	T	C	MAGEL2	c.846A>G	NM_019066.4	NP_061939.3:p.(Pro282=)	NC_000015.9:g.23892044T>C	(Likely) benign	1 lab	fe76f1c82b
11:6648065 DCHS1 G>T	11	6648065	6648065	G	T	DCHS1				NC_000011.9:g.6648065G>T	(Likely) benign	1 lab	fe76fcf123
X:131212682 FRMD7 T>C	X	131212682	131212682	T	C	FRMD7	c.1363A>G	NM_194277.2	NP_919253.1:p.(Asn455Asp)	NC_000023.10:g.131212682T>C	(Likely) benign	1 lab	fe770df85f
14:75537568 ZC2HC1C A>G	14	75537568	75537568	A	G	ZC2HC1C	c.292A>G	NM_024643.4	NP_078919.2:p.(Ser98Gly)	NC_000014.8:g.75537568A>G	(Likely) benign	1 lab	fe789a9010
13:20763210 GJB2 C>T	13	20763210	20763210	C	T	GJB2	c.511G>A	NM_004004.6	NP_003995.2:p.(Ala171Thr)	NC_000013.10:g.20763210C>T	(Likely) benign	1 lab	fe78af0d8c
1:201169365 IGFN1 G>A	1	201169365	201169365	G	A	IGFN1	c.459G>A	NM_001164586.1	NP_001158058.1:p.(Arg153=)	NC_000001.10:g.201169365G>A	(Likely) benign	1 lab	fe7a263cfa
6:33272371 TAPBP C>T	6	33272371	33272371	C	T	TAPBP	c.913G>A	NM_003190.4	NP_003181.3:p.(Ala305Thr)	NC_000006.11:g.33272371C>T	(Likely) benign	1 lab	fe7a2e130a
8:2017598 MYOM2 G>A	8	2017598	2017598	G	A	MYOM2	c.775G>A	NM_003970.4	NP_003961.3:p.(Val259Met)	NC_000008.10:g.2017598G>A	VUS	1 lab	fe7a7a8e2a
3:123333119 MYLK C>T	3	123333119	123333119	C	T	MYLK	c.5578G>A	NM_053025.3	NP_444253.3:p.(Asp1860Asn)	NC_000003.11:g.123333119C>T	VUS	1 lab	fe7a98d5f5
17:29552200 NF1 A>G	17	29552200	29552200	A	G	NF1	c.1933A>G	NM_000267.3	NP_000258.1:p.(Met645Val)	NC_000017.10:g.29552200A>G	(Likely) benign	1 lab	fe7ade3c6c
15:34628651 SLC12A6 T>C	15	34628651	34628651	T	C	SLC12A6	c.204A>G	NM_001042496.1	NP_001035961.1:p.(Pro68=)	NC_000015.9:g.34628651T>C	(Likely) benign	1 lab	fe7bde7ee9
14:74762660 ABCD4 T>C	14	74762660	74762660	T	C	ABCD4	c.565A>G	NM_020325.2	NP_064730.1:p.(Ser189Gly)	NC_000014.8:g.74762660T>C	VUS	1 lab	fe7c0f8871
5:149776062 TCOF1 C>T	5	149776062	149776062	C	T	TCOF1	c.3999C>T	NM_001135243.1	NP_001128715.1:p.(Thr1333=)	NC_000005.9:g.149776062C>T	(Likely) benign	1 lab	fe7df10cbf
13:32911345 BRCA2 T>G	13	32911345	32911345	T	G	BRCA2	c.2853T>G	NM_000059.3	NP_000050.2:p.(Leu951=)	NC_000013.10:g.32911345T>G	(Likely) benign	1 lab	fe7e7ea57e
2:62067222 FAM161A C>T	2	62067222	62067222	C	T	FAM161A	c.917G>A	NM_001201543.1	NP_001188472.1:p.(Arg306Gln)	NC_000002.11:g.62067222C>T	VUS	1 lab	fe7f89fbd3
14:77772687 POMT2 A>G	14	77772687	77772687	A	G	POMT2	c.431T>C	NM_013382.5	NP_037514.2:p.(Met144Thr)	NC_000014.8:g.77772687A>G	VUS	1 lab	fe82e65a24
5:90079020 ADGRV1 C>T	5	90079020	90079020	C	T	ADGRV1	c.13311C>T	NM_032119.4	NP_115495.3:p.(Ile4437=)	NC_000005.9:g.90079020C>T	(Likely) benign	1 lab	fe848347ec
12:57957314 KIF5A T>C	12	57957314	57957314	T	C	KIF5A	c.217+5T>C	NM_004984.3	NP_004975.2:p.?	NC_000012.11:g.57957314T>C	(Likely) benign	1 lab	fe85eeb810
X:69646263 GDPD2 G>A	X	69646263	69646263	G	A	GDPD2	c.406G>A	NM_001171192.1	NP_001164663.1:p.(Val136Met)	NC_000023.10:g.69646263G>A	VUS	1 lab	fe86096c66
17:29676226 NF1 T>A	17	29676226	29676226	T	A	NF1	c.7215T>A	NM_000267.3	NP_000258.1:p.(Cys2405Ter)	NC_000017.10:g.29676226T>A	(Likely) pathogenic	1 lab	fe861f0768
X:107978218 IRS4 C>T	X	107978218	107978218	C	T	IRS4	c.1357G>A	NM_003604.2	NP_003595.1:p.(Gly453Arg)	NC_000023.10:g.107978218C>T	(Likely) benign	1 lab	fe881f459e
X:83372071 RPS6KA6 A>G	X	83372071	83372071	A	G	RPS6KA6	c.946T>C	NM_001330512.1	NP_001317441.1:p.(Leu316=)	NC_000023.10:g.83372071A>G	(Likely) benign	1 lab	fe89650184
18:34205526 FHOD3 G>A	18	34205526	34205526	G	A	FHOD3	c.1010G>A	NM_001281740.2	NP_001268669.1:p.(Gly337Glu)	NC_000018.9:g.34205526G>A	VUS	1 lab	fe89bfe49e
2:176959317 HOXD13 TAAC>T	2	176959317	176959322	TAAC	T	HOXD13	c.894_896del	NM_000523.4	NP_000514.2:p.(Asn298del)	NC_000002.11:g.176959320_176959322del	(Likely) pathogenic	1 lab	fe89d174ea
7:107596084 LAMB1 G>A	7	107596084	107596084	G	A	LAMB1	c.2691-9C>T	NM_002291.2	NP_002282.2:p.?	NC_000007.13:g.107596084G>A	(Likely) benign	1 lab	fe8b0f2fef
2:20153693 WDR35 C>T	2	20153693	20153693	C	T	WDR35	c.1335G>A	NM_001006657.1	NP_001006658.1:p.(Ser445=)	NC_000002.11:g.20153693C>T	(Likely) benign	1 lab	fe8d8c5a61
16:72821615 ZFHX3 G>GCCA	16	72821615	72821620	G	GCCA	ZFHX3	c.10557_10559dup	NM_006885.3	NP_008816.3:p.(Gly3527dup)	NC_000016.9:g.72821618_72821620dup	VUS	1 lab	fe9063df06
2:74757348 HTRA2 T>C	2	74757348	74757348	T	C	HTRA2	c.215T>C	NM_013247.4	NP_037379.1:p.(Leu72Pro)	NC_000002.11:g.74757348T>C	(Likely) benign	1 lab	fe90f6af8d
17:42427544 GRN G>GAGTC	17	42427544	42427549	G	GAGTC	GRN	c.350-50_350-47dup	NM_002087.2	NP_002078.1:p.?	NC_000017.10:g.42427546_42427549dup	(Likely) benign	1 lab	fe912c2cff
1:152191331 HRNR C>T	1	152191331	152191331	C	T	HRNR	c.2774G>A	NM_001009931.2	NP_001009931.1:p.(Gly925Asp)	NC_000001.10:g.152191331C>T	VUS	1 lab	fe91bd8214
2:179656897 TTN C>A	2	179656897	179656897	C	A	TTN	c.1564G>T	NM_001267550.1	NP_001254479.1:p.(Val522Leu)	NC_000002.11:g.179656897C>A	VUS	1 lab	fe9203ddc8
X:153640579 TAFAZZIN G>A	X	153640579	153640579	G	A	TAFAZZIN	c.238+28G>A	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640579G>A	(Likely) benign	1 lab	fe92406a56
X:153590900 FLNA G>A	X	153590900	153590900	G	A	FLNA	c.2451C>T	NM_001110556.2	NP_001104026.1:p.(Pro817=)	NC_000023.10:g.153590900G>A	(Likely) benign	1 lab	fe93f11003
14:105411978 AHNAK2 A>C	14	105411978	105411978	A	C	AHNAK2	c.9810T>G	NM_138420.3	NP_612429.2:p.(Ser3270=)	NC_000014.8:g.105411978A>C	(Likely) benign	1 lab	fe94277fff
15:78398150 CIB2 A>C	15	78398150	78398150	A	C	CIB2	c.488T>G	NM_001301224.1	NP_001288153.1:p.(Leu163Trp)	NC_000015.9:g.78398150A>C	VUS	1 lab	fe96c7f2ac
17:80763844 TBCD C>T	17	80763844	80763844	C	T	TBCD	c.1044C>T	NM_005993.4	NP_005984.3:p.(Asp348=)	NC_000017.10:g.80763844C>T	(Likely) benign	1 lab	fe9709b55a
6:32024560 TNXB G>A	6	32024560	32024560	G	A	TNXB	c.7946C>T	NM_019105.6	NP_061978.6:p.(Thr2649Met)	NC_000006.11:g.32024560G>A	VUS	1 lab	fe98e30140
7:21742429 DNAH11 A>G	7	21742429	21742429	A	G	DNAH11				NC_000007.13:g.21742429A>G	(Likely) benign	1 lab	fe99d6cd60
6:32810483 PSMB8 GAC>G	6	32810483	32810486	GAC	G	PSMB8	c.371_372del	NM_148919.4	NP_683720.2:p.(Cys124SerfsTer54)	NC_000006.11:g.32810485_32810486del	(Likely) pathogenic	1 lab	fe9bdd4d5e
19:42880660 MEGF8 C>T	19	42880660	42880660	C	T	MEGF8	c.8271C>T	NM_001271938.2	NP_001258867.1:p.(Pro2757=)	NC_000019.9:g.42880660C>T	(Likely) benign	1 lab	fe9cfa6f6a
X:48768842 SLC35A2 C>A	X	48768842	48768842	C	A	SLC35A2	c.72G>T	NM_001282651.1	NP_001269580.1:p.(Glu24Asp)	NC_000023.10:g.48768842C>A	(Likely) benign	1 lab	fe9d7f77bd
17:36485313 GPR179 G>A	17	36485313	36485313	G	A	GPR179	c.4139C>T	NM_001004334.3	NP_001004334.3:p.(Pro1380Leu)	NC_000017.10:g.36485313G>A	VUS	1 lab	fe9dd9fcb6
22:51064090 ARSA AAGAG>A	22	51064090	51064097	AAGAG	A	ARSA	c.1123_1126del	NM_000487.6	NP_000478.3:p.(Leu375SerfsTer47)	NC_000022.10:g.51064094_51064097del	(Likely) pathogenic	1 lab	fe9ef69084
8:99142206 POP1 G>A	8	99142206	99142206	G	A	POP1	c.487G>A	NM_001145860.1	NP_001139332.1:p.(Ala163Thr)	NC_000008.10:g.99142206G>A	VUS	1 lab	fe9fa73ea4
1:197062361 ASPM G>C	1	197062361	197062361	G	C	ASPM	c.9115C>G	NM_018136.4	NP_060606.3:p.(His3039Asp)	NC_000001.10:g.197062361G>C	VUS	1 lab	fea1f68153
19:11327732 DOCK6 C>T	19	11327732	11327732	C	T	DOCK6	c.3752G>A	NM_020812.3	NP_065863.2:p.(Arg1251Gln)	NC_000019.9:g.11327732C>T	VUS	1 lab	fea20d2c4a
9:80863276 CEP78 A>G	9	80863276	80863276	A	G	CEP78	c.957+5A>G	NM_001330691.2	NP_001317620.1:p.?	NC_000009.11:g.80863276A>G	VUS	1 lab	fea3ddc76b
13:101910926 NALCN C>T	13	101910926	101910926	C	T	NALCN	c.1135-1G>A	NM_001350748.1	NP_001337677.1:p.?	NC_000013.10:g.101910926C>T	VUS	1 lab	fea5ccfade
14:32257065 NUBPL A>C	14	32257065	32257065	A	C	NUBPL	c.593A>C	NM_025152.2	NP_079428.2:p.(Asn198Thr)	NC_000014.8:g.32257065A>C	(Likely) benign	1 lab	fea8375b75
17:71199271 COG1 C>T	17	71199271	71199271	C	T	COG1	c.2206C>T	NM_018714.2	NP_061184.1:p.(Arg736Ter)	NC_000017.10:g.71199271C>T	(Likely) pathogenic	1 lab	fea87d8c87
2:29416025 ALK C>CATTG	2	29416025	29416029	C	CATTG	ALK	c.*61_*64dup	NM_004304.3	NP_004295.2:p.?	NC_000002.11:g.29416026_29416029dup	(Likely) benign	1 lab	feaa4db84b
2:220313933 SPEG C>G	2	220313933	220313933	C	G	SPEG	c.2053C>G	NM_005876.4	NP_005867.3:p.(Arg685Gly)	NC_000002.11:g.220313933C>G	VUS	1 lab	feab3bd0bc
X:149899006 MTMR1 G>T	X	149899006	149899006	G	T	MTMR1	c.694G>T	NM_001353990.1	NP_001340919.1:p.(Ala232Ser)	NC_000023.10:g.149899006G>T	VUS	1 lab	feacc579b3
X:7177559 STS C>G	X	7177559	7177559	C	G	STS	c.588C>G	NM_001320750.1	NP_001307679.1:p.(Pro196=)	NC_000023.10:g.7177559C>G	(Likely) benign	1 lab	fead819d73
14:54417049 BMP4 G>A	14	54417049	54417049	G	A	BMP4	c.928C>T	NM_001347916.1	NP_001334845.1:p.(Arg310Cys)	NC_000014.8:g.54417049G>A	VUS	1 lab	feae86ea37
16:72822645 ZFHX3 G>A	16	72822645	72822645	G	A	ZFHX3	c.9530C>T	NM_006885.3	NP_008816.3:p.(Ser3177Leu)	NC_000016.9:g.72822645G>A	(Likely) benign	1 lab	feaf6ccb2e
12:5020847 KCNA1 C>T	12	5020847	5020847	C	T	KCNA1	c.303C>T	NM_000217.3	NP_000208.2:p.(Arg101=)	NC_000012.11:g.5020847C>T	(Likely) benign	1 lab	feb05c908e
8:8239194 PRAG1 C>T	8	8239194	8239194	C	T	PRAG1	c.64G>A	NM_001080826.2	NP_001074295.2:p.(Glu22Lys)	NC_000008.10:g.8239194C>T	VUS	1 lab	feb2c29adb
3:127338055 MCM2 G>A	3	127338055	127338055	G	A	MCM2	c.2199G>A	NM_004526.3	NP_004517.2:p.(Pro733=)	NC_000003.11:g.127338055G>A	(Likely) benign	1 lab	feb395c26c
19:7707414 STXBP2 T>C	19	7707414	7707414	T	C	STXBP2	c.927T>C	NM_001272034.1	NP_001258963.1:p.(Asp309=)	NC_000019.9:g.7707414T>C	(Likely) benign	1 lab	feb41663f1
10:121429574 BAG3 C>T	10	121429574	121429574	C	T	BAG3	c.392C>T	NM_004281.3	NP_004272.2:p.(Pro131Leu)	NC_000010.10:g.121429574C>T	VUS	1 lab	feb448cff5
2:179518965 TTN G>C	2	179518965	179518965	G	C	TTN	c.38350C>G	NM_001267550.1	NP_001254479.1:p.(Pro12784Ala)	NC_000002.11:g.179518965G>C	VUS	1 lab	feb638d97d
1:156130257 SEMA4A A>G	1	156130257	156130257	A	G	SEMA4A	c.592A>G	NM_022367.4	NP_071762.2:p.(Met198Val)	NC_000001.10:g.156130257A>G	(Likely) benign	1 lab	feb702574b
20:40081493 CHD6 C>T	20	40081493	40081493	C	T	CHD6	c.3210G>A	NM_032221.4	NP_115597.3:p.(Glu1070=)	NC_000020.10:g.40081493C>T	(Likely) benign	1 lab	feb72d3b94
13:103398860 LRTM3 T>G	13	103398860	103398860	T	G	LRTM3	c.4187A>C	NM_001146197.2	NP_001139669.1:p.(Lys1396Thr)	NC_000013.10:g.103398860T>G	VUS	1 lab	febad06763
9:99064396 HSD17B3 C>G	9	99064396	99064396	C	G	HSD17B3	c.-10G>C	NM_000197.2	NP_000188.1:p.?	NC_000009.11:g.99064396C>G	(Likely) benign	1 lab	febb0aff9e
7:103629803 RELN T>TGCCGCCGCCGCCGCCGCC	7	103629803	103629829	T	TGCCGCCGCCGCCGCCGCC	RELN	c.-1_1insGGCGGCGGCGGCGGCGGC	NM_173054.2	NP_774959.1:p.(Met1?)	NC_000007.13:g.103629812_103629829dup	(Likely) benign	1 lab	febbd352b6
10:89473083 PAPSS2 A>AAAAAAAAAG	10	89473083	89473092	A	AAAAAAAAAG	PAPSS2	c.381+17_381+25dup	NM_001015880.1	NP_001015880.1:p.?	NC_000010.10:g.89473084_89473092dup	(Likely) benign	1 lab	febc8dfe15
1:214816263 CENPF T>C	1	214816263	214816263	T	C	CENPF	c.4582T>C	NM_016343.3	NP_057427.3:p.(Cys1528Arg)	NC_000001.10:g.214816263T>C	(Likely) benign	1 lab	fec3eded28
16:11001445 CIITA C>T	16	11001445	11001445	C	T	CIITA	c.2099C>T	NM_001286402.1	NP_001273331.1:p.(Pro700Leu)	NC_000016.9:g.11001445C>T	(Likely) benign	1 lab	fec4ac111e
11:61546875 MYRF C>T	11	61546875	61546875	C	T	MYRF	c.2154C>T	NM_001127392.2	NP_001120864.1:p.(Thr718=)	NC_000011.9:g.61546875C>T	(Likely) benign	1 lab	fec7b6c2f5
5:178413467 GRM6 G>A	5	178413467	178413467	G	A	GRM6	c.1788C>T	NM_000843.4	NP_000834.2:p.(Gly596=)	NC_000005.9:g.178413467G>A	(Likely) benign	1 lab	fec7f30439
15:51240239 AP4E1 T>C	15	51240239	51240239	T	C	AP4E1	c.974T>C	NM_001252127.1	NP_001239056.1:p.(Ile325Thr)	NC_000015.9:g.51240239T>C	VUS	1 lab	fec864e791
1:230841918 AGT G>A	1	230841918	230841918	G	A	AGT	c.885C>T	NM_000029.3	NP_000020.1:p.(Ala295=)	NC_000001.10:g.230841918G>A	(Likely) benign	1 lab	feca92222d
6:24667084 TDP2 A>T	6	24667084	24667084	A	T	TDP2	c.7T>A	NM_016614.2	NP_057698.2:p.(Leu3Met)	NC_000006.11:g.24667084A>T	VUS	1 lab	fecb18da6f
20:62325848 RTEL1 G>A	20	62325848	62325848	G	A	RTEL1	c.3109+7G>A	NM_001283009.1	NP_001269938.1:p.?	NC_000020.10:g.62325848G>A	(Likely) benign	1 lab	fecbaefdd5
3:142281837 ATR C>G	3	142281837	142281837	C	G	ATR	c.407G>C	NM_001184.3	NP_001175.2:p.(Ser136Thr)	NC_000003.11:g.142281837C>G	(Likely) benign	1 lab	fece0ef08a
6:161807856 PRKN G>A	6	161807856	161807856	G	A	PRKN	c.1137C>T	NM_004562.2	NP_004553.2:p.(Ala379=)	NC_000006.11:g.161807856G>A	(Likely) benign	1 lab	fece70f2e4
12:13724783 GRIN2B A>G	12	13724783	13724783	A	G	GRIN2B	c.2126T>C	NM_000834.4	NP_000825.2:p.(Phe709Ser)	NC_000012.11:g.13724783A>G	VUS	1 lab	fed0d0b06b
4:6303967 WFS1 C>G	4	6303967	6303967	C	G	WFS1	c.2445C>G	NM_006005.3	NP_005996.2:p.(Leu815=)	NC_000004.11:g.6303967C>G	(Likely) benign	1 lab	fed0ea8f9a
2:120005698 STEAP3 C>T	2	120005698	120005698	C	T	STEAP3	c.966C>T	NM_182915.2	NP_878919.2:p.(Cys322=)	NC_000002.11:g.120005698C>T	(Likely) benign	1 lab	fed3ba90a3
1:980552 AGRN G>A	1	980552	980552	G	A	AGRN				NC_000001.10:g.980552G>A	VUS	1 lab	fed3c8ccb9
14:102482267 DYNC1H1 C>T	14	102482267	102482267	C	T	DYNC1H1	c.7317C>T	NM_001376.4	NP_001367.2:p.(His2439=)	NC_000014.8:g.102482267C>T	(Likely) benign	1 lab	fed61d0ce6
1:45479660 UROD C>T	1	45479660	45479660	C	T	UROD	c.554C>T	NM_000374.5	NP_000365.3:p.(Pro185Leu)	NC_000001.10:g.45479660C>T	VUS	1 lab	fed662565e
5:73207154 ARHGEF28 A>T	5	73207154	73207154	A	T	ARHGEF28	c.4702A>T	NM_001080479.2	NP_001073948.2:p.(Asn1568Tyr)	NC_000005.9:g.73207154A>T	VUS	1 lab	fed720cb31
X:37027024 FAM47C T>C	X	37027024	37027024	T	C	FAM47C	c.541T>C	NM_001013736.2	NP_001013758.1:p.(Tyr181His)	NC_000023.10:g.37027024T>C	(Likely) benign	1 lab	fed81e9353
5:140595316 PCDHB13 C>T	5	140595316	140595316	C	T	PCDHB13	c.1621C>T	NM_018933.3	NP_061756.1:p.(Leu541=)	NC_000005.9:g.140595316C>T	(Likely) benign	1 lab	fed838fcf8
22:36661719 APOL1 T>C	22	36661719	36661719	T	C	APOL1	c.885T>C	NM_145343.2	NP_663318.1:p.(Ile295=)	NC_000022.10:g.36661719T>C	(Likely) benign	1 lab	fedb5b0075
11:58861539 GLYATL1B T>G	11	58861539	58861539	T	G	GLYATL1B	c.446T>G	NM_001355566.1	NP_001342495.1:p.(Leu149Arg)	NC_000011.9:g.58861539T>G	VUS	1 lab	fedbb350da
19:8201285 FBN3 G>A	19	8201285	8201285	G	A	FBN3	c.1332C>T	NM_032447.5	NP_115823.3:p.(Arg444=)	NC_000019.9:g.8201285G>A	(Likely) benign	1 lab	fedbc0e41b
19:1491330 REEP6 T>C	19	1491330	1491330	T	C	REEP6	c.62T>C	NM_001329556.2	NP_001316485.1:p.(Val21Ala)	NC_000019.9:g.1491330T>C	(Likely) benign	1 lab	fedd99c2bf
11:108198551 ATM G>T	11	108198551	108198551	G	T	ATM	c.7089+66G>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198551G>T	VUS	1 lab	025312f8ac
X:63411522 AMER1 G>T	X	63411522	63411522	G	T	AMER1	c.1645C>A	NM_152424.4	NP_689637.3:p.(Arg549=)	NC_000023.10:g.63411522G>T	(Likely) benign	1 lab	feddb66094
17:78090932 GAA T>C	17	78090932	78090932	T	C	GAA	c.2331+24T>C	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78090932T>C	(Likely) benign	1 lab	fee1f3180a
6:112476870 LAMA4 T>TG	6	112476870	112476871	T	TG	LAMA4	c.1855_1856insC	NM_001105206.2	NP_001098676.2:p.(Lys619ThrfsTer10)	NC_000006.11:g.112476870_112476871insG	VUS	1 lab	fee2d1654b
17:37421692 FBXL20 T>TACACTGTGCTATAGAAA	17	37421692	37421693	T	TACACTGTGCTATAGAAA	FBXL20	c.947_948insTTTCTATAGCACAGTGT	NM_032875.3	NP_116264.2:p.(Leu317PhefsTer7)	NC_000017.10:g.37421692_37421693insACACTGTGCTATAGAAA	VUS	1 lab	fee2f846ed
17:5462638 NLRP1 TC>T	17	5462638	5462640	TC	T	NLRP1	c.1377del	NM_033004.4	NP_127497.1:p.(Thr460ProfsTer17)	NC_000017.10:g.5462640del	VUS	1 lab	fee33673d9
22:32253452 DEPDC5 A>G	22	32253452	32253452	A	G	DEPDC5	c.3177A>G	NM_001242896.2	NP_001229825.1:p.(Ala1059=)	NC_000022.10:g.32253452A>G	(Likely) benign	1 lab	fee3c7f848
7:26386074 SNX10 A>G	7	26386074	26386074	A	G	SNX10	c.12A>G	NM_001199835.1	NP_001186764.1:p.(Glu4=)	NC_000007.13:g.26386074A>G	(Likely) benign	1 lab	fee3f9cfb3
3:46008647 FYCO1 G>T	3	46008647	46008647	G	T	FYCO1	c.2179C>A	NM_024513.3	NP_078789.2:p.(His727Asn)	NC_000003.11:g.46008647G>T	(Likely) benign	1 lab	fee505c08b
9:139391294 NOTCH1 G>A	9	139391294	139391294	G	A	NOTCH1	c.6897C>T	NM_017617.5	NP_060087.3:p.(Gly2299=)	NC_000009.11:g.139391294G>A	VUS	1 lab	fee5dd2b40
12:103288566 PAH T>C	12	103288566	103288566	T	C	PAH	c.299A>G	NM_000277.1	NP_000268.1:p.(His100Arg)	NC_000012.11:g.103288566T>C	(Likely) benign	1 lab	fee5ebc7d7
X:49081390 CACNA1F G>A	X	49081390	49081390	G	A	CACNA1F	c.1743C>T	NM_005183.3	NP_005174.2:p.(Tyr581=)	NC_000023.10:g.49081390G>A	(Likely) benign	1 lab	fee65575c5
X:47489062 CFP C>T	X	47489062	47489062	C	T	CFP	c.88G>A	NM_002621.2	NP_002612.1:p.(Val30Met)	NC_000023.10:g.47489062C>T	(Likely) benign	1 lab	fee7f81c5d
9:34241601 UBAP1 C>T	9	34241601	34241601	C	T	UBAP1	c.578C>T	NM_001171203.2	NP_001164674.1:p.(Ala193Val)	NC_000009.11:g.34241601C>T	VUS	1 lab	fee81b5940
3:45942420 CCR9 C>T	3	45942420	45942420	C	T	CCR9	c.104C>T	NM_001256369.1	NP_001243298.1:p.(Ala35Val)	NC_000003.11:g.45942420C>T	VUS	1 lab	fee84d7b5e
21:27284147 APP C>T	21	27284147	27284147	C	T	APP	c.1815G>A	NM_000484.3	NP_000475.1:p.(Glu605=)	NC_000021.8:g.27284147C>T	(Likely) benign	1 lab	fee9aee264
10:94376537 KIF11 TATTGAATA>T	10	94376537	94376546	TATTGAATA	T	KIF11	c.1078_1085del	NM_004523.4	NP_004514.2:p.(Leu360AlafsTer2)	NC_000010.10:g.94376539_94376546del	(Likely) pathogenic	1 lab	feea52f37d
9:137711979 COL5A1 C>A	9	137711979	137711979	C	A	COL5A1	c.4464C>A	NM_000093.4	NP_000084.3:p.(Ile1488=)	NC_000009.11:g.137711979C>A	(Likely) benign	1 lab	feecfb806f
16:2161262 PKD1 G>A	16	2161262	2161262	G	A	PKD1	c.3906C>T	NM_001009944.2	NP_001009944.2:p.(Ala1302=)	NC_000016.9:g.2161262G>A	(Likely) benign	1 lab	fef081a346
12:49425871 KMT2D G>A	12	49425871	49425871	G	A	KMT2D	c.12617C>T	NM_003482.3	NP_003473.3:p.(Ala4206Val)	NC_000012.11:g.49425871G>A	VUS	1 lab	fef1c0c70a
6:158534621 SERAC1 G>C	6	158534621	158534621	G	C	SERAC1	c.1688C>G	NM_032861.3	NP_116250.3:p.(Ser563Cys)	NC_000006.11:g.158534621G>C	VUS	1 lab	fef35ca246
9:74586479 C9orf85 G>A	9	74586479	74586479	G	A	C9orf85	c.268G>A	NM_182505.5	NP_872311.2:p.(Ala90Thr)	NC_000009.11:g.74586479G>A	VUS	1 lab	fef3918d2c
11:69633624 FGF3 C>T	11	69633624	69633624	C	T	FGF3				NC_000011.9:g.69633624C>T	(Likely) benign	1 lab	fef474b262
19:55264028 MISSING G>A	19	55264028	55264028	G	A	MISSING				NC_000019.9:g.55264028G>A	(Likely) benign	1 lab	fef56c5802
21:46066851 KRTAP10-11 C>T	21	46066851	46066851	C	T	KRTAP10-11	c.476C>T	NM_198692.2	NP_941965.2:p.(Ser159Phe)	NC_000021.8:g.46066851C>T	VUS	1 lab	fef5708683
10:128192523 C10orf90 C>T	10	128192523	128192523	C	T	C10orf90	c.1534+3G>A	NM_001350921.1	NP_001337850.1:p.?	NC_000010.10:g.128192523C>T	(Likely) benign	1 lab	fef78e4a74
1:26392830 TRIM63 G>A	1	26392830	26392830	G	A	TRIM63	c.261C>T	NM_032588.3	NP_115977.2:p.(His87=)	NC_000001.10:g.26392830G>A	(Likely) benign	1 lab	fef81b0276
X:135429469 ADGRG4 A>G	X	135429469	135429469	A	G	ADGRG4	c.3604A>G	NM_153834.3	NP_722576.3:p.(Thr1202Ala)	NC_000023.10:g.135429469A>G	(Likely) benign	1 lab	fef86e67b6
3:189705412 P3H2 T>C	3	189705412	189705412	T	C	P3H2	c.1002A>G	NM_018192.4	NP_060662.2:p.(Leu334=)	NC_000003.11:g.189705412T>C	(Likely) benign	1 lab	fef891cc23
16:74339617 PSMD7 AAGG>A	16	74339617	74339622	AAGG	A	PSMD7	c.964_966del	NM_002811.5	NP_002802.2:p.(Glu322del)	NC_000016.9:g.74339620_74339622del	VUS	1 lab	fef9569790
2:74757864 HTRA2 A>G	2	74757864	74757864	A	G	HTRA2	c.627A>G	NM_013247.4	NP_037379.1:p.(Arg209=)	NC_000002.11:g.74757864A>G	(Likely) benign	1 lab	fef96ff987
16:90102845 DRC4 C>T	16	90102845	90102845	C	T	DRC4	c.358C>T	NM_001286205.1	NP_001273134.1:p.(Arg120Trp)	NC_000016.9:g.90102845C>T	VUS	1 lab	fef9b94879
1:8424171 RERE T>TC	1	8424171	8424172	T	TC	RERE	c.1684dup	NM_012102.3	NP_036234.3:p.(Glu562GlyfsTer3)	NC_000001.10:g.8424172dup	VUS	1 lab	fefa2c306b
22:38121939 TRIOBP C>T	22	38121939	38121939	C	T	TRIOBP	c.3376C>T	NM_001039141.2	NP_001034230.1:p.(Pro1126Ser)	NC_000022.10:g.38121939C>T	VUS	1 lab	fefa4e423e
3:189838320 P3H2 C>T	3	189838320	189838320	C	T	P3H2	c.201G>A	NM_018192.4	NP_060662.2:p.(Leu67=)	NC_000003.11:g.189838320C>T	(Likely) benign	1 lab	fefa5d486f
17:79503824 FSCN2 CGGGGCGGGTGGGCACGCG>C	17	79503824	79503844	CGGGGCGGGTGGGCACGCG	C	FSCN2	c.1273+12_1273+29del	NM_012418.4	NP_036550.1:p.?	NC_000017.10:g.79503827_79503844del	(Likely) benign	1 lab	fefa89a41a
16:1568268 IFT140 G>A	16	1568268	1568268	G	A	IFT140	c.4131C>T	NM_014714.3	NP_055529.2:p.(Asp1377=)	NC_000016.9:g.1568268G>A	(Likely) benign	1 lab	fefae0dd20
10:21940613 MLLT10 G>A	10	21940613	21940613	G	A	MLLT10	c.711G>A	NM_004641.3	NP_004632.1:p.(Glu237=)	NC_000010.10:g.21940613G>A	(Likely) benign	1 lab	fefc2282a5
19:47980182 KPTN G>A	19	47980182	47980182	G	A	KPTN	c.877C>T	NM_007059.3	NP_008990.2:p.(Arg293Trp)	NC_000019.9:g.47980182G>A	(Likely) benign	1 lab	fefc3cbe4b
1:169347732 BLZF1 G>C	1	169347732	169347732	G	C	BLZF1	c.633G>C	NM_003666.3	NP_003657.1:p.(Gln211His)	NC_000001.10:g.169347732G>C	VUS	1 lab	fefda736bf
15:62241691 VPS13C G>A	15	62241691	62241691	G	A	VPS13C	c.4710C>T	NM_001018088.2	NP_001018098.1:p.(Ser1570=)	NC_000015.9:g.62241691G>A	(Likely) benign	1 lab	fefeeefc79
6:157256625 ARID1B C>G	6	157256625	157256625	C	G	ARID1B	c.1913C>G	NM_001346813.1	NP_001333742.1:p.(Thr638Ser)	NC_000006.11:g.157256625C>G	(Likely) benign	1 lab	feffc8dfa4
3:48621469 COL7A1 C>T	3	48621469	48621469	C	T	COL7A1	c.4223G>A	NM_000094.3	NP_000085.1:p.(Arg1408Gln)	NC_000003.11:g.48621469C>T	VUS	1 lab	ff000f4755
12:56428612 IKZF4 C>T	12	56428612	56428612	C	T	IKZF4	c.1255C>T	NM_022465.4	NP_071910.3:p.(Arg419Ter)	NC_000012.11:g.56428612C>T	VUS	1 lab	ff018a05ef
4:47605455 CORIN G>A	4	47605455	47605455	G	A	CORIN	c.2771C>T	NM_006587.3	NP_006578.2:p.(Thr924Met)	NC_000004.11:g.47605455G>A	VUS	1 lab	ff01aac8f9
5:37183650 CPLANE1 G>A	5	37183650	37183650	G	A	CPLANE1	c.4633C>T	NM_023073.3	NP_075561.3:p.(Arg1545Cys)	NC_000005.9:g.37183650G>A	VUS	1 lab	ff034512ea
2:25965042 ASXL2 G>A	2	25965042	25965042	G	A	ASXL2	c.4164C>T	NM_018263.5	NP_060733.4:p.(Ser1388=)	NC_000002.11:g.25965042G>A	(Likely) benign	1 lab	ff03682a49
20:19956311 RIN2 G>A	20	19956311	19956311	G	A	RIN2	c.1789G>A	NM_001242581.1	NP_001229510.1:p.(Val597Met)	NC_000020.10:g.19956311G>A	VUS	1 lab	ff04cbf732
18:6971910 LAMA1 A>G	18	6971910	6971910	A	G	LAMA1	c.6845T>C	NM_005559.3	NP_005550.2:p.(Ile2282Thr)	NC_000018.9:g.6971910A>G	VUS	1 lab	ff04dfd9a0
11:76869443 MYO7A G>T	11	76869443	76869443	G	T	MYO7A	c.970G>T	NM_000260.3	NP_000251.3:p.(Ala324Ser)	NC_000011.9:g.76869443G>T	VUS	1 lab	ff079626e5
8:25341506 CDCA2 C>G	8	25341506	25341506	C	G	CDCA2	c.1100C>G	NM_001317906.1	NP_001304835.1:p.(Pro367Arg)	NC_000008.10:g.25341506C>G	(Likely) benign	1 lab	ff0b394f65
16:27784469 KATNIP C>T	16	27784469	27784469	C	T	KATNIP	c.4248C>T	NM_015202.3	NP_056017.3:p.(Ile1416=)	NC_000016.9:g.27784469C>T	(Likely) benign	1 lab	ff0c8e9089
1:215824093 USH2A G>A	1	215824093	215824093	G	A	USH2A	c.14184C>T	NM_206933.2	NP_996816.2:p.(Cys4728=)	NC_000001.10:g.215824093G>A	(Likely) benign	1 lab	ff0df58f21
13:60558028 DIAPH3 C>G	13	60558028	60558028	C	G	DIAPH3	c.1362-7G>C	NM_001042517.1	NP_001035982.1:p.?	NC_000013.10:g.60558028C>G	(Likely) benign	1 lab	ff105add4c
10:103827447 HPS6 T>C	10	103827447	103827447	T	C	HPS6	c.2216T>C	NM_024747.5	NP_079023.2:p.(Leu739Pro)	NC_000010.10:g.103827447T>C	VUS	1 lab	ff11c6237b
15:25585310 UBE3A G>A	15	25585310	25585310	G	A	UBE3A	c.2429C>T	NM_000462.5	NP_000453.2:p.(Thr810Met)	NC_000015.9:g.25585310G>A	VUS	1 lab	ff120df34c
11:17667187 OTOG C>T	11	17667187	17667187	C	T	OTOG	c.8574C>T	NM_001277269.1	NP_001264198.1:p.(Thr2858=)	NC_000011.9:g.17667187C>T	(Likely) benign	1 lab	ff12bd7fd4
12:6127557 VWF T>TGCAGCCCCTCTCCGGA	12	6127557	6127578	T	TGCAGCCCCTCTCCGGA	VWF	c.5011_5026dup	NM_000552.3	NP_000543.2:p.(Gln1676LeufsTer15)	NC_000012.11:g.6127563_6127578dup	(Likely) pathogenic	1 lab	ff12e62fc2
16:53705440 RPGRIP1L T>C	16	53705440	53705440	T	C	RPGRIP1L	c.1085A>G	NM_015272.4	NP_056087.2:p.(Tyr362Cys)	NC_000016.9:g.53705440T>C	(Likely) benign	1 lab	ff162bc9f6
1:29641960 PTPRU G>A	1	29641960	29641960	G	A	PTPRU	c.3334G>A	NM_005704.4	NP_005695.3:p.(Asp1112Asn)	NC_000001.10:g.29641960G>A	VUS	1 lab	ff1655d981
9:34512417 DNAI1 C>T	9	34512417	34512417	C	T	DNAI1	c.1496C>T	NM_001281428.1	NP_001268357.1:p.(Pro499Leu)	NC_000009.11:g.34512417C>T	VUS	1 lab	ff168bee57
17:38447570 CDC6 G>T	17	38447570	38447570	G	T	CDC6	c.439G>T	NM_001254.4	NP_001245.1:p.(Val147Leu)	NC_000017.10:g.38447570G>T	(Likely) benign	1 lab	ff171dc223
6:26107979 H1-6 C>T	6	26107979	26107979	C	T	H1-6	c.343G>A	NM_005323.3	NP_005314.2:p.(Val115Met)	NC_000006.11:g.26107979C>T	(Likely) benign	1 lab	ff1806a6ac
X:135077031 SLC9A6 A>G	X	135077031	135077031	A	G	SLC9A6	c.412A>G	NM_001042537.1	NP_001036002.1:p.(Ser138Gly)	NC_000023.10:g.135077031A>G	(Likely) benign	1 lab	ff19c94306
16:2129567 TSC2 C>T	16	2129567	2129567	C	T	TSC2	c.3294C>T	NM_000548.3	NP_000539.2:p.(Pro1098=)	NC_000016.9:g.2129567C>T	(Likely) benign	1 lab	ff1a400a42
19:1207203 STK11 G>C	19	1207203	1207203	G	C	STK11	c.290+1G>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1207203G>C	(Likely) pathogenic	1 lab	ff1a77f167
11:65319803 LTBP3 T>G	11	65319803	65319803	T	G	LTBP3	c.1261A>C	NM_001130144.2	NP_001123616.1:p.(Thr421Pro)	NC_000011.9:g.65319803T>G	VUS	1 lab	ff1a880859
X:63548731 MTMR8 G>A	X	63548731	63548731	G	A	MTMR8	c.1402C>T	NM_017677.3	NP_060147.2:p.(Pro468Ser)	NC_000023.10:g.63548731G>A	(Likely) benign	1 lab	ff1af8d18c
22:43618669 SCUBE1 G>C	22	43618669	43618669	G	C	SCUBE1	c.1407C>G	NM_173050.3	NP_766638.2:p.(Ser469Arg)	NC_000022.10:g.43618669G>C	VUS	1 lab	ff1e0ed063
X:77131104 MAGT1 A>G	X	77131104	77131104	A	G	MAGT1	c.199-10T>C	NM_032121.5	NP_115497.4:p.?	NC_000023.10:g.77131104A>G	(Likely) benign	1 lab	ff1f8324bd
15:62217712 VPS13C A>G	15	62217712	62217712	A	G	VPS13C	c.6552T>C	NM_001018088.2	NP_001018098.1:p.(Cys2184=)	NC_000015.9:g.62217712A>G	(Likely) benign	1 lab	ff210f3c50
15:89824460 FANCI G>A	15	89824460	89824460	G	A	FANCI	c.1441G>A	NM_001113378.1	NP_001106849.1:p.(Val481Ile)	NC_000015.9:g.89824460G>A	(Likely) benign	1 lab	ff2117d77b
16:2342194 ABCA3 C>T	16	2342194	2342194	C	T	ABCA3	c.2460G>A	NM_001089.2	NP_001080.2:p.(Leu820=)	NC_000016.9:g.2342194C>T	(Likely) benign	1 lab	ff2604258b
17:17039561 MPRIP CCAGCAGCAGCAGCAGCAG>C	17	17039561	17039596	CCAGCAGCAGCAGCAGCAG	C	MPRIP	c.551_568del	NM_001364716.4	NP_001351645.2:p.(Ser184_Ser189del)	NC_000017.10:g.17039579_17039596del	(Likely) benign	1 lab	ff264fbec9
6:117746698 ROS1 A>C	6	117746698	117746698	A	C	ROS1	c.122T>G	NM_002944.2	NP_002935.2:p.(Leu41Arg)	NC_000006.11:g.117746698A>C	VUS	1 lab	ff2b8c6ff8
1:27875812 AHDC1 G>A	1	27875812	27875812	G	A	AHDC1	c.2815C>T	NM_001029882.3	NP_001025053.1:p.(Arg939Trp)	NC_000001.10:g.27875812G>A	VUS	1 lab	ff2bddad1e
21:47847568 PCNT G>A	21	47847568	47847568	G	A	PCNT	c.7353G>A	NM_006031.5	NP_006022.3:p.(Gly2451=)	NC_000021.8:g.47847568G>A	(Likely) benign	1 lab	ff2cbf1f7b
6:162864465 PRKN C>T	6	162864465	162864465	C	T	PRKN	c.48G>A	NM_004562.2	NP_004553.2:p.(Glu16=)	NC_000006.11:g.162864465C>T	(Likely) benign	1 lab	ff2e3724b3
10:52834547 PRKG1 G>T	10	52834547	52834547	G	T	PRKG1	c.197G>T	NM_006258.4	NP_006249.1:p.(Ser66Ile)	NC_000010.10:g.52834547G>T	(Likely) benign	1 lab	ff2f6f5f41
20:2641481 IDH3B G>A	20	2641481	2641481	G	A	IDH3B	c.399-6C>T	NM_006899.4	NP_008830.2:p.?	NC_000020.10:g.2641481G>A	(Likely) benign	1 lab	ff3074f9f1
9:139259593 CARD9 A>G	9	139259593	139259593	A	G	CARD9	c.1434T>C	NM_052813.4	NP_434700.2:p.(His478=)	NC_000009.11:g.139259593A>G	(Likely) benign	1 lab	ff30ea5d39
14:21162138 ANG T>G	14	21162138	21162138	T	G	ANG	c.415T>G	NM_001145.4	NP_001136.1:p.(Leu139Val)	NC_000014.8:g.21162138T>G	(Likely) benign	1 lab	ff345d02c6
22:19898935 TXNRD2 A>C	22	19898935	19898935	A	C	TXNRD2	c.627T>G	NM_006440.3	NP_006431.2:p.(Asp209Glu)	NC_000022.10:g.19898935A>C	VUS	1 lab	ff34ace965
14:23342529 LRP10 A>AC	14	23342529	23342535	A	AC	LRP10	c.95dup	NM_014045.4	NP_054764.2:p.(Ala33SerfsTer67)	NC_000014.8:g.23342535dup	(Likely) pathogenic	1 lab	ff35bfd50c
5:118813135 HSD17B4 C>T	5	118813135	118813135	C	T	HSD17B4	c.448C>T	NM_001199291.2	NP_001186220.1:p.(Arg150Trp)	NC_000005.9:g.118813135C>T	VUS	1 lab	ff35d419dd
17:4904509 KIF1C T>C	17	4904509	4904509	T	C	KIF1C	c.184-8T>C	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4904509T>C	(Likely) benign	1 lab	ff377998eb
X:41200846 DDX3X TC>T	X	41200846	41200847	TC	T	DDX3X	c.262del	NM_001356.5	NP_001347.3:p.(Arg88ValfsTer133)	NC_000023.10:g.41200847del	(Likely) pathogenic	1 lab	ff37960cc2
X:155169393 VAMP7 A>G	X	155169393	155169393	A	G	VAMP7	c.530A>G	NM_005638.5	NP_005629.1:p.(Asn177Ser)	NC_000023.10:g.155169393A>G	(Likely) benign	1 lab	ff38a20f39
3:197403801 RUBCN A>C	3	197403801	197403801	A	C	RUBCN	c.2466T>G	NM_001145642.4	NP_001139114.1:p.(Leu822=)	NC_000003.11:g.197403801A>C	(Likely) benign	1 lab	ff3c18c460
10:75394303 MYOZ1 G>A	10	75394303	75394303	G	A	MYOZ1	c.441C>T	NM_021245.3	NP_067068.1:p.(Pro147=)	NC_000010.10:g.75394303G>A	(Likely) benign	1 lab	ff3c533f93
17:29528027 NF1 C>G	17	29528027	29528027	C	G	NF1	c.1063-28C>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528027C>G	(Likely) benign	1 lab	ff3d254bde
17:74473017 RHBDF2 T>G	17	74473017	74473017	T	G	RHBDF2	c.1097A>C	NM_024599.5	NP_078875.4:p.(Lys366Thr)	NC_000017.10:g.74473017T>G	VUS	1 lab	ff3f6370b5
19:38993514 RYR1 C>T	19	38993514	38993514	C	T	RYR1	c.7836-6C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38993514C>T	(Likely) benign	1 lab	ff3f7a4e82
10:88441379 LDB3 G>T	10	88441379	88441379	G	T	LDB3	c.508G>T	NM_007078.2	NP_009009.1:p.(Ala170Ser)	NC_000010.10:g.88441379G>T	(Likely) benign	1 lab	ff3f9236b6
20:40161957 CHD6 G>A	20	40161957	40161957	G	A	CHD6	c.286C>T	NM_032221.4	NP_115597.3:p.(Arg96Trp)	NC_000020.10:g.40161957G>A	VUS	1 lab	ff400253fc
15:90176488 KIF7 G>A	15	90176488	90176488	G	A	KIF7	c.2602C>T	NM_198525.2	NP_940927.2:p.(Leu868=)	NC_000015.9:g.90176488G>A	(Likely) benign	1 lab	ff402d06eb
2:121712934 GLI2 G>A	2	121712934	121712934	G	A	GLI2	c.571G>A	NM_005270.4	NP_005261.2:p.(Gly191Arg)	NC_000002.11:g.121712934G>A	VUS	1 lab	ff40ae8b81
3:135969382 PCCB T>C	3	135969382	135969382	T	C	PCCB	c.165T>C	NM_001178014.1	NP_001171485.1:p.(Ile55=)	NC_000003.11:g.135969382T>C	(Likely) benign	1 lab	ff40b00987
19:18979471 GDF1 TGTC>T	19	18979471	18979474	TGTC	T	GDF1	c.1051_1053del	NM_001492.6	NP_001483.3:p.(Asp351del)	NC_000019.9:g.18979472_18979474del	VUS	1 lab	ff466e938c
12:120796811 MSI1 G>A	12	120796811	120796811	G	A	MSI1	c.448C>T	NM_002442.4	NP_002433.1:p.(Arg150Ter)	NC_000012.11:g.120796811G>A	VUS	1 lab	ff472b6ad2
19:35506760 GRAMD1A G>A	19	35506760	35506760	G	A	GRAMD1A	c.1360G>A	NM_001320036.1	NP_001306965.1:p.(Gly454Ser)	NC_000019.9:g.35506760G>A	VUS	1 lab	ff475845b2
12:122018761 KDM2B T>C	12	122018761	122018761	T	C	KDM2B	c.56A>G	NM_032590.4	NP_115979.3:p.(His19Arg)	NC_000012.11:g.122018761T>C	(Likely) benign	1 lab	ff48704944
3:41268759 CTNNB1 T>TA	3	41268759	41268760	T	TA	CTNNB1	c.998dup	NM_001904.3	NP_001895.1:p.(Tyr333Ter)	NC_000003.11:g.41268760dup	(Likely) pathogenic	1 lab	ff48a381e6
22:37331397 CSF2RB G>A	22	37331397	37331397	G	A	CSF2RB	c.1320G>A	NM_000395.2	NP_000386.1:p.(Leu440=)	NC_000022.10:g.37331397G>A	(Likely) benign	1 lab	ff491cfd3d
X:138727772 MCF2 T>A	X	138727772	138727772	T	A	MCF2	c.186A>T	NM_001171876.1	NP_001165347.1:p.(Arg62Ser)	NC_000023.10:g.138727772T>A	VUS	1 lab	ff4b13c0a1
17:44073753 MAPT C>T	17	44073753	44073753	C	T	MAPT	c.557-12C>T	NM_005910.5	NP_005901.2:p.?	NC_000017.10:g.44073753C>T	(Likely) benign	1 lab	ff4b5930ce
12:65113964 GNS T>C	12	65113964	65113964	T	C	GNS	c.1420-2A>G	NM_002076.3	NP_002067.1:p.?	NC_000012.11:g.65113964T>C	(Likely) pathogenic	1 lab	ff4c0c1e87
9:13176290 MPDZ C>T	9	13176290	13176290	C	T	MPDZ	c.2776G>A	NM_001330637.1	NP_001317566.1:p.(Ala926Thr)	NC_000009.11:g.13176290C>T	(Likely) benign	1 lab	ff4c2ac610
10:129905546 MKI67 C>T	10	129905546	129905546	C	T	MKI67	c.4558G>A	NM_002417.4	NP_002408.3:p.(Val1520Ile)	NC_000010.10:g.129905546C>T	(Likely) benign	1 lab	ff4cbc4a9a
X:54777649 ITIH6 G>A	X	54777649	54777649	G	A	ITIH6	c.3517C>T	NM_198510.2	NP_940912.1:p.(Arg1173Cys)	NC_000023.10:g.54777649G>A	(Likely) benign	1 lab	ff4d2e562d
11:111896219 DLAT G>A	11	111896219	111896219	G	A	DLAT	c.23G>A	NM_001931.4	NP_001922.2:p.(Arg8Gln)	NC_000011.9:g.111896219G>A	(Likely) benign	1 lab	ff4d9058dd
10:285995 ZMYND11 GCAGA>G	10	285995	286002	GCAGA	G	ZMYND11	c.701_704del	NM_001370100.5	NP_001357029.1:p.(Asp234ValfsTer54)	NC_000010.10:g.285999_286002del	(Likely) pathogenic	1 lab	ff4e1de8c5
10:70644735 STOX1 A>G	10	70644735	70644735	A	G	STOX1	c.1183A>G	NM_152709.5	NP_689922.3:p.(Thr395Ala)	NC_000010.10:g.70644735A>G	(Likely) benign	1 lab	ff50bfd255
X:26236187 MAGEB5 T>A	X	26236187	26236187	T	A	MAGEB5	c.769T>A	NM_001271752.1	NP_001258681.1:p.(Tyr257Asn)	NC_000023.10:g.26236187T>A	(Likely) benign	1 lab	ff52783afe
12:88502842 CEP290 C>A	12	88502842	88502842	C	A	CEP290	c.2483+1G>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88502842C>A	(Likely) pathogenic	1 lab	ff5444fd64
11:17632041 OTOG C>T	11	17632041	17632041	C	T	OTOG	c.5230C>T	NM_001277269.1	NP_001264198.1:p.(Gln1744Ter)	NC_000011.9:g.17632041C>T	(Likely) pathogenic	1 lab	ff5847dcf1
1:109439551 GPSM2 G>A	1	109439551	109439551	G	A	GPSM2	c.122G>A	NM_013296.5	NP_037428.3:p.(Arg41His)	NC_000001.10:g.109439551G>A	VUS	1 lab	ff59162375
14:105411648 AHNAK2 G>A	14	105411648	105411648	G	A	AHNAK2	c.10140C>T	NM_138420.3	NP_612429.2:p.(His3380=)	NC_000014.8:g.105411648G>A	(Likely) benign	1 lab	ff5971a7a6
20:21112766 KIZ A>G	20	21112766	21112766	A	G	KIZ	c.118A>G	NM_018474.5	NP_060944.3:p.(Lys40Glu)	NC_000020.10:g.21112766A>G	VUS	1 lab	ff5bd63b71
5:37227819 CPLANE1 G>A	5	37227819	37227819	G	A	CPLANE1	c.1222C>T	NM_023073.3	NP_075561.3:p.(Arg408Trp)	NC_000005.9:g.37227819G>A	VUS	1 lab	ff5c9d4fca
19:41928907 BCKDHA G>A	19	41928907	41928907	G	A	BCKDHA	c.1000G>A	NM_000709.3	NP_000700.1:p.(Gly334Arg)	NC_000019.9:g.41928907G>A	VUS	1 lab	ff5ccb9cb6
11:118344736 KMT2A A>G	11	118344736	118344736	A	G	KMT2A	c.2862A>G	NM_001197104.1	NP_001184033.1:p.(Thr954=)	NC_000011.9:g.118344736A>G	(Likely) benign	1 lab	ff5ccca3b9
11:92600126 FAT3 G>T	11	92600126	92600126	G	T	FAT3	c.11878G>T	NM_001008781.2	NP_001008781.2:p.(Ala3960Ser)	NC_000011.9:g.92600126G>T	VUS	1 lab	ff5f0243e7
9:135201765 SETX A>G	9	135201765	135201765	A	G	SETX	c.5220T>C	NM_001351527.1	NP_001338456.1:p.(Tyr1740=)	NC_000009.11:g.135201765A>G	(Likely) benign	1 lab	ff5f108573
17:80049187 FASN C>T	17	80049187	80049187	C	T	FASN	c.1403G>A	NM_004104.5	NP_004095.4:p.(Arg468His)	NC_000017.10:g.80049187C>T	VUS	1 lab	ff5fa012bd
2:179585120 TTN T>G	2	179585120	179585120	T	G	TTN	c.23369A>C	NM_001267550.1	NP_001254479.1:p.(Lys7790Thr)	NC_000002.11:g.179585120T>G	VUS	1 lab	ff600e2269
10:50227728 VSTM4 G>A	10	50227728	50227728	G	A	VSTM4	c.930C>T	NM_001031746.5	NP_001026916.2:p.(Tyr310=)	NC_000010.10:g.50227728G>A	(Likely) benign	1 lab	ff61a4eeb1
11:133789754 MISSING G>C	11	133789754	133789754	G	C	MISSING				NC_000011.9:g.133789754G>C	VUS	1 lab	ff61ec464a
X:21674825 KLHL34 A>G	X	21674825	21674825	A	G	KLHL34	c.1082T>C	NM_153270.2	NP_695002.1:p.(Val361Ala)	NC_000023.10:g.21674825A>G	(Likely) benign	1 lab	ff624a93a1
7:50132739 ZPBP C>T	7	50132739	50132739	C	T	ZPBP	c.52G>A	NM_007009.3	NP_008940.2:p.(Ala18Thr)	NC_000007.13:g.50132739C>T	(Likely) benign	1 lab	ff626ae592
7:82764006 PCLO G>T	7	82764006	82764006	G	T	PCLO	c.2860C>A	NM_033026.5	NP_149015.2:p.(Pro954Thr)	NC_000007.13:g.82764006G>T	(Likely) benign	1 lab	ff63ee8e22
11:17662555 OTOG C>T	11	17662555	17662555	C	T	OTOG	c.8143C>T	NM_001277269.1	NP_001264198.1:p.(Arg2715Cys)	NC_000011.9:g.17662555C>T	VUS	1 lab	ff65672fa3
15:28419746 HERC2 G>A	15	28419746	28419746	G	A	HERC2	c.9852C>T	NM_004667.5	NP_004658.3:p.(Asn3284=)	NC_000015.9:g.28419746G>A	(Likely) benign	1 lab	ff65a11a44
X:48117182 SSX1 C>A	X	48117182	48117182	C	A	SSX1	c.71C>A	NM_001278691.1	NP_001265620.1:p.(Ala24Asp)	NC_000023.10:g.48117182C>A	VUS	1 lab	ff682a930c
16:2079708 NHERF2 A>C	16	2079708	2079708	A	C	NHERF2	c.339A>C	NM_001130012.2	NP_001123484.1:p.(Pro113=)	NC_000016.9:g.2079708A>C	(Likely) benign	1 lab	ff68b7c2c8
1:197071606 ASPM A>G	1	197071606	197071606	A	G	ASPM	c.6775T>C	NM_018136.4	NP_060606.3:p.(Leu2259=)	NC_000001.10:g.197071606A>G	(Likely) benign	1 lab	ff68cf41cd
11:18305354 HPS5 C>T	11	18305354	18305354	C	T	HPS5	c.3046G>A	NM_181507.1	NP_852608.1:p.(Glu1016Lys)	NC_000011.9:g.18305354C>T	(Likely) benign	1 lab	ff6a90c06b
16:72827874 ZFHX3 T>C	16	72827874	72827874	T	C	ZFHX3	c.8707A>G	NM_006885.3	NP_008816.3:p.(Ser2903Gly)	NC_000016.9:g.72827874T>C	VUS	1 lab	ff6b796f4b
2:1544394 TPO C>T	2	1544394	1544394	C	T	TPO	c.2647C>T	NM_000547.5	NP_000538.3:p.(Pro883Ser)	NC_000002.11:g.1544394C>T	(Likely) benign	1 lab	ff6b79faaa
9:100119973 CCDC180 T>C	9	100119973	100119973	T	C	CCDC180	c.3461T>C	NM_020893.3	NP_065944.2:p.(Ile1154Thr)	NC_000009.11:g.100119973T>C	(Likely) benign	1 lab	ff6ce767f0
19:7707002 STXBP2 G>A	19	7707002	7707002	G	A	STXBP2	c.694G>A	NM_001272034.1	NP_001258963.1:p.(Glu232Lys)	NC_000019.9:g.7707002G>A	VUS	1 lab	ff6da5d4e4
5:10973825 CTNND2 C>T	5	10973825	10973825	C	T	CTNND2	c.3418G>A	NM_001332.3	NP_001323.1:p.(Val1140Ile)	NC_000005.9:g.10973825C>T	VUS	1 lab	ff6f0dd8ee
1:210139301 SYT14 C>T	1	210139301	210139301	C	T	SYT14	c.139C>T	NM_001146261.2	NP_001139733.1:p.(Arg47Cys)	NC_000001.10:g.210139301C>T	(Likely) benign	1 lab	ff70471f55
4:144359611 GAB1 T>C	4	144359611	144359611	T	C	GAB1	c.1053T>C	NM_207123.2	NP_997006.1:p.(Ala351=)	NC_000004.11:g.144359611T>C	(Likely) benign	1 lab	ff7116dc1d
X:70465304 ZMYM3 G>A	X	70465304	70465304	G	A	ZMYM3	c.2856C>T	NM_001171162.1	NP_001164633.1:p.(Leu952=)	NC_000023.10:g.70465304G>A	(Likely) benign	1 lab	ff7203f20c
2:125405432 CNTNAP5 C>T	2	125405432	125405432	C	T	CNTNAP5	c.1974C>T	NM_001367498.1	NP_001354427.1:p.(Tyr658=)	NC_000002.11:g.125405432C>T	(Likely) benign	1 lab	ff75196760
X:110653555 DCX AT>A	X	110653555	110653557	AT	A	DCX	c.71del	NM_001195553.2	NP_001182482.1:p.(Asn24MetfsTer23)	NC_000023.10:g.110653557del	(Likely) pathogenic	1 lab	ff79de5e4b
X:1546819 ASMTL G>A	X	1546819	1546819	G	A	ASMTL	c.705C>T	NM_004192.3	NP_004183.2:p.(Phe235=)	NC_000023.10:g.1546819G>A	(Likely) benign	1 lab	ff7ca4ff2f
17:61790784 STRADA C>T	17	61790784	61790784	C	T	STRADA	c.330G>A	NM_001003787.3	NP_001003787.1:p.(Glu110=)	NC_000017.10:g.61790784C>T	(Likely) benign	1 lab	ff7e918f0f
4:100540243 MTTP G>A	4	100540243	100540243	G	A	MTTP	c.2330G>A	NM_000253.3	NP_000244.2:p.(Arg777Gln)	NC_000004.11:g.100540243G>A	(Likely) benign	1 lab	ff7eba3750
6:169648970 THBS2 C>T	6	169648970	169648970	C	T	THBS2	c.151G>A	NM_003247.3	NP_003238.2:p.(Gly51Ser)	NC_000006.11:g.169648970C>T	(Likely) benign	1 lab	ff7fd94bf3
X:148586558 IDS G>A	X	148586558	148586558	G	A	IDS	c.103+7C>T	NM_000202.7	NP_000193.1:p.?	NC_000023.10:g.148586558G>A	(Likely) benign	1 lab	ff7ff009eb
15:66048775 DENND4A T>C	15	66048775	66048775	T	C	DENND4A	c.14A>G	NM_001320835.1	NP_001307764.1:p.(Lys5Arg)	NC_000015.9:g.66048775T>C	VUS	1 lab	ff8123565b
9:14747005 FREM1 C>G	9	14747005	14747005	C	G	FREM1	c.6054G>C	NM_144966.5	NP_659403.4:p.(Lys2018Asn)	NC_000009.11:g.14747005C>G	VUS	1 lab	ff827278d3
18:34238107 FHOD3 C>G	18	34238107	34238107	C	G	FHOD3	c.1791C>G	NM_001281740.2	NP_001268669.1:p.(Thr597=)	NC_000018.9:g.34238107C>G	(Likely) benign	1 lab	ff83ac0174
17:29562749 NF1 G>C	17	29562749	29562749	G	C	NF1	c.3829G>C	NM_000267.3	NP_000258.1:p.(Gly1277Arg)	NC_000017.10:g.29562749G>C	VUS	1 lab	ff85aac04a
7:56155388 PHKG1 A>G	7	56155388	56155388	A	G	PHKG1	c.165T>C	NM_001258459.1	NP_001245388.1:p.(Gly55=)	NC_000007.13:g.56155388A>G	(Likely) benign	1 lab	ff879cad9e
19:36584927 WDR62 C>A	19	36584927	36584927	C	A	WDR62	c.2334-6C>A	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36584927C>A	(Likely) benign	1 lab	ff87bbaf3c
8:144993492 PLEC G>A	8	144993492	144993492	G	A	PLEC	c.10908C>T	NM_201380.3	NP_958782.1:p.(Asn3636=)	NC_000008.10:g.144993492G>A	(Likely) benign	1 lab	ff88aa19d1
12:86373736 MGAT4C C>T	12	86373736	86373736	C	T	MGAT4C	c.768G>A	NM_013244.4	NP_037376.2:p.(Lys256=)	NC_000012.11:g.86373736C>T	(Likely) benign	1 lab	ff88c8acc0
17:29683983 NF1 C>T	17	29683983	29683983	C	T	NF1	c.7681C>T	NM_000267.3	NP_000258.1:p.(Gln2561Ter)	NC_000017.10:g.29683983C>T	(Likely) pathogenic	1 lab	ff8bc9714a
18:43432482 EPG5 G>C	18	43432482	43432482	G	C	EPG5	c.7690C>G	NM_020964.3	NP_066015.2:p.(Leu2564Val)	NC_000018.9:g.43432482G>C	VUS	1 lab	ff8c8b8199
13:99452623 DOCK9 C>A	13	99452623	99452623	C	A	DOCK9	c.5877G>T	NM_001130048.1	NP_001123520.1:p.(Ala1959=)	NC_000013.10:g.99452623C>A	(Likely) benign	1 lab	ff8d092871
1:237896997 RYR2 T>C	1	237896997	237896997	T	C	RYR2	c.11040-8T>C	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237896997T>C	(Likely) benign	1 lab	ff8d66a9fa
X:107920844 COL4A5 A>G	X	107920844	107920844	A	G	COL4A5	c.3923A>G	NM_033380.2	NP_203699.1:p.(Gln1308Arg)	NC_000023.10:g.107920844A>G	(Likely) benign	1 lab	ff8dd4a75e
12:103984732 STAB2 G>A	12	103984732	103984732	G	A	STAB2	c.139G>A	NM_017564.10	NP_060034.9:p.(Ala47Thr)	NC_000012.11:g.103984732G>A	(Likely) benign	1 lab	ff8f4c4967
19:44051065 XRCC1 C>T	19	44051065	44051065	C	T	XRCC1	c.1264G>A	NM_006297.2	NP_006288.2:p.(Gly422Arg)	NC_000019.9:g.44051065C>T	(Likely) benign	1 lab	ff8ffb243f
2:152536245 NEB G>A	2	152536245	152536245	G	A	NEB	c.3245C>T	NM_001271208.1	NP_001258137.1:p.(Ala1082Val)	NC_000002.11:g.152536245G>A	VUS	1 lab	ff91724d20
6:70976464 COL9A1 C>T	6	70976464	70976464	C	T	COL9A1	c.1297G>A	NM_001851.4	NP_001842.3:p.(Gly433Arg)	NC_000006.11:g.70976464C>T	(Likely) pathogenic	1 lab	ff9177fce5
22:17586757 IL17RA T>C	22	17586757	17586757	T	C	IL17RA	c.958T>C	NM_014339.6	NP_055154.3:p.(Trp320Arg)	NC_000022.10:g.17586757T>C	VUS	1 lab	ff93e8b16e
16:2036000 GFER G>A	16	2036000	2036000	G	A	GFER	c.589G>A	NM_005262.2	NP_005253.3:p.(Asp197Asn)	NC_000016.9:g.2036000G>A	VUS	1 lab	ff9452a9f7
11:609067 PHRF1 C>T	11	609067	609067	C	T	PHRF1	c.3611C>T	NM_001286581.2	NP_001273510.1:p.(Ala1204Val)	NC_000011.9:g.609067C>T	(Likely) benign	1 lab	ff965aa37c
12:111085535 TCTN1 ATC>A	12	111085535	111085542	ATC	A	TCTN1	c.1636-13_1636-12del	NM_001082538.3	NP_001076007.1:p.?	NC_000012.11:g.111085541_111085542del	(Likely) benign	1 lab	ff9701e28b
X:67273589 OPHN1 G>A	X	67273589	67273589	G	A	OPHN1	c.2222C>T	NM_002547.2	NP_002538.1:p.(Pro741Leu)	NC_000023.10:g.67273589G>A	VUS	1 lab	ff9736b4af
16:4387285 GLIS2 G>C	16	4387285	4387285	G	C	GLIS2	c.1335G>C	NM_001318918.1	NP_001305847.1:p.(Glu445Asp)	NC_000016.9:g.4387285G>C	(Likely) benign	1 lab	ff97f29ba4
12:4791420 NDUFA9 G>A	12	4791420	4791420	G	A	NDUFA9	c.850G>A	NM_005002.4	NP_004993.1:p.(Ala284Thr)	NC_000012.11:g.4791420G>A	(Likely) benign	1 lab	ff9b0952eb
8:38097864 DDHD2 C>T	8	38097864	38097864	C	T	DDHD2	c.694C>T	NM_015214.2	NP_056029.2:p.(Arg232Ter)	NC_000008.10:g.38097864C>T	(Likely) pathogenic	1 lab	ff9b21eeab
X:36254939 CFAP47 C>T	X	36254939	36254939	C	T	CFAP47	c.7295C>T	NM_001304548.1	NP_001291477.1:p.(Thr2432Ile)	NC_000023.10:g.36254939C>T	VUS	1 lab	ff9c5cb080
2:47637415 MSH2 GT>G	2	47637415	47637417	GT	G	MSH2	c.551del	NM_000251.3	NP_000242.1:p.(Phe184SerfsTer30)	NC_000002.11:g.47637417del	(Likely) pathogenic	1 lab	ff9d862503
14:81862335 STON2 T>TG	14	81862335	81862340	T	TG	STON2	c.275dup	NM_001366850.1	NP_001353779.1:p.(Pro93ThrfsTer2)	NC_000014.8:g.81862340dup	VUS	1 lab	ff9ddb2a86
19:38991244 RYR1 A>G	19	38991244	38991244	A	G	RYR1	c.7324-2A>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38991244A>G	(Likely) pathogenic	1 lab	ff9e48dd4d
15:28259946 OCA2 G>A	15	28259946	28259946	G	A	OCA2	c.1020C>T	NM_000275.2	NP_000266.2:p.(Gly340=)	NC_000015.9:g.28259946G>A	(Likely) benign	1 lab	ff9fb10455
X:3229580 MXRA5 C>T	X	3229580	3229580	C	T	MXRA5	c.6664G>A	NM_015419.3	NP_056234.2:p.(Val2222Ile)	NC_000023.10:g.3229580C>T	VUS	1 lab	ff9fd06ea6
9:135772850 TSC1 C>A	9	135772850	135772850	C	A	TSC1	c.2773G>T	NM_000368.4	NP_000359.1:p.(Glu925Ter)	NC_000009.11:g.135772850C>A	(Likely) pathogenic	1 lab	ffa07ec4f9
X:153579366 FLNA C>T	X	153579366	153579366	C	T	FLNA	c.7067G>A	NM_001110556.2	NP_001104026.1:p.(Ser2356Asn)	NC_000023.10:g.153579366C>T	(Likely) benign	1 lab	ffa1bb81cd
10:95418693 PDE6C G>A	10	95418693	95418693	G	A	PDE6C	c.2072G>A	NM_006204.3	NP_006195.3:p.(Cys691Tyr)	NC_000010.10:g.95418693G>A	VUS	1 lab	ffa22a455a
2:189872638 COL3A1 G>A	2	189872638	189872638	G	A	COL3A1	c.3391G>A	NM_000090.3	NP_000081.1:p.(Gly1131Ser)	NC_000002.11:g.189872638G>A	(Likely) pathogenic	1 lab	ffa24fbcc1
10:30638090 MTPAP C>A	10	30638090	30638090	C	A	MTPAP	c.115G>T	NM_018109.3	NP_060579.3:p.(Asp39Tyr)	NC_000010.10:g.30638090C>A	(Likely) benign	1 lab	ffa308309b
16:14680194 PARN T>C	16	14680194	14680194	T	C	PARN	c.943A>G	NM_002582.4	NP_002573.1:p.(Thr315Ala)	NC_000016.9:g.14680194T>C	(Likely) benign	1 lab	ffa42e6a48
16:70900199 HYDIN C>T	16	70900199	70900199	C	T	HYDIN	c.11344G>A	NM_001270974.2	NP_001257903.1:p.(Val3782Ile)	NC_000016.9:g.70900199C>T	(Likely) benign	1 lab	ffa4f4dbb4
9:135210002 SETX T>A	9	135210002	135210002	T	A	SETX	c.831A>T	NM_015046.5	NP_055861.3:p.(Glu277Asp)	NC_000009.11:g.135210002T>A	(Likely) benign	1 lab	ffa5747f4d
5:149497216 PDGFRB G>A	5	149497216	149497216	G	A	PDGFRB	c.3102C>T	NM_002609.3	NP_002600.1:p.(Asp1034=)	NC_000005.9:g.149497216G>A	(Likely) benign	1 lab	ffa68bf23b
1:59042180 TACSTD2 C>T	1	59042180	59042180	C	T	TACSTD2	c.649G>A	NM_002353.2	NP_002344.2:p.(Val217Met)	NC_000001.10:g.59042180C>T	VUS	1 lab	ffa6b9766b
14:24633977 IRF9 G>A	14	24633977	24633977	G	A	IRF9	c.804G>A	NM_006084.4	NP_006075.3:p.(Thr268=)	NC_000014.8:g.24633977G>A	(Likely) benign	1 lab	ffa8340b95
16:51173622 SALL1 G>T	16	51173622	51173622	G	T	SALL1	c.2220C>A	NM_001127892.1	NP_001121364.1:p.(Ile740=)	NC_000016.9:g.51173622G>T	(Likely) benign	1 lab	ffa8421a95
4:985137 SLC26A1 G>A	4	985137	985137	G	A	SLC26A1	c.355C>T	NM_213613.3	NP_998778.1:p.(Arg119Trp)	NC_000004.11:g.985137G>A	VUS	1 lab	ffaa90bfce
2:219920565 IHH C>T	2	219920565	219920565	C	T	IHH	c.600G>A	NM_002181.3	NP_002172.2:p.(Thr200=)	NC_000002.11:g.219920565C>T	(Likely) benign	1 lab	ffaaa39084
X:153220639 HCFC1 C>T	X	153220639	153220639	C	T	HCFC1	c.3211G>A	NM_005334.2	NP_005325.2:p.(Val1071Met)	NC_000023.10:g.153220639C>T	(Likely) benign	1 lab	ffab61cd44
2:98914485 VWA3B G>A	2	98914485	98914485	G	A	VWA3B	c.3273G>A	NM_144992.4	NP_659429.4:p.(Pro1091=)	NC_000002.11:g.98914485G>A	(Likely) benign	1 lab	ffad361490
2:73115507 SPR C>T	2	73115507	73115507	C	T	SPR	c.369C>T	NM_003124.4	NP_003115.1:p.(Tyr123=)	NC_000002.11:g.73115507C>T	(Likely) benign	1 lab	ffae82c9c5
16:8905023 PMM2 C>T	16	8905023	8905023	C	T	PMM2	c.435C>T	NM_000303.2	NP_000294.1:p.(Tyr145=)	NC_000016.9:g.8905023C>T	(Likely) benign	1 lab	ffae857c10
X:47230123 ZNF157 C>T	X	47230123	47230123	C	T	ZNF157	c.56C>T	NM_003446.3	NP_003437.2:p.(Pro19Leu)	NC_000023.10:g.47230123C>T	(Likely) benign	1 lab	ffaf43ba1f
2:26700697 OTOF A>G	2	26700697	26700697	A	G	OTOF	c.65T>C	NM_194322.2	NP_919303.1:p.(Leu22Pro)	NC_000002.11:g.26700697A>G	(Likely) benign	1 lab	ffb2425e8f
13:111109440 COL4A2 TC>T	13	111109440	111109442	TC	T	COL4A2	c.1340-248del	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109442del	(Likely) benign	1 lab	ffb43381c6
11:1263137 MUC5B C>T	11	1263137	1263137	C	T	MUC5B	c.5027C>T	NM_002458.2	NP_002449.2:p.(Thr1676Met)	NC_000011.9:g.1263137C>T	VUS	1 lab	ffb58bd379
5:157158461 THG1L T>G	5	157158461	157158461	T	G	THG1L	c.13T>G	NM_017872.5	NP_060342.2:p.(Cys5Gly)	NC_000005.9:g.157158461T>G	(Likely) benign	1 lab	ffb6548d28
7:55228041 EGFR C>T	7	55228041	55228041	C	T	EGFR	c.1363+10C>T	NM_001346899.1	NP_001333828.1:p.?	NC_000007.13:g.55228041C>T	(Likely) benign	1 lab	ffb8fb1bfa
19:54314493 NLRP12 C>T	19	54314493	54314493	C	T	NLRP12	c.420G>A	NM_001277126.1	NP_001264055.1:p.(Met140Ile)	NC_000019.9:g.54314493C>T	(Likely) benign	1 lab	ffbc278a8e
10:74283606 MICU1 T>C	10	74283606	74283606	T	C	MICU1	c.12A>G	NM_001195519.1	NP_001182448.1:p.(Ile4Met)	NC_000010.10:g.74283606T>C	(Likely) benign	1 lab	ffbe0645dd
14:91763720 CCDC88C G>A	14	91763720	91763720	G	A	CCDC88C	c.3895C>T	NM_001080414.3	NP_001073883.2:p.(Arg1299Cys)	NC_000014.8:g.91763720G>A	VUS	1 lab	ffbe8c7a60
11:68181480 LRP5 C>T	11	68181480	68181480	C	T	LRP5	c.1084C>T	NM_001291902.1	NP_001278831.1:p.(Pro362Ser)	NC_000011.9:g.68181480C>T	VUS	1 lab	ffbf3e8cd8
8:61693803 CHD7 C>G	8	61693803	61693803	C	G	CHD7				NC_000008.10:g.61693803C>G	VUS	1 lab	ffc225fed5
X:27999357 DCAF8L1 A>G	X	27999357	27999357	A	G	DCAF8L1	c.95T>C	NM_001017930.1	NP_001017930.1:p.(Val32Ala)	NC_000023.10:g.27999357A>G	(Likely) benign	1 lab	ffc36ad7bf
6:7567609 DSP C>A	6	7567609	7567609	C	A	DSP	c.1067C>A	NM_004415.2	NP_004406.2:p.(Thr356Lys)	NC_000006.11:g.7567609C>A	VUS	1 lab	ffc3af92d6
4:155665626 LRAT G>C	4	155665626	155665626	G	C	LRAT	c.148G>C	NM_004744.4	NP_004735.2:p.(Val50Leu)	NC_000004.11:g.155665626G>C	VUS	1 lab	ffc495fdee
X:72432973 NAP1L2 C>T	X	72432973	72432973	C	T	NAP1L2	c.1356G>A	NM_021963.3	NP_068798.1:p.(Glu452=)	NC_000023.10:g.72432973C>T	(Likely) benign	1 lab	ffc4f4c243
19:9017348 MUC16 T>A	19	9017348	9017348	T	A	MUC16	c.37976A>T	NM_024690.2	NP_078966.2:p.(Asn12659Ile)	NC_000019.9:g.9017348T>A	VUS	1 lab	ffc50b5799
14:105420573 AHNAK2 G>A	14	105420573	105420573	G	A	AHNAK2	c.1215C>T	NM_138420.3	NP_612429.2:p.(Cys405=)	NC_000014.8:g.105420573G>A	(Likely) benign	1 lab	ffc6b34498
17:2573472 PAFAH1B1 AC>A	17	2573472	2573473	AC	A	PAFAH1B1	c.416del	NM_000430.4	NP_000421.1:p.(Thr139MetfsTer34)	NC_000017.10:g.2573473del	(Likely) pathogenic	1 lab	ffc80d0343
6:135715990 AHI1 T>C	6	135715990	135715990	T	C	AHI1	c.3033A>G	NM_001350503.1	NP_001337432.1:p.(Ser1011=)	NC_000006.11:g.135715990T>C	(Likely) benign	1 lab	ffc850962f
1:150530531 ADAMTSL4 C>G	1	150530531	150530531	C	G	ADAMTSL4	c.2357C>G	NM_001288608.1	NP_001275537.1:p.(Pro786Arg)	NC_000001.10:g.150530531C>G	(Likely) benign	1 lab	ffc94988a5
13:103528223 ERCC5 A>T	13	103528223	103528223	A	T	ERCC5	c.3531A>T	NM_000123.3	NP_000114.2:p.(Arg1177Ser)	NC_000013.10:g.103528223A>T	VUS	1 lab	ffc97ca8c0
2:220427214 OBSL1 G>T	2	220427214	220427214	G	T	OBSL1	c.2863C>A	NM_015311.2	NP_056126.1:p.(Leu955Met)	NC_000002.11:g.220427214G>T	VUS	1 lab	ffca6ebefc
9:135796748 TSC1 AC>A	9	135796748	135796750	AC	A	TSC1	c.737+1del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135796750del	(Likely) pathogenic	1 lab	ffcaa1f2d7
18:19429168 MIB1 G>A	18	19429168	19429168	G	A	MIB1	c.2405G>A	NM_020774.3	NP_065825.1:p.(Gly802Asp)	NC_000018.9:g.19429168G>A	VUS	1 lab	ffcb4a4f26
1:155034738 ADAM15 G>GC	1	155034738	155034743	G	GC	ADAM15	c.2447dup	NM_207197.2	NP_997080.1:p.(Pro817ThrfsTer18)	NC_000001.10:g.155034743dup	VUS	1 lab	ffcc675929
X:105279308 SERPINA7 T>C	X	105279308	105279308	T	C	SERPINA7	c.691A>G	NM_000354.5	NP_000345.2:p.(Thr231Ala)	NC_000023.10:g.105279308T>C	(Likely) benign	1 lab	ffcd757366
1:196797234 CFHR1 T>G	1	196797234	196797234	T	G	CFHR1	c.465T>G	NM_002113.2	NP_002104.2:p.(Asn155Lys)	NC_000001.10:g.196797234T>G	(Likely) benign	1 lab	ffcd970c30
2:179399310 TTN C>A	2	179399310	179399310	C	A	TTN	c.102032G>T	NM_001267550.1	NP_001254479.1:p.(Gly34011Val)	NC_000002.11:g.179399310C>A	VUS	1 lab	ffce96854d
8:48713456 PRKDC C>T	8	48713456	48713456	C	T	PRKDC	c.10014G>A	NM_006904.6	NP_008835.5:p.(Ala3338=)	NC_000008.10:g.48713456C>T	(Likely) benign	1 lab	ffceaaa2f0
17:36482423 GPR179 G>A	17	36482423	36482423	G	A	GPR179	c.7029C>T	NM_001004334.3	NP_001004334.3:p.(Asp2343=)	NC_000017.10:g.36482423G>A	(Likely) benign	1 lab	ffd08e4a7d
18:29122643 DSG2 A>G	18	29122643	29122643	A	G	DSG2	c.2162A>G	NM_001943.3	NP_001934.2:p.(His721Arg)	NC_000018.9:g.29122643A>G	(Likely) benign	1 lab	ffd1e6c422
7:47944160 PKD1L1 G>A	7	47944160	47944160	G	A	PKD1L1	c.1746C>T	NM_138295.4	NP_612152.1:p.(Pro582=)	NC_000007.13:g.47944160G>A	(Likely) benign	1 lab	ffd364d93c
19:3885841 ATCAY A>T	19	3885841	3885841	A	T	ATCAY	c.76A>T	NM_033064.4	NP_149053.1:p.(Arg26Trp)	NC_000019.9:g.3885841A>T	VUS	1 lab	ffd3b1a493
1:24175324 FUCA1 C>A	1	24175324	24175324	C	A	FUCA1	c.975G>T	NM_000147.4	NP_000138.2:p.(Leu325=)	NC_000001.10:g.24175324C>A	(Likely) benign	1 lab	ffd408926e
16:2134713 TSC2 C>G	16	2134713	2134713	C	G	TSC2	c.4490C>G	NM_000548.3	NP_000539.2:p.(Pro1497Arg)	NC_000016.9:g.2134713C>G	VUS	1 lab	ffd567ed7a
18:7011369 LAMA1 G>A	18	7011369	7011369	G	A	LAMA1	c.3617C>T	NM_005559.3	NP_005550.2:p.(Ala1206Val)	NC_000018.9:g.7011369G>A	VUS	1 lab	ffd6a4c698
17:74473345 RHBDF2 C>T	17	74473345	74473345	C	T	RHBDF2	c.924G>A	NM_024599.5	NP_078875.4:p.(Glu308=)	NC_000017.10:g.74473345C>T	(Likely) benign	1 lab	ffd6e9b5ae
15:99472788 IGF1R A>G	15	99472788	99472788	A	G	IGF1R	c.2784A>G	NM_000875.4	NP_000866.1:p.(Thr928=)	NC_000015.9:g.99472788A>G	(Likely) benign	1 lab	ffd9aa17fd
2:109383443 RANBP2 C>T	2	109383443	109383443	C	T	RANBP2	c.6448C>T	NM_006267.4	NP_006258.3:p.(Pro2150Ser)	NC_000002.11:g.109383443C>T	VUS	1 lab	ffde6b6e3a
20:32377345 ZNF341 G>T	20	32377345	32377345	G	T	ZNF341	c.1986G>T	NM_001282933.1	NP_001269862.1:p.(Lys662Asn)	NC_000020.10:g.32377345G>T	VUS	1 lab	ffe144acc8
12:83444755 TMTC2 G>A	12	83444755	83444755	G	A	TMTC2	c.2225G>A	NM_152588.3	NP_689801.1:p.(Ser742Asn)	NC_000012.11:g.83444755G>A	(Likely) benign	1 lab	ffe16aa850
6:152565729 SYNE1 C>A	6	152565729	152565729	C	A	SYNE1	c.19635G>T	NM_182961.3	NP_892006.3:p.(Arg6545Ser)	NC_000006.11:g.152565729C>A	(Likely) benign	1 lab	ffe287290d
7:4821390 AP5Z1 C>T	7	4821390	4821390	C	T	AP5Z1	c.366+5C>T	NM_014855.3	NP_055670.1:p.?	NC_000007.13:g.4821390C>T	(Likely) benign	1 lab	ffe73b0b82
17:29676263 NF1 T>G	17	29676263	29676263	T	G	NF1	c.7252T>G	NM_000267.3	NP_000258.1:p.(Leu2418Val)	NC_000017.10:g.29676263T>G	VUS	1 lab	ffe789063a
12:80613584 OTOGL T>TC	12	80613584	80613589	T	TC	OTOGL	c.209-5dup	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80613589dup	(Likely) benign	1 lab	ffe87fd005
X:77380901 PGK1 G>A	X	77380901	77380901	G	A	PGK1	c.1192G>A	NM_000291.3	NP_000282.1:p.(Ala398Thr)	NC_000023.10:g.77380901G>A	VUS	1 lab	ffe99dc968
17:29685588 NF1 T>C	17	29685588	29685588	T	C	NF1	c.7998T>C	NM_000267.3	NP_000258.1:p.(Ser2666=)	NC_000017.10:g.29685588T>C	(Likely) benign	1 lab	ffea0924c3
11:36424848 PRR5L C>T	11	36424848	36424848	C	T	PRR5L	c.165C>T	NM_024841.4	NP_079117.3:p.(Ser55=)	NC_000011.9:g.36424848C>T	(Likely) benign	1 lab	ffea4443f2
1:156105810 LMNA TGCA>T	1	156105810	156105821	TGCA	T	LMNA	c.1064_1066del	NM_170707.4	NP_733821.1:p.(Gln355del)	NC_000001.10:g.156105819_156105821del	(Likely) pathogenic	1 lab	ffeed6a338
X:73744507 SLC16A2 C>T	X	73744507	73744507	C	T	SLC16A2	c.889C>T	NM_006517.4	NP_006508.2:p.(Arg297Cys)	NC_000023.10:g.73744507C>T	VUS	1 lab	ffef2b1bfd
2:228159676 COL4A3 TC>T	2	228159676	228159677	TC	T	COL4A3	c.3419-3del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228159677del	(Likely) benign	1 lab	fff043756c
X:149639165 MAMLD1 A>G	X	149639165	149639165	A	G	MAMLD1	c.1320A>G	NM_005491.4	NP_005482.2:p.(Gln440=)	NC_000023.10:g.149639165A>G	(Likely) benign	1 lab	fff0b4a5e0
X:153696771 PLXNA3 C>T	X	153696771	153696771	C	T	PLXNA3	c.4089C>T	NM_017514.4	NP_059984.3:p.(Thr1363=)	NC_000023.10:g.153696771C>T	(Likely) benign	1 lab	fff3133b44
18:6997812 LAMA1 T>C	18	6997812	6997812	T	C	LAMA1	c.4735A>G	NM_005559.3	NP_005550.2:p.(Asn1579Asp)	NC_000018.9:g.6997812T>C	VUS	1 lab	fff37d9628
2:179604619 TTN C>T	2	179604619	179604619	C	T	TTN	c.13341G>A	NM_001267550.1	NP_001254479.1:p.(Ser4447=)	NC_000002.11:g.179604619C>T	(Likely) benign	1 lab	fff58a692e
13:103703771 SLC10A2 G>A	13	103703771	103703771	G	A	SLC10A2	c.597C>T	NM_000452.2	NP_000443.1:p.(Ile199=)	NC_000013.10:g.103703771G>A	(Likely) benign	1 lab	fff5b96883
X:152990837 ABCD1 G>T	X	152990837	152990837	G	T	ABCD1	c.116G>T	NM_000033.3	NP_000024.2:p.(Cys39Phe)	NC_000023.10:g.152990837G>T	(Likely) benign	1 lab	fffd005c70
11:64522155 PYGM C>T	11	64522155	64522155	C	T	PYGM	c.735+10G>A	NM_001164716.1	NP_001158188.1:p.?	NC_000011.9:g.64522155C>T	(Likely) benign	1 lab	fffd67d5c2
3:52440200 BAP1 T>C	3	52440200	52440200	T	C	BAP1	c.783+69A>G	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52440200T>C	(Likely) benign	1 lab	0015d8fa13
16:23634358 PALB2 C>A	16	23634358	23634358	C	A	PALB2	c.2928G>T	NM_024675.3	NP_078951.2:p.(Arg976Ser)	NC_000016.9:g.23634358C>A	VUS	1 lab	00299bb101
20:57428438 GNAS G>A	20	57428438	57428438	G	A	GNAS	c.-70G>A	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428438G>A	(Likely) benign	1 lab	002d313011
14:68963847 RAD51B G>A	14	68963847	68963847	G	A	RAD51B	c.1036+28880G>A	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.68963847G>A	VUS	1 lab	005b436611
17:41215510 BRCA1 C>A	17	41215510	41215510	C	A	BRCA1	c.5153-120G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215510C>A	VUS	1 lab	005c4b94aa
17:41267797 BRCA1 C>A	17	41267797	41267797	C	A	BRCA1	c.81-1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267797C>A	(Likely) pathogenic	1 lab	006442d025
15:63362074 TPM1 C>G	15	63362074	63362074	C	G	TPM1	c.773-1215C>G	NM_001018004.1	NP_001018004.1:p.?	NC_000015.9:g.63362074C>G	VUS	1 lab	03f32e1f24
17:41251661 BRCA1 T>C	17	41251661	41251661	T	C	BRCA1	c.547+131A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251661T>C	(Likely) benign	1 lab	008ab87700
X:30719022 GK C>T	X	30719022	30719022	C	T	GK	c.833C>T	NM_000167.5	NP_000158.1:p.(Thr278Met)	NC_000023.10:g.30719022C>T	(Likely) pathogenic	1 lab	37aecba098
13:32954107 BRCA2 A>G	13	32954107	32954107	A	G	BRCA2	c.9118-37A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954107A>G	(Likely) benign	1 lab	009f5c7d03
17:41228605 BRCA1 C>T	17	41228605	41228605	C	T	BRCA1	c.4384G>A	NM_007294.3	NP_009225.1:p.(Glu1462Lys)	NC_000017.10:g.41228605C>T	(Likely) benign	1 lab	00bfb6503a
13:32928972 BRCA2 ACTT>A	13	32928972	32928975	ACTT	A	BRCA2	c.7008-25_7008-23del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928973_32928975del	(Likely) benign	1 lab	00c6ccc989
13:32907428 BRCA2 A>G	13	32907428	32907428	A	G	BRCA2	c.1813A>G	NM_000059.3	NP_000050.2:p.(Ile605Val)	NC_000013.10:g.32907428A>G	(Likely) benign	1 lab	00d39f4cfb
18:31319949 ASXL3 ATAAAAGT>A	18	31319949	31319961	ATAAAAGT	A	ASXL3	c.2587_2593del	NM_030632.1	NP_085135.1:p.(Val863IlefsTer70)	NC_000018.9:g.31319955_31319961del	(Likely) pathogenic	1 lab	10b1cae0d1
2:47613553 EPCAM A>G	2	47613553	47613553	A	G	EPCAM	c.904-158A>G	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613553A>G	(Likely) benign	1 lab	00fd7e98e5
X:49067840 CACNA1F C>T	X	49067840	49067840	C	T	CACNA1F	c.4235G>A	NM_005183.3	NP_005174.2:p.(Cys1412Tyr)	NC_000023.10:g.49067840C>T	VUS	1 lab	242296877f
2:47635523 MSH2 C>CTT	2	47635523	47635536	C	CTT	MSH2	c.212-5_212-4dup	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47635535_47635536dup	(Likely) benign	1 lab	015bd5c428
13:32968683 BRCA2 T>A	13	32968683	32968683	T	A	BRCA2	c.9257-143T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968683T>A	(Likely) benign	1 lab	01a46c8734
22:29095803 CHEK2 A>T	22	29095803	29095803	A	T	CHEK2	c.1008+23T>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29095803A>T	(Likely) benign	1 lab	01ddf1b23e
2:215595283 BARD1 A>C	2	215595283	215595283	A	C	BARD1	c.1904-51T>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215595283A>C	(Likely) benign	1 lab	01ecc84ce4
17:41223175 BRCA1 C>A	17	41223175	41223175	C	A	BRCA1	c.4756G>T	NM_007294.3	NP_009225.1:p.(Glu1586Ter)	NC_000017.10:g.41223175C>A	(Likely) pathogenic	1 lab	020d84128f
11:108202697 ATM A>G	11	108202697	108202697	A	G	ATM	c.7721A>G	NM_000051.3	NP_000042.3:p.(Lys2574Arg)	NC_000011.9:g.108202697A>G	(Likely) benign	1 lab	023f1fe88b
9:21975017 CDKN2A C>T	9	21975017	21975017	C	T	CDKN2A	c.-191G>A	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21975017C>T	(Likely) benign	1 lab	3dbad86944
5:112174481 APC G>T	5	112174481	112174481	G	T	APC	c.3190G>T	NM_000038.6	NP_000029.2:p.(Glu1064Ter)	NC_000005.9:g.112174481G>T	(Likely) pathogenic	1 lab	402d241e7c
7:151874581 KMT2C G>C	7	151874581	151874581	G	C	KMT2C	c.7957C>G	NM_170606.2	NP_733751.2:p.(Leu2653Val)	NC_000007.13:g.151874581G>C	(Likely) benign	1 lab	42769d25c6
2:47637319 MSH2 AAT>A	2	47637319	47637321	AAT	A	MSH2	c.454_455del	NM_000251.3	NP_000242.1:p.(Met152ValfsTer4)	NC_000002.11:g.47637320_47637321del	(Likely) pathogenic	1 lab	02845a6839
1:152282794 FLG G>A	1	152282794	152282794	G	A	FLG	c.4568C>T	NM_002016.1	NP_002007.1:p.(Thr1523Ile)	NC_000001.10:g.152282794G>A	(Likely) benign	1 lab	45b9667716
17:59820496 BRIP1 C>T	17	59820496	59820496	C	T	BRIP1	c.2258-1G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59820496C>T	(Likely) pathogenic	1 lab	02b1c5fcae
11:108178767 ATM T>C	11	108178767	108178767	T	C	ATM	c.5762+56T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108178767T>C	(Likely) benign	1 lab	02bfb9e62c
7:101918631 CUX1 G>A	7	101918631	101918631	G	A	CUX1	c.1515+1G>A	NM_001202544.1	NP_001189473.1:p.?	NC_000007.13:g.101918631G>A	(Likely) pathogenic	1 lab	50b04213d9
6:129837549 LAMA2 A>C	6	129837549	129837549	A	C	LAMA2				NC_000006.11:g.129837549A>C	(Likely) benign	1 lab	550c285be9
17:41243736 BRCA1 C>T	17	41243736	41243736	C	T	BRCA1	c.3812G>A	NM_007294.3	NP_009225.1:p.(Ser1271Asn)	NC_000017.10:g.41243736C>T	(Likely) benign	1 lab	02d7cd175a
2:48027021 MSH6 TTTG>T	2	48027021	48027024	TTTG	T	MSH6	c.1900_1902del	NM_000179.3	NP_000170.1:p.(Leu634del)	NC_000002.11:g.48027022_48027024del	(Likely) pathogenic	1 lab	036fbda286
11:119148875 CBL G>C	11	119148875	119148875	G	C	CBL	c.1096-1G>C	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119148875G>C	(Likely) pathogenic	1 lab	55b08546ff
2:47641589 MSH2 G>A	2	47641589	47641589	G	A	MSH2	c.942+32G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641589G>A	(Likely) benign	1 lab	03a0e69e12
2:47710086 MSH2 TGA>T	2	47710086	47710088	TGA	T	MSH2	c.2804_2805del	NM_000251.3	NP_000242.1:p.(Ter935=)	NC_000002.11:g.47710087_47710088del	(Likely) benign	1 lab	03ee2cc280
12:48376864 COL2A1 C>G	12	48376864	48376864	C	G	COL2A1	c.2094+12G>C	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48376864C>G	(Likely) benign	1 lab	5ae1d85c99
17:41203115 BRCA1 A>T	17	41203115	41203115	A	T	BRCA1	c.5297T>A	NM_007294.3	NP_009225.1:p.(Ile1766Asn)	NC_000017.10:g.41203115A>T	(Likely) pathogenic	1 lab	04178401f6
3:37090449 MLH1 A>G	3	37090449	37090449	A	G	MLH1				NC_000003.11:g.37090449A>G	(Likely) benign	1 lab	4c11cea2eb
2:215674095 BARD1 C>A	2	215674095	215674095	C	A	BARD1	c.158+41G>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674095C>A	(Likely) benign	1 lab	043e84a931
2:48025813 MSH6 G>A	2	48025813	48025813	G	A	MSH6	c.691G>A	NM_000179.3	NP_000170.1:p.(Val231Ile)	NC_000002.11:g.48025813G>A	(Likely) benign	1 lab	045077cbe2
11:108201248 ATM A>G	11	108201248	108201248	A	G	ATM	c.7515+100A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108201248A>G	(Likely) benign	1 lab	0460bde92a
2:48033634 MSH6 C>CTATT	2	48033634	48033638	C	CTATT	MSH6	c.3846_3849dup	NM_000179.2	NP_000170.1:p.(Thr1284TyrfsTer6)	NC_000002.11:g.48033635_48033638dup	(Likely) pathogenic	1 lab	04dc12b55d
13:32929008 BRCA2 G>T	13	32929008	32929008	G	T	BRCA2	c.7018G>T	NM_000059.3	NP_000050.2:p.(Glu2340Ter)	NC_000013.10:g.32929008G>T	(Likely) pathogenic	1 lab	605a060d07
11:108201232 ATM T>G	11	108201232	108201232	T	G	ATM	c.7515+84T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108201232T>G	(Likely) benign	1 lab	0505e41c29
7:6018455 PMS2 CT>TA	7	6018455	6018456	CT	TA	PMS2	c.2175-129_2175-128delinsTA	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6018455_6018456delinsTA	(Likely) benign	1 lab	055b7c8114
17:59763269 BRIP1 C>A	17	59763269	59763269	C	A	BRIP1	c.2833G>T	NM_032043.2	NP_114432.2:p.(Glu945Ter)	NC_000017.10:g.59763269C>A	VUS	1 lab	05816246cf
3:169482812 TERC T>C	3	169482812	169482812	T	C	TERC	n.37A>G	NR_001566.1		NC_000003.11:g.169482812T>C	(Likely) pathogenic	1 lab	76dfcd8af4
17:41244913 BRCA1 C>T	17	41244913	41244913	C	T	BRCA1	c.2635G>A	NM_007294.3	NP_009225.1:p.(Glu879Lys)	NC_000017.10:g.41244913C>T	(Likely) benign	1 lab	05de11129e
13:32907097 BRCA2 G>A	13	32907097	32907097	G	A	BRCA2	c.1482G>A	NM_000059.3	NP_000050.2:p.(Val494=)	NC_000013.10:g.32907097G>A	(Likely) benign	1 lab	850b49e76f
1:2161182 SKI G>T	1	2161182	2161182	G	T	SKI	c.969+8G>T	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2161182G>T	(Likely) benign	1 lab	03161a174c
17:7578235 TP53 T>C	17	7578235	7578235	T	C	TP53	c.614A>G	NM_000546.5	NP_000537.3:p.(Tyr205Cys)	NC_000017.10:g.7578235T>C	(Likely) pathogenic	1 lab	06251dde7d
13:32907000 BRCA2 A>T	13	32907000	32907000	A	T	BRCA2	c.1385A>T	NM_000059.3	NP_000050.2:p.(Glu462Val)	NC_000013.10:g.32907000A>T	(Likely) benign	1 lab	064115880b
17:41199722 BRCA1 T>A	17	41199722	41199722	T	A	BRCA1	c.5407-2A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199722T>A	(Likely) pathogenic	1 lab	06489955b1
15:95013651 MCTP2 G>A	15	95013651	95013651	G	A	MCTP2	c.2450G>A	NM_001385001.1	NP_001371930.1:p.(Arg817Gln)	NC_000015.9:g.95013651G>A	VUS	1 lab	00003449c2
17:41246700 BRCA1 AATGAG>A	17	41246700	41246705	AATGAG	A	BRCA1	c.843_847del	NM_007294.4	NP_009225.1:p.(Ser282ThrfsTer3)	NC_000017.10:g.41246701_41246705del	(Likely) pathogenic	1 lab	06804b6f11
2:215674341 BARD1 A>G	2	215674341	215674341	A	G	BARD1	c.-48T>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674341A>G	(Likely) benign	1 lab	0687cecfe0
7:144107254 NOBOX C>T	7	144107254	144107254	C	T	NOBOX	c.67G>A	NM_001080413.3	NP_001073882.3:p.(Gly23Ser)	NC_000007.13:g.144107254C>T	VUS	1 lab	965ae648a3
2:11853939 LPIN1 G>A	2	11853939	11853939	G	A	LPIN1	c.138+1G>A	NM_001261428.1	NP_001248357.1:p.?	NC_000002.11:g.11853939G>A	VUS	1 lab	9e42976dbb
11:108154983 ATM T>G	11	108154983	108154983	T	G	ATM	c.3776T>G	NM_000051.3	NP_000042.3:p.(Leu1259Arg)	NC_000011.9:g.108154983T>G	VUS	1 lab	0726eee023
2:215674323 BARD1 C>G	2	215674323	215674323	C	G	BARD1	c.-30G>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674323C>G	(Likely) benign	1 lab	0730d81783
11:108128414 ATM A>G	11	108128414	108128414	A	G	ATM	c.2376+81A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108128414A>G	(Likely) benign	1 lab	0733266516
17:41243931 BRCA1 GCC>G	17	41243931	41243935	GCC	G	BRCA1	c.3615_3616del	NM_007294.4	NP_009225.1:p.(Ala1206GlnfsTer12)	NC_000017.10:g.41243934_41243935del	(Likely) pathogenic	1 lab	0780e5e51a
8:55778404 RP1 G>A	8	55778404	55778404	G	A	RP1	c.3980G>A	NM_001375654.1	NP_001362583.1:p.(Trp1327Ter)	NC_000008.10:g.55778404G>A	(Likely) benign	1 lab	ac95da93ed
10:118891964 VAX1 GTTCA>G	10	118891964	118891970	GTTCA	G	VAX1	c.450_453del	NM_199131.2	NP_954582.1:p.(Glu151AspfsTer6)	NC_000010.10:g.118891967_118891970del	(Likely) pathogenic	1 lab	0f803a946c
13:77566128 CLN5 CGCGCAGGGGCAAG>C	13	77566128	77566145	CGCGCAGGGGCAAG	C	CLN5	c.47_59del	NM_006493.2	NP_006484.1:p.(Gln16ProfsTer30)	NC_000013.10:g.77566133_77566145del	(Likely) pathogenic	1 lab	19cad099d6
16:23637666 PALB2 G>A	16	23637666	23637666	G	A	PALB2	c.2639C>T	NM_024675.4	NP_078951.2:p.(Ala880Val)	NC_000016.9:g.23637666G>A	(Likely) benign	1 lab	084b9fc7e5
3:37067073 MLH1 CACTAT>C	3	37067073	37067079	CACTAT	C	MLH1	c.1039-53_1039-49del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067075_37067079del	VUS	1 lab	084ba42a7a
17:41276186 BRCA1 TGACA>T	17	41276186	41276190	TGACA	T	BRCA1	c.-19-58_-19-55del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276187_41276190del	(Likely) benign	1 lab	0878a0b457
17:59857599 BRIP1 C>CA	17	59857599	59857610	C	CA	BRIP1	c.1935+22dup	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59857610dup	(Likely) benign	1 lab	088e86f50a
2:48018292 MSH6 TTTG>T	2	48018292	48018296	TTTG	T	MSH6	c.457+32_457+34del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48018294_48018296del	(Likely) benign	1 lab	089ce91521
10:67829118 CTNNA3 C>A	10	67829118	67829118	C	A	CTNNA3	c.2107G>T	NM_001127384.2	NP_001120856.1:p.(Val703Phe)	NC_000010.10:g.67829118C>A	VUS	1 lab	d3c09b5e08
Y:24218581 PRY2 G>C	Y	24218581	24218581	G	C	PRY2	n.369C>G	NR_197360.1		NC_000024.9:g.24218581G>C	VUS	1 lab	d79da78ac6
17:41244267 BRCA1 TAG>T	17	41244267	41244270	TAG	T	BRCA1	c.3279_3280del	NM_007294.4	NP_009225.1:p.(Tyr1094Ter)	NC_000017.10:g.41244269_41244270del	(Likely) pathogenic	1 lab	08bd731379
13:32889548 BRCA2 C>T	13	32889548	32889548	C	T	BRCA2	c.-40+266C>T	NM_001432077.1	NP_001419006.1:p.?	NC_000013.10:g.32889548C>T	(Likely) benign	1 lab	ddde76267d
6:42974387 PPP2R5D C>T	6	42974387	42974387	C	T	PPP2R5D	c.292C>T	NM_006245.3	NP_006236.1:p.(Arg98Trp)	NC_000006.11:g.42974387C>T	VUS	1 lab	e20ff0df33
13:32937356 BRCA2 A>G	13	32937356	32937356	A	G	BRCA2	c.8017A>G	NM_000059.3	NP_000050.2:p.(Lys2673Glu)	NC_000013.10:g.32937356A>G	VUS	1 lab	08d6e8fd35
13:32913706 BRCA2 TTATTTAAG>T	13	32913706	32913716	TTATTTAAG	T	BRCA2	c.5217_5224del	NM_000059.4	NP_000050.3:p.(Tyr1739Ter)	NC_000013.10:g.32913709_32913716del	(Likely) pathogenic	1 lab	08f0ba1f3a
7:142583296 TRPV6 C>T	7	142583296	142583296	C	T	TRPV6	c.86G>A	NM_018646.6	NP_061116.5:p.(Arg29Gln)	NC_000007.13:g.142583296C>T	VUS	1 lab	03175537da
13:32913709 BRCA2 TTTAAG>T	13	32913709	32913715	TTTAAG	T	BRCA2	c.5219_5223del	NM_000059.4	NP_000050.3:p.(Leu1740Ter)	NC_000013.10:g.32913711_32913715del	(Likely) pathogenic	1 lab	0955264304
22:29095998 CHEK2 C>A	22	29095998	29095998	C	A	CHEK2	c.909-73G>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29095998C>A	(Likely) benign	1 lab	095d24c89b
12:52308157 ACVRL1 ATG>A	12	52308157	52308159	ATG	A	ACVRL1	c.626-65_626-64del	NM_000020.3	NP_000011.2:p.?	NC_000012.11:g.52308158_52308159del	(Likely) benign	1 lab	0960f33877
17:7579728 TP53 G>A	17	7579728	7579728	G	A	TP53	c.75-7C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579728G>A	(Likely) benign	1 lab	0979b1b074
6:30881999 VARS2 C>G	6	30881999	30881999	C	G	VARS2				NC_000006.11:g.30881999C>G	VUS	1 lab	4c9c90c23f
17:79478250 ACTG1 G>A	17	79478250	79478250	G	A	ACTG1				NC_000017.10:g.79478250G>A	(Likely) pathogenic	1 lab	01214c184f
17:41228679 BRCA1 T>C	17	41228679	41228679	T	C	BRCA1	c.4358-48A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228679T>C	(Likely) benign	1 lab	09d73fc3e1
2:31620584 XDH G>A	2	31620584	31620584	G	A	XDH	c.445C>T	NM_000379.4	NP_000370.2:p.(Arg149Cys)	NC_000002.11:g.31620584G>A	(Likely) pathogenic	1 lab	0002a902e2
11:108214049 ATM G>C	11	108214049	108214049	G	C	ATM	c.8369G>C	NM_000051.3	NP_000042.3:p.(Arg2790Thr)	NC_000011.9:g.108214049G>C	VUS	1 lab	0a28c86fd0
2:47635534 MSH2 TTTA>T	2	47635534	47635537	TTTA	T	MSH2	c.212-5_212-3del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635535_47635537del	(Likely) benign	1 lab	0a393b5733
4:4543887 STX18 C>G	4	4543887	4543887	C	G	STX18	c.-76G>C	NM_001346282.1	NP_001333211.1:p.?	NC_000004.11:g.4543887C>G	VUS	1 lab	01118ee162
15:78781120 IREB2 G>A	15	78781120	78781120	G	A	IREB2	c.2076+7G>A	NM_004136.4	NP_004127.2:p.?	NC_000015.9:g.78781120G>A	(Likely) benign	1 lab	0004304a96
17:59926423 BRIP1 A>G	17	59926423	59926423	A	G	BRIP1	c.507+67T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59926423A>G	(Likely) benign	1 lab	0a696a2561
X:54777550 ITIH6 C>A	X	54777550	54777550	C	A	ITIH6	c.3616G>T	NM_198510.3	NP_940912.1:p.(Glu1206Ter)	NC_000023.10:g.54777550C>A	VUS	1 lab	0005e54db9
3:160037636 IFT80 T>C	3	160037636	160037636	T	C	IFT80	c.869A>G	NM_020800.3	NP_065851.1:p.(Asn290Ser)	NC_000003.11:g.160037636T>C	(Likely) benign	1 lab	00077b4ed0
5:150917347 FAT2 A>T	5	150917347	150917347	A	T	FAT2	c.9193+7T>A	NM_001447.3	NP_001438.1:p.?	NC_000005.9:g.150917347A>T	(Likely) benign	1 lab	00079b7b56
13:32914052 BRCA2 G>A	13	32914052	32914052	G	A	BRCA2	c.5560G>A	NM_000059.4	NP_000050.3:p.(Val1854Ile)	NC_000013.10:g.32914052G>A	(Likely) benign	1 lab	0a77bedc1a
11:108195954 ATM C>T	11	108195954	108195954	C	T	ATM	c.6573-83C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195954C>T	(Likely) benign	1 lab	0a8a852f8f
11:108119806 ATM G>C	11	108119806	108119806	G	C	ATM	c.1212G>C	NM_000051.3	NP_000042.3:p.(Gln404His)	NC_000011.9:g.108119806G>C	(Likely) benign	1 lab	0aafae52eb
20:3869987 PANK2 TGCGCGTTGGCGCA>T	20	3869987	3870000	TGCGCGTTGGCGCA	T	PANK2	c.-801_-789del	NM_001324191.1	NP_001311120.1:p.?	NC_000020.10:g.3869988_3870000del	(Likely) pathogenic	1 lab	1ad9389fbe
7:142567571 EPHB6 G>T	7	142567571	142567571	G	T	EPHB6	c.2462G>T	NM_004445.6	NP_004436.4:p.(Gly821Val)	NC_000007.13:g.142567571G>T	(Likely) benign	1 lab	0007a667f2
2:48023111 MSH6 C>A	2	48023111	48023111	C	A	MSH6	c.536C>A	NM_000179.2	NP_000170.1:p.(Ala179Glu)	NC_000002.11:g.48023111C>A	VUS	1 lab	0b1d7e6931
20:57766339 ZNF831 T>G	20	57766339	57766339	T	G	ZNF831	c.265T>G	NM_178457.3	NP_848552.1:p.(Phe89Val)	NC_000020.10:g.57766339T>G	(Likely) benign	1 lab	00081861a1
1:156100389 LMNA T>C	1	156100389	156100389	T	C	LMNA	c.357-19T>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156100389T>C	(Likely) benign	1 lab	0008844b28
16:23614955 PALB2 G>A	16	23614955	23614955	G	A	PALB2	c.3386C>T	NM_024675.3	NP_078951.2:p.(Ala1129Val)	NC_000016.9:g.23614955G>A	(Likely) benign	1 lab	0ba1610fdb
19:7184342 INSR G>A	19	7184342	7184342	G	A	INSR	c.959C>T	NM_000208.4	NP_000199.2:p.(Thr320Met)	NC_000019.9:g.7184342G>A	(Likely) benign	1 lab	0009e9e4be
9:134379652 POMT1 A>G	9	134379652	134379652	A	G	POMT1	c.47A>G	NM_001077365.2	NP_001070833.1:p.(Asn16Ser)	NC_000009.11:g.134379652A>G	(Likely) benign	1 lab	000ac6574d
11:108119614 ATM TCAA>T	11	108119614	108119617	TCAA	T	ATM	c.1066-45_1066-43del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108119615_108119617del	(Likely) benign	1 lab	0c00c923ae
12:122317388 HPD G>GTTCTC	12	122317388	122317410	G	GTTCTC	HPD	c.-447+8938_-447+8942dup	NM_001171993.1	NP_001165464.1:p.?	NC_000012.11:g.122317406_122317410dup	(Likely) benign	1 lab	014789b333
17:59793577 BRIP1 AGTTT>A	17	59793577	59793581	AGTTT	A	BRIP1	c.2380-157_2380-154del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59793578_59793581del	(Likely) benign	1 lab	0c1629614e
11:108138091 ATM G>C	11	108138091	108138091	G	C	ATM	c.2638+22G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108138091G>C	VUS	1 lab	0c84537194
2:219209295 PNKD T>G	2	219209295	219209295	T	G	PNKD	c.984+2T>G	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219209295T>G	VUS	1 lab	000aca9ad0
12:133233854 POLE G>A	12	133233854	133233854	G	A	POLE	c.3460-10C>T	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133233854G>A	(Likely) benign	1 lab	0d2c7b6ad1
15:33926887 RYR3 C>T	15	33926887	33926887	C	T	RYR3	c.3128C>T	NM_001036.6	NP_001027.3:p.(Thr1043Ile)	NC_000015.9:g.33926887C>T	VUS	1 lab	000dc3cd5b
16:68857191 CDH1 C>A	16	68857191	68857191	C	A	CDH1	c.1937-111C>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68857191C>A	(Likely) benign	1 lab	0d339132d4
11:108187013 ATM C>CA	11	108187013	108187021	C	CA	ATM	c.6198+181dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108187021dup	(Likely) benign	1 lab	0d58515e57
16:30386188 MYL11 G>A	16	30386188	30386188	G	A	MYL11	c.3+7G>A	NM_013292.5	NP_037424.2:p.?	NC_000016.9:g.30386188G>A	(Likely) benign	1 lab	000eb5cbe5
10:89720748 PTEN T>TCC	10	89720748	89720750	T	TCC	PTEN	c.900_901insCC	NM_000314.8	NP_000305.3:p.(Asp301ProfsTer7)	NC_000010.10:g.89720749_89720750insCC	(Likely) pathogenic	1 lab	0db9fbaede
13:32918672 BRCA2 A>G	13	32918672	32918672	A	G	BRCA2	c.6842-23A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918672A>G	(Likely) benign	1 lab	0e1a14e438
17:33430328 RAD51D A>T	17	33430328	33430328	A	T	RAD51D	c.683T>A	NM_002878.3	NP_002869.3:p.(Met228Lys)	NC_000017.10:g.33430328A>T	(Likely) benign	1 lab	0e2470780b
13:32912336 BRCA2 ACTG>A	13	32912336	32912339	ACTG	A	BRCA2	c.3845_3847del	NM_000059.4	NP_000050.3:p.(Thr1282_Val1283delinsIle)	NC_000013.10:g.32912337_32912339del	(Likely) pathogenic	1 lab	0e2865117b
14:64463864 SYNE2 C>T	14	64463864	64463864	C	T	SYNE2	c.3140C>T	NM_182914.3	NP_878918.2:p.(Thr1047Met)	NC_000014.8:g.64463864C>T	(Likely) benign	1 lab	0317a2a517
12:92818756 CLLU1 AC>A	12	92818756	92818757	AC	A	CLLU1	n.306-397del	NR_027932.1		NC_000012.11:g.92818757del	VUS	1 lab	0271c55a9c
22:29091210 CHEK2 A>AG	22	29091210	29091211	A	AG	CHEK2	c.1279_1280insC	NM_007194.4	NP_009125.1:p.(Phe427SerfsTer3)	NC_000022.10:g.29091210_29091211insG	(Likely) pathogenic	1 lab	0e8dabd705
22:42611238 TCF20 G>C	22	42611238	42611238	G	C	TCF20	c.74C>G	NM_001378418.1	NP_001365347.1:p.(Ser25Cys)	NC_000022.10:g.42611238G>C	VUS	1 lab	00118a2436
22:29120925 CHEK2 G>GA	22	29120925	29120935	G	GA	CHEK2	c.592+39dup	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29120935dup	(Likely) benign	1 lab	2974fb1684
11:108151734 ATM G>T	11	108151734	108151734	G	T	ATM	c.3415G>T	NM_000051.3	NP_000042.3:p.(Glu1139Ter)	NC_000011.9:g.108151734G>T	(Likely) pathogenic	1 lab	0ec09bbeb4
10:129907540 MKI67 T>C	10	129907540	129907540	T	C	MKI67	c.2564A>G	NM_002417.5	NP_002408.3:p.(Glu855Gly)	NC_000010.10:g.129907540T>C	VUS	1 lab	00139fa08e
19:1430272 DAZAP1 CGTTCA>C	19	1430272	1430277	CGTTCA	C	DAZAP1	c.783_787del	NM_018959.4	NP_061832.2:p.(Phe262LeufsTer163)	NC_000019.9:g.1430273_1430277del	(Likely) benign	1 lab	0014211aa4
3:69167987 LMOD3 C>T	3	69167987	69167987	C	T	LMOD3	c.1519G>A	NM_198271.5	NP_938012.2:p.(Glu507Lys)	NC_000003.11:g.69167987C>T	(Likely) benign	1 lab	001422bdd8
11:108098697 ATM G>A	11	108098697	108098697	G	A	ATM	c.185+82G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098697G>A	(Likely) benign	1 lab	0ef1c67fcb
1:173797450 DARS2 T>TC	1	173797450	173797451	T	TC	DARS2	c.228-21_228-20insC	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797450_173797451insC	(Likely) benign	1 lab	0015daa5a7
13:32907407 BRCA2 ACATCTT>A	13	32907407	32907413	ACATCTT	A	BRCA2	c.1793_1798del	NM_000059.4	NP_000050.3:p.(Thr598_Tyr600delinsAsn)	NC_000013.10:g.32907408_32907413del	(Likely) pathogenic	1 lab	0f5d665ef3
11:108143297 ATM G>A	11	108143297	108143297	G	A	ATM	c.3116G>A	NM_000051.3	NP_000042.3:p.(Arg1039Lys)	NC_000011.9:g.108143297G>A	VUS	1 lab	0f85b9ced7
11:44129329 EXT2 C>T	11	44129329	44129329	C	T	EXT2	c.67C>T	NM_207122.2	NP_997005.1:p.(Arg23Ter)	NC_000011.9:g.44129329C>T	(Likely) pathogenic	1 lab	001674b59e
22:29130590 CHEK2 G>A	22	29130590	29130590	G	A	CHEK2	c.120C>T	NM_007194.4	NP_009125.1:p.(Ser40=)	NC_000022.10:g.29130590G>A	(Likely) benign	1 lab	0fa8b6952c
13:32914489 BRCA2 G>A	13	32914489	32914489	G	A	BRCA2	c.5997G>A	NM_000059.3	NP_000050.2:p.(Val1999=)	NC_000013.10:g.32914489G>A	(Likely) benign	1 lab	1034fb01bb
1:215808047 USH2A T>A	1	215808047	215808047	T	A	USH2A				NC_000001.10:g.215808047T>A	(Likely) pathogenic	1 lab	4d71645bc8
3:183883253 DVL3 A>G	3	183883253	183883253	A	G	DVL3	c.737A>G	NM_004423.4	NP_004414.3:p.(Asn246Ser)	NC_000003.11:g.183883253A>G	(Likely) benign	1 lab	0016ae0b39
X:102962442 GLRA4 C>T	X	102962442	102962442	C	T	GLRA4	n.1376G>A	NR_164162.1		NC_000023.10:g.102962442C>T	VUS	1 lab	28f54b32ca
3:48669724 SLC26A6 C>T	3	48669724	48669724	C	T	SLC26A6	c.539G>A	NM_022911.3	NP_075062.2:p.(Arg180Gln)	NC_000003.11:g.48669724C>T	(Likely) benign	1 lab	00183bc081
13:32914458 BRCA2 CAG>C	13	32914458	32914461	CAG	C	BRCA2	c.5968_5969del	NM_000059.4	NP_000050.3:p.(Asp1990CysfsTer12)	NC_000013.10:g.32914460_32914461del	(Likely) pathogenic	1 lab	11081c1827
11:108235926 ATM G>A	11	108235926	108235926	G	A	ATM	c.8968G>A	NM_000051.3	NP_000042.3:p.(Glu2990Lys)	NC_000011.9:g.108235926G>A	(Likely) benign	1 lab	1135eb8a63
X:140994320 MAGEC1 G>T	X	140994320	140994320	G	T	MAGEC1	c.1130G>T	NM_005462.5	NP_005453.2:p.(Gly377Val)	NC_000023.10:g.140994320G>T	(Likely) benign	1 lab	001912a81f
13:32932030 BRCA2 C>G	13	32932030	32932030	C	G	BRCA2	c.7769C>G	NM_000059.4	NP_000050.3:p.(Ser2590Cys)	NC_000013.10:g.32932030C>G	VUS	1 lab	11566d0c82
2:48030590 MSH6 AG>A	2	48030590	48030595	AG	A	MSH6	c.3209del	NM_000179.3	NP_000170.1:p.(Gly1070ValfsTer9)	NC_000002.11:g.48030595del	(Likely) pathogenic	1 lab	11c1af859e
16:89347933 ANKRD11 C>G	16	89347933	89347933	C	G	ANKRD11	c.5017G>C	NM_013275.6	NP_037407.4:p.(Gly1673Arg)	NC_000016.9:g.89347933C>G	(Likely) benign	1 lab	00195e55ce
7:6017226 PMS2 C>T	7	6017226	6017226	C	T	PMS2	c.2438G>A	NM_000535.7	NP_000526.2:p.(Arg813Gln)	NC_000007.13:g.6017226C>T	VUS	1 lab	1202828adf
17:74003525 EVPL C>T	17	74003525	74003525	C	T	EVPL	c.5761G>A	NM_001988.4	NP_001979.2:p.(Val1921Ile)	NC_000017.10:g.74003525C>T	VUS	1 lab	001a27126e
2:47693875 MSH2 A>C	2	47693875	47693875	A	C	MSH2	c.1589A>C	NM_000251.3	NP_000242.1:p.(Glu530Ala)	NC_000002.11:g.47693875A>C	VUS	1 lab	1226f7fc57
2:47643505 MSH2 G>T	2	47643505	47643505	G	T	MSH2	c.1013G>T	NM_000251.2	NP_000242.1:p.(Gly338Val)	NC_000002.11:g.47643505G>T	(Likely) pathogenic	1 lab	12397df37a
2:48032873 MSH6 GACTAT>G	2	48032873	48032878	GACTAT	G	MSH6	c.3646+28_3646+32del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032874_48032878del	(Likely) benign	1 lab	12722fe7e8
13:32914126 BRCA2 C>G	13	32914126	32914126	C	G	BRCA2	c.5634C>G	NM_000059.3	NP_000050.2:p.(Asn1878Lys)	NC_000013.10:g.32914126C>G	(Likely) benign	1 lab	129191fc4e
12:133158680 FBRSL1 G>A	12	133158680	133158680	G	A	FBRSL1	c.2029G>A	NM_001367871.1	NP_001354800.1:p.(Gly677Ser)	NC_000012.11:g.133158680G>A	(Likely) benign	1 lab	001af9967c
2:47702474 MSH2 C>T	2	47702474	47702474	C	T	MSH2	c.2005+65C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702474C>T	(Likely) benign	1 lab	12b06e3c51
17:59853693 BRIP1 A>G	17	59853693	59853693	A	G	BRIP1	c.2097+69T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853693A>G	(Likely) benign	1 lab	130c6ef80e
16:23632769 PALB2 AG>A	16	23632769	23632774	AG	A	PALB2	c.3026del	NM_024675.4	NP_078951.2:p.(Pro1009LeufsTer6)	NC_000016.9:g.23632774del	(Likely) pathogenic	1 lab	132be7537d
2:130914904 SMPD4 G>A	2	130914904	130914904	G	A	SMPD4	c.1017C>T	NM_017951.5	NP_060421.3:p.(Ala339=)	NC_000002.11:g.130914904G>A	(Likely) benign	1 lab	001b8d061d
8:37795156 GOT1L1 C>T	8	37795156	37795156	C	T	GOT1L1	c.409G>A	NM_152413.3	NP_689626.2:p.(Glu137Lys)	NC_000008.10:g.37795156C>T	VUS	1 lab	001ca6c917
13:32893257 BRCA2 A>G	13	32893257	32893257	A	G	BRCA2	c.111A>G	NM_000059.3	NP_000050.2:p.(Ser37=)	NC_000013.10:g.32893257A>G	(Likely) benign	1 lab	13841329b8
13:32900728 BRCA2 C>T	13	32900728	32900728	C	T	BRCA2	c.609C>T	NM_000059.3	NP_000050.2:p.(Thr203=)	NC_000013.10:g.32900728C>T	(Likely) benign	1 lab	13ab15e831
6:168695373 DACT2 C>T	6	168695373	168695373	C	T	DACT2	c.670G>A	NM_001286351.1	NP_001273280.1:p.(Ala224Thr)	NC_000006.11:g.168695373C>T	(Likely) benign	1 lab	03419b5bf9
17:59820469 BRIP1 G>C	17	59820469	59820469	G	C	BRIP1	c.2284C>G	NM_032043.2	NP_114432.2:p.(Arg762Gly)	NC_000017.10:g.59820469G>C	VUS	1 lab	141cabdd24
11:108186830 ATM G>A	11	108186830	108186830	G	A	ATM	c.6188G>A	NM_000051.3	NP_000042.3:p.(Gly2063Glu)	NC_000011.9:g.108186830G>A	VUS	1 lab	142543ae4b
5:1280477 TERT G>A	5	1280477	1280477	G	A	TERT	c.1770-24C>T	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1280477G>A	(Likely) benign	1 lab	143ac5f82c
1:15986736 RSC1A1 C>T	1	15986736	15986736	C	T	RSC1A1	c.373C>T	NM_006511.3	NP_006502.1:p.(Leu125Phe)	NC_000001.10:g.15986736C>T	(Likely) benign	1 lab	001f676916
7:124481403 POT1 T>A	7	124481403	124481403	T	A	POT1	c.1164-171A>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124481403T>A	(Likely) benign	1 lab	145bc4e2c6
13:32893645 BRCA2 T>G	13	32893645	32893645	T	G	BRCA2	c.316+183T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893645T>G	(Likely) benign	1 lab	14615fdb39
17:56811569 RAD51C G>A	17	56811569	56811569	G	A	RAD51C	c.1117G>A	NM_058216.1	NP_478123.1:p.(Glu373Lys)	NC_000017.10:g.56811569G>A	(Likely) benign	1 lab	147256184d
7:47882619 PKD1L1 G>T	7	47882619	47882619	G	T	PKD1L1	c.5386C>A	NM_138295.5	NP_612152.1:p.(Gln1796Lys)	NC_000007.13:g.47882619G>T	(Likely) benign	1 lab	001fe38249
2:197708729 PGAP1 C>T	2	197708729	197708729	C	T	PGAP1	c.2408G>A	NM_024989.4	NP_079265.2:p.(Arg803His)	NC_000002.11:g.197708729C>T	VUS	1 lab	0021065462
2:216177254 ATIC T>G	2	216177254	216177254	T	G	ATIC	c.53T>G	NM_004044.7	NP_004035.2:p.(Val18Gly)	NC_000002.11:g.216177254T>G	VUS	1 lab	0021490a96
17:41276211 BRCA1 AATAAAG>A	17	41276211	41276217	AATAAAG	A	BRCA1	c.-19-85_-19-80del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276212_41276217del	(Likely) benign	1 lab	15360133b3
15:44063383 PDIA3 CAAG>C	15	44063383	44063398	CAAG	C	PDIA3	c.1498_1500del	NM_005313.5	NP_005304.3:p.(Lys500del)	NC_000015.9:g.44063396_44063398del	VUS	1 lab	002278b9e8
2:48027838 MSH6 ACTG>A	2	48027838	48027841	ACTG	A	MSH6	c.2717_2719del	NM_000179.3	NP_000170.1:p.(Thr906_Val907delinsIle)	NC_000002.11:g.48027839_48027841del	(Likely) pathogenic	1 lab	15700b0ba5
17:41226395 BRCA1 CCAG>C	17	41226395	41226398	CCAG	C	BRCA1	c.4625_4627del	NM_007294.4	NP_009225.1:p.(Ser1542_Gly1543delinsTrp)	NC_000017.10:g.41226396_41226398del	(Likely) pathogenic	1 lab	1580d32e14
13:32937391 BRCA2 AAC>A	13	32937391	32937395	AAC	A	BRCA2	c.8055_8056del	NM_000059.4	NP_000050.3:p.(Leu2686CysfsTer6)	NC_000013.10:g.32937394_32937395del	(Likely) pathogenic	1 lab	15a259d511
7:124475294 POT1 AATAAAC>A	7	124475294	124475301	AATAAAC	A	POT1	c.1505+33_1505+38del	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124475296_124475301del	(Likely) benign	1 lab	15bf9a1c09
7:124469267 POT1 A>T	7	124469267	124469267	A	T	POT1	c.1594+41T>A	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124469267A>T	(Likely) benign	1 lab	15c77751fb
16:71423697 CALB2 T>A	16	71423697	71423697	T	A	CALB2	c.745T>A	NM_001740.5	NP_001731.2:p.(Ser249Thr)	NC_000016.9:g.71423697T>A	VUS	1 lab	002440ff62
X:70823549 GCNA A>G	X	70823549	70823549	A	G	GCNA	c.422A>G	NM_052957.5	NP_443189.1:p.(Asp141Gly)	NC_000023.10:g.70823549A>G	(Likely) benign	1 lab	00248d5c6a
17:41277233 BRCA1 C>T	17	41277233	41277233	C	T	BRCA1	c.-20+55G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277233C>T	(Likely) benign	1 lab	16164d47ab
3:52437376 BAP1 C>G	3	52437376	52437376	C	G	BAP1	c.1729+56G>C	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52437376C>G	(Likely) benign	1 lab	162b1513ea
13:32906843 BRCA2 AAAATACCCCTATTGCATATTTCTTCATGTGACC>A	13	32906843	32906879	AAAATACCCCTATTGCATATTTCTTCATGTGACC	A	BRCA2	c.1232_1264del	NM_000059.4	NP_000050.3:p.(Ile411_Gln421del)	NC_000013.10:g.32906847_32906879del	(Likely) pathogenic	1 lab	162bd69d6c
X:3241303 MXRA5 G>A	X	3241303	3241303	G	A	MXRA5	c.2423C>T	NM_015419.4	NP_056234.2:p.(Thr808Ile)	NC_000023.10:g.3241303G>A	VUS	1 lab	002502d056
17:18181059 TOP3A G>C	17	18181059	18181059	G	C	TOP3A	c.2757C>G	NM_004618.5	NP_004609.1:p.(Phe919Leu)	NC_000017.10:g.18181059G>C	VUS	1 lab	0025591647
17:41243787 BRCA1 TTAGAC>T	17	41243787	41243792	TTAGAC	T	BRCA1	c.3756_3760del	NM_007294.4	NP_009225.1:p.(Ser1253GlufsTer12)	NC_000017.10:g.41243788_41243792del	(Likely) pathogenic	1 lab	1686817cd4
17:41245562 BRCA1 G>GT	17	41245562	41245563	G	GT	BRCA1	c.1985dup	NM_007294.3	NP_009225.1:p.(His662GlnfsTer11)	NC_000017.10:g.41245563dup	(Likely) pathogenic	1 lab	16a490933b
17:7758411 TMEM88 G>C	17	7758411	7758411	G	C	TMEM88	c.19G>C	NM_203411.2	NP_981956.1:p.(Ala7Pro)	NC_000017.10:g.7758411G>C	(Likely) benign	1 lab	00261cbf02
2:48032740 MSH6 ATTTT>A	2	48032740	48032753	ATTTT	A	MSH6	c.3557-7_3557-4del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032750_48032753del	(Likely) benign	1 lab	16e46d32af
17:41249363 BRCA1 TAA>T	17	41249363	41249370	TAA	T	BRCA1	c.548-59_548-58del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249369_41249370del	(Likely) benign	1 lab	171ce5d1c5
13:32913045 BRCA2 AAC>A	13	32913045	32913047	AAC	A	BRCA2	c.4554_4555del	NM_000059.4	NP_000050.3:p.(Glu1518AspfsTer10)	NC_000013.10:g.32913046_32913047del	(Likely) pathogenic	1 lab	1726562847
17:56774284 RAD51C C>A	17	56774284	56774284	C	A	RAD51C	c.571+64C>A	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56774284C>A	(Likely) benign	1 lab	173fe67dc5
X:77150937 MAGT1 CTT>C	X	77150937	77150940	CTT	C	MAGT1	c.65_66del	NM_032121.5	NP_115497.4:p.(Lys22SerfsTer49)	NC_000023.10:g.77150939_77150940del	VUS	1 lab	25ef93d4ab
17:59926582 BRIP1 A>C	17	59926582	59926582	A	C	BRIP1	c.415T>G	NM_032043.2	NP_114432.2:p.(Ser139Ala)	NC_000017.10:g.59926582A>C	(Likely) benign	1 lab	17d1bf0bd3
16:70913529 HYDIN G>C	16	70913529	70913529	G	C	HYDIN	c.10346C>G	NM_001270974.2	NP_001257903.1:p.(Ala3449Gly)	NC_000016.9:g.70913529G>C	VUS	1 lab	00266dd912
22:29121063 CHEK2 C>T	22	29121063	29121063	C	T	CHEK2	c.494G>A	NM_007194.4	NP_009125.1:p.(Gly165Asp)	NC_000022.10:g.29121063C>T	VUS	1 lab	17da4d56ef
17:59821837 BRIP1 A>T	17	59821837	59821837	A	T	BRIP1	c.2213T>A	NM_032043.3	NP_114432.2:p.(Leu738Ter)	NC_000017.10:g.59821837A>T	(Likely) pathogenic	1 lab	17f833ba5d
Y:6932171 TBL1Y G>C	Y	6932171	6932171	G	C	TBL1Y	c.438G>C	NM_033284.2	NP_150600.1:p.(Glu146Asp)	NC_000024.9:g.6932171G>C	VUS	1 lab	002963e5a6
13:32914640 BRCA2 GTA>G	13	32914640	32914642	GTA	G	BRCA2	c.6149_6150del	NM_000059.4	NP_000050.3:p.(Val2050GlufsTer9)	NC_000013.10:g.32914641_32914642del	(Likely) pathogenic	1 lab	1883c48875
9:116810176 ZNF618 A>G	9	116810176	116810176	A	G	ZNF618	c.1250A>G	NM_001318042.2	NP_001304971.1:p.(Asp417Gly)	NC_000009.11:g.116810176A>G	VUS	1 lab	002b6ec147
1:172501920 SUCO AGC>A	1	172501920	172501927	AGC	A	SUCO	c.314_315del	NM_016227.3	NP_057311.3:p.(Ala105GlufsTer22)	NC_000001.10:g.172501926_172501927del	VUS	1 lab	4c4f7f89f9
9:43861204 CNTNAP3B G>A	9	43861204	43861204	G	A	CNTNAP3B	c.2078G>A	NM_001201380.1	NP_001188309.1:p.(Arg693Gln)	NC_000009.11:g.43861204G>A	(Likely) benign	1 lab	048e5f6875
5:176631235 NSD1 A>AAG	5	176631235	176631239	A	AAG	NSD1	c.1181_1182dup	NM_022455.5	NP_071900.2:p.(Leu395SerfsTer25)	NC_000005.9:g.176631238_176631239dup	(Likely) pathogenic	1 lab	002cb5ae46
11:17408546 KCNJ11 G>A	11	17408546	17408546	G	A	KCNJ11	c.1093C>T	NM_000525.4	NP_000516.3:p.(Arg365Cys)	NC_000011.9:g.17408546G>A	(Likely) benign	1 lab	002d4b8b65
17:56811548 RAD51C C>T	17	56811548	56811548	C	T	RAD51C	c.1096C>T	NM_058216.1	NP_478123.1:p.(Arg366Trp)	NC_000017.10:g.56811548C>T	VUS	1 lab	19b013f0dc
17:33433932 RAD51D A>C	17	33433932	33433932	A	C	RAD51D	c.480+75T>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33433932A>C	(Likely) benign	1 lab	19b5769b01
11:108098460 ATM AA>GT	11	108098460	108098461	AA	GT	ATM	c.72+37_72+38delinsGT	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098460_108098461delinsGT	(Likely) benign	1 lab	19c91750f6
3:69037713 EOGT C>T	3	69037713	69037713	C	T	EOGT	c.940G>A	NM_001278689.2	NP_001265618.1:p.(Ala314Thr)	NC_000003.11:g.69037713C>T	VUS	1 lab	002e1b0635
16:23632833 PALB2 T>G	16	23632833	23632833	T	G	PALB2	c.2997-34A>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23632833T>G	(Likely) benign	1 lab	1a62efca89
16:23646658 PALB2 C>T	16	23646658	23646658	C	T	PALB2	c.1209G>A	NM_024675.3	NP_078951.2:p.(Leu403=)	NC_000016.9:g.23646658C>T	(Likely) benign	1 lab	1a837a3cf4
11:108114791 ATM A>G	11	108114791	108114791	A	G	ATM	c.608A>G	NM_000051.3	NP_000042.3:p.(Asp203Gly)	NC_000011.9:g.108114791A>G	(Likely) benign	1 lab	1b47b7244a
16:67691477 ACD A>T	16	67691477	67691477	A	T	ACD	c.*32T>A	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67691477A>T	(Likely) benign	1 lab	1b62d86061
17:56774005 RAD51C C>T	17	56774005	56774005	C	T	RAD51C	c.405-49C>T	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56774005C>T	(Likely) benign	1 lab	1b7662983e
6:56917508 KIAA1586 C>T	6	56917508	56917508	C	T	KIAA1586	c.211C>T	NM_020931.4	NP_065982.1:p.(Arg71Ter)	NC_000006.11:g.56917508C>T	(Likely) benign	1 lab	00307badcf
17:41226643 BRCA1 G>A	17	41226643	41226643	G	A	BRCA1	c.4485-105C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226643G>A	(Likely) benign	1 lab	1bddd68a35
22:29105985 CHEK2 AATACT>A	22	29105985	29105990	AATACT	A	CHEK2	c.846+4_846+8del	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29105986_29105990del	(Likely) pathogenic	1 lab	1c23689de9
7:6022293 PMS2 C>G	7	6022293	6022293	C	G	PMS2	c.2174+162G>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022293C>G	(Likely) benign	1 lab	1c3ff94a77
8:67590151 C8orf44-SGK3 C>T	8	67590151	67590151	C	T	C8orf44-SGK3	c.-481-1805C>T	NM_001204173.1	NP_001191102.1:p.?	NC_000008.10:g.67590151C>T	(Likely) benign	1 lab	0591da11ab
3:7721955 GRM7 G>A	3	7721955	7721955	G	A	GRM7	c.2671G>A	NM_000844.4	NP_000835.1:p.(Glu891Lys)	NC_000003.11:g.7721955G>A	(Likely) pathogenic	1 lab	0030b71332
1:156565884 GPATCH4 TCGCCCCTCACAGG>T	1	156565884	156565898	TCGCCCCTCACAGG	T	GPATCH4	c.467_479del	NM_015590.3	NP_056405.2:p.(Ala156GlufsTer13)	NC_000001.10:g.156565886_156565898del	VUS	1 lab	5b82df48aa
16:89251632 CDH15 A>C	16	89251632	89251632	A	C	CDH15	c.554A>C	NM_004933.3	NP_004924.1:p.(Asp185Ala)	NC_000016.9:g.89251632A>C	VUS	1 lab	003298e3b1
7:150835383 AGAP3 C>G	7	150835383	150835383	C	G	AGAP3	c.1649C>G	NM_031946.7	NP_114152.3:p.(Pro550Arg)	NC_000007.13:g.150835383C>G	(Likely) benign	1 lab	0032fdb304
2:179411401 TTN A>G	2	179411401	179411401	A	G	TTN	c.94754T>C	NM_001267550.2	NP_001254479.2:p.(Leu31585Ser)	NC_000002.11:g.179411401A>G	VUS	1 lab	0035da013f
22:24176413 SMARCB1 G>A	22	24176413	24176413	G	A	SMARCB1	c.*46G>A	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24176413G>A	(Likely) benign	1 lab	1cd9728d6d
9:135939776 CEL G>A	9	135939776	135939776	G	A	CEL	c.67-15G>A	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135939776G>A	(Likely) benign	1 lab	00363ba0ec
10:10888054 CELF2 C>A	10	10888054	10888054	C	A	CELF2	c.-55-73873C>A	NM_001326317.1	NP_001313246.1:p.?	NC_000010.10:g.10888054C>A	VUS	1 lab	059fa072fb
16:68835622 CDH1 C>T	16	68835622	68835622	C	T	CDH1	c.213C>T	NM_004360.3	NP_004351.1:p.(Leu71=)	NC_000016.9:g.68835622C>T	(Likely) benign	1 lab	1d885f3efd
19:17445832 GTPBP3 GT>G	19	17445832	17445833	GT	G	GTPBP3	c.21del	NM_001195422.1	NP_001182351.1:p.(His9ThrfsTer29)	NC_000019.9:g.17445833del	VUS	1 lab	762b920886
13:32929015 BRCA2 A>C	13	32929015	32929015	A	C	BRCA2	c.7025A>C	NM_000059.3	NP_000050.2:p.(Gln2342Pro)	NC_000013.10:g.32929015A>C	VUS	1 lab	1e21fab8cb
17:33446519 RAD51D C>T	17	33446519	33446519	C	T	RAD51D	c.82+32G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446519C>T	(Likely) benign	1 lab	1e4f61e726
12:58145156 CDK4 C>T	12	58145156	58145156	C	T	CDK4	c.219-31G>A	NM_000075.4	NP_000066.1:p.?	NC_000012.11:g.58145156C>T	(Likely) benign	1 lab	1e5636a505
13:32954251 BRCA2 AGG>A	13	32954251	32954253	AGG	A	BRCA2	c.9226_9227del	NM_000059.4	NP_000050.3:p.(Gly3076IlefsTer34)	NC_000013.10:g.32954252_32954253del	(Likely) pathogenic	1 lab	1e57ac43be
13:32921013 BRCA2 G>A	13	32921013	32921013	G	A	BRCA2	c.6987G>A	NM_000059.3	NP_000050.2:p.(Pro2329=)	NC_000013.10:g.32921013G>A	(Likely) benign	1 lab	1e7641f1e9
2:24533581 ITSN2 T>C	2	24533581	24533581	T	C	ITSN2	c.353-20A>G	NM_147152.3	NP_671494.2:p.?	NC_000002.11:g.24533581T>C	(Likely) benign	1 lab	34271c22d4
X:123468071 TEX13D C>CAGA	X	123468071	123468076	C	CAGA	TEX13D	c.1307_1309dup	NM_001355534.2	NP_001342463.1:p.(Glu436dup)	NC_000023.10:g.123468074_123468076dup	VUS	1 lab	0037396717
X:70470308 ZMYM3 G>A	X	70470308	70470308	G	A	ZMYM3	c.1047C>T	NM_201599.3	NP_963893.1:p.(Gly349=)	NC_000023.10:g.70470308G>A	VUS	1 lab	0039664519
2:47641558 MSH2 GTAAAAA>G	2	47641558	47641564	GTAAAAA	G	MSH2	c.942+2_942+7del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559_47641564del	(Likely) benign	1 lab	216e0ee995
11:108167983 ATM TTTAAAC>T	11	108167983	108167990	TTTAAAC	T	ATM	c.4910-29_4910-24del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108167985_108167990del	(Likely) benign	1 lab	1f3b5d3c95
12:40876899 MUC19 AAGTGACAGGGACAACTAGACTATCAGCTGG>A	12	40876899	40876945	AAGTGACAGGGACAACTAGACTATCAGCTGG	A	MUC19	c.10162_10191del	NM_173600.2	NP_775871.2:p.(Arg3388_Thr3397del)	NC_000012.11:g.40876916_40876945del	(Likely) benign	1 lab	7d7a46f685
X:3238938 MXRA5 A>T	X	3238938	3238938	A	T	MXRA5	c.4788T>A	NM_015419.4	NP_056234.2:p.(Asp1596Glu)	NC_000023.10:g.3238938A>T	VUS	1 lab	0039be054e
X:110956478 ALG13 C>G	X	110956478	110956478	C	G	ALG13	c.958C>G	NM_001099922.3	NP_001093392.1:p.(Pro320Ala)	NC_000023.10:g.110956478C>G	VUS	1 lab	003a6213f6
15:50190274 ATP8B4 T>C	15	50190274	50190274	T	C	ATP8B4	c.2464A>G	NM_024837.4	NP_079113.2:p.(Met822Val)	NC_000015.9:g.50190274T>C	VUS	1 lab	003a6f3420
13:32907533 BRCA2 GTC>G	13	32907533	32907536	GTC	G	BRCA2	c.1909+11_1909+12del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907535_32907536del	(Likely) benign	1 lab	1fbab854b3
11:108165778 ATM C>T	11	108165778	108165778	C	T	ATM	c.4901C>T	NM_000051.3	NP_000042.3:p.(Ala1634Val)	NC_000011.9:g.108165778C>T	(Likely) benign	1 lab	1fdf0c0385
16:23615042 PALB2 T>TAAAA	16	23615042	23615056	T	TAAAA	PALB2	c.3351-56_3351-53dup	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23615053_23615056dup	(Likely) benign	1 lab	2010e79e8b
7:31692250 ITPRID1 C>T	7	31692250	31692250	C	T	ITPRID1	c.2942C>T	NM_001257967.3	NP_001244896.2:p.(Pro981Leu)	NC_000007.13:g.31692250C>T	VUS	1 lab	003c87f163
16:23647663 PALB2 GGA>G	16	23647663	23647665	GGA	G	PALB2	c.212-10_212-9del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23647664_23647665del	(Likely) benign	1 lab	20b1e7488c
11:108100105 ATM G>GTT	11	108100105	108100119	G	GTT	ATM	c.331+68_331+69dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108100118_108100119dup	(Likely) benign	1 lab	20b42b070c
2:48033195 MSH6 G>A	2	48033195	48033195	G	A	MSH6	c.3647-148G>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033195G>A	(Likely) benign	1 lab	20bd05d41f
11:108119599 ATM C>T	11	108119599	108119599	C	T	ATM	c.1066-61C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108119599C>T	(Likely) benign	1 lab	20d06943af
11:108150360 ATM C>G	11	108150360	108150360	C	G	ATM	c.3402+25C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108150360C>G	(Likely) benign	1 lab	2104124bd7
7:6026743 PMS2 G>A	7	6026743	6026743	G	A	PMS2	c.1653C>T	NM_000535.5	NP_000526.1:p.(Cys551=)	NC_000007.13:g.6026743G>A	(Likely) benign	1 lab	212f11d7a3
5:149502705 PDGFRB G>A	5	149502705	149502705	G	A	PDGFRB	c.2083C>T	NM_002609.4	NP_002600.1:p.(Arg695Cys)	NC_000005.9:g.149502705G>A	VUS	1 lab	003e9a87d4
17:7579886 TP53 G>A	17	7579886	7579886	G	A	TP53	c.27C>T	NM_000546.5	NP_000537.3:p.(Ser9=)	NC_000017.10:g.7579886G>A	(Likely) benign	1 lab	22438c8207
6:152557964 SYNE1 T>TA	6	152557964	152557965	T	TA	SYNE1	c.20186dup	NM_182961.4	NP_892006.3:p.(Thr6730AsnfsTer9)	NC_000006.11:g.152557965dup	(Likely) pathogenic	1 lab	003f3df6a8
X:37061600 FTHL18P G>T	X	37061600	37061600	G	T	FTHL18P	c.162C>A	NM_001271682.1	NP_001258611.1:p.(Ser54Arg)	NC_000023.10:g.37061600G>T	VUS	1 lab	05e591de5f
10:89692731 PTEN G>GT	10	89692731	89692740	G	GT	PTEN	c.254-30dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89692740dup	(Likely) benign	1 lab	226f94f8c1
11:108205896 ATM A>T	11	108205896	108205896	A	T	ATM	c.8151+60A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205896A>T	(Likely) benign	1 lab	229be5f89e
6:143081401 HIVEP2 G>C	6	143081401	143081401	G	C	HIVEP2	c.6024C>G	NM_006734.4	NP_006725.3:p.(Asp2008Glu)	NC_000006.11:g.143081401G>C	(Likely) benign	1 lab	003f85dd3c
17:41197542 BRCA1 CCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGT>C	17	41197542	41197610	CCAGAAGTCCTTTTCAGGCTGATGTACATAAAATATTTAGTAGCCAGGACAGTAGAAGGACTGAAGAGT	C	BRCA1	c.*85_*152del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197543_41197610del	(Likely) benign	1 lab	233a449780
7:6022510 PMS2 ACT>A	7	6022510	6022512	ACT	A	PMS2	c.2117_2118del	NM_000535.7	NP_000526.2:p.(Lys706IlefsTer2)	NC_000007.13:g.6022511_6022512del	(Likely) pathogenic	1 lab	233be80e8e
7:144107242 NOBOX G>A	7	144107242	144107242	G	A	NOBOX	c.79C>T	NM_001080413.3	NP_001073882.3:p.(Gln27Ter)	NC_000007.13:g.144107242G>A	(Likely) pathogenic	1 lab	05f91a164a
17:41276151 BRCA1 ACAT>A	17	41276151	41276154	ACAT	A	BRCA1	c.-19-22_-19-20del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276152_41276154del	(Likely) benign	1 lab	237cc11e14
17:1629409 WDR81 G>T	17	1629409	1629409	G	T	WDR81	c.1156G>T	NM_001163809.2	NP_001157281.1:p.(Val386Leu)	NC_000017.10:g.1629409G>T	VUS	1 lab	00412fb754
13:32954020 BRCA2 GAC>G	13	32954020	32954023	GAC	G	BRCA2	c.9089_9090del	NM_000059.4	NP_000050.3:p.(Thr3030LysfsTer13)	NC_000013.10:g.32954022_32954023del	(Likely) pathogenic	1 lab	23c145ba92
7:144098960 NOBOX ACCCCTTGTGAGTTC>A	7	144098960	144098976	ACCCCTTGTGAGTTC	A	NOBOX	c.280_292+1del	NM_001080413.3	NP_001073882.3:p.?	NC_000007.13:g.144098963_144098976del	VUS	1 lab	7e3a6d84cc
17:41256088 BRCA1 A>G	17	41256088	41256088	A	G	BRCA1	c.441+51T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256088A>G	(Likely) benign	1 lab	24183cd263
17:7577487 TP53 G>A	17	7577487	7577487	G	A	TP53	c.782+12C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577487G>A	(Likely) benign	1 lab	242f575ffe
2:215657181 BARD1 TTA>T	2	215657181	215657183	TTA	T	BARD1	c.216-14_216-13del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657182_215657183del	(Likely) benign	1 lab	24642bbfef
10:1130445 WDR37 A>C	10	1130445	1130445	A	C	WDR37	c.499A>C	NM_014023.4	NP_054742.2:p.(Thr167Pro)	NC_000010.10:g.1130445A>C	(Likely) benign	1 lab	00432c6f93
19:46443725 NOVA2 T>G	19	46443725	46443725	T	G	NOVA2	c.875A>C	NM_002516.4	NP_002507.1:p.(Asn292Thr)	NC_000019.9:g.46443725T>G	(Likely) benign	1 lab	004335a5ca
16:30964962 ORAI3 C>T	16	30964962	30964962	C	T	ORAI3	c.685C>T	NM_152288.3	NP_689501.1:p.(Arg229Trp)	NC_000016.9:g.30964962C>T	(Likely) benign	1 lab	00439cabd7
13:32937562 BRCA2 G>GAATGGC	13	32937562	32937569	G	GAATGGC	BRCA2	c.8225_8230dup	NM_000059.3	NP_000050.2:p.(Asn2742_Gly2743dup)	NC_000013.10:g.32937564_32937569dup	VUS	1 lab	24d7a580c4
16:2152089 PKD1 C>T	16	2152089	2152089	C	T	PKD1	c.9370G>A	NM_001009944.3	NP_001009944.3:p.(Val3124Ile)	NC_000016.9:g.2152089C>T	VUS	1 lab	0043b2ffb1
5:149449616 CSF1R C>T	5	149449616	149449616	C	T	CSF1R	c.1330G>A	NM_001288705.3	NP_001275634.1:p.(Ala444Thr)	NC_000005.9:g.149449616C>T	(Likely) benign	1 lab	00448fb09c
3:37067091 MLH1 ATATATATAT>A	3	37067091	37067101	ATATATATAT	A	MLH1	c.1039-35_1039-27del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067093_37067101del	(Likely) benign	1 lab	2563160841
17:41275985 BRCA1 G>C	17	41275985	41275985	G	C	BRCA1	c.80+49C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41275985G>C	(Likely) benign	1 lab	2572e27001
9:130164921 SLC2A8 G>C	9	130164921	130164921	G	C	SLC2A8	c.612G>C	NM_014580.5	NP_055395.2:p.(Glu204Asp)	NC_000009.11:g.130164921G>C	VUS	1 lab	00458465f3
X:88009089 CPXCR1 G>A	X	88009089	88009089	G	A	CPXCR1	c.674G>A	NM_033048.6	NP_149037.5:p.(Gly225Glu)	NC_000023.10:g.88009089G>A	VUS	1 lab	00471d69bf
17:33445678 RAD51D G>A	17	33445678	33445678	G	A	RAD51D	c.145-40C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445678G>A	(Likely) benign	1 lab	25db84d72b
13:25671310 PABPC3 TTATGA>T	13	25671310	25671316	TTATGA	T	PABPC3	c.976_980del	NM_030979.3	NP_112241.2:p.(Met326GlyfsTer21)	NC_000013.10:g.25671312_25671316del	VUS	1 lab	0047e62d6d
13:32953372 BRCA2 C>A	13	32953372	32953372	C	A	BRCA2	c.8755-82C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953372C>A	(Likely) benign	1 lab	25f7bea5d8
13:32912212 BRCA2 G>A	13	32912212	32912212	G	A	BRCA2	c.3720G>A	NM_000059.4	NP_000050.3:p.(Leu1240=)	NC_000013.10:g.32912212G>A	(Likely) benign	1 lab	26062fbd93
20:50715063 ZFP64 G>A	20	50715063	50715063	G	A	ZFP64	c.170C>T	NM_001319146.1	NP_001306075.1:p.(Pro57Leu)	NC_000020.10:g.50715063G>A	(Likely) benign	1 lab	0626ebfb0e
12:2775856 CACNA1C C>T	12	2775856	2775856	C	T	CACNA1C	c.4531C>T	NM_000719.7	NP_000710.5:p.(Arg1511Cys)	NC_000012.11:g.2775856C>T	VUS	1 lab	0049666b7b
7:6022394 PMS2 T>C	7	6022394	6022394	T	C	PMS2	c.2174+61A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6022394T>C	(Likely) benign	1 lab	30abec9be0
17:7576510 TP53 CCATTTTCAACTTACAAT>C	17	7576510	7576527	CCATTTTCAACTTACAAT	C	TP53	c.993+326_993+342del	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7576511_7576527del	(Likely) benign	1 lab	2637ec4da5
11:108155141 ATM A>AG	11	108155141	108155142	A	AG	ATM	c.3935dup	NM_000051.3	NP_000042.3:p.(Glu1313ArgfsTer8)	NC_000011.9:g.108155142dup	(Likely) pathogenic	1 lab	2645764958
2:179451899 TTN C>CAT	2	179451899	179451903	C	CAT	TTN	c.64037_64038dup	NM_001267550.2	NP_001254479.2:p.(Gly21347MetfsTer19)	NC_000002.11:g.179451902_179451903dup	(Likely) pathogenic	1 lab	004a4e77d0
X:70747864 TAF1 A>C	X	70747864	70747864	A	C	TAF1	n.5638-528A>C	NR_104387.1		NC_000023.10:g.70747864A>C	(Likely) benign	1 lab	0631633ce9
13:32905053 BRCA2 C>G	13	32905053	32905053	C	G	BRCA2	c.682-3C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905053C>G	VUS	1 lab	26b0325ba9
2:47707951 MSH2 G>T	2	47707951	47707951	G	T	MSH2	c.2575G>T	NM_000251.2	NP_000242.1:p.(Glu859Ter)	NC_000002.11:g.47707951G>T	(Likely) pathogenic	1 lab	26b487b4d1
7:124481420 POT1 T>A	7	124481420	124481420	T	A	POT1	c.1164-188A>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124481420T>A	(Likely) benign	1 lab	26d3105d26
13:32954044 BRCA2 A>G	13	32954044	32954044	A	G	BRCA2	c.9111A>G	NM_000059.3	NP_000050.2:p.(Gln3037=)	NC_000013.10:g.32954044A>G	VUS	1 lab	26e103cead
X:119004571 RNF113A C>T	X	119004571	119004571	C	T	RNF113A	c.1006G>A	NM_006978.3	NP_008909.1:p.(Asp336Asn)	NC_000023.10:g.119004571C>T	(Likely) benign	1 lab	004be17782
13:32968777 BRCA2 T>C	13	32968777	32968777	T	C	BRCA2	c.9257-49T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968777T>C	(Likely) benign	1 lab	2700beb169
11:108098260 ATM TTTCTC>T	11	108098260	108098266	TTTCTC	T	ATM	c.-30-60_-30-56del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098262_108098266del	(Likely) benign	1 lab	272035e76f
X:619504 SHOX CT>C	X	619504	619517	CT	C	SHOX	c.634-3del	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.619517del	(Likely) benign	1 lab	7e83009717
11:108183332 ATM T>C	11	108183332	108183332	T	C	ATM	c.6006+107T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108183332T>C	(Likely) benign	1 lab	27533e3b3a
11:121039550 TECTA A>C	11	121039550	121039550	A	C	TECTA				NC_000011.9:g.121039550A>C	(Likely) pathogenic	1 lab	0252f2e124
15:90210825 PLIN1 C>T	15	90210825	90210825	C	T	PLIN1	c.963+8G>A	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90210825C>T	(Likely) benign	1 lab	004c63b226
11:61064377 MISSING G>A	11	61064377	61064377	G	A	MISSING				NC_000011.9:g.61064377G>A	(Likely) benign	1 lab	004c835411
13:32929141 BRCA2 A>G	13	32929141	32929141	A	G	BRCA2	c.7151A>G	NM_000059.3	NP_000050.2:p.(Gln2384Arg)	NC_000013.10:g.32929141A>G	(Likely) benign	1 lab	27b6cfe0c5
22:29083894 CHEK2 A>C	22	29083894	29083894	A	C	CHEK2	c.1623T>G	NM_007194.4	NP_009125.1:p.(Ala541=)	NC_000022.10:g.29083894A>C	(Likely) benign	1 lab	27ebc6c551
22:21370315 P2RX6 C>T	22	21370315	21370315	C	T	P2RX6	c.249C>T	NM_005446.5	NP_005437.2:p.(Ser83=)	NC_000022.10:g.21370315C>T	(Likely) benign	1 lab	004c8b39b7
13:32913836 BRCA2 C>T	13	32913836	32913836	C	T	BRCA2	c.5344C>T	NM_000059.3	NP_000050.2:p.(Gln1782Ter)	NC_000013.10:g.32913836C>T	(Likely) pathogenic	1 lab	284652390a
13:32905148 BRCA2 A>C	13	32905148	32905148	A	C	BRCA2	c.774A>C	NM_000059.3	NP_000050.2:p.(Gln258His)	NC_000013.10:g.32905148A>C	(Likely) benign	1 lab	285fc3e174
17:62019252 SCN4A C>G	17	62019252	62019252	C	G	SCN4A	c.4390G>C	NM_000334.4	NP_000325.4:p.(Gly1464Arg)	NC_000017.10:g.62019252C>G	VUS	1 lab	004ce60258
5:134369505 PITX1 G>A	5	134369505	134369505	G	A	PITX1	c.67C>T	NM_002653.5	NP_002644.4:p.(Pro23Ser)	NC_000005.9:g.134369505G>A	VUS	1 lab	004d088158
11:108121409 ATM CCT>C	11	108121409	108121411	CCT	C	ATM	c.1236-18_1236-17del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121410_108121411del	(Likely) benign	1 lab	28ed7178a1
2:47641558 MSH2 GTA>G	2	47641558	47641560	GTA	G	MSH2	c.942+2_942+3del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559_47641560del	(Likely) benign	1 lab	290c7cf313
17:7579642 TP53 CCCCCCAGCCCTCCAGGT>C	17	7579642	7579663	CCCCCCAGCCCTCCAGGT	C	TP53	c.96+41_97-53del	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7579647_7579663del	(Likely) benign	1 lab	291680e004
6:43970503 SCIRT CGCGGCG>C	6	43970503	43970531	CGCGGCG	C	SCIRT	n.157-1656_157-1651del	NR_125864.1		NC_000006.11:g.43970526_43970531del	(Likely) benign	1 lab	8e396b85c4
11:108114661 ATM A>ATT	11	108114661	108114676	A	ATT	ATM	c.497-5_497-4dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108114675_108114676dup	(Likely) benign	1 lab	29560afea9
16:23615042 PALB2 T>TA	16	23615042	23615056	T	TA	PALB2	c.3351-53dup	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23615056dup	(Likely) benign	1 lab	297434a5a3
12:49431290 KMT2D A>ATGC	12	49431290	49431304	A	ATGC	KMT2D	c.9846_9848dup	NM_003482.4	NP_003473.3:p.(Gln3282dup)	NC_000012.11:g.49431302_49431304dup	VUS	1 lab	004ec45e4b
X:153588487 FLNA G>A	X	153588487	153588487	G	A	FLNA	c.3676C>T	NM_001110556.2	NP_001104026.1:p.(Pro1226Ser)	NC_000023.10:g.153588487G>A	VUS	1 lab	004f0c7d9e
7:124492038 POT1 T>C	7	124492038	124492038	T	C	POT1	c.870-33A>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124492038T>C	(Likely) benign	1 lab	2a3d8a990e
7:140494209 BRAF G>A	7	140494209	140494209	G	A	BRAF	c.1039C>T	NM_004333.4	NP_004324.2:p.(Arg347Ter)	NC_000007.13:g.140494209G>A	VUS	1 lab	2a8d288d55
17:41245129 BRCA1 C>T	17	41245129	41245129	C	T	BRCA1	c.2419G>A	NM_007294.3	NP_009225.1:p.(Ala807Thr)	NC_000017.10:g.41245129C>T	(Likely) benign	1 lab	2a969149ba
2:169791878 ABCB11 G>A	2	169791878	169791878	G	A	ABCB11	c.2872C>T	NM_003742.4	NP_003733.2:p.(Arg958Trp)	NC_000002.11:g.169791878G>A	(Likely) benign	1 lab	004f48b4cf
7:44189416 GCK C>T	7	44189416	44189416	C	T	GCK	c.622G>A	NM_000162.5	NP_000153.1:p.(Ala208Thr)	NC_000007.13:g.44189416C>T	(Likely) pathogenic	1 lab	00500412c5
22:29121278 CHEK2 T>C	22	29121278	29121278	T	C	CHEK2	c.397A>G	NM_007194.4	NP_009125.1:p.(Thr133Ala)	NC_000022.10:g.29121278T>C	VUS	1 lab	2ad3938013
2:48033272 MSH6 ATTTTTG>A	2	48033272	48033282	ATTTTTG	A	MSH6	c.3647-66_3647-61del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033277_48033282del	(Likely) benign	1 lab	2b3802791f
16:23637747 PALB2 G>A	16	23637747	23637747	G	A	PALB2	c.2587-29C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23637747G>A	(Likely) benign	1 lab	2b60ce01a5
13:48881653 RB1 A>C	13	48881653	48881653	A	C	RB1	c.264+111A>C	NM_000321.2	NP_000312.2:p.?	NC_000013.10:g.48881653A>C	(Likely) benign	1 lab	2b948b903b
19:50909779 POLD1 C>T	19	50909779	50909779	C	T	POLD1	c.1494+5C>T	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50909779C>T	(Likely) benign	1 lab	2d3a61a1dc
13:32945163 BRCA2 AAT>A	13	32945163	32945167	AAT	A	BRCA2	c.8561_8562del	NM_000059.4	NP_000050.3:p.(Tyr2854CysfsTer14)	NC_000013.10:g.32945166_32945167del	(Likely) pathogenic	1 lab	2b9cc8cd8c
11:117308767 DSCAML1 C>T	11	117308767	117308767	C	T	DSCAML1	c.4276G>A	NM_020693.4	NP_065744.3:p.(Glu1426Lys)	NC_000011.9:g.117308767C>T	VUS	1 lab	0054d29174
3:134078210 AMOTL2 C>T	3	134078210	134078210	C	T	AMOTL2	c.2019G>A	NM_016201.4	NP_057285.3:p.(Ala673=)	NC_000003.11:g.134078210C>T	VUS	1 lab	0056983d60
13:32913269 BRCA2 G>C	13	32913269	32913269	G	C	BRCA2	c.4777G>C	NM_000059.3	NP_000050.2:p.(Glu1593Gln)	NC_000013.10:g.32913269G>C	(Likely) benign	1 lab	2bc2fb9e8c
13:32944597 BRCA2 AC>A	13	32944597	32944600	AC	A	BRCA2	c.8393del	NM_000059.4	NP_000050.3:p.(Pro2798LeufsTer23)	NC_000013.10:g.32944600del	(Likely) pathogenic	1 lab	2bc77fda90
3:37070221 MLH1 C>T	3	37070221	37070221	C	T	MLH1	c.1410-54C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37070221C>T	(Likely) benign	1 lab	2bdb8ba7fa
13:32906628 BRCA2 C>T	13	32906628	32906628	C	T	BRCA2	c.1013C>T	NM_000059.3	NP_000050.2:p.(Ala338Val)	NC_000013.10:g.32906628C>T	(Likely) benign	1 lab	2c0f72fb90
2:215593432 BARD1 TCA>T	2	215593432	215593438	TCA	T	BARD1	c.2300_2301del	NM_000465.4	NP_000456.2:p.(Val767AspfsTer4)	NC_000002.11:g.215593437_215593438del	(Likely) pathogenic	1 lab	2c2605f2b8
5:1280339 TERT G>A	5	1280339	1280339	G	A	TERT	c.1884C>T	NM_198253.2	NP_937983.2:p.(Asp628=)	NC_000005.9:g.1280339G>A	(Likely) benign	1 lab	2c26be3350
2:69664538 NFU1 C>T	2	69664538	69664538	C	T	NFU1	c.17G>A	NM_001002755.4	NP_001002755.1:p.(Arg6Lys)	NC_000002.11:g.69664538C>T	(Likely) benign	1 lab	0056b7648d
6:74473330 CD109 C>A	6	74473330	74473330	C	A	CD109	c.1029C>A	NM_133493.5	NP_598000.2:p.(Phe343Leu)	NC_000006.11:g.74473330C>A	(Likely) benign	1 lab	0056c0b765
3:37067050 MLH1 A>G	3	37067050	37067050	A	G	MLH1	c.1039-78A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067050A>G	(Likely) benign	1 lab	2c7bbbee1e
22:40757270 ADSL C>A	22	40757270	40757270	C	A	ADSL	c.793-7C>A	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40757270C>A	VUS	1 lab	005ca1cdbb
2:215609960 BARD1 T>C	2	215609960	215609960	T	C	BARD1	c.1811-77A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215609960T>C	(Likely) benign	1 lab	2cb544dd7f
2:48033771 MSH6 C>T	2	48033771	48033771	C	T	MSH6	c.3982C>T	NM_000179.2	NP_000170.1:p.(Gln1328Ter)	NC_000002.11:g.48033771C>T	(Likely) pathogenic	1 lab	2cc7429035
2:166172087 SCN2A G>A	2	166172087	166172087	G	A	SCN2A				NC_000002.11:g.166172087G>A	VUS	1 lab	dafa225597
17:41244860 BRCA1 ACTT>A	17	41244860	41244863	ACTT	A	BRCA1	c.2685_2687del	NM_007294.4	NP_009225.1:p.(Gln895_Ser896delinsHis)	NC_000017.10:g.41244861_41244863del	(Likely) pathogenic	1 lab	2d545327a3
14:88459783 GALC T>C	14	88459783	88459783	T	C	GALC	c.61A>G	NM_001201402.1	NP_001188331.1:p.(Ile21Val)	NC_000014.8:g.88459783T>C	(Likely) benign	1 lab	0702174513
8:145737677 RECQL4 TCCA>T	8	145737677	145737681	TCCA	T	RECQL4	c.3083_3085del	NM_004260.4	NP_004251.4:p.(Val1028del)	NC_000008.10:g.145737679_145737681del	VUS	1 lab	0056e8ffe0
X:102962387 GLRA4 T>C	X	102962387	102962387	T	C	GLRA4	n.1431A>G	NR_164162.1		NC_000023.10:g.102962387T>C	(Likely) benign	1 lab	079d9227b6
20:60888140 LAMA5 G>A	20	60888140	60888140	G	A	LAMA5	c.8955+4C>T	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60888140G>A	(Likely) benign	1 lab	00582921d8
1:6228301 CHD5 A>T	1	6228301	6228301	A	T	CHD5	c.116T>A	NM_015557.3	NP_056372.1:p.(Phe39Tyr)	NC_000001.10:g.6228301A>T	VUS	1 lab	0059ff2303
14:65544614 MAX C>T	14	65544614	65544614	C	T	MAX	c.295+17G>A	NM_145113.3	NP_660088.1:p.?	NC_000014.8:g.65544614C>T	(Likely) benign	1 lab	2d9e45a777
17:59857598 BRIP1 CCA>C	17	59857598	59857600	CCA	C	BRIP1	c.1935+22_1935+23del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857599_59857600del	(Likely) benign	1 lab	2de6c038e0
11:105775927 GRIA4 G>A	11	105775927	105775927	G	A	GRIA4	c.1058G>A	NM_000829.4	NP_000820.4:p.(Arg353Gln)	NC_000011.9:g.105775927G>A	(Likely) benign	1 lab	005b4fd4a5
7:101695434 CUX1 G>A	7	101695434	101695434	G	A	CUX1	c.190-18185G>A	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101695434G>A	(Likely) benign	1 lab	005b9d1d35
16:68771248 CDH1 C>G	16	68771248	68771248	C	G	CDH1	c.-71C>G	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68771248C>G	(Likely) benign	1 lab	2e8e45566b
11:2170468 IGF2 C>T	11	2170468	2170468	C	T	IGF2	c.-361G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170468C>T	(Likely) benign	1 lab	081b341aad
17:59934306 BRIP1 T>TA	17	59934306	59934307	T	TA	BRIP1	c.379+112dup	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59934307dup	(Likely) benign	1 lab	2ee6577632
20:31023052 ASXL1 G>T	20	31023052	31023052	G	T	ASXL1	c.2537G>T	NM_015338.6	NP_056153.2:p.(Ser846Ile)	NC_000020.10:g.31023052G>T	(Likely) benign	1 lab	005edcacba
13:20625672 ZMYM2 C>T	13	20625672	20625672	C	T	ZMYM2	c.2392C>T	NM_197968.4	NP_932072.1:p.(Arg798Cys)	NC_000013.10:g.20625672C>T	VUS	1 lab	005fbe2ee0
11:108201239 ATM A>G	11	108201239	108201239	A	G	ATM	c.7515+91A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108201239A>G	(Likely) benign	1 lab	2f300d7cc6
17:41246825 BRCA1 G>A	17	41246825	41246825	G	A	BRCA1	c.723C>T	NM_007294.3	NP_009225.1:p.(Pro241=)	NC_000017.10:g.41246825G>A	(Likely) benign	1 lab	2f860fab7f
11:108214128 ATM G>A	11	108214128	108214128	G	A	ATM	c.8418+30G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108214128G>A	(Likely) benign	1 lab	2f91bae4bd
17:41226319 BRCA1 TTG>T	17	41226319	41226322	TTG	T	BRCA1	c.4675+27_4675+28del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41226321_41226322del	(Likely) benign	1 lab	2fd9e60073
11:108124772 ATM A>AT	11	108124772	108124778	A	AT	ATM	c.2124+12dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108124778dup	(Likely) benign	1 lab	2ffdc6a632
1:16921164 NBPF1 G>A	1	16921164	16921164	G	A	NBPF1	c.-573-8C>T	NM_001405666.3	NP_001392595.1:p.?	NC_000001.10:g.16921164G>A	(Likely) benign	1 lab	00623327f9
17:7577556 TP53 CAG>C	17	7577556	7577558	CAG	C	TP53	c.723_724del	NM_000546.6	NP_000537.3:p.(Cys242HisfsTer21)	NC_000017.10:g.7577557_7577558del	(Likely) pathogenic	1 lab	30330562a3
11:108190563 ATM A>AT	11	108190563	108190569	A	AT	ATM	c.6348-112dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190569dup	(Likely) benign	1 lab	305aa97ff6
11:108170373 ATM T>G	11	108170373	108170373	T	G	ATM	c.5006-68T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108170373T>G	(Likely) benign	1 lab	30a4f341ae
17:33434094 RAD51D G>A	17	33434094	33434094	G	A	RAD51D	c.393C>T	NM_002878.3	NP_002869.3:p.(Asn131=)	NC_000017.10:g.33434094G>A	(Likely) benign	1 lab	30b81b4fb6
3:37067075 MLH1 C>A	3	37067075	37067075	C	A	MLH1	c.1039-53C>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067075C>A	(Likely) benign	1 lab	30ec574c2f
2:48026901 MSH6 AGT>A	2	48026901	48026903	AGT	A	MSH6	c.1780_1781del	NM_000179.3	NP_000170.1:p.(Val594PhefsTer3)	NC_000002.11:g.48026902_48026903del	(Likely) pathogenic	1 lab	3147ddc231
2:73680160 ALMS1 C>T	2	73680160	73680160	C	T	ALMS1	c.6506C>T	NM_001378454.1	NP_001365383.1:p.(Ser2169Leu)	NC_000002.11:g.73680160C>T	(Likely) benign	1 lab	0065aa849a
17:33434088 RAD51D T>C	17	33434088	33434088	T	C	RAD51D	c.399A>G	NM_002878.3	NP_002869.3:p.(Leu133=)	NC_000017.10:g.33434088T>C	(Likely) benign	1 lab	318d3cb373
10:5255063 AKR1C4 C>T	10	5255063	5255063	C	T	AKR1C4	c.787C>T	NM_001818.5	NP_001809.4:p.(Arg263Cys)	NC_000010.10:g.5255063C>T	(Likely) benign	1 lab	006850b06f
15:30381201 GOLGA8J G>C	15	30381201	30381201	G	C	GOLGA8J	c.744G>C	NM_001282472.2	NP_001269401.1:p.(Glu248Asp)	NC_000015.9:g.30381201G>C	VUS	1 lab	0068f17547
13:32950869 BRCA2 C>T	13	32950869	32950869	C	T	BRCA2	c.8695C>T	NM_000059.3	NP_000050.2:p.(Gln2899Ter)	NC_000013.10:g.32950869C>T	(Likely) pathogenic	1 lab	3293634cb2
16:17211545 XYLT1 C>T	16	17211545	17211545	C	T	XYLT1	c.2515G>A	NM_022166.4	NP_071449.1:p.(Val839Ile)	NC_000016.9:g.17211545C>T	(Likely) benign	1 lab	0069735f16
12:132325405 MMP17 C>T	12	132325405	132325405	C	T	MMP17	c.706+4C>T	NM_016155.7	NP_057239.4:p.?	NC_000012.11:g.132325405C>T	VUS	1 lab	006e18f023
2:233346498 ECEL1 C>T	2	233346498	233346498	C	T	ECEL1	c.1858G>A	NM_004826.4	NP_004817.2:p.(Asp620Asn)	NC_000002.11:g.233346498C>T	(Likely) benign	1 lab	006ed8584a
11:108128361 ATM T>A	11	108128361	108128361	T	A	ATM	c.2376+28T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128361T>A	(Likely) benign	1 lab	32cf96eafa
17:41251844 BRCA1 C>CA	17	41251844	41251845	C	CA	BRCA1	c.494dup	NM_007294.3	NP_009225.1:p.(Arg166GlufsTer16)	NC_000017.10:g.41251845dup	(Likely) pathogenic	1 lab	3351299fe1
2:25462006 DNMT3A T>C	2	25462006	25462006	T	C	DNMT3A				NC_000002.11:g.25462006T>C	(Likely) pathogenic	1 lab	143d9757a5
17:41249362 BRCA1 TTA>T	17	41249362	41249364	TTA	T	BRCA1	c.548-58_548-57del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41249363_41249364del	(Likely) benign	1 lab	33544ebf06
3:37061837 MLH1 GCAC>G	3	37061837	37061841	GCAC	G	MLH1	c.923_925del	NM_000249.4	NP_000240.1:p.(His308del)	NC_000003.11:g.37061839_37061841del	(Likely) pathogenic	1 lab	3358bafa4f
2:47643568 MSH2 G>T	2	47643568	47643568	G	T	MSH2	c.1076G>T	NM_000251.2	NP_000242.1:p.(Arg359Ile)	NC_000002.11:g.47643568G>T	(Likely) pathogenic	1 lab	335edeb58c
17:7577070 TP53 G>A	17	7577070	7577070	G	A	TP53	c.868C>T	NM_000546.5	NP_000537.3:p.(Arg290Cys)	NC_000017.10:g.7577070G>A	(Likely) benign	1 lab	338ac18105
11:108204728 ATM A>T	11	108204728	108204728	A	T	ATM	c.8010+33A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108204728A>T	(Likely) benign	1 lab	33b130b450
2:71740461 DYSF G>A	2	71740461	71740461	G	A	DYSF	c.549G>A	NM_001130981.1	NP_001124453.1:p.(Thr183=)	NC_000002.11:g.71740461G>A	VUS	1 lab	9d3fd7bc00
12:57920165 MBD6 G>T	12	57920165	57920165	G	T	MBD6	c.1414G>T	NM_052897.4	NP_443129.3:p.(Val472Leu)	NC_000012.11:g.57920165G>T	VUS	1 lab	006f00c5e0
15:90213442 PLIN1 G>A	15	90213442	90213442	G	A	PLIN1	c.367C>T	NM_002666.5	NP_002657.3:p.(Arg123Cys)	NC_000015.9:g.90213442G>A	VUS	1 lab	006f780731
5:228277 SDHA CCT>C	5	228277	228279	CCT	C	SDHA	c.622-22_622-21del	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228278_228279del	(Likely) benign	1 lab	34405d6c95
13:32915304 BRCA2 AAAG>A	13	32915304	32915311	AAAG	A	BRCA2	c.6817_6819del	NM_000059.4	NP_000050.3:p.(Arg2273del)	NC_000013.10:g.32915309_32915311del	(Likely) pathogenic	1 lab	349c9f174b
11:108198519 ATM C>G	11	108198519	108198519	C	G	ATM	c.7089+34C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198519C>G	VUS	1 lab	349cada0f2
16:88802632 PIEZO1 G>T	16	88802632	88802632	G	T	PIEZO1	c.1481C>A	NM_001142864.4	NP_001136336.2:p.(Thr494Asn)	NC_000016.9:g.88802632G>T	VUS	1 lab	0070028095
1:19184110 TAS1R2 C>T	1	19184110	19184110	C	T	TAS1R2	c.198G>A	NM_152232.6	NP_689418.2:p.(Val66=)	NC_000001.10:g.19184110C>T	VUS	1 lab	00702226b3
11:17794103 KCNC1 T>G	11	17794103	17794103	T	G	KCNC1	c.1462T>G	NM_001112741.2	NP_001106212.1:p.(Cys488Gly)	NC_000011.9:g.17794103T>G	(Likely) benign	1 lab	0070fb0d99
3:124952131 ZNF148 GC>G	3	124952131	124952132	GC	G	ZNF148	c.1438del	NM_021964.3	NP_068799.2:p.(Ala480GlnfsTer10)	NC_000003.11:g.124952132del	VUS	1 lab	0071289773
19:54314477 NLRP12 G>A	19	54314477	54314477	G	A	NLRP12	c.436C>T	NM_144687.4	NP_653288.1:p.(Arg146Cys)	NC_000019.9:g.54314477G>A	(Likely) benign	1 lab	00771cdc76
13:32913701 BRCA2 GATACT>G	13	32913701	32913706	GATACT	G	BRCA2	c.5210_5214del	NM_000059.4	NP_000050.3:p.(Asp1737ValfsTer4)	NC_000013.10:g.32913702_32913706del	(Likely) pathogenic	1 lab	355eaa86af
1:16577347 FBXO42 C>T	1	16577347	16577347	C	T	FBXO42	c.1972G>A	NM_018994.3	NP_061867.1:p.(Gly658Arg)	NC_000001.10:g.16577347C>T	VUS	1 lab	0072ad1ca2
14:65568298 MAX AAG>A	14	65568298	65568305	AAG	A	MAX	c.37-10_37-9del	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65568304_65568305del	(Likely) benign	1 lab	35696a1fc4
11:108186736 ATM A>G	11	108186736	108186736	A	G	ATM	c.6096-2A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186736A>G	(Likely) pathogenic	1 lab	357fa65415
2:48033271 MSH6 CATTTTTGTTTTAATTCCT>C	2	48033271	48033289	CATTTTTGTTTTAATTCCT	C	MSH6	c.3647-71_3647-54del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033272_48033289del	(Likely) benign	1 lab	358c6a8899
13:32954033 BRCA2 C>T	13	32954033	32954033	C	T	BRCA2	c.9100C>T	NM_000059.3	NP_000050.2:p.(Gln3034Ter)	NC_000013.10:g.32954033C>T	(Likely) pathogenic	1 lab	358fd99ea0
11:108141954 ATM ACT>A	11	108141954	108141956	ACT	A	ATM	c.2922-23_2922-22del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141955_108141956del	(Likely) benign	1 lab	35912d1283
19:30414616 URI1 CCTTCAAG>C	19	30414616	30414623	CCTTCAAG	C	URI1	c.19_25del	NM_001252641.1	NP_001239570.1:p.(Leu7GlufsTer28)	NC_000019.9:g.30414617_30414623del	VUS	1 lab	b2b585d9b9
13:32912351 BRCA2 AATAAT>A	13	32912351	32912357	AATAAT	A	BRCA2	c.3861_3865del	NM_000059.4	NP_000050.3:p.(Asn1287LysfsTer9)	NC_000013.10:g.32912353_32912357del	(Likely) pathogenic	1 lab	35b827afbc
1:152187195 HRNR G>A	1	152187195	152187195	G	A	HRNR	c.6910C>T	NM_001009931.3	NP_001009931.1:p.(Arg2304Ter)	NC_000001.10:g.152187195G>A	(Likely) benign	1 lab	0072dabf83
11:108129635 ATM G>C	11	108129635	108129635	G	C	ATM	c.2377-78G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129635G>C	(Likely) benign	1 lab	361beacf85
22:42605724 TCF20 T>C	22	42605724	42605724	T	C	TCF20	c.5588A>G	NM_001378418.1	NP_001365347.1:p.(Asn1863Ser)	NC_000022.10:g.42605724T>C	(Likely) benign	1 lab	0072db18c7
12:133249166 POLE C>T	12	133249166	133249166	C	T	POLE	c.1686+47G>A	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133249166C>T	(Likely) benign	1 lab	36a57d8430
11:108195975 ATM AGT>A	11	108195975	108195977	AGT	A	ATM	c.6573-61_6573-60del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195976_108195977del	(Likely) benign	1 lab	36dbe9c9e7
17:66520112 PRKAR1A G>A	17	66520112	66520112	G	A	PRKAR1A	c.441-45G>A	NM_212471.2	NP_997636.1:p.?	NC_000017.10:g.66520112G>A	(Likely) benign	1 lab	37c0c1d10c
13:32912445 BRCA2 AAAATG>A	13	32912445	32912452	AAAATG	A	BRCA2	c.3956_3960del	NM_000059.4	NP_000050.3:p.(Asn1319ArgfsTer2)	NC_000013.10:g.32912448_32912452del	(Likely) pathogenic	1 lab	38000907d6
12:2794928 CACNA1C G>A	12	2794928	2794928	G	A	CACNA1C	c.5600G>A	NM_000719.7	NP_000710.5:p.(Arg1867Gln)	NC_000012.11:g.2794928G>A	VUS	1 lab	0078ac91a8
17:41246389 BRCA1 AAAACC>A	17	41246389	41246395	AAAACC	A	BRCA1	c.1154_1158del	NM_007294.4	NP_009225.1:p.(Trp385PhefsTer4)	NC_000017.10:g.41246391_41246395del	(Likely) pathogenic	1 lab	3899dfbe5d
13:32911943 BRCA2 ATC>A	13	32911943	32911946	ATC	A	BRCA2	c.3453_3454del	NM_000059.4	NP_000050.3:p.(Leu1152LysfsTer5)	NC_000013.10:g.32911945_32911946del	(Likely) pathogenic	1 lab	38a0ee85d7
11:17191148 PIK3C2A T>G	11	17191148	17191148	T	G	PIK3C2A	c.141A>C	NM_002645.4	NP_002636.2:p.(Gln47His)	NC_000011.9:g.17191148T>G	VUS	1 lab	0078fe64a4
11:108098461 ATM A>T	11	108098461	108098461	A	T	ATM	c.72+38A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098461A>T	(Likely) benign	1 lab	38f40d3be4
13:32972304 BRCA2 TTCTC>T	13	32972304	32972308	TTCTC	T	BRCA2	c.9655_9658del	NM_000059.4	NP_000050.3:p.(Ser3219LeufsTer29)	NC_000013.10:g.32972305_32972308del	VUS	1 lab	38fda4e6f6
17:41244864 BRCA1 TGTTTC>T	17	41244864	41244869	TGTTTC	T	BRCA1	c.2679_2683del	NM_007294.4	NP_009225.1:p.(Gln895SerfsTer6)	NC_000017.10:g.41244865_41244869del	(Likely) pathogenic	1 lab	390a5daf7e
2:215645464 BARD1 C>A	2	215645464	215645464	C	A	BARD1	c.1134G>T	NM_000465.4	NP_000456.2:p.(Arg378Ser)	NC_000002.11:g.215645464C>A	(Likely) benign	1 lab	3939fb9838
4:106158040 TET2 A>G	4	106158040	106158040	A	G	TET2	c.2941A>G	NM_001127208.3	NP_001120680.1:p.(Ile981Val)	NC_000004.11:g.106158040A>G	(Likely) benign	1 lab	007916a5fa
11:108100105 ATM G>GT	11	108100105	108100119	G	GT	ATM	c.331+69dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108100119dup	(Likely) benign	1 lab	397e8f8ff9
17:33446184 RAD51D G>A	17	33446184	33446184	G	A	RAD51D	c.90C>T	NM_002878.3	NP_002869.3:p.(Asp30=)	NC_000017.10:g.33446184G>A	(Likely) benign	1 lab	39a6852c16
2:215609859 BARD1 T>A	2	215609859	215609859	T	A	BARD1	c.1835A>T	NM_000465.4	NP_000456.2:p.(Asp612Val)	NC_000002.11:g.215609859T>A	VUS	1 lab	39c5069660
X:71813031 PHKA1 G>A	X	71813031	71813031	G	A	PHKA1	c.3166C>T	NM_002637.4	NP_002628.2:p.(Arg1056Cys)	NC_000023.10:g.71813031G>A	VUS	1 lab	007ade79e3
3:157289801 SLC66A1LP TACTA>T	3	157289801	157289805	TACTA	T	SLC66A1LP	n.498_501del	NR_166162.1		NC_000003.11:g.157289802_157289805del	VUS	1 lab	b5ef95752a
2:162762161 SLC4A10 G>A	2	162762161	162762161	G	A	SLC4A10	c.1761G>A	NM_001178015.2	NP_001171486.1:p.(Gly587=)	NC_000002.11:g.162762161G>A	VUS	1 lab	007b88371e
10:73562787 CDH23 G>C	10	73562787	73562787	G	C	CDH23	c.7615G>C	NM_022124.6	NP_071407.4:p.(Gly2539Arg)	NC_000010.10:g.73562787G>C	VUS	1 lab	007c6aafaf
17:59793232 BRIP1 T>C	17	59793232	59793232	T	C	BRIP1	c.2492+80A>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59793232T>C	(Likely) benign	1 lab	3a89c0aa2d
11:108114632 ATM T>G	11	108114632	108114632	T	G	ATM	c.497-48T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108114632T>G	(Likely) benign	1 lab	3a9100a70d
2:47705451 MSH2 G>A	2	47705451	47705451	G	A	MSH2	c.2251G>A	NM_000251.2	NP_000242.1:p.(Gly751Arg)	NC_000002.11:g.47705451G>A	(Likely) pathogenic	1 lab	3ad58b5efe
2:47657096 MSH2 G>GT	2	47657096	47657103	G	GT	MSH2	c.1276+23dup	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47657103dup	(Likely) benign	1 lab	3ae58b766f
15:48591329 SLC12A1 A>T	15	48591329	48591329	A	T	SLC12A1	c.2961-8A>T	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48591329A>T	VUS	1 lab	007e442b90
18:32585466 MAPRE2 C>T	18	32585466	32585466	C	T	MAPRE2	c.-59C>T	NM_001143826.2	NP_001137298.1:p.?	NC_000018.9:g.32585466C>T	VUS	1 lab	08bc5552b9
17:59876352 BRIP1 C>T	17	59876352	59876352	C	T	BRIP1	c.1340+109G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59876352C>T	(Likely) benign	1 lab	3b10019262
9:136131532 ABO AG>A	9	136131532	136131533	AG	A	ABO	c.585del	NM_020469.2	NP_065202.2:p.(Cys196AlafsTer30)	NC_000009.11:g.136131533del	VUS	1 lab	ba6e832830
11:108155005 ATM TGA>T	11	108155005	108155008	TGA	T	ATM	c.3800_3801del	NM_000051.4	NP_000042.3:p.(Glu1267GlyfsTer6)	NC_000011.9:g.108155007_108155008del	(Likely) pathogenic	1 lab	3b52e0caea
22:29085031 CHEK2 T>C	22	29085031	29085031	T	C	CHEK2	c.1542+92A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085031T>C	(Likely) benign	1 lab	3b940b5f7a
17:59793563 BRIP1 G>A	17	59793563	59793563	G	A	BRIP1	c.2380-139C>T	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59793563G>A	(Likely) benign	1 lab	3bd516a98e
5:14387617 TRIO C>T	5	14387617	14387617	C	T	TRIO	c.3641C>T	NM_007118.4	NP_009049.2:p.(Ala1214Val)	NC_000005.9:g.14387617C>T	VUS	1 lab	007ef7c003
2:131099606 VMA22 C>G	2	131099606	131099606	C	G	VMA22	c.93G>C	NM_032357.4	NP_115733.2:p.(Leu31Phe)	NC_000002.11:g.131099606C>G	VUS	1 lab	007fc72897
4:55597986 KIT T>A	4	55597986	55597986	T	A	KIT	c.2234-51T>A	NM_000222.2	NP_000213.1:p.?	NC_000004.11:g.55597986T>A	(Likely) benign	1 lab	3c2abfdc78
13:32912210 BRCA2 C>T	13	32912210	32912210	C	T	BRCA2	c.3718C>T	NM_000059.3	NP_000050.2:p.(Leu1240=)	NC_000013.10:g.32912210C>T	(Likely) benign	1 lab	3c7da5236e
11:124761576 ROBO4 T>G	11	124761576	124761576	T	G	ROBO4	c.1670A>C	NM_019055.6	NP_061928.4:p.(Asp557Ala)	NC_000011.9:g.124761576T>G	VUS	1 lab	0082144ce0
17:41228572 BRCA1 AA>C	17	41228572	41228573	AA	C	BRCA1	c.4416_4417delinsG	NM_007294.3	NP_009225.1:p.(Ser1473LeufsTer32)	NC_000017.10:g.41228572_41228573delinsC	(Likely) pathogenic	1 lab	3cbb088b80
13:32907087 BRCA2 C>G	13	32907087	32907087	C	G	BRCA2	c.1472C>G	NM_000059.3	NP_000050.2:p.(Thr491Ser)	NC_000013.10:g.32907087C>G	(Likely) benign	1 lab	3cc198d06b
2:47702052 MSH2 T>TAGG	2	47702052	47702056	T	TAGG	MSH2	c.1760-110_1760-108dup	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702054_47702056dup	(Likely) benign	1 lab	3cceec506c
11:108117790 ATM C>G	11	108117790	108117790	C	G	ATM	c.1001C>G	NM_000051.3	NP_000042.3:p.(Ser334Ter)	NC_000011.9:g.108117790C>G	(Likely) pathogenic	1 lab	3cd7298a98
11:108206550 ATM T>C	11	108206550	108206550	T	C	ATM	c.8152-22T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108206550T>C	(Likely) benign	1 lab	3ce80c393d
4:151789371 LRBA T>C	4	151789371	151789371	T	C	LRBA	c.2536A>G	NM_001364905.1	NP_001351834.1:p.(Met846Val)	NC_000004.11:g.151789371T>C	VUS	1 lab	008347a129
17:7121041 ACADVL G>A	17	7121041	7121041	G	A	ACADVL	c.35G>A	NM_001270447.1	NP_001257376.1:p.(Arg12Gln)	NC_000017.10:g.7121041G>A	VUS	1 lab	09c43e9c8e
X:19369501 PDHA1 C>T	X	19369501	19369501	C	T	PDHA1	c.394C>T	NM_000284.4	NP_000275.1:p.(Arg132Ter)	NC_000023.10:g.19369501C>T	(Likely) pathogenic	1 lab	0083c17687
3:150883729 MED12L A>G	3	150883729	150883729	A	G	MED12L	c.1454A>G	NM_001393769.1	NP_001380698.1:p.(His485Arg)	NC_000003.11:g.150883729A>G	(Likely) benign	1 lab	0087df98df
17:33430661 RAD51D C>G	17	33430661	33430661	C	G	RAD51D	c.577-98G>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430661C>G	(Likely) benign	1 lab	3db87d803b
17:41244390 BRCA1 T>TC	17	41244390	41244391	T	TC	BRCA1	c.3157dup	NM_007294.4	NP_009225.1:p.(Glu1053GlyfsTer7)	NC_000017.10:g.41244391dup	(Likely) pathogenic	1 lab	3dc5649248
X:153296105 MECP2 CAGGTGG>C	X	153296105	153296117	CAGGTGG	C	MECP2	c.1204_1209del	NM_001110792.2	NP_001104262.1:p.(Pro402_Pro403del)	NC_000023.10:g.153296112_153296117del	(Likely) benign	1 lab	0088469e04
15:89386833 ACAN G>A	15	89386833	89386833	G	A	ACAN	c.1005G>A	NM_001369268.1	NP_001356197.1:p.(Thr335=)	NC_000015.9:g.89386833G>A	(Likely) benign	1 lab	008a4711f5
11:108117694 ATM C>T	11	108117694	108117694	C	T	ATM	c.905C>T	NM_000051.4	NP_000042.3:p.(Ala302Val)	NC_000011.9:g.108117694C>T	VUS	1 lab	3e7a2685fe
1:11918533 NPPB T>A	1	11918533	11918533	T	A	NPPB	c.133-7A>T	NM_002521.3	NP_002512.1:p.?	NC_000001.10:g.11918533T>A	(Likely) benign	1 lab	008a76e1c5
16:79633061 MAF G>A	16	79633061	79633061	G	A	MAF	c.739C>T	NM_005360.5	NP_005351.2:p.(His247Tyr)	NC_000016.9:g.79633061G>A	(Likely) benign	1 lab	008bd3f087
22:29121070 CHEK2 GATCT>G	22	29121070	29121074	GATCT	G	CHEK2	c.483_486del	NM_007194.4	NP_009125.1:p.(Glu161AspfsTer9)	NC_000022.10:g.29121071_29121074del	(Likely) pathogenic	1 lab	3ee823019a
4:8848009 HMX1 CCT>C	4	8848009	8848014	CCT	C	HMX1	c.434_435del	NM_001306142.1	NP_001293071.1:p.(Glu145GlyfsTer7)	NC_000004.11:g.8848013_8848014del	(Likely) pathogenic	1 lab	c2eaf6b440
17:7579472 TP53 G>T	17	7579472	7579472	G	T	TP53	c.215C>A	NM_000546.6	NP_000537.3:p.(Pro72His)	NC_000017.10:g.7579472G>T	(Likely) benign	1 lab	3f26f9e897
4:103806607 CISD2 G>A	4	103806607	103806607	G	A	CISD2	c.318+20G>A	NM_001008388.5	NP_001008389.1:p.?	NC_000004.11:g.103806607G>A	(Likely) benign	1 lab	008c12db52
11:108198532 ATM T>C	11	108198532	108198532	T	C	ATM	c.7089+47T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198532T>C	(Likely) benign	1 lab	3f3c060fc4
16:23649204 PALB2 GAGACA>G	16	23649204	23649210	GAGACA	G	PALB2	c.173_177del	NM_024675.4	NP_078951.2:p.(Leu58SerfsTer14)	NC_000016.9:g.23649206_23649210del	(Likely) pathogenic	1 lab	3f5ff88ff0
16:68855852 CDH1 G>C	16	68855852	68855852	G	C	CDH1	c.1712-52G>C	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68855852G>C	(Likely) benign	1 lab	3f9c8efff0
11:108202066 ATM C>CT	11	108202066	108202068	C	CT	ATM	c.7516-103dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202068dup	(Likely) benign	1 lab	3fb00f2e82
4:6293674 WFS1 A>G	4	6293674	6293674	A	G	WFS1	c.662A>G	NM_006005.3	NP_005996.2:p.(Lys221Arg)	NC_000004.11:g.6293674A>G	(Likely) benign	1 lab	008c2425a4
X:154774867 TMLHE G>A	X	154774867	154774867	G	A	TMLHE	c.71C>T	NM_018196.4	NP_060666.1:p.(Pro24Leu)	NC_000023.10:g.154774867G>A	(Likely) benign	1 lab	008c66d21a
6:311939 DUSP22 G>A	6	311939	311939	G	A	DUSP22	c.115G>A	NM_001286555.3	NP_001273484.1:p.(Asp39Asn)	NC_000006.11:g.311939G>A	VUS	1 lab	064c3a2182
11:108192019 ATM T>G	11	108192019	108192019	T	G	ATM	c.6453-9T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108192019T>G	(Likely) benign	1 lab	40450bd742
19:39907506 PLEKHG2 C>T	19	39907506	39907506	C	T	PLEKHG2	c.610C>T	NM_022835.3	NP_073746.2:p.(Arg204Trp)	NC_000019.9:g.39907506C>T	(Likely) pathogenic	1 lab	008d10755b
11:108137950 ATM ATG>A	11	108137950	108137952	ATG	A	ATM	c.2520_2521del	NM_000051.4	NP_000042.3:p.(Asp840GlufsTer3)	NC_000011.9:g.108137951_108137952del	(Likely) pathogenic	1 lab	4080c7b0db
13:108861177 LIG4 G>A	13	108861177	108861177	G	A	LIG4	c.2440C>T	NM_206937.2	NP_996820.1:p.(Arg814Ter)	NC_000013.10:g.108861177G>A	(Likely) pathogenic	1 lab	008d3d89c6
3:37048537 MLH1 C>T	3	37048537	37048537	C	T	MLH1	c.436C>T	NM_000249.3	NP_000240.1:p.(Gln146Ter)	NC_000003.11:g.37048537C>T	(Likely) pathogenic	1 lab	409a92b65d
7:4830354 AP5Z1 C>T	7	4830354	4830354	C	T	AP5Z1	c.1989C>T	NM_014855.3	NP_055670.1:p.(Thr663=)	NC_000007.13:g.4830354C>T	(Likely) benign	1 lab	008dc40f57
15:89392775 ACAN C>T	15	89392775	89392775	C	T	ACAN	c.1839C>T	NM_001369268.1	NP_001356197.1:p.(Ala613=)	NC_000015.9:g.89392775C>T	(Likely) benign	1 lab	00964a422b
1:197072984 ASPM CAAG>C	1	197072984	197072990	CAAG	C	ASPM	c.5394_5396del	NM_018136.5	NP_060606.3:p.(Phe1798del)	NC_000001.10:g.197072988_197072990del	VUS	1 lab	008ead6dea
X:54815065 ITIH6 G>C	X	54815065	54815065	G	C	ITIH6	c.634C>G	NM_198510.3	NP_940912.1:p.(Pro212Ala)	NC_000023.10:g.54815065G>C	(Likely) benign	1 lab	008f71839d
13:32905122 BRCA2 GTGACA>G	13	32905122	32905127	GTGACA	G	BRCA2	c.749_753del	NM_000059.4	NP_000050.3:p.(Val250GlyfsTer3)	NC_000013.10:g.32905123_32905127del	(Likely) pathogenic	1 lab	411e7a6215
1:197168772 ZBTB41 C>T	1	197168772	197168772	C	T	ZBTB41	c.832G>A	NM_194314.3	NP_919290.2:p.(Asp278Asn)	NC_000001.10:g.197168772C>T	VUS	1 lab	00912e23f2
17:41267894 BRCA1 T>C	17	41267894	41267894	T	C	BRCA1	c.81-98A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267894T>C	(Likely) benign	1 lab	412f29e9d0
11:108150405 ATM A>G	11	108150405	108150405	A	G	ATM	c.3402+70A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108150405A>G	(Likely) benign	1 lab	4132cd3517
17:41244086 BRCA1 TAAC>T	17	41244086	41244090	TAAC	T	BRCA1	c.3459_3461del	NM_007294.4	NP_009225.1:p.(Leu1154del)	NC_000017.10:g.41244088_41244090del	(Likely) pathogenic	1 lab	41461c9173
17:41243927 BRCA1 C>A	17	41243927	41243927	C	A	BRCA1	c.3621G>T	NM_007294.4	NP_009225.1:p.(Lys1207Asn)	NC_000017.10:g.41243927C>A	(Likely) benign	1 lab	418cb84ff2
14:55034829 SAMD4A C>T	14	55034829	55034829	C	T	SAMD4A	c.195C>T	NM_015589.6	NP_056404.4:p.(Pro65=)	NC_000014.8:g.55034829C>T	(Likely) benign	1 lab	00928c556d
11:108199860 ATM T>C	11	108199860	108199860	T	C	ATM	c.7202T>C	NM_000051.3	NP_000042.3:p.(Ile2401Thr)	NC_000011.9:g.108199860T>C	VUS	1 lab	41ae855269
17:56811480 RAD51C C>T	17	56811480	56811480	C	T	RAD51C	c.1028C>T	NM_058216.1	NP_478123.1:p.(Pro343Leu)	NC_000017.10:g.56811480C>T	(Likely) benign	1 lab	41b7ecabd3
17:41231413 BRCA1 G>A	17	41231413	41231413	G	A	BRCA1	c.4358-2782C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41231413G>A	(Likely) benign	1 lab	41d385abe8
6:70500333 LMBRD1 C>T	6	70500333	70500333	C	T	LMBRD1	c.101G>A	NM_018368.4	NP_060838.3:p.(Arg34His)	NC_000006.11:g.70500333C>T	VUS	1 lab	0093ca814c
17:41244060 BRCA1 GTA>G	17	41244060	41244063	GTA	G	BRCA1	c.3486_3487del	NM_007294.4	NP_009225.1:p.(Thr1163Ter)	NC_000017.10:g.41244062_41244063del	(Likely) pathogenic	1 lab	4205c83904
10:1126376 MISSING C>T	10	1126376	1126376	C	T	MISSING				NC_000010.10:g.1126376C>T	(Likely) pathogenic	1 lab	6b7385203a
15:51868380 DMXL2 TAAAAAAAAA>T	15	51868380	51868400	TAAAAAAAAA	T	DMXL2	c.88-11_88-3del	NM_001378457.1	NP_001365386.1:p.?	NC_000015.9:g.51868392_51868400del	VUS	1 lab	00940afde1
3:139093355 COPB2 T>A	3	139093355	139093355	T	A	COPB2	c.727A>T	NM_004766.3	NP_004757.1:p.(Ile243Phe)	NC_000003.11:g.139093355T>A	VUS	1 lab	00943f07b0
2:48033338 MSH6 A>AACAGGAAGAGGTACTGCAACATTTG	2	48033338	48033364	A	AACAGGAAGAGGTACTGCAACATTTG	MSH6	c.3647-3_3668dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033340_48033364dup	(Likely) pathogenic	1 lab	43104413cf
19:49931882 GFY A>AAC	19	49931882	49931883	A	AAC	GFY	c.1364_1365insAC	NM_001195256.2	NP_001182185.1:p.(His455GlnfsTer?)	NC_000019.9:g.49931882_49931883insAC	(Likely) benign	1 lab	009449f158
11:108114883 ATM T>C	11	108114883	108114883	T	C	ATM	c.662+38T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108114883T>C	(Likely) benign	1 lab	432784acd5
17:59878416 BRIP1 G>C	17	59878416	59878416	G	C	BRIP1	c.1140+198C>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59878416G>C	(Likely) benign	1 lab	43731a1a6b
17:41245345 BRCA1 GTTTCTC>G	17	41245345	41245353	GTTTCTC	G	BRCA1	c.2197_2202del	NM_007294.4	NP_009225.1:p.(Glu733_Lys734del)	NC_000017.10:g.41245348_41245353del	(Likely) pathogenic	1 lab	437ef81a2b
16:1265063 CACNA1H G>C	16	1265063	1265063	G	C	CACNA1H	c.5021G>C	NM_021098.3	NP_066921.2:p.(Arg1674Pro)	NC_000016.9:g.1265063G>C	VUS	1 lab	0094b0bc04
18:29598847 RNF125 C>T	18	29598847	29598847	C	T	RNF125	c.21C>T	NM_017831.4	NP_060301.2:p.(Thr7=)	NC_000018.9:g.29598847C>T	(Likely) benign	1 lab	009590e514
5:168727578 SLIT3 C>G	5	168727578	168727578	C	G	SLIT3	c.136G>C	NM_003062.4	NP_003053.2:p.(Asp46His)	NC_000005.9:g.168727578C>G	VUS	1 lab	0095fc142d
13:28494440 PDX1 C>A	13	28494440	28494440	C	A	PDX1	c.165C>A	NM_000209.4	NP_000200.1:p.(Gly55=)	NC_000013.10:g.28494440C>A	(Likely) benign	1 lab	00963d5a5f
13:32972230 BRCA2 AGTTAC>A	13	32972230	32972235	AGTTAC	A	BRCA2	c.9649-68_9649-64del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972231_32972235del	(Likely) benign	1 lab	43f1c1494f
17:78178908 CARD14 G>A	17	78178908	78178908	G	A	CARD14	c.2473G>A	NM_024110.4	NP_077015.2:p.(Ala825Thr)	NC_000017.10:g.78178908G>A	(Likely) benign	1 lab	3942d00c0d
22:29107858 CHEK2 G>A	22	29107858	29107858	G	A	CHEK2	c.792+39C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29107858G>A	(Likely) benign	1 lab	4460097d8d
2:47693706 MSH2 G>T	2	47693706	47693706	G	T	MSH2	c.1511-91G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47693706G>T	(Likely) benign	1 lab	4471a1c674
13:32912701 BRCA2 TTC>T	13	32912701	32912703	TTC	T	BRCA2	c.4210_4211del	NM_000059.4	NP_000050.3:p.(Ser1404LysfsTer2)	NC_000013.10:g.32912702_32912703del	(Likely) pathogenic	1 lab	448c39c7dd
11:108123390 ATM G>A	11	108123390	108123390	G	A	ATM	c.1803-154G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123390G>A	(Likely) benign	1 lab	44a0ca7601
5:138362677 SIL1 C>A	5	138362677	138362677	C	A	SIL1	c.458G>T	NM_022464.5	NP_071909.1:p.(Arg153Met)	NC_000005.9:g.138362677C>A	VUS	1 lab	0098cb14db
3:183860397 EIF2B5 C>A	3	183860397	183860397	C	A	EIF2B5	c.1546+6C>A	NM_003907.3	NP_003898.2:p.?	NC_000003.11:g.183860397C>A	(Likely) benign	1 lab	0098e3fe64
4:56283956 TMEM165 ATTAT>A	4	56283956	56283966	ATTAT	A	TMEM165	c.610-7_610-4del	NM_018475.5	NP_060945.2:p.?	NC_000004.11:g.56283963_56283966del	(Likely) benign	1 lab	009fe9c758
17:41251776 BRCA1 AAC>A	17	41251776	41251778	AAC	A	BRCA1	c.547+14_547+15del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251777_41251778del	(Likely) benign	1 lab	44e3fcb6d6
16:71212953 HYDIN T>C	16	71212953	71212953	T	C	HYDIN	c.262-3A>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71212953T>C	(Likely) pathogenic	1 lab	00a18730c2
20:62103669 KCNQ2 G>A	20	62103669	62103669	G	A	KCNQ2	c.148C>T	NM_172107.4	NP_742105.1:p.(Arg50Cys)	NC_000020.10:g.62103669G>A	VUS	1 lab	00a4e9c1ea
12:58144688 CDK4 T>C	12	58144688	58144688	T	C	CDK4				NC_000012.11:g.58144688T>C	(Likely) benign	1 lab	457a8c5bf6
17:33430474 RAD51D T>C	17	33430474	33430474	T	C	RAD51D	c.666A>G	NM_002878.3	NP_002869.3:p.(Glu222=)	NC_000017.10:g.33430474T>C	(Likely) benign	1 lab	45c7e1ea9a
X:54275563 WNK3 G>A	X	54275563	54275563	G	A	WNK3	c.3218C>T	NM_020922.5	NP_065973.2:p.(Thr1073Ile)	NC_000023.10:g.54275563G>A	(Likely) benign	1 lab	00a56b7486
16:23641206 PALB2 T>C	16	23641206	23641206	T	C	PALB2	c.2269A>G	NM_024675.3	NP_078951.2:p.(Thr757Ala)	NC_000016.9:g.23641206T>C	(Likely) benign	1 lab	45f3de3dcd
17:59926597 BRIP1 G>T	17	59926597	59926597	G	T	BRIP1	c.400C>A	NM_032043.2	NP_114432.2:p.(Leu134Met)	NC_000017.10:g.59926597G>T	VUS	1 lab	4628b35aa1
15:42977665 STARD9 T>G	15	42977665	42977665	T	G	STARD9	c.3889T>G	NM_020759.3	NP_065810.2:p.(Cys1297Gly)	NC_000015.9:g.42977665T>G	(Likely) benign	1 lab	00a9de1394
13:32899161 BRCA2 A>G	13	32899161	32899161	A	G	BRCA2	c.317-52A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899161A>G	(Likely) benign	1 lab	4684f2732e
2:223084995 PAX3 GA>G	2	223084995	223084997	GA	G	PAX3	c.1036del	NM_181458.4	NP_852123.1:p.(Ser346ProfsTer35)	NC_000002.11:g.223084997del	(Likely) pathogenic	1 lab	00aacec03d
11:17428695 ABCC8 C>T	11	17428695	17428695	C	T	ABCC8	c.2921-19G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17428695C>T	(Likely) benign	1 lab	00ab7f0d0c
11:108129599 ATM C>G	11	108129599	108129599	C	G	ATM	c.2377-114C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129599C>G	(Likely) benign	1 lab	46d56e17a5
2:215661724 BARD1 CAT>C	2	215661724	215661726	CAT	C	BARD1	c.215+59_215+60del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661725_215661726del	(Likely) benign	1 lab	46d5f240f8
2:215661883 BARD1 T>G	2	215661883	215661883	T	G	BARD1	c.159-42A>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661883T>G	(Likely) benign	1 lab	470f12f4d9
19:17943378 JAK3 G>A	19	17943378	17943378	G	A	JAK3	c.2630C>T	NM_000215.4	NP_000206.2:p.(Ala877Val)	NC_000019.9:g.17943378G>A	VUS	1 lab	00ae83ba27
2:238280544 COL6A3 G>A	2	238280544	238280544	G	A	COL6A3	c.4116C>T	NM_004369.4	NP_004360.2:p.(Asn1372=)	NC_000002.11:g.238280544G>A	(Likely) benign	1 lab	00b03216bb
17:41249386 BRCA1 A>G	17	41249386	41249386	A	G	BRCA1	c.548-80T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249386A>G	(Likely) benign	1 lab	4748cf9851
2:48027657 MSH6 T>TGAAGAAACTACATACAGCAA	2	48027657	48027683	T	TGAAGAAACTACATACAGCAA	MSH6	c.2542_2561dup	NM_000179.2	NP_000170.1:p.(Ile855LeufsTer20)	NC_000002.11:g.48027664_48027683dup	(Likely) pathogenic	1 lab	475f295b25
3:12421252 PPARG G>A	3	12421252	12421252	G	A	PPARG	c.42G>A	NM_138711.6	NP_619725.3:p.(Gly14=)	NC_000003.11:g.12421252G>A	(Likely) benign	1 lab	00b2f9dcc3
12:26232004 RASSF8 T>G	12	26232004	26232004	T	G	RASSF8	c.1177T>G	NM_007211.4	NP_009142.2:p.(Ter393GluextTer13)	NC_000012.11:g.26232004T>G	VUS	1 lab	0a3953164c
2:215593555 BARD1 C>T	2	215593555	215593555	C	T	BARD1	c.2179G>A	NM_000465.4	NP_000456.2:p.(Asp727Asn)	NC_000002.11:g.215593555C>T	(Likely) benign	1 lab	47ce7e2588
16:11145497 CLEC16A G>A	16	11145497	11145497	G	A	CLEC16A	c.1994G>A	NM_015226.3	NP_056041.1:p.(Arg665Gln)	NC_000016.9:g.11145497G>A	VUS	1 lab	00b7406aa7
3:37061925 MLH1 T>TC	3	37061925	37061927	T	TC	MLH1	c.1011dup	NM_000249.3	NP_000240.1:p.(Asn338GlnfsTer24)	NC_000003.11:g.37061927dup	(Likely) pathogenic	1 lab	47e9eea79a
10:89692847 PTEN T>A	10	89692847	89692847	T	A	PTEN	c.331T>A	NM_000314.8	NP_000305.3:p.(Trp111Arg)	NC_000010.10:g.89692847T>A	(Likely) pathogenic	1 lab	47fb45e14e
2:47613699 EPCAM T>C	2	47613699	47613699	T	C	EPCAM	c.904-12T>C	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613699T>C	(Likely) benign	1 lab	47fbe0fb63
17:59876600 BRIP1 A>G	17	59876600	59876600	A	G	BRIP1	c.1201T>C	NM_032043.2	NP_114432.2:p.(Cys401Arg)	NC_000017.10:g.59876600A>G	VUS	1 lab	48337348ff
11:108115763 ATM A>T	11	108115763	108115763	A	T	ATM	c.901+10A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115763A>T	VUS	1 lab	484ee6cefa
20:61448958 COL9A3 C>T	20	61448958	61448958	C	T	COL9A3	c.118C>T	NM_001853.4	NP_001844.3:p.(Pro40Ser)	NC_000020.10:g.61448958C>T	VUS	1 lab	00b98b8d7f
17:41228617 BRCA1 G>A	17	41228617	41228617	G	A	BRCA1	c.4372C>T	NM_007294.3	NP_009225.1:p.(Gln1458Ter)	NC_000017.10:g.41228617G>A	(Likely) pathogenic	1 lab	4878b7bda8
17:41245277 BRCA1 AAC>A	17	41245277	41245279	AAC	A	BRCA1	c.2269_2270del	NM_007294.4	NP_009225.1:p.(Val757PhefsTer4)	NC_000017.10:g.41245278_41245279del	(Likely) pathogenic	1 lab	48808942e0
20:6088181 FERMT1 T>G	20	6088181	6088181	T	G	FERMT1	c.847A>C	NM_017671.5	NP_060141.3:p.(Lys283Gln)	NC_000020.10:g.6088181T>G	VUS	1 lab	00bcba3556
17:4607469 PELP1 CTGGGGAGGGGGCG>C	17	4607469	4607494	CTGGGGAGGGGGCG	C	PELP1	c.-599_-587del	NM_001278241.1	NP_001265170.1:p.?	NC_000017.10:g.4607482_4607494del	VUS	1 lab	fe4de3b4df
13:32911234 BRCA2 G>C	13	32911234	32911234	G	C	BRCA2	c.2742G>C	NM_000059.3	NP_000050.2:p.(Leu914Phe)	NC_000013.10:g.32911234G>C	(Likely) benign	1 lab	48dbea3350
7:44323819 CAMK2B G>GC	7	44323819	44323825	G	GC	CAMK2B	c.70dup	NM_001220.5	NP_001211.3:p.(Ala24GlyfsTer16)	NC_000007.13:g.44323825dup	(Likely) pathogenic	1 lab	37af4ed7e4
11:108164227 ATM CTA>C	11	108164227	108164230	CTA	C	ATM	c.4776+25_4776+26del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108164229_108164230del	(Likely) benign	1 lab	49277adce5
17:33446291 RAD51D G>C	17	33446291	33446291	G	C	RAD51D	c.83-100C>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446291G>C	(Likely) benign	1 lab	49e461ba4a
1:90398839 LRRC8D G>A	1	90398839	90398839	G	A	LRRC8D	c.212G>A	NM_001134479.2	NP_001127951.1:p.(Gly71Glu)	NC_000001.10:g.90398839G>A	(Likely) benign	1 lab	00c0843d3a
11:108123393 ATM A>C	11	108123393	108123393	A	C	ATM	c.1803-151A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123393A>C	(Likely) benign	1 lab	4a27f8d714
22:26304379 MYO18B C>T	22	26304379	26304379	C	T	MYO18B	c.5239C>T	NM_032608.7	NP_115997.5:p.(Arg1747Cys)	NC_000022.10:g.26304379C>T	VUS	1 lab	00c3292552
11:823751 PNPLA2 C>G	11	823751	823751	C	G	PNPLA2	c.815C>G	NM_020376.4	NP_065109.1:p.(Pro272Arg)	NC_000011.9:g.823751C>G	VUS	1 lab	00c45dd585
15:90188282 KIF7 C>A	15	90188282	90188282	C	A	KIF7	c.2153G>T	NM_198525.3	NP_940927.2:p.(Arg718Leu)	NC_000015.9:g.90188282C>A	VUS	1 lab	00c48952e7
13:32915412 BRCA2 ATTAAG>A	13	32915412	32915417	ATTAAG	A	BRCA2	c.6841+80_6841+84del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32915413_32915417del	VUS	1 lab	4abe6cfea8
2:47708003 MSH2 AAAG>A	2	47708003	47708007	AAAG	A	MSH2	c.2629_2631del	NM_000251.3	NP_000242.1:p.(Arg877del)	NC_000002.11:g.47708005_47708007del	(Likely) pathogenic	1 lab	4acb5084e1
10:105893539 CFAP43 G>A	10	105893539	105893539	G	A	CFAP43	c.4435C>T	NM_025145.7	NP_079421.5:p.(Gln1479Ter)	NC_000010.10:g.105893539G>A	VUS	1 lab	00c500f5aa
15:57578351 TCF12 A>G	15	57578351	57578351	A	G	TCF12	c.*12-4A>G	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57578351A>G	(Likely) benign	1 lab	00c51ce270
13:32905114 BRCA2 T>C	13	32905114	32905114	T	C	BRCA2	c.740T>C	NM_000059.3	NP_000050.2:p.(Ile247Thr)	NC_000013.10:g.32905114T>C	(Likely) benign	1 lab	4b5d912fac
13:32906636 BRCA2 T>C	13	32906636	32906636	T	C	BRCA2	c.1021T>C	NM_000059.3	NP_000050.2:p.(Cys341Arg)	NC_000013.10:g.32906636T>C	(Likely) benign	1 lab	4bb5c1af2c
17:41244861 BRCA1 C>T	17	41244861	41244861	C	T	BRCA1	c.2687G>A	NM_007294.3	NP_009225.1:p.(Ser896Asn)	NC_000017.10:g.41244861C>T	(Likely) benign	1 lab	4bc184ecf6
21:47552383 COL6A2 C>G	21	47552383	47552383	C	G	COL6A2	c.2977C>G	NM_001849.4	NP_001840.3:p.(Arg993Gly)	NC_000021.8:g.47552383C>G	VUS	1 lab	00c52d5f8c
3:129202323 IFT122 C>T	3	129202323	129202323	C	T	IFT122	c.1654-5C>T	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129202323C>T	VUS	1 lab	00c5667083
17:56801382 RAD51C T>C	17	56801382	56801382	T	C	RAD51C	c.905-19T>C	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56801382T>C	(Likely) benign	1 lab	4c051bebda
13:32914759 BRCA2 GCAT>G	13	32914759	32914762	GCAT	G	BRCA2	c.6268_6270del	NM_000059.4	NP_000050.3:p.(His2090del)	NC_000013.10:g.32914760_32914762del	(Likely) pathogenic	1 lab	4c48e5cf5e
7:6037018 PMS2 TAGGGGG>T	7	6037018	6037024	TAGGGGG	T	PMS2	c.736_741del	NM_000535.7	NP_000526.2:p.(Pro246_Pro247del)	NC_000007.13:g.6037019_6037024del	(Likely) pathogenic	1 lab	4c5f51673a
16:23625373 PALB2 A>C	16	23625373	23625373	A	C	PALB2	c.3153T>G	NM_024675.3	NP_078951.2:p.(Ile1051Met)	NC_000016.9:g.23625373A>C	VUS	1 lab	4c60abc7e3
9:2159864 SMARCA2 C>T	9	2159864	2159864	C	T	SMARCA2	c.3982-1822C>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2159864C>T	VUS	1 lab	00c8c2169a
3:7620099 GRM7 T>C	3	7620099	7620099	T	C	GRM7	c.1516-10T>C	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.7620099T>C	(Likely) benign	1 lab	069c1816f3
13:32900195 BRCA2 G>GT	13	32900195	32900201	G	GT	BRCA2	c.426-37dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900201dup	(Likely) benign	1 lab	4ca0e47c7a
4:3498590 DOK7 G>A	4	3498590	3498590	G	A	DOK7	c.1540+1G>A	NM_001301071.1	NP_001288000.1:p.?	NC_000004.11:g.3498590G>A	VUS	1 lab	0b09347440
13:32914436 BRCA2 AGT>A	13	32914436	32914439	AGT	A	BRCA2	c.5946_5947del	NM_000059.4	NP_000050.3:p.(Ser1982ArgfsTer20)	NC_000013.10:g.32914438_32914439del	(Likely) pathogenic	1 lab	4cca62f1cc
11:108167858 ATM T>A	11	108167858	108167858	T	A	ATM	c.4910-156T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108167858T>A	(Likely) benign	1 lab	4d11f6c3b0
11:26210791 ANO3 A>C	11	26210791	26210791	A	C	ANO3	c.68A>C	NM_001313726.1	NP_001300655.1:p.(Asn23Thr)	NC_000011.9:g.26210791A>C	(Likely) benign	1 lab	0b896d9098
2:215674281 BARD1 G>T	2	215674281	215674281	G	T	BARD1	c.13C>A	NM_000465.4	NP_000456.2:p.(Arg5=)	NC_000002.11:g.215674281G>T	(Likely) benign	1 lab	4d4ab3fc80
19:12996415 KLF1 G>C	19	12996415	12996415	G	C	KLF1	c.629C>G	NM_006563.5	NP_006554.1:p.(Pro210Arg)	NC_000019.9:g.12996415G>C	(Likely) benign	1 lab	00ca87d76c
11:108196733 ATM T>C	11	108196733	108196733	T	C	ATM	c.6808-52T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108196733T>C	(Likely) benign	1 lab	4d6b1cfb0f
13:32907515 BRCA2 G>T	13	32907515	32907515	G	T	BRCA2	c.1900G>T	NM_000059.3	NP_000050.2:p.(Ala634Ser)	NC_000013.10:g.32907515G>T	VUS	1 lab	4f1de427f2
3:37048441 MLH1 A>G	3	37048441	37048441	A	G	MLH1	c.381-41A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048441A>G	(Likely) benign	1 lab	4d9f1674e0
7:156521367 LMBR1 C>T	7	156521367	156521367	C	T	LMBR1	c.886G>A	NM_022458.4	NP_071903.2:p.(Ala296Thr)	NC_000007.13:g.156521367C>T	VUS	1 lab	00cb270525
16:66526952 BEAN1 G>A	16	66526952	66526952	G	A	BEAN1	c.239G>A	NM_001197224.3	NP_001184153.1:p.(Gly80Asp)	NC_000016.9:g.66526952G>A	(Likely) benign	1 lab	0c14b14354
15:89401774 ACAN G>T	15	89401774	89401774	G	T	ACAN	c.5958G>T	NM_001369268.1	NP_001356197.1:p.(Gly1986=)	NC_000015.9:g.89401774G>T	(Likely) benign	1 lab	00cc95606f
7:6042300 PMS2 T>G	7	6042300	6042300	T	G	PMS2	c.354-33A>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6042300T>G	(Likely) benign	1 lab	4dd91d60bc
15:73418752 NEO1 T>G	15	73418752	73418752	T	G	NEO1	c.725-6T>G	NM_002499.4	NP_002490.2:p.?	NC_000015.9:g.73418752T>G	VUS	1 lab	00ccca173e
7:120385841 KCND2 A>T	7	120385841	120385841	A	T	KCND2	c.1475A>T	NM_012281.3	NP_036413.1:p.(Glu492Val)	NC_000007.13:g.120385841A>T	(Likely) benign	1 lab	00cee47742
17:59871048 BRIP1 A>G	17	59871048	59871048	A	G	BRIP1	c.1383T>C	NM_032043.2	NP_114432.2:p.(Tyr461=)	NC_000017.10:g.59871048A>G	(Likely) benign	1 lab	4e27065c87
17:41246305 BRCA1 C>T	17	41246305	41246305	C	T	BRCA1	c.1243G>A	NM_007294.4	NP_009225.1:p.(Val415Ile)	NC_000017.10:g.41246305C>T	(Likely) benign	1 lab	511e2194bd
13:32911054 BRCA2 C>CAATTCAACCAAAAGGTACAATTCAA	13	32911054	32911056	C	CAATTCAACCAAAAGGTACAATTCAA	BRCA2	c.2563_2564insATTCAACCAAAAGGTACAATTCAAA	NM_000059.3	NP_000050.2:p.(Thr855AsnfsTer34)	NC_000013.10:g.32911055_32911056insATTCAACCAAAAGGTACAATTCAAA	(Likely) pathogenic	1 lab	4e341066b6
11:108163918 ATM G>T	11	108163918	108163918	G	T	ATM	c.4612-122G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108163918G>T	(Likely) benign	1 lab	4e56059ec3
9:131394706 SPTAN1 C>G	9	131394706	131394706	C	G	SPTAN1	c.6960-4C>G	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131394706C>G	(Likely) benign	1 lab	00cfae9320
7:6048556 PMS2 G>A	7	6048556	6048556	G	A	PMS2	c.23+72C>T	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6048556G>A	(Likely) benign	1 lab	4ea11f2790
2:47635570 MSH2 GTAA>G	2	47635570	47635573	GTAA	G	MSH2	c.243_245del	NM_000251.3	NP_000242.1:p.(Ser81_Lys82delinsArg)	NC_000002.11:g.47635571_47635573del	(Likely) pathogenic	1 lab	4ea367e55a
17:7579552 TP53 CAGCAT>C	17	7579552	7579557	CAGCAT	C	TP53	c.130_134del	NM_000546.6	NP_000537.3:p.(Met44ValfsTer6)	NC_000017.10:g.7579553_7579557del	(Likely) pathogenic	1 lab	4f292645da
17:29314972 RNF135 C>G	17	29314972	29314972	C	G	RNF135	c.527C>G	NM_032322.4	NP_115698.3:p.(Ser176Cys)	NC_000017.10:g.29314972C>G	(Likely) benign	1 lab	00d0038d9d
22:29095999 CHEK2 A>G	22	29095999	29095999	A	G	CHEK2	c.909-74T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29095999A>G	(Likely) benign	1 lab	4f38acaaef
1:214820225 CENPF A>ACTG	1	214820225	214820229	A	ACTG	CENPF	c.7314_7316dup	NM_016343.4	NP_057427.3:p.(Ala2439dup)	NC_000001.10:g.214820227_214820229dup	VUS	1 lab	00d03323ff
2:215632125 BARD1 T>C	2	215632125	215632125	T	C	BARD1	c.1568+81A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632125T>C	(Likely) benign	1 lab	4f6aa8a591
13:32910484 BRCA2 G>GACTGAGGA	13	32910484	32910487	G	GACTGAGGA	BRCA2	c.1994_1995insTGAGGAAC	NM_000059.3	NP_000050.2:p.(Ile666GlufsTer5)	NC_000013.10:g.32910486_32910487insTGAGGAAC	(Likely) pathogenic	1 lab	4ff40b4080
2:47612864 EPCAM C>CTG	2	47612864	47612866	C	CTG	EPCAM	c.903+516_903+517insGT	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47612865_47612866insGT	(Likely) benign	1 lab	5037044215
11:108122784 ATM CTGT>C	11	108122784	108122788	CTGT	C	ATM	c.1802+28_1802+30del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108122786_108122788del	(Likely) benign	1 lab	503f01f374
13:32914688 BRCA2 GTTT>G	13	32914688	32914691	GTTT	G	BRCA2	c.6197_6199del	NM_000059.4	NP_000050.3:p.(Val2066_Ser2067delinsAla)	NC_000013.10:g.32914689_32914691del	(Likely) pathogenic	1 lab	504a0ffda9
2:47641558 MSH2 GTAA>G	2	47641558	47641561	GTAA	G	MSH2	c.942+2_942+4del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559_47641561del	(Likely) benign	1 lab	506059ef6f
17:41251683 BRCA1 CCA>C	17	41251683	41251685	CCA	C	BRCA1	c.547+107_547+108del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251684_41251685del	(Likely) benign	1 lab	50628d2985
11:65955458 PACS1 C>T	11	65955458	65955458	C	T	PACS1	c.357-5499C>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65955458C>T	(Likely) benign	1 lab	00d0347d6f
22:41573351 EP300 C>T	22	41573351	41573351	C	T	EP300	c.5636C>T	NM_001429.4	NP_001420.2:p.(Pro1879Leu)	NC_000022.10:g.41573351C>T	VUS	1 lab	00d0fb80bd
12:49435170 KMT2D C>A	12	49435170	49435170	C	A	KMT2D	c.6383G>T	NM_003482.4	NP_003473.3:p.(Ser2128Ile)	NC_000012.11:g.49435170C>A	VUS	1 lab	00d24cadd0
11:71260060 KRTAP5-9 G>A	11	71260060	71260060	G	A	KRTAP5-9	c.357G>A	NM_005553.4	NP_005544.4:p.(Ser119=)	NC_000011.9:g.71260060G>A	VUS	1 lab	00d32e91fd
16:51171313 SALL1 C>T	16	51171313	51171313	C	T	SALL1	c.3685G>A	NM_002968.3	NP_002959.2:p.(Asp1229Asn)	NC_000016.9:g.51171313C>T	VUS	1 lab	00d3d1d1db
X:37027117 FAM47C C>T	X	37027117	37027117	C	T	FAM47C	c.634C>T	NM_001013736.3	NP_001013758.1:p.(Pro212Ser)	NC_000023.10:g.37027117C>T	VUS	1 lab	00d582aad0
19:12984510 MAST1 T>G	19	12984510	12984510	T	G	MAST1	c.3539T>G	NM_014975.3	NP_055790.1:p.(Leu1180Arg)	NC_000019.9:g.12984510T>G	(Likely) pathogenic	1 lab	00d58ee8e2
13:32929229 BRCA2 A>G	13	32929229	32929229	A	G	BRCA2	c.7239A>G	NM_000059.3	NP_000050.2:p.(Lys2413=)	NC_000013.10:g.32929229A>G	(Likely) benign	1 lab	511bde8ff7
3:37067091 MLH1 ATATATATATT>A	3	37067091	37067102	ATATATATATT	A	MLH1	c.1039-35_1039-26del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067093_37067102del	(Likely) benign	1 lab	5143ca7af9
1:6166704 CHD5 T>C	1	6166704	6166704	T	C	CHD5	c.5714A>G	NM_015557.3	NP_056372.1:p.(Asn1905Ser)	NC_000001.10:g.6166704T>C	(Likely) benign	1 lab	00d6e03592
11:108186973 ATM T>G	11	108186973	108186973	T	G	ATM	c.6198+133T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186973T>G	(Likely) benign	1 lab	51d2087c6d
7:124465256 POT1 T>C	7	124465256	124465256	T	C	POT1	c.1792+50A>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124465256T>C	(Likely) benign	1 lab	51f13a3d78
18:43490657 EPG5 T>C	18	43490657	43490657	T	C	EPG5	c.4034A>G	NM_020964.3	NP_066015.2:p.(His1345Arg)	NC_000018.9:g.43490657T>C	VUS	1 lab	00d8e88bbd
2:197662610 GTF3C3 A>T	2	197662610	197662610	A	T	GTF3C3	c.125T>A	NM_012086.5	NP_036218.1:p.(Leu42Ter)	NC_000002.11:g.197662610A>T	VUS	1 lab	00daca751b
1:119530405 TBX15 C>A	1	119530405	119530405	C	A	TBX15	c.14G>T	NM_001330677.2	NP_001317606.1:p.(Arg5Ile)	NC_000001.10:g.119530405C>A	VUS	1 lab	00dae4c28c
2:109378550 RANBP2 T>G	2	109378550	109378550	T	G	RANBP2	c.2603-7T>G	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109378550T>G	(Likely) benign	1 lab	00dbb699ec
2:48028285 MSH6 G>C	2	48028285	48028285	G	C	MSH6	c.3163G>C	NM_000179.2	NP_000170.1:p.(Ala1055Pro)	NC_000002.11:g.48028285G>C	(Likely) pathogenic	1 lab	528d907e0b
22:29085046 CHEK2 A>G	22	29085046	29085046	A	G	CHEK2	c.1542+77T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085046A>G	(Likely) benign	1 lab	52bef0073d
19:34959993 UBA2 C>G	19	34959993	34959993	C	G	UBA2	c.1790C>G	NM_005499.3	NP_005490.1:p.(Ser597Cys)	NC_000019.9:g.34959993C>G	(Likely) benign	1 lab	00dc230c23
7:94996760 PON3 C>A	7	94996760	94996760	C	A	PON3	c.408G>T	NM_000940.3	NP_000931.1:p.(Met136Ile)	NC_000007.13:g.94996760C>A	(Likely) benign	1 lab	00dc3106b5
4:88537504 DSPP CAGCAATGAA>C	4	88537504	88537517	CAGCAATGAA	C	DSPP	c.3695_3703del	NM_014208.3	NP_055023.2:p.(Asn1232_Ser1234del)	NC_000004.11:g.88537509_88537517del	(Likely) benign	1 lab	00ddc4a912
20:31017794 ASXL1 G>T	20	31017794	31017794	G	T	ASXL1	c.656G>T	NM_015338.6	NP_056153.2:p.(Gly219Val)	NC_000020.10:g.31017794G>T	(Likely) benign	1 lab	00de3b1b10
15:89401560 ACAN G>C	15	89401560	89401560	G	C	ACAN	c.5744G>C	NM_001369268.1	NP_001356197.1:p.(Ser1915Thr)	NC_000015.9:g.89401560G>C	VUS	1 lab	00de957301
2:47600684 EPCAM A>C	2	47600684	47600684	A	C	EPCAM	c.159A>C	NM_002354.2	NP_002345.2:p.(Ala53=)	NC_000002.11:g.47600684A>C	(Likely) benign	1 lab	5309a203e9
13:32913073 BRCA2 T>C	13	32913073	32913073	T	C	BRCA2	c.4581T>C	NM_000059.3	NP_000050.2:p.(Ala1527=)	NC_000013.10:g.32913073T>C	(Likely) benign	1 lab	531b4bd87e
17:59876784 BRIP1 CAGAG>C	17	59876784	59876789	CAGAG	C	BRIP1	c.1141-128_1141-125del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59876786_59876789del	(Likely) benign	1 lab	53316e56cb
2:215674090 BARD1 T>A	2	215674090	215674090	T	A	BARD1	c.158+46A>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674090T>A	(Likely) benign	1 lab	537d5e0cf5
17:56780625 RAD51C C>T	17	56780625	56780625	C	T	RAD51C	c.640C>T	NM_058216.1	NP_478123.1:p.(Arg214Cys)	NC_000017.10:g.56780625C>T	VUS	1 lab	537e2d460f
2:48018293 MSH6 T>TTG	2	48018293	48018315	T	TTG	MSH6	c.457+52_457+53dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018314_48018315dup	(Likely) benign	1 lab	53cf7e5c78
3:37061827 MLH1 A>T	3	37061827	37061827	A	T	MLH1	c.911A>T	NM_000249.3	NP_000240.1:p.(Asp304Val)	NC_000003.11:g.37061827A>T	(Likely) pathogenic	1 lab	53da52d8e6
13:32950888 BRCA2 A>G	13	32950888	32950888	A	G	BRCA2	c.8714A>G	NM_000059.3	NP_000050.2:p.(Tyr2905Cys)	NC_000013.10:g.32950888A>G	VUS	1 lab	54567df751
7:100420078 EPHB4 G>T	7	100420078	100420078	G	T	EPHB4	c.623C>A	NM_004444.5	NP_004435.3:p.(Pro208Gln)	NC_000007.13:g.100420078G>T	(Likely) benign	1 lab	00df08fdde
13:32915409 BRCA2 ACAATT>A	13	32915409	32915414	ACAATT	A	BRCA2	c.6841+77_6841+81del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32915410_32915414del	(Likely) benign	1 lab	54ba9547c3
11:17448648 ABCC8 G>A	11	17448648	17448648	G	A	ABCC8	c.2170C>T	NM_000352.6	NP_000343.2:p.(Leu724=)	NC_000011.9:g.17448648G>A	(Likely) benign	1 lab	00e0abc4f5
13:32900930 BRCA2 A>G	13	32900930	32900930	A	G	BRCA2	c.631+180A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900930A>G	(Likely) benign	1 lab	54fe044a29
11:108216378 ATM CCT>C	11	108216378	108216380	CCT	C	ATM	c.8419-91_8419-90del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108216379_108216380del	VUS	1 lab	550c9160cb
10:49935704 WDFY4 G>A	10	49935704	49935704	G	A	WDFY4	c.971G>A	NM_001394531.1	NP_001381460.1:p.(Arg324Gln)	NC_000010.10:g.49935704G>A	VUS	1 lab	00e115f40f
13:32903740 BRCA2 C>G	13	32903740	32903740	C	G	BRCA2	c.681+111C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903740C>G	(Likely) benign	1 lab	553bf5a9f1
13:32914952 BRCA2 TATC>T	13	32914952	32914955	TATC	T	BRCA2	c.6461_6463del	NM_000059.4	NP_000050.3:p.(Tyr2154_Leu2155delinsPhe)	NC_000013.10:g.32914953_32914955del	(Likely) pathogenic	1 lab	556c1bb397
8:11561818 GATA4 G>A	8	11561818	11561818	G	A	GATA4	c.-458+5G>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11561818G>A	(Likely) benign	1 lab	00e1947afd
9:139571464 AGPAT2 G>T	9	139571464	139571464	G	T	AGPAT2	c.441C>A	NM_006412.4	NP_006403.2:p.(Ser147Arg)	NC_000009.11:g.139571464G>T	(Likely) benign	1 lab	00e238a64a
22:29091775 CHEK2 T>A	22	29091775	29091775	T	A	CHEK2	c.1182A>T	NM_007194.4	NP_009125.1:p.(Glu394Asp)	NC_000022.10:g.29091775T>A	(Likely) pathogenic	1 lab	5613378df3
16:2143044 PKD1 A>AT	16	2143044	2143045	A	AT	PKD1	c.11066dup	NM_001009944.3	NP_001009944.3:p.(Tyr3689Ter)	NC_000016.9:g.2143045dup	(Likely) pathogenic	1 lab	00e52fc9c1
17:41242937 BRCA1 TGCA>T	17	41242937	41242940	TGCA	T	BRCA1	c.4185+21_4185+23del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242938_41242940del	(Likely) benign	1 lab	56500a1f4f
17:41244229 BRCA1 C>T	17	41244229	41244229	C	T	BRCA1	c.3319G>A	NM_007294.3	NP_009225.1:p.(Glu1107Lys)	NC_000017.10:g.41244229C>T	(Likely) benign	1 lab	56c8289d5f
14:104642981 KIF26A G>A	14	104642981	104642981	G	A	KIF26A	c.3856G>A	NM_015656.2	NP_056471.1:p.(Gly1286Arg)	NC_000014.8:g.104642981G>A	VUS	1 lab	00e586a693
1:145327610 NBPF10 C>A	1	145327610	145327610	C	A	NBPF10	c.4392C>A	NM_001302371.3	NP_001289300.1:p.(Ser1464Arg)	NC_000001.10:g.145327610C>A	VUS	1 lab	00e61eab2a
11:108158216 ATM C>G	11	108158216	108158216	C	G	ATM	c.3994-111C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108158216C>G	(Likely) benign	1 lab	575fa8dfe0
10:104836047 CNNM2 T>C	10	104836047	104836047	T	C	CNNM2				NC_000010.10:g.104836047T>C	(Likely) benign	1 lab	0004595a80
4:79291096 FRAS1 G>A	4	79291096	79291096	G	A	FRAS1	c.2827G>A	NM_025074.7	NP_079350.5:p.(Ala943Thr)	NC_000004.11:g.79291096G>A	VUS	1 lab	00e67f6066
2:215645176 BARD1 TGAAAGGTTA>T	2	215645176	215645185	TGAAAGGTTA	T	BARD1	c.1314+99_1314+107del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215645177_215645185del	(Likely) benign	1 lab	57a7301cfc
5:79966178 MSH3 G>A	5	79966178	79966178	G	A	MSH3	c.792+50G>A	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79966178G>A	(Likely) benign	1 lab	57f6e024f4
8:61765432 CHD7 C>T	8	61765432	61765432	C	T	CHD7				NC_000008.10:g.61765432C>T	(Likely) pathogenic	1 lab	d429921141
22:29130347 CHEK2 G>GT	22	29130347	29130352	G	GT	CHEK2	c.319+43dup	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29130352dup	(Likely) benign	1 lab	5809f28e36
11:108123484 ATM T>C	11	108123484	108123484	T	C	ATM	c.1803-60T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123484T>C	(Likely) benign	1 lab	5863b72c1e
9:135977404 RALGDS G>A	9	135977404	135977404	G	A	RALGDS	c.2132C>T	NM_006266.4	NP_006257.1:p.(Ser711Leu)	NC_000009.11:g.135977404G>A	VUS	1 lab	00e6bb4ac0
16:2135045 TSC2 C>T	16	2135045	2135045	C	T	TSC2	c.4569+18C>T	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2135045C>T	(Likely) benign	1 lab	593edbacea
17:41246387 BRCA1 GGA>G	17	41246387	41246389	GGA	G	BRCA1	c.1159_1160del	NM_007294.4	NP_009225.1:p.(Ser387GlnfsTer3)	NC_000017.10:g.41246388_41246389del	(Likely) pathogenic	1 lab	5940339fc2
9:21974734 CDKN2A C>T	9	21974734	21974734	C	T	CDKN2A	c.93G>A	NM_000077.4	NP_000068.1:p.(Leu31=)	NC_000009.11:g.21974734C>T	(Likely) benign	1 lab	5943958452
17:41256085 BRCA1 AAG>A	17	41256085	41256088	AAG	A	BRCA1	c.441+52_441+53del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256087_41256088del	(Likely) benign	1 lab	594f0a628f
22:29107769 CHEK2 G>A	22	29107769	29107769	G	A	CHEK2	c.792+128C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29107769G>A	(Likely) benign	1 lab	5984faf396
17:17719179 SREBF1 T>C	17	17719179	17719179	T	C	SREBF1	c.2378A>G	NM_004176.5	NP_004167.3:p.(Asn793Ser)	NC_000017.10:g.17719179T>C	(Likely) benign	1 lab	00e6dfe649
16:2161824 PKD1 G>A	16	2161824	2161824	G	A	PKD1	c.3344C>T	NM_001009944.3	NP_001009944.3:p.(Thr1115Met)	NC_000016.9:g.2161824G>A	(Likely) benign	1 lab	00e7360b01
17:41244327 BRCA1 C>T	17	41244327	41244327	C	T	BRCA1	c.3221G>A	NM_007294.3	NP_009225.1:p.(Arg1074Lys)	NC_000017.10:g.41244327C>T	(Likely) benign	1 lab	59b493b15d
17:79813369 P4HB AAG>A	17	79813369	79813371	AAG	A	P4HB	c.444_445del	NM_000918.4	NP_000909.2:p.(Leu149GlyfsTer32)	NC_000017.10:g.79813370_79813371del	VUS	1 lab	00e7a8366b
17:41245011 BRCA1 TCTA>T	17	41245011	41245014	TCTA	T	BRCA1	c.2534_2536del	NM_007294.4	NP_009225.1:p.(Ile845_Glu846delinsLys)	NC_000017.10:g.41245012_41245014del	(Likely) pathogenic	1 lab	59dd74c786
2:47202201 TTC7A G>A	2	47202201	47202201	G	A	TTC7A	c.607G>A	NM_020458.4	NP_065191.2:p.(Ala203Thr)	NC_000002.11:g.47202201G>A	VUS	1 lab	00e8213626
15:65256045 SPG21 G>A	15	65256045	65256045	G	A	SPG21				NC_000015.9:g.65256045G>A	(Likely) benign	1 lab	184ad0ea9f
3:37067093 MLH1 ATATATATTTT>A	3	37067093	37067104	ATATATATTTT	A	MLH1	c.1039-33_1039-24del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067104del	(Likely) benign	1 lab	59ee180af6
X:31511144 DMD TA>T	X	31511144	31511153	TA	T	DMD	c.8547+3760del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31511153del	VUS	1 lab	00e9df9287
13:32900201 BRCA2 T>A	13	32900201	32900201	T	A	BRCA2	c.426-37T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900201T>A	(Likely) benign	1 lab	59ffbbc116
13:32932049 BRCA2 AAAAG>A	13	32932049	32932055	AAAAG	A	BRCA2	c.7791_7794del	NM_000059.4	NP_000050.3:p.(Glu2598AsnfsTer49)	NC_000013.10:g.32932052_32932055del	(Likely) pathogenic	1 lab	5a1086cec6
15:72189952 MYO9A T>A	15	72189952	72189952	T	A	MYO9A	c.4892A>T	NM_006901.4	NP_008832.2:p.(Asn1631Ile)	NC_000015.9:g.72189952T>A	(Likely) benign	1 lab	00ea9c990e
16:23619346 PALB2 A>C	16	23619346	23619346	A	C	PALB2	c.3202-13T>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23619346A>C	(Likely) benign	1 lab	5a35feb6a8
13:32907198 BRCA2 A>G	13	32907198	32907198	A	G	BRCA2	c.1583A>G	NM_000059.3	NP_000050.2:p.(Asn528Ser)	NC_000013.10:g.32907198A>G	(Likely) benign	1 lab	5a7fe991c5
2:47702451 MSH2 G>T	2	47702451	47702451	G	T	MSH2	c.2005+42G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702451G>T	(Likely) benign	1 lab	5aa0f984e7
7:100280070 GIGYF1 C>T	7	100280070	100280070	C	T	GIGYF1	c.2636G>A	NM_001375765.1	NP_001362694.1:p.(Arg879His)	NC_000007.13:g.100280070C>T	(Likely) benign	1 lab	00eeb70bde
X:54319764 WNK3 T>C	X	54319764	54319764	T	C	WNK3	c.1694-4A>G	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54319764T>C	(Likely) benign	1 lab	00f236ea12
3:37053347 MLH1 T>TA	3	37053347	37053353	T	TA	MLH1	c.588dup	NM_000249.3	NP_000240.1:p.(Gln197ThrfsTer7)	NC_000003.11:g.37053353dup	(Likely) pathogenic	1 lab	5aa6e23f03
13:32937312 BRCA2 TTA>T	13	32937312	32937314	TTA	T	BRCA2	c.7977-3_7977-2del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937313_32937314del	(Likely) pathogenic	1 lab	5ac49f7102
7:103234188 RELN C>A	7	103234188	103234188	C	A	RELN	c.3853G>T	NM_005045.4	NP_005036.2:p.(Asp1285Tyr)	NC_000007.13:g.103234188C>A	VUS	1 lab	00f292e00b
17:41247864 BRCA1 C>CT	17	41247864	41247870	C	CT	BRCA1	c.668dup	NM_007294.3	NP_009225.1:p.(Ala224GlyfsTer4)	NC_000017.10:g.41247870dup	(Likely) pathogenic	1 lab	5adb762736
16:23640444 PALB2 G>A	16	23640444	23640444	G	A	PALB2	c.2586+81C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640444G>A	(Likely) benign	1 lab	5b02e8bcf9
13:32893196 BRCA2 GAT>G	13	32893196	32893198	GAT	G	BRCA2	c.68-17_68-16del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32893197_32893198del	(Likely) benign	1 lab	5b0537b69e
2:73799955 ALMS1 C>T	2	73799955	73799955	C	T	ALMS1	c.10951C>T	NM_001378454.1	NP_001365383.1:p.(His3651Tyr)	NC_000002.11:g.73799955C>T	(Likely) benign	1 lab	00f386ae3c
3:37048746 MLH1 C>T	3	37048746	37048746	C	T	MLH1	c.453+192C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048746C>T	(Likely) benign	1 lab	5b35ad9584
3:113528506 ATP6V1A A>G	3	113528506	113528506	A	G	ATP6V1A	c.*232A>G	NM_001690.4	NP_001681.2:p.?	NC_000003.11:g.113528506A>G	(Likely) benign	1 lab	00f448db3b
17:1946073 DPH1 A>C	17	1946073	1946073	A	C	DPH1	c.*193A>C	NM_001383.6	NP_001374.4:p.?	NC_000017.10:g.1946073A>C	VUS	1 lab	00f4e57578
6:26108299 H1-6 G>A	6	26108299	26108299	G	A	H1-6	c.23C>T	NM_005323.4	NP_005314.2:p.(Ala8Val)	NC_000006.11:g.26108299G>A	(Likely) benign	1 lab	00f7050d8d
2:48010605 MSH6 G>A	2	48010605	48010605	G	A	MSH6	c.233G>A	NM_000179.2	NP_000170.1:p.(Arg78Lys)	NC_000002.11:g.48010605G>A	(Likely) benign	1 lab	5b788a3334
16:23635551 PALB2 CTCT>C	16	23635551	23635555	CTCT	C	PALB2	c.2749-139_2749-137del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635553_23635555del	(Likely) benign	1 lab	5bc596fdec
13:32913537 BRCA2 G>A	13	32913537	32913537	G	A	BRCA2	c.5045G>A	NM_000059.3	NP_000050.2:p.(Ser1682Asn)	NC_000013.10:g.32913537G>A	(Likely) benign	1 lab	5bc5d9f347
3:52436459 BAP1 T>G	3	52436459	52436459	T	G	BAP1	c.2057-22A>C	NM_004656.2	NP_004647.1:p.?	NC_000003.11:g.52436459T>G	(Likely) benign	1 lab	5bcaee203d
17:41258724 BRCA1 A>G	17	41258724	41258724	A	G	BRCA1	c.135-174T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258724A>G	(Likely) benign	1 lab	5befde9b08
13:32911312 BRCA2 A>C	13	32911312	32911312	A	C	BRCA2	c.2820A>C	NM_000059.3	NP_000050.2:p.(Gln940His)	NC_000013.10:g.32911312A>C	(Likely) benign	1 lab	5c00349b07
13:32899293 BRCA2 C>T	13	32899293	32899293	C	T	BRCA2	c.397C>T	NM_000059.3	NP_000050.2:p.(Pro133Ser)	NC_000013.10:g.32899293C>T	(Likely) benign	1 lab	5c031c103d
9:97365719 FBP1 A>AC	9	97365719	97365720	A	AC	FBP1	c.960_961insG	NM_000507.4	NP_000498.2:p.(Ser321ValfsTer13)	NC_000009.11:g.97365719_97365720insC	(Likely) pathogenic	1 lab	00fbc7cc4b
17:41246332 BRCA1 TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA>T	17	41246332	41246373	TTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA	T	BRCA1	c.1175_1215del	NM_007294.4	NP_009225.1:p.(Leu392GlnfsTer6)	NC_000017.10:g.41246333_41246373del	(Likely) pathogenic	1 lab	5c4b81b3e4
13:32906859 BRCA2 A>G	13	32906859	32906859	A	G	BRCA2	c.1244A>G	NM_000059.3	NP_000050.2:p.(His415Arg)	NC_000013.10:g.32906859A>G	(Likely) benign	1 lab	5c83eb3131
13:35923280 NBEA G>A	13	35923280	35923280	G	A	NBEA	c.5939G>A	NM_001385012.1	NP_001371941.1:p.(Arg1980His)	NC_000013.10:g.35923280G>A	VUS	1 lab	00f76d118c
16:23641039 PALB2 G>A	16	23641039	23641039	G	A	PALB2	c.2436C>T	NM_024675.3	NP_078951.2:p.(Pro812=)	NC_000016.9:g.23641039G>A	(Likely) benign	1 lab	5cc3cd76a7
16:71012855 HYDIN T>C	16	71012855	71012855	T	C	HYDIN	c.4600A>G	NM_001270974.2	NP_001257903.1:p.(Ile1534Val)	NC_000016.9:g.71012855T>C	(Likely) benign	1 lab	00f828b8ae
5:42711393 GHR C>T	5	42711393	42711393	C	T	GHR	c.703C>T	NM_000163.5	NP_000154.1:p.(Arg235Ter)	NC_000005.9:g.42711393C>T	(Likely) pathogenic	1 lab	00f89d5ce6
X:70360632 MED12 G>GCAGCAGCAACAGCAGCAT	X	70360632	70360647	G	GCAGCAGCAACAGCAGCAT	MED12	c.6206_6207insGCATCAGCAGCAACAGCA	NM_005120.3	NP_005111.2:p.(Gln2069_Gln2070insHisGlnGlnGlnGlnGln)	NC_000023.10:g.70360646_70360647insGCATCAGCAGCAACAGCA	(Likely) benign	1 lab	00f8d6db2f
15:89398160 ACAN T>C	15	89398160	89398160	T	C	ACAN	c.2344T>C	NM_001369268.1	NP_001356197.1:p.(Ser782Pro)	NC_000015.9:g.89398160T>C	VUS	1 lab	00f98c5b75
13:32890613 BRCA2 AAAG>A	13	32890613	32890617	AAAG	A	BRCA2	c.18_20del	NM_000059.4	NP_000050.3:p.(Glu7del)	NC_000013.10:g.32890615_32890617del	(Likely) pathogenic	1 lab	5d15fdebcc
13:32900278 BRCA2 GATA>G	13	32900278	32900282	GATA	G	BRCA2	c.468_470del	NM_000059.4	NP_000050.3:p.(Asp156_Lys157delinsGlu)	NC_000013.10:g.32900280_32900282del	(Likely) pathogenic	1 lab	5d27fd1ada
2:215645925 BARD1 C>CT	2	215645925	215645930	C	CT	BARD1	c.672dup	NM_000465.4	NP_000456.2:p.(Glu225ArgfsTer4)	NC_000002.11:g.215645930dup	(Likely) pathogenic	1 lab	5d6697b15b
17:7578431 TP53 G>A	17	7578431	7578431	G	A	TP53	c.499C>T	NM_000546.6	NP_000537.3:p.(Gln167Ter)	NC_000017.10:g.7578431G>A	(Likely) pathogenic	1 lab	5d9b75ed6a
11:86663296 FZD4 G>A	11	86663296	86663296	G	A	FZD4				NC_000011.9:g.86663296G>A	(Likely) benign	1 lab	18cb4fb225
7:111617177 DOCK4 G>A	7	111617177	111617177	G	A	DOCK4	c.701+10C>T	NM_001363540.2	NP_001350469.1:p.?	NC_000007.13:g.111617177G>A	(Likely) benign	1 lab	00fa45cb37
22:31850322 EIF4ENIF1 T>C	22	31850322	31850322	T	C	EIF4ENIF1	c.1320A>G	NM_019843.4	NP_062817.2:p.(Ala440=)	NC_000022.10:g.31850322T>C	(Likely) benign	1 lab	00faf5aae9
17:41244910 BRCA1 C>G	17	41244910	41244910	C	G	BRCA1	c.2638G>C	NM_007294.3	NP_009225.1:p.(Glu880Gln)	NC_000017.10:g.41244910C>G	(Likely) benign	1 lab	5e036c0d1d
2:47702449 MSH2 TTG>T	2	47702449	47702452	TTG	T	MSH2	c.2005+42_2005+43del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702451_47702452del	(Likely) benign	1 lab	5e08009944
4:119654028 SEC24D T>C	4	119654028	119654028	T	C	SEC24D	c.2536A>G	NM_014822.4	NP_055637.2:p.(Met846Val)	NC_000004.11:g.119654028T>C	(Likely) benign	1 lab	00fc37ddfb
2:215661911 BARD1 A>C	2	215661911	215661911	A	C	BARD1	c.159-70T>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661911A>C	(Likely) benign	1 lab	5e493e152b
13:32910341 BRCA2 A>C	13	32910341	32910341	A	C	BRCA2	c.1910-61A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32910341A>C	(Likely) benign	1 lab	5e55fc35a8
19:15308326 NOTCH3 C>T	19	15308326	15308326	C	T	NOTCH3	c.182G>A	NM_000435.3	NP_000426.2:p.(Arg61Gln)	NC_000019.9:g.15308326C>T	VUS	1 lab	00ff773e1e
17:41228586 BRCA1 TTC>T	17	41228586	41228589	TTC	T	BRCA1	c.4401_4402del	NM_007294.4	NP_009225.1:p.(Asn1468SerfsTer7)	NC_000017.10:g.41228588_41228589del	(Likely) pathogenic	1 lab	5e5cdff63f
2:73762025 ALMS1 C>T	2	73762025	73762025	C	T	ALMS1	c.9856C>T	NM_001378454.1	NP_001365383.1:p.(Pro3286Ser)	NC_000002.11:g.73762025C>T	VUS	1 lab	00ffd40c8f
17:41228668 BRCA1 C>T	17	41228668	41228668	C	T	BRCA1	c.4358-37G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228668C>T	(Likely) benign	1 lab	5ea7b7465d
17:59934613 BRIP1 A>G	17	59934613	59934613	A	G	BRIP1	c.206-21T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59934613A>G	(Likely) benign	1 lab	5eb985c155
2:48027684 MSH6 G>T	2	48027684	48027684	G	T	MSH6	c.2562G>T	NM_000179.2	NP_000170.1:p.(Lys854Asn)	NC_000002.11:g.48027684G>T	(Likely) benign	1 lab	5ef87012b5
2:74466611 SLC4A5 CCTT>C	2	74466611	74466617	CCTT	C	SLC4A5	c.2167_2169del	NM_133478.3	NP_597812.1:p.(Lys723del)	NC_000002.11:g.74466615_74466617del	VUS	1 lab	0100a88fe4
11:108178742 ATM A>T	11	108178742	108178742	A	T	ATM	c.5762+31A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108178742A>T	(Likely) benign	1 lab	5f134f7051
8:144890966 SCRIB C>G	8	144890966	144890966	C	G	SCRIB	c.1928G>C	NM_182706.5	NP_874365.3:p.(Gly643Ala)	NC_000008.10:g.144890966C>G	VUS	1 lab	0100f5bae3
21:47773898 PCNT C>T	21	47773898	47773898	C	T	PCNT	c.1680-3C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47773898C>T	(Likely) benign	1 lab	01018870dc
15:89398815 ACAN T>C	15	89398815	89398815	T	C	ACAN	c.2999T>C	NM_001369268.1	NP_001356197.1:p.(Val1000Ala)	NC_000015.9:g.89398815T>C	(Likely) benign	1 lab	0101d8a95c
2:48033458 MSH6 A>T	2	48033458	48033458	A	T	MSH6	c.3762A>T	NM_000179.2	NP_000170.1:p.(Glu1254Asp)	NC_000002.11:g.48033458A>T	VUS	1 lab	5f815fb6b3
7:42005625 GLI3 G>C	7	42005625	42005625	G	C	GLI3	c.3046C>G	NM_000168.6	NP_000159.3:p.(Leu1016Val)	NC_000007.13:g.42005625G>C	(Likely) benign	1 lab	010233c117
14:95578444 DICER1 T>A	14	95578444	95578444	T	A	DICER1	c.2116+65A>T	NM_030621.4	NP_085124.2:p.?	NC_000014.8:g.95578444T>A	(Likely) benign	1 lab	5fe5a66794
11:108168128 ATM C>G	11	108168128	108168128	C	G	ATM	c.5005+19C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108168128C>G	VUS	1 lab	6001cd80f0
13:32912034 BRCA2 AATT>A	13	32912034	32912037	AATT	A	BRCA2	c.3543_3545del	NM_000059.4	NP_000050.3:p.(Gln1181_Phe1182delinsHis)	NC_000013.10:g.32912035_32912037del	(Likely) pathogenic	1 lab	6039577f42
14:24029598 AP1G2 G>A	14	24029598	24029598	G	A	AP1G2	c.2023C>T	NM_003917.5	NP_003908.1:p.(Arg675Cys)	NC_000014.8:g.24029598G>A	VUS	1 lab	010402d5d2
17:59885766 BRIP1 T>C	17	59885766	59885766	T	C	BRIP1	c.918+62A>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59885766T>C	(Likely) benign	1 lab	6058b97b14
1:241661222 FH G>C	1	241661222	241661222	G	C	FH	c.1439C>G	NM_000143.4	NP_000134.2:p.(Ser480Ter)	NC_000001.10:g.241661222G>C	(Likely) pathogenic	1 lab	606c39f278
2:215632392 BARD1 T>C	2	215632392	215632392	T	C	BARD1	c.1396-14A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632392T>C	(Likely) pathogenic	1 lab	6074948f37
14:21469445 SLC39A2 C>T	14	21469445	21469445	C	T	SLC39A2	c.637C>T	NM_014579.4	NP_055394.2:p.(Arg213Trp)	NC_000014.8:g.21469445C>T	VUS	1 lab	01041ffe63
17:33430689 RAD51D C>T	17	33430689	33430689	C	T	RAD51D	c.577-126G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430689C>T	(Likely) benign	1 lab	60fdfe1906
17:41244481 BRCA1 C>T	17	41244481	41244481	C	T	BRCA1	c.3067G>A	NM_007294.3	NP_009225.1:p.(Val1023Met)	NC_000017.10:g.41244481C>T	(Likely) benign	1 lab	6157682b67
17:41243936 BRCA1 T>C	17	41243936	41243936	T	C	BRCA1	c.3612A>G	NM_007294.3	NP_009225.1:p.(Arg1204=)	NC_000017.10:g.41243936T>C	(Likely) benign	1 lab	6161d54a77
2:215661938 BARD1 T>C	2	215661938	215661938	T	C	BARD1	c.159-97A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661938T>C	(Likely) benign	1 lab	63c3bf0719
17:41244530 BRCA1 ATG>A	17	41244530	41244533	ATG	A	BRCA1	c.3016_3017del	NM_007294.4	NP_009225.1:p.(His1006PhefsTer5)	NC_000017.10:g.41244532_41244533del	(Likely) pathogenic	1 lab	619d7792b0
2:99172276 INPP4A G>A	2	99172276	99172276	G	A	INPP4A	c.1822+5G>A	NM_001134225.2	NP_001127697.1:p.?	NC_000002.11:g.99172276G>A	(Likely) benign	1 lab	01053521f4
2:220107263 GLB1L C>T	2	220107263	220107263	C	T	GLB1L	c.424G>A	NM_001286423.2	NP_001273352.1:p.(Glu142Lys)	NC_000002.11:g.220107263C>T	(Likely) benign	1 lab	0105e758ca
16:71808467 LOC127884468 TG>T	16	71808467	71808468	TG	T	LOC127884468				NC_000016.9:g.71808468del	VUS	1 lab	1fa9234bb9
4:55564578 KIT C>A	4	55564578	55564578	C	A	KIT	c.466C>A	NM_000222.3	NP_000213.1:p.(Leu156Ile)	NC_000004.11:g.55564578C>A	VUS	1 lab	0106746496
3:52804681 NEK4 C>A	3	52804681	52804681	C	A	NEK4	c.82G>T	NM_003157.6	NP_003148.2:p.(Asp28Tyr)	NC_000003.11:g.52804681C>A	(Likely) benign	1 lab	0107032173
X:49104943 CCDC22 G>A	X	49104943	49104943	G	A	CCDC22	c.1288G>A	NM_014008.5	NP_054727.1:p.(Ala430Thr)	NC_000023.10:g.49104943G>A	(Likely) benign	1 lab	010738d7f9
10:100152306 PYROXD2 C>A	10	100152306	100152306	C	A	PYROXD2	c.945G>T	NM_032709.3	NP_116098.2:p.(Gln315His)	NC_000010.10:g.100152306C>A	(Likely) benign	1 lab	0107691bfe
13:32971100 BRCA2 C>G	13	32971100	32971100	C	G	BRCA2	c.9567C>G	NM_000059.4	NP_000050.3:p.(Pro3189=)	NC_000013.10:g.32971100C>G	(Likely) benign	1 lab	62be8ff62c
11:108129727 ATM GAT>G	11	108129727	108129729	GAT	G	ATM	c.2392_2393del	NM_000051.4	NP_000042.3:p.(Ile798CysfsTer16)	NC_000011.9:g.108129728_108129729del	(Likely) pathogenic	1 lab	6340e179c1
17:27822674 TAOK1 C>T	17	27822674	27822674	C	T	TAOK1	c.928C>T	NM_020791.4	NP_065842.1:p.(Arg310Ter)	NC_000017.10:g.27822674C>T	(Likely) pathogenic	1 lab	01088f94be
2:215595069 BARD1 T>G	2	215595069	215595069	T	G	BARD1	c.2001+66A>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215595069T>G	(Likely) benign	1 lab	639a1e34d2
17:41246186 BRCA1 ACT>A	17	41246186	41246192	ACT	A	BRCA1	c.1360_1361del	NM_007294.4	NP_009225.1:p.(Ser454Ter)	NC_000017.10:g.41246191_41246192del	(Likely) pathogenic	1 lab	639ca79dea
4:140265464 NAA15 G>A	4	140265464	140265464	G	A	NAA15	c.662G>A	NM_057175.5	NP_476516.1:p.(Cys221Tyr)	NC_000004.11:g.140265464G>A	VUS	1 lab	0109356053
10:96043539 PLCE1 A>G	10	96043539	96043539	A	G	PLCE1	c.4796-8A>G	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.96043539A>G	(Likely) benign	1 lab	010ada85d0
4:187629550 FAT1 T>C	4	187629550	187629550	T	C	FAT1	c.1432A>G	NM_005245.4	NP_005236.2:p.(Ile478Val)	NC_000004.11:g.187629550T>C	VUS	1 lab	010b8e7696
13:32937489 BRCA2 C>T	13	32937489	32937489	C	T	BRCA2	c.8150C>T	NM_000059.3	NP_000050.2:p.(Ala2717Val)	NC_000013.10:g.32937489C>T	(Likely) benign	1 lab	63d726674d
7:2552896 LFNG T>TGGAC	7	2552896	2552900	T	TGGAC	LFNG	c.156_157insCGGA	NM_001166355.1	NP_001159827.1:p.(Trp53ArgfsTer5)	NC_000007.13:g.2552899_2552900insCGGA	VUS	1 lab	0c237efa55
13:32913279 BRCA2 ATTC>A	13	32913279	32913283	ATTC	A	BRCA2	c.4789_4791del	NM_000059.4	NP_000050.3:p.(Ser1597del)	NC_000013.10:g.32913281_32913283del	(Likely) pathogenic	1 lab	644cfb5b9d
17:7579333 TP53 TGTCCCAGAATGCAAGAA>T	17	7579333	7579351	TGTCCCAGAATGCAAGAA	T	TP53	c.337_353del	NM_000546.6	NP_000537.3:p.(Phe113SerfsTer30)	NC_000017.10:g.7579335_7579351del	(Likely) pathogenic	1 lab	6461779aac
13:32905218 BRCA2 GATT>G	13	32905218	32905221	GATT	G	BRCA2	c.793+52_793+54del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905219_32905221del	(Likely) benign	1 lab	64a44b33fc
17:41249241 BRCA1 A>G	17	41249241	41249241	A	G	BRCA1	c.593+20T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249241A>G	(Likely) benign	1 lab	64acba9bea
17:41249310 BRCA1 A>C	17	41249310	41249310	A	C	BRCA1	c.548-4T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249310A>C	VUS	1 lab	64be331ca7
19:39998652 DLL3 G>T	19	39998652	39998652	G	T	DLL3	c.1758+98G>T	NM_203486.3	NP_982353.1:p.?	NC_000019.9:g.39998652G>T	VUS	1 lab	010ba727c0
22:21663625 FAM230H T>TGCCG	22	21663625	21663626	T	TGCCG	FAM230H	n.625_626insCGGC	NR_136559.1		NC_000022.10:g.21663625_21663626insGCCG	(Likely) benign	1 lab	0c248a8412
2:179516495 TTN T>G	2	179516495	179516495	T	G	TTN	c.39380-19A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516495T>G	(Likely) benign	1 lab	010be25886
16:2810469 SRRM2 C>T	16	2810469	2810469	C	T	SRRM2	c.1001C>T	NM_016333.4	NP_057417.3:p.(Pro334Leu)	NC_000016.9:g.2810469C>T	(Likely) benign	1 lab	010c394148
16:2158439 PKD1 CTG>C	16	2158439	2158444	CTG	C	PKD1	c.6727_6728del	NM_001009944.3	NP_001009944.3:p.(Gln2243GlufsTer18)	NC_000016.9:g.2158443_2158444del	(Likely) pathogenic	1 lab	010c5935b5
13:32913943 BRCA2 T>C	13	32913943	32913943	T	C	BRCA2	c.5451T>C	NM_000059.3	NP_000050.2:p.(Ser1817=)	NC_000013.10:g.32913943T>C	(Likely) benign	1 lab	664468dba4
11:108115478 ATM C>T	11	108115478	108115478	C	T	ATM	c.663-37C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115478C>T	(Likely) benign	1 lab	664fa12093
2:48033743 MSH6 AAAAGC>A	2	48033743	48033750	AAAAGC	A	MSH6	c.3957_3961del	NM_000179.3	NP_000170.1:p.(Ala1320ArgfsTer3)	NC_000002.11:g.48033746_48033750del	(Likely) pathogenic	1 lab	66e96b84d9
11:108128361 ATM T>G	11	108128361	108128361	T	G	ATM	c.2376+28T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128361T>G	(Likely) benign	1 lab	67176cb977
1:110086485 GPR61 G>T	1	110086485	110086485	G	T	GPR61	c.841G>T	NM_001393907.1	NP_001380836.1:p.(Gly281Trp)	NC_000001.10:g.110086485G>T	VUS	1 lab	010dde8d15
2:179396409 TTN T>C	2	179396409	179396409	T	C	TTN	c.104933A>G	NM_001267550.2	NP_001254479.2:p.(Asn34978Ser)	NC_000002.11:g.179396409T>C	VUS	1 lab	010ec69688
15:89402128 ACAN C>T	15	89402128	89402128	C	T	ACAN	c.6312C>T	NM_001369268.1	NP_001356197.1:p.(Ser2104=)	NC_000015.9:g.89402128C>T	(Likely) benign	1 lab	01107cab52
5:92921056 NR2F1 C>A	5	92921056	92921056	C	A	NR2F1	c.327C>A	NM_005654.6	NP_005645.1:p.(Phe109Leu)	NC_000005.9:g.92921056C>A	(Likely) pathogenic	1 lab	0112512037
17:41199509 BRCA1 AAT>A	17	41199509	41199512	AAT	A	BRCA1	c.5467+149_5467+150del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41199511_41199512del	(Likely) benign	1 lab	6850683fd4
17:7578479 TP53 G>A	17	7578479	7578479	G	A	TP53	c.451C>T	NM_000546.5	NP_000537.3:p.(Pro151Ser)	NC_000017.10:g.7578479G>A	(Likely) pathogenic	1 lab	688f5eaf88
3:37038184 MLH1 A>G	3	37038184	37038184	A	G	MLH1	c.191A>G	NM_000249.3	NP_000240.1:p.(Asn64Ser)	NC_000003.11:g.37038184A>G	VUS	1 lab	689ecd3b51
11:108206666 ATM A>T	11	108206666	108206666	A	T	ATM	c.8246A>T	NM_000051.3	NP_000042.3:p.(Lys2749Ile)	NC_000011.9:g.108206666A>T	VUS	1 lab	68cfe83628
5:5191884 ADAMTS16 G>T	5	5191884	5191884	G	T	ADAMTS16	c.1294G>T	NM_139056.4	NP_620687.2:p.(Ala432Ser)	NC_000005.9:g.5191884G>T	VUS	1 lab	013c96981d
11:108121551 ATM A>G	11	108121551	108121551	A	G	ATM	c.1359A>G	NM_000051.3	NP_000042.3:p.(Pro453=)	NC_000011.9:g.108121551A>G	(Likely) benign	1 lab	68e03f5029
2:47698102 MSH2 A>G	2	47698102	47698102	A	G	MSH2				NC_000002.11:g.47698102A>G	(Likely) pathogenic	1 lab	1fd92dc192
11:108173409 ATM C>A	11	108173409	108173409	C	A	ATM	c.5320-171C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108173409C>A	(Likely) benign	1 lab	68fe1e03f6
13:32910588 BRCA2 AGTTAT>A	13	32910588	32910593	AGTTAT	A	BRCA2	c.2097_2101del	NM_000059.4	NP_000050.3:p.(Gln699HisfsTer7)	NC_000013.10:g.32910589_32910593del	(Likely) pathogenic	1 lab	6904eac588
4:6288806 WFS1 C>T	4	6288806	6288806	C	T	WFS1	c.233-14C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6288806C>T	(Likely) benign	1 lab	0112ecb68f
2:47656928 MSH2 C>CTA	2	47656928	47656930	C	CTA	MSH2	c.1125_1126insAT	NM_000251.2	NP_000242.1:p.(Leu376IlefsTer37)	NC_000002.11:g.47656929_47656930insAT	(Likely) pathogenic	1 lab	690d05b0c3
11:108128330 ATM C>T	11	108128330	108128330	C	T	ATM	c.2373C>T	NM_000051.3	NP_000042.3:p.(Thr791=)	NC_000011.9:g.108128330C>T	(Likely) benign	1 lab	6928d68234
14:105634147 JAG2 C>CGGCCCG	14	105634147	105634159	C	CGGCCCG	JAG2	c.358_363dup	NM_002226.5	NP_002217.3:p.(Arg120_Ala121dup)	NC_000014.8:g.105634154_105634159dup	VUS	1 lab	01144f605b
17:41197720 BRCA1 GGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTC>G	17	41197720	41197784	GGTATCAGGTAGGTGTCCAGCTCCTGGCACTGGTAGAGTGCTACACTGTCCAACACCCACTCTC	G	BRCA1	c.5504_5566del	NM_007294.4	NP_009225.1:p.(Arg1835_Ile1855del)	NC_000017.10:g.41197722_41197784del	(Likely) pathogenic	1 lab	692b8236bb
17:59853734 BRIP1 GCA>G	17	59853734	59853736	GCA	G	BRIP1	c.2097+26_2097+27del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853735_59853736del	(Likely) benign	1 lab	69588471bd
17:41215988 BRCA1 C>CA	17	41215988	41215991	C	CA	BRCA1	c.5075-21dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215991dup	(Likely) benign	1 lab	696beb94b4
12:100452642 BLTP3B T>C	12	100452642	100452642	T	C	BLTP3B	c.2413A>G	NM_015054.2	NP_055869.1:p.(Ile805Val)	NC_000012.11:g.100452642T>C	VUS	1 lab	01161634ba
17:41276043 BRCA1 CACT>C	17	41276043	41276046	CACT	C	BRCA1	c.68_70del	NM_007294.4	NP_009225.1:p.(Glu23_Cys24delinsGly)	NC_000017.10:g.41276044_41276046del	(Likely) pathogenic	1 lab	69bd6b195b
7:2579495 BRAT1 G>A	7	2579495	2579495	G	A	BRAT1	c.1423C>T	NM_152743.4	NP_689956.2:p.(Leu475Phe)	NC_000007.13:g.2579495G>A	VUS	1 lab	01162797f0
X:15353635 PIGA T>C	X	15353635	15353635	T	C	PIGA	c.-75A>G	NM_002641.4	NP_002632.1:p.?	NC_000023.10:g.15353635T>C	(Likely) benign	1 lab	0116d5683d
1:176709244 PAPPA2 G>T	1	176709244	176709244	G	T	PAPPA2	c.4063G>T	NM_020318.3	NP_064714.2:p.(Val1355Leu)	NC_000001.10:g.176709244G>T	VUS	1 lab	0117b29bb9
9:21968652 CDKN2A G>C	9	21968652	21968652	G	C	CDKN2A	c.458-411C>G	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21968652G>C	(Likely) benign	1 lab	6a21513e3d
16:10788200 TEKT5 C>G	16	10788200	10788200	C	G	TEKT5	c.531G>C	NM_144674.2	NP_653275.1:p.(Glu177Asp)	NC_000016.9:g.10788200C>G	(Likely) benign	1 lab	011858b059
13:32973016 BRCA2 G>T	13	32973016	32973016	G	T	BRCA2	c.*109G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32973016G>T	(Likely) benign	1 lab	6a38afc6ae
17:41245682 BRCA1 C>A	17	41245682	41245682	C	A	BRCA1	c.1866G>T	NM_007294.3	NP_009225.1:p.(Ala622=)	NC_000017.10:g.41245682C>A	(Likely) benign	1 lab	6a9d612aae
17:7579834 TP53 CTCACAGTT>C	17	7579834	7579844	CTCACAGTT	C	TP53	c.71_74+4del	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7579837_7579844del	(Likely) pathogenic	1 lab	6ad5aab495
17:7579792 TP53 G>A	17	7579792	7579792	G	A	TP53	c.74+47C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579792G>A	VUS	1 lab	6aec9b4d5d
17:41226436 BRCA1 AATGAGCTCCTCT>A	17	41226436	41226448	AATGAGCTCCTCT	A	BRCA1	c.4575_4586del	NM_007294.4	NP_009225.1:p.(Gln1525_Ile1529delinsHis)	NC_000017.10:g.41226437_41226448del	(Likely) pathogenic	1 lab	6b00235f7e
5:37064671 NIPBL G>A	5	37064671	37064671	G	A	NIPBL	c.8092G>A	NM_133433.4	NP_597677.2:p.(Ala2698Thr)	NC_000005.9:g.37064671G>A	VUS	1 lab	0119be9556
17:59761271 BRIP1 C>G	17	59761271	59761271	C	G	BRIP1	c.3136G>C	NM_032043.2	NP_114432.2:p.(Val1046Leu)	NC_000017.10:g.59761271C>G	(Likely) benign	1 lab	6b2829e4ea
11:108123407 ATM T>C	11	108123407	108123407	T	C	ATM	c.1803-137T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123407T>C	(Likely) benign	1 lab	6b2b6ec6bb
7:6037049 PMS2 T>C	7	6037049	6037049	T	C	PMS2	c.711A>G	NM_000535.5	NP_000526.1:p.(Gln237=)	NC_000007.13:g.6037049T>C	(Likely) benign	1 lab	6ccdd10870
17:41243773 BRCA1 TCTC>T	17	41243773	41243779	TCTC	T	BRCA1	c.3772_3774del	NM_007294.4	NP_009225.1:p.(Glu1258del)	NC_000017.10:g.41243777_41243779del	(Likely) pathogenic	1 lab	6b365a1f20
17:79899044 MYADML2 C>T	17	79899044	79899044	C	T	MYADML2	c.574G>A	NM_001145113.3	NP_001138585.2:p.(Val192Met)	NC_000017.10:g.79899044C>T	(Likely) benign	1 lab	011b7eea0c
12:52308204 ACVRL1 C>T	12	52308204	52308204	C	T	ACVRL1	c.626-19C>T	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52308204C>T	(Likely) benign	1 lab	6b4d2bdd12
7:149488922 SSPOP A>G	7	149488922	149488922	A	G	SSPOP	n.5559A>G	NR_163594.1		NC_000007.13:g.149488922A>G	VUS	1 lab	e973660515
2:47703601 MSH2 G>T	2	47703601	47703601	G	T	MSH2	c.2101G>T	NM_000251.2	NP_000242.1:p.(Glu701Ter)	NC_000002.11:g.47703601G>T	(Likely) pathogenic	1 lab	6b9cf23971
6:152779986 SYNE1 G>A	6	152779986	152779986	G	A	SYNE1	c.2474C>T	NM_182961.4	NP_892006.3:p.(Thr825Met)	NC_000006.11:g.152779986G>A	(Likely) benign	1 lab	011d3f8fab
17:41246438 BRCA1 AACAT>A	17	41246438	41246442	AACAT	A	BRCA1	c.1106_1109del	NM_007294.4	NP_009225.1:p.(Asp369ValfsTer4)	NC_000017.10:g.41246439_41246442del	(Likely) benign	1 lab	6bcb62c126
16:23640603 PALB2 AAAC>A	16	23640603	23640608	AAAC	A	PALB2	c.2515-10_2515-8del	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640606_23640608del	VUS	1 lab	6c093b48b5
17:7578492 TP53 CCACAGCTGCACAGGGCAGGTCTTGG>C	17	7578492	7578518	CCACAGCTGCACAGGGCAGGTCTTGG	C	TP53	c.413_437del	NM_000546.6	NP_000537.3:p.(Ala138GlyfsTer24)	NC_000017.10:g.7578494_7578518del	VUS	1 lab	6c1712e45c
17:48431838 XYLT2 G>A	17	48431838	48431838	G	A	XYLT2	c.698G>A	NM_022167.4	NP_071450.2:p.(Arg233Gln)	NC_000017.10:g.48431838G>A	VUS	1 lab	011d425ddd
19:17756536 UNC13A G>T	19	17756536	17756536	G	T	UNC13A	c.2303C>A	NM_001080421.3	NP_001073890.2:p.(Thr768Lys)	NC_000019.9:g.17756536G>T	VUS	1 lab	011ebf3c37
12:49434570 KMT2D T>C	12	49434570	49434570	T	C	KMT2D	c.6983A>G	NM_003482.4	NP_003473.3:p.(Lys2328Arg)	NC_000012.11:g.49434570T>C	VUS	1 lab	011f7b8fa3
17:41256088 BRCA1 AAAAAAAAAAGAAAAG>A	17	41256088	41256105	AAAAAAAAAAGAAAAG	A	BRCA1	c.441+36_441+50del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256091_41256105del	(Likely) benign	1 lab	6c8b2c8824
11:14666564 PDE3B A>G	11	14666564	14666564	A	G	PDE3B	c.943A>G	NM_000922.4	NP_000913.2:p.(Arg315Gly)	NC_000011.9:g.14666564A>G	VUS	1 lab	01203a21f1
14:21359955 RNASE3 G>T	14	21359955	21359955	G	T	RNASE3	c.110G>T	NM_002935.3	NP_002926.2:p.(Trp37Leu)	NC_000014.8:g.21359955G>T	VUS	1 lab	012110bdf2
3:37090013 MLH1 G>GA	3	37090013	37090015	G	GA	MLH1	c.1904dup	NM_000249.3	NP_000240.1:p.(Asn635LysfsTer10)	NC_000003.11:g.37090015dup	(Likely) pathogenic	1 lab	6cf11929c3
X:48933098 WDR45 AAGG>A	X	48933098	48933106	AAGG	A	WDR45	c.749_751del	NM_001029896.2	NP_001025067.1:p.(Ser250del)	NC_000023.10:g.48933104_48933106del	(Likely) pathogenic	1 lab	0121e36884
13:32914639 BRCA2 G>T	13	32914639	32914639	G	T	BRCA2	c.6147G>T	NM_000059.3	NP_000050.2:p.(Val2049=)	NC_000013.10:g.32914639G>T	(Likely) benign	1 lab	6d723b1b87
3:121206620 POLQ G>A	3	121206620	121206620	G	A	POLQ	c.5158C>T	NM_199420.4	NP_955452.3:p.(Leu1720Phe)	NC_000003.11:g.121206620G>A	(Likely) benign	1 lab	0123746d09
11:108127101 ATM A>C	11	108127101	108127101	A	C	ATM	c.2250+34A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108127101A>C	(Likely) benign	1 lab	6e7dbb2a38
17:7579408 TP53 CAG>C	17	7579408	7579410	CAG	C	TP53	c.277_278del	NM_000546.6	NP_000537.3:p.(Leu93ValfsTer55)	NC_000017.10:g.7579409_7579410del	(Likely) pathogenic	1 lab	6ea61a9e09
13:32905218 BRCA2 GAT>G	13	32905218	32905220	GAT	G	BRCA2	c.793+52_793+53del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905219_32905220del	(Likely) benign	1 lab	6ea62c8b80
12:99192770 ANKS1B A>C	12	99192770	99192770	A	C	ANKS1B	c.3284T>G	NM_001352186.2	NP_001339115.1:p.(Met1095Arg)	NC_000012.11:g.99192770A>C	VUS	1 lab	01245b4930
13:20611051 ZMYM2 C>T	13	20611051	20611051	C	T	ZMYM2	c.2292+2C>T	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20611051C>T	(Likely) benign	1 lab	012576e457
19:36211220 KMT2B A>G	19	36211220	36211220	A	G	KMT2B	c.971A>G	NM_014727.3	NP_055542.1:p.(Glu324Gly)	NC_000019.9:g.36211220A>G	VUS	1 lab	0126171adb
2:215609693 BARD1 G>A	2	215609693	215609693	G	A	BARD1	c.1903+98C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215609693G>A	(Likely) benign	1 lab	6f6066309b
16:86544210 FOXF1 ACGGCGGCGGCGGCGG>A	16	86544210	86544234	ACGGCGGCGGCGGCGG	A	FOXF1	c.45_59del	NM_001451.3	NP_001442.2:p.(Gly19_Gly23del)	NC_000016.9:g.86544220_86544234del	VUS	1 lab	01270e7f1b
11:71155233 DHCR7 C>T	11	71155233	71155233	C	T	DHCR7	c.127G>A	NM_001360.3	NP_001351.2:p.(Val43Ile)	NC_000011.9:g.71155233C>T	VUS	1 lab	0129b3be9d
17:29508818 NF1 GAT>G	17	29508818	29508820	GAT	G	NF1	c.730+16_730+17del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508819_29508820del	(Likely) benign	1 lab	6fafd7a7c0
22:21712023 LINC01651 G>GC	22	21712023	21712026	G	GC	LINC01651	n.392-156dup	NR_170329.1		NC_000022.10:g.21712026dup	VUS	1 lab	0d0c602c2a
12:58144665 CDK4 C>T	12	58144665	58144665	C	T	CDK4	c.522+41G>A	NM_000075.4	NP_000066.1:p.?	NC_000012.11:g.58144665C>T	(Likely) benign	1 lab	6fdb923fd0
11:108183385 ATM G>A	11	108183385	108183385	G	A	ATM	c.6006+160G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108183385G>A	(Likely) benign	1 lab	6ff2e90532
19:13136373 NFIX C>T	19	13136373	13136373	C	T	NFIX	c.559+7C>T	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13136373C>T	VUS	1 lab	012a370c0d
11:108119614 ATM TCA>T	11	108119614	108119616	TCA	T	ATM	c.1066-45_1066-44del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108119615_108119616del	(Likely) benign	1 lab	7036056249
3:37048633 MLH1 A>G	3	37048633	37048633	A	G	MLH1	c.453+79A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048633A>G	(Likely) benign	1 lab	709ca61584
13:32913464 BRCA2 C>T	13	32913464	32913464	C	T	BRCA2	c.4972C>T	NM_000059.3	NP_000050.2:p.(Gln1658Ter)	NC_000013.10:g.32913464C>T	(Likely) pathogenic	1 lab	709f82e5f4
X:10102548 WWC3 G>A	X	10102548	10102548	G	A	WWC3	c.2675G>A	NM_015691.3	NP_056506.2:p.(Arg892Gln)	NC_000023.10:g.10102548G>A	(Likely) benign	1 lab	0d657515de
11:108198646 ATM C>T	11	108198646	108198646	C	T	ATM	c.7089+161C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198646C>T	(Likely) benign	1 lab	71e238d67c
13:32931848 BRCA2 TTTC>T	13	32931848	32931853	TTTC	T	BRCA2	c.7618-28_7618-26del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32931851_32931853del	(Likely) benign	1 lab	70ab19aeae
11:108187014 ATM A>G	11	108187014	108187014	A	G	ATM	c.6198+174A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108187014A>G	(Likely) benign	1 lab	70ad6bf227
16:9017061 USP7 T>TACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA	16	9017061	9017064	T	TACAACGATGTGGGGGTTTGTAGTTGCATCATTTAA	USP7	c.383+10_383+11insTTAAATGATGCAACTACAAACCCCCACATCGTTGT	NM_003470.3	NP_003461.2:p.?	NC_000016.9:g.9017063_9017064insAACGATGTGGGGGTTTGTAGTTGCATCATTTAAAC	(Likely) benign	1 lab	012a890da8
1:168044663 DCAF6 A>G	1	168044663	168044663	A	G	DCAF6	c.2846A>G	NM_001198956.2	NP_001185885.1:p.(Asp949Gly)	NC_000001.10:g.168044663A>G	(Likely) benign	1 lab	012b2e78da
2:47612984 EPCAM A>AT	2	47612984	47612991	A	AT	EPCAM	c.903+642dup	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47612991dup	(Likely) benign	1 lab	70df528833
2:215595215 BARD1 G>A	2	215595215	215595215	G	A	BARD1	c.1921C>T	NM_000465.4	NP_000456.2:p.(Arg641Ter)	NC_000002.11:g.215595215G>A	(Likely) pathogenic	1 lab	70ea79c21e
13:32954187 BRCA2 C>T	13	32954187	32954187	C	T	BRCA2	c.9161C>T	NM_000059.3	NP_000050.2:p.(Pro3054Leu)	NC_000013.10:g.32954187C>T	(Likely) benign	1 lab	7127598298
11:108098456 ATM AAAT>A	11	108098456	108098461	AAAT	A	ATM	c.72+36_72+38del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098459_108098461del	(Likely) benign	1 lab	714d248405
11:108099832 ATM A>G	11	108099832	108099832	A	G	ATM	c.186-73A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108099832A>G	(Likely) benign	1 lab	715ab7b044
22:29091855 CHEK2 CAG>C	22	29091855	29091857	CAG	C	CHEK2	c.1100_1101del	NM_007194.4	NP_009125.1:p.(Thr367ArgfsTer27)	NC_000022.10:g.29091856_29091857del	(Likely) pathogenic	1 lab	716c1c192b
13:32893347 BRCA2 G>GA	13	32893347	32893350	G	GA	BRCA2	c.204dup	NM_000059.3	NP_000050.2:p.(Pro69ThrfsTer4)	NC_000013.10:g.32893350dup	(Likely) pathogenic	1 lab	71865a619c
X:69366634 IGBP1 G>T	X	69366634	69366634	G	T	IGBP1	c.634G>T	NM_001551.3	NP_001542.1:p.(Asp212Tyr)	NC_000023.10:g.69366634G>T	VUS	1 lab	072f681c2f
11:108106645 ATM A>G	11	108106645	108106645	A	G	ATM	c.496+84A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108106645A>G	(Likely) benign	1 lab	72338c79c5
11:1467101 BRSK2 C>T	11	1467101	1467101	C	T	BRSK2	c.1190C>T	NM_001256627.2	NP_001243556.1:p.(Ala397Val)	NC_000011.9:g.1467101C>T	(Likely) benign	1 lab	0131a01a2a
11:60668790 PRPF19 A>G	11	60668790	60668790	A	G	PRPF19	c.619T>C	NM_014502.5	NP_055317.1:p.(Tyr207His)	NC_000011.9:g.60668790A>G	VUS	1 lab	01328d1340
3:44938299 TGM4 G>A	3	44938299	44938299	G	A	TGM4	c.648G>A	NM_003241.4	NP_003232.2:p.(Met216Ile)	NC_000003.11:g.44938299G>A	VUS	1 lab	013321f951
17:41256181 BRCA1 ACG>A	17	41256181	41256183	ACG	A	BRCA1	c.397_398del	NM_007294.4	NP_009225.1:p.(Arg133CysfsTer8)	NC_000017.10:g.41256182_41256183del	(Likely) pathogenic	1 lab	72a8492ea2
16:2134719 TSC2 G>A	16	2134719	2134719	G	A	TSC2	c.4493+3G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2134719G>A	VUS	1 lab	72b8f88faa
17:59857609 BRIP1 A>C	17	59857609	59857609	A	C	BRIP1	c.1935+13T>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59857609A>C	(Likely) benign	1 lab	72cbf7e047
11:108121751 ATM ACAG>A	11	108121751	108121754	ACAG	A	ATM	c.1560_1562del	NM_000051.4	NP_000042.3:p.(Asp520_Arg521delinsGlu)	NC_000011.9:g.108121752_108121754del	(Likely) pathogenic	1 lab	72cef9584f
15:34131151 RYR3 A>G	15	34131151	34131151	A	G	RYR3	c.12970A>G	NM_001036.6	NP_001027.3:p.(Lys4324Glu)	NC_000015.9:g.34131151A>G	VUS	1 lab	0135168b48
17:59857598 BRIP1 CCAA>C	17	59857598	59857601	CCAA	C	BRIP1	c.1935+21_1935+23del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857599_59857601del	(Likely) benign	1 lab	7397376d5e
17:33434383 RAD51D A>C	17	33434383	33434383	A	C	RAD51D	c.345+2T>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33434383A>C	(Likely) pathogenic	1 lab	73a687ba3e
2:163133342 IFIH1 C>G	2	163133342	163133342	C	G	IFIH1	c.2159G>C	NM_022168.4	NP_071451.2:p.(Arg720Pro)	NC_000002.11:g.163133342C>G	VUS	1 lab	0138946111
11:108115472 ATM T>A	11	108115472	108115472	T	A	ATM	c.663-43T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115472T>A	(Likely) benign	1 lab	73eeb8ceb3
2:48033708 MSH6 A>AATCTC	2	48033708	48033713	A	AATCTC	MSH6	c.3920_3924dup	NM_000179.2	NP_000170.1:p.(Pro1309IlefsTer20)	NC_000002.11:g.48033709_48033713dup	(Likely) pathogenic	1 lab	73fc168570
17:59870931 BRIP1 G>A	17	59870931	59870931	G	A	BRIP1	c.1473+27C>T	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59870931G>A	(Likely) benign	1 lab	7401f4e39a
13:32929404 BRCA2 AAGT>A	13	32929404	32929407	AAGT	A	BRCA2	c.7415_7417del	NM_000059.4	NP_000050.3:p.(Lys2472_Cys2473delinsSer)	NC_000013.10:g.32929405_32929407del	(Likely) pathogenic	1 lab	74176aabd3
8:100865889 VPS13B T>A	8	100865889	100865889	T	A	VPS13B	c.10272T>A	NM_152564.5	NP_689777.3:p.(Cys3424Ter)	NC_000008.10:g.100865889T>A	(Likely) pathogenic	1 lab	013897b8f7
11:108202477 ATM T>TGCAG	11	108202477	108202484	T	TGCAG	ATM	c.7630-125_7630-122dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202481_108202484dup	(Likely) benign	1 lab	744fb218d2
17:41245803 BRCA1 G>A	17	41245803	41245803	G	A	BRCA1	c.1745C>T	NM_007294.3	NP_009225.1:p.(Thr582Met)	NC_000017.10:g.41245803G>A	(Likely) benign	1 lab	74c18ab3aa
X:129306161 RAB33A T>C	X	129306161	129306161	T	C	RAB33A	c.125T>C	NM_004794.3	NP_004785.1:p.(Ile42Thr)	NC_000023.10:g.129306161T>C	VUS	1 lab	01399b30ea
17:7579714 TP53 CAG>C	17	7579714	7579716	CAG	C	TP53	c.80_81del	NM_000546.6	NP_000537.3:p.(Pro27ArgfsTer15)	NC_000017.10:g.7579715_7579716del	(Likely) pathogenic	1 lab	7528d3ec58
11:111963792 SDHD C>T	11	111963792	111963792	C	T	SDHD	c.315-12C>T	NM_001276506.2	NP_001263435.1:p.?	NC_000011.9:g.111963792C>T	(Likely) benign	1 lab	75476e4d8e
4:5747028 EVC A>C	4	5747028	5747028	A	C	EVC	c.899A>C	NM_153717.3	NP_714928.1:p.(Glu300Ala)	NC_000004.11:g.5747028A>C	VUS	1 lab	013af906b3
1:160851977 ITLN1 G>A	1	160851977	160851977	G	A	ITLN1	c.175C>T	NM_017625.3	NP_060095.2:p.(Arg59Cys)	NC_000001.10:g.160851977G>A	(Likely) benign	1 lab	013c6283b2
5:179071822 SPATA31J1 G>C	5	179071822	179071822	G	C	SPATA31J1	c.200C>G	NM_001142306.1	NP_001135778.1:p.(Pro67Arg)	NC_000005.9:g.179071822G>C	(Likely) benign	1 lab	0dadd82f36
2:215674371 BARD1 C>T	2	215674371	215674371	C	T	BARD1	c.-78G>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674371C>T	(Likely) benign	1 lab	76157a6415
2:47639579 MSH2 C>G	2	47639579	47639579	C	G	MSH2	c.672C>G	NM_000251.2	NP_000242.1:p.(Ile224Met)	NC_000002.11:g.47639579C>G	(Likely) benign	1 lab	765328ee5f
12:45833557 ANO6 G>A	12	45833557	45833557	G	A	ANO6	c.2626G>A	NM_001142679.1	NP_001136151.1:p.(Asp876Asn)	NC_000012.11:g.45833557G>A	(Likely) benign	1 lab	0dfa52cbf2
17:56798152 RAD51C GCCTTGCTTGTT>G	17	56798152	56798166	GCCTTGCTTGTT	G	RAD51C	c.887_897del	NM_058216.3	NP_478123.1:p.(Leu296CysfsTer48)	NC_000017.10:g.56798156_56798166del	(Likely) pathogenic	1 lab	765c6537d3
2:48025840 MSH6 C>T	2	48025840	48025840	C	T	MSH6	c.718C>T	NM_000179.2	NP_000170.1:p.(Arg240Ter)	NC_000002.11:g.48025840C>T	(Likely) pathogenic	1 lab	766fefab78
11:108123421 ATM A>G	11	108123421	108123421	A	G	ATM	c.1803-123A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123421A>G	(Likely) benign	1 lab	76a6b16adb
2:47656801 MSH2 G>A	2	47656801	47656801	G	A	MSH2	c.1077-80G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47656801G>A	(Likely) benign	1 lab	771a5538ba
19:6713983 C3 C>T	19	6713983	6713983	C	T	C3				NC_000019.9:g.6713983C>T	(Likely) benign	1 lab	23fd5a4f9c
17:59876563 BRIP1 ACT>A	17	59876563	59876565	ACT	A	BRIP1	c.1236_1237del	NM_032043.3	NP_114432.2:p.(Glu412AspfsTer9)	NC_000017.10:g.59876564_59876565del	(Likely) pathogenic	1 lab	77492551ff
22:29115552 CHEK2 A>G	22	29115552	29115552	A	G	CHEK2	c.593-79T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115552A>G	(Likely) benign	1 lab	774e40648f
19:19308064 RFXANK C>T	19	19308064	19308064	C	T	RFXANK	c.337+4C>T	NM_003721.2	NP_003712.1:p.?	NC_000019.9:g.19308064C>T	(Likely) benign	1 lab	37b008a85f
3:183884444 DVL3 G>A	3	183884444	183884444	G	A	DVL3	c.1031G>A	NM_004423.4	NP_004414.3:p.(Cys344Tyr)	NC_000003.11:g.183884444G>A	(Likely) benign	1 lab	013cf71d36
17:41245425 BRCA1 G>A	17	41245425	41245425	G	A	BRCA1	c.2123C>T	NM_007294.3	NP_009225.1:p.(Ser708Phe)	NC_000017.10:g.41245425G>A	(Likely) benign	1 lab	78333149aa
3:9483352 SETD5 A>G	3	9483352	9483352	A	G	SETD5	c.886A>G	NM_001080517.3	NP_001073986.1:p.(Thr296Ala)	NC_000003.11:g.9483352A>G	(Likely) benign	1 lab	013d588312
17:41228466 BRCA1 T>C	17	41228466	41228466	T	C	BRCA1	c.4484+39A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41228466T>C	(Likely) benign	1 lab	784a3bc94f
19:15349549 BRD4 C>A	19	15349549	15349549	C	A	BRD4	c.4020+5G>T	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15349549C>A	VUS	1 lab	013e18e310
11:71941511 INPPL1 G>A	11	71941511	71941511	G	A	INPPL1	c.1196G>A	NM_001567.4	NP_001558.3:p.(Arg399Gln)	NC_000011.9:g.71941511G>A	VUS	1 lab	013ea706aa
11:108204556 ATM TGACCTTC>T	11	108204556	108204563	TGACCTTC	T	ATM	c.7928-56_7928-50del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108204557_108204563del	(Likely) benign	1 lab	7885185057
13:32953499 BRCA2 C>T	13	32953499	32953499	C	T	BRCA2	c.8800C>T	NM_000059.3	NP_000050.2:p.(Gln2934Ter)	NC_000013.10:g.32953499C>T	(Likely) pathogenic	1 lab	78b3246e05
22:29106017 CHEK2 C>A	22	29106017	29106017	C	A	CHEK2	c.823G>T	NM_007194.4	NP_009125.1:p.(Glu275Ter)	NC_000022.10:g.29106017C>A	(Likely) pathogenic	1 lab	78f95569a7
17:41243676 BRCA1 CATTTTG>C	17	41243676	41243682	CATTTTG	C	BRCA1	c.3866_3871del	NM_007294.4	NP_009225.1:p.(Thr1289_Cys1291delinsSer)	NC_000017.10:g.41243677_41243682del	(Likely) pathogenic	1 lab	7905a124a9
9:14807937 FREM1 C>T	9	14807937	14807937	C	T	FREM1				NC_000009.11:g.14807937C>T	(Likely) pathogenic	1 lab	2542fbb4f3
13:32911989 BRCA2 T>C	13	32911989	32911989	T	C	BRCA2	c.3497T>C	NM_000059.3	NP_000050.2:p.(Val1166Ala)	NC_000013.10:g.32911989T>C	(Likely) benign	1 lab	7928b0aabe
12:49318860 FKBP11 G>A	12	49318860	49318860	G	A	FKBP11	c.164C>T	NM_016594.3	NP_057678.1:p.(Ala55Val)	NC_000012.11:g.49318860G>A	(Likely) benign	1 lab	0142664153
20:31375211 DNMT3B C>T	20	31375211	31375211	C	T	DNMT3B	c.608C>T	NM_006892.4	NP_008823.1:p.(Pro203Leu)	NC_000020.10:g.31375211C>T	VUS	1 lab	014821f0dc
11:108115671 ATM TTC>T	11	108115671	108115674	TTC	T	ATM	c.821_822del	NM_000051.4	NP_000042.3:p.(Ser274PhefsTer7)	NC_000011.9:g.108115673_108115674del	(Likely) pathogenic	1 lab	79818cef1c
18:33736556 ELP2 G>A	18	33736556	33736556	G	A	ELP2	c.1403G>A	NM_018255.4	NP_060725.1:p.(Arg468Gln)	NC_000018.9:g.33736556G>A	VUS	1 lab	0143463585
12:56574790 SMARCC2 T>C	12	56574790	56574790	T	C	SMARCC2	c.1052A>G	NM_001330288.2	NP_001317217.1:p.(Asn351Ser)	NC_000012.11:g.56574790T>C	(Likely) benign	1 lab	014349ced7
19:51207015 SHANK1 G>A	19	51207015	51207015	G	A	SHANK1	c.1295C>T	NM_016148.5	NP_057232.2:p.(Pro432Leu)	NC_000019.9:g.51207015G>A	VUS	1 lab	0145291361
6:32007893 TNXB A>G	6	32007893	32007893	A	G	TNXB				NC_000006.11:g.32007893A>G	(Likely) pathogenic	1 lab	01abda46bb
17:41201070 BRCA1 A>G	17	41201070	41201070	A	G	BRCA1	c.5406+68T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41201070A>G	(Likely) benign	1 lab	79ec0ea12b
17:41215996 BRCA1 T>G	17	41215996	41215996	T	G	BRCA1	c.5075-28A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215996T>G	(Likely) benign	1 lab	7a35513bee
20:43378783 KCNK15 C>CATAGAGTACG	20	43378783	43378784	C	CATAGAGTACG	KCNK15	c.297_298insATAGAGTACG	NM_022358.4	NP_071753.2:p.(Ala100IlefsTer265)	NC_000020.10:g.43378783_43378784insATAGAGTACG	VUS	1 lab	014656a49c
7:6035163 PMS2 A>G	7	6035163	6035163	A	G	PMS2	c.903+2T>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6035163A>G	(Likely) pathogenic	1 lab	7ac2336cfc
3:37053604 MLH1 CTA>C	3	37053604	37053610	CTA	C	MLH1	c.677+19_677+20del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053609_37053610del	(Likely) benign	1 lab	7ace5749c1
2:219920255 IHH C>T	2	219920255	219920255	C	T	IHH	c.910G>A	NM_002181.4	NP_002172.2:p.(Val304Met)	NC_000002.11:g.219920255C>T	VUS	1 lab	0146867bf6
11:108139322 ATM C>T	11	108139322	108139322	C	T	ATM	c.2824C>T	NM_000051.3	NP_000042.3:p.(Leu942Phe)	NC_000011.9:g.108139322C>T	(Likely) benign	1 lab	7aea304473
2:48023222 MSH6 CAGTT>C	2	48023222	48023226	CAGTT	C	MSH6	c.627+21_627+24del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48023223_48023226del	(Likely) benign	1 lab	7b001711ed
11:108202082 ATM A>G	11	108202082	108202082	A	G	ATM	c.7516-89A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202082A>G	VUS	1 lab	7b26090ed7
2:50149107 NRXN1 T>G	2	50149107	50149107	T	G	NRXN1	c.4499A>C	NM_001330078.2	NP_001317007.1:p.(Asn1500Thr)	NC_000002.11:g.50149107T>G	VUS	1 lab	014704c295
5:86679564 RASA1 A>G	5	86679564	86679564	A	G	RASA1	c.2725A>G	NM_002890.3	NP_002881.1:p.(Ile909Val)	NC_000005.9:g.86679564A>G	(Likely) benign	1 lab	014787e8d4
17:33428251 RAD51D C>T	17	33428251	33428251	C	T	RAD51D	c.872G>A	NM_002878.4	NP_002869.3:p.(Arg291His)	NC_000017.10:g.33428251C>T	VUS	1 lab	0149eb2bfb
X:149905177 MTMR1 G>C	X	149905177	149905177	G	C	MTMR1	c.1191G>C	NM_001306144.3	NP_001293073.1:p.(Glu397Asp)	NC_000023.10:g.149905177G>C	VUS	1 lab	014a0d6abd
13:32953600 BRCA2 AAC>A	13	32953600	32953602	AAC	A	BRCA2	c.8902_8903del	NM_000059.4	NP_000050.3:p.(Thr2968ArgfsTer49)	NC_000013.10:g.32953601_32953602del	(Likely) pathogenic	1 lab	7bfb9acebc
22:29115541 CHEK2 A>C	22	29115541	29115541	A	C	CHEK2	c.593-68T>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115541A>C	(Likely) benign	1 lab	7c1840d61a
2:48032088 MSH6 G>A	2	48032088	48032088	G	A	MSH6	c.3478G>A	NM_000179.2	NP_000170.1:p.(Val1160Ile)	NC_000002.11:g.48032088G>A	(Likely) benign	1 lab	7c5eac57c3
13:32915134 BRCA2 TTACTC>T	13	32915134	32915139	TTACTC	T	BRCA2	c.6643_6647del	NM_000059.4	NP_000050.3:p.(Tyr2215GlnfsTer8)	NC_000013.10:g.32915135_32915139del	(Likely) pathogenic	1 lab	7c6830c2be
17:63531768 AXIN2 G>A	17	63531768	63531768	G	A	AXIN2	c.2213C>T	NM_004655.4	NP_004646.3:p.(Ser738Phe)	NC_000017.10:g.63531768G>A	(Likely) benign	1 lab	014b5dea37
11:108163306 ATM A>G	11	108163306	108163306	A	G	ATM	c.4437-40A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108163306A>G	(Likely) benign	1 lab	7caa7eb7fa
22:29121166 CHEK2 G>A	22	29121166	29121166	G	A	CHEK2	c.445-54C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29121166G>A	(Likely) benign	1 lab	7cae6e4cf4
10:89487252 PAPSS2 T>C	10	89487252	89487252	T	C	PAPSS2	c.1086+6T>C	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89487252T>C	(Likely) benign	1 lab	014bf89dd9
17:41245698 BRCA1 GTAGA>G	17	41245698	41245702	GTAGA	G	BRCA1	c.1846_1849del	NM_007294.4	NP_009225.1:p.(Ser616ProfsTer9)	NC_000017.10:g.41245699_41245702del	VUS	1 lab	7cdebfd07a
13:32890625 BRCA2 A>G	13	32890625	32890625	A	G	BRCA2	c.28A>G	NM_000059.3	NP_000050.2:p.(Thr10Ala)	NC_000013.10:g.32890625A>G	(Likely) benign	1 lab	7ce1af0591
17:29563073 NF1 TTG>T	17	29563073	29563076	TTG	T	NF1	c.3974+36_3974+37del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29563075_29563076del	(Likely) benign	1 lab	7d01233a4c
2:47637413 MSH2 C>T	2	47637413	47637413	C	T	MSH2	c.547C>T	NM_000251.2	NP_000242.1:p.(Gln183Ter)	NC_000002.11:g.47637413C>T	(Likely) pathogenic	1 lab	7d1a603967
3:37067126 MLH1 A>C	3	37067126	37067126	A	C	MLH1	c.1039-2A>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067126A>C	(Likely) pathogenic	1 lab	7d2b4bf886
2:215610445 BARD1 CCT>C	2	215610445	215610447	CCT	C	BARD1	c.1809_1810del	NM_000465.4	NP_000456.2:p.(Val604AsnfsTer8)	NC_000002.11:g.215610446_215610447del	(Likely) pathogenic	1 lab	7d2b6de3e6
17:7576501 TP53 G>A	17	7576501	7576501	G	A	TP53	c.993+352C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7576501G>A	(Likely) benign	1 lab	7d3ab83f2f
2:215632155 BARD1 T>C	2	215632155	215632155	T	C	BARD1	c.1568+51A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632155T>C	(Likely) benign	1 lab	7d4e126774
21:46935817 SLC19A1 C>A	21	46935817	46935817	C	A	SLC19A1	c.1531G>T	NM_194255.4	NP_919231.1:p.(Val511Leu)	NC_000021.8:g.46935817C>A	VUS	1 lab	014cae926a
11:108126892 ATM A>G	11	108126892	108126892	A	G	ATM	c.2125-50A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108126892A>G	(Likely) benign	1 lab	7dbd6fa83f
13:32968713 BRCA2 T>G	13	32968713	32968713	T	G	BRCA2	c.9257-113T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968713T>G	(Likely) benign	1 lab	7dce9324aa
1:16261895 SPEN G>A	1	16261895	16261895	G	A	SPEN	c.9160G>A	NM_015001.3	NP_055816.2:p.(Ala3054Thr)	NC_000001.10:g.16261895G>A	VUS	1 lab	01509d7e80
2:48028159 MSH6 A>T	2	48028159	48028159	A	T	MSH6	c.3037A>T	NM_000179.2	NP_000170.1:p.(Lys1013Ter)	NC_000002.11:g.48028159A>T	(Likely) pathogenic	1 lab	7e151ccd8a
3:129226554 IFT122 C>G	3	129226554	129226554	C	G	IFT122	c.2835C>G	NM_052989.3	NP_443715.1:p.(Phe945Leu)	NC_000003.11:g.129226554C>G	(Likely) benign	1 lab	015205bb74
11:108225534 ATM C>G	11	108225534	108225534	C	G	ATM	c.8787-4C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108225534C>G	(Likely) benign	1 lab	7e2baa8d11
3:12422851 PPARG C>T	3	12422851	12422851	C	T	PPARG	c.251C>T	NM_138711.6	NP_619725.3:p.(Pro84Leu)	NC_000003.11:g.12422851C>T	VUS	1 lab	01544f9027
11:108195913 ATM T>A	11	108195913	108195913	T	A	ATM	c.6573-124T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108195913T>A	(Likely) benign	1 lab	7e5cbffe9a
17:41243478 BRCA1 TCTTGA>T	17	41243478	41243483	TCTTGA	T	BRCA1	c.4065_4069del	NM_007294.4	NP_009225.1:p.(Asn1355LysfsTer11)	NC_000017.10:g.41243479_41243483del	(Likely) pathogenic	1 lab	7e797e4eb7
14:75506548 MLH3 CCATATATATATATATAT>C	14	75506548	75506565	CCATATATATATATATAT	C	MLH3	c.3570+49_3570+65del	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506549_75506565del	(Likely) benign	1 lab	7e8c7742e2
8:37620154 PLPBP G>T	8	37620154	37620154	G	T	PLPBP	c.-24G>T	NM_001349346.1	NP_001336275.1:p.?	NC_000008.10:g.37620154G>T	VUS	1 lab	117c1b62ba
17:48272622 COL1A1 C>T	17	48272622	48272622	C	T	COL1A1	c.1270G>A	NM_000088.4	NP_000079.2:p.(Gly424Ser)	NC_000017.10:g.48272622C>T	(Likely) benign	1 lab	01549fc4f6
17:41251752 BRCA1 G>T	17	41251752	41251752	G	T	BRCA1	c.547+40C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251752G>T	(Likely) benign	1 lab	7ea9e9f28b
13:32937461 BRCA2 ACTAG>A	13	32937461	32937465	ACTAG	A	BRCA2	c.8123_8126del	NM_000059.4	NP_000050.3:p.(Thr2708IlefsTer24)	NC_000013.10:g.32937462_32937465del	VUS	1 lab	7eb0c771ca
17:41244898 BRCA1 TTGCA>T	17	41244898	41244902	TTGCA	T	BRCA1	c.2646_2649del	NM_007294.4	NP_009225.1:p.(Cys882Ter)	NC_000017.10:g.41244899_41244902del	(Likely) pathogenic	1 lab	7eb93801f7
2:47641558 MSH2 GTAAA>G	2	47641558	47641562	GTAAA	G	MSH2	c.942+2_942+5del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559_47641562del	(Likely) benign	1 lab	7ed9c8b4ab
19:13323028 CACNA1A G>A	19	13323028	13323028	G	A	CACNA1A	c.6192C>T	NM_001127222.2	NP_001120694.1:p.(Ser2064=)	NC_000019.9:g.13323028G>A	(Likely) benign	1 lab	0156d161a4
9:463555 DOCK8 C>T	9	463555	463555	C	T	DOCK8	c.6107C>T	NM_203447.4	NP_982272.2:p.(Thr2036Met)	NC_000009.11:g.463555C>T	VUS	1 lab	01573a2adc
17:7750568 KDM6B C>T	17	7750568	7750568	C	T	KDM6B	c.1055C>T	NM_001348716.2	NP_001335645.1:p.(Ala352Val)	NC_000017.10:g.7750568C>T	VUS	1 lab	01575db4b4
2:179438557 TTN G>A	2	179438557	179438557	G	A	TTN	c.72302C>T	NM_001267550.2	NP_001254479.2:p.(Thr24101Ile)	NC_000002.11:g.179438557G>A	(Likely) benign	1 lab	0157605925
12:92538170 BTG1 G>C	12	92538170	92538170	G	C	BTG1	c.202C>G	NM_001731.3	NP_001722.1:p.(Arg68Gly)	NC_000012.11:g.92538170G>C	VUS	1 lab	015876f677
11:66283006 BBS1 C>T	11	66283006	66283006	C	T	BBS1	c.433-5C>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283006C>T	(Likely) benign	1 lab	0159d81b0b
2:215593532 BARD1 T>C	2	215593532	215593532	T	C	BARD1	c.2202A>G	NM_000465.4	NP_000456.2:p.(Thr734=)	NC_000002.11:g.215593532T>C	(Likely) benign	1 lab	7f88f3d3b3
22:19496066 CDC45 C>T	22	19496066	19496066	C	T	CDC45	c.1069C>T	NM_003504.5	NP_003495.1:p.(Arg357Cys)	NC_000022.10:g.19496066C>T	VUS	1 lab	015d070c45
2:47641558 MSH2 GTAAAA>G	2	47641558	47641563	GTAAAA	G	MSH2	c.942+2_942+6del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641559_47641563del	(Likely) benign	1 lab	7fa5354608
2:48028049 MSH6 G>A	2	48028049	48028049	G	A	MSH6	c.2927G>A	NM_000179.2	NP_000170.1:p.(Arg976His)	NC_000002.11:g.48028049G>A	(Likely) pathogenic	1 lab	7fb95f2166
11:108195977 ATM T>G	11	108195977	108195977	T	G	ATM	c.6573-60T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195977T>G	(Likely) benign	1 lab	7fba6ddb5e
X:140786496 SPANXD C>T	X	140786496	140786496	C	T	SPANXD	c.67G>A	NM_032417.4	NP_115793.1:p.(Glu23Lys)	NC_000023.10:g.140786496C>T	VUS	1 lab	015d5b33ff
13:32932019 BRCA2 G>A	13	32932019	32932019	G	A	BRCA2	c.7758G>A	NM_000059.3	NP_000050.2:p.(Trp2586Ter)	NC_000013.10:g.32932019G>A	(Likely) pathogenic	1 lab	7ff2779e5c
16:70296352 AARS1 T>C	16	70296352	70296352	T	C	AARS1	c.1568A>G	NM_001605.3	NP_001596.2:p.(Gln523Arg)	NC_000016.9:g.70296352T>C	VUS	1 lab	015d6505e3
17:59878680 BRIP1 T>G	17	59878680	59878680	T	G	BRIP1	c.1074A>C	NM_032043.2	NP_114432.2:p.(Leu358=)	NC_000017.10:g.59878680T>G	(Likely) benign	1 lab	7ffe54c38c
11:108164198 ATM C>T	11	108164198	108164198	C	T	ATM	c.4770C>T	NM_000051.3	NP_000042.3:p.(Leu1590=)	NC_000011.9:g.108164198C>T	(Likely) benign	1 lab	800915883d
13:32954038 BRCA2 T>G	13	32954038	32954038	T	G	BRCA2	c.9105T>G	NM_000059.4	NP_000050.3:p.(Tyr3035Ter)	NC_000013.10:g.32954038T>G	(Likely) pathogenic	1 lab	801614bf70
3:37058918 MLH1 A>G	3	37058918	37058918	A	G	MLH1	c.791-79A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37058918A>G	(Likely) benign	1 lab	801fc3d9f4
11:86126337 CCDC81 T>G	11	86126337	86126337	T	G	CCDC81	c.1673T>G	NM_001156474.2	NP_001149946.1:p.(Leu558Arg)	NC_000011.9:g.86126337T>G	(Likely) benign	1 lab	015dffcd6e
5:175530310 FAM153B A>C	5	175530310	175530310	A	C	FAM153B	n.1270+10A>C	NR_169299.1		NC_000005.9:g.175530310A>C	(Likely) benign	1 lab	0f12cb985d
9:21971159 CDKN2A C>T	9	21971159	21971159	C	T	CDKN2A	c.199G>A	NM_000077.4	NP_000068.1:p.(Gly67Ser)	NC_000009.11:g.21971159C>T	(Likely) pathogenic	1 lab	80891ae17d
8:42706128 RNF170 TCTC>T	8	42706128	42706131	TCTC	T	RNF170	c.406_408del	NM_001160224.1	NP_001153696.1:p.(Glu136del)	NC_000008.10:g.42706129_42706131del	(Likely) benign	1 lab	0f3c0ab8a3
12:49434352 KMT2D G>A	12	49434352	49434352	G	A	KMT2D	c.7201C>T	NM_003482.4	NP_003473.3:p.(Arg2401Cys)	NC_000012.11:g.49434352G>A	(Likely) benign	1 lab	015e621a33
X:130415280 IGSF1 C>T	X	130415280	130415280	C	T	IGSF1	c.1558G>A	NM_001555.5	NP_001546.2:p.(Ala520Thr)	NC_000023.10:g.130415280C>T	(Likely) benign	1 lab	015e71d4f8
7:6037056 PMS2 TGA>T	7	6037056	6037058	TGA	T	PMS2	c.706-4_706-3del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037057_6037058del	(Likely) benign	1 lab	811d481185
17:41234564 BRCA1 A>G	17	41234564	41234564	A	G	BRCA1	c.4214T>C	NM_007294.3	NP_009225.1:p.(Ile1405Thr)	NC_000017.10:g.41234564A>G	(Likely) benign	1 lab	81430ecc0b
13:32912345 BRCA2 G>GA	13	32912345	32912352	G	GA	BRCA2	c.3860dup	NM_000059.3	NP_000050.2:p.(Asn1287LysfsTer2)	NC_000013.10:g.32912352dup	(Likely) pathogenic	1 lab	8185c9271c
17:41277265 BRCA1 T>A	17	41277265	41277265	T	A	BRCA1	c.-20+23A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277265T>A	VUS	1 lab	8186d97f1f
9:135277472 TTF1 G>A	9	135277472	135277472	G	A	TTF1	c.737C>T	NM_007344.4	NP_031370.2:p.(Ala246Val)	NC_000009.11:g.135277472G>A	(Likely) benign	1 lab	01609b2cec
11:6651467 DCHS1 C>A	11	6651467	6651467	C	A	DCHS1	c.4558G>T	NM_003737.4	NP_003728.1:p.(Ala1520Ser)	NC_000011.9:g.6651467C>A	(Likely) benign	1 lab	0161f5be36
22:29085183 CHEK2 C>G	22	29085183	29085183	C	G	CHEK2	c.1482G>C	NM_007194.4	NP_009125.1:p.(Lys494Asn)	NC_000022.10:g.29085183C>G	(Likely) benign	1 lab	81d3419357
15:23932040 NDN C>A	15	23932040	23932040	C	A	NDN	c.325G>T	NM_002487.3	NP_002478.1:p.(Val109Leu)	NC_000015.9:g.23932040C>A	(Likely) benign	1 lab	01626a6375
22:35799534 MCM5 A>T	22	35799534	35799534	A	T	MCM5	c.422A>T	NM_006739.4	NP_006730.2:p.(Lys141Met)	NC_000022.10:g.35799534A>T	VUS	1 lab	016395b413
7:120387892 KCND2 G>T	7	120387892	120387892	G	T	KCND2	c.1873G>T	NM_012281.3	NP_036413.1:p.(Val625Phe)	NC_000007.13:g.120387892G>T	(Likely) benign	1 lab	0163c1f6d4
13:32914763 BRCA2 A>C	13	32914763	32914763	A	C	BRCA2	c.6271A>C	NM_000059.3	NP_000050.2:p.(Ser2091Arg)	NC_000013.10:g.32914763A>C	(Likely) benign	1 lab	823426076e
17:3550740 CTNS T>A	17	3550740	3550740	T	A	CTNS	c.64T>A	NM_004937.3	NP_004928.2:p.(Ser22Thr)	NC_000017.10:g.3550740T>A	(Likely) benign	1 lab	0164a3c552
1:39846039 MACF1 G>T	1	39846039	39846039	G	T	MACF1	c.13642G>T	NM_001394062.1	NP_001380991.1:p.(Glu4548Ter)	NC_000001.10:g.39846039G>T	VUS	1 lab	0165d9bab9
8:145024703 PLEC G>A	8	145024703	145024703	G	A	PLEC	c.194-11843C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024703G>A	VUS	1 lab	10b543fde9
17:41244040 BRCA1 T>C	17	41244040	41244040	T	C	BRCA1	c.3508A>G	NM_007294.3	NP_009225.1:p.(Ile1170Val)	NC_000017.10:g.41244040T>C	(Likely) benign	1 lab	82b2724502
X:148564314 IDS G>A	X	148564314	148564314	G	A	IDS	c.1616C>T	NM_000202.8	NP_000193.1:p.(Ser539Phe)	NC_000023.10:g.148564314G>A	VUS	1 lab	0168cbfad7
7:19156977 TWIST1 C>G	7	19156977	19156977	C	G	TWIST1	c.-33G>C	NM_000474.4	NP_000465.1:p.?	NC_000007.13:g.19156977C>G	VUS	1 lab	016ac11048
16:23614685 PALB2 A>C	16	23614685	23614685	A	C	PALB2	c.*95T>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23614685A>C	(Likely) benign	1 lab	839f5e6461
13:32906562 BRCA2 G>A	13	32906562	32906562	G	A	BRCA2	c.947G>A	NM_000059.3	NP_000050.2:p.(Arg316Lys)	NC_000013.10:g.32906562G>A	(Likely) benign	1 lab	83c2a7c397
16:16251549 ABCC6 C>T	16	16251549	16251549	C	T	ABCC6	c.3853G>A	NM_001171.6	NP_001162.5:p.(Val1285Met)	NC_000016.9:g.16251549C>T	(Likely) benign	1 lab	016b73a3fb
1:115272959 CSDE1 G>A	1	115272959	115272959	G	A	CSDE1	c.1276C>T	NM_001007553.3	NP_001007554.1:p.(His426Tyr)	NC_000001.10:g.115272959G>A	(Likely) benign	1 lab	016bb69c21
5:175110846 HRH2 C>G	5	175110846	175110846	C	G	HRH2	c.610C>G	NM_001367711.1	NP_001354640.1:p.(Arg204Gly)	NC_000005.9:g.175110846C>G	VUS	1 lab	016c6d7ac9
6:99893698 USP45 C>A	6	99893698	99893698	C	A	USP45	c.1950G>T	NM_001346022.3	NP_001332951.1:p.(Lys650Asn)	NC_000006.11:g.99893698C>A	VUS	1 lab	016c9da0b3
7:6043347 PMS2 TTC>T	7	6043347	6043349	TTC	T	PMS2	c.325_326del	NM_000535.7	NP_000526.2:p.(Glu109SerfsTer29)	NC_000007.13:g.6043348_6043349del	(Likely) pathogenic	1 lab	8478ed4c09
11:108128217 ATM C>A	11	108128217	108128217	C	A	ATM	c.2260C>A	NM_000051.3	NP_000042.3:p.(Gln754Lys)	NC_000011.9:g.108128217C>A	(Likely) benign	1 lab	8481a80c78
2:47698296 MSH2 G>T	2	47698296	47698296	G	T	MSH2	c.1759+95G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698296G>T	(Likely) benign	1 lab	84af288d96
17:56798279 RAD51C G>A	17	56798279	56798279	G	A	RAD51C	c.904+106G>A	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56798279G>A	(Likely) benign	1 lab	84f4cf5c43
13:32900363 BRCA2 CTT>C	13	32900363	32900370	CTT	C	BRCA2	c.476-10_476-9del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900369_32900370del	(Likely) benign	1 lab	84fa5c9168
11:5068000 OR52J3 G>T	11	5068000	5068000	G	T	OR52J3	c.245G>T	NM_001001916.2	NP_001001916.2:p.(Arg82Leu)	NC_000011.9:g.5068000G>T	VUS	1 lab	016ce6c22b
11:108098461 ATM A>C	11	108098461	108098461	A	C	ATM	c.72+38A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098461A>C	(Likely) benign	1 lab	8524de7cc3
19:11130371 SMARCA4 C>T	19	11130371	11130371	C	T	SMARCA4				NC_000019.9:g.11130371C>T	(Likely) benign	1 lab	85270816e1
13:32915300 BRCA2 GGA>G	13	32915300	32915302	GGA	G	BRCA2	c.6809_6810del	NM_000059.4	NP_000050.3:p.(Gly2270GlufsTer22)	NC_000013.10:g.32915301_32915302del	(Likely) pathogenic	1 lab	8540b4d8f5
17:59871106 BRIP1 A>G	17	59871106	59871106	A	G	BRIP1	c.1341-16T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59871106A>G	VUS	1 lab	8550be0420
12:133249493 POLE G>A	12	133249493	133249493	G	A	POLE	c.1474-68C>T	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133249493G>A	(Likely) benign	1 lab	85646ec9c1
X:34149657 FAM47A TATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG>T	X	34149657	34149711	TATGGGACACTCCAGTCTCTGGAGGCTCCGGGCGGAG	T	FAM47A	c.703_738del	NM_203408.4	NP_981953.2:p.(Leu235_His246del)	NC_000023.10:g.34149676_34149711del	(Likely) benign	1 lab	016dc006b0
13:32906518 BRCA2 T>C	13	32906518	32906518	T	C	BRCA2	c.903T>C	NM_000059.3	NP_000050.2:p.(Asp301=)	NC_000013.10:g.32906518T>C	(Likely) benign	1 lab	86399db89c
2:48032878 MSH6 T>G	2	48032878	48032878	T	G	MSH6	c.3646+32T>G	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032878T>G	(Likely) benign	1 lab	865564e199
22:38374021 SOX10 C>T	22	38374021	38374021	C	T	SOX10	c.550G>A	NM_006941.4	NP_008872.1:p.(Ala184Thr)	NC_000022.10:g.38374021C>T	(Likely) benign	1 lab	017058f857
1:240256362 FMN2 C>T	1	240256362	240256362	C	T	FMN2	c.953C>T	NM_020066.5	NP_064450.3:p.(Pro318Leu)	NC_000001.10:g.240256362C>T	(Likely) benign	1 lab	0171d5f31a
17:41277187 BRCA1 G>C	17	41277187	41277187	G	C	BRCA1	c.-20+101C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277187G>C	(Likely) benign	1 lab	86a5c1608f
9:139733365 RABL6 G>C	9	139733365	139733365	G	C	RABL6	c.1285G>C	NM_024718.5	NP_078994.3:p.(Gly429Arg)	NC_000009.11:g.139733365G>C	(Likely) benign	1 lab	0173a1f918
13:32911668 BRCA2 T>G	13	32911668	32911668	T	G	BRCA2	c.3176T>G	NM_000059.3	NP_000050.2:p.(Leu1059Arg)	NC_000013.10:g.32911668T>G	(Likely) benign	1 lab	86ca9eff3b
9:140648752 EHMT1 C>T	9	140648752	140648752	C	T	EHMT1	c.1369+9C>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140648752C>T	(Likely) benign	1 lab	0174a1ae5a
11:14490404 COPB1 T>C	11	14490404	14490404	T	C	COPB1	c.1968A>G	NM_001144061.2	NP_001137533.1:p.(Lys656=)	NC_000011.9:g.14490404T>C	VUS	1 lab	0174b51bdd
5:1258667 TERT G>A	5	1258667	1258667	G	A	TERT	c.3032+46C>T	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1258667G>A	(Likely) benign	1 lab	86e76a2b3d
19:50902692 POLD1 C>CATT	19	50902692	50902693	C	CATT	POLD1	c.267_268insATT	NM_002691.4	NP_002682.2:p.(Pro89_Gln90insIle)	NC_000019.9:g.50902692_50902693insATT	VUS	1 lab	0174dcb4e5
9:114245810 ECPAS G>A	9	114245810	114245810	G	A	ECPAS	c.-83+586C>T	NM_001364929.1	NP_001351858.1:p.?	NC_000009.11:g.114245810G>A	VUS	1 lab	0175539dc3
10:89711980 MISSING T>G	10	89711980	89711980	T	G	MISSING				NC_000010.10:g.89711980T>G	VUS	1 lab	6f6407de15
13:111156196 COL4A2 G>A	13	111156196	111156196	G	A	COL4A2	c.4141G>A	NM_001846.4	NP_001837.2:p.(Ala1381Thr)	NC_000013.10:g.111156196G>A	(Likely) benign	1 lab	017840422e
17:48072118 DLX3 G>A	17	48072118	48072118	G	A	DLX3	c.245C>T	NM_005220.3	NP_005211.1:p.(Pro82Leu)	NC_000017.10:g.48072118G>A	VUS	1 lab	01ad335376
11:2161488 IGF2 G>C	11	2161488	2161488	G	C	IGF2	c.-6-4729C>G	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2161488G>C	(Likely) benign	1 lab	111b2b054e
11:108153497 ATM CATTTAGATTATCTGG>C	11	108153497	108153512	CATTTAGATTATCTGG	C	ATM	c.3638_3652del	NM_000051.4	NP_000042.3:p.(His1213_Val1218delinsLeu)	NC_000011.9:g.108153498_108153512del	(Likely) pathogenic	1 lab	87b42602ee
11:108151786 ATM C>T	11	108151786	108151786	C	T	ATM	c.3467C>T	NM_000051.3	NP_000042.3:p.(Thr1156Met)	NC_000011.9:g.108151786C>T	(Likely) benign	1 lab	87ed2658bf
13:32913032 BRCA2 G>GA	13	32913032	32913036	G	GA	BRCA2	c.4544dup	NM_000059.4	NP_000050.3:p.(Ile1516AspfsTer13)	NC_000013.10:g.32913036dup	(Likely) pathogenic	1 lab	87fb27ed6e
19:14578752 PKN1 A>G	19	14578752	14578752	A	G	PKN1	c.1949A>G	NM_002741.5	NP_002732.3:p.(Asp650Gly)	NC_000019.9:g.14578752A>G	VUS	1 lab	017a659f57
19:36557265 WDR62 A>G	19	36557265	36557265	A	G	WDR62	c.497A>G	NM_001083961.2	NP_001077430.1:p.(Asn166Ser)	NC_000019.9:g.36557265A>G	VUS	1 lab	017b9ea142
13:32912944 BRCA2 CATAGT>C	13	32912944	32912949	CATAGT	C	BRCA2	c.4453_4457del	NM_000059.4	NP_000050.3:p.(Ile1485Ter)	NC_000013.10:g.32912945_32912949del	(Likely) pathogenic	1 lab	884f6d3396
13:48954172 RB1 T>A	13	48954172	48954172	T	A	RB1	c.1390-17T>A	NM_000321.2	NP_000312.2:p.?	NC_000013.10:g.48954172T>A	(Likely) benign	1 lab	885695a598
17:41256830 BRCA1 C>T	17	41256830	41256830	C	T	BRCA1	c.301+55G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256830C>T	(Likely) benign	1 lab	8893fff825
7:124465509 POT1 A>C	7	124465509	124465509	A	C	POT1	c.1687-98T>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124465509A>C	(Likely) benign	1 lab	889728fd14
2:48032717 MSH6 T>A	2	48032717	48032717	T	A	MSH6	c.3557-40T>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032717T>A	(Likely) benign	1 lab	88e185afbe
20:33589868 MYH7B C>T	20	33589868	33589868	C	T	MYH7B	c.5794C>T	NM_020884.7	NP_065935.4:p.(Arg1932Trp)	NC_000020.10:g.33589868C>T	VUS	1 lab	0185ece554
9:98643520 ERCC6L2 TC>T	9	98643520	98643522	TC	T	ERCC6L2	c.418del	NM_020207.7	NP_064592.3:p.(His140MetfsTer45)	NC_000009.11:g.98643522del	(Likely) pathogenic	1 lab	017ba86695
13:32911524 BRCA2 C>T	13	32911524	32911524	C	T	BRCA2	c.3032C>T	NM_000059.3	NP_000050.2:p.(Thr1011Ile)	NC_000013.10:g.32911524C>T	VUS	1 lab	89052cf240
16:597208 CAPN15 GAGGACA>G	16	597208	597219	GAGGACA	G	CAPN15	c.376_381del	NM_005632.3	NP_005623.1:p.(Lys126_Asp127del)	NC_000016.9:g.597214_597219del	VUS	1 lab	017be6b46d
3:37053590 MLH1 G>T	3	37053590	37053590	G	T	MLH1	c.677G>T	NM_000249.3	NP_000240.1:p.(Arg226Leu)	NC_000003.11:g.37053590G>T	(Likely) pathogenic	1 lab	8947f09804
13:32893212 BRCA2 A>G	13	32893212	32893212	A	G	BRCA2	c.68-2A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893212A>G	(Likely) pathogenic	1 lab	896255e0a0
6:43307370 ZNF318 G>C	6	43307370	43307370	G	C	ZNF318	c.4366C>G	NM_014345.3	NP_055160.2:p.(Pro1456Ala)	NC_000006.11:g.43307370G>C	(Likely) benign	1 lab	017d21d619
9:93978356 AUH T>C	9	93978356	93978356	T	C	AUH	c.927A>G	NM_001698.3	NP_001689.1:p.(Glu309=)	NC_000009.11:g.93978356T>C	(Likely) benign	1 lab	017d4b3be5
7:54823579 SEC61G A>G	7	54823579	54823579	A	G	SEC61G	c.95-5T>C	NM_014302.4	NP_055117.1:p.?	NC_000007.13:g.54823579A>G	VUS	1 lab	017e1cb955
13:32913172 BRCA2 C>T	13	32913172	32913172	C	T	BRCA2	c.4680C>T	NM_000059.3	NP_000050.2:p.(Ser1560=)	NC_000013.10:g.32913172C>T	(Likely) benign	1 lab	89dbb0d898
2:48026397 MSH6 C>A	2	48026397	48026397	C	A	MSH6	c.1275C>A	NM_000179.3	NP_000170.1:p.(Ile425=)	NC_000002.11:g.48026397C>A	(Likely) benign	1 lab	017eb75e0d
14:104578315 ASPG T>A	14	104578315	104578315	T	A	ASPG	c.1679T>A	NM_001080464.3	NP_001073933.2:p.(Val560Asp)	NC_000014.8:g.104578315T>A	(Likely) benign	1 lab	017fe1f38b
3:37083757 MLH1 A>T	3	37083757	37083757	A	T	MLH1	c.1668-2A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37083757A>T	(Likely) pathogenic	1 lab	8a2e0e8ba3
17:59761414 BRIP1 T>C	17	59761414	59761414	T	C	BRIP1	c.2993A>G	NM_032043.2	NP_114432.2:p.(Lys998Arg)	NC_000017.10:g.59761414T>C	(Likely) benign	1 lab	8a56d8ae1a
16:12492347 SNX29 G>A	16	12492347	12492347	G	A	SNX29	c.1944G>A	NM_032167.5	NP_115543.3:p.(Ser648=)	NC_000016.9:g.12492347G>A	(Likely) benign	1 lab	01806a42b7
16:3640515 SLX4 C>G	16	3640515	3640515	C	G	SLX4	c.3124G>C	NM_032444.4	NP_115820.2:p.(Gly1042Arg)	NC_000016.9:g.3640515C>G	(Likely) benign	1 lab	0180f2e1c4
2:47635552 MSH2 TGCA>T	2	47635552	47635556	TGCA	T	MSH2	c.226_228del	NM_000251.3	NP_000242.1:p.(Gln76del)	NC_000002.11:g.47635554_47635556del	(Likely) pathogenic	1 lab	8ad083c51d
2:220353551 SPEG C>A	2	220353551	220353551	C	A	SPEG	c.8078C>A	NM_005876.5	NP_005867.3:p.(Thr2693Lys)	NC_000002.11:g.220353551C>A	VUS	1 lab	0180f939c1
4:23815650 PPARGC1A C>T	4	23815650	23815650	C	T	PPARGC1A	c.1456G>A	NM_013261.5	NP_037393.1:p.(Asp486Asn)	NC_000004.11:g.23815650C>T	(Likely) benign	1 lab	018171baf2
X:107084298 MID2 G>A	X	107084298	107084298	G	A	MID2	c.403G>A	NM_012216.4	NP_036348.2:p.(Glu135Lys)	NC_000023.10:g.107084298G>A	VUS	1 lab	0181b45497
16:68712184 CDH3 C>G	16	68712184	68712184	C	G	CDH3	c.390+4C>G	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68712184C>G	(Likely) benign	1 lab	0183d82b43
14:68249744 ZFYVE26 C>T	14	68249744	68249744	C	T	ZFYVE26	c.4125G>A	NM_015346.4	NP_056161.2:p.(Glu1375=)	NC_000014.8:g.68249744C>T	(Likely) benign	1 lab	018441c292
14:75506461 MLH3 GAAC>G	14	75506461	75506465	GAAC	G	MLH3	c.3570+150_3570+152del	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506463_75506465del	(Likely) benign	1 lab	8ba83bdfd0
17:41243993 BRCA1 C>A	17	41243993	41243993	C	A	BRCA1	c.3555G>T	NM_007294.3	NP_009225.1:p.(Glu1185Asp)	NC_000017.10:g.41243993C>A	(Likely) benign	1 lab	8bd31d381d
21:31802631 KRTAP13-4 G>A	21	31802631	31802631	G	A	KRTAP13-4	c.38G>A	NM_181600.3	NP_853631.1:p.(Arg13His)	NC_000021.8:g.31802631G>A	(Likely) benign	1 lab	0184ce7210
19:38966016 RYR1 C>G	19	38966016	38966016	C	G	RYR1	c.4219C>G	NM_000540.3	NP_000531.2:p.(Leu1407Val)	NC_000019.9:g.38966016C>G	(Likely) benign	1 lab	01856e2098
7:6018304 PMS2 GCAGTTA>G	7	6018304	6018310	GCAGTTA	G	PMS2	c.2192_2197del	NM_000535.7	NP_000526.2:p.(Leu731_Ala733delinsSer)	NC_000007.13:g.6018305_6018310del	(Likely) pathogenic	1 lab	8bf8afbff6
12:52308164 ACVRL1 G>T	12	52308164	52308164	G	T	ACVRL1	c.626-59G>T	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52308164G>T	(Likely) benign	1 lab	8c0c866e04
17:41226387 BRCA1 C>A	17	41226387	41226387	C	A	BRCA1	c.4636G>T	NM_007294.3	NP_009225.1:p.(Asp1546Tyr)	NC_000017.10:g.41226387C>A	(Likely) benign	1 lab	8c483355b5
2:215609952 BARD1 A>G	2	215609952	215609952	A	G	BARD1	c.1811-69T>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215609952A>G	(Likely) benign	1 lab	8ca141ac58
3:37061778 MLH1 GTTC>G	3	37061778	37061782	GTTC	G	MLH1	c.885-21_885-19del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37061780_37061782del	(Likely) benign	1 lab	8cd7a2ea5f
11:89405124 FOLH1B C>A	11	89405124	89405124	C	A	FOLH1B	n.806C>A	NR_175944.1		NC_000011.9:g.89405124C>A	VUS	1 lab	f6790e7f38
10:123310859 FGFR2 C>T	10	123310859	123310859	C	T	FGFR2	c.569G>A	NM_000141.5	NP_000132.3:p.(Arg190Gln)	NC_000010.10:g.123310859C>T	VUS	1 lab	01883c9424
12:49441821 KMT2D C>A	12	49441821	49441821	C	A	KMT2D	c.4163G>T	NM_003482.4	NP_003473.3:p.(Arg1388Leu)	NC_000012.11:g.49441821C>A	(Likely) benign	1 lab	0188e3b7d1
11:108122587 ATM T>C	11	108122587	108122587	T	C	ATM	c.1631T>C	NM_000051.3	NP_000042.3:p.(Leu544Ser)	NC_000011.9:g.108122587T>C	VUS	1 lab	8d77b234eb
16:23615042 PALB2 T>TAAA	16	23615042	23615056	T	TAAA	PALB2	c.3351-55_3351-53dup	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23615054_23615056dup	(Likely) benign	1 lab	8d93a0c441
2:219187992 PNKD T>A	2	219187992	219187992	T	A	PNKD	c.237-16514T>A	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219187992T>A	(Likely) benign	1 lab	018937996a
17:41246530 BRCA1 CCT>C	17	41246530	41246532	CCT	C	BRCA1	c.1016_1017del	NM_007294.4	NP_009225.1:p.(Lys339SerfsTer6)	NC_000017.10:g.41246531_41246532del	(Likely) pathogenic	1 lab	8d9b1e13cc
13:32899100 BRCA2 A>G	13	32899100	32899100	A	G	BRCA2	c.317-113A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899100A>G	(Likely) benign	1 lab	8dce9d5634
17:41219659 BRCA1 AATTAG>A	17	41219659	41219669	AATTAG	A	BRCA1	c.5035_5039del	NM_007294.4	NP_009225.1:p.(Leu1679TyrfsTer2)	NC_000017.10:g.41219665_41219669del	(Likely) pathogenic	1 lab	8ddb5c033c
9:19516373 SLC24A2 G>A	9	19516373	19516373	G	A	SLC24A2	c.1764C>T	NM_020344.4	NP_065077.1:p.(Thr588=)	NC_000009.11:g.19516373G>A	VUS	1 lab	0189987d4b
17:59876783 BRIP1 ACAG>A	17	59876783	59876786	ACAG	A	BRIP1	c.1141-126_1141-124del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59876784_59876786del	(Likely) benign	1 lab	8dfce499a5
20:50235570 ATP9A C>T	20	50235570	50235570	C	T	ATP9A	c.2128G>A	NM_006045.3	NP_006036.1:p.(Gly710Arg)	NC_000020.10:g.50235570C>T	VUS	1 lab	018acfd160
17:59876754 BRIP1 C>A	17	59876754	59876754	C	A	BRIP1	c.1141-94G>T	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59876754C>A	VUS	1 lab	8e2601c2e8
X:585038 SHOX G>GC	X	585038	585043	G	GC	SHOX				NC_000023.10:g.585043dup	(Likely) benign	1 lab	e815bac60d
17:41256074 BRCA1 C>CA	17	41256074	41256086	C	CA	BRCA1	c.441+64dup	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256086dup	(Likely) benign	1 lab	8e8018c359
2:47707886 MSH2 C>T	2	47707886	47707886	C	T	MSH2	c.2510C>T	NM_000251.2	NP_000242.1:p.(Pro837Leu)	NC_000002.11:g.47707886C>T	(Likely) pathogenic	1 lab	8ea05551f7
7:6027154 PMS2 GTC>G	7	6027154	6027157	GTC	G	PMS2	c.1240_1241del	NM_000535.7	NP_000526.2:p.(Asp414ArgfsTer43)	NC_000007.13:g.6027156_6027157del	(Likely) pathogenic	1 lab	8ec8547260
21:41516448 DSCAM G>A	21	41516448	41516448	G	A	DSCAM	c.3229C>T	NM_001389.5	NP_001380.2:p.(Gln1077Ter)	NC_000021.8:g.41516448G>A	VUS	1 lab	018c1cee01
X:19433335 MAP3K15 G>A	X	19433335	19433335	G	A	MAP3K15	c.1480C>T	NM_001001671.4	NP_001001671.3:p.(Arg494Cys)	NC_000023.10:g.19433335G>A	(Likely) benign	1 lab	018d572bac
2:119727887 MARCO C>T	2	119727887	119727887	C	T	MARCO	c.397C>T	NM_006770.4	NP_006761.1:p.(Arg133Trp)	NC_000002.11:g.119727887C>T	VUS	1 lab	018da6f869
8:77768488 ZFHX4 G>A	8	77768488	77768488	G	A	ZFHX4	c.9331G>A	NM_024721.5	NP_078997.4:p.(Gly3111Arg)	NC_000008.10:g.77768488G>A	VUS	1 lab	018de594bf
15:23685647 GOLGA6L2 C>T	15	23685647	23685647	C	T	GOLGA6L2	c.1975G>A	NM_001304388.2	NP_001291317.1:p.(Glu659Lys)	NC_000015.9:g.23685647C>T	(Likely) benign	1 lab	018e7b5e32
17:59761338 BRIP1 G>A	17	59761338	59761338	G	A	BRIP1	c.3069C>T	NM_032043.3	NP_114432.2:p.(Leu1023=)	NC_000017.10:g.59761338G>A	(Likely) benign	1 lab	8f35a2cee1
22:51143516 SHANK3 G>A	22	51143516	51143516	G	A	SHANK3	c.2246G>A	NM_001372044.2	NP_001358973.1:p.(Arg749Gln)	NC_000022.10:g.51143516G>A	VUS	1 lab	018f1f49df
11:93517759 MED17 C>G	11	93517759	93517759	C	G	MED17	c.80C>G	NM_004268.5	NP_004259.3:p.(Thr27Ser)	NC_000011.9:g.93517759C>G	VUS	1 lab	07f77978a4
X:49227375 GAGE2C G>A	X	49227375	49227375	G	A	GAGE2C	c.81+1G>A	NM_001472.2	NP_001463.1:p.?	NC_000023.10:g.49227375G>A	VUS	1 lab	1189a0c157
2:47637471 MSH2 C>G	2	47637471	47637471	C	G	MSH2	c.605C>G	NM_000251.2	NP_000242.1:p.(Pro202Arg)	NC_000002.11:g.47637471C>G	(Likely) benign	1 lab	8f75ad159b
7:81799884 CACNA2D1 CTG>GGA	7	81799884	81799886	CTG	GGA	CACNA2D1	c.334_336delinsTCC	NM_000722.4	NP_000713.2:p.(Gln112Ser)	NC_000007.13:g.81799884_81799886delinsGGA	VUS	1 lab	018f28e1e2
3:37067075 MLH1 CTATATA>C	3	37067075	37067100	CTATATA	C	MLH1	c.1039-33_1039-28del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067100del	(Likely) benign	1 lab	8faabf55f3
19:50909651 POLD1 C>G	19	50909651	50909651	C	G	POLD1	c.1384-13C>G	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50909651C>G	(Likely) benign	1 lab	8fe2251eb8
11:108150374 ATM T>C	11	108150374	108150374	T	C	ATM	c.3402+39T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108150374T>C	(Likely) benign	1 lab	9010a06947
11:108198538 ATM A>G	11	108198538	108198538	A	G	ATM	c.7089+53A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198538A>G	(Likely) benign	1 lab	903e7ecaa7
17:7577199 TP53 C>T	17	7577199	7577199	C	T	TP53	c.783-44G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577199C>T	(Likely) benign	1 lab	90958653da
17:42082213 NAGS AG>A	17	42082213	42082215	AG	A	NAGS	c.184del	NM_153006.3	NP_694551.1:p.(Glu62SerfsTer49)	NC_000017.10:g.42082215del	VUS	1 lab	018f76a928
2:47635522 MSH2 ACT>A	2	47635522	47635524	ACT	A	MSH2	c.212-17_212-16del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635523_47635524del	(Likely) benign	1 lab	909d379660
15:99478054 IGF1R G>A	15	99478054	99478054	G	A	IGF1R	c.2958G>A	NM_000875.5	NP_000866.1:p.(Val986=)	NC_000015.9:g.99478054G>A	VUS	1 lab	018fcaeccf
13:32913508 BRCA2 C>A	13	32913508	32913508	C	A	BRCA2	c.5016C>A	NM_000059.4	NP_000050.3:p.(Tyr1672Ter)	NC_000013.10:g.32913508C>A	(Likely) pathogenic	1 lab	90bf411bca
16:81253668 PKD1L2 C>T	16	81253668	81253668	C	T	PKD1L2	c.301+7G>A	NM_001076780.1	NP_001070248.1:p.?	NC_000016.9:g.81253668C>T	(Likely) benign	1 lab	11a641b94f
11:108164245 ATM C>T	11	108164245	108164245	C	T	ATM	c.4776+41C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108164245C>T	(Likely) benign	1 lab	90ee9a9f8a
22:21348460 LZTR1 C>T	22	21348460	21348460	C	T	LZTR1	c.1517C>T	NM_006767.4	NP_006758.2:p.(Pro506Leu)	NC_000022.10:g.21348460C>T	(Likely) benign	1 lab	0190973c08
7:124481245 POT1 G>A	7	124481245	124481245	G	A	POT1	c.1164-13C>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124481245G>A	(Likely) benign	1 lab	910a1ed5d1
7:6029451 PMS2 TGCTGA>T	7	6029451	6029456	TGCTGA	T	PMS2	c.1119_1123del	NM_000535.7	NP_000526.2:p.(Ser373ArgfsTer7)	NC_000007.13:g.6029452_6029456del	(Likely) pathogenic	1 lab	9128cca3c2
19:46318160 RSPH6A G>A	19	46318160	46318160	G	A	RSPH6A	c.275C>T	NM_030785.4	NP_110412.1:p.(Thr92Met)	NC_000019.9:g.46318160G>A	(Likely) benign	1 lab	0196ae74ef
1:92711223 C1orf146 C>A	1	92711223	92711223	C	A	C1orf146	c.535C>A	NM_001012425.2	NP_001012425.1:p.(Pro179Thr)	NC_000001.10:g.92711223C>A	VUS	1 lab	01980ec4b0
12:10999825 PRR4 C>T	12	10999825	10999825	C	T	PRR4	c.242G>A	NM_007244.3	NP_009175.2:p.(Arg81His)	NC_000012.11:g.10999825C>T	(Likely) benign	1 lab	0198378fd0
22:29083935 CHEK2 C>T	22	29083935	29083935	C	T	CHEK2	c.1582G>A	NM_007194.4	NP_009125.1:p.(Glu528Lys)	NC_000022.10:g.29083935C>T	(Likely) benign	1 lab	92758fb296
12:66221758 HMGA2 A>AT	12	66221758	66221767	A	AT	HMGA2	c.112-14dup	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66221767dup	(Likely) benign	1 lab	019909e715
13:32950781 BRCA2 A>G	13	32950781	32950781	A	G	BRCA2	c.8633-26A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950781A>G	(Likely) benign	1 lab	92abf8fb9c
14:20842613 TEP1 C>T	14	20842613	20842613	C	T	TEP1	c.6446G>A	NM_007110.5	NP_009041.2:p.(Ser2149Asn)	NC_000014.8:g.20842613C>T	(Likely) benign	1 lab	019a1dba09
2:220367140 GMPPA G>A	2	220367140	220367140	G	A	GMPPA	c.466G>A	NM_013335.4	NP_037467.2:p.(Val156Ile)	NC_000002.11:g.220367140G>A	(Likely) benign	1 lab	019ae08cfb
X:32613874 DMD C>T	X	32613874	32613874	C	T	DMD	c.1602G>A	NM_004006.3	NP_003997.2:p.(Lys534=)	NC_000023.10:g.32613874C>T	(Likely) pathogenic	1 lab	019b003219
15:99465449 IGF1R G>A	15	99465449	99465449	G	A	IGF1R	c.2274G>A	NM_000875.5	NP_000866.1:p.(Thr758=)	NC_000015.9:g.99465449G>A	(Likely) benign	1 lab	01aca81864
3:37067097 MLH1 ATA>TTT	3	37067097	37067099	ATA	TTT	MLH1	c.1039-31_1039-29delinsTTT	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067097_37067099delinsTTT	(Likely) benign	1 lab	92e3abbd6d
16:3900343 CREBBP A>C	16	3900343	3900343	A	C	CREBBP	c.753T>G	NM_004380.3	NP_004371.2:p.(Thr251=)	NC_000016.9:g.3900343A>C	(Likely) benign	1 lab	019cc94bc5
2:215661710 BARD1 T>C	2	215661710	215661710	T	C	BARD1	c.215+75A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661710T>C	(Likely) benign	1 lab	935df050ce
3:93595933 PROS1 T>G	3	93595933	93595933	T	G	PROS1	c.1747A>C	NM_000313.4	NP_000304.2:p.(Asn583His)	NC_000003.11:g.93595933T>G	(Likely) benign	1 lab	01a0164d24
2:219919996 IHH C>T	2	219919996	219919996	C	T	IHH	c.1169G>A	NM_002181.4	NP_002172.2:p.(Arg390His)	NC_000002.11:g.219919996C>T	VUS	1 lab	01a01d93d1
4:47945293 CNGA1 A>T	4	47945293	47945293	A	T	CNGA1	c.342T>A	NM_001379270.1	NP_001366199.1:p.(Asp114Glu)	NC_000004.11:g.47945293A>T	(Likely) benign	1 lab	01a1d4eb66
X:39998304 BCOR T>G	X	39998304	39998304	T	G	BCOR	c.-41+37956A>C	NM_001123383.1	NP_001116855.1:p.?	NC_000023.10:g.39998304T>G	(Likely) benign	1 lab	12b4c56dac
17:41219922 BRCA1 A>G	17	41219922	41219922	A	G	BRCA1	c.4987-210T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219922A>G	(Likely) benign	1 lab	93c0d099b5
2:215632122 BARD1 CTAT>C	2	215632122	215632126	CTAT	C	BARD1	c.1568+81_1568+83del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632124_215632126del	(Likely) benign	1 lab	93f7bd9b36
13:32918627 BRCA2 T>C	13	32918627	32918627	T	C	BRCA2	c.6842-68T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918627T>C	(Likely) benign	1 lab	93fa83b2e1
13:32914208 BRCA2 AACT>A	13	32914208	32914211	AACT	A	BRCA2	c.5717_5719del	NM_000059.4	NP_000050.3:p.(Asn1906_Ser1907delinsThr)	NC_000013.10:g.32914209_32914211del	(Likely) pathogenic	1 lab	94038ac99a
7:6042175 PMS2 T>A	7	6042175	6042175	T	A	PMS2	c.446A>T	NM_000535.5	NP_000526.1:p.(Tyr149Phe)	NC_000007.13:g.6042175T>A	(Likely) benign	1 lab	94633722de
15:66792640 RPL4 C>T	15	66792640	66792640	C	T	RPL4	c.908G>A	NM_000968.4	NP_000959.2:p.(Arg303Gln)	NC_000015.9:g.66792640C>T	VUS	1 lab	01a245d180
2:215632120 BARD1 G>T	2	215632120	215632120	G	T	BARD1	c.1568+86C>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632120G>T	(Likely) benign	1 lab	94a8444a87
12:52695897 KRT86 G>A	12	52695897	52695897	G	A	KRT86	c.197G>A	NM_001320198.2	NP_001307127.1:p.(Arg66His)	NC_000012.11:g.52695897G>A	VUS	1 lab	01a279ed1f
8:6272350 MCPH1 G>A	8	6272350	6272350	G	A	MCPH1				NC_000008.10:g.6272350G>A	(Likely) pathogenic	1 lab	283c7c7e93
13:32915081 BRCA2 ACTG>A	13	32915081	32915084	ACTG	A	BRCA2	c.6590_6592del	NM_000059.4	NP_000050.3:p.(Thr2197_Glu2198delinsLys)	NC_000013.10:g.32915082_32915084del	VUS	1 lab	94dc8934b7
13:32914568 BRCA2 ACAAGAG>A	13	32914568	32914574	ACAAGAG	A	BRCA2	c.6077_6082del	NM_000059.4	NP_000050.3:p.(Thr2026_Glu2028delinsLys)	NC_000013.10:g.32914569_32914574del	(Likely) pathogenic	1 lab	94ee307c2f
4:104074204 CENPE C>T	4	104074204	104074204	C	T	CENPE	c.3237G>A	NM_001813.3	NP_001804.2:p.(Met1079Ile)	NC_000004.11:g.104074204C>T	VUS	1 lab	01a3b94a5d
13:49047564 RB1 T>C	13	49047564	49047564	T	C	RB1	c.2520+38T>C	NM_000321.2	NP_000312.2:p.?	NC_000013.10:g.49047564T>C	(Likely) benign	1 lab	95021263dc
17:41226295 BRCA1 G>T	17	41226295	41226295	G	T	BRCA1	c.4675+53C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226295G>T	(Likely) benign	1 lab	9540464b25
2:26951075 KCNK3 G>C	2	26951075	26951075	G	C	KCNK3	c.824G>C	NM_002246.3	NP_002237.1:p.(Gly275Ala)	NC_000002.11:g.26951075G>C	(Likely) benign	1 lab	01a5062dd0
2:48028273 MSH6 G>A	2	48028273	48028273	G	A	MSH6	c.3151G>A	NM_000179.2	NP_000170.1:p.(Val1051Ile)	NC_000002.11:g.48028273G>A	(Likely) benign	1 lab	95b63a89d6
16:67691645 ACD G>T	16	67691645	67691645	G	T	ACD	c.1298+20C>A	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67691645G>T	(Likely) benign	1 lab	95cb15cd40
7:6043797 PMS2 C>G	7	6043797	6043797	C	G	PMS2	c.164-108G>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6043797C>G	(Likely) benign	1 lab	95fd6454ab
2:215645906 BARD1 G>A	2	215645906	215645906	G	A	BARD1	c.692C>T	NM_000465.4	NP_000456.2:p.(Ser231Phe)	NC_000002.11:g.215645906G>A	(Likely) benign	1 lab	9633733019
13:32913060 BRCA2 G>T	13	32913060	32913060	G	T	BRCA2	c.4568G>T	NM_000059.3	NP_000050.2:p.(Gly1523Val)	NC_000013.10:g.32913060G>T	VUS	1 lab	965985885e
16:3781910 CREBBP T>C	16	3781910	3781910	T	C	CREBBP	c.4757A>G	NM_004380.3	NP_004371.2:p.(Lys1586Arg)	NC_000016.9:g.3781910T>C	VUS	1 lab	01a56d2f63
13:32910714 BRCA2 T>G	13	32910714	32910714	T	G	BRCA2	c.2222T>G	NM_000059.3	NP_000050.2:p.(Val741Gly)	NC_000013.10:g.32910714T>G	(Likely) benign	1 lab	96da6fe30b
13:32912677 BRCA2 TCA>T	13	32912677	32912679	TCA	T	BRCA2	c.4186_4187del	NM_000059.4	NP_000050.3:p.(Gln1396ArgfsTer6)	NC_000013.10:g.32912678_32912679del	(Likely) pathogenic	1 lab	96e0cc7b46
17:41256073 BRCA1 TCA>T	17	41256073	41256075	TCA	T	BRCA1	c.441+64_441+65del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256074_41256075del	(Likely) benign	1 lab	96e4e209f6
11:108151647 ATM T>A	11	108151647	108151647	T	A	ATM	c.3403-75T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108151647T>A	(Likely) benign	1 lab	970a7b5029
17:59878522 BRIP1 C>CA	17	59878522	59878530	C	CA	BRIP1	c.1140+91dup	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59878530dup	(Likely) benign	1 lab	9780904670
13:32913044 BRCA2 G>T	13	32913044	32913044	G	T	BRCA2	c.4552G>T	NM_000059.3	NP_000050.2:p.(Glu1518Ter)	NC_000013.10:g.32913044G>T	(Likely) pathogenic	1 lab	9783302ae2
3:124732426 HEG1 G>A	3	124732426	124732426	G	A	HEG1	c.1997C>T	NM_020733.2	NP_065784.1:p.(Ser666Phe)	NC_000003.11:g.124732426G>A	(Likely) benign	1 lab	01a5e652ad
13:32903603 BRCA2 ACTG>A	13	32903603	32903606	ACTG	A	BRCA2	c.656_658del	NM_000059.4	NP_000050.3:p.(Thr219_Val220delinsIle)	NC_000013.10:g.32903604_32903606del	(Likely) pathogenic	1 lab	97c4a60e30
19:34887331 GPI C>G	19	34887331	34887331	C	G	GPI	c.1188C>G	NM_000175.5	NP_000166.2:p.(His396Gln)	NC_000019.9:g.34887331C>G	VUS	1 lab	01a731ecf9
5:81599305 ATP6AP1L G>A	5	81599305	81599305	G	A	ATP6AP1L	n.1131-1G>A	NR_169868.1		NC_000005.9:g.81599305G>A	VUS	1 lab	1377facd24
3:37067097 MLH1 A>T	3	37067097	37067097	A	T	MLH1	c.1039-31A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067097A>T	(Likely) benign	1 lab	9811974ec7
17:56770152 RAD51C A>G	17	56770152	56770152	A	G	RAD51C	c.145+3A>G	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56770152A>G	VUS	1 lab	9857ccd35e
11:103025296 DYNC2H1 G>T	11	103025296	103025296	G	T	DYNC2H1	c.3419G>T	NM_001377.3	NP_001368.2:p.(Gly1140Val)	NC_000011.9:g.103025296G>T	(Likely) benign	1 lab	01a9c11cc0
13:32890585 BRCA2 A>G	13	32890585	32890585	A	G	BRCA2	c.-13A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890585A>G	VUS	1 lab	98c0692057
13:32912846 BRCA2 C>T	13	32912846	32912846	C	T	BRCA2	c.4354C>T	NM_000059.4	NP_000050.3:p.(Gln1452Ter)	NC_000013.10:g.32912846C>T	(Likely) pathogenic	1 lab	98c7a7d63b
3:37067075 MLH1 CTATATATA>C	3	37067075	37067100	CTATATATA	C	MLH1	c.1039-35_1039-28del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067093_37067100del	(Likely) benign	1 lab	98ea8a4b7c
12:7362622 PEX5 G>A	12	7362622	7362622	G	A	PEX5	c.1723G>A	NM_001351132.2	NP_001338061.1:p.(Ala575Thr)	NC_000012.11:g.7362622G>A	VUS	1 lab	01aa520125
5:94936775 ARSK G>C	5	94936775	94936775	G	C	ARSK	c.1321G>C	NM_198150.3	NP_937793.1:p.(Asp441His)	NC_000005.9:g.94936775G>C	VUS	1 lab	01ab7130a8
15:99192839 IGF1R C>G	15	99192839	99192839	C	G	IGF1R	c.29C>G	NM_000875.5	NP_000866.1:p.(Pro10Arg)	NC_000015.9:g.99192839C>G	(Likely) benign	1 lab	01ae5927ff
2:48010610 MSH6 G>A	2	48010610	48010610	G	A	MSH6	c.238G>A	NM_000179.2	NP_000170.1:p.(Val80Ile)	NC_000002.11:g.48010610G>A	(Likely) benign	1 lab	99413f3039
13:32906897 BRCA2 CT>C	13	32906897	32906898	CT	C	BRCA2	c.1283del	NM_000059.4	NP_000050.3:p.(Leu428HisfsTer2)	NC_000013.10:g.32906898del	(Likely) pathogenic	1 lab	994fe48953
16:2158592 PKD1 G>A	16	2158592	2158592	G	A	PKD1	c.6576C>T	NM_001009944.3	NP_001009944.3:p.(Thr2192=)	NC_000016.9:g.2158592G>A	(Likely) benign	1 lab	01aee86a38
19:625206 POLRMT C>T	19	625206	625206	C	T	POLRMT	c.871G>A	NM_005035.4	NP_005026.3:p.(Gly291Ser)	NC_000019.9:g.625206C>T	VUS	1 lab	083aae8e79
13:32907533 BRCA2 GTCT>G	13	32907533	32907537	GTCT	G	BRCA2	c.1909+11_1909+13del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32907535_32907537del	(Likely) benign	1 lab	99f6985a29
17:59821974 BRIP1 A>G	17	59821974	59821974	A	G	BRIP1	c.2098-22T>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59821974A>G	(Likely) benign	1 lab	9a03ceef4c
17:41244055 BRCA1 AACTAGTATCTTC>A	17	41244055	41244067	AACTAGTATCTTC	A	BRCA1	c.3481_3492del	NM_007294.4	NP_009225.1:p.(Glu1161_Ser1164del)	NC_000017.10:g.41244056_41244067del	(Likely) pathogenic	1 lab	9a29fceaf1
17:41258504 BRCA1 ACT>A	17	41258504	41258506	ACT	A	BRCA1	c.179_180del	NM_007294.4	NP_009225.1:p.(Gln60LeufsTer5)	NC_000017.10:g.41258505_41258506del	(Likely) pathogenic	1 lab	9a6cdc353f
14:103569064 EXOC3L4 A>G	14	103569064	103569064	A	G	EXOC3L4	c.1004A>G	NM_001077594.2	NP_001071062.1:p.(Glu335Gly)	NC_000014.8:g.103569064A>G	VUS	1 lab	01b0ad22c9
2:47702451 MSH2 G>GT	2	47702451	47702470	G	GT	MSH2	c.2005+61dup	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702470dup	(Likely) benign	1 lab	9a988180b5
13:32972939 BRCA2 G>A	13	32972939	32972939	G	A	BRCA2	c.*32G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972939G>A	(Likely) benign	1 lab	9b2cc9dad2
2:47630492 MSH2 CCG>C	2	47630492	47630494	CCG	C	MSH2	c.163_164del	NM_000251.3	NP_000242.1:p.(Arg55GlyfsTer26)	NC_000002.11:g.47630493_47630494del	(Likely) pathogenic	1 lab	9b2fddea21
17:41267805 BRCA1 G>A	17	41267805	41267805	G	A	BRCA1	c.81-9C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267805G>A	(Likely) benign	1 lab	9b63263d14
16:2138372 TSC2 G>GC	16	2138372	2138373	G	GC	TSC2	c.5259+47dup	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138373dup	(Likely) benign	1 lab	9b7c75a9fb
17:7579256 TP53 G>A	17	7579256	7579256	G	A	TP53	c.375+56C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579256G>A	(Likely) benign	1 lab	9bc5992514
16:23625224 PALB2 T>C	16	23625224	23625224	T	C	PALB2	c.3201+101A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23625224T>C	(Likely) benign	1 lab	9bd40712f6
2:47656972 MSH2 C>T	2	47656972	47656972	C	T	MSH2	c.1168C>T	NM_000251.2	NP_000242.1:p.(Leu390Phe)	NC_000002.11:g.47656972C>T	(Likely) benign	1 lab	9bd9455702
11:108121591 ATM GACA>G	11	108121591	108121595	GACA	G	ATM	c.1401_1403del	NM_000051.4	NP_000042.3:p.(Asp467_Lys468delinsGlu)	NC_000011.9:g.108121593_108121595del	(Likely) pathogenic	1 lab	9c3096cfa5
11:108217867 ATM T>C	11	108217867	108217867	T	C	ATM	c.8585-139T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108217867T>C	(Likely) benign	1 lab	9c438f6e74
17:33446614 RAD51D C>G	17	33446614	33446614	C	G	RAD51D	c.19G>C	NM_002878.3	NP_002869.3:p.(Gly7Arg)	NC_000017.10:g.33446614C>G	(Likely) benign	1 lab	9c7552ced9
2:47612423 EPCAM ACTG>A	2	47612423	47612426	ACTG	A	EPCAM	c.903+75_903+77del	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47612424_47612426del	(Likely) benign	1 lab	9ce592a9ff
1:222696035 HHIPL2 G>A	1	222696035	222696035	G	A	HHIPL2	c.2083C>T	NM_024746.4	NP_079022.2:p.(Arg695Cys)	NC_000001.10:g.222696035G>A	VUS	1 lab	01b2320957
3:37035145 MLH1 T>C	3	37035145	37035145	T	C	MLH1	c.107T>C	NM_000249.4	NP_000240.1:p.(Ile36Thr)	NC_000003.11:g.37035145T>C	VUS	1 lab	9cedd7e8e6
7:42004735 GLI3 C>G	7	42004735	42004735	C	G	GLI3	c.3936G>C	NM_000168.6	NP_000159.3:p.(Met1312Ile)	NC_000007.13:g.42004735C>G	(Likely) benign	1 lab	01b3035d36
7:6018458 PMS2 C>T	7	6018458	6018458	C	T	PMS2	c.2175-131G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6018458C>T	(Likely) benign	1 lab	9d17b8571f
13:32945165 BRCA2 T>A	13	32945165	32945165	T	A	BRCA2	c.8560T>A	NM_000059.3	NP_000050.2:p.(Tyr2854Asn)	NC_000013.10:g.32945165T>A	(Likely) benign	1 lab	9d2a9e8536
11:108124418 ATM A>G	11	108124418	108124418	A	G	ATM	c.1899-123A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108124418A>G	(Likely) benign	1 lab	9d38120a12
17:41197535 BRCA1 T>C	17	41197535	41197535	T	C	BRCA1	c.*160A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197535T>C	(Likely) benign	1 lab	9d3af41178
11:108159906 ATM AAG>A	11	108159906	108159910	AAG	A	ATM	c.4236+79_4236+80del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108159909_108159910del	(Likely) benign	1 lab	9d4cf11697
11:108099848 ATM A>G	11	108099848	108099848	A	G	ATM	c.186-57A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108099848A>G	(Likely) benign	1 lab	9f91306c9b
19:50920535 POLD1 CA>TG	19	50920535	50920536	CA	TG	POLD1	c.3218+9_3218+10inv	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50920535_50920536inv	(Likely) benign	1 lab	9d78a3cfc0
12:106461115 NUAK1 C>T	12	106461115	106461115	C	T	NUAK1	c.1451G>A	NM_014840.3	NP_055655.1:p.(Arg484His)	NC_000012.11:g.106461115C>T	VUS	1 lab	01b30f1a6e
17:41209129 BRCA1 ATCTC>A	17	41209129	41209133	ATCTC	A	BRCA1	c.5213_5216del	NM_007294.4	NP_009225.1:p.(Gly1738ValfsTer26)	NC_000017.10:g.41209130_41209133del	VUS	1 lab	9d9bc12c3d
2:47641384 MSH2 C>T	2	47641384	47641384	C	T	MSH2	c.793-24C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641384C>T	(Likely) benign	1 lab	9dffd22b07
3:37035147 MLH1 G>A	3	37035147	37035147	G	A	MLH1	c.109G>A	NM_000249.3	NP_000240.1:p.(Glu37Lys)	NC_000003.11:g.37035147G>A	(Likely) pathogenic	1 lab	9e198e18dd
1:3645961 TP73 C>T	1	3645961	3645961	C	T	TP73	c.1145C>T	NM_005427.4	NP_005418.1:p.(Pro382Leu)	NC_000001.10:g.3645961C>T	VUS	1 lab	01b337d5e5
17:7577575 TP53 A>C	17	7577575	7577575	A	C	TP53	c.706T>G	NM_000546.5	NP_000537.3:p.(Tyr236Asp)	NC_000017.10:g.7577575A>C	(Likely) pathogenic	1 lab	9e29d9db2c
X:54949158 TRO C>T	X	54949158	54949158	C	T	TRO	c.193C>T	NM_001039705.3	NP_001034794.1:p.(Arg65Trp)	NC_000023.10:g.54949158C>T	(Likely) benign	1 lab	01b375631c
10:104678346 CNNM2 G>C	10	104678346	104678346	G	C	CNNM2	c.109G>C	NM_017649.5	NP_060119.3:p.(Gly37Arg)	NC_000010.10:g.104678346G>C	(Likely) benign	1 lab	01b666b371
11:108202260 ATM A>G	11	108202260	108202260	A	G	ATM	c.7605A>G	NM_000051.3	NP_000042.3:p.(Leu2535=)	NC_000011.9:g.108202260A>G	(Likely) benign	1 lab	9ebd5167ba
11:108139277 ATM TTG>T	11	108139277	108139280	TTG	T	ATM	c.2781_2782del	NM_000051.4	NP_000042.3:p.(Leu927PhefsTer5)	NC_000011.9:g.108139279_108139280del	(Likely) pathogenic	1 lab	9f23985865
13:32911711 BRCA2 GAGTAGT>G	13	32911711	32911717	GAGTAGT	G	BRCA2	c.3220_3225del	NM_000059.4	NP_000050.3:p.(Ser1074_Ser1075del)	NC_000013.10:g.32911712_32911717del	(Likely) pathogenic	1 lab	9fbf92eee5
4:6279359 WFS1 C>T	4	6279359	6279359	C	T	WFS1	c.177C>T	NM_006005.3	NP_005996.2:p.(Ala59=)	NC_000004.11:g.6279359C>T	(Likely) benign	1 lab	01b9eac50b
16:23641267 PALB2 G>T	16	23641267	23641267	G	T	PALB2	c.2208C>A	NM_024675.3	NP_078951.2:p.(Ala736=)	NC_000016.9:g.23641267G>T	(Likely) benign	1 lab	9fd44e7d5a
11:108150206 ATM GCT>G	11	108150206	108150208	GCT	G	ATM	c.3285-11_3285-10del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150207_108150208del	(Likely) benign	1 lab	9fefcdac72
3:37067097 MLH1 ATATT>A	3	37067097	37067102	ATATT	A	MLH1	c.1039-29_1039-26del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067099_37067102del	(Likely) benign	1 lab	a007e39617
16:23647310 PALB2 T>A	16	23647310	23647310	T	A	PALB2	c.557A>T	NM_024675.3	NP_078951.2:p.(Asn186Ile)	NC_000016.9:g.23647310T>A	VUS	1 lab	a01135a158
4:1807182 FGFR3 G>A	4	1807182	1807182	G	A	FGFR3	c.1513G>A	NM_000142.5	NP_000133.1:p.(Val505Ile)	NC_000004.11:g.1807182G>A	(Likely) benign	1 lab	01ba4f98aa
7:151851508 KMT2C G>A	7	151851508	151851508	G	A	KMT2C				NC_000007.13:g.151851508G>A	(Likely) pathogenic	1 lab	3151056363
3:37053584 MLH1 TTAGTC>T	3	37053584	37053589	TTAGTC	T	MLH1	c.672_676del	NM_000249.4	NP_000240.1:p.(Ser225ArgfsTer8)	NC_000003.11:g.37053585_37053589del	(Likely) pathogenic	1 lab	a04a1c17bf
3:37067075 MLH1 CTA>C	3	37067075	37067100	CTA	C	MLH1	c.1039-29_1039-28del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067099_37067100del	(Likely) benign	1 lab	a05b9cb4b5
11:108225594 ATM TTGTAGAG>T	11	108225594	108225601	TTGTAGAG	T	ATM	c.8844_8850del	NM_000051.4	NP_000042.3:p.(Ile2948MetfsTer13)	NC_000011.9:g.108225595_108225601del	(Likely) pathogenic	1 lab	a065a2c69d
11:108137923 ATM A>G	11	108137923	108137923	A	G	ATM	c.2492A>G	NM_000051.3	NP_000042.3:p.(Asp831Gly)	NC_000011.9:g.108137923A>G	(Likely) benign	1 lab	a0b1eb04e4
13:32971284 BRCA2 AAT>A	13	32971284	32971286	AAT	A	BRCA2	c.9648+104_9648+105del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32971285_32971286del	(Likely) benign	1 lab	a0e7678c4a
11:108114622 ATM A>C	11	108114622	108114622	A	C	ATM	c.497-58A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108114622A>C	(Likely) benign	1 lab	a0ebad96ae
11:47469680 RAPSN G>T	11	47469680	47469680	G	T	RAPSN	c.215C>A	NM_005055.5	NP_005046.2:p.(Thr72Lys)	NC_000011.9:g.47469680G>T	VUS	1 lab	01bb0db61e
4:6302448 WFS1 G>A	4	6302448	6302448	G	A	WFS1	c.926G>A	NM_006005.3	NP_005996.2:p.(Arg309Lys)	NC_000004.11:g.6302448G>A	(Likely) benign	1 lab	01bba6274f
13:32900378 BRCA2 G>A	13	32900378	32900378	G	A	BRCA2	c.476-1G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900378G>A	VUS	1 lab	a182f85188
9:35403971 UNC13B G>T	9	35403971	35403971	G	T	UNC13B	c.12964G>T	NM_001371189.2	NP_001358118.1:p.(Val4322Leu)	NC_000009.11:g.35403971G>T	VUS	1 lab	01bf590df8
17:41209073 BRCA1 CTG>C	17	41209073	41209076	CTG	C	BRCA1	c.5271_5272del	NM_007294.4	NP_009225.1:p.(Asp1757GlufsTer72)	NC_000017.10:g.41209075_41209076del	(Likely) pathogenic	1 lab	a20d19a7bb
2:47637182 MSH2 T>C	2	47637182	47637182	T	C	MSH2	c.367-51T>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47637182T>C	(Likely) benign	1 lab	a239f1a21b
4:88940616 PKD2 G>A	4	88940616	88940616	G	A	PKD2	c.602G>A	NM_000297.4	NP_000288.1:p.(Trp201Ter)	NC_000004.11:g.88940616G>A	(Likely) pathogenic	1 lab	01bff2cd55
2:47703379 MSH2 C>T	2	47703379	47703379	C	T	MSH2	c.2006-127C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47703379C>T	(Likely) benign	1 lab	a2428849fd
2:48030638 MSH6 TAC>T	2	48030638	48030640	TAC	T	MSH6	c.3253_3254del	NM_000179.3	NP_000170.1:p.(Thr1085ProfsTer7)	NC_000002.11:g.48030639_48030640del	(Likely) pathogenic	1 lab	a256c92c4e
11:108205899 ATM T>G	11	108205899	108205899	T	G	ATM	c.8151+63T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205899T>G	(Likely) benign	1 lab	a26e4f26cd
11:108114660 ATM AAT>A	11	108114660	108114662	AAT	A	ATM	c.497-19_497-18del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114661_108114662del	(Likely) benign	1 lab	a277c62d2a
16:68845682 CDH1 G>T	16	68845682	68845682	G	T	CDH1	c.928G>T	NM_004360.3	NP_004351.1:p.(Glu310Ter)	NC_000016.9:g.68845682G>T	(Likely) pathogenic	1 lab	a29ff2701f
12:105151093 CHST11 A>G	12	105151093	105151093	A	G	CHST11	c.571A>G	NM_018413.6	NP_060883.1:p.(Arg191Gly)	NC_000012.11:g.105151093A>G	VUS	1 lab	01c05929fc
12:88443125 RLIG1 C>T	12	88443125	88443125	C	T	RLIG1	c.*926C>T	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443125C>T	VUS	1 lab	01c079e1ad
11:108201204 ATM C>A	11	108201204	108201204	C	A	ATM	c.7515+56C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108201204C>A	(Likely) benign	1 lab	a348f949c8
1:6038341 NPHP4 C>G	1	6038341	6038341	C	G	NPHP4	c.268G>C	NM_015102.5	NP_055917.1:p.(Val90Leu)	NC_000001.10:g.6038341C>G	(Likely) benign	1 lab	01c31e9ec3
15:67500919 AAGAB G>A	15	67500919	67500919	G	A	AAGAB	c.696C>T	NM_024666.5	NP_078942.3:p.(Ala232=)	NC_000015.9:g.67500919G>A	VUS	1 lab	01c3ba3eb3
4:6302920 WFS1 CCTG>C	4	6302920	6302925	CCTG	C	WFS1	c.1401_1403del	NM_006005.3	NP_005996.2:p.(Leu468del)	NC_000004.11:g.6302923_6302925del	(Likely) pathogenic	1 lab	01c5cde252
11:108098243 ATM A>G	11	108098243	108098243	A	G	ATM	c.-30-79A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098243A>G	(Likely) benign	1 lab	a39da7dc5a
X:149764969 MTM1 G>A	X	149764969	149764969	G	A	MTM1	c.71G>A	NM_000252.3	NP_000243.1:p.(Arg24Gln)	NC_000023.10:g.149764969G>A	(Likely) benign	1 lab	01c65968d9
11:62638310 SLC3A2 GTAATAATAATAATAA>G	11	62638310	62638329	GTAATAATAATAATAA	G	SLC3A2	c.113-734_113-720del	NM_001012662.2	NP_001012680.1:p.?	NC_000011.9:g.62638315_62638329del	(Likely) benign	1 lab	13f8dad605
12:133241857 POLE A>G	12	133241857	133241857	A	G	POLE	c.2468+31T>C	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133241857A>G	(Likely) benign	1 lab	a44a6da9de
22:29085340 CHEK2 A>G	22	29085340	29085340	A	G	CHEK2	c.1462-137T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085340A>G	(Likely) benign	1 lab	a45d90cd67
13:32914273 BRCA2 A>G	13	32914273	32914273	A	G	BRCA2	c.5781A>G	NM_000059.3	NP_000050.2:p.(Glu1927=)	NC_000013.10:g.32914273A>G	(Likely) benign	1 lab	a477fdfa1e
7:39990265 CDK13 C>G	7	39990265	39990265	C	G	CDK13	c.25C>G	NM_003718.5	NP_003709.3:p.(Leu9Val)	NC_000007.13:g.39990265C>G	VUS	1 lab	01c6bd6696
17:41267985 BRCA1 T>A	17	41267985	41267985	T	A	BRCA1	c.81-189A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267985T>A	(Likely) benign	1 lab	a4b4bc79f9
19:11319709 DOCK6 C>T	19	11319709	11319709	C	T	DOCK6	c.4822G>A	NM_020812.4	NP_065863.2:p.(Ala1608Thr)	NC_000019.9:g.11319709C>T	VUS	1 lab	01c81779b9
2:47639713 MSH2 A>C	2	47639713	47639713	A	C	MSH2	c.792+14A>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47639713A>C	(Likely) benign	1 lab	a52d6da2dd
4:1803438 FGFR3 G>A	4	1803438	1803438	G	A	FGFR3	c.707G>A	NM_000142.5	NP_000133.1:p.(Ser236Asn)	NC_000004.11:g.1803438G>A	VUS	1 lab	01c8bd6d5d
7:124493336 POT1 C>T	7	124493336	124493336	C	T	POT1	c.703-144G>A	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124493336C>T	(Likely) benign	1 lab	a53a5e5e1b
11:2170501 IGF2 C>T	11	2170501	2170501	C	T	IGF2	c.-394G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170501C>T	(Likely) benign	1 lab	143a0a552c
16:2106745 TSC2 A>G	16	2106745	2106745	A	G	TSC2	c.749A>G	NM_000548.3	NP_000539.2:p.(Lys250Arg)	NC_000016.9:g.2106745A>G	VUS	1 lab	a566bd00f9
3:72799996 SHQ1 C>T	3	72799996	72799996	C	T	SHQ1	c.1182-9G>A	NM_018130.3	NP_060600.2:p.?	NC_000003.11:g.72799996C>T	(Likely) benign	1 lab	01caa079fb
3:154855888 MME C>T	3	154855888	154855888	C	T	MME	c.721-3C>T	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154855888C>T	(Likely) benign	1 lab	01cc7237af
11:108160538 ATM A>G	11	108160538	108160538	A	G	ATM	c.4436+10A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108160538A>G	(Likely) benign	1 lab	a5b4acb880
17:7578395 TP53 G>A	17	7578395	7578395	G	A	TP53	c.535C>T	NM_000546.5	NP_000537.3:p.(His179Tyr)	NC_000017.10:g.7578395G>A	(Likely) pathogenic	1 lab	a5bdfca9a2
11:108200957 ATM C>T	11	108200957	108200957	C	T	ATM	c.7324C>T	NM_000051.3	NP_000042.3:p.(Gln2442Ter)	NC_000011.9:g.108200957C>T	(Likely) pathogenic	1 lab	a5e7fa2ca9
7:881674 SUN1 G>A	7	881674	881674	G	A	SUN1	c.358G>A	NM_001130965.3	NP_001124437.1:p.(Gly120Ser)	NC_000007.13:g.881674G>A	(Likely) benign	1 lab	01cc9f95fa
15:51669646 GLDN A>T	15	51669646	51669646	A	T	GLDN	c.364A>T	NM_181789.4	NP_861454.2:p.(Ile122Phe)	NC_000015.9:g.51669646A>T	VUS	1 lab	01cd866700
X:118281482 KIAA1210 G>A	X	118281482	118281482	G	A	KIAA1210	c.364C>T	NM_020721.1	NP_065772.1:p.(His122Tyr)	NC_000023.10:g.118281482G>A	VUS	1 lab	145a64423a
11:108098277 ATM ATATATAC>A	11	108098277	108098284	ATATATAC	A	ATM	c.-30-44_-30-38del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098278_108098284del	(Likely) benign	1 lab	a6951bb2e5
3:69988354 MITF T>C	3	69988354	69988354	T	C	MITF	c.345+22T>C	NM_000248.3	NP_000239.1:p.?	NC_000003.11:g.69988354T>C	(Likely) benign	1 lab	a6b09512f6
16:23634301 PALB2 T>A	16	23634301	23634301	T	A	PALB2	c.2985A>T	NM_024675.3	NP_078951.2:p.(Ala995=)	NC_000016.9:g.23634301T>A	(Likely) benign	1 lab	a6b55bf61e
X:54482147 FGD1 C>CGG	X	54482147	54482149	C	CGG	FGD1	c.1912_1913insCC	NM_004463.3	NP_004454.2:p.(Arg638ProfsTer5)	NC_000023.10:g.54482148_54482149insGG	(Likely) pathogenic	1 lab	01cfb3b7db
13:32972277 BRCA2 T>A	13	32972277	32972277	T	A	BRCA2	c.9649-22T>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32972277T>A	(Likely) benign	1 lab	a6cd4b46a4
3:183217530 KLHL6 C>T	3	183217530	183217530	C	T	KLHL6	c.995G>A	NM_130446.4	NP_569713.2:p.(Arg332Gln)	NC_000003.11:g.183217530C>T	(Likely) benign	1 lab	01d04629ac
8:77618113 ZFHX4 C>T	8	77618113	77618113	C	T	ZFHX4	c.1790C>T	NM_024721.5	NP_078997.4:p.(Thr597Ile)	NC_000008.10:g.77618113C>T	(Likely) benign	1 lab	01d1164100
13:32944622 BRCA2 A>C	13	32944622	32944622	A	C	BRCA2	c.8415A>C	NM_000059.3	NP_000050.2:p.(Leu2805Phe)	NC_000013.10:g.32944622A>C	VUS	1 lab	a701fb18a8
9:99003167 HSD17B3 G>A	9	99003167	99003167	G	A	HSD17B3				NC_000009.11:g.99003167G>A	(Likely) pathogenic	1 lab	37d951d494
22:50312548 CRELD2 T>TTTC	22	50312548	50312549	T	TTTC	CRELD2	c.129+2_129+3insTTC	NM_024324.5	NP_077300.3:p.?	NC_000022.10:g.50312548_50312549insTTC	(Likely) benign	1 lab	01d1ad4464
11:119167754 CBL C>T	11	119167754	119167754	C	T	CBL	c.2153+10C>T	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119167754C>T	(Likely) benign	1 lab	01d4a74489
12:1022569 RAD52 A>C	12	1022569	1022569	A	C	RAD52	c.1245T>G	NM_134424.4	NP_602296.2:p.(Tyr415Ter)	NC_000012.11:g.1022569A>C	(Likely) benign	1 lab	01d4a7e8fd
21:47417379 COL6A1 G>A	21	47417379	47417379	G	A	COL6A1	c.1443G>A	NM_001848.3	NP_001839.2:p.(Glu481=)	NC_000021.8:g.47417379G>A	(Likely) benign	1 lab	01d560457f
X:71360204 NHSL2 A>G	X	71360204	71360204	A	G	NHSL2	c.2806A>G	NM_001013627.3	NP_001013649.2:p.(Arg936Gly)	NC_000023.10:g.71360204A>G	(Likely) benign	1 lab	01d6a3ae53
5:149359989 SLC26A2 C>T	5	149359989	149359989	C	T	SLC26A2	c.833C>T	NM_000112.4	NP_000103.2:p.(Pro278Leu)	NC_000005.9:g.149359989C>T	VUS	1 lab	01d820532e
7:44193074 GCK G>A	7	44193074	44193074	G	A	GCK	c.46-12C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44193074G>A	(Likely) benign	1 lab	0876886acc
11:17428550 ABCC8 A>G	11	17428550	17428550	A	G	ABCC8	c.3047T>C	NM_000352.6	NP_000343.2:p.(Val1016Ala)	NC_000011.9:g.17428550A>G	VUS	1 lab	01d9a16c9b
10:1170235 WDR37 A>T	10	1170235	1170235	A	T	WDR37	c.1181A>T	NM_014023.4	NP_054742.2:p.(Asp394Val)	NC_000010.10:g.1170235A>T	VUS	1 lab	01d9e48ab1
22:29115466 CHEK2 GAC>G	22	29115466	29115469	GAC	G	CHEK2	c.598_599del	NM_007194.4	NP_009125.1:p.(Val200LeufsTer3)	NC_000022.10:g.29115468_29115469del	(Likely) pathogenic	1 lab	a8f400b212
9:140069775 ANAPC2 G>A	9	140069775	140069775	G	A	ANAPC2	c.2170C>T	NM_013366.4	NP_037498.1:p.(Arg724Trp)	NC_000009.11:g.140069775G>A	VUS	1 lab	01db09a0b4
7:2584678 BRAT1 G>GT	7	2584678	2584679	G	GT	BRAT1	c.294dup	NM_152743.4	NP_689956.2:p.(Leu99ThrfsTer92)	NC_000007.13:g.2584679dup	(Likely) pathogenic	1 lab	01ddb87ecc
17:41215347 BRCA1 TAC>T	17	41215347	41215349	TAC	T	BRCA1	c.5193+1_5193+2del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215348_41215349del	(Likely) pathogenic	1 lab	a91b4585a2
16:23647704 PALB2 A>G	16	23647704	23647704	A	G	PALB2	c.212-49T>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23647704A>G	(Likely) benign	1 lab	a9313c49b6
22:19770454 TBX1 C>T	22	19770454	19770454	C	T	TBX1	c.1028C>T	NM_005992.1	NP_005983.1:p.(Ser343Phe)	NC_000022.10:g.19770454C>T	VUS	1 lab	145aad6ece
17:56772191 RAD51C T>C	17	56772191	56772191	T	C	RAD51C	c.146-101T>C	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56772191T>C	(Likely) benign	1 lab	a9a73889e0
13:32914764 BRCA2 GTCT>G	13	32914764	32914769	GTCT	G	BRCA2	c.6275_6277del	NM_000059.4	NP_000050.3:p.(Leu2092del)	NC_000013.10:g.32914767_32914769del	(Likely) pathogenic	1 lab	a9c185743e
7:77648648 MAGI2 G>A	7	77648648	77648648	G	A	MAGI2	c.4352C>T	NM_012301.4	NP_036433.2:p.(Ser1451Leu)	NC_000007.13:g.77648648G>A	VUS	1 lab	01de3871ac
6:30879869 GTF2H4 C>T	6	30879869	30879869	C	T	GTF2H4	c.904C>T	NM_001517.5	NP_001508.1:p.(His302Tyr)	NC_000006.11:g.30879869C>T	VUS	1 lab	01de6ee87e
13:32899235 BRCA2 ACAT>A	13	32899235	32899238	ACAT	A	BRCA2	c.340_342del	NM_000059.4	NP_000050.3:p.(His114del)	NC_000013.10:g.32899236_32899238del	(Likely) pathogenic	1 lab	aa3d4a0df2
13:32918720 BRCA2 A>T	13	32918720	32918720	A	T	BRCA2	c.6867A>T	NM_000059.3	NP_000050.2:p.(Leu2289Phe)	NC_000013.10:g.32918720A>T	(Likely) benign	1 lab	aa4169c8f9
19:56001766 SSC5D C>T	19	56001766	56001766	C	T	SSC5D	c.577C>T	NM_001144950.2	NP_001138422.1:p.(Pro193Ser)	NC_000019.9:g.56001766C>T	(Likely) benign	1 lab	01e1ab71a2
13:32913423 BRCA2 AAAAAG>A	13	32913423	32913431	AAAAAG	A	BRCA2	c.4935_4939del	NM_000059.4	NP_000050.3:p.(Lys1645AsnfsTer19)	NC_000013.10:g.32913427_32913431del	(Likely) pathogenic	1 lab	aac977b175
13:28494592 PDX1 C>T	13	28494592	28494592	C	T	PDX1	c.317C>T	NM_000209.4	NP_000200.1:p.(Pro106Leu)	NC_000013.10:g.28494592C>T	VUS	1 lab	01e67584ee
13:32913618 BRCA2 ATTATG>A	13	32913618	32913624	ATTATG	A	BRCA2	c.5128_5132del	NM_000059.4	NP_000050.3:p.(Tyr1710ArgfsTer6)	NC_000013.10:g.32913620_32913624del	(Likely) pathogenic	1 lab	aadd8c10da
17:41245626 BRCA1 A>G	17	41245626	41245626	A	G	BRCA1	c.1922T>C	NM_007294.3	NP_009225.1:p.(Ile641Thr)	NC_000017.10:g.41245626A>G	VUS	1 lab	ab31d2079a
3:37092172 MLH1 TGTTC>T	3	37092172	37092176	TGTTC	T	MLH1	c.*29_*32del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37092173_37092176del	(Likely) benign	1 lab	ab3eb19933
13:32944722 BRCA2 A>G	13	32944722	32944722	A	G	BRCA2	c.8487+28A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944722A>G	(Likely) benign	1 lab	ab58813568
13:32968733 BRCA2 A>C	13	32968733	32968733	A	C	BRCA2	c.9257-93A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968733A>C	(Likely) benign	1 lab	ab6a39b76a
16:30748789 SRCAP T>G	16	30748789	30748789	T	G	SRCAP	c.7428T>G	NM_006662.3	NP_006653.2:p.(Ile2476Met)	NC_000016.9:g.30748789T>G	(Likely) benign	1 lab	01e6ca5d59
7:6048582 PMS2 G>A	7	6048582	6048582	G	A	PMS2	c.23+46C>T	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6048582G>A	(Likely) benign	1 lab	ab98bd6348
2:48018314 MSH6 T>TGA	2	48018314	48018320	T	TGA	MSH6	c.457+57_457+58dup	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018319_48018320dup	(Likely) benign	1 lab	ababd01051
1:168056817 GPR161 G>A	1	168056817	168056817	G	A	GPR161	c.1324+6C>T	NM_001375883.1	NP_001362812.1:p.?	NC_000001.10:g.168056817G>A	(Likely) benign	1 lab	01e934374f
13:32918614 BRCA2 T>TA	13	32918614	32918621	T	TA	BRCA2	c.6842-74dup	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918621dup	(Likely) benign	1 lab	ac11e44c10
11:108114683 ATM T>C	11	108114683	108114683	T	C	ATM	c.500T>C	NM_000051.3	NP_000042.3:p.(Leu167Ser)	NC_000011.9:g.108114683T>C	VUS	1 lab	ac31e7a625
16:30727424 SRCAP A>G	16	30727424	30727424	A	G	SRCAP	c.2531A>G	NM_006662.3	NP_006653.2:p.(Asp844Gly)	NC_000016.9:g.30727424A>G	(Likely) benign	1 lab	01e96bdd59
16:23646141 PALB2 T>TTCA	16	23646141	23646165	T	TTCA	PALB2	c.1684+39_1684+41dup	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23646163_23646165dup	(Likely) benign	1 lab	ac5ffe3a68
5:125912891 ALDH7A1 G>A	5	125912891	125912891	G	A	ALDH7A1	c.530C>T	NM_001182.5	NP_001173.2:p.(Ala177Val)	NC_000005.9:g.125912891G>A	VUS	1 lab	01ea2afc66
12:111538200 CUX2 A>G	12	111538200	111538200	A	G	CUX2	c.63+66156A>G	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111538200A>G	(Likely) benign	1 lab	01eb6f1c04
11:108178599 ATM G>A	11	108178599	108178599	G	A	ATM	c.5675-25G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108178599G>A	(Likely) benign	1 lab	accbda8e19
7:794216 DNAAF5 T>G	7	794216	794216	T	G	DNAAF5	c.1025-10T>G	NM_017802.4	NP_060272.3:p.?	NC_000007.13:g.794216T>G	(Likely) benign	1 lab	01ebee75d3
13:77695504 MYCBP2 C>CT	13	77695504	77695505	C	CT	MYCBP2	c.8140+3dup	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77695505dup	VUS	1 lab	01ec317d94
12:53676212 ESPL1 T>A	12	53676212	53676212	T	A	ESPL1	c.2784T>A	NM_012291.5	NP_036423.4:p.(Cys928Ter)	NC_000012.11:g.53676212T>A	VUS	1 lab	01ee919b2e
19:12996460 KLF1 G>A	19	12996460	12996460	G	A	KLF1	c.584C>T	NM_006563.5	NP_006554.1:p.(Ala195Val)	NC_000019.9:g.12996460G>A	(Likely) benign	1 lab	01ef03dd99
17:41246038 BRCA1 GCTTTAA>G	17	41246038	41246044	GCTTTAA	G	BRCA1	c.1504_1509del	NM_007294.4	NP_009225.1:p.(Leu502_Lys503del)	NC_000017.10:g.41246039_41246044del	(Likely) pathogenic	1 lab	ad2a898be5
13:32918738 BRCA2 G>A	13	32918738	32918738	G	A	BRCA2	c.6885G>A	NM_000059.3	NP_000050.2:p.(Arg2295=)	NC_000013.10:g.32918738G>A	(Likely) benign	1 lab	ad690fecad
2:47612922 EPCAM T>C	2	47612922	47612922	T	C	EPCAM	c.903+573T>C	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47612922T>C	(Likely) benign	1 lab	ad708131b0
16:67691668 ACD A>G	16	67691668	67691668	A	G	ACD	c.1295T>C	NM_001082486.2	NP_001075955.2:p.(Val432Ala)	NC_000016.9:g.67691668A>G	(Likely) benign	1 lab	ad9de8094a
3:37035272 MLH1 C>T	3	37035272	37035272	C	T	MLH1	c.116+118C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37035272C>T	(Likely) benign	1 lab	ada486c16f
17:7579674 TP53 G>A	17	7579674	7579674	G	A	TP53	c.96+26C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579674G>A	(Likely) benign	1 lab	ade16dca86
11:108205919 ATM G>A	11	108205919	108205919	G	A	ATM	c.8151+83G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205919G>A	(Likely) benign	1 lab	ae04cfee53
16:67694211 ACD C>T	16	67694211	67694211	C	T	ACD	c.171G>A	NM_001082486.1	NP_001075955.1:p.(Ala57=)	NC_000016.9:g.67694211C>T	(Likely) benign	1 lab	15acec94c1
5:32710896 NPR3 G>A	5	32710896	32710896	G	A	NPR3	c.121+7G>A	NM_001204376.1	NP_001191305.1:p.?	NC_000005.9:g.32710896G>A	(Likely) benign	1 lab	15ca6ccecb
1:13368168 PRAMEF5 C>A	1	13368168	13368168	C	A	PRAMEF5	c.870-4C>A	NM_001013407.1	NP_001013425.1:p.?	NC_000001.10:g.13368168C>A	(Likely) benign	1 lab	15d842f23c
3:128813957 RAB43 T>G	3	128813957	128813957	T	G	RAB43	c.260A>C	NM_198490.3	NP_940892.1:p.(Tyr87Ser)	NC_000003.11:g.128813957T>G	VUS	1 lab	01f3dbf81c
17:41199674 BRCA1 T>C	17	41199674	41199674	T	C	BRCA1	c.5453A>G	NM_007294.3	NP_009225.1:p.(Asp1818Gly)	NC_000017.10:g.41199674T>C	(Likely) pathogenic	1 lab	aec8b8509c
18:55270070 NARS1 G>C	18	55270070	55270070	G	C	NARS1	c.1357C>G	NM_004539.4	NP_004530.1:p.(Pro453Ala)	NC_000018.9:g.55270070G>C	VUS	1 lab	01f4e812a0
7:2565320 LFNG G>A	7	2565320	2565320	G	A	LFNG	c.737G>A	NM_001040167.2	NP_001035257.1:p.(Arg246His)	NC_000007.13:g.2565320G>A	VUS	1 lab	01f5292448
17:41267946 BRCA1 C>T	17	41267946	41267946	C	T	BRCA1	c.81-150G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267946C>T	(Likely) benign	1 lab	af7cb4319b
9:21968198 CDKN2A C>T	9	21968198	21968198	C	T	CDKN2A	c.*30G>A	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21968198C>T	(Likely) benign	1 lab	af98ffeab8
17:41256833 BRCA1 G>T	17	41256833	41256833	G	T	BRCA1	c.301+52C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256833G>T	(Likely) benign	1 lab	afa3ba7468
14:59105186 DACT1 T>C	14	59105186	59105186	T	C	DACT1	c.266T>C	NM_001079520.2	NP_001072988.1:p.(Leu89Pro)	NC_000014.8:g.59105186T>C	(Likely) benign	1 lab	01f7cad85e
1:17086769 MST1L T>A	1	17086769	17086769	T	A	MST1L	c.476-2A>T	NM_001271733.1	NP_001258662.1:p.?	NC_000001.10:g.17086769T>A	VUS	1 lab	15e243e5ea
2:48018030 MSH6 A>G	2	48018030	48018030	A	G	MSH6	c.261-36A>G	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018030A>G	(Likely) benign	1 lab	b097e9ad9d
2:47604118 EPCAM A>AT	2	47604118	47604127	A	AT	EPCAM	c.492-26dup	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47604127dup	(Likely) benign	1 lab	b09db68e02
11:108160215 ATM TTTTAAATATAAAATGTG>T	11	108160215	108160233	TTTTAAATATAAAATGTG	T	ATM	c.4237-112_4237-96del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108160217_108160233del	(Likely) benign	1 lab	b0abfe8a8e
20:62046376 KCNQ2 C>T	20	62046376	62046376	C	T	KCNQ2	c.1405G>A	NM_172107.4	NP_742105.1:p.(Ala469Thr)	NC_000020.10:g.62046376C>T	VUS	1 lab	01fa189a64
13:32918622 BRCA2 T>A	13	32918622	32918622	T	A	BRCA2	c.6842-73T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32918622T>A	(Likely) benign	1 lab	b19e447a1b
2:48018201 MSH6 G>GT	2	48018201	48018207	G	GT	MSH6	c.402dup	NM_000179.2	NP_000170.1:p.(Asp135Ter)	NC_000002.11:g.48018207dup	(Likely) pathogenic	1 lab	b1b2435768
6:96996118 UFL1 C>T	6	96996118	96996118	C	T	UFL1	c.1481C>T	NM_015323.5	NP_056138.1:p.(Pro494Leu)	NC_000006.11:g.96996118C>T	(Likely) benign	1 lab	01fae50fe2
1:176526295 PAPPA2 GGCTG>CC	1	176526295	176526299	GGCTG	CC	PAPPA2	c.837_841delinsCC	NM_020318.3	NP_064714.2:p.(Ala280_Glu281delinsGln)	NC_000001.10:g.176526295_176526299delinsCC	VUS	1 lab	01fcffdf89
17:41243096 BRCA1 C>T	17	41243096	41243096	C	T	BRCA1	c.4097-47G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243096C>T	(Likely) benign	1 lab	b2c976cb90
1:152084564 TCHH G>C	1	152084564	152084564	G	C	TCHH	c.1129C>G	NM_007113.4	NP_009044.2:p.(Leu377Val)	NC_000001.10:g.152084564G>C	VUS	1 lab	01fddddf96
22:21342451 LZTR1 G>T	22	21342451	21342451	G	T	LZTR1	c.509+44G>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21342451G>T	(Likely) benign	1 lab	b3139acb86
11:108123684 ATM T>C	11	108123684	108123684	T	C	ATM	c.1898+45T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123684T>C	(Likely) benign	1 lab	b3572df5c6
2:47641405 MSH2 T>TAAAATTA	2	47641405	47641407	T	TAAAATTA	MSH2	c.793-2_793-1insAAATTAA	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641406_47641407insAAATTAA	VUS	1 lab	b36616046c
X:13754791 OFD1 A>T	X	13754791	13754791	A	T	OFD1	c.306A>T	NM_003611.3	NP_003602.1:p.(Lys102Asn)	NC_000023.10:g.13754791A>T	VUS	1 lab	0200235427
13:32968751 BRCA2 G>C	13	32968751	32968751	G	C	BRCA2	c.9257-75G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968751G>C	(Likely) benign	1 lab	b404c1258e
19:36218381 KMT2B T>C	19	36218381	36218381	T	C	KMT2B	c.4160T>C	NM_014727.3	NP_055542.1:p.(Leu1387Pro)	NC_000019.9:g.36218381T>C	(Likely) benign	1 lab	0200f4fb1b
13:32911703 BRCA2 C>T	13	32911703	32911703	C	T	BRCA2	c.3211C>T	NM_000059.3	NP_000050.2:p.(His1071Tyr)	NC_000013.10:g.32911703C>T	(Likely) benign	1 lab	b4972abbf5
9:134385331 POMT1 G>C	9	134385331	134385331	G	C	POMT1	c.647G>C	NM_001077365.2	NP_001070833.1:p.(Gly216Ala)	NC_000009.11:g.134385331G>C	VUS	1 lab	0200f68ae8
7:149509375 SSPOP G>A	7	149509375	149509375	G	A	SSPOP	n.9868G>A	NR_163594.1		NC_000007.13:g.149509375G>A	VUS	1 lab	160626c7aa
17:3030394 OR1G1 A>G	17	3030394	3030394	A	G	OR1G1	c.452T>C	NM_003555.1	NP_003546.1:p.(Met151Thr)	NC_000017.10:g.3030394A>G	VUS	1 lab	02014194a2
8:37620066 PLPBP C>T	8	37620066	37620066	C	T	PLPBP	c.-7C>T	NM_001349349.1	NP_001336278.1:p.?	NC_000008.10:g.37620066C>T	VUS	1 lab	166e29afb2
13:32918678 BRCA2 G>A	13	32918678	32918678	G	A	BRCA2	c.6842-17G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32918678G>A	(Likely) benign	1 lab	b533feab38
3:15529734 COLQ G>A	3	15529734	15529734	G	A	COLQ	c.300C>T	NM_005677.4	NP_005668.2:p.(Ser100=)	NC_000003.11:g.15529734G>A	(Likely) benign	1 lab	0201657749
12:132549337 EP400 A>C	12	132549337	132549337	A	C	EP400	c.8459A>C	NM_015409.5	NP_056224.3:p.(Gln2820Pro)	NC_000012.11:g.132549337A>C	(Likely) benign	1 lab	02028a3be6
4:3498598 DOK7 C>T	4	3498598	3498598	C	T	DOK7	c.1540+9C>T	NM_001301071.1	NP_001288000.1:p.?	NC_000004.11:g.3498598C>T	VUS	1 lab	16f5d5d11c
11:65721124 TSGA10IP G>A	11	65721124	65721124	G	A	TSGA10IP	c.1238G>A	NM_152762.3	NP_689975.2:p.(Arg413Gln)	NC_000011.9:g.65721124G>A	(Likely) benign	1 lab	0206bc5ffe
6:26027138 H4C2 AAGGGCCATTGGAAGAAAACTGACGAAAAGATTAACCGCCGAAGCCGTACAGAGTGCGTCCTTGACGCTTGAGCGCGTAAACCACATCCATGGCAGTGACAGTCTTGCGCTTGGCGTGCTCCGT>A	6	26027138	26027261	AAGGGCCATTGGAAGAAAACTGACGAAAAGATTAACCGCCGAAGCCGTACAGAGTGCGTCCTTGACGCTTGAGCGCGTAAACCACATCCATGGCAGTGACAGTCTTGCGCTTGGCGTGCTCCGT	A	H4C2	c.220_*30del	NM_003544.3	NP_003535.1:p.(Thr74_Ter104delinsPheGlnGlyArgPro)	NC_000006.11:g.26027139_26027261del	VUS	1 lab	0207248541
16:2147139 PKD1 G>A	16	2147139	2147139	G	A	PKD1	c.10499+10C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2147139G>A	(Likely) benign	1 lab	0208f330a1
17:59934592 BRIP1 C>G	17	59934592	59934592	C	G	BRIP1	c.206G>C	NM_032043.2	NP_114432.2:p.(Gly69Ala)	NC_000017.10:g.59934592C>G	VUS	1 lab	b65ae16ae7
10:97373558 ALDH18A1 G>A	10	97373558	97373558	G	A	ALDH18A1	c.1864C>T	NM_002860.4	NP_002851.2:p.(Arg622Trp)	NC_000010.10:g.97373558G>A	VUS	1 lab	020b025d7e
22:29115511 CHEK2 T>C	22	29115511	29115511	T	C	CHEK2	c.593-38A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115511T>C	(Likely) benign	1 lab	b695662ce5
13:32911834 BRCA2 T>C	13	32911834	32911834	T	C	BRCA2	c.3342T>C	NM_000059.3	NP_000050.2:p.(Leu1114=)	NC_000013.10:g.32911834T>C	(Likely) benign	1 lab	b6cba9a0d1
17:59924498 BRIP1 A>G	17	59924498	59924498	A	G	BRIP1	c.591T>C	NM_032043.2	NP_114432.2:p.(Ser197=)	NC_000017.10:g.59924498A>G	(Likely) benign	1 lab	b6f3a98941
20:17610485 RRBP1 T>C	20	17610485	17610485	T	C	RRBP1	c.2732A>G	NM_001365613.2	NP_001352542.1:p.(Gln911Arg)	NC_000020.10:g.17610485T>C	VUS	1 lab	020eb53324
1:1470969 TMEM240 C>T	1	1470969	1470969	C	T	TMEM240	c.373G>A	NM_001114748.2	NP_001108220.1:p.(Asp125Asn)	NC_000001.10:g.1470969C>T	VUS	1 lab	020ef9d4a2
10:134692971 CFAP46 A>G	10	134692971	134692971	A	G	CFAP46	c.3964T>C	NM_001200049.3	NP_001186978.2:p.(Cys1322Arg)	NC_000010.10:g.134692971A>G	(Likely) benign	1 lab	020fb5377e
3:172163252 GHSR A>G	3	172163252	172163252	A	G	GHSR	c.800T>C	NM_198407.2	NP_940799.1:p.(Val267Ala)	NC_000003.11:g.172163252A>G	VUS	1 lab	02110f2311
17:41234632 BRCA1 T>C	17	41234632	41234632	T	C	BRCA1	c.4186-40A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41234632T>C	(Likely) benign	1 lab	b7b2715ddb
X:49021693 MAGIX G>T	X	49021693	49021693	G	T	MAGIX	c.673G>T	NM_024859.4	NP_079135.3:p.(Gly225Ter)	NC_000023.10:g.49021693G>T	VUS	1 lab	021398c62e
17:41201192 BRCA1 T>C	17	41201192	41201192	T	C	BRCA1	c.5352A>G	NM_007294.3	NP_009225.1:p.(Val1784=)	NC_000017.10:g.41201192T>C	(Likely) benign	1 lab	b7e1aa19f2
14:21883089 CHD8 T>A	14	21883089	21883089	T	A	CHD8	c.2024+8A>T	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21883089T>A	(Likely) benign	1 lab	0214982e64
1:200972875 KIF21B C>T	1	200972875	200972875	C	T	KIF21B	c.1051G>A	NM_001252100.1	NP_001239029.1:p.(Asp351Asn)	NC_000001.10:g.200972875C>T	VUS	1 lab	16fceda1eb
17:41245722 BRCA1 TTC>T	17	41245722	41245725	TTC	T	BRCA1	c.1824_1825del	NM_007294.4	NP_009225.1:p.(Asn609Ter)	NC_000017.10:g.41245724_41245725del	(Likely) pathogenic	1 lab	b8bb418f00
2:48026749 MSH6 AAAG>A	2	48026749	48026754	AAAG	A	MSH6	c.1630_1632del	NM_000179.3	NP_000170.1:p.(Glu544del)	NC_000002.11:g.48026752_48026754del	(Likely) pathogenic	1 lab	b8c0f8f730
17:41246868 BRCA1 TCA>T	17	41246868	41246872	TCA	T	BRCA1	c.678_679del	NM_007294.4	NP_009225.1:p.(Cys226Ter)	NC_000017.10:g.41246871_41246872del	(Likely) pathogenic	1 lab	b8d9284b48
4:5800397 EVC G>A	4	5800397	5800397	G	A	EVC	c.2182G>A	NM_153717.3	NP_714928.1:p.(Glu728Lys)	NC_000004.11:g.5800397G>A	VUS	1 lab	0219b52b6b
18:19154626 ESCO1 G>A	18	19154626	19154626	G	A	ESCO1	c.179C>T	NM_052911.3	NP_443143.2:p.(Pro60Leu)	NC_000018.9:g.19154626G>A	VUS	1 lab	021a5249c7
17:41228576 BRCA1 GC>G	17	41228576	41228578	GC	G	BRCA1	c.4412del	NM_007294.4	NP_009225.1:p.(Gly1471AlafsTer34)	NC_000017.10:g.41228578del	(Likely) pathogenic	1 lab	b90cb92751
17:7578413 TP53 C>A	17	7578413	7578413	C	A	TP53	c.517G>T	NM_000546.5	NP_000537.3:p.(Val173Leu)	NC_000017.10:g.7578413C>A	(Likely) pathogenic	1 lab	b96f1a9753
17:41245890 BRCA1 T>G	17	41245890	41245890	T	G	BRCA1	c.1658A>C	NM_007294.3	NP_009225.1:p.(His553Pro)	NC_000017.10:g.41245890T>G	(Likely) benign	1 lab	b9ad8668b4
2:219919989 IHH C>T	2	219919989	219919989	C	T	IHH	c.1176G>A	NM_002181.4	NP_002172.2:p.(Gly392=)	NC_000002.11:g.219919989C>T	VUS	1 lab	021c5660d6
17:41215448 BRCA1 GGAGAT>G	17	41215448	41215453	GGAGAT	G	BRCA1	c.5153-63_5153-59del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215449_41215453del	(Likely) benign	1 lab	b9ee571938
17:41231277 BRCA1 C>G	17	41231277	41231277	C	G	BRCA1	c.4358-2646G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41231277C>G	(Likely) benign	1 lab	b9fb146318
2:25523079 DNMT3A C>T	2	25523079	25523079	C	T	DNMT3A	c.106G>A	NM_022552.5	NP_072046.2:p.(Glu36Lys)	NC_000002.11:g.25523079C>T	(Likely) benign	1 lab	021c65e97b
17:56772207 RAD51C T>A	17	56772207	56772207	T	A	RAD51C	c.146-85T>A	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56772207T>A	(Likely) benign	1 lab	ba7bac16aa
9:32466309 RIGI G>C	9	32466309	32466309	G	C	RIGI	c.2316C>G	NM_014314.4	NP_055129.2:p.(Asp772Glu)	NC_000009.11:g.32466309G>C	(Likely) benign	1 lab	021ccf1618
11:108098401 ATM ATG>A	11	108098401	108098403	ATG	A	ATM	c.51_52del	NM_000051.4	NP_000042.3:p.(His17GlnfsTer2)	NC_000011.9:g.108098402_108098403del	(Likely) pathogenic	1 lab	bab023b5b5
17:59770923 BRIP1 C>A	17	59770923	59770923	C	A	BRIP1	c.2493-50G>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59770923C>A	(Likely) benign	1 lab	bad2080a41
19:10654991 ATG4D C>T	19	10654991	10654991	C	T	ATG4D	c.225C>T	NM_032885.6	NP_116274.3:p.(Asn75=)	NC_000019.9:g.10654991C>T	VUS	1 lab	024ddbb32b
6:157502271 ARID1B C>T	6	157502271	157502271	C	T	ARID1B	c.3673C>T	NM_001374828.1	NP_001361757.1:p.(Arg1225Ter)	NC_000006.11:g.157502271C>T	VUS	1 lab	021ce354d8
15:89400797 ACAN C>T	15	89400797	89400797	C	T	ACAN	c.4981C>T	NM_001369268.1	NP_001356197.1:p.(Leu1661=)	NC_000015.9:g.89400797C>T	(Likely) benign	1 lab	022189847e
13:32907070 BRCA2 GCA>G	13	32907070	32907072	GCA	G	BRCA2	c.1456_1457del	NM_000059.4	NP_000050.3:p.(Gln486GlyfsTer27)	NC_000013.10:g.32907071_32907072del	(Likely) pathogenic	1 lab	bb47270e0e
15:89402293 ACAN C>T	15	89402293	89402293	C	T	ACAN	c.6477C>T	NM_001369268.1	NP_001356197.1:p.(Gly2159=)	NC_000015.9:g.89402293C>T	(Likely) benign	1 lab	021d77a8f9
11:108225659 ATM TCA>CCG	11	108225659	108225661	TCA	CCG	ATM	c.8850+58_8850+60delinsCCG	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108225659_108225661delinsCCG	(Likely) benign	1 lab	bb7624bd47
17:59878498 BRIP1 C>G	17	59878498	59878498	C	G	BRIP1	c.1140+116G>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59878498C>G	(Likely) benign	1 lab	bb8c736e3a
6:31829220 NEU1 T>C	6	31829220	31829220	T	C	NEU1	c.360A>G	NM_000434.4	NP_000425.1:p.(Thr120=)	NC_000006.11:g.31829220T>C	VUS	1 lab	022055ef9d
2:48026426 MSH6 T>TGTACCACATG	2	48026426	48026437	T	TGTACCACATG	MSH6	c.1306_1315dup	NM_000179.2	NP_000170.1:p.(Asp439ValfsTer11)	NC_000002.11:g.48026428_48026437dup	(Likely) pathogenic	1 lab	bbc3244844
17:41245527 BRCA1 GGT>G	17	41245527	41245529	GGT	G	BRCA1	c.2019_2020del	NM_007294.4	NP_009225.1:p.(Glu673AspfsTer9)	NC_000017.10:g.41245528_41245529del	(Likely) pathogenic	1 lab	bc1257161a
19:39207939 ACTN4 G>A	19	39207939	39207939	G	A	ACTN4	c.1126G>A	NM_004924.6	NP_004915.2:p.(Glu376Lys)	NC_000019.9:g.39207939G>A	VUS	1 lab	02205c131a
11:108137899 ATM C>CATGA	11	108137899	108137902	C	CATGA	ATM	c.2470_2471insGAAT	NM_000051.3	NP_000042.3:p.(Ser824Ter)	NC_000011.9:g.108137901_108137902insGAAT	(Likely) pathogenic	1 lab	bc1723e2cf
6:85448223 TBX18 G>C	6	85448223	85448223	G	C	TBX18	c.1091C>G	NM_001080508.3	NP_001073977.1:p.(Pro364Arg)	NC_000006.11:g.85448223G>C	VUS	1 lab	0220bb542c
5:60628160 ZSWIM6 GGCGGCGGCGGCGGGGGCAGCA>G	5	60628160	60628194	GGCGGCGGCGGCGGGGGCAGCA	G	ZSWIM6	c.75_95del	NM_020928.2	NP_065979.1:p.(Ser27_Gly33del)	NC_000005.9:g.60628174_60628194del	VUS	1 lab	0220ef0195
17:41246517 BRCA1 GCA>G	17	41246517	41246519	GCA	G	BRCA1	c.1029_1030del	NM_007294.4	NP_009225.1:p.(Ala344Ter)	NC_000017.10:g.41246518_41246519del	(Likely) pathogenic	1 lab	bc8c802b11
2:48033705 MSH6 G>GCTAATCTCCCAGAGGAAGTTATT	2	48033705	48033729	G	GCTAATCTCCCAGAGGAAGTTATT	MSH6	c.3918_3940dup	NM_000179.3	NP_000170.1:p.(Gln1314LeufsTer21)	NC_000002.11:g.48033707_48033729dup	(Likely) pathogenic	1 lab	bd6d2843ae
4:187073152 FAM149A T>G	4	187073152	187073152	T	G	FAM149A	c.912T>G	NM_001395294.1	NP_001382223.1:p.(Ser304Arg)	NC_000004.11:g.187073152T>G	(Likely) benign	1 lab	0222c352b2
11:108117639 ATM G>C	11	108117639	108117639	G	C	ATM	c.902-52G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108117639G>C	(Likely) benign	1 lab	bd7da68ffe
17:41203002 BRCA1 G>A	17	41203002	41203002	G	A	BRCA1	c.5332+78C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203002G>A	(Likely) benign	1 lab	bd8fbf2897
3:37061870 MLH1 C>A	3	37061870	37061870	C	A	MLH1	c.954C>A	NM_000249.3	NP_000240.1:p.(His318Gln)	NC_000003.11:g.37061870C>A	VUS	1 lab	bda2a1e0db
1:248128983 OR2AK2 A>T	1	248128983	248128983	A	T	OR2AK2	c.305A>T	NM_001004491.2	NP_001004491.2:p.(Tyr102Phe)	NC_000001.10:g.248128983A>T	(Likely) benign	1 lab	022352bed0
12:110231363 TRPV4 G>C	12	110231363	110231363	G	C	TRPV4	c.1627C>G	NM_021625.5	NP_067638.3:p.(Leu543Val)	NC_000012.11:g.110231363G>C	VUS	1 lab	0224f529bc
17:41246341 BRCA1 ACT>A	17	41246341	41246344	ACT	A	BRCA1	c.1205_1206del	NM_007294.4	NP_009225.1:p.(Glu402ValfsTer2)	NC_000017.10:g.41246343_41246344del	(Likely) pathogenic	1 lab	be4a8c2c3a
16:89703774 DPEP1 G>T	16	89703774	89703774	G	T	DPEP1	c.754G>T	NM_001389466.1	NP_001376395.1:p.(Val252Phe)	NC_000016.9:g.89703774G>T	VUS	1 lab	02257822a8
13:32972254 BRCA2 G>C	13	32972254	32972254	G	C	BRCA2	c.9649-45G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972254G>C	(Likely) benign	1 lab	bf45e3b229
1:200610295 DDX59 A>G	1	200610295	200610295	A	G	DDX59	c.1686T>C	NM_001320181.1	NP_001307110.1:p.(Asn562=)	NC_000001.10:g.200610295A>G	VUS	1 lab	1794b83726
7:124469439 POT1 T>C	7	124469439	124469439	T	C	POT1	c.1506-43A>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124469439T>C	(Likely) benign	1 lab	bf6105fa83
X:148577975 IDS G>A	X	148577975	148577975	G	A	IDS	c.781C>T	NM_000202.8	NP_000193.1:p.(Pro261Ser)	NC_000023.10:g.148577975G>A	VUS	1 lab	0227d96b42
6:116579992 DSE G>C	6	116579992	116579992	G	C	DSE				NC_000006.11:g.116579992G>C	(Likely) benign	1 lab	3876a6db5f
11:108100098 ATM C>T	11	108100098	108100098	C	T	ATM	c.331+48C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108100098C>T	(Likely) benign	1 lab	bf9fa6fe33
16:1633324 IFT140 G>GTT	16	1633324	1633326	G	GTT	IFT140	c.1422_1423insAA	NM_014714.4	NP_055529.2:p.(Arg475AsnfsTer14)	NC_000016.9:g.1633325_1633326insTT	(Likely) pathogenic	1 lab	0228079c33
10:89623636 PTEN G>A	10	89623636	89623636	G	A	PTEN	c.-591G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623636G>A	(Likely) benign	1 lab	bfdaa2f9f0
11:108160373 ATM T>C	11	108160373	108160373	T	C	ATM	c.4281T>C	NM_000051.3	NP_000042.3:p.(Ala1427=)	NC_000011.9:g.108160373T>C	(Likely) benign	1 lab	c0011385a9
13:32913035 BRCA2 A>T	13	32913035	32913035	A	T	BRCA2	c.4543A>T	NM_000059.3	NP_000050.2:p.(Lys1515Ter)	NC_000013.10:g.32913035A>T	(Likely) pathogenic	1 lab	c017103e78
11:108199710 ATM T>G	11	108199710	108199710	T	G	ATM	c.7090-38T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108199710T>G	(Likely) benign	1 lab	c0c05aaa42
13:32912403 BRCA2 CTT>C	13	32912403	32912407	CTT	C	BRCA2	c.3914_3915del	NM_000059.4	NP_000050.3:p.(Phe1305CysfsTer2)	NC_000013.10:g.32912406_32912407del	(Likely) pathogenic	1 lab	c0d2b987cb
16:23641096 PALB2 G>C	16	23641096	23641096	G	C	PALB2	c.2379C>G	NM_024675.3	NP_078951.2:p.(Gly793=)	NC_000016.9:g.23641096G>C	(Likely) benign	1 lab	c0dbff9d47
2:47702533 MSH2 A>G	2	47702533	47702533	A	G	MSH2	c.2005+124A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702533A>G	(Likely) benign	1 lab	c1c5170008
2:215632484 BARD1 AATTT>A	2	215632484	215632491	AATTT	A	BARD1	c.1396-110_1396-107del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632488_215632491del	(Likely) benign	1 lab	c0e279a78c
7:5531023 FBXL18 G>A	7	5531023	5531023	G	A	FBXL18	c.1839C>T	NM_024963.6	NP_079239.3:p.(Cys613=)	NC_000007.13:g.5531023G>A	(Likely) benign	1 lab	02284bb3e3
17:59924634 BRIP1 C>G	17	59924634	59924634	C	G	BRIP1	c.508-53G>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59924634C>G	(Likely) benign	1 lab	c0f6083142
2:47656813 MSH2 G>A	2	47656813	47656813	G	A	MSH2	c.1077-68G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47656813G>A	(Likely) benign	1 lab	c12d333716
11:108165764 ATM GGA>G	11	108165764	108165766	GGA	G	ATM	c.4888_4889del	NM_000051.4	NP_000042.3:p.(Asp1630HisfsTer8)	NC_000011.9:g.108165765_108165766del	(Likely) pathogenic	1 lab	c134a9ce2d
22:29130300 CHEK2 C>T	22	29130300	29130300	C	T	CHEK2	c.319+91G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29130300C>T	(Likely) benign	1 lab	c137bac072
1:193111227 CDC73 GTGA>G	1	193111227	193111230	GTGA	G	CDC73	c.729+32_729+34del	NM_024529.5	NP_078805.3:p.?	NC_000001.10:g.193111228_193111230del	(Likely) benign	1 lab	c13d6045be
7:21621521 DNAH11 A>G	7	21621521	21621521	A	G	DNAH11	c.1594-2A>G	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21621521A>G	VUS	1 lab	0228eef84b
10:50681585 ERCC6 G>A	10	50681585	50681585	G	A	ERCC6	c.2647C>T	NM_000124.4	NP_000115.1:p.(Leu883Phe)	NC_000010.10:g.50681585G>A	VUS	1 lab	0229062aad
13:32929079 BRCA2 TGA>T	13	32929079	32929081	TGA	T	BRCA2	c.7090_7091del	NM_000059.4	NP_000050.3:p.(Glu2364ThrfsTer27)	NC_000013.10:g.32929080_32929081del	VUS	1 lab	c15b6bec75
17:6337417 AIPL1 A>G	17	6337417	6337417	A	G	AIPL1	c.98T>C	NM_014336.5	NP_055151.3:p.(Val33Ala)	NC_000017.10:g.6337417A>G	VUS	1 lab	0229362084
6:73787062 KCNQ5 G>A	6	73787062	73787062	G	A	KCNQ5	c.634G>A	NM_019842.4	NP_062816.2:p.(Ala212Thr)	NC_000006.11:g.73787062G>A	VUS	1 lab	0229ed57b1
1:16258503 SPEN C>T	1	16258503	16258503	C	T	SPEN	c.5768C>T	NM_015001.3	NP_055816.2:p.(Pro1923Leu)	NC_000001.10:g.16258503C>T	(Likely) benign	1 lab	022edb95ad
22:29091225 CHEK2 CTA>C	22	29091225	29091227	CTA	C	CHEK2	c.1263_1264del	NM_007194.4	NP_009125.1:p.(Ser422TrpfsTer7)	NC_000022.10:g.29091226_29091227del	(Likely) pathogenic	1 lab	c1ad9a8241
15:42681236 CAPN3 T>G	15	42681236	42681236	T	G	CAPN3	c.743T>G	NM_000070.3	NP_000061.1:p.(Met248Arg)	NC_000015.9:g.42681236T>G	(Likely) pathogenic	1 lab	022f002a91
22:21343718 LZTR1 C>T	22	21343718	21343718	C	T	LZTR1	c.594-196C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21343718C>T	(Likely) benign	1 lab	c1da64d353
13:32971235 BRCA2 G>A	13	32971235	32971235	G	A	BRCA2	c.9648+54G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971235G>A	(Likely) benign	1 lab	c1e2e0af8f
17:7577117 TP53 A>C	17	7577117	7577117	A	C	TP53	c.821T>G	NM_000546.6	NP_000537.3:p.(Val274Gly)	NC_000017.10:g.7577117A>C	(Likely) pathogenic	1 lab	c1f5a9747f
17:41245585 BRCA1 ACT>A	17	41245585	41245587	ACT	A	BRCA1	c.1961_1962del	NM_007294.4	NP_009225.1:p.(Lys654IlefsTer18)	NC_000017.10:g.41245586_41245587del	(Likely) pathogenic	1 lab	c23394cb1a
11:108137953 ATM A>C	11	108137953	108137953	A	C	ATM	c.2522A>C	NM_000051.3	NP_000042.3:p.(Asp841Ala)	NC_000011.9:g.108137953A>C	(Likely) benign	1 lab	c23a6bb2ea
X:100746671 ARMCX4 T>C	X	100746671	100746671	T	C	ARMCX4	c.3095T>C	NM_001256155.3	NP_001243084.2:p.(Ile1032Thr)	NC_000023.10:g.100746671T>C	(Likely) benign	1 lab	023050600a
2:157185870 NR4A2 C>T	2	157185870	157185870	C	T	NR4A2	c.829G>A	NM_006186.4	NP_006177.1:p.(Val277Met)	NC_000002.11:g.157185870C>T	VUS	1 lab	0230a18fb1
11:108203423 ATM T>G	11	108203423	108203423	T	G	ATM	c.7789-66T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108203423T>G	(Likely) benign	1 lab	c277a393e2
1:241669538 FH T>G	1	241669538	241669538	T	G	FH	c.739-70A>C	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241669538T>G	(Likely) benign	1 lab	c28e053a86
6:7565650 DSP C>T	6	7565650	7565650	C	T	DSP	c.836C>T	NM_004415.4	NP_004406.2:p.(Thr279Met)	NC_000006.11:g.7565650C>T	VUS	1 lab	023126e810
11:108160407 ATM C>A	11	108160407	108160407	C	A	ATM	c.4315C>A	NM_000051.4	NP_000042.3:p.(Leu1439Ile)	NC_000011.9:g.108160407C>A	(Likely) benign	1 lab	c2c382ca25
17:59760869 BRIP1 CTACT>C	17	59760869	59760874	CTACT	C	BRIP1	c.3534_3537del	NM_032043.3	NP_114432.2:p.(Val1179IlefsTer6)	NC_000017.10:g.59760871_59760874del	VUS	1 lab	c30a6537fd
5:156991411 ADAM19 C>T	5	156991411	156991411	C	T	ADAM19	c.221G>A	NM_033274.5	NP_150377.1:p.(Arg74Gln)	NC_000005.9:g.156991411C>T	VUS	1 lab	02318171c4
22:29130380 CHEK2 A>C	22	29130380	29130380	A	C	CHEK2	c.319+11T>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29130380A>C	(Likely) benign	1 lab	c3282b0ba9
2:48023127 MSH6 T>C	2	48023127	48023127	T	C	MSH6	c.552T>C	NM_000179.2	NP_000170.1:p.(Asn184=)	NC_000002.11:g.48023127T>C	(Likely) benign	1 lab	c333bd02bb
3:37092065 MLH1 CTAA>C	3	37092065	37092068	CTAA	C	MLH1	c.2193_2195del	NM_000249.4	NP_000240.1:p.(Lys732del)	NC_000003.11:g.37092066_37092068del	(Likely) pathogenic	1 lab	c3986cba6b
17:40695144 NAGLU C>T	17	40695144	40695144	C	T	NAGLU	c.1120C>T	NM_000263.4	NP_000254.2:p.(Pro374Ser)	NC_000017.10:g.40695144C>T	VUS	1 lab	0232cbb3e9
17:33434054 RAD51D G>A	17	33434054	33434054	G	A	RAD51D	c.433C>T	NM_002878.3	NP_002869.3:p.(Arg145Cys)	NC_000017.10:g.33434054G>A	VUS	1 lab	c3c23b4f05
11:108195975 ATM AGTTT>A	11	108195975	108195979	AGTTT	A	ATM	c.6573-61_6573-58del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195976_108195979del	(Likely) benign	1 lab	c413220721
17:56769986 RAD51C G>A	17	56769986	56769986	G	A	RAD51C	c.-19G>A	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56769986G>A	(Likely) benign	1 lab	c566f0745e
17:41243612 BRCA1 GGTGTT>G	17	41243612	41243617	GGTGTT	G	BRCA1	c.3931_3935del	NM_007294.4	NP_009225.1:p.(Asn1311ProfsTer17)	NC_000017.10:g.41243613_41243617del	(Likely) pathogenic	1 lab	c42952d1d8
11:108151767 ATM AGAAAAT>A	11	108151767	108151773	AGAAAAT	A	ATM	c.3449_3454del	NM_000051.4	NP_000042.3:p.(Arg1150_Ser1152delinsThr)	NC_000011.9:g.108151768_108151773del	(Likely) pathogenic	1 lab	c4382aa810
17:56769957 TEX14 G>T	17	56769957	56769957	G	T	TEX14				NC_000017.10:g.56769957G>T	(Likely) benign	1 lab	c46865b59c
3:37042592 MLH1 A>T	3	37042592	37042592	A	T	MLH1	c.306+48A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37042592A>T	(Likely) benign	1 lab	c46fa340c2
11:108137966 ATM T>G	11	108137966	108137966	T	G	ATM	c.2535T>G	NM_000051.4	NP_000042.3:p.(Asn845Lys)	NC_000011.9:g.108137966T>G	(Likely) benign	1 lab	c470e0b151
19:5119429 KDM4B CCGT>C	19	5119429	5119432	CCGT	C	KDM4B	c.1116-234_1116-232del	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5119430_5119432del	(Likely) benign	1 lab	02350e3f10
3:46000898 FYCO1 G>A	3	46000898	46000898	G	A	FYCO1	c.3574C>T	NM_024513.4	NP_078789.2:p.(Arg1192Trp)	NC_000003.11:g.46000898G>A	VUS	1 lab	023533406c
17:7577407 TP53 A>C	17	7577407	7577407	A	C	TP53	c.782+92T>G	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577407A>C	(Likely) benign	1 lab	c49a9ad31c
16:3828818 CREBBP G>C	16	3828818	3828818	G	C	CREBBP	c.1824C>G	NM_004380.3	NP_004371.2:p.(Leu608=)	NC_000016.9:g.3828818G>C	(Likely) benign	1 lab	02359402cc
16:1637271 IFT140 G>C	16	1637271	1637271	G	C	IFT140	c.937C>G	NM_014714.4	NP_055529.2:p.(Leu313Val)	NC_000016.9:g.1637271G>C	VUS	1 lab	0899dd1fba
13:32893304 BRCA2 AAAAC>A	13	32893304	32893310	AAAAC	A	BRCA2	c.161_164del	NM_000059.4	NP_000050.3:p.(Asn54ThrfsTer25)	NC_000013.10:g.32893307_32893310del	(Likely) benign	1 lab	c4bbb07a41
9:21971113 CDKN2A ACGGGTCGGGTGAGAGTGGCG>A	9	21971113	21971133	ACGGGTCGGGTGAGAGTGGCG	A	CDKN2A	c.225_244del	NM_000077.5	NP_000068.1:p.(Thr77ArgfsTer36)	NC_000009.11:g.21971114_21971133del	(Likely) pathogenic	1 lab	c4d87ef05f
17:33486541 UNC45B G>A	17	33486541	33486541	G	A	UNC45B	c.956G>A	NM_001267052.2	NP_001253981.1:p.(Arg319His)	NC_000017.10:g.33486541G>A	VUS	1 lab	0236f92514
17:41243687 BRCA1 CTCA>C	17	41243687	41243690	CTCA	C	BRCA1	c.3858_3860del	NM_007294.4	NP_009225.1:p.(Ser1286_Glu1287delinsArg)	NC_000017.10:g.41243688_41243690del	(Likely) pathogenic	1 lab	c4f5a5a3b8
13:32968978 BRCA2 A>G	13	32968978	32968978	A	G	BRCA2	c.9409A>G	NM_000059.3	NP_000050.2:p.(Thr3137Ala)	NC_000013.10:g.32968978A>G	(Likely) benign	1 lab	c55aa0833f
19:50916643 POLD1 GC>TT	19	50916643	50916644	GC	TT	POLD1	c.2155-40_2155-39delinsTT	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50916643_50916644delinsTT	(Likely) benign	1 lab	c5793507de
13:32968996 BRCA2 T>G	13	32968996	32968996	T	G	BRCA2	c.9427T>G	NM_000059.3	NP_000050.2:p.(Phe3143Val)	NC_000013.10:g.32968996T>G	(Likely) benign	1 lab	c58bb4e966
13:32912314 BRCA2 G>A	13	32912314	32912314	G	A	BRCA2	c.3822G>A	NM_000059.3	NP_000050.2:p.(Lys1274=)	NC_000013.10:g.32912314G>A	(Likely) benign	1 lab	c59ac366b4
19:622247 POLRMT G>A	19	622247	622247	G	A	POLRMT	c.1753C>T	NM_005035.4	NP_005026.3:p.(Gln585Ter)	NC_000019.9:g.622247G>A	VUS	1 lab	023fd719ef
3:37067095 MLH1 ATA>TTT	3	37067095	37067097	ATA	TTT	MLH1	c.1039-33_1039-31delinsTTT	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067095_37067097delinsTTT	(Likely) benign	1 lab	c5c1f1d502
2:48027028 MSH6 A>ACT	2	48027028	48027033	A	ACT	MSH6	c.1910_1911dup	NM_000179.2	NP_000170.1:p.(Leu638SerfsTer11)	NC_000002.11:g.48027032_48027033dup	(Likely) pathogenic	1 lab	c5e7777b41
1:183097826 LAMC1 G>C	1	183097826	183097826	G	C	LAMC1	c.3221G>C	NM_002293.4	NP_002284.3:p.(Arg1074Thr)	NC_000001.10:g.183097826G>C	VUS	1 lab	0240ac2d3d
17:33446782 RAD51D C>A	17	33446782	33446782	C	A	RAD51D	c.-150G>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446782C>A	(Likely) benign	1 lab	c60d153520
17:41244352 BRCA1 C>A	17	41244352	41244352	C	A	BRCA1	c.3196G>T	NM_007294.3	NP_009225.1:p.(Glu1066Ter)	NC_000017.10:g.41244352C>A	(Likely) pathogenic	1 lab	c62cbebbfe
17:59853967 BRIP1 G>T	17	59853967	59853967	G	T	BRIP1	c.1936-44C>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59853967G>T	(Likely) benign	1 lab	c63887b2ac
12:88443087 RLIG1 A>ATTC	12	88443087	88443096	A	ATTC	RLIG1	c.*895_*897dup	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443094_88443096dup	VUS	1 lab	0240e5ffcc
11:108205644 ATM A>C	11	108205644	108205644	A	C	ATM	c.8011-52A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205644A>C	(Likely) benign	1 lab	c667dad106
17:41247918 BRCA1 T>C	17	41247918	41247918	T	C	BRCA1	c.615A>G	NM_007294.3	NP_009225.1:p.(Leu205=)	NC_000017.10:g.41247918T>C	(Likely) benign	1 lab	c69df96f72
11:108119678 ATM A>G	11	108119678	108119678	A	G	ATM	c.1084A>G	NM_000051.3	NP_000042.3:p.(Arg362Gly)	NC_000011.9:g.108119678A>G	VUS	1 lab	c6c0a432aa
11:108202391 ATM T>G	11	108202391	108202391	T	G	ATM	c.7629+107T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202391T>G	(Likely) benign	1 lab	c6d29652f6
2:219922342 IHH G>C	2	219922342	219922342	G	C	IHH	c.390C>G	NM_002181.4	NP_002172.2:p.(Thr130=)	NC_000002.11:g.219922342G>C	(Likely) benign	1 lab	0241e58280
13:32910829 BRCA2 G>T	13	32910829	32910829	G	T	BRCA2	c.2337G>T	NM_000059.3	NP_000050.2:p.(Leu779=)	NC_000013.10:g.32910829G>T	(Likely) benign	1 lab	c71352270a
13:32969012 BRCA2 CTA>C	13	32969012	32969014	CTA	C	BRCA2	c.9444_9445del	NM_000059.4	NP_000050.3:p.(Pro3150LysfsTer17)	NC_000013.10:g.32969013_32969014del	(Likely) pathogenic	1 lab	c73b459415
4:128748500 HSPA4L A>C	4	128748500	128748500	A	C	HSPA4L	c.2087A>C	NM_014278.4	NP_055093.2:p.(Glu696Ala)	NC_000004.11:g.128748500A>C	(Likely) benign	1 lab	0243d5fe44
8:110451125 PKHD1L1 G>A	8	110451125	110451125	G	A	PKHD1L1	c.3761-1G>A	NM_177531.6	NP_803875.2:p.?	NC_000008.10:g.110451125G>A	VUS	1 lab	089cab2763
11:108202416 ATM C>A	11	108202416	108202416	C	A	ATM	c.7629+132C>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202416C>A	(Likely) benign	1 lab	c7688c1bf6
6:89891741 MISSING G>A	6	89891741	89891741	G	A	MISSING				NC_000006.11:g.89891741G>A	VUS	1 lab	ecf2e7dc98
1:45799988 MUTYH C>T	1	45799988	45799988	C	T	MUTYH	c.157+75G>A	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45799988C>T	(Likely) benign	1 lab	c7e6105de6
13:32912828 BRCA2 A>G	13	32912828	32912828	A	G	BRCA2	c.4336A>G	NM_000059.3	NP_000050.2:p.(Ile1446Val)	NC_000013.10:g.32912828A>G	(Likely) benign	1 lab	c821cfc4e5
13:32937779 BRCA2 G>A	13	32937779	32937779	G	A	BRCA2	c.8331+109G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937779G>A	(Likely) benign	1 lab	c85a2331b7
1:39549962 MACF1 A>AGTGAGCGG	1	39549962	39549963	A	AGTGAGCGG	MACF1	c.72_73insGTGAGCGG	NM_012090.4	NP_036222.3:p.(Ser25ValfsTer71)	NC_000001.10:g.39549962_39549963insGTGAGCGG	VUS	1 lab	19eafd6484
X:2707744 XG G>A	X	2707744	2707744	G	A	XG	c.250G>A	NM_001141919.2	NP_001135391.1:p.(Gly84Arg)	NC_000023.10:g.2707744G>A	(Likely) benign	1 lab	02458198f2
17:41245648 BRCA1 G>C	17	41245648	41245648	G	C	BRCA1	c.1900C>G	NM_007294.3	NP_009225.1:p.(Pro634Ala)	NC_000017.10:g.41245648G>C	(Likely) benign	1 lab	c8db248e27
11:108183412 ATM GACT>G	11	108183412	108183415	GACT	G	ATM	c.6006+188_6006+190del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108183413_108183415del	(Likely) benign	1 lab	c8dba8a339
10:71052111 HK1 G>A	10	71052111	71052111	G	A	HK1	c.28-3278G>A	NM_001322364.1	NP_001309293.1:p.?	NC_000010.10:g.71052111G>A	(Likely) benign	1 lab	1a397caeb2
17:41245499 BRCA1 C>T	17	41245499	41245499	C	T	BRCA1	c.2049G>A	NM_007294.3	NP_009225.1:p.(Lys683=)	NC_000017.10:g.41245499C>T	(Likely) benign	1 lab	c941502128
17:56811577 RAD51C A>C	17	56811577	56811577	A	C	RAD51C	c.1125A>C	NM_058216.1	NP_478123.1:p.(Glu375Asp)	NC_000017.10:g.56811577A>C	(Likely) benign	1 lab	c94f4c7e73
2:215593571 BARD1 T>C	2	215593571	215593571	T	C	BARD1	c.2163A>G	NM_000465.4	NP_000456.2:p.(Ala721=)	NC_000002.11:g.215593571T>C	(Likely) benign	1 lab	c957426b79
2:215645501 BARD1 GGTGGTGAAGAACATTCAGGCAA>G	2	215645501	215645523	GGTGGTGAAGAACATTCAGGCAA	G	BARD1	c.1075_1096del	NM_000465.4	NP_000456.2:p.(Pro360HisfsTer33)	NC_000002.11:g.215645502_215645523del	(Likely) benign	1 lab	c999a711d5
3:37048742 MLH1 C>T	3	37048742	37048742	C	T	MLH1	c.453+188C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048742C>T	(Likely) benign	1 lab	c99a2b034a
13:32968813 BRCA2 T>G	13	32968813	32968813	T	G	BRCA2	c.9257-13T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32968813T>G	(Likely) benign	1 lab	c9c4cd77a7
3:25215988 RARB G>A	3	25215988	25215988	G	A	RARB	c.100G>A	NM_001290216.1	NP_001277145.1:p.(Gly34Arg)	NC_000003.11:g.25215988G>A	VUS	1 lab	1a4a0f2e5e
13:32950771 BRCA2 C>T	13	32950771	32950771	C	T	BRCA2	c.8633-36C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32950771C>T	(Likely) benign	1 lab	ca2c0a2b39
11:108154781 ATM T>C	11	108154781	108154781	T	C	ATM	c.3747-173T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108154781T>C	(Likely) benign	1 lab	ca9f3870bd
13:32912963 BRCA2 CTGAAA>C	13	32912963	32912968	CTGAAA	C	BRCA2	c.4472_4476del	NM_000059.4	NP_000050.3:p.(Leu1491ArgfsTer21)	NC_000013.10:g.32912964_32912968del	(Likely) pathogenic	1 lab	cad652d74c
4:128565098 INTU A>C	4	128565098	128565098	A	C	INTU	c.569A>C	NM_015693.4	NP_056508.2:p.(His190Pro)	NC_000004.11:g.128565098A>C	VUS	1 lab	0246eccabf
2:47612427 EPCAM ATG>A	2	47612427	47612429	ATG	A	EPCAM	c.903+79_903+80del	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47612428_47612429del	(Likely) benign	1 lab	caf14439d7
15:77067338 SCAPER C>T	15	77067338	77067338	C	T	SCAPER	c.893G>A	NM_020843.4	NP_065894.2:p.(Ser298Asn)	NC_000015.9:g.77067338C>T	(Likely) benign	1 lab	02475b6456
12:51901206 SLC4A8 T>G	12	51901206	51901206	T	G	SLC4A8	c.3270-4T>G	NM_001039960.3	NP_001035049.1:p.?	NC_000012.11:g.51901206T>G	VUS	1 lab	02476cd8c7
1:230193833 GALNT2 G>A	1	230193833	230193833	G	A	GALNT2	c.12+8G>A	NM_001291866.1	NP_001278795.1:p.?	NC_000001.10:g.230193833G>A	(Likely) benign	1 lab	1ab0e92c42
11:108143552 ATM G>A	11	108143552	108143552	G	A	ATM	c.3257G>A	NM_000051.3	NP_000042.3:p.(Arg1086His)	NC_000011.9:g.108143552G>A	(Likely) benign	1 lab	cb621a751a
2:158622779 ACVR1 C>A	2	158622779	158622779	C	A	ACVR1	c.791-71G>T	NM_001111067.4	NP_001104537.1:p.?	NC_000002.11:g.158622779C>A	(Likely) benign	1 lab	02480b7fd0
4:6303185 WFS1 G>C	4	6303185	6303185	G	C	WFS1	c.1663G>C	NM_006005.3	NP_005996.2:p.(Gly555Arg)	NC_000004.11:g.6303185G>C	VUS	1 lab	0248b01383
12:121434354 HNF1A C>G	12	121434354	121434354	C	G	HNF1A	c.1118C>G	NM_000545.8	NP_000536.6:p.(Ala373Gly)	NC_000012.11:g.121434354C>G	(Likely) pathogenic	1 lab	0248d272ce
11:108124746 ATM C>A	11	108124746	108124746	C	A	ATM	c.2104C>A	NM_000051.4	NP_000042.3:p.(Leu702Met)	NC_000011.9:g.108124746C>A	VUS	1 lab	cbc9cd9d6a
4:96052494 BMPR1B A>C	4	96052494	96052494	A	C	BMPR1B	c.907A>C	NM_001203.3	NP_001194.1:p.(Lys303Gln)	NC_000004.11:g.96052494A>C	VUS	1 lab	02492d6805
2:48025813 MSH6 G>C	2	48025813	48025813	G	C	MSH6	c.691G>C	NM_000179.3	NP_000170.1:p.(Val231Leu)	NC_000002.11:g.48025813G>C	(Likely) benign	1 lab	cd9d082ca2
X:16965163 REPS2 C>T	X	16965163	16965163	C	T	REPS2	c.179C>T	NM_004726.3	NP_004717.2:p.(Ala60Val)	NC_000023.10:g.16965163C>T	(Likely) benign	1 lab	024afc75fa
11:108155333 ATM A>G	11	108155333	108155333	A	G	ATM	c.3993+133A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155333A>G	(Likely) benign	1 lab	cc396fa6cd
10:112771368 SHOC2 G>T	10	112771368	112771368	G	T	SHOC2	c.1541G>T	NM_007373.4	NP_031399.2:p.(Gly514Val)	NC_000010.10:g.112771368G>T	VUS	1 lab	024c2c6aa7
17:7578115 TP53 T>C	17	7578115	7578115	T	C	TP53	c.672+62A>G	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7578115T>C	(Likely) benign	1 lab	cc88408393
16:23647355 PALB2 AATC>A	16	23647355	23647358	AATC	A	PALB2	c.509_511del	NM_024675.4	NP_078951.2:p.(Arg170_Leu171delinsMet)	NC_000016.9:g.23647356_23647358del	(Likely) pathogenic	1 lab	cc9a5d0d29
X:70689447 TAF1 C>T	X	70689447	70689447	C	T	TAF1	n.5637+8794C>T	NR_104387.1		NC_000023.10:g.70689447C>T	(Likely) benign	1 lab	1ac5b9ca69
1:214557015 PTPN14 C>T	1	214557015	214557015	C	T	PTPN14	c.2183G>A	NM_005401.5	NP_005392.2:p.(Arg728Gln)	NC_000001.10:g.214557015C>T	VUS	1 lab	024c58678d
17:42335509 SLC4A1 C>T	17	42335509	42335509	C	T	SLC4A1	c.1127G>A	NM_000342.4	NP_000333.1:p.(Gly376Asp)	NC_000017.10:g.42335509C>T	VUS	1 lab	024cd962de
11:108196709 ATM TTTCA>T	11	108196709	108196715	TTTCA	T	ATM	c.6808-73_6808-70del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196712_108196715del	(Likely) benign	1 lab	ccd1626c82
7:6035081 PMS2 G>A	7	6035081	6035081	G	A	PMS2	c.903+84C>T	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6035081G>A	(Likely) benign	1 lab	cd24136fa1
3:37042483 MLH1 C>T	3	37042483	37042483	C	T	MLH1	c.245C>T	NM_000249.3	NP_000240.1:p.(Thr82Ile)	NC_000003.11:g.37042483C>T	(Likely) pathogenic	1 lab	cd4aaa62cf
11:111963776 SDHD G>T	11	111963776	111963776	G	T	SDHD	c.315-28G>T	NM_001276506.2	NP_001263435.1:p.?	NC_000011.9:g.111963776G>T	(Likely) benign	1 lab	cd5ef2697f
11:108121410 ATM C>CTTT	11	108121410	108121425	C	CTTT	ATM	c.1236-5_1236-3dup	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108121423_108121425dup	(Likely) benign	1 lab	cd63e4bc96
14:92470497 TRIP11 C>T	14	92470497	92470497	C	T	TRIP11	c.3823G>A	NM_004239.4	NP_004230.2:p.(Glu1275Lys)	NC_000014.8:g.92470497C>T	VUS	1 lab	02509a3033
10:89720631 PTEN TTC>T	10	89720631	89720634	TTC	T	PTEN	c.802-18_802-17del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720633_89720634del	(Likely) benign	1 lab	cd9f840e80
2:48032739 MSH6 GAT>G	2	48032739	48032741	GAT	G	MSH6	c.3557-17_3557-16del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032740_48032741del	(Likely) benign	1 lab	cda52e3a56
17:33428159 RAD51D T>C	17	33428159	33428159	T	C	RAD51D	c.903+61A>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33428159T>C	(Likely) benign	1 lab	cdd620001a
4:88766197 MEPE A>G	4	88766197	88766197	A	G	MEPE	c.177A>G	NM_020203.6	NP_064588.1:p.(Ser59=)	NC_000004.11:g.88766197A>G	VUS	1 lab	025250b5fa
16:89346589 ANKRD11 C>A	16	89346589	89346589	C	A	ANKRD11	c.6361G>T	NM_013275.6	NP_037407.4:p.(Ala2121Ser)	NC_000016.9:g.89346589C>A	VUS	1 lab	02525b1ed7
8:6302633 MCPH1 G>A	8	6302633	6302633	G	A	MCPH1	c.1390G>A	NM_024596.5	NP_078872.3:p.(Val464Ile)	NC_000008.10:g.6302633G>A	(Likely) benign	1 lab	0253bb8f50
6:10419676 TFAP2A A>G	6	10419676	10419676	A	G	TFAP2A	c.8T>C	NM_001042425.1	NP_001035890.1:p.(Ile3Thr)	NC_000006.11:g.10419676A>G	VUS	1 lab	1bc02d2f19
16:2550422 TBC1D24 C>T	16	2550422	2550422	C	T	TBC1D24	c.1456C>T	NM_001199107.2	NP_001186036.1:p.(Arg486Cys)	NC_000016.9:g.2550422C>T	VUS	1 lab	02541be90d
2:215609970 BARD1 G>C	2	215609970	215609970	G	C	BARD1	c.1811-87C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215609970G>C	(Likely) benign	1 lab	ceac09b40a
19:11107035 SMARCA4 A>G	19	11107035	11107035	A	G	SMARCA4				NC_000019.9:g.11107035A>G	(Likely) benign	1 lab	cebc0afec7
17:41256400 BRCA1 TAC>T	17	41256400	41256402	TAC	T	BRCA1	c.302-124_302-123del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256401_41256402del	(Likely) benign	1 lab	cec82f6f98
17:29422454 NF1 G>A	17	29422454	29422454	G	A	NF1	c.60+67G>A	NM_001042492.2	NP_001035957.1:p.?	NC_000017.10:g.29422454G>A	(Likely) benign	1 lab	cecb2693d1
19:41133759 LTBP4 G>C	19	41133759	41133759	G	C	LTBP4	c.4516G>C	NM_001042545.2	NP_001036010.1:p.(Val1506Leu)	NC_000019.9:g.41133759G>C	(Likely) benign	1 lab	02549e63b3
17:33428258 RAD51D C>G	17	33428258	33428258	C	G	RAD51D	c.865G>C	NM_002878.3	NP_002869.3:p.(Gly289Arg)	NC_000017.10:g.33428258C>G	(Likely) benign	1 lab	ceead5df3d
1:155837869 SYT11 A>G	1	155837869	155837869	A	G	SYT11	c.148A>G	NM_152280.5	NP_689493.3:p.(Asn50Asp)	NC_000001.10:g.155837869A>G	(Likely) benign	1 lab	025566aedb
11:108155201 ATM GTA>CTT	11	108155201	108155203	GTA	CTT	ATM	c.3993+1_3993+3delinsCTT	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155201_108155203delinsCTT	(Likely) pathogenic	1 lab	ceffe4e93d
13:32893673 BRCA2 C>T	13	32893673	32893673	C	T	BRCA2	c.316+211C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893673C>T	(Likely) benign	1 lab	cf0ac35d76
17:41215804 BRCA1 GCA>G	17	41215804	41215806	GCA	G	BRCA1	c.5152+85_5152+86del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215805_41215806del	(Likely) benign	1 lab	cf146859cd
X:140994365 MAGEC1 C>T	X	140994365	140994365	C	T	MAGEC1	c.1175C>T	NM_005462.5	NP_005453.2:p.(Ser392Phe)	NC_000023.10:g.140994365C>T	(Likely) benign	1 lab	025794023d
X:2779749 GYG2 C>T	X	2779749	2779749	C	T	GYG2	c.1024C>T	NM_001079855.2	NP_001073324.1:p.(Arg342Cys)	NC_000023.10:g.2779749C>T	(Likely) benign	1 lab	0257b861e2
11:86665974 FZD4 T>A	11	86665974	86665974	T	A	FZD4				NC_000011.9:g.86665974T>A	VUS	1 lab	84a470c444
11:108154841 ATM A>G	11	108154841	108154841	A	G	ATM	c.3747-113A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108154841A>G	(Likely) benign	1 lab	cf66dd141d
13:32930788 BRCA2 T>A	13	32930788	32930788	T	A	BRCA2	c.7617+42T>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930788T>A	(Likely) benign	1 lab	cf68c6f4cb
12:31244774 DDX11 G>T	12	31244774	31244774	G	T	DDX11	c.1211G>T	NM_030653.4	NP_085911.2:p.(Gly404Val)	NC_000012.11:g.31244774G>T	VUS	1 lab	02585f2a84
17:41256099 BRCA1 AAAAG>A	17	41256099	41256105	AAAAG	A	BRCA1	c.441+36_441+39del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256102_41256105del	(Likely) benign	1 lab	cffb08e538
3:33840375 PDCD6IP C>G	3	33840375	33840375	C	G	PDCD6IP	c.155C>G	NM_013374.6	NP_037506.2:p.(Ala52Gly)	NC_000003.11:g.33840375C>G	(Likely) benign	1 lab	02589dc314
X:44922962 KDM6A C>T	X	44922962	44922962	C	T	KDM6A	c.1979C>T	NM_001291415.2	NP_001278344.1:p.(Pro660Leu)	NC_000023.10:g.44922962C>T	VUS	1 lab	02596af2f6
8:77775972 ZFHX4 A>C	8	77775972	77775972	A	C	ZFHX4	c.10022A>C	NM_024721.5	NP_078997.4:p.(Gln3341Pro)	NC_000008.10:g.77775972A>C	(Likely) benign	1 lab	0259fdd4b5
2:48032152 MSH6 ACAG>A	2	48032152	48032155	ACAG	A	MSH6	c.3543_3545del	NM_000179.3	NP_000170.1:p.(Asp1181_Arg1182delinsGlu)	NC_000002.11:g.48032153_48032155del	(Likely) pathogenic	1 lab	d03d6464e3
22:29096015 CHEK2 G>A	22	29096015	29096015	G	A	CHEK2	c.909-90C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29096015G>A	(Likely) benign	1 lab	d0402cb4ba
17:33427842 RAD51D T>G	17	33427842	33427842	T	G	RAD51D	c.*130A>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33427842T>G	(Likely) benign	1 lab	d04ac1f508
17:7671254 DNAH2 C>T	17	7671254	7671254	C	T	DNAH2	c.3712C>T	NM_020877.5	NP_065928.2:p.(Arg1238Ter)	NC_000017.10:g.7671254C>T	VUS	1 lab	025b10427a
11:108186999 ATM G>A	11	108186999	108186999	G	A	ATM	c.6198+159G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186999G>A	(Likely) benign	1 lab	d06ba89d40
2:48030487 MSH6 A>C	2	48030487	48030487	A	C	MSH6	c.3173-72A>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48030487A>C	(Likely) benign	1 lab	d081478137
9:133569304 EXOSC2 C>T	9	133569304	133569304	C	T	EXOSC2	c.122+4C>T	NM_014285.7	NP_055100.2:p.?	NC_000009.11:g.133569304C>T	(Likely) benign	1 lab	025c1158e4
7:6026896 PMS2 G>A	7	6026896	6026896	G	A	PMS2	c.1500C>T	NM_000535.5	NP_000526.1:p.(Ser500=)	NC_000007.13:g.6026896G>A	(Likely) benign	1 lab	d0bbea5fbb
13:32945372 BRCA2 G>A	13	32945372	32945372	G	A	BRCA2	c.8632+135G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32945372G>A	VUS	1 lab	d0bf707d31
2:152566183 NEB A>T	2	152566183	152566183	A	T	NEB	c.1022T>A	NM_001164508.2	NP_001157980.2:p.(Val341Glu)	NC_000002.11:g.152566183A>T	(Likely) benign	1 lab	025cc5d817
17:41244219 BRCA1 T>G	17	41244219	41244219	T	G	BRCA1	c.3329A>C	NM_007294.4	NP_009225.1:p.(Lys1110Thr)	NC_000017.10:g.41244219T>G	(Likely) benign	1 lab	d192dfac94
3:37089153 MLH1 T>A	3	37089153	37089153	T	A	MLH1	c.1875T>A	NM_000249.4	NP_000240.1:p.(Tyr625Ter)	NC_000003.11:g.37089153T>A	(Likely) pathogenic	1 lab	d1b320ebd7
11:108129889 ATM T>G	11	108129889	108129889	T	G	ATM	c.2466+87T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129889T>G	(Likely) benign	1 lab	d1d8c4ca55
17:3916824 ZZEF1 C>T	17	3916824	3916824	C	T	ZZEF1	c.8498G>A	NM_015113.4	NP_055928.3:p.(Gly2833Asp)	NC_000017.10:g.3916824C>T	VUS	1 lab	0260996067
19:36212587 KMT2B G>C	19	36212587	36212587	G	C	KMT2B	c.2338G>C	NM_014727.3	NP_055542.1:p.(Val780Leu)	NC_000019.9:g.36212587G>C	(Likely) benign	1 lab	0263a2f9ee
10:122663638 WDR11 T>A	10	122663638	122663638	T	A	WDR11	c.3011T>A	NM_018117.12	NP_060587.8:p.(Leu1004Gln)	NC_000010.10:g.122663638T>A	VUS	1 lab	0264933be8
11:108202347 ATM A>G	11	108202347	108202347	A	G	ATM	c.7629+63A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202347A>G	(Likely) benign	1 lab	d2abd0dc4b
17:41228535 BRCA1 G>A	17	41228535	41228535	G	A	BRCA1	c.4454C>T	NM_007294.3	NP_009225.1:p.(Thr1485Ile)	NC_000017.10:g.41228535G>A	(Likely) benign	1 lab	d2e52cb21d
16:5125521 ALG1 G>A	16	5125521	5125521	G	A	ALG1	c.523G>A	NM_019109.5	NP_061982.3:p.(Val175Ile)	NC_000016.9:g.5125521G>A	VUS	1 lab	02662915b6
17:33430666 RAD51D C>G	17	33430666	33430666	C	G	RAD51D	c.577-103G>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430666C>G	(Likely) benign	1 lab	d36b7b0b27
13:32972732 BRCA2 A>C	13	32972732	32972732	A	C	BRCA2	c.10082A>C	NM_000059.3	NP_000050.2:p.(Gln3361Pro)	NC_000013.10:g.32972732A>C	(Likely) benign	1 lab	d39a151547
1:154540546 CHRNB2 C>T	1	154540546	154540546	C	T	CHRNB2	c.26C>T	NM_000748.3	NP_000739.1:p.(Ala9Val)	NC_000001.10:g.154540546C>T	(Likely) benign	1 lab	02663bce88
5:68840766 OCLN C>T	5	68840766	68840766	C	T	OCLN	c.1073C>T	NM_001205254.2	NP_001192183.1:p.(Ser358Leu)	NC_000005.9:g.68840766C>T	VUS	1 lab	0267b5cfc8
2:36583490 CRIM1 T>C	2	36583490	36583490	T	C	CRIM1	c.55T>C	NM_016441.3	NP_057525.1:p.(Ser19Pro)	NC_000002.11:g.36583490T>C	(Likely) benign	1 lab	0268649314
13:32914276 BRCA2 AAT>A	13	32914276	32914278	AAT	A	BRCA2	c.5785_5786del	NM_000059.4	NP_000050.3:p.(Ile1929PhefsTer4)	NC_000013.10:g.32914277_32914278del	(Likely) pathogenic	1 lab	d3d803e907
11:108202668 ATM A>C	11	108202668	108202668	A	C	ATM	c.7692A>C	NM_000051.4	NP_000042.3:p.(Ala2564=)	NC_000011.9:g.108202668A>C	(Likely) benign	1 lab	d43d2a2b51
16:30097560 TBX6 T>G	16	30097560	30097560	T	G	TBX6	c.1297A>C	NM_004608.4	NP_004599.2:p.(Lys433Gln)	NC_000016.9:g.30097560T>G	VUS	1 lab	0268f4cbd8
17:7132774 DVL2 G>A	17	7132774	7132774	G	A	DVL2	c.748-8C>T	NM_004422.3	NP_004413.1:p.?	NC_000017.10:g.7132774G>A	(Likely) benign	1 lab	02698ee2d5
3:37042527 MLH1 T>G	3	37042527	37042527	T	G	MLH1	c.289T>G	NM_000249.3	NP_000240.1:p.(Tyr97Asp)	NC_000003.11:g.37042527T>G	(Likely) pathogenic	1 lab	d496db1339
1:165738108 TMCO1 C>T	1	165738108	165738108	C	T	TMCO1	c.34G>A	NM_001256164.1	NP_001243093.1:p.(Val12Ile)	NC_000001.10:g.165738108C>T	(Likely) benign	1 lab	1c62a31a92
17:42427660 GRN G>C	17	42427660	42427660	G	C	GRN	c.414G>C	NM_002087.4	NP_002078.1:p.(Thr138=)	NC_000017.10:g.42427660G>C	(Likely) benign	1 lab	026b870235
11:108158231 ATM A>G	11	108158231	108158231	A	G	ATM	c.3994-96A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108158231A>G	(Likely) benign	1 lab	d5093cd2e6
11:76376908 LRRC32 A>ATC	11	76376908	76376911	A	ATC	LRRC32	c.84+5_84+6dup	NM_001128922.2	NP_001122394.1:p.?	NC_000011.9:g.76376910_76376911dup	VUS	1 lab	026c5d3c07
19:47259734 FKRP G>T	19	47259734	47259734	G	T	FKRP				NC_000019.9:g.47259734G>T	(Likely) pathogenic	1 lab	3e11caa039
11:125775498 DDX25 A>G	11	125775498	125775498	A	G	DDX25	c.175+6A>G	NM_013264.5	NP_037396.3:p.?	NC_000011.9:g.125775498A>G	(Likely) benign	1 lab	026c6b52ad
15:99442689 IGF1R A>G	15	99442689	99442689	A	G	IGF1R	c.1103-17A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99442689A>G	(Likely) benign	1 lab	026e294b9e
11:108121487 ATM T>C	11	108121487	108121487	T	C	ATM	c.1295T>C	NM_000051.3	NP_000042.3:p.(Leu432Pro)	NC_000011.9:g.108121487T>C	VUS	1 lab	d56c500ed2
13:32953993 BRCA2 TGAAAGAGCTAACATACA>T	13	32953993	32954011	TGAAAGAGCTAACATACA	T	BRCA2	c.9062_9078del	NM_000059.4	NP_000050.3:p.(Glu3021ValfsTer17)	NC_000013.10:g.32953995_32954011del	(Likely) pathogenic	1 lab	d573ddbd1f
3:122003350 CASR C>A	3	122003350	122003350	C	A	CASR	c.2549C>A	NM_000388.4	NP_000379.3:p.(Ala850Glu)	NC_000003.11:g.122003350C>A	VUS	1 lab	026fad90d3
4:5687099 EVC2 G>A	4	5687099	5687099	G	A	EVC2	c.814C>T	NM_147127.5	NP_667338.3:p.(Arg272Trp)	NC_000004.11:g.5687099G>A	(Likely) benign	1 lab	0271b07d12
17:56787268 RAD51C C>T	17	56787268	56787268	C	T	RAD51C	c.754C>T	NM_058216.3	NP_478123.1:p.(Leu252=)	NC_000017.10:g.56787268C>T	(Likely) benign	1 lab	d5d8b30991
2:48033889 MSH6 ACT>A	2	48033889	48033891	ACT	A	MSH6	c.4002-28_4002-27del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033890_48033891del	(Likely) benign	1 lab	d5e5bbddff
X:107802373 COL4A5 G>A	X	107802373	107802373	G	A	COL4A5	c.221G>A	NM_033380.3	NP_203699.1:p.(Arg74Gln)	NC_000023.10:g.107802373G>A	(Likely) benign	1 lab	0271f01ea3
2:47630419 MSH2 C>T	2	47630419	47630419	C	T	MSH2	c.89C>T	NM_000251.2	NP_000242.1:p.(Pro30Leu)	NC_000002.11:g.47630419C>T	(Likely) benign	1 lab	d5f9543bc4
13:32953455 BRCA2 G>C	13	32953455	32953455	G	C	BRCA2	c.8756G>C	NM_000059.4	NP_000050.3:p.(Gly2919Ala)	NC_000013.10:g.32953455G>C	VUS	1 lab	02726f010a
11:108216429 ATM C>T	11	108216429	108216429	C	T	ATM	c.8419-41C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108216429C>T	(Likely) benign	1 lab	d65848dfb9
13:32903620 BRCA2 TAC>T	13	32903620	32903622	TAC	T	BRCA2	c.673_674del	NM_000059.4	NP_000050.3:p.(Thr225TyrfsTer3)	NC_000013.10:g.32903621_32903622del	(Likely) pathogenic	1 lab	d65e21b8bc
10:89623859 PTEN GCT>G	10	89623859	89623861	GCT	G	PTEN	c.-367_-366del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623860_89623861del	(Likely) benign	1 lab	d67eb6bf08
11:17426228 ABCC8 G>A	11	17426228	17426228	G	A	ABCC8	c.3400-12C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17426228G>A	(Likely) benign	1 lab	02733d25db
13:32900816 BRCA2 C>T	13	32900816	32900816	C	T	BRCA2	c.631+66C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900816C>T	(Likely) benign	1 lab	d6b29f33bc
15:90210158 PLIN1 G>A	15	90210158	90210158	G	A	PLIN1	c.1209+9C>T	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90210158G>A	(Likely) benign	1 lab	027407f35a
11:108163918 ATM G>A	11	108163918	108163918	G	A	ATM	c.4612-122G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108163918G>A	(Likely) benign	1 lab	d6c51009ad
3:15686669 BTD G>A	3	15686669	15686669	G	A	BTD	c.1246G>A	NM_001370658.1	NP_001357587.1:p.(Glu416Lys)	NC_000003.11:g.15686669G>A	(Likely) benign	1 lab	02752cab0e
16:23647335 PALB2 C>G	16	23647335	23647335	C	G	PALB2	c.532G>C	NM_024675.3	NP_078951.2:p.(Glu178Gln)	NC_000016.9:g.23647335C>G	(Likely) benign	1 lab	d6fe73c403
15:90216568 PLIN1 G>T	15	90216568	90216568	G	T	PLIN1	c.123C>A	NM_002666.5	NP_002657.3:p.(Tyr41Ter)	NC_000015.9:g.90216568G>T	VUS	1 lab	0277121af7
12:58016602 SLC26A10P AGCTGCCCAGGATTCTG>A	12	58016602	58016622	AGCTGCCCAGGATTCTG	A	SLC26A10P	n.1523_1538del	NR_166678.1		NC_000012.11:g.58016607_58016622del	VUS	1 lab	1c9a92fb05
13:32890624 BRCA2 A>G	13	32890624	32890624	A	G	BRCA2	c.27A>G	NM_000059.3	NP_000050.2:p.(Pro9=)	NC_000013.10:g.32890624A>G	(Likely) benign	1 lab	d7bc41d5e6
10:43601894 RET G>A	10	43601894	43601894	G	A	RET	c.938G>A	NM_020975.6	NP_066124.1:p.(Arg313Gln)	NC_000010.10:g.43601894G>A	(Likely) benign	1 lab	02788ab5ac
16:23649318 PALB2 T>A	16	23649318	23649318	T	A	PALB2	c.109-45A>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649318T>A	(Likely) benign	1 lab	d7ed29d876
17:41215890 BRCA1 C>A	17	41215890	41215890	C	A	BRCA1	c.5152+1G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215890C>A	(Likely) pathogenic	1 lab	d80a370e50
16:22269053 EEF2K C>T	16	22269053	22269053	C	T	EEF2K	c.991C>T	NM_013302.5	NP_037434.2:p.(Arg331Trp)	NC_000016.9:g.22269053C>T	VUS	1 lab	0279d0ed6a
11:108196713 ATM A>T	11	108196713	108196713	A	T	ATM	c.6808-72A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108196713A>T	(Likely) benign	1 lab	d82c0a56b9
4:96052662 BMPR1B A>G	4	96052662	96052662	A	G	BMPR1B	c.1075A>G	NM_001203.3	NP_001194.1:p.(Ser359Gly)	NC_000004.11:g.96052662A>G	VUS	1 lab	027b8155c0
13:32913573 BRCA2 G>C	13	32913573	32913573	G	C	BRCA2	c.5081G>C	NM_000059.3	NP_000050.2:p.(Arg1694Thr)	NC_000013.10:g.32913573G>C	(Likely) benign	1 lab	d89e2e14fe
12:12274238 LRP6 C>T	12	12274238	12274238	C	T	LRP6	c.4664G>A	NM_002336.3	NP_002327.2:p.(Gly1555Asp)	NC_000012.11:g.12274238C>T	VUS	1 lab	027b9e7c36
17:41197685 BRCA1 CTGG>C	17	41197685	41197688	CTGG	C	BRCA1	c.*7_*9del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197686_41197688del	(Likely) benign	1 lab	d8ba536803
17:41244005 BRCA1 GAC>G	17	41244005	41244007	GAC	G	BRCA1	c.3541_3542del	NM_007294.4	NP_009225.1:p.(Val1181ProfsTer6)	NC_000017.10:g.41244006_41244007del	(Likely) pathogenic	1 lab	d8bab7eeec
5:138160056 CTNNA1 A>G	5	138160056	138160056	A	G	CTNNA1	c.589-163A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138160056A>G	(Likely) benign	1 lab	d8d1afb8c7
5:1253744 TERT G>A	5	1253744	1253744	G	A	TERT	c.*99C>T	NM_198253.2	NP_937983.2:p.?	NC_000005.9:g.1253744G>A	(Likely) benign	1 lab	d8e32a78f9
17:41226243 BRCA1 C>T	17	41226243	41226243	C	T	BRCA1	c.4675+105G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226243C>T	(Likely) benign	1 lab	d8eed377e7
20:17597405 RRBP1 G>A	20	17597405	17597405	G	A	RRBP1	c.3839C>T	NM_001365613.2	NP_001352542.1:p.(Ala1280Val)	NC_000020.10:g.17597405G>A	VUS	1 lab	027bdf4a67
19:50735280 MYH14 C>T	19	50735280	50735280	C	T	MYH14	c.1067C>T	NM_001145809.2	NP_001139281.1:p.(Thr356Met)	NC_000019.9:g.50735280C>T	VUS	1 lab	027bf55aae
10:89685244 PTEN TTTTTG>T	10	89685244	89685252	TTTTTG	T	PTEN	c.165-22_165-18del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89685248_89685252del	(Likely) benign	1 lab	dae244e31e
X:24382373 SUPT20HL1 T>TTGCTGCTGCTGCTGCTGCTGC	X	24382373	24382428	T	TTGCTGCTGCTGCTGCTGCTGC	SUPT20HL1	c.1531_1551dup	NM_001136234.3	NP_001129706.3:p.(Ala511_Ala517dup)	NC_000023.10:g.24382408_24382428dup	VUS	1 lab	027dbe71c6
10:88476181 LDB3 T>C	10	88476181	88476181	T	C	LDB3	c.1329T>C	NM_007078.3	NP_009009.1:p.(Pro443=)	NC_000010.10:g.88476181T>C	(Likely) benign	1 lab	027fe3cdf7
19:55672151 DNAAF3 T>C	19	55672151	55672151	T	C	DNAAF3	c.913-8A>G	NM_001256715.2	NP_001243644.1:p.?	NC_000019.9:g.55672151T>C	(Likely) benign	1 lab	027feb3672
16:1278906 TPSB2 T>G	16	1278906	1278906	T	G	TPSB2	c.657A>C	NM_024164.6	NP_077078.5:p.(Ser219=)	NC_000016.9:g.1278906T>G	(Likely) benign	1 lab	028012d797
X:152991417 ABCD1 G>T	X	152991417	152991417	G	T	ABCD1	c.696G>T	NM_000033.4	NP_000024.2:p.(Ala232=)	NC_000023.10:g.152991417G>T	(Likely) benign	1 lab	0280281903
15:30700477 GOLGA8R G>C	15	30700477	30700477	G	C	GOLGA8R	c.700C>G	NM_001282484.1	NP_001269413.1:p.(Leu234Val)	NC_000015.9:g.30700477G>C	(Likely) benign	1 lab	02805b741e
17:41256074 BRCA1 CAAAAAAAAAAAAG>C	17	41256074	41256097	CAAAAAAAAAAAAG	C	BRCA1	c.441+52_441+64del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256085_41256097del	(Likely) benign	1 lab	d97c7c5271
15:84539621 ADAMTSL3 C>T	15	84539621	84539621	C	T	ADAMTSL3	c.870C>T	NM_207517.3	NP_997400.2:p.(Leu290=)	NC_000015.9:g.84539621C>T	(Likely) benign	1 lab	02823cebb4
7:124480869 POT1 T>C	7	124480869	124480869	T	C	POT1	c.1369+158A>G	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124480869T>C	(Likely) benign	1 lab	d99e414529
19:11169097 SMARCA4 G>A	19	11169097	11169097	G	A	SMARCA4				NC_000019.9:g.11169097G>A	(Likely) benign	1 lab	d9d2f6c742
2:47709924 MSH2 G>A	2	47709924	47709924	G	A	MSH2	c.2641G>A	NM_000251.2	NP_000242.1:p.(Glu881Lys)	NC_000002.11:g.47709924G>A	VUS	1 lab	da4e60e772
11:108173506 ATM T>C	11	108173506	108173506	T	C	ATM	c.5320-74T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108173506T>C	(Likely) benign	1 lab	da4e793d8a
2:203848307 CARF C>CA	2	203848307	203848315	C	CA	CARF	c.2146dup	NM_024744.17	NP_079020.13:p.(Thr716AsnfsTer5)	NC_000002.11:g.203848315dup	VUS	1 lab	02841d6e9d
20:61467851 COL9A3 C>T	20	61467851	61467851	C	T	COL9A3	c.1570C>T	NM_001853.4	NP_001844.3:p.(Arg524Cys)	NC_000020.10:g.61467851C>T	VUS	1 lab	02845446ea
13:32911128 BRCA2 C>T	13	32911128	32911128	C	T	BRCA2	c.2636C>T	NM_000059.3	NP_000050.2:p.(Ser879Phe)	NC_000013.10:g.32911128C>T	VUS	1 lab	dac2a00796
10:12077409 UPF2 C>T	10	12077409	12077409	C	T	UPF2	c.14G>A	NM_015542.4	NP_056357.1:p.(Arg5His)	NC_000010.10:g.12077409C>T	VUS	1 lab	028df86e85
11:108153549 ATM A>G	11	108153549	108153549	A	G	ATM	c.3689A>G	NM_000051.3	NP_000042.3:p.(Asn1230Ser)	NC_000011.9:g.108153549A>G	(Likely) benign	1 lab	dafd0e2e98
16:46729491 ORC6 T>C	16	46729491	46729491	T	C	ORC6	c.467T>C	NM_014321.4	NP_055136.1:p.(Val156Ala)	NC_000016.9:g.46729491T>C	(Likely) benign	1 lab	02867bdcb4
17:41246348 BRCA1 A>T	17	41246348	41246348	A	T	BRCA1	c.1200T>A	NM_007294.3	NP_009225.1:p.(Asp400Glu)	NC_000017.10:g.41246348A>T	(Likely) benign	1 lab	db9f7f4ad0
5:79968454 MSH3 A>G	5	79968454	79968454	A	G	MSH3	c.910-106A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79968454A>G	(Likely) benign	1 lab	dbc391267c
17:41245820 BRCA1 T>A	17	41245820	41245820	T	A	BRCA1	c.1728A>T	NM_007294.3	NP_009225.1:p.(Lys576Asn)	NC_000017.10:g.41245820T>A	(Likely) benign	1 lab	dbc9bb98e4
12:49420629 KMT2D G>A	12	49420629	49420629	G	A	KMT2D	c.15120C>T	NM_003482.4	NP_003473.3:p.(Asp5040=)	NC_000012.11:g.49420629G>A	(Likely) benign	1 lab	0286966e2a
11:108236069 ATM T>TCA	11	108236069	108236071	T	TCA	ATM	c.9006_9007dup	NM_000051.3	NP_000042.3:p.(Asn3003ThrfsTer4)	NC_000011.9:g.108236070_108236071dup	(Likely) pathogenic	1 lab	dbdca6a4dd
11:108186503 ATM A>T	11	108186503	108186503	A	T	ATM	c.6007-47A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186503A>T	(Likely) benign	1 lab	dc12ae3a7f
3:37050365 MLH1 GAAT>G	3	37050365	37050369	GAAT	G	MLH1	c.516_518del	NM_000249.4	NP_000240.1:p.(Glu172_Tyr173delinsAsp)	NC_000003.11:g.37050367_37050369del	(Likely) pathogenic	1 lab	dc2531fcae
17:7577025 TP53 T>A	17	7577025	7577025	T	A	TP53	c.913A>T	NM_000546.5	NP_000537.3:p.(Lys305Ter)	NC_000017.10:g.7577025T>A	(Likely) pathogenic	1 lab	dc3c71c2bb
17:41244840 BRCA1 C>A	17	41244840	41244840	C	A	BRCA1	c.2708G>T	NM_007294.3	NP_009225.1:p.(Cys903Phe)	NC_000017.10:g.41244840C>A	VUS	1 lab	dc5b4e8b6e
17:7572877 TP53 G>C	17	7572877	7572877	G	C	TP53	c.*50C>G	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7572877G>C	(Likely) benign	1 lab	dc7b5f1317
16:23646676 PALB2 T>C	16	23646676	23646676	T	C	PALB2	c.1191A>G	NM_024675.3	NP_078951.2:p.(Thr397=)	NC_000016.9:g.23646676T>C	(Likely) benign	1 lab	dc8b28f9db
17:41276150 BRCA1 A>G	17	41276150	41276150	A	G	BRCA1	c.-19-18T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41276150A>G	(Likely) benign	1 lab	dcf0d6a49f
13:32930731 BRCA2 G>C	13	32930731	32930731	G	C	BRCA2	c.7602G>C	NM_000059.3	NP_000050.2:p.(Ala2534=)	NC_000013.10:g.32930731G>C	(Likely) benign	1 lab	dcf47af7e3
16:81925167 PLCG2 C>T	16	81925167	81925167	C	T	PLCG2	c.958C>T	NM_002661.5	NP_002652.2:p.(His320Tyr)	NC_000016.9:g.81925167C>T	VUS	1 lab	02b6f5ca0d
11:108196715 ATM T>TC	11	108196715	108196716	T	TC	ATM	c.6808-70_6808-69insC	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196715_108196716insC	(Likely) benign	1 lab	dd2ab14d78
11:108114735 ATM AGT>A	11	108114735	108114737	AGT	A	ATM	c.553_554del	NM_000051.4	NP_000042.3:p.(Val185PhefsTer4)	NC_000011.9:g.108114736_108114737del	(Likely) pathogenic	1 lab	dd7b9aa55f
14:21862289 CHD8 G>A	14	21862289	21862289	G	A	CHD8	c.5665C>T	NM_001170629.2	NP_001164100.1:p.(Arg1889Cys)	NC_000014.8:g.21862289G>A	(Likely) benign	1 lab	029106f9e1
12:80936082 MISSING C>T	12	80936082	80936082	C	T	MISSING				NC_000012.11:g.80936082C>T	(Likely) benign	1 lab	560614104f
11:108163454 ATM C>T	11	108163454	108163454	C	T	ATM	c.4545C>T	NM_000051.3	NP_000042.3:p.(Asn1515=)	NC_000011.9:g.108163454C>T	(Likely) benign	1 lab	dddf2a4846
4:55141037 PDGFRA C>T	4	55141037	55141037	C	T	PDGFRA	c.1683C>T	NM_006206.6	NP_006197.1:p.(Val561=)	NC_000004.11:g.55141037C>T	(Likely) benign	1 lab	0292e710af
X:111090405 TRPC5 G>T	X	111090405	111090405	G	T	TRPC5	c.1637C>A	NM_012471.3	NP_036603.1:p.(Ala546Asp)	NC_000023.10:g.111090405G>T	(Likely) benign	1 lab	0293a460f6
19:11135189 SMARCA4 G>A	19	11135189	11135189	G	A	SMARCA4				NC_000019.9:g.11135189G>A	(Likely) benign	1 lab	de2bfa2deb
17:7577427 TP53 G>A	17	7577427	7577427	G	A	TP53	c.782+72C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577427G>A	(Likely) benign	1 lab	de9ef651a0
11:118376267 KMT2A AC>A	11	118376267	118376268	AC	A	KMT2A	c.9661del	NM_001197104.2	NP_001184033.1:p.(Leu3221SerfsTer35)	NC_000011.9:g.118376268del	VUS	1 lab	0294301a6c
X:21675416 KLHL34 C>T	X	21675416	21675416	C	T	KLHL34	c.491G>A	NM_153270.3	NP_695002.1:p.(Arg164Gln)	NC_000023.10:g.21675416C>T	VUS	1 lab	0295a516ec
X:71360426 NHSL2 G>T	X	71360426	71360426	G	T	NHSL2	c.3028G>T	NM_001013627.3	NP_001013649.2:p.(Val1010Leu)	NC_000023.10:g.71360426G>T	VUS	1 lab	02970e20ed
12:121426833 HNF1A A>G	12	121426833	121426833	A	G	HNF1A	c.524A>G	NM_000545.8	NP_000536.6:p.(Gln175Arg)	NC_000012.11:g.121426833A>G	VUS	1 lab	029745372b
22:29121004 CHEK2 T>C	22	29121004	29121004	T	C	CHEK2	c.553A>G	NM_007194.4	NP_009125.1:p.(Asn185Asp)	NC_000022.10:g.29121004T>C	(Likely) benign	1 lab	df43e9946d
17:7573996 TP53 A>G	17	7573996	7573996	A	G	TP53	c.1031T>C	NM_000546.6	NP_000537.3:p.(Leu344Pro)	NC_000017.10:g.7573996A>G	(Likely) pathogenic	1 lab	df51a20cea
13:32930707 BRCA2 AGTAG>A	13	32930707	32930712	AGTAG	A	BRCA2	c.7580_7583del	NM_000059.4	NP_000050.3:p.(Val2527GlufsTer23)	NC_000013.10:g.32930709_32930712del	VUS	1 lab	df80153272
7:6018399 PMS2 AAAAC>A	7	6018399	6018405	AAAAC	A	PMS2	c.2175-76_2175-73del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6018402_6018405del	(Likely) benign	1 lab	df921f01d1
7:101923347 CUX1 A>G	7	101923347	101923347	A	G	CUX1	c.1651A>G	NM_001202544.1	NP_001189473.1:p.(Thr551Ala)	NC_000007.13:g.101923347A>G	(Likely) benign	1 lab	1ce0d99a7a
7:116544291 CAPZA2 A>C	7	116544291	116544291	A	C	CAPZA2	c.280A>C	NM_006136.3	NP_006127.1:p.(Ile94Leu)	NC_000007.13:g.116544291A>C	VUS	1 lab	0299dc0373
7:116411379 MET A>T	7	116411379	116411379	A	T	MET	c.2785-173A>T	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116411379A>T	(Likely) benign	1 lab	dfb35d7f73
19:42863277 MEGF8 G>T	19	42863277	42863277	G	T	MEGF8	c.5371G>T	NM_001271938.2	NP_001258867.1:p.(Ala1791Ser)	NC_000019.9:g.42863277G>T	VUS	1 lab	029bc26253
17:59858228 BRIP1 T>C	17	59858228	59858228	T	C	BRIP1	c.1767A>G	NM_032043.2	NP_114432.2:p.(Leu589=)	NC_000017.10:g.59858228T>C	(Likely) benign	1 lab	e0107e5a45
3:184100216 CHRD C>T	3	184100216	184100216	C	T	CHRD	c.739C>T	NM_003741.4	NP_003732.2:p.(Arg247Trp)	NC_000003.11:g.184100216C>T	(Likely) benign	1 lab	029bee0f30
13:32912863 BRCA2 G>A	13	32912863	32912863	G	A	BRCA2	c.4371G>A	NM_000059.3	NP_000050.2:p.(Leu1457=)	NC_000013.10:g.32912863G>A	(Likely) benign	1 lab	e10456f64a
13:32971223 BRCA2 A>G	13	32971223	32971223	A	G	BRCA2	c.9648+42A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971223A>G	(Likely) benign	1 lab	e10459b6c8
19:10445342 ICAM3 CG>C	19	10445342	10445344	CG	C	ICAM3	c.1053del	NM_002162.5	NP_002153.2:p.(Ala352ArgfsTer11)	NC_000019.9:g.10445344del	VUS	1 lab	029e22a9ff
17:41197691 BRCA1 G>GTACT	17	41197691	41197692	G	GTACT	BRCA1	c.*3_*4insAGTA	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197691_41197692insTACT	(Likely) benign	1 lab	e14ade2d15
13:32907526 BRCA2 T>G	13	32907526	32907526	T	G	BRCA2	c.1909+2T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32907526T>G	(Likely) pathogenic	1 lab	e1632005f2
7:128526984 KCP G>A	7	128526984	128526984	G	A	KCP	c.2635C>T	NM_001366122.1	NP_001353051.1:p.(Pro879Ser)	NC_000007.13:g.128526984G>A	VUS	1 lab	029e7bb59e
13:32913569 BRCA2 CTT>C	13	32913569	32913571	CTT	C	BRCA2	c.5078_5079del	NM_000059.4	NP_000050.3:p.(Leu1693GlnfsTer6)	NC_000013.10:g.32913570_32913571del	(Likely) pathogenic	1 lab	e1872ffcf9
17:7578498 TP53 CTGCA>C	17	7578498	7578502	CTGCA	C	TP53	c.428_431del	NM_000546.6	NP_000537.3:p.(Val143GlyfsTer26)	NC_000017.10:g.7578499_7578502del	VUS	1 lab	e19c5c068c
8:61654074 CHD7 G>C	8	61654074	61654074	G	C	CHD7	c.83G>C	NM_017780.4	NP_060250.2:p.(Gly28Ala)	NC_000008.10:g.61654074G>C	VUS	1 lab	033f36886e
2:215674090 BARD1 T>G	2	215674090	215674090	T	G	BARD1	c.158+46A>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674090T>G	(Likely) benign	1 lab	e1f0737540
17:33434034 RAD51D C>G	17	33434034	33434034	C	G	RAD51D	c.453G>C	NM_002878.3	NP_002869.3:p.(Gln151His)	NC_000017.10:g.33434034C>G	VUS	1 lab	e1f85d4172
11:46747708 F2 G>A	11	46747708	46747708	G	A	F2	c.859G>A	NM_000506.5	NP_000497.1:p.(Asp287Asn)	NC_000011.9:g.46747708G>A	VUS	1 lab	029f4d247c
17:34072210 GAS2L2 G>A	17	34072210	34072210	G	A	GAS2L2	c.2306C>T	NM_139285.4	NP_644814.1:p.(Pro769Leu)	NC_000017.10:g.34072210G>A	VUS	1 lab	02a1953cf4
X:99661473 PCDH19 T>C	X	99661473	99661473	T	C	PCDH19	c.2123A>G	NM_001184880.2	NP_001171809.1:p.(Lys708Arg)	NC_000023.10:g.99661473T>C	VUS	1 lab	02a2cb4632
13:32906914 BRCA2 CAAAAG>C	13	32906914	32906922	CAAAAG	C	BRCA2	c.1303_1307del	NM_000059.4	NP_000050.3:p.(Arg435GlufsTer15)	NC_000013.10:g.32906918_32906922del	(Likely) pathogenic	1 lab	e2201df300
19:1207280 STK11 C>T	19	1207280	1207280	C	T	STK11	c.290+78C>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1207280C>T	(Likely) benign	1 lab	e23ddeebf7
22:29121015 CHEK2 C>T	22	29121015	29121015	C	T	CHEK2	c.542G>A	NM_007194.4	NP_009125.1:p.(Arg181His)	NC_000022.10:g.29121015C>T	VUS	1 lab	e253998698
16:17353012 XYLT1 G>T	16	17353012	17353012	G	T	XYLT1	c.746C>A	NM_022166.4	NP_071449.1:p.(Thr249Asn)	NC_000016.9:g.17353012G>T	(Likely) benign	1 lab	02a3c7033c
12:112924280 PTPN11 G>C	12	112924280	112924280	G	C	PTPN11	c.1226G>C	NM_002834.5	NP_002825.3:p.(Gly409Ala)	NC_000012.11:g.112924280G>C	VUS	1 lab	02a4980bc1
6:129465042 LAMA2 G>T	6	129465042	129465042	G	T	LAMA2	c.640-4G>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129465042G>T	(Likely) benign	1 lab	02a53faf15
15:74219582 LOXL1 G>A	15	74219582	74219582	G	A	LOXL1	c.458G>A	NM_005576.4	NP_005567.2:p.(Gly153Asp)	NC_000015.9:g.74219582G>A	(Likely) pathogenic	1 lab	02a555ec93
17:41197725 BRCA1 C>T	17	41197725	41197725	C	T	BRCA1	c.5562G>A	NM_007294.3	NP_009225.1:p.(Leu1854=)	NC_000017.10:g.41197725C>T	(Likely) benign	1 lab	e315530ec1
17:33444063 RAD51D GAT>G	17	33444063	33444065	GAT	G	RAD51D	c.263+1455_263+1456del	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33444064_33444065del	(Likely) benign	1 lab	e31bc2d0ee
1:78458532 DNAJB4 C>T	1	78458532	78458532	C	T	DNAJB4	c.-31-12232C>T	NM_001317099.1	NP_001304028.1:p.?	NC_000001.10:g.78458532C>T	VUS	1 lab	1dded31d15
14:65550984 MAX C>T	14	65550984	65550984	C	T	MAX	c.205G>A	NM_145114.2	NP_660089.1:p.(Val69Ile)	NC_000014.8:g.65550984C>T	(Likely) benign	1 lab	e34d591b73
9:65632072 CNTNAP3P2 G>T	9	65632072	65632072	G	T	CNTNAP3P2	n.2634G>T	NR_111893.2		NC_000009.11:g.65632072G>T	(Likely) benign	1 lab	1e5458591e
15:89389078 ACAN TGACCGCTGTCCCTGGGC>T	15	89389078	89389095	TGACCGCTGTCCCTGGGC	T	ACAN	c.1395_1411del	NM_001369268.1	NP_001356197.1:p.(Thr466AlafsTer23)	NC_000015.9:g.89389079_89389095del	(Likely) pathogenic	1 lab	02a690a3b3
8:145049512 PLEC C>T	8	145049512	145049512	C	T	PLEC	c.26G>A	NM_000445.3	NP_000436.2:p.(Arg9Gln)	NC_000008.10:g.145049512C>T	VUS	1 lab	1e8bfaab22
16:15761277 NDE1 T>C	16	15761277	15761277	T	C	NDE1	c.218T>C	NM_017668.3	NP_060138.1:p.(Met73Thr)	NC_000016.9:g.15761277T>C	(Likely) benign	1 lab	02a6a68253
4:38138822 TBC1D1 C>G	4	38138822	38138822	C	G	TBC1D1	c.3655C>G	NM_001396959.1	NP_001383888.1:p.(Leu1219Val)	NC_000004.11:g.38138822C>G	VUS	1 lab	02a75a5f9b
3:37038145 MLH1 TTAAAG>T	3	37038145	37038150	TTAAAG	T	MLH1	c.153_157del	NM_000249.4	NP_000240.1:p.(Lys52GlyfsTer25)	NC_000003.11:g.37038146_37038150del	(Likely) pathogenic	1 lab	e4673b42cf
11:108216412 ATM ATATTAGT>A	11	108216412	108216420	ATATTAGT	A	ATM	c.8419-56_8419-50del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108216414_108216420del	(Likely) benign	1 lab	e47a0d09ca
2:47693768 MSH2 T>C	2	47693768	47693768	T	C	MSH2	c.1511-29T>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47693768T>C	(Likely) benign	1 lab	e490439e13
11:108158204 ATM GTC>G	11	108158204	108158206	GTC	G	ATM	c.3994-122_3994-121del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158205_108158206del	(Likely) benign	1 lab	e4a296cf6e
11:108117896 ATM AAT>A	11	108117896	108117898	AAT	A	ATM	c.1065+43_1065+44del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108117897_108117898del	(Likely) benign	1 lab	e4a7c1f4fd
17:41244378 BRCA1 C>T	17	41244378	41244378	C	T	BRCA1	c.3170G>A	NM_007294.3	NP_009225.1:p.(Ser1057Asn)	NC_000017.10:g.41244378C>T	(Likely) benign	1 lab	e4f94f2320
2:36668652 CRIM1 G>A	2	36668652	36668652	G	A	CRIM1	c.748+9G>A	NM_016441.3	NP_057525.1:p.?	NC_000002.11:g.36668652G>A	(Likely) benign	1 lab	02a9d582b5
11:108121580 ATM CATTGTG>C	11	108121580	108121586	CATTGTG	C	ATM	c.1389_1394del	NM_000051.4	NP_000042.3:p.(Leu464_Cys465del)	NC_000011.9:g.108121581_108121586del	(Likely) pathogenic	1 lab	e50c6123d1
13:32913492 BRCA2 C>G	13	32913492	32913492	C	G	BRCA2	c.5000C>G	NM_000059.3	NP_000050.2:p.(Ser1667Ter)	NC_000013.10:g.32913492C>G	(Likely) pathogenic	1 lab	e52c50da9f
19:50212071 CPT1C G>A	19	50212071	50212071	G	A	CPT1C	c.1541G>A	NM_001199753.2	NP_001186682.1:p.(Arg514Gln)	NC_000019.9:g.50212071G>A	(Likely) benign	1 lab	02aa3a95f9
13:32911376 BRCA2 C>G	13	32911376	32911376	C	G	BRCA2	c.2884C>G	NM_000059.3	NP_000050.2:p.(His962Asp)	NC_000013.10:g.32911376C>G	(Likely) benign	1 lab	e53eca28d6
2:48031924 MSH6 C>G	2	48031924	48031924	C	G	MSH6	c.3439-125C>G	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48031924C>G	(Likely) benign	1 lab	e5553a51f7
11:46900521 LRP4 C>G	11	46900521	46900521	C	G	LRP4	c.3073G>C	NM_002334.4	NP_002325.2:p.(Gly1025Arg)	NC_000011.9:g.46900521C>G	VUS	1 lab	02abff1bb5
7:6027017 PMS2 C>T	7	6027017	6027017	C	T	PMS2	c.1379G>A	NM_000535.7	NP_000526.2:p.(Gly460Asp)	NC_000007.13:g.6027017C>T	(Likely) benign	1 lab	e59657c723
7:6017123 PMS2 G>T	7	6017123	6017123	G	T	PMS2	c.2445+96C>A	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6017123G>T	(Likely) benign	1 lab	e59fcbae90
2:48025854 MSH6 AAT>A	2	48025854	48025857	AAT	A	MSH6	c.734_735del	NM_000179.3	NP_000170.1:p.(Ile245LysfsTer10)	NC_000002.11:g.48025856_48025857del	(Likely) pathogenic	1 lab	e6562c4ca4
11:108121409 ATM CCTTT>C	11	108121409	108121413	CCTTT	C	ATM	c.1236-18_1236-15del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121410_108121413del	(Likely) benign	1 lab	e67cfc011f
7:6027148 PMS2 G>T	7	6027148	6027148	G	T	PMS2	c.1248C>A	NM_000535.5	NP_000526.1:p.(Ser416=)	NC_000007.13:g.6027148G>T	(Likely) benign	1 lab	e6970e55ca
12:66221849 HMGA2 C>T	12	66221849	66221849	C	T	HMGA2	c.180C>T	NM_003483.6	NP_003474.1:p.(Pro60=)	NC_000012.11:g.66221849C>T	(Likely) benign	1 lab	02ad2d7bce
11:108158230 ATM G>A	11	108158230	108158230	G	A	ATM	c.3994-97G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108158230G>A	(Likely) benign	1 lab	e6daf73efe
11:108201231 ATM CTCT>C	11	108201231	108201235	CTCT	C	ATM	c.7515+85_7515+87del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108201233_108201235del	(Likely) benign	1 lab	e6dc5a288b
5:31267595 CDH6 C>G	5	31267595	31267595	C	G	CDH6	c.15C>G	NM_004932.4	NP_004923.1:p.(Arg5=)	NC_000005.9:g.31267595C>G	(Likely) benign	1 lab	02ae08d24e
19:1219443 STK11 G>GCGGGGGC	19	1219443	1219458	G	GCGGGGGC	STK11	c.464+40_464+46dup	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1219452_1219458dup	(Likely) benign	1 lab	e71b98ff4d
5:80024608 MSH3 A>G	5	80024608	80024608	A	G	MSH3	c.1454-62A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80024608A>G	(Likely) benign	1 lab	ef7410cf59
13:32900806 BRCA2 A>T	13	32900806	32900806	A	T	BRCA2	c.631+56A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900806A>T	(Likely) benign	1 lab	e7431b97f7
16:23649170 PALB2 C>T	16	23649170	23649170	C	T	PALB2	c.211+1G>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649170C>T	VUS	1 lab	e78980f6a1
17:41246887 BRCA1 TAC>T	17	41246887	41246890	TAC	T	BRCA1	c.671-12_671-11del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41246889_41246890del	(Likely) benign	1 lab	e7b450568c
22:38531101 PLA2G6 G>A	22	38531101	38531101	G	A	PLA2G6	c.798-10C>T	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38531101G>A	(Likely) benign	1 lab	0317ef9080
13:32915157 BRCA2 A>G	13	32915157	32915157	A	G	BRCA2	c.6665A>G	NM_000059.3	NP_000050.2:p.(Tyr2222Cys)	NC_000013.10:g.32915157A>G	(Likely) benign	1 lab	e82d33b015
22:29126623 CHEK2 A>G	22	29126623	29126623	A	G	CHEK2	c.319+3768T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29126623A>G	(Likely) benign	1 lab	e82fa748b5
17:56798254 RAD51C C>T	17	56798254	56798254	C	T	RAD51C	c.904+81C>T	NM_058216.1	NP_478123.1:p.?	NC_000017.10:g.56798254C>T	(Likely) benign	1 lab	e838462817
16:23640957 PALB2 G>GT	16	23640957	23640958	G	GT	PALB2	c.2514+3dup	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640958dup	(Likely) benign	1 lab	e84e5cf022
17:59938849 BRIP1 G>A	17	59938849	59938849	G	A	BRIP1	c.52C>T	NM_032043.2	NP_114432.2:p.(Pro18Ser)	NC_000017.10:g.59938849G>A	VUS	1 lab	e872d3d505
7:148525902 EZH2 GTCA>G	7	148525902	148525912	GTCA	G	EZH2	c.552_554del	NM_004456.5	NP_004447.2:p.(Asp189del)	NC_000007.13:g.148525910_148525912del	(Likely) benign	1 lab	02b30c5c1b
17:41216052 BRCA1 T>C	17	41216052	41216052	T	C	BRCA1	c.5075-84A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41216052T>C	(Likely) benign	1 lab	e8b82aced1
X:47307025 ZNF41 C>T	X	47307025	47307025	C	T	ZNF41	c.2144G>A	NM_001324144.2	NP_001311073.1:p.(Gly715Glu)	NC_000023.10:g.47307025C>T	VUS	1 lab	02b4d1c1f3
20:31023894 ASXL1 G>A	20	31023894	31023894	G	A	ASXL1	c.3379G>A	NM_015338.6	NP_056153.2:p.(Asp1127Asn)	NC_000020.10:g.31023894G>A	(Likely) benign	1 lab	02b7a966ff
11:108195975 ATM AGTTTT>A	11	108195975	108195980	AGTTTT	A	ATM	c.6573-61_6573-57del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108195976_108195980del	(Likely) benign	1 lab	e8e5ea8dbc
11:64390499 NRXN2 C>T	11	64390499	64390499	C	T	NRXN2	c.3899G>A	NM_015080.4	NP_055895.1:p.(Arg1300Gln)	NC_000011.9:g.64390499C>T	VUS	1 lab	02b7bab9e4
11:108202761 ATM T>A	11	108202761	108202761	T	A	ATM	c.7785T>A	NM_000051.3	NP_000042.3:p.(Asp2595Glu)	NC_000011.9:g.108202761T>A	VUS	1 lab	e8efea69f7
3:38646354 SCN5A C>T	3	38646354	38646354	C	T	SCN5A	c.1384G>A	NM_000335.5	NP_000326.2:p.(Glu462Lys)	NC_000003.11:g.38646354C>T	VUS	1 lab	02b987e382
19:51175289 SHANK1 C>T	19	51175289	51175289	C	T	SHANK1	c.2660G>A	NM_016148.5	NP_057232.2:p.(Arg887Gln)	NC_000019.9:g.51175289C>T	VUS	1 lab	02bb6fa7be
17:41243685 BRCA1 T>G	17	41243685	41243685	T	G	BRCA1	c.3863A>C	NM_007294.3	NP_009225.1:p.(Glu1288Ala)	NC_000017.10:g.41243685T>G	(Likely) benign	1 lab	e920a08b21
17:41197715 BRCA1 T>G	17	41197715	41197715	T	G	BRCA1	c.5572A>C	NM_007294.3	NP_009225.1:p.(Ile1858Leu)	NC_000017.10:g.41197715T>G	(Likely) benign	1 lab	e92ac022b2
1:179520462 NPHS2 T>C	1	179520462	179520462	T	C	NPHS2	c.998A>G	NM_014625.4	NP_055440.1:p.(Glu333Gly)	NC_000001.10:g.179520462T>C	VUS	1 lab	02bbf6dd64
13:32907359 BRCA2 A>C	13	32907359	32907359	A	C	BRCA2	c.1744A>C	NM_000059.3	NP_000050.2:p.(Thr582Pro)	NC_000013.10:g.32907359A>C	(Likely) benign	1 lab	e931ea8a92
9:135985863 RALGDS G>T	9	135985863	135985863	G	T	RALGDS	c.308C>A	NM_006266.4	NP_006257.1:p.(Ser103Ter)	NC_000009.11:g.135985863G>T	VUS	1 lab	02bce3ddd7
16:5289888 RBFOX1 A>G	16	5289888	5289888	A	G	RBFOX1	c.121A>G	NM_001415887.1	NP_001402816.1:p.(Met41Val)	NC_000016.9:g.5289888A>G	(Likely) benign	1 lab	1e92c1c700
11:108172453 ATM T>G	11	108172453	108172453	T	G	ATM	c.5256T>G	NM_000051.4	NP_000042.3:p.(Ile1752Met)	NC_000011.9:g.108172453T>G	(Likely) benign	1 lab	e9aaccd5ba
13:115090683 CHAMP1 C>T	13	115090683	115090683	C	T	CHAMP1	c.1366C>T	NM_032436.4	NP_115812.1:p.(Arg456Trp)	NC_000013.10:g.115090683C>T	(Likely) benign	1 lab	02c0585ef5
3:37035087 MLH1 AAC>A	3	37035087	37035089	AAC	A	MLH1	c.50_51del	NM_000249.4	NP_000240.1:p.(Asn17ThrfsTer13)	NC_000003.11:g.37035088_37035089del	(Likely) pathogenic	1 lab	ea2bbd2c8d
11:108188265 ATM GAT>G	11	108188265	108188267	GAT	G	ATM	c.6347+18_6347+19del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108188266_108188267del	(Likely) benign	1 lab	ea3f774b1d
13:32890573 BRCA2 C>G	13	32890573	32890573	C	G	BRCA2	c.-25C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890573C>G	(Likely) benign	1 lab	ea5e491253
5:79960955 MSH3 G>A	5	79960955	79960955	G	A	MSH3	c.359-7G>A	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79960955G>A	(Likely) benign	1 lab	ea9f0b62bb
11:108123671 ATM T>A	11	108123671	108123671	T	A	ATM	c.1898+32T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123671T>A	(Likely) benign	1 lab	eab6c41518
17:29687707 NF1 C>T	17	29687707	29687707	C	T	NF1	c.8363C>T	NM_001042492.3	NP_001035957.1:p.(Ser2788Phe)	NC_000017.10:g.29687707C>T	VUS	1 lab	02c4e61883
9:123476548 MEGF9 G>GCGGCGA	9	123476548	123476554	G	GCGGCGA	MEGF9	c.88_89insTCGCCG	NM_001080497.3	NP_001073966.2:p.(Ala29_Ala30insValAla)	NC_000009.11:g.123476553_123476554insACGGCG	(Likely) benign	1 lab	02c7849880
17:41197743 BRCA1 CTG>C	17	41197743	41197745	CTG	C	BRCA1	c.5542_5543del	NM_007294.4	NP_009225.1:p.(Gln1848GlyfsTer31)	NC_000017.10:g.41197744_41197745del	(Likely) pathogenic	1 lab	eb1e7ef09b
17:41244412 BRCA1 C>A	17	41244412	41244412	C	A	BRCA1	c.3136G>T	NM_007294.3	NP_009225.1:p.(Glu1046Ter)	NC_000017.10:g.41244412C>A	(Likely) pathogenic	1 lab	eb24eaf57a
13:32912088 BRCA2 ACTG>A	13	32912088	32912091	ACTG	A	BRCA2	c.3597_3599del	NM_000059.4	NP_000050.3:p.(Cys1200del)	NC_000013.10:g.32912089_32912091del	(Likely) pathogenic	1 lab	eb694026df
7:116409674 MET CCT>C	7	116409674	116409676	CCT	C	MET	c.2584-24_2584-23del	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116409675_116409676del	(Likely) benign	1 lab	ebd03851d0
2:75118016 HK2 C>T	2	75118016	75118016	C	T	HK2	c.2702C>T	NM_000189.5	NP_000180.2:p.(Ala901Val)	NC_000002.11:g.75118016C>T	VUS	1 lab	02c81464c1
3:58110126 FLNB C>A	3	58110126	58110126	C	A	FLNB	c.3792C>A	NM_001457.4	NP_001448.2:p.(Asp1264Glu)	NC_000003.11:g.58110126C>A	VUS	1 lab	02c8839642
11:66455057 SPTBN2 C>T	11	66455057	66455057	C	T	SPTBN2	c.6563G>A	NM_006946.4	NP_008877.2:p.(Gly2188Asp)	NC_000011.9:g.66455057C>T	(Likely) benign	1 lab	02c90ca6a6
1:151413433 POGZ G>A	1	151413433	151413433	G	A	POGZ	c.254C>T	NM_015100.4	NP_055915.2:p.(Thr85Ile)	NC_000001.10:g.151413433G>A	(Likely) benign	1 lab	02cacc45b2
16:23634437 PALB2 G>A	16	23634437	23634437	G	A	PALB2	c.2849C>T	NM_024675.3	NP_078951.2:p.(Ser950Phe)	NC_000016.9:g.23634437G>A	(Likely) benign	1 lab	ec5ac1fa0b
7:116411441 MET T>C	7	116411441	116411441	T	C	MET	c.2785-111T>C	NM_001127500.1	NP_001120972.1:p.?	NC_000007.13:g.116411441T>C	(Likely) benign	1 lab	ec677c9016
14:71511856 PCNX1 C>T	14	71511856	71511856	C	T	PCNX1	c.3874C>T	NM_014982.3	NP_055797.2:p.(Leu1292Phe)	NC_000014.8:g.71511856C>T	VUS	1 lab	02cb960ca7
14:92488007 TRIP11 C>G	14	92488007	92488007	C	G	TRIP11	c.481G>C	NM_004239.4	NP_004230.2:p.(Asp161His)	NC_000014.8:g.92488007C>G	VUS	1 lab	02cd30cf05
14:94053227 UNC79 A>G	14	94053227	94053227	A	G	UNC79	c.3005A>G	NM_001395159.1	NP_001382088.1:p.(Tyr1002Cys)	NC_000014.8:g.94053227A>G	(Likely) benign	1 lab	02cdb8274f
10:89623678 PTEN C>CGCG	10	89623678	89623695	C	CGCG	PTEN	c.-533_-531dup	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89623693_89623695dup	(Likely) benign	1 lab	ed0d385620
13:32893172 BRCA2 T>C	13	32893172	32893172	T	C	BRCA2	c.68-42T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893172T>C	(Likely) benign	1 lab	ed2705abb3
13:32945041 BRCA2 A>G	13	32945041	32945041	A	G	BRCA2	c.8488-52A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32945041A>G	(Likely) benign	1 lab	ed4eee2a18
17:56809904 RAD51C AAGTC>A	17	56809904	56809911	AAGTC	A	RAD51C	c.1026+3_1026+6del	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56809908_56809911del	(Likely) pathogenic	1 lab	ed559d3b64
17:33433488 RAD51D G>A	17	33433488	33433488	G	A	RAD51D	c.493C>T	NM_002878.3	NP_002869.3:p.(Arg165Trp)	NC_000017.10:g.33433488G>A	VUS	1 lab	ed77918668
17:41246564 BRCA1 ACAT>A	17	41246564	41246567	ACAT	A	BRCA1	c.981_983del	NM_007294.4	NP_009225.1:p.(Cys328del)	NC_000017.10:g.41246565_41246567del	(Likely) pathogenic	1 lab	ed8d8c99b7
3:12693081 RAF1 T>C	3	12693081	12693081	T	C	RAF1	c.-27+12231A>G	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12693081T>C	VUS	1 lab	02ce32982b
19:11358788 DOCK6 G>A	19	11358788	11358788	G	A	DOCK6	c.760C>T	NM_020812.4	NP_065863.2:p.(Arg254Cys)	NC_000019.9:g.11358788G>A	(Likely) benign	1 lab	02cea2fa69
17:42941023 EFTUD2 A>C	17	42941023	42941023	A	C	EFTUD2	c.1413T>G	NM_004247.4	NP_004238.3:p.(Asp471Glu)	NC_000017.10:g.42941023A>C	VUS	1 lab	02cf9032fd
7:6035065 PMS2 A>C	7	6035065	6035065	A	C	PMS2	c.903+100T>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6035065A>C	(Likely) benign	1 lab	edcf4a320e
2:45171700 SIX3 C>T	2	45171700	45171700	C	T	SIX3	c.807-7C>T	NM_005413.4	NP_005404.1:p.?	NC_000002.11:g.45171700C>T	(Likely) benign	1 lab	02d1f0e279
15:52404679 BCL2L10 G>T	15	52404679	52404679	G	T	BCL2L10	c.245C>A	NM_020396.4	NP_065129.1:p.(Ala82Glu)	NC_000015.9:g.52404679G>T	(Likely) benign	1 lab	02d2517ab9
16:2147405 PKD1 GC>G	16	2147405	2147409	GC	G	PKD1	c.10319del	NM_001009944.3	NP_001009944.3:p.(Gly3440AlafsTer33)	NC_000016.9:g.2147409del	(Likely) pathogenic	1 lab	02d27cb2f6
11:108164268 ATM T>C	11	108164268	108164268	T	C	ATM	c.4776+64T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108164268T>C	(Likely) benign	1 lab	ee734e32ee
17:72588604 CD300LD-AS1 C>G	17	72588604	72588604	C	G	CD300LD-AS1	c.419C>G	NM_001302809.1	NP_001289738.1:p.(Thr140Ser)	NC_000017.10:g.72588604C>G	VUS	1 lab	1ee28ad81e
15:101567912 LRRK1 G>A	15	101567912	101567912	G	A	LRRK1	c.2596G>A	NM_024652.6	NP_078928.3:p.(Asp866Asn)	NC_000015.9:g.101567912G>A	(Likely) benign	1 lab	02d2ca1bfe
13:32912938 BRCA2 AAC>A	13	32912938	32912941	AAC	A	BRCA2	c.4448_4449del	NM_000059.4	NP_000050.3:p.(Thr1483ArgfsTer4)	NC_000013.10:g.32912940_32912941del	(Likely) pathogenic	1 lab	eecd3ed4b5
16:14947315 NOMO1 CT>C	16	14947315	14947316	CT	C	NOMO1	c.736-8del	NM_014287.4	NP_055102.3:p.?	NC_000016.9:g.14947316del	(Likely) benign	1 lab	02df3ae798
3:37067223 MLH1 CTATGCCCACCAG>C	3	37067223	37067235	CTATGCCCACCAG	C	MLH1	c.1135_1146del	NM_000249.4	NP_000240.1:p.(Tyr379_Gln382del)	NC_000003.11:g.37067224_37067235del	(Likely) pathogenic	1 lab	ef0cf109bd
17:41246323 BRCA1 CT>C	17	41246323	41246326	CT	C	BRCA1	c.1224del	NM_007294.4	NP_009225.1:p.(Val409Ter)	NC_000017.10:g.41246326del	(Likely) pathogenic	1 lab	ef0f57007e
13:32968836 BRCA2 T>C	13	32968836	32968836	T	C	BRCA2	c.9267T>C	NM_000059.3	NP_000050.2:p.(Pro3089=)	NC_000013.10:g.32968836T>C	(Likely) benign	1 lab	ef1ae5daf4
17:7574050 TP53 G>A	17	7574050	7574050	G	A	TP53	c.994-17C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7574050G>A	(Likely) benign	1 lab	ef46177418
17:41203221 BRCA1 A>C	17	41203221	41203221	A	C	BRCA1	c.5278-87T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203221A>C	(Likely) benign	1 lab	ef50b4d6e1
2:209212735 PIKFYVE G>A	2	209212735	209212735	G	A	PIKFYVE	c.5362G>A	NM_015040.4	NP_055855.2:p.(Val1788Ile)	NC_000002.11:g.209212735G>A	(Likely) benign	1 lab	02d37a70d2
17:41277581 BRCA1 G>C	17	41277581	41277581	G	C	BRCA1	c.-61-9785C>G	NM_001408458.1	NP_001395387.1:p.?	NC_000017.10:g.41277581G>C	VUS	1 lab	1f13d4bf6e
13:32968978 BRCA2 A>T	13	32968978	32968978	A	T	BRCA2	c.9409A>T	NM_000059.4	NP_000050.3:p.(Thr3137Ser)	NC_000013.10:g.32968978A>T	(Likely) benign	1 lab	f008325b10
1:44070853 PTPRF C>T	1	44070853	44070853	C	T	PTPRF	c.3136-8C>T	NM_002840.5	NP_002831.2:p.?	NC_000001.10:g.44070853C>T	(Likely) benign	1 lab	02d5221b82
13:32910661 BRCA2 C>CA	13	32910661	32910667	C	CA	BRCA2	c.2175dup	NM_000059.3	NP_000050.2:p.(Val726SerfsTer25)	NC_000013.10:g.32910667dup	(Likely) pathogenic	1 lab	f046827f81
13:32907155 BRCA2 G>A	13	32907155	32907155	G	A	BRCA2	c.1540G>A	NM_000059.4	NP_000050.3:p.(Glu514Lys)	NC_000013.10:g.32907155G>A	(Likely) benign	1 lab	f0843dd8ba
17:40086918 ODAD4 A>G	17	40086918	40086918	A	G	ODAD4	c.-59A>G	NM_031421.5	NP_113609.1:p.?	NC_000017.10:g.40086918A>G	VUS	1 lab	034027df50
X:153043867 PLXNB3 C>T	X	153043867	153043867	C	T	PLXNB3	c.5491C>T	NM_005393.3	NP_005384.2:p.(Arg1831Cys)	NC_000023.10:g.153043867C>T	(Likely) benign	1 lab	02d749720e
14:24470690 DHRS4L2 T>TA	14	24470690	24470691	T	TA	DHRS4L2	c.629_630insA	NM_198083.4	NP_932349.2:p.(His211AlafsTer69)	NC_000014.8:g.24470690_24470691insA	VUS	1 lab	02d98e585a
17:41215378 BRCA1 G>A	17	41215378	41215378	G	A	BRCA1	c.5165C>T	NM_007294.4	NP_009225.1:p.(Ser1722Phe)	NC_000017.10:g.41215378G>A	(Likely) pathogenic	1 lab	f0e3ecb3ff
2:157183242 NR4A2 C>T	2	157183242	157183242	C	T	NR4A2	c.1349G>A	NM_006186.4	NP_006177.1:p.(Arg450Gln)	NC_000002.11:g.157183242C>T	VUS	1 lab	02da2f1812
19:39027396 RYR1 A>AT	19	39027396	39027397	A	AT	RYR1	c.11598dup	NM_000540.3	NP_000531.2:p.(Arg3867SerfsTer11)	NC_000019.9:g.39027397dup	(Likely) pathogenic	1 lab	02dabb3e2c
11:70666771 SHANK2 G>A	11	70666771	70666771	G	A	SHANK2	c.1191C>T	NM_012309.5	NP_036441.2:p.(Ala397=)	NC_000011.9:g.70666771G>A	VUS	1 lab	02dc3575e4
11:126294836 KIRREL3 G>C	11	126294836	126294836	G	C	KIRREL3	c.1976C>G	NM_032531.4	NP_115920.1:p.(Pro659Arg)	NC_000011.9:g.126294836G>C	VUS	1 lab	02e2ef154e
2:160287640 BAZ2B GTATCTGATTCTGAATTAC>G	2	160287640	160287670	GTATCTGATTCTGAATTAC	G	BAZ2B	c.1910_1927del	NM_013450.4	NP_038478.2:p.(Ser637_Asp642del)	NC_000002.11:g.160287653_160287670del	VUS	1 lab	02dc39be0e
2:242163507 ANO7 C>T	2	242163507	242163507	C	T	ANO7	c.2584-5C>T	NM_001370694.2	NP_001357623.1:p.?	NC_000002.11:g.242163507C>T	(Likely) benign	1 lab	02dca2c304
2:47604292 EPCAM A>G	2	47604292	47604292	A	G	EPCAM	c.555+76A>G	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47604292A>G	(Likely) benign	1 lab	f1a370b30c
11:108153569 ATM A>T	11	108153569	108153569	A	T	ATM	c.3709A>T	NM_000051.4	NP_000042.3:p.(Ile1237Phe)	NC_000011.9:g.108153569A>T	VUS	1 lab	02dcf26f08
14:105179789 INF2 G>C	14	105179789	105179789	G	C	INF2				NC_000014.8:g.105179789G>C	(Likely) benign	1 lab	01c3a3d560
3:37067093 MLH1 ATA>TTT	3	37067093	37067095	ATA	TTT	MLH1	c.1039-35_1039-33delinsTTT	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067093_37067095delinsTTT	(Likely) benign	1 lab	f1bab09380
7:98567762 TRRAP A>G	7	98567762	98567762	A	G	TRRAP	c.7540A>G	NM_001375524.1	NP_001362453.1:p.(Thr2514Ala)	NC_000007.13:g.98567762A>G	VUS	1 lab	02dda4040c
6:91257087 MAP3K7 C>T	6	91257087	91257087	C	T	MAP3K7	c.1100G>A	NM_145331.3	NP_663304.1:p.(Ser367Asn)	NC_000006.11:g.91257087C>T	VUS	1 lab	02deb253f7
16:23615031 PALB2 C>T	16	23615031	23615031	C	T	PALB2	c.3351-41G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23615031C>T	VUS	1 lab	f338457927
17:59876309 BRIP1 A>C	17	59876309	59876309	A	C	BRIP1	c.1340+152T>G	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59876309A>C	(Likely) benign	1 lab	f343e68f46
11:113287579 DRD2 A>G	11	113287579	113287579	A	G	DRD2	c.532+6T>C	NM_000795.4	NP_000786.1:p.?	NC_000011.9:g.113287579A>G	VUS	1 lab	02dfb5f28c
3:17413590 TBC1D5 T>G	3	17413590	17413590	T	G	TBC1D5	c.972A>C	NM_001349074.2	NP_001336003.1:p.(Glu324Asp)	NC_000003.11:g.17413590T>G	VUS	1 lab	02e06a12ae
1:113255471 PPM1J G>A	1	113255471	113255471	G	A	PPM1J	c.624C>T	NM_005167.7	NP_005158.5:p.(Ser208=)	NC_000001.10:g.113255471G>A	(Likely) benign	1 lab	02e1526570
1:231132986 ARV1 A>G	1	231132986	231132986	A	G	ARV1	c.793A>G	NM_022786.3	NP_073623.1:p.(Ile265Val)	NC_000001.10:g.231132986A>G	(Likely) benign	1 lab	02e21f6cfb
13:32893429 BRCA2 GTA>G	13	32893429	32893431	GTA	G	BRCA2	c.284_285del	NM_000059.4	NP_000050.3:p.(Val95GlufsTer5)	NC_000013.10:g.32893430_32893431del	(Likely) pathogenic	1 lab	f4282ec0e6
17:7577029 TP53 G>GCTCCC	17	7577029	7577034	G	GCTCCC	TP53	c.904_908dup	NM_000546.5	NP_000537.3:p.(Ser303ArgfsTer44)	NC_000017.10:g.7577030_7577034dup	(Likely) pathogenic	1 lab	f42a65b887
13:32911296 BRCA2 ATAAAC>A	13	32911296	32911301	ATAAAC	A	BRCA2	c.2805_2809del	NM_000059.4	NP_000050.3:p.(Asp935GlufsTer8)	NC_000013.10:g.32911297_32911301del	(Likely) pathogenic	1 lab	f47684c7b9
X:100746710 ARMCX4 G>C	X	100746710	100746710	G	C	ARMCX4	c.3134G>C	NM_001256155.3	NP_001243084.2:p.(Arg1045Thr)	NC_000023.10:g.100746710G>C	VUS	1 lab	02e35b22d4
17:33444016 RAD51D T>C	17	33444016	33444016	T	C	RAD51D	c.263+1504A>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33444016T>C	(Likely) benign	1 lab	f492ee5a86
2:215632164 BARD1 A>G	2	215632164	215632164	A	G	BARD1	c.1568+42T>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215632164A>G	(Likely) benign	1 lab	f4d1bb6489
3:49761024 GMPPB G>T	3	49761024	49761024	G	T	GMPPB	c.129+7C>A	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49761024G>T	(Likely) benign	1 lab	02e42d5acc
2:215645255 BARD1 G>C	2	215645255	215645255	G	C	BARD1	c.1314+29C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215645255G>C	(Likely) benign	1 lab	f4e3b061c1
19:1244443 ATP5F1D C>T	19	1244443	1244443	C	T	ATP5F1D	c.*7C>T	NM_001687.5	NP_001678.1:p.?	NC_000019.9:g.1244443C>T	VUS	1 lab	02e5658efc
13:32914674 BRCA2 C>T	13	32914674	32914674	C	T	BRCA2	c.6182C>T	NM_000059.3	NP_000050.2:p.(Ala2061Val)	NC_000013.10:g.32914674C>T	VUS	1 lab	f4f53e3f60
13:32913196 BRCA2 G>C	13	32913196	32913196	G	C	BRCA2	c.4704G>C	NM_000059.3	NP_000050.2:p.(Lys1568Asn)	NC_000013.10:g.32913196G>C	(Likely) benign	1 lab	f539a89968
10:28196681 ODAD2 G>A	10	28196681	28196681	G	A	ODAD2	c.2521C>T	NM_018076.5	NP_060546.2:p.(Arg841Cys)	NC_000010.10:g.28196681G>A	VUS	1 lab	02e572d277
2:152376170 NEB A>G	2	152376170	152376170	A	G	NEB	c.22590+2T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152376170A>G	(Likely) pathogenic	1 lab	02e65ea7cb
X:79698316 TENT5D G>A	X	79698316	79698316	G	A	TENT5D	c.278G>A	NM_152630.5	NP_689843.1:p.(Gly93Asp)	NC_000023.10:g.79698316G>A	VUS	1 lab	02e75da462
X:105150416 NRK G>T	X	105150416	105150416	G	T	NRK	c.855G>T	NM_198465.4	NP_940867.2:p.(Lys285Asn)	NC_000023.10:g.105150416G>T	VUS	1 lab	02ebee191f
17:41215853 BRCA1 T>C	17	41215853	41215853	T	C	BRCA1	c.5152+38A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215853T>C	(Likely) benign	1 lab	f6f9f5fe83
13:32954271 BRCA2 TGA>T	13	32954271	32954273	TGA	T	BRCA2	c.9246_9247del	NM_000059.4	NP_000050.3:p.(Lys3084AsnfsTer26)	NC_000013.10:g.32954272_32954273del	(Likely) pathogenic	1 lab	f743f53563
7:4823951 AP5Z1 C>T	7	4823951	4823951	C	T	AP5Z1	c.739C>T	NM_014855.3	NP_055670.1:p.(Arg247Trp)	NC_000007.13:g.4823951C>T	VUS	1 lab	02ef3f7f83
19:42498348 ATP1A3 G>T	19	42498348	42498348	G	T	ATP1A3	c.-120C>A	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42498348G>T	VUS	1 lab	02ef57d969
15:57524906 TCF12 C>A	15	57524906	57524906	C	A	TCF12	c.826-4C>A	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57524906C>A	(Likely) benign	1 lab	02ef5e3056
1:34070968 CSMD2 G>A	1	34070968	34070968	G	A	CSMD2	c.6446C>T	NM_001281956.2	NP_001268885.1:p.(Pro2149Leu)	NC_000001.10:g.34070968G>A	VUS	1 lab	02f41b0372
X:32456378 DMD A>G	X	32456378	32456378	A	G	DMD	c.4051T>C	NM_004006.3	NP_003997.2:p.(Trp1351Arg)	NC_000023.10:g.32456378A>G	VUS	1 lab	02f4c06b4b
17:56774141 RAD51C T>G	17	56774141	56774141	T	G	RAD51C	c.492T>G	NM_058216.1	NP_478123.1:p.(Phe164Leu)	NC_000017.10:g.56774141T>G	VUS	1 lab	f7c7f8fa9c
11:108115588 ATM AAC>A	11	108115588	108115590	AAC	A	ATM	c.737_738del	NM_000051.4	NP_000042.3:p.(Asn246IlefsTer7)	NC_000011.9:g.108115589_108115590del	(Likely) pathogenic	1 lab	f80df8a3e8
17:41197728 BRCA1 G>GT	17	41197728	41197729	G	GT	BRCA1	c.5558dup	NM_007294.3	NP_009225.1:p.(Tyr1853Ter)	NC_000017.10:g.41197729dup	(Likely) pathogenic	1 lab	f81bdcd281
2:55527046 CCDC88A G>A	2	55527046	55527046	G	A	CCDC88A	c.4754C>T	NM_001365480.1	NP_001352409.1:p.(Pro1585Leu)	NC_000002.11:g.55527046G>A	VUS	1 lab	02f9a9aea1
1:193181693 CDC73 G>A	1	193181693	193181693	G	A	CDC73	c.1154+86G>A	NM_024529.4	NP_078805.3:p.?	NC_000001.10:g.193181693G>A	(Likely) benign	1 lab	f851825319
17:7578395 TP53 GG>AA	17	7578395	7578396	GG	AA	TP53	c.534_535delinsTT	NM_000546.5	NP_000537.3:p.(His179Tyr)	NC_000017.10:g.7578395_7578396delinsAA	(Likely) pathogenic	1 lab	f859740db6
1:109441502 GPSM2 G>A	1	109441502	109441502	G	A	GPSM2	c.683G>A	NM_013296.5	NP_037428.3:p.(Arg228His)	NC_000001.10:g.109441502G>A	VUS	1 lab	02faaf95a6
17:56770013 RAD51C G>C	17	56770013	56770013	G	C	RAD51C	c.9G>C	NM_058216.1	NP_478123.1:p.(Gly3=)	NC_000017.10:g.56770013G>C	(Likely) benign	1 lab	f880f6d9d6
11:108124539 ATM A>C	11	108124539	108124539	A	C	ATM	c.1899-2A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108124539A>C	(Likely) pathogenic	1 lab	f8b9b76410
11:108121852 ATM C>T	11	108121852	108121852	C	T	ATM	c.1607+53C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108121852C>T	(Likely) benign	1 lab	f8cd7b8187
19:51215352 SHANK1 C>G	19	51215352	51215352	C	G	SHANK1	c.812G>C	NM_016148.5	NP_057232.2:p.(Gly271Ala)	NC_000019.9:g.51215352C>G	(Likely) benign	1 lab	02fbbe98ea
19:50918708 POLD1 G>A	19	50918708	50918708	G	A	POLD1	c.2578G>A	NM_002691.4	NP_002682.2:p.(Ala860Thr)	NC_000019.9:g.50918708G>A	VUS	1 lab	02fc95358c
16:21031140 DNAH3 G>C	16	21031140	21031140	G	C	DNAH3	c.5690C>G	NM_001347886.2	NP_001334815.1:p.(Ser1897Ter)	NC_000016.9:g.21031140G>C	VUS	1 lab	0302d4abcd
13:32929056 BRCA2 TTTC>T	13	32929056	32929060	TTTC	T	BRCA2	c.7068_7070del	NM_000059.4	NP_000050.3:p.(Phe2356del)	NC_000013.10:g.32929058_32929060del	(Likely) pathogenic	1 lab	f91fcdc8c6
20:57485432 GNAS G>T	20	57485432	57485432	G	T	GNAS				NC_000020.10:g.57485432G>T	VUS	1 lab	0129c591e6
17:41256324 BRCA1 T>C	17	41256324	41256324	T	C	BRCA1	c.302-46A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256324T>C	(Likely) benign	1 lab	f93b690575
9:43625160 SPATA31A6 C>T	9	43625160	43625160	C	T	SPATA31A6	c.3527G>A	NM_001145196.1	NP_001138668.1:p.(Ser1176Asn)	NC_000009.11:g.43625160C>T	VUS	1 lab	02fc97240e
1:152286387 FLG C>T	1	152286387	152286387	C	T	FLG	c.975G>A	NM_002016.2	NP_002007.1:p.(Ala325=)	NC_000001.10:g.152286387C>T	(Likely) benign	1 lab	02fd726297
16:2814641 SRRM2 T>C	16	2814641	2814641	T	C	SRRM2	c.4112T>C	NM_016333.4	NP_057417.3:p.(Met1371Thr)	NC_000016.9:g.2814641T>C	(Likely) benign	1 lab	02fea3d13d
11:108117811 ATM TCAAAG>T	11	108117811	108117816	TCAAAG	T	ATM	c.1023_1027del	NM_000051.4	NP_000042.3:p.(Glu343PhefsTer3)	NC_000011.9:g.108117812_108117816del	(Likely) pathogenic	1 lab	f99dba64f3
19:11113983 SMARCA4 A>G	19	11113983	11113983	A	G	SMARCA4				NC_000019.9:g.11113983A>G	(Likely) benign	1 lab	f99ffef1da
X:105937256 RNF128 T>G	X	105937256	105937256	T	G	RNF128	c.24T>G	NM_024539.3	NP_078815.3:p.(Ser8Arg)	NC_000023.10:g.105937256T>G	VUS	1 lab	1f77ba427a
11:108150363 ATM TTATC>T	11	108150363	108150367	TTATC	T	ATM	c.3402+29_3402+32del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150364_108150367del	(Likely) benign	1 lab	f9b81cc01b
17:42338150 SLC4A1 C>T	17	42338150	42338150	C	T	SLC4A1	c.202G>A	NM_000342.4	NP_000333.1:p.(Glu68Lys)	NC_000017.10:g.42338150C>T	(Likely) benign	1 lab	02ff719392
11:108139042 ATM CT>C	11	108139042	108139050	CT	C	ATM	c.2639-87del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139050del	(Likely) benign	1 lab	fa1da4c928
2:48026913 MSH6 A>AAAAGGAAATCTCTC	2	48026913	48026935	A	AAAAGGAAATCTCTC	MSH6	c.1800_1813dup	NM_000179.3	NP_000170.1:p.(Thr605IlefsTer10)	NC_000002.11:g.48026922_48026935dup	(Likely) pathogenic	1 lab	fa3696f95e
10:61829549 ANK3 G>C	10	61829549	61829549	G	C	ANK3	c.11090C>G	NM_020987.5	NP_066267.2:p.(Ser3697Cys)	NC_000010.10:g.61829549G>C	(Likely) benign	1 lab	0301b7885e
7:6026357 PMS2 AAAAAGAG>A	7	6026357	6026368	AAAAAGAG	A	PMS2	c.2006+26_2006+32del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6026362_6026368del	(Likely) benign	1 lab	fa771166e3
1:116247829 CASQ2 G>A	1	116247829	116247829	G	A	CASQ2	c.923C>T	NM_001232.4	NP_001223.2:p.(Pro308Leu)	NC_000001.10:g.116247829G>A	(Likely) pathogenic	1 lab	03043c16b5
11:78282461 NARS2 T>C	11	78282461	78282461	T	C	NARS2	c.170A>G	NM_024678.6	NP_078954.4:p.(Lys57Arg)	NC_000011.9:g.78282461T>C	VUS	1 lab	03066c4988
17:41249364 BRCA1 A>T	17	41249364	41249364	A	T	BRCA1	c.548-58T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249364A>T	(Likely) benign	1 lab	faec3bbb06
1:220198503 EPRS1 G>C	1	220198503	220198503	G	C	EPRS1	c.721C>G	NM_004446.3	NP_004437.2:p.(Pro241Ala)	NC_000001.10:g.220198503G>C	VUS	1 lab	030703a60a
1:117635401 TTF2 G>A	1	117635401	117635401	G	A	TTF2	c.2854G>A	NM_003594.4	NP_003585.3:p.(Glu952Lys)	NC_000001.10:g.117635401G>A	(Likely) benign	1 lab	030739fb71
13:32912767 BRCA2 T>TA	13	32912767	32912768	T	TA	BRCA2	c.4276dup	NM_000059.3	NP_000050.2:p.(Thr1426AsnfsTer12)	NC_000013.10:g.32912768dup	(Likely) pathogenic	1 lab	fb4927a83e
16:79633070 MAF C>T	16	79633070	79633070	C	T	MAF	c.730G>A	NM_005360.5	NP_005351.2:p.(Gly244Ser)	NC_000016.9:g.79633070C>T	(Likely) benign	1 lab	0307dbaed3
17:41246813 BRCA1 ATCAT>A	17	41246813	41246818	ATCAT	A	BRCA1	c.731_734del	NM_007294.4	NP_009225.1:p.(Asn244IlefsTer2)	NC_000017.10:g.41246815_41246818del	VUS	1 lab	fb907e2912
11:108203696 ATM T>C	11	108203696	108203696	T	C	ATM	c.7927+69T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108203696T>C	(Likely) benign	1 lab	fb9d9e42a9
3:37067075 MLH1 CTATA>C	3	37067075	37067100	CTATA	C	MLH1	c.1039-31_1039-28del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067100del	(Likely) benign	1 lab	fba4e24030
13:32929292 BRCA2 GCA>G	13	32929292	32929294	GCA	G	BRCA2	c.7303_7304del	NM_000059.4	NP_000050.3:p.(Gln2435LysfsTer3)	NC_000013.10:g.32929293_32929294del	(Likely) pathogenic	1 lab	fbb6ba9c8e
5:71493161 MAP1B G>A	5	71493161	71493161	G	A	MAP1B	c.3979G>A	NM_005909.5	NP_005900.2:p.(Val1327Met)	NC_000005.9:g.71493161G>A	(Likely) benign	1 lab	030aee2457
20:9498779 LAMP5 C>T	20	9498779	9498779	C	T	LAMP5	c.568C>T	NM_012261.4	NP_036393.1:p.(Leu190=)	NC_000020.10:g.9498779C>T	(Likely) benign	1 lab	030f95e2c6
12:7055032 C12orf57 A>G	12	7055032	7055032	A	G	C12orf57				NC_000012.11:g.7055032A>G	VUS	1 lab	57b7e0bf6b
7:148513877 EZH2 A>G	7	148513877	148513877	A	G	EZH2	c.1411-7T>C	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148513877A>G	(Likely) benign	1 lab	031093d33b
2:120395829 CFAP221 C>T	2	120395829	120395829	C	T	CFAP221	c.1975-6C>T	NM_001271049.2	NP_001257978.2:p.?	NC_000002.11:g.120395829C>T	VUS	1 lab	0310ba316f
13:32893329 BRCA2 A>G	13	32893329	32893329	A	G	BRCA2	c.183A>G	NM_000059.3	NP_000050.2:p.(Leu61=)	NC_000013.10:g.32893329A>G	(Likely) benign	1 lab	fceac62c7c
16:23625230 PALB2 G>A	16	23625230	23625230	G	A	PALB2	c.3201+95C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23625230G>A	(Likely) benign	1 lab	fd05d875cb
13:32900636 BRCA2 G>T	13	32900636	32900636	G	T	BRCA2	c.517G>T	NM_000059.3	NP_000050.2:p.(Gly173Cys)	NC_000013.10:g.32900636G>T	VUS	1 lab	fd1dc23a21
17:33430448 RAD51D C>G	17	33430448	33430448	C	G	RAD51D	c.667+25G>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430448C>G	(Likely) benign	1 lab	fd28edfb37
4:15542617 CC2D2A C>A	4	15542617	15542617	C	A	CC2D2A	c.2161C>A	NM_001378615.1	NP_001365544.1:p.(Pro721Thr)	NC_000004.11:g.15542617C>A	VUS	1 lab	0310c34712
17:41246446 BRCA1 C>T	17	41246446	41246446	C	T	BRCA1	c.1102G>A	NM_007294.3	NP_009225.1:p.(Glu368Lys)	NC_000017.10:g.41246446C>T	(Likely) benign	1 lab	fdb21b6181
2:48033545 MSH6 A>C	2	48033545	48033545	A	C	MSH6	c.3802-46A>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033545A>C	(Likely) benign	1 lab	fdc5689949
13:33017975 N4BP2L2 T>G	13	33017975	33017975	T	G	N4BP2L2	c.654A>C	NM_001278432.1	NP_001265361.1:p.(Lys218Asn)	NC_000013.10:g.33017975T>G	VUS	1 lab	20889f8ebe
19:48918129 GRIN2D CG>AA	19	48918129	48918130	CG	AA	GRIN2D	c.1421_1422delinsAA	NM_000836.4	NP_000827.2:p.(Pro474Gln)	NC_000019.9:g.48918129_48918130delinsAA	VUS	1 lab	0310d8bc52
11:108155280 ATM G>A	11	108155280	108155280	G	A	ATM	c.3993+80G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155280G>A	(Likely) benign	1 lab	fe84f95b36
17:41203022 BRCA1 C>T	17	41203022	41203022	C	T	BRCA1	c.5332+58G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203022C>T	(Likely) benign	1 lab	feb91d0c0e
2:25457258 DNMT3A C>CGTCA	2	25457258	25457264	C	CGTCA	DNMT3A	c.2625_2628dup	NM_022552.5	NP_072046.2:p.(Val877Ter)	NC_000002.11:g.25457261_25457264dup	(Likely) pathogenic	1 lab	0311dfdcc8
2:215610678 BARD1 T>C	2	215610678	215610678	T	C	BARD1	c.1678-100A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215610678T>C	(Likely) benign	1 lab	fec53eada6
13:32914951 BRCA2 A>G	13	32914951	32914951	A	G	BRCA2	c.6459A>G	NM_000059.3	NP_000050.2:p.(Pro2153=)	NC_000013.10:g.32914951A>G	(Likely) benign	1 lab	fec590a448
11:108216429 ATM CACA>C	11	108216429	108216433	CACA	C	ATM	c.8419-39_8419-37del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108216431_108216433del	(Likely) benign	1 lab	fece1ce3b4
3:37067093 MLH1 ATATATAT>A	3	37067093	37067101	ATATATAT	A	MLH1	c.1039-33_1039-27del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067101del	(Likely) benign	1 lab	fed3016726
11:62469980 BSCL2 G>A	11	62469980	62469980	G	A	BSCL2				NC_000011.9:g.62469980G>A	VUS	1 lab	0327b86ee5
2:74757026 HTRA2 C>A	2	74757026	74757026	C	A	HTRA2	c.-108C>A	NM_001321727.1	NP_001308656.1:p.?	NC_000002.11:g.74757026C>A	VUS	1 lab	2f46bd3c9a
17:41258361 BRCA1 T>C	17	41258361	41258361	T	C	BRCA1	c.212+112A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258361T>C	(Likely) benign	1 lab	fefb068387
17:59861532 BRIP1 C>T	17	59861532	59861532	C	T	BRIP1	c.1628+99G>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59861532C>T	(Likely) benign	1 lab	ff0faa44f0
2:215645490 BARD1 G>A	2	215645490	215645490	G	A	BARD1	c.1108C>T	NM_000465.4	NP_000456.2:p.(Arg370Cys)	NC_000002.11:g.215645490G>A	(Likely) benign	1 lab	ff4bcc43f2
13:32914192 BRCA2 A>G	13	32914192	32914192	A	G	BRCA2	c.5700A>G	NM_000059.3	NP_000050.2:p.(Ser1900=)	NC_000013.10:g.32914192A>G	(Likely) benign	1 lab	ff628cca2d
17:41245682 BRCA1 C>T	17	41245682	41245682	C	T	BRCA1	c.1866G>A	NM_007294.3	NP_009225.1:p.(Ala622=)	NC_000017.10:g.41245682C>T	(Likely) benign	1 lab	ff7b0c0601
17:7574034 TP53 C>T	17	7574034	7574034	C	T	TP53	c.994-1G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7574034C>T	(Likely) pathogenic	1 lab	ff9a461ab3
13:32906692 BRCA2 A>G	13	32906692	32906692	A	G	BRCA2	c.1077A>G	NM_000059.3	NP_000050.2:p.(Glu359=)	NC_000013.10:g.32906692A>G	(Likely) benign	1 lab	ffb731112d
22:40660806 TNRC6B T>C	22	40660806	40660806	T	C	TNRC6B	c.572T>C	NM_001162501.2	NP_001155973.1:p.(Ile191Thr)	NC_000022.10:g.40660806T>C	VUS	1 lab	03143a87e3
14:105167860 INF2 T>G	14	105167860	105167860	T	G	INF2	c.158T>G	NM_022489.3	NP_071934.3:p.(Leu53Arg)	NC_000014.8:g.105167860T>G	(Likely) pathogenic	1 lab	00000a757a
6:32008874 TNXB G>C	6	32008874	32008874	G	C	TNXB				NC_000006.11:g.32008874G>C	(Likely) pathogenic	1 lab	0002e8edca
8:38282031 FGFR1 A>G	8	38282031	38282031	A	G	FGFR1	c.932T>C	NM_023110.2	NP_075598.2:p.(Leu311Ser)	NC_000008.10:g.38282031A>G	VUS	1 lab	000358d581
7:128486119 FLNC C>T	7	128486119	128486119	C	T	FLNC	c.3866C>T	NM_001458.4	NP_001449.3:p.(Thr1289Met)	NC_000007.13:g.128486119C>T	(Likely) benign	1 lab	00039a2190
4:123747943 FGF2 G>C	4	123747943	123747943	G	C	FGF2	c.13G>C	NM_002006.4	NP_001997.5:p.(Gly5Arg)	NC_000004.11:g.123747943G>C	(Likely) benign	1 lab	20c22d7087
9:140051376 GRIN1 G>A	9	140051376	140051376	G	A	GRIN1	c.855G>A	NM_007327.3	NP_015566.1:p.(Val285=)	NC_000009.11:g.140051376G>A	(Likely) benign	1 lab	00093789b1
1:216420241 USH2A C>T	1	216420241	216420241	C	T	USH2A	c.2495G>A	NM_206933.2	NP_996816.2:p.(Gly832Glu)	NC_000001.10:g.216420241C>T	VUS	1 lab	0009b02507
1:53676097 CPT2 T>G	1	53676097	53676097	T	G	CPT2	c.751T>G	NM_000098.3	NP_000089.1:p.(Phe251Val)	NC_000001.10:g.53676097T>G	VUS	1 lab	000acca02c
20:33582008 MYH7B C>T	20	33582008	33582008	C	T	MYH7B	c.2630C>T	NM_020884.4	NP_065935.3:p.(Ser877Leu)	NC_000020.10:g.33582008C>T	(Likely) benign	1 lab	000c955dcc
15:40831437 CCDC32 C>T	15	40831437	40831437	C	T	CCDC32	c.402-6936G>A	NM_001289132.1	NP_001276061.1:p.?	NC_000015.9:g.40831437C>T	VUS	1 lab	21260be27e
10:126091499 OAT G>C	10	126091499	126091499	G	C	OAT	c.897C>G	NM_000274.3	NP_000265.1:p.(Tyr299Ter)	NC_000010.10:g.126091499G>C	(Likely) pathogenic	1 lab	0010fd61dd
X:41333874 NYX G>T	X	41333874	41333874	G	T	NYX	c.1168G>T	NM_022567.2	NP_072089.1:p.(Glu390Ter)	NC_000023.10:g.41333874G>T	(Likely) pathogenic	1 lab	0013ba4898
11:533881 HRAS C>T	11	533881	533881	C	T	HRAS	c.175G>A	NM_005343.2	NP_005334.1:p.(Ala59Thr)	NC_000011.9:g.533881C>T	(Likely) pathogenic	1 lab	001458222b
X:108921331 ACSL4 G>C	X	108921331	108921331	G	C	ACSL4	c.816C>G	NM_001318510.2	NP_001305439.1:p.(Asp272Glu)	NC_000023.10:g.108921331G>C	VUS	1 lab	001759607f
15:90631844 IDH2 A>G	15	90631844	90631844	A	G	IDH2	c.509T>C	NM_002168.3	NP_002159.2:p.(Ile170Thr)	NC_000015.9:g.90631844A>G	VUS	1 lab	001a15159d
8:10469152 RP1L1 C>G	8	10469152	10469152	C	G	RP1L1	c.2456G>C	NM_178857.6	NP_849188.4:p.(Gly819Ala)	NC_000008.10:g.10469152C>G	VUS	1 lab	001a926528
2:210843430 UNC80 A>T	2	210843430	210843430	A	T	UNC80	c.8918A>T	NM_032504.1	NP_115893.1:p.(Glu2973Val)	NC_000002.11:g.210843430A>T	VUS	1 lab	001f370dee
11:134014225 JAM3 G>A	11	134014225	134014225	G	A	JAM3	c.346G>A	NM_032801.4	NP_116190.3:p.(Glu116Lys)	NC_000011.9:g.134014225G>A	(Likely) pathogenic	1 lab	0021523119
2:233406173 CHRNG G>A	2	233406173	233406173	G	A	CHRNG	c.440G>A	NM_005199.5	NP_005190.4:p.(Arg147His)	NC_000002.11:g.233406173G>A	VUS	1 lab	00226d8a75
X:48933021 WDR45 A>T	X	48933021	48933021	A	T	WDR45	c.830+2T>A	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48933021A>T	(Likely) pathogenic	1 lab	0026fa621d
6:32007792 TNXB T>C	6	32007792	32007792	T	C	TNXB				NC_000006.11:g.32007792T>C	VUS	1 lab	00282900e8
1:121304161 EMBP1 A>G	1	121304161	121304161	A	G	EMBP1	n.752+8A>G	NR_003955.1		NC_000001.10:g.121304161A>G	(Likely) benign	1 lab	21418abee3
20:10624471 JAG1 G>A	20	10624471	10624471	G	A	JAG1	c.2413C>T	NM_000214.3	NP_000205.1:p.(Arg805Trp)	NC_000020.10:g.10624471G>A	VUS	1 lab	002bf3eb63
2:149226528 MBD5 CT>C	2	149226528	149226529	CT	C	MBD5	c.1017del	NM_018328.5	NP_060798.2:p.(Pro340LeufsTer12)	NC_000002.11:g.149226529del	(Likely) pathogenic	1 lab	003013eeab
7:100225834 TFR2 G>C	7	100225834	100225834	G	C	TFR2	c.1473+13C>G	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100225834G>C	(Likely) benign	1 lab	00324aeaaf
15:43908845 STRC A>G	15	43908845	43908845	A	G	STRC	c.919T>C	NM_153700.2	NP_714544.1:p.(Phe307Leu)	NC_000015.9:g.43908845A>G	VUS	1 lab	0032981766
8:145140500 GPAA1 CAG>C	8	145140500	145140502	CAG	C	GPAA1	c.1477_1478del	NM_003801.3	NP_003792.1:p.(Arg493GlyfsTer152)	NC_000008.10:g.145140501_145140502del	(Likely) pathogenic	1 lab	0034b2804c
13:77570128 CLN5 G>A	13	77570128	77570128	G	A	CLN5	c.578G>A	NM_006493.2	NP_006484.1:p.(Cys193Tyr)	NC_000013.10:g.77570128G>A	(Likely) pathogenic	1 lab	0034b76ca6
2:71886163 DYSF G>T	2	71886163	71886163	G	T	DYSF	c.4911G>T	NM_001130987.1	NP_001124459.1:p.(Lys1637Asn)	NC_000002.11:g.71886163G>T	VUS	1 lab	0036bd93ed
7:91691568 AKAP9 C>G	7	91691568	91691568	C	G	AKAP9	c.5765-20C>G	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91691568C>G	(Likely) benign	1 lab	003e3a70a1
9:131375741 SPTAN1 G>A	9	131375741	131375741	G	A	SPTAN1	c.5125G>A	NM_001130438.2	NP_001123910.1:p.(Glu1709Lys)	NC_000009.11:g.131375741G>A	VUS	1 lab	004063150d
20:57429449 GNAS G>C	20	57429449	57429449	G	C	GNAS	c.942G>C	NM_001077490.1	NP_001070958.1:p.(Arg314=)	NC_000020.10:g.57429449G>C	(Likely) benign	1 lab	2157d7e28c
19:50826868 KCNC3 A>G	19	50826868	50826868	A	G	KCNC3	c.1342T>C	NM_004977.2	NP_004968.2:p.(Phe448Leu)	NC_000019.9:g.50826868A>G	(Likely) pathogenic	1 lab	004177fedb
11:76905468 MYO7A C>G	11	76905468	76905468	C	G	MYO7A	c.4222C>G	NM_000260.3	NP_000251.3:p.(Arg1408Gly)	NC_000011.9:g.76905468C>G	VUS	1 lab	0042663281
8:61765270 CHD7 G>A	8	61765270	61765270	G	A	CHD7	c.6103+5G>A	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61765270G>A	(Likely) pathogenic	1 lab	004595e207
X:153197526 NAA10 A>C	X	153197526	153197526	A	C	NAA10				NC_000023.10:g.153197526A>C	(Likely) pathogenic	1 lab	004aaf4243
18:29078227 DSG2 C>G	18	29078227	29078227	C	G	DSG2	c.13C>G	NM_001943.3	NP_001934.2:p.(Pro5Ala)	NC_000018.9:g.29078227C>G	(Likely) benign	1 lab	004ddaa369
1:17084304 MST1L C>T	1	17084304	17084304	C	T	MST1L	c.1713G>A	NM_001271733.1	NP_001258662.1:p.(Trp571Ter)	NC_000001.10:g.17084304C>T	VUS	1 lab	21b4dbb70d
14:30069008 PRKD1 C>T	14	30069008	30069008	C	T	PRKD1	c.1921G>A	NM_002742.3	NP_002733.2:p.(Gly641Ser)	NC_000014.8:g.30069008C>T	(Likely) benign	1 lab	00537e16af
11:119155886 CBL C>T	11	119155886	119155886	C	T	CBL				NC_000011.9:g.119155886C>T	(Likely) benign	1 lab	03dc3027b2
9:71679898 FXN T>A	9	71679898	71679898	T	A	FXN	c.429T>A	NM_000144.4	NP_000135.2:p.(Tyr143Ter)	NC_000009.11:g.71679898T>A	(Likely) pathogenic	1 lab	00569726cb
3:38597235 SCN5A A>T	3	38597235	38597235	A	T	SCN5A	c.4451T>A	NM_000335.5	NP_000326.2:p.(Ile1484Asn)	NC_000003.11:g.38597235A>T	(Likely) pathogenic	1 lab	00590c2180
10:267282 ZMYND11 T>C	10	267282	267282	T	C	ZMYND11	c.424T>C	NM_006624.5	NP_006615.2:p.(Cys142Arg)	NC_000010.10:g.267282T>C	(Likely) benign	1 lab	005a00da5e
16:31475698 ARMC5 C>T	16	31475698	31475698	C	T	ARMC5	c.1371-17C>T	NM_001105247.2	NP_001098717.1:p.?	NC_000016.9:g.31475698C>T	(Likely) benign	1 lab	005b411998
16:2164538 PKD1 G>A	16	2164538	2164538	G	A	PKD1	c.2486C>T	NM_001009944.3	NP_001009944.3:p.(Pro829Leu)	NC_000016.9:g.2164538G>A	VUS	1 lab	005bf955ea
3:134293659 CEP63 A>T	3	134293659	134293659	A	T	CEP63	c.1354A>T	NM_001042384.1	NP_001035843.1:p.(Ser452Cys)	NC_000003.11:g.134293659A>T	(Likely) benign	1 lab	222b0bb7e4
6:161152905 PLG C>T	6	161152905	161152905	C	T	PLG	c.1567C>T	NM_000301.3	NP_000292.1:p.(Arg523Trp)	NC_000006.11:g.161152905C>T	VUS	1 lab	006a12de6d
1:39549960 MACF1 C>CGGTCTTGTCG	1	39549960	39549962	C	CGGTCTTGTCG	MACF1	c.71_72insGTCTTGTCGG	NM_012090.4	NP_036222.3:p.(Tyr26CysfsTer29)	NC_000001.10:g.39549961_39549962insGTCTTGTCGG	VUS	1 lab	22e274c9be
8:145018138 PLEC G>A	8	145018138	145018138	G	A	PLEC	c.194-5278C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145018138G>A	VUS	1 lab	237dc64b75
1:229568621 ACTA1 T>C	1	229568621	229568621	T	C	ACTA1	c.136A>G	NM_001100.4	NP_001091.1:p.(Met46Val)	NC_000001.10:g.229568621T>C	VUS	1 lab	0070b7c9ed
X:49851192 CLCN5 C>T	X	49851192	49851192	C	T	CLCN5	c.1012C>T	NM_000084.4	NP_000075.1:p.(Arg338Cys)	NC_000023.10:g.49851192C>T	VUS	1 lab	00714a879d
19:11559458 PRKCSH A>G	19	11559458	11559458	A	G	PRKCSH	c.1265+14A>G	NM_002743.2	NP_002734.2:p.?	NC_000019.9:g.11559458A>G	(Likely) benign	1 lab	0072df2e44
12:111776131 CUX2 G>A	12	111776131	111776131	G	A	CUX2	c.3238G>A	NM_015267.3	NP_056082.2:p.(Gly1080Ser)	NC_000012.11:g.111776131G>A	VUS	1 lab	0073d65c43
X:153995320 DKC1 G>T	X	153995320	153995320	G	T	DKC1	c.497G>T	NM_001363.4	NP_001354.1:p.(Gly166Val)	NC_000023.10:g.153995320G>T	(Likely) benign	1 lab	007d23bb50
17:18638260 TRIM16L G>A	17	18638260	18638260	G	A	TRIM16L	n.1240G>A	NR_172633.1		NC_000017.10:g.18638260G>A	VUS	1 lab	38706a36be
15:90172774 KIF7 G>A	15	90172774	90172774	G	A	KIF7	c.3349C>T	NM_198525.2	NP_940927.2:p.(Gln1117Ter)	NC_000015.9:g.90172774G>A	(Likely) pathogenic	1 lab	007e675a09
X:10699955 MID1 G>T	X	10699955	10699955	G	T	MID1	c.-57+151718C>A	NM_033290.3	NP_150632.1:p.?	NC_000023.10:g.10699955G>T	(Likely) benign	1 lab	2404ea9d47
15:35085538 ACTC1 A>G	15	35085538	35085538	A	G	ACTC1	c.362T>C	NM_005159.4	NP_005150.1:p.(Met121Thr)	NC_000015.9:g.35085538A>G	VUS	1 lab	0081f3deed
2:39278337 SOS1 TCTGTCATTTCTA>T	2	39278337	39278353	TCTGTCATTTCTA	T	SOS1	c.800_811del	NM_005633.4	NP_005624.2:p.(Val267_Thr270del)	NC_000002.11:g.39278342_39278353del	VUS	1 lab	008a425f77
22:24325149 GSTT2 G>A	22	24325149	24325149	G	A	GSTT2	c.439G>A	NM_000854.3	NP_000845.1:p.(Glu147Lys)	NC_000022.10:g.24325149G>A	VUS	1 lab	2507ab3145
15:63335993 TPM1 A>T	15	63335993	63335993	A	T	TPM1	c.203A>T	NM_001018007.1	NP_001018007.1:p.(Glu68Val)	NC_000015.9:g.63335993A>T	VUS	1 lab	008ff5c19a
7:107434300 SLC26A3 ATTCTCTTGGCCTT>A	7	107434300	107434315	ATTCTCTTGGCCTT	A	SLC26A3	c.145_157del	NM_000111.2	NP_000102.1:p.(Lys49LeufsTer8)	NC_000007.13:g.107434303_107434315del	(Likely) pathogenic	1 lab	0092d0f06c
10:112581368 RBM20 G>A	10	112581368	112581368	G	A	RBM20	c.2991G>A	NM_001134363.2	NP_001127835.2:p.(Val997=)	NC_000010.10:g.112581368G>A	(Likely) benign	1 lab	009374916b
5:112043550 APC A>C	5	112043550	112043550	A	C	APC	c.136A>C	NM_001127511.2	NP_001120983.2:p.(Thr46Pro)	NC_000005.9:g.112043550A>C	VUS	1 lab	25794517f5
1:228503605 OBSCN C>T	1	228503605	228503605	C	T	OBSCN	c.13070C>T	NM_052843.3	NP_443075.3:p.(Ala4357Val)	NC_000001.10:g.228503605C>T	VUS	1 lab	0096151619
2:198351804 HSPD1 C>G	2	198351804	198351804	C	G	HSPD1	c.1688G>C	NM_002156.4	NP_002147.2:p.(Gly563Ala)	NC_000002.11:g.198351804C>G	(Likely) benign	1 lab	00984faac4
16:23619326 PALB2 A>G	16	23619326	23619326	A	G	PALB2	c.3209T>C	NM_024675.3	NP_078951.2:p.(Leu1070Pro)	NC_000016.9:g.23619326A>G	VUS	1 lab	00994bff11
19:13387927 CACNA1A C>CA	19	13387927	13387930	C	CA	CACNA1A	c.3840dup	NM_001127221.1	NP_001120693.1:p.(Asp1281Ter)	NC_000019.9:g.13387930dup	(Likely) pathogenic	1 lab	009ce06992
2:5833076 SOX11 C>T	2	5833076	5833076	C	T	SOX11	c.223C>T	NM_003108.4	NP_003099.1:p.(His75Tyr)	NC_000002.11:g.5833076C>T	(Likely) pathogenic	1 lab	009da76917
11:108121589 ATM A>G	11	108121589	108121589	A	G	ATM	c.1397A>G	NM_000051.3	NP_000042.3:p.(Gln466Arg)	NC_000011.9:g.108121589A>G	VUS	1 lab	009e509143
13:32930567 BRCA2 T>G	13	32930567	32930567	T	G	BRCA2	c.7438T>G	NM_000059.3	NP_000050.2:p.(Leu2480Val)	NC_000013.10:g.32930567T>G	(Likely) benign	1 lab	009f46d139
17:4836861 GP1BA C>A	17	4836861	4836861	C	A	GP1BA	c.962C>A	NM_000173.6	NP_000164.5:p.(Thr321Asn)	NC_000017.10:g.4836861C>A	VUS	1 lab	00a0b1923e
17:6331803 AIPL1 T>C	17	6331803	6331803	T	C	AIPL1	c.300A>G	NM_014336.3	NP_055151.3:p.(Leu100=)	NC_000017.10:g.6331803T>C	(Likely) benign	1 lab	00a0c7dc38
1:216371801 USH2A T>C	1	216371801	216371801	T	C	USH2A	c.3937A>G	NM_206933.2	NP_996816.2:p.(Asn1313Asp)	NC_000001.10:g.216371801T>C	VUS	1 lab	00a214be39
X:64222522 ZC4H2 G>C	X	64222522	64222522	G	C	ZC4H2	c.-272+31987C>G	NM_001178032.2	NP_001171503.1:p.?	NC_000023.10:g.64222522G>C	VUS	1 lab	257dcdc7bb
3:121973113 CASR C>T	3	121973113	121973113	C	T	CASR				NC_000003.11:g.121973113C>T	VUS	1 lab	00a4f37515
12:80169789 PPP1R12A GTAACA>G	12	80169789	80169795	GTAACA	G	PPP1R12A	c.3008_3012del	NM_002480.2	NP_002471.1:p.(Met1003ThrfsTer13)	NC_000012.11:g.80169791_80169795del	VUS	1 lab	00a9567ec9
17:41234454 BRCA1 G>A	17	41234454	41234454	G	A	BRCA1	c.4324C>T	NM_007294.4	NP_009225.1:p.(Leu1442=)	NC_000017.10:g.41234454G>A	(Likely) benign	1 lab	00aa613e68
16:23652701 PALB2 G>A	16	23652701	23652701	G	A	PALB2				NC_000016.9:g.23652701G>A	(Likely) benign	1 lab	0591c7ae95
17:37333677 CACNB1 G>A	17	37333677	37333677	G	A	CACNB1				NC_000017.10:g.37333677G>A	VUS	1 lab	00b23dd87e
16:2137942 TSC2 G>C	16	2137942	2137942	G	C	TSC2	c.5068G>C	NM_000548.5	NP_000539.2:p.(Asp1690His)	NC_000016.9:g.2137942G>C	(Likely) pathogenic	1 lab	00b259b6a5
10:104591321 CYP17A1 A>G	10	104591321	104591321	A	G	CYP17A1	c.1187T>C	NM_000102.3	NP_000093.1:p.(Leu396Pro)	NC_000010.10:g.104591321A>G	(Likely) pathogenic	1 lab	00b429fe02
13:115057128 UPF3A G>A	13	115057128	115057128	G	A	UPF3A	c.707G>A	NM_023011.3	NP_075387.1:p.(Arg236Gln)	NC_000013.10:g.115057128G>A	VUS	1 lab	00b7c731ec
2:74135898 ACTG2 A>G	2	74135898	74135898	A	G	ACTG2	c.354A>G	NM_001615.3	NP_001606.1:p.(Glu118=)	NC_000002.11:g.74135898A>G	(Likely) benign	1 lab	00bfc547d7
2:121726296 GLI2 G>A	2	121726296	121726296	G	A	GLI2	c.650G>A	NM_005270.4	NP_005261.2:p.(Arg217His)	NC_000002.11:g.121726296G>A	VUS	1 lab	00c093147d
19:17746945 UNC13A G>A	19	17746945	17746945	G	A	UNC13A	c.3103C>T	NM_001080421.2	NP_001073890.2:p.(Pro1035Ser)	NC_000019.9:g.17746945G>A	VUS	1 lab	00c338be94
14:23884978 MYH7 T>C	14	23884978	23884978	T	C	MYH7	c.5017A>G	NM_000257.3	NP_000248.2:p.(Ile1673Val)	NC_000014.8:g.23884978T>C	VUS	1 lab	00c3a73a8f
16:23640904 PALB2 A>C	16	23640904	23640904	A	C	PALB2	c.2514+57T>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640904A>C	(Likely) benign	1 lab	00f7aa5b3f
X:153296081 MECP2 TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA>T	X	153296081	153296127	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA	T	MECP2	c.1157_1197del	NM_004992.3	NP_004983.1:p.(Leu386HisfsTer5)	NC_000023.10:g.153296087_153296127del	(Likely) pathogenic	1 lab	00c947c9c5
10:10838871 CELF2 G>A	10	10838871	10838871	G	A	CELF2	c.-56+114414G>A	NM_001326317.1	NP_001313246.1:p.?	NC_000010.10:g.10838871G>A	VUS	1 lab	25a64f2fa7
7:44179406 MYL7 C>T	7	44179406	44179406	C	T	MYL7	c.352G>A	NM_021223.2	NP_067046.1:p.(Gly118Ser)	NC_000007.13:g.44179406C>T	(Likely) benign	1 lab	00cb2298ec
1:241671946 FH C>T	1	241671946	241671946	C	T	FH	c.695G>A	NM_000143.4	NP_000134.2:p.(Gly232Glu)	NC_000001.10:g.241671946C>T	(Likely) pathogenic	1 lab	00cb3f8701
20:42815005 JPH2 A>G	20	42815005	42815005	A	G	JPH2	c.341T>C	NM_020433.4	NP_065166.2:p.(Leu114Pro)	NC_000020.10:g.42815005A>G	VUS	1 lab	00cd3fc922
1:237829846 RYR2 G>A	1	237829846	237829846	G	A	RYR2				NC_000001.10:g.237829846G>A	VUS	1 lab	00cd4e58c3
14:23884291 MYH7 A>G	14	23884291	23884291	A	G	MYH7	c.5472T>C	NM_000257.2	NP_000248.2:p.(Asn1824=)	NC_000014.8:g.23884291A>G	(Likely) benign	1 lab	00ceda8697
8:10465399 RP1L1 T>A	8	10465399	10465399	T	A	RP1L1	c.6209A>T	NM_178857.5	NP_849188.4:p.(Glu2070Val)	NC_000008.10:g.10465399T>A	(Likely) benign	1 lab	00cfb6a879
3:148459884 AGTR1 A>G	3	148459884	148459884	A	G	AGTR1	c.1062A>G	NM_000685.4	NP_000676.1:p.(Pro354=)	NC_000003.11:g.148459884A>G	(Likely) benign	1 lab	00d0c46918
7:117232691 CFTR AT>A	7	117232691	117232693	AT	A	CFTR	c.2472del	NM_000492.4	NP_000483.3:p.(Asn825ThrfsTer5)	NC_000007.13:g.117232693del	(Likely) pathogenic	1 lab	00d44bf74d
16:148181 NPRL3 G>A	16	148181	148181	G	A	NPRL3	c.886C>T	NM_001077350.3	NP_001070818.1:p.(Gln296Ter)	NC_000016.9:g.148181G>A	(Likely) pathogenic	1 lab	00d5c61cc8
21:44838330 SIK1 C>A	21	44838330	44838330	C	A	SIK1	c.1554G>T	NM_173354.3	NP_775490.2:p.(Ala518=)	NC_000021.8:g.44838330C>A	(Likely) benign	1 lab	00d927e115
9:136295166 ADAMTS13 G>A	9	136295166	136295166	G	A	ADAMTS13	c.932G>A	NM_139025.5	NP_620594.1:p.(Cys311Tyr)	NC_000009.11:g.136295166G>A	VUS	1 lab	00dabbbdb7
2:25466799 DNMT3A C>T	2	25466799	25466799	C	T	DNMT3A	c.1904G>A	NM_022552.4	NP_072046.2:p.(Arg635Gln)	NC_000002.11:g.25466799C>T	(Likely) pathogenic	1 lab	00dcff51e2
9:98211319 PTCH1 A>G	9	98211319	98211319	A	G	PTCH1	c.3804+32T>C	NM_000264.4	NP_000255.2:p.?	NC_000009.11:g.98211319A>G	(Likely) benign	1 lab	011dc473c8
6:152694288 SYNE1 G>A	6	152694288	152694288	G	A	SYNE1	c.9391C>T	NM_182961.3	NP_892006.3:p.(Leu3131=)	NC_000006.11:g.152694288G>A	(Likely) benign	1 lab	00e133740f
9:2729733 KCNV2 T>C	9	2729733	2729733	T	C	KCNV2	c.*6T>C	NM_133497.3	NP_598004.1:p.?	NC_000009.11:g.2729733T>C	(Likely) benign	1 lab	00e1a9ae7a
6:70847625 COL19A1 C>T	6	70847625	70847625	C	T	COL19A1	c.1432C>T	NM_001858.4	NP_001849.2:p.(Gln478Ter)	NC_000006.11:g.70847625C>T	VUS	1 lab	00e6cbb1a9
19:1222037 STK11 G>A	19	1222037	1222037	G	A	STK11	c.920+32G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222037G>A	(Likely) benign	1 lab	00e9dcf0b0
1:27106937 ARID1A G>A	1	27106937	27106937	G	A	ARID1A	c.6548G>A	NM_006015.4	NP_006006.3:p.(Arg2183His)	NC_000001.10:g.27106937G>A	VUS	1 lab	00edd8c640
1:236924481 ACTN2 T>C	1	236924481	236924481	T	C	ACTN2	c.2526+8T>C	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236924481T>C	(Likely) benign	1 lab	00f1654774
X:99956616 SYTL4 C>A	X	99956616	99956616	C	A	SYTL4	c.164G>T	NM_080737.2	NP_542775.2:p.(Ser55Ile)	NC_000023.10:g.99956616C>A	VUS	1 lab	00f3f18622
17:62018868 SCN4A T>C	17	62018868	62018868	T	C	SCN4A	c.4774A>G	NM_000334.4	NP_000325.4:p.(Met1592Val)	NC_000017.10:g.62018868T>C	(Likely) pathogenic	1 lab	00ff6fd9ab
2:91842943 LSP1P4 T>C	2	91842943	91842943	T	C	LSP1P4	n.254+3A>G	NR_027238.1		NC_000002.11:g.91842943T>C	VUS	1 lab	2601cac106
2:167129173 SCN9A A>C	2	167129173	167129173	A	C	SCN9A	c.3054T>G	NM_002977.3	NP_002968.1:p.(Asp1018Glu)	NC_000002.11:g.167129173A>C	(Likely) benign	1 lab	01010a9cac
2:207011624 NDUFS1 T>C	2	207011624	207011624	T	C	NDUFS1	c.737+3A>G	NM_005006.6	NP_004997.4:p.?	NC_000002.11:g.207011624T>C	(Likely) pathogenic	1 lab	0107b94b5a
1:152282818 FLG G>T	1	152282818	152282818	G	T	FLG	c.4544C>A	NM_002016.1	NP_002007.1:p.(Ser1515Ter)	NC_000001.10:g.152282818G>T	(Likely) pathogenic	1 lab	01094e8b3b
17:44293145 KANSL1 G>A	17	44293145	44293145	G	A	KANSL1	c.-90+7892C>T	NM_001193465.1	NP_001180394.1:p.?	NC_000017.10:g.44293145G>A	VUS	1 lab	29337ac1b9
5:112173259 APC AAG>A	5	112173259	112173266	AAG	A	APC	c.1974_1975del	NM_000038.6	NP_000029.2:p.(Asn659GlnfsTer14)	NC_000005.9:g.112173265_112173266del	(Likely) pathogenic	1 lab	0109fae90c
18:24130529 KCTD1 G>GAC	18	24130529	24130569	G	GAC	KCTD1	c.10-49317_10-49316dup	NM_001258222.1	NP_001245151.1:p.?	NC_000018.9:g.24130568_24130569dup	(Likely) benign	1 lab	268b8987ce
20:57438017 GNAS GA>G	20	57438017	57438033	GA	G	GNAS	c.1881+7645del	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57438033del	(Likely) benign	1 lab	26ad8d6941
X:65476123 HEPH C>T	X	65476123	65476123	C	T	HEPH	c.3009C>T	NM_138737.5	NP_620074.3:p.(Gly1003=)	NC_000023.10:g.65476123C>T	VUS	1 lab	010fe3309d
1:2129566 FAAP20 T>G	1	2129566	2129566	T	G	FAAP20	c.65A>C	NM_001146310.1	NP_001139782.1:p.(His22Pro)	NC_000001.10:g.2129566T>G	VUS	1 lab	27d3323b16
2:32362075 SPAST T>TTATA	2	32362075	32362077	T	TTATA	SPAST	c.1413+39_1413+40insATAT	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32362076_32362077insATAT	(Likely) benign	1 lab	01107078be
1:94486922 ABCA4 A>G	1	94486922	94486922	A	G	ABCA4	c.4892T>C	NM_000350.2	NP_000341.2:p.(Leu1631Pro)	NC_000001.10:g.94486922A>G	(Likely) pathogenic	1 lab	0111f29ba4
9:35689950 TPM2 A>T	9	35689950	35689950	A	T	TPM2	c.-136T>A	NM_213674.1	NP_998839.1:p.?	NC_000009.11:g.35689950A>T	(Likely) benign	1 lab	011231cbcf
11:123513209 SCN3B C>A	11	123513209	123513209	C	A	SCN3B	c.390G>T	NM_018400.3	NP_060870.1:p.(Ala130=)	NC_000011.9:g.123513209C>A	(Likely) benign	1 lab	0112eb4b93
17:29654515 NF1 A>T	17	29654515	29654515	A	T	NF1	c.5206-2A>T	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29654515A>T	(Likely) pathogenic	1 lab	0113855450
14:64589051 SYNE2 C>T	14	64589051	64589051	C	T	SYNE2	c.13328C>T	NM_182914.2	NP_878918.2:p.(Ser4443Leu)	NC_000014.8:g.64589051C>T	(Likely) benign	1 lab	0117c47a08
7:42063066 GLI3 C>G	7	42063066	42063066	C	G	GLI3	c.1497+1G>C	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42063066C>G	(Likely) pathogenic	1 lab	0117d60071
2:228172588 COL4A3 CT>C	2	228172588	228172592	CT	C	COL4A3	c.4419del	NM_000091.4	NP_000082.2:p.(Leu1474PhefsTer55)	NC_000002.11:g.228172592del	(Likely) pathogenic	1 lab	011aa7fa08
20:10628658 JAG1 C>T	20	10628658	10628658	C	T	JAG1	c.1670G>A	NM_000214.2	NP_000205.1:p.(Gly557Asp)	NC_000020.10:g.10628658C>T	(Likely) pathogenic	1 lab	011b30b67d
12:123738464 MTRFR C>G	12	123738464	123738464	C	G	MTRFR	c.243C>G	NM_152269.4	NP_689482.1:p.(Cys81Trp)	NC_000012.11:g.123738464C>G	VUS	1 lab	011d5e6c72
4:1808904 FGFR3 GC>G	4	1808904	1808905	GC	G	FGFR3	c.2343del	NM_001163213.1	NP_001156685.1:p.(Ser782ProfsTer40)	NC_000004.11:g.1808905del	VUS	1 lab	012dd58888
5:112111439 APC G>A	5	112111439	112111439	G	A	APC	c.531+5G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111439G>A	(Likely) pathogenic	1 lab	0133681452
1:94568687 ABCA4 G>A	1	94568687	94568687	G	A	ABCA4	c.454C>T	NM_000350.2	NP_000341.2:p.(Arg152Ter)	NC_000001.10:g.94568687G>A	(Likely) pathogenic	1 lab	013373dc56
1:241667347 FH A>G	1	241667347	241667347	A	G	FH	c.1103T>C	NM_000143.4	NP_000134.2:p.(Met368Thr)	NC_000001.10:g.241667347A>G	(Likely) pathogenic	1 lab	0134ead4ab
12:2693685 CACNA1C G>C	12	2693685	2693685	G	C	CACNA1C	c.2241G>C	NM_000719.6	NP_000710.5:p.(Val747=)	NC_000012.11:g.2693685G>C	(Likely) benign	1 lab	0138ab5475
14:24727852 TGM1 C>T	14	24727852	24727852	C	T	TGM1	c.1187G>A	NM_000359.2	NP_000350.1:p.(Arg396His)	NC_000014.8:g.24727852C>T	(Likely) pathogenic	1 lab	013a0a4698
1:216370040 USH2A G>A	1	216370040	216370040	G	A	USH2A	c.4106C>T	NM_206933.4	NP_996816.3:p.(Ser1369Leu)	NC_000001.10:g.216370040G>A	(Likely) pathogenic	1 lab	013d20c840
17:68171604 KCNJ2 A>G	17	68171604	68171604	A	G	KCNJ2	c.424A>G	NM_000891.3	NP_000882.1:p.(Thr142Ala)	NC_000017.10:g.68171604A>G	VUS	1 lab	013d95cb12
3:15499704 COLQ G>A	3	15499704	15499704	G	A	COLQ	c.943C>T	NM_005677.3	NP_005668.2:p.(Arg315Ter)	NC_000003.11:g.15499704G>A	(Likely) pathogenic	1 lab	013f48defb
1:228482719 OBSCN G>A	1	228482719	228482719	G	A	OBSCN	c.12921G>A	NM_001271223.2	NP_001258152.2:p.(Arg4307=)	NC_000001.10:g.228482719G>A	(Likely) benign	1 lab	0141e12f1f
17:62492594 POLG2 C>A	17	62492594	62492594	C	A	POLG2	c.493G>T	NM_007215.4	NP_009146.2:p.(Glu165Ter)	NC_000017.10:g.62492594C>A	(Likely) pathogenic	1 lab	0142705564
11:108128175 ATM T>A	11	108128175	108128175	T	A	ATM	c.2251-33T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128175T>A	(Likely) benign	1 lab	01449e9064
2:179659886 TTN G>A	2	179659886	179659886	G	A	TTN	c.1008C>T	NM_001267550.2	NP_001254479.2:p.(Ala336=)	NC_000002.11:g.179659886G>A	(Likely) benign	1 lab	0145414088
7:6013059 PMS2 C>T	7	6013059	6013059	C	T	PMS2	c.2560G>A	NM_000535.7	NP_000526.2:p.(Ala854Thr)	NC_000007.13:g.6013059C>T	VUS	1 lab	014680425d
20:57430373 GNAS C>T	20	57430373	57430373	C	T	GNAS	c.1866C>T	NM_001077490.1	NP_001070958.1:p.(Thr622=)	NC_000020.10:g.57430373C>T	VUS	1 lab	2958f9a8c5
19:45998346 RTN2 C>A	19	45998346	45998346	C	A	RTN2				NC_000019.9:g.45998346C>A	(Likely) benign	1 lab	01c77aac3e
8:10466592 RP1L1 G>C	8	10466592	10466592	G	C	RP1L1	c.5016C>G	NM_178857.6	NP_849188.4:p.(Pro1672=)	NC_000008.10:g.10466592G>C	(Likely) benign	1 lab	0154639bce
12:46245121 ARID2 CA>C	12	46245121	46245122	CA	C	ARID2	c.3216del	NM_152641.3	NP_689854.2:p.(Pro1073GlnfsTer83)	NC_000012.11:g.46245122del	(Likely) pathogenic	1 lab	015bfc5df5
10:121411221 BAG3 G>A	10	121411221	121411221	G	A	BAG3	c.34G>A	NM_004281.3	NP_004272.2:p.(Val12Met)	NC_000010.10:g.121411221G>A	(Likely) benign	1 lab	015e5819de
X:53228018 KDM5C G>A	X	53228018	53228018	G	A	KDM5C	c.2296C>T	NM_004187.3	NP_004178.2:p.(Arg766Trp)	NC_000023.10:g.53228018G>A	VUS	1 lab	0163fe4845
X:115303970 AGTR2 T>C	X	115303970	115303970	T	C	AGTR2	c.437T>C	NM_000686.4	NP_000677.2:p.(Val146Ala)	NC_000023.10:g.115303970T>C	(Likely) benign	1 lab	016b4b2f5c
2:45170012 SIX3 C>G	2	45170012	45170012	C	G	SIX3	c.769C>G	NM_005413.3	NP_005404.1:p.(Arg257Gly)	NC_000002.11:g.45170012C>G	(Likely) pathogenic	1 lab	017482f977
8:38001858 STAR T>C	8	38001858	38001858	T	C	STAR	c.791A>G	NM_000349.3	NP_000340.2:p.(Gln264Arg)	NC_000008.10:g.38001858T>C	(Likely) pathogenic	1 lab	01775e662c
19:6690742 C3 A>G	19	6690742	6690742	A	G	C3	c.3391-4T>C	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6690742A>G	(Likely) benign	1 lab	0178196294
6:112476106 LAMA4 T>G	6	112476106	112476106	T	G	LAMA4	c.2003A>C	NM_001105206.2	NP_001098676.2:p.(Glu668Ala)	NC_000006.11:g.112476106T>G	VUS	1 lab	01799c2b3c
2:165994476 SCN3A A>G	2	165994476	165994476	A	G	SCN3A	c.2304T>C	NM_006922.4	NP_008853.3:p.(Ile768=)	NC_000002.11:g.165994476A>G	(Likely) benign	1 lab	017eb05290
1:215972365 USH2A C>A	1	215972365	215972365	C	A	USH2A				NC_000001.10:g.215972365C>A	VUS	1 lab	57e828e21b
2:179432899 TTN G>A	2	179432899	179432899	G	A	TTN	c.77960C>T	NM_001267550.2	NP_001254479.2:p.(Pro25987Leu)	NC_000002.11:g.179432899G>A	VUS	1 lab	0184b5ca00
4:110685847 CFI C>T	4	110685847	110685847	C	T	CFI	c.329-1G>A	NM_000204.5	NP_000195.3:p.?	NC_000004.11:g.110685847C>T	(Likely) pathogenic	1 lab	0184ff220a
12:80660310 OTOGL G>A	12	80660310	80660310	G	A	OTOGL	c.2277G>A	NM_173591.3	NP_775862.3:p.(Pro759=)	NC_000012.11:g.80660310G>A	VUS	1 lab	0187813f92
4:655987 PDE6B G>A	4	655987	655987	G	A	PDE6B	c.1679G>A	NM_000283.3	NP_000274.2:p.(Arg560His)	NC_000004.11:g.655987G>A	VUS	1 lab	01878d9b52
6:6182275 F13A1 G>A	6	6182275	6182275	G	A	F13A1	c.1405C>T	NM_000129.3	NP_000120.2:p.(Gln469Ter)	NC_000006.11:g.6182275G>A	(Likely) pathogenic	1 lab	01893259a7
10:89692911 PTEN G>A	10	89692911	89692911	G	A	PTEN	c.395G>A	NM_000314.4	NP_000305.3:p.(Gly132Asp)	NC_000010.10:g.89692911G>A	(Likely) pathogenic	1 lab	018a0c12c1
14:105167906 INF2 C>G	14	105167906	105167906	C	G	INF2				NC_000014.8:g.105167906C>G	VUS	1 lab	018e09bc50
2:179578857 TTN G>T	2	179578857	179578857	G	T	TTN	c.26528C>A	NM_001267550.2	NP_001254479.2:p.(Thr8843Lys)	NC_000002.11:g.179578857G>T	(Likely) benign	1 lab	018f56fea3
16:90001548 TUBB3 C>T	16	90001548	90001548	C	T	TUBB3	c.689C>T	NM_006086.4	NP_006077.2:p.(Ser230Leu)	NC_000016.9:g.90001548C>T	(Likely) pathogenic	1 lab	0190feebab
7:6031640 PMS2 A>G	7	6031640	6031640	A	G	PMS2	c.952T>C	NM_000535.7	NP_000526.2:p.(Tyr318His)	NC_000007.13:g.6031640A>G	VUS	1 lab	0191950128
2:73613031 ALMS1 TGGAGGAGGAGGAGGAGGAGGAGGA>T	2	73613031	73613070	TGGAGGAGGAGGAGGAGGAGGAGGA	T	ALMS1	c.51_77del	NM_015120.4	NP_055935.4:p.(Glu21_Glu29del)	NC_000002.11:g.73613047_73613070del	VUS	1 lab	0193192ff6
8:61654935 CHD7 A>G	8	61654935	61654935	A	G	CHD7	c.944A>G	NM_017780.3	NP_060250.2:p.(Tyr315Cys)	NC_000008.10:g.61654935A>G	VUS	1 lab	0193432c33
7:143018934 CLCN1 G>A	7	143018934	143018934	G	A	CLCN1	c.689G>A	NM_000083.2	NP_000074.2:p.(Gly230Glu)	NC_000007.13:g.143018934G>A	(Likely) pathogenic	1 lab	0194adb434
5:112179620 APC G>A	5	112179620	112179620	G	A	APC	c.8329G>A	NM_000038.6	NP_000029.2:p.(Val2777Ile)	NC_000005.9:g.112179620G>A	VUS	1 lab	01961e6a66
11:121058611 TECTA G>A	11	121058611	121058611	G	A	TECTA				NC_000011.9:g.121058611G>A	VUS	1 lab	019bb9fd8b
19:6712540 C3 T>C	19	6712540	6712540	T	C	C3	c.1098A>G	NM_000064.3	NP_000055.2:p.(Pro366=)	NC_000019.9:g.6712540T>C	VUS	1 lab	019f78bda2
6:44272396 AARS2 G>A	6	44272396	44272396	G	A	AARS2	c.1738C>T	NM_020745.3	NP_065796.1:p.(Arg580Trp)	NC_000006.11:g.44272396G>A	(Likely) pathogenic	1 lab	01a00c19df
11:17409349 KCNJ11 T>C	11	17409349	17409349	T	C	KCNJ11	c.290A>G	NM_000525.3	NP_000516.3:p.(His97Arg)	NC_000011.9:g.17409349T>C	VUS	1 lab	01a36f197f
4:1801570 FGFR3 C>G	4	1801570	1801570	C	G	FGFR3	c.445+31C>G	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1801570C>G	(Likely) benign	1 lab	01a539c069
6:56499365 DST C>T	6	56499365	56499365	C	T	DST	c.1778G>A	NM_001723.5	NP_001714.1:p.(Arg593His)	NC_000006.11:g.56499365C>T	VUS	1 lab	01a56e4743
11:47370111 MYBPC3 G>A	11	47370111	47370111	G	A	MYBPC3	c.655-19C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370111G>A	(Likely) benign	1 lab	01a73bb3f4
X:107840771 COL4A5 A>G	X	107840771	107840771	A	G	COL4A5	c.1752A>G	NM_033380.3	NP_203699.1:p.(Pro584=)	NC_000023.10:g.107840771A>G	(Likely) benign	1 lab	01a7aa12ae
17:41201136 BRCA1 A>C	17	41201136	41201136	A	C	BRCA1	c.5406+2T>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41201136A>C	(Likely) pathogenic	1 lab	01aac30130
18:21134722 NPC1 C>T	18	21134722	21134722	C	T	NPC1	c.1553G>A	NM_000271.4	NP_000262.2:p.(Arg518Gln)	NC_000018.9:g.21134722C>T	(Likely) pathogenic	1 lab	01ae59f485
2:230701683 TRIP12 A>G	2	230701683	230701683	A	G	TRIP12	c.1151T>C	NM_001348323.3	NP_001335252.1:p.(Leu384Pro)	NC_000002.11:g.230701683A>G	VUS	1 lab	01aebdc6ed
9:139840543 C8G A>G	9	139840543	139840543	A	G	C8G	c.353A>G	NM_000606.2	NP_000597.2:p.(Asp118Gly)	NC_000009.11:g.139840543A>G	(Likely) benign	1 lab	01af590ebb
X:48370290 PORCN A>G	X	48370290	48370290	A	G	PORCN				NC_000023.10:g.48370290A>G	VUS	1 lab	01b0036124
1:55464881 BSND C>T	1	55464881	55464881	C	T	BSND	c.22C>T	NM_057176.2	NP_476517.1:p.(Arg8Trp)	NC_000001.10:g.55464881C>T	(Likely) pathogenic	1 lab	01b017190d
X:44950110 KDM6A G>A	X	44950110	44950110	G	A	KDM6A	c.4034+1G>A	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44950110G>A	(Likely) pathogenic	1 lab	01b275fa97
12:49225026 DDX23 C>T	12	49225026	49225026	C	T	DDX23	c.2138G>A	NM_004818.3	NP_004809.2:p.(Gly713Glu)	NC_000012.11:g.49225026C>T	VUS	1 lab	01b4c98d66
5:148406768 SH3TC2 C>T	5	148406768	148406768	C	T	SH3TC2	c.2527G>A	NM_024577.3	NP_078853.2:p.(Gly843Arg)	NC_000005.9:g.148406768C>T	VUS	1 lab	01b4e7156f
12:80707236 OTOGL T>A	12	80707236	80707236	T	A	OTOGL	c.3424-20T>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80707236T>A	(Likely) benign	1 lab	01b835b97e
3:23963074 RPL15 T>C	3	23963074	23963074	T	C	RPL15	c.361-15T>C	NM_001253384.1	NP_001240313.1:p.?	NC_000003.11:g.23963074T>C	(Likely) benign	1 lab	29fd507895
11:108175535 ATM T>C	11	108175535	108175535	T	C	ATM	c.5630T>C	NM_000051.3	NP_000042.3:p.(Phe1877Ser)	NC_000011.9:g.108175535T>C	(Likely) benign	1 lab	01baad683d
9:21974678 CDKN2A T>G	9	21974678	21974678	T	G	CDKN2A	c.149A>C	NM_000077.4	NP_000068.1:p.(Gln50Pro)	NC_000009.11:g.21974678T>G	(Likely) pathogenic	1 lab	01c405937f
17:18046081 MYO15A AG>A	17	18046081	18046082	AG	A	MYO15A	c.5838del	NM_016239.4	NP_057323.3:p.(Gln1946HisfsTer3)	NC_000017.10:g.18046082del	(Likely) pathogenic	1 lab	01c63a5403
17:37762099 NEUROD2 G>C	17	37762099	37762099	G	C	NEUROD2	c.754C>G	NM_006160.3	NP_006151.3:p.(Gln252Glu)	NC_000017.10:g.37762099G>C	VUS	1 lab	01c7c36b37
18:52946781 TCF4 C>T	18	52946781	52946781	C	T	TCF4	c.655+1G>A	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.52946781C>T	(Likely) pathogenic	1 lab	01c92ab989
22:21348879 LZTR1 G>A	22	21348879	21348879	G	A	LZTR1	c.1648G>A	NM_006767.4	NP_006758.2:p.(Val550Met)	NC_000022.10:g.21348879G>A	(Likely) pathogenic	1 lab	01c9f1d2fb
7:81600125 CACNA2D1 T>C	7	81600125	81600125	T	C	CACNA2D1	c.2142-72A>G	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81600125T>C	(Likely) benign	1 lab	01ca403872
16:18858848 SMG1 T>C	16	18858848	18858848	T	C	SMG1	c.5923A>G	NM_015092.4	NP_055907.3:p.(Met1975Val)	NC_000016.9:g.18858848T>C	VUS	1 lab	01caadb98d
22:41531841 EP300 G>A	22	41531841	41531841	G	A	EP300	c.1553G>A	NM_001429.4	NP_001420.2:p.(Gly518Glu)	NC_000022.10:g.41531841G>A	(Likely) benign	1 lab	01cf0266b2
2:25470573 DNMT3A G>A	2	25470573	25470573	G	A	DNMT3A	c.901C>T	NM_022552.5	NP_072046.2:p.(Arg301Trp)	NC_000002.11:g.25470573G>A	(Likely) pathogenic	1 lab	01cff88aa9
2:238296417 COL6A3 C>T	2	238296417	238296417	C	T	COL6A3	c.1120G>A	NM_004369.3	NP_004360.2:p.(Val374Met)	NC_000002.11:g.238296417C>T	(Likely) benign	1 lab	01d27cca33
2:48032051 MSH6 T>G	2	48032051	48032051	T	G	MSH6	c.3441T>G	NM_000179.3	NP_000170.1:p.(Ala1147=)	NC_000002.11:g.48032051T>G	(Likely) benign	1 lab	01d2f2ed0a
16:89357032 ANKRD11 C>T	16	89357032	89357032	C	T	ANKRD11	c.601+1G>A	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89357032C>T	(Likely) pathogenic	1 lab	01d7c2e387
X:53240839 KDM5C T>C	X	53240839	53240839	T	C	KDM5C	c.1243-2A>G	NM_004187.3	NP_004178.2:p.?	NC_000023.10:g.53240839T>C	(Likely) pathogenic	1 lab	01d96c541f
4:6303959 WFS1 G>A	4	6303959	6303959	G	A	WFS1	c.2437G>A	NM_006005.3	NP_005996.2:p.(Val813Met)	NC_000004.11:g.6303959G>A	VUS	1 lab	01ddff400c
17:19244624 B9D1 C>T	17	19244624	19244624	C	T	B9D1	c.*2399G>A	NM_001321215.2	NP_001308144.1:p.?	NC_000017.10:g.19244624C>T	VUS	1 lab	2a01878de4
3:39226364 XIRP1 C>T	3	39226364	39226364	C	T	XIRP1	c.4573G>A	NM_194293.2	NP_919269.2:p.(Ala1525Thr)	NC_000003.11:g.39226364C>T	VUS	1 lab	01e0700638
2:167168084 SCN9A G>T	2	167168084	167168084	G	T	SCN9A	c.183C>A	NM_002977.3	NP_002968.1:p.(Phe61Leu)	NC_000002.11:g.167168084G>T	(Likely) benign	1 lab	01e0a806a5
16:4849730 ROGDI C>T	16	4849730	4849730	C	T	ROGDI	c.389G>A	NM_024589.2	NP_078865.1:p.(Arg130Gln)	NC_000016.9:g.4849730C>T	VUS	1 lab	01e171667a
20:62078168 KCNQ2 G>A	20	62078168	62078168	G	A	KCNQ2	c.319C>T	NM_172107.3	NP_742105.1:p.(Leu107Phe)	NC_000020.10:g.62078168G>A	VUS	1 lab	01e1ebf058
1:196871717 CFHR4 T>C	1	196871717	196871717	T	C	CFHR4	c.228T>C	NM_001201550.2	NP_001188479.1:p.(Asp76=)	NC_000001.10:g.196871717T>C	(Likely) benign	1 lab	01e44669f9
4:15603069 CC2D2A G>C	4	15603069	15603069	G	C	CC2D2A	c.*21G>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15603069G>C	(Likely) benign	1 lab	01e71a7886
X:20195135 RPS6KA3 G>A	X	20195135	20195135	G	A	RPS6KA3	c.913C>T	NM_004586.2	NP_004577.1:p.(Arg305Ter)	NC_000023.10:g.20195135G>A	(Likely) pathogenic	1 lab	01e734cfd8
11:2909499 SLC67A1-AS C>CG	11	2909499	2909503	C	CG	SLC67A1-AS	n.1004dup	NR_169304.1		NC_000011.9:g.2909503dup	(Likely) benign	1 lab	2a1bab00b0
1:116244010 CASQ2 T>C	1	116244010	116244010	T	C	CASQ2	c.1052A>G	NM_001232.4	NP_001223.2:p.(Asp351Gly)	NC_000001.10:g.116244010T>C	VUS	1 lab	01e9d955b0
5:131728241 SLC22A5 G>A	5	131728241	131728241	G	A	SLC22A5	c.1456G>A	NM_001308122.1	NP_001295051.1:p.(Gly486Ser)	NC_000005.9:g.131728241G>A	VUS	1 lab	01ef73e29f
16:1817300 MAPK8IP3 C>G	16	1817300	1817300	C	G	MAPK8IP3	c.3216+2C>G	NM_001040439.1	NP_001035529.1:p.?	NC_000016.9:g.1817300C>G	(Likely) pathogenic	1 lab	01f03f8904
5:112103041 APC G>T	5	112103041	112103041	G	T	APC	c.376G>T	NM_000038.6	NP_000029.2:p.(Gly126Ter)	NC_000005.9:g.112103041G>T	(Likely) pathogenic	1 lab	01f1bf2503
5:161494631 GABRG2 G>C	5	161494631	161494631	G	C	GABRG2	c.-375G>C	NM_001375339.1	NP_001362268.1:p.?	NC_000005.9:g.161494631G>C	(Likely) benign	1 lab	2b7714f259
11:76871317 MYO7A G>A	11	76871317	76871317	G	A	MYO7A	c.1189G>A	NM_000260.3	NP_000251.3:p.(Ala397Thr)	NC_000011.9:g.76871317G>A	(Likely) pathogenic	1 lab	01f331878c
13:100637381 ZIC2 G>A	13	100637381	100637381	G	A	ZIC2	c.1239+18G>A	NM_007129.4	NP_009060.2:p.?	NC_000013.10:g.100637381G>A	(Likely) benign	1 lab	01f4168d0e
22:20640690 FAM230J G>GATGCCGTGCACGGCATCCTCGTTAGCA	22	20640690	20640725	G	GATGCCGTGCACGGCATCCTCGTTAGCA	FAM230J	n.474+2508_475-2532dup	NR_136569.1		NC_000022.10:g.20640699_20640725dup	(Likely) benign	1 lab	2ba27b8919
5:178413883 GRM6 C>T	5	178413883	178413883	C	T	GRM6	c.1456G>A	NM_000843.3	NP_000834.2:p.(Gly486Arg)	NC_000005.9:g.178413883C>T	VUS	1 lab	01f904a7ec
5:149631371 CAMK2A G>T	5	149631371	149631371	G	T	CAMK2A				NC_000005.9:g.149631371G>T	(Likely) pathogenic	1 lab	01fa328596
2:61412649 AHSA2P T>G	2	61412649	61412649	T	G	AHSA2P	n.1942T>G	NR_152210.1		NC_000002.11:g.61412649T>G	(Likely) benign	1 lab	2d040f9817
7:6026679 PMS2 T>A	7	6026679	6026679	T	A	PMS2	c.1717A>T	NM_000535.6	NP_000526.2:p.(Thr573Ser)	NC_000007.13:g.6026679T>A	(Likely) benign	1 lab	01fd20ff20
13:32914374 BRCA2 G>T	13	32914374	32914374	G	T	BRCA2	c.5882G>T	NM_000059.3	NP_000050.2:p.(Ser1961Ile)	NC_000013.10:g.32914374G>T	(Likely) benign	1 lab	01fd48f31c
10:95930948 PLCE1 G>A	10	95930948	95930948	G	A	PLCE1	c.1504G>A	NM_016341.4	NP_057425.3:p.(Gly502Ser)	NC_000010.10:g.95930948G>A	(Likely) benign	1 lab	02000b017b
7:83610698 SEMA3A G>A	7	83610698	83610698	G	A	SEMA3A				NC_000007.13:g.83610698G>A	(Likely) benign	1 lab	0201c0f4c3
1:197009777 F13B A>C	1	197009777	197009777	A	C	F13B	c.1827T>G	NM_001994.3	NP_001985.2:p.(Gly609=)	NC_000001.10:g.197009777A>C	(Likely) benign	1 lab	0203e6ac64
6:152652639 SYNE1 A>C	6	152652639	152652639	A	C	SYNE1	c.13181T>G	NM_182961.3	NP_892006.3:p.(Leu4394Arg)	NC_000006.11:g.152652639A>C	VUS	1 lab	02051fea52
9:139390728 NOTCH1 T>C	9	139390728	139390728	T	C	NOTCH1	c.7463A>G	NM_017617.5	NP_060087.3:p.(His2488Arg)	NC_000009.11:g.139390728T>C	VUS	1 lab	0205f75e55
16:1257426 CACNA1H C>A	16	1257426	1257426	C	A	CACNA1H	c.3059C>A	NM_021098.3	NP_066921.2:p.(Ala1020Glu)	NC_000016.9:g.1257426C>A	VUS	1 lab	02072a92ba
17:7788303 CHD3 G>A	17	7788303	7788303	G	A	CHD3	c.179G>A	NM_001005271.2	NP_001005271.2:p.(Arg60Gln)	NC_000017.10:g.7788303G>A	VUS	1 lab	2bd5603ad8
2:227966148 COL4A4 C>T	2	227966148	227966148	C	T	COL4A4	c.1029+72G>A	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227966148C>T	(Likely) benign	1 lab	0210263187
13:32913618 BRCA2 A>G	13	32913618	32913618	A	G	BRCA2	c.5126A>G	NM_000059.3	NP_000050.2:p.(Asp1709Gly)	NC_000013.10:g.32913618A>G	(Likely) benign	1 lab	02102dfbce
7:42012040 GLI3 G>A	7	42012040	42012040	G	A	GLI3	c.1999C>T	NM_000168.6	NP_000159.3:p.(Arg667Ter)	NC_000007.13:g.42012040G>A	(Likely) pathogenic	1 lab	0214d3d862
8:10464604 RP1L1 T>C	8	10464604	10464604	T	C	RP1L1	c.7004A>G	NM_178857.5	NP_849188.4:p.(His2335Arg)	NC_000008.10:g.10464604T>C	(Likely) benign	1 lab	0215d7b708
17:29646045 NF1 T>A	17	29646045	29646045	T	A	NF1	c.4836-6793T>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29646045T>A	(Likely) benign	1 lab	0220388981
3:37089008 MLH1 A>G	3	37089008	37089008	A	G	MLH1	c.1732-2A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37089008A>G	(Likely) pathogenic	1 lab	0220fafeca
19:39055667 RYR1 G>T	19	39055667	39055667	G	T	RYR1	c.12693G>T	NM_000540.2	NP_000531.2:p.(Glu4231Asp)	NC_000019.9:g.39055667G>T	VUS	1 lab	02259f6419
3:151162758 IGSF10 C>T	3	151162758	151162758	C	T	IGSF10	c.5011G>A	NM_178822.4	NP_849144.2:p.(Glu1671Lys)	NC_000003.11:g.151162758C>T	VUS	1 lab	0225e703b0
17:72588612 CD300LD-AS1 G>T	17	72588612	72588612	G	T	CD300LD-AS1	c.427G>T	NM_001302809.1	NP_001289738.1:p.(Val143Phe)	NC_000017.10:g.72588612G>T	VUS	1 lab	2bef42ed84
11:66475139 SPTBN2 G>A	11	66475139	66475139	G	A	SPTBN2	c.1501C>T	NM_006946.4	NP_008877.2:p.(Arg501Cys)	NC_000011.9:g.66475139G>A	VUS	1 lab	022db13202
14:51094940 ATL1 T>C	14	51094940	51094940	T	C	ATL1	c.1311T>C	NM_015915.4	NP_056999.2:p.(Asp437=)	NC_000014.8:g.51094940T>C	(Likely) benign	1 lab	022e9fab94
2:228118327 COL4A3 G>A	2	228118327	228118327	G	A	COL4A3	c.738G>A	NM_000091.4	NP_000082.2:p.(Val246=)	NC_000002.11:g.228118327G>A	(Likely) benign	1 lab	02300d6708
3:46009439 FYCO1 C>A	3	46009439	46009439	C	A	FYCO1	c.1387G>T	NM_024513.3	NP_078789.2:p.(Gly463Ter)	NC_000003.11:g.46009439C>A	(Likely) pathogenic	1 lab	023020d637
1:216498700 USH2A G>A	1	216498700	216498700	G	A	USH2A	c.1090C>T	NM_206933.2	NP_996816.2:p.(Gln364Ter)	NC_000001.10:g.216498700G>A	(Likely) pathogenic	1 lab	0231f8cd13
7:128494861 FLNC G>A	7	128494861	128494861	G	A	FLNC	c.7030G>A	NM_001458.4	NP_001449.3:p.(Ala2344Thr)	NC_000007.13:g.128494861G>A	VUS	1 lab	023255ef24
11:108224631 ATM G>C	11	108224631	108224631	G	C	ATM	c.8786+24G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108224631G>C	(Likely) benign	1 lab	0235c657fe
4:123848876 SPATA5 G>A	4	123848876	123848876	G	A	SPATA5				NC_000004.11:g.123848876G>A	(Likely) pathogenic	1 lab	02386cf138
12:103249093 PAH C>G	12	103249093	103249093	C	G	PAH	c.527G>C	NM_000277.3	NP_000268.1:p.(Arg176Pro)	NC_000012.11:g.103249093C>G	(Likely) pathogenic	1 lab	023a34ffdf
8:145017940 PLEC G>A	8	145017940	145017940	G	A	PLEC	c.194-5080C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145017940G>A	(Likely) benign	1 lab	2c7fbfa108
9:125152480 PTGS1 G>A	9	125152480	125152480	G	A	PTGS1	c.1300G>A	NM_000962.3	NP_000953.2:p.(Gly434Ser)	NC_000009.11:g.125152480G>A	VUS	1 lab	023c2c2e38
1:220752826 MARK1 G>A	1	220752826	220752826	G	A	MARK1	c.182G>A	NM_001286124.1	NP_001273053.1:p.(Arg61His)	NC_000001.10:g.220752826G>A	VUS	1 lab	023d2bcaea
20:62324601 RTEL1 G>A	20	62324601	62324601	G	A	RTEL1	c.3029G>A	NM_032957.4	NP_116575.3:p.(Arg1010Gln)	NC_000020.10:g.62324601G>A	VUS	1 lab	023f7ae970
14:23898543 MYH7 A>G	14	23898543	23898543	A	G	MYH7	c.1152T>C	NM_000257.3	NP_000248.2:p.(Ser384=)	NC_000014.8:g.23898543A>G	(Likely) benign	1 lab	02405cfa87
12:88465553 CEP290 C>T	12	88465553	88465553	C	T	CEP290	c.5855+5G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88465553C>T	(Likely) pathogenic	1 lab	024515006e
20:44180256 WFDC8 CA>C	20	44180256	44180271	CA	C	WFDC8	c.*4-6del	NM_181510.2	NP_852611.2:p.?	NC_000020.10:g.44180271del	(Likely) benign	1 lab	2d999b195c
19:49671771 TRPM4 C>T	19	49671771	49671771	C	T	TRPM4	c.613-39C>T	NM_017636.3	NP_060106.2:p.?	NC_000019.9:g.49671771C>T	(Likely) benign	1 lab	02493551ec
14:69006883 RAD51B CT>C	14	69006883	69006908	CT	C	RAD51B	c.1037-62472del	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69006908del	(Likely) benign	1 lab	2dc5a083c7
16:21994411 UQCRC2 G>A	16	21994411	21994411	G	A	UQCRC2	c.1281G>A	NM_003366.2	NP_003357.2:p.(Ala427=)	NC_000016.9:g.21994411G>A	(Likely) benign	1 lab	024a6e80f1
X:140335841 SPANXC G>A	X	140335841	140335841	G	A	SPANXC	c.103C>T	NM_022661.2	NP_073152.1:p.(Pro35Ser)	NC_000023.10:g.140335841G>A	VUS	1 lab	2dcff7a5b3
2:191841638 STAT1 GATTCTCAGGAAT>G	2	191841638	191841658	GATTCTCAGGAAT	G	STAT1				NC_000002.11:g.191841647_191841658del	VUS	1 lab	025306293d
1:152280471 FLG C>G	1	152280471	152280471	C	G	FLG	c.6891G>C	NM_002016.1	NP_002007.1:p.(Glu2297Asp)	NC_000001.10:g.152280471C>G	(Likely) benign	1 lab	025328ddb3
7:107330591 SLC26A4 G>A	7	107330591	107330591	G	A	SLC26A4	c.1172G>A	NM_000441.2	NP_000432.1:p.(Ser391Asn)	NC_000007.13:g.107330591G>A	(Likely) pathogenic	1 lab	0253729fac
12:103246681 PAH G>A	12	103246681	103246681	G	A	PAH	c.754C>T	NM_000277.3	NP_000268.1:p.(Arg252Trp)	NC_000012.11:g.103246681G>A	(Likely) pathogenic	1 lab	0255ce401c
17:18047111 MYO15A G>A	17	18047111	18047111	G	A	MYO15A				NC_000017.10:g.18047111G>A	(Likely) pathogenic	1 lab	025b7438fe
1:156054124 LMNA GGT>G	1	156054124	156054127	GGT	G	LMNA	c.-319+1151_-319+1152del	NM_001282625.1	NP_001269554.1:p.?	NC_000001.10:g.156054126_156054127del	(Likely) benign	1 lab	2ea18083e9
11:118971085 DPAGT1 G>A	11	118971085	118971085	G	A	DPAGT1	c.530C>T	NM_001382.3	NP_001373.2:p.(Ala177Val)	NC_000011.9:g.118971085G>A	VUS	1 lab	025c923173
8:143996601 CYP11B2 C>G	8	143996601	143996601	C	G	CYP11B2	c.456G>C	NM_000498.3	NP_000489.3:p.(Lys152Asn)	NC_000008.10:g.143996601C>G	(Likely) benign	1 lab	025d1a6519
X:107840692 COL4A5 G>A	X	107840692	107840692	G	A	COL4A5	c.1673G>A	NM_033380.2	NP_203699.1:p.(Gly558Asp)	NC_000023.10:g.107840692G>A	(Likely) pathogenic	1 lab	025e4b4fdb
1:94508433 ABCA4 G>A	1	94508433	94508433	G	A	ABCA4	c.3212C>T	NM_000350.2	NP_000341.2:p.(Ser1071Leu)	NC_000001.10:g.94508433G>A	(Likely) pathogenic	1 lab	0262ea865b
18:77748580 TXNL4A ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG>A	18	77748580	77748636	ACGCCGTGCGTGCTGACGGCATGCGCGCGCGCTAG	A	TXNL4A	c.-60-10913_-60-10880del	NM_001305563.1	NP_001292492.1:p.?	NC_000018.9:g.77748603_77748636del	(Likely) pathogenic	1 lab	2ebc8c7e1c
14:31642809 MISSING A>C	14	31642809	31642809	A	C	MISSING				NC_000014.8:g.31642809A>C	VUS	1 lab	0263b96ae8
17:7788343 CHD3 CCCGCCGCCG>C	17	7788343	7788366	CCCGCCGCCG	C	CHD3	c.234_242del	NM_001005271.2	NP_001005271.2:p.(Pro80_Pro82del)	NC_000017.10:g.7788358_7788366del	(Likely) benign	1 lab	2efa4d2ee3
2:167304145 SCN7A T>C	2	167304145	167304145	T	C	SCN7A	c.1364A>G	NM_002976.4	NP_002967.2:p.(Asp455Gly)	NC_000002.11:g.167304145T>C	VUS	1 lab	0265547a12
13:32914312 BRCA2 G>C	13	32914312	32914312	G	C	BRCA2	c.5820G>C	NM_000059.3	NP_000050.2:p.(Glu1940Asp)	NC_000013.10:g.32914312G>C	(Likely) benign	1 lab	026b1106a8
1:228492995 OBSCN A>G	1	228492995	228492995	A	G	OBSCN	c.14438A>G	NM_001271223.2	NP_001258152.2:p.(Glu4813Gly)	NC_000001.10:g.228492995A>G	(Likely) benign	1 lab	026cec3780
8:61654218 CHD7 A>C	8	61654218	61654218	A	C	CHD7	c.227A>C	NM_017780.4	NP_060250.2:p.(Glu76Ala)	NC_000008.10:g.61654218A>C	(Likely) benign	1 lab	026d790fc8
9:136319600 ADAMTS13 G>A	9	136319600	136319600	G	A	ADAMTS13	c.3108G>A	NM_139027.6	NP_620596.2:p.(Ser1036=)	NC_000009.11:g.136319600G>A	(Likely) benign	1 lab	02728492e6
16:21422364 NPIPB3 G>A	16	21422364	21422364	G	A	NPIPB3	c.436C>T	NM_130464.2	NP_569731.2:p.(Arg146Trp)	NC_000016.9:g.21422364G>A	(Likely) benign	1 lab	2f1b42ba7f
7:117254708 CFTR A>G	7	117254708	117254708	A	G	CFTR	c.3409A>G	NM_000492.4	NP_000483.3:p.(Met1137Val)	NC_000007.13:g.117254708A>G	VUS	1 lab	027915d9ad
1:209974625 IRF6 C>T	1	209974625	209974625	C	T	IRF6	c.134G>A	NM_006147.4	NP_006138.1:p.(Arg45Gln)	NC_000001.10:g.209974625C>T	(Likely) pathogenic	1 lab	0282c31f89
16:23625404 PALB2 T>G	16	23625404	23625404	T	G	PALB2	c.3122A>C	NM_024675.3	NP_078951.2:p.(Lys1041Thr)	NC_000016.9:g.23625404T>G	(Likely) benign	1 lab	02835a3c70
13:32936716 BRCA2 A>G	13	32936716	32936716	A	G	BRCA2	c.7862A>G	NM_000059.3	NP_000050.2:p.(Tyr2621Cys)	NC_000013.10:g.32936716A>G	VUS	1 lab	028671cba7
5:112155042 APC G>T	5	112155042	112155042	G	T	APC	c.1312+1G>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155042G>T	(Likely) pathogenic	1 lab	028a2d9137
X:54473775 FGD1 G>C	X	54473775	54473775	G	C	FGD1	c.2549C>G	NM_004463.3	NP_004454.2:p.(Pro850Arg)	NC_000023.10:g.54473775G>C	VUS	1 lab	028a64af9a
16:23652749 PALB2 C>T	16	23652749	23652749	C	T	PALB2				NC_000016.9:g.23652749C>T	(Likely) benign	1 lab	028f29c712
X:140335705 SPANXC A>T	X	140335705	140335705	A	T	SPANXC	c.239T>A	NM_022661.2	NP_073152.1:p.(Leu80His)	NC_000023.10:g.140335705A>T	VUS	1 lab	2f69e960ed
2:167085348 SCN9A G>A	2	167085348	167085348	G	A	SCN9A	c.4059C>T	NM_001365536.1	NP_001352465.1:p.(Thr1353=)	NC_000002.11:g.167085348G>A	(Likely) benign	1 lab	0290c4a2f6
2:159533270 PKP4 A>G	2	159533270	159533270	A	G	PKP4	c.3147A>G	NM_003628.4	NP_003619.2:p.(Ser1049=)	NC_000002.11:g.159533270A>G	(Likely) benign	1 lab	0297e99fd8
12:80936051 MISSING C>A	12	80936051	80936051	C	A	MISSING				NC_000012.11:g.80936051C>A	(Likely) pathogenic	1 lab	02990371ba
14:105415160 AHNAK2 C>G	14	105415160	105415160	C	G	AHNAK2	c.6628G>C	NM_138420.4	NP_612429.2:p.(Val2210Leu)	NC_000014.8:g.105415160C>G	(Likely) benign	1 lab	029d90d067
11:2591883 KCNQ1 G>T	11	2591883	2591883	G	T	KCNQ1	c.503G>T	NM_000218.3	NP_000209.2:p.(Gly168Val)	NC_000011.9:g.2591883G>T	(Likely) pathogenic	1 lab	029f1158f9
6:84836111 CEP162 G>A	6	84836111	84836111	G	A	CEP162	c.3991C>T	NM_014895.4	NP_055710.2:p.(Gln1331Ter)	NC_000006.11:g.84836111G>A	VUS	1 lab	02a547dc2c
14:102461131 DYNC1H1 T>C	14	102461131	102461131	T	C	DYNC1H1	c.3278T>C	NM_001376.5	NP_001367.2:p.(Phe1093Ser)	NC_000014.8:g.102461131T>C	(Likely) pathogenic	1 lab	02a8c55c9e
1:196646745 CFH A>G	1	196646745	196646745	A	G	CFH	c.567A>G	NM_000186.4	NP_000177.2:p.(Glu189=)	NC_000001.10:g.196646745A>G	VUS	1 lab	02a946c0f3
12:6204615 VWF T>G	12	6204615	6204615	T	G	VWF	c.657+11A>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6204615T>G	(Likely) benign	1 lab	083f1e09de
4:111553640 PITX2 G>A	4	111553640	111553640	G	A	PITX2	c.47-4C>T	NM_001204397.1	NP_001191326.1:p.?	NC_000004.11:g.111553640G>A	(Likely) benign	1 lab	2f90348287
18:44146406 LOXHD1 G>A	18	44146406	44146406	G	A	LOXHD1	c.2251C>T	NM_144612.6	NP_653213.6:p.(Arg751Trp)	NC_000018.9:g.44146406G>A	VUS	1 lab	02af3988de
6:129813132 LAMA2 T>C	6	129813132	129813132	T	C	LAMA2	c.7985T>C	NM_000426.3	NP_000417.2:p.(Val2662Ala)	NC_000006.11:g.129813132T>C	VUS	1 lab	02b5bd6338
16:89352472 ANKRD11 G>C	16	89352472	89352472	G	C	ANKRD11	c.867C>G	NM_001256183.1	NP_001243112.1:p.(Tyr289Ter)	NC_000016.9:g.89352472G>C	(Likely) pathogenic	1 lab	02bcfebc27
X:49071546 CACNA1F C>T	X	49071546	49071546	C	T	CACNA1F	c.3630G>A	NM_005183.3	NP_005174.2:p.(Gln1210=)	NC_000023.10:g.49071546C>T	VUS	1 lab	02bfb18f9f
11:2170478 IGF2 A>G	11	2170478	2170478	A	G	IGF2	c.-371T>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170478A>G	(Likely) benign	1 lab	2fd6e4df7d
16:68842678 CDH1 T>C	16	68842678	68842678	T	C	CDH1	c.614T>C	NM_004360.3	NP_004351.1:p.(Phe205Ser)	NC_000016.9:g.68842678T>C	VUS	1 lab	02c06d5349
16:15068803 PDXDC1 C>G	16	15068803	15068803	C	G	PDXDC1	c.-25+142C>G	NM_001285447.1	NP_001272376.1:p.?	NC_000016.9:g.15068803C>G	(Likely) benign	1 lab	3000002cac
11:76890956 MYO7A G>A	11	76890956	76890956	G	A	MYO7A	c.2543G>A	NM_000260.3	NP_000251.3:p.(Arg848Gln)	NC_000011.9:g.76890956G>A	VUS	1 lab	02c26a4265
4:84206034 COQ2 C>G	4	84206034	84206034	C	G	COQ2	c.34G>C	NM_015697.7	NP_056512.5:p.(Gly12Arg)	NC_000004.11:g.84206034C>G	VUS	1 lab	300c3a72f9
7:154561191 MISSING C>T	7	154561191	154561191	C	T	MISSING				NC_000007.13:g.154561191C>T	(Likely) benign	1 lab	9ac1d6f1fc
14:76438066 TGFB3 G>A	14	76438066	76438066	G	A	TGFB3	c.353-5C>T	NM_003239.4	NP_003230.1:p.?	NC_000014.8:g.76438066G>A	(Likely) benign	1 lab	02c5ffc01d
22:36702030 MYH9 C>T	22	36702030	36702030	C	T	MYH9	c.2105G>A	NM_002473.6	NP_002464.1:p.(Arg702His)	NC_000022.10:g.36702030C>T	(Likely) pathogenic	1 lab	02c6d64e30
6:30888131 VARS2 C>T	6	30888131	30888131	C	T	VARS2	c.1405C>T	NM_001167734.1	NP_001161206.1:p.(Arg469Trp)	NC_000006.11:g.30888131C>T	VUS	1 lab	02c7b74ae2
3:101384445 ZBTB11 G>C	3	101384445	101384445	G	C	ZBTB11	c.986C>G	NM_014415.3	NP_055230.2:p.(Ser329Cys)	NC_000003.11:g.101384445G>C	VUS	1 lab	02c7d22590
X:107844666 COL4A5 G>T	X	107844666	107844666	G	T	COL4A5	c.1992G>T	NM_033380.2	NP_203699.1:p.(Lys664Asn)	NC_000023.10:g.107844666G>T	(Likely) benign	1 lab	02d0487530
6:7583718 DSP C>T	6	7583718	7583718	C	T	DSP	c.6223C>T	NM_004415.2	NP_004406.2:p.(Arg2075Trp)	NC_000006.11:g.7583718C>T	VUS	1 lab	02d24fe811
19:19304811 RFXANK C>G	19	19304811	19304811	C	G	RFXANK	c.56C>G	NM_003721.3	NP_003712.1:p.(Ser19Ter)	NC_000019.9:g.19304811C>G	(Likely) pathogenic	1 lab	02d29b2796
7:92122437 PEX1 G>A	7	92122437	92122437	G	A	PEX1	c.3037C>T	NM_000466.2	NP_000457.1:p.(Arg1013Cys)	NC_000007.13:g.92122437G>A	(Likely) pathogenic	1 lab	02d2a38d24
6:157528197 ARID1B C>T	6	157528197	157528197	C	T	ARID1B	c.5922C>T	NM_020732.3	NP_065783.3:p.(Ile1974=)	NC_000006.11:g.157528197C>T	(Likely) benign	1 lab	02d3328a43
20:31022277 ASXL1 C>T	20	31022277	31022277	C	T	ASXL1	c.1762C>T	NM_015338.5	NP_056153.2:p.(Gln588Ter)	NC_000020.10:g.31022277C>T	(Likely) pathogenic	1 lab	02d554b933
8:72128968 EYA1 C>T	8	72128968	72128968	C	T	EYA1	c.1319G>A	NM_000503.4	NP_000494.2:p.(Arg440Gln)	NC_000008.10:g.72128968C>T	(Likely) pathogenic	1 lab	02d6d6bc88
8:86389403 CA2 T>C	8	86389403	86389403	T	C	CA2	c.562T>C	NM_000067.2	NP_000058.1:p.(Leu188=)	NC_000008.10:g.86389403T>C	(Likely) benign	1 lab	02db0990ae
9:108366500 FKTN G>T	9	108366500	108366500	G	T	FKTN	c.374G>T	NM_001079802.1	NP_001073270.1:p.(Gly125Val)	NC_000009.11:g.108366500G>T	(Likely) benign	1 lab	02dca3f832
15:48782110 FBN1 A>C	15	48782110	48782110	A	C	FBN1	c.3020T>G	NM_000138.4	NP_000129.3:p.(Leu1007Arg)	NC_000015.9:g.48782110A>C	VUS	1 lab	02dd3ae5cb
10:43610053 RET A>G	10	43610053	43610053	A	G	RET	c.2005A>G	NM_020975.5	NP_066124.1:p.(Ile669Val)	NC_000010.10:g.43610053A>G	VUS	1 lab	02de1316e1
3:123167081 ADCY5 C>T	3	123167081	123167081	C	T	ADCY5	c.312G>A	NM_183357.2	NP_899200.1:p.(Gln104=)	NC_000003.11:g.123167081C>T	(Likely) benign	1 lab	02df04d806
3:47041711 NBEAL2 C>T	3	47041711	47041711	C	T	NBEAL2	c.4122C>T	NM_015175.2	NP_055990.1:p.(Gly1374=)	NC_000003.11:g.47041711C>T	(Likely) benign	1 lab	02e14ccf3b
17:79478586 ACTG1 C>G	17	79478586	79478586	C	G	ACTG1	c.430G>C	NM_001614.3	NP_001605.1:p.(Ala144Pro)	NC_000017.10:g.79478586C>G	(Likely) pathogenic	1 lab	02e1e095c7
16:67469719 HSD11B2 A>C	16	67469719	67469719	A	C	HSD11B2	c.454A>C	NM_000196.4	NP_000187.3:p.(Thr152Pro)	NC_000016.9:g.67469719A>C	VUS	1 lab	02e2f50c7c
13:32890702 BRCA2 G>A	13	32890702	32890702	G	A	BRCA2	c.67+38G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890702G>A	(Likely) benign	1 lab	02e5445b32
11:45971009 PHF21A G>A	11	45971009	45971009	G	A	PHF21A	c.1171C>T	NM_001352027.3	NP_001338956.1:p.(Arg391Ter)	NC_000011.9:g.45971009G>A	(Likely) pathogenic	1 lab	02e7e2f7c8
4:114275601 ANK2 G>A	4	114275601	114275601	G	A	ANK2	c.5827G>A	NM_001148.5	NP_001139.3:p.(Gly1943Arg)	NC_000004.11:g.114275601G>A	(Likely) benign	1 lab	02ea978117
7:101923356 CUX1 C>T	7	101923356	101923356	C	T	CUX1	c.1660C>T	NM_001202544.1	NP_001189473.1:p.(Arg554Trp)	NC_000007.13:g.101923356C>T	VUS	1 lab	314f06f43c
5:112162800 APC A>G	5	112162800	112162800	A	G	APC	c.1409-5A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112162800A>G	(Likely) pathogenic	1 lab	02ebc62ba0
2:179644020 TTN T>A	2	179644020	179644020	T	A	TTN	c.3899A>T	NM_001267550.2	NP_001254479.2:p.(Tyr1300Phe)	NC_000002.11:g.179644020T>A	VUS	1 lab	02ecb95c1b
5:14387635 TRIO G>A	5	14387635	14387635	G	A	TRIO	c.3659G>A	NM_007118.2	NP_009049.2:p.(Cys1220Tyr)	NC_000005.9:g.14387635G>A	(Likely) benign	1 lab	02ee1b7829
10:81056304 ZMIZ1 C>T	10	81056304	81056304	C	T	ZMIZ1	c.1307C>T	NM_020338.4	NP_065071.1:p.(Pro436Leu)	NC_000010.10:g.81056304C>T	VUS	1 lab	02ef7490de
5:112174058 APC A>T	5	112174058	112174058	A	T	APC	c.2767A>T	NM_000038.5	NP_000029.2:p.(Arg923Ter)	NC_000005.9:g.112174058A>T	(Likely) pathogenic	1 lab	02f5167ec1
3:100962591 IMPG2 C>A	3	100962591	100962591	C	A	IMPG2	c.2584G>T	NM_016247.4	NP_057331.2:p.(Val862Phe)	NC_000003.11:g.100962591C>A	VUS	1 lab	02f5a3dd97
5:138860438 STING1 A>T	5	138860438	138860438	A	T	STING1	c.457T>A	NM_198282.4	NP_938023.1:p.(Phe153Ile)	NC_000005.9:g.138860438A>T	(Likely) pathogenic	1 lab	02f8da7f63
6:29591083 GABBR1 G>A	6	29591083	29591083	G	A	GABBR1	c.962C>T	NM_001470.4	NP_001461.1:p.(Ser321Leu)	NC_000006.11:g.29591083G>A	VUS	1 lab	0300298333
X:103045479 PLP1 T>C	X	103045479	103045479	T	C	PLP1	c.787T>C	NM_001128834.1	NP_001122306.1:p.(Tyr263His)	NC_000023.10:g.103045479T>C	VUS	1 lab	03014a3d80
X:49834632 CLCN5 A>C	X	49834632	49834632	A	C	CLCN5	c.52A>C	NM_000084.5	NP_000075.1:p.(Asn18His)	NC_000023.10:g.49834632A>C	VUS	1 lab	03031e0dcb
10:112540666 RBM20 T>G	10	112540666	112540666	T	G	RBM20	c.299T>G	NM_001134363.2	NP_001127835.2:p.(Leu100Arg)	NC_000010.10:g.112540666T>G	VUS	1 lab	03058aaefa
16:67650720 CTCF G>A	16	67650720	67650720	G	A	CTCF	c.1025G>A	NM_006565.4	NP_006556.1:p.(Arg342His)	NC_000016.9:g.67650720G>A	(Likely) pathogenic	1 lab	0308b80510
3:121712212 ILDR1 G>A	3	121712212	121712212	G	A	ILDR1	c.1384C>T	NM_001199799.1	NP_001186728.1:p.(Arg462Ter)	NC_000003.11:g.121712212G>A	(Likely) pathogenic	1 lab	030b8573ad
19:6710782 C3 G>T	19	6710782	6710782	G	T	C3	c.1554C>A	NM_000064.3	NP_000055.2:p.(Pro518=)	NC_000019.9:g.6710782G>T	(Likely) benign	1 lab	030e4a3e32
5:112175754 APC TA>T	5	112175754	112175755	TA	T	APC	c.4464del	NM_000038.6	NP_000029.2:p.(Leu1488PhefsTer19)	NC_000005.9:g.112175755del	(Likely) pathogenic	1 lab	030f7ebe91
13:32936722 BRCA2 A>C	13	32936722	32936722	A	C	BRCA2	c.7868A>C	NM_000059.3	NP_000050.2:p.(His2623Pro)	NC_000013.10:g.32936722A>C	VUS	1 lab	0310f9212c
14:102461042 DYNC1H1 G>A	14	102461042	102461042	G	A	DYNC1H1	c.3189G>A	NM_001376.4	NP_001367.2:p.(Met1063Ile)	NC_000014.8:g.102461042G>A	VUS	1 lab	0310ffb889
16:50746164 NOD2 C>T	16	50746164	50746164	C	T	NOD2				NC_000016.9:g.50746164C>T	VUS	1 lab	0317a11f5d
1:179533850 NPHS2 G>A	1	179533850	179533850	G	A	NPHS2	c.353C>T	NM_014625.4	NP_055440.1:p.(Pro118Leu)	NC_000001.10:g.179533850G>A	(Likely) pathogenic	1 lab	0317dcd9be
X:153418524 OPN1LW C>T	X	153418524	153418524	C	T	OPN1LW	c.521C>T	NM_020061.4	NP_064445.1:p.(Ala174Val)	NC_000023.10:g.153418524C>T	(Likely) pathogenic	1 lab	031a1f90ef
17:1630615 WDR81 C>T	17	1630615	1630615	C	T	WDR81	c.2362C>T	NM_001163809.1	NP_001157281.1:p.(Arg788Trp)	NC_000017.10:g.1630615C>T	VUS	1 lab	031aa43504
22:37628869 RAC2 C>T	22	37628869	37628869	C	T	RAC2	c.197G>A	NM_002872.5	NP_002863.1:p.(Arg66His)	NC_000022.10:g.37628869C>T	VUS	1 lab	03545b53bc
8:41906495 KAT6A T>C	8	41906495	41906495	T	C	KAT6A	c.1A>G	NM_006766.5	NP_006757.2:p.(Met1?)	NC_000008.10:g.41906495T>C	(Likely) pathogenic	1 lab	031cc60332
7:151511482 PRKAG2 G>T	7	151511482	151511482	G	T	PRKAG2	c.-19+20C>A	NM_001040633.1	NP_001035723.1:p.?	NC_000007.13:g.151511482G>T	VUS	1 lab	031cfb1c71
15:72104149 NR2E3 C>T	15	72104149	72104149	C	T	NR2E3	c.289C>T	NM_014249.2	NP_055064.1:p.(Arg97Cys)	NC_000015.9:g.72104149C>T	VUS	1 lab	031d287c77
3:37092176 MLH1 C>T	3	37092176	37092176	C	T	MLH1	c.*32C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37092176C>T	(Likely) benign	1 lab	031e59b6d0
11:108236775 ATM A>C	11	108236775	108236775	A	C	ATM	c.*540A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108236775A>C	(Likely) benign	1 lab	031f37f6c1
1:228461715 OBSCN C>T	1	228461715	228461715	C	T	OBSCN	c.6507C>T	NM_001271223.2	NP_001258152.2:p.(Gly2169=)	NC_000001.10:g.228461715C>T	(Likely) benign	1 lab	032085b7cb
8:61765676 CHD7 T>G	8	61765676	61765676	T	G	CHD7				NC_000008.10:g.61765676T>G	(Likely) benign	1 lab	032187d769
16:89348553 ANKRD11 CTG>C	16	89348553	89348558	CTG	C	ANKRD11	c.4395_4396del	NM_013275.6	NP_037407.4:p.(His1465GlnfsTer88)	NC_000016.9:g.89348557_89348558del	(Likely) pathogenic	1 lab	0323e7d4a8
15:54838931 UNC13C C>T	15	54838931	54838931	C	T	UNC13C	c.5708C>T	NM_001080534.1	NP_001074003.1:p.(Ser1903Leu)	NC_000015.9:g.54838931C>T	VUS	1 lab	032489759c
7:158529889 ESYT2 T>G	7	158529889	158529889	T	G	ESYT2	c.2349-19A>C	NM_020728.2	NP_065779.1:p.?	NC_000007.13:g.158529889T>G	(Likely) benign	1 lab	0324b3e633
12:125284764 SCARB1 G>A	12	125284764	125284764	G	A	SCARB1				NC_000012.11:g.125284764G>A	VUS	1 lab	03275fbe85
2:219922329 IHH C>A	2	219922329	219922329	C	A	IHH	c.403G>T	NM_002181.4	NP_002172.2:p.(Glu135Ter)	NC_000002.11:g.219922329C>A	VUS	1 lab	0328b3b8c1
2:179579182 TTN C>A	2	179579182	179579182	C	A	TTN	c.26319G>T	NM_001267550.2	NP_001254479.2:p.(Lys8773Asn)	NC_000002.11:g.179579182C>A	VUS	1 lab	0328d8fa93
2:242619732 MISSING G>A	2	242619732	242619732	G	A	MISSING				NC_000002.11:g.242619732G>A	VUS	1 lab	032ebff8a6
3:9851718 TTLL3 C>G	3	9851718	9851718	C	G	TTLL3	c.28C>G	NM_001025930.3	NP_001021100.3:p.(Leu10Val)	NC_000003.11:g.9851718C>G	VUS	1 lab	31ea54b15f
2:131356832 CFC1 C>G	2	131356832	131356832	C	G	CFC1	c.23+6G>C	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131356832C>G	VUS	1 lab	033740792c
20:5948123 MCM8 G>A	20	5948123	5948123	G	A	MCM8	c.917G>A	NM_032485.6	NP_115874.3:p.(Arg306Gln)	NC_000020.10:g.5948123G>A	VUS	1 lab	0337fce901
11:47365100 MYBPC3 T>G	11	47365100	47365100	T	G	MYBPC3	c.1166A>C	NM_000256.3	NP_000247.2:p.(Asp389Ala)	NC_000011.9:g.47365100T>G	VUS	1 lab	033937729b
11:121031119 TECTA C>T	11	121031119	121031119	C	T	TECTA				NC_000011.9:g.121031119C>T	VUS	1 lab	033d05cc6e
1:114483951 HIPK1 C>T	1	114483951	114483951	C	T	HIPK1	c.946C>T	NM_198268.2	NP_938009.1:p.(Leu316Phe)	NC_000001.10:g.114483951C>T	VUS	1 lab	0349d327b7
6:129465045 LAMA2 G>T	6	129465045	129465045	G	T	LAMA2	c.640-1G>T	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129465045G>T	(Likely) pathogenic	1 lab	034cd2a43a
17:29663624 NF1 T>A	17	29663624	29663624	T	A	NF1	c.6148-29T>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29663624T>A	(Likely) benign	1 lab	034e15c52f
2:135893426 RAB3GAP1 C>T	2	135893426	135893426	C	T	RAB3GAP1				NC_000002.11:g.135893426C>T	VUS	1 lab	694aec8dc9
2:179590744 TTN T>C	2	179590744	179590744	T	C	TTN	c.20305A>G	NM_001267550.2	NP_001254479.2:p.(Ile6769Val)	NC_000002.11:g.179590744T>C	(Likely) benign	1 lab	034e5e94d4
X:67417027 OPHN1 C>G	X	67417027	67417027	C	G	OPHN1	c.1104+1G>C	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67417027C>G	(Likely) pathogenic	1 lab	03507d91c5
5:147478883 SPINK5 G>A	5	147478883	147478883	G	A	SPINK5	c.1092+5G>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147478883G>A	VUS	1 lab	03535cb40e
2:47635695 MSH2 G>A	2	47635695	47635695	G	A	MSH2	c.366+1G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635695G>A	(Likely) pathogenic	1 lab	03574d02fc
4:149356300 NR3C2 A>G	4	149356300	149356300	A	G	NR3C2	c.1713T>C	NM_000901.5	NP_000892.2:p.(Ser571=)	NC_000004.11:g.149356300A>G	(Likely) benign	1 lab	0357e0f4ff
1:8421537 RERE G>T	1	8421537	8421537	G	T	RERE	c.2030C>A	NM_012102.3	NP_036234.3:p.(Pro677His)	NC_000001.10:g.8421537G>T	VUS	1 lab	035c3a2867
3:101371467 ZBTB11 C>A	3	101371467	101371467	C	A	ZBTB11	c.2517G>T	NM_014415.3	NP_055230.2:p.(Arg839Ser)	NC_000003.11:g.101371467C>A	(Likely) pathogenic	1 lab	035c60b3b1
2:99013128 CNGA3 C>T	2	99013128	99013128	C	T	CNGA3	c.1495C>T	NM_001298.2	NP_001289.1:p.(Arg499Ter)	NC_000002.11:g.99013128C>T	(Likely) pathogenic	1 lab	0365a22878
7:24745803 GSDME C>T	7	24745803	24745803	C	T	GSDME	c.1183G>A	NM_004403.3	NP_004394.1:p.(Glu395Lys)	NC_000007.13:g.24745803C>T	(Likely) pathogenic	1 lab	03673d6bad
9:131388805 SPTAN1 G>A	9	131388805	131388805	G	A	SPTAN1				NC_000009.11:g.131388805G>A	VUS	1 lab	0a48902a55
11:120980056 TECTA A>G	11	120980056	120980056	A	G	TECTA				NC_000011.9:g.120980056A>G	VUS	1 lab	036aac6031
X:41201848 DDX3X G>GA	X	41201848	41201849	G	GA	DDX3X	c.386dup	NM_001356.5	NP_001347.3:p.(Asp129GlufsTer5)	NC_000023.10:g.41201849dup	(Likely) pathogenic	1 lab	03700c9c62
1:207959665 CD46 A>G	1	207959665	207959665	A	G	CD46	c.1127+638A>G	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207959665A>G	(Likely) pathogenic	1 lab	037162899e
19:49468597 FTL G>T	19	49468597	49468597	G	T	FTL	c.-168G>T	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468597G>T	(Likely) pathogenic	1 lab	0377ceb927
17:41243680 BRCA1 T>C	17	41243680	41243680	T	C	BRCA1	c.3868A>G	NM_007294.4	NP_009225.1:p.(Lys1290Glu)	NC_000017.10:g.41243680T>C	(Likely) benign	1 lab	037a96a928
19:13409931 CACNA1A C>CGCCG	19	13409931	13409933	C	CGCCG	CACNA1A				NC_000019.9:g.13409932_13409933insCCGG	(Likely) pathogenic	1 lab	03801a0998
2:179569239 TTN A>G	2	179569239	179569239	A	G	TTN	c.29960T>C	NM_001267550.2	NP_001254479.2:p.(Ile9987Thr)	NC_000002.11:g.179569239A>G	VUS	1 lab	03809bc39c
2:179458332 TTN A>G	2	179458332	179458332	A	G	TTN	c.58695T>C	NM_001267550.2	NP_001254479.2:p.(Pro19565=)	NC_000002.11:g.179458332A>G	(Likely) benign	1 lab	0381776ae7
11:117209268 CEP164 C>T	11	117209268	117209268	C	T	CEP164	c.-21-14C>T	NM_014956.4	NP_055771.4:p.?	NC_000011.9:g.117209268C>T	(Likely) benign	1 lab	03848f99bf
17:29703438 NF1 C>G	17	29703438	29703438	C	G	NF1	c.*2265C>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29703438C>G	(Likely) benign	1 lab	0384f41c43
2:179395587 TTN C>T	2	179395587	179395587	C	T	TTN	c.105755G>A	NM_001267550.2	NP_001254479.2:p.(Arg35252Gln)	NC_000002.11:g.179395587C>T	(Likely) benign	1 lab	038606cfe6
6:149718772 TAB2 C>T	6	149718772	149718772	C	T	TAB2	c.1636C>T	NM_001292034.3	NP_001278963.1:p.(Arg546Ter)	NC_000006.11:g.149718772C>T	(Likely) pathogenic	1 lab	03865603be
19:18895074 COMP G>A	19	18895074	18895074	G	A	COMP	c.2014C>T	NM_000095.3	NP_000086.2:p.(Arg672Ter)	NC_000019.9:g.18895074G>A	VUS	1 lab	03867f0d82
19:5893192 NDUFA11 TAC>T	19	5893192	5893197	TAC	T	NDUFA11	c.421_422del	NM_001193375.1	NP_001180304.1:p.(Val141ThrfsTer286)	NC_000019.9:g.5893196_5893197del	VUS	1 lab	33731d31f8
15:48905225 FBN1 C>T	15	48905225	48905225	C	T	FBN1	c.229G>A	NM_000138.5	NP_000129.3:p.(Gly77Arg)	NC_000015.9:g.48905225C>T	VUS	1 lab	038b0b8466
17:29702046 NF1 A>T	17	29702046	29702046	A	T	NF1	c.*873A>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29702046A>T	(Likely) benign	1 lab	039009796e
X:49088374 CACNA1F G>A	X	49088374	49088374	G	A	CACNA1F	c.41C>T	NM_005183.3	NP_005174.2:p.(Pro14Leu)	NC_000023.10:g.49088374G>A	(Likely) benign	1 lab	0395f3ca0b
7:100246231 MISSING A>G	7	100246231	100246231	A	G	MISSING				NC_000007.13:g.100246231A>G	VUS	1 lab	0397b123f9
4:6303858 WFS1 T>C	4	6303858	6303858	T	C	WFS1	c.2336T>C	NM_006005.3	NP_005996.2:p.(Val779Ala)	NC_000004.11:g.6303858T>C	VUS	1 lab	0399bf428b
17:41215936 BRCA1 A>G	17	41215936	41215936	A	G	BRCA1	c.5107T>C	NM_007294.4	NP_009225.1:p.(Tyr1703His)	NC_000017.10:g.41215936A>G	(Likely) pathogenic	1 lab	039b49de3f
20:50701424 ZFP64 C>A	20	50701424	50701424	C	A	ZFP64	c.953G>T	NM_001319146.1	NP_001306075.1:p.(Ser318Ile)	NC_000020.10:g.50701424C>A	VUS	1 lab	33b95019fa
3:38924910 SCN11A G>A	3	38924910	38924910	G	A	SCN11A	c.3065-32C>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38924910G>A	(Likely) benign	1 lab	039ee46959
12:56629437 SLC39A5 GT>G	12	56629437	56629438	GT	G	SLC39A5	c.899del	NM_173596.2	NP_775867.2:p.(Val300GlyfsTer103)	NC_000012.11:g.56629438del	(Likely) pathogenic	1 lab	039f9de9a2
2:73800358 MISSING T>C	2	73800358	73800358	T	C	MISSING				NC_000002.11:g.73800358T>C	VUS	1 lab	965c875411
16:31012325 STX1B T>A	16	31012325	31012325	T	A	STX1B	c.206-2A>T	NM_052874.3	NP_443106.1:p.?	NC_000016.9:g.31012325T>A	(Likely) pathogenic	1 lab	03a1041536
11:108173677 ATM T>C	11	108173677	108173677	T	C	ATM	c.5417T>C	NM_000051.3	NP_000042.3:p.(Ile1806Thr)	NC_000011.9:g.108173677T>C	VUS	1 lab	03a207ecf6
20:3869790 PANK2 GCGC>G	20	3869790	3869797	GCGC	G	PANK2	c.-994_-992del	NM_001324191.1	NP_001311120.1:p.?	NC_000020.10:g.3869795_3869797del	VUS	1 lab	33d1d1e0d5
17:41234516 BRCA1 T>C	17	41234516	41234516	T	C	BRCA1	c.4262A>G	NM_007294.3	NP_009225.1:p.(His1421Arg)	NC_000017.10:g.41234516T>C	VUS	1 lab	03a3264c5f
1:94528819 ABCA4 G>A	1	94528819	94528819	G	A	ABCA4	c.1609C>T	NM_000350.2	NP_000341.2:p.(Arg537Cys)	NC_000001.10:g.94528819G>A	(Likely) pathogenic	1 lab	03a4272341
19:38986870 RYR1 C>G	19	38986870	38986870	C	G	RYR1				NC_000019.9:g.38986870C>G	VUS	1 lab	03a9d6fc12
17:44159849 KANSL1 T>C	17	44159849	44159849	T	C	KANSL1				NC_000017.10:g.44159849T>C	(Likely) benign	1 lab	03aae67585
15:57554314 TCF12 C>CT	15	57554314	57554315	C	CT	TCF12	c.1491dup	NM_207036.1	NP_996919.1:p.(Val498CysfsTer12)	NC_000015.9:g.57554315dup	(Likely) pathogenic	1 lab	03ac6e2597
2:133075966 ZNF285CP T>C	2	133075966	133075966	T	C	ZNF285CP	c.143-1775T>C	NM_001355461.1	NP_001342390.1:p.?	NC_000002.11:g.133075966T>C	VUS	1 lab	3435ecacfd
4:113825680 ANK2 G>A	4	113825680	113825680	G	A	ANK2	c.21+10G>A	NM_001127493.1	NP_001120965.1:p.?	NC_000004.11:g.113825680G>A	(Likely) benign	1 lab	349b48e6c7
14:23885181 MYH7 C>T	14	23885181	23885181	C	T	MYH7	c.4953+32G>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23885181C>T	(Likely) benign	1 lab	03bc7b0e3f
17:4802612 CHRNE G>T	17	4802612	4802612	G	T	CHRNE	c.1100C>A	NM_000080.3	NP_000071.1:p.(Ser367Ter)	NC_000017.10:g.4802612G>T	(Likely) pathogenic	1 lab	03befd25c6
6:65149103 EYS TA>T	6	65149103	65149106	TA	T	EYS	c.5786del	NM_001142800.2	NP_001136272.1:p.(Leu1929Ter)	NC_000006.11:g.65149106del	(Likely) pathogenic	1 lab	03c106c298
2:179614040 TTN C>T	2	179614040	179614040	C	T	TTN	c.11311+3811G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179614040C>T	(Likely) benign	1 lab	03c930babb
10:121431911 BAG3 C>T	10	121431911	121431911	C	T	BAG3	c.652C>T	NM_004281.4	NP_004272.2:p.(Arg218Trp)	NC_000010.10:g.121431911C>T	VUS	1 lab	03cb44d830
2:48915363 LHCGR G>A	2	48915363	48915363	G	A	LHCGR	c.1573C>T	NM_000233.3	NP_000224.2:p.(Gln525Ter)	NC_000002.11:g.48915363G>A	(Likely) pathogenic	1 lab	03ce94fbf0
8:61766065 CHD7 G>T	8	61766065	61766065	G	T	CHD7	c.6775+6G>T	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61766065G>T	(Likely) benign	1 lab	03d4341049
16:55527113 MMP2 G>A	16	55527113	55527113	G	A	MMP2	c.1380G>A	NM_004530.4	NP_004521.1:p.(Thr460=)	NC_000016.9:g.55527113G>A	(Likely) benign	1 lab	03d4866798
5:59284361 PDE4D G>C	5	59284361	59284361	G	C	PDE4D	c.226C>G	NM_001165899.1	NP_001159371.1:p.(Leu76Val)	NC_000005.9:g.59284361G>C	VUS	1 lab	357b517db3
1:165322457 LMX1A C>T	1	165322457	165322457	C	T	LMX1A	c.119G>A	NM_177398.3	NP_796372.1:p.(Arg40Gln)	NC_000001.10:g.165322457C>T	VUS	1 lab	03e1ad263e
5:133871567 JADE2 A>T	5	133871567	133871567	A	T	JADE2	c.20A>T	NM_015288.4	NP_056103.4:p.(Lys7Ile)	NC_000005.9:g.133871567A>T	(Likely) benign	1 lab	03e286e340
19:38939355 RYR1 G>A	19	38939355	38939355	G	A	RYR1	c.1024G>A	NM_000540.2	NP_000531.2:p.(Glu342Lys)	NC_000019.9:g.38939355G>A	(Likely) pathogenic	1 lab	03e5ccea61
6:7585289 DSP C>T	6	7585289	7585289	C	T	DSP	c.7794C>T	NM_004415.3	NP_004406.2:p.(Ser2598=)	NC_000006.11:g.7585289C>T	(Likely) benign	1 lab	03e69aed3e
9:75231370 TMC1 A>G	9	75231370	75231370	A	G	TMC1	c.-219A>G	NM_138691.2	NP_619636.2:p.?	NC_000009.11:g.75231370A>G	(Likely) benign	1 lab	03e8f2c7e8
2:178969169 PDE11A GTC>G	2	178969169	178969172	GTC	G	PDE11A	c.20_21del	NM_001077197.1	NP_001070665.1:p.(Arg7ThrfsTer30)	NC_000002.11:g.178969171_178969172del	VUS	1 lab	35da935da0
17:48423486 XYLT2 C>T	17	48423486	48423486	C	T	XYLT2	c.-16C>T	NM_022167.2	NP_071450.2:p.?	NC_000017.10:g.48423486C>T	(Likely) benign	1 lab	35eb81c9af
10:99518992 ZFYVE27 G>T	10	99518992	99518992	G	T	ZFYVE27	c.1187-1G>T	NM_001002261.3	NP_001002261.1:p.?	NC_000010.10:g.99518992G>T	(Likely) benign	1 lab	03f330784f
16:9916204 GRIN2A C>G	16	9916204	9916204	C	G	GRIN2A	c.2085G>C	NM_001134407.1	NP_001127879.1:p.(Arg695=)	NC_000016.9:g.9916204C>G	(Likely) benign	1 lab	03f33666fe
10:94366474 KIF11 G>A	10	94366474	94366474	G	A	KIF11	c.308+1G>A	NM_004523.3	NP_004514.2:p.?	NC_000010.10:g.94366474G>A	(Likely) pathogenic	1 lab	03f6261c42
2:228153963 COL4A3 A>C	2	228153963	228153963	A	C	COL4A3				NC_000002.11:g.228153963A>C	VUS	1 lab	03f8970b9a
8:145738648 RECQL4 C>CG	8	145738648	145738650	C	CG	RECQL4	c.2415dup	NM_004260.3	NP_004251.3:p.(Gly806ArgfsTer3)	NC_000008.10:g.145738650dup	(Likely) pathogenic	1 lab	03f8cef279
9:101547112 ANKS6 A>T	9	101547112	101547112	A	T	ANKS6	c.907+2T>A	NM_173551.3	NP_775822.3:p.?	NC_000009.11:g.101547112A>T	(Likely) pathogenic	1 lab	03faf2f1b1
X:153581410 FLNA G>A	X	153581410	153581410	G	A	FLNA				NC_000023.10:g.153581410G>A	(Likely) benign	1 lab	07efeed8b6
22:41922431 ACO2 G>A	22	41922431	41922431	G	A	ACO2	c.1927G>A	NM_001098.3	NP_001089.1:p.(Val643Ile)	NC_000022.10:g.41922431G>A	VUS	1 lab	03fc90ed3b
5:112174154 APC G>C	5	112174154	112174154	G	C	APC	c.2863G>C	NM_000038.6	NP_000029.2:p.(Glu955Gln)	NC_000005.9:g.112174154G>C	VUS	1 lab	03fd2e883b
7:104742439 KMT2E G>A	7	104742439	104742439	G	A	KMT2E				NC_000007.13:g.104742439G>A	(Likely) benign	1 lab	03fe524a89
2:228131728 COL4A3 T>A	2	228131728	228131728	T	A	COL4A3	c.1428T>A	NM_000091.4	NP_000082.2:p.(Cys476Ter)	NC_000002.11:g.228131728T>A	(Likely) pathogenic	1 lab	03ff87f76d
1:43903514 SZT2 G>A	1	43903514	43903514	G	A	SZT2	c.6278G>A	NM_015284.3	NP_056099.3:p.(Arg2093His)	NC_000001.10:g.43903514G>A	VUS	1 lab	03ffd76687
5:112173631 APC TC>T	5	112173631	112173634	TC	T	APC	c.2343del	NM_000038.6	NP_000029.2:p.(Lys782ArgfsTer38)	NC_000005.9:g.112173634del	(Likely) pathogenic	1 lab	040476b07f
3:186938911 MASP1 C>T	3	186938911	186938911	C	T	MASP1	c.1821G>A	NM_001879.5	NP_001870.3:p.(Pro607=)	NC_000003.11:g.186938911C>T	VUS	1 lab	3603f2fb87
2:179399243 TTN A>G	2	179399243	179399243	A	G	TTN	c.102099T>C	NM_001267550.2	NP_001254479.2:p.(Thr34033=)	NC_000002.11:g.179399243A>G	(Likely) benign	1 lab	0407daec7f
1:7309678 CAMTA1 G>T	1	7309678	7309678	G	T	CAMTA1	c.430G>T	NM_015215.3	NP_056030.1:p.(Gly144Ter)	NC_000001.10:g.7309678G>T	(Likely) pathogenic	1 lab	040b606c6a
14:100706212 YY1 C>T	14	100706212	100706212	C	T	YY1	c.631C>T	NM_003403.5	NP_003394.1:p.(Gln211Ter)	NC_000014.8:g.100706212C>T	(Likely) pathogenic	1 lab	040d118b03
1:215931928 USH2A T>A	1	215931928	215931928	T	A	USH2A	c.11389+9A>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215931928T>A	(Likely) benign	1 lab	040dfc50bb
11:32417947 WT1 G>A	11	32417947	32417947	G	A	WT1	c.1120C>T	NM_024426.5	NP_077744.4:p.(Arg374Ter)	NC_000011.9:g.32417947G>A	(Likely) pathogenic	1 lab	040e208933
8:87645107 CNGB3 T>C	8	87645107	87645107	T	C	CNGB3	c.1193A>G	NM_019098.4	NP_061971.3:p.(Tyr398Cys)	NC_000008.10:g.87645107T>C	VUS	1 lab	040e8a0e16
9:139401430 NOTCH1 G>C	9	139401430	139401430	G	C	NOTCH1	c.3644-5C>G	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139401430G>C	(Likely) benign	1 lab	0411dd62bd
1:196952199 CFHR5 G>A	1	196952199	196952199	G	A	CFHR5	c.243G>A	NM_030787.4	NP_110414.1:p.(Pro81=)	NC_000001.10:g.196952199G>A	(Likely) benign	1 lab	04160a0caf
7:128484261 FLNC C>A	7	128484261	128484261	C	A	FLNC	c.3133C>A	NM_001458.5	NP_001449.3:p.(His1045Asn)	NC_000007.13:g.128484261C>A	(Likely) benign	1 lab	0417e85c1f
6:42936623 PEX6 G>A	6	42936623	42936623	G	A	PEX6	c.1468C>T	NM_000287.4	NP_000278.3:p.(His490Tyr)	NC_000006.11:g.42936623G>A	VUS	1 lab	041c32fe87
8:61748724 CHD7 A>C	8	61748724	61748724	A	C	CHD7	c.3871A>C	NM_017780.3	NP_060250.2:p.(Lys1291Gln)	NC_000008.10:g.61748724A>C	(Likely) pathogenic	1 lab	041d0963bf
17:41267810 BRCA1 G>T	17	41267810	41267810	G	T	BRCA1	c.81-14C>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267810G>T	(Likely) benign	1 lab	041d87f22b
5:167933774 RARS1 G>T	5	167933774	167933774	G	T	RARS1	c.1284G>T	NM_002887.3	NP_002878.2:p.(Trp428Cys)	NC_000005.9:g.167933774G>T	VUS	1 lab	04221c563b
1:201328306 TNNT2 AG>A	1	201328306	201328308	AG	A	TNNT2	c.*31del	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201328308del	(Likely) benign	1 lab	042454f952
18:2924558 LPIN2 A>G	18	2924558	2924558	A	G	LPIN2	c.1939-14T>C	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2924558A>G	VUS	1 lab	0424df93bf
20:57430587 GNAS G>C	20	57430587	57430587	G	C	GNAS	c.1881+199G>C	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57430587G>C	(Likely) benign	1 lab	374bdc21a0
7:144094418 NOBOX T>C	7	144094418	144094418	T	C	NOBOX	c.1991A>G	NM_001080413.3	NP_001073882.3:p.(Lys664Arg)	NC_000007.13:g.144094418T>C	(Likely) benign	1 lab	378f40b3a8
17:56770003 RAD51C C>T	17	56770003	56770003	C	T	RAD51C	c.-2C>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56770003C>T	(Likely) benign	1 lab	0427b6acea
4:151835471 LRBA C>T	4	151835471	151835471	C	T	LRBA				NC_000004.11:g.151835471C>T	(Likely) pathogenic	1 lab	0429177b67
11:2168873 IGF2 C>G	11	2168873	2168873	C	G	IGF2	c.-84G>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2168873C>G	(Likely) benign	1 lab	37b65af4bc
11:2170413 IGF2 G>A	11	2170413	2170413	G	A	IGF2	c.-306C>T	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170413G>A	VUS	1 lab	383c3f9db8
8:24813630 NEFL G>A	8	24813630	24813630	G	A	NEFL	c.400C>T	NM_006158.4	NP_006149.2:p.(Arg134Cys)	NC_000008.10:g.24813630G>A	VUS	1 lab	043274b729
20:42788288 JPH2 G>A	20	42788288	42788288	G	A	JPH2	c.1139C>T	NM_020433.5	NP_065166.2:p.(Ala380Val)	NC_000020.10:g.42788288G>A	VUS	1 lab	04341fc1bc
15:52611471 MYO5A G>A	15	52611471	52611471	G	A	MYO5A				NC_000015.9:g.52611471G>A	(Likely) pathogenic	1 lab	0437ba578c
9:95481320 BICD2 T>C	9	95481320	95481320	T	C	BICD2	c.1607A>G	NM_001003800.2	NP_001003800.1:p.(Asn536Ser)	NC_000009.11:g.95481320T>C	(Likely) benign	1 lab	043c7b5b29
9:131349889 SPTAN1 T>A	9	131349889	131349889	T	A	SPTAN1	c.2783T>A	NM_001130438.2	NP_001123910.1:p.(Leu928Gln)	NC_000009.11:g.131349889T>A	VUS	1 lab	043d7e5d7e
16:89348072 ANKRD11 CG>C	16	89348072	89348074	CG	C	ANKRD11	c.4877del	NM_001256182.1	NP_001243111.1:p.(Pro1626ArgfsTer60)	NC_000016.9:g.89348074del	(Likely) pathogenic	1 lab	043db97fb0
X:32429979 DMD T>G	X	32429979	32429979	T	G	DMD	c.4111A>C	NM_004009.3	NP_004000.1:p.(Thr1371Pro)	NC_000023.10:g.32429979T>G	(Likely) benign	1 lab	0440cd905d
2:167266328 SCN7A G>T	2	167266328	167266328	G	T	SCN7A	c.3829C>A	NM_002976.4	NP_002967.2:p.(Leu1277Ile)	NC_000002.11:g.167266328G>T	(Likely) benign	1 lab	0441142408
13:32972946 BRCA2 C>A	13	32972946	32972946	C	A	BRCA2	c.*39C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972946C>A	(Likely) benign	1 lab	0441a9c0b8
20:3065260 AVP A>G	20	3065260	3065260	A	G	AVP	c.61T>C	NM_000490.4	NP_000481.2:p.(Tyr21His)	NC_000020.10:g.3065260A>G	(Likely) pathogenic	1 lab	04433f58c6
2:179460270 TTN C>T	2	179460270	179460270	C	T	TTN	c.57811G>A	NM_001267550.2	NP_001254479.2:p.(Glu19271Lys)	NC_000002.11:g.179460270C>T	VUS	1 lab	04448773c3
15:77320982 PSTPIP1 C>T	15	77320982	77320982	C	T	PSTPIP1	c.505C>T	NM_003978.5	NP_003969.2:p.(Gln169Ter)	NC_000015.9:g.77320982C>T	VUS	1 lab	04476f4bac
20:43057098 HNF4A G>A	20	43057098	43057098	G	A	HNF4A	c.1253G>A	NM_000457.6	NP_000448.3:p.(Cys418Tyr)	NC_000020.10:g.43057098G>A	VUS	1 lab	047fbd2016
16:30977405 SETD1A CAG>C	16	30977405	30977407	CAG	C	SETD1A	c.2204_2205del	NM_014712.3	NP_055527.1:p.(Gln735ArgfsTer89)	NC_000016.9:g.30977406_30977407del	(Likely) pathogenic	1 lab	04490eb2ef
2:37454981 CEBPZ T>C	2	37454981	37454981	T	C	CEBPZ	c.1355A>G	NM_005760.2	NP_005751.2:p.(His452Arg)	NC_000002.11:g.37454981T>C	(Likely) benign	1 lab	044ac217f1
3:37091976 MLH1 G>A	3	37091976	37091976	G	A	MLH1	c.2104-1G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37091976G>A	(Likely) pathogenic	1 lab	044e5d0fea
17:57775279 PTRH2 C>T	17	57775279	57775279	C	T	PTRH2	c.61G>A	NM_016077.4	NP_057161.1:p.(Val21Ile)	NC_000017.10:g.57775279C>T	(Likely) benign	1 lab	0453a904ed
2:228112246 COL4A3 A>G	2	228112246	228112246	A	G	COL4A3	c.442-28A>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228112246A>G	VUS	1 lab	04592d2ef8
2:166229840 SCN2A C>T	2	166229840	166229840	C	T	SCN2A	c.3955C>T	NM_001040142.1	NP_001035232.1:p.(Arg1319Trp)	NC_000002.11:g.166229840C>T	VUS	1 lab	045b6af45d
1:7723649 CAMTA1 C>G	1	7723649	7723649	C	G	CAMTA1	c.1042C>G	NM_015215.3	NP_056030.1:p.(Gln348Glu)	NC_000001.10:g.7723649C>G	VUS	1 lab	045be72044
13:32906412 BRCA2 T>G	13	32906412	32906412	T	G	BRCA2	c.797T>G	NM_000059.3	NP_000050.2:p.(Phe266Cys)	NC_000013.10:g.32906412T>G	VUS	1 lab	045d32a106
7:100225715 TFR2 G>T	7	100225715	100225715	G	T	TFR2	c.1518C>A	NM_003227.4	NP_003218.2:p.(Ser506Arg)	NC_000007.13:g.100225715G>T	VUS	1 lab	045e6292bb
11:9850884 SBF2 A>C	11	9850884	9850884	A	C	SBF2	c.3793+19T>G	NM_030962.3	NP_112224.1:p.?	NC_000011.9:g.9850884A>C	(Likely) benign	1 lab	37e462913a
1:202569556 SYT2 G>C	1	202569556	202569556	G	C	SYT2	c.848C>G	NM_177402.4	NP_796376.2:p.(Thr283Arg)	NC_000001.10:g.202569556G>C	VUS	1 lab	046077eca9
2:228148537 COL4A3 G>A	2	228148537	228148537	G	A	COL4A3	c.2711G>A	NM_000091.4	NP_000082.2:p.(Gly904Glu)	NC_000002.11:g.228148537G>A	(Likely) pathogenic	1 lab	04612ea854
3:41266850 CTNNB1 T>C	3	41266850	41266850	T	C	CTNNB1				NC_000003.11:g.41266850T>C	VUS	1 lab	0a87204689
14:23898508 MYH7 A>G	14	23898508	23898508	A	G	MYH7	c.1187T>C	NM_000257.2	NP_000248.2:p.(Leu396Pro)	NC_000014.8:g.23898508A>G	VUS	1 lab	0462300781
8:61734709 CHD7 G>A	8	61734709	61734709	G	A	CHD7				NC_000008.10:g.61734709G>A	(Likely) pathogenic	1 lab	04672c2e6e
15:75185111 MPI G>A	15	75185111	75185111	G	A	MPI	c.455G>A	NM_002435.3	NP_002426.1:p.(Arg152Gln)	NC_000015.9:g.75185111G>A	(Likely) pathogenic	1 lab	0468981f7b
14:102514235 DYNC1H1 A>C	14	102514235	102514235	A	C	DYNC1H1	c.13088A>C	NM_001376.4	NP_001367.2:p.(Lys4363Thr)	NC_000014.8:g.102514235A>C	VUS	1 lab	0468e52098
9:80855281 CEP78 G>T	9	80855281	80855281	G	T	CEP78	c.499+1G>T	NM_001098802.2	NP_001092272.1:p.?	NC_000009.11:g.80855281G>T	(Likely) pathogenic	1 lab	0468fa89ea
14:75070396 LTBP2 G>A	14	75070396	75070396	G	A	LTBP2	c.507C>T	NM_000428.2	NP_000419.1:p.(Cys169=)	NC_000014.8:g.75070396G>A	VUS	1 lab	046f418edd
11:76868372 MYO7A T>C	11	76868372	76868372	T	C	MYO7A	c.783T>C	NM_000260.3	NP_000251.3:p.(Gly261=)	NC_000011.9:g.76868372T>C	(Likely) benign	1 lab	0471196c2a
2:39278407 SOS1 G>A	2	39278407	39278407	G	A	SOS1	c.742C>T	NM_005633.4	NP_005624.2:p.(Arg248Cys)	NC_000002.11:g.39278407G>A	VUS	1 lab	04728cf61f
6:157100543 ARID1B C>T	6	157100543	157100543	C	T	ARID1B	c.1480C>T	NM_020732.3	NP_065783.3:p.(Gln494Ter)	NC_000006.11:g.157100543C>T	(Likely) pathogenic	1 lab	0472ce4d0e
17:41231347 BRCA1 G>C	17	41231347	41231347	G	C	BRCA1	c.4358-2716C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41231347G>C	(Likely) benign	1 lab	0473d37d98
4:103635617 MANBA G>C	4	103635617	103635617	G	C	MANBA	c.651C>G	NM_005908.3	NP_005899.3:p.(Tyr217Ter)	NC_000004.11:g.103635617G>C	(Likely) pathogenic	1 lab	04745503a2
13:52536004 ATP7B G>A	13	52536004	52536004	G	A	ATP7B	c.1915C>T	NM_000053.4	NP_000044.2:p.(His639Tyr)	NC_000013.10:g.52536004G>A	VUS	1 lab	04764a26a1
17:37884176 ERBB2 C>A	17	37884176	37884176	C	A	ERBB2	c.3647C>A	NM_004448.4	NP_004439.2:p.(Ala1216Asp)	NC_000017.10:g.37884176C>A	(Likely) benign	1 lab	0478583b86
2:233408283 CHRNG C>T	2	233408283	233408283	C	T	CHRNG	c.921-12C>T	NM_005199.4	NP_005190.4:p.?	NC_000002.11:g.233408283C>T	(Likely) benign	1 lab	047a2a3064
8:55538855 RP1 A>G	8	55538855	55538855	A	G	RP1	c.2413A>G	NM_006269.2	NP_006260.1:p.(Asn805Asp)	NC_000008.10:g.55538855A>G	(Likely) benign	1 lab	047fe83ee6
14:77755129 POMT2 T>A	14	77755129	77755129	T	A	POMT2	c.1229A>T	NM_013382.5	NP_037514.2:p.(Asp410Val)	NC_000014.8:g.77755129T>A	VUS	1 lab	048358ac43
1:228537637 OBSCN C>A	1	228537637	228537637	C	A	OBSCN	c.21066C>A	NM_001271223.2	NP_001258152.2:p.(Asp7022Glu)	NC_000001.10:g.228537637C>A	VUS	1 lab	0487c180b5
19:54684584 MBOAT7 A>G	19	54684584	54684584	A	G	MBOAT7	c.760T>C	NM_024298.4	NP_077274.3:p.(Cys254Arg)	NC_000019.9:g.54684584A>G	VUS	1 lab	0487f05718
16:23649198 PALB2 C>T	16	23649198	23649198	C	T	PALB2	c.184G>A	NM_024675.3	NP_078951.2:p.(Asp62Asn)	NC_000016.9:g.23649198C>T	(Likely) benign	1 lab	048ce28787
2:179592474 TTN C>T	2	179592474	179592474	C	T	TTN	c.19831G>A	NM_001267550.2	NP_001254479.2:p.(Asp6611Asn)	NC_000002.11:g.179592474C>T	VUS	1 lab	048e593512
16:21771976 OTOA G>A	16	21771976	21771976	G	A	OTOA	c.*115G>A	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21771976G>A	(Likely) benign	1 lab	048f427e2e
1:155254452 HCN3 C>A	1	155254452	155254452	C	A	HCN3	c.993C>A	NM_020897.3	NP_065948.1:p.(Ser331Arg)	NC_000001.10:g.155254452C>A	VUS	1 lab	048f9b4764
5:112175912 APC C>T	5	112175912	112175912	C	T	APC	c.4621C>T	NM_000038.6	NP_000029.2:p.(Gln1541Ter)	NC_000005.9:g.112175912C>T	(Likely) pathogenic	1 lab	0490ad7b90
2:47657017 MSH2 T>TA	2	47657017	47657018	T	TA	MSH2	c.1214dup	NM_000251.3	NP_000242.1:p.(Tyr405Ter)	NC_000002.11:g.47657018dup	(Likely) pathogenic	1 lab	0491597e86
13:32931893 BRCA2 C>T	13	32931893	32931893	C	T	BRCA2	c.7632C>T	NM_000059.3	NP_000050.2:p.(Gly2544=)	NC_000013.10:g.32931893C>T	(Likely) benign	1 lab	0496cf50f0
X:102979187 GLRA4 G>A	X	102979187	102979187	G	A	GLRA4	n.605C>T	NR_164162.1		NC_000023.10:g.102979187G>A	VUS	1 lab	39442c315f
5:112162891 APC C>T	5	112162891	112162891	C	T	APC	c.1495C>T	NM_000038.5	NP_000029.2:p.(Arg499Ter)	NC_000005.9:g.112162891C>T	(Likely) pathogenic	1 lab	04b7544524
3:123071442 ADCY5 G>A	3	123071442	123071442	G	A	ADCY5	c.1135-14C>T	NM_183357.2	NP_899200.1:p.?	NC_000003.11:g.123071442G>A	(Likely) benign	1 lab	0498264ce2
10:18825099 CACNB2 G>A	10	18825099	18825099	G	A	CACNB2	c.1276G>A	NM_201596.2	NP_963890.2:p.(Ala426Thr)	NC_000010.10:g.18825099G>A	VUS	1 lab	0498397fec
1:31409550 PUM1 G>C	1	31409550	31409550	G	C	PUM1	c.3375C>G	NM_001020658.1	NP_001018494.1:p.(Tyr1125Ter)	NC_000001.10:g.31409550G>C	(Likely) pathogenic	1 lab	049adfa2cb
16:2563786 ATP6V0C A>G	16	2563786	2563786	A	G	ATP6V0C	c.-25+9A>G	NM_001198569.1	NP_001185498.1:p.?	NC_000016.9:g.2563786A>G	(Likely) benign	1 lab	39de3475b1
7:94232614 SGCE G>T	7	94232614	94232614	G	T	SGCE	c.813C>A	NM_001099401.1	NP_001092871.1:p.(Cys271Ter)	NC_000007.13:g.94232614G>T	(Likely) pathogenic	1 lab	04a2d20449
14:24728305 TGM1 C>G	14	24728305	24728305	C	G	TGM1	c.1135G>C	NM_000359.2	NP_000350.1:p.(Val379Leu)	NC_000014.8:g.24728305C>G	(Likely) pathogenic	1 lab	04a309640f
19:48339521 CRX G>A	19	48339521	48339521	G	A	CRX	c.122G>A	NM_000554.6	NP_000545.1:p.(Arg41Gln)	NC_000019.9:g.48339521G>A	(Likely) pathogenic	1 lab	04a50a56f6
2:11905876 LPIN1 C>T	2	11905876	11905876	C	T	LPIN1	c.192+17C>T	NM_145693.3	NP_663731.1:p.?	NC_000002.11:g.11905876C>T	(Likely) benign	1 lab	04a660ad16
12:40703021 LRRK2 C>T	12	40703021	40703021	C	T	LRRK2	c.4303C>T	NM_198578.4	NP_940980.4:p.(Leu1435Phe)	NC_000012.11:g.40703021C>T	VUS	1 lab	04ac54d0ae
4:68619662 GNRHR A>G	4	68619662	68619662	A	G	GNRHR	c.392T>C	NM_000406.2	NP_000397.1:p.(Met131Thr)	NC_000004.11:g.68619662A>G	(Likely) pathogenic	1 lab	04aeebb711
X:137973400 FGF13 T>C	X	137973400	137973400	T	C	FGF13	c.50-182310A>G	NM_001139498.1	NP_001132970.1:p.?	NC_000023.10:g.137973400T>C	VUS	1 lab	39edb83f6c
2:39249913 SOS1 C>G	2	39249913	39249913	C	G	SOS1	c.1656G>C	NM_005633.3	NP_005624.2:p.(Arg552Ser)	NC_000002.11:g.39249913C>G	(Likely) pathogenic	1 lab	04b5bbd341
4:1806017 FGFR3 G>C	4	1806017	1806017	G	C	FGFR3	c.1076-40G>C	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806017G>C	(Likely) benign	1 lab	04b7c0aa36
3:23963101 RPL15 TCTCA>T	3	23963101	23963109	TCTCA	T	RPL15	c.378_381del	NM_001253384.1	NP_001240313.1:p.(His126GlnfsTer66)	NC_000003.11:g.23963106_23963109del	(Likely) benign	1 lab	3a9cd74da6
2:47637320 MSH2 AT>A	2	47637320	47637321	AT	A	MSH2	c.455del	NM_000251.3	NP_000242.1:p.(Met152SerfsTer22)	NC_000002.11:g.47637321del	(Likely) pathogenic	1 lab	04bde59764
1:1670815 SLC35E2A G>A	1	1670815	1670815	G	A	SLC35E2A	n.676C>T	NR_173244.1		NC_000001.10:g.1670815G>A	VUS	1 lab	3ade6eb5b7
12:2760941 CACNA1C G>A	12	2760941	2760941	G	A	CACNA1C	c.4218+7G>A	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2760941G>A	(Likely) benign	1 lab	04c16f0f3b
1:151377742 POGZ A>G	1	151377742	151377742	A	G	POGZ	c.3769T>C	NM_015100.4	NP_055915.2:p.(Cys1257Arg)	NC_000001.10:g.151377742A>G	(Likely) pathogenic	1 lab	04c53c3b8d
10:104595043 CYP17A1 A>G	10	104595043	104595043	A	G	CYP17A1	c.404T>C	NM_000102.3	NP_000093.1:p.(Phe135Ser)	NC_000010.10:g.104595043A>G	VUS	1 lab	04c75d3385
12:6184544 VWF C>T	12	6184544	6184544	C	T	VWF	c.831G>A	NM_000552.3	NP_000543.2:p.(Gln277=)	NC_000012.11:g.6184544C>T	(Likely) benign	1 lab	04cbebffd8
14:23888809 MYH7 C>T	14	23888809	23888809	C	T	MYH7	c.3736G>A	NM_000257.3	NP_000248.2:p.(Glu1246Lys)	NC_000014.8:g.23888809C>T	VUS	1 lab	04cc731f5f
19:55669138 DNAAF3 AC>A	19	55669138	55669140	AC	A	DNAAF3				NC_000019.9:g.55669140del	(Likely) benign	1 lab	04cefb172b
16:1841503 IGFALS G>A	16	1841503	1841503	G	A	IGFALS	c.916C>T	NM_004970.3	NP_004961.1:p.(Arg306Trp)	NC_000016.9:g.1841503G>A	(Likely) benign	1 lab	04d18ad200
2:48030670 MSH6 G>A	2	48030670	48030670	G	A	MSH6	c.3284G>A	NM_000179.2	NP_000170.1:p.(Arg1095His)	NC_000002.11:g.48030670G>A	VUS	1 lab	04d3b90704
15:61521321 RORA G>A	15	61521321	61521321	G	A	RORA	c.97C>T	NM_134261.3	NP_599023.1:p.(Gln33Ter)	NC_000015.9:g.61521321G>A	(Likely) pathogenic	1 lab	04d4a9120f
12:48373817 COL2A1 C>T	12	48373817	48373817	C	T	COL2A1	c.2654G>A	NM_001844.5	NP_001835.3:p.(Gly885Glu)	NC_000012.11:g.48373817C>T	(Likely) pathogenic	1 lab	04d527e2cc
2:227875224 COL4A4 G>A	2	227875224	227875224	G	A	COL4A4	c.4334-7C>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227875224G>A	(Likely) benign	1 lab	04dbe3ee0c
X:49837127 CLCN5 T>G	X	49837127	49837127	T	G	CLCN5	c.106-17T>G	NM_000084.2	NP_000075.1:p.?	NC_000023.10:g.49837127T>G	(Likely) benign	1 lab	04e0e83c5d
4:94751102 ATOH1 C>T	4	94751102	94751102	C	T	ATOH1	c.1025C>T	NM_005172.2	NP_005163.1:p.(Ser342Phe)	NC_000004.11:g.94751102C>T	VUS	1 lab	04e1aea09e
17:18631071 TRIM16L G>C	17	18631071	18631071	G	C	TRIM16L	n.907G>C	NR_172633.1		NC_000017.10:g.18631071G>C	VUS	1 lab	3bc0deea6d
1:116287478 CASQ2 T>G	1	116287478	116287478	T	G	CASQ2	c.290A>C	NM_001232.3	NP_001223.2:p.(Lys97Thr)	NC_000001.10:g.116287478T>G	(Likely) benign	1 lab	04ebbec33f
16:78143685 WWOX C>G	16	78143685	78143685	C	G	WWOX	c.183C>G	NM_016373.4	NP_057457.1:p.(Tyr61Ter)	NC_000016.9:g.78143685C>G	VUS	1 lab	04ebd606f3
4:158141825 GRIA2 T>TGC	4	158141825	158141836	T	TGC	GRIA2	c.-360_-359dup	NM_000826.3	NP_000817.2:p.?	NC_000004.11:g.158141835_158141836dup	VUS	1 lab	3bc11110fa
9:139407590 NOTCH1 G>A	9	139407590	139407590	G	A	NOTCH1	c.2354-4C>T	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139407590G>A	(Likely) benign	1 lab	04ef5d2647
6:33414352 SYNGAP1 G>GT	6	33414352	33414353	G	GT	SYNGAP1	c.3584dup	NM_006772.2	NP_006763.2:p.(Lys1196GlufsTer25)	NC_000006.11:g.33414353dup	(Likely) pathogenic	1 lab	04f22633fa
X:53622380 HUWE1 A>C	X	53622380	53622380	A	C	HUWE1	c.3164-17T>G	NM_031407.5	NP_113584.3:p.?	NC_000023.10:g.53622380A>C	VUS	1 lab	04f36e614d
17:73208176 NUP85 T>TGCGC	17	73208176	73208183	T	TGCGC	NUP85	c.361+23_361+26dup	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73208180_73208183dup	(Likely) benign	1 lab	3428d15b99
7:128480201 FLNC G>A	7	128480201	128480201	G	A	FLNC	c.1536G>A	NM_001458.4	NP_001449.3:p.(Thr512=)	NC_000007.13:g.128480201G>A	(Likely) benign	1 lab	04f3a2eb02
5:151202410 GLRA1 T>C	5	151202410	151202410	T	C	GLRA1	c.1198A>G	NM_001146040.1	NP_001139512.1:p.(Asn400Asp)	NC_000005.9:g.151202410T>C	VUS	1 lab	04f41a61ab
17:65344730 PSMD12 A>T	17	65344730	65344730	A	T	PSMD12	c.446T>A	NM_002816.3	NP_002807.1:p.(Leu149Ter)	NC_000017.10:g.65344730A>T	(Likely) pathogenic	1 lab	04f4e1f1ab
21:47850019 PCNT C>T	21	47850019	47850019	C	T	PCNT	c.7786C>T	NM_006031.5	NP_006022.3:p.(Gln2596Ter)	NC_000021.8:g.47850019C>T	(Likely) pathogenic	1 lab	04f6b1f303
16:16302602 ABCC6 G>A	16	16302602	16302602	G	A	ABCC6	c.777C>T	NM_001171.5	NP_001162.4:p.(Asn259=)	NC_000016.9:g.16302602G>A	(Likely) benign	1 lab	04f8361b3b
2:198354967 HSPD1 T>C	2	198354967	198354967	T	C	HSPD1	c.923A>G	NM_002156.4	NP_002147.2:p.(Asn308Ser)	NC_000002.11:g.198354967T>C	VUS	1 lab	04fcbdb48a
11:17635243 OTOG C>T	11	17635243	17635243	C	T	OTOG	c.6559C>T	NM_001277269.1	NP_001264198.1:p.(Arg2187Ter)	NC_000011.9:g.17635243C>T	(Likely) pathogenic	1 lab	04fd4ea852
17:19241000 B9D1 A>G	17	19241000	19241000	A	G	B9D1	c.*33T>C	NM_001321218.1	NP_001308147.1:p.?	NC_000017.10:g.19241000A>G	VUS	1 lab	3ccb8d88e7
11:62638310 SLC3A2 GTAATAA>G	11	62638310	62638329	GTAATAA	G	SLC3A2	c.113-725_113-720del	NM_001012662.2	NP_001012680.1:p.?	NC_000011.9:g.62638324_62638329del	VUS	1 lab	3d4a18de91
3:24174860 THRB G>A	3	24174860	24174860	G	A	THRB	c.832C>T	NM_001354712.2	NP_001341641.1:p.(Pro278Ser)	NC_000003.11:g.24174860G>A	VUS	1 lab	0507330052
11:66481607 SPTBN2 C>G	11	66481607	66481607	C	G	SPTBN2	c.611G>C	NM_006946.3	NP_008877.1:p.(Ser204Thr)	NC_000011.9:g.66481607C>G	(Likely) benign	1 lab	050e98bc42
2:48027775 MSH6 A>T	2	48027775	48027775	A	T	MSH6	c.2653A>T	NM_000179.2	NP_000170.1:p.(Lys885Ter)	NC_000002.11:g.48027775A>T	(Likely) pathogenic	1 lab	052a6a8ef9
3:140167536 CLSTN2 A>G	3	140167536	140167536	A	G	CLSTN2	c.963A>G	NM_022131.2	NP_071414.2:p.(Gln321=)	NC_000003.11:g.140167536A>G	(Likely) benign	1 lab	05167130b7
15:48755324 FBN1 G>A	15	48755324	48755324	G	A	FBN1	c.5179C>T	NM_000138.4	NP_000129.3:p.(Arg1727Trp)	NC_000015.9:g.48755324G>A	VUS	1 lab	0517bb6ffd
11:7005410 ZNF215 G>A	11	7005410	7005410	G	A	ZNF215	c.856G>A	NM_001354854.1	NP_001341783.1:p.(Ala286Thr)	NC_000011.9:g.7005410G>A	VUS	1 lab	3d4f5621bf
X:38145180 RPGR CTCCCCTTCCACT>C	X	38145180	38145201	CTCCCCTTCCACT	C	RPGR	c.3060_3071del	NM_001034853.2	NP_001030025.1:p.(Val1025_Glu1028del)	NC_000023.10:g.38145190_38145201del	(Likely) benign	1 lab	0518dbbe91
14:68248217 ZFYVE26 C>T	14	68248217	68248217	C	T	ZFYVE26	c.4402G>A	NM_015346.4	NP_056161.2:p.(Val1468Met)	NC_000014.8:g.68248217C>T	VUS	1 lab	0518ebe388
16:29824940 PRRT2 G>A	16	29824940	29824940	G	A	PRRT2	c.565G>A	NM_145239.2	NP_660282.2:p.(Ala189Thr)	NC_000016.9:g.29824940G>A	VUS	1 lab	051c1d5345
12:49579460 TUBA1A A>G	12	49579460	49579460	A	G	TUBA1A	c.689T>C	NM_006009.4	NP_006000.2:p.(Leu230Ser)	NC_000012.11:g.49579460A>G	(Likely) pathogenic	1 lab	051c90185b
12:88775 WASH8P A>G	12	88775	88775	A	G	WASH8P	n.1026+4A>G	NR_130745.1		NC_000012.11:g.88775A>G	VUS	1 lab	3d9cb0b49f
5:149754585 TCOF1 AG>A	5	149754585	149754589	AG	A	TCOF1	c.1351del	NM_001135243.2	NP_001128715.1:p.(Ala451LeufsTer42)	NC_000005.9:g.149754589del	(Likely) pathogenic	1 lab	051f53135f
10:112540917 RBM20 A>G	10	112540917	112540917	A	G	RBM20	c.550A>G	NM_001134363.2	NP_001127835.2:p.(Met184Val)	NC_000010.10:g.112540917A>G	(Likely) benign	1 lab	0522af5459
12:80865948 MISSING A>G	12	80865948	80865948	A	G	MISSING				NC_000012.11:g.80865948A>G	(Likely) benign	1 lab	05231034a8
11:61544781 MYRF C>T	11	61544781	61544781	C	T	MYRF	c.1636C>T	NM_001127392.3	NP_001120864.1:p.(Gln546Ter)	NC_000011.9:g.61544781C>T	(Likely) pathogenic	1 lab	05292454be
8:145024547 PLEC C>A	8	145024547	145024547	C	A	PLEC	c.194-11687G>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024547C>A	VUS	1 lab	3da11beefe
2:179478648 TTN T>C	2	179478648	179478648	T	C	TTN	c.49362A>G	NM_001267550.2	NP_001254479.2:p.(Pro16454=)	NC_000002.11:g.179478648T>C	(Likely) benign	1 lab	052f3c92bc
11:108214070 ATM G>A	11	108214070	108214070	G	A	ATM	c.8390G>A	NM_000051.4	NP_000042.3:p.(Ser2797Asn)	NC_000011.9:g.108214070G>A	VUS	1 lab	052f5864c6
11:121058674 TECTA T>G	11	121058674	121058674	T	G	TECTA				NC_000011.9:g.121058674T>G	VUS	1 lab	052f7f0e58
10:71075744 HK1 C>T	10	71075744	71075744	C	T	HK1	c.75+20308C>T	NM_001322364.1	NP_001309293.1:p.?	NC_000010.10:g.71075744C>T	VUS	1 lab	3e519dac22
11:108192094 ATM T>G	11	108192094	108192094	T	G	ATM	c.6519T>G	NM_000051.4	NP_000042.3:p.(Leu2173=)	NC_000011.9:g.108192094T>G	(Likely) benign	1 lab	05341ceb85
7:143036610 CLCN1 C>A	7	143036610	143036610	C	A	CLCN1	c.1478C>A	NM_000083.3	NP_000074.3:p.(Ala493Glu)	NC_000007.13:g.143036610C>A	VUS	1 lab	053470e20b
3:30729915 TGFBR2 G>A	3	30729915	30729915	G	A	TGFBR2	c.1436G>A	NM_003242.6	NP_003233.4:p.(Arg479Gln)	NC_000003.11:g.30729915G>A	VUS	1 lab	0534b8d179
10:88813161 GLUD1 C>A	10	88813161	88813161	C	A	GLUD1				NC_000010.10:g.88813161C>A	(Likely) pathogenic	1 lab	0537d6a2e9
1:74941373 TNNI3K A>G	1	74941373	74941373	A	G	TNNI3K	c.2121+12139A>G	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74941373A>G	(Likely) benign	1 lab	05395f9e2b
X:153171442 AVPR2 T>C	X	153171442	153171442	T	C	AVPR2	c.482T>C	NM_000054.4	NP_000045.1:p.(Leu161Pro)	NC_000023.10:g.153171442T>C	(Likely) pathogenic	1 lab	053db841e7
1:215808007 USH2A G>A	1	215808007	215808007	G	A	USH2A	c.15091C>T	NM_206933.2	NP_996816.2:p.(Arg5031Trp)	NC_000001.10:g.215808007G>A	(Likely) benign	1 lab	0543e4fe21
4:52895059 SGCB A>G	4	52895059	52895059	A	G	SGCB	c.458T>C	NM_000232.4	NP_000223.1:p.(Leu153Pro)	NC_000004.11:g.52895059A>G	VUS	1 lab	0544a0e0c8
7:101906946 CUX1 A>C	7	101906946	101906946	A	C	CUX1	c.1208-9691A>C	NM_001202544.1	NP_001189473.1:p.?	NC_000007.13:g.101906946A>C	(Likely) benign	1 lab	3f2b1d8831
11:17522638 USH1C G>A	11	17522638	17522638	G	A	USH1C	c.2340C>T	NM_153676.3	NP_710142.1:p.(Val780=)	NC_000011.9:g.17522638G>A	(Likely) benign	1 lab	0545ac5cb8
9:138661895 KCNT1 G>T	9	138661895	138661895	G	T	KCNT1	c.1613G>T	NM_020822.2	NP_065873.2:p.(Arg538Leu)	NC_000009.11:g.138661895G>T	(Likely) benign	1 lab	05464cfa58
6:152631933 SYNE1 C>T	6	152631933	152631933	C	T	SYNE1	c.16786G>A	NM_182961.3	NP_892006.3:p.(Val5596Met)	NC_000006.11:g.152631933C>T	(Likely) benign	1 lab	054baf36a2
12:131360263 RAN C>T	12	131360263	131360263	C	T	RAN	c.542C>T	NM_006325.4	NP_006316.1:p.(Ala181Val)	NC_000012.11:g.131360263C>T	VUS	1 lab	054eb02319
17:41275986 BRCA1 G>A	17	41275986	41275986	G	A	BRCA1	c.80+48C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41275986G>A	(Likely) benign	1 lab	054fe6ee5d
3:130682850 ATP2C1 T>C	3	130682850	130682850	T	C	ATP2C1	c.935T>C	NM_001378687.1	NP_001365616.1:p.(Ile312Thr)	NC_000003.11:g.130682850T>C	(Likely) pathogenic	1 lab	05517b566e
19:13246913 NACC1 C>T	19	13246913	13246913	C	T	NACC1	c.892C>T	NM_052876.4	NP_443108.1:p.(Arg298Trp)	NC_000019.9:g.13246913C>T	(Likely) pathogenic	1 lab	0556366bf5
7:140045011 SLC37A3 C>T	7	140045011	140045011	C	T	SLC37A3	c.1174+5G>A	NM_207113.1	NP_996996.1:p.?	NC_000007.13:g.140045011C>T	(Likely) benign	1 lab	05590ec687
3:12660135 RAF1 G>A	3	12660135	12660135	G	A	RAF1	c.86C>T	NM_001354689.1	NP_001341618.1:p.(Ser29Phe)	NC_000003.11:g.12660135G>A	VUS	1 lab	055b416acf
7:116340269 MET C>T	7	116340269	116340269	C	T	MET	c.1131C>T	NM_000245.3	NP_000236.2:p.(Ile377=)	NC_000007.13:g.116340269C>T	(Likely) benign	1 lab	055b42810a
13:113508826 ATP11A C>G	13	113508826	113508826	C	G	ATP11A	c.2225C>G	NM_015205.3	NP_056020.2:p.(Thr742Ser)	NC_000013.10:g.113508826C>G	VUS	1 lab	055c2ed728
2:215876371 ABCA12 T>C	2	215876371	215876371	T	C	ABCA12	c.2124A>G	NM_173076.2	NP_775099.2:p.(Ala708=)	NC_000002.11:g.215876371T>C	(Likely) benign	1 lab	055cdeffe5
11:47359007 MYBPC3 A>C	11	47359007	47359007	A	C	MYBPC3	c.2537T>G	NM_000256.3	NP_000247.2:p.(Val846Gly)	NC_000011.9:g.47359007A>C	VUS	1 lab	055d2ffc35
1:215963510 USH2A C>T	1	215963510	215963510	C	T	USH2A				NC_000001.10:g.215963510C>T	(Likely) pathogenic	1 lab	055ebbb39c
15:38988842 LINC02694 A>G	15	38988842	38988842	A	G	LINC02694	n.44A>G	NR_160786.1		NC_000015.9:g.38988842A>G	VUS	1 lab	415fef2ed2
7:124493077 POT1 C>T	7	124493077	124493077	C	T	POT1	c.818G>A	NM_015450.2	NP_056265.2:p.(Arg273Gln)	NC_000007.13:g.124493077C>T	(Likely) pathogenic	1 lab	055ff0e418
5:90024532 ADGRV1 CT>C	5	90024532	90024533	CT	C	ADGRV1	c.10209del	NM_032119.3	NP_115495.3:p.(Val3404SerfsTer5)	NC_000005.9:g.90024533del	(Likely) pathogenic	1 lab	05638943b8
12:57975733 KIF5A A>T	12	57975733	57975733	A	T	KIF5A				NC_000012.11:g.57975733A>T	VUS	1 lab	056742c1e7
2:47710229 MSH2 T>G	2	47710229	47710229	T	G	MSH2	c.*141T>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47710229T>G	(Likely) benign	1 lab	0569a4d435
6:75828862 COL12A1 CCAAGT>C	6	75828862	75828871	CCAAGT	C	COL12A1	c.7246_7250del	NM_004370.5	NP_004361.3:p.(Thr2416GlyfsTer10)	NC_000006.11:g.75828867_75828871del	(Likely) pathogenic	1 lab	056d907622
22:42606545 TCF20 AGG>A	22	42606545	42606547	AGG	A	TCF20				NC_000022.10:g.42606546_42606547del	(Likely) pathogenic	1 lab	056eeb63d8
20:62050998 KCNQ2 CAG>C	20	62050998	62051000	CAG	C	KCNQ2	c.1273_1274del	NM_172107.4	NP_742105.1:p.(Leu425ValfsTer9)	NC_000020.10:g.62050999_62051000del	VUS	1 lab	05771f14a9
1:228430942 OBSCN A>AG	1	228430942	228430946	A	AG	OBSCN	c.3268dup	NM_001271223.2	NP_001258152.2:p.(Ala1090GlyfsTer85)	NC_000001.10:g.228430946dup	(Likely) benign	1 lab	05787a4dfb
5:112175092 APC TC>T	5	112175092	112175094	TC	T	APC	c.3803del	NM_000038.6	NP_000029.2:p.(Pro1268GlnfsTer20)	NC_000005.9:g.112175094del	(Likely) pathogenic	1 lab	057acda27c
6:51923409 PKHD1 A>T	6	51923409	51923409	A	T	PKHD1	c.1234-10T>A	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51923409A>T	(Likely) benign	1 lab	058020ecfe
9:129377781 LMX1B C>T	9	129377781	129377781	C	T	LMX1B	c.259C>T	NM_002316.3	NP_002307.2:p.(Gln87Ter)	NC_000009.11:g.129377781C>T	(Likely) pathogenic	1 lab	05821a47ec
3:151176333 IGSF10 G>C	3	151176333	151176333	G	C	IGSF10	c.165C>G	NM_178822.4	NP_849144.2:p.(Ile55Met)	NC_000003.11:g.151176333G>C	VUS	1 lab	0582355498
10:89624245 PTEN GA>G	10	89624245	89624246	GA	G	PTEN	c.20del	NM_000314.8	NP_000305.3:p.(Glu7GlyfsTer17)	NC_000010.10:g.89624246del	(Likely) pathogenic	1 lab	0585a98e3d
2:167266831 SCN7A C>T	2	167266831	167266831	C	T	SCN7A	c.3610G>A	NM_002976.3	NP_002967.2:p.(Gly1204Arg)	NC_000002.11:g.167266831C>T	VUS	1 lab	05867a8461
1:3389727 ARHGEF16 C>T	1	3389727	3389727	C	T	ARHGEF16	c.1108C>T	NM_014448.3	NP_055263.2:p.(His370Tyr)	NC_000001.10:g.3389727C>T	(Likely) benign	1 lab	0586eddc06
16:51175421 SALL1 G>A	16	51175421	51175421	G	A	SALL1	c.712C>T	NM_002968.3	NP_002959.2:p.(Gln238Ter)	NC_000016.9:g.51175421G>A	(Likely) pathogenic	1 lab	058a797a73
7:153490078 DPP6 C>T	7	153490078	153490078	C	T	DPP6	c.60+43985C>T	NM_001364497.2	NP_001351426.1:p.?	NC_000007.13:g.153490078C>T	(Likely) benign	1 lab	3f39cb7db5
8:72234006 EYA1 G>T	8	72234006	72234006	G	T	EYA1	c.381C>A	NM_172058.2	NP_742055.1:p.(Tyr127Ter)	NC_000008.10:g.72234006G>T	(Likely) pathogenic	1 lab	059500b59c
6:167794815 TCP10L3 G>A	6	167794815	167794815	G	A	TCP10L3	n.345+2839C>T	NR_163193.1		NC_000006.11:g.167794815G>A	VUS	1 lab	3f49b05c02
20:57428331 GNAS G>A	20	57428331	57428331	G	A	GNAS	c.-177G>A	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428331G>A	(Likely) benign	1 lab	4030727ee6
21:45716269 PFKL G>A	21	45716269	45716269	G	A	PFKL				NC_000021.8:g.45716269G>A	(Likely) benign	1 lab	1e79227897
1:45798555 MUTYH T>C	1	45798555	45798555	T	C	MUTYH	c.420+35A>G	NM_001048174.2	NP_001041639.1:p.?	NC_000001.10:g.45798555T>C	(Likely) benign	1 lab	05a5bb0b52
14:50587079 SOS2 T>C	14	50587079	50587079	T	C	SOS2	c.3403A>G	NM_006939.4	NP_008870.2:p.(Ser1135Gly)	NC_000014.8:g.50587079T>C	(Likely) benign	1 lab	05a6daf4c3
17:59861783 BRIP1 T>C	17	59861783	59861783	T	C	BRIP1	c.1476A>G	NM_032043.3	NP_114432.2:p.(Gly492=)	NC_000017.10:g.59861783T>C	(Likely) benign	1 lab	05a7b92813
9:43849811 CNTNAP3B C>A	9	43849811	43849811	C	A	CNTNAP3B	c.1716C>A	NM_001201380.1	NP_001188309.1:p.(Asp572Glu)	NC_000009.11:g.43849811C>A	(Likely) benign	1 lab	40540c2e49
5:14507347 TRIO G>A	5	14507347	14507347	G	A	TRIO	c.8729G>A	NM_007118.4	NP_009049.2:p.(Arg2910Lys)	NC_000005.9:g.14507347G>A	VUS	1 lab	05a96560f1
X:107865968 COL4A5 G>A	X	107865968	107865968	G	A	COL4A5	c.2830G>A	NM_033380.2	NP_203699.1:p.(Gly944Arg)	NC_000023.10:g.107865968G>A	(Likely) pathogenic	1 lab	05ab74bd71
22:21576155 GGT2P C>T	22	21576155	21576155	C	T	GGT2P	n.1165G>A	NR_172944.1		NC_000022.10:g.21576155C>T	(Likely) benign	1 lab	4219ea7acd
11:76913433 MYO7A C>A	11	76913433	76913433	C	A	MYO7A	c.5132C>A	NM_000260.3	NP_000251.3:p.(Pro1711His)	NC_000011.9:g.76913433C>A	VUS	1 lab	05af291cb0
2:179422237 TTN C>T	2	179422237	179422237	C	T	TTN	c.87752G>A	NM_001267550.2	NP_001254479.2:p.(Arg29251Gln)	NC_000002.11:g.179422237C>T	(Likely) benign	1 lab	05b1c41264
1:196946869 CFHR5 T>A	1	196946869	196946869	T	A	CFHR5	c.58+17T>A	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196946869T>A	(Likely) benign	1 lab	05b37da1e5
13:102873044 FGF14 T>C	13	102873044	102873044	T	C	FGF14	c.-300-27331A>G	NM_001321931.1	NP_001308860.1:p.?	NC_000013.10:g.102873044T>C	VUS	1 lab	42a7c4f278
10:10888024 CELF2 A>G	10	10888024	10888024	A	G	CELF2	c.-55-73903A>G	NM_001326317.1	NP_001313246.1:p.?	NC_000010.10:g.10888024A>G	VUS	1 lab	42e1cf81e4
14:68195926 RDH12 A>G	14	68195926	68195926	A	G	RDH12	c.677A>G	NM_152443.2	NP_689656.2:p.(Tyr226Cys)	NC_000014.8:g.68195926A>G	(Likely) pathogenic	1 lab	05c40f65ff
20:30919048 KIF3B G>A	20	30919048	30919048	G	A	KIF3B	c.2170G>A	NM_004798.4	NP_004789.1:p.(Gly724Arg)	NC_000020.10:g.30919048G>A	VUS	1 lab	05c6bd1703
7:91570480 AKAP9 A>G	7	91570480	91570480	A	G	AKAP9	c.48+19A>G	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91570480A>G	(Likely) benign	1 lab	05c74c852c
2:179500307 TTN G>T	2	179500307	179500307	G	T	TTN	c.41744C>A	NM_001267550.2	NP_001254479.2:p.(Ala13915Glu)	NC_000002.11:g.179500307G>T	(Likely) benign	1 lab	05c7853eee
1:154145448 TPM3 G>A	1	154145448	154145448	G	A	TPM3	c.502C>T	NM_152263.2	NP_689476.2:p.(Arg168Cys)	NC_000001.10:g.154145448G>A	(Likely) pathogenic	1 lab	05c91b7c66
7:152012230 KMT2C G>A	7	152012230	152012230	G	A	KMT2C	c.583C>T	NM_170606.3	NP_733751.2:p.(Gln195Ter)	NC_000007.13:g.152012230G>A	(Likely) pathogenic	1 lab	05ca2d53fe
22:21349262 LZTR1 G>A	22	21349262	21349262	G	A	LZTR1	c.1889G>A	NM_006767.3	NP_006758.2:p.(Arg630Gln)	NC_000022.10:g.21349262G>A	VUS	1 lab	05cb365e34
2:73675669 MISSING T>G	2	73675669	73675669	T	G	MISSING				NC_000002.11:g.73675669T>G	(Likely) benign	1 lab	05cdaa0221
7:151329162 PRKAG2 C>A	7	151329162	151329162	C	A	PRKAG2	c.747G>T	NM_016203.3	NP_057287.2:p.(Glu249Asp)	NC_000007.13:g.151329162C>A	VUS	1 lab	05e7640118
X:85212856 CHM ATACCTT>A	X	85212856	85212864	ATACCTT	A	CHM	c.938_940+3del	NM_000390.3	NP_000381.1:p.?	NC_000023.10:g.85212859_85212864del	(Likely) pathogenic	1 lab	05d24cc05a
2:179613082 TTN A>G	2	179613082	179613082	A	G	TTN	c.11311+4769T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613082A>G	(Likely) benign	1 lab	05d3116b53
X:10085421 WWC3 G>A	X	10085421	10085421	G	A	WWC3	c.1322G>A	NM_015691.3	NP_056506.2:p.(Arg441Gln)	NC_000023.10:g.10085421G>A	(Likely) benign	1 lab	43ba44aeaa
12:91445303 KERA G>A	12	91445303	91445303	G	A	KERA	c.887-8C>T	NM_007035.3	NP_008966.1:p.?	NC_000012.11:g.91445303G>A	(Likely) benign	1 lab	05d6ef2227
13:113803328 F10 G>A	13	113803328	113803328	G	A	F10	c.964G>A	NM_000504.3	NP_000495.1:p.(Asp322Asn)	NC_000013.10:g.113803328G>A	(Likely) pathogenic	1 lab	05d7c81132
2:196746610 DNAH7 C>T	2	196746610	196746610	C	T	DNAH7	c.5870G>A	NM_018897.2	NP_061720.2:p.(Arg1957Gln)	NC_000002.11:g.196746610C>T	VUS	1 lab	05d9650cbf
11:76885916 MYO7A C>T	11	76885916	76885916	C	T	MYO7A				NC_000011.9:g.76885916C>T	VUS	1 lab	05d988b313
16:2162788 PKD1 C>G	16	2162788	2162788	C	G	PKD1	c.3161+1G>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2162788C>G	(Likely) pathogenic	1 lab	05eef95f45
4:15569375 CC2D2A C>T	4	15569375	15569375	C	T	CC2D2A	c.3364C>T	NM_001080522.2	NP_001073991.2:p.(Pro1122Ser)	NC_000004.11:g.15569375C>T	(Likely) pathogenic	1 lab	05dcfced40
9:65626531 CNTNAP3P2 A>G	9	65626531	65626531	A	G	CNTNAP3P2	n.2338A>G	NR_111893.2		NC_000009.11:g.65626531A>G	(Likely) benign	1 lab	43da854025
1:237664113 RYR2 G>A	1	237664113	237664113	G	A	RYR2	c.2306G>A	NM_001035.2	NP_001026.2:p.(Arg769Gln)	NC_000001.10:g.237664113G>A	(Likely) pathogenic	1 lab	05e1d29e87
12:89998096 ATP2B1 C>T	12	89998096	89998096	C	T	ATP2B1	c.2470G>A	NM_001682.2	NP_001673.2:p.(Glu824Lys)	NC_000012.11:g.89998096C>T	VUS	1 lab	05e6825afe
11:108158382 ATM C>T	11	108158382	108158382	C	T	ATM	c.4049C>T	NM_000051.3	NP_000042.3:p.(Thr1350Met)	NC_000011.9:g.108158382C>T	(Likely) benign	1 lab	05e6beef11
17:57746281 CLTC C>T	17	57746281	57746281	C	T	CLTC				NC_000017.10:g.57746281C>T	(Likely) pathogenic	1 lab	077e3ffe88
10:8106093 GATA3 C>T	10	8106093	8106093	C	T	GATA3	c.916C>T	NM_001002295.1	NP_001002295.1:p.(Arg306Ter)	NC_000010.10:g.8106093C>T	(Likely) pathogenic	1 lab	05ec0bd670
X:38135871 RPGR T>C	X	38135871	38135871	T	C	RPGR	c.2060A>G	NM_000328.2	NP_000319.1:p.(Asn687Ser)	NC_000023.10:g.38135871T>C	(Likely) benign	1 lab	448455a1ef
8:100523503 VPS13B G>T	8	100523503	100523503	G	T	VPS13B	c.4471G>T	NM_017890.4	NP_060360.3:p.(Glu1491Ter)	NC_000008.10:g.100523503G>T	(Likely) pathogenic	1 lab	05ee17f066
12:103246712 PAH GC>G	12	103246712	103246713	GC	G	PAH	c.722del	NM_000277.3	NP_000268.1:p.(Arg241ProfsTer100)	NC_000012.11:g.103246713del	(Likely) pathogenic	1 lab	05ee7e7922
5:140908020 DIAPH1 C>A	5	140908020	140908020	C	A	DIAPH1	c.3148G>T	NM_005219.4	NP_005210.3:p.(Val1050Phe)	NC_000005.9:g.140908020C>A	VUS	1 lab	05f375d5f1
14:23886153 MYH7 A>G	14	23886153	23886153	A	G	MYH7	c.4568T>C	NM_000257.2	NP_000248.2:p.(Ile1523Thr)	NC_000014.8:g.23886153A>G	VUS	1 lab	05f3f4430e
19:10909210 DNM2 A>G	19	10909210	10909210	A	G	DNM2	c.1384A>G	NM_001005360.2	NP_001005360.1:p.(Thr462Ala)	NC_000019.9:g.10909210A>G	VUS	1 lab	05f52cef28
2:179444834 TTN G>A	2	179444834	179444834	G	A	TTN	c.67180C>T	NM_001267550.2	NP_001254479.2:p.(Arg22394Cys)	NC_000002.11:g.179444834G>A	VUS	1 lab	05f5847c02
2:47637426 MSH2 T>C	2	47637426	47637426	T	C	MSH2	c.560T>C	NM_000251.2	NP_000242.1:p.(Leu187Pro)	NC_000002.11:g.47637426T>C	(Likely) pathogenic	1 lab	05f7bcb427
1:43396539 SLC2A1 T>G	1	43396539	43396539	T	G	SLC2A1	c.276-2A>C	NM_006516.2	NP_006507.2:p.?	NC_000001.10:g.43396539T>G	(Likely) pathogenic	1 lab	05f8079396
1:228464168 OBSCN G>C	1	228464168	228464168	G	C	OBSCN	c.7363G>C	NM_001271223.2	NP_001258152.2:p.(Val2455Leu)	NC_000001.10:g.228464168G>C	(Likely) benign	1 lab	05f9384c3f
16:30098017 TBX6 C>T	16	30098017	30098017	C	T	TBX6				NC_000016.9:g.30098017C>T	(Likely) pathogenic	1 lab	05f964f1f5
17:10543065 MYH3 T>G	17	10543065	10543065	T	G	MYH3	c.2737A>C	NM_002470.3	NP_002461.2:p.(Lys913Gln)	NC_000017.10:g.10543065T>G	(Likely) benign	1 lab	05f9c3bc83
19:1206602 STK11 C>T	19	1206602	1206602	C	T	STK11	c.-311C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1206602C>T	(Likely) benign	1 lab	05fa12f6ac
9:21974921 CDKN2A C>T	9	21974921	21974921	C	T	CDKN2A	c.-95G>A	NM_000077.4	NP_000068.1:p.?	NC_000009.11:g.21974921C>T	VUS	1 lab	4b9b44171c
19:36304179 PRODH2 G>A	19	36304179	36304179	G	A	PRODH2	c.5C>T	NM_021232.1	NP_067055.1:p.(Ser2Leu)	NC_000019.9:g.36304179G>A	(Likely) benign	1 lab	44a2da1390
8:94797504 TMEM67 G>T	8	94797504	94797504	G	T	TMEM67	c.1186G>T	NM_153704.6	NP_714915.3:p.(Asp396Tyr)	NC_000008.10:g.94797504G>T	VUS	1 lab	05fe4d0b84
16:15844100 MYH11 G>A	16	15844100	15844100	G	A	MYH11	c.1974C>T	NM_001040114.1	NP_001035203.1:p.(Arg658=)	NC_000016.9:g.15844100G>A	(Likely) benign	1 lab	05fef806e3
12:6128749 VWF C>T	12	6128749	6128749	C	T	VWF	c.3835G>A	NM_000552.3	NP_000543.2:p.(Val1279Ile)	NC_000012.11:g.6128749C>T	VUS	1 lab	06063415de
2:152364520 NEB A>AG	2	152364520	152364522	A	AG	NEB	c.23554dup	NM_001271208.1	NP_001258137.1:p.(Leu7852ProfsTer7)	NC_000002.11:g.152364522dup	(Likely) pathogenic	1 lab	06090639dd
17:62018538 SCN4A C>G	17	62018538	62018538	C	G	SCN4A	c.5104G>C	NM_000334.4	NP_000325.4:p.(Glu1702Gln)	NC_000017.10:g.62018538C>G	(Likely) pathogenic	1 lab	060923f265
2:166848424 SCN1A CT>C	2	166848424	166848425	CT	C	SCN1A	c.5360del	NM_001165963.1	NP_001159435.1:p.(Glu1787GlyfsTer14)	NC_000002.11:g.166848425del	(Likely) pathogenic	1 lab	060aa8addc
X:73963350 NEXMIF G>A	X	73963350	73963350	G	A	NEXMIF				NC_000023.10:g.73963350G>A	(Likely) pathogenic	1 lab	0935f2b9e8
2:228131215 COL4A3 T>C	2	228131215	228131215	T	C	COL4A3	c.1398T>C	NM_000091.5	NP_000082.2:p.(Asp466=)	NC_000002.11:g.228131215T>C	(Likely) benign	1 lab	060c7bad66
15:89398586 ACAN G>T	15	89398586	89398586	G	T	ACAN				NC_000015.9:g.89398586G>T	(Likely) pathogenic	1 lab	a40b29ffc1
19:38976799 RYR1 A>C	19	38976799	38976799	A	C	RYR1	c.5504A>C	NM_000540.2	NP_000531.2:p.(Glu1835Ala)	NC_000019.9:g.38976799A>C	VUS	1 lab	060d444bc4
6:7577233 DSP G>A	6	7577233	7577233	G	A	DSP	c.2835G>A	NM_004415.2	NP_004406.2:p.(Glu945=)	NC_000006.11:g.7577233G>A	(Likely) benign	1 lab	060e3f02fa
19:50795558 MYH14 G>A	19	50795558	50795558	G	A	MYH14	c.5168G>A	NM_001145809.2	NP_001139281.1:p.(Arg1723His)	NC_000019.9:g.50795558G>A	(Likely) benign	1 lab	060f7d7523
18:47373609 MYO5B G>A	18	47373609	47373609	G	A	MYO5B	c.4366C>T	NM_001080467.3	NP_001073936.1:p.(Gln1456Ter)	NC_000018.9:g.47373609G>A	(Likely) pathogenic	1 lab	06107b0182
X:41448822 CASK CTT>C	X	41448822	41448825	CTT	C	CASK				NC_000023.10:g.41448824_41448825del	(Likely) pathogenic	1 lab	0834174b80
4:619800 PDE6B G>A	4	619800	619800	G	A	PDE6B	c.385G>A	NM_000283.4	NP_000274.3:p.(Glu129Lys)	NC_000004.11:g.619800G>A	(Likely) pathogenic	1 lab	0619f47f9e
16:21416161 NPIPB3 G>T	16	21416161	21416161	G	T	NPIPB3	c.1096C>A	NM_130464.2	NP_569731.2:p.(Leu366Ile)	NC_000016.9:g.21416161G>T	(Likely) benign	1 lab	44e5b77400
12:23893804 SOX5 T>TA	12	23893804	23893805	T	TA	SOX5	c.737_738insT	NM_006940.4	NP_008871.3:p.(Glu246AspfsTer41)	NC_000012.11:g.23893804_23893805insA	(Likely) pathogenic	1 lab	061c1ba7c6
17:41246320 BRCA1 C>T	17	41246320	41246320	C	T	BRCA1	c.1228G>A	NM_007294.4	NP_009225.1:p.(Ala410Thr)	NC_000017.10:g.41246320C>T	VUS	1 lab	061c5b13e8
7:128481196 FLNC T>C	7	128481196	128481196	T	C	FLNC	c.1814-28T>C	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128481196T>C	(Likely) benign	1 lab	061c90d2d2
7:91694632 AKAP9 A>G	7	91694632	91694632	A	G	AKAP9	c.6065A>G	NM_005751.4	NP_005742.4:p.(Gln2022Arg)	NC_000007.13:g.91694632A>G	VUS	1 lab	061d079f68
1:152287839 FLG C>A	1	152287839	152287839	C	A	FLG	c.94G>T	NM_002016.2	NP_002007.1:p.(Glu32Ter)	NC_000001.10:g.152287839C>A	(Likely) pathogenic	1 lab	061e5b3595
9:126133497 CRB2 C>T	9	126133497	126133497	C	T	CRB2	c.2076C>T	NM_173689.6	NP_775960.4:p.(Ser692=)	NC_000009.11:g.126133497C>T	(Likely) benign	1 lab	061f52afbf
2:73675844 MISSING C>T	2	73675844	73675844	C	T	MISSING				NC_000002.11:g.73675844C>T	(Likely) benign	1 lab	0620ecde94
X:43591031 MAOA C>T	X	43591031	43591031	C	T	MAOA				NC_000023.10:g.43591031C>T	(Likely) pathogenic	1 lab	a9c51ddff0
11:89424192 FOLH1B A>G	11	89424192	89424192	A	G	FOLH1B	n.1397A>G	NR_175944.1		NC_000011.9:g.89424192A>G	VUS	1 lab	45659ec1b6
10:89720772 PTEN G>A	10	89720772	89720772	G	A	PTEN	c.923G>A	NM_000314.4	NP_000305.3:p.(Arg308His)	NC_000010.10:g.89720772G>A	VUS	1 lab	06257cd204
16:16256865 ABCC6 C>T	16	16256865	16256865	C	T	ABCC6	c.3491G>A	NM_001171.6	NP_001162.5:p.(Arg1164Gln)	NC_000016.9:g.16256865C>T	(Likely) pathogenic	1 lab	06264c3f0c
3:49760749 GMPPB GC>G	3	49760749	49760756	GC	G	GMPPB	c.211-15del	NM_013334.3	NP_037466.2:p.?	NC_000003.11:g.49760756del	(Likely) benign	1 lab	06284654f5
20:57429715 GNAS A>C	20	57429715	57429715	A	C	GNAS	c.1208A>C	NM_001077490.1	NP_001070958.1:p.(Gln403Pro)	NC_000020.10:g.57429715A>C	VUS	1 lab	4572b4c0c3
2:228137833 COL4A3 G>A	2	228137833	228137833	G	A	COL4A3	c.1927G>A	NM_000091.4	NP_000082.2:p.(Gly643Ser)	NC_000002.11:g.228137833G>A	(Likely) pathogenic	1 lab	0629f28261
2:86332809 POLR1A G>A	2	86332809	86332809	G	A	POLR1A	c.77+14C>T	NM_015425.3	NP_056240.2:p.?	NC_000002.11:g.86332809G>A	(Likely) benign	1 lab	062c8e1cb6
2:241715312 KIF1A G>A	2	241715312	241715312	G	A	KIF1A	c.914C>T	NM_001244008.2	NP_001230937.1:p.(Pro305Leu)	NC_000002.11:g.241715312G>A	(Likely) pathogenic	1 lab	0630fa53da
9:129455529 LMX1B G>A	9	129455529	129455529	G	A	LMX1B	c.668G>A	NM_002316.3	NP_002307.2:p.(Arg223Gln)	NC_000009.11:g.129455529G>A	(Likely) pathogenic	1 lab	063b1b9b11
11:76873195 MYO7A A>G	11	76873195	76873195	A	G	MYO7A	c.1373A>G	NM_000260.3	NP_000251.3:p.(Asn458Ser)	NC_000011.9:g.76873195A>G	VUS	1 lab	063c472c05
16:2140533 PKD1 C>T	16	2140533	2140533	C	T	PKD1	c.12197G>A	NM_001009944.2	NP_001009944.2:p.(Cys4066Tyr)	NC_000016.9:g.2140533C>T	VUS	1 lab	342a11c0b1
20:33587384 MYH7B C>T	20	33587384	33587384	C	T	MYH7B	c.4677C>T	NM_020884.4	NP_065935.3:p.(Ser1559=)	NC_000020.10:g.33587384C>T	(Likely) benign	1 lab	063fcd3f79
2:179579259 TTN C>T	2	179579259	179579259	C	T	TTN	c.26242G>A	NM_001267550.2	NP_001254479.2:p.(Val8748Ile)	NC_000002.11:g.179579259C>T	(Likely) benign	1 lab	0644c7399b
8:72211303 EYA1 C>T	8	72211303	72211303	C	T	EYA1	c.805G>A	NM_000503.5	NP_000494.2:p.(Ala269Thr)	NC_000008.10:g.72211303C>T	(Likely) benign	1 lab	06460b62bf
2:32352084 SPAST C>A	2	32352084	32352084	C	A	SPAST	c.1166C>A	NM_014946.4	NP_055761.2:p.(Thr389Lys)	NC_000002.11:g.32352084C>A	(Likely) pathogenic	1 lab	0648e23bd7
17:29653050 NF1 A>T	17	29653050	29653050	A	T	NF1	c.5048A>T	NM_001042492.3	NP_001035957.1:p.(Asn1683Ile)	NC_000017.10:g.29653050A>T	VUS	1 lab	064a31eed9
7:80290477 CD36 C>G	7	80290477	80290477	C	G	CD36				NC_000007.13:g.80290477C>G	(Likely) pathogenic	1 lab	064cc1f27b
4:187209608 F11 G>A	4	187209608	187209608	G	A	F11	c.1718G>A	NM_000128.3	NP_000119.1:p.(Gly573Glu)	NC_000004.11:g.187209608G>A	(Likely) pathogenic	1 lab	064d2b1c32
X:119580146 LAMP2 A>AT	X	119580146	119580147	A	AT	LAMP2	c.864+13_864+14insA	NM_002294.2	NP_002285.1:p.?	NC_000023.10:g.119580146_119580147insT	(Likely) benign	1 lab	064e758870
2:179639038 TTN C>T	2	179639038	179639038	C	T	TTN	c.6953G>A	NM_001267550.2	NP_001254479.2:p.(Arg2318His)	NC_000002.11:g.179639038C>T	VUS	1 lab	064f3f9d36
3:12650848 RAF1 A>T	3	12650848	12650848	A	T	RAF1	c.321-14T>A	NM_002880.3	NP_002871.1:p.?	NC_000003.11:g.12650848A>T	(Likely) benign	1 lab	06537ddcf6
11:2909495 SLC67A1-AS A>G	11	2909495	2909495	A	G	SLC67A1-AS	n.1009T>C	NR_169304.1		NC_000011.9:g.2909495A>G	VUS	1 lab	52dc65604a
5:14502712 TRIO T>A	5	14502712	14502712	T	A	TRIO	c.8357T>A	NM_007118.4	NP_009049.2:p.(Val2786Glu)	NC_000005.9:g.14502712T>A	VUS	1 lab	0656ed1142
3:57233823 HESX1 G>A	3	57233823	57233823	G	A	HESX1	c.124C>T	NM_003865.2	NP_003856.1:p.(His42Tyr)	NC_000003.11:g.57233823G>A	(Likely) benign	1 lab	065a70c4f6
1:94578572 ABCA4 C>T	1	94578572	94578572	C	T	ABCA4	c.117G>A	NM_000350.2	NP_000341.2:p.(Leu39=)	NC_000001.10:g.94578572C>T	(Likely) benign	1 lab	065a8a0e4c
7:47968928 PKD1L1 A>G	7	47968928	47968928	A	G	PKD1L1	c.933T>C	NM_138295.3	NP_612152.1:p.(Arg311=)	NC_000007.13:g.47968928A>G	VUS	1 lab	065c532920
12:58016690 SLC26A10P G>C	12	58016690	58016690	G	C	SLC26A10P	n.1606G>C	NR_166678.1		NC_000012.11:g.58016690G>C	VUS	1 lab	46ca02523c
19:18898315 COMP C>T	19	18898315	18898315	C	T	COMP	c.1120G>A	NM_000095.3	NP_000086.2:p.(Asp374Asn)	NC_000019.9:g.18898315C>T	(Likely) pathogenic	1 lab	0661f893e8
15:69732736 KIF23 C>T	15	69732736	69732736	C	T	KIF23	c.2019C>T	NM_001367805.3	NP_001354734.1:p.(Thr673=)	NC_000015.9:g.69732736C>T	(Likely) benign	1 lab	06641ab76d
X:29938208 IL1RAPL1 C>T	X	29938208	29938208	C	T	IL1RAPL1	c.1054C>T	NM_014271.3	NP_055086.1:p.(Arg352Ter)	NC_000023.10:g.29938208C>T	(Likely) pathogenic	1 lab	06661e4bb4
6:51611517 PKHD1 A>G	6	51611517	51611517	A	G	PKHD1	c.9998+2T>C	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51611517A>G	(Likely) pathogenic	1 lab	066c3c189b
1:237890462 RYR2 G>T	1	237890462	237890462	G	T	RYR2	c.10801G>T	NM_001035.2	NP_001026.2:p.(Ala3601Ser)	NC_000001.10:g.237890462G>T	(Likely) benign	1 lab	066cb9f9f9
11:71817260 LRTOMT A>C	11	71817260	71817260	A	C	LRTOMT	c.358+4A>C	NM_001145309.3	NP_001138781.1:p.?	NC_000011.9:g.71817260A>C	(Likely) pathogenic	1 lab	066cd15f0c
10:123263478 FGFR2 C>G	10	123263478	123263478	C	G	FGFR2	c.1288-23G>C	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123263478C>G	(Likely) benign	1 lab	066d9903da
12:32906866 YARS2 G>C	12	32906866	32906866	G	C	YARS2	c.933C>G	NM_001040436.2	NP_001035526.1:p.(Asp311Glu)	NC_000012.11:g.32906866G>C	(Likely) pathogenic	1 lab	0670035752
3:37089133 MLH1 G>C	3	37089133	37089133	G	C	MLH1	c.1855G>C	NM_000249.3	NP_000240.1:p.(Ala619Pro)	NC_000003.11:g.37089133G>C	(Likely) pathogenic	1 lab	0675efd720
6:76542621 MYO6 GA>G	6	76542621	76542623	GA	G	MYO6				NC_000006.11:g.76542623del	(Likely) pathogenic	1 lab	6bf6a42375
16:89556758 ANKRD11 AGGC>A	16	89556758	89556777	AGGC	A	ANKRD11	c.-253_-251del	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89556775_89556777del	(Likely) benign	1 lab	0678205d06
2:179539797 TTN G>C	2	179539797	179539797	G	C	TTN	c.34581C>G	NM_001267550.2	NP_001254479.2:p.(Leu11527=)	NC_000002.11:g.179539797G>C	(Likely) benign	1 lab	0679616add
19:51192136 SHANK1 G>A	19	51192136	51192136	G	A	SHANK1	c.2137C>T	NM_016148.5	NP_057232.2:p.(Arg713Ter)	NC_000019.9:g.51192136G>A	(Likely) pathogenic	1 lab	067c768bc5
6:110422797 WASF1 G>A	6	110422797	110422797	G	A	WASF1	c.1516C>T	NM_003931.3	NP_003922.1:p.(Arg506Ter)	NC_000006.11:g.110422797G>A	(Likely) pathogenic	1 lab	0684701aec
7:128482411 FLNC C>G	7	128482411	128482411	C	G	FLNC	c.2248C>G	NM_001458.5	NP_001449.3:p.(Pro750Ala)	NC_000007.13:g.128482411C>G	VUS	1 lab	068552bd8f
9:14398597 NFIB C>G	9	14398597	14398597	C	G	NFIB	c.34G>C	NM_001190738.1	NP_001177667.1:p.(Val12Leu)	NC_000009.11:g.14398597C>G	(Likely) benign	1 lab	46cc15cf14
2:166850832 SCN1A A>G	2	166850832	166850832	A	G	SCN1A	c.4676T>C	NM_001165963.4	NP_001159435.1:p.(Met1559Thr)	NC_000002.11:g.166850832A>G	(Likely) pathogenic	1 lab	06887be694
17:29557277 NF1 G>T	17	29557277	29557277	G	T	NF1	c.2991-1G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29557277G>T	(Likely) pathogenic	1 lab	068d9e6122
19:11559801 PRKCSH T>C	19	11559801	11559801	T	C	PRKCSH	c.1338T>C	NM_002743.3	NP_002734.2:p.(Leu446=)	NC_000019.9:g.11559801T>C	(Likely) benign	1 lab	069598f8c1
11:2190989 TH AG>A	11	2190989	2190994	AG	A	TH	c.295del	NM_199292.2	NP_954986.2:p.(Leu99TrpfsTer15)	NC_000011.9:g.2190994del	(Likely) pathogenic	1 lab	0697c59899
X:140335818 SPANXC C>T	X	140335818	140335818	C	T	SPANXC	c.126G>A	NM_022661.2	NP_073152.1:p.(Met42Ile)	NC_000023.10:g.140335818C>T	VUS	1 lab	47707585dd
7:101921280 CUX1 G>A	7	101921280	101921280	G	A	CUX1	c.1576G>A	NM_001202544.1	NP_001189473.1:p.(Ala526Thr)	NC_000007.13:g.101921280G>A	(Likely) benign	1 lab	47c029a668
14:21865982 CHD8 C>A	14	21865982	21865982	C	A	CHD8	c.5051G>T	NM_001170629.2	NP_001164100.1:p.(Gly1684Val)	NC_000014.8:g.21865982C>A	(Likely) benign	1 lab	069e382e06
10:31608166 ZEB1 G>T	10	31608166	31608166	G	T	ZEB1	c.3G>T	NM_001174096.1	NP_001167567.1:p.(Met1?)	NC_000010.10:g.31608166G>T	(Likely) pathogenic	1 lab	069f2b9487
X:103040643 PLP1 T>C	X	103040643	103040643	T	C	PLP1	c.137T>C	NM_001128834.2	NP_001122306.1:p.(Leu46Pro)	NC_000023.10:g.103040643T>C	(Likely) pathogenic	1 lab	069fcb54ca
13:28195935 POLR1D G>A	13	28195935	28195935	G	A	POLR1D	c.-59+658G>A	NM_001206559.1	NP_001193488.1:p.?	NC_000013.10:g.28195935G>A	VUS	1 lab	48642ad109
4:120107115 MYOZ2 C>T	4	120107115	120107115	C	T	MYOZ2	c.561-6C>T	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107115C>T	(Likely) benign	1 lab	06a0a3dd10
2:179447097 TTN C>T	2	179447097	179447097	C	T	TTN	c.66086G>A	NM_001267550.2	NP_001254479.2:p.(Arg22029His)	NC_000002.11:g.179447097C>T	VUS	1 lab	06a232f6f4
19:13340972 CACNA1A G>A	19	13340972	13340972	G	A	CACNA1A	c.5452C>T	NM_001127222.2	NP_001120694.1:p.(Arg1818Ter)	NC_000019.9:g.13340972G>A	(Likely) pathogenic	1 lab	06a547b05d
1:152276459 FLG C>T	1	152276459	152276459	C	T	FLG	c.10903G>A	NM_002016.1	NP_002007.1:p.(Asp3635Asn)	NC_000001.10:g.152276459C>T	(Likely) benign	1 lab	06a65a0a57
2:208994187 CRYGC C>T	2	208994187	208994187	C	T	CRYGC	c.230G>A	NM_020989.3	NP_066269.1:p.(Arg77His)	NC_000002.11:g.208994187C>T	VUS	1 lab	06a890b93e
8:100831638 VPS13B A>G	8	100831638	100831638	A	G	VPS13B	c.8697-2A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100831638A>G	(Likely) pathogenic	1 lab	06ab37889a
X:152991613 ABCD1 G>A	X	152991613	152991613	G	A	ABCD1	c.892G>A	NM_000033.3	NP_000024.2:p.(Gly298Ser)	NC_000023.10:g.152991613G>A	(Likely) pathogenic	1 lab	06ac512a70
3:10184519 VHL T>C	3	10184519	10184519	T	C	VHL	c.340+648T>C	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10184519T>C	(Likely) benign	1 lab	06ae6e96b5
12:6127971 VWF GTGACGTGGA>G	12	6127971	6127982	GTGACGTGGA	G	VWF	c.4604_4612del	NM_000552.3	NP_000543.2:p.(Ile1535_Val1537del)	NC_000012.11:g.6127974_6127982del	(Likely) pathogenic	1 lab	06aef777ec
11:2909513 SLC67A1-AS C>G	11	2909513	2909513	C	G	SLC67A1-AS	n.991G>C	NR_169304.1		NC_000011.9:g.2909513C>G	(Likely) benign	1 lab	48c4a5ae70
2:216269254 FN1 T>G	2	216269254	216269254	T	G	FN1	c.3111A>C	NM_212482.1	NP_997647.1:p.(Gly1037=)	NC_000002.11:g.216269254T>G	(Likely) benign	1 lab	06b24a67ea
1:185892739 HMCN1 C>A	1	185892739	185892739	C	A	HMCN1	c.1239C>A	NM_031935.2	NP_114141.2:p.(Tyr413Ter)	NC_000001.10:g.185892739C>A	VUS	1 lab	06b2d7764f
19:45207456 CEACAM16 G>A	19	45207456	45207456	G	A	CEACAM16	c.551G>A	NM_001039213.3	NP_001034302.2:p.(Arg184Gln)	NC_000019.9:g.45207456G>A	VUS	1 lab	06b3c06e68
10:89727402 PTEN C>T	10	89727402	89727402	C	T	PTEN	c.*2173C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89727402C>T	(Likely) benign	1 lab	06b4284cd5
14:36988647 NKX2-1 C>A	14	36988647	36988647	C	A	NKX2-1	c.-85G>T	NM_003317.3	NP_003308.1:p.?	NC_000014.8:g.36988647C>A	(Likely) benign	1 lab	06b457201e
12:88482810 CEP290 T>A	12	88482810	88482810	T	A	CEP290	c.4028A>T	NM_025114.4	NP_079390.3:p.(Lys1343Met)	NC_000012.11:g.88482810T>A	VUS	1 lab	06b572b964
2:48030569 MSH6 G>A	2	48030569	48030569	G	A	MSH6	c.3183G>A	NM_000179.2	NP_000170.1:p.(Leu1061=)	NC_000002.11:g.48030569G>A	(Likely) benign	1 lab	06b610e624
4:114186089 ANK2 G>A	4	114186089	114186089	G	A	ANK2	c.1423G>A	NM_001148.4	NP_001139.3:p.(Gly475Arg)	NC_000004.11:g.114186089G>A	VUS	1 lab	06b6a77dfc
9:140127125 SLC34A3 G>A	9	140127125	140127125	G	A	SLC34A3	c.274G>A	NM_080877.2	NP_543153.1:p.(Val92Ile)	NC_000009.11:g.140127125G>A	(Likely) benign	1 lab	06b9d1c42d
22:29090043 CHEK2 C>T	22	29090043	29090043	C	T	CHEK2	c.1438G>A	NM_007194.3	NP_009125.1:p.(Ala480Thr)	NC_000022.10:g.29090043C>T	VUS	1 lab	06bca95860
1:94466460 ABCA4 A>T	1	94466460	94466460	A	T	ABCA4	c.6411T>A	NM_000350.2	NP_000341.2:p.(Cys2137Ter)	NC_000001.10:g.94466460A>T	(Likely) pathogenic	1 lab	06bd1829e1
16:5289865 RBFOX1 G>C	16	5289865	5289865	G	C	RBFOX1	c.98G>C	NM_001415887.1	NP_001402816.1:p.(Ser33Thr)	NC_000016.9:g.5289865G>C	(Likely) benign	1 lab	48cfdb95df
10:26286142 MYO3A A>G	10	26286142	26286142	A	G	MYO3A				NC_000010.10:g.26286142A>G	VUS	1 lab	06c1726b21
6:129722399 LAMA2 C>T	6	129722399	129722399	C	T	LAMA2				NC_000006.11:g.129722399C>T	(Likely) pathogenic	1 lab	06c43dfbc7
2:47639712 MSH2 T>G	2	47639712	47639712	T	G	MSH2	c.792+13T>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47639712T>G	(Likely) benign	1 lab	06c5b32a39
20:10632793 JAG1 G>T	20	10632793	10632793	G	T	JAG1	c.992C>A	NM_000214.2	NP_000205.1:p.(Pro331His)	NC_000020.10:g.10632793G>T	(Likely) benign	1 lab	06c67ceb9a
6:79735662 PHIP G>A	6	79735662	79735662	G	A	PHIP	c.820C>T	NM_017934.5	NP_060404.3:p.(Gln274Ter)	NC_000006.11:g.79735662G>A	(Likely) pathogenic	1 lab	06cd7fcbfd
17:56285332 MKS1 C>G	17	56285332	56285332	C	G	MKS1	c.1196G>C	NM_017777.3	NP_060247.2:p.(Cys399Ser)	NC_000017.10:g.56285332C>G	VUS	1 lab	06ce160d1e
2:167141062 SCN9A G>A	2	167141062	167141062	G	A	SCN9A	c.1875C>T	NM_002977.3	NP_002968.1:p.(Asn625=)	NC_000002.11:g.167141062G>A	(Likely) benign	1 lab	06d7241719
4:77660151 SHROOM3 T>C	4	77660151	77660151	T	C	SHROOM3	c.825T>C	NM_020859.3	NP_065910.3:p.(Pro275=)	NC_000004.11:g.77660151T>C	(Likely) benign	1 lab	06d73ba253
16:75512928 CHST6 G>A	16	75512928	75512928	G	A	CHST6	c.799C>T	NM_021615.5	NP_067628.1:p.(Arg267Cys)	NC_000016.9:g.75512928G>A	VUS	1 lab	06d8a31214
10:72191952 NODAL A>G	10	72191952	72191952	A	G	NODAL	c.*740T>C	NM_018055.4	NP_060525.3:p.?	NC_000010.10:g.72191952A>G	(Likely) benign	1 lab	06d9242733
14:31542174 AP4S1 C>T	14	31542174	31542174	C	T	AP4S1	c.289C>T	NM_007077.4	NP_009008.2:p.(Arg97Ter)	NC_000014.8:g.31542174C>T	(Likely) pathogenic	1 lab	06e0b618e0
X:153296449 MECP2 G>A	X	153296449	153296449	G	A	MECP2	c.830C>T	NM_004992.3	NP_004983.1:p.(Ala277Val)	NC_000023.10:g.153296449G>A	VUS	1 lab	06e1d9d0c3
5:161300178 GABRA1 T>G	5	161300178	161300178	T	G	GABRA1	c.311T>G	NM_000806.5	NP_000797.2:p.(Phe104Cys)	NC_000005.9:g.161300178T>G	VUS	1 lab	06e478e0f4
17:36093811 HNF1B A>G	17	36093811	36093811	A	G	HNF1B	c.548T>C	NM_000458.4	NP_000449.1:p.(Phe183Ser)	NC_000017.10:g.36093811A>G	(Likely) pathogenic	1 lab	06f2593cf7
1:6155501 KCNAB2 T>C	1	6155501	6155501	T	C	KCNAB2	c.851T>C	NM_001199862.1	NP_001186791.1:p.(Ile284Thr)	NC_000001.10:g.6155501T>C	VUS	1 lab	06f3944103
2:26703755 OTOF G>A	2	26703755	26703755	G	A	OTOF	c.1702C>T	NM_194248.2	NP_919224.1:p.(Arg568Trp)	NC_000002.11:g.26703755G>A	VUS	1 lab	06fa288aeb
6:32036422 TNXB G>A	6	32036422	32036422	G	A	TNXB	c.5965C>T	NM_001365276.2	NP_001352205.1:p.(Arg1989Cys)	NC_000006.11:g.32036422G>A	VUS	1 lab	06fb99a619
16:81236325 PKD1L2 A>C	16	81236325	81236325	A	C	PKD1L2	c.923T>G	NM_001076780.1	NP_001070248.1:p.(Val308Gly)	NC_000016.9:g.81236325A>C	(Likely) benign	1 lab	4987d1fb58
1:237550577 RYR2 ACA>TTATG	1	237550577	237550579	ACA	TTATG	RYR2	c.577-4_577-2delinsTTATG	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237550577_237550579delinsTTATG	VUS	1 lab	06fc9ccbd6
7:98547194 TRRAP A>G	7	98547194	98547194	A	G	TRRAP	c.4922A>G	NM_001244580.1	NP_001231509.1:p.(Gln1641Arg)	NC_000007.13:g.98547194A>G	VUS	1 lab	06fcb542ae
15:24820045 PWRN1 A>T	15	24820045	24820045	A	T	PWRN1	n.1025-9A>T	NR_026646.1		NC_000015.9:g.24820045A>T	VUS	1 lab	4a203c1bd8
19:45206778 CEACAM16 C>T	19	45206778	45206778	C	T	CEACAM16	c.197C>T	NM_001039213.4	NP_001034302.2:p.(Ala66Val)	NC_000019.9:g.45206778C>T	VUS	1 lab	0701f60337
2:152531800 NEB C>T	2	152531800	152531800	C	T	NEB	c.3879+1G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152531800C>T	(Likely) pathogenic	1 lab	0704499ece
13:101736134 NALCN C>T	13	101736134	101736134	C	T	NALCN	c.3511G>A	NM_052867.4	NP_443099.1:p.(Asp1171Asn)	NC_000013.10:g.101736134C>T	(Likely) pathogenic	1 lab	07045833ac
13:113760228 F7 G>A	13	113760228	113760228	G	A	F7	c.64+9G>A	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113760228G>A	(Likely) benign	1 lab	070a642fd3
3:41266936 CTNNB1 C>T	3	41266936	41266936	C	T	CTNNB1	c.607C>T	NM_001904.3	NP_001895.1:p.(Gln203Ter)	NC_000003.11:g.41266936C>T	(Likely) pathogenic	1 lab	070c715534
7:5568883 ACTB T>G	7	5568883	5568883	T	G	ACTB				NC_000007.13:g.5568883T>G	(Likely) pathogenic	1 lab	070d4a67c5
1:94486794 ABCA4 A>T	1	94486794	94486794	A	T	ABCA4	c.5018+2T>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94486794A>T	(Likely) pathogenic	1 lab	070dd22f03
X:149764983 MTM1 C>T	X	149764983	149764983	C	T	MTM1	c.85C>T	NM_000252.2	NP_000243.1:p.(Arg29Ter)	NC_000023.10:g.149764983C>T	(Likely) pathogenic	1 lab	07127c8706
16:15818551 MYH11 C>T	16	15818551	15818551	C	T	MYH11	c.4069G>A	NM_002474.3	NP_002465.1:p.(Glu1357Lys)	NC_000016.9:g.15818551C>T	(Likely) benign	1 lab	0713d49a40
19:35521752 SCN1B G>A	19	35521752	35521752	G	A	SCN1B	c.28G>A	NM_001037.5	NP_001028.1:p.(Gly10Ser)	NC_000019.9:g.35521752G>A	(Likely) benign	1 lab	07161e9af2
5:112155057 APC T>A	5	112155057	112155057	T	A	APC	c.1312+16T>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112155057T>A	(Likely) benign	1 lab	07162482d4
9:98270646 PTCH1 T>TGCCGCC	9	98270646	98270669	T	TGCCGCC	PTCH1	c.-9_-4dup	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98270664_98270669dup	(Likely) benign	1 lab	071807f626
13:113771091 F7 T>C	13	113771091	113771091	T	C	F7	c.583T>C	NM_000131.4	NP_000122.1:p.(Cys195Arg)	NC_000013.10:g.113771091T>C	(Likely) pathogenic	1 lab	0719952b4a
11:76867062 MYO7A C>T	11	76867062	76867062	C	T	MYO7A				NC_000011.9:g.76867062C>T	(Likely) pathogenic	1 lab	071adb882a
2:47643505 MSH2 G>C	2	47643505	47643505	G	C	MSH2	c.1013G>C	NM_000251.2	NP_000242.1:p.(Gly338Ala)	NC_000002.11:g.47643505G>C	VUS	1 lab	071f7cced7
1:196646762 CFH A>G	1	196646762	196646762	A	G	CFH	c.584A>G	NM_000186.3	NP_000177.2:p.(Asp195Gly)	NC_000001.10:g.196646762A>G	VUS	1 lab	0721be862a
8:38272358 FGFR1 A>G	8	38272358	38272358	A	G	FGFR1	c.1916T>C	NM_023110.3	NP_075598.2:p.(Ile639Thr)	NC_000008.10:g.38272358A>G	(Likely) pathogenic	1 lab	072210a9e8
10:73559386 CDH23 G>A	10	73559386	73559386	G	A	CDH23	c.7362G>A	NM_022124.5	NP_071407.4:p.(Thr2454=)	NC_000010.10:g.73559386G>A	VUS	1 lab	07233dec38
20:57430259 GNAS C>G	20	57430259	57430259	C	G	GNAS	c.1752C>G	NM_001077490.1	NP_001070958.1:p.(Asp584Glu)	NC_000020.10:g.57430259C>G	(Likely) benign	1 lab	4a5951ec1b
5:112157607 APC G>T	5	112157607	112157607	G	T	APC	c.1327G>T	NM_000038.6	NP_000029.2:p.(Glu443Ter)	NC_000005.9:g.112157607G>T	(Likely) pathogenic	1 lab	0724fd0484
X:56041273 KLF8 TG>T	X	56041273	56041274	TG	T	KLF8	c.-95-4del	NM_001324104.1	NP_001311033.1:p.?	NC_000023.10:g.56041274del	(Likely) benign	1 lab	4a5cd60611
14:23897674 MYH7 C>T	14	23897674	23897674	C	T	MYH7	c.1578+35G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23897674C>T	(Likely) benign	1 lab	0728f3ecf8
3:49569259 DAG1 A>G	3	49569259	49569259	A	G	DAG1	c.1315A>G	NM_004393.5	NP_004384.4:p.(Thr439Ala)	NC_000003.11:g.49569259A>G	VUS	1 lab	072a26d799
1:78390892 NEXN C>T	1	78390892	78390892	C	T	NEXN	c.467C>T	NM_144573.3	NP_653174.3:p.(Thr156Met)	NC_000001.10:g.78390892C>T	(Likely) benign	1 lab	072b23c72e
5:112175324 APC G>T	5	112175324	112175324	G	T	APC	c.4033G>T	NM_000038.5	NP_000029.2:p.(Glu1345Ter)	NC_000005.9:g.112175324G>T	(Likely) pathogenic	1 lab	072d65eeda
21:33065670 SCAF4 G>A	21	33065670	33065670	G	A	SCAF4	c.1450C>T	NM_020706.2	NP_065757.1:p.(Arg484Ter)	NC_000021.8:g.33065670G>A	(Likely) pathogenic	1 lab	072d9b9f18
1:155161695 MUC1 C>G	1	155161695	155161695	C	G	MUC1	c.186+279G>C	NM_001018016.2	NP_001018016.1:p.?	NC_000001.10:g.155161695C>G	(Likely) benign	1 lab	4adf39e42b
16:1570217 IFT140 G>A	16	1570217	1570217	G	A	IFT140	c.3788C>T	NM_014714.3	NP_055529.2:p.(Pro1263Leu)	NC_000016.9:g.1570217G>A	VUS	1 lab	0730c40bc0
1:241680586 FH C>A	1	241680586	241680586	C	A	FH	c.163G>T	NM_000143.3	NP_000134.2:p.(Asp55Tyr)	NC_000001.10:g.241680586C>A	VUS	1 lab	0730cbcccf
22:38161839 TRIOBP G>C	22	38161839	38161839	G	C	TRIOBP				NC_000022.10:g.38161839G>C	(Likely) benign	1 lab	bff27c03de
4:166924688 TLL1 C>T	4	166924688	166924688	C	T	TLL1	c.778C>T	NM_012464.4	NP_036596.3:p.(His260Tyr)	NC_000004.11:g.166924688C>T	VUS	1 lab	0734495462
17:7411700 POLR2A T>C	17	7411700	7411700	T	C	POLR2A	c.3371T>C	NM_000937.5	NP_000928.1:p.(Leu1124Pro)	NC_000017.10:g.7411700T>C	VUS	1 lab	07378644da
12:6127701 VWF A>G	12	6127701	6127701	A	G	VWF	c.4883T>C	NM_000552.3	NP_000543.2:p.(Ile1628Thr)	NC_000012.11:g.6127701A>G	(Likely) pathogenic	1 lab	073a4518e8
1:241672058 FH T>C	1	241672058	241672058	T	C	FH	c.583A>G	NM_000143.3	NP_000134.2:p.(Met195Val)	NC_000001.10:g.241672058T>C	VUS	1 lab	073bfa885e
11:2593416 KCNQ1 A>G	11	2593416	2593416	A	G	KCNQ1	c.780+77A>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2593416A>G	(Likely) benign	1 lab	073ea22c5e
1:236925757 ACTN2 C>CT	1	236925757	236925758	C	CT	ACTN2	c.2527-4_2527-3insT	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236925757_236925758insT	(Likely) benign	1 lab	073ecfca23
7:6017291 PMS2 G>A	7	6017291	6017291	G	A	PMS2	c.2373C>T	NM_000535.7	NP_000526.2:p.(Ser791=)	NC_000007.13:g.6017291G>A	(Likely) benign	1 lab	07444e892e
9:138662231 KCNT1 C>T	9	138662231	138662231	C	T	KCNT1	c.1707C>T	NM_020822.3	NP_065873.2:p.(Ser569=)	NC_000009.11:g.138662231C>T	VUS	1 lab	07495a417e
X:107683340 COL4A5 C>T	X	107683340	107683340	C	T	COL4A5	c.-16C>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107683340C>T	VUS	1 lab	074de5cff8
4:147215075 MISSING AACTT>A	4	147215075	147215084	AACTT	A	MISSING				NC_000004.11:g.147215081_147215084del	(Likely) pathogenic	1 lab	074de7f3cb
1:241676979 FH C>G	1	241676979	241676979	C	G	FH	c.302G>C	NM_000143.4	NP_000134.2:p.(Arg101Pro)	NC_000001.10:g.241676979C>G	(Likely) pathogenic	1 lab	0753d1e846
2:122288488 RNU4ATAC C>G	2	122288488	122288488	C	G	RNU4ATAC	n.33C>G	NR_023343.1		NC_000002.11:g.122288488C>G	VUS	1 lab	0cc35e6031
1:10035730 NMNAT1 C>T	1	10035730	10035730	C	T	NMNAT1	c.196C>T	NM_022787.3	NP_073624.2:p.(Arg66Trp)	NC_000001.10:g.10035730C>T	(Likely) pathogenic	1 lab	07569c78d2
6:10404808 TFAP2A C>T	6	10404808	10404808	C	T	TFAP2A	c.697G>A	NM_003220.2	NP_003211.1:p.(Glu233Lys)	NC_000006.11:g.10404808C>T	(Likely) pathogenic	1 lab	0757047a2c
11:119215046 MFRP C>T	11	119215046	119215046	C	T	MFRP	c.954G>A	NM_031433.3	NP_113621.1:p.(Leu318=)	NC_000011.9:g.119215046C>T	(Likely) benign	1 lab	07589f2b91
17:36483007 GPR179 A>G	17	36483007	36483007	A	G	GPR179	c.6445T>C	NM_001004334.3	NP_001004334.3:p.(Ser2149Pro)	NC_000017.10:g.36483007A>G	VUS	1 lab	075c58783e
12:6219560 VWF T>A	12	6219560	6219560	T	A	VWF	c.512A>T	NM_000552.3	NP_000543.2:p.(Asp171Val)	NC_000012.11:g.6219560T>A	(Likely) pathogenic	1 lab	075ceb27ad
20:57430322 GNAS C>T	20	57430322	57430322	C	T	GNAS	c.1815C>T	NM_001077490.1	NP_001070958.1:p.(Ser605=)	NC_000020.10:g.57430322C>T	VUS	1 lab	4b3e06ffad
1:156105827 LMNA G>A	1	156105827	156105827	G	A	LMNA	c.1072G>A	NM_170707.3	NP_733821.1:p.(Glu358Lys)	NC_000001.10:g.156105827G>A	(Likely) pathogenic	1 lab	0762129edb
22:36684927 MYH9 G>A	22	36684927	36684927	G	A	MYH9	c.4616C>T	NM_002473.4	NP_002464.1:p.(Thr1539Met)	NC_000022.10:g.36684927G>A	VUS	1 lab	0763f0c7a2
9:139396209 NOTCH1 G>A	9	139396209	139396209	G	A	NOTCH1	c.5629C>T	NM_017617.3	NP_060087.3:p.(Arg1877Cys)	NC_000009.11:g.139396209G>A	VUS	1 lab	0764aa1c4b
1:237955703 RYR2 G>A	1	237955703	237955703	G	A	RYR2	c.13782+80G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237955703G>A	(Likely) benign	1 lab	0766a91c7e
12:9020901 A2ML1 A>G	12	9020901	9020901	A	G	A2ML1	c.4009A>G	NM_144670.4	NP_653271.2:p.(Arg1337Gly)	NC_000012.11:g.9020901A>G	(Likely) benign	1 lab	0766c16841
2:166168532 SCN2A T>G	2	166168532	166168532	T	G	SCN2A	c.971-3T>G	NM_001040142.1	NP_001035232.1:p.?	NC_000002.11:g.166168532T>G	(Likely) pathogenic	1 lab	076816406d
19:33353388 SLC7A9 C>T	19	33353388	33353388	C	T	SLC7A9				NC_000019.9:g.33353388C>T	(Likely) pathogenic	1 lab	0d5c31d4de
9:139403554 NOTCH1 T>C	9	139403554	139403554	T	C	NOTCH1	c.2970-31A>G	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139403554T>C	(Likely) benign	1 lab	07698fa149
9:35555638 RUSC2 C>T	9	35555638	35555638	C	T	RUSC2	c.2596C>T	NM_014806.3	NP_055621.1:p.(Arg866Ter)	NC_000009.11:g.35555638C>T	VUS	1 lab	0769ed843d
2:25467482 DNMT3A C>T	2	25467482	25467482	C	T	DNMT3A	c.1594G>A	NM_022552.5	NP_072046.2:p.(Gly532Ser)	NC_000002.11:g.25467482C>T	VUS	1 lab	07736129b1
14:23876326 MYH6 T>G	14	23876326	23876326	T	G	MYH6	c.107A>C	NM_002471.3	NP_002462.2:p.(Glu36Ala)	NC_000014.8:g.23876326T>G	(Likely) benign	1 lab	07742fab39
3:120369690 HGD G>A	3	120369690	120369690	G	A	HGD	c.365C>T	NM_000187.3	NP_000178.2:p.(Ala122Val)	NC_000003.11:g.120369690G>A	VUS	1 lab	07746ffb03
1:78383890 NEXN C>T	1	78383890	78383890	C	T	NEXN	c.379C>T	NM_144573.3	NP_653174.3:p.(Arg127Cys)	NC_000001.10:g.78383890C>T	VUS	1 lab	0778fd8aa5
1:156104586 LMNA A>C	1	156104586	156104586	A	C	LMNA	c.640-10A>C	NM_170708.3	NP_733822.1:p.?	NC_000001.10:g.156104586A>C	(Likely) benign	1 lab	077bf7925d
11:118461169 ARCN1 G>A	11	118461169	118461169	G	A	ARCN1	c.932G>A	NM_001655.5	NP_001646.2:p.(Gly311Asp)	NC_000011.9:g.118461169G>A	VUS	1 lab	077c3051b8
7:117149151 CFTR T>G	7	117149151	117149151	T	G	CFTR	c.228T>G	NM_000492.4	NP_000483.3:p.(Cys76Trp)	NC_000007.13:g.117149151T>G	VUS	1 lab	077dd55687
14:100377884 EML1 G>A	14	100377884	100377884	G	A	EML1	c.1522G>A	NM_001008707.1	NP_001008707.1:p.(Gly508Arg)	NC_000014.8:g.100377884G>A	(Likely) benign	1 lab	077e47aab2
12:48380166 COL2A1 G>A	12	48380166	48380166	G	A	COL2A1	c.1480C>T	NM_001844.4	NP_001835.3:p.(Arg494Cys)	NC_000012.11:g.48380166G>A	VUS	1 lab	077e555364
4:114274422 ANK2 G>C	4	114274422	114274422	G	C	ANK2	c.4648G>C	NM_001148.5	NP_001139.3:p.(Glu1550Gln)	NC_000004.11:g.114274422G>C	VUS	1 lab	077e64c35a
13:111926299 ARHGEF7 G>GGT	13	111926299	111926301	G	GGT	ARHGEF7	c.1212+1_1212+2dup	NM_001320852.1	NP_001307781.1:p.?	NC_000013.10:g.111926300_111926301dup	VUS	1 lab	077f03faa7
2:179577471 TTN C>T	2	179577471	179577471	C	T	TTN	c.27281G>A	NM_001267550.2	NP_001254479.2:p.(Ser9094Asn)	NC_000002.11:g.179577471C>T	(Likely) benign	1 lab	0783223554
14:23891265 MYH7 A>G	14	23891265	23891265	A	G	MYH7	c.3245+124T>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23891265A>G	(Likely) benign	1 lab	0784dc890d
11:3846355 PGAP2 G>C	11	3846355	3846355	G	C	PGAP2				NC_000011.9:g.3846355G>C	VUS	1 lab	0785f13306
16:89347819 ANKRD11 A>AT	16	89347819	89347820	A	AT	ANKRD11	c.5130dup	NM_013275.6	NP_037407.4:p.(Ser1711IlefsTer21)	NC_000016.9:g.89347820dup	(Likely) pathogenic	1 lab	078a1e275b
7:81599203 CACNA2D1 A>G	7	81599203	81599203	A	G	CACNA2D1	c.2302T>C	NM_000722.2	NP_000713.2:p.(Phe768Leu)	NC_000007.13:g.81599203A>G	(Likely) benign	1 lab	078bfea9d0
1:46663493 POMGNT1 T>A	1	46663493	46663493	T	A	POMGNT1	c.1A>T	NM_001243766.1	NP_001230695.1:p.(Met1?)	NC_000001.10:g.46663493T>A	(Likely) pathogenic	1 lab	078d974624
1:12382602 VPS13D C>T	1	12382602	12382602	C	T	VPS13D	c.7714C>T	NM_015378.3	NP_056193.2:p.(Gln2572Ter)	NC_000001.10:g.12382602C>T	VUS	1 lab	078ef02da6
7:121691969 PTPRZ1 CTA>C	7	121691969	121691971	CTA	C	PTPRZ1	c.6229_6230del	NM_002851.2	NP_002842.2:p.(Tyr2077HisfsTer14)	NC_000007.13:g.121691970_121691971del	(Likely) pathogenic	1 lab	07913829cb
14:69006883 RAD51B C>CTT	14	69006883	69006908	C	CTT	RAD51B	c.1037-62473_1037-62472dup	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69006907_69006908dup	(Likely) benign	1 lab	4af9085a3b
X:41193155 DDX3X G>A	X	41193155	41193155	G	A	DDX3X	c.-351G>A	NM_001193416.1	NP_001180345.1:p.?	NC_000023.10:g.41193155G>A	VUS	1 lab	4b33bd775c
5:79951032 MSH3 A>G	5	79951032	79951032	A	G	MSH3	c.237+249A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79951032A>G	(Likely) benign	1 lab	079b140953
19:6702148 C3 C>T	19	6702148	6702148	C	T	C3	c.2430G>A	NM_000064.3	NP_000055.2:p.(Ser810=)	NC_000019.9:g.6702148C>T	(Likely) benign	1 lab	079b3cea8c
12:58024802 B4GALNT1 C>T	12	58024802	58024802	C	T	B4GALNT1	c.451G>A	NM_001478.4	NP_001469.1:p.(Gly151Ser)	NC_000012.11:g.58024802C>T	(Likely) pathogenic	1 lab	079beb95fb
X:10104754 WWC3 C>T	X	10104754	10104754	C	T	WWC3	c.2845C>T	NM_015691.3	NP_056506.2:p.(Arg949Cys)	NC_000023.10:g.10104754C>T	(Likely) benign	1 lab	4b402ef2ed
16:90000153 TUBB3 A>G	16	90000153	90000153	A	G	TUBB3	c.277+167A>G	NM_006086.4	NP_006077.2:p.?	NC_000016.9:g.90000153A>G	(Likely) benign	1 lab	079e5d2273
7:149512267 SSPOP C>T	7	149512267	149512267	C	T	SSPOP	n.10682C>T	NR_163594.1		NC_000007.13:g.149512267C>T	VUS	1 lab	4b67f2b3fc
5:138260403 CTNNA1 C>A	5	138260403	138260403	C	A	CTNNA1	c.1747+4C>A	NM_001903.3	NP_001894.2:p.?	NC_000005.9:g.138260403C>A	(Likely) benign	1 lab	079f6c04de
X:48815014 OTUD5 T>TGGC	X	48815014	48815021	T	TGGC	OTUD5	c.-58+477_-58+479dup	NM_001136159.1	NP_001129631.1:p.?	NC_000023.10:g.48815019_48815021dup	VUS	1 lab	4b99308083
11:89018071 TYR T>G	11	89018071	89018071	T	G	TYR	c.1315T>G	NM_000372.4	NP_000363.1:p.(Phe439Val)	NC_000011.9:g.89018071T>G	VUS	1 lab	07a2e97357
2:47702193 MSH2 G>GT	2	47702193	47702194	G	GT	MSH2	c.1789_1790insT	NM_000251.3	NP_000242.1:p.(Asp597ValfsTer47)	NC_000002.11:g.47702193_47702194insT	(Likely) pathogenic	1 lab	07a6412bee
1:197029592 F13B C>T	1	197029592	197029592	C	T	F13B	c.709G>A	NM_001994.2	NP_001985.2:p.(Val237Ile)	NC_000001.10:g.197029592C>T	VUS	1 lab	07a6f23560
19:11553281 PRKCSH T>C	19	11553281	11553281	T	C	PRKCSH	c.549T>C	NM_002743.3	NP_002734.2:p.(Ala183=)	NC_000019.9:g.11553281T>C	(Likely) benign	1 lab	07a855ee55
X:49103246 MISSING C>T	X	49103246	49103246	C	T	MISSING				NC_000023.10:g.49103246C>T	(Likely) benign	1 lab	07a88cf58a
11:67864512 CHKA G>A	11	67864512	67864512	G	A	CHKA	c.436C>T	NM_001277.3	NP_001268.2:p.(Arg146Trp)	NC_000011.9:g.67864512G>A	(Likely) pathogenic	1 lab	07aa6a2132
15:93522434 CHD2 A>G	15	93522434	93522434	A	G	CHD2	c.2797A>G	NM_001271.3	NP_001262.3:p.(Met933Val)	NC_000015.9:g.93522434A>G	VUS	1 lab	07ae00061f
5:180048161 FLT4 C>T	5	180048161	180048161	C	T	FLT4	c.2112G>A	NM_182925.4	NP_891555.2:p.(Ala704=)	NC_000005.9:g.180048161C>T	(Likely) benign	1 lab	07ae23d75e
2:179600434 TTN T>G	2	179600434	179600434	T	G	TTN	c.14739A>C	NM_001267550.2	NP_001254479.2:p.(Glu4913Asp)	NC_000002.11:g.179600434T>G	VUS	1 lab	07b01ba7fb
12:66704225 MISSING A>G	12	66704225	66704225	A	G	MISSING				NC_000012.11:g.66704225A>G	(Likely) benign	1 lab	07b20f3bb3
5:112154911 APC G>T	5	112154911	112154911	G	T	APC	c.1182G>T	NM_000038.6	NP_000029.2:p.(Gln394His)	NC_000005.9:g.112154911G>T	(Likely) benign	1 lab	07b2226ea9
11:2909505 SLC67A1-AS T>TG	11	2909505	2909512	T	TG	SLC67A1-AS	n.998dup	NR_169304.1		NC_000011.9:g.2909512dup	(Likely) benign	1 lab	4baf8f058f
1:17084489 MST1L T>G	1	17084489	17084489	T	G	MST1L	c.1609A>C	NM_001271733.1	NP_001258662.1:p.(Lys537Gln)	NC_000001.10:g.17084489T>G	(Likely) benign	1 lab	4bc2f2a84a
X:154437231 VBP1 G>A	X	154437231	154437231	G	A	VBP1	c.50G>A	NM_001303544.1	NP_001290473.1:p.(Ser17Asn)	NC_000023.10:g.154437231G>A	VUS	1 lab	4bf41a2371
1:229568411 ACTA1 C>T	1	229568411	229568411	C	T	ACTA1	c.346G>A	NM_001100.4	NP_001091.1:p.(Ala116Thr)	NC_000001.10:g.229568411C>T	(Likely) pathogenic	1 lab	07ba8d3d17
2:39285807 SOS1 G>A	2	39285807	39285807	G	A	SOS1	c.345+7C>T	NM_005633.3	NP_005624.2:p.?	NC_000002.11:g.39285807G>A	(Likely) benign	1 lab	07bef90f61
3:93619674 PROS1 T>C	3	93619674	93619674	T	C	PROS1	c.701A>G	NM_000313.4	NP_000304.2:p.(Tyr234Cys)	NC_000003.11:g.93619674T>C	(Likely) pathogenic	1 lab	07bff8dbf9
13:32907509 BRCA2 G>A	13	32907509	32907509	G	A	BRCA2	c.1894G>A	NM_000059.4	NP_000050.3:p.(Ala632Thr)	NC_000013.10:g.32907509G>A	(Likely) benign	1 lab	07c096fd4e
1:155162050 MUC1 C>A	1	155162050	155162050	C	A	MUC1	c.110G>T	NM_001018016.2	NP_001018016.1:p.(Ser37Ile)	NC_000001.10:g.155162050C>A	VUS	1 lab	4c3049a846
19:5893122 NDUFA11 C>T	19	5893122	5893122	C	T	NDUFA11	c.493G>A	NM_001193375.1	NP_001180304.1:p.(Ala165Thr)	NC_000019.9:g.5893122C>T	VUS	1 lab	4cfd5c3954
5:251469 SDHA G>A	5	251469	251469	G	A	SDHA	c.1680G>A	NM_004168.2	NP_004159.2:p.(Thr560=)	NC_000005.9:g.251469G>A	(Likely) benign	1 lab	500fd57b6a
3:122002611 CASR G>A	3	122002611	122002611	G	A	CASR	c.1810G>A	NM_000388.4	NP_000379.3:p.(Glu604Lys)	NC_000003.11:g.122002611G>A	(Likely) pathogenic	1 lab	07c4b1859a
2:179424695 TTN C>T	2	179424695	179424695	C	T	TTN	c.86164G>A	NM_001267550.2	NP_001254479.2:p.(Val28722Ile)	NC_000002.11:g.179424695C>T	(Likely) benign	1 lab	07c6d16c7c
6:10404780 TFAP2A T>C	6	10404780	10404780	T	C	TFAP2A	c.725A>G	NM_003220.2	NP_003211.1:p.(Glu242Gly)	NC_000006.11:g.10404780T>C	(Likely) pathogenic	1 lab	07c7df7245
13:32899245 BRCA2 C>A	13	32899245	32899245	C	A	BRCA2	c.349C>A	NM_000059.3	NP_000050.2:p.(Leu117Ile)	NC_000013.10:g.32899245C>A	(Likely) benign	1 lab	07cc4b4006
3:119134303 ARHGAP31 G>A	3	119134303	119134303	G	A	ARHGAP31	c.3527G>A	NM_020754.4	NP_065805.2:p.(Arg1176His)	NC_000003.11:g.119134303G>A	VUS	1 lab	07cd69b4c7
2:220283321 DES C>T	2	220283321	220283321	C	T	DES	c.137C>T	NM_001927.3	NP_001918.3:p.(Ser46Phe)	NC_000002.11:g.220283321C>T	VUS	1 lab	07ce1a3a1e
7:128495258 FLNC T>G	7	128495258	128495258	T	G	FLNC	c.7141T>G	NM_001458.4	NP_001449.3:p.(Tyr2381Asp)	NC_000007.13:g.128495258T>G	VUS	1 lab	07ce94ee18
17:59763418 BRIP1 G>A	17	59763418	59763418	G	A	BRIP1	c.2684C>T	NM_032043.2	NP_114432.2:p.(Ser895Phe)	NC_000017.10:g.59763418G>A	VUS	1 lab	07cfdb0b0a
7:149474932 SSPOP A>T	7	149474932	149474932	A	T	SSPOP	n.731A>T	NR_163594.1		NC_000007.13:g.149474932A>T	VUS	1 lab	4cfec17a8d
7:119915157 KCND2 T>C	7	119915157	119915157	T	C	KCND2	c.471T>C	NM_012281.2	NP_036413.1:p.(Ala157=)	NC_000007.13:g.119915157T>C	(Likely) benign	1 lab	07d1eb3861
2:179623759 TTN T>C	2	179623759	179623759	T	C	TTN	c.10255A>G	NM_001267550.2	NP_001254479.2:p.(Ser3419Gly)	NC_000002.11:g.179623759T>C	VUS	1 lab	07d693d727
2:131099787 VMA22 C>T	2	131099787	131099787	C	T	VMA22	c.16G>A	NM_001321118.1	NP_001308047.1:p.(Asp6Asn)	NC_000002.11:g.131099787C>T	VUS	1 lab	4e6fdf0b4f
17:78188107 SGSH G>A	17	78188107	78188107	G	A	SGSH	c.527C>T	NM_000199.4	NP_000190.1:p.(Ala176Val)	NC_000017.10:g.78188107G>A	(Likely) pathogenic	1 lab	07dd15249b
10:88672029 BMPR1A G>A	10	88672029	88672029	G	A	BMPR1A	c.563G>A	NM_004329.2	NP_004320.2:p.(Arg188His)	NC_000010.10:g.88672029G>A	(Likely) benign	1 lab	07df136873
2:32289023 SPAST G>T	2	32289023	32289023	G	T	SPAST	c.123G>T	NM_014946.3	NP_055761.2:p.(Pro41=)	NC_000002.11:g.32289023G>T	(Likely) benign	1 lab	07df9d5983
17:39915069 JUP C>T	17	39915069	39915069	C	T	JUP	c.1551G>A	NM_002230.2	NP_002221.1:p.(Pro517=)	NC_000017.10:g.39915069C>T	(Likely) benign	1 lab	07e1a32259
19:7600008 PNPLA6 T>C	19	7600008	7600008	T	C	PNPLA6	c.-43+220T>C	NM_001166111.1	NP_001159583.1:p.?	NC_000019.9:g.7600008T>C	(Likely) benign	1 lab	4e93179abc
10:89690847 PTEN G>A	10	89690847	89690847	G	A	PTEN	c.253+1G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89690847G>A	(Likely) pathogenic	1 lab	07e44738c5
11:76913375 MYO7A C>T	11	76913375	76913375	C	T	MYO7A	c.5074C>T	NM_000260.3	NP_000251.3:p.(Gln1692Ter)	NC_000011.9:g.76913375C>T	(Likely) pathogenic	1 lab	0830ac72c7
2:179592065 TTN G>T	2	179592065	179592065	G	T	TTN	c.20027C>A	NM_001267550.2	NP_001254479.2:p.(Ser6676Tyr)	NC_000002.11:g.179592065G>T	(Likely) benign	1 lab	07e95ffd93
5:90006848 ADGRV1 C>T	5	90006848	90006848	C	T	ADGRV1	c.8875C>T	NM_032119.3	NP_115495.3:p.(Arg2959Ter)	NC_000005.9:g.90006848C>T	(Likely) pathogenic	1 lab	07edb395e9
X:49853415 CLCN5 G>C	X	49853415	49853415	G	C	CLCN5	c.1408G>C	NM_000084.2	NP_000075.1:p.(Gly470Arg)	NC_000023.10:g.49853415G>C	VUS	1 lab	07ee859796
11:2920795 SLC67A1-AS G>A	11	2920795	2920795	G	A	SLC67A1-AS	n.469C>T	NR_169304.1		NC_000011.9:g.2920795G>A	VUS	1 lab	4ef2517f9e
3:37089019 MLH1 C>T	3	37089019	37089019	C	T	MLH1	c.1741C>T	NM_000249.3	NP_000240.1:p.(Pro581Ser)	NC_000003.11:g.37089019C>T	(Likely) benign	1 lab	07f0ce7059
11:2170367 IGF2 T>G	11	2170367	2170367	T	G	IGF2	c.-260A>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170367T>G	(Likely) benign	1 lab	4f8e9102d7
12:6120958 VWF G>A	12	6120958	6120958	G	A	VWF	c.5667C>T	NM_000552.3	NP_000543.2:p.(Pro1889=)	NC_000012.11:g.6120958G>A	(Likely) benign	1 lab	07f49c9c32
2:86481939 REEP1 T>C	2	86481939	86481939	T	C	REEP1	c.183-2A>G	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86481939T>C	(Likely) pathogenic	1 lab	07f734cf87
7:81765994 CACNA2D1 T>TA	7	81765994	81765995	T	TA	CACNA2D1	c.355-3dup	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81765995dup	(Likely) benign	1 lab	07f94c41da
X:153421876 OPN1LW C>T	X	153421876	153421876	C	T	OPN1LW	c.852C>T	NM_020061.5	NP_064445.2:p.(Tyr284=)	NC_000023.10:g.153421876C>T	(Likely) benign	1 lab	07fc16c564
2:149247190 MBD5 G>A	2	149247190	149247190	G	A	MBD5	c.3290G>A	NM_018328.4	NP_060798.2:p.(Ser1097Asn)	NC_000002.11:g.149247190G>A	VUS	1 lab	07fe2f426e
7:47874579 PKD1L1 G>C	7	47874579	47874579	G	C	PKD1L1	c.6113C>G	NM_138295.4	NP_612152.1:p.(Thr2038Ser)	NC_000007.13:g.47874579G>C	(Likely) benign	1 lab	07fe34dbc2
1:161326643 SDHC G>A	1	161326643	161326643	G	A	SDHC	c.405+13G>A	NM_003001.3	NP_002992.1:p.?	NC_000001.10:g.161326643G>A	(Likely) benign	1 lab	0800c0fdb5
1:228407285 OBSCN C>T	1	228407285	228407285	C	T	OBSCN	c.2914C>T	NM_001271223.2	NP_001258152.2:p.(Arg972Cys)	NC_000001.10:g.228407285C>T	(Likely) benign	1 lab	080135d150
2:29293446 PCARE A>G	2	29293446	29293446	A	G	PCARE				NC_000002.11:g.29293446A>G	(Likely) benign	1 lab	08032b3f59
10:120353808 PRLHR G>A	10	120353808	120353808	G	A	PRLHR	c.949C>T	NM_004248.2	NP_004239.1:p.(Gln317Ter)	NC_000010.10:g.120353808G>A	VUS	1 lab	0804cad3c3
X:48375638 PORCN G>T	X	48375638	48375638	G	T	PORCN	c.1241G>T	NM_203475.2	NP_982301.1:p.(Gly414Val)	NC_000023.10:g.48375638G>T	(Likely) pathogenic	1 lab	080776666f
7:128495331 FLNC C>T	7	128495331	128495331	C	T	FLNC	c.7214C>T	NM_001458.5	NP_001449.3:p.(Ser2405Leu)	NC_000007.13:g.128495331C>T	VUS	1 lab	0807bb2aa4
X:47978909 SSX6P A>G	X	47978909	47978909	A	G	SSX6P	n.539-7A>G	NR_028366.1		NC_000023.10:g.47978909A>G	VUS	1 lab	501b8dfb0a
12:81102758 MYF6 C>A	12	81102758	81102758	C	A	MYF6	c.*19C>A	NM_002469.3	NP_002460.1:p.?	NC_000012.11:g.81102758C>A	(Likely) benign	1 lab	0808dc6de4
X:107819151 COL4A5 TC>T	X	107819151	107819154	TC	T	COL4A5	c.561del	NM_033380.2	NP_203699.1:p.(Thr188LeufsTer15)	NC_000023.10:g.107819154del	(Likely) pathogenic	1 lab	080a5ed4aa
7:87037381 ABCB4 C>T	7	87037381	87037381	C	T	ABCB4	c.3251G>A	NM_018849.2	NP_061337.1:p.(Arg1084Gln)	NC_000007.13:g.87037381C>T	VUS	1 lab	080ee19e40
14:24540248 CPNE6 G>A	14	24540248	24540248	G	A	CPNE6	c.46+11G>A	NM_001280558.1	NP_001267487.1:p.?	NC_000014.8:g.24540248G>A	(Likely) benign	1 lab	5131865f73
16:88712543 CYBA G>T	16	88712543	88712543	G	T	CYBA	c.350C>A	NM_000101.3	NP_000092.2:p.(Ala117Glu)	NC_000016.9:g.88712543G>T	(Likely) pathogenic	1 lab	08108b3b00
X:153418516 OPN1LW G>T	X	153418516	153418516	G	T	OPN1LW	c.513G>T	NM_020061.6	NP_064445.2:p.(Val171=)	NC_000023.10:g.153418516G>T	(Likely) pathogenic	1 lab	08129613b3
20:3193818 ITPA G>T	20	3193818	3193818	G	T	ITPA	c.70G>T	NM_033453.3	NP_258412.1:p.(Val24Phe)	NC_000020.10:g.3193818G>T	(Likely) benign	1 lab	08136d6521
5:79950248 DHFR C>T	5	79950248	79950248	C	T	DHFR	c.61G>A	NM_000791.3	NP_000782.1:p.(Gly21Arg)	NC_000005.9:g.79950248C>T	(Likely) pathogenic	1 lab	0815baa77c
13:115090806 CHAMP1 C>T	13	115090806	115090806	C	T	CHAMP1				NC_000013.10:g.115090806C>T	(Likely) pathogenic	1 lab	081fbdb97b
7:140426170 BRAF G>A	7	140426170	140426170	G	A	BRAF	c.*124C>T	NM_001354609.1	NP_001341538.1:p.?	NC_000007.13:g.140426170G>A	(Likely) benign	1 lab	51ce94455d
16:79633200 MAF G>C	16	79633200	79633200	G	C	MAF	c.600C>G	NM_005360.4	NP_005351.2:p.(Pro200=)	NC_000016.9:g.79633200G>C	(Likely) benign	1 lab	082438a1f5
X:37061509 FTHL18P C>T	X	37061509	37061509	C	T	FTHL18P	c.253G>A	NM_001271682.1	NP_001258611.1:p.(Ala85Thr)	NC_000023.10:g.37061509C>T	VUS	1 lab	5208213cc0
20:58152637 PHACTR3 G>A	20	58152637	58152637	G	A	PHACTR3	c.74G>A	NM_001199505.1	NP_001186434.1:p.(Arg25Gln)	NC_000020.10:g.58152637G>A	(Likely) benign	1 lab	529f493229
X:102962405 GLRA4 C>T	X	102962405	102962405	C	T	GLRA4	n.1413G>A	NR_164162.1		NC_000023.10:g.102962405C>T	(Likely) benign	1 lab	533d0a2ae2
2:61413589 AHSA2P TAAG>T	2	61413589	61413596	TAAG	T	AHSA2P	n.2060_2062del	NR_152210.1		NC_000002.11:g.61413594_61413596del	(Likely) benign	1 lab	5381797ef5
4:16008209 PROM1 G>A	4	16008209	16008209	G	A	PROM1	c.1406C>T	NM_006017.2	NP_006008.1:p.(Pro469Leu)	NC_000004.11:g.16008209G>A	VUS	1 lab	083d87cbd6
7:99704407 TAF6 C>T	7	99704407	99704407	C	T	TAF6				NC_000007.13:g.99704407C>T	(Likely) pathogenic	1 lab	083e83965b
12:6127624 VWF A>T	12	6127624	6127624	A	T	VWF	c.4960T>A	NM_000552.3	NP_000543.2:p.(Phe1654Ile)	NC_000012.11:g.6127624A>T	VUS	1 lab	084039b844
3:48618350 COL7A1 C>G	3	48618350	48618350	C	G	COL7A1	c.4945G>C	NM_000094.3	NP_000085.1:p.(Gly1649Arg)	NC_000003.11:g.48618350C>G	(Likely) pathogenic	1 lab	0840f3943a
16:47621573 PHKB G>C	16	47621573	47621573	G	C	PHKB	c.775-6G>C	NM_000293.2	NP_000284.1:p.?	NC_000016.9:g.47621573G>C	(Likely) benign	1 lab	0842c7b346
3:50679137 MAPKAPK3 G>T	3	50679137	50679137	G	T	MAPKAPK3	c.360-1G>T	NM_001243926.2	NP_001230855.1:p.?	NC_000003.11:g.50679137G>T	VUS	1 lab	084fba8e29
12:56088307 ITGA7 C>T	12	56088307	56088307	C	T	ITGA7	c.2278-1G>A	NM_002206.2	NP_002197.2:p.?	NC_000012.11:g.56088307C>T	(Likely) pathogenic	1 lab	085004774d
2:233394790 CHRND T>A	2	233394790	233394790	T	A	CHRND	c.761T>A	NM_000751.2	NP_000742.1:p.(Leu254Gln)	NC_000002.11:g.233394790T>A	VUS	1 lab	0852ca5663
17:70118888 SOX9 T>C	17	70118888	70118888	T	C	SOX9	c.460T>C	NM_000346.3	NP_000337.1:p.(Phe154Leu)	NC_000017.10:g.70118888T>C	(Likely) pathogenic	1 lab	0855670d57
1:151739217 OAZ3 G>A	1	151739217	151739217	G	A	OAZ3	c.33-422G>A	NM_001134939.1	NP_001128411.1:p.?	NC_000001.10:g.151739217G>A	VUS	1 lab	53977a2d8d
11:103075696 DYNC2H1 A>C	11	103075696	103075696	A	C	DYNC2H1	c.8454+3A>C	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103075696A>C	VUS	1 lab	0857e9dcc4
12:111895062 ATXN2 G>A	12	111895062	111895062	G	A	ATXN2	c.3472C>T	NM_002973.3	NP_002964.3:p.(Gln1158Ter)	NC_000012.11:g.111895062G>A	VUS	1 lab	08581df2cf
1:228509445 OBSCN G>A	1	228509445	228509445	G	A	OBSCN	c.17774G>A	NM_001271223.2	NP_001258152.2:p.(Cys5925Tyr)	NC_000001.10:g.228509445G>A	(Likely) benign	1 lab	085ac8f204
3:169482618 TERC G>A	3	169482618	169482618	G	A	TERC	n.231C>T	NR_001566.1		NC_000003.11:g.169482618G>A	VUS	1 lab	085cf1b129
11:47360232 MYBPC3 T>G	11	47360232	47360232	T	G	MYBPC3	c.2149-2A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360232T>G	VUS	1 lab	085d596e31
X:12728575 FRMPD4 G>A	X	12728575	12728575	G	A	FRMPD4				NC_000023.10:g.12728575G>A	VUS	1 lab	6b92014b79
1:196714965 CFH G>C	1	196714965	196714965	G	C	CFH	c.3329G>C	NM_000186.4	NP_000177.2:p.(Gly1110Ala)	NC_000001.10:g.196714965G>C	VUS	1 lab	085ef5228b
1:17085375 MST1L T>C	1	17085375	17085375	T	C	MST1L	c.1316A>G	NM_001271733.1	NP_001258662.1:p.(Asp439Gly)	NC_000001.10:g.17085375T>C	VUS	1 lab	53cb08744e
2:74808893 M1AP C>CA	2	74808893	74808894	C	CA	M1AP	c.676dup	NM_001321739.2	NP_001308668.1:p.(Trp226LeufsTer4)	NC_000002.11:g.74808894dup	(Likely) pathogenic	1 lab	0862cc3ca4
11:103014015 DYNC2H1 C>T	11	103014015	103014015	C	T	DYNC2H1	c.2593C>T	NM_001080463.1	NP_001073932.1:p.(Gln865Ter)	NC_000011.9:g.103014015C>T	(Likely) pathogenic	1 lab	0864f36e89
9:131375752 SPTAN1 A>G	9	131375752	131375752	A	G	SPTAN1	c.5136A>G	NM_001130438.2	NP_001123910.1:p.(Ile1712Met)	NC_000009.11:g.131375752A>G	VUS	1 lab	08685f6d4e
12:91558468 DCN G>A	12	91558468	91558468	G	A	DCN	c.238C>T	NM_001920.4	NP_001911.1:p.(Pro80Ser)	NC_000012.11:g.91558468G>A	VUS	1 lab	086a99d793
16:23568546 EARS2 C>T	16	23568546	23568546	C	T	EARS2	c.119G>A	NM_001083614.1	NP_001077083.1:p.(Arg40Gln)	NC_000016.9:g.23568546C>T	(Likely) pathogenic	1 lab	086b22eebd
1:61547629 NFIA G>A	1	61547629	61547629	G	A	NFIA	c.3+4329G>A	NM_001145511.1	NP_001138983.1:p.?	NC_000001.10:g.61547629G>A	VUS	1 lab	5401a77bb7
X:101093375 NXF5 C>T	X	101093375	101093375	C	T	NXF5	n.1103G>A	NR_028089.1		NC_000023.10:g.101093375C>T	(Likely) benign	1 lab	54365ea45c
2:179431313 TTN C>T	2	179431313	179431313	C	T	TTN	c.79546G>A	NM_001267550.2	NP_001254479.2:p.(Gly26516Ser)	NC_000002.11:g.179431313C>T	VUS	1 lab	0872611e4c
17:29663625 NF1 T>A	17	29663625	29663625	T	A	NF1	c.6148-28T>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29663625T>A	(Likely) benign	1 lab	0873522c33
1:19653095 SLC66A1 G>A	1	19653095	19653095	G	A	SLC66A1	c.596G>A	NM_001040125.2	NP_001035214.1:p.(Arg199Gln)	NC_000001.10:g.19653095G>A	VUS	1 lab	0873702acd
11:65638786 EFEMP2 T>C	11	65638786	65638786	T	C	EFEMP2	c.209A>G	NM_016938.4	NP_058634.4:p.(Lys70Arg)	NC_000011.9:g.65638786T>C	VUS	1 lab	087421c678
5:176939370 DDX41 C>T	5	176939370	176939370	C	T	DDX41	c.1574G>A	NM_016222.4	NP_057306.2:p.(Arg525His)	NC_000005.9:g.176939370C>T	(Likely) pathogenic	1 lab	0878e89537
18:44171933 LOXHD1 C>T	18	44171933	44171933	C	T	LOXHD1	c.1617G>A	NM_144612.6	NP_653213.6:p.(Met539Ile)	NC_000018.9:g.44171933C>T	VUS	1 lab	0879b2c881
8:72123475 EYA1 A>AAAAC	8	72123475	72123480	A	AAAAC	EYA1	c.1610_1613dup	NM_000503.5	NP_000494.2:p.(Phe538LeufsTer3)	NC_000008.10:g.72123477_72123480dup	(Likely) pathogenic	1 lab	087b8de63d
5:112175390 APC C>T	5	112175390	112175390	C	T	APC	c.4099C>T	NM_000038.5	NP_000029.2:p.(Gln1367Ter)	NC_000005.9:g.112175390C>T	(Likely) pathogenic	1 lab	087fe84e91
12:103237564 PAH G>T	12	103237564	103237564	G	T	PAH	c.1066-7C>A	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103237564G>T	VUS	1 lab	0882869c78
8:38271805 FGFR1 C>T	8	38271805	38271805	C	T	FGFR1	c.2051G>A	NM_023110.2	NP_075598.2:p.(Trp684Ter)	NC_000008.10:g.38271805C>T	(Likely) pathogenic	1 lab	0883821032
11:9200454 DENND5A T>C	11	9200454	9200454	T	C	DENND5A	c.1622A>G	NM_015213.3	NP_056028.2:p.(Asp541Gly)	NC_000011.9:g.9200454T>C	VUS	1 lab	08849ce86d
2:136616754 MCM6 C>T	2	136616754	136616754	C	T	MCM6	c.1362+117G>A	NM_005915.5	NP_005906.2:p.?	NC_000002.11:g.136616754C>T	(Likely) benign	1 lab	0885f98c96
10:73571765 CDH23 T>C	10	73571765	73571765	T	C	CDH23	c.9373T>C	NM_022124.5	NP_071407.4:p.(Phe3125Leu)	NC_000010.10:g.73571765T>C	(Likely) benign	1 lab	088b0c37b4
2:227896701 COL4A4 TG>T	2	227896701	227896703	TG	T	COL4A4	c.3776del	NM_000092.4	NP_000083.3:p.(Pro1259HisfsTer29)	NC_000002.11:g.227896703del	(Likely) pathogenic	1 lab	088c0ab924
4:120107736 MYOZ2 C>A	4	120107736	120107736	C	A	MYOZ2	c.*381C>A	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107736C>A	(Likely) benign	1 lab	088fc473e2
4:3502497 DOK7 G>C	4	3502497	3502497	G	C	DOK7	c.1772G>C	NM_001301071.1	NP_001288000.1:p.(Arg591Pro)	NC_000004.11:g.3502497G>C	VUS	1 lab	54394143bb
1:43393319 SLC2A1 C>T	1	43393319	43393319	C	T	SLC2A1	c.1235G>A	NM_006516.2	NP_006507.2:p.(Trp412Ter)	NC_000001.10:g.43393319C>T	(Likely) pathogenic	1 lab	089393e2f2
3:38739982 SCN10A G>A	3	38739982	38739982	G	A	SCN10A	c.4729C>T	NM_006514.4	NP_006505.4:p.(Leu1577=)	NC_000003.11:g.38739982G>A	(Likely) benign	1 lab	089a305950
X:100608857 BTK C>T	X	100608857	100608857	C	T	BTK	c.1750+1G>A	NM_000061.3	NP_000052.1:p.?	NC_000023.10:g.100608857C>T	(Likely) pathogenic	1 lab	08a2e99c15
20:62070962 KCNQ2 CGAA>C	20	62070962	62070969	CGAA	C	KCNQ2	c.913_915del	NM_172107.3	NP_742105.1:p.(Phe305del)	NC_000020.10:g.62070967_62070969del	(Likely) pathogenic	1 lab	08a2f405d2
X:55040072 ALAS2 C>T	X	55040072	55040072	C	T	ALAS2	c.1447G>A	NM_000032.4	NP_000023.2:p.(Ala483Thr)	NC_000023.10:g.55040072C>T	VUS	1 lab	08a3104f3f
8:38283702 FGFR1 T>C	8	38283702	38283702	T	C	FGFR1	c.683A>G	NM_023110.2	NP_075598.2:p.(Tyr228Cys)	NC_000008.10:g.38283702T>C	(Likely) pathogenic	1 lab	08a3b9c207
X:129289256 AIFM1 G>A	X	129289256	129289256	G	A	AIFM1				NC_000023.10:g.129289256G>A	VUS	1 lab	08a64dc05e
17:29586088 NF1 A>T	17	29586088	29586088	A	T	NF1	c.4371A>T	NM_001042492.3	NP_001035957.1:p.(Lys1457Asn)	NC_000017.10:g.29586088A>T	VUS	1 lab	08a6db8b3c
10:121410917 BAG3 C>T	10	121410917	121410917	C	T	BAG3	c.-271C>T	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121410917C>T	(Likely) benign	1 lab	08a9e8c612
11:2189185 TH G>A	11	2189185	2189185	G	A	TH	c.670-22C>T	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2189185G>A	(Likely) benign	1 lab	08aa481dc2
19:42492162 ATP1A3 A>G	19	42492162	42492162	A	G	ATP1A3				NC_000019.9:g.42492162A>G	VUS	1 lab	08af5bd8c0
6:129419442 LAMA2 C>T	6	129419442	129419442	C	T	LAMA2	c.521C>T	NM_000426.3	NP_000417.2:p.(Thr174Met)	NC_000006.11:g.129419442C>T	VUS	1 lab	08b0b3c1d3
4:68606298 GNRHR A>T	4	68606298	68606298	A	T	GNRHR	c.887T>A	NM_000406.2	NP_000397.1:p.(Met296Lys)	NC_000004.11:g.68606298A>T	VUS	1 lab	08b2ef92c0
16:56226506 GNAO1 A>G	16	56226506	56226506	A	G	GNAO1	c.139A>G	NM_020988.2	NP_066268.1:p.(Ser47Gly)	NC_000016.9:g.56226506A>G	(Likely) pathogenic	1 lab	08b8296f9c
3:32201085 GPD1L T>C	3	32201085	32201085	T	C	GPD1L	c.878T>C	NM_015141.3	NP_055956.1:p.(Met293Thr)	NC_000003.11:g.32201085T>C	VUS	1 lab	08bcc45352
12:49439702 KMT2D C>G	12	49439702	49439702	C	G	KMT2D	c.4741+1G>C	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49439702C>G	(Likely) pathogenic	1 lab	08bdd348eb
X:85166265 CHM C>T	X	85166265	85166265	C	T	CHM	c.1244+1G>A	NM_000390.3	NP_000381.1:p.?	NC_000023.10:g.85166265C>T	(Likely) pathogenic	1 lab	08bf2ffef0
15:42702843 CAPN3 C>T	15	42702843	42702843	C	T	CAPN3	c.2242C>T	NM_000070.2	NP_000061.1:p.(Arg748Ter)	NC_000015.9:g.42702843C>T	(Likely) pathogenic	1 lab	08c1b860e1
3:38835470 SCN10A T>A	3	38835470	38835470	T	A	SCN10A	c.32A>T	NM_006514.4	NP_006505.4:p.(Asn11Ile)	NC_000003.11:g.38835470T>A	(Likely) benign	1 lab	08c1f9715c
1:94490606 ABCA4 T>C	1	94490606	94490606	T	C	ABCA4	c.4540-2A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94490606T>C	(Likely) pathogenic	1 lab	08c206abca
7:149474062 SSPOP T>C	7	149474062	149474062	T	C	SSPOP	n.272T>C	NR_163594.1		NC_000007.13:g.149474062T>C	VUS	1 lab	54ee3f1e5a
3:46899915 MYL3 A>G	3	46899915	46899915	A	G	MYL3	c.518T>C	NM_000258.2	NP_000249.1:p.(Met173Thr)	NC_000003.11:g.46899915A>G	(Likely) pathogenic	1 lab	08c39fc7db
3:37042425 MLH1 C>T	3	37042425	37042425	C	T	MLH1	c.208-21C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37042425C>T	(Likely) benign	1 lab	08c3c472ee
1:6046338 NPHP4 C>T	1	6046338	6046338	C	T	NPHP4	c.12G>A	NM_015102.5	NP_055917.1:p.(Trp4Ter)	NC_000001.10:g.6046338C>T	(Likely) pathogenic	1 lab	08c3e3f390
X:153577831 FLNA G>A	X	153577831	153577831	G	A	FLNA	c.7655C>T	NM_001110556.1	NP_001104026.1:p.(Pro2552Leu)	NC_000023.10:g.153577831G>A	(Likely) benign	1 lab	08c665b9f8
12:53819758 AMHR2 G>A	12	53819758	53819758	G	A	AMHR2	c.852+55G>A	NM_020547.3	NP_065434.1:p.?	NC_000012.11:g.53819758G>A	VUS	1 lab	000d0fc54b
15:48812936 FBN1 AT>A	15	48812936	48812940	AT	A	FBN1	c.1066del	NM_000138.4	NP_000129.3:p.(Met356CysfsTer39)	NC_000015.9:g.48812940del	VUS	1 lab	08d03305b3
5:74807617 CERT1 G>A	5	74807617	74807617	G	A	CERT1	c.53C>T	NM_001130105.1	NP_001123577.1:p.(Ala18Val)	NC_000005.9:g.74807617G>A	(Likely) benign	1 lab	5646931ef1
1:16370314 CLCNKB G>T	1	16370314	16370314	G	T	CLCNKB				NC_000001.10:g.16370314G>T	(Likely) benign	1 lab	08d438b405
11:47599097 KBTBD4 C>T	11	47599097	47599097	C	T	KBTBD4	c.602G>A	NM_001318716.1	NP_001305645.1:p.(Trp201Ter)	NC_000011.9:g.47599097C>T	VUS	1 lab	08d62941fc
19:38989862 RYR1 C>T	19	38989862	38989862	C	T	RYR1	c.7006C>T	NM_000540.3	NP_000531.2:p.(Arg2336Cys)	NC_000019.9:g.38989862C>T	VUS	1 lab	08da2f4a70
9:34649449 GALT G>A	9	34649449	34649449	G	A	GALT	c.947G>A	NM_000155.4	NP_000146.2:p.(Trp316Ter)	NC_000009.11:g.34649449G>A	(Likely) pathogenic	1 lab	08db842700
2:223086091 PAX3 G>A	2	223086091	223086091	G	A	PAX3	c.808C>T	NM_181459.3	NP_852124.1:p.(Arg270Cys)	NC_000002.11:g.223086091G>A	(Likely) pathogenic	1 lab	08dd08b792
11:76868347 MYO7A A>G	11	76868347	76868347	A	G	MYO7A	c.758A>G	NM_000260.3	NP_000251.3:p.(His253Arg)	NC_000011.9:g.76868347A>G	VUS	1 lab	08decf023a
4:6303554 WFS1 T>C	4	6303554	6303554	T	C	WFS1	c.2032T>C	NM_006005.3	NP_005996.2:p.(Trp678Arg)	NC_000004.11:g.6303554T>C	VUS	1 lab	08e35ff152
17:18043817 MYO15A C>T	17	18043817	18043817	C	T	MYO15A	c.5212-14C>T	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18043817C>T	(Likely) benign	1 lab	08e3d432a8
6:10877516 GCM2 C>A	6	10877516	10877516	C	A	GCM2				NC_000006.11:g.10877516C>A	(Likely) pathogenic	1 lab	08e4660d2c
3:52442623 BAP1 C>T	3	52442623	52442623	C	T	BAP1	c.123-1G>A	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52442623C>T	(Likely) pathogenic	1 lab	08eca2791e
8:61736580 CHD7 G>A	8	61736580	61736580	G	A	CHD7	c.3378+5G>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61736580G>A	(Likely) pathogenic	1 lab	08efd0fc70
2:228158034 COL4A3 G>A	2	228158034	228158034	G	A	COL4A3				NC_000002.11:g.228158034G>A	(Likely) pathogenic	1 lab	08f21eace4
12:80761411 OTOGL G>T	12	80761411	80761411	G	T	OTOGL	c.6375G>T	NM_173591.3	NP_775862.3:p.(Leu2125Phe)	NC_000012.11:g.80761411G>T	(Likely) benign	1 lab	08f466eb1f
22:24325182 GSTT2 G>A	22	24325182	24325182	G	A	GSTT2	c.472G>A	NM_000854.3	NP_000845.1:p.(Ala158Thr)	NC_000022.10:g.24325182G>A	(Likely) benign	1 lab	57ab6c2bab
11:17531146 USH1C G>A	11	17531146	17531146	G	A	USH1C	c.1770C>T	NM_153676.3	NP_710142.1:p.(Ala590=)	NC_000011.9:g.17531146G>A	(Likely) benign	1 lab	08f85ec3c2
16:56912014 SLC12A3 G>A	16	56912014	56912014	G	A	SLC12A3	c.1121G>A	NM_000339.2	NP_000330.2:p.(Gly374Glu)	NC_000016.9:g.56912014G>A	(Likely) pathogenic	1 lab	08fb7c59ce
19:50795566 MYH14 C>T	19	50795566	50795566	C	T	MYH14	c.5176C>T	NM_001145809.1	NP_001139281.1:p.(Arg1726Trp)	NC_000019.9:g.50795566C>T	VUS	1 lab	08fdf00aa6
3:10106034 FANCD2 C>A	3	10106034	10106034	C	A	FANCD2	c.1948-6C>A	NM_033084.3	NP_149075.2:p.?	NC_000003.11:g.10106034C>A	(Likely) pathogenic	1 lab	08fecaf621
7:73471785 ELN G>A	7	73471785	73471785	G	A	ELN	c.1358-185G>A	NM_001278915.1	NP_001265844.1:p.?	NC_000007.13:g.73471785G>A	(Likely) benign	1 lab	09007941c7
6:64430866 EYS C>G	6	64430866	64430866	C	G	EYS	c.9061G>C	NM_001142800.1	NP_001136272.1:p.(Ala3021Pro)	NC_000006.11:g.64430866C>G	VUS	1 lab	0901dbc400
3:121514455 IQCB1 CT>C	3	121514455	121514458	CT	C	IQCB1	c.877-43del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121514458del	(Likely) benign	1 lab	34b82c0991
16:46723598 VPS35 T>C	16	46723598	46723598	T	C	VPS35				NC_000016.9:g.46723598T>C	(Likely) benign	1 lab	c1ddd98ad5
5:112111435 APC G>A	5	112111435	112111435	G	A	APC	c.531+1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111435G>A	(Likely) pathogenic	1 lab	09072c6360
X:153593345 FLNA A>G	X	153593345	153593345	A	G	FLNA				NC_000023.10:g.153593345A>G	(Likely) benign	1 lab	09074033e8
7:30673345 GARS C>T	7	30673345	30673345	C	T	GARS				NC_000007.13:g.30673345C>T	(Likely) benign	1 lab	0909906b3b
X:73960305 NEXMIF T>A	X	73960305	73960305	T	A	NEXMIF	c.4087A>T	NM_001008537.2	NP_001008537.1:p.(Lys1363Ter)	NC_000023.10:g.73960305T>A	(Likely) pathogenic	1 lab	090bb56249
6:121768180 GJA1 A>G	6	121768180	121768180	A	G	GJA1	c.187A>G	NM_000165.3	NP_000156.1:p.(Asn63Asp)	NC_000006.11:g.121768180A>G	VUS	1 lab	090fb06b2d
6:133827246 EYA4 T>TC	6	133827246	133827252	T	TC	EYA4				NC_000006.11:g.133827252dup	(Likely) pathogenic	1 lab	0916118b11
3:38833608 SCN10A G>A	3	38833608	38833608	G	A	SCN10A	c.322C>T	NM_006514.3	NP_006505.3:p.(Arg108Trp)	NC_000003.11:g.38833608G>A	(Likely) benign	1 lab	09174029d3
19:39882014 MED29 CGGGG>C	19	39882014	39882018	CGGGG	C	MED29	c.16_19del	NM_001317770.1	NP_001304699.1:p.(Gly6ArgfsTer82)	NC_000019.9:g.39882015_39882018del	VUS	1 lab	5b1f9d6223
9:34371844 MYORG ATCGAAG>A	9	34371844	34371859	ATCGAAG	A	MYORG	c.1092_1097del	NM_020702.4	NP_065753.2:p.(Phe365_Asp366del)	NC_000009.11:g.34371854_34371859del	(Likely) pathogenic	1 lab	091876e4b5
19:48342897 CRX T>A	19	48342897	48342897	T	A	CRX	c.573T>A	NM_000554.4	NP_000545.1:p.(Tyr191Ter)	NC_000019.9:g.48342897T>A	(Likely) pathogenic	1 lab	091c62c2b7
1:202715277 KDM5B T>C	1	202715277	202715277	T	C	KDM5B	c.2191A>G	NM_006618.3	NP_006609.3:p.(Lys731Glu)	NC_000001.10:g.202715277T>C	(Likely) benign	1 lab	091d25bb77
11:108188151 ATM T>C	11	108188151	108188151	T	C	ATM	c.6250T>C	NM_000051.3	NP_000042.3:p.(Leu2084=)	NC_000011.9:g.108188151T>C	(Likely) benign	1 lab	091d27b03a
6:76617371 MYO6 G>C	6	76617371	76617371	G	C	MYO6	c.3226G>C	NM_004999.3	NP_004990.3:p.(Asp1076His)	NC_000006.11:g.76617371G>C	VUS	1 lab	091e097d49
6:112476870 LAMA4 T>G	6	112476870	112476870	T	G	LAMA4	c.1856A>C	NM_001105206.2	NP_001098676.2:p.(Lys619Thr)	NC_000006.11:g.112476870T>G	VUS	1 lab	092400f8aa
5:112043462 APC T>G	5	112043462	112043462	T	G	APC				NC_000005.9:g.112043462T>G	(Likely) benign	1 lab	0924c2b96b
1:153785853 GATAD2B C>T	1	153785853	153785853	C	T	GATAD2B	c.1292G>A	NM_020699.4	NP_065750.1:p.(Trp431Ter)	NC_000001.10:g.153785853C>T	(Likely) pathogenic	1 lab	0926424c60
2:169828412 ABCB11 A>G	2	169828412	169828412	A	G	ABCB11	c.1583T>C	NM_003742.4	NP_003733.2:p.(Ile528Thr)	NC_000002.11:g.169828412A>G	(Likely) pathogenic	1 lab	092666e947
15:58306107 ALDH1A2 A>G	15	58306107	58306107	A	G	ALDH1A2	c.312T>C	NM_003888.3	NP_003879.2:p.(Arg104=)	NC_000015.9:g.58306107A>G	(Likely) benign	1 lab	092a43ed8e
20:2845664 VPS16 A>G	20	2845664	2845664	A	G	VPS16	c.1967A>G	NM_022575.4	NP_072097.2:p.(Asp656Gly)	NC_000020.10:g.2845664A>G	(Likely) benign	1 lab	092ab906c2
19:10475649 TYK2 C>T	19	10475649	10475649	C	T	TYK2	c.1087G>A	NM_003331.5	NP_003322.3:p.(Gly363Ser)	NC_000019.9:g.10475649C>T	(Likely) benign	1 lab	092b1c2f8e
2:167168190 SCN9A C>A	2	167168190	167168190	C	A	SCN9A	c.77G>T	NM_002977.3	NP_002968.1:p.(Arg26Leu)	NC_000002.11:g.167168190C>A	VUS	1 lab	092d8a33a9
12:52163068 SCN8A C>T	12	52163068	52163068	C	T	SCN8A	c.3321C>T	NM_014191.3	NP_055006.1:p.(Asn1107=)	NC_000012.11:g.52163068C>T	(Likely) benign	1 lab	093338b6f5
2:228148999 COL4A3 G>A	2	228148999	228148999	G	A	COL4A3	c.2819G>A	NM_000091.4	NP_000082.2:p.(Gly940Glu)	NC_000002.11:g.228148999G>A	(Likely) pathogenic	1 lab	093749806b
X:153583255 FLNA T>G	X	153583255	153583255	T	G	FLNA	c.5131A>C	NM_001456.3	NP_001447.2:p.(Lys1711Gln)	NC_000023.10:g.153583255T>G	VUS	1 lab	0938015cdf
2:48028254 MSH6 C>A	2	48028254	48028254	C	A	MSH6	c.3132C>A	NM_000179.2	NP_000170.1:p.(Tyr1044Ter)	NC_000002.11:g.48028254C>A	(Likely) pathogenic	1 lab	09381ee689
1:156084782 LMNA C>G	1	156084782	156084782	C	G	LMNA	c.73C>G	NM_170708.3	NP_733822.1:p.(Arg25Gly)	NC_000001.10:g.156084782C>G	VUS	1 lab	0938c617ce
16:88871908 CDT1 A>G	16	88871908	88871908	A	G	CDT1	c.549A>G	NM_030928.3	NP_112190.2:p.(Gly183=)	NC_000016.9:g.88871908A>G	(Likely) benign	1 lab	09414436f9
3:140285115 CLSTN2 T>C	3	140285115	140285115	T	C	CLSTN2	c.*20T>C	NM_022131.2	NP_071414.2:p.?	NC_000003.11:g.140285115T>C	(Likely) benign	1 lab	094152e08c
1:196642207 CFH G>T	1	196642207	196642207	G	T	CFH	c.158G>T	NM_000186.3	NP_000177.2:p.(Arg53Leu)	NC_000001.10:g.196642207G>T	VUS	1 lab	0943547b55
8:1616776 DLGAP2 G>A	8	1616776	1616776	G	A	DLGAP2				NC_000008.10:g.1616776G>A	VUS	1 lab	0943a5af77
1:237801639 RYR2 T>TAA	1	237801639	237801641	T	TAA	RYR2	c.6793-17_6793-16dup	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237801640_237801641dup	(Likely) benign	1 lab	0943fc3cd3
17:17131463 FLCN G>A	17	17131463	17131463	G	A	FLCN	c.-12C>T	NM_144997.6	NP_659434.2:p.?	NC_000017.10:g.17131463G>A	(Likely) benign	1 lab	09447e431b
15:48726893 FBN1 C>T	15	48726893	48726893	C	T	FBN1	c.6514G>A	NM_000138.4	NP_000129.3:p.(Val2172Ile)	NC_000015.9:g.48726893C>T	VUS	1 lab	0944efed0d
11:68549447 CPT1A C>T	11	68549447	68549447	C	T	CPT1A	c.1164-20G>A	NM_001876.3	NP_001867.2:p.?	NC_000011.9:g.68549447C>T	(Likely) benign	1 lab	0946c1052f
6:35477032 TULP1 A>G	6	35477032	35477032	A	G	TULP1	c.776T>C	NM_003322.6	NP_003313.3:p.(Ile259Thr)	NC_000006.11:g.35477032A>G	(Likely) benign	1 lab	094a2018ec
1:216051157 USH2A C>T	1	216051157	216051157	C	T	USH2A	c.8624G>A	NM_206933.2	NP_996816.2:p.(Arg2875Gln)	NC_000001.10:g.216051157C>T	(Likely) benign	1 lab	094cd116a2
2:179462477 TTN C>T	2	179462477	179462477	C	T	TTN	c.57332G>A	NM_001267550.2	NP_001254479.2:p.(Arg19111Gln)	NC_000002.11:g.179462477C>T	VUS	1 lab	094da810a4
2:71192263 ATP6V1B1 G>A	2	71192263	71192263	G	A	ATP6V1B1	c.*12G>A	NM_001692.3	NP_001683.2:p.?	NC_000002.11:g.71192263G>A	(Likely) benign	1 lab	094e2be730
2:197643742 GTF3C3 A>G	2	197643742	197643742	A	G	GTF3C3	c.1268T>C	NM_012086.5	NP_036218.1:p.(Leu423Pro)	NC_000002.11:g.197643742A>G	VUS	1 lab	09512f8d69
1:78458494 DNAJB4 G>C	1	78458494	78458494	G	C	DNAJB4	c.-31-12270G>C	NM_001317099.1	NP_001304028.1:p.?	NC_000001.10:g.78458494G>C	VUS	1 lab	5b5fd4a6a7
7:32467510 PDE1C CCT>C	7	32467510	32467513	CCT	C	PDE1C	c.232_233del	NM_001322059.1	NP_001308988.1:p.(Arg78AlafsTer10)	NC_000007.13:g.32467512_32467513del	VUS	1 lab	5bf91b5cbc
20:57429116 GNAS C>T	20	57429116	57429116	C	T	GNAS	c.609C>T	NM_001077490.1	NP_001070958.1:p.(Ala203=)	NC_000020.10:g.57429116C>T	VUS	1 lab	5c13d47cc3
14:23901655 MYH7 T>C	14	23901655	23901655	T	C	MYH7	c.530+33A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23901655T>C	(Likely) benign	1 lab	0960dd5fd1
11:67938619 KMT5B CTAAAA>C	11	67938619	67938629	CTAAAA	C	KMT5B				NC_000011.9:g.67938625_67938629del	(Likely) pathogenic	1 lab	0961456aae
2:227917240 COL4A4 C>G	2	227917240	227917240	C	G	COL4A4	c.2861-112G>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227917240C>G	(Likely) benign	1 lab	0963e92fb4
6:33414487 SYNGAP1 C>T	6	33414487	33414487	C	T	SYNGAP1	c.3718C>T	NM_006772.2	NP_006763.2:p.(Arg1240Ter)	NC_000006.11:g.33414487C>T	(Likely) pathogenic	1 lab	09676d8c90
6:39838114 DAAM2 A>G	6	39838114	39838114	A	G	DAAM2	c.874-2A>G	NM_001201427.1	NP_001188356.1:p.?	NC_000006.11:g.39838114A>G	(Likely) benign	1 lab	096be1d9ce
14:23869488 MYH6 C>T	14	23869488	23869488	C	T	MYH6	c.1558G>A	NM_002471.3	NP_002462.2:p.(Ala520Thr)	NC_000014.8:g.23869488C>T	VUS	1 lab	096dc9c49f
17:29670190 NF1 C>G	17	29670190	29670190	C	G	NF1	c.7189+37C>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29670190C>G	(Likely) benign	1 lab	09718a940f
4:120085449 MYOZ2 C>A	4	120085449	120085449	C	A	MYOZ2				NC_000004.11:g.120085449C>A	VUS	1 lab	097213ecac
1:216062138 USH2A C>T	1	216062138	216062138	C	T	USH2A	c.7853G>A	NM_206933.2	NP_996816.2:p.(Trp2618Ter)	NC_000001.10:g.216062138C>T	(Likely) pathogenic	1 lab	097bb83629
20:57429619 GNAS A>G	20	57429619	57429619	A	G	GNAS	c.1112A>G	NM_001077490.1	NP_001070958.1:p.(Gln371Arg)	NC_000020.10:g.57429619A>G	(Likely) benign	1 lab	5c1898800a
7:128484242 FLNC G>T	7	128484242	128484242	G	T	FLNC	c.3114G>T	NM_001458.4	NP_001449.3:p.(Val1038=)	NC_000007.13:g.128484242G>T	(Likely) benign	1 lab	097cc185ae
10:71075518 HK1 A>G	10	71075518	71075518	A	G	HK1	c.75+20082A>G	NM_001322364.1	NP_001309293.1:p.?	NC_000010.10:g.71075518A>G	(Likely) benign	1 lab	5c2623de88
17:37985743 IKZF3 T>C	17	37985743	37985743	T	C	IKZF3	c.62-2A>G	NM_012481.5	NP_036613.2:p.?	NC_000017.10:g.37985743T>C	VUS	1 lab	09803ca2e6
13:23894793 SGCG G>A	13	23894793	23894793	G	A	SGCG	c.596G>A	NM_000231.2	NP_000222.1:p.(Arg199Gln)	NC_000013.10:g.23894793G>A	VUS	1 lab	09825b9dc0
20:62065238 KCNQ2 C>T	20	62065238	62065238	C	T	KCNQ2	c.1042G>A	NM_172107.2	NP_742105.1:p.(Ala348Thr)	NC_000020.10:g.62065238C>T	VUS	1 lab	098292b6f6
9:139412884 NOTCH1 C>T	9	139412884	139412884	C	T	NOTCH1	c.1100-140G>A	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139412884C>T	(Likely) benign	1 lab	09836fd83f
1:196682956 CFH A>G	1	196682956	196682956	A	G	CFH	c.1428A>G	NM_000186.4	NP_000177.2:p.(Gln476=)	NC_000001.10:g.196682956A>G	(Likely) benign	1 lab	09849ec8e5
16:31499713 SLC5A2 C>T	16	31499713	31499713	C	T	SLC5A2	c.1031C>T	NM_003041.3	NP_003032.1:p.(Ala344Val)	NC_000016.9:g.31499713C>T	VUS	1 lab	0984b108fd
12:6701174 CHD4 G>A	12	6701174	6701174	G	A	CHD4	c.2998C>T	NM_001273.5	NP_001264.2:p.(Arg1000Ter)	NC_000012.11:g.6701174G>A	(Likely) benign	1 lab	0984d8c076
20:57430074 GNAS C>A	20	57430074	57430074	C	A	GNAS	c.1567C>A	NM_001077490.1	NP_001070958.1:p.(Pro523Thr)	NC_000020.10:g.57430074C>A	(Likely) benign	1 lab	5c304c5a95
3:130715589 ATP2C1 C>A	3	130715589	130715589	C	A	ATP2C1	c.2192C>A	NM_014382.3	NP_055197.2:p.(Ala731Asp)	NC_000003.11:g.130715589C>A	(Likely) pathogenic	1 lab	0986f51afd
2:32352093 SPAST T>A	2	32352093	32352093	T	A	SPAST				NC_000002.11:g.32352093T>A	(Likely) pathogenic	1 lab	0a90a6cb04
1:215848447 USH2A G>T	1	215848447	215848447	G	T	USH2A	c.12806C>A	NM_206933.2	NP_996816.2:p.(Pro4269His)	NC_000001.10:g.215848447G>T	(Likely) pathogenic	1 lab	0987a08117
2:167301500 SCN7A T>C	2	167301500	167301500	T	C	SCN7A	c.1398A>G	NM_002976.3	NP_002967.2:p.(Lys466=)	NC_000002.11:g.167301500T>C	(Likely) benign	1 lab	098880ccfa
15:90193067 KIF7 T>G	15	90193067	90193067	T	G	KIF7	c.434A>C	NM_198525.2	NP_940927.2:p.(Tyr145Ser)	NC_000015.9:g.90193067T>G	VUS	1 lab	0989461476
X:18660191 RS1 G>A	X	18660191	18660191	G	A	RS1	c.608C>T	NM_000330.3	NP_000321.1:p.(Pro203Leu)	NC_000023.10:g.18660191G>A	(Likely) pathogenic	1 lab	0989ac65f8
1:17085653 MST1L G>C	1	17085653	17085653	G	C	MST1L	c.1068C>G	NM_001271733.1	NP_001258662.1:p.(His356Gln)	NC_000001.10:g.17085653G>C	(Likely) benign	1 lab	5c7dad1d1c
1:46598452 PIK3R3 G>A	1	46598452	46598452	G	A	PIK3R3	c.-5+4C>T	NM_001114172.1	NP_001107644.1:p.?	NC_000001.10:g.46598452G>A	(Likely) benign	1 lab	5c97bcd485
9:139401765 NOTCH1 C>T	9	139401765	139401765	C	T	NOTCH1	c.3635G>A	NM_017617.3	NP_060087.3:p.(Gly1212Asp)	NC_000009.11:g.139401765C>T	VUS	1 lab	099282f147
11:32413565 WT1 C>T	11	32413565	32413565	C	T	WT1				NC_000011.9:g.32413565C>T	(Likely) pathogenic	1 lab	0993df5732
14:64694276 ESR2 A>AAAAG	14	64694276	64694281	A	AAAAG	ESR2	c.1459_1462dup	NM_001040275.1	NP_001035365.1:p.(Leu488SerfsTer4)	NC_000014.8:g.64694278_64694281dup	VUS	1 lab	5cd5f87289
15:75182892 MPI A>C	15	75182892	75182892	A	C	MPI	c.41A>C	NM_002435.2	NP_002426.1:p.(Gln14Pro)	NC_000015.9:g.75182892A>C	VUS	1 lab	0995f00a97
2:179635263 TTN C>T	2	179635263	179635263	C	T	TTN	c.8256G>A	NM_001267550.2	NP_001254479.2:p.(Lys2752=)	NC_000002.11:g.179635263C>T	(Likely) benign	1 lab	0996a0fe19
2:179576859 TTN T>G	2	179576859	179576859	T	G	TTN	c.27698A>C	NM_001267550.2	NP_001254479.2:p.(Glu9233Ala)	NC_000002.11:g.179576859T>G	VUS	1 lab	0996c70213
5:1272379 TERT T>A	5	1272379	1272379	T	A	TERT	c.2303A>T	NM_198253.3	NP_937983.2:p.(Asp768Val)	NC_000005.9:g.1272379T>A	VUS	1 lab	09975ca063
5:137776776 REEP2 A>G	5	137776776	137776776	A	G	REEP2	c.104A>G	NM_001271803.1	NP_001258732.1:p.(Tyr35Cys)	NC_000005.9:g.137776776A>G	VUS	1 lab	099b2884e6
2:189870103 COL3A1 G>A	2	189870103	189870103	G	A	COL3A1	c.2959G>A	NM_000090.4	NP_000081.2:p.(Gly987Ser)	NC_000002.11:g.189870103G>A	(Likely) pathogenic	1 lab	099ba5e0bd
4:155505970 FGA A>AG	4	155505970	155505972	A	AG	FGA	c.1906dup	NM_000508.3	NP_000499.1:p.(Leu636ProfsTer22)	NC_000004.11:g.155505972dup	VUS	1 lab	5d235246eb
1:152278449 FLG TC>T	1	152278449	152278450	TC	T	FLG	c.8912del	NM_002016.2	NP_002007.1:p.(Arg2971AsnfsTer96)	NC_000001.10:g.152278450del	(Likely) pathogenic	1 lab	099ecb66f0
1:94528132 ABCA4 C>A	1	94528132	94528132	C	A	ABCA4	c.1937+1G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94528132C>A	(Likely) pathogenic	1 lab	09a007dce0
9:131346163 SPTAN1 C>T	9	131346163	131346163	C	T	SPTAN1	c.2108C>T	NM_001130438.2	NP_001123910.1:p.(Ser703Leu)	NC_000009.11:g.131346163C>T	VUS	1 lab	09a199d54a
1:228552767 OBSCN T>G	1	228552767	228552767	T	G	OBSCN	c.21798T>G	NM_001271223.2	NP_001258152.2:p.(Thr7266=)	NC_000001.10:g.228552767T>G	(Likely) benign	1 lab	09a293288f
2:47643559 MSH2 T>A	2	47643559	47643559	T	A	MSH2	c.1067T>A	NM_000251.2	NP_000242.1:p.(Ile356Lys)	NC_000002.11:g.47643559T>A	VUS	1 lab	09a3ff90c1
1:241663800 FH C>A	1	241663800	241663800	C	A	FH	c.1327G>T	NM_000143.4	NP_000134.2:p.(Glu443Ter)	NC_000001.10:g.241663800C>A	(Likely) pathogenic	1 lab	09a81afdc8
2:179641926 TTN T>C	2	179641926	179641926	T	C	TTN	c.4764A>G	NM_001267550.2	NP_001254479.2:p.(Val1588=)	NC_000002.11:g.179641926T>C	(Likely) benign	1 lab	09a8781cfe
10:69902780 MYPN C>T	10	69902780	69902780	C	T	MYPN	c.986C>T	NM_032578.3	NP_115967.2:p.(Ala329Val)	NC_000010.10:g.69902780C>T	(Likely) benign	1 lab	09a898c88e
19:6501546 TUBB4A A>C	19	6501546	6501546	A	C	TUBB4A	c.299T>G	NM_001289123.1	NP_001276052.1:p.(Val100Gly)	NC_000019.9:g.6501546A>C	(Likely) benign	1 lab	09b4903ad7
4:16000113 PROM1 T>G	4	16000113	16000113	T	G	PROM1	c.1579-2A>C	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.16000113T>G	(Likely) pathogenic	1 lab	09b845634f
4:3498588 DOK7 A>G	4	3498588	3498588	A	G	DOK7	c.1539A>G	NM_001301071.1	NP_001288000.1:p.(Ser513=)	NC_000004.11:g.3498588A>G	VUS	1 lab	5dd94f5060
1:196874259 CFHR4 T>C	1	196874259	196874259	T	C	CFHR4	c.278T>C	NM_001201550.2	NP_001188479.1:p.(Val93Ala)	NC_000001.10:g.196874259T>C	VUS	1 lab	09b9c9588d
4:68619618 GNRHR G>A	4	68619618	68619618	G	A	GNRHR	c.436C>T	NM_000406.2	NP_000397.1:p.(Pro146Ser)	NC_000004.11:g.68619618G>A	VUS	1 lab	09bf2515fa
18:2673357 SMCHD1 A>C	18	2673357	2673357	A	C	SMCHD1	c.502A>C	NM_015295.3	NP_056110.2:p.(Lys168Gln)	NC_000018.9:g.2673357A>C	VUS	1 lab	09c15c5e4b
4:110681679 CFI C>T	4	110681679	110681679	C	T	CFI	c.772G>A	NM_000204.5	NP_000195.3:p.(Ala258Thr)	NC_000004.11:g.110681679C>T	(Likely) pathogenic	1 lab	09c272aec4
2:228009286 COL4A4 C>T	2	228009286	228009286	C	T	COL4A4	c.72-12G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228009286C>T	(Likely) benign	1 lab	09c364a67a
3:38622727 SCN5A G>A	3	38622727	38622727	G	A	SCN5A	c.2923C>T	NM_198056.2	NP_932173.1:p.(Arg975Trp)	NC_000003.11:g.38622727G>A	VUS	1 lab	09c3c85859
12:24404850 SOX5 G>T	12	24404850	24404850	G	T	SOX5	c.-77+25300C>A	NM_001261414.1	NP_001248343.1:p.?	NC_000012.11:g.24404850G>T	(Likely) benign	1 lab	5df441e2f8
14:23900938 MYH7 C>T	14	23900938	23900938	C	T	MYH7	c.639+32G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900938C>T	(Likely) benign	1 lab	09cb23cc5e
3:121976019 CASR C>T	3	121976019	121976019	C	T	CASR	c.277C>T	NM_000388.3	NP_000379.2:p.(Leu93=)	NC_000003.11:g.121976019C>T	(Likely) benign	1 lab	09d05fec56
18:28672160 DSC2 T>C	18	28672160	28672160	T	C	DSC2	c.258A>G	NM_024422.6	NP_077740.1:p.(Leu86=)	NC_000018.9:g.28672160T>C	(Likely) benign	1 lab	09d480f6d2
2:220290991 DES C>T	2	220290991	220290991	C	T	DES	c.*279C>T	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290991C>T	(Likely) benign	1 lab	09d8ebbd3b
7:6031579 PMS2 G>C	7	6031579	6031579	G	C	PMS2	c.988+25C>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6031579G>C	(Likely) benign	1 lab	09d971ec55
4:187197520 F11 A>G	4	187197520	187197520	A	G	F11	c.731A>G	NM_000128.3	NP_000119.1:p.(Gln244Arg)	NC_000004.11:g.187197520A>G	(Likely) benign	1 lab	09d9750c45
X:29301321 IL1RAPL1 G>A	X	29301321	29301321	G	A	IL1RAPL1	c.349G>A	NM_014271.3	NP_055086.1:p.(Ala117Thr)	NC_000023.10:g.29301321G>A	(Likely) benign	1 lab	09da25d8c8
2:48026562 MSH6 A>T	2	48026562	48026562	A	T	MSH6	c.1440A>T	NM_000179.3	NP_000170.1:p.(Val480=)	NC_000002.11:g.48026562A>T	(Likely) benign	1 lab	09dacf79c0
8:24811750 NEFL A>C	8	24811750	24811750	A	C	NEFL	c.1114T>G	NM_006158.4	NP_006149.2:p.(Tyr372Asp)	NC_000008.10:g.24811750A>C	VUS	1 lab	09debb1ddf
12:5021083 KCNA1 C>T	12	5021083	5021083	C	T	KCNA1	c.539C>T	NM_000217.3	NP_000208.2:p.(Ser180Phe)	NC_000012.11:g.5021083C>T	(Likely) pathogenic	1 lab	09dfa53150
5:87486054 TMEM161B C>T	5	87486054	87486054	C	T	TMEM161B	c.1324G>A	NM_001289007.1	NP_001275936.1:p.(Val442Ile)	NC_000005.9:g.87486054C>T	(Likely) benign	1 lab	5e24a79b2b
4:110883121 EGF G>A	4	110883121	110883121	G	A	EGF	c.1292G>A	NM_001963.4	NP_001954.2:p.(Arg431Lys)	NC_000004.11:g.110883121G>A	(Likely) benign	1 lab	09e0113685
5:175530752 FAM153B G>A	5	175530752	175530752	G	A	FAM153B	n.1271-7G>A	NR_169299.1		NC_000005.9:g.175530752G>A	(Likely) benign	1 lab	762e9af210
14:64884644 MTHFD1 C>T	14	64884644	64884644	C	T	MTHFD1	c.517C>T	NM_005956.3	NP_005947.3:p.(Arg173Cys)	NC_000014.8:g.64884644C>T	(Likely) pathogenic	1 lab	09e39e0249
2:48028185 MSH6 T>C	2	48028185	48028185	T	C	MSH6	c.3063T>C	NM_000179.2	NP_000170.1:p.(Ala1021=)	NC_000002.11:g.48028185T>C	(Likely) benign	1 lab	09e547ab0e
12:57963052 KIF5A C>T	12	57963052	57963052	C	T	KIF5A	c.833C>T	NM_004984.2	NP_004975.2:p.(Pro278Leu)	NC_000012.11:g.57963052C>T	(Likely) pathogenic	1 lab	09e8055f7a
7:2552835 LFNG G>A	7	2552835	2552835	G	A	LFNG	c.92G>A	NM_001166355.1	NP_001159827.1:p.(Trp31Ter)	NC_000007.13:g.2552835G>A	VUS	1 lab	5e4e474194
15:73616520 HCN4 T>G	15	73616520	73616520	T	G	HCN4	c.2053A>C	NM_005477.3	NP_005468.1:p.(Ser685Arg)	NC_000015.9:g.73616520T>G	VUS	1 lab	09e9e2d182
11:695681 TMEM80 G>A	11	695681	695681	G	A	TMEM80	c.-72G>A	NM_001042463.1	NP_001035928.1:p.?	NC_000011.9:g.695681G>A	VUS	1 lab	60e5a81f1a
19:45207324 CEACAM16 C>T	19	45207324	45207324	C	T	CEACAM16	c.419C>T	NM_001039213.4	NP_001034302.2:p.(Thr140Ile)	NC_000019.9:g.45207324C>T	VUS	1 lab	09ece0cf0c
19:49520335 LHB C>A	19	49520335	49520335	C	A	LHB	c.4G>T	NM_000894.2	NP_000885.1:p.(Glu2Ter)	NC_000019.9:g.49520335C>A	(Likely) pathogenic	1 lab	09ef2a274d
17:4802524 CHRNE C>CTCAAACA	17	4802524	4802531	C	CTCAAACA	CHRNE	c.1181_1187dup	NM_000080.3	NP_000071.1:p.(Glu396AspfsTer3)	NC_000017.10:g.4802525_4802531dup	(Likely) pathogenic	1 lab	09efaad303
8:43025783 HGSNAT C>T	8	43025783	43025783	C	T	HGSNAT	c.689C>T	NM_152419.3	NP_689632.2:p.(Thr230Met)	NC_000008.10:g.43025783C>T	(Likely) benign	1 lab	09f13b6657
X:41332798 NYX G>A	X	41332798	41332798	G	A	NYX	c.92G>A	NM_022567.2	NP_072089.1:p.(Cys31Tyr)	NC_000023.10:g.41332798G>A	(Likely) pathogenic	1 lab	09f2d98207
X:85213935 CHM AT>A	X	85213935	85213937	AT	A	CHM	c.749del	NM_000390.3	NP_000381.1:p.(Asn250MetfsTer41)	NC_000023.10:g.85213937del	(Likely) pathogenic	1 lab	09f75a23bc
5:112170789 APC T>TA	5	112170789	112170790	T	TA	APC	c.1885_1886insA	NM_000038.5	NP_000029.2:p.(Leu629TyrfsTer5)	NC_000005.9:g.112170789_112170790insA	(Likely) pathogenic	1 lab	09f7f1da35
8:61748728 CHD7 T>C	8	61748728	61748728	T	C	CHD7				NC_000008.10:g.61748728T>C	(Likely) pathogenic	1 lab	09f7fd9c86
19:6710785 C3 C>T	19	6710785	6710785	C	T	C3	c.1551G>A	NM_000064.3	NP_000055.2:p.(Leu517=)	NC_000019.9:g.6710785C>T	VUS	1 lab	09f922133a
5:38945776 RICTOR G>A	5	38945776	38945776	G	A	RICTOR	c.4522C>T	NM_001285439.1	NP_001272368.1:p.(Arg1508Ter)	NC_000005.9:g.38945776G>A	VUS	1 lab	09f932e22a
3:71026826 FOXP1 G>A	3	71026826	71026826	G	A	FOXP1	c.1396C>T	NM_032682.5	NP_116071.2:p.(Pro466Ser)	NC_000003.11:g.71026826G>A	(Likely) pathogenic	1 lab	09fbae0112
2:216295448 FN1 G>C	2	216295448	216295448	G	C	FN1	c.675C>G	NM_212482.2	NP_997647.1:p.(Cys225Trp)	NC_000002.11:g.216295448G>C	VUS	1 lab	09fc254f2f
11:113281489 DRD2 A>G	11	113281489	113281489	A	G	DRD2	c.1292T>C	NM_000795.3	NP_000786.1:p.(Ile431Thr)	NC_000011.9:g.113281489A>G	VUS	1 lab	09ff76cbd6
12:111350982 MYL2 T>C	12	111350982	111350982	T	C	MYL2	c.354-34A>G	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111350982T>C	(Likely) benign	1 lab	09ff79ffbf
2:71170807 ATP6V1B1 C>T	2	71170807	71170807	C	T	ATP6V1B1	c.138C>T	NM_001692.3	NP_001683.2:p.(Ser46=)	NC_000002.11:g.71170807C>T	(Likely) benign	1 lab	0a007529a3
3:124996636 ZNF148 A>C	3	124996636	124996636	A	C	ZNF148	c.601T>G	NM_021964.3	NP_068799.2:p.(Cys201Gly)	NC_000003.11:g.124996636A>C	VUS	1 lab	0a03fa97c5
X:99663549 PCDH19 C>T	X	99663549	99663549	C	T	PCDH19	c.47G>A	NM_001184880.1	NP_001171809.1:p.(Trp16Ter)	NC_000023.10:g.99663549C>T	(Likely) pathogenic	1 lab	0a066313bc
6:46048120 CLIC5 G>T	6	46048120	46048120	G	T	CLIC5				NC_000006.11:g.46048120G>T	(Likely) benign	1 lab	6c255721d3
13:20763420 GJB2 CAT>C	13	20763420	20763422	CAT	C	GJB2	c.299_300del	NM_004004.6	NP_003995.2:p.(His100ArgfsTer14)	NC_000013.10:g.20763421_20763422del	(Likely) pathogenic	1 lab	0a0964bb09
16:67645905 CTCF G>T	16	67645905	67645905	G	T	CTCF	c.833G>T	NM_006565.4	NP_006556.1:p.(Arg278Leu)	NC_000016.9:g.67645905G>T	VUS	1 lab	0a107facf2
18:44173583 LOXHD1 C>T	18	44173583	44173583	C	T	LOXHD1				NC_000018.9:g.44173583C>T	VUS	1 lab	0a1321028a
2:167089905 SCN9A C>T	2	167089905	167089905	C	T	SCN9A	c.3836G>A	NM_002977.3	NP_002968.1:p.(Arg1279Gln)	NC_000002.11:g.167089905C>T	VUS	1 lab	0a1589c6fa
11:6638559 TPP1 G>A	11	6638559	6638559	G	A	TPP1	c.481C>T	NM_000391.3	NP_000382.3:p.(Gln161Ter)	NC_000011.9:g.6638559G>A	(Likely) pathogenic	1 lab	0a166b193f
7:6026590 PMS2 G>A	7	6026590	6026590	G	A	PMS2	c.1806C>T	NM_000535.5	NP_000526.1:p.(Ala602=)	NC_000007.13:g.6026590G>A	(Likely) benign	1 lab	0a18894eb7
17:41223165 BRCA1 C>G	17	41223165	41223165	C	G	BRCA1	c.4766G>C	NM_007294.3	NP_009225.1:p.(Arg1589Pro)	NC_000017.10:g.41223165C>G	(Likely) benign	1 lab	0a1bcdf0f9
22:40552122 TNRC6B G>A	22	40552122	40552122	G	A	TNRC6B	c.49G>A	NM_001024843.1	NP_001020014.1:p.(Glu17Lys)	NC_000022.10:g.40552122G>A	(Likely) benign	1 lab	5e817ce6ec
X:55024853 PFKFB1 G>T	X	55024853	55024853	G	T	PFKFB1	c.14C>A	NM_001271805.1	NP_001258734.1:p.(Thr5Asn)	NC_000023.10:g.55024853G>T	VUS	1 lab	5e9217e836
1:94502293 ABCA4 T>C	1	94502293	94502293	T	C	ABCA4	c.3862+3A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94502293T>C	VUS	1 lab	0a21352623
14:29237488 FOXG1 C>G	14	29237488	29237488	C	G	FOXG1				NC_000014.8:g.29237488C>G	VUS	1 lab	0a2552e214
2:179644028 TTN G>T	2	179644028	179644028	G	T	TTN	c.3891C>A	NM_001267550.2	NP_001254479.2:p.(Ile1297=)	NC_000002.11:g.179644028G>T	(Likely) benign	1 lab	0a27b1594e
1:45799086 MUTYH C>T	1	45799086	45799086	C	T	MUTYH	c.347G>A	NM_001128425.1	NP_001121897.1:p.(Arg116Gln)	NC_000001.10:g.45799086C>T	(Likely) benign	1 lab	0a2eed4c81
22:20784109 SCARF2 G>T	22	20784109	20784109	G	T	SCARF2				NC_000022.10:g.20784109G>T	VUS	1 lab	1108a46b33
17:7918252 GUCY2D T>G	17	7918252	7918252	T	G	GUCY2D	c.2652T>G	NM_000180.3	NP_000171.1:p.(Ser884Arg)	NC_000017.10:g.7918252T>G	(Likely) pathogenic	1 lab	0a303bf991
2:227892583 COL4A4 T>C	2	227892583	227892583	T	C	COL4A4	c.4081+35A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227892583T>C	(Likely) benign	1 lab	0a306aee39
22:36691731 MYH9 G>A	22	36691731	36691731	G	A	MYH9	c.3305C>T	NM_002473.5	NP_002464.1:p.(Ala1102Val)	NC_000022.10:g.36691731G>A	VUS	1 lab	0a333d5f5c
1:156105688 LMNA T>TC	1	156105688	156105689	T	TC	LMNA	c.937-3dup	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105689dup	(Likely) benign	1 lab	0a35345663
12:80771813 OTOGL G>A	12	80771813	80771813	G	A	OTOGL	c.7020G>A	NM_173591.3	NP_775862.3:p.(Thr2340=)	NC_000012.11:g.80771813G>A	(Likely) benign	1 lab	0a361e875c
7:117188800 CFTR C>T	7	117188800	117188800	C	T	CFTR	c.1315C>T	NM_000492.4	NP_000483.3:p.(Pro439Ser)	NC_000007.13:g.117188800C>T	VUS	1 lab	0a3706534a
9:36276909 GNE T>C	9	36276909	36276909	T	C	GNE	c.33A>G	NM_001128227.2	NP_001121699.1:p.(Ser11=)	NC_000009.11:g.36276909T>C	VUS	1 lab	5f8cb803dc
1:216243614 USH2A GA>G	1	216243614	216243615	GA	G	USH2A	c.5877del	NM_206933.4	NP_996816.3:p.(Ser1961GlnfsTer6)	NC_000001.10:g.216243615del	(Likely) pathogenic	1 lab	0a3c890579
1:196973820 CFHR5 T>G	1	196973820	196973820	T	G	CFHR5	c.1360T>G	NM_030787.4	NP_110414.1:p.(Ser454Ala)	NC_000001.10:g.196973820T>G	(Likely) benign	1 lab	0a3e10f830
3:197420609 RUBCN T>C	3	197420609	197420609	T	C	RUBCN				NC_000003.11:g.197420609T>C	VUS	1 lab	0a3f48354a
4:48014977 CNGA1 A>C	4	48014977	48014977	A	C	CNGA1				NC_000004.11:g.48014977A>C	(Likely) benign	1 lab	0a41ab690c
2:48010472 MSH6 GC>G	2	48010472	48010474	GC	G	MSH6	c.102del	NM_000179.2	NP_000170.1:p.(Ala35ProfsTer46)	NC_000002.11:g.48010474del	(Likely) pathogenic	1 lab	0a41ad18ef
1:41304306 KCNQ4 A>G	1	41304306	41304306	A	G	KCNQ4	c.*111A>G	NM_004700.3	NP_004691.2:p.?	NC_000001.10:g.41304306A>G	(Likely) benign	1 lab	0a46204a19
5:112155046 APC G>C	5	112155046	112155046	G	C	APC	c.1312+5G>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155046G>C	(Likely) pathogenic	1 lab	0a4ba683ab
5:149277925 PDE6A C>G	5	149277925	149277925	C	G	PDE6A	c.1407+1G>C	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149277925C>G	(Likely) pathogenic	1 lab	0a4c4da185
2:158872387 UPP2 G>T	2	158872387	158872387	G	T	UPP2	c.136G>T	NM_001135098.1	NP_001128570.1:p.(Ala46Ser)	NC_000002.11:g.158872387G>T	(Likely) benign	1 lab	6019183a9d
1:3334520 PRDM16 C>T	1	3334520	3334520	C	T	PRDM16	c.2820C>T	NM_022114.3	NP_071397.3:p.(Ser940=)	NC_000001.10:g.3334520C>T	(Likely) benign	1 lab	0a533a6c45
11:13517679 PTH T>C	11	13517679	13517679	T	C	PTH	c.1A>G	NM_001316352.1	NP_001303281.1:p.(Met1?)	NC_000011.9:g.13517679T>C	VUS	1 lab	603b95335e
5:148421167 SH3TC2 G>T	5	148421167	148421167	G	T	SH3TC2				NC_000005.9:g.148421167G>T	(Likely) pathogenic	1 lab	0a54fc87fb
X:70341255 MED12 T>G	X	70341255	70341255	T	G	MED12	c.814T>G	NM_005120.2	NP_005111.2:p.(Leu272Val)	NC_000023.10:g.70341255T>G	VUS	1 lab	0a56c7229d
2:167055399 SCN9A A>G	2	167055399	167055399	A	G	SCN9A	c.5717T>C	NM_002977.3	NP_002968.1:p.(Ile1906Thr)	NC_000002.11:g.167055399A>G	(Likely) benign	1 lab	0a58a98b63
10:104596981 CYP17A1 G>A	10	104596981	104596981	G	A	CYP17A1	c.138C>T	NM_000102.3	NP_000093.1:p.(His46=)	NC_000010.10:g.104596981G>A	(Likely) benign	1 lab	0a58cf1585
17:7804024 MISSING C>T	17	7804024	7804024	C	T	MISSING				NC_000017.10:g.7804024C>T	(Likely) pathogenic	1 lab	0a5adf2e67
11:66469089 SPTBN2 G>A	11	66469089	66469089	G	A	SPTBN2	c.2782C>T	NM_006946.2	NP_008877.1:p.(Arg928Cys)	NC_000011.9:g.66469089G>A	VUS	1 lab	0a5bbf35ce
11:26210781 ANO3 C>T	11	26210781	26210781	C	T	ANO3	c.58C>T	NM_001313726.1	NP_001300655.1:p.(His20Tyr)	NC_000011.9:g.26210781C>T	(Likely) benign	1 lab	609b4df903
2:227973892 COL4A4 T>C	2	227973892	227973892	T	C	COL4A4	c.657+48A>G	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227973892T>C	(Likely) benign	1 lab	0a64d4364a
10:123279795 FGFR2 C>T	10	123279795	123279795	C	T	FGFR2	c.749-112G>A	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123279795C>T	(Likely) benign	1 lab	0a68528c00
2:58390654 FANCL T>C	2	58390654	58390654	T	C	FANCL	c.737-2A>G	NM_001374615.1	NP_001361544.1:p.?	NC_000002.11:g.58390654T>C	(Likely) pathogenic	1 lab	0a6ba224f3
X:30326954 NR0B1 T>C	X	30326954	30326954	T	C	NR0B1	c.527A>G	NM_000475.5	NP_000466.2:p.(Tyr176Cys)	NC_000023.10:g.30326954T>C	VUS	1 lab	0a6bee58a3
16:23543988 EARS2 C>A	16	23543988	23543988	C	A	EARS2	c.1057G>T	NM_001083614.2	NP_001077083.1:p.(Glu353Ter)	NC_000016.9:g.23543988C>A	(Likely) pathogenic	1 lab	0a6d14828e
22:21341831 LZTR1 A>T	22	21341831	21341831	A	T	LZTR1	c.359A>T	NM_006767.3	NP_006758.2:p.(His120Leu)	NC_000022.10:g.21341831A>T	(Likely) pathogenic	1 lab	0a6da4878d
2:47706881 MSH2 A>G	2	47706881	47706881	A	G	MSH2	c.2459-954A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47706881A>G	(Likely) pathogenic	1 lab	0a6e10ee38
10:26310597 MYO3A G>A	10	26310597	26310597	G	A	MYO3A	c.731+20G>A	NM_017433.4	NP_059129.3:p.?	NC_000010.10:g.26310597G>A	(Likely) benign	1 lab	0a6f25636c
11:121058540 TECTA G>A	11	121058540	121058540	G	A	TECTA	c.6000-1G>A	NM_005422.4	NP_005413.2:p.?	NC_000011.9:g.121058540G>A	(Likely) pathogenic	1 lab	0a7046fb50
2:200193591 SATB2 T>C	2	200193591	200193591	T	C	SATB2				NC_000002.11:g.200193591T>C	(Likely) benign	1 lab	0a709523fb
X:22186511 PHEX G>C	X	22186511	22186511	G	C	PHEX	c.1482+5G>C	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22186511G>C	(Likely) pathogenic	1 lab	0a73c92729
19:19627078 NDUFA13 C>T	19	19627078	19627078	C	T	NDUFA13	c.31C>T	NM_015965.6	NP_057049.5:p.(Pro11Ser)	NC_000019.9:g.19627078C>T	VUS	1 lab	0a7421c1dc
7:98529122 TRRAP A>G	7	98529122	98529122	A	G	TRRAP	c.3686A>G	NM_001244580.1	NP_001231509.1:p.(Glu1229Gly)	NC_000007.13:g.98529122A>G	VUS	1 lab	0a7aa2444a
7:128498697 FLNC A>AT	7	128498697	128498698	A	AT	FLNC	c.*120_*121insT	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128498697_128498698insT	(Likely) benign	1 lab	0a7bda729d
1:115256562 NRAS G>A	1	115256562	115256562	G	A	NRAS				NC_000001.10:g.115256562G>A	(Likely) pathogenic	1 lab	0a7f5226b6
12:57970103 KIF5A C>G	12	57970103	57970103	C	G	KIF5A	c.2140C>G	NM_004984.2	NP_004975.2:p.(Leu714Val)	NC_000012.11:g.57970103C>G	VUS	1 lab	0a7fef3129
11:118007823 SCN4B G>A	11	118007823	118007823	G	A	SCN4B	c.606C>T	NM_174934.4	NP_777594.1:p.(Leu202=)	NC_000011.9:g.118007823G>A	(Likely) benign	1 lab	0a88e7f9b5
2:26700501 OTOF G>A	2	26700501	26700501	G	A	OTOF	c.2315+16C>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26700501G>A	(Likely) benign	1 lab	0a895bf500
8:48866429 PRKDC T>C	8	48866429	48866429	T	C	PRKDC	c.559A>G	NM_006904.6	NP_008835.5:p.(Ser187Gly)	NC_000008.10:g.48866429T>C	VUS	1 lab	0a8b5cfad0
5:172659722 NKX2-5 G>A	5	172659722	172659722	G	A	NKX2-5	c.825C>T	NM_004387.3	NP_004378.1:p.(Pro275=)	NC_000005.9:g.172659722G>A	VUS	1 lab	0a8e01830c
1:237777915 RYR2 G>T	1	237777915	237777915	G	T	RYR2	c.5487G>T	NM_001035.2	NP_001026.2:p.(Leu1829=)	NC_000001.10:g.237777915G>T	(Likely) benign	1 lab	0a938c442a
7:27239298 HOXA13 C>CGCG	7	27239298	27239318	C	CGCG	HOXA13	c.396_398dup	NM_000522.5	NP_000513.2:p.(Ala133dup)	NC_000007.13:g.27239316_27239318dup	(Likely) benign	1 lab	000229e820
3:129155610 MBD4 C>A	3	129155610	129155610	C	A	MBD4	c.877G>T	NM_001276270.2	NP_001263199.1:p.(Ala293Ser)	NC_000003.11:g.129155610C>A	(Likely) benign	1 lab	0a964ce198
17:7127320 ACADVL C>G	17	7127320	7127320	C	G	ACADVL	c.1366C>G	NM_000018.3	NP_000009.1:p.(Arg456Gly)	NC_000017.10:g.7127320C>G	(Likely) pathogenic	1 lab	0a96c88504
5:138119016 CTNNA1 CT>C	5	138119016	138119017	CT	C	CTNNA1	c.257del	NM_001903.5	NP_001894.2:p.(Leu86ProfsTer9)	NC_000005.9:g.138119017del	(Likely) pathogenic	1 lab	0a97039171
14:23896329 MYH7 C>T	14	23896329	23896329	C	T	MYH7	c.1956+120G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23896329C>T	(Likely) benign	1 lab	0a98cd57df
17:62029074 SCN4A T>C	17	62029074	62029074	T	C	SCN4A	c.2563A>G	NM_000334.4	NP_000325.4:p.(Met855Val)	NC_000017.10:g.62029074T>C	VUS	1 lab	0a99bde379
2:167085334 SCN9A C>T	2	167085334	167085334	C	T	SCN9A	c.4040G>A	NM_002977.3	NP_002968.1:p.(Arg1347Gln)	NC_000002.11:g.167085334C>T	(Likely) benign	1 lab	0a9d6f174a
10:89692905 PTEN G>A	10	89692905	89692905	G	A	PTEN	c.389G>A	NM_000314.6	NP_000305.3:p.(Arg130Gln)	NC_000010.10:g.89692905G>A	(Likely) pathogenic	1 lab	0a9e4805db
9:134395545 POMT1 A>C	9	134395545	134395545	A	C	POMT1	c.1729A>C	NM_007171.3	NP_009102.3:p.(Thr577Pro)	NC_000009.11:g.134395545A>C	VUS	1 lab	0aa1ec72e9
11:108129829 ATM A>G	11	108129829	108129829	A	G	ATM	c.2466+27A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129829A>G	(Likely) benign	1 lab	0aa259fa60
19:1218384 STK11 C>T	19	1218384	1218384	C	T	STK11	c.291-32C>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1218384C>T	(Likely) benign	1 lab	0aa3f71a8a
X:152969476 BCAP31 G>A	X	152969476	152969476	G	A	BCAP31	c.616C>T	NM_001139457.2	NP_001132929.1:p.(Gln206Ter)	NC_000023.10:g.152969476G>A	(Likely) pathogenic	1 lab	0aa4a8891b
X:32305879 DMD A>AAT	X	32305879	32305894	A	AAT	DMD	c.6106-63_6106-62dup	NM_004009.3	NP_004000.1:p.?	NC_000023.10:g.32305893_32305894dup	(Likely) benign	1 lab	0aadaa802b
X:10109466 WWC3 C>T	X	10109466	10109466	C	T	WWC3	c.3213-9C>T	NM_015691.3	NP_056506.2:p.?	NC_000023.10:g.10109466C>T	(Likely) benign	1 lab	613fab28fb
17:16843103 TNFRSF13B TC>T	17	16843103	16843104	TC	T	TNFRSF13B	c.639del	NM_012452.3	NP_036584.1:p.(Met214TrpfsTer7)	NC_000017.10:g.16843104del	(Likely) pathogenic	1 lab	0ab1034a52
4:103504076 NFKB1 G>T	4	103504076	103504076	G	T	NFKB1	c.889G>T	NM_003998.3	NP_003989.2:p.(Gly297Ter)	NC_000004.11:g.103504076G>T	(Likely) pathogenic	1 lab	0ab600f44a
22:19754228 TBX1 T>C	22	19754228	19754228	T	C	TBX1	c.1353T>C	NM_001379200.1	NP_001366129.1:p.(Arg451=)	NC_000022.10:g.19754228T>C	(Likely) benign	1 lab	0ab9d40a61
2:165986510 SCN3A G>A	2	165986510	165986510	G	A	SCN3A	c.2862C>T	NM_006922.4	NP_008853.3:p.(Val954=)	NC_000002.11:g.165986510G>A	(Likely) benign	1 lab	0ac2bd5a50
3:47044484 NBEAL2 G>A	3	47044484	47044484	G	A	NBEAL2	c.5497G>A	NM_015175.2	NP_055990.1:p.(Glu1833Lys)	NC_000003.11:g.47044484G>A	(Likely) pathogenic	1 lab	0ac3a74194
11:117973850 TMPRSS4 C>A	11	117973850	117973850	C	A	TMPRSS4	c.192C>A	NM_019894.3	NP_063947.1:p.(Cys64Ter)	NC_000011.9:g.117973850C>A	VUS	1 lab	0ac3b58595
2:215593597 BARD1 C>T	2	215593597	215593597	C	T	BARD1	c.2137G>A	NM_000465.4	NP_000456.2:p.(Val713Met)	NC_000002.11:g.215593597C>T	VUS	1 lab	0ac499c95d
10:127462454 MMP21 C>T	10	127462454	127462454	C	T	MMP21	c.643G>A	NM_147191.1	NP_671724.1:p.(Glu215Lys)	NC_000010.10:g.127462454C>T	VUS	1 lab	0ac4f43f28
11:108236213 ATM C>T	11	108236213	108236213	C	T	ATM	c.9149C>T	NM_000051.3	NP_000042.3:p.(Pro3050Leu)	NC_000011.9:g.108236213C>T	(Likely) benign	1 lab	0ac5ac3f91
X:2871204 ARSE C>G	X	2871204	2871204	C	G	ARSE				NC_000023.10:g.2871204C>G	VUS	1 lab	0ac7e95609
1:241667452 FH C>T	1	241667452	241667452	C	T	FH	c.998G>A	NM_000143.3	NP_000134.2:p.(Cys333Tyr)	NC_000001.10:g.241667452C>T	(Likely) pathogenic	1 lab	0ac84a82f1
7:94294798 PEG10 C>T	7	94294798	94294798	C	T	PEG10	c.*952C>T	NM_001040152.1	NP_001035242.1:p.?	NC_000007.13:g.94294798C>T	VUS	1 lab	616c36c8a4
1:152283975 FLG A>G	1	152283975	152283975	A	G	FLG	c.3387T>C	NM_002016.1	NP_002007.1:p.(Ser1129=)	NC_000001.10:g.152283975A>G	(Likely) benign	1 lab	0acb1a25cb
2:228177479 COL4A3 C>T	2	228177479	228177479	C	T	COL4A3	c.*893C>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228177479C>T	(Likely) benign	1 lab	0acd17b586
2:74128391 ACTG2 G>C	2	74128391	74128391	G	C	ACTG2	c.-36-12G>C	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74128391G>C	(Likely) benign	1 lab	0acdd9d63b
2:179397423 TTN G>T	2	179397423	179397423	G	T	TTN	c.103919C>A	NM_001267550.2	NP_001254479.2:p.(Pro34640His)	NC_000002.11:g.179397423G>T	VUS	1 lab	0acec21f16
2:179659243 TTN C>T	2	179659243	179659243	C	T	TTN	c.1281G>A	NM_001267550.2	NP_001254479.2:p.(Ala427=)	NC_000002.11:g.179659243C>T	(Likely) benign	1 lab	0acfd4856a
20:42744491 JPH2 C>T	20	42744491	42744491	C	T	JPH2	c.1824G>A	NM_020433.4	NP_065166.2:p.(Thr608=)	NC_000020.10:g.42744491C>T	(Likely) benign	1 lab	0ad07ade7b
19:39070754 RYR1 C>G	19	39070754	39070754	C	G	RYR1	c.14497C>G	NM_000540.2	NP_000531.2:p.(His4833Asp)	NC_000019.9:g.39070754C>G	(Likely) pathogenic	1 lab	0ad15db023
12:88939524 KITLG C>T	12	88939524	88939524	C	T	KITLG	c.129+5G>A	NM_000899.5	NP_000890.1:p.?	NC_000012.11:g.88939524C>T	VUS	1 lab	0ad1f9ef6d
12:116446341 MED13L G>A	12	116446341	116446341	G	A	MED13L	c.1877C>T	NM_015335.4	NP_056150.1:p.(Pro626Leu)	NC_000012.11:g.116446341G>A	(Likely) benign	1 lab	0ad37d8d46
4:77676105 SHROOM3 C>G	4	77676105	77676105	C	G	SHROOM3	c.4469C>G	NM_020859.3	NP_065910.3:p.(Ser1490Cys)	NC_000004.11:g.77676105C>G	VUS	1 lab	0ad9a868c1
1:150532244 ADAMTSL4 G>C	1	150532244	150532244	G	C	ADAMTSL4	c.2951G>C	NM_019032.6	NP_061905.2:p.(Arg984Pro)	NC_000001.10:g.150532244G>C	VUS	1 lab	0adcc243e8
5:137727707 KDM3B A>T	5	137727707	137727707	A	T	KDM3B	c.2386A>T	NM_016604.3	NP_057688.2:p.(Arg796Trp)	NC_000005.9:g.137727707A>T	VUS	1 lab	0ae1cfb000
4:658015 PDE6B G>A	4	658015	658015	G	A	PDE6B				NC_000004.11:g.658015G>A	VUS	1 lab	0ae2c7f14d
11:108200971 ATM G>C	11	108200971	108200971	G	C	ATM	c.7338G>C	NM_000051.3	NP_000042.3:p.(Glu2446Asp)	NC_000011.9:g.108200971G>C	VUS	1 lab	0ae77064d9
15:25602101 UBE3A A>C	15	25602101	25602101	A	C	UBE3A	c.1763-58T>G	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25602101A>C	(Likely) benign	1 lab	1f1473cdde
4:186427776 PDLIM3 C>T	4	186427776	186427776	C	T	PDLIM3	c.693G>A	NM_014476.5	NP_055291.2:p.(Ser231=)	NC_000004.11:g.186427776C>T	(Likely) benign	1 lab	0ae921edf9
12:52100393 SCN8A G>A	12	52100393	52100393	G	A	SCN8A	c.1529G>A	NM_014191.4	NP_055006.1:p.(Gly510Glu)	NC_000012.11:g.52100393G>A	VUS	1 lab	0ae97dee7d
13:32930688 BRCA2 G>C	13	32930688	32930688	G	C	BRCA2	c.7559G>C	NM_000059.4	NP_000050.3:p.(Arg2520Pro)	NC_000013.10:g.32930688G>C	VUS	1 lab	0aeacf938f
2:73676589 MISSING CTG>C	2	73676589	73676591	CTG	C	MISSING				NC_000002.11:g.73676590_73676591del	(Likely) pathogenic	1 lab	0aeb9618b6
19:13482515 CACNA1A C>T	19	13482515	13482515	C	T	CACNA1A	c.618G>A	NM_001127222.2	NP_001120694.1:p.(Val206=)	NC_000019.9:g.13482515C>T	(Likely) benign	1 lab	0aee2842b2
14:23893268 MYH7 C>T	14	23893268	23893268	C	T	MYH7	c.2770G>A	NM_000257.4	NP_000248.2:p.(Glu924Lys)	NC_000014.8:g.23893268C>T	(Likely) pathogenic	1 lab	0aefd8ca10
5:112173590 APC C>T	5	112173590	112173590	C	T	APC	c.2299C>T	NM_000038.6	NP_000029.2:p.(Gln767Ter)	NC_000005.9:g.112173590C>T	(Likely) pathogenic	1 lab	0af11ed2ee
4:16000058 PROM1 C>A	4	16000058	16000058	C	A	PROM1	c.1632G>T	NM_006017.2	NP_006008.1:p.(Gly544=)	NC_000004.11:g.16000058C>A	VUS	1 lab	0af1e54591
X:71886002 PHKA1 T>C	X	71886002	71886002	T	C	PHKA1	c.863A>G	NM_002637.4	NP_002628.2:p.(Gln288Arg)	NC_000023.10:g.71886002T>C	VUS	1 lab	0af2894be5
X:101096065 NXF5 G>A	X	101096065	101096065	G	A	NXF5	n.763C>T	NR_028089.1		NC_000023.10:g.101096065G>A	VUS	1 lab	63dae119a8
2:179419748 TTN C>A	2	179419748	179419748	C	A	TTN	c.88438G>T	NM_001267550.2	NP_001254479.2:p.(Glu29480Ter)	NC_000002.11:g.179419748C>A	(Likely) pathogenic	1 lab	0af7748bef
2:220283444 DES A>G	2	220283444	220283444	A	G	DES	c.260A>G	NM_001927.3	NP_001918.3:p.(Glu87Gly)	NC_000002.11:g.220283444A>G	VUS	1 lab	0af86f3d2f
11:121028685 TECTA A>G	11	121028685	121028685	A	G	TECTA				NC_000011.9:g.121028685A>G	VUS	1 lab	5f82cee7bc
10:73570334 CDH23 G>A	10	73570334	73570334	G	A	CDH23	c.9077+8G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73570334G>A	(Likely) benign	1 lab	0af94beeeb
2:45169478 SIX3 A>G	2	45169478	45169478	A	G	SIX3	c.235A>G	NM_005413.3	NP_005404.1:p.(Met79Val)	NC_000002.11:g.45169478A>G	(Likely) pathogenic	1 lab	0afa421d54
1:43395707 SLC2A1 C>A	1	43395707	43395707	C	A	SLC2A1	c.517-1G>T	NM_006516.2	NP_006507.2:p.?	NC_000001.10:g.43395707C>A	(Likely) pathogenic	1 lab	0afad458b1
9:75406910 TMC1 C>T	9	75406910	75406910	C	T	TMC1	c.1333C>T	NM_138691.2	NP_619636.2:p.(Arg445Cys)	NC_000009.11:g.75406910C>T	(Likely) pathogenic	1 lab	0b1ac03a57
X:105937254 RNF128 AGTTTTTT>A	X	105937254	105937261	AGTTTTTT	A	RNF128	c.23_29del	NM_024539.3	NP_078815.3:p.(Ser8IlefsTer5)	NC_000023.10:g.105937255_105937261del	VUS	1 lab	63dce4de16
12:6080848 VWF C>T	12	6080848	6080848	C	T	VWF	c.7465G>A	NM_000552.3	NP_000543.2:p.(Glu2489Lys)	NC_000012.11:g.6080848C>T	VUS	1 lab	0afcca5d12
3:121168191 POLQ T>C	3	121168191	121168191	T	C	POLQ	c.7235A>G	NM_199420.3	NP_955452.3:p.(Tyr2412Cys)	NC_000003.11:g.121168191T>C	VUS	1 lab	0afdc0be03
19:50342062 MED25 A>G	19	50342062	50342062	A	G	MED25	c.2372A>G	NM_001378355.1	NP_001365284.1:p.(Lys791Arg)	NC_000019.9:g.50342062A>G	VUS	1 lab	63e43cd01b
17:4801994 CHRNE C>T	17	4801994	4801994	C	T	CHRNE	c.*37G>A	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4801994C>T	(Likely) benign	1 lab	0b00a1e12e
17:7578461 TP53 C>A	17	7578461	7578461	C	A	TP53				NC_000017.10:g.7578461C>A	(Likely) pathogenic	1 lab	0b00c9c037
17:7810256 CHD3 T>G	17	7810256	7810256	T	G	CHD3	c.4750T>G	NM_001005271.2	NP_001005271.2:p.(Ser1584Ala)	NC_000017.10:g.7810256T>G	(Likely) benign	1 lab	0b00dc4526
3:38888417 SCN11A T>C	3	38888417	38888417	T	C	SCN11A	c.5144A>G	NM_001287223.1	NP_001274152.1:p.(Asn1715Ser)	NC_000003.11:g.38888417T>C	VUS	1 lab	0b0d4fc1a3
19:6678007 C3 A>G	19	6678007	6678007	A	G	C3	c.4878T>C	NM_000064.2	NP_000055.2:p.(Thr1626=)	NC_000019.9:g.6678007A>G	VUS	1 lab	0b10f7e571
16:86544917 FOXF1 C>G	16	86544917	86544917	C	G	FOXF1	c.742C>G	NM_001451.2	NP_001442.2:p.(Leu248Val)	NC_000016.9:g.86544917C>G	(Likely) pathogenic	1 lab	0b11064e8b
2:167055582 SCN9A A>G	2	167055582	167055582	A	G	SCN9A	c.5534T>C	NM_002977.3	NP_002968.1:p.(Met1845Thr)	NC_000002.11:g.167055582A>G	VUS	1 lab	0b121194c4
22:25627604 CRYBB2 G>A	22	25627604	25627604	G	A	CRYBB2	c.483G>A	NM_000496.2	NP_000487.1:p.(Gly161=)	NC_000022.10:g.25627604G>A	(Likely) benign	1 lab	0b1227c66f
5:161580318 GABRG2 C>T	5	161580318	161580318	C	T	GABRG2	c.1492C>T	NM_198903.2	NP_944493.2:p.(Pro498Ser)	NC_000005.9:g.161580318C>T	VUS	1 lab	0b12669001
11:47355569 MYBPC3 T>G	11	47355569	47355569	T	G	MYBPC3	c.2906-8A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355569T>G	(Likely) benign	1 lab	0b151759ed
4:55956233 KDR C>T	4	55956233	55956233	C	T	KDR	c.3082G>A	NM_002253.4	NP_002244.1:p.(Asp1028Asn)	NC_000004.11:g.55956233C>T	(Likely) pathogenic	1 lab	0b18aadbf0
10:71048503 HK1 G>A	10	71048503	71048503	G	A	HK1	c.4G>A	NM_001322364.1	NP_001309293.1:p.(Gly2Arg)	NC_000010.10:g.71048503G>A	VUS	1 lab	6488d68d7e
X:10085184 WWC3 C>T	X	10085184	10085184	C	T	WWC3	c.1085C>T	NM_015691.3	NP_056506.2:p.(Thr362Met)	NC_000023.10:g.10085184C>T	VUS	1 lab	64c6389b92
12:110236673 TRPV4 T>C	12	110236673	110236673	T	C	TRPV4	c.898A>G	NM_021625.4	NP_067638.3:p.(Ile300Val)	NC_000012.11:g.110236673T>C	VUS	1 lab	0b1cc8576d
2:167262746 SCN7A C>T	2	167262746	167262746	C	T	SCN7A	c.4393G>A	NM_002976.4	NP_002967.2:p.(Asp1465Asn)	NC_000002.11:g.167262746C>T	(Likely) benign	1 lab	0b1fdcd78f
6:74345200 SLC17A5 GA>G	6	74345200	74345203	GA	G	SLC17A5	c.723del	NM_012434.5	NP_036566.1:p.(Leu242PhefsTer6)	NC_000006.11:g.74345203del	(Likely) pathogenic	1 lab	0b249188e0
3:3170756 TRNT1 CAGTGCTGAACCGTA>C	3	3170756	3170770	CAGTGCTGAACCGTA	C	TRNT1	c.33_46del	NM_182916.2	NP_886552.2:p.(Leu13GlufsTer2)	NC_000003.11:g.3170757_3170770del	(Likely) pathogenic	1 lab	0b27d02d7a
16:731812 STUB1 C>T	16	731812	731812	C	T	STUB1	c.544C>T	NM_005861.4	NP_005852.2:p.(Arg182Ter)	NC_000016.9:g.731812C>T	(Likely) pathogenic	1 lab	0b27ddd48c
1:155880271 RIT1 G>C	1	155880271	155880271	G	C	RIT1	c.184C>G	NM_001256821.1	NP_001243750.1:p.(Arg62Gly)	NC_000001.10:g.155880271G>C	(Likely) benign	1 lab	0b297c66f3
1:94546265 ABCA4 G>A	1	94546265	94546265	G	A	ABCA4	c.868C>T	NM_000350.2	NP_000341.2:p.(Arg290Trp)	NC_000001.10:g.94546265G>A	(Likely) pathogenic	1 lab	0b2a845843
5:90107050 ADGRV1 C>T	5	90107050	90107050	C	T	ADGRV1	c.15973C>T	NM_032119.3	NP_115495.3:p.(Gln5325Ter)	NC_000005.9:g.90107050C>T	(Likely) pathogenic	1 lab	0b2acdb104
2:48030643 MSH6 C>T	2	48030643	48030643	C	T	MSH6	c.3257C>T	NM_000179.3	NP_000170.1:p.(Pro1086Leu)	NC_000002.11:g.48030643C>T	VUS	1 lab	0b2cb4feac
9:133914556 LAMC3 G>A	9	133914556	133914556	G	A	LAMC3	c.1204G>A	NM_006059.3	NP_006050.3:p.(Ala402Thr)	NC_000009.11:g.133914556G>A	VUS	1 lab	0b31cf4850
1:26764704 DHDDS C>T	1	26764704	26764704	C	T	DHDDS	c.109C>T	NM_024887.3	NP_079163.2:p.(Arg37Cys)	NC_000001.10:g.26764704C>T	(Likely) pathogenic	1 lab	0b35512eb8
12:110230201 TRPV4 C>T	12	110230201	110230201	C	T	TRPV4	c.1858G>A	NM_021625.4	NP_067638.3:p.(Val620Ile)	NC_000012.11:g.110230201C>T	(Likely) pathogenic	1 lab	0b3c6bcfdc
21:44838413 SIK1 C>G	21	44838413	44838413	C	G	SIK1	c.1471G>C	NM_173354.5	NP_775490.2:p.(Val491Leu)	NC_000021.8:g.44838413C>G	(Likely) benign	1 lab	000ba6771e
X:10085625 WWC3 A>G	X	10085625	10085625	A	G	WWC3	c.1526A>G	NM_015691.3	NP_056506.2:p.(Glu509Gly)	NC_000023.10:g.10085625A>G	(Likely) benign	1 lab	64f935f58b
2:47630440 MSH2 T>C	2	47630440	47630440	T	C	MSH2	c.110T>C	NM_000251.2	NP_000242.1:p.(Phe37Ser)	NC_000002.11:g.47630440T>C	VUS	1 lab	0b3e3cad8d
7:104719292 KMT2E G>A	7	104719292	104719292	G	A	KMT2E	c.1131-1G>A	NM_182931.2	NP_891847.1:p.?	NC_000007.13:g.104719292G>A	(Likely) pathogenic	1 lab	0b3ebe5fbe
1:169510139 F5 G>A	1	169510139	169510139	G	A	F5	c.4189C>T	NM_000130.4	NP_000121.2:p.(Leu1397Phe)	NC_000001.10:g.169510139G>A	(Likely) benign	1 lab	0b3f18eb41
2:108609517 SLC5A7 G>A	2	108609517	108609517	G	A	SLC5A7	c.382G>A	NM_021815.5	NP_068587.1:p.(Gly128Arg)	NC_000002.11:g.108609517G>A	VUS	1 lab	0b451700e7
3:121712730 ILDR1 A>C	3	121712730	121712730	A	C	ILDR1	c.866T>G	NM_001199799.2	NP_001186728.1:p.(Leu289Trp)	NC_000003.11:g.121712730A>C	VUS	1 lab	0b47f576e6
19:50138880 RRAS T>C	19	50138880	50138880	T	C	RRAS	c.610A>G	NM_006270.4	NP_006261.1:p.(Ser204Gly)	NC_000019.9:g.50138880T>C	VUS	1 lab	0b4859cc72
6:32805819 TAP2 T>C	6	32805819	32805819	T	C	TAP2	c.192A>G	NM_018833.2	NP_061313.2:p.(Thr64=)	NC_000006.11:g.32805819T>C	(Likely) benign	1 lab	0013f02b30
19:6712509 C3 C>T	19	6712509	6712509	C	T	C3	c.1119+10G>A	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6712509C>T	(Likely) benign	1 lab	0b4e5d1eed
4:101961622 PPP3CA A>G	4	101961622	101961622	A	G	PPP3CA	c.1241+17T>C	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.101961622A>G	(Likely) benign	1 lab	001513963f
12:49433111 KMT2D T>C	12	49433111	49433111	T	C	KMT2D	c.8260A>G	NM_003482.3	NP_003473.3:p.(Ser2754Gly)	NC_000012.11:g.49433111T>C	(Likely) benign	1 lab	001514f1b5
1:17086744 MST1L C>A	1	17086744	17086744	C	A	MST1L	c.499G>T	NM_001271733.1	NP_001258662.1:p.(Glu167Ter)	NC_000001.10:g.17086744C>A	(Likely) benign	1 lab	6644819f7e
5:112175925 APC CA>C	5	112175925	112175928	CA	C	APC	c.4637del	NM_000038.6	NP_000029.2:p.(Asn1546MetfsTer19)	NC_000005.9:g.112175928del	(Likely) pathogenic	1 lab	0b5353b4de
7:101925999 CUX1 G>C	7	101925999	101925999	G	C	CUX1	c.1855-5G>C	NM_001202544.1	NP_001189473.1:p.?	NC_000007.13:g.101925999G>C	(Likely) benign	1 lab	6657df03b1
2:165947256 SCN3A C>T	2	165947256	165947256	C	T	SCN3A	c.5407G>A	NM_006922.4	NP_008853.3:p.(Asp1803Asn)	NC_000002.11:g.165947256C>T	(Likely) benign	1 lab	0b549aea00
10:43617454 RET C>A	10	43617454	43617454	C	A	RET	c.2791C>A	NM_020975.4	NP_066124.1:p.(Gln931Lys)	NC_000010.10:g.43617454C>A	VUS	1 lab	0b58f46c76
X:128691322 OCRL CAG>C	X	128691322	128691324	CAG	C	OCRL	c.260_261del	NM_000276.3	NP_000267.2:p.(Gln87ArgfsTer10)	NC_000023.10:g.128691323_128691324del	(Likely) pathogenic	1 lab	0b5c646214
19:36321994 NPHS1 G>A	19	36321994	36321994	G	A	NPHS1	c.3442C>T	NM_004646.3	NP_004637.1:p.(Gln1148Ter)	NC_000019.9:g.36321994G>A	(Likely) pathogenic	1 lab	0b5c926066
2:47710205 MSH2 A>G	2	47710205	47710205	A	G	MSH2	c.*117A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47710205A>G	(Likely) benign	1 lab	0b603c8ea4
13:28239944 POLR1D A>G	13	28239944	28239944	A	G	POLR1D	c.139A>G	NM_001206559.1	NP_001193488.1:p.(Ser47Gly)	NC_000013.10:g.28239944A>G	VUS	1 lab	66e0df57e2
1:94495034 ABCA4 G>A	1	94495034	94495034	G	A	ABCA4	c.4506C>T	NM_000350.2	NP_000341.2:p.(Cys1502=)	NC_000001.10:g.94495034G>A	(Likely) benign	1 lab	0b6590ce1f
1:160098583 ATP1A2 G>A	1	160098583	160098583	G	A	ATP1A2	c.1159G>A	NM_000702.3	NP_000693.1:p.(Ala387Thr)	NC_000001.10:g.160098583G>A	(Likely) pathogenic	1 lab	0b6b696102
8:133175736 KCNQ3 T>C	8	133175736	133175736	T	C	KCNQ3	c.1241A>G	NM_004519.4	NP_004510.1:p.(Glu414Gly)	NC_000008.10:g.133175736T>C	(Likely) benign	1 lab	0017f7843a
16:21690225 OTOA C>A	16	21690225	21690225	C	A	OTOA				NC_000016.9:g.21690225C>A	(Likely) benign	1 lab	5fafdedc8b
16:2160503 PKD1 T>G	16	2160503	2160503	T	G	PKD1	c.4665A>C	NM_001009944.2	NP_001009944.2:p.(Ala1555=)	NC_000016.9:g.2160503T>G	(Likely) benign	1 lab	0b71f6d9ec
X:140335680 SPANXC C>T	X	140335680	140335680	C	T	SPANXC	c.264G>A	NM_022661.2	NP_073152.1:p.(Met88Ile)	NC_000023.10:g.140335680C>T	VUS	1 lab	670533a989
8:11606586 GATA4 C>T	8	11606586	11606586	C	T	GATA4	c.778C>T	NM_001308093.1	NP_001295022.1:p.(Arg260Cys)	NC_000008.10:g.11606586C>T	VUS	1 lab	0b72c2b73b
3:37055921 MLH1 A>G	3	37055921	37055921	A	G	MLH1	c.678-2A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37055921A>G	(Likely) pathogenic	1 lab	0b73939f1a
17:79478531 ACTG1 G>A	17	79478531	79478531	G	A	ACTG1	c.485C>T	NM_001614.3	NP_001605.1:p.(Thr162Met)	NC_000017.10:g.79478531G>A	VUS	1 lab	0b754092f3
11:128781290 KCNJ5 G>A	11	128781290	128781290	G	A	KCNJ5	c.122G>A	NM_000890.5	NP_000881.3:p.(Arg41His)	NC_000011.9:g.128781290G>A	(Likely) benign	1 lab	0b78dfd08e
19:6696675 C3 G>A	19	6696675	6696675	G	A	C3	c.2797-5C>T	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6696675G>A	VUS	1 lab	0b7bf796b1
17:44949931 WNT9B G>A	17	44949931	44949931	G	A	WNT9B	c.126G>A	NM_003396.3	NP_003387.1:p.(Ala42=)	NC_000017.10:g.44949931G>A	(Likely) benign	1 lab	00197bade2
16:2140146 PKD1 G>A	16	2140146	2140146	G	A	PKD1	c.12494C>T	NM_001009944.2	NP_001009944.2:p.(Ser4165Phe)	NC_000016.9:g.2140146G>A	VUS	1 lab	001b9fd996
7:75692927 MDH2 C>T	7	75692927	75692927	C	T	MDH2	c.633+17C>T	NM_005918.4	NP_005909.2:p.?	NC_000007.13:g.75692927C>T	(Likely) benign	1 lab	0b7f59d652
2:240011717 HDAC4 T>C	2	240011717	240011717	T	C	HDAC4	c.2361A>G	NM_006037.3	NP_006028.2:p.(Thr787=)	NC_000002.11:g.240011717T>C	(Likely) benign	1 lab	0b80bd58c7
17:41243630 BRCA1 CAA>C	17	41243630	41243632	CAA	C	BRCA1	c.3916_3917del	NM_007294.4	NP_009225.1:p.(Leu1306AspfsTer23)	NC_000017.10:g.41243631_41243632del	(Likely) pathogenic	1 lab	0b8164b782
6:33133734 COL11A2 C>T	6	33133734	33133734	C	T	COL11A2	c.4456G>A	NM_080680.2	NP_542411.2:p.(Gly1486Ser)	NC_000006.11:g.33133734C>T	(Likely) pathogenic	1 lab	0b819736c4
2:26686364 OTOF G>A	2	26686364	26686364	G	A	OTOF				NC_000002.11:g.26686364G>A	VUS	1 lab	0b82ea75ff
16:15839039 MYH11 A>T	16	15839039	15839039	A	T	MYH11	c.2488T>A	NM_001040113.1	NP_001035202.1:p.(Cys830Ser)	NC_000016.9:g.15839039A>T	VUS	1 lab	0b837b9980
13:20763735 GJB2 G>A	13	20763735	20763735	G	A	GJB2	c.-15C>T	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20763735G>A	(Likely) benign	1 lab	0b869e8ebe
15:40831444 CCDC32 G>A	15	40831444	40831444	G	A	CCDC32	c.402-6943C>T	NM_001289132.1	NP_001276061.1:p.?	NC_000015.9:g.40831444G>A	VUS	1 lab	68f536aef5
22:30070859 NF2 C>T	22	30070859	30070859	C	T	NF2	c.1375C>T	NM_000268.4	NP_000259.1:p.(Gln459Ter)	NC_000022.10:g.30070859C>T	(Likely) pathogenic	1 lab	0b89cce225
16:88873798 CDT1 G>A	16	88873798	88873798	G	A	CDT1	c.1385G>A	NM_030928.3	NP_112190.2:p.(Arg462Gln)	NC_000016.9:g.88873798G>A	(Likely) pathogenic	1 lab	0b8adecae9
7:72339511 SPDYE7P A>C	7	72339511	72339511	A	C	SPDYE7P	n.941T>G	NR_168484.1		NC_000007.13:g.72339511A>C	VUS	1 lab	694e483da9
1:16890681 NBPF1 C>G	1	16890681	16890681	C	G	NBPF1	c.4221G>C	NM_001405667.2	NP_001392596.1:p.(Arg1407Ser)	NC_000001.10:g.16890681C>G	(Likely) benign	1 lab	69641479b4
17:59760679 BRIP1 C>T	17	59760679	59760679	C	T	BRIP1	c.3728G>A	NM_032043.3	NP_114432.2:p.(Gly1243Asp)	NC_000017.10:g.59760679C>T	VUS	1 lab	0b8f088437
11:120983883 TECTA G>A	11	120983883	120983883	G	A	TECTA				NC_000011.9:g.120983883G>A	VUS	1 lab	0b96e4f55c
16:28975074 NFATC2IP C>A	16	28975074	28975074	C	A	NFATC2IP	c.1150C>A	NM_032815.3	NP_116204.3:p.(Leu384Met)	NC_000016.9:g.28975074C>A	VUS	1 lab	0b9760b4b8
3:49759301 GMPPB C>G	3	49759301	49759301	C	G	GMPPB	c.1048G>C	NM_013334.3	NP_037466.2:p.(Val350Leu)	NC_000003.11:g.49759301C>G	(Likely) benign	1 lab	0b980094a1
17:29559203 NF1 CT>C	17	29559203	29559205	CT	C	NF1	c.3312del	NM_001042492.3	NP_001035957.1:p.(Lys1105AsnfsTer7)	NC_000017.10:g.29559205del	(Likely) pathogenic	1 lab	0b9ac62ee5
2:74597159 DCTN1 A>C	2	74597159	74597159	A	C	DCTN1	c.1325T>G	NM_004082.5	NP_004073.2:p.(Met442Arg)	NC_000002.11:g.74597159A>C	VUS	1 lab	0b9ae55e03
2:179611922 TTN T>G	2	179611922	179611922	T	G	TTN	c.11312-5274A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611922T>G	(Likely) benign	1 lab	0b9bcda187
12:6132054 VWF G>A	12	6132054	6132054	G	A	VWF	c.3390C>T	NM_000552.3	NP_000543.2:p.(Cys1130=)	NC_000012.11:g.6132054G>A	(Likely) pathogenic	1 lab	0b9dabe2e5
X:107930784 COL4A5 C>T	X	107930784	107930784	C	T	COL4A5	c.4388C>T	NM_033380.2	NP_203699.1:p.(Ser1463Phe)	NC_000023.10:g.107930784C>T	VUS	1 lab	0ba0381007
6:108230228 SEC63 C>T	6	108230228	108230228	C	T	SEC63	c.636G>A	NM_007214.5	NP_009145.1:p.(Trp212Ter)	NC_000006.11:g.108230228C>T	(Likely) pathogenic	1 lab	0ba6bc711c
14:23867927 MYH6 G>A	14	23867927	23867927	G	A	MYH6	c.1891+10C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23867927G>A	VUS	1 lab	0baa035769
7:111451929 DOCK4 C>A	7	111451929	111451929	C	A	DOCK4	c.3006+1G>T	NM_014705.3	NP_055520.3:p.?	NC_000007.13:g.111451929C>A	VUS	1 lab	0babac5a10
3:125650591 ALG1L1P C>T	3	125650591	125650591	C	T	ALG1L1P	c.165G>A	NM_001015050.2	NP_001015050.2:p.(Ser55=)	NC_000003.11:g.125650591C>T	VUS	1 lab	69ae733657
7:149490526 SSPOP A>G	7	149490526	149490526	A	G	SSPOP	n.6298A>G	NR_163594.1		NC_000007.13:g.149490526A>G	VUS	1 lab	69fd05e31c
8:61763590 CHD7 G>T	8	61763590	61763590	G	T	CHD7				NC_000008.10:g.61763590G>T	(Likely) pathogenic	1 lab	0bb94e1a5a
11:47368941 MYBPC3 C>T	11	47368941	47368941	C	T	MYBPC3	c.905+36G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368941C>T	(Likely) benign	1 lab	0bbf0c28c5
3:124458874 UMPS G>A	3	124458874	124458874	G	A	UMPS	c.986G>A	NM_000373.3	NP_000364.1:p.(Gly329Asp)	NC_000003.11:g.124458874G>A	(Likely) pathogenic	1 lab	0bc1f40171
11:47353764 MYBPC3 C>T	11	47353764	47353764	C	T	MYBPC3	c.3673G>A	NM_000256.3	NP_000247.2:p.(Ala1225Thr)	NC_000011.9:g.47353764C>T	VUS	1 lab	0bc1ff446f
18:33767479 MOCOS G>A	18	33767479	33767479	G	A	MOCOS				NC_000018.9:g.33767479G>A	(Likely) benign	1 lab	0bc5beeb29
2:26417450 HADHA G>A	2	26417450	26417450	G	A	HADHA	c.1678C>T	NM_000182.5	NP_000173.2:p.(Arg560Ter)	NC_000002.11:g.26417450G>A	(Likely) pathogenic	1 lab	0bc94232c7
19:42482209 ATP1A3 C>T	19	42482209	42482209	C	T	ATP1A3	c.1822G>A	NM_152296.4	NP_689509.1:p.(Gly608Ser)	NC_000019.9:g.42482209C>T	VUS	1 lab	0bca566afd
1:241669434 FH G>T	1	241669434	241669434	G	T	FH				NC_000001.10:g.241669434G>T	(Likely) pathogenic	1 lab	0bca98362e
19:917526 KISS1R A>G	19	917526	917526	A	G	KISS1R	c.24A>G	NM_032551.4	NP_115940.2:p.(Gly8=)	NC_000019.9:g.917526A>G	(Likely) benign	1 lab	0bd18e0089
11:62638310 SLC3A2 GTAA>G	11	62638310	62638329	GTAA	G	SLC3A2	c.113-722_113-720del	NM_001012662.2	NP_001012680.1:p.?	NC_000011.9:g.62638327_62638329del	VUS	1 lab	6a8d47dc95
7:6043405 PMS2 G>C	7	6043405	6043405	G	C	PMS2	c.269C>G	NM_000535.7	NP_000526.2:p.(Ser90Cys)	NC_000007.13:g.6043405G>C	VUS	1 lab	0bd4f130da
1:200957452 KIF21B G>A	1	200957452	200957452	G	A	KIF21B	c.3380C>T	NM_001252102.2	NP_001239031.1:p.(Ser1127Phe)	NC_000001.10:g.200957452G>A	VUS	1 lab	0bda2f2044
2:228173726 COL4A3 C>T	2	228173726	228173726	C	T	COL4A3	c.4574C>T	NM_000091.4	NP_000082.2:p.(Thr1525Ile)	NC_000002.11:g.228173726C>T	VUS	1 lab	0bdbe16174
10:298394 ZMYND11 G>C	10	298394	298394	G	C	ZMYND11	c.1793G>C	NM_006624.7	NP_006615.2:p.(Cys598Ser)	NC_000010.10:g.298394G>C	(Likely) pathogenic	1 lab	0bdc855ba0
2:47698384 MSH2 G>A	2	47698384	47698384	G	A	MSH2	c.1759+183G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698384G>A	(Likely) benign	1 lab	0bdf0092b9
8:96281590 CFAP418-AS1 G>C	8	96281590	96281590	G	C	CFAP418-AS1	n.55+472G>C	NR_038201.1		NC_000008.10:g.96281590G>C	(Likely) benign	1 lab	6beee4dc31
3:38891990 SCN11A C>T	3	38891990	38891990	C	T	SCN11A	c.4309G>A	NM_014139.3	NP_054858.2:p.(Val1437Met)	NC_000003.11:g.38891990C>T	VUS	1 lab	0be69bfa0c
X:100668032 HNRNPH2 G>A	X	100668032	100668032	G	A	HNRNPH2	c.1056G>A	NM_019597.4	NP_062543.1:p.(Met352Ile)	NC_000023.10:g.100668032G>A	VUS	1 lab	0be8e4a26b
11:65321792 LTBP3 A>C	11	65321792	65321792	A	C	LTBP3	c.391T>G	NM_001130144.2	NP_001123616.1:p.(Cys131Gly)	NC_000011.9:g.65321792A>C	VUS	1 lab	0bed42b724
16:51175691 SALL1 C>CG	16	51175691	51175693	C	CG	SALL1	c.441dup	NM_002968.2	NP_002959.2:p.(Ala148ArgfsTer122)	NC_000016.9:g.51175693dup	(Likely) pathogenic	1 lab	0bedda95d7
5:160973805 GABRB2 G>T	5	160973805	160973805	G	T	GABRB2	c.-152-4C>A	NM_000813.2	NP_000804.1:p.?	NC_000005.9:g.160973805G>T	VUS	1 lab	6cbbcbeeaa
18:29115320 DSG2 A>G	18	29115320	29115320	A	G	DSG2	c.1368A>G	NM_001943.5	NP_001934.2:p.(Glu456=)	NC_000018.9:g.29115320A>G	(Likely) benign	1 lab	0bf584ab2c
5:1264550 TERT G>A	5	1264550	1264550	G	A	TERT	c.2812C>T	NM_198253.2	NP_937983.2:p.(Arg938Trp)	NC_000005.9:g.1264550G>A	VUS	1 lab	0bf607de1e
12:6128641 VWF G>A	12	6128641	6128641	G	A	VWF	c.3943C>T	NM_000552.3	NP_000543.2:p.(Arg1315Cys)	NC_000012.11:g.6128641G>A	(Likely) pathogenic	1 lab	0bfd70a659
15:66995859 SMAD6 G>GC	15	66995859	66995865	G	GC	SMAD6	c.269dup	NM_005585.4	NP_005576.3:p.(Arg91GlufsTer30)	NC_000015.9:g.66995865dup	(Likely) pathogenic	1 lab	0c07b6930f
17:7127673 ACADVL C>T	17	7127673	7127673	C	T	ACADVL	c.1566C>T	NM_000018.3	NP_000009.1:p.(Ser522=)	NC_000017.10:g.7127673C>T	(Likely) benign	1 lab	0c0a6673d8
6:42689574 PRPH2 C>T	6	42689574	42689574	C	T	PRPH2	c.499G>A	NM_000322.4	NP_000313.2:p.(Gly167Ser)	NC_000006.11:g.42689574C>T	(Likely) pathogenic	1 lab	0c0c937274
2:48914688 LHCGR A>G	2	48914688	48914688	A	G	LHCGR	c.*148T>C	NM_000233.3	NP_000224.2:p.?	NC_000002.11:g.48914688A>G	(Likely) benign	1 lab	0c0d10b293
3:123014951 ADCY5 C>T	3	123014951	123014951	C	T	ADCY5	c.3043G>A	NM_183357.2	NP_899200.1:p.(Asp1015Asn)	NC_000003.11:g.123014951C>T	VUS	1 lab	0c0ecb730a
3:151160936 IGSF10 T>TGTAA	3	151160936	151160941	T	TGTAA	IGSF10	c.5795_5798dup	NM_178822.5	NP_849144.2:p.(Met1934TyrfsTer20)	NC_000003.11:g.151160938_151160941dup	(Likely) benign	1 lab	0c10fc715c
2:179569336 TTN G>A	2	179569336	179569336	G	A	TTN	c.29863C>T	NM_001267550.2	NP_001254479.2:p.(Arg9955Ter)	NC_000002.11:g.179569336G>A	VUS	1 lab	0c12bf4049
17:56770145 RAD51C C>T	17	56770145	56770145	C	T	RAD51C	c.141C>T	NM_058216.3	NP_478123.1:p.(Ser47=)	NC_000017.10:g.56770145C>T	(Likely) benign	1 lab	0c15c940ec
19:35775846 HAMP G>A	19	35775846	35775846	G	A	HAMP	c.156G>A	NM_021175.4	NP_066998.1:p.(Met52Ile)	NC_000019.9:g.35775846G>A	(Likely) benign	1 lab	0c197c496e
10:112745499 SHOC2 C>G	10	112745499	112745499	C	G	SHOC2	c.817C>G	NM_007373.4	NP_031399.2:p.(Leu273Val)	NC_000010.10:g.112745499C>G	VUS	1 lab	0c1ae69522
7:107314747 SLC26A4 G>C	7	107314747	107314747	G	C	SLC26A4	c.554G>C	NM_000441.1	NP_000432.1:p.(Arg185Thr)	NC_000007.13:g.107314747G>C	(Likely) pathogenic	1 lab	0c1c4e7cd4
5:74670023 CERT1 GAA>G	5	74670023	74670041	GAA	G	CERT1	c.*10-9_*10-8del	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74670040_74670041del	(Likely) benign	1 lab	6ce583cd08
8:10480377 RP1L1 G>C	8	10480377	10480377	G	C	RP1L1	c.335C>G	NM_178857.5	NP_849188.4:p.(Thr112Ser)	NC_000008.10:g.10480377G>C	(Likely) benign	1 lab	0c23b0890a
9:140674167 EHMT1 T>C	9	140674167	140674167	T	C	EHMT1	c.2273T>C	NM_024757.4	NP_079033.4:p.(Leu758Pro)	NC_000009.11:g.140674167T>C	VUS	1 lab	0c26a1fefd
22:29090046 CHEK2 C>A	22	29090046	29090046	C	A	CHEK2	c.1435G>T	NM_007194.4	NP_009125.1:p.(Glu479Ter)	NC_000022.10:g.29090046C>A	(Likely) pathogenic	1 lab	0c29447358
4:5750003 EVC A>G	4	5750003	5750003	A	G	EVC	c.1068A>G	NM_153717.2	NP_714928.1:p.(Leu356=)	NC_000004.11:g.5750003A>G	(Likely) benign	1 lab	0c2a8ac05a
5:37006691 NIPBL G>T	5	37006691	37006691	G	T	NIPBL	c.4087+1G>T	NM_133433.3	NP_597677.2:p.?	NC_000005.9:g.37006691G>T	(Likely) pathogenic	1 lab	0c2acd38f3
6:118880024 PLN G>C	6	118880024	118880024	G	C	PLN	c.-61G>C	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880024G>C	(Likely) benign	1 lab	0c2b4b29f5
20:33582060 MYH7B TGAG>T	20	33582060	33582069	TGAG	T	MYH7B	c.2689_2691del	NM_020884.4	NP_065935.3:p.(Glu897del)	NC_000020.10:g.33582067_33582069del	VUS	1 lab	0c2b83f14c
22:24325167 GSTT2 G>A	22	24325167	24325167	G	A	GSTT2	c.457G>A	NM_000854.3	NP_000845.1:p.(Asp153Asn)	NC_000022.10:g.24325167G>A	(Likely) benign	1 lab	6cf32ff93d
17:62018773 SCN4A T>C	17	62018773	62018773	T	C	SCN4A	c.4869A>G	NM_000334.4	NP_000325.4:p.(Thr1623=)	NC_000017.10:g.62018773T>C	(Likely) benign	1 lab	0c316172ce
X:10731424 MID1 C>T	X	10731424	10731424	C	T	MID1	c.-57+120249G>A	NM_033290.3	NP_150632.1:p.?	NC_000023.10:g.10731424C>T	(Likely) benign	1 lab	6d2d4e0db8
17:29509882 NF1 C>T	17	29509882	29509882	C	T	NF1	c.888+199C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29509882C>T	VUS	1 lab	0c3296f6b7
1:6501130 ESPN G>A	1	6501130	6501130	G	A	ESPN				NC_000001.10:g.6501130G>A	VUS	1 lab	0ce0026788
10:26463226 MYO3A G>T	10	26463226	26463226	G	T	MYO3A	c.4033G>T	NM_017433.4	NP_059129.3:p.(Glu1345Ter)	NC_000010.10:g.26463226G>T	(Likely) pathogenic	1 lab	0c33784242
13:32910708 BRCA2 A>T	13	32910708	32910708	A	T	BRCA2	c.2216A>T	NM_000059.3	NP_000050.2:p.(His739Leu)	NC_000013.10:g.32910708A>T	(Likely) benign	1 lab	0c344fefae
6:31917267 CFB C>A	6	31917267	31917267	C	A	CFB	c.1341C>A	NM_001710.5	NP_001701.2:p.(Asp447Glu)	NC_000006.11:g.31917267C>A	VUS	1 lab	0c3599421e
2:191152340 HIBCH G>A	2	191152340	191152340	G	A	HIBCH	c.410C>T	NM_014362.3	NP_055177.2:p.(Ala137Val)	NC_000002.11:g.191152340G>A	VUS	1 lab	0c3b69ac8f
22:21346593 LZTR1 C>T	22	21346593	21346593	C	T	LZTR1	c.1084C>T	NM_006767.4	NP_006758.2:p.(Arg362Ter)	NC_000022.10:g.21346593C>T	(Likely) pathogenic	1 lab	0c4352679a
5:145532738 LARS1 G>A	5	145532738	145532738	G	A	LARS1	c.1283C>T	NM_020117.9	NP_064502.9:p.(Pro428Leu)	NC_000005.9:g.145532738G>A	VUS	1 lab	0c4e6b5be2
12:6125716 VWF G>A	12	6125716	6125716	G	A	VWF	c.5277C>T	NM_000552.3	NP_000543.2:p.(Asp1759=)	NC_000012.11:g.6125716G>A	(Likely) benign	1 lab	0c4ea53284
1:155264409 PKLR C>T	1	155264409	155264409	C	T	PKLR	c.829G>A	NM_000298.6	NP_000289.1:p.(Glu277Lys)	NC_000001.10:g.155264409C>T	(Likely) benign	1 lab	00263bdc40
7:114299455 FOXP2 C>A	7	114299455	114299455	C	A	FOXP2	c.1513C>A	NM_014491.4	NP_055306.1:p.(Pro505Thr)	NC_000007.13:g.114299455C>A	(Likely) pathogenic	1 lab	0c4ee4da55
6:99365446 FBXL4 T>A	6	99365446	99365446	T	A	FBXL4				NC_000006.11:g.99365446T>A	(Likely) pathogenic	1 lab	4dd4b3d880
2:179441363 TTN C>T	2	179441363	179441363	C	T	TTN	c.69608G>A	NM_001267550.2	NP_001254479.2:p.(Gly23203Glu)	NC_000002.11:g.179441363C>T	VUS	1 lab	0c4f4ae1e5
7:92762329 SAMD9L G>A	7	92762329	92762329	G	A	SAMD9L	c.2956C>T	NM_001303497.2	NP_001290426.1:p.(Arg986Cys)	NC_000007.13:g.92762329G>A	(Likely) pathogenic	1 lab	0c5001e4ae
13:101167798 PCCA G>C	13	101167798	101167798	G	C	PCCA	c.2017G>C	NM_000282.4	NP_000273.2:p.(Val673Leu)	NC_000013.10:g.101167798G>C	(Likely) benign	1 lab	00288bd257
16:21416151 NPIPB3 C>G	16	21416151	21416151	C	G	NPIPB3	c.1106G>C	NM_130464.2	NP_569731.2:p.(Arg369Pro)	NC_000016.9:g.21416151C>G	(Likely) benign	1 lab	6d5647b11e
9:43915405 CNTNAP3B G>A	9	43915405	43915405	G	A	CNTNAP3B	c.3488G>A	NM_001201380.1	NP_001188309.1:p.(Gly1163Asp)	NC_000009.11:g.43915405G>A	(Likely) benign	1 lab	6d73341487
6:31914167 C2 T>C	6	31914167	31914167	T	C	C2				NC_000006.11:g.31914167T>C	VUS	1 lab	0db9cf3faa
3:114058265 ZBTB20 G>A	3	114058265	114058265	G	A	ZBTB20	c.1813C>T	NM_001164342.2	NP_001157814.1:p.(Pro605Ser)	NC_000003.11:g.114058265G>A	(Likely) pathogenic	1 lab	0c54596463
X:153006140 ABCD1 G>A	X	153006140	153006140	G	A	ABCD1	c.1747G>A	NM_000033.3	NP_000024.2:p.(Val583Met)	NC_000023.10:g.153006140G>A	(Likely) pathogenic	1 lab	0c55cc9ee1
2:178481831 IFT70A A>T	2	178481831	178481831	A	T	IFT70A	c.1599T>A	NM_152275.4	NP_689488.3:p.(Tyr533Ter)	NC_000002.11:g.178481831A>T	VUS	1 lab	0c56e1ac86
9:21994137 CDKN2A C>T	9	21994137	21994137	C	T	CDKN2A	c.-4+683G>A	NM_001363763.1	NP_001350692.1:p.?	NC_000009.11:g.21994137C>T	(Likely) pathogenic	1 lab	6dea4144dc
12:6061636 VWF T>C	12	6061636	6061636	T	C	VWF	c.8036A>G	NM_000552.3	NP_000543.2:p.(Asn2679Ser)	NC_000012.11:g.6061636T>C	(Likely) benign	1 lab	0c58113d82
2:32353487 SPAST T>A	2	32353487	32353487	T	A	SPAST	c.1184T>A	NM_014946.3	NP_055761.2:p.(Val395Glu)	NC_000002.11:g.32353487T>A	VUS	1 lab	0c59207e36
8:100568695 VPS13B G>T	8	100568695	100568695	G	T	VPS13B	c.4838G>T	NM_017890.4	NP_060360.3:p.(Gly1613Val)	NC_000008.10:g.100568695G>T	VUS	1 lab	0c5b790674
1:180804112 XPR1 A>G	1	180804112	180804112	A	G	XPR1	c.1237A>G	NM_004736.3	NP_004727.2:p.(Met413Val)	NC_000001.10:g.180804112A>G	VUS	1 lab	0c5c0512fc
3:46621510 CRIPTO T>C	3	46621510	46621510	T	C	CRIPTO	c.408T>C	NM_003212.3	NP_003203.1:p.(Gly136=)	NC_000003.11:g.46621510T>C	VUS	1 lab	0c5c22a68d
1:201060865 CACNA1S G>A	1	201060865	201060865	G	A	CACNA1S	c.597C>T	NM_000069.2	NP_000060.2:p.(Ile199=)	NC_000001.10:g.201060865G>A	(Likely) benign	1 lab	0c5f025158
14:96001410 GLRX5 C>A	14	96001410	96001410	C	A	GLRX5	c.-17C>A	NM_016417.3	NP_057501.2:p.?	NC_000014.8:g.96001410C>A	(Likely) benign	1 lab	0c613a664b
2:233208193 DIS3L2 CTG>C	2	233208193	233208196	CTG	C	DIS3L2	c.1722_1723del	NM_001257281.1	NP_001244210.1:p.(Phe576ProfsTer131)	NC_000002.11:g.233208195_233208196del	VUS	1 lab	6eb62a21cc
18:28648200 DSC2 C>T	18	28648200	28648200	C	T	DSC2	c.2509-22G>A	NM_024422.3	NP_077740.1:p.?	NC_000018.9:g.28648200C>T	(Likely) benign	1 lab	0c63635770
17:41246676 BRCA1 A>C	17	41246676	41246676	A	C	BRCA1	c.872T>G	NM_007294.4	NP_009225.1:p.(Leu291Ter)	NC_000017.10:g.41246676A>C	(Likely) pathogenic	1 lab	0c6623d132
3:50386354 NPRL2 T>G	3	50386354	50386354	T	G	NPRL2	c.536A>C	NM_006545.4	NP_006536.3:p.(Lys179Thr)	NC_000003.11:g.50386354T>G	VUS	1 lab	0c677df24f
8:72229865 EYA1 G>A	8	72229865	72229865	G	A	EYA1	c.478C>T	NM_000503.5	NP_000494.2:p.(Gln160Ter)	NC_000008.10:g.72229865G>A	(Likely) pathogenic	1 lab	0c680aa320
17:59544863 TBX4 G>A	17	59544863	59544863	G	A	TBX4	c.402-8G>A	NM_018488.2	NP_060958.2:p.?	NC_000017.10:g.59544863G>A	(Likely) benign	1 lab	0c6b68d0ea
7:94228138 SGCE A>T	7	94228138	94228138	A	T	SGCE	c.1202T>A	NM_001099401.1	NP_001092871.1:p.(Leu401Ter)	NC_000007.13:g.94228138A>T	(Likely) pathogenic	1 lab	0c6e0c10db
1:153233984 LORICRIN T>TG	1	153233984	153233985	T	TG	LORICRIN	c.560dup	NM_000427.3	NP_000418.2:p.(Cys187TrpfsTer149)	NC_000001.10:g.153233985dup	(Likely) pathogenic	1 lab	0c76565668
2:219922278 IHH C>A	2	219922278	219922278	C	A	IHH	c.454G>T	NM_002181.4	NP_002172.2:p.(Asp152Tyr)	NC_000002.11:g.219922278C>A	VUS	1 lab	0c76dac115
22:19435270 C22orf39 G>GA	22	19435270	19435274	G	GA	C22orf39	c.52dup	NM_001166242.1	NP_001159714.1:p.(Ser18PhefsTer10)	NC_000022.10:g.19435274dup	VUS	1 lab	6f03bf4af6
1:154680694 KCNN3 G>A	1	154680694	154680694	G	A	KCNN3	c.1954C>T	NM_002249.5	NP_002240.3:p.(Leu652=)	NC_000001.10:g.154680694G>A	(Likely) benign	1 lab	0c79e1a93e
13:32906656 BRCA2 A>G	13	32906656	32906656	A	G	BRCA2	c.1041A>G	NM_000059.3	NP_000050.2:p.(Gln347=)	NC_000013.10:g.32906656A>G	(Likely) benign	1 lab	0c7f55d97a
7:107323982 SLC26A4 G>T	7	107323982	107323982	G	T	SLC26A4	c.1001G>T	NM_000441.1	NP_000432.1:p.(Gly334Val)	NC_000007.13:g.107323982G>T	(Likely) pathogenic	1 lab	0c82cabacf
X:64207344 ZC4H2 G>T	X	64207344	64207344	G	T	ZC4H2	c.-272+47165C>A	NM_001178032.2	NP_001171503.1:p.?	NC_000023.10:g.64207344G>T	VUS	1 lab	6f335087e7
15:72105976 NR2E3 G>A	15	72105976	72105976	G	A	NR2E3	c.994G>A	NM_014249.2	NP_055064.1:p.(Glu332Lys)	NC_000015.9:g.72105976G>A	VUS	1 lab	0c85ab6fb0
1:103487244 COL11A1 T>C	1	103487244	103487244	T	C	COL11A1	c.1308+19A>G	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103487244T>C	(Likely) benign	1 lab	0c87e0b418
16:81213246 PKD1L2 G>A	16	81213246	81213246	G	A	PKD1L2	c.2260+4C>T	NM_001076780.1	NP_001070248.1:p.?	NC_000016.9:g.81213246G>A	(Likely) benign	1 lab	6fa0d23c38
3:8775642 CAV3 G>A	3	8775642	8775642	G	A	CAV3	c.80G>A	NM_001234.4	NP_001225.1:p.(Arg27Gln)	NC_000003.11:g.8775642G>A	(Likely) pathogenic	1 lab	0c8e275e75
14:23887566 MYH7 T>G	14	23887566	23887566	T	G	MYH7	c.4022A>C	NM_000257.3	NP_000248.2:p.(Asp1341Ala)	NC_000014.8:g.23887566T>G	VUS	1 lab	0c8effcc24
7:149489413 SSPOP C>T	7	149489413	149489413	C	T	SSPOP	n.5862C>T	NR_163594.1		NC_000007.13:g.149489413C>T	VUS	1 lab	6fde6a4de9
4:110667539 CFI G>T	4	110667539	110667539	G	T	CFI	c.1268C>A	NM_000204.5	NP_000195.3:p.(Ala423Glu)	NC_000004.11:g.110667539G>T	VUS	1 lab	0c91dd94d3
1:196927185 CFHR2 G>T	1	196927185	196927185	G	T	CFHR2	c.595G>T	NM_005666.3	NP_005657.1:p.(Glu199Ter)	NC_000001.10:g.196927185G>T	(Likely) benign	1 lab	0c925bef04
12:32996269 PKP2 C>T	12	32996269	32996269	C	T	PKP2	c.1379-22G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32996269C>T	(Likely) benign	1 lab	0c9509ee46
10:75843268 VCL C>T	10	75843268	75843268	C	T	VCL	c.1019C>T	NM_014000.2	NP_054706.1:p.(Ala340Val)	NC_000010.10:g.75843268C>T	VUS	1 lab	37e4d37eaa
X:41203500 DDX3X C>A	X	41203500	41203500	C	A	DDX3X	c.873C>A	NM_001356.3	NP_001347.3:p.(Tyr291Ter)	NC_000023.10:g.41203500C>A	(Likely) pathogenic	1 lab	0c96c6a8b8
8:31497558 NRG1 C>T	8	31497558	31497558	C	T	NRG1	c.37+611C>T	NM_001159995.1	NP_001153467.1:p.?	NC_000008.10:g.31497558C>T	(Likely) benign	1 lab	6fe618ab76
7:73477953 ELN C>T	7	73477953	73477953	C	T	ELN	c.2107C>T	NM_001278939.1	NP_001265868.1:p.(Leu703=)	NC_000007.13:g.73477953C>T	(Likely) benign	1 lab	0c97ae609e
5:113470435 KCNN2 G>GT	5	113470435	113470436	G	GT	KCNN2	c.-271+28958dup	NM_001372233.1	NP_001359162.1:p.?	NC_000005.9:g.113470436dup	VUS	1 lab	70d99218a1
16:20359815 UMOD C>A	16	20359815	20359815	C	A	UMOD	c.808G>T	NM_003361.3	NP_003352.2:p.(Gly270Cys)	NC_000016.9:g.20359815C>A	(Likely) pathogenic	1 lab	0c9ac631ff
3:41267309 CTNNB1 C>G	3	41267309	41267309	C	G	CTNNB1	c.893C>G	NM_001098209.1	NP_001091679.1:p.(Thr298Arg)	NC_000003.11:g.41267309C>G	VUS	1 lab	0c9d560fc2
1:1961614 GABRD C>T	1	1961614	1961614	C	T	GABRD	c.1252C>T	NM_000815.5	NP_000806.2:p.(Arg418Trp)	NC_000001.10:g.1961614C>T	(Likely) benign	1 lab	002e9bc524
11:16424346 SOX6 C>A	11	16424346	16424346	C	A	SOX6	c.-5+5898G>T	NM_001145811.1	NP_001139283.1:p.?	NC_000011.9:g.16424346C>A	(Likely) benign	1 lab	70fda1990e
12:9268723 A2M CTT>C	12	9268723	9268727	CTT	C	A2M	c.-280_-279del	NM_000014.5	NP_000005.2:p.?	NC_000012.11:g.9268726_9268727del	VUS	1 lab	7146626cf4
10:71142311 HK1 C>T	10	71142311	71142311	C	T	HK1	c.1334C>T	NM_000188.2	NP_000179.2:p.(Ser445Leu)	NC_000010.10:g.71142311C>T	(Likely) pathogenic	1 lab	0ca43ee2b7
5:112111406 APC GAATA>G	5	112111406	112111410	GAATA	G	APC	c.504_507del	NM_000038.6	NP_000029.2:p.(Asp170ValfsTer4)	NC_000005.9:g.112111407_112111410del	(Likely) pathogenic	1 lab	0ca5780756
8:145017937 PLEC C>A	8	145017937	145017937	C	A	PLEC	c.194-5077G>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145017937C>A	(Likely) benign	1 lab	715675f091
19:38993542 RYR1 C>T	19	38993542	38993542	C	T	RYR1	c.7858C>T	NM_000540.2	NP_000531.2:p.(Gln2620Ter)	NC_000019.9:g.38993542C>T	(Likely) pathogenic	1 lab	0ca7825053
10:73485200 CDH23 C>T	10	73485200	73485200	C	T	CDH23	c.3502C>T	NM_022124.6	NP_071407.4:p.(Arg1168Trp)	NC_000010.10:g.73485200C>T	VUS	1 lab	0ca7f865f7
17:78022432 CCDC40 G>GT	17	78022432	78022433	G	GT	CCDC40				NC_000017.10:g.78022433dup	(Likely) pathogenic	1 lab	53f69331cf
1:237880616 RYR2 G>C	1	237880616	237880616	G	C	RYR2	c.10442G>C	NM_001035.3	NP_001026.2:p.(Cys3481Ser)	NC_000001.10:g.237880616G>C	VUS	1 lab	0cabbaeca7
X:13771512 OFD1 T>C	X	13771512	13771512	T	C	OFD1	c.1081T>C	NM_003611.3	NP_003602.1:p.(Tyr361His)	NC_000023.10:g.13771512T>C	(Likely) pathogenic	1 lab	0cabd6dc36
14:104641373 KIF26A C>T	14	104641373	104641373	C	T	KIF26A	c.2248C>T	NM_015656.1	NP_056471.1:p.(Arg750Trp)	NC_000014.8:g.104641373C>T	VUS	1 lab	0cacafc8a4
19:36221280 KMT2B G>A	19	36221280	36221280	G	A	KMT2B	c.5114G>A	NM_014727.2	NP_055542.1:p.(Arg1705Gln)	NC_000019.9:g.36221280G>A	VUS	1 lab	0cacfc6b2e
19:49862735 TEAD2 C>T	19	49862735	49862735	C	T	TEAD2	c.254G>A	NM_003598.1	NP_003589.1:p.(Arg85His)	NC_000019.9:g.49862735C>T	VUS	1 lab	0cafabcb78
1:64120081 PGM1 C>T	1	64120081	64120081	C	T	PGM1	c.1597C>T	NM_001172818.1	NP_001166289.1:p.(Arg533Trp)	NC_000001.10:g.64120081C>T	VUS	1 lab	0cb864be0a
6:33146237 COL11A2 C>G	6	33146237	33146237	C	G	COL11A2	c.1748G>C	NM_080680.2	NP_542411.2:p.(Gly583Ala)	NC_000006.11:g.33146237C>G	VUS	1 lab	0cb9965da1
1:43396551 SLC2A1 C>T	1	43396551	43396551	C	T	SLC2A1	c.276-14G>A	NM_006516.2	NP_006507.2:p.?	NC_000001.10:g.43396551C>T	VUS	1 lab	0cbacd95b1
19:6495338 TUBB4A C>A	19	6495338	6495338	C	A	TUBB4A	c.1172G>T	NM_006087.4	NP_006078.2:p.(Arg391Leu)	NC_000019.9:g.6495338C>A	VUS	1 lab	0cbb6b12a1
6:65596620 EYS ATCCATCAGT>A	6	65596620	65596629	ATCCATCAGT	A	EYS	c.2953_2961del	NM_001142800.1	NP_001136272.1:p.(Thr985_Gly987del)	NC_000006.11:g.65596621_65596629del	VUS	1 lab	0cbdc27361
8:72182045 EYA1 C>T	8	72182045	72182045	C	T	EYA1	c.980G>A	NM_172058.2	NP_742055.1:p.(Trp327Ter)	NC_000008.10:g.72182045C>T	(Likely) pathogenic	1 lab	0cc2a153a6
10:29169285 C10orf126 G>C	10	29169285	29169285	G	C	C10orf126	n.607G>C	NR_164114.1		NC_000010.10:g.29169285G>C	(Likely) benign	1 lab	71585b5595
15:91290726 BLM T>G	15	91290726	91290726	T	G	BLM				NC_000015.9:g.91290726T>G	(Likely) pathogenic	1 lab	0cc9d35b18
11:2909505 SLC67A1-AS T>TGG	11	2909505	2909512	T	TGG	SLC67A1-AS	n.997_998dup	NR_169304.1		NC_000011.9:g.2909511_2909512dup	(Likely) benign	1 lab	71e790d4e3
2:136873098 CXCR4 G>A	2	136873098	136873098	G	A	CXCR4				NC_000002.11:g.136873098G>A	VUS	1 lab	887bf58c96
20:57430273 GNAS A>T	20	57430273	57430273	A	T	GNAS	c.1766A>T	NM_001077490.1	NP_001070958.1:p.(Lys589Met)	NC_000020.10:g.57430273A>T	(Likely) benign	1 lab	722b9cea3b
13:39422507 FREM2 A>G	13	39422507	39422507	A	G	FREM2	c.6170-91A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39422507A>G	(Likely) benign	1 lab	0043a39d91
6:79752619 PHIP C>CT	6	79752619	79752620	C	CT	PHIP				NC_000006.11:g.79752619_79752620insT	VUS	1 lab	0cd867ddbd
10:10643688 CELF2 CTT>C	10	10643688	10643703	CTT	C	CELF2	c.-94-80717_-94-80716del	NM_001326317.1	NP_001313246.1:p.?	NC_000010.10:g.10643702_10643703del	(Likely) benign	1 lab	7249c3bfc1
3:38968412 SCN11A T>A	3	38968412	38968412	T	A	SCN11A	c.499A>T	NM_014139.2	NP_054858.2:p.(Thr167Ser)	NC_000003.11:g.38968412T>A	VUS	1 lab	0cd9a510ec
21:45929188 TSPEAR C>T	21	45929188	45929188	C	T	TSPEAR	c.1648G>A	NM_144991.2	NP_659428.2:p.(Val550Met)	NC_000021.8:g.45929188C>T	VUS	1 lab	0cdaa74560
12:6103204 VWF A>G	12	6103204	6103204	A	G	VWF	c.6422T>C	NM_000552.3	NP_000543.2:p.(Val2141Ala)	NC_000012.11:g.6103204A>G	(Likely) benign	1 lab	0cec642e69
3:64536694 ADAMTS9 C>A	3	64536694	64536694	C	A	ADAMTS9	c.4743G>T	NM_182920.2	NP_891550.1:p.(Val1581=)	NC_000003.11:g.64536694C>A	(Likely) benign	1 lab	0047634f70
2:162275551 TBR1 A>G	2	162275551	162275551	A	G	TBR1	c.1118A>G	NM_006593.4	NP_006584.1:p.(Gln373Arg)	NC_000002.11:g.162275551A>G	(Likely) pathogenic	1 lab	0cf02a773b
4:114288982 ANK2 T>G	4	114288982	114288982	T	G	ANK2	c.11293T>G	NM_001148.4	NP_001139.3:p.(Ser3765Ala)	NC_000004.11:g.114288982T>G	(Likely) benign	1 lab	0cfa6d1fdf
3:128622922 ACAD9 G>C	3	128622922	128622922	G	C	ACAD9	c.976G>C	NM_014049.5	NP_054768.2:p.(Ala326Pro)	NC_000003.11:g.128622922G>C	(Likely) pathogenic	1 lab	0cfbe4da68
1:94544233 ABCA4 G>A	1	94544233	94544233	G	A	ABCA4	c.1269C>T	NM_000350.2	NP_000341.2:p.(His423=)	NC_000001.10:g.94544233G>A	(Likely) benign	1 lab	0cfc3513c2
11:17565827 USH1C G>A	11	17565827	17565827	G	A	USH1C	c.28C>T	NM_153676.3	NP_710142.1:p.(Arg10Trp)	NC_000011.9:g.17565827G>A	VUS	1 lab	0cfdf83238
22:29095634 CHEK2 A>G	22	29095634	29095634	A	G	CHEK2	c.1008+192T>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29095634A>G	(Likely) benign	1 lab	0cffd06740
6:42146028 GUCA1A T>C	6	42146028	42146028	T	C	GUCA1A	c.212T>C	NM_000409.3	NP_000400.2:p.(Ile71Thr)	NC_000006.11:g.42146028T>C	VUS	1 lab	0d03f6ca26
1:94467478 ABCA4 C>G	1	94467478	94467478	C	G	ABCA4	c.6218G>C	NM_000350.2	NP_000341.2:p.(Gly2073Ala)	NC_000001.10:g.94467478C>G	VUS	1 lab	0d05b941de
17:17122508 FLCN G>C	17	17122508	17122508	G	C	FLCN	c.887C>G	NM_144997.5	NP_659434.2:p.(Ser296Ter)	NC_000017.10:g.17122508G>C	(Likely) pathogenic	1 lab	0d06e5a1e3
19:55575660 RDH13 T>A	19	55575660	55575660	T	A	RDH13	c.-149+4A>T	NM_138412.3	NP_612421.1:p.?	NC_000019.9:g.55575660T>A	(Likely) benign	1 lab	72d172d4b1
10:99510091 ZFYVE27 T>G	10	99510091	99510091	T	G	ZFYVE27	c.668T>G	NM_001002261.3	NP_001002261.1:p.(Val223Gly)	NC_000010.10:g.99510091T>G	(Likely) benign	1 lab	0d09977250
2:227871797 COL4A4 G>A	2	227871797	227871797	G	A	COL4A4	c.*244C>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227871797G>A	(Likely) benign	1 lab	0d0a9ad5ff
8:75377246 GDAP1 G>A	8	75377246	75377246	G	A	GDAP1	c.695-23667G>A	NM_001362931.1	NP_001349860.1:p.?	NC_000008.10:g.75377246G>A	(Likely) benign	1 lab	73f69d7fcc
X:73815812 RLIM T>C	X	73815812	73815812	T	C	RLIM	c.1A>G	NM_183353.3	NP_899196.1:p.(Met1?)	NC_000023.10:g.73815812T>C	VUS	1 lab	103e3f6b92
14:21897128 CHD8 G>A	14	21897128	21897128	G	A	CHD8	c.1210C>T	NM_001170629.2	NP_001164100.1:p.(Pro404Ser)	NC_000014.8:g.21897128G>A	VUS	1 lab	0d16eff05d
17:79892200 PYCR1 A>G	17	79892200	79892200	A	G	PYCR1	c.797+2T>C	NM_153824.1	NP_722546.1:p.?	NC_000017.10:g.79892200A>G	(Likely) pathogenic	1 lab	0d191ccbef
17:41203079 BRCA1 C>A	17	41203079	41203079	C	A	BRCA1	c.5332+1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203079C>A	(Likely) pathogenic	1 lab	0d1b93927d
17:17696593 RAI1 C>T	17	17696593	17696593	C	T	RAI1	c.331C>T	NM_030665.4	NP_109590.3:p.(Arg111Cys)	NC_000017.10:g.17696593C>T	(Likely) benign	1 lab	0d242af162
16:50744877 NOD2 A>G	16	50744877	50744877	A	G	NOD2	c.1055A>G	NM_022162.1	NP_071445.1:p.(His352Arg)	NC_000016.9:g.50744877A>G	(Likely) benign	1 lab	004a7003ba
13:20763321 GJB2 A>G	13	20763321	20763321	A	G	GJB2	c.400T>C	NM_004004.5	NP_003995.2:p.(Trp134Arg)	NC_000013.10:g.20763321A>G	VUS	1 lab	0d2808a4db
2:48027574 MSH6 C>T	2	48027574	48027574	C	T	MSH6	c.2452C>T	NM_000179.3	NP_000170.1:p.(Leu818Phe)	NC_000002.11:g.48027574C>T	VUS	1 lab	0d2df92650
22:50962434 SCO2 ATGTCAGGGCAGT>A	22	50962434	50962446	ATGTCAGGGCAGT	A	SCO2	c.395_406del	NM_005138.3	NP_005129.2:p.(His132_Ile136delinsLeu)	NC_000022.10:g.50962435_50962446del	VUS	1 lab	0d2ee3f241
4:140307388 NAA15 A>G	4	140307388	140307388	A	G	NAA15	c.2400+4A>G	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140307388A>G	(Likely) pathogenic	1 lab	0d2f555ec5
1:13368527 PRAMEF5 T>C	1	13368527	13368527	T	C	PRAMEF5	c.1225T>C	NM_001013407.1	NP_001013425.1:p.(Cys409Arg)	NC_000001.10:g.13368527T>C	VUS	1 lab	7405d4ec0e
2:179542633 TTN G>A	2	179542633	179542633	G	A	TTN	c.34006C>T	NM_001267550.2	NP_001254479.2:p.(Arg11336Cys)	NC_000002.11:g.179542633G>A	(Likely) benign	1 lab	0d330ea08e
7:2552806 LFNG G>C	7	2552806	2552806	G	C	LFNG	c.63G>C	NM_001166355.1	NP_001159827.1:p.(Trp21Cys)	NC_000007.13:g.2552806G>C	(Likely) benign	1 lab	742f0ceeb5
5:180076535 FLT4 C>G	5	180076535	180076535	C	G	FLT4	c.11G>C	NM_182925.5	NP_891555.2:p.(Gly4Ala)	NC_000005.9:g.180076535C>G	(Likely) benign	1 lab	0d3929df42
7:140487375 BRAF T>C	7	140487375	140487375	T	C	BRAF	c.1150A>G	NM_004333.4	NP_004324.2:p.(Arg384Gly)	NC_000007.13:g.140487375T>C	(Likely) benign	1 lab	0d39cfd89b
3:195256675 PPP1R2 C>A	3	195256675	195256675	C	A	PPP1R2	c.150G>T	NM_006241.4	NP_006232.1:p.(Met50Ile)	NC_000003.11:g.195256675C>A	VUS	1 lab	0d3cc6e141
1:112321074 KCND3 C>T	1	112321074	112321074	C	T	KCND3	c.1502G>A	NM_004980.4	NP_004971.2:p.(Arg501Gln)	NC_000001.10:g.112321074C>T	VUS	1 lab	0d401c6cda
5:14406075 TRIO C>A	5	14406075	14406075	C	A	TRIO	c.4835C>A	NM_007118.2	NP_009049.2:p.(Pro1612His)	NC_000005.9:g.14406075C>A	(Likely) benign	1 lab	0d40aef132
20:62065190 KCNQ2 C>A	20	62065190	62065190	C	A	KCNQ2	c.1090G>T	NM_172107.4	NP_742105.1:p.(Glu364Ter)	NC_000020.10:g.62065190C>A	(Likely) pathogenic	1 lab	0051705862
6:109690074 CD164 G>A	6	109690074	109690074	G	A	CD164	c.574C>T	NM_006016.5	NP_006007.2:p.(Arg192Ter)	NC_000006.11:g.109690074G>A	(Likely) pathogenic	1 lab	0d48948818
12:25378651 KRAS T>C	12	25378651	25378651	T	C	KRAS	c.347A>G	NM_033360.2	NP_203524.1:p.(Asn116Ser)	NC_000012.11:g.25378651T>C	(Likely) pathogenic	1 lab	0d49678b50
7:128498190 FLNC A>C	7	128498190	128498190	A	C	FLNC	c.7909A>C	NM_001458.4	NP_001449.3:p.(Lys2637Gln)	NC_000007.13:g.128498190A>C	(Likely) benign	1 lab	0d498a02b7
9:123751958 C5 G>C	9	123751958	123751958	G	C	C5	c.3042C>G	NM_001735.3	NP_001726.2:p.(Ser1014Arg)	NC_000009.11:g.123751958G>C	VUS	1 lab	0d49b324de
11:68673632 IGHMBP2 G>A	11	68673632	68673632	G	A	IGHMBP2	c.182G>A	NM_002180.3	NP_002171.2:p.(Gly61Glu)	NC_000011.9:g.68673632G>A	VUS	1 lab	0d4a7f35a9
5:41186220 C6 T>G	5	41186220	41186220	T	G	C6	c.678A>C	NM_000065.3	NP_000056.2:p.(Thr226=)	NC_000005.9:g.41186220T>G	(Likely) benign	1 lab	0d4cc1441d
4:186427665 PDLIM3 C>T	4	186427665	186427665	C	T	PDLIM3				NC_000004.11:g.186427665C>T	VUS	1 lab	0d4d30d85a
12:6155950 VWF C>T	12	6155950	6155950	C	T	VWF	c.2220G>A	NM_000552.3	NP_000543.2:p.(Met740Ile)	NC_000012.11:g.6155950C>T	(Likely) benign	1 lab	0d52352e94
17:78087080 GAA C>T	17	78087080	78087080	C	T	GAA	c.2104C>T	NM_000152.3	NP_000143.2:p.(Arg702Cys)	NC_000017.10:g.78087080C>T	(Likely) pathogenic	1 lab	00534632dc
14:23885128 MYH7 T>C	14	23885128	23885128	T	C	MYH7	c.4953+85A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23885128T>C	(Likely) benign	1 lab	0d569c0cbd
9:6589197 GLDC G>C	9	6589197	6589197	G	C	GLDC	c.1578C>G	NM_000170.2	NP_000161.2:p.(Asn526Lys)	NC_000009.11:g.6589197G>C	VUS	1 lab	0d56af2e74
1:94496099 ABCA4 A>T	1	94496099	94496099	A	T	ABCA4	c.4254-17T>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94496099A>T	(Likely) pathogenic	1 lab	0d56bca86f
12:6153468 VWF G>A	12	6153468	6153468	G	A	VWF	c.2431C>T	NM_000552.3	NP_000543.2:p.(Pro811Ser)	NC_000012.11:g.6153468G>A	(Likely) pathogenic	1 lab	0d571f5451
12:6172207 VWF G>C	12	6172207	6172207	G	C	VWF	c.1446C>G	NM_000552.3	NP_000543.2:p.(Ile482Met)	NC_000012.11:g.6172207G>C	(Likely) benign	1 lab	0d59deb061
11:121058675 TECTA G>A	11	121058675	121058675	G	A	TECTA	c.6134G>A	NM_005422.4	NP_005413.2:p.(Cys2045Tyr)	NC_000011.9:g.121058675G>A	VUS	1 lab	0d5d4fc4ed
7:107329489 SLC26A4 A>G	7	107329489	107329489	A	G	SLC26A4	c.1002-9A>G	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107329489A>G	VUS	1 lab	0d5dac27b8
22:37524832 IL2RB A>C	22	37524832	37524832	A	C	IL2RB	c.960T>G	NM_000878.5	NP_000869.1:p.(Pro320=)	NC_000022.10:g.37524832A>C	(Likely) benign	1 lab	0059f3e1a1
X:128710431 OCRL G>A	X	128710431	128710431	G	A	OCRL	c.2017G>A	NM_000276.4	NP_000267.2:p.(Gly673Arg)	NC_000023.10:g.128710431G>A	VUS	1 lab	006257933a
8:30925843 WRN G>C	8	30925843	30925843	G	C	WRN	c.724G>C	NM_000553.4	NP_000544.2:p.(Glu242Gln)	NC_000008.10:g.30925843G>C	VUS	1 lab	0d6507cfec
11:118373457 KMT2A G>T	11	118373457	118373457	G	T	KMT2A				NC_000011.9:g.118373457G>T	VUS	1 lab	0d65d12dea
X:99849033 TNMD G>A	X	99849033	99849033	G	A	TNMD	c.321+1G>A	NM_022144.2	NP_071427.2:p.?	NC_000023.10:g.99849033G>A	VUS	1 lab	0d65fad18b
17:29496922 NF1 ACT>A	17	29496922	29496924	ACT	A	NF1	c.494_495del	NM_001042492.3	NP_001035957.1:p.(Thr165SerfsTer8)	NC_000017.10:g.29496923_29496924del	(Likely) pathogenic	1 lab	0d66f06af3
12:88470981 CEP290 G>T	12	88470981	88470981	G	T	CEP290				NC_000012.11:g.88470981G>T	(Likely) benign	1 lab	0d67c7312c
13:113760101 F7 C>T	13	113760101	113760101	C	T	F7				NC_000013.10:g.113760101C>T	(Likely) pathogenic	1 lab	0d6b35345a
5:139494500 PURA G>C	5	139494500	139494500	G	C	PURA	c.734G>C	NM_005859.4	NP_005850.1:p.(Arg245Pro)	NC_000005.9:g.139494500G>C	VUS	1 lab	0d6c7719c2
1:241665729 FH G>A	1	241665729	241665729	G	A	FH	c.1236+14C>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241665729G>A	(Likely) benign	1 lab	0d6f65c808
13:77589594 FBXL3 T>C	13	77589594	77589594	T	C	FBXL3	c.593A>G	NM_012158.2	NP_036290.1:p.(Asp198Gly)	NC_000013.10:g.77589594T>C	VUS	1 lab	0d6f6c18ce
20:33588370 MYH7B T>A	20	33588370	33588370	T	A	MYH7B	c.5182T>A	NM_020884.4	NP_065935.3:p.(Ser1728Thr)	NC_000020.10:g.33588370T>A	(Likely) benign	1 lab	0d70c6a326
14:23889151 MYH7 A>G	14	23889151	23889151	A	G	MYH7	c.3629T>C	NM_000257.4	NP_000248.2:p.(Leu1210Pro)	NC_000014.8:g.23889151A>G	(Likely) pathogenic	1 lab	0d7619c091
21:36252853 RUNX1 C>T	21	36252853	36252853	C	T	RUNX1	c.508+1G>A	NM_001754.4	NP_001745.2:p.?	NC_000021.8:g.36252853C>T	(Likely) pathogenic	1 lab	0d767f943e
5:112175600 APC A>T	5	112175600	112175600	A	T	APC	c.4309A>T	NM_000038.6	NP_000029.2:p.(Lys1437Ter)	NC_000005.9:g.112175600A>T	(Likely) pathogenic	1 lab	0d78df65b0
18:24130529 KCTD1 GACAC>G	18	24130529	24130569	GACAC	G	KCTD1	c.10-49319_10-49316del	NM_001258222.1	NP_001245151.1:p.?	NC_000018.9:g.24130566_24130569del	(Likely) benign	1 lab	745332e3d9
16:20359620 UMOD A>G	16	20359620	20359620	A	G	UMOD	c.898T>C	NM_003361.2	NP_003352.2:p.(Cys300Arg)	NC_000016.9:g.20359620A>G	(Likely) pathogenic	1 lab	0d7ecb1f8c
X:48545185 WAS C>T	X	48545185	48545185	C	T	WAS	c.575C>T	NM_000377.3	NP_000368.1:p.(Pro192Leu)	NC_000023.10:g.48545185C>T	VUS	1 lab	0d80ad44c2
10:112361506 SMC3 C>A	10	112361506	112361506	C	A	SMC3	c.2756C>A	NM_005445.4	NP_005436.1:p.(Thr919Asn)	NC_000010.10:g.112361506C>A	(Likely) pathogenic	1 lab	0d86e39681
11:118342922 KMT2A C>T	11	118342922	118342922	C	T	KMT2A	c.1048C>T	NM_001197104.1	NP_001184033.1:p.(Gln350Ter)	NC_000011.9:g.118342922C>T	(Likely) pathogenic	1 lab	0d8dc0de43
9:35805595 NPR2 A>T	9	35805595	35805595	A	T	NPR2	c.1975A>T	NM_003995.4	NP_003986.2:p.(Lys659Ter)	NC_000009.11:g.35805595A>T	VUS	1 lab	0d925b2554
14:69006883 RAD51B CTTT>C	14	69006883	69006908	CTTT	C	RAD51B	c.1037-62474_1037-62472del	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69006906_69006908del	(Likely) benign	1 lab	74d2fa0e37
3:48613724 COL7A1 G>A	3	48613724	48613724	G	A	COL7A1	c.5778C>T	NM_000094.3	NP_000085.1:p.(Leu1926=)	NC_000003.11:g.48613724G>A	(Likely) benign	1 lab	0d964f36a7
17:29585455 NF1 G>T	17	29585455	29585455	G	T	NF1	c.4204G>T	NM_000267.3	NP_000258.1:p.(Glu1402Ter)	NC_000017.10:g.29585455G>T	(Likely) pathogenic	1 lab	0d97ed60a9
11:108155031 ATM T>G	11	108155031	108155031	T	G	ATM	c.3824T>G	NM_000051.4	NP_000042.3:p.(Ile1275Ser)	NC_000011.9:g.108155031T>G	VUS	1 lab	0d98a7d810
1:1670691 SLC35E2A G>A	1	1670691	1670691	G	A	SLC35E2A	n.800C>T	NR_173244.1		NC_000001.10:g.1670691G>A	VUS	1 lab	752ed1478f
12:6128464 VWF G>A	12	6128464	6128464	G	A	VWF	c.4120C>T	NM_000552.5	NP_000543.3:p.(Arg1374Cys)	NC_000012.11:g.6128464G>A	(Likely) pathogenic	1 lab	0d991389af
3:37055924 MLH1 G>T	3	37055924	37055924	G	T	MLH1	c.679G>T	NM_000249.3	NP_000240.1:p.(Glu227Ter)	NC_000003.11:g.37055924G>T	(Likely) pathogenic	1 lab	0d9b87e27a
9:36276951 GNE C>T	9	36276951	36276951	C	T	GNE	c.-10G>A	NM_001128227.2	NP_001121699.1:p.?	NC_000009.11:g.36276951C>T	(Likely) benign	1 lab	7553252385
14:23894291 MYH7 C>T	14	23894291	23894291	C	T	MYH7	c.2424-58G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23894291C>T	(Likely) benign	1 lab	0d9e5f29d5
1:152279964 FLG C>T	1	152279964	152279964	C	T	FLG	c.7398G>A	NM_002016.2	NP_002007.1:p.(Pro2466=)	NC_000001.10:g.152279964C>T	(Likely) benign	1 lab	0da2fe2369
4:114275548 ANK2 A>C	4	114275548	114275548	A	C	ANK2	c.5774A>C	NM_001148.4	NP_001139.3:p.(His1925Pro)	NC_000004.11:g.114275548A>C	(Likely) benign	1 lab	0da3bab940
11:118373861 KMT2A C>T	11	118373861	118373861	C	T	KMT2A				NC_000011.9:g.118373861C>T	(Likely) benign	1 lab	5425b0789d
13:23913783 SACS A>C	13	23913783	23913783	A	C	SACS	c.4232T>G	NM_014363.4	NP_055178.3:p.(Leu1411Ter)	NC_000013.10:g.23913783A>C	(Likely) pathogenic	1 lab	0da402400b
8:41556886 ANK1 T>C	8	41556886	41556886	T	C	ANK1	c.2558+84A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41556886T>C	(Likely) benign	1 lab	00665145e9
X:152825299 ATP2B3 C>T	X	152825299	152825299	C	T	ATP2B3	c.2738C>T	NM_021949.3	NP_068768.2:p.(Pro913Leu)	NC_000023.10:g.152825299C>T	VUS	1 lab	0daba189a3
5:172659824 NKX2-5 G>C	5	172659824	172659824	G	C	NKX2-5	c.723C>G	NM_004387.3	NP_004378.1:p.(Tyr241Ter)	NC_000005.9:g.172659824G>C	(Likely) pathogenic	1 lab	0dadf8bcd7
19:50796503 MYH14 C>T	19	50796503	50796503	C	T	MYH14	c.5270C>T	NM_001145809.1	NP_001139281.1:p.(Ser1757Leu)	NC_000019.9:g.50796503C>T	(Likely) benign	1 lab	0db57edc03
17:18066565 MYO15A G>A	17	18066565	18066565	G	A	MYO15A	c.9620G>A	NM_016239.3	NP_057323.3:p.(Arg3207His)	NC_000017.10:g.18066565G>A	VUS	1 lab	0dbae19b8f
5:179069322 SPATA31J1 C>T	5	179069322	179069322	C	T	SPATA31J1	c.*13+5G>A	NM_001142306.1	NP_001135778.1:p.?	NC_000005.9:g.179069322C>T	VUS	1 lab	75758b598d
2:166866345 SCN1A A>G	2	166866345	166866345	A	G	SCN1A	c.3886T>C	NM_001165963.1	NP_001159435.1:p.(Leu1296=)	NC_000002.11:g.166866345A>G	(Likely) benign	1 lab	0dc81695dd
2:73675428 MISSING A>G	2	73675428	73675428	A	G	MISSING				NC_000002.11:g.73675428A>G	(Likely) benign	1 lab	0dc81b2dc9
8:87755891 CNGB3 A>C	8	87755891	87755891	A	C	CNGB3	c.-36T>G	NM_019098.4	NP_061971.3:p.?	NC_000008.10:g.87755891A>C	(Likely) benign	1 lab	0dca19e07a
7:107334926 SLC26A4 G>C	7	107334926	107334926	G	C	SLC26A4	c.1341+1G>C	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107334926G>C	(Likely) pathogenic	1 lab	0dcb43fcf1
X:53631677 HUWE1 C>T	X	53631677	53631677	C	T	HUWE1	c.2615G>A	NM_031407.6	NP_113584.3:p.(Arg872Gln)	NC_000023.10:g.53631677C>T	VUS	1 lab	0dcbb80e0d
12:58120555 AGAP2 C>T	12	58120555	58120555	C	T	AGAP2	c.3359G>A	NM_001122772.2	NP_001116244.1:p.(Arg1120His)	NC_000012.11:g.58120555C>T	VUS	1 lab	0dcd69c62a
11:103106388 DYNC2H1 C>G	11	103106388	103106388	C	G	DYNC2H1	c.9568-13C>G	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103106388C>G	(Likely) benign	1 lab	0dcdaa89a0
1:147231294 GJA5 G>A	1	147231294	147231294	G	A	GJA5	c.53C>T	NM_005266.6	NP_005257.2:p.(Ser18Leu)	NC_000001.10:g.147231294G>A	VUS	1 lab	0dd0b05deb
17:7577083 TP53 CT>C	17	7577083	7577084	CT	C	TP53	c.854del	NM_000546.6	NP_000537.3:p.(Glu285GlyfsTer60)	NC_000017.10:g.7577084del	(Likely) pathogenic	1 lab	0dd1e6bc19
2:179640398 TTN T>C	2	179640398	179640398	T	C	TTN	c.6193A>G	NM_001267550.2	NP_001254479.2:p.(Lys2065Glu)	NC_000002.11:g.179640398T>C	VUS	1 lab	0dd20b7306
1:2116873 FAAP20 C>A	1	2116873	2116873	C	A	FAAP20	c.537G>T	NM_001146310.1	NP_001139782.1:p.(Trp179Cys)	NC_000001.10:g.2116873C>A	(Likely) benign	1 lab	767c1e6c62
6:42672350 PRPH2 C>T	6	42672350	42672350	C	T	PRPH2	c.582-1G>A	NM_000322.4	NP_000313.2:p.?	NC_000006.11:g.42672350C>T	(Likely) pathogenic	1 lab	0dd2e0d2ee
3:132441115 NPHP3 C>T	3	132441115	132441115	C	T	NPHP3	c.85G>A	NM_153240.5	NP_694972.3:p.(Glu29Lys)	NC_000003.11:g.132441115C>T	VUS	1 lab	0df8dbf6a6
1:155449214 ASH1L AAG>A	1	155449214	155449218	AAG	A	ASH1L	c.3445_3446del	NM_018489.3	NP_060959.2:p.(Leu1149CysfsTer27)	NC_000001.10:g.155449217_155449218del	(Likely) pathogenic	1 lab	0dd424c7d8
12:9000160 A2ML1 T>C	12	9000160	9000160	T	C	A2ML1	c.1699T>C	NM_144670.4	NP_653271.2:p.(Ser567Pro)	NC_000012.11:g.9000160T>C	(Likely) benign	1 lab	0dd7dd0e3e
10:26434455 MYO3A G>T	10	26434455	26434455	G	T	MYO3A	c.2497G>T	NM_017433.4	NP_059129.3:p.(Ala833Ser)	NC_000010.10:g.26434455G>T	(Likely) benign	1 lab	0dd936930c
9:104449175 GRIN3A C>T	9	104449175	104449175	C	T	GRIN3A	c.1007G>A	NM_133445.2	NP_597702.2:p.(Arg336Gln)	NC_000009.11:g.104449175C>T	(Likely) benign	1 lab	0dda4565df
6:137525493 IFNGR1 C>T	6	137525493	137525493	C	T	IFNGR1	c.522G>A	NM_000416.2	NP_000407.1:p.(Val174=)	NC_000006.11:g.137525493C>T	(Likely) benign	1 lab	006f9d73da
6:152958461 SYNE1 G>A	6	152958461	152958461	G	A	SYNE1	c.-529C>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152958461G>A	(Likely) benign	1 lab	0ddb5f88a2
5:90052850 ADGRV1 C>T	5	90052850	90052850	C	T	ADGRV1	c.11812C>T	NM_032119.4	NP_115495.3:p.(Gln3938Ter)	NC_000005.9:g.90052850C>T	(Likely) pathogenic	1 lab	0de1158306
18:32558479 MAPRE2 GGAAT>G	18	32558479	32558486	GGAAT	G	MAPRE2	c.-70+1440_-70+1443del	NM_001143826.2	NP_001137298.1:p.?	NC_000018.9:g.32558483_32558486del	VUS	1 lab	7757fc5930
X:37061488 FTHL18P A>G	X	37061488	37061488	A	G	FTHL18P	c.274T>C	NM_001271682.1	NP_001258611.1:p.(Cys92Arg)	NC_000023.10:g.37061488A>G	(Likely) benign	1 lab	7835fa09f6
1:94512523 ABCA4 T>C	1	94512523	94512523	T	C	ABCA4	c.2870A>G	NM_000350.3	NP_000341.2:p.(Gln957Arg)	NC_000001.10:g.94512523T>C	(Likely) pathogenic	1 lab	0debef8ddd
10:68535301 CTNNA3 G>T	10	68535301	68535301	G	T	CTNNA3	c.1048-19C>A	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.68535301G>T	(Likely) benign	1 lab	0def4a84ac
18:67833395 RTTN A>G	18	67833395	67833395	A	G	RTTN	c.1832T>C	NM_173630.3	NP_775901.3:p.(Leu611Pro)	NC_000018.9:g.67833395A>G	VUS	1 lab	0df3ca5aef
16:16259616 ABCC6 A>G	16	16259616	16259616	A	G	ABCC6	c.3170T>C	NM_001171.6	NP_001162.5:p.(Val1057Ala)	NC_000016.9:g.16259616A>G	(Likely) benign	1 lab	0df53703e2
12:6166134 VWF C>T	12	6166134	6166134	C	T	VWF	c.1834G>A	NM_000552.5	NP_000543.3:p.(Val612Met)	NC_000012.11:g.6166134C>T	VUS	1 lab	0df5c79de3
X:107930766 COL4A5 G>T	X	107930766	107930766	G	T	COL4A5	c.4370G>T	NM_033380.2	NP_203699.1:p.(Gly1457Val)	NC_000023.10:g.107930766G>T	VUS	1 lab	0df78630ca
13:32910619 BRCA2 G>C	13	32910619	32910619	G	C	BRCA2	c.2127G>C	NM_000059.3	NP_000050.2:p.(Leu709=)	NC_000013.10:g.32910619G>C	(Likely) benign	1 lab	0df8ec4c2a
19:42473623 ATP1A3 G>A	19	42473623	42473623	G	A	ATP1A3				NC_000019.9:g.42473623G>A	(Likely) benign	1 lab	0df9656a2e
19:50747558 MYH14 C>T	19	50747558	50747558	C	T	MYH14	c.1174C>T	NM_001145809.2	NP_001139281.1:p.(Arg392Trp)	NC_000019.9:g.50747558C>T	(Likely) benign	1 lab	0df9d8446f
1:156100739 LMNA T>C	1	156100739	156100739	T	C	LMNA	c.513+175T>C	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156100739T>C	(Likely) benign	1 lab	0dfbb87519
3:52436378 BAP1 T>C	3	52436378	52436378	T	C	BAP1	c.2116A>G	NM_004656.3	NP_004647.1:p.(Ile706Val)	NC_000003.11:g.52436378T>C	VUS	1 lab	0dfc0684df
2:179434771 TTN C>T	2	179434771	179434771	C	T	TTN	c.76088G>A	NM_001267550.2	NP_001254479.2:p.(Arg25363His)	NC_000002.11:g.179434771C>T	VUS	1 lab	0dfdda74d7
1:3329193 PRDM16 C>T	1	3329193	3329193	C	T	PRDM16	c.2432C>T	NM_022114.3	NP_071397.3:p.(Ala811Val)	NC_000001.10:g.3329193C>T	VUS	1 lab	0e011a5089
11:76867933 MYO7A C>T	11	76867933	76867933	C	T	MYO7A	c.618C>T	NM_000260.3	NP_000251.3:p.(Arg206=)	NC_000011.9:g.76867933C>T	(Likely) benign	1 lab	0e04158f50
X:49230816 GAGE2C C>G	X	49230816	49230816	C	G	GAGE2C	c.220C>G	NM_001472.2	NP_001463.1:p.(His74Asp)	NC_000023.10:g.49230816C>G	VUS	1 lab	7863d2f5f7
12:122701415 DIABLO G>C	12	122701415	122701415	G	C	DIABLO	c.317C>G	NM_019887.5	NP_063940.1:p.(Ala106Gly)	NC_000012.11:g.122701415G>C	VUS	1 lab	0e07749f7d
11:108163548 ATM G>A	11	108163548	108163548	G	A	ATM	c.4611+28G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108163548G>A	(Likely) benign	1 lab	0e0acbfcce
3:38628851 SCN5A A>AC	3	38628851	38628857	A	AC	SCN5A	c.2436+39dup	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38628857dup	(Likely) benign	1 lab	0e0bc51228
19:605191 HCN2 G>A	19	605191	605191	G	A	HCN2	c.1187G>A	NM_001194.4	NP_001185.3:p.(Arg396His)	NC_000019.9:g.605191G>A	(Likely) benign	1 lab	0e0cba39bb
2:25013422 PTRHD1 AG>A	2	25013422	25013423	AG	A	PTRHD1	c.280del	NM_001013663.1	NP_001013685.1:p.(Leu94TrpfsTer40)	NC_000002.11:g.25013423del	(Likely) pathogenic	1 lab	0e0ddc2b1e
5:40936595 C7 G>A	5	40936595	40936595	G	A	C7	c.428+8G>A	NM_000587.2	NP_000578.2:p.?	NC_000005.9:g.40936595G>A	(Likely) benign	1 lab	0078376b17
6:50803842 TFAP2B G>A	6	50803842	50803842	G	A	TFAP2B	c.670G>A	NM_003221.3	NP_003212.2:p.(Val224Ile)	NC_000006.11:g.50803842G>A	VUS	1 lab	0e0de949e0
17:18027866 MYO15A A>C	17	18027866	18027866	A	C	MYO15A	c.3679A>C	NM_016239.3	NP_057323.3:p.(Met1227Leu)	NC_000017.10:g.18027866A>C	(Likely) benign	1 lab	0e0e52dab7
2:47202112 TTC7A G>T	2	47202112	47202112	G	T	TTC7A				NC_000002.11:g.47202112G>T	VUS	1 lab	0e0ee6d0bd
2:223161711 PAX3 CG>C	2	223161711	223161712	CG	C	PAX3	c.306del	NM_181457.4	NP_852122.1:p.(Gly103AlafsTer7)	NC_000002.11:g.223161712del	(Likely) pathogenic	1 lab	0e1667b03a
11:108138147 ATM C>T	11	108138147	108138147	C	T	ATM	c.2638+78C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108138147C>T	(Likely) benign	1 lab	0e183021c7
5:89953967 ADGRV1 A>G	5	89953967	89953967	A	G	ADGRV1	c.4624A>G	NM_032119.4	NP_115495.3:p.(Ile1542Val)	NC_000005.9:g.89953967A>G	(Likely) benign	1 lab	007e3cc018
1:113661918 LRIG2 C>T	1	113661918	113661918	C	T	LRIG2	c.2744C>T	NM_014813.2	NP_055628.1:p.(Thr915Ile)	NC_000001.10:g.113661918C>T	(Likely) benign	1 lab	007f088ac6
6:7108007 RREB1 A>T	6	7108007	7108007	A	T	RREB1	c.-285+6A>T	NM_001168344.1	NP_001161816.1:p.?	NC_000006.11:g.7108007A>T	(Likely) benign	1 lab	78e9916539
4:187209702 F11 G>T	4	187209702	187209702	G	T	F11	c.1812G>T	NM_000128.3	NP_000119.1:p.(Arg604=)	NC_000004.11:g.187209702G>T	(Likely) benign	1 lab	0e1e1cc6b8
2:220333981 SPEG G>T	2	220333981	220333981	G	T	SPEG	c.3595G>T	NM_005876.4	NP_005867.3:p.(Val1199Leu)	NC_000002.11:g.220333981G>T	VUS	1 lab	0e20a75040
1:94471020 ABCA4 C>T	1	94471020	94471020	C	T	ABCA4	c.6124G>A	NM_000350.2	NP_000341.2:p.(Val2042Ile)	NC_000001.10:g.94471020C>T	VUS	1 lab	0e21597e97
9:139400357 NOTCH1 G>A	9	139400357	139400357	G	A	NOTCH1	c.4015-24C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139400357G>A	(Likely) benign	1 lab	0e237134f3
12:56105932 ITGA7 A>C	12	56105932	56105932	A	C	ITGA7	c.14-14T>G	NM_001144997.1	NP_001138469.1:p.?	NC_000012.11:g.56105932A>C	(Likely) benign	1 lab	790fd7031d
1:156028185 LAMTOR2 C>A	1	156028185	156028185	C	A	LAMTOR2				NC_000001.10:g.156028185C>A	(Likely) pathogenic	1 lab	0e2970022b
3:42730218 KLHL40 G>A	3	42730218	42730218	G	A	KLHL40	c.1421+9G>A	NM_152393.4	NP_689606.2:p.?	NC_000003.11:g.42730218G>A	(Likely) benign	1 lab	007f6106bb
1:228509466 OBSCN A>G	1	228509466	228509466	A	G	OBSCN	c.17795A>G	NM_001271223.2	NP_001258152.2:p.(Asn5932Ser)	NC_000001.10:g.228509466A>G	(Likely) benign	1 lab	0e2b8bcb4a
12:21242854 SLCO1B3-SLCO1B7 C>T	12	21242854	21242854	C	T	SLCO1B3-SLCO1B7	c.2061C>T	NM_001371097.1	NP_001358026.1:p.(Phe687=)	NC_000012.11:g.21242854C>T	(Likely) benign	1 lab	7942f36371
7:101459382 CUX1 C>T	7	101459382	101459382	C	T	CUX1	c.63+9C>T	NM_001202543.1	NP_001189472.1:p.?	NC_000007.13:g.101459382C>T	(Likely) benign	1 lab	794d6b6a33
X:140335657 SPANXC G>T	X	140335657	140335657	G	T	SPANXC	c.287C>A	NM_022661.2	NP_073152.1:p.(Ala96Glu)	NC_000023.10:g.140335657G>T	VUS	1 lab	79a808b7e8
1:39550069 MACF1 C>T	1	39550069	39550069	C	T	MACF1	c.179C>T	NM_012090.4	NP_036222.3:p.(Ser60Leu)	NC_000001.10:g.39550069C>T	(Likely) benign	1 lab	79f887c60b
15:91310253 BLM G>A	15	91310253	91310253	G	A	BLM	c.2307G>A	NM_000057.4	NP_000048.1:p.(Lys769=)	NC_000015.9:g.91310253G>A	(Likely) pathogenic	1 lab	0e377d916e
10:73558852 CDH23 A>G	10	73558852	73558852	A	G	CDH23	c.7055-16A>G	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73558852A>G	(Likely) benign	1 lab	0e37a3e489
X:101092587 NXF5 C>T	X	101092587	101092587	C	T	NXF5	n.1319G>A	NR_028089.1		NC_000023.10:g.101092587C>T	(Likely) benign	1 lab	7a2b7a24f9
12:33031906 PKP2 T>G	12	33031906	33031906	T	G	PKP2	c.284A>C	NM_004572.3	NP_004563.2:p.(Asn95Thr)	NC_000012.11:g.33031906T>G	(Likely) benign	1 lab	0e3f6a6bc7
11:47371842 MYBPC3 A>AT	11	47371842	47371849	A	AT	MYBPC3	c.407-180dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371849dup	(Likely) benign	1 lab	0e40338d78
2:189899700 COL5A2 T>C	2	189899700	189899700	T	C	COL5A2	c.4295A>G	NM_000393.3	NP_000384.2:p.(Asp1432Gly)	NC_000002.11:g.189899700T>C	VUS	1 lab	0e419253ed
19:50721026 MYH14 A>G	19	50721026	50721026	A	G	MYH14	c.560A>G	NM_024729.3	NP_079005.3:p.(Gln187Arg)	NC_000019.9:g.50721026A>G	VUS	1 lab	0e428c1cd8
5:112163618 APC A>G	5	112163618	112163618	A	G	APC	c.1549-8A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112163618A>G	(Likely) pathogenic	1 lab	0e42f653c7
20:44757524 CD40 C>G	20	44757524	44757524	C	G	CD40	c.679C>G	NM_001250.4	NP_001241.1:p.(Pro227Ala)	NC_000020.10:g.44757524C>G	(Likely) benign	1 lab	0080bb09e9
5:180046069 FLT4 G>C	5	180046069	180046069	G	C	FLT4	c.2802C>G	NM_182925.4	NP_891555.2:p.(Asn934Lys)	NC_000005.9:g.180046069G>C	(Likely) pathogenic	1 lab	0e44f23b60
22:32174198 DEPDC5 A>G	22	32174198	32174198	A	G	DEPDC5	c.483+44A>G	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32174198A>G	(Likely) benign	1 lab	008abbf285
1:228463444 OBSCN C>G	1	228463444	228463444	C	G	OBSCN	c.7079-17C>G	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228463444C>G	(Likely) benign	1 lab	008cc7ad56
7:116339528 MET C>T	7	116339528	116339528	C	T	MET	c.390C>T	NM_000245.3	NP_000236.2:p.(Leu130=)	NC_000007.13:g.116339528C>T	(Likely) benign	1 lab	0e4a3b2212
1:152280658 FLG G>C	1	152280658	152280658	G	C	FLG	c.6704C>G	NM_002016.1	NP_002007.1:p.(Thr2235Arg)	NC_000001.10:g.152280658G>C	(Likely) benign	1 lab	0e4a740d72
15:90196066 KIF7 G>A	15	90196066	90196066	G	A	KIF7	c.96C>T	NM_198525.2	NP_940927.2:p.(His32=)	NC_000015.9:g.90196066G>A	(Likely) benign	1 lab	0e4c00586c
3:37042540 MLH1 G>C	3	37042540	37042540	G	C	MLH1	c.302G>C	NM_000249.4	NP_000240.1:p.(Gly101Ala)	NC_000003.11:g.37042540G>C	VUS	1 lab	0e4c69b07e
1:173884010 SERPINC1 A>T	1	173884010	173884010	A	T	SERPINC1	c.89T>A	NM_000488.3	NP_000479.1:p.(Val30Glu)	NC_000001.10:g.173884010A>T	VUS	1 lab	0e4d8d8d46
17:7788145 CHD3 C>CGAGGAG	17	7788145	7788166	C	CGAGGAG	CHD3	c.37_42dup	NM_001005271.2	NP_001005271.2:p.(Glu13_Glu14dup)	NC_000017.10:g.7788161_7788166dup	(Likely) benign	1 lab	7a57b07bf9
5:112174384 APC T>A	5	112174384	112174384	T	A	APC	c.3093T>A	NM_000038.6	NP_000029.2:p.(Tyr1031Ter)	NC_000005.9:g.112174384T>A	(Likely) pathogenic	1 lab	0e4ef1bc4a
16:15818778 MYH11 C>T	16	15818778	15818778	C	T	MYH11	c.3951G>A	NM_001040114.1	NP_001035203.1:p.(Val1317=)	NC_000016.9:g.15818778C>T	(Likely) benign	1 lab	0e51592dca
1:41285584 KCNQ4 C>T	1	41285584	41285584	C	T	KCNQ4	c.872C>T	NM_004700.3	NP_004691.2:p.(Pro291Leu)	NC_000001.10:g.41285584C>T	(Likely) pathogenic	1 lab	0e515c8aa5
12:39726490 KIF21A C>T	12	39726490	39726490	C	T	KIF21A	c.2759G>A	NM_001173464.1	NP_001166935.1:p.(Arg920His)	NC_000012.11:g.39726490C>T	VUS	1 lab	0e53639c91
6:3154951 TUBB2A G>A	6	3154951	3154951	G	A	TUBB2A				NC_000006.11:g.3154951G>A	VUS	1 lab	0e5487485b
2:168099932 XIRP2 C>T	2	168099932	168099932	C	T	XIRP2	c.2030C>T	NM_152381.5	NP_689594.4:p.(Ala677Val)	NC_000002.11:g.168099932C>T	(Likely) benign	1 lab	0e57e9f9b2
4:83552556 SCD5 A>C	4	83552556	83552556	A	C	SCD5	c.917T>G	NM_001037582.3	NP_001032671.2:p.(Leu306Arg)	NC_000004.11:g.83552556A>C	VUS	1 lab	0e59dec7cb
2:167129119 SCN9A G>A	2	167129119	167129119	G	A	SCN9A	c.3108C>T	NM_002977.3	NP_002968.1:p.(Ser1036=)	NC_000002.11:g.167129119G>A	(Likely) benign	1 lab	0e5a8409f2
9:130444789 STXBP1 G>A	9	130444789	130444789	G	A	STXBP1	c.1652G>A	NM_003165.3	NP_003156.1:p.(Arg551His)	NC_000009.11:g.130444789G>A	(Likely) pathogenic	1 lab	0e5d4fb081
7:30639639 GARS A>G	7	30639639	30639639	A	G	GARS				NC_000007.13:g.30639639A>G	VUS	1 lab	103ed4419e
2:179477098 TTN G>T	2	179477098	179477098	G	T	TTN	c.50154C>A	NM_001267550.2	NP_001254479.2:p.(Gly16718=)	NC_000002.11:g.179477098G>T	(Likely) benign	1 lab	0e5e765e80
20:2413320 TGM6 T>C	20	2413320	2413320	T	C	TGM6	c.*31T>C	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2413320T>C	(Likely) benign	1 lab	0e6058fbf4
20:57428872 GNAS T>C	20	57428872	57428872	T	C	GNAS	c.365T>C	NM_001077490.1	NP_001070958.1:p.(Leu122Ser)	NC_000020.10:g.57428872T>C	VUS	1 lab	7a903b4772
22:33254043 TIMP3 A>C	22	33254043	33254043	A	C	TIMP3	c.356A>C	NM_000362.5	NP_000353.1:p.(Asn119Thr)	NC_000022.10:g.33254043A>C	VUS	1 lab	0e61ccd5a0
2:167262918 SCN7A T>C	2	167262918	167262918	T	C	SCN7A	c.4221A>G	NM_002976.4	NP_002967.2:p.(Lys1407=)	NC_000002.11:g.167262918T>C	(Likely) benign	1 lab	0e6255c763
2:167141246 SCN9A A>G	2	167141246	167141246	A	G	SCN9A	c.1691T>C	NM_002977.3	NP_002968.1:p.(Ile564Thr)	NC_000002.11:g.167141246A>G	VUS	1 lab	0e66cfd768
3:37083790 MLH1 G>T	3	37083790	37083790	G	T	MLH1	c.1699G>T	NM_000249.4	NP_000240.1:p.(Asp567Tyr)	NC_000003.11:g.37083790G>T	VUS	1 lab	0e68fbb10e
4:110897315 EGF C>T	4	110897315	110897315	C	T	EGF	c.1977C>T	NM_001963.4	NP_001954.2:p.(Cys659=)	NC_000004.11:g.110897315C>T	(Likely) benign	1 lab	0e6b8093fc
6:6174866 F13A1 G>A	6	6174866	6174866	G	A	F13A1	c.1694C>T	NM_000129.3	NP_000120.2:p.(Pro565Leu)	NC_000006.11:g.6174866G>A	(Likely) benign	1 lab	0e6ee60aa1
16:2153908 PKD1 C>T	16	2153908	2153908	C	T	PKD1	c.8162-12G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2153908C>T	(Likely) benign	1 lab	1f14b96cbc
1:152280032 FLG T>C	1	152280032	152280032	T	C	FLG	c.7330A>G	NM_002016.1	NP_002007.1:p.(Lys2444Glu)	NC_000001.10:g.152280032T>C	(Likely) benign	1 lab	0e73371a7c
7:35242299 TBX20 G>A	7	35242299	35242299	G	A	TBX20	c.1087C>T	NM_001077653.2	NP_001071121.1:p.(Gln363Ter)	NC_000007.13:g.35242299G>A	VUS	1 lab	0e7447412e
X:25025414 ARX GGA>G	X	25025414	25025417	GGA	G	ARX	c.1260_1261del	NM_139058.2	NP_620689.1:p.(Pro421AlafsTer110)	NC_000023.10:g.25025416_25025417del	(Likely) pathogenic	1 lab	0e7529219b
9:126135831 CRB2 T>C	9	126135831	126135831	T	C	CRB2	c.3021T>C	NM_173689.6	NP_775960.4:p.(Ala1007=)	NC_000009.11:g.126135831T>C	(Likely) benign	1 lab	0e79aac0b6
12:6463603 SCNN1A C>A	12	6463603	6463603	C	A	SCNN1A	c.1360+1G>T	NM_001038.5	NP_001029.1:p.?	NC_000012.11:g.6463603C>A	(Likely) pathogenic	1 lab	0e7bced478
21:45649510 MISSING A>G	21	45649510	45649510	A	G	MISSING				NC_000021.8:g.45649510A>G	(Likely) benign	1 lab	0f1c3e9527
2:179427754 TTN C>T	2	179427754	179427754	C	T	TTN	c.83105G>A	NM_001267550.2	NP_001254479.2:p.(Arg27702Gln)	NC_000002.11:g.179427754C>T	VUS	1 lab	0e7e6b3a33
17:61995376 GH1 C>T	17	61995376	61995376	C	T	GH1	c.291+1G>A	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995376C>T	(Likely) pathogenic	1 lab	0e7ff01a1f
1:145416614 HJV G>T	1	145416614	145416614	G	T	HJV	c.959G>T	NM_213653.3	NP_998818.1:p.(Gly320Val)	NC_000001.10:g.145416614G>T	(Likely) pathogenic	1 lab	0e80dfb86f
2:166896101 SCN1A G>A	2	166896101	166896101	G	A	SCN1A	c.2421C>T	NM_001165963.1	NP_001159435.1:p.(Phe807=)	NC_000002.11:g.166896101G>A	(Likely) benign	1 lab	0e83835428
7:94252708 SGCE A>T	7	94252708	94252708	A	T	SGCE	c.392T>A	NM_003919.2	NP_003910.1:p.(Ile131Lys)	NC_000007.13:g.94252708A>T	(Likely) pathogenic	1 lab	0e83c816bf
X:601786 SHOX C>T	X	601786	601786	C	T	SHOX	c.597C>T	NM_000451.3	NP_000442.1:p.(Tyr199=)	NC_000023.10:g.601786C>T	(Likely) benign	1 lab	0e847336df
17:41223289 BRCA1 C>T	17	41223289	41223289	C	T	BRCA1	c.4676-34G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41223289C>T	(Likely) benign	1 lab	0e84bfac1e
X:153678072 FAM50A A>C	X	153678072	153678072	A	C	FAM50A	c.769A>C	NM_004699.4	NP_004690.1:p.(Ile257Leu)	NC_000023.10:g.153678072A>C	VUS	1 lab	0e8d9f4e1f
16:68844172 CDH1 G>C	16	68844172	68844172	G	C	CDH1	c.760G>C	NM_004360.3	NP_004351.1:p.(Asp254His)	NC_000016.9:g.68844172G>C	VUS	1 lab	0e9100e166
8:38282171 FGFR1 G>T	8	38282171	38282171	G	T	FGFR1	c.792C>A	NM_023110.2	NP_075598.2:p.(Asn264Lys)	NC_000008.10:g.38282171G>T	(Likely) pathogenic	1 lab	0e91f3fb60
3:38921614 SCN11A T>C	3	38921614	38921614	T	C	SCN11A	c.3220A>G	NM_014139.2	NP_054858.2:p.(Ile1074Val)	NC_000003.11:g.38921614T>C	(Likely) benign	1 lab	0e96b45ecf
9:34647855 IL11RA C>G	9	34647855	34647855	C	G	IL11RA				NC_000009.11:g.34647855C>G	(Likely) pathogenic	1 lab	c2d48861ba
X:153363118 MECP2 G>A	X	153363118	153363118	G	A	MECP2	c.5C>T	NM_001110792.1	NP_001104262.1:p.(Ala2Val)	NC_000023.10:g.153363118G>A	(Likely) pathogenic	1 lab	0e9e2bde19
2:169826656 ABCB11 C>T	2	169826656	169826656	C	T	ABCB11				NC_000002.11:g.169826656C>T	(Likely) pathogenic	1 lab	6023597798
6:42672184 PRPH2 GC>G	6	42672184	42672186	GC	G	PRPH2				NC_000006.11:g.42672186del	(Likely) pathogenic	1 lab	0ea0245678
19:55668803 TNNI3 T>C	19	55668803	55668803	T	C	TNNI3	c.12-127A>G	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668803T>C	(Likely) benign	1 lab	0ea0681d00
16:1525109 CLCN7 C>G	16	1525109	1525109	C	G	CLCN7				NC_000016.9:g.1525109C>G	(Likely) benign	1 lab	0ea0dda200
2:47637443 MSH2 C>T	2	47637443	47637443	C	T	MSH2	c.577C>T	NM_000251.2	NP_000242.1:p.(Gln193Ter)	NC_000002.11:g.47637443C>T	(Likely) pathogenic	1 lab	0ea1b488b1
4:79442799 FRAS1 GTT>G	4	79442799	79442809	GTT	G	FRAS1	c.10648+24_10648+25del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79442808_79442809del	(Likely) benign	1 lab	009a9b6442
1:196686918 CFH G>A	1	196686918	196686918	G	A	CFH	c.1696+2019G>A	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196686918G>A	(Likely) benign	1 lab	0ea1f55450
1:156105078 LMNA C>T	1	156105078	156105078	C	T	LMNA	c.911C>T	NM_170707.4	NP_733821.1:p.(Ala304Val)	NC_000001.10:g.156105078C>T	(Likely) benign	1 lab	0ea3a8bfe9
22:18923512 PRODH C>G	22	18923512	18923512	C	G	PRODH	c.273+16G>C	NM_016335.6	NP_057419.5:p.?	NC_000022.10:g.18923512C>G	(Likely) benign	1 lab	0ea3b7b3da
12:33031232 PKP2 A>G	12	33031232	33031232	A	G	PKP2	c.582T>C	NM_004572.3	NP_004563.2:p.(Tyr194=)	NC_000012.11:g.33031232A>G	(Likely) benign	1 lab	0ea673ebdc
10:112724543 SHOC2 G>A	10	112724543	112724543	G	A	SHOC2	c.427G>A	NM_007373.4	NP_031399.2:p.(Gly143Arg)	NC_000010.10:g.112724543G>A	(Likely) benign	1 lab	0ea766e3a5
5:137902868 HSPA9 GA>G	5	137902868	137902878	GA	G	HSPA9	c.717-17del	NM_004134.6	NP_004125.3:p.?	NC_000005.9:g.137902878del	(Likely) benign	1 lab	0ea8239a76
3:38755409 SCN10A G>T	3	38755409	38755409	G	T	SCN10A	c.3804+40C>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38755409G>T	(Likely) benign	1 lab	0eab1770c4
11:61276642 LRRC10B G>T	11	61276642	61276642	G	T	LRRC10B	c.172G>T	NM_001145077.1	NP_001138549.1:p.(Glu58Ter)	NC_000011.9:g.61276642G>T	VUS	1 lab	0eab647738
8:143822661 SLURP1 C>G	8	143822661	143822661	C	G	SLURP1	c.212G>C	NM_020427.3	NP_065160.1:p.(Arg71Pro)	NC_000008.10:g.143822661C>G	(Likely) pathogenic	1 lab	0eada04d2d
1:247588049 NLRP3 C>T	1	247588049	247588049	C	T	NLRP3	c.1298C>T	NM_001243133.2	NP_001230062.1:p.(Thr433Ile)	NC_000001.10:g.247588049C>T	(Likely) pathogenic	1 lab	009fed8aea
1:27094450 ARID1A G>A	1	27094450	27094450	G	A	ARID1A	c.3158G>A	NM_006015.4	NP_006006.3:p.(Arg1053His)	NC_000001.10:g.27094450G>A	VUS	1 lab	0eb12883cd
11:2909513 SLC67A1-AS C>CG	11	2909513	2909518	C	CG	SLC67A1-AS	n.990dup	NR_169304.1		NC_000011.9:g.2909518dup	VUS	1 lab	7da818508c
1:229567867 ACTA1 C>G	1	229567867	229567867	C	G	ACTA1	c.682G>C	NM_001100.3	NP_001091.1:p.(Glu228Gln)	NC_000001.10:g.229567867C>G	(Likely) pathogenic	1 lab	0eb4e1acab
11:64956122 CAPN1 C>T	11	64956122	64956122	C	T	CAPN1	c.1070C>T	NM_005186.3	NP_005177.2:p.(Ala357Val)	NC_000011.9:g.64956122C>T	VUS	1 lab	0eb87a49e7
4:654397 PDE6B C>T	4	654397	654397	C	T	PDE6B	c.1609C>T	NM_000283.4	NP_000274.3:p.(Gln537Ter)	NC_000004.11:g.654397C>T	(Likely) pathogenic	1 lab	0ebaa9e32d
1:228550390 OBSCN A>AG	1	228550390	228550396	A	AG	OBSCN	c.21652dup	NM_001271223.2	NP_001258152.2:p.(Ala7218GlyfsTer121)	NC_000001.10:g.228550396dup	(Likely) benign	1 lab	0ec1f8b4c8
2:99013440 CNGA3 C>T	2	99013440	99013440	C	T	CNGA3	c.1807C>T	NM_001298.3	NP_001289.1:p.(Arg603Trp)	NC_000002.11:g.99013440C>T	VUS	1 lab	0ec6b0b22b
3:132409390 NPHP3 G>A	3	132409390	132409390	G	A	NPHP3	c.2675C>T	NM_153240.4	NP_694972.3:p.(Ser892Phe)	NC_000003.11:g.132409390G>A	VUS	1 lab	0ec76dd23e
2:215848528 ABCA12 T>C	2	215848528	215848528	T	C	ABCA12	c.4225A>G	NM_173076.2	NP_775099.2:p.(Ile1409Val)	NC_000002.11:g.215848528T>C	(Likely) benign	1 lab	0ec7745bb5
8:144993438 PLEC C>T	8	144993438	144993438	C	T	PLEC	c.10962G>A	NM_201380.4	NP_958782.1:p.(Thr3654=)	NC_000008.10:g.144993438C>T	(Likely) benign	1 lab	00a32471d7
10:28897247 WAC C>A	10	28897247	28897247	C	A	WAC	c.1052C>A	NM_016628.4	NP_057712.2:p.(Ser351Ter)	NC_000010.10:g.28897247C>A	(Likely) pathogenic	1 lab	0ecacc47af
6:49582617 RHAG C>T	6	49582617	49582617	C	T	RHAG	c.641-51G>A	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49582617C>T	(Likely) benign	1 lab	00a32deec4
17:10433361 MYH2 T>C	17	10433361	10433361	T	C	MYH2				NC_000017.10:g.10433361T>C	VUS	1 lab	0ed187e858
X:153033309 PLXNB3 G>A	X	153033309	153033309	G	A	PLXNB3				NC_000023.10:g.153033309G>A	(Likely) benign	1 lab	60445c94ce
14:21873980 CHD8 AC>A	14	21873980	21873981	AC	A	CHD8	c.2950del	NM_001170629.2	NP_001164100.1:p.(Val984Ter)	NC_000014.8:g.21873981del	(Likely) pathogenic	1 lab	0edeec8db6
2:167141133 SCN9A T>C	2	167141133	167141133	T	C	SCN9A	c.1804A>G	NM_002977.3	NP_002968.1:p.(Ile602Val)	NC_000002.11:g.167141133T>C	(Likely) benign	1 lab	0ee0120bf0
8:63985634 TTPA T>C	8	63985634	63985634	T	C	TTPA				NC_000008.10:g.63985634T>C	VUS	1 lab	0ee0fd6927
10:18429790 CACNB2 C>A	10	18429790	18429790	C	A	CACNB2	c.120+5C>A	NM_201596.2	NP_963890.2:p.?	NC_000010.10:g.18429790C>A	(Likely) benign	1 lab	0ee1d96ea2
16:75690399 TERF2IP C>T	16	75690399	75690399	C	T	TERF2IP	c.1090C>T	NM_018975.3	NP_061848.2:p.(Arg364Ter)	NC_000016.9:g.75690399C>T	VUS	1 lab	0ee223d73b
X:38169894 RPGR C>A	X	38169894	38169894	C	A	RPGR	c.752G>T	NM_001034853.2	NP_001030025.1:p.(Gly251Val)	NC_000023.10:g.38169894C>A	(Likely) pathogenic	1 lab	0ee423d924
6:149700661 TAB2 T>C	6	149700661	149700661	T	C	TAB2	c.1603+7T>C	NM_015093.5	NP_055908.1:p.?	NC_000006.11:g.149700661T>C	(Likely) benign	1 lab	0eebf7e30e
11:108172425 ATM C>T	11	108172425	108172425	C	T	ATM	c.5228C>T	NM_000051.3	NP_000042.3:p.(Thr1743Ile)	NC_000011.9:g.108172425C>T	(Likely) pathogenic	1 lab	0eed26d426
17:1554418 PRPF8 C>G	17	1554418	1554418	C	G	PRPF8	c.6837G>C	NM_006445.3	NP_006436.3:p.(Trp2279Cys)	NC_000017.10:g.1554418C>G	(Likely) pathogenic	1 lab	0ef14b02b9
9:75309494 TMC1 C>T	9	75309494	75309494	C	T	TMC1	c.100C>T	NM_138691.3	NP_619636.2:p.(Arg34Ter)	NC_000009.11:g.75309494C>T	(Likely) pathogenic	1 lab	0ef21e335a
2:230701654 TRIP12 G>A	2	230701654	230701654	G	A	TRIP12	c.1180C>T	NM_001284214.1	NP_001271143.1:p.(Arg394Ter)	NC_000002.11:g.230701654G>A	(Likely) pathogenic	1 lab	0ef281d981
21:46330685 ITGB2 G>T	21	46330685	46330685	G	T	ITGB2	c.13C>A	NM_000211.3	NP_000202.2:p.(Arg5Ser)	NC_000021.8:g.46330685G>T	(Likely) benign	1 lab	00a832ee79
17:41277364 BRCA1 C>A	17	41277364	41277364	C	A	BRCA1	c.-96G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277364C>A	(Likely) benign	1 lab	0ef524dde4
20:57429094 GNAS C>T	20	57429094	57429094	C	T	GNAS	c.587C>T	NM_001077490.1	NP_001070958.1:p.(Ser196Leu)	NC_000020.10:g.57429094C>T	(Likely) benign	1 lab	7bb176b9b3
1:5950982 NPHP4 G>A	1	5950982	5950982	G	A	NPHP4	c.2250C>T	NM_015102.5	NP_055917.1:p.(Asp750=)	NC_000001.10:g.5950982G>A	(Likely) benign	1 lab	00a83ddeb0
7:6013163 PMS2 C>T	7	6013163	6013163	C	T	PMS2	c.2456G>A	NM_000535.6	NP_000526.2:p.(Gly819Glu)	NC_000007.13:g.6013163C>T	VUS	1 lab	0ef6179e57
8:145640292 SLC39A4 C>A	8	145640292	145640292	C	A	SLC39A4	c.730-12G>T	NM_017767.3	NP_060237.3:p.?	NC_000008.10:g.145640292C>A	(Likely) benign	1 lab	00ac40073f
20:57429074 GNAS A>C	20	57429074	57429074	A	C	GNAS	c.567A>C	NM_001077490.1	NP_001070958.1:p.(Ala189=)	NC_000020.10:g.57429074A>C	VUS	1 lab	7bc0514843
19:49699760 TRPM4 C>G	19	49699760	49699760	C	G	TRPM4	c.2274C>G	NM_017636.3	NP_060106.2:p.(Cys758Trp)	NC_000019.9:g.49699760C>G	(Likely) benign	1 lab	0efa6c466c
1:245018872 HNRNPU T>G	1	245018872	245018872	T	G	HNRNPU	c.2206A>C	NM_031844.2	NP_114032.2:p.(Met736Leu)	NC_000001.10:g.245018872T>G	VUS	1 lab	0f037c4c13
4:186329553 UFSP2 A>G	4	186329553	186329553	A	G	UFSP2	c.868T>C	NM_018359.5	NP_060829.2:p.(Tyr290His)	NC_000004.11:g.186329553A>G	(Likely) pathogenic	1 lab	0f0628c1b7
3:38770010 SCN10A C>G	3	38770010	38770010	C	G	SCN10A	c.2640+23G>C	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38770010C>G	(Likely) benign	1 lab	0f0802844f
20:42744665 JPH2 TG>T	20	42744665	42744666	TG	T	JPH2	c.1649del	NM_020433.4	NP_065166.2:p.(Ala550AspfsTer96)	NC_000020.10:g.42744666del	(Likely) benign	1 lab	0f0c1b6105
7:91668073 AKAP9 T>C	7	91668073	91668073	T	C	AKAP9	c.4679T>C	NM_005751.4	NP_005742.4:p.(Ile1560Thr)	NC_000007.13:g.91668073T>C	(Likely) benign	1 lab	0f0cfedea2
12:80998874 MISSING C>T	12	80998874	80998874	C	T	MISSING				NC_000012.11:g.80998874C>T	VUS	1 lab	0f0faaa9a4
2:223096904 PAX3 C>A	2	223096904	223096904	C	A	PAX3	c.685G>T	NM_181459.3	NP_852124.1:p.(Glu229Ter)	NC_000002.11:g.223096904C>A	(Likely) pathogenic	1 lab	0f109161e6
14:23884524 MYH7 C>A	14	23884524	23884524	C	A	MYH7	c.5284-45G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23884524C>A	(Likely) benign	1 lab	0f12a5d6b0
12:6442701 TNFRSF1A G>A	12	6442701	6442701	G	A	TNFRSF1A	c.323-19C>T	NM_001065.3	NP_001056.1:p.?	NC_000012.11:g.6442701G>A	(Likely) benign	1 lab	00afd5b067
14:23856993 MYH6 A>C	14	23856993	23856993	A	C	MYH6	c.4499T>G	NM_002471.4	NP_002462.2:p.(Phe1500Cys)	NC_000014.8:g.23856993A>C	VUS	1 lab	0f18466bd9
10:55996619 PCDH15 A>T	10	55996619	55996619	A	T	PCDH15	c.949T>A	NM_033056.4	NP_149045.3:p.(Ser317Thr)	NC_000010.10:g.55996619A>T	VUS	1 lab	0f1bcd5ce5
19:1221260 STK11 C>T	19	1221260	1221260	C	T	STK11	c.783C>T	NM_000455.5	NP_000446.1:p.(Tyr261=)	NC_000019.9:g.1221260C>T	(Likely) benign	1 lab	0f1d624861
11:2909505 SLC67A1-AS T>TGGGGGGGTG	11	2909505	2909513	T	TGGGGGGGTG	SLC67A1-AS	n.998_999insCACCCCCCC	NR_169304.1		NC_000011.9:g.2909512_2909513insTGGGGGGGG	VUS	1 lab	7c16b9aa93
3:48612674 COL7A1 C>A	3	48612674	48612674	C	A	COL7A1	c.6182G>T	NM_000094.3	NP_000085.1:p.(Gly2061Val)	NC_000003.11:g.48612674C>A	(Likely) pathogenic	1 lab	0f2361e75d
X:13754657 OFD1 C>T	X	13754657	13754657	C	T	OFD1	c.172C>T	NM_003611.2	NP_003602.1:p.(Gln58Ter)	NC_000023.10:g.13754657C>T	(Likely) pathogenic	1 lab	0f24d6b858
14:23866766 MYH6 A>G	14	23866766	23866766	A	G	MYH6	c.1948T>C	NM_002471.3	NP_002462.2:p.(Ser650Pro)	NC_000014.8:g.23866766A>G	VUS	1 lab	0f2a09efdd
10:89692832 PTEN G>T	10	89692832	89692832	G	T	PTEN	c.316G>T	NM_000314.8	NP_000305.3:p.(Glu106Ter)	NC_000010.10:g.89692832G>T	(Likely) pathogenic	1 lab	0f2d924a10
1:17084078 MST1L G>A	1	17084078	17084078	G	A	MST1L	c.1843C>T	NM_001271733.1	NP_001258662.1:p.(Arg615Ter)	NC_000001.10:g.17084078G>A	VUS	1 lab	7d071e8d0d
18:6966172 LAMA1 G>T	18	6966172	6966172	G	T	LAMA1	c.7024C>A	NM_005559.3	NP_005550.2:p.(Leu2342Ile)	NC_000018.9:g.6966172G>T	VUS	1 lab	0f35c18f7b
22:38119213 TRIOBP G>A	22	38119213	38119213	G	A	TRIOBP	c.650G>A	NM_001039141.2	NP_001034230.1:p.(Ser217Asn)	NC_000022.10:g.38119213G>A	(Likely) benign	1 lab	0f360caa3a
4:120214291 USP53 T>C	4	120214291	120214291	T	C	USP53	c.3147T>C	NM_019050.2	NP_061923.2:p.(Tyr1049=)	NC_000004.11:g.120214291T>C	(Likely) benign	1 lab	0f36f76370
11:121008505 TECTA G>A	11	121008505	121008505	G	A	TECTA				NC_000011.9:g.121008505G>A	VUS	1 lab	0f38512da7
2:179399142 TTN G>T	2	179399142	179399142	G	T	TTN	c.102200C>A	NM_001267550.2	NP_001254479.2:p.(Ala34067Asp)	NC_000002.11:g.179399142G>T	VUS	1 lab	0f3a1dad47
X:153001670 ABCD1 G>A	X	153001670	153001670	G	A	ABCD1	c.1186G>A	NM_000033.3	NP_000024.2:p.(Ala396Thr)	NC_000023.10:g.153001670G>A	(Likely) pathogenic	1 lab	0f3b05c352
11:62402393 GANAB G>A	11	62402393	62402393	G	A	GANAB	c.460C>T	NM_198335.4	NP_938149.2:p.(Arg154Trp)	NC_000011.9:g.62402393G>A	(Likely) benign	1 lab	00b1259696
X:38158220 RPGR G>A	X	38158220	38158220	G	A	RPGR	c.1234C>T	NM_001034853.1	NP_001030025.1:p.(Arg412Ter)	NC_000023.10:g.38158220G>A	(Likely) pathogenic	1 lab	0f40052fd5
16:15844058 MYH11 C>G	16	15844058	15844058	C	G	MYH11	c.1995G>C	NM_002474.3	NP_002465.1:p.(Met665Ile)	NC_000016.9:g.15844058C>G	VUS	1 lab	0f40c1cff2
17:42330695 SLC4A1 C>T	17	42330695	42330695	C	T	SLC4A1	c.2102G>A	NM_000342.3	NP_000333.1:p.(Gly701Asp)	NC_000017.10:g.42330695C>T	(Likely) pathogenic	1 lab	0f469cec63
2:179589034 TTN T>G	2	179589034	179589034	T	G	TTN	c.17336A>C	NM_133378.4	NP_596869.4:p.(Gln5779Pro)	NC_000002.11:g.179589034T>G	VUS	1 lab	0f4d03446d
10:89692898 PTEN A>G	10	89692898	89692898	A	G	PTEN	c.382A>G	NM_000314.4	NP_000305.3:p.(Lys128Glu)	NC_000010.10:g.89692898A>G	(Likely) pathogenic	1 lab	0f4d61616c
17:48268806 COL1A1 C>T	17	48268806	48268806	C	T	COL1A1	c.2173G>A	NM_000088.3	NP_000079.2:p.(Gly725Ser)	NC_000017.10:g.48268806C>T	(Likely) pathogenic	1 lab	0f4ee5c5dc
12:8800737 MFAP5 G>A	12	8800737	8800737	G	A	MFAP5	c.472C>T	NM_003480.4	NP_003471.1:p.(Arg158Ter)	NC_000012.11:g.8800737G>A	VUS	1 lab	0f50972d7a
6:32007782 CYP21A2 G>T	6	32007782	32007782	G	T	CYP21A2	c.739G>T	NM_000500.7	NP_000491.4:p.(Glu247Ter)	NC_000006.11:g.32007782G>T	(Likely) pathogenic	1 lab	0f52040465
2:168105216 XIRP2 C>T	2	168105216	168105216	C	T	XIRP2	c.7314C>T	NM_152381.5	NP_689594.4:p.(Asn2438=)	NC_000002.11:g.168105216C>T	(Likely) benign	1 lab	0f533c9d36
19:33355542 SLC7A9 C>G	19	33355542	33355542	C	G	SLC7A9	c.228G>C	NM_014270.5	NP_055085.1:p.(Ala76=)	NC_000019.9:g.33355542C>G	(Likely) benign	1 lab	00b96f58d2
1:241676935 FH T>A	1	241676935	241676935	T	A	FH	c.346A>T	NM_000143.4	NP_000134.2:p.(Ile116Phe)	NC_000001.10:g.241676935T>A	(Likely) benign	1 lab	0f548f7736
9:129455845 LMX1B G>A	9	129455845	129455845	G	A	LMX1B	c.784G>A	NM_002316.3	NP_002307.2:p.(Val262Met)	NC_000009.11:g.129455845G>A	(Likely) pathogenic	1 lab	0f56f0300e
7:156799291 MNX1 C>G	7	156799291	156799291	C	G	MNX1	c.98G>C	NM_001165255.1	NP_001158727.1:p.(Arg33Pro)	NC_000007.13:g.156799291C>G	(Likely) pathogenic	1 lab	00ba4dd40a
X:25031038 ARX C>T	X	25031038	25031038	C	T	ARX	c.1073+1G>A	NM_139058.2	NP_620689.1:p.?	NC_000023.10:g.25031038C>T	(Likely) pathogenic	1 lab	0f6a3c9027
16:23635474 PALB2 G>A	16	23635474	23635474	G	A	PALB2	c.2749-59C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23635474G>A	(Likely) benign	1 lab	0f737e21d5
2:198353203 HSPD1 T>C	2	198353203	198353203	T	C	HSPD1	c.1228A>G	NM_002156.4	NP_002147.2:p.(Ser410Gly)	NC_000002.11:g.198353203T>C	VUS	1 lab	0f754c24a5
2:197735707 PGAP1 G>A	2	197735707	197735707	G	A	PGAP1				NC_000002.11:g.197735707G>A	VUS	1 lab	0f77128590
5:90020527 ADGRV1 G>A	5	90020527	90020527	G	A	ADGRV1	c.9749-122G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90020527G>A	(Likely) benign	1 lab	00bc9a5740
19:1221161 STK11 C>T	19	1221161	1221161	C	T	STK11	c.735-51C>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1221161C>T	(Likely) benign	1 lab	0f7b2ed6aa
17:18057079 MYO15A C>A	17	18057079	18057079	C	A	MYO15A	c.7967-10C>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18057079C>A	VUS	1 lab	0f7daf1ce4
2:179428017 TTN C>T	2	179428017	179428017	C	T	TTN	c.82842G>A	NM_001267550.2	NP_001254479.2:p.(Ala27614=)	NC_000002.11:g.179428017C>T	(Likely) benign	1 lab	0f814399ac
17:44117119 KANSL1 A>G	17	44117119	44117119	A	G	KANSL1				NC_000017.10:g.44117119A>G	(Likely) benign	1 lab	0f81f5a67d
2:166912923 SCN1A T>C	2	166912923	166912923	T	C	SCN1A	c.471A>G	NM_001165963.3	NP_001159435.1:p.(Val157=)	NC_000002.11:g.166912923T>C	(Likely) benign	1 lab	00bcff12bb
16:30001129 TAOK2 G>T	16	30001129	30001129	G	T	TAOK2	c.2445+3G>T	NM_004783.3	NP_004774.1:p.?	NC_000016.9:g.30001129G>T	(Likely) benign	1 lab	7daae3b14d
2:109347947 RANBP2 T>G	2	109347947	109347947	T	G	RANBP2	c.405+17T>G	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109347947T>G	(Likely) benign	1 lab	0f8629603f
X:135957493 RBMX G>A	X	135957493	135957493	G	A	RBMX	c.706C>T	NM_002139.3	NP_002130.2:p.(Pro236Ser)	NC_000023.10:g.135957493G>A	VUS	1 lab	0f87c77a56
2:38298067 CYP1B1 T>TTAGAAAGTTCTTCGCCAATGCACCGCC	2	38298067	38298095	T	TTAGAAAGTTCTTCGCCAATGCACCGCC	CYP1B1	c.1403_1429dup	NM_000104.3	NP_000095.2:p.(Arg468_Ser476dup)	NC_000002.11:g.38298069_38298095dup	VUS	1 lab	0f89f9296e
5:39201939 FYB1 G>A	5	39201939	39201939	G	A	FYB1	c.1124C>T	NM_001465.6	NP_001456.3:p.(Ser375Phe)	NC_000005.9:g.39201939G>A	(Likely) benign	1 lab	00bd9d3051
1:146731500 CHD1L G>T	1	146731500	146731500	G	T	CHD1L	c.504G>T	NM_004284.6	NP_004275.4:p.(Trp168Cys)	NC_000001.10:g.146731500G>T	VUS	1 lab	00c019a400
5:14716824 ANKH GGAA>G	5	14716824	14716831	GGAA	G	ANKH	c.1129_1131del	NM_054027.4	NP_473368.1:p.(Phe377del)	NC_000005.9:g.14716829_14716831del	(Likely) pathogenic	1 lab	0f8b4ff7f8
8:145740707 RECQL4 CA>C	8	145740707	145740708	CA	C	RECQL4	c.1390+2del	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145740708del	(Likely) pathogenic	1 lab	0f8e737721
19:42753836 ERF C>T	19	42753836	42753836	C	T	ERF	c.428G>A	NM_006494.3	NP_006485.2:p.(Arg143His)	NC_000019.9:g.42753836C>T	VUS	1 lab	0f95652da1
19:42364847 RPS19 G>C	19	42364847	42364847	G	C	RPS19	c.3G>C	NM_001022.4	NP_001013.1:p.(Met1?)	NC_000019.9:g.42364847G>C	(Likely) pathogenic	1 lab	0f9cdafbf9
17:27908793 GIT1 G>C	17	27908793	27908793	G	C	GIT1	c.685C>G	NM_001085454.1	NP_001078923.1:p.(Arg229Gly)	NC_000017.10:g.27908793G>C	VUS	1 lab	0f9ffa7254
6:76657235 IMPG1 G>A	6	76657235	76657235	G	A	IMPG1	c.1840C>T	NM_001563.4	NP_001554.2:p.(Arg614Ter)	NC_000006.11:g.76657235G>A	(Likely) pathogenic	1 lab	0fa1f86566
7:128492763 FLNC C>T	7	128492763	128492763	C	T	FLNC	c.5961C>T	NM_001458.4	NP_001449.3:p.(Asn1987=)	NC_000007.13:g.128492763C>T	(Likely) benign	1 lab	0fa24bcde9
2:131355559 CFC1 C>T	2	131355559	131355559	C	T	CFC1	c.248-4G>A	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131355559C>T	(Likely) benign	1 lab	0fa3797c58
3:8775547 CAV3 T>TC	3	8775547	8775553	T	TC	CAV3	c.-10dup	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8775553dup	(Likely) benign	1 lab	0fa4b1cc98
1:165324758 LMX1A G>T	1	165324758	165324758	G	T	LMX1A	c.39C>A	NM_177398.4	NP_796372.1:p.(Ser13Arg)	NC_000001.10:g.165324758G>T	(Likely) benign	1 lab	0fa6d933f2
12:102869435 IGF1 C>A	12	102869435	102869435	C	A	IGF1	c.206G>T	NM_000618.5	NP_000609.1:p.(Arg69Met)	NC_000012.11:g.102869435C>A	VUS	1 lab	0fad835262
15:28986431 WHAMMP2 T>G	15	28986431	28986431	T	G	WHAMMP2	n.777+2T>G	NR_026589.1		NC_000015.9:g.28986431T>G	(Likely) benign	1 lab	7e150c4b1d
18:53303119 TCF4 T>A	18	53303119	53303119	T	A	TCF4	c.10A>T	NM_001243226.1	NP_001230155.1:p.(Lys4Ter)	NC_000018.9:g.53303119T>A	VUS	1 lab	7eb958bd59
7:44178528 MYL7 C>CT	7	44178528	44178531	C	CT	MYL7	c.519dup	NM_021223.2	NP_067046.1:p.(Glu174ArgfsTer?)	NC_000007.13:g.44178531dup	VUS	1 lab	0fb063f8c5
20:61162233 MIR1-1HG G>A	20	61162233	61162233	G	A	MIR1-1HG	c.46G>A	NM_001302812.1	NP_001289741.1:p.(Ala16Thr)	NC_000020.10:g.61162233G>A	(Likely) benign	1 lab	7f25e92ca2
11:680974 DEAF1 G>A	11	680974	680974	G	A	DEAF1	c.986C>T	NM_021008.4	NP_066288.2:p.(Ala329Val)	NC_000011.9:g.680974G>A	VUS	1 lab	0fb8c6786d
2:162276769 TBR1 G>A	2	162276769	162276769	G	A	TBR1	c.1190+1G>A	NM_006593.2	NP_006584.1:p.?	NC_000002.11:g.162276769G>A	(Likely) pathogenic	1 lab	0fbf859b70
X:153595197 FLNA A>C	X	153595197	153595197	A	C	FLNA				NC_000023.10:g.153595197A>C	(Likely) pathogenic	1 lab	1036dfd119
17:79478418 ACTG1 A>G	17	79478418	79478418	A	G	ACTG1	c.598T>C	NM_001614.3	NP_001605.1:p.(Phe200Leu)	NC_000017.10:g.79478418A>G	(Likely) pathogenic	1 lab	0fc291b89f
12:46245720 ARID2 C>T	12	46245720	46245720	C	T	ARID2	c.3814C>T	NM_152641.3	NP_689854.2:p.(Arg1272Ter)	NC_000012.11:g.46245720C>T	(Likely) pathogenic	1 lab	0fc8b272c0
5:14394211 TRIO G>A	5	14394211	14394211	G	A	TRIO	c.4283G>A	NM_007118.2	NP_009049.2:p.(Arg1428Gln)	NC_000005.9:g.14394211G>A	(Likely) pathogenic	1 lab	0fc913712b
16:3726031 TRAP1 G>A	16	3726031	3726031	G	A	TRAP1	c.814+6C>T	NM_016292.3	NP_057376.2:p.?	NC_000016.9:g.3726031G>A	(Likely) benign	1 lab	37e50d2094
16:4387028 GLIS2 G>A	16	4387028	4387028	G	A	GLIS2	c.1078G>A	NM_032575.2	NP_115964.2:p.(Ala360Thr)	NC_000016.9:g.4387028G>A	VUS	1 lab	0fcea8965f
10:69970504 MYPN C>T	10	69970504	69970504	C	T	MYPN	c.*292C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69970504C>T	(Likely) benign	1 lab	0fcf95a06f
2:215593429 BARD1 A>G	2	215593429	215593429	A	G	BARD1	c.2305T>C	NM_000465.4	NP_000456.2:p.(Ser769Pro)	NC_000002.11:g.215593429A>G	VUS	1 lab	0fd0084caa
X:55041430 ALAS2 A>G	X	55041430	55041430	A	G	ALAS2	c.1187T>C	NM_000032.4	NP_000023.2:p.(Val396Ala)	NC_000023.10:g.55041430A>G	VUS	1 lab	0fd55c2716
14:102499726 DYNC1H1 C>G	14	102499726	102499726	C	G	DYNC1H1	c.10318C>G	NM_001376.4	NP_001367.2:p.(Leu3440Val)	NC_000014.8:g.102499726C>G	VUS	1 lab	0fd5b3e017
13:32903567 BRCA2 T>G	13	32903567	32903567	T	G	BRCA2	c.632-13T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903567T>G	(Likely) benign	1 lab	0fd7d94460
10:50669519 ERCC6 G>A	10	50669519	50669519	G	A	ERCC6	c.3862C>T	NM_000124.2	NP_000115.1:p.(Arg1288Ter)	NC_000010.10:g.50669519G>A	(Likely) pathogenic	1 lab	0fd8c0e714
1:201336991 TNNT2 T>G	1	201336991	201336991	T	G	TNNT2	c.134-57A>C	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201336991T>G	(Likely) benign	1 lab	0fd8c0fa9b
11:47361334 MYBPC3 G>A	11	47361334	47361334	G	A	MYBPC3	c.1935C>T	NM_000256.3	NP_000247.2:p.(Pro645=)	NC_000011.9:g.47361334G>A	(Likely) benign	1 lab	0fdc7318b7
1:209964227 IRF6 C>G	1	209964227	209964227	C	G	IRF6	c.673G>C	NM_006147.4	NP_006138.1:p.(Asp225His)	NC_000001.10:g.209964227C>G	(Likely) pathogenic	1 lab	0fdd0e6f00
1:11193252 MTOR C>T	1	11193252	11193252	C	T	MTOR	c.5249G>A	NM_004958.4	NP_004949.1:p.(Cys1750Tyr)	NC_000001.10:g.11193252C>T	VUS	1 lab	0fdf186469
X:101092486 NXF5 G>A	X	101092486	101092486	G	A	NXF5	n.1420C>T	NR_028089.1		NC_000023.10:g.101092486G>A	(Likely) benign	1 lab	801733f041
5:55243420 IL6ST TAAAA>T	5	55243420	55243445	TAAAA	T	IL6ST	c.1841-7_1841-4del	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55243442_55243445del	(Likely) benign	1 lab	00c29c0288
1:2453171 PANK4 C>G	1	2453171	2453171	C	G	PANK4	c.193G>C	NM_018216.4	NP_060686.3:p.(Asp65His)	NC_000001.10:g.2453171C>G	VUS	1 lab	0fe4e79c82
11:46760629 F2 T>A	11	46760629	46760629	T	A	F2	c.1686T>A	NM_000506.3	NP_000497.1:p.(Asp562Glu)	NC_000011.9:g.46760629T>A	(Likely) pathogenic	1 lab	0fe545d3d4
2:227872069 COL4A4 C>T	2	227872069	227872069	C	T	COL4A4	c.5045G>A	NM_000092.4	NP_000083.3:p.(Arg1682Gln)	NC_000002.11:g.227872069C>T	VUS	1 lab	1f15f8071a
X:99657662 PCDH19 G>A	X	99657662	99657662	G	A	PCDH19				NC_000023.10:g.99657662G>A	VUS	1 lab	0fe97193b8
5:140960399 DIAPH1 T>C	5	140960399	140960399	T	C	DIAPH1	c.736A>G	NM_005219.4	NP_005210.3:p.(Arg246Gly)	NC_000005.9:g.140960399T>C	(Likely) benign	1 lab	0fe9f8cd87
19:18980818 GDF1 T>C	19	18980818	18980818	T	C	GDF1	c.299A>G	NM_001492.6	NP_001483.3:p.(Asn100Ser)	NC_000019.9:g.18980818T>C	VUS	1 lab	0fecb4f929
5:112175328 APC C>A	5	112175328	112175328	C	A	APC	c.4037C>A	NM_000038.6	NP_000029.2:p.(Ser1346Ter)	NC_000005.9:g.112175328C>A	(Likely) pathogenic	1 lab	0fed3259e9
1:156377627 MIR9-1HG C>A	1	156377627	156377627	C	A	MIR9-1HG	n.349-3234G>T	NR_135260.1		NC_000001.10:g.156377627C>A	(Likely) benign	1 lab	7f543149d5
9:131367576 SPTAN1 T>G	9	131367576	131367576	T	G	SPTAN1	c.3866T>G	NM_001130438.2	NP_001123910.1:p.(Val1289Gly)	NC_000009.11:g.131367576T>G	VUS	1 lab	0ff0caeeca
11:108121562 ATM G>A	11	108121562	108121562	G	A	ATM	c.1370G>A	NM_000051.3	NP_000042.3:p.(Arg457Gln)	NC_000011.9:g.108121562G>A	(Likely) benign	1 lab	0ff0dfc57b
8:61777587 CHD7 G>T	8	61777587	61777587	G	T	CHD7				NC_000008.10:g.61777587G>T	(Likely) pathogenic	1 lab	0ff1045c53
3:9483928 SETD5 AG>A	3	9483928	9483930	AG	A	SETD5				NC_000003.11:g.9483930del	(Likely) pathogenic	1 lab	0ff1f2f9e4
8:38283676 FGFR1 C>T	8	38283676	38283676	C	T	FGFR1	c.709G>A	NM_023110.2	NP_075598.2:p.(Gly237Ser)	NC_000008.10:g.38283676C>T	(Likely) pathogenic	1 lab	0ff3545bdf
5:43653246 NNT G>A	5	43653246	43653246	G	A	NNT	c.1990G>A	NM_182977.3	NP_892022.2:p.(Gly664Arg)	NC_000005.9:g.43653246G>A	(Likely) pathogenic	1 lab	0ff38cc78f
14:51214784 NIN C>T	14	51214784	51214784	C	T	NIN	c.4990G>A	NM_020921.3	NP_065972.3:p.(Glu1664Lys)	NC_000014.8:g.51214784C>T	VUS	1 lab	0ff673b06c
11:19204134 CSRP3 A>C	11	19204134	19204134	A	C	CSRP3	c.*83T>G	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19204134A>C	(Likely) benign	1 lab	0fffcae75b
9:139400096 NOTCH1 C>T	9	139400096	139400096	C	T	NOTCH1	c.4252G>A	NM_017617.5	NP_060087.3:p.(Ala1418Thr)	NC_000009.11:g.139400096C>T	VUS	1 lab	10007b33cb
10:97471736 ENTPD1 C>G	10	97471736	97471736	C	G	ENTPD1	c.23C>G	NM_001098175.1	NP_001091645.1:p.(Thr8Arg)	NC_000010.10:g.97471736C>G	(Likely) benign	1 lab	8061804632
19:33579018 GPATCH1 CTT>C	19	33579018	33579037	CTT	C	GPATCH1	c.74-4_74-3del	NM_018025.3	NP_060495.2:p.?	NC_000019.9:g.33579036_33579037del	(Likely) benign	1 lab	00c394f99e
4:110652414 CFI A>G	4	110652414	110652414	A	G	CFI	c.1781T>C	NM_001375278.1	NP_001362207.1:p.(Ile594Thr)	NC_000004.11:g.110652414A>G	(Likely) benign	1 lab	80721bcb5a
11:118344017 KMT2A G>C	11	118344017	118344017	G	C	KMT2A	c.2143G>C	NM_001197104.2	NP_001184033.1:p.(Val715Leu)	NC_000011.9:g.118344017G>C	VUS	1 lab	100438da18
17:41219790 BRCA1 C>T	17	41219790	41219790	C	T	BRCA1	c.4987-78G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219790C>T	(Likely) benign	1 lab	10062d6706
16:30099870 TBX6 T>TA	16	30099870	30099871	T	TA	TBX6				NC_000016.9:g.30099871dup	(Likely) pathogenic	1 lab	10080ca624
17:59816594 BRIP1 A>G	17	59816594	59816594	A	G	BRIP1	c.2379+3780T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59816594A>G	(Likely) benign	1 lab	1008af2982
7:149513111 SSPOP T>A	7	149513111	149513111	T	A	SSPOP	n.11109T>A	NR_163594.1		NC_000007.13:g.149513111T>A	VUS	1 lab	8137d87a25
10:89720650 PTEN G>A	10	89720650	89720650	G	A	PTEN	c.802-1G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720650G>A	(Likely) pathogenic	1 lab	100c73daff
3:168818709 MECOM C>T	3	168818709	168818709	C	T	MECOM	c.2813G>A	NM_004991.3	NP_004982.2:p.(Arg938Gln)	NC_000003.11:g.168818709C>T	(Likely) pathogenic	1 lab	10121fffee
9:113550116 MUSK T>C	9	113550116	113550116	T	C	MUSK	c.1925T>C	NM_005592.3	NP_005583.1:p.(Leu642Ser)	NC_000009.11:g.113550116T>C	VUS	1 lab	1013d8e04a
11:118015865 SCN4B C>T	11	118015865	118015865	C	T	SCN4B	c.141G>A	NM_174934.3	NP_777594.1:p.(Thr47=)	NC_000011.9:g.118015865C>T	(Likely) benign	1 lab	1019378d37
9:3262937 RFX3 G>A	9	3262937	3262937	G	A	RFX3	c.1603C>T	NM_001282116.2	NP_001269045.1:p.(Gln535Ter)	NC_000009.11:g.3262937G>A	(Likely) pathogenic	1 lab	101ad6f050
X:118971962 UPF3B G>A	X	118971962	118971962	G	A	UPF3B	c.1060C>T	NM_080632.3	NP_542199.1:p.(Arg354Ter)	NC_000023.10:g.118971962G>A	(Likely) pathogenic	1 lab	101bd53139
19:1219417 STK11 G>C	19	1219417	1219417	G	C	STK11	c.464+5G>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1219417G>C	VUS	1 lab	101c46b78c
17:41219706 BRCA1 C>T	17	41219706	41219706	C	T	BRCA1	c.4993G>A	NM_007294.4	NP_009225.1:p.(Val1665Met)	NC_000017.10:g.41219706C>T	VUS	1 lab	101d82ebbf
16:16259806 ABCC6 A>T	16	16259806	16259806	A	T	ABCC6	c.2996-16T>A	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16259806A>T	(Likely) benign	1 lab	10227f0de0
X:138643724 F9 C>T	X	138643724	138643724	C	T	F9	c.880C>T	NM_000133.3	NP_000124.1:p.(Arg294Ter)	NC_000023.10:g.138643724C>T	(Likely) pathogenic	1 lab	1023320ef2
2:47698295 MSH2 C>T	2	47698295	47698295	C	T	MSH2	c.1759+94C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698295C>T	(Likely) benign	1 lab	102526c3a7
2:215610542 BARD1 G>GT	2	215610542	215610543	G	GT	BARD1	c.1713dup	NM_000465.4	NP_000456.2:p.(Leu572ThrfsTer16)	NC_000002.11:g.215610543dup	(Likely) pathogenic	1 lab	1025d3c798
11:124971135 TMEM218 G>A	11	124971135	124971135	G	A	TMEM218	c.280C>T	NM_001258243.1	NP_001245172.1:p.(Arg94Ter)	NC_000011.9:g.124971135G>A	(Likely) pathogenic	1 lab	10269c9664
16:57996515 CNGB1 C>T	16	57996515	57996515	C	T	CNGB1	c.413-1G>A	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57996515C>T	(Likely) pathogenic	1 lab	1026f1a85f
19:6712585 C3 A>G	19	6712585	6712585	A	G	C3	c.1053T>C	NM_000064.2	NP_000055.2:p.(Ser351=)	NC_000019.9:g.6712585A>G	VUS	1 lab	1029856df9
12:49446040 KMT2D C>T	12	49446040	49446040	C	T	KMT2D	c.1426G>A	NM_003482.3	NP_003473.3:p.(Ala476Thr)	NC_000012.11:g.49446040C>T	(Likely) benign	1 lab	00c4b2fec1
1:143767357 PPIAL4G G>C	1	143767357	143767357	G	C	PPIAL4G	c.492C>G	NM_001123068.1	NP_001116540.1:p.(Phe164Leu)	NC_000001.10:g.143767357G>C	VUS	1 lab	81aea35307
3:58067477 FLNB C>T	3	58067477	58067477	C	T	FLNB	c.761C>T	NM_001457.4	NP_001448.2:p.(Pro254Leu)	NC_000003.11:g.58067477C>T	VUS	1 lab	10317e19cc
11:2170412 IGF2 C>T	11	2170412	2170412	C	T	IGF2	c.-305G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170412C>T	(Likely) benign	1 lab	822ac8c185
11:108158496 ATM A>T	11	108158496	108158496	A	T	ATM	c.4109+54A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158496A>T	(Likely) benign	1 lab	1041ad49f8
2:189915296 COL5A2 G>A	2	189915296	189915296	G	A	COL5A2	c.3038C>T	NM_000393.5	NP_000384.2:p.(Ala1013Val)	NC_000002.11:g.189915296G>A	(Likely) benign	1 lab	104402adad
8:145738796 RECQL4 G>A	8	145738796	145738796	G	A	RECQL4	c.2269C>T	NM_004260.3	NP_004251.3:p.(Gln757Ter)	NC_000008.10:g.145738796G>A	(Likely) pathogenic	1 lab	104404976b
5:112170781 APC C>CA	5	112170781	112170784	C	CA	APC	c.1880dup	NM_000038.6	NP_000029.2:p.(Asn627LysfsTer7)	NC_000005.9:g.112170784dup	(Likely) pathogenic	1 lab	10451371ff
1:1168646 B3GALT6 T>G	1	1168646	1168646	T	G	B3GALT6	c.988T>G	NM_080605.4	NP_542172.2:p.(Ter330GlyextTer73)	NC_000001.10:g.1168646T>G	(Likely) pathogenic	1 lab	10465eccce
3:128178298 MISSING G>A	3	128178298	128178298	G	A	MISSING				NC_000003.11:g.128178298G>A	(Likely) pathogenic	1 lab	104a884d73
5:112043263 APC C>T	5	112043263	112043263	C	T	APC	c.-152C>T	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043263C>T	(Likely) benign	1 lab	104b1f0337
7:149517749 SSPOP C>T	7	149517749	149517749	C	T	SSPOP	n.12284C>T	NR_163594.1		NC_000007.13:g.149517749C>T	VUS	1 lab	831bf46a7c
2:9633092 ADAM17 C>T	2	9633092	9633092	C	T	ADAM17	c.2017G>A	NM_003183.6	NP_003174.3:p.(Val673Ile)	NC_000002.11:g.9633092C>T	(Likely) benign	1 lab	00c82b0628
7:149482784 SSPOP C>T	7	149482784	149482784	C	T	SSPOP	n.3211C>T	NR_163594.1		NC_000007.13:g.149482784C>T	VUS	1 lab	8326cc1aa1
5:112174241 APC G>T	5	112174241	112174241	G	T	APC	c.2950G>T	NM_000038.5	NP_000029.2:p.(Glu984Ter)	NC_000005.9:g.112174241G>T	(Likely) pathogenic	1 lab	1053b061af
1:201368614 LAD1 G>A	1	201368614	201368614	G	A	LAD1	c.-180C>T	NM_005558.3	NP_005549.2:p.?	NC_000001.10:g.201368614G>A	VUS	1 lab	83447b9fea
15:48703380 FBN1 T>C	15	48703380	48703380	T	C	FBN1	c.8423A>G	NM_000138.4	NP_000129.3:p.(Gln2808Arg)	NC_000015.9:g.48703380T>C	VUS	1 lab	1056855a89
X:107863516 COL4A5 G>A	X	107863516	107863516	G	A	COL4A5	c.2537G>A	NM_033380.2	NP_203699.1:p.(Gly846Glu)	NC_000023.10:g.107863516G>A	(Likely) pathogenic	1 lab	1056a75d0e
7:75695613 MDH2 A>G	7	75695613	75695613	A	G	MDH2	c.902A>G	NM_005918.4	NP_005909.2:p.(Lys301Arg)	NC_000007.13:g.75695613A>G	(Likely) benign	1 lab	1056f59a00
14:23901815 MYH7 T>C	14	23901815	23901815	T	C	MYH7	c.502+33A>G	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23901815T>C	VUS	1 lab	105766c053
5:112163701 APC C>T	5	112163701	112163701	C	T	APC	c.1624C>T	NM_000038.6	NP_000029.2:p.(Gln542Ter)	NC_000005.9:g.112163701C>T	(Likely) pathogenic	1 lab	1057f99248
3:10417161 ATP2B2 C>A	3	10417161	10417161	C	A	ATP2B2	c.1369G>T	NM_001001331.3	NP_001001331.1:p.(Glu457Ter)	NC_000003.11:g.10417161C>A	(Likely) pathogenic	1 lab	105b095d16
16:28631383 SULT1A1 C>G	16	28631383	28631383	C	G	SULT1A1	c.-339+1G>C	NM_001394421.1	NP_001381350.1:p.?	NC_000016.9:g.28631383C>G	(Likely) benign	1 lab	836fd1c4b0
2:179597999 TTN T>C	2	179597999	179597999	T	C	TTN	c.16021A>G	NM_001267550.2	NP_001254479.2:p.(Ser5341Gly)	NC_000002.11:g.179597999T>C	(Likely) benign	1 lab	105d810415
11:121038909 TECTA T>G	11	121038909	121038909	T	G	TECTA	c.5733T>G	NM_005422.2	NP_005413.2:p.(Val1911=)	NC_000011.9:g.121038909T>G	(Likely) benign	1 lab	10609b8ff1
4:110667561 CFI T>G	4	110667561	110667561	T	G	CFI	c.1246A>C	NM_000204.5	NP_000195.3:p.(Ile416Leu)	NC_000004.11:g.110667561T>G	(Likely) pathogenic	1 lab	1060afc36b
2:26712561 OTOF C>T	2	26712561	26712561	C	T	OTOF	c.945G>A	NM_194248.2	NP_919224.1:p.(Lys315=)	NC_000002.11:g.26712561C>T	(Likely) benign	1 lab	10620a180e
3:38748778 SCN10A G>A	3	38748778	38748778	G	A	SCN10A	c.4378C>T	NM_006514.3	NP_006505.3:p.(Arg1460Trp)	NC_000003.11:g.38748778G>A	VUS	1 lab	106e503d52
12:52200792 SCN8A G>A	12	52200792	52200792	G	A	SCN8A				NC_000012.11:g.52200792G>A	VUS	1 lab	61653ca353
3:121976218 CASR T>G	3	121976218	121976218	T	G	CASR	c.476T>G	NM_000388.3	NP_000379.2:p.(Leu159Arg)	NC_000003.11:g.121976218T>G	(Likely) pathogenic	1 lab	1071bb4b72
17:3561426 CTNS C>T	17	3561426	3561426	C	T	CTNS	c.809C>T	NM_001031681.2	NP_001026851.2:p.(Ser270Phe)	NC_000017.10:g.3561426C>T	(Likely) pathogenic	1 lab	1074d8c2e6
6:45399754 RUNX2 G>A	6	45399754	45399754	G	A	RUNX2	c.578G>A	NM_001024630.4	NP_001019801.3:p.(Arg193Gln)	NC_000006.11:g.45399754G>A	(Likely) pathogenic	1 lab	1075bb913b
22:17979750 CECR2 G>GA	22	17979750	17979751	G	GA	CECR2	c.144_145insA	NM_001290046.1	NP_001276975.1:p.(Glu49ArgfsTer7)	NC_000022.10:g.17979750_17979751insA	VUS	1 lab	83f8c12973
22:42125754 MEI1 C>T	22	42125754	42125754	C	T	MEI1	c.950C>T	NM_152513.4	NP_689726.3:p.(Ala317Val)	NC_000022.10:g.42125754C>T	VUS	1 lab	10789dc9a5
X:102978781 GLRA4 T>C	X	102978781	102978781	T	C	GLRA4	n.869+3A>G	NR_164162.1		NC_000023.10:g.102978781T>C	(Likely) benign	1 lab	845bff355f
1:2129565 FAAP20 G>T	1	2129565	2129565	G	T	FAAP20	c.66C>A	NM_001146310.1	NP_001139782.1:p.(His22Gln)	NC_000001.10:g.2129565G>T	VUS	1 lab	8a425660b5
2:166019184 SCN3A G>C	2	166019184	166019184	G	C	SCN3A	c.849C>G	NM_006922.4	NP_008853.3:p.(Ser283Arg)	NC_000002.11:g.166019184G>C	(Likely) benign	1 lab	107c00c728
18:48584469 SMAD4 A>G	18	48584469	48584469	A	G	SMAD4	c.668-26A>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584469A>G	(Likely) benign	1 lab	107c7d28c0
14:102483128 DYNC1H1 C>T	14	102483128	102483128	C	T	DYNC1H1	c.7640C>T	NM_001376.4	NP_001367.2:p.(Pro2547Leu)	NC_000014.8:g.102483128C>T	VUS	1 lab	107d17ceb6
1:228467158 OBSCN G>A	1	228467158	228467158	G	A	OBSCN	c.8683+13G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228467158G>A	(Likely) benign	1 lab	00d3ace4ec
10:26500835 MYO3A C>G	10	26500835	26500835	C	G	MYO3A	c.4794C>G	NM_017433.4	NP_059129.3:p.(Asp1598Glu)	NC_000010.10:g.26500835C>G	VUS	1 lab	1085959d37
11:118211325 CD3D A>G	11	118211325	118211325	A	G	CD3D	c.56-17T>C	NM_000732.4	NP_000723.1:p.?	NC_000011.9:g.118211325A>G	(Likely) benign	1 lab	00d530d017
20:44650519 SLC12A5 G>T	20	44650519	44650519	G	T	SLC12A5	c.115G>T	NM_001134771.1	NP_001128243.1:p.(Val39Phe)	NC_000020.10:g.44650519G>T	(Likely) benign	1 lab	85b1297b69
17:27809247 MISSING A>G	17	27809247	27809247	A	G	MISSING				NC_000017.10:g.27809247A>G	(Likely) pathogenic	1 lab	c802add7a6
15:73622061 HCN4 G>A	15	73622061	73622061	G	A	HCN4	c.1443C>T	NM_005477.2	NP_005468.1:p.(Tyr481=)	NC_000015.9:g.73622061G>A	(Likely) benign	1 lab	108ab202a0
15:68504183 CLN6 G>A	15	68504183	68504183	G	A	CLN6	c.316C>T	NM_017882.2	NP_060352.1:p.(Arg106Cys)	NC_000015.9:g.68504183G>A	VUS	1 lab	108cdf4c7b
11:2161364 IGF2 C>A	11	2161364	2161364	C	A	IGF2	c.-6-4605G>T	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2161364C>A	VUS	1 lab	860f226f06
X:54071320 PHF8 T>C	X	54071320	54071320	T	C	PHF8	c.4A>G	NM_001184896.1	NP_001171825.1:p.(Asn2Asp)	NC_000023.10:g.54071320T>C	VUS	1 lab	865b45f14a
4:6303419 WFS1 G>C	4	6303419	6303419	G	C	WFS1	c.1897G>C	NM_006005.3	NP_005996.2:p.(Val633Leu)	NC_000004.11:g.6303419G>C	(Likely) benign	1 lab	1093400edf
3:11070534 SLC6A1 G>T	3	11070534	11070534	G	T	SLC6A1	c.1191+1G>T	NM_003042.3	NP_003033.3:p.?	NC_000003.11:g.11070534G>T	(Likely) pathogenic	1 lab	109390fa9e
21:36259294 RUNX1 GCAGCGC>G	21	36259294	36259301	GCAGCGC	G	RUNX1	c.191_196del	NM_001754.4	NP_001745.2:p.(Gly64_Ala65del)	NC_000021.8:g.36259296_36259301del	VUS	1 lab	109926a794
5:112174973 APC C>T	5	112174973	112174973	C	T	APC	c.3682C>T	NM_000038.6	NP_000029.2:p.(Gln1228Ter)	NC_000005.9:g.112174973C>T	(Likely) pathogenic	1 lab	109f7154b8
7:21784216 DNAH11 A>G	7	21784216	21784216	A	G	DNAH11	c.8315A>G	NM_001277115.2	NP_001264044.1:p.(Glu2772Gly)	NC_000007.13:g.21784216A>G	VUS	1 lab	10aa118b9d
10:28899747 WAC C>T	10	28899747	28899747	C	T	WAC				NC_000010.10:g.28899747C>T	(Likely) pathogenic	1 lab	10b013a8ec
12:33031691 PKP2 C>T	12	33031691	33031691	C	T	PKP2	c.336+163G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.33031691C>T	(Likely) benign	1 lab	10b07998e5
19:16593517 CALR3 G>A	19	16593517	16593517	G	A	CALR3	c.758C>T	NM_145046.4	NP_659483.2:p.(Ala253Val)	NC_000019.9:g.16593517G>A	(Likely) benign	1 lab	10b12f1f23
11:67223662 CABP4 C>T	11	67223662	67223662	C	T	CABP4	c.370C>T	NM_145200.5	NP_660201.1:p.(Arg124Cys)	NC_000011.9:g.67223662C>T	(Likely) pathogenic	1 lab	10b156ce66
19:44611602 ZNF224 G>A	19	44611602	44611602	G	A	ZNF224	c.1289G>A	NM_013398.2	NP_037530.2:p.(Cys430Tyr)	NC_000019.9:g.44611602G>A	VUS	1 lab	10d40be419
2:167328841 SCN7A G>A	2	167328841	167328841	G	A	SCN7A	c.558C>T	NM_002976.4	NP_002967.2:p.(Ser186=)	NC_000002.11:g.167328841G>A	(Likely) benign	1 lab	10b1ad48d3
2:219757884 WNT10A A>G	2	219757884	219757884	A	G	WNT10A	c.1145A>G	NM_025216.2	NP_079492.2:p.(Asn382Ser)	NC_000002.11:g.219757884A>G	VUS	1 lab	10b2ecac37
X:53616505 HUWE1 A>G	X	53616505	53616505	A	G	HUWE1	c.4461+2T>C	NM_031407.5	NP_113584.3:p.?	NC_000023.10:g.53616505A>G	VUS	1 lab	56ca584cbf
2:47643504 MSH2 G>T	2	47643504	47643504	G	T	MSH2	c.1012G>T	NM_000251.2	NP_000242.1:p.(Gly338Ter)	NC_000002.11:g.47643504G>T	(Likely) pathogenic	1 lab	10b822572e
16:68853280 CDH1 C>T	16	68853280	68853280	C	T	CDH1	c.1663C>T	NM_004360.3	NP_004351.1:p.(His555Tyr)	NC_000016.9:g.68853280C>T	(Likely) benign	1 lab	10b8f6a58b
X:100662772 GLA A>G	X	100662772	100662772	A	G	GLA	c.120T>C	NM_000169.2	NP_000160.1:p.(Pro40=)	NC_000023.10:g.100662772A>G	(Likely) benign	1 lab	10b9123b16
7:128478793 FLNC C>T	7	128478793	128478793	C	T	FLNC	c.1347C>T	NM_001458.4	NP_001449.3:p.(Thr449=)	NC_000007.13:g.128478793C>T	(Likely) benign	1 lab	10beac547d
5:1057615 SLC12A7 A>G	5	1057615	1057615	A	G	SLC12A7	c.2997T>C	NM_006598.2	NP_006589.2:p.(Ser999=)	NC_000005.9:g.1057615A>G	(Likely) benign	1 lab	10c301728a
5:7897036 MTRR G>A	5	7897036	7897036	G	A	MTRR	c.1817G>A	NM_024010.2	NP_076915.2:p.(Gly606Asp)	NC_000005.9:g.7897036G>A	VUS	1 lab	10c430080b
2:159537215 PKP4 C>CT	2	159537215	159537218	C	CT	PKP4	c.*29dup	NM_003628.4	NP_003619.2:p.?	NC_000002.11:g.159537218dup	(Likely) benign	1 lab	10c68e1047
17:7906815 GUCY2D G>A	17	7906815	7906815	G	A	GUCY2D	c.450G>A	NM_000180.3	NP_000171.1:p.(Trp150Ter)	NC_000017.10:g.7906815G>A	(Likely) pathogenic	1 lab	10c95f93a5
13:32931696 BRCA2 A>G	13	32931696	32931696	A	G	BRCA2	c.7618-183A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32931696A>G	(Likely) benign	1 lab	10ca81d6e2
20:57428977 GNAS C>T	20	57428977	57428977	C	T	GNAS	c.470C>T	NM_001077490.1	NP_001070958.1:p.(Pro157Leu)	NC_000020.10:g.57428977C>T	(Likely) benign	1 lab	874b7dafae
5:139493826 PURA C>T	5	139493826	139493826	C	T	PURA	c.60C>T	NM_005859.4	NP_005850.1:p.(Ser20=)	NC_000005.9:g.139493826C>T	(Likely) benign	1 lab	10ccbd250a
12:111757932 CUX2 C>T	12	111757932	111757932	C	T	CUX2				NC_000012.11:g.111757932C>T	(Likely) pathogenic	1 lab	10d3783dab
X:70352797 MED12 G>C	X	70352797	70352797	G	C	MED12	c.4518G>C	NM_005120.3	NP_005111.2:p.(Gln1506His)	NC_000023.10:g.70352797G>C	VUS	1 lab	10d7f47b8d
12:133158857 FBRSL1 G>A	12	133158857	133158857	G	A	FBRSL1	c.2330+5G>A	NM_001142641.1	NP_001136113.1:p.?	NC_000012.11:g.133158857G>A	VUS	1 lab	10d81a2d50
6:7580659 DSP G>A	6	7580659	7580659	G	A	DSP	c.4236G>A	NM_004415.4	NP_004406.2:p.(Leu1412=)	NC_000006.11:g.7580659G>A	(Likely) benign	1 lab	10da76aa63
22:38369817 SOX10 C>G	22	38369817	38369817	C	G	SOX10	c.1086G>C	NM_006941.3	NP_008872.1:p.(Gly362=)	NC_000022.10:g.38369817C>G	(Likely) benign	1 lab	10daca7427
5:1081767 SLC12A7 C>T	5	1081767	1081767	C	T	SLC12A7	c.1222G>A	NM_006598.2	NP_006589.2:p.(Ala408Thr)	NC_000005.9:g.1081767C>T	(Likely) benign	1 lab	10ddd8f9f0
1:196646704 CFH T>C	1	196646704	196646704	T	C	CFH	c.526T>C	NM_000186.3	NP_000177.2:p.(Phe176Leu)	NC_000001.10:g.196646704T>C	VUS	1 lab	10e1c83da9
X:10442789 MID1 C>G	X	10442789	10442789	C	G	MID1	c.1015G>C	NM_000381.4	NP_000372.1:p.(Val339Leu)	NC_000023.10:g.10442789C>G	VUS	1 lab	10e786a27a
15:63356181 TPM1 G>A	15	63356181	63356181	G	A	TPM1	c.773-82G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63356181G>A	(Likely) benign	1 lab	10e8cfcd78
6:152690632 SYNE1 T>A	6	152690632	152690632	T	A	SYNE1				NC_000006.11:g.152690632T>A	(Likely) pathogenic	1 lab	10eba3a71c
19:41105463 LTBP4 G>A	19	41105463	41105463	G	A	LTBP4	c.341+1G>A	NM_001042544.1	NP_001036009.1:p.?	NC_000019.9:g.41105463G>A	VUS	1 lab	87d8f80fef
5:14297323 TRIO G>A	5	14297323	14297323	G	A	TRIO	c.1319G>A	NM_007118.2	NP_009049.2:p.(Arg440Gln)	NC_000005.9:g.14297323G>A	VUS	1 lab	10ede9fa78
19:45207494 CEACAM16 G>A	19	45207494	45207494	G	A	CEACAM16	c.589G>A	NM_001039213.4	NP_001034302.2:p.(Gly197Ser)	NC_000019.9:g.45207494G>A	VUS	1 lab	10f0e4f09f
16:79632905 MAF G>T	16	79632905	79632905	G	T	MAF	c.895C>A	NM_005360.5	NP_005351.2:p.(Arg299Ser)	NC_000016.9:g.79632905G>T	(Likely) pathogenic	1 lab	10f1922fd0
6:152443389 SYNE1 C>T	6	152443389	152443389	C	T	SYNE1	c.*182G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152443389C>T	(Likely) benign	1 lab	10f23e32ae
12:49579481 TUBA1A G>T	12	49579481	49579481	G	T	TUBA1A				NC_000012.11:g.49579481G>T	(Likely) pathogenic	1 lab	10f3fcb71b
10:50824619 CHAT G>A	10	50824619	50824619	G	A	CHAT	c.358G>A	NM_020549.4	NP_065574.3:p.(Ala120Thr)	NC_000010.10:g.50824619G>A	(Likely) benign	1 lab	10f43327dd
5:89924378 ADGRV1 G>A	5	89924378	89924378	G	A	ADGRV1	c.1239-1G>A	NM_032119.3	NP_115495.3:p.?	NC_000005.9:g.89924378G>A	(Likely) pathogenic	1 lab	10f9334210
22:22976867 POM121L1P T>C	22	22976867	22976867	T	C	POM121L1P	n.2565-9A>G	NR_024591.1		NC_000022.10:g.22976867T>C	VUS	1 lab	8883d3eb09
9:139327473 INPP5E C>T	9	139327473	139327473	C	T	INPP5E	c.1214G>A	NM_019892.4	NP_063945.2:p.(Gly405Glu)	NC_000009.11:g.139327473C>T	VUS	1 lab	10fc6e192e
1:237777758 RYR2 A>G	1	237777758	237777758	A	G	RYR2	c.5330A>G	NM_001035.2	NP_001026.2:p.(Gln1777Arg)	NC_000001.10:g.237777758A>G	VUS	1 lab	10fcb73759
4:87728733 PTPN13 C>G	4	87728733	87728733	C	G	PTPN13	c.6781C>G	NM_080685.2	NP_542416.1:p.(Leu2261Val)	NC_000004.11:g.87728733C>G	VUS	1 lab	10ff125717
X:153587898 FLNA G>A	X	153587898	153587898	G	A	FLNA	c.4096C>T	NM_001110556.2	NP_001104026.1:p.(Gln1366Ter)	NC_000023.10:g.153587898G>A	(Likely) pathogenic	1 lab	1101776806
1:156054127 LMNA G>C	1	156054127	156054127	G	C	LMNA	c.-319+1152G>C	NM_001282625.1	NP_001269554.1:p.?	NC_000001.10:g.156054127G>C	(Likely) benign	1 lab	88c4ea5ef3
11:108143247 ATM A>T	11	108143247	108143247	A	T	ATM	c.3078-12A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143247A>T	(Likely) benign	1 lab	1106f291da
11:108172460 ATM A>G	11	108172460	108172460	A	G	ATM	c.5263A>G	NM_000051.3	NP_000042.3:p.(Met1755Val)	NC_000011.9:g.108172460A>G	VUS	1 lab	111042768e
16:4254523 SRL C>T	16	4254523	4254523	C	T	SRL	c.163+11G>A	NM_001098814.1	NP_001092284.1:p.?	NC_000016.9:g.4254523C>T	(Likely) benign	1 lab	1113a0875c
16:56370671 GNAO1 G>C	16	56370671	56370671	G	C	GNAO1	c.622G>C	NM_020988.2	NP_066268.1:p.(Glu208Gln)	NC_000016.9:g.56370671G>C	(Likely) pathogenic	1 lab	11151acb5b
1:115258711 NRAS A>T	1	115258711	115258711	A	T	NRAS				NC_000001.10:g.115258711A>T	(Likely) pathogenic	1 lab	632661efa4
10:27692214 PTCHD3 G>A	10	27692214	27692214	G	A	PTCHD3	c.1284C>T	NM_001034842.3	NP_001030014.2:p.(Ser428=)	NC_000010.10:g.27692214G>A	(Likely) benign	1 lab	8960b98411
17:59560463 TBX4 C>T	17	59560463	59560463	C	T	TBX4	c.1224C>T	NM_018488.2	NP_060958.2:p.(Asp408=)	NC_000017.10:g.59560463C>T	(Likely) benign	1 lab	1117536e70
X:38182647 RPGR C>T	X	38182647	38182647	C	T	RPGR	c.154+5G>A	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38182647C>T	VUS	1 lab	1117f36fff
2:1926945 MYT1L T>C	2	1926945	1926945	T	C	MYT1L	c.596A>G	NM_001329844.1	NP_001316773.1:p.(Glu199Gly)	NC_000002.11:g.1926945T>C	VUS	1 lab	1119bc693d
8:87588248 CNGB3 T>C	8	87588248	87588248	T	C	CNGB3	c.2214A>G	NM_019098.4	NP_061971.3:p.(Glu738=)	NC_000008.10:g.87588248T>C	(Likely) benign	1 lab	111acefc3e
11:68154132 LRP5 C>T	11	68154132	68154132	C	T	LRP5	c.1364C>T	NM_002335.4	NP_002326.2:p.(Ser455Leu)	NC_000011.9:g.68154132C>T	VUS	1 lab	111b97eba5
4:149356255 NR3C2 C>T	4	149356255	149356255	C	T	NR3C2	c.1757+1G>A	NM_000901.4	NP_000892.2:p.?	NC_000004.11:g.149356255C>T	(Likely) pathogenic	1 lab	111c7961a1
11:65667861 FOSL1 C>A	11	65667861	65667861	C	A	FOSL1	c.-51G>T	NM_001300844.1	NP_001287773.1:p.?	NC_000011.9:g.65667861C>A	VUS	1 lab	897009d795
2:165997294 SCN3A C>T	2	165997294	165997294	C	T	SCN3A	c.1886G>A	NM_006922.4	NP_008853.3:p.(Ser629Asn)	NC_000002.11:g.165997294C>T	VUS	1 lab	1123cab36a
16:89623408 SPG7 C>T	16	89623408	89623408	C	T	SPG7	c.2295C>T	NM_003119.2	NP_003110.1:p.(Asp765=)	NC_000016.9:g.89623408C>T	(Likely) benign	1 lab	112611d342
11:89018113 TYR C>A	11	89018113	89018113	C	A	TYR	c.1357C>A	NM_000372.5	NP_000363.1:p.(Gln453Lys)	NC_000011.9:g.89018113C>A	VUS	1 lab	112825baee
X:152959389 SLC6A8 C>T	X	152959389	152959389	C	T	SLC6A8	c.1171C>T	NM_005629.4	NP_005620.1:p.(Arg391Trp)	NC_000023.10:g.152959389C>T	(Likely) pathogenic	1 lab	11283848f0
X:32663121 DMD T>A	X	32663121	32663121	T	A	DMD	c.1109A>T	NM_004006.2	NP_003997.1:p.(Asn370Ile)	NC_000023.10:g.32663121T>A	(Likely) benign	1 lab	1128675bb7
17:4804155 CHRNE T>G	17	4804155	4804155	T	G	CHRNE	c.850A>C	NM_000080.3	NP_000071.1:p.(Thr284Pro)	NC_000017.10:g.4804155T>G	(Likely) pathogenic	1 lab	112d37ed1f
17:45009610 GOSR2 G>T	17	45009610	45009610	G	T	GOSR2	c.336+45G>T	NM_004287.4	NP_004278.2:p.?	NC_000017.10:g.45009610G>T	(Likely) benign	1 lab	00e304419a
2:179594237 TTN C>T	2	179594237	179594237	C	T	TTN	c.18646G>A	NM_001267550.1	NP_001254479.1:p.(Val6216Met)	NC_000002.11:g.179594237C>T	(Likely) benign	1 lab	11347950ac
17:7788338 CHD3 C>T	17	7788338	7788338	C	T	CHD3	c.214C>T	NM_001005271.2	NP_001005271.2:p.(Leu72Phe)	NC_000017.10:g.7788338C>T	(Likely) benign	1 lab	897d1b4069
2:228582746 SLC19A3 G>A	2	228582746	228582746	G	A	SLC19A3				NC_000002.11:g.228582746G>A	(Likely) benign	1 lab	113750d718
4:17528602 CLRN2 A>G	4	17528602	17528602	A	G	CLRN2	c.596A>G	NM_001079827.2	NP_001073296.1:p.(His199Arg)	NC_000004.11:g.17528602A>G	VUS	1 lab	113ce408e8
10:89624264 PTEN A>T	10	89624264	89624264	A	T	PTEN	c.38A>T	NM_000314.4	NP_000305.3:p.(Lys13Ile)	NC_000010.10:g.89624264A>T	VUS	1 lab	113d2ca35c
20:61167787 MIR1-1HG C>T	20	61167787	61167787	C	T	MIR1-1HG	c.257C>T	NM_001302812.1	NP_001289741.1:p.(Thr86Met)	NC_000020.10:g.61167787C>T	(Likely) benign	1 lab	8a0abc09b2
3:25775356 NGLY1 A>C	3	25775356	25775356	A	C	NGLY1	c.1260+7T>G	NM_018297.3	NP_060767.2:p.?	NC_000003.11:g.25775356A>C	(Likely) benign	1 lab	113e5dc1f2
12:57605780 LRP1 G>A	12	57605780	57605780	G	A	LRP1	c.13329G>A	NM_002332.3	NP_002323.2:p.(Trp4443Ter)	NC_000012.11:g.57605780G>A	(Likely) pathogenic	1 lab	113f3bd75b
12:9002809 A2ML1 G>A	12	9002809	9002809	G	A	A2ML1	c.2173G>A	NM_144670.4	NP_653271.2:p.(Glu725Lys)	NC_000012.11:g.9002809G>A	(Likely) benign	1 lab	11400e1812
12:116445243 MED13L C>T	12	116445243	116445243	C	T	MED13L	c.2211G>A	NM_015335.4	NP_056150.1:p.(Thr737=)	NC_000012.11:g.116445243C>T	(Likely) benign	1 lab	1142d2afd9
2:121744084 GLI2 C>A	2	121744084	121744084	C	A	GLI2	c.2187C>A	NM_005270.4	NP_005261.2:p.(Phe729Leu)	NC_000002.11:g.121744084C>A	(Likely) benign	1 lab	1147fa5c26
4:149181259 NR3C2 G>A	4	149181259	149181259	G	A	NR3C2	c.1768C>T	NM_000901.4	NP_000892.2:p.(Arg590Ter)	NC_000004.11:g.149181259G>A	(Likely) pathogenic	1 lab	114f4b8c54
1:43395588 SLC2A1 C>T	1	43395588	43395588	C	T	SLC2A1	c.635G>A	NM_006516.2	NP_006507.2:p.(Arg212His)	NC_000001.10:g.43395588C>T	(Likely) pathogenic	1 lab	115029c0b6
17:4802317 CHRNE T>C	17	4802317	4802317	T	C	CHRNE	c.1305A>G	NM_000080.3	NP_000071.1:p.(Arg435=)	NC_000017.10:g.4802317T>C	(Likely) benign	1 lab	11550d52e0
19:39019322 RYR1 T>C	19	39019322	39019322	T	C	RYR1	c.11021T>C	NM_000540.2	NP_000531.2:p.(Ile3674Thr)	NC_000019.9:g.39019322T>C	VUS	1 lab	11583d7fd7
1:6269224 RNF207 G>A	1	6269224	6269224	G	A	RNF207	c.519G>A	NM_207396.3	NP_997279.2:p.(Leu173=)	NC_000001.10:g.6269224G>A	(Likely) benign	1 lab	00f1e1fe7f
19:39196736 ACTN4 G>A	19	39196736	39196736	G	A	ACTN4	c.537G>A	NM_004924.4	NP_004915.2:p.(Pro179=)	NC_000019.9:g.39196736G>A	(Likely) benign	1 lab	115ae626bf
19:50367511 PNKP C>T	19	50367511	50367511	C	T	PNKP	c.579-18G>A	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50367511C>T	VUS	1 lab	00f2689bea
6:33136339 COL11A2 C>T	6	33136339	33136339	C	T	COL11A2	c.3917G>A	NM_080680.2	NP_542411.2:p.(Gly1306Asp)	NC_000006.11:g.33136339C>T	(Likely) pathogenic	1 lab	115ca468ad
16:89805539 FANCA G>T	16	89805539	89805539	G	T	FANCA	c.4167+2C>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89805539G>T	VUS	1 lab	119ffdeaa8
1:91406556 ZNF644 G>C	1	91406556	91406556	G	C	ZNF644	c.355C>G	NM_201269.2	NP_958357.1:p.(Pro119Ala)	NC_000001.10:g.91406556G>C	VUS	1 lab	115f82db49
15:66995940 SMAD6 G>A	15	66995940	66995940	G	A	SMAD6	c.344G>A	NM_005585.5	NP_005576.3:p.(Trp115Ter)	NC_000015.9:g.66995940G>A	(Likely) pathogenic	1 lab	1160619a1b
3:124456970 UMPS A>G	3	124456970	124456970	A	G	UMPS	c.866A>G	NM_000373.4	NP_000364.1:p.(Asp289Gly)	NC_000003.11:g.124456970A>G	(Likely) pathogenic	1 lab	116232a3f5
18:24173701 KCTD1 G>C	18	24173701	24173701	G	C	KCTD1	c.9+63623C>G	NM_001258222.1	NP_001245151.1:p.?	NC_000018.9:g.24173701G>C	VUS	1 lab	8a8b978a8e
6:49399515 MMUT G>A	6	49399515	49399515	G	A	MMUT	c.2179C>T	NM_000255.4	NP_000246.2:p.(Arg727Ter)	NC_000006.11:g.49399515G>A	(Likely) pathogenic	1 lab	1163e76fc3
2:179592425 TTN G>A	2	179592425	179592425	G	A	TTN	c.19880C>T	NM_001267550.2	NP_001254479.2:p.(Ser6627Leu)	NC_000002.11:g.179592425G>A	(Likely) benign	1 lab	1165f376ec
10:88469801 LDB3 C>A	10	88469801	88469801	C	A	LDB3	c.1225C>A	NM_007078.2	NP_009009.1:p.(Gln409Lys)	NC_000010.10:g.88469801C>A	(Likely) benign	1 lab	11688e5cee
X:16870937 MISSING C>T	X	16870937	16870937	C	T	MISSING				NC_000023.10:g.16870937C>T	VUS	1 lab	116b8e2c65
10:112559579 RBM20 A>G	10	112559579	112559579	A	G	RBM20	c.1703A>G	NM_001134363.2	NP_001127835.2:p.(Gln568Arg)	NC_000010.10:g.112559579A>G	VUS	1 lab	116df3c785
1:94495177 ABCA4 A>G	1	94495177	94495177	A	G	ABCA4	c.4363T>C	NM_000350.2	NP_000341.2:p.(Cys1455Arg)	NC_000001.10:g.94495177A>G	(Likely) pathogenic	1 lab	117080567d
15:23811476 MKRN3 G>T	15	23811476	23811476	G	T	MKRN3	c.547G>T	NM_005664.3	NP_005655.1:p.(Glu183Ter)	NC_000015.9:g.23811476G>T	(Likely) pathogenic	1 lab	1176d70aee
13:113765166 F7 T>G	13	113765166	113765166	T	G	F7	c.291+2T>G	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113765166T>G	(Likely) pathogenic	1 lab	1177ad89dc
20:42200704 SGK2 T>C	20	42200704	42200704	T	C	SGK2	c.704T>C	NM_016276.3	NP_057360.2:p.(Leu235Pro)	NC_000020.10:g.42200704T>C	VUS	1 lab	117882b46c
13:35619476 NBEA A>T	13	35619476	35619476	A	T	NBEA				NC_000013.10:g.35619476A>T	(Likely) benign	1 lab	117ef73549
16:74808445 FA2H G>C	16	74808445	74808445	G	C	FA2H	c.209C>G	NM_024306.4	NP_077282.3:p.(Ser70Trp)	NC_000016.9:g.74808445G>C	VUS	1 lab	118649f9e2
5:112043520 APC C>T	5	112043520	112043520	C	T	APC	c.106C>T	NM_001127511.2	NP_001120983.2:p.(Gln36Ter)	NC_000005.9:g.112043520C>T	VUS	1 lab	8a8caa5a18
17:78164621 CARD14 A>G	17	78164621	78164621	A	G	CARD14	c.1012A>G	NM_024110.4	NP_077015.2:p.(Met338Val)	NC_000017.10:g.78164621A>G	(Likely) benign	1 lab	00f4501cdf
20:42744850 JPH2 C>CAAGCT	20	42744850	42744851	C	CAAGCT	JPH2	c.1464_1465insAGCTT	NM_020433.4	NP_065166.2:p.(Gly489SerfsTer21)	NC_000020.10:g.42744850_42744851insAAGCT	VUS	1 lab	11891adba2
12:2716219 CACNA1C C>A	12	2716219	2716219	C	A	CACNA1C	c.3339C>A	NM_199460.3	NP_955630.3:p.(Asn1113Lys)	NC_000012.11:g.2716219C>A	VUS	1 lab	118b3a54af
5:92929393 NR2F1 C>T	5	92929393	92929393	C	T	NR2F1	c.1117C>T	NM_005654.5	NP_005645.1:p.(Arg373Ter)	NC_000005.9:g.92929393C>T	(Likely) pathogenic	1 lab	118b3e22de
19:49468847 FTL C>G	19	49468847	49468847	C	G	FTL	c.83C>G	NM_000146.3	NP_000137.2:p.(Ser28Cys)	NC_000019.9:g.49468847C>G	VUS	1 lab	118bcbed36
X:152991143 ABCD1 C>A	X	152991143	152991143	C	A	ABCD1	c.422C>A	NM_000033.3	NP_000024.2:p.(Ala141Asp)	NC_000023.10:g.152991143C>A	VUS	1 lab	118d0c0507
7:19156520 TWIST1 T>C	7	19156520	19156520	T	C	TWIST1	c.425A>G	NM_000474.3	NP_000465.1:p.(Lys142Arg)	NC_000007.13:g.19156520T>C	(Likely) pathogenic	1 lab	119197f583
19:35530771 SCN1B G>T	19	35530771	35530771	G	T	SCN1B	c.*76G>T	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35530771G>T	(Likely) benign	1 lab	11919ff9e1
19:47259986 FKRP A>G	19	47259986	47259986	A	G	FKRP	c.1279A>G	NM_024301.4	NP_077277.1:p.(Met427Val)	NC_000019.9:g.47259986A>G	VUS	1 lab	1191e7f5f9
8:54792077 RGS20 CG>C	8	54792077	54792083	CG	C	RGS20	c.165+27459del	NM_001286673.1	NP_001273602.1:p.?	NC_000008.10:g.54792083del	VUS	1 lab	8ad203110c
6:123581789 TRDN G>A	6	123581789	123581789	G	A	TRDN	c.1805-6C>T	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123581789G>A	(Likely) benign	1 lab	1197887185
X:152939414 PNCK G>A	X	152939414	152939414	G	A	PNCK	c.217C>T	NM_001039582.3	NP_001034671.3:p.(Pro73Ser)	NC_000023.10:g.152939414G>A	VUS	1 lab	8b410e179f
X:32328400 DMD T>C	X	32328400	32328400	T	C	DMD	c.5923-7A>G	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32328400T>C	(Likely) benign	1 lab	119bf5ea4b
16:81248706 PKD1L2 C>G	16	81248706	81248706	C	G	PKD1L2	c.557G>C	NM_001076780.1	NP_001070248.1:p.(Arg186Pro)	NC_000016.9:g.81248706C>G	VUS	1 lab	8bc386884c
7:114174759 FOXP2 C>T	7	114174759	114174759	C	T	FOXP2	c.256C>T	NM_148898.3	NP_683696.2:p.(Gln86Ter)	NC_000007.13:g.114174759C>T	(Likely) pathogenic	1 lab	119e6f6072
16:67469997 HSD11B2 CT>C	16	67469997	67469998	CT	C	HSD11B2	c.617del	NM_000196.4	NP_000187.3:p.(Leu206ArgfsTer10)	NC_000016.9:g.67469998del	(Likely) pathogenic	1 lab	11a37297c0
12:111357120 MYL2 G>A	12	111357120	111357120	G	A	MYL2	c.4-123C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111357120G>A	(Likely) benign	1 lab	11a59a7e55
2:31805706 SRD5A2 G>C	2	31805706	31805706	G	C	SRD5A2	c.265C>G	NM_000348.3	NP_000339.2:p.(Leu89Val)	NC_000002.11:g.31805706G>C	(Likely) benign	1 lab	11a5bb5b78
3:165548656 BCHE A>T	3	165548656	165548656	A	T	BCHE	c.166T>A	NM_000055.3	NP_000046.1:p.(Phe56Ile)	NC_000003.11:g.165548656A>T	VUS	1 lab	11a8170df3
14:23863152 MYH6 A>G	14	23863152	23863152	A	G	MYH6	c.2686-35T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23863152A>G	(Likely) benign	1 lab	11ab38d99c
4:628580 PDE6B A>T	4	628580	628580	A	T	PDE6B	c.583A>T	NM_000283.3	NP_000274.2:p.(Lys195Ter)	NC_000004.11:g.628580A>T	(Likely) pathogenic	1 lab	11ab55db81
6:10400727 TFAP2A C>T	6	10400727	10400727	C	T	TFAP2A	c.979G>A	NM_003220.2	NP_003211.1:p.(Asp327Asn)	NC_000006.11:g.10400727C>T	(Likely) benign	1 lab	11aca9f844
6:4099426 TEX56P T>C	6	4099426	4099426	T	C	TEX56P	n.1046T>C	NR_104463.1		NC_000006.11:g.4099426T>C	VUS	1 lab	8c161168c5
2:165994438 SCN3A T>C	2	165994438	165994438	T	C	SCN3A	c.2342A>G	NM_006922.4	NP_008853.3:p.(His781Arg)	NC_000002.11:g.165994438T>C	VUS	1 lab	11b7c911e5
11:2170429 IGF2 C>G	11	2170429	2170429	C	G	IGF2	c.-322G>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170429C>G	(Likely) benign	1 lab	8d674b32da
20:57429718 GNAS T>C	20	57429718	57429718	T	C	GNAS	c.1211T>C	NM_001077490.1	NP_001070958.1:p.(Met404Thr)	NC_000020.10:g.57429718T>C	VUS	1 lab	8d6dd8b7de
19:55678021 DNAAF3 G>C	19	55678021	55678021	G	C	DNAAF3	c.-5C>G	NM_001256714.1	NP_001243643.1:p.?	NC_000019.9:g.55678021G>C	VUS	1 lab	8fc5e32d19
14:69149627 RAD51B CTT>C	14	69149627	69149647	CTT	C	RAD51B	c.1037-8_1037-7del	NM_001321818.1	NP_001308747.1:p.?	NC_000014.8:g.69149646_69149647del	(Likely) benign	1 lab	8d7ea31912
17:29559887 NF1 A>T	17	29559887	29559887	A	T	NF1	c.3484A>T	NM_001042492.3	NP_001035957.1:p.(Met1162Leu)	NC_000017.10:g.29559887A>T	VUS	1 lab	11c03a131c
17:7577142 TP53 C>T	17	7577142	7577142	C	T	TP53	c.796G>A	NM_000546.5	NP_000537.3:p.(Gly266Arg)	NC_000017.10:g.7577142C>T	(Likely) pathogenic	1 lab	11c227b511
10:112544145 RBM20 G>A	10	112544145	112544145	G	A	RBM20	c.1384G>A	NM_001134363.2	NP_001127835.2:p.(Ala462Thr)	NC_000010.10:g.112544145G>A	(Likely) benign	1 lab	11c2b27112
7:144097306 NOBOX C>T	7	144097306	144097306	C	T	NOBOX	c.944G>A	NM_001080413.3	NP_001073882.3:p.(Arg315His)	NC_000007.13:g.144097306C>T	VUS	1 lab	8e0dc3cb47
11:2593959 KCNQ1 G>A	11	2593959	2593959	G	A	KCNQ1	c.781-117G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2593959G>A	(Likely) benign	1 lab	6c3800897d
22:21344713 LZTR1 C>A	22	21344713	21344713	C	A	LZTR1	c.690C>A	NM_006767.4	NP_006758.2:p.(Asn230Lys)	NC_000022.10:g.21344713C>A	VUS	1 lab	11c3a716c8
2:80816471 CTNNA2 G>C	2	80816471	80816471	G	C	CTNNA2	c.2050G>C	NM_004389.3	NP_004380.2:p.(Ala684Pro)	NC_000002.11:g.80816471G>C	(Likely) pathogenic	1 lab	11c3dacb34
12:80222118 PPP1R12A C>T	12	80222118	80222118	C	T	PPP1R12A	c.774G>A	NM_002480.3	NP_002471.1:p.(Met258Ile)	NC_000012.11:g.80222118C>T	VUS	1 lab	11c3de34a5
1:151379755 POGZ TG>T	1	151379755	151379757	TG	T	POGZ				NC_000001.10:g.151379757del	(Likely) pathogenic	1 lab	11c4b5a328
11:118359417 KMT2A G>A	11	118359417	118359417	G	A	KMT2A	c.4421G>A	NM_001197104.1	NP_001184033.1:p.(Trp1474Ter)	NC_000011.9:g.118359417G>A	(Likely) pathogenic	1 lab	11c4f96934
3:14176702 TMEM43 C>T	3	14176702	14176702	C	T	TMEM43	c.750C>T	NM_024334.2	NP_077310.1:p.(Gly250=)	NC_000003.11:g.14176702C>T	(Likely) benign	1 lab	11c5a6d3d0
16:89611081 SPG7 C>A	16	89611081	89611081	C	A	SPG7	c.1350C>A	NM_003119.2	NP_003110.1:p.(Ile450=)	NC_000016.9:g.89611081C>A	(Likely) benign	1 lab	11c9f0bfa0
1:241671964 FH G>T	1	241671964	241671964	G	T	FH	c.677C>A	NM_000143.4	NP_000134.2:p.(Ala226Glu)	NC_000001.10:g.241671964G>T	(Likely) benign	1 lab	11c9f4e825
13:32911313 BRCA2 G>C	13	32911313	32911313	G	C	BRCA2	c.2821G>C	NM_000059.3	NP_000050.2:p.(Val941Leu)	NC_000013.10:g.32911313G>C	(Likely) benign	1 lab	11cd8b2a60
19:38951037 RYR1 C>T	19	38951037	38951037	C	T	RYR1	c.2383C>T	NM_000540.2	NP_000531.2:p.(Arg795Cys)	NC_000019.9:g.38951037C>T	VUS	1 lab	11d2a04e1d
6:64574114 EYS C>T	6	64574114	64574114	C	T	EYS	c.7193G>A	NM_001142800.1	NP_001136272.1:p.(Cys2398Tyr)	NC_000006.11:g.64574114C>T	VUS	1 lab	11d627b9b1
20:57430104 GNAS G>A	20	57430104	57430104	G	A	GNAS	c.1597G>A	NM_001077490.1	NP_001070958.1:p.(Gly533Ser)	NC_000020.10:g.57430104G>A	VUS	1 lab	8e60e37e0d
11:108139276 ATM A>G	11	108139276	108139276	A	G	ATM	c.2778A>G	NM_000051.3	NP_000042.3:p.(Lys926=)	NC_000011.9:g.108139276A>G	(Likely) benign	1 lab	11dca8ab21
13:23914336 SACS G>G	13	23914336	23914336	G	G	SACS				NC_000013.10:g.23914336=	(Likely) pathogenic	1 lab	11dd558169
14:102469287 DYNC1H1 G>A	14	102469287	102469287	G	A	DYNC1H1	c.4868G>A	NM_001376.4	NP_001367.2:p.(Arg1623Gln)	NC_000014.8:g.102469287G>A	(Likely) pathogenic	1 lab	11dda3167b
3:39229118 XIRP1 C>A	3	39229118	39229118	C	A	XIRP1	c.1819G>T	NM_194293.4	NP_919269.2:p.(Ala607Ser)	NC_000003.11:g.39229118C>A	(Likely) benign	1 lab	1f18f6ebff
6:79787624 PHIP T>C	6	79787624	79787624	T	C	PHIP	c.47A>G	NM_017934.7	NP_060404.4:p.(Tyr16Cys)	NC_000006.11:g.79787624T>C	(Likely) pathogenic	1 lab	11e1e45c2b
16:79633613 MAF G>A	16	79633613	79633613	G	A	MAF	c.187C>T	NM_005360.5	NP_005351.2:p.(Pro63Ser)	NC_000016.9:g.79633613G>A	VUS	1 lab	11e4a47c55
20:44869697 CDH22 G>A	20	44869697	44869697	G	A	CDH22	c.455C>T	NM_021248.1	NP_067071.1:p.(Ser152Leu)	NC_000020.10:g.44869697G>A	(Likely) benign	1 lab	11e5a8b77f
18:28662429 DSC2 T>A	18	28662429	28662429	T	A	DSC2	c.1078-40A>T	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28662429T>A	(Likely) benign	1 lab	11e9aa36d0
2:166892692 SCN1A C>A	2	166892692	166892692	C	A	SCN1A				NC_000002.11:g.166892692C>A	(Likely) pathogenic	1 lab	11eafc7ae6
1:94522155 ABCA4 A>G	1	94522155	94522155	A	G	ABCA4	c.2382+2T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94522155A>G	(Likely) pathogenic	1 lab	11ee6cc0f2
2:190437572 SLC40A1 G>A	2	190437572	190437572	G	A	SLC40A1	c.387C>T	NM_014585.5	NP_055400.1:p.(Leu129=)	NC_000002.11:g.190437572G>A	(Likely) benign	1 lab	11effab239
1:152280573 FLG C>T	1	152280573	152280573	C	T	FLG	c.6789G>A	NM_002016.1	NP_002007.1:p.(Ala2263=)	NC_000001.10:g.152280573C>T	(Likely) benign	1 lab	11f0424e6f
5:59284433 PDE4D C>T	5	59284433	59284433	C	T	PDE4D	c.154G>A	NM_001165899.1	NP_001159371.1:p.(Ala52Thr)	NC_000005.9:g.59284433C>T	(Likely) benign	1 lab	8e9fff9031
14:64430631 SYNE2 T>C	14	64430631	64430631	T	C	SYNE2	c.903T>C	NM_182914.2	NP_878918.2:p.(Asp301=)	NC_000014.8:g.64430631T>C	(Likely) benign	1 lab	120d2eb960
2:179581815 TTN C>G	2	179581815	179581815	C	G	TTN	c.25639+7G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179581815C>G	(Likely) benign	1 lab	11f51295dc
X:107823768 COL4A5 TC>T	X	107823768	107823770	TC	T	COL4A5	c.788del	NM_033380.2	NP_203699.1:p.(Pro263LeufsTer83)	NC_000023.10:g.107823770del	(Likely) pathogenic	1 lab	11f5adaa5c
3:37067437 MLH1 GA>G	3	37067437	37067438	GA	G	MLH1	c.1349del	NM_000249.4	NP_000240.1:p.(Asp450ValfsTer41)	NC_000003.11:g.37067438del	(Likely) pathogenic	1 lab	11f7385b18
X:47073977 UBA1 G>T	X	47073977	47073977	G	T	UBA1	c.2982G>T	NM_003334.4	NP_003325.2:p.(Val994=)	NC_000023.10:g.47073977G>T	(Likely) benign	1 lab	00f93fb8bf
7:128494150 FLNC C>T	7	128494150	128494150	C	T	FLNC	c.6607C>T	NM_001458.5	NP_001449.3:p.(Arg2203Cys)	NC_000007.13:g.128494150C>T	VUS	1 lab	11f928381d
3:133647212 C3orf36 G>C	3	133647212	133647212	G	C	C3orf36	n.1445C>G	NR_161373.1		NC_000003.11:g.133647212G>C	(Likely) benign	1 lab	8ee122c22b
16:89349812 ANKRD11 AC>CA	16	89349812	89349813	AC	CA	ANKRD11	c.3137_3138delinsTG	NM_013275.5	NP_037407.4:p.(Cys1046Leu)	NC_000016.9:g.89349812_89349813delinsCA	VUS	1 lab	12015b6b4a
19:50813025 MYH14 C>A	19	50813025	50813025	C	A	MYH14	c.6089C>A	NM_001145809.2	NP_001139281.1:p.(Ser2030Tyr)	NC_000019.9:g.50813025C>A	VUS	1 lab	1201ee6464
2:131350415 CFC1 A>G	2	131350415	131350415	A	G	CFC1	c.*35T>C	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131350415A>G	(Likely) benign	1 lab	120339c165
10:102509590 PAX2 T>C	10	102509590	102509590	T	C	PAX2	c.131T>C	NM_003990.4	NP_003981.3:p.(Leu44Pro)	NC_000010.10:g.102509590T>C	VUS	1 lab	120637e181
8:87623896 CNGB3 A>G	8	87623896	87623896	A	G	CNGB3	c.1582T>C	NM_019098.5	NP_061971.3:p.(Cys528Arg)	NC_000008.10:g.87623896A>G	VUS	1 lab	120a0635a5
2:200298127 SATB2 T>TA	2	200298127	200298132	T	TA	SATB2	c.279dup	NM_001172509.2	NP_001165980.1:p.(Ser94Ter)	NC_000002.11:g.200298132dup	(Likely) pathogenic	1 lab	120bd66477
1:43396395 SLC2A1 C>G	1	43396395	43396395	C	G	SLC2A1	c.418G>C	NM_006516.2	NP_006507.2:p.(Val140Leu)	NC_000001.10:g.43396395C>G	VUS	1 lab	120d55f67b
1:152285181 FLG G>T	1	152285181	152285181	G	T	FLG	c.2181C>A	NM_002016.1	NP_002007.1:p.(His727Gln)	NC_000001.10:g.152285181G>T	(Likely) benign	1 lab	120d799f60
11:108186602 ATM G>A	11	108186602	108186602	G	A	ATM	c.6059G>A	NM_000051.4	NP_000042.3:p.(Gly2020Asp)	NC_000011.9:g.108186602G>A	VUS	1 lab	120de796d5
15:93555584 CHD2 G>A	15	93555584	93555584	G	A	CHD2	c.4602G>A	NM_001271.4	NP_001262.3:p.(Trp1534Ter)	NC_000015.9:g.93555584G>A	(Likely) pathogenic	1 lab	12103c82a7
14:64691251 SYNE2 G>T	14	64691251	64691251	G	T	SYNE2	c.20455G>T	NM_182914.2	NP_878918.2:p.(Ala6819Ser)	NC_000014.8:g.64691251G>T	(Likely) benign	1 lab	121371ca17
17:48272681 COL1A1 C>T	17	48272681	48272681	C	T	COL1A1	c.1211G>A	NM_000088.3	NP_000079.2:p.(Gly404Asp)	NC_000017.10:g.48272681C>T	(Likely) pathogenic	1 lab	121487715d
16:23392052 SCNN1B C>A	16	23392052	23392052	C	A	SCNN1B	c.1853C>A	NM_000336.2	NP_000327.2:p.(Pro618His)	NC_000016.9:g.23392052C>A	(Likely) pathogenic	1 lab	1215dba393
11:2593185 KCNQ1 C>T	11	2593185	2593185	C	T	KCNQ1	c.684-58C>T	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2593185C>T	(Likely) benign	1 lab	121815bf20
5:59284544 PDE4D C>T	5	59284544	59284544	C	T	PDE4D	c.43G>A	NM_001165899.1	NP_001159371.1:p.(Ala15Thr)	NC_000005.9:g.59284544C>T	VUS	1 lab	8f8377d8f3
16:81198352 PKD1L2 C>A	16	81198352	81198352	C	A	PKD1L2	c.1187G>T	NM_001278425.1	NP_001265354.1:p.(Gly396Val)	NC_000016.9:g.81198352C>A	(Likely) benign	1 lab	8fd4df6e64
1:16374838 CLCNKB G>A	1	16374838	16374838	G	A	CLCNKB	c.499G>A	NM_000085.4	NP_000076.2:p.(Gly167Ser)	NC_000001.10:g.16374838G>A	VUS	1 lab	121a62ee57
6:107077597 QRSL1 C>T	6	107077597	107077597	C	T	QRSL1	c.24+17C>T	NM_018292.4	NP_060762.3:p.?	NC_000006.11:g.107077597C>T	(Likely) benign	1 lab	121d1f0fbc
8:48889280 MCM4 G>A	8	48889280	48889280	G	A	MCM4	c.2534G>A	NM_005914.4	NP_005905.2:p.(Arg845His)	NC_000008.10:g.48889280G>A	(Likely) benign	1 lab	00ff82d290
2:129026419 HS6ST1 G>A	2	129026419	129026419	G	A	HS6ST1	c.553C>T	NM_004807.3	NP_004798.3:p.(Arg185Ter)	NC_000002.11:g.129026419G>A	VUS	1 lab	121d4863e1
1:201330503 TNNT2 C>T	1	201330503	201330503	C	T	TNNT2	c.720-6G>A	NM_001276345.1	NP_001263274.1:p.?	NC_000001.10:g.201330503C>T	(Likely) benign	1 lab	121e9651e9
13:31903834 B3GLCT G>T	13	31903834	31903834	G	T	B3GLCT	c.*29G>T	NM_194318.3	NP_919299.3:p.?	NC_000013.10:g.31903834G>T	(Likely) benign	1 lab	121f32029a
X:31514918 DMD T>C	X	31514918	31514918	T	C	DMD	c.8534A>G	NM_004006.3	NP_003997.2:p.(Asn2845Ser)	NC_000023.10:g.31514918T>C	(Likely) benign	1 lab	1222c5e225
5:149323772 PDE6A G>A	5	149323772	149323772	G	A	PDE6A	c.465C>T	NM_000440.2	NP_000431.2:p.(Asn155=)	NC_000005.9:g.149323772G>A	(Likely) benign	1 lab	12234f4408
8:41791705 KAT6A GCT>G	8	41791705	41791708	GCT	G	KAT6A				NC_000008.10:g.41791707_41791708del	(Likely) pathogenic	1 lab	1226689caf
5:90098550 ADGRV1 T>C	5	90098550	90098550	T	C	ADGRV1	c.14518-6T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90098550T>C	(Likely) benign	1 lab	0105162846
19:39058482 RYR1 C>G	19	39058482	39058482	C	G	RYR1	c.13584C>G	NM_000540.2	NP_000531.2:p.(Pro4528=)	NC_000019.9:g.39058482C>G	(Likely) benign	1 lab	123037da65
4:68620032 GNRHR C>T	4	68620032	68620032	C	T	GNRHR	c.22G>A	NM_000406.2	NP_000397.1:p.(Glu8Lys)	NC_000004.11:g.68620032C>T	VUS	1 lab	123058638b
6:45514563 RUNX2 G>A	6	45514563	45514563	G	A	RUNX2	c.1088-1G>A	NM_001024630.3	NP_001019801.3:p.?	NC_000006.11:g.45514563G>A	(Likely) pathogenic	1 lab	1232025611
13:32931987 BRCA2 G>A	13	32931987	32931987	G	A	BRCA2	c.7726G>A	NM_000059.3	NP_000050.2:p.(Gly2576Arg)	NC_000013.10:g.32931987G>A	(Likely) benign	1 lab	12352ac493
1:165173216 LMX1A A>G	1	165173216	165173216	A	G	LMX1A	c.1050T>C	NM_177398.3	NP_796372.1:p.(Asp350=)	NC_000001.10:g.165173216A>G	(Likely) benign	1 lab	1235313ee4
13:23906340 SACS G>C	13	23906340	23906340	G	C	SACS	c.11675C>G	NM_014363.4	NP_055178.3:p.(Ser3892Ter)	NC_000013.10:g.23906340G>C	(Likely) pathogenic	1 lab	1235d2b621
1:21835607 ALPL C>G	1	21835607	21835607	C	G	ALPL	c.-105+38C>G	NM_001369804.2	NP_001356733.1:p.?	NC_000001.10:g.21835607C>G	(Likely) benign	1 lab	9036235066
X:77266986 ATP7A C>T	X	77266986	77266986	C	T	ATP7A	c.1987C>T	NM_000052.7	NP_000043.4:p.(Pro663Ser)	NC_000023.10:g.77266986C>T	VUS	1 lab	12389177ac
9:95481461 BICD2 T>C	9	95481461	95481461	T	C	BICD2	c.1466A>G	NM_001003800.2	NP_001003800.1:p.(Glu489Gly)	NC_000009.11:g.95481461T>C	VUS	1 lab	123902621e
1:236906325 ACTN2 C>T	1	236906325	236906325	C	T	ACTN2	c.1237C>T	NM_001103.2	NP_001094.1:p.(His413Tyr)	NC_000001.10:g.236906325C>T	VUS	1 lab	1239b16527
2:216283983 FN1 G>C	2	216283983	216283983	G	C	FN1	c.1801C>G	NM_212482.2	NP_997647.1:p.(Pro601Ala)	NC_000002.11:g.216283983G>C	VUS	1 lab	123e8c5d34
1:197390256 CRB1 A>G	1	197390256	197390256	A	G	CRB1	c.1298A>G	NM_201253.2	NP_957705.1:p.(Tyr433Cys)	NC_000001.10:g.197390256A>G	VUS	1 lab	12627a787d
11:119148938 CBL AAATGAT>A	11	119148938	119148946	AAATGAT	A	CBL	c.1161_1166del	NM_005188.4	NP_005179.2:p.(Asn387_Asp388del)	NC_000011.9:g.119148941_119148946del	VUS	1 lab	123e9c93db
4:187209661 F11 G>A	4	187209661	187209661	G	A	F11	c.1771G>A	NM_000128.3	NP_000119.1:p.(Gly591Ser)	NC_000004.11:g.187209661G>A	(Likely) pathogenic	1 lab	1241fd4581
7:155595912 SHH G>T	7	155595912	155595912	G	T	SHH	c.1071C>A	NM_000193.3	NP_000184.1:p.(Asn357Lys)	NC_000007.13:g.155595912G>T	(Likely) pathogenic	1 lab	1242b022d6
13:32889792 BRCA2 A>G	13	32889792	32889792	A	G	BRCA2				NC_000013.10:g.32889792A>G	(Likely) benign	1 lab	c6c8bcc960
2:47656897 MSH2 G>A	2	47656897	47656897	G	A	MSH2	c.1093G>A	NM_000251.2	NP_000242.1:p.(Ala365Thr)	NC_000002.11:g.47656897G>A	(Likely) benign	1 lab	12445ef294
1:214814988 CENPF T>C	1	214814988	214814988	T	C	CENPF	c.3307T>C	NM_016343.4	NP_057427.3:p.(Leu1103=)	NC_000001.10:g.214814988T>C	(Likely) benign	1 lab	01056c26f7
16:56903737 SLC12A3 G>A	16	56903737	56903737	G	A	SLC12A3	c.601+1G>A	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56903737G>A	(Likely) pathogenic	1 lab	125307607c
10:90773944 FAS G>T	10	90773944	90773944	G	T	FAS	c.745G>T	NM_000043.4	NP_000034.1:p.(Val249Phe)	NC_000010.10:g.90773944G>T	VUS	1 lab	095e3b59d5
5:112111321 APC A>G	5	112111321	112111321	A	G	APC	c.423-5A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111321A>G	(Likely) pathogenic	1 lab	1253e054ea
3:71021727 FOXP1 C>T	3	71021727	71021727	C	T	FOXP1	c.1631G>A	NM_032682.6	NP_116071.2:p.(Arg544Gln)	NC_000003.11:g.71021727C>T	(Likely) pathogenic	1 lab	1254852390
6:157528513 ARID1B A>T	6	157528513	157528513	A	T	ARID1B	c.6238A>T	NM_020732.3	NP_065783.3:p.(Arg2080Ter)	NC_000006.11:g.157528513A>T	(Likely) pathogenic	1 lab	1254ad4c06
7:150655100 KCNH2 CAGA>C	7	150655100	150655108	CAGA	C	KCNH2	c.916+44_916+46del	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150655106_150655108del	(Likely) benign	1 lab	125671f4f8
22:36784014 MYH9 C>T	22	36784014	36784014	C	T	MYH9	c.-182G>A	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36784014C>T	(Likely) benign	1 lab	1258b3d6c8
X:107924197 COL4A5 T>C	X	107924197	107924197	T	C	COL4A5	c.4087+11T>C	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107924197T>C	(Likely) benign	1 lab	125d311f7e
6:76623951 MYO6 G>A	6	76623951	76623951	G	A	MYO6	c.3611G>A	NM_004999.4	NP_004990.3:p.(Arg1204Gln)	NC_000006.11:g.76623951G>A	VUS	1 lab	125ff5a1d5
5:112175198 APC CA>C	5	112175198	112175201	CA	C	APC	c.3910del	NM_000038.6	NP_000029.2:p.(Ile1304Ter)	NC_000005.9:g.112175201del	(Likely) pathogenic	1 lab	126797f43f
X:119603021 LAMP2 C>G	X	119603021	119603021	C	G	LAMP2	c.4G>C	NM_002294.2	NP_002285.1:p.(Val2Leu)	NC_000023.10:g.119603021C>G	VUS	1 lab	126826f1ed
9:73235280 TRPM3 T>A	9	73235280	73235280	T	A	TRPM3	c.1346A>T	NM_020952.4	NP_066003.3:p.(Asp449Val)	NC_000009.11:g.73235280T>A	VUS	1 lab	126a5cae73
12:6483903 SCNN1A G>T	12	6483903	6483903	G	T	SCNN1A	c.47C>A	NM_001038.6	NP_001029.1:p.(Ser16Tyr)	NC_000012.11:g.6483903G>T	(Likely) benign	1 lab	126c1acd04
1:222750984 TAF1A A>G	1	222750984	222750984	A	G	TAF1A	c.407T>C	NM_005681.4	NP_005672.1:p.(Ile136Thr)	NC_000001.10:g.222750984A>G	VUS	1 lab	126ce7eb3a
12:92538132 BTG1 A>C	12	92538132	92538132	A	C	BTG1	c.240T>G	NM_001731.2	NP_001722.1:p.(Ile80Met)	NC_000012.11:g.92538132A>C	VUS	1 lab	126d4496ee
11:76885827 MYO7A G>A	11	76885827	76885827	G	A	MYO7A				NC_000011.9:g.76885827G>A	VUS	1 lab	c5c3fa09df
X:136649181 ZIC3 G>A	X	136649181	136649181	G	A	ZIC3	c.331G>A	NM_003413.3	NP_003404.1:p.(Ala111Thr)	NC_000023.10:g.136649181G>A	VUS	1 lab	1274ebe4a7
22:25621004 CRYBB2 G>A	22	25621004	25621004	G	A	CRYBB2	c.173+1G>A	NM_000496.2	NP_000487.1:p.?	NC_000022.10:g.25621004G>A	(Likely) pathogenic	1 lab	127515dfc5
X:152939518 PNCK C>T	X	152939518	152939518	C	T	PNCK	c.113G>A	NM_001039582.3	NP_001034671.3:p.(Gly38Glu)	NC_000023.10:g.152939518C>T	(Likely) benign	1 lab	903bf873f1
1:94466628 ABCA4 G>A	1	94466628	94466628	G	A	ABCA4	c.6316C>T	NM_000350.2	NP_000341.2:p.(Arg2106Cys)	NC_000001.10:g.94466628G>A	(Likely) pathogenic	1 lab	127917a66c
7:128477783 FLNC G>A	7	128477783	128477783	G	A	FLNC	c.943G>A	NM_001458.5	NP_001449.3:p.(Glu315Lys)	NC_000007.13:g.128477783G>A	VUS	1 lab	12825aabf9
17:7121040 ACADVL C>T	17	7121040	7121040	C	T	ACADVL	c.34C>T	NM_001270447.1	NP_001257376.1:p.(Arg12Trp)	NC_000017.10:g.7121040C>T	VUS	1 lab	903d4a17e8
7:66460373 SBDS C>T	7	66460373	66460373	C	T	SBDS	c.32G>A	NM_016038.2	NP_057122.2:p.(Arg11His)	NC_000007.13:g.66460373C>T	(Likely) pathogenic	1 lab	128bc0e985
6:112476920 LAMA4 C>T	6	112476920	112476920	C	T	LAMA4	c.1818-12G>A	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112476920C>T	VUS	1 lab	1290eb0c4d
2:233208283 DIS3L2 T>A	2	233208283	233208283	T	A	DIS3L2	c.1810T>A	NM_001257281.1	NP_001244210.1:p.(Ter604ArgextTer21)	NC_000002.11:g.233208283T>A	VUS	1 lab	9085843da5
18:29125721 DSG2 C>A	18	29125721	29125721	C	A	DSG2	c.2372C>A	NM_001943.4	NP_001934.2:p.(Thr791Lys)	NC_000018.9:g.29125721C>A	(Likely) benign	1 lab	1292bfe05c
1:196695760 CFH G>T	1	196695760	196695760	G	T	CFH	c.2034G>T	NM_000186.4	NP_000177.2:p.(Trp678Cys)	NC_000001.10:g.196695760G>T	(Likely) pathogenic	1 lab	1293edaa33
X:153459003 OPN1MW A>C	X	153459003	153459003	A	C	OPN1MW	c.849A>C	NM_000513.2	NP_000504.1:p.(Pro283=)	NC_000023.10:g.153459003A>C	(Likely) benign	1 lab	129436d9c7
6:43006739 CUL7 G>T	6	43006739	43006739	G	T	CUL7	c.4295-14C>A	NM_014780.4	NP_055595.2:p.?	NC_000006.11:g.43006739G>T	(Likely) benign	1 lab	129517013f
11:103191757 DYNC2H1 G>A	11	103191757	103191757	G	A	DYNC2H1	c.11747-1G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103191757G>A	(Likely) pathogenic	1 lab	129536ea37
X:107938637 COL4A5 G>A	X	107938637	107938637	G	A	COL4A5	c.4962G>A	NM_033380.2	NP_203699.1:p.(Trp1654Ter)	NC_000023.10:g.107938637G>A	(Likely) pathogenic	1 lab	1296f94b8c
X:100611044 BTK T>C	X	100611044	100611044	T	C	BTK	c.1562A>G	NM_000061.2	NP_000052.1:p.(Asp521Gly)	NC_000023.10:g.100611044T>C	(Likely) pathogenic	1 lab	01085de30d
21:15974379 SAMSN1 A>C	21	15974379	15974379	A	C	SAMSN1	c.364T>G	NM_001256579.3	NP_001243508.3:p.(Tyr122Asp)	NC_000021.8:g.15974379A>C	VUS	1 lab	90d7ce2cc6
13:32968918 BRCA2 CAT>C	13	32968918	32968922	CAT	C	BRCA2	c.9352_9353del	NM_000059.3	NP_000050.2:p.(Met3118ValfsTer31)	NC_000013.10:g.32968921_32968922del	(Likely) pathogenic	1 lab	129ac47a95
13:32903657 BRCA2 G>A	13	32903657	32903657	G	A	BRCA2	c.681+28G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903657G>A	(Likely) benign	1 lab	129c01f908
16:81193358 PKD1L2 C>G	16	81193358	81193358	C	G	PKD1L2	c.1710G>C	NM_001278425.1	NP_001265354.1:p.(Leu570Phe)	NC_000016.9:g.81193358C>G	(Likely) benign	1 lab	912e86f231
20:42744586 JPH2 C>T	20	42744586	42744586	C	T	JPH2	c.1729G>A	NM_020433.4	NP_065166.2:p.(Glu577Lys)	NC_000020.10:g.42744586C>T	(Likely) benign	1 lab	129d8a7f2c
13:32899321 BRCA2 G>T	13	32899321	32899321	G	T	BRCA2	c.425G>T	NM_000059.3	NP_000050.2:p.(Ser142Ile)	NC_000013.10:g.32899321G>T	(Likely) benign	1 lab	129faf02a1
7:99701313 AP4M1 C>T	7	99701313	99701313	C	T	AP4M1	c.541C>T	NM_004722.3	NP_004713.2:p.(Gln181Ter)	NC_000007.13:g.99701313C>T	(Likely) pathogenic	1 lab	12a1230412
12:114793612 TBX5 C>T	12	114793612	114793612	C	T	TBX5	c.1282G>A	NM_000192.3	NP_000183.2:p.(Ala428Thr)	NC_000012.11:g.114793612C>T	(Likely) benign	1 lab	12a1a07359
11:108150311 ATM A>G	11	108150311	108150311	A	G	ATM	c.3378A>G	NM_000051.3	NP_000042.3:p.(Lys1126=)	NC_000011.9:g.108150311A>G	(Likely) benign	1 lab	12a24d3bff
17:7578406 TP53 C>A	17	7578406	7578406	C	A	TP53	c.524G>T	NM_000546.5	NP_000537.3:p.(Arg175Leu)	NC_000017.10:g.7578406C>A	(Likely) pathogenic	1 lab	12a35165e3
1:94520732 ABCA4 T>G	1	94520732	94520732	T	G	ABCA4	c.2522A>C	NM_000350.2	NP_000341.2:p.(Gln841Pro)	NC_000001.10:g.94520732T>G	VUS	1 lab	12a72ad929
13:100953808 PCCA C>G	13	100953808	100953808	C	G	PCCA	c.1160C>G	NM_000282.3	NP_000273.2:p.(Ala387Gly)	NC_000013.10:g.100953808C>G	VUS	1 lab	12a80a5b62
5:112170683 APC G>A	5	112170683	112170683	G	A	APC	c.1779G>A	NM_000038.6	NP_000029.2:p.(Trp593Ter)	NC_000005.9:g.112170683G>A	(Likely) pathogenic	1 lab	12a8cb0718
19:6697381 C3 C>T	19	6697381	6697381	C	T	C3	c.2770G>A	NM_000064.4	NP_000055.2:p.(Gly924Ser)	NC_000019.9:g.6697381C>T	VUS	1 lab	12aad97e1b
X:153580379 FLNA A>ACTG	X	153580379	153580382	A	ACTG	FLNA				NC_000023.10:g.153580380_153580382dup	(Likely) pathogenic	1 lab	12aba65f62
8:97157524 GDF6 C>T	8	97157524	97157524	C	T	GDF6	c.635G>A	NM_001001557.4	NP_001001557.1:p.(Trp212Ter)	NC_000008.10:g.97157524C>T	VUS	1 lab	12abc61385
8:144993862 PLEC C>T	8	144993862	144993862	C	T	PLEC	c.10538G>A	NM_201380.3	NP_958782.1:p.(Arg3513His)	NC_000008.10:g.144993862C>T	VUS	1 lab	12ad73337c
4:187538942 FAT1 T>A	4	187538942	187538942	T	A	FAT1	c.8798A>T	NM_005245.4	NP_005236.2:p.(Gln2933Leu)	NC_000004.11:g.187538942T>A	(Likely) benign	1 lab	01088ffcf8
4:155530786 FGG T>G	4	155530786	155530786	T	G	FGG	c.662A>C	NM_021870.2	NP_068656.2:p.(Gln221Pro)	NC_000004.11:g.155530786T>G	VUS	1 lab	12b8f29af6
2:48036824 FBXO11 T>C	2	48036824	48036824	T	C	FBXO11	c.2361A>G	NM_001190274.2	NP_001177203.1:p.(Ala787=)	NC_000002.11:g.48036824T>C	(Likely) benign	1 lab	12b8f657e7
X:152939474 PNCK C>T	X	152939474	152939474	C	T	PNCK	c.157G>A	NM_001039582.3	NP_001034671.3:p.(Gly53Arg)	NC_000023.10:g.152939474C>T	VUS	1 lab	915fc4c0d9
1:237806695 RYR2 A>G	1	237806695	237806695	A	G	RYR2	c.7290A>G	NM_001035.2	NP_001026.2:p.(Gly2430=)	NC_000001.10:g.237806695A>G	(Likely) benign	1 lab	12b9b5e72f
X:71886030 PHKA1 T>C	X	71886030	71886030	T	C	PHKA1	c.835A>G	NM_002637.4	NP_002628.2:p.(Thr279Ala)	NC_000023.10:g.71886030T>C	(Likely) benign	1 lab	12bdd8a408
18:43435620 EPG5 A>C	18	43435620	43435620	A	C	EPG5	c.7475T>G	NM_020964.2	NP_066015.2:p.(Phe2492Cys)	NC_000018.9:g.43435620A>C	VUS	1 lab	12be253ec1
2:165950944 SCN3A A>G	2	165950944	165950944	A	G	SCN3A	c.4476T>C	NM_006922.4	NP_008853.3:p.(Tyr1492=)	NC_000002.11:g.165950944A>G	(Likely) benign	1 lab	12c0f4fce4
1:196797292 CFHR1 G>C	1	196797292	196797292	G	C	CFHR1				NC_000001.10:g.196797292G>C	(Likely) benign	1 lab	6464b51f31
3:37056000 MLH1 C>A	3	37056000	37056000	C	A	MLH1	c.755C>A	NM_000249.3	NP_000240.1:p.(Ser252Ter)	NC_000003.11:g.37056000C>A	(Likely) pathogenic	1 lab	12c331a03c
5:127419844 SLC12A2 C>G	5	127419844	127419844	C	G	SLC12A2	c.198C>G	NM_001046.3	NP_001037.1:p.(Asp66Glu)	NC_000005.9:g.127419844C>G	(Likely) benign	1 lab	12c6a67f2f
17:41228505 BRCA1 C>G	17	41228505	41228505	C	G	BRCA1	c.4484G>C	NM_007294.3	NP_009225.1:p.(Arg1495Thr)	NC_000017.10:g.41228505C>G	(Likely) pathogenic	1 lab	12c6e48cd6
7:100275735 GNB2 T>C	7	100275735	100275735	T	C	GNB2	c.512T>C	NM_005273.3	NP_005264.2:p.(Ile171Thr)	NC_000007.13:g.100275735T>C	VUS	1 lab	12c8422437
2:179433042 TTN A>G	2	179433042	179433042	A	G	TTN	c.77817T>C	NM_001267550.2	NP_001254479.2:p.(Asp25939=)	NC_000002.11:g.179433042A>G	(Likely) benign	1 lab	12c99bf717
10:50822376 CHAT C>G	10	50822376	50822376	C	G	CHAT	c.141C>G	NM_020549.5	NP_065574.4:p.(Asp47Glu)	NC_000010.10:g.50822376C>G	(Likely) benign	1 lab	12caee5faf
8:27320865 CHRNA2 C>T	8	27320865	27320865	C	T	CHRNA2	c.1095G>A	NM_000742.4	NP_000733.2:p.(Trp365Ter)	NC_000008.10:g.27320865C>T	(Likely) benign	1 lab	12cc3cd7b7
11:66478461 SPTBN2 G>T	11	66478461	66478461	G	T	SPTBN2	c.812C>A	NM_006946.2	NP_008877.1:p.(Thr271Asn)	NC_000011.9:g.66478461G>T	(Likely) pathogenic	1 lab	12cd813c66
7:6035274 PMS2 A>C	7	6035274	6035274	A	C	PMS2	c.804-10T>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6035274A>C	(Likely) pathogenic	1 lab	12d0bad4cc
20:50701298 ZFP64 G>A	20	50701298	50701298	G	A	ZFP64	c.1079C>T	NM_001319146.1	NP_001306075.1:p.(Ala360Val)	NC_000020.10:g.50701298G>A	VUS	1 lab	916c4bb401
5:121413051 LOX G>T	5	121413051	121413051	G	T	LOX	c.630C>A	NM_002317.7	NP_002308.2:p.(Tyr210Ter)	NC_000005.9:g.121413051G>T	(Likely) pathogenic	1 lab	0109c362bb
4:15575949 CC2D2A G>A	4	15575949	15575949	G	A	CC2D2A				NC_000004.11:g.15575949G>A	VUS	1 lab	12d59d768c
3:38601556 SCN5A T>C	3	38601556	38601556	T	C	SCN5A	c.4245+82A>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38601556T>C	(Likely) benign	1 lab	12d6ac2fdf
13:32914432 BRCA2 A>G	13	32914432	32914432	A	G	BRCA2	c.5940A>G	NM_000059.3	NP_000050.2:p.(Thr1980=)	NC_000013.10:g.32914432A>G	(Likely) benign	1 lab	12df1c2556
9:75309458 TMC1 G>C	9	75309458	75309458	G	C	TMC1	c.65-1G>C	NM_138691.3	NP_619636.2:p.?	NC_000009.11:g.75309458G>C	VUS	1 lab	12dfac5e75
1:216500979 USH2A C>T	1	216500979	216500979	C	T	USH2A	c.802G>A	NM_206933.4	NP_996816.3:p.(Gly268Arg)	NC_000001.10:g.216500979C>T	(Likely) pathogenic	1 lab	12e283df7f
15:43895561 STRC C>T	15	43895561	43895561	C	T	STRC	c.4424G>A	NM_153700.2	NP_714544.1:p.(Trp1475Ter)	NC_000015.9:g.43895561C>T	(Likely) pathogenic	1 lab	12e3b7522a
11:47353063 MYBPC3 CT>C	11	47353063	47353067	CT	C	MYBPC3	c.*230del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353067del	(Likely) benign	1 lab	12e4056abd
10:73562744 CDH23 G>A	10	73562744	73562744	G	A	CDH23	c.7572G>A	NM_022124.5	NP_071407.4:p.(Ala2524=)	NC_000010.10:g.73562744G>A	(Likely) benign	1 lab	12e445e45f
8:140631135 KCNK9 A>C	8	140631135	140631135	A	C	KCNK9	c.491T>G	NM_001282534.2	NP_001269463.1:p.(Phe164Cys)	NC_000008.10:g.140631135A>C	VUS	1 lab	12e7291f14
1:109649283 CFAP276 T>C	1	109649283	109649283	T	C	CFAP276	c.315-2A>G	NM_001245025.3	NP_001231954.1:p.?	NC_000001.10:g.109649283T>C	VUS	1 lab	12ea83400d
3:37053356 MLH1 A>C	3	37053356	37053356	A	C	MLH1	c.588+3A>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053356A>C	VUS	1 lab	12eae976f4
X:138643980 F9 G>A	X	138643980	138643980	G	A	F9	c.1136G>A	NM_000133.3	NP_000124.1:p.(Arg379Gln)	NC_000023.10:g.138643980G>A	(Likely) pathogenic	1 lab	12ed31bcec
1:236906233 ACTN2 A>G	1	236906233	236906233	A	G	ACTN2	c.1145A>G	NM_001103.3	NP_001094.1:p.(Glu382Gly)	NC_000001.10:g.236906233A>G	VUS	1 lab	12f13fb91e
11:119167651 CBL C>T	11	119167651	119167651	C	T	CBL				NC_000011.9:g.119167651C>T	(Likely) benign	1 lab	12f310a0c8
11:47359123 MYBPC3 GATGT>G	11	47359123	47359128	GATGT	G	MYBPC3	c.2417_2420del	NM_000256.3	NP_000247.2:p.(Tyr806SerfsTer15)	NC_000011.9:g.47359125_47359128del	(Likely) pathogenic	1 lab	12f35d1daa
10:70182584 DNA2 A>C	10	70182584	70182584	A	C	DNA2	c.2272T>G	NM_001080449.3	NP_001073918.2:p.(Phe758Val)	NC_000010.10:g.70182584A>C	(Likely) benign	1 lab	12f664bf9f
8:22853395 RHOBTB2 G>A	8	22853395	22853395	G	A	RHOBTB2	c.56+1243G>A	NM_001160036.1	NP_001153508.1:p.?	NC_000008.10:g.22853395G>A	VUS	1 lab	91e4c17c2e
14:38060709 FOXA1 G>A	14	38060709	38060709	G	A	FOXA1	c.1280C>T	NM_004496.5	NP_004487.2:p.(Ser427Leu)	NC_000014.8:g.38060709G>A	VUS	1 lab	12fbd3e9ab
11:686873 DEAF1 C>A	11	686873	686873	C	A	DEAF1	c.789G>T	NM_021008.4	NP_066288.2:p.(Leu263Phe)	NC_000011.9:g.686873C>A	VUS	1 lab	12fc09bbd3
14:95574408 DICER1 G>C	14	95574408	95574408	G	C	DICER1	c.2459C>G	NM_177438.3	NP_803187.1:p.(Thr820Arg)	NC_000014.8:g.95574408G>C	VUS	1 lab	1300e78834
17:44289863 KANSL1 G>A	17	44289863	44289863	G	A	KANSL1	c.-90+11174C>T	NM_001193465.1	NP_001180394.1:p.?	NC_000017.10:g.44289863G>A	(Likely) benign	1 lab	91f208bbfe
1:197008365 F13B C>T	1	197008365	197008365	C	T	F13B	c.*143G>A	NM_001994.2	NP_001985.2:p.?	NC_000001.10:g.197008365C>T	(Likely) benign	1 lab	1301a04fea
17:57774826 PTRH2 CT>C	17	57774826	57774829	CT	C	PTRH2	c.513del	NM_016077.4	NP_057161.1:p.(Val172SerfsTer5)	NC_000017.10:g.57774829del	(Likely) pathogenic	1 lab	13030c77d7
3:38936099 SCN11A C>T	3	38936099	38936099	C	T	SCN11A	c.2760G>A	NM_014139.2	NP_054858.2:p.(Ala920=)	NC_000003.11:g.38936099C>T	(Likely) benign	1 lab	1303700347
19:7593806 MCOLN1 G>T	19	7593806	7593806	G	T	MCOLN1	c.1084G>T	NM_020533.2	NP_065394.1:p.(Asp362Tyr)	NC_000019.9:g.7593806G>T	(Likely) pathogenic	1 lab	130525249e
2:133075591 ZNF285CP C>T	2	133075591	133075591	C	T	ZNF285CP	c.143-2150C>T	NM_001355461.1	NP_001342390.1:p.?	NC_000002.11:g.133075591C>T	VUS	1 lab	927274934d
19:49686174 TRPM4 G>A	19	49686174	49686174	G	A	TRPM4	c.1603G>A	NM_017636.3	NP_060106.2:p.(Glu535Lys)	NC_000019.9:g.49686174G>A	(Likely) benign	1 lab	130cb55f83
2:167285773 SCN7A T>C	2	167285773	167285773	T	C	SCN7A	c.2604A>G	NM_002976.4	NP_002967.2:p.(Gln868=)	NC_000002.11:g.167285773T>C	(Likely) benign	1 lab	130dbfce01
X:135278978 FHL1 C>G	X	135278978	135278978	C	G	FHL1	c.-26-9588C>G	NM_001159700.1	NP_001153172.1:p.?	NC_000023.10:g.135278978C>G	VUS	1 lab	92a259af1c
2:167263142 SCN7A T>C	2	167263142	167263142	T	C	SCN7A	c.3997A>G	NM_002976.4	NP_002967.2:p.(Met1333Val)	NC_000002.11:g.167263142T>C	(Likely) benign	1 lab	130f7e00c0
10:16873244 CUBN G>T	10	16873244	16873244	G	T	CUBN	c.10528+7C>A	NM_001081.3	NP_001072.2:p.?	NC_000010.10:g.16873244G>T	(Likely) benign	1 lab	1f1cfd73c5
12:6131958 VWF T>C	12	6131958	6131958	T	C	VWF	c.3486A>G	NM_000552.3	NP_000543.2:p.(Pro1162=)	NC_000012.11:g.6131958T>C	(Likely) benign	1 lab	1311095544
9:117848272 TNC A>G	9	117848272	117848272	A	G	TNC	c.1738T>C	NM_002160.4	NP_002151.2:p.(Cys580Arg)	NC_000009.11:g.117848272A>G	VUS	1 lab	1311cf2b61
8:87751870 CNGB3 A>C	8	87751870	87751870	A	C	CNGB3	c.211+13T>G	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87751870A>C	(Likely) benign	1 lab	13179fd971
1:155447986 ASH1L G>A	1	155447986	155447986	G	A	ASH1L	c.4675C>T	NM_018489.2	NP_060959.2:p.(Arg1559Ter)	NC_000001.10:g.155447986G>A	(Likely) pathogenic	1 lab	132030d46f
6:7542287 DSP G>C	6	7542287	7542287	G	C	DSP	c.139G>C	NM_004415.3	NP_004406.2:p.(Val47Leu)	NC_000006.11:g.7542287G>C	(Likely) benign	1 lab	1320cddc63
5:176638818 NSD1 G>C	5	176638818	176638818	G	C	NSD1	c.3418G>C	NM_022455.4	NP_071900.2:p.(Val1140Leu)	NC_000005.9:g.176638818G>C	(Likely) benign	1 lab	1321cd8377
15:48812992 FBN1 G>T	15	48812992	48812992	G	T	FBN1	c.1011C>A	NM_000138.4	NP_000129.3:p.(Tyr337Ter)	NC_000015.9:g.48812992G>T	VUS	1 lab	13248618ae
9:137534061 COL5A1 C>T	9	137534061	137534061	C	T	COL5A1	c.28C>T	NM_000093.5	NP_000084.3:p.(Arg10Cys)	NC_000009.11:g.137534061C>T	VUS	1 lab	132523ccf8
6:10803979 MAK A>G	6	10803979	10803979	A	G	MAK	c.637T>C	NM_005906.5	NP_005897.1:p.(Cys213Arg)	NC_000006.11:g.10803979A>G	VUS	1 lab	132986f38c
7:139480534 TBXAS1 CT>C	7	139480534	139480536	CT	C	TBXAS1	c.-314-3del	NM_001130966.2	NP_001124438.1:p.?	NC_000007.13:g.139480536del	(Likely) benign	1 lab	9313f2421c
17:41197210 BRCA1 C>T	17	41197210	41197210	C	T	BRCA1	c.*485G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197210C>T	(Likely) benign	1 lab	132b43aace
20:57428367 GNAS G>A	20	57428367	57428367	G	A	GNAS	c.-141G>A	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428367G>A	VUS	1 lab	938af22368
1:197411334 CRB1 G>A	1	197411334	197411334	G	A	CRB1	c.3917G>A	NM_201253.3	NP_957705.1:p.(Cys1306Tyr)	NC_000001.10:g.197411334G>A	VUS	1 lab	132d8974c4
4:103500200 NFKB1 A>G	4	103500200	103500200	A	G	NFKB1	c.730+4A>G	NM_003998.3	NP_003989.2:p.?	NC_000004.11:g.103500200A>G	(Likely) pathogenic	1 lab	1333b33d3f
4:995343 IDUA C>G	4	995343	995343	C	G	IDUA	c.581C>G	NM_000203.4	NP_000194.2:p.(Thr194Ser)	NC_000004.11:g.995343C>G	(Likely) benign	1 lab	13366080bc
4:155510674 FGA C>T	4	155510674	155510674	C	T	FGA	c.95G>A	NM_000508.4	NP_000499.1:p.(Gly32Glu)	NC_000004.11:g.155510674C>T	(Likely) pathogenic	1 lab	133714d7bd
12:6122646 VWF C>T	12	6122646	6122646	C	T	VWF	c.5620+1G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6122646C>T	(Likely) pathogenic	1 lab	133a1ae45f
17:72931976 OTOP3 C>G	17	72931976	72931976	C	G	OTOP3	c.-41C>G	NM_001272005.1	NP_001258934.1:p.?	NC_000017.10:g.72931976C>G	(Likely) benign	1 lab	93ae3a5636
17:7916531 GUCY2D C>T	17	7916531	7916531	C	T	GUCY2D	c.2224C>T	NM_000180.3	NP_000171.1:p.(Arg742Cys)	NC_000017.10:g.7916531C>T	VUS	1 lab	133ccd3da0
X:18662659 RS1 G>T	X	18662659	18662659	G	T	RS1	c.413C>A	NM_000330.4	NP_000321.1:p.(Thr138Asn)	NC_000023.10:g.18662659G>T	(Likely) pathogenic	1 lab	1345946bb4
15:72511415 PKM G>A	15	72511415	72511415	G	A	PKM	c.24C>T	NM_002654.6	NP_002645.3:p.(Ala8=)	NC_000015.9:g.72511415G>A	(Likely) benign	1 lab	1346ef0220
5:112170770 APC C>A	5	112170770	112170770	C	A	APC	c.1866C>A	NM_000038.6	NP_000029.2:p.(Tyr622Ter)	NC_000005.9:g.112170770C>A	(Likely) pathogenic	1 lab	1347483f52
8:10465344 RP1L1 C>A	8	10465344	10465344	C	A	RP1L1	c.6264G>T	NM_178857.5	NP_849188.4:p.(Gln2088His)	NC_000008.10:g.10465344C>A	(Likely) benign	1 lab	134842e5c4
1:215848720 USH2A G>C	1	215848720	215848720	G	C	USH2A	c.12533C>G	NM_206933.4	NP_996816.3:p.(Pro4178Arg)	NC_000001.10:g.215848720G>C	VUS	1 lab	1354a3c541
2:179422146 TTN A>G	2	179422146	179422146	A	G	TTN	c.87843T>C	NM_001267550.2	NP_001254479.2:p.(Ser29281=)	NC_000002.11:g.179422146A>G	(Likely) benign	1 lab	1354b960c7
13:101881777 NALCN G>A	13	101881777	101881777	G	A	NALCN	c.1593C>T	NM_052867.3	NP_443099.1:p.(Val531=)	NC_000013.10:g.101881777G>A	(Likely) benign	1 lab	13580cba75
13:25466955 CENPJ T>C	13	25466955	25466955	T	C	CENPJ				NC_000013.10:g.25466955T>C	(Likely) benign	1 lab	c7882ee8e4
8:145736791 RECQL4 C>T	8	145736791	145736791	C	T	RECQL4	c.*23G>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145736791C>T	VUS	1 lab	135a38b814
20:57429136 GNAS G>A	20	57429136	57429136	G	A	GNAS	c.629G>A	NM_001077490.1	NP_001070958.1:p.(Arg210His)	NC_000020.10:g.57429136G>A	VUS	1 lab	94e2539500
3:38521144 ACVR2B C>T	3	38521144	38521144	C	T	ACVR2B	c.811-25C>T	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38521144C>T	(Likely) benign	1 lab	135cf6d9d2
2:223086088 PAX3 G>A	2	223086088	223086088	G	A	PAX3				NC_000002.11:g.223086088G>A	(Likely) pathogenic	1 lab	13661b88bb
9:138657034 KCNT1 G>A	9	138657034	138657034	G	A	KCNT1	c.1193G>A	NM_020822.2	NP_065873.2:p.(Arg398Gln)	NC_000009.11:g.138657034G>A	(Likely) pathogenic	1 lab	13673e0109
8:41794987 KAT6A C>A	8	41794987	41794987	C	A	KAT6A	c.3139G>T	NM_006766.5	NP_006757.2:p.(Glu1047Ter)	NC_000008.10:g.41794987C>A	(Likely) pathogenic	1 lab	1368e55c06
2:48010492 MSH6 C>G	2	48010492	48010492	C	G	MSH6	c.120C>G	NM_000179.2	NP_000170.1:p.(Ala40=)	NC_000002.11:g.48010492C>G	(Likely) benign	1 lab	13692080fa
11:118352451 KMT2A A>G	11	118352451	118352451	A	G	KMT2A				NC_000011.9:g.118352451A>G	VUS	1 lab	136a97930e
4:79403682 FRAS1 C>T	4	79403682	79403682	C	T	FRAS1	c.8745C>T	NM_025074.7	NP_079350.5:p.(Phe2915=)	NC_000004.11:g.79403682C>T	(Likely) benign	1 lab	010d91dcf7
9:130438082 STXBP1 G>A	9	130438082	130438082	G	A	STXBP1				NC_000009.11:g.130438082G>A	(Likely) pathogenic	1 lab	13f0ee293f
11:68080183 LRP5 A>T	11	68080183	68080183	A	T	LRP5	c.1A>T	NM_002335.4	NP_002326.2:p.(Met1?)	NC_000011.9:g.68080183A>T	(Likely) pathogenic	1 lab	136ca872d6
9:98279067 PTCH1 C>CA	9	98279067	98279068	C	CA	PTCH1	c.-315dup	NM_001083602.1	NP_001077071.1:p.?	NC_000009.11:g.98279068dup	VUS	1 lab	9515e68c20
2:136872702 CXCR4 G>A	2	136872702	136872702	G	A	CXCR4	c.751C>T	NM_001348060.2	NP_001334989.1:p.(Leu251Phe)	NC_000002.11:g.136872702G>A	(Likely) benign	1 lab	010fb5a930
5:90106222 ADGRV1 G>A	5	90106222	90106222	G	A	ADGRV1	c.15145G>A	NM_032119.3	NP_115495.3:p.(Ala5049Thr)	NC_000005.9:g.90106222G>A	VUS	1 lab	1375a858b2
8:33369994 TTI2 A>G	8	33369994	33369994	A	G	TTI2	c.138T>C	NM_001265581.1	NP_001252510.1:p.(Asn46=)	NC_000008.10:g.33369994A>G	(Likely) benign	1 lab	1375d25770
16:20359630 UMOD C>A	16	20359630	20359630	C	A	UMOD	c.888G>T	NM_003361.3	NP_003352.2:p.(Thr296=)	NC_000016.9:g.20359630C>A	(Likely) benign	1 lab	01124bb82a
9:14846122 FREM1 C>G	9	14846122	14846122	C	G	FREM1	c.1262-33G>C	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14846122C>G	(Likely) benign	1 lab	0114aa5461
10:26285485 MYO3A G>A	10	26285485	26285485	G	A	MYO3A				NC_000010.10:g.26285485G>A	VUS	1 lab	13809796a0
7:147183081 CNTNAP2 C>T	7	147183081	147183081	C	T	CNTNAP2	c.1725C>T	NM_014141.6	NP_054860.1:p.(Ser575=)	NC_000007.13:g.147183081C>T	(Likely) benign	1 lab	0115977f37
12:80890325 MISSING T>TG	12	80890325	80890326	T	TG	MISSING				NC_000012.11:g.80890325_80890326insG	(Likely) benign	1 lab	138a35ecf7
16:86601124 FOXC2 C>T	16	86601124	86601124	C	T	FOXC2	c.183C>T	NM_005251.3	NP_005242.1:p.(His61=)	NC_000016.9:g.86601124C>T	(Likely) benign	1 lab	01167e174f
3:151161572 IGSF10 G>C	3	151161572	151161572	G	C	IGSF10	c.5163C>G	NM_178822.5	NP_849144.2:p.(Tyr1721Ter)	NC_000003.11:g.151161572G>C	(Likely) pathogenic	1 lab	138bb37b50
11:68125219 LRP5 C>G	11	68125219	68125219	C	G	LRP5	c.590C>G	NM_002335.4	NP_002326.2:p.(Pro197Arg)	NC_000011.9:g.68125219C>G	VUS	1 lab	138c59c9da
17:41215322 BRCA1 T>G	17	41215322	41215322	T	G	BRCA1	c.5193+28A>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215322T>G	(Likely) benign	1 lab	1391cefd86
17:44108991 KANSL1 G>A	17	44108991	44108991	G	A	KANSL1	c.3169C>T	NM_001193466.1	NP_001180395.1:p.(Gln1057Ter)	NC_000017.10:g.44108991G>A	(Likely) benign	1 lab	1395ce6f28
2:48059929 FBXO11 TAC>T	2	48059929	48059932	TAC	T	FBXO11	c.1130_1131del	NM_001190274.2	NP_001177203.1:p.(Cys377TyrfsTer15)	NC_000002.11:g.48059931_48059932del	(Likely) pathogenic	1 lab	1397cb3364
18:53018135 TCF4 G>A	18	53018135	53018135	G	A	TCF4	c.469C>T	NM_001083962.1	NP_001077431.1:p.(Arg157Ter)	NC_000018.9:g.53018135G>A	(Likely) pathogenic	1 lab	1398fefc4e
12:11905460 ETV6 T>A	12	11905460	11905460	T	A	ETV6	c.110T>A	NM_001987.4	NP_001978.1:p.(Val37Glu)	NC_000012.11:g.11905460T>A	VUS	1 lab	139a391b85
9:131360688 SPTAN1 G>T	9	131360688	131360688	G	T	SPTAN1	c.3424G>T	NM_001130438.2	NP_001123910.1:p.(Ala1142Ser)	NC_000009.11:g.131360688G>T	VUS	1 lab	139f303dca
3:37092067 MLH1 A>T	3	37092067	37092067	A	T	MLH1	c.2194A>T	NM_000249.3	NP_000240.1:p.(Lys732Ter)	NC_000003.11:g.37092067A>T	(Likely) pathogenic	1 lab	13a3b0a936
1:200558377 KIF14 G>A	1	200558377	200558377	G	A	KIF14	c.3082C>T	NM_014875.2	NP_055690.1:p.(Arg1028Ter)	NC_000001.10:g.200558377G>A	(Likely) pathogenic	1 lab	13a488a0c9
17:48692747 CACNA1G C>T	17	48692747	48692747	C	T	CACNA1G	c.4785C>T	NM_018896.5	NP_061496.2:p.(Ser1595=)	NC_000017.10:g.48692747C>T	(Likely) benign	1 lab	0119d011d5
17:59821870 BRIP1 G>A	17	59821870	59821870	G	A	BRIP1	c.2180C>T	NM_032043.3	NP_114432.2:p.(Pro727Leu)	NC_000017.10:g.59821870G>A	VUS	1 lab	13a8d2bd5f
22:38121040 TRIOBP C>T	22	38121040	38121040	C	T	TRIOBP	c.2477C>T	NM_001039141.2	NP_001034230.1:p.(Ser826Leu)	NC_000022.10:g.38121040C>T	(Likely) benign	1 lab	13a8d7c275
17:48265343 COL1A1 C>T	17	48265343	48265343	C	T	COL1A1	c.3263G>A	NM_000088.3	NP_000079.2:p.(Gly1088Glu)	NC_000017.10:g.48265343C>T	(Likely) pathogenic	1 lab	13ad82c68e
1:94466474 ABCA4 A>G	1	94466474	94466474	A	G	ABCA4	c.6397T>C	NM_000350.2	NP_000341.2:p.(Cys2133Arg)	NC_000001.10:g.94466474A>G	VUS	1 lab	13af2d0d2c
1:196871734 CFHR4 T>C	1	196871734	196871734	T	C	CFHR4	c.245T>C	NM_001201550.2	NP_001188479.1:p.(Val82Ala)	NC_000001.10:g.196871734T>C	(Likely) benign	1 lab	13b48653a3
11:47360222 MYBPC3 A>C	11	47360222	47360222	A	C	MYBPC3	c.2157T>G	NM_000256.3	NP_000247.2:p.(Cys719Trp)	NC_000011.9:g.47360222A>C	VUS	1 lab	13b4afd5c0
1:196706112 CFH T>A	1	196706112	196706112	T	A	CFH	c.2572T>A	NM_000186.3	NP_000177.2:p.(Trp858Arg)	NC_000001.10:g.196706112T>A	(Likely) pathogenic	1 lab	13bd328dbe
13:110804682 COL4A1 T>C	13	110804682	110804682	T	C	COL4A1	c.4927A>G	NM_001845.6	NP_001836.3:p.(Lys1643Glu)	NC_000013.10:g.110804682T>C	VUS	1 lab	13bd64de30
15:73615152 HCN4 A>G	15	73615152	73615152	A	G	HCN4	c.3282T>C	NM_005477.2	NP_005468.1:p.(Pro1094=)	NC_000015.9:g.73615152A>G	(Likely) benign	1 lab	13bf5dcb71
6:42946509 PEX6 C>T	6	42946509	42946509	C	T	PEX6	c.380G>A	NM_000287.4	NP_000278.3:p.(Arg127His)	NC_000006.11:g.42946509C>T	VUS	1 lab	13c197db9e
1:201063146 CACNA1S T>C	1	201063146	201063146	T	C	CACNA1S	c.262A>G	NM_000069.2	NP_000060.2:p.(Lys88Glu)	NC_000001.10:g.201063146T>C	(Likely) benign	1 lab	13c19f5684
19:6707072 C3 C>T	19	6707072	6707072	C	T	C3	c.2245+15G>A	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6707072C>T	VUS	1 lab	13feb04906
19:54310807 NLRP12 C>G	19	54310807	54310807	C	G	NLRP12	c.2185G>C	NM_144687.4	NP_653288.1:p.(Gly729Arg)	NC_000019.9:g.54310807C>G	VUS	1 lab	13c5cf779a
21:35821925 KCNE1 A>G	21	35821925	35821925	A	G	KCNE1	c.8T>C	NM_000219.5	NP_000210.2:p.(Leu3Pro)	NC_000021.8:g.35821925A>G	(Likely) benign	1 lab	13c6f96f39
19:46032553 OPA3 A>G	19	46032553	46032553	A	G	OPA3	c.304T>C	NM_001017989.2	NP_001017989.2:p.(Trp102Arg)	NC_000019.9:g.46032553A>G	VUS	1 lab	953e882e60
10:78704743 KCNMA1 A>G	10	78704743	78704743	A	G	KCNMA1	c.2548-20T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78704743A>G	(Likely) benign	1 lab	011d405064
2:210782507 UNC80 T>C	2	210782507	210782507	T	C	UNC80	c.4838T>C	NM_032504.1	NP_115893.1:p.(Met1613Thr)	NC_000002.11:g.210782507T>C	VUS	1 lab	13cb80cfe4
5:112175198 APC C>T	5	112175198	112175198	C	T	APC	c.3907C>T	NM_000038.5	NP_000029.2:p.(Gln1303Ter)	NC_000005.9:g.112175198C>T	(Likely) pathogenic	1 lab	13d0174374
2:47702269 MSH2 C>G	2	47702269	47702269	C	G	MSH2	c.1865C>G	NM_000251.2	NP_000242.1:p.(Pro622Arg)	NC_000002.11:g.47702269C>G	(Likely) pathogenic	1 lab	13d2710afa
3:37059184 MLH1 C>T	3	37059184	37059184	C	T	MLH1	c.884+94C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37059184C>T	VUS	1 lab	150093a9a3
1:67486119 SLC35D1 A>C	1	67486119	67486119	A	C	SLC35D1	c.809T>G	NM_015139.2	NP_055954.1:p.(Met270Arg)	NC_000001.10:g.67486119A>C	VUS	1 lab	13dad45848
5:112154722 APC G>A	5	112154722	112154722	G	A	APC	c.993G>A	NM_001127510.2	NP_001120982.1:p.(Ser331=)	NC_000005.9:g.112154722G>A	VUS	1 lab	13dce78533
9:131371405 SPTAN1 C>T	9	131371405	131371405	C	T	SPTAN1	c.4600C>T	NM_001130438.3	NP_001123910.1:p.(Arg1534Ter)	NC_000009.11:g.131371405C>T	(Likely) pathogenic	1 lab	13e304a96c
3:140281723 CLSTN2 C>T	3	140281723	140281723	C	T	CLSTN2	c.2283C>T	NM_022131.2	NP_071414.2:p.(Ser761=)	NC_000003.11:g.140281723C>T	(Likely) benign	1 lab	13ecc6aa0c
11:76853824 MYO7A C>A	11	76853824	76853824	C	A	MYO7A	c.88C>A	NM_000260.3	NP_000251.3:p.(Leu30Ile)	NC_000011.9:g.76853824C>A	VUS	1 lab	13ee8fe82c
4:6302459 WFS1 C>T	4	6302459	6302459	C	T	WFS1				NC_000004.11:g.6302459C>T	(Likely) pathogenic	1 lab	13eeffe1f1
17:7788367 CHD3 A>ACCC	17	7788367	7788370	A	ACCC	CHD3	c.245_246insCCC	NM_001005271.2	NP_001005271.2:p.(Pro82dup)	NC_000017.10:g.7788369_7788370insCCC	VUS	1 lab	95be944f92
12:89918903 POC1B G>A	12	89918903	89918903	G	A	POC1B	c.94C>T	NM_172240.2	NP_758440.1:p.(Gln32Ter)	NC_000012.11:g.89918903G>A	(Likely) pathogenic	1 lab	13f016d5ae
2:223423472 SGPP2 C>G	2	223423472	223423472	C	G	SGPP2	c.1055C>G	NM_152386.2	NP_689599.2:p.(Ser352Ter)	NC_000002.11:g.223423472C>G	VUS	1 lab	13f272f32b
16:89617008 SPG7 C>T	16	89617008	89617008	C	T	SPG7	c.1770C>T	NM_003119.2	NP_003110.1:p.(Ala590=)	NC_000016.9:g.89617008C>T	(Likely) benign	1 lab	13f3a5e956
3:195795013 TFRC C>A	3	195795013	195795013	C	A	TFRC	c.802-12G>T	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195795013C>A	(Likely) benign	1 lab	011f706019
22:33254009 TIMP3 G>A	22	33254009	33254009	G	A	TIMP3	c.322G>A	NM_000362.5	NP_000353.1:p.(Val108Ile)	NC_000022.10:g.33254009G>A	VUS	1 lab	13f97ff0d5
2:179580491 TTN C>G	2	179580491	179580491	C	G	TTN	c.25650G>C	NM_001267550.2	NP_001254479.2:p.(Arg8550Ser)	NC_000002.11:g.179580491C>G	VUS	1 lab	13f9db8280
14:23892914 MYH7 C>T	14	23892914	23892914	C	T	MYH7	c.2941G>A	NM_000257.2	NP_000248.2:p.(Glu981Lys)	NC_000014.8:g.23892914C>T	VUS	1 lab	13f9e2fe74
2:48033634 MSH6 CTATTACGTTCCTCTA>C	2	48033634	48033651	CTATTACGTTCCTCTA	C	MSH6	c.3848_3862del	NM_000179.3	NP_000170.1:p.(Ile1283_Tyr1287del)	NC_000002.11:g.48033637_48033651del	(Likely) pathogenic	1 lab	140331a2ab
6:32006597 CYP21A2 C>T	6	32006597	32006597	C	T	CYP21A2				NC_000006.11:g.32006597C>T	(Likely) benign	1 lab	179043536a
11:2170382 IGF2 C>T	11	2170382	2170382	C	T	IGF2	c.-275G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170382C>T	(Likely) benign	1 lab	95f72034ce
17:33433508 RAD51D G>T	17	33433508	33433508	G	T	RAD51D	c.481-8C>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33433508G>T	VUS	1 lab	1403a8bd77
1:152285370 FLG G>T	1	152285370	152285370	G	T	FLG				NC_000001.10:g.152285370G>T	(Likely) benign	1 lab	140785488d
2:179444890 TTN C>G	2	179444890	179444890	C	G	TTN	c.67124G>C	NM_001267550.1	NP_001254479.1:p.(Trp22375Ser)	NC_000002.11:g.179444890C>G	VUS	1 lab	140ac1d903
12:23699245 SOX5 C>T	12	23699245	23699245	C	T	SOX5	c.1597+5G>A	NM_006940.4	NP_008871.3:p.?	NC_000012.11:g.23699245C>T	(Likely) pathogenic	1 lab	140b5a7a7b
19:10488968 TYK2 C>T	19	10488968	10488968	C	T	TYK2	c.115G>A	NM_003331.4	NP_003322.3:p.(Gly39Ser)	NC_000019.9:g.10488968C>T	(Likely) benign	1 lab	0121265aa4
18:29100816 DSG2 C>T	18	29100816	29100816	C	T	DSG2	c.267C>T	NM_001943.5	NP_001934.2:p.(Tyr89=)	NC_000018.9:g.29100816C>T	(Likely) benign	1 lab	140be6d526
12:6232382 VWF G>A	12	6232382	6232382	G	A	VWF	c.1-20C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6232382G>A	(Likely) benign	1 lab	140dcd2589
10:95987180 PLCE1 G>A	10	95987180	95987180	G	A	PLCE1	c.1927G>A	NM_016341.4	NP_057425.3:p.(Ala643Thr)	NC_000010.10:g.95987180G>A	VUS	1 lab	141313a9cd
12:116412974 MED13L A>G	12	116412974	116412974	A	G	MED13L	c.5731+2T>C	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116412974A>G	(Likely) pathogenic	1 lab	141334f44a
2:31758741 MISSING T>C	2	31758741	31758741	T	C	MISSING				NC_000002.11:g.31758741T>C	(Likely) pathogenic	1 lab	1416ee8942
6:158540060 SERAC1 C>T	6	158540060	158540060	C	T	SERAC1	c.1308+1G>A	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158540060C>T	(Likely) pathogenic	1 lab	1417b6f66b
4:147431202 MISSING C>T	4	147431202	147431202	C	T	MISSING				NC_000004.11:g.147431202C>T	(Likely) pathogenic	1 lab	1417e204e0
13:32889811 BRCA2 G>T	13	32889811	32889811	G	T	BRCA2	c.-40+7G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889811G>T	(Likely) benign	1 lab	141c26a29d
22:29095919 CHEK2 T>G	22	29095919	29095919	T	G	CHEK2	c.915A>C	NM_007194.3	NP_009125.1:p.(Glu305Asp)	NC_000022.10:g.29095919T>G	VUS	1 lab	141d1fac56
17:42937414 EFTUD2 C>T	17	42937414	42937414	C	T	EFTUD2				NC_000017.10:g.42937414C>T	(Likely) pathogenic	1 lab	141ddc2fd2
17:7577093 TP53 C>T	17	7577093	7577093	C	T	TP53	c.845G>A	NM_000546.6	NP_000537.3:p.(Arg282Gln)	NC_000017.10:g.7577093C>T	(Likely) pathogenic	1 lab	141ecab9fb
19:55435140 NLRP7 T>C	19	55435140	55435140	T	C	NLRP7	c.3082A>G	NM_001127255.1	NP_001120727.1:p.(Thr1028Ala)	NC_000019.9:g.55435140T>C	(Likely) benign	1 lab	0128971c6e
2:179426723 TTN CTG>C	2	179426723	179426726	CTG	C	TTN	c.84134_84135del	NM_001267550.2	NP_001254479.2:p.(Thr28045SerfsTer9)	NC_000002.11:g.179426725_179426726del	(Likely) pathogenic	1 lab	1420e8affd
17:62019255 SCN4A G>A	17	62019255	62019255	G	A	SCN4A	c.4387C>T	NM_000334.4	NP_000325.4:p.(Arg1463Cys)	NC_000017.10:g.62019255G>A	VUS	1 lab	14214f67f9
7:100404173 EPHB4 G>A	7	100404173	100404173	G	A	EPHB4	c.2353C>T	NM_004444.5	NP_004435.3:p.(Arg785Ter)	NC_000007.13:g.100404173G>A	(Likely) pathogenic	1 lab	142bcbeb6e
17:42449776 ITGA2B G>A	17	42449776	42449776	G	A	ITGA2B	c.3076C>T	NM_000419.3	NP_000410.2:p.(Arg1026Trp)	NC_000017.10:g.42449776G>A	(Likely) pathogenic	1 lab	142eb7f618
2:133075154 ZNF285CP C>A	2	133075154	133075154	C	A	ZNF285CP	c.143-2587C>A	NM_001355461.1	NP_001342390.1:p.?	NC_000002.11:g.133075154C>A	VUS	1 lab	972b8025d1
2:215645947 BARD1 T>C	2	215645947	215645947	T	C	BARD1	c.651A>G	NM_000465.4	NP_000456.2:p.(Lys217=)	NC_000002.11:g.215645947T>C	(Likely) benign	1 lab	1431fc9fa7
17:48677129 CACNA1G A>G	17	48677129	48677129	A	G	CACNA1G	c.3599A>G	NM_018896.5	NP_061496.2:p.(Asn1200Ser)	NC_000017.10:g.48677129A>G	VUS	1 lab	1432edd2bf
20:42744507 JPH2 G>A	20	42744507	42744507	G	A	JPH2	c.1808C>T	NM_020433.5	NP_065166.2:p.(Pro603Leu)	NC_000020.10:g.42744507G>A	(Likely) benign	1 lab	1433bb1320
19:54677907 MBOAT7 A>G	19	54677907	54677907	A	G	MBOAT7	c.1250T>C	NM_024298.4	NP_077274.3:p.(Leu417Pro)	NC_000019.9:g.54677907A>G	VUS	1 lab	1433c92b3b
7:40027673 CDK13 AT>A	7	40027673	40027674	AT	A	CDK13	c.1688del	NM_003718.4	NP_003709.3:p.(Ile563LysfsTer29)	NC_000007.13:g.40027674del	(Likely) pathogenic	1 lab	14343ce002
1:201333507 TNNT2 A>C	1	201333507	201333507	A	C	TNNT2	c.382-4T>G	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201333507A>C	(Likely) benign	1 lab	012f9d6d0e
3:37092103 MLH1 G>A	3	37092103	37092103	G	A	MLH1	c.2230G>A	NM_000249.3	NP_000240.1:p.(Ala744Thr)	NC_000003.11:g.37092103G>A	VUS	1 lab	143542941b
18:19433086 MIB1 CCT>C	18	19433086	19433090	CCT	C	MIB1	c.2587-12_2587-11del	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19433089_19433090del	(Likely) benign	1 lab	143a13b71e
X:110576282 DCX T>G	X	110576282	110576282	T	G	DCX	c.805A>C	NM_001195553.2	NP_001182482.1:p.(Asn269His)	NC_000023.10:g.110576282T>G	VUS	1 lab	143a3d5098
5:90000210 ADGRV1 C>T	5	90000210	90000210	C	T	ADGRV1	c.8291C>T	NM_032119.3	NP_115495.3:p.(Ser2764Leu)	NC_000005.9:g.90000210C>T	(Likely) benign	1 lab	143d2d0ece
6:112575219 LAMA4 TG>T	6	112575219	112575220	TG	T	LAMA4	c.133del	NM_001105206.3	NP_001098676.2:p.(Gln45LysfsTer153)	NC_000006.11:g.112575220del	VUS	1 lab	143f51e26a
15:78911017 CHRNA3 T>C	15	78911017	78911017	T	C	CHRNA3	c.223-14A>G	NM_000743.5	NP_000734.2:p.?	NC_000015.9:g.78911017T>C	(Likely) benign	1 lab	01317dd630
5:140956427 DIAPH1 T>C	5	140956427	140956427	T	C	DIAPH1	c.1292A>G	NM_005219.4	NP_005210.3:p.(Tyr431Cys)	NC_000005.9:g.140956427T>C	(Likely) benign	1 lab	14430d1f3a
12:6128400 VWF C>T	12	6128400	6128400	C	T	VWF	c.4184G>A	NM_000552.3	NP_000543.2:p.(Arg1395Gln)	NC_000012.11:g.6128400C>T	VUS	1 lab	1445c76b81
13:101735211 NALCN G>A	13	101735211	101735211	G	A	NALCN	c.3714C>T	NM_052867.3	NP_443099.1:p.(Thr1238=)	NC_000013.10:g.101735211G>A	(Likely) benign	1 lab	144620ef50
17:62041872 SCN4A G>A	17	62041872	62041872	G	A	SCN4A	c.1408C>T	NM_000334.4	NP_000325.4:p.(Gln470Ter)	NC_000017.10:g.62041872G>A	(Likely) pathogenic	1 lab	1449331743
6:35467808 TULP1 C>T	6	35467808	35467808	C	T	TULP1	c.1445G>A	NM_003322.4	NP_003313.3:p.(Arg482Gln)	NC_000006.11:g.35467808C>T	(Likely) pathogenic	1 lab	144c594386
19:13323281 CACNA1A G>A	19	13323281	13323281	G	A	CACNA1A	c.6124C>T	NM_023035.2	NP_075461.2:p.(Gln2042Ter)	NC_000019.9:g.13323281G>A	(Likely) pathogenic	1 lab	1453a08c79
17:42990725 GFAP A>T	17	42990725	42990725	A	T	GFAP	c.692T>A	NM_002055.5	NP_002046.1:p.(Leu231His)	NC_000017.10:g.42990725A>T	VUS	1 lab	14549d59d1
1:216166445 USH2A G>A	1	216166445	216166445	G	A	USH2A				NC_000001.10:g.216166445G>A	(Likely) pathogenic	1 lab	1454ea5788
3:38936218 SCN11A T>C	3	38936218	38936218	T	C	SCN11A	c.2641A>G	NM_014139.2	NP_054858.2:p.(Ile881Val)	NC_000003.11:g.38936218T>C	(Likely) benign	1 lab	1456935331
9:136440144 ADAMTSL2 G>A	9	136440144	136440144	G	A	ADAMTSL2	c.*158G>A	NM_014694.3	NP_055509.2:p.?	NC_000009.11:g.136440144G>A	(Likely) benign	1 lab	1458170a97
4:6304285 WFS1 G>A	4	6304285	6304285	G	A	WFS1	c.*90G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6304285G>A	(Likely) benign	1 lab	14584efa89
19:920708 KISS1R G>C	19	920708	920708	G	C	KISS1R	c.1157G>C	NM_032551.5	NP_115940.2:p.(Arg386Pro)	NC_000019.9:g.920708G>C	VUS	1 lab	17ee4e0576
X:9728744 GPR143 G>C	X	9728744	9728744	G	C	GPR143	c.360+13C>G	NM_000273.3	NP_000264.2:p.?	NC_000023.10:g.9728744G>C	(Likely) benign	1 lab	6465b185da
16:31475985 ARMC5 G>A	16	31475985	31475985	G	A	ARMC5	c.1641G>A	NM_001105247.2	NP_001098717.1:p.(Ala547=)	NC_000016.9:g.31475985G>A	(Likely) benign	1 lab	145a36531f
11:47353748 MYBPC3 A>C	11	47353748	47353748	A	C	MYBPC3	c.3689T>G	NM_000256.3	NP_000247.2:p.(Phe1230Cys)	NC_000011.9:g.47353748A>C	VUS	1 lab	145c478ae8
22:51159471 SHANK3 GC>G	22	51159471	51159474	GC	G	SHANK3	c.3438del	NM_001372044.2	NP_001358973.1:p.(Ser1147ProfsTer6)	NC_000022.10:g.51159474del	(Likely) pathogenic	1 lab	1460ea57cc
5:112177237 APC AG>A	5	112177237	112177238	AG	A	APC	c.5947del	NM_000038.6	NP_000029.2:p.(Glu1983LysfsTer61)	NC_000005.9:g.112177238del	(Likely) pathogenic	1 lab	14653a7ba7
19:45211328 CEACAM16 G>A	19	45211328	45211328	G	A	CEACAM16				NC_000019.9:g.45211328G>A	VUS	1 lab	14667a05e6
7:75695674 MDH2 C>T	7	75695674	75695674	C	T	MDH2	c.963C>T	NM_005918.3	NP_005909.2:p.(Pro321=)	NC_000007.13:g.75695674C>T	(Likely) benign	1 lab	146995929a
14:51080020 ATL1 T>C	14	51080020	51080020	T	C	ATL1	c.674T>C	NM_015915.4	NP_056999.2:p.(Phe225Ser)	NC_000014.8:g.51080020T>C	(Likely) pathogenic	1 lab	146d181878
10:73437412 CDH23 G>A	10	73437412	73437412	G	A	CDH23	c.1714G>A	NM_022124.5	NP_071407.4:p.(Glu572Lys)	NC_000010.10:g.73437412G>A	VUS	1 lab	146e492c7f
5:73985121 HEXB C>T	5	73985121	73985121	C	T	HEXB	c.300-32C>T	NM_000521.3	NP_000512.1:p.?	NC_000005.9:g.73985121C>T	(Likely) benign	1 lab	0135aa23ae
14:23903430 MYH7 G>A	14	23903430	23903430	G	A	MYH7	c.-36C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23903430G>A	(Likely) benign	1 lab	146fcedbc0
1:152280573 FLG C>A	1	152280573	152280573	C	A	FLG	c.6789G>T	NM_002016.1	NP_002007.1:p.(Ala2263=)	NC_000001.10:g.152280573C>A	(Likely) benign	1 lab	14733ee786
5:112111357 APC G>T	5	112111357	112111357	G	T	APC	c.454G>T	NM_000038.6	NP_000029.2:p.(Glu152Ter)	NC_000005.9:g.112111357G>T	(Likely) pathogenic	1 lab	1474817931
19:50792876 MYH14 G>A	19	50792876	50792876	G	A	MYH14	c.4936G>A	NM_001145809.2	NP_001139281.1:p.(Glu1646Lys)	NC_000019.9:g.50792876G>A	(Likely) benign	1 lab	147f780cd0
2:10977682 PDIA6 T>C	2	10977682	10977682	T	C	PDIA6	c.50A>G	NM_001282705.1	NP_001269634.1:p.(Glu17Gly)	NC_000002.11:g.10977682T>C	VUS	1 lab	98937b76f6
19:14211648 PRKACA C>T	19	14211648	14211648	C	T	PRKACA	c.409G>A	NM_002730.4	NP_002721.1:p.(Gly137Arg)	NC_000019.9:g.14211648C>T	(Likely) pathogenic	1 lab	148497e729
16:67469733 HSD11B2 C>A	16	67469733	67469733	C	A	HSD11B2	c.468C>A	NM_000196.3	NP_000187.3:p.(Thr156=)	NC_000016.9:g.67469733C>A	(Likely) benign	1 lab	1485cd7ff2
X:152747840 HAUS7 C>T	X	152747840	152747840	C	T	HAUS7	c.-588-11237G>A	NM_001385483.1	NP_001372412.1:p.?	NC_000023.10:g.152747840C>T	(Likely) benign	1 lab	98da269edf
9:33794811 PRSS3 G>A	9	33794811	33794811	G	A	PRSS3	c.22G>A	NM_001197097.2	NP_001184026.2:p.(Gly8Ser)	NC_000009.11:g.33794811G>A	VUS	1 lab	99385afb93
3:48630664 COL7A1 G>A	3	48630664	48630664	G	A	COL7A1	c.553C>T	NM_000094.3	NP_000085.1:p.(Arg185Ter)	NC_000003.11:g.48630664G>A	(Likely) pathogenic	1 lab	148bafaa77
2:232135728 ARMC9 G>A	2	232135728	232135728	G	A	ARMC9	c.1153G>A	NM_025139.6	NP_079415.4:p.(Asp385Asn)	NC_000002.11:g.232135728G>A	(Likely) benign	1 lab	01377d2d52
11:108175563 ATM T>C	11	108175563	108175563	T	C	ATM	c.5658T>C	NM_000051.4	NP_000042.3:p.(Pro1886=)	NC_000011.9:g.108175563T>C	(Likely) benign	1 lab	148f5de245
22:29130717 CHEK2 T>C	22	29130717	29130717	T	C	CHEK2	c.-6-2A>G	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29130717T>C	(Likely) pathogenic	1 lab	1490006dbe
15:31221484 FAN1 C>G	15	31221484	31221484	C	G	FAN1	c.2671C>G	NM_014967.4	NP_055782.3:p.(His891Asp)	NC_000015.9:g.31221484C>G	VUS	1 lab	1497272479
5:137219114 MYOT T>G	5	137219114	137219114	T	G	MYOT	c.858T>G	NM_006790.2	NP_006781.1:p.(Asn286Lys)	NC_000005.9:g.137219114T>G	VUS	1 lab	1498388614
14:99641207 BCL11B CCCCGCGCCCGTTGACCGCGCCGCCCGCG>C	14	99641207	99641241	CCCCGCGCCCGTTGACCGCGCCGCCCGCG	C	BCL11B	c.1938_1965del	NM_138576.4	NP_612808.1:p.(Gly648AlafsTer66)	NC_000014.8:g.99641214_99641241del	(Likely) pathogenic	1 lab	149ab1209a
1:156108585 LMNA C>T	1	156108585	156108585	C	T	LMNA	c.1968+37C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156108585C>T	(Likely) benign	1 lab	149c892c0a
14:68257485 ZFYVE26 C>T	14	68257485	68257485	C	T	ZFYVE26	c.2559G>A	NM_015346.3	NP_056161.2:p.(Leu853=)	NC_000014.8:g.68257485C>T	(Likely) benign	1 lab	149cbda7ba
11:2169055 IGF2 G>C	11	2169055	2169055	G	C	IGF2	c.-248-18C>G	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2169055G>C	(Likely) benign	1 lab	997c516685
10:18828188 CACNB2 C>T	10	18828188	18828188	C	T	CACNB2	c.1353C>T	NM_000724.4	NP_000715.2:p.(Arg451=)	NC_000010.10:g.18828188C>T	(Likely) benign	1 lab	013a6b5998
10:121436217 BAG3 C>T	10	121436217	121436217	C	T	BAG3	c.1151C>T	NM_004281.3	NP_004272.2:p.(Pro384Leu)	NC_000010.10:g.121436217C>T	(Likely) benign	1 lab	14a6efe755
4:15569105 CC2D2A G>C	4	15569105	15569105	G	C	CC2D2A				NC_000004.11:g.15569105G>C	VUS	1 lab	1b72a01ff0
17:48266269 COL1A1 G>A	17	48266269	48266269	G	A	COL1A1	c.3040C>T	NM_000088.4	NP_000079.2:p.(Arg1014Cys)	NC_000017.10:g.48266269G>A	(Likely) pathogenic	1 lab	14a8973400
1:201341171 TNNT2 T>C	1	201341171	201341171	T	C	TNNT2	c.53-2A>G	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201341171T>C	(Likely) benign	1 lab	14a8cd2224
3:38639228 SCN5A C>T	3	38639228	38639228	C	T	SCN5A	c.2254G>A	NM_000335.5	NP_000326.2:p.(Gly752Arg)	NC_000003.11:g.38639228C>T	(Likely) pathogenic	1 lab	14aa7826b5
12:111358266 MYL2 C>T	12	111358266	111358266	C	T	MYL2	c.3+65G>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111358266C>T	(Likely) benign	1 lab	14ae1d5c0d
12:9004806 A2ML1 G>A	12	9004806	9004806	G	A	A2ML1	c.2464G>A	NM_144670.4	NP_653271.2:p.(Val822Ile)	NC_000012.11:g.9004806G>A	(Likely) benign	1 lab	14b2342350
11:118047094 SCN2B C>T	11	118047094	118047094	C	T	SCN2B	c.53G>A	NM_004588.5	NP_004579.1:p.(Ser18Asn)	NC_000011.9:g.118047094C>T	(Likely) benign	1 lab	14b437e56e
12:13722865 GRIN2B C>T	12	13722865	13722865	C	T	GRIN2B	c.2258G>A	NM_000834.3	NP_000825.2:p.(Ser753Asn)	NC_000012.11:g.13722865C>T	(Likely) pathogenic	1 lab	14b8535982
2:165986612 SCN3A C>T	2	165986612	165986612	C	T	SCN3A	c.2760G>A	NM_006922.4	NP_008853.3:p.(Thr920=)	NC_000002.11:g.165986612C>T	(Likely) benign	1 lab	14b86e1598
18:47109934 LIPG G>A	18	47109934	47109934	G	A	LIPG	c.1166G>A	NM_006033.4	NP_006024.1:p.(Arg389Gln)	NC_000018.9:g.47109934G>A	VUS	1 lab	00c081eb11
2:167141262 SCN9A C>T	2	167141262	167141262	C	T	SCN9A	c.1675G>A	NM_001365536.1	NP_001352465.1:p.(Gly559Ser)	NC_000002.11:g.167141262C>T	(Likely) benign	1 lab	14b9966d23
17:7578262 TP53 C>G	17	7578262	7578262	C	G	TP53	c.587G>C	NM_000546.5	NP_000537.3:p.(Arg196Pro)	NC_000017.10:g.7578262C>G	(Likely) pathogenic	1 lab	14bcec930d
10:69926210 MYPN A>G	10	69926210	69926210	A	G	MYPN				NC_000010.10:g.69926210A>G	VUS	1 lab	14bdec24eb
7:150647101 KCNH2 G>T	7	150647101	150647101	G	T	KCNH2	c.2398+155C>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150647101G>T	(Likely) benign	1 lab	14bfb0979e
X:153588937 FLNA C>A	X	153588937	153588937	C	A	FLNA	c.3226G>T	NM_001110556.2	NP_001104026.1:p.(Gly1076Trp)	NC_000023.10:g.153588937C>A	(Likely) pathogenic	1 lab	14c41e56f9
12:6153482 VWF G>A	12	6153482	6153482	G	A	VWF	c.2417C>T	NM_000552.3	NP_000543.2:p.(Ser806Phe)	NC_000012.11:g.6153482G>A	VUS	1 lab	14c6c7f38a
X:41437676 CASK C>A	X	41437676	41437676	C	A	CASK	c.1420G>T	NM_003688.3	NP_003679.2:p.(Glu474Ter)	NC_000023.10:g.41437676C>A	(Likely) pathogenic	1 lab	14c9f617aa
16:1842081 IGFALS A>G	16	1842081	1842081	A	G	IGFALS	c.338T>C	NM_004970.3	NP_004961.1:p.(Leu113Pro)	NC_000016.9:g.1842081A>G	VUS	1 lab	14cbb7b944
11:823527 PNPLA2 G>A	11	823527	823527	G	A	PNPLA2	c.697G>A	NM_020376.3	NP_065109.1:p.(Val233Met)	NC_000011.9:g.823527G>A	VUS	1 lab	14cf2d57c2
12:88483180 CEP290 T>TA	12	88483180	88483181	T	TA	CEP290	c.3657dup	NM_025114.3	NP_079390.3:p.(Lys1220Ter)	NC_000012.11:g.88483181dup	(Likely) pathogenic	1 lab	14cf2ee036
19:1221211 STK11 G>A	19	1221211	1221211	G	A	STK11	c.735-1G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1221211G>A	(Likely) pathogenic	1 lab	14cf9bef63
13:32900781 BRCA2 A>G	13	32900781	32900781	A	G	BRCA2	c.631+31A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900781A>G	(Likely) benign	1 lab	14d02bc4b9
15:89385095 ACAN G>T	15	89385095	89385095	G	T	ACAN	c.754G>T	NM_013227.4	NP_037359.3:p.(Glu252Ter)	NC_000015.9:g.89385095G>T	(Likely) pathogenic	1 lab	14d44c43f0
11:76873227 MYO7A G>A	11	76873227	76873227	G	A	MYO7A	c.1405G>A	NM_000260.3	NP_000251.3:p.(Val469Met)	NC_000011.9:g.76873227G>A	VUS	1 lab	14dc33f99f
1:237664086 RYR2 A>C	1	237664086	237664086	A	C	RYR2	c.2279A>C	NM_001035.3	NP_001026.2:p.(Asp760Ala)	NC_000001.10:g.237664086A>C	VUS	1 lab	013f46066d
10:73558128 CDH23 G>A	10	73558128	73558128	G	A	CDH23	c.6847G>A	NM_022124.5	NP_071407.4:p.(Val2283Ile)	NC_000010.10:g.73558128G>A	(Likely) benign	1 lab	14e1f60dc7
1:237957146 RYR2 G>A	1	237957146	237957146	G	A	RYR2	c.13783-21G>A	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237957146G>A	(Likely) benign	1 lab	14e3e6c552
7:47884634 PKD1L1 C>T	7	47884634	47884634	C	T	PKD1L1	c.5196G>A	NM_138295.4	NP_612152.1:p.(Leu1732=)	NC_000007.13:g.47884634C>T	(Likely) benign	1 lab	14e57126ff
19:38939326 RYR1 G>T	19	38939326	38939326	G	T	RYR1	c.995G>T	NM_000540.3	NP_000531.2:p.(Gly332Val)	NC_000019.9:g.38939326G>T	VUS	1 lab	14e6098242
2:9666240 ADAM17 T>A	2	9666240	9666240	T	A	ADAM17				NC_000002.11:g.9666240T>A	VUS	1 lab	14e61aaef9
9:98279088 PTCH1 AT>A	9	98279088	98279090	AT	A	PTCH1	c.-336del	NM_001083602.1	NP_001077071.1:p.?	NC_000009.11:g.98279090del	VUS	1 lab	99e90945fe
X:17744924 NHS C>T	X	17744924	17744924	C	T	NHS	c.2635C>T	NM_198270.3	NP_938011.1:p.(Arg879Ter)	NC_000023.10:g.17744924C>T	(Likely) pathogenic	1 lab	14e97fa6e0
8:145487205 BOP1 C>T	8	145487205	145487205	C	T	BOP1	c.1605+5G>A	NM_015201.3	NP_056016.1:p.?	NC_000008.10:g.145487205C>T	(Likely) benign	1 lab	9a0f404b84
3:33038825 GLB1 C>A	3	33038825	33038825	C	A	GLB1	c.1746G>T	NM_000404.2	NP_000395.2:p.(Trp582Cys)	NC_000003.11:g.33038825C>A	(Likely) pathogenic	1 lab	14f3f461e0
7:92762866 SAMD9L C>T	7	92762866	92762866	C	T	SAMD9L	c.2419G>A	NM_152703.5	NP_689916.2:p.(Glu807Lys)	NC_000007.13:g.92762866C>T	VUS	1 lab	14f4e14536
5:112174086 APC C>A	5	112174086	112174086	C	A	APC	c.2795C>A	NM_000038.6	NP_000029.2:p.(Ser932Ter)	NC_000005.9:g.112174086C>A	(Likely) pathogenic	1 lab	14f8d6c130
10:64219518 ZNF365 G>A	10	64219518	64219518	G	A	ZNF365	c.943G>A	NM_199450.2	NP_955522.1:p.(Glu315Lys)	NC_000010.10:g.64219518G>A	(Likely) benign	1 lab	9a43f02886
15:73615112 HCN4 A>C	15	73615112	73615112	A	C	HCN4	c.3322T>G	NM_005477.3	NP_005468.1:p.(Ser1108Ala)	NC_000015.9:g.73615112A>C	VUS	1 lab	14fde31c71
12:66219056 HMGA2 C>A	12	66219056	66219056	C	A	HMGA2				NC_000012.11:g.66219056C>A	VUS	1 lab	14fe24d2b7
11:108137926 ATM G>A	11	108137926	108137926	G	A	ATM	c.2495G>A	NM_000051.3	NP_000042.3:p.(Arg832His)	NC_000011.9:g.108137926G>A	(Likely) benign	1 lab	14fe3870a0
17:61497790 TANC2 C>T	17	61497790	61497790	C	T	TANC2	c.4447C>T	NM_025185.3	NP_079461.2:p.(Gln1483Ter)	NC_000017.10:g.61497790C>T	VUS	1 lab	1500eec882
1:94544944 ABCA4 C>G	1	94544944	94544944	C	G	ABCA4	c.1173G>C	NM_000350.3	NP_000341.2:p.(Lys391Asn)	NC_000001.10:g.94544944C>G	(Likely) benign	1 lab	1500f054b3
21:36164405 RUNX1 G>T	21	36164405	36164405	G	T	RUNX1	c.*27C>A	NM_001754.4	NP_001745.2:p.?	NC_000021.8:g.36164405G>T	(Likely) benign	1 lab	15021109dd
6:45399612 RUNX2 G>A	6	45399612	45399612	G	A	RUNX2	c.436G>A	NM_001024630.4	NP_001019801.3:p.(Gly146Arg)	NC_000006.11:g.45399612G>A	(Likely) pathogenic	1 lab	1502540b10
2:47708002 MSH2 G>T	2	47708002	47708002	G	T	MSH2	c.2626G>T	NM_000251.2	NP_000242.1:p.(Glu876Ter)	NC_000002.11:g.47708002G>T	(Likely) pathogenic	1 lab	15025aa7f9
1:27092946 ARID1A A>G	1	27092946	27092946	A	G	ARID1A	c.2879-2A>G	NM_006015.5	NP_006006.3:p.?	NC_000001.10:g.27092946A>G	(Likely) pathogenic	1 lab	1502ec09b1
1:183532443 NCF2 T>A	1	183532443	183532443	T	A	NCF2	c.1179-2A>T	NM_000433.4	NP_000424.2:p.?	NC_000001.10:g.183532443T>A	(Likely) pathogenic	1 lab	15032040bc
17:74729299 METTL23 T>C	17	74729299	74729299	T	C	METTL23	c.322+2T>C	NM_001080510.3	NP_001073979.3:p.?	NC_000017.10:g.74729299T>C	(Likely) pathogenic	1 lab	15034c154b
5:147493922 SPINK5 T>C	5	147493922	147493922	T	C	SPINK5	c.1888-3T>C	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147493922T>C	(Likely) pathogenic	1 lab	1508e515a9
17:33884425 SLFN14 T>G	17	33884425	33884425	T	G	SLFN14	c.657A>C	NM_001129820.1	NP_001123292.1:p.(Lys219Asn)	NC_000017.10:g.33884425T>G	(Likely) pathogenic	1 lab	150b7c4c26
3:50232239 GNAT1 C>T	3	50232239	50232239	C	T	GNAT1	c.904C>T	NM_144499.2	NP_653082.1:p.(Gln302Ter)	NC_000003.11:g.50232239C>T	(Likely) pathogenic	1 lab	150c07c6f0
2:26702322 OTOF G>A	2	26702322	26702322	G	A	OTOF				NC_000002.11:g.26702322G>A	(Likely) benign	1 lab	150e190b8e
9:21971184 CDKN2A T>G	9	21971184	21971184	T	G	CDKN2A	c.217A>C	NM_058195.3	NP_478102.2:p.(Ser73Arg)	NC_000009.11:g.21971184T>G	(Likely) benign	1 lab	0146b8b029
1:152280759 FLG A>G	1	152280759	152280759	A	G	FLG	c.6603T>C	NM_002016.2	NP_002007.1:p.(Asp2201=)	NC_000001.10:g.152280759A>G	(Likely) benign	1 lab	15102e696d
19:10934534 DNM2 G>A	19	10934534	10934534	G	A	DNM2	c.1852G>A	NM_001005360.2	NP_001005360.1:p.(Ala618Thr)	NC_000019.9:g.10934534G>A	(Likely) pathogenic	1 lab	1510867d0d
19:10883147 DNM2 C>G	19	10883147	10883147	C	G	DNM2	c.236-8C>G	NM_001005360.2	NP_001005360.1:p.?	NC_000019.9:g.10883147C>G	(Likely) benign	1 lab	1512525dcd
5:1878496 IRX4 T>TGGC	5	1878496	1878516	T	TGGC	IRX4	c.1144_1146dup	NM_001278632.1	NP_001265561.1:p.(Ala382dup)	NC_000005.9:g.1878514_1878516dup	(Likely) benign	1 lab	1515aa9c54
12:49427975 KMT2D G>C	12	49427975	49427975	G	C	KMT2D	c.10615C>G	NM_003482.3	NP_003473.3:p.(Arg3539Gly)	NC_000012.11:g.49427975G>C	VUS	1 lab	151773242a
14:59113313 DACT1 C>T	14	59113313	59113313	C	T	DACT1	c.1972C>T	NM_016651.6	NP_057735.2:p.(His658Tyr)	NC_000014.8:g.59113313C>T	(Likely) benign	1 lab	014b36d7b8
3:129202351 IFT122 T>C	3	129202351	129202351	T	C	IFT122				NC_000003.11:g.129202351T>C	(Likely) benign	1 lab	1bad7f05e4
1:154245848 HAX1 TG>T	1	154245848	154245849	TG	T	HAX1	c.91del	NM_006118.4	NP_006109.2:p.(Glu31LysfsTer54)	NC_000001.10:g.154245849del	(Likely) pathogenic	1 lab	1518036e6e
6:7576318 DSP T>G	6	7576318	7576318	T	G	DSP	c.2631-209T>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7576318T>G	(Likely) benign	1 lab	01e3cb98e9
5:65344533 ERBIN G>C	5	65344533	65344533	G	C	ERBIN	c.1827G>C	NM_001253697.2	NP_001240626.1:p.(Met609Ile)	NC_000005.9:g.65344533G>C	(Likely) benign	1 lab	014b7d5671
2:228111402 COL4A3 G>T	2	228111402	228111402	G	T	COL4A3	c.389G>T	NM_000091.4	NP_000082.2:p.(Gly130Val)	NC_000002.11:g.228111402G>T	VUS	1 lab	151c4cf563
3:168812978 MECOM G>A	3	168812978	168812978	G	A	MECOM	c.2905C>T	NM_004991.4	NP_004982.2:p.(Arg969Cys)	NC_000003.11:g.168812978G>A	(Likely) pathogenic	1 lab	151ca3cf68
14:77493652 IRF2BPL CGGCGGCGGCGGCGGCGGCGGCGGCAGCGCTTA>C	14	77493652	77493687	CGGCGGCGGCGGCGGCGGCGGCGGCAGCGCTTA	C	IRF2BPL	c.452_483del	NM_024496.4	NP_078772.1:p.(Leu151ArgfsTer102)	NC_000014.8:g.77493656_77493687del	(Likely) pathogenic	1 lab	1521a09078
10:122646350 WDR11 T>G	10	122646350	122646350	T	G	WDR11	c.2121+2T>G	NM_018117.12	NP_060587.8:p.?	NC_000010.10:g.122646350T>G	VUS	1 lab	1524e8c276
2:121746951 GLI2 T>TA	2	121746951	121746952	T	TA	GLI2	c.3462dup	NM_005270.4	NP_005261.2:p.(Asp1155ArgfsTer40)	NC_000002.11:g.121746952dup	(Likely) pathogenic	1 lab	152d044389
1:196706778 CFH C>A	1	196706778	196706778	C	A	CFH	c.2770C>A	NM_000186.3	NP_000177.2:p.(Pro924Thr)	NC_000001.10:g.196706778C>A	VUS	1 lab	152e83583b
19:44030760 ETHE1 ACT>A	19	44030760	44030766	ACT	A	ETHE1	c.131_132del	NM_014297.4	NP_055112.2:p.(Glu44ValfsTer62)	NC_000019.9:g.44030765_44030766del	(Likely) pathogenic	1 lab	152eeef28d
18:28648970 DSC2 C>A	18	28648970	28648970	C	A	DSC2	c.2398G>T	NM_024422.4	NP_077740.1:p.(Ala800Ser)	NC_000018.9:g.28648970C>A	(Likely) benign	1 lab	152f647e9f
1:241661267 FH T>C	1	241661267	241661267	T	C	FH	c.1394A>G	NM_000143.4	NP_000134.2:p.(Tyr465Cys)	NC_000001.10:g.241661267T>C	(Likely) pathogenic	1 lab	15338d94c7
17:29653169 NF1 C>T	17	29653169	29653169	C	T	NF1	c.5167C>T	NM_001042492.3	NP_001035957.1:p.(Gln1723Ter)	NC_000017.10:g.29653169C>T	(Likely) pathogenic	1 lab	1533a642e0
20:57428531 GNAS C>A	20	57428531	57428531	C	A	GNAS	c.24C>A	NM_001077490.1	NP_001070958.1:p.(Pro8=)	NC_000020.10:g.57428531C>A	(Likely) benign	1 lab	9a9cbcda3c
8:61736537 CHD7 A>T	8	61736537	61736537	A	T	CHD7				NC_000008.10:g.61736537A>T	(Likely) pathogenic	1 lab	153502539a
7:148506443 EZH2 C>T	7	148506443	148506443	C	T	EZH2	c.2069G>A	NM_004456.4	NP_004447.2:p.(Arg690His)	NC_000007.13:g.148506443C>T	VUS	1 lab	1537a27bec
8:143958098 CYP11B1 C>T	8	143958098	143958098	C	T	CYP11B1	c.799G>A	NM_000497.3	NP_000488.3:p.(Gly267Ser)	NC_000008.10:g.143958098C>T	(Likely) pathogenic	1 lab	153a25700a
17:41215390 BRCA1 C>T	17	41215390	41215390	C	T	BRCA1	c.5153G>A	NM_007294.3	NP_009225.1:p.(Trp1718Ter)	NC_000017.10:g.41215390C>T	(Likely) pathogenic	1 lab	153b190ae5
3:38798314 SCN10A T>C	3	38798314	38798314	T	C	SCN10A	c.1141A>G	NM_006514.3	NP_006505.3:p.(Ile381Val)	NC_000003.11:g.38798314T>C	(Likely) pathogenic	1 lab	153ce8d955
6:10830803 MAK C>T	6	10830803	10830803	C	T	MAK				NC_000006.11:g.10830803C>T	VUS	1 lab	153d3d27a3
15:35081738 ACTC1 C>G	15	35081738	35081738	C	G	ACTC1	c.*875G>C	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35081738C>G	(Likely) benign	1 lab	15438c5dee
15:72978531 BBS4 C>A	15	72978531	72978531	C	A	BBS4				NC_000015.9:g.72978531C>A	(Likely) benign	1 lab	1543bc33f0
17:11593370 DNAH9 C>G	17	11593370	11593370	C	G	DNAH9	c.4231C>G	NM_001372.4	NP_001363.2:p.(Leu1411Val)	NC_000017.10:g.11593370C>G	VUS	1 lab	15479d5c41
12:11506081 PRB1 C>T	12	11506081	11506081	C	T	PRB1	c.956G>A	NM_005039.3	NP_005030.2:p.(Arg319His)	NC_000012.11:g.11506081C>T	(Likely) benign	1 lab	9aaf39e2a0
10:88681409 BMPR1A C>T	10	88681409	88681409	C	T	BMPR1A	c.1299C>T	NM_004329.2	NP_004320.2:p.(Phe433=)	NC_000010.10:g.88681409C>T	(Likely) benign	1 lab	154ce52d81
8:72211889 EYA1 AATCC>A	8	72211889	72211894	AATCC	A	EYA1	c.619_622del	NM_000503.5	NP_000494.2:p.(Gly207LeufsTer33)	NC_000008.10:g.72211891_72211894del	(Likely) pathogenic	1 lab	154f832d5e
17:7788357 CHD3 C>T	17	7788357	7788357	C	T	CHD3	c.233C>T	NM_001005271.2	NP_001005271.2:p.(Pro78Leu)	NC_000017.10:g.7788357C>T	(Likely) benign	1 lab	9abb32f906
1:179887236 TOR1AIP1 C>A	1	179887236	179887236	C	A	TOR1AIP1	c.1617C>A	NM_001267578.1	NP_001254507.1:p.(Val539=)	NC_000001.10:g.179887236C>A	(Likely) benign	1 lab	15503d2598
11:2909505 SLC67A1-AS T>G	11	2909505	2909505	T	G	SLC67A1-AS	n.999A>C	NR_169304.1		NC_000011.9:g.2909505T>G	(Likely) benign	1 lab	9af5da0698
13:32972584 BRCA2 A>G	13	32972584	32972584	A	G	BRCA2	c.9934A>G	NM_000059.3	NP_000050.2:p.(Ile3312Val)	NC_000013.10:g.32972584A>G	(Likely) benign	1 lab	155568e24f
16:23647557 PALB2 G>A	16	23647557	23647557	G	A	PALB2	c.310C>T	NM_024675.3	NP_078951.2:p.(Pro104Ser)	NC_000016.9:g.23647557G>A	(Likely) benign	1 lab	15563ca2b9
2:47703496 MSH2 T>A	2	47703496	47703496	T	A	MSH2	c.2006-10T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703496T>A	(Likely) pathogenic	1 lab	155661b60e
17:16843756 TNFRSF13B C>T	17	16843756	16843756	C	T	TNFRSF13B	c.515G>A	NM_012452.3	NP_036584.1:p.(Cys172Tyr)	NC_000017.10:g.16843756C>T	(Likely) pathogenic	1 lab	1558c99102
2:179537014 TTN A>T	2	179537014	179537014	A	T	TTN	c.34931-20T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179537014A>T	(Likely) benign	1 lab	155ac038b3
X:102979868 GLRA4 G>A	X	102979868	102979868	G	A	GLRA4	n.452C>T	NR_164162.1		NC_000023.10:g.102979868G>A	VUS	1 lab	9bbe227512
7:128478688 FLNC C>G	7	128478688	128478688	C	G	FLNC	c.1242C>G	NM_001458.5	NP_001449.3:p.(Ile414Met)	NC_000007.13:g.128478688C>G	(Likely) benign	1 lab	155f66b119
12:6442981 TNFRSF1A T>C	12	6442981	6442981	T	C	TNFRSF1A	c.244A>G	NM_001065.3	NP_001056.1:p.(Arg82Gly)	NC_000012.11:g.6442981T>C	VUS	1 lab	014e623237
3:122002890 CASR G>A	3	122002890	122002890	G	A	CASR	c.2089G>A	NM_000388.4	NP_000379.3:p.(Val697Met)	NC_000003.11:g.122002890G>A	(Likely) pathogenic	1 lab	15641fc0de
11:2799299 KCNQ1 G>T	11	2799299	2799299	G	T	KCNQ1	c.1794+32G>T	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2799299G>T	(Likely) benign	1 lab	15645dac61
X:101098084 NXF5 G>A	X	101098084	101098084	G	A	NXF5	n.257+10C>T	NR_028089.1		NC_000023.10:g.101098084G>A	(Likely) benign	1 lab	9be6015f1e
X:100645970 RPL36A-HNRNPH2 C>T	X	100645970	100645970	C	T	RPL36A-HNRNPH2	c.47C>T	NM_001199973.1	NP_001186902.1:p.(Ser16Phe)	NC_000023.10:g.100645970C>T	(Likely) benign	1 lab	9c483ff74e
19:1495296 REEP6 C>A	19	1495296	1495296	C	A	REEP6	c.119C>A	NM_001329556.2	NP_001316485.1:p.(Ala40Asp)	NC_000019.9:g.1495296C>A	VUS	1 lab	156799dcef
1:1747221 GNB1 G>A	1	1747221	1747221	G	A	GNB1	c.177C>T	NM_002074.5	NP_002065.1:p.(Tyr59=)	NC_000001.10:g.1747221G>A	(Likely) benign	1 lab	0151ecc912
17:57760343 CLTC G>C	17	57760343	57760343	G	C	CLTC	c.3853G>C	NM_001288653.1	NP_001275582.1:p.(Asp1285His)	NC_000017.10:g.57760343G>C	VUS	1 lab	156da62dd7
5:127486971 SLC12A2 T>C	5	127486971	127486971	T	C	SLC12A2	c.2146T>C	NM_001046.3	NP_001037.1:p.(Ser716Pro)	NC_000005.9:g.127486971T>C	VUS	1 lab	156ddb4364
2:179393058 TTN T>C	2	179393058	179393058	T	C	TTN	c.107320A>G	NM_001267550.2	NP_001254479.2:p.(Ile35774Val)	NC_000002.11:g.179393058T>C	(Likely) benign	1 lab	156e0af329
18:28654699 DSC2 T>C	18	28654699	28654699	T	C	DSC2	c.1838A>G	NM_024422.6	NP_077740.1:p.(Glu613Gly)	NC_000018.9:g.28654699T>C	(Likely) benign	1 lab	1570ae2123
5:74664750 CERT1 T>TTG	5	74664750	74664752	T	TTG	CERT1	c.*10-268_*10-267insCA	NM_001379002.1	NP_001365931.1:p.?	NC_000005.9:g.74664751_74664752insGT	(Likely) benign	1 lab	9c74fb163a
18:31323255 ASXL3 CT>C	18	31323255	31323256	CT	C	ASXL3	c.3444del	NM_030632.1	NP_085135.1:p.(Glu1149LysfsTer107)	NC_000018.9:g.31323256del	VUS	1 lab	15742a759b
X:25022887 ARX G>C	X	25022887	25022887	G	C	ARX				NC_000023.10:g.25022887G>C	(Likely) pathogenic	1 lab	15765b4fb6
3:196214409 RNF168 T>C	3	196214409	196214409	T	C	RNF168	c.419A>G	NM_152617.3	NP_689830.2:p.(Lys140Arg)	NC_000003.11:g.196214409T>C	VUS	1 lab	15783d1cea
1:17085058 MST1L C>T	1	17085058	17085058	C	T	MST1L	c.1417G>A	NM_001271733.1	NP_001258662.1:p.(Gly473Ser)	NC_000001.10:g.17085058C>T	(Likely) benign	1 lab	9ce03f9750
11:76885871 MYO7A C>T	11	76885871	76885871	C	T	MYO7A	c.2005C>T	NM_000260.3	NP_000251.3:p.(Arg669Ter)	NC_000011.9:g.76885871C>T	(Likely) pathogenic	1 lab	1583fb6fa7
9:123199677 CDK5RAP2 A>T	9	123199677	123199677	A	T	CDK5RAP2	c.3851T>A	NM_018249.5	NP_060719.4:p.(Leu1284Ter)	NC_000009.11:g.123199677A>T	(Likely) pathogenic	1 lab	15883e0f50
4:187540481 FAT1 G>C	4	187540481	187540481	G	C	FAT1	c.7259C>G	NM_005245.4	NP_005236.2:p.(Ser2420Ter)	NC_000004.11:g.187540481G>C	VUS	1 lab	158a2bdfe3
7:128485168 FLNC A>T	7	128485168	128485168	A	T	FLNC	c.3649A>T	NM_001458.4	NP_001449.3:p.(Ser1217Cys)	NC_000007.13:g.128485168A>T	(Likely) benign	1 lab	158f8c3cbc
3:123457878 MYLK G>A	3	123457878	123457878	G	A	MYLK	c.454C>T	NM_053025.4	NP_444253.3:p.(Arg152Cys)	NC_000003.11:g.123457878G>A	(Likely) benign	1 lab	158fce0c8e
1:228527777 OBSCN G>A	1	228527777	228527777	G	A	OBSCN	c.20261G>A	NM_001271223.2	NP_001258152.2:p.(Ser6754Asn)	NC_000001.10:g.228527777G>A	(Likely) benign	1 lab	159148cf8e
1:155263276 PKLR T>G	1	155263276	155263276	T	G	PKLR	c.1222A>C	NM_000298.6	NP_000289.1:p.(Thr408Pro)	NC_000001.10:g.155263276T>G	VUS	1 lab	0152fb0328
10:73437448 CDH23 C>T	10	73437448	73437448	C	T	CDH23	c.1750C>T	NM_022124.5	NP_071407.4:p.(Arg584Trp)	NC_000010.10:g.73437448C>T	VUS	1 lab	15926c9729
7:151851373 KMT2C G>T	7	151851373	151851373	G	T	KMT2C				NC_000007.13:g.151851373G>T	VUS	1 lab	1594c0de8c
9:73946692 TRPM3 A>G	9	73946692	73946692	A	G	TRPM3	c.183+114877T>C	NM_001366141.2	NP_001353070.1:p.?	NC_000009.11:g.73946692A>G	VUS	1 lab	9d0087add0
10:112541517 RBM20 G>A	10	112541517	112541517	G	A	RBM20	c.1150G>A	NM_001134363.3	NP_001127835.2:p.(Glu384Lys)	NC_000010.10:g.112541517G>A	VUS	1 lab	1598223824
12:133198551 P2RX2 A>G	12	133198551	133198551	A	G	P2RX2	c.1409A>G	NM_170682.4	NP_733782.1:p.(Gln470Arg)	NC_000012.11:g.133198551A>G	VUS	1 lab	1598f9c6e4
8:145024734 PLEC C>T	8	145024734	145024734	C	T	PLEC	c.194-11874G>A	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024734C>T	VUS	1 lab	9d137b155a
2:167142896 SCN9A C>A	2	167142896	167142896	C	A	SCN9A	c.1552G>T	NM_002977.3	NP_002968.1:p.(Val518Phe)	NC_000002.11:g.167142896C>A	VUS	1 lab	159bed12ce
17:56770055 RAD51C C>T	17	56770055	56770055	C	T	RAD51C	c.51C>T	NM_058216.3	NP_478123.1:p.(Phe17=)	NC_000017.10:g.56770055C>T	(Likely) benign	1 lab	159fd23457
3:132407696 NPHP3 T>C	3	132407696	132407696	T	C	NPHP3	c.2923A>G	NM_153240.4	NP_694972.3:p.(Thr975Ala)	NC_000003.11:g.132407696T>C	VUS	1 lab	15a5979d61
12:33030781 PKP2 C>A	12	33030781	33030781	C	A	PKP2	c.1033G>T	NM_004572.3	NP_004563.2:p.(Gly345Trp)	NC_000012.11:g.33030781C>A	VUS	1 lab	15a59b9d1e
6:32049158 TNXB C>CACAG	6	32049158	32049164	C	CACAG	TNXB	c.4025_4028dup	NM_001365276.1	NP_001352205.1:p.(Val1344CysfsTer44)	NC_000006.11:g.32049161_32049164dup	(Likely) pathogenic	1 lab	15aa408d16
2:46706758 TMEM247 C>T	2	46706758	46706758	C	T	TMEM247	c.34C>T	NM_001145051.2	NP_001138523.1:p.(Arg12Trp)	NC_000002.11:g.46706758C>T	(Likely) benign	1 lab	9d4fea0648
11:77348702 CLNS1A G>A	11	77348702	77348702	G	A	CLNS1A	c.58C>T	NM_001293.2	NP_001284.1:p.(Gln20Ter)	NC_000011.9:g.77348702G>A	VUS	1 lab	15addb6438
11:76903282 MYO7A G>A	11	76903282	76903282	G	A	MYO7A	c.4111G>A	NM_000260.4	NP_000251.3:p.(Val1371Met)	NC_000011.9:g.76903282G>A	VUS	1 lab	15afed9e05
1:10421844 KIF1B G>A	1	10421844	10421844	G	A	KIF1B	c.4127G>A	NM_015074.3	NP_055889.2:p.(Arg1376His)	NC_000001.10:g.10421844G>A	VUS	1 lab	15c72d5dd6
4:111554100 PITX2 G>GAA	4	111554100	111554101	G	GAA	PITX2	c.46+8_46+9insTT	NM_001204397.1	NP_001191326.1:p.?	NC_000004.11:g.111554100_111554101insAA	(Likely) benign	1 lab	9dee5b4e9b
3:165547554 BCHE T>C	3	165547554	165547554	T	C	BCHE	c.1268A>G	NM_000055.3	NP_000046.1:p.(Asp423Gly)	NC_000003.11:g.165547554T>C	VUS	1 lab	15b72cfa0f
4:155670164 LRAT G>A	4	155670164	155670164	G	A	LRAT	c.569G>A	NM_004744.5	NP_004735.2:p.(Arg190His)	NC_000004.11:g.155670164G>A	(Likely) pathogenic	1 lab	15b79e7324
11:2168844 IGF2 A>G	11	2168844	2168844	A	G	IGF2	c.-55T>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2168844A>G	(Likely) benign	1 lab	9e07d681f3
3:37035123 MLH1 G>T	3	37035123	37035123	G	T	MLH1				NC_000003.11:g.37035123G>T	VUS	1 lab	15b7deeb40
3:38739173 SCN10A G>A	3	38739173	38739173	G	A	SCN10A	c.5538C>T	NM_006514.3	NP_006505.3:p.(Leu1846=)	NC_000003.11:g.38739173G>A	(Likely) benign	1 lab	15b8b518df
10:85954557 CDHR1 T>A	10	85954557	85954557	T	A	CDHR1	c.41T>A	NM_033100.3	NP_149091.1:p.(Leu14Gln)	NC_000010.10:g.85954557T>A	VUS	1 lab	15ba44ca22
1:110169051 AMPD2 T>G	1	110169051	110169051	T	G	AMPD2	c.693+2T>G	NM_001257360.1	NP_001244289.1:p.?	NC_000001.10:g.110169051T>G	(Likely) pathogenic	1 lab	15bd20c1fa
2:167141091 SCN9A C>T	2	167141091	167141091	C	T	SCN9A	c.1846G>A	NM_002977.3	NP_002968.1:p.(Gly616Arg)	NC_000002.11:g.167141091C>T	VUS	1 lab	15bf9914db
2:215593546 BARD1 G>T	2	215593546	215593546	G	T	BARD1	c.2188C>A	NM_000465.4	NP_000456.2:p.(Gln730Lys)	NC_000002.11:g.215593546G>T	VUS	1 lab	15c12c7fec
6:129419530 LAMA2 C>A	6	129419530	129419530	C	A	LAMA2	c.609C>A	NM_000426.3	NP_000417.2:p.(Tyr203Ter)	NC_000006.11:g.129419530C>A	(Likely) pathogenic	1 lab	15c2242241
2:179545002 TTN CT>C	2	179545002	179545006	CT	C	TTN	c.29664del	NM_133378.4	NP_596869.4:p.(Glu9889LysfsTer2)	NC_000002.11:g.179545006del	(Likely) pathogenic	1 lab	15c3f485e4
11:86666031 FZD4 G>A	11	86666031	86666031	G	A	FZD4				NC_000011.9:g.86666031G>A	(Likely) benign	1 lab	15c56a9395
12:6174445 VWF G>A	12	6174445	6174445	G	A	VWF	c.1157-6C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6174445G>A	(Likely) benign	1 lab	1624408a61
3:178952077 PIK3CA T>A	3	178952077	178952077	T	A	PIK3CA	c.3132T>A	NM_006218.3	NP_006209.2:p.(Asn1044Lys)	NC_000003.11:g.178952077T>A	(Likely) pathogenic	1 lab	15c65919a9
2:238305447 COL6A3 C>T	2	238305447	238305447	C	T	COL6A3	c.14G>A	NM_004369.3	NP_004360.2:p.(Arg5Gln)	NC_000002.11:g.238305447C>T	VUS	1 lab	15c6a17cd1
3:9985774 CRELD1 A>G	3	9985774	9985774	A	G	CRELD1	c.1237A>G	NM_001031717.3	NP_001026887.1:p.(Ile413Val)	NC_000003.11:g.9985774A>G	VUS	1 lab	0157c04c2a
3:186943260 MASP1 C>G	3	186943260	186943260	C	G	MASP1	c.1593G>C	NM_001879.5	NP_001870.3:p.(Gln531His)	NC_000003.11:g.186943260C>G	VUS	1 lab	9e657b9bb9
2:189861906 COL3A1 A>G	2	189861906	189861906	A	G	COL3A1	c.1777A>G	NM_000090.3	NP_000081.1:p.(Asn593Asp)	NC_000002.11:g.189861906A>G	(Likely) benign	1 lab	15cbe670e9
17:41258561 BRCA1 T>C	17	41258561	41258561	T	C	BRCA1	c.135-11A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258561T>C	(Likely) benign	1 lab	15cd6be924
13:20763173 GJB2 G>A	13	20763173	20763173	G	A	GJB2	c.548C>T	NM_004004.5	NP_003995.2:p.(Ser183Phe)	NC_000013.10:g.20763173G>A	(Likely) pathogenic	1 lab	15cfa591c9
15:91312667 BLM G>T	15	91312667	91312667	G	T	BLM	c.2407-1G>T	NM_000057.2	NP_000048.1:p.?	NC_000015.9:g.91312667G>T	(Likely) pathogenic	1 lab	15d32106d8
9:71836359 TJP2 G>A	9	71836359	71836359	G	A	TJP2	c.899G>A	NM_004817.3	NP_004808.2:p.(Arg300Lys)	NC_000009.11:g.71836359G>A	VUS	1 lab	15d3533f6d
5:146414741 PPP2R2B T>A	5	146414741	146414741	T	A	PPP2R2B	c.88+45881A>T	NM_001271899.1	NP_001258828.1:p.?	NC_000005.9:g.146414741T>A	(Likely) benign	1 lab	9e689bc8c0
2:133075467 ZNF285CP T>C	2	133075467	133075467	T	C	ZNF285CP	c.143-2274T>C	NM_001355461.1	NP_001342390.1:p.?	NC_000002.11:g.133075467T>C	VUS	1 lab	9f138115e3
2:48018173 MSH6 A>C	2	48018173	48018173	A	C	MSH6	c.368A>C	NM_000179.2	NP_000170.1:p.(Lys123Thr)	NC_000002.11:g.48018173A>C	VUS	1 lab	15db63f179
19:7704711 STXBP2 C>T	19	7704711	7704711	C	T	STXBP2	c.246+18C>T	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7704711C>T	(Likely) benign	1 lab	015a79e83b
1:151288808 PI4KB C>G	1	151288808	151288808	C	G	PI4KB	c.186G>C	NM_002651.4	NP_002642.1:p.(Lys62Asn)	NC_000001.10:g.151288808C>G	(Likely) benign	1 lab	15df5445b5
19:6690697 C3 C>T	19	6690697	6690697	C	T	C3				NC_000019.9:g.6690697C>T	VUS	1 lab	15e25143e7
6:112454055 LAMA4 A>G	6	112454055	112454055	A	G	LAMA4	c.3734T>C	NM_001105206.2	NP_001098676.2:p.(Ile1245Thr)	NC_000006.11:g.112454055A>G	(Likely) benign	1 lab	15e5ec3fe0
3:129247754 RHO T>C	3	129247754	129247754	T	C	RHO	c.178T>C	NM_000539.3	NP_000530.1:p.(Tyr60His)	NC_000003.11:g.129247754T>C	VUS	1 lab	15e73d8f75
20:62042997 KCNQ2 C>T	20	62042997	62042997	C	T	KCNQ2	c.1763+1806G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62042997C>T	(Likely) benign	1 lab	015b213f5d
3:11075377 SLC6A1 C>A	3	11075377	11075377	C	A	SLC6A1	c.1479C>A	NM_003042.4	NP_003033.3:p.(Cys493Ter)	NC_000003.11:g.11075377C>A	(Likely) pathogenic	1 lab	15f125e5c7
2:228563479 SLC19A3 C>T	2	228563479	228563479	C	T	SLC19A3	c.952G>A	NM_025243.4	NP_079519.1:p.(Ala318Thr)	NC_000002.11:g.228563479C>T	(Likely) pathogenic	1 lab	15f186b502
11:76903095 MYO7A G>A	11	76903095	76903095	G	A	MYO7A	c.3925-1G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76903095G>A	(Likely) pathogenic	1 lab	15f1cc7681
4:3494956 DOK7 C>T	4	3494956	3494956	C	T	DOK7	c.1243C>T	NM_173660.4	NP_775931.3:p.(Pro415Ser)	NC_000004.11:g.3494956C>T	(Likely) benign	1 lab	15f2c25289
19:18191766 IL12RB1 G>A	19	18191766	18191766	G	A	IL12RB1	c.285C>T	NM_005535.1	NP_005526.1:p.(Thr95=)	NC_000019.9:g.18191766G>A	(Likely) benign	1 lab	015eb8c7a4
10:70231802 DNA2 G>A	10	70231802	70231802	G	A	DNA2	n.68+9C>T	NR_102264.1		NC_000010.10:g.70231802G>A	(Likely) benign	1 lab	a0b0c4af08
6:64430491 EYS CTTAT>C	6	64430491	64430495	CTTAT	C	EYS	c.9432_9435del	NM_001142800.2	NP_001136272.1:p.(Ter3145LeuextTer38)	NC_000006.11:g.64430492_64430495del	VUS	1 lab	15fd7c0de3
2:179449278 TTN C>T	2	179449278	179449278	C	T	TTN	c.65000G>A	NM_001267550.2	NP_001254479.2:p.(Arg21667Gln)	NC_000002.11:g.179449278C>T	(Likely) benign	1 lab	15ff816196
9:111655274 ELP1 G>A	9	111655274	111655274	G	A	ELP1	c.2950C>T	NM_003640.5	NP_003631.2:p.(Gln984Ter)	NC_000009.11:g.111655274G>A	(Likely) pathogenic	1 lab	1602adf4aa
1:215824058 USH2A G>T	1	215824058	215824058	G	T	USH2A	c.14219C>A	NM_206933.4	NP_996816.3:p.(Ala4740Asp)	NC_000001.10:g.215824058G>T	(Likely) pathogenic	1 lab	160578d841
1:27688743 MAP3K6 T>C	1	27688743	27688743	T	C	MAP3K6	c.1256-2A>G	NM_004672.4	NP_004663.3:p.?	NC_000001.10:g.27688743T>C	VUS	1 lab	16057bfc96
10:135182465 ECHS1 T>C	10	135182465	135182465	T	C	ECHS1	c.476A>G	NM_004092.3	NP_004083.3:p.(Gln159Arg)	NC_000010.10:g.135182465T>C	(Likely) pathogenic	1 lab	16062d33d6
20:57429520 GNAS C>A	20	57429520	57429520	C	A	GNAS	c.1013C>A	NM_001077490.1	NP_001070958.1:p.(Pro338Gln)	NC_000020.10:g.57429520C>A	(Likely) benign	1 lab	9f9d04db33
2:167055290 SCN9A G>C	2	167055290	167055290	G	C	SCN9A	c.5859C>G	NM_001365536.1	NP_001352465.1:p.(Thr1953=)	NC_000002.11:g.167055290G>C	(Likely) benign	1 lab	16076d7a4a
11:2161513 IGF2 T>G	11	2161513	2161513	T	G	IGF2	c.-6-4754A>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2161513T>G	(Likely) benign	1 lab	a045c468a5
7:101921289 CUX1 A>G	7	101921289	101921289	A	G	CUX1	c.1585A>G	NM_001202544.1	NP_001189473.1:p.(Ile529Val)	NC_000007.13:g.101921289A>G	(Likely) benign	1 lab	a06ff93709
6:21595222 SOX4 G>T	6	21595222	21595222	G	T	SOX4	c.457G>T	NM_003107.3	NP_003098.1:p.(Glu153Ter)	NC_000006.11:g.21595222G>T	(Likely) pathogenic	1 lab	1612141481
12:100811842 SLC17A8 T>C	12	100811842	100811842	T	C	SLC17A8	c.1333T>C	NM_139319.2	NP_647480.1:p.(Tyr445His)	NC_000012.11:g.100811842T>C	VUS	1 lab	161dc652c0
16:57938724 CNGB1 G>C	16	57938724	57938724	G	C	CNGB1	c.2548C>G	NM_001297.5	NP_001288.3:p.(Pro850Ala)	NC_000016.9:g.57938724G>C	VUS	1 lab	161f60fa35
2:109374952 RANBP2 A>G	2	109374952	109374952	A	G	RANBP2	c.2550A>G	NM_006267.5	NP_006258.3:p.(Ser850=)	NC_000002.11:g.109374952A>G	(Likely) benign	1 lab	1622de70a4
8:10465012 RP1L1 G>A	8	10465012	10465012	G	A	RP1L1	c.6596C>T	NM_178857.5	NP_849188.4:p.(Pro2199Leu)	NC_000008.10:g.10465012G>A	(Likely) benign	1 lab	1625b6000d
4:114262866 ANK2 C>A	4	114262866	114262866	C	A	ANK2	c.3916C>A	NM_001148.5	NP_001139.3:p.(Gln1306Lys)	NC_000004.11:g.114262866C>A	VUS	1 lab	162621126b
3:48629230 COL7A1 T>C	3	48629230	48629230	T	C	COL7A1				NC_000003.11:g.48629230T>C	(Likely) benign	1 lab	c9f221b182
1:41284326 KCNQ4 G>T	1	41284326	41284326	G	T	KCNQ4	c.682G>T	NM_004700.3	NP_004691.2:p.(Gly228Cys)	NC_000001.10:g.41284326G>T	(Likely) benign	1 lab	1626705d63
6:159263180 OSTCP1 G>A	6	159263180	159263180	G	A	OSTCP1	n.173-9C>T	NR_028496.1		NC_000006.11:g.159263180G>A	(Likely) benign	1 lab	a2aa32eeb9
15:27128569 GABRA5 A>G	15	27128569	27128569	A	G	GABRA5				NC_000015.9:g.27128569A>G	VUS	1 lab	1629cabdee
16:56906626 SLC12A3 C>T	16	56906626	56906626	C	T	SLC12A3	c.1023C>T	NM_000339.2	NP_000330.2:p.(Phe341=)	NC_000016.9:g.56906626C>T	(Likely) benign	1 lab	162b7f07e9
1:196884074 CFHR4 A>T	1	196884074	196884074	A	T	CFHR4	c.1358-12A>T	NM_001201550.2	NP_001188479.1:p.?	NC_000001.10:g.196884074A>T	(Likely) benign	1 lab	162f576062
20:62076674 KCNQ2 C>T	20	62076674	62076674	C	T	KCNQ2	c.431G>A	NM_172107.4	NP_742105.1:p.(Arg144Gln)	NC_000020.10:g.62076674C>T	(Likely) pathogenic	1 lab	16339e11dd
1:147381382 GJA8 T>C	1	147381382	147381382	T	C	GJA8	c.1300T>C	NM_005267.5	NP_005258.2:p.(Ter434ArgextTer?)	NC_000001.10:g.147381382T>C	VUS	1 lab	16372a11cf
19:50909744 POLD1 C>T	19	50909744	50909744	C	T	POLD1	c.1464C>T	NM_002691.3	NP_002682.2:p.(Asp488=)	NC_000019.9:g.50909744C>T	(Likely) benign	1 lab	16376fa865
12:48380113 COL2A1 C>T	12	48380113	48380113	C	T	COL2A1	c.1527+6G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48380113C>T	VUS	1 lab	1639b140be
1:216143998 USH2A C>A	1	216143998	216143998	C	A	USH2A	c.6926G>T	NM_206933.2	NP_996816.2:p.(Cys2309Phe)	NC_000001.10:g.216143998C>A	VUS	1 lab	163d8d6635
1:155880486 RIT1 T>G	1	155880486	155880486	T	G	RIT1	c.67A>C	NM_006912.6	NP_008843.1:p.(Lys23Gln)	NC_000001.10:g.155880486T>G	(Likely) pathogenic	1 lab	1641669566
4:26211307 RBPJ C>T	4	26211307	26211307	C	T	RBPJ	c.-167+46071C>T	NM_001374401.1	NP_001361330.1:p.?	NC_000004.11:g.26211307C>T	(Likely) benign	1 lab	a3402dbbb1
X:37061736 FTHL18P C>T	X	37061736	37061736	C	T	FTHL18P	c.26G>A	NM_001271682.1	NP_001258611.1:p.(Arg9His)	NC_000023.10:g.37061736C>T	VUS	1 lab	a34a0bcc7c
4:147215207 SLC10A7 T>G	4	147215207	147215207	T	G	SLC10A7	c.596A>C	NM_001029998.6	NP_001025169.1:p.(Lys199Thr)	NC_000004.11:g.147215207T>G	VUS	1 lab	16481f4180
5:112162946 APC T>C	5	112162946	112162946	T	C	APC	c.1548+2T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162946T>C	(Likely) pathogenic	1 lab	1649dbf795
9:130965858 DNM1 G>T	9	130965858	130965858	G	T	DNM1	c.109G>T	NM_004408.3	NP_004399.2:p.(Val37Leu)	NC_000009.11:g.130965858G>T	VUS	1 lab	164b382f1e
13:32890571 BRCA2 A>G	13	32890571	32890571	A	G	BRCA2	c.-27A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890571A>G	(Likely) benign	1 lab	164c04b1b0
11:64578119 MEN1 T>C	11	64578119	64578119	T	C	MEN1	c.-41A>G	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64578119T>C	(Likely) benign	1 lab	164d808714
X:591156 SHOX C>T	X	591156	591156	C	T	SHOX	c.-432-45C>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591156C>T	(Likely) benign	1 lab	16514b6a43
18:33779777 MOCOS G>A	18	33779777	33779777	G	A	MOCOS	c.431G>A	NM_017947.4	NP_060417.4:p.(Arg144His)	NC_000018.9:g.33779777G>A	(Likely) benign	1 lab	0164805960
20:34022434 GDF5 GC>G	20	34022434	34022437	GC	G	GDF5	c.778del	NM_000557.5	NP_000548.2:p.(Ala260LeufsTer4)	NC_000020.10:g.34022437del	(Likely) pathogenic	1 lab	1654b752ad
3:142430733 MISSING C>T	3	142430733	142430733	C	T	MISSING				NC_000003.11:g.142430733C>T	(Likely) benign	1 lab	cd8b86a2f2
4:79240286 FRAS1 A>C	4	79240286	79240286	A	C	FRAS1	c.2137+146A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79240286A>C	(Likely) benign	1 lab	016a184cf7
20:23345524 GZF1 CA>C	20	23345524	23345525	CA	C	GZF1	c.505del	NM_022482.5	NP_071927.1:p.(Thr169ProfsTer37)	NC_000020.10:g.23345525del	(Likely) pathogenic	1 lab	165c5b033a
22:29115462 CHEK2 AAAAGAC>A	22	29115462	29115471	AAAAGAC	A	CHEK2	c.598_603del	NM_007194.3	NP_009125.1:p.(Val200_Phe201del)	NC_000022.10:g.29115466_29115471del	VUS	1 lab	165d1e0968
2:48024850 MSH6 T>C	2	48024850	48024850	T	C	MSH6	c.628-900T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48024850T>C	(Likely) benign	1 lab	165e06482f
13:50283779 KPNA3 CCTGG>TTGTGCCAGTCACTATGTTGCCA	13	50283779	50283783	CCTGG	TTGTGCCAGTCACTATGTTGCCA	KPNA3	c.957_961delinsTGGCAACATAGTGACTGGCACAA	NM_002267.4	NP_002258.2:p.(Gln320_Val321delinsGlyAsnIleValThrGlyThrIle)	NC_000013.10:g.50283779_50283783delinsTTGTGCCAGTCACTATGTTGCCA	VUS	1 lab	165f4d1b3a
10:26310506 MYO3A C>T	10	26310506	26310506	C	T	MYO3A	c.660C>T	NM_017433.4	NP_059129.3:p.(Ala220=)	NC_000010.10:g.26310506C>T	(Likely) benign	1 lab	1661929c3a
2:227872043 COL4A4 A>G	2	227872043	227872043	A	G	COL4A4	c.5071T>C	NM_000092.4	NP_000083.3:p.(Ter1691GlnextTer24)	NC_000002.11:g.227872043A>G	VUS	1 lab	016cb2e0f7
7:94040223 COL1A2 T>C	7	94040223	94040223	T	C	COL1A2	c.1220T>C	NM_000089.4	NP_000080.2:p.(Leu407Pro)	NC_000007.13:g.94040223T>C	(Likely) pathogenic	1 lab	166cf18798
17:17117172 FLCN T>C	17	17117172	17117172	T	C	FLCN	c.1539-2A>G	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17117172T>C	(Likely) pathogenic	1 lab	166dc7a8a5
22:24324850 GSTT2 T>C	22	24324850	24324850	T	C	GSTT2	c.232T>C	NM_000854.3	NP_000845.1:p.(Tyr78His)	NC_000022.10:g.24324850T>C	VUS	1 lab	a45c301c37
2:48915312 LHCGR T>G	2	48915312	48915312	T	G	LHCGR	c.1624A>C	NM_000233.3	NP_000224.2:p.(Ile542Leu)	NC_000002.11:g.48915312T>G	(Likely) pathogenic	1 lab	1670b61808
2:216211528 ATIC G>A	2	216211528	216211528	G	A	ATIC	c.1367G>A	NM_004044.6	NP_004035.2:p.(Arg456His)	NC_000002.11:g.216211528G>A	VUS	1 lab	1671793388
8:143993315 CYP11B2 C>T	8	143993315	143993315	C	T	CYP11B2				NC_000008.10:g.143993315C>T	(Likely) benign	1 lab	16719e4ee8
2:179611851 TTN C>A	2	179611851	179611851	C	A	TTN	c.11312-5203G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611851C>A	(Likely) benign	1 lab	1673fc65c2
1:196797195 CFHR1 C>T	1	196797195	196797195	C	T	CFHR1	c.431-5C>T	NM_002113.2	NP_002104.2:p.?	NC_000001.10:g.196797195C>T	(Likely) benign	1 lab	01703aef90
X:101096741 NXF5 T>C	X	101096741	101096741	T	C	NXF5	n.505A>G	NR_028089.1		NC_000023.10:g.101096741T>C	(Likely) benign	1 lab	a46cabf2ee
2:88019368 ANAPC1P4 G>A	2	88019368	88019368	G	A	ANAPC1P4	n.897G>A	NR_160651.1		NC_000002.11:g.88019368G>A	(Likely) benign	1 lab	a4c3aa23ac
19:17392671 ANKLE1 C>T	19	17392671	17392671	C	T	ANKLE1	c.104C>T	NM_001278443.1	NP_001265372.1:p.(Pro35Leu)	NC_000019.9:g.17392671C>T	VUS	1 lab	a4fb1cd7ea
17:39998448 KLHL10 A>T	17	39998448	39998448	A	T	KLHL10	c.568A>T	NM_152467.5	NP_689680.2:p.(Ile190Phe)	NC_000017.10:g.39998448A>T	(Likely) benign	1 lab	167f884127
7:155595928 SHH C>A	7	155595928	155595928	C	A	SHH	c.1055G>T	NM_000193.3	NP_000184.1:p.(Gly352Val)	NC_000007.13:g.155595928C>A	(Likely) pathogenic	1 lab	168029b65c
2:210642092 UNC80 C>T	2	210642092	210642092	C	T	UNC80	c.409C>T	NM_032504.1	NP_115893.1:p.(Arg137Ter)	NC_000002.11:g.210642092C>T	(Likely) pathogenic	1 lab	168ad5c70a
17:4804818 CHRNE A>T	17	4804818	4804818	A	T	CHRNE	c.601+2T>A	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4804818A>T	(Likely) pathogenic	1 lab	168d4deeb7
17:4802891 CHRNE A>G	17	4802891	4802891	A	G	CHRNE	c.918-14T>C	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4802891A>G	VUS	1 lab	168facfc67
2:179439885 TTN G>A	2	179439885	179439885	G	A	TTN	c.44154C>T	NM_133432.3	NP_597676.3:p.(Leu14718=)	NC_000002.11:g.179439885G>A	(Likely) benign	1 lab	017234a1e8
2:47702384 MSH2 T>TA	2	47702384	47702387	T	TA	MSH2	c.1983dup	NM_000251.3	NP_000242.1:p.(Gln662ThrfsTer14)	NC_000002.11:g.47702387dup	(Likely) pathogenic	1 lab	169296ed30
14:69061259 RAD51B C>G	14	69061259	69061259	C	G	RAD51B	c.1037-8121C>G	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69061259C>G	(Likely) benign	1 lab	a5affd9df6
6:139071414 CCDC28A-AS1 A>G	6	139071414	139071414	A	G	CCDC28A-AS1	n.312-8T>C	NR_161203.1		NC_000006.11:g.139071414A>G	(Likely) benign	1 lab	a5b22a0e0a
7:40102423 CDK13 A>G	7	40102423	40102423	A	G	CDK13	c.2601-2A>G	NM_003718.4	NP_003709.3:p.?	NC_000007.13:g.40102423A>G	(Likely) pathogenic	1 lab	16941a671d
11:101325788 TRPC6 G>A	11	101325788	101325788	G	A	TRPC6	c.2529C>T	NM_004621.5	NP_004612.2:p.(Phe843=)	NC_000011.9:g.101325788G>A	(Likely) benign	1 lab	16984306e3
1:94476865 ABCA4 A>G	1	94476865	94476865	A	G	ABCA4	c.5537T>C	NM_000350.2	NP_000341.2:p.(Ile1846Thr)	NC_000001.10:g.94476865A>G	(Likely) pathogenic	1 lab	1699cc48e2
11:86782644 TMEM135 G>C	11	86782644	86782644	G	C	TMEM135	c.349G>C	NM_022918.3	NP_075069.3:p.(Glu117Gln)	NC_000011.9:g.86782644G>C	VUS	1 lab	169f6df54b
10:13169842 OPTN T>A	10	13169842	13169842	T	A	OPTN	c.1340T>A	NM_021980.4	NP_068815.2:p.(Met447Lys)	NC_000010.10:g.13169842T>A	VUS	1 lab	0174a63f2f
11:121039444 TECTA T>C	11	121039444	121039444	T	C	TECTA				NC_000011.9:g.121039444T>C	VUS	1 lab	16a3cab7e5
10:21120393 NEBL C>CTGT	10	21120393	21120396	C	CTGT	NEBL	c.1560+6_1560+8dup	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21120394_21120396dup	(Likely) benign	1 lab	0177a4ba6a
13:103054004 FGF14 T>C	13	103054004	103054004	T	C	FGF14	c.25A>G	NM_001321937.1	NP_001308866.1:p.(Arg9Gly)	NC_000013.10:g.103054004T>C	(Likely) benign	1 lab	a6a9ad7f16
15:72103906 NR2E3 A>G	15	72103906	72103906	A	G	NR2E3	c.202A>G	NM_014249.2	NP_055064.1:p.(Ser68Gly)	NC_000015.9:g.72103906A>G	VUS	1 lab	16ae148f7a
20:2637427 NOP56 C>T	20	2637427	2637427	C	T	NOP56	c.1167C>T	NM_006392.4	NP_006383.2:p.(Pro389=)	NC_000020.10:g.2637427C>T	(Likely) benign	1 lab	0179485ca5
15:93552499 CHD2 T>G	15	93552499	93552499	T	G	CHD2	c.4538T>G	NM_001271.4	NP_001262.3:p.(Ile1513Arg)	NC_000015.9:g.93552499T>G	VUS	1 lab	16afa94df3
2:162279878 TBR1 A>G	2	162279878	162279878	A	G	TBR1				NC_000002.11:g.162279878A>G	(Likely) pathogenic	1 lab	16b04d13ad
6:7581688 DSP G>C	6	7581688	7581688	G	C	DSP	c.5265G>C	NM_004415.4	NP_004406.2:p.(Gln1755His)	NC_000006.11:g.7581688G>C	VUS	1 lab	16b4a485c2
20:57430568 GNAS A>T	20	57430568	57430568	A	T	GNAS	c.1881+180A>T	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57430568A>T	(Likely) benign	1 lab	a6ccc73648
5:140956355 DIAPH1 C>T	5	140956355	140956355	C	T	DIAPH1	c.1364G>A	NM_005219.4	NP_005210.3:p.(Arg455Gln)	NC_000005.9:g.140956355C>T	(Likely) benign	1 lab	16b9891f5c
7:75544455 POR A>C	7	75544455	75544455	A	C	POR	c.-47A>C	NM_000941.2	NP_000932.3:p.?	NC_000007.13:g.75544455A>C	(Likely) benign	1 lab	16ba0e9758
2:47703667 MSH2 T>G	2	47703667	47703667	T	G	MSH2	c.2167T>G	NM_000251.3	NP_000242.1:p.(Ser723Ala)	NC_000002.11:g.47703667T>G	VUS	1 lab	16ba382629
1:55474325 BSND A>C	1	55474325	55474325	A	C	BSND	c.*24A>C	NM_057176.2	NP_476517.1:p.?	NC_000001.10:g.55474325A>C	(Likely) benign	1 lab	16bae26d58
1:228480441 OBSCN G>A	1	228480441	228480441	G	A	OBSCN	c.12108G>A	NM_001271223.2	NP_001258152.2:p.(Ser4036=)	NC_000001.10:g.228480441G>A	(Likely) benign	1 lab	16bbbecb91
X:151896350 CSAG4 C>G	X	151896350	151896350	C	G	CSAG4	n.382-1G>C	NR_073432.1		NC_000023.10:g.151896350C>G	(Likely) benign	1 lab	a6e55e1d03
12:6153464 VWF G>A	12	6153464	6153464	G	A	VWF	c.2435C>T	NM_000552.3	NP_000543.2:p.(Pro812Leu)	NC_000012.11:g.6153464G>A	VUS	1 lab	16c6aae7bf
12:133254083 POLE T>C	12	133254083	133254083	T	C	POLE	c.721-54A>G	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133254083T>C	(Likely) benign	1 lab	16cc7a49ed
10:73553025 CDH23 G>A	10	73553025	73553025	G	A	CDH23	c.6340G>A	NM_022124.5	NP_071407.4:p.(Asp2114Asn)	NC_000010.10:g.73553025G>A	VUS	1 lab	16d2ce0199
1:156084714 LMNA A>T	1	156084714	156084714	A	T	LMNA	c.5A>T	NM_170707.3	NP_733821.1:p.(Glu2Val)	NC_000001.10:g.156084714A>T	VUS	1 lab	16d38bbe91
13:32889673 BRCA2 G>A	13	32889673	32889673	G	A	BRCA2	c.-171G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889673G>A	(Likely) benign	1 lab	16d5860f02
1:228560338 OBSCN G>A	1	228560338	228560338	G	A	OBSCN	c.21859G>A	NM_001098623.2	NP_001092093.2:p.(Gly7287Ser)	NC_000001.10:g.228560338G>A	(Likely) benign	1 lab	16d699c858
1:152283320 FLG G>A	1	152283320	152283320	G	A	FLG	c.4042C>T	NM_002016.1	NP_002007.1:p.(Gln1348Ter)	NC_000001.10:g.152283320G>A	(Likely) pathogenic	1 lab	16d952dff3
20:62126421 EEF1A2 C>T	20	62126421	62126421	C	T	EEF1A2	c.358G>A	NM_001958.3	NP_001949.1:p.(Val120Met)	NC_000020.10:g.62126421C>T	VUS	1 lab	16d9577dbb
2:25505331 DNMT3A G>A	2	25505331	25505331	G	A	DNMT3A	c.427C>T	NM_022552.5	NP_072046.2:p.(Arg143Ter)	NC_000002.11:g.25505331G>A	(Likely) pathogenic	1 lab	16db53e97f
2:168107352 XIRP2 TG>CC	2	168107352	168107353	TG	CC	XIRP2	c.9450_9451delinsCC	NM_152381.5	NP_689594.4:p.(Val3151Leu)	NC_000002.11:g.168107352_168107353delinsCC	(Likely) benign	1 lab	16dbc56bfb
17:41243445 BRCA1 C>A	17	41243445	41243445	C	A	BRCA1	c.4096+7G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243445C>A	VUS	1 lab	16de0951e3
18:19429180 MIB1 CTTCT>C	18	19429180	19429184	CTTCT	C	MIB1	c.2418_2421del	NM_020774.3	NP_065825.1:p.(Ser807Ter)	NC_000018.9:g.19429181_19429184del	(Likely) pathogenic	1 lab	16e1d487da
6:7583092 DSP A>G	6	7583092	7583092	A	G	DSP	c.5597A>G	NM_004415.4	NP_004406.2:p.(Gln1866Arg)	NC_000006.11:g.7583092A>G	VUS	1 lab	16e2c8322f
X:102979464 GLRA4 C>G	X	102979464	102979464	C	G	GLRA4	n.562+5G>C	NR_164162.1		NC_000023.10:g.102979464C>G	(Likely) benign	1 lab	a7a3861029
3:38991703 SCN11A G>A	3	38991703	38991703	G	A	SCN11A	c.151C>T	NM_014139.2	NP_054858.2:p.(Arg51Trp)	NC_000003.11:g.38991703G>A	VUS	1 lab	16e530385c
12:133256204 POLE T>C	12	133256204	133256204	T	C	POLE	c.457A>G	NM_006231.4	NP_006222.2:p.(Ile153Val)	NC_000012.11:g.133256204T>C	VUS	1 lab	16e5aa9a8b
6:32007325 TNXB C>G	6	32007325	32007325	C	G	TNXB				NC_000006.11:g.32007325C>G	(Likely) benign	1 lab	16e5dd7de6
1:6511932 ESPN C>T	1	6511932	6511932	C	T	ESPN				NC_000001.10:g.6511932C>T	VUS	1 lab	16e7807cca
11:119535546 NECTIN1 G>A	11	119535546	119535546	G	A	NECTIN1	c.1465C>T	NM_002855.5	NP_002846.3:p.(Gln489Ter)	NC_000011.9:g.119535546G>A	(Likely) pathogenic	1 lab	16e8bc8082
7:143027961 CLCN1 G>A	7	143027961	143027961	G	A	CLCN1	c.950G>A	NM_000083.2	NP_000074.2:p.(Arg317Gln)	NC_000007.13:g.143027961G>A	(Likely) pathogenic	1 lab	16eb71b53d
3:38651586 SCN5A G>C	3	38651586	38651586	G	C	SCN5A	c.704-131C>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38651586G>C	(Likely) benign	1 lab	16eddcc61a
17:62019299 SCN4A C>T	17	62019299	62019299	C	T	SCN4A	c.4343G>A	NM_000334.4	NP_000325.4:p.(Arg1448His)	NC_000017.10:g.62019299C>T	(Likely) pathogenic	1 lab	16edf606d2
2:16086005 MYCN G>A	2	16086005	16086005	G	A	MYCN	c.1181G>A	NM_005378.4	NP_005369.2:p.(Arg394His)	NC_000002.11:g.16086005G>A	(Likely) pathogenic	1 lab	16f077705a
1:156084622 LMNA G>T	1	156084622	156084622	G	T	LMNA	c.-88G>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156084622G>T	(Likely) benign	1 lab	16f0cd305b
2:61413875 AHSA2P T>C	2	61413875	61413875	T	C	AHSA2P	n.2098+243T>C	NR_152210.1		NC_000002.11:g.61413875T>C	VUS	1 lab	a7b6b86bfe
11:47354068 MYBPC3 G>A	11	47354068	47354068	G	A	MYBPC3	c.3627+49C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354068G>A	(Likely) benign	1 lab	16f73cae02
5:36122406 LMBRD2 G>A	5	36122406	36122406	G	A	LMBRD2	c.1096C>T	NM_001007527.2	NP_001007528.1:p.(Gln366Ter)	NC_000005.9:g.36122406G>A	VUS	1 lab	16f7444d31
12:58135836 AGAP2 A>T	12	58135836	58135836	A	T	AGAP2	c.19T>A	NM_014770.3	NP_055585.1:p.(Phe7Ile)	NC_000012.11:g.58135836A>T	(Likely) benign	1 lab	a82d71b4a8
X:103031893 PLP1 C>T	X	103031893	103031893	C	T	PLP1	c.-31C>T	NM_000533.5	NP_000524.3:p.?	NC_000023.10:g.103031893C>T	(Likely) benign	1 lab	017c1a8d16
X:128624163 SMARCA1 C>T	X	128624163	128624163	C	T	SMARCA1	c.1822G>A	NM_001282874.2	NP_001269803.1:p.(Ala608Thr)	NC_000023.10:g.128624163C>T	(Likely) benign	1 lab	1701617858
4:77662194 SHROOM3 C>T	4	77662194	77662194	C	T	SHROOM3	c.2868C>T	NM_020859.3	NP_065910.3:p.(Ser956=)	NC_000004.11:g.77662194C>T	(Likely) benign	1 lab	17019382fd
16:1262014 CACNA1H C>T	16	1262014	1262014	C	T	CACNA1H	c.4635C>T	NM_021098.3	NP_066921.2:p.(Phe1545=)	NC_000016.9:g.1262014C>T	(Likely) benign	1 lab	017ded1111
9:43894247 CNTNAP3B T>C	9	43894247	43894247	T	C	CNTNAP3B	c.2923T>C	NM_001201380.1	NP_001188309.1:p.(Cys975Arg)	NC_000009.11:g.43894247T>C	VUS	1 lab	a836d43d34
12:32949174 PKP2 G>A	12	32949174	32949174	G	A	PKP2	c.2358C>T	NM_004572.3	NP_004563.2:p.(Asp786=)	NC_000012.11:g.32949174G>A	(Likely) benign	1 lab	17081ccfa7
3:122003044 CASR C>A	3	122003044	122003044	C	A	CASR	c.2243C>A	NM_000388.3	NP_000379.2:p.(Pro748His)	NC_000003.11:g.122003044C>A	VUS	1 lab	170a427b9e
17:62028843 SCN4A C>T	17	62028843	62028843	C	T	SCN4A				NC_000017.10:g.62028843C>T	(Likely) benign	1 lab	170a9eaeb2
19:6495889 TUBB4A G>A	19	6495889	6495889	G	A	TUBB4A	c.774C>T	NM_001289123.1	NP_001276052.1:p.(Leu258=)	NC_000019.9:g.6495889G>A	(Likely) benign	1 lab	170b402ac3
18:2697853 SMCHD1 G>GT	18	2697853	2697854	G	GT	SMCHD1	c.1157dup	NM_015295.2	NP_056110.2:p.(Pro387ThrfsTer2)	NC_000018.9:g.2697854dup	(Likely) pathogenic	1 lab	170b7bad78
3:9512488 SETD5 G>T	3	9512488	9512488	G	T	SETD5				NC_000003.11:g.9512488G>T	(Likely) pathogenic	1 lab	170edcc31b
2:179598224 TTN G>A	2	179598224	179598224	G	A	TTN	c.12064C>T	NM_133378.4	NP_596869.4:p.(Arg4022Ter)	NC_000002.11:g.179598224G>A	(Likely) pathogenic	1 lab	1711732ff9
10:18429719 CACNB2 G>C	10	18429719	18429719	G	C	CACNB2	c.54G>C	NM_201596.2	NP_963890.2:p.(Ala18=)	NC_000010.10:g.18429719G>C	(Likely) benign	1 lab	1713b11fa0
15:40727623 IVD C>T	15	40727623	40727623	C	T	IVD	c.1237C>T	NM_001354598.1	NP_001341527.1:p.(Leu413Phe)	NC_000015.9:g.40727623C>T	VUS	1 lab	a8cd6717cb
X:41390319 CASK C>A	X	41390319	41390319	C	A	CASK	c.2446G>T	NM_003688.3	NP_003679.2:p.(Glu816Ter)	NC_000023.10:g.41390319C>A	(Likely) pathogenic	1 lab	171d715f47
11:118015841 SCN4B G>A	11	118015841	118015841	G	A	SCN4B	c.165C>T	NM_174934.4	NP_777594.1:p.(Phe55=)	NC_000011.9:g.118015841G>A	(Likely) benign	1 lab	171e3ce3d0
8:55538453 RP1 A>C	8	55538453	55538453	A	C	RP1				NC_000008.10:g.55538453A>C	VUS	1 lab	171f0b7624
6:32130329 PPT2 C>G	6	32130329	32130329	C	G	PPT2	c.729-16C>G	NM_138717.3	NP_619731.2:p.?	NC_000006.11:g.32130329C>G	(Likely) benign	1 lab	017fcabed1
X:31198484 DMD T>C	X	31198484	31198484	T	C	DMD	c.10086+3A>G	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31198484T>C	(Likely) benign	1 lab	1723a018b7
7:47872687 PKD1L1 C>T	7	47872687	47872687	C	T	PKD1L1	c.6337+1G>A	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47872687C>T	VUS	1 lab	17261b0b0a
13:32915247 BRCA2 C>A	13	32915247	32915247	C	A	BRCA2	c.6755C>A	NM_000059.3	NP_000050.2:p.(Ser2252Tyr)	NC_000013.10:g.32915247C>A	(Likely) benign	1 lab	1728d9e4f2
10:89720805 PTEN CT>C	10	89720805	89720808	CT	C	PTEN	c.959del	NM_000314.8	NP_000305.3:p.(Leu320Ter)	NC_000010.10:g.89720808del	(Likely) pathogenic	1 lab	172cb2fbb9
1:63836701 ALG6 G>A	1	63836701	63836701	G	A	ALG6	c.53G>A	NM_013339.3	NP_037471.2:p.(Arg18Gln)	NC_000001.10:g.63836701G>A	VUS	1 lab	172ec0a69c
13:100635343 ZIC2 A>G	13	100635343	100635343	A	G	ZIC2	c.1025A>G	NM_007129.5	NP_009060.2:p.(Lys342Arg)	NC_000013.10:g.100635343A>G	VUS	1 lab	17311ca682
7:117232103 CFTR G>C	7	117232103	117232103	G	C	CFTR	c.1882G>C	NM_000492.3	NP_000483.3:p.(Gly628Arg)	NC_000007.13:g.117232103G>C	VUS	1 lab	17315a97e3
16:8900240 PMM2 C>T	16	8900240	8900240	C	T	PMM2	c.323C>T	NM_000303.2	NP_000294.1:p.(Ala108Val)	NC_000016.9:g.8900240C>T	(Likely) pathogenic	1 lab	1731da4b52
14:102460584 DYNC1H1 C>T	14	102460584	102460584	C	T	DYNC1H1	c.3079C>T	NM_001376.4	NP_001367.2:p.(Pro1027Ser)	NC_000014.8:g.102460584C>T	(Likely) benign	1 lab	17323b8330
X:100625066 BTK A>G	X	100625066	100625066	A	G	BTK	c.311T>C	NM_000061.2	NP_000052.1:p.(Val104Ala)	NC_000023.10:g.100625066A>G	(Likely) pathogenic	1 lab	018393a98e
17:18049320 MYO15A G>C	17	18049320	18049320	G	C	MYO15A	c.6408G>C	NM_016239.3	NP_057323.3:p.(Trp2136Cys)	NC_000017.10:g.18049320G>C	VUS	1 lab	1737aef09d
2:179487464 TTN G>C	2	179487464	179487464	G	C	TTN	c.44846C>G	NM_001267550.2	NP_001254479.2:p.(Thr14949Ser)	NC_000002.11:g.179487464G>C	VUS	1 lab	173add5f94
9:139407553 NOTCH1 G>A	9	139407553	139407553	G	A	NOTCH1	c.2387C>T	NM_017617.3	NP_060087.3:p.(Ala796Val)	NC_000009.11:g.139407553G>A	VUS	1 lab	173b188816
3:38798259 SCN10A G>A	3	38798259	38798259	G	A	SCN10A	c.1196C>T	NM_006514.4	NP_006505.4:p.(Ala399Val)	NC_000003.11:g.38798259G>A	VUS	1 lab	173bbdc7fd
5:37022159 NIPBL C>T	5	37022159	37022159	C	T	NIPBL	c.5335C>T	NM_133433.3	NP_597677.2:p.(Arg1779Ter)	NC_000005.9:g.37022159C>T	(Likely) pathogenic	1 lab	173d40e69b
6:10830850 MAK C>T	6	10830850	10830850	C	T	MAK	c.32G>A	NM_001242957.3	NP_001229886.1:p.(Gly11Glu)	NC_000006.11:g.10830850C>T	VUS	1 lab	173eab8351
16:68849585 CDH1 C>T	16	68849585	68849585	C	T	CDH1	c.1488C>T	NM_004360.4	NP_004351.1:p.(Ser496=)	NC_000016.9:g.68849585C>T	(Likely) benign	1 lab	1742392256
5:145557173 LARS1 T>C	5	145557173	145557173	T	C	LARS1	c.62A>G	NM_020117.11	NP_064502.9:p.(Gln21Arg)	NC_000005.9:g.145557173T>C	VUS	1 lab	1743cbbd9a
6:80877448 BCKDHB G>A	6	80877448	80877448	G	A	BCKDHB	c.397G>A	NM_183050.4	NP_898871.1:p.(Gly133Arg)	NC_000006.11:g.80877448G>A	(Likely) pathogenic	1 lab	1746cb24cc
19:17679316 MISSING A>C	19	17679316	17679316	A	C	MISSING				NC_000019.9:g.17679316A>C	(Likely) pathogenic	1 lab	174ca4a29a
7:150675039 KCNH2 C>CCCCGG	7	150675039	150675057	C	CCCCGG	KCNH2	c.-43_-39dup	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150675053_150675057dup	(Likely) benign	1 lab	174d50753a
5:176940479 DDX41 G>A	5	176940479	176940479	G	A	DDX41	c.1105C>T	NM_016222.4	NP_057306.2:p.(Arg369Ter)	NC_000005.9:g.176940479G>A	(Likely) pathogenic	1 lab	174d8de6da
1:160109788 ATP1A2 C>T	1	160109788	160109788	C	T	ATP1A2	c.3034+14C>T	NM_000702.3	NP_000693.1:p.?	NC_000001.10:g.160109788C>T	(Likely) benign	1 lab	174f0ba20a
7:94045719 COL1A2 G>A	7	94045719	94045719	G	A	COL1A2	c.1767G>A	NM_000089.3	NP_000080.2:p.(Gly589=)	NC_000007.13:g.94045719G>A	(Likely) benign	1 lab	0186ce423c
6:33626906 ITPR3 TG>T	6	33626906	33626912	TG	T	ITPR3	c.627+16del	NM_002224.4	NP_002215.2:p.?	NC_000006.11:g.33626912del	(Likely) benign	1 lab	0187ff459b
17:59938926 BRIP1 C>G	17	59938926	59938926	C	G	BRIP1	c.-26G>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59938926C>G	(Likely) benign	1 lab	1755b26ddc
2:227872831 COL4A4 G>T	2	227872831	227872831	G	T	COL4A4	c.4712C>A	NM_000092.5	NP_000083.3:p.(Ala1571Asp)	NC_000002.11:g.227872831G>T	VUS	1 lab	175a35c56b
14:23885364 MYH7 A>G	14	23885364	23885364	A	G	MYH7	c.4802T>C	NM_000257.3	NP_000248.2:p.(Leu1601Pro)	NC_000014.8:g.23885364A>G	VUS	1 lab	176050bc29
17:60033793 MED13 A>G	17	60033793	60033793	A	G	MED13	c.5530T>C	NM_005121.2	NP_005112.2:p.(Trp1844Arg)	NC_000017.10:g.60033793A>G	VUS	1 lab	1763a221d9
10:73501678 CDH23 G>A	10	73501678	73501678	G	A	CDH23	c.4845G>A	NM_022124.5	NP_071407.4:p.(Ser1615=)	NC_000010.10:g.73501678G>A	VUS	1 lab	17677c02b1
5:112174223 APC C>T	5	112174223	112174223	C	T	APC	c.2932C>T	NM_000038.5	NP_000029.2:p.(Gln978Ter)	NC_000005.9:g.112174223C>T	(Likely) pathogenic	1 lab	176f8e16c5
19:6848139 VAV1 C>G	19	6848139	6848139	C	G	VAV1	c.2129+14C>G	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6848139C>G	(Likely) benign	1 lab	01882b0daa
10:88635751 BMPR1A A>G	10	88635751	88635751	A	G	BMPR1A	c.-25A>G	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88635751A>G	(Likely) benign	1 lab	1770dd9c62
12:6184561 VWF C>T	12	6184561	6184561	C	T	VWF	c.814G>A	NM_000552.5	NP_000543.3:p.(Ala272Thr)	NC_000012.11:g.6184561C>T	VUS	1 lab	1772859880
2:1921022 MYT1L G>A	2	1921022	1921022	G	A	MYT1L	c.1573C>T	NM_001303052.2	NP_001289981.1:p.(Arg525Cys)	NC_000002.11:g.1921022G>A	VUS	1 lab	1773502aa6
1:209605636 MIR205HG TAGCAGCAGCAGCAGCAGC>T	1	209605636	209605676	TAGCAGCAGCAGCAGCAGC	T	MIR205HG	c.274_291del	NM_001104548.1	NP_001098018.1:p.(Ala92_Ala97del)	NC_000001.10:g.209605659_209605676del	VUS	1 lab	a8f8bcf5c5
6:7727468 BMP6 C>T	6	7727468	7727468	C	T	BMP6	c.280C>T	NM_001718.5	NP_001709.1:p.(Arg94Trp)	NC_000006.11:g.7727468C>T	VUS	1 lab	1774dc49e3
2:228159284 COL4A3 C>T	2	228159284	228159284	C	T	COL4A3	c.3416C>T	NM_000091.5	NP_000082.2:p.(Pro1139Leu)	NC_000002.11:g.228159284C>T	VUS	1 lab	17755cc2a1
2:167289249 SCN7A A>C	2	167289249	167289249	A	C	SCN7A	c.2171T>G	NM_002976.4	NP_002967.2:p.(Phe724Cys)	NC_000002.11:g.167289249A>C	VUS	1 lab	177858173d
22:19394706 HIRA C>G	22	19394706	19394706	C	G	HIRA	c.302+1G>C	NM_003325.3	NP_003316.3:p.?	NC_000022.10:g.19394706C>G	VUS	1 lab	1ac27ecfbb
11:2909450 SLC67A1-AS G>A	11	2909450	2909450	G	A	SLC67A1-AS	n.1054C>T	NR_169304.1		NC_000011.9:g.2909450G>A	(Likely) benign	1 lab	ac1af5c607
3:114070728 ZBTB20 G>C	3	114070728	114070728	G	C	ZBTB20	c.200-3C>G	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114070728G>C	(Likely) pathogenic	1 lab	177a24ea05
3:49158677 LAMB2 G>A	3	49158677	49158677	G	A	LAMB2	c.5379C>T	NM_002292.3	NP_002283.3:p.(Ile1793=)	NC_000003.11:g.49158677G>A	(Likely) benign	1 lab	177b41bbe9
2:167056302 SCN9A C>G	2	167056302	167056302	C	G	SCN9A	c.4814G>C	NM_002977.3	NP_002968.1:p.(Arg1605Thr)	NC_000002.11:g.167056302C>G	VUS	1 lab	177ba6eaaf
1:78398979 NEXN G>C	1	78398979	78398979	G	C	NEXN	c.1066G>C	NM_144573.3	NP_653174.3:p.(Asp356His)	NC_000001.10:g.78398979G>C	(Likely) benign	1 lab	177ef8c187
20:57428403 GNAS A>G	20	57428403	57428403	A	G	GNAS	c.-105A>G	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428403A>G	(Likely) benign	1 lab	a9075e72de
19:4110557 MAP2K2 A>G	19	4110557	4110557	A	G	MAP2K2	c.400T>C	NM_030662.3	NP_109587.1:p.(Tyr134His)	NC_000019.9:g.4110557A>G	(Likely) pathogenic	1 lab	177fd06847
11:47365114 MYBPC3 G>A	11	47365114	47365114	G	A	MYBPC3	c.1152C>T	NM_000256.3	NP_000247.2:p.(Thr384=)	NC_000011.9:g.47365114G>A	VUS	1 lab	17812cf0a5
1:176826778 ASTN1 G>A	1	176826778	176826778	G	A	ASTN1	c.3656C>T	NM_001286164.1	NP_001273093.1:p.(Ala1219Val)	NC_000001.10:g.176826778G>A	VUS	1 lab	a9c8e268cb
16:23632749 PALB2 A>C	16	23632749	23632749	A	C	PALB2	c.3047T>G	NM_024675.3	NP_078951.2:p.(Phe1016Cys)	NC_000016.9:g.23632749A>C	VUS	1 lab	17830e9fdc
5:178416105 GRM6 G>T	5	178416105	178416105	G	T	GRM6	c.1185C>A	NM_000843.3	NP_000834.2:p.(Tyr395Ter)	NC_000005.9:g.178416105G>T	(Likely) pathogenic	1 lab	1785595b72
1:151378493 POGZ C>T	1	151378493	151378493	C	T	POGZ	c.3018G>A	NM_015100.4	NP_055915.2:p.(Trp1006Ter)	NC_000001.10:g.151378493C>T	(Likely) pathogenic	1 lab	1785ad19de
15:48527095 SLC12A1 T>C	15	48527095	48527095	T	C	SLC12A1	c.1109T>C	NM_000338.2	NP_000329.2:p.(Phe370Ser)	NC_000015.9:g.48527095T>C	VUS	1 lab	1788fba9ee
4:114274988 ANK2 T>G	4	114274988	114274988	T	G	ANK2	c.5214T>G	NM_001148.5	NP_001139.3:p.(Gly1738=)	NC_000004.11:g.114274988T>G	(Likely) benign	1 lab	178afab5dd
19:36322264 NPHS1 C>T	19	36322264	36322264	C	T	NPHS1	c.3321G>A	NM_004646.3	NP_004637.1:p.(Glu1107=)	NC_000019.9:g.36322264C>T	(Likely) benign	1 lab	01895ca2ea
16:75748334 CPHXL T>C	16	75748334	75748334	T	C	CPHXL	c.1006A>G	NM_001355613.1	NP_001342542.1:p.(Met336Val)	NC_000016.9:g.75748334T>C	(Likely) benign	1 lab	17912b1572
X:129274584 AIFM1 C>G	X	129274584	129274584	C	G	AIFM1	c.705G>C	NM_004208.4	NP_004199.1:p.(Gln235His)	NC_000023.10:g.129274584C>G	VUS	1 lab	1796489548
17:18022457 MYO15A C>G	17	18022457	18022457	C	G	MYO15A	c.343C>G	NM_016239.3	NP_057323.3:p.(Arg115Gly)	NC_000017.10:g.18022457C>G	VUS	1 lab	1799d96d29
2:167149754 SCN9A T>C	2	167149754	167149754	T	C	SCN9A	c.1094A>G	NM_002977.3	NP_002968.1:p.(Asn365Ser)	NC_000002.11:g.167149754T>C	VUS	1 lab	179c12f61d
11:118375304 KMT2A A>G	11	118375304	118375304	A	G	KMT2A	c.8697A>G	NM_001197104.1	NP_001184033.1:p.(Val2899=)	NC_000011.9:g.118375304A>G	(Likely) benign	1 lab	018ca5ae4c
17:18054453 MYO15A G>A	17	18054453	18054453	G	A	MYO15A	c.7503G>A	NM_016239.3	NP_057323.3:p.(Thr2501=)	NC_000017.10:g.18054453G>A	(Likely) benign	1 lab	17a29eb0ad
20:43255242 ADA T>C	20	43255242	43255242	T	C	ADA	c.219-2A>G	NM_000022.4	NP_000013.2:p.?	NC_000020.10:g.43255242T>C	(Likely) pathogenic	1 lab	17a51f990e
16:15815312 MYH11 G>A	16	15815312	15815312	G	A	MYH11	c.4566C>T	NM_001040114.1	NP_001035203.1:p.(Asp1522=)	NC_000016.9:g.15815312G>A	(Likely) benign	1 lab	17a5cd2826
5:1878566 IRX4 C>T	5	1878566	1878566	C	T	IRX4	c.1155G>A	NM_001278633.1	NP_001265562.1:p.(Ser385=)	NC_000005.9:g.1878566C>T	(Likely) benign	1 lab	17b644048a
19:7712039 STXBP2 G>A	19	7712039	7712039	G	A	STXBP2	c.1453-9G>A	NM_006949.3	NP_008880.2:p.?	NC_000019.9:g.7712039G>A	VUS	1 lab	17b90970d7
4:5624557 EVC2 G>T	4	5624557	5624557	G	T	EVC2	c.2208C>A	NM_147127.5	NP_667338.3:p.(Leu736=)	NC_000004.11:g.5624557G>T	(Likely) benign	1 lab	018f9077f5
1:152280995 FLG G>A	1	152280995	152280995	G	A	FLG	c.6367C>T	NM_002016.2	NP_002007.1:p.(Gln2123Ter)	NC_000001.10:g.152280995G>A	(Likely) pathogenic	1 lab	17be5278aa
12:80717557 OTOGL G>A	12	80717557	80717557	G	A	OTOGL	c.4109G>A	NM_173591.3	NP_775862.3:p.(Cys1370Tyr)	NC_000012.11:g.80717557G>A	VUS	1 lab	17c1b3e8cc
18:19426929 MIB1 G>C	18	19426929	19426929	G	C	MIB1	c.2236G>C	NM_020774.3	NP_065825.1:p.(Gly746Arg)	NC_000018.9:g.19426929G>C	VUS	1 lab	17c1ca73bf
17:18042882 MYO15A T>A	17	18042882	18042882	T	A	MYO15A	c.5168T>A	NM_016239.3	NP_057323.3:p.(Val1723Glu)	NC_000017.10:g.18042882T>A	VUS	1 lab	17c28698b8
2:179410318 TTN C>T	2	179410318	179410318	C	T	TTN	c.95519G>A	NM_001267550.2	NP_001254479.2:p.(Ser31840Asn)	NC_000002.11:g.179410318C>T	(Likely) benign	1 lab	17c4dae67b
13:32890603 BRCA2 T>C	13	32890603	32890603	T	C	BRCA2	c.6T>C	NM_000059.3	NP_000050.2:p.(Pro2=)	NC_000013.10:g.32890603T>C	(Likely) benign	1 lab	17c5beae12
22:37471316 TMPRSS6 A>G	22	37471316	37471316	A	G	TMPRSS6	c.1228T>C	NM_153609.3	NP_705837.1:p.(Cys410Arg)	NC_000022.10:g.37471316A>G	(Likely) pathogenic	1 lab	17c8da0bf6
20:62121919 EEF1A2 G>T	20	62121919	62121919	G	T	EEF1A2				NC_000020.10:g.62121919G>T	(Likely) pathogenic	1 lab	fc5b4be3a2
17:29552137 NF1 TTTCTCCTTTTTTACGGG>T	17	29552137	29552154	TTTCTCCTTTTTTACGGG	T	NF1	c.1871_1887del	NM_000267.3	NP_000258.1:p.(Phe624CysfsTer4)	NC_000017.10:g.29552138_29552154del	(Likely) pathogenic	1 lab	17cca56821
2:47630356 MSH2 T>C	2	47630356	47630356	T	C	MSH2				NC_000002.11:g.47630356T>C	(Likely) benign	1 lab	17ce616a56
19:41897789 EXOSC5 G>A	19	41897789	41897789	G	A	EXOSC5	c.341C>T	NM_020158.3	NP_064543.3:p.(Thr114Ile)	NC_000019.9:g.41897789G>A	(Likely) pathogenic	1 lab	17d1076593
5:112174826 APC T>C	5	112174826	112174826	T	C	APC	c.3535T>C	NM_000038.5	NP_000029.2:p.(Tyr1179His)	NC_000005.9:g.112174826T>C	VUS	1 lab	17d5fe3d73
19:50766664 MYH14 G>A	19	50766664	50766664	G	A	MYH14	c.2681G>A	NM_001145809.2	NP_001139281.1:p.(Arg894Gln)	NC_000019.9:g.50766664G>A	VUS	1 lab	17d66c64f4
10:88446818 LDB3 T>TC	10	88446818	88446823	T	TC	LDB3	c.345-3dup	NM_001080116.1	NP_001073585.1:p.?	NC_000010.10:g.88446823dup	(Likely) benign	1 lab	17d9f0c537
9:136291361 ADAMTS13 C>T	9	136291361	136291361	C	T	ADAMTS13	c.582C>T	NM_139027.6	NP_620596.2:p.(Gly194=)	NC_000009.11:g.136291361C>T	(Likely) benign	1 lab	17db0ed4fe
16:89598919 SPG7 G>A	16	89598919	89598919	G	A	SPG7	c.1199G>A	NM_003119.4	NP_003110.1:p.(Arg400Gln)	NC_000016.9:g.89598919G>A	VUS	1 lab	17dc526835
9:98232172 PTCH1 GAGC>G	9	98232172	98232177	GAGC	G	PTCH1	c.1767_1769del	NM_000264.3	NP_000255.2:p.(Leu590del)	NC_000009.11:g.98232175_98232177del	(Likely) pathogenic	1 lab	17dcefda4c
21:43803278 TMPRSS3 G>A	21	43803278	43803278	G	A	TMPRSS3	c.646C>T	NM_024022.2	NP_076927.1:p.(Arg216Cys)	NC_000021.8:g.43803278G>A	(Likely) pathogenic	1 lab	17dd492fec
2:167330788 SCN7A A>T	2	167330788	167330788	A	T	SCN7A	c.301T>A	NM_002976.4	NP_002967.2:p.(Leu101Met)	NC_000002.11:g.167330788A>T	(Likely) benign	1 lab	17ddd8a4e2
16:89616940 SPG7 C>T	16	89616940	89616940	C	T	SPG7	c.1702C>T	NM_003119.3	NP_003110.1:p.(Gln568Ter)	NC_000016.9:g.89616940C>T	(Likely) pathogenic	1 lab	17ded4a6b8
1:16475259 EPHA2 G>A	1	16475259	16475259	G	A	EPHA2	c.437C>T	NM_004431.5	NP_004422.2:p.(Ala146Val)	NC_000001.10:g.16475259G>A	VUS	1 lab	17e02cc1ff
2:25463248 DNMT3A G>A	2	25463248	25463248	G	A	DNMT3A	c.2245C>T	NM_022552.4	NP_072046.2:p.(Arg749Cys)	NC_000002.11:g.25463248G>A	(Likely) pathogenic	1 lab	17e0add136
22:36715566 MYH9 G>A	22	36715566	36715566	G	A	MYH9	c.1108+19C>T	NM_002473.4	NP_002464.1:p.?	NC_000022.10:g.36715566G>A	(Likely) benign	1 lab	17e2585957
16:56938134 SLC12A3 C>T	16	56938134	56938134	C	T	SLC12A3	c.2884-173C>T	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56938134C>T	(Likely) benign	1 lab	019200b941
X:73962438 NEXMIF G>A	X	73962438	73962438	G	A	NEXMIF	c.1954C>T	NM_001008537.2	NP_001008537.1:p.(Gln652Ter)	NC_000023.10:g.73962438G>A	(Likely) pathogenic	1 lab	17e33d75c0
1:201336984 TNNT2 C>T	1	201336984	201336984	C	T	TNNT2	c.134-50G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201336984C>T	(Likely) benign	1 lab	17e35089cd
9:104184181 ALDOB G>C	9	104184181	104184181	G	C	ALDOB	c.1005C>G	NM_000035.3	NP_000026.2:p.(Asn335Lys)	NC_000009.11:g.104184181G>C	(Likely) pathogenic	1 lab	17e72dac75
10:72358459 PRF1 C>T	10	72358459	72358459	C	T	PRF1				NC_000010.10:g.72358459C>T	(Likely) pathogenic	1 lab	17e7366400
16:3296616 MEFV C>T	16	3296616	3296616	C	T	MEFV	c.1588-69G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296616C>T	(Likely) benign	1 lab	019414b2b4
6:7542241 DSP C>T	6	7542241	7542241	C	T	DSP	c.93C>T	NM_004415.2	NP_004406.2:p.(Thr31=)	NC_000006.11:g.7542241C>T	VUS	1 lab	737e469b1c
20:62044894 KCNQ2 T>C	20	62044894	62044894	T	C	KCNQ2	c.1672A>G	NM_172107.2	NP_742105.1:p.(Ser558Gly)	NC_000020.10:g.62044894T>C	VUS	1 lab	17ea811782
14:53619681 DDHD1 C>T	14	53619681	53619681	C	T	DDHD1	c.136G>A	NM_001160148.1	NP_001153620.1:p.(Gly46Ser)	NC_000014.8:g.53619681C>T	(Likely) benign	1 lab	17eb515aa2
12:110019299 MVK CCTGA>C	12	110019299	110019306	CCTGA	C	MVK	c.475_478del	NM_000431.4	NP_000422.1:p.(Thr159CysfsTer9)	NC_000012.11:g.110019303_110019306del	(Likely) pathogenic	1 lab	01951fa87a
4:3475340 DOK7 G>A	4	3475340	3475340	G	A	DOK7	c.308G>A	NM_173660.4	NP_775931.3:p.(Arg103Gln)	NC_000004.11:g.3475340G>A	VUS	1 lab	17f2745582
13:32911061 BRCA2 C>A	13	32911061	32911061	C	A	BRCA2	c.2569C>A	NM_000059.3	NP_000050.2:p.(Leu857Ile)	NC_000013.10:g.32911061C>A	(Likely) benign	1 lab	17f36656ab
X:49099351 CCDC22 G>C	X	49099351	49099351	G	C	CCDC22	c.362-1G>C	NM_014008.4	NP_054727.1:p.?	NC_000023.10:g.49099351G>C	VUS	1 lab	17f512b1f4
17:33433505 RAD51D A>C	17	33433505	33433505	A	C	RAD51D	c.481-5T>G	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33433505A>C	VUS	1 lab	17f5338c69
20:57478731 GNAS T>C	20	57478731	57478731	T	C	GNAS	c.317T>C	NM_000516.5	NP_000507.1:p.(Ile106Thr)	NC_000020.10:g.57478731T>C	VUS	1 lab	17f6af6f4a
5:172660112 NKX2-5 G>C	5	172660112	172660112	G	C	NKX2-5	c.435C>G	NM_004387.3	NP_004378.1:p.(Phe145Leu)	NC_000005.9:g.172660112G>C	(Likely) pathogenic	1 lab	17f8cf1f4b
13:113768160 F7 G>C	13	113768160	113768160	G	C	F7	c.317-1G>C	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113768160G>C	(Likely) pathogenic	1 lab	17fc68c0af
13:32944702 BRCA2 G>A	13	32944702	32944702	G	A	BRCA2	c.8487+8G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944702G>A	(Likely) benign	1 lab	1800245d68
11:76925663 MYO7A G>A	11	76925663	76925663	G	A	MYO7A	c.6570G>A	NM_000260.3	NP_000251.3:p.(Met2190Ile)	NC_000011.9:g.76925663G>A	VUS	1 lab	1804ac6c39
18:52937056 TCF4 A>C	18	52937056	52937056	A	C	TCF4				NC_000018.9:g.52937056A>C	(Likely) pathogenic	1 lab	18090d8cc2
1:39549929 MACF1 A>ATGTCGGAGTGAGCGGTCT	1	39549929	39549961	A	ATGTCGGAGTGAGCGGTCT	MACF1	c.54_71dup	NM_012090.4	NP_036222.3:p.(Cys20_Ser25dup)	NC_000001.10:g.39549944_39549961dup	(Likely) benign	1 lab	a9db02ad00
2:121746847 GLI2 C>T	2	121746847	121746847	C	T	GLI2	c.3357C>T	NM_005270.4	NP_005261.2:p.(Pro1119=)	NC_000002.11:g.121746847C>T	(Likely) benign	1 lab	180b7e1c70
12:117922270 KSR2 T>G	12	117922270	117922270	T	G	KSR2	c.2401A>C	NM_173598.6	NP_775869.4:p.(Ile801Leu)	NC_000012.11:g.117922270T>G	VUS	1 lab	180bc2addb
X:77254131 MISSING C>G	X	77254131	77254131	C	G	MISSING				NC_000023.10:g.77254131C>G	(Likely) benign	1 lab	180dfabab1
7:91669978 AKAP9 A>T	7	91669978	91669978	A	T	AKAP9	c.4693-10A>T	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91669978A>T	(Likely) benign	1 lab	180e41d1c6
4:3502430 DOK7 TCCCTCTACG>T	4	3502430	3502442	TCCCTCTACG	T	DOK7	c.1709_1717del	NM_001301071.1	NP_001288000.1:p.(Leu570_Ala572del)	NC_000004.11:g.3502434_3502442del	VUS	1 lab	aa17a821cf
19:18245432 MAST3 G>A	19	18245432	18245432	G	A	MAST3	c.1615G>A	NM_001393504.1	NP_001380433.1:p.(Gly539Ser)	NC_000019.9:g.18245432G>A	(Likely) pathogenic	1 lab	1819ea0ded
20:57429717 GNAS A>AC	20	57429717	57429718	A	AC	GNAS	c.1210_1211insC	NM_001077490.1	NP_001070958.1:p.(Met404ThrfsTer573)	NC_000020.10:g.57429717_57429718insC	VUS	1 lab	aa806665c9
15:73616286 HCN4 C>T	15	73616286	73616286	C	T	HCN4	c.2148G>A	NM_005477.2	NP_005468.1:p.(Lys716=)	NC_000015.9:g.73616286C>T	(Likely) benign	1 lab	181d107f0c
8:61734602 CHD7 A>T	8	61734602	61734602	A	T	CHD7	c.2855A>T	NM_017780.4	NP_060250.2:p.(Asp952Val)	NC_000008.10:g.61734602A>T	(Likely) benign	1 lab	181d832825
X:46495034 SLC9A7 G>A	X	46495034	46495034	G	A	SLC9A7	c.1666C>T	NM_001257291.2	NP_001244220.1:p.(Gln556Ter)	NC_000023.10:g.46495034G>A	VUS	1 lab	181f2a1ac4
16:89346246 ANKRD11 G>A	16	89346246	89346246	G	A	ANKRD11	c.6704C>T	NM_001256183.1	NP_001243112.1:p.(Pro2235Leu)	NC_000016.9:g.89346246G>A	VUS	1 lab	181ffaf679
1:24124208 GALE G>A	1	24124208	24124208	G	A	GALE	c.505C>T	NM_001008216.2	NP_001008217.1:p.(Arg169Trp)	NC_000001.10:g.24124208G>A	(Likely) pathogenic	1 lab	18260ca7fb
6:3089797 RIPK1 T>C	6	3089797	3089797	T	C	RIPK1	c.839-18T>C	NM_003804.6	NP_003795.2:p.?	NC_000006.11:g.3089797T>C	(Likely) benign	1 lab	0195264ff0
1:152277345 FLG C>T	1	152277345	152277345	C	T	FLG	c.10017G>A	NM_002016.1	NP_002007.1:p.(Gln3339=)	NC_000001.10:g.152277345C>T	(Likely) benign	1 lab	182b9ed391
20:16336985 KIF16B A>C	20	16336985	16336985	A	C	KIF16B	c.3611T>G	NM_024704.4	NP_078980.3:p.(Phe1204Cys)	NC_000020.10:g.16336985A>C	(Likely) pathogenic	1 lab	182d2201af
17:7565336 TP53 AAG>A	17	7565336	7565351	AAG	A	TP53				NC_000017.10:g.7565350_7565351del	(Likely) benign	1 lab	182dc50765
6:64694257 EYS TCAGGAGACTAATACTGACCTGATG>T	6	64694257	64694285	TCAGGAGACTAATACTGACCTGATG	T	EYS	c.7050_7055+18del	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.64694262_64694285del	(Likely) pathogenic	1 lab	182dd9c597
17:29528484 NF1 T>G	17	29528484	29528484	T	G	NF1	c.1241T>G	NM_000267.3	NP_000258.1:p.(Leu414Arg)	NC_000017.10:g.29528484T>G	VUS	1 lab	182eeb0830
14:21792807 RPGRIP1 G>A	14	21792807	21792807	G	A	RPGRIP1	c.1793G>A	NM_020366.3	NP_065099.3:p.(Arg598Gln)	NC_000014.8:g.21792807G>A	(Likely) benign	1 lab	1838e3e456
17:29528088 NF1 A>T	17	29528088	29528088	A	T	NF1	c.1096A>T	NM_001042492.3	NP_001035957.1:p.(Arg366Ter)	NC_000017.10:g.29528088A>T	(Likely) pathogenic	1 lab	183a844791
4:41265310 UCHL1 T>C	4	41265310	41265310	T	C	UCHL1	c.526+2T>C	NM_004181.5	NP_004172.2:p.?	NC_000004.11:g.41265310T>C	(Likely) pathogenic	1 lab	183b7194ea
11:121016682 TECTA C>T	11	121016682	121016682	C	T	TECTA				NC_000011.9:g.121016682C>T	VUS	1 lab	183c8f3973
2:167289162 SCN7A GC>G	2	167289162	167289164	GC	G	SCN7A	c.2257del	NM_002976.3	NP_002967.2:p.(Ala753GlnfsTer7)	NC_000002.11:g.167289164del	VUS	1 lab	18429790a2
2:240111556 HDAC4 G>A	2	240111556	240111556	G	A	HDAC4	c.312C>T	NM_006037.3	NP_006028.2:p.(His104=)	NC_000002.11:g.240111556G>A	(Likely) benign	1 lab	18430f918e
19:50341846 MED25 G>A	19	50341846	50341846	G	A	MED25	c.2156G>A	NM_001378355.1	NP_001365284.1:p.(Arg719Gln)	NC_000019.9:g.50341846G>A	VUS	1 lab	aabd513af8
5:149264106 PDE6A G>A	5	149264106	149264106	G	A	PDE6A	c.1963C>T	NM_000440.2	NP_000431.2:p.(His655Tyr)	NC_000005.9:g.149264106G>A	(Likely) benign	1 lab	184382f704
3:69168313 LMOD3 C>T	3	69168313	69168313	C	T	LMOD3	c.1193G>A	NM_001304418.1	NP_001291347.1:p.(Arg398Lys)	NC_000003.11:g.69168313C>T	VUS	1 lab	1847829642
16:72831936 ZFHX3 C>T	16	72831936	72831936	C	T	ZFHX3	c.4645G>A	NM_006885.3	NP_008816.3:p.(Val1549Ile)	NC_000016.9:g.72831936C>T	VUS	1 lab	1848b6a651
5:147813280 FBXO38 C>G	5	147813280	147813280	C	G	FBXO38	c.2612C>G	NM_030793.5	NP_110420.3:p.(Pro871Arg)	NC_000005.9:g.147813280C>G	VUS	1 lab	18495aefd8
3:37061931 MLH1 TC>T	3	37061931	37061933	TC	T	MLH1	c.1017del	NM_000249.3	NP_000240.1:p.(Ser340ProfsTer27)	NC_000003.11:g.37061933del	(Likely) pathogenic	1 lab	184a430d9e
11:2909513 SLC67A1-AS C>T	11	2909513	2909513	C	T	SLC67A1-AS	n.991G>A	NR_169304.1		NC_000011.9:g.2909513C>T	VUS	1 lab	abb2be569a
11:76866992 MYO7A C>T	11	76866992	76866992	C	T	MYO7A	c.325C>T	NM_000260.3	NP_000251.3:p.(Gln109Ter)	NC_000011.9:g.76866992C>T	(Likely) pathogenic	1 lab	184b11762a
12:133253133 POLE T>C	12	133253133	133253133	T	C	POLE	c.908A>G	NM_006231.3	NP_006222.2:p.(Gln303Arg)	NC_000012.11:g.133253133T>C	VUS	1 lab	184b34837f
11:126318921 KIRREL3 C>T	11	126318921	126318921	C	T	KIRREL3	c.980G>A	NM_032531.3	NP_115920.1:p.(Arg327His)	NC_000011.9:g.126318921C>T	(Likely) benign	1 lab	18510b4476
16:23646485 PALB2 C>G	16	23646485	23646485	C	G	PALB2	c.1382G>C	NM_024675.3	NP_078951.2:p.(Ser461Thr)	NC_000016.9:g.23646485C>G	(Likely) benign	1 lab	18519d78cb
1:33246689 YARS1 C>T	1	33246689	33246689	C	T	YARS1	c.1100G>A	NM_003680.3	NP_003671.1:p.(Arg367Gln)	NC_000001.10:g.33246689C>T	VUS	1 lab	1853e55b62
19:10887841 DNM2 G>T	19	10887841	10887841	G	T	DNM2	c.637G>T	NM_001005360.2	NP_001005360.1:p.(Gly213Cys)	NC_000019.9:g.10887841G>T	VUS	1 lab	1856d4ad54
2:220437274 INHA C>T	2	220437274	220437274	C	T	INHA	c.178C>T	NM_002191.3	NP_002182.1:p.(Arg60Ter)	NC_000002.11:g.220437274C>T	(Likely) pathogenic	1 lab	1856e80b3e
14:64516462 SYNE2 T>G	14	64516462	64516462	T	G	SYNE2	c.7511T>G	NM_182914.2	NP_878918.2:p.(Leu2504Trp)	NC_000014.8:g.64516462T>G	(Likely) benign	1 lab	18574bbd97
14:21875193 CHD8 T>C	14	21875193	21875193	T	C	CHD8	c.2731-2A>G	NM_001170629.1	NP_001164100.1:p.?	NC_000014.8:g.21875193T>C	(Likely) pathogenic	1 lab	1857fdf7cc
9:6595108 GLDC C>G	9	6595108	6595108	C	G	GLDC	c.1167G>C	NM_000170.2	NP_000161.2:p.(Ala389=)	NC_000009.11:g.6595108C>G	(Likely) benign	1 lab	019a970b66
5:112128183 APC TTCGTA>T	5	112128183	112128189	TTCGTA	T	APC	c.688_692del	NM_000038.6	NP_000029.2:p.(Arg230ThrfsTer20)	NC_000005.9:g.112128185_112128189del	(Likely) pathogenic	1 lab	185ad3f26f
17:27834989 TAOK1 C>T	17	27834989	27834989	C	T	TAOK1	c.1414C>T	NM_020791.4	NP_065842.1:p.(Arg472Ter)	NC_000017.10:g.27834989C>T	(Likely) pathogenic	1 lab	185ae09883
4:1803317 FGFR3 G>A	4	1803317	1803317	G	A	FGFR3	c.616-30G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1803317G>A	(Likely) benign	1 lab	185b2e566a
4:47939078 CNGA1 C>T	4	47939078	47939078	C	T	CNGA1	c.1640G>A	NM_001142564.1	NP_001136036.1:p.(Arg547His)	NC_000004.11:g.47939078C>T	VUS	1 lab	185e5ad384
4:149035254 NR3C2 C>T	4	149035254	149035254	C	T	NR3C2	c.2799+1G>A	NM_000901.4	NP_000892.2:p.?	NC_000004.11:g.149035254C>T	(Likely) pathogenic	1 lab	185f735eeb
13:100634255 ZIC2 C>G	13	100634255	100634255	C	G	ZIC2	c.-64C>G	NM_007129.3	NP_009060.2:p.?	NC_000013.10:g.100634255C>G	VUS	1 lab	18615c0485
8:145016578 PLEC G>T	8	145016578	145016578	G	T	PLEC	c.194-3718C>A	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145016578G>T	VUS	1 lab	abc4f49aeb
17:7576997 TP53 G>A	17	7576997	7576997	G	A	TP53	c.919+22C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7576997G>A	(Likely) benign	1 lab	186550891c
16:9892212 GRIN2A C>T	16	9892212	9892212	C	T	GRIN2A	c.2278G>A	NM_001134407.3	NP_001127879.1:p.(Gly760Ser)	NC_000016.9:g.9892212C>T	(Likely) pathogenic	1 lab	1865d443dd
1:11854395 MTHFR C>T	1	11854395	11854395	C	T	MTHFR	c.1347+20G>A	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11854395C>T	(Likely) benign	1 lab	18669f7aaf
X:140335706 SPANXC G>C	X	140335706	140335706	G	C	SPANXC	c.238C>G	NM_022661.2	NP_073152.1:p.(Leu80Val)	NC_000023.10:g.140335706G>C	VUS	1 lab	abe3bd40c4
18:60052231 TNFRSF11A G>A	18	60052231	60052231	G	A	TNFRSF11A	c.1773G>A	NM_001278268.2	NP_001265197.1:p.(Ser591=)	NC_000018.9:g.60052231G>A	(Likely) benign	1 lab	019d5256f7
10:89726931 PTEN G>A	10	89726931	89726931	G	A	PTEN	c.*1702G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89726931G>A	(Likely) benign	1 lab	1869d315cc
19:38948905 RYR1 G>A	19	38948905	38948905	G	A	RYR1	c.2140G>A	NM_000540.2	NP_000531.2:p.(Gly714Ser)	NC_000019.9:g.38948905G>A	VUS	1 lab	186a518278
5:112175787 APC GA>G	5	112175787	112175788	GA	G	APC	c.4497del	NM_000038.6	NP_000029.2:p.(Ser1501LeufsTer6)	NC_000005.9:g.112175788del	(Likely) pathogenic	1 lab	186bb91f70
16:89839745 FANCA G>C	16	89839745	89839745	G	C	FANCA	c.1948C>G	NM_000135.4	NP_000126.2:p.(Leu650Val)	NC_000016.9:g.89839745G>C	(Likely) benign	1 lab	186df3db19
17:65960521 BPTF G>A	17	65960521	65960521	G	A	BPTF	c.8454+1G>A	NM_182641.3	NP_872579.2:p.?	NC_000017.10:g.65960521G>A	VUS	1 lab	1871afbac3
3:120360507 HGD C>T	3	120360507	120360507	C	T	HGD	c.808G>A	NM_000187.4	NP_000178.2:p.(Gly270Arg)	NC_000003.11:g.120360507C>T	(Likely) pathogenic	1 lab	1871c6b358
1:216390728 USH2A C>T	1	216390728	216390728	C	T	USH2A	c.3157+1G>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216390728C>T	(Likely) pathogenic	1 lab	1878f7e417
10:126100738 OAT C>T	10	126100738	126100738	C	T	OAT	c.3G>A	NM_000274.3	NP_000265.1:p.(Met1?)	NC_000010.10:g.126100738C>T	(Likely) pathogenic	1 lab	187ae44bec
7:107336493 SLC26A4 C>G	7	107336493	107336493	C	G	SLC26A4	c.1544+9C>G	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107336493C>G	VUS	1 lab	187b629ac1
22:21342301 LZTR1 G>T	22	21342301	21342301	G	T	LZTR1	c.403G>T	NM_006767.4	NP_006758.2:p.(Gly135Cys)	NC_000022.10:g.21342301G>T	(Likely) pathogenic	1 lab	187dfe2d1f
15:60795784 RORA T>G	15	60795784	60795784	T	G	RORA	c.1025A>C	NM_134261.3	NP_599023.1:p.(Asp342Ala)	NC_000015.9:g.60795784T>G	VUS	1 lab	01f3c29eda
19:15298089 NOTCH3 T>C	19	15298089	15298089	T	C	NOTCH3	c.1667A>G	NM_000435.2	NP_000426.2:p.(His556Arg)	NC_000019.9:g.15298089T>C	VUS	1 lab	1883cbc608
7:140501294 BRAF G>C	7	140501294	140501294	G	C	BRAF	c.778C>G	NM_004333.4	NP_004324.2:p.(Arg260Gly)	NC_000007.13:g.140501294G>C	VUS	1 lab	18889a9878
11:118372478 KMT2A T>A	11	118372478	118372478	T	A	KMT2A	c.6411T>A	NM_001197104.1	NP_001184033.1:p.(Cys2137Ter)	NC_000011.9:g.118372478T>A	(Likely) pathogenic	1 lab	18894a40d7
3:37058994 MLH1 T>G	3	37058994	37058994	T	G	MLH1	c.791-3T>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37058994T>G	VUS	1 lab	1889ac3757
5:112162834 APC C>T	5	112162834	112162834	C	T	APC	c.1438C>T	NM_000038.6	NP_000029.2:p.(Gln480Ter)	NC_000005.9:g.112162834C>T	(Likely) pathogenic	1 lab	188c72e956
11:47357427 MYBPC3 C>G	11	47357427	47357427	C	G	MYBPC3	c.2737+1G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357427C>G	(Likely) pathogenic	1 lab	188cc20a36
13:20763602 GJB2 G>C	13	20763602	20763602	G	C	GJB2	c.119C>G	NM_004004.5	NP_003995.2:p.(Ala40Gly)	NC_000013.10:g.20763602G>C	(Likely) pathogenic	1 lab	188d77af91
12:57407142 TAC3 C>G	12	57407142	57407142	C	G	TAC3	c.238+1G>C	NM_013251.3	NP_037383.1:p.?	NC_000012.11:g.57407142C>G	(Likely) pathogenic	1 lab	188dc0308e
3:52439833 BAP1 C>T	3	52439833	52439833	C	T	BAP1	c.879G>A	NM_004656.3	NP_004647.1:p.(Pro293=)	NC_000003.11:g.52439833C>T	(Likely) benign	1 lab	1890ee1093
1:94544977 ABCA4 A>T	1	94544977	94544977	A	T	ABCA4	c.1140T>A	NM_000350.2	NP_000341.2:p.(Asn380Lys)	NC_000001.10:g.94544977A>T	(Likely) benign	1 lab	18921d83aa
15:89392759 ACAN C>T	15	89392759	89392759	C	T	ACAN				NC_000015.9:g.89392759C>T	VUS	1 lab	1b5687671d
2:54876324 SPTBN1 C>CA	2	54876324	54876325	C	CA	SPTBN1	c.5200dup	NM_003128.3	NP_003119.2:p.(Thr1734AsnfsTer31)	NC_000002.11:g.54876325dup	VUS	1 lab	18964c558e
14:65507574 MAX C>T	14	65507574	65507574	C	T	MAX				NC_000014.8:g.65507574C>T	(Likely) benign	1 lab	fcef7eb7d6
11:108128393 ATM C>A	11	108128393	108128393	C	A	ATM	c.2376+60C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108128393C>A	(Likely) benign	1 lab	18967bec8a
11:47363284 MYBPC3 C>T	11	47363284	47363284	C	T	MYBPC3	c.1790+258G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363284C>T	(Likely) benign	1 lab	18987a2afd
20:42741153 JPH2 G>A	20	42741153	42741153	G	A	JPH2	c.*1005C>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42741153G>A	(Likely) benign	1 lab	1898adf4da
13:23905354 SACS G>C	13	23905354	23905354	G	C	SACS	c.12661C>G	NM_014363.5	NP_055178.3:p.(Leu4221Val)	NC_000013.10:g.23905354G>C	VUS	1 lab	189afec9e2
9:101911523 TGFBR1 T>C	9	101911523	101911523	T	C	TGFBR1	c.1448T>C	NM_004612.2	NP_004603.1:p.(Leu483Pro)	NC_000009.11:g.101911523T>C	(Likely) pathogenic	1 lab	189f9eaf86
7:94285300 SGCE A>C	7	94285300	94285300	A	C	SGCE	c.109+2T>G	NM_001099401.2	NP_001092871.1:p.?	NC_000007.13:g.94285300A>C	(Likely) pathogenic	1 lab	18a09800f2
12:100790128 SLC17A8 C>G	12	100790128	100790128	C	G	SLC17A8				NC_000012.11:g.100790128C>G	VUS	1 lab	18a2888f6e
17:60650622 MISSING C>G	17	60650622	60650622	C	G	MISSING				NC_000017.10:g.60650622C>G	(Likely) pathogenic	1 lab	18a499dd35
1:103347308 COL11A1 G>A	1	103347308	103347308	G	A	COL11A1	c.4985C>T	NM_001854.4	NP_001845.3:p.(Ser1662Leu)	NC_000001.10:g.103347308G>A	VUS	1 lab	18a71ff69e
13:32929358 BRCA2 G>A	13	32929358	32929358	G	A	BRCA2	c.7368G>A	NM_000059.3	NP_000050.2:p.(Gln2456=)	NC_000013.10:g.32929358G>A	(Likely) benign	1 lab	18a8190092
11:2909582 SLC67A1-AS G>T	11	2909582	2909582	G	T	SLC67A1-AS	n.922C>A	NR_169304.1		NC_000011.9:g.2909582G>T	(Likely) benign	1 lab	ac1a91bbf6
12:98909696 TMPO G>A	12	98909696	98909696	G	A	TMPO	c.51G>A	NM_003276.2	NP_003267.1:p.(Lys17=)	NC_000012.11:g.98909696G>A	(Likely) benign	1 lab	18a95d5817
1:151380626 POGZ C>CA	1	151380626	151380627	C	CA	POGZ	c.2324dup	NM_015100.4	NP_055915.2:p.(Cys776ValfsTer4)	NC_000001.10:g.151380627dup	(Likely) pathogenic	1 lab	18b24886df
2:189861204 COL3A1 C>T	2	189861204	189861204	C	T	COL3A1	c.1743C>T	NM_000090.3	NP_000081.1:p.(Pro581=)	NC_000002.11:g.189861204C>T	(Likely) benign	1 lab	019e8d15a9
1:41285556 KCNQ4 A>G	1	41285556	41285556	A	G	KCNQ4	c.844A>G	NM_004700.3	NP_004691.2:p.(Thr282Ala)	NC_000001.10:g.41285556A>G	(Likely) benign	1 lab	18b367c0d0
X:153993737 DKC1 G>A	X	153993737	153993737	G	A	DKC1	c.103G>A	NM_001363.3	NP_001354.1:p.(Glu35Lys)	NC_000023.10:g.153993737G>A	(Likely) pathogenic	1 lab	18b381d39b
3:12653454 RAF1 G>C	3	12653454	12653454	G	C	RAF1	c.315C>G	NM_002880.3	NP_002871.1:p.(His105Gln)	NC_000003.11:g.12653454G>C	(Likely) benign	1 lab	18bae33a1e
X:119675491 CUL4B TGAACTCCACCTC>T	X	119675491	119675509	TGAACTCCACCTC	T	CUL4B				NC_000023.10:g.119675498_119675509del	VUS	1 lab	18be7c8f69
19:39075697 RYR1 T>C	19	39075697	39075697	T	C	RYR1	c.14761T>C	NM_000540.2	NP_000531.2:p.(Phe4921Leu)	NC_000019.9:g.39075697T>C	(Likely) pathogenic	1 lab	18c551f952
3:42264683 TRAK1 G>A	3	42264683	42264683	G	A	TRAK1	c.2316G>A	NM_001042646.3	NP_001036111.1:p.(Thr772=)	NC_000003.11:g.42264683G>A	(Likely) benign	1 lab	019f38de2a
1:145415748 HJV A>G	1	145415748	145415748	A	G	HJV	c.567A>G	NM_213653.3	NP_998818.1:p.(Gly189=)	NC_000001.10:g.145415748A>G	(Likely) benign	1 lab	18c9dcd8cd
13:32912869 BRCA2 CTT>C	13	32912869	32912873	CTT	C	BRCA2	c.4380_4381del	NM_000059.3	NP_000050.2:p.(Ser1461LeufsTer4)	NC_000013.10:g.32912872_32912873del	(Likely) pathogenic	1 lab	18ca8627b1
2:73746929 ALMS1 T>C	2	73746929	73746929	T	C	ALMS1	c.9570T>C	NM_015120.4	NP_055935.4:p.(Leu3190=)	NC_000002.11:g.73746929T>C	(Likely) benign	1 lab	18caeeaaa5
3:130140181 COL6A5 T>G	3	130140181	130140181	T	G	COL6A5	c.5014T>G	NM_001278298.2	NP_001265227.1:p.(Phe1672Val)	NC_000003.11:g.130140181T>G	(Likely) benign	1 lab	18cc86483c
5:79950742 MSH3 C>T	5	79950742	79950742	C	T	MSH3	c.196C>T	NM_002439.5	NP_002430.3:p.(Pro66Ser)	NC_000005.9:g.79950742C>T	VUS	1 lab	18cee5348a
17:59533868 TBX4 G>C	17	59533868	59533868	G	C	TBX4	c.17G>C	NM_018488.2	NP_060958.2:p.(Gly6Ala)	NC_000017.10:g.59533868G>C	(Likely) benign	1 lab	18d0cb0511
17:7807292 CHD3 G>A	17	7807292	7807292	G	A	CHD3	c.3877G>A	NM_001005273.2	NP_001005273.1:p.(Val1293Met)	NC_000017.10:g.7807292G>A	VUS	1 lab	18d1acd98d
19:38986923 RYR1 C>G	19	38986923	38986923	C	G	RYR1	c.6617C>G	NM_000540.2	NP_000531.2:p.(Thr2206Arg)	NC_000019.9:g.38986923C>G	(Likely) pathogenic	1 lab	18d2a68b2b
13:32968839 BRCA2 C>T	13	32968839	32968839	C	T	BRCA2	c.9270C>T	NM_000059.3	NP_000050.2:p.(Phe3090=)	NC_000013.10:g.32968839C>T	(Likely) benign	1 lab	18d303f50a
17:41251954 BRCA1 T>C	17	41251954	41251954	T	C	BRCA1	c.442-57A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251954T>C	(Likely) benign	1 lab	18d37771b4
5:112173947 APC C>T	5	112173947	112173947	C	T	APC	c.2656C>T	NM_000038.5	NP_000029.2:p.(Gln886Ter)	NC_000005.9:g.112173947C>T	(Likely) pathogenic	1 lab	18d3e8f295
3:47164946 SETD2 A>G	3	47164946	47164946	A	G	SETD2	c.1180T>C	NM_014159.6	NP_054878.5:p.(Cys394Arg)	NC_000003.11:g.47164946A>G	VUS	1 lab	18d56b17c8
5:14297358 TRIO C>T	5	14297358	14297358	C	T	TRIO	c.1354C>T	NM_007118.4	NP_009049.2:p.(Gln452Ter)	NC_000005.9:g.14297358C>T	(Likely) pathogenic	1 lab	18d580dbaf
1:45799211 MUTYH C>T	1	45799211	45799211	C	T	MUTYH	c.222G>A	NM_001128425.1	NP_001121897.1:p.(Glu74=)	NC_000001.10:g.45799211C>T	(Likely) benign	1 lab	18d587c5ed
19:6690746 C3 A>G	19	6690746	6690746	A	G	C3	c.3391-8T>C	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6690746A>G	(Likely) benign	1 lab	723892bb7c
9:139410189 NOTCH1 G>C	9	139410189	139410189	G	C	NOTCH1	c.1670-21C>G	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139410189G>C	(Likely) benign	1 lab	18d699f1a8
16:21747722 OTOA T>C	16	21747722	21747722	T	C	OTOA	c.2431+11T>C	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21747722T>C	(Likely) benign	1 lab	18dbb750d7
12:25398284 KRAS C>A	12	25398284	25398284	C	A	KRAS	c.35G>T	NM_004985.4	NP_004976.2:p.(Gly12Val)	NC_000012.11:g.25398284C>A	(Likely) pathogenic	1 lab	18dbf2b274
X:137821412 FGF13 G>A	X	137821412	137821412	G	A	FGF13	c.50-30322C>T	NM_001139498.1	NP_001132970.1:p.?	NC_000023.10:g.137821412G>A	VUS	1 lab	ac340a8d09
2:165947362 SCN3A G>A	2	165947362	165947362	G	A	SCN3A	c.5301C>T	NM_006922.4	NP_008853.3:p.(Ile1767=)	NC_000002.11:g.165947362G>A	(Likely) benign	1 lab	18de386f58
11:121016818 TECTA G>A	11	121016818	121016818	G	A	TECTA	c.4098G>A	NM_005422.4	NP_005413.2:p.(Thr1366=)	NC_000011.9:g.121016818G>A	(Likely) benign	1 lab	18e29b8898
2:179572476 TTN G>A	2	179572476	179572476	G	A	TTN	c.28818C>T	NM_001267550.2	NP_001254479.2:p.(Tyr9606=)	NC_000002.11:g.179572476G>A	(Likely) benign	1 lab	18e365b37b
17:42429857 GRN G>A	17	42429857	42429857	G	A	GRN	c.1562G>A	NM_002087.2	NP_002078.1:p.(Cys521Tyr)	NC_000017.10:g.42429857G>A	VUS	1 lab	01a5a21f31
5:137763713 KDM3B C>A	5	137763713	137763713	C	A	KDM3B	c.4691C>A	NM_016604.4	NP_057688.3:p.(Ser1564Tyr)	NC_000005.9:g.137763713C>A	VUS	1 lab	18e66cb8f6
3:38812893 SCN10A A>G	3	38812893	38812893	A	G	SCN10A	c.476T>C	NM_006514.3	NP_006505.3:p.(Val159Ala)	NC_000003.11:g.38812893A>G	VUS	1 lab	18e9599b01
2:44037599 DYNC2LI1 G>A	2	44037599	44037599	G	A	DYNC2LI1	c.1073G>A	NM_001348912.1	NP_001335841.1:p.(Gly358Glu)	NC_000002.11:g.44037599G>A	VUS	1 lab	acc222bc76
13:86370108 SLITRK6 A>T	13	86370108	86370108	A	T	SLITRK6	c.536T>A	NM_032229.2	NP_115605.2:p.(Ile179Asn)	NC_000013.10:g.86370108A>T	VUS	1 lab	190b9a2709
1:155874156 RIT1 G>A	1	155874156	155874156	G	A	RIT1	c.426C>T	NM_001256821.1	NP_001243750.1:p.(Asp142=)	NC_000001.10:g.155874156G>A	(Likely) benign	1 lab	18ea010d4b
1:241669302 FH C>CACAG	1	241669302	241669303	C	CACAG	FH	c.904_904+1insCTGT	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241669302_241669303insACAG	(Likely) pathogenic	1 lab	18eda15702
2:32289206 SPAST C>T	2	32289206	32289206	C	T	SPAST	c.306C>T	NM_014946.3	NP_055761.2:p.(Ala102=)	NC_000002.11:g.32289206C>T	(Likely) benign	1 lab	18f7dcbe17
5:256509 SDHA G>A	5	256509	256509	G	A	SDHA	c.1969G>A	NM_004168.2	NP_004159.2:p.(Val657Ile)	NC_000005.9:g.256509G>A	(Likely) benign	1 lab	18fb16178c
14:23884407 MYH7 T>C	14	23884407	23884407	T	C	MYH7	c.5356A>G	NM_000257.2	NP_000248.2:p.(Met1786Val)	NC_000014.8:g.23884407T>C	VUS	1 lab	18fb7540a4
15:89386652 ACAN G>A	15	89386652	89386652	G	A	ACAN	c.824G>A	NM_013227.3	NP_037359.3:p.(Arg275Gln)	NC_000015.9:g.89386652G>A	(Likely) benign	1 lab	18fb9233c9
3:46785518 PRSS45P G>A	3	46785518	46785518	G	A	PRSS45P	n.226C>T	NR_160553.1		NC_000003.11:g.46785518G>A	VUS	1 lab	ad1da852c4
4:6303901 WFS1 C>T	4	6303901	6303901	C	T	WFS1	c.2379C>T	NM_006005.3	NP_005996.2:p.(Arg793=)	NC_000004.11:g.6303901C>T	VUS	1 lab	18fe285d8a
X:107840303 COL4A5 G>A	X	107840303	107840303	G	A	COL4A5	c.1587+5G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107840303G>A	(Likely) pathogenic	1 lab	18fe8c9a11
7:155604634 SHH C>A	7	155604634	155604634	C	A	SHH	c.183G>T	NM_000193.2	NP_000184.1:p.(Arg61Ser)	NC_000007.13:g.155604634C>A	VUS	1 lab	18ffd4ed6f
1:39567865 MACF1 A>ACGAGAG	1	39567865	39567866	A	ACGAGAG	MACF1	c.220+17755_220+17756insCGAGAG	NM_012090.4	NP_036222.3:p.?	NC_000001.10:g.39567865_39567866insCGAGAG	(Likely) benign	1 lab	ad2f112699
X:101095463 NXF5 C>T	X	101095463	101095463	C	T	NXF5	n.1058+8G>A	NR_028089.1		NC_000023.10:g.101095463C>T	(Likely) benign	1 lab	ad94d8415e
11:118038997 SCN2B C>T	11	118038997	118038997	C	T	SCN2B	c.251G>A	NM_004588.4	NP_004579.1:p.(Arg84His)	NC_000011.9:g.118038997C>T	(Likely) benign	1 lab	190712254b
10:104377180 SUFU T>C	10	104377180	104377180	T	C	SUFU	c.1291T>C	NM_016169.3	NP_057253.2:p.(Leu431=)	NC_000010.10:g.104377180T>C	(Likely) benign	1 lab	190ada79ae
22:40516358 TNRC6B C>T	22	40516358	40516358	C	T	TNRC6B	c.-47+3226C>T	NM_001024843.1	NP_001020014.1:p.?	NC_000022.10:g.40516358C>T	VUS	1 lab	ae3e2db607
16:3900710 CREBBP G>C	16	3900710	3900710	G	C	CREBBP				NC_000016.9:g.3900710G>C	(Likely) pathogenic	1 lab	19848f6579
8:72128998 EYA1 C>T	8	72128998	72128998	C	T	EYA1	c.1289G>A	NM_172058.2	NP_742055.1:p.(Trp430Ter)	NC_000008.10:g.72128998C>T	(Likely) pathogenic	1 lab	190d03564b
10:255917 ZMYND11 C>CT	10	255917	255918	C	CT	ZMYND11	c.206dup	NM_001370100.5	NP_001357029.1:p.(Thr70AsnfsTer12)	NC_000010.10:g.255918dup	(Likely) pathogenic	1 lab	190d8127ef
19:39076585 RYR1 C>G	19	39076585	39076585	C	G	RYR1	c.14811C>G	NM_000540.2	NP_000531.2:p.(Ile4937Met)	NC_000019.9:g.39076585C>G	(Likely) pathogenic	1 lab	1911ec9e89
2:47637473 MSH2 G>T	2	47637473	47637473	G	T	MSH2	c.607G>T	NM_000251.3	NP_000242.1:p.(Gly203Ter)	NC_000002.11:g.47637473G>T	(Likely) pathogenic	1 lab	19128063fe
19:35532619 HPN T>C	19	35532619	35532619	T	C	HPN	c.-205-7T>C	NM_002151.2	NP_002142.1:p.?	NC_000019.9:g.35532619T>C	(Likely) benign	1 lab	ae900c693c
2:179587804 TTN C>T	2	179587804	179587804	C	T	TTN	c.21930G>A	NM_001267550.2	NP_001254479.2:p.(Arg7310=)	NC_000002.11:g.179587804C>T	(Likely) benign	1 lab	19166c701e
11:128761424 KCNJ5 GAAGGGA>G	11	128761424	128761430	GAAGGGA	G	KCNJ5	c.-202_-197del	NM_000890.4	NP_000881.3:p.?	NC_000011.9:g.128761425_128761430del	(Likely) benign	1 lab	19169ac4e0
5:140953085 DIAPH1 G>A	5	140953085	140953085	G	A	DIAPH1	c.2332C>T	NM_005219.4	NP_005210.3:p.(Gln778Ter)	NC_000005.9:g.140953085G>A	(Likely) pathogenic	1 lab	1918923094
2:166856329 SCN1A A>T	2	166856329	166856329	A	T	SCN1A	c.4285-43T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166856329A>T	(Likely) benign	1 lab	01a96c0494
11:108115852 ATM C>A	11	108115852	108115852	C	A	ATM	c.901+99C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108115852C>A	(Likely) benign	1 lab	191c59eaf0
7:151269426 PRKAG2 C>G	7	151269426	151269426	C	G	PRKAG2	c.1051+324G>C	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151269426C>G	(Likely) benign	1 lab	191e2b9ffc
12:5021064 KCNA1 G>T	12	5021064	5021064	G	T	KCNA1	c.520G>T	NM_000217.2	NP_000208.2:p.(Val174Phe)	NC_000012.11:g.5021064G>T	(Likely) pathogenic	1 lab	191ef8b1e6
10:121436477 BAG3 G>A	10	121436477	121436477	G	A	BAG3	c.1411G>A	NM_004281.4	NP_004272.2:p.(Glu471Lys)	NC_000010.10:g.121436477G>A	VUS	1 lab	19234233e1
1:45798256 MUTYH G>A	1	45798256	45798256	G	A	MUTYH	c.680C>T	NM_001128425.1	NP_001121897.1:p.(Ala227Val)	NC_000001.10:g.45798256G>A	VUS	1 lab	192a3f7d57
9:133942593 LAMC3 G>T	9	133942593	133942593	G	T	LAMC3	c.2593+1G>T	NM_006059.3	NP_006050.3:p.?	NC_000009.11:g.133942593G>T	VUS	1 lab	192b530507
10:61831586 ANK3 G>T	10	61831586	61831586	G	T	ANK3				NC_000010.10:g.61831586G>T	VUS	1 lab	1a9143e27e
4:155507209 FGA G>A	4	155507209	155507209	G	A	FGA	c.1372C>T	NM_000508.4	NP_000499.1:p.(Arg458Cys)	NC_000004.11:g.155507209G>A	(Likely) pathogenic	1 lab	192bd000a1
11:121031002 TECTA C>A	11	121031002	121031002	C	A	TECTA				NC_000011.9:g.121031002C>A	VUS	1 lab	192e9c7c72
21:47410290 COL6A1 A>G	21	47410290	47410290	A	G	COL6A1				NC_000021.8:g.47410290A>G	(Likely) pathogenic	1 lab	192f43e7f2
X:73811325 RLIM T>C	X	73811325	73811325	T	C	RLIM	c.1825A>G	NM_183353.2	NP_899196.1:p.(Ile609Val)	NC_000023.10:g.73811325T>C	VUS	1 lab	192f62953e
12:52056654 SCN8A C>A	12	52056654	52056654	C	A	SCN8A	c.53C>A	NM_014191.3	NP_055006.1:p.(Thr18Asn)	NC_000012.11:g.52056654C>A	VUS	1 lab	19309a26e5
3:128618324 ACAD9 G>A	3	128618324	128618324	G	A	ACAD9	c.808+20G>A	NM_014049.4	NP_054768.2:p.?	NC_000003.11:g.128618324G>A	(Likely) benign	1 lab	1931059c3a
5:140953669 DIAPH1 G>C	5	140953669	140953669	G	C	DIAPH1	c.1748C>G	NM_005219.4	NP_005210.3:p.(Pro583Arg)	NC_000005.9:g.140953669G>C	(Likely) benign	1 lab	19320c52b7
2:170096018 LRP2 G>A	2	170096018	170096018	G	A	LRP2	c.4294+19C>T	NM_004525.2	NP_004516.2:p.?	NC_000002.11:g.170096018G>A	(Likely) benign	1 lab	1933ac858f
19:45873439 ERCC2 G>A	19	45873439	45873439	G	A	ERCC2	c.57C>T	NM_000400.3	NP_000391.1:p.(Pro19=)	NC_000019.9:g.45873439G>A	(Likely) benign	1 lab	01aa11ef58
18:53302927 TCF4 T>C	18	53302927	53302927	T	C	TCF4	c.195+7A>G	NM_001243226.1	NP_001230155.1:p.?	NC_000018.9:g.53302927T>C	(Likely) benign	1 lab	aea067def3
10:50747071 ERCC6 C>A	10	50747071	50747071	C	A	ERCC6	c.-78G>T	NM_000124.3	NP_000115.1:p.?	NC_000010.10:g.50747071C>A	(Likely) benign	1 lab	1938d1f33d
X:77380839 PGK1 C>T	X	77380839	77380839	C	T	PGK1	c.1130C>T	NM_000291.3	NP_000282.1:p.(Ala377Val)	NC_000023.10:g.77380839C>T	VUS	1 lab	193a30232a
16:67694296 ACD A>C	16	67694296	67694296	A	C	ACD	c.86T>G	NM_001082486.1	NP_001075955.1:p.(Leu29Arg)	NC_000016.9:g.67694296A>C	VUS	1 lab	af054a951b
16:68856105 CDH1 G>A	16	68856105	68856105	G	A	CDH1	c.1913G>A	NM_004360.3	NP_004351.1:p.(Trp638Ter)	NC_000016.9:g.68856105G>A	(Likely) pathogenic	1 lab	194557bdc4
2:228560811 SLC19A3 T>C	2	228560811	228560811	T	C	SLC19A3	c.980-14A>G	NM_025243.3	NP_079519.1:p.?	NC_000002.11:g.228560811T>C	(Likely) pathogenic	1 lab	19456159db
3:9985732 CRELD1 C>T	3	9985732	9985732	C	T	CRELD1	c.1195C>T	NM_001031717.3	NP_001026887.1:p.(Leu399=)	NC_000003.11:g.9985732C>T	(Likely) benign	1 lab	1946335ece
15:38646696 SPRED1 G>A	15	38646696	38646696	G	A	SPRED1	c.*2831G>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38646696G>A	(Likely) benign	1 lab	19488c1da6
20:31996383 SNTA1 G>C	20	31996383	31996383	G	C	SNTA1	c.1448C>G	NM_003098.2	NP_003089.1:p.(Pro483Arg)	NC_000020.10:g.31996383G>C	VUS	1 lab	194b908878
2:97427470 CNNM4 C>T	2	97427470	97427470	C	T	CNNM4	c.734C>T	NM_020184.4	NP_064569.3:p.(Ser245Leu)	NC_000002.11:g.97427470C>T	VUS	1 lab	194ba2ba78
19:5893190 NDUFA11 T>C	19	5893190	5893190	T	C	NDUFA11	c.425A>G	NM_001193375.1	NP_001180304.1:p.(Gln142Arg)	NC_000019.9:g.5893190T>C	VUS	1 lab	b0b537ef6a
11:47369434 MYBPC3 C>T	11	47369434	47369434	C	T	MYBPC3	c.795G>A	NM_000256.3	NP_000247.2:p.(Leu265=)	NC_000011.9:g.47369434C>T	(Likely) benign	1 lab	194dfc8aaf
2:167055477 SCN9A A>C	2	167055477	167055477	A	C	SCN9A	c.5639T>G	NM_002977.3	NP_002968.1:p.(Val1880Gly)	NC_000002.11:g.167055477A>C	VUS	1 lab	195083c34f
16:1005057 LMF1 T>C	16	1005057	1005057	T	C	LMF1	c.-361-391A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005057T>C	(Likely) benign	1 lab	01f52d924f
2:32372301 SPAST C>T	2	32372301	32372301	C	T	SPAST	c.1702C>T	NM_014946.3	NP_055761.2:p.(Gln568Ter)	NC_000002.11:g.32372301C>T	(Likely) pathogenic	1 lab	195336a742
1:215847991 USH2A A>G	1	215847991	215847991	A	G	USH2A				NC_000001.10:g.215847991A>G	VUS	1 lab	1954338617
3:10219567 IRAK2 C>A	3	10219567	10219567	C	A	IRAK2	c.140C>A	NM_001570.4	NP_001561.3:p.(Ser47Tyr)	NC_000003.11:g.10219567C>A	(Likely) benign	1 lab	01aad46dc8
8:61742923 CHD7 C>A	8	61742923	61742923	C	A	CHD7	c.3565C>A	NM_017780.3	NP_060250.2:p.(Arg1189Ser)	NC_000008.10:g.61742923C>A	VUS	1 lab	1960b63847
15:72103761 NR2E3 GAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGC>G	15	72103761	72103870	GAGCGTGCAGCCCTGCCCCGGCCCAGCCCTGCCCTGGCCCAGCCCTGCCCCCTGCCCCTCAGGCGTGAGCCCCTCGCTCCAGTGCCGCGTGTGCGGAGACAGCAGC	G	NR2E3	c.119-57_166del	NM_014249.2	NP_055064.1:p.?	NC_000015.9:g.72103766_72103870del	(Likely) pathogenic	1 lab	1962b792dc
X:107920804 COL4A5 C>T	X	107920804	107920804	C	T	COL4A5	c.3883C>T	NM_033380.2	NP_203699.1:p.(Gln1295Ter)	NC_000023.10:g.107920804C>T	(Likely) pathogenic	1 lab	19680a9b2c
10:112590879 RBM20 C>A	10	112590879	112590879	C	A	RBM20	c.3512C>A	NM_001134363.3	NP_001127835.2:p.(Thr1171Lys)	NC_000010.10:g.112590879C>A	VUS	1 lab	19684b422e
11:108200947 ATM A>C	11	108200947	108200947	A	C	ATM	c.7314A>C	NM_000051.3	NP_000042.3:p.(Thr2438=)	NC_000011.9:g.108200947A>C	(Likely) benign	1 lab	196a5b4aee
3:52022841 ACY1 C>T	3	52022841	52022841	C	T	ACY1	c.1061C>T	NM_000666.2	NP_000657.1:p.(Ala354Val)	NC_000003.11:g.52022841C>T	VUS	1 lab	196c1293de
X:100496680 DRP2 C>T	X	100496680	100496680	C	T	DRP2	c.583C>T	NM_001939.2	NP_001930.2:p.(Gln195Ter)	NC_000023.10:g.100496680C>T	VUS	1 lab	196c904b63
12:6167118 VWF C>T	12	6167118	6167118	C	T	VWF	c.1626G>A	NM_000552.3	NP_000543.2:p.(Ala542=)	NC_000012.11:g.6167118C>T	(Likely) benign	1 lab	196de2c2e2
5:112043501 APC C>T	5	112043501	112043501	C	T	APC	c.87C>T	NM_001127511.2	NP_001120983.2:p.(Gly29=)	NC_000005.9:g.112043501C>T	VUS	1 lab	b1780848ba
5:149274862 PDE6A A>T	5	149274862	149274862	A	T	PDE6A	c.1621-9T>A	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149274862A>T	VUS	1 lab	19733e32e1
3:38592508 SCN5A G>C	3	38592508	38592508	G	C	SCN5A	c.5355C>G	NM_198056.2	NP_932173.1:p.(Pro1785=)	NC_000003.11:g.38592508G>C	(Likely) benign	1 lab	19743413f2
1:179526493 NPHS2 A>T	1	179526493	179526493	A	T	NPHS2	c.535-128T>A	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179526493A>T	(Likely) benign	1 lab	01ae2a5d28
22:19770480 TBX1 G>A	22	19770480	19770480	G	A	TBX1	c.1054G>A	NM_005992.1	NP_005983.1:p.(Val352Met)	NC_000022.10:g.19770480G>A	(Likely) benign	1 lab	b209bc10c2
17:37822244 TCAP A>G	17	37822244	37822244	A	G	TCAP	c.386A>G	NM_003673.3	NP_003664.1:p.(Asp129Gly)	NC_000017.10:g.37822244A>G	VUS	1 lab	19774279cb
21:43810080 TMPRSS3 A>G	21	43810080	43810080	A	G	TMPRSS3	c.161T>C	NM_024022.2	NP_076927.1:p.(Ile54Thr)	NC_000021.8:g.43810080A>G	VUS	1 lab	19780946b3
2:228118403 COL4A3 T>G	2	228118403	228118403	T	G	COL4A3	c.765+49T>G	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228118403T>G	(Likely) benign	1 lab	19787653db
20:57428876 GNAS C>G	20	57428876	57428876	C	G	GNAS	c.369C>G	NM_001077490.1	NP_001070958.1:p.(Leu123=)	NC_000020.10:g.57428876C>G	VUS	1 lab	b234c67b1e
16:70303525 AARS1 G>A	16	70303525	70303525	G	A	AARS1	c.958C>T	NM_001605.3	NP_001596.2:p.(Arg320Cys)	NC_000016.9:g.70303525G>A	VUS	1 lab	197cc410a4
11:111781011 CRYAB C>T	11	111781011	111781011	C	T	CRYAB	c.324+40G>A	NM_001885.2	NP_001876.1:p.?	NC_000011.9:g.111781011C>T	(Likely) benign	1 lab	197f8c29b2
X:153420189 OPN1LW T>G	X	153420189	153420189	T	G	OPN1LW	c.719T>G	NM_020061.5	NP_064445.2:p.(Leu240Arg)	NC_000023.10:g.153420189T>G	VUS	1 lab	1980196c7c
X:31893318 DMD G>T	X	31893318	31893318	G	T	DMD	c.7085C>A	NM_004006.2	NP_003997.1:p.(Pro2362Gln)	NC_000023.10:g.31893318G>T	(Likely) benign	1 lab	198befb0dd
18:31158605 ASXL3 A>T	18	31158605	31158605	A	T	ASXL3	c.10A>T	NM_030632.3	NP_085135.1:p.(Lys4Ter)	NC_000018.9:g.31158605A>T	VUS	1 lab	198cf83e0c
22:29121037 CHEK2 G>A	22	29121037	29121037	G	A	CHEK2	c.520C>T	NM_007194.3	NP_009125.1:p.(Leu174Phe)	NC_000022.10:g.29121037G>A	VUS	1 lab	1990338634
17:18022739 MYO15A G>T	17	18022739	18022739	G	T	MYO15A	c.625G>T	NM_016239.3	NP_057323.3:p.(Glu209Ter)	NC_000017.10:g.18022739G>T	(Likely) pathogenic	1 lab	1991541ac8
16:89612979 SPG7 ACC>A	16	89612979	89612991	ACC	A	SPG7	c.1450-76_1450-75del	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89612990_89612991del	(Likely) benign	1 lab	01b044478f
X:153647928 TAFAZZIN C>T	X	153647928	153647928	C	T	TAFAZZIN	c.507C>T	NM_000116.5	NP_000107.1:p.(Leu169=)	NC_000023.10:g.153647928C>T	(Likely) benign	1 lab	01b0d70091
5:37148385 CPLANE1 C>T	5	37148385	37148385	C	T	CPLANE1	c.8212-15G>A	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37148385C>T	(Likely) benign	1 lab	01b61c01c9
4:984124 IDUA G>T	4	984124	984124	G	T	IDUA	c.299+2387G>T	NM_000203.4	NP_000194.2:p.?	NC_000004.11:g.984124G>T	VUS	1 lab	199587cc2f
4:123653926 BBS12 G>A	4	123653926	123653926	G	A	BBS12	c.-124G>A	NM_152618.2	NP_689831.2:p.?	NC_000004.11:g.123653926G>A	(Likely) benign	1 lab	19960c898c
X:150565355 VMA21 C>T	X	150565355	150565355	C	T	VMA21	c.44C>T	NM_001363810.1	NP_001350739.1:p.(Ala15Val)	NC_000023.10:g.150565355C>T	(Likely) benign	1 lab	b25a08d6df
1:78383311 NEXN G>C	1	78383311	78383311	G	C	NEXN	c.88G>C	NM_144573.4	NP_653174.3:p.(Asp30His)	NC_000001.10:g.78383311G>C	VUS	1 lab	199a5f191d
20:61048479 GATA5 C>T	20	61048479	61048479	C	T	GATA5	c.679G>A	NM_080473.4	NP_536721.1:p.(Val227Ile)	NC_000020.10:g.61048479C>T	(Likely) benign	1 lab	199e5fce9d
3:53531299 CACNA1D C>T	3	53531299	53531299	C	T	CACNA1D	c.188C>T	NM_000720.3	NP_000711.1:p.(Ala63Val)	NC_000003.11:g.53531299C>T	VUS	1 lab	19a38a47cc
11:118012007 SCN4B C>T	11	118012007	118012007	C	T	SCN4B	c.508G>A	NM_174934.4	NP_777594.1:p.(Val170Met)	NC_000011.9:g.118012007C>T	(Likely) benign	1 lab	19a5cc74a4
2:136608646 MCM6 G>A	2	136608646	136608646	G	A	MCM6	c.1917+326C>T	NM_005915.5	NP_005906.2:p.?	NC_000002.11:g.136608646G>A	(Likely) benign	1 lab	19a783a508
17:7412890 POLR2A A>G	17	7412890	7412890	A	G	POLR2A	c.3752A>G	NM_000937.4	NP_000928.1:p.(Asn1251Ser)	NC_000017.10:g.7412890A>G	VUS	1 lab	19aa0d9f4b
19:50832217 KCNC3 C>A	19	50832217	50832217	C	A	KCNC3	c.123G>T	NM_004977.3	NP_004968.2:p.(Gln41His)	NC_000019.9:g.50832217C>A	(Likely) benign	1 lab	01b907b7b6
17:41245641 BRCA1 C>A	17	41245641	41245641	C	A	BRCA1	c.1907G>T	NM_007294.3	NP_009225.1:p.(Cys636Phe)	NC_000017.10:g.41245641C>A	(Likely) benign	1 lab	19af46c5de
13:32910901 BRCA2 T>C	13	32910901	32910901	T	C	BRCA2	c.2409T>C	NM_000059.3	NP_000050.2:p.(Tyr803=)	NC_000013.10:g.32910901T>C	(Likely) benign	1 lab	19afb588ee
14:23896759 MYH7 G>A	14	23896759	23896759	G	A	MYH7	c.1888+35C>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23896759G>A	(Likely) benign	1 lab	19b259b175
4:6303540 WFS1 G>A	4	6303540	6303540	G	A	WFS1	c.2018G>A	NM_006005.3	NP_005996.2:p.(Cys673Tyr)	NC_000004.11:g.6303540G>A	(Likely) pathogenic	1 lab	19b3a5c0e0
3:127786290 SEC61A1 T>G	3	127786290	127786290	T	G	SEC61A1	c.1002T>G	NM_013336.4	NP_037468.1:p.(Arg334=)	NC_000003.11:g.127786290T>G	(Likely) benign	1 lab	01bb9a9553
5:112173896 APC A>G	5	112173896	112173896	A	G	APC	c.2605A>G	NM_000038.5	NP_000029.2:p.(Asn869Asp)	NC_000005.9:g.112173896A>G	(Likely) benign	1 lab	19bb12418e
16:1250831 CACNA1H G>A	16	1250831	1250831	G	A	CACNA1H	c.1212+23G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1250831G>A	(Likely) benign	1 lab	01bf5cba19
4:79432782 FRAS1 A>G	4	79432782	79432782	A	G	FRAS1	c.10013+122A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79432782A>G	(Likely) benign	1 lab	01c0bc1f5f
X:76972632 ATRX G>A	X	76972632	76972632	G	A	ATRX	c.109C>T	NM_000489.3	NP_000480.2:p.(Arg37Ter)	NC_000023.10:g.76972632G>A	(Likely) pathogenic	1 lab	19bff10a87
1:196645125 CFH A>G	1	196645125	196645125	A	G	CFH	c.357A>G	NM_000186.3	NP_000177.2:p.(Gln119=)	NC_000001.10:g.196645125A>G	VUS	1 lab	19c15c0bb1
16:2162380 PKD1 G>C	16	2162380	2162380	G	C	PKD1	c.3256C>G	NM_001009944.2	NP_001009944.2:p.(Leu1086Val)	NC_000016.9:g.2162380G>C	(Likely) benign	1 lab	01c0ff605a
12:2783645 CACNA1C C>T	12	2783645	2783645	C	T	CACNA1C	c.4727-62C>T	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2783645C>T	(Likely) benign	1 lab	01c719006f
7:16415851 CRPPA G>C	7	16415851	16415851	G	C	CRPPA	c.550C>G	NM_001101426.3	NP_001094896.1:p.(Arg184Gly)	NC_000007.13:g.16415851G>C	(Likely) pathogenic	1 lab	19c8f0b271
17:18634376 TRIM16L T>G	17	18634376	18634376	T	G	TRIM16L	n.908-7T>G	NR_172633.1		NC_000017.10:g.18634376T>G	(Likely) benign	1 lab	b6a744a74e
1:156106103 LMNA G>A	1	156106103	156106103	G	A	LMNA	c.1256G>A	NM_170707.4	NP_733821.1:p.(Arg419His)	NC_000001.10:g.156106103G>A	VUS	1 lab	19cc1fa27f
1:216420126 USH2A G>T	1	216420126	216420126	G	T	USH2A	c.2610C>A	NM_206933.2	NP_996816.2:p.(Cys870Ter)	NC_000001.10:g.216420126G>T	(Likely) pathogenic	1 lab	19cc955e9a
2:48030657 MSH6 C>CT	2	48030657	48030659	C	CT	MSH6	c.3273dup	NM_000179.2	NP_000170.1:p.(Lys1092Ter)	NC_000002.11:g.48030659dup	(Likely) pathogenic	1 lab	19ccd1f2b7
16:81242194 PKD1L2 T>C	16	81242194	81242194	T	C	PKD1L2	c.662A>G	NM_001076780.1	NP_001070248.1:p.(Glu221Gly)	NC_000016.9:g.81242194T>C	(Likely) benign	1 lab	19cce3c6d0
X:77301922 ATP7A T>A	X	77301922	77301922	T	A	ATP7A	c.4358T>A	NM_000052.7	NP_000043.4:p.(Leu1453Gln)	NC_000023.10:g.77301922T>A	VUS	1 lab	19cf8b2a1c
19:10472557 TYK2 A>C	19	10472557	10472557	A	C	TYK2	c.1848T>G	NM_003331.4	NP_003322.3:p.(Pro616=)	NC_000019.9:g.10472557A>C	(Likely) benign	1 lab	01d1dffabb
20:57429783 GNAS C>T	20	57429783	57429783	C	T	GNAS	c.1276C>T	NM_001077490.1	NP_001070958.1:p.(Pro426Ser)	NC_000020.10:g.57429783C>T	VUS	1 lab	b25e066b2a
X:153648525 TAFAZZIN C>T	X	153648525	153648525	C	T	TAFAZZIN	c.647-26C>T	NM_000116.4	NP_000107.1:p.?	NC_000023.10:g.153648525C>T	(Likely) benign	1 lab	19d3413548
17:33445636 RAD51D G>A	17	33445636	33445636	G	A	RAD51D	c.147C>T	NM_002878.3	NP_002869.3:p.(Ala49=)	NC_000017.10:g.33445636G>A	(Likely) benign	1 lab	19d3ef168a
20:31019169 ASXL1 C>T	20	31019169	31019169	C	T	ASXL1	c.764C>T	NM_015338.5	NP_056153.2:p.(Pro255Leu)	NC_000020.10:g.31019169C>T	VUS	1 lab	19d64e2e1e
2:167149841 SCN9A T>G	2	167149841	167149841	T	G	SCN9A	c.1007A>C	NM_002977.3	NP_002968.1:p.(Asn336Thr)	NC_000002.11:g.167149841T>G	VUS	1 lab	19d961cc7e
X:43542820 MAOA C>T	X	43542820	43542820	C	T	MAOA				NC_000023.10:g.43542820C>T	(Likely) pathogenic	1 lab	19d9cce911
X:153296081 MECP2 TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG>T	X	153296081	153296120	TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG	T	MECP2	c.1163_1197del	NM_004992.3	NP_004983.1:p.(Pro388HisfsTer5)	NC_000023.10:g.153296086_153296120del	(Likely) pathogenic	1 lab	19da379936
13:32953904 BRCA2 C>T	13	32953904	32953904	C	T	BRCA2	c.8971C>T	NM_000059.4	NP_000050.3:p.(Arg2991Cys)	NC_000013.10:g.32953904C>T	VUS	1 lab	19db223e76
10:112595707 RBM20 G>A	10	112595707	112595707	G	A	RBM20	c.3655G>A	NM_001134363.2	NP_001127835.2:p.(Val1219Met)	NC_000010.10:g.112595707G>A	(Likely) benign	1 lab	19db32938b
X:140335820 SPANXC T>G	X	140335820	140335820	T	G	SPANXC	c.124A>C	NM_022661.2	NP_073152.1:p.(Met42Leu)	NC_000023.10:g.140335820T>G	VUS	1 lab	b32737bee7
5:146258290 PPP2R2B A>AGCTGCTGCTGCT	5	146258290	146258322	A	AGCTGCTGCTGCT	PPP2R2B	c.89-177597_89-177586dup	NM_001271899.1	NP_001258828.1:p.?	NC_000005.9:g.146258311_146258322dup	(Likely) benign	1 lab	b37097c660
7:128482357 FLNC C>T	7	128482357	128482357	C	T	FLNC	c.2194C>T	NM_001458.5	NP_001449.3:p.(Pro732Ser)	NC_000007.13:g.128482357C>T	VUS	1 lab	19deef057a
12:19475590 PLEKHA5 C>T	12	19475590	19475590	C	T	PLEKHA5	c.2437C>T	NM_001256470.1	NP_001243399.1:p.(Arg813Ter)	NC_000012.11:g.19475590C>T	VUS	1 lab	19e1d894eb
1:103352576 COL11A1 A>C	1	103352576	103352576	A	C	COL11A1	c.4645T>G	NM_001854.4	NP_001845.3:p.(Leu1549Val)	NC_000001.10:g.103352576A>C	VUS	1 lab	19e38060d2
16:1258119 CACNA1H C>A	16	1258119	1258119	C	A	CACNA1H	c.3261C>A	NM_021098.3	NP_066921.2:p.(Thr1087=)	NC_000016.9:g.1258119C>A	(Likely) benign	1 lab	01d54d61a9
11:125280693 PKNOX2 C>T	11	125280693	125280693	C	T	PKNOX2	c.650C>T	NM_001382333.1	NP_001369262.1:p.(Pro217Leu)	NC_000011.9:g.125280693C>T	VUS	1 lab	b38d09df07
17:41276035 BRCA1 A>G	17	41276035	41276035	A	G	BRCA1	c.79T>C	NM_007294.4	NP_009225.1:p.(Cys27Arg)	NC_000017.10:g.41276035A>G	(Likely) pathogenic	1 lab	19ed3da678
19:6711076 C3 G>C	19	6711076	6711076	G	C	C3	c.1401C>G	NM_000064.2	NP_000055.2:p.(Pro467=)	NC_000019.9:g.6711076G>C	VUS	1 lab	74cecec4ed
21:43815584 TMPRSS3 C>G	21	43815584	43815584	C	G	TMPRSS3	c.-51-7G>C	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43815584C>G	(Likely) benign	1 lab	19ed953735
3:4683848 ITPR1 C>T	3	4683848	4683848	C	T	ITPR1	c.438C>T	NM_001168272.1	NP_001161744.1:p.(Ala146=)	NC_000003.11:g.4683848C>T	(Likely) benign	1 lab	01d862a788
6:152720943 SYNE1 G>A	6	152720943	152720943	G	A	SYNE1	c.7045C>T	NM_182961.3	NP_892006.3:p.(Leu2349Phe)	NC_000006.11:g.152720943G>A	VUS	1 lab	19f1b889cf
7:94230039 SGCE A>AT	7	94230039	94230041	A	AT	SGCE	c.955dup	NM_001099401.1	NP_001092871.1:p.(Ile319AsnfsTer60)	NC_000007.13:g.94230041dup	(Likely) pathogenic	1 lab	19f4a5c95c
1:196748334 CFHR3 T>G	1	196748334	196748334	T	G	CFHR3	c.101T>G	NM_021023.6	NP_066303.2:p.(Phe34Cys)	NC_000001.10:g.196748334T>G	(Likely) benign	1 lab	19f841a912
6:152716813 SYNE1 G>A	6	152716813	152716813	G	A	SYNE1				NC_000006.11:g.152716813G>A	(Likely) benign	1 lab	19f9c673ab
6:65622518 EYS C>T	6	65622518	65622518	C	T	EYS	c.2500G>A	NM_001142800.1	NP_001136272.1:p.(Val834Ile)	NC_000006.11:g.65622518C>T	VUS	1 lab	19fe6e8fe3
10:31791314 ZEB1 C>T	10	31791314	31791314	C	T	ZEB1	c.361C>T	NM_001174096.2	NP_001167567.1:p.(Gln121Ter)	NC_000010.10:g.31791314C>T	(Likely) pathogenic	1 lab	19ff00f5bf
9:98244230 PTCH1 C>G	9	98244230	98244230	C	G	PTCH1	c.746+1G>C	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98244230C>G	(Likely) pathogenic	1 lab	19ff4ca135
11:2909523 SLC67A1-AS C>T	11	2909523	2909523	C	T	SLC67A1-AS	n.981G>A	NR_169304.1		NC_000011.9:g.2909523C>T	VUS	1 lab	b40f41489a
19:7615991 PNPLA6 C>A	19	7615991	7615991	C	A	PNPLA6	c.2065C>A	NM_006702.5	NP_006693.3:p.(Gln689Lys)	NC_000019.9:g.7615991C>A	VUS	1 lab	1a096545bd
15:63363947 TPM1 A>G	15	63363947	63363947	A	G	TPM1	c.*576A>G	NM_001018007.1	NP_001018007.1:p.?	NC_000015.9:g.63363947A>G	VUS	1 lab	1a0a119f88
5:112175771 APC GA>G	5	112175771	112175774	GA	G	APC	c.4483del	NM_000038.6	NP_000029.2:p.(Ser1495ValfsTer12)	NC_000005.9:g.112175774del	(Likely) pathogenic	1 lab	1a0a25e453
1:27105729 ARID1A A>G	1	27105729	27105729	A	G	ARID1A	c.5340A>G	NM_006015.4	NP_006006.3:p.(Glu1780=)	NC_000001.10:g.27105729A>G	(Likely) benign	1 lab	1a0bfb7b9a
16:23619299 PALB2 G>A	16	23619299	23619299	G	A	PALB2	c.3236C>T	NM_024675.4	NP_078951.2:p.(Ala1079Val)	NC_000016.9:g.23619299G>A	VUS	1 lab	1a0c6b2a76
5:145252214 GRXCR2 G>T	5	145252214	145252214	G	T	GRXCR2	c.318C>A	NM_001080516.2	NP_001073985.1:p.(Tyr106Ter)	NC_000005.9:g.145252214G>T	(Likely) pathogenic	1 lab	1a0ddd96a6
10:89653839 PTEN A>G	10	89653839	89653839	A	G	PTEN	c.137A>G	NM_000314.4	NP_000305.3:p.(Tyr46Cys)	NC_000010.10:g.89653839A>G	(Likely) pathogenic	1 lab	1a11eed659
3:46899947 MYL3 C>T	3	46899947	46899947	C	T	MYL3	c.486G>A	NM_000258.2	NP_000249.1:p.(Glu162=)	NC_000003.11:g.46899947C>T	(Likely) benign	1 lab	1a154cb888
9:214679 DOCK8-AS1 G>A	9	214679	214679	G	A	DOCK8-AS1	n.1072C>T	NR_160804.1		NC_000009.11:g.214679G>A	VUS	1 lab	b41ff53557
3:38889245 SCN11A G>A	3	38889245	38889245	G	A	SCN11A	c.4328-12C>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38889245G>A	(Likely) benign	1 lab	1a157d1b62
21:47422643 COL6A1 G>GA	21	47422643	47422644	G	GA	COL6A1	c.2434+19_2434+20insA	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47422643_47422644insA	(Likely) benign	1 lab	1a171f2d6f
X:107846291 COL4A5 G>A	X	107846291	107846291	G	A	COL4A5	c.2244G>A	NM_033380.2	NP_203699.1:p.(Lys748=)	NC_000023.10:g.107846291G>A	VUS	1 lab	1a177d038b
15:75693133 SIN3A G>A	15	75693133	75693133	G	A	SIN3A	c.1675C>T	NM_001145358.1	NP_001138830.1:p.(Arg559Ter)	NC_000015.9:g.75693133G>A	(Likely) pathogenic	1 lab	1a18a4e4b8
17:32483039 ASIC2 G>A	17	32483039	32483039	G	A	ASIC2	c.513C>T	NM_001094.4	NP_001085.2:p.(Cys171=)	NC_000017.10:g.32483039G>A	(Likely) benign	1 lab	b46d4466ea
12:49421039 KMT2D G>A	12	49421039	49421039	G	A	KMT2D	c.14710C>T	NM_003482.3	NP_003473.3:p.(Arg4904Ter)	NC_000012.11:g.49421039G>A	(Likely) pathogenic	1 lab	1a1b0cb489
7:44179994 MYL7 C>T	7	44179994	44179994	C	T	MYL7	c.226G>A	NM_021223.3	NP_067046.1:p.(Ala76Thr)	NC_000007.13:g.44179994C>T	(Likely) benign	1 lab	01d9771396
8:42694525 THAP1 C>A	8	42694525	42694525	C	A	THAP1	c.72-1G>T	NM_018105.2	NP_060575.1:p.?	NC_000008.10:g.42694525C>A	(Likely) pathogenic	1 lab	1a25dca192
1:196913078 CFHR2 A>G	1	196913078	196913078	A	G	CFHR2	c.58+10A>G	NM_005666.3	NP_005657.1:p.?	NC_000001.10:g.196913078A>G	VUS	1 lab	1a3219abfe
17:18045098 MYO15A G>A	17	18045098	18045098	G	A	MYO15A	c.5649+14G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18045098G>A	(Likely) benign	1 lab	1a34a128e4
1:228540715 OBSCN C>T	1	228540715	228540715	C	T	OBSCN	c.21484C>T	NM_001271223.2	NP_001258152.2:p.(Gln7162Ter)	NC_000001.10:g.228540715C>T	VUS	1 lab	1a39df7ab1
6:138192670 TNFAIP3 T>C	6	138192670	138192670	T	C	TNFAIP3	c.295+11T>C	NM_001270508.2	NP_001257437.1:p.?	NC_000006.11:g.138192670T>C	(Likely) benign	1 lab	01e359433f
4:114262970 ANK2 T>C	4	114262970	114262970	T	C	ANK2	c.4020T>C	NM_001148.5	NP_001139.3:p.(Ile1340=)	NC_000004.11:g.114262970T>C	VUS	1 lab	1a3c1dc542
17:41246553 BRCA1 C>T	17	41246553	41246553	C	T	BRCA1	c.995G>A	NM_007294.3	NP_009225.1:p.(Arg332Gln)	NC_000017.10:g.41246553C>T	(Likely) benign	1 lab	1a3d2395ab
10:73406215 CDH23 G>A	10	73406215	73406215	G	A	CDH23	c.1291-1G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73406215G>A	(Likely) pathogenic	1 lab	1a3e8a81e6
20:57429604 GNAS T>G	20	57429604	57429604	T	G	GNAS	c.1097T>G	NM_001077490.1	NP_001070958.1:p.(Ile366Ser)	NC_000020.10:g.57429604T>G	(Likely) benign	1 lab	b4d316f534
17:41244721 BRCA1 T>A	17	41244721	41244721	T	A	BRCA1	c.2827A>T	NM_007294.4	NP_009225.1:p.(Lys943Ter)	NC_000017.10:g.41244721T>A	(Likely) pathogenic	1 lab	1a4173e6d9
11:119148991 CBL G>A	11	119148991	119148991	G	A	CBL				NC_000011.9:g.119148991G>A	VUS	1 lab	75b8f85a41
X:70344906 MED12 C>T	X	70344906	70344906	C	T	MED12	c.2136C>T	NM_005120.3	NP_005111.2:p.(Pro712=)	NC_000023.10:g.70344906C>T	(Likely) benign	1 lab	1a471e45c5
12:48380655 COL2A1 G>A	12	48380655	48380655	G	A	COL2A1	c.1382C>T	NM_001844.5	NP_001835.3:p.(Ala461Val)	NC_000012.11:g.48380655G>A	(Likely) benign	1 lab	1a4bb8b969
8:61728967 CHD7 G>A	8	61728967	61728967	G	A	CHD7				NC_000008.10:g.61728967G>A	(Likely) pathogenic	1 lab	1a4ec45964
1:152279920 FLG A>G	1	152279920	152279920	A	G	FLG	c.7442T>C	NM_002016.1	NP_002007.1:p.(Leu2481Ser)	NC_000001.10:g.152279920A>G	(Likely) benign	1 lab	1a4f8460ac
X:138733902 MCF2 A>G	X	138733902	138733902	A	G	MCF2				NC_000023.10:g.138733902A>G	(Likely) benign	1 lab	1a508bd572
2:26507830 HADHB G>A	2	26507830	26507830	G	A	HADHB	c.1224+5G>A	NM_000183.2	NP_000174.1:p.?	NC_000002.11:g.26507830G>A	(Likely) benign	1 lab	1a522fb8c5
1:100343275 AGL ACTGTCCTTAT>A	1	100343275	100343287	ACTGTCCTTAT	A	AGL	c.1505_1514del	NM_000642.2	NP_000633.2:p.(Cys502SerfsTer5)	NC_000001.10:g.100343278_100343287del	(Likely) pathogenic	1 lab	1a57372150
11:118347553 KMT2A C>T	11	118347553	118347553	C	T	KMT2A	c.3190C>T	NM_001197104.1	NP_001184033.1:p.(Arg1064Ter)	NC_000011.9:g.118347553C>T	(Likely) pathogenic	1 lab	1a5e151264
16:30750645 SRCAP A>G	16	30750645	30750645	A	G	SRCAP				NC_000016.9:g.30750645A>G	VUS	1 lab	1a60f84c0b
X:41084141 USP9X G>A	X	41084141	41084141	G	A	USP9X				NC_000023.10:g.41084141G>A	VUS	1 lab	1a62a99cd2
3:120366722 HGD A>G	3	120366722	120366722	A	G	HGD	c.469+2T>C	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120366722A>G	(Likely) pathogenic	1 lab	1a65544f50
16:88788354 PIEZO1 G>A	16	88788354	88788354	G	A	PIEZO1	c.5076C>T	NM_001142864.4	NP_001136336.2:p.(Tyr1692=)	NC_000016.9:g.88788354G>A	(Likely) benign	1 lab	01e4c50e73
19:39008114 RYR1 G>A	19	39008114	39008114	G	A	RYR1	c.9801G>A	NM_000540.2	NP_000531.2:p.(Pro3267=)	NC_000019.9:g.39008114G>A	(Likely) benign	1 lab	01e7861be3
2:167134699 SCN9A A>G	2	167134699	167134699	A	G	SCN9A	c.2435T>C	NM_002977.3	NP_002968.1:p.(Leu812Pro)	NC_000002.11:g.167134699A>G	VUS	1 lab	1a66699a4f
12:6127867 VWF C>T	12	6127867	6127867	C	T	VWF	c.4717G>A	NM_000552.5	NP_000543.3:p.(Gly1573Ser)	NC_000012.11:g.6127867C>T	(Likely) pathogenic	1 lab	1a69d27375
10:255960 ZMYND11 A>G	10	255960	255960	A	G	ZMYND11	c.248A>G	NM_006624.5	NP_006615.2:p.(Glu83Gly)	NC_000010.10:g.255960A>G	VUS	1 lab	1a6c418bec
13:113772949 F7 G>C	13	113772949	113772949	G	C	F7	c.1028G>C	NM_000131.4	NP_000122.1:p.(Gly343Ala)	NC_000013.10:g.113772949G>C	VUS	1 lab	1a6d6fd9b5
4:1941380 NSD2 G>T	4	1941380	1941380	G	T	NSD2	c.1757-1G>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1941380G>T	VUS	1 lab	1a6fc07358
10:98743566 LCOR C>T	10	98743566	98743566	C	T	LCOR	c.3349C>T	NM_001346516.2	NP_001333445.1:p.(Gln1117Ter)	NC_000010.10:g.98743566C>T	VUS	1 lab	1a6fea3e8e
5:112164671 APC T>C	5	112164671	112164671	T	C	APC	c.1743+2T>C	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112164671T>C	(Likely) pathogenic	1 lab	1a746f0a1f
8:145049390 PLEC C>A	8	145049390	145049390	C	A	PLEC	c.148G>T	NM_000445.3	NP_000436.2:p.(Gly50Trp)	NC_000008.10:g.145049390C>A	VUS	1 lab	b5b25d8ee9
7:128481279 FLNC T>C	7	128481279	128481279	T	C	FLNC	c.1869T>C	NM_001458.4	NP_001449.3:p.(Asp623=)	NC_000007.13:g.128481279T>C	(Likely) benign	1 lab	1a78dc7cf2
11:17596437 OTOG C>T	11	17596437	17596437	C	T	OTOG	c.2500C>T	NM_001277269.2	NP_001264198.1:p.(Gln834Ter)	NC_000011.9:g.17596437C>T	(Likely) pathogenic	1 lab	1a790f4b98
16:85682326 GSE1 T>C	16	85682326	85682326	T	C	GSE1	c.395T>C	NM_014615.3	NP_055430.1:p.(Val132Ala)	NC_000016.9:g.85682326T>C	VUS	1 lab	1a79e96751
19:39058411 RYR1 A>G	19	39058411	39058411	A	G	RYR1				NC_000019.9:g.39058411A>G	(Likely) pathogenic	1 lab	1a7b4f5430
1:78392425 NEXN A>C	1	78392425	78392425	A	C	NEXN	c.712A>C	NM_144573.3	NP_653174.3:p.(Lys238Gln)	NC_000001.10:g.78392425A>C	(Likely) benign	1 lab	1a840c8c0f
6:45459851 RUNX2 G>A	6	45459851	45459851	G	A	RUNX2	c.859G>A	NM_001024630.3	NP_001019801.3:p.(Asp287Asn)	NC_000006.11:g.45459851G>A	(Likely) pathogenic	1 lab	1a85712fa0
1:43396425 SLC2A1 C>T	1	43396425	43396425	C	T	SLC2A1	c.388G>A	NM_006516.2	NP_006507.2:p.(Gly130Ser)	NC_000001.10:g.43396425C>T	(Likely) pathogenic	1 lab	1a868f75fe
4:79444029 FRAS1 G>A	4	79444029	79444029	G	A	FRAS1	c.10808+67G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79444029G>A	(Likely) benign	1 lab	01f23bc39b
X:107813936 COL4A5 G>A	X	107813936	107813936	G	A	COL4A5	c.385-707G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107813936G>A	(Likely) pathogenic	1 lab	1a88d54ddc
1:226259212 H3-3A CA>C	1	226259212	226259229	CA	C	H3-3A	c.*49del	NM_002107.7	NP_002098.1:p.?	NC_000001.10:g.226259229del	(Likely) benign	1 lab	01f37311d5
3:97508895 ARL6 T>TTGTGTG	3	97508895	97508935	T	TTGTGTG	ARL6	c.480-1685_480-1680dup	NM_177976.3	NP_816931.1:p.?	NC_000003.11:g.97508930_97508935dup	(Likely) benign	1 lab	01f5c13229
19:50101061 PRR12 C>G	19	50101061	50101061	C	G	PRR12	c.3469C>G	NM_020719.1	NP_065770.1:p.(Arg1157Gly)	NC_000019.9:g.50101061C>G	VUS	1 lab	1a931f4ed6
11:5248154 HBB A>G	11	5248154	5248154	A	G	HBB	c.92+6T>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5248154A>G	(Likely) pathogenic	1 lab	1a95bbb238
2:179396428 TTN C>T	2	179396428	179396428	C	T	TTN	c.104914G>A	NM_001267550.2	NP_001254479.2:p.(Glu34972Lys)	NC_000002.11:g.179396428C>T	(Likely) benign	1 lab	1a970e27f3
X:31462686 DMD G>A	X	31462686	31462686	G	A	DMD				NC_000023.10:g.31462686G>A	VUS	1 lab	1a9a90899a
8:38272340 FGFR1 G>A	8	38272340	38272340	G	A	FGFR1	c.1934C>T	NM_023110.2	NP_075598.2:p.(Ala645Val)	NC_000008.10:g.38272340G>A	VUS	1 lab	1a9bcc503a
4:187540381 FAT1 G>A	4	187540381	187540381	G	A	FAT1	c.7359C>T	NM_005245.4	NP_005236.2:p.(His2453=)	NC_000004.11:g.187540381G>A	(Likely) benign	1 lab	01f865f8a5
1:114443898 AP4B1 C>T	1	114443898	114443898	C	T	AP4B1	c.577G>A	NM_001253852.3	NP_001240781.1:p.(Val193Ile)	NC_000001.10:g.114443898C>T	(Likely) pathogenic	1 lab	1a9edf116e
17:39780487 KRT17 T>C	17	39780487	39780487	T	C	KRT17	c.275A>G	NM_000422.3	NP_000413.1:p.(Asn92Ser)	NC_000017.10:g.39780487T>C	(Likely) pathogenic	1 lab	1aa1d0702b
X:153457207 OPN1MW T>C	X	153457207	153457207	T	C	OPN1MW	c.607T>C	NM_000513.2	NP_000504.1:p.(Cys203Arg)	NC_000023.10:g.153457207T>C	(Likely) pathogenic	1 lab	1aa365fdbc
2:47637384 MSH2 T>A	2	47637384	47637384	T	A	MSH2	c.518T>A	NM_000251.2	NP_000242.1:p.(Leu173Gln)	NC_000002.11:g.47637384T>A	VUS	1 lab	1aade06b5e
1:120510781 NOTCH2 G>A	1	120510781	120510781	G	A	NOTCH2	c.1183C>T	NM_024408.3	NP_077719.2:p.(Leu395=)	NC_000001.10:g.120510781G>A	(Likely) benign	1 lab	1ab314c940
1:215848062 USH2A C>T	1	215848062	215848062	C	T	USH2A	c.13191G>A	NM_206933.2	NP_996816.2:p.(Glu4397=)	NC_000001.10:g.215848062C>T	(Likely) benign	1 lab	1ab4e45a00
3:93692543 PROS1 T>TA	3	93692543	93692544	T	TA	PROS1	c.50dup	NM_000313.4	NP_000304.2:p.(Val18SerfsTer21)	NC_000003.11:g.93692544dup	(Likely) pathogenic	1 lab	1ab5f5c2cb
13:113773030 F7 G>T	13	113773030	113773030	G	T	F7	c.1109G>T	NM_000131.4	NP_000122.1:p.(Cys370Phe)	NC_000013.10:g.113773030G>T	(Likely) pathogenic	1 lab	1ab62f9854
10:104121568 GBF1 C>G	10	104121568	104121568	C	G	GBF1	c.1582C>G	NM_004193.2	NP_004184.1:p.(Leu528Val)	NC_000010.10:g.104121568C>G	(Likely) benign	1 lab	1abc5ada9f
X:13785245 OFD1 G>C	X	13785245	13785245	G	C	OFD1	c.2600-1G>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13785245G>C	VUS	1 lab	1c753bff73
2:86315741 POLR1A C>T	2	86315741	86315741	C	T	POLR1A	c.678G>A	NM_015425.3	NP_056240.2:p.(Thr226=)	NC_000002.11:g.86315741C>T	(Likely) benign	1 lab	1abde014e1
18:18964179 GREB1L A>G	18	18964179	18964179	A	G	GREB1L	c.170A>G	NM_001142966.3	NP_001136438.1:p.(Lys57Arg)	NC_000018.9:g.18964179A>G	VUS	1 lab	1ac11764e3
12:49434681 KMT2D TCTTC>T	12	49434681	49434689	TCTTC	T	KMT2D	c.6868_6871del	NM_003482.4	NP_003473.3:p.(Glu2290SerfsTer31)	NC_000012.11:g.49434686_49434689del	(Likely) pathogenic	1 lab	1ac3072ed2
18:48593617 SMAD4 T>C	18	48593617	48593617	T	C	SMAD4	c.1308+60T>C	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48593617T>C	(Likely) benign	1 lab	1ac8a91ffd
16:23635449 PALB2 G>C	16	23635449	23635449	G	C	PALB2	c.2749-34C>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23635449G>C	(Likely) benign	1 lab	1ac94ee994
3:55508461 WNT5A G>A	3	55508461	55508461	G	A	WNT5A	c.588C>T	NM_003392.4	NP_003383.2:p.(Phe196=)	NC_000003.11:g.55508461G>A	(Likely) benign	1 lab	1acaac3f48
13:101736075 NALCN A>G	13	101736075	101736075	A	G	NALCN	c.3570T>C	NM_052867.3	NP_443099.1:p.(Leu1190=)	NC_000013.10:g.101736075A>G	(Likely) benign	1 lab	1acae6cf9b
17:59853793 BRIP1 T>C	17	59853793	59853793	T	C	BRIP1	c.2066A>G	NM_032043.3	NP_114432.2:p.(Gln689Arg)	NC_000017.10:g.59853793T>C	(Likely) benign	1 lab	1ace321e95
17:27064772 NEK8 G>A	17	27064772	27064772	G	A	NEK8	c.889+18G>A	NM_178170.3	NP_835464.1:p.?	NC_000017.10:g.27064772G>A	(Likely) benign	1 lab	0200254be5
14:75590814 NEK9 ATGT>A	14	75590814	75590820	ATGT	A	NEK9				NC_000014.8:g.75590818_75590820del	(Likely) pathogenic	1 lab	1acff7c5d4
19:4099325 MAP2K2 A>C	19	4099325	4099325	A	C	MAP2K2	c.793T>G	NM_030662.4	NP_109587.1:p.(Tyr265Asp)	NC_000019.9:g.4099325A>C	VUS	1 lab	1ad03320ac
12:21200143 SLCO1B3-SLCO1B7 T>G	12	21200143	21200143	T	G	SLCO1B3-SLCO1B7	c.1866-20110T>G	NM_001371097.1	NP_001358026.1:p.?	NC_000012.11:g.21200143T>G	(Likely) benign	1 lab	b5b374cf04
1:241665783 FH C>T	1	241665783	241665783	C	T	FH	c.1196G>A	NM_000143.3	NP_000134.2:p.(Ser399Asn)	NC_000001.10:g.241665783C>T	(Likely) pathogenic	1 lab	1ad1eb8283
6:110112898 FIG4 G>A	6	110112898	110112898	G	A	FIG4	c.2376+124G>A	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110112898G>A	(Likely) benign	1 lab	020162da06
20:57429259 GNAS C>G	20	57429259	57429259	C	G	GNAS	c.752C>G	NM_001077490.1	NP_001070958.1:p.(Ala251Gly)	NC_000020.10:g.57429259C>G	(Likely) benign	1 lab	b700e430f2
6:86239963 SNX14 TAGAC>T	6	86239963	86239971	TAGAC	T	SNX14				NC_000006.11:g.86239968_86239971del	(Likely) pathogenic	1 lab	9fca0a7883
X:49845243 CLCN5 T>C	X	49845243	49845243	T	C	CLCN5	c.394-8T>C	NM_000084.5	NP_000075.1:p.?	NC_000023.10:g.49845243T>C	(Likely) benign	1 lab	020194b6c8
16:2150535 PKD1 C>T	16	2150535	2150535	C	T	PKD1	c.9430G>A	NM_001009944.3	NP_001009944.3:p.(Gly3144Arg)	NC_000016.9:g.2150535C>T	(Likely) pathogenic	1 lab	1add3549d5
7:45109561 CCM2 G>A	7	45109561	45109561	G	A	CCM2	c.808+1G>A	NM_001029835.2	NP_001025006.1:p.?	NC_000007.13:g.45109561G>A	(Likely) pathogenic	1 lab	020230168b
13:52518408 ATP7B T>C	13	52518408	52518408	T	C	ATP7B	c.3080A>G	NM_000053.4	NP_000044.2:p.(Asp1027Gly)	NC_000013.10:g.52518408T>C	(Likely) pathogenic	1 lab	02044a989e
20:62321189 RTEL1 C>T	20	62321189	62321189	C	T	RTEL1	c.2184C>T	NM_032957.4	NP_116575.3:p.(Asp728=)	NC_000020.10:g.62321189C>T	(Likely) benign	1 lab	1ae1ea72d1
11:119214525 MFRP C>A	11	119214525	119214525	C	A	MFRP	c.1124+1G>T	NM_031433.4	NP_113621.1:p.?	NC_000011.9:g.119214525C>A	(Likely) pathogenic	1 lab	1ae40ade0c
14:92343929 FBLN5 C>T	14	92343929	92343929	C	T	FBLN5	c.1087G>A	NM_006329.3	NP_006320.2:p.(Ala363Thr)	NC_000014.8:g.92343929C>T	(Likely) pathogenic	1 lab	1ae501f4cb
7:35271254 TBX20 T>C	7	35271254	35271254	T	C	TBX20	c.814-62A>G	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35271254T>C	(Likely) benign	1 lab	1ae6046f0f
4:149035349 NR3C2 TC>T	4	149035349	149035350	TC	T	NR3C2	c.2704del	NM_000901.4	NP_000892.2:p.(Glu902AsnfsTer2)	NC_000004.11:g.149035350del	(Likely) pathogenic	1 lab	1ae8a0a115
4:186435492 PDLIM3 C>CT	4	186435492	186435493	C	CT	PDLIM3	c.331-2dup	NM_014476.5	NP_055291.2:p.?	NC_000004.11:g.186435493dup	(Likely) benign	1 lab	1aecdb2c38
2:166003488 SCN3A A>G	2	166003488	166003488	A	G	SCN3A	c.1432T>C	NM_006922.4	NP_008853.3:p.(Leu478=)	NC_000002.11:g.166003488A>G	(Likely) benign	1 lab	1aedf283e1
5:112128147 APC G>A	5	112128147	112128147	G	A	APC	c.650G>A	NM_000038.6	NP_000029.2:p.(Arg217Lys)	NC_000005.9:g.112128147G>A	VUS	1 lab	1aeef6e7fd
9:2718654 KCNV2 G>A	9	2718654	2718654	G	A	KCNV2	c.915G>A	NM_133497.3	NP_598004.1:p.(Val305=)	NC_000009.11:g.2718654G>A	(Likely) benign	1 lab	1af728b733
17:41197751 BRCA1 G>A	17	41197751	41197751	G	A	BRCA1				NC_000017.10:g.41197751G>A	(Likely) pathogenic	1 lab	1d654f4878
6:66063461 EYS T>G	6	66063461	66063461	T	G	EYS	c.1349A>C	NM_001142800.1	NP_001136272.1:p.(Asn450Thr)	NC_000006.11:g.66063461T>G	VUS	1 lab	1af7f781bb
1:196964939 CFHR5 G>A	1	196964939	196964939	G	A	CFHR5	c.700G>A	NM_030787.4	NP_110414.1:p.(Glu234Lys)	NC_000001.10:g.196964939G>A	VUS	1 lab	1afb24bf40
10:89692979 PTEN T>C	10	89692979	89692979	T	C	PTEN	c.463T>C	NM_000314.4	NP_000305.3:p.(Tyr155His)	NC_000010.10:g.89692979T>C	(Likely) pathogenic	1 lab	1afb8c419b
9:21994298 CDKN2A A>AG	9	21994298	21994299	A	AG	CDKN2A	c.-4+521_-4+522insC	NM_001363763.1	NP_001350692.1:p.?	NC_000009.11:g.21994298_21994299insG	VUS	1 lab	b7175b95f4
20:50701185 ZFP64 G>A	20	50701185	50701185	G	A	ZFP64	c.1192C>T	NM_001319146.1	NP_001306075.1:p.(Pro398Ser)	NC_000020.10:g.50701185G>A	(Likely) benign	1 lab	b71aff6d13
17:33443893 RAD51D G>A	17	33443893	33443893	G	A	RAD51D	c.263+1627C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33443893G>A	(Likely) benign	1 lab	1b02611203
16:89351611 ANKRD11 G>A	16	89351611	89351611	G	A	ANKRD11	c.1339C>T	NM_013275.5	NP_037407.4:p.(Gln447Ter)	NC_000016.9:g.89351611G>A	(Likely) pathogenic	1 lab	1b03b30dfd
20:57429918 GNAS C>G	20	57429918	57429918	C	G	GNAS	c.1411C>G	NM_001077490.1	NP_001070958.1:p.(Pro471Ala)	NC_000020.10:g.57429918C>G	(Likely) benign	1 lab	b75d7dfa12
1:216172299 USH2A C>G	1	216172299	216172299	C	G	USH2A	c.6587G>C	NM_206933.2	NP_996816.2:p.(Ser2196Thr)	NC_000001.10:g.216172299C>G	(Likely) benign	1 lab	1b06cfee97
8:61748843 CHD7 G>C	8	61748843	61748843	G	C	CHD7				NC_000008.10:g.61748843G>C	(Likely) pathogenic	1 lab	1b09fbe11c
7:21640467 DNAH11 T>A	7	21640467	21640467	T	A	DNAH11	c.3174T>A	NM_001277115.2	NP_001264044.1:p.(Ala1058=)	NC_000007.13:g.21640467T>A	VUS	1 lab	1b0a54d165
4:120108603 MYOZ2 G>A	4	120108603	120108603	G	A	MYOZ2	c.*1248G>A	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120108603G>A	(Likely) benign	1 lab	1b0a985d87
20:57605482 ATP5F1E T>C	20	57605482	57605482	T	C	ATP5F1E	c.35A>G	NM_006886.4	NP_008817.1:p.(Tyr12Cys)	NC_000020.10:g.57605482T>C	(Likely) pathogenic	1 lab	1b0c51ba5c
6:138893008 NHSL1 G>C	6	138893008	138893008	G	C	NHSL1	c.41C>G	NM_020464.1	NP_065197.1:p.(Pro14Arg)	NC_000006.11:g.138893008G>C	VUS	1 lab	b77269390b
10:104592455 CYP17A1 T>C	10	104592455	104592455	T	C	CYP17A1	c.970-18A>G	NM_000102.3	NP_000093.1:p.?	NC_000010.10:g.104592455T>C	(Likely) benign	1 lab	1b11defced
15:40727694 IVD C>T	15	40727694	40727694	C	T	IVD	c.1308C>T	NM_001354598.1	NP_001341527.1:p.(His436=)	NC_000015.9:g.40727694C>T	VUS	1 lab	b7cc0292d9
5:145719108 POU4F3 C>T	5	145719108	145719108	C	T	POU4F3	c.121-3C>T	NM_002700.2	NP_002691.1:p.?	NC_000005.9:g.145719108C>T	VUS	1 lab	1b164526c7
16:81232612 PKD1L2 G>C	16	81232612	81232612	G	C	PKD1L2	c.1198C>G	NM_001076780.1	NP_001070248.1:p.(Gln400Glu)	NC_000016.9:g.81232612G>C	VUS	1 lab	b7fd66f65b
12:6692401 CHD4 T>C	12	6692401	6692401	T	C	CHD4				NC_000012.11:g.6692401T>C	VUS	1 lab	1b18eea078
1:237957304 RYR2 A>G	1	237957304	237957304	A	G	RYR2	c.13913+7A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237957304A>G	(Likely) benign	1 lab	1b1974e5dc
1:16378811 CLCNKB C>T	1	16378811	16378811	C	T	CLCNKB	c.1527C>T	NM_000085.4	NP_000076.2:p.(Asn509=)	NC_000001.10:g.16378811C>T	(Likely) benign	1 lab	1b1a902a1a
8:38003831 STAR C>T	8	38003831	38003831	C	T	STAR	c.441G>A	NM_000349.2	NP_000340.2:p.(Trp147Ter)	NC_000008.10:g.38003831C>T	(Likely) pathogenic	1 lab	1b1b590626
2:179514066 TTN G>A	2	179514066	179514066	G	A	TTN	c.39974-8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179514066G>A	(Likely) benign	1 lab	1b1b5f2ca7
1:241672078 FH T>C	1	241672078	241672078	T	C	FH				NC_000001.10:g.241672078T>C	(Likely) pathogenic	1 lab	1b1f7892f2
13:32910386 BRCA2 G>C	13	32910386	32910386	G	C	BRCA2	c.1910-16G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32910386G>C	(Likely) benign	1 lab	1b257cabd1
1:103548497 COL11A1 A>C	1	103548497	103548497	A	C	COL11A1	c.138T>G	NM_001854.3	NP_001845.3:p.(Asp46Glu)	NC_000001.10:g.103548497A>C	(Likely) benign	1 lab	1b2aa198fc
10:124214251 ARMS2 G>A	10	124214251	124214251	G	A	ARMS2	c.8G>A	NM_001099667.3	NP_001093137.1:p.(Arg3His)	NC_000010.10:g.124214251G>A	(Likely) benign	1 lab	1b2ad33efb
7:128480090 FLNC C>A	7	128480090	128480090	C	A	FLNC	c.1425C>A	NM_001458.4	NP_001449.3:p.(Asn475Lys)	NC_000007.13:g.128480090C>A	VUS	1 lab	1b2d335e57
12:121891053 KDM2B C>G	12	121891053	121891053	C	G	KDM2B	c.1829G>C	NM_032590.5	NP_115979.3:p.(Arg610Pro)	NC_000012.11:g.121891053C>G	VUS	1 lab	1b2fd31d6b
1:155880449 RIT1 C>G	1	155880449	155880449	C	G	RIT1	c.104G>C	NM_006912.6	NP_008843.1:p.(Ser35Thr)	NC_000001.10:g.155880449C>G	(Likely) pathogenic	1 lab	1b318c857a
19:35775693 HAMP C>T	19	35775693	35775693	C	T	HAMP	c.92C>T	NM_021175.2	NP_066998.1:p.(Thr31Met)	NC_000019.9:g.35775693C>T	(Likely) benign	1 lab	1b31c03213
3:38739237 SCN10A A>G	3	38739237	38739237	A	G	SCN10A	c.5474T>C	NM_006514.3	NP_006505.3:p.(Met1825Thr)	NC_000003.11:g.38739237A>G	VUS	1 lab	1b34d52deb
8:42317446 SLC20A2 T>C	8	42317446	42317446	T	C	SLC20A2	c.581A>G	NM_006749.4	NP_006740.1:p.(Asn194Ser)	NC_000008.10:g.42317446T>C	VUS	1 lab	1b3d8f0f4b
12:133218337 POLE G>A	12	133218337	133218337	G	A	POLE	c.5274C>T	NM_006231.4	NP_006222.2:p.(Phe1758=)	NC_000012.11:g.133218337G>A	(Likely) benign	1 lab	1b3f5f38dc
2:38302544 CYP1B1 G>A	2	38302544	38302544	G	A	CYP1B1	c.-1-12C>T	NM_000104.3	NP_000095.2:p.?	NC_000002.11:g.38302544G>A	(Likely) benign	1 lab	1b41a0e4e4
22:51011936 CPT1B T>C	22	51011936	51011936	T	C	CPT1B	c.1166+13A>G	NM_004377.3	NP_004368.1:p.?	NC_000022.10:g.51011936T>C	(Likely) benign	1 lab	1b44271209
3:38781065 SCN10A G>C	3	38781065	38781065	G	C	SCN10A	c.2221C>G	NM_006514.3	NP_006505.3:p.(Leu741Val)	NC_000003.11:g.38781065G>C	VUS	1 lab	1b79bb9c8f
8:61736499 CHD7 G>A	8	61736499	61736499	G	A	CHD7	c.3302G>A	NM_017780.3	NP_060250.2:p.(Cys1101Tyr)	NC_000008.10:g.61736499G>A	(Likely) pathogenic	1 lab	1b453d8620
19:18981235 GDF1 C>A	19	18981235	18981235	C	A	GDF1	c.-119G>T	NM_001492.5	NP_001483.3:p.?	NC_000019.9:g.18981235C>A	(Likely) benign	1 lab	9f0bafc8ee
2:179644863 TTN T>C	2	179644863	179644863	T	C	TTN	c.3593A>G	NM_001267550.2	NP_001254479.2:p.(Gln1198Arg)	NC_000002.11:g.179644863T>C	VUS	1 lab	1b45f473d4
15:67004042 SMAD6 G>A	15	67004042	67004042	G	A	SMAD6	c.854G>A	NM_005585.4	NP_005576.3:p.(Arg285His)	NC_000015.9:g.67004042G>A	(Likely) benign	1 lab	1b4bba28da
7:149486789 SSPOP C>T	7	149486789	149486789	C	T	SSPOP	n.4574C>T	NR_163594.1		NC_000007.13:g.149486789C>T	VUS	1 lab	b89d9d4e2b
11:837483 CD151 C>T	11	837483	837483	C	T	CD151	c.480C>T	NM_004357.5	NP_004348.2:p.(Asn160=)	NC_000011.9:g.837483C>T	(Likely) benign	1 lab	0215d5d187
17:59853918 BRIP1 C>A	17	59853918	59853918	C	A	BRIP1	c.1941G>T	NM_032043.3	NP_114432.2:p.(Trp647Cys)	NC_000017.10:g.59853918C>A	VUS	1 lab	1b5f1cac76
1:215821971 USH2A G>A	1	215821971	215821971	G	A	USH2A	c.14481C>T	NM_206933.2	NP_996816.2:p.(Ala4827=)	NC_000001.10:g.215821971G>A	(Likely) benign	1 lab	1b6472472c
1:16378755 CLCNKB G>A	1	16378755	16378755	G	A	CLCNKB	c.1471G>A	NM_000085.4	NP_000076.2:p.(Val491Met)	NC_000001.10:g.16378755G>A	(Likely) benign	1 lab	1b69103730
1:201334373 TNNT2 G>C	1	201334373	201334373	G	C	TNNT2	c.327C>G	NM_001001430.3	NP_001001430.1:p.(His109Gln)	NC_000001.10:g.201334373G>C	VUS	1 lab	1b730116a7
X:70348437 MED12 T>C	X	70348437	70348437	T	C	MED12	c.3355-11T>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70348437T>C	(Likely) benign	1 lab	0219fe434d
14:31581629 HECTD1 C>T	14	31581629	31581629	C	T	HECTD1	c.6271G>A	NM_015382.2	NP_056197.2:p.(Ala2091Thr)	NC_000014.8:g.31581629C>T	(Likely) benign	1 lab	1b7652771b
21:41725611 MISSING C>T	21	41725611	41725611	C	T	MISSING				NC_000021.8:g.41725611C>T	VUS	1 lab	1b772aa6df
11:64577603 MEN1 G>T	11	64577603	64577603	G	T	MEN1	c.-22C>A	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64577603G>T	(Likely) benign	1 lab	1b787b9585
8:61757601 CHD7 C>T	8	61757601	61757601	C	T	CHD7	c.5029C>T	NM_017780.3	NP_060250.2:p.(Arg1677Ter)	NC_000008.10:g.61757601C>T	(Likely) pathogenic	1 lab	1b7a4366dd
16:31476199 ARMC5 C>T	16	31476199	31476199	C	T	ARMC5	c.1855C>T	NM_001105247.2	NP_001098717.1:p.(Arg619Ter)	NC_000016.9:g.31476199C>T	(Likely) pathogenic	1 lab	1b7afd108d
11:61724929 BEST1 A>G	11	61724929	61724929	A	G	BEST1	c.707A>G	NM_004183.3	NP_004174.1:p.(Tyr236Cys)	NC_000011.9:g.61724929A>G	(Likely) pathogenic	1 lab	1b7de48037
14:68191923 RDH12 C>A	14	68191923	68191923	C	A	RDH12	c.295C>A	NM_152443.2	NP_689656.2:p.(Leu99Ile)	NC_000014.8:g.68191923C>A	(Likely) pathogenic	1 lab	1b83182260
17:41244395 BRCA1 A>G	17	41244395	41244395	A	G	BRCA1	c.3153T>C	NM_007294.4	NP_009225.1:p.(Thr1051=)	NC_000017.10:g.41244395A>G	(Likely) benign	1 lab	1b83fdecb1
9:75303653 TMC1 C>T	9	75303653	75303653	C	T	TMC1	c.45C>T	NM_138691.2	NP_619636.2:p.(Asp15=)	NC_000009.11:g.75303653C>T	(Likely) benign	1 lab	1b84671514
2:167143122 SCN9A C>T	2	167143122	167143122	C	T	SCN9A	c.1326G>A	NM_002977.3	NP_002968.1:p.(Ala442=)	NC_000002.11:g.167143122C>T	(Likely) benign	1 lab	1b862b2ecc
11:694992 DEAF1 A>G	11	694992	694992	A	G	DEAF1	c.56T>C	NM_021008.3	NP_066288.2:p.(Val19Ala)	NC_000011.9:g.694992A>G	(Likely) benign	1 lab	021d38fd4e
2:86479035 REEP1 A>G	2	86479035	86479035	A	G	REEP1	c.417+45T>C	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86479035A>G	(Likely) benign	1 lab	1b89397122
2:47403656 CALM2 G>A	2	47403656	47403656	G	A	CALM2	c.25C>T	NM_001305624.1	NP_001292553.1:p.(Arg9Ter)	NC_000002.11:g.47403656G>A	VUS	1 lab	b8b6109028
19:33360575 SLC7A9 C>G	19	33360575	33360575	C	G	SLC7A9	c.-112+17G>C	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33360575C>G	(Likely) benign	1 lab	1b8a7ea678
3:184971804 EHHADH C>T	3	184971804	184971804	C	T	EHHADH	c.7G>A	NM_001966.3	NP_001957.2:p.(Glu3Lys)	NC_000003.11:g.184971804C>T	(Likely) pathogenic	1 lab	1b938cd8b1
16:23641767 PALB2 CT>C	16	23641767	23641772	CT	C	PALB2	c.1707del	NM_024675.3	NP_078951.2:p.(Glu570ArgfsTer29)	NC_000016.9:g.23641772del	(Likely) pathogenic	1 lab	1b949b29e2
12:8995965 A2ML1 C>T	12	8995965	8995965	C	T	A2ML1	c.1476+8C>T	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8995965C>T	(Likely) benign	1 lab	03506d4677
11:118360965 KMT2A G>T	11	118360965	118360965	G	T	KMT2A	c.4696+1G>T	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118360965G>T	(Likely) pathogenic	1 lab	1b9ab5efe8
12:48379984 COL2A1 C>T	12	48379984	48379984	C	T	COL2A1	c.1527+135G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48379984C>T	(Likely) pathogenic	1 lab	1b9dca5cae
3:38627632 SCN5A AGC>A	3	38627632	38627634	AGC	A	SCN5A	c.2437-102_2437-101del	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38627633_38627634del	(Likely) benign	1 lab	1b9f1f60c1
9:131013105 DNM1 C>G	9	131013105	131013105	C	G	DNM1	c.2420C>G	NM_004408.3	NP_004399.2:p.(Ser807Cys)	NC_000009.11:g.131013105C>G	(Likely) benign	1 lab	1b9f793734
6:129674307 LAMA2 A>G	6	129674307	129674307	A	G	LAMA2	c.4524-2A>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129674307A>G	(Likely) pathogenic	1 lab	1ba03ef946
22:51010416 CPT1B C>T	22	51010416	51010416	C	T	CPT1B	c.1575+19G>A	NM_004377.3	NP_004368.1:p.?	NC_000022.10:g.51010416C>T	(Likely) benign	1 lab	1ba0633f39
1:1471103 ATAD3A G>A	1	1471103	1471103	G	A	ATAD3A				NC_000001.10:g.1471103G>A	(Likely) benign	1 lab	1ba2c03934
19:38993234 RYR1 C>T	19	38993234	38993234	C	T	RYR1	c.7702C>T	NM_000540.2	NP_000531.2:p.(Leu2568Phe)	NC_000019.9:g.38993234C>T	VUS	1 lab	1ba3e293a0
6:152464871 SYNE1 G>A	6	152464871	152464871	G	A	SYNE1	c.25006C>T	NM_182961.3	NP_892006.3:p.(Arg8336Ter)	NC_000006.11:g.152464871G>A	(Likely) pathogenic	1 lab	1ba662874e
9:136004597 RALGDS C>T	9	136004597	136004597	C	T	RALGDS	c.19-17058G>A	NM_001042368.1	NP_001035827.1:p.?	NC_000009.11:g.136004597C>T	(Likely) benign	1 lab	b9602ef817
2:168114567 XIRP2 C>T	2	168114567	168114567	C	T	XIRP2	c.1610C>T	NM_001199143.1	NP_001186072.1:p.(Thr537Ile)	NC_000002.11:g.168114567C>T	(Likely) benign	1 lab	02204c78ea
10:73491848 CDH23 G>A	10	73491848	73491848	G	A	CDH23	c.3820G>A	NM_022124.6	NP_071407.4:p.(Glu1274Lys)	NC_000010.10:g.73491848G>A	VUS	1 lab	1bab8360be
2:48026861 MSH6 C>A	2	48026861	48026861	C	A	MSH6	c.1739C>A	NM_000179.2	NP_000170.1:p.(Ser580Ter)	NC_000002.11:g.48026861C>A	(Likely) pathogenic	1 lab	1bac3af932
2:133075033 ZNF285CP A>G	2	133075033	133075033	A	G	ZNF285CP	c.143-2708A>G	NM_001355461.1	NP_001342390.1:p.?	NC_000002.11:g.133075033A>G	VUS	1 lab	b9fdd87939
16:1261258 CACNA1H C>T	16	1261258	1261258	C	T	CACNA1H	c.4314C>T	NM_021098.3	NP_066921.2:p.(Cys1438=)	NC_000016.9:g.1261258C>T	(Likely) benign	1 lab	0221577a2d
7:94050355 COL1A2 G>A	7	94050355	94050355	G	A	COL1A2	c.2330G>A	NM_000089.4	NP_000080.2:p.(Arg777His)	NC_000007.13:g.94050355G>A	VUS	1 lab	1bad316e89
11:108201146 ATM A>T	11	108201146	108201146	A	T	ATM	c.7513A>T	NM_001351834.2	NP_001338763.1:p.(Lys2505Ter)	NC_000011.9:g.108201146A>T	(Likely) pathogenic	1 lab	1bad50f1c4
8:22033806 BMP1 T>C	8	22033806	22033806	T	C	BMP1	c.413T>C	NM_006129.4	NP_006120.1:p.(Val138Ala)	NC_000008.10:g.22033806T>C	VUS	1 lab	1bafc81235
2:48026596 MSH6 A>G	2	48026596	48026596	A	G	MSH6	c.1474A>G	NM_000179.3	NP_000170.1:p.(Met492Val)	NC_000002.11:g.48026596A>G	VUS	1 lab	1bb1f9e7f0
17:41201158 BRCA1 AAAGCTCCTTCACCACAG>A	17	41201158	41201179	AAAGCTCCTTCACCACAG	A	BRCA1	c.5369_5385del	NM_007294.3	NP_009225.1:p.(Ser1790PhefsTer34)	NC_000017.10:g.41201163_41201179del	(Likely) pathogenic	1 lab	1bb57ad7fc
1:215901531 USH2A T>A	1	215901531	215901531	T	A	USH2A	c.11907A>T	NM_206933.2	NP_996816.2:p.(Pro3969=)	NC_000001.10:g.215901531T>A	(Likely) benign	1 lab	1bb68b4914
15:99251042 IGF1R G>C	15	99251042	99251042	G	C	IGF1R	c.346G>C	NM_000875.5	NP_000866.1:p.(Ala116Pro)	NC_000015.9:g.99251042G>C	(Likely) pathogenic	1 lab	1bbb9de91c
14:69006916 RAD51B G>A	14	69006916	69006916	G	A	RAD51B	c.1037-62464G>A	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69006916G>A	(Likely) benign	1 lab	bba6aa7d5c
1:201016646 CACNA1S C>T	1	201016646	201016646	C	T	CACNA1S	c.4543+7G>A	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201016646C>T	(Likely) benign	1 lab	1bbfc00cfc
1:151378637 POGZ T>TGCTA	1	151378637	151378644	T	TGCTA	POGZ				NC_000001.10:g.151378641_151378644dup	(Likely) pathogenic	1 lab	1bc1681de6
X:38271191 OTC T>C	X	38271191	38271191	T	C	OTC	c.944T>C	NM_000531.5	NP_000522.3:p.(Val315Ala)	NC_000023.10:g.38271191T>C	(Likely) pathogenic	1 lab	1bc407cc56
3:189585694 TP63 C>T	3	189585694	189585694	C	T	TP63	c.955C>T	NM_003722.4	NP_003713.3:p.(Arg319Cys)	NC_000003.11:g.189585694C>T	(Likely) pathogenic	1 lab	1bcdc4f1a8
9:139397784 NOTCH1 T>C	9	139397784	139397784	T	C	NOTCH1	c.5019-2A>G	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139397784T>C	(Likely) pathogenic	1 lab	1bce4cdc0d
X:1317599 CRLF2 TACACAC>T	X	1317599	1317646	TACACAC	T	CRLF2	c.484-24_484-19del	NM_022148.4	NP_071431.2:p.?	NC_000023.10:g.1317641_1317646del	(Likely) benign	1 lab	0222ac9a05
9:117846503 TNC C>T	9	117846503	117846503	C	T	TNC				NC_000009.11:g.117846503C>T	(Likely) benign	1 lab	1bd63cfe8c
9:36222944 GNE G>T	9	36222944	36222944	G	T	GNE	c.1463C>A	NM_005476.5	NP_005467.1:p.(Ser488Ter)	NC_000009.11:g.36222944G>T	(Likely) pathogenic	1 lab	1bd6824b6d
13:32915053 BRCA2 T>C	13	32915053	32915053	T	C	BRCA2	c.6561T>C	NM_000059.4	NP_000050.3:p.(Pro2187=)	NC_000013.10:g.32915053T>C	(Likely) benign	1 lab	1bd793b444
16:4504842 DNAJA3 G>C	16	4504842	4504842	G	C	DNAJA3				NC_000016.9:g.4504842G>C	(Likely) benign	1 lab	1bd7c6623e
2:96919697 TMEM127 A>G	2	96919697	96919697	A	G	TMEM127	c.566T>C	NM_017849.3	NP_060319.1:p.(Leu189Pro)	NC_000002.11:g.96919697A>G	VUS	1 lab	1bda43bbcc
13:32900727 BRCA2 C>A	13	32900727	32900727	C	A	BRCA2	c.608C>A	NM_000059.3	NP_000050.2:p.(Thr203Asn)	NC_000013.10:g.32900727C>A	VUS	1 lab	1bdacfa556
10:75868804 VCL G>C	10	75868804	75868804	G	C	VCL	c.2635G>C	NM_014000.3	NP_054706.1:p.(Glu879Gln)	NC_000010.10:g.75868804G>C	VUS	1 lab	1bdb94d891
6:121768117 GJA1 G>C	6	121768117	121768117	G	C	GJA1	c.124G>C	NM_000165.4	NP_000156.1:p.(Glu42Gln)	NC_000006.11:g.121768117G>C	(Likely) pathogenic	1 lab	1bdc546e1f
6:152631565 SYNE1 C>T	6	152631565	152631565	C	T	SYNE1	c.16985G>A	NM_182961.3	NP_892006.3:p.(Arg5662His)	NC_000006.11:g.152631565C>T	(Likely) benign	1 lab	1bddfa2282
19:13340947 CACNA1A T>C	19	13340947	13340947	T	C	CACNA1A	c.5477A>G	NM_001127222.2	NP_001120694.1:p.(His1826Arg)	NC_000019.9:g.13340947T>C	VUS	1 lab	1bdf43e721
19:35524988 SCN1B C>T	19	35524988	35524988	C	T	SCN1B	c.448+345C>T	NM_001037.4	NP_001028.1:p.?	NC_000019.9:g.35524988C>T	(Likely) benign	1 lab	1be011b2b7
2:131355253 CFC1 C>G	2	131355253	131355253	C	G	CFC1	c.363-77G>C	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131355253C>G	(Likely) benign	1 lab	1be1de6a6b
11:118896407 LOC127822719 G>A	11	118896407	118896407	G	A	LOC127822719				NC_000011.9:g.118896407G>A	VUS	1 lab	1be2e7a4b0
X:100617576 BTK A>G	X	100617576	100617576	A	G	BTK	c.493T>C	NM_000061.2	NP_000052.1:p.(Cys165Arg)	NC_000023.10:g.100617576A>G	(Likely) pathogenic	1 lab	1be447ecdc
4:52894965 SGCB ATAGTCTGTGCT>A	4	52894965	52894976	ATAGTCTGTGCT	A	SGCB	c.541_551del	NM_000232.4	NP_000223.1:p.(Ser181Ter)	NC_000004.11:g.52894966_52894976del	(Likely) pathogenic	1 lab	1be8e86bab
11:63961718 STIP1 C>T	11	63961718	63961718	C	T	STIP1	c.418C>T	NM_001282652.1	NP_001269581.1:p.(Arg140Ter)	NC_000011.9:g.63961718C>T	VUS	1 lab	1be97f1c08
7:72339497 SPDYE7P T>C	7	72339497	72339497	T	C	SPDYE7P	n.955A>G	NR_168484.1		NC_000007.13:g.72339497T>C	VUS	1 lab	bbe6966a26
1:154560712 ADAR C>T	1	154560712	154560712	C	T	ADAR	c.2908G>A	NM_001111.4	NP_001102.2:p.(Ala970Thr)	NC_000001.10:g.154560712C>T	VUS	1 lab	1bebd182b3
X:38530633 TSPAN7 G>T	X	38530633	38530633	G	T	TSPAN7	c.274G>T	NM_004615.3	NP_004606.2:p.(Ala92Ser)	NC_000023.10:g.38530633G>T	(Likely) benign	1 lab	1bec0c67ef
1:236850104 ACTN2 GC>G	1	236850104	236850105	GC	G	ACTN2	c.126+6del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236850105del	(Likely) benign	1 lab	1becc49dda
12:112926888 PTPN11 G>A	12	112926888	112926888	G	A	PTPN11	c.1508G>A	NM_002834.5	NP_002825.3:p.(Gly503Glu)	NC_000012.11:g.112926888G>A	(Likely) pathogenic	1 lab	1bed145328
9:138664779 KCNT1 G>A	9	138664779	138664779	G	A	KCNT1	c.2227G>A	NM_020822.2	NP_065873.2:p.(Gly743Arg)	NC_000009.11:g.138664779G>A	(Likely) benign	1 lab	1c14f052e5
2:47705531 MSH2 TTGCATGTTTGCAACC>T	2	47705531	47705546	TTGCATGTTTGCAACC	T	MSH2	c.2332_2346del	NM_000251.3	NP_000242.1:p.(Cys778_Thr782del)	NC_000002.11:g.47705532_47705546del	VUS	1 lab	1bf561fec6
8:87660045 CNGB3 G>A	8	87660045	87660045	G	A	CNGB3	c.974C>T	NM_019098.5	NP_061971.3:p.(Ala325Val)	NC_000008.10:g.87660045G>A	VUS	1 lab	1bf86a20f7
8:100403881 VPS13B T>C	8	100403881	100403881	T	C	VPS13B	c.3031T>C	NM_017890.4	NP_060360.3:p.(Tyr1011His)	NC_000008.10:g.100403881T>C	(Likely) benign	1 lab	1bf87958a7
11:4045117 STIM1 C>T	11	4045117	4045117	C	T	STIM1	c.285C>T	NM_001277961.1	NP_001264890.1:p.(Asp95=)	NC_000011.9:g.4045117C>T	(Likely) benign	1 lab	022b3c5867
12:6103370 VWF C>T	12	6103370	6103370	C	T	VWF	c.6257-1G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6103370C>T	(Likely) pathogenic	1 lab	1bf955fba3
X:31165414 DMD C>T	X	31165414	31165414	C	T	DMD	c.10775G>A	NM_004006.2	NP_003997.1:p.(Arg3592Lys)	NC_000023.10:g.31165414C>T	VUS	1 lab	1c019f87bb
5:112176045 APC CA>C	5	112176045	112176048	CA	C	APC	c.4757del	NM_000038.6	NP_000029.2:p.(Lys1586SerfsTer64)	NC_000005.9:g.112176048del	(Likely) pathogenic	1 lab	1c02bd7708
13:32950823 BRCA2 A>G	13	32950823	32950823	A	G	BRCA2	c.8649A>G	NM_000059.3	NP_000050.2:p.(Pro2883=)	NC_000013.10:g.32950823A>G	(Likely) benign	1 lab	1c0343b386
2:179478746 TTN CT>C	2	179478746	179478756	CT	C	TTN	c.49345+32del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179478756del	(Likely) benign	1 lab	1c042f8a4b
6:90642510 BACH2 G>A	6	90642510	90642510	G	A	BACH2	c.2143C>T	NM_021813.3	NP_068585.1:p.(Arg715Ter)	NC_000006.11:g.90642510G>A	VUS	1 lab	1c0b326192
3:58129326 FLNB G>T	3	58129326	58129326	G	T	FLNB	c.5411G>T	NM_001457.4	NP_001448.2:p.(Gly1804Val)	NC_000003.11:g.58129326G>T	(Likely) pathogenic	1 lab	1c1016da6f
5:161524807 GABRG2 C>A	5	161524807	161524807	C	A	GABRG2				NC_000005.9:g.161524807C>A	VUS	1 lab	1c101f86e9
12:111358298 MYL2 G>A	12	111358298	111358298	G	A	MYL2	c.3+33C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111358298G>A	(Likely) benign	1 lab	1c12cc43bd
2:179644022 TTN A>G	2	179644022	179644022	A	G	TTN	c.3897T>C	NM_001267550.2	NP_001254479.2:p.(Asn1299=)	NC_000002.11:g.179644022A>G	(Likely) benign	1 lab	1c15858fca
7:149492732 SSPOP C>T	7	149492732	149492732	C	T	SSPOP	n.6808C>T	NR_163594.1		NC_000007.13:g.149492732C>T	VUS	1 lab	bd8a13b489
2:9630536 ADAM17 G>A	2	9630536	9630536	G	A	ADAM17	c.2245C>T	NM_003183.6	NP_003174.3:p.(Pro749Ser)	NC_000002.11:g.9630536G>A	(Likely) benign	1 lab	02319bb37b
1:196965015 CFHR5 T>A	1	196965015	196965015	T	A	CFHR5	c.776T>A	NM_030787.4	NP_110414.1:p.(Leu259Ter)	NC_000001.10:g.196965015T>A	(Likely) pathogenic	1 lab	1c2077b43b
X:153582670 FLNA G>T	X	153582670	153582670	G	T	FLNA	c.5417-11C>A	NM_001110556.1	NP_001104026.1:p.?	NC_000023.10:g.153582670G>T	VUS	1 lab	1c211be46e
7:101916646 CUX1 C>T	7	101916646	101916646	C	T	CUX1	c.1217C>T	NM_001202544.1	NP_001189473.1:p.(Ala406Val)	NC_000007.13:g.101916646C>T	(Likely) benign	1 lab	bdc8b613ec
16:2155426 PKD1 T>C	16	2155426	2155426	T	C	PKD1	c.7913A>G	NM_001009944.2	NP_001009944.2:p.(His2638Arg)	NC_000016.9:g.2155426T>C	(Likely) benign	1 lab	1c2cca845a
5:67592076 PIK3R1 G>A	5	67592076	67592076	G	A	PIK3R1	c.1082G>A	NM_181504.4	NP_852556.2:p.(Arg361Gln)	NC_000005.9:g.67592076G>A	(Likely) pathogenic	1 lab	1c2d719e4b
2:202572614 ALS2 G>A	2	202572614	202572614	G	A	ALS2	c.4381C>T	NM_020919.3	NP_065970.2:p.(Arg1461Ter)	NC_000002.11:g.202572614G>A	(Likely) pathogenic	1 lab	1c3053d65c
7:91659224 AKAP9 G>A	7	91659224	91659224	G	A	AKAP9	c.4164G>A	NM_005751.4	NP_005742.4:p.(Ser1388=)	NC_000007.13:g.91659224G>A	(Likely) benign	1 lab	1c30ac3cb6
1:247593058 NLRP3 G>A	1	247593058	247593058	G	A	NLRP3	c.2321+1G>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247593058G>A	VUS	1 lab	1c30ba7ad1
19:49703615 TRPM4 T>C	19	49703615	49703615	T	C	TRPM4	c.2704T>C	NM_017636.3	NP_060106.2:p.(Phe902Leu)	NC_000019.9:g.49703615T>C	VUS	1 lab	1c31302855
12:49441833 KMT2D C>A	12	49441833	49441833	C	A	KMT2D	c.4151G>T	NM_003482.4	NP_003473.3:p.(Gly1384Val)	NC_000012.11:g.49441833C>A	(Likely) pathogenic	1 lab	1c319799d1
8:61735148 CHD7 T>C	8	61735148	61735148	T	C	CHD7	c.3044T>C	NM_017780.3	NP_060250.2:p.(Ile1015Thr)	NC_000008.10:g.61735148T>C	VUS	1 lab	1c355b0a41
2:179640919 TTN T>C	2	179640919	179640919	T	C	TTN	c.5672A>G	NM_001267550.2	NP_001254479.2:p.(Tyr1891Cys)	NC_000002.11:g.179640919T>C	VUS	1 lab	1c3634ec44
10:112572398 RBM20 CTG>C	10	112572398	112572403	CTG	C	RBM20	c.2247_2248del	NM_001134363.3	NP_001127835.2:p.(Ser750GlnfsTer6)	NC_000010.10:g.112572402_112572403del	(Likely) pathogenic	1 lab	1c3a08df10
22:30051667 NF2 T>A	22	30051667	30051667	T	A	NF2	c.599+2T>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30051667T>A	(Likely) pathogenic	1 lab	1c3e858d6c
3:193332660 OPA1 C>T	3	193332660	193332660	C	T	OPA1	c.181C>T	NM_130837.2	NP_570850.2:p.(Gln61Ter)	NC_000003.11:g.193332660C>T	(Likely) pathogenic	1 lab	1c42a9d7a5
11:36615190 RAG2 C>G	11	36615190	36615190	C	G	RAG2	c.529G>C	NM_000536.3	NP_000527.2:p.(Asp177His)	NC_000011.9:g.36615190C>G	VUS	1 lab	1c45db4a50
6:76660551 IMPG1 G>C	6	76660551	76660551	G	C	IMPG1	c.1552C>G	NM_001563.3	NP_001554.2:p.(His518Asp)	NC_000006.11:g.76660551G>C	(Likely) benign	1 lab	1c46aa4a7a
10:26446342 MYO3A AG>A	10	26446342	26446343	AG	A	MYO3A				NC_000010.10:g.26446343del	(Likely) pathogenic	1 lab	1c482f06ea
7:138430000 ATP6V0A4 C>T	7	138430000	138430000	C	T	ATP6V0A4	c.1346G>A	NM_020632.2	NP_065683.2:p.(Arg449His)	NC_000007.13:g.138430000C>T	(Likely) pathogenic	1 lab	1c4a571541
11:108121665 ATM C>G	11	108121665	108121665	C	G	ATM	c.1473C>G	NM_000051.3	NP_000042.3:p.(Thr491=)	NC_000011.9:g.108121665C>G	(Likely) benign	1 lab	1c4d40701c
X:153608132 EMD C>A	X	153608132	153608132	C	A	EMD	c.165C>A	NM_000117.2	NP_000108.1:p.(Ala55=)	NC_000023.10:g.153608132C>A	(Likely) benign	1 lab	1c4dca7b39
9:124976585 LHX6 A>G	9	124976585	124976585	A	G	LHX6	c.760T>C	NM_014368.4	NP_055183.2:p.(Ser254Pro)	NC_000009.11:g.124976585A>G	VUS	1 lab	1c4dce680d
10:123247549 FGFR2 C>T	10	123247549	123247549	C	T	FGFR2	c.1942G>A	NM_000141.5	NP_000132.3:p.(Ala648Thr)	NC_000010.10:g.123247549C>T	(Likely) pathogenic	1 lab	1c5082a0aa
11:76872169 MYO7A G>A	11	76872169	76872169	G	A	MYO7A	c.1343+8G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76872169G>A	(Likely) benign	1 lab	1c58468fdc
1:237780697 RYR2 C>T	1	237780697	237780697	C	T	RYR2	c.5827C>T	NM_001035.3	NP_001026.2:p.(Arg1943Ter)	NC_000001.10:g.237780697C>T	VUS	1 lab	1c5b95ba18
8:61761698 CHD7 G>A	8	61761698	61761698	G	A	CHD7	c.5389G>A	NM_017780.3	NP_060250.2:p.(Gly1797Arg)	NC_000008.10:g.61761698G>A	(Likely) pathogenic	1 lab	1c5bf9d27f
17:18077169 MYO15A C>A	17	18077169	18077169	C	A	MYO15A	c.10425C>A	NM_016239.3	NP_057323.3:p.(Tyr3475Ter)	NC_000017.10:g.18077169C>A	(Likely) pathogenic	1 lab	1c5e9f367e
16:21734239 OTOA C>T	16	21734239	21734239	C	T	OTOA	c.1820C>T	NM_144672.3	NP_653273.3:p.(Ala607Val)	NC_000016.9:g.21734239C>T	VUS	1 lab	1c61be50ae
8:55537229 RP1 G>A	8	55537229	55537229	G	A	RP1				NC_000008.10:g.55537229G>A	(Likely) pathogenic	1 lab	1c63b22579
11:108155020 ATM T>G	11	108155020	108155020	T	G	ATM	c.3813T>G	NM_000051.4	NP_000042.3:p.(Ile1271Met)	NC_000011.9:g.108155020T>G	VUS	1 lab	1c6520c45e
10:89692768 PTEN A>G	10	89692768	89692768	A	G	PTEN	c.254-2A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89692768A>G	(Likely) pathogenic	1 lab	1c6c33474c
18:31324922 ASXL3 C>T	18	31324922	31324922	C	T	ASXL3	c.5110C>T	NM_030632.3	NP_085135.1:p.(Gln1704Ter)	NC_000018.9:g.31324922C>T	(Likely) pathogenic	1 lab	1c6fb7163c
5:36143309 LMBRD2 A>G	5	36143309	36143309	A	G	LMBRD2	c.143T>C	NM_001007527.2	NP_001007528.1:p.(Ile48Thr)	NC_000005.9:g.36143309A>G	VUS	1 lab	1c70a2b767
6:121768061 GJA1 A>T	6	121768061	121768061	A	T	GJA1	c.68A>T	NM_000165.3	NP_000156.1:p.(Lys23Met)	NC_000006.11:g.121768061A>T	(Likely) pathogenic	1 lab	1c7123acb5
2:241813496 AGXT C>T	2	241813496	241813496	C	T	AGXT	c.680+17C>T	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241813496C>T	(Likely) benign	1 lab	1c7249d509
X:107829907 COL4A5 G>C	X	107829907	107829907	G	C	COL4A5	c.1095G>C	NM_033380.3	NP_203699.1:p.(Gly365=)	NC_000023.10:g.107829907G>C	(Likely) benign	1 lab	1c7319ed97
X:135827388 ARHGEF6 CTT>C	X	135827388	135827391	CTT	C	ARHGEF6	c.451_452del	NM_004840.3	NP_004831.1:p.(Lys151AspfsTer21)	NC_000023.10:g.135827390_135827391del	VUS	1 lab	1c75c68c78
1:16461529 EPHA2 A>C	1	16461529	16461529	A	C	EPHA2	c.1582+2T>G	NM_004431.5	NP_004422.2:p.?	NC_000001.10:g.16461529A>C	(Likely) pathogenic	1 lab	1c77428aad
12:112915750 PTPN11 T>C	12	112915750	112915750	T	C	PTPN11	c.1023T>C	NM_002834.3	NP_002825.3:p.(Phe341=)	NC_000012.11:g.112915750T>C	(Likely) benign	1 lab	1c77f6b416
13:32913105 BRCA2 C>T	13	32913105	32913105	C	T	BRCA2	c.4613C>T	NM_000059.3	NP_000050.2:p.(Ser1538Phe)	NC_000013.10:g.32913105C>T	(Likely) benign	1 lab	1c780f051b
1:169521853 F5 A>G	1	169521853	169521853	A	G	F5	c.1238T>C	NM_000130.4	NP_000121.2:p.(Met413Thr)	NC_000001.10:g.169521853A>G	(Likely) benign	1 lab	1c792c5981
8:11614329 GATA4 C>T	8	11614329	11614329	C	T	GATA4	c.998-115C>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11614329C>T	(Likely) benign	1 lab	1c7c4d22fa
17:48141956 ITGA3 T>C	17	48141956	48141956	T	C	ITGA3	c.399T>C	NM_002204.4	NP_002195.1:p.(Pro133=)	NC_000017.10:g.48141956T>C	(Likely) benign	1 lab	0235de260f
14:21870623 CHD8 C>T	14	21870623	21870623	C	T	CHD8	c.3754G>A	NM_001170629.2	NP_001164100.1:p.(Val1252Met)	NC_000014.8:g.21870623C>T	(Likely) pathogenic	1 lab	1c80073340
2:32288998 SPAST C>T	2	32288998	32288998	C	T	SPAST	c.98C>T	NM_014946.3	NP_055761.2:p.(Pro33Leu)	NC_000002.11:g.32288998C>T	VUS	1 lab	1c8060c1fe
6:10398707 TFAP2A G>A	6	10398707	10398707	G	A	TFAP2A	c.1239C>T	NM_001032280.2	NP_001027451.1:p.(Asn413=)	NC_000006.11:g.10398707G>A	(Likely) benign	1 lab	1c82eb1520
7:83764184 SEMA3A G>A	7	83764184	83764184	G	A	SEMA3A	c.196C>T	NM_006080.2	NP_006071.1:p.(Arg66Trp)	NC_000007.13:g.83764184G>A	VUS	1 lab	1c8443e36d
16:1497064 CLCN7 G>C	16	1497064	1497064	G	C	CLCN7	c.2274C>G	NM_001287.5	NP_001278.1:p.(Phe758Leu)	NC_000016.9:g.1497064G>C	(Likely) pathogenic	1 lab	1c85becfdd
3:38951588 SCN11A G>A	3	38951588	38951588	G	A	SCN11A	c.1070C>T	NM_001349253.2	NP_001336182.1:p.(Thr357Ile)	NC_000003.11:g.38951588G>A	VUS	1 lab	1c864b457d
4:155510651 FGA CA>C	4	155510651	155510653	CA	C	FGA	c.117del	NM_021871.2	NP_068657.1:p.(Val40TrpfsTer31)	NC_000004.11:g.155510653del	(Likely) pathogenic	1 lab	1c88056bf7
17:41209103 BRCA1 C>T	17	41209103	41209103	C	T	BRCA1	c.5243G>A	NM_007294.4	NP_009225.1:p.(Gly1748Asp)	NC_000017.10:g.41209103C>T	(Likely) pathogenic	1 lab	1c8834d2c2
1:103352479 COL11A1 C>A	1	103352479	103352479	C	A	COL11A1	c.4742G>T	NM_001854.3	NP_001845.3:p.(Gly1581Val)	NC_000001.10:g.103352479C>A	VUS	1 lab	1c88a1150c
21:43803308 TMPRSS3 C>A	21	43803308	43803308	C	A	TMPRSS3	c.617-1G>T	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43803308C>A	(Likely) pathogenic	1 lab	1c89aa50b9
2:228141146 COL4A3 C>T	2	228141146	228141146	C	T	COL4A3	c.1973C>T	NM_000091.4	NP_000082.2:p.(Pro658Leu)	NC_000002.11:g.228141146C>T	VUS	1 lab	1c89f56174
13:23910511 SACS G>A	13	23910511	23910511	G	A	SACS				NC_000013.10:g.23910511G>A	(Likely) pathogenic	1 lab	a0dbc4a222
1:41283836 KCNQ4 G>A	1	41283836	41283836	G	A	KCNQ4	c.406G>A	NM_004700.3	NP_004691.2:p.(Glu136Lys)	NC_000001.10:g.41283836G>A	VUS	1 lab	1c8b34e899
X:53277371 IQSEC2 G>A	X	53277371	53277371	G	A	IQSEC2	c.2507C>T	NM_001111125.2	NP_001104595.1:p.(Ala836Val)	NC_000023.10:g.53277371G>A	VUS	1 lab	1c8ddf9517
X:128691333 OCRL G>A	X	128691333	128691333	G	A	OCRL	c.270G>A	NM_000276.3	NP_000267.2:p.(Trp90Ter)	NC_000023.10:g.128691333G>A	(Likely) pathogenic	1 lab	1c8e2d0b7d
1:229567922 ACTA1 C>G	1	229567922	229567922	C	G	ACTA1	c.627G>C	NM_001100.3	NP_001091.1:p.(Glu209Asp)	NC_000001.10:g.229567922C>G	VUS	1 lab	1c8f3d6ee3
2:227967507 COL4A4 G>A	2	227967507	227967507	G	A	COL4A4	c.928C>T	NM_000092.5	NP_000083.3:p.(Arg310Trp)	NC_000002.11:g.227967507G>A	VUS	1 lab	1c94c12fff
18:43497710 EPG5 A>G	18	43497710	43497710	A	G	EPG5	c.3173T>C	NM_020964.2	NP_066015.2:p.(Val1058Ala)	NC_000018.9:g.43497710A>G	(Likely) benign	1 lab	1c97b77bbe
12:2695051 CACNA1C C>A	12	2695051	2695051	C	A	CACNA1C	c.2511C>A	NM_000719.7	NP_000710.5:p.(Tyr837Ter)	NC_000012.11:g.2695051C>A	(Likely) pathogenic	1 lab	1c98c2111f
1:12953118 PRAMEF10 T>C	1	12953118	12953118	T	C	PRAMEF10	c.1054A>G	NM_001039361.3	NP_001034450.2:p.(Lys352Glu)	NC_000001.10:g.12953118T>C	(Likely) benign	1 lab	c0fa1fe97a
20:57428316 GNAS G>A	20	57428316	57428316	G	A	GNAS	c.-192G>A	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428316G>A	VUS	1 lab	c13af2e75e
12:114832360 TBX5 T>C	12	114832360	114832360	T	C	TBX5	c.663+186A>G	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114832360T>C	(Likely) benign	1 lab	1c9c2dbf80
8:22852101 RHOBTB2 A>C	8	22852101	22852101	A	C	RHOBTB2	c.5A>C	NM_001160036.1	NP_001153508.1:p.(Gln2Pro)	NC_000008.10:g.22852101A>C	(Likely) benign	1 lab	c1995f2203
X:7870101 PNPLA4 G>A	X	7870101	7870101	G	A	PNPLA4				NC_000023.10:g.7870101G>A	(Likely) pathogenic	1 lab	1ca07b5d6f
5:14367062 TRIO C>T	5	14367062	14367062	C	T	TRIO	c.2848C>T	NM_007118.4	NP_009049.2:p.(His950Tyr)	NC_000005.9:g.14367062C>T	(Likely) benign	1 lab	1ca16323a0
1:243828121 AKT3 C>G	1	243828121	243828121	C	G	AKT3	c.237G>C	NM_005465.4	NP_005456.1:p.(Trp79Cys)	NC_000001.10:g.243828121C>G	(Likely) pathogenic	1 lab	1ca27867c0
4:122791601 BBS7 G>C	4	122791601	122791601	G	C	BBS7	c.-133C>G	NM_176824.2	NP_789794.1:p.?	NC_000004.11:g.122791601G>C	(Likely) benign	1 lab	1ca37865dc
20:49510040 ADNP G>T	20	49510040	49510040	G	T	ADNP	c.1211C>A	NM_015339.2	NP_056154.1:p.(Ser404Ter)	NC_000020.10:g.49510040G>T	(Likely) pathogenic	1 lab	1ca44ce28d
X:100492660 DRP2 C>T	X	100492660	100492660	C	T	DRP2	c.334C>T	NM_001939.3	NP_001930.2:p.(Gln112Ter)	NC_000023.10:g.100492660C>T	VUS	1 lab	1ca45b9bf3
22:29090021 CHEK2 T>C	22	29090021	29090021	T	C	CHEK2	c.1460A>G	NM_007194.4	NP_009125.1:p.(Gln487Arg)	NC_000022.10:g.29090021T>C	VUS	1 lab	1ca53e4a25
1:11301649 MTOR A>G	1	11301649	11301649	A	G	MTOR	c.1502T>C	NM_004958.4	NP_004949.1:p.(Ile501Thr)	NC_000001.10:g.11301649A>G	VUS	1 lab	1caac9240e
6:32035624 TNXB C>T	6	32035624	32035624	C	T	TNXB	c.6358G>A	NM_001365276.2	NP_001352205.1:p.(Gly2120Ser)	NC_000006.11:g.32035624C>T	VUS	1 lab	1cafaa149a
8:145150101 CYC1 T>G	8	145150101	145150101	T	G	CYC1	c.99T>G	NM_001916.4	NP_001907.2:p.(Arg33=)	NC_000008.10:g.145150101T>G	(Likely) benign	1 lab	1cb59e44cd
4:126336875 FAT4 A>C	4	126336875	126336875	A	C	FAT4	c.6757A>C	NM_001291303.1	NP_001278232.1:p.(Asn2253His)	NC_000004.11:g.126336875A>C	VUS	1 lab	1cb6a5302c
10:69556933 DNAJC12 G>A	10	69556933	69556933	G	A	DNAJC12	c.538C>T	NM_021800.3	NP_068572.1:p.(Arg180Cys)	NC_000010.10:g.69556933G>A	VUS	1 lab	1cb902f8a4
15:89864114 POLG T>C	15	89864114	89864114	T	C	POLG	c.2864A>G	NM_002693.2	NP_002684.1:p.(Tyr955Cys)	NC_000015.9:g.89864114T>C	(Likely) pathogenic	1 lab	1cb953eccb
3:38616726 SCN5A T>TCCCTG	3	38616726	38616735	T	TCCCTG	SCN5A	c.3666+57_3666+61dup	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38616731_38616735dup	VUS	1 lab	1cba19aab7
10:73199588 CDH23 C>T	10	73199588	73199588	C	T	CDH23	c.-1C>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73199588C>T	(Likely) benign	1 lab	a523d4a488
6:37606304 MDGA1 C>T	6	37606304	37606304	C	T	MDGA1	c.2667+9G>A	NM_153487.3	NP_705691.1:p.?	NC_000006.11:g.37606304C>T	(Likely) benign	1 lab	1cbaf2d95d
19:36330456 NPHS1 C>T	19	36330456	36330456	C	T	NPHS1	c.2869G>A	NM_004646.4	NP_004637.1:p.(Val957Met)	NC_000019.9:g.36330456C>T	VUS	1 lab	1cbcfd3086
10:21106636 NEBL T>C	10	21106636	21106636	T	C	NEBL	c.2056-15A>G	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21106636T>C	(Likely) benign	1 lab	1cbf57a2e5
16:89351777 ANKRD11 G>C	16	89351777	89351777	G	C	ANKRD11	c.1173C>G	NM_001256182.1	NP_001243111.1:p.(Tyr391Ter)	NC_000016.9:g.89351777G>C	(Likely) pathogenic	1 lab	1cc1306275
8:22865224 RHOBTB2 G>A	8	22865224	22865224	G	A	RHOBTB2	c.1466G>A	NM_015178.3	NP_055993.2:p.(Arg489Gln)	NC_000008.10:g.22865224G>A	(Likely) pathogenic	1 lab	1cc50cce3c
8:1844569 ARHGEF10 T>G	8	1844569	1844569	T	G	ARHGEF10	c.1511T>G	NM_014629.4	NP_055444.2:p.(Leu504Arg)	NC_000008.10:g.1844569T>G	VUS	1 lab	1cc8fe734d
12:130647870 FZD10 G>T	12	130647870	130647870	G	T	FZD10	c.383G>T	NM_007197.3	NP_009128.1:p.(Trp128Leu)	NC_000012.11:g.130647870G>T	VUS	1 lab	1ccaf5b640
7:30694422 CRHR2 G>C	7	30694422	30694422	G	C	CRHR2	c.1098C>G	NM_001202483.1	NP_001189412.1:p.(Ser366Arg)	NC_000007.13:g.30694422G>C	(Likely) benign	1 lab	0236ef340e
9:73946799 TRPM3 GGAAGA>G	9	73946799	73946804	GGAAGA	G	TRPM3	c.183+114765_183+114769del	NM_001366141.2	NP_001353070.1:p.?	NC_000009.11:g.73946800_73946804del	(Likely) benign	1 lab	c2cc72df5c
4:981676 IDUA G>A	4	981676	981676	G	A	IDUA	c.238G>A	NM_000203.3	NP_000194.2:p.(Val80Ile)	NC_000004.11:g.981676G>A	(Likely) benign	1 lab	1cd2e8d8d6
1:143767424 PPIAL4G A>G	1	143767424	143767424	A	G	PPIAL4G	c.425T>C	NM_001123068.1	NP_001116540.1:p.(Met142Thr)	NC_000001.10:g.143767424A>G	VUS	1 lab	c2ddd58f7b
X:85212858 CHM A>G	X	85212858	85212858	A	G	CHM	c.940+2T>C	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85212858A>G	(Likely) pathogenic	1 lab	1cd586a630
16:28498844 CLN3 ACT>A	16	28498844	28498846	ACT	A	CLN3	c.391_392del	NM_001042432.2	NP_001035897.1:p.(Ser131TrpfsTer28)	NC_000016.9:g.28498845_28498846del	(Likely) pathogenic	1 lab	1cd5df6f17
13:32953432 BRCA2 C>T	13	32953432	32953432	C	T	BRCA2	c.8755-22C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953432C>T	(Likely) benign	1 lab	1cd8501553
5:37337944 NUP155 G>A	5	37337944	37337944	G	A	NUP155	c.1323C>T	NM_153485.2	NP_705618.1:p.(Phe441=)	NC_000005.9:g.37337944G>A	(Likely) benign	1 lab	1cd89c49a2
5:73992558 HEXB T>G	5	73992558	73992558	T	G	HEXB	c.552T>G	NM_000521.3	NP_000512.1:p.(Tyr184Ter)	NC_000005.9:g.73992558T>G	(Likely) pathogenic	1 lab	1cda0ae9d7
X:32364116 DMD G>A	X	32364116	32364116	G	A	DMD	c.5530C>T	NM_004006.2	NP_003997.1:p.(Arg1844Ter)	NC_000023.10:g.32364116G>A	(Likely) pathogenic	1 lab	1cdb1d55c2
2:167288879 SCN7A A>G	2	167288879	167288879	A	G	SCN7A	c.2541T>C	NM_002976.3	NP_002967.2:p.(Asn847=)	NC_000002.11:g.167288879A>G	(Likely) benign	1 lab	1cdbf9a73d
3:47079160 SETD2 A>G	3	47079160	47079160	A	G	SETD2	c.7346T>C	NM_014159.6	NP_054878.5:p.(Met2449Thr)	NC_000003.11:g.47079160A>G	VUS	1 lab	1ce049a9c5
11:118368780 KMT2A A>T	11	118368780	118368780	A	T	KMT2A	c.5794A>T	NM_001197104.1	NP_001184033.1:p.(Lys1932Ter)	NC_000011.9:g.118368780A>T	(Likely) pathogenic	1 lab	1ce74afc7e
21:47410173 COL6A1 G>T	21	47410173	47410173	G	T	COL6A1	c.932G>T	NM_001848.2	NP_001839.2:p.(Gly311Val)	NC_000021.8:g.47410173G>T	(Likely) pathogenic	1 lab	1ce8391bd2
1:147380843 GJA8 C>T	1	147380843	147380843	C	T	GJA8	c.761C>T	NM_005267.5	NP_005258.2:p.(Ser254Phe)	NC_000001.10:g.147380843C>T	VUS	1 lab	1ceaa288cd
4:120079227 MYOZ2 T>G	4	120079227	120079227	T	G	MYOZ2	c.297T>G	NM_016599.4	NP_057683.1:p.(Gly99=)	NC_000004.11:g.120079227T>G	(Likely) benign	1 lab	1cefda710a
11:17618555 OTOG G>A	11	17618555	17618555	G	A	OTOG	c.3718+1G>A	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17618555G>A	(Likely) pathogenic	1 lab	1cf0d6de5e
13:32890665 BRCA2 G>T	13	32890665	32890665	G	T	BRCA2	c.67+1G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890665G>T	(Likely) pathogenic	1 lab	023b1ecd61
2:32353529 SPAST C>T	2	32353529	32353529	C	T	SPAST				NC_000002.11:g.32353529C>T	(Likely) pathogenic	1 lab	1d27b330f8
11:108098414 ATM A>G	11	108098414	108098414	A	G	ATM	c.63A>G	NM_000051.4	NP_000042.3:p.(Thr21=)	NC_000011.9:g.108098414A>G	(Likely) benign	1 lab	1cfa948225
14:31355270 COCH A>G	14	31355270	31355270	A	G	COCH	c.1229A>G	NM_004086.3	NP_004077.1:p.(Gln410Arg)	NC_000014.8:g.31355270A>G	VUS	1 lab	1cfb8d0375
18:44057718 LOXHD1 C>T	18	44057718	44057718	C	T	LOXHD1	c.6353G>A	NM_144612.6	NP_653213.6:p.(Gly2118Glu)	NC_000018.9:g.44057718C>T	(Likely) pathogenic	1 lab	1cfed97591
10:89717733 PTEN T>C	10	89717733	89717733	T	C	PTEN	c.758T>C	NM_000314.8	NP_000305.3:p.(Ile253Thr)	NC_000010.10:g.89717733T>C	(Likely) pathogenic	1 lab	1d0118e11a
11:47354789 MYBPC3 C>A	11	47354789	47354789	C	A	MYBPC3	c.3286G>T	NM_000256.3	NP_000247.2:p.(Glu1096Ter)	NC_000011.9:g.47354789C>A	(Likely) pathogenic	1 lab	1d0137b4f6
X:70339852 MED12 A>T	X	70339852	70339852	A	T	MED12	c.397-12A>T	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70339852A>T	(Likely) benign	1 lab	023b2ff7b0
3:129249869 RHO C>A	3	129249869	129249869	C	A	RHO	c.512C>A	NM_000539.3	NP_000530.1:p.(Pro171Gln)	NC_000003.11:g.129249869C>A	(Likely) pathogenic	1 lab	1d07a0ff84
9:75315444 TMC1 G>T	9	75315444	75315444	G	T	TMC1	c.247G>T	NM_138691.2	NP_619636.2:p.(Glu83Ter)	NC_000009.11:g.75315444G>T	(Likely) pathogenic	1 lab	1d0c8cfa1a
5:90106048 ADGRV1 A>G	5	90106048	90106048	A	G	ADGRV1	c.14973-2A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90106048A>G	(Likely) pathogenic	1 lab	1d0d8f3aed
12:46285646 ARID2 G>A	12	46285646	46285646	G	A	ARID2	c.5006G>A	NM_152641.3	NP_689854.2:p.(Trp1669Ter)	NC_000012.11:g.46285646G>A	(Likely) pathogenic	1 lab	1d18917c23
18:33785185 MOCOS A>G	18	33785185	33785185	A	G	MOCOS	c.1164A>G	NM_017947.2	NP_060417.2:p.(Pro388=)	NC_000018.9:g.33785185A>G	(Likely) benign	1 lab	1d1aa3264c
1:179520523 NPHS2 A>G	1	179520523	179520523	A	G	NPHS2	c.937T>C	NM_014625.3	NP_055440.1:p.(Ser313Pro)	NC_000001.10:g.179520523A>G	VUS	1 lab	023b59f2c6
4:6302906 WFS1 G>C	4	6302906	6302906	G	C	WFS1	c.1384G>C	NM_006005.3	NP_005996.2:p.(Glu462Gln)	NC_000004.11:g.6302906G>C	VUS	1 lab	1d2455a9c8
3:38674755 SCN5A C>G	3	38674755	38674755	C	G	SCN5A	c.44G>C	NM_198056.2	NP_932173.1:p.(Arg15Thr)	NC_000003.11:g.38674755C>G	VUS	1 lab	1d2515e039
3:193385037 OPA1 C>G	3	193385037	193385037	C	G	OPA1	c.2951C>G	NM_130837.2	NP_570850.2:p.(Thr984Ser)	NC_000003.11:g.193385037C>G	VUS	1 lab	1d290a1d85
2:179463532 TTN C>T	2	179463532	179463532	C	T	TTN	c.56905G>A	NM_001267550.2	NP_001254479.2:p.(Ala18969Thr)	NC_000002.11:g.179463532C>T	VUS	1 lab	1d2ec10d39
16:23625418 PALB2 A>C	16	23625418	23625418	A	C	PALB2	c.3114-6T>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23625418A>C	VUS	1 lab	1db3e1a423
2:10961042 PDIA6 G>A	2	10961042	10961042	G	A	PDIA6	c.-52C>T	NM_001282704.1	NP_001269633.1:p.?	NC_000002.11:g.10961042G>A	VUS	1 lab	c5a4ab640e
2:179407653 TTN T>G	2	179407653	179407653	T	G	TTN	c.96928A>C	NM_001267550.2	NP_001254479.2:p.(Thr32310Pro)	NC_000002.11:g.179407653T>G	VUS	1 lab	1d301a53b9
2:44513238 SLC3A1 T>G	2	44513238	44513238	T	G	SLC3A1	c.833T>G	NM_000341.4	NP_000332.2:p.(Phe278Cys)	NC_000002.11:g.44513238T>G	(Likely) pathogenic	1 lab	1d34c13c60
1:228481947 OBSCN G>A	1	228481947	228481947	G	A	OBSCN	c.12513G>A	NM_001271223.2	NP_001258152.2:p.(Pro4171=)	NC_000001.10:g.228481947G>A	(Likely) benign	1 lab	1d3939db29
2:50246205 NRXN1 A>C	2	50246205	50246205	A	C	NRXN1	c.4038+34204T>G	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50246205A>C	(Likely) benign	1 lab	023b7c1a97
7:116435774 MET C>T	7	116435774	116435774	C	T	MET	c.3864C>T	NM_000245.3	NP_000236.2:p.(Asn1288=)	NC_000007.13:g.116435774C>T	(Likely) benign	1 lab	1d3b210744
5:74670023 CERT1 GAAA>G	5	74670023	74670041	GAAA	G	CERT1	c.*10-10_*10-8del	NM_001130105.1	NP_001123577.1:p.?	NC_000005.9:g.74670039_74670041del	(Likely) benign	1 lab	c3c23b8a8a
2:27703012 IFT172 G>A	2	27703012	27703012	G	A	IFT172	c.790C>T	NM_015662.3	NP_056477.1:p.(Arg264Trp)	NC_000002.11:g.27703012G>A	VUS	1 lab	1d3dc0a0a2
1:152281228 FLG C>G	1	152281228	152281228	C	G	FLG	c.6134G>C	NM_002016.1	NP_002007.1:p.(Ser2045Thr)	NC_000001.10:g.152281228C>G	(Likely) benign	1 lab	1d3e3deeee
15:69709792 KIF23 C>T	15	69709792	69709792	C	T	KIF23	c.152C>T	NM_138555.3	NP_612565.1:p.(Thr51Ile)	NC_000015.9:g.69709792C>T	(Likely) benign	1 lab	1d40a1120a
7:151949068 KMT2C C>G	7	151949068	151949068	C	G	KMT2C	c.1577G>C	NM_170606.2	NP_733751.2:p.(Arg526Pro)	NC_000007.13:g.151949068C>G	(Likely) benign	1 lab	1d442f26c1
16:29825084 PRRT2 G>A	16	29825084	29825084	G	A	PRRT2	c.709G>A	NM_145239.2	NP_660282.2:p.(Gly237Arg)	NC_000016.9:g.29825084G>A	(Likely) benign	1 lab	1d45839a5c
14:23883019 MYH7 G>A	14	23883019	23883019	G	A	MYH7	c.5739C>T	NM_000257.3	NP_000248.2:p.(Ala1913=)	NC_000014.8:g.23883019G>A	(Likely) benign	1 lab	1d4736cb1c
1:169511878 F5 T>G	1	169511878	169511878	T	G	F5	c.2450A>C	NM_000130.4	NP_000121.2:p.(Asn817Thr)	NC_000001.10:g.169511878T>G	(Likely) benign	1 lab	1d47965b94
3:12627259 RAF1 T>C	3	12627259	12627259	T	C	RAF1	c.1457A>G	NM_002880.3	NP_002871.1:p.(Asp486Gly)	NC_000003.11:g.12627259T>C	(Likely) pathogenic	1 lab	1d491c6cfd
9:129377804 LMX1B C>G	9	129377804	129377804	C	G	LMX1B	c.282C>G	NM_002316.3	NP_002307.2:p.(Cys94Trp)	NC_000009.11:g.129377804C>G	(Likely) pathogenic	1 lab	1d492e9af1
2:179411665 TTN A>G	2	179411665	179411665	A	G	TTN	c.94523-33T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179411665A>G	(Likely) benign	1 lab	1d4b4a3f20
8:145024571 PLEC G>A	8	145024571	145024571	G	A	PLEC	c.194-11711C>T	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145024571G>A	VUS	1 lab	c3efad804d
4:1208228 CTBP1 G>A	4	1208228	1208228	G	A	CTBP1				NC_000004.11:g.1208228G>A	VUS	1 lab	1d52e6737c
17:41256903 BRCA1 G>A	17	41256903	41256903	G	A	BRCA1				NC_000017.10:g.41256903G>A	(Likely) benign	1 lab	1d5434df3b
10:61967919 ANK3 T>A	10	61967919	61967919	T	A	ANK3	c.1069A>T	NM_020987.3	NP_066267.2:p.(Asn357Tyr)	NC_000010.10:g.61967919T>A	VUS	1 lab	1d5923c042
2:207988816 KLF7 G>A	2	207988816	207988816	G	A	KLF7	c.415C>T	NM_003709.3	NP_003700.1:p.(Pro139Ser)	NC_000002.11:g.207988816G>A	VUS	1 lab	1d5ae3bb30
22:50502578 MLC1 TGCAGCAGGAGCACTA>T	22	50502578	50502600	TGCAGCAGGAGCACTA	T	MLC1	c.929_943del	NM_015166.3	NP_055981.1:p.(Leu310_Leu314del)	NC_000022.10:g.50502586_50502600del	VUS	1 lab	1d5af3dd9a
13:32972366 BRCA2 CTG>C	13	32972366	32972369	CTG	C	BRCA2	c.9718_9719del	NM_000059.4	NP_000050.3:p.(Val3240PhefsTer14)	NC_000013.10:g.32972368_32972369del	(Likely) pathogenic	1 lab	1d5b3a71a5
10:75857063 VCL G>A	10	75857063	75857063	G	A	VCL	c.1845G>A	NM_014000.2	NP_054706.1:p.(Ala615=)	NC_000010.10:g.75857063G>A	(Likely) benign	1 lab	1d5bc6b59e
13:32972761 BRCA2 A>G	13	32972761	32972761	A	G	BRCA2	c.10111A>G	NM_000059.4	NP_000050.3:p.(Thr3371Ala)	NC_000013.10:g.32972761A>G	(Likely) benign	1 lab	1d5bffe704
9:136302984 ADAMTS13 G>C	9	136302984	136302984	G	C	ADAMTS13	c.1551G>C	NM_139025.4	NP_620594.1:p.(Gly517=)	NC_000009.11:g.136302984G>C	(Likely) benign	1 lab	023c82026a
22:51011937 CPT1B A>G	22	51011937	51011937	A	G	CPT1B	c.1166+12T>C	NM_004377.3	NP_004368.1:p.?	NC_000022.10:g.51011937A>G	(Likely) benign	1 lab	1d60ef8b5f
11:108188115 ATM G>A	11	108188115	108188115	G	A	ATM	c.6214G>A	NM_000051.4	NP_000042.3:p.(Gly2072Arg)	NC_000011.9:g.108188115G>A	VUS	1 lab	1d61abe25b
16:55536687 MMP2 A>G	16	55536687	55536687	A	G	MMP2	c.1770-4A>G	NM_004530.4	NP_004521.1:p.?	NC_000016.9:g.55536687A>G	(Likely) benign	1 lab	1d62258553
1:228496030 OBSCN A>G	1	228496030	228496030	A	G	OBSCN	c.15556A>G	NM_001271223.2	NP_001258152.2:p.(Thr5186Ala)	NC_000001.10:g.228496030A>G	VUS	1 lab	1d649ae33a
6:123581789 TRDN G>T	6	123581789	123581789	G	T	TRDN	c.1805-6C>A	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123581789G>T	(Likely) benign	1 lab	1d6642f263
11:108204881 ATM C>T	11	108204881	108204881	C	T	ATM	c.8010+186C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108204881C>T	(Likely) benign	1 lab	1d676fd83e
3:38913064 SCN11A T>C	3	38913064	38913064	T	C	SCN11A	c.3631A>G	NM_014139.3	NP_054858.2:p.(Thr1211Ala)	NC_000003.11:g.38913064T>C	VUS	1 lab	1d68a32cc5
22:29886645 NEFH A>AAGCC	22	29886645	29886649	A	AAGCC	NEFH	c.3017_3020dup	NM_021076.3	NP_066554.2:p.(Pro1008AlafsTer56)	NC_000022.10:g.29886646_29886649dup	(Likely) pathogenic	1 lab	1d69a2c3ac
1:196646798 CFH G>A	1	196646798	196646798	G	A	CFH	c.619+1G>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196646798G>A	(Likely) pathogenic	1 lab	1d731c1da4
11:2161530 IGF2 C>T	11	2161530	2161530	C	T	IGF2	c.-6-4771G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2161530C>T	(Likely) benign	1 lab	c4d4cab6d9
X:44948987 KDM6A G>A	X	44948987	44948987	G	A	KDM6A				NC_000023.10:g.44948987G>A	(Likely) pathogenic	1 lab	1df4809529
6:1611060 FOXC1 G>T	6	1611060	1611060	G	T	FOXC1	c.380G>T	NM_001453.2	NP_001444.2:p.(Arg127Leu)	NC_000006.11:g.1611060G>T	(Likely) pathogenic	1 lab	1d762d5293
11:2168882 IGF2 C>T	11	2168882	2168882	C	T	IGF2	c.-93G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2168882C>T	VUS	1 lab	c57bedebbb
16:2152163 PKD1 T>A	16	2152163	2152163	T	A	PKD1	c.9296A>T	NM_001009944.2	NP_001009944.2:p.(Asp3099Val)	NC_000016.9:g.2152163T>A	VUS	1 lab	023e73f1f2
17:18075071 MYO15A G>A	17	18075071	18075071	G	A	MYO15A	c.10202G>A	NM_016239.3	NP_057323.3:p.(Arg3401His)	NC_000017.10:g.18075071G>A	VUS	1 lab	1d7c22db98
2:167133838 SCN9A G>T	2	167133838	167133838	G	T	SCN9A	c.2496C>A	NM_002977.3	NP_002968.1:p.(Phe832Leu)	NC_000002.11:g.167133838G>T	VUS	1 lab	1d7d05e674
20:42744896 JPH2 G>C	20	42744896	42744896	G	C	JPH2	c.1419C>G	NM_020433.5	NP_065166.2:p.(His473Gln)	NC_000020.10:g.42744896G>C	VUS	1 lab	1d82a34ca0
7:91724360 AKAP9 A>T	7	91724360	91724360	A	T	AKAP9	c.9602A>T	NM_005751.4	NP_005742.4:p.(Asp3201Val)	NC_000007.13:g.91724360A>T	(Likely) benign	1 lab	1d830d39db
5:90106258 ADGRV1 G>T	5	90106258	90106258	G	T	ADGRV1	c.15181G>T	NM_032119.3	NP_115495.3:p.(Gly5061Trp)	NC_000005.9:g.90106258G>T	VUS	1 lab	1d83ad9b7a
X:153595771 FLNA C>A	X	153595771	153595771	C	A	FLNA	c.862G>T	NM_001110556.2	NP_001104026.1:p.(Gly288Trp)	NC_000023.10:g.153595771C>A	(Likely) pathogenic	1 lab	1d880d27ec
1:215848587 USH2A T>C	1	215848587	215848587	T	C	USH2A	c.12666A>G	NM_206933.2	NP_996816.2:p.(Thr4222=)	NC_000001.10:g.215848587T>C	(Likely) benign	1 lab	1d88c6e088
6:32008452 TNXB G>A	6	32008452	32008452	G	A	TNXB				NC_000006.11:g.32008452G>A	(Likely) pathogenic	1 lab	1f4056bb88
14:64465765 SYNE2 AC>A	14	64465765	64465767	AC	A	SYNE2	c.3480+9del	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64465767del	(Likely) benign	1 lab	1d9095ed0f
22:19770520 TBX1 G>C	22	19770520	19770520	G	C	TBX1	c.1094G>C	NM_005992.1	NP_005983.1:p.(Arg365Thr)	NC_000022.10:g.19770520G>C	VUS	1 lab	c617b943d9
4:85654600 WDFY3 G>A	4	85654600	85654600	G	A	WDFY3				NC_000004.11:g.85654600G>A	(Likely) pathogenic	1 lab	1d92b730ed
9:35657777 RMRP G>A	9	35657777	35657777	G	A	RMRP	n.239C>T	NR_003051.3		NC_000009.11:g.35657777G>A	(Likely) pathogenic	1 lab	1d9415e9e5
13:115091673 CHAMP1 C>T	13	115091673	115091673	C	T	CHAMP1	c.2356C>T	NM_032436.3	NP_115812.1:p.(His786Tyr)	NC_000013.10:g.115091673C>T	VUS	1 lab	1d954510c2
2:167322421 SCN7A A>G	2	167322421	167322421	A	G	SCN7A	c.741T>C	NM_002976.4	NP_002967.2:p.(Phe247=)	NC_000002.11:g.167322421A>G	(Likely) benign	1 lab	1d95c741cb
14:64687205 SYNE2 C>T	14	64687205	64687205	C	T	SYNE2	c.19911C>T	NM_182914.2	NP_878918.2:p.(Asn6637=)	NC_000014.8:g.64687205C>T	(Likely) benign	1 lab	1d984dd815
7:32467535 PDE1C C>A	7	32467535	32467535	C	A	PDE1C	c.209G>T	NM_001322059.1	NP_001308988.1:p.(Arg70Leu)	NC_000007.13:g.32467535C>A	VUS	1 lab	c764744f5d
2:242618050 DTYMK A>G	2	242618050	242618050	A	G	DTYMK	c.345T>C	NM_012145.3	NP_036277.2:p.(Asp115=)	NC_000002.11:g.242618050A>G	(Likely) benign	1 lab	1d9f94d699
2:48026415 MSH6 ATT>A	2	48026415	48026419	ATT	A	MSH6	c.1296_1297del	NM_000179.3	NP_000170.1:p.(Phe432LeufsTer2)	NC_000002.11:g.48026418_48026419del	(Likely) pathogenic	1 lab	1da0f664d9
2:9658388 ADAM17 C>CA	2	9658388	9658410	C	CA	ADAM17	c.958-13dup	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658410dup	(Likely) benign	1 lab	024001cf40
1:182848458 DHX9 C>T	1	182848458	182848458	C	T	DHX9	c.2425C>T	NM_001357.5	NP_001348.2:p.(Arg809Cys)	NC_000001.10:g.182848458C>T	VUS	1 lab	1da66cef4d
3:38950600 SCN11A A>G	3	38950600	38950600	A	G	SCN11A	c.1187T>C	NM_014139.2	NP_054858.2:p.(Leu396Pro)	NC_000003.11:g.38950600A>G	(Likely) pathogenic	1 lab	1da76761dd
19:11558235 PRKCSH C>T	19	11558235	11558235	C	T	PRKCSH	c.850-19C>T	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11558235C>T	(Likely) benign	1 lab	02402a600e
7:149918008 ACTR3C T>C	7	149918008	149918008	T	C	ACTR3C	c.23+63834A>G	NM_001351028.1	NP_001337957.1:p.?	NC_000007.13:g.149918008T>C	VUS	1 lab	c804c1f2db
9:140710424 EHMT1 A>G	9	140710424	140710424	A	G	EHMT1	c.3284A>G	NM_024757.4	NP_079033.4:p.(Asn1095Ser)	NC_000009.11:g.140710424A>G	VUS	1 lab	1dab4960e7
1:197391101 CRB1 A>C	1	197391101	197391101	A	C	CRB1	c.2128+15A>C	NM_201253.2	NP_957705.1:p.?	NC_000001.10:g.197391101A>C	(Likely) benign	1 lab	1daccd1411
5:112174908 APC GT>G	5	112174908	112174909	GT	G	APC	c.3618del	NM_000038.6	NP_000029.2:p.(Ser1206ArgfsTer59)	NC_000005.9:g.112174909del	(Likely) pathogenic	1 lab	1db322b044
17:80041441 FASN G>A	17	80041441	80041441	G	A	FASN	c.5293C>T	NM_004104.4	NP_004095.4:p.(Arg1765Cys)	NC_000017.10:g.80041441G>A	VUS	1 lab	1db344031f
9:3248169 RFX3 C>A	9	3248169	3248169	C	A	RFX3	c.1831G>T	NM_134428.2	NP_602304.1:p.(Asp611Tyr)	NC_000009.11:g.3248169C>A	VUS	1 lab	1db4aa4d97
5:151202697 GLRA1 T>A	5	151202697	151202697	T	A	GLRA1	c.1060-149A>T	NM_001146040.2	NP_001139512.1:p.?	NC_000005.9:g.151202697T>A	(Likely) benign	1 lab	397bdc767f
17:10432198 MYH2 C>T	17	10432198	10432198	C	T	MYH2	c.3553G>A	NM_017534.5	NP_060004.3:p.(Glu1185Lys)	NC_000017.10:g.10432198C>T	VUS	1 lab	1db8243459
4:114286207 ANK2 T>C	4	114286207	114286207	T	C	ANK2	c.10901T>C	NM_001148.4	NP_001139.3:p.(Val3634Ala)	NC_000004.11:g.114286207T>C	VUS	1 lab	1db8ef0ad9
14:69006883 RAD51B CTT>C	14	69006883	69006908	CTT	C	RAD51B	c.1037-62473_1037-62472del	NM_001321809.1	NP_001308738.1:p.?	NC_000014.8:g.69006907_69006908del	(Likely) benign	1 lab	c883a5851a
14:31358807 COCH A>G	14	31358807	31358807	A	G	COCH				NC_000014.8:g.31358807A>G	VUS	1 lab	1dbb08c9b2
7:149475056 SSPOP G>A	7	149475056	149475056	G	A	SSPOP	n.763G>A	NR_163594.1		NC_000007.13:g.149475056G>A	(Likely) benign	1 lab	c88636be4c
2:179622581 TTN A>G	2	179622581	179622581	A	G	TTN	c.10366T>C	NM_001267550.2	NP_001254479.2:p.(Phe3456Leu)	NC_000002.11:g.179622581A>G	(Likely) benign	1 lab	1dbd96b64f
18:29104264 DSG2 T>C	18	29104264	29104264	T	C	DSG2	c.691-147T>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29104264T>C	(Likely) benign	1 lab	1dbdfb8af2
2:179410203 TTN AT>A	2	179410203	179410204	AT	A	TTN	c.95633del	NM_001267550.2	NP_001254479.2:p.(Asp31878ValfsTer6)	NC_000002.11:g.179410204del	(Likely) pathogenic	1 lab	024694578b
17:28887666 TBC1D29P A>T	17	28887666	28887666	A	T	TBC1D29P	n.259A>T	NR_172920.1		NC_000017.10:g.28887666A>T	VUS	1 lab	c8c6f6e098
15:85401725 ALPK3 C>T	15	85401725	85401725	C	T	ALPK3	c.4362C>T	NM_020778.4	NP_065829.3:p.(Ala1454=)	NC_000015.9:g.85401725C>T	(Likely) benign	1 lab	1dc6de968f
7:47921537 PKD1L1 G>A	7	47921537	47921537	G	A	PKD1L1	c.3412C>T	NM_138295.4	NP_612152.1:p.(Arg1138Ter)	NC_000007.13:g.47921537G>A	(Likely) pathogenic	1 lab	1dc7c7c4b2
12:64849738 TBK1 G>A	12	64849738	64849738	G	A	TBK1	c.87+1G>A	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64849738G>A	(Likely) pathogenic	1 lab	1dc7db4a26
16:21698770 OTOA C>T	16	21698770	21698770	C	T	OTOA				NC_000016.9:g.21698770C>T	(Likely) pathogenic	1 lab	1dcb53b35b
15:48760294 FBN1 G>C	15	48760294	48760294	G	C	FBN1	c.4588C>G	NM_000138.5	NP_000129.3:p.(Arg1530Gly)	NC_000015.9:g.48760294G>C	VUS	1 lab	1dce2a6522
2:128184770 PROC T>C	2	128184770	128184770	T	C	PROC	c.768T>C	NM_000312.3	NP_000303.1:p.(Asp256=)	NC_000002.11:g.128184770T>C	(Likely) benign	1 lab	1dd4b0d506
11:13517634 PTH T>C	11	13517634	13517634	T	C	PTH	c.46A>G	NM_001316352.1	NP_001303281.1:p.(Arg16Gly)	NC_000011.9:g.13517634T>C	VUS	1 lab	c905960a9c
12:6463603 SCNN1A C>G	12	6463603	6463603	C	G	SCNN1A	c.1360+1G>C	NM_001038.5	NP_001029.1:p.?	NC_000012.11:g.6463603C>G	(Likely) pathogenic	1 lab	1dd6ee2421
X:55024857 PFKFB1 T>C	X	55024857	55024857	T	C	PFKFB1	c.10A>G	NM_001271805.1	NP_001258734.1:p.(Lys4Glu)	NC_000023.10:g.55024857T>C	VUS	1 lab	c93116ed4f
4:155530877 FGG C>T	4	155530877	155530877	C	T	FGG	c.571G>A	NM_000509.5	NP_000500.2:p.(Gly191Arg)	NC_000004.11:g.155530877C>T	VUS	1 lab	1ddc3bc64b
1:103381185 COL11A1 AC>A	1	103381185	103381186	AC	A	COL11A1	c.3816+1del	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103381186del	(Likely) pathogenic	1 lab	1ddd2ad370
22:21351219 LZTR1 GC>G	22	21351219	21351220	GC	G	LZTR1	c.2371del	NM_006767.4	NP_006758.2:p.(His791ThrfsTer22)	NC_000022.10:g.21351220del	(Likely) pathogenic	1 lab	1ddf800a4b
7:100225112 TFR2 G>A	7	100225112	100225112	G	A	TFR2	c.1770C>T	NM_003227.3	NP_003218.2:p.(Asp590=)	NC_000007.13:g.100225112G>A	(Likely) benign	1 lab	1ddfd522e5
2:179404871 TTN G>A	2	179404871	179404871	G	A	TTN	c.98022C>T	NM_001267550.2	NP_001254479.2:p.(Arg32674=)	NC_000002.11:g.179404871G>A	(Likely) benign	1 lab	1de29fd32d
10:18828353 CACNB2 G>A	10	18828353	18828353	G	A	CACNB2	c.1518G>A	NM_000724.3	NP_000715.2:p.(Glu506=)	NC_000010.10:g.18828353G>A	(Likely) benign	1 lab	1de319609f
3:38888494 SCN11A G>C	3	38888494	38888494	G	C	SCN11A	c.5067C>G	NM_014139.2	NP_054858.2:p.(Phe1689Leu)	NC_000003.11:g.38888494G>C	VUS	1 lab	1de4dc0146
14:64491968 SYNE2 A>T	14	64491968	64491968	A	T	SYNE2	c.6081A>T	NM_182914.2	NP_878918.2:p.(Arg2027Ser)	NC_000014.8:g.64491968A>T	(Likely) benign	1 lab	1de86df898
2:48033483 MSH6 C>T	2	48033483	48033483	C	T	MSH6	c.3787C>T	NM_000179.2	NP_000170.1:p.(Arg1263Cys)	NC_000002.11:g.48033483C>T	VUS	1 lab	1dea715cf7
16:5132677 ALG1 A>G	16	5132677	5132677	A	G	ALG1	c.1187+3A>G	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5132677A>G	(Likely) pathogenic	1 lab	1deace962d
X:153199858 NAA10 T>C	X	153199858	153199858	T	C	NAA10	c.92A>G	NM_003491.3	NP_003482.1:p.(Tyr31Cys)	NC_000023.10:g.153199858T>C	VUS	1 lab	1deb03a0b8
16:56554092 BBS2 G>C	16	56554092	56554092	G	C	BBS2				NC_000016.9:g.56554092G>C	(Likely) benign	1 lab	1debea05ed
22:19435246 C22orf39 G>A	22	19435246	19435246	G	A	C22orf39	c.77C>T	NM_001166242.1	NP_001159714.1:p.(Thr26Ile)	NC_000022.10:g.19435246G>A	VUS	1 lab	c99e504819
20:32031264 SNTA1 C>CACCT	20	32031264	32031265	C	CACCT	SNTA1	c.162_163insAGGT	NM_003098.2	NP_003089.1:p.(Ala55ArgfsTer71)	NC_000020.10:g.32031264_32031265insACCT	VUS	1 lab	1deca468a0
17:48269219 COL1A1 C>A	17	48269219	48269219	C	A	COL1A1	c.2057G>T	NM_000088.3	NP_000079.2:p.(Gly686Val)	NC_000017.10:g.48269219C>A	(Likely) pathogenic	1 lab	1dee667dcd
2:179425319 TTN T>TG	2	179425319	179425321	T	TG	TTN	c.77835dup	NM_133378.4	NP_596869.4:p.(Lys25946GlnfsTer7)	NC_000002.11:g.179425321dup	(Likely) pathogenic	1 lab	1def60d0d6
17:41243831 BRCA1 A>T	17	41243831	41243831	A	T	BRCA1	c.3717T>A	NM_007294.4	NP_009225.1:p.(Ser1239=)	NC_000017.10:g.41243831A>T	(Likely) benign	1 lab	1df07f7edc
13:32937315 BRCA2 G>T	13	32937315	32937315	G	T	BRCA2	c.7977-1G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937315G>T	(Likely) pathogenic	1 lab	1df0a0c15e
X:102978864 GLRA4 A>C	X	102978864	102978864	A	C	GLRA4	n.789T>G	NR_164162.1		NC_000023.10:g.102978864A>C	VUS	1 lab	c9d8fc1e81
6:32009622 TNXB G>A	6	32009622	32009622	G	A	TNXB	c.12553C>T	NM_019105.6	NP_061978.6:p.(Arg4185Ter)	NC_000006.11:g.32009622G>A	(Likely) pathogenic	1 lab	1df5319ee7
1:215814065 USH2A G>A	1	215814065	215814065	G	A	USH2A	c.14803C>T	NM_206933.4	NP_996816.3:p.(Arg4935Ter)	NC_000001.10:g.215814065G>A	(Likely) pathogenic	1 lab	1df7307355
19:1219428 STK11 A>T	19	1219428	1219428	A	T	STK11	c.464+16A>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1219428A>T	(Likely) benign	1 lab	0256720c3a
X:10035461 WWC3 G>A	X	10035461	10035461	G	A	WWC3	c.151G>A	NM_015691.3	NP_056506.2:p.(Glu51Lys)	NC_000023.10:g.10035461G>A	(Likely) benign	1 lab	c9d9ff1a60
X:43817729 NDP A>G	X	43817729	43817729	A	G	NDP	c.163T>C	NM_000266.3	NP_000257.1:p.(Cys55Arg)	NC_000023.10:g.43817729A>G	(Likely) pathogenic	1 lab	1e000a809c
15:63356388 TPM1 A>C	15	63356388	63356388	A	C	TPM1	c.851+47A>C	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63356388A>C	(Likely) benign	1 lab	1e00a8d885
15:91544693 VPS33B C>G	15	91544693	91544693	C	G	VPS33B	c.1406-1G>C	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91544693C>G	(Likely) pathogenic	1 lab	1e00bf0504
16:83932997 MLYCD A>G	16	83932997	83932997	A	G	MLYCD	c.248A>G	NM_012213.2	NP_036345.2:p.(Gln83Arg)	NC_000016.9:g.83932997A>G	(Likely) benign	1 lab	1e0540796f
16:3830757 CREBBP A>G	16	3830757	3830757	A	G	CREBBP				NC_000016.9:g.3830757A>G	(Likely) pathogenic	1 lab	1e061ef50a
5:112173872 APC GGCAACTACCATCCA>G	5	112173872	112173891	GGCAACTACCATCCA	G	APC	c.2587_2600del	NM_000038.6	NP_000029.2:p.(Tyr863ArgfsTer44)	NC_000005.9:g.112173878_112173891del	(Likely) pathogenic	1 lab	1e08e7ecf4
2:179639047 TTN G>T	2	179639047	179639047	G	T	TTN	c.6944C>A	NM_001267550.2	NP_001254479.2:p.(Thr2315Lys)	NC_000002.11:g.179639047G>T	(Likely) benign	1 lab	1e0973023a
18:42530061 SETBP1 CG>C	18	42530061	42530062	CG	C	SETBP1				NC_000018.9:g.42530062del	(Likely) pathogenic	1 lab	1e0af00b75
17:73733620 ITGB4 C>A	17	73733620	73733620	C	A	ITGB4	c.2115C>A	NM_000213.5	NP_000204.3:p.(Asp705Glu)	NC_000017.10:g.73733620C>A	(Likely) benign	1 lab	025724d527
19:1496326 REEP6 G>A	19	1496326	1496326	G	A	REEP6	c.391G>A	NM_001329556.3	NP_001316485.1:p.(Gly131Arg)	NC_000019.9:g.1496326G>A	VUS	1 lab	1e0f8d35cb
22:42605914 TCF20 G>A	22	42605914	42605914	G	A	TCF20	c.5398C>T	NM_005650.3	NP_005641.1:p.(Arg1800Trp)	NC_000022.10:g.42605914G>A	VUS	1 lab	1e0fd7ca7c
X:37061288 FTHL18P C>A	X	37061288	37061288	C	A	FTHL18P	c.474G>T	NM_001271682.1	NP_001258611.1:p.(Gln158His)	NC_000023.10:g.37061288C>A	(Likely) benign	1 lab	c9ecd4f39a
6:35466196 TULP1 C>G	6	35466196	35466196	C	G	TULP1	c.1537G>C	NM_003322.6	NP_003313.3:p.(Ala513Pro)	NC_000006.11:g.35466196C>G	VUS	1 lab	1e18438763
16:23646780 PALB2 CAA>C	16	23646780	23646782	CAA	C	PALB2	c.1085_1086del	NM_024675.3	NP_078951.2:p.(Leu362ArgfsTer5)	NC_000016.9:g.23646781_23646782del	(Likely) pathogenic	1 lab	1e1b140714
7:101459329 CUX1 T>C	7	101459329	101459329	T	C	CUX1	c.19T>C	NM_001202543.1	NP_001189472.1:p.(Ser7Pro)	NC_000007.13:g.101459329T>C	(Likely) benign	1 lab	ca95ff37cc
X:48763745 SLC35A2 A>G	X	48763745	48763745	A	G	SLC35A2	c.350T>C	NM_001042498.2	NP_001035963.1:p.(Val117Ala)	NC_000023.10:g.48763745A>G	(Likely) benign	1 lab	1e1f5c146e
17:59761337 BRIP1 C>T	17	59761337	59761337	C	T	BRIP1	c.3070G>A	NM_032043.3	NP_114432.2:p.(Gly1024Arg)	NC_000017.10:g.59761337C>T	(Likely) benign	1 lab	1e1f97b796
1:10333084 KIF1B A>G	1	10333084	10333084	A	G	KIF1B	c.877A>G	NM_001365951.3	NP_001352880.1:p.(Ser293Gly)	NC_000001.10:g.10333084A>G	VUS	1 lab	1e22025895
10:89711899 PTEN C>T	10	89711899	89711899	C	T	PTEN	c.517C>T	NM_000314.4	NP_000305.3:p.(Arg173Cys)	NC_000010.10:g.89711899C>T	(Likely) pathogenic	1 lab	1e2274616c
10:72195844 NODAL T>G	10	72195844	72195844	T	G	NODAL	c.194-105A>C	NM_018055.4	NP_060525.3:p.?	NC_000010.10:g.72195844T>G	(Likely) benign	1 lab	1e25a9a369
8:61765588 CHD7 G>A	8	61765588	61765588	G	A	CHD7				NC_000008.10:g.61765588G>A	(Likely) pathogenic	1 lab	1e2603ce6a
X:153640510 TAFAZZIN T>A	X	153640510	153640510	T	A	TAFAZZIN	c.251T>A	NM_001303465.2	NP_001290394.1:p.(Val84Glu)	NC_000023.10:g.153640510T>A	(Likely) pathogenic	1 lab	1e27481e46
17:54926042 DGKE T>C	17	54926042	54926042	T	C	DGKE	c.889-15T>C	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54926042T>C	(Likely) benign	1 lab	1e2a6c475f
6:143929450 PHACTR2 G>A	6	143929450	143929450	G	A	PHACTR2	c.4G>A	NM_001100166.1	NP_001093636.1:p.(Asp2Asn)	NC_000006.11:g.143929450G>A	(Likely) benign	1 lab	cb67bd6a4c
8:145049423 PLEC T>C	8	145049423	145049423	T	C	PLEC	c.115A>G	NM_000445.3	NP_000436.2:p.(Ser39Gly)	NC_000008.10:g.145049423T>C	(Likely) benign	1 lab	cb6d26e28c
2:122288501 RNU4ATAC G>A	2	122288501	122288501	G	A	RNU4ATAC	n.46G>A	NR_023343.1		NC_000002.11:g.122288501G>A	(Likely) pathogenic	1 lab	025cf9484d
2:179442324 TTN C>G	2	179442324	179442324	C	G	TTN	c.68824+5G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442324C>G	VUS	1 lab	1e367d8b04
5:70888790 MCCC2 T>C	5	70888790	70888790	T	C	MCCC2	c.167T>C	NM_022132.4	NP_071415.1:p.(Leu56Pro)	NC_000005.9:g.70888790T>C	(Likely) pathogenic	1 lab	1e39b1c823
6:135754013 AHI1 T>C	6	135754013	135754013	T	C	AHI1	c.2266+152A>G	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135754013T>C	(Likely) benign	1 lab	025faf1d92
19:41928141 BCKDHA C>G	19	41928141	41928141	C	G	BCKDHA	c.719C>G	NM_000709.3	NP_000700.1:p.(Ala240Gly)	NC_000019.9:g.41928141C>G	VUS	1 lab	1e3e7a656f
5:179069426 SPATA31J1 C>T	5	179069426	179069426	C	T	SPATA31J1	c.748G>A	NM_001142306.1	NP_001135778.1:p.(Ala250Thr)	NC_000005.9:g.179069426C>T	(Likely) benign	1 lab	cb88b114b7
4:120108263 MYOZ2 G>A	4	120108263	120108263	G	A	MYOZ2	c.*908G>A	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120108263G>A	(Likely) benign	1 lab	1e44112ee0
X:10092346 WWC3 G>A	X	10092346	10092346	G	A	WWC3	c.1793G>A	NM_015691.3	NP_056506.2:p.(Ser598Asn)	NC_000023.10:g.10092346G>A	VUS	1 lab	cc17be2ef3
1:6505833 ESPN A>C	1	6505833	6505833	A	C	ESPN	c.1302A>C	NM_031475.3	NP_113663.2:p.(Pro434=)	NC_000001.10:g.6505833A>C	(Likely) benign	1 lab	1e4ebe18ad
1:7724958 CAMTA1 AG>A	1	7724958	7724964	AG	A	CAMTA1	c.2357del	NM_015215.3	NP_056030.1:p.(Gly786AlafsTer48)	NC_000001.10:g.7724964del	(Likely) pathogenic	1 lab	1e4edea6e8
5:112173659 APC A>T	5	112173659	112173659	A	T	APC	c.2368A>T	NM_000038.6	NP_000029.2:p.(Arg790Ter)	NC_000005.9:g.112173659A>T	(Likely) pathogenic	1 lab	1e4f9bd434
17:7788237 CHD3 C>A	17	7788237	7788237	C	A	CHD3	c.113C>A	NM_001005271.2	NP_001005271.2:p.(Ala38Glu)	NC_000017.10:g.7788237C>A	(Likely) benign	1 lab	cc45727b5f
11:61723385 BEST1 A>T	11	61723385	61723385	A	T	BEST1	c.443A>T	NM_004183.3	NP_004174.1:p.(Tyr148Phe)	NC_000011.9:g.61723385A>T	(Likely) benign	1 lab	1e544ce563
X:39916499 BCOR GC>G	X	39916499	39916500	GC	G	BCOR	c.4401del	NM_017745.5	NP_060215.4:p.(His1468MetfsTer66)	NC_000023.10:g.39916500del	(Likely) pathogenic	1 lab	1e5680b35d
12:116421017 MED13L GC>G	12	116421017	116421022	GC	G	MED13L	c.4859del	NM_015335.5	NP_056150.1:p.(Gly1620AlafsTer11)	NC_000012.11:g.116421022del	(Likely) pathogenic	1 lab	1e5b424c62
2:209113113 IDH1 G>A	2	209113113	209113113	G	A	IDH1	c.394C>T	NM_005896.3	NP_005887.2:p.(Arg132Cys)	NC_000002.11:g.209113113G>A	(Likely) pathogenic	1 lab	1e60105660
1:196799796 CFHR1 A>T	1	196799796	196799796	A	T	CFHR1	c.774A>T	NM_002113.3	NP_002104.2:p.(Glu258Asp)	NC_000001.10:g.196799796A>T	(Likely) benign	1 lab	1e61397cba
9:136321727 ADAMTS13 A>AT	9	136321727	136321728	A	AT	ADAMTS13				NC_000009.11:g.136321728dup	(Likely) pathogenic	1 lab	1e64651a7d
2:167056146 SCN9A T>G	2	167056146	167056146	T	G	SCN9A	c.4970A>C	NM_002977.3	NP_002968.1:p.(Tyr1657Ser)	NC_000002.11:g.167056146T>G	(Likely) pathogenic	1 lab	1e6bb6e45d
20:57429521 GNAS G>A	20	57429521	57429521	G	A	GNAS	c.1014G>A	NM_001077490.1	NP_001070958.1:p.(Pro338=)	NC_000020.10:g.57429521G>A	(Likely) benign	1 lab	cce257291b
12:6135067 VWF C>T	12	6135067	6135067	C	T	VWF	c.3108+5G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6135067C>T	(Likely) pathogenic	1 lab	1e6f6fa631
1:228475448 OBSCN G>A	1	228475448	228475448	G	A	OBSCN	c.10885G>A	NM_001271223.2	NP_001258152.2:p.(Gly3629Ser)	NC_000001.10:g.228475448G>A	(Likely) benign	1 lab	1e711e5a8a
8:11606775 GATA4 T>G	8	11606775	11606775	T	G	GATA4	c.783+181T>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11606775T>G	VUS	1 lab	1e72c443f4
19:5694505 LONP1 G>A	19	5694505	5694505	G	A	LONP1				NC_000019.9:g.5694505G>A	(Likely) pathogenic	1 lab	1e73763d42
21:46911230 COL18A1 T>C	21	46911230	46911230	T	C	COL18A1	c.2157+2T>C	NM_130445.2	NP_569712.2:p.?	NC_000021.8:g.46911230T>C	(Likely) pathogenic	1 lab	1e754a0ecd
17:56772535 RAD51C G>GA	17	56772535	56772540	G	GA	RAD51C	c.394dup	NM_058216.3	NP_478123.1:p.(Thr132AsnfsTer23)	NC_000017.10:g.56772540dup	(Likely) pathogenic	1 lab	1e75f332dd
22:20779699 SCARF2 C>A	22	20779699	20779699	C	A	SCARF2	c.2582G>T	NM_153334.7	NP_699165.3:p.(Gly861Val)	NC_000022.10:g.20779699C>A	VUS	1 lab	0260531170
5:112175678 APC A>T	5	112175678	112175678	A	T	APC	c.4387A>T	NM_000038.6	NP_000029.2:p.(Arg1463Ter)	NC_000005.9:g.112175678A>T	(Likely) pathogenic	1 lab	1e7d0492ba
X:153648497 TAFAZZIN TC>A	X	153648497	153648498	TC	A	TAFAZZIN	c.647-54_647-53delinsA	NM_000116.4	NP_000107.1:p.?	NC_000023.10:g.153648497_153648498delinsA	(Likely) benign	1 lab	1e7f71b2c7
2:73828439 MISSING G>A	2	73828439	73828439	G	A	MISSING				NC_000002.11:g.73828439G>A	(Likely) pathogenic	1 lab	1e87a7634b
1:76198785 ACADM G>A	1	76198785	76198785	G	A	ACADM	c.298+178G>A	NM_001127328.1	NP_001120800.1:p.?	NC_000001.10:g.76198785G>A	(Likely) benign	1 lab	1e8a4e617c
X:50376360 SHROOM4 A>G	X	50376360	50376360	A	G	SHROOM4	c.2713T>C	NM_020717.3	NP_065768.2:p.(Ser905Pro)	NC_000023.10:g.50376360A>G	(Likely) benign	1 lab	1e90b49db9
17:18057182 MYO15A C>G	17	18057182	18057182	C	G	MYO15A	c.8060C>G	NM_016239.3	NP_057323.3:p.(Ala2687Gly)	NC_000017.10:g.18057182C>G	VUS	1 lab	1e930ba91e
14:36988411 NKX2-1 G>T	14	36988411	36988411	G	T	NKX2-1	c.242C>A	NM_001079668.2	NP_001073136.1:p.(Ala81Glu)	NC_000014.8:g.36988411G>T	VUS	1 lab	1e93757aee
10:68040326 CTNNA3 T>G	10	68040326	68040326	T	G	CTNNA3	c.1786A>C	NM_013266.3	NP_037398.2:p.(Ser596Arg)	NC_000010.10:g.68040326T>G	(Likely) benign	1 lab	1e93987646
1:17084497 MST1L G>C	1	17084497	17084497	G	C	MST1L	c.1601C>G	NM_001271733.1	NP_001258662.1:p.(Pro534Arg)	NC_000001.10:g.17084497G>C	(Likely) benign	1 lab	cce2e905c8
22:21348562 LZTR1 C>T	22	21348562	21348562	C	T	LZTR1	c.1615+4C>T	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21348562C>T	(Likely) benign	1 lab	1e96866c5c
22:46447728 PRR34 A>C	22	46447728	46447728	A	C	PRR34	c.396T>G	NM_018280.2	NP_060750.1:p.(Asn132Lys)	NC_000022.10:g.46447728A>C	(Likely) benign	1 lab	ccfab8b48d
8:145741236 RECQL4 A>G	8	145741236	145741236	A	G	RECQL4	c.1170T>C	NM_004260.3	NP_004251.3:p.(Phe390=)	NC_000008.10:g.145741236A>G	VUS	1 lab	1e9c9103bd
7:94257603 SGCE G>A	7	94257603	94257603	G	A	SGCE	c.301C>T	NM_001099401.1	NP_001092871.1:p.(Leu101Phe)	NC_000007.13:g.94257603G>A	(Likely) pathogenic	1 lab	1e9d3101e6
7:91630146 AKAP9 A>AT	7	91630146	91630154	A	AT	AKAP9	c.931-8dup	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91630154dup	(Likely) benign	1 lab	1e9d40f081
1:228560024 OBSCN G>A	1	228560024	228560024	G	A	OBSCN	c.24416G>A	NM_001271223.2	NP_001258152.2:p.(Arg8139His)	NC_000001.10:g.228560024G>A	(Likely) benign	1 lab	1e9e4359f2
X:48650601 GATA1 C>T	X	48650601	48650601	C	T	GATA1	c.571C>T	NM_002049.3	NP_002040.1:p.(Arg191Cys)	NC_000023.10:g.48650601C>T	(Likely) benign	1 lab	0261e49801
8:55540547 RP1 C>T	8	55540547	55540547	C	T	RP1	c.4105C>T	NM_006269.1	NP_006260.1:p.(Gln1369Ter)	NC_000008.10:g.55540547C>T	(Likely) pathogenic	1 lab	1ea27714d8
20:57428967 GNAS A>G	20	57428967	57428967	A	G	GNAS	c.460A>G	NM_001077490.1	NP_001070958.1:p.(Thr154Ala)	NC_000020.10:g.57428967A>G	(Likely) benign	1 lab	cd1edb9f7d
16:89590460 SPG7 G>T	16	89590460	89590460	G	T	SPG7	c.423G>T	NM_003119.2	NP_003110.1:p.(Arg141=)	NC_000016.9:g.89590460G>T	(Likely) benign	1 lab	1ea53409b7
9:68433456 FRG1JP C>T	9	68433456	68433456	C	T	FRG1JP	n.757+9G>A	NR_033907.1		NC_000009.11:g.68433456C>T	(Likely) benign	1 lab	cd7b99b7ad
12:49420688 KMT2D G>A	12	49420688	49420688	G	A	KMT2D	c.15061C>T	NM_003482.4	NP_003473.3:p.(Arg5021Ter)	NC_000012.11:g.49420688G>A	(Likely) pathogenic	1 lab	1eab86dfea
14:76447065 TGFB3 CA>C	14	76447065	76447066	CA	C	TGFB3	c.171del	NM_003239.5	NP_003230.1:p.(Glu58SerfsTer4)	NC_000014.8:g.76447066del	(Likely) pathogenic	1 lab	1eacea81b1
4:39512283 UGDH G>A	4	39512283	39512283	G	A	UGDH	c.463C>T	NM_003359.3	NP_003350.1:p.(Gln155Ter)	NC_000004.11:g.39512283G>A	VUS	1 lab	1eaee40264
7:6045532 PMS2 T>G	7	6045532	6045532	T	G	PMS2	c.154A>C	NM_000535.5	NP_000526.1:p.(Thr52Pro)	NC_000007.13:g.6045532T>G	(Likely) benign	1 lab	1eb3e05642
3:25215908 RARB C>T	3	25215908	25215908	C	T	RARB	c.20C>T	NM_001290216.1	NP_001277145.1:p.(Ala7Val)	NC_000003.11:g.25215908C>T	VUS	1 lab	ce13f7591b
10:76789728 KAT6B C>T	10	76789728	76789728	C	T	KAT6B	c.5146C>T	NM_012330.3	NP_036462.2:p.(Gln1716Ter)	NC_000010.10:g.76789728C>T	(Likely) pathogenic	1 lab	1eb4e0f2db
16:29824523 PRRT2 C>CT	16	29824523	29824524	C	CT	PRRT2				NC_000016.9:g.29824523_29824524insT	(Likely) pathogenic	1 lab	1eb59d9b8b
4:187205357 F11 G>A	4	187205357	187205357	G	A	F11	c.1247G>A	NM_000128.3	NP_000119.1:p.(Cys416Tyr)	NC_000004.11:g.187205357G>A	(Likely) pathogenic	1 lab	1eb66ec1a8
7:101925213 CUX1 G>T	7	101925213	101925213	G	T	CUX1	c.1854+1G>T	NM_001202544.1	NP_001189473.1:p.?	NC_000007.13:g.101925213G>T	VUS	1 lab	ce65f99734
14:105176520 INF2 G>T	14	105176520	105176520	G	T	INF2	c.2234G>T	NM_022489.3	NP_071934.3:p.(Cys745Phe)	NC_000014.8:g.105176520G>T	(Likely) benign	1 lab	1ebd5c4e2e
12:15679120 PTPRO C>A	12	15679120	15679120	C	A	PTPRO				NC_000012.11:g.15679120C>A	(Likely) benign	1 lab	a6ee96354f
3:37067410 MLH1 G>A	3	37067410	37067410	G	A	MLH1	c.1321G>A	NM_000249.3	NP_000240.1:p.(Ala441Thr)	NC_000003.11:g.37067410G>A	(Likely) benign	1 lab	1ec17f1e92
8:11612604 GATA4 G>A	8	11612604	11612604	G	A	GATA4	c.959G>A	NM_002052.3	NP_002043.2:p.(Arg320Gln)	NC_000008.10:g.11612604G>A	(Likely) pathogenic	1 lab	1ec3ee7680
4:155505979 FGA T>G	4	155505979	155505979	T	G	FGA	c.1898A>C	NM_000508.3	NP_000499.1:p.(Asp633Ala)	NC_000004.11:g.155505979T>G	VUS	1 lab	ce97a3ca41
20:33575036 MYH7B A>G	20	33575036	33575036	A	G	MYH7B	c.1219A>G	NM_020884.4	NP_065935.3:p.(Met407Val)	NC_000020.10:g.33575036A>G	VUS	1 lab	1ec8356910
1:10363354 KIF1B G>A	1	10363354	10363354	G	A	KIF1B	c.2111G>A	NM_183416.4	NP_904325.2:p.(Ser704Asn)	NC_000001.10:g.10363354G>A	(Likely) benign	1 lab	026440cbab
2:113300001 POLR1B T>TTCCGGCGTGTACCGAGAGACTGGCG	2	113300001	113300056	T	TTCCGGCGTGTACCGAGAGACTGGCG	POLR1B	c.-40_-16dup	NM_001137604.1	NP_001131076.1:p.?	NC_000002.11:g.113300032_113300056dup	VUS	1 lab	ceb928fb31
11:47373016 MYBPC3 G>A	11	47373016	47373016	G	A	MYBPC3	c.66C>T	NM_000256.3	NP_000247.2:p.(Ala22=)	NC_000011.9:g.47373016G>A	(Likely) benign	1 lab	1ecbb9b5eb
11:47372879 MYBPC3 A>G	11	47372879	47372879	A	G	MYBPC3	c.203T>C	NM_000256.3	NP_000247.2:p.(Val68Ala)	NC_000011.9:g.47372879A>G	(Likely) benign	1 lab	1ece67a1ef
19:38993269 RYR1 G>A	19	38993269	38993269	G	A	RYR1	c.7737G>A	NM_000540.2	NP_000531.2:p.(Val2579=)	NC_000019.9:g.38993269G>A	(Likely) benign	1 lab	1ed19ebb1a
4:123664114 BBS12 T>G	4	123664114	123664114	T	G	BBS12	c.1067T>G	NM_001178007.1	NP_001171478.1:p.(Ile356Arg)	NC_000004.11:g.123664114T>G	VUS	1 lab	1ed1aa2af5
3:25109491 RARB A>ACACC	3	25109491	25109492	A	ACACC	RARB	c.-280+7824_-280+7825insCACC	NM_001290216.2	NP_001277145.1:p.?	NC_000003.11:g.25109491_25109492insCACC	(Likely) benign	1 lab	ced7d7e3d2
1:17086699 MST1L A>C	1	17086699	17086699	A	C	MST1L	c.544T>G	NM_001271733.1	NP_001258662.1:p.(Cys182Gly)	NC_000001.10:g.17086699A>C	VUS	1 lab	cee7885ddc
7:128492891 FLNC TCAC>T	7	128492891	128492895	TCAC	T	FLNC	c.6016_6018del	NM_001458.4	NP_001449.3:p.(Thr2006del)	NC_000007.13:g.128492893_128492895del	VUS	1 lab	1ed34f41c0
4:83602010 SCD5 G>A	4	83602010	83602010	G	A	SCD5	c.419C>T	NM_001037582.3	NP_001032671.2:p.(Thr140Met)	NC_000004.11:g.83602010G>A	VUS	1 lab	1ed5531329
13:113773092 F7 G>A	13	113773092	113773092	G	A	F7	c.1171G>A	NM_000131.4	NP_000122.1:p.(Gly391Ser)	NC_000013.10:g.113773092G>A	(Likely) pathogenic	1 lab	1ed947b040
18:19321706 MIB1 C>T	18	19321706	19321706	C	T	MIB1	c.162C>T	NM_020774.2	NP_065825.1:p.(Asn54=)	NC_000018.9:g.19321706C>T	(Likely) benign	1 lab	1ee3f6948f
16:9858015 GRIN2A T>C	16	9858015	9858015	T	C	GRIN2A	c.3386A>G	NM_000833.4	NP_000824.1:p.(His1129Arg)	NC_000016.9:g.9858015T>C	VUS	1 lab	1ee421a96b
8:63976812 TTPA C>T	8	63976812	63976812	C	T	TTPA	c.616G>A	NM_000370.3	NP_000361.1:p.(Val206Ile)	NC_000008.10:g.63976812C>T	VUS	1 lab	1ee5f67ca4
11:2170443 IGF2 C>T	11	2170443	2170443	C	T	IGF2	c.-336G>A	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170443C>T	(Likely) benign	1 lab	cf8a64f153
20:45355519 SLC2A10 C>T	20	45355519	45355519	C	T	SLC2A10	c.1305C>T	NM_030777.3	NP_110404.1:p.(Leu435=)	NC_000020.10:g.45355519C>T	(Likely) benign	1 lab	1ee9e548d9
10:97386488 ALDH18A1 C>A	10	97386488	97386488	C	A	ALDH18A1	c.1124G>T	NM_002860.3	NP_002851.2:p.(Arg375Met)	NC_000010.10:g.97386488C>A	VUS	1 lab	1eeb9b7f8a
17:29592309 NF1 C>G	17	29592309	29592309	C	G	NF1	c.4787C>G	NM_001042492.3	NP_001035957.1:p.(Ala1596Gly)	NC_000017.10:g.29592309C>G	VUS	1 lab	1eee468eaa
1:6520139 ESPN A>G	1	6520139	6520139	A	G	ESPN				NC_000001.10:g.6520139A>G	VUS	1 lab	1ef277dda2
7:98547307 TRRAP G>A	7	98547307	98547307	G	A	TRRAP	c.4903G>A	NM_003496.3	NP_003487.1:p.(Asp1635Asn)	NC_000007.13:g.98547307G>A	VUS	1 lab	1ef5fbae34
9:14756451 FREM1 A>AG	9	14756451	14756454	A	AG	FREM1	c.5335-8dup	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14756454dup	(Likely) benign	1 lab	0267751ae6
13:20763637 GJB2 G>A	13	20763637	20763637	G	A	GJB2	c.84C>T	NM_004004.5	NP_003995.2:p.(Leu28=)	NC_000013.10:g.20763637G>A	(Likely) benign	1 lab	1efd446de1
13:103018968 FGF14 CA>C	13	103018968	103018992	CA	C	FGF14	c.208+34852del	NM_001321937.1	NP_001308866.1:p.?	NC_000013.10:g.103018992del	(Likely) benign	1 lab	d09252f833
13:110959464 COL4A1 C>A	13	110959464	110959464	C	A	COL4A1	c.-90G>T	NM_001845.5	NP_001836.3:p.?	NC_000013.10:g.110959464C>A	(Likely) benign	1 lab	1efe6d9797
21:45759000 CFAP410 C>G	21	45759000	45759000	C	G	CFAP410	c.77+1G>C	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45759000C>G	(Likely) pathogenic	1 lab	1f03c5055d
11:2909512 SLC67A1-AS GC>G	11	2909512	2909513	GC	G	SLC67A1-AS	n.991del	NR_169304.1		NC_000011.9:g.2909513del	VUS	1 lab	d107a0a21c
19:13339572 CACNA1A G>A	19	13339572	13339572	G	A	CACNA1A	c.5569C>T	NM_001127221.1	NP_001120693.1:p.(Arg1857Ter)	NC_000019.9:g.13339572G>A	(Likely) pathogenic	1 lab	1f04430e8c
1:160098841 ATP1A2 G>A	1	160098841	160098841	G	A	ATP1A2	c.1288G>A	NM_000702.3	NP_000693.1:p.(Val430Ile)	NC_000001.10:g.160098841G>A	VUS	1 lab	1f0491cffa
17:7980013 ALOX12B G>A	17	7980013	7980013	G	A	ALOX12B	c.1324C>T	NM_001139.2	NP_001130.1:p.(Arg442Trp)	NC_000017.10:g.7980013G>A	(Likely) pathogenic	1 lab	1f0ba30460
12:5154241 KCNA5 C>T	12	5154241	5154241	C	T	KCNA5	c.928C>T	NM_002234.4	NP_002225.2:p.(Pro310Ser)	NC_000012.11:g.5154241C>T	(Likely) benign	1 lab	026bed7c0f
13:32900390 BRCA2 A>C	13	32900390	32900390	A	C	BRCA2	c.487A>C	NM_000059.3	NP_000050.2:p.(Ser163Arg)	NC_000013.10:g.32900390A>C	VUS	1 lab	1f11dc06a8
12:6230345 VWF A>G	12	6230345	6230345	A	G	VWF	c.215T>C	NM_000552.3	NP_000543.2:p.(Ile72Thr)	NC_000012.11:g.6230345A>G	VUS	1 lab	1f1353e1ce
5:112173348 APC A>G	5	112173348	112173348	A	G	APC	c.2057A>G	NM_000038.6	NP_000029.2:p.(Asn686Ser)	NC_000005.9:g.112173348A>G	VUS	1 lab	1f1429be43
17:59560632 TBX4 C>T	17	59560632	59560632	C	T	TBX4	c.1393C>T	NM_018488.3	NP_060958.2:p.(Pro465Ser)	NC_000017.10:g.59560632C>T	(Likely) benign	1 lab	1f17002bca
11:118371710 KMT2A G>T	11	118371710	118371710	G	T	KMT2A	c.6167G>T	NM_001197104.2	NP_001184033.1:p.(Arg2056Met)	NC_000011.9:g.118371710G>T	(Likely) pathogenic	1 lab	1f1747f4ad
X:149767127 MTM1 C>T	X	149767127	149767127	C	T	MTM1	c.208C>T	NM_000252.3	NP_000243.1:p.(Leu70Phe)	NC_000023.10:g.149767127C>T	(Likely) pathogenic	1 lab	1f199cd6d0
12:9220823 A2M G>GA	12	9220823	9220835	G	GA	A2M	c.4367-4dup	NM_000014.6	NP_000005.3:p.?	NC_000012.11:g.9220835dup	(Likely) benign	1 lab	1f1a3f4044
20:62130469 EEF1A2 C>T	20	62130469	62130469	C	T	EEF1A2				NC_000020.10:g.62130469C>T	(Likely) benign	1 lab	1f1b52b9b3
19:50810419 MYH14 G>T	19	50810419	50810419	G	T	MYH14				NC_000019.9:g.50810419G>T	(Likely) benign	1 lab	1f1eb083e0
3:10444034 ATP2B2 T>C	3	10444034	10444034	T	C	ATP2B2	c.398-2A>G	NM_001001331.3	NP_001001331.1:p.?	NC_000003.11:g.10444034T>C	(Likely) pathogenic	1 lab	1f1eba1aeb
10:70156615 RUFY2 G>A	10	70156615	70156615	G	A	RUFY2	c.425C>T	NM_017987.4	NP_060457.4:p.(Ala142Val)	NC_000010.10:g.70156615G>A	VUS	1 lab	1f20468725
19:7267575 INSR G>A	19	7267575	7267575	G	A	INSR	c.433C>T	NM_000208.2	NP_000199.2:p.(Arg145Cys)	NC_000019.9:g.7267575G>A	(Likely) pathogenic	1 lab	1f2315f00b
7:81588629 CACNA2D1 G>C	7	81588629	81588629	G	C	CACNA2D1	c.3121C>G	NM_000722.3	NP_000713.2:p.(Arg1041Gly)	NC_000007.13:g.81588629G>C	VUS	1 lab	1f251d368e
14:31348103 COCH T>C	14	31348103	31348103	T	C	COCH	c.326T>C	NM_004086.2	NP_004077.1:p.(Ile109Thr)	NC_000014.8:g.31348103T>C	(Likely) pathogenic	1 lab	1f2530733a
13:60686225 DIAPH3 T>C	13	60686225	60686225	T	C	DIAPH3	c.309A>G	NM_001042517.1	NP_001035982.1:p.(Ser103=)	NC_000013.10:g.60686225T>C	VUS	1 lab	1f2aee1a27
6:54002927 MLIP C>A	6	54002927	54002927	C	A	MLIP	c.2060C>A	NM_001281747.2	NP_001268676.1:p.(Thr687Asn)	NC_000006.11:g.54002927C>A	VUS	1 lab	1f311c0c09
3:114069804 ZBTB20 C>T	3	114069804	114069804	C	T	ZBTB20	c.1121G>A	NM_001164342.2	NP_001157814.1:p.(Ser374Asn)	NC_000003.11:g.114069804C>T	(Likely) benign	1 lab	1f3337f1ec
1:115256457 NRAS T>C	1	115256457	115256457	T	C	NRAS				NC_000001.10:g.115256457T>C	(Likely) benign	1 lab	1f357db884
12:112940039 PTPN11 C>G	12	112940039	112940039	C	G	PTPN11	c.1691C>G	NM_002834.5	NP_002825.3:p.(Thr564Ser)	NC_000012.11:g.112940039C>G	VUS	1 lab	1f36376183
5:37165761 CPLANE1 TC>T	5	37165761	37165762	TC	T	CPLANE1				NC_000005.9:g.37165762del	(Likely) pathogenic	1 lab	1f37bbbef6
19:50905312 POLD1 C>T	19	50905312	50905312	C	T	POLD1	c.520C>T	NM_002691.4	NP_002682.2:p.(Arg174Trp)	NC_000019.9:g.50905312C>T	VUS	1 lab	1f39ab5489
X:53277961 IQSEC2 G>A	X	53277961	53277961	G	A	IQSEC2	c.2401C>T	NM_001111125.2	NP_001104595.1:p.(Gln801Ter)	NC_000023.10:g.53277961G>A	(Likely) pathogenic	1 lab	1f3d45f35d
9:117849138 TNC C>T	9	117849138	117849138	C	T	TNC	c.872G>A	NM_002160.3	NP_002151.2:p.(Arg291His)	NC_000009.11:g.117849138C>T	(Likely) benign	1 lab	1f3e8d404a
17:45369577 ITGB3 G>A	17	45369577	45369577	G	A	ITGB3	c.1333G>A	NM_000212.2	NP_000203.2:p.(Val445Met)	NC_000017.10:g.45369577G>A	VUS	1 lab	1f3ffd4437
8:27321539 CHRNA2 C>T	8	27321539	27321539	C	T	CHRNA2	c.450-29G>A	NM_000742.4	NP_000733.2:p.?	NC_000008.10:g.27321539C>T	(Likely) benign	1 lab	026dc05494
7:149490508 SSPOP C>T	7	149490508	149490508	C	T	SSPOP	n.6280C>T	NR_163594.1		NC_000007.13:g.149490508C>T	VUS	1 lab	d1f85a49a3
11:6644134 DCHS1 T>G	11	6644134	6644134	T	G	DCHS1				NC_000011.9:g.6644134T>G	VUS	1 lab	1f439f46ca
13:32971093 BRCA2 A>G	13	32971093	32971093	A	G	BRCA2	c.9560A>G	NM_000059.4	NP_000050.3:p.(Asn3187Ser)	NC_000013.10:g.32971093A>G	(Likely) benign	1 lab	1f46e496a3
1:167404671 CD247 G>A	1	167404671	167404671	G	A	CD247	c.301-3C>T	NM_000734.4	NP_000725.1:p.?	NC_000001.10:g.167404671G>A	(Likely) pathogenic	1 lab	026e6caf02
1:161334023 SDHC G>C	1	161334023	161334023	G	C	SDHC	c.*1693G>C	NM_001035511.1	NP_001030588.1:p.?	NC_000001.10:g.161334023G>C	(Likely) benign	1 lab	d268768cce
12:122693112 DIABLO G>C	12	122693112	122693112	G	C	DIABLO	c.536C>G	NM_019887.5	NP_063940.1:p.(Ala179Gly)	NC_000012.11:g.122693112G>C	VUS	1 lab	1f4ea60744
20:44523509 CTSA C>A	20	44523509	44523509	C	A	CTSA	c.971C>A	NM_000308.3	NP_000299.2:p.(Thr324Asn)	NC_000020.10:g.44523509C>A	VUS	1 lab	1f4f558987
X:37061167 FTHL18P A>C	X	37061167	37061167	A	C	FTHL18P	c.595T>G	NM_001271682.1	NP_001258611.1:p.(Ser199Ala)	NC_000023.10:g.37061167A>C	(Likely) benign	1 lab	d2cdd6ae8f
7:101918611 CUX1 G>A	7	101918611	101918611	G	A	CUX1	c.1496G>A	NM_001202544.1	NP_001189473.1:p.(Arg499Gln)	NC_000007.13:g.101918611G>A	(Likely) benign	1 lab	d2fc340fba
7:5568982 ACTB G>A	7	5568982	5568982	G	A	ACTB	c.173C>T	NM_001101.5	NP_001092.1:p.(Ala58Val)	NC_000007.13:g.5568982G>A	(Likely) pathogenic	1 lab	1f54078f50
10:18787377 CACNB2 G>A	10	18787377	18787377	G	A	CACNB2	c.427G>A	NM_201596.3	NP_963890.2:p.(Glu143Lys)	NC_000010.10:g.18787377G>A	VUS	1 lab	1f54d7fd86
13:32911088 BRCA2 G>A	13	32911088	32911088	G	A	BRCA2	c.2596G>A	NM_000059.3	NP_000050.2:p.(Glu866Lys)	NC_000013.10:g.32911088G>A	(Likely) benign	1 lab	1f55871b1a
10:73434906 CDH23 G>A	10	73434906	73434906	G	A	CDH23	c.1487G>A	NM_022124.5	NP_071407.4:p.(Ser496Asn)	NC_000010.10:g.73434906G>A	(Likely) benign	1 lab	1f57d1bdc9
12:5021673 KCNA1 G>C	12	5021673	5021673	G	C	KCNA1	c.1129G>C	NM_000217.2	NP_000208.2:p.(Asp377His)	NC_000012.11:g.5021673G>C	(Likely) pathogenic	1 lab	1f589b5e17
X:37061416 FTHL18P C>T	X	37061416	37061416	C	T	FTHL18P	c.346G>A	NM_001271682.1	NP_001258611.1:p.(Gly116Ser)	NC_000023.10:g.37061416C>T	(Likely) benign	1 lab	d329d84eab
17:56780672 RAD51C C>T	17	56780672	56780672	C	T	RAD51C	c.687C>T	NM_058216.3	NP_478123.1:p.(Phe229=)	NC_000017.10:g.56780672C>T	(Likely) benign	1 lab	1f5cad72f4
10:89692920 PTEN T>C	10	89692920	89692920	T	C	PTEN	c.404T>C	NM_000314.4	NP_000305.3:p.(Ile135Thr)	NC_000010.10:g.89692920T>C	(Likely) pathogenic	1 lab	1f5fd249e6
9:117014919 COL27A1 G>A	9	117014919	117014919	G	A	COL27A1	c.3080G>A	NM_032888.4	NP_116277.2:p.(Gly1027Glu)	NC_000009.11:g.117014919G>A	VUS	1 lab	1f602ee971
2:113299971 POLR1B A>G	2	113299971	113299971	A	G	POLR1B	c.-101A>G	NM_001137604.1	NP_001131076.1:p.?	NC_000002.11:g.113299971A>G	VUS	1 lab	d401512006
X:107815054 COL4A5 TC>T	X	107815054	107815057	TC	T	COL4A5	c.455del	NM_033380.2	NP_203699.1:p.(Pro152GlnfsTer3)	NC_000023.10:g.107815057del	(Likely) pathogenic	1 lab	1f671e3e25
7:140449225 BRAF G>C	7	140449225	140449225	G	C	BRAF	c.1861-7C>G	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140449225G>C	(Likely) benign	1 lab	1f67e94d5e
6:110064874 FIG4 T>C	6	110064874	110064874	T	C	FIG4	c.1040-4T>C	NM_014845.5	NP_055660.1:p.?	NC_000006.11:g.110064874T>C	(Likely) benign	1 lab	027118dd4e
6:65532717 EYS T>C	6	65532717	65532717	T	C	EYS	c.2993-2A>G	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65532717T>C	(Likely) pathogenic	1 lab	1f6bb09938
8:145138854 GPAA1 G>C	8	145138854	145138854	G	C	GPAA1	c.527G>C	NM_003801.4	NP_003792.1:p.(Trp176Ser)	NC_000008.10:g.145138854G>C	(Likely) pathogenic	1 lab	1f6cd8e17f
3:38798189 SCN10A G>A	3	38798189	38798189	G	A	SCN10A	c.1266C>T	NM_006514.3	NP_006505.3:p.(Leu422=)	NC_000003.11:g.38798189G>A	(Likely) benign	1 lab	1f6e96d52a
5:14291299 TRIO T>G	5	14291299	14291299	T	G	TRIO	c.1015T>G	NM_007118.4	NP_009049.2:p.(Cys339Gly)	NC_000005.9:g.14291299T>G	(Likely) benign	1 lab	1f6f232520
X:13738082 TRAPPC2 T>C	X	13738082	13738082	T	C	TRAPPC2	c.103A>G	NM_001128835.2	NP_001122307.2:p.(Met35Val)	NC_000023.10:g.13738082T>C	VUS	1 lab	1f6f82a35d
9:136220748 SURF1 C>T	9	136220748	136220748	C	T	SURF1	c.371G>A	NM_003172.3	NP_003163.1:p.(Gly124Glu)	NC_000009.11:g.136220748C>T	VUS	1 lab	1f6f9eea09
6:144508343 STX11 G>C	6	144508343	144508343	G	C	STX11	c.579G>C	NM_003764.3	NP_003755.2:p.(Leu193Phe)	NC_000006.11:g.144508343G>C	(Likely) benign	1 lab	0274b21e34
X:103040646 PLP1 T>C	X	103040646	103040646	T	C	PLP1	c.140T>C	NM_000533.4	NP_000524.3:p.(Ile47Thr)	NC_000023.10:g.103040646T>C	VUS	1 lab	1f7633024e
5:161494992 GABRG2 A>G	5	161494992	161494992	A	G	GABRG2				NC_000005.9:g.161494992A>G	(Likely) benign	1 lab	0276ff2569
18:19751907 GATA6 AG>A	18	19751907	19751908	AG	A	GATA6	c.803del	NM_005257.6	NP_005248.2:p.(Ser268ThrfsTer26)	NC_000018.9:g.19751908del	(Likely) pathogenic	1 lab	1f7cf21473
6:24873188 RIPOR2 C>A	6	24873188	24873188	C	A	RIPOR2	c.258-1G>T	NM_014722.3	NP_055537.2:p.?	NC_000006.11:g.24873188C>A	VUS	1 lab	1f7d4444d9
5:37049341 NIPBL C>T	5	37049341	37049341	C	T	NIPBL	c.6892C>T	NM_133433.4	NP_597677.2:p.(Arg2298Cys)	NC_000005.9:g.37049341C>T	(Likely) pathogenic	1 lab	1f7d69d769
1:228547889 OBSCN G>A	1	228547889	228547889	G	A	OBSCN	c.21533-2388G>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228547889G>A	(Likely) benign	1 lab	1f7f34e2c3
6:7579803 DSP CTG>C	6	7579803	7579807	CTG	C	DSP	c.3383_3384del	NM_004415.3	NP_004406.2:p.(Val1128GlyfsTer5)	NC_000006.11:g.7579806_7579807del	(Likely) pathogenic	1 lab	1f8168638f
10:89711893 PTEN C>G	10	89711893	89711893	C	G	PTEN	c.511C>G	NM_000314.4	NP_000305.3:p.(Gln171Glu)	NC_000010.10:g.89711893C>G	(Likely) pathogenic	1 lab	1f82b33552
2:179644853 TTN T>A	2	179644853	179644853	T	A	TTN	c.3603A>T	NM_001267550.2	NP_001254479.2:p.(Lys1201Asn)	NC_000002.11:g.179644853T>A	VUS	1 lab	1f82b465e7
15:38631840 SPRED1 T>C	15	38631840	38631840	T	C	SPRED1	c.424-98T>C	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38631840T>C	(Likely) benign	1 lab	1f87546b6e
2:47637265 MSH2 C>T	2	47637265	47637265	C	T	MSH2	c.399C>T	NM_000251.2	NP_000242.1:p.(Asp133=)	NC_000002.11:g.47637265C>T	(Likely) benign	1 lab	1f885e2c88
19:35530044 SCN1B G>A	19	35530044	35530044	G	A	SCN1B	c.472G>A	NM_001037.5	NP_001028.1:p.(Val158Met)	NC_000019.9:g.35530044G>A	VUS	1 lab	027bf32d62
11:19213962 CSRP3 C>T	11	19213962	19213962	C	T	CSRP3	c.34G>A	NM_003476.4	NP_003467.1:p.(Ala12Thr)	NC_000011.9:g.19213962C>T	VUS	1 lab	1f894a45a3
12:49426748 KMT2D G>A	12	49426748	49426748	G	A	KMT2D	c.11740C>T	NM_003482.4	NP_003473.3:p.(Gln3914Ter)	NC_000012.11:g.49426748G>A	(Likely) pathogenic	1 lab	1f8bcff41e
X:101095849 NXF5 A>G	X	101095849	101095849	A	G	NXF5	n.859T>C	NR_028089.1		NC_000023.10:g.101095849A>G	(Likely) benign	1 lab	d45569d1ae
18:11753842 GNAL G>T	18	11753842	11753842	G	T	GNAL	c.522G>T	NM_182978.3	NP_892023.1:p.(Met174Ile)	NC_000018.9:g.11753842G>T	VUS	1 lab	1f91c3478c
3:38739987 SCN10A A>G	3	38739987	38739987	A	G	SCN10A	c.4724T>C	NM_006514.3	NP_006505.3:p.(Ile1575Thr)	NC_000003.11:g.38739987A>G	(Likely) pathogenic	1 lab	1f97107e9d
13:32889663 BRCA2 G>T	13	32889663	32889663	G	T	BRCA2	c.-181G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889663G>T	(Likely) benign	1 lab	1f9826ba38
7:91622245 AKAP9 A>C	7	91622245	91622245	A	C	AKAP9	c.452A>C	NM_005751.5	NP_005742.4:p.(Gln151Pro)	NC_000007.13:g.91622245A>C	VUS	1 lab	07478d910b
15:31369123 TRPM1 A>G	15	31369123	31369123	A	G	TRPM1	c.2T>C	NM_002420.5	NP_002411.3:p.(Met1?)	NC_000015.9:g.31369123A>G	(Likely) benign	1 lab	1f992398fd
4:155507519 FGA A>G	4	155507519	155507519	A	G	FGA	c.1062T>C	NM_000508.3	NP_000499.1:p.(Pro354=)	NC_000004.11:g.155507519A>G	(Likely) benign	1 lab	0277f7de71
1:152278203 FLG C>T	1	152278203	152278203	C	T	FLG	c.9159G>A	NM_002016.1	NP_002007.1:p.(Gly3053=)	NC_000001.10:g.152278203C>T	(Likely) benign	1 lab	1f9bc32a2f
17:72764377 SLC9A3R1 T>C	17	72764377	72764377	T	C	SLC9A3R1				NC_000017.10:g.72764377T>C	VUS	1 lab	1f9bd4da40
16:89350858 ANKRD11 CTT>C	16	89350858	89350860	CTT	C	ANKRD11	c.2090_2091del	NM_013275.5	NP_037407.4:p.(Glu697GlyfsTer4)	NC_000016.9:g.89350859_89350860del	(Likely) pathogenic	1 lab	1f9bebd7a4
20:42744397 JPH2 T>G	20	42744397	42744397	T	G	JPH2	c.1918A>C	NM_020433.4	NP_065166.2:p.(Thr640Pro)	NC_000020.10:g.42744397T>G	(Likely) benign	1 lab	1f9c59e7dc
1:145415616 HJV G>C	1	145415616	145415616	G	C	HJV	c.435G>C	NM_213653.4	NP_998818.1:p.(Pro145=)	NC_000001.10:g.145415616G>C	(Likely) benign	1 lab	1fa07f0894
2:85039580 DNAH6 C>T	2	85039580	85039580	C	T	DNAH6	c.11855C>T	NM_001370.1	NP_001361.1:p.(Thr3952Ile)	NC_000002.11:g.85039580C>T	VUS	1 lab	1fac1c4954
X:129149207 BCORL1 A>G	X	129149207	129149207	A	G	BCORL1	c.2459A>G	NM_021946.4	NP_068765.3:p.(Asn820Ser)	NC_000023.10:g.129149207A>G	(Likely) benign	1 lab	1fac490d99
2:215632304 BARD1 G>A	2	215632304	215632304	G	A	BARD1	c.1470C>T	NM_000465.4	NP_000456.2:p.(Thr490=)	NC_000002.11:g.215632304G>A	(Likely) benign	1 lab	1fadddb179
19:42794394 CIC C>T	19	42794394	42794394	C	T	CIC	c.4201C>T	NM_001386298.1	NP_001373227.1:p.(Arg1401Trp)	NC_000019.9:g.42794394C>T	VUS	1 lab	1fb0337fe3
4:158141810 GRIA2 GTGT>G	4	158141810	158141813	GTGT	G	GRIA2	c.-384_-382del	NM_000826.3	NP_000817.2:p.?	NC_000004.11:g.158141811_158141813del	VUS	1 lab	d54c15d7db
2:48030743 MSH6 A>T	2	48030743	48030743	A	T	MSH6	c.3357A>T	NM_000179.2	NP_000170.1:p.(Glu1119Asp)	NC_000002.11:g.48030743A>T	(Likely) benign	1 lab	1fb2a34978
7:149526071 SSPOP G>A	7	149526071	149526071	G	A	SSPOP	n.15235G>A	NR_163594.1		NC_000007.13:g.149526071G>A	VUS	1 lab	d54e65f857
7:73474301 ELN A>T	7	73474301	73474301	A	T	ELN	c.1500A>T	NM_000501.3	NP_000492.2:p.(Gly500=)	NC_000007.13:g.73474301A>T	(Likely) benign	1 lab	1fb70ec9d9
6:79707136 PHIP T>C	6	79707136	79707136	T	C	PHIP	c.2196A>G	NM_017934.6	NP_060404.4:p.(Val732=)	NC_000006.11:g.79707136T>C	(Likely) benign	1 lab	1fb7c591b7
2:198363504 HSPD1 A>G	2	198363504	198363504	A	G	HSPD1	c.69T>C	NM_002156.4	NP_002147.2:p.(Thr23=)	NC_000002.11:g.198363504A>G	(Likely) benign	1 lab	1fb95ab444
9:131087449 COQ4 C>T	9	131087449	131087449	C	T	COQ4	c.230C>T	NM_016035.5	NP_057119.3:p.(Thr77Ile)	NC_000009.11:g.131087449C>T	(Likely) pathogenic	1 lab	1fba761c42
5:176894607 MISSING C>T	5	176894607	176894607	C	T	MISSING				NC_000005.9:g.176894607C>T	VUS	1 lab	1fbb71ed56
2:179482114 TTN C>T	2	179482114	179482114	C	T	TTN	c.47698G>A	NM_001267550.2	NP_001254479.2:p.(Glu15900Lys)	NC_000002.11:g.179482114C>T	VUS	1 lab	1fbc212a0c
5:112174872 APC C>A	5	112174872	112174872	C	A	APC	c.3581C>A	NM_000038.6	NP_000029.2:p.(Ser1194Ter)	NC_000005.9:g.112174872C>A	(Likely) pathogenic	1 lab	1fbd652581
17:7909735 GUCY2D G>A	17	7909735	7909735	G	A	GUCY2D	c.1081G>A	NM_000180.3	NP_000171.1:p.(Val361Met)	NC_000017.10:g.7909735G>A	(Likely) benign	1 lab	1fbf850fb3
8:11616571 GATA4 A>G	8	11616571	11616571	A	G	GATA4	c.*587A>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616571A>G	(Likely) benign	1 lab	1fbfad21e5
3:123471382 MYLK G>A	3	123471382	123471382	G	A	MYLK	c.169C>T	NM_053025.3	NP_444253.3:p.(Arg57Trp)	NC_000003.11:g.123471382G>A	VUS	1 lab	1fc282fc12
14:24729687 TGM1 C>T	14	24729687	24729687	C	T	TGM1				NC_000014.8:g.24729687C>T	(Likely) benign	1 lab	a90351e40d
16:31500325 SLC5A2 G>A	16	31500325	31500325	G	A	SLC5A2	c.1405G>A	NM_003041.3	NP_003032.1:p.(Ala469Thr)	NC_000016.9:g.31500325G>A	(Likely) pathogenic	1 lab	1fc2a4bf1a
1:197390166 CRB1 C>G	1	197390166	197390166	C	G	CRB1	c.1208C>G	NM_201253.2	NP_957705.1:p.(Ser403Ter)	NC_000001.10:g.197390166C>G	(Likely) pathogenic	1 lab	1fc91a13ec
7:151478508 PRKAG2 G>C	7	151478508	151478508	G	C	PRKAG2	c.196C>G	NM_016203.3	NP_057287.2:p.(Pro66Ala)	NC_000007.13:g.151478508G>C	(Likely) benign	1 lab	1fc91c1d18
7:2568513 LFNG GA>G	7	2568513	2568516	GA	G	LFNG	c.1082del	NM_001040168.1	NP_001035258.1:p.(Asn361ThrfsTer7)	NC_000007.13:g.2568516del	VUS	1 lab	d58d9907cd
10:73491875 CDH23 G>A	10	73491875	73491875	G	A	CDH23	c.3847G>A	NM_022124.6	NP_071407.4:p.(Val1283Met)	NC_000010.10:g.73491875G>A	VUS	1 lab	1fce514e4c
7:94294970 PEG10 G>A	7	94294970	94294970	G	A	PEG10	c.*1124G>A	NM_001040152.1	NP_001035242.1:p.?	NC_000007.13:g.94294970G>A	VUS	1 lab	d5efa747a2
22:20780253 SCARF2 G>T	22	20780253	20780253	G	T	SCARF2	c.2025C>A	NM_153334.7	NP_699165.3:p.(Gly675=)	NC_000022.10:g.20780253G>T	(Likely) benign	1 lab	02820b693d
2:179435004 TTN A>T	2	179435004	179435004	A	T	TTN				NC_000002.11:g.179435004A>T	(Likely) pathogenic	1 lab	1fdcbc005c
2:48030613 MSH6 G>A	2	48030613	48030613	G	A	MSH6	c.3227G>A	NM_000179.2	NP_000170.1:p.(Arg1076His)	NC_000002.11:g.48030613G>A	VUS	1 lab	1fddc74bf4
9:91991870 SEMA4D C>T	9	91991870	91991870	C	T	SEMA4D	c.1760G>A	NM_001142287.1	NP_001135759.1:p.(Trp587Ter)	NC_000009.11:g.91991870C>T	VUS	1 lab	d5f7bb5eb2
12:6134987 VWF C>A	12	6134987	6134987	C	A	VWF	c.3108+85G>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6134987C>A	(Likely) benign	1 lab	1fe0388bef
20:49510117 ADNP A>C	20	49510117	49510117	A	C	ADNP	c.1134T>G	NM_015339.2	NP_056154.1:p.(Tyr378Ter)	NC_000020.10:g.49510117A>C	(Likely) pathogenic	1 lab	1fe32492bc
2:179561015 TTN C>T	2	179561015	179561015	C	T	TTN	c.30803-19G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179561015C>T	(Likely) benign	1 lab	1fe4cf312b
2:73679896 MISSING CTG>C	2	73679896	73679898	CTG	C	MISSING				NC_000002.11:g.73679897_73679898del	(Likely) pathogenic	1 lab	1fe758835a
12:92818667 CLLU1 AT>A	12	92818667	92818670	AT	A	CLLU1	n.306-484del	NR_027932.1		NC_000012.11:g.92818670del	(Likely) benign	1 lab	d5fa6916fe
6:119252607 MCM9 C>G	6	119252607	119252607	C	G	MCM9	c.282G>C	NM_017696.3	NP_060166.2:p.(Gln94His)	NC_000006.11:g.119252607C>G	VUS	1 lab	1fea8be980
3:11067528 SLC6A1 G>A	3	11067528	11067528	G	A	SLC6A1	c.919G>A	NM_001348250.1	NP_001335179.1:p.(Gly307Arg)	NC_000003.11:g.11067528G>A	(Likely) pathogenic	1 lab	1fec1c3520
17:48245026 SGCA C>T	17	48245026	48245026	C	T	SGCA	c.241C>T	NM_000023.3	NP_000014.1:p.(Arg81Cys)	NC_000017.10:g.48245026C>T	VUS	1 lab	1fee3658a8
12:65633922 LEMD3 T>TA	12	65633922	65633923	T	TA	LEMD3	c.2031dup	NM_014319.5	NP_055134.2:p.(Arg678ThrfsTer4)	NC_000012.11:g.65633923dup	(Likely) pathogenic	1 lab	1fee6d3be9
20:45354882 SLC2A10 C>T	20	45354882	45354882	C	T	SLC2A10	c.1207C>T	NM_030777.3	NP_110404.1:p.(Arg403Trp)	NC_000020.10:g.45354882C>T	(Likely) benign	1 lab	1fee82290e
14:74726334 VSX2 G>A	14	74726334	74726334	G	A	VSX2	c.609G>A	NM_182894.2	NP_878314.1:p.(Trp203Ter)	NC_000014.8:g.74726334G>A	(Likely) pathogenic	1 lab	1ff08852fe
17:46022054 PNPO C>T	17	46022054	46022054	C	T	PNPO	c.336C>T	NM_018129.4	NP_060599.1:p.(Asn112=)	NC_000017.10:g.46022054C>T	VUS	1 lab	02826678bb
6:157528367 ARID1B T>G	6	157528367	157528367	T	G	ARID1B				NC_000006.11:g.157528367T>G	(Likely) pathogenic	1 lab	1ff6171339
3:48636589 UQCRC1 C>T	3	48636589	48636589	C	T	UQCRC1	c.1415G>A	NM_003365.3	NP_003356.2:p.(Arg472His)	NC_000003.11:g.48636589C>T	VUS	1 lab	1ff7eb989b
11:119508825 NECTIN1 G>A	11	119508825	119508825	G	A	NECTIN1	c.1360C>T	NM_203285.1	NP_976030.1:p.(Arg454Ter)	NC_000011.9:g.119508825G>A	(Likely) pathogenic	1 lab	d6de6b29e8
X:101092524 NXF5 T>C	X	101092524	101092524	T	C	NXF5	n.1382A>G	NR_028089.1		NC_000023.10:g.101092524T>C	(Likely) benign	1 lab	d6f7975f64
3:185252741 LIPH C>A	3	185252741	185252741	C	A	LIPH	c.229G>T	NM_139248.2	NP_640341.1:p.(Gly77Ter)	NC_000003.11:g.185252741C>A	(Likely) pathogenic	1 lab	1ffc4571f6
2:215609851 BARD1 G>C	2	215609851	215609851	G	C	BARD1	c.1843C>G	NM_000465.4	NP_000456.2:p.(Gln615Glu)	NC_000002.11:g.215609851G>C	VUS	1 lab	1fff288b42
6:157528688 ARID1B T>G	6	157528688	157528688	T	G	ARID1B	c.6413T>G	NM_020732.3	NP_065783.3:p.(Leu2138Arg)	NC_000006.11:g.157528688T>G	VUS	1 lab	1fff65cb64
9:124088805 GSN G>A	9	124088805	124088805	G	A	GSN	c.1585G>A	NM_000177.4	NP_000168.1:p.(Gly529Ser)	NC_000009.11:g.124088805G>A	VUS	1 lab	1fffdd8765
3:38739966 SCN10A C>T	3	38739966	38739966	C	T	SCN10A	c.4745G>A	NM_006514.3	NP_006505.3:p.(Arg1582His)	NC_000003.11:g.38739966C>T	(Likely) pathogenic	1 lab	2001022f31
7:35293184 TBX20 G>A	7	35293184	35293184	G	A	TBX20	c.48C>T	NM_001077653.2	NP_001071121.1:p.(Asn16=)	NC_000007.13:g.35293184G>A	(Likely) benign	1 lab	20051a3882
3:11059027 SLC6A1 C>T	3	11059027	11059027	C	T	SLC6A1	c.130C>T	NM_003042.3	NP_003033.3:p.(Arg44Trp)	NC_000003.11:g.11059027C>T	(Likely) pathogenic	1 lab	2006a01812
X:153640233 TAFAZZIN C>T	X	153640233	153640233	C	T	TAFAZZIN	c.53C>T	NM_000116.4	NP_000107.1:p.(Thr18Ile)	NC_000023.10:g.153640233C>T	VUS	1 lab	200843a994
7:5567944 ACTB C>A	7	5567944	5567944	C	A	ACTB	c.770G>T	NM_001101.3	NP_001092.1:p.(Cys257Phe)	NC_000007.13:g.5567944C>A	VUS	1 lab	2009f59b9e
8:61767082 CHD7 G>A	8	61767082	61767082	G	A	CHD7	c.6936G>A	NM_017780.3	NP_060250.2:p.(Lys2312=)	NC_000008.10:g.61767082G>A	(Likely) pathogenic	1 lab	200e029518
1:109823097 PSRC1 G>A	1	109823097	109823097	G	A	PSRC1	c.919C>T	NM_001032291.2	NP_001027462.1:p.(Arg307Ter)	NC_000001.10:g.109823097G>A	VUS	1 lab	2012134bc1
4:651299 PDE6B A>T	4	651299	651299	A	T	PDE6B	c.1401+16A>T	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.651299A>T	(Likely) benign	1 lab	20145ed911
17:29689340 NF1 G>T	17	29689340	29689340	G	T	NF1	c.8377+1619G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29689340G>T	(Likely) benign	1 lab	2014952845
3:15563268 COLQ C>G	3	15563268	15563268	C	G	COLQ				NC_000003.11:g.15563268C>G	(Likely) benign	1 lab	2016d6b5e7
6:30886666 VARS2 G>A	6	30886666	30886666	G	A	VARS2	c.1138G>A	NM_001167734.1	NP_001161206.1:p.(Val380Ile)	NC_000006.11:g.30886666G>A	(Likely) pathogenic	1 lab	2017d3bdaa
20:57429765 GNAS C>T	20	57429765	57429765	C	T	GNAS	c.1258C>T	NM_001077490.1	NP_001070958.1:p.(Pro420Ser)	NC_000020.10:g.57429765C>T	VUS	1 lab	d808d26d5e
3:52440925 BAP1 T>C	3	52440925	52440925	T	C	BAP1	c.581-2A>G	NM_004656.3	NP_004647.1:p.?	NC_000003.11:g.52440925T>C	(Likely) pathogenic	1 lab	201ad20188
6:32008873 CYP21A2 C>T	6	32008873	32008873	C	T	CYP21A2	c.1450C>T	NM_000500.7	NP_000491.4:p.(Arg484Trp)	NC_000006.11:g.32008873C>T	(Likely) pathogenic	1 lab	201d199ffb
8:61654895 CHD7 C>T	8	61654895	61654895	C	T	CHD7	c.904C>T	NM_017780.3	NP_060250.2:p.(Pro302Ser)	NC_000008.10:g.61654895C>T	VUS	1 lab	20208bc491
3:178936092 PIK3CA A>G	3	178936092	178936092	A	G	PIK3CA	c.1634A>G	NM_006218.4	NP_006209.2:p.(Glu545Gly)	NC_000003.11:g.178936092A>G	(Likely) pathogenic	1 lab	20250c402b
19:18186625 IL12RB1 G>A	19	18186625	18186625	G	A	IL12RB1	c.754C>T	NM_001290024.1	NP_001276953.1:p.(Arg252Ter)	NC_000019.9:g.18186625G>A	(Likely) pathogenic	1 lab	202515be43
14:36986962 NKX2-1 G>A	14	36986962	36986962	G	A	NKX2-1				NC_000014.8:g.36986962G>A	VUS	1 lab	20251fab9d
19:7599335 PNPLA6 A>C	19	7599335	7599335	A	C	PNPLA6	c.-196+3A>C	NM_001166112.1	NP_001159584.1:p.?	NC_000019.9:g.7599335A>C	(Likely) benign	1 lab	d824a787c6
16:67694206 ACD T>C	16	67694206	67694206	T	C	ACD	c.176A>G	NM_001082486.1	NP_001075955.1:p.(Glu59Gly)	NC_000016.9:g.67694206T>C	VUS	1 lab	d82c3e6ad6
2:200245179 SATB2 G>A	2	200245179	200245179	G	A	SATB2	c.505C>T	NM_001172509.2	NP_001165980.1:p.(Gln169Ter)	NC_000002.11:g.200245179G>A	(Likely) pathogenic	1 lab	202bdc377b
3:196044967 DYNLT2B C>T	3	196044967	196044967	C	T	DYNLT2B	c.57G>A	NM_152773.5	NP_689986.2:p.(Glu19=)	NC_000003.11:g.196044967C>T	(Likely) benign	1 lab	0283d36321
19:38937374 RYR1 C>T	19	38937374	38937374	C	T	RYR1	c.766C>T	NM_000540.2	NP_000531.2:p.(Arg256Cys)	NC_000019.9:g.38937374C>T	VUS	1 lab	2032e5c1c2
2:179594011 TTN T>C	2	179594011	179594011	T	C	TTN	c.18868+4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179594011T>C	(Likely) benign	1 lab	203500106b
13:32910738 BRCA2 G>A	13	32910738	32910738	G	A	BRCA2	c.2246G>A	NM_000059.3	NP_000050.2:p.(Ser749Asn)	NC_000013.10:g.32910738G>A	(Likely) benign	1 lab	20379a2595
5:90006849 ADGRV1 G>A	5	90006849	90006849	G	A	ADGRV1	c.8876G>A	NM_032119.4	NP_115495.3:p.(Arg2959Gln)	NC_000005.9:g.90006849G>A	(Likely) benign	1 lab	0286402596
16:87425683 FBXO31 C>T	16	87425683	87425683	C	T	FBXO31	c.-289+6G>A	NM_001282683.1	NP_001269612.1:p.?	NC_000016.9:g.87425683C>T	(Likely) benign	1 lab	d830648f82
2:166021023 SCN3A A>G	2	166021023	166021023	A	G	SCN3A	c.481T>C	NM_006922.3	NP_008853.3:p.(Phe161Leu)	NC_000002.11:g.166021023A>G	VUS	1 lab	203e8f2b6b
1:145075649 PDE4DIP C>T	1	145075649	145075649	C	T	PDE4DIP	c.214G>A	NM_001350521.1	NP_001337450.1:p.(Ala72Thr)	NC_000001.10:g.145075649C>T	(Likely) benign	1 lab	d8a7be756b
17:4801966 CHRNE G>A	17	4801966	4801966	G	A	CHRNE	c.*65C>T	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4801966G>A	(Likely) benign	1 lab	209af5288e
22:35782802 HMOX1 A>C	22	35782802	35782802	A	C	HMOX1	c.269A>C	NM_002133.3	NP_002124.1:p.(Glu90Ala)	NC_000022.10:g.35782802A>C	(Likely) benign	1 lab	0286babf61
12:22016004 ABCC9 G>A	12	22016004	22016004	G	A	ABCC9	c.2238-16C>T	NM_005691.3	NP_005682.2:p.?	NC_000012.11:g.22016004G>A	(Likely) benign	1 lab	2043cb060f
4:15538697 CC2D2A C>T	4	15538697	15538697	C	T	CC2D2A	c.1762C>T	NM_001080522.2	NP_001073991.2:p.(Gln588Ter)	NC_000004.11:g.15538697C>T	(Likely) pathogenic	1 lab	2046f0a1a6
3:4726822 ITPR1 C>G	3	4726822	4726822	C	G	ITPR1	c.3562C>G	NM_002222.5	NP_002213.5:p.(Gln1188Glu)	NC_000003.11:g.4726822C>G	(Likely) pathogenic	1 lab	20471bf4ae
13:32972575 BRCA2 G>A	13	32972575	32972575	G	A	BRCA2	c.9925G>A	NM_000059.4	NP_000050.3:p.(Glu3309Lys)	NC_000013.10:g.32972575G>A	(Likely) benign	1 lab	204881ddb1
14:23898266 MYH7 C>G	14	23898266	23898266	C	G	MYH7	c.1305G>C	NM_000257.3	NP_000248.2:p.(Met435Ile)	NC_000014.8:g.23898266C>G	VUS	1 lab	204902d742
1:215848802 USH2A C>G	1	215848802	215848802	C	G	USH2A	c.12451G>C	NM_206933.2	NP_996816.2:p.(Asp4151His)	NC_000001.10:g.215848802C>G	VUS	1 lab	204a30b36b
8:61734482 CHD7 G>A	8	61734482	61734482	G	A	CHD7	c.2831G>A	NM_017780.3	NP_060250.2:p.(Arg944His)	NC_000008.10:g.61734482G>A	(Likely) benign	1 lab	204b31ae4c
2:47635695 MSH2 G>C	2	47635695	47635695	G	C	MSH2	c.366+1G>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47635695G>C	(Likely) pathogenic	1 lab	204b551614
19:5893221 NDUFA11 C>G	19	5893221	5893221	C	G	NDUFA11	c.394G>C	NM_001193375.1	NP_001180304.1:p.(Ala132Pro)	NC_000019.9:g.5893221C>G	(Likely) benign	1 lab	d8ca6bf6ea
9:123945609 RAB14 T>A	9	123945609	123945609	T	A	RAB14	c.419A>T	NM_016322.4	NP_057406.2:p.(Lys140Ile)	NC_000009.11:g.123945609T>A	VUS	1 lab	204ccd7028
3:169482814 TERC G>A	3	169482814	169482814	G	A	TERC	n.35C>T	NR_001566.1		NC_000003.11:g.169482814G>A	(Likely) pathogenic	1 lab	307efdb201
X:39923017 BCOR G>A	X	39923017	39923017	G	A	BCOR	c.3691C>T	NM_001123385.1	NP_001116857.1:p.(Arg1231Trp)	NC_000023.10:g.39923017G>A	VUS	1 lab	204e1ed683
9:131356572 SPTAN1 G>A	9	131356572	131356572	G	A	SPTAN1	c.3334G>A	NM_001130438.3	NP_001123910.1:p.(Ala1112Thr)	NC_000009.11:g.131356572G>A	VUS	1 lab	204f15e062
X:151284080 MAGEA5P G>A	X	151284080	151284080	G	A	MAGEA5P	c.-65-3C>T	NM_021049.4	NP_066387.1:p.?	NC_000023.10:g.151284080G>A	VUS	1 lab	dc6c06cf8e
11:47361779 MYBPC3 C>A	11	47361779	47361779	C	A	MYBPC3	c.1928-438G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361779C>A	(Likely) benign	1 lab	08d67fbe2b
4:187201675 F11 T>C	4	187201675	187201675	T	C	F11	c.1076T>C	NM_000128.3	NP_000119.1:p.(Ile359Thr)	NC_000004.11:g.187201675T>C	(Likely) pathogenic	1 lab	205291d756
8:86377699 CA2 G>A	8	86377699	86377699	G	A	CA2	c.232+1G>A	NM_000067.2	NP_000058.1:p.?	NC_000008.10:g.86377699G>A	(Likely) pathogenic	1 lab	20539c8c16
5:112170822 APC C>T	5	112170822	112170822	C	T	APC	c.1918C>T	NM_000038.6	NP_000029.2:p.(Arg640Trp)	NC_000005.9:g.112170822C>T	VUS	1 lab	205b571105
15:85788429 GOLGA6L3P C>T	15	85788429	85788429	C	T	GOLGA6L3P	n.1329C>T	NR_171665.1		NC_000015.9:g.85788429C>T	(Likely) benign	1 lab	d9543c3a90
2:166905429 SCN1A T>C	2	166905429	166905429	T	C	SCN1A	c.995A>G	NM_001165963.3	NP_001159435.1:p.(Asp332Gly)	NC_000002.11:g.166905429T>C	(Likely) pathogenic	1 lab	0286e7ba0f
19:18979676 GDF1 G>C	19	18979676	18979676	G	C	GDF1	c.849C>G	NM_001492.5	NP_001483.3:p.(Arg283=)	NC_000019.9:g.18979676G>C	(Likely) benign	1 lab	2062560845
2:179600641 TTN G>A	2	179600641	179600641	G	A	TTN	c.14532C>T	NM_001267550.2	NP_001254479.2:p.(Ser4844=)	NC_000002.11:g.179600641G>A	(Likely) benign	1 lab	2064296e62
3:55504170 WNT5A C>T	3	55504170	55504170	C	T	WNT5A	c.1093G>A	NM_003392.4	NP_003383.2:p.(Val365Ile)	NC_000003.11:g.55504170C>T	VUS	1 lab	20642e708f
11:103018629 DYNC2H1 T>G	11	103018629	103018629	T	G	DYNC2H1	c.2818+13T>G	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103018629T>G	(Likely) benign	1 lab	20671d01ec
6:133836546 EYA4 T>G	6	133836546	133836546	T	G	EYA4	c.1589T>G	NM_004100.4	NP_004091.3:p.(Leu530Arg)	NC_000006.11:g.133836546T>G	VUS	1 lab	206af5cfd2
1:46727058 RAD54L G>A	1	46727058	46727058	G	A	RAD54L	c.891+1G>A	NM_001142548.1	NP_001136020.1:p.?	NC_000001.10:g.46727058G>A	VUS	1 lab	206b99a4c2
5:136974697 KLHL3 G>A	5	136974697	136974697	G	A	KLHL3	c.1164C>T	NM_017415.3	NP_059111.2:p.(Gly388=)	NC_000005.9:g.136974697G>A	(Likely) benign	1 lab	02877fe1d7
10:96064358 PLCE1 G>T	10	96064358	96064358	G	T	PLCE1	c.5578G>T	NM_016341.3	NP_057425.3:p.(Glu1860Ter)	NC_000010.10:g.96064358G>T	(Likely) pathogenic	1 lab	2072c127f6
17:59760644 BRIP1 G>A	17	59760644	59760644	G	A	BRIP1	c.*13C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59760644G>A	(Likely) benign	1 lab	2075429bfb
17:72588601 CD300LD-AS1 G>A	17	72588601	72588601	G	A	CD300LD-AS1	c.416G>A	NM_001302809.1	NP_001289738.1:p.(Gly139Glu)	NC_000017.10:g.72588601G>A	VUS	1 lab	d996a117e7
11:73785624 C2CD3 C>T	11	73785624	73785624	C	T	C2CD3	c.4625G>A	NM_001286577.1	NP_001273506.1:p.(Arg1542Gln)	NC_000011.9:g.73785624C>T	(Likely) benign	1 lab	2075f7412e
16:23652389 PALB2 G>C	16	23652389	23652389	G	C	PALB2	c.48+42C>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23652389G>C	(Likely) benign	1 lab	2077b5fc8a
20:57429424 GNAS G>A	20	57429424	57429424	G	A	GNAS	c.917G>A	NM_001077490.1	NP_001070958.1:p.(Arg306Gln)	NC_000020.10:g.57429424G>A	VUS	1 lab	da0d706262
1:202568425 SYT2 T>G	1	202568425	202568425	T	G	SYT2	c.974A>C	NM_177402.4	NP_796376.2:p.(Lys325Thr)	NC_000001.10:g.202568425T>G	VUS	1 lab	2079448a12
1:209605636 MIR205HG TAGCAGCAGCAGCAGC>T	1	209605636	209605676	TAGCAGCAGCAGCAGC	T	MIR205HG	c.277_291del	NM_001104548.1	NP_001098018.1:p.(Ala93_Ala97del)	NC_000001.10:g.209605662_209605676del	VUS	1 lab	da589e00e2
7:149500373 SSPOP C>T	7	149500373	149500373	C	T	SSPOP	n.8195C>T	NR_163594.1		NC_000007.13:g.149500373C>T	VUS	1 lab	da7370b6b5
12:9004853 A2ML1 G>C	12	9004853	9004853	G	C	A2ML1	c.2511G>C	NM_144670.4	NP_653271.2:p.(Trp837Cys)	NC_000012.11:g.9004853G>C	(Likely) benign	1 lab	207d8e5060
2:179536974 TTN TTTC>T	2	179536974	179536980	TTTC	T	TTN	c.34948_34950del	NM_001267550.2	NP_001254479.2:p.(Glu11650del)	NC_000002.11:g.179536978_179536980del	VUS	1 lab	207e201fd9
3:58131722 FLNB G>A	3	58131722	58131722	G	A	FLNB	c.5593G>A	NM_001164317.1	NP_001157789.1:p.(Gly1865Arg)	NC_000003.11:g.58131722G>A	(Likely) pathogenic	1 lab	208035962b
8:140744221 TRAPPC9 C>T	8	140744221	140744221	C	T	TRAPPC9	c.3573+1G>A	NM_031466.6	NP_113654.4:p.?	NC_000008.10:g.140744221C>T	(Likely) pathogenic	1 lab	208149c8a1
1:160093150 ATP1A2 T>C	1	160093150	160093150	T	C	ATP1A2	c.325T>C	NM_000702.3	NP_000693.1:p.(Cys109Arg)	NC_000001.10:g.160093150T>C	VUS	1 lab	2082fe14d6
18:19751831 GATA6 T>TGGCGGCGG	18	19751831	19751842	T	TGGCGGCGG	GATA6	c.730_737dup	NM_005257.5	NP_005248.2:p.(Gly250ArgfsTer47)	NC_000018.9:g.19751835_19751842dup	(Likely) pathogenic	1 lab	208361ea1a
11:47359954 MYBPC3 C>T	11	47359954	47359954	C	T	MYBPC3	c.2308+117G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359954C>T	(Likely) benign	1 lab	2088614742
17:29701118 NF1 A>G	17	29701118	29701118	A	G	NF1	c.8465A>G	NM_001042492.3	NP_001035957.1:p.(Gln2822Arg)	NC_000017.10:g.29701118A>G	VUS	1 lab	2089e5c3c7
6:42666128 PRPH2 A>C	6	42666128	42666128	A	C	PRPH2	c.946T>G	NM_000322.4	NP_000313.2:p.(Trp316Gly)	NC_000006.11:g.42666128A>C	VUS	1 lab	208af1c489
2:45169638 SIX3 T>TGCGC	2	45169638	45169650	T	TGCGC	SIX3	c.404_407dup	NM_005413.3	NP_005404.1:p.(Val137ArgfsTer18)	NC_000002.11:g.45169647_45169650dup	(Likely) pathogenic	1 lab	208b38cda0
19:10904475 DNM2 G>A	19	10904475	10904475	G	A	DNM2	c.1072G>A	NM_001005360.2	NP_001005360.1:p.(Gly358Arg)	NC_000019.9:g.10904475G>A	(Likely) pathogenic	1 lab	208c29898a
16:23652700 PALB2 C>G	16	23652700	23652700	C	G	PALB2				NC_000016.9:g.23652700C>G	(Likely) benign	1 lab	208f1c0401
4:88964532 PKD2 G>T	4	88964532	88964532	G	T	PKD2	c.1242G>T	NM_000297.4	NP_000288.1:p.(Trp414Cys)	NC_000004.11:g.88964532G>T	VUS	1 lab	2090924c21
18:28666528 DSC2 G>A	18	28666528	28666528	G	A	DSC2	c.942+11C>T	NM_004949.3	NP_004940.1:p.?	NC_000018.9:g.28666528G>A	(Likely) benign	1 lab	028f6e2921
10:8111498 GATA3 G>C	10	8111498	8111498	G	C	GATA3	c.987G>C	NM_001002295.2	NP_001002295.1:p.(Trp329Cys)	NC_000010.10:g.8111498G>C	VUS	1 lab	2099a570d0
2:179546471 TTN AAAGTACATAC>A	2	179546471	179546484	AAAGTACATAC	A	TTN	c.33095-16_33095-7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179546475_179546484del	(Likely) benign	1 lab	2099ce118e
8:38272334 FGFR1 TC>T	8	38272334	38272337	TC	T	FGFR1				NC_000008.10:g.38272337del	(Likely) pathogenic	1 lab	209a80b9cf
16:5289896 RBFOX1 C>G	16	5289896	5289896	C	G	RBFOX1	c.129C>G	NM_001415887.1	NP_001402816.1:p.(Ser43Arg)	NC_000016.9:g.5289896C>G	(Likely) benign	1 lab	daf07da855
16:81187704 PKD1L2 G>A	16	81187704	81187704	G	A	PKD1L2	c.2213C>T	NM_001278425.1	NP_001265354.1:p.(Pro738Leu)	NC_000016.9:g.81187704G>A	(Likely) benign	1 lab	db02cc8a68
3:186938048 MASP1 C>T	3	186938048	186938048	C	T	MASP1	c.1911G>A	NM_001879.5	NP_001870.3:p.(Gly637=)	NC_000003.11:g.186938048C>T	VUS	1 lab	db16a047ed
3:57850580 SLMAP C>A	3	57850580	57850580	C	A	SLMAP	c.1182C>A	NM_001304420.2	NP_001291349.1:p.(Ser394Arg)	NC_000003.11:g.57850580C>A	(Likely) benign	1 lab	20a30f39c7
18:52895549 TCF4 C>T	18	52895549	52895549	C	T	TCF4	c.1923G>A	NM_001083962.1	NP_001077431.1:p.(Glu641=)	NC_000018.9:g.52895549C>T	(Likely) benign	1 lab	20a7f40e51
7:128494103 FLNC G>C	7	128494103	128494103	G	C	FLNC	c.6560G>C	NM_001458.4	NP_001449.3:p.(Arg2187Pro)	NC_000007.13:g.128494103G>C	VUS	1 lab	20a863b6cd
7:66460276 SBDS C>G	7	66460276	66460276	C	G	SBDS	c.128+1G>C	NM_016038.2	NP_057122.2:p.?	NC_000007.13:g.66460276C>G	(Likely) pathogenic	1 lab	20a8c6741f
2:227968754 COL4A4 C>T	2	227968754	227968754	C	T	COL4A4	c.750G>A	NM_000092.4	NP_000083.3:p.(Gln250=)	NC_000002.11:g.227968754C>T	(Likely) benign	1 lab	20ac66ca7a
5:127782216 FBN2 G>A	5	127782216	127782216	G	A	FBN2	c.910C>T	NM_001999.3	NP_001990.2:p.(Pro304Ser)	NC_000005.9:g.127782216G>A	VUS	1 lab	20b08102e1
12:12300299 LRP6 C>T	12	12300299	12300299	C	T	LRP6	c.3397+1G>A	NM_002336.2	NP_002327.2:p.?	NC_000012.11:g.12300299C>T	(Likely) pathogenic	1 lab	20b0ae6bb1
X:152959387 SLC6A8 C>T	X	152959387	152959387	C	T	SLC6A8	c.1169C>T	NM_005629.3	NP_005620.1:p.(Pro390Leu)	NC_000023.10:g.152959387C>T	(Likely) pathogenic	1 lab	20b1c3e348
15:75183880 MPI C>T	15	75183880	75183880	C	T	MPI	c.305C>T	NM_002435.3	NP_002426.1:p.(Ser102Leu)	NC_000015.9:g.75183880C>T	(Likely) pathogenic	1 lab	20b2dba0cb
X:38144795 RPGR A>T	X	38144795	38144795	A	T	RPGR	c.3457T>A	NM_001034853.2	NP_001030025.1:p.(Ter1153LysextTer38)	NC_000023.10:g.38144795A>T	VUS	1 lab	20b55c8a29
1:152281317 FLG G>T	1	152281317	152281317	G	T	FLG	c.6045C>A	NM_002016.1	NP_002007.1:p.(Asp2015Glu)	NC_000001.10:g.152281317G>T	(Likely) benign	1 lab	20b7ed8ade
2:74274018 TET3 G>C	2	74274018	74274018	G	C	TET3	c.974G>C	NM_001287491.2	NP_001274420.1:p.(Ser325Thr)	NC_000002.11:g.74274018G>C	VUS	1 lab	20b9ace508
17:40481796 STAT3 T>C	17	40481796	40481796	T	C	STAT3	c.1110-2A>G	NM_139276.2	NP_644805.1:p.?	NC_000017.10:g.40481796T>C	(Likely) pathogenic	1 lab	20bd854175
17:48275867 COL1A1 T>C	17	48275867	48275867	T	C	COL1A1				NC_000017.10:g.48275867T>C	(Likely) pathogenic	1 lab	20c1abcead
3:186938892 MASP1 A>G	3	186938892	186938892	A	G	MASP1	c.1840T>C	NM_001879.5	NP_001870.3:p.(Cys614Arg)	NC_000003.11:g.186938892A>G	VUS	1 lab	dc36421d13
12:98925474 TMPO A>G	12	98925474	98925474	A	G	TMPO	c.423A>G	NM_001032283.2	NP_001027454.1:p.(Leu141=)	NC_000012.11:g.98925474A>G	(Likely) benign	1 lab	0291979d50
1:156105709 LMNA G>A	1	156105709	156105709	G	A	LMNA	c.954G>A	NM_170707.4	NP_733821.1:p.(Ala318=)	NC_000001.10:g.156105709G>A	(Likely) benign	1 lab	20c631e06d
X:100656711 GLA G>A	X	100656711	100656711	G	A	GLA	c.456C>T	NM_000169.2	NP_000160.1:p.(Tyr152=)	NC_000023.10:g.100656711G>A	(Likely) benign	1 lab	20caaf0656
15:48787361 FBN1 A>T	15	48787361	48787361	A	T	FBN1	c.2636T>A	NM_000138.5	NP_000129.3:p.(Leu879His)	NC_000015.9:g.48787361A>T	VUS	1 lab	20cebf57e2
13:23914263 SACS A>G	13	23914263	23914263	A	G	SACS	c.3752T>C	NM_014363.6	NP_055178.3:p.(Ile1251Thr)	NC_000013.10:g.23914263A>G	(Likely) benign	1 lab	0292b4f95e
X:102973915 GLRA4 G>A	X	102973915	102973915	G	A	GLRA4	n.1225+70C>T	NR_164162.1		NC_000023.10:g.102973915G>A	(Likely) benign	1 lab	dbd89a9cf0
2:227660781 IRS1 T>C	2	227660781	227660781	T	C	IRS1	c.2674A>G	NM_005544.2	NP_005535.1:p.(Ser892Gly)	NC_000002.11:g.227660781T>C	VUS	1 lab	02932a4b10
7:83047700 SEMA3E A>G	7	83047700	83047700	A	G	SEMA3E	c.550+6T>C	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83047700A>G	VUS	1 lab	ab824a0774
4:6292980 WFS1 G>T	4	6292980	6292980	G	T	WFS1	c.517G>T	NM_006005.3	NP_005996.2:p.(Glu173Ter)	NC_000004.11:g.6292980G>T	(Likely) pathogenic	1 lab	20d80c18a8
15:73617408 HCN4 G>A	15	73617408	73617408	G	A	HCN4	c.1866C>T	NM_005477.2	NP_005468.1:p.(Ile622=)	NC_000015.9:g.73617408G>A	(Likely) benign	1 lab	20d84767f6
1:161284297 SDHC T>C	1	161284297	161284297	T	C	SDHC	c.20+82T>C	NM_003001.3	NP_002992.1:p.?	NC_000001.10:g.161284297T>C	(Likely) benign	1 lab	20d9f0b812
19:35530538 SCN1B G>A	19	35530538	35530538	G	A	SCN1B	c.591-1G>A	NM_001037.4	NP_001028.1:p.?	NC_000019.9:g.35530538G>A	VUS	1 lab	20dce45ea8
1:61547626 NFIA G>A	1	61547626	61547626	G	A	NFIA	c.3+4326G>A	NM_001145511.1	NP_001138983.1:p.?	NC_000001.10:g.61547626G>A	VUS	1 lab	dc051ec53d
5:89989779 ADGRV1 G>A	5	89989779	89989779	G	A	ADGRV1	c.7206G>A	NM_032119.4	NP_115495.3:p.(Glu2402=)	NC_000005.9:g.89989779G>A	(Likely) benign	1 lab	20de582d2c
12:48383018 COL2A1 C>T	12	48383018	48383018	C	T	COL2A1				NC_000012.11:g.48383018C>T	(Likely) pathogenic	1 lab	20e7137254
6:30893728 VARS2 C>T	6	30893728	30893728	C	T	VARS2	c.3123C>T	NM_001167734.1	NP_001161206.1:p.(Asp1041=)	NC_000006.11:g.30893728C>T	(Likely) benign	1 lab	20eaab78e3
2:179659148 TTN T>G	2	179659148	179659148	T	G	TTN	c.1376A>C	NM_133379.4	NP_596870.2:p.(His459Pro)	NC_000002.11:g.179659148T>G	(Likely) benign	1 lab	20ebabe364
9:136505127 DBH C>T	9	136505127	136505127	C	T	DBH	c.486+13C>T	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136505127C>T	(Likely) benign	1 lab	20ebed2c92
14:23884649 MYH7 C>T	14	23884649	23884649	C	T	MYH7	c.5224G>A	NM_000257.4	NP_000248.2:p.(Glu1742Lys)	NC_000014.8:g.23884649C>T	VUS	1 lab	20efd945fd
3:31666473 STT3B G>A	3	31666473	31666473	G	A	STT3B	c.1795G>A	NM_178862.3	NP_849193.1:p.(Ala599Thr)	NC_000003.11:g.31666473G>A	VUS	1 lab	20f3e6acce
2:48921375 STON1-GTF2A1L T>C	2	48921375	48921375	T	C	STON1-GTF2A1L				NC_000002.11:g.48921375T>C	(Likely) benign	1 lab	20f4f007e7
5:112137082 APC T>C	5	112137082	112137082	T	C	APC	c.834+2T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112137082T>C	(Likely) pathogenic	1 lab	20f5b97d2d
1:156084836 LMNA G>A	1	156084836	156084836	G	A	LMNA				NC_000001.10:g.156084836G>A	VUS	1 lab	20f83a1b70
16:23555998 EARS2 G>A	16	23555998	23555998	G	A	EARS2	c.322C>T	NM_001083614.1	NP_001077083.1:p.(Arg108Trp)	NC_000016.9:g.23555998G>A	(Likely) pathogenic	1 lab	20f9bcb1c5
1:103481224 COL11A1 C>T	1	103481224	103481224	C	T	COL11A1	c.1488G>A	NM_001854.3	NP_001845.3:p.(Pro496=)	NC_000001.10:g.103481224C>T	VUS	1 lab	20fa6874d2
18:44219648 LOXHD1 T>A	18	44219648	44219648	T	A	LOXHD1				NC_000018.9:g.44219648T>A	(Likely) pathogenic	1 lab	20faaed79e
12:112924328 PTPN11 A>T	12	112924328	112924328	A	T	PTPN11	c.1274A>T	NM_002834.5	NP_002825.3:p.(Asp425Val)	NC_000012.11:g.112924328A>T	VUS	1 lab	20fbb65721
2:29294754 PCARE G>C	2	29294754	29294754	G	C	PCARE				NC_000002.11:g.29294754G>C	(Likely) benign	1 lab	20fe2b6abd
20:57430557 GNAS A>T	20	57430557	57430557	A	T	GNAS	c.1881+169A>T	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57430557A>T	(Likely) benign	1 lab	dc6022d610
17:59926512 BRIP1 C>T	17	59926512	59926512	C	T	BRIP1	c.485G>A	NM_032043.3	NP_114432.2:p.(Arg162Gln)	NC_000017.10:g.59926512C>T	VUS	1 lab	21028fafc7
10:50854574 CHAT G>C	10	50854574	50854574	G	C	CHAT	c.889G>C	NM_001142933.1	NP_001136405.1:p.(Asp297His)	NC_000010.10:g.50854574G>C	(Likely) benign	1 lab	0295965929
17:41245473 BRCA1 T>C	17	41245473	41245473	T	C	BRCA1	c.2075A>G	NM_007294.4	NP_009225.1:p.(His692Arg)	NC_000017.10:g.41245473T>C	(Likely) benign	1 lab	21077c00d7
9:139395262 NOTCH1 C>T	9	139395262	139395262	C	T	NOTCH1	c.5676G>A	NM_017617.3	NP_060087.3:p.(Gly1892=)	NC_000009.11:g.139395262C>T	(Likely) benign	1 lab	2107e6bdfd
6:65300520 EYS T>C	6	65300520	65300520	T	C	EYS	c.5240A>G	NM_001142800.1	NP_001136272.1:p.(Glu1747Gly)	NC_000006.11:g.65300520T>C	VUS	1 lab	2108fcb04b
2:240111790 HDAC4 C>A	2	240111790	240111790	C	A	HDAC4	c.95-17G>T	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240111790C>A	(Likely) benign	1 lab	2109ae6ff6
17:41226328 BRCA1 T>C	17	41226328	41226328	T	C	BRCA1	c.4675+20A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226328T>C	(Likely) benign	1 lab	210e2c1817
6:38906576 DNAH8 C>A	6	38906576	38906576	C	A	DNAH8	c.11819C>A	NM_001206927.1	NP_001193856.1:p.(Ser3940Tyr)	NC_000006.11:g.38906576C>A	VUS	1 lab	2111c357cf
15:38647695 SPRED1 G>A	15	38647695	38647695	G	A	SPRED1	c.*3830G>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38647695G>A	(Likely) benign	1 lab	21129cb487
2:228567017 SLC19A3 A>T	2	228567017	228567017	A	T	SLC19A3	c.18T>A	NM_025243.4	NP_079519.1:p.(Thr6=)	NC_000002.11:g.228567017A>T	(Likely) benign	1 lab	029b820f2e
4:77095523 SCARB2 G>A	4	77095523	77095523	G	A	SCARB2	c.825-57C>T	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77095523G>A	(Likely) benign	1 lab	029dca2809
12:6132055 VWF C>T	12	6132055	6132055	C	T	VWF	c.3389G>A	NM_000552.3	NP_000543.2:p.(Cys1130Tyr)	NC_000012.11:g.6132055C>T	(Likely) pathogenic	1 lab	211be52b76
6:64436584 EYS G>A	6	64436584	64436584	G	A	EYS				NC_000006.11:g.64436584G>A	(Likely) benign	1 lab	211d04ba82
19:38976788 RYR1 G>T	19	38976788	38976788	G	T	RYR1	c.5493G>T	NM_000540.2	NP_000531.2:p.(Gly1831=)	NC_000019.9:g.38976788G>T	(Likely) benign	1 lab	211e42532f
16:7637291 RBFOX1 C>T	16	7637291	7637291	C	T	RBFOX1	c.517C>T	NM_145891.2	NP_665898.1:p.(Arg173Ter)	NC_000016.9:g.7637291C>T	(Likely) pathogenic	1 lab	211f8d8b27
X:136648984 ZIC3 A>ACGCCGCCGC	X	136648984	136649011	A	ACGCCGCCGC	ZIC3	c.153_161dup	NM_003413.3	NP_003404.1:p.(Ala53_Ala55dup)	NC_000023.10:g.136649003_136649011dup	VUS	1 lab	211fad4570
17:58734163 PPM1D T>A	17	58734163	58734163	T	A	PPM1D				NC_000017.10:g.58734163T>A	(Likely) pathogenic	1 lab	322a155761
15:73615803 HCN4 T>A	15	73615803	73615803	T	A	HCN4	c.2631A>T	NM_005477.2	NP_005468.1:p.(Ser877=)	NC_000015.9:g.73615803T>A	(Likely) benign	1 lab	2122648cea
2:179436735 TTN G>A	2	179436735	179436735	G	A	TTN	c.74124C>T	NM_001267550.2	NP_001254479.2:p.(Ile24708=)	NC_000002.11:g.179436735G>A	(Likely) benign	1 lab	212580a8c4
2:166610972 GALNT3 CA>C	2	166610972	166610981	CA	C	GALNT3	c.1626+164del	NM_004482.4	NP_004473.2:p.?	NC_000002.11:g.166610981del	(Likely) benign	1 lab	029e313271
19:10939910 DNM2 G>A	19	10939910	10939910	G	A	DNM2	c.2257G>A	NM_001005361.2	NP_001005361.1:p.(Asp753Asn)	NC_000019.9:g.10939910G>A	VUS	1 lab	2127768712
15:91354521 BLM G>A	15	91354521	91354521	G	A	BLM	c.3961G>A	NM_000057.2	NP_000048.1:p.(Val1321Ile)	NC_000015.9:g.91354521G>A	(Likely) benign	1 lab	2129a496d0
20:32000571 SNTA1 G>A	20	32000571	32000571	G	A	SNTA1	c.719C>T	NM_003098.2	NP_003089.1:p.(Ser240Leu)	NC_000020.10:g.32000571G>A	(Likely) benign	1 lab	212ce5e63c
2:216235079 FN1 T>A	2	216235079	216235079	T	A	FN1	c.6791A>T	NM_212482.2	NP_997647.1:p.(Glu2264Val)	NC_000002.11:g.216235079T>A	(Likely) benign	1 lab	212d727f02
7:128488800 FLNC G>A	7	128488800	128488800	G	A	FLNC	c.4737+29G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128488800G>A	(Likely) benign	1 lab	21363a39b4
X:135741372 CD40LG T>C	X	135741372	135741372	T	C	CD40LG	c.584T>C	NM_000074.3	NP_000065.1:p.(Leu195Pro)	NC_000023.10:g.135741372T>C	(Likely) pathogenic	1 lab	2137751132
7:158536267 ESYT2 T>C	7	158536267	158536267	T	C	ESYT2	c.1828A>G	NM_020728.2	NP_065779.1:p.(Ser610Gly)	NC_000007.13:g.158536267T>C	(Likely) benign	1 lab	2137e65b7b
19:39220006 ACTN4 C>A	19	39220006	39220006	C	A	ACTN4	c.2670C>A	NM_004924.6	NP_004915.2:p.(Asp890Glu)	NC_000019.9:g.39220006C>A	(Likely) benign	1 lab	029e3c5a06
12:21998574 ABCC9 G>A	12	21998574	21998574	G	A	ABCC9	c.3059C>T	NM_005691.2	NP_005682.2:p.(Ser1020Leu)	NC_000012.11:g.21998574G>A	VUS	1 lab	2139e8c22a
7:40133818 CDK13 C>T	7	40133818	40133818	C	T	CDK13	c.3778C>T	NM_003718.5	NP_003709.3:p.(Arg1260Ter)	NC_000007.13:g.40133818C>T	VUS	1 lab	213c72fa2f
4:120107683 MYOZ2 G>A	4	120107683	120107683	G	A	MYOZ2	c.*328G>A	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107683G>A	(Likely) benign	1 lab	213e2e28b8
20:30421587 MYLK2 C>T	20	30421587	30421587	C	T	MYLK2	c.1778C>T	NM_033118.3	NP_149109.1:p.(Ala593Val)	NC_000020.10:g.30421587C>T	(Likely) benign	1 lab	02a09a65bf
11:61723421 BEST1 C>G	11	61723421	61723421	C	G	BEST1				NC_000011.9:g.61723421C>G	VUS	1 lab	32762ad6c7
17:59489870 LINC02875 AGGCCTCG>A	17	59489870	59489885	AGGCCTCG	A	LINC02875	n.768_774del	NR_160788.1		NC_000017.10:g.59489879_59489885del	(Likely) benign	1 lab	dcb61d4b32
12:6233698 VWF A>G	12	6233698	6233698	A	G	VWF	c.-112T>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6233698A>G	(Likely) benign	1 lab	21431328ad
17:45368429 ITGB3 G>C	17	45368429	45368429	G	C	ITGB3	c.1235G>C	NM_000212.2	NP_000203.2:p.(Cys412Ser)	NC_000017.10:g.45368429G>C	VUS	1 lab	21444346cc
14:61115534 SIX1 T>A	14	61115534	61115534	T	A	SIX1	c.374A>T	NM_005982.3	NP_005973.1:p.(Glu125Val)	NC_000014.8:g.61115534T>A	(Likely) pathogenic	1 lab	2146979ac2
10:50822226 CHAT T>G	10	50822226	50822226	T	G	CHAT	c.-10T>G	NM_020549.4	NP_065574.3:p.?	NC_000010.10:g.50822226T>G	(Likely) benign	1 lab	b4ace3b989
21:35743145 KCNE2 CCT>C	21	35743145	35743147	CCT	C	KCNE2	c.369_370del	NM_172201.1	NP_751951.1:p.(Ter124IleextTer14)	NC_000021.8:g.35743146_35743147del	(Likely) benign	1 lab	21477f06fb
7:2976884 CARD11 G>A	7	2976884	2976884	G	A	CARD11	c.1144-16C>T	NM_032415.6	NP_115791.3:p.?	NC_000007.13:g.2976884G>A	(Likely) benign	1 lab	02a1ce7eac
5:112178691 APC C>T	5	112178691	112178691	C	T	APC				NC_000005.9:g.112178691C>T	VUS	1 lab	02a2d99981
12:80805662 MISSING C>T	12	80805662	80805662	C	T	MISSING				NC_000012.11:g.80805662C>T	(Likely) benign	1 lab	214ae6d8b0
2:167262671 SCN7A T>C	2	167262671	167262671	T	C	SCN7A	c.4468A>G	NM_002976.4	NP_002967.2:p.(Met1490Val)	NC_000002.11:g.167262671T>C	VUS	1 lab	214eb2e31e
8:65528764 CYP7B1 G>A	8	65528764	65528764	G	A	CYP7B1	c.334C>T	NM_004820.3	NP_004811.1:p.(Arg112Ter)	NC_000008.10:g.65528764G>A	(Likely) pathogenic	1 lab	214f184381
10:89624271 KLLN A>T	10	89624271	89624271	A	T	KLLN				NC_000010.10:g.89624271A>T	(Likely) pathogenic	1 lab	2150c08584
1:45125936 TMEM53 TGCCTCCTTCCCACCTGGGCTGGGGCTGTTCTCTGAAACACAGATGTGGACTGTC>T	1	45125936	45125990	TGCCTCCTTCCCACCTGGGCTGGGGCTGTTCTCTGAAACACAGATGTGGACTGTC	T	TMEM53	c.62-23_92del	NM_024587.4	NP_078863.2:p.?	NC_000001.10:g.45125937_45125990del	(Likely) pathogenic	1 lab	2150ec92ac
4:43022362 GRXCR1 C>A	4	43022362	43022362	C	A	GRXCR1	c.628-9C>A	NM_001080476.2	NP_001073945.1:p.?	NC_000004.11:g.43022362C>A	(Likely) pathogenic	1 lab	2151f9dbf2
9:111696214 ELP1 A>C	9	111696214	111696214	A	C	ELP1	c.-126T>G	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111696214A>C	(Likely) benign	1 lab	0985a0a8a9
17:4926882 KIF1C A>G	17	4926882	4926882	A	G	KIF1C	c.2748A>G	NM_006612.5	NP_006603.2:p.(Pro916=)	NC_000017.10:g.4926882A>G	(Likely) benign	1 lab	21907823c9
6:135507083 MYB T>TAC	6	135507083	135507084	T	TAC	MYB	c.66_67insAC	NM_001130173.2	NP_001123645.1:p.(Asp23ThrfsTer30)	NC_000006.11:g.135507083_135507084insAC	VUS	1 lab	21549e34c6
1:228558958 OBSCN C>T	1	228558958	228558958	C	T	OBSCN	c.23350C>T	NM_001271223.2	NP_001258152.2:p.(Arg7784Trp)	NC_000001.10:g.228558958C>T	VUS	1 lab	21562d4a14
20:57429487 GNAS T>A	20	57429487	57429487	T	A	GNAS	c.980T>A	NM_001077490.1	NP_001070958.1:p.(Ile327Lys)	NC_000020.10:g.57429487T>A	(Likely) benign	1 lab	dcd2a10663
8:10469128 RP1L1 G>C	8	10469128	10469128	G	C	RP1L1	c.2480C>G	NM_178857.6	NP_849188.4:p.(Ser827Ter)	NC_000008.10:g.10469128G>C	(Likely) pathogenic	1 lab	215910007e
10:68535236 CTNNA3 T>C	10	68535236	68535236	T	C	CTNNA3	c.1094A>G	NM_013266.4	NP_037398.2:p.(Asn365Ser)	NC_000010.10:g.68535236T>C	(Likely) benign	1 lab	215aa4745a
16:67241785 FBXL9P A>G	16	67241785	67241785	A	G	FBXL9P	n.781T>C	NR_172488.1		NC_000016.9:g.67241785A>G	VUS	1 lab	dcf32e24d9
2:48018143 MSH6 AC>A	2	48018143	48018147	AC	A	MSH6				NC_000002.11:g.48018147del	(Likely) pathogenic	1 lab	215f9a282f
3:23963134 RPL15 C>T	3	23963134	23963134	C	T	RPL15	c.406C>T	NM_001253384.1	NP_001240313.1:p.(Arg136Trp)	NC_000003.11:g.23963134C>T	(Likely) benign	1 lab	de928d1757
X:153458917 OPN1MW G>T	X	153458917	153458917	G	T	OPN1MW				NC_000023.10:g.153458917G>T	(Likely) pathogenic	1 lab	21661d936e
10:68040230 CTNNA3 G>T	10	68040230	68040230	G	T	CTNNA3	c.1882C>A	NM_013266.3	NP_037398.2:p.(Arg628=)	NC_000010.10:g.68040230G>T	(Likely) benign	1 lab	2166e3a954
19:6502340 TUBB4A G>A	19	6502340	6502340	G	A	TUBB4A	c.37C>T	NM_001289123.1	NP_001276052.1:p.(Leu13Phe)	NC_000019.9:g.6502340G>A	(Likely) benign	1 lab	df1683f045
5:112173651 APC GT>G	5	112173651	112173652	GT	G	APC	c.2361del	NM_000038.6	NP_000029.2:p.(Ser787ArgfsTer33)	NC_000005.9:g.112173652del	(Likely) pathogenic	1 lab	2168630773
1:156084962 LMNA C>G	1	156084962	156084962	C	G	LMNA	c.253C>G	NM_170707.4	NP_733821.1:p.(Leu85Val)	NC_000001.10:g.156084962C>G	(Likely) pathogenic	1 lab	2168bf7051
10:69882003 MYPN C>T	10	69882003	69882003	C	T	MYPN	c.808C>T	NM_032578.3	NP_115967.2:p.(Arg270Trp)	NC_000010.10:g.69882003C>T	VUS	1 lab	2169135ef7
13:32910756 BRCA2 C>G	13	32910756	32910756	C	G	BRCA2	c.2264C>G	NM_000059.3	NP_000050.2:p.(Ser755Cys)	NC_000013.10:g.32910756C>G	(Likely) benign	1 lab	216aa88ed0
1:43396356 SLC2A1 G>A	1	43396356	43396356	G	A	SLC2A1	c.457C>T	NM_006516.2	NP_006507.2:p.(Arg153Cys)	NC_000001.10:g.43396356G>A	(Likely) pathogenic	1 lab	216df8cd97
17:1578489 PRPF8 G>A	17	1578489	1578489	G	A	PRPF8	c.3017C>T	NM_006445.3	NP_006436.3:p.(Ala1006Val)	NC_000017.10:g.1578489G>A	(Likely) pathogenic	1 lab	21715235e9
8:145623815 CPSF1 C>A	8	145623815	145623815	C	A	CPSF1	c.1771G>T	NM_013291.3	NP_037423.2:p.(Glu591Ter)	NC_000008.10:g.145623815C>A	(Likely) pathogenic	1 lab	217360e125
22:40711406 TNRC6B C>T	22	40711406	40711406	C	T	TNRC6B	c.4798C>T	NM_001162501.2	NP_001155973.1:p.(Arg1600Cys)	NC_000022.10:g.40711406C>T	VUS	1 lab	21793405fc
10:73550066 CDH23 A>G	10	73550066	73550066	A	G	CDH23	c.5945A>G	NM_022124.5	NP_071407.4:p.(Asn1982Ser)	NC_000010.10:g.73550066A>G	VUS	1 lab	2179577c5d
16:68771290 CDH1 C>G	16	68771290	68771290	C	G	CDH1	c.-29C>G	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68771290C>G	(Likely) benign	1 lab	217acbd55f
4:68619601 GNRHR G>A	4	68619601	68619601	G	A	GNRHR	c.453C>T	NM_000406.2	NP_000397.1:p.(Ser151=)	NC_000004.11:g.68619601G>A	(Likely) benign	1 lab	217e6dec79
5:112170816 APC A>G	5	112170816	112170816	A	G	APC	c.1912A>G	NM_000038.6	NP_000029.2:p.(Ile638Val)	NC_000005.9:g.112170816A>G	VUS	1 lab	217f9eb373
1:161276641 MPZ A>T	1	161276641	161276641	A	T	MPZ	c.305T>A	NM_000530.8	NP_000521.2:p.(Val102Glu)	NC_000001.10:g.161276641A>T	VUS	1 lab	218406b47b
3:121903195 CASR C>G	3	121903195	121903195	C	G	CASR	c.-424C>G	NM_001178065.1	NP_001171536.1:p.?	NC_000003.11:g.121903195C>G	(Likely) benign	1 lab	21841090d1
2:191841668 STAT1 C>T	2	191841668	191841668	C	T	STAT1	c.1957G>A	NM_007315.3	NP_009330.1:p.(Val653Ile)	NC_000002.11:g.191841668C>T	VUS	1 lab	2184f8ee22
19:36341921 NPHS1 G>C	19	36341921	36341921	G	C	NPHS1				NC_000019.9:g.36341921G>C	(Likely) pathogenic	1 lab	21859f86a8
3:132401544 NPHP3 T>TA	3	132401544	132401545	T	TA	NPHP3	c.3812+2dup	NM_153240.4	NP_694972.3:p.?	NC_000003.11:g.132401545dup	(Likely) pathogenic	1 lab	2185d4c560
16:83948600 MLYCD C>G	16	83948600	83948600	C	G	MLYCD	c.988C>G	NM_012213.2	NP_036345.2:p.(Pro330Ala)	NC_000016.9:g.83948600C>G	VUS	1 lab	2188f64397
18:29110911 DSG2 T>C	18	29110911	29110911	T	C	DSG2	c.1015-39T>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29110911T>C	(Likely) benign	1 lab	218a9f1936
4:120107576 MYOZ2 T>G	4	120107576	120107576	T	G	MYOZ2	c.*221T>G	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107576T>G	(Likely) benign	1 lab	218b8ead7b
2:179466887 TTN C>T	2	179466887	179466887	C	T	TTN	c.55121-10G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179466887C>T	VUS	1 lab	218cac28ba
1:236918363 ACTN2 C>A	1	236918363	236918363	C	A	ACTN2	c.2019C>A	NM_001103.3	NP_001094.1:p.(Asp673Glu)	NC_000001.10:g.236918363C>A	VUS	1 lab	21910ff01e
X:153296314 MECP2 G>A	X	153296314	153296314	G	A	MECP2	c.965C>T	NM_004992.3	NP_004983.1:p.(Pro322Leu)	NC_000023.10:g.153296314G>A	(Likely) pathogenic	1 lab	219160581d
16:30001023 TAOK2 A>G	16	30001023	30001023	A	G	TAOK2	c.2342A>G	NM_004783.3	NP_004774.1:p.(His781Arg)	NC_000016.9:g.30001023A>G	VUS	1 lab	df1f707aa4
2:227872924 COL4A4 G>T	2	227872924	227872924	G	T	COL4A4	c.4619C>A	NM_000092.4	NP_000083.3:p.(Ser1540Tyr)	NC_000002.11:g.227872924G>T	VUS	1 lab	02a8668295
6:31843881 SLC44A4 C>T	6	31843881	31843881	C	T	SLC44A4	c.115G>A	NM_025257.2	NP_079533.2:p.(Val39Ile)	NC_000006.11:g.31843881C>T	(Likely) benign	1 lab	2193749394
12:57600525 LRP1 G>A	12	57600525	57600525	G	A	LRP1	c.11859+1G>A	NM_002332.3	NP_002323.2:p.?	NC_000012.11:g.57600525G>A	VUS	1 lab	219499e066
4:52904395 SGCB G>A	4	52904395	52904395	G	A	SGCB	c.31C>T	NM_000232.5	NP_000223.1:p.(Gln11Ter)	NC_000004.11:g.52904395G>A	(Likely) pathogenic	1 lab	2194acd3df
1:241669383 FH C>T	1	241669383	241669383	C	T	FH	c.824G>A	NM_000143.3	NP_000134.2:p.(Gly275Glu)	NC_000001.10:g.241669383C>T	(Likely) pathogenic	1 lab	219784d40b
10:67726473 CTNNA3 A>G	10	67726473	67726473	A	G	CTNNA3	c.2297T>C	NM_013266.3	NP_037398.2:p.(Leu766Ser)	NC_000010.10:g.67726473A>G	VUS	1 lab	219d5266b8
15:89820093 FANCI G>A	15	89820093	89820093	G	A	FANCI	c.1264G>A	NM_001113378.2	NP_001106849.1:p.(Gly422Arg)	NC_000015.9:g.89820093G>A	(Likely) pathogenic	1 lab	21a0b5b207
10:67726456 CTNNA3 T>C	10	67726456	67726456	T	C	CTNNA3	c.2314A>G	NM_013266.3	NP_037398.2:p.(Ile772Val)	NC_000010.10:g.67726456T>C	VUS	1 lab	21a3f97560
16:23226581 SCNN1G T>C	16	23226581	23226581	T	C	SCNN1G	c.1741T>C	NM_001039.3	NP_001030.2:p.(Cys581Arg)	NC_000016.9:g.23226581T>C	(Likely) benign	1 lab	21a4e621d4
11:2169013 IGF2 A>G	11	2169013	2169013	A	G	IGF2	c.-224T>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2169013A>G	(Likely) benign	1 lab	df8f85fb9c
2:179403529 TTN T>C	2	179403529	179403529	T	C	TTN	c.99027A>G	NM_001267550.2	NP_001254479.2:p.(Ser33009=)	NC_000002.11:g.179403529T>C	(Likely) benign	1 lab	21a6045a92
14:23899005 MYH7 C>T	14	23899005	23899005	C	T	MYH7	c.1117G>A	NM_000257.3	NP_000248.2:p.(Ala373Thr)	NC_000014.8:g.23899005C>T	VUS	1 lab	21a768bfa2
X:110406926 PAK3 T>A	X	110406926	110406926	T	A	PAK3				NC_000023.10:g.110406926T>A	VUS	1 lab	2235a3c4df
X:152036194 NSDHL C>T	X	152036194	152036194	C	T	NSDHL	c.766C>T	NM_015922.3	NP_057006.1:p.(Arg256Ter)	NC_000023.10:g.152036194C>T	(Likely) pathogenic	1 lab	21aa10dd3f
X:77041501 ATRX C>T	X	77041501	77041501	C	T	ATRX	c.-14G>A	NM_000489.3	NP_000480.2:p.?	NC_000023.10:g.77041501C>T	(Likely) benign	1 lab	21aa147bc3
19:39068641 RYR1 A>C	19	39068641	39068641	A	C	RYR1	c.14256A>C	NM_000540.2	NP_000531.2:p.(Thr4752=)	NC_000019.9:g.39068641A>C	(Likely) benign	1 lab	21ab93e0e4
8:63985648 TTPA C>G	8	63985648	63985648	C	G	TTPA	c.205-1G>C	NM_000370.3	NP_000361.1:p.?	NC_000008.10:g.63985648C>G	(Likely) pathogenic	1 lab	21acb761ad
1:94520690 ABCA4 C>T	1	94520690	94520690	C	T	ABCA4	c.2564G>A	NM_000350.2	NP_000341.2:p.(Trp855Ter)	NC_000001.10:g.94520690C>T	(Likely) pathogenic	1 lab	21b02ef74f
3:23963133 RPL15 AC>A	3	23963133	23963134	AC	A	RPL15	c.406del	NM_001253384.1	NP_001240313.1:p.(Arg136GlyfsTer57)	NC_000003.11:g.23963134del	(Likely) benign	1 lab	dfbdda7fb5
3:38518936 ACVR2B G>A	3	38518936	38518936	G	A	ACVR2B	c.211G>A	NM_001106.3	NP_001097.2:p.(Glu71Lys)	NC_000003.11:g.38518936G>A	(Likely) benign	1 lab	21b120aa35
4:186435412 PDLIM3 A>G	4	186435412	186435412	A	G	PDLIM3				NC_000004.11:g.186435412A>G	VUS	1 lab	21b75336f4
14:102469031 DYNC1H1 G>A	14	102469031	102469031	G	A	DYNC1H1	c.4700G>A	NM_001376.4	NP_001367.2:p.(Arg1567Gln)	NC_000014.8:g.102469031G>A	(Likely) pathogenic	1 lab	21b816f0bb
6:76596625 MYO6 A>C	6	76596625	76596625	A	C	MYO6	c.2572A>C	NM_004999.3	NP_004990.3:p.(Ser858Arg)	NC_000006.11:g.76596625A>C	(Likely) benign	1 lab	21b9b54b20
3:37089009 MLH1 G>C	3	37089009	37089009	G	C	MLH1	c.1732-1G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37089009G>C	(Likely) pathogenic	1 lab	21ba12604a
18:59828451 PIGN ATCT>A	18	59828451	59828457	ATCT	A	PIGN	c.133_135del	NM_176787.5	NP_789744.1:p.(Arg45del)	NC_000018.9:g.59828455_59828457del	(Likely) pathogenic	1 lab	21bd8bcdc7
3:189586389 TP63 G>A	3	189586389	189586389	G	A	TP63				NC_000003.11:g.189586389G>A	(Likely) pathogenic	1 lab	21c10a4f70
6:33134846 COL11A2 C>T	6	33134846	33134846	C	T	COL11A2	c.4230+1G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33134846C>T	(Likely) pathogenic	1 lab	21c2dbd6b3
19:50713993 MYH14 A>G	19	50713993	50713993	A	G	MYH14	c.371A>G	NM_001145809.2	NP_001139281.1:p.(Asn124Ser)	NC_000019.9:g.50713993A>G	VUS	1 lab	21c6414d1a
21:36259270 RUNX1 C>T	21	36259270	36259270	C	T	RUNX1	c.140G>A	NM_001001890.3	NP_001001890.1:p.(Gly47Asp)	NC_000021.8:g.36259270C>T	(Likely) benign	1 lab	02aa002323
6:33135082 COL11A2 G>A	6	33135082	33135082	G	A	COL11A2	c.4135C>T	NM_080680.2	NP_542411.2:p.(Arg1379Ter)	NC_000006.11:g.33135082G>A	(Likely) pathogenic	1 lab	21cc504448
11:26681885 ANO3 G>A	11	26681885	26681885	G	A	ANO3	c.2840G>A	NM_031418.4	NP_113606.2:p.(Arg947Gln)	NC_000011.9:g.26681885G>A	VUS	1 lab	21d16ce966
2:220283305 DES G>A	2	220283305	220283305	G	A	DES	c.121G>A	NM_001927.3	NP_001918.3:p.(Gly41Ser)	NC_000002.11:g.220283305G>A	VUS	1 lab	21d2d2987e
X:39933260 BCOR C>G	X	39933260	39933260	C	G	BCOR	c.1339G>C	NM_001123385.2	NP_001116857.1:p.(Val447Leu)	NC_000023.10:g.39933260C>G	VUS	1 lab	21d3b63426
17:73518262 TSEN54 A>G	17	73518262	73518262	A	G	TSEN54				NC_000017.10:g.73518262A>G	VUS	1 lab	21d4c8d60b
5:112175770 APC G>GCA	5	112175770	112175771	G	GCA	APC	c.4479_4480insCA	NM_000038.6	NP_000029.2:p.(Glu1494GlnfsTer14)	NC_000005.9:g.112175770_112175771insCA	(Likely) pathogenic	1 lab	21d79d0f62
2:47641454 MSH2 T>G	2	47641454	47641454	T	G	MSH2	c.839T>G	NM_000251.2	NP_000242.1:p.(Leu280Ter)	NC_000002.11:g.47641454T>G	(Likely) pathogenic	1 lab	21e196793d
11:62638310 SLC3A2 GTAATAATAA>G	11	62638310	62638329	GTAATAATAA	G	SLC3A2	c.113-728_113-720del	NM_001012662.2	NP_001012680.1:p.?	NC_000011.9:g.62638321_62638329del	VUS	1 lab	dffc6d65cb
16:23641793 PALB2 A>G	16	23641793	23641793	A	G	PALB2	c.1685-3T>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23641793A>G	(Likely) benign	1 lab	21e3fa0878
1:180243598 LHX4 A>T	1	180243598	180243598	A	T	LHX4	c.1057A>T	NM_033343.3	NP_203129.1:p.(Arg353Ter)	NC_000001.10:g.180243598A>T	VUS	1 lab	21e5a59328
4:155510665 FGA C>T	4	155510665	155510665	C	T	FGA	c.104G>A	NM_000508.4	NP_000499.1:p.(Arg35His)	NC_000004.11:g.155510665C>T	(Likely) pathogenic	1 lab	21e7c4309a
9:6587273 GLDC C>T	9	6587273	6587273	C	T	GLDC	c.1718G>A	NM_000170.2	NP_000161.2:p.(Trp573Ter)	NC_000009.11:g.6587273C>T	(Likely) pathogenic	1 lab	21efb196c9
6:42690083 PRPH2 T>G	6	42690083	42690083	T	G	PRPH2	c.-11A>C	NM_000322.4	NP_000313.2:p.?	NC_000006.11:g.42690083T>G	(Likely) benign	1 lab	21f1b07635
2:179437837 TTN G>C	2	179437837	179437837	G	C	TTN	c.73022C>G	NM_001267550.2	NP_001254479.2:p.(Ser24341Ter)	NC_000002.11:g.179437837G>C	(Likely) pathogenic	1 lab	21f218d4a4
12:116429367 MED13L C>T	12	116429367	116429367	C	T	MED13L	c.3392G>A	NM_015335.4	NP_056150.1:p.(Cys1131Tyr)	NC_000012.11:g.116429367C>T	(Likely) pathogenic	1 lab	21f6d27887
16:89346193 ANKRD11 TCC>T	16	89346193	89346197	TCC	T	ANKRD11	c.6755_6756del	NM_013275.6	NP_037407.4:p.(Gly2252GlufsTer7)	NC_000016.9:g.89346196_89346197del	(Likely) pathogenic	1 lab	21fd746f24
20:42788821 JPH2 G>C	20	42788821	42788821	G	C	JPH2	c.606C>G	NM_020433.4	NP_065166.2:p.(Leu202=)	NC_000020.10:g.42788821G>C	(Likely) benign	1 lab	21ff1b8700
15:20659093 HERC2P3 CTG>C	15	20659093	20659096	CTG	C	HERC2P3	n.1753_1754del	NR_036432.1		NC_000015.9:g.20659095_20659096del	VUS	1 lab	e1cb97086c
15:44890912 SPG11 A>T	15	44890912	44890912	A	T	SPG11	c.3809T>A	NM_025137.3	NP_079413.3:p.(Val1270Asp)	NC_000015.9:g.44890912A>T	VUS	1 lab	220272566c
5:67591099 PIK3R1 C>G	5	67591099	67591099	C	G	PIK3R1	c.1692C>G	NM_181523.2	NP_852664.1:p.(Asn564Lys)	NC_000005.9:g.67591099C>G	(Likely) pathogenic	1 lab	220379fa43
12:57977003 KIF5A C>T	12	57977003	57977003	C	T	KIF5A	c.*36+5C>T	NM_004984.2	NP_004975.2:p.?	NC_000012.11:g.57977003C>T	(Likely) benign	1 lab	2209006dcd
13:32913509 BRCA2 A>G	13	32913509	32913509	A	G	BRCA2	c.5017A>G	NM_000059.3	NP_000050.2:p.(Thr1673Ala)	NC_000013.10:g.32913509A>G	(Likely) benign	1 lab	2209d1ae58
3:37089112 MLH1 G>A	3	37089112	37089112	G	A	MLH1	c.1834G>A	NM_000249.4	NP_000240.1:p.(Val612Ile)	NC_000003.11:g.37089112G>A	VUS	1 lab	220e70c4ec
12:65632363 LEMD3 T>A	12	65632363	65632363	T	A	LEMD3	c.1775+2T>A	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65632363T>A	(Likely) pathogenic	1 lab	220f0d9a10
5:112111345 APC C>A	5	112111345	112111345	C	A	APC	c.442C>A	NM_000038.5	NP_000029.2:p.(Leu148Ile)	NC_000005.9:g.112111345C>A	VUS	1 lab	22118579df
4:5754579 EVC C>T	4	5754579	5754579	C	T	EVC	c.1115C>T	NM_153717.2	NP_714928.1:p.(Thr372Met)	NC_000004.11:g.5754579C>T	(Likely) benign	1 lab	22174a3e92
1:216373196 USH2A C>A	1	216373196	216373196	C	A	USH2A				NC_000001.10:g.216373196C>A	VUS	1 lab	230f3c06f6
1:19201900 ALDH4A1 G>A	1	19201900	19201900	G	A	ALDH4A1	c.1436C>T	NM_003748.4	NP_003739.2:p.(Thr479Met)	NC_000001.10:g.19201900G>A	(Likely) pathogenic	1 lab	22178b8831
2:136595623 LCT C>T	2	136595623	136595623	C	T	LCT				NC_000002.11:g.136595623C>T	(Likely) benign	1 lab	221a83591a
1:68906680 RPE65 C>A	1	68906680	68906680	C	A	RPE65	c.499G>T	NM_000329.2	NP_000320.1:p.(Asp167Tyr)	NC_000001.10:g.68906680C>A	(Likely) pathogenic	1 lab	221c154184
19:39879928 MISSING T>A	19	39879928	39879928	T	A	MISSING				NC_000019.9:g.39879928T>A	VUS	1 lab	221c653261
1:57347283 C8A C>A	1	57347283	57347283	C	A	C8A	c.630C>A	NM_000562.2	NP_000553.1:p.(Tyr210Ter)	NC_000001.10:g.57347283C>A	(Likely) pathogenic	1 lab	221f3fd903
6:123850440 TRDN T>C	6	123850440	123850440	T	C	TRDN	c.485-2A>G	NM_001256022.1	NP_001242951.1:p.?	NC_000006.11:g.123850440T>C	(Likely) pathogenic	1 lab	2222d57c39
6:7727305 BMP6 C>T	6	7727305	7727305	C	T	BMP6	c.117C>T	NM_001718.6	NP_001709.1:p.(Ala39=)	NC_000006.11:g.7727305C>T	(Likely) benign	1 lab	22234f96bb
1:19202936 ALDH4A1 A>G	1	19202936	19202936	A	G	ALDH4A1	c.1211T>C	NM_003748.4	NP_003739.2:p.(Leu404Pro)	NC_000001.10:g.19202936A>G	(Likely) pathogenic	1 lab	2223523bc1
16:67645442 CTCF T>G	16	67645442	67645442	T	G	CTCF	c.707T>G	NM_006565.3	NP_006556.1:p.(Leu236Arg)	NC_000016.9:g.67645442T>G	VUS	1 lab	222704de39
10:72207672 NODAL G>A	10	72207672	72207672	G	A	NODAL	c.-207+8C>T	NM_001329906.1	NP_001316835.1:p.?	NC_000010.10:g.72207672G>A	(Likely) benign	1 lab	e217eab277
3:130653555 ATP2C1 G>C	3	130653555	130653555	G	C	ATP2C1	c.324G>C	NM_001378687.1	NP_001365616.1:p.(Val108=)	NC_000003.11:g.130653555G>C	VUS	1 lab	222835b3de
14:64680996 SYNE2 C>T	14	64680996	64680996	C	T	SYNE2	c.19141C>T	NM_182914.2	NP_878918.2:p.(Arg6381Trp)	NC_000014.8:g.64680996C>T	(Likely) benign	1 lab	2228c1990e
17:19265850 B9D1 G>A	17	19265850	19265850	G	A	B9D1	c.33C>T	NM_001321218.2	NP_001308147.1:p.(Leu11=)	NC_000017.10:g.19265850G>A	(Likely) benign	1 lab	02ae8112eb
5:169506149 DOCK2 G>A	5	169506149	169506149	G	A	DOCK2	c.5165G>A	NM_004946.3	NP_004937.1:p.(Arg1722Gln)	NC_000005.9:g.169506149G>A	(Likely) benign	1 lab	02aed9284c
8:145582270 SLC52A2 G>A	8	145582270	145582270	G	A	SLC52A2	c.-155G>A	NM_001253815.1	NP_001240744.1:p.?	NC_000008.10:g.145582270G>A	(Likely) benign	1 lab	e236bb2dd2
8:145017937 PLEC C>T	8	145017937	145017937	C	T	PLEC	c.194-5077G>A	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145017937C>T	(Likely) benign	1 lab	e236cb7fcd
10:21120192 NEBL C>T	10	21120192	21120192	C	T	NEBL	c.1604G>A	NM_006393.2	NP_006384.1:p.(Gly535Glu)	NC_000010.10:g.21120192C>T	VUS	1 lab	2236682f42
17:44962456 WNT9B G>A	17	44962456	44962456	G	A	WNT9B	c.961G>A	NM_001320458.1	NP_001307387.1:p.(Ala321Thr)	NC_000017.10:g.44962456G>A	(Likely) benign	1 lab	e23c15bd61
6:149539757 TAB2 A>G	6	149539757	149539757	A	G	TAB2	c.-148-2A>G	NM_001292035.2	NP_001278964.1:p.?	NC_000006.11:g.149539757A>G	VUS	1 lab	e268084620
2:166245220 SCN2A G>A	2	166245220	166245220	G	A	SCN2A	c.4904G>A	NM_021007.2	NP_066287.2:p.(Arg1635Gln)	NC_000002.11:g.166245220G>A	(Likely) pathogenic	1 lab	22383a8c05
2:167141269 SCN9A A>G	2	167141269	167141269	A	G	SCN9A	c.1668T>C	NM_001365536.1	NP_001352465.1:p.(Ser556=)	NC_000002.11:g.167141269A>G	(Likely) benign	1 lab	223882ed43
15:48796068 FBN1 C>T	15	48796068	48796068	C	T	FBN1	c.2029G>A	NM_000138.4	NP_000129.3:p.(Ala677Thr)	NC_000015.9:g.48796068C>T	VUS	1 lab	2238e7d5d2
21:47537344 COL6A2 T>G	21	47537344	47537344	T	G	COL6A2	c.1030T>G	NM_001849.3	NP_001840.3:p.(Cys344Gly)	NC_000021.8:g.47537344T>G	VUS	1 lab	223c130dbb
3:25215889 RARB A>G	3	25215889	25215889	A	G	RARB	c.1A>G	NM_001290216.1	NP_001277145.1:p.(Met1?)	NC_000003.11:g.25215889A>G	VUS	1 lab	e286c01dc1
X:68060347 EFNB1 C>T	X	68060347	68060347	C	T	EFNB1	c.891C>T	NM_004429.4	NP_004420.1:p.(Thr297=)	NC_000023.10:g.68060347C>T	(Likely) benign	1 lab	223eb1a76d
20:57429910 GNAS C>T	20	57429910	57429910	C	T	GNAS	c.1403C>T	NM_001077490.1	NP_001070958.1:p.(Pro468Leu)	NC_000020.10:g.57429910C>T	VUS	1 lab	e2b6e97eb2
10:73565590 CDH23 G>T	10	73565590	73565590	G	T	CDH23	c.7900G>T	NM_022124.6	NP_071407.4:p.(Glu2634Ter)	NC_000010.10:g.73565590G>T	(Likely) pathogenic	1 lab	2248b4fd34
11:108153466 ATM A>T	11	108153466	108153466	A	T	ATM	c.3606A>T	NM_000051.4	NP_000042.3:p.(Gly1202=)	NC_000011.9:g.108153466A>T	(Likely) benign	1 lab	224a861edc
16:1498777 CLCN7 G>A	16	1498777	1498777	G	A	CLCN7	c.1798-10C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1498777G>A	(Likely) benign	1 lab	224b6a77c0
X:20205981 RPS6KA3 G>A	X	20205981	20205981	G	A	RPS6KA3	c.739C>T	NM_004586.2	NP_004577.1:p.(Gln247Ter)	NC_000023.10:g.20205981G>A	(Likely) pathogenic	1 lab	224c2654ff
9:129377661 LMX1B G>A	9	129377661	129377661	G	A	LMX1B	c.140-1G>A	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129377661G>A	(Likely) pathogenic	1 lab	224cb329b1
7:151933033 KMT2C G>A	7	151933033	151933033	G	A	KMT2C	c.2653-15C>T	NM_170606.2	NP_733751.2:p.?	NC_000007.13:g.151933033G>A	(Likely) benign	1 lab	224ccfef32
11:108168131 ATM C>T	11	108168131	108168131	C	T	ATM	c.5005+22C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108168131C>T	(Likely) benign	1 lab	224eb057f8
20:62290817 RTEL1 A>T	20	62290817	62290817	A	T	RTEL1	c.62A>T	NM_032957.4	NP_116575.3:p.(Gln21Leu)	NC_000020.10:g.62290817A>T	VUS	1 lab	2252acc684
6:87964573 ZNF292 T>C	6	87964573	87964573	T	C	ZNF292	c.1226T>C	NM_015021.3	NP_055836.1:p.(Leu409Ser)	NC_000006.11:g.87964573T>C	VUS	1 lab	2253250195
11:47372871 MYBPC3 C>T	11	47372871	47372871	C	T	MYBPC3	c.211G>A	NM_000256.3	NP_000247.2:p.(Val71Met)	NC_000011.9:g.47372871C>T	VUS	1 lab	22579b6f7d
4:52899750 SGCB CCTT>C	4	52899750	52899755	CCTT	C	SGCB	c.87_89del	NM_000232.4	NP_000223.1:p.(Arg30del)	NC_000004.11:g.52899753_52899755del	VUS	1 lab	2258341274
1:215853720 USH2A T>C	1	215853720	215853720	T	C	USH2A	c.12067-2A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215853720T>C	(Likely) pathogenic	1 lab	225880b49a
6:152652302 SYNE1 G>C	6	152652302	152652302	G	C	SYNE1				NC_000006.11:g.152652302G>C	(Likely) pathogenic	1 lab	225af7f128
12:116460307 MED13L A>G	12	116460307	116460307	A	G	MED13L	c.579T>C	NM_015335.4	NP_056150.1:p.(Asn193=)	NC_000012.11:g.116460307A>G	(Likely) benign	1 lab	225c2712cd
11:119212382 MFRP C>A	11	119212382	119212382	C	A	MFRP	c.1616G>T	NM_031433.3	NP_113621.1:p.(Arg539Leu)	NC_000011.9:g.119212382C>A	VUS	1 lab	225df94d7d
12:6442607 TNFRSF1A C>T	12	6442607	6442607	C	T	TNFRSF1A	c.398G>A	NM_001065.3	NP_001056.1:p.(Arg133Gln)	NC_000012.11:g.6442607C>T	VUS	1 lab	02b0d9506a
7:6035191 PMS2 T>C	7	6035191	6035191	T	C	PMS2	c.877A>G	NM_000535.5	NP_000526.1:p.(Asn293Asp)	NC_000007.13:g.6035191T>C	VUS	1 lab	226324a376
1:173873052 SERPINC1 C>G	1	173873052	173873052	C	G	SERPINC1	c.1370G>C	NM_000488.4	NP_000479.1:p.(Arg457Thr)	NC_000001.10:g.173873052C>G	(Likely) pathogenic	1 lab	226366a0f8
X:585064 SHOX G>C	X	585064	585064	G	C	SHOX				NC_000023.10:g.585064G>C	(Likely) benign	1 lab	2263c7599f
19:54625971 PRPF31 A>T	19	54625971	54625971	A	T	PRPF31	c.418A>T	NM_015629.3	NP_056444.3:p.(Lys140Ter)	NC_000019.9:g.54625971A>T	(Likely) pathogenic	1 lab	2266a29e91
2:48027994 MSH6 C>T	2	48027994	48027994	C	T	MSH6	c.2872C>T	NM_000179.2	NP_000170.1:p.(Gln958Ter)	NC_000002.11:g.48027994C>T	(Likely) pathogenic	1 lab	226abb796e
1:111146320 KCNA2 G>A	1	111146320	111146320	G	A	KCNA2	c.1085C>T	NM_004974.3	NP_004965.1:p.(Pro362Leu)	NC_000001.10:g.111146320G>A	(Likely) benign	1 lab	226ba8d459
19:33355081 SLC7A9 G>A	19	33355081	33355081	G	A	SLC7A9	c.399C>T	NM_014270.4	NP_055085.1:p.(Ser133=)	NC_000019.9:g.33355081G>A	(Likely) benign	1 lab	226d762a61
2:1947036 MYT1L G>A	2	1947036	1947036	G	A	MYT1L	c.223C>T	NM_015025.3	NP_055840.2:p.(Arg75Ter)	NC_000002.11:g.1947036G>A	(Likely) pathogenic	1 lab	2271870450
17:7579548 TP53 G>A	17	7579548	7579548	G	A	TP53	c.139C>T	NM_000546.6	NP_000537.3:p.(Pro47Ser)	NC_000017.10:g.7579548G>A	(Likely) benign	1 lab	2273ab6962
6:43540302 XPO5 C>T	6	43540302	43540302	C	T	XPO5	c.241G>A	NM_020750.3	NP_065801.1:p.(Gly81Ser)	NC_000006.11:g.43540302C>T	(Likely) benign	1 lab	02b1d41b91
22:25601325 CRYBB3 G>C	22	25601325	25601325	G	C	CRYBB3	c.466G>C	NM_004076.5	NP_004067.1:p.(Gly156Arg)	NC_000022.10:g.25601325G>C	(Likely) pathogenic	1 lab	2278d67bbf
17:41244553 BRCA1 G>C	17	41244553	41244553	G	C	BRCA1	c.2995C>G	NM_007294.3	NP_009225.1:p.(Leu999Val)	NC_000017.10:g.41244553G>C	(Likely) benign	1 lab	227bea773e
17:59560685 TBX4 C>T	17	59560685	59560685	C	T	TBX4	c.1446C>T	NM_018488.2	NP_060958.2:p.(Val482=)	NC_000017.10:g.59560685C>T	(Likely) benign	1 lab	227c1efbde
2:179411532 TTN G>A	2	179411532	179411532	G	A	TTN	c.94623C>T	NM_001267550.2	NP_001254479.2:p.(Tyr31541=)	NC_000002.11:g.179411532G>A	(Likely) benign	1 lab	227cbcc5df
X:138643971 F9 T>C	X	138643971	138643971	T	C	F9	c.1127T>C	NM_000133.3	NP_000124.1:p.(Leu376Pro)	NC_000023.10:g.138643971T>C	(Likely) pathogenic	1 lab	2282b74c34
9:2110344 SMARCA2 C>A	9	2110344	2110344	C	A	SMARCA2	c.3383C>A	NM_003070.4	NP_003061.3:p.(Ala1128Asp)	NC_000009.11:g.2110344C>A	VUS	1 lab	22867fefb0
9:711397 KANK1 C>T	9	711397	711397	C	T	KANK1	c.631C>T	NM_001256876.1	NP_001243805.1:p.(Gln211Ter)	NC_000009.11:g.711397C>T	VUS	1 lab	229079850c
1:103468815 COL11A1 C>A	1	103468815	103468815	C	A	COL11A1	c.1954G>T	NM_001854.3	NP_001845.3:p.(Gly652Cys)	NC_000001.10:g.103468815C>A	(Likely) pathogenic	1 lab	22913515c9
20:30411289 MYLK2 C>G	20	30411289	30411289	C	G	MYLK2	c.782C>G	NM_033118.4	NP_149109.1:p.(Pro261Arg)	NC_000020.10:g.30411289C>G	VUS	1 lab	2295ada918
10:89725142 PTEN T>C	10	89725142	89725142	T	C	PTEN	c.1125T>C	NM_000314.8	NP_000305.3:p.(Asp375=)	NC_000010.10:g.89725142T>C	(Likely) benign	1 lab	229b7d36c9
1:228452031 OBSCN C>T	1	228452031	228452031	C	T	OBSCN	c.5352C>T	NM_001271223.2	NP_001258152.2:p.(Asp1784=)	NC_000001.10:g.228452031C>T	(Likely) benign	1 lab	229d7d508a
10:112724262 SHOC2 A>T	10	112724262	112724262	A	T	SHOC2	c.146A>T	NM_007373.4	NP_031399.2:p.(Asp49Val)	NC_000010.10:g.112724262A>T	(Likely) benign	1 lab	22a169ec65
1:231125871 ARV1 TG>T	1	231125871	231125872	TG	T	ARV1	c.311del	NM_022786.3	NP_073623.1:p.(Cys104SerfsTer11)	NC_000001.10:g.231125872del	(Likely) pathogenic	1 lab	22a1a1321c
21:33066525 SCAF4 T>TG	21	33066525	33066526	T	TG	SCAF4	c.1313dup	NM_020706.2	NP_065757.1:p.(Ala439SerfsTer11)	NC_000021.8:g.33066526dup	(Likely) pathogenic	1 lab	22a7709aa3
9:131375694 SPTAN1 A>G	9	131375694	131375694	A	G	SPTAN1	c.5078A>G	NM_001130438.2	NP_001123910.1:p.(Lys1693Arg)	NC_000009.11:g.131375694A>G	VUS	1 lab	22ac1b7fa3
10:92678736 ANKRD1 C>A	10	92678736	92678736	C	A	ANKRD1	c.346-7G>T	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92678736C>A	(Likely) benign	1 lab	22ad430f9e
7:157177597 DNAJB6 T>C	7	157177597	157177597	T	C	DNAJB6	c.515T>C	NM_058246.3	NP_490647.1:p.(Leu172Pro)	NC_000007.13:g.157177597T>C	VUS	1 lab	22b175fc29
17:29557405 NF1 G>A	17	29557405	29557405	G	A	NF1	c.3113+5G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29557405G>A	(Likely) pathogenic	1 lab	22b3cca174
15:89386733 ACAN T>C	15	89386733	89386733	T	C	ACAN	c.905T>C	NM_013227.3	NP_037359.3:p.(Leu302Pro)	NC_000015.9:g.89386733T>C	VUS	1 lab	22b54a953c
8:72127637 EYA1 T>G	8	72127637	72127637	T	G	EYA1	c.1582A>C	NM_172058.3	NP_742055.1:p.(Ser528Arg)	NC_000008.10:g.72127637T>G	VUS	1 lab	22b6c31f60
1:115258748 NRAS C>T	1	115258748	115258748	C	T	NRAS	c.34G>A	NM_002524.5	NP_002515.1:p.(Gly12Ser)	NC_000001.10:g.115258748C>T	(Likely) pathogenic	1 lab	22b7eba187
2:48023132 MSH6 A>T	2	48023132	48023132	A	T	MSH6	c.557A>T	NM_000179.2	NP_000170.1:p.(Asp186Val)	NC_000002.11:g.48023132A>T	(Likely) benign	1 lab	22bc80d931
5:112174086 APC C>G	5	112174086	112174086	C	G	APC	c.2795C>G	NM_000038.6	NP_000029.2:p.(Ser932Ter)	NC_000005.9:g.112174086C>G	(Likely) pathogenic	1 lab	22bddc7c08
2:212566730 ERBB4 C>T	2	212566730	212566730	C	T	ERBB4	c.1451G>A	NM_005235.3	NP_005226.1:p.(Arg484Lys)	NC_000002.11:g.212566730C>T	VUS	1 lab	22bf8c89f1
2:86305123 POLR1A T>C	2	86305123	86305123	T	C	POLR1A	c.1258-19A>G	NM_015425.3	NP_056240.2:p.?	NC_000002.11:g.86305123T>C	(Likely) benign	1 lab	22c05d82e0
10:79753029 POLR3A C>T	10	79753029	79753029	C	T	POLR3A	c.2713G>A	NM_007055.4	NP_008986.2:p.(Asp905Asn)	NC_000010.10:g.79753029C>T	VUS	1 lab	22c15bf3eb
11:108170688 ATM T>C	11	108170688	108170688	T	C	ATM	c.5177+76T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108170688T>C	(Likely) benign	1 lab	22c24190aa
2:227967540 COL4A4 C>T	2	227967540	227967540	C	T	COL4A4	c.895G>A	NM_000092.4	NP_000083.3:p.(Gly299Arg)	NC_000002.11:g.227967540C>T	(Likely) pathogenic	1 lab	22c2a603e9
22:42610180 TCF20 G>A	22	42610180	42610180	G	A	TCF20	c.1132C>T	NM_005650.1	NP_005641.1:p.(Gln378Ter)	NC_000022.10:g.42610180G>A	(Likely) pathogenic	1 lab	22c2cf32e2
2:162279878 TBR1 A>T	2	162279878	162279878	A	T	TBR1	c.1191-2A>T	NM_006593.4	NP_006584.1:p.?	NC_000002.11:g.162279878A>T	(Likely) pathogenic	1 lab	22c3f222da
6:129635920 LAMA2 G>A	6	129635920	129635920	G	A	LAMA2	c.3532G>A	NM_000426.4	NP_000417.3:p.(Ala1178Thr)	NC_000006.11:g.129635920G>A	VUS	1 lab	22c54e3be1
8:38272296 FGFR1 C>T	8	38272296	38272296	C	T	FGFR1	c.1977+1G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38272296C>T	(Likely) pathogenic	1 lab	22c55a3e38
2:227873021 COL4A4 C>T	2	227873021	227873021	C	T	COL4A4	c.4523-1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227873021C>T	(Likely) pathogenic	1 lab	22c914d7a1
22:32200041 DEPDC5 G>A	22	32200041	32200041	G	A	DEPDC5	c.1082-107G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32200041G>A	(Likely) benign	1 lab	02bfbb848b
17:41245759 BRCA1 C>A	17	41245759	41245759	C	A	BRCA1	c.1789G>T	NM_007294.3	NP_009225.1:p.(Glu597Ter)	NC_000017.10:g.41245759C>A	(Likely) pathogenic	1 lab	22cb3a9aaf
22:36684816 MYH9 C>T	22	36684816	36684816	C	T	MYH9	c.4727G>A	NM_002473.4	NP_002464.1:p.(Arg1576Gln)	NC_000022.10:g.36684816C>T	(Likely) benign	1 lab	22ce2e6869
2:47707955 MSH2 C>A	2	47707955	47707955	C	A	MSH2	c.2579C>A	NM_000251.2	NP_000242.1:p.(Ser860Ter)	NC_000002.11:g.47707955C>A	(Likely) pathogenic	1 lab	22d35a9a67
11:46724716 ZNF408 CAGTGGTGACAGA>C	11	46724716	46724733	CAGTGGTGACAGA	C	ZNF408	c.581_592del	NM_024741.2	NP_079017.1:p.(Val194_Val197del)	NC_000011.9:g.46724722_46724733del	(Likely) benign	1 lab	22d45461e0
12:81062921 MISSING G>A	12	81062921	81062921	G	A	MISSING				NC_000012.11:g.81062921G>A	(Likely) pathogenic	1 lab	22d5ea31fc
16:15811165 MYH11 G>T	16	15811165	15811165	G	T	MYH11	c.5357C>A	NM_001040114.1	NP_001035203.1:p.(Thr1786Lys)	NC_000016.9:g.15811165G>T	(Likely) benign	1 lab	22d6e689a2
20:10628673 JAG1 G>A	20	10628673	10628673	G	A	JAG1	c.1655C>T	NM_000214.2	NP_000205.1:p.(Pro552Leu)	NC_000020.10:g.10628673G>A	VUS	1 lab	22d8a1b13d
12:80899839 MISSING A>AAT	12	80899839	80899840	A	AAT	MISSING				NC_000012.11:g.80899839_80899840insAT	(Likely) pathogenic	1 lab	22d8ceff52
20:10620323 JAG1 G>A	20	10620323	10620323	G	A	JAG1	c.3480C>T	NM_000214.2	NP_000205.1:p.(Asp1160=)	NC_000020.10:g.10620323G>A	(Likely) benign	1 lab	22d952c4ad
17:44115886 KANSL1 C>T	17	44115886	44115886	C	T	KANSL1				NC_000017.10:g.44115886C>T	(Likely) benign	1 lab	22da0feddb
4:151207127 LRBA C>T	4	151207127	151207127	C	T	LRBA	c.8110G>A	NM_006726.4	NP_006717.2:p.(Ala2704Thr)	NC_000004.11:g.151207127C>T	(Likely) benign	1 lab	22db4ff974
8:145016509 PLEC TGAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA>T	8	145016509	145016572	TGAGAGCGATGGTGGCCCCTTCTGTGCCACCGGCCACGCCACTGCACCCACCTACGCAGCACA	T	PLEC	c.194-3711_194-3650del	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145016511_145016572del	(Likely) benign	1 lab	e2ca533646
2:179644034 TTN T>C	2	179644034	179644034	T	C	TTN	c.3885A>G	NM_001267550.2	NP_001254479.2:p.(Ser1295=)	NC_000002.11:g.179644034T>C	VUS	1 lab	22de7e8a0c
15:85787931 GOLGA6L3P G>A	15	85787931	85787931	G	A	GOLGA6L3P	n.831G>A	NR_171665.1		NC_000015.9:g.85787931G>A	VUS	1 lab	e318d17efc
3:48608145 COL7A1 T>C	3	48608145	48608145	T	C	COL7A1	c.7273-2A>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48608145T>C	(Likely) pathogenic	1 lab	22df12d663
14:23901031 MYH7 T>C	14	23901031	23901031	T	C	MYH7	c.578A>G	NM_000257.4	NP_000248.2:p.(Gln193Arg)	NC_000014.8:g.23901031T>C	(Likely) pathogenic	1 lab	22e20a1b6a
6:33135040 COL11A2 C>T	6	33135040	33135040	C	T	COL11A2	c.4176+1G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33135040C>T	(Likely) pathogenic	1 lab	22e37be417
1:17350451 SDHB A>G	1	17350451	17350451	A	G	SDHB	c.642+17T>C	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17350451A>G	(Likely) benign	1 lab	22e4496b38
2:32352091 SPAST G>A	2	32352091	32352091	G	A	SPAST	c.1173G>A	NM_014946.3	NP_055761.2:p.(Leu391=)	NC_000002.11:g.32352091G>A	(Likely) pathogenic	1 lab	22ea11db94
20:31022302 ASXL1 G>A	20	31022302	31022302	G	A	ASXL1	c.1787G>A	NM_015338.6	NP_056153.2:p.(Arg596Gln)	NC_000020.10:g.31022302G>A	VUS	1 lab	22ee118c67
7:107342483 SLC26A4 G>A	7	107342483	107342483	G	A	SLC26A4	c.2015G>A	NM_000441.1	NP_000432.1:p.(Gly672Glu)	NC_000007.13:g.107342483G>A	(Likely) pathogenic	1 lab	22f0021381
2:68415801 PPP3R1 C>G	2	68415801	68415801	C	G	PPP3R1	c.65G>C	NM_000945.3	NP_000936.1:p.(Arg22Thr)	NC_000002.11:g.68415801C>G	VUS	1 lab	22f1b1f8cc
12:65564699 LEMD3 C>A	12	65564699	65564699	C	A	LEMD3	c.1323C>A	NM_014319.5	NP_055134.2:p.(Tyr441Ter)	NC_000012.11:g.65564699C>A	(Likely) pathogenic	1 lab	22f24da82f
5:112154771 APC C>T	5	112154771	112154771	C	T	APC	c.1042C>T	NM_000038.6	NP_000029.2:p.(Arg348Ter)	NC_000005.9:g.112154771C>T	VUS	1 lab	22f551bd5e
13:110815846 COL4A1 C>T	13	110815846	110815846	C	T	COL4A1	c.4213G>A	NM_001845.6	NP_001836.3:p.(Gly1405Ser)	NC_000013.10:g.110815846C>T	VUS	1 lab	22f6c0ab0d
20:57429037 GNAS C>T	20	57429037	57429037	C	T	GNAS	c.530C>T	NM_001077490.1	NP_001070958.1:p.(Pro177Leu)	NC_000020.10:g.57429037C>T	VUS	1 lab	e3577855da
9:130427523 STXBP1 C>G	9	130427523	130427523	C	G	STXBP1	c.579-3C>G	NM_003165.3	NP_003156.1:p.?	NC_000009.11:g.130427523C>G	(Likely) pathogenic	1 lab	2300bbee40
2:46707595 TMEM247 G>C	2	46707595	46707595	G	C	TMEM247	c.169G>C	NM_001145051.2	NP_001138523.1:p.(Glu57Gln)	NC_000002.11:g.46707595G>C	(Likely) benign	1 lab	e3833e7075
8:65528673 CYP7B1 T>C	8	65528673	65528673	T	C	CYP7B1	c.425A>G	NM_004820.5	NP_004811.1:p.(Tyr142Cys)	NC_000008.10:g.65528673T>C	VUS	1 lab	230803478b
13:32972599 BRCA2 C>T	13	32972599	32972599	C	T	BRCA2	c.9949C>T	NM_000059.4	NP_000050.3:p.(Leu3317=)	NC_000013.10:g.32972599C>T	(Likely) benign	1 lab	230992f6b0
10:13325695 PHYH G>A	10	13325695	13325695	G	A	PHYH	c.823C>T	NM_006214.3	NP_006205.1:p.(Arg275Trp)	NC_000010.10:g.13325695G>A	(Likely) pathogenic	1 lab	230aa8d1ad
17:79479298 ACTG1 C>A	17	79479298	79479298	C	A	ACTG1	c.83G>T	NM_001614.5	NP_001605.1:p.(Arg28Leu)	NC_000017.10:g.79479298C>A	(Likely) pathogenic	1 lab	230bd9ba01
6:31914935 CFB A>G	6	31914935	31914935	A	G	CFB	c.450A>G	NM_001710.5	NP_001701.2:p.(Arg150=)	NC_000006.11:g.31914935A>G	(Likely) benign	1 lab	230c0a9604
2:179642720 TTN A>G	2	179642720	179642720	A	G	TTN	c.4209-18T>C	NM_133379.4	NP_596870.2:p.?	NC_000002.11:g.179642720A>G	(Likely) benign	1 lab	230c7523c0
6:112454593 LAMA4 T>C	6	112454593	112454593	T	C	LAMA4	c.3654A>G	NM_001105206.2	NP_001098676.2:p.(Thr1218=)	NC_000006.11:g.112454593T>C	(Likely) benign	1 lab	230cc7380f
19:35524624 SCN1B C>T	19	35524624	35524624	C	T	SCN1B	c.429C>T	NM_001037.4	NP_001028.1:p.(His143=)	NC_000019.9:g.35524624C>T	(Likely) benign	1 lab	230dd0bca4
12:50500588 GPD1 G>A	12	50500588	50500588	G	A	GPD1	c.500G>A	NM_005276.3	NP_005267.2:p.(Gly167Asp)	NC_000012.11:g.50500588G>A	VUS	1 lab	230e2b2fc9
19:6710683 C3 C>A	19	6710683	6710683	C	A	C3	c.1653G>T	NM_000064.3	NP_000055.2:p.(Val551=)	NC_000019.9:g.6710683C>A	(Likely) benign	1 lab	230e86dfdc
13:23853541 SGCG C>T	13	23853541	23853541	C	T	SGCG	c.429C>T	NM_000231.2	NP_000222.1:p.(Asn143=)	NC_000013.10:g.23853541C>T	(Likely) benign	1 lab	2310853d6d
11:61719325 BEST1 C>A	11	61719325	61719325	C	A	BEST1	c.47C>A	NM_004183.4	NP_004174.1:p.(Ser16Tyr)	NC_000011.9:g.61719325C>A	(Likely) pathogenic	1 lab	231087eca9
X:68060494 EFNB1 C>CT	X	68060494	68060495	C	CT	EFNB1	c.1039dup	NM_004429.4	NP_004420.1:p.(Ter347LeuextTer39)	NC_000023.10:g.68060495dup	(Likely) pathogenic	1 lab	2313857ccc
20:62326579 RTEL1 G>T	20	62326579	62326579	G	T	RTEL1	c.3571+5G>T	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62326579G>T	(Likely) benign	1 lab	2314bca9b1
1:33478957 AK2 G>T	1	33478957	33478957	G	T	AK2	c.545C>A	NM_001625.3	NP_001616.1:p.(Ala182Asp)	NC_000001.10:g.33478957G>T	(Likely) pathogenic	1 lab	23195b6486
7:156803042 MNX1 C>T	7	156803042	156803042	C	T	MNX1	c.3G>A	NM_005515.4	NP_005506.3:p.(Met1?)	NC_000007.13:g.156803042C>T	(Likely) pathogenic	1 lab	231e220c1c
20:52790212 CYP24A1 T>C	20	52790212	52790212	T	C	CYP24A1	c.-94A>G	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52790212T>C	(Likely) benign	1 lab	2321a99767
6:65149223 EYS AT>A	6	65149223	65149224	AT	A	EYS	c.5666del	NM_001142800.1	NP_001136272.1:p.(Tyr1889LeufsTer6)	NC_000006.11:g.65149224del	(Likely) pathogenic	1 lab	23223106bc
3:52486141 TNNC1 G>C	3	52486141	52486141	G	C	TNNC1	c.183C>G	NM_003280.3	NP_003271.1:p.(Ile61Met)	NC_000003.11:g.52486141G>C	VUS	1 lab	2328f474b3
X:153648354 TAFAZZIN A>G	X	153648354	153648354	A	G	TAFAZZIN	c.584-17A>G	NM_000116.4	NP_000107.1:p.?	NC_000023.10:g.153648354A>G	(Likely) benign	1 lab	232b45af7b
5:148407169 SH3TC2 C>T	5	148407169	148407169	C	T	SH3TC2	c.2126G>A	NM_024577.3	NP_078853.2:p.(Trp709Ter)	NC_000005.9:g.148407169C>T	(Likely) pathogenic	1 lab	23318b55f0
22:32217574 DEPDC5 C>CA	22	32217574	32217575	C	CA	DEPDC5				NC_000022.10:g.32217575dup	VUS	1 lab	2335f5ef61
20:5986735 CRLS1 C>A	20	5986735	5986735	C	A	CRLS1	c.-50C>A	NM_001323562.1	NP_001310491.1:p.?	NC_000020.10:g.5986735C>A	VUS	1 lab	e9710d5c14
7:73442538 ELN G>A	7	73442538	73442538	G	A	ELN	c.21G>A	NM_000501.3	NP_000492.2:p.(Ala7=)	NC_000007.13:g.73442538G>A	(Likely) benign	1 lab	2339c88a38
20:57428754 GNAS G>A	20	57428754	57428754	G	A	GNAS	c.247G>A	NM_001077490.1	NP_001070958.1:p.(Val83Met)	NC_000020.10:g.57428754G>A	(Likely) benign	1 lab	e3db74b418
11:108093815 ATM A>C	11	108093815	108093815	A	C	ATM	c.-129A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108093815A>C	(Likely) benign	1 lab	233d232d73
3:120976051 STXBP5L C>G	3	120976051	120976051	C	G	STXBP5L	c.1703C>G	NM_014980.2	NP_055795.1:p.(Thr568Ser)	NC_000003.11:g.120976051C>G	(Likely) benign	1 lab	234027f85d
1:223284069 TLR5 G>A	1	223284069	223284069	G	A	TLR5	c.2305C>T	NM_003268.6	NP_003259.2:p.(Leu769Phe)	NC_000001.10:g.223284069G>A	(Likely) benign	1 lab	02c8bf87bb
11:1466648 BRSK2 C>T	11	1466648	1466648	C	T	BRSK2	c.937C>T	NM_001256627.2	NP_001243556.1:p.(Arg313Ter)	NC_000011.9:g.1466648C>T	(Likely) pathogenic	1 lab	2341e8f372
5:43650667 NNT C>T	5	43650667	43650667	C	T	NNT	c.1695C>T	NM_012343.3	NP_036475.3:p.(Phe565=)	NC_000005.9:g.43650667C>T	(Likely) benign	1 lab	23429210cf
18:3447744 TGIF1 T>A	18	3447744	3447744	T	A	TGIF1	c.-44-8608T>A	NM_001278686.1	NP_001265615.1:p.?	NC_000018.9:g.3447744T>A	(Likely) benign	1 lab	e3f755a466
12:133248898 POLE G>T	12	133248898	133248898	G	T	POLE	c.1697C>A	NM_006231.3	NP_006222.2:p.(Ala566Asp)	NC_000012.11:g.133248898G>T	VUS	1 lab	02cb073577
17:7788372 CHD3 TGCCCCCGCC>T	17	7788372	7788384	TGCCCCCGCC	T	CHD3	c.252_260del	NM_001005271.2	NP_001005271.2:p.(Pro90_Pro92del)	NC_000017.10:g.7788376_7788384del	VUS	1 lab	e421eae6ba
19:11533276 ODAD3 C>A	19	11533276	11533276	C	A	ODAD3	c.1297G>T	NM_145045.5	NP_659482.3:p.(Glu433Ter)	NC_000019.9:g.11533276C>A	(Likely) pathogenic	1 lab	23493503df
11:121000636 TECTA A>G	11	121000636	121000636	A	G	TECTA	c.2657A>G	NM_005422.2	NP_005413.2:p.(Asn886Ser)	NC_000011.9:g.121000636A>G	VUS	1 lab	234c2df275
22:40521871 TNRC6B G>T	22	40521871	40521871	G	T	TNRC6B	c.45+5G>T	NM_001024843.1	NP_001020014.1:p.?	NC_000022.10:g.40521871G>T	VUS	1 lab	e43b302d10
6:51751931 PKHD1 C>G	6	51751931	51751931	C	G	PKHD1	c.7109G>C	NM_138694.3	NP_619639.3:p.(Arg2370Thr)	NC_000006.11:g.51751931C>G	VUS	1 lab	234cbb546d
2:179466067 TTN C>T	2	179466067	179466067	C	T	TTN	c.47953G>A	NM_133378.4	NP_596869.4:p.(Val15985Met)	NC_000002.11:g.179466067C>T	VUS	1 lab	2353754c52
5:169535204 FOXI1 C>T	5	169535204	169535204	C	T	FOXI1	c.726C>T	NM_012188.4	NP_036320.2:p.(Ser242=)	NC_000005.9:g.169535204C>T	(Likely) benign	1 lab	23552b4493
12:6697488 CHD4 G>C	12	6697488	6697488	G	C	CHD4	c.3441C>G	NM_001273.3	NP_001264.2:p.(Asp1147Glu)	NC_000012.11:g.6697488G>C	(Likely) pathogenic	1 lab	2355c4e743
11:47352862 MADD G>A	11	47352862	47352862	G	A	MADD				NC_000011.9:g.47352862G>A	(Likely) benign	1 lab	23569be69d
2:202074293 CASP10 C>G	2	202074293	202074293	C	G	CASP10	c.1415+8C>G	NM_032977.3	NP_116759.2:p.?	NC_000002.11:g.202074293C>G	(Likely) benign	1 lab	3980d590e7
7:73474307 ELN C>T	7	73474307	73474307	C	T	ELN	c.1506C>T	NM_000501.3	NP_000492.2:p.(Gly502=)	NC_000007.13:g.73474307C>T	(Likely) benign	1 lab	235a495624
1:245027411 HNRNPU CG>C	1	245027411	245027413	CG	C	HNRNPU				NC_000001.10:g.245027413del	(Likely) pathogenic	1 lab	dead5e9dc7
1:103343637 COL11A1 C>T	1	103343637	103343637	C	T	COL11A1	c.5359G>A	NM_001854.3	NP_001845.3:p.(Asp1787Asn)	NC_000001.10:g.103343637C>T	VUS	1 lab	235cabd216
10:79814610 RPS24 G>A	10	79814610	79814610	G	A	RPS24	c.712G>A	NM_001142285.1	NP_001135757.1:p.(Gly238Ser)	NC_000010.10:g.79814610G>A	(Likely) benign	1 lab	e49042e9c0
2:179438589 TTN T>A	2	179438589	179438589	T	A	TTN	c.72270A>T	NM_001267550.2	NP_001254479.2:p.(Lys24090Asn)	NC_000002.11:g.179438589T>A	VUS	1 lab	23662a7c2d
16:89355043 ANKRD11 A>AC	16	89355043	89355044	A	AC	ANKRD11	c.636_637insG	NM_001256182.1	NP_001243111.1:p.(Tyr213ValfsTer22)	NC_000016.9:g.89355043_89355044insC	(Likely) pathogenic	1 lab	2366d691ce
4:3501967 DOK7 T>TC	4	3501967	3501973	T	TC	DOK7	c.1541-5dup	NM_001301071.1	NP_001288000.1:p.?	NC_000004.11:g.3501973dup	(Likely) benign	1 lab	e4ef864e97
X:62898235 ARHGEF9 G>T	X	62898235	62898235	G	T	ARHGEF9	c.779C>A	NM_015185.2	NP_056000.1:p.(Thr260Asn)	NC_000023.10:g.62898235G>T	(Likely) pathogenic	1 lab	236ba8e16a
2:223168800 CCDC140 G>A	2	223168800	223168800	G	A	CCDC140	n.563G>A	NR_161172.1		NC_000002.11:g.223168800G>A	VUS	1 lab	e562440ed1
2:131356197 CFC1 G>C	2	131356197	131356197	G	C	CFC1	c.247+18C>G	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131356197G>C	(Likely) benign	1 lab	236de17360
2:217297574 SMARCAL1 C>T	2	217297574	217297574	C	T	SMARCAL1	c.1468C>T	NM_014140.3	NP_054859.2:p.(Arg490Cys)	NC_000002.11:g.217297574C>T	VUS	1 lab	236e78e605
11:76916523 MYO7A G>C	11	76916523	76916523	G	C	MYO7A	c.5497G>C	NM_000260.3	NP_000251.3:p.(Gly1833Arg)	NC_000011.9:g.76916523G>C	VUS	1 lab	2371519118
20:400185 RBCK1 G>C	20	400185	400185	G	C	RBCK1	c.583-17G>C	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.400185G>C	(Likely) benign	1 lab	02db7def50
11:64367854 SLC22A12 G>A	11	64367854	64367854	G	A	SLC22A12	c.1301G>A	NM_144585.4	NP_653186.2:p.(Arg434His)	NC_000011.9:g.64367854G>A	(Likely) benign	1 lab	02dd50b1d0
19:2427757 TIMM13 G>A	19	2427757	2427757	G	A	TIMM13	c.-226C>T	NM_012458.2	NP_036590.1:p.?	NC_000019.9:g.2427757G>A	VUS	1 lab	e617a5c484
19:1207090 STK11 T>TA	19	1207090	1207091	T	TA	STK11	c.179dup	NM_000455.5	NP_000446.1:p.(Tyr60Ter)	NC_000019.9:g.1207091dup	(Likely) pathogenic	1 lab	23787cdb64
11:64519426 PYGM TGAG>T	11	64519426	64519432	TGAG	T	PYGM	c.1735_1737del	NM_005609.2	NP_005600.1:p.(Leu579del)	NC_000011.9:g.64519430_64519432del	(Likely) pathogenic	1 lab	23794c3f5b
17:41226388 BRCA1 G>A	17	41226388	41226388	G	A	BRCA1	c.4635C>T	NM_007294.4	NP_009225.1:p.(His1545=)	NC_000017.10:g.41226388G>A	(Likely) benign	1 lab	237af05fa8
3:37053120 MLH1 T>C	3	37053120	37053120	T	C	MLH1				NC_000003.11:g.37053120T>C	(Likely) benign	1 lab	237b293bd1
4:186456542 PDLIM3 C>A	4	186456542	186456542	C	A	PDLIM3	c.47G>T	NM_014476.6	NP_055291.2:p.(Arg16Met)	NC_000004.11:g.186456542C>A	VUS	1 lab	237b539c6b
8:38282203 FGFR1 G>A	8	38282203	38282203	G	A	FGFR1	c.760C>T	NM_023110.2	NP_075598.2:p.(Arg254Trp)	NC_000008.10:g.38282203G>A	(Likely) pathogenic	1 lab	237ba31ca7
X:132437105 GPC4 A>T	X	132437105	132437105	A	T	GPC4	c.1469-8T>A	NM_001448.2	NP_001439.2:p.?	NC_000023.10:g.132437105A>T	VUS	1 lab	237cd699ec
5:39364474 C9 A>G	5	39364474	39364474	A	G	C9	c.77+16T>C	NM_001737.4	NP_001728.1:p.?	NC_000005.9:g.39364474A>G	(Likely) benign	1 lab	237fb3e4cc
12:48376911 COL2A1 C>T	12	48376911	48376911	C	T	COL2A1	c.2059G>A	NM_001844.4	NP_001835.3:p.(Gly687Ser)	NC_000012.11:g.48376911C>T	(Likely) pathogenic	1 lab	239e82115c
14:23891539 MYH7 TAG>T	14	23891539	23891546	TAG	T	MYH7	c.3100-7_3100-6del	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23891545_23891546del	(Likely) benign	1 lab	238450d070
1:160106516 ATP1A2 C>T	1	160106516	160106516	C	T	ATP1A2				NC_000001.10:g.160106516C>T	(Likely) benign	1 lab	02ddc22185
4:1805388 FGFR3 G>A	4	1805388	1805388	G	A	FGFR3	c.931-31G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1805388G>A	(Likely) benign	1 lab	23871a08ee
4:140291484 NAA15 A>G	4	140291484	140291484	A	G	NAA15	c.1873A>G	NM_057175.5	NP_476516.1:p.(Lys625Glu)	NC_000004.11:g.140291484A>G	(Likely) pathogenic	1 lab	2388f939be
3:38781078 SCN10A G>A	3	38781078	38781078	G	A	SCN10A	c.2208C>T	NM_006514.4	NP_006505.4:p.(Ile736=)	NC_000003.11:g.38781078G>A	(Likely) benign	1 lab	238a91b04f
12:116408461 MED13L G>A	12	116408461	116408461	G	A	MED13L	c.6005C>T	NM_015335.4	NP_056150.1:p.(Ser2002Leu)	NC_000012.11:g.116408461G>A	(Likely) pathogenic	1 lab	238b9bc060
19:38959722 RYR1 G>C	19	38959722	38959722	G	C	RYR1	c.3498G>C	NM_000540.2	NP_000531.2:p.(Glu1166Asp)	NC_000019.9:g.38959722G>C	VUS	1 lab	238cac0a5c
1:228559812 OBSCN C>T	1	228559812	228559812	C	T	OBSCN	c.24204C>T	NM_001271223.2	NP_001258152.2:p.(Pro8068=)	NC_000001.10:g.228559812C>T	(Likely) benign	1 lab	239073a559
2:21258588 APOB A>G	2	21258588	21258588	A	G	APOB	c.694-8T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21258588A>G	(Likely) benign	1 lab	09f32afc2b
9:131010965 DNM1 T>C	9	131010965	131010965	T	C	DNM1	c.2009T>C	NM_001288739.1	NP_001275668.1:p.(Met670Thr)	NC_000009.11:g.131010965T>C	VUS	1 lab	23945a7622
11:129817169 PRDM10 C>G	11	129817169	129817169	C	G	PRDM10	c.391G>C	NM_199437.2	NP_955469.1:p.(Glu131Gln)	NC_000011.9:g.129817169C>G	VUS	1 lab	239593450b
1:17085999 MST1L CCCCG>C	1	17085999	17086006	CCCCG	C	MST1L	c.894_897del	NM_001271733.1	NP_001258662.1:p.(Gly300ArgfsTer89)	NC_000001.10:g.17086003_17086006del	VUS	1 lab	e6c31a815f
9:36276952 GNE G>C	9	36276952	36276952	G	C	GNE	c.-11C>G	NM_001128227.2	NP_001121699.1:p.?	NC_000009.11:g.36276952G>C	VUS	1 lab	e6ca024b5e
12:112888212 PTPN11 G>T	12	112888212	112888212	G	T	PTPN11	c.228G>T	NM_002834.5	NP_002825.3:p.(Glu76Asp)	NC_000012.11:g.112888212G>T	(Likely) pathogenic	1 lab	239a79888b
7:140477811 BRAF T>G	7	140477811	140477811	T	G	BRAF	c.1497A>C	NM_004333.6	NP_004324.2:p.(Lys499Asn)	NC_000007.13:g.140477811T>G	(Likely) pathogenic	1 lab	239dc3acfd
12:49416438 KMT2D C>T	12	49416438	49416438	C	T	KMT2D	c.16273G>A	NM_003482.3	NP_003473.3:p.(Glu5425Lys)	NC_000012.11:g.49416438C>T	(Likely) pathogenic	1 lab	23a1c9eabc
2:37096797 MISSING G>A	2	37096797	37096797	G	A	MISSING				NC_000002.11:g.37096797G>A	VUS	1 lab	23a6a7c4f4
20:489117 CSNK2A1 C>T	20	489117	489117	C	T	CSNK2A1	c.79G>A	NM_177559.2	NP_808227.1:p.(Glu27Lys)	NC_000020.10:g.489117C>T	VUS	1 lab	23a83e7814
11:61730247 BEST1 CT>C	11	61730247	61730248	CT	C	BEST1	c.1622del	NM_004183.3	NP_004174.1:p.(Leu541ArgfsTer68)	NC_000011.9:g.61730248del	(Likely) pathogenic	1 lab	23ab0cc417
1:228548196 OBSCN C>T	1	228548196	228548196	C	T	OBSCN	c.21533-2081C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228548196C>T	(Likely) benign	1 lab	23af38b5e6
5:149755084 TCOF1 T>C	5	149755084	149755084	T	C	TCOF1	c.1671T>C	NM_001135243.1	NP_001128715.1:p.(Asp557=)	NC_000005.9:g.149755084T>C	(Likely) benign	1 lab	23b0519849
6:56483050 DST G>A	6	56483050	56483050	G	A	DST	c.5782C>T	NM_001723.7	NP_001714.1:p.(Arg1928Trp)	NC_000006.11:g.56483050G>A	VUS	1 lab	0a1cbc46a1
14:102481670 DYNC1H1 G>T	14	102481670	102481670	G	T	DYNC1H1	c.7242+1G>T	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102481670G>T	(Likely) benign	1 lab	23b1f6ca16
12:6128596 VWF C>T	12	6128596	6128596	C	T	VWF	c.3988G>A	NM_000552.3	NP_000543.2:p.(Gly1330Arg)	NC_000012.11:g.6128596C>T	VUS	1 lab	23d03fc3cd
11:64514278 PYGM G>A	11	64514278	64514278	G	A	PYGM	c.2382C>T	NM_005609.4	NP_005600.1:p.(Asn794=)	NC_000011.9:g.64514278G>A	(Likely) benign	1 lab	02e2043811
17:79477813 ACTG1 G>C	17	79477813	79477813	G	C	ACTG1	c.1031C>G	NM_001614.5	NP_001605.1:p.(Ser344Cys)	NC_000017.10:g.79477813G>C	(Likely) pathogenic	1 lab	23b7ef6bca
10:89623870 PTEN C>T	10	89623870	89623870	C	T	PTEN	c.-357C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623870C>T	(Likely) benign	1 lab	23b9f6baa0
X:100667418 HNRNPH2 CA>C	X	100667418	100667419	CA	C	HNRNPH2	c.443del	NM_019597.5	NP_062543.1:p.(Gln148ArgfsTer17)	NC_000023.10:g.100667419del	(Likely) pathogenic	1 lab	23bad504d4
19:50909765 POLD1 C>T	19	50909765	50909765	C	T	POLD1				NC_000019.9:g.50909765C>T	(Likely) benign	1 lab	23bd42725d
7:151960114 KMT2C C>A	7	151960114	151960114	C	A	KMT2C	c.1286G>T	NM_170606.3	NP_733751.2:p.(Gly429Val)	NC_000007.13:g.151960114C>A	VUS	1 lab	23bd742199
X:85211384 CHM C>T	X	85211384	85211384	C	T	CHM	c.941-1G>A	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85211384C>T	(Likely) pathogenic	1 lab	23c3a85465
14:23888535 MYH7 C>G	14	23888535	23888535	C	G	MYH7	c.3854-31G>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23888535C>G	(Likely) benign	1 lab	23c3d2d3cf
12:42860027 PRICKLE1 C>T	12	42860027	42860027	C	T	PRICKLE1	c.744G>A	NM_153026.3	NP_694571.2:p.(Ala248=)	NC_000012.11:g.42860027C>T	(Likely) benign	1 lab	02e4093bf3
22:32302311 DEPDC5 A>G	22	32302311	32302311	A	G	DEPDC5	c.4640A>G	NM_001242896.1	NP_001229825.1:p.(Asn1547Ser)	NC_000022.10:g.32302311A>G	VUS	1 lab	23c5425b3a
1:2234718 SKI C>T	1	2234718	2234718	C	T	SKI	c.1096-6C>T	NM_003036.3	NP_003027.1:p.?	NC_000001.10:g.2234718C>T	(Likely) benign	1 lab	23c7a15110
11:31824312 PAX6 CT>C	11	31824312	31824313	CT	C	PAX6	c.80del	NM_000280.4	NP_000271.1:p.(Gln27ArgfsTer4)	NC_000011.9:g.31824313del	(Likely) pathogenic	1 lab	23c85b092b
3:179304421 ACTL6A G>C	3	179304421	179304421	G	C	ACTL6A	c.1209+1G>C	NM_004301.3	NP_004292.1:p.?	NC_000003.11:g.179304421G>C	(Likely) pathogenic	1 lab	23caf25ed6
11:65635525 EFEMP2 C>T	11	65635525	65635525	C	T	EFEMP2	c.977G>A	NM_016938.5	NP_058634.4:p.(Arg326His)	NC_000011.9:g.65635525C>T	(Likely) benign	1 lab	02e616c0c3
X:37061178 FTHL18P C>T	X	37061178	37061178	C	T	FTHL18P	c.584G>A	NM_001271682.1	NP_001258611.1:p.(Arg195His)	NC_000023.10:g.37061178C>T	VUS	1 lab	e73ea94c21
12:33030996 PKP2 G>A	12	33030996	33030996	G	A	PKP2	c.818C>T	NM_004572.3	NP_004563.2:p.(Pro273Leu)	NC_000012.11:g.33030996G>A	(Likely) benign	1 lab	23d0e3d3da
2:26502152 HADHB C>T	2	26502152	26502152	C	T	HADHB	c.780C>T	NM_000183.2	NP_000174.1:p.(Leu260=)	NC_000002.11:g.26502152C>T	(Likely) benign	1 lab	23d4799097
12:111358404 MYL2 C>A	12	111358404	111358404	C	A	MYL2	c.-71G>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111358404C>A	VUS	1 lab	23d5621e87
6:7583104 DSP A>G	6	7583104	7583104	A	G	DSP	c.5609A>G	NM_004415.3	NP_004406.2:p.(Gln1870Arg)	NC_000006.11:g.7583104A>G	VUS	1 lab	23d8c5ec09
1:145075775 PDE4DIP G>A	1	145075775	145075775	G	A	PDE4DIP	c.88C>T	NM_001350521.1	NP_001337450.1:p.(Pro30Ser)	NC_000001.10:g.145075775G>A	(Likely) benign	1 lab	e828d71fb3
17:73328800 GRB2 T>C	17	73328800	73328800	T	C	GRB2	c.157A>G	NM_002086.5	NP_002077.1:p.(Ile53Val)	NC_000017.10:g.73328800T>C	VUS	1 lab	23db3aa48b
1:13366433 PRAMEF5 A>G	1	13366433	13366433	A	G	PRAMEF5	c.869+8A>G	NM_001013407.1	NP_001013425.1:p.?	NC_000001.10:g.13366433A>G	(Likely) benign	1 lab	e900fbd85e
2:168115730 XIRP2 C>T	2	168115730	168115730	C	T	XIRP2	c.*1403C>T	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168115730C>T	(Likely) benign	1 lab	23dd80e28a
18:48591895 SMAD4 A>C	18	48591895	48591895	A	C	SMAD4	c.1058A>C	NM_005359.5	NP_005350.1:p.(Tyr353Ser)	NC_000018.9:g.48591895A>C	(Likely) pathogenic	1 lab	23e0087a71
X:10188700 CLCN4 G>A	X	10188700	10188700	G	A	CLCN4	c.1976-1G>A	NM_001830.4	NP_001821.2:p.?	NC_000023.10:g.10188700G>A	(Likely) pathogenic	1 lab	23e243a304
1:196887467 CFHR4 GA>G	1	196887467	196887469	GA	G	CFHR4	c.1670del	NM_001201550.3	NP_001188479.1:p.(Asn557IlefsTer15)	NC_000001.10:g.196887469del	(Likely) pathogenic	1 lab	23e2ccc75a
1:244218530 ZBTB18 C>T	1	244218530	244218530	C	T	ZBTB18	c.1454C>T	NM_205768.2	NP_991331.1:p.(Thr485Met)	NC_000001.10:g.244218530C>T	(Likely) pathogenic	1 lab	23e354730e
16:88713189 CYBA G>T	16	88713189	88713189	G	T	CYBA				NC_000016.9:g.88713189G>T	(Likely) pathogenic	1 lab	23e85c5a2f
9:21971148 CDKN2A G>A	9	21971148	21971148	G	A	CDKN2A	c.253C>T	NM_058195.3	NP_478102.2:p.(Gln85Ter)	NC_000009.11:g.21971148G>A	VUS	1 lab	23e8a315d6
X:107160816 MID2 GA>G	X	107160816	107160817	GA	G	MID2	c.1283del	NM_012216.4	NP_036348.2:p.(Glu428GlyfsTer34)	NC_000023.10:g.107160817del	(Likely) pathogenic	1 lab	23eb98facd
9:129455806 LMX1B C>T	9	129455806	129455806	C	T	LMX1B	c.745C>T	NM_002316.4	NP_002307.2:p.(Arg249Ter)	NC_000009.11:g.129455806C>T	(Likely) pathogenic	1 lab	23ec312ada
16:21739646 OTOA AT>A	16	21739646	21739647	AT	A	OTOA	c.2102del	NM_144672.3	NP_653273.3:p.(Ile701ThrfsTer27)	NC_000016.9:g.21739647del	(Likely) pathogenic	1 lab	23ee084300
10:103827491 HPS6 C>G	10	103827491	103827491	C	G	HPS6	c.2260C>G	NM_024747.6	NP_079023.2:p.(Leu754Val)	NC_000010.10:g.103827491C>G	VUS	1 lab	23f06301f1
21:38877731 DYRK1A A>G	21	38877731	38877731	A	G	DYRK1A	c.1385A>G	NM_001396.3	NP_001387.2:p.(Tyr462Cys)	NC_000021.8:g.38877731A>G	VUS	1 lab	23f13b382c
6:66205008 EYS G>A	6	66205008	66205008	G	A	EYS	c.296C>T	NM_001142800.1	NP_001136272.1:p.(Pro99Leu)	NC_000006.11:g.66205008G>A	VUS	1 lab	23f5f3c3fa
13:32914310 BRCA2 G>T	13	32914310	32914310	G	T	BRCA2	c.5818G>T	NM_000059.3	NP_000050.2:p.(Glu1940Ter)	NC_000013.10:g.32914310G>T	(Likely) pathogenic	1 lab	23f6a99c77
7:50537769 DDC A>G	7	50537769	50537769	A	G	DDC	c.1140+2T>C	NM_000790.3	NP_000781.1:p.?	NC_000007.13:g.50537769A>G	(Likely) pathogenic	1 lab	23f79ea446
21:36259172 RUNX1 G>T	21	36259172	36259172	G	T	RUNX1	c.319C>A	NM_001754.4	NP_001745.2:p.(Arg107Ser)	NC_000021.8:g.36259172G>T	(Likely) pathogenic	1 lab	23fe0b6782
11:14913567 CYP2R1 G>A	11	14913567	14913567	G	A	CYP2R1	c.185C>T	NM_024514.4	NP_078790.2:p.(Pro62Leu)	NC_000011.9:g.14913567G>A	VUS	1 lab	2403983597
12:6094734 VWF G>A	12	6094734	6094734	G	A	VWF	c.6896C>T	NM_000552.3	NP_000543.2:p.(Ala2299Val)	NC_000012.11:g.6094734G>A	(Likely) benign	1 lab	240480f7c8
5:110081995 SLC25A46 A>G	5	110081995	110081995	A	G	SLC25A46	c.410A>G	NM_138773.4	NP_620128.1:p.(His137Arg)	NC_000005.9:g.110081995A>G	VUS	1 lab	2406d92361
14:100702980 YY1-DT C>T	14	100702980	100702980	C	T	YY1-DT	n.151+1828G>A	NR_189150.1		NC_000014.8:g.100702980C>T	VUS	1 lab	e98c6ce891
6:32006896 CYP21A2 G>A	6	32006896	32006896	G	A	CYP21A2				NC_000006.11:g.32006896G>A	(Likely) benign	1 lab	24084c2c81
16:23640635 PALB2 T>C	16	23640635	23640635	T	C	PALB2	c.2515-39A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640635T>C	(Likely) benign	1 lab	2408d868be
18:32585522 MAPRE2 G>C	18	32585522	32585522	G	C	MAPRE2	c.-8+5G>C	NM_001143826.2	NP_001137298.1:p.?	NC_000018.9:g.32585522G>C	(Likely) benign	1 lab	e9a29ebee1
20:740919 SLC52A3 G>T	20	740919	740919	G	T	SLC52A3	c.*751C>A	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.740919G>T	(Likely) benign	1 lab	02eea3e21f
2:179458143 TTN C>T	2	179458143	179458143	C	T	TTN	c.58792G>A	NM_001267550.2	NP_001254479.2:p.(Val19598Ile)	NC_000002.11:g.179458143C>T	(Likely) benign	1 lab	240cd7238c
8:10468876 RP1L1 C>A	8	10468876	10468876	C	A	RP1L1				NC_000008.10:g.10468876C>A	VUS	1 lab	240ec673d2
8:10466703 RP1L1 G>A	8	10466703	10466703	G	A	RP1L1	c.4905C>T	NM_178857.5	NP_849188.4:p.(Asp1635=)	NC_000008.10:g.10466703G>A	(Likely) benign	1 lab	240f41cad5
6:30997205 MUC22 T>C	6	30997205	30997205	T	C	MUC22	c.3997T>C	NM_001198815.1	NP_001185744.1:p.(Leu1333=)	NC_000006.11:g.30997205T>C	(Likely) benign	1 lab	02ef7fc2a9
7:94294991 PEG10 G>A	7	94294991	94294991	G	A	PEG10	c.*1145G>A	NM_001040152.1	NP_001035242.1:p.?	NC_000007.13:g.94294991G>A	VUS	1 lab	ed04551e79
2:228155481 COL4A3 G>T	2	228155481	228155481	G	T	COL4A3	c.3089G>T	NM_000091.4	NP_000082.2:p.(Gly1030Val)	NC_000002.11:g.228155481G>T	(Likely) pathogenic	1 lab	2411ae6322
2:179441852 TTN T>C	2	179441852	179441852	T	C	TTN	c.69210A>G	NM_001267550.1	NP_001254479.1:p.(Ser23070=)	NC_000002.11:g.179441852T>C	(Likely) benign	1 lab	02f3075883
2:228552932 SLC19A3 T>C	2	228552932	228552932	T	C	SLC19A3	c.1264A>G	NM_025243.3	NP_079519.1:p.(Thr422Ala)	NC_000002.11:g.228552932T>C	(Likely) pathogenic	1 lab	24133e69e5
9:131367612 SPTAN1 A>G	9	131367612	131367612	A	G	SPTAN1	c.3902A>G	NM_001130438.2	NP_001123910.1:p.(Gln1301Arg)	NC_000009.11:g.131367612A>G	VUS	1 lab	24154dd277
12:24470894 SOX5 C>T	12	24470894	24470894	C	T	SOX5	c.-173-40648G>A	NM_001261414.1	NP_001248343.1:p.?	NC_000012.11:g.24470894C>T	(Likely) benign	1 lab	e9bee70cb6
8:87738796 CNGB3 G>A	8	87738796	87738796	G	A	CNGB3	c.301C>T	NM_019098.4	NP_061971.3:p.(Gln101Ter)	NC_000008.10:g.87738796G>A	(Likely) pathogenic	1 lab	2417c0499d
10:89653836 PTEN T>A	10	89653836	89653836	T	A	PTEN	c.134T>A	NM_000314.4	NP_000305.3:p.(Val45Glu)	NC_000010.10:g.89653836T>A	VUS	1 lab	2417ebabc5
12:76740582 BBS10 G>C	12	76740582	76740582	G	C	BBS10	c.1183C>G	NM_024685.3	NP_078961.3:p.(His395Asp)	NC_000012.11:g.76740582G>C	VUS	1 lab	2418b18c71
12:6121220 VWF C>T	12	6121220	6121220	C	T	VWF	c.5664+33G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121220C>T	(Likely) benign	1 lab	24192f361e
X:107826168 COL4A5 G>C	X	107826168	107826168	G	C	COL4A5	c.990+1G>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107826168G>C	(Likely) pathogenic	1 lab	2419712c93
3:186940937 MASP1 C>A	3	186940937	186940937	C	A	MASP1	c.1787G>T	NM_001879.5	NP_001870.3:p.(Arg596Met)	NC_000003.11:g.186940937C>A	VUS	1 lab	ea085e76e2
3:129247860 RHO T>C	3	129247860	129247860	T	C	RHO	c.284T>C	NM_000539.3	NP_000530.1:p.(Leu95Pro)	NC_000003.11:g.129247860T>C	(Likely) pathogenic	1 lab	241ced45cf
10:95552719 LGI1 CT>C	10	95552719	95552728	CT	C	LGI1	c.673+59del	NM_005097.4	NP_005088.1:p.?	NC_000010.10:g.95552728del	(Likely) benign	1 lab	02f58da316
10:73405737 CDH23 T>G	10	73405737	73405737	T	G	CDH23	c.1290T>G	NM_022124.5	NP_071407.4:p.(Asp430Glu)	NC_000010.10:g.73405737T>G	VUS	1 lab	241f4a4938
X:122551533 GRIA3 A>G	X	122551533	122551533	A	G	GRIA3	c.1781A>G	NM_000828.4	NP_000819.3:p.(Gln594Arg)	NC_000023.10:g.122551533A>G	VUS	1 lab	241f97dd8b
8:10480362 RP1L1 C>T	8	10480362	10480362	C	T	RP1L1	c.350G>A	NM_178857.6	NP_849188.4:p.(Gly117Asp)	NC_000008.10:g.10480362C>T	VUS	1 lab	24259f274f
X:10085420 WWC3 C>T	X	10085420	10085420	C	T	WWC3	c.1321C>T	NM_015691.3	NP_056506.2:p.(Arg441Trp)	NC_000023.10:g.10085420C>T	(Likely) benign	1 lab	ea2e96648e
3:9979791 CRELD1 G>A	3	9979791	9979791	G	A	CRELD1	c.460+1G>A	NM_001077415.3	NP_001070883.2:p.?	NC_000003.11:g.9979791G>A	VUS	1 lab	242fe95e59
17:29541339 NF1 A>T	17	29541339	29541339	A	T	NF1	c.1393-130A>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29541339A>T	(Likely) benign	1 lab	24328cdb7c
2:223158892 PAX3 C>T	2	223158892	223158892	C	T	PAX3	c.580G>A	NM_181459.3	NP_852124.1:p.(Glu194Lys)	NC_000002.11:g.223158892C>T	VUS	1 lab	2432a570df
2:179454516 TTN T>C	2	179454516	179454516	T	C	TTN	c.61936A>G	NM_001267550.2	NP_001254479.2:p.(Asn20646Asp)	NC_000002.11:g.179454516T>C	VUS	1 lab	24331b336e
4:114209578 ANK2 A>G	4	114209578	114209578	A	G	ANK2	c.2213A>G	NM_001148.5	NP_001139.3:p.(Tyr738Cys)	NC_000004.11:g.114209578A>G	(Likely) pathogenic	1 lab	24336e73db
5:176814862 SLC34A1 C>A	5	176814862	176814862	C	A	SLC34A1	c.632C>A	NM_003052.4	NP_003043.3:p.(Thr211Asn)	NC_000005.9:g.176814862C>A	VUS	1 lab	243396a2da
8:61775189 CHD7 G>A	8	61775189	61775189	G	A	CHD7				NC_000008.10:g.61775189G>A	(Likely) pathogenic	1 lab	259669a57c
3:71026121 FOXP1 A>C	3	71026121	71026121	A	C	FOXP1	c.1498T>G	NM_001244808.2	NP_001231737.1:p.(Tyr500Asp)	NC_000003.11:g.71026121A>C	(Likely) pathogenic	1 lab	02f5d5c521
2:179393651 TTN A>C	2	179393651	179393651	A	C	TTN	c.106827T>G	NM_001267550.2	NP_001254479.2:p.(Ile35609Met)	NC_000002.11:g.179393651A>C	(Likely) benign	1 lab	2434ca82b4
X:20222137 RPS6KA3 TA>T	X	20222137	20222138	TA	T	RPS6KA3	c.325+2del	NM_004586.2	NP_004577.1:p.?	NC_000023.10:g.20222138del	(Likely) pathogenic	1 lab	2436747521
11:66469125 SPTBN2 C>A	11	66469125	66469125	C	A	SPTBN2	c.2746G>T	NM_006946.3	NP_008877.1:p.(Glu916Ter)	NC_000011.9:g.66469125C>A	(Likely) pathogenic	1 lab	02f698e3a6
6:42665921 PRPH2 G>T	6	42665921	42665921	G	T	PRPH2	c.*112C>A	NM_000322.4	NP_000313.2:p.?	NC_000006.11:g.42665921G>T	(Likely) benign	1 lab	243e1dec4d
10:99512639 ZFYVE27 G>A	10	99512639	99512639	G	A	ZFYVE27	c.912+5G>A	NM_001002261.3	NP_001002261.1:p.?	NC_000010.10:g.99512639G>A	VUS	1 lab	243e4fee41
1:169529826 F5 C>A	1	169529826	169529826	C	A	F5	c.552G>T	NM_000130.4	NP_000121.2:p.(Ser184=)	NC_000001.10:g.169529826C>A	(Likely) benign	1 lab	24429d81b0
X:153578208 FLNA G>C	X	153578208	153578208	G	C	FLNA	c.7337C>G	NM_001456.3	NP_001447.2:p.(Thr2446Arg)	NC_000023.10:g.153578208G>C	(Likely) benign	1 lab	244675f5cd
10:52751272 PRKG1 C>A	10	52751272	52751272	C	A	PRKG1	c.134C>A	NM_001098512.2	NP_001091982.1:p.(Ser45Ter)	NC_000010.10:g.52751272C>A	VUS	1 lab	ea2edcc01e
1:120539826 NOTCH2 T>A	1	120539826	120539826	T	A	NOTCH2	c.545A>T	NM_024408.3	NP_077719.2:p.(Asp182Val)	NC_000001.10:g.120539826T>A	VUS	1 lab	24495bcb7f
2:179639020 TTN G>A	2	179639020	179639020	G	A	TTN	c.6971C>T	NM_001267550.2	NP_001254479.2:p.(Thr2324Met)	NC_000002.11:g.179639020G>A	VUS	1 lab	244a3745d5
11:19223546 CSRP3 T>G	11	19223546	19223546	T	G	CSRP3	c.-74A>C	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19223546T>G	(Likely) benign	1 lab	272b02d8bb
2:179413369 TTN G>T	2	179413369	179413369	G	T	TTN	c.92984C>A	NM_001267550.2	NP_001254479.2:p.(Thr30995Asn)	NC_000002.11:g.179413369G>T	VUS	1 lab	244c3a6641
11:2170401 IGF2 A>G	11	2170401	2170401	A	G	IGF2	c.-294T>C	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170401A>G	(Likely) benign	1 lab	ea2f63a1dd
1:43408910 SLC2A1 T>C	1	43408910	43408910	T	C	SLC2A1	c.101A>G	NM_006516.2	NP_006507.2:p.(Asn34Ser)	NC_000001.10:g.43408910T>C	(Likely) pathogenic	1 lab	2450ad7d41
2:48027181 MSH6 T>C	2	48027181	48027181	T	C	MSH6	c.2059T>C	NM_000179.2	NP_000170.1:p.(Cys687Arg)	NC_000002.11:g.48027181T>C	VUS	1 lab	2452e251c2
20:57429252 GNAS T>C	20	57429252	57429252	T	C	GNAS	c.745T>C	NM_001077490.1	NP_001070958.1:p.(Leu249=)	NC_000020.10:g.57429252T>C	VUS	1 lab	eaa62b2025
3:38591743 SCN5A G>A	3	38591743	38591743	G	A	SCN5A	c.*69C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38591743G>A	(Likely) benign	1 lab	2456a5e5eb
1:103440424 COL11A1 G>A	1	103440424	103440424	G	A	COL11A1	c.2770C>T	NM_001854.3	NP_001845.3:p.(Gln924Ter)	NC_000001.10:g.103440424G>A	(Likely) pathogenic	1 lab	2456d21f17
1:1454362 ATAD3A T>C	1	1454362	1454362	T	C	ATAD3A	c.650T>C	NM_018188.4	NP_060658.3:p.(Met217Thr)	NC_000001.10:g.1454362T>C	(Likely) benign	1 lab	245ae71f38
11:86663041 FZD4 G>A	11	86663041	86663041	G	A	FZD4	c.757C>T	NM_012193.3	NP_036325.2:p.(Arg253Cys)	NC_000011.9:g.86663041G>A	VUS	1 lab	245cf5bbf6
10:89692941 PTEN G>C	10	89692941	89692941	G	C	PTEN	c.425G>C	NM_000314.4	NP_000305.3:p.(Arg142Pro)	NC_000010.10:g.89692941G>C	VUS	1 lab	245f872675
12:2676906 CACNA1C T>G	12	2676906	2676906	T	G	CACNA1C	c.1841T>G	NM_199460.2	NP_955630.2:p.(Leu614Arg)	NC_000012.11:g.2676906T>G	(Likely) pathogenic	1 lab	24610ec717
6:123699026 TRDN T>G	6	123699026	123699026	T	G	TRDN	c.1204A>C	NM_006073.4	NP_006064.2:p.(Lys402Gln)	NC_000006.11:g.123699026T>G	VUS	1 lab	2463a6cf35
6:33385887 CUTA A>G	6	33385887	33385887	A	G	CUTA	c.76T>C	NM_001014433.2	NP_001014433.1:p.(Ser26Pro)	NC_000006.11:g.33385887A>G	(Likely) benign	1 lab	eb287dd605
2:216298161 FN1 A>T	2	216298161	216298161	A	T	FN1	c.301T>A	NM_212482.4	NP_997647.2:p.(Tyr101Asn)	NC_000002.11:g.216298161A>T	VUS	1 lab	246bc34ac1
20:21695194 PAX1 C>T	20	21695194	21695194	C	T	PAX1	c.1358C>T	NM_006192.5	NP_006183.2:p.(Pro453Leu)	NC_000020.10:g.21695194C>T	(Likely) benign	1 lab	02f9028d0c
3:129247695 RHO T>C	3	129247695	129247695	T	C	RHO	c.119T>C	NM_000539.3	NP_000530.1:p.(Leu40Pro)	NC_000003.11:g.129247695T>C	VUS	1 lab	246d8dd35c
2:47635679 MSH2 G>A	2	47635679	47635679	G	A	MSH2	c.351G>A	NM_000251.3	NP_000242.1:p.(Trp117Ter)	NC_000002.11:g.47635679G>A	(Likely) pathogenic	1 lab	247019b6f1
13:32914377 BRCA2 T>C	13	32914377	32914377	T	C	BRCA2	c.5885T>C	NM_000059.3	NP_000050.2:p.(Ile1962Thr)	NC_000013.10:g.32914377T>C	(Likely) benign	1 lab	24702a344f
18:47777334 CFAP53 C>T	18	47777334	47777334	C	T	CFAP53	c.790G>A	NM_145020.4	NP_659457.2:p.(Ala264Thr)	NC_000018.9:g.47777334C>T	VUS	1 lab	2471015860
7:65445377 GUSB A>C	7	65445377	65445377	A	C	GUSB	c.230T>G	NM_000181.4	NP_000172.2:p.(Met77Arg)	NC_000007.13:g.65445377A>C	(Likely) pathogenic	1 lab	24765f7ec3
6:26091047 HFE A>G	6	26091047	26091047	A	G	HFE	c.77-22A>G	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26091047A>G	VUS	1 lab	24766deab4
7:140111734 RAB19 C>T	7	140111734	140111734	C	T	RAB19	c.262C>T	NM_001008749.2	NP_001008749.2:p.(Arg88Cys)	NC_000007.13:g.140111734C>T	VUS	1 lab	2476948bad
2:179640781 TTN G>C	2	179640781	179640781	G	C	TTN	c.5810C>G	NM_001267550.1	NP_001254479.1:p.(Ser1937Cys)	NC_000002.11:g.179640781G>C	VUS	1 lab	02fd3043b2
8:143996160 CYP11B2 T>A	8	143996160	143996160	T	A	CYP11B2	c.760A>T	NM_000498.3	NP_000489.3:p.(Lys254Ter)	NC_000008.10:g.143996160T>A	(Likely) pathogenic	1 lab	247b17361d
5:179070210 SPATA31J1 A>G	5	179070210	179070210	A	G	SPATA31J1	c.343T>C	NM_001142306.1	NP_001135778.1:p.(Cys115Arg)	NC_000005.9:g.179070210A>G	(Likely) benign	1 lab	ebe8f10963
13:113768154 F7 T>G	13	113768154	113768154	T	G	F7	c.251-7T>G	NM_019616.4	NP_062562.1:p.?	NC_000013.10:g.113768154T>G	VUS	1 lab	2488a562c2
20:57429719 GNAS G>T	20	57429719	57429719	G	T	GNAS	c.1212G>T	NM_001077490.1	NP_001070958.1:p.(Met404Ile)	NC_000020.10:g.57429719G>T	VUS	1 lab	ed914ed3e5
6:158571548 SERAC1 G>A	6	158571548	158571548	G	A	SERAC1	c.202C>T	NM_032861.3	NP_116250.3:p.(Arg68Ter)	NC_000006.11:g.158571548G>A	(Likely) pathogenic	1 lab	248a360db9
6:32008765 CYP21A2 C>T	6	32008765	32008765	C	T	CYP21A2	c.1342C>T	NM_000500.9	NP_000491.4:p.(Gln448Ter)	NC_000006.11:g.32008765C>T	(Likely) pathogenic	1 lab	2493171140
2:5833184 SOX11 G>A	2	5833184	5833184	G	A	SOX11	c.331G>A	NM_003108.4	NP_003099.1:p.(Ala111Thr)	NC_000002.11:g.5833184G>A	VUS	1 lab	24931845db
X:102979067 GLRA4 C>T	X	102979067	102979067	C	T	GLRA4	n.725G>A	NR_164162.1		NC_000023.10:g.102979067C>T	VUS	1 lab	ec5b710e37
1:215956089 USH2A G>A	1	215956089	215956089	G	A	USH2A	c.10576C>T	NM_206933.2	NP_996816.2:p.(Gln3526Ter)	NC_000001.10:g.215956089G>A	(Likely) pathogenic	1 lab	24959440ef
5:112174650 APC G>GA	5	112174650	112174652	G	GA	APC	c.3361dup	NM_000038.5	NP_000029.2:p.(Ile1121AsnfsTer2)	NC_000005.9:g.112174652dup	(Likely) pathogenic	1 lab	2495ef7d59
22:38109327 TRIOBP T>C	22	38109327	38109327	T	C	TRIOBP	c.365T>C	NM_001039141.2	NP_001034230.1:p.(Leu122Ser)	NC_000022.10:g.38109327T>C	(Likely) benign	1 lab	24966cf120
9:139395162 NOTCH1 G>A	9	139395162	139395162	G	A	NOTCH1	c.5776C>T	NM_017617.3	NP_060087.3:p.(Arg1926Cys)	NC_000009.11:g.139395162G>A	VUS	1 lab	2496a15001
20:10393439 MKKS C>T	20	10393439	10393439	C	T	MKKS	c.724G>A	NM_018848.3	NP_061336.1:p.(Ala242Thr)	NC_000020.10:g.10393439C>T	VUS	1 lab	0afe2fe053
3:71021737 FOXP1 AT>A	3	71021737	71021739	AT	A	FOXP1	c.1620del	NM_001349338.3	NP_001336267.1:p.(Glu540AspfsTer59)	NC_000003.11:g.71021739del	(Likely) pathogenic	1 lab	249b7a5873
5:90368422 ADGRV1 G>A	5	90368422	90368422	G	A	ADGRV1	c.18310+1G>A	NM_032119.3	NP_115495.3:p.?	NC_000005.9:g.90368422G>A	(Likely) pathogenic	1 lab	249c68f132
13:78493740 EDNRB C>G	13	78493740	78493740	C	G	EDNRB	c.-51-981G>C	NM_000115.3	NP_000106.1:p.?	NC_000013.10:g.78493740C>G	VUS	1 lab	ecd05d8adc
1:197072042 ASPM AAT>A	1	197072042	197072046	AAT	A	ASPM	c.6337_6338del	NM_018136.5	NP_060606.3:p.(Ile2113SerfsTer11)	NC_000001.10:g.197072045_197072046del	(Likely) pathogenic	1 lab	249e3f4899
1:39768683 MACF1 G>T	1	39768683	39768683	G	T	MACF1	c.2737G>T	NM_012090.5	NP_036222.3:p.(Ala913Ser)	NC_000001.10:g.39768683G>T	VUS	1 lab	249f15ef00
6:33136752 COL11A2 G>C	6	33136752	33136752	G	C	COL11A2	c.3832C>G	NM_080680.2	NP_542411.2:p.(Pro1278Ala)	NC_000006.11:g.33136752G>C	VUS	1 lab	24a0aec69f
3:23963158 RPL15 C>T	3	23963158	23963158	C	T	RPL15	c.430C>T	NM_001253384.1	NP_001240313.1:p.(Arg144Trp)	NC_000003.11:g.23963158C>T	VUS	1 lab	ece15ba669
4:6293703 WFS1 G>A	4	6293703	6293703	G	A	WFS1	c.691G>A	NM_006005.3	NP_005996.2:p.(Glu231Lys)	NC_000004.11:g.6293703G>A	VUS	1 lab	24a3e83e10
19:54409614 PRKCG A>G	19	54409614	54409614	A	G	PRKCG	c.1808A>G	NM_001316329.1	NP_001303258.1:p.(Asp603Gly)	NC_000019.9:g.54409614A>G	VUS	1 lab	24a5901af3
17:33445519 RAD51D C>T	17	33445519	33445519	C	T	RAD51D	c.263+1G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445519C>T	(Likely) pathogenic	1 lab	24a8a1554c
15:48760345 FBN1 A>AC	15	48760345	48760346	A	AC	FBN1	c.4583-47dup	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48760346dup	VUS	1 lab	24a8ae3b0b
10:3181107 PITRM1 G>A	10	3181107	3181107	G	A	PITRM1	c.2906C>T	NM_014889.4	NP_055704.2:p.(Pro969Leu)	NC_000010.10:g.3181107G>A	(Likely) benign	1 lab	24a8ef1ec1
5:127624205 FBN2 A>G	5	127624205	127624205	A	G	FBN2	c.6682T>C	NM_001999.4	NP_001990.2:p.(Cys2228Arg)	NC_000005.9:g.127624205A>G	VUS	1 lab	24aa6ed278
10:85970923 CDHR1 T>G	10	85970923	85970923	T	G	CDHR1				NC_000010.10:g.85970923T>G	(Likely) pathogenic	1 lab	24adc2850c
1:147380678 GJA8 C>G	1	147380678	147380678	C	G	GJA8	c.596C>G	NM_005267.5	NP_005258.2:p.(Pro199Arg)	NC_000001.10:g.147380678C>G	VUS	1 lab	24b0cbe411
X:119580298 LAMP2 A>G	X	119580298	119580298	A	G	LAMP2	c.742-16T>C	NM_002294.2	NP_002285.1:p.?	NC_000023.10:g.119580298A>G	(Likely) benign	1 lab	24b12b73ec
12:25368454 KRAS C>T	12	25368454	25368454	C	T	KRAS	c.491G>A	NM_033360.2	NP_203524.1:p.(Arg164Gln)	NC_000012.11:g.25368454C>T	(Likely) benign	1 lab	24b2222bc2
18:28654749 DSC2 C>T	18	28654749	28654749	C	T	DSC2	c.1788G>A	NM_024422.4	NP_077740.1:p.(Ala596=)	NC_000018.9:g.28654749C>T	(Likely) benign	1 lab	24b3f20872
11:47356592 MYBPC3 C>T	11	47356592	47356592	C	T	MYBPC3	c.2905+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356592C>T	(Likely) pathogenic	1 lab	24b464fb65
17:56811541 RAD51C G>A	17	56811541	56811541	G	A	RAD51C	c.1089G>A	NM_058216.3	NP_478123.1:p.(Leu363=)	NC_000017.10:g.56811541G>A	(Likely) benign	1 lab	24b7e74d15
2:47630523 MSH2 A>T	2	47630523	47630523	A	T	MSH2	c.193A>T	NM_000251.2	NP_000242.1:p.(Lys65Ter)	NC_000002.11:g.47630523A>T	(Likely) pathogenic	1 lab	24b90bf395
2:179517070 TTN A>T	2	179517070	179517070	A	T	TTN	c.39132T>A	NM_001267550.2	NP_001254479.2:p.(Pro13044=)	NC_000002.11:g.179517070A>T	(Likely) benign	1 lab	24bedc7fd2
12:40884697 MUC19 C>G	12	40884697	40884697	C	G	MUC19	c.17945C>G	NM_173600.2	NP_775871.2:p.(Ala5982Gly)	NC_000012.11:g.40884697C>G	(Likely) benign	1 lab	ed8da994bf
1:210971033 KCNH1 C>T	1	210971033	210971033	C	T	KCNH1	c.1732G>A	NM_172362.3	NP_758872.1:p.(Glu578Lys)	NC_000001.10:g.210971033C>T	(Likely) pathogenic	1 lab	24c18b7972
19:49216729 MAMSTR G>T	19	49216729	49216729	G	T	MAMSTR	c.1043C>A	NM_001130915.1	NP_001124387.1:p.(Ser348Ter)	NC_000019.9:g.49216729G>T	VUS	1 lab	24c23bd19d
8:61757914 CHD7 AT>A	8	61757914	61757915	AT	A	CHD7	c.5157del	NM_017780.3	NP_060250.2:p.(Asp1719GlufsTer13)	NC_000008.10:g.61757915del	(Likely) pathogenic	1 lab	24c2d10471
2:32340770 SPAST G>A	2	32340770	32340770	G	A	SPAST	c.871-1G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32340770G>A	(Likely) pathogenic	1 lab	24c5fa4a69
3:189604149 TP63 T>G	3	189604149	189604149	T	G	TP63	c.1350-34T>G	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189604149T>G	(Likely) benign	1 lab	03034e8929
1:10407891 KIF1B A>C	1	10407891	10407891	A	C	KIF1B	c.3726+6A>C	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10407891A>C	(Likely) benign	1 lab	0b1357a03d
2:179569255 TTN C>T	2	179569255	179569255	C	T	TTN	c.29944G>A	NM_001267550.2	NP_001254479.2:p.(Ala9982Thr)	NC_000002.11:g.179569255C>T	VUS	1 lab	24c9bf6711
16:23624964 PALB2 C>T	16	23624964	23624964	C	T	PALB2	c.3201+361G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23624964C>T	(Likely) benign	1 lab	24cd7ce4ea
1:17314730 ATP13A2 C>T	1	17314730	17314730	C	T	ATP13A2	c.2763-1G>A	NM_022089.2	NP_071372.1:p.?	NC_000001.10:g.17314730C>T	(Likely) pathogenic	1 lab	24cd8a3308
6:152737765 SYNE1 T>C	6	152737765	152737765	T	C	SYNE1				NC_000006.11:g.152737765T>C	(Likely) benign	1 lab	251e2758bc
2:179397806 TTN C>T	2	179397806	179397806	C	T	TTN	c.76716G>A	NM_133432.3	NP_597676.3:p.(Pro25572=)	NC_000002.11:g.179397806C>T	(Likely) benign	1 lab	0303d5c4e8
X:12627982 FRMPD4 G>C	X	12627982	12627982	G	C	FRMPD4	c.301G>C	NM_014728.3	NP_055543.2:p.(Val101Leu)	NC_000023.10:g.12627982G>C	VUS	1 lab	24d3f8072c
12:27830005 PPFIBP1 C>T	12	27830005	27830005	C	T	PPFIBP1	c.1591C>T	NM_003622.3	NP_003613.3:p.(Arg531Ter)	NC_000012.11:g.27830005C>T	(Likely) pathogenic	1 lab	24d604fd42
22:29108025 CHEK2 T>C	22	29108025	29108025	T	C	CHEK2	c.684-20A>G	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29108025T>C	(Likely) benign	1 lab	24d6ba7c55
20:62119747 EEF1A2 C>T	20	62119747	62119747	C	T	EEF1A2				NC_000020.10:g.62119747C>T	(Likely) benign	1 lab	24dbbaa2a7
4:1932410 NSD2 C>CA	4	1932410	1932411	C	CA	NSD2	c.1469dup	NM_133330.2	NP_579877.1:p.(Trp491ValfsTer6)	NC_000004.11:g.1932411dup	(Likely) pathogenic	1 lab	24dcc26919
16:3789682 CREBBP T>C	16	3789682	3789682	T	C	CREBBP	c.4177A>G	NM_004380.3	NP_004371.2:p.(Thr1393Ala)	NC_000016.9:g.3789682T>C	VUS	1 lab	24e0e55a08
8:92086057 OTUD6B A>G	8	92086057	92086057	A	G	OTUD6B	c.235-2A>G	NM_016023.5	NP_057107.4:p.?	NC_000008.10:g.92086057A>G	(Likely) pathogenic	1 lab	24e1b30e6c
19:50906769 POLD1 G>C	19	50906769	50906769	G	C	POLD1	c.1157G>C	NM_002691.3	NP_002682.2:p.(Arg386Pro)	NC_000019.9:g.50906769G>C	VUS	1 lab	24e41211b5
11:16424379 SOX6 A>T	11	16424379	16424379	A	T	SOX6	c.-5+5865T>A	NM_001145811.1	NP_001139283.1:p.?	NC_000011.9:g.16424379A>T	(Likely) benign	1 lab	ee27b552bd
7:149499202 SSPOP C>T	7	149499202	149499202	C	T	SSPOP	n.7866C>T	NR_163594.1		NC_000007.13:g.149499202C>T	VUS	1 lab	eeddc3d7c4
12:133253995 POLE G>A	12	133253995	133253995	G	A	POLE	c.755C>T	NM_006231.2	NP_006222.2:p.(Ala252Val)	NC_000012.11:g.133253995G>A	(Likely) benign	1 lab	24f296d5cc
7:120428689 TSPAN12 A>G	7	120428689	120428689	A	G	TSPAN12	c.875T>C	NM_012338.3	NP_036470.1:p.(Met292Thr)	NC_000007.13:g.120428689A>G	VUS	1 lab	24f4d7d8c9
16:56902284 SLC12A3 G>T	16	56902284	56902284	G	T	SLC12A3	c.505G>T	NM_000339.2	NP_000330.2:p.(Val169Phe)	NC_000016.9:g.56902284G>T	VUS	1 lab	24fe522f42
8:24813734 MISSING T>G	8	24813734	24813734	T	G	MISSING				NC_000008.10:g.24813734T>G	VUS	1 lab	24febc8fca
2:241710553 KIF1A C>T	2	241710553	241710553	C	T	KIF1A	c.1251G>A	NM_001330290.2	NP_001317219.1:p.(Thr417=)	NC_000002.11:g.241710553C>T	(Likely) benign	1 lab	1f1fe4a552
7:128038610 IMPDH1 T>C	7	128038610	128038610	T	C	IMPDH1	c.932A>G	NM_000883.4	NP_000874.2:p.(Asp311Gly)	NC_000007.13:g.128038610T>C	VUS	1 lab	25041b85e2
1:43395326 SLC2A1 G>A	1	43395326	43395326	G	A	SLC2A1	c.805C>T	NM_006516.2	NP_006507.2:p.(Arg269Cys)	NC_000001.10:g.43395326G>A	(Likely) benign	1 lab	2504b8d78f
2:179599212 TTN T>C	2	179599212	179599212	T	C	TTN	c.15339A>G	NM_001267550.2	NP_001254479.2:p.(Lys5113=)	NC_000002.11:g.179599212T>C	(Likely) benign	1 lab	25056fa249
2:179454502 TTN A>G	2	179454502	179454502	A	G	TTN	c.61950T>C	NM_001267550.2	NP_001254479.2:p.(Val20650=)	NC_000002.11:g.179454502A>G	(Likely) benign	1 lab	2506d6a180
4:169799301 PALLD T>TCGCCCC	4	169799301	169799317	T	TCGCCCC	PALLD	c.270_275dup	NM_001166110.2	NP_001159582.1:p.(Pro93_Pro94dup)	NC_000004.11:g.169799312_169799317dup	(Likely) benign	1 lab	03061551c2
5:71499390 MAP1B G>A	5	71499390	71499390	G	A	MAP1B	c.7013G>A	NM_005909.5	NP_005900.2:p.(Gly2338Glu)	NC_000005.9:g.71499390G>A	VUS	1 lab	250f23d0b0
5:43613046 NNT A>G	5	43613046	43613046	A	G	NNT	c.188A>G	NM_012343.3	NP_036475.3:p.(Lys63Arg)	NC_000005.9:g.43613046A>G	(Likely) benign	1 lab	2510790c7e
10:225974 ZMYND11 C>T	10	225974	225974	C	T	ZMYND11	c.22C>T	NM_006624.5	NP_006615.2:p.(Arg8Ter)	NC_000010.10:g.225974C>T	(Likely) pathogenic	1 lab	25130aadb4
X:85213868 CHM GT>G	X	85213868	85213870	GT	G	CHM	c.816del	NM_000390.3	NP_000381.1:p.(Glu272AspfsTer19)	NC_000023.10:g.85213870del	(Likely) pathogenic	1 lab	251901f80d
12:49446407 KMT2D GC>G	12	49446407	49446410	GC	G	KMT2D	c.1197del	NM_003482.4	NP_003473.3:p.(His400ThrfsTer2)	NC_000012.11:g.49446410del	(Likely) pathogenic	1 lab	251a138e2e
16:79633559 MAF C>T	16	79633559	79633559	C	T	MAF	c.241G>A	NM_005360.4	NP_005351.2:p.(Gly81Ser)	NC_000016.9:g.79633559C>T	VUS	1 lab	2522900ecc
9:140708931 EHMT1 C>T	9	140708931	140708931	C	T	EHMT1	c.3229C>T	NM_024757.4	NP_079033.4:p.(Gln1077Ter)	NC_000009.11:g.140708931C>T	(Likely) pathogenic	1 lab	252c7a256e
3:38835432 SCN10A T>A	3	38835432	38835432	T	A	SCN10A	c.70A>T	NM_006514.4	NP_006505.4:p.(Ile24Leu)	NC_000003.11:g.38835432T>A	VUS	1 lab	252f53c0e3
10:95556836 LGI1 A>C	10	95556836	95556836	A	C	LGI1	c.950A>C	NM_005097.3	NP_005088.1:p.(Lys317Thr)	NC_000010.10:g.95556836A>C	VUS	1 lab	252ffb15c8
2:39249758 SOS1 C>A	2	39249758	39249758	C	A	SOS1	c.1811G>T	NM_005633.3	NP_005624.2:p.(Gly604Val)	NC_000002.11:g.39249758C>A	(Likely) pathogenic	1 lab	25304ad8b6
6:33145480 COL11A2 C>T	6	33145480	33145480	C	T	COL11A2	c.1876G>A	NM_080680.2	NP_542411.2:p.(Val626Ile)	NC_000006.11:g.33145480C>T	VUS	1 lab	2530c51cd4
X:13732585 TRAPPC2 G>A	X	13732585	13732585	G	A	TRAPPC2	c.466C>T	NM_001128835.2	NP_001122307.2:p.(Arg156Ter)	NC_000023.10:g.13732585G>A	(Likely) pathogenic	1 lab	2532e69fcf
17:59770841 BRIP1 A>G	17	59770841	59770841	A	G	BRIP1	c.2525T>C	NM_032043.3	NP_114432.2:p.(Leu842Pro)	NC_000017.10:g.59770841A>G	VUS	1 lab	25332a1c4b
10:89720548 PTEN A>G	10	89720548	89720548	A	G	PTEN	c.802-103A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720548A>G	(Likely) benign	1 lab	253448cd15
3:9490114 SETD5 G>T	3	9490114	9490114	G	T	SETD5	c.2146G>T	NM_001080517.2	NP_001073986.1:p.(Glu716Ter)	NC_000003.11:g.9490114G>T	(Likely) pathogenic	1 lab	25345b1e48
7:117305562 CFTR A>C	7	117305562	117305562	A	C	CFTR	c.4186A>C	NM_000492.3	NP_000483.3:p.(Thr1396Pro)	NC_000007.13:g.117305562A>C	VUS	1 lab	2537412aba
20:5933130 MCM8 A>G	20	5933130	5933130	A	G	MCM8	c.209A>G	NM_032485.6	NP_115874.3:p.(Asp70Gly)	NC_000020.10:g.5933130A>G	VUS	1 lab	253932db3c
15:40727629 IVD C>T	15	40727629	40727629	C	T	IVD	c.1243C>T	NM_001354598.1	NP_001341527.1:p.(Arg415Cys)	NC_000015.9:g.40727629C>T	VUS	1 lab	eefe397071
2:165986770 SCN3A G>A	2	165986770	165986770	G	A	SCN3A	c.2602C>T	NM_006922.3	NP_008853.3:p.(Leu868=)	NC_000002.11:g.165986770G>A	(Likely) benign	1 lab	25462863f2
1:152276699 FLG A>G	1	152276699	152276699	A	G	FLG	c.10663T>C	NM_002016.1	NP_002007.1:p.(Trp3555Arg)	NC_000001.10:g.152276699A>G	(Likely) benign	1 lab	254b56b024
16:57466441 CIAPIN1 C>CT	16	57466441	57466443	C	CT	CIAPIN1	c.587dup	NM_020313.3	NP_064709.2:p.(Leu197AlafsTer18)	NC_000016.9:g.57466443dup	VUS	1 lab	254e0f6baa
10:102566186 PAX2 G>A	10	102566186	102566186	G	A	PAX2	c.617-1G>A	NM_003988.4	NP_003979.2:p.?	NC_000010.10:g.102566186G>A	(Likely) pathogenic	1 lab	254e8a1bfe
X:103041659 PLP1 A>G	X	103041659	103041659	A	G	PLP1	c.453+4A>G	NM_000533.3	NP_000524.3:p.?	NC_000023.10:g.103041659A>G	(Likely) pathogenic	1 lab	254ed116ee
5:112175065 APC A>G	5	112175065	112175065	A	G	APC	c.3774A>G	NM_000038.5	NP_000029.2:p.(Thr1258=)	NC_000005.9:g.112175065A>G	(Likely) benign	1 lab	25508fed41
11:64572047 MEN1 C>T	11	64572047	64572047	C	T	MEN1	c.1592G>A	NM_130799.2	NP_570711.1:p.(Gly531Asp)	NC_000011.9:g.64572047C>T	VUS	1 lab	25521505bf
4:114277532 ANK2 G>A	4	114277532	114277532	G	A	ANK2	c.7758G>A	NM_001148.5	NP_001139.3:p.(Glu2586=)	NC_000004.11:g.114277532G>A	(Likely) benign	1 lab	2554836211
10:73553382 CDH23 GT>G	10	73553382	73553383	GT	G	CDH23	c.6698del	NM_022124.5	NP_071407.4:p.(Val2233GlyfsTer8)	NC_000010.10:g.73553383del	(Likely) pathogenic	1 lab	2555c5e547
1:201328705 TNNT2 G>A	1	201328705	201328705	G	A	TNNT2	c.821+46C>T	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201328705G>A	(Likely) benign	1 lab	2559f00d1a
3:38805057 SCN10A C>T	3	38805057	38805057	C	T	SCN10A	c.630G>A	NM_006514.3	NP_006505.3:p.(Gly210=)	NC_000003.11:g.38805057C>T	(Likely) benign	1 lab	255c26f9c7
16:5132575 ALG1 G>C	16	5132575	5132575	G	C	ALG1	c.1088G>C	NM_019109.4	NP_061982.3:p.(Gly363Ala)	NC_000016.9:g.5132575G>C	(Likely) pathogenic	1 lab	256018bab5
7:91709404 AKAP9 A>G	7	91709404	91709404	A	G	AKAP9	c.7957A>G	NM_005751.4	NP_005742.4:p.(Asn2653Asp)	NC_000007.13:g.91709404A>G	(Likely) benign	1 lab	03087f51f5
11:2868993 KCNQ1 G>A	11	2868993	2868993	G	A	KCNQ1	c.1795-4G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2868993G>A	(Likely) benign	1 lab	25645b2a13
2:200246521 SATB2 C>T	2	200246521	200246521	C	T	SATB2	c.369G>A	NM_001172509.2	NP_001165980.1:p.(Trp123Ter)	NC_000002.11:g.200246521C>T	(Likely) pathogenic	1 lab	25662301ea
7:149589424 ACTR3C A>G	7	149589424	149589424	A	G	ACTR3C	c.173T>C	NM_001351027.1	NP_001337956.1:p.(Val58Ala)	NC_000007.13:g.149589424A>G	VUS	1 lab	ef49e29eec
9:117792681 TNC C>A	9	117792681	117792681	C	A	TNC	c.5924G>T	NM_002160.3	NP_002151.2:p.(Gly1975Val)	NC_000009.11:g.117792681C>A	(Likely) benign	1 lab	257028a280
22:19770562 TBX1 G>T	22	19770562	19770562	G	T	TBX1	c.*10+7G>T	NM_005992.1	NP_005983.1:p.?	NC_000022.10:g.19770562G>T	(Likely) benign	1 lab	ef81f3445b
11:121037438 TECTA T>TA	11	121037438	121037439	T	TA	TECTA				NC_000011.9:g.121037439dup	(Likely) pathogenic	1 lab	272d01c2b6
2:99013153 CNGA3 A>G	2	99013153	99013153	A	G	CNGA3	c.1520A>G	NM_001298.2	NP_001289.1:p.(Asp507Gly)	NC_000002.11:g.99013153A>G	VUS	1 lab	25737e41cf
X:619510 SHOX T>A	X	619510	619510	T	A	SHOX	c.634-10T>A	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.619510T>A	(Likely) benign	1 lab	ef84b68fe0
12:112910837 PTPN11 C>G	12	112910837	112910837	C	G	PTPN11	c.846C>G	NM_002834.5	NP_002825.3:p.(Ile282Met)	NC_000012.11:g.112910837C>G	(Likely) pathogenic	1 lab	257490686b
17:7579312 TP53 C>T	17	7579312	7579312	C	T	TP53	c.375G>A	NM_000546.6	NP_000537.3:p.(Thr125=)	NC_000017.10:g.7579312C>T	(Likely) pathogenic	1 lab	25790b3791
3:38770259 SCN10A C>A	3	38770259	38770259	C	A	SCN10A	c.2414G>T	NM_006514.3	NP_006505.3:p.(Gly805Val)	NC_000003.11:g.38770259C>A	VUS	1 lab	2579b6ff29
15:64332460 MISSING T>C	15	64332460	64332460	T	C	MISSING				NC_000015.9:g.64332460T>C	VUS	1 lab	257d025541
3:53700479 CACNA1D A>C	3	53700479	53700479	A	C	CACNA1D	c.1033A>C	NM_001128840.3	NP_001122312.1:p.(Thr345Pro)	NC_000003.11:g.53700479A>C	VUS	1 lab	25822160d8
2:166170518 SCN2A A>G	2	166170518	166170518	A	G	SCN2A				NC_000002.11:g.166170518A>G	(Likely) pathogenic	1 lab	25856afbc4
19:50143359 RRAS G>A	19	50143359	50143359	G	A	RRAS	c.-4C>T	NM_006270.4	NP_006261.1:p.?	NC_000019.9:g.50143359G>A	(Likely) benign	1 lab	2586bdb39e
5:139494001 PURA C>T	5	139494001	139494001	C	T	PURA	c.235C>T	NM_005859.4	NP_005850.1:p.(Gln79Ter)	NC_000005.9:g.139494001C>T	(Likely) pathogenic	1 lab	25890f3ec2
2:31805675 SRD5A2 A>G	2	31805675	31805675	A	G	SRD5A2	c.281+15T>C	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31805675A>G	(Likely) benign	1 lab	2589c14ed1
7:92147045 PEX1 CTT>C	7	92147045	92147047	CTT	C	PEX1	c.782_783del	NM_000466.3	NP_000457.1:p.(Gln261ArgfsTer8)	NC_000007.13:g.92147046_92147047del	(Likely) pathogenic	1 lab	258e35c032
17:59878678 BRIP1 A>T	17	59878678	59878678	A	T	BRIP1	c.1076T>A	NM_032043.3	NP_114432.2:p.(Ile359Lys)	NC_000017.10:g.59878678A>T	VUS	1 lab	258e61c58f
13:102527562 FGF14 C>T	13	102527562	102527562	C	T	FGF14	c.293G>A	NM_175929.2	NP_787125.1:p.(Gly98Glu)	NC_000013.10:g.102527562C>T	VUS	1 lab	258f73524a
X:10106948 WWC3 G>A	X	10106948	10106948	G	A	WWC3	c.3056G>A	NM_015691.3	NP_056506.2:p.(Arg1019His)	NC_000023.10:g.10106948G>A	(Likely) benign	1 lab	f0058ce04c
17:68171019 KCNJ2 A>ACAGAGTAGT	17	68171019	68171024	A	ACAGAGTAGT	KCNJ2	c.-158_-157insGTAGTCAGA	NM_000891.2	NP_000882.1:p.?	NC_000017.10:g.68171023_68171024insGTAGTCAGA	(Likely) benign	1 lab	259b15e172
10:121431762 BAG3 T>TG	10	121431762	121431763	T	TG	BAG3	c.508-4dup	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121431763dup	(Likely) benign	1 lab	259d1c8b79
6:157528313 ARID1B G>A	6	157528313	157528313	G	A	ARID1B	c.6038G>A	NM_020732.3	NP_065783.3:p.(Trp2013Ter)	NC_000006.11:g.157528313G>A	(Likely) pathogenic	1 lab	25a0756fff
13:20763529 GJB2 GCACACGTTCTTGCAGC>G	13	20763529	20763546	GCACACGTTCTTGCAGC	G	GJB2	c.176_191del	NM_004004.5	NP_003995.2:p.(Gly59AlafsTer18)	NC_000013.10:g.20763531_20763546del	(Likely) pathogenic	1 lab	25a1061d8d
1:236925803 ACTN2 G>GC	1	236925803	236925804	G	GC	ACTN2	c.2569_2570insC	NM_001103.2	NP_001094.1:p.(Asp857AlafsTer83)	NC_000001.10:g.236925803_236925804insC	VUS	1 lab	25a25d1406
1:216073427 USH2A G>A	1	216073427	216073427	G	A	USH2A	c.7584C>T	NM_206933.2	NP_996816.2:p.(Thr2528=)	NC_000001.10:g.216073427G>A	(Likely) benign	1 lab	25a3a6dd46
2:48027455 MSH6 T>G	2	48027455	48027455	T	G	MSH6	c.2333T>G	NM_000179.3	NP_000170.1:p.(Leu778Arg)	NC_000002.11:g.48027455T>G	VUS	1 lab	25a4d637ed
8:145016559 PLEC C>T	8	145016559	145016559	C	T	PLEC	c.194-3699G>A	NM_000445.3	NP_000436.2:p.?	NC_000008.10:g.145016559C>T	(Likely) benign	1 lab	f11e7f9981
5:149313563 PDE6A T>C	5	149313563	149313563	T	C	PDE6A	c.647A>G	NM_000440.2	NP_000431.2:p.(Asn216Ser)	NC_000005.9:g.149313563T>C	(Likely) benign	1 lab	25a6122ade
4:166976380 TLL1 C>T	4	166976380	166976380	C	T	TLL1	c.1677C>T	NM_012464.4	NP_036596.3:p.(Asp559=)	NC_000004.11:g.166976380C>T	(Likely) benign	1 lab	25a66422e9
X:18600005 CDKL5 C>G	X	18600005	18600005	C	G	CDKL5	c.404-6C>G	NM_001037343.1	NP_001032420.1:p.?	NC_000023.10:g.18600005C>G	(Likely) pathogenic	1 lab	25a698988c
20:57429450 GNAS G>T	20	57429450	57429450	G	T	GNAS	c.943G>T	NM_001077490.1	NP_001070958.1:p.(Gly315Cys)	NC_000020.10:g.57429450G>T	VUS	1 lab	f14e7bfac5
1:155161642 MUC1 G>C	1	155161642	155161642	G	C	MUC1	c.186+332C>G	NM_001018016.2	NP_001018016.1:p.?	NC_000001.10:g.155161642G>C	VUS	1 lab	f17ab89987
14:77762571 POMT2 GC>G	14	77762571	77762573	GC	G	POMT2	c.1051del	NM_013382.5	NP_037514.2:p.(Ala351ProfsTer47)	NC_000014.8:g.77762573del	(Likely) pathogenic	1 lab	25ada57dbf
8:143955916 CYP11B1 C>G	8	143955916	143955916	C	G	CYP11B1	c.1399-14G>C	NM_000497.3	NP_000488.3:p.?	NC_000008.10:g.143955916C>G	(Likely) benign	1 lab	25af111cc1
11:2168779 IGF2 G>A	11	2168779	2168779	G	A	IGF2	c.-7+17C>T	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2168779G>A	(Likely) benign	1 lab	f1886e1071
22:38379377 SOX10 C>T	22	38379377	38379377	C	T	SOX10	c.415G>A	NM_006941.4	NP_008872.1:p.(Gly139Ser)	NC_000022.10:g.38379377C>T	(Likely) pathogenic	1 lab	25b2a51486
3:38908894 SCN11A A>C	3	38908894	38908894	A	C	SCN11A	c.3869T>G	NM_014139.2	NP_054858.2:p.(Val1290Gly)	NC_000003.11:g.38908894A>C	(Likely) benign	1 lab	25b5060d9d
9:73946807 TRPM3 G>GGA	9	73946807	73946809	G	GGA	TRPM3	c.183+114761_183+114762insTC	NM_001366141.2	NP_001353070.1:p.?	NC_000009.11:g.73946808_73946809insAG	(Likely) benign	1 lab	f1f38faaa7
2:227917270 COL4A4 T>C	2	227917270	227917270	T	C	COL4A4	c.2861-142A>G	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227917270T>C	(Likely) benign	1 lab	25ba761003
11:108100052 ATM T>G	11	108100052	108100052	T	G	ATM	c.331+2T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108100052T>G	(Likely) pathogenic	1 lab	25bac24750
12:13906342 GRIN2B T>C	12	13906342	13906342	T	C	GRIN2B	c.919A>G	NM_000834.3	NP_000825.2:p.(Met307Val)	NC_000012.11:g.13906342T>C	VUS	1 lab	25be7d556a
1:17087533 MST1L A>T	1	17087533	17087533	A	T	MST1L	c.132T>A	NM_001271733.1	NP_001258662.1:p.(His44Gln)	NC_000001.10:g.17087533A>T	(Likely) benign	1 lab	f2b3ed3716
16:67686244 CARMIL2 T>C	16	67686244	67686244	T	C	CARMIL2	c.2817+2T>C	NM_001013838.2	NP_001013860.1:p.?	NC_000016.9:g.67686244T>C	(Likely) pathogenic	1 lab	25c1110286
6:131915271 MED23 T>C	6	131915271	131915271	T	C	MED23				NC_000006.11:g.131915271T>C	VUS	1 lab	25c36b4f21
13:32889996 BRCA2 C>T	13	32889996	32889996	C	T	BRCA2	c.-40+192C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889996C>T	(Likely) benign	1 lab	25c51d3003
3:14172324 TMEM43 C>G	3	14172324	14172324	C	G	TMEM43	c.165C>G	NM_024334.3	NP_077310.1:p.(Gly55=)	NC_000003.11:g.14172324C>G	(Likely) benign	1 lab	25c6515787
X:107909764 COL4A5 G>A	X	107909764	107909764	G	A	COL4A5	c.3493G>A	NM_033380.3	NP_203699.1:p.(Glu1165Lys)	NC_000023.10:g.107909764G>A	VUS	1 lab	25c99a7f59
11:94211948 MRE11 G>A	11	94211948	94211948	G	A	MRE11	c.497C>T	NM_005591.4	NP_005582.1:p.(Pro166Leu)	NC_000011.9:g.94211948G>A	VUS	1 lab	25ca2cf982
19:41131887 MISSING T>TGC	19	41131887	41131891	T	TGC	MISSING				NC_000019.9:g.41131890_41131891dup	(Likely) pathogenic	1 lab	2a96a442df
8:42317459 SLC20A2 T>C	8	42317459	42317459	T	C	SLC20A2	c.568A>G	NM_006749.4	NP_006740.1:p.(Thr190Ala)	NC_000008.10:g.42317459T>C	VUS	1 lab	25caccc4b8
9:140094420 TPRN C>T	9	140094420	140094420	C	T	TPRN	c.744G>A	NM_001128228.2	NP_001121700.2:p.(Trp248Ter)	NC_000009.11:g.140094420C>T	(Likely) pathogenic	1 lab	25cad4ab7a
2:179396651 TTN CGA>C	2	179396651	179396656	CGA	C	TTN	c.104689_104690del	NM_001267550.2	NP_001254479.2:p.(Ser34897GlufsTer3)	NC_000002.11:g.179396655_179396656del	(Likely) pathogenic	1 lab	25cd16bba5
16:86602401 FOXC2 T>C	16	86602401	86602401	T	C	FOXC2	c.1460T>C	NM_005251.3	NP_005242.1:p.(Leu487Pro)	NC_000016.9:g.86602401T>C	VUS	1 lab	25cf9fb923
4:629751 PDE6B G>A	4	629751	629751	G	A	PDE6B	c.704G>A	NM_000283.3	NP_000274.2:p.(Arg235His)	NC_000004.11:g.629751G>A	VUS	1 lab	25d8a155ca
10:89692908 PTEN C>A	10	89692908	89692908	C	A	PTEN	c.392C>A	NM_000314.4	NP_000305.3:p.(Thr131Asn)	NC_000010.10:g.89692908C>A	(Likely) pathogenic	1 lab	25d9a8f643
8:38003644 STAR C>G	8	38003644	38003644	C	G	STAR	c.487G>C	NM_000349.2	NP_000340.2:p.(Asp163His)	NC_000008.10:g.38003644C>G	VUS	1 lab	25d9c547ef
2:166900214 SCN1A C>G	2	166900214	166900214	C	G	SCN1A	c.2008G>C	NM_001165963.3	NP_001159435.1:p.(Glu670Gln)	NC_000002.11:g.166900214C>G	(Likely) benign	1 lab	030f2cce37
9:138675877 KCNT1 G>A	9	138675877	138675877	G	A	KCNT1	c.2849G>A	NM_020822.2	NP_065873.2:p.(Arg950Gln)	NC_000009.11:g.138675877G>A	(Likely) pathogenic	1 lab	25da122698
X:140335658 SPANXC C>T	X	140335658	140335658	C	T	SPANXC	c.286G>A	NM_022661.2	NP_073152.1:p.(Ala96Thr)	NC_000023.10:g.140335658C>T	VUS	1 lab	f34defc554
12:13761592 GRIN2B G>T	12	13761592	13761592	G	T	GRIN2B	c.1955C>A	NM_000834.3	NP_000825.2:p.(Ala652Asp)	NC_000012.11:g.13761592G>T	VUS	1 lab	25e197688d
1:228471395 OBSCN C>G	1	228471395	228471395	C	G	OBSCN	c.10216C>G	NM_001271223.2	NP_001258152.2:p.(Leu3406Val)	NC_000001.10:g.228471395C>G	(Likely) benign	1 lab	25e26edeea
5:127666303 FBN2 C>T	5	127666303	127666303	C	T	FBN2	c.4307G>A	NM_001999.3	NP_001990.2:p.(Cys1436Tyr)	NC_000005.9:g.127666303C>T	(Likely) pathogenic	1 lab	25e2fe76ea
2:167001637 SCN1A C>T	2	167001637	167001637	C	T	SCN1A	c.-142+3920G>A	NM_001202435.1	NP_001189364.1:p.?	NC_000002.11:g.167001637C>T	(Likely) benign	1 lab	f35ebf4ed9
22:22975060 POM121L1P T>C	22	22975060	22975060	T	C	POM121L1P	n.2972-9A>G	NR_024591.1		NC_000022.10:g.22975060T>C	VUS	1 lab	f38ed183f3
13:20763039 GJB2 G>A	13	20763039	20763039	G	A	GJB2	c.*1C>T	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20763039G>A	(Likely) benign	1 lab	25e99dd2a2
7:154379556 MISSING A>G	7	154379556	154379556	A	G	MISSING				NC_000007.13:g.154379556A>G	(Likely) benign	1 lab	26f29fd264
20:36030098 SRC C>A	20	36030098	36030098	C	A	SRC	c.1116+17C>A	NM_005417.4	NP_005408.1:p.?	NC_000020.10:g.36030098C>A	(Likely) benign	1 lab	03100c5eb5
12:56087144 ITGA7 CT>C	12	56087144	56087160	CT	C	ITGA7	c.2536-44del	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56087160del	(Likely) benign	1 lab	031169424c
9:35685526 TPM2 G>A	9	35685526	35685526	G	A	TPM2	c.397C>T	NM_003289.3	NP_003280.2:p.(Arg133Trp)	NC_000009.11:g.35685526G>A	(Likely) pathogenic	1 lab	25ed4eb36f
17:44249037 KANSL1 GCCAAC>G	17	44249037	44249045	GCCAAC	G	KANSL1	c.468_472del	NM_015443.4	NP_056258.1:p.(Leu157Ter)	NC_000017.10:g.44249041_44249045del	(Likely) pathogenic	1 lab	25f25c9f06
12:57905490 MARS1 C>T	12	57905490	57905490	C	T	MARS1	c.1378C>T	NM_004990.3	NP_004981.2:p.(Arg460Ter)	NC_000012.11:g.57905490C>T	VUS	1 lab	25f2d52917
19:55447772 NLRP7 C>T	19	55447772	55447772	C	T	NLRP7	c.2157G>A	NM_001127255.1	NP_001120727.1:p.(Ala719=)	NC_000019.9:g.55447772C>T	(Likely) benign	1 lab	0314e55235
7:116552143 CAPZA2 T>G	7	116552143	116552143	T	G	CAPZA2	c.606T>G	NM_006136.3	NP_006127.1:p.(Gly202=)	NC_000007.13:g.116552143T>G	(Likely) benign	1 lab	031793a23e
2:73675019 ALMS1 CT>C	2	73675019	73675026	CT	C	ALMS1	c.1433-64del	NM_001378454.1	NP_001365383.1:p.?	NC_000002.11:g.73675026del	(Likely) benign	1 lab	0318175ee7
11:2909504 SLC67A1-AS T>G	11	2909504	2909504	T	G	SLC67A1-AS	n.1000A>C	NR_169304.1		NC_000011.9:g.2909504T>G	(Likely) benign	1 lab	f3f8684f4e
16:81157361 PKD1L2 A>G	16	81157361	81157361	A	G	PKD1L2	c.4324T>C	NM_001278425.1	NP_001265354.1:p.(Trp1442Arg)	NC_000016.9:g.81157361A>G	VUS	1 lab	f40a8bd7fe
1:6271953 RNF207 C>T	1	6271953	6271953	C	T	RNF207	c.1136C>T	NM_207396.3	NP_997279.2:p.(Ala379Val)	NC_000001.10:g.6271953C>T	(Likely) benign	1 lab	031985b95b
1:149898363 SF3B4 GC>G	1	149898363	149898365	GC	G	SF3B4	c.610del	NM_005850.5	NP_005841.1:p.(Ala204LeufsTer116)	NC_000001.10:g.149898365del	(Likely) pathogenic	1 lab	26082a609b
17:1554577 PRPF8 C>T	17	1554577	1554577	C	T	PRPF8	c.6678G>A	NM_006445.4	NP_006436.3:p.(Thr2226=)	NC_000017.10:g.1554577C>T	(Likely) benign	1 lab	260b3707a4
13:32914177 BRCA2 G>C	13	32914177	32914177	G	C	BRCA2	c.5685G>C	NM_000059.4	NP_000050.3:p.(Glu1895Asp)	NC_000013.10:g.32914177G>C	VUS	1 lab	260dbdfcac
12:52093398 SCN8A C>T	12	52093398	52093398	C	T	SCN8A	c.751C>T	NM_014191.3	NP_055006.1:p.(Leu251=)	NC_000012.11:g.52093398C>T	(Likely) benign	1 lab	260e06048b
9:127265394 NR5A1 A>G	9	127265394	127265394	A	G	NR5A1				NC_000009.11:g.127265394A>G	VUS	1 lab	260f37181a
X:152939483 PNCK C>G	X	152939483	152939483	C	G	PNCK	c.148G>C	NM_001039582.3	NP_001034671.3:p.(Gly50Arg)	NC_000023.10:g.152939483C>G	(Likely) benign	1 lab	f453895e6e
20:57428366 GNAS C>T	20	57428366	57428366	C	T	GNAS	c.-142C>T	NM_001077490.1	NP_001070958.1:p.?	NC_000020.10:g.57428366C>T	(Likely) benign	1 lab	f4bb2f738e
1:228461973 OBSCN A>G	1	228461973	228461973	A	G	OBSCN	c.6636A>G	NM_001271223.2	NP_001258152.2:p.(Ala2212=)	NC_000001.10:g.228461973A>G	(Likely) benign	1 lab	26193ab563
17:29557540 NF1 T>G	17	29557540	29557540	T	G	NF1	c.3113+140T>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29557540T>G	VUS	1 lab	2621c588a4
2:10959431 PDIA6 C>T	2	10959431	10959431	C	T	PDIA6	c.144G>A	NM_001282704.1	NP_001269633.1:p.(Met48Ile)	NC_000002.11:g.10959431C>T	VUS	1 lab	f506217961
17:18035812 MYO15A G>A	17	18035812	18035812	G	A	MYO15A	c.4252G>A	NM_016239.3	NP_057323.3:p.(Gly1418Arg)	NC_000017.10:g.18035812G>A	VUS	1 lab	262b7145a8
5:176734136 MXD3 A>G	5	176734136	176734136	A	G	MXD3	c.566T>C	NM_001142935.1	NP_001136407.1:p.(Ile189Thr)	NC_000005.9:g.176734136A>G	(Likely) benign	1 lab	f5e372b620
14:20943361 PNP A>G	14	20943361	20943361	A	G	PNP	c.602A>G	NM_000270.3	NP_000261.2:p.(Glu201Gly)	NC_000014.8:g.20943361A>G	(Likely) pathogenic	1 lab	262c385afe
2:216296537 FN1 A>G	2	216296537	216296537	A	G	FN1	c.547+19T>C	NM_212482.1	NP_997647.1:p.?	NC_000002.11:g.216296537A>G	(Likely) benign	1 lab	262e0688fc
6:47626776 ADGRF2P A>G	6	47626776	47626776	A	G	ADGRF2P	n.188+2381A>G	NR_184444.1		NC_000006.11:g.47626776A>G	VUS	1 lab	f672b50984
8:72127730 EYA1 T>C	8	72127730	72127730	T	C	EYA1	c.1489A>G	NM_172058.3	NP_742055.1:p.(Asn497Asp)	NC_000008.10:g.72127730T>C	VUS	1 lab	26303182f2
X:132826449 GPC3 G>A	X	132826449	132826449	G	A	GPC3	c.1240C>T	NM_004484.3	NP_004475.1:p.(Pro414Ser)	NC_000023.10:g.132826449G>A	VUS	1 lab	26316d33d1
1:196709838 CFH A>G	1	196709838	196709838	A	G	CFH	c.2872A>G	NM_000186.3	NP_000177.2:p.(Lys958Glu)	NC_000001.10:g.196709838A>G	VUS	1 lab	2631b997e9
15:51000046 SPPL2A G>A	15	51000046	51000046	G	A	SPPL2A	c.1514C>T	NM_032802.4	NP_116191.2:p.(Thr505Ile)	NC_000015.9:g.51000046G>A	(Likely) benign	1 lab	03199ab9be
9:35067912 VCP C>T	9	35067912	35067912	C	T	VCP	c.278G>A	NM_007126.3	NP_009057.1:p.(Arg93His)	NC_000009.11:g.35067912C>T	VUS	1 lab	2633f22833
X:153670926 GDI1 C>G	X	153670926	153670926	C	G	GDI1	c.1251C>G	NM_001493.2	NP_001484.1:p.(Ile417Met)	NC_000023.10:g.153670926C>G	VUS	1 lab	263805fddc
2:179437025 TTN TCA>T	2	179437025	179437029	TCA	T	TTN	c.73832_73833del	NM_001267550.2	NP_001254479.2:p.(Val24611GlufsTer21)	NC_000002.11:g.179437028_179437029del	(Likely) pathogenic	1 lab	031b5b8ab8
X:153663684 ATP6AP1 G>A	X	153663684	153663684	G	A	ATP6AP1	c.1036G>A	NM_001183.5	NP_001174.2:p.(Glu346Lys)	NC_000023.10:g.153663684G>A	(Likely) pathogenic	1 lab	263f0af7b9
7:149519006 SSPOP AG>A	7	149519006	149519008	AG	A	SSPOP	n.12910del	NR_163594.1		NC_000007.13:g.149519008del	VUS	1 lab	f70be068a3
17:7813797 CHD3 G>T	17	7813797	7813797	G	T	CHD3	c.5642G>T	NM_001005273.3	NP_001005273.1:p.(Arg1881Leu)	NC_000017.10:g.7813797G>T	(Likely) pathogenic	1 lab	2641eba27f
9:35658019 CCDC107 T>C	9	35658019	35658019	T	C	CCDC107				NC_000009.11:g.35658019T>C	(Likely) benign	1 lab	2644a41cba
2:45169851 SIX3 T>C	2	45169851	45169851	T	C	SIX3	c.608T>C	NM_005413.3	NP_005404.1:p.(Ile203Thr)	NC_000002.11:g.45169851T>C	VUS	1 lab	26455771ab
12:98927147 TMPO C>T	12	98927147	98927147	C	T	TMPO	c.1112C>T	NM_003276.2	NP_003267.1:p.(Pro371Leu)	NC_000012.11:g.98927147C>T	VUS	1 lab	264653d7bb
16:23647419 PALB2 G>A	16	23647419	23647419	G	A	PALB2	c.448C>T	NM_024675.3	NP_078951.2:p.(Gln150Ter)	NC_000016.9:g.23647419G>A	(Likely) pathogenic	1 lab	2648e62a1d
7:158734844 DYNC2I1 G>C	7	158734844	158734844	G	C	DYNC2I1	c.3002+5G>C	NM_018051.4	NP_060521.4:p.?	NC_000007.13:g.158734844G>C	(Likely) pathogenic	1 lab	264cb195ee
1:3328376 PRDM16 CT>C	1	3328376	3328377	CT	C	PRDM16	c.1616del	NM_022114.3	NP_071397.3:p.(Leu539ArgfsTer53)	NC_000001.10:g.3328377del	VUS	1 lab	264d2a0b43
15:72104297 NR2E3 G>A	15	72104297	72104297	G	A	NR2E3	c.352G>A	NM_014249.2	NP_055064.1:p.(Val118Met)	NC_000015.9:g.72104297G>A	VUS	1 lab	264f8661c9
7:149480714 SSPOP G>C	7	149480714	149480714	G	C	SSPOP	n.2429G>C	NR_163594.1		NC_000007.13:g.149480714G>C	VUS	1 lab	f7e4e2e103
11:792205 SLC25A22 C>T	11	792205	792205	C	T	SLC25A22	c.755G>A	NM_024698.5	NP_078974.1:p.(Arg252Gln)	NC_000011.9:g.792205C>T	VUS	1 lab	2652726923
19:36275147 ARHGAP33 G>A	19	36275147	36275147	G	A	ARHGAP33	c.1495G>A	NM_052948.3	NP_443180.2:p.(Val499Met)	NC_000019.9:g.36275147G>A	VUS	1 lab	26562a67a7
7:6043675 PMS2 C>T	7	6043675	6043675	C	T	PMS2	c.178G>A	NM_000535.7	NP_000526.2:p.(Asp60Asn)	NC_000007.13:g.6043675C>T	VUS	1 lab	e694bbd5a1
5:112175945 APC G>T	5	112175945	112175945	G	T	APC	c.4654G>T	NM_000038.5	NP_000029.2:p.(Glu1552Ter)	NC_000005.9:g.112175945G>T	(Likely) pathogenic	1 lab	26578f3cd0
X:44949172 KDM6A A>C	X	44949172	44949172	A	C	KDM6A	c.3889A>C	NM_001291415.2	NP_001278344.1:p.(Thr1297Pro)	NC_000023.10:g.44949172A>C	(Likely) pathogenic	1 lab	265ba74a30
17:78079632 GAA G>A	17	78079632	78079632	G	A	GAA	c.631G>A	NM_000152.3	NP_000143.2:p.(Val211Met)	NC_000017.10:g.78079632G>A	(Likely) benign	1 lab	265faa9a65
3:38592350 SCN5A A>G	3	38592350	38592350	A	G	SCN5A	c.5513T>C	NM_001099404.1	NP_001092874.1:p.(Met1838Thr)	NC_000003.11:g.38592350A>G	VUS	1 lab	265feb2662
X:38150284 RPGR T>C	X	38150284	38150284	T	C	RPGR	c.1507-7A>G	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38150284T>C	(Likely) benign	1 lab	2661e53447
17:29679354 NF1 C>T	17	29679354	29679354	C	T	NF1	c.7537C>T	NM_001042492.3	NP_001035957.1:p.(Gln2513Ter)	NC_000017.10:g.29679354C>T	(Likely) pathogenic	1 lab	2663000b38
2:55864698 PNPT1 G>T	2	55864698	55864698	G	T	PNPT1	c.2185C>A	NM_033109.4	NP_149100.2:p.(Gln729Lys)	NC_000002.11:g.55864698G>T	VUS	1 lab	26639f25f8
10:102783745 PDZD7 C>T	10	102783745	102783745	C	T	PDZD7	c.307G>A	NM_001195263.1	NP_001182192.1:p.(Gly103Arg)	NC_000010.10:g.102783745C>T	VUS	1 lab	2667472309
16:56927219 SLC12A3 C>T	16	56927219	56927219	C	T	SLC12A3	c.2548+253C>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56927219C>T	(Likely) pathogenic	1 lab	266b668d44
10:123274794 FGFR2 T>C	10	123274794	123274794	T	C	FGFR2	c.1124A>G	NM_000141.5	NP_000132.3:p.(Tyr375Cys)	NC_000010.10:g.123274794T>C	(Likely) pathogenic	1 lab	266d3c3b45
3:186943232 MASP1 G>A	3	186943232	186943232	G	A	MASP1	c.1621C>T	NM_001879.5	NP_001870.3:p.(His541Tyr)	NC_000003.11:g.186943232G>A	VUS	1 lab	f838e27495
3:133475812 TF G>A	3	133475812	133475812	G	A	TF	c.829G>A	NM_001063.3	NP_001054.1:p.(Gly277Ser)	NC_000003.11:g.133475812G>A	(Likely) benign	1 lab	266fccd260
4:111542234 PITX2 C>T	4	111542234	111542234	C	T	PITX2	c.411+86G>A	NM_000325.5	NP_000316.2:p.?	NC_000004.11:g.111542234C>T	(Likely) benign	1 lab	26720d3540
2:241813453 AGXT G>A	2	241813453	241813453	G	A	AGXT	c.654G>A	NM_000030.3	NP_000021.1:p.(Ser218=)	NC_000002.11:g.241813453G>A	(Likely) benign	1 lab	2673c91313
3:38912950 SCN11A C>T	3	38912950	38912950	C	T	SCN11A	c.3745G>A	NM_014139.2	NP_054858.2:p.(Ala1249Thr)	NC_000003.11:g.38912950C>T	(Likely) pathogenic	1 lab	267675cb77
5:251450 SDHA C>A	5	251450	251450	C	A	SDHA	c.1664-3C>A	NM_004168.3	NP_004159.2:p.?	NC_000005.9:g.251450C>A	VUS	1 lab	2676a77bd3
2:223096795 PAX3 A>T	2	223096795	223096795	A	T	PAX3				NC_000002.11:g.223096795A>T	(Likely) pathogenic	1 lab	28d3108603
6:108243124 SEC63 A>G	6	108243124	108243124	A	G	SEC63	c.340-11T>C	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108243124A>G	(Likely) benign	1 lab	267976959c
5:1878454 IRX4 G>A	5	1878454	1878454	G	A	IRX4	c.1267C>T	NM_001278635.1	NP_001265564.1:p.(Arg423Cys)	NC_000005.9:g.1878454G>A	(Likely) benign	1 lab	267eaec8e9
12:89885848 POC1B C>G	12	89885848	89885848	C	G	POC1B	c.317G>C	NM_172240.2	NP_758440.1:p.(Arg106Pro)	NC_000012.11:g.89885848C>G	(Likely) pathogenic	1 lab	268097792c
22:21344786 LZTR1 C>T	22	21344786	21344786	C	T	LZTR1	c.763C>T	NM_006767.4	NP_006758.2:p.(Leu255Phe)	NC_000022.10:g.21344786C>T	(Likely) pathogenic	1 lab	2680b0c046
14:69347558 ACTN1 A>G	14	69347558	69347558	A	G	ACTN1	c.2102T>C	NM_001130004.1	NP_001123476.1:p.(Phe701Ser)	NC_000014.8:g.69347558A>G	VUS	1 lab	26889435a7
2:96931178 TMEM127 G>A	2	96931178	96931178	G	A	TMEM127	c.-59C>T	NM_017849.3	NP_060319.1:p.?	NC_000002.11:g.96931178G>A	(Likely) benign	1 lab	268995fee8
12:93226364 EEA1 G>A	12	93226364	93226364	G	A	EEA1	c.1178C>T	NM_003566.3	NP_003557.2:p.(Ala393Val)	NC_000012.11:g.93226364G>A	VUS	1 lab	2689cf21d6
14:65259581 SPTB G>T	14	65259581	65259581	G	T	SPTB	c.2666+134C>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65259581G>T	(Likely) benign	1 lab	0323827cd3
2:73613032 MISSING G>GGGAGGAGGA	2	73613032	73613034	G	GGGAGGAGGA	MISSING				NC_000002.11:g.73613033_73613034insGAGGAGGAG	(Likely) benign	1 lab	26908428dd
2:179579204 TTN G>T	2	179579204	179579204	G	T	TTN	c.26297C>A	NM_001267550.2	NP_001254479.2:p.(Ser8766Ter)	NC_000002.11:g.179579204G>T	VUS	1 lab	26915d6412
X:152990722 ABCD1 A>G	X	152990722	152990722	A	G	ABCD1	c.1A>G	NM_000033.4	NP_000024.2:p.(Met1?)	NC_000023.10:g.152990722A>G	(Likely) pathogenic	1 lab	26919490bd
22:41513694 EP300 C>T	22	41513694	41513694	C	T	EP300	c.598C>T	NM_001429.3	NP_001420.2:p.(Arg200Ter)	NC_000022.10:g.41513694C>T	(Likely) pathogenic	1 lab	26934578df
5:175528588 FAM153B C>T	5	175528588	175528588	C	T	FAM153B	n.1199+4C>T	NR_169299.1		NC_000005.9:g.175528588C>T	(Likely) benign	1 lab	f8572d4fe5
14:102452376 DYNC1H1 A>G	14	102452376	102452376	A	G	DYNC1H1	c.1814A>G	NM_001376.4	NP_001367.2:p.(Gln605Arg)	NC_000014.8:g.102452376A>G	(Likely) pathogenic	1 lab	2698295a6f
8:56982242 RPS20 G>C	8	56982242	56982242	G	C	RPS20	c.*35+20C>G	NM_001146227.1	NP_001139699.1:p.?	NC_000008.10:g.56982242G>C	VUS	1 lab	f8f244d1de
9:14748544 FREM1 G>T	9	14748544	14748544	G	T	FREM1				NC_000009.11:g.14748544G>T	(Likely) benign	1 lab	293262fb36
4:159790474 FNIP2 G>A	4	159790474	159790474	G	A	FNIP2	c.2686G>A	NM_020840.1	NP_065891.1:p.(Ala896Thr)	NC_000004.11:g.159790474G>A	(Likely) benign	1 lab	269a2e097a
8:118540968 MED30 TC>T	8	118540968	118540969	TC	T	MED30	c.257del	NM_080651.3	NP_542382.1:p.(Ser86Ter)	NC_000008.10:g.118540969del	VUS	1 lab	269c990b84
1:229568741 ACTA1 C>A	1	229568741	229568741	C	A	ACTA1	c.122G>T	NM_001100.4	NP_001091.1:p.(Arg41Leu)	NC_000001.10:g.229568741C>A	(Likely) pathogenic	1 lab	269f6fd254
3:38592020 SCN5A A>G	3	38592020	38592020	A	G	SCN5A	c.5843T>C	NM_198056.2	NP_932173.1:p.(Ile1948Thr)	NC_000003.11:g.38592020A>G	VUS	1 lab	26a0b6b5a8
11:3691120 CHRNA10 A>G	11	3691120	3691120	A	G	CHRNA10	c.113T>C	NM_020402.4	NP_065135.2:p.(Phe38Ser)	NC_000011.9:g.3691120A>G	VUS	1 lab	26a4dfdfea
1:156105115 LMNA C>T	1	156105115	156105115	C	T	LMNA	c.936+12C>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105115C>T	(Likely) benign	1 lab	26a72df7db
3:71037140 FOXP1 C>T	3	71037140	71037140	C	T	FOXP1	c.1146+5G>A	NM_032682.5	NP_116071.2:p.?	NC_000003.11:g.71037140C>T	(Likely) pathogenic	1 lab	26ae308133
18:53303100 TCF4 G>A	18	53303100	53303100	G	A	TCF4	c.29C>T	NM_001243226.1	NP_001230155.1:p.(Ala10Val)	NC_000018.9:g.53303100G>A	VUS	1 lab	fb191cc961
19:11097620 SMARCA4 G>T	19	11097620	11097620	G	T	SMARCA4	c.800G>T	NM_001128849.1	NP_001122321.1:p.(Gly267Val)	NC_000019.9:g.11097620G>T	VUS	1 lab	26b82c597d
3:58064511 FLNB GC>G	3	58064511	58064512	GC	G	FLNB	c.610del	NM_001457.4	NP_001448.2:p.(Gln204ArgfsTer28)	NC_000003.11:g.58064512del	VUS	1 lab	26b8c64382
18:29104798 DSG2 T>A	18	29104798	29104798	T	A	DSG2	c.961T>A	NM_001943.5	NP_001934.2:p.(Phe321Ile)	NC_000018.9:g.29104798T>A	VUS	1 lab	26bb738ee6
11:34938001 PDHX A>G	11	34938001	34938001	A	G	PDHX	c.83A>G	NM_001135024.1	NP_001128496.1:p.(Glu28Gly)	NC_000011.9:g.34938001A>G	(Likely) benign	1 lab	fb2ca7d143
6:7583632 DSP T>G	6	7583632	7583632	T	G	DSP	c.6137T>G	NM_004415.3	NP_004406.2:p.(Val2046Gly)	NC_000006.11:g.7583632T>G	VUS	1 lab	26c1bd2632
13:32889604 BRCA2 C>T	13	32889604	32889604	C	T	BRCA2				NC_000013.10:g.32889604C>T	(Likely) benign	1 lab	26c1ee1316
4:159616703 ETFDH G>C	4	159616703	159616703	G	C	ETFDH	c.739G>C	NM_004453.4	NP_004444.2:p.(Gly247Arg)	NC_000004.11:g.159616703G>C	VUS	1 lab	26c5797b9e
2:220286186 DES G>A	2	220286186	220286186	G	A	DES	c.1148G>A	NM_001927.4	NP_001918.3:p.(Arg383His)	NC_000002.11:g.220286186G>A	VUS	1 lab	26cad65046
19:6714348 C3 A>G	19	6714348	6714348	A	G	C3	c.599+15T>C	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6714348A>G	(Likely) benign	1 lab	26ccd03c6b
15:26812868 GABRB3 C>T	15	26812868	26812868	C	T	GABRB3	c.695G>A	NM_000814.6	NP_000805.1:p.(Arg232Gln)	NC_000015.9:g.26812868C>T	(Likely) pathogenic	1 lab	26d3664ac9
12:48377464 COL2A1 A>T	12	48377464	48377464	A	T	COL2A1	c.1995+2T>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48377464A>T	(Likely) pathogenic	1 lab	26d4e65a99
2:113885270 IL1RN G>A	2	113885270	113885270	G	A	IL1RN	c.78G>A	NM_173841.2	NP_776213.1:p.(Thr26=)	NC_000002.11:g.113885270G>A	(Likely) benign	1 lab	032ad28b97
2:39241979 SOS1 A>T	2	39241979	39241979	A	T	SOS1	c.1867T>A	NM_005633.3	NP_005624.2:p.(Phe623Ile)	NC_000002.11:g.39241979A>T	(Likely) pathogenic	1 lab	26d8e6873e
7:144099032 NOBOX A>T	7	144099032	144099032	A	T	NOBOX	c.222T>A	NM_001080413.3	NP_001073882.3:p.(Asp74Glu)	NC_000007.13:g.144099032A>T	VUS	1 lab	fbc85702ab
11:62402373 GANAB T>C	11	62402373	62402373	T	C	GANAB	c.480A>G	NM_198335.4	NP_938149.2:p.(Leu160=)	NC_000011.9:g.62402373T>C	(Likely) benign	1 lab	26e24986b9
5:112175720 APC C>T	5	112175720	112175720	C	T	APC	c.4429C>T	NM_000038.6	NP_000029.2:p.(Gln1477Ter)	NC_000005.9:g.112175720C>T	(Likely) pathogenic	1 lab	26e2e6527b
17:41201197 BRCA1 T>G	17	41201197	41201197	T	G	BRCA1	c.5347A>C	NM_007294.3	NP_009225.1:p.(Met1783Leu)	NC_000017.10:g.41201197T>G	(Likely) benign	1 lab	26e577f175
2:179482088 TTN A>G	2	179482088	179482088	A	G	TTN	c.47724T>C	NM_001267550.2	NP_001254479.2:p.(Arg15908=)	NC_000002.11:g.179482088A>G	(Likely) benign	1 lab	26e6c31f37
19:50752287 MYH14 G>A	19	50752287	50752287	G	A	MYH14				NC_000019.9:g.50752287G>A	VUS	1 lab	26e7324e6e
X:119565336 LAMP2 C>T	X	119565336	119565336	C	T	LAMP2	c.1094-19G>A	NM_002294.2	NP_002285.1:p.?	NC_000023.10:g.119565336C>T	(Likely) benign	1 lab	26e86f352f
2:220421456 OBSL1 C>A	2	220421456	220421456	C	A	OBSL1				NC_000002.11:g.220421456C>A	(Likely) benign	1 lab	e8685bffb4
12:103306620 PAH G>C	12	103306620	103306620	G	C	PAH	c.117C>G	NM_000277.3	NP_000268.1:p.(Phe39Leu)	NC_000012.11:g.103306620G>C	(Likely) pathogenic	1 lab	26e9356143
13:78493695 EDNRB A>T	13	78493695	78493695	A	T	EDNRB	c.-51-936T>A	NM_000115.3	NP_000106.1:p.?	NC_000013.10:g.78493695A>T	VUS	1 lab	fc9b5e0a56
7:72418954 POM121 C>G	7	72418954	72418954	C	G	POM121	c.2945C>G	NM_001257190.2	NP_001244119.1:p.(Ala982Gly)	NC_000007.13:g.72418954C>G	(Likely) benign	1 lab	fdc6e410a6
17:4836673 GP1BA C>T	17	4836673	4836673	C	T	GP1BA	c.774C>T	NM_000173.6	NP_000164.5:p.(Asn258=)	NC_000017.10:g.4836673C>T	(Likely) benign	1 lab	26f6d5fa09
20:42744877 JPH2 G>C	20	42744877	42744877	G	C	JPH2	c.1438C>G	NM_020433.4	NP_065166.2:p.(Pro480Ala)	NC_000020.10:g.42744877G>C	(Likely) benign	1 lab	26fa158505
X:8503774 ANOS1 C>T	X	8503774	8503774	C	T	ANOS1	c.1700G>A	NM_000216.2	NP_000207.2:p.(Gly567Asp)	NC_000023.10:g.8503774C>T	(Likely) pathogenic	1 lab	26fb1e6f2e
12:23689532 SOX5 G>A	12	23689532	23689532	G	A	SOX5	c.1843C>T	NM_006940.6	NP_008871.3:p.(Gln615Ter)	NC_000012.11:g.23689532G>A	(Likely) pathogenic	1 lab	26fb546f82
6:7583339 DSP G>C	6	7583339	7583339	G	C	DSP	c.5844G>C	NM_004415.3	NP_004406.2:p.(Gly1948=)	NC_000006.11:g.7583339G>C	(Likely) benign	1 lab	26ff875965
6:33388095 SYNGAP1 TG>T	6	33388095	33388096	TG	T	SYNGAP1	c.55del	NM_006772.3	NP_006763.2:p.(Ala19ProfsTer50)	NC_000006.11:g.33388096del	(Likely) pathogenic	1 lab	2702b1d5b1
16:1496613 CLCN7 T>C	16	1496613	1496613	T	C	CLCN7	c.*19A>G	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1496613T>C	(Likely) benign	1 lab	2702d85f93
6:76623819 MYO6 G>A	6	76623819	76623819	G	A	MYO6	c.3479G>A	NM_004999.4	NP_004990.3:p.(Arg1160Gln)	NC_000006.11:g.76623819G>A	(Likely) benign	1 lab	27050bc02b
16:68855940 CDH1 T>G	16	68855940	68855940	T	G	CDH1	c.1748T>G	NM_004360.3	NP_004351.1:p.(Leu583Arg)	NC_000016.9:g.68855940T>G	(Likely) pathogenic	1 lab	2705676621
1:16255007 SPEN C>T	1	16255007	16255007	C	T	SPEN	c.2272C>T	NM_015001.3	NP_055816.2:p.(Arg758Ter)	NC_000001.10:g.16255007C>T	(Likely) pathogenic	1 lab	2706788c82
18:31324490 ASXL3 C>T	18	31324490	31324490	C	T	ASXL3	c.4678C>T	NM_030632.1	NP_085135.1:p.(Arg1560Ter)	NC_000018.9:g.31324490C>T	(Likely) pathogenic	1 lab	2707b49d5d
2:227896660 COL4A4 C>A	2	227896660	227896660	C	A	COL4A4	c.3817+1G>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227896660C>A	(Likely) pathogenic	1 lab	2707cb35eb
2:48028114 MSH6 T>A	2	48028114	48028114	T	A	MSH6	c.2992T>A	NM_000179.3	NP_000170.1:p.(Ser998Thr)	NC_000002.11:g.48028114T>A	VUS	1 lab	270a2c0971
16:14678281 PARN T>C	16	14678281	14678281	T	C	PARN	c.1006-2A>G	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14678281T>C	(Likely) pathogenic	1 lab	032d03c9d7
3:129284327 MISSING G>T	3	129284327	129284327	G	T	MISSING				NC_000003.11:g.129284327G>T	VUS	1 lab	2a1f279dab
3:38888595 SCN11A G>A	3	38888595	38888595	G	A	SCN11A	c.4966C>T	NM_001349253.2	NP_001336182.1:p.(Pro1656Ser)	NC_000003.11:g.38888595G>A	VUS	1 lab	270c320821
11:76867138 MYO7A G>A	11	76867138	76867138	G	A	MYO7A	c.470+1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76867138G>A	(Likely) pathogenic	1 lab	2710152567
17:7918713 GUCY2D C>T	17	7918713	7918713	C	T	GUCY2D	c.2837C>T	NM_000180.4	NP_000171.1:p.(Ala946Val)	NC_000017.10:g.7918713C>T	VUS	1 lab	2713d10a82
16:56921894 SLC12A3 T>C	16	56921894	56921894	T	C	SLC12A3	c.2236T>C	NM_001126108.2	NP_001119580.2:p.(Trp746Arg)	NC_000016.9:g.56921894T>C	VUS	1 lab	2715b59390
11:19209792 CSRP3 A>C	11	19209792	19209792	A	C	CSRP3	c.172T>G	NM_003476.4	NP_003467.1:p.(Cys58Gly)	NC_000011.9:g.19209792A>C	(Likely) pathogenic	1 lab	27180c035e
3:132403562 NPHP3 G>A	3	132403562	132403562	G	A	NPHP3	c.3406C>T	NM_153240.4	NP_694972.3:p.(Gln1136Ter)	NC_000003.11:g.132403562G>A	(Likely) pathogenic	1 lab	2719614efd
16:81236170 PKD1L2 C>T	16	81236170	81236170	C	T	PKD1L2	c.1078G>A	NM_001076780.1	NP_001070248.1:p.(Gly360Ser)	NC_000016.9:g.81236170C>T	(Likely) benign	1 lab	02d5f12e63
19:35524716 SCN1B T>C	19	35524716	35524716	T	C	SCN1B	c.521T>C	NM_199037.4	NP_950238.1:p.(Val174Ala)	NC_000019.9:g.35524716T>C	(Likely) benign	1 lab	271f68f6ea
8:90982657 NBN GT>G	8	90982657	90982660	GT	G	NBN	c.830del	NM_002485.4	NP_002476.2:p.(Asn277ThrfsTer5)	NC_000008.10:g.90982660del	(Likely) pathogenic	1 lab	27240bd243
X:107849932 COL4A5 A>G	X	107849932	107849932	A	G	COL4A5	c.2245-40A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107849932A>G	(Likely) pathogenic	1 lab	2724aa382c
1:201018210 CACNA1S A>G	1	201018210	201018210	A	G	CACNA1S	c.4259T>C	NM_000069.3	NP_000060.2:p.(Leu1420Pro)	NC_000001.10:g.201018210A>G	VUS	1 lab	2725053915
6:32008317 CYP21A2 C>T	6	32008317	32008317	C	T	CYP21A2	c.1074C>T	NM_000500.7	NP_000491.4:p.(Pro358=)	NC_000006.11:g.32008317C>T	(Likely) benign	1 lab	2725815a04
X:152027360 NSDHL C>T	X	152027360	152027360	C	T	NSDHL	c.314C>T	NM_015922.3	NP_057006.1:p.(Ala105Val)	NC_000023.10:g.152027360C>T	(Likely) pathogenic	1 lab	2725b7bac6
10:88439874 LDB3 C>T	10	88439874	88439874	C	T	LDB3	c.281C>T	NM_001171610.2	NP_001165081.1:p.(Pro94Leu)	NC_000010.10:g.88439874C>T	VUS	1 lab	03334f40a9
6:129419329 LAMA2 C>G	6	129419329	129419329	C	G	LAMA2	c.408C>G	NM_000426.3	NP_000417.2:p.(Ile136Met)	NC_000006.11:g.129419329C>G	VUS	1 lab	272a6a7459
4:111553493 PITX2 C>T	4	111553493	111553493	C	T	PITX2	c.184+6G>A	NM_001204397.1	NP_001191326.1:p.?	NC_000004.11:g.111553493C>T	(Likely) benign	1 lab	03460f77d1
13:32911207 BRCA2 T>TA	13	32911207	32911208	T	TA	BRCA2	c.2716dup	NM_000059.4	NP_000050.3:p.(Thr906AsnfsTer2)	NC_000013.10:g.32911208dup	(Likely) pathogenic	1 lab	272d65a8fc
1:152283568 FLG T>C	1	152283568	152283568	T	C	FLG	c.3794A>G	NM_002016.1	NP_002007.1:p.(His1265Arg)	NC_000001.10:g.152283568T>C	(Likely) benign	1 lab	272e9f9aab
4:110687709 CFI C>T	4	110687709	110687709	C	T	CFI	c.328+1G>A	NM_001318057.1	NP_001304986.1:p.?	NC_000004.11:g.110687709C>T	(Likely) pathogenic	1 lab	272eeaee7c
14:23901582 MYH7 G>C	14	23901582	23901582	G	C	MYH7	c.530+106C>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23901582G>C	(Likely) benign	1 lab	2732d89f33
3:37081708 MLH1 C>T	3	37081708	37081708	C	T	MLH1	c.1590C>T	NM_000249.4	NP_000240.1:p.(Phe530=)	NC_000003.11:g.37081708C>T	(Likely) benign	1 lab	273462284d
3:37067192 MLH1 C>T	3	37067192	37067192	C	T	MLH1	c.1103C>T	NM_000249.3	NP_000240.1:p.(Ser368Leu)	NC_000003.11:g.37067192C>T	(Likely) benign	1 lab	273513531b
1:158607788 SPTA1 T>G	1	158607788	158607788	T	G	SPTA1	c.5189+35A>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158607788T>G	(Likely) benign	1 lab	0335cfe13c
19:15655038 CYP4F22 C>T	19	15655038	15655038	C	T	CYP4F22	c.1084C>T	NM_173483.4	NP_775754.2:p.(Arg362Ter)	NC_000019.9:g.15655038C>T	(Likely) pathogenic	1 lab	27386a0dc1
1:103379192 COL11A1 C>A	1	103379192	103379192	C	A	COL11A1	c.4032+1G>T	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103379192C>A	VUS	1 lab	273ddc529e
4:113348782 ALPK1 C>T	4	113348782	113348782	C	T	ALPK1	c.756C>T	NM_025144.4	NP_079420.3:p.(Asn252=)	NC_000004.11:g.113348782C>T	(Likely) benign	1 lab	03382e1bc4
9:126129980 CRB2 G>A	9	126129980	126129980	G	A	CRB2	c.1054+15G>A	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126129980G>A	(Likely) benign	1 lab	033909d0a5
16:28950051 CD19 G>A	16	28950051	28950051	G	A	CD19	c.1544G>A	NM_001178098.2	NP_001171569.1:p.(Arg515His)	NC_000016.9:g.28950051G>A	(Likely) benign	1 lab	033b9bf69e
X:41333230 NYX C>T	X	41333230	41333230	C	T	NYX	c.524C>T	NM_022567.2	NP_072089.1:p.(Pro175Leu)	NC_000023.10:g.41333230C>T	VUS	1 lab	2748c9c394
X:591437 SHOX C>G	X	591437	591437	C	G	SHOX	c.-196C>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591437C>G	(Likely) benign	1 lab	2749d7eea8
17:48245027 SGCA G>A	17	48245027	48245027	G	A	SGCA	c.242G>A	NM_000023.4	NP_000014.1:p.(Arg81His)	NC_000017.10:g.48245027G>A	(Likely) pathogenic	1 lab	274a010cee
18:53303043 TCF4 A>G	18	53303043	53303043	A	G	TCF4	c.86T>C	NM_001243226.1	NP_001230155.1:p.(Met29Thr)	NC_000018.9:g.53303043A>G	(Likely) benign	1 lab	109cbfee1d
17:29527550 NF1 C>A	17	29527550	29527550	C	A	NF1	c.999C>A	NM_001042492.3	NP_001035957.1:p.(Tyr333Ter)	NC_000017.10:g.29527550C>A	(Likely) pathogenic	1 lab	274da0e8e3
3:128614248 ACAD9 A>G	3	128614248	128614248	A	G	ACAD9	c.442A>G	NM_014049.4	NP_054768.2:p.(Ile148Val)	NC_000003.11:g.128614248A>G	(Likely) pathogenic	1 lab	27519f144e
1:155161644 MUC1 G>C	1	155161644	155161644	G	C	MUC1	c.186+330C>G	NM_001018016.2	NP_001018016.1:p.?	NC_000001.10:g.155161644G>C	VUS	1 lab	1242b02c11
12:110230213 TRPV4 G>A	12	110230213	110230213	G	A	TRPV4	c.1846C>T	NM_021625.5	NP_067638.3:p.(Arg616Ter)	NC_000012.11:g.110230213G>A	VUS	1 lab	2754225dba
18:53255729 TCF4 A>G	18	53255729	53255729	A	G	TCF4	c.-481T>C	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.53255729A>G	VUS	1 lab	14dca453a7
3:38904786 SCN11A C>T	3	38904786	38904786	C	T	SCN11A	c.3956G>A	NM_014139.2	NP_054858.2:p.(Gly1319Asp)	NC_000003.11:g.38904786C>T	VUS	1 lab	275a6d6932
X:135772784 ARHGEF6 T>G	X	135772784	135772784	T	G	ARHGEF6				NC_000023.10:g.135772784T>G	(Likely) pathogenic	1 lab	275bb2c654
2:217285020 SMARCAL1 A>G	2	217285020	217285020	A	G	SMARCAL1	c.863-2A>G	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217285020A>G	(Likely) pathogenic	1 lab	275bfe5d0c
2:109365354 RANBP2 ATAACT>A	2	109365354	109365362	ATAACT	A	RANBP2	c.1064-18_1064-14del	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109365358_109365362del	(Likely) benign	1 lab	0341aaea22
1:103354286 COL11A1 C>A	1	103354286	103354286	C	A	COL11A1	c.4547G>T	NM_001854.3	NP_001845.3:p.(Gly1516Val)	NC_000001.10:g.103354286C>A	(Likely) pathogenic	1 lab	275e8c7811
6:44271947 AARS2 C>G	6	44271947	44271947	C	G	AARS2	c.1978G>C	NM_020745.4	NP_065796.2:p.(Glu660Gln)	NC_000006.11:g.44271947C>G	(Likely) benign	1 lab	275fa85322
4:79371579 FRAS1 G>A	4	79371579	79371579	G	A	FRAS1	c.6463+86G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79371579G>A	(Likely) benign	1 lab	0343d56cc5
7:128489566 FLNC G>A	7	128489566	128489566	G	A	FLNC	c.5133G>A	NM_001458.4	NP_001449.3:p.(Pro1711=)	NC_000007.13:g.128489566G>A	(Likely) benign	1 lab	2762964118
20:49510804 ADNP ATT>A	20	49510804	49510809	ATT	A	ADNP				NC_000020.10:g.49510808_49510809del	(Likely) pathogenic	1 lab	2b44b38863
17:41245484 BRCA1 T>C	17	41245484	41245484	T	C	BRCA1	c.2064A>G	NM_007294.3	NP_009225.1:p.(Thr688=)	NC_000017.10:g.41245484T>C	(Likely) benign	1 lab	2763dfdaff
13:32954232 BRCA2 G>T	13	32954232	32954232	G	T	BRCA2	c.9206G>T	NM_000059.4	NP_000050.3:p.(Cys3069Phe)	NC_000013.10:g.32954232G>T	VUS	1 lab	27666f346e
14:23867943 MYH6 C>T	14	23867943	23867943	C	T	MYH6	c.1885G>A	NM_002471.3	NP_002462.2:p.(Asp629Asn)	NC_000014.8:g.23867943C>T	(Likely) benign	1 lab	27695ee9eb
17:3539897 CTNS C>T	17	3539897	3539897	C	T	CTNS	c.-458C>T	NM_004937.2	NP_004928.2:p.?	NC_000017.10:g.3539897C>T	(Likely) benign	1 lab	276b40f233
5:74016497 HEXB T>C	5	74016497	74016497	T	C	HEXB	c.1538T>C	NM_000521.3	NP_000512.1:p.(Leu513Pro)	NC_000005.9:g.74016497T>C	VUS	1 lab	276bc1c696
17:44248769 KANSL1 T>C	17	44248769	44248769	T	C	KANSL1				NC_000017.10:g.44248769T>C	(Likely) benign	1 lab	276d0d9818
22:37466633 TMPRSS6 C>A	22	37466633	37466633	C	A	TMPRSS6	c.1759G>T	NM_153609.3	NP_705837.1:p.(Glu587Ter)	NC_000022.10:g.37466633C>A	(Likely) pathogenic	1 lab	27705e4335
3:180337760 CCDC39 T>A	3	180337760	180337760	T	A	CCDC39	c.1999-2A>T	NM_181426.1	NP_852091.1:p.?	NC_000003.11:g.180337760T>A	(Likely) pathogenic	1 lab	2773f6bb22
12:6463915 SCNN1A C>T	12	6463915	6463915	C	T	SCNN1A	c.1242+1G>A	NM_001038.5	NP_001029.1:p.?	NC_000012.11:g.6463915C>T	(Likely) pathogenic	1 lab	2774d82d69
5:127609567 FBN2 C>T	5	127609567	127609567	C	T	FBN2	c.7805G>A	NM_001999.4	NP_001990.2:p.(Gly2602Glu)	NC_000005.9:g.127609567C>T	VUS	1 lab	277891a1e0
18:52901827 TCF4 G>A	18	52901827	52901827	G	A	TCF4	c.1438C>T	NM_001083962.1	NP_001077431.1:p.(Gln480Ter)	NC_000018.9:g.52901827G>A	(Likely) pathogenic	1 lab	27798a6ec9
1:236882211 ACTN2 C>T	1	236882211	236882211	C	T	ACTN2	c.259C>T	NM_001103.3	NP_001094.1:p.(Pro87Ser)	NC_000001.10:g.236882211C>T	VUS	1 lab	277ac18ec3
13:78492288 EDNRB C>A	13	78492288	78492288	C	A	EDNRB	c.691G>T	NM_001201397.1	NP_001188326.1:p.(Ala231Ser)	NC_000013.10:g.78492288C>A	VUS	1 lab	277e09fe4e
1:43396355 SLC2A1 C>T	1	43396355	43396355	C	T	SLC2A1	c.458G>A	NM_006516.4	NP_006507.2:p.(Arg153His)	NC_000001.10:g.43396355C>T	(Likely) pathogenic	1 lab	277f7dfa23
1:236907942 ACTN2 G>A	1	236907942	236907942	G	A	ACTN2	c.1272G>A	NM_001103.2	NP_001094.1:p.(Leu424=)	NC_000001.10:g.236907942G>A	(Likely) benign	1 lab	27835630d6
9:98224278 PTCH1 G>A	9	98224278	98224278	G	A	PTCH1	c.2563C>T	NM_000264.5	NP_000255.2:p.(Leu855Phe)	NC_000009.11:g.98224278G>A	VUS	1 lab	27857e88ec
2:47693794 MSH2 A>G	2	47693794	47693794	A	G	MSH2	c.1511-3A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47693794A>G	(Likely) benign	1 lab	27874bcfe6
15:31453138 TRPM1 G>A	15	31453138	31453138	G	A	TRPM1	c.25C>T	NM_001252020.1	NP_001238949.1:p.(Leu9Phe)	NC_000015.9:g.31453138G>A	(Likely) benign	1 lab	167df0746d
7:128478336 FLNC G>C	7	128478336	128478336	G	C	FLNC	c.1063G>C	NM_001458.5	NP_001449.3:p.(Ala355Pro)	NC_000007.13:g.128478336G>C	VUS	1 lab	27bedceac2
5:145719768 POU4F3 C>T	5	145719768	145719768	C	T	POU4F3	c.778C>T	NM_002700.2	NP_002691.1:p.(Arg260Ter)	NC_000005.9:g.145719768C>T	(Likely) pathogenic	1 lab	278c184a48
X:100611771 BTK C>A	X	100611771	100611771	C	A	BTK	c.1349+1G>T	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100611771C>A	(Likely) pathogenic	1 lab	034602c842
2:48033491 MSH6 A>C	2	48033491	48033491	A	C	MSH6	c.3795A>C	NM_000179.2	NP_000170.1:p.(Gly1265=)	NC_000002.11:g.48033491A>C	(Likely) benign	1 lab	278df17f72
10:8100541 GATA3 C>A	10	8100541	8100541	C	A	GATA3	c.515C>A	NM_001002295.2	NP_001002295.1:p.(Ser172Ter)	NC_000010.10:g.8100541C>A	(Likely) pathogenic	1 lab	0346e29f88
2:167094721 SCN9A A>G	2	167094721	167094721	A	G	SCN9A	c.3651T>C	NM_002977.3	NP_002968.1:p.(Tyr1217=)	NC_000002.11:g.167094721A>G	(Likely) benign	1 lab	279022ac8b
3:38601743 SCN5A G>A	3	38601743	38601743	G	A	SCN5A	c.4140C>T	NM_198056.2	NP_932173.1:p.(Asn1380=)	NC_000003.11:g.38601743G>A	(Likely) benign	1 lab	27902cbbb2
17:39913645 JUP T>C	17	39913645	39913645	T	C	JUP	c.2046+22A>G	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39913645T>C	(Likely) benign	1 lab	279141db06
4:980801 IDUA G>C	4	980801	980801	G	C	IDUA	c.-72G>C	NM_000203.4	NP_000194.2:p.?	NC_000004.11:g.980801G>C	VUS	1 lab	2794bc82c0
3:128200714 GATA2 G>T	3	128200714	128200714	G	T	GATA2	c.1091C>A	NM_032638.4	NP_116027.2:p.(Ala364Asp)	NC_000003.11:g.128200714G>T	VUS	1 lab	2796c8fc7a
X:153640225 TAFAZZIN C>T	X	153640225	153640225	C	T	TAFAZZIN	c.45C>T	NM_000116.4	NP_000107.1:p.(Leu15=)	NC_000023.10:g.153640225C>T	(Likely) benign	1 lab	2798ad63ee
20:62127326 EEF1A2 G>A	20	62127326	62127326	G	A	EEF1A2				NC_000020.10:g.62127326G>A	(Likely) benign	1 lab	2799a9108f
X:144904874 SLITRK2 C>G	X	144904874	144904874	C	G	SLITRK2	c.931C>G	NM_032539.4	NP_115928.1:p.(Pro311Ala)	NC_000023.10:g.144904874C>G	VUS	1 lab	279bf61b56
1:216498789 USH2A C>T	1	216498789	216498789	C	T	USH2A	c.1001G>A	NM_206933.2	NP_996816.2:p.(Arg334Gln)	NC_000001.10:g.216498789C>T	(Likely) pathogenic	1 lab	279f7d81bc
1:216260091 USH2A G>A	1	216260091	216260091	G	A	USH2A	c.4957C>T	NM_206933.2	NP_996816.2:p.(Arg1653Ter)	NC_000001.10:g.216260091G>A	(Likely) pathogenic	1 lab	27ad6b6df8
1:7527946 MISSING C>G	1	7527946	7527946	C	G	MISSING				NC_000001.10:g.7527946C>G	VUS	1 lab	27afc5f6e1
19:13387970 CACNA1A T>C	19	13387970	13387970	T	C	CACNA1A	c.3835-28A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13387970T>C	(Likely) benign	1 lab	0348273819
1:16370873 CLCNKB C>T	1	16370873	16370873	C	T	CLCNKB	c.-7-108C>T	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16370873C>T	(Likely) benign	1 lab	034832c0af
5:14711275 ANKH T>C	5	14711275	14711275	T	C	ANKH	c.*31A>G	NM_054027.4	NP_473368.1:p.?	NC_000005.9:g.14711275T>C	(Likely) benign	1 lab	27b3727eb0
12:13720022 GRIN2B C>G	12	13720022	13720022	C	G	GRIN2B	c.2535G>C	NM_000834.5	NP_000825.2:p.(Gln845His)	NC_000012.11:g.13720022C>G	VUS	1 lab	27b501b43a
8:17928762 ASAH1 T>TATA	8	17928762	17928764	T	TATA	ASAH1	c.264+46_264+47insTAT	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17928763_17928764insTAA	(Likely) benign	1 lab	0348aa21ef
5:112176031 APC TTCTGCCA>T	5	112176031	112176039	TTCTGCCA	T	APC	c.4742_4748del	NM_000038.6	NP_000029.2:p.(Ser1581CysfsTer67)	NC_000005.9:g.112176033_112176039del	(Likely) pathogenic	1 lab	27bed7856b
10:112404347 RBM20 G>C	10	112404347	112404347	G	C	RBM20	c.135G>C	NM_001134363.2	NP_001127835.2:p.(Pro45=)	NC_000010.10:g.112404347G>C	(Likely) benign	1 lab	27c01a7400
5:180057053 FLT4 C>T	5	180057053	180057053	C	T	FLT4	c.566G>A	NM_182925.4	NP_891555.2:p.(Arg189Gln)	NC_000005.9:g.180057053C>T	(Likely) benign	1 lab	27c0619e81
9:135145069 SETX C>A	9	135145069	135145069	C	A	SETX	c.7220G>T	NM_001351528.1	NP_001338457.1:p.(Arg2407Ile)	NC_000009.11:g.135145069C>A	VUS	1 lab	27c080205c
13:33016579 N4BP2L2 GTGATAA>G	13	33016579	33016587	GTGATAA	G	N4BP2L2	c.2044_2049del	NM_001278432.1	NP_001265361.1:p.(Leu682_Ser683del)	NC_000013.10:g.33016582_33016587del	VUS	1 lab	193eb11337
3:38764982 SCN10A G>C	3	38764982	38764982	G	C	SCN10A	c.3291C>G	NM_006514.4	NP_006505.4:p.(Ile1097Met)	NC_000003.11:g.38764982G>C	(Likely) benign	1 lab	27c5ad8074
1:41285569 KCNQ4 A>G	1	41285569	41285569	A	G	KCNQ4	c.857A>G	NM_004700.3	NP_004691.2:p.(Tyr286Cys)	NC_000001.10:g.41285569A>G	(Likely) pathogenic	1 lab	27cb058da2
16:81211531 PKD1L2 C>A	16	81211531	81211531	C	A	PKD1L2	c.2318G>T	NM_001076780.1	NP_001070248.1:p.(Arg773Leu)	NC_000016.9:g.81211531C>A	(Likely) benign	1 lab	233e33d1b8
1:216424275 USH2A C>G	1	216424275	216424275	C	G	USH2A	c.2137G>C	NM_206933.2	NP_996816.2:p.(Gly713Arg)	NC_000001.10:g.216424275C>G	(Likely) benign	1 lab	27d0fbd7f4
9:139417262 NOTCH1 G>A	9	139417262	139417262	G	A	NOTCH1	c.742+40C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139417262G>A	(Likely) benign	1 lab	27d207ff2f
20:39317303 MAFB G>A	20	39317303	39317303	G	A	MAFB	c.188C>T	NM_005461.5	NP_005452.2:p.(Pro63Leu)	NC_000020.10:g.39317303G>A	(Likely) pathogenic	1 lab	27d2241d28
X:133607492 HPRT1 A>G	X	133607492	133607492	A	G	HPRT1	c.131A>G	NM_000194.3	NP_000185.1:p.(Asp44Gly)	NC_000023.10:g.133607492A>G	VUS	1 lab	0349c2e27a
6:31796780 HSPA1B G>A	6	31796780	31796780	G	A	HSPA1B	c.1053G>A	NM_005346.6	NP_005337.2:p.(Gln351=)	NC_000006.11:g.31796780G>A	(Likely) benign	1 lab	034b7888bf
14:20336561 OR4K3 G>A	14	20336561	20336561	G	A	OR4K3	c.773C>T	NM_001348266.1	NP_001335195.1:p.(Thr258Ile)	NC_000014.8:g.20336561G>A	VUS	1 lab	4866a8bc3b
12:11506888 PRB1 G>A	12	11506888	11506888	G	A	PRB1	c.149C>T	NM_005039.3	NP_005030.2:p.(Pro50Leu)	NC_000012.11:g.11506888G>A	VUS	1 lab	4b30d3e0a4
16:81167231 PKD1L2 C>T	16	81167231	81167231	C	T	PKD1L2	c.3739G>A	NM_001278425.1	NP_001265354.1:p.(Glu1247Lys)	NC_000016.9:g.81167231C>T	(Likely) benign	1 lab	4c871a3366
3:38924775 SCN11A G>A	3	38924775	38924775	G	A	SCN11A	c.3168C>T	NM_014139.2	NP_054858.2:p.(Ser1056=)	NC_000003.11:g.38924775G>A	(Likely) benign	1 lab	27df3855cf
9:129453266 LMX1B G>T	9	129453266	129453266	G	T	LMX1B	c.478G>T	NM_002316.3	NP_002307.2:p.(Glu160Ter)	NC_000009.11:g.129453266G>T	(Likely) pathogenic	1 lab	27e3f9ae86
4:3516560 LRPAP1 G>A	4	3516560	3516560	G	A	LRPAP1				NC_000004.11:g.3516560G>A	(Likely) benign	1 lab	27e85708f1
1:103352417 COL11A1 T>A	1	103352417	103352417	T	A	COL11A1	c.4804A>T	NM_001854.3	NP_001845.3:p.(Asn1602Tyr)	NC_000001.10:g.103352417T>A	(Likely) benign	1 lab	27e89a12e7
15:25149204 SNRPN G>C	15	25149204	25149204	G	C	SNRPN	c.-727-8306G>C	NM_001349454.1	NP_001336383.1:p.?	NC_000015.9:g.25149204G>C	(Likely) benign	1 lab	55383281d9
1:16891340 NBPF1 T>A	1	16891340	16891340	T	A	NBPF1	c.4182A>T	NM_001405667.2	NP_001392596.1:p.(Arg1394Ser)	NC_000001.10:g.16891340T>A	(Likely) benign	1 lab	61a6912a50
12:53876722 MAP3K12 G>T	12	53876722	53876722	G	T	MAP3K12	c.1865C>A	NM_001193511.2	NP_001180440.1:p.(Ala622Asp)	NC_000012.11:g.53876722G>T	VUS	1 lab	27eb70589a
7:154681024 MISSING C>T	7	154681024	154681024	C	T	MISSING				NC_000007.13:g.154681024C>T	(Likely) benign	1 lab	27ed5c432c
15:43020983 CDAN1 G>A	15	43020983	43020983	G	A	CDAN1	c.2671C>T	NM_138477.2	NP_612486.2:p.(Arg891Cys)	NC_000015.9:g.43020983G>A	(Likely) benign	1 lab	27eedfea9b
17:37881616 ERBB2 C>T	17	37881616	37881616	C	T	ERBB2	c.2686C>T	NM_004448.4	NP_004439.2:p.(Arg896Cys)	NC_000017.10:g.37881616C>T	VUS	1 lab	27f167c749
12:6091052 VWF C>T	12	6091052	6091052	C	T	VWF	c.7187G>A	NM_000552.3	NP_000543.2:p.(Cys2396Tyr)	NC_000012.11:g.6091052C>T	VUS	1 lab	27f31a2801
2:47705502 MSH2 G>T	2	47705502	47705502	G	T	MSH2	c.2302G>T	NM_000251.2	NP_000242.1:p.(Glu768Ter)	NC_000002.11:g.47705502G>T	(Likely) pathogenic	1 lab	27f58bc96c
2:47672698 MSH2 A>T	2	47672698	47672698	A	T	MSH2	c.1288A>T	NM_000251.2	NP_000242.1:p.(Lys430Ter)	NC_000002.11:g.47672698A>T	(Likely) pathogenic	1 lab	27f996c7af
9:97864012 FANCC T>G	9	97864012	97864012	T	G	FANCC	c.1654A>C	NM_000136.2	NP_000127.2:p.(Lys552Gln)	NC_000009.11:g.97864012T>G	(Likely) benign	1 lab	034cdd7e33
22:30054302 NF2 T>C	22	30054302	30054302	T	C	NF2				NC_000022.10:g.30054302T>C	(Likely) benign	1 lab	27ffdea16c
6:32007790 CYP21A2 C>G	6	32007790	32007790	C	G	CYP21A2	c.747C>G	NM_000500.7	NP_000491.4:p.(Leu249=)	NC_000006.11:g.32007790C>G	(Likely) benign	1 lab	28023c2c82
2:39285854 SOS1 G>C	2	39285854	39285854	G	C	SOS1	c.305C>G	NM_005633.3	NP_005624.2:p.(Pro102Arg)	NC_000002.11:g.39285854G>C	(Likely) pathogenic	1 lab	28028ff7ca
X:107938588 COL4A5 G>A	X	107938588	107938588	G	A	COL4A5	c.4913G>A	NM_033380.2	NP_203699.1:p.(Cys1638Tyr)	NC_000023.10:g.107938588G>A	(Likely) pathogenic	1 lab	280292f75f
X:153296063 MECP2 G>A	X	153296063	153296063	G	A	MECP2	c.1216C>T	NM_004992.3	NP_004983.1:p.(Gln406Ter)	NC_000023.10:g.153296063G>A	(Likely) pathogenic	1 lab	2804bcc7e7
X:66941680 AR G>A	X	66941680	66941680	G	A	AR	c.2324G>A	NM_000044.6	NP_000035.2:p.(Arg775His)	NC_000023.10:g.66941680G>A	(Likely) pathogenic	1 lab	2806a66f98
X:128696421 OCRL C>T	X	128696421	128696421	C	T	OCRL	c.1000C>T	NM_000276.3	NP_000267.2:p.(Arg334Ter)	NC_000023.10:g.128696421C>T	(Likely) pathogenic	1 lab	280b9b9857
2:39262372 SOS1 T>C	2	39262372	39262372	T	C	SOS1	c.1055A>G	NM_005633.3	NP_005624.2:p.(His352Arg)	NC_000002.11:g.39262372T>C	(Likely) benign	1 lab	280d4d8124
4:26322438 RBPJ G>A	4	26322438	26322438	G	A	RBPJ	c.59+1G>A	NM_005349.3	NP_005340.2:p.?	NC_000004.11:g.26322438G>A	VUS	1 lab	28d36563f5
7:100229437 TFR2 G>A	7	100229437	100229437	G	A	TFR2	c.1098C>T	NM_003227.4	NP_003218.2:p.(Arg366=)	NC_000007.13:g.100229437G>A	(Likely) benign	1 lab	280d8368ae
17:10426450 MYH2 A>C	17	10426450	10426450	A	C	MYH2	c.5630T>G	NM_017534.6	NP_060004.3:p.(Leu1877Arg)	NC_000017.10:g.10426450A>C	(Likely) pathogenic	1 lab	281051bee6
12:25368449 KRAS A>T	12	25368449	25368449	A	T	KRAS	c.496T>A	NM_033360.3	NP_203524.1:p.(Tyr166Asn)	NC_000012.11:g.25368449A>T	(Likely) benign	1 lab	2810b4ce2e
12:25398254 KRAS T>C	12	25398254	25398254	T	C	KRAS	c.65A>G	NM_033360.3	NP_203524.1:p.(Gln22Arg)	NC_000012.11:g.25398254T>C	(Likely) pathogenic	1 lab	2812d130d7
1:94549653 ABCA4 A>G	1	94549653	94549653	A	G	ABCA4	c.769-656T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94549653A>G	(Likely) benign	1 lab	2813bed62c
5:112043289 APC G>A	5	112043289	112043289	G	A	APC	c.-126G>A	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043289G>A	(Likely) benign	1 lab	281a1d99b6
2:227896993 COL4A4 C>A	2	227896993	227896993	C	A	COL4A4	c.3578-1G>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227896993C>A	(Likely) pathogenic	1 lab	0356d53513
13:113771911 F7 G>A	13	113771911	113771911	G	A	F7	c.739+1G>A	NM_019616.4	NP_062562.1:p.?	NC_000013.10:g.113771911G>A	(Likely) pathogenic	1 lab	281b9771f3
18:52896218 TCF4 C>T	18	52896218	52896218	C	T	TCF4	c.1739G>A	NM_001083962.1	NP_001077431.1:p.(Arg580Gln)	NC_000018.9:g.52896218C>T	(Likely) pathogenic	1 lab	2823d4d51f
2:179426979 TTN T>A	2	179426979	179426979	T	A	TTN	c.83880A>T	NM_001267550.2	NP_001254479.2:p.(Glu27960Asp)	NC_000002.11:g.179426979T>A	(Likely) benign	1 lab	2824334846
1:41282921 KCNQ4 C>T	1	41282921	41282921	C	T	KCNQ4	c.315-16C>T	NM_004700.3	NP_004691.2:p.?	NC_000001.10:g.41282921C>T	(Likely) benign	1 lab	28248166d6
19:55663253 TNNI3 G>T	19	55663253	55663253	G	T	TNNI3	c.582C>A	NM_000363.5	NP_000354.4:p.(Asn194Lys)	NC_000019.9:g.55663253G>T	VUS	1 lab	2824b72711
1:156376992 MIR9-1HG G>T	1	156376992	156376992	G	T	MIR9-1HG	n.349-2599C>A	NR_135260.1		NC_000001.10:g.156376992G>T	(Likely) benign	1 lab	64880bb369
1:16355187 CLCNKA G>A	1	16355187	16355187	G	A	CLCNKA	c.969-69G>A	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16355187G>A	(Likely) benign	1 lab	03581591a0
15:63362101 TPM1 C>T	15	63362101	63362101	C	T	TPM1	c.773-1188C>T	NM_001018004.1	NP_001018004.1:p.?	NC_000015.9:g.63362101C>T	VUS	1 lab	651480aad1
14:64488190 SYNE2 C>G	14	64488190	64488190	C	G	SYNE2	c.5309C>G	NM_182914.2	NP_878918.2:p.(Ala1770Gly)	NC_000014.8:g.64488190C>G	(Likely) benign	1 lab	282e173719
11:2170458 IGF2 G>A	11	2170458	2170458	G	A	IGF2	c.-351C>T	NM_001007139.4	NP_001007140.2:p.?	NC_000011.9:g.2170458G>A	(Likely) benign	1 lab	89310e2b7e
17:27861184 TAOK1 C>T	17	27861184	27861184	C	T	TAOK1	c.2410C>T	NM_020791.2	NP_065842.1:p.(Gln804Ter)	NC_000017.10:g.27861184C>T	(Likely) pathogenic	1 lab	2834cefb11
X:132730479 GPC3 C>A	X	132730479	132730479	C	A	GPC3	c.1631G>T	NM_001164617.1	NP_001158089.1:p.(Arg544Leu)	NC_000023.10:g.132730479C>A	VUS	1 lab	283560f6ca
18:42259614 SETBP1-DT G>A	18	42259614	42259614	G	A	SETBP1-DT	n.69C>T	NR_187430.1		NC_000018.9:g.42259614G>A	VUS	1 lab	95044b1f60
2:179574416 TTN AT>A	2	179574416	179574417	AT	A	TTN	c.24897del	NM_133378.4	NP_596869.4:p.(Phe8300SerfsTer6)	NC_000002.11:g.179574417del	(Likely) pathogenic	1 lab	2837193cd7
6:32008451 TNXB C>T	6	32008451	32008451	C	T	TNXB				NC_000006.11:g.32008451C>T	(Likely) benign	1 lab	28377540e6
17:4805758 CHRNE A>C	17	4805758	4805758	A	C	CHRNE	c.221T>G	NM_000080.3	NP_000071.1:p.(Val74Gly)	NC_000017.10:g.4805758A>C	VUS	1 lab	283af03e06
2:158656005 ACVR1 T>C	2	158656005	158656005	T	C	ACVR1	c.1A>G	NM_001105.4	NP_001096.1:p.(Met1?)	NC_000002.11:g.158656005T>C	VUS	1 lab	283e04d56a
2:215634001 BARD1 A>G	2	215634001	215634001	A	G	BARD1	c.1350T>C	NM_000465.4	NP_000456.2:p.(Asn450=)	NC_000002.11:g.215634001A>G	(Likely) benign	1 lab	283fb01aff
3:38671938 SCN5A C>A	3	38671938	38671938	C	A	SCN5A	c.274-18G>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38671938C>A	(Likely) benign	1 lab	28400bfada
2:165997235 SCN3A C>A	2	165997235	165997235	C	A	SCN3A	c.1945G>T	NM_006922.3	NP_008853.3:p.(Asp649Tyr)	NC_000002.11:g.165997235C>A	VUS	1 lab	2844b9372b
17:41245025 BRCA1 C>G	17	41245025	41245025	C	G	BRCA1	c.2523G>C	NM_007294.4	NP_009225.1:p.(Arg841=)	NC_000017.10:g.41245025C>G	(Likely) benign	1 lab	2845d3feb0
16:81194306 PKD1L2 C>A	16	81194306	81194306	C	A	PKD1L2	c.1627G>T	NM_001278425.1	NP_001265354.1:p.(Val543Leu)	NC_000016.9:g.81194306C>A	(Likely) benign	1 lab	a4bfff3a55
9:6604760 GLDC G>A	9	6604760	6604760	G	A	GLDC	c.886C>T	NM_000170.2	NP_000161.2:p.(Leu296Phe)	NC_000009.11:g.6604760G>A	(Likely) pathogenic	1 lab	0359f25bcd
7:47925507 PKD1L1 G>A	7	47925507	47925507	G	A	PKD1L1	c.2982C>T	NM_138295.3	NP_612152.1:p.(Pro994=)	NC_000007.13:g.47925507G>A	(Likely) benign	1 lab	2849ecea1a
1:228467595 OBSCN C>T	1	228467595	228467595	C	T	OBSCN	c.8757C>T	NM_001271223.2	NP_001258152.2:p.(Cys2919=)	NC_000001.10:g.228467595C>T	(Likely) benign	1 lab	284bd82b60
22:36684811 MYH9 C>T	22	36684811	36684811	C	T	MYH9	c.4732G>A	NM_002473.5	NP_002464.1:p.(Glu1578Lys)	NC_000022.10:g.36684811C>T	(Likely) benign	1 lab	28531e69a5
15:67457431 SMAD3 G>T	15	67457431	67457431	G	T	SMAD3	c.400+5G>T	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67457431G>T	(Likely) benign	1 lab	2854fb6155
6:75857507 COL12A1 C>T	6	75857507	75857507	C	T	COL12A1	c.4301G>A	NM_004370.5	NP_004361.3:p.(Arg1434Gln)	NC_000006.11:g.75857507C>T	VUS	1 lab	2855c319ca
12:56580972 SMARCC2 G>A	12	56580972	56580972	G	A	SMARCC2	c.230C>T	NM_003075.5	NP_003066.2:p.(Pro77Leu)	NC_000012.11:g.56580972G>A	(Likely) pathogenic	1 lab	285a5658ec
2:73835676 MISSING G>A	2	73835676	73835676	G	A	MISSING				NC_000002.11:g.73835676G>A	VUS	1 lab	285e72e1d8
X:15339822 PIGA C>T	X	15339822	15339822	C	T	PIGA	c.1261G>A	NM_002641.3	NP_002632.1:p.(Gly421Ser)	NC_000023.10:g.15339822C>T	(Likely) benign	1 lab	285fdc38e0
1:236926794 ACTN2 G>C	1	236926794	236926794	G	C	ACTN2	c.*875G>C	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236926794G>C	VUS	1 lab	2860f93f07
3:37090072 MLH1 C>T	3	37090072	37090072	C	T	MLH1	c.1961C>T	NM_000249.3	NP_000240.1:p.(Pro654Leu)	NC_000003.11:g.37090072C>T	(Likely) pathogenic	1 lab	287bb55715
6:111628667 REV3L TGA>T	6	111628667	111628670	TGA	T	REV3L	c.9147_9148del	NM_002912.4	NP_002903.3:p.(Gln3050AlafsTer5)	NC_000006.11:g.111628669_111628670del	VUS	1 lab	2866a90a2c
12:80900346 MISSING A>G	12	80900346	80900346	A	G	MISSING				NC_000012.11:g.80900346A>G	(Likely) pathogenic	1 lab	2867bd7ea0
2:96931094 TMEM127 A>C	2	96931094	96931094	A	C	TMEM127	c.26T>G	NM_017849.3	NP_060319.1:p.(Leu9Arg)	NC_000002.11:g.96931094A>C	VUS	1 lab	2869d972ee
5:112175457 APC CT>C	5	112175457	112175458	CT	C	APC	c.4167del	NM_000038.6	NP_000029.2:p.(Val1390SerfsTer25)	NC_000005.9:g.112175458del	(Likely) pathogenic	1 lab	286adc82fd
1:145075683 PDE4DIP C>T	1	145075683	145075683	C	T	PDE4DIP	c.180G>A	NM_001350521.1	NP_001337450.1:p.(Trp60Ter)	NC_000001.10:g.145075683C>T	VUS	1 lab	b7a359a691
6:110679158 METTL24 C>T	6	110679158	110679158	C	T	METTL24	c.318G>A	NM_001123364.1	NP_001116836.1:p.(Lys106=)	NC_000006.11:g.110679158C>T	(Likely) benign	1 lab	286c7b2d1b
X:153640060 TAFAZZIN CT>C	X	153640060	153640061	CT	C	TAFAZZIN	c.-120del	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640061del	(Likely) benign	1 lab	2c51529303
1:226923271 ITPKB T>C	1	226923271	226923271	T	C	ITPKB	c.1889A>G	NM_002221.3	NP_002212.3:p.(Asn630Ser)	NC_000001.10:g.226923271T>C	(Likely) benign	1 lab	0363572b48
7:150656680 KCNH2 G>A	7	150656680	150656680	G	A	KCNH2	c.452C>T	NM_000238.3	NP_000229.1:p.(Pro151Leu)	NC_000007.13:g.150656680G>A	(Likely) benign	1 lab	286f894fbe
4:187541580 FAT1 T>A	4	187541580	187541580	T	A	FAT1	c.6160A>T	NM_005245.4	NP_005236.2:p.(Thr2054Ser)	NC_000004.11:g.187541580T>A	VUS	1 lab	036816b16e
17:7123221 ACADVL G>C	17	7123221	7123221	G	C	ACADVL	c.-83G>C	NM_000018.3	NP_000009.1:p.?	NC_000017.10:g.7123221G>C	(Likely) benign	1 lab	cd97bc7922
17:29528461 NF1 TC>T	17	29528461	29528462	TC	T	NF1	c.1219del	NM_001042492.3	NP_001035957.1:p.(His407ThrfsTer5)	NC_000017.10:g.29528462del	(Likely) pathogenic	1 lab	2874e322a1
12:48375591 COL2A1 G>T	12	48375591	48375591	G	T	COL2A1	c.2377C>A	NM_001844.5	NP_001835.3:p.(Pro793Thr)	NC_000012.11:g.48375591G>T	VUS	1 lab	2875bb5fd3
12:66990485 GRIP1 T>G	12	66990485	66990485	T	G	GRIP1	c.136+142A>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66990485T>G	(Likely) benign	1 lab	0364e25a49
2:225365151 CUL3 C>T	2	225365151	225365151	C	T	CUL3	c.1539G>A	NM_003590.5	NP_003581.1:p.(Trp513Ter)	NC_000002.11:g.225365151C>T	(Likely) pathogenic	1 lab	2877c182e6
2:48027923 MSH6 ACT>A	2	48027923	48027927	ACT	A	MSH6	c.2804_2805del	NM_000179.3	NP_000170.1:p.(Ser935Ter)	NC_000002.11:g.48027926_48027927del	(Likely) pathogenic	1 lab	2878cbb09e
1:114447558 AP4B1 C>T	1	114447558	114447558	C	T	AP4B1	c.-246+6G>A	NM_001253853.1	NP_001240782.1:p.?	NC_000001.10:g.114447558C>T	(Likely) benign	1 lab	d64a5083e7
X:82764257 POU3F4 T>C	X	82764257	82764257	T	C	POU3F4	c.925T>C	NM_000307.4	NP_000298.3:p.(Ser309Pro)	NC_000023.10:g.82764257T>C	VUS	1 lab	288628314d
16:75512900 CHST6 A>G	16	75512900	75512900	A	G	CHST6	c.827T>C	NM_021615.4	NP_067628.1:p.(Leu276Pro)	NC_000016.9:g.75512900A>G	(Likely) pathogenic	1 lab	28863b96ca
16:2161793 PKD1 G>A	16	2161793	2161793	G	A	PKD1	c.3375C>T	NM_001009944.2	NP_001009944.2:p.(Ser1125=)	NC_000016.9:g.2161793G>A	(Likely) benign	1 lab	28872d8ea4
2:179418318 TTN T>C	2	179418318	179418318	T	C	TTN	c.89414A>G	NM_001267550.2	NP_001254479.2:p.(Asn29805Ser)	NC_000002.11:g.179418318T>C	VUS	1 lab	288b799d62
5:112174117 APC T>C	5	112174117	112174117	T	C	APC	c.2826T>C	NM_000038.5	NP_000029.2:p.(Asn942=)	NC_000005.9:g.112174117T>C	(Likely) benign	1 lab	288f371417
1:173726216 KLHL20 G>A	1	173726216	173726216	G	A	KLHL20	c.1069G>A	NM_014458.4	NP_055273.2:p.(Gly357Arg)	NC_000001.10:g.173726216G>A	(Likely) pathogenic	1 lab	2891a60461
16:81204577 PKD1L2 G>A	16	81204577	81204577	G	A	PKD1L2	c.2881C>T	NM_001076780.1	NP_001070248.1:p.(Arg961Trp)	NC_000016.9:g.81204577G>A	(Likely) benign	1 lab	e721ab5863
1:162326801 NOS1AP CCTT>C	1	162326801	162326811	CCTT	C	NOS1AP	c.822_824del	NM_014697.2	NP_055512.1:p.(Ser276del)	NC_000001.10:g.162326809_162326811del	(Likely) benign	1 lab	28982f877a
13:36920890 SPART G>C	13	36920890	36920890	G	C	SPART	c.-174=	NM_001142295.1	NP_001135767.1:p.?	NC_000013.10:g.36920890G>C	(Likely) benign	1 lab	289efcc2ef
2:131350613 CFC1 G>C	2	131350613	131350613	G	C	CFC1	c.509C>G	NM_032545.3	NP_115934.1:p.(Pro170Arg)	NC_000002.11:g.131350613G>C	(Likely) benign	1 lab	289f16d614
1:180772629 XPR1 G>A	1	180772629	180772629	G	A	XPR1	c.329G>A	NM_004736.3	NP_004727.2:p.(Arg110His)	NC_000001.10:g.180772629G>A	VUS	1 lab	28a206e808
3:130104108 COL6A5 G>T	3	130104108	130104108	G	T	COL6A5	c.1762G>T	NM_001278298.1	NP_001265227.1:p.(Glu588Ter)	NC_000003.11:g.130104108G>T	VUS	1 lab	28a4e33315
8:61750394 CHD7 G>T	8	61750394	61750394	G	T	CHD7				NC_000008.10:g.61750394G>T	(Likely) pathogenic	1 lab	2e60783e21
16:23391930 SCNN1B C>T	16	23391930	23391930	C	T	SCNN1B	c.1731C>T	NM_000336.3	NP_000327.2:p.(Thr577=)	NC_000016.9:g.23391930C>T	(Likely) benign	1 lab	03684f7de4
2:219674442 CYP27A1 G>A	2	219674442	219674442	G	A	CYP27A1	c.398G>A	NM_000784.3	NP_000775.1:p.(Trp133Ter)	NC_000002.11:g.219674442G>A	(Likely) pathogenic	1 lab	28aafd541f
18:43508856 EPG5 C>G	18	43508856	43508856	C	G	EPG5	c.2532G>C	NM_020964.2	NP_066015.2:p.(Glu844Asp)	NC_000018.9:g.43508856C>G	(Likely) benign	1 lab	28ab6240fd
15:25118795 SNRPN C>T	15	25118795	25118795	C	T	SNRPN	c.-801-12868C>T	NM_001349454.1	NP_001336383.1:p.?	NC_000015.9:g.25118795C>T	(Likely) benign	1 lab	e8b016ed10
6:43008384 CUL7 G>A	6	43008384	43008384	G	A	CUL7	c.4159C>T	NM_001168370.1	NP_001161842.1:p.(Gln1387Ter)	NC_000006.11:g.43008384G>A	(Likely) pathogenic	1 lab	28ada28b2c
2:127818193 BIN1 C>T	2	127818193	127818193	C	T	BIN1				NC_000002.11:g.127818193C>T	(Likely) benign	1 lab	28ade59733
15:43900061 STRC G>A	15	43900061	43900061	G	A	STRC				NC_000015.9:g.43900061G>A	(Likely) pathogenic	1 lab	2d38b0ad3a
2:179641365 TTN T>G	2	179641365	179641365	T	G	TTN	c.5226A>C	NM_001267550.2	NP_001254479.2:p.(Gly1742=)	NC_000002.11:g.179641365T>G	(Likely) benign	1 lab	28adf3f2cb
6:32006087 CYP21A2 G>A	6	32006087	32006087	G	A	CYP21A2				NC_000006.11:g.32006087G>A	(Likely) pathogenic	1 lab	28adf62eba
17:59557287 TBX4 C>T	17	59557287	59557287	C	T	TBX4	c.748C>T	NM_018488.2	NP_060958.2:p.(Arg250Trp)	NC_000017.10:g.59557287C>T	(Likely) pathogenic	1 lab	28ae08ffd4
16:81193410 PKD1L2 G>A	16	81193410	81193410	G	A	PKD1L2	c.1658C>T	NM_001278425.1	NP_001265354.1:p.(Thr553Met)	NC_000016.9:g.81193410G>A	VUS	1 lab	f3d947cdbf
X:13734648 TRAPPC2 G>A	X	13734648	13734648	G	A	TRAPPC2	c.340+5C>T	NM_001128835.2	NP_001122307.2:p.?	NC_000023.10:g.13734648G>A	VUS	1 lab	28b3317003
5:112174486 APC A>G	5	112174486	112174486	A	G	APC	c.3195A>G	NM_000038.5	NP_000029.2:p.(Gln1065=)	NC_000005.9:g.112174486A>G	(Likely) benign	1 lab	28bbe62d85
2:179637887 TTN A>G	2	179637887	179637887	A	G	TTN	c.7804T>C	NM_001267550.2	NP_001254479.2:p.(Tyr2602His)	NC_000002.11:g.179637887A>G	VUS	1 lab	28bec9d227
8:87679359 CNGB3 G>A	8	87679359	87679359	G	A	CNGB3	c.646C>T	NM_019098.4	NP_061971.3:p.(Arg216Ter)	NC_000008.10:g.87679359G>A	(Likely) pathogenic	1 lab	28bf5995b8
6:52149597 MCM3 C>G	6	52149597	52149597	C	G	MCM3	c.19G>C	NM_001270472.1	NP_001257401.1:p.(Gly7Arg)	NC_000006.11:g.52149597C>G	(Likely) benign	1 lab	fcb3e04d7c
X:38546850 TSPAN7 CA>C	X	38546850	38546851	CA	C	TSPAN7	c.682-2del	NM_004615.4	NP_004606.2:p.?	NC_000023.10:g.38546851del	(Likely) pathogenic	1 lab	28c28bb2ce
1:169529854 F5 T>C	1	169529854	169529854	T	C	F5	c.524A>G	NM_000130.4	NP_000121.2:p.(His175Arg)	NC_000001.10:g.169529854T>C	VUS	1 lab	28c2a84ba8
X:41604776 CASK C>T	X	41604776	41604776	C	T	CASK	c.356+1G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41604776C>T	(Likely) pathogenic	1 lab	28c38b37d2
13:52548950 ATP7B T>C	13	52548950	52548950	T	C	ATP7B	c.406A>G	NM_000053.3	NP_000044.2:p.(Arg136Gly)	NC_000013.10:g.52548950T>C	VUS	1 lab	28c51bc263
X:38146151 RPGR C>A	X	38146151	38146151	C	A	RPGR	c.2101G>T	NM_001034853.1	NP_001030025.1:p.(Glu701Ter)	NC_000023.10:g.38146151C>A	(Likely) pathogenic	1 lab	28d1cb7001
6:7566745 DSP GA>G	6	7566745	7566756	GA	G	DSP	c.1044+42del	NM_004415.3	NP_004406.2:p.?	NC_000006.11:g.7566756del	(Likely) benign	1 lab	28d20225b8
16:81198338 PKD1L2 G>T	16	81198338	81198338	G	T	PKD1L2	c.1201C>A	NM_001278425.1	NP_001265354.1:p.(Pro401Thr)	NC_000016.9:g.81198338G>T	(Likely) benign	1 lab	c2024a76e8
14:23899851 MYH7 T>C	14	23899851	23899851	T	C	MYH7	c.917A>G	NM_000257.4	NP_000248.2:p.(Asn306Ser)	NC_000014.8:g.23899851T>C	VUS	1 lab	28d69b7096
2:166243167 SCN2A C>T	2	166243167	166243167	C	T	SCN2A	c.4552-89C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243167C>T	(Likely) benign	1 lab	036b1bec3d
X:79990694 BRWD3 T>C	X	79990694	79990694	T	C	BRWD3				NC_000023.10:g.79990694T>C	VUS	1 lab	28d796dadd
2:215593565 BARD1 A>G	2	215593565	215593565	A	G	BARD1	c.2169T>C	NM_000465.4	NP_000456.2:p.(His723=)	NC_000002.11:g.215593565A>G	(Likely) benign	1 lab	28db0ada5d
20:47991198 KCNB1 C>G	20	47991198	47991198	C	G	KCNB1	c.899G>C	NM_004975.4	NP_004966.1:p.(Arg300Pro)	NC_000020.10:g.47991198C>G	VUS	1 lab	036eca64bc
10:73569757 CDH23 T>C	10	73569757	73569757	T	C	CDH23	c.8903T>C	NM_022124.6	NP_071407.4:p.(Val2968Ala)	NC_000010.10:g.73569757T>C	VUS	1 lab	28df93ffa5
5:67592132 PIK3R1 G>T	5	67592132	67592132	G	T	PIK3R1	c.1948G>T	NM_181523.3	NP_852664.1:p.(Glu650Ter)	NC_000005.9:g.67592132G>T	(Likely) pathogenic	1 lab	28e0da4388
16:732392 STUB1 G>A	16	732392	732392	G	A	STUB1	c.815G>A	NM_005861.3	NP_005852.2:p.(Arg272Gln)	NC_000016.9:g.732392G>A	VUS	1 lab	28e2227983
X:54491974 FGD1 G>A	X	54491974	54491974	G	A	FGD1	c.1546C>T	NM_004463.2	NP_004454.2:p.(Pro516Ser)	NC_000023.10:g.54491974G>A	(Likely) pathogenic	1 lab	28e7f54d24
15:57565461 TCF12 G>A	15	57565461	57565461	G	A	TCF12	c.1978+1G>A	NM_207036.1	NP_996919.1:p.?	NC_000015.9:g.57565461G>A	VUS	1 lab	28e9785e0b
1:110998854 MISSING G>A	1	110998854	110998854	G	A	MISSING				NC_000001.10:g.110998854G>A	(Likely) benign	1 lab	28eca31a71
9:139392027 NOTCH1 G>A	9	139392027	139392027	G	A	NOTCH1	c.6181-17C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139392027G>A	(Likely) benign	1 lab	28ef90da5b
1:47882512 FOXE3 C>G	1	47882512	47882512	C	G	FOXE3	c.525C>G	NM_012186.2	NP_036318.1:p.(His175Gln)	NC_000001.10:g.47882512C>G	VUS	1 lab	28f041a5a7
X:38182157 RPGR G>A	X	38182157	38182157	G	A	RPGR	c.196C>T	NM_001034853.1	NP_001030025.1:p.(Gln66Ter)	NC_000023.10:g.38182157G>A	(Likely) pathogenic	1 lab	28f140bd24
2:48032908 MSH6 A>G	2	48032908	48032908	A	G	MSH6	c.3646+62A>G	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032908A>G	(Likely) benign	1 lab	28f16eb777
11:47367894 MYBPC3 C>T	11	47367894	47367894	C	T	MYBPC3	c.954G>A	NM_000256.3	NP_000247.2:p.(Glu318=)	NC_000011.9:g.47367894C>T	(Likely) benign	1 lab	28f2a426db
9:139391737 NOTCH1 C>T	9	139391737	139391737	C	T	NOTCH1	c.6454G>A	NM_017617.5	NP_060087.3:p.(Gly2152Ser)	NC_000009.11:g.139391737C>T	(Likely) benign	1 lab	03749d9fa7
3:38763788 SCN10A G>A	3	38763788	38763788	G	A	SCN10A	c.3468C>T	NM_006514.3	NP_006505.3:p.(Ser1156=)	NC_000003.11:g.38763788G>A	(Likely) benign	1 lab	28f426d5ee
1:29391505 EPB41 G>A	1	29391505	29391505	G	A	EPB41	c.1293G>A	NM_004437.4	NP_004428.1:p.(Lys431=)	NC_000001.10:g.29391505G>A	(Likely) benign	1 lab	03768523c6
10:73574697 CDH23 G>A	10	73574697	73574697	G	A	CDH23	c.9739-12G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73574697G>A	VUS	1 lab	28f80e4bd6
2:166003520 SCN3A G>A	2	166003520	166003520	G	A	SCN3A	c.1400C>T	NM_006922.3	NP_008853.3:p.(Ala467Val)	NC_000002.11:g.166003520G>A	(Likely) benign	1 lab	28f8bd13fd
16:81190669 PKD1L2 T>C	16	81190669	81190669	T	C	PKD1L2	c.1865A>G	NM_001278425.1	NP_001265354.1:p.(Gln622Arg)	NC_000016.9:g.81190669T>C	(Likely) benign	1 lab	c38b00b19b
7:116423474 MET T>C	7	116423474	116423474	T	C	MET	c.3803T>C	NM_001127500.1	NP_001120972.1:p.(Met1268Thr)	NC_000007.13:g.116423474T>C	(Likely) pathogenic	1 lab	0378eef277
17:78090779 GAA C>T	17	78090779	78090779	C	T	GAA	c.2202C>T	NM_000152.4	NP_000143.2:p.(Asp734=)	NC_000017.10:g.78090779C>T	(Likely) benign	1 lab	29048ea381
6:112466035 LAMA4 G>T	6	112466035	112466035	G	T	LAMA4	c.2454C>A	NM_001105206.2	NP_001098676.2:p.(Ile818=)	NC_000006.11:g.112466035G>T	(Likely) benign	1 lab	29055bbd66
X:33229421 DMD C>T	X	33229421	33229421	C	T	DMD	c.9G>A	NM_004006.2	NP_003997.1:p.(Trp3Ter)	NC_000023.10:g.33229421C>T	(Likely) pathogenic	1 lab	2906ebf7d9
19:38934438 RYR1 T>C	19	38934438	38934438	T	C	RYR1	c.424+2T>C	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38934438T>C	(Likely) pathogenic	1 lab	290a7ee2c7
8:61754548 CHD7 A>G	8	61754548	61754548	A	G	CHD7				NC_000008.10:g.61754548A>G	(Likely) pathogenic	1 lab	290c40e9dc
1:216017840 USH2A T>C	1	216017840	216017840	T	C	USH2A	c.9056-2A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216017840T>C	(Likely) pathogenic	1 lab	290c42fc0f
22:33679277 LARGE1 C>T	22	33679277	33679277	C	T	LARGE1	c.1788G>A	NM_133642.3	NP_598397.1:p.(Ala596=)	NC_000022.10:g.33679277C>T	(Likely) benign	1 lab	290e0347a9
6:152443585 SYNE1 G>A	6	152443585	152443585	G	A	SYNE1				NC_000006.11:g.152443585G>A	VUS	1 lab	290f2ae7ad
7:128498058 FLNC T>G	7	128498058	128498058	T	G	FLNC	c.7781-4T>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498058T>G	(Likely) benign	1 lab	2913806282
8:38110284 DDHD2 A>G	8	38110284	38110284	A	G	DDHD2	c.1662A>G	NM_015214.2	NP_056029.2:p.(Gly554=)	NC_000008.10:g.38110284A>G	(Likely) benign	1 lab	2914c2db08
12:112888162 PTPN11 G>A	12	112888162	112888162	G	A	PTPN11	c.178G>A	NM_002834.3	NP_002825.3:p.(Gly60Ser)	NC_000012.11:g.112888162G>A	(Likely) pathogenic	1 lab	2915835bee
1:17350522 SDHB G>T	1	17350522	17350522	G	T	SDHB	c.588C>A	NM_003000.2	NP_002991.2:p.(Cys196Ter)	NC_000001.10:g.17350522G>T	(Likely) pathogenic	1 lab	291b67cb14
12:133251938 POLE C>T	12	133251938	133251938	C	T	POLE	c.1226+46G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133251938C>T	(Likely) benign	1 lab	291bdfaafb
3:45559430 LARS2 C>T	3	45559430	45559430	C	T	LARS2	c.2080C>T	NM_015340.4	NP_056155.1:p.(Arg694Ter)	NC_000003.11:g.45559430C>T	(Likely) pathogenic	1 lab	29202cad92
11:108141800 ATM C>T	11	108141800	108141800	C	T	ATM	c.2848C>T	NM_000051.4	NP_000042.3:p.(Leu950Phe)	NC_000011.9:g.108141800C>T	VUS	1 lab	2923f60dd3
14:61115401 SIX1 G>A	14	61115401	61115401	G	A	SIX1	c.507C>T	NM_005982.3	NP_005973.1:p.(Ser169=)	NC_000014.8:g.61115401G>A	VUS	1 lab	2924531cd1
6:146056329 EPM2A A>G	6	146056329	146056329	A	G	EPM2A	c.301+5T>C	NM_001018041.2	NP_001018051.1:p.?	NC_000006.11:g.146056329A>G	(Likely) benign	1 lab	037f63caed
1:196654261 CFH T>A	1	196654261	196654261	T	A	CFH	c.858T>A	NM_000186.3	NP_000177.2:p.(Thr286=)	NC_000001.10:g.196654261T>A	(Likely) benign	1 lab	29251f345e
2:227979452 COL4A4 A>G	2	227979452	227979452	A	G	COL4A4	c.490-40T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227979452A>G	(Likely) benign	1 lab	292592a8ef
11:2594192 KCNQ1 C>T	11	2594192	2594192	C	T	KCNQ1	c.897C>T	NM_000218.2	NP_000209.2:p.(Tyr299=)	NC_000011.9:g.2594192C>T	(Likely) benign	1 lab	292649a85e
3:120363328 HGD C>CT	3	120363328	120363329	C	CT	HGD	c.650-39_650-38insA	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120363328_120363329insT	VUS	1 lab	2929c698db
19:16198889 TPM4 G>T	19	16198889	16198889	G	T	TPM4	c.545G>T	NM_001145160.1	NP_001138632.1:p.(Arg182Leu)	NC_000019.9:g.16198889G>T	VUS	1 lab	2929d3bc74
19:36222833 MISSING C>T	19	36222833	36222833	C	T	MISSING				NC_000019.9:g.36222833C>T	(Likely) benign	1 lab	292f186aae
12:13717213 GRIN2B G>A	12	13717213	13717213	G	A	GRIN2B	c.2959C>T	NM_000834.5	NP_000825.2:p.(His987Tyr)	NC_000012.11:g.13717213G>A	VUS	1 lab	29313e5481
1:94514424 ABCA4 C>T	1	94514424	94514424	C	T	ABCA4	c.2743G>A	NM_000350.2	NP_000341.2:p.(Asp915Asn)	NC_000001.10:g.94514424C>T	(Likely) pathogenic	1 lab	293572ce5d
8:42275454 SLC20A2 C>T	8	42275454	42275454	C	T	SLC20A2	c.1826G>A	NM_006749.4	NP_006740.1:p.(Arg609His)	NC_000008.10:g.42275454C>T	VUS	1 lab	2936ceab51
9:98220354 PTCH1 CCA>C	9	98220354	98220356	CCA	C	PTCH1	c.3107_3108del	NM_000264.3	NP_000255.2:p.(Leu1036CysfsTer108)	NC_000009.11:g.98220355_98220356del	(Likely) pathogenic	1 lab	293a182dfd
12:133250205 POLE G>C	12	133250205	133250205	G	C	POLE	c.1315C>G	NM_006231.4	NP_006222.2:p.(Leu439Val)	NC_000012.11:g.133250205G>C	VUS	1 lab	293a6a7779
X:47041673 RBM10 C>T	X	47041673	47041673	C	T	RBM10	c.1898C>T	NM_005676.4	NP_005667.2:p.(Ser633Leu)	NC_000023.10:g.47041673C>T	VUS	1 lab	294bf14248
4:114275468 ANK2 A>G	4	114275468	114275468	A	G	ANK2	c.5694A>G	NM_001148.5	NP_001139.3:p.(Thr1898=)	NC_000004.11:g.114275468A>G	(Likely) benign	1 lab	293b59bbb9
4:3494949 DOK7 C>A	4	3494949	3494949	C	A	DOK7	c.1236C>A	NM_173660.4	NP_775931.3:p.(Cys412Ter)	NC_000004.11:g.3494949C>A	(Likely) pathogenic	1 lab	293c82441d
7:99703149 AP4M1 C>T	7	99703149	99703149	C	T	AP4M1	c.916C>T	NM_004722.3	NP_004713.2:p.(Arg306Ter)	NC_000007.13:g.99703149C>T	(Likely) pathogenic	1 lab	293fb6cb1a
16:21693114 OTOA C>T	16	21693114	21693114	C	T	OTOA	c.235C>T	NM_144672.3	NP_653273.3:p.(Arg79Trp)	NC_000016.9:g.21693114C>T	(Likely) pathogenic	1 lab	29417db8a9
17:41246189 BRCA1 C>G	17	41246189	41246189	C	G	BRCA1	c.1359G>C	NM_007294.4	NP_009225.1:p.(Glu453Asp)	NC_000017.10:g.41246189C>G	(Likely) benign	1 lab	2942fedff9
9:130984552 DNM1 A>G	9	130984552	130984552	A	G	DNM1	c.926A>G	NM_004408.3	NP_004399.2:p.(Lys309Arg)	NC_000009.11:g.130984552A>G	VUS	1 lab	2943e221ba
15:43378321 UBR1 G>A	15	43378321	43378321	G	A	UBR1	c.199C>T	NM_174916.3	NP_777576.1:p.(Gln67Ter)	NC_000015.9:g.43378321G>A	(Likely) pathogenic	1 lab	294518251b
2:48027583 MSH6 C>A	2	48027583	48027583	C	A	MSH6	c.2461C>A	NM_000179.2	NP_000170.1:p.(Leu821Ile)	NC_000002.11:g.48027583C>A	VUS	1 lab	29463c6c97
1:152282947 FLG T>TAGAGCTGAGTGCCTAGA	1	152282947	152282948	T	TAGAGCTGAGTGCCTAGA	FLG	c.4414_4415insTCTAGGCACTCAGCTCT	NM_002016.2	NP_002007.1:p.(Gln1472LeufsTer2)	NC_000001.10:g.152282947_152282948insAGAGCTGAGTGCCTAGA	(Likely) pathogenic	1 lab	294734b0a2
9:139396710 NOTCH1 C>T	9	139396710	139396710	C	T	NOTCH1	c.5384+14G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139396710C>T	(Likely) benign	1 lab	0381d9b834
X:79947378 BRWD3 G>A	X	79947378	79947378	G	A	BRWD3	c.3425C>T	NM_153252.5	NP_694984.5:p.(Ser1142Phe)	NC_000023.10:g.79947378G>A	(Likely) benign	1 lab	294a26b642
8:61765584 CHD7 G>T	8	61765584	61765584	G	T	CHD7	c.6300G>T	NM_017780.3	NP_060250.2:p.(Leu2100Phe)	NC_000008.10:g.61765584G>T	VUS	1 lab	294aa29deb
6:112575115 LAMA4 G>T	6	112575115	112575115	G	T	LAMA4	c.238C>A	NM_001105208.2	NP_001098678.1:p.(Pro80Thr)	NC_000006.11:g.112575115G>T	VUS	1 lab	294b562527
X:53228066 KDM5C G>A	X	53228066	53228066	G	A	KDM5C	c.2248C>T	NM_004187.5	NP_004178.2:p.(Arg750Trp)	NC_000023.10:g.53228066G>A	(Likely) pathogenic	1 lab	294e3114f9
12:106838273 POLR3B C>T	12	106838273	106838273	C	T	POLR3B	c.1988C>T	NM_018082.5	NP_060552.4:p.(Thr663Ile)	NC_000012.11:g.106838273C>T	VUS	1 lab	294f798d82
13:113481020 ATP11A T>G	13	113481020	113481020	T	G	ATP11A	c.1036T>G	NM_015205.3	NP_056020.2:p.(Phe346Val)	NC_000013.10:g.113481020T>G	VUS	1 lab	2951135bf3
3:189526079 TP63 G>T	3	189526079	189526079	G	T	TP63	c.343G>T	NM_003722.4	NP_003713.3:p.(Gly115Trp)	NC_000003.11:g.189526079G>T	(Likely) pathogenic	1 lab	2957c518ba
14:95570193 DICER1 G>C	14	95570193	95570193	G	C	DICER1	c.3540C>G	NM_177438.2	NP_803187.1:p.(Tyr1180Ter)	NC_000014.8:g.95570193G>C	(Likely) pathogenic	1 lab	29592fdbe7
14:23874919 MYH6 C>T	14	23874919	23874919	C	T	MYH6	c.262G>A	NM_002471.3	NP_002462.2:p.(Glu88Lys)	NC_000014.8:g.23874919C>T	VUS	1 lab	295cbbc7be
6:75838138 COL12A1 T>C	6	75838138	75838138	T	C	COL12A1	c.6214A>G	NM_004370.5	NP_004361.3:p.(Thr2072Ala)	NC_000006.11:g.75838138T>C	(Likely) benign	1 lab	295eb56c51
X:30322790 NR0B1 T>A	X	30322790	30322790	T	A	NR0B1	c.1319A>T	NM_000475.5	NP_000466.2:p.(Asn440Ile)	NC_000023.10:g.30322790T>A	(Likely) pathogenic	1 lab	0383f14b45
12:133241007 POLE A>G	12	133241007	133241007	A	G	POLE	c.2510T>C	NM_006231.4	NP_006222.2:p.(Phe837Ser)	NC_000012.11:g.133241007A>G	(Likely) benign	1 lab	29607713d8
17:59871074 BRIP1 C>T	17	59871074	59871074	C	T	BRIP1	c.1357G>A	NM_032043.3	NP_114432.2:p.(Ala453Thr)	NC_000017.10:g.59871074C>T	(Likely) benign	1 lab	2964b7a368
2:20205951 MATN3 A>T	2	20205951	20205951	A	T	MATN3	c.344T>A	NM_002381.4	NP_002372.1:p.(Ile115Asn)	NC_000002.11:g.20205951A>T	(Likely) pathogenic	1 lab	29655ced79
14:102478269 DYNC1H1 T>C	14	102478269	102478269	T	C	DYNC1H1	c.6676T>C	NM_001376.5	NP_001367.2:p.(Ser2226Pro)	NC_000014.8:g.102478269T>C	VUS	1 lab	2965b40115
17:29528097 NF1 C>T	17	29528097	29528097	C	T	NF1	c.1105C>T	NM_001042492.3	NP_001035957.1:p.(Gln369Ter)	NC_000017.10:g.29528097C>T	(Likely) pathogenic	1 lab	2969e637ca
9:138675924 KCNT1 G>A	9	138675924	138675924	G	A	KCNT1	c.2896G>A	NM_020822.3	NP_065873.2:p.(Ala966Thr)	NC_000009.11:g.138675924G>A	(Likely) pathogenic	1 lab	296b165abc
9:130587078 ENG C>T	9	130587078	130587078	C	T	ENG	c.991+1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130587078C>T	(Likely) pathogenic	1 lab	0384b4199b
1:10434465 KIF1B C>T	1	10434465	10434465	C	T	KIF1B	c.5038C>T	NM_001365951.3	NP_001352880.1:p.(Arg1680Ter)	NC_000001.10:g.10434465C>T	VUS	1 lab	296f76830d
2:228109784 COL4A3 C>T	2	228109784	228109784	C	T	COL4A3	c.324+73C>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228109784C>T	(Likely) benign	1 lab	29750bc5de
3:10183824 VHL ACCCAACG>A	3	10183824	10183832	ACCCAACG	A	VHL	c.295_301del	NM_000551.3	NP_000542.1:p.(Pro99CysfsTer58)	NC_000003.11:g.10183826_10183832del	(Likely) pathogenic	1 lab	29794b112f
20:32031214 SNTA1 G>C	20	32031214	32031214	G	C	SNTA1	c.213C>G	NM_003098.2	NP_003089.1:p.(Gly71=)	NC_000020.10:g.32031214G>C	(Likely) benign	1 lab	297c8d0b18
6:76572373 MYO6 C>T	6	76572373	76572373	C	T	MYO6	c.1607C>T	NM_004999.3	NP_004990.3:p.(Pro536Leu)	NC_000006.11:g.76572373C>T	VUS	1 lab	297dd17346
5:112151291 APC G>A	5	112151291	112151291	G	A	APC	c.933+1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112151291G>A	(Likely) pathogenic	1 lab	29818ad599
8:61735154 CHD7 G>A	8	61735154	61735154	G	A	CHD7				NC_000008.10:g.61735154G>A	(Likely) pathogenic	1 lab	29821f9488
6:112513043 LAMA4 G>A	6	112513043	112513043	G	A	LAMA4	c.513C>T	NM_001105206.2	NP_001098676.2:p.(Pro171=)	NC_000006.11:g.112513043G>A	(Likely) benign	1 lab	2982a8fd89
17:59861613 BRIP1 C>G	17	59861613	59861613	C	G	BRIP1	c.1628+18G>C	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59861613C>G	(Likely) benign	1 lab	29854dc0cc
12:48391685 COL2A1 G>T	12	48391685	48391685	G	T	COL2A1	c.398C>A	NM_001844.4	NP_001835.3:p.(Pro133His)	NC_000012.11:g.48391685G>T	VUS	1 lab	2989384003
15:59502697 MYO1E C>G	15	59502697	59502697	C	G	MYO1E	c.1362+16G>C	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59502697C>G	(Likely) benign	1 lab	038f0c5e86
9:136405770 ADAMTSL2 G>A	9	136405770	136405770	G	A	ADAMTSL2	c.463G>A	NM_001145320.1	NP_001138792.1:p.(Val155Met)	NC_000009.11:g.136405770G>A	VUS	1 lab	2991aa401c
17:65890147 BPTF C>T	17	65890147	65890147	C	T	BPTF	c.2412-3C>T	NM_182641.3	NP_872579.2:p.?	NC_000017.10:g.65890147C>T	VUS	1 lab	360a7d4424
2:32341255 SPAST G>T	2	32341255	32341255	G	T	SPAST	c.1072G>T	NM_014946.3	NP_055761.2:p.(Val358Phe)	NC_000002.11:g.32341255G>T	(Likely) pathogenic	1 lab	299290c575
18:44139427 LOXHD1 T>C	18	44139427	44139427	T	C	LOXHD1	c.3200A>G	NM_144612.6	NP_653213.6:p.(Lys1067Arg)	NC_000018.9:g.44139427T>C	VUS	1 lab	2994e1d058
11:65635801 EFEMP2 GTT>ATC	11	65635801	65635803	GTT	ATC	EFEMP2	c.937_939delinsGAT	NM_016938.4	NP_058634.4:p.(Asn313Asp)	NC_000011.9:g.65635801_65635803delinsATC	VUS	1 lab	29959373b6
12:6442673 TNFRSF1A T>C	12	6442673	6442673	T	C	TNFRSF1A	c.332A>G	NM_001065.4	NP_001056.1:p.(Gln111Arg)	NC_000012.11:g.6442673T>C	(Likely) pathogenic	1 lab	29960aa9ed
14:23888732 MYH7 G>A	14	23888732	23888732	G	A	MYH7	c.3813C>T	NM_000257.3	NP_000248.2:p.(Asn1271=)	NC_000014.8:g.23888732G>A	(Likely) benign	1 lab	29982b84ae
4:155527950 FGG C>G	4	155527950	155527950	C	G	FGG	c.1036G>C	NM_000509.5	NP_000500.2:p.(Asp346His)	NC_000004.11:g.155527950C>G	(Likely) pathogenic	1 lab	299956b7f8
X:154091399 F8 C>T	X	154091399	154091399	C	T	F8	c.6533G>A	NM_000132.3	NP_000123.1:p.(Arg2178His)	NC_000023.10:g.154091399C>T	(Likely) pathogenic	1 lab	299b618fcc
12:80699475 OTOGL G>T	12	80699475	80699475	G	T	OTOGL	c.3306G>T	NM_173591.3	NP_775862.3:p.(Gln1102His)	NC_000012.11:g.80699475G>T	(Likely) benign	1 lab	29a2956e1e
2:166170526 SCN2A C>T	2	166170526	166170526	C	T	SCN2A	c.1291C>T	NM_001040142.2	NP_001035232.1:p.(Gln431Ter)	NC_000002.11:g.166170526C>T	(Likely) pathogenic	1 lab	29aebe447a
X:70344085 MED12 T>A	X	70344085	70344085	T	A	MED12	c.1821T>A	NM_005120.3	NP_005111.2:p.(Asp607Glu)	NC_000023.10:g.70344085T>A	VUS	1 lab	29afa99b29
10:53458192 PRKG1 C>T	10	53458192	53458192	C	T	PRKG1	c.548-106153C>T	NM_001098512.2	NP_001091982.1:p.?	NC_000010.10:g.53458192C>T	VUS	1 lab	29afedc628
21:35742937 KCNE2 A>ATGG	21	35742937	35742942	A	ATGG	KCNE2	c.163_165dup	NM_172201.1	NP_751951.1:p.(Val55dup)	NC_000021.8:g.35742940_35742942dup	VUS	1 lab	29b09e23e9
10:85970837 CDHR1 C>A	10	85970837	85970837	C	A	CDHR1				NC_000010.10:g.85970837C>A	VUS	1 lab	29b78a278b
1:23236972 EPHB2 G>A	1	23236972	23236972	G	A	EPHB2	c.2600G>A	NM_001309193.1	NP_001296122.1:p.(Arg867His)	NC_000001.10:g.23236972G>A	VUS	1 lab	29bcd86588
2:233346298 ECEL1 G>A	2	233346298	233346298	G	A	ECEL1	c.1907C>T	NM_004826.4	NP_004817.2:p.(Thr636Met)	NC_000002.11:g.233346298G>A	VUS	1 lab	29bd9c464b
20:47991399 KCNB1 T>C	20	47991399	47991399	T	C	KCNB1	c.698A>G	NM_004975.4	NP_004966.1:p.(Glu233Gly)	NC_000020.10:g.47991399T>C	VUS	1 lab	29bf3ed929
X:136648834 ZIC3 C>G	X	136648834	136648834	C	G	ZIC3	c.-17C>G	NM_003413.3	NP_003404.1:p.?	NC_000023.10:g.136648834C>G	(Likely) benign	1 lab	29c05bfc8d
20:32031261 SNTA1 G>C	20	32031261	32031261	G	C	SNTA1	c.166C>G	NM_003098.2	NP_003089.1:p.(Pro56Ala)	NC_000020.10:g.32031261G>C	(Likely) benign	1 lab	29c27454fb
3:49160612 LAMB2 G>A	3	49160612	49160612	G	A	LAMB2	c.4177C>T	NM_002292.3	NP_002283.3:p.(Leu1393Phe)	NC_000003.11:g.49160612G>A	VUS	1 lab	29c540fa2a
18:42532606 SETBP1 G>A	18	42532606	42532606	G	A	SETBP1	c.3301G>A	NM_015559.2	NP_056374.2:p.(Val1101Ile)	NC_000018.9:g.42532606G>A	(Likely) benign	1 lab	29c7ef72ca
12:6127609 VWF G>A	12	6127609	6127609	G	A	VWF	c.4975C>T	NM_000552.3	NP_000543.2:p.(Arg1659Ter)	NC_000012.11:g.6127609G>A	(Likely) pathogenic	1 lab	29ce3c672f
X:39933281 BCOR G>A	X	39933281	39933281	G	A	BCOR	c.1318C>T	NM_001123385.2	NP_001116857.1:p.(Pro440Ser)	NC_000023.10:g.39933281G>A	VUS	1 lab	29d2dcb19c
21:38845076 DYRK1A T>C	21	38845076	38845076	T	C	DYRK1A	c.101T>C	NM_001396.3	NP_001387.2:p.(Met34Thr)	NC_000021.8:g.38845076T>C	VUS	1 lab	29d384fdee
3:37043585 MLH1 T>G	3	37043585	37043585	T	G	MLH1	c.306+1041T>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37043585T>G	(Likely) benign	1 lab	29d41fa701
3:38622746 SCN5A C>T	3	38622746	38622746	C	T	SCN5A	c.2904G>A	NM_198056.2	NP_932173.1:p.(Arg968=)	NC_000003.11:g.38622746C>T	(Likely) benign	1 lab	29d4344eee
15:93536174 CHD2 T>C	15	93536174	93536174	T	C	CHD2	c.3541T>C	NM_001271.3	NP_001262.3:p.(Cys1181Arg)	NC_000015.9:g.93536174T>C	(Likely) pathogenic	1 lab	29d5fe557e
2:44541050 SLC3A1 G>A	2	44541050	44541050	G	A	SLC3A1	c.1577G>A	NM_000341.3	NP_000332.2:p.(Trp526Ter)	NC_000002.11:g.44541050G>A	(Likely) pathogenic	1 lab	29d8bfd5a1
6:75825759 COL12A1 A>G	6	75825759	75825759	A	G	COL12A1	c.7534T>C	NM_004370.5	NP_004361.3:p.(Tyr2512His)	NC_000006.11:g.75825759A>G	VUS	1 lab	29db121f46
5:168098250 SLIT3 G>A	5	168098250	168098250	G	A	SLIT3	c.4080C>T	NM_003062.3	NP_003053.1:p.(Thr1360=)	NC_000005.9:g.168098250G>A	(Likely) benign	1 lab	0398dfdcf8
13:39261816 FREM2 A>G	13	39261816	39261816	A	G	FREM2	c.335A>G	NM_207361.6	NP_997244.4:p.(Asn112Ser)	NC_000013.10:g.39261816A>G	(Likely) benign	1 lab	039c5b759b
2:179438819 TTN G>A	2	179438819	179438819	G	A	TTN	c.72040C>T	NM_001267550.2	NP_001254479.2:p.(Pro24014Ser)	NC_000002.11:g.179438819G>A	(Likely) benign	1 lab	29e20e6e48
X:107815060 COL4A5 G>A	X	107815060	107815060	G	A	COL4A5	c.458G>A	NM_033380.2	NP_203699.1:p.(Gly153Asp)	NC_000023.10:g.107815060G>A	(Likely) pathogenic	1 lab	29e4802936
8:55538816 RP1 A>T	8	55538816	55538816	A	T	RP1	c.2374A>T	NM_006269.2	NP_006260.1:p.(Lys792Ter)	NC_000008.10:g.55538816A>T	(Likely) pathogenic	1 lab	29e68609a4
7:6045653 PMS2 A>T	7	6045653	6045653	A	T	PMS2	c.33T>A	NM_000535.6	NP_000526.2:p.(Pro11=)	NC_000007.13:g.6045653A>T	(Likely) benign	1 lab	29e8c625e4
18:19399615 MIB1 A>AC	18	19399615	19399619	A	AC	MIB1	c.1829+12dup	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19399619dup	(Likely) benign	1 lab	29eb8feffa
2:48915204 LHCGR C>A	2	48915204	48915204	C	A	LHCGR	c.1732G>T	NM_000233.3	NP_000224.2:p.(Asp578Tyr)	NC_000002.11:g.48915204C>A	(Likely) pathogenic	1 lab	29eca13e86
19:36330148 NPHS1 T>C	19	36330148	36330148	T	C	NPHS1	c.3100A>G	NM_004646.3	NP_004637.1:p.(Thr1034Ala)	NC_000019.9:g.36330148T>C	VUS	1 lab	29ecde9945
19:17088247 CPAMD8 G>T	19	17088247	17088247	G	T	CPAMD8	c.1689C>A	NM_015692.5	NP_056507.3:p.(Tyr563Ter)	NC_000019.9:g.17088247G>T	(Likely) pathogenic	1 lab	29f4281d03
12:114823187 TBX5 G>T	12	114823187	114823187	G	T	TBX5	c.755+94C>A	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114823187G>T	(Likely) benign	1 lab	29fbb52150
17:79479792 ACTG1 G>A	17	79479792	79479792	G	A	ACTG1				NC_000017.10:g.79479792G>A	(Likely) benign	1 lab	29fc7a05b2
17:62048546 SCN4A G>A	17	62048546	62048546	G	A	SCN4A				NC_000017.10:g.62048546G>A	VUS	1 lab	29ff811e8c
12:111758472 CUX2 C>T	12	111758472	111758472	C	T	CUX2	c.2659C>T	NM_015267.4	NP_056082.2:p.(Gln887Ter)	NC_000012.11:g.111758472C>T	VUS	1 lab	2a0112f1f2
1:237893618 RYR2 GAAC>G	1	237893618	237893622	GAAC	G	RYR2	c.10899_10901del	NM_001035.2	NP_001026.2:p.(Glu3633_His3634delinsAsp)	NC_000001.10:g.237893620_237893622del	VUS	1 lab	2a01d3293b
2:179543170 TTN G>C	2	179543170	179543170	G	C	TTN	c.33881C>G	NM_001267550.2	NP_001254479.2:p.(Pro11294Arg)	NC_000002.11:g.179543170G>C	(Likely) benign	1 lab	2a0300d154
1:220315179 IARS2 C>T	1	220315179	220315179	C	T	IARS2	c.2449C>T	NM_018060.4	NP_060530.3:p.(Arg817Cys)	NC_000001.10:g.220315179C>T	(Likely) pathogenic	1 lab	2a07a79caa
14:23889448 MYH7 TC>T	14	23889448	23889449	TC	T	MYH7	c.3337-6del	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23889449del	(Likely) benign	1 lab	2a1ab6770a
10:121429643 BAG3 T>TGGC	10	121429643	121429646	T	TGGC	BAG3	c.462_464dup	NM_004281.3	NP_004272.2:p.(Ala160dup)	NC_000010.10:g.121429644_121429646dup	(Likely) benign	1 lab	2a099a9595
11:108155189 ATM T>C	11	108155189	108155189	T	C	ATM	c.3982T>C	NM_000051.3	NP_000042.3:p.(Leu1328=)	NC_000011.9:g.108155189T>C	(Likely) benign	1 lab	2a09c8ce0a
5:137034007 KLHL3 G>A	5	137034007	137034007	G	A	KLHL3	c.332C>T	NM_017415.2	NP_059111.2:p.(Ala111Val)	NC_000005.9:g.137034007G>A	VUS	1 lab	2a0bc375ee
13:23949257 SACS C>T	13	23949257	23949257	C	T	SACS	c.171+1G>A	NM_014363.5	NP_055178.3:p.?	NC_000013.10:g.23949257C>T	(Likely) pathogenic	1 lab	2a0c403269
2:240036959 HDAC4 C>T	2	240036959	240036959	C	T	HDAC4	c.1566G>A	NM_006037.3	NP_006028.2:p.(Pro522=)	NC_000002.11:g.240036959C>T	(Likely) benign	1 lab	2a0d7245c4
14:102495988 DYNC1H1 T>C	14	102495988	102495988	T	C	DYNC1H1				NC_000014.8:g.102495988T>C	(Likely) pathogenic	1 lab	2a0d73bcf9
16:23652476 PALB2 C>T	16	23652476	23652476	C	T	PALB2	c.3G>A	NM_024675.3	NP_078951.2:p.(Met1?)	NC_000016.9:g.23652476C>T	(Likely) pathogenic	1 lab	2a103a52e3
9:139417476 NOTCH1 G>A	9	139417476	139417476	G	A	NOTCH1	c.568C>T	NM_017617.3	NP_060087.3:p.(Arg190Cys)	NC_000009.11:g.139417476G>A	(Likely) pathogenic	1 lab	2a125830c0
16:56906652 SLC12A3 C>T	16	56906652	56906652	C	T	SLC12A3	c.1049C>T	NM_000339.3	NP_000330.3:p.(Ser350Leu)	NC_000016.9:g.56906652C>T	(Likely) pathogenic	1 lab	2a151c3c80
1:237993900 RYR2 C>T	1	237993900	237993900	C	T	RYR2	c.14726C>T	NM_001035.2	NP_001026.2:p.(Thr4909Ile)	NC_000001.10:g.237993900C>T	(Likely) pathogenic	1 lab	2a19df2265
5:43702785 NNT C>G	5	43702785	43702785	C	G	NNT	c.3058C>G	NM_012343.3	NP_036475.3:p.(Pro1020Ala)	NC_000005.9:g.43702785C>G	VUS	1 lab	2a1dbb7948
9:12698539 TYRP1 T>G	9	12698539	12698539	T	G	TYRP1	c.797T>G	NM_000550.3	NP_000541.1:p.(Met266Arg)	NC_000009.11:g.12698539T>G	VUS	1 lab	2a1e964775
2:198364518 HSPD1 G>A	2	198364518	198364518	G	A	HSPD1	c.-15C>T	NM_002156.4	NP_002147.2:p.?	NC_000002.11:g.198364518G>A	(Likely) benign	1 lab	2a1f0710f6
5:112137036 APC C>T	5	112137036	112137036	C	T	APC	c.790C>T	NM_000038.5	NP_000029.2:p.(Gln264Ter)	NC_000005.9:g.112137036C>T	(Likely) pathogenic	1 lab	2a20c8d3bd
12:6131977 VWF G>A	12	6131977	6131977	G	A	VWF	c.3467C>T	NM_000552.3	NP_000543.2:p.(Thr1156Met)	NC_000012.11:g.6131977G>A	(Likely) pathogenic	1 lab	2a21b32de1
14:23896214 MYH7 G>A	14	23896214	23896214	G	A	MYH7	c.1957-141C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23896214G>A	(Likely) benign	1 lab	2a22835d43
11:121037443 TECTA C>T	11	121037443	121037443	C	T	TECTA	c.5540C>T	NM_005422.4	NP_005413.2:p.(Ser1847Phe)	NC_000011.9:g.121037443C>T	VUS	1 lab	2a2625e2b0
19:1220400 STK11 G>T	19	1220400	1220400	G	T	STK11	c.493G>T	NM_000455.4	NP_000446.1:p.(Glu165Ter)	NC_000019.9:g.1220400G>T	(Likely) pathogenic	1 lab	2a27558b57
3:49168168 LAMB2 C>A	3	49168168	49168168	C	A	LAMB2	c.1036+5G>T	NM_002292.3	NP_002283.3:p.?	NC_000003.11:g.49168168C>A	VUS	1 lab	2a30072be5
14:23897156 MYH7 G>A	14	23897156	23897156	G	A	MYH7	c.1579-53C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23897156G>A	(Likely) benign	1 lab	2a365a4146
19:3586512 GIPC3 A>G	19	3586512	3586512	A	G	GIPC3	c.245A>G	NM_133261.2	NP_573568.1:p.(Asn82Ser)	NC_000019.9:g.3586512A>G	VUS	1 lab	2a3849f8f9
18:31224907 ASXL3 C>T	18	31224907	31224907	C	T	ASXL3	c.187C>T	NM_030632.2	NP_085135.1:p.(Arg63Ter)	NC_000018.9:g.31224907C>T	(Likely) pathogenic	1 lab	2a390c5869
14:23897011 MYH7 C>T	14	23897011	23897011	C	T	MYH7	c.1671G>A	NM_000257.2	NP_000248.2:p.(Leu557=)	NC_000014.8:g.23897011C>T	(Likely) benign	1 lab	2a3b22a7ec
5:149631392 CAMK2A A>T	5	149631392	149631392	A	T	CAMK2A	c.614T>A	NM_015981.3	NP_057065.2:p.(Ile205Asn)	NC_000005.9:g.149631392A>T	(Likely) pathogenic	1 lab	2a3c093eca
7:151856050 KMT2C CCT>C	7	151856050	151856054	CCT	C	KMT2C	c.11566_11567del	NM_170606.3	NP_733751.2:p.(Arg3856AspfsTer3)	NC_000007.13:g.151856053_151856054del	(Likely) pathogenic	1 lab	2a3f11855a
4:3478251 DOK7 G>A	4	3478251	3478251	G	A	DOK7	c.514G>A	NM_173660.4	NP_775931.3:p.(Gly172Arg)	NC_000004.11:g.3478251G>A	VUS	1 lab	2a472f19ff
1:94496010 ABCA4 G>T	1	94496010	94496010	G	T	ABCA4	c.4326C>A	NM_000350.2	NP_000341.2:p.(Asn1442Lys)	NC_000001.10:g.94496010G>T	(Likely) pathogenic	1 lab	2a49bc63d8
19:50138929 RRAS C>T	19	50138929	50138929	C	T	RRAS	c.573-12G>A	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50138929C>T	(Likely) benign	1 lab	03ac8f3bf3
1:197070283 ASPM G>A	1	197070283	197070283	G	A	ASPM	c.8098C>T	NM_018136.5	NP_060606.3:p.(Arg2700Ter)	NC_000001.10:g.197070283G>A	(Likely) pathogenic	1 lab	2a4aa0e5cd
9:2718884 KCNV2 T>C	9	2718884	2718884	T	C	KCNV2				NC_000009.11:g.2718884T>C	VUS	1 lab	2a4f1d948c
X:85219058 CHM C>G	X	85219058	85219058	C	G	CHM	c.315-1G>C	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85219058C>G	(Likely) pathogenic	1 lab	2a50373625
2:21250896 APOB A>G	2	21250896	21250896	A	G	APOB	c.1871T>C	NM_000384.3	NP_000375.3:p.(Leu624Pro)	NC_000002.11:g.21250896A>G	VUS	1 lab	0d013551ab
3:50231959 GNAT1 T>A	3	50231959	50231959	T	A	GNAT1	c.734T>A	NM_144499.3	NP_653082.1:p.(Leu245Gln)	NC_000003.11:g.50231959T>A	VUS	1 lab	2a50625f91
10:102749091 TWNK A>T	10	102749091	102749091	A	T	TWNK	c.1124A>T	NM_021830.4	NP_068602.2:p.(Glu375Val)	NC_000010.10:g.102749091A>T	VUS	1 lab	2a51158a66
11:77066713 PAK1 G>A	11	77066713	77066713	G	A	PAK1	c.772C>T	NM_002576.5	NP_002567.3:p.(Arg258Ter)	NC_000011.9:g.77066713G>A	(Likely) benign	1 lab	2a51e85ce3
7:151265714 PRKAG2 C>T	7	151265714	151265714	C	T	PRKAG2	c.1233+88G>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151265714C>T	(Likely) benign	1 lab	2a5568c8ee
X:79932863 BRWD3 C>A	X	79932863	79932863	C	A	BRWD3	c.4655-1G>T	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79932863C>A	(Likely) pathogenic	1 lab	2a5802b90f
5:112179072 APC C>G	5	112179072	112179072	C	G	APC	c.7781C>G	NM_000038.6	NP_000029.2:p.(Ser2594Cys)	NC_000005.9:g.112179072C>G	(Likely) benign	1 lab	2a5f8e8b9e
7:155604587 SHH G>GT	7	155604587	155604588	G	GT	SHH	c.229dup	NM_000193.2	NP_000184.1:p.(Thr77AsnfsTer11)	NC_000007.13:g.155604588dup	(Likely) pathogenic	1 lab	2a5fde240d
17:80053237 MISSING C>T	17	80053237	80053237	C	T	MISSING				NC_000017.10:g.80053237C>T	VUS	1 lab	2a6156b56e
7:92732473 SAMD9 C>T	7	92732473	92732473	C	T	SAMD9	c.2938G>A	NM_017654.4	NP_060124.2:p.(Gly980Arg)	NC_000007.13:g.92732473C>T	(Likely) pathogenic	1 lab	2a61613a92
16:23614890 PALB2 G>A	16	23614890	23614890	G	A	PALB2	c.3451C>T	NM_024675.4	NP_078951.2:p.(Leu1151Phe)	NC_000016.9:g.23614890G>A	VUS	1 lab	2a6364c9c3
2:179594981 TTN T>C	2	179594981	179594981	T	C	TTN	c.18146A>G	NM_001267550.2	NP_001254479.2:p.(Asn6049Ser)	NC_000002.11:g.179594981T>C	(Likely) benign	1 lab	2a663a49b3
3:65416482 MAGI1 G>A	3	65416482	65416482	G	A	MAGI1	c.1438C>T	NM_001033057.1	NP_001028229.1:p.(Arg480Cys)	NC_000003.11:g.65416482G>A	VUS	1 lab	2a6903e4dc
11:47360412 MYBPC3 T>C	11	47360412	47360412	T	C	MYBPC3	c.2149-182A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360412T>C	(Likely) benign	1 lab	2a69eae48d
8:38279339 FGFR1 A>G	8	38279339	38279339	A	G	FGFR1	c.1057T>C	NM_023110.2	NP_075598.2:p.(Ser353Pro)	NC_000008.10:g.38279339A>G	(Likely) pathogenic	1 lab	2a6ad931b9
8:11405523 BLK C>G	8	11405523	11405523	C	G	BLK	c.176-18C>G	NM_001715.3	NP_001706.2:p.?	NC_000008.10:g.11405523C>G	(Likely) benign	1 lab	03ad7e2856
11:121016574 TECTA G>T	11	121016574	121016574	G	T	TECTA	c.3854G>T	NM_005422.4	NP_005413.2:p.(Cys1285Phe)	NC_000011.9:g.121016574G>T	VUS	1 lab	2a6e8cc733
17:41199655 BRCA1 C>G	17	41199655	41199655	C	G	BRCA1	c.5467+5G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199655C>G	VUS	1 lab	2a6f933578
17:59761311 BRIP1 A>C	17	59761311	59761311	A	C	BRIP1	c.3096T>G	NM_032043.2	NP_114432.2:p.(Ser1032Arg)	NC_000017.10:g.59761311A>C	(Likely) benign	1 lab	2a702b1dc8
X:54521869 FGD1 C>G	X	54521869	54521869	C	G	FGD1	c.-4G>C	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54521869C>G	(Likely) benign	1 lab	3be2e72834
2:47639634 MSH2 C>T	2	47639634	47639634	C	T	MSH2	c.727C>T	NM_000251.3	NP_000242.1:p.(Arg243Trp)	NC_000002.11:g.47639634C>T	VUS	1 lab	2a73e9fffe
13:113761159 F7 G>A	13	113761159	113761159	G	A	F7				NC_000013.10:g.113761159G>A	VUS	1 lab	2a77174fab
8:38189106 NSD3 G>A	8	38189106	38189106	G	A	NSD3	c.911-3C>T	NM_023034.1	NP_075447.1:p.?	NC_000008.10:g.38189106G>A	VUS	1 lab	2a787cc143
X:110644337 DCX G>A	X	110644337	110644337	G	A	DCX	c.586C>T	NM_178153.3	NP_835366.1:p.(Arg196Cys)	NC_000023.10:g.110644337G>A	(Likely) pathogenic	1 lab	2a798d49cf
8:100133397 VPS13B A>G	8	100133397	100133397	A	G	VPS13B	c.938-8A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100133397A>G	(Likely) pathogenic	1 lab	2a7a579449
2:179424185 TTN A>G	2	179424185	179424185	A	G	TTN	c.86674T>C	NM_001267550.2	NP_001254479.2:p.(Trp28892Arg)	NC_000002.11:g.179424185A>G	VUS	1 lab	2a7ad8c1b2
7:155599115 SHH A>C	7	155599115	155599115	A	C	SHH	c.437T>G	NM_000193.2	NP_000184.1:p.(Val146Gly)	NC_000007.13:g.155599115A>C	(Likely) pathogenic	1 lab	2a7b601ea7
8:11607504 GATA4 G>A	8	11607504	11607504	G	A	GATA4	c.784-116G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11607504G>A	(Likely) benign	1 lab	2a7b72c050
16:23226531 SCNN1G G>A	16	23226531	23226531	G	A	SCNN1G	c.1691G>A	NM_001039.4	NP_001030.2:p.(Arg564His)	NC_000016.9:g.23226531G>A	VUS	1 lab	2a7e586753
4:3495189 DOK7 T>G	4	3495189	3495189	T	G	DOK7	c.1476T>G	NM_173660.4	NP_775931.3:p.(Cys492Trp)	NC_000004.11:g.3495189T>G	VUS	1 lab	2a7f5a8d4a
13:25459536 CENPJ A>G	13	25459536	25459536	A	G	CENPJ				NC_000013.10:g.25459536A>G	(Likely) benign	1 lab	2a80178167
16:2226107 TRAF7 G>A	16	2226107	2226107	G	A	TRAF7	c.1804G>A	NM_032271.3	NP_115647.2:p.(Val602Met)	NC_000016.9:g.2226107G>A	VUS	1 lab	2a80ac1e0e
7:148523617 EZH2 T>C	7	148523617	148523617	T	C	EZH2	c.836A>G	NM_004456.4	NP_004447.2:p.(His279Arg)	NC_000007.13:g.148523617T>C	(Likely) pathogenic	1 lab	2a82228bf2
1:64095214 PGM1 G>A	1	64095214	64095214	G	A	PGM1	c.419G>A	NM_001172818.1	NP_001166289.1:p.(Gly140Asp)	NC_000001.10:g.64095214G>A	VUS	1 lab	2a8296facd
2:186666287 FSIP2 T>TA	2	186666287	186666288	T	TA	FSIP2	c.12255dup	NM_173651.4	NP_775922.3:p.(Glu4086ArgfsTer26)	NC_000002.11:g.186666288dup	(Likely) pathogenic	1 lab	2a867bebd1
2:220080749 ABCB6 C>T	2	220080749	220080749	C	T	ABCB6	c.1124G>A	NM_005689.3	NP_005680.1:p.(Arg375Gln)	NC_000002.11:g.220080749C>T	(Likely) pathogenic	1 lab	2a8af40b2c
9:136219623 SURF1 T>C	9	136219623	136219623	T	C	SURF1	c.516-2A>G	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136219623T>C	(Likely) pathogenic	1 lab	2a8eb4a2b0
4:71509002 ENAM G>A	4	71509002	71509002	G	A	ENAM				NC_000004.11:g.71509002G>A	(Likely) pathogenic	1 lab	2a92017ada
17:59763520 BRIP1 G>C	17	59763520	59763520	G	C	BRIP1	c.2582C>G	NM_032043.3	NP_114432.2:p.(Ser861Cys)	NC_000017.10:g.59763520G>C	VUS	1 lab	2a92ec69e7
5:176857878 GRK6 G>A	5	176857878	176857878	G	A	GRK6	c.58G>A	NM_002082.3	NP_002073.2:p.(Gly20Ser)	NC_000005.9:g.176857878G>A	VUS	1 lab	2a971075f5
10:26241190 MYO3A A>G	10	26241190	26241190	A	G	MYO3A	c.151A>G	NM_017433.4	NP_059129.3:p.(Ile51Val)	NC_000010.10:g.26241190A>G	VUS	1 lab	2a9816cf35
16:89345562 ANKRD11 G>T	16	89345562	89345562	G	T	ANKRD11	c.7388C>A	NM_013275.5	NP_037407.4:p.(Pro2463His)	NC_000016.9:g.89345562G>T	(Likely) pathogenic	1 lab	2a9b59ed51
1:215990391 USH2A C>T	1	215990391	215990391	C	T	USH2A	c.9518G>A	NM_206933.2	NP_996816.2:p.(Cys3173Tyr)	NC_000001.10:g.215990391C>T	VUS	1 lab	2a9c45213d
13:60240831 DIAPH3 C>A	13	60240831	60240831	C	A	DIAPH3	c.3469G>T	NM_001042517.1	NP_001035982.1:p.(Ala1157Ser)	NC_000013.10:g.60240831C>A	VUS	1 lab	2a9d6da756
6:123595807 TRDN T>G	6	123595807	123595807	T	G	TRDN	c.1576A>C	NM_006073.3	NP_006064.2:p.(Ile526Leu)	NC_000006.11:g.123595807T>G	(Likely) benign	1 lab	2aa498252e
16:84066953 SLC38A8 G>C	16	84066953	84066953	G	C	SLC38A8	c.510C>G	NM_001080442.3	NP_001073911.1:p.(Ile170Met)	NC_000016.9:g.84066953G>C	VUS	1 lab	2aabfd3ad2
5:149901270 NDST1 C>T	5	149901270	149901270	C	T	NDST1	c.454C>T	NM_001543.4	NP_001534.1:p.(Arg152Trp)	NC_000005.9:g.149901270C>T	VUS	1 lab	2aad47203f
22:20030915 TANGO2 C>T	22	20030915	20030915	C	T	TANGO2	c.94C>T	NM_152906.6	NP_690870.3:p.(Arg32Ter)	NC_000022.10:g.20030915C>T	(Likely) pathogenic	1 lab	2aad8738db
20:57485424 GNAS C>T	20	57485424	57485424	C	T	GNAS				NC_000020.10:g.57485424C>T	(Likely) pathogenic	1 lab	2aae53183c
18:44098158 LOXHD1 A>T	18	44098158	44098158	A	T	LOXHD1				NC_000018.9:g.44098158A>T	VUS	1 lab	2ab09b44d8
7:100275037 GNB2 A>G	7	100275037	100275037	A	G	GNB2	c.266A>G	NM_005273.4	NP_005264.2:p.(Lys89Arg)	NC_000007.13:g.100275037A>G	(Likely) pathogenic	1 lab	2ab81bd960
1:229567862 ACTA1 C>T	1	229567862	229567862	C	T	ACTA1	c.687G>A	NM_001100.3	NP_001091.1:p.(Met229Ile)	NC_000001.10:g.229567862C>T	(Likely) pathogenic	1 lab	2abe080974
X:7175555 STS C>T	X	7175555	7175555	C	T	STS	c.323C>T	NM_000351.5	NP_000342.2:p.(Ser108Leu)	NC_000023.10:g.7175555C>T	(Likely) pathogenic	1 lab	2ac24e1d55
18:2666887 SMCHD1 G>A	18	2666887	2666887	G	A	SMCHD1	c.281G>A	NM_015295.2	NP_056110.2:p.(Gly94Glu)	NC_000018.9:g.2666887G>A	VUS	1 lab	2ac29b56ac
6:7542192 DSP G>A	6	7542192	7542192	G	A	DSP	c.44G>A	NM_004415.3	NP_004406.2:p.(Gly15Asp)	NC_000006.11:g.7542192G>A	VUS	1 lab	2ac3d3fd36
1:179521760 AXDND1 G>A	1	179521760	179521760	G	A	AXDND1				NC_000001.10:g.179521760G>A	(Likely) pathogenic	1 lab	2ac78cba00
3:50231310 GNAT1 T>C	3	50231310	50231310	T	C	GNAT1	c.574T>C	NM_144499.3	NP_653082.1:p.(Phe192Leu)	NC_000003.11:g.50231310T>C	VUS	1 lab	2ac994787d
3:32200429 GPD1L C>T	3	32200429	32200429	C	T	GPD1L	c.680C>T	NM_015141.3	NP_055956.1:p.(Ala227Val)	NC_000003.11:g.32200429C>T	VUS	1 lab	2aca779c70
13:39272078 FREM2 C>G	13	39272078	39272078	C	G	FREM2	c.5263+154C>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39272078C>G	(Likely) benign	1 lab	03ae910a83
1:160105367 ATP1A2 C>T	1	160105367	160105367	C	T	ATP1A2	c.2259C>T	NM_000702.3	NP_000693.1:p.(Ala753=)	NC_000001.10:g.160105367C>T	(Likely) benign	1 lab	2ad40c644b
10:50747080 ERCC6 G>T	10	50747080	50747080	G	T	ERCC6	c.-87C>A	NM_000124.3	NP_000115.1:p.?	NC_000010.10:g.50747080G>T	(Likely) benign	1 lab	2ad6aedfe9
16:72991757 ZFHX3 T>TC	16	72991757	72991764	T	TC	ZFHX3	c.2287dup	NM_006885.3	NP_008816.3:p.(Glu763GlyfsTer26)	NC_000016.9:g.72991764dup	VUS	1 lab	2ad89a3ac1
16:88780998 PIEZO1 G>GT	16	88780998	88780999	G	GT	PIEZO1				NC_000016.9:g.88780999dup	VUS	1 lab	2ad90728e9
2:179540676 TTN G>A	2	179540676	179540676	G	A	TTN	c.34425C>T	NM_001267550.2	NP_001254479.2:p.(Pro11475=)	NC_000002.11:g.179540676G>A	(Likely) benign	1 lab	2ad909b37e
X:17742490 NHS C>T	X	17742490	17742490	C	T	NHS	c.1117C>T	NM_198270.2	NP_938011.1:p.(Arg373Ter)	NC_000023.10:g.17742490C>T	(Likely) pathogenic	1 lab	2ada80f39a
11:47353668 MYBPC3 T>C	11	47353668	47353668	T	C	MYBPC3	c.3769A>G	NM_000256.3	NP_000247.2:p.(Asn1257Asp)	NC_000011.9:g.47353668T>C	(Likely) pathogenic	1 lab	2ada8b6bfc
16:1962002 HS3ST6 G>C	16	1962002	1962002	G	C	HS3ST6	c.618C>G	NM_001009606.4	NP_001009606.3:p.(Ala206=)	NC_000016.9:g.1962002G>C	(Likely) benign	1 lab	03aec4d867
11:76873212 MYO7A T>G	11	76873212	76873212	T	G	MYO7A	c.1390T>G	NM_000260.3	NP_000251.3:p.(Phe464Val)	NC_000011.9:g.76873212T>G	VUS	1 lab	2adbd97b22
X:153583344 FLNA C>T	X	153583344	153583344	C	T	FLNA	c.5066G>A	NM_001110556.2	NP_001104026.1:p.(Cys1689Tyr)	NC_000023.10:g.153583344C>T	VUS	1 lab	2adda76708
3:8775678 CAV3 T>C	3	8775678	8775678	T	C	CAV3	c.114+2T>C	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8775678T>C	(Likely) pathogenic	1 lab	2adda7ce12
13:32930759 BRCA2 C>T	13	32930759	32930759	C	T	BRCA2	c.7617+13C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930759C>T	(Likely) benign	1 lab	2adeee1dc1
X:21995237 SMS C>T	X	21995237	21995237	C	T	SMS	c.388C>T	NM_004595.4	NP_004586.2:p.(Arg130Cys)	NC_000023.10:g.21995237C>T	(Likely) pathogenic	1 lab	2adfce2873
10:62631972 RHOBTB1 A>G	10	62631972	62631972	A	G	RHOBTB1	c.1892T>C	NM_001242359.1	NP_001229288.1:p.(Phe631Ser)	NC_000010.10:g.62631972A>G	VUS	1 lab	2ae17051e1
13:32944714 BRCA2 C>T	13	32944714	32944714	C	T	BRCA2	c.8487+20C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944714C>T	(Likely) benign	1 lab	2ae2d37199
14:68219043 ZFYVE26 G>A	14	68219043	68219043	G	A	ZFYVE26	c.7371+18C>T	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68219043G>A	(Likely) benign	1 lab	03af0a4379
7:45104240 CCM2 A>AG	7	45104240	45104241	A	AG	CCM2	c.468dup	NM_031443.3	NP_113631.1:p.(Thr157AspfsTer79)	NC_000007.13:g.45104241dup	(Likely) pathogenic	1 lab	03b49b6a60
12:6128789 VWF C>T	12	6128789	6128789	C	T	VWF	c.3795G>A	NM_000552.3	NP_000543.2:p.(Pro1265=)	NC_000012.11:g.6128789C>T	(Likely) benign	1 lab	2ae751a997
16:56914558 SLC12A3 A>G	16	56914558	56914558	A	G	SLC12A3	c.1567+393A>G	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56914558A>G	(Likely) benign	1 lab	2ae7eacd72
2:44528224 SLC3A1 G>T	2	44528224	44528224	G	T	SLC3A1	c.1094G>T	NM_000341.3	NP_000332.2:p.(Arg365Leu)	NC_000002.11:g.44528224G>T	(Likely) pathogenic	1 lab	2aecbc8054
1:94574256 ABCA4 G>A	1	94574256	94574256	G	A	ABCA4	c.319C>T	NM_000350.2	NP_000341.2:p.(Arg107Ter)	NC_000001.10:g.94574256G>A	(Likely) pathogenic	1 lab	2aeecfbfca
X:591280 SHOX C>G	X	591280	591280	C	G	SHOX	c.-353C>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591280C>G	(Likely) benign	1 lab	2aef4a34c4
5:70952575 MCCC2 G>A	5	70952575	70952575	G	A	MCCC2	c.1580G>A	NM_022132.4	NP_071415.1:p.(Trp527Ter)	NC_000005.9:g.70952575G>A	(Likely) pathogenic	1 lab	2af1df09f5
16:31500585 SLC5A2 AT>A	16	31500585	31500587	AT	A	SLC5A2	c.1593del	NM_003041.4	NP_003032.1:p.(Ile531MetfsTer66)	NC_000016.9:g.31500587del	(Likely) pathogenic	1 lab	2af2f50ca2
5:43613111 NNT C>T	5	43613111	43613111	C	T	NNT				NC_000005.9:g.43613111C>T	(Likely) pathogenic	1 lab	2af62832d2
1:41300706 KCNQ4 G>A	1	41300706	41300706	G	A	KCNQ4	c.1681G>A	NM_004700.3	NP_004691.2:p.(Val561Ile)	NC_000001.10:g.41300706G>A	VUS	1 lab	2af75d63d4
10:89653840 PTEN C>G	10	89653840	89653840	C	G	PTEN	c.138C>G	NM_000314.4	NP_000305.3:p.(Tyr46Ter)	NC_000010.10:g.89653840C>G	(Likely) pathogenic	1 lab	2af770da56
1:161326642 SDHC C>T	1	161326642	161326642	C	T	SDHC	c.405+12C>T	NM_003001.3	NP_002992.1:p.?	NC_000001.10:g.161326642C>T	(Likely) benign	1 lab	2af828bd39
13:20797357 GJB6 G>T	13	20797357	20797357	G	T	GJB6	c.263C>A	NM_006783.4	NP_006774.2:p.(Ala88Glu)	NC_000013.10:g.20797357G>T	(Likely) pathogenic	1 lab	2af8abb534
17:29486063 NF1 T>A	17	29486063	29486063	T	A	NF1	c.240T>A	NM_001042492.3	NP_001035957.1:p.(Tyr80Ter)	NC_000017.10:g.29486063T>A	(Likely) pathogenic	1 lab	2afd0d10c1
4:111542251 PITX2 T>C	4	111542251	111542251	T	C	PITX2	c.390+69A>G	NM_153426.2	NP_700475.1:p.?	NC_000004.11:g.111542251T>C	(Likely) benign	1 lab	2afe2fe654
3:128200720 GATA2 C>T	3	128200720	128200720	C	T	GATA2	c.1085G>A	NM_032638.5	NP_116027.2:p.(Arg362Gln)	NC_000003.11:g.128200720C>T	(Likely) pathogenic	1 lab	2b006ef1c3
16:9934645 GRIN2A G>A	16	9934645	9934645	G	A	GRIN2A	c.1510C>T	NM_001134407.3	NP_001127879.1:p.(Arg504Trp)	NC_000016.9:g.9934645G>A	(Likely) pathogenic	1 lab	2b08bc242e
2:220283253 DES C>T	2	220283253	220283253	C	T	DES	c.69C>T	NM_001927.3	NP_001918.3:p.(Gly23=)	NC_000002.11:g.220283253C>T	(Likely) benign	1 lab	2b08c2aa09
3:47163376 SETD2 C>CT	3	47163376	47163383	C	CT	SETD2				NC_000003.11:g.47163383dup	(Likely) pathogenic	1 lab	2b092b3911
7:42018346 GLI3 T>C	7	42018346	42018346	T	C	GLI3	c.1499A>G	NM_000168.6	NP_000159.3:p.(His500Arg)	NC_000007.13:g.42018346T>C	VUS	1 lab	2b094e4fb7
1:171080091 FMO3 G>A	1	171080091	171080091	G	A	FMO3	c.780G>A	NM_001002294.3	NP_001002294.1:p.(Met260Ile)	NC_000001.10:g.171080091G>A	VUS	1 lab	2b09f76cf9
16:89169066 ACSF3 G>C	16	89169066	89169066	G	C	ACSF3	c.721G>C	NM_174917.3	NP_777577.2:p.(Val241Leu)	NC_000016.9:g.89169066G>C	(Likely) benign	1 lab	2b0c927199
13:25457207 CENPJ T>C	13	25457207	25457207	T	C	CENPJ				NC_000013.10:g.25457207T>C	(Likely) benign	1 lab	2b1082fb96
15:59516798 MYO1E C>G	15	59516798	59516798	C	G	MYO1E	c.777+90G>C	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59516798C>G	(Likely) benign	1 lab	03b6c72c84
9:36840644 PAX5 C>T	9	36840644	36840644	C	T	PAX5	c.1100-11G>A	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36840644C>T	(Likely) benign	1 lab	03b76af1e2
20:42788624 JPH2 T>G	20	42788624	42788624	T	G	JPH2	c.803A>C	NM_020433.4	NP_065166.2:p.(Glu268Ala)	NC_000020.10:g.42788624T>G	(Likely) benign	1 lab	2b1704eba9
17:62022988 SCN4A T>C	17	62022988	62022988	T	C	SCN4A	c.3452A>G	NM_000334.4	NP_000325.4:p.(Asn1151Ser)	NC_000017.10:g.62022988T>C	(Likely) pathogenic	1 lab	2b174648cd
10:89624175 PTEN G>A	10	89624175	89624175	G	A	PTEN	c.-52G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624175G>A	(Likely) benign	1 lab	2b1f2ff178
19:6709782 C3 C>T	19	6709782	6709782	C	T	C3	c.1758G>A	NM_000064.3	NP_000055.2:p.(Glu586=)	NC_000019.9:g.6709782C>T	VUS	1 lab	e908e1b7d3
2:145187439 ZEB2 TTGGCTCACGTG>T	2	145187439	145187453	TTGGCTCACGTG	T	ZEB2	c.217_227del	NM_014795.3	NP_055610.1:p.(His73SerfsTer11)	NC_000002.11:g.145187443_145187453del	(Likely) pathogenic	1 lab	2b200d90de
11:4112870 STIM1 C>T	11	4112870	4112870	C	T	STIM1	c.2218C>T	NM_001277961.1	NP_001264890.1:p.(Arg740Ter)	NC_000011.9:g.4112870C>T	VUS	1 lab	2b240d628b
11:76914162 MYO7A C>A	11	76914162	76914162	C	A	MYO7A	c.5226C>A	NM_000260.3	NP_000251.3:p.(Asp1742Glu)	NC_000011.9:g.76914162C>A	VUS	1 lab	2b25af6935
6:36260914 PNPLA1 C>T	6	36260914	36260914	C	T	PNPLA1	c.504+11C>T	NM_001145717.1	NP_001139189.2:p.?	NC_000006.11:g.36260914C>T	(Likely) benign	1 lab	2b27bc7574
2:38302390 CYP1B1 G>C	2	38302390	38302390	G	C	CYP1B1	c.142C>G	NM_000104.3	NP_000095.2:p.(Arg48Gly)	NC_000002.11:g.38302390G>C	(Likely) benign	1 lab	2b27cecd1a
5:37064647 NIPBL C>T	5	37064647	37064647	C	T	NIPBL	c.8068C>T	NM_133433.3	NP_597677.2:p.(Arg2690Ter)	NC_000005.9:g.37064647C>T	VUS	1 lab	2b29c1f8a0
3:135969390 PCCB A>C	3	135969390	135969390	A	C	PCCB	c.173A>C	NM_001178014.1	NP_001171485.1:p.(Gln58Pro)	NC_000003.11:g.135969390A>C	(Likely) pathogenic	1 lab	2b2adc3c6d
2:39233678 SOS1 GA>G	2	39233678	39233686	GA	G	SOS1	c.2674-9del	NM_005633.3	NP_005624.2:p.?	NC_000002.11:g.39233686del	(Likely) benign	1 lab	2b2e445317
11:89017955 TYR G>T	11	89017955	89017955	G	T	TYR				NC_000011.9:g.89017955G>T	(Likely) pathogenic	1 lab	2b3037f555
14:69349647 ACTN1 C>T	14	69349647	69349647	C	T	ACTN1	c.1761G>A	NM_001130004.1	NP_001123476.1:p.(Ala587=)	NC_000014.8:g.69349647C>T	VUS	1 lab	2b303e308c
1:6267574 RNF207 A>T	1	6267574	6267574	A	T	RNF207	c.324+3A>T	NM_207396.3	NP_997279.2:p.?	NC_000001.10:g.6267574A>T	VUS	1 lab	03b9c97a7d
15:91565804 VPS33B A>G	15	91565804	91565804	A	G	VPS33B	c.-325T>C	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91565804A>G	(Likely) benign	1 lab	2b34232690
3:189526254 TP63 G>T	3	189526254	189526254	G	T	TP63	c.518G>T	NM_003722.4	NP_003713.3:p.(Gly173Val)	NC_000003.11:g.189526254G>T	(Likely) pathogenic	1 lab	2b361aca50
9:75407236 TMC1 C>T	9	75407236	75407236	C	T	TMC1	c.1534C>T	NM_138691.2	NP_619636.2:p.(Arg512Ter)	NC_000009.11:g.75407236C>T	(Likely) pathogenic	1 lab	2b39d20f03
2:74593988 DCTN1 C>G	2	74593988	74593988	C	G	DCTN1	c.2388G>C	NM_004082.5	NP_004073.2:p.(Gln796His)	NC_000002.11:g.74593988C>G	VUS	1 lab	2b39f6669c
3:178938934 PIK3CA G>A	3	178938934	178938934	G	A	PIK3CA	c.2176G>A	NM_006218.4	NP_006209.2:p.(Glu726Lys)	NC_000003.11:g.178938934G>A	(Likely) pathogenic	1 lab	2b3bd1ef0e
X:9656130 TBL1X A>G	X	9656130	9656130	A	G	TBL1X	c.431A>G	NM_005647.3	NP_005638.1:p.(Gln144Arg)	NC_000023.10:g.9656130A>G	VUS	1 lab	2b41d2e5fd
19:50755990 MYH14 C>T	19	50755990	50755990	C	T	MYH14	c.1925C>T	NM_001145809.1	NP_001139281.1:p.(Thr642Met)	NC_000019.9:g.50755990C>T	VUS	1 lab	2b4ae7e999
21:34655565 IL10RB C>A	21	34655565	34655565	C	A	IL10RB				NC_000021.8:g.34655565C>A	(Likely) benign	1 lab	03bc39907c
12:89865448 POC1B C>G	12	89865448	89865448	C	G	POC1B	c.619G>C	NM_172240.2	NP_758440.1:p.(Asp207His)	NC_000012.11:g.89865448C>G	VUS	1 lab	2b4d0e94bc
X:70361206 MED12 C>A	X	70361206	70361206	C	A	MED12	c.6394C>A	NM_005120.3	NP_005111.2:p.(Gln2132Lys)	NC_000023.10:g.70361206C>A	VUS	1 lab	2b4fc15ceb
15:60795791 RORA G>A	15	60795791	60795791	G	A	RORA	c.1018C>T	NM_134261.3	NP_599023.1:p.(Arg340Cys)	NC_000015.9:g.60795791G>A	(Likely) pathogenic	1 lab	2b4fd632e5
19:36223747 KMT2B A>G	19	36223747	36223747	A	G	KMT2B	c.6297A>G	NM_014727.2	NP_055542.1:p.(Ala2099=)	NC_000019.9:g.36223747A>G	(Likely) benign	1 lab	2b537387cb
7:114292289 FOXP2 C>T	7	114292289	114292289	C	T	FOXP2	c.1201C>T	NM_148898.3	NP_683696.2:p.(Arg401Ter)	NC_000007.13:g.114292289C>T	(Likely) pathogenic	1 lab	2b58f724e7
2:179454434 TTN T>G	2	179454434	179454434	T	G	TTN	c.62018A>C	NM_001267550.2	NP_001254479.2:p.(Glu20673Ala)	NC_000002.11:g.179454434T>G	VUS	1 lab	2b59c67f74
5:178413690 GRM6 C>T	5	178413690	178413690	C	T	GRM6	c.1565G>A	NM_000843.3	NP_000834.2:p.(Cys522Tyr)	NC_000005.9:g.178413690C>T	VUS	1 lab	2b5ae76480
15:73615027 HCN4 C>T	15	73615027	73615027	C	T	HCN4	c.3407G>A	NM_005477.3	NP_005468.1:p.(Gly1136Asp)	NC_000015.9:g.73615027C>T	(Likely) benign	1 lab	2b5d38d609
8:38008406 STAR C>A	8	38008406	38008406	C	A	STAR	c.-70G>T	NM_000349.2	NP_000340.2:p.?	NC_000008.10:g.38008406C>A	(Likely) benign	1 lab	2b5f535797
19:12987044 DNASE2 G>A	19	12987044	12987044	G	A	DNASE2	c.843C>T	NM_001375.3	NP_001366.1:p.(Phe281=)	NC_000019.9:g.12987044G>A	(Likely) benign	1 lab	03be76abf4
12:48380968 COL2A1 A>C	12	48380968	48380968	A	C	COL2A1	c.1267-9T>G	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48380968A>C	VUS	1 lab	2b5f6a0b71
X:585066 SHOX G>A	X	585066	585066	G	A	SHOX				NC_000023.10:g.585066G>A	(Likely) benign	1 lab	2b5ff3528d
1:228407117 OBSCN C>G	1	228407117	228407117	C	G	OBSCN	c.2746C>G	NM_001271223.2	NP_001258152.2:p.(Gln916Glu)	NC_000001.10:g.228407117C>G	(Likely) benign	1 lab	2b667afb72
2:179399027 TTN A>C	2	179399027	179399027	A	C	TTN	c.102315T>G	NM_001267550.2	NP_001254479.2:p.(Val34105=)	NC_000002.11:g.179399027A>C	(Likely) benign	1 lab	2b6b8b2d73
10:104596924 CYP17A1 C>A	10	104596924	104596924	C	A	CYP17A1	c.195G>T	NM_000102.3	NP_000093.1:p.(Ser65=)	NC_000010.10:g.104596924C>A	(Likely) benign	1 lab	2b6cc734cb
17:57775086 PTRH2 T>G	17	57775086	57775086	T	G	PTRH2	c.254A>C	NM_016077.3	NP_057161.1:p.(Gln85Pro)	NC_000017.10:g.57775086T>G	VUS	1 lab	2b7220075d
11:108196906 ATM G>A	11	108196906	108196906	G	A	ATM	c.6929G>A	NM_000051.4	NP_000042.3:p.(Ser2310Asn)	NC_000011.9:g.108196906G>A	(Likely) benign	1 lab	2b7277717e
2:167277797 SCN7A A>C	2	167277797	167277797	A	C	SCN7A	c.3038T>G	NM_002976.4	NP_002967.2:p.(Leu1013Arg)	NC_000002.11:g.167277797A>C	(Likely) benign	1 lab	2b73681981
11:44257852 EXT2 C>T	11	44257852	44257852	C	T	EXT2				NC_000011.9:g.44257852C>T	VUS	1 lab	e90b53edbf
13:23911240 SACS G>A	13	23911240	23911240	G	A	SACS	c.6775C>T	NM_014363.5	NP_055178.3:p.(Pro2259Ser)	NC_000013.10:g.23911240G>A	VUS	1 lab	2b73f8f8b8
17:29562757 NF1 C>G	17	29562757	29562757	C	G	NF1	c.3837C>G	NM_000267.3	NP_000258.1:p.(Ser1279Arg)	NC_000017.10:g.29562757C>G	VUS	1 lab	2b75c4f1d2
4:6303850 WFS1 G>T	4	6303850	6303850	G	T	WFS1	c.2328G>T	NM_006005.3	NP_005996.2:p.(Glu776Asp)	NC_000004.11:g.6303850G>T	VUS	1 lab	2b761df41d
16:29001171 LAT C>T	16	29001171	29001171	C	T	LAT	c.622+11C>T	NM_001014987.2	NP_001014987.1:p.?	NC_000016.9:g.29001171C>T	(Likely) benign	1 lab	03bec50cad
3:49760848 GMPPB C>T	3	49760848	49760848	C	T	GMPPB	c.187G>A	NM_021971.1	NP_068806.1:p.(Glu63Lys)	NC_000003.11:g.49760848C>T	VUS	1 lab	2b797fa55b
1:169525925 F5 C>T	1	169525925	169525925	C	T	F5	c.911G>A	NM_000130.4	NP_000121.2:p.(Gly304Glu)	NC_000001.10:g.169525925C>T	(Likely) pathogenic	1 lab	2b7d4eaeab
16:732216 STUB1 C>T	16	732216	732216	C	T	STUB1	c.721C>T	NM_005861.4	NP_005852.2:p.(Arg241Trp)	NC_000016.9:g.732216C>T	VUS	1 lab	2b7e83f4e8
11:61723221 BEST1 G>C	11	61723221	61723221	G	C	BEST1	c.279G>C	NM_004183.3	NP_004174.1:p.(Trp93Cys)	NC_000011.9:g.61723221G>C	(Likely) pathogenic	1 lab	2b83daf448
18:33846769 MOCOS C>T	18	33846769	33846769	C	T	MOCOS	c.2467C>T	NM_017947.3	NP_060417.3:p.(Arg823Ter)	NC_000018.9:g.33846769C>T	(Likely) pathogenic	1 lab	2b849c6755
2:167094624 SCN9A G>A	2	167094624	167094624	G	A	SCN9A	c.3781C>T	NM_001365536.1	NP_001352465.1:p.(Leu1261=)	NC_000002.11:g.167094624G>A	(Likely) benign	1 lab	2b86ffb49f
12:133252796 POLE C>G	12	133252796	133252796	C	G	POLE	c.910-6G>C	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133252796C>G	(Likely) benign	1 lab	2b8a08408e
10:104835900 CNNM2 G>A	10	104835900	104835900	G	A	CNNM2	c.2291G>A	NM_017649.4	NP_060119.3:p.(Arg764Gln)	NC_000010.10:g.104835900G>A	VUS	1 lab	2b8a7af8ca
5:176637956 NSD1 A>G	5	176637956	176637956	A	G	NSD1				NC_000005.9:g.176637956A>G	(Likely) benign	1 lab	2b8b850c12
10:17271972 VIM G>A	10	17271972	17271972	G	A	VIM	c.551G>A	NM_003380.5	NP_003371.2:p.(Arg184His)	NC_000010.10:g.17271972G>A	VUS	1 lab	2b8c02f87c
8:38279354 FGFR1 C>G	8	38279354	38279354	C	G	FGFR1	c.1042G>C	NM_023110.2	NP_075598.2:p.(Gly348Arg)	NC_000008.10:g.38279354C>G	(Likely) pathogenic	1 lab	2b926bfa0d
22:38508553 PLA2G6 C>G	22	38508553	38508553	C	G	PLA2G6	c.2234G>C	NM_003560.4	NP_003551.2:p.(Arg745Pro)	NC_000022.10:g.38508553C>G	VUS	1 lab	2b9344b895
2:74688854 MOGS C>T	2	74688854	74688854	C	T	MOGS	c.2062G>A	NM_006302.2	NP_006293.2:p.(Ala688Thr)	NC_000002.11:g.74688854C>T	VUS	1 lab	2b9b402333
X:128640152 SMARCA1 G>A	X	128640152	128640152	G	A	SMARCA1	c.1003C>T	NM_001282874.2	NP_001269803.1:p.(Arg335Cys)	NC_000023.10:g.128640152G>A	VUS	1 lab	2ba03f6ade
17:48653658 CACNA1G T>G	17	48653658	48653658	T	G	CACNA1G	c.1895T>G	NM_018896.4	NP_061496.2:p.(Met632Arg)	NC_000017.10:g.48653658T>G	VUS	1 lab	2ba11f8ddc
17:41277384 BRCA1 G>A	17	41277384	41277384	G	A	BRCA1	c.-116C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277384G>A	(Likely) benign	1 lab	2ba16d667d
1:237814761 RYR2 A>G	1	237814761	237814761	A	G	RYR2	c.7784A>G	NM_001035.3	NP_001026.2:p.(Asp2595Gly)	NC_000001.10:g.237814761A>G	VUS	1 lab	2ba4c8698b
15:51630690 CYP19A1 A>G	15	51630690	51630690	A	G	CYP19A1	c.-148+2T>C	NM_031226.2	NP_112503.1:p.?	NC_000015.9:g.51630690A>G	VUS	1 lab	2ba6151269
16:23614866 PALB2 A>G	16	23614866	23614866	A	G	PALB2	c.3475T>C	NM_024675.4	NP_078951.2:p.(Trp1159Arg)	NC_000016.9:g.23614866A>G	VUS	1 lab	2ba6929ad8
1:218609451 TGFB2 G>A	1	218609451	218609451	G	A	TGFB2	c.978G>A	NM_001135599.3	NP_001129071.1:p.(Arg326=)	NC_000001.10:g.218609451G>A	(Likely) benign	1 lab	2ba86e66ad
16:2138596 TSC2 C>A	16	2138596	2138596	C	A	TSC2	c.5409C>A	NM_000548.4	NP_000539.2:p.(Phe1803Leu)	NC_000016.9:g.2138596C>A	VUS	1 lab	2ba9c04ca7
19:49671545 TRPM4 C>G	19	49671545	49671545	C	G	TRPM4	c.477C>G	NM_017636.4	NP_060106.2:p.(His159Gln)	NC_000019.9:g.49671545C>G	(Likely) benign	1 lab	2baa5e1cd5
X:107850121 COL4A5 A>G	X	107850121	107850121	A	G	COL4A5	c.2394A>G	NM_033380.2	NP_203699.1:p.(Lys798=)	NC_000023.10:g.107850121A>G	(Likely) pathogenic	1 lab	2babc52439
1:197316444 CRB1 A>G	1	197316444	197316444	A	G	CRB1	c.849-26A>G	NM_201253.3	NP_957705.1:p.?	NC_000001.10:g.197316444A>G	VUS	1 lab	2bb0dabb15
10:16930513 CUBN G>A	10	16930513	16930513	G	A	CUBN	c.8808C>T	NM_001081.3	NP_001072.2:p.(Tyr2936=)	NC_000010.10:g.16930513G>A	(Likely) benign	1 lab	03c3ee81e6
8:145700069 FOXH1 C>T	8	145700069	145700069	C	T	FOXH1	c.650G>A	NM_003923.3	NP_003914.1:p.(Trp217Ter)	NC_000008.10:g.145700069C>T	(Likely) pathogenic	1 lab	2bb2b17b9c
7:120373070 KCND2 G>C	7	120373070	120373070	G	C	KCND2	c.1229G>C	NM_012281.2	NP_036413.1:p.(Ser410Thr)	NC_000007.13:g.120373070G>C	VUS	1 lab	2bb598f4e1
15:67073710 SMAD6 G>A	15	67073710	67073710	G	A	SMAD6	c.1328G>A	NM_005585.4	NP_005576.3:p.(Arg443His)	NC_000015.9:g.67073710G>A	(Likely) benign	1 lab	2bb64774f3
11:837662 CD151 T>G	11	837662	837662	T	G	CD151	c.615+44T>G	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.837662T>G	(Likely) benign	1 lab	03c408148e
14:64634207 SYNE2 T>C	14	64634207	64634207	T	C	SYNE2	c.16761-6T>C	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64634207T>C	(Likely) benign	1 lab	2bbe655d6c
6:31918903 CFB C>T	6	31918903	31918903	C	T	CFB	c.1856-18C>T	NM_001710.6	NP_001701.2:p.?	NC_000006.11:g.31918903C>T	(Likely) benign	1 lab	2bbf864610
17:41256987 BRCA1 G>C	17	41256987	41256987	G	C	BRCA1	c.213-14C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256987G>C	(Likely) benign	1 lab	2bc1f5956c
6:161132146 PLG C>T	6	161132146	161132146	C	T	PLG	c.330C>T	NM_000301.5	NP_000292.1:p.(Asn110=)	NC_000006.11:g.161132146C>T	(Likely) benign	1 lab	2bc9c5db26
8:68423590 CPA6 A>G	8	68423590	68423590	A	G	CPA6	c.432+186T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68423590A>G	(Likely) benign	1 lab	03c6e7a816
10:68139055 CTNNA3 A>G	10	68139055	68139055	A	G	CTNNA3	c.1587T>C	NM_013266.3	NP_037398.2:p.(Asp529=)	NC_000010.10:g.68139055A>G	(Likely) benign	1 lab	2bcbc68f67
2:179584059 TTN G>A	2	179584059	179584059	G	A	TTN	c.24058C>T	NM_001267550.2	NP_001254479.2:p.(Gln8020Ter)	NC_000002.11:g.179584059G>A	VUS	1 lab	2bcee06a9c
9:2718498 KCNV2 A>G	9	2718498	2718498	A	G	KCNV2	c.759A>G	NM_133497.3	NP_598004.1:p.(Pro253=)	NC_000009.11:g.2718498A>G	(Likely) benign	1 lab	2bcfd52ba9
10:14978546 DCLRE1C C>A	10	14978546	14978546	C	A	DCLRE1C	c.353G>T	NM_001033855.3	NP_001029027.1:p.(Gly118Val)	NC_000010.10:g.14978546C>A	(Likely) pathogenic	1 lab	2bd78f824c
5:1279444 TERT G>A	5	1279444	1279444	G	A	TERT	c.2092C>T	NM_198253.2	NP_937983.2:p.(Arg698Trp)	NC_000005.9:g.1279444G>A	VUS	1 lab	2bdd577aaa
10:112581566 RBM20 G>A	10	112581566	112581566	G	A	RBM20	c.3189G>A	NM_001134363.2	NP_001127835.2:p.(Val1063=)	NC_000010.10:g.112581566G>A	(Likely) benign	1 lab	2bdd80bb9f
X:18690134 RS1 T>C	X	18690134	18690134	T	C	RS1	c.52+3A>G	NM_000330.3	NP_000321.1:p.?	NC_000023.10:g.18690134T>C	VUS	1 lab	2bde358758
14:57271024 OTX2 G>T	14	57271024	57271024	G	T	OTX2	c.155C>A	NM_021728.3	NP_068374.1:p.(Thr52Lys)	NC_000014.8:g.57271024G>T	VUS	1 lab	2be09538d9
3:48605534 COL7A1 G>A	3	48605534	48605534	G	A	COL7A1	c.7864C>T	NM_000094.3	NP_000085.1:p.(Arg2622Trp)	NC_000003.11:g.48605534G>A	(Likely) pathogenic	1 lab	2be0bdbfbb
14:75002662 LTBP2 CCT>C	14	75002662	75002664	CCT	C	LTBP2	c.1829_1830del	NM_000428.3	NP_000419.1:p.(Gln610ArgfsTer100)	NC_000014.8:g.75002663_75002664del	(Likely) pathogenic	1 lab	2be0c31a2f
5:149758605 TCOF1 G>A	5	149758605	149758605	G	A	TCOF1	c.2478G>A	NM_001135243.1	NP_001128715.1:p.(Lys826=)	NC_000005.9:g.149758605G>A	(Likely) pathogenic	1 lab	2be0dd1349
14:50623698 SOS2 A>T	14	50623698	50623698	A	T	SOS2	c.2057+19T>A	NM_006939.3	NP_008870.2:p.?	NC_000014.8:g.50623698A>T	(Likely) benign	1 lab	2be1de90a8
6:32008181 CYP21A2 A>C	6	32008181	32008181	A	C	CYP21A2	c.940-2A>C	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32008181A>C	(Likely) pathogenic	1 lab	2be2121031
12:110221576 TRPV4 C>T	12	110221576	110221576	C	T	TRPV4	c.2466G>A	NM_021625.5	NP_067638.3:p.(Trp822Ter)	NC_000012.11:g.110221576C>T	VUS	1 lab	2be5b1c90f
22:19753525 TBX1 G>A	22	19753525	19753525	G	A	TBX1	c.1009G>A	NM_080647.1	NP_542378.1:p.(Asp337Asn)	NC_000022.10:g.19753525G>A	VUS	1 lab	2be5eca04f
7:30739551 CRHR2 T>C	7	30739551	30739551	T	C	CRHR2	c.-261+9A>G	NM_001202481.1	NP_001189410.1:p.?	NC_000007.13:g.30739551T>C	(Likely) benign	1 lab	03d7f92f6e
12:2797803 CACNA1C G>T	12	2797803	2797803	G	T	CACNA1C	c.6224G>T	NM_199460.3	NP_955630.3:p.(Cys2075Phe)	NC_000012.11:g.2797803G>T	(Likely) benign	1 lab	2be8360d87
10:89692965 PTEN A>G	10	89692965	89692965	A	G	PTEN	c.449A>G	NM_000314.8	NP_000305.3:p.(Glu150Gly)	NC_000010.10:g.89692965A>G	(Likely) pathogenic	1 lab	2bea0e7c7f
1:201331551 TNNT2 C>T	1	201331551	201331551	C	T	TNNT2	c.571-29G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201331551C>T	(Likely) benign	1 lab	2befa89f40
6:33131555 COL11A2 A>C	6	33131555	33131555	A	C	COL11A2	c.5111T>G	NM_080680.2	NP_542411.2:p.(Val1704Gly)	NC_000006.11:g.33131555A>C	VUS	1 lab	2bf05ada56
1:247587530 NLRP3 G>C	1	247587530	247587530	G	C	NLRP3	c.779G>C	NM_001243133.2	NP_001230062.1:p.(Arg260Pro)	NC_000001.10:g.247587530G>C	(Likely) pathogenic	1 lab	03d949a133
9:129453239 LMX1B C>T	9	129453239	129453239	C	T	LMX1B	c.451C>T	NM_002316.3	NP_002307.2:p.(Arg151Cys)	NC_000009.11:g.129453239C>T	(Likely) benign	1 lab	2bf313ed31
12:110019275 MVK C>G	12	110019275	110019275	C	G	MVK	c.447C>G	NM_000431.2	NP_000422.1:p.(Tyr149Ter)	NC_000012.11:g.110019275C>G	(Likely) pathogenic	1 lab	03da1421a8
10:88476154 LDB3 C>T	10	88476154	88476154	C	T	LDB3	c.1302C>T	NM_007078.2	NP_009009.1:p.(Ala434=)	NC_000010.10:g.88476154C>T	(Likely) benign	1 lab	2bf5265181
20:39317348 MAFB C>A	20	39317348	39317348	C	A	MAFB	c.143G>T	NM_005461.5	NP_005452.2:p.(Arg48Leu)	NC_000020.10:g.39317348C>A	VUS	1 lab	03de0f0045
15:57565289 TCF12 C>T	15	57565289	57565289	C	T	TCF12	c.1807C>T	NM_207036.1	NP_996919.1:p.(Arg603Trp)	NC_000015.9:g.57565289C>T	VUS	1 lab	2bf5ace683
15:99434725 IGF1R T>C	15	99434725	99434725	T	C	IGF1R	c.812T>C	NM_000875.4	NP_000866.1:p.(Phe271Ser)	NC_000015.9:g.99434725T>C	VUS	1 lab	2bf77b8d25
6:73751788 KCNQ5 G>A	6	73751788	73751788	G	A	KCNQ5	c.616+3G>A	NM_019842.4	NP_062816.2:p.?	NC_000006.11:g.73751788G>A	VUS	1 lab	2bf948ee78
10:95422795 PDE6C G>A	10	95422795	95422795	G	A	PDE6C	c.2378G>A	NM_006204.3	NP_006195.3:p.(Arg793Gln)	NC_000010.10:g.95422795G>A	VUS	1 lab	2bff3ce241
12:14018858 GRIN2B CT>C	12	14018858	14018859	CT	C	GRIN2B	c.284del	NM_000834.5	NP_000825.2:p.(Gln95ArgfsTer38)	NC_000012.11:g.14018859del	(Likely) pathogenic	1 lab	2bff5c691b
2:32362208 SPAST G>A	2	32362208	32362208	G	A	SPAST				NC_000002.11:g.32362208G>A	VUS	1 lab	2c02d22e19
12:9010681 A2ML1 C>T	12	9010681	9010681	C	T	A2ML1	c.3247C>T	NM_144670.4	NP_653271.2:p.(Leu1083Phe)	NC_000012.11:g.9010681C>T	(Likely) benign	1 lab	2c0558ec8d
6:157099231 ARID1B C>G	6	157099231	157099231	C	G	ARID1B	c.417C>G	NM_001371656.1	NP_001358585.1:p.(Gly139=)	NC_000006.11:g.157099231C>G	(Likely) benign	1 lab	03dea801df
8:30969220 WRN C>CT	8	30969220	30969221	C	CT	WRN				NC_000008.10:g.30969221dup	(Likely) pathogenic	1 lab	2c0980b5aa
9:98239107 PTCH1 CACACCA>C	9	98239107	98239120	CACACCA	C	PTCH1	c.1530_1535del	NM_000264.3	NP_000255.2:p.(Gly511_Val512del)	NC_000009.11:g.98239115_98239120del	(Likely) pathogenic	1 lab	2c09c32892
9:73233870 TRPM3 G>A	9	73233870	73233870	G	A	TRPM3	c.2346C>T	NM_001366147.2	NP_001353076.1:p.(Arg782=)	NC_000009.11:g.73233870G>A	(Likely) benign	1 lab	03e6724ead
1:27876565 AHDC1 G>A	1	27876565	27876565	G	A	AHDC1	c.2062C>T	NM_001029882.2	NP_001025053.1:p.(Arg688Ter)	NC_000001.10:g.27876565G>A	(Likely) pathogenic	1 lab	2c1255b7e9
5:112176032 APC TC>T	5	112176032	112176033	TC	T	APC	c.4742del	NM_000038.6	NP_000029.2:p.(Ser1581LeufsTer69)	NC_000005.9:g.112176033del	(Likely) pathogenic	1 lab	2c12890f72
1:46657984 POMGNT1 T>C	1	46657984	46657984	T	C	POMGNT1	c.1409A>G	NM_017739.4	NP_060209.4:p.(Glu470Gly)	NC_000001.10:g.46657984T>C	VUS	1 lab	2c132e45d7
2:47702411 MSH2 T>C	2	47702411	47702411	T	C	MSH2	c.2005+2T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702411T>C	(Likely) pathogenic	1 lab	2c138a63f0
11:2869333 KCNQ1 AGAG>A	11	2869333	2869336	AGAG	A	KCNQ1	c.*101_*103del	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2869334_2869336del	(Likely) benign	1 lab	2c15ac11a7
16:23634274 PALB2 T>G	16	23634274	23634274	T	G	PALB2	c.2996+16A>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23634274T>G	(Likely) benign	1 lab	2c1b1d0346
6:64574192 EYS A>T	6	64574192	64574192	A	T	EYS	c.7115T>A	NM_001142800.1	NP_001136272.1:p.(Phe2372Tyr)	NC_000006.11:g.64574192A>T	VUS	1 lab	2c1b292dc8
13:32915356 BRCA2 C>G	13	32915356	32915356	C	G	BRCA2	c.6841+23C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915356C>G	(Likely) benign	1 lab	2c1b43b4c0
12:6128747 VWF G>A	12	6128747	6128747	G	A	VWF	c.3837C>T	NM_000552.3	NP_000543.2:p.(Val1279=)	NC_000012.11:g.6128747G>A	(Likely) benign	1 lab	2c1c080403
21:45752958 CFAP410 C>T	21	45752958	45752958	C	T	CFAP410	c.331G>A	NM_001271441.1	NP_001258370.1:p.(Val111Met)	NC_000021.8:g.45752958C>T	VUS	1 lab	2c20299b20
12:49434763 KMT2D CT>C	12	49434763	49434764	CT	C	KMT2D	c.6789del	NM_003482.4	NP_003473.3:p.(Gly2265GlufsTer21)	NC_000012.11:g.49434764del	(Likely) pathogenic	1 lab	2c25d3d8ff
12:6690875 CHD4 G>T	12	6690875	6690875	G	T	CHD4	c.4621C>A	NM_001273.5	NP_001264.2:p.(Pro1541Thr)	NC_000012.11:g.6690875G>T	VUS	1 lab	2c2705521d
4:114277170 ANK2 C>T	4	114277170	114277170	C	T	ANK2	c.7396C>T	NM_001148.5	NP_001139.3:p.(Arg2466Cys)	NC_000004.11:g.114277170C>T	(Likely) benign	1 lab	2c27d3e08c
2:28974888 PPP1CB G>T	2	28974888	28974888	G	T	PPP1CB	c.-87-16G>T	NM_206876.1	NP_996759.1:p.?	NC_000002.11:g.28974888G>T	(Likely) benign	1 lab	2c29f11152
2:228148945 COL4A3 G>T	2	228148945	228148945	G	T	COL4A3	c.2765G>T	NM_000091.4	NP_000082.2:p.(Gly922Val)	NC_000002.11:g.228148945G>T	(Likely) pathogenic	1 lab	2c2fbbc990
15:48704815 FBN1 C>T	15	48704815	48704815	C	T	FBN1	c.8177G>A	NM_000138.4	NP_000129.3:p.(Arg2726Gln)	NC_000015.9:g.48704815C>T	(Likely) benign	1 lab	2c3156dc1a
18:43496075 EPG5 G>A	18	43496075	43496075	G	A	EPG5	c.3481C>T	NM_020964.2	NP_066015.2:p.(Arg1161Ter)	NC_000018.9:g.43496075G>A	(Likely) pathogenic	1 lab	2c32d11e8c
8:75272432 GDAP1 A>G	8	75272432	75272432	A	G	GDAP1	c.371A>G	NM_018972.2	NP_061845.2:p.(Tyr124Cys)	NC_000008.10:g.75272432A>G	VUS	1 lab	2c357c1bf7
1:241661271 FH C>A	1	241661271	241661271	C	A	FH	c.1391-1G>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241661271C>A	(Likely) pathogenic	1 lab	2c358ac347
3:38628895 SCN5A C>T	3	38628895	38628895	C	T	SCN5A	c.2432G>A	NM_001099404.1	NP_001092874.1:p.(Arg811His)	NC_000003.11:g.38628895C>T	(Likely) pathogenic	1 lab	2c38c7be01
17:59560831 TBX4 A>G	17	59560831	59560831	A	G	TBX4	c.1595A>G	NM_001321120.2	NP_001308049.1:p.(Gln532Arg)	NC_000017.10:g.59560831A>G	(Likely) pathogenic	1 lab	2c3952c9b1
4:77675599 SHROOM3 C>A	4	77675599	77675599	C	A	SHROOM3	c.3963C>A	NM_020859.3	NP_065910.3:p.(Asp1321Glu)	NC_000004.11:g.77675599C>A	(Likely) benign	1 lab	2c39bf5297
2:47709117 MSH2 C>G	2	47709117	47709117	C	G	MSH2	c.2635-801C>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47709117C>G	(Likely) benign	1 lab	2c3bc9c2cd
16:1504437 CLCN7 C>T	16	1504437	1504437	C	T	CLCN7	c.1128G>A	NM_001287.5	NP_001278.1:p.(Pro376=)	NC_000016.9:g.1504437C>T	(Likely) benign	1 lab	2c3cde08e9
17:6597517 SLC13A5 C>T	17	6597517	6597517	C	T	SLC13A5	c.1056-1G>A	NM_177550.5	NP_808218.1:p.?	NC_000017.10:g.6597517C>T	(Likely) pathogenic	1 lab	0e801ce216
1:1735941 GNB1 C>T	1	1735941	1735941	C	T	GNB1	c.347G>A	NM_002074.5	NP_002065.1:p.(Gly116Asp)	NC_000001.10:g.1735941C>T	(Likely) pathogenic	1 lab	2c4558e2c9
1:236850049 ACTN2 T>C	1	236850049	236850049	T	C	ACTN2	c.76T>C	NM_001103.2	NP_001094.1:p.(Trp26Arg)	NC_000001.10:g.236850049T>C	VUS	1 lab	2c455fe4f4
17:17131201 FLCN G>A	17	17131201	17131201	G	A	FLCN	c.249+2C>T	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17131201G>A	VUS	1 lab	2c457d82eb
5:1278791 TERT C>T	5	1278791	1278791	C	T	TERT	c.2251G>A	NM_198253.2	NP_937983.2:p.(Ala751Thr)	NC_000005.9:g.1278791C>T	VUS	1 lab	2c4646207b
11:108216536 ATM C>T	11	108216536	108216536	C	T	ATM	c.8485C>T	NM_000051.3	NP_000042.3:p.(Pro2829Ser)	NC_000011.9:g.108216536C>T	VUS	1 lab	2c47a57ed5
19:38924507 RYR1 T>G	19	38924507	38924507	T	G	RYR1	c.38T>G	NM_000540.2	NP_000531.2:p.(Leu13Arg)	NC_000019.9:g.38924507T>G	(Likely) pathogenic	1 lab	2c5515d5d8
9:131371477 SPTAN1 C>T	9	131371477	131371477	C	T	SPTAN1				NC_000009.11:g.131371477C>T	(Likely) benign	1 lab	2c55b1a5e6
2:129026289 HS6ST1 G>A	2	129026289	129026289	G	A	HS6ST1	c.683C>T	NM_004807.2	NP_004798.3:p.(Thr228Met)	NC_000002.11:g.129026289G>A	VUS	1 lab	2c58509060
19:40902813 PRX T>G	19	40902813	40902813	T	G	PRX	c.1446A>C	NM_181882.2	NP_870998.2:p.(Pro482=)	NC_000019.9:g.40902813T>G	(Likely) benign	1 lab	2c590ff335
3:97506846 ARL6 G>A	3	97506846	97506846	G	A	ARL6	c.362G>A	NM_032146.5	NP_115522.1:p.(Arg121His)	NC_000003.11:g.97506846G>A	(Likely) pathogenic	1 lab	2c5b43bb38
2:209010498 CRYGB C>T	2	209010498	209010498	C	T	CRYGB	c.252G>A	NM_005210.3	NP_005201.2:p.(Pro84=)	NC_000002.11:g.209010498C>T	(Likely) benign	1 lab	2c62557ce5
5:112176014 APC CTAGAAGAATGTATTAT>C	5	112176014	112176031	CTAGAAGAATGTATTAT	C	APC	c.4725_4740del	NM_000038.6	NP_000029.2:p.(Glu1576LeufsTer69)	NC_000005.9:g.112176016_112176031del	(Likely) pathogenic	1 lab	2c665b0a9d
17:17127263 FLCN G>A	17	17127263	17127263	G	A	FLCN	c.591C>T	NM_144997.7	NP_659434.2:p.(Ile197=)	NC_000017.10:g.17127263G>A	(Likely) benign	1 lab	2c665c506c
6:161970055 PRKN G>A	6	161970055	161970055	G	A	PRKN	c.934-20C>T	NM_004562.2	NP_004553.2:p.?	NC_000006.11:g.161970055G>A	(Likely) benign	1 lab	2c692d1c10
15:68501987 CLN6 C>T	15	68501987	68501987	C	T	CLN6	c.653G>A	NM_017882.3	NP_060352.1:p.(Gly218Asp)	NC_000015.9:g.68501987C>T	VUS	1 lab	2c6a8710d7
1:216380610 USH2A C>G	1	216380610	216380610	C	G	USH2A	c.3316+5G>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216380610C>G	VUS	1 lab	2c6ea993b8
X:77245190 ATP7A C>T	X	77245190	77245190	C	T	ATP7A	c.1072C>T	NM_000052.7	NP_000043.4:p.(Pro358Ser)	NC_000023.10:g.77245190C>T	VUS	1 lab	2c71ec5c5b
15:31354781 TRPM1 C>T	15	31354781	31354781	C	T	TRPM1	c.1140+1G>A	NM_001252020.1	NP_001238949.1:p.?	NC_000015.9:g.31354781C>T	(Likely) pathogenic	1 lab	2c720ea156
1:152281304 FLG A>C	1	152281304	152281304	A	C	FLG	c.6058T>G	NM_002016.1	NP_002007.1:p.(Ser2020Ala)	NC_000001.10:g.152281304A>C	(Likely) benign	1 lab	2c74ac890c
2:16086001 MYCN C>T	2	16086001	16086001	C	T	MYCN	c.1177C>T	NM_005378.4	NP_005369.2:p.(Arg393Cys)	NC_000002.11:g.16086001C>T	(Likely) pathogenic	1 lab	2c756c1960
14:23790680 PABPN1 T>TGGCGGCGGCGGCGGCGGC	14	23790680	23790701	T	TGGCGGCGGCGGCGGCGGC	PABPN1	c.6_23dup	NM_004643.3	NP_004634.1:p.(Ala6_Ala11dup)	NC_000014.8:g.23790684_23790701dup	(Likely) pathogenic	1 lab	03ec5a391e
14:50626608 SOS2 A>C	14	50626608	50626608	A	C	SOS2	c.1393T>G	NM_006939.4	NP_008870.2:p.(Leu465Val)	NC_000014.8:g.50626608A>C	(Likely) benign	1 lab	2c76c9fb1d
11:76893517 MYO7A C>T	11	76893517	76893517	C	T	MYO7A	c.3157C>T	NM_000260.3	NP_000251.3:p.(Pro1053Ser)	NC_000011.9:g.76893517C>T	VUS	1 lab	2c7874b2a1
22:20779604 SCARF2 T>G	22	20779604	20779604	T	G	SCARF2	c.*61A>C	NM_153334.4	NP_699165.2:p.?	NC_000022.10:g.20779604T>G	(Likely) benign	1 lab	2c7b7f7638
5:112173340 APC TTTGTGGAATCTCTCAGCAA>T	5	112173340	112173359	TTTGTGGAATCTCTCAGCAA	T	APC	c.2050_2068del	NM_000038.6	NP_000029.2:p.(Leu684GlufsTer28)	NC_000005.9:g.112173341_112173359del	(Likely) pathogenic	1 lab	2c7b9889ce
2:208992955 CRYGC G>C	2	208992955	208992955	G	C	CRYGC	c.497C>G	NM_020989.3	NP_066269.1:p.(Ser166Cys)	NC_000002.11:g.208992955G>C	VUS	1 lab	2c7c804d03
2:234669483 UGT1A1 A>T	2	234669483	234669483	A	T	UGT1A1	c.550A>T	NM_000463.3	NP_000454.1:p.(Thr184Ser)	NC_000002.11:g.234669483A>T	VUS	1 lab	2c7d737b1f
14:23885056 MYH7 A>G	14	23885056	23885056	A	G	MYH7	c.4954-15T>C	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23885056A>G	(Likely) benign	1 lab	2c8357ec10
X:135288710 FHL1 G>A	X	135288710	135288710	G	A	FHL1	c.119G>A	NM_001159702.2	NP_001153174.1:p.(Cys40Tyr)	NC_000023.10:g.135288710G>A	VUS	1 lab	2c8c5aa738
7:75615006 POR C>T	7	75615006	75615006	C	T	POR	c.1508C>T	NM_000941.2	NP_000932.3:p.(Ala503Val)	NC_000007.13:g.75615006C>T	(Likely) benign	1 lab	2c8c6d0cdc
1:74937847 TNNI3K G>T	1	74937847	74937847	G	T	TNNI3K	c.2121+8613G>T	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74937847G>T	(Likely) benign	1 lab	2c8cdce3a7
X:19369471 PDHA1 G>C	X	19369471	19369471	G	C	PDHA1	c.364G>C	NM_000284.3	NP_000275.1:p.(Gly122Arg)	NC_000023.10:g.19369471G>C	(Likely) pathogenic	1 lab	2c8ea34d8c
3:38946785 SCN11A G>A	3	38946785	38946785	G	A	SCN11A	c.1501C>T	NM_014139.2	NP_054858.2:p.(Leu501=)	NC_000003.11:g.38946785G>A	(Likely) benign	1 lab	2c8eeea4d6
2:179485527 TTN G>A	2	179485527	179485527	G	A	TTN	c.45810C>T	NM_001267550.2	NP_001254479.2:p.(His15270=)	NC_000002.11:g.179485527G>A	(Likely) benign	1 lab	2c90c6056e
2:219922412 IHH C>A	2	219922412	219922412	C	A	IHH	c.320G>T	NM_002181.4	NP_002172.2:p.(Cys107Phe)	NC_000002.11:g.219922412C>A	VUS	1 lab	2c9113f236
7:6037056 PMS2 TGAA>T	7	6037056	6037059	TGAA	T	PMS2	c.706-5_706-3del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037057_6037059del	(Likely) benign	1 lab	00966f2797
15:48830006 FBN1 C>A	15	48830006	48830006	C	A	FBN1	c.539-1G>T	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48830006C>A	(Likely) pathogenic	1 lab	2c935ca0af
1:196712690 CFH A>G	1	196712690	196712690	A	G	CFH	c.3242A>G	NM_000186.3	NP_000177.2:p.(Tyr1081Cys)	NC_000001.10:g.196712690A>G	VUS	1 lab	2c95963896
1:1960964 GABRD A>G	1	1960964	1960964	A	G	GABRD	c.848-26A>G	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1960964A>G	(Likely) benign	1 lab	03f0ab0fe3
14:23873952 MYH6 G>A	14	23873952	23873952	G	A	MYH6	c.610C>T	NM_002471.3	NP_002462.2:p.(Arg204Cys)	NC_000014.8:g.23873952G>A	VUS	1 lab	2c9e7baec1
19:50906529 POLD1 G>A	19	50906529	50906529	G	A	POLD1	c.1137+53G>A	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50906529G>A	(Likely) benign	1 lab	2c9e8cc626
10:70441201 TET1 G>C	10	70441201	70441201	G	C	TET1	c.4870G>C	NM_030625.2	NP_085128.2:p.(Ala1624Pro)	NC_000010.10:g.70441201G>C	VUS	1 lab	2c9ff778f2
2:179613743 TTN C>T	2	179613743	179613743	C	T	TTN	c.13384G>A	NM_133379.4	NP_596870.2:p.(Glu4462Lys)	NC_000002.11:g.179613743C>T	(Likely) benign	1 lab	2ca0ee7c32
X:107898633 COL4A5 G>A	X	107898633	107898633	G	A	COL4A5	c.3319G>A	NM_033380.2	NP_203699.1:p.(Gly1107Arg)	NC_000023.10:g.107898633G>A	(Likely) pathogenic	1 lab	2ca46786f2
12:52312795 ACVRL1 T>G	12	52312795	52312795	T	G	ACVRL1	c.1273T>G	NM_000020.2	NP_000011.2:p.(Phe425Val)	NC_000012.11:g.52312795T>G	VUS	1 lab	03f1abfa92
14:103395096 AMN C>A	14	103395096	103395096	C	A	AMN	c.297C>A	NM_030943.4	NP_112205.2:p.(Gly99=)	NC_000014.8:g.103395096C>A	VUS	1 lab	2ca64ef3a8
22:36681287 MYH9 T>C	22	36681287	36681287	T	C	MYH9	c.5363A>G	NM_002473.6	NP_002464.1:p.(Lys1788Arg)	NC_000022.10:g.36681287T>C	VUS	1 lab	2ca8466f85
13:32968968 BRCA2 AG>A	13	32968968	32968970	AG	A	BRCA2	c.9401del	NM_000059.3	NP_000050.2:p.(Gly3134AlafsTer29)	NC_000013.10:g.32968970del	(Likely) pathogenic	1 lab	2caa950b1f
18:31323161 ASXL3 C>T	18	31323161	31323161	C	T	ASXL3	c.3349C>T	NM_030632.1	NP_085135.1:p.(Arg1117Ter)	NC_000018.9:g.31323161C>T	(Likely) pathogenic	1 lab	2caaaabe02
1:118420771 GDAP2 A>AC	1	118420771	118420772	A	AC	GDAP2	c.1305dup	NM_017686.3	NP_060156.1:p.(Ser436ValfsTer36)	NC_000001.10:g.118420772dup	(Likely) pathogenic	1 lab	2cb587ea48
9:6592802 GLDC C>CG	9	6592802	6592803	C	CG	GLDC	c.1401+48_1401+49insC	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6592802_6592803insG	(Likely) benign	1 lab	03fa6eed83
6:65301012 EYS T>C	6	65301012	65301012	T	C	EYS	c.4748A>G	NM_001142800.1	NP_001136272.1:p.(Tyr1583Cys)	NC_000006.11:g.65301012T>C	VUS	1 lab	2cba8695b2
X:64137740 ZC4H2 C>T	X	64137740	64137740	C	T	ZC4H2	c.598G>A	NM_018684.3	NP_061154.1:p.(Ala200Thr)	NC_000023.10:g.64137740C>T	(Likely) pathogenic	1 lab	2cbb85af7c
5:37318115 NUP155 T>C	5	37318115	37318115	T	C	NUP155	c.2103A>G	NM_004298.3	NP_004289.1:p.(Gln701=)	NC_000005.9:g.37318115T>C	(Likely) benign	1 lab	2cbe211206
15:44855500 SPG11 C>G	15	44855500	44855500	C	G	SPG11	c.7152-1G>C	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44855500C>G	(Likely) pathogenic	1 lab	2cbe7f1f4e
18:56998723 LMAN1 A>G	18	56998723	56998723	A	G	LMAN1	c.1423T>C	NM_005570.3	NP_005561.1:p.(Cys475Arg)	NC_000018.9:g.56998723A>G	(Likely) pathogenic	1 lab	2cbf345c89
4:122775861 BBS7 CCTCT>C	4	122775861	122775867	CCTCT	C	BBS7	c.712_715del	NM_176824.2	NP_789794.1:p.(Arg238GlufsTer59)	NC_000004.11:g.122775864_122775867del	(Likely) pathogenic	1 lab	2cc109ad17
19:18183150 IL12RB1 G>A	19	18183150	18183150	G	A	IL12RB1	c.913C>T	NM_001290024.1	NP_001276953.1:p.(Leu305=)	NC_000019.9:g.18183150G>A	(Likely) benign	1 lab	03fba1fe16
17:73723854 ITGB4 C>T	17	73723854	73723854	C	T	ITGB4	c.387C>T	NM_000213.5	NP_000204.3:p.(Pro129=)	NC_000017.10:g.73723854C>T	(Likely) benign	1 lab	03fd6a9201
X:153608681 EMD G>A	X	153608681	153608681	G	A	EMD	c.353G>A	NM_000117.2	NP_000108.1:p.(Arg118His)	NC_000023.10:g.153608681G>A	VUS	1 lab	2cc8b44523
11:47460359 RAPSN C>T	11	47460359	47460359	C	T	RAPSN				NC_000011.9:g.47460359C>T	VUS	1 lab	2cc9776e05
2:227872735 COL4A4 A>ATCAGGAATGAATACCCGATCCAGAGGC	2	227872735	227872764	A	ATCAGGAATGAATACCCGATCCAGAGGC	COL4A4	c.4781_4807dup	NM_000092.4	NP_000083.3:p.(Ser1594_Leu1602dup)	NC_000002.11:g.227872738_227872764dup	(Likely) pathogenic	1 lab	2cca1fd7f7
7:155596275 SHH G>T	7	155596275	155596275	G	T	SHH	c.708C>A	NM_000193.2	NP_000184.1:p.(Ser236Arg)	NC_000007.13:g.155596275G>T	(Likely) pathogenic	1 lab	2ccac7f7af
5:138163308 CTNNA1 C>T	5	138163308	138163308	C	T	CTNNA1	c.963C>T	NM_001903.5	NP_001894.2:p.(Asp321=)	NC_000005.9:g.138163308C>T	(Likely) benign	1 lab	2cccf16e1d
6:66115097 EYS C>T	6	66115097	66115097	C	T	EYS	c.1026G>A	NM_001142800.2	NP_001136272.1:p.(Gln342=)	NC_000006.11:g.66115097C>T	(Likely) benign	1 lab	2ccf6dc746
17:59545011 TBX4 T>C	17	59545011	59545011	T	C	TBX4	c.542T>C	NM_001321120.2	NP_001308049.1:p.(Phe181Ser)	NC_000017.10:g.59545011T>C	VUS	1 lab	2cd272b90d
3:193365939 OPA1 T>G	3	193365939	193365939	T	G	OPA1	c.1935+16T>G	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193365939T>G	(Likely) benign	1 lab	2cd2d38afe
18:28648178 DSC2 T>C	18	28648178	28648178	T	C	DSC2	c.2509A>G	NM_024422.3	NP_077740.1:p.(Lys837Glu)	NC_000018.9:g.28648178T>C	VUS	1 lab	2cd608bae0
7:98540632 TRRAP G>A	7	98540632	98540632	G	A	TRRAP				NC_000007.13:g.98540632G>A	VUS	1 lab	2cd665a9d4
1:155452072 ASH1L GA>G	1	155452072	155452074	GA	G	ASH1L	c.588del	NM_018489.3	NP_060959.2:p.(Gly198ValfsTer7)	NC_000001.10:g.155452074del	(Likely) pathogenic	1 lab	2cde24ce29
X:31241200 DMD C>A	X	31241200	31241200	C	A	DMD	c.9325G>T	NM_004006.3	NP_003997.2:p.(Ala3109Ser)	NC_000023.10:g.31241200C>A	(Likely) benign	1 lab	2ce2bbeb30
5:112162804 APC G>A	5	112162804	112162804	G	A	APC	c.1409-1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162804G>A	(Likely) pathogenic	1 lab	2ce3284f35
19:55667927 TNNI3 C>A	19	55667927	55667927	C	A	TNNI3	c.150+44G>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55667927C>A	(Likely) benign	1 lab	2ce35c6627
2:167163022 SCN9A G>A	2	167163022	167163022	G	A	SCN9A	c.465C>T	NM_002977.3	NP_002968.1:p.(Val155=)	NC_000002.11:g.167163022G>A	(Likely) benign	1 lab	2ce37fc985
5:180057042 FLT4 C>G	5	180057042	180057042	C	G	FLT4	c.577G>C	NM_182925.4	NP_891555.2:p.(Val193Leu)	NC_000005.9:g.180057042C>G	(Likely) benign	1 lab	2ce8e44948
17:18075070 MYO15A C>T	17	18075070	18075070	C	T	MYO15A	c.10201C>T	NM_016239.3	NP_057323.3:p.(Arg3401Cys)	NC_000017.10:g.18075070C>T	VUS	1 lab	2ceec75d91
20:61460298 COL9A3 T>G	20	61460298	61460298	T	G	COL9A3	c.978T>G	NM_001853.3	NP_001844.3:p.(Ala326=)	NC_000020.10:g.61460298T>G	VUS	1 lab	2cef4a7525
1:237780632 RYR2 G>A	1	237780632	237780632	G	A	RYR2	c.5762G>A	NM_001035.2	NP_001026.2:p.(Arg1921Gln)	NC_000001.10:g.237780632G>A	VUS	1 lab	2cef6b07bb
3:33118742 GLB1 A>G	3	33118742	33118742	A	G	GLB1	c.76-13T>C	NM_001317040.1	NP_001303969.1:p.?	NC_000003.11:g.33118742A>G	(Likely) benign	1 lab	2cf2956d83
14:23889409 MYH7 GCCTCCAGCTCCT>G	14	23889409	23889434	GCCTCCAGCTCCT	G	MYH7	c.3359_3370del	NM_000257.3	NP_000248.2:p.(Glu1120_Glu1123del)	NC_000014.8:g.23889423_23889434del	VUS	1 lab	2cf589e878
7:91732039 AKAP9 G>T	7	91732039	91732039	G	T	AKAP9	c.11229G>T	NM_005751.4	NP_005742.4:p.(Met3743Ile)	NC_000007.13:g.91732039G>T	(Likely) benign	1 lab	2cf5faf9e6
17:41277382 BRCA1 G>A	17	41277382	41277382	G	A	BRCA1	c.-114C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277382G>A	(Likely) benign	1 lab	2cf7a45d8b
3:37059072 MLH1 AC>A	3	37059072	37059075	AC	A	MLH1	c.869del	NM_000249.4	NP_000240.1:p.(Pro290HisfsTer7)	NC_000003.11:g.37059075del	(Likely) pathogenic	1 lab	2cf8599091
5:112175523 APC GT>G	5	112175523	112175524	GT	G	APC	c.4233del	NM_000038.6	NP_000029.2:p.(Ser1411ArgfsTer4)	NC_000005.9:g.112175524del	(Likely) pathogenic	1 lab	2cf96cff11
15:26793156 GABRB3 G>C	15	26793156	26793156	G	C	GABRB3	c.1206C>G	NM_000814.5	NP_000805.1:p.(Tyr402Ter)	NC_000015.9:g.26793156G>C	VUS	1 lab	2cfc7779fd
20:32000351 SNTA1 A>G	20	32000351	32000351	A	G	SNTA1	c.909+30T>C	NM_003098.2	NP_003089.1:p.?	NC_000020.10:g.32000351A>G	(Likely) benign	1 lab	2cfc88adaa
12:110032951 MVK G>A	12	110032951	110032951	G	A	MVK	c.1004G>A	NM_000431.2	NP_000422.1:p.(Gly335Asp)	NC_000012.11:g.110032951G>A	(Likely) pathogenic	1 lab	0408f58533
13:32929319 BRCA2 T>C	13	32929319	32929319	T	C	BRCA2	c.7329T>C	NM_000059.3	NP_000050.2:p.(Asp2443=)	NC_000013.10:g.32929319T>C	(Likely) benign	1 lab	2cfe379662
21:34927047 SON G>A	21	34927047	34927047	G	A	SON	c.5510G>A	NM_138927.2	NP_620305.2:p.(Arg1837His)	NC_000021.8:g.34927047G>A	(Likely) benign	1 lab	2cff7def2c
12:76740220 BBS10 A>G	12	76740220	76740220	A	G	BBS10	c.1545T>C	NM_024685.4	NP_078961.3:p.(Asp515=)	NC_000012.11:g.76740220A>G	(Likely) benign	1 lab	040a28dc88
7:2985452 CARD11 C>G	7	2985452	2985452	C	G	CARD11	c.358+1G>C	NM_032415.5	NP_115791.3:p.?	NC_000007.13:g.2985452C>G	(Likely) pathogenic	1 lab	2d08fedf0f
10:104814162 CNNM2 T>C	10	104814162	104814162	T	C	CNNM2				NC_000010.10:g.104814162T>C	(Likely) benign	1 lab	2d0ad7cee1
4:55537014 KIT T>C	4	55537014	55537014	T	C	KIT	c.67+12766T>C	NM_000222.2	NP_000213.1:p.?	NC_000004.11:g.55537014T>C	(Likely) benign	1 lab	2d0ba24dc5
2:112779028 MERTK C>T	2	112779028	112779028	C	T	MERTK	c.2219C>T	NM_006343.2	NP_006334.2:p.(Ala740Val)	NC_000002.11:g.112779028C>T	VUS	1 lab	2d0bf1b658
17:41251851 BRCA1 C>G	17	41251851	41251851	C	G	BRCA1	c.488G>C	NM_007294.3	NP_009225.1:p.(Arg163Thr)	NC_000017.10:g.41251851C>G	(Likely) benign	1 lab	2d0cfa5dac
5:125885803 ALDH7A1 T>G	5	125885803	125885803	T	G	ALDH7A1	c.1415+85A>C	NM_001182.4	NP_001173.2:p.?	NC_000005.9:g.125885803T>G	(Likely) benign	1 lab	2d133cdbf7
11:64521496 PYGM G>A	11	64521496	64521496	G	A	PYGM	c.1094C>T	NM_005609.4	NP_005600.1:p.(Ala365Val)	NC_000011.9:g.64521496G>A	(Likely) pathogenic	1 lab	2d13ab5768
11:108164095 ATM A>G	11	108164095	108164095	A	G	ATM	c.4667A>G	NM_000051.4	NP_000042.3:p.(Tyr1556Cys)	NC_000011.9:g.108164095A>G	VUS	1 lab	2d15ae2302
17:26695704 VTN A>G	17	26695704	26695704	A	G	VTN	c.827-10T>C	NM_000638.3	NP_000629.3:p.?	NC_000017.10:g.26695704A>G	(Likely) benign	1 lab	2d1654e847
10:75010693 MRPS16 G>T	10	75010693	75010693	G	T	MRPS16	c.331C>A	NM_016065.3	NP_057149.1:p.(Arg111=)	NC_000010.10:g.75010693G>T	(Likely) pathogenic	1 lab	2d1d1e8377
5:112170721 APC T>G	5	112170721	112170721	T	G	APC	c.1817T>G	NM_000038.5	NP_000029.2:p.(Ile606Arg)	NC_000005.9:g.112170721T>G	VUS	1 lab	2d2063ca62
15:44920983 SPG11 G>A	15	44920983	44920983	G	A	SPG11	c.1951C>T	NM_025137.3	NP_079413.3:p.(Arg651Ter)	NC_000015.9:g.44920983G>A	(Likely) pathogenic	1 lab	2d23d269d6
X:19364743 PDHA1 T>A	X	19364743	19364743	T	A	PDHA1	c.171+2T>A	NM_001173454.1	NP_001166925.1:p.?	NC_000023.10:g.19364743T>A	VUS	1 lab	2d243298ce
17:41223265 BRCA1 A>T	17	41223265	41223265	A	T	BRCA1				NC_000017.10:g.41223265A>T	(Likely) benign	1 lab	2d2990496d
7:6017395 PMS2 G>T	7	6017395	6017395	G	T	PMS2	c.2276-7C>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6017395G>T	(Likely) benign	1 lab	2d2a1df653
5:149265922 PDE6A G>A	5	149265922	149265922	G	A	PDE6A	c.1744C>T	NM_000440.2	NP_000431.2:p.(Arg582Cys)	NC_000005.9:g.149265922G>A	VUS	1 lab	2d2b1b583d
17:26857765 FOXN1 A>G	17	26857765	26857765	A	G	FOXN1	c.831-2A>G	NM_003593.2	NP_003584.2:p.?	NC_000017.10:g.26857765A>G	(Likely) pathogenic	1 lab	2d2d31fcb3
9:139412199 NOTCH1 C>T	9	139412199	139412199	C	T	NOTCH1	c.1441+5G>A	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139412199C>T	VUS	1 lab	2d321d7097
13:101725983 NALCN G>A	13	101725983	101725983	G	A	NALCN	c.4150C>T	NM_052867.2	NP_443099.1:p.(Arg1384Ter)	NC_000013.10:g.101725983G>A	(Likely) pathogenic	1 lab	2d39a4220b
19:1005224 GRIN3B G>A	19	1005224	1005224	G	A	GRIN3B	c.1724G>A	NM_138690.1	NP_619635.1:p.(Trp575Ter)	NC_000019.9:g.1005224G>A	(Likely) benign	1 lab	2d3a500445
7:70231259 AUTS2 TC>T	7	70231259	70231260	TC	T	AUTS2	c.1629del	NM_015570.3	NP_056385.1:p.(Phe543LeufsTer51)	NC_000007.13:g.70231260del	(Likely) pathogenic	1 lab	2d3f3fd934
2:39222409 SOS1 C>G	2	39222409	39222409	C	G	SOS1	c.3201G>C	NM_005633.4	NP_005624.2:p.(Arg1067Ser)	NC_000002.11:g.39222409C>G	VUS	1 lab	2d4096e0dc
2:215609811 BARD1 C>CGGCTGGATTCTAAAATTTGAATGTAAG	2	215609811	215609812	C	CGGCTGGATTCTAAAATTTGAATGTAAG	BARD1	c.1882_1883insCTTACATTCAAATTTTAGAATCCAGCC	NM_000465.4	NP_000456.2:p.(Cys628delinsSerTyrIleGlnIleLeuGluSerSerArg)	NC_000002.11:g.215609811_215609812insGGCTGGATTCTAAAATTTGAATGTAAG	VUS	1 lab	2d42f07201
19:39057549 RYR1 A>G	19	39057549	39057549	A	G	RYR1	c.13438-2A>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39057549A>G	(Likely) pathogenic	1 lab	2d4b992fad
14:59112221 DACT1 G>A	14	59112221	59112221	G	A	DACT1	c.880G>A	NM_016651.6	NP_057735.2:p.(Glu294Lys)	NC_000014.8:g.59112221G>A	(Likely) benign	1 lab	040ae4ae0b
17:17119819 FLCN TGAG>T	17	17119819	17119827	TGAG	T	FLCN	c.1177-5_1177-3del	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17119825_17119827del	(Likely) pathogenic	1 lab	2d4eb52a3e
1:237666736 RYR2 C>T	1	237666736	237666736	C	T	RYR2	c.2544C>T	NM_001035.2	NP_001026.2:p.(Arg848=)	NC_000001.10:g.237666736C>T	(Likely) benign	1 lab	2d4f864485
15:28447322 HERC2 C>T	15	28447322	28447322	C	T	HERC2	c.7554G>A	NM_004667.6	NP_004658.3:p.(Thr2518=)	NC_000015.9:g.28447322C>T	(Likely) benign	1 lab	2d53310a91
16:30991224 SETD1A G>T	16	30991224	30991224	G	T	SETD1A	c.4117G>T	NM_014712.3	NP_055527.1:p.(Glu1373Ter)	NC_000016.9:g.30991224G>T	(Likely) pathogenic	1 lab	2d53614563
21:47540432 COL6A2 G>C	21	47540432	47540432	G	C	COL6A2	c.1336G>C	NM_001849.3	NP_001840.3:p.(Asp446His)	NC_000021.8:g.47540432G>C	VUS	1 lab	2d5415f1b1
2:179430226 TTN A>G	2	179430226	179430226	A	G	TTN	c.80633T>C	NM_001267550.2	NP_001254479.2:p.(Ile26878Thr)	NC_000002.11:g.179430226A>G	VUS	1 lab	2d5503a513
14:95562613 DICER1 C>G	14	95562613	95562613	C	G	DICER1	c.4644G>C	NM_177438.3	NP_803187.1:p.(Leu1548Phe)	NC_000014.8:g.95562613C>G	VUS	1 lab	2d5745313d
4:15602909 CC2D2A T>C	4	15602909	15602909	T	C	CC2D2A	c.4724T>C	NM_001080522.2	NP_001073991.2:p.(Ile1575Thr)	NC_000004.11:g.15602909T>C	VUS	1 lab	2d61d3c180
2:121744157 GLI2 C>A	2	121744157	121744157	C	A	GLI2	c.2260C>A	NM_005270.4	NP_005261.2:p.(Arg754=)	NC_000002.11:g.121744157C>A	(Likely) benign	1 lab	2d62d183f5
17:79478078 ACTG1 C>T	17	79478078	79478078	C	T	ACTG1				NC_000017.10:g.79478078C>T	VUS	1 lab	2d64ffce22
21:35821848 KCNE1 C>T	21	35821848	35821848	C	T	KCNE1				NC_000021.8:g.35821848C>T	(Likely) benign	1 lab	2d6a44b92d
17:7576878 TP53 AG>A	17	7576878	7576879	AG	A	TP53	c.967del	NM_000546.6	NP_000537.3:p.(Leu323TrpfsTer22)	NC_000017.10:g.7576879del	(Likely) pathogenic	1 lab	2d6b065134
11:76883845 MYO7A T>C	11	76883845	76883845	T	C	MYO7A	c.1849T>C	NM_000260.4	NP_000251.3:p.(Ser617Pro)	NC_000011.9:g.76883845T>C	(Likely) pathogenic	1 lab	2d6b726712
X:74742807 ZDHHC15 C>T	X	74742807	74742807	C	T	ZDHHC15	c.53G>A	NM_144969.2	NP_659406.1:p.(Arg18Gln)	NC_000023.10:g.74742807C>T	VUS	1 lab	2d6cba7df2
10:73550978 CDH23 G>A	10	73550978	73550978	G	A	CDH23	c.6139G>A	NM_022124.5	NP_071407.4:p.(Gly2047Arg)	NC_000010.10:g.73550978G>A	VUS	1 lab	2d6cd0badb
17:59534987 TBX4 T>G	17	59534987	59534987	T	G	TBX4	c.276T>G	NM_018488.2	NP_060958.2:p.(Ala92=)	NC_000017.10:g.59534987T>G	(Likely) benign	1 lab	2d6d853423
3:47040875 NBEAL2 G>A	3	47040875	47040875	G	A	NBEAL2	c.3614G>A	NM_015175.2	NP_055990.1:p.(Cys1205Tyr)	NC_000003.11:g.47040875G>A	(Likely) benign	1 lab	040d032a2e
14:23896554 MYH7 G>A	14	23896554	23896554	G	A	MYH7	c.1889-38C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23896554G>A	(Likely) benign	1 lab	2d7618fee8
2:48915223 LHCGR C>T	2	48915223	48915223	C	T	LHCGR	c.1713G>A	NM_000233.3	NP_000224.2:p.(Met571Ile)	NC_000002.11:g.48915223C>T	(Likely) pathogenic	1 lab	2d7740f654
16:2158304 PKD1 G>A	16	2158304	2158304	G	A	PKD1	c.6864C>T	NM_001009944.2	NP_001009944.2:p.(Asp2288=)	NC_000016.9:g.2158304G>A	(Likely) benign	1 lab	0414807ea7
5:112174001 APC A>T	5	112174001	112174001	A	T	APC	c.2710A>T	NM_000038.6	NP_000029.2:p.(Arg904Ter)	NC_000005.9:g.112174001A>T	(Likely) pathogenic	1 lab	2d79235670
13:32900750 BRCA2 G>T	13	32900750	32900750	G	T	BRCA2	c.631G>T	NM_000059.3	NP_000050.2:p.(Val211Phe)	NC_000013.10:g.32900750G>T	VUS	1 lab	2d79ab00a8
3:38913006 SCN11A T>C	3	38913006	38913006	T	C	SCN11A	c.3689A>G	NM_014139.2	NP_054858.2:p.(Asn1230Ser)	NC_000003.11:g.38913006T>C	(Likely) benign	1 lab	2d7adbaa0d
5:6623386 NSUN2 G>A	5	6623386	6623386	G	A	NSUN2	c.478C>T	NM_017755.6	NP_060225.4:p.(Arg160Cys)	NC_000005.9:g.6623386G>A	VUS	1 lab	2d7bf984e0
5:112174110 APC C>A	5	112174110	112174110	C	A	APC	c.2819C>A	NM_000038.6	NP_000029.2:p.(Ser940Ter)	NC_000005.9:g.112174110C>A	(Likely) pathogenic	1 lab	2d7c9b8144
11:108123526 ATM T>C	11	108123526	108123526	T	C	ATM	c.1803-18T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123526T>C	(Likely) benign	1 lab	2d7df39596
14:100705875 YY1 C>T	14	100705875	100705875	C	T	YY1	c.294C>T	NM_003403.4	NP_003394.1:p.(His98=)	NC_000014.8:g.100705875C>T	(Likely) benign	1 lab	2d818add53
2:25972585 ASXL2 G>A	2	25972585	25972585	G	A	ASXL2	c.1840C>T	NM_018263.5	NP_060733.4:p.(Arg614Ter)	NC_000002.11:g.25972585G>A	(Likely) pathogenic	1 lab	2d83203354
8:48686942 PRKDC GA>G	8	48686942	48686950	GA	G	PRKDC	c.12183-5del	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48686950del	(Likely) benign	1 lab	04168d52da
10:28906631 WAC A>G	10	28906631	28906631	A	G	WAC				NC_000010.10:g.28906631A>G	VUS	1 lab	2d8b5e5428
6:112435364 LAMA4 C>T	6	112435364	112435364	C	T	LAMA4	c.5241G>A	NM_001105206.2	NP_001098676.2:p.(Val1747=)	NC_000006.11:g.112435364C>T	(Likely) benign	1 lab	2d8c17d669
10:98820403 SLIT1 G>A	10	98820403	98820403	G	A	SLIT1	c.935C>T	NM_003061.2	NP_003052.2:p.(Thr312Met)	NC_000010.10:g.98820403G>A	VUS	1 lab	2d8da59377
12:112919866 PTPN11 G>T	12	112919866	112919866	G	T	PTPN11	c.1093-12G>T	NM_002834.4	NP_002825.3:p.?	NC_000012.11:g.112919866G>T	(Likely) benign	1 lab	2d9382fde8
12:57961297 KIF5A C>T	12	57961297	57961297	C	T	KIF5A	c.610C>T	NM_004984.2	NP_004975.2:p.(Arg204Trp)	NC_000012.11:g.57961297C>T	(Likely) pathogenic	1 lab	2d95c65581
19:50789784 MYH14 C>T	19	50789784	50789784	C	T	MYH14	c.4585C>T	NM_001145809.1	NP_001139281.1:p.(Arg1529Cys)	NC_000019.9:g.50789784C>T	(Likely) benign	1 lab	2d97339b48
6:7574925 DSP T>C	6	7574925	7574925	T	C	DSP	c.2333T>C	NM_004415.3	NP_004406.2:p.(Leu778Pro)	NC_000006.11:g.7574925T>C	VUS	1 lab	2d97cd9c2c
18:21124335 NPC1 G>A	18	21124335	21124335	G	A	NPC1	c.2103C>T	NM_000271.5	NP_000262.2:p.(Asn701=)	NC_000018.9:g.21124335G>A	(Likely) benign	1 lab	041f3828b2
4:108816857 SGMS2 C>T	4	108816857	108816857	C	T	SGMS2	c.148C>T	NM_001136258.1	NP_001129730.1:p.(Arg50Ter)	NC_000004.11:g.108816857C>T	(Likely) pathogenic	1 lab	2d9b00cb87
17:59763184 BRIP1 G>T	17	59763184	59763184	G	T	BRIP1	c.2905+13C>A	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59763184G>T	(Likely) benign	1 lab	2d9dbaf2f7
3:45559410 LARS2 G>A	3	45559410	45559410	G	A	LARS2				NC_000003.11:g.45559410G>A	VUS	1 lab	2f187b627c
1:216538325 USH2A C>T	1	216538325	216538325	C	T	USH2A	c.754G>A	NM_206933.2	NP_996816.2:p.(Gly252Ser)	NC_000001.10:g.216538325C>T	VUS	1 lab	2d9f2fdef9
21:47552409 COL6A2 C>A	21	47552409	47552409	C	A	COL6A2	c.3003C>A	NM_001849.3	NP_001840.3:p.(Asp1001Glu)	NC_000021.8:g.47552409C>A	VUS	1 lab	2d9fc5667b
3:49161946 LAMB2 T>C	3	49161946	49161946	T	C	LAMB2	c.3209A>G	NM_002292.3	NP_002283.3:p.(Asn1070Ser)	NC_000003.11:g.49161946T>C	VUS	1 lab	2dbdcd07af
1:201331116 TNNT2 C>T	1	201331116	201331116	C	T	TNNT2	c.644G>A	NM_001276345.2	NP_001263274.1:p.(Arg215Gln)	NC_000001.10:g.201331116C>T	(Likely) pathogenic	1 lab	2da228bb1f
14:23887614 MYH7 G>A	14	23887614	23887614	G	A	MYH7	c.3974C>T	NM_000257.4	NP_000248.2:p.(Ala1325Val)	NC_000014.8:g.23887614G>A	VUS	1 lab	2da5cbd970
6:44274709 AARS2 G>T	6	44274709	44274709	G	T	AARS2	c.1100C>A	NM_020745.3	NP_065796.1:p.(Ala367Glu)	NC_000006.11:g.44274709G>T	VUS	1 lab	2da67cf16c
20:3063713 AVP C>T	20	3063713	3063713	C	T	AVP	c.232G>A	NM_000490.4	NP_000481.2:p.(Glu78Lys)	NC_000020.10:g.3063713C>T	(Likely) pathogenic	1 lab	2da7969a20
11:32413517 WT1 C>T	11	32413517	32413517	C	T	WT1	c.1447+1G>A	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32413517C>T	(Likely) pathogenic	1 lab	2dab0c3f0d
17:29652907 NF1 T>A	17	29652907	29652907	T	A	NF1	c.4842T>A	NM_000267.3	NP_000258.1:p.(Tyr1614Ter)	NC_000017.10:g.29652907T>A	(Likely) pathogenic	1 lab	2dab2742f3
7:151254160 PRKAG2 G>C	7	151254160	151254160	G	C	PRKAG2	c.*127C>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151254160G>C	(Likely) benign	1 lab	2dabdc4a51
14:76231034 TTLL5 G>A	14	76231034	76231034	G	A	TTLL5	c.1627G>A	NM_015072.4	NP_055887.3:p.(Glu543Lys)	NC_000014.8:g.76231034G>A	(Likely) pathogenic	1 lab	2dadcd1ff7
2:71188119 ATP6V1B1 C>T	2	71188119	71188119	C	T	ATP6V1B1	c.654C>T	NM_001692.3	NP_001683.2:p.(Asp218=)	NC_000002.11:g.71188119C>T	(Likely) benign	1 lab	2dafcc5746
1:74937132 TNNI3K C>T	1	74937132	74937132	C	T	TNNI3K	c.2121+7898C>T	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74937132C>T	(Likely) benign	1 lab	2db130649d
2:166900520 SCN1A G>A	2	166900520	166900520	G	A	SCN1A	c.1702C>T	NM_001165963.3	NP_001159435.1:p.(Arg568Ter)	NC_000002.11:g.166900520G>A	(Likely) pathogenic	1 lab	0420cb4fb8
17:38793775 SMARCE1 G>A	17	38793775	38793775	G	A	SMARCE1	c.206C>T	NM_003079.4	NP_003070.3:p.(Pro69Leu)	NC_000017.10:g.38793775G>A	VUS	1 lab	2db5b52fc8
2:166905392 SCN1A T>C	2	166905392	166905392	T	C	SCN1A	c.1028+4A>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166905392T>C	VUS	1 lab	2dbbb0fe2b
14:29237158 FOXG1 T>C	14	29237158	29237158	T	C	FOXG1				NC_000014.8:g.29237158T>C	(Likely) pathogenic	1 lab	2f137df9ea
22:38097359 TRIOBP C>G	22	38097359	38097359	C	G	TRIOBP	c.-14C>G	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38097359C>G	(Likely) benign	1 lab	2dc1dc3668
1:155874284 RIT1 T>G	1	155874284	155874284	T	G	RIT1	c.247A>C	NM_006912.6	NP_008843.1:p.(Thr83Pro)	NC_000001.10:g.155874284T>G	(Likely) pathogenic	1 lab	2dc2fb3383
4:84189012 COQ2 G>GT	4	84189012	84189019	G	GT	COQ2	c.913-86dup	NM_015697.8	NP_056512.5:p.?	NC_000004.11:g.84189019dup	(Likely) benign	1 lab	04220af72a
2:179417703 TTN G>A	2	179417703	179417703	G	A	TTN	c.89924C>T	NM_001267550.2	NP_001254479.2:p.(Ala29975Val)	NC_000002.11:g.179417703G>A	(Likely) benign	1 lab	2dc3b9114c
5:112177185 APC A>G	5	112177185	112177185	A	G	APC	c.5894A>G	NM_000038.6	NP_000029.2:p.(His1965Arg)	NC_000005.9:g.112177185A>G	(Likely) benign	1 lab	2dc3ba11a6
1:228528825 OBSCN G>A	1	228528825	228528825	G	A	OBSCN	c.20598G>A	NM_001271223.2	NP_001258152.2:p.(Pro6866=)	NC_000001.10:g.228528825G>A	(Likely) benign	1 lab	2dc5da1d60
13:110853831 COL4A1 CCT>C	13	110853831	110853838	CCT	C	COL4A1	c.1036_1037del	NM_001845.6	NP_001836.3:p.(Arg346GlyfsTer43)	NC_000013.10:g.110853837_110853838del	(Likely) pathogenic	1 lab	2dc830b027
5:149265912 PDE6A G>A	5	149265912	149265912	G	A	PDE6A	c.1754C>T	NM_000440.2	NP_000431.2:p.(Thr585Met)	NC_000005.9:g.149265912G>A	(Likely) benign	1 lab	2dc90f3e2c
5:112128192 APC G>A	5	112128192	112128192	G	A	APC	c.695G>A	NM_000038.6	NP_000029.2:p.(Arg232Gln)	NC_000005.9:g.112128192G>A	(Likely) benign	1 lab	2dc97b92d7
17:41246296 BRCA1 C>A	17	41246296	41246296	C	A	BRCA1	c.1252G>T	NM_007294.3	NP_009225.1:p.(Glu418Ter)	NC_000017.10:g.41246296C>A	(Likely) pathogenic	1 lab	2dc99584b9
11:102988465 DYNC2H1 G>T	11	102988465	102988465	G	T	DYNC2H1	c.872G>T	NM_001080463.1	NP_001073932.1:p.(Cys291Phe)	NC_000011.9:g.102988465G>T	VUS	1 lab	2dcaefdf18
16:2185569 PKD1 G>A	16	2185569	2185569	G	A	PKD1	c.122C>T	NM_001009944.3	NP_001009944.3:p.(Pro41Leu)	NC_000016.9:g.2185569G>A	VUS	1 lab	2dcc10dbdf
21:35821696 KCNE1 G>A	21	35821696	35821696	G	A	KCNE1	c.237C>T	NM_000219.4	NP_000210.2:p.(Asn79=)	NC_000021.8:g.35821696G>A	(Likely) benign	1 lab	2dcddd9d20
10:135176412 ECHS1 G>A	10	135176412	135176412	G	A	ECHS1	c.833C>T	NM_004092.3	NP_004083.3:p.(Ala278Val)	NC_000010.10:g.135176412G>A	VUS	1 lab	2dcf7485c7
22:26864577 HPS4 G>C	22	26864577	26864577	G	C	HPS4	c.609C>G	NM_022081.5	NP_071364.4:p.(Thr203=)	NC_000022.10:g.26864577G>C	(Likely) benign	1 lab	042884c6eb
1:216138811 USH2A C>T	1	216138811	216138811	C	T	USH2A	c.6968G>A	NM_206933.2	NP_996816.2:p.(Arg2323Gln)	NC_000001.10:g.216138811C>T	VUS	1 lab	2dd681b5a1
20:30689106 HCK C>T	20	30689106	30689106	C	T	HCK	c.1319-14C>T	NM_001172132.2	NP_001165603.1:p.?	NC_000020.10:g.30689106C>T	(Likely) benign	1 lab	042c6e0be5
12:81688732 MISSING T>G	12	81688732	81688732	T	G	MISSING				NC_000012.11:g.81688732T>G	VUS	1 lab	2ddbd05f2f
2:228169826 COL4A3 G>A	2	228169826	228169826	G	A	COL4A3	c.4252+27G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228169826G>A	(Likely) benign	1 lab	2ddc5b75c5
2:16086004 MYCN C>T	2	16086004	16086004	C	T	MYCN	c.1180C>T	NM_005378.4	NP_005369.2:p.(Arg394Cys)	NC_000002.11:g.16086004C>T	(Likely) pathogenic	1 lab	2dde0a3673
13:26151250 ATP8A2 C>T	13	26151250	26151250	C	T	ATP8A2				NC_000013.10:g.26151250C>T	(Likely) pathogenic	1 lab	2de1900a09
7:107342459 SLC26A4 C>T	7	107342459	107342459	C	T	SLC26A4	c.1991C>T	NM_000441.1	NP_000432.1:p.(Ala664Val)	NC_000007.13:g.107342459C>T	(Likely) pathogenic	1 lab	2de20664d5
16:2153627 PKD1 CCT>C	16	2153627	2153630	CCT	C	PKD1	c.8429_8430del	NM_001009944.2	NP_001009944.2:p.(Glu2810GlyfsTer11)	NC_000016.9:g.2153629_2153630del	(Likely) pathogenic	1 lab	2de4760612
3:193386239 OPA1 C>T	3	193386239	193386239	C	T	OPA1	c.2983+1170C>T	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193386239C>T	(Likely) benign	1 lab	0430d4ef82
8:100205117 VPS13B C>T	8	100205117	100205117	C	T	VPS13B	c.2347C>T	NM_017890.4	NP_060360.3:p.(Gln783Ter)	NC_000008.10:g.100205117C>T	(Likely) pathogenic	1 lab	2dfe601f0e
6:76623950 MYO6 C>T	6	76623950	76623950	C	T	MYO6	c.3610C>T	NM_004999.3	NP_004990.3:p.(Arg1204Trp)	NC_000006.11:g.76623950C>T	(Likely) pathogenic	1 lab	2e05c6bc22
3:9780778 BRPF1 G>A	3	9780778	9780778	G	A	BRPF1	c.695G>A	NM_001003694.2	NP_001003694.1:p.(Arg232Gln)	NC_000003.11:g.9780778G>A	VUS	1 lab	2e081a2107
11:47368201 MYBPC3 C>CG	11	47368201	47368202	C	CG	MYBPC3	c.909-7_909-6insC	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368201_47368202insG	(Likely) benign	1 lab	2e0f84d962
22:36680520 MYH9 C>T	22	36680520	36680520	C	T	MYH9	c.5521G>A	NM_002473.6	NP_002464.1:p.(Glu1841Lys)	NC_000022.10:g.36680520C>T	(Likely) pathogenic	1 lab	2e0ff928f4
14:95574079 DICER1 CA>C	14	95574079	95574082	CA	C	DICER1	c.2669del	NM_177438.3	NP_803187.1:p.(Leu890TrpfsTer18)	NC_000014.8:g.95574082del	(Likely) pathogenic	1 lab	2e14a80b92
3:48607321 COL7A1 C>CT	3	48607321	48607322	C	CT	COL7A1	c.7512_7513insA	NM_000094.3	NP_000085.1:p.(Gly2505ArgfsTer5)	NC_000003.11:g.48607321_48607322insT	(Likely) pathogenic	1 lab	2e15350363
19:13318881 CACNA1A G>T	19	13318881	13318881	G	T	CACNA1A				NC_000019.9:g.13318881G>T	(Likely) benign	1 lab	2e18765549
16:31471263 ARMC5 T>C	16	31471263	31471263	T	C	ARMC5				NC_000016.9:g.31471263T>C	VUS	1 lab	2e1c2d60d2
2:29917715 ALK C>T	2	29917715	29917715	C	T	ALK	c.952+1G>A	NM_004304.4	NP_004295.2:p.?	NC_000002.11:g.29917715C>T	VUS	1 lab	2f7e9a9ccb
7:81695841 CACNA2D1 C>CAA	7	81695841	81695842	C	CAA	CACNA2D1	c.659-2_659-1insTT	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81695841_81695842insAA	(Likely) benign	1 lab	2e1cc96549
12:88472889 CEP290 G>A	12	88472889	88472889	G	A	CEP290	c.5344C>T	NM_025114.3	NP_079390.3:p.(Arg1782Ter)	NC_000012.11:g.88472889G>A	(Likely) pathogenic	1 lab	2e1ed6da2b
5:156899925 NIPAL4 C>T	5	156899925	156899925	C	T	NIPAL4	c.1358C>T	NM_001099287.1	NP_001092757.1:p.(Ser453Leu)	NC_000005.9:g.156899925C>T	(Likely) benign	1 lab	2e206e1cb6
8:141542698 MISSING G>A	8	141542698	141542698	G	A	MISSING				NC_000008.10:g.141542698G>A	VUS	1 lab	2e24fd8100
15:75189992 MPI T>C	15	75189992	75189992	T	C	MPI	c.1193T>C	NM_002435.3	NP_002426.1:p.(Ile398Thr)	NC_000015.9:g.75189992T>C	(Likely) pathogenic	1 lab	2e25d312ea
1:5926432 NPHP4 C>T	1	5926432	5926432	C	T	NPHP4	c.3644+1G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5926432C>T	(Likely) pathogenic	1 lab	1f22848873
3:38950646 SCN11A TGAA>T	3	38950646	38950657	TGAA	T	SCN11A	c.1138_1140del	NM_001349253.2	NP_001336182.1:p.(Phe380del)	NC_000003.11:g.38950655_38950657del	VUS	1 lab	2e29e20fdc
2:179582842 TTN C>T	2	179582842	179582842	C	T	TTN	c.21159G>A	NM_133378.4	NP_596869.4:p.(Trp7053Ter)	NC_000002.11:g.179582842C>T	VUS	1 lab	2e2f2b300d
4:114277642 ANK2 C>G	4	114277642	114277642	C	G	ANK2	c.7868C>G	NM_001148.5	NP_001139.3:p.(Ser2623Cys)	NC_000004.11:g.114277642C>G	(Likely) benign	1 lab	2e37ba684d
X:152958921 SLC6A8 G>A	X	152958921	152958921	G	A	SLC6A8	c.1021G>A	NM_005629.3	NP_005620.1:p.(Ala341Thr)	NC_000023.10:g.152958921G>A	(Likely) benign	1 lab	2e38998ad0
2:203420177 BMPR2 C>T	2	203420177	203420177	C	T	BMPR2	c.1789C>T	NM_001204.6	NP_001195.2:p.(Arg597Ter)	NC_000002.11:g.203420177C>T	(Likely) pathogenic	1 lab	2e3d16885f
3:38912984 SCN11A T>A	3	38912984	38912984	T	A	SCN11A	c.3711A>T	NM_001349253.2	NP_001336182.1:p.(Lys1237Asn)	NC_000003.11:g.38912984T>A	(Likely) benign	1 lab	2e401ee8b1
1:228563711 OBSCN G>A	1	228563711	228563711	G	A	OBSCN	c.25660G>A	NM_001271223.2	NP_001258152.2:p.(Gly8554Ser)	NC_000001.10:g.228563711G>A	(Likely) benign	1 lab	2e417cc053
6:32006368 CYP21A2 G>A	6	32006368	32006368	G	A	CYP21A2	c.169G>A	NM_000500.7	NP_000491.4:p.(Gly57Arg)	NC_000006.11:g.32006368G>A	(Likely) pathogenic	1 lab	2e45c606ac
22:42605992 TCF20 G>A	22	42605992	42605992	G	A	TCF20	c.5320C>T	NM_005650.3	NP_005641.1:p.(Gln1774Ter)	NC_000022.10:g.42605992G>A	(Likely) pathogenic	1 lab	2e479f2d6e
3:97508895 ARL6 T>TTGTG	3	97508895	97508935	T	TTGTG	ARL6	c.480-1683_480-1680dup	NM_177976.3	NP_816931.1:p.?	NC_000003.11:g.97508932_97508935dup	(Likely) benign	1 lab	043a01af14
7:147183138 CNTNAP2 G>A	7	147183138	147183138	G	A	CNTNAP2	c.1777+5G>A	NM_014141.5	NP_054860.1:p.?	NC_000007.13:g.147183138G>A	(Likely) pathogenic	1 lab	2e5183e146
10:112581453 RBM20 G>T	10	112581453	112581453	G	T	RBM20	c.3076G>T	NM_001134363.3	NP_001127835.2:p.(Glu1026Ter)	NC_000010.10:g.112581453G>T	VUS	1 lab	2e54b33b17
15:28090177 OCA2 G>A	15	28090177	28090177	G	A	OCA2	c.2360C>T	NM_000275.2	NP_000266.2:p.(Ala787Val)	NC_000015.9:g.28090177G>A	(Likely) pathogenic	1 lab	2e5681d29c
5:156768124 MISSING A>G	5	156768124	156768124	A	G	MISSING				NC_000005.9:g.156768124A>G	(Likely) pathogenic	1 lab	2e56ee65f2
4:114279414 ANK2 A>G	4	114279414	114279414	A	G	ANK2	c.9640A>G	NM_001148.5	NP_001139.3:p.(Thr3214Ala)	NC_000004.11:g.114279414A>G	(Likely) benign	1 lab	2e58f7138e
3:10382021 ATP2B2 G>A	3	10382021	10382021	G	A	ATP2B2	c.3142C>T	NM_001001331.4	NP_001001331.1:p.(Gln1048Ter)	NC_000003.11:g.10382021G>A	(Likely) pathogenic	1 lab	2e5a890d6d
X:119590523 LAMP2 T>C	X	119590523	119590523	T	C	LAMP2	c.166A>G	NM_001122606.1	NP_001116078.1:p.(Thr56Ala)	NC_000023.10:g.119590523T>C	VUS	1 lab	2e5cdd37a3
17:26857788 FOXN1 T>C	17	26857788	26857788	T	C	FOXN1	c.852T>C	NM_003593.2	NP_003584.2:p.(Leu284=)	NC_000017.10:g.26857788T>C	(Likely) benign	1 lab	2e613863c4
1:97981322 DPYD C>T	1	97981322	97981322	C	T	DPYD	c.1700G>A	NM_000110.4	NP_000101.2:p.(Gly567Glu)	NC_000001.10:g.97981322C>T	(Likely) pathogenic	1 lab	2e615ec5aa
2:167321979 SCN7A C>T	2	167321979	167321979	C	T	SCN7A	c.934G>A	NM_002976.4	NP_002967.2:p.(Asp312Asn)	NC_000002.11:g.167321979C>T	VUS	1 lab	2e61d72b08
8:61763836 CHD7 C>G	8	61763836	61763836	C	G	CHD7	c.5623C>G	NM_017780.3	NP_060250.2:p.(Pro1875Ala)	NC_000008.10:g.61763836C>G	VUS	1 lab	2e66a586a2
10:88659758 BMPR1A T>A	10	88659758	88659758	T	A	BMPR1A	c.431-26T>A	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88659758T>A	(Likely) benign	1 lab	2e69349fcc
7:128496657 FLNC C>T	7	128496657	128496657	C	T	FLNC	c.7337C>T	NM_001458.5	NP_001449.3:p.(Thr2446Ile)	NC_000007.13:g.128496657C>T	(Likely) benign	1 lab	2e6c78ef6c
1:228487003 OBSCN CA>C	1	228487003	228487004	CA	C	OBSCN	c.13255del	NM_001271223.2	NP_001258152.2:p.(Met4419TrpfsTer12)	NC_000001.10:g.228487004del	(Likely) benign	1 lab	2e6d1d7d78
12:56825340 TIMELESS G>A	12	56825340	56825340	G	A	TIMELESS	c.736C>T	NM_003920.3	NP_003911.2:p.(Arg246Trp)	NC_000012.11:g.56825340G>A	VUS	1 lab	2e7232cfc2
4:123184696 BLTP1 G>A	4	123184696	123184696	G	A	BLTP1	c.7082G>A	NM_001384125.1	NP_001371054.1:p.(Arg2361Gln)	NC_000004.11:g.123184696G>A	VUS	1 lab	2e73464d15
2:166243242 SCN2A A>G	2	166243242	166243242	A	G	SCN2A	c.4552-14A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166243242A>G	(Likely) benign	1 lab	043d9f4847
8:100654611 VPS13B C>G	8	100654611	100654611	C	G	VPS13B	c.5793C>G	NM_152564.5	NP_689777.3:p.(Tyr1931Ter)	NC_000008.10:g.100654611C>G	(Likely) pathogenic	1 lab	2e75420d78
16:56553814 BBS2 A>G	16	56553814	56553814	A	G	BBS2				NC_000016.9:g.56553814A>G	(Likely) benign	1 lab	2e757d76cd
X:107821585 COL4A5 T>C	X	107821585	107821585	T	C	COL4A5	c.752T>C	NM_000495.5	NP_000486.1:p.(Ile251Thr)	NC_000023.10:g.107821585T>C	(Likely) benign	1 lab	043f8ecb94
1:12024356 PLOD1 G>A	1	12024356	12024356	G	A	PLOD1	c.1327G>A	NM_000302.3	NP_000293.2:p.(Val443Ile)	NC_000001.10:g.12024356G>A	VUS	1 lab	2e794a8694
2:179644031 TTN T>C	2	179644031	179644031	T	C	TTN	c.3888A>G	NM_001267550.2	NP_001254479.2:p.(Arg1296=)	NC_000002.11:g.179644031T>C	(Likely) benign	1 lab	2e7c00db95
7:103061809 SLC26A5 C>T	7	103061809	103061809	C	T	SLC26A5	c.152+1G>A	NM_198999.2	NP_945350.1:p.?	NC_000007.13:g.103061809C>T	VUS	1 lab	2e7c2583ad
X:41205589 DDX3X C>G	X	41205589	41205589	C	G	DDX3X	c.1423C>G	NM_001356.5	NP_001347.3:p.(Arg475Gly)	NC_000023.10:g.41205589C>G	(Likely) pathogenic	1 lab	2e832b29f6
16:2159707 PKD1 A>AC	16	2159707	2159710	A	AC	PKD1	c.5460dup	NM_001009944.2	NP_001009944.2:p.(Ser1821ValfsTer169)	NC_000016.9:g.2159710dup	(Likely) pathogenic	1 lab	0440b52f82
14:30047583 PRKD1 G>C	14	30047583	30047583	G	C	PRKD1	c.2435-17C>G	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30047583G>C	(Likely) benign	1 lab	2e8d2d348c
18:59810570 PIGN A>C	18	59810570	59810570	A	C	PIGN	c.932T>G	NM_176787.4	NP_789744.1:p.(Leu311Trp)	NC_000018.9:g.59810570A>C	(Likely) pathogenic	1 lab	2e8e60039b
9:138671376 KCNT1 G>C	9	138671376	138671376	G	C	KCNT1	c.2841+60G>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138671376G>C	(Likely) benign	1 lab	0443995dc2
17:73832207 UNC13D G>A	17	73832207	73832207	G	A	UNC13D	c.1447-17C>T	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73832207G>A	(Likely) benign	1 lab	0444b7b681
1:228404382 OBSCN G>A	1	228404382	228404382	G	A	OBSCN	c.2356G>A	NM_001271223.2	NP_001258152.2:p.(Ala786Thr)	NC_000001.10:g.228404382G>A	(Likely) benign	1 lab	2e8fcd2fba
17:59878779 BRIP1 T>C	17	59878779	59878779	T	C	BRIP1	c.975A>G	NM_032043.3	NP_114432.2:p.(Leu325=)	NC_000017.10:g.59878779T>C	(Likely) benign	1 lab	2e95fd5e26
19:38939355 RYR1 G>T	19	38939355	38939355	G	T	RYR1	c.1024G>T	NM_000540.2	NP_000531.2:p.(Glu342Ter)	NC_000019.9:g.38939355G>T	(Likely) pathogenic	1 lab	2e981270bf
16:67470268 ATP6V0D1 C>T	16	67470268	67470268	C	T	ATP6V0D1				NC_000016.9:g.67470268C>T	(Likely) pathogenic	1 lab	2f88bfed11
20:398278 RBCK1 G>T	20	398278	398278	G	T	RBCK1	c.261+15G>T	NM_031229.3	NP_112506.2:p.?	NC_000020.10:g.398278G>T	(Likely) benign	1 lab	36ffc4fe71
13:32911914 BRCA2 C>T	13	32911914	32911914	C	T	BRCA2	c.3422C>T	NM_000059.3	NP_000050.2:p.(Thr1141Ile)	NC_000013.10:g.32911914C>T	(Likely) benign	1 lab	2e9bcb14c6
7:154172020 DPP6 C>T	7	154172020	154172020	C	T	DPP6				NC_000007.13:g.154172020C>T	(Likely) benign	1 lab	2e9c55b790
2:227973623 COL4A4 A>G	2	227973623	227973623	A	G	COL4A4	c.658-39T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227973623A>G	(Likely) benign	1 lab	2e9e9fbbfa
17:7917237 GUCY2D G>A	17	7917237	7917237	G	A	GUCY2D	c.2303G>A	NM_000180.3	NP_000171.1:p.(Arg768Gln)	NC_000017.10:g.7917237G>A	(Likely) pathogenic	1 lab	2ea0ef0379
22:37158995 IFT27 G>A	22	37158995	37158995	G	A	IFT27	c.412C>T	NM_006860.5	NP_006851.1:p.(Arg138Trp)	NC_000022.10:g.37158995G>A	(Likely) benign	1 lab	0446da88c5
14:60976186 SIX6 A>G	14	60976186	60976186	A	G	SIX6	c.70A>G	NM_007374.2	NP_031400.2:p.(Ser24Gly)	NC_000014.8:g.60976186A>G	VUS	1 lab	2ea736cb97
5:112177754 APC G>A	5	112177754	112177754	G	A	APC	c.6463G>A	NM_000038.6	NP_000029.2:p.(Glu2155Lys)	NC_000005.9:g.112177754G>A	VUS	1 lab	2ea8abaea0
7:92084016 GATAD1 G>A	7	92084016	92084016	G	A	GATAD1	c.619+17G>A	NM_021167.5	NP_066990.3:p.?	NC_000007.13:g.92084016G>A	(Likely) benign	1 lab	0447bb6577
9:127255362 NR5A1 G>A	9	127255362	127255362	G	A	NR5A1	c.937C>T	NM_004959.5	NP_004950.2:p.(Arg313Cys)	NC_000009.11:g.127255362G>A	VUS	1 lab	0448bfb6e3
10:50835781 CHAT C>T	10	50835781	50835781	C	T	CHAT	c.1061C>T	NM_020549.4	NP_065574.3:p.(Thr354Met)	NC_000010.10:g.50835781C>T	VUS	1 lab	2eb4748394
2:166848878 SCN1A C>T	2	166848878	166848878	C	T	SCN1A				NC_000002.11:g.166848878C>T	(Likely) pathogenic	1 lab	2eb796606b
13:78474699 EDNRB T>A	13	78474699	78474699	T	A	EDNRB	c.1042A>T	NM_000115.3	NP_000106.1:p.(Thr348Ser)	NC_000013.10:g.78474699T>A	VUS	1 lab	2eb7ed1a9e
13:32968965 BRCA2 A>G	13	32968965	32968965	A	G	BRCA2	c.9396A>G	NM_000059.3	NP_000050.2:p.(Lys3132=)	NC_000013.10:g.32968965A>G	(Likely) benign	1 lab	2ebb5f5e22
1:171076952 FMO3 C>T	1	171076952	171076952	C	T	FMO3	c.458C>T	NM_001002294.3	NP_001002294.1:p.(Pro153Leu)	NC_000001.10:g.171076952C>T	(Likely) pathogenic	1 lab	2ebc52c90a
7:91624937 AKAP9 G>A	7	91624937	91624937	G	A	AKAP9	c.753G>A	NM_005751.4	NP_005742.4:p.(Leu251=)	NC_000007.13:g.91624937G>A	(Likely) benign	1 lab	2ec1711d97
3:93611868 PROS1 C>T	3	93611868	93611868	C	T	PROS1	c.1064G>A	NM_000313.4	NP_000304.2:p.(Arg355His)	NC_000003.11:g.93611868C>T	(Likely) pathogenic	1 lab	2ec310ecc1
3:121720598 ILDR1 C>A	3	121720598	121720598	C	A	ILDR1	c.493G>T	NM_001199799.1	NP_001186728.1:p.(Val165Phe)	NC_000003.11:g.121720598C>A	VUS	1 lab	2ec66ec544
3:121553904 IQCB1 A>G	3	121553904	121553904	A	G	IQCB1	c.-193T>C	NM_001023570.2	NP_001018864.2:p.?	NC_000003.11:g.121553904A>G	(Likely) benign	1 lab	2ec6dd3526
17:29559783 NF1 C>G	17	29559783	29559783	C	G	NF1	c.3380C>G	NM_000267.3	NP_000258.1:p.(Thr1127Arg)	NC_000017.10:g.29559783C>G	(Likely) benign	1 lab	2ec7a77c8d
X:153588472 FLNA C>T	X	153588472	153588472	C	T	FLNA	c.3691G>A	NM_001456.3	NP_001447.2:p.(Val1231Ile)	NC_000023.10:g.153588472C>T	VUS	1 lab	2ec87e3487
15:85400803 ALPK3 G>A	15	85400803	85400803	G	A	ALPK3	c.3440G>A	NM_020778.4	NP_065829.3:p.(Arg1147Gln)	NC_000015.9:g.85400803G>A	VUS	1 lab	044d598c71
17:7578463 TP53 C>T	17	7578463	7578463	C	T	TP53	c.467G>A	NM_000546.5	NP_000537.3:p.(Arg156His)	NC_000017.10:g.7578463C>T	VUS	1 lab	2ed13b3437
16:20360420 UMOD T>C	16	20360420	20360420	T	C	UMOD	c.203A>G	NM_003361.3	NP_003352.2:p.(Glu68Gly)	NC_000016.9:g.20360420T>C	VUS	1 lab	2ed48eb0bf
12:6128640 VWF C>T	12	6128640	6128640	C	T	VWF	c.3944G>A	NM_000552.3	NP_000543.2:p.(Arg1315His)	NC_000012.11:g.6128640C>T	(Likely) pathogenic	1 lab	2ed90ab95d
12:112926872 PTPN11 C>T	12	112926872	112926872	C	T	PTPN11	c.1492C>T	NM_002834.3	NP_002825.3:p.(Arg498Trp)	NC_000012.11:g.112926872C>T	(Likely) pathogenic	1 lab	2edc1c9b37
X:110644330 DCX A>G	X	110644330	110644330	A	G	DCX	c.593T>C	NM_001195553.2	NP_001182482.1:p.(Leu198Pro)	NC_000023.10:g.110644330A>G	(Likely) pathogenic	1 lab	2eddfc8a8c
12:49426694 KMT2D G>C	12	49426694	49426694	G	C	KMT2D	c.11794C>G	NM_003482.4	NP_003473.3:p.(Gln3932Glu)	NC_000012.11:g.49426694G>C	(Likely) benign	1 lab	2ede74d8f7
X:153764211 G6PD A>G	X	153764211	153764211	A	G	G6PD	c.298T>C	NM_000402.4	NP_000393.4:p.(Tyr100His)	NC_000023.10:g.153764211A>G	(Likely) pathogenic	1 lab	2edeb8d7f9
1:216373416 USH2A A>C	1	216373416	216373416	A	C	USH2A	c.3364T>G	NM_206933.2	NP_996816.2:p.(Ser1122Ala)	NC_000001.10:g.216373416A>C	(Likely) benign	1 lab	2ee3eeac30
14:23882144 MYH7 T>C	14	23882144	23882144	T	C	MYH7	c.5791-64A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23882144T>C	(Likely) benign	1 lab	2ee7f52527
5:145719655 POU4F3 C>T	5	145719655	145719655	C	T	POU4F3				NC_000005.9:g.145719655C>T	VUS	1 lab	3721bf6f3f
11:108236152 ATM G>A	11	108236152	108236152	G	A	ATM	c.9088G>A	NM_000051.3	NP_000042.3:p.(Gly3030Arg)	NC_000011.9:g.108236152G>A	VUS	1 lab	2eeb53736c
8:72127696 EYA1 G>A	8	72127696	72127696	G	A	EYA1	c.1523C>T	NM_000503.5	NP_000494.2:p.(Ala508Val)	NC_000008.10:g.72127696G>A	VUS	1 lab	2ef07a0b0b
19:18980936 GDF1 C>T	19	18980936	18980936	C	T	GDF1	c.181G>A	NM_001492.5	NP_001483.3:p.(Val61Ile)	NC_000019.9:g.18980936C>T	(Likely) benign	1 lab	2ef5b7a14f
12:6132007 VWF T>C	12	6132007	6132007	T	C	VWF	c.3437A>G	NM_000552.3	NP_000543.2:p.(Tyr1146Cys)	NC_000012.11:g.6132007T>C	(Likely) pathogenic	1 lab	2ef64b8951
1:152281690 FLG C>T	1	152281690	152281690	C	T	FLG	c.5672G>A	NM_002016.1	NP_002007.1:p.(Arg1891Gln)	NC_000001.10:g.152281690C>T	(Likely) benign	1 lab	2ef7628c6e
3:38991701 SCN11A C>A	3	38991701	38991701	C	A	SCN11A	c.153G>T	NM_014139.2	NP_054858.2:p.(Arg51=)	NC_000003.11:g.38991701C>A	(Likely) benign	1 lab	2ef8665b92
3:37090047 MLH1 T>G	3	37090047	37090047	T	G	MLH1	c.1936T>G	NM_000249.3	NP_000240.1:p.(Tyr646Asp)	NC_000003.11:g.37090047T>G	VUS	1 lab	2efa62fbf6
11:128651904 FLI1 T>A	11	128651904	128651904	T	A	FLI1	c.641T>A	NM_002017.5	NP_002008.2:p.(Leu214Ter)	NC_000011.9:g.128651904T>A	VUS	1 lab	2efbcf10e2
1:201330502 TNNT2 A>T	1	201330502	201330502	A	T	TNNT2	c.690-5T>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201330502A>T	(Likely) benign	1 lab	2efc5d1453
1:45796241 MUTYH G>T	1	45796241	45796241	G	T	MUTYH	c.1477-12C>A	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45796241G>T	(Likely) benign	1 lab	2f0130028d
10:127460834 MMP21 G>A	10	127460834	127460834	G	A	MMP21	c.932C>T	NM_147191.1	NP_671724.1:p.(Ala311Val)	NC_000010.10:g.127460834G>A	(Likely) benign	1 lab	2f018c7496
14:23887429 MYH7 C>T	14	23887429	23887429	C	T	MYH7	c.4159G>A	NM_000257.2	NP_000248.2:p.(Glu1387Lys)	NC_000014.8:g.23887429C>T	(Likely) pathogenic	1 lab	0453847c29
15:83378339 AP3B2 C>T	15	83378339	83378339	C	T	AP3B2	c.113+7G>A	NM_001348440.1	NP_001335369.1:p.?	NC_000015.9:g.83378339C>T	(Likely) benign	1 lab	0453fa6f79
3:121491451 IQCB1 CTG>C	3	121491451	121491455	CTG	C	IQCB1	c.1518_1519del	NM_001023570.4	NP_001018864.2:p.(His506GlnfsTer13)	NC_000003.11:g.121491454_121491455del	(Likely) pathogenic	1 lab	2f0898199c
2:179622490 TTN G>A	2	179622490	179622490	G	A	TTN	c.10457C>T	NM_001267550.2	NP_001254479.2:p.(Ala3486Val)	NC_000002.11:g.179622490G>A	(Likely) benign	1 lab	2f0a6824c2
11:17419977 ABCC8 C>T	11	17419977	17419977	C	T	ABCC8	c.3662G>A	NM_001351296.1	NP_001338225.1:p.(Arg1221Gln)	NC_000011.9:g.17419977C>T	VUS	1 lab	2f0df4977b
3:93768420 ARL13B GA>G	3	93768420	93768431	GA	G	ARL13B	c.1141+65del	NM_001174150.2	NP_001167621.1:p.?	NC_000003.11:g.93768431del	(Likely) benign	1 lab	04559945b6
2:223917773 KCNE4 C>T	2	223917773	223917773	C	T	KCNE4	c.378C>T	NM_080671.3	NP_542402.3:p.(Asp126=)	NC_000002.11:g.223917773C>T	(Likely) benign	1 lab	2f1045014a
14:23886907 MYH7 A>T	14	23886907	23886907	A	T	MYH7	c.4170-12T>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23886907A>T	(Likely) benign	1 lab	2f10541600
17:29562761 NF1 GC>G	17	29562761	29562763	GC	G	NF1	c.3843del	NM_001042492.3	NP_001035957.1:p.(Ser1282ValfsTer3)	NC_000017.10:g.29562763del	(Likely) pathogenic	1 lab	2f13882109
8:23563991 NKX2-6 A>T	8	23563991	23563991	A	T	NKX2-6	c.121T>A	NM_001136271.2	NP_001129743.2:p.(Phe41Ile)	NC_000008.10:g.23563991A>T	(Likely) benign	1 lab	2f13c716f2
1:155447844 ASH1L AG>A	1	155447844	155447846	AG	A	ASH1L	c.4816del	NM_018489.2	NP_060959.2:p.(Leu1606PhefsTer6)	NC_000001.10:g.155447846del	(Likely) pathogenic	1 lab	2f14a24e27
11:47354490 MYBPC3 G>C	11	47354490	47354490	G	C	MYBPC3	c.3365C>G	NM_000256.3	NP_000247.2:p.(Thr1122Ser)	NC_000011.9:g.47354490G>C	VUS	1 lab	2f1693bf70
20:30898689 KIF3B A>T	20	30898689	30898689	A	T	KIF3B	c.1109A>T	NM_004798.4	NP_004789.1:p.(Glu370Val)	NC_000020.10:g.30898689A>T	VUS	1 lab	2f17388bb6
13:32914452 BRCA2 A>G	13	32914452	32914452	A	G	BRCA2	c.5960A>G	NM_000059.3	NP_000050.2:p.(Gln1987Arg)	NC_000013.10:g.32914452A>G	(Likely) benign	1 lab	2f18d1979c
17:54672102 NOG T>A	17	54672102	54672102	T	A	NOG	c.518T>A	NM_005450.4	NP_005441.1:p.(Val173Glu)	NC_000017.10:g.54672102T>A	VUS	1 lab	2f1a13354c
5:42699990 GHR T>G	5	42699990	42699990	T	G	GHR	c.504T>G	NM_000163.5	NP_000154.1:p.(His168Gln)	NC_000005.9:g.42699990T>G	VUS	1 lab	2f1eca3230
13:32936831 BRCA2 G>A	13	32936831	32936831	G	A	BRCA2	c.7976+1G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936831G>A	(Likely) pathogenic	1 lab	2f21c14603
10:89720877 PTEN T>A	10	89720877	89720877	T	A	PTEN	c.1026+2T>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720877T>A	(Likely) pathogenic	1 lab	2f22070d02
20:25257373 PYGB A>G	20	25257373	25257373	A	G	PYGB	c.752A>G	NM_002862.3	NP_002853.2:p.(Asn251Ser)	NC_000020.10:g.25257373A>G	VUS	1 lab	2f246f9fd3
X:77225018 PGAM4 G>A	X	77225018	77225018	G	A	PGAM4	c.118C>T	NM_001029891.2	NP_001025062.1:p.(Arg40Cys)	NC_000023.10:g.77225018G>A	(Likely) benign	1 lab	2f251ef795
19:39076578 RYR1 G>A	19	39076578	39076578	G	A	RYR1	c.14804G>A	NM_000540.3	NP_000531.2:p.(Gly4935Asp)	NC_000019.9:g.39076578G>A	(Likely) pathogenic	1 lab	2f29219b5f
16:29809965 KIF22 G>A	16	29809965	29809965	G	A	KIF22				NC_000016.9:g.29809965G>A	(Likely) pathogenic	1 lab	2f2c01a466
2:74213551 TET3 C>T	2	74213551	74213551	C	T	TET3	c.21C>T	NM_001287491.2	NP_001274420.1:p.(Pro7=)	NC_000002.11:g.74213551C>T	VUS	1 lab	2f2fc920e7
17:41245421 BRCA1 A>ATC	17	41245421	41245422	A	ATC	BRCA1	c.2126_2127insGA	NM_007294.3	NP_009225.1:p.(Phe709LeufsTer28)	NC_000017.10:g.41245421_41245422insTC	(Likely) pathogenic	1 lab	2f300b1e94
6:126080848 HEY2 C>T	6	126080848	126080848	C	T	HEY2	c.914C>T	NM_012259.2	NP_036391.1:p.(Pro305Leu)	NC_000006.11:g.126080848C>T	VUS	1 lab	2f32e954d2
8:145738583 RECQL4 G>T	8	145738583	145738583	G	T	RECQL4	c.2463+18C>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738583G>T	(Likely) benign	1 lab	2f366576ce
2:228009292 COL4A4 C>T	2	228009292	228009292	C	T	COL4A4	c.72-18G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228009292C>T	(Likely) benign	1 lab	0455c14291
16:89371619 ANKRD11 T>C	16	89371619	89371619	T	C	ANKRD11	c.221A>G	NM_013275.5	NP_037407.4:p.(Asp74Gly)	NC_000016.9:g.89371619T>C	VUS	1 lab	2f37cbc009
1:196642207 CFH G>A	1	196642207	196642207	G	A	CFH	c.158G>A	NM_000186.3	NP_000177.2:p.(Arg53His)	NC_000001.10:g.196642207G>A	(Likely) pathogenic	1 lab	2f37cbd83e
20:62119739 EEF1A2 A>G	20	62119739	62119739	A	G	EEF1A2	c.1304T>C	NM_001958.5	NP_001949.1:p.(Val435Ala)	NC_000020.10:g.62119739A>G	VUS	1 lab	2f3996d645
4:77097574 SCARB2 A>G	4	77097574	77097574	A	G	SCARB2	c.704+16T>C	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77097574A>G	(Likely) benign	1 lab	1f255a5e27
20:31021250 ASXL1 C>T	20	31021250	31021250	C	T	ASXL1	c.1249C>T	NM_015338.6	NP_056153.2:p.(Arg417Ter)	NC_000020.10:g.31021250C>T	(Likely) pathogenic	1 lab	2f3db32c1b
17:33434006 RAD51D C>T	17	33434006	33434006	C	T	RAD51D	c.480+1G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33434006C>T	(Likely) pathogenic	1 lab	2f57a030b5
9:140672457 EHMT1 A>G	9	140672457	140672457	A	G	EHMT1	c.2142A>G	NM_024757.4	NP_079033.4:p.(Gly714=)	NC_000009.11:g.140672457A>G	(Likely) benign	1 lab	2f3ec04f90
11:2549061 KCNQ1 G>C	11	2549061	2549061	G	C	KCNQ1	c.387-97G>C	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2549061G>C	(Likely) benign	1 lab	2f4033817d
6:152590401 SYNE1 C>G	6	152590401	152590401	C	G	SYNE1				NC_000006.11:g.152590401C>G	(Likely) benign	1 lab	2f42d30ec7
19:6714374 C3 C>T	19	6714374	6714374	C	T	C3	c.588G>A	NM_000064.3	NP_000055.2:p.(Pro196=)	NC_000019.9:g.6714374C>T	(Likely) benign	1 lab	2f4315e799
8:61763045 CHD7 G>A	8	61763045	61763045	G	A	CHD7				NC_000008.10:g.61763045G>A	(Likely) pathogenic	1 lab	2fa7170e6f
X:153628933 RPL10 G>A	X	153628933	153628933	G	A	RPL10	c.458G>A	NM_006013.3	NP_006004.2:p.(Arg153His)	NC_000023.10:g.153628933G>A	(Likely) pathogenic	1 lab	2f458ad097
2:47690182 MSH2 G>T	2	47690182	47690182	G	T	MSH2	c.1399G>T	NM_000251.2	NP_000242.1:p.(Glu467Ter)	NC_000002.11:g.47690182G>T	(Likely) pathogenic	1 lab	2f472c7982
20:32000477 SNTA1 C>CA	20	32000477	32000478	C	CA	SNTA1	c.812dup	NM_003098.2	NP_003089.1:p.(Thr272AspfsTer7)	NC_000020.10:g.32000478dup	VUS	1 lab	2f4a56d6ee
3:38524697 ACVR2B G>A	3	38524697	38524697	G	A	ACVR2B	c.1413G>A	NM_001106.4	NP_001097.2:p.(Ala471=)	NC_000003.11:g.38524697G>A	VUS	1 lab	3d273814c6
1:202724408 KDM5B T>C	1	202724408	202724408	T	C	KDM5B	c.1529A>G	NM_006618.3	NP_006609.3:p.(Tyr510Cys)	NC_000001.10:g.202724408T>C	(Likely) benign	1 lab	2f4f86cd05
13:113773012 F7 G>A	13	113773012	113773012	G	A	F7	c.1091G>A	NM_000131.4	NP_000122.1:p.(Arg364Gln)	NC_000013.10:g.113773012G>A	(Likely) pathogenic	1 lab	2f4f8fc038
5:68788261 OCLN G>A	5	68788261	68788261	G	A	OCLN	c.-294G>A	NM_002538.3	NP_002529.1:p.?	NC_000005.9:g.68788261G>A	(Likely) benign	1 lab	eca7d90d06
17:33875832 SLFN14 T>C	17	33875832	33875832	T	C	SLFN14	c.2165A>G	NM_001129820.2	NP_001123292.1:p.(Gln722Arg)	NC_000017.10:g.33875832T>C	VUS	1 lab	2f4fb17309
8:106814983 ZFPM2 C>G	8	106814983	106814983	C	G	ZFPM2	c.2673C>G	NM_012082.3	NP_036214.2:p.(Asp891Glu)	NC_000008.10:g.106814983C>G	(Likely) benign	1 lab	2f500b2cef
16:31476186 ARMC5 C>G	16	31476186	31476186	C	G	ARMC5	c.1842C>G	NM_001105247.1	NP_001098717.1:p.(Leu614=)	NC_000016.9:g.31476186C>G	(Likely) benign	1 lab	2f51f483a7
9:73255514 TRPM3 C>T	9	73255514	73255514	C	T	TRPM3	c.949G>A	NM_020952.6	NP_066003.3:p.(Ala317Thr)	NC_000009.11:g.73255514C>T	VUS	1 lab	2f577f959f
16:56920379 SLC12A3 G>A	16	56920379	56920379	G	A	SLC12A3	c.2029G>A	NM_000339.2	NP_000330.2:p.(Val677Met)	NC_000016.9:g.56920379G>A	(Likely) pathogenic	1 lab	2f5a01c746
1:103347257 COL11A1 T>G	1	103347257	103347257	T	G	COL11A1	c.5036A>C	NM_001854.4	NP_001845.3:p.(Lys1679Thr)	NC_000001.10:g.103347257T>G	VUS	1 lab	2f5b487ac7
2:166229841 SCN2A G>T	2	166229841	166229841	G	T	SCN2A				NC_000002.11:g.166229841G>T	(Likely) pathogenic	1 lab	2f5eb323ee
17:39914969 JUP T>G	17	39914969	39914969	T	G	JUP	c.1651A>C	NM_002230.2	NP_002221.1:p.(Thr551Pro)	NC_000017.10:g.39914969T>G	(Likely) benign	1 lab	2f5f28b080
8:10467703 RP1L1 T>G	8	10467703	10467703	T	G	RP1L1	c.3905A>C	NM_178857.6	NP_849188.4:p.(Gln1302Pro)	NC_000008.10:g.10467703T>G	VUS	1 lab	2f81fa9007
12:112891102 PTPN11 G>T	12	112891102	112891102	G	T	PTPN11	c.436G>T	NM_002834.3	NP_002825.3:p.(Asp146Tyr)	NC_000012.11:g.112891102G>T	(Likely) pathogenic	1 lab	2f61ed72b6
9:75369768 TMC1 G>A	9	75369768	75369768	G	A	TMC1	c.709G>A	NM_138691.2	NP_619636.2:p.(Ala237Thr)	NC_000009.11:g.75369768G>A	VUS	1 lab	2f686d00d3
11:47372877 MYBPC3 G>A	11	47372877	47372877	G	A	MYBPC3	c.205C>T	NM_000256.3	NP_000247.2:p.(Arg69Trp)	NC_000011.9:g.47372877G>A	VUS	1 lab	2f6b6bc006
3:12632388 RAF1 T>C	3	12632388	12632388	T	C	RAF1	c.1279A>G	NM_002880.3	NP_002871.1:p.(Ser427Gly)	NC_000003.11:g.12632388T>C	(Likely) pathogenic	1 lab	2f6c38eb9a
3:123166425 ADCY5 C>T	3	123166425	123166425	C	T	ADCY5	c.968G>A	NM_183357.3	NP_899200.1:p.(Arg323His)	NC_000003.11:g.123166425C>T	VUS	1 lab	2f6f53bc28
5:58289199 PDE4D CTAAGAA>C	5	58289199	58289206	CTAAGAA	C	PDE4D	c.1009_1014del	NM_001104631.2	NP_001098101.1:p.(Phe337_Leu338del)	NC_000005.9:g.58289201_58289206del	VUS	1 lab	2f71ccba01
11:74168305 KCNE3 T>C	11	74168305	74168305	T	C	KCNE3	c.304A>G	NM_005472.5	NP_005463.1:p.(Met102Val)	NC_000011.9:g.74168305T>C	(Likely) benign	1 lab	2f72fbef82
2:73675560 MISSING T>C	2	73675560	73675560	T	C	MISSING				NC_000002.11:g.73675560T>C	(Likely) benign	1 lab	2f732d7916
14:23856714 MYH6 G>A	14	23856714	23856714	G	A	MYH6	c.4650+24C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23856714G>A	(Likely) benign	1 lab	2f7608cbc5
1:103345260 COL11A1 T>G	1	103345260	103345260	T	G	COL11A1	c.5253A>C	NM_001854.4	NP_001845.3:p.(Lys1751Asn)	NC_000001.10:g.103345260T>G	VUS	1 lab	2f7a490f62
3:38640489 SCN5A G>A	3	38640489	38640489	G	A	SCN5A	c.1943C>T	NM_198056.2	NP_932173.1:p.(Pro648Leu)	NC_000003.11:g.38640489G>A	VUS	1 lab	2f8918cd04
2:26695500 OTOF A>C	2	26695500	26695500	A	C	OTOF	c.3751T>G	NM_194248.2	NP_919224.1:p.(Cys1251Gly)	NC_000002.11:g.26695500A>C	(Likely) benign	1 lab	2f897323be
X:53277933 IQSEC2 C>T	X	53277933	53277933	C	T	IQSEC2	c.2429G>A	NM_001111125.3	NP_001104595.1:p.(Arg810Gln)	NC_000023.10:g.53277933C>T	VUS	1 lab	2f89a60dae
2:47702230 MSH2 C>T	2	47702230	47702230	C	T	MSH2	c.1826C>T	NM_000251.2	NP_000242.1:p.(Ala609Val)	NC_000002.11:g.47702230C>T	VUS	1 lab	2f8b60d66b
17:47656399 NXPH3 G>A	17	47656399	47656399	G	A	NXPH3	c.496G>A	NM_007225.2	NP_009156.2:p.(Glu166Lys)	NC_000017.10:g.47656399G>A	VUS	1 lab	2f8bef7fb2
14:63417130 KCNH5 C>T	14	63417130	63417130	C	T	KCNH5	c.1090G>A	NM_139318.5	NP_647479.2:p.(Ala364Thr)	NC_000014.8:g.63417130C>T	VUS	1 lab	2f8d8494ff
20:42788796 JPH2 C>G	20	42788796	42788796	C	G	JPH2	c.631G>C	NM_020433.4	NP_065166.2:p.(Ala211Pro)	NC_000020.10:g.42788796C>G	VUS	1 lab	2f91720194
12:110019252 MVK G>A	12	110019252	110019252	G	A	MVK	c.424G>A	NM_000431.3	NP_000422.1:p.(Gly142Ser)	NC_000012.11:g.110019252G>A	VUS	1 lab	2f92725b9a
19:632941 POLRMT G>C	19	632941	632941	G	C	POLRMT	c.89-3C>G	NM_005035.4	NP_005026.3:p.?	NC_000019.9:g.632941G>C	VUS	1 lab	2f98880968
X:44918491 KDM6A G>A	X	44918491	44918491	G	A	KDM6A	c.975-1G>A	NM_021140.2	NP_066963.2:p.?	NC_000023.10:g.44918491G>A	(Likely) pathogenic	1 lab	2fa22c1bbe
5:70948541 MCCC2 A>G	5	70948541	70948541	A	G	MCCC2	c.1534A>G	NM_022132.4	NP_071415.1:p.(Lys512Glu)	NC_000005.9:g.70948541A>G	VUS	1 lab	2fa29f2928
19:49519893 LHB TG>T	19	49519893	49519897	TG	T	LHB	c.93del	NM_000894.3	NP_000885.1:p.(Ile32SerfsTer30)	NC_000019.9:g.49519897del	(Likely) pathogenic	1 lab	2fa3126ee1
14:21863457 CHD8 C>G	14	21863457	21863457	C	G	CHD8	c.4345G>C	NM_020920.3	NP_065971.2:p.(Ala1449Pro)	NC_000014.8:g.21863457C>G	(Likely) pathogenic	1 lab	2fa40a5688
8:145640245 SLC39A4 A>G	8	145640245	145640245	A	G	SLC39A4	c.765T>C	NM_017767.3	NP_060237.3:p.(Tyr255=)	NC_000008.10:g.145640245A>G	(Likely) benign	1 lab	045dc39e5e
3:121976092 CASR A>G	3	121976092	121976092	A	G	CASR	c.350A>G	NM_000388.3	NP_000379.2:p.(Gln117Arg)	NC_000003.11:g.121976092A>G	(Likely) pathogenic	1 lab	2fabb5c290
12:5153341 KCNA5 A>G	12	5153341	5153341	A	G	KCNA5	c.28A>G	NM_002234.3	NP_002225.2:p.(Asn10Asp)	NC_000012.11:g.5153341A>G	(Likely) benign	1 lab	2fabc1118a
17:10545871 MYH3 G>C	17	10545871	10545871	G	C	MYH3	c.1751C>G	NM_002470.3	NP_002461.2:p.(Ala584Gly)	NC_000017.10:g.10545871G>C	VUS	1 lab	2facb6b725
6:6152137 F13A1 C>G	6	6152137	6152137	C	G	F13A1				NC_000006.11:g.6152137C>G	(Likely) benign	1 lab	2fae7fb60e
16:83948854 MLYCD C>T	16	83948854	83948854	C	T	MLYCD	c.1242C>T	NM_012213.2	NP_036345.2:p.(Tyr414=)	NC_000016.9:g.83948854C>T	(Likely) benign	1 lab	2faeec5730
1:182555753 RNASEL CA>C	1	182555753	182555754	CA	C	RNASEL	c.188del	NM_021133.4	NP_066956.1:p.(Leu63ArgfsTer7)	NC_000001.10:g.182555754del	(Likely) pathogenic	1 lab	2fb429dd8d
6:42689565 PRPH2 CGTT>C	6	42689565	42689572	CGTT	C	PRPH2	c.505_507del	NM_000322.5	NP_000313.2:p.(Asn169del)	NC_000006.11:g.42689570_42689572del	(Likely) pathogenic	1 lab	2fb5fc4deb
8:11616516 GATA4 T>C	8	11616516	11616516	T	C	GATA4	c.*532T>C	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616516T>C	(Likely) benign	1 lab	2fb7a63fff
1:65307155 JAK1 T>C	1	65307155	65307155	T	C	JAK1	c.2533A>G	NM_002227.4	NP_002218.2:p.(Ile845Val)	NC_000001.10:g.65307155T>C	VUS	1 lab	2fb8cd4abc
22:29091731 CHEK2 T>A	22	29091731	29091731	T	A	CHEK2	c.1226A>T	NM_007194.3	NP_009125.1:p.(Asp409Val)	NC_000022.10:g.29091731T>A	VUS	1 lab	2fc19b5ff0
10:89623385 PTEN C>T	10	89623385	89623385	C	T	PTEN	c.-842C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623385C>T	(Likely) benign	1 lab	2fc88d063e
6:72806864 RIMS1 A>C	6	72806864	72806864	A	C	RIMS1	c.458A>C	NM_014989.5	NP_055804.2:p.(Asn153Thr)	NC_000006.11:g.72806864A>C	VUS	1 lab	2fc8aa8b4c
10:95381740 PDE6C C>T	10	95381740	95381740	C	T	PDE6C	c.775C>T	NM_006204.3	NP_006195.3:p.(Arg259Ter)	NC_000010.10:g.95381740C>T	(Likely) pathogenic	1 lab	2fc979d6a8
7:91707164 AKAP9 A>G	7	91707164	91707164	A	G	AKAP9	c.6920A>G	NM_005751.4	NP_005742.4:p.(Gln2307Arg)	NC_000007.13:g.91707164A>G	(Likely) benign	1 lab	2fc9bd0edf
2:242680425 D2HGDH A>T	2	242680425	242680425	A	T	D2HGDH	c.293-23A>T	NM_152783.5	NP_689996.4:p.?	NC_000002.11:g.242680425A>T	(Likely) benign	1 lab	045e8f8189
1:165173196 LMX1A T>C	1	165173196	165173196	T	C	LMX1A	c.1070A>G	NM_177398.3	NP_796372.1:p.(Glu357Gly)	NC_000001.10:g.165173196T>C	VUS	1 lab	2fcb390754
16:56927244 SLC12A3 C>T	16	56927244	56927244	C	T	SLC12A3	c.2548+278C>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56927244C>T	(Likely) benign	1 lab	2fcc94ce66
7:6038824 PMS2 C>T	7	6038824	6038824	C	T	PMS2	c.620G>A	NM_000535.7	NP_000526.2:p.(Gly207Glu)	NC_000007.13:g.6038824C>T	(Likely) benign	1 lab	2fce706b5e
15:85401485 ALPK3 C>G	15	85401485	85401485	C	G	ALPK3	c.4122C>G	NM_020778.4	NP_065829.3:p.(Val1374=)	NC_000015.9:g.85401485C>G	VUS	1 lab	2fce976af3
7:140449182 BRAF A>G	7	140449182	140449182	A	G	BRAF	c.1897T>C	NM_004333.4	NP_004324.2:p.(Tyr633His)	NC_000007.13:g.140449182A>G	VUS	1 lab	2fcebfa258
2:179407236 TTN G>A	2	179407236	179407236	G	A	TTN	c.97247C>T	NM_001267550.2	NP_001254479.2:p.(Ser32416Leu)	NC_000002.11:g.179407236G>A	VUS	1 lab	2fced2c17a
12:100813860 SLC17A8 C>T	12	100813860	100813860	C	T	SLC17A8				NC_000012.11:g.100813860C>T	VUS	1 lab	2fd0069862
17:41199686 BRCA1 G>A	17	41199686	41199686	G	A	BRCA1	c.5441C>T	NM_007294.3	NP_009225.1:p.(Ala1814Val)	NC_000017.10:g.41199686G>A	VUS	1 lab	2fd295a74a
16:68846166 CDH1 G>A	16	68846166	68846166	G	A	CDH1	c.1137G>A	NM_004360.5	NP_004351.1:p.(Thr379=)	NC_000016.9:g.68846166G>A	(Likely) pathogenic	1 lab	2fd79c4f02
12:122359542 CFAP251 G>T	12	122359542	122359542	G	T	CFAP251	c.331G>T	NM_144668.6	NP_653269.3:p.(Glu111Ter)	NC_000012.11:g.122359542G>T	(Likely) pathogenic	1 lab	2fdbc0a12a
9:131287573 GLE1 G>A	9	131287573	131287573	G	A	GLE1	c.1000G>A	NM_001003722.1	NP_001003722.1:p.(Glu334Lys)	NC_000009.11:g.131287573G>A	(Likely) benign	1 lab	045ff757bf
4:186423606 PDLIM3 G>A	4	186423606	186423606	G	A	PDLIM3	c.937C>T	NM_014476.6	NP_055291.2:p.(Arg313Trp)	NC_000004.11:g.186423606G>A	VUS	1 lab	2fdc556f89
8:38287262 FGFR1 T>C	8	38287262	38287262	T	C	FGFR1	c.296A>G	NM_023110.3	NP_075598.2:p.(Tyr99Cys)	NC_000008.10:g.38287262T>C	(Likely) pathogenic	1 lab	2fde26d208
22:32156682 DEPDC5 C>T	22	32156682	32156682	C	T	DEPDC5	c.187C>T	NM_001242896.3	NP_001229825.1:p.(Gln63Ter)	NC_000022.10:g.32156682C>T	(Likely) pathogenic	1 lab	2fe20221b4
17:7574074 TP53 G>A	17	7574074	7574074	G	A	TP53	c.994-41C>T	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7574074G>A	(Likely) benign	1 lab	2fe44c30d7
2:26951083 KCNK3 A>T	2	26951083	26951083	A	T	KCNK3	c.832A>T	NM_002246.2	NP_002237.1:p.(Ser278Cys)	NC_000002.11:g.26951083A>T	(Likely) benign	1 lab	2fe4ccbc4c
16:2152088 PKD1 A>C	16	2152088	2152088	A	C	PKD1	c.9371T>G	NM_001009944.3	NP_001009944.3:p.(Val3124Gly)	NC_000016.9:g.2152088A>C	VUS	1 lab	2fe4f2384b
X:49074949 CACNA1F G>T	X	49074949	49074949	G	T	CACNA1F	c.2926C>A	NM_005183.4	NP_005174.2:p.(Pro976Thr)	NC_000023.10:g.49074949G>T	VUS	1 lab	2fe70c2176
10:112404359 RBM20 G>A	10	112404359	112404359	G	A	RBM20	c.147G>A	NM_001134363.2	NP_001127835.2:p.(Gln49=)	NC_000010.10:g.112404359G>A	(Likely) benign	1 lab	2fea33d5c3
1:11345754 UBIAD1 G>A	1	11345754	11345754	G	A	UBIAD1	c.583G>A	NM_013319.2	NP_037451.1:p.(Gly195Ser)	NC_000001.10:g.11345754G>A	VUS	1 lab	2fea5ae6aa
20:32031313 SNTA1 G>C	20	32031313	32031313	G	C	SNTA1	c.114C>G	NM_003098.2	NP_003089.1:p.(Asp38Glu)	NC_000020.10:g.32031313G>C	(Likely) benign	1 lab	2fec051238
10:85968504 CDHR1 A>G	10	85968504	85968504	A	G	CDHR1				NC_000010.10:g.85968504A>G	VUS	1 lab	2fec53e644
16:31475864 ARMC5 C>T	16	31475864	31475864	C	T	ARMC5	c.1520C>T	NM_001105247.1	NP_001098717.1:p.(Pro507Leu)	NC_000016.9:g.31475864C>T	(Likely) benign	1 lab	2fecfdb19a
10:112581436 RBM20 A>T	10	112581436	112581436	A	T	RBM20	c.3059A>T	NM_001134363.3	NP_001127835.2:p.(Glu1020Val)	NC_000010.10:g.112581436A>T	(Likely) benign	1 lab	2fedf29efd
1:55509533 PCSK9 T>C	1	55509533	55509533	T	C	PCSK9	c.225T>C	NM_174936.4	NP_777596.2:p.(Pro75=)	NC_000001.10:g.55509533T>C	(Likely) benign	1 lab	10763092a5
14:23884192 MYH7 C>T	14	23884192	23884192	C	T	MYH7	c.5559+12G>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23884192C>T	(Likely) benign	1 lab	2fee528279
8:38287326 FGFR1 G>A	8	38287326	38287326	G	A	FGFR1				NC_000008.10:g.38287326G>A	(Likely) pathogenic	1 lab	32e6be3a83
1:41296961 KCNQ4 C>T	1	41296961	41296961	C	T	KCNQ4	c.1498C>T	NM_004700.3	NP_004691.2:p.(Arg500Cys)	NC_000001.10:g.41296961C>T	(Likely) benign	1 lab	2ff008f406
3:51127707 DOCK3 T>TGCCA	3	51127707	51127711	T	TGCCA	DOCK3	c.639_642dup	NM_004947.4	NP_004938.1:p.(His215AlafsTer28)	NC_000003.11:g.51127708_51127711dup	(Likely) pathogenic	1 lab	2ff0bcf107
2:167330808 SCN7A G>A	2	167330808	167330808	G	A	SCN7A	c.281C>T	NM_002976.4	NP_002967.2:p.(Ala94Val)	NC_000002.11:g.167330808G>A	VUS	1 lab	2ff17ea169
18:32471075 DTNA C>T	18	32471075	32471075	C	T	DTNA	c.*3377C>T	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32471075C>T	VUS	1 lab	32a392d0e2
2:48027830 MSH6 C>T	2	48027830	48027830	C	T	MSH6	c.2708C>T	NM_000179.2	NP_000170.1:p.(Pro903Leu)	NC_000002.11:g.48027830C>T	VUS	1 lab	2ff2c54395
6:76589536 MYO6 G>A	6	76589536	76589536	G	A	MYO6	c.2078-1G>A	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76589536G>A	(Likely) pathogenic	1 lab	2ff8c028aa
17:6329917 AIPL1 C>T	17	6329917	6329917	C	T	AIPL1	c.784+18G>A	NM_014336.3	NP_055151.3:p.?	NC_000017.10:g.6329917C>T	(Likely) benign	1 lab	2ff9fa3883
7:104703996 KMT2E G>A	7	104703996	104703996	G	A	KMT2E	c.385G>A	NM_182931.3	NP_891847.1:p.(Asp129Asn)	NC_000007.13:g.104703996G>A	VUS	1 lab	2ffa811942
20:10639274 JAG1 A>G	20	10639274	10639274	A	G	JAG1	c.536T>C	NM_000214.3	NP_000205.1:p.(Phe179Ser)	NC_000020.10:g.10639274A>G	(Likely) pathogenic	1 lab	2ffae6f24d
2:160304906 BAZ2B G>A	2	160304906	160304906	G	A	BAZ2B	c.349C>T	NM_013450.2	NP_038478.2:p.(Arg117Ter)	NC_000002.11:g.160304906G>A	(Likely) pathogenic	1 lab	2ffb5fb067
20:34025756 GDF5 A>G	20	34025756	34025756	A	G	GDF5	c.-48T>C	NM_000557.2	NP_000548.1:p.?	NC_000020.10:g.34025756A>G	(Likely) benign	1 lab	2ffd4f7ee9
2:179395254 TTN C>T	2	179395254	179395254	C	T	TTN	c.106088G>A	NM_001267550.2	NP_001254479.2:p.(Gly35363Asp)	NC_000002.11:g.179395254C>T	VUS	1 lab	2fffbfd273
12:6120823 VWF A>C	12	6120823	6120823	A	C	VWF	c.5802T>G	NM_000552.3	NP_000543.2:p.(Val1934=)	NC_000012.11:g.6120823A>C	(Likely) benign	1 lab	3008b98aee
22:19767051 TBX1 G>T	22	19767051	19767051	G	T	TBX1	c.*121G>T	NM_080646.1	NP_542377.1:p.?	NC_000022.10:g.19767051G>T	(Likely) benign	1 lab	300adb44b2
16:3779530 CREBBP C>T	16	3779530	3779530	C	T	CREBBP	c.5518G>A	NM_004380.3	NP_004371.2:p.(Val1840Met)	NC_000016.9:g.3779530C>T	(Likely) pathogenic	1 lab	300dc0f310
3:122003530 CASR C>G	3	122003530	122003530	C	G	CASR	c.2729C>G	NM_000388.4	NP_000379.3:p.(Pro910Arg)	NC_000003.11:g.122003530C>G	VUS	1 lab	300e98ce17
15:26812723 GABRB3 C>A	15	26812723	26812723	C	A	GABRB3				NC_000015.9:g.26812723C>A	VUS	1 lab	3010010590
6:161160083 PLG G>A	6	161160083	161160083	G	A	PLG	c.1878-17G>A	NM_000301.5	NP_000292.1:p.?	NC_000006.11:g.161160083G>A	(Likely) benign	1 lab	3013f5435f
9:132576390 TOR1A G>T	9	132576390	132576390	G	T	TOR1A	c.860C>A	NM_000113.2	NP_000104.1:p.(Ser287Tyr)	NC_000009.11:g.132576390G>T	(Likely) benign	1 lab	3016004d86
12:66221779 HMGA2 A>G	12	66221779	66221779	A	G	HMGA2	c.112-2A>G	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66221779A>G	(Likely) pathogenic	1 lab	301620ebc1
4:102020822 PPP3CA G>A	4	102020822	102020822	G	A	PPP3CA	c.442C>T	NM_000944.5	NP_000935.1:p.(Arg148Cys)	NC_000004.11:g.102020822G>A	VUS	1 lab	301743537c
3:150690278 CLRN1 T>C	3	150690278	150690278	T	C	CLRN1	c.218A>G	NM_001195794.1	NP_001182723.1:p.(Gln73Arg)	NC_000003.11:g.150690278T>C	VUS	1 lab	301bc9383b
13:32912277 BRCA2 C>A	13	32912277	32912277	C	A	BRCA2	c.3785C>A	NM_000059.3	NP_000050.2:p.(Ser1262Ter)	NC_000013.10:g.32912277C>A	(Likely) pathogenic	1 lab	301d36b62e
10:95790669 PLCE1 G>A	10	95790669	95790669	G	A	PLCE1	c.-135G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.95790669G>A	(Likely) benign	1 lab	30236913c5
10:92678999 ANKRD1 T>A	10	92678999	92678999	T	A	ANKRD1	c.234A>T	NM_014391.2	NP_055206.2:p.(Arg78Ser)	NC_000010.10:g.92678999T>A	VUS	1 lab	3023b3bb86
16:10274033 GRIN2A G>C	16	10274033	10274033	G	C	GRIN2A	c.236C>G	NM_000833.5	NP_000824.1:p.(Pro79Arg)	NC_000016.9:g.10274033G>C	(Likely) pathogenic	1 lab	302653a613
5:112175271 APC C>A	5	112175271	112175271	C	A	APC	c.3980C>A	NM_000038.6	NP_000029.2:p.(Ser1327Ter)	NC_000005.9:g.112175271C>A	(Likely) pathogenic	1 lab	3029ec77bd
10:88428457 LDB3 C>A	10	88428457	88428457	C	A	LDB3	c.9C>A	NM_007078.2	NP_009009.1:p.(Tyr3Ter)	NC_000010.10:g.88428457C>A	VUS	1 lab	302b47f1cb
17:29530087 NF1 G>A	17	29530087	29530087	G	A	NF1	c.1260+1584G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29530087G>A	(Likely) benign	1 lab	302b788d04
1:17350510 SDHB C>A	1	17350510	17350510	C	A	SDHB	c.600G>T	NM_003000.3	NP_002991.2:p.(Trp200Cys)	NC_000001.10:g.17350510C>A	(Likely) pathogenic	1 lab	302bf08f26
2:166231415 SCN2A G>A	2	166231415	166231415	G	A	SCN2A	c.4193G>A	NM_021007.2	NP_066287.2:p.(Trp1398Ter)	NC_000002.11:g.166231415G>A	(Likely) pathogenic	1 lab	303087c7f8
19:39001402 RYR1 G>C	19	39001402	39001402	G	C	RYR1	c.9103G>C	NM_000540.2	NP_000531.2:p.(Glu3035Gln)	NC_000019.9:g.39001402G>C	VUS	1 lab	303139bde5
12:12022435 ETV6 C>T	12	12022435	12022435	C	T	ETV6	c.541C>T	NM_001987.4	NP_001978.1:p.(Arg181Cys)	NC_000012.11:g.12022435C>T	VUS	1 lab	3032375277
7:36447465 ANLN A>G	7	36447465	36447465	A	G	ANLN	c.996A>G	NM_018685.5	NP_061155.2:p.(Pro332=)	NC_000007.13:g.36447465A>G	(Likely) benign	1 lab	0460810796
1:43814532 MPL G>C	1	43814532	43814532	G	C	MPL	c.1327G>C	NM_005373.3	NP_005364.1:p.(Gly443Arg)	NC_000001.10:g.43814532G>C	VUS	1 lab	303bf8e25f
11:3688896 CHRNA10 C>G	11	3688896	3688896	C	G	CHRNA10	c.461G>C	NM_020402.2	NP_065135.2:p.(Cys154Ser)	NC_000011.9:g.3688896C>G	VUS	1 lab	303e466ddb
3:164710040 SI G>A	3	164710040	164710040	G	A	SI	c.4927-19C>T	NM_001041.3	NP_001032.2:p.?	NC_000003.11:g.164710040G>A	(Likely) benign	1 lab	304093b2bb
7:91622234 AKAP9 A>G	7	91622234	91622234	A	G	AKAP9	c.441A>G	NM_005751.4	NP_005742.4:p.(Glu147=)	NC_000007.13:g.91622234A>G	(Likely) benign	1 lab	304257acb7
1:201342310 TNNT2 C>T	1	201342310	201342310	C	T	TNNT2	c.41+32G>A	NM_001001430.1	NP_001001430.1:p.?	NC_000001.10:g.201342310C>T	(Likely) benign	1 lab	3043fea6a0
9:95481272 BICD2 A>G	9	95481272	95481272	A	G	BICD2	c.1655T>C	NM_001003800.1	NP_001003800.1:p.(Val552Ala)	NC_000009.11:g.95481272A>G	VUS	1 lab	3044331c30
3:178951957 PIK3CA G>A	3	178951957	178951957	G	A	PIK3CA				NC_000003.11:g.178951957G>A	VUS	1 lab	3046565431
2:179517061 TTN G>C	2	179517061	179517061	G	C	TTN	c.39141C>G	NM_001267550.2	NP_001254479.2:p.(Pro13047=)	NC_000002.11:g.179517061G>C	(Likely) benign	1 lab	3048223223
11:108201040 ATM T>C	11	108201040	108201040	T	C	ATM	c.7407T>C	NM_000051.4	NP_000042.3:p.(Asn2469=)	NC_000011.9:g.108201040T>C	(Likely) benign	1 lab	30483d93d2
16:56920915 SLC12A3 CACCAAGT>C	16	56920915	56920922	CACCAAGT	C	SLC12A3	c.2089_2095del	NM_000339.2	NP_000330.2:p.(Thr697GlyfsTer2)	NC_000016.9:g.56920916_56920922del	(Likely) pathogenic	1 lab	3048994309
12:48379739 COL2A1 C>T	12	48379739	48379739	C	T	COL2A1	c.1537G>A	NM_001844.4	NP_001835.3:p.(Gly513Ser)	NC_000012.11:g.48379739C>T	(Likely) pathogenic	1 lab	3048f0f158
17:42992603 GFAP G>C	17	42992603	42992603	G	C	GFAP	c.252C>G	NM_002055.5	NP_002046.1:p.(Ile84Met)	NC_000017.10:g.42992603G>C	(Likely) pathogenic	1 lab	3053970c3b
17:29528041 NF1 T>A	17	29528041	29528041	T	A	NF1	c.1063-14T>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29528041T>A	(Likely) pathogenic	1 lab	30548ba581
6:157406024 ARID1B C>G	6	157406024	157406024	C	G	ARID1B	c.2266C>G	NM_020732.3	NP_065783.3:p.(Pro756Ala)	NC_000006.11:g.157406024C>G	VUS	1 lab	3055c2f785
7:151879408 KMT2C A>C	7	151879408	151879408	A	C	KMT2C	c.5537T>G	NM_170606.3	NP_733751.2:p.(Val1846Gly)	NC_000007.13:g.151879408A>C	VUS	1 lab	305706ae0d
16:89813080 FANCA C>T	16	89813080	89813080	C	T	FANCA	c.3425G>A	NM_000135.2	NP_000126.2:p.(Cys1142Tyr)	NC_000016.9:g.89813080C>T	VUS	1 lab	305b157682
2:228119432 COL4A3 G>A	2	228119432	228119432	G	A	COL4A3	c.888+1G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228119432G>A	(Likely) pathogenic	1 lab	305cf1f81f
10:88478574 LDB3 A>C	10	88478574	88478574	A	C	LDB3	c.1963A>C	NM_001171610.1	NP_001165081.1:p.(Met655Leu)	NC_000010.10:g.88478574A>C	VUS	1 lab	3063404cfc
X:107815022 COL4A5 C>A	X	107815022	107815022	C	A	COL4A5	c.439-19C>A	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107815022C>A	(Likely) benign	1 lab	3065adeef6
16:16251519 ABCC6 CCTT>C	16	16251519	16251524	CCTT	C	ABCC6	c.3880_3882del	NM_001171.5	NP_001162.4:p.(Lys1294del)	NC_000016.9:g.16251522_16251524del	VUS	1 lab	3065d7f566
2:48026496 MSH6 TTC>T	2	48026496	48026499	TTC	T	MSH6	c.1376_1377del	NM_000179.3	NP_000170.1:p.(Ser459TrpfsTer4)	NC_000002.11:g.48026498_48026499del	(Likely) pathogenic	1 lab	3066e77fb7
2:179452966 TTN A>G	2	179452966	179452966	A	G	TTN	c.63188-20T>C	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179452966A>G	(Likely) benign	1 lab	306b07e647
16:2131800 TSC2 G>T	16	2131800	2131800	G	T	TSC2	c.3814+1G>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2131800G>T	(Likely) pathogenic	1 lab	306c54ce49
4:648677 PDE6B CG>C	4	648677	648678	CG	C	PDE6B	c.992+1del	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.648678del	(Likely) pathogenic	1 lab	306e595847
12:49579331 TUBA1A G>C	12	49579331	49579331	G	C	TUBA1A				NC_000012.11:g.49579331G>C	VUS	1 lab	306eb95c82
2:97373004 LMAN2L G>A	2	97373004	97373004	G	A	LMAN2L	c.1069C>T	NM_001142292.1	NP_001135764.1:p.(Arg357Cys)	NC_000002.11:g.97373004G>A	VUS	1 lab	306f942e90
10:89720880 MISSING G>A	10	89720880	89720880	G	A	MISSING				NC_000010.10:g.89720880G>A	VUS	1 lab	30708b4554
10:103531279 FGF8 G>A	10	103531279	103531279	G	A	FGF8	c.385C>T	NM_033163.3	NP_149353.1:p.(Arg129Ter)	NC_000010.10:g.103531279G>A	(Likely) pathogenic	1 lab	3077515732
10:73376960 CDH23 A>G	10	73376960	73376960	A	G	CDH23	c.946-2A>G	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73376960A>G	(Likely) pathogenic	1 lab	307916c35c
12:32908518 YARS2 G>A	12	32908518	32908518	G	A	YARS2				NC_000012.11:g.32908518G>A	(Likely) benign	1 lab	307a90736b
12:49435318 KMT2D G>A	12	49435318	49435318	G	A	KMT2D	c.6235C>T	NM_003482.4	NP_003473.3:p.(Gln2079Ter)	NC_000012.11:g.49435318G>A	(Likely) pathogenic	1 lab	307a9607b7
10:73405615 CDH23 T>C	10	73405615	73405615	T	C	CDH23	c.1168T>C	NM_022124.5	NP_071407.4:p.(Leu390=)	NC_000010.10:g.73405615T>C	VUS	1 lab	307d3aa457
19:38991276 RYR1 C>T	19	38991276	38991276	C	T	RYR1	c.7354C>T	NM_000540.2	NP_000531.2:p.(Arg2452Trp)	NC_000019.9:g.38991276C>T	(Likely) pathogenic	1 lab	307d4227d9
2:162273598 TBR1 T>A	2	162273598	162273598	T	A	TBR1	c.677T>A	NM_006593.4	NP_006584.1:p.(Ile226Asn)	NC_000002.11:g.162273598T>A	(Likely) pathogenic	1 lab	307e578fc0
1:224619293 WDR26 T>C	1	224619293	224619293	T	C	WDR26	c.823-10A>G	NM_001379403.1	NP_001366332.1:p.?	NC_000001.10:g.224619293T>C	(Likely) pathogenic	1 lab	307e9fabb2
19:11135005 SMARCA4 A>G	19	11135005	11135005	A	G	SMARCA4	c.2974-2A>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11135005A>G	(Likely) pathogenic	1 lab	307f7bcd54
19:38937350 RYR1 G>C	19	38937350	38937350	G	C	RYR1	c.742G>C	NM_000540.2	NP_000531.2:p.(Gly248Arg)	NC_000019.9:g.38937350G>C	(Likely) pathogenic	1 lab	30820edeea
10:74234860 MICU1 C>A	10	74234860	74234860	C	A	MICU1	c.937G>T	NM_006077.3	NP_006068.2:p.(Glu313Ter)	NC_000010.10:g.74234860C>A	(Likely) pathogenic	1 lab	3082a690cc
3:9984855 CRELD1 C>T	3	9984855	9984855	C	T	CRELD1	c.912C>T	NM_001031717.3	NP_001026887.1:p.(Leu304=)	NC_000003.11:g.9984855C>T	(Likely) benign	1 lab	3082a7c94a
5:251221 SDHA G>C	5	251221	251221	G	C	SDHA	c.1663+3G>C	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.251221G>C	(Likely) pathogenic	1 lab	308584dc97
11:108139120 ATM G>A	11	108139120	108139120	G	A	ATM	c.2639-17G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108139120G>A	(Likely) benign	1 lab	3085c36087
2:219922230 IHH G>A	2	219922230	219922230	G	A	IHH	c.502C>T	NM_002181.4	NP_002172.2:p.(Arg168Cys)	NC_000002.11:g.219922230G>A	VUS	1 lab	3085e0da2c
X:67273641 OPHN1 T>C	X	67273641	67273641	T	C	OPHN1	c.2170A>G	NM_002547.2	NP_002538.1:p.(Ser724Gly)	NC_000023.10:g.67273641T>C	VUS	1 lab	30865e7a6a
12:57977040 KIF5A C>A	12	57977040	57977040	C	A	KIF5A	c.*36+42C>A	NM_004984.2	NP_004975.2:p.?	NC_000012.11:g.57977040C>A	(Likely) benign	1 lab	3086e315a9
14:88407754 GALC C>A	14	88407754	88407754	C	A	GALC	c.1819G>T	NM_000153.4	NP_000144.2:p.(Val607Phe)	NC_000014.8:g.88407754C>A	VUS	1 lab	308995ae9f
19:35530019 SCN1B A>G	19	35530019	35530019	A	G	SCN1B	c.449-2A>G	NM_001037.4	NP_001028.1:p.?	NC_000019.9:g.35530019A>G	(Likely) pathogenic	1 lab	308a882817
20:42744776 JPH2 G>A	20	42744776	42744776	G	A	JPH2	c.1539C>T	NM_020433.4	NP_065166.2:p.(Asn513=)	NC_000020.10:g.42744776G>A	(Likely) benign	1 lab	308bc9fea1
16:69680405 NFAT5 A>G	16	69680405	69680405	A	G	NFAT5	c.-91-15A>G	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69680405A>G	(Likely) benign	1 lab	0463396c3c
17:19246826 B9D1 C>A	17	19246826	19246826	C	A	B9D1	c.510G>T	NM_001321214.1	NP_001308143.1:p.(Trp170Cys)	NC_000017.10:g.19246826C>A	VUS	1 lab	3096734166
2:179395959 TTN G>A	2	179395959	179395959	G	A	TTN				NC_000002.11:g.179395959G>A	(Likely) benign	1 lab	37a67f0b56
X:107909402 COL4A5 A>G	X	107909402	107909402	A	G	COL4A5	c.3455-324A>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107909402A>G	(Likely) pathogenic	1 lab	309757bc7f
11:120979969 TECTA C>T	11	120979969	120979969	C	T	TECTA	c.248C>T	NM_005422.2	NP_005413.2:p.(Thr83Met)	NC_000011.9:g.120979969C>T	VUS	1 lab	309ae8d197
7:151483896 PRKAG2 C>G	7	151483896	151483896	C	G	PRKAG2	c.115-269G>C	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151483896C>G	(Likely) benign	1 lab	30a0bb5039
6:121768286 GJA1 A>G	6	121768286	121768286	A	G	GJA1	c.293A>G	NM_000165.4	NP_000156.1:p.(Tyr98Cys)	NC_000006.11:g.121768286A>G	(Likely) pathogenic	1 lab	30a4054e32
1:161183265 NDUFS2 G>A	1	161183265	161183265	G	A	NDUFS2	c.1212G>A	NM_004550.4	NP_004541.1:p.(Lys404=)	NC_000001.10:g.161183265G>A	(Likely) benign	1 lab	30a6249885
2:21266728 APOB G>C	2	21266728	21266728	G	C	APOB	c.82+8C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266728G>C	(Likely) benign	1 lab	10b3ccc02a
16:16295970 ABCC6 A>C	16	16295970	16295970	A	C	ABCC6	c.1064T>G	NM_001171.6	NP_001162.5:p.(Leu355Arg)	NC_000016.9:g.16295970A>C	(Likely) pathogenic	1 lab	30a6528eb2
1:155255006 HCN3 G>A	1	155255006	155255006	G	A	HCN3	c.1140G>A	NM_020897.2	NP_065948.1:p.(Thr380=)	NC_000001.10:g.155255006G>A	(Likely) benign	1 lab	30a7227d6d
2:48025782 MSH6 A>C	2	48025782	48025782	A	C	MSH6	c.660A>C	NM_000179.3	NP_000170.1:p.(Glu220Asp)	NC_000002.11:g.48025782A>C	(Likely) benign	1 lab	30ac219005
17:27861321 TAOK1 A>G	17	27861321	27861321	A	G	TAOK1	c.2544+3A>G	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27861321A>G	(Likely) pathogenic	1 lab	30ae841cfb
10:89624271 PTEN A>C	10	89624271	89624271	A	C	PTEN	c.45A>C	NM_000314.4	NP_000305.3:p.(Arg15Ser)	NC_000010.10:g.89624271A>C	(Likely) pathogenic	1 lab	30aea7f870
2:179648922 TTN C>A	2	179648922	179648922	C	A	TTN	c.2650G>T	NM_001267550.2	NP_001254479.2:p.(Ala884Ser)	NC_000002.11:g.179648922C>A	(Likely) benign	1 lab	30b5a10d75
15:51741306 DMXL2 C>T	15	51741306	51741306	C	T	DMXL2	c.8989G>A	NM_001174116.3	NP_001167587.1:p.(Gly2997Arg)	NC_000015.9:g.51741306C>T	VUS	1 lab	30b7bebd92
2:145187584 ZEB2 T>C	2	145187584	145187584	T	C	ZEB2				NC_000002.11:g.145187584T>C	VUS	1 lab	30b9c9977b
11:2790074 KCNQ1 G>T	11	2790074	2790074	G	T	KCNQ1	c.1515G>T	NM_000218.2	NP_000209.2:p.(Gln505His)	NC_000011.9:g.2790074G>T	(Likely) benign	1 lab	30bd1897ce
4:120194799 USP53 G>A	4	120194799	120194799	G	A	USP53	c.2187G>A	NM_019050.2	NP_061923.2:p.(Thr729=)	NC_000004.11:g.120194799G>A	(Likely) benign	1 lab	30c53910c7
17:70120040 SOX9 C>T	17	70120040	70120040	C	T	SOX9	c.1042C>T	NM_000346.4	NP_000337.1:p.(Gln348Ter)	NC_000017.10:g.70120040C>T	(Likely) pathogenic	1 lab	30c8ac518c
2:149243390 MBD5 G>A	2	149243390	149243390	G	A	MBD5	c.2925G>A	NM_018328.4	NP_060798.2:p.(Met975Ile)	NC_000002.11:g.149243390G>A	VUS	1 lab	30cb7367c8
19:36342356 NPHS1 T>A	19	36342356	36342356	T	A	NPHS1	c.274+3A>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36342356T>A	VUS	1 lab	30d423ce71
22:29115437 CHEK2 G>A	22	29115437	29115437	G	A	CHEK2	c.629C>T	NM_007194.4	NP_009125.1:p.(Ser210Leu)	NC_000022.10:g.29115437G>A	VUS	1 lab	30d537a9a7
10:89717697 PTEN T>C	10	89717697	89717697	T	C	PTEN	c.722T>C	NM_000314.4	NP_000305.3:p.(Phe241Ser)	NC_000010.10:g.89717697T>C	(Likely) pathogenic	1 lab	30d5cd57ce
10:89712021 PTEN G>A	10	89712021	89712021	G	A	PTEN	c.634+5G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89712021G>A	(Likely) pathogenic	1 lab	30db091832
22:50555644 MOV10L1 C>T	22	50555644	50555644	C	T	MOV10L1	c.1318C>T	NM_018995.3	NP_061868.1:p.(Arg440Ter)	NC_000022.10:g.50555644C>T	(Likely) pathogenic	1 lab	30dcd76848
X:153171297 AVPR2 C>T	X	153171297	153171297	C	T	AVPR2	c.337C>T	NM_000054.4	NP_000045.1:p.(Arg113Trp)	NC_000023.10:g.153171297C>T	(Likely) pathogenic	1 lab	30ddd38396
10:27326213 ANKRD26 G>A	10	27326213	27326213	G	A	ANKRD26	c.2599C>T	NM_014915.3	NP_055730.2:p.(Arg867Ter)	NC_000010.10:g.27326213G>A	(Likely) pathogenic	1 lab	30dfb11f82
8:143695144 MISSING G>A	8	143695144	143695144	G	A	MISSING				NC_000008.10:g.143695144G>A	(Likely) benign	1 lab	30e44cde7a
15:85401538 ALPK3 C>T	15	85401538	85401538	C	T	ALPK3	c.3569C>T	NM_020778.5	NP_065829.4:p.(Thr1190Met)	NC_000015.9:g.85401538C>T	(Likely) benign	1 lab	30e6b68e10
20:42744872 JPH2 C>T	20	42744872	42744872	C	T	JPH2	c.1443G>A	NM_020433.4	NP_065166.2:p.(Glu481=)	NC_000020.10:g.42744872C>T	(Likely) benign	1 lab	30e9b14783
11:65307551 LTBP3 G>A	11	65307551	65307551	G	A	LTBP3	c.3318C>T	NM_001130144.2	NP_001123616.1:p.(Cys1106=)	NC_000011.9:g.65307551G>A	VUS	1 lab	30ec0fb87e
15:65282191 SPG21 G>A	15	65282191	65282191	G	A	SPG21	c.-213C>T	NM_016630.3	NP_057714.1:p.?	NC_000015.9:g.65282191G>A	(Likely) benign	1 lab	30ee112c98
X:148568495 IDS G>A	X	148568495	148568495	G	A	IDS	c.1141C>T	NM_000202.5	NP_000193.1:p.(Leu381Phe)	NC_000023.10:g.148568495G>A	(Likely) benign	1 lab	30ee45203a
17:41226426 BRCA1 C>A	17	41226426	41226426	C	A	BRCA1	c.4597G>T	NM_007294.3	NP_009225.1:p.(Asp1533Tyr)	NC_000017.10:g.41226426C>A	VUS	1 lab	30f2c7e4be
19:6677912 C3 A>G	19	6677912	6677912	A	G	C3	c.4973T>C	NM_000064.3	NP_000055.2:p.(Val1658Ala)	NC_000019.9:g.6677912A>G	(Likely) pathogenic	1 lab	30f2ed4cbb
6:7569536 DSP C>T	6	7569536	7569536	C	T	DSP	c.1537C>T	NM_004415.4	NP_004406.2:p.(Pro513Ser)	NC_000006.11:g.7569536C>T	VUS	1 lab	30f4e9963b
14:36987027 NKX2-1 C>G	14	36987027	36987027	C	G	NKX2-1	c.662G>C	NM_001079668.3	NP_001073136.1:p.(Arg221Pro)	NC_000014.8:g.36987027C>G	VUS	1 lab	30f58a6945
4:110687890 CFI G>C	4	110687890	110687890	G	C	CFI	c.148C>G	NM_000204.4	NP_000195.2:p.(Pro50Ala)	NC_000004.11:g.110687890G>C	VUS	1 lab	3100bf6143
19:4117482 MAP2K2 C>T	19	4117482	4117482	C	T	MAP2K2	c.238G>A	NM_030662.3	NP_109587.1:p.(Ala80Thr)	NC_000019.9:g.4117482C>T	VUS	1 lab	3103155d7f
2:170031876 LRP2 C>T	2	170031876	170031876	C	T	LRP2	c.10595G>A	NM_004525.2	NP_004516.2:p.(Cys3532Tyr)	NC_000002.11:g.170031876C>T	VUS	1 lab	31087f328c
X:153418469 OPN1LW T>C	X	153418469	153418469	T	C	OPN1LW	c.466T>C	NM_020061.6	NP_064445.2:p.(Cys156Arg)	NC_000023.10:g.153418469T>C	VUS	1 lab	3110343e22
14:24727508 TGM1 G>A	14	24727508	24727508	G	A	TGM1	c.1385C>T	NM_000359.2	NP_000350.1:p.(Pro462Leu)	NC_000014.8:g.24727508G>A	(Likely) pathogenic	1 lab	311107b3c9
11:64950970 CAPN1 C>T	11	64950970	64950970	C	T	CAPN1	c.363C>T	NM_005186.3	NP_005177.2:p.(Ile121=)	NC_000011.9:g.64950970C>T	(Likely) benign	1 lab	31135d5596
2:241658494 KIF1A C>T	2	241658494	241658494	C	T	KIF1A	c.5143G>A	NM_001244008.1	NP_001230937.1:p.(Val1715Met)	NC_000002.11:g.241658494C>T	VUS	1 lab	31141223fd
17:40379604 STAT5B C>G	17	40379604	40379604	C	G	STAT5B	c.228G>C	NM_012448.3	NP_036580.2:p.(Val76=)	NC_000017.10:g.40379604C>G	(Likely) benign	1 lab	0467dc8152
16:56938314 SLC12A3 G>A	16	56938314	56938314	G	A	SLC12A3	c.2891G>A	NM_000339.2	NP_000330.2:p.(Arg964Gln)	NC_000016.9:g.56938314G>A	(Likely) pathogenic	1 lab	31176997aa
6:31636401 CSNK2B C>A	6	31636401	31636401	C	A	CSNK2B	c.261C>A	NM_001320.7	NP_001311.3:p.(Tyr87Ter)	NC_000006.11:g.31636401C>A	(Likely) pathogenic	1 lab	31194baf27
3:38496065 ACVR2B C>T	3	38496065	38496065	C	T	ACVR2B	c.52+200C>T	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38496065C>T	(Likely) benign	1 lab	311c4467a3
X:138623244 F9 A>G	X	138623244	138623244	A	G	F9	c.287A>G	NM_000133.4	NP_000124.1:p.(Gln96Arg)	NC_000023.10:g.138623244A>G	(Likely) pathogenic	1 lab	31214e7de0
5:112175480 APC G>T	5	112175480	112175480	G	T	APC	c.4189G>T	NM_000038.5	NP_000029.2:p.(Glu1397Ter)	NC_000005.9:g.112175480G>T	(Likely) pathogenic	1 lab	3128b164b6
19:1218522 STK11 C>T	19	1218522	1218522	C	T	STK11	c.374+23C>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1218522C>T	(Likely) benign	1 lab	3129cdacc0
14:23871824 MYH6 G>A	14	23871824	23871824	G	A	MYH6	c.1003-13C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23871824G>A	(Likely) benign	1 lab	312aa73b49
5:112102974 APC ATCAAG>A	5	112102974	112102979	ATCAAG	A	APC	c.310_314del	NM_000038.6	NP_000029.2:p.(Ser104ProfsTer33)	NC_000005.9:g.112102975_112102979del	(Likely) pathogenic	1 lab	312f6f8202
3:38987015 SCN11A C>A	3	38987015	38987015	C	A	SCN11A	c.387-12G>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38987015C>A	(Likely) benign	1 lab	31330ce4fd
4:48572839 FRYL C>A	4	48572839	48572839	C	A	FRYL	c.2996+5G>T	NM_015030.2	NP_055845.1:p.?	NC_000004.11:g.48572839C>A	(Likely) pathogenic	1 lab	313494e911
15:27018779 GABRB3 G>T	15	27018779	27018779	G	T	GABRB3	c.80+13C>A	NM_021912.5	NP_068712.1:p.?	NC_000015.9:g.27018779G>T	(Likely) benign	1 lab	04680fedf0
19:47423532 ARHGAP35 C>T	19	47423532	47423532	C	T	ARHGAP35	c.1600C>T	NM_004491.5	NP_004482.4:p.(Gln534Ter)	NC_000019.9:g.47423532C>T	(Likely) pathogenic	1 lab	313aafab92
2:170025083 LRP2 A>G	2	170025083	170025083	A	G	LRP2	c.11601T>C	NM_004525.2	NP_004516.2:p.(Cys3867=)	NC_000002.11:g.170025083A>G	(Likely) benign	1 lab	313abec21b
2:128183784 PROC G>A	2	128183784	128183784	G	A	PROC	c.659G>A	NM_000312.3	NP_000303.1:p.(Arg220Gln)	NC_000002.11:g.128183784G>A	(Likely) pathogenic	1 lab	313c894542
10:88476226 LDB3 A>C	10	88476226	88476226	A	C	LDB3	c.1374A>C	NM_007078.2	NP_009009.1:p.(Ala458=)	NC_000010.10:g.88476226A>C	(Likely) benign	1 lab	313d40f7e3
6:7583150 DSP A>G	6	7583150	7583150	A	G	DSP	c.5655A>G	NM_004415.3	NP_004406.2:p.(Arg1885=)	NC_000006.11:g.7583150A>G	(Likely) benign	1 lab	313d5b3474
17:10433033 MYH2 C>T	17	10433033	10433033	C	T	MYH2	c.2965G>A	NM_017534.5	NP_060004.3:p.(Ala989Thr)	NC_000017.10:g.10433033C>T	VUS	1 lab	313ed39a4b
16:2140953 PKD1 G>A	16	2140953	2140953	G	A	PKD1	c.11935C>T	NM_001009944.2	NP_001009944.2:p.(Gln3979Ter)	NC_000016.9:g.2140953G>A	(Likely) pathogenic	1 lab	314308b893
7:91691724 AKAP9 G>A	7	91691724	91691724	G	A	AKAP9	c.5901G>A	NM_005751.4	NP_005742.4:p.(Gln1967=)	NC_000007.13:g.91691724G>A	(Likely) benign	1 lab	3145b6d152
2:179421571 TTN T>C	2	179421571	179421571	T	C	TTN	c.88306+4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179421571T>C	(Likely) benign	1 lab	3148b329ce
8:90983459 NBN C>T	8	90983459	90983459	C	T	NBN	c.644G>A	NM_002485.5	NP_002476.2:p.(Arg215Gln)	NC_000008.10:g.90983459C>T	VUS	1 lab	31491432a2
1:16380243 CLCNKB A>G	1	16380243	16380243	A	G	CLCNKB				NC_000001.10:g.16380243A>G	(Likely) benign	1 lab	314a5dc2cc
5:89986763 ADGRV1 C>T	5	89986763	89986763	C	T	ADGRV1	c.6856C>T	NM_032119.3	NP_115495.3:p.(Arg2286Ter)	NC_000005.9:g.89986763C>T	(Likely) pathogenic	1 lab	3169ae046c
17:79479026 ACTG1 G>A	17	79479026	79479026	G	A	ACTG1	c.266C>T	NM_001614.3	NP_001605.1:p.(Thr89Ile)	NC_000017.10:g.79479026G>A	(Likely) pathogenic	1 lab	314b5dd164
8:30989910 WRN C>G	8	30989910	30989910	C	G	WRN	c.2855C>G	NM_000553.4	NP_000544.2:p.(Ser952Ter)	NC_000008.10:g.30989910C>G	(Likely) pathogenic	1 lab	314dc5d323
12:133202428 POLE G>A	12	133202428	133202428	G	A	POLE	c.6532-72C>T	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133202428G>A	(Likely) benign	1 lab	31500ee42e
7:143036612 CLCN1 T>C	7	143036612	143036612	T	C	CLCN1	c.1480T>C	NM_000083.2	NP_000074.2:p.(Phe494Leu)	NC_000007.13:g.143036612T>C	VUS	1 lab	3150ed781c
12:15739863 PTPRO C>T	12	15739863	15739863	C	T	PTPRO	c.3288C>T	NM_030667.2	NP_109592.1:p.(Asn1096=)	NC_000012.11:g.15739863C>T	(Likely) benign	1 lab	3153460189
13:32953882 BRCA2 A>G	13	32953882	32953882	A	G	BRCA2	c.8954-5A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953882A>G	(Likely) pathogenic	1 lab	31536e10e4
7:33136124 RP9 G>A	7	33136124	33136124	G	A	RP9	c.448C>T	NM_203288.1	NP_976033.1:p.(Arg150Ter)	NC_000007.13:g.33136124G>A	VUS	1 lab	315377b9fa
2:46986359 SOCS5 G>A	2	46986359	46986359	G	A	SOCS5	c.690G>A	NM_144949.3	NP_659198.1:p.(Trp230Ter)	NC_000002.11:g.46986359G>A	VUS	1 lab	3156f9a0d6
12:2558123 CACNA1C T>G	12	2558123	2558123	T	G	CACNA1C	c.478-19T>G	NM_000719.6	NP_000710.5:p.?	NC_000012.11:g.2558123T>G	(Likely) benign	1 lab	315b148ed1
12:2224606 CACNA1C C>T	12	2224606	2224606	C	T	CACNA1C	c.266C>T	NM_199460.3	NP_955630.3:p.(Pro89Leu)	NC_000012.11:g.2224606C>T	(Likely) benign	1 lab	315bedd4b6
22:38120424 TRIOBP C>T	22	38120424	38120424	C	T	TRIOBP	c.1861C>T	NM_001039141.2	NP_001034230.1:p.(Arg621Ter)	NC_000022.10:g.38120424C>T	(Likely) pathogenic	1 lab	316117e6c7
10:76732350 KAT6B T>G	10	76732350	76732350	T	G	KAT6B	c.1014T>G	NM_012330.4	NP_036462.2:p.(Tyr338Ter)	NC_000010.10:g.76732350T>G	(Likely) pathogenic	1 lab	3161fea020
13:32912401 BRCA2 C>T	13	32912401	32912401	C	T	BRCA2	c.3909C>T	NM_000059.3	NP_000050.2:p.(Gly1303=)	NC_000013.10:g.32912401C>T	(Likely) benign	1 lab	3164503239
12:49578992 TUBA1A T>A	12	49578992	49578992	T	A	TUBA1A				NC_000012.11:g.49578992T>A	(Likely) pathogenic	1 lab	3169a41c12
6:7583900 DSP A>C	6	7583900	7583900	A	C	DSP	c.6405A>C	NM_004415.2	NP_004406.2:p.(Val2135=)	NC_000006.11:g.7583900A>C	(Likely) benign	1 lab	046ae4ea20
10:104592249 CYP17A1 A>C	10	104592249	104592249	A	C	CYP17A1	c.1139+19T>G	NM_000102.3	NP_000093.1:p.?	NC_000010.10:g.104592249A>C	(Likely) benign	1 lab	316bf8bf86
4:3465073 DOK7 G>T	4	3465073	3465073	G	T	DOK7	c.-30G>T	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3465073G>T	(Likely) benign	1 lab	33e7164623
16:3820762 CREBBP G>T	16	3820762	3820762	G	T	CREBBP	c.2689C>A	NM_004380.2	NP_004371.2:p.(Gln897Lys)	NC_000016.9:g.3820762G>T	VUS	1 lab	3175fd4c96
13:32914401 BRCA2 C>A	13	32914401	32914401	C	A	BRCA2	c.5909C>A	NM_000059.3	NP_000050.2:p.(Ser1970Ter)	NC_000013.10:g.32914401C>A	(Likely) pathogenic	1 lab	3176a2b756
1:94526095 ABCA4 T>C	1	94526095	94526095	T	C	ABCA4	c.2158A>G	NM_000350.3	NP_000341.2:p.(Met720Val)	NC_000001.10:g.94526095T>C	(Likely) benign	1 lab	31773e3f80
1:44680468 DMAP1 G>C	1	44680468	44680468	G	C	DMAP1	c.291G>C	NM_001034023.1	NP_001029195.1:p.(Trp97Cys)	NC_000001.10:g.44680468G>C	VUS	1 lab	3178dd80e3
2:220283235 DES C>T	2	220283235	220283235	C	T	DES	c.51C>T	NM_001927.3	NP_001918.3:p.(Thr17=)	NC_000002.11:g.220283235C>T	(Likely) benign	1 lab	317b54f069
16:2230574 CASKIN1 C>T	16	2230574	2230574	C	T	CASKIN1	c.2795G>A	NM_020764.4	NP_065815.1:p.(Arg932His)	NC_000016.9:g.2230574C>T	VUS	1 lab	317c815444
12:3782630 CRACR2A A>T	12	3782630	3782630	A	T	CRACR2A	c.653T>A	NM_001144958.2	NP_001138430.1:p.(Leu218Gln)	NC_000012.11:g.3782630A>T	(Likely) benign	1 lab	046eddbaf8
4:186435494 PDLIM3 G>GA	4	186435494	186435495	G	GA	PDLIM3	c.331-4_331-3insT	NM_014476.5	NP_055291.2:p.?	NC_000004.11:g.186435494_186435495insA	(Likely) benign	1 lab	317f461336
12:101988774 MYBPC1 G>T	12	101988774	101988774	G	T	MYBPC1	c.-75G>T	NM_002465.3	NP_002456.2:p.?	NC_000012.11:g.101988774G>T	(Likely) benign	1 lab	318248330c
1:9778878 PIK3CD G>A	1	9778878	9778878	G	A	PIK3CD	c.1147G>A	NM_005026.5	NP_005017.3:p.(Asp383Asn)	NC_000001.10:g.9778878G>A	VUS	1 lab	3182ef79fe
20:10621923 JAG1 G>GT	20	10621923	10621924	G	GT	JAG1	c.2917-32dup	NM_000214.2	NP_000205.1:p.?	NC_000020.10:g.10621924dup	(Likely) benign	1 lab	31848079da
3:193374964 OPA1 T>C	3	193374964	193374964	T	C	OPA1	c.2274T>C	NM_130837.2	NP_570850.2:p.(Ala758=)	NC_000003.11:g.193374964T>C	(Likely) benign	1 lab	31852ce08e
2:167263085 SCN7A G>A	2	167263085	167263085	G	A	SCN7A	c.4054C>T	NM_002976.4	NP_002967.2:p.(Arg1352Trp)	NC_000002.11:g.167263085G>A	VUS	1 lab	3185f791fa
1:94528679 ABCA4 C>G	1	94528679	94528679	C	G	ABCA4	c.1749G>C	NM_000350.2	NP_000341.2:p.(Lys583Asn)	NC_000001.10:g.94528679C>G	(Likely) pathogenic	1 lab	3190aaa4ee
4:110897252 EGF C>G	4	110897252	110897252	C	G	EGF	c.1914C>G	NM_001963.6	NP_001954.2:p.(Ser638Arg)	NC_000004.11:g.110897252C>G	(Likely) benign	1 lab	04733c3c85
7:148080943 CNTNAP2 C>G	7	148080943	148080943	C	G	CNTNAP2	c.3678C>G	NM_014141.6	NP_054860.1:p.(Ser1226=)	NC_000007.13:g.148080943C>G	(Likely) benign	1 lab	04737975b9
2:179636071 TTN C>T	2	179636071	179636071	C	T	TTN	c.7983G>A	NM_001267550.2	NP_001254479.2:p.(Leu2661=)	NC_000002.11:g.179636071C>T	(Likely) benign	1 lab	3195dc47f1
7:107314608 SLC26A4 G>A	7	107314608	107314608	G	A	SLC26A4	c.416-1G>A	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107314608G>A	(Likely) pathogenic	1 lab	31976ce890
10:89717715 PTEN T>TA	10	89717715	89717716	T	TA	PTEN	c.741dup	NM_000314.4	NP_000305.3:p.(Pro248ThrfsTer5)	NC_000010.10:g.89717716dup	(Likely) pathogenic	1 lab	3197b8410e
22:36690217 MYH9 T>C	22	36690217	36690217	T	C	MYH9	c.3758A>G	NM_002473.4	NP_002464.1:p.(Gln1253Arg)	NC_000022.10:g.36690217T>C	(Likely) benign	1 lab	3197ea1772
15:35084407 ACTC1 G>C	15	35084407	35084407	G	C	ACTC1	c.692C>G	NM_005159.5	NP_005150.1:p.(Thr231Arg)	NC_000015.9:g.35084407G>C	(Likely) pathogenic	1 lab	319882713d
13:32931904 BRCA2 A>G	13	32931904	32931904	A	G	BRCA2	c.7643A>G	NM_000059.3	NP_000050.2:p.(His2548Arg)	NC_000013.10:g.32931904A>G	(Likely) benign	1 lab	319a8ba33d
9:126133547 CRB2 T>C	9	126133547	126133547	T	C	CRB2	c.2126T>C	NM_173689.6	NP_775960.4:p.(Val709Ala)	NC_000009.11:g.126133547T>C	(Likely) benign	1 lab	319ab4c9b8
13:60384952 DIAPH3 T>G	13	60384952	60384952	T	G	DIAPH3	c.3133A>C	NM_001042517.1	NP_001035982.1:p.(Lys1045Gln)	NC_000013.10:g.60384952T>G	VUS	1 lab	319d33f022
10:123263486 FGFR2 A>C	10	123263486	123263486	A	C	FGFR2	c.1288-31T>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123263486A>C	(Likely) benign	1 lab	319db849d1
12:48381468 COL2A1 G>A	12	48381468	48381468	G	A	COL2A1	c.1147C>T	NM_001844.5	NP_001835.3:p.(Arg383Cys)	NC_000012.11:g.48381468G>A	VUS	1 lab	319f5caf13
3:37053533 MLH1 T>C	3	37053533	37053533	T	C	MLH1	c.620T>C	NM_000249.3	NP_000240.1:p.(Leu207Pro)	NC_000003.11:g.37053533T>C	VUS	1 lab	31a5904361
X:70354944 MED12 G>T	X	70354944	70354944	G	T	MED12	c.4866G>T	NM_005120.2	NP_005111.2:p.(Lys1622Asn)	NC_000023.10:g.70354944G>T	(Likely) pathogenic	1 lab	31a8b1c2e0
16:3299635 MEFV G>A	16	3299635	3299635	G	A	MEFV	c.1056C>T	NM_000243.2	NP_000234.1:p.(Cys352=)	NC_000016.9:g.3299635G>A	(Likely) benign	1 lab	4e011965d7
15:26866593 GABRB3 T>C	15	26866593	26866593	T	C	GABRB3	c.329A>G	NM_000814.5	NP_000805.1:p.(Asn110Ser)	NC_000015.9:g.26866593T>C	(Likely) benign	1 lab	31acdf35db
5:134366998 PITX1 C>T	5	134366998	134366998	C	T	PITX1	c.370G>A	NM_002653.5	NP_002644.4:p.(Val124Met)	NC_000005.9:g.134366998C>T	VUS	1 lab	31adbe6d7e
1:94505620 ABCA4 T>A	1	94505620	94505620	T	A	ABCA4	c.3586A>T	NM_000350.2	NP_000341.2:p.(Thr1196Ser)	NC_000001.10:g.94505620T>A	VUS	1 lab	31aed5cdc0
11:66472366 SPTBN2 T>C	11	66472366	66472366	T	C	SPTBN2	c.2381A>G	NM_006946.3	NP_008877.1:p.(Glu794Gly)	NC_000011.9:g.66472366T>C	VUS	1 lab	31afa87413
21:36231795 RUNX1 CT>C	21	36231795	36231796	CT	C	RUNX1	c.588del	NM_001754.4	NP_001745.2:p.(Val197TrpfsTer14)	NC_000021.8:g.36231796del	(Likely) pathogenic	1 lab	31afb1aff6
2:73829303 ALMS1 T>C	2	73829303	73829303	T	C	ALMS1	c.12118-9T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73829303T>C	(Likely) benign	1 lab	047663b027
2:228115856 COL4A3 G>T	2	228115856	228115856	G	T	COL4A3	c.547G>T	NM_000091.4	NP_000082.2:p.(Gly183Cys)	NC_000002.11:g.228115856G>T	(Likely) pathogenic	1 lab	31b16404e4
7:151329181 PRKAG2 A>T	7	151329181	151329181	A	T	PRKAG2	c.728T>A	NM_016203.4	NP_057287.2:p.(Leu243Gln)	NC_000007.13:g.151329181A>T	(Likely) benign	1 lab	31b2cff0fe
18:72998526 TSHZ1 G>A	18	72998526	72998526	G	A	TSHZ1				NC_000018.9:g.72998526G>A	(Likely) benign	1 lab	37ac38f53b
1:216039684 USH2A A>G	1	216039684	216039684	A	G	USH2A	c.8845+665T>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216039684A>G	(Likely) benign	1 lab	31b6bc1e40
12:6704558 CHD4 T>C	12	6704558	6704558	T	C	CHD4	c.2063A>G	NM_001273.5	NP_001264.2:p.(Lys688Arg)	NC_000012.11:g.6704558T>C	VUS	1 lab	118fa04020
12:22005346 ABCC9 C>T	12	22005346	22005346	C	T	ABCC9	c.2599G>A	NM_005691.3	NP_005682.2:p.(Val867Ile)	NC_000012.11:g.22005346C>T	(Likely) benign	1 lab	31b80b5d32
1:236925743 ACTN2 G>A	1	236925743	236925743	G	A	ACTN2	c.2527-18G>A	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236925743G>A	(Likely) benign	1 lab	31b80dc893
3:165548187 BCHE G>A	3	165548187	165548187	G	A	BCHE	c.635C>T	NM_000055.3	NP_000046.1:p.(Ala212Val)	NC_000003.11:g.165548187G>A	VUS	1 lab	31b87ab447
X:79281182 TBX22 C>T	X	79281182	79281182	C	T	TBX22	c.539C>T	NM_001109878.2	NP_001103348.1:p.(Pro180Leu)	NC_000023.10:g.79281182C>T	VUS	1 lab	31bc46654b
8:61764745 CHD7 C>T	8	61764745	61764745	C	T	CHD7	c.5833C>T	NM_017780.3	NP_060250.2:p.(Arg1945Ter)	NC_000008.10:g.61764745C>T	(Likely) pathogenic	1 lab	31bd3edde0
4:88986579 PKD2 C>A	4	88986579	88986579	C	A	PKD2	c.2172C>A	NM_000297.4	NP_000288.1:p.(Asp724Glu)	NC_000004.11:g.88986579C>A	(Likely) benign	1 lab	0476d8e078
13:32929041 BRCA2 G>A	13	32929041	32929041	G	A	BRCA2	c.7051G>A	NM_000059.3	NP_000050.2:p.(Ala2351Thr)	NC_000013.10:g.32929041G>A	(Likely) benign	1 lab	31c53cbd07
11:6661532 DCHS1 T>C	11	6661532	6661532	T	C	DCHS1	c.1313A>G	NM_003737.4	NP_003728.1:p.(Tyr438Cys)	NC_000011.9:g.6661532T>C	VUS	1 lab	31c77f085b
9:137681034 COL5A1 A>G	9	137681034	137681034	A	G	COL5A1	c.2680A>G	NM_000093.5	NP_000084.3:p.(Asn894Asp)	NC_000009.11:g.137681034A>G	VUS	1 lab	31cc8549c6
5:89910091 ADGRV1 A>G	5	89910091	89910091	A	G	ADGRV1	c.23-561A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910091A>G	(Likely) benign	1 lab	04789e974e
11:108137929 ATM GA>G	11	108137929	108137930	GA	G	ATM	c.2499del	NM_000051.4	NP_000042.3:p.(Glu834LysfsTer2)	NC_000011.9:g.108137930del	(Likely) pathogenic	1 lab	31cf39fec6
14:77786793 POMT2 C>G	14	77786793	77786793	C	G	POMT2	c.232G>C	NM_013382.7	NP_037514.2:p.(Glu78Gln)	NC_000014.8:g.77786793C>G	VUS	1 lab	31d03872d8
20:42743567 JPH2 C>A	20	42743567	42743567	C	A	JPH2	c.2011-51G>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42743567C>A	(Likely) benign	1 lab	047a60f168
2:215595234 BARD1 T>C	2	215595234	215595234	T	C	BARD1	c.1904-2A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215595234T>C	(Likely) pathogenic	1 lab	31d369cdaf
12:57908964 MARS1 G>T	12	57908964	57908964	G	T	MARS1	c.2236G>T	NM_004990.4	NP_004981.2:p.(Val746Leu)	NC_000012.11:g.57908964G>T	VUS	1 lab	31d43131ba
2:166165261 SCN2A C>T	2	166165261	166165261	C	T	SCN2A	c.562C>T	NM_021007.3	NP_066287.2:p.(Arg188Trp)	NC_000002.11:g.166165261C>T	(Likely) pathogenic	1 lab	047c030452
12:79689961 SYT1 C>A	12	79689961	79689961	C	A	SYT1	c.587C>A	NM_005639.3	NP_005630.1:p.(Thr196Lys)	NC_000012.11:g.79689961C>A	(Likely) pathogenic	1 lab	31d6a24e45
5:251557 SDHA G>A	5	251557	251557	G	A	SDHA	c.1768G>A	NM_004168.2	NP_004159.2:p.(Gly590Ser)	NC_000005.9:g.251557G>A	(Likely) pathogenic	1 lab	31d8ac2f7e
11:66475676 SPTBN2 C>T	11	66475676	66475676	C	T	SPTBN2				NC_000011.9:g.66475676C>T	VUS	1 lab	31dab14215
15:67457633 SMAD3 C>A	15	67457633	67457633	C	A	SMAD3	c.443C>A	NM_005902.3	NP_005893.1:p.(Ala148Asp)	NC_000015.9:g.67457633C>A	VUS	1 lab	31dbdc1355
1:196797357 CFHR1 A>G	1	196797357	196797357	A	G	CFHR1	c.588A>G	NM_002113.2	NP_002104.2:p.(Thr196=)	NC_000001.10:g.196797357A>G	(Likely) benign	1 lab	31dd63bddf
11:64577579 MEN1 C>G	11	64577579	64577579	C	G	MEN1	c.3G>C	NM_130803.2	NP_570715.1:p.(Met1?)	NC_000011.9:g.64577579C>G	(Likely) pathogenic	1 lab	047c63028e
5:1878596 IRX4 G>C	5	1878596	1878596	G	C	IRX4	c.1125C>G	NM_001278633.1	NP_001265562.1:p.(Ala375=)	NC_000005.9:g.1878596G>C	(Likely) benign	1 lab	31e0142157
5:36680675 SLC1A3 C>A	5	36680675	36680675	C	A	SLC1A3	c.1273C>A	NM_004172.5	NP_004163.3:p.(Gln425Lys)	NC_000005.9:g.36680675C>A	VUS	1 lab	31e2b4ea14
12:988725 WNK1 C>T	12	988725	988725	C	T	WNK1	c.2374-14C>T	NM_018979.4	NP_061852.3:p.?	NC_000012.11:g.988725C>T	(Likely) benign	1 lab	047df9951b
5:90459626 ADGRV1 A>AATCT	5	90459626	90459630	A	AATCT	ADGRV1	c.18831_18834dup	NM_032119.3	NP_115495.3:p.(Gly6279IlefsTer13)	NC_000005.9:g.90459627_90459630dup	(Likely) pathogenic	1 lab	31e9e0b80a
20:49510461 ADNP G>A	20	49510461	49510461	G	A	ADNP	c.790C>T	NM_001282531.1	NP_001269460.1:p.(Arg264Ter)	NC_000020.10:g.49510461G>A	(Likely) pathogenic	1 lab	31eb44dccd
14:74953031 NPC2 C>G	14	74953031	74953031	C	G	NPC2	c.190+1G>C	NM_006432.5	NP_006423.1:p.?	NC_000014.8:g.74953031C>G	(Likely) pathogenic	1 lab	31ed55bd80
4:77661771 SHROOM3 C>A	4	77661771	77661771	C	A	SHROOM3	c.2445C>A	NM_020859.3	NP_065910.3:p.(Val815=)	NC_000004.11:g.77661771C>A	(Likely) benign	1 lab	31eec9ed53
7:143047693 CLCN1 C>T	7	143047693	143047693	C	T	CLCN1	c.2541C>T	NM_000083.3	NP_000074.3:p.(His847=)	NC_000007.13:g.143047693C>T	(Likely) benign	1 lab	0481b64f1e
12:52884916 KRT6A C>G	12	52884916	52884916	C	G	KRT6A	c.796G>C	NM_005554.4	NP_005545.1:p.(Glu266Gln)	NC_000012.11:g.52884916C>G	VUS	1 lab	31f18737ab
2:165947542 SCN3A G>T	2	165947542	165947542	G	T	SCN3A	c.5121C>A	NM_006922.3	NP_008853.3:p.(Thr1707=)	NC_000002.11:g.165947542G>T	(Likely) benign	1 lab	31f1a70c0d
11:61727429 BEST1 GA>CT	11	61727429	61727430	GA	CT	BEST1	c.1014_1015delinsCT	NM_004183.3	NP_004174.1:p.(Trp338_Asn339delinsCysTyr)	NC_000011.9:g.61727429_61727430delinsCT	VUS	1 lab	31f61c1733
2:74274188 TET3 TG>T	2	74274188	74274189	TG	T	TET3	c.1145del	NM_001287491.2	NP_001274420.1:p.(Cys382SerfsTer159)	NC_000002.11:g.74274189del	(Likely) pathogenic	1 lab	31f6766ef8
11:8707228 RPL27A T>C	11	8707228	8707228	T	C	RPL27A	c.322T>C	NM_000990.4	NP_000981.1:p.(Tyr108His)	NC_000011.9:g.8707228T>C	VUS	1 lab	31f8738709
11:118375461 KMT2A C>CT	11	118375461	118375462	C	CT	KMT2A	c.8855dup	NM_001197104.1	NP_001184033.1:p.(Ala2953SerfsTer22)	NC_000011.9:g.118375462dup	(Likely) pathogenic	1 lab	31f8d1b723
11:47459469 RAPSN G>A	11	47459469	47459469	G	A	RAPSN				NC_000011.9:g.47459469G>A	(Likely) benign	1 lab	31fa08b697
7:150647969 KCNH2 C>T	7	150647969	150647969	C	T	KCNH2	c.2145+40G>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150647969C>T	(Likely) benign	1 lab	31fa11dc71
5:112151267 APC C>CTT	5	112151267	112151269	C	CTT	APC	c.911_912insTT	NM_000038.5	NP_000029.2:p.(Thr305Ter)	NC_000005.9:g.112151268_112151269insTT	(Likely) pathogenic	1 lab	31fa3b1bbb
1:100377978 AGL A>C	1	100377978	100377978	A	C	AGL	c.3854A>C	NM_000028.2	NP_000019.2:p.(Glu1285Ala)	NC_000001.10:g.100377978A>C	VUS	1 lab	31fc176bfc
19:50098961 PRR12 T>C	19	50098961	50098961	T	C	PRR12	c.1369T>C	NM_020719.3	NP_065770.1:p.(Tyr457His)	NC_000019.9:g.50098961T>C	(Likely) benign	1 lab	31fd8c8190
1:154901525 PMVK A>G	1	154901525	154901525	A	G	PMVK	c.287T>C	NM_006556.4	NP_006547.1:p.(Val96Ala)	NC_000001.10:g.154901525A>G	VUS	1 lab	04891a92ef
16:23646323 PALB2 T>C	16	23646323	23646323	T	C	PALB2	c.1544A>G	NM_024675.4	NP_078951.2:p.(Lys515Arg)	NC_000016.9:g.23646323T>C	(Likely) benign	1 lab	3200c13e9a
9:131002011 DNM1 C>T	9	131002011	131002011	C	T	DNM1				NC_000009.11:g.131002011C>T	(Likely) pathogenic	1 lab	320a28d2da
16:8891792 PMM2 C>G	16	8891792	8891792	C	G	PMM2	c.53C>G	NM_000303.3	NP_000294.1:p.(Thr18Ser)	NC_000016.9:g.8891792C>G	(Likely) pathogenic	1 lab	320a422938
12:9004621 A2ML1 G>C	12	9004621	9004621	G	C	A2ML1	c.2463+13G>C	NM_144670.4	NP_653271.2:p.?	NC_000012.11:g.9004621G>C	(Likely) benign	1 lab	320bc96656
2:50574554 NRXN1 G>T	2	50574554	50574554	G	T	NRXN1	c.3365-110446C>A	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50574554G>T	(Likely) benign	1 lab	048965c74e
8:55539381 RP1 GTTT>G	8	55539381	55539384	GTTT	G	RP1	c.2940_2942del	NM_006269.2	NP_006260.1:p.(Leu981del)	NC_000008.10:g.55539382_55539384del	VUS	1 lab	3211be0106
18:52899788 TCF4 A>T	18	52899788	52899788	A	T	TCF4	c.1601T>A	NM_001083962.1	NP_001077431.1:p.(Leu534Ter)	NC_000018.9:g.52899788A>T	(Likely) pathogenic	1 lab	3212a525ae
X:55044078 ALAS2 C>A	X	55044078	55044078	C	A	ALAS2	c.844G>T	NM_000032.5	NP_000023.2:p.(Ala282Ser)	NC_000023.10:g.55044078C>A	VUS	1 lab	32133c2e31
2:228145713 COL4A3 G>A	2	228145713	228145713	G	A	COL4A3				NC_000002.11:g.228145713G>A	(Likely) pathogenic	1 lab	321568409f
X:153648476 TAFAZZIN G>GT	X	153648476	153648477	G	GT	TAFAZZIN	c.646+43_646+44insT	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648476_153648477insT	(Likely) benign	1 lab	3225073108
17:41258505 BRCA1 CT>C	17	41258505	41258506	CT	C	BRCA1	c.179del	NM_007294.4	NP_009225.1:p.(Gln60ArgfsTer9)	NC_000017.10:g.41258506del	(Likely) pathogenic	1 lab	3225ccc032
16:9014210 USP7 A>G	16	9014210	9014210	A	G	USP7	c.611+6T>C	NM_003470.3	NP_003461.2:p.?	NC_000016.9:g.9014210A>G	(Likely) pathogenic	1 lab	3226161328
17:41226520 BRCA1 G>T	17	41226520	41226520	G	T	BRCA1	c.4503C>A	NM_007294.3	NP_009225.1:p.(Cys1501Ter)	NC_000017.10:g.41226520G>T	(Likely) pathogenic	1 lab	3226cbb97c
18:50278694 DCC T>A	18	50278694	50278694	T	A	DCC	c.362T>A	NM_005215.3	NP_005206.2:p.(Leu121Ter)	NC_000018.9:g.50278694T>A	(Likely) pathogenic	1 lab	3227621a31
16:8904973 PMM2 G>A	16	8904973	8904973	G	A	PMM2	c.385G>A	NM_000303.3	NP_000294.1:p.(Val129Met)	NC_000016.9:g.8904973G>A	(Likely) pathogenic	1 lab	3227a8760c
16:2168437 PKD1 C>CAGGG	16	2168437	2168444	C	CAGGG	PKD1	c.552_555dup	NM_001009944.3	NP_001009944.3:p.(Asp186ProfsTer2)	NC_000016.9:g.2168441_2168444dup	(Likely) pathogenic	1 lab	3228b12e48
1:180849366 XPR1 C>T	1	180849366	180849366	C	T	XPR1	c.1963C>T	NM_004736.4	NP_004727.2:p.(Arg655Cys)	NC_000001.10:g.180849366C>T	VUS	1 lab	322958774b
11:17594633 OTOG T>TCAGTGCAGGCCTGCAGCGTGCTC	11	17594633	17594656	T	TCAGTGCAGGCCTGCAGCGTGCTC	OTOG	c.2126_2148dup	NM_001277269.1	NP_001264198.1:p.(Thr717GlnfsTer20)	NC_000011.9:g.17594634_17594656dup	(Likely) pathogenic	1 lab	322c13720c
10:76732253 KAT6B A>G	10	76732253	76732253	A	G	KAT6B				NC_000010.10:g.76732253A>G	(Likely) benign	1 lab	322c77389b
3:38627440 SCN5A T>C	3	38627440	38627440	T	C	SCN5A	c.2529A>G	NM_198056.2	NP_932173.1:p.(Thr843=)	NC_000003.11:g.38627440T>C	(Likely) benign	1 lab	322eaea52f
3:193363378 OPA1 A>T	3	193363378	193363378	A	T	OPA1	c.1645A>T	NM_130837.2	NP_570850.2:p.(Lys549Ter)	NC_000003.11:g.193363378A>T	(Likely) pathogenic	1 lab	322ebd9290
6:101076986 ASCC3 G>A	6	101076986	101076986	G	A	ASCC3	c.4280C>T	NM_006828.3	NP_006819.2:p.(Thr1427Met)	NC_000006.11:g.101076986G>A	VUS	1 lab	32334b715c
11:66483417 SPTBN2 T>G	11	66483417	66483417	T	G	SPTBN2	c.193A>C	NM_006946.2	NP_008877.1:p.(Lys65Gln)	NC_000011.9:g.66483417T>G	(Likely) pathogenic	1 lab	32368b7158
19:47342717 AP2S1 C>T	19	47342717	47342717	C	T	AP2S1	c.267+5G>A	NM_004069.3	NP_004060.2:p.?	NC_000019.9:g.47342717C>T	(Likely) benign	1 lab	3237a5e1bb
11:534285 HRAS C>T	11	534285	534285	C	T	HRAS	c.38G>A	NM_005343.2	NP_005334.1:p.(Gly13Asp)	NC_000011.9:g.534285C>T	(Likely) pathogenic	1 lab	323ac5f344
10:78651467 KCNMA1 T>C	10	78651467	78651467	T	C	KCNMA1	c.3158A>G	NM_001161352.1	NP_001154824.1:p.(Asn1053Ser)	NC_000010.10:g.78651467T>C	(Likely) pathogenic	1 lab	323bf5de8d
1:196953083 CFHR5 T>G	1	196953083	196953083	T	G	CFHR5	c.254-8T>G	NM_030787.4	NP_110414.1:p.?	NC_000001.10:g.196953083T>G	(Likely) benign	1 lab	324123acfe
2:227875070 COL4A4 A>T	2	227875070	227875070	A	T	COL4A4	c.4481T>A	NM_000092.4	NP_000083.3:p.(Leu1494Ter)	NC_000002.11:g.227875070A>T	(Likely) pathogenic	1 lab	32420e622b
12:66839254 GRIP1 C>T	12	66839254	66839254	C	T	GRIP1	c.1233G>A	NM_021150.4	NP_066973.2:p.(Gly411=)	NC_000012.11:g.66839254C>T	(Likely) benign	1 lab	048b1dfc3e
7:6022501 PMS2 C>T	7	6022501	6022501	C	T	PMS2	c.2128G>A	NM_000535.7	NP_000526.2:p.(Glu710Lys)	NC_000007.13:g.6022501C>T	VUS	1 lab	3246509e9c
2:165997340 SCN3A G>A	2	165997340	165997340	G	A	SCN3A				NC_000002.11:g.165997340G>A	VUS	1 lab	3a99e0d1aa
2:47702305 MSH2 T>G	2	47702305	47702305	T	G	MSH2	c.1901T>G	NM_000251.2	NP_000242.1:p.(Leu634Ter)	NC_000002.11:g.47702305T>G	(Likely) pathogenic	1 lab	3246819948
9:3275526 RFX3 G>A	9	3275526	3275526	G	A	RFX3	c.1060C>T	NM_001282116.2	NP_001269045.1:p.(Gln354Ter)	NC_000009.11:g.3275526G>A	(Likely) pathogenic	1 lab	3249b048e1
2:167056109 SCN9A A>T	2	167056109	167056109	A	T	SCN9A	c.5040T>A	NM_001365536.1	NP_001352465.1:p.(Asn1680Lys)	NC_000002.11:g.167056109A>T	VUS	1 lab	32515bcc23
3:38770300 SCN10A G>A	3	38770300	38770300	G	A	SCN10A	c.2373C>T	NM_006514.4	NP_006505.4:p.(Thr791=)	NC_000003.11:g.38770300G>A	(Likely) benign	1 lab	32519a01fb
8:61765391 CHD7 C>T	8	61765391	61765391	C	T	CHD7	c.6107C>T	NM_017780.3	NP_060250.2:p.(Pro2036Leu)	NC_000008.10:g.61765391C>T	(Likely) benign	1 lab	32587c80c4
11:68131377 LRP5 C>T	11	68131377	68131377	C	T	LRP5	c.849C>T	NM_002335.4	NP_002326.2:p.(Asp283=)	NC_000011.9:g.68131377C>T	(Likely) benign	1 lab	325ddc487e
16:89347299 ANKRD11 G>C	16	89347299	89347299	G	C	ANKRD11	c.5651C>G	NM_013275.6	NP_037407.4:p.(Ser1884Ter)	NC_000016.9:g.89347299G>C	(Likely) pathogenic	1 lab	325e0ead54
20:35526320 SAMHD1 G>A	20	35526320	35526320	G	A	SAMHD1	c.1651C>T	NM_015474.3	NP_056289.2:p.(Arg551Ter)	NC_000020.10:g.35526320G>A	(Likely) pathogenic	1 lab	325e3b0a70
16:56904031 SLC12A3 C>T	16	56904031	56904031	C	T	SLC12A3	c.625C>T	NM_000339.2	NP_000330.2:p.(Arg209Trp)	NC_000016.9:g.56904031C>T	(Likely) pathogenic	1 lab	325ea2b866
6:31692533 MPIG6B C>G	6	31692533	31692533	C	G	MPIG6B	c.461C>G	NM_138273.2	NP_612117.1:p.(Pro154Arg)	NC_000006.11:g.31692533C>G	VUS	1 lab	3260ddaea6
17:44111654 KANSL1 G>T	17	44111654	44111654	G	T	KANSL1	c.2542-3C>A	NM_001193466.1	NP_001180395.1:p.?	NC_000017.10:g.44111654G>T	(Likely) pathogenic	1 lab	3261a9244d
11:2585230 KCNQ1 C>T	11	2585230	2585230	C	T	KCNQ1	c.478-6628C>T	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2585230C>T	(Likely) benign	1 lab	326b5d3a98
X:73961408 NEXMIF G>T	X	73961408	73961408	G	T	NEXMIF				NC_000023.10:g.73961408G>T	(Likely) pathogenic	1 lab	326c9d057e
11:76901162 MYO7A C>T	11	76901162	76901162	C	T	MYO7A				NC_000011.9:g.76901162C>T	(Likely) pathogenic	1 lab	3271e4071f
19:38966058 RYR1 G>A	19	38966058	38966058	G	A	RYR1	c.4261G>A	NM_000540.2	NP_000531.2:p.(Asp1421Asn)	NC_000019.9:g.38966058G>A	VUS	1 lab	32732f2ba2
10:88854423 GLUD1 C>T	10	88854423	88854423	C	T	GLUD1	c.104G>A	NM_005271.3	NP_005262.1:p.(Gly35Glu)	NC_000010.10:g.88854423C>T	VUS	1 lab	327388d932
22:38374096 SOX10 G>A	22	38374096	38374096	G	A	SOX10	c.475C>T	NM_006941.3	NP_008872.1:p.(Arg159Trp)	NC_000022.10:g.38374096G>A	(Likely) pathogenic	1 lab	32763497be
14:36988175 NKX2-1 G>A	14	36988175	36988175	G	A	NKX2-1	c.463+15C>T	NM_001079668.2	NP_001073136.1:p.?	NC_000014.8:g.36988175G>A	(Likely) benign	1 lab	327f08fc74
17:56787260 RAD51C G>A	17	56787260	56787260	G	A	RAD51C	c.746G>A	NM_058216.3	NP_478123.1:p.(Arg249His)	NC_000017.10:g.56787260G>A	VUS	1 lab	327fda7908
2:179539807 TTN C>T	2	179539807	179539807	C	T	TTN	c.34571G>A	NM_001267550.2	NP_001254479.2:p.(Arg11524Gln)	NC_000002.11:g.179539807C>T	(Likely) benign	1 lab	328127bfe9
X:48781136 OTUD5 C>G	X	48781136	48781136	C	G	OTUD5	c.1457G>C	NM_001136157.2	NP_001129629.1:p.(Cys486Ser)	NC_000023.10:g.48781136C>G	VUS	1 lab	3284d5a9bb
18:48604871 SMAD4 G>A	18	48604871	48604871	G	A	SMAD4	c.*34G>A	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48604871G>A	(Likely) benign	1 lab	32858f1fcd
2:71191681 ATP6V1B1 A>G	2	71191681	71191681	A	G	ATP6V1B1	c.1248+9A>G	NM_001692.3	NP_001683.2:p.?	NC_000002.11:g.71191681A>G	(Likely) benign	1 lab	3287289a33
2:56108864 EFEMP1 C>T	2	56108864	56108864	C	T	EFEMP1	c.523G>A	NM_001039348.2	NP_001034437.1:p.(Asp175Asn)	NC_000002.11:g.56108864C>T	(Likely) benign	1 lab	3287b5a9e3
2:39222476 SOS1 G>C	2	39222476	39222476	G	C	SOS1				NC_000002.11:g.39222476G>C	(Likely) pathogenic	1 lab	3287f26c63
12:80828843 MISSING A>G	12	80828843	80828843	A	G	MISSING				NC_000012.11:g.80828843A>G	(Likely) benign	1 lab	3289a7216a
5:118862828 HSD17B4 G>C	5	118862828	118862828	G	C	HSD17B4	c.1681G>C	NM_000414.3	NP_000405.1:p.(Ala561Pro)	NC_000005.9:g.118862828G>C	(Likely) pathogenic	1 lab	328ca0f267
12:6103075 VWF C>T	12	6103075	6103075	C	T	VWF	c.6551G>A	NM_000552.3	NP_000543.2:p.(Cys2184Tyr)	NC_000012.11:g.6103075C>T	(Likely) pathogenic	1 lab	328e2b0d1f
15:93496702 CHD2 G>A	15	93496702	93496702	G	A	CHD2	c.1618G>A	NM_001271.3	NP_001262.3:p.(Val540Ile)	NC_000015.9:g.93496702G>A	VUS	1 lab	328e2deab5
1:237955497 RYR2 T>C	1	237955497	237955497	T	C	RYR2	c.13656T>C	NM_001035.2	NP_001026.2:p.(His4552=)	NC_000001.10:g.237955497T>C	(Likely) benign	1 lab	3295a4b458
16:2142030 PKD1 G>A	16	2142030	2142030	G	A	PKD1	c.11411+18C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2142030G>A	(Likely) benign	1 lab	0492cbaca2
X:99662243 PCDH19 C>T	X	99662243	99662243	C	T	PCDH19	c.1353G>A	NM_001184880.2	NP_001171809.1:p.(Pro451=)	NC_000023.10:g.99662243C>T	(Likely) benign	1 lab	049316a728
6:129622006 LAMA2 A>G	6	129622006	129622006	A	G	LAMA2	c.3163A>G	NM_000426.3	NP_000417.2:p.(Thr1055Ala)	NC_000006.11:g.129622006A>G	(Likely) benign	1 lab	329b643203
7:98555698 TRRAP T>C	7	98555698	98555698	T	C	TRRAP	c.6251T>C	NM_003496.3	NP_003487.1:p.(Ile2084Thr)	NC_000007.13:g.98555698T>C	(Likely) pathogenic	1 lab	329d1de742
4:187115777 CYP4V2 G>C	4	187115777	187115777	G	C	CYP4V2	c.327+11G>C	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187115777G>C	(Likely) benign	1 lab	32a5505151
5:161309706 GABRA1 A>G	5	161309706	161309706	A	G	GABRA1	c.702A>G	NM_000806.5	NP_000797.2:p.(Thr234=)	NC_000005.9:g.161309706A>G	(Likely) benign	1 lab	32a5d399e5
2:215645382 BARD1 G>A	2	215645382	215645382	G	A	BARD1	c.1216C>T	NM_000465.4	NP_000456.2:p.(Arg406Ter)	NC_000002.11:g.215645382G>A	(Likely) pathogenic	1 lab	32a6d7f706
10:79759834 POLR3A C>A	10	79759834	79759834	C	A	POLR3A	c.2521G>T	NM_007055.4	NP_008986.2:p.(Gly841Cys)	NC_000010.10:g.79759834C>A	VUS	1 lab	32a72c8b11
17:59878824 BRIP1 G>A	17	59878824	59878824	G	A	BRIP1	c.930C>T	NM_032043.3	NP_114432.2:p.(Cys310=)	NC_000017.10:g.59878824G>A	(Likely) benign	1 lab	32a7578389
3:183963586 ALG3 A>G	3	183963586	183963586	A	G	ALG3	c.211T>C	NM_005787.6	NP_005778.1:p.(Trp71Arg)	NC_000003.11:g.183963586A>G	(Likely) pathogenic	1 lab	32ae090856
1:201031133 CACNA1S C>T	1	201031133	201031133	C	T	CACNA1S	c.2992G>A	NM_000069.2	NP_000060.2:p.(Asp998Asn)	NC_000001.10:g.201031133C>T	(Likely) benign	1 lab	32ae185959
11:119155982 CBL C>A	11	119155982	119155982	C	A	CBL	c.1647C>A	NM_005188.3	NP_005179.2:p.(Asp549Glu)	NC_000011.9:g.119155982C>A	(Likely) benign	1 lab	32aecfbd4b
2:166894608 SCN1A G>A	2	166894608	166894608	G	A	SCN1A	c.2624C>T	NM_001165963.1	NP_001159435.1:p.(Thr875Met)	NC_000002.11:g.166894608G>A	(Likely) pathogenic	1 lab	32b22d7e22
10:126100589 OAT C>T	10	126100589	126100589	C	T	OAT				NC_000010.10:g.126100589C>T	(Likely) pathogenic	1 lab	32b2c2c7f7
19:13446685 CACNA1A G>T	19	13446685	13446685	G	T	CACNA1A	c.1017C>A	NM_001127221.1	NP_001120693.1:p.(Tyr339Ter)	NC_000019.9:g.13446685G>T	(Likely) pathogenic	1 lab	32b6506a53
7:140476815 BRAF A>G	7	140476815	140476815	A	G	BRAF	c.1591T>C	NM_004333.4	NP_004324.2:p.(Trp531Arg)	NC_000007.13:g.140476815A>G	VUS	1 lab	32b695c8c2
X:76890173 ATRX C>T	X	76890173	76890173	C	T	ATRX	c.4721G>A	NM_000489.3	NP_000480.2:p.(Cys1574Tyr)	NC_000023.10:g.76890173C>T	(Likely) pathogenic	1 lab	32b6e4d198
10:43615592 RET T>G	10	43615592	43615592	T	G	RET	c.2671T>G	NM_020975.4	NP_066124.1:p.(Ser891Ala)	NC_000010.10:g.43615592T>G	(Likely) pathogenic	1 lab	32b72581eb
22:37260112 NCF4 G>A	22	37260112	37260112	G	A	NCF4	c.58G>A	NM_013416.3	NP_038202.2:p.(Val20Ile)	NC_000022.10:g.37260112G>A	(Likely) benign	1 lab	0493647039
X:148568545 IDS G>A	X	148568545	148568545	G	A	IDS	c.1091C>T	NM_000202.5	NP_000193.1:p.(Pro364Leu)	NC_000023.10:g.148568545G>A	VUS	1 lab	32ba2afda0
19:55667605 TNNI3 C>A	19	55667605	55667605	C	A	TNNI3	c.246G>T	NM_000363.4	NP_000354.4:p.(Pro82=)	NC_000019.9:g.55667605C>A	(Likely) benign	1 lab	32bb2804f4
9:130423489 STXBP1 G>C	9	130423489	130423489	G	C	STXBP1	c.429+5G>C	NM_003165.3	NP_003156.1:p.?	NC_000009.11:g.130423489G>C	(Likely) pathogenic	1 lab	32bbb6c87e
20:4866508 SLC23A2 C>T	20	4866508	4866508	C	T	SLC23A2	c.530G>A	NM_005116.5	NP_005107.4:p.(Arg177Gln)	NC_000020.10:g.4866508C>T	VUS	1 lab	32bc5df625
15:49103176 CEP152 T>A	15	49103176	49103176	T	A	CEP152	c.-26A>T	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49103176T>A	(Likely) benign	1 lab	32bc6541e3
13:32912137 BRCA2 G>A	13	32912137	32912137	G	A	BRCA2	c.3645G>A	NM_000059.3	NP_000050.2:p.(Gly1215=)	NC_000013.10:g.32912137G>A	(Likely) benign	1 lab	32bdff7d26
X:43832545 NDP C>T	X	43832545	43832545	C	T	NDP	c.-208+5G>A	NM_000266.3	NP_000257.1:p.?	NC_000023.10:g.43832545C>T	(Likely) pathogenic	1 lab	32c3fed3d6
2:158630640 ACVR1 T>C	2	158630640	158630640	T	C	ACVR1	c.603A>G	NM_001105.4	NP_001096.1:p.(Gln201=)	NC_000002.11:g.158630640T>C	VUS	1 lab	32caf15599
19:50905974 POLD1 G>A	19	50905974	50905974	G	A	POLD1	c.946G>A	NM_002691.4	NP_002682.2:p.(Asp316Asn)	NC_000019.9:g.50905974G>A	(Likely) pathogenic	1 lab	32cb3e0764
19:6707931 C3 C>T	19	6707931	6707931	C	T	C3	c.1855G>A	NM_000064.2	NP_000055.2:p.(Val619Met)	NC_000019.9:g.6707931C>T	VUS	1 lab	3b64c38fed
7:138418880 ATP6V0A4 C>T	7	138418880	138418880	C	T	ATP6V0A4	c.1691+1G>A	NM_020632.2	NP_065683.2:p.?	NC_000007.13:g.138418880C>T	(Likely) pathogenic	1 lab	32ce1133d4
X:10535155 MID1 A>T	X	10535155	10535155	A	T	MID1	c.433T>A	NM_000381.3	NP_000372.1:p.(Cys145Ser)	NC_000023.10:g.10535155A>T	(Likely) pathogenic	1 lab	32ceb146b9
12:89860651 POC1B TA>T	12	89860651	89860653	TA	T	POC1B				NC_000012.11:g.89860653del	(Likely) pathogenic	1 lab	393366cd11
1:209974734 IRF6 G>A	1	209974734	209974734	G	A	IRF6	c.25C>T	NM_006147.3	NP_006138.1:p.(Arg9Trp)	NC_000001.10:g.209974734G>A	(Likely) pathogenic	1 lab	32cfaea7ed
6:31637675 CSNK2B T>TC	6	31637675	31637676	T	TC	CSNK2B	c.621dup	NM_001320.7	NP_001311.3:p.(Lys208GlnfsTer38)	NC_000006.11:g.31637676dup	(Likely) pathogenic	1 lab	32d02ed4fb
3:38793844 SCN10A C>T	3	38793844	38793844	C	T	SCN10A	c.1621G>A	NM_006514.4	NP_006505.4:p.(Gly541Arg)	NC_000003.11:g.38793844C>T	(Likely) benign	1 lab	32d044af89
9:139411713 NOTCH1 G>A	9	139411713	139411713	G	A	NOTCH1	c.1555+11C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139411713G>A	(Likely) benign	1 lab	32d1874335
20:36024712 SRC C>G	20	36024712	36024712	C	G	SRC	c.701C>G	NM_198291.3	NP_938033.1:p.(Ser234Cys)	NC_000020.10:g.36024712C>G	VUS	1 lab	32d3a6f2cf
17:33428014 RAD51D C>T	17	33428014	33428014	C	T	RAD51D	c.945G>A	NM_002878.4	NP_002869.3:p.(Gly315=)	NC_000017.10:g.33428014C>T	(Likely) benign	1 lab	32d82f6c3f
15:73616442 HCN4 G>A	15	73616442	73616442	G	A	HCN4	c.2131C>T	NM_005477.3	NP_005468.1:p.(Leu711=)	NC_000015.9:g.73616442G>A	(Likely) benign	1 lab	32de93ecaa
9:23701563 ELAVL2 C>T	9	23701563	23701563	C	T	ELAVL2	c.614G>A	NM_001351455.1	NP_001338384.1:p.(Arg205Gln)	NC_000009.11:g.23701563C>T	(Likely) pathogenic	1 lab	32e5e21e80
6:32008312 TNXB C>T	6	32008312	32008312	C	T	TNXB				NC_000006.11:g.32008312C>T	(Likely) pathogenic	1 lab	3bfb35d8e0
7:98490140 TRRAP C>T	7	98490140	98490140	C	T	TRRAP	c.355C>T	NM_001375524.1	NP_001362453.1:p.(Arg119Cys)	NC_000007.13:g.98490140C>T	VUS	1 lab	32e8ba848d
17:78081636 GAA T>C	17	78081636	78081636	T	C	GAA	c.896T>C	NM_000152.4	NP_000143.2:p.(Leu299Pro)	NC_000017.10:g.78081636T>C	VUS	1 lab	32e9c7dff3
12:13715975 GRIN2B A>G	12	13715975	13715975	A	G	GRIN2B	c.4197T>C	NM_000834.3	NP_000825.2:p.(His1399=)	NC_000012.11:g.13715975A>G	(Likely) benign	1 lab	32ead75fc4
5:233572 SDHA A>G	5	233572	233572	A	G	SDHA	c.896-20A>G	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.233572A>G	(Likely) benign	1 lab	32eefb26a2
22:29147293 HSCB A>G	22	29147293	29147293	A	G	HSCB	c.616+17A>G	NM_172002.5	NP_741999.3:p.?	NC_000022.10:g.29147293A>G	(Likely) benign	1 lab	32f19781eb
16:75513201 CHST6 C>T	16	75513201	75513201	C	T	CHST6	c.526G>A	NM_021615.5	NP_067628.1:p.(Val176Met)	NC_000016.9:g.75513201C>T	VUS	1 lab	32f3c5d763
5:1208972 SLC6A19 G>A	5	1208972	1208972	G	A	SLC6A19	c.314G>A	NM_001003841.2	NP_001003841.1:p.(Ser105Asn)	NC_000005.9:g.1208972G>A	VUS	1 lab	32f8c22e6a
14:23874364 MYH6 G>A	14	23874364	23874364	G	A	MYH6	c.503-28C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23874364G>A	(Likely) benign	1 lab	32fa9325a3
12:88496779 CEP290 T>C	12	88496779	88496779	T	C	CEP290	c.2827A>G	NM_025114.4	NP_079390.3:p.(Ile943Val)	NC_000012.11:g.88496779T>C	(Likely) benign	1 lab	0497634870
19:6702242 C3 G>T	19	6702242	6702242	G	T	C3	c.2355-19C>A	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6702242G>T	(Likely) benign	1 lab	32fe43abb2
5:153144076 GRIA1 G>A	5	153144076	153144076	G	A	GRIA1	c.1906G>A	NM_001114183.1	NP_001107655.1:p.(Ala636Thr)	NC_000005.9:g.153144076G>A	(Likely) pathogenic	1 lab	3303e0e68c
18:29118910 DSG2 G>A	18	29118910	29118910	G	A	DSG2	c.1848G>A	NM_001943.5	NP_001934.2:p.(Ala616=)	NC_000018.9:g.29118910G>A	(Likely) benign	1 lab	3305b0ab1f
2:215632313 BARD1 C>A	2	215632313	215632313	C	A	BARD1	c.1461G>T	NM_000465.4	NP_000456.2:p.(Val487=)	NC_000002.11:g.215632313C>A	(Likely) benign	1 lab	3307641fde
22:37482322 TMPRSS6 C>A	22	37482322	37482322	C	A	TMPRSS6	c.1000+1G>T	NM_153609.3	NP_705837.1:p.?	NC_000022.10:g.37482322C>A	(Likely) pathogenic	1 lab	33089d6e30
9:123777474 C5 T>C	9	123777474	123777474	T	C	C5	c.2059+3A>G	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123777474T>C	VUS	1 lab	3308fc8fe8
17:7915920 GUCY2D G>A	17	7915920	7915920	G	A	GUCY2D	c.2109G>A	NM_000180.3	NP_000171.1:p.(Ala703=)	NC_000017.10:g.7915920G>A	(Likely) benign	1 lab	330976f4f5
15:89861978 POLG A>C	15	89861978	89861978	A	C	POLG	c.3276T>G	NM_002693.3	NP_002684.1:p.(Phe1092Leu)	NC_000015.9:g.89861978A>C	VUS	1 lab	330acccdce
1:16270963 ZBTB17 G>C	1	16270963	16270963	G	C	ZBTB17	c.1203C>G	NM_003443.2	NP_003434.2:p.(Thr401=)	NC_000001.10:g.16270963G>C	(Likely) benign	1 lab	330b0a27bc
2:227916995 COL4A4 A>T	2	227916995	227916995	A	T	COL4A4	c.2968+26T>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227916995A>T	(Likely) benign	1 lab	330c0a8c0c
14:68260392 ZFYVE26 A>G	14	68260392	68260392	A	G	ZFYVE26	c.2486T>C	NM_015346.3	NP_056161.2:p.(Met829Thr)	NC_000014.8:g.68260392A>G	VUS	1 lab	331618385a
2:48026021 MSH6 G>A	2	48026021	48026021	G	A	MSH6	c.899G>A	NM_000179.3	NP_000170.1:p.(Arg300Gln)	NC_000002.11:g.48026021G>A	VUS	1 lab	3337921116
19:48339541 CRX C>T	19	48339541	48339541	C	T	CRX	c.142C>T	NM_000554.4	NP_000545.1:p.(Arg48Trp)	NC_000019.9:g.48339541C>T	VUS	1 lab	33818a5a90
11:68560866 CPT1A C>T	11	68560866	68560866	C	T	CPT1A	c.884G>A	NM_001876.3	NP_001867.2:p.(Arg295His)	NC_000011.9:g.68560866C>T	(Likely) benign	1 lab	331b6b43ee
16:3293660 MEFV G>C	16	3293660	3293660	G	C	MEFV	c.1827C>G	NM_000243.2	NP_000234.1:p.(Pro609=)	NC_000016.9:g.3293660G>C	(Likely) benign	1 lab	04977d7f68
2:48033533 MSH6 T>A	2	48033533	48033533	T	A	MSH6	c.3801+36T>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033533T>A	(Likely) benign	1 lab	331c2014d0
13:32937293 BRCA2 T>G	13	32937293	32937293	T	G	BRCA2	c.7977-23T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937293T>G	(Likely) benign	1 lab	331efb2e96
5:176637584 NSD1 T>TA	5	176637584	176637586	T	TA	NSD1	c.2186dup	NM_022455.5	NP_071900.2:p.(Asn729LysfsTer4)	NC_000005.9:g.176637586dup	(Likely) pathogenic	1 lab	332024fc7f
8:68152468 ARFGEF1 T>G	8	68152468	68152468	T	G	ARFGEF1	c.2908A>C	NM_006421.5	NP_006412.2:p.(Thr970Pro)	NC_000008.10:g.68152468T>G	VUS	1 lab	33214c71ef
19:50779413 MYH14 C>T	19	50779413	50779413	C	T	MYH14	c.3633C>T	NM_001145809.2	NP_001139281.1:p.(Gly1211=)	NC_000019.9:g.50779413C>T	VUS	1 lab	33242de5af
12:110230208 TRPV4 G>C	12	110230208	110230208	G	C	TRPV4	c.1851C>G	NM_021625.4	NP_067638.3:p.(Phe617Leu)	NC_000012.11:g.110230208G>C	(Likely) pathogenic	1 lab	332435aacb
2:179505973 TTN G>A	2	179505973	179505973	G	A	TTN	c.40628C>T	NM_001267550.2	NP_001254479.2:p.(Pro13543Leu)	NC_000002.11:g.179505973G>A	VUS	1 lab	33293494ce
17:29422329 NF1 T>G	17	29422329	29422329	T	G	NF1	c.2T>G	NM_000267.3	NP_000258.1:p.(Met1?)	NC_000017.10:g.29422329T>G	(Likely) pathogenic	1 lab	332cadaefe
X:47486739 CFP G>C	X	47486739	47486739	G	C	CFP	c.575-8C>G	NM_001145252.3	NP_001138724.1:p.?	NC_000023.10:g.47486739G>C	VUS	1 lab	332e2cc566
3:48679322 CELSR3 C>A	3	48679322	48679322	C	A	CELSR3	c.8786G>T	NM_001407.2	NP_001398.2:p.(Arg2929Leu)	NC_000003.11:g.48679322C>A	VUS	1 lab	33318611c6
18:43460162 EPG5 C>T	18	43460162	43460162	C	T	EPG5	c.5545G>A	NM_020964.2	NP_066015.2:p.(Glu1849Lys)	NC_000018.9:g.43460162C>T	(Likely) benign	1 lab	3335e9512f
2:228169782 COL4A3 G>A	2	228169782	228169782	G	A	COL4A3	c.4235G>A	NM_000091.4	NP_000082.2:p.(Gly1412Asp)	NC_000002.11:g.228169782G>A	(Likely) pathogenic	1 lab	333949430b
6:76564885 MYO6 C>T	6	76564885	76564885	C	T	MYO6	c.1108C>T	NM_004999.3	NP_004990.3:p.(Gln370Ter)	NC_000006.11:g.76564885C>T	(Likely) pathogenic	1 lab	333b84c930
15:51828906 DMXL2 C>A	15	51828906	51828906	C	A	DMXL2				NC_000015.9:g.51828906C>A	VUS	1 lab	39ac3e2d64
11:108178737 C11orf65 C>T	11	108178737	108178737	C	T	C11orf65				NC_000011.9:g.108178737C>T	(Likely) benign	1 lab	333e9bba09
4:114279464 ANK2 G>A	4	114279464	114279464	G	A	ANK2	c.9690G>A	NM_001148.5	NP_001139.3:p.(Thr3230=)	NC_000004.11:g.114279464G>A	(Likely) benign	1 lab	333f2b1a0c
X:85212840 CHM C>G	X	85212840	85212840	C	G	CHM	c.940+20G>C	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85212840C>G	(Likely) benign	1 lab	3344cd7277
10:124754059 IKZF5 A>G	10	124754059	124754059	A	G	IKZF5	c.497T>C	NM_001372123.1	NP_001359052.1:p.(Ile166Thr)	NC_000010.10:g.124754059A>G	VUS	1 lab	3347833b2d
14:36988271 NKX2-1 G>A	14	36988271	36988271	G	A	NKX2-1	c.382C>T	NM_001079668.2	NP_001073136.1:p.(Pro128Ser)	NC_000014.8:g.36988271G>A	VUS	1 lab	3356093813
X:153009203 ABCD1 G>A	X	153009203	153009203	G	A	ABCD1	c.*14G>A	NM_000033.3	NP_000024.2:p.?	NC_000023.10:g.153009203G>A	(Likely) benign	1 lab	33566aee24
19:11289372 KANK2 G>A	19	11289372	11289372	G	A	KANK2	c.1274C>T	NM_001136191.2	NP_001129663.1:p.(Ser425Leu)	NC_000019.9:g.11289372G>A	(Likely) benign	1 lab	049c4926ce
2:105473252 POU3F3 C>A	2	105473252	105473252	C	A	POU3F3	c.1284C>A	NM_006236.1	NP_006227.1:p.(Cys428Ter)	NC_000002.11:g.105473252C>A	VUS	1 lab	335aed0394
7:35289941 TBX20 C>CA	7	35289941	35289942	C	CA	TBX20	c.128-127dup	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35289942dup	(Likely) benign	1 lab	335b5f1c0d
16:9862834 GRIN2A C>T	16	9862834	9862834	C	T	GRIN2A	c.2469G>A	NM_001134407.3	NP_001127879.1:p.(Met823Ile)	NC_000016.9:g.9862834C>T	(Likely) pathogenic	1 lab	335c04776f
5:112175191 APC TA>T	5	112175191	112175192	TA	T	APC	c.3901del	NM_000038.6	NP_000029.2:p.(Thr1301ProfsTer4)	NC_000005.9:g.112175192del	(Likely) pathogenic	1 lab	335ce82ee3
3:193336639 OPA1 T>C	3	193336639	193336639	T	C	OPA1	c.611-19T>C	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193336639T>C	(Likely) benign	1 lab	335f5dbb0e
1:179530428 NPHS2 G>A	1	179530428	179530428	G	A	NPHS2	c.447C>T	NM_014625.2	NP_055440.1:p.(Gly149=)	NC_000001.10:g.179530428G>A	(Likely) benign	1 lab	335fbb46bf
11:19207868 CSRP3 G>A	11	19207868	19207868	G	A	CSRP3	c.309C>T	NM_003476.4	NP_003467.1:p.(Thr103=)	NC_000011.9:g.19207868G>A	(Likely) benign	1 lab	3364829a5a
2:179442726 TTN A>T	2	179442726	179442726	A	T	TTN	c.68516T>A	NM_001267550.2	NP_001254479.2:p.(Leu22839Gln)	NC_000002.11:g.179442726A>T	VUS	1 lab	3365ebbad7
X:153418514 OPN1LW GTG>ATT	X	153418514	153418516	GTG	ATT	OPN1LW	c.511_513delinsATT	NM_020061.4	NP_064445.1:p.(Val171Ile)	NC_000023.10:g.153418514_153418516delinsATT	(Likely) pathogenic	1 lab	336b53f23d
5:90281212 ADGRV1 C>T	5	90281212	90281212	C	T	ADGRV1	c.18025C>T	NM_032119.4	NP_115495.3:p.(Arg6009Ter)	NC_000005.9:g.90281212C>T	(Likely) pathogenic	1 lab	336d914f62
20:5943956 MCM8 G>C	20	5943956	5943956	G	C	MCM8	c.826G>C	NM_032485.6	NP_115874.3:p.(Ala276Pro)	NC_000020.10:g.5943956G>C	(Likely) benign	1 lab	336e5fc72d
1:228460996 OBSCN G>T	1	228460996	228460996	G	T	OBSCN	c.6010G>T	NM_001271223.2	NP_001258152.2:p.(Glu2004Ter)	NC_000001.10:g.228460996G>T	VUS	1 lab	336ef61e5c
3:114069913 ZBTB20 C>A	3	114069913	114069913	C	A	ZBTB20	c.1012G>T	NM_001348800.3	NP_001335729.1:p.(Asp338Tyr)	NC_000003.11:g.114069913C>A	VUS	1 lab	337055df8b
1:94480222 ABCA4 G>T	1	94480222	94480222	G	T	ABCA4	c.5337C>A	NM_000350.2	NP_000341.2:p.(Tyr1779Ter)	NC_000001.10:g.94480222G>T	(Likely) pathogenic	1 lab	337112a13a
3:38781105 SCN10A C>T	3	38781105	38781105	C	T	SCN10A	c.2181G>A	NM_006514.2	NP_006505.2:p.(Lys727=)	NC_000003.11:g.38781105C>T	VUS	1 lab	3372335376
X:18528946 CDKL5 A>G	X	18528946	18528946	A	G	CDKL5				NC_000023.10:g.18528946A>G	(Likely) pathogenic	1 lab	33751dc287
3:100964675 IMPG2 C>G	3	100964675	100964675	C	G	IMPG2	c.1514G>C	NM_016247.3	NP_057331.2:p.(Arg505Thr)	NC_000003.11:g.100964675C>G	VUS	1 lab	3378cb705a
11:76871318 MYO7A C>A	11	76871318	76871318	C	A	MYO7A	c.1190C>A	NM_000260.4	NP_000251.3:p.(Ala397Asp)	NC_000011.9:g.76871318C>A	(Likely) pathogenic	1 lab	3378cd810a
18:29125968 DSG2 A>G	18	29125968	29125968	A	G	DSG2	c.2619A>G	NM_001943.4	NP_001934.2:p.(Gln873=)	NC_000018.9:g.29125968A>G	(Likely) benign	1 lab	3379292264
X:107802325 COL4A5 AC>A	X	107802325	107802328	AC	A	COL4A5	c.176del	NM_033380.2	NP_203699.1:p.(Pro59GlnfsTer96)	NC_000023.10:g.107802328del	(Likely) pathogenic	1 lab	337991aa07
X:10155595 CLCN4 A>G	X	10155595	10155595	A	G	CLCN4	c.185A>G	NM_001830.3	NP_001821.2:p.(Lys62Arg)	NC_000023.10:g.10155595A>G	(Likely) pathogenic	1 lab	33815fabd1
20:42745062 JPH2 C>G	20	42745062	42745062	C	G	JPH2	c.1289-36G>C	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42745062C>G	(Likely) benign	1 lab	3382ce27f2
16:89349866 ANKRD11 G>T	16	89349866	89349866	G	T	ANKRD11	c.3084C>A	NM_013275.6	NP_037407.4:p.(Tyr1028Ter)	NC_000016.9:g.89349866G>T	(Likely) pathogenic	1 lab	3383962ffe
7:92762645 SAMD9L G>T	7	92762645	92762645	G	T	SAMD9L	c.2640C>A	NM_152703.5	NP_689916.2:p.(His880Gln)	NC_000007.13:g.92762645G>T	(Likely) pathogenic	1 lab	338824dd5a
19:39005692 RYR1 C>T	19	39005692	39005692	C	T	RYR1	c.9499C>T	NM_000540.2	NP_000531.2:p.(Arg3167Ter)	NC_000019.9:g.39005692C>T	(Likely) pathogenic	1 lab	338a14c608
17:21319185 KCNJ12 T>A	17	21319185	21319185	T	A	KCNJ12				NC_000017.10:g.21319185T>A	(Likely) benign	1 lab	04a74ceab0
2:152432229 NEB T>C	2	152432229	152432229	T	C	NEB	c.11890A>G	NM_004543.4	NP_004534.2:p.(Asn3964Asp)	NC_000002.11:g.152432229T>C	(Likely) benign	1 lab	338b61b8d9
11:117866419 IL10RA T>C	11	117866419	117866419	T	C	IL10RA	c.804T>C	NM_001558.3	NP_001549.2:p.(Ser268=)	NC_000011.9:g.117866419T>C	(Likely) benign	1 lab	049f431559
12:120222771 CIT C>T	12	120222771	120222771	C	T	CIT				NC_000012.11:g.120222771C>T	VUS	1 lab	338dd0caab
2:32353475 SPAST A>C	2	32353475	32353475	A	C	SPAST	c.1174-2A>C	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32353475A>C	(Likely) pathogenic	1 lab	338f224318
14:58953863 KIAA0586 A>C	14	58953863	58953863	A	C	KIAA0586	c.3442A>C	NM_001244189.2	NP_001231118.1:p.(Lys1148Gln)	NC_000014.8:g.58953863A>C	(Likely) benign	1 lab	04a2101e1a
8:61769229 CHD7 A>G	8	61769229	61769229	A	G	CHD7	c.7390A>G	NM_017780.4	NP_060250.2:p.(Lys2464Glu)	NC_000008.10:g.61769229A>G	VUS	1 lab	33902b3823
8:141545641 AGO2 C>G	8	141545641	141545641	C	G	AGO2	c.2197G>C	NM_012154.3	NP_036286.2:p.(Gly733Arg)	NC_000008.10:g.141545641C>G	VUS	1 lab	33906472d0
2:228135471 COL4A3 T>G	2	228135471	228135471	T	G	COL4A3	c.1576-15T>G	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228135471T>G	(Likely) benign	1 lab	3391ccebef
9:131670550 LRRC8A G>C	9	131670550	131670550	G	C	LRRC8A	c.1107G>C	NM_019594.3	NP_062540.2:p.(Lys369Asn)	NC_000009.11:g.131670550G>C	VUS	1 lab	3395b2d5ce
20:42744600 JPH2 C>G	20	42744600	42744600	C	G	JPH2	c.1715G>C	NM_020433.5	NP_065166.2:p.(Arg572Pro)	NC_000020.10:g.42744600C>G	VUS	1 lab	339798ddfe
10:69934049 MYPN G>A	10	69934049	69934049	G	A	MYPN	c.2200G>A	NM_032578.3	NP_115967.2:p.(Ala734Thr)	NC_000010.10:g.69934049G>A	(Likely) benign	1 lab	3397ba2b05
17:42932016 EFTUD2 C>A	17	42932016	42932016	C	A	EFTUD2	c.2167G>T	NM_001258353.1	NP_001245282.1:p.(Asp723Tyr)	NC_000017.10:g.42932016C>A	VUS	1 lab	3398556b09
2:47672761 MSH2 C>T	2	47672761	47672761	C	T	MSH2	c.1351C>T	NM_000251.3	NP_000242.1:p.(Gln451Ter)	NC_000002.11:g.47672761C>T	(Likely) pathogenic	1 lab	339937afa1
7:83739799 SEMA3A C>A	7	83739799	83739799	C	A	SEMA3A	c.440G>T	NM_006080.2	NP_006071.1:p.(Gly147Val)	NC_000007.13:g.83739799C>A	VUS	1 lab	339ae888a9
1:94546283 ABCA4 A>G	1	94546283	94546283	A	G	ABCA4	c.859-9T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94546283A>G	(Likely) pathogenic	1 lab	339cb12fdf
13:20763595 GJB2 C>A	13	20763595	20763595	C	A	GJB2	c.126G>T	NM_004004.5	NP_003995.2:p.(Glu42Asp)	NC_000013.10:g.20763595C>A	VUS	1 lab	339d4724b2
8:41550210 ANK1 G>A	8	41550210	41550210	G	A	ANK1	c.3814C>T	NM_020476.2	NP_065209.2:p.(Gln1272Ter)	NC_000008.10:g.41550210G>A	(Likely) pathogenic	1 lab	339daea4c2
1:149895907 SF3B4 C>G	1	149895907	149895907	C	G	SF3B4				NC_000001.10:g.149895907C>G	(Likely) pathogenic	1 lab	339ddb0f19
1:197403938 CRB1 C>A	1	197403938	197403938	C	A	CRB1				NC_000001.10:g.197403938C>A	(Likely) pathogenic	1 lab	33a1c32d21
11:108199749 ATM C>T	11	108199749	108199749	C	T	ATM	c.7091C>T	NM_000051.4	NP_000042.3:p.(Ala2364Val)	NC_000011.9:g.108199749C>T	VUS	1 lab	33a22cfd12
1:228529860 OBSCN C>T	1	228529860	228529860	C	T	OBSCN	c.20946C>T	NM_001271223.2	NP_001258152.2:p.(Ala6982=)	NC_000001.10:g.228529860C>T	(Likely) benign	1 lab	33a317f23d
15:66996389 SMAD6 CA>C	15	66996389	66996390	CA	C	SMAD6	c.794del	NM_005585.4	NP_005576.3:p.(His265ProfsTer274)	NC_000015.9:g.66996390del	VUS	1 lab	33a3b4fbd5
11:67817691 TCIRG1 C>A	11	67817691	67817691	C	A	TCIRG1	c.2206C>A	NM_006019.4	NP_006010.2:p.(Arg736Ser)	NC_000011.9:g.67817691C>A	VUS	1 lab	33a4e1a1f1
7:91659208 AKAP9 G>T	7	91659208	91659208	G	T	AKAP9	c.4149-1G>T	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91659208G>T	VUS	1 lab	33a7213ef8
17:33445652 RAD51D C>G	17	33445652	33445652	C	G	RAD51D	c.145-14G>C	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33445652C>G	(Likely) benign	1 lab	33a7dc9a03
22:19753430 TBX1 G>A	22	19753430	19753430	G	A	TBX1	c.914G>A	NM_080647.1	NP_542378.1:p.(Arg305Gln)	NC_000022.10:g.19753430G>A	(Likely) benign	1 lab	33a7f8ce3f
6:87969918 ZNF292 C>T	6	87969918	87969918	C	T	ZNF292	c.6571C>T	NM_015021.3	NP_055836.1:p.(Gln2191Ter)	NC_000006.11:g.87969918C>T	(Likely) pathogenic	1 lab	33a847de29
19:15376242 BRD4 G>A	19	15376242	15376242	G	A	BRD4	c.772C>T	NM_058243.2	NP_490597.1:p.(Gln258Ter)	NC_000019.9:g.15376242G>A	VUS	1 lab	33a9727194
8:42698230 THAP1 T>G	8	42698230	42698230	T	G	THAP1	c.8A>C	NM_018105.2	NP_060575.1:p.(Gln3Pro)	NC_000008.10:g.42698230T>G	VUS	1 lab	33a9d54ff5
11:108206555 ATM G>A	11	108206555	108206555	G	A	ATM	c.8152-17G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108206555G>A	(Likely) benign	1 lab	33abbe0ea2
10:90774046 FAS C>A	10	90774046	90774046	C	A	FAS	c.847C>A	NM_000043.6	NP_000034.1:p.(Gln283Lys)	NC_000010.10:g.90774046C>A	(Likely) pathogenic	1 lab	33acbb845f
X:148571917 IDS C>T	X	148571917	148571917	C	T	IDS	c.934G>A	NM_000202.8	NP_000193.1:p.(Gly312Ser)	NC_000023.10:g.148571917C>T	VUS	1 lab	33b30330ef
16:23625324 PALB2 C>A	16	23625324	23625324	C	A	PALB2	c.3201+1G>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23625324C>A	(Likely) pathogenic	1 lab	33b4eb1fcb
15:63352092 TPM1 G>A	15	63352092	63352092	G	A	TPM1	c.492+213G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63352092G>A	(Likely) benign	1 lab	33b5940190
16:89352472 ANKRD11 G>T	16	89352472	89352472	G	T	ANKRD11	c.867C>A	NM_001256182.1	NP_001243111.1:p.(Tyr289Ter)	NC_000016.9:g.89352472G>T	(Likely) pathogenic	1 lab	33b7ac01f1
X:153296143 MECP2 G>T	X	153296143	153296143	G	T	MECP2	c.1172C>A	NM_001110792.2	NP_001104262.1:p.(Pro391His)	NC_000023.10:g.153296143G>T	(Likely) pathogenic	1 lab	33b98f4409
4:79387281 FRAS1 T>G	4	79387281	79387281	T	G	FRAS1	c.7030-81T>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79387281T>G	(Likely) benign	1 lab	04adb4d706
5:112175933 APC A>T	5	112175933	112175933	A	T	APC	c.4642A>T	NM_000038.5	NP_000029.2:p.(Asn1548Tyr)	NC_000005.9:g.112175933A>T	VUS	1 lab	33bf132a0a
2:32379538 SPAST C>G	2	32379538	32379538	C	G	SPAST	c.1824C>G	NM_014946.3	NP_055761.2:p.(Asn608Lys)	NC_000002.11:g.32379538C>G	VUS	1 lab	33ccfa353e
2:175619033 CHRNA1 C>T	2	175619033	175619033	C	T	CHRNA1	c.529G>A	NM_001039523.2	NP_001034612.1:p.(Val177Ile)	NC_000002.11:g.175619033C>T	VUS	1 lab	33cd4ecd4c
17:41267770 BRCA1 G>T	17	41267770	41267770	G	T	BRCA1	c.107C>A	NM_007294.3	NP_009225.1:p.(Ser36Tyr)	NC_000017.10:g.41267770G>T	VUS	1 lab	33ce5120fe
16:732217 STUB1 G>C	16	732217	732217	G	C	STUB1	c.722G>C	NM_005861.3	NP_005852.2:p.(Arg241Pro)	NC_000016.9:g.732217G>C	VUS	1 lab	3c90d6eaa9
13:32969015 BRCA2 G>C	13	32969015	32969015	G	C	BRCA2	c.9446G>C	NM_000059.3	NP_000050.2:p.(Ser3149Thr)	NC_000013.10:g.32969015G>C	(Likely) benign	1 lab	33d274892c
8:61735186 CHD7 A>G	8	61735186	61735186	A	G	CHD7				NC_000008.10:g.61735186A>G	(Likely) pathogenic	1 lab	33d2c7d5d5
11:71817140 LRTOMT G>A	11	71817140	71817140	G	A	LRTOMT	c.242G>A	NM_001145309.3	NP_001138781.1:p.(Arg81Gln)	NC_000011.9:g.71817140G>A	(Likely) pathogenic	1 lab	33d64c17c0
3:52486464 TNNC1 C>T	3	52486464	52486464	C	T	TNNC1	c.55+35G>A	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52486464C>T	(Likely) benign	1 lab	33d7ed1a40
5:180040141 FLT4 G>C	5	180040141	180040141	G	C	FLT4	c.3332-31C>G	NM_182925.4	NP_891555.2:p.?	NC_000005.9:g.180040141G>C	VUS	1 lab	33da07d6e9
16:81990482 PLCG2 G>A	16	81990482	81990482	G	A	PLCG2	c.3753G>A	NM_002661.3	NP_002652.2:p.(Lys1251=)	NC_000016.9:g.81990482G>A	(Likely) benign	1 lab	04ae36a32c
13:23904883 SACS G>A	13	23904883	23904883	G	A	SACS	c.13132C>T	NM_014363.4	NP_055178.3:p.(Arg4378Ter)	NC_000013.10:g.23904883G>A	(Likely) pathogenic	1 lab	33e18dd670
5:149357509 SLC26A2 G>A	5	149357509	149357509	G	A	SLC26A2	c.294G>A	NM_000112.3	NP_000103.2:p.(Trp98Ter)	NC_000005.9:g.149357509G>A	(Likely) pathogenic	1 lab	33e1faa2e2
7:158528233 ESYT2 A>G	7	158528233	158528233	A	G	ESYT2	c.2547T>C	NM_020728.2	NP_065779.1:p.(Ser849=)	NC_000007.13:g.158528233A>G	(Likely) benign	1 lab	33e4820ae3
6:75866063 COL12A1 G>A	6	75866063	75866063	G	A	COL12A1	c.3160C>T	NM_004370.5	NP_004361.3:p.(Arg1054Ter)	NC_000006.11:g.75866063G>A	(Likely) pathogenic	1 lab	33e6333370
1:116268182 CASQ2 A>T	1	116268182	116268182	A	T	CASQ2	c.738-8T>A	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268182A>T	(Likely) benign	1 lab	33e73aef08
3:49760508 GMPPB G>A	3	49760508	49760508	G	A	GMPPB	c.299C>T	NM_013334.3	NP_037466.2:p.(Thr100Ile)	NC_000003.11:g.49760508G>A	VUS	1 lab	33ebab9e51
9:2729686 KCNV2 C>G	9	2729686	2729686	C	G	KCNV2	c.1597C>G	NM_133497.3	NP_598004.1:p.(Leu533Val)	NC_000009.11:g.2729686C>G	(Likely) benign	1 lab	33efc9cd54
10:12160839 DHTKD1 A>G	10	12160839	12160839	A	G	DHTKD1	c.2494A>G	NM_018706.7	NP_061176.4:p.(Ile832Val)	NC_000010.10:g.12160839A>G	(Likely) benign	1 lab	33f0d1c1ce
1:228481228 OBSCN T>A	1	228481228	228481228	T	A	OBSCN	c.12329T>A	NM_001271223.2	NP_001258152.2:p.(Leu4110Gln)	NC_000001.10:g.228481228T>A	VUS	1 lab	33f117e023
10:123241798 FGFR2 CC>AA	10	123241798	123241799	CC	AA	FGFR2	c.2301+1413_2301+1414delinsTT	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123241798_123241799delinsAA	VUS	1 lab	33f218949c
2:32366987 SPAST G>A	2	32366987	32366987	G	A	SPAST	c.1508G>A	NM_014946.4	NP_055761.2:p.(Arg503Gln)	NC_000002.11:g.32366987G>A	VUS	1 lab	33f3378745
7:128482427 FLNC G>A	7	128482427	128482427	G	A	FLNC	c.2264G>A	NM_001458.5	NP_001449.3:p.(Arg755Gln)	NC_000007.13:g.128482427G>A	VUS	1 lab	33f76aa685
3:184039591 EIF4G1 G>A	3	184039591	184039591	G	A	EIF4G1	c.1219G>A	NM_182917.4	NP_886553.3:p.(Ala407Thr)	NC_000003.11:g.184039591G>A	VUS	1 lab	33f7a684a7
17:60689765 TLK2 C>T	17	60689765	60689765	C	T	TLK2	c.2092C>T	NM_006852.3	NP_006843.2:p.(Arg698Ter)	NC_000017.10:g.60689765C>T	(Likely) pathogenic	1 lab	33f9b4b665
11:119217311 MFRP G>A	11	119217311	119217311	G	A	MFRP	c.-88C>T	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119217311G>A	(Likely) benign	1 lab	33fa048745
1:10042426 NMNAT1 G>A	1	10042426	10042426	G	A	NMNAT1	c.507G>A	NM_022787.3	NP_073624.2:p.(Trp169Ter)	NC_000001.10:g.10042426G>A	(Likely) pathogenic	1 lab	33fc59cbce
16:89349673 ANKRD11 C>T	16	89349673	89349673	C	T	ANKRD11	c.3277G>A	NM_001256182.1	NP_001243111.1:p.(Gly1093Arg)	NC_000016.9:g.89349673C>T	VUS	1 lab	33fc8386e4
2:48950671 LHCGR C>T	2	48950671	48950671	C	T	LHCGR	c.460G>A	NM_000233.3	NP_000224.2:p.(Glu154Lys)	NC_000002.11:g.48950671C>T	VUS	1 lab	33fdd10134
1:94564531 ABCA4 G>A	1	94564531	94564531	G	A	ABCA4	c.587C>T	NM_000350.2	NP_000341.2:p.(Pro196Leu)	NC_000001.10:g.94564531G>A	VUS	1 lab	34008954cc
6:26092865 HFE C>T	6	26092865	26092865	C	T	HFE	c.617-48C>T	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26092865C>T	VUS	1 lab	3c2abdaf0d
14:102445729 DYNC1H1 C>A	14	102445729	102445729	C	A	DYNC1H1	c.418C>A	NM_001376.4	NP_001367.2:p.(Leu140Ile)	NC_000014.8:g.102445729C>A	VUS	1 lab	342900d866
3:52438481 BAP1 T>G	3	52438481	52438481	T	G	BAP1	c.1238A>C	NM_004656.4	NP_004647.1:p.(Asn413Thr)	NC_000003.11:g.52438481T>G	(Likely) benign	1 lab	34025d7212
17:78081415 GAA C>T	17	78081415	78081415	C	T	GAA	c.752C>T	NM_000152.4	NP_000143.2:p.(Ser251Leu)	NC_000017.10:g.78081415C>T	VUS	1 lab	340716b99f
8:144943383 EPPK1 C>T	8	144943383	144943383	C	T	EPPK1				NC_000008.10:g.144943383C>T	VUS	1 lab	3409d2d8f5
X:48933234 WDR45 C>T	X	48933234	48933234	C	T	WDR45	c.695G>A	NM_001029896.2	NP_001025067.1:p.(Arg232His)	NC_000023.10:g.48933234C>T	(Likely) pathogenic	1 lab	340d20e921
7:23205386 KLHL7 A>C	7	23205386	23205386	A	C	KLHL7	c.1006A>C	NM_001031710.3	NP_001026880.2:p.(Asn336His)	NC_000007.13:g.23205386A>C	VUS	1 lab	3412aa9d85
13:111117890 COL4A2 G>A	13	111117890	111117890	G	A	COL4A2	c.1915G>A	NM_001846.4	NP_001837.2:p.(Gly639Ser)	NC_000013.10:g.111117890G>A	VUS	1 lab	341461f21b
1:201330449 TNNT2 C>T	1	201330449	201330449	C	T	TNNT2	c.738G>A	NM_001001430.2	NP_001001430.1:p.(Glu246=)	NC_000001.10:g.201330449C>T	(Likely) benign	1 lab	341875d38f
12:2595429 CACNA1C G>A	12	2595429	2595429	G	A	CACNA1C	c.916+1G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2595429G>A	VUS	1 lab	341b746ba7
11:76910600 MYO7A C>T	11	76910600	76910600	C	T	MYO7A	c.4589C>T	NM_000260.3	NP_000251.3:p.(Ser1530Leu)	NC_000011.9:g.76910600C>T	(Likely) benign	1 lab	34202ceb9f
13:95121278 DCT C>T	13	95121278	95121278	C	T	DCT	c.317G>A	NM_001922.5	NP_001913.2:p.(Cys106Tyr)	NC_000013.10:g.95121278C>T	VUS	1 lab	34213a8b65
17:1657459 SERPINF2 C>T	17	1657459	1657459	C	T	SERPINF2	c.1107C>T	NM_000934.4	NP_000925.2:p.(Ser369=)	NC_000017.10:g.1657459C>T	(Likely) benign	1 lab	34222d9577
3:38793669 SCN10A GGA>G	3	38793669	38793671	GGA	G	SCN10A	c.1755+39_1755+40del	NM_006514.2	NP_006505.2:p.?	NC_000003.11:g.38793670_38793671del	VUS	1 lab	34230e0cb3
18:29104854 DSG2 A>G	18	29104854	29104854	A	G	DSG2	c.1014+3A>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29104854A>G	VUS	1 lab	04af3cd04b
6:31832657 SLC44A4 C>T	6	31832657	31832657	C	T	SLC44A4	c.1862G>A	NM_025257.2	NP_079533.2:p.(Arg621His)	NC_000006.11:g.31832657C>T	VUS	1 lab	342f7d1096
16:1500663 CLCN7 G>C	16	1500663	1500663	G	C	CLCN7	c.1452C>G	NM_001287.5	NP_001278.1:p.(Ser484=)	NC_000016.9:g.1500663G>C	(Likely) benign	1 lab	343380e013
18:29127080 DSG2 T>C	18	29127080	29127080	T	C	DSG2	c.*374T>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29127080T>C	(Likely) benign	1 lab	343558e3d0
6:30632600 DHX16 A>T	6	30632600	30632600	A	T	DHX16	c.1295T>A	NM_003587.4	NP_003578.2:p.(Ile432Asn)	NC_000006.11:g.30632600A>T	(Likely) benign	1 lab	34363d63fa
11:3988904 STIM1 A>G	11	3988904	3988904	A	G	STIM1	c.262A>G	NM_003156.3	NP_003147.2:p.(Ser88Gly)	NC_000011.9:g.3988904A>G	(Likely) pathogenic	1 lab	343815d163
12:32949103 PKP2 G>C	12	32949103	32949103	G	C	PKP2	c.2429C>G	NM_004572.3	NP_004563.2:p.(Ala810Gly)	NC_000012.11:g.32949103G>C	VUS	1 lab	343bcfc4e8
6:32007220 CYP21A2 G>A	6	32007220	32007220	G	A	CYP21A2	c.535G>A	NM_000500.7	NP_000491.4:p.(Gly179Arg)	NC_000006.11:g.32007220G>A	(Likely) pathogenic	1 lab	343d549982
17:59761494 BRIP1 T>C	17	59761494	59761494	T	C	BRIP1	c.2913A>G	NM_032043.3	NP_114432.2:p.(Pro971=)	NC_000017.10:g.59761494T>C	(Likely) benign	1 lab	343ebed3ec
19:12958114 MAST1 C>T	19	12958114	12958114	C	T	MAST1	c.338C>T	NM_014975.3	NP_055790.1:p.(Ser113Phe)	NC_000019.9:g.12958114C>T	VUS	1 lab	3441e8cbc9
5:148407574 SH3TC2 T>C	5	148407574	148407574	T	C	SH3TC2	c.1721A>G	NM_024577.4	NP_078853.2:p.(Asn574Ser)	NC_000005.9:g.148407574T>C	VUS	1 lab	3442fdfada
6:33405881 SYNGAP1 T>G	6	33405881	33405881	T	G	SYNGAP1				NC_000006.11:g.33405881T>G	VUS	1 lab	3443d968e9
5:1063998 SLC12A7 G>A	5	1063998	1063998	G	A	SLC12A7	c.2700C>T	NM_006598.2	NP_006589.2:p.(Tyr900=)	NC_000005.9:g.1063998G>A	(Likely) benign	1 lab	34443c4c40
3:39228974 XIRP1 C>A	3	39228974	39228974	C	A	XIRP1	c.1963G>T	NM_194293.4	NP_919269.2:p.(Glu655Ter)	NC_000003.11:g.39228974C>A	(Likely) pathogenic	1 lab	04b12f3bec
12:80645498 OTOGL C>T	12	80645498	80645498	C	T	OTOGL	c.1051C>T	NM_173591.3	NP_775862.3:p.(Arg351Ter)	NC_000012.11:g.80645498C>T	(Likely) pathogenic	1 lab	344ffa2d70
11:108139269 ATM G>A	11	108139269	108139269	G	A	ATM	c.2771G>A	NM_000051.3	NP_000042.3:p.(Arg924Gln)	NC_000011.9:g.108139269G>A	(Likely) benign	1 lab	346f7aa908
1:161140446 PPOX G>GATAGTGGCTGTGT	1	161140446	161140447	G	GATAGTGGCTGTGT	PPOX	c.1135_1136insATAGTGGCTGTGT	NM_001122764.3	NP_001116236.1:p.(Ala379AspfsTer6)	NC_000001.10:g.161140446_161140447insATAGTGGCTGTGT	(Likely) pathogenic	1 lab	3453c89a0a
2:39250284 SOS1 T>C	2	39250284	39250284	T	C	SOS1	c.1285A>G	NM_005633.3	NP_005624.2:p.(Ile429Val)	NC_000002.11:g.39250284T>C	VUS	1 lab	3456c63370
10:102778621 PDZD7 G>A	10	102778621	102778621	G	A	PDZD7				NC_000010.10:g.102778621G>A	VUS	1 lab	34591f09c9
X:68059585 EFNB1 T>G	X	68059585	68059585	T	G	EFNB1	c.485T>G	NM_004429.5	NP_004420.1:p.(Met162Arg)	NC_000023.10:g.68059585T>G	(Likely) pathogenic	1 lab	345b28422c
1:201342395 TNNT2 C>T	1	201342395	201342395	C	T	TNNT2	c.-13G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201342395C>T	(Likely) benign	1 lab	345bae6503
X:53277303 IQSEC2 C>CT	X	53277303	53277305	C	CT	IQSEC2	c.2574dup	NM_001111125.3	NP_001104595.1:p.(Ala859SerfsTer10)	NC_000023.10:g.53277305dup	(Likely) pathogenic	1 lab	345e192b44
1:154544648 CHRNB2 C>T	1	154544648	154544648	C	T	CHRNB2	c.1338+11C>T	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154544648C>T	(Likely) benign	1 lab	04b27dab99
7:154585805 MISSING A>C	7	154585805	154585805	A	C	MISSING				NC_000007.13:g.154585805A>C	VUS	1 lab	34633a1050
6:76566886 MYO6 T>G	6	76566886	76566886	T	G	MYO6	c.1296T>G	NM_004999.3	NP_004990.3:p.(Phe432Leu)	NC_000006.11:g.76566886T>G	VUS	1 lab	3463dcccd4
3:38519775 ACVR2B A>C	3	38519775	38519775	A	C	ACVR2B	c.514A>C	NM_001106.3	NP_001097.2:p.(Ile172Leu)	NC_000003.11:g.38519775A>C	VUS	1 lab	34670228cc
1:169446640 SLC19A2 AGCGACCAGCCTGCCACT>A	1	169446640	169446658	AGCGACCAGCCTGCCACT	A	SLC19A2	c.543_559del	NM_006996.3	NP_008927.1:p.(Ala183GlnfsTer52)	NC_000001.10:g.169446642_169446658del	(Likely) pathogenic	1 lab	34692d7b00
2:86509300 REEP1 T>A	2	86509300	86509300	T	A	REEP1	c.98A>T	NM_022912.2	NP_075063.1:p.(Lys33Met)	NC_000002.11:g.86509300T>A	VUS	1 lab	3469bc149e
2:167301419 SCN7A T>C	2	167301419	167301419	T	C	SCN7A	c.1479A>G	NM_002976.4	NP_002967.2:p.(Lys493=)	NC_000002.11:g.167301419T>C	(Likely) benign	1 lab	346d3f8ac5
11:76893151 MYO7A G>A	11	76893151	76893151	G	A	MYO7A	c.3059G>A	NM_000260.3	NP_000251.3:p.(Arg1020Gln)	NC_000011.9:g.76893151G>A	VUS	1 lab	346dca20ba
12:111348718 MYL2 A>G	12	111348718	111348718	A	G	MYL2	c.*163T>C	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348718A>G	(Likely) benign	1 lab	346e0ceec8
1:94548931 ABCA4 CA>C	1	94548931	94548932	CA	C	ABCA4	c.834del	NM_000350.2	NP_000341.2:p.(Asp279IlefsTer21)	NC_000001.10:g.94548932del	(Likely) pathogenic	1 lab	347264a094
15:85411416 ALPK3 A>G	15	85411416	85411416	A	G	ALPK3	c.5453A>G	NM_020778.4	NP_065829.3:p.(Tyr1818Cys)	NC_000015.9:g.85411416A>G	VUS	1 lab	347436351b
9:129455873 LMX1B G>A	9	129455873	129455873	G	A	LMX1B	c.812G>A	NM_002316.3	NP_002307.2:p.(Arg271Lys)	NC_000009.11:g.129455873G>A	(Likely) pathogenic	1 lab	3478844b5d
3:38835361 SCN10A T>G	3	38835361	38835361	T	G	SCN10A	c.141A>C	NM_006514.4	NP_006505.4:p.(Gln47His)	NC_000003.11:g.38835361T>G	(Likely) benign	1 lab	3478956a58
1:103483358 COL11A1 T>A	1	103483358	103483358	T	A	COL11A1	c.1413+18A>T	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103483358T>A	(Likely) benign	1 lab	3478e2b29d
6:87965464 ZNF292 A>T	6	87965464	87965464	A	T	ZNF292	c.2117A>T	NM_015021.2	NP_055836.1:p.(Lys706Ile)	NC_000006.11:g.87965464A>T	VUS	1 lab	347a7a47a0
8:87656916 CNGB3 T>G	8	87656916	87656916	T	G	CNGB3	c.991-2A>C	NM_019098.4	NP_061971.3:p.?	NC_000008.10:g.87656916T>G	(Likely) pathogenic	1 lab	347f8b5cae
14:75509136 MLH3 GA>G	14	75509136	75509138	GA	G	MLH3	c.3324del	NM_001040108.2	NP_001035197.1:p.(Pro1109LeufsTer12)	NC_000014.8:g.75509138del	(Likely) pathogenic	1 lab	04b5ffcb66
17:56780626 RAD51C G>A	17	56780626	56780626	G	A	RAD51C	c.641G>A	NM_058216.2	NP_478123.1:p.(Arg214His)	NC_000017.10:g.56780626G>A	(Likely) benign	1 lab	348233a5bc
16:31497593 SLC5A2 A>C	16	31497593	31497593	A	C	SLC5A2	c.571A>C	NM_003041.3	NP_003032.1:p.(Thr191Pro)	NC_000016.9:g.31497593A>C	VUS	1 lab	3484a8f04a
7:117267672 CFTR A>G	7	117267672	117267672	A	G	CFTR	c.3565A>G	NM_000492.3	NP_000483.3:p.(Lys1189Glu)	NC_000007.13:g.117267672A>G	(Likely) benign	1 lab	04bcaec16c
15:44905627 SPG11 C>T	15	44905627	44905627	C	T	SPG11	c.3145+1G>A	NM_025137.3	NP_079413.3:p.?	NC_000015.9:g.44905627C>T	(Likely) pathogenic	1 lab	348ba12da8
2:179396497 TTN G>A	2	179396497	179396497	G	A	TTN	c.104845C>T	NM_001267550.2	NP_001254479.2:p.(Arg34949Cys)	NC_000002.11:g.179396497G>A	VUS	1 lab	348bafcdf8
18:31325238 ASXL3 G>C	18	31325238	31325238	G	C	ASXL3	c.5426G>C	NM_030632.3	NP_085135.1:p.(Gly1809Ala)	NC_000018.9:g.31325238G>C	VUS	1 lab	348dbc0a89
3:38627291 SCN5A C>T	3	38627291	38627291	C	T	SCN5A	c.2678G>A	NM_198056.2	NP_932173.1:p.(Arg893His)	NC_000003.11:g.38627291C>T	(Likely) pathogenic	1 lab	348e35cc05
22:38379446 SOX10 G>C	22	38379446	38379446	G	C	SOX10	c.346C>G	NM_006941.3	NP_008872.1:p.(Gln116Glu)	NC_000022.10:g.38379446G>C	(Likely) pathogenic	1 lab	348f28030b
5:112174929 APC C>A	5	112174929	112174929	C	A	APC	c.3638C>A	NM_000038.6	NP_000029.2:p.(Ser1213Ter)	NC_000005.9:g.112174929C>A	(Likely) pathogenic	1 lab	348f80e613
2:37374829 EIF2AK2 A>C	2	37374829	37374829	A	C	EIF2AK2	c.119+2T>G	NM_002759.3	NP_002750.1:p.?	NC_000002.11:g.37374829A>C	(Likely) benign	1 lab	348f81dd7d
5:149775942 TCOF1 C>T	5	149775942	149775942	C	T	TCOF1	c.3879C>T	NM_001135243.1	NP_001128715.1:p.(Ser1293=)	NC_000005.9:g.149775942C>T	(Likely) benign	1 lab	3494caac4e
X:153171564 AVPR2 C>T	X	153171564	153171564	C	T	AVPR2	c.604C>T	NM_000054.4	NP_000045.1:p.(Arg202Cys)	NC_000023.10:g.153171564C>T	(Likely) pathogenic	1 lab	3495545cb2
7:98515223 TRRAP C>T	7	98515223	98515223	C	T	TRRAP	c.2543C>T	NM_001375524.1	NP_001362453.1:p.(Thr848Met)	NC_000007.13:g.98515223C>T	VUS	1 lab	3495b3d6cf
9:133755889 ABL1 G>A	9	133755889	133755889	G	A	ABL1	c.1573G>A	NM_007313.2	NP_009297.2:p.(Val525Met)	NC_000009.11:g.133755889G>A	VUS	1 lab	3497ef1bb1
X:111097121 TRPC5 C>A	X	111097121	111097121	C	A	TRPC5	c.1114G>T	NM_012471.2	NP_036603.1:p.(Ala372Ser)	NC_000023.10:g.111097121C>A	VUS	1 lab	3499191fee
8:20077887 ATP6V1B2 T>G	8	20077887	20077887	T	G	ATP6V1B2	c.1510T>G	NM_001693.4	NP_001684.2:p.(Tyr504Asp)	NC_000008.10:g.20077887T>G	(Likely) pathogenic	1 lab	349aebe01f
15:35085567 ACTC1 C>T	15	35085567	35085567	C	T	ACTC1	c.333G>A	NM_005159.4	NP_005150.1:p.(Pro111=)	NC_000015.9:g.35085567C>T	(Likely) benign	1 lab	34a6f42403
7:98557021 TRRAP T>C	7	98557021	98557021	T	C	TRRAP	c.6322T>C	NM_003496.3	NP_003487.1:p.(Cys2108Arg)	NC_000007.13:g.98557021T>C	VUS	1 lab	34a88854e7
6:42672351 PRPH2 T>A	6	42672351	42672351	T	A	PRPH2	c.582-2A>T	NM_000322.4	NP_000313.2:p.?	NC_000006.11:g.42672351T>A	(Likely) pathogenic	1 lab	34ab41b1cf
16:81242102 PKD1L2 G>A	16	81242102	81242102	G	A	PKD1L2	c.754C>T	NM_001076780.1	NP_001070248.1:p.(Arg252Trp)	NC_000016.9:g.81242102G>A	(Likely) benign	1 lab	34ae7671cd
18:19752128 GATA6 G>C	18	19752128	19752128	G	C	GATA6	c.1023G>C	NM_005257.5	NP_005248.2:p.(Val341=)	NC_000018.9:g.19752128G>C	(Likely) benign	1 lab	34b17acf13
2:145147448 ZEB2 T>C	2	145147448	145147448	T	C	ZEB2	c.3215A>G	NM_014795.3	NP_055610.1:p.(Gln1072Arg)	NC_000002.11:g.145147448T>C	(Likely) pathogenic	1 lab	34b674d065
15:73660441 HCN4 G>GGAGGGC	15	73660441	73660453	G	GGAGGGC	HCN4	c.165_170dup	NM_005477.3	NP_005468.1:p.(Pro58_Ser59dup)	NC_000015.9:g.73660448_73660453dup	VUS	1 lab	34b6afee3c
2:179438627 TTN T>C	2	179438627	179438627	T	C	TTN	c.72232A>G	NM_001267550.2	NP_001254479.2:p.(Ile24078Val)	NC_000002.11:g.179438627T>C	VUS	1 lab	34bc0b1f3c
5:134367091 PITX1 G>A	5	134367091	134367091	G	A	PITX1	c.277C>T	NM_002653.4	NP_002644.4:p.(Arg93Cys)	NC_000005.9:g.134367091G>A	(Likely) pathogenic	1 lab	34be86053b
1:112524420 KCND3 A>G	1	112524420	112524420	A	G	KCND3	c.929T>C	NM_004980.4	NP_004971.2:p.(Leu310Pro)	NC_000001.10:g.112524420A>G	VUS	1 lab	34c6458824
12:6131172 VWF A>G	12	6131172	6131172	A	G	VWF	c.3568T>C	NM_000552.3	NP_000543.2:p.(Cys1190Arg)	NC_000012.11:g.6131172A>G	(Likely) pathogenic	1 lab	34c938c08a
6:35773758 LHFPL5 G>A	6	35773758	35773758	G	A	LHFPL5	c.311G>A	NM_182548.3	NP_872354.1:p.(Gly104Asp)	NC_000006.11:g.35773758G>A	VUS	1 lab	34cfaec3c5
2:211469818 CPS1 A>G	2	211469818	211469818	A	G	CPS1	c.1855-8A>G	NM_001122633.2	NP_001116105.1:p.?	NC_000002.11:g.211469818A>G	(Likely) pathogenic	1 lab	34d22d2eaf
2:209200052 PIKFYVE G>A	2	209200052	209200052	G	A	PIKFYVE	c.4165G>A	NM_015040.3	NP_055855.2:p.(Glu1389Lys)	NC_000002.11:g.209200052G>A	(Likely) benign	1 lab	34d6225fa7
17:41244664 BRCA1 C>T	17	41244664	41244664	C	T	BRCA1	c.2884G>A	NM_007294.3	NP_009225.1:p.(Glu962Lys)	NC_000017.10:g.41244664C>T	VUS	1 lab	34d99d55c1
10:21120469 NEBL C>T	10	21120469	21120469	C	T	NEBL	c.1493G>A	NM_006393.2	NP_006384.1:p.(Gly498Glu)	NC_000010.10:g.21120469C>T	(Likely) pathogenic	1 lab	34dcc50a94
2:179429554 TTN G>A	2	179429554	179429554	G	A	TTN	c.81305C>T	NM_001267550.2	NP_001254479.2:p.(Thr27102Ile)	NC_000002.11:g.179429554G>A	(Likely) benign	1 lab	34dd9b3c06
15:26866543 GABRB3 T>C	15	26866543	26866543	T	C	GABRB3	c.379A>G	NM_000814.6	NP_000805.1:p.(Lys127Glu)	NC_000015.9:g.26866543T>C	(Likely) pathogenic	1 lab	34e1c9bfa4
8:38285617 FGFR1 C>T	8	38285617	38285617	C	T	FGFR1	c.449-6G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38285617C>T	(Likely) pathogenic	1 lab	34e2c985e4
20:42745019 JPH2 T>C	20	42745019	42745019	T	C	JPH2	c.1296A>G	NM_020433.4	NP_065166.2:p.(Glu432=)	NC_000020.10:g.42745019T>C	(Likely) benign	1 lab	34efc4329f
7:92763408 SAMD9L G>A	7	92763408	92763408	G	A	SAMD9L	c.1877C>T	NM_152703.4	NP_689916.2:p.(Ser626Leu)	NC_000007.13:g.92763408G>A	VUS	1 lab	34efd45f48
3:151154722 IGSF10 C>G	3	151154722	151154722	C	G	IGSF10	c.7627G>C	NM_178822.5	NP_849144.2:p.(Gly2543Arg)	NC_000003.11:g.151154722C>G	VUS	1 lab	34f4af83f2
8:102571023 GRHL2 A>T	8	102571023	102571023	A	T	GRHL2	c.661A>T	NM_024915.3	NP_079191.2:p.(Lys221Ter)	NC_000008.10:g.102571023A>T	(Likely) pathogenic	1 lab	3504805322
X:80001067 BRWD3 C>T	X	80001067	80001067	C	T	BRWD3	c.591+1G>A	NM_153252.4	NP_694984.4:p.?	NC_000023.10:g.80001067C>T	(Likely) pathogenic	1 lab	35057260fd
18:10857056 PIEZO2 C>T	18	10857056	10857056	C	T	PIEZO2	c.646G>A	NM_022068.3	NP_071351.2:p.(Gly216Ser)	NC_000018.9:g.10857056C>T	VUS	1 lab	350629bfce
19:13411532 CACNA1A G>C	19	13411532	13411532	G	C	CACNA1A	c.2185-62C>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13411532G>C	(Likely) benign	1 lab	04bf48d47c
6:7572244 DSP C>T	6	7572244	7572244	C	T	DSP	c.2073C>T	NM_004415.2	NP_004406.2:p.(Leu691=)	NC_000006.11:g.7572244C>T	(Likely) benign	1 lab	35069118d1
17:32964437 TMEM132E C>G	17	32964437	32964437	C	G	TMEM132E	c.2411C>G	NM_001304438.2	NP_001291367.1:p.(Thr804Arg)	NC_000017.10:g.32964437C>G	VUS	1 lab	35074c201b
1:16269589 ZBTB17 C>T	1	16269589	16269589	C	T	ZBTB17	c.1798G>A	NM_001287603.1	NP_001274532.1:p.(Asp600Asn)	NC_000001.10:g.16269589C>T	VUS	1 lab	3507cdaafb
16:16256975 ABCC6 C>T	16	16256975	16256975	C	T	ABCC6	c.3381G>A	NM_001171.6	NP_001162.5:p.(Met1127Ile)	NC_000016.9:g.16256975C>T	VUS	1 lab	350ca1e386
2:179597615 TTN G>A	2	179597615	179597615	G	A	TTN	c.12556C>T	NM_133378.4	NP_596869.4:p.(Arg4186Ter)	NC_000002.11:g.179597615G>A	(Likely) pathogenic	1 lab	350e279339
10:72201413 NODAL T>C	10	72201413	72201413	T	C	NODAL	c.11A>G	NM_018055.4	NP_060525.3:p.(His4Arg)	NC_000010.10:g.72201413T>C	(Likely) benign	1 lab	3512380d80
11:128781278 KCNJ5 C>T	11	128781278	128781278	C	T	KCNJ5	c.110C>T	NM_000890.5	NP_000881.3:p.(Thr37Ile)	NC_000011.9:g.128781278C>T	VUS	1 lab	35160a3dbe
2:179543520 TTN T>C	2	179543520	179543520	T	C	TTN	c.33780A>G	NM_001267550.2	NP_001254479.2:p.(Lys11260=)	NC_000002.11:g.179543520T>C	VUS	1 lab	3516a19dae
1:94463499 ABCA4 G>A	1	94463499	94463499	G	A	ABCA4	c.6647C>T	NM_000350.2	NP_000341.2:p.(Ala2216Val)	NC_000001.10:g.94463499G>A	(Likely) pathogenic	1 lab	351a5126c5
6:133804184 EYA4 G>A	6	133804184	133804184	G	A	EYA4	c.1122G>A	NM_004100.5	NP_004091.3:p.(Trp374Ter)	NC_000006.11:g.133804184G>A	(Likely) pathogenic	1 lab	35204fa0ea
17:59853785 BRIP1 A>G	17	59853785	59853785	A	G	BRIP1	c.2074T>C	NM_032043.3	NP_114432.2:p.(Leu692=)	NC_000017.10:g.59853785A>G	(Likely) benign	1 lab	35221511b8
1:152287213 FLG T>C	1	152287213	152287213	T	C	FLG	c.149A>G	NM_002016.1	NP_002007.1:p.(Asp50Gly)	NC_000001.10:g.152287213T>C	(Likely) benign	1 lab	35228f23c7
2:166020189 SCN3A A>G	2	166020189	166020189	A	G	SCN3A	c.633T>C	NM_006922.4	NP_008853.3:p.(Asn211=)	NC_000002.11:g.166020189A>G	(Likely) benign	1 lab	3524fd772b
X:53970686 PHF8 A>C	X	53970686	53970686	A	C	PHF8	c.2648-10T>G	NM_001184896.1	NP_001171825.1:p.?	NC_000023.10:g.53970686A>C	(Likely) benign	1 lab	352624a7ee
1:46661505 POMGNT1 C>A	1	46661505	46661505	C	A	POMGNT1	c.512G>T	NM_017739.3	NP_060209.3:p.(Arg171Leu)	NC_000001.10:g.46661505C>A	VUS	1 lab	35269506f1
7:44179449 MYL7 G>A	7	44179449	44179449	G	A	MYL7	c.309C>T	NM_021223.2	NP_067046.1:p.(Pro103=)	NC_000007.13:g.44179449G>A	(Likely) benign	1 lab	35281061b7
1:45295283 PTCH2 G>A	1	45295283	45295283	G	A	PTCH2	c.1083+3C>T	NM_003738.5	NP_003729.3:p.?	NC_000001.10:g.45295283G>A	VUS	1 lab	3529a369d1
6:32008476 CYP21A2 GTCA>G	6	32008476	32008483	GTCA	G	CYP21A2	c.1155_1157del	NM_000500.7	NP_000491.4:p.(Ile386del)	NC_000006.11:g.32008481_32008483del	(Likely) pathogenic	1 lab	352c3d1954
3:124458926 UMPS A>G	3	124458926	124458926	A	G	UMPS	c.1038A>G	NM_000373.3	NP_000364.1:p.(Pro346=)	NC_000003.11:g.124458926A>G	(Likely) benign	1 lab	3532b4e102
3:165491308 BCHE A>G	3	165491308	165491308	A	G	BCHE	c.1685-14T>C	NM_000055.4	NP_000046.1:p.?	NC_000003.11:g.165491308A>G	(Likely) benign	1 lab	3536a6297d
4:68619782 GNRHR G>A	4	68619782	68619782	G	A	GNRHR	c.272C>T	NM_000406.2	NP_000397.1:p.(Thr91Ile)	NC_000004.11:g.68619782G>A	(Likely) pathogenic	1 lab	3536d19f68
2:179588603 TTN C>T	2	179588603	179588603	C	T	TTN	c.21383G>A	NM_001267550.2	NP_001254479.2:p.(Arg7128His)	NC_000002.11:g.179588603C>T	(Likely) benign	1 lab	35383b5f3a
2:166848446 SCN1A A>G	2	166848446	166848446	A	G	SCN1A	c.5339T>C	NM_001165963.4	NP_001159435.1:p.(Met1780Thr)	NC_000002.11:g.166848446A>G	(Likely) pathogenic	1 lab	3538d559bc
15:48539663 SLC12A1 T>G	15	48539663	48539663	T	G	SLC12A1	c.1684+6T>G	NM_000338.3	NP_000329.2:p.?	NC_000015.9:g.48539663T>G	VUS	1 lab	3538e2cd1a
3:37092258 MLH1 A>G	3	37092258	37092258	A	G	MLH1	c.*114A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37092258A>G	(Likely) benign	1 lab	353908050f
2:166243481 SCN2A G>A	2	166243481	166243481	G	A	SCN2A	c.4777G>A	NM_021007.2	NP_066287.2:p.(Gly1593Arg)	NC_000002.11:g.166243481G>A	(Likely) pathogenic	1 lab	35399b0019
2:189856233 COL3A1 C>T	2	189856233	189856233	C	T	COL3A1	c.873C>T	NM_000090.3	NP_000081.1:p.(Gly291=)	NC_000002.11:g.189856233C>T	VUS	1 lab	353a62a9b5
12:133233705 POLE T>C	12	133233705	133233705	T	C	POLE	c.3582+17A>G	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133233705T>C	(Likely) benign	1 lab	353c806d54
1:6659353 KLHL21 C>T	1	6659353	6659353	C	T	KLHL21	c.1181G>A	NM_014851.2	NP_055666.2:p.(Arg394His)	NC_000001.10:g.6659353C>T	VUS	1 lab	353d6b9ecb
1:21887655 ALPL G>T	1	21887655	21887655	G	T	ALPL	c.247G>T	NM_000478.5	NP_000469.3:p.(Glu83Ter)	NC_000001.10:g.21887655G>T	(Likely) pathogenic	1 lab	353e44fa67
8:38273417 FGFR1 G>A	8	38273417	38273417	G	A	FGFR1	c.1825C>T	NM_023110.2	NP_075598.2:p.(Arg609Ter)	NC_000008.10:g.38273417G>A	(Likely) pathogenic	1 lab	35409d5f9c
10:104416804 TRIM8 C>T	10	104416804	104416804	C	T	TRIM8	c.1349C>T	NM_030912.3	NP_112174.2:p.(Ser450Phe)	NC_000010.10:g.104416804C>T	VUS	1 lab	354134ac8c
19:39212221 ACTN4 A>G	19	39212221	39212221	A	G	ACTN4	c.1335A>G	NM_004924.6	NP_004915.2:p.(Thr445=)	NC_000019.9:g.39212221A>G	(Likely) benign	1 lab	04c1b0f93e
2:179644030 TTN T>A	2	179644030	179644030	T	A	TTN	c.3889A>T	NM_001267550.2	NP_001254479.2:p.(Ile1297Phe)	NC_000002.11:g.179644030T>A	(Likely) benign	1 lab	35471d952c
17:70118987 SOX9 G>GC	17	70118987	70118988	G	GC	SOX9	c.560dup	NM_000346.4	NP_000337.1:p.(Glu188GlyfsTer64)	NC_000017.10:g.70118988dup	(Likely) pathogenic	1 lab	35477bb56c
7:95775946 SLC25A13 C>T	7	95775946	95775946	C	T	SLC25A13	c.1374G>A	NM_014251.3	NP_055066.1:p.(Val458=)	NC_000007.13:g.95775946C>T	(Likely) benign	1 lab	04c1fc3e87
11:119103254 CBL A>G	11	119103254	119103254	A	G	CBL	c.292A>G	NM_005188.3	NP_005179.2:p.(Ile98Val)	NC_000011.9:g.119103254A>G	(Likely) benign	1 lab	35484530bb
19:17953972 JAK3 C>T	19	17953972	17953972	C	T	JAK3	c.430G>A	NM_000215.3	NP_000206.2:p.(Asp144Asn)	NC_000019.9:g.17953972C>T	VUS	1 lab	3549b3a164
10:55944995 PCDH15 C>T	10	55944995	55944995	C	T	PCDH15	c.1339G>A	NM_001384140.1	NP_001371069.1:p.(Asp447Asn)	NC_000010.10:g.55944995C>T	VUS	1 lab	354b50dfe6
1:156084651 LMNA G>A	1	156084651	156084651	G	A	LMNA	c.-59G>A	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156084651G>A	VUS	1 lab	35518bfca8
21:47705237 MCM3AP T>C	21	47705237	47705237	T	C	MCM3AP				NC_000021.8:g.47705237T>C	(Likely) benign	1 lab	3553edc5a1
16:57921977 CNGB1 G>A	16	57921977	57921977	G	A	CNGB1				NC_000016.9:g.57921977G>A	VUS	1 lab	3556a92067
2:165947785 SCN3A G>A	2	165947785	165947785	G	A	SCN3A	c.4878C>T	NM_006922.4	NP_008853.3:p.(Ala1626=)	NC_000002.11:g.165947785G>A	(Likely) benign	1 lab	35573f8b4e
15:78423554 CIB2 C>T	15	78423554	78423554	C	T	CIB2	c.4G>A	NM_006383.3	NP_006374.1:p.(Gly2Arg)	NC_000015.9:g.78423554C>T	VUS	1 lab	355bf17696
X:32536168 DMD A>G	X	32536168	32536168	A	G	DMD	c.1880T>C	NM_004010.3	NP_004001.1:p.(Phe627Ser)	NC_000023.10:g.32536168A>G	(Likely) benign	1 lab	04cc044f3b
12:3747435 CRACR2A C>T	12	3747435	3747435	C	T	CRACR2A	c.1457G>A	NM_001144958.2	NP_001138430.1:p.(Gly486Asp)	NC_000012.11:g.3747435C>T	(Likely) benign	1 lab	04cc280ef5
7:158526880 ESYT2 G>A	7	158526880	158526880	G	A	ESYT2	c.*18C>T	NM_020728.2	NP_065779.1:p.?	NC_000007.13:g.158526880G>A	(Likely) benign	1 lab	356563fefe
11:108128290 ATM A>G	11	108128290	108128290	A	G	ATM	c.2333A>G	NM_000051.4	NP_000042.3:p.(Asn778Ser)	NC_000011.9:g.108128290A>G	VUS	1 lab	356dc0872d
2:145147541 ZEB2 T>C	2	145147541	145147541	T	C	ZEB2	c.3122A>G	NM_014795.3	NP_055610.1:p.(His1041Arg)	NC_000002.11:g.145147541T>C	(Likely) pathogenic	1 lab	356dc4f75c
14:51095138 ATL1 G>A	14	51095138	51095138	G	A	ATL1	c.1509G>A	NM_015915.4	NP_056999.2:p.(Leu503=)	NC_000014.8:g.51095138G>A	(Likely) benign	1 lab	35732ffe63
7:75613160 POR TG>T	7	75613160	75613161	TG	T	POR	c.1053del	NM_000941.3	NP_000932.3:p.(Asn352ThrfsTer69)	NC_000007.13:g.75613161del	(Likely) pathogenic	1 lab	357524b373
2:228121147 COL4A3 T>G	2	228121147	228121147	T	G	COL4A3	c.987+35T>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228121147T>G	(Likely) benign	1 lab	35764ea53d
12:6128469 VWF A>C	12	6128469	6128469	A	C	VWF	c.4115T>G	NM_000552.3	NP_000543.2:p.(Ile1372Ser)	NC_000012.11:g.6128469A>C	(Likely) pathogenic	1 lab	3577becf59
7:75687396 MDH2 G>A	7	75687396	75687396	G	A	MDH2	c.429G>A	NM_005918.3	NP_005909.2:p.(Pro143=)	NC_000007.13:g.75687396G>A	(Likely) benign	1 lab	35788e36a7
1:207297680 C4BPA T>C	1	207297680	207297680	T	C	C4BPA	c.675T>C	NM_000715.3	NP_000706.1:p.(Gly225=)	NC_000001.10:g.207297680T>C	(Likely) benign	1 lab	3579ceed9f
9:140711963 EHMT1 C>T	9	140711963	140711963	C	T	EHMT1	c.3447C>T	NM_024757.5	NP_079033.4:p.(Gly1149=)	NC_000009.11:g.140711963C>T	VUS	1 lab	357a31352b
2:32372328 SPAST G>C	2	32372328	32372328	G	C	SPAST	c.1728+1G>C	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32372328G>C	(Likely) pathogenic	1 lab	35a23152c3
4:123664578 BBS12 C>T	4	123664578	123664578	C	T	BBS12	c.1531C>T	NM_152618.2	NP_689831.2:p.(Gln511Ter)	NC_000004.11:g.123664578C>T	(Likely) pathogenic	1 lab	357aa7b75d
1:94522265 ABCA4 GGCCTT>G	1	94522265	94522271	GGCCTT	G	ABCA4	c.2269_2273del	NM_000350.2	NP_000341.2:p.(Lys757GlnfsTer7)	NC_000001.10:g.94522267_94522271del	(Likely) pathogenic	1 lab	357ced6ea5
20:18038585 OVOL2 A>G	20	18038585	18038585	A	G	OVOL2				NC_000020.10:g.18038585A>G	(Likely) pathogenic	1 lab	3e42307cab
8:144900361 PUF60 A>G	8	144900361	144900361	A	G	PUF60	c.603+2T>C	NM_078480.2	NP_510965.1:p.?	NC_000008.10:g.144900361A>G	(Likely) pathogenic	1 lab	35868f8332
16:89623353 SPG7 T>C	16	89623353	89623353	T	C	SPG7	c.2240T>C	NM_003119.2	NP_003110.1:p.(Ile747Thr)	NC_000016.9:g.89623353T>C	VUS	1 lab	3587726fc0
18:11867183 GNAL G>C	18	11867183	11867183	G	C	GNAL	c.637G>C	NM_001142339.2	NP_001135811.1:p.(Gly213Arg)	NC_000018.9:g.11867183G>C	VUS	1 lab	358fac7fc8
9:75431077 TMC1 G>A	9	75431077	75431077	G	A	TMC1	c.1714G>A	NM_138691.2	NP_619636.2:p.(Asp572Asn)	NC_000009.11:g.75431077G>A	(Likely) pathogenic	1 lab	3590069179
5:135390545 TGFBI C>A	5	135390545	135390545	C	A	TGFBI	c.1405C>A	NM_000358.3	NP_000349.1:p.(Arg469Ser)	NC_000005.9:g.135390545C>A	VUS	1 lab	3595b7221b
15:89873393 POLG C>A	15	89873393	89873393	C	A	POLG	c.774G>T	NM_002693.3	NP_002684.1:p.(Gln258His)	NC_000015.9:g.89873393C>A	(Likely) benign	1 lab	359730b3b2
2:227919421 COL4A4 G>GA	2	227919421	227919425	G	GA	COL4A4	c.2748dup	NM_000092.4	NP_000083.3:p.(Pro917SerfsTer46)	NC_000002.11:g.227919425dup	(Likely) pathogenic	1 lab	3599eeda67
16:28500657 CLN3 G>A	16	28500657	28500657	G	A	CLN3	c.176C>T	NM_001042432.2	NP_001035897.1:p.(Ala59Val)	NC_000016.9:g.28500657G>A	VUS	1 lab	359fe29776
16:1509089 CLCN7 A>C	16	1509089	1509089	A	C	CLCN7	c.675+19T>G	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1509089A>C	(Likely) benign	1 lab	35a6db7d44
17:18052157 MYO15A G>A	17	18052157	18052157	G	A	MYO15A	c.6847G>A	NM_016239.3	NP_057323.3:p.(Val2283Met)	NC_000017.10:g.18052157G>A	VUS	1 lab	35a8af035f
2:179448652 TTN C>T	2	179448652	179448652	C	T	TTN	c.65276-19G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448652C>T	(Likely) benign	1 lab	35a956c7cb
11:2797207 KCNQ1 C>T	11	2797207	2797207	C	T	KCNQ1	c.1608C>T	NM_000218.2	NP_000209.2:p.(Tyr536=)	NC_000011.9:g.2797207C>T	(Likely) benign	1 lab	35ac2b089e
5:112175255 APC G>T	5	112175255	112175255	G	T	APC	c.3964G>T	NM_000038.5	NP_000029.2:p.(Glu1322Ter)	NC_000005.9:g.112175255G>T	(Likely) pathogenic	1 lab	35af1cc743
3:37061834 MLH1 T>G	3	37061834	37061834	T	G	MLH1	c.918T>G	NM_000249.3	NP_000240.1:p.(Asn306Lys)	NC_000003.11:g.37061834T>G	VUS	1 lab	35b01c9162
11:47360224 MYBPC3 A>C	11	47360224	47360224	A	C	MYBPC3	c.2155T>G	NM_000256.3	NP_000247.2:p.(Cys719Gly)	NC_000011.9:g.47360224A>C	VUS	1 lab	35b53f8896
1:16382911 CLCNKB A>G	1	16382911	16382911	A	G	CLCNKB				NC_000001.10:g.16382911A>G	(Likely) benign	1 lab	35b560376e
14:23883028 MYH7 C>T	14	23883028	23883028	C	T	MYH7	c.5730G>A	NM_000257.2	NP_000248.2:p.(Ala1910=)	NC_000014.8:g.23883028C>T	(Likely) benign	1 lab	35b7c9ffe7
10:89623860 PTEN CT>C	10	89623860	89623861	CT	C	PTEN	c.-366del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623861del	(Likely) benign	1 lab	35bc378474
7:138430001 ATP6V0A4 G>A	7	138430001	138430001	G	A	ATP6V0A4	c.1345C>T	NM_020632.2	NP_065683.2:p.(Arg449Cys)	NC_000007.13:g.138430001G>A	VUS	1 lab	35bd94d8d5
17:59870976 BRIP1 A>G	17	59870976	59870976	A	G	BRIP1	c.1455T>C	NM_032043.3	NP_114432.2:p.(Ala485=)	NC_000017.10:g.59870976A>G	(Likely) benign	1 lab	35bda67f6e
13:32911893 BRCA2 G>A	13	32911893	32911893	G	A	BRCA2	c.3401G>A	NM_000059.3	NP_000050.2:p.(Ser1134Asn)	NC_000013.10:g.32911893G>A	(Likely) benign	1 lab	35bfa47f67
1:179520440 NPHS2 T>TAA	1	179520440	179520444	T	TAA	NPHS2	c.1018_1019dup	NM_014625.3	NP_055440.1:p.(Leu340PhefsTer9)	NC_000001.10:g.179520443_179520444dup	(Likely) pathogenic	1 lab	04dc1ef363
4:187197545 F11 G>A	4	187197545	187197545	G	A	F11	c.755+1G>A	NM_000128.4	NP_000119.1:p.?	NC_000004.11:g.187197545G>A	(Likely) pathogenic	1 lab	35c104e61b
7:103159954 RELN G>A	7	103159954	103159954	G	A	RELN	c.7678C>T	NM_005045.4	NP_005036.2:p.(Arg2560Ter)	NC_000007.13:g.103159954G>A	VUS	1 lab	35c3c1cb74
11:111779691 CRYAB C>G	11	111779691	111779691	C	G	CRYAB	c.325G>C	NM_001885.1	NP_001876.1:p.(Asp109His)	NC_000011.9:g.111779691C>G	VUS	1 lab	35c442d057
1:3102783 PRDM16 G>A	1	3102783	3102783	G	A	PRDM16	c.132G>A	NM_022114.3	NP_071397.3:p.(Ser44=)	NC_000001.10:g.3102783G>A	(Likely) benign	1 lab	35c49da41f
16:30977624 SETD1A C>T	16	30977624	30977624	C	T	SETD1A				NC_000016.9:g.30977624C>T	VUS	1 lab	35c5443651
2:32341228 SPAST T>G	2	32341228	32341228	T	G	SPAST	c.1045T>G	NM_014946.3	NP_055761.2:p.(Leu349Val)	NC_000002.11:g.32341228T>G	VUS	1 lab	35c759956e
1:201341175 TNNT2 CAGAA>C	1	201341175	201341179	CAGAA	C	TNNT2	c.53-10_53-7del	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201341176_201341179del	(Likely) benign	1 lab	35d1840e82
2:45170050 SIX3 G>T	2	45170050	45170050	G	T	SIX3	c.806+1G>T	NM_005413.3	NP_005404.1:p.?	NC_000002.11:g.45170050G>T	(Likely) pathogenic	1 lab	35d1e1a78f
2:220283275 DES A>G	2	220283275	220283275	A	G	DES	c.91A>G	NM_001927.4	NP_001918.3:p.(Ser31Gly)	NC_000002.11:g.220283275A>G	VUS	1 lab	35d27b972e
19:6714008 C3 G>A	19	6714008	6714008	G	A	C3	c.768C>T	NM_000064.4	NP_000055.2:p.(Thr256=)	NC_000019.9:g.6714008G>A	VUS	1 lab	35d4e0c376
2:25459837 DNMT3A G>A	2	25459837	25459837	G	A	DNMT3A				NC_000002.11:g.25459837G>A	(Likely) pathogenic	1 lab	35d77e7469
11:118896087 SLC37A4 G>A	11	118896087	118896087	G	A	SLC37A4	c.985-48C>T	NM_001164277.1	NP_001157749.1:p.?	NC_000011.9:g.118896087G>A	(Likely) benign	1 lab	04e0dc006e
6:42689706 PRPH2 G>A	6	42689706	42689706	G	A	PRPH2	c.367C>T	NM_000322.4	NP_000313.2:p.(Arg123Trp)	NC_000006.11:g.42689706G>A	VUS	1 lab	35da101e0d
2:179459064 TTN C>CACAT	2	179459064	179459070	C	CACAT	TTN	c.58150+3_58150+6dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179459067_179459070dup	VUS	1 lab	35da761c65
22:38541632 PLA2G6 C>T	22	38541632	38541632	C	T	PLA2G6				NC_000022.10:g.38541632C>T	VUS	1 lab	35da8da432
3:38743629 SCN10A G>A	3	38743629	38743629	G	A	SCN10A	c.4387-29C>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38743629G>A	(Likely) benign	1 lab	35dab5bb2f
6:32007987 CYP21A2 G>A	6	32007987	32007987	G	A	CYP21A2	c.939+5G>A	NM_000500.7	NP_000491.4:p.?	NC_000006.11:g.32007987G>A	VUS	1 lab	35dad81268
2:240029881 HDAC4 T>C	2	240029881	240029881	T	C	HDAC4	c.1964-2A>G	NM_006037.4	NP_006028.2:p.?	NC_000002.11:g.240029881T>C	VUS	1 lab	35dd24ba39
3:48632535 COL7A1 G>A	3	48632535	48632535	G	A	COL7A1	c.58C>T	NM_000094.3	NP_000085.1:p.(Arg20Ter)	NC_000003.11:g.48632535G>A	(Likely) pathogenic	1 lab	35ddd6f83c
X:117527078 WDR44 A>G	X	117527078	117527078	A	G	WDR44	c.670A>G	NM_019045.4	NP_061918.3:p.(Ile224Val)	NC_000023.10:g.117527078A>G	VUS	1 lab	35de09b906
11:118960397 HMBS G>A	11	118960397	118960397	G	A	HMBS	c.271G>A	NM_000190.3	NP_000181.2:p.(Asp91Asn)	NC_000011.9:g.118960397G>A	VUS	1 lab	35de85a2cc
12:6062657 VWF C>T	12	6062657	6062657	C	T	VWF	c.7986+5G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6062657C>T	VUS	1 lab	35e32ddb85
14:103396936 AMN G>C	14	103396936	103396936	G	C	AMN	c.1281G>C	NM_030943.3	NP_112205.2:p.(Leu427=)	NC_000014.8:g.103396936G>C	(Likely) benign	1 lab	04e238deae
9:4118772 GLIS3 A>C	9	4118772	4118772	A	C	GLIS3	c.706T>G	NM_001042413.1	NP_001035878.1:p.(Ser236Ala)	NC_000009.11:g.4118772A>C	VUS	1 lab	35f61325b2
3:120352177 HGD T>A	3	120352177	120352177	T	A	HGD	c.1007-2A>T	NM_000187.4	NP_000178.2:p.?	NC_000003.11:g.120352177T>A	(Likely) pathogenic	1 lab	35ff15e7e2
X:47058446 UBA1 G>C	X	47058446	47058446	G	C	UBA1	c.118-1G>C	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47058446G>C	(Likely) pathogenic	1 lab	36009df8f8
21:43810084 TMPRSS3 C>T	21	43810084	43810084	C	T	TMPRSS3				NC_000021.8:g.43810084C>T	(Likely) benign	1 lab	3601a776e5
8:82606601 SLC10A5 C>A	8	82606601	82606601	C	A	SLC10A5	c.607G>T	NM_001010893.2	NP_001010893.1:p.(Glu203Ter)	NC_000008.10:g.82606601C>A	(Likely) benign	1 lab	3603244d85
3:37053477 MLH1 G>A	3	37053477	37053477	G	A	MLH1	c.589-25G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053477G>A	(Likely) benign	1 lab	36039a4df3
3:38738852 SCN10A G>C	3	38738852	38738852	G	C	SCN10A	c.5859C>G	NM_006514.3	NP_006505.3:p.(Ala1953=)	NC_000003.11:g.38738852G>C	(Likely) benign	1 lab	360b6dfcb3
17:56801423 RAD51C T>C	17	56801423	56801423	T	C	RAD51C				NC_000017.10:g.56801423T>C	(Likely) benign	1 lab	360be8b723
5:88119566 MEF2C C>T	5	88119566	88119566	C	T	MEF2C	c.40G>A	NM_001193347.1	NP_001180276.1:p.(Glu14Lys)	NC_000005.9:g.88119566C>T	VUS	1 lab	360fb37c5a
2:47705515 MSH2 C>A	2	47705515	47705515	C	A	MSH2	c.2315C>A	NM_000251.2	NP_000242.1:p.(Thr772Lys)	NC_000002.11:g.47705515C>A	(Likely) benign	1 lab	36121a75c9
3:48627045 COL7A1 C>T	3	48627045	48627045	C	T	COL7A1	c.2157G>A	NM_000094.3	NP_000085.1:p.(Trp719Ter)	NC_000003.11:g.48627045C>T	(Likely) pathogenic	1 lab	3616cd9735
1:237863650 RYR2 C>A	1	237863650	237863650	C	A	RYR2	c.9250C>A	NM_001035.2	NP_001026.2:p.(Arg3084=)	NC_000001.10:g.237863650C>A	(Likely) benign	1 lab	3617b36f0f
X:153171786 AVPR2 ATTGTGG>A	X	153171786	153171793	ATTGTGG	A	AVPR2	c.828_833del	NM_000054.4	NP_000045.1:p.(Val278_Val279del)	NC_000023.10:g.153171788_153171793del	VUS	1 lab	36180d77ce
12:22001085 ABCC9 T>A	12	22001085	22001085	T	A	ABCC9	c.2865A>T	NM_005691.3	NP_005682.2:p.(Glu955Asp)	NC_000012.11:g.22001085T>A	(Likely) benign	1 lab	361f0eca33
3:38768447 SCN10A C>T	3	38768447	38768447	C	T	SCN10A	c.2737G>A	NM_006514.4	NP_006505.4:p.(Ala913Thr)	NC_000003.11:g.38768447C>T	VUS	1 lab	3620be8428
7:47970696 PKD1L1 C>T	7	47970696	47970696	C	T	PKD1L1	c.737+5G>A	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47970696C>T	(Likely) benign	1 lab	362132bb48
19:11558533 PRKCSH C>T	19	11558533	11558533	C	T	PRKCSH	c.1034C>T	NM_002743.3	NP_002734.2:p.(Pro345Leu)	NC_000019.9:g.11558533C>T	(Likely) benign	1 lab	04e3480273
13:32910914 BRCA2 G>T	13	32910914	32910914	G	T	BRCA2	c.2422G>T	NM_000059.3	NP_000050.2:p.(Glu808Ter)	NC_000013.10:g.32910914G>T	(Likely) pathogenic	1 lab	3622cd79ab
12:122064855 MISSING G>T	12	122064855	122064855	G	T	MISSING				NC_000012.11:g.122064855G>T	VUS	1 lab	3624c776cb
16:89349171 ANKRD11 G>T	16	89349171	89349171	G	T	ANKRD11	c.3779C>A	NM_001256182.1	NP_001243111.1:p.(Ser1260Ter)	NC_000016.9:g.89349171G>T	(Likely) pathogenic	1 lab	3625f1cb33
1:156100452 LMNA T>C	1	156100452	156100452	T	C	LMNA	c.401T>C	NM_170707.3	NP_733821.1:p.(Leu134Pro)	NC_000001.10:g.156100452T>C	(Likely) pathogenic	1 lab	362ce6a220
10:88476079 LDB3 T>A	10	88476079	88476079	T	A	LDB3	c.1232-5T>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88476079T>A	VUS	1 lab	3c90f25eb0
X:73962316 NEXMIF AT>A	X	73962316	73962319	AT	A	NEXMIF	c.2075del	NM_001008537.2	NP_001008537.1:p.(Asn692MetfsTer9)	NC_000023.10:g.73962319del	(Likely) pathogenic	1 lab	362d85e3e3
9:2729475 KCNV2 C>T	9	2729475	2729475	C	T	KCNV2	c.1386C>T	NM_133497.3	NP_598004.1:p.(Asp462=)	NC_000009.11:g.2729475C>T	(Likely) benign	1 lab	36309fe8bc
17:4836644 GP1BA G>A	17	4836644	4836644	G	A	GP1BA	c.745G>A	NM_000173.5	NP_000164.5:p.(Gly249Ser)	NC_000017.10:g.4836644G>A	(Likely) pathogenic	1 lab	3631160307
18:52896081 TCF4 G>A	18	52896081	52896081	G	A	TCF4	c.1876C>T	NM_001083962.2	NP_001077431.1:p.(Arg626Ter)	NC_000018.9:g.52896081G>A	(Likely) pathogenic	1 lab	3636f3c9ad
9:32541969 TOPORS CTCTG>C	9	32541969	32541977	CTCTG	C	TOPORS	c.2550_2553del	NM_005802.5	NP_005793.2:p.(Asp850GlufsTer15)	NC_000009.11:g.32541974_32541977del	(Likely) pathogenic	1 lab	3637f51e56
8:11615739 GATA4 C>T	8	11615739	11615739	C	T	GATA4	c.1147-63C>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11615739C>T	(Likely) benign	1 lab	363b25d0f4
X:154091387 F8 C>T	X	154091387	154091387	C	T	F8	c.6545G>A	NM_000132.3	NP_000123.1:p.(Arg2182His)	NC_000023.10:g.154091387C>T	(Likely) pathogenic	1 lab	04e5fb2a57
2:167298067 SCN7A G>C	2	167298067	167298067	G	C	SCN7A	c.1996C>G	NM_002976.3	NP_002967.2:p.(Leu666Val)	NC_000002.11:g.167298067G>C	(Likely) benign	1 lab	363c25f23b
3:186504967 EIF4A2 C>G	3	186504967	186504967	C	G	EIF4A2	c.823C>G	NM_001967.4	NP_001958.2:p.(Gln275Glu)	NC_000003.11:g.186504967C>G	VUS	1 lab	363d81eb5f
2:99013339 CNGA3 G>A	2	99013339	99013339	G	A	CNGA3	c.1706G>A	NM_001298.2	NP_001289.1:p.(Arg569His)	NC_000002.11:g.99013339G>A	(Likely) pathogenic	1 lab	363f2a28ef
15:90173735 KIF7 G>GCT	15	90173735	90173736	G	GCT	KIF7	c.3112-12_3112-11insAG	NM_198525.2	NP_940927.2:p.?	NC_000015.9:g.90173735_90173736insCT	(Likely) benign	1 lab	3640e866d1
10:73537614 CDH23 G>A	10	73537614	73537614	G	A	CDH23	c.5023G>A	NM_022124.5	NP_071407.4:p.(Val1675Ile)	NC_000010.10:g.73537614G>A	(Likely) benign	1 lab	3641b7177e
5:112164586 APC C>T	5	112164586	112164586	C	T	APC	c.1660C>T	NM_000038.6	NP_000029.2:p.(Arg554Ter)	NC_000005.9:g.112164586C>T	(Likely) pathogenic	1 lab	3641c984b0
17:33285649 CCT6B C>T	17	33285649	33285649	C	T	CCT6B	c.266G>A	NM_006584.3	NP_006575.2:p.(Gly89Glu)	NC_000017.10:g.33285649C>T	VUS	1 lab	3642d0a3c8
6:114274457 HDAC2 C>A	6	114274457	114274457	C	A	HDAC2	c.623G>T	NM_001527.3	NP_001518.3:p.(Gly208Val)	NC_000006.11:g.114274457C>A	VUS	1 lab	364cb15e5b
2:227973873 COL4A4 T>C	2	227973873	227973873	T	C	COL4A4	c.657+67A>G	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227973873T>C	(Likely) benign	1 lab	364d23e100
3:123018977 ADCY5 C>T	3	123018977	123018977	C	T	ADCY5	c.2890G>A	NM_183357.2	NP_899200.1:p.(Ala964Thr)	NC_000003.11:g.123018977C>T	VUS	1 lab	364e3b774a
11:121008155 TECTA C>A	11	121008155	121008155	C	A	TECTA	c.2967C>A	NM_005422.2	NP_005413.2:p.(His989Gln)	NC_000011.9:g.121008155C>A	VUS	1 lab	365174a600
17:7907410 GUCY2D T>A	17	7907410	7907410	T	A	GUCY2D	c.962T>A	NM_000180.3	NP_000171.1:p.(Val321Glu)	NC_000017.10:g.7907410T>A	VUS	1 lab	365201aa5d
17:8136092 CTC1 C>T	17	8136092	8136092	C	T	CTC1	c.1945+132G>A	NM_025099.5	NP_079375.3:p.?	NC_000017.10:g.8136092C>T	(Likely) benign	1 lab	365291ebbe
4:3495031 DOK7 G>A	4	3495031	3495031	G	A	DOK7	c.1318G>A	NM_173660.4	NP_775931.3:p.(Ala440Thr)	NC_000004.11:g.3495031G>A	(Likely) benign	1 lab	365930a25d
12:88447510 CEP290 G>A	12	88447510	88447510	G	A	CEP290	c.7048C>T	NM_025114.3	NP_079390.3:p.(Gln2350Ter)	NC_000012.11:g.88447510G>A	(Likely) pathogenic	1 lab	365a03569d
X:110406857 PAK3 C>T	X	110406857	110406857	C	T	PAK3	c.668C>T	NM_002578.5	NP_002569.1:p.(Pro223Leu)	NC_000023.10:g.110406857C>T	VUS	1 lab	366df400c6
17:18051816 MYO15A A>G	17	18051816	18051816	A	G	MYO15A	c.6698A>G	NM_016239.3	NP_057323.3:p.(Gln2233Arg)	NC_000017.10:g.18051816A>G	VUS	1 lab	366fc642e5
15:73660244 HCN4 T>G	15	73660244	73660244	T	G	HCN4	c.368A>C	NM_005477.2	NP_005468.1:p.(His123Pro)	NC_000015.9:g.73660244T>G	(Likely) benign	1 lab	36704e5ba7
10:26241115 MYO3A AC>TA	10	26241115	26241116	AC	TA	MYO3A	c.76_77delinsTA	NM_017433.4	NP_059129.3:p.(Thr26Ter)	NC_000010.10:g.26241115_26241116delinsTA	(Likely) pathogenic	1 lab	3670d858b7
4:4861936 MSX1 G>C	4	4861936	4861936	G	C	MSX1	c.310G>C	NM_002448.3	NP_002439.2:p.(Gly104Arg)	NC_000004.11:g.4861936G>C	VUS	1 lab	3675917ca3
2:238270381 COL6A3 C>T	2	238270381	238270381	C	T	COL6A3	c.6156+1G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238270381C>T	(Likely) pathogenic	1 lab	367971acbe
12:57323336 SDR9C7 G>A	12	57323336	57323336	G	A	SDR9C7	c.562C>T	NM_148897.3	NP_683695.1:p.(Arg188Cys)	NC_000012.11:g.57323336G>A	(Likely) pathogenic	1 lab	367ecd53f1
6:129465153 LAMA2 C>T	6	129465153	129465153	C	T	LAMA2	c.747C>T	NM_000426.3	NP_000417.2:p.(Arg249=)	NC_000006.11:g.129465153C>T	(Likely) benign	1 lab	36821d9cb6
X:103042886 PLP1 A>G	X	103042886	103042886	A	G	PLP1	c.613A>G	NM_000533.3	NP_000524.3:p.(Arg205Gly)	NC_000023.10:g.103042886A>G	(Likely) pathogenic	1 lab	3683483484
X:107845133 COL4A5 G>A	X	107845133	107845133	G	A	COL4A5	c.2060G>A	NM_033380.2	NP_203699.1:p.(Gly687Glu)	NC_000023.10:g.107845133G>A	(Likely) pathogenic	1 lab	368354bd36
22:41895736 ACO2 CTG>C	22	41895736	41895738	CTG	C	ACO2	c.44_45del	NM_001098.3	NP_001089.1:p.(Leu15ArgfsTer23)	NC_000022.10:g.41895737_41895738del	(Likely) pathogenic	1 lab	368751983a
6:42689696 PRPH2 A>G	6	42689696	42689696	A	G	PRPH2	c.377T>C	NM_000322.4	NP_000313.2:p.(Leu126Pro)	NC_000006.11:g.42689696A>G	(Likely) pathogenic	1 lab	3689566b8e
9:131329209 SPTAN1 C>T	9	131329209	131329209	C	T	SPTAN1	c.190C>T	NM_001130438.2	NP_001123910.1:p.(Leu64Phe)	NC_000009.11:g.131329209C>T	VUS	1 lab	368c3c4f8c
12:133252065 POLE C>T	12	133252065	133252065	C	T	POLE	c.1145G>A	NM_006231.2	NP_006222.2:p.(Ser382Asn)	NC_000012.11:g.133252065C>T	(Likely) benign	1 lab	368e4c9287
10:95262993 CEP55 C>T	10	95262993	95262993	C	T	CEP55	c.307C>T	NM_018131.5	NP_060601.4:p.(Gln103Ter)	NC_000010.10:g.95262993C>T	(Likely) pathogenic	1 lab	3695888f5c
9:108467927 TMEM38B T>TA	9	108467927	108467928	T	TA	TMEM38B	c.163dup	NM_018112.3	NP_060582.1:p.(Met55AsnfsTer28)	NC_000009.11:g.108467928dup	(Likely) pathogenic	1 lab	3696c5ac87
17:79478501 ACTG1 G>C	17	79478501	79478501	G	C	ACTG1				NC_000017.10:g.79478501G>C	VUS	1 lab	36973cecdd
19:6828505 VAV1 G>C	19	6828505	6828505	G	C	VAV1	c.1092+7G>C	NM_005428.4	NP_005419.2:p.?	NC_000019.9:g.6828505G>C	(Likely) benign	1 lab	04e8339101
2:231077724 SP110 C>T	2	231077724	231077724	C	T	SP110	c.335G>A	NM_004509.4	NP_004500.4:p.(Trp112Ter)	NC_000002.11:g.231077724C>T	(Likely) pathogenic	1 lab	04e89070b9
5:169533388 FOXI1 C>T	5	169533388	169533388	C	T	FOXI1				NC_000005.9:g.169533388C>T	VUS	1 lab	369e25470e
10:89717708 PTEN C>T	10	89717708	89717708	C	T	PTEN	c.733C>T	NM_000314.8	NP_000305.3:p.(Gln245Ter)	NC_000010.10:g.89717708C>T	(Likely) pathogenic	1 lab	369eda7408
19:6712373 C3 G>A	19	6712373	6712373	G	A	C3	c.1164C>T	NM_000064.2	NP_000055.2:p.(Pro388=)	NC_000019.9:g.6712373G>A	VUS	1 lab	3db49824f4
2:32476418 NLRC4 C>T	2	32476418	32476418	C	T	NLRC4	c.515G>A	NM_021209.4	NP_067032.3:p.(Gly172Asp)	NC_000002.11:g.32476418C>T	(Likely) pathogenic	1 lab	36a84f08a5
14:23870218 MYH6 TC>T	14	23870218	23870220	TC	T	MYH6	c.1142-33del	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23870220del	(Likely) benign	1 lab	36aa1be14b
17:7919069 GUCY2D G>A	17	7919069	7919069	G	A	GUCY2D	c.2953G>A	NM_000180.4	NP_000171.1:p.(Val985Met)	NC_000017.10:g.7919069G>A	VUS	1 lab	36ab933a85
2:179419661 TTN C>T	2	179419661	179419661	C	T	TTN	c.88525G>A	NM_001267550.2	NP_001254479.2:p.(Gly29509Arg)	NC_000002.11:g.179419661C>T	VUS	1 lab	36aef10f99
5:149265939 PDE6A T>C	5	149265939	149265939	T	C	PDE6A	c.1729-2A>G	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149265939T>C	(Likely) pathogenic	1 lab	36b039cd1e
6:129723628 LAMA2 G>A	6	129723628	129723628	G	A	LAMA2	c.5722G>A	NM_000426.3	NP_000417.2:p.(Asp1908Asn)	NC_000006.11:g.129723628G>A	VUS	1 lab	36b1615e17
X:29938182 IL1RAPL1 G>A	X	29938182	29938182	G	A	IL1RAPL1	c.1028G>A	NM_014271.3	NP_055086.1:p.(Arg343Gln)	NC_000023.10:g.29938182G>A	VUS	1 lab	36b715f8cc
1:155584029 MSTO1 C>T	1	155584029	155584029	C	T	MSTO1	c.1678C>T	NM_018116.4	NP_060586.2:p.(Gln560Ter)	NC_000001.10:g.155584029C>T	VUS	1 lab	36b76f33fd
19:11106940 SMARCA4 C>T	19	11106940	11106940	C	T	SMARCA4	c.1645C>T	NM_001128849.1	NP_001122321.1:p.(Arg549Cys)	NC_000019.9:g.11106940C>T	(Likely) pathogenic	1 lab	36b8643fa2
1:215824103 USH2A C>T	1	215824103	215824103	C	T	USH2A	c.14174G>A	NM_206933.4	NP_996816.3:p.(Trp4725Ter)	NC_000001.10:g.215824103C>T	(Likely) pathogenic	1 lab	36b9765e91
9:135156870 SETX G>A	9	135156870	135156870	G	A	SETX	c.6638C>T	NM_015046.5	NP_055861.3:p.(Pro2213Leu)	NC_000009.11:g.135156870G>A	(Likely) pathogenic	1 lab	36bddec800
6:76712691 IMPG1 A>G	6	76712691	76712691	A	G	IMPG1	c.1235T>C	NM_001563.4	NP_001554.2:p.(Leu412Pro)	NC_000006.11:g.76712691A>G	VUS	1 lab	36be7f7422
5:135382096 TGFBI G>A	5	135382096	135382096	G	A	TGFBI	c.371G>A	NM_000358.2	NP_000349.1:p.(Arg124His)	NC_000005.9:g.135382096G>A	(Likely) pathogenic	1 lab	36be975a52
1:155307936 ASH1L C>T	1	155307936	155307936	C	T	ASH1L	c.8747G>A	NM_018489.3	NP_060959.2:p.(Arg2916Gln)	NC_000001.10:g.155307936C>T	(Likely) benign	1 lab	36beab79cb
3:45565554 LARS2 A>G	3	45565554	45565554	A	G	LARS2	c.2358A>G	NM_015340.3	NP_056155.1:p.(Val786=)	NC_000003.11:g.45565554A>G	(Likely) benign	1 lab	36bee85484
6:123539852 TRDN T>A	6	123539852	123539852	T	A	TRDN	c.2084A>T	NM_006073.3	NP_006064.2:p.(Asp695Val)	NC_000006.11:g.123539852T>A	(Likely) benign	1 lab	36bef53467
16:3820807 CREBBP G>C	16	3820807	3820807	G	C	CREBBP	c.2644C>G	NM_004380.2	NP_004371.2:p.(Pro882Ala)	NC_000016.9:g.3820807G>C	VUS	1 lab	36bf8a9f91
6:133834126 EYA4 G>A	6	133834126	133834126	G	A	EYA4	c.1451G>A	NM_004100.4	NP_004091.3:p.(Arg484His)	NC_000006.11:g.133834126G>A	VUS	1 lab	36bffd661d
16:16230367 ABCC1 G>A	16	16230367	16230367	G	A	ABCC1	c.4158G>A	NM_004996.4	NP_004987.2:p.(Met1386Ile)	NC_000016.9:g.16230367G>A	VUS	1 lab	36c0109eac
15:41222223 DLL4 C>A	15	41222223	41222223	C	A	DLL4				NC_000015.9:g.41222223C>A	(Likely) pathogenic	1 lab	36c7b1f364
X:107841932 COL4A5 G>A	X	107841932	107841932	G	A	COL4A5	c.1780G>A	NM_033380.2	NP_203699.1:p.(Gly594Ser)	NC_000023.10:g.107841932G>A	(Likely) pathogenic	1 lab	36c7cf2719
9:2718301 KCNV2 T>C	9	2718301	2718301	T	C	KCNV2	c.562T>C	NM_133497.3	NP_598004.1:p.(Trp188Arg)	NC_000009.11:g.2718301T>C	VUS	1 lab	36c966ec47
14:23853629 MYH6 T>C	14	23853629	23853629	T	C	MYH6	c.5565+22A>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23853629T>C	(Likely) benign	1 lab	36ca2a2e1a
16:23649462 PALB2 A>T	16	23649462	23649462	A	T	PALB2	c.49-12T>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649462A>T	(Likely) benign	1 lab	36cbfe5b4d
8:20068775 ATP6V1B2 C>T	8	20068775	20068775	C	T	ATP6V1B2				NC_000008.10:g.20068775C>T	VUS	1 lab	36cc85975e
1:26140375 SELENON C>T	1	26140375	26140375	C	T	SELENON				NC_000001.10:g.26140375C>T	VUS	1 lab	36cd381a86
15:23086273 NIPA1 C>T	15	23086273	23086273	C	T	NIPA1	c.139G>A	NM_144599.5	NP_653200.2:p.(Val47Met)	NC_000015.9:g.23086273C>T	VUS	1 lab	36d1ae6bc1
4:108868515 CYP2U1 T>C	4	108868515	108868515	T	C	CYP2U1	c.1127-17T>C	NM_183075.2	NP_898898.1:p.?	NC_000004.11:g.108868515T>C	(Likely) benign	1 lab	36d207b813
4:88979220 PKD2 AC>A	4	88979220	88979221	AC	A	PKD2	c.1985del	NM_000297.4	NP_000288.1:p.(Thr662IlefsTer12)	NC_000004.11:g.88979221del	(Likely) pathogenic	1 lab	36d460eece
17:37821699 TCAP A>C	17	37821699	37821699	A	C	TCAP	c.87A>C	NM_003673.3	NP_003664.1:p.(Thr29=)	NC_000017.10:g.37821699A>C	(Likely) benign	1 lab	36d9eeeba5
19:38985205 RYR1 G>A	19	38985205	38985205	G	A	RYR1				NC_000019.9:g.38985205G>A	(Likely) pathogenic	1 lab	36da9ae29f
11:108224635 ATM A>G	11	108224635	108224635	A	G	ATM	c.8786+28A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108224635A>G	(Likely) benign	1 lab	36dbf16ce1
2:32362212 SPAST T>C	2	32362212	32362212	T	C	SPAST	c.1448T>C	NM_014946.3	NP_055761.2:p.(Met483Thr)	NC_000002.11:g.32362212T>C	VUS	1 lab	36e4620a8b
12:66826555 GRIP1 A>G	12	66826555	66826555	A	G	GRIP1	c.1532-147T>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66826555A>G	(Likely) benign	1 lab	04ee95d0d1
15:48718059 FBN1 T>C	15	48718059	48718059	T	C	FBN1	c.7207A>G	NM_000138.4	NP_000129.3:p.(Ile2403Val)	NC_000015.9:g.48718059T>C	(Likely) benign	1 lab	36e71fc8c7
11:108192129 ATM T>C	11	108192129	108192129	T	C	ATM	c.6554T>C	NM_000051.3	NP_000042.3:p.(Ile2185Thr)	NC_000011.9:g.108192129T>C	(Likely) benign	1 lab	36e81b63f3
4:52890303 SGCB T>A	4	52890303	52890303	T	A	SGCB	c.777A>T	NM_000232.4	NP_000223.1:p.(Gly259=)	NC_000004.11:g.52890303T>A	(Likely) benign	1 lab	36e9066ad6
4:88989199 PKD2 C>G	4	88989199	88989199	C	G	PKD2	c.2508C>G	NM_000297.4	NP_000288.1:p.(Tyr836Ter)	NC_000004.11:g.88989199C>G	(Likely) pathogenic	1 lab	04efbfd647
8:61693961 CHD7 C>T	8	61693961	61693961	C	T	CHD7				NC_000008.10:g.61693961C>T	VUS	1 lab	04f1f8a00d
17:18042915 MYO15A G>A	17	18042915	18042915	G	A	MYO15A	c.5201G>A	NM_016239.4	NP_057323.3:p.(Ser1734Asn)	NC_000017.10:g.18042915G>A	VUS	1 lab	36f5ecf3cf
5:112175925 APC C>A	5	112175925	112175925	C	A	APC	c.4634C>A	NM_000038.6	NP_000029.2:p.(Ser1545Ter)	NC_000005.9:g.112175925C>A	(Likely) pathogenic	1 lab	36f6f8f9e2
12:80750659 OTOGL G>A	12	80750659	80750659	G	A	OTOGL	c.5957G>A	NM_173591.3	NP_775862.3:p.(Arg1986Gln)	NC_000012.11:g.80750659G>A	(Likely) benign	1 lab	36f7424647
X:55748694 RRAGB GAC>G	X	55748694	55748700	GAC	G	RRAGB	c.207_208del	NM_016656.3	NP_057740.2:p.(Arg70SerfsTer12)	NC_000023.10:g.55748699_55748700del	VUS	1 lab	36fddc10c0
7:128471051 FLNC C>G	7	128471051	128471051	C	G	FLNC	c.352+8C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128471051C>G	(Likely) benign	1 lab	37041f8424
X:69699087 DLG3 C>T	X	69699087	69699087	C	T	DLG3	c.1493C>T	NM_021120.3	NP_066943.2:p.(Thr498Ile)	NC_000023.10:g.69699087C>T	VUS	1 lab	370879aecc
7:155604781 SHH GA>G	7	155604781	155604782	GA	G	SHH	c.35del	NM_000193.4	NP_000184.1:p.(Leu12ProfsTer28)	NC_000007.13:g.155604782del	(Likely) pathogenic	1 lab	3709e31d42
4:5809981 EVC T>TG	4	5809981	5809982	T	TG	EVC	c.2616dup	NM_153717.3	NP_714928.1:p.(Arg873AlafsTer27)	NC_000004.11:g.5809982dup	(Likely) pathogenic	1 lab	370abcd62f
14:102510874 DYNC1H1 G>A	14	102510874	102510874	G	A	DYNC1H1	c.12902+46G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102510874G>A	(Likely) benign	1 lab	04f6f2819b
10:104836940 CNNM2 C>T	10	104836940	104836940	C	T	CNNM2				NC_000010.10:g.104836940C>T	(Likely) benign	1 lab	370d8be02d
4:647739 PDE6B C>A	4	647739	647739	C	A	PDE6B	c.810C>A	NM_000283.3	NP_000274.2:p.(Cys270Ter)	NC_000004.11:g.647739C>A	(Likely) pathogenic	1 lab	3715aa2462
7:91671369 AKAP9 A>C	7	91671369	91671369	A	C	AKAP9	c.4927A>C	NM_005751.4	NP_005742.4:p.(Ile1643Leu)	NC_000007.13:g.91671369A>C	VUS	1 lab	371618736c
18:10696530 PIEZO2 C>A	18	10696530	10696530	C	A	PIEZO2	c.6496G>T	NM_022068.3	NP_071351.2:p.(Glu2166Ter)	NC_000018.9:g.10696530C>A	(Likely) pathogenic	1 lab	3716a2fc17
11:61727014 BEST1 T>G	11	61727014	61727014	T	G	BEST1	c.912T>G	NM_004183.3	NP_004174.1:p.(Asp304Glu)	NC_000011.9:g.61727014T>G	VUS	1 lab	371723824b
2:9637377 ADAM17 C>T	2	9637377	9637377	C	T	ADAM17	c.1649G>A	NM_003183.4	NP_003174.3:p.(Gly550Asp)	NC_000002.11:g.9637377C>T	VUS	1 lab	37193430a3
2:179593637 TTN A>G	2	179593637	179593637	A	G	TTN	c.19128T>C	NM_001267550.2	NP_001254479.2:p.(Tyr6376=)	NC_000002.11:g.179593637A>G	(Likely) benign	1 lab	371a18ffc8
16:31498884 SLC5A2 T>C	16	31498884	31498884	T	C	SLC5A2	c.689T>C	NM_003041.4	NP_003032.1:p.(Phe230Ser)	NC_000016.9:g.31498884T>C	VUS	1 lab	371abf8b31
22:38093005 TRIOBP C>T	22	38093005	38093005	C	T	TRIOBP	c.-261C>T	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38093005C>T	(Likely) benign	1 lab	371cd0b804
17:29645783 NF1 G>C	17	29645783	29645783	G	C	NF1	c.4836-7055G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29645783G>C	(Likely) benign	1 lab	371d56b080
8:10474110 RP1L1 C>T	8	10474110	10474110	C	T	RP1L1	c.610-13G>A	NM_178857.5	NP_849188.4:p.?	NC_000008.10:g.10474110C>T	(Likely) benign	1 lab	372134732f
2:179487482 TTN T>C	2	179487482	179487482	T	C	TTN	c.44828A>G	NM_001267550.2	NP_001254479.2:p.(Glu14943Gly)	NC_000002.11:g.179487482T>C	VUS	1 lab	3721fbcc58
9:135785971 TSC1 G>T	9	135785971	135785971	G	T	TSC1				NC_000009.11:g.135785971G>T	(Likely) benign	1 lab	37262139cf
18:19378025 MIB1 A>G	18	19378025	19378025	A	G	MIB1	c.1093-20A>G	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19378025A>G	(Likely) benign	1 lab	04fa131cef
6:79700683 PHIP T>TTC	6	79700683	79700687	T	TTC	PHIP				NC_000006.11:g.79700686_79700687dup	(Likely) pathogenic	1 lab	3729f7442e
7:101845161 CUX1 C>T	7	101845161	101845161	C	T	CUX1	c.2617C>T	NM_001202543.1	NP_001189472.1:p.(Gln873Ter)	NC_000007.13:g.101845161C>T	(Likely) pathogenic	1 lab	372ad79a59
12:2691986 CACNA1C A>G	12	2691986	2691986	A	G	CACNA1C	c.2104-2A>G	NM_000719.6	NP_000710.5:p.?	NC_000012.11:g.2691986A>G	VUS	1 lab	372c9f83fb
19:55666183 TNNI3 G>A	19	55666183	55666183	G	A	TNNI3	c.298C>T	NM_000363.4	NP_000354.4:p.(Leu100Phe)	NC_000019.9:g.55666183G>A	VUS	1 lab	372cbf24eb
5:112154963 APC C>T	5	112154963	112154963	C	T	APC	c.1234C>T	NM_000038.5	NP_000029.2:p.(Gln412Ter)	NC_000005.9:g.112154963C>T	(Likely) pathogenic	1 lab	37306e9dcb
7:151478349 PRKAG2 G>A	7	151478349	151478349	G	A	PRKAG2	c.355C>T	NM_016203.4	NP_057287.2:p.(Arg119Ter)	NC_000007.13:g.151478349G>A	VUS	1 lab	373156de21
5:37052625 NIPBL G>A	5	37052625	37052625	G	A	NIPBL	c.7220G>A	NM_133433.4	NP_597677.2:p.(Arg2407Gln)	NC_000005.9:g.37052625G>A	VUS	1 lab	37333655dc
2:167055986 SCN9A A>G	2	167055986	167055986	A	G	SCN9A	c.5130T>C	NM_002977.3	NP_002968.1:p.(His1710=)	NC_000002.11:g.167055986A>G	(Likely) benign	1 lab	3733f75a38
16:30750986 SRCAP C>T	16	30750986	30750986	C	T	SRCAP	c.9625C>T	NM_006662.2	NP_006653.2:p.(Arg3209Cys)	NC_000016.9:g.30750986C>T	VUS	1 lab	3734df8a05
9:117803337 TNC C>T	9	117803337	117803337	C	T	TNC	c.5275G>A	NM_002160.3	NP_002151.2:p.(Gly1759Arg)	NC_000009.11:g.117803337C>T	VUS	1 lab	37361b0393
11:61723234 BEST1 G>A	11	61723234	61723234	G	A	BEST1	c.292G>A	NM_004183.3	NP_004174.1:p.(Glu98Lys)	NC_000011.9:g.61723234G>A	VUS	1 lab	3736fa98db
21:47419081 COL6A1 A>C	21	47419081	47419081	A	C	COL6A1	c.1689A>C	NM_001848.2	NP_001839.2:p.(Ala563=)	NC_000021.8:g.47419081A>C	(Likely) benign	1 lab	37377518eb
7:107338561 SLC26A4 G>A	7	107338561	107338561	G	A	SLC26A4				NC_000007.13:g.107338561G>A	VUS	1 lab	37377bbbee
15:48736776 FBN1 C>A	15	48736776	48736776	C	A	FBN1	c.5999G>T	NM_000138.5	NP_000129.3:p.(Cys2000Phe)	NC_000015.9:g.48736776C>A	(Likely) pathogenic	1 lab	373b58ba80
16:3293224 MEFV T>C	16	3293224	3293224	T	C	MEFV	c.2263A>G	NM_000243.2	NP_000234.1:p.(Ile755Val)	NC_000016.9:g.3293224T>C	(Likely) benign	1 lab	04fb7dffd9
12:57637604 STAC3 C>T	12	57637604	57637604	C	T	STAC3	c.1086G>A	NM_145064.3	NP_659501.1:p.(Glu362=)	NC_000012.11:g.57637604C>T	(Likely) benign	1 lab	04ff694a66
12:21011410 SLCO1B3 A>C	12	21011410	21011410	A	C	SLCO1B3	c.264A>C	NM_019844.3	NP_062818.1:p.(Gly88=)	NC_000012.11:g.21011410A>C	(Likely) benign	1 lab	04ff7b1b36
12:52200084 SCN8A T>C	12	52200084	52200084	T	C	SCN8A	c.4814T>C	NM_001330260.2	NP_001317189.1:p.(Ile1605Thr)	NC_000012.11:g.52200084T>C	(Likely) pathogenic	1 lab	3742906584
2:167138208 SCN9A T>C	2	167138208	167138208	T	C	SCN9A	c.2052A>G	NM_002977.3	NP_002968.1:p.(Ile684Met)	NC_000002.11:g.167138208T>C	(Likely) benign	1 lab	3748ae66b2
3:37092144 MLH1 A>C	3	37092144	37092144	A	C	MLH1	c.2271A>C	NM_000249.3	NP_000240.1:p.(Ter757TyrextTer36)	NC_000003.11:g.37092144A>C	(Likely) pathogenic	1 lab	37494041a4
17:56772279 RAD51C A>C	17	56772279	56772279	A	C	RAD51C	c.146-13A>C	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56772279A>C	(Likely) benign	1 lab	374cd427bd
1:237777484 RYR2 C>T	1	237777484	237777484	C	T	RYR2	c.5056C>T	NM_001035.3	NP_001026.2:p.(Leu1686Phe)	NC_000001.10:g.237777484C>T	(Likely) benign	1 lab	374e34d5a2
X:107908749 COL4A5 C>G	X	107908749	107908749	C	G	COL4A5	c.3386C>G	NM_033380.3	NP_203699.1:p.(Pro1129Arg)	NC_000023.10:g.107908749C>G	VUS	1 lab	3750231f39
5:112176020 APC G>T	5	112176020	112176020	G	T	APC	c.4729G>T	NM_000038.6	NP_000029.2:p.(Glu1577Ter)	NC_000005.9:g.112176020G>T	(Likely) pathogenic	1 lab	3752146e8f
1:228554521 OBSCN C>T	1	228554521	228554521	C	T	OBSCN	c.22229C>T	NM_001271223.2	NP_001258152.2:p.(Pro7410Leu)	NC_000001.10:g.228554521C>T	(Likely) benign	1 lab	3754a9331a
11:31815069 PAX6 G>A	11	31815069	31815069	G	A	PAX6	c.949C>T	NM_000280.4	NP_000271.1:p.(Arg317Ter)	NC_000011.9:g.31815069G>A	(Likely) pathogenic	1 lab	3754b5ec90
17:10541388 MYH3 C>T	17	10541388	10541388	C	T	MYH3	c.3701G>A	NM_002470.3	NP_002461.2:p.(Ser1234Asn)	NC_000017.10:g.10541388C>T	VUS	1 lab	37569534ad
22:38369634 SOX10 C>T	22	38369634	38369634	C	T	SOX10	c.1269G>A	NM_006941.3	NP_008872.1:p.(Ser423=)	NC_000022.10:g.38369634C>T	(Likely) benign	1 lab	3759b87622
2:47630448 MSH2 G>GA	2	47630448	47630449	G	GA	MSH2	c.118_119insA	NM_000251.3	NP_000242.1:p.(Gly40GlufsTer42)	NC_000002.11:g.47630448_47630449insA	(Likely) pathogenic	1 lab	375be58d37
2:167313417 SCN7A G>T	2	167313417	167313417	G	T	SCN7A	c.1253C>A	NM_002976.3	NP_002967.2:p.(Thr418Asn)	NC_000002.11:g.167313417G>T	(Likely) benign	1 lab	375caca618
11:17485062 ABCC8 G>A	11	17485062	17485062	G	A	ABCC8	c.502C>T	NM_001287174.1	NP_001274103.1:p.(Arg168Cys)	NC_000011.9:g.17485062G>A	VUS	1 lab	375da303e1
5:171849471 SH3PXD2B G>A	5	171849471	171849471	G	A	SH3PXD2B				NC_000005.9:g.171849471G>A	(Likely) benign	1 lab	375f3f3b83
2:48026747 MSH6 T>C	2	48026747	48026747	T	C	MSH6	c.1625T>C	NM_000179.2	NP_000170.1:p.(Leu542Pro)	NC_000002.11:g.48026747T>C	VUS	1 lab	375fe9dc55
12:2566863 CACNA1C G>A	12	2566863	2566863	G	A	CACNA1C	c.748G>A	NM_199460.4	NP_955630.3:p.(Gly250Arg)	NC_000012.11:g.2566863G>A	VUS	1 lab	3766d72b0b
14:77917626 VIPAS39 C>A	14	77917626	77917626	C	A	VIPAS39	c.247G>T	NM_001193314.1	NP_001180243.1:p.(Glu83Ter)	NC_000014.8:g.77917626C>A	(Likely) pathogenic	1 lab	376a513e58
11:68213903 LRP5 G>A	11	68213903	68213903	G	A	LRP5	c.4489-1G>A	NM_002335.2	NP_002326.2:p.?	NC_000011.9:g.68213903G>A	(Likely) pathogenic	1 lab	376b3b4015
17:66521899 PRKAR1A A>G	17	66521899	66521899	A	G	PRKAR1A	c.554A>G	NM_002734.4	NP_002725.1:p.(Tyr185Cys)	NC_000017.10:g.66521899A>G	VUS	1 lab	376ee1d06f
2:179647777 TTN C>T	2	179647777	179647777	C	T	TTN	c.2856G>A	NM_001267550.2	NP_001254479.2:p.(Val952=)	NC_000002.11:g.179647777C>T	(Likely) benign	1 lab	3771df5248
15:89414636 ACAN T>C	15	89414636	89414636	T	C	ACAN	c.6970T>C	NM_013227.3	NP_037359.3:p.(Trp2324Arg)	NC_000015.9:g.89414636T>C	VUS	1 lab	3778248490
10:73501595 CDH23 C>T	10	73501595	73501595	C	T	CDH23	c.4762C>T	NM_022124.5	NP_071407.4:p.(Arg1588Trp)	NC_000010.10:g.73501595C>T	VUS	1 lab	377adaeb9b
7:143018930 CLCN1 G>A	7	143018930	143018930	G	A	CLCN1	c.685G>A	NM_000083.2	NP_000074.2:p.(Val229Met)	NC_000007.13:g.143018930G>A	VUS	1 lab	377ddc6c36
16:68842473 CDH1 A>G	16	68842473	68842473	A	G	CDH1	c.531+3A>G	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68842473A>G	(Likely) benign	1 lab	377e92e5fb
2:167141070 SCN9A C>T	2	167141070	167141070	C	T	SCN9A	c.1867G>A	NM_002977.3	NP_002968.1:p.(Asp623Asn)	NC_000002.11:g.167141070C>T	(Likely) pathogenic	1 lab	3782c18b83
4:619635 PDE6B C>T	4	619635	619635	C	T	PDE6B	c.220C>T	NM_000283.3	NP_000274.2:p.(Arg74Cys)	NC_000004.11:g.619635C>T	VUS	1 lab	3ecae2ea69
4:187201211 F11 A>G	4	187201211	187201211	A	G	F11	c.801A>G	NM_000128.3	NP_000119.1:p.(Thr267=)	NC_000004.11:g.187201211A>G	(Likely) benign	1 lab	379ede9423
1:228462028 OBSCN ATGG>A	1	228462028	228462034	ATGG	A	OBSCN	c.6695_6697del	NM_001271223.2	NP_001258152.2:p.(Val2232del)	NC_000001.10:g.228462032_228462034del	(Likely) benign	1 lab	378d09afb8
1:151384250 POGZ G>C	1	151384250	151384250	G	C	POGZ	c.1780-3C>G	NM_015100.3	NP_055915.2:p.?	NC_000001.10:g.151384250G>C	(Likely) pathogenic	1 lab	378dbde922
1:78395123 NEXN A>C	1	78395123	78395123	A	C	NEXN	c.987A>C	NM_144573.3	NP_653174.3:p.(Ala329=)	NC_000001.10:g.78395123A>C	(Likely) benign	1 lab	378e364f6e
2:45169904 SIX3 T>G	2	45169904	45169904	T	G	SIX3	c.661T>G	NM_005413.4	NP_005404.1:p.(Leu221Val)	NC_000002.11:g.45169904T>G	(Likely) pathogenic	1 lab	3792bf51fb
1:160313469 NCSTN C>T	1	160313469	160313469	C	T	NCSTN	c.85+198C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160313469C>T	(Likely) benign	1 lab	05013aacd8
X:70375090 NLGN3 G>A	X	70375090	70375090	G	A	NLGN3	c.604G>A	NM_181303.1	NP_851820.1:p.(Val202Ile)	NC_000023.10:g.70375090G>A	VUS	1 lab	37936f30d0
8:96276004 CFAP418 T>C	8	96276004	96276004	T	C	CFAP418	c.156-2A>G	NM_177965.4	NP_808880.1:p.?	NC_000008.10:g.96276004T>C	(Likely) pathogenic	1 lab	3794562443
11:118007766 SCN4B C>T	11	118007766	118007766	C	T	SCN4B	c.663G>A	NM_174934.4	NP_777594.1:p.(Glu221=)	NC_000011.9:g.118007766C>T	(Likely) benign	1 lab	3794767522
1:152286367 FLG C>A	1	152286367	152286367	C	A	FLG	c.995G>T	NM_002016.1	NP_002007.1:p.(Gly332Val)	NC_000001.10:g.152286367C>A	(Likely) benign	1 lab	379493e290
22:36710183 MYH9 T>C	22	36710183	36710183	T	C	MYH9	c.1554+7A>G	NM_002473.4	NP_002464.1:p.?	NC_000022.10:g.36710183T>C	(Likely) benign	1 lab	3796268e43
2:73651967 MISSING C>T	2	73651967	73651967	C	T	MISSING				NC_000002.11:g.73651967C>T	(Likely) benign	1 lab	379e2485d1
2:135883820 RAB3GAP1 G>A	2	135883820	135883820	G	A	RAB3GAP1	c.899+1G>A	NM_001172435.1	NP_001165906.1:p.?	NC_000002.11:g.135883820G>A	(Likely) pathogenic	1 lab	379e3bf0fe
1:100327924 AGL G>C	1	100327924	100327924	G	C	AGL	c.405G>C	NM_000028.2	NP_000019.2:p.(Lys135Asn)	NC_000001.10:g.100327924G>C	VUS	1 lab	37a0cdc86c
1:78401582 NEXN T>C	1	78401582	78401582	T	C	NEXN	c.1326T>C	NM_144573.3	NP_653174.3:p.(Ser442=)	NC_000001.10:g.78401582T>C	(Likely) benign	1 lab	37a3604bd5
17:10590076 SCO1 G>A	17	10590076	10590076	G	A	SCO1	c.739C>T	NM_004589.4	NP_004580.1:p.(Pro247Ser)	NC_000017.10:g.10590076G>A	VUS	1 lab	37a4fbac98
2:25057384 ADCY3 G>A	2	25057384	25057384	G	A	ADCY3	c.1937C>T	NM_004036.4	NP_004027.2:p.(Thr646Met)	NC_000002.11:g.25057384G>A	VUS	1 lab	37ad20a7a9
3:10085280 FANCD2 A>G	3	10085280	10085280	A	G	FANCD2	c.1098+4A>G	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10085280A>G	(Likely) benign	1 lab	37adde3226
12:27817346 PPFIBP1 C>T	12	27817346	27817346	C	T	PPFIBP1	c.958C>T	NM_003622.3	NP_003613.3:p.(Gln320Ter)	NC_000012.11:g.27817346C>T	(Likely) pathogenic	1 lab	37aeb19220
X:152991175 ABCD1 C>T	X	152991175	152991175	C	T	ABCD1	c.454C>T	NM_000033.3	NP_000024.2:p.(Arg152Cys)	NC_000023.10:g.152991175C>T	(Likely) pathogenic	1 lab	37af188445
3:10191479 VHL C>G	3	10191479	10191479	C	G	VHL	c.472C>G	NM_000551.3	NP_000542.1:p.(Leu158Val)	NC_000003.11:g.10191479C>G	(Likely) pathogenic	1 lab	37b3005b89
20:62321073 RTEL1 C>T	20	62321073	62321073	C	T	RTEL1	c.2098-30C>T	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62321073C>T	(Likely) benign	1 lab	37b697c5f0
3:37042468 MLH1 G>A	3	37042468	37042468	G	A	MLH1	c.230G>A	NM_000249.4	NP_000240.1:p.(Cys77Tyr)	NC_000003.11:g.37042468G>A	(Likely) pathogenic	1 lab	37b7ff99a6
X:107418885 COL4A6 C>G	X	107418885	107418885	C	G	COL4A6	c.2880G>C	NM_001287758.1	NP_001274687.1:p.(Lys960Asn)	NC_000023.10:g.107418885C>G	VUS	1 lab	37ba201345
2:179432745 TTN T>C	2	179432745	179432745	T	C	TTN	c.78114A>G	NM_001267550.2	NP_001254479.2:p.(Thr26038=)	NC_000002.11:g.179432745T>C	(Likely) benign	1 lab	37c0447fad
5:149759094 TCOF1 G>A	5	149759094	149759094	G	A	TCOF1	c.2659-1G>A	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149759094G>A	(Likely) pathogenic	1 lab	37c0899a9b
6:112452319 LAMA4 A>G	6	112452319	112452319	A	G	LAMA4	c.3835-16T>C	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112452319A>G	(Likely) benign	1 lab	37c36374af
2:179528597 TTN C>T	2	179528597	179528597	C	T	TTN	c.36397G>A	NM_001267550.2	NP_001254479.2:p.(Glu12133Lys)	NC_000002.11:g.179528597C>T	(Likely) benign	1 lab	37c39ccadd
15:48829901 FBN1 G>A	15	48829901	48829901	G	A	FBN1	c.643C>T	NM_000138.4	NP_000129.3:p.(Arg215Ter)	NC_000015.9:g.48829901G>A	(Likely) pathogenic	1 lab	37c46449a1
19:1222011 STK11 C>T	19	1222011	1222011	C	T	STK11	c.920+6C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222011C>T	(Likely) benign	1 lab	37c661db2b
X:591622 SHOX CG>C	X	591622	591624	CG	C	SHOX	c.-9del	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591624del	VUS	1 lab	37c84b9209
2:1895977 MYT1L G>T	2	1895977	1895977	G	T	MYT1L	c.2109C>A	NM_015025.3	NP_055840.2:p.(Cys703Ter)	NC_000002.11:g.1895977G>T	(Likely) pathogenic	1 lab	37c917b530
2:44547360 SLC3A1 C>T	2	44547360	44547360	C	T	SLC3A1	c.1640C>T	NM_000341.3	NP_000332.2:p.(Ser547Leu)	NC_000002.11:g.44547360C>T	(Likely) pathogenic	1 lab	37ca196b65
X:20174232 RPS6KA3 C>T	X	20174232	20174232	C	T	RPS6KA3	c.2095G>A	NM_004586.2	NP_004577.1:p.(Val699Ile)	NC_000023.10:g.20174232C>T	(Likely) pathogenic	1 lab	37cb4b359d
9:98270494 PTCH1 CAG>C	9	98270494	98270497	CAG	C	PTCH1	c.148_149del	NM_000264.4	NP_000255.2:p.(Leu50AlafsTer39)	NC_000009.11:g.98270496_98270497del	VUS	1 lab	37cbae21a1
11:64517847 PYGM C>T	11	64517847	64517847	C	T	PYGM	c.2177+1G>A	NM_005609.2	NP_005600.1:p.?	NC_000011.9:g.64517847C>T	(Likely) pathogenic	1 lab	37cf10120b
7:47917120 PKD1L1 G>T	7	47917120	47917120	G	T	PKD1L1	c.3630C>A	NM_138295.4	NP_612152.1:p.(Thr1210=)	NC_000007.13:g.47917120G>T	(Likely) benign	1 lab	37d32c0a16
2:202617868 ALS2 C>T	2	202617868	202617868	C	T	ALS2	c.1737+1G>A	NM_020919.3	NP_065970.2:p.?	NC_000002.11:g.202617868C>T	(Likely) pathogenic	1 lab	37d4e8b7a6
19:19307755 RFXANK T>C	19	19307755	19307755	T	C	RFXANK	c.188-17T>C	NM_003721.2	NP_003712.1:p.?	NC_000019.9:g.19307755T>C	(Likely) benign	1 lab	0502b3f636
15:67008775 SMAD6 A>G	15	67008775	67008775	A	G	SMAD6	c.891A>G	NM_005585.4	NP_005576.3:p.(Thr297=)	NC_000015.9:g.67008775A>G	(Likely) benign	1 lab	37d6251a69
1:196871610 CFHR4 A>T	1	196871610	196871610	A	T	CFHR4	c.121A>T	NM_001201550.3	NP_001188479.1:p.(Arg41Ter)	NC_000001.10:g.196871610A>T	VUS	1 lab	37db05a17b
X:79281202 TBX22 G>A	X	79281202	79281202	G	A	TBX22	c.559G>A	NM_001109878.2	NP_001103348.1:p.(Glu187Lys)	NC_000023.10:g.79281202G>A	(Likely) benign	1 lab	0506d52dc7
11:108199779 ATM A>C	11	108199779	108199779	A	C	ATM	c.7121A>C	NM_000051.3	NP_000042.3:p.(Glu2374Ala)	NC_000011.9:g.108199779A>C	(Likely) benign	1 lab	37e04d04b7
6:49579919 RHAG T>C	6	49579919	49579919	T	C	RHAG	c.945+191A>G	NM_000324.2	NP_000315.2:p.?	NC_000006.11:g.49579919T>C	(Likely) benign	1 lab	050df801a4
21:47423523 COL6A1 C>T	21	47423523	47423523	C	T	COL6A1	c.2683C>T	NM_001848.2	NP_001839.2:p.(Gln895Ter)	NC_000021.8:g.47423523C>T	(Likely) pathogenic	1 lab	37e6c53bc0
1:17349119 SDHB G>A	1	17349119	17349119	G	A	SDHB	c.749C>T	NM_003000.2	NP_002991.2:p.(Thr250Ile)	NC_000001.10:g.17349119G>A	VUS	1 lab	37f228e91a
8:124525510 FBXO32 A>C	8	124525510	124525510	A	C	FBXO32	c.579T>G	NM_058229.3	NP_478136.1:p.(Ile193Met)	NC_000008.10:g.124525510A>C	VUS	1 lab	37f240227e
X:152991167 ABCD1 G>A	X	152991167	152991167	G	A	ABCD1	c.446G>A	NM_000033.3	NP_000024.2:p.(Ser149Asn)	NC_000023.10:g.152991167G>A	(Likely) pathogenic	1 lab	37f4972f4c
2:44053619 ABCG5 T>G	2	44053619	44053619	T	G	ABCG5	c.676A>C	NM_022436.3	NP_071881.1:p.(Met226Leu)	NC_000002.11:g.44053619T>G	VUS	1 lab	12534a3015
3:37045911 MLH1 A>C	3	37045911	37045911	A	C	MLH1	c.326A>C	NM_000249.3	NP_000240.1:p.(His109Pro)	NC_000003.11:g.37045911A>C	(Likely) pathogenic	1 lab	37f59cfde5
12:6076781 VWF G>A	12	6076781	6076781	G	A	VWF	c.7771-13C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6076781G>A	(Likely) benign	1 lab	37fb222b5d
3:189585662 TP63 G>A	3	189585662	189585662	G	A	TP63	c.923G>A	NM_003722.5	NP_003713.3:p.(Cys308Tyr)	NC_000003.11:g.189585662G>A	(Likely) pathogenic	1 lab	37fe3011c3
2:47708005 MSH2 A>T	2	47708005	47708005	A	T	MSH2	c.2629A>T	NM_000251.2	NP_000242.1:p.(Arg877Ter)	NC_000002.11:g.47708005A>T	(Likely) pathogenic	1 lab	38037dd6c1
8:143957671 CYP11B1 C>G	8	143957671	143957671	C	G	CYP11B1	c.940G>C	NM_000497.3	NP_000488.3:p.(Gly314Arg)	NC_000008.10:g.143957671C>G	(Likely) pathogenic	1 lab	3804845e09
2:145157167 ZEB2 C>T	2	145157167	145157167	C	T	ZEB2	c.1587G>A	NM_014795.3	NP_055610.1:p.(Thr529=)	NC_000002.11:g.145157167C>T	(Likely) benign	1 lab	38067a3010
5:78181626 ARSB C>T	5	78181626	78181626	C	T	ARSB	c.923G>A	NM_000046.4	NP_000037.2:p.(Gly308Glu)	NC_000005.9:g.78181626C>T	VUS	1 lab	3806f37aa6
5:171299938 FBXW11 G>GC	5	171299938	171299942	G	GC	FBXW11	c.1277dup	NM_001378974.1	NP_001365903.1:p.(Ile427HisfsTer13)	NC_000005.9:g.171299942dup	VUS	1 lab	380d6bf4f3
X:105280427 SERPINA7 C>T	X	105280427	105280427	C	T	SERPINA7	c.622+1G>A	NM_000354.6	NP_000345.2:p.?	NC_000023.10:g.105280427C>T	VUS	1 lab	380ed994a3
3:37053358 MLH1 G>A	3	37053358	37053358	G	A	MLH1				NC_000003.11:g.37053358G>A	(Likely) pathogenic	1 lab	38121b7588
13:23927927 SACS G>A	13	23927927	23927927	G	A	SACS	c.2182C>T	NM_014363.4	NP_055178.3:p.(Arg728Ter)	NC_000013.10:g.23927927G>A	(Likely) pathogenic	1 lab	3813e8b2ce
1:247588057 NLRP3 A>C	1	247588057	247588057	A	C	NLRP3	c.1306A>C	NM_001243133.2	NP_001230062.1:p.(Thr436Pro)	NC_000001.10:g.247588057A>C	(Likely) pathogenic	1 lab	051706e9e1
5:149323969 PDE6A G>A	5	149323969	149323969	G	A	PDE6A	c.268C>T	NM_000440.2	NP_000431.2:p.(Gln90Ter)	NC_000005.9:g.149323969G>A	(Likely) pathogenic	1 lab	3818ae62c9
3:48698381 CELSR3 CTG>C	3	48698381	48698387	CTG	C	CELSR3				NC_000003.11:g.48698386_48698387del	VUS	1 lab	38c62cf736
20:62038596 KCNQ2 C>G	20	62038596	62038596	C	G	KCNQ2	c.2020G>C	NM_172107.4	NP_742105.1:p.(Glu674Gln)	NC_000020.10:g.62038596C>G	VUS	1 lab	381e03181e
1:215901575 USH2A A>G	1	215901575	215901575	A	G	USH2A	c.11863T>C	NM_206933.2	NP_996816.2:p.(Trp3955Arg)	NC_000001.10:g.215901575A>G	VUS	1 lab	3821844111
11:6640011 TPP1 T>C	11	6640011	6640011	T	C	TPP1	c.225A>G	NM_000391.3	NP_000382.3:p.(Gln75=)	NC_000011.9:g.6640011T>C	VUS	1 lab	38228cc241
7:107312682 SLC26A4 A>G	7	107312682	107312682	A	G	SLC26A4	c.404A>G	NM_000441.1	NP_000432.1:p.(His135Arg)	NC_000007.13:g.107312682A>G	VUS	1 lab	382370929c
1:237778079 RYR2 A>T	1	237778079	237778079	A	T	RYR2	c.5651A>T	NM_001035.3	NP_001026.2:p.(Lys1884Met)	NC_000001.10:g.237778079A>T	(Likely) benign	1 lab	38248a5cac
11:19209640 CSRP3 T>C	11	19209640	19209640	T	C	CSRP3	c.281+43A>G	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19209640T>C	(Likely) benign	1 lab	382517d635
2:179615153 TTN T>C	2	179615153	179615153	T	C	TTN	c.11974A>G	NM_133379.4	NP_596870.2:p.(Ile3992Val)	NC_000002.11:g.179615153T>C	(Likely) benign	1 lab	3825552baa
6:42672273 PRPH2 G>A	6	42672273	42672273	G	A	PRPH2	c.658C>T	NM_000322.4	NP_000313.2:p.(Arg220Trp)	NC_000006.11:g.42672273G>A	VUS	1 lab	3828de08d2
6:33154457 COL11A2 G>A	6	33154457	33154457	G	A	COL11A2	c.745C>T	NM_080680.2	NP_542411.2:p.(Gln249Ter)	NC_000006.11:g.33154457G>A	(Likely) pathogenic	1 lab	382bbe0e1a
21:47535786 COL6A2 G>A	21	47535786	47535786	G	A	COL6A2	c.802G>A	NM_001849.3	NP_001840.3:p.(Gly268Ser)	NC_000021.8:g.47535786G>A	(Likely) pathogenic	1 lab	382ccae2e5
4:80899317 ANTXR2 A>AC	4	80899317	80899321	A	AC	ANTXR2	c.1190dup	NM_058172.5	NP_477520.2:p.(Asp398Ter)	NC_000004.11:g.80899321dup	(Likely) pathogenic	1 lab	382d9efcb6
X:73962951 NEXMIF G>A	X	73962951	73962951	G	A	NEXMIF	c.1441C>T	NM_001008537.3	NP_001008537.1:p.(Arg481Ter)	NC_000023.10:g.73962951G>A	(Likely) pathogenic	1 lab	382f0e656d
17:78184941 SGSH G>A	17	78184941	78184941	G	A	SGSH	c.950-131C>T	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78184941G>A	VUS	1 lab	0314f8a613
13:32915023 BRCA2 T>C	13	32915023	32915023	T	C	BRCA2	c.6531T>C	NM_000059.4	NP_000050.3:p.(Ile2177=)	NC_000013.10:g.32915023T>C	(Likely) benign	1 lab	383165af46
6:129380951 LAMA2 T>A	6	129380951	129380951	T	A	LAMA2	c.306T>A	NM_000426.3	NP_000417.2:p.(Ala102=)	NC_000006.11:g.129380951T>A	(Likely) benign	1 lab	38395daa18
1:197396761 CRB1 G>A	1	197396761	197396761	G	A	CRB1	c.2306G>A	NM_201253.2	NP_957705.1:p.(Arg769His)	NC_000001.10:g.197396761G>A	(Likely) benign	1 lab	3840762224
3:46899905 MYL3 T>C	3	46899905	46899905	T	C	MYL3	c.528A>G	NM_000258.2	NP_000249.1:p.(Gln176=)	NC_000003.11:g.46899905T>C	(Likely) benign	1 lab	38477c8fb4
3:52436659 BAP1 T>C	3	52436659	52436659	T	C	BAP1	c.2015A>G	NM_004656.4	NP_004647.1:p.(Asp672Gly)	NC_000003.11:g.52436659T>C	(Likely) pathogenic	1 lab	3848961742
8:48878813 MCM4 A>G	8	48878813	48878813	A	G	MCM4	c.899A>G	NM_005914.4	NP_005905.2:p.(Gln300Arg)	NC_000008.10:g.48878813A>G	(Likely) benign	1 lab	05183ee860
6:33651105 ITPR3 G>A	6	33651105	33651105	G	A	ITPR3	c.4719G>A	NM_002224.3	NP_002215.2:p.(Thr1573=)	NC_000006.11:g.33651105G>A	(Likely) benign	1 lab	05189c96c9
2:179458169 TTN G>T	2	179458169	179458169	G	T	TTN	c.58766C>A	NM_001267550.2	NP_001254479.2:p.(Thr19589Lys)	NC_000002.11:g.179458169G>T	(Likely) benign	1 lab	38498c6c4f
7:128489588 FLNC C>T	7	128489588	128489588	C	T	FLNC	c.5155C>T	NM_001458.4	NP_001449.3:p.(Arg1719Cys)	NC_000007.13:g.128489588C>T	VUS	1 lab	384a778272
3:38812897 SCN10A A>C	3	38812897	38812897	A	C	SCN10A	c.472T>G	NM_006514.3	NP_006505.3:p.(Tyr158Asp)	NC_000003.11:g.38812897A>C	VUS	1 lab	384e149732
19:39018280 RYR1 C>T	19	39018280	39018280	C	T	RYR1	c.10687-7C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39018280C>T	(Likely) benign	1 lab	384e3f9a2e
9:139410085 NOTCH1 C>T	9	139410085	139410085	C	T	NOTCH1	c.1753G>A	NM_017617.3	NP_060087.3:p.(Ala585Thr)	NC_000009.11:g.139410085C>T	VUS	1 lab	384fb2450f
12:53040534 KRT2 C>T	12	53040534	53040534	C	T	KRT2	c.1459G>A	NM_000423.3	NP_000414.2:p.(Glu487Lys)	NC_000012.11:g.53040534C>T	(Likely) pathogenic	1 lab	38549c2c81
3:38591831 SCN5A T>G	3	38591831	38591831	T	G	SCN5A	c.6029A>C	NM_000335.5	NP_000326.2:p.(Asp2010Ala)	NC_000003.11:g.38591831T>G	VUS	1 lab	3856f79854
13:25466774 CENPJ T>C	13	25466774	25466774	T	C	CENPJ				NC_000013.10:g.25466774T>C	(Likely) benign	1 lab	436fce419f
16:84256410 KCNG4 C>T	16	84256410	84256410	C	T	KCNG4	c.973G>A	NM_172347.2	NP_758857.1:p.(Gly325Arg)	NC_000016.9:g.84256410C>T	(Likely) benign	1 lab	38572659e5
6:52288754 EFHC1 T>C	6	52288754	52288754	T	C	EFHC1	c.74T>C	NM_018100.3	NP_060570.2:p.(Phe25Ser)	NC_000006.11:g.52288754T>C	VUS	1 lab	385a5f1b8f
1:201039530 CACNA1S C>T	1	201039530	201039530	C	T	CACNA1S	c.2230G>A	NM_000069.2	NP_000060.2:p.(Asp744Asn)	NC_000001.10:g.201039530C>T	VUS	1 lab	385ad2dce4
20:42744499 JPH2 C>A	20	42744499	42744499	C	A	JPH2	c.1816G>T	NM_020433.4	NP_065166.2:p.(Ala606Ser)	NC_000020.10:g.42744499C>A	(Likely) benign	1 lab	385c1ede9e
13:32954222 BRCA2 C>G	13	32954222	32954222	C	G	BRCA2	c.9196C>G	NM_000059.3	NP_000050.2:p.(Gln3066Glu)	NC_000013.10:g.32954222C>G	(Likely) benign	1 lab	385c7c8b40
10:95557490 LGI1 T>C	10	95557490	95557490	T	C	LGI1	c.1604T>C	NM_005097.4	NP_005088.1:p.(Phe535Ser)	NC_000010.10:g.95557490T>C	VUS	1 lab	385c945ca7
11:44253980 EXT2 G>A	11	44253980	44253980	G	A	EXT2	c.1740G>A	NM_207122.2	NP_997005.1:p.(Trp580Ter)	NC_000011.9:g.44253980G>A	(Likely) pathogenic	1 lab	385d0cf496
2:145154036 ZEB2 A>G	2	145154036	145154036	A	G	ZEB2	c.3010T>C	NM_014795.3	NP_055610.1:p.(Cys1004Arg)	NC_000002.11:g.145154036A>G	(Likely) pathogenic	1 lab	3863feb7c6
17:7915826 GUCY2D G>A	17	7915826	7915826	G	A	GUCY2D	c.2015G>A	NM_000180.3	NP_000171.1:p.(Cys672Tyr)	NC_000017.10:g.7915826G>A	(Likely) pathogenic	1 lab	38642443bb
8:61654491 CHD7 C>T	8	61654491	61654491	C	T	CHD7	c.500C>T	NM_017780.3	NP_060250.2:p.(Pro167Leu)	NC_000008.10:g.61654491C>T	VUS	1 lab	3865b957f3
2:71753481 DYSF G>A	2	71753481	71753481	G	A	DYSF	c.1180+5G>A	NM_003494.3	NP_003485.1:p.?	NC_000002.11:g.71753481G>A	VUS	1 lab	eccfea5922
7:151269890 PRKAG2 T>A	7	151269890	151269890	T	A	PRKAG2	c.1006-95A>T	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151269890T>A	(Likely) benign	1 lab	386878812a
3:38835462 SCN10A G>A	3	38835462	38835462	G	A	SCN10A	c.40C>T	NM_006514.4	NP_006505.4:p.(Arg14Cys)	NC_000003.11:g.38835462G>A	VUS	1 lab	386a2e9fe0
7:73467535 ELN C>T	7	73467535	73467535	C	T	ELN	c.992C>T	NM_001278939.1	NP_001265868.1:p.(Pro331Leu)	NC_000007.13:g.73467535C>T	(Likely) benign	1 lab	386d7353de
19:6495972 TUBB4A C>T	19	6495972	6495972	C	T	TUBB4A				NC_000019.9:g.6495972C>T	VUS	1 lab	38717a8a18
2:189867731 COL3A1 G>A	2	189867731	189867731	G	A	COL3A1	c.2496G>A	NM_000090.3	NP_000081.1:p.(Glu832=)	NC_000002.11:g.189867731G>A	(Likely) benign	1 lab	0521bb458b
11:2869210 KCNQ1 A>C	11	2869210	2869210	A	C	KCNQ1	c.2008A>C	NM_000218.2	NP_000209.2:p.(Arg670=)	NC_000011.9:g.2869210A>C	(Likely) benign	1 lab	387381b15a
2:227942819 COL4A4 T>C	2	227942819	227942819	T	C	COL4A4	c.1804-26A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227942819T>C	VUS	1 lab	3876909d7a
19:42474655 ATP1A3 T>C	19	42474655	42474655	T	C	ATP1A3	c.2303A>G	NM_152296.4	NP_689509.1:p.(Tyr768Cys)	NC_000019.9:g.42474655T>C	VUS	1 lab	387a26541e
22:29130402 CHEK2 A>T	22	29130402	29130402	A	T	CHEK2	c.308T>A	NM_007194.4	NP_009125.1:p.(Phe103Tyr)	NC_000022.10:g.29130402A>T	(Likely) benign	1 lab	387afbdc55
11:108183113 ATM A>G	11	108183113	108183113	A	G	ATM	c.5919-25A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108183113A>G	(Likely) benign	1 lab	387e54131d
6:88258357 RARS2 T>C	6	88258357	88258357	T	C	RARS2	c.403A>G	NM_020320.5	NP_064716.2:p.(Asn135Asp)	NC_000006.11:g.88258357T>C	VUS	1 lab	38811c6bff
2:228120800 COL4A3 T>C	2	228120800	228120800	T	C	COL4A3	c.933+14T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228120800T>C	(Likely) benign	1 lab	3881ae7832
13:32971165 BRCA2 C>T	13	32971165	32971165	C	T	BRCA2	c.9632C>T	NM_000059.4	NP_000050.3:p.(Thr3211Ile)	NC_000013.10:g.32971165C>T	(Likely) benign	1 lab	38858b2cb0
17:4837070 GP1BA C>T	17	4837070	4837070	C	T	GP1BA	c.1171C>T	NM_000173.7	NP_000164.5:p.(Pro391Ser)	NC_000017.10:g.4837070C>T	(Likely) benign	1 lab	052413a42e
12:2783737 CACNA1C G>A	12	2783737	2783737	G	A	CACNA1C	c.4757G>A	NM_000719.6	NP_000710.5:p.(Arg1586Gln)	NC_000012.11:g.2783737G>A	VUS	1 lab	3887c3affe
X:153197875 NAA10 G>A	X	153197875	153197875	G	A	NAA10	c.235C>T	NM_003491.3	NP_003482.1:p.(Arg79Cys)	NC_000023.10:g.153197875G>A	VUS	1 lab	388a1b01cb
16:88799116 PIEZO1 G>A	16	88799116	88799116	G	A	PIEZO1	c.2689C>T	NM_001142864.4	NP_001136336.2:p.(Leu897=)	NC_000016.9:g.88799116G>A	(Likely) benign	1 lab	0525a0dcb7
3:189582133 TP63 A>G	3	189582133	189582133	A	G	TP63	c.692A>G	NM_003722.4	NP_003713.3:p.(Tyr231Cys)	NC_000003.11:g.189582133A>G	(Likely) pathogenic	1 lab	388ee64118
12:56088226 ITGA7 C>T	12	56088226	56088226	C	T	ITGA7	c.2357+1G>A	NM_002206.2	NP_002197.2:p.?	NC_000012.11:g.56088226C>T	(Likely) pathogenic	1 lab	38904cf0c4
10:27512350 ACBD5 A>G	10	27512350	27512350	A	G	ACBD5	c.407T>C	NM_145698.3	NP_663736.2:p.(Val136Ala)	NC_000010.10:g.27512350A>G	VUS	1 lab	3892dc648c
2:216242917 FN1 T>A	2	216242917	216242917	T	A	FN1	c.5691A>T	NM_212482.2	NP_997647.1:p.(Gly1897=)	NC_000002.11:g.216242917T>A	(Likely) benign	1 lab	38960253d3
10:112044612 MXI1 A>T	10	112044612	112044612	A	T	MXI1	c.554A>T	NM_005962.4	NP_005953.4:p.(Glu185Val)	NC_000010.10:g.112044612A>T	(Likely) benign	1 lab	389b2d6b59
6:66112491 EYS A>T	6	66112491	66112491	A	T	EYS	c.1064T>A	NM_001142800.1	NP_001136272.1:p.(Met355Lys)	NC_000006.11:g.66112491A>T	(Likely) benign	1 lab	389b305622
11:22248847 ANO5 G>A	11	22248847	22248847	G	A	ANO5				NC_000011.9:g.22248847G>A	(Likely) pathogenic	1 lab	38a13e4e9a
5:161522717 GABRG2 T>G	5	161522717	161522717	T	G	GABRG2				NC_000005.9:g.161522717T>G	(Likely) benign	1 lab	05274d1269
10:89653768 PTEN A>G	10	89653768	89653768	A	G	PTEN	c.80-14A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89653768A>G	(Likely) benign	1 lab	38a28208a2
X:152991569 ABCD1 A>G	X	152991569	152991569	A	G	ABCD1	c.848A>G	NM_000033.3	NP_000024.2:p.(His283Arg)	NC_000023.10:g.152991569A>G	VUS	1 lab	38a73180e2
X:32382685 DMD A>T	X	32382685	32382685	A	T	DMD	c.5154+14T>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32382685A>T	(Likely) benign	1 lab	05293e5e24
2:179611959 TTN C>T	2	179611959	179611959	C	T	TTN	c.15168G>A	NM_133379.3	NP_596870.2:p.(Gly5056=)	NC_000002.11:g.179611959C>T	(Likely) benign	1 lab	38af7049a1
11:3829526 PGAP2 A>G	11	3829526	3829526	A	G	PGAP2	c.142A>G	NM_001256236.1	NP_001243165.1:p.(Arg48Gly)	NC_000011.9:g.3829526A>G	VUS	1 lab	38b2f4076d
X:13786120 OFD1 A>C	X	13786120	13786120	A	C	OFD1	c.2758-53A>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13786120A>C	(Likely) benign	1 lab	052a6873f2
X:154064200 F8 C>T	X	154064200	154064200	C	T	F8	c.*1672G>A	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154064200C>T	(Likely) benign	1 lab	052ab5696b
11:108168067 ATM TC>T	11	108168067	108168069	TC	T	ATM	c.4965del	NM_000051.3	NP_000042.3:p.(Lys1656ArgfsTer4)	NC_000011.9:g.108168069del	(Likely) pathogenic	1 lab	38b8e39ac0
X:153171395 AVPR2 G>C	X	153171395	153171395	G	C	AVPR2	c.435G>C	NM_000054.4	NP_000045.1:p.(Met145Ile)	NC_000023.10:g.153171395G>C	VUS	1 lab	38b917bc09
2:230656879 TRIP12 T>A	2	230656879	230656879	T	A	TRIP12	c.4208A>T	NM_001348328.1	NP_001335257.1:p.(Asp1403Val)	NC_000002.11:g.230656879T>A	VUS	1 lab	38c0ce4dbc
2:179595682 TTN T>C	2	179595682	179595682	T	C	TTN	c.17710A>G	NM_001267550.2	NP_001254479.2:p.(Ser5904Gly)	NC_000002.11:g.179595682T>C	(Likely) benign	1 lab	38c1b15f1d
17:18071002 MYO15A G>T	17	18071002	18071002	G	T	MYO15A	c.10047G>T	NM_016239.3	NP_057323.3:p.(Gln3349His)	NC_000017.10:g.18071002G>T	VUS	1 lab	38c3b2f955
2:47637239 MSH2 C>T	2	47637239	47637239	C	T	MSH2	c.373C>T	NM_000251.3	NP_000242.1:p.(Pro125Ser)	NC_000002.11:g.47637239C>T	VUS	1 lab	38c50e5e0c
7:151878575 KMT2C T>C	7	151878575	151878575	T	C	KMT2C	c.6370A>G	NM_170606.3	NP_733751.2:p.(Arg2124Gly)	NC_000007.13:g.151878575T>C	(Likely) benign	1 lab	38c9b454be
14:51096645 ATL1 A>AAAT	14	51096645	51096646	A	AAAT	ATL1	c.1552-68_1552-67insAAT	NM_015915.4	NP_056999.2:p.?	NC_000014.8:g.51096645_51096646insAAT	(Likely) benign	1 lab	38ca7b8b45
9:129377849 LMX1B G>A	9	129377849	129377849	G	A	LMX1B	c.326+1G>A	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129377849G>A	(Likely) pathogenic	1 lab	38d8251a3c
X:2856167 ARSL G>A	X	2856167	2856167	G	A	ARSL	c.1258C>T	NM_000047.2	NP_000038.2:p.(Arg420Trp)	NC_000023.10:g.2856167G>A	(Likely) pathogenic	1 lab	38d9b76be5
17:44108906 KANSL1 A>G	17	44108906	44108906	A	G	KANSL1				NC_000017.10:g.44108906A>G	(Likely) benign	1 lab	38d9ecf4f0
10:112541581 RBM20 T>G	10	112541581	112541581	T	G	RBM20	c.1214T>G	NM_001134363.3	NP_001127835.2:p.(Val405Gly)	NC_000010.10:g.112541581T>G	(Likely) benign	1 lab	38dac5fa9b
11:533476 HRAS C>T	11	533476	533476	C	T	HRAS	c.427G>A	NM_005343.3	NP_005334.1:p.(Glu143Lys)	NC_000011.9:g.533476C>T	VUS	1 lab	38db1fccac
17:41222960 BRCA1 C>T	17	41222960	41222960	C	T	BRCA1	c.5034G>A	NM_007300.4	NP_009231.2:p.(Leu1678=)	NC_000017.10:g.41222960C>T	VUS	1 lab	052e823a15
X:153609146 EMD G>A	X	153609146	153609146	G	A	EMD	c.433G>A	NM_000117.2	NP_000108.1:p.(Glu145Lys)	NC_000023.10:g.153609146G>A	(Likely) benign	1 lab	38deeebcb1
11:47498407 CELF1 A>G	11	47498407	47498407	A	G	CELF1	c.1078T>C	NM_001330272.1	NP_001317201.1:p.(Ser360Pro)	NC_000011.9:g.47498407A>G	VUS	1 lab	38dfb1d219
10:124216410 ARMS2 A>G	10	124216410	124216410	A	G	ARMS2	c.298-13A>G	NM_001099667.3	NP_001093137.1:p.?	NC_000010.10:g.124216410A>G	(Likely) benign	1 lab	38e3edab02
12:6134824 VWF G>A	12	6134824	6134824	G	A	VWF	c.3144C>T	NM_000552.3	NP_000543.2:p.(Asn1048=)	NC_000012.11:g.6134824G>A	(Likely) benign	1 lab	390c53214f
6:152631031 SYNE1 C>T	6	152631031	152631031	C	T	SYNE1	c.17141G>A	NM_182961.3	NP_892006.3:p.(Arg5714Gln)	NC_000006.11:g.152631031C>T	(Likely) benign	1 lab	38e8053eb4
1:247588343 NLRP3 A>T	1	247588343	247588343	A	T	NLRP3				NC_000001.10:g.247588343A>T	VUS	1 lab	38fdcdb3cd
4:3514695 LRPAP1 A>G	4	3514695	3514695	A	G	LRPAP1				NC_000004.11:g.3514695A>G	(Likely) benign	1 lab	38fdd143aa
8:61765637 CHD7 A>G	8	61765637	61765637	A	G	CHD7				NC_000008.10:g.61765637A>G	(Likely) benign	1 lab	39008f5ff7
4:155529767 FGG C>T	4	155529767	155529767	C	T	FGG	c.702G>A	NM_000509.5	NP_000500.2:p.(Trp234Ter)	NC_000004.11:g.155529767C>T	(Likely) pathogenic	1 lab	39037225a8
17:7577099 TP53 C>T	17	7577099	7577099	C	T	TP53	c.839G>A	NM_000546.5	NP_000537.3:p.(Arg280Lys)	NC_000017.10:g.7577099C>T	(Likely) pathogenic	1 lab	3903d31ab5
19:35524610 SCN1B G>A	19	35524610	35524610	G	A	SCN1B				NC_000019.9:g.35524610G>A	VUS	1 lab	3903d7fef8
21:38437902 PIGP CT>C	21	38437902	38437905	CT	C	PIGP	c.456del	NM_153681.2	NP_710148.1:p.(Glu153AsnfsTer34)	NC_000021.8:g.38437905del	VUS	1 lab	3903db3091
12:81051764 MISSING A>G	12	81051764	81051764	A	G	MISSING				NC_000012.11:g.81051764A>G	(Likely) benign	1 lab	3904627b89
16:23649291 PALB2 A>C	16	23649291	23649291	A	C	PALB2	c.109-18T>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649291A>C	(Likely) benign	1 lab	39057e7cfa
1:202710636 KDM5B A>C	1	202710636	202710636	A	C	KDM5B	c.2912T>G	NM_001314042.1	NP_001300971.1:p.(Leu971Ter)	NC_000001.10:g.202710636A>C	(Likely) pathogenic	1 lab	39078abb77
5:145719658 POU4F3 T>C	5	145719658	145719658	T	C	POU4F3	c.668T>C	NM_002700.3	NP_002691.1:p.(Leu223Pro)	NC_000005.9:g.145719658T>C	(Likely) pathogenic	1 lab	390a89ef5f
11:64523008 PYGM TC>T	11	64523008	64523009	TC	T	PYGM	c.682del	NM_005609.4	NP_005600.1:p.(Asp228IlefsTer67)	NC_000011.9:g.64523009del	VUS	1 lab	390e4e1cad
2:227872182 COL4A4 G>A	2	227872182	227872182	G	A	COL4A4	c.4932C>T	NM_000092.4	NP_000083.3:p.(Phe1644=)	NC_000002.11:g.227872182G>A	(Likely) benign	1 lab	3910e74ae5
13:32919384 BRCA2 T>G	13	32919384	32919384	T	G	BRCA2	c.6937+594T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32919384T>G	(Likely) benign	1 lab	39130df2ab
17:62481846 POLG2 T>C	17	62481846	62481846	T	C	POLG2				NC_000017.10:g.62481846T>C	VUS	1 lab	3913606f06
8:38273448 FGFR1 C>G	8	38273448	38273448	C	G	FGFR1	c.1794G>C	NM_023110.2	NP_075598.2:p.(Lys598Asn)	NC_000008.10:g.38273448C>G	(Likely) benign	1 lab	3914c08a66
12:49579134 TUBA1A G>A	12	49579134	49579134	G	A	TUBA1A	c.1015C>T	NM_006009.3	NP_006000.2:p.(Arg339Cys)	NC_000012.11:g.49579134G>A	(Likely) pathogenic	1 lab	3918407ce2
1:3102765 PRDM16 C>T	1	3102765	3102765	C	T	PRDM16	c.114C>T	NM_022114.3	NP_071397.3:p.(Ala38=)	NC_000001.10:g.3102765C>T	(Likely) benign	1 lab	39189ac889
4:41270037 UCHL1 C>T	4	41270037	41270037	C	T	UCHL1	c.619C>T	NM_004181.5	NP_004172.2:p.(Arg207Cys)	NC_000004.11:g.41270037C>T	VUS	1 lab	3919e4fee1
22:37465094 TMPRSS6 G>A	22	37465094	37465094	G	A	TMPRSS6	c.2140+19C>T	NM_153609.3	NP_705837.1:p.?	NC_000022.10:g.37465094G>A	(Likely) benign	1 lab	391acc46c4
2:179422426 TTN C>CTTGGCGAAA	2	179422426	179422427	C	CTTGGCGAAA	TTN	c.87654_87655insTTTCGCCAA	NM_001267550.2	NP_001254479.2:p.(Phe29218_Gly29219insPheArgGln)	NC_000002.11:g.179422426_179422427insTTGGCGAAA	VUS	1 lab	391cb45d60
2:47635660 MSH2 C>T	2	47635660	47635660	C	T	MSH2	c.332C>T	NM_000251.2	NP_000242.1:p.(Ala111Val)	NC_000002.11:g.47635660C>T	(Likely) benign	1 lab	391db9d7fd
20:10630929 JAG1 G>A	20	10630929	10630929	G	A	JAG1	c.1200C>T	NM_000214.2	NP_000205.1:p.(Cys400=)	NC_000020.10:g.10630929G>A	(Likely) benign	1 lab	392152a463
1:47882600 FOXE3 T>G	1	47882600	47882600	T	G	FOXE3	c.613T>G	NM_012186.2	NP_036318.1:p.(Ser205Ala)	NC_000001.10:g.47882600T>G	(Likely) benign	1 lab	39245f7f78
2:48032095 MSH6 C>A	2	48032095	48032095	C	A	MSH6	c.3485C>A	NM_000179.3	NP_000170.1:p.(Ala1162Asp)	NC_000002.11:g.48032095C>A	(Likely) pathogenic	1 lab	39285c166b
5:112176008 APC G>T	5	112176008	112176008	G	T	APC	c.4717G>T	NM_000038.5	NP_000029.2:p.(Glu1573Ter)	NC_000005.9:g.112176008G>T	(Likely) pathogenic	1 lab	3928821be3
19:38942452 RYR1 C>T	19	38942452	38942452	C	T	RYR1				NC_000019.9:g.38942452C>T	VUS	1 lab	3929309b96
3:43121436 POMGNT2 G>A	3	43121436	43121436	G	A	POMGNT2				NC_000003.11:g.43121436G>A	(Likely) benign	1 lab	392eef2727
2:31805801 SRD5A2 T>C	2	31805801	31805801	T	C	SRD5A2	c.170A>G	NM_000348.4	NP_000339.2:p.(Glu57Gly)	NC_000002.11:g.31805801T>C	VUS	1 lab	393639046a
17:62022073 SCN4A A>T	17	62022073	62022073	A	T	SCN4A	c.3872T>A	NM_000334.4	NP_000325.4:p.(Ile1291Asn)	NC_000017.10:g.62022073A>T	VUS	1 lab	3936869c3f
2:179477289 TTN G>A	2	179477289	179477289	G	A	TTN	c.49963C>T	NM_001267550.2	NP_001254479.2:p.(Pro16655Ser)	NC_000002.11:g.179477289G>A	VUS	1 lab	3937f820d6
2:27278055 AGBL5 G>A	2	27278055	27278055	G	A	AGBL5	c.842G>A	NM_021831.6	NP_068603.4:p.(Arg281His)	NC_000002.11:g.27278055G>A	VUS	1 lab	393872f6d4
1:94474329 ABCA4 A>C	1	94474329	94474329	A	C	ABCA4	c.5813T>G	NM_000350.2	NP_000341.2:p.(Leu1938Ter)	NC_000001.10:g.94474329A>C	(Likely) pathogenic	1 lab	39397ce8f0
1:45797417 MUTYH TG>T	1	45797417	45797423	TG	T	MUTYH	c.1101del	NM_001128425.1	NP_001121897.1:p.(Arg368GlyfsTer40)	NC_000001.10:g.45797423del	(Likely) pathogenic	1 lab	393d663ae9
8:10465088 RP1L1 G>A	8	10465088	10465088	G	A	RP1L1	c.6520C>T	NM_178857.6	NP_849188.4:p.(Gln2174Ter)	NC_000008.10:g.10465088G>A	(Likely) pathogenic	1 lab	393e041557
22:36695079 MYH9 G>T	22	36695079	36695079	G	T	MYH9	c.2986C>A	NM_002473.5	NP_002464.1:p.(Leu996Met)	NC_000022.10:g.36695079G>T	VUS	1 lab	393ec0f7b8
X:133551301 PHF6 T>A	X	133551301	133551301	T	A	PHF6	c.937T>A	NM_001015877.1	NP_001015877.1:p.(Tyr313Asn)	NC_000023.10:g.133551301T>A	(Likely) pathogenic	1 lab	39461d7f70
21:45709767 AIRE C>G	21	45709767	45709767	C	G	AIRE	c.798+82C>G	NM_000383.3	NP_000374.1:p.?	NC_000021.8:g.45709767C>G	(Likely) benign	1 lab	3949536843
10:104386934 SUFU T>C	10	104386934	104386934	T	C	SUFU	c.1299T>C	NM_016169.3	NP_057253.2:p.(Ile433=)	NC_000010.10:g.104386934T>C	(Likely) benign	1 lab	394988bb71
7:150652445 KCNH2 CGG>C	7	150652445	150652447	CGG	C	KCNH2	c.108+37_108+38del	NM_172057.2	NP_742054.1:p.?	NC_000007.13:g.150652446_150652447del	(Likely) benign	1 lab	394bb765a7
3:8787829 CAV3 C>T	3	8787829	8787829	C	T	CAV3	c.*180C>T	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8787829C>T	(Likely) benign	1 lab	394d9b30e3
12:13720061 GRIN2B G>C	12	13720061	13720061	G	C	GRIN2B	c.2496C>G	NM_000834.5	NP_000825.2:p.(Ser832Arg)	NC_000012.11:g.13720061G>C	VUS	1 lab	394ece1d36
13:20763677 GJB2 T>G	13	20763677	20763677	T	G	GJB2	c.44A>C	NM_004004.5	NP_003995.2:p.(Lys15Thr)	NC_000013.10:g.20763677T>G	VUS	1 lab	394f10f436
3:47045998 NBEAL2 G>C	3	47045998	47045998	G	C	NBEAL2	c.6212G>C	NM_015175.2	NP_055990.1:p.(Arg2071Pro)	NC_000003.11:g.47045998G>C	VUS	1 lab	3953ea314f
17:37343130 CACNB1 A>G	17	37343130	37343130	A	G	CACNB1				NC_000017.10:g.37343130A>G	VUS	1 lab	3953fc0554
X:69670507 DLG3 C>T	X	69670507	69670507	C	T	DLG3	c.859C>T	NM_021120.3	NP_066943.2:p.(Gln287Ter)	NC_000023.10:g.69670507C>T	(Likely) pathogenic	1 lab	3956274421
4:103517449 NFKB1 G>A	4	103517449	103517449	G	A	NFKB1	c.1455G>A	NM_003998.4	NP_003989.2:p.(Thr485=)	NC_000004.11:g.103517449G>A	VUS	1 lab	0537d760f1
1:201335899 TNNT2 C>T	1	201335899	201335899	C	T	TNNT2	c.203+67G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201335899C>T	(Likely) benign	1 lab	39578c6893
8:71499169 TRAM1 GA>G	8	71499169	71499172	GA	G	TRAM1	c.706del	NM_014294.5	NP_055109.1:p.(Ser236ProfsTer28)	NC_000008.10:g.71499172del	VUS	1 lab	39598c6d97
16:15797880 MYH11 C>T	16	15797880	15797880	C	T	MYH11	c.5908G>A	NM_001040114.1	NP_001035203.1:p.(Ala1970Thr)	NC_000016.9:g.15797880C>T	VUS	1 lab	053c9535fd
11:108173579 ATM GT>G	11	108173579	108173584	GT	G	ATM	c.5324del	NM_000051.4	NP_000042.3:p.(Leu1775Ter)	NC_000011.9:g.108173584del	(Likely) pathogenic	1 lab	395f4c1f59
21:46924424 COL18A1 CCGGCCCCCCAGGCCCCCCA>C	21	46924424	46924443	CCGGCCCCCCAGGCCCCCCA	C	COL18A1	c.2823_2841del	NM_001379500.1	NP_001366429.1:p.(Gly942AlafsTer83)	NC_000021.8:g.46924425_46924443del	(Likely) pathogenic	1 lab	395fccbdd0
15:65917738 SLC24A1 C>G	15	65917738	65917738	C	G	SLC24A1	c.1320C>G	NM_004727.2	NP_004718.1:p.(Tyr440Ter)	NC_000015.9:g.65917738C>G	(Likely) pathogenic	1 lab	3961d6dfc3
3:10392083 ATP2B2 T>TC	3	10392083	10392088	T	TC	ATP2B2	c.2314dup	NM_001001331.2	NP_001001331.1:p.(Glu772GlyfsTer3)	NC_000003.11:g.10392088dup	(Likely) pathogenic	1 lab	3964a86fa6
22:35947782 MISSING C>G	22	35947782	35947782	C	G	MISSING				NC_000022.10:g.35947782C>G	VUS	1 lab	3969edc7dd
6:91263182 MAP3K7 T>C	6	91263182	91263182	T	C	MAP3K7	c.731A>G	NM_145331.2	NP_663304.1:p.(His244Arg)	NC_000006.11:g.91263182T>C	VUS	1 lab	396c23e0bd
12:49421038 KMT2D C>T	12	49421038	49421038	C	T	KMT2D	c.14711G>A	NM_003482.3	NP_003473.3:p.(Arg4904Gln)	NC_000012.11:g.49421038C>T	(Likely) benign	1 lab	3970db34bd
6:33412399 SYNGAP1 G>A	6	33412399	33412399	G	A	SYNGAP1				NC_000006.11:g.33412399G>A	(Likely) benign	1 lab	3974d6a2c6
3:52441976 BAP1 C>A	3	52441976	52441976	C	A	BAP1	c.373G>T	NM_004656.3	NP_004647.1:p.(Glu125Ter)	NC_000003.11:g.52441976C>A	(Likely) pathogenic	1 lab	39756285f3
6:7581415 DSP G>C	6	7581415	7581415	G	C	DSP	c.4992G>C	NM_004415.3	NP_004406.2:p.(Leu1664=)	NC_000006.11:g.7581415G>C	(Likely) benign	1 lab	3977fa0a78
2:32314671 SPAST C>G	2	32314671	32314671	C	G	SPAST	c.583C>G	NM_014946.3	NP_055761.2:p.(Leu195Val)	NC_000002.11:g.32314671C>G	VUS	1 lab	3979c33d2b
1:94485298 ABCA4 T>A	1	94485298	94485298	T	A	ABCA4	c.5036A>T	NM_000350.2	NP_000341.2:p.(Asp1679Val)	NC_000001.10:g.94485298T>A	VUS	1 lab	3981bd6b71
2:179397349 TTN GG>CC	2	179397349	179397350	GG	CC	TTN	c.103992_103993inv	NM_001267550.2	NP_001254479.2:p.(Leu34665Val)	NC_000002.11:g.179397349_179397350inv	VUS	1 lab	398306952f
X:41205495 DDX3X G>GA	X	41205495	41205496	G	GA	DDX3X	c.1330dup	NM_001356.4	NP_001347.3:p.(Thr444AsnfsTer21)	NC_000023.10:g.41205496dup	(Likely) pathogenic	1 lab	3983502cc1
6:143095257 HIVEP2 G>GT	6	143095257	143095263	G	GT	HIVEP2	c.618dup	NM_006734.3	NP_006725.3:p.(His207ThrfsTer38)	NC_000006.11:g.143095263dup	(Likely) pathogenic	1 lab	39849aa150
17:57762957 CLTC C>T	17	57762957	57762957	C	T	CLTC	c.4615C>T	NM_004859.3	NP_004850.1:p.(Gln1539Ter)	NC_000017.10:g.57762957C>T	VUS	1 lab	3986040826
11:108202705 ATM G>A	11	108202705	108202705	G	A	ATM	c.7729G>A	NM_000051.4	NP_000042.3:p.(Val2577Ile)	NC_000011.9:g.108202705G>A	(Likely) benign	1 lab	3996220b89
1:116932282 ATP1A1 G>A	1	116932282	116932282	G	A	ATP1A1	c.976G>A	NM_000701.7	NP_000692.2:p.(Gly326Ser)	NC_000001.10:g.116932282G>A	VUS	1 lab	399c3eec63
9:98239964 PTCH1 G>GTA	9	98239964	98239965	G	GTA	PTCH1	c.1367_1368insTA	NM_000264.5	NP_000255.2:p.(Met457ThrfsTer35)	NC_000009.11:g.98239964_98239965insTA	(Likely) pathogenic	1 lab	399c900fee
14:23873021 MYH6 C>T	14	23873021	23873021	C	T	MYH6	c.736-34G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23873021C>T	(Likely) benign	1 lab	399df0c963
4:103556009 MANBA G>C	4	103556009	103556009	G	C	MANBA	c.2351C>G	NM_005908.4	NP_005899.3:p.(Pro784Arg)	NC_000004.11:g.103556009G>C	(Likely) benign	1 lab	054127565d
6:76599857 MYO6 G>GA	6	76599857	76599866	G	GA	MYO6	c.2751dup	NM_004999.3	NP_004990.3:p.(Gln918ThrfsTer24)	NC_000006.11:g.76599866dup	(Likely) pathogenic	1 lab	39a24b3e55
7:128481243 FLNC C>T	7	128481243	128481243	C	T	FLNC	c.1833C>T	NM_001458.4	NP_001449.3:p.(Pro611=)	NC_000007.13:g.128481243C>T	(Likely) benign	1 lab	39a630ec75
2:227983368 COL4A4 C>A	2	227983368	227983368	C	A	COL4A4	c.482G>T	NM_000092.4	NP_000083.3:p.(Gly161Val)	NC_000002.11:g.227983368C>A	VUS	1 lab	39a97fa7f4
2:179440289 TTN T>C	2	179440289	179440289	T	C	TTN	c.70570A>G	NM_001267550.2	NP_001254479.2:p.(Thr23524Ala)	NC_000002.11:g.179440289T>C	(Likely) benign	1 lab	39ac9a4bc0
17:29661898 NF1 G>A	17	29661898	29661898	G	A	NF1	c.5792G>A	NM_000267.3	NP_000258.1:p.(Trp1931Ter)	NC_000017.10:g.29661898G>A	(Likely) pathogenic	1 lab	39af8d0de1
12:112892433 PTPN11 T>G	12	112892433	112892433	T	G	PTPN11	c.591T>G	NM_002834.3	NP_002825.3:p.(Tyr197Ter)	NC_000012.11:g.112892433T>G	(Likely) benign	1 lab	054460bf5c
16:2142109 PKD1 CAACGTCGT>C	16	2142109	2142119	CAACGTCGT	C	PKD1	c.11342_11349del	NM_001009944.2	NP_001009944.2:p.(Tyr3781TrpfsTer32)	NC_000016.9:g.2142112_2142119del	(Likely) pathogenic	1 lab	39b1518d94
1:152276149 FLG C>T	1	152276149	152276149	C	T	FLG	c.11213G>A	NM_002016.1	NP_002007.1:p.(Arg3738His)	NC_000001.10:g.152276149C>T	(Likely) benign	1 lab	39b3381ba2
11:17548588 USH1C CT>C	11	17548588	17548589	CT	C	USH1C	c.497-2del	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17548589del	(Likely) pathogenic	1 lab	39b4857108
6:32006341 CYP21A2 T>C	6	32006341	32006341	T	C	CYP21A2	c.142T>C	NM_000500.7	NP_000491.4:p.(Tyr48His)	NC_000006.11:g.32006341T>C	(Likely) benign	1 lab	39bd30d690
5:1294646 TERT C>T	5	1294646	1294646	C	T	TERT	c.355G>A	NM_198253.2	NP_937983.2:p.(Val119Met)	NC_000005.9:g.1294646C>T	(Likely) pathogenic	1 lab	39bf2da8f8
2:39249842 SOS1 C>A	2	39249842	39249842	C	A	SOS1	c.1727G>T	NM_005633.4	NP_005624.2:p.(Arg576Ile)	NC_000002.11:g.39249842C>A	VUS	1 lab	39bfbd6307
12:2797745 CACNA1C C>A	12	2797745	2797745	C	A	CACNA1C	c.5917C>A	NM_000719.6	NP_000710.5:p.(Arg1973=)	NC_000012.11:g.2797745C>A	(Likely) benign	1 lab	39c246fa66
7:87046801 ABCB4 G>A	7	87046801	87046801	G	A	ABCB4	c.2509C>T	NM_000443.4	NP_000434.1:p.(Gln837Ter)	NC_000007.13:g.87046801G>A	(Likely) pathogenic	1 lab	05463da3f0
8:118849345 EXT1 A>G	8	118849345	118849345	A	G	EXT1	c.1056+2T>C	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.118849345A>G	(Likely) pathogenic	1 lab	39c38f04cc
14:68191854 RDH12 G>C	14	68191854	68191854	G	C	RDH12	c.226G>C	NM_152443.2	NP_689656.2:p.(Gly76Arg)	NC_000014.8:g.68191854G>C	(Likely) pathogenic	1 lab	39c7769726
12:49428008 KMT2D G>C	12	49428008	49428008	G	C	KMT2D	c.10582C>G	NM_003482.4	NP_003473.3:p.(Leu3528Val)	NC_000012.11:g.49428008G>C	(Likely) pathogenic	1 lab	39c7ec3c78
9:35689949 TPM2 A>T	9	35689949	35689949	A	T	TPM2				NC_000009.11:g.35689949A>T	(Likely) benign	1 lab	39c80147b4
1:118439606 GDAP2 G>A	1	118439606	118439606	G	A	GDAP2	c.802C>T	NM_017686.3	NP_060156.1:p.(Gln268Ter)	NC_000001.10:g.118439606G>A	(Likely) pathogenic	1 lab	39c8e39a36
6:32813421 TAP1 G>T	6	32813421	32813421	G	T	TAP1	c.2362C>A	NM_000593.5	NP_000584.2:p.(Gln788Lys)	NC_000006.11:g.32813421G>T	(Likely) benign	1 lab	05505127a3
17:18051467 MYO15A G>A	17	18051467	18051467	G	A	MYO15A	c.6634G>A	NM_016239.3	NP_057323.3:p.(Glu2212Lys)	NC_000017.10:g.18051467G>A	(Likely) pathogenic	1 lab	39ebf059fc
1:215990406 USH2A C>A	1	215990406	215990406	C	A	USH2A	c.9503G>T	NM_206933.2	NP_996816.2:p.(Cys3168Phe)	NC_000001.10:g.215990406C>A	VUS	1 lab	39ce13d076
7:91708891 AKAP9 T>C	7	91708891	91708891	T	C	AKAP9	c.7444T>C	NM_005751.5	NP_005742.4:p.(Tyr2482His)	NC_000007.13:g.91708891T>C	(Likely) benign	1 lab	39cf7211b2
19:6719205 C3 C>T	19	6719205	6719205	C	T	C3	c.267+17G>A	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6719205C>T	(Likely) benign	1 lab	39d03408b0
20:42741488 JPH2 G>A	20	42741488	42741488	G	A	JPH2	c.*670C>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42741488G>A	(Likely) benign	1 lab	39d06d2fb0
X:153583047 FLNA G>T	X	153583047	153583047	G	T	FLNA	c.5226C>A	NM_001456.3	NP_001447.2:p.(Pro1742=)	NC_000023.10:g.153583047G>T	(Likely) benign	1 lab	39d24a2efe
3:100961723 IMPG2 G>A	3	100961723	100961723	G	A	IMPG2	c.2831C>T	NM_016247.3	NP_057331.2:p.(Thr944Met)	NC_000003.11:g.100961723G>A	VUS	1 lab	39d3109b28
3:58121803 FLNB T>C	3	58121803	58121803	T	C	FLNB	c.4769T>C	NM_001457.4	NP_001448.2:p.(Ile1590Thr)	NC_000003.11:g.58121803T>C	(Likely) pathogenic	1 lab	39d6cfa9e3
6:137191088 PEX7 C>T	6	137191088	137191088	C	T	PEX7	c.694C>T	NM_000288.3	NP_000279.1:p.(Arg232Ter)	NC_000006.11:g.137191088C>T	(Likely) pathogenic	1 lab	39d924bcb1
10:112540622 RBM20 A>C	10	112540622	112540622	A	C	RBM20	c.255A>C	NM_001134363.2	NP_001127835.2:p.(Ser85=)	NC_000010.10:g.112540622A>C	(Likely) benign	1 lab	39dbec8051
4:155665693 LRAT A>C	4	155665693	155665693	A	C	LRAT	c.215A>C	NM_004744.5	NP_004735.2:p.(His72Pro)	NC_000004.11:g.155665693A>C	VUS	1 lab	39de573d65
22:29108079 CHEK2 C>G	22	29108079	29108079	C	G	CHEK2	c.684-74G>C	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29108079C>G	(Likely) benign	1 lab	3a05d42da3
22:38511665 PLA2G6 G>A	22	38511665	38511665	G	A	PLA2G6	c.1903C>T	NM_003560.4	NP_003551.2:p.(Arg635Ter)	NC_000022.10:g.38511665G>A	(Likely) pathogenic	1 lab	0557139fcb
16:81242151 PKD1L2 T>C	16	81242151	81242151	T	C	PKD1L2	c.705A>G	NM_001076780.1	NP_001070248.1:p.(Gly235=)	NC_000016.9:g.81242151T>C	(Likely) benign	1 lab	39ee2d0881
10:112544564 RBM20 C>T	10	112544564	112544564	C	T	RBM20	c.1444C>T	NM_001134363.2	NP_001127835.2:p.(Leu482Phe)	NC_000010.10:g.112544564C>T	(Likely) benign	1 lab	39eeb24573
3:49168970 LAMB2 C>T	3	49168970	49168970	C	T	LAMB2	c.646G>A	NM_002292.3	NP_002283.3:p.(Glu216Lys)	NC_000003.11:g.49168970C>T	VUS	1 lab	39f4632411
15:35082425 ACTC1 C>A	15	35082425	35082425	C	A	ACTC1	c.*188G>T	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35082425C>A	(Likely) benign	1 lab	39f60c446f
X:77150933 MAGT1 G>C	X	77150933	77150933	G	C	MAGT1	c.71C>G	NM_032121.5	NP_115497.4:p.(Ser24Ter)	NC_000023.10:g.77150933G>C	VUS	1 lab	39fe9510c3
5:171295802 FBXW11 T>C	5	171295802	171295802	T	C	FBXW11	c.1366-2A>G	NM_033645.2	NP_387449.2:p.?	NC_000005.9:g.171295802T>C	VUS	1 lab	39fef3b2f9
18:13915537 MC2R A>G	18	13915537	13915537	A	G	MC2R				NC_000018.9:g.13915537A>G	VUS	1 lab	39ff8a0cc2
10:97446149 TCTN3 C>T	10	97446149	97446149	C	T	TCTN3	c.888+103G>A	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97446149C>T	(Likely) benign	1 lab	055cd86a3d
10:75802821 VCL G>T	10	75802821	75802821	G	T	VCL	c.169-20G>T	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75802821G>T	(Likely) benign	1 lab	3a0064ea72
22:19766941 TBX1 C>T	22	19766941	19766941	C	T	TBX1				NC_000022.10:g.19766941C>T	(Likely) benign	1 lab	3a01812df8
1:9780830 PIK3CD C>T	1	9780830	9780830	C	T	PIK3CD	c.1552C>T	NM_005026.5	NP_005017.3:p.(Arg518Trp)	NC_000001.10:g.9780830C>T	VUS	1 lab	3a025dc9e0
10:88446898 LDB3 G>T	10	88446898	88446898	G	T	LDB3	c.417G>T	NM_001080116.1	NP_001073585.1:p.(Glu139Asp)	NC_000010.10:g.88446898G>T	VUS	1 lab	3a0388c9e4
17:39914786 JUP CA>C	17	39914786	39914787	CA	C	JUP	c.1654-17del	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39914787del	(Likely) benign	1 lab	3a075da236
6:33405974 SYNGAP1 T>C	6	33405974	33405974	T	C	SYNGAP1	c.1292T>C	NM_006772.3	NP_006763.2:p.(Leu431Pro)	NC_000006.11:g.33405974T>C	VUS	1 lab	3a083a463c
2:183989186 NUP35 A>G	2	183989186	183989186	A	G	NUP35	c.1A>G	NM_138285.4	NP_612142.2:p.(Met1?)	NC_000002.11:g.183989186A>G	VUS	1 lab	3a0bfb38fc
X:32481596 DMD A>G	X	32481596	32481596	A	G	DMD	c.3392T>C	NM_004006.2	NP_003997.1:p.(Leu1131Pro)	NC_000023.10:g.32481596A>G	VUS	1 lab	3a17e40a6b
11:2683152 KCNQ1 T>G	11	2683152	2683152	T	G	KCNQ1	c.1394-39T>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2683152T>G	(Likely) benign	1 lab	3a190b4cd8
4:120072023 MYOZ2 A>AT	4	120072023	120072024	A	AT	MYOZ2				NC_000004.11:g.120072023_120072024insT	(Likely) benign	1 lab	3a1ba414c9
14:23887549 MYH7 A>T	14	23887549	23887549	A	T	MYH7	c.4039T>A	NM_000257.4	NP_000248.2:p.(Tyr1347Asn)	NC_000014.8:g.23887549A>T	VUS	1 lab	3a1bc60370
1:120460398 NOTCH2 A>T	1	120460398	120460398	A	T	NOTCH2	c.5930-13T>A	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120460398A>T	(Likely) benign	1 lab	055fff3c33
16:56938352 SLC12A3 C>T	16	56938352	56938352	C	T	SLC12A3	c.2929C>T	NM_000339.3	NP_000330.3:p.(Arg977Ter)	NC_000016.9:g.56938352C>T	(Likely) pathogenic	1 lab	3a1d4015f3
9:136522187 DBH A>G	9	136522187	136522187	A	G	DBH	c.1563-5A>G	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136522187A>G	(Likely) benign	1 lab	3a1e212afa
7:97488195 ASNS G>A	7	97488195	97488195	G	A	ASNS	c.746C>T	NM_001673.5	NP_001664.3:p.(Thr249Ile)	NC_000007.13:g.97488195G>A	(Likely) pathogenic	1 lab	3a1e434a7e
16:2164294 PKD1 G>A	16	2164294	2164294	G	A	PKD1	c.2730C>T	NM_001009944.2	NP_001009944.2:p.(Asp910=)	NC_000016.9:g.2164294G>A	(Likely) benign	1 lab	3a24e49501
16:23635331 PALB2 TG>T	16	23635331	23635332	TG	T	PALB2	c.2832del	NM_024675.4	NP_078951.2:p.(Arg945GlyfsTer17)	NC_000016.9:g.23635332del	(Likely) pathogenic	1 lab	3a28f91633
X:133609245 HPRT1 A>G	X	133609245	133609245	A	G	HPRT1	c.169A>G	NM_000194.3	NP_000185.1:p.(Met57Val)	NC_000023.10:g.133609245A>G	VUS	1 lab	056ae40328
1:216246214 USH2A T>G	1	216246214	216246214	T	G	USH2A	c.5857+17A>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216246214T>G	(Likely) benign	1 lab	3a2bad5000
9:77376647 TRPM6 T>C	9	77376647	77376647	T	C	TRPM6	c.4750A>G	NM_017662.4	NP_060132.3:p.(Lys1584Glu)	NC_000009.11:g.77376647T>C	(Likely) benign	1 lab	3a2dd5fe8a
14:23886264 MYH7 C>T	14	23886264	23886264	C	T	MYH7	c.4520-63G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886264C>T	(Likely) benign	1 lab	3a311c87de
X:107840667 COL4A5 A>T	X	107840667	107840667	A	T	COL4A5	c.1648A>T	NM_033380.3	NP_203699.1:p.(Ile550Phe)	NC_000023.10:g.107840667A>T	VUS	1 lab	3a315088ff
5:112137005 APC C>G	5	112137005	112137005	C	G	APC	c.759C>G	NM_000038.6	NP_000029.2:p.(Gly253=)	NC_000005.9:g.112137005C>G	(Likely) benign	1 lab	3a3418fbee
16:15844116 MYH11 T>C	16	15844116	15844116	T	C	MYH11	c.1937A>G	NM_002474.3	NP_002465.1:p.(Lys646Arg)	NC_000016.9:g.15844116T>C	VUS	1 lab	3a34e18097
1:226125407 LEFTY2 T>C	1	226125407	226125407	T	C	LEFTY2	c.835A>G	NM_003240.3	NP_003231.2:p.(Lys279Glu)	NC_000001.10:g.226125407T>C	(Likely) benign	1 lab	3a3794d716
7:128497334 FLNC T>A	7	128497334	128497334	T	A	FLNC	c.7724T>A	NM_001458.4	NP_001449.3:p.(Ile2575Asn)	NC_000007.13:g.128497334T>A	(Likely) pathogenic	1 lab	3a3b719f52
1:241677014 FH C>G	1	241677014	241677014	C	G	FH	c.268-1G>C	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241677014C>G	(Likely) pathogenic	1 lab	3a3c372db5
9:129455859 LMX1B G>C	9	129455859	129455859	G	C	LMX1B	c.798G>C	NM_002316.3	NP_002307.2:p.(Trp266Cys)	NC_000009.11:g.129455859G>C	(Likely) pathogenic	1 lab	3a3da4ca69
12:32996142 PKP2 C>G	12	32996142	32996142	C	G	PKP2	c.1379-2003G>C	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32996142C>G	(Likely) benign	1 lab	3a3f05e2ec
X:107844621 COL4A5 A>G	X	107844621	107844621	A	G	COL4A5	c.1949-2A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107844621A>G	(Likely) pathogenic	1 lab	3a40e0ae6b
17:10551884 MYH3 GAGTT>TTGTC	17	10551884	10551888	GAGTT	TTGTC	MYH3	c.721_725delinsGACAA	NM_002470.3	NP_002461.2:p.(Asn241_Ser242delinsAspAsn)	NC_000017.10:g.10551884_10551888delinsTTGTC	(Likely) pathogenic	1 lab	3a41f09af4
X:79973138 BRWD3 G>T	X	79973138	79973138	G	T	BRWD3	c.2165C>A	NM_153252.5	NP_694984.5:p.(Thr722Asn)	NC_000023.10:g.79973138G>T	VUS	1 lab	3a42e28be2
1:160097388 ATP1A2 G>A	1	160097388	160097388	G	A	ATP1A2	c.795G>A	NM_000702.3	NP_000693.1:p.(Met265Ile)	NC_000001.10:g.160097388G>A	(Likely) benign	1 lab	3a48ae57c1
20:31998069 SNTA1 G>A	20	31998069	31998069	G	A	SNTA1	c.1109C>T	NM_003098.2	NP_003089.1:p.(Thr370Met)	NC_000020.10:g.31998069G>A	VUS	1 lab	3a4d92cc9e
2:179412113 TTN T>C	2	179412113	179412113	T	C	TTN	c.94219+21A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179412113T>C	(Likely) benign	1 lab	3a4f11e603
X:69253280 EDA C>T	X	69253280	69253280	C	T	EDA	c.826C>T	NM_001399.5	NP_001390.1:p.(Arg276Cys)	NC_000023.10:g.69253280C>T	(Likely) pathogenic	1 lab	3a4faf0565
7:42005849 GLI3 G>A	7	42005849	42005849	G	A	GLI3	c.2822C>T	NM_000168.6	NP_000159.3:p.(Pro941Leu)	NC_000007.13:g.42005849G>A	VUS	1 lab	3a519bac31
3:48613705 COL7A1 G>A	3	48613705	48613705	G	A	COL7A1	c.5797C>T	NM_000094.3	NP_000085.1:p.(Arg1933Ter)	NC_000003.11:g.48613705G>A	(Likely) pathogenic	1 lab	3a57164727
X:43662552 MAOB G>A	X	43662552	43662552	G	A	MAOB	c.379C>T	NM_000898.5	NP_000889.3:p.(Arg127Ter)	NC_000023.10:g.43662552G>A	VUS	1 lab	3a58229b1b
2:227875038 COL4A4 G>C	2	227875038	227875038	G	C	COL4A4	c.4513C>G	NM_000092.4	NP_000083.3:p.(Gln1505Glu)	NC_000002.11:g.227875038G>C	(Likely) pathogenic	1 lab	3a583c8fba
8:68007513 CSPP1 T>G	8	68007513	68007513	T	G	CSPP1	c.511-15T>G	NM_024790.6	NP_079066.5:p.?	NC_000008.10:g.68007513T>G	(Likely) benign	1 lab	056c9f0b00
1:196757881 CFHR3 G>T	1	196757881	196757881	G	T	CFHR3	c.613+353G>T	NM_021023.6	NP_066303.2:p.?	NC_000001.10:g.196757881G>T	(Likely) benign	1 lab	3a5ded99c5
15:67073549 SMAD6 C>T	15	67073549	67073549	C	T	SMAD6	c.1167C>T	NM_005585.4	NP_005576.3:p.(Phe389=)	NC_000015.9:g.67073549C>T	(Likely) benign	1 lab	3a5deedd37
10:55721599 PCDH15 G>T	10	55721599	55721599	G	T	PCDH15	c.2922C>A	NM_033056.3	NP_149045.3:p.(Tyr974Ter)	NC_000010.10:g.55721599G>T	(Likely) pathogenic	1 lab	3a60ffd309
3:71821901 PROK2 G>A	3	71821901	71821901	G	A	PROK2	c.364C>T	NM_001126128.1	NP_001119600.1:p.(Arg122Ter)	NC_000003.11:g.71821901G>A	VUS	1 lab	3a61df7400
2:47672803 MSH2 A>G	2	47672803	47672803	A	G	MSH2	c.1386+7A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672803A>G	VUS	1 lab	5124529d88
X:107836049 COL4A5 G>T	X	107836049	107836049	G	T	COL4A5	c.1423+1175G>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107836049G>T	(Likely) pathogenic	1 lab	3a659c84d2
10:18807262 CACNB2 C>T	10	18807262	18807262	C	T	CACNB2	c.640-3C>T	NM_000724.3	NP_000715.2:p.?	NC_000010.10:g.18807262C>T	(Likely) benign	1 lab	3a66ee127d
16:78420754 WWOX C>A	16	78420754	78420754	C	A	WWOX				NC_000016.9:g.78420754C>A	(Likely) benign	1 lab	3a68c188e6
16:23652511 PALB2 C>T	16	23652511	23652511	C	T	PALB2	c.-33G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23652511C>T	(Likely) benign	1 lab	3a6bcd0fcd
2:167149795 SCN9A G>A	2	167149795	167149795	G	A	SCN9A	c.1053C>T	NM_001365536.1	NP_001352465.1:p.(Phe351=)	NC_000002.11:g.167149795G>A	(Likely) benign	1 lab	3a6c1aeae5
15:48722873 FBN1 C>T	15	48722873	48722873	C	T	FBN1	c.6866G>A	NM_000138.5	NP_000129.3:p.(Cys2289Tyr)	NC_000015.9:g.48722873C>T	(Likely) pathogenic	1 lab	3a6c4ce203
15:42702183 CAPN3 C>T	15	42702183	42702183	C	T	CAPN3	c.2105C>T	NM_000070.2	NP_000061.1:p.(Ala702Val)	NC_000015.9:g.42702183C>T	VUS	1 lab	3a6d3eac16
6:47547083 CD2AP A>AAG	6	47547083	47547085	A	AAG	CD2AP	c.904-37_904-36dup	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47547084_47547085dup	(Likely) benign	1 lab	056f71fa53
3:38743403 SCN10A G>A	3	38743403	38743403	G	A	SCN10A	c.4584C>T	NM_006514.4	NP_006505.4:p.(Phe1528=)	NC_000003.11:g.38743403G>A	(Likely) benign	1 lab	3a6f6360cb
X:152991425 ABCD1 C>T	X	152991425	152991425	C	T	ABCD1	c.704C>T	NM_000033.4	NP_000024.2:p.(Ser235Phe)	NC_000023.10:g.152991425C>T	VUS	1 lab	3a71695ff3
3:42732481 KLHL40 C>A	3	42732481	42732481	C	A	KLHL40	c.1738C>A	NM_152393.4	NP_689606.2:p.(Leu580Ile)	NC_000003.11:g.42732481C>A	(Likely) benign	1 lab	05704486e4
17:41244677 BRCA1 CTGAGA>C	17	41244677	41244685	CTGAGA	C	BRCA1	c.2866_2870del	NM_007294.4	NP_009225.1:p.(Ser956ValfsTer13)	NC_000017.10:g.41244681_41244685del	(Likely) pathogenic	1 lab	3a7a13a667
2:112776979 MERTK C>A	2	112776979	112776979	C	A	MERTK	c.2080-11C>A	NM_006343.2	NP_006334.2:p.?	NC_000002.11:g.112776979C>A	(Likely) benign	1 lab	3a7cf3133f
4:77659983 SHROOM3 CCAGGGG>C	4	77659983	77659989	CCAGGGG	C	SHROOM3	c.658_663del	NM_020859.3	NP_065910.3:p.(Gln220_Gly221del)	NC_000004.11:g.77659984_77659989del	VUS	1 lab	3a7f691b7a
2:168108100 XIRP2 A>G	2	168108100	168108100	A	G	XIRP2	c.10198A>G	NM_152381.5	NP_689594.4:p.(Lys3400Glu)	NC_000002.11:g.168108100A>G	(Likely) benign	1 lab	3a7ff0504c
2:179468783 TTN G>T	2	179468783	179468783	G	T	TTN	c.54631C>A	NM_001267550.2	NP_001254479.2:p.(Pro18211Thr)	NC_000002.11:g.179468783G>T	(Likely) benign	1 lab	3a8001c4d6
3:46899929 MYL3 T>C	3	46899929	46899929	T	C	MYL3	c.504A>G	NM_000258.2	NP_000249.1:p.(Glu168=)	NC_000003.11:g.46899929T>C	(Likely) benign	1 lab	3a824979a8
20:42744491 JPH2 C>G	20	42744491	42744491	C	G	JPH2	c.1824G>C	NM_020433.4	NP_065166.2:p.(Thr608=)	NC_000020.10:g.42744491C>G	(Likely) benign	1 lab	3a82585e1d
4:657629 PDE6B T>G	4	657629	657629	T	G	PDE6B	c.1991T>G	NM_000283.4	NP_000274.3:p.(Ile664Ser)	NC_000004.11:g.657629T>G	VUS	1 lab	3a82be2dbb
X:79932343 BRWD3 C>T	X	79932343	79932343	C	T	BRWD3	c.5174G>A	NM_153252.4	NP_694984.4:p.(Arg1725Gln)	NC_000023.10:g.79932343C>T	VUS	1 lab	3a89cdae41
5:133536680 PPP2CA T>C	5	133536680	133536680	T	C	PPP2CA	c.572A>G	NM_002715.2	NP_002706.1:p.(His191Arg)	NC_000005.9:g.133536680T>C	(Likely) pathogenic	1 lab	3a8ad0cc2b
1:152275453 FLG G>A	1	152275453	152275453	G	A	FLG	c.11909C>T	NM_002016.1	NP_002007.1:p.(Ser3970Leu)	NC_000001.10:g.152275453G>A	(Likely) benign	1 lab	3a8e611481
12:122265645 SETD1B G>C	12	122265645	122265645	G	C	SETD1B	c.5474G>C	NM_001353345.1	NP_001340274.1:p.(Arg1825Pro)	NC_000012.11:g.122265645G>C	(Likely) pathogenic	1 lab	3a94cf4843
5:156898741 NIPAL4 G>A	5	156898741	156898741	G	A	NIPAL4	c.502G>A	NM_001099287.2	NP_001092757.2:p.(Gly168Arg)	NC_000005.9:g.156898741G>A	(Likely) pathogenic	1 lab	3a95eb4b7d
13:110804804 COL4A1 C>A	13	110804804	110804804	C	A	COL4A1	c.4805G>T	NM_001845.6	NP_001836.3:p.(Gly1602Val)	NC_000013.10:g.110804804C>A	VUS	1 lab	3a97752dad
18:42532287 SETBP1 C>G	18	42532287	42532287	C	G	SETBP1	c.2982C>G	NM_015559.2	NP_056374.2:p.(Tyr994Ter)	NC_000018.9:g.42532287C>G	(Likely) pathogenic	1 lab	3a983a132b
14:31348138 COCH T>C	14	31348138	31348138	T	C	COCH	c.361T>C	NM_004086.2	NP_004077.1:p.(Phe121Leu)	NC_000014.8:g.31348138T>C	(Likely) pathogenic	1 lab	3a99e800c1
1:228434292 OBSCN C>G	1	228434292	228434292	C	G	OBSCN	c.4097C>G	NM_001271223.2	NP_001258152.2:p.(Ala1366Gly)	NC_000001.10:g.228434292C>G	(Likely) benign	1 lab	3a9c46fc75
X:605329 SHOX G>C	X	605329	605329	G	C	SHOX	c.837G>C	NM_000451.3	NP_000442.1:p.(Leu279=)	NC_000023.10:g.605329G>C	(Likely) benign	1 lab	3a9cbfe528
18:42531907 SETBP1 G>A	18	42531907	42531907	G	A	SETBP1	c.2602G>A	NM_015559.2	NP_056374.2:p.(Asp868Asn)	NC_000018.9:g.42531907G>A	(Likely) pathogenic	1 lab	3a9cc5d047
1:94487401 ABCA4 C>T	1	94487401	94487401	C	T	ABCA4	c.4773+1G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94487401C>T	(Likely) pathogenic	1 lab	3a9d87a327
13:32914237 BRCA2 G>A	13	32914237	32914237	G	A	BRCA2	c.5745G>A	NM_000059.3	NP_000050.2:p.(Thr1915=)	NC_000013.10:g.32914237G>A	(Likely) benign	1 lab	3a9e51358c
4:184627996 TRAPPC11 C>G	4	184627996	184627996	C	G	TRAPPC11	c.3092C>G	NM_021942.5	NP_068761.4:p.(Pro1031Arg)	NC_000004.11:g.184627996C>G	VUS	1 lab	3aa1c2b036
2:48066582 FBXO11 A>C	2	48066582	48066582	A	C	FBXO11	c.418T>G	NM_001190274.2	NP_001177203.1:p.(Ser140Ala)	NC_000002.11:g.48066582A>C	VUS	1 lab	3aa51cd90e
7:155596046 SHH G>A	7	155596046	155596046	G	A	SHH	c.937C>T	NM_000193.3	NP_000184.1:p.(Gln313Ter)	NC_000007.13:g.155596046G>A	(Likely) pathogenic	1 lab	3aa8934d74
X:38147306 RPGR T>C	X	38147306	38147306	T	C	RPGR	c.1573-12A>G	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38147306T>C	(Likely) pathogenic	1 lab	3aae38a2ee
4:114239672 ANK2 G>A	4	114239672	114239672	G	A	ANK2	c.2797-1G>A	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114239672G>A	(Likely) pathogenic	1 lab	3aaee3fad2
6:7845577 BMP6 C>T	6	7845577	7845577	C	T	BMP6	c.857+12C>T	NM_001718.5	NP_001709.1:p.?	NC_000006.11:g.7845577C>T	(Likely) benign	1 lab	3ab6c0112e
1:169500210 F5 T>C	1	169500210	169500210	T	C	F5	c.5022A>G	NM_000130.4	NP_000121.2:p.(Gly1674=)	NC_000001.10:g.169500210T>C	(Likely) benign	1 lab	3ab819cbe9
6:129618847 LAMA2 A>G	6	129618847	129618847	A	G	LAMA2	c.2874A>G	NM_000426.3	NP_000417.2:p.(Leu958=)	NC_000006.11:g.129618847A>G	(Likely) benign	1 lab	3ab908a67b
X:53560305 MISSING T>G	X	53560305	53560305	T	G	MISSING				NC_000023.10:g.53560305T>G	(Likely) pathogenic	1 lab	3ab97404c0
13:32915366 BRCA2 A>G	13	32915366	32915366	A	G	BRCA2	c.6841+33A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915366A>G	(Likely) benign	1 lab	3adcd67031
2:228148516 COL4A3 CT>C	2	228148516	228148517	CT	C	COL4A3	c.2691del	NM_000091.4	NP_000082.2:p.(Gly898GlufsTer26)	NC_000002.11:g.228148517del	(Likely) pathogenic	1 lab	3abd8a855a
X:38156606 RPGR G>A	X	38156606	38156606	G	A	RPGR	c.1345C>T	NM_001034853.1	NP_001030025.1:p.(Arg449Ter)	NC_000023.10:g.38156606G>A	(Likely) pathogenic	1 lab	3abf051316
9:123954475 MISSING A>C	9	123954475	123954475	A	C	MISSING				NC_000009.11:g.123954475A>C	VUS	1 lab	3ac060a610
11:47360355 MYBPC3 C>T	11	47360355	47360355	C	T	MYBPC3	c.2149-125G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360355C>T	(Likely) benign	1 lab	3ac2de62a1
2:179600389 TTN G>A	2	179600389	179600389	G	A	TTN	c.14784C>T	NM_001267550.2	NP_001254479.2:p.(Leu4928=)	NC_000002.11:g.179600389G>A	(Likely) benign	1 lab	3ac404a85a
6:31635709 CSNK2B A>G	6	31635709	31635709	A	G	CSNK2B	c.137A>G	NM_001320.7	NP_001311.3:p.(Tyr46Cys)	NC_000006.11:g.31635709A>G	VUS	1 lab	3ac512d3f2
10:89624240 PTEN T>A	10	89624240	89624240	T	A	PTEN	c.14T>A	NM_000314.8	NP_000305.3:p.(Ile5Asn)	NC_000010.10:g.89624240T>A	(Likely) pathogenic	1 lab	3ac9767abc
5:149310680 PDE6A G>A	5	149310680	149310680	G	A	PDE6A	c.769C>T	NM_000440.2	NP_000431.2:p.(Arg257Ter)	NC_000005.9:g.149310680G>A	(Likely) pathogenic	1 lab	3accaedf3e
2:179586600 TTN A>G	2	179586600	179586600	A	G	TTN	c.22790T>C	NM_001267550.2	NP_001254479.2:p.(Met7597Thr)	NC_000002.11:g.179586600A>G	(Likely) benign	1 lab	3ace28650a
20:3063669 AVP G>C	20	3063669	3063669	G	C	AVP	c.276C>G	NM_000490.4	NP_000481.2:p.(Cys92Trp)	NC_000020.10:g.3063669G>C	(Likely) pathogenic	1 lab	3ad47f65a5
5:112177170 APC C>T	5	112177170	112177170	C	T	APC	c.5879C>T	NM_000038.5	NP_000029.2:p.(Pro1960Leu)	NC_000005.9:g.112177170C>T	(Likely) benign	1 lab	3ad9a99b70
19:17001384 F2RL3 G>A	19	17001384	17001384	G	A	F2RL3	c.1110G>A	NM_003950.4	NP_003941.2:p.(Ala370=)	NC_000019.9:g.17001384G>A	(Likely) benign	1 lab	057a9bc2d7
15:72106407 NR2E3 A>G	15	72106407	72106407	A	G	NR2E3	c.1049A>G	NM_014249.2	NP_055064.1:p.(Gln350Arg)	NC_000015.9:g.72106407A>G	VUS	1 lab	3adb709634
7:5567480 ACTB C>T	7	5567480	5567480	C	T	ACTB				NC_000007.13:g.5567480C>T	(Likely) pathogenic	1 lab	3c114ff2fb
10:26312949 MYO3A A>C	10	26312949	26312949	A	C	MYO3A	c.732-2A>C	NM_017433.4	NP_059129.3:p.?	NC_000010.10:g.26312949A>C	(Likely) pathogenic	1 lab	3ae03e132e
9:126139133 CRB2 C>T	9	126139133	126139133	C	T	CRB2	c.3650C>T	NM_173689.7	NP_775960.4:p.(Pro1217Leu)	NC_000009.11:g.126139133C>T	(Likely) benign	1 lab	057c3ced12
4:149002611 NR3C2 G>A	4	149002611	149002611	G	A	NR3C2	c.2839C>T	NM_000901.4	NP_000892.2:p.(Arg947Ter)	NC_000004.11:g.149002611G>A	(Likely) pathogenic	1 lab	3ae23d64e6
10:112581486 RBM20 G>A	10	112581486	112581486	G	A	RBM20	c.3109G>A	NM_001134363.1	NP_001127835.1:p.(Val1037Ile)	NC_000010.10:g.112581486G>A	(Likely) benign	1 lab	057cdd7972
22:36657627 APOL1 C>T	22	36657627	36657627	C	T	APOL1	c.188-15C>T	NM_003661.4	NP_003652.2:p.?	NC_000022.10:g.36657627C>T	(Likely) benign	1 lab	057d29f133
4:55141011 PDGFRA C>G	4	55141011	55141011	C	G	PDGFRA	c.1657C>G	NM_006206.5	NP_006197.1:p.(Pro553Ala)	NC_000004.11:g.55141011C>G	VUS	1 lab	3af523d822
11:118366974 KMT2A A>G	11	118366974	118366974	A	G	KMT2A	c.5558-2A>G	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118366974A>G	(Likely) pathogenic	1 lab	3af6f2ba8f
7:91670160 AKAP9 ACCAGGAAC>A	7	91670160	91670168	ACCAGGAAC	A	AKAP9	c.4866_4873del	NM_005751.4	NP_005742.4:p.(Asp1622GlufsTer7)	NC_000007.13:g.91670161_91670168del	VUS	1 lab	3af95b885e
3:37061907 MLH1 G>A	3	37061907	37061907	G	A	MLH1	c.991G>A	NM_000249.3	NP_000240.1:p.(Glu331Lys)	NC_000003.11:g.37061907G>A	VUS	1 lab	3afa7bc405
16:2097829 NTHL1 G>C	16	2097829	2097829	G	C	NTHL1	c.-5C>G	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2097829G>C	(Likely) benign	1 lab	3afe84a170
1:158626301 SPTA1 C>A	1	158626301	158626301	C	A	SPTA1	c.2898+53G>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158626301C>A	(Likely) benign	1 lab	057da008dd
X:84526287 ZNF711 A>G	X	84526287	84526287	A	G	ZNF711	c.1877A>G	NM_001330574.2	NP_001317503.1:p.(His626Arg)	NC_000023.10:g.84526287A>G	VUS	1 lab	3b037e6650
7:21742391 DNAH11 C>T	7	21742391	21742391	C	T	DNAH11				NC_000007.13:g.21742391C>T	(Likely) pathogenic	1 lab	3b043967ca
2:167301397 SCN7A T>G	2	167301397	167301397	T	G	SCN7A	c.1501A>C	NM_002976.3	NP_002967.2:p.(Ile501Leu)	NC_000002.11:g.167301397T>G	(Likely) benign	1 lab	3b04b529a7
1:196963286 CFHR5 C>T	1	196963286	196963286	C	T	CFHR5	c.507C>T	NM_030787.4	NP_110414.1:p.(Asp169=)	NC_000001.10:g.196963286C>T	(Likely) benign	1 lab	3b06f2752f
3:10188250 VHL C>A	3	10188250	10188250	C	A	VHL				NC_000003.11:g.10188250C>A	(Likely) pathogenic	1 lab	543aaa8386
1:7798108 CAMTA1 C>T	1	7798108	7798108	C	T	CAMTA1	c.3748C>T	NM_015215.4	NP_056030.1:p.(Pro1250Ser)	NC_000001.10:g.7798108C>T	VUS	1 lab	3b0765f159
8:126079867 WASHC5 T>C	8	126079867	126079867	T	C	WASHC5	c.1245A>G	NM_014846.3	NP_055661.3:p.(Leu415=)	NC_000008.10:g.126079867T>C	(Likely) benign	1 lab	3b077445e8
1:158632919 SPTA1 A>G	1	158632919	158632919	A	G	SPTA1	c.2221-184T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158632919A>G	(Likely) benign	1 lab	057eede401
1:11188494 MTOR C>T	1	11188494	11188494	C	T	MTOR	c.5910+17G>A	NM_004958.3	NP_004949.1:p.?	NC_000001.10:g.11188494C>T	(Likely) benign	1 lab	0580e46d7c
13:39452557 FREM2 A>G	13	39452557	39452557	A	G	FREM2	c.8859+99A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452557A>G	(Likely) benign	1 lab	0581417062
X:19373555 PDHA1 C>A	X	19373555	19373555	C	A	PDHA1	c.692C>A	NM_000284.4	NP_000275.1:p.(Thr231Lys)	NC_000023.10:g.19373555C>A	VUS	1 lab	3b0d32b7aa
2:46313384 PRKCE G>C	2	46313384	46313384	G	C	PRKCE	c.1475G>C	NM_005400.2	NP_005391.1:p.(Gly492Ala)	NC_000002.11:g.46313384G>C	VUS	1 lab	3b0d67ec4a
3:122001099 CASR T>C	3	122001099	122001099	T	C	CASR	c.1732+16T>C	NM_000388.3	NP_000379.2:p.?	NC_000003.11:g.122001099T>C	(Likely) benign	1 lab	3b107e2401
2:179426425 TTN G>A	2	179426425	179426425	G	A	TTN	c.76730C>T	NM_133378.4	NP_596869.4:p.(Ala25577Val)	NC_000002.11:g.179426425G>A	VUS	1 lab	3b113f043a
11:61727429 BEST1 G>C	11	61727429	61727429	G	C	BEST1	c.1014G>C	NM_004183.4	NP_004174.1:p.(Trp338Cys)	NC_000011.9:g.61727429G>C	VUS	1 lab	3b11c27bc0
3:38739913 SCN10A G>A	3	38739913	38739913	G	A	SCN10A				NC_000003.11:g.38739913G>A	VUS	1 lab	3b1617b28f
6:44116359 TMEM63B T>C	6	44116359	44116359	T	C	TMEM63B	c.1231T>C	NM_018426.3	NP_060896.1:p.(Tyr411His)	NC_000006.11:g.44116359T>C	(Likely) pathogenic	1 lab	3b168c9685
2:227872192 COL4A4 C>T	2	227872192	227872192	C	T	COL4A4	c.4922G>A	NM_000092.5	NP_000083.3:p.(Cys1641Tyr)	NC_000002.11:g.227872192C>T	VUS	1 lab	3b181b0349
22:25601203 CRYBB3 A>G	22	25601203	25601203	A	G	CRYBB3	c.344A>G	NM_004076.4	NP_004067.1:p.(Lys115Arg)	NC_000022.10:g.25601203A>G	VUS	1 lab	3b192c12ee
22:29130559 CHEK2 G>A	22	29130559	29130559	G	A	CHEK2	c.151C>T	NM_007194.3	NP_009125.1:p.(Gln51Ter)	NC_000022.10:g.29130559G>A	(Likely) pathogenic	1 lab	3b1fb5538b
17:76471884 DNAH17 G>A	17	76471884	76471884	G	A	DNAH17	c.8186C>T	NM_173628.4	NP_775899.3:p.(Pro2729Leu)	NC_000017.10:g.76471884G>A	(Likely) pathogenic	1 lab	3b205748d7
12:98927506 TMPO T>G	12	98927506	98927506	T	G	TMPO	c.1471T>G	NM_003276.2	NP_003267.1:p.(Ser491Ala)	NC_000012.11:g.98927506T>G	VUS	1 lab	3b260cbbd8
2:48027182 MSH6 G>A	2	48027182	48027182	G	A	MSH6	c.2060G>A	NM_000179.2	NP_000170.1:p.(Cys687Tyr)	NC_000002.11:g.48027182G>A	(Likely) benign	1 lab	3b2676e270
20:62324289 RTEL1 C>T	20	62324289	62324289	C	T	RTEL1	c.2856C>T	NM_032957.4	NP_116575.3:p.(Phe952=)	NC_000020.10:g.62324289C>T	(Likely) benign	1 lab	3b2680e594
9:101911507 TGFBR1 A>T	9	101911507	101911507	A	T	TGFBR1	c.1432A>T	NM_004612.4	NP_004603.1:p.(Asn478Tyr)	NC_000009.11:g.101911507A>T	VUS	1 lab	3b287ea27c
1:215956178 USH2A T>G	1	215956178	215956178	T	G	USH2A	c.10487A>C	NM_206933.4	NP_996816.3:p.(Glu3496Ala)	NC_000001.10:g.215956178T>G	VUS	1 lab	3b291cb093
2:167263146 SCN7A C>A	2	167263146	167263146	C	A	SCN7A	c.3993G>T	NM_002976.3	NP_002967.2:p.(Leu1331=)	NC_000002.11:g.167263146C>A	(Likely) benign	1 lab	3b295e879d
2:179438220 TTN A>G	2	179438220	179438220	A	G	TTN	c.72639T>C	NM_001267550.2	NP_001254479.2:p.(Pro24213=)	NC_000002.11:g.179438220A>G	(Likely) benign	1 lab	3b2978d6ca
5:149449479 CSF1R GT>G	5	149449479	149449481	GT	G	CSF1R	c.1466del	NM_005211.3	NP_005202.2:p.(Asn489ThrfsTer123)	NC_000005.9:g.149449481del	VUS	1 lab	3b2cd03be6
3:93593208 PROS1 C>T	3	93593208	93593208	C	T	PROS1	c.1912G>A	NM_000313.4	NP_000304.2:p.(Gly638Ser)	NC_000003.11:g.93593208C>T	(Likely) pathogenic	1 lab	3b3102d2fa
11:119148891 CBL T>A	11	119148891	119148891	T	A	CBL	c.1111T>A	NM_005188.3	NP_005179.2:p.(Tyr371Asn)	NC_000011.9:g.119148891T>A	(Likely) pathogenic	1 lab	3b31d15d72
16:31195692 FUS TGGTGGAGGTGGA>T	16	31195692	31195720	TGGTGGAGGTGGA	T	FUS	c.515_523+3del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31195709_31195720del	VUS	1 lab	058241e278
20:49509062 ADNP CGTTTT>C	20	49509062	49509067	CGTTTT	C	ADNP	c.2184_2188del	NM_001282531.3	NP_001269460.1:p.(Arg730ValfsTer3)	NC_000020.10:g.49509063_49509067del	(Likely) pathogenic	1 lab	3b3bf6de12
11:76919765 MYO7A C>G	11	76919765	76919765	C	G	MYO7A	c.5968C>G	NM_000260.4	NP_000251.3:p.(Gln1990Glu)	NC_000011.9:g.76919765C>G	VUS	1 lab	3b3cb4acd5
16:11001599 CIITA G>A	16	11001599	11001599	G	A	CIITA	c.2253G>A	NM_001286402.1	NP_001273331.1:p.(Trp751Ter)	NC_000016.9:g.11001599G>A	(Likely) pathogenic	1 lab	3b3d1effa6
1:228468078 OBSCN G>A	1	228468078	228468078	G	A	OBSCN	c.9149G>A	NM_001271223.2	NP_001258152.2:p.(Arg3050Gln)	NC_000001.10:g.228468078G>A	(Likely) benign	1 lab	3b427ca3ae
15:67073750 SMAD6 C>A	15	67073750	67073750	C	A	SMAD6	c.1368C>A	NM_005585.4	NP_005576.3:p.(Asp456Glu)	NC_000015.9:g.67073750C>A	VUS	1 lab	3b44497b07
5:180057055 FLT4 C>T	5	180057055	180057055	C	T	FLT4	c.564G>A	NM_182925.4	NP_891555.2:p.(Arg188=)	NC_000005.9:g.180057055C>T	(Likely) benign	1 lab	3b493a1a9b
1:183536100 NCF2 G>C	1	183536100	183536100	G	C	NCF2	c.879C>G	NM_000433.4	NP_000424.2:p.(Tyr293Ter)	NC_000001.10:g.183536100G>C	(Likely) pathogenic	1 lab	3b4b6f2c13
5:112155043 APC T>G	5	112155043	112155043	T	G	APC	c.1312+2T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155043T>G	(Likely) pathogenic	1 lab	3b4e185d13
1:2160253 SKI G>A	1	2160253	2160253	G	A	SKI	c.48G>A	NM_003036.3	NP_003027.1:p.(Gly16=)	NC_000001.10:g.2160253G>A	(Likely) benign	1 lab	3b50b012ef
X:70510534 NONO C>G	X	70510534	70510534	C	G	NONO	c.47C>G	NM_001145408.1	NP_001138880.1:p.(Pro16Arg)	NC_000023.10:g.70510534C>G	VUS	1 lab	3b55ab7066
2:86305405 POLR1A T>C	2	86305405	86305405	T	C	POLR1A	c.1089A>G	NM_015425.6	NP_056240.2:p.(Glu363=)	NC_000002.11:g.86305405T>C	(Likely) benign	1 lab	05832c98d1
7:107303785 SLC26A4 C>T	7	107303785	107303785	C	T	SLC26A4				NC_000007.13:g.107303785C>T	VUS	1 lab	3b5d9db6a6
3:48612639 COL7A1 C>T	3	48612639	48612639	C	T	COL7A1	c.6216+1G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48612639C>T	(Likely) pathogenic	1 lab	3b5f9c0fac
16:3705872 DNASE1 C>CCCTGGTCCAGGAGGTCAGAGACAGCCACCTGACTGCCGTGGGGAAGCTGCTGGACA	16	3705872	3705928	C	CCCTGGTCCAGGAGGTCAGAGACAGCCACCTGACTGCCGTGGGGAAGCTGCTGGACA	DNASE1	c.171_226dup	NM_001351825.1	NP_001338754.1:p.(Asn76ThrfsTer11)	NC_000016.9:g.3705873_3705928dup	(Likely) pathogenic	1 lab	3b6179ba76
3:64640303 ADAMTS9 G>T	3	64640303	64640303	G	T	ADAMTS9	c.1170-15C>A	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64640303G>T	(Likely) benign	1 lab	0583ea43a0
6:32007849 TNXB G>C	6	32007849	32007849	G	C	TNXB				NC_000006.11:g.32007849G>C	(Likely) benign	1 lab	3b69f31bb3
2:167262804 SCN7A G>A	2	167262804	167262804	G	A	SCN7A	c.4335C>T	NM_002976.4	NP_002967.2:p.(Asn1445=)	NC_000002.11:g.167262804G>A	(Likely) benign	1 lab	3b6ad00556
12:6172230 VWF A>G	12	6172230	6172230	A	G	VWF	c.1433-10T>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6172230A>G	(Likely) benign	1 lab	3b6d020102
14:21868646 CHD8 T>G	14	21868646	21868646	T	G	CHD8	c.4496A>C	NM_001170629.2	NP_001164100.1:p.(Asn1499Thr)	NC_000014.8:g.21868646T>G	(Likely) benign	1 lab	3b6df1cfde
17:10555880 MYH3 T>G	17	10555880	10555880	T	G	MYH3	c.205A>C	NM_002470.4	NP_002461.2:p.(Thr69Pro)	NC_000017.10:g.10555880T>G	(Likely) benign	1 lab	3b6fc3cd9c
2:179413099 TTN G>A	2	179413099	179413099	G	A	TTN	c.93254C>T	NM_001267550.2	NP_001254479.2:p.(Pro31085Leu)	NC_000002.11:g.179413099G>A	VUS	1 lab	3b70c666e5
12:48258890 VDR G>A	12	48258890	48258890	G	A	VDR	c.217C>T	NM_001017535.1	NP_001017535.1:p.(Arg73Ter)	NC_000012.11:g.48258890G>A	(Likely) pathogenic	1 lab	3b73a9246a
1:76346921 MSH4 G>GAT	1	76346921	76346922	G	GAT	MSH4	c.1782-10_1782-9insAT	NM_002440.4	NP_002431.2:p.?	NC_000001.10:g.76346921_76346922insAT	(Likely) benign	1 lab	05850254cb
2:179611899 TTN G>A	2	179611899	179611899	G	A	TTN	c.11312-5251C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611899G>A	(Likely) benign	1 lab	3b75b2a919
3:41266486 CTNNB1 C>T	3	41266486	41266486	C	T	CTNNB1	c.283C>T	NM_001098209.1	NP_001091679.1:p.(Arg95Ter)	NC_000003.11:g.41266486C>T	(Likely) pathogenic	1 lab	3b75cce42b
12:39726409 KIF21A A>T	12	39726409	39726409	A	T	KIF21A	c.2840T>A	NM_001173464.1	NP_001166935.1:p.(Met947Lys)	NC_000012.11:g.39726409A>T	(Likely) pathogenic	1 lab	3b76a626bf
19:613400 HCN2 G>A	19	613400	613400	G	A	HCN2	c.1737G>A	NM_001194.3	NP_001185.3:p.(Lys579=)	NC_000019.9:g.613400G>A	(Likely) benign	1 lab	3b7779bd2e
X:154194241 F8 T>C	X	154194241	154194241	T	C	F8	c.1443+4A>G	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154194241T>C	(Likely) pathogenic	1 lab	3b78a97072
20:23029050 THBD C>T	20	23029050	23029050	C	T	THBD	c.1092G>A	NM_000361.2	NP_000352.1:p.(Glu364=)	NC_000020.10:g.23029050C>T	(Likely) benign	1 lab	3b79bc8f0c
12:32996161 PKP2 C>T	12	32996161	32996161	C	T	PKP2	c.1465G>A	NM_004572.3	NP_004563.2:p.(Gly489Arg)	NC_000012.11:g.32996161C>T	(Likely) benign	1 lab	3b7f05345e
X:152991564 ABCD1 C>A	X	152991564	152991564	C	A	ABCD1	c.843C>A	NM_000033.4	NP_000024.2:p.(Tyr281Ter)	NC_000023.10:g.152991564C>A	(Likely) pathogenic	1 lab	3b85a4721a
9:98239105 PTCH1 T>A	9	98239105	98239105	T	A	PTCH1	c.1538A>T	NM_000264.5	NP_000255.2:p.(Asp513Val)	NC_000009.11:g.98239105T>A	(Likely) pathogenic	1 lab	3b8e754c3d
14:23901901 MYH7 G>C	14	23901901	23901901	G	C	MYH7	c.449C>G	NM_000257.2	NP_000248.2:p.(Ala150Gly)	NC_000014.8:g.23901901G>C	VUS	1 lab	3b8e7e803c
16:3304667 MEFV G>T	16	3304667	3304667	G	T	MEFV	c.401C>A	NM_000243.2	NP_000234.1:p.(Pro134Gln)	NC_000016.9:g.3304667G>T	(Likely) benign	1 lab	0587c8441f
18:28673622 DSC2 AAATC>A	18	28673622	28673628	AAATC	A	DSC2	c.70-20_70-17del	NM_024422.3	NP_077740.1:p.?	NC_000018.9:g.28673625_28673628del	(Likely) benign	1 lab	3b93056967
3:136016849 PCCB TTTC>T	3	136016849	136016855	TTTC	T	PCCB	c.823_825del	NM_000532.5	NP_000523.2:p.(Phe275del)	NC_000003.11:g.136016853_136016855del	(Likely) pathogenic	1 lab	3b93551afa
7:98522768 TRRAP G>A	7	98522768	98522768	G	A	TRRAP	c.2857G>A	NM_003496.4	NP_003487.1:p.(Ala953Thr)	NC_000007.13:g.98522768G>A	VUS	1 lab	3b94b94482
1:111663156 DRAM2 C>T	1	111663156	111663156	C	T	DRAM2	c.499G>A	NM_178454.4	NP_848549.3:p.(Gly167Arg)	NC_000001.10:g.111663156C>T	VUS	1 lab	3b976832aa
4:155507451 FGA C>T	4	155507451	155507451	C	T	FGA	c.1130G>A	NM_000508.4	NP_000499.1:p.(Ser377Asn)	NC_000004.11:g.155507451C>T	(Likely) benign	1 lab	3b9afee388
3:128200723 GATA2 C>T	3	128200723	128200723	C	T	GATA2	c.1082G>A	NM_032638.5	NP_116027.2:p.(Arg361His)	NC_000003.11:g.128200723C>T	(Likely) pathogenic	1 lab	3b9fd919c3
2:47702163 MSH2 G>A	2	47702163	47702163	G	A	MSH2	c.1760-1G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47702163G>A	(Likely) pathogenic	1 lab	3ba32ab09c
13:32912132 BRCA2 G>A	13	32912132	32912132	G	A	BRCA2	c.3640G>A	NM_000059.3	NP_000050.2:p.(Val1214Met)	NC_000013.10:g.32912132G>A	(Likely) benign	1 lab	3ba47765fb
22:36784033 MYH9 C>T	22	36784033	36784033	C	T	MYH9	c.-201G>A	NM_002473.4	NP_002464.1:p.?	NC_000022.10:g.36784033C>T	(Likely) benign	1 lab	3ba4d2096a
16:67686909 CARMIL2 G>C	16	67686909	67686909	G	C	CARMIL2	c.2885-13G>C	NM_001013838.3	NP_001013860.1:p.?	NC_000016.9:g.67686909G>C	(Likely) benign	1 lab	058c4682bf
17:40861904 MISSING C>A	17	40861904	40861904	C	A	MISSING				NC_000017.10:g.40861904C>A	(Likely) benign	1 lab	3bb7f566f1
2:230693950 TRIP12 C>T	2	230693950	230693950	C	T	TRIP12	c.1409G>A	NM_001284214.1	NP_001271143.1:p.(Arg470Gln)	NC_000002.11:g.230693950C>T	(Likely) benign	1 lab	3bb956f0b8
13:32937543 BRCA2 C>G	13	32937543	32937543	C	G	BRCA2	c.8204C>G	NM_000059.3	NP_000050.2:p.(Pro2735Arg)	NC_000013.10:g.32937543C>G	VUS	1 lab	3bbb31b0aa
8:55537893 RP1 C>A	8	55537893	55537893	C	A	RP1	c.1451C>A	NM_006269.1	NP_006260.1:p.(Ser484Ter)	NC_000008.10:g.55537893C>A	(Likely) pathogenic	1 lab	3bbe346814
5:88057095 MEF2C C>T	5	88057095	88057095	C	T	MEF2C	c.309G>A	NM_002397.5	NP_002388.2:p.(Ala103=)	NC_000005.9:g.88057095C>T	(Likely) benign	1 lab	058e471d9d
4:120107126 MYOZ2 C>T	4	120107126	120107126	C	T	MYOZ2	c.566C>T	NM_016599.4	NP_057683.1:p.(Ala189Val)	NC_000004.11:g.120107126C>T	VUS	1 lab	3bc49e368d
2:241659198 KIF1A G>A	2	241659198	241659198	G	A	KIF1A	c.5014C>T	NM_001244008.1	NP_001230937.1:p.(Arg1672Ter)	NC_000002.11:g.241659198G>A	(Likely) pathogenic	1 lab	3bc5df872b
10:88651899 BMPR1A C>G	10	88651899	88651899	C	G	BMPR1A	c.246C>G	NM_004329.2	NP_004320.2:p.(Cys82Trp)	NC_000010.10:g.88651899C>G	VUS	1 lab	3bc9a9fac3
2:179659733 TTN G>A	2	179659733	179659733	G	A	TTN	c.1161C>T	NM_001267550.1	NP_001254479.1:p.(Thr387=)	NC_000002.11:g.179659733G>A	(Likely) benign	1 lab	3bca42525d
10:96058433 PLCE1 G>A	10	96058433	96058433	G	A	PLCE1	c.5458+7G>A	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96058433G>A	(Likely) benign	1 lab	3bcbbb1caf
1:43896662 SZT2 G>A	1	43896662	43896662	G	A	SZT2	c.4646G>A	NM_015284.3	NP_056099.3:p.(Arg1549Gln)	NC_000001.10:g.43896662G>A	VUS	1 lab	3bcc964e82
1:3784543 DFFB G>A	1	3784543	3784543	G	A	DFFB	c.508G>A	NM_001282669.2	NP_001269598.1:p.(Glu170Lys)	NC_000001.10:g.3784543G>A	VUS	1 lab	3bceb11909
1:27094443 ARID1A C>T	1	27094443	27094443	C	T	ARID1A	c.3151C>T	NM_006015.4	NP_006006.3:p.(Leu1051Phe)	NC_000001.10:g.27094443C>T	VUS	1 lab	3bcefa063d
1:43394538 SLC2A1 T>C	1	43394538	43394538	T	C	SLC2A1	c.1074+65A>G	NM_006516.3	NP_006507.2:p.?	NC_000001.10:g.43394538T>C	(Likely) benign	1 lab	0597322676
19:1223127 STK11 A>C	19	1223127	1223127	A	C	STK11				NC_000019.9:g.1223127A>C	(Likely) benign	1 lab	3bd17db6d8
17:27185500 ERAL1 A>T	17	27185500	27185500	A	T	ERAL1	c.707A>T	NM_005702.3	NP_005693.1:p.(Asn236Ile)	NC_000017.10:g.27185500A>T	(Likely) pathogenic	1 lab	3be8088322
X:70330826 IL2RG C>T	X	70330826	70330826	C	T	IL2RG	c.190G>A	NM_000206.3	NP_000197.1:p.(Val64Met)	NC_000023.10:g.70330826C>T	(Likely) pathogenic	1 lab	3bd57120e2
2:167262274 SCN7A C>T	2	167262274	167262274	C	T	SCN7A	c.4865G>A	NM_002976.3	NP_002967.2:p.(Arg1622Gln)	NC_000002.11:g.167262274C>T	(Likely) benign	1 lab	3bd70b3503
13:32914598 BRCA2 C>T	13	32914598	32914598	C	T	BRCA2	c.6106C>T	NM_000059.4	NP_000050.3:p.(Pro2036Ser)	NC_000013.10:g.32914598C>T	VUS	1 lab	3bdad88281
12:2656631 CACNA1C G>T	12	2656631	2656631	G	T	CACNA1C	c.1391-2478G>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2656631G>T	(Likely) benign	1 lab	3bdbd1735f
14:24730985 TGM1 G>A	14	24730985	24730985	G	A	TGM1	c.424C>T	NM_000359.2	NP_000350.1:p.(Arg142Cys)	NC_000014.8:g.24730985G>A	(Likely) pathogenic	1 lab	3bdc08be8c
6:65300591 EYS CAA>C	6	65300591	65300593	CAA	C	EYS	c.5167_5168del	NM_001142800.1	NP_001136272.1:p.(Leu1723GlyfsTer6)	NC_000006.11:g.65300592_65300593del	(Likely) pathogenic	1 lab	3bdd24223d
1:247581542 NLRP3 T>C	1	247581542	247581542	T	C	NLRP3	c.-89T>C	NM_001079821.2	NP_001073289.1:p.?	NC_000001.10:g.247581542T>C	(Likely) benign	1 lab	3bdd2ef7f0
11:47360931 MYBPC3 C>T	11	47360931	47360931	C	T	MYBPC3	c.2092G>A	NM_000256.3	NP_000247.2:p.(Ala698Thr)	NC_000011.9:g.47360931C>T	(Likely) benign	1 lab	3be0471dea
17:62018164 SCN4A A>C	17	62018164	62018164	A	C	SCN4A	c.5478T>G	NM_000334.4	NP_000325.4:p.(Thr1826=)	NC_000017.10:g.62018164A>C	(Likely) benign	1 lab	3be5afc5d2
16:8906880 PMM2 G>A	16	8906880	8906880	G	A	PMM2	c.556G>A	NM_000303.2	NP_000294.1:p.(Gly186Arg)	NC_000016.9:g.8906880G>A	(Likely) pathogenic	1 lab	3be5b16d4f
1:215847475 USH2A G>A	1	215847475	215847475	G	A	USH2A	c.13778C>T	NM_206933.2	NP_996816.2:p.(Ser4593Leu)	NC_000001.10:g.215847475G>A	(Likely) benign	1 lab	3be6cfa09e
X:67502953 OPHN1 G>T	X	67502953	67502953	G	T	OPHN1	c.257C>A	NM_002547.3	NP_002538.1:p.(Ser86Tyr)	NC_000023.10:g.67502953G>T	VUS	1 lab	3be9422bfb
5:225593 SDHA C>T	5	225593	225593	C	T	SDHA	c.372C>T	NM_004168.4	NP_004159.2:p.(Tyr124=)	NC_000005.9:g.225593C>T	(Likely) benign	1 lab	3beb7755c4
X:38147170 RPGR C>T	X	38147170	38147170	C	T	RPGR	c.1697G>A	NM_001034853.1	NP_001030025.1:p.(Gly566Glu)	NC_000023.10:g.38147170C>T	(Likely) benign	1 lab	3bedeb61fa
1:41285852 KCNQ4 G>A	1	41285852	41285852	G	A	KCNQ4	c.961G>A	NM_004700.3	NP_004691.2:p.(Gly321Ser)	NC_000001.10:g.41285852G>A	(Likely) pathogenic	1 lab	3bf1edb1cb
16:56921849 SLC12A3 G>A	16	56921849	56921849	G	A	SLC12A3	c.2191G>A	NM_000339.2	NP_000330.2:p.(Gly731Arg)	NC_000016.9:g.56921849G>A	(Likely) pathogenic	1 lab	3bf34eab59
15:58357854 ALDH1A2 C>T	15	58357854	58357854	C	T	ALDH1A2	c.-6G>A	NM_003888.3	NP_003879.2:p.?	NC_000015.9:g.58357854C>T	(Likely) benign	1 lab	3bf529b468
14:81609958 TSHR G>A	14	81609958	81609958	G	A	TSHR	c.1556G>A	NM_000369.2	NP_000360.2:p.(Arg519His)	NC_000014.8:g.81609958G>A	VUS	1 lab	3bf5fdb767
13:35736019 NBEA C>T	13	35736019	35736019	C	T	NBEA				NC_000013.10:g.35736019C>T	VUS	1 lab	3bf655090b
9:33001549 APTX C>A	9	33001549	33001549	C	A	APTX	n.78G>T	NR_160931.1		NC_000009.11:g.33001549C>A	(Likely) benign	1 lab	05a2c33c64
7:138819400 IFT56 G>C	7	138819400	138819400	G	C	IFT56	c.4-1G>C	NM_024926.3	NP_079202.2:p.?	NC_000007.13:g.138819400G>C	VUS	1 lab	3bfd4760c1
1:8716175 RERE T>A	1	8716175	8716175	T	A	RERE	c.182A>T	NM_012102.3	NP_036234.3:p.(Asn61Ile)	NC_000001.10:g.8716175T>A	VUS	1 lab	3c036615d7
20:62319692 RTEL1 T>A	20	62319692	62319692	T	A	RTEL1				NC_000020.10:g.62319692T>A	VUS	1 lab	3c049982ec
19:54632662 PRPF31 C>T	19	54632662	54632662	C	T	PRPF31	c.1291C>T	NM_015629.3	NP_056444.3:p.(Gln431Ter)	NC_000019.9:g.54632662C>T	(Likely) pathogenic	1 lab	3c06005d32
1:32742328 LCK G>C	1	32742328	32742328	G	C	LCK	c.905G>C	NM_001042771.2	NP_001036236.1:p.(Arg302Pro)	NC_000001.10:g.32742328G>C	VUS	1 lab	3c0661f94e
1:224621653 WDR26 TC>T	1	224621653	224621658	TC	T	WDR26	c.154del	NM_025160.6	NP_079436.4:p.(Asp52ThrfsTer23)	NC_000001.10:g.224621658del	(Likely) pathogenic	1 lab	3c090e0c1e
10:89624252 PTEN T>A	10	89624252	89624252	T	A	PTEN	c.26T>A	NM_000314.6	NP_000305.3:p.(Val9Asp)	NC_000010.10:g.89624252T>A	VUS	1 lab	3c0914f433
14:77705781 TMEM63C C>G	14	77705781	77705781	C	G	TMEM63C	c.752C>G	NM_020431.4	NP_065164.2:p.(Thr251Arg)	NC_000014.8:g.77705781C>G	VUS	1 lab	3c09e3879d
9:123808632 C5 C>T	9	123808632	123808632	C	T	C5	c.95G>A	NM_001735.3	NP_001726.2:p.(Arg32His)	NC_000009.11:g.123808632C>T	VUS	1 lab	3c0c621b16
2:167266811 SCN7A T>C	2	167266811	167266811	T	C	SCN7A	c.3630A>G	NM_002976.4	NP_002967.2:p.(Ile1210Met)	NC_000002.11:g.167266811T>C	(Likely) benign	1 lab	3c1004f1aa
2:167141250 SCN9A C>T	2	167141250	167141250	C	T	SCN9A	c.1687G>A	NM_001365536.1	NP_001352465.1:p.(Asp563Asn)	NC_000002.11:g.167141250C>T	VUS	1 lab	3c103030e7
12:88532944 CEP290 ATTACT>A	12	88532944	88532952	ATTACT	A	CEP290	c.270_274del	NM_025114.4	NP_079390.3:p.(Lys90AsnfsTer6)	NC_000012.11:g.88532948_88532952del	(Likely) pathogenic	1 lab	3c112745f5
1:161298287 SDHC G>T	1	161298287	161298287	G	T	SDHC	c.179G>T	NM_003001.5	NP_002992.1:p.(Ser60Ile)	NC_000001.10:g.161298287G>T	(Likely) pathogenic	1 lab	3c128c14ac
10:55587195 PCDH15 G>A	10	55587195	55587195	G	A	PCDH15	c.4325C>T	NM_033056.4	NP_149045.3:p.(Pro1442Leu)	NC_000010.10:g.55587195G>A	VUS	1 lab	3c13eb350b
19:6710659 C3 G>A	19	6710659	6710659	G	A	C3	c.1677C>T	NM_000064.2	NP_000055.2:p.(Cys559=)	NC_000019.9:g.6710659G>A	(Likely) benign	1 lab	05a87c8e03
9:140710450 EHMT1 G>A	9	140710450	140710450	G	A	EHMT1				NC_000009.11:g.140710450G>A	(Likely) pathogenic	1 lab	3c1901f190
9:138657055 KCNT1 C>T	9	138657055	138657055	C	T	KCNT1	c.1200+14C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138657055C>T	(Likely) benign	1 lab	05accbd43e
3:38622739 SCN5A G>A	3	38622739	38622739	G	A	SCN5A	c.2911C>T	NM_198056.3	NP_932173.1:p.(Arg971Cys)	NC_000003.11:g.38622739G>A	VUS	1 lab	3c1eea7879
1:112323419 KCND3 A>G	1	112323419	112323419	A	G	KCND3	c.1270-6T>C	NM_004980.4	NP_004971.2:p.?	NC_000001.10:g.112323419A>G	(Likely) benign	1 lab	3c2292ee0a
22:30064328 NF2 C>T	22	30064328	30064328	C	T	NF2	c.892C>T	NM_000268.4	NP_000259.1:p.(Gln298Ter)	NC_000022.10:g.30064328C>T	(Likely) pathogenic	1 lab	3c262fa06d
13:32914787 BRCA2 A>G	13	32914787	32914787	A	G	BRCA2	c.6295A>G	NM_000059.3	NP_000050.2:p.(Arg2099Gly)	NC_000013.10:g.32914787A>G	(Likely) benign	1 lab	3c264e2781
7:142457373 PRSS1 C>T	7	142457373	142457373	C	T	PRSS1	c.38C>T	NM_002769.5	NP_002760.1:p.(Ala13Val)	NC_000007.13:g.142457373C>T	VUS	1 lab	3c275a4729
4:159618760 ETFDH C>T	4	159618760	159618760	C	T	ETFDH	c.881C>T	NM_004453.4	NP_004444.2:p.(Thr294Ile)	NC_000004.11:g.159618760C>T	(Likely) pathogenic	1 lab	3c29315cc5
X:153130898 L1CAM C>T	X	153130898	153130898	C	T	L1CAM	c.2605G>A	NM_001278116.1	NP_001265045.1:p.(Asp869Asn)	NC_000023.10:g.153130898C>T	VUS	1 lab	3c2a1a4fff
9:75357364 TMC1 G>A	9	75357364	75357364	G	A	TMC1	c.458G>A	NM_138691.2	NP_619636.2:p.(Trp153Ter)	NC_000009.11:g.75357364G>A	(Likely) pathogenic	1 lab	3c2d141c85
8:143958593 CYP11B1 T>A	8	143958593	143958593	T	A	CYP11B1	c.441A>T	NM_000497.3	NP_000488.3:p.(Glu147Asp)	NC_000008.10:g.143958593T>A	(Likely) benign	1 lab	3c2d75973c
4:114199026 ANK2 T>C	4	114199026	114199026	T	C	ANK2	c.1717T>C	NM_001148.5	NP_001139.3:p.(Tyr573His)	NC_000004.11:g.114199026T>C	VUS	1 lab	3c3110e6b4
11:86662942 FZD4 C>A	11	86662942	86662942	C	A	FZD4	c.856G>T	NM_012193.3	NP_036325.2:p.(Glu286Ter)	NC_000011.9:g.86662942C>A	(Likely) pathogenic	1 lab	3c49343940
X:73961086 NEXMIF G>GA	X	73961086	73961087	G	GA	NEXMIF	c.3305dup	NM_001008537.2	NP_001008537.1:p.(Gly1104ArgfsTer30)	NC_000023.10:g.73961087dup	(Likely) pathogenic	1 lab	3c3274bc32
8:102504974 GRHL2 C>G	8	102504974	102504974	C	G	GRHL2	c.-24C>G	NM_024915.3	NP_079191.2:p.?	NC_000008.10:g.102504974C>G	(Likely) benign	1 lab	3c33d2af77
1:215847713 USH2A T>C	1	215847713	215847713	T	C	USH2A	c.13540A>G	NM_206933.2	NP_996816.2:p.(Ser4514Gly)	NC_000001.10:g.215847713T>C	VUS	1 lab	3c34ea1155
2:47698150 MSH2 TATG>T	2	47698150	47698154	TATG	T	MSH2	c.1710_1712del	NM_000251.2	NP_000242.1:p.(Tyr570Ter)	NC_000002.11:g.47698152_47698154del	(Likely) pathogenic	1 lab	3c3541ba59
4:110681704 CFI G>A	4	110681704	110681704	G	A	CFI	c.747C>T	NM_000204.4	NP_000195.2:p.(Asp249=)	NC_000004.11:g.110681704G>A	(Likely) benign	1 lab	3c35d94217
2:227924872 COL4A4 G>A	2	227924872	227924872	G	A	COL4A4	c.2144C>T	NM_000092.4	NP_000083.3:p.(Ala715Val)	NC_000002.11:g.227924872G>A	(Likely) benign	1 lab	3c373cb036
9:117846580 TNC T>C	9	117846580	117846580	T	C	TNC	c.2039A>G	NM_002160.4	NP_002151.2:p.(Gln680Arg)	NC_000009.11:g.117846580T>C	(Likely) benign	1 lab	3c377e6b94
19:50783540 MYH14 G>A	19	50783540	50783540	G	A	MYH14	c.4190G>A	NM_001145809.1	NP_001139281.1:p.(Arg1397Gln)	NC_000019.9:g.50783540G>A	(Likely) benign	1 lab	3c38f2d58c
X:69385805 IGBP1 T>C	X	69385805	69385805	T	C	IGBP1	c.994T>C	NM_001551.2	NP_001542.1:p.(Tyr332His)	NC_000023.10:g.69385805T>C	VUS	1 lab	3c39748f35
5:149511629 PDGFRB C>G	5	149511629	149511629	C	G	PDGFRB	c.1156G>C	NM_002609.4	NP_002600.1:p.(Val386Leu)	NC_000005.9:g.149511629C>G	VUS	1 lab	3c3dc76225
15:73615029 HCN4 G>A	15	73615029	73615029	G	A	HCN4	c.3405C>T	NM_005477.2	NP_005468.1:p.(Leu1135=)	NC_000015.9:g.73615029G>A	(Likely) benign	1 lab	3c411073de
6:32008192 TNXB C>T	6	32008192	32008192	C	T	TNXB				NC_000006.11:g.32008192C>T	(Likely) pathogenic	1 lab	3c4136e94a
4:155491774 FGB A>C	4	155491774	155491774	A	C	FGB	c.1448A>C	NM_005141.5	NP_005132.2:p.(Lys483Thr)	NC_000004.11:g.155491774A>C	VUS	1 lab	3c458cd31d
16:21739752 OTOA G>A	16	21739752	21739752	G	A	OTOA	c.2207G>A	NM_144672.3	NP_653273.3:p.(Gly736Glu)	NC_000016.9:g.21739752G>A	(Likely) pathogenic	1 lab	3c48395b5f
2:179598041 TTN C>T	2	179598041	179598041	C	T	TTN	c.15979G>A	NM_001267550.2	NP_001254479.2:p.(Asp5327Asn)	NC_000002.11:g.179598041C>T	VUS	1 lab	3c49052e36
19:36341780 NPHS1 G>A	19	36341780	36341780	G	A	NPHS1	c.526+83C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36341780G>A	(Likely) benign	1 lab	05afba4d78
10:88476277 LDB3 G>A	10	88476277	88476277	G	A	LDB3	c.1425G>A	NM_007078.3	NP_009009.1:p.(Val475=)	NC_000010.10:g.88476277G>A	(Likely) benign	1 lab	3c4a00d616
X:49093730 CCDC22 G>A	X	49093730	49093730	G	A	CCDC22	c.228G>A	NM_014008.5	NP_054727.1:p.(Met76Ile)	NC_000023.10:g.49093730G>A	(Likely) pathogenic	1 lab	3c4f725639
7:50595870 DDC C>G	7	50595870	50595870	C	G	DDC	c.679G>C	NM_000790.3	NP_000781.1:p.(Glu227Gln)	NC_000007.13:g.50595870C>G	VUS	1 lab	3c50223864
16:51175769 SALL1 C>A	16	51175769	51175769	C	A	SALL1	c.364G>T	NM_002968.3	NP_002959.2:p.(Glu122Ter)	NC_000016.9:g.51175769C>A	(Likely) pathogenic	1 lab	3c51fc1c13
22:46931126 CELSR1 C>T	22	46931126	46931126	C	T	CELSR1	c.1942G>A	NM_001378328.1	NP_001365257.1:p.(Glu648Lys)	NC_000022.10:g.46931126C>T	VUS	1 lab	3c5360a4ea
2:152497129 NEB G>A	2	152497129	152497129	G	A	NEB	c.8425C>T	NM_001271208.1	NP_001258137.1:p.(Arg2809Ter)	NC_000002.11:g.152497129G>A	(Likely) pathogenic	1 lab	3c539073c5
12:6122796 VWF G>T	12	6122796	6122796	G	T	VWF	c.5471C>A	NM_000552.3	NP_000543.2:p.(Pro1824His)	NC_000012.11:g.6122796G>T	(Likely) pathogenic	1 lab	3c550edd09
1:145517352 PEX11B C>T	1	145517352	145517352	C	T	PEX11B	c.136C>T	NM_003846.3	NP_003837.1:p.(Arg46Ter)	NC_000001.10:g.145517352C>T	(Likely) pathogenic	1 lab	3c5c02beed
13:32945161 BRCA2 A>G	13	32945161	32945161	A	G	BRCA2	c.8556A>G	NM_000059.3	NP_000050.2:p.(Ala2852=)	NC_000013.10:g.32945161A>G	(Likely) benign	1 lab	3c5fb2197b
1:100366413 AGL C>G	1	100366413	100366413	C	G	AGL	c.3584C>G	NM_000028.2	NP_000019.2:p.(Thr1195Arg)	NC_000001.10:g.100366413C>G	VUS	1 lab	3c614fc8b6
12:6184720 VWF G>T	12	6184720	6184720	G	T	VWF	c.658-3C>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6184720G>T	(Likely) pathogenic	1 lab	3c632ab51e
13:37422935 SMAD9 G>A	13	37422935	37422935	G	A	SMAD9	c.1282C>T	NM_001127217.2	NP_001120689.1:p.(Arg428Cys)	NC_000013.10:g.37422935G>A	VUS	1 lab	3c63bdea7d
17:41053102 G6PC1 G>A	17	41053102	41053102	G	A	G6PC1	c.209G>A	NM_000151.3	NP_000142.2:p.(Trp70Ter)	NC_000017.10:g.41053102G>A	(Likely) pathogenic	1 lab	3c648552ef
5:112180071 APC A>G	5	112180071	112180071	A	G	APC	c.*248A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112180071A>G	(Likely) benign	1 lab	3c86a807dc
1:5935110 NPHP4 G>A	1	5935110	5935110	G	A	NPHP4	c.2868C>T	NM_015102.5	NP_055917.1:p.(Ala956=)	NC_000001.10:g.5935110G>A	(Likely) benign	1 lab	05ae8c1484
3:37067368 MLH1 C>T	3	37067368	37067368	C	T	MLH1	c.1279C>T	NM_000249.3	NP_000240.1:p.(Gln427Ter)	NC_000003.11:g.37067368C>T	(Likely) pathogenic	1 lab	3c68cbdbfe
1:6501115 ESPN T>A	1	6501115	6501115	T	A	ESPN	c.980T>A	NM_031475.2	NP_113663.2:p.(Val327Glu)	NC_000001.10:g.6501115T>A	VUS	1 lab	3c6db584a5
19:49459104 BAX A>G	19	49459104	49459104	A	G	BAX	c.233+14A>G	NM_004324.3	NP_004315.1:p.?	NC_000019.9:g.49459104A>G	(Likely) benign	1 lab	3c77ca84bc
2:179484711 TTN G>A	2	179484711	179484711	G	A	TTN	c.46429+4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484711G>A	(Likely) benign	1 lab	3c79736b48
18:48593388 SMAD4 G>A	18	48593388	48593388	G	A	SMAD4	c.1140-1G>A	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48593388G>A	(Likely) pathogenic	1 lab	3c7d7ca480
4:166924670 TLL1 A>C	4	166924670	166924670	A	C	TLL1	c.760A>C	NM_012464.4	NP_036596.3:p.(Arg254=)	NC_000004.11:g.166924670A>C	(Likely) benign	1 lab	3c7dc049de
11:47364777 MYBPC3 C>G	11	47364777	47364777	C	G	MYBPC3	c.1226+34G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364777C>G	(Likely) benign	1 lab	3c7e65c731
X:49646051 MISSING T>C	X	49646051	49646051	T	C	MISSING				NC_000023.10:g.49646051T>C	(Likely) pathogenic	1 lab	3c7f6b50ed
19:4117406 MAP2K2 G>A	19	4117406	4117406	G	A	MAP2K2	c.303+11C>T	NM_030662.3	NP_109587.1:p.?	NC_000019.9:g.4117406G>A	(Likely) benign	1 lab	3c80231f7a
1:237753290 RYR2 G>T	1	237753290	237753290	G	T	RYR2	c.3796G>T	NM_001035.3	NP_001026.2:p.(Glu1266Ter)	NC_000001.10:g.237753290G>T	VUS	1 lab	3c81bff57b
7:99702566 AP4M1 G>T	7	99702566	99702566	G	T	AP4M1	c.673+3G>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99702566G>T	(Likely) pathogenic	1 lab	3c83492013
X:152959363 SLC6A8 C>T	X	152959363	152959363	C	T	SLC6A8	c.1145C>T	NM_005629.3	NP_005620.1:p.(Pro382Leu)	NC_000023.10:g.152959363C>T	(Likely) pathogenic	1 lab	3c84bb9718
4:108871711 CYP2U1 G>T	4	108871711	108871711	G	T	CYP2U1	c.*132G>T	NM_183075.2	NP_898898.1:p.?	NC_000004.11:g.108871711G>T	(Likely) benign	1 lab	3c87d416ab
3:37035080 MLH1 A>C	3	37035080	37035080	A	C	MLH1	c.42A>C	NM_000249.4	NP_000240.1:p.(Thr14=)	NC_000003.11:g.37035080A>C	(Likely) benign	1 lab	3c8812842e
5:141335364 PCDH12 A>AG	5	141335364	141335371	A	AG	PCDH12	c.2052dup	NM_016580.4	NP_057664.1:p.(Gln686ThrfsTer102)	NC_000005.9:g.141335371dup	(Likely) pathogenic	1 lab	3c9109a49f
5:1878754 IRX4 C>T	5	1878754	1878754	C	T	IRX4	c.967G>A	NM_001278633.1	NP_001265562.1:p.(Val323Ile)	NC_000005.9:g.1878754C>T	(Likely) benign	1 lab	3c923e32f9
11:61719307 BEST1 C>T	11	61719307	61719307	C	T	BEST1	c.29C>T	NM_004183.4	NP_004174.1:p.(Ala10Val)	NC_000011.9:g.61719307C>T	(Likely) pathogenic	1 lab	3c9368bd70
18:28651605 DSC2 G>A	18	28651605	28651605	G	A	DSC2	c.2091C>T	NM_024422.4	NP_077740.1:p.(Ile697=)	NC_000018.9:g.28651605G>A	(Likely) benign	1 lab	3c9473d566
2:32353523 SPAST G>A	2	32353523	32353523	G	A	SPAST	c.1220G>A	NM_014946.3	NP_055761.2:p.(Ser407Asn)	NC_000002.11:g.32353523G>A	VUS	1 lab	3c95b8e614
9:34241839 UBAP1 C>T	9	34241839	34241839	C	T	UBAP1	c.1008C>T	NM_001171201.1	NP_001164672.1:p.(Asp336=)	NC_000009.11:g.34241839C>T	(Likely) benign	1 lab	1f2de1a644
11:2186500 TH G>C	11	2186500	2186500	G	C	TH	c.1389C>G	NM_199292.2	NP_954986.2:p.(Phe463Leu)	NC_000011.9:g.2186500G>C	VUS	1 lab	ee3baae3b8
22:51160850 SHANK3 C>T	22	51160850	51160850	C	T	SHANK3	c.4814C>T	NM_001372044.2	NP_001358973.1:p.(Pro1605Leu)	NC_000022.10:g.51160850C>T	VUS	1 lab	3c980cce9e
18:52924557 TCF4 AG>A	18	52924557	52924560	AG	A	TCF4				NC_000018.9:g.52924560del	(Likely) pathogenic	1 lab	3c992512a5
3:33109755 GLB1 T>C	3	33109755	33109755	T	C	GLB1	c.424A>G	NM_000404.2	NP_000395.2:p.(Lys142Glu)	NC_000003.11:g.33109755T>C	VUS	1 lab	3c9bb3d73d
16:67692719 ACD C>T	16	67692719	67692719	C	T	ACD	c.646G>A	NM_001082486.2	NP_001075955.2:p.(Gly216Arg)	NC_000016.9:g.67692719C>T	VUS	1 lab	3c9f91d184
9:34250677 UBAP1 C>T	9	34250677	34250677	C	T	UBAP1	c.1288C>T	NM_016525.4	NP_057609.2:p.(His430Tyr)	NC_000009.11:g.34250677C>T	(Likely) benign	1 lab	3c9fc8de10
3:123452630 MYLK T>C	3	123452630	123452630	T	C	MYLK	c.1213A>G	NM_053025.3	NP_444253.3:p.(Met405Val)	NC_000003.11:g.123452630T>C	(Likely) benign	1 lab	3ca158f85a
1:228402775 OBSCN G>A	1	228402775	228402775	G	A	OBSCN	c.1804G>A	NM_001271223.2	NP_001258152.2:p.(Glu602Lys)	NC_000001.10:g.228402775G>A	VUS	1 lab	3ca184cd49
20:408087 RBCK1 A>G	20	408087	408087	A	G	RBCK1	c.1160A>G	NM_031229.2	NP_112506.2:p.(Asn387Ser)	NC_000020.10:g.408087A>G	(Likely) pathogenic	1 lab	3ca492b476
7:33407375 BBS9 G>A	7	33407375	33407375	G	A	BBS9	c.1694-4G>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33407375G>A	(Likely) benign	1 lab	00f5577acf
17:18042265 MYO15A A>G	17	18042265	18042265	A	G	MYO15A	c.5133+15A>G	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18042265A>G	(Likely) benign	1 lab	3ca4c59414
12:112910827 PTPN11 A>C	12	112910827	112910827	A	C	PTPN11	c.836A>C	NM_002834.5	NP_002825.3:p.(Tyr279Ser)	NC_000012.11:g.112910827A>C	(Likely) pathogenic	1 lab	3cb0a0db53
14:75576537 NEK9 G>A	14	75576537	75576537	G	A	NEK9	c.1033C>T	NM_033116.4	NP_149107.4:p.(Arg345Ter)	NC_000014.8:g.75576537G>A	(Likely) pathogenic	1 lab	3cb55d1fd7
2:227924774 COL4A4 C>T	2	227924774	227924774	C	T	COL4A4	c.2164+78G>A	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227924774C>T	(Likely) benign	1 lab	3cb5f134de
5:137219191 MYOT T>C	5	137219191	137219191	T	C	MYOT	c.935T>C	NM_006790.2	NP_006781.1:p.(Val312Ala)	NC_000005.9:g.137219191T>C	(Likely) benign	1 lab	3cc0e9e131
X:31675964 DMD G>A	X	31675964	31675964	G	A	DMD	c.8027+143C>T	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31675964G>A	(Likely) benign	1 lab	3cc835344c
X:48649712 GATA1 G>A	X	48649712	48649712	G	A	GATA1	c.196G>A	NM_002049.3	NP_002040.1:p.(Ala66Thr)	NC_000023.10:g.48649712G>A	(Likely) benign	1 lab	3cd033d643
12:5021475 KCNA1 G>A	12	5021475	5021475	G	A	KCNA1	c.931G>A	NM_000217.2	NP_000208.2:p.(Gly311Ser)	NC_000012.11:g.5021475G>A	(Likely) pathogenic	1 lab	3cd209dff7
3:38674713 SCN5A G>A	3	38674713	38674713	G	A	SCN5A	c.86C>T	NM_001099404.1	NP_001092874.1:p.(Ala29Val)	NC_000003.11:g.38674713G>A	VUS	1 lab	05baf44c4f
6:24528331 ALDH5A1 A>G	6	24528331	24528331	A	G	ALDH5A1	c.1319A>G	NM_170740.1	NP_733936.1:p.(Asn440Ser)	NC_000006.11:g.24528331A>G	VUS	1 lab	3cd5ad98cb
22:21345972 LZTR1 C>T	22	21345972	21345972	C	T	LZTR1	c.847C>T	NM_006767.3	NP_006758.2:p.(Arg283Trp)	NC_000022.10:g.21345972C>T	VUS	1 lab	3cd774830b
2:47789229 KCNK12 G>A	2	47789229	47789229	G	A	KCNK12	c.391+7851C>T	NM_022055.2	NP_071338.1:p.?	NC_000002.11:g.47789229G>A	(Likely) benign	1 lab	3cd87750e4
20:31996627 SNTA1 C>T	20	31996627	31996627	C	T	SNTA1	c.1305G>A	NM_003098.2	NP_003089.1:p.(Ala435=)	NC_000020.10:g.31996627C>T	(Likely) benign	1 lab	3cdd14287b
1:168282261 TBX19 T>A	1	168282261	168282261	T	A	TBX19	c.*21T>A	NM_005149.2	NP_005140.1:p.?	NC_000001.10:g.168282261T>A	(Likely) benign	1 lab	3ce1f92a93
6:137193332 PEX7 G>T	6	137193332	137193332	G	T	PEX7	c.748-4G>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193332G>T	(Likely) benign	1 lab	058165208b
10:114911536 TCF7L2 A>C	10	114911536	114911536	A	C	TCF7L2	c.985A>C	NM_030756.5	NP_110383.2:p.(Lys329Gln)	NC_000010.10:g.114911536A>C	VUS	1 lab	3ce2fc6470
5:137708526 KDM3B C>A	5	137708526	137708526	C	A	KDM3B	c.356C>A	NM_016604.4	NP_057688.3:p.(Ala119Asp)	NC_000005.9:g.137708526C>A	(Likely) pathogenic	1 lab	3ce7ad0f88
4:1807123 FGFR3 A>G	4	1807123	1807123	A	G	FGFR3	c.1454A>G	NM_000142.5	NP_000133.1:p.(Gln485Arg)	NC_000004.11:g.1807123A>G	VUS	1 lab	3ce85595ea
5:176638047 NSD1 A>C	5	176638047	176638047	A	C	NSD1				NC_000005.9:g.176638047A>C	(Likely) benign	1 lab	ee8eb4a30d
2:166909129 SCN1A A>AT	2	166909129	166909130	A	AT	SCN1A	c.694+232_694+233insA	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166909129_166909130insT	(Likely) benign	1 lab	05bc084958
9:21994138 CDKN2A C>G	9	21994138	21994138	C	G	CDKN2A	c.193G>C	NM_058195.3	NP_478102.2:p.(Gly65Arg)	NC_000009.11:g.21994138C>G	(Likely) pathogenic	1 lab	3cebc0c463
19:54393139 PRKCG G>C	19	54393139	54393139	G	C	PRKCG	c.398-1G>C	NM_002739.4	NP_002730.1:p.?	NC_000019.9:g.54393139G>C	VUS	1 lab	3cee26ac4c
2:228118122 COL4A3 G>A	2	228118122	228118122	G	A	COL4A3	c.687+69G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228118122G>A	(Likely) benign	1 lab	05c3f67828
14:24550699 NRL G>GCCCGCAGC	14	24550699	24550715	G	GCCCGCAGC	NRL	c.452_459dup	NM_006177.4	NP_006168.1:p.(Arg154AlafsTer10)	NC_000014.8:g.24550708_24550715dup	(Likely) pathogenic	1 lab	3cf2f7ce2c
6:76582939 MYO6 C>T	6	76582939	76582939	C	T	MYO6	c.1999C>T	NM_004999.3	NP_004990.3:p.(Arg667Cys)	NC_000006.11:g.76582939C>T	VUS	1 lab	3cf662a142
2:165947269 SCN3A T>C	2	165947269	165947269	T	C	SCN3A	c.5394A>G	NM_006922.3	NP_008853.3:p.(Glu1798=)	NC_000002.11:g.165947269T>C	(Likely) benign	1 lab	3cf85e17d3
19:49693571 TRPM4 C>T	19	49693571	49693571	C	T	TRPM4	c.2126C>T	NM_017636.3	NP_060106.2:p.(Thr709Ile)	NC_000019.9:g.49693571C>T	(Likely) benign	1 lab	3cf9718cb4
2:48030549 MSH6 C>T	2	48030549	48030549	C	T	MSH6	c.3173-10C>T	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48030549C>T	(Likely) benign	1 lab	3cfb555bf2
1:94466659 ABCA4 A>G	1	94466659	94466659	A	G	ABCA4	c.6285T>C	NM_000350.2	NP_000341.2:p.(Asp2095=)	NC_000001.10:g.94466659A>G	(Likely) benign	1 lab	3cfc655f93
2:25463182 DNMT3A G>A	2	25463182	25463182	G	A	DNMT3A	c.2311C>T	NM_022552.5	NP_072046.2:p.(Arg771Ter)	NC_000002.11:g.25463182G>A	(Likely) pathogenic	1 lab	3cfc77f4d0
2:170082947 LRP2 A>G	2	170082947	170082947	A	G	LRP2	c.5379T>C	NM_004525.2	NP_004516.2:p.(Tyr1793=)	NC_000002.11:g.170082947A>G	(Likely) benign	1 lab	3cfffde3e5
2:152347017 NEB C>T	2	152347017	152347017	C	T	NEB	c.25271G>A	NM_001271208.1	NP_001258137.1:p.(Arg8424Gln)	NC_000002.11:g.152347017C>T	VUS	1 lab	3d01072ffb
7:6426845 RAC1 C>A	7	6426845	6426845	C	A	RAC1	c.38C>A	NM_006908.5	NP_008839.2:p.(Ala13Asp)	NC_000007.13:g.6426845C>A	(Likely) pathogenic	1 lab	3d0482480d
X:100515558 DRP2 T>C	X	100515558	100515558	T	C	DRP2	c.2822T>C	NM_001939.2	NP_001930.2:p.(Phe941Ser)	NC_000023.10:g.100515558T>C	VUS	1 lab	3d04de0296
13:20763464 GJB2 G>A	13	20763464	20763464	G	A	GJB2	c.257C>T	NM_004004.5	NP_003995.2:p.(Thr86Met)	NC_000013.10:g.20763464G>A	VUS	1 lab	3d06bd863d
19:38954087 RYR1 C>T	19	38954087	38954087	C	T	RYR1	c.2602C>T	NM_000540.2	NP_000531.2:p.(Arg868Cys)	NC_000019.9:g.38954087C>T	VUS	1 lab	3d085762dd
6:109220943 ARMC2 CG>C	6	109220943	109220944	CG	C	ARMC2	c.796del	NM_032131.6	NP_115507.4:p.(Glu266LysfsTer15)	NC_000006.11:g.109220944del	(Likely) pathogenic	1 lab	3d08da3c6b
15:23811592 MKRN3 C>T	15	23811592	23811592	C	T	MKRN3	c.663C>T	NM_005664.3	NP_005655.1:p.(Pro221=)	NC_000015.9:g.23811592C>T	(Likely) benign	1 lab	3d0d4b9fd8
2:24261997 WDCP G>A	2	24261997	24261997	G	A	WDCP	c.368C>T	NM_025203.2	NP_079479.1:p.(Pro123Leu)	NC_000002.11:g.24261997G>A	VUS	1 lab	3d1053f341
17:78081653 GAA G>C	17	78081653	78081653	G	C	GAA	c.913G>C	NM_000152.3	NP_000143.2:p.(Gly305Arg)	NC_000017.10:g.78081653G>C	VUS	1 lab	5f5ffa25ad
10:104597265 CYP17A1 G>T	10	104597265	104597265	G	T	CYP17A1	c.-147C>A	NM_000102.3	NP_000093.1:p.?	NC_000010.10:g.104597265G>T	(Likely) benign	1 lab	3d10fe117a
7:47872800 PKD1L1 C>T	7	47872800	47872800	C	T	PKD1L1	c.6225G>A	NM_138295.4	NP_612152.1:p.(Ala2075=)	NC_000007.13:g.47872800C>T	(Likely) benign	1 lab	3d1aac2283
1:197396953 CRB1 G>A	1	197396953	197396953	G	A	CRB1				NC_000001.10:g.197396953G>A	VUS	1 lab	3d20e7de1f
3:38616850 SCN5A C>T	3	38616850	38616850	C	T	SCN5A	c.3604G>A	NM_198056.2	NP_932173.1:p.(Val1202Met)	NC_000003.11:g.38616850C>T	VUS	1 lab	3d234ab7af
14:37132613 PAX9 G>A	14	37132613	37132613	G	A	PAX9	c.516G>A	NM_006194.3	NP_006185.1:p.(Lys172=)	NC_000014.8:g.37132613G>A	VUS	1 lab	511946d45e
1:116311063 CASQ2 C>T	1	116311063	116311063	C	T	CASQ2	c.100G>A	NM_001232.4	NP_001223.2:p.(Val34Met)	NC_000001.10:g.116311063C>T	(Likely) benign	1 lab	3d2361b346
12:6128849 VWF C>T	12	6128849	6128849	C	T	VWF	c.3735G>A	NM_000552.3	NP_000543.2:p.(Val1245=)	NC_000012.11:g.6128849C>T	(Likely) benign	1 lab	3d23d5d200
6:157502190 ARID1B C>T	6	157502190	157502190	C	T	ARID1B	c.3223C>T	NM_020732.3	NP_065783.3:p.(Arg1075Ter)	NC_000006.11:g.157502190C>T	(Likely) pathogenic	1 lab	3d27a90eae
12:6128865 VWF G>A	12	6128865	6128865	G	A	VWF	c.3719C>T	NM_000552.5	NP_000543.3:p.(Pro1240Leu)	NC_000012.11:g.6128865G>A	VUS	1 lab	3d3063ae1e
X:41333709 NYX C>T	X	41333709	41333709	C	T	NYX	c.1003C>T	NM_022567.2	NP_072089.1:p.(Arg335Cys)	NC_000023.10:g.41333709C>T	VUS	1 lab	3d313d6ba5
19:18897395 COMP C>A	19	18897395	18897395	C	A	COMP	c.1201G>T	NM_000095.2	NP_000086.2:p.(Asp401Tyr)	NC_000019.9:g.18897395C>A	(Likely) pathogenic	1 lab	3d338bdb9f
1:21890619 ALPL G>A	1	21890619	21890619	G	A	ALPL	c.558G>A	NM_000478.6	NP_000469.3:p.(Trp186Ter)	NC_000001.10:g.21890619G>A	(Likely) pathogenic	1 lab	3d37eb174e
13:32914367 BRCA2 A>G	13	32914367	32914367	A	G	BRCA2	c.5875A>G	NM_000059.3	NP_000050.2:p.(Lys1959Glu)	NC_000013.10:g.32914367A>G	(Likely) benign	1 lab	3d38884d70
7:128477422 FLNC G>A	7	128477422	128477422	G	A	FLNC	c.700-30G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477422G>A	(Likely) benign	1 lab	3d3abb89f3
10:63850645 ARID5B C>T	10	63850645	63850645	C	T	ARID5B	c.1423C>T	NM_032199.2	NP_115575.1:p.(Gln475Ter)	NC_000010.10:g.63850645C>T	VUS	1 lab	3d3b24490e
4:5746916 EVC C>T	4	5746916	5746916	C	T	EVC	c.802-15C>T	NM_153717.2	NP_714928.1:p.?	NC_000004.11:g.5746916C>T	(Likely) benign	1 lab	3d3b7fc3cc
X:18662660 RS1 T>C	X	18662660	18662660	T	C	RS1	c.412A>G	NM_000330.4	NP_000321.1:p.(Thr138Ala)	NC_000023.10:g.18662660T>C	VUS	1 lab	3d3d51f983
17:10599080 SCO1 G>T	17	10599080	10599080	G	T	SCO1	c.342C>A	NM_004589.4	NP_004580.1:p.(His114Gln)	NC_000017.10:g.10599080G>T	VUS	1 lab	3d3ef482c3
17:48271356 COL1A1 C>G	17	48271356	48271356	C	G	COL1A1	c.1715G>C	NM_000088.4	NP_000079.2:p.(Gly572Ala)	NC_000017.10:g.48271356C>G	(Likely) pathogenic	1 lab	3d3f09ca1b
1:3102760 PRDM16 G>A	1	3102760	3102760	G	A	PRDM16	c.109G>A	NM_022114.4	NP_071397.3:p.(Glu37Lys)	NC_000001.10:g.3102760G>A	VUS	1 lab	1323875b4e
5:38425179 EGFLAM C>T	5	38425179	38425179	C	T	EGFLAM	c.1795C>T	NM_001205301.2	NP_001192230.1:p.(Arg599Ter)	NC_000005.9:g.38425179C>T	VUS	1 lab	3d40b35d94
17:41197887 BRCA1 G>A	17	41197887	41197887	G	A	BRCA1	c.5468-68C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197887G>A	(Likely) benign	1 lab	05c7275ed1
13:101755558 NALCN G>A	13	101755558	101755558	G	A	NALCN	c.3022C>T	NM_052867.3	NP_443099.1:p.(Arg1008Ter)	NC_000013.10:g.101755558G>A	(Likely) pathogenic	1 lab	3d438a5bb0
22:30035181 NF2 C>T	22	30035181	30035181	C	T	NF2	c.343C>T	NM_000268.3	NP_000259.1:p.(Gln115Ter)	NC_000022.10:g.30035181C>T	(Likely) pathogenic	1 lab	05c7908ee5
10:70507324 CCAR1 G>A	10	70507324	70507324	G	A	CCAR1	c.826+1G>A	NM_018237.3	NP_060707.2:p.?	NC_000010.10:g.70507324G>A	VUS	1 lab	3d44ec5b3e
3:37050394 MLH1 C>T	3	37050394	37050394	C	T	MLH1	c.543C>T	NM_000249.4	NP_000240.1:p.(Gly181=)	NC_000003.11:g.37050394C>T	(Likely) pathogenic	1 lab	3d4962234e
2:165972030 SCN3A C>T	2	165972030	165972030	C	T	SCN3A	c.3449G>A	NM_006922.3	NP_008853.3:p.(Arg1150Gln)	NC_000002.11:g.165972030C>T	(Likely) benign	1 lab	3d4a1fabbe
5:112175021 APC C>T	5	112175021	112175021	C	T	APC	c.3730C>T	NM_000038.6	NP_000029.2:p.(Gln1244Ter)	NC_000005.9:g.112175021C>T	(Likely) pathogenic	1 lab	3d4bf89a6d
3:38768248 SCN10A C>A	3	38768248	38768248	C	A	SCN10A	c.2936G>T	NM_006514.3	NP_006505.3:p.(Gly979Val)	NC_000003.11:g.38768248C>A	(Likely) benign	1 lab	3d4ebbe0d4
13:32953413 BRCA2 G>T	13	32953413	32953413	G	T	BRCA2	c.8755-41G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953413G>T	(Likely) benign	1 lab	05c945a97d
5:149512490 PDGFRB C>T	5	149512490	149512490	C	T	PDGFRB	c.950G>A	NM_002609.3	NP_002600.1:p.(Arg317Gln)	NC_000005.9:g.149512490C>T	VUS	1 lab	3d5335e2c2
22:16888899 MISSING T>Alt too long to show for this DUP	22	16888899	17262473	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.16888900_17262473dup	(Likely) benign	1 lab	1361a71421
14:32562218 ARHGAP5 C>CA	14	32562218	32562219	C	CA	ARHGAP5	c.2344dup	NM_001030055.1	NP_001025226.1:p.(Met782AsnfsTer10)	NC_000014.8:g.32562219dup	VUS	1 lab	3d54c354b6
19:7174625 INSR G>A	19	7174625	7174625	G	A	INSR	c.1092C>T	NM_000208.4	NP_000199.2:p.(Asn364=)	NC_000019.9:g.7174625G>A	(Likely) benign	1 lab	05cab1d1a5
2:112732889 MERTK T>TAATG	2	112732889	112732893	T	TAATG	MERTK	c.985_988dup	NM_006343.3	NP_006334.2:p.(Gly330GlufsTer8)	NC_000002.11:g.112732890_112732893dup	(Likely) pathogenic	1 lab	3d57a26aa0
4:102020796 PPP3CA T>C	4	102020796	102020796	T	C	PPP3CA	c.468A>G	NM_000944.5	NP_000935.1:p.(Leu156=)	NC_000004.11:g.102020796T>C	(Likely) benign	1 lab	05cacb95e5
2:223161901 PAX3 G>C	2	223161901	223161901	G	C	PAX3	c.117C>G	NM_181457.3	NP_852122.1:p.(Asn39Lys)	NC_000002.11:g.223161901G>C	(Likely) pathogenic	1 lab	3d5e017904
17:62019264 SCN4A G>A	17	62019264	62019264	G	A	SCN4A	c.4378C>T	NM_000334.4	NP_000325.4:p.(Arg1460Trp)	NC_000017.10:g.62019264G>A	VUS	1 lab	3d60718559
16:2548334 TBC1D24 G>A	16	2548334	2548334	G	A	TBC1D24	c.1061G>A	NM_020705.2	NP_065756.1:p.(Arg354His)	NC_000016.9:g.2548334G>A	VUS	1 lab	3d6c7ed2dd
2:166904281 SCN1A G>T	2	166904281	166904281	G	T	SCN1A	c.1029-3C>A	NM_001165963.1	NP_001159435.1:p.?	NC_000002.11:g.166904281G>T	VUS	1 lab	3d6e36556a
6:157522085 ARID1B C>T	6	157522085	157522085	C	T	ARID1B	c.4357C>T	NM_020732.3	NP_065783.3:p.(Gln1453Ter)	NC_000006.11:g.157522085C>T	(Likely) pathogenic	1 lab	3d775a9b9f
16:89347586 ANKRD11 G>T	16	89347586	89347586	G	T	ANKRD11	c.5364C>A	NM_001256182.1	NP_001243111.1:p.(Tyr1788Ter)	NC_000016.9:g.89347586G>T	(Likely) pathogenic	1 lab	3d78661030
11:94532825 AMOTL1 C>T	11	94532825	94532825	C	T	AMOTL1	c.469C>T	NM_130847.3	NP_570899.1:p.(Arg157Cys)	NC_000011.9:g.94532825C>T	(Likely) pathogenic	1 lab	3d7f1f23ba
6:70963124 COL9A1 A>C	6	70963124	70963124	A	C	COL9A1	c.1728T>G	NM_001851.4	NP_001842.3:p.(Pro576=)	NC_000006.11:g.70963124A>C	(Likely) benign	1 lab	3d841fcf6d
4:15562176 CC2D2A G>A	4	15562176	15562176	G	A	CC2D2A	c.2945G>A	NM_001080522.2	NP_001073991.2:p.(Arg982His)	NC_000004.11:g.15562176G>A	VUS	1 lab	3d852d00e3
2:31591470 XDH T>G	2	31591470	31591470	T	G	XDH	c.2037A>C	NM_000379.4	NP_000370.2:p.(Thr679=)	NC_000002.11:g.31591470T>G	(Likely) benign	1 lab	05ccc7e3e9
8:68346582 CPA6 T>C	8	68346582	68346582	T	C	CPA6	c.839-107A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68346582T>C	(Likely) benign	1 lab	05cd76e3e5
13:32911081 BRCA2 T>A	13	32911081	32911081	T	A	BRCA2	c.2589T>A	NM_000059.3	NP_000050.2:p.(Asn863Lys)	NC_000013.10:g.32911081T>A	(Likely) benign	1 lab	3d8a811d1b
13:20717000 GJA3 C>A	13	20717000	20717000	C	A	GJA3	c.428G>T	NM_021954.3	NP_068773.2:p.(Gly143Val)	NC_000013.10:g.20717000C>A	(Likely) pathogenic	1 lab	3d8fcfdfdd
12:52188282 SCN8A A>T	12	52188282	52188282	A	T	SCN8A	c.4652A>T	NM_001330260.2	NP_001317189.1:p.(Glu1551Val)	NC_000012.11:g.52188282A>T	VUS	1 lab	3d9571a8c5
X:585094 SHOX G>A	X	585094	585094	G	A	SHOX	c.-676G>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585094G>A	(Likely) benign	1 lab	3d97a1fc90
6:80202376 LCA5 C>G	6	80202376	80202376	C	G	LCA5	c.859-12G>C	NM_181714.3	NP_859065.2:p.?	NC_000006.11:g.80202376C>G	(Likely) benign	1 lab	3d9cdc25d9
5:112174868 APC C>T	5	112174868	112174868	C	T	APC	c.3577C>T	NM_000038.6	NP_000029.2:p.(Gln1193Ter)	NC_000005.9:g.112174868C>T	(Likely) pathogenic	1 lab	3d9ce9bbb3
1:152280265 FLG C>G	1	152280265	152280265	C	G	FLG	c.7097G>C	NM_002016.1	NP_002007.1:p.(Ser2366Thr)	NC_000001.10:g.152280265C>G	(Likely) benign	1 lab	3dd1909e64
8:124335278 ATAD2 C>CT	8	124335278	124335285	C	CT	ATAD2	c.4030dup	NM_014109.3	NP_054828.2:p.(Ser1344LysfsTer28)	NC_000008.10:g.124335285dup	VUS	1 lab	3d9f599596
3:101010343 IMPG2 A>C	3	101010343	101010343	A	C	IMPG2	c.513T>G	NM_016247.3	NP_057331.2:p.(Tyr171Ter)	NC_000003.11:g.101010343A>C	(Likely) pathogenic	1 lab	3d9fde98b1
1:227171933 COQ8A CG>C	1	227171933	227171934	CG	C	COQ8A	c.1396del	NM_020247.4	NP_064632.2:p.(Glu466ArgfsTer11)	NC_000001.10:g.227171934del	(Likely) pathogenic	1 lab	3da12a8856
19:55656895 TNNT1 A>C	19	55656895	55656895	A	C	TNNT1	c.128+17T>G	NM_003283.6	NP_003274.3:p.?	NC_000019.9:g.55656895A>C	(Likely) benign	1 lab	05d0179343
12:52139744 SCN8A G>A	12	52139744	52139744	G	A	SCN8A	c.2056G>A	NM_001330260.2	NP_001317189.1:p.(Asp686Asn)	NC_000012.11:g.52139744G>A	(Likely) benign	1 lab	3da41e0310
15:42695055 CAPN3 A>G	15	42695055	42695055	A	G	CAPN3	c.1600A>G	NM_000070.3	NP_000061.1:p.(Ser534Gly)	NC_000015.9:g.42695055A>G	(Likely) pathogenic	1 lab	3daaf36720
9:20885240 FOCAD G>A	9	20885240	20885240	G	A	FOCAD	c.2625+11G>A	NM_017794.4	NP_060264.4:p.?	NC_000009.11:g.20885240G>A	(Likely) benign	1 lab	3db27a65cb
4:9836638 SLC2A9 G>A	4	9836638	9836638	G	A	SLC2A9	c.1292-6C>T	NM_020041.3	NP_064425.2:p.?	NC_000004.11:g.9836638G>A	(Likely) benign	1 lab	05d0ebce80
9:139390617 NOTCH1 G>A	9	139390617	139390617	G	A	NOTCH1	c.7574C>T	NM_017617.5	NP_060087.3:p.(Pro2525Leu)	NC_000009.11:g.139390617G>A	VUS	1 lab	3db3822749
2:223161900 PAX3 G>A	2	223161900	223161900	G	A	PAX3	c.118C>T	NM_181457.3	NP_852122.1:p.(Gln40Ter)	NC_000002.11:g.223161900G>A	(Likely) pathogenic	1 lab	3db6ba7ba2
1:26128484 SELENON CT>C	1	26128484	26128499	CT	C	SELENON	c.301+848del	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26128499del	(Likely) benign	1 lab	05d107fa9a
1:152285188 FLG G>A	1	152285188	152285188	G	A	FLG	c.2174C>T	NM_002016.1	NP_002007.1:p.(Thr725Ile)	NC_000001.10:g.152285188G>A	(Likely) benign	1 lab	3dbace10b2
2:215646030 BARD1 C>T	2	215646030	215646030	C	T	BARD1	c.568G>A	NM_000465.4	NP_000456.2:p.(Asp190Asn)	NC_000002.11:g.215646030C>T	(Likely) benign	1 lab	3dbcd81a65
4:56230336 SRD5A3 T>C	4	56230336	56230336	T	C	SRD5A3	c.460T>C	NM_024592.4	NP_078868.1:p.(Ser154Pro)	NC_000004.11:g.56230336T>C	VUS	1 lab	3dbcf6b68e
10:112583226 RBM20 C>T	10	112583226	112583226	C	T	RBM20	c.3317-12C>T	NM_001134363.2	NP_001127835.2:p.?	NC_000010.10:g.112583226C>T	(Likely) benign	1 lab	3dbd0afc1f
17:40477018 STAT3 G>C	17	40477018	40477018	G	C	STAT3	c.1427C>G	NM_139276.2	NP_644805.1:p.(Ser476Cys)	NC_000017.10:g.40477018G>C	VUS	1 lab	3dbd36712f
11:108155212 ATM A>G	11	108155212	108155212	A	G	ATM	c.3993+12A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108155212A>G	(Likely) benign	1 lab	3dbe329522
3:19551891 KCNH8 C>T	3	19551891	19551891	C	T	KCNH8	c.2077C>T	NM_144633.2	NP_653234.2:p.(Gln693Ter)	NC_000003.11:g.19551891C>T	VUS	1 lab	3dbf455d58
2:179473061 TTN A>G	2	179473061	179473061	A	G	TTN	c.52549T>C	NM_001267550.2	NP_001254479.2:p.(Ser17517Pro)	NC_000002.11:g.179473061A>G	(Likely) benign	1 lab	3dc0e25c0b
19:50909778 POLD1 C>G	19	50909778	50909778	C	G	POLD1	c.1494+4C>G	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50909778C>G	(Likely) benign	1 lab	3dc12f447d
10:131639108 EBF3 TGCCGTAGGGA>T	10	131639108	131639119	TGCCGTAGGGA	T	EBF3	c.1551_1560del	NM_001375380.1	NP_001362309.1:p.(Pro518Ter)	NC_000010.10:g.131639110_131639119del	VUS	1 lab	3dc492f12f
19:42753838 ERF G>T	19	42753838	42753838	G	T	ERF	c.426C>A	NM_006494.4	NP_006485.2:p.(Phe142Leu)	NC_000019.9:g.42753838G>T	VUS	1 lab	3dc5ffed9d
2:179517271 TTN T>C	2	179517271	179517271	T	C	TTN	c.39044-3A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179517271T>C	VUS	1 lab	3dc6fc9c83
9:13110636 MPDZ T>A	9	13110636	13110636	T	A	MPDZ	c.5828A>T	NM_001378778.1	NP_001365707.1:p.(Gln1943Leu)	NC_000009.11:g.13110636T>A	VUS	1 lab	3dca9812ac
17:7579313 TP53 G>A	17	7579313	7579313	G	A	TP53	c.374C>T	NM_000546.5	NP_000537.3:p.(Thr125Met)	NC_000017.10:g.7579313G>A	(Likely) pathogenic	1 lab	3dcbe5df10
16:3304544 MEFV G>T	16	3304544	3304544	G	T	MEFV	c.524C>A	NM_000243.2	NP_000234.1:p.(Pro175His)	NC_000016.9:g.3304544G>T	VUS	1 lab	612f125ed5
9:130440746 STXBP1 G>T	9	130440746	130440746	G	T	STXBP1	c.1396G>T	NM_003165.3	NP_003156.1:p.(Glu466Ter)	NC_000009.11:g.130440746G>T	(Likely) pathogenic	1 lab	3dce2d064a
1:109419841 GPSM2 C>T	1	109419841	109419841	C	T	GPSM2	c.-258C>T	NM_013296.4	NP_037428.3:p.?	NC_000001.10:g.109419841C>T	(Likely) benign	1 lab	3dd1b46afb
15:65369400 KBTBD13 G>C	15	65369400	65369400	G	C	KBTBD13	c.247G>C	NM_001101362.2	NP_001094832.1:p.(Glu83Gln)	NC_000015.9:g.65369400G>C	(Likely) benign	1 lab	3dd38e9bd0
14:64470002 SYNE2 A>C	14	64470002	64470002	A	C	SYNE2	c.4351A>C	NM_182914.3	NP_878918.2:p.(Ser1451Arg)	NC_000014.8:g.64470002A>C	(Likely) benign	1 lab	3dd690afb8
2:179454897 TTN G>A	2	179454897	179454897	G	A	TTN	c.61555C>T	NM_001267550.2	NP_001254479.2:p.(Arg20519Ter)	NC_000002.11:g.179454897G>A	(Likely) pathogenic	1 lab	3dd6eeac18
7:35271147 TBX20 G>A	7	35271147	35271147	G	A	TBX20	c.859C>T	NM_001077653.2	NP_001071121.1:p.(Arg287Trp)	NC_000007.13:g.35271147G>A	(Likely) pathogenic	1 lab	3dd7bbc400
14:95577653 DICER1 C>A	14	95577653	95577653	C	A	DICER1	c.2256+1G>T	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95577653C>A	(Likely) pathogenic	1 lab	3dd7fb0058
1:201341175 TNNT2 CA>C	1	201341175	201341176	CA	C	TNNT2	c.53-7del	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341176del	(Likely) benign	1 lab	3dd9c509a3
3:48602898 COL7A1 G>A	3	48602898	48602898	G	A	COL7A1				NC_000003.11:g.48602898G>A	(Likely) benign	1 lab	3dde79b59a
22:32881197 FBXO7 G>A	22	32881197	32881197	G	A	FBXO7	c.787+1G>A	NM_012179.3	NP_036311.3:p.?	NC_000022.10:g.32881197G>A	(Likely) pathogenic	1 lab	3ddfebe4d4
1:216497020 USH2A C>T	1	216497020	216497020	C	T	USH2A	c.1346G>A	NM_206933.4	NP_996816.3:p.(Arg449His)	NC_000001.10:g.216497020C>T	VUS	1 lab	3de0eea4d2
10:100219492 HPSE2 C>G	10	100219492	100219492	C	G	HPSE2	c.1618G>C	NM_021828.4	NP_068600.4:p.(Val540Leu)	NC_000010.10:g.100219492C>G	(Likely) benign	1 lab	05d9a5b78e
X:22196496 PHEX G>C	X	22196496	22196496	G	C	PHEX	c.1586+3G>C	NM_000444.5	NP_000435.3:p.?	NC_000023.10:g.22196496G>C	(Likely) pathogenic	1 lab	3de28b3f76
20:60893611 LAMA5 C>T	20	60893611	60893611	C	T	LAMA5	c.7138G>A	NM_005560.4	NP_005551.3:p.(Gly2380Ser)	NC_000020.10:g.60893611C>T	(Likely) benign	1 lab	05d9bbed00
Y:2655257 SRY G>A	Y	2655257	2655257	G	A	SRY	c.388C>T	NM_003140.2	NP_003131.1:p.(Arg130Ter)	NC_000024.9:g.2655257G>A	(Likely) pathogenic	1 lab	3de58997e4
19:38980700 RYR1 G>A	19	38980700	38980700	G	A	RYR1	c.5815-16G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38980700G>A	VUS	1 lab	3de829bbe1
3:127339703 MCM2 G>A	3	127339703	127339703	G	A	MCM2	c.2428G>A	NM_004526.3	NP_004517.2:p.(Val810Ile)	NC_000003.11:g.127339703G>A	(Likely) benign	1 lab	3de988937e
11:108163456 ATM A>G	11	108163456	108163456	A	G	ATM	c.4547A>G	NM_000051.4	NP_000042.3:p.(His1516Arg)	NC_000011.9:g.108163456A>G	VUS	1 lab	3dfb0b8b85
17:56434679 RNF43 C>T	17	56434679	56434679	C	T	RNF43	c.2308+150G>A	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56434679C>T	(Likely) benign	1 lab	3e0169cd3d
3:38921647 SCN11A T>G	3	38921647	38921647	T	G	SCN11A	c.3220-33A>C	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38921647T>G	(Likely) benign	1 lab	3e03adcbc3
X:9733798 GPR143 G>GAGCTGCGT	X	9733798	9733806	G	GAGCTGCGT	GPR143				NC_000023.10:g.9733799_9733806dup	(Likely) pathogenic	1 lab	3e12edf505
13:23913831 SACS AT>A	13	23913831	23913833	AT	A	SACS	c.4183del	NM_014363.5	NP_055178.3:p.(Ile1395PhefsTer34)	NC_000013.10:g.23913833del	(Likely) pathogenic	1 lab	3e13ce8594
1:237895310 RYR2 T>A	1	237895310	237895310	T	A	RYR2	c.10936-36T>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237895310T>A	(Likely) benign	1 lab	05ddc15a2f
3:37059091 MLH1 G>A	3	37059091	37059091	G	A	MLH1	c.884+1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37059091G>A	(Likely) pathogenic	1 lab	3e17f1e583
17:54921456 DGKE G>T	17	54921456	54921456	G	T	DGKE	c.541G>T	NM_003647.3	NP_003638.1:p.(Glu181Ter)	NC_000017.10:g.54921456G>T	(Likely) pathogenic	1 lab	3e19aed6d1
1:111146476 KCNA2 T>C	1	111146476	111146476	T	C	KCNA2	c.929A>G	NM_004974.3	NP_004965.1:p.(His310Arg)	NC_000001.10:g.111146476T>C	(Likely) pathogenic	1 lab	3e1aa70695
11:67287545 CABP2 C>T	11	67287545	67287545	C	T	CABP2	c.466G>A	NM_016366.2	NP_057450.2:p.(Glu156Lys)	NC_000011.9:g.67287545C>T	(Likely) pathogenic	1 lab	3e1df9cae2
12:49418394 KMT2D C>T	12	49418394	49418394	C	T	KMT2D	c.16019G>A	NM_003482.4	NP_003473.3:p.(Arg5340Gln)	NC_000012.11:g.49418394C>T	(Likely) pathogenic	1 lab	3e1f392ef7
11:118359422 KMT2A T>G	11	118359422	118359422	T	G	KMT2A	c.4426T>G	NM_001197104.1	NP_001184033.1:p.(Cys1476Gly)	NC_000011.9:g.118359422T>G	(Likely) pathogenic	1 lab	3e205f44b2
20:52771261 CYP24A1 G>A	20	52771261	52771261	G	A	CYP24A1	c.*50C>T	NM_000782.4	NP_000773.2:p.?	NC_000020.10:g.52771261G>A	(Likely) benign	1 lab	3e20ba6558
3:123167243 ADCY5 G>C	3	123167243	123167243	G	C	ADCY5	c.150C>G	NM_183357.2	NP_899200.1:p.(Ala50=)	NC_000003.11:g.123167243G>C	(Likely) benign	1 lab	3e20bc34ab
2:149248025 MBD5 G>T	2	149248025	149248025	G	T	MBD5	c.4824G>T	NM_001378120.1	NP_001365049.1:p.(Leu1608Phe)	NC_000002.11:g.149248025G>T	VUS	1 lab	3e22173590
4:71588384 RUFY3 C>T	4	71588384	71588384	C	T	RUFY3	c.94C>T	NM_001037442.3	NP_001032519.1:p.(Arg32Ter)	NC_000004.11:g.71588384C>T	VUS	1 lab	3e23b24918
16:75513540 CHST6 G>A	16	75513540	75513540	G	A	CHST6	c.187C>T	NM_021615.4	NP_067628.1:p.(His63Tyr)	NC_000016.9:g.75513540G>A	VUS	1 lab	3e24b78917
3:133473338 TF G>C	3	133473338	133473338	G	C	TF	c.326-1G>C	NM_001063.3	NP_001054.1:p.?	NC_000003.11:g.133473338G>C	VUS	1 lab	3e28a4dcc0
1:16383016 CLCNKB C>G	1	16383016	16383016	C	G	CLCNKB	c.2016+13C>G	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16383016C>G	(Likely) benign	1 lab	3e2dd5f53a
17:59761503 BRIP1 T>C	17	59761503	59761503	T	C	BRIP1				NC_000017.10:g.59761503T>C	VUS	1 lab	3e2e0176bb
5:39331894 C9 G>A	5	39331894	39331894	G	A	C9	c.499C>T	NM_001737.5	NP_001728.1:p.(Pro167Ser)	NC_000005.9:g.39331894G>A	(Likely) benign	1 lab	3e2e126b12
2:189859062 COL3A1 A>G	2	189859062	189859062	A	G	COL3A1	c.1293+4A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859062A>G	VUS	1 lab	14b1e86fb0
2:179392276 TTN C>T	2	179392276	179392276	C	T	TTN	c.107577G>A	NM_001267550.2	NP_001254479.2:p.(Met35859Ile)	NC_000002.11:g.179392276C>T	(Likely) benign	1 lab	3e3236bcec
12:81043361 MISSING T>C	12	81043361	81043361	T	C	MISSING				NC_000012.11:g.81043361T>C	(Likely) benign	1 lab	3e3b9c95aa
11:17574910 OTOG A>G	11	17574910	17574910	A	G	OTOG	c.422-2A>G	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17574910A>G	(Likely) pathogenic	1 lab	3e4011311e
3:46904827 MYL3 C>G	3	46904827	46904827	C	G	MYL3	c.54G>C	NM_000258.2	NP_000249.1:p.(Lys18Asn)	NC_000003.11:g.46904827C>G	VUS	1 lab	3e488bc5fe
12:6121215 VWF T>A	12	6121215	6121215	T	A	VWF	c.5664+38A>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121215T>A	(Likely) benign	1 lab	3e4a3e8ca4
X:40945313 USP9X G>A	X	40945313	40945313	G	A	USP9X	c.-208G>A	NM_001039590.2	NP_001034679.2:p.?	NC_000023.10:g.40945313G>A	(Likely) benign	1 lab	3e4c6fbe5e
11:121028889 TECTA A>G	11	121028889	121028889	A	G	TECTA				NC_000011.9:g.121028889A>G	VUS	1 lab	3e5026b97f
2:228135504 COL4A3 G>A	2	228135504	228135504	G	A	COL4A3	c.1594G>A	NM_000091.5	NP_000082.2:p.(Gly532Ser)	NC_000002.11:g.228135504G>A	(Likely) pathogenic	1 lab	3e54f596e5
14:29237059 FOXG1 A>C	14	29237059	29237059	A	C	FOXG1	c.574A>C	NM_005249.4	NP_005240.3:p.(Met192Leu)	NC_000014.8:g.29237059A>C	VUS	1 lab	3e55e2ed95
6:129419532 LAMA2 C>T	6	129419532	129419532	C	T	LAMA2	c.611C>T	NM_000426.3	NP_000417.2:p.(Ser204Phe)	NC_000006.11:g.129419532C>T	VUS	1 lab	3e572faa0c
2:32361665 SPAST T>C	2	32361665	32361665	T	C	SPAST	c.1279T>C	NM_014946.3	NP_055761.2:p.(Phe427Leu)	NC_000002.11:g.32361665T>C	VUS	1 lab	3e5c47a359
11:76872031 MYO7A C>T	11	76872031	76872031	C	T	MYO7A	c.1213C>T	NM_000260.3	NP_000251.3:p.(Arg405Trp)	NC_000011.9:g.76872031C>T	VUS	1 lab	3e5dae04b8
11:118348802 KMT2A C>A	11	118348802	118348802	C	A	KMT2A	c.3455C>A	NM_001197104.1	NP_001184033.1:p.(Ser1152Ter)	NC_000011.9:g.118348802C>A	(Likely) pathogenic	1 lab	3e6252da5a
X:79932269 BRWD3 T>A	X	79932269	79932269	T	A	BRWD3				NC_000023.10:g.79932269T>A	VUS	1 lab	3e67b8ec85
5:171303467 FBXW11 C>G	5	171303467	171303467	C	G	FBXW11	c.1043G>C	NM_001378974.1	NP_001365903.1:p.(Arg348Pro)	NC_000005.9:g.171303467C>G	VUS	1 lab	3e6af1abeb
1:3350321 PRDM16 G>A	1	3350321	3350321	G	A	PRDM16	c.3777G>A	NM_022114.3	NP_071397.3:p.(Lys1259=)	NC_000001.10:g.3350321G>A	(Likely) benign	1 lab	3e6dd1a286
X:38156677 RPGR C>T	X	38156677	38156677	C	T	RPGR	c.1274G>A	NM_001034853.1	NP_001030025.1:p.(Arg425Lys)	NC_000023.10:g.38156677C>T	(Likely) benign	1 lab	3e724d08c9
11:118037748 SCN2B C>A	11	118037748	118037748	C	A	SCN2B	c.502G>T	NM_004588.4	NP_004579.1:p.(Gly168Cys)	NC_000011.9:g.118037748C>A	VUS	1 lab	3e72ff647b
15:42681172 CAPN3 G>A	15	42681172	42681172	G	A	CAPN3	c.679G>A	NM_000070.2	NP_000061.1:p.(Ala227Thr)	NC_000015.9:g.42681172G>A	VUS	1 lab	3e76a49fa5
2:179413540 TTN C>CT	2	179413540	179413541	C	CT	TTN	c.92812dup	NM_001267550.2	NP_001254479.2:p.(Arg30938LysfsTer15)	NC_000002.11:g.179413541dup	(Likely) pathogenic	1 lab	3e76bed296
17:59763261 BRIP1 C>T	17	59763261	59763261	C	T	BRIP1	c.2841G>A	NM_032043.2	NP_114432.2:p.(Gln947=)	NC_000017.10:g.59763261C>T	(Likely) benign	1 lab	3e78aac2ce
2:179611833 TTN G>A	2	179611833	179611833	G	A	TTN	c.11312-5185C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611833G>A	(Likely) benign	1 lab	3e79468e59
6:32006320 CYP21A2 C>T	6	32006320	32006320	C	T	CYP21A2	c.121C>T	NM_000500.7	NP_000491.4:p.(Leu41=)	NC_000006.11:g.32006320C>T	(Likely) benign	1 lab	3e7a61def2
2:96949330 SNRNP200 G>A	2	96949330	96949330	G	A	SNRNP200	c.4706C>T	NM_014014.5	NP_054733.2:p.(Thr1569Ile)	NC_000002.11:g.96949330G>A	VUS	1 lab	3e7c77b7e3
12:88454731 CEP290 G>T	12	88454731	88454731	G	T	CEP290	c.6398C>A	NM_025114.3	NP_079390.3:p.(Thr2133Asn)	NC_000012.11:g.88454731G>T	VUS	1 lab	3e7dbb042b
5:74990484 POC5 T>C	5	74990484	74990484	T	C	POC5	c.686A>G	NM_001099271.2	NP_001092741.1:p.(Asp229Gly)	NC_000005.9:g.74990484T>C	(Likely) pathogenic	1 lab	3e7f59e801
16:89256759 CDH15 C>T	16	89256759	89256759	C	T	CDH15	c.1087C>T	NM_004933.3	NP_004924.1:p.(Arg363Cys)	NC_000016.9:g.89256759C>T	(Likely) benign	1 lab	05e73347a7
X:153296065 MECP2 G>A	X	153296065	153296065	G	A	MECP2	c.1214C>T	NM_004992.3	NP_004983.1:p.(Pro405Leu)	NC_000023.10:g.153296065G>A	(Likely) benign	1 lab	3e85c86c9d
2:47630331 MSH2 A>C	2	47630331	47630331	A	C	MSH2	c.1A>C	NM_000251.2	NP_000242.1:p.(Met1?)	NC_000002.11:g.47630331A>C	VUS	1 lab	3e86786c78
3:38739085 SCN10A T>C	3	38739085	38739085	T	C	SCN10A	c.5626A>G	NM_006514.2	NP_006505.2:p.(Thr1876Ala)	NC_000003.11:g.38739085T>C	(Likely) benign	1 lab	3e8e18461f
15:23889655 MAGEL2 C>A	15	23889655	23889655	C	A	MAGEL2				NC_000015.9:g.23889655C>A	(Likely) pathogenic	1 lab	3e8f0d9ecc
2:179400843 TTN C>T	2	179400843	179400843	C	T	TTN	c.100631G>A	NM_001267550.2	NP_001254479.2:p.(Arg33544Lys)	NC_000002.11:g.179400843C>T	(Likely) benign	1 lab	3e931ad429
2:96959217 SNRNP200 C>T	2	96959217	96959217	C	T	SNRNP200	c.1873G>A	NM_014014.4	NP_054733.2:p.(Gly625Ser)	NC_000002.11:g.96959217C>T	VUS	1 lab	3e948c39b5
14:23587898 CEBPE G>A	14	23587898	23587898	G	A	CEBPE	c.403C>T	NM_001805.3	NP_001796.2:p.(Arg135Ter)	NC_000014.8:g.23587898G>A	(Likely) pathogenic	1 lab	3e95f3564a
10:7841803 ATP5F1C C>T	10	7841803	7841803	C	T	ATP5F1C	c.497C>T	NM_001001973.2	NP_001001973.1:p.(Ala166Val)	NC_000010.10:g.7841803C>T	(Likely) benign	1 lab	3e9994cbba
6:33138928 COL11A2 G>C	6	33138928	33138928	G	C	COL11A2	c.3329C>G	NM_080680.2	NP_542411.2:p.(Pro1110Arg)	NC_000006.11:g.33138928G>C	VUS	1 lab	3e9b956728
X:149826502 MTM1 T>C	X	149826502	149826502	T	C	MTM1	c.1260+2T>C	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149826502T>C	(Likely) pathogenic	1 lab	3e9f577bed
6:33134289 COL11A2 C>T	6	33134289	33134289	C	T	COL11A2	c.4392+1G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33134289C>T	(Likely) pathogenic	1 lab	3e9f8a4f84
2:227872835 COL4A4 C>T	2	227872835	227872835	C	T	COL4A4	c.4708G>A	NM_000092.5	NP_000083.3:p.(Glu1570Lys)	NC_000002.11:g.227872835C>T	(Likely) pathogenic	1 lab	3ea4115631
2:179417295 TTN A>G	2	179417295	179417295	A	G	TTN	c.90332T>C	NM_001267550.2	NP_001254479.2:p.(Leu30111Pro)	NC_000002.11:g.179417295A>G	(Likely) benign	1 lab	3ea63c71e9
6:107113715 QRSL1 G>A	6	107113715	107113715	G	A	QRSL1	c.1425G>A	NM_018292.4	NP_060762.3:p.(Leu475=)	NC_000006.11:g.107113715G>A	(Likely) benign	1 lab	3ea8ae6883
2:209010558 CRYGB A>G	2	209010558	209010558	A	G	CRYGB	c.192T>C	NM_005210.3	NP_005201.2:p.(Pro64=)	NC_000002.11:g.209010558A>G	(Likely) benign	1 lab	3eabb20587
12:133324816 ANKLE2 C>T	12	133324816	133324816	C	T	ANKLE2	c.949G>A	NM_015114.2	NP_055929.1:p.(Val317Met)	NC_000012.11:g.133324816C>T	VUS	1 lab	3eadb9125e
12:2614070 CACNA1C G>A	12	2614070	2614070	G	A	CACNA1C	c.1176G>A	NM_000719.6	NP_000710.5:p.(Gly392=)	NC_000012.11:g.2614070G>A	(Likely) benign	1 lab	3eb4309c43
11:2592638 KCNQ1 G>A	11	2592638	2592638	G	A	KCNQ1	c.683+5G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2592638G>A	(Likely) pathogenic	1 lab	3eb4964890
8:145003759 PLEC C>T	8	145003759	145003759	C	T	PLEC	c.3335-20G>A	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145003759C>T	(Likely) benign	1 lab	05e9550223
14:23895947 MYH7 T>A	14	23895947	23895947	T	A	MYH7	c.2044+39A>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23895947T>A	(Likely) benign	1 lab	3eb5a84bdd
4:79461695 FRAS1 G>T	4	79461695	79461695	G	T	FRAS1	c.11456G>T	NM_025074.7	NP_079350.5:p.(Gly3819Val)	NC_000004.11:g.79461695G>T	VUS	1 lab	3eb6f6566c
11:47361221 MYBPC3 C>T	11	47361221	47361221	C	T	MYBPC3	c.2048G>A	NM_000256.3	NP_000247.2:p.(Trp683Ter)	NC_000011.9:g.47361221C>T	(Likely) pathogenic	1 lab	3eb79ff1af
6:123786130 TRDN T>A	6	123786130	123786130	T	A	TRDN	c.854-2A>T	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123786130T>A	(Likely) pathogenic	1 lab	3ebb49a144
X:153596081 FLNA C>T	X	153596081	153596081	C	T	FLNA	c.648G>A	NM_001456.3	NP_001447.2:p.(Trp216Ter)	NC_000023.10:g.153596081C>T	(Likely) pathogenic	1 lab	3ebb6bf133
4:77662453 SHROOM3 C>T	4	77662453	77662453	C	T	SHROOM3	c.3127C>T	NM_020859.3	NP_065910.3:p.(Gln1043Ter)	NC_000004.11:g.77662453C>T	VUS	1 lab	3ebda4c2e7
10:89720671 PTEN G>A	10	89720671	89720671	G	A	PTEN	c.822G>A	NM_000314.8	NP_000305.3:p.(Trp274Ter)	NC_000010.10:g.89720671G>A	(Likely) pathogenic	1 lab	3ebe384288
22:32188089 DEPDC5 G>A	22	32188089	32188089	G	A	DEPDC5	c.694+1G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188089G>A	(Likely) pathogenic	1 lab	3ebe3d2f2d
3:10401704 ATP2B2 C>T	3	10401704	10401704	C	T	ATP2B2	c.1763G>A	NM_001001331.4	NP_001001331.1:p.(Arg588His)	NC_000003.11:g.10401704C>T	VUS	1 lab	3ebe54f225
2:73799581 MISSING TG>T	2	73799581	73799582	TG	T	MISSING				NC_000002.11:g.73799582del	(Likely) pathogenic	1 lab	3ec058aa92
20:23029002 THBD G>A	20	23029002	23029002	G	A	THBD	c.1140C>T	NM_000361.2	NP_000352.1:p.(Pro380=)	NC_000020.10:g.23029002G>A	(Likely) benign	1 lab	3ec36b5908
17:41245227 BRCA1 C>G	17	41245227	41245227	C	G	BRCA1	c.2321G>C	NM_007294.4	NP_009225.1:p.(Gly774Ala)	NC_000017.10:g.41245227C>G	(Likely) benign	1 lab	3ec3ecd3df
14:23891543 MYH7 G>A	14	23891543	23891543	G	A	MYH7	c.3100-9C>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23891543G>A	(Likely) benign	1 lab	3ec483b724
9:35809443 NPR2 A>G	9	35809443	35809443	A	G	NPR2	c.*1A>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35809443A>G	(Likely) benign	1 lab	3ec9526d9c
5:36972114 NIPBL C>T	5	36972114	36972114	C	T	NIPBL	c.839C>T	NM_133433.3	NP_597677.2:p.(Ser280Phe)	NC_000005.9:g.36972114C>T	(Likely) benign	1 lab	3ec9e134bf
2:227907828 COL4A4 C>T	2	227907828	227907828	C	T	COL4A4	c.3362G>A	NM_000092.5	NP_000083.3:p.(Gly1121Glu)	NC_000002.11:g.227907828C>T	(Likely) pathogenic	1 lab	3eca01ae2a
15:43021986 CDAN1 G>A	15	43021986	43021986	G	A	CDAN1	c.2352+8C>T	NM_138477.2	NP_612486.2:p.?	NC_000015.9:g.43021986G>A	(Likely) benign	1 lab	3ecc3ac2df
16:56903640 SLC12A3 G>A	16	56903640	56903640	G	A	SLC12A3	c.506-1G>A	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56903640G>A	(Likely) pathogenic	1 lab	3ecd123140
1:215824072 USH2A T>TG	1	215824072	215824074	T	TG	USH2A	c.14204dup	NM_206933.2	NP_996816.2:p.(Glu4736ArgfsTer44)	NC_000001.10:g.215824074dup	(Likely) pathogenic	1 lab	3ed18bc4fd
11:76901819 MYO7A G>A	11	76901819	76901819	G	A	MYO7A	c.3828G>A	NM_000260.3	NP_000251.3:p.(Ser1276=)	NC_000011.9:g.76901819G>A	(Likely) benign	1 lab	3ed1b60fce
5:1057782 SLC12A7 T>C	5	1057782	1057782	T	C	SLC12A7	c.2848-18A>G	NM_006598.2	NP_006589.2:p.?	NC_000005.9:g.1057782T>C	(Likely) benign	1 lab	3ed5fa6e4b
10:92680076 ANKRD1 C>G	10	92680076	92680076	C	G	ANKRD1	c.57G>C	NM_014391.2	NP_055206.2:p.(Glu19Asp)	NC_000010.10:g.92680076C>G	(Likely) benign	1 lab	3ed6300941
12:6132790 VWF T>G	12	6132790	6132790	T	G	VWF	c.3379+7A>C	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6132790T>G	(Likely) benign	1 lab	3f00686316
7:35244091 TBX20 G>A	7	35244091	35244091	G	A	TBX20	c.994C>T	NM_001077653.2	NP_001071121.1:p.(Pro332Ser)	NC_000007.13:g.35244091G>A	(Likely) benign	1 lab	3ed6db5ca0
6:65655686 EYS C>T	6	65655686	65655686	C	T	EYS	c.2381G>A	NM_001142800.2	NP_001136272.1:p.(Arg794Gln)	NC_000006.11:g.65655686C>T	VUS	1 lab	3ed8e465c7
1:197009789 F13B G>A	1	197009789	197009789	G	A	F13B	c.1815C>T	NM_001994.3	NP_001985.2:p.(His605=)	NC_000001.10:g.197009789G>A	(Likely) benign	1 lab	3ed93fe370
11:76890967 MYO7A G>A	11	76890967	76890967	G	A	MYO7A	c.2554G>A	NM_000260.3	NP_000251.3:p.(Ala852Thr)	NC_000011.9:g.76890967G>A	VUS	1 lab	3ee174cfbb
12:88534751 CEP290 A>C	12	88534751	88534751	A	C	CEP290	c.162T>G	NM_025114.3	NP_079390.3:p.(Ile54Met)	NC_000012.11:g.88534751A>C	VUS	1 lab	3ee7d87f6b
10:18439907 CACNB2 A>G	10	18439907	18439907	A	G	CACNB2	c.213+3A>G	NM_201596.2	NP_963890.2:p.?	NC_000010.10:g.18439907A>G	(Likely) benign	1 lab	3eec54fe47
2:167133717 SCN9A C>T	2	167133717	167133717	C	T	SCN9A	c.2650G>A	NM_001365536.1	NP_001352465.1:p.(Gly884Ser)	NC_000002.11:g.167133717C>T	VUS	1 lab	3ef2f26a75
10:48390041 RBP3 C>T	10	48390041	48390041	C	T	RBP3	c.837G>A	NM_002900.2	NP_002891.1:p.(Thr279=)	NC_000010.10:g.48390041C>T	(Likely) benign	1 lab	3efcdff121
13:60240954 DIAPH3 CT>C	13	60240954	60240956	CT	C	DIAPH3	c.3345del	NM_001042517.1	NP_001035982.1:p.(Ser1117HisfsTer24)	NC_000013.10:g.60240956del	(Likely) pathogenic	1 lab	3f01461934
4:57777681 REST C>T	4	57777681	57777681	C	T	REST	c.877C>T	NM_005612.5	NP_005603.3:p.(Gln293Ter)	NC_000004.11:g.57777681C>T	VUS	1 lab	3f04f8243d
13:32911343 BRCA2 C>G	13	32911343	32911343	C	G	BRCA2	c.2851C>G	NM_000059.3	NP_000050.2:p.(Leu951Val)	NC_000013.10:g.32911343C>G	(Likely) benign	1 lab	3f057a594d
19:41021304 SPTBN4 G>A	19	41021304	41021304	G	A	SPTBN4	c.2852G>A	NM_020971.2	NP_066022.2:p.(Gly951Asp)	NC_000019.9:g.41021304G>A	VUS	1 lab	3f088db4f8
10:69565346 DNAJC12 G>A	10	69565346	69565346	G	A	DNAJC12	c.497C>T	NM_021800.2	NP_068572.1:p.(Ser166Phe)	NC_000010.10:g.69565346G>A	VUS	1 lab	3f08f17d1a
X:41048629 USP9X C>T	X	41048629	41048629	C	T	USP9X	c.3878C>T	NM_001039590.2	NP_001034679.2:p.(Thr1293Ile)	NC_000023.10:g.41048629C>T	VUS	1 lab	3f0c60e54c
1:152284996 FLG C>T	1	152284996	152284996	C	T	FLG	c.2366G>A	NM_002016.2	NP_002007.1:p.(Arg789His)	NC_000001.10:g.152284996C>T	(Likely) benign	1 lab	3f0cdd8978
2:167159684 SCN9A G>A	2	167159684	167159684	G	A	SCN9A	c.817C>T	NM_002977.3	NP_002968.1:p.(His273Tyr)	NC_000002.11:g.167159684G>A	(Likely) benign	1 lab	3f0fbbaf1b
10:97397114 ALDH18A1 C>T	10	97397114	97397114	C	T	ALDH18A1	c.383G>A	NM_002860.3	NP_002851.2:p.(Arg128His)	NC_000010.10:g.97397114C>T	VUS	1 lab	3f1214b6bd
17:76120588 TMC6 T>C	17	76120588	76120588	T	C	TMC6	c.891+17A>G	NM_001127198.1	NP_001120670.1:p.?	NC_000017.10:g.76120588T>C	(Likely) benign	1 lab	3f12cb5c8e
7:21906085 DNAH11 C>G	7	21906085	21906085	C	G	DNAH11	c.11497-3C>G	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21906085C>G	(Likely) pathogenic	1 lab	3f13a42196
1:8384556 SLC45A1 T>C	1	8384556	8384556	T	C	SLC45A1	c.269T>C	NM_001080397.2	NP_001073866.2:p.(Ile90Thr)	NC_000001.10:g.8384556T>C	VUS	1 lab	3f15024be4
1:94480248 ABCA4 T>G	1	94480248	94480248	T	G	ABCA4	c.5313-2A>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94480248T>G	(Likely) pathogenic	1 lab	3f169ac2c2
11:17527469 USH1C G>A	11	17527469	17527469	G	A	USH1C	c.2041C>T	NM_153676.4	NP_710142.1:p.(Arg681Ter)	NC_000011.9:g.17527469G>A	(Likely) pathogenic	1 lab	3f22ed3b81
12:56848301 MIP G>A	12	56848301	56848301	G	A	MIP	c.97C>T	NM_012064.3	NP_036196.1:p.(Arg33Cys)	NC_000012.11:g.56848301G>A	(Likely) pathogenic	1 lab	3f2bd1bee4
17:78157769 CARD14 A>C	17	78157769	78157769	A	C	CARD14	c.407A>C	NM_024110.4	NP_077015.2:p.(Gln136Pro)	NC_000017.10:g.78157769A>C	VUS	1 lab	3f2f0ab8b6
7:117199721 CFTR T>C	7	117199721	117199721	T	C	CFTR	c.1584+12T>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117199721T>C	(Likely) benign	1 lab	3f30c78883
8:41615806 ANK1 G>T	8	41615806	41615806	G	T	ANK1	c.28-151C>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41615806G>T	(Likely) benign	1 lab	06483a3bad
2:179605346 TTN A>G	2	179605346	179605346	A	G	TTN	c.12614T>C	NM_001267550.1	NP_001254479.1:p.(Leu4205Ser)	NC_000002.11:g.179605346A>G	(Likely) benign	1 lab	3f36068618
16:1251750 CACNA1H C>T	16	1251750	1251750	C	T	CACNA1H	c.1300C>T	NM_021098.2	NP_066921.2:p.(Arg434Trp)	NC_000016.9:g.1251750C>T	VUS	1 lab	3f373bc6b1
3:38802619 SCN10A CTGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG>C	3	38802619	38802656	CTGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG	C	SCN10A	c.883+27_883+63del	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38802620_38802656del	(Likely) benign	1 lab	3f3aefe0f6
11:47357540 MYBPC3 G>A	11	47357540	47357540	G	A	MYBPC3	c.2625C>T	NM_000256.3	NP_000247.2:p.(His875=)	NC_000011.9:g.47357540G>A	(Likely) benign	1 lab	3f3c14a257
17:79479030 ACTG1 G>A	17	79479030	79479030	G	A	ACTG1	c.262C>T	NM_001199954.1	NP_001186883.1:p.(His88Tyr)	NC_000017.10:g.79479030G>A	VUS	1 lab	3f3c7c209b
2:121748050 GLI2 T>G	2	121748050	121748050	T	G	GLI2	c.4560T>G	NM_005270.4	NP_005261.2:p.(Asp1520Glu)	NC_000002.11:g.121748050T>G	(Likely) pathogenic	1 lab	3f41bf4797
13:113772894 F7 G>A	13	113772894	113772894	G	A	F7	c.973G>A	NM_000131.4	NP_000122.1:p.(Glu325Lys)	NC_000013.10:g.113772894G>A	VUS	1 lab	3f41c18a8f
1:36307322 AGO4 C>T	1	36307322	36307322	C	T	AGO4	c.2146C>T	NM_017629.4	NP_060099.2:p.(Arg716Ter)	NC_000001.10:g.36307322C>T	(Likely) pathogenic	1 lab	3f45a43807
10:103531285 FGF8 G>A	10	103531285	103531285	G	A	FGF8	c.379C>T	NM_033163.3	NP_149353.1:p.(Arg127Ter)	NC_000010.10:g.103531285G>A	(Likely) pathogenic	1 lab	3f46dacd19
12:6132851 VWF G>C	12	6132851	6132851	G	C	VWF	c.3325C>G	NM_000552.3	NP_000543.2:p.(His1109Asp)	NC_000012.11:g.6132851G>C	VUS	1 lab	3f470fb346
X:20227405 RPS6KA3 C>A	X	20227405	20227405	C	A	RPS6KA3	c.243+1G>T	NM_004586.2	NP_004577.1:p.?	NC_000023.10:g.20227405C>A	(Likely) pathogenic	1 lab	3f4a59cb5a
8:38205687 NSD3 C>T	8	38205687	38205687	C	T	NSD3	c.3G>A	NM_023034.1	NP_075447.1:p.(Met1?)	NC_000008.10:g.38205687C>T	VUS	1 lab	3f4ab2d0c3
X:136649527 ZIC3 T>TG	X	136649527	136649530	T	TG	ZIC3	c.680dup	NM_003413.3	NP_003404.1:p.(Val228SerfsTer50)	NC_000023.10:g.136649530dup	(Likely) pathogenic	1 lab	3f4d1f79a7
5:251541 SDHA A>G	5	251541	251541	A	G	SDHA	c.1752A>G	NM_004168.2	NP_004159.2:p.(Ala584=)	NC_000005.9:g.251541A>G	(Likely) benign	1 lab	ef1cf92f3c
11:108155171 ATM C>G	11	108155171	108155171	C	G	ATM	c.3964C>G	NM_000051.4	NP_000042.3:p.(Leu1322Val)	NC_000011.9:g.108155171C>G	VUS	1 lab	3f504ff43b
12:6085445 VWF G>A	12	6085445	6085445	G	A	VWF	c.7288-19C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6085445G>A	(Likely) benign	1 lab	3f51a3c086
7:116417531 MET G>A	7	116417531	116417531	G	A	MET	c.3340+8G>A	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116417531G>A	(Likely) benign	1 lab	3f52fcca34
9:6645337 GLDC G>C	9	6645337	6645337	G	C	GLDC	c.163C>G	NM_000170.2	NP_000161.2:p.(Arg55Gly)	NC_000009.11:g.6645337G>C	VUS	1 lab	3f53a63938
9:120466793 TLR4 A>G	9	120466793	120466793	A	G	TLR4				NC_000009.11:g.120466793A>G	VUS	1 lab	05fb6c07c8
X:43571159 MAOA G>A	X	43571159	43571159	G	A	MAOA				NC_000023.10:g.43571159G>A	(Likely) pathogenic	1 lab	3f54e22b7f
2:165953789 SCN3A G>A	2	165953789	165953789	G	A	SCN3A	c.4212C>T	NM_006922.4	NP_008853.3:p.(Gly1404=)	NC_000002.11:g.165953789G>A	(Likely) benign	1 lab	3f54fee367
3:38622397 SCN5A T>C	3	38622397	38622397	T	C	SCN5A	c.3228+25A>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38622397T>C	(Likely) benign	1 lab	3f55bae7f8
17:41246414 BRCA1 G>T	17	41246414	41246414	G	T	BRCA1	c.1134C>A	NM_007294.4	NP_009225.1:p.(Ser378Arg)	NC_000017.10:g.41246414G>T	VUS	1 lab	3f5628d278
1:228553265 OBSCN C>T	1	228553265	228553265	C	T	OBSCN	c.21934+4C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228553265C>T	(Likely) benign	1 lab	3f56b5800a
17:41203119 BRCA1 C>T	17	41203119	41203119	C	T	BRCA1	c.5293G>A	NM_007294.4	NP_009225.1:p.(Glu1765Lys)	NC_000017.10:g.41203119C>T	(Likely) benign	1 lab	3f5785f2a6
2:179633418 TTN C>G	2	179633418	179633418	C	G	TTN	c.9145G>C	NM_001267550.2	NP_001254479.2:p.(Ala3049Pro)	NC_000002.11:g.179633418C>G	VUS	1 lab	3f596722c2
12:52115657 SCN8A C>T	12	52115657	52115657	C	T	SCN8A	c.1963C>T	NM_014191.3	NP_055006.1:p.(Pro655Ser)	NC_000012.11:g.52115657C>T	(Likely) benign	1 lab	3f5a110a2a
17:18051491 MYO15A GC>G	17	18051491	18051493	GC	G	MYO15A	c.6660del	NM_016239.4	NP_057323.3:p.(Ser2221AlafsTer32)	NC_000017.10:g.18051493del	(Likely) pathogenic	1 lab	3f5c068717
16:66761611 DYNC1LI2 T>A	16	66761611	66761611	T	A	DYNC1LI2	c.1241A>T	NM_006141.2	NP_006132.1:p.(Lys414Met)	NC_000016.9:g.66761611T>A	VUS	1 lab	3f5c3f03d0
15:48756077 FBN1 G>C	15	48756077	48756077	G	C	FBN1	c.5065+19C>G	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48756077G>C	(Likely) benign	1 lab	05fbd3ba7b
20:3565429 ATRN C>A	20	3565429	3565429	C	A	ATRN				NC_000020.10:g.3565429C>A	VUS	1 lab	3f5de7c979
17:8025644 HES7 C>T	17	8025644	8025644	C	T	HES7	c.226+17G>A	NM_032580.3	NP_115969.2:p.?	NC_000017.10:g.8025644C>T	VUS	1 lab	3f5e621e26
17:56787314 RAD51C A>G	17	56787314	56787314	A	G	RAD51C	c.800A>G	NM_058216.2	NP_478123.1:p.(Gln267Arg)	NC_000017.10:g.56787314A>G	(Likely) benign	1 lab	3f5f55f910
9:138671159 KCNT1 C>A	9	138671159	138671159	C	A	KCNT1	c.2730-46C>A	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138671159C>A	(Likely) benign	1 lab	05fc570a5b
10:96087728 PLCE1 A>G	10	96087728	96087728	A	G	PLCE1	c.*28A>G	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96087728A>G	(Likely) benign	1 lab	3f5fa4d6fb
8:106815309 ZFPM2 A>G	8	106815309	106815309	A	G	ZFPM2	c.2999A>G	NM_012082.3	NP_036214.2:p.(His1000Arg)	NC_000008.10:g.106815309A>G	VUS	1 lab	3f5ffd4576
1:43396320 SLC2A1 C>T	1	43396320	43396320	C	T	SLC2A1	c.493G>A	NM_006516.2	NP_006507.2:p.(Val165Ile)	NC_000001.10:g.43396320C>T	(Likely) pathogenic	1 lab	3f605b2127
17:10427987 MYH2 C>T	17	10427987	10427987	C	T	MYH2	c.4972-1G>A	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10427987C>T	VUS	1 lab	3f60a348de
5:176943004 DDX41 C>T	5	176943004	176943004	C	T	DDX41	c.374-14G>A	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176943004C>T	(Likely) benign	1 lab	05fe2693cf
15:89876876 POLG TCGCTGGGGTCGGA>T	15	89876876	89876892	TCGCTGGGGTCGGA	T	POLG	c.97_109del	NM_002693.2	NP_002684.1:p.(Ser33ThrfsTer229)	NC_000015.9:g.89876880_89876892del	(Likely) pathogenic	1 lab	3f623e979c
1:94509045 ABCA4 A>T	1	94509045	94509045	A	T	ABCA4	c.3051-14T>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94509045A>T	(Likely) benign	1 lab	3f64f4c9d1
1:201336925 TNNT2 T>C	1	201336925	201336925	T	C	TNNT2	c.143A>G	NM_001276347.2	NP_001263276.1:p.(Glu48Gly)	NC_000001.10:g.201336925T>C	VUS	1 lab	05fe64c3b5
19:6496110 TUBB4A G>A	19	6496110	6496110	G	A	TUBB4A	c.553C>T	NM_001289123.1	NP_001276052.1:p.(Gln185Ter)	NC_000019.9:g.6496110G>A	VUS	1 lab	3f6a7f9aee
5:112151292 APC T>A	5	112151292	112151292	T	A	APC	c.933+2T>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112151292T>A	(Likely) pathogenic	1 lab	3f6c077ebe
16:56226536 GNAO1 C>T	16	56226536	56226536	C	T	GNAO1	c.161+8C>T	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56226536C>T	(Likely) benign	1 lab	06075cd7c6
17:4802025 CHRNE T>C	17	4802025	4802025	T	C	CHRNE	c.*6A>G	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4802025T>C	(Likely) benign	1 lab	3f6fc33c95
12:6443305 TNFRSF1A A>G	12	6443305	6443305	A	G	TNFRSF1A	c.145T>C	NM_001065.3	NP_001056.1:p.(Tyr49His)	NC_000012.11:g.6443305A>G	(Likely) pathogenic	1 lab	0607d713e9
17:58572010 MISSING GTTAA>G	17	58572010	58572016	GTTAA	G	MISSING				NC_000017.10:g.58572013_58572016del	(Likely) pathogenic	1 lab	3f71e6b0c8
13:25467010 CPAP CA>C	13	25467010	25467022	CA	C	CPAP	c.2992-6del	NM_018451.5	NP_060921.3:p.?	NC_000013.10:g.25467022del	(Likely) benign	1 lab	153223b778
11:108196901 ATM C>A	11	108196901	108196901	C	A	ATM	c.6924C>A	NM_000051.3	NP_000042.3:p.(Ala2308=)	NC_000011.9:g.108196901C>A	(Likely) benign	1 lab	3f72047aa8
1:41285904 KCNQ4 G>A	1	41285904	41285904	G	A	KCNQ4	c.1013G>A	NM_004700.3	NP_004691.2:p.(Arg338Gln)	NC_000001.10:g.41285904G>A	VUS	1 lab	3f777dcacf
X:115303944 AGTR2 C>A	X	115303944	115303944	C	A	AGTR2	c.411C>A	NM_000686.4	NP_000677.2:p.(Cys137Ter)	NC_000023.10:g.115303944C>A	(Likely) benign	1 lab	3f7b888664
13:32914458 BRCA2 C>T	13	32914458	32914458	C	T	BRCA2	c.5966C>T	NM_000059.4	NP_000050.3:p.(Ser1989Leu)	NC_000013.10:g.32914458C>T	VUS	1 lab	3f7bdc071c
1:237711791 RYR2 C>A	1	237711791	237711791	C	A	RYR2	c.2967C>A	NM_001035.3	NP_001026.2:p.(Thr989=)	NC_000001.10:g.237711791C>A	(Likely) benign	1 lab	3f9e0a1fa0
21:47536546 COL6A2 C>CT	21	47536546	47536547	C	CT	COL6A2	c.928-19_928-18insT	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47536546_47536547insT	(Likely) benign	1 lab	3f7d1aeb8a
2:96953706 SNRNP200 G>A	2	96953706	96953706	G	A	SNRNP200	c.3260C>T	NM_014014.4	NP_054733.2:p.(Ser1087Leu)	NC_000002.11:g.96953706G>A	(Likely) pathogenic	1 lab	3f8449a607
20:60899118 LAMA5 G>A	20	60899118	60899118	G	A	LAMA5	c.5768+18C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60899118G>A	(Likely) benign	1 lab	060b15955a
7:128491627 FLNC C>T	7	128491627	128491627	C	T	FLNC	c.5787C>T	NM_001458.4	NP_001449.3:p.(Ile1929=)	NC_000007.13:g.128491627C>T	(Likely) benign	1 lab	3f8a9d0403
1:74941037 TNNI3K A>G	1	74941037	74941037	A	G	TNNI3K	c.2121+11803A>G	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74941037A>G	(Likely) benign	1 lab	3f8b436cc7
12:6103281 VWF A>T	12	6103281	6103281	A	T	VWF	c.6345T>A	NM_000552.3	NP_000543.2:p.(Thr2115=)	NC_000012.11:g.6103281A>T	(Likely) benign	1 lab	3f8f6a1bde
14:102481500 DYNC1H1 G>A	14	102481500	102481500	G	A	DYNC1H1	c.7073G>A	NM_001376.4	NP_001367.2:p.(Arg2358His)	NC_000014.8:g.102481500G>A	(Likely) pathogenic	1 lab	3f9212d0e9
7:155599248 SHH A>G	7	155599248	155599248	A	G	SHH	c.304T>C	NM_000193.3	NP_000184.1:p.(Cys102Arg)	NC_000007.13:g.155599248A>G	(Likely) pathogenic	1 lab	3f92250df6
11:108164178 ATM A>G	11	108164178	108164178	A	G	ATM	c.4750A>G	NM_000051.4	NP_000042.3:p.(Ser1584Gly)	NC_000011.9:g.108164178A>G	VUS	1 lab	3f92fdd516
6:33639817 ITPR3 C>T	6	33639817	33639817	C	T	ITPR3	c.2740C>T	NM_002224.4	NP_002215.2:p.(Arg914Trp)	NC_000006.11:g.33639817C>T	VUS	1 lab	3f94072b73
9:108370218 FKTN C>A	9	108370218	108370218	C	A	FKTN	c.766C>A	NM_006731.2	NP_006722.2:p.(Arg256=)	NC_000009.11:g.108370218C>A	(Likely) benign	1 lab	3f990c10da
21:45712983 AIRE T>C	21	45712983	45712983	T	C	AIRE	c.1203T>C	NM_000383.4	NP_000374.1:p.(Pro401=)	NC_000021.8:g.45712983T>C	(Likely) benign	1 lab	3f9933ea64
2:167297887 SCN7A A>G	2	167297887	167297887	A	G	SCN7A	c.2157+19T>C	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167297887A>G	(Likely) benign	1 lab	3f9a39168a
Y:2655256 SRY C>G	Y	2655256	2655256	C	G	SRY	c.389G>C	NM_003140.2	NP_003131.1:p.(Arg130Pro)	NC_000024.9:g.2655256C>G	(Likely) pathogenic	1 lab	3f9d6391ee
10:102753065 TWNK C>T	10	102753065	102753065	C	T	TWNK	c.1853C>T	NM_021830.4	NP_068602.2:p.(Pro618Leu)	NC_000010.10:g.102753065C>T	VUS	1 lab	3f9ebf006e
1:155324288 ASH1L G>A	1	155324288	155324288	G	A	ASH1L	c.7189C>T	NM_018489.3	NP_060959.2:p.(Arg2397Ter)	NC_000001.10:g.155324288G>A	(Likely) pathogenic	1 lab	3fa3b66e0a
11:61520264 MYRF T>C	11	61520264	61520264	T	C	MYRF	c.46+2T>C	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61520264T>C	(Likely) pathogenic	1 lab	3fa545cc78
4:77660858 SHROOM3 T>C	4	77660858	77660858	T	C	SHROOM3	c.1532T>C	NM_020859.4	NP_065910.3:p.(Met511Thr)	NC_000004.11:g.77660858T>C	(Likely) benign	1 lab	3fa5fcfd8c
1:156106010 LMNA G>T	1	156106010	156106010	G	T	LMNA	c.1163G>T	NM_170707.4	NP_733821.1:p.(Arg388Leu)	NC_000001.10:g.156106010G>T	VUS	1 lab	3fa97f0d04
12:49426187 KMT2D G>A	12	49426187	49426187	G	A	KMT2D	c.12301C>T	NM_003482.4	NP_003473.3:p.(Gln4101Ter)	NC_000012.11:g.49426187G>A	(Likely) pathogenic	1 lab	3faf611c86
14:21870111 CHD8 C>G	14	21870111	21870111	C	G	CHD8	c.4062+5G>C	NM_001170629.1	NP_001164100.1:p.?	NC_000014.8:g.21870111C>G	VUS	1 lab	3fb23d687d
9:35800018 NPR2 G>C	9	35800018	35800018	G	C	NPR2	c.988-1G>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800018G>C	(Likely) pathogenic	1 lab	3fb3be07c8
2:166243112 SCN2A AT>A	2	166243112	166243123	AT	A	SCN2A	c.4552-133del	NM_001040142.2	NP_001035232.1:p.?	NC_000002.11:g.166243123del	(Likely) benign	1 lab	06124e188c
19:13427947 CACNA1A C>T	19	13427947	13427947	C	T	CACNA1A	c.1537G>A	NM_001127221.1	NP_001120693.1:p.(Glu513Lys)	NC_000019.9:g.13427947C>T	VUS	1 lab	3fb8088aa6
1:10238747 MISSING C>T	1	10238747	10238747	C	T	MISSING				NC_000001.10:g.10238747C>T	VUS	1 lab	3fbb66a6ea
5:176941982 DDX41 C>T	5	176941982	176941982	C	T	DDX41	c.733G>A	NM_016222.4	NP_057306.2:p.(Glu245Lys)	NC_000005.9:g.176941982C>T	VUS	1 lab	3fbdc2ff17
13:32903654 BRCA2 A>T	13	32903654	32903654	A	T	BRCA2	c.681+25A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32903654A>T	(Likely) benign	1 lab	3fbe54f067
19:36584942 WDR62 G>A	19	36584942	36584942	G	A	WDR62	c.2343G>A	NM_001083961.1	NP_001077430.1:p.(Thr781=)	NC_000019.9:g.36584942G>A	VUS	1 lab	3fbe55349e
6:35474073 TULP1 C>G	6	35474073	35474073	C	G	TULP1	c.823-17G>C	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35474073C>G	(Likely) benign	1 lab	3fbecd99a9
20:31021176 ASXL1 C>A	20	31021176	31021176	C	A	ASXL1	c.1175C>A	NM_015338.5	NP_056153.2:p.(Ser392Ter)	NC_000020.10:g.31021176C>A	(Likely) pathogenic	1 lab	3fc07584ed
2:128180889 PROC G>A	2	128180889	128180889	G	A	PROC	c.440G>A	NM_000312.3	NP_000303.1:p.(Cys147Tyr)	NC_000002.11:g.128180889G>A	(Likely) pathogenic	1 lab	3fc1f4a67b
2:179644023 TTN T>A	2	179644023	179644023	T	A	TTN	c.3896A>T	NM_001267550.2	NP_001254479.2:p.(Asn1299Ile)	NC_000002.11:g.179644023T>A	VUS	1 lab	3fc2bcc87e
17:29559822 NF1 C>G	17	29559822	29559822	C	G	NF1	c.3419C>G	NM_001042492.3	NP_001035957.1:p.(Ser1140Ter)	NC_000017.10:g.29559822C>G	(Likely) pathogenic	1 lab	3fc2cfdf94
14:31348034 COCH C>T	14	31348034	31348034	C	T	COCH	c.257C>T	NM_004086.2	NP_004077.1:p.(Ser86Leu)	NC_000014.8:g.31348034C>T	(Likely) benign	1 lab	3fc3a26acd
15:73615740 HCN4 G>T	15	73615740	73615740	G	T	HCN4	c.2694C>A	NM_005477.2	NP_005468.1:p.(Gly898=)	NC_000015.9:g.73615740G>T	(Likely) benign	1 lab	3fc47e2332
15:38641695 SPRED1 G>T	15	38641695	38641695	G	T	SPRED1	c.655G>T	NM_152594.3	NP_689807.1:p.(Glu219Ter)	NC_000015.9:g.38641695G>T	(Likely) pathogenic	1 lab	3fc4f8401f
11:67759087 UNC93B1 G>T	11	67759087	67759087	G	T	UNC93B1	c.1724C>A	NM_030930.2	NP_112192.2:p.(Pro575His)	NC_000011.9:g.67759087G>T	(Likely) benign	1 lab	061378a5be
12:52201117 SCN8A T>C	12	52201117	52201117	T	C	SCN8A	c.5847T>C	NM_001330260.2	NP_001317189.1:p.(Ser1949=)	NC_000012.11:g.52201117T>C	(Likely) benign	1 lab	3fc972e101
12:28122406 PTHLH G>A	12	28122406	28122406	G	A	PTHLH	c.22C>T	NM_198965.2	NP_945316.1:p.(Gln8Ter)	NC_000012.11:g.28122406G>A	(Likely) pathogenic	1 lab	3fcb4809ab
X:41205606 DDX3X A>T	X	41205606	41205606	A	T	DDX3X	c.1440A>T	NM_001356.3	NP_001347.3:p.(Arg480Ser)	NC_000023.10:g.41205606A>T	(Likely) pathogenic	1 lab	3fd3d57322
17:18034119 MYO15A A>T	17	18034119	18034119	A	T	MYO15A	c.4033A>T	NM_016239.4	NP_057323.3:p.(Ile1345Leu)	NC_000017.10:g.18034119A>T	(Likely) benign	1 lab	3fd7f0d9a4
2:47639728 MSH2 T>C	2	47639728	47639728	T	C	MSH2	c.792+29T>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47639728T>C	(Likely) benign	1 lab	3fd82e51e5
14:102470762 DYNC1H1 G>C	14	102470762	102470762	G	C	DYNC1H1	c.4884-93G>C	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102470762G>C	(Likely) benign	1 lab	06185db7ea
7:128495249 FLNC C>T	7	128495249	128495249	C	T	FLNC				NC_000007.13:g.128495249C>T	(Likely) benign	1 lab	3fda7b5730
17:41234420 BRCA1 C>T	17	41234420	41234420	C	T	BRCA1	c.4357+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41234420C>T	(Likely) pathogenic	1 lab	3fdc0f2cf9
18:29172949 TTR A>T	18	29172949	29172949	A	T	TTR	c.160A>T	NM_000371.4	NP_000362.1:p.(Arg54Ter)	NC_000018.9:g.29172949A>T	VUS	1 lab	15d15e0571
16:23619381 PALB2 G>A	16	23619381	23619381	G	A	PALB2	c.3202-48C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23619381G>A	(Likely) benign	1 lab	3fdc65a76a
19:45992636 RTN2 G>A	19	45992636	45992636	G	A	RTN2				NC_000019.9:g.45992636G>A	(Likely) benign	1 lab	f3850c8d6a
2:241713615 KIF1A G>A	2	241713615	241713615	G	A	KIF1A	c.1022C>T	NM_001244008.1	NP_001230937.1:p.(Thr341Ile)	NC_000002.11:g.241713615G>A	VUS	1 lab	3fdf26215e
2:179542270 TTN C>T	2	179542270	179542270	C	T	TTN	c.34291+78G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179542270C>T	VUS	1 lab	3fe187988d
1:155874166 RIT1 C>A	1	155874166	155874166	C	A	RIT1	c.416G>T	NM_001256821.1	NP_001243750.1:p.(Arg139Leu)	NC_000001.10:g.155874166C>A	(Likely) pathogenic	1 lab	3fe2a14994
2:179596079 TTN T>C	2	179596079	179596079	T	C	TTN	c.17414A>G	NM_001267550.2	NP_001254479.2:p.(Lys5805Arg)	NC_000002.11:g.179596079T>C	VUS	1 lab	3fe50511f6
1:987142 AGRN C>T	1	987142	987142	C	T	AGRN	c.5598C>T	NM_198576.4	NP_940978.2:p.(Thr1866=)	NC_000001.10:g.987142C>T	(Likely) benign	1 lab	3fe5aadd52
16:11348722 SOCS1 C>T	16	11348722	11348722	C	T	SOCS1	c.614G>A	NM_003745.1	NP_003736.1:p.(Ser205Asn)	NC_000016.9:g.11348722C>T	(Likely) benign	1 lab	0620342d11
1:41298799 KCNQ4 C>G	1	41298799	41298799	C	G	KCNQ4				NC_000001.10:g.41298799C>G	(Likely) benign	1 lab	3fe7bd19fd
16:23200848 SCNN1G T>C	16	23200848	23200848	T	C	SCNN1G	c.474T>C	NM_001039.3	NP_001030.2:p.(Ile158=)	NC_000016.9:g.23200848T>C	(Likely) benign	1 lab	3fec6ab889
2:149837858 KIF5C C>A	2	149837858	149837858	C	A	KIF5C	n.735-11C>A	NR_111932.2		NC_000002.11:g.149837858C>A	(Likely) benign	1 lab	62126b80b6
X:15343152 PIGA C>A	X	15343152	15343152	C	A	PIGA	c.971G>T	NM_002641.3	NP_002632.1:p.(Cys324Phe)	NC_000023.10:g.15343152C>A	(Likely) pathogenic	1 lab	4012ee17d4
12:52168095 SCN8A C>T	12	52168095	52168095	C	T	SCN8A	c.3768C>T	NM_014191.4	NP_055006.1:p.(Phe1256=)	NC_000012.11:g.52168095C>T	(Likely) benign	1 lab	3ff9666448
2:166166869 SCN2A T>C	2	166166869	166166869	T	C	SCN2A	c.734T>C	NM_021007.2	NP_066287.2:p.(Val245Ala)	NC_000002.11:g.166166869T>C	(Likely) pathogenic	1 lab	3ffbbe70cf
1:216011459 USH2A T>G	1	216011459	216011459	T	G	USH2A	c.9259-14A>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216011459T>G	(Likely) benign	1 lab	3ffdad087b
20:8708006 PLCB1 G>A	20	8708006	8708006	G	A	PLCB1				NC_000020.10:g.8708006G>A	VUS	1 lab	3ffef4d548
2:165947194 SCN3A A>T	2	165947194	165947194	A	T	SCN3A	c.5469T>A	NM_006922.3	NP_008853.3:p.(Pro1823=)	NC_000002.11:g.165947194A>T	(Likely) benign	1 lab	4000fb4efb
X:149826450 MTM1 G>A	X	149826450	149826450	G	A	MTM1	c.1210G>A	NM_000252.2	NP_000243.1:p.(Glu404Lys)	NC_000023.10:g.149826450G>A	VUS	1 lab	40032c60f2
20:42788622 JPH2 C>A	20	42788622	42788622	C	A	JPH2	c.805G>T	NM_020433.4	NP_065166.2:p.(Ala269Ser)	NC_000020.10:g.42788622C>A	(Likely) benign	1 lab	4004066233
11:47356563 MYBPC3 G>C	11	47356563	47356563	G	C	MYBPC3	c.2905+30C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356563G>C	(Likely) benign	1 lab	400450c395
5:1882788 IRX4 C>T	5	1882788	1882788	C	T	IRX4	c.-27G>A	NM_016358.2	NP_057442.1:p.?	NC_000005.9:g.1882788C>T	(Likely) benign	1 lab	f515434ca4
2:48028165 MSH6 T>G	2	48028165	48028165	T	G	MSH6	c.3043T>G	NM_000179.2	NP_000170.1:p.(Leu1015Val)	NC_000002.11:g.48028165T>G	(Likely) benign	1 lab	400779cd4a
16:2225929 TRAF7 G>A	16	2225929	2225929	G	A	TRAF7	c.1721G>A	NM_032271.2	NP_115647.2:p.(Cys574Tyr)	NC_000016.9:g.2225929G>A	(Likely) pathogenic	1 lab	400aea1f79
17:41246235 BRCA1 T>A	17	41246235	41246235	T	A	BRCA1	c.1313A>T	NM_007294.3	NP_009225.1:p.(Glu438Val)	NC_000017.10:g.41246235T>A	(Likely) benign	1 lab	400cb1e6ef
2:220338628 SPEG G>C	2	220338628	220338628	G	C	SPEG	c.4447+3G>C	NM_005876.4	NP_005867.3:p.?	NC_000002.11:g.220338628G>C	VUS	1 lab	400d84187b
12:114804184 TBX5 G>A	12	114804184	114804184	G	A	TBX5	c.768C>T	NM_000192.3	NP_000183.2:p.(Pro256=)	NC_000012.11:g.114804184G>A	(Likely) benign	1 lab	40168dc3a8
12:56578845 SMARCC2 A>G	12	56578845	56578845	A	G	SMARCC2				NC_000012.11:g.56578845A>G	VUS	1 lab	401b975ddf
22:30050629 NF2 C>T	22	30050629	30050629	C	T	NF2	c.448-17C>T	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30050629C>T	(Likely) benign	1 lab	401c754f83
8:55534041 RP1 T>G	8	55534041	55534041	T	G	RP1	c.515T>G	NM_006269.2	NP_006260.1:p.(Leu172Arg)	NC_000008.10:g.55534041T>G	(Likely) pathogenic	1 lab	401c8ebd29
X:32360294 DMD G>A	X	32360294	32360294	G	A	DMD	c.5845C>T	NM_004006.2	NP_003997.1:p.(Gln1949Ter)	NC_000023.10:g.32360294G>A	(Likely) pathogenic	1 lab	401d3c5699
7:128486134 FLNC A>G	7	128486134	128486134	A	G	FLNC	c.3881A>G	NM_001458.4	NP_001449.3:p.(Asn1294Ser)	NC_000007.13:g.128486134A>G	(Likely) benign	1 lab	401f9c9fbf
18:48604736 SMAD4 G>T	18	48604736	48604736	G	T	SMAD4	c.1558G>T	NM_005359.5	NP_005350.1:p.(Glu520Ter)	NC_000018.9:g.48604736G>T	(Likely) pathogenic	1 lab	402093fe98
X:107814642 COL4A5 G>C	X	107814642	107814642	G	C	COL4A5	c.385-1G>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107814642G>C	(Likely) pathogenic	1 lab	40256b951f
16:3706697 DNASE1 G>A	16	3706697	3706697	G	A	DNASE1	c.379G>A	NM_005223.3	NP_005214.2:p.(Gly127Arg)	NC_000016.9:g.3706697G>A	VUS	1 lab	402680c8ed
15:48559865 SLC12A1 C>T	15	48559865	48559865	C	T	SLC12A1	c.2262C>T	NM_000338.3	NP_000329.2:p.(Asp754=)	NC_000015.9:g.48559865C>T	(Likely) benign	1 lab	062c630829
16:21756254 OTOA G>T	16	21756254	21756254	G	T	OTOA	c.2672G>T	NM_144672.3	NP_653273.3:p.(Arg891Leu)	NC_000016.9:g.21756254G>T	VUS	1 lab	4028fbe969
3:52439922 BAP1 T>A	3	52439922	52439922	T	A	BAP1	c.790A>T	NM_004656.3	NP_004647.1:p.(Arg264Ter)	NC_000003.11:g.52439922T>A	(Likely) pathogenic	1 lab	40298a37f9
18:33779896 MOCOS A>G	18	33779896	33779896	A	G	MOCOS	c.550A>G	NM_017947.2	NP_060417.2:p.(Ser184Gly)	NC_000018.9:g.33779896A>G	(Likely) benign	1 lab	4029d413b4
2:99012481 CNGA3 G>A	2	99012481	99012481	G	A	CNGA3	c.848G>A	NM_001298.2	NP_001289.1:p.(Arg283Gln)	NC_000002.11:g.99012481G>A	(Likely) pathogenic	1 lab	402bb98721
17:7577121 TP53 G>A	17	7577121	7577121	G	A	TP53	c.817C>T	NM_000546.5	NP_000537.3:p.(Arg273Cys)	NC_000017.10:g.7577121G>A	(Likely) pathogenic	1 lab	402c040951
2:32288894 SPAST G>A	2	32288894	32288894	G	A	SPAST	c.-7G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32288894G>A	(Likely) benign	1 lab	402dcd8c0a
11:17655684 OTOG T>C	11	17655684	17655684	T	C	OTOG	c.7372T>C	NM_001277269.1	NP_001264198.1:p.(Cys2458Arg)	NC_000011.9:g.17655684T>C	VUS	1 lab	402e8ea953
3:38798327 SCN10A A>C	3	38798327	38798327	A	C	SCN10A	c.1128T>G	NM_006514.4	NP_006505.4:p.(Phe376Leu)	NC_000003.11:g.38798327A>C	VUS	1 lab	402f000d26
11:94583365 AMOTL1 G>A	11	94583365	94583365	G	A	AMOTL1	c.1735G>A	NM_130847.3	NP_570899.1:p.(Glu579Lys)	NC_000011.9:g.94583365G>A	VUS	1 lab	403044cba5
11:108143519 ATM C>T	11	108143519	108143519	C	T	ATM	c.3224C>T	NM_000051.3	NP_000042.3:p.(Thr1075Ile)	NC_000011.9:g.108143519C>T	VUS	1 lab	4035a2cbfb
3:37061870 MLH1 C>T	3	37061870	37061870	C	T	MLH1	c.954C>T	NM_000249.3	NP_000240.1:p.(His318=)	NC_000003.11:g.37061870C>T	(Likely) benign	1 lab	403625d643
11:61725739 BEST1 T>A	11	61725739	61725739	T	A	BEST1	c.836T>A	NM_004183.3	NP_004174.1:p.(Leu279Gln)	NC_000011.9:g.61725739T>A	(Likely) pathogenic	1 lab	403b919e9b
X:153219741 HCFC1 G>A	X	153219741	153219741	G	A	HCFC1	c.4109C>T	NM_005334.2	NP_005325.2:p.(Ser1370Leu)	NC_000023.10:g.153219741G>A	VUS	1 lab	403ed47c81
5:112175840 APC C>T	5	112175840	112175840	C	T	APC	c.4549C>T	NM_000038.6	NP_000029.2:p.(Gln1517Ter)	NC_000005.9:g.112175840C>T	(Likely) pathogenic	1 lab	4041b2292d
19:29698811 UQCRFS1 A>G	19	29698811	29698811	A	G	UQCRFS1	c.469T>C	NM_006003.2	NP_005994.2:p.(Ser157Pro)	NC_000019.9:g.29698811A>G	(Likely) pathogenic	1 lab	40424244d7
10:61932652 ANK3 G>T	10	61932652	61932652	G	T	ANK3	c.2382+6C>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61932652G>T	(Likely) benign	1 lab	15d23fc644
2:227917131 COL4A4 A>G	2	227917131	227917131	A	G	COL4A4	c.2861-3T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227917131A>G	(Likely) benign	1 lab	4042f75ff8
6:42672317 PRPH2 A>G	6	42672317	42672317	A	G	PRPH2	c.614T>C	NM_000322.4	NP_000313.2:p.(Leu205Pro)	NC_000006.11:g.42672317A>G	VUS	1 lab	404372984a
1:234510029 COA6 G>A	1	234510029	234510029	G	A	COA6	c.266G>A	NM_001206641.3	NP_001193570.2:p.(Trp89Ter)	NC_000001.10:g.234510029G>A	(Likely) pathogenic	1 lab	4043d00701
7:81695843 CACNA2D1 A>T	7	81695843	81695843	A	T	CACNA2D1	c.659-3T>A	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81695843A>T	(Likely) benign	1 lab	4043e82a42
1:236925836 ACTN2 G>A	1	236925836	236925836	G	A	ACTN2	c.2602G>A	NM_001103.3	NP_001094.1:p.(Ala868Thr)	NC_000001.10:g.236925836G>A	(Likely) benign	1 lab	062d7536e7
1:2985838 PRDM16 G>A	1	2985838	2985838	G	A	PRDM16	c.15G>A	NM_022114.3	NP_071397.3:p.(Ala5=)	NC_000001.10:g.2985838G>A	(Likely) benign	1 lab	40484fc5f3
12:111348946 MYL2 C>T	12	111348946	111348946	C	T	MYL2	c.436G>A	NM_000432.3	NP_000423.2:p.(Val146Met)	NC_000012.11:g.111348946C>T	VUS	1 lab	404b13d270
4:187201412 F11 T>C	4	187201412	187201412	T	C	F11	c.901T>C	NM_000128.4	NP_000119.1:p.(Phe301Leu)	NC_000004.11:g.187201412T>C	(Likely) pathogenic	1 lab	404cc17bcc
X:19377731 MAP3K15 G>A	X	19377731	19377731	G	A	MAP3K15				NC_000023.10:g.19377731G>A	(Likely) pathogenic	1 lab	405aec3bb9
8:41836272 KAT6A G>A	8	41836272	41836272	G	A	KAT6A	c.931C>T	NM_006766.4	NP_006757.2:p.(Arg311Ter)	NC_000008.10:g.41836272G>A	(Likely) pathogenic	1 lab	405bca463d
10:115374621 NRAP C>T	10	115374621	115374621	C	T	NRAP	c.3163G>A	NM_001261463.1	NP_001248392.1:p.(Ala1055Thr)	NC_000010.10:g.115374621C>T	(Likely) benign	1 lab	062f60e51f
11:118354982 KMT2A C>T	11	118354982	118354982	C	T	KMT2A	c.4171C>T	NM_001197104.1	NP_001184033.1:p.(Gln1391Ter)	NC_000011.9:g.118354982C>T	(Likely) pathogenic	1 lab	406035f3c3
X:153171213 AVPR2 G>A	X	153171213	153171213	G	A	AVPR2	c.253G>A	NM_000054.4	NP_000045.1:p.(Asp85Asn)	NC_000023.10:g.153171213G>A	(Likely) pathogenic	1 lab	4064837e3b
1:94577064 ABCA4 T>C	1	94577064	94577064	T	C	ABCA4				NC_000001.10:g.94577064T>C	(Likely) pathogenic	1 lab	4068f90446
14:23888796 MYH7 C>T	14	23888796	23888796	C	T	MYH7	c.3749G>A	NM_000257.3	NP_000248.2:p.(Arg1250Gln)	NC_000014.8:g.23888796C>T	VUS	1 lab	406a142b53
5:112151326 APC A>T	5	112151326	112151326	A	T	APC	c.933+36A>T	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112151326A>T	(Likely) benign	1 lab	406b291b02
12:49426640 KMT2D G>A	12	49426640	49426640	G	A	KMT2D	c.11848C>T	NM_003482.4	NP_003473.3:p.(Gln3950Ter)	NC_000012.11:g.49426640G>A	(Likely) pathogenic	1 lab	406f6b106a
11:47355474 MYBPC3 T>C	11	47355474	47355474	T	C	MYBPC3	c.2993A>G	NM_000256.3	NP_000247.2:p.(Gln998Arg)	NC_000011.9:g.47355474T>C	(Likely) pathogenic	1 lab	406fda3578
11:108099944 ATM G>A	11	108099944	108099944	G	A	ATM				NC_000011.9:g.108099944G>A	(Likely) benign	1 lab	4070dbd125
13:101755530 NALCN A>G	13	101755530	101755530	A	G	NALCN	c.3050T>C	NM_052867.2	NP_443099.1:p.(Ile1017Thr)	NC_000013.10:g.101755530A>G	(Likely) pathogenic	1 lab	4071b203ee
14:23886185 MYH7 C>G	14	23886185	23886185	C	G	MYH7	c.4536G>C	NM_000257.3	NP_000248.2:p.(Leu1512Phe)	NC_000014.8:g.23886185C>G	VUS	1 lab	4079a32c3e
1:169541549 F5 C>T	1	169541549	169541549	C	T	F5	c.283G>A	NM_000130.4	NP_000121.2:p.(Gly95Arg)	NC_000001.10:g.169541549C>T	(Likely) pathogenic	1 lab	407a33833b
1:228470777 OBSCN C>T	1	228470777	228470777	C	T	OBSCN	c.9816C>T	NM_001271223.2	NP_001258152.2:p.(Asp3272=)	NC_000001.10:g.228470777C>T	(Likely) benign	1 lab	407a6a01b6
9:130435538 STXBP1 C>T	9	130435538	130435538	C	T	STXBP1	c.1108C>T	NM_003165.3	NP_003156.1:p.(Gln370Ter)	NC_000009.11:g.130435538C>T	(Likely) pathogenic	1 lab	407ab8bb6f
22:50900299 SBF1 C>A	22	50900299	50900299	C	A	SBF1	c.2570-1G>T	NM_002972.2	NP_002963.2:p.?	NC_000022.10:g.50900299C>A	VUS	1 lab	40a137ebf6
6:112476824 LAMA4 A>G	6	112476824	112476824	A	G	LAMA4	c.1902T>C	NM_001105206.2	NP_001098676.2:p.(Val634=)	NC_000006.11:g.112476824A>G	(Likely) benign	1 lab	407d740708
1:215847628 USH2A G>A	1	215847628	215847628	G	A	USH2A	c.13625C>T	NM_206933.4	NP_996816.3:p.(Ala4542Val)	NC_000001.10:g.215847628G>A	VUS	1 lab	407fc00a33
11:17631688 OTOG C>T	11	17631688	17631688	C	T	OTOG	c.4877C>T	NM_001277269.1	NP_001264198.1:p.(Pro1626Leu)	NC_000011.9:g.17631688C>T	VUS	1 lab	408395d31f
17:41277443 BRCA1 A>G	17	41277443	41277443	A	G	BRCA1	c.-175T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277443A>G	(Likely) benign	1 lab	4084c9fcbc
5:90021052 ADGRV1 A>T	5	90021052	90021052	A	T	ADGRV1	c.10053+3A>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021052A>T	(Likely) pathogenic	1 lab	40858efe7e
2:179479607 TTN G>T	2	179479607	179479607	G	T	TTN	c.48727C>A	NM_001267550.2	NP_001254479.2:p.(Pro16243Thr)	NC_000002.11:g.179479607G>T	(Likely) benign	1 lab	408af0bff9
1:247588319 NLRP3 T>G	1	247588319	247588319	T	G	NLRP3	c.1568T>G	NM_001243133.2	NP_001230062.1:p.(Phe523Cys)	NC_000001.10:g.247588319T>G	(Likely) pathogenic	1 lab	0630fe44ed
9:77377147 TRPM6 A>T	9	77377147	77377147	A	T	TRPM6	c.4440T>A	NM_017662.4	NP_060132.3:p.(Cys1480Ter)	NC_000009.11:g.77377147A>T	(Likely) pathogenic	1 lab	408e93783c
X:13764488 OFD1 C>T	X	13764488	13764488	C	T	OFD1	c.568C>T	NM_003611.2	NP_003602.1:p.(Arg190Cys)	NC_000023.10:g.13764488C>T	(Likely) benign	1 lab	408f38eae0
4:517587 PIGG T>C	4	517587	517587	T	C	PIGG				NC_000004.11:g.517587T>C	VUS	1 lab	40909803f0
5:112174424 APC C>T	5	112174424	112174424	C	T	APC	c.3133C>T	NM_000038.6	NP_000029.2:p.(Gln1045Ter)	NC_000005.9:g.112174424C>T	(Likely) pathogenic	1 lab	409a752a28
2:129075684 HS6ST1 C>T	2	129075684	129075684	C	T	HS6ST1	c.454G>A	NM_004807.3	NP_004798.3:p.(Asp152Asn)	NC_000002.11:g.129075684C>T	VUS	1 lab	409a9d9019
3:38888588 SCN11A C>T	3	38888588	38888588	C	T	SCN11A	c.4973G>A	NM_014139.3	NP_054858.2:p.(Arg1658His)	NC_000003.11:g.38888588C>T	VUS	1 lab	409be36ca3
2:48915221 LHCGR G>A	2	48915221	48915221	G	A	LHCGR	c.1715C>T	NM_000233.3	NP_000224.2:p.(Ala572Val)	NC_000002.11:g.48915221G>A	(Likely) pathogenic	1 lab	409c0de772
17:33434025 RAD51D G>C	17	33434025	33434025	G	C	RAD51D	c.462C>G	NM_002878.3	NP_002869.3:p.(Thr154=)	NC_000017.10:g.33434025G>C	(Likely) benign	1 lab	409c17b37c
11:108099874 ATM G>A	11	108099874	108099874	G	A	ATM	c.186-31G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108099874G>A	(Likely) benign	1 lab	409debbd9c
17:29576067 NF1 TC>T	17	29576067	29576069	TC	T	NF1	c.4042del	NM_001042492.3	NP_001035957.1:p.(His1348MetfsTer30)	NC_000017.10:g.29576069del	(Likely) pathogenic	1 lab	40a28e72fc
12:103310989 PAH G>A	12	103310989	103310989	G	A	PAH				NC_000012.11:g.103310989G>A	(Likely) benign	1 lab	f85d1243dd
X:17739751 NHS CT>C	X	17739751	17739752	CT	C	NHS	c.1044del	NM_198270.3	NP_938011.1:p.(Gly349GlufsTer27)	NC_000023.10:g.17739752del	(Likely) pathogenic	1 lab	40a76152a8
1:201335972 TNNT2 T>C	1	201335972	201335972	T	C	TNNT2	c.197A>G	NM_001001430.3	NP_001001430.1:p.(Lys66Arg)	NC_000001.10:g.201335972T>C	VUS	1 lab	40a7e320be
17:59761384 BRIP1 A>G	17	59761384	59761384	A	G	BRIP1	c.3023T>C	NM_032043.3	NP_114432.2:p.(Leu1008Ser)	NC_000017.10:g.59761384A>G	VUS	1 lab	40a88d062e
22:29747702 AP1B1 T>C	22	29747702	29747702	T	C	AP1B1	c.1051A>G	NM_001127.3	NP_001118.3:p.(Ile351Val)	NC_000022.10:g.29747702T>C	VUS	1 lab	40abb0f1ca
13:32912984 BRCA2 G>C	13	32912984	32912984	G	C	BRCA2	c.4492G>C	NM_000059.3	NP_000050.2:p.(Gly1498Arg)	NC_000013.10:g.32912984G>C	(Likely) benign	1 lab	40ae28d865
19:4550934 SEMA6B C>T	19	4550934	4550934	C	T	SEMA6B	c.998G>A	NM_032108.4	NP_115484.2:p.(Gly333Asp)	NC_000019.9:g.4550934C>T	VUS	1 lab	40b2d08ec1
16:23614833 PALB2 G>A	16	23614833	23614833	G	A	PALB2	c.3508C>T	NM_024675.3	NP_078951.2:p.(His1170Tyr)	NC_000016.9:g.23614833G>A	(Likely) benign	1 lab	40b3c0c54c
5:137721841 KDM3B G>T	5	137721841	137721841	G	T	KDM3B	c.911G>T	NM_016604.4	NP_057688.3:p.(Gly304Val)	NC_000005.9:g.137721841G>T	VUS	1 lab	40b742a03e
X:107827715 COL4A5 G>A	X	107827715	107827715	G	A	COL4A5	c.992G>A	NM_033380.2	NP_203699.1:p.(Gly331Asp)	NC_000023.10:g.107827715G>A	(Likely) pathogenic	1 lab	40b9add6fb
X:144905523 SLITRK2 A>G	X	144905523	144905523	A	G	SLITRK2	c.1580A>G	NM_032539.5	NP_115928.1:p.(Gln527Arg)	NC_000023.10:g.144905523A>G	VUS	1 lab	40bead4682
2:228145195 COL4A3 C>T	2	228145195	228145195	C	T	COL4A3	c.2263C>T	NM_000091.4	NP_000082.2:p.(Pro755Ser)	NC_000002.11:g.228145195C>T	VUS	1 lab	40c0c94f44
2:167163520 SCN9A A>T	2	167163520	167163520	A	T	SCN9A	c.323T>A	NM_002977.3	NP_002968.1:p.(Met108Lys)	NC_000002.11:g.167163520A>T	VUS	1 lab	40c47e7bec
6:42977066 PPP2R5D G>A	6	42977066	42977066	G	A	PPP2R5D	c.1258G>A	NM_006245.3	NP_006236.1:p.(Glu420Lys)	NC_000006.11:g.42977066G>A	(Likely) pathogenic	1 lab	40c634ad7d
9:95480934 BICD2 C>T	9	95480934	95480934	C	T	BICD2	c.1993G>A	NM_001003800.1	NP_001003800.1:p.(Val665Met)	NC_000009.11:g.95480934C>T	(Likely) benign	1 lab	40cf805e0e
13:32893492 BRCA2 G>A	13	32893492	32893492	G	A	BRCA2	c.316+30G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893492G>A	(Likely) benign	1 lab	40cfe35a71
4:52904399 SGCB T>TGCG	4	52904399	52904402	T	TGCG	SGCB	c.26_27insCGC	NM_000232.4	NP_000223.1:p.(Ala9dup)	NC_000004.11:g.52904401_52904402insGGC	(Likely) benign	1 lab	40d0bbb0f5
X:119679349 CUL4B C>CA	X	119679349	119679356	C	CA	CUL4B	c.869dup	NM_001079872.2	NP_001073341.1:p.(Leu290PhefsTer5)	NC_000023.10:g.119679356dup	(Likely) pathogenic	1 lab	40d1a3a12b
11:68312494 PPP6R3 T>G	11	68312494	68312494	T	G	PPP6R3	c.414+2T>G	NM_001164160.1	NP_001157632.1:p.?	NC_000011.9:g.68312494T>G	VUS	1 lab	40d21020b7
X:82764038 POU3F4 G>A	X	82764038	82764038	G	A	POU3F4	c.706G>A	NM_000307.4	NP_000298.3:p.(Glu236Lys)	NC_000023.10:g.82764038G>A	VUS	1 lab	40d225790d
2:182414384 CERKL G>A	2	182414384	182414384	G	A	CERKL	c.950C>T	NM_001030311.2	NP_001025482.1:p.(Thr317Ile)	NC_000002.11:g.182414384G>A	VUS	1 lab	40d7d50171
6:31916644 CFB C>T	6	31916644	31916644	C	T	CFB	c.1074C>T	NM_001710.5	NP_001701.2:p.(Ala358=)	NC_000006.11:g.31916644C>T	VUS	1 lab	40dbc46872
2:179527824 TTN T>C	2	179527824	179527824	T	C	TTN	c.36701-42A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527824T>C	(Likely) benign	1 lab	40dd7ca34c
1:145457605 MISSING C>T	1	145457605	145457605	C	T	MISSING				NC_000001.10:g.145457605C>T	(Likely) pathogenic	1 lab	40dfa978f0
12:25380256 KRAS T>A	12	25380256	25380256	T	A	KRAS	c.202A>T	NM_004985.5	NP_004976.2:p.(Arg68Trp)	NC_000012.11:g.25380256T>A	(Likely) pathogenic	1 lab	40e28cb3be
11:108236230 ATM G>T	11	108236230	108236230	G	T	ATM	c.9166G>T	NM_000051.4	NP_000042.3:p.(Val3056Leu)	NC_000011.9:g.108236230G>T	VUS	1 lab	40e3af3ae8
4:6303543 WFS1 G>A	4	6303543	6303543	G	A	WFS1	c.2021G>A	NM_006005.3	NP_005996.2:p.(Gly674Glu)	NC_000004.11:g.6303543G>A	VUS	1 lab	40e4248f66
6:56380482 DST A>G	6	56380482	56380482	A	G	DST	c.18358-16T>C	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56380482A>G	(Likely) benign	1 lab	063920fc24
16:66959025 RRAD G>C	16	66959025	66959025	G	C	RRAD	c.58C>G	NM_004165.3	NP_004156.1:p.(Arg20Gly)	NC_000016.9:g.66959025G>C	VUS	1 lab	40e9ceb2df
11:76919825 MYO7A G>A	11	76919825	76919825	G	A	MYO7A	c.6028G>A	NM_000260.3	NP_000251.3:p.(Asp2010Asn)	NC_000011.9:g.76919825G>A	(Likely) pathogenic	1 lab	40eb2c5257
12:48293716 VDR G>T	12	48293716	48293716	G	T	VDR	c.-180C>A	NM_001017535.1	NP_001017535.1:p.?	NC_000012.11:g.48293716G>T	(Likely) benign	1 lab	40eb65528f
15:72581554 CELF6 C>T	15	72581554	72581554	C	T	CELF6	c.955G>A	NM_052840.4	NP_443072.3:p.(Gly319Ser)	NC_000015.9:g.72581554C>T	VUS	1 lab	40ecba0a03
9:140137399 TUBB4B AGGCCAGC>CGGCCAGA	9	140137399	140137406	AGGCCAGC	CGGCCAGA	TUBB4B	c.729_736delinsCGGCCAGA	NM_006088.6	NP_006079.1:p.(Leu246Ile)	NC_000009.11:g.140137399_140137406delinsCGGCCAGA	(Likely) pathogenic	1 lab	40ed698825
12:133250143 POLE G>A	12	133250143	133250143	G	A	POLE	c.1359+18C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133250143G>A	(Likely) benign	1 lab	40ee576e14
10:56077032 PCDH15 G>A	10	56077032	56077032	G	A	PCDH15	c.890C>T	NM_001142763.1	NP_001136235.1:p.(Pro297Leu)	NC_000010.10:g.56077032G>A	VUS	1 lab	40f1a8c7c7
1:152276726 FLG G>C	1	152276726	152276726	G	C	FLG	c.10636C>G	NM_002016.2	NP_002007.1:p.(Gln3546Glu)	NC_000001.10:g.152276726G>C	(Likely) benign	1 lab	40f494e1d9
7:150644131 KCNH2 C>T	7	150644131	150644131	C	T	KCNH2	c.3164G>A	NM_000238.3	NP_000229.1:p.(Arg1055Gln)	NC_000007.13:g.150644131C>T	(Likely) benign	1 lab	40f9c5890c
5:14390384 TRIO A>T	5	14390384	14390384	A	T	TRIO	c.4103A>T	NM_007118.2	NP_009049.2:p.(Asp1368Val)	NC_000005.9:g.14390384A>T	(Likely) pathogenic	1 lab	40fa5577b9
6:6167833 F13A1 A>T	6	6167833	6167833	A	T	F13A1	c.1766T>A	NM_000129.3	NP_000120.2:p.(Leu589Gln)	NC_000006.11:g.6167833A>T	(Likely) benign	1 lab	40fad8d18c
X:41598636 CASK C>T	X	41598636	41598636	C	T	CASK	c.429+1G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41598636C>T	(Likely) pathogenic	1 lab	40fbe6f4d5
17:44248814 KANSL1 G>A	17	44248814	44248814	G	A	KANSL1				NC_000017.10:g.44248814G>A	(Likely) benign	1 lab	41019ab8fa
22:29091714 CHEK2 C>T	22	29091714	29091714	C	T	CHEK2	c.1243G>A	NM_007194.4	NP_009125.1:p.(Val415Ile)	NC_000022.10:g.29091714C>T	VUS	1 lab	4102cea7bc
3:38627473 SCN5A G>A	3	38627473	38627473	G	A	SCN5A	c.2496C>T	NM_198056.2	NP_932173.1:p.(Ile832=)	NC_000003.11:g.38627473G>A	(Likely) benign	1 lab	4106a7dea9
19:13428087 CACNA1A G>A	19	13428087	13428087	G	A	CACNA1A	c.1397C>T	NM_023035.2	NP_075461.2:p.(Ser466Leu)	NC_000019.9:g.13428087G>A	VUS	1 lab	4108720a5d
7:131193695 PODXL C>A	7	131193695	131193695	C	A	PODXL	c.1101+15G>T	NM_001018111.2	NP_001018121.1:p.?	NC_000007.13:g.131193695C>A	(Likely) benign	1 lab	4109289847
X:46434150 CHST7 C>T	X	46434150	46434150	C	T	CHST7	c.784C>T	NM_019886.3	NP_063939.2:p.(Pro262Ser)	NC_000023.10:g.46434150C>T	(Likely) benign	1 lab	41095cf6cd
3:70014000 MITF A>T	3	70014000	70014000	A	T	MITF	c.861A>T	NM_000248.3	NP_000239.1:p.(Glu287Asp)	NC_000003.11:g.70014000A>T	(Likely) benign	1 lab	410a3fe87e
6:118880640 PLN T>G	6	118880640	118880640	T	G	PLN	c.*397T>G	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880640T>G	(Likely) benign	1 lab	410bf8a638
11:120998553 TECTA T>C	11	120998553	120998553	T	C	TECTA				NC_000011.9:g.120998553T>C	VUS	1 lab	410c910d6c
12:57958280 KIF5A A>T	12	57958280	57958280	A	T	KIF5A	c.434A>T	NM_004984.4	NP_004975.2:p.(Asp145Val)	NC_000012.11:g.57958280A>T	VUS	1 lab	410f5a6d3c
22:38374119 SOX10 C>T	22	38374119	38374119	C	T	SOX10				NC_000022.10:g.38374119C>T	VUS	1 lab	41110af88d
14:23884598 MYH7 T>C	14	23884598	23884598	T	C	MYH7	c.5275A>G	NM_000257.2	NP_000248.2:p.(Ile1759Val)	NC_000014.8:g.23884598T>C	VUS	1 lab	4115a8892b
5:176719137 NSD1 CA>C	5	176719137	176719139	CA	C	NSD1	c.6443del	NM_022455.4	NP_071900.2:p.(Asn2148IlefsTer2)	NC_000005.9:g.176719139del	(Likely) pathogenic	1 lab	411601ea5b
1:22165963 HSPG2 T>C	1	22165963	22165963	T	C	HSPG2	c.9790A>G	NM_005529.6	NP_005520.4:p.(Ile3264Val)	NC_000001.10:g.22165963T>C	(Likely) benign	1 lab	063a5cfb07
3:123010104 ADCY5 C>T	3	123010104	123010104	C	T	ADCY5	c.3183G>A	NM_183357.2	NP_899200.1:p.(Glu1061=)	NC_000003.11:g.123010104C>T	(Likely) benign	1 lab	4119a20e6c
10:89711907 PTEN GTAT>G	10	89711907	89711916	GTAT	G	PTEN	c.532_534del	NM_000314.8	NP_000305.3:p.(Tyr178del)	NC_000010.10:g.89711914_89711916del	(Likely) pathogenic	1 lab	411ad6e462
11:70332585 SHANK2 TC>T	11	70332585	70332589	TC	T	SHANK2	c.3812del	NM_012309.5	NP_036441.2:p.(Gly1271AspfsTer3)	NC_000011.9:g.70332589del	(Likely) pathogenic	1 lab	411b5d897b
2:149226021 MBD5 T>G	2	149226021	149226021	T	G	MBD5	c.509T>G	NM_001378120.1	NP_001365049.1:p.(Leu170Ter)	NC_000002.11:g.149226021T>G	(Likely) pathogenic	1 lab	411cdc6704
8:61763070 CHD7 C>T	8	61763070	61763070	C	T	CHD7				NC_000008.10:g.61763070C>T	VUS	1 lab	411dd57260
3:10391871 ATP2B2 G>A	3	10391871	10391871	G	A	ATP2B2	c.2329C>T	NM_001001331.2	NP_001001331.1:p.(Arg777Ter)	NC_000003.11:g.10391871G>A	(Likely) pathogenic	1 lab	411fab55d2
X:41047287 USP9X C>T	X	41047287	41047287	C	T	USP9X	c.3727C>T	NM_001039590.2	NP_001034679.2:p.(Gln1243Ter)	NC_000023.10:g.41047287C>T	(Likely) pathogenic	1 lab	4121b3c2bd
11:108139191 ATM T>C	11	108139191	108139191	T	C	ATM	c.2693T>C	NM_000051.4	NP_000042.3:p.(Leu898Ser)	NC_000011.9:g.108139191T>C	VUS	1 lab	4121c33040
17:39942836 JUP G>C	17	39942836	39942836	G	C	JUP	c.-9+4C>G	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39942836G>C	(Likely) benign	1 lab	063ad9c986
20:3193879 ITPA C>T	20	3193879	3193879	C	T	ITPA	c.124+7C>T	NM_033453.3	NP_258412.1:p.?	NC_000020.10:g.3193879C>T	(Likely) benign	1 lab	412b52b84b
7:117431242 CTTNBP2 GGT>G	7	117431242	117431244	GGT	G	CTTNBP2				NC_000007.13:g.117431243_117431244del	VUS	1 lab	4130161eaf
1:228509846 OBSCN A>C	1	228509846	228509846	A	C	OBSCN	c.18175A>C	NM_001271223.2	NP_001258152.2:p.(Ile6059Leu)	NC_000001.10:g.228509846A>C	(Likely) benign	1 lab	41341679fd
11:119103216 CBL T>C	11	119103216	119103216	T	C	CBL				NC_000011.9:g.119103216T>C	VUS	1 lab	43bcf2a59f
6:157522598 ARID1B C>T	6	157522598	157522598	C	T	ARID1B	c.5119C>T	NM_001374820.1	NP_001361749.1:p.(Arg1707Ter)	NC_000006.11:g.157522598C>T	(Likely) pathogenic	1 lab	413590a18d
17:7123842 ACADVL C>G	17	7123842	7123842	C	G	ACADVL	c.198C>G	NM_000018.3	NP_000009.1:p.(Ala66=)	NC_000017.10:g.7123842C>G	(Likely) benign	1 lab	4136ac82ae
8:55539353 RP1 A>G	8	55539353	55539353	A	G	RP1	c.2911A>G	NM_006269.1	NP_006260.1:p.(Ser971Gly)	NC_000008.10:g.55539353A>G	VUS	1 lab	4139289d89
19:10904506 DNM2 A>T	19	10904506	10904506	A	T	DNM2	c.1103A>T	NM_001005361.3	NP_001005361.1:p.(Glu368Val)	NC_000019.9:g.10904506A>T	(Likely) pathogenic	1 lab	413c73de88
19:19308354 RFXANK A>T	19	19308354	19308354	A	T	RFXANK	c.362A>T	NM_003721.3	NP_003712.1:p.(Asp121Val)	NC_000019.9:g.19308354A>T	(Likely) pathogenic	1 lab	413c99583e
13:78474786 EDNRB G>A	13	78474786	78474786	G	A	EDNRB	c.955C>T	NM_001122659.3	NP_001116131.1:p.(Arg319Trp)	NC_000013.10:g.78474786G>A	(Likely) pathogenic	1 lab	413e64a6a4
15:63356574 TPM1 G>A	15	63356574	63356574	G	A	TPM1	c.851+233G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63356574G>A	(Likely) benign	1 lab	413ecdc00a
19:55663269 TNNI3 C>T	19	55663269	55663269	C	T	TNNI3	c.566G>A	NM_000363.4	NP_000354.4:p.(Gly189Glu)	NC_000019.9:g.55663269C>T	VUS	1 lab	637b055a24
2:179412440 TTN C>T	2	179412440	179412440	C	T	TTN	c.93913G>A	NM_001267550.2	NP_001254479.2:p.(Val31305Ile)	NC_000002.11:g.179412440C>T	(Likely) benign	1 lab	413edd778a
12:80735947 OTOGL G>A	12	80735947	80735947	G	A	OTOGL	c.5238+5G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80735947G>A	(Likely) pathogenic	1 lab	4140521f71
3:48612638 COL7A1 A>C	3	48612638	48612638	A	C	COL7A1	c.6216+2T>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48612638A>C	(Likely) pathogenic	1 lab	414bb57f81
2:227968756 COL4A4 G>A	2	227968756	227968756	G	A	COL4A4	c.748C>T	NM_000092.5	NP_000083.3:p.(Gln250Ter)	NC_000002.11:g.227968756G>A	(Likely) pathogenic	1 lab	414d6ff0b2
3:37050314 MLH1 C>CT	3	37050314	37050320	C	CT	MLH1	c.469dup	NM_000249.3	NP_000240.1:p.(Tyr157LeufsTer15)	NC_000003.11:g.37050320dup	(Likely) pathogenic	1 lab	414f88a0b8
2:167134622 SCN9A T>C	2	167134622	167134622	T	C	SCN9A	c.2484+28A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167134622T>C	(Likely) benign	1 lab	414fbf32db
2:175618381 CHRNA1 A>G	2	175618381	175618381	A	G	CHRNA1	c.703T>C	NM_001039523.2	NP_001034612.1:p.(Tyr235His)	NC_000002.11:g.175618381A>G	VUS	1 lab	41523eaae5
12:6443274 TNFRSF1A C>T	12	6443274	6443274	C	T	TNFRSF1A	c.176G>A	NM_001065.3	NP_001056.1:p.(Cys59Tyr)	NC_000012.11:g.6443274C>T	(Likely) pathogenic	1 lab	063bf73b31
2:166897916 SCN1A A>G	2	166897916	166897916	A	G	SCN1A	c.2240T>C	NM_001165963.1	NP_001159435.1:p.(Ile747Thr)	NC_000002.11:g.166897916A>G	VUS	1 lab	41532927c9
12:33049508 PKP2 C>A	12	33049508	33049508	C	A	PKP2	c.158G>T	NM_004572.3	NP_004563.2:p.(Ser53Ile)	NC_000012.11:g.33049508C>A	VUS	1 lab	41570c7063
2:227876898 COL4A4 T>C	2	227876898	227876898	T	C	COL4A4	c.4332A>G	NM_000092.4	NP_000083.3:p.(Pro1444=)	NC_000002.11:g.227876898T>C	VUS	1 lab	415afb1a9d
13:32929166 BRCA2 A>G	13	32929166	32929166	A	G	BRCA2	c.7176A>G	NM_000059.3	NP_000050.2:p.(Lys2392=)	NC_000013.10:g.32929166A>G	VUS	1 lab	063e431e3b
1:11852516 MTHFR C>T	1	11852516	11852516	C	T	MTHFR	c.1531-80G>A	NM_005957.4	NP_005948.3:p.?	NC_000001.10:g.11852516C>T	(Likely) benign	1 lab	063f3b850b
7:87774486 ADAM22 A>G	7	87774486	87774486	A	G	ADAM22	c.1367A>G	NM_021723.3	NP_068369.1:p.(Glu456Gly)	NC_000007.13:g.87774486A>G	VUS	1 lab	416ae1ea42
20:42744514 JPH2 T>G	20	42744514	42744514	T	G	JPH2	c.1801A>C	NM_020433.4	NP_065166.2:p.(Thr601Pro)	NC_000020.10:g.42744514T>G	VUS	1 lab	416cfcc145
1:957898 AGRN G>T	1	957898	957898	G	T	AGRN	c.463+56G>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.957898G>T	(Likely) benign	1 lab	41b66f2089
2:228172552 COL4A3 G>C	2	228172552	228172552	G	C	COL4A3	c.4379G>C	NM_000091.4	NP_000082.2:p.(Cys1460Ser)	NC_000002.11:g.228172552G>C	(Likely) pathogenic	1 lab	416f81bbab
X:154159454 F8 CAG>C	X	154159454	154159456	CAG	C	F8	c.2609_2610del	NM_000132.4	NP_000123.1:p.(Pro870ArgfsTer10)	NC_000023.10:g.154159455_154159456del	(Likely) pathogenic	1 lab	41755bc22b
2:44566372 PREPL G>A	2	44566372	44566372	G	A	PREPL	c.883C>T	NM_006036.4	NP_006027.2:p.(Arg295Ter)	NC_000002.11:g.44566372G>A	(Likely) pathogenic	1 lab	4178813b24
20:10388361 MKKS G>A	20	10388361	10388361	G	A	MKKS	c.1175C>T	NM_018848.3	NP_061336.1:p.(Thr392Met)	NC_000020.10:g.10388361G>A	VUS	1 lab	417b8a260b
16:1255107 CACNA1H C>T	16	1255107	1255107	C	T	CACNA1H	c.2452-7C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1255107C>T	(Likely) benign	1 lab	063f907403
2:216256344 FN1 C>G	2	216256344	216256344	C	G	FN1	c.4252+11G>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216256344C>G	(Likely) benign	1 lab	417c6c105c
2:47709945 MSH2 C>A	2	47709945	47709945	C	A	MSH2	c.2662C>A	NM_000251.2	NP_000242.1:p.(Leu888Met)	NC_000002.11:g.47709945C>A	VUS	1 lab	417cb8968f
16:2153655 PKD1 C>T	16	2153655	2153655	C	T	PKD1	c.8403G>A	NM_001009944.2	NP_001009944.2:p.(Gly2801=)	NC_000016.9:g.2153655C>T	(Likely) benign	1 lab	063ff118a4
1:44386520 ST3GAL3 G>C	1	44386520	44386520	G	C	ST3GAL3	c.958G>C	NM_006279.4	NP_006270.1:p.(Ala320Pro)	NC_000001.10:g.44386520G>C	(Likely) pathogenic	1 lab	417ebe5540
1:35476588 ZMYM6 G>A	1	35476588	35476588	G	A	ZMYM6	c.1112C>T	NM_007167.3	NP_009098.3:p.(Ser371Phe)	NC_000001.10:g.35476588G>A	VUS	1 lab	418544d375
1:196965193 CFHR5 G>A	1	196965193	196965193	G	A	CFHR5	c.832G>A	NM_030787.4	NP_110414.1:p.(Gly278Ser)	NC_000001.10:g.196965193G>A	VUS	1 lab	41880e028b
12:88513888 CEP290 T>A	12	88513888	88513888	T	A	CEP290	c.1522+3A>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88513888T>A	VUS	1 lab	4189b5a355
22:24718182 SPECC1L G>C	22	24718182	24718182	G	C	SPECC1L	c.1234G>C	NM_015330.6	NP_056145.5:p.(Glu412Gln)	NC_000022.10:g.24718182G>C	(Likely) pathogenic	1 lab	418bdc2084
16:1576615 IFT140 C>T	16	1576615	1576615	C	T	IFT140	c.2577+5G>A	NM_014714.3	NP_055529.2:p.?	NC_000016.9:g.1576615C>T	VUS	1 lab	419091d194
10:68940178 CTNNA3 G>A	10	68940178	68940178	G	A	CTNNA3	c.944C>T	NM_013266.3	NP_037398.2:p.(Ala315Val)	NC_000010.10:g.68940178G>A	VUS	1 lab	419156c5d0
1:228494793 OBSCN G>A	1	228494793	228494793	G	A	OBSCN	c.14989G>A	NM_001271223.2	NP_001258152.2:p.(Val4997Met)	NC_000001.10:g.228494793G>A	(Likely) benign	1 lab	4194ae40e5
17:54912339 DGKE G>A	17	54912339	54912339	G	A	DGKE	c.183G>A	NM_003647.2	NP_003638.1:p.(Gly61=)	NC_000017.10:g.54912339G>A	(Likely) benign	1 lab	419554bbeb
13:24448984 MIPEP C>A	13	24448984	24448984	C	A	MIPEP	c.603+1G>T	NM_005932.3	NP_005923.2:p.?	NC_000013.10:g.24448984C>A	VUS	1 lab	419696b657
2:167056315 SCN9A T>G	2	167056315	167056315	T	G	SCN9A	c.4801A>C	NM_002977.3	NP_002968.1:p.(Ile1601Leu)	NC_000002.11:g.167056315T>G	VUS	1 lab	41970740ab
3:121509055 IQCB1 G>A	3	121509055	121509055	G	A	IQCB1	c.994C>T	NM_001023570.2	NP_001018864.2:p.(Arg332Ter)	NC_000003.11:g.121509055G>A	(Likely) pathogenic	1 lab	41983fe6f4
1:21902363 ALPL C>T	1	21902363	21902363	C	T	ALPL	c.1135C>T	NM_000478.5	NP_000469.3:p.(His379Tyr)	NC_000001.10:g.21902363C>T	(Likely) pathogenic	1 lab	4199aef82b
2:228154799 COL4A3 TG>T	2	228154799	228154800	TG	T	COL4A3	c.3066del	NM_000091.4	NP_000082.2:p.(Met1022IlefsTer132)	NC_000002.11:g.228154800del	(Likely) pathogenic	1 lab	419cde0aa4
5:82832821 VCAN T>A	5	82832821	82832821	T	A	VCAN	c.4004-5T>A	NM_004385.4	NP_004376.2:p.?	NC_000005.9:g.82832821T>A	(Likely) pathogenic	1 lab	41a0ef3954
3:119133666 ARHGAP31 C>T	3	119133666	119133666	C	T	ARHGAP31				NC_000003.11:g.119133666C>T	(Likely) pathogenic	1 lab	f8c3dffa46
19:3977364 EEF2 A>T	19	3977364	3977364	A	T	EEF2	c.2251-19T>A	NM_001961.4	NP_001952.1:p.?	NC_000019.9:g.3977364A>T	(Likely) benign	1 lab	0646c4174e
2:68622899 PLEK G>A	2	68622899	68622899	G	A	PLEK	c.1004G>A	NM_002664.2	NP_002655.2:p.(Arg335His)	NC_000002.11:g.68622899G>A	(Likely) benign	1 lab	41a5ce2090
14:61115711 SIX1 A>C	14	61115711	61115711	A	C	SIX1	c.197T>G	NM_005982.4	NP_005973.1:p.(Leu66Arg)	NC_000014.8:g.61115711A>C	VUS	1 lab	41ad9d0734
14:51088595 ATL1 C>A	14	51088595	51088595	C	A	ATL1	c.1025C>A	NM_015915.5	NP_056999.2:p.(Pro342Gln)	NC_000014.8:g.51088595C>A	VUS	1 lab	41b0747052
3:9482247 SETD5 C>A	3	9482247	9482247	C	A	SETD5	c.675C>A	NM_001080517.1	NP_001073986.1:p.(Tyr225Ter)	NC_000003.11:g.9482247C>A	(Likely) pathogenic	1 lab	41b25bd044
1:207647201 CR2 G>A	1	207647201	207647201	G	A	CR2				NC_000001.10:g.207647201G>A	VUS	1 lab	41b537358c
7:30634333 GARS1 C>T	7	30634333	30634333	C	T	GARS1	c.-205C>T	NM_002047.2	NP_002038.2:p.?	NC_000007.13:g.30634333C>T	(Likely) benign	1 lab	41b54bedb8
17:62019270 SCN4A C>A	17	62019270	62019270	C	A	SCN4A	c.4372G>T	NM_000334.4	NP_000325.4:p.(Val1458Phe)	NC_000017.10:g.62019270C>A	(Likely) pathogenic	1 lab	41b720375e
3:38988339 SCN11A C>A	3	38988339	38988339	C	A	SCN11A	c.327G>T	NM_001349253.2	NP_001336182.1:p.(Leu109Phe)	NC_000003.11:g.38988339C>A	VUS	1 lab	41ced32c82
20:61990874 CHRNA4 T>C	20	61990874	61990874	T	C	CHRNA4	c.228+26A>G	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61990874T>C	(Likely) benign	1 lab	064807da94
1:2343941 PEX10 T>C	1	2343941	2343941	T	C	PEX10	c.1A>G	NM_153818.1	NP_722540.1:p.(Met1?)	NC_000001.10:g.2343941T>C	(Likely) pathogenic	1 lab	41b93fb24c
7:121757003 AASS T>G	7	121757003	121757003	T	G	AASS	c.696A>C	NM_005763.3	NP_005754.2:p.(Gln232His)	NC_000007.13:g.121757003T>G	VUS	1 lab	41bf306990
11:89018113 TYR C>T	11	89018113	89018113	C	T	TYR	c.1357C>T	NM_000372.5	NP_000363.1:p.(Gln453Ter)	NC_000011.9:g.89018113C>T	(Likely) pathogenic	1 lab	41c0acdead
17:29665146 NF1 A>G	17	29665146	29665146	A	G	NF1	c.6808A>G	NM_001042492.2	NP_001035957.1:p.(Ile2270Val)	NC_000017.10:g.29665146A>G	VUS	1 lab	41c408baed
1:145415613 HJV C>G	1	145415613	145415613	C	G	HJV	c.432C>G	NM_213653.3	NP_998818.1:p.(Ala144=)	NC_000001.10:g.145415613C>G	(Likely) benign	1 lab	41c48cf086
6:129670462 LAMA2 G>A	6	129670462	129670462	G	A	LAMA2	c.4456G>A	NM_000426.4	NP_000417.3:p.(Ala1486Thr)	NC_000006.11:g.129670462G>A	(Likely) benign	1 lab	41c7682baa
2:112779029 MERTK G>A	2	112779029	112779029	G	A	MERTK	c.2220G>A	NM_006343.3	NP_006334.2:p.(Ala740=)	NC_000002.11:g.112779029G>A	(Likely) pathogenic	1 lab	41cb11cfcf
13:32914085 BRCA2 A>G	13	32914085	32914085	A	G	BRCA2	c.5593A>G	NM_000059.3	NP_000050.2:p.(Ile1865Val)	NC_000013.10:g.32914085A>G	(Likely) benign	1 lab	41cc633ef7
10:88469746 LDB3 C>T	10	88469746	88469746	C	T	LDB3	c.1170C>T	NM_007078.2	NP_009009.1:p.(Ala390=)	NC_000010.10:g.88469746C>T	VUS	1 lab	41cce3467f
2:179594438 TTN C>T	2	179594438	179594438	C	T	TTN	c.18542G>A	NM_001267550.2	NP_001254479.2:p.(Arg6181Gln)	NC_000002.11:g.179594438C>T	(Likely) benign	1 lab	41ceda45bd
7:100086150 NYAP1 C>G	7	100086150	100086150	C	G	NYAP1	c.806C>G	NM_173564.3	NP_775835.2:p.(Pro269Arg)	NC_000007.13:g.100086150C>G	VUS	1 lab	41d50e0c57
6:32006192 CYP21A2 G>A	6	32006192	32006192	G	A	CYP21A2	c.-8G>A	NM_000500.7	NP_000491.4:p.?	NC_000006.11:g.32006192G>A	(Likely) benign	1 lab	41d50e1c38
14:100743789 YY1 T>C	14	100743789	100743789	T	C	YY1	c.1097T>C	NM_003403.3	NP_003394.1:p.(Leu366Pro)	NC_000014.8:g.100743789T>C	(Likely) pathogenic	1 lab	41d5dfb1cc
2:48033773 MSH6 G>GATCA	2	48033773	48033774	G	GATCA	MSH6	c.3984_3985insATCA	NM_000179.2	NP_000170.1:p.(Ser1329IlefsTer13)	NC_000002.11:g.48033773_48033774insATCA	VUS	1 lab	064d4f3bb4
8:38272296 FGFR1 CGTTG>C	8	38272296	38272304	CGTTG	C	FGFR1	c.1974_1977del	NM_023110.3	NP_075598.2:p.(Asn659AlafsTer5)	NC_000008.10:g.38272301_38272304del	(Likely) pathogenic	1 lab	41d821b4a6
11:108192061 ATM C>T	11	108192061	108192061	C	T	ATM	c.6486C>T	NM_000051.4	NP_000042.3:p.(Ser2162=)	NC_000011.9:g.108192061C>T	(Likely) benign	1 lab	41db23058b
6:108243070 SEC63 G>C	6	108243070	108243070	G	C	SEC63	c.383C>G	NM_007214.4	NP_009145.1:p.(Ser128Ter)	NC_000006.11:g.108243070G>C	(Likely) pathogenic	1 lab	41dce44620
14:105185567 INF2 G>A	14	105185567	105185567	G	A	INF2	c.*437G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105185567G>A	(Likely) benign	1 lab	41df04f703
14:21876865 CHD8 G>A	14	21876865	21876865	G	A	CHD8	c.2484C>T	NM_001170629.2	NP_001164100.1:p.(Asn828=)	NC_000014.8:g.21876865G>A	VUS	1 lab	41e16654a2
12:49416417 KMT2D G>A	12	49416417	49416417	G	A	KMT2D	c.16294C>T	NM_003482.3	NP_003473.3:p.(Arg5432Trp)	NC_000012.11:g.49416417G>A	(Likely) pathogenic	1 lab	41e315139b
1:103478006 COL11A1 G>A	1	103478006	103478006	G	A	COL11A1	c.1592C>T	NM_001854.4	NP_001845.3:p.(Pro531Leu)	NC_000001.10:g.103478006G>A	VUS	1 lab	41e41b7f32
9:6534778 GLDC T>C	9	6534778	6534778	T	C	GLDC	c.2849A>G	NM_000170.2	NP_000161.2:p.(His950Arg)	NC_000009.11:g.6534778T>C	(Likely) pathogenic	1 lab	41e55a981d
19:6685152 C3 G>A	19	6685152	6685152	G	A	C3	c.3816C>T	NM_000064.4	NP_000055.2:p.(Thr1272=)	NC_000019.9:g.6685152G>A	(Likely) benign	1 lab	41e840bf77
2:170163816 LRP2 G>T	2	170163816	170163816	G	T	LRP2	c.402C>A	NM_004525.2	NP_004516.2:p.(Pro134=)	NC_000002.11:g.170163816G>T	(Likely) benign	1 lab	41e95479ca
X:43809179 NDP G>A	X	43809179	43809179	G	A	NDP	c.268C>T	NM_000266.4	NP_000257.1:p.(Arg90Cys)	NC_000023.10:g.43809179G>A	(Likely) pathogenic	1 lab	41ea129076
1:3102822 PRDM16 C>T	1	3102822	3102822	C	T	PRDM16	c.171C>T	NM_022114.3	NP_071397.3:p.(Ser57=)	NC_000001.10:g.3102822C>T	(Likely) benign	1 lab	41ea4c20ef
2:167262869 SCN7A T>C	2	167262869	167262869	T	C	SCN7A	c.4270A>G	NM_002976.3	NP_002967.2:p.(Met1424Val)	NC_000002.11:g.167262869T>C	(Likely) benign	1 lab	41ecaa01b8
7:150649751 KCNH2 G>A	7	150649751	150649751	G	A	KCNH2	c.1319C>T	NM_000238.3	NP_000229.1:p.(Pro440Leu)	NC_000007.13:g.150649751G>A	(Likely) benign	1 lab	41ee8cfdd1
11:36615403 RAG2 T>C	11	36615403	36615403	T	C	RAG2	c.316A>G	NM_001243785.1	NP_001230714.1:p.(Lys106Glu)	NC_000011.9:g.36615403T>C	(Likely) pathogenic	1 lab	41efee2603
13:32929303 BRCA2 A>T	13	32929303	32929303	A	T	BRCA2	c.7313A>T	NM_000059.3	NP_000050.2:p.(Asp2438Val)	NC_000013.10:g.32929303A>T	(Likely) benign	1 lab	41f00ac28b
1:216373412 USH2A T>C	1	216373412	216373412	T	C	USH2A	c.3368A>G	NM_206933.2	NP_996816.2:p.(Tyr1123Cys)	NC_000001.10:g.216373412T>C	VUS	1 lab	41f678a24e
7:91694738 AKAP9 A>T	7	91694738	91694738	A	T	AKAP9	c.6171A>T	NM_005751.4	NP_005742.4:p.(Ala2057=)	NC_000007.13:g.91694738A>T	(Likely) benign	1 lab	41f766f019
20:33588874 MYH7B G>A	20	33588874	33588874	G	A	MYH7B	c.5514G>A	NM_020884.4	NP_065935.3:p.(Thr1838=)	NC_000020.10:g.33588874G>A	(Likely) benign	1 lab	41fa4f4b31
19:39008284 RYR1 T>C	19	39008284	39008284	T	C	RYR1	c.9971T>C	NM_000540.2	NP_000531.2:p.(Val3324Ala)	NC_000019.9:g.39008284T>C	VUS	1 lab	41fd5cc0d5
22:33255338 TIMP3 A>T	22	33255338	33255338	A	T	TIMP3	c.610A>T	NM_000362.4	NP_000353.1:p.(Ser204Cys)	NC_000022.10:g.33255338A>T	VUS	1 lab	42004a58ba
14:23890203 MYH7 G>A	14	23890203	23890203	G	A	MYH7	c.3300C>T	NM_000257.4	NP_000248.2:p.(Leu1100=)	NC_000014.8:g.23890203G>A	(Likely) benign	1 lab	4201b5d1fb
10:89725304 PTEN T>A	10	89725304	89725304	T	A	PTEN	c.*75T>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89725304T>A	(Likely) benign	1 lab	42074a8988
20:62324583 RTEL1 C>T	20	62324583	62324583	C	T	RTEL1	c.3011C>T	NM_032957.4	NP_116575.3:p.(Pro1004Leu)	NC_000020.10:g.62324583C>T	VUS	1 lab	42076206de
3:9483882 SETD5 G>A	3	9483882	9483882	G	A	SETD5	c.1030G>A	NM_001080517.3	NP_001073986.1:p.(Gly344Ser)	NC_000003.11:g.9483882G>A	(Likely) pathogenic	1 lab	4207cac1be
6:7584045 DSP G>A	6	7584045	7584045	G	A	DSP	c.6550G>A	NM_004415.3	NP_004406.2:p.(Val2184Met)	NC_000006.11:g.7584045G>A	(Likely) benign	1 lab	4208e8f702
9:95481425 BICD2 C>G	9	95481425	95481425	C	G	BICD2	c.1502G>C	NM_001003800.1	NP_001003800.1:p.(Arg501Pro)	NC_000009.11:g.95481425C>G	(Likely) pathogenic	1 lab	4209223f20
10:135182452 ECHS1 C>T	10	135182452	135182452	C	T	ECHS1	c.489G>A	NM_004092.4	NP_004083.3:p.(Pro163=)	NC_000010.10:g.135182452C>T	(Likely) pathogenic	1 lab	420ad26aa2
15:38545387 SPRED1 A>T	15	38545387	38545387	A	T	SPRED1	c.1A>T	NM_152594.2	NP_689807.1:p.(Met1?)	NC_000015.9:g.38545387A>T	(Likely) pathogenic	1 lab	420bec2577
2:103119973 SLC9A4 A>G	2	103119973	103119973	A	G	SLC9A4	c.787A>G	NM_001011552.3	NP_001011552.2:p.(Ile263Val)	NC_000002.11:g.103119973A>G	(Likely) benign	1 lab	420c2dcfa6
2:179482107 TTN C>T	2	179482107	179482107	C	T	TTN	c.47705G>A	NM_001267550.2	NP_001254479.2:p.(Gly15902Glu)	NC_000002.11:g.179482107C>T	VUS	1 lab	420cda1b9e
17:33446653 RAD51D G>A	17	33446653	33446653	G	A	RAD51D	c.-21C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446653G>A	(Likely) benign	1 lab	420d67d9c8
16:67469915 HSD11B2 G>A	16	67469915	67469915	G	A	HSD11B2	c.534G>A	NM_000196.3	NP_000187.3:p.(Glu178=)	NC_000016.9:g.67469915G>A	(Likely) benign	1 lab	421314ae7a
14:23896875 MYH7 C>T	14	23896875	23896875	C	T	MYH7	c.1807G>A	NM_000257.2	NP_000248.2:p.(Glu603Lys)	NC_000014.8:g.23896875C>T	VUS	1 lab	42138051db
12:6127750 VWF C>G	12	6127750	6127750	C	G	VWF	c.4834G>C	NM_000552.5	NP_000543.3:p.(Ala1612Pro)	NC_000012.11:g.6127750C>G	VUS	1 lab	4214bfa71b
2:32352087 SPAST T>G	2	32352087	32352087	T	G	SPAST	c.1169T>G	NM_014946.3	NP_055761.2:p.(Met390Arg)	NC_000002.11:g.32352087T>G	(Likely) pathogenic	1 lab	42155233a2
16:89346184 ANKRD11 G>A	16	89346184	89346184	G	A	ANKRD11	c.6766C>T	NM_001256182.1	NP_001243111.1:p.(Gln2256Ter)	NC_000016.9:g.89346184G>A	(Likely) pathogenic	1 lab	4215cd02ae
13:100635175 ZIC2 A>G	13	100635175	100635175	A	G	ZIC2	c.857A>G	NM_007129.3	NP_009060.2:p.(His286Arg)	NC_000013.10:g.100635175A>G	(Likely) pathogenic	1 lab	42169a41fe
14:29237105 FOXG1 T>G	14	29237105	29237105	T	G	FOXG1				NC_000014.8:g.29237105T>G	(Likely) pathogenic	1 lab	4218257a2c
3:193364872 OPA1 A>C	3	193364872	193364872	A	C	OPA1	c.1773A>C	NM_130837.2	NP_570850.2:p.(Ala591=)	NC_000003.11:g.193364872A>C	(Likely) benign	1 lab	421a1d0613
10:15714612 ITGA8 A>G	10	15714612	15714612	A	G	ITGA8	c.802+11T>C	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15714612A>G	(Likely) benign	1 lab	065964807c
2:228104760 COL4A3 C>T	2	228104760	228104760	C	T	COL4A3	c.145-99C>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228104760C>T	(Likely) benign	1 lab	4227436d76
22:50304127 ALG12 A>G	22	50304127	50304127	A	G	ALG12	c.424T>C	NM_024105.3	NP_077010.1:p.(Phe142Leu)	NC_000022.10:g.50304127A>G	(Likely) pathogenic	1 lab	422895f0e6
6:129634181 LAMA2 C>T	6	129634181	129634181	C	T	LAMA2	c.3350C>T	NM_000426.3	NP_000417.2:p.(Thr1117Ile)	NC_000006.11:g.129634181C>T	VUS	1 lab	42298781f0
6:132198188 ENPP1 C>T	6	132198188	132198188	C	T	ENPP1	c.1780C>T	NM_006208.2	NP_006199.2:p.(Leu594Phe)	NC_000006.11:g.132198188C>T	VUS	1 lab	422e517d88
12:49440141 KMT2D G>T	12	49440141	49440141	G	T	KMT2D	c.4485C>A	NM_003482.3	NP_003473.3:p.(Tyr1495Ter)	NC_000012.11:g.49440141G>T	(Likely) pathogenic	1 lab	4231f17226
10:131565170 MGMT A>G	10	131565170	131565170	A	G	MGMT	c.626A>G	NM_002412.4	NP_002403.2:p.(Lys209Arg)	NC_000010.10:g.131565170A>G	VUS	1 lab	4234a52026
12:2711016 CACNA1C G>A	12	2711016	2711016	G	A	CACNA1C	c.2854-4G>A	NM_000719.6	NP_000710.5:p.?	NC_000012.11:g.2711016G>A	(Likely) benign	1 lab	423584f5ff
2:25467433 DNMT3A A>G	2	25467433	25467433	A	G	DNMT3A	c.1643T>C	NM_022552.4	NP_072046.2:p.(Met548Thr)	NC_000002.11:g.25467433A>G	(Likely) pathogenic	1 lab	4237cc3474
1:237519272 RYR2 A>T	1	237519272	237519272	A	T	RYR2	c.281A>T	NM_001035.2	NP_001026.2:p.(Asp94Val)	NC_000001.10:g.237519272A>T	VUS	1 lab	42393687e8
2:215798851 ABCA12 G>A	2	215798851	215798851	G	A	ABCA12	c.7631C>T	NM_173076.2	NP_775099.2:p.(Thr2544Ile)	NC_000002.11:g.215798851G>A	(Likely) benign	1 lab	423be73faa
2:166848712 SCN1A G>T	2	166848712	166848712	G	T	SCN1A	c.5073C>A	NM_001165963.1	NP_001159435.1:p.(Asn1691Lys)	NC_000002.11:g.166848712G>T	VUS	1 lab	423c261606
9:131389698 SPTAN1 C>T	9	131389698	131389698	C	T	SPTAN1	c.6610C>T	NM_001130438.2	NP_001123910.1:p.(Arg2204Trp)	NC_000009.11:g.131389698C>T	(Likely) pathogenic	1 lab	423ebd7fe7
8:55541967 RP1 G>C	8	55541967	55541967	G	C	RP1	c.5525G>C	NM_006269.1	NP_006260.1:p.(Cys1842Ser)	NC_000008.10:g.55541967G>C	VUS	1 lab	424963bd92
1:215822111 USH2A G>C	1	215822111	215822111	G	C	USH2A	c.14344-3C>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215822111G>C	VUS	1 lab	424eb8ee65
14:77919702 VIPAS39 C>T	14	77919702	77919702	C	T	VIPAS39	c.136G>A	NM_022067.4	NP_071350.2:p.(Val46Met)	NC_000014.8:g.77919702C>T	(Likely) benign	1 lab	066071deee
6:76596713 MYO6 T>A	6	76596713	76596713	T	A	MYO6	c.2658+2T>A	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76596713T>A	(Likely) pathogenic	1 lab	4253a02f00
4:997857 IDUA C>A	4	997857	997857	C	A	IDUA	c.1785C>A	NM_000203.4	NP_000194.2:p.(Val595=)	NC_000004.11:g.997857C>A	(Likely) benign	1 lab	4255b6d884
9:130224641 LRSAM1 C>T	9	130224641	130224641	C	T	LRSAM1	c.517C>T	NM_138361.5	NP_612370.3:p.(Arg173Ter)	NC_000009.11:g.130224641C>T	VUS	1 lab	425a509699
1:196881917 CFHR4 G>A	1	196881917	196881917	G	A	CFHR4	c.1045G>A	NM_001201550.3	NP_001188479.1:p.(Glu349Lys)	NC_000001.10:g.196881917G>A	(Likely) benign	1 lab	425c1ba9a8
9:104198191 ALDOB A>T	9	104198191	104198191	A	T	ALDOB				NC_000009.11:g.104198191A>T	(Likely) benign	1 lab	425e7bc708
X:54492218 FGD1 A>G	X	54492218	54492218	A	G	FGD1	c.1408T>C	NM_004463.3	NP_004454.2:p.(Tyr470His)	NC_000023.10:g.54492218A>G	VUS	1 lab	425f2d9429
19:39006854 RYR1 G>A	19	39006854	39006854	G	A	RYR1	c.9682G>A	NM_000540.3	NP_000531.2:p.(Ala3228Thr)	NC_000019.9:g.39006854G>A	VUS	1 lab	425f9fe62f
1:229568127 ACTA1 T>C	1	229568127	229568127	T	C	ACTA1	c.506A>G	NM_001100.3	NP_001091.1:p.(Glu169Gly)	NC_000001.10:g.229568127T>C	(Likely) pathogenic	1 lab	4261924ee9
11:128737188 KCNJ1 A>G	11	128737188	128737188	A	G	KCNJ1	c.-445T>C	NM_153767.2	NP_722451.1:p.?	NC_000011.9:g.128737188A>G	(Likely) benign	1 lab	42629f7cc7
1:226108915 PYCR2 G>A	1	226108915	226108915	G	A	PYCR2	c.790C>T	NM_013328.3	NP_037460.2:p.(Arg264Ter)	NC_000001.10:g.226108915G>A	(Likely) pathogenic	1 lab	426391065f
13:32971207 BRCA2 A>G	13	32971207	32971207	A	G	BRCA2	c.9648+26A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971207A>G	(Likely) benign	1 lab	426457e513
11:108198374 ATM C>T	11	108198374	108198374	C	T	ATM	c.6978C>T	NM_000051.4	NP_000042.3:p.(Asn2326=)	NC_000011.9:g.108198374C>T	(Likely) benign	1 lab	426483cdc2
1:241669405 FH T>C	1	241669405	241669405	T	C	FH	c.802A>G	NM_000143.3	NP_000134.2:p.(Arg268Gly)	NC_000001.10:g.241669405T>C	(Likely) benign	1 lab	426574dee1
2:20196928 MATN3 A>T	2	20196928	20196928	A	T	MATN3	c.1261T>A	NM_002381.4	NP_002372.1:p.(Tyr421Asn)	NC_000002.11:g.20196928A>T	VUS	1 lab	4267adac2f
1:169529899 F5 G>A	1	169529899	169529899	G	A	F5	c.479C>T	NM_000130.5	NP_000121.2:p.(Pro160Leu)	NC_000001.10:g.169529899G>A	VUS	1 lab	426b60a629
10:102568885 PAX2 C>T	10	102568885	102568885	C	T	PAX2	c.880C>T	NM_003987.5	NP_003978.3:p.(Pro294Ser)	NC_000010.10:g.102568885C>T	(Likely) benign	1 lab	426c7c1a6f
2:145182370 ZEB2 A>G	2	145182370	145182370	A	G	ZEB2	c.396T>C	NM_014795.4	NP_055610.1:p.(Asn132=)	NC_000002.11:g.145182370A>G	(Likely) benign	1 lab	066ba2f7a5
12:14019157 GRIN2B C>T	12	14019157	14019157	C	T	GRIN2B	c.-15G>A	NM_000834.3	NP_000825.2:p.?	NC_000012.11:g.14019157C>T	(Likely) benign	1 lab	427067f423
13:32910586 BRCA2 A>G	13	32910586	32910586	A	G	BRCA2	c.2094A>G	NM_000059.4	NP_000050.3:p.(Leu698=)	NC_000013.10:g.32910586A>G	(Likely) benign	1 lab	4271ed9954
9:106864723 SMC2 C>T	9	106864723	106864723	C	T	SMC2	c.889C>T	NM_006444.2	NP_006435.2:p.(Arg297Ter)	NC_000009.11:g.106864723C>T	VUS	1 lab	4272f835a9
20:32031207 SNTA1 G>A	20	32031207	32031207	G	A	SNTA1	c.220C>T	NM_003098.2	NP_003089.1:p.(Pro74Ser)	NC_000020.10:g.32031207G>A	(Likely) benign	1 lab	42739defc0
1:247592999 NLRP3 G>C	1	247592999	247592999	G	C	NLRP3	c.2263G>C	NM_001243133.2	NP_001230062.1:p.(Gly755Arg)	NC_000001.10:g.247592999G>C	(Likely) pathogenic	1 lab	0670aae4d9
2:227920814 COL4A4 C>T	2	227920814	227920814	C	T	COL4A4	c.2563G>A	NM_000092.4	NP_000083.3:p.(Gly855Arg)	NC_000002.11:g.227920814C>T	VUS	1 lab	4275b4dc65
1:201341173 TNNT2 C>T	1	201341173	201341173	C	T	TNNT2	c.53-4G>A	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201341173C>T	(Likely) benign	1 lab	4277da57a7
1:160105036 ATP1A2 G>A	1	160105036	160105036	G	A	ATP1A2	c.2066G>A	NM_000702.4	NP_000693.1:p.(Arg689Gln)	NC_000001.10:g.160105036G>A	(Likely) pathogenic	1 lab	4278ed1eb7
1:76194054 ACADM C>G	1	76194054	76194054	C	G	ACADM	c.31-20C>G	NM_001127328.1	NP_001120800.1:p.?	NC_000001.10:g.76194054C>G	(Likely) benign	1 lab	427d7dd11d
12:80889094 MISSING T>C	12	80889094	80889094	T	C	MISSING				NC_000012.11:g.80889094T>C	VUS	1 lab	427dbbd0cb
18:52927221 TCF4 G>C	18	52927221	52927221	G	C	TCF4	c.1028C>G	NM_001083962.1	NP_001077431.1:p.(Ser343Ter)	NC_000018.9:g.52927221G>C	(Likely) pathogenic	1 lab	42828397b5
X:136651111 ZIC3 A>C	X	136651111	136651111	A	C	ZIC3	c.1111A>C	NM_003413.3	NP_003404.1:p.(Asn371His)	NC_000023.10:g.136651111A>C	(Likely) pathogenic	1 lab	428374e144
7:128480135 FLNC C>A	7	128480135	128480135	C	A	FLNC	c.1470C>A	NM_001458.4	NP_001449.3:p.(Arg490=)	NC_000007.13:g.128480135C>A	(Likely) benign	1 lab	4289a477cf
12:110029106 MVK C>G	12	110029106	110029106	C	G	MVK	c.829C>G	NM_000431.2	NP_000422.1:p.(Arg277Gly)	NC_000012.11:g.110029106C>G	(Likely) pathogenic	1 lab	06744b4a3b
17:7811277 CHD3 C>T	17	7811277	7811277	C	T	CHD3	c.5092C>T	NM_001005273.3	NP_001005273.1:p.(Arg1698Ter)	NC_000017.10:g.7811277C>T	(Likely) pathogenic	1 lab	4291d337ae
13:32906902 BRCA2 A>C	13	32906902	32906902	A	C	BRCA2	c.1287A>C	NM_000059.3	NP_000050.2:p.(Leu429Phe)	NC_000013.10:g.32906902A>C	(Likely) benign	1 lab	429318c5fd
4:55599321 KIT A>T	4	55599321	55599321	A	T	KIT	c.2447A>T	NM_000222.3	NP_000213.1:p.(Asp816Val)	NC_000004.11:g.55599321A>T	(Likely) pathogenic	1 lab	4294f4ef47
1:41285859 KCNQ4 C>T	1	41285859	41285859	C	T	KCNQ4	c.968C>T	NM_004700.3	NP_004691.2:p.(Ala323Val)	NC_000001.10:g.41285859C>T	VUS	1 lab	4294f88056
19:18979976 GDF1 G>A	19	18979976	18979976	G	A	GDF1	c.549C>T	NM_001492.5	NP_001483.3:p.(Leu183=)	NC_000019.9:g.18979976G>A	(Likely) benign	1 lab	429b694fcb
X:73961685 NEXMIF C>A	X	73961685	73961685	C	A	NEXMIF	c.2707G>T	NM_001008537.2	NP_001008537.1:p.(Glu903Ter)	NC_000023.10:g.73961685C>A	(Likely) pathogenic	1 lab	42a160603f
1:216595678 USH2A T>C	1	216595678	216595678	T	C	USH2A	c.1A>G	NM_206933.2	NP_996816.2:p.(Met1?)	NC_000001.10:g.216595678T>C	VUS	1 lab	42a256f9be
3:193353273 OPA1 C>T	3	193353273	193353273	C	T	OPA1	c.910C>T	NM_130837.2	NP_570850.2:p.(Gln304Ter)	NC_000003.11:g.193353273C>T	(Likely) pathogenic	1 lab	42a6b5132f
3:37050383 MLH1 G>T	3	37050383	37050383	G	T	MLH1	c.532G>T	NM_000249.3	NP_000240.1:p.(Glu178Ter)	NC_000003.11:g.37050383G>T	(Likely) pathogenic	1 lab	42a7bff6c9
1:216465516 USH2A C>A	1	216465516	216465516	C	A	USH2A	c.1840+1G>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216465516C>A	(Likely) pathogenic	1 lab	42ac804d5d
7:151292411 PRKAG2 T>C	7	151292411	151292411	T	C	PRKAG2	c.864+20A>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151292411T>C	(Likely) benign	1 lab	42ad414c5a
19:55667626 TNNI3 A>C	19	55667626	55667626	A	C	TNNI3	c.225T>G	NM_000363.5	NP_000354.4:p.(Ala75=)	NC_000019.9:g.55667626A>C	VUS	1 lab	42afbda8e4
X:107935972 COL4A5 T>C	X	107935972	107935972	T	C	COL4A5	c.4529-6T>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107935972T>C	(Likely) benign	1 lab	42b11a9304
X:152991014 ABCD1 C>G	X	152991014	152991014	C	G	ABCD1	c.293C>G	NM_000033.3	NP_000024.2:p.(Ser98Trp)	NC_000023.10:g.152991014C>G	(Likely) pathogenic	1 lab	42bfe9e408
8:61741367 CHD7 T>C	8	61741367	61741367	T	C	CHD7				NC_000008.10:g.61741367T>C	(Likely) pathogenic	1 lab	4780bd47c4
13:23912513 SACS C>G	13	23912513	23912513	C	G	SACS	c.5502G>C	NM_014363.5	NP_055178.3:p.(Leu1834=)	NC_000013.10:g.23912513C>G	(Likely) benign	1 lab	42c4592e2c
14:68282750 ZFYVE26 T>A	14	68282750	68282750	T	A	ZFYVE26	c.-70A>T	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68282750T>A	(Likely) benign	1 lab	42c74111db
5:112136985 APC C>T	5	112136985	112136985	C	T	APC	c.739C>T	NM_000038.6	NP_000029.2:p.(Gln247Ter)	NC_000005.9:g.112136985C>T	(Likely) pathogenic	1 lab	42c8a55fea
12:81064145 MISSING G>A	12	81064145	81064145	G	A	MISSING				NC_000012.11:g.81064145G>A	VUS	1 lab	42c9494712
X:47086026 CDK16 G>T	X	47086026	47086026	G	T	CDK16	c.961G>T	NM_006201.4	NP_006192.1:p.(Glu321Ter)	NC_000023.10:g.47086026G>T	VUS	1 lab	42c9f305f4
3:48622187 COL7A1 G>A	3	48622187	48622187	G	A	COL7A1	c.4027C>T	NM_000094.3	NP_000085.1:p.(Arg1343Ter)	NC_000003.11:g.48622187G>A	(Likely) pathogenic	1 lab	42cadf5b45
9:101552614 ANKS6 C>T	9	101552614	101552614	C	T	ANKS6	c.634G>A	NM_173551.3	NP_775822.3:p.(Glu212Lys)	NC_000009.11:g.101552614C>T	VUS	1 lab	42cb32fb00
12:6204730 VWF A>G	12	6204730	6204730	A	G	VWF	c.553T>C	NM_000552.3	NP_000543.2:p.(Tyr185His)	NC_000012.11:g.6204730A>G	VUS	1 lab	42cb652071
X:107683367 COL4A5 T>G	X	107683367	107683367	T	G	COL4A5	c.12T>G	NM_033380.3	NP_203699.1:p.(Arg4=)	NC_000023.10:g.107683367T>G	(Likely) benign	1 lab	42d0054c9c
15:90176170 KIF7 G>A	15	90176170	90176170	G	A	KIF7	c.2776C>T	NM_198525.2	NP_940927.2:p.(Arg926Trp)	NC_000015.9:g.90176170G>A	VUS	1 lab	42d993775f
X:32486634 DMD T>C	X	32486634	32486634	T	C	DMD	c.3143A>G	NM_004006.2	NP_003997.1:p.(Asn1048Ser)	NC_000023.10:g.32486634T>C	VUS	1 lab	067ca5d414
15:89415281 ACAN G>A	15	89415281	89415281	G	A	ACAN	c.7267G>A	NM_001369268.1	NP_001356197.1:p.(Glu2423Lys)	NC_000015.9:g.89415281G>A	VUS	1 lab	42dd4e58a7
3:52181052 POC1A C>T	3	52181052	52181052	C	T	POC1A	c.401G>A	NM_001161581.2	NP_001155053.1:p.(Trp134Ter)	NC_000003.11:g.52181052C>T	(Likely) pathogenic	1 lab	067e179451
1:31418242 PUM1 C>T	1	31418242	31418242	C	T	PUM1	c.2945G>A	NM_001020658.2	NP_001018494.1:p.(Cys982Tyr)	NC_000001.10:g.31418242C>T	VUS	1 lab	42e9971f8d
11:31828474 PAX6 CT>C	11	31828474	31828475	CT	C	PAX6	c.-135-2del	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31828475del	(Likely) pathogenic	1 lab	42ecb6985e
11:68213912 LRP5 C>G	11	68213912	68213912	C	G	LRP5	c.4497C>G	NM_002335.2	NP_002326.2:p.(Asn1499Lys)	NC_000011.9:g.68213912C>G	VUS	1 lab	42f098bcec
6:7585706 DSP T>G	6	7585706	7585706	T	G	DSP	c.8211T>G	NM_004415.3	NP_004406.2:p.(Val2737=)	NC_000006.11:g.7585706T>G	(Likely) benign	1 lab	42f3d35965
11:103057020 DYNC2H1 A>G	11	103057020	103057020	A	G	DYNC2H1	c.6683A>G	NM_001080463.1	NP_001073932.1:p.(Asp2228Gly)	NC_000011.9:g.103057020A>G	VUS	1 lab	42fabae609
3:70005639 MITF G>T	3	70005639	70005639	G	T	MITF	c.668G>T	NM_000248.3	NP_000239.1:p.(Arg223Leu)	NC_000003.11:g.70005639G>T	(Likely) pathogenic	1 lab	42fb7b91a9
1:228547800 OBSCN G>A	1	228547800	228547800	G	A	OBSCN	c.19207G>A	NM_052843.3	NP_443075.3:p.(Asp6403Asn)	NC_000001.10:g.228547800G>A	(Likely) benign	1 lab	42fc52610b
17:76122351 TMC6 C>T	17	76122351	76122351	C	T	TMC6	c.271+7G>A	NM_007267.6	NP_009198.4:p.?	NC_000017.10:g.76122351C>T	(Likely) benign	1 lab	067e91aaf1
22:38161844 TRIOBP C>G	22	38161844	38161844	C	G	TRIOBP	c.6472+20C>G	NM_001039141.2	NP_001034230.1:p.?	NC_000022.10:g.38161844C>G	(Likely) benign	1 lab	43000992d0
2:31754395 SRD5A2 C>T	2	31754395	31754395	C	T	SRD5A2	c.680G>A	NM_000348.4	NP_000339.2:p.(Arg227Gln)	NC_000002.11:g.31754395C>T	(Likely) pathogenic	1 lab	43001a8dbe
2:179418930 TTN T>C	2	179418930	179418930	T	C	TTN	c.88908A>G	NM_001267550.2	NP_001254479.2:p.(Pro29636=)	NC_000002.11:g.179418930T>C	(Likely) benign	1 lab	4301a0692b
X:100601543 TIMM8A G>A	X	100601543	100601543	G	A	TIMM8A	c.238C>T	NM_004085.3	NP_004076.1:p.(Arg80Ter)	NC_000023.10:g.100601543G>A	(Likely) pathogenic	1 lab	43024e21c0
1:6171847 CHD5 G>A	1	6171847	6171847	G	A	CHD5	c.5237C>T	NM_015557.3	NP_056372.1:p.(Ala1746Val)	NC_000001.10:g.6171847G>A	VUS	1 lab	430304f0ae
2:227946893 COL4A4 C>G	2	227946893	227946893	C	G	COL4A4	c.1634G>C	NM_000092.4	NP_000083.3:p.(Gly545Ala)	NC_000002.11:g.227946893C>G	VUS	1 lab	4307f27340
1:160100028 ATP1A2 A>T	1	160100028	160100028	A	T	ATP1A2	c.1598A>T	NM_000702.3	NP_000693.1:p.(Asp533Val)	NC_000001.10:g.160100028A>T	(Likely) benign	1 lab	43081d2ef3
1:156084782 LMNA C>T	1	156084782	156084782	C	T	LMNA	c.73C>T	NM_170707.3	NP_733821.1:p.(Arg25Cys)	NC_000001.10:g.156084782C>T	VUS	1 lab	4308ff8568
X:153217119 HCFC1 A>C	X	153217119	153217119	A	C	HCFC1				NC_000023.10:g.153217119A>C	(Likely) benign	1 lab	47c8b0d716
5:112175687 APC G>T	5	112175687	112175687	G	T	APC	c.4396G>T	NM_000038.6	NP_000029.2:p.(Gly1466Ter)	NC_000005.9:g.112175687G>T	(Likely) pathogenic	1 lab	430d2e008a
1:236850036 ACTN2 C>T	1	236850036	236850036	C	T	ACTN2	c.63C>T	NM_001103.3	NP_001094.1:p.(Ile21=)	NC_000001.10:g.236850036C>T	(Likely) benign	1 lab	431031ef1c
1:156562143 NAXE G>A	1	156562143	156562143	G	A	NAXE	c.292-14G>A	NM_144772.2	NP_658985.2:p.?	NC_000001.10:g.156562143G>A	(Likely) benign	1 lab	43159af8fe
1:11190683 MTOR G>A	1	11190683	11190683	G	A	MTOR				NC_000001.10:g.11190683G>A	(Likely) benign	1 lab	4316a9ac48
14:23853739 MYH6 CC>TT	14	23853739	23853740	CC	TT	MYH6	c.5476_5477delinsAA	NM_002471.3	NP_002462.2:p.(Gly1826Asn)	NC_000014.8:g.23853739_23853740delinsTT	(Likely) benign	1 lab	4316f96f0b
2:167262799 SCN7A T>G	2	167262799	167262799	T	G	SCN7A	c.4340A>C	NM_002976.4	NP_002967.2:p.(Lys1447Thr)	NC_000002.11:g.167262799T>G	(Likely) benign	1 lab	431814501f
10:86007463 RGR A>C	10	86007463	86007463	A	C	RGR	c.196A>C	NM_002921.3	NP_002912.2:p.(Ser66Arg)	NC_000010.10:g.86007463A>C	VUS	1 lab	431a5cb0f2
10:56287569 PCDH15 T>C	10	56287569	56287569	T	C	PCDH15	c.157+3A>G	NM_033056.3	NP_149045.3:p.?	NC_000010.10:g.56287569T>C	(Likely) benign	1 lab	431b9d7c50
6:32798375 TAP2 T>C	6	32798375	32798375	T	C	TAP2	c.1461+20A>G	NM_000544.3	NP_000535.3:p.?	NC_000006.11:g.32798375T>C	(Likely) benign	1 lab	067f72e18d
8:126091090 WASHC5 C>T	8	126091090	126091090	C	T	WASHC5	c.601G>A	NM_014846.4	NP_055661.3:p.(Ala201Thr)	NC_000008.10:g.126091090C>T	VUS	1 lab	431be93406
2:230643601 TRIP12 TGCTAA>T	2	230643601	230643607	TGCTAA	T	TRIP12	c.5198_5202del	NM_001348328.1	NP_001335257.1:p.(Leu1733GlnfsTer25)	NC_000002.11:g.230643603_230643607del	(Likely) pathogenic	1 lab	431c51b934
11:118377224 KMT2A CA>C	11	118377224	118377227	CA	C	KMT2A	c.10620del	NM_001197104.1	NP_001184033.1:p.(Lys3540AsnfsTer11)	NC_000011.9:g.118377227del	(Likely) pathogenic	1 lab	431e2e7257
22:30077438 NF2 A>G	22	30077438	30077438	A	G	NF2	c.1585A>G	NM_000268.3	NP_000259.1:p.(Met529Val)	NC_000022.10:g.30077438A>G	VUS	1 lab	431fca6c65
6:38790793 DNAH8 C>T	6	38790793	38790793	C	T	DNAH8	c.3703C>T	NM_001206927.2	NP_001193856.1:p.(Arg1235Cys)	NC_000006.11:g.38790793C>T	VUS	1 lab	4320144904
X:110644479 DCX GACAGACC>G	X	110644479	110644487	GACAGACC	G	DCX	c.437_443del	NM_001195553.2	NP_001182482.1:p.(Trp146SerfsTer3)	NC_000023.10:g.110644481_110644487del	(Likely) pathogenic	1 lab	43216b45fe
X:44919356 KDM6A C>T	X	44919356	44919356	C	T	KDM6A	c.1284C>T	NM_001291415.1	NP_001278344.1:p.(Pro428=)	NC_000023.10:g.44919356C>T	(Likely) benign	1 lab	0680761f8c
11:17656415 OTOG GTCTCGCC>G	11	17656415	17656422	GTCTCGCC	G	OTOG	c.7542_7548del	NM_001277269.1	NP_001264198.1:p.(Leu2515ProfsTer45)	NC_000011.9:g.17656416_17656422del	(Likely) pathogenic	1 lab	4323e57eb2
1:228521489 OBSCN C>T	1	228521489	228521489	C	T	OBSCN	c.18925+8C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228521489C>T	(Likely) benign	1 lab	43298599b1
17:29684113 NF1 G>C	17	29684113	29684113	G	C	NF1	c.7869+5G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29684113G>C	(Likely) pathogenic	1 lab	432a0b487f
2:219754978 WNT10A G>A	2	219754978	219754978	G	A	WNT10A	c.649G>A	NM_025216.2	NP_079492.2:p.(Asp217Asn)	NC_000002.11:g.219754978G>A	VUS	1 lab	432bade1c6
10:96006340 PLCE1 C>T	10	96006340	96006340	C	T	PLCE1	c.3058C>T	NM_016341.3	NP_057425.3:p.(Gln1020Ter)	NC_000010.10:g.96006340C>T	(Likely) pathogenic	1 lab	432beacbce
X:153247799 TMEM187 T>C	X	153247799	153247799	T	C	TMEM187	c.286T>C	NM_003492.2	NP_003483.1:p.(Tyr96His)	NC_000023.10:g.153247799T>C	VUS	1 lab	432e42dad5
10:79745905 POLR3A A>AT	10	79745905	79745912	A	AT	POLR3A	c.2913dup	NM_007055.3	NP_008986.2:p.(Phe972IlefsTer3)	NC_000010.10:g.79745912dup	(Likely) pathogenic	1 lab	432e8f30f1
6:47446000 CD2AP G>A	6	47446000	47446000	G	A	CD2AP	c.4+16G>A	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47446000G>A	(Likely) benign	1 lab	068668057f
17:9489260 CFAP52 T>C	17	9489260	9489260	T	C	CFAP52	c.241T>C	NM_145054.5	NP_659491.4:p.(Ser81Pro)	NC_000017.10:g.9489260T>C	VUS	1 lab	4338e95f45
2:73659373 ALMS1 G>A	2	73659373	73659373	G	A	ALMS1	c.1389G>A	NM_015120.4	NP_055935.4:p.(Arg463=)	NC_000002.11:g.73659373G>A	VUS	1 lab	433b7d4b2c
15:93536164 CHD2 C>G	15	93536164	93536164	C	G	CHD2				NC_000015.9:g.93536164C>G	(Likely) benign	1 lab	433ebb2667
5:112154992 APC G>A	5	112154992	112154992	G	A	APC	c.1263G>A	NM_000038.5	NP_000029.2:p.(Trp421Ter)	NC_000005.9:g.112154992G>A	(Likely) pathogenic	1 lab	4340394fa4
1:237957193 RYR2 A>G	1	237957193	237957193	A	G	RYR2	c.13809A>G	NM_001035.2	NP_001026.2:p.(Glu4603=)	NC_000001.10:g.237957193A>G	(Likely) benign	1 lab	434727035d
9:138657477 KCNT1 A>G	9	138657477	138657477	A	G	KCNT1	c.1208A>G	NM_020822.2	NP_065873.2:p.(Tyr403Cys)	NC_000009.11:g.138657477A>G	(Likely) pathogenic	1 lab	43486a9d7d
19:49303237 BCAT2 C>T	19	49303237	49303237	C	T	BCAT2	c.531+1G>A	NM_001190.4	NP_001181.2:p.?	NC_000019.9:g.49303237C>T	(Likely) pathogenic	1 lab	4348e35dcd
6:129766847 LAMA2 C>T	6	129766847	129766847	C	T	LAMA2	c.6310C>T	NM_000426.3	NP_000417.2:p.(Gln2104Ter)	NC_000006.11:g.129766847C>T	(Likely) pathogenic	1 lab	434b0150ed
1:181701830 CACNA1E C>T	1	181701830	181701830	C	T	CACNA1E	c.2608C>T	NM_001205293.1	NP_001192222.1:p.(Gln870Ter)	NC_000001.10:g.181701830C>T	(Likely) pathogenic	1 lab	434d04dc6b
10:70209846 DNA2 T>A	10	70209846	70209846	T	A	DNA2	c.878A>T	NM_001080449.2	NP_001073918.2:p.(Lys293Met)	NC_000010.10:g.70209846T>A	VUS	1 lab	434e7ce68f
2:39281927 SOS1 A>G	2	39281927	39281927	A	G	SOS1	c.548T>C	NM_005633.4	NP_005624.2:p.(Ile183Thr)	NC_000002.11:g.39281927A>G	VUS	1 lab	4354d75818
17:40843515 CNTNAP1 G>A	17	40843515	40843515	G	A	CNTNAP1	c.2330G>A	NM_003632.3	NP_003623.1:p.(Arg777His)	NC_000017.10:g.40843515G>A	VUS	1 lab	4356274a94
5:142661471 NR3C1 GAAGTTTTTT>G	5	142661471	142661480	GAAGTTTTTT	G	NR3C1	c.2308_2316del	NM_000176.2	NP_000167.1:p.(Lys770_Leu772del)	NC_000005.9:g.142661472_142661480del	(Likely) benign	1 lab	43570f1e70
14:61115592 SIX1 C>T	14	61115592	61115592	C	T	SIX1	c.316G>A	NM_005982.3	NP_005973.1:p.(Val106Met)	NC_000014.8:g.61115592C>T	(Likely) pathogenic	1 lab	435855d365
2:47702269 MSH2 C>T	2	47702269	47702269	C	T	MSH2	c.1865C>T	NM_000251.2	NP_000242.1:p.(Pro622Leu)	NC_000002.11:g.47702269C>T	(Likely) pathogenic	1 lab	4358c52c08
2:158594124 ACVR1 G>A	2	158594124	158594124	G	A	ACVR1	c.1449C>T	NM_001105.4	NP_001096.1:p.(Ser483=)	NC_000002.11:g.158594124G>A	(Likely) benign	1 lab	435caf4177
4:2829315 SH3BP2 C>A	4	2829315	2829315	C	A	SH3BP2	c.602-18C>A	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2829315C>A	(Likely) benign	1 lab	068c5b9af5
11:47372101 MYBPC3 C>A	11	47372101	47372101	C	A	MYBPC3	c.358G>T	NM_000256.3	NP_000247.2:p.(Ala120Ser)	NC_000011.9:g.47372101C>A	(Likely) benign	1 lab	4365a30eca
X:43603025 MAOA C>G	X	43603025	43603025	C	G	MAOA				NC_000023.10:g.43603025C>G	(Likely) benign	1 lab	4367369c85
1:152276772 FLG C>A	1	152276772	152276772	C	A	FLG	c.10590G>T	NM_002016.1	NP_002007.1:p.(Arg3530Ser)	NC_000001.10:g.152276772C>A	(Likely) benign	1 lab	437462f8ab
15:43905038 STRC G>A	15	43905038	43905038	G	A	STRC	c.2734C>T	NM_153700.2	NP_714544.1:p.(Arg912Cys)	NC_000015.9:g.43905038G>A	VUS	1 lab	437aadc23e
2:223161935 PAX3 G>C	2	223161935	223161935	G	C	PAX3	c.86-3C>G	NM_181457.3	NP_852122.1:p.?	NC_000002.11:g.223161935G>C	(Likely) pathogenic	1 lab	437dc6be1f
3:46900051 MYL3 G>A	3	46900051	46900051	G	A	MYL3	c.482-100C>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46900051G>A	(Likely) benign	1 lab	437e2bd30f
8:74893419 TMEM70 C>G	8	74893419	74893419	C	G	TMEM70	c.346C>G	NM_017866.6	NP_060336.3:p.(Leu116Val)	NC_000008.10:g.74893419C>G	(Likely) benign	1 lab	068c6c195d
8:106331210 ZFPM2 G>A	8	106331210	106331210	G	A	ZFPM2	c.40+1G>A	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106331210G>A	VUS	1 lab	4381f88061
10:131638542 EBF3 A>G	10	131638542	131638542	A	G	EBF3	c.1591T>C	NM_001005463.2	NP_001005463.1:p.(Ser531Pro)	NC_000010.10:g.131638542A>G	VUS	1 lab	438286a6a3
7:107312612 SLC26A4 C>T	7	107312612	107312612	C	T	SLC26A4	c.334C>T	NM_000441.1	NP_000432.1:p.(Pro112Ser)	NC_000007.13:g.107312612C>T	VUS	1 lab	43835daaf8
16:89347286 ANKRD11 T>C	16	89347286	89347286	T	C	ANKRD11	c.5664A>G	NM_001256182.1	NP_001243111.1:p.(Ala1888=)	NC_000016.9:g.89347286T>C	(Likely) benign	1 lab	4384ff84a2
13:32907042 BRCA2 C>T	13	32907042	32907042	C	T	BRCA2	c.1427C>T	NM_000059.3	NP_000050.2:p.(Ser476Phe)	NC_000013.10:g.32907042C>T	VUS	1 lab	4387b70db9
17:46805590 HOXB13 G>A	17	46805590	46805590	G	A	HOXB13	c.366C>T	NM_006361.5	NP_006352.2:p.(Ser122=)	NC_000017.10:g.46805590G>A	(Likely) benign	1 lab	43891ff91d
4:77662043 SHROOM3 A>G	4	77662043	77662043	A	G	SHROOM3	c.2717A>G	NM_020859.3	NP_065910.3:p.(Asp906Gly)	NC_000004.11:g.77662043A>G	VUS	1 lab	438bce221b
2:152483519 NEB G>A	2	152483519	152483519	G	A	NEB	c.10344C>T	NM_001271208.1	NP_001258137.1:p.(Asn3448=)	NC_000002.11:g.152483519G>A	(Likely) benign	1 lab	068ccacb6d
7:92131201 PEX1 T>A	7	92131201	92131201	T	A	PEX1	c.1792+3A>T	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92131201T>A	VUS	1 lab	06fba6fc32
8:23560221 NKX2-6 C>A	8	23560221	23560221	C	A	NKX2-6	c.649G>T	NM_001136271.3	NP_001129743.2:p.(Gly217Cys)	NC_000008.10:g.23560221C>A	VUS	1 lab	438d8f0db5
18:42260834 SETBP1 A>AT	18	42260834	42260844	A	AT	SETBP1				NC_000018.9:g.42260844dup	(Likely) benign	1 lab	4391549b51
19:41860587 B9D2 C>T	19	41860587	41860587	C	T	B9D2	c.*18G>A	NM_030578.3	NP_085055.2:p.?	NC_000019.9:g.41860587C>T	(Likely) benign	1 lab	4393f1b294
5:112176341 APC T>C	5	112176341	112176341	T	C	APC	c.5050T>C	NM_000038.6	NP_000029.2:p.(Phe1684Leu)	NC_000005.9:g.112176341T>C	(Likely) benign	1 lab	43969d9837
12:862404 WNK1 C>G	12	862404	862404	C	G	WNK1	c.-328C>G	NM_001184985.1	NP_001171914.1:p.?	NC_000012.11:g.862404C>G	(Likely) benign	1 lab	43990c3ca4
6:133834060 EYA4 G>A	6	133834060	133834060	G	A	EYA4	c.1385G>A	NM_004100.5	NP_004091.3:p.(Ser462Asn)	NC_000006.11:g.133834060G>A	VUS	1 lab	4399290e9c
5:176722321 NSD1 C>T	5	176722321	176722321	C	T	NSD1	c.7952C>T	NM_022455.4	NP_071900.2:p.(Ser2651Phe)	NC_000005.9:g.176722321C>T	(Likely) benign	1 lab	4399f4e4db
2:179495676 TTN A>G	2	179495676	179495676	A	G	TTN	c.44015-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179495676A>G	(Likely) benign	1 lab	439aed44de
17:18039039 MYO15A G>T	17	18039039	18039039	G	T	MYO15A	c.4497G>T	NM_016239.3	NP_057323.3:p.(Glu1499Asp)	NC_000017.10:g.18039039G>T	VUS	1 lab	43bd2b9807
19:39062864 RYR1 A>C	19	39062864	39062864	A	C	RYR1	c.13952A>C	NM_000540.2	NP_000531.2:p.(His4651Pro)	NC_000019.9:g.39062864A>C	(Likely) pathogenic	1 lab	43a2e80713
X:108925993 ACSL4 C>A	X	108925993	108925993	C	A	ACSL4	c.484G>T	NM_022977.2	NP_075266.1:p.(Glu162Ter)	NC_000023.10:g.108925993C>A	(Likely) pathogenic	1 lab	43a32efb38
18:34273274 FHOD3 G>A	18	34273274	34273274	G	A	FHOD3	c.2124G>A	NM_001281740.3	NP_001268669.1:p.(Ser708=)	NC_000018.9:g.34273274G>A	(Likely) benign	1 lab	068e62c0a8
17:60685510 MISSING G>A	17	60685510	60685510	G	A	MISSING				NC_000017.10:g.60685510G>A	(Likely) pathogenic	1 lab	43a70cdd78
1:228466868 OBSCN C>T	1	228466868	228466868	C	T	OBSCN	c.8414-8C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228466868C>T	(Likely) benign	1 lab	43a932297a
5:149294505 PDE6A C>T	5	149294505	149294505	C	T	PDE6A	c.998+1G>A	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149294505C>T	(Likely) pathogenic	1 lab	43f80cda6e
3:120363283 HGD A>C	3	120363283	120363283	A	C	HGD	c.657T>G	NM_000187.3	NP_000178.2:p.(Asn219Lys)	NC_000003.11:g.120363283A>C	(Likely) pathogenic	1 lab	43a948e3fb
2:163130424 IFIH1 G>A	2	163130424	163130424	G	A	IFIH1	c.2335C>T	NM_022168.3	NP_071451.2:p.(Arg779Cys)	NC_000002.11:g.163130424G>A	(Likely) pathogenic	1 lab	43b19df658
17:41248904 BRCA1 G>A	17	41248904	41248904	G	A	BRCA1	c.593+357C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41248904G>A	(Likely) benign	1 lab	43b7bb95fb
22:51064662 ARSA A>G	22	51064662	51064662	A	G	ARSA	c.899T>C	NM_000487.6	NP_000478.3:p.(Leu300Ser)	NC_000022.10:g.51064662A>G	VUS	1 lab	0692216fae
3:129207247 IFT122 A>G	3	129207247	129207247	A	G	IFT122	c.2145+7A>G	NM_052985.2	NP_443711.2:p.?	NC_000003.11:g.129207247A>G	(Likely) benign	1 lab	43c1ac15ad
2:179647543 TTN C>T	2	179647543	179647543	C	T	TTN	c.3090G>A	NM_001267550.2	NP_001254479.2:p.(Leu1030=)	NC_000002.11:g.179647543C>T	(Likely) benign	1 lab	43c6b11605
1:209961959 IRF6 C>T	1	209961959	209961959	C	T	IRF6	c.1210G>A	NM_006147.3	NP_006138.1:p.(Glu404Lys)	NC_000001.10:g.209961959C>T	(Likely) pathogenic	1 lab	43cbcc5c53
10:89692872 PTEN T>C	10	89692872	89692872	T	C	PTEN	c.356T>C	NM_000314.8	NP_000305.3:p.(Val119Ala)	NC_000010.10:g.89692872T>C	VUS	1 lab	43cc42228f
12:6204737 VWF C>T	12	6204737	6204737	C	T	VWF	c.546G>A	NM_000552.3	NP_000543.2:p.(Ser182=)	NC_000012.11:g.6204737C>T	VUS	1 lab	43cd0f530f
1:228464412 OBSCN T>A	1	228464412	228464412	T	A	OBSCN	c.7607T>A	NM_001271223.2	NP_001258152.2:p.(Val2536Asp)	NC_000001.10:g.228464412T>A	VUS	1 lab	43cd7e3626
5:112151184 APC A>G	5	112151184	112151184	A	G	APC	c.835-8A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112151184A>G	(Likely) pathogenic	1 lab	43cdb3380d
7:142459878 PRSS1 G>A	7	142459878	142459878	G	A	PRSS1	c.454G>A	NM_002769.5	NP_002760.1:p.(Ala152Thr)	NC_000007.13:g.142459878G>A	VUS	1 lab	43cf448dac
19:15662217 CYP4F22 G>T	19	15662217	15662217	G	T	CYP4F22	c.1531G>T	NM_173483.4	NP_775754.2:p.(Glu511Ter)	NC_000019.9:g.15662217G>T	(Likely) pathogenic	1 lab	43cf5faee4
9:129377850 LMX1B T>C	9	129377850	129377850	T	C	LMX1B	c.326+2T>C	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129377850T>C	(Likely) pathogenic	1 lab	43cf70ce81
3:37034818 MLH1 C>T	3	37034818	37034818	C	T	MLH1				NC_000003.11:g.37034818C>T	(Likely) benign	1 lab	459e5a0921
12:32908154 YARS2 A>C	12	32908154	32908154	A	C	YARS2	c.655T>G	NM_001040436.2	NP_001035526.1:p.(Phe219Val)	NC_000012.11:g.32908154A>C	VUS	1 lab	43d174d68a
17:7319135 NLGN2 G>A	17	7319135	7319135	G	A	NLGN2	c.1343G>A	NM_020795.3	NP_065846.1:p.(Arg448His)	NC_000017.10:g.7319135G>A	VUS	1 lab	43d25542cb
2:179590730 TTN A>T	2	179590730	179590730	A	T	TTN	c.20319T>A	NM_001267550.1	NP_001254479.1:p.(Leu6773=)	NC_000002.11:g.179590730A>T	(Likely) benign	1 lab	43d72c5cd3
19:55663221 TNNI3 T>C	19	55663221	55663221	T	C	TNNI3	c.614A>G	NM_000363.4	NP_000354.4:p.(Lys205Arg)	NC_000019.9:g.55663221T>C	(Likely) benign	1 lab	43d939a53a
2:48027166 MSH6 TC>T	2	48027166	48027167	TC	T	MSH6	c.2045del	NM_000179.3	NP_000170.1:p.(Ser682LeufsTer3)	NC_000002.11:g.48027167del	(Likely) pathogenic	1 lab	43dfc224ed
8:23560426 NKX2-6 C>T	8	23560426	23560426	C	T	NKX2-6	c.444G>A	NM_001136271.2	NP_001129743.2:p.(Glu148=)	NC_000008.10:g.23560426C>T	(Likely) benign	1 lab	43e010c8af
18:31326536 ASXL3 G>T	18	31326536	31326536	G	T	ASXL3				NC_000018.9:g.31326536G>T	VUS	1 lab	43e1f2d751
3:193372817 OPA1 G>A	3	193372817	193372817	G	A	OPA1	c.2013+1G>A	NM_015560.3	NP_056375.2:p.?	NC_000003.11:g.193372817G>A	(Likely) pathogenic	1 lab	43e77d315e
11:47364667 MYBPC3 C>T	11	47364667	47364667	C	T	MYBPC3	c.1256G>A	NM_000256.3	NP_000247.2:p.(Arg419His)	NC_000011.9:g.47364667C>T	VUS	1 lab	43e81f9789
14:24728307 TGM1 C>T	14	24728307	24728307	C	T	TGM1	c.1133G>A	NM_000359.2	NP_000350.1:p.(Trp378Ter)	NC_000014.8:g.24728307C>T	(Likely) pathogenic	1 lab	43e8541f88
15:51514546 CYP19A1 C>T	15	51514546	51514546	C	T	CYP19A1				NC_000015.9:g.51514546C>T	(Likely) pathogenic	1 lab	43eb6527df
1:215901684 USH2A C>T	1	215901684	215901684	C	T	USH2A				NC_000001.10:g.215901684C>T	(Likely) pathogenic	1 lab	43ed9f891a
5:112175594 APC AG>A	5	112175594	112175595	AG	A	APC	c.4304del	NM_000038.6	NP_000029.2:p.(Arg1435LysfsTer38)	NC_000005.9:g.112175595del	(Likely) pathogenic	1 lab	43eda24fdc
6:157100048 ARID1B G>GC	6	157100048	157100049	G	GC	ARID1B	c.986dup	NM_020732.3	NP_065783.3:p.(Gly330ArgfsTer205)	NC_000006.11:g.157100049dup	(Likely) pathogenic	1 lab	43f2413b83
11:118133309 MPZL2 G>A	11	118133309	118133309	G	A	MPZL2	c.280C>T	NM_005797.4	NP_005788.1:p.(Arg94Trp)	NC_000011.9:g.118133309G>A	VUS	1 lab	43f80c7251
11:108164396 ATM T>G	11	108164396	108164396	T	G	ATM	c.4776+192T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108164396T>G	(Likely) benign	1 lab	43f8612bc6
2:167168190 SCN9A C>G	2	167168190	167168190	C	G	SCN9A	c.77G>C	NM_002977.3	NP_002968.1:p.(Arg26Pro)	NC_000002.11:g.167168190C>G	VUS	1 lab	43f868b616
12:6233698 VWF A>T	12	6233698	6233698	A	T	VWF	c.-112T>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6233698A>T	(Likely) benign	1 lab	43f992b47f
5:137780932 REEP2 T>C	5	137780932	137780932	T	C	REEP2	c.427T>C	NM_016606.2	NP_057690.2:p.(Ser143Pro)	NC_000005.9:g.137780932T>C	VUS	1 lab	43fc24d2fd
13:39430326 FREM2 T>C	13	39430326	39430326	T	C	FREM2	c.6989T>C	NM_207361.6	NP_997244.4:p.(Val2330Ala)	NC_000013.10:g.39430326T>C	(Likely) benign	1 lab	0694907283
20:13055029 SPTLC3 A>G	20	13055029	13055029	A	G	SPTLC3	c.491A>G	NM_018327.4	NP_060797.2:p.(Asn164Ser)	NC_000020.10:g.13055029A>G	VUS	1 lab	43fe2d39ac
1:215956239 USH2A T>G	1	215956239	215956239	T	G	USH2A	c.10426A>C	NM_206933.4	NP_996816.3:p.(Ile3476Leu)	NC_000001.10:g.215956239T>G	(Likely) benign	1 lab	4404dc6c1b
6:129380972 LAMA2 G>A	6	129380972	129380972	G	A	LAMA2	c.327G>A	NM_000426.3	NP_000417.2:p.(Trp109Ter)	NC_000006.11:g.129380972G>A	(Likely) pathogenic	1 lab	4406853ef2
5:256519 SDHA C>G	5	256519	256519	C	G	SDHA				NC_000005.9:g.256519C>G	VUS	1 lab	44089c6d5d
1:152285033 FLG CTT>C	1	152285033	152285035	CTT	C	FLG	c.2327_2328del	NM_002016.1	NP_002007.1:p.(Gln776ArgfsTer5)	NC_000001.10:g.152285034_152285035del	(Likely) pathogenic	1 lab	440b101f8e
16:28493513 CLN3 C>T	16	28493513	28493513	C	T	CLN3	c.969G>A	NM_001042432.1	NP_001035897.1:p.(Gln323=)	NC_000016.9:g.28493513C>T	(Likely) pathogenic	1 lab	440d2a533d
9:130442488 STXBP1 G>A	9	130442488	130442488	G	A	STXBP1	c.1514G>A	NM_001032221.6	NP_001027392.1:p.(Arg505His)	NC_000009.11:g.130442488G>A	VUS	1 lab	440d7e1c28
14:95582003 DICER1 C>T	14	95582003	95582003	C	T	DICER1	c.1907+1G>A	NM_177438.2	NP_803187.1:p.?	NC_000014.8:g.95582003C>T	(Likely) pathogenic	1 lab	440dc6f89d
19:41198211 COQ8B T>C	19	41198211	41198211	T	C	COQ8B	c.1364A>G	NM_024876.4	NP_079152.3:p.(Tyr455Cys)	NC_000019.9:g.41198211T>C	(Likely) benign	1 lab	06953eef57
19:920718 KISS1R C>A	19	920718	920718	C	A	KISS1R	c.1167C>A	NM_032551.5	NP_115940.2:p.(Cys389Ter)	NC_000019.9:g.920718C>A	(Likely) pathogenic	1 lab	44130e87a2
2:86444068 REEP1 A>G	2	86444068	86444068	A	G	REEP1	c.*155T>C	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86444068A>G	(Likely) benign	1 lab	4415e261e6
11:121016571 TECTA G>A	11	121016571	121016571	G	A	TECTA				NC_000011.9:g.121016571G>A	VUS	1 lab	441b2aa1b8
5:236692 SDHA C>T	5	236692	236692	C	T	SDHA	c.1410C>T	NM_004168.2	NP_004159.2:p.(Ser470=)	NC_000005.9:g.236692C>T	(Likely) benign	1 lab	4423582c48
19:17887097 FCHO1 C>T	19	17887097	17887097	C	T	FCHO1	c.1207+17C>T	NM_015122.3	NP_055937.1:p.?	NC_000019.9:g.17887097C>T	(Likely) benign	1 lab	0695850767
9:35808644 NPR2 C>G	9	35808644	35808644	C	G	NPR2	c.2851C>G	NM_003995.3	NP_003986.2:p.(His951Asp)	NC_000009.11:g.35808644C>G	VUS	1 lab	44260f2df6
X:41012318 USP9X G>C	X	41012318	41012318	G	C	USP9X	c.1881G>C	NM_001039591.3	NP_001034680.2:p.(Met627Ile)	NC_000023.10:g.41012318G>C	VUS	1 lab	44280f3c7b
17:41246376 BRCA1 T>TC	17	41246376	41246377	T	TC	BRCA1	c.1171dup	NM_007294.4	NP_009225.1:p.(Glu391GlyfsTer6)	NC_000017.10:g.41246377dup	(Likely) pathogenic	1 lab	442ad0ef54
X:13738081 TRAPPC2 A>G	X	13738081	13738081	A	G	TRAPPC2	c.104T>C	NM_001128835.2	NP_001122307.2:p.(Met35Thr)	NC_000023.10:g.13738081A>G	(Likely) pathogenic	1 lab	442b932ecc
1:94508412 ABCA4 C>T	1	94508412	94508412	C	T	ABCA4	c.3233G>A	NM_000350.2	NP_000341.2:p.(Gly1078Glu)	NC_000001.10:g.94508412C>T	VUS	1 lab	443012db3b
13:32929453 BRCA2 T>G	13	32929453	32929453	T	G	BRCA2	c.7435+28T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32929453T>G	(Likely) benign	1 lab	44313ce919
17:41201198 BRCA1 C>A	17	41201198	41201198	C	A	BRCA1	c.5346G>T	NM_007294.3	NP_009225.1:p.(Trp1782Cys)	NC_000017.10:g.41201198C>A	(Likely) benign	1 lab	443699e0ac
2:47693836 MSH2 C>T	2	47693836	47693836	C	T	MSH2				NC_000002.11:g.47693836C>T	(Likely) benign	1 lab	4437b235f1
13:32913593 BRCA2 C>T	13	32913593	32913593	C	T	BRCA2	c.5101C>T	NM_000059.3	NP_000050.2:p.(Gln1701Ter)	NC_000013.10:g.32913593C>T	(Likely) pathogenic	1 lab	443a25e5d8
6:32008721 CYP21A2 C>T	6	32008721	32008721	C	T	CYP21A2	c.1298C>T	NM_000500.7	NP_000491.4:p.(Pro433Leu)	NC_000006.11:g.32008721C>T	(Likely) pathogenic	1 lab	443ebf2e51
1:197396914 CRB1 C>T	1	197396914	197396914	C	T	CRB1	c.2459C>T	NM_201253.3	NP_957705.1:p.(Ser820Phe)	NC_000001.10:g.197396914C>T	VUS	1 lab	44446e4005
2:220284853 DES G>A	2	220284853	220284853	G	A	DES	c.615G>A	NM_001927.3	NP_001918.3:p.(Glu205=)	NC_000002.11:g.220284853G>A	(Likely) benign	1 lab	4446ff91fc
12:2602540 CACNA1C C>T	12	2602540	2602540	C	T	CACNA1C	c.1101C>T	NM_199460.3	NP_955630.3:p.(Asp367=)	NC_000012.11:g.2602540C>T	(Likely) benign	1 lab	4448f189ee
15:93496726 CHD2 T>C	15	93496726	93496726	T	C	CHD2	c.1642T>C	NM_001271.3	NP_001262.3:p.(Trp548Arg)	NC_000015.9:g.93496726T>C	(Likely) pathogenic	1 lab	444d13de40
19:50909714 POLD1 C>T	19	50909714	50909714	C	T	POLD1	c.1434C>T	NM_002691.3	NP_002682.2:p.(Ser478=)	NC_000019.9:g.50909714C>T	(Likely) benign	1 lab	444f9adcf2
16:84056488 SLC38A8 C>A	16	84056488	84056488	C	A	SLC38A8	c.697G>T	NM_001080442.3	NP_001073911.1:p.(Glu233Ter)	NC_000016.9:g.84056488C>A	(Likely) pathogenic	1 lab	44540d17ee
17:63185408 RGS9 A>G	17	63185408	63185408	A	G	RGS9				NC_000017.10:g.63185408A>G	(Likely) benign	1 lab	44542cb38f
8:145007133 PLEC A>G	8	145007133	145007133	A	G	PLEC	c.1976T>C	NM_201380.4	NP_958782.1:p.(Leu659Pro)	NC_000008.10:g.145007133A>G	VUS	1 lab	06965fc4f2
10:73500594 CDH23 C>T	10	73500594	73500594	C	T	CDH23	c.4504C>T	NM_022124.5	NP_071407.4:p.(Arg1502Ter)	NC_000010.10:g.73500594C>T	(Likely) pathogenic	1 lab	4455098614
X:70342357 MED12 G>C	X	70342357	70342357	G	C	MED12	c.1249-1G>C	NM_005120.2	NP_005111.2:p.?	NC_000023.10:g.70342357G>C	(Likely) pathogenic	1 lab	4455f325ac
16:56912999 SLC12A3 C>T	16	56912999	56912999	C	T	SLC12A3	c.1195C>T	NM_000339.3	NP_000330.3:p.(Arg399Cys)	NC_000016.9:g.56912999C>T	(Likely) pathogenic	1 lab	445b9f73cb
1:228554800 OBSCN G>A	1	228554800	228554800	G	A	OBSCN	c.22423G>A	NM_001271223.2	NP_001258152.2:p.(Ala7475Thr)	NC_000001.10:g.228554800G>A	VUS	1 lab	445c5bb240
1:57349140 C8A CT>C	1	57349140	57349150	CT	C	C8A	c.655-4del	NM_000562.3	NP_000553.1:p.?	NC_000001.10:g.57349150del	(Likely) benign	1 lab	0696a6b155
5:112173299 APC A>T	5	112173299	112173299	A	T	APC	c.2008A>T	NM_000038.5	NP_000029.2:p.(Lys670Ter)	NC_000005.9:g.112173299A>T	(Likely) pathogenic	1 lab	44669bfe55
12:6128454 VWF G>A	12	6128454	6128454	G	A	VWF	c.4130C>T	NM_000552.3	NP_000543.2:p.(Ala1377Val)	NC_000012.11:g.6128454G>A	VUS	1 lab	449c68b4ae
11:108138053 ATM G>C	11	108138053	108138053	G	C	ATM	c.2622G>C	NM_000051.3	NP_000042.3:p.(Glu874Asp)	NC_000011.9:g.108138053G>C	(Likely) benign	1 lab	446a1ed172
4:114277863 ANK2 T>A	4	114277863	114277863	T	A	ANK2	c.4427-4116T>A	NM_020977.4	NP_066187.2:p.?	NC_000004.11:g.114277863T>A	(Likely) benign	1 lab	446beab10d
5:112175423 APC C>T	5	112175423	112175423	C	T	APC	c.4132C>T	NM_000038.5	NP_000029.2:p.(Gln1378Ter)	NC_000005.9:g.112175423C>T	(Likely) pathogenic	1 lab	4474f90d2e
14:65544706 MAX T>C	14	65544706	65544706	T	C	MAX				NC_000014.8:g.65544706T>C	VUS	1 lab	447decb3c6
16:16308295 ABCC6 G>A	16	16308295	16308295	G	A	ABCC6	c.486C>T	NM_001171.5	NP_001162.4:p.(Ser162=)	NC_000016.9:g.16308295G>A	(Likely) benign	1 lab	4484c6ced3
6:151748629 RMND1 T>G	6	151748629	151748629	T	G	RMND1	c.818A>C	NM_017909.4	NP_060379.2:p.(Tyr273Ser)	NC_000006.11:g.151748629T>G	(Likely) pathogenic	1 lab	448b510927
6:116441501 COL10A1 A>G	6	116441501	116441501	A	G	COL10A1	c.1778T>C	NM_000493.4	NP_000484.2:p.(Ile593Thr)	NC_000006.11:g.116441501A>G	VUS	1 lab	448d51f400
14:23857466 MYH6 G>T	14	23857466	23857466	G	T	MYH6	c.4257C>A	NM_002471.3	NP_002462.2:p.(Thr1419=)	NC_000014.8:g.23857466G>T	(Likely) benign	1 lab	0699b5cfe5
1:24669202 GRHL3 C>T	1	24669202	24669202	C	T	GRHL3	c.1225C>T	NM_198173.3	NP_937816.1:p.(Arg409Cys)	NC_000001.10:g.24669202C>T	VUS	1 lab	449ce0c097
17:56769999 RAD51C C>T	17	56769999	56769999	C	T	RAD51C	c.-6C>T	NM_058216.2	NP_478123.1:p.?	NC_000017.10:g.56769999C>T	(Likely) benign	1 lab	449e7f8092
13:113772984 F7 C>T	13	113772984	113772984	C	T	F7	c.1063C>T	NM_000131.4	NP_000122.1:p.(Leu355=)	NC_000013.10:g.113772984C>T	(Likely) benign	1 lab	449f5d6879
X:153448204 OPN1MW G>A	X	153448204	153448204	G	A	OPN1MW	c.38G>A	NM_000513.2	NP_000504.1:p.(Arg13His)	NC_000023.10:g.153448204G>A	(Likely) benign	1 lab	44a1dbd1d6
3:121994674 CASR C>T	3	121994674	121994674	C	T	CASR	c.1393C>T	NM_000388.4	NP_000379.3:p.(Arg465Trp)	NC_000003.11:g.121994674C>T	(Likely) pathogenic	1 lab	44a4edf30d
19:42796609 CIC C>G	19	42796609	42796609	C	G	CIC	c.5893C>G	NM_001386298.1	NP_001373227.1:p.(Leu1965Val)	NC_000019.9:g.42796609C>G	VUS	1 lab	44a74a2d8a
1:107690923 NTNG1 A>G	1	107690923	107690923	A	G	NTNG1	c.-293A>G	NM_001113226.1	NP_001106697.1:p.?	NC_000001.10:g.107690923A>G	(Likely) benign	1 lab	44a8cd99db
19:38946356 RYR1 A>T	19	38946356	38946356	A	T	RYR1	c.1756A>T	NM_000540.3	NP_000531.2:p.(Ile586Phe)	NC_000019.9:g.38946356A>T	VUS	1 lab	44a9934156
4:80905069 ANTXR2 T>C	4	80905069	80905069	T	C	ANTXR2	c.1142A>G	NM_058172.6	NP_477520.2:p.(Tyr381Cys)	NC_000004.11:g.80905069T>C	(Likely) pathogenic	1 lab	44abc7e131
2:167262543 SCN7A G>A	2	167262543	167262543	G	A	SCN7A	c.4596C>T	NM_002976.4	NP_002967.2:p.(Tyr1532=)	NC_000002.11:g.167262543G>A	(Likely) benign	1 lab	44b37c0ac9
2:114000341 PAX8 T>C	2	114000341	114000341	T	C	PAX8	c.404A>G	NM_003466.4	NP_003457.1:p.(Lys135Arg)	NC_000002.11:g.114000341T>C	(Likely) benign	1 lab	069c1aee42
19:50721005 MYH14 G>A	19	50721005	50721005	G	A	MYH14	c.539G>A	NM_001145809.1	NP_001139281.1:p.(Gly180Glu)	NC_000019.9:g.50721005G>A	VUS	1 lab	44b63987f7
17:36099497 HNF1B T>C	17	36099497	36099497	T	C	HNF1B	c.478A>G	NM_000458.2	NP_000449.1:p.(Met160Val)	NC_000017.10:g.36099497T>C	(Likely) pathogenic	1 lab	44b7676805
12:57971509 KIF5A C>T	12	57971509	57971509	C	T	KIF5A	c.2314C>T	NM_004984.4	NP_004975.2:p.(Arg772Ter)	NC_000012.11:g.57971509C>T	VUS	1 lab	44b85b09df
3:37089058 MLH1 G>T	3	37089058	37089058	G	T	MLH1	c.1780G>T	NM_000249.4	NP_000240.1:p.(Glu594Ter)	NC_000003.11:g.37089058G>T	(Likely) pathogenic	1 lab	44bae51284
10:89692905 PTEN G>C	10	89692905	89692905	G	C	PTEN	c.389G>C	NM_000314.8	NP_000305.3:p.(Arg130Pro)	NC_000010.10:g.89692905G>C	(Likely) pathogenic	1 lab	44be37b681
22:50659395 TUBGCP6 C>T	22	50659395	50659395	C	T	TUBGCP6	c.3393G>A	NM_020461.4	NP_065194.3:p.(Trp1131Ter)	NC_000022.10:g.50659395C>T	(Likely) pathogenic	1 lab	44c25900db
3:45533224 LARS2 G>A	3	45533224	45533224	G	A	LARS2	c.1455G>A	NM_015340.3	NP_056155.1:p.(Ala485=)	NC_000003.11:g.45533224G>A	(Likely) benign	1 lab	44c265c9a5
6:76660367 IMPG1 A>G	6	76660367	76660367	A	G	IMPG1	c.1736T>C	NM_001563.3	NP_001554.2:p.(Leu579Pro)	NC_000006.11:g.76660367A>G	VUS	1 lab	44c4c9de2e
3:37035012 MLH1 C>A	3	37035012	37035012	C	A	MLH1				NC_000003.11:g.37035012C>A	(Likely) pathogenic	1 lab	4e9e79b652
5:180046758 FLT4 C>G	5	180046758	180046758	C	G	FLT4	c.2554G>C	NM_182925.4	NP_891555.2:p.(Gly852Arg)	NC_000005.9:g.180046758C>G	VUS	1 lab	44c71e1243
X:69521903 KIF4A A>C	X	69521903	69521903	A	C	KIF4A	c.670A>C	NM_012310.5	NP_036442.3:p.(Lys224Gln)	NC_000023.10:g.69521903A>C	(Likely) benign	1 lab	44c77c66b1
1:103379194 COL11A1 G>T	1	103379194	103379194	G	T	COL11A1	c.4031C>A	NM_001854.4	NP_001845.3:p.(Pro1344Gln)	NC_000001.10:g.103379194G>T	VUS	1 lab	44c94562ec
4:109861714 COL25A1 C>T	4	109861714	109861714	C	T	COL25A1				NC_000004.11:g.109861714C>T	(Likely) benign	1 lab	479f0a056f
8:117878832 RAD21 G>C	8	117878832	117878832	G	C	RAD21	c.137C>G	NM_006265.2	NP_006256.1:p.(Ser46Ter)	NC_000008.10:g.117878832G>C	(Likely) pathogenic	1 lab	44cbdcaed8
11:108203632 ATM GT>G	11	108203632	108203640	GT	G	ATM	c.7927+13del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108203640del	(Likely) benign	1 lab	44cfd0b00b
9:36218221 GNE G>A	9	36218221	36218221	G	A	GNE	c.1892C>T	NM_005476.5	NP_005467.1:p.(Ala631Val)	NC_000009.11:g.36218221G>A	(Likely) pathogenic	1 lab	44d08466a1
17:29684024 NF1 AG>A	17	29684024	29684025	AG	A	NF1	c.7723del	NM_000267.3	NP_000258.1:p.(Val2575PhefsTer28)	NC_000017.10:g.29684025del	(Likely) pathogenic	1 lab	44d46a547c
16:31473241 ARMC5 A>T	16	31473241	31473241	A	T	ARMC5	c.476-2A>T	NM_001105247.1	NP_001098717.1:p.?	NC_000016.9:g.31473241A>T	(Likely) pathogenic	1 lab	44d775445b
3:38802144 SCN10A C>T	3	38802144	38802144	C	T	SCN10A	c.950+28G>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38802144C>T	(Likely) benign	1 lab	44d905d816
2:167099130 SCN9A A>G	2	167099130	167099130	A	G	SCN9A	c.3476T>C	NM_002977.3	NP_002968.1:p.(Ile1159Thr)	NC_000002.11:g.167099130A>G	(Likely) benign	1 lab	44dbdb8d2d
12:6134790 VWF A>C	12	6134790	6134790	A	C	VWF	c.3178T>G	NM_000552.3	NP_000543.2:p.(Cys1060Gly)	NC_000012.11:g.6134790A>C	VUS	1 lab	44e035d05d
5:251567 SDHA C>T	5	251567	251567	C	T	SDHA	c.1778C>T	NM_004168.2	NP_004159.2:p.(Ala593Val)	NC_000005.9:g.251567C>T	VUS	1 lab	fde9eef6c6
17:29661909 NF1 CT>C	17	29661909	29661910	CT	C	NF1	c.5804del	NM_000267.3	NP_000258.1:p.(Leu1935GlnfsTer23)	NC_000017.10:g.29661910del	(Likely) pathogenic	1 lab	44ee56dc31
5:112111413 APC TA>T	5	112111413	112111414	TA	T	APC	c.511del	NM_001354896.2	NP_001341825.1:p.(Ser171ValfsTer4)	NC_000005.9:g.112111414del	(Likely) pathogenic	1 lab	44ef7e24b3
11:108160336 ATM A>G	11	108160336	108160336	A	G	ATM	c.4244A>G	NM_000051.4	NP_000042.3:p.(Tyr1415Cys)	NC_000011.9:g.108160336A>G	VUS	1 lab	44f99d6def
3:37061838 MLH1 C>T	3	37061838	37061838	C	T	MLH1	c.922C>T	NM_000249.4	NP_000240.1:p.(His308Tyr)	NC_000003.11:g.37061838C>T	VUS	1 lab	44fa247394
21:45152116 MISSING G>Alt too long to show for this DUP	21	45152116	45268475	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.45152117_45268475dup	VUS	1 lab	07e703cdc6
3:10183606 VHL T>C	3	10183606	10183606	T	C	VHL	c.75T>C	NM_000551.3	NP_000542.1:p.(Pro25=)	NC_000003.11:g.10183606T>C	(Likely) benign	1 lab	44fb668cfd
6:157100392 ARID1B C>CA	6	157100392	157100393	C	CA	ARID1B	c.1330dup	NM_001346813.1	NP_001333742.1:p.(Ser444LysfsTer91)	NC_000006.11:g.157100393dup	(Likely) pathogenic	1 lab	44fcc2129a
X:138643907 F9 G>A	X	138643907	138643907	G	A	F9	c.1063G>A	NM_000133.4	NP_000124.1:p.(Gly355Ser)	NC_000023.10:g.138643907G>A	(Likely) pathogenic	1 lab	4502e7bfd8
2:48027853 MSH6 C>A	2	48027853	48027853	C	A	MSH6	c.2731C>A	NM_000179.2	NP_000170.1:p.(Arg911=)	NC_000002.11:g.48027853C>A	(Likely) benign	1 lab	45043f1b41
3:71050120 FOXP1 T>C	3	71050120	71050120	T	C	FOXP1	c.1062+3A>G	NM_032682.5	NP_116071.2:p.?	NC_000003.11:g.71050120T>C	(Likely) pathogenic	1 lab	4505acacaa
2:48032092 MSH6 C>T	2	48032092	48032092	C	T	MSH6	c.3482C>T	NM_000179.3	NP_000170.1:p.(Pro1161Leu)	NC_000002.11:g.48032092C>T	(Likely) pathogenic	1 lab	4505b3828b
17:16229232 PIGL A>G	17	16229232	16229232	A	G	PIGL	c.*20A>G	NM_004278.3	NP_004269.1:p.?	NC_000017.10:g.16229232A>G	(Likely) benign	1 lab	4507b9ca82
11:103152929 DYNC2H1 G>A	11	103152929	103152929	G	A	DYNC2H1	c.10804G>A	NM_001080463.1	NP_001073932.1:p.(Val3602Met)	NC_000011.9:g.103152929G>A	VUS	1 lab	450812b39e
7:6431563 RAC1 A>G	7	6431563	6431563	A	G	RAC1	c.116A>G	NM_018890.3	NP_061485.1:p.(Asn39Ser)	NC_000007.13:g.6431563A>G	(Likely) pathogenic	1 lab	4508cdf4ca
10:89717672 MISSING C>T	10	89717672	89717672	C	T	MISSING				NC_000010.10:g.89717672C>T	(Likely) pathogenic	1 lab	4509a11026
3:119886776 GPR156 T>A	3	119886776	119886776	T	A	GPR156	c.1548A>T	NM_153002.2	NP_694547.2:p.(Glu516Asp)	NC_000003.11:g.119886776T>A	(Likely) benign	1 lab	450a56bd1d
7:128483459 FLNC C>T	7	128483459	128483459	C	T	FLNC	c.2642-3C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483459C>T	VUS	1 lab	15fbf0db77
17:41215416 BRCA1 T>C	17	41215416	41215416	T	C	BRCA1	c.5153-26A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215416T>C	VUS	1 lab	450bd00c7a
X:38262956 OTC C>T	X	38262956	38262956	C	T	OTC	c.626C>T	NM_000531.5	NP_000522.3:p.(Ala209Val)	NC_000023.10:g.38262956C>T	(Likely) pathogenic	1 lab	450d001f4c
2:166870199 SCN1A G>C	2	166870199	166870199	G	C	SCN1A	c.3705+55C>G	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166870199G>C	(Likely) benign	1 lab	06a2adb364
5:112175729 APC C>T	5	112175729	112175729	C	T	APC	c.4438C>T	NM_000038.6	NP_000029.2:p.(Gln1480Ter)	NC_000005.9:g.112175729C>T	(Likely) pathogenic	1 lab	4512e0495a
12:133198395 P2RX2 C>T	12	133198395	133198395	C	T	P2RX2	c.1141-89C>T	NM_174873.3	NP_777362.1:p.?	NC_000012.11:g.133198395C>T	(Likely) benign	1 lab	4514dd4e71
7:128626828 TNPO3 C>T	7	128626828	128626828	C	T	TNPO3	c.1645G>A	NM_012470.3	NP_036602.1:p.(Asp549Asn)	NC_000007.13:g.128626828C>T	VUS	1 lab	4515fc07c5
17:38975155 KRT10 G>GC	17	38975155	38975160	G	GC	KRT10	c.1631dup	NM_000421.3	NP_000412.3:p.(Gly545ArgfsTer36)	NC_000017.10:g.38975160dup	(Likely) pathogenic	1 lab	4518f48ded
12:9020885 A2ML1 G>A	12	9020885	9020885	G	A	A2ML1	c.3993G>A	NM_144670.4	NP_653271.2:p.(Val1331=)	NC_000012.11:g.9020885G>A	(Likely) benign	1 lab	4519464d29
4:106180929 TET2 T>G	4	106180929	106180929	T	G	TET2	c.3954+3T>G	NM_001127208.2	NP_001120680.1:p.?	NC_000004.11:g.106180929T>G	(Likely) benign	1 lab	06a40bff0f
15:43018486 CDAN1 G>A	15	43018486	43018486	G	A	CDAN1	c.3204+22C>T	NM_138477.2	NP_612486.2:p.?	NC_000015.9:g.43018486G>A	(Likely) benign	1 lab	451f3ff76a
4:68606349 GNRHR C>T	4	68606349	68606349	C	T	GNRHR	c.836G>A	NM_000406.2	NP_000397.1:p.(Cys279Tyr)	NC_000004.11:g.68606349C>T	(Likely) pathogenic	1 lab	45202463ab
5:167625871 TENM2 G>A	5	167625871	167625871	G	A	TENM2	c.2887G>A	NM_001122679.1	NP_001116151.1:p.(Ala963Thr)	NC_000005.9:g.167625871G>A	VUS	1 lab	45225ef472
11:1016881 MUC6 C>T	11	1016881	1016881	C	T	MUC6	c.5920G>A	NM_005961.3	NP_005952.2:p.(Gly1974Arg)	NC_000011.9:g.1016881C>T	(Likely) benign	1 lab	168da1551e
3:38766704 SCN10A C>T	3	38766704	38766704	C	T	SCN10A	c.3189G>A	NM_006514.3	NP_006505.3:p.(Glu1063=)	NC_000003.11:g.38766704C>T	(Likely) benign	1 lab	4528825a7d
7:128641272 TNPO3 G>A	7	128641272	128641272	G	A	TNPO3	c.713C>T	NM_012470.3	NP_036602.1:p.(Ser238Leu)	NC_000007.13:g.128641272G>A	VUS	1 lab	452933d838
1:10335561 KIF1B G>A	1	10335561	10335561	G	A	KIF1B	c.940G>A	NM_015074.3	NP_055889.2:p.(Gly314Ser)	NC_000001.10:g.10335561G>A	VUS	1 lab	452f1d6837
1:156100431 LMNA T>A	1	156100431	156100431	T	A	LMNA				NC_000001.10:g.156100431T>A	VUS	1 lab	06a97d4c88
7:24738646 GSDME C>G	7	24738646	24738646	C	G	GSDME				NC_000007.13:g.24738646C>G	VUS	1 lab	453dbde34f
19:39056396 RYR1 CAA>C	19	39056396	39056398	CAA	C	RYR1	c.13423_13424del	NM_000540.2	NP_000531.2:p.(Lys4475GlufsTer107)	NC_000019.9:g.39056397_39056398del	(Likely) pathogenic	1 lab	454169112b
3:38608022 SCN5A C>G	3	38608022	38608022	C	G	SCN5A	c.3718G>C	NM_198056.2	NP_932173.1:p.(Glu1240Gln)	NC_000003.11:g.38608022C>G	(Likely) benign	1 lab	45416f7a07
3:178952090 PIK3CA G>C	3	178952090	178952090	G	C	PIK3CA	c.3145G>C	NM_006218.4	NP_006209.2:p.(Gly1049Arg)	NC_000003.11:g.178952090G>C	(Likely) pathogenic	1 lab	4548c6c4a2
X:153220206 HCFC1 C>T	X	153220206	153220206	C	T	HCFC1	c.3644G>A	NM_005334.2	NP_005325.2:p.(Ser1215Asn)	NC_000023.10:g.153220206C>T	VUS	1 lab	454c96097e
20:49510194 ADNP C>T	20	49510194	49510194	C	T	ADNP	c.1057G>A	NM_001282531.3	NP_001269460.1:p.(Gly353Ser)	NC_000020.10:g.49510194C>T	(Likely) benign	1 lab	454f55d71e
4:120214030 USP53 T>G	4	120214030	120214030	T	G	USP53	c.2886T>G	NM_019050.2	NP_061923.2:p.(Ser962Arg)	NC_000004.11:g.120214030T>G	(Likely) benign	1 lab	454f61d548
7:128496924 FLNC G>C	7	128496924	128496924	G	C	FLNC	c.7510G>C	NM_001458.5	NP_001449.3:p.(Asp2504His)	NC_000007.13:g.128496924G>C	VUS	1 lab	4551e80082
10:88659782 BMPR1A A>C	10	88659782	88659782	A	C	BMPR1A	c.431-2A>C	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88659782A>C	(Likely) pathogenic	1 lab	4553240ae9
X:153171088 AVPR2 T>C	X	153171088	153171088	T	C	AVPR2	c.128T>C	NM_000054.7	NP_000045.1:p.(Leu43Pro)	NC_000023.10:g.153171088T>C	(Likely) pathogenic	1 lab	45535555c6
8:61761160 CHD7 C>G	8	61761160	61761160	C	G	CHD7	c.5297C>G	NM_017780.3	NP_060250.2:p.(Ser1766Ter)	NC_000008.10:g.61761160C>G	(Likely) pathogenic	1 lab	4558638d56
X:107823969 COL4A5 G>A	X	107823969	107823969	G	A	COL4A5	c.891+1G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107823969G>A	(Likely) pathogenic	1 lab	455b8e8274
18:44152088 LOXHD1 G>A	18	44152088	44152088	G	A	LOXHD1	c.2008C>T	NM_144612.6	NP_653213.6:p.(Arg670Ter)	NC_000018.9:g.44152088G>A	(Likely) pathogenic	1 lab	455c85918e
17:41215987 BRCA1 T>TA	17	41215987	41215988	T	TA	BRCA1	c.5138-20_5138-19insT	NM_007300.4	NP_009231.2:p.?	NC_000017.10:g.41215987_41215988insA	VUS	1 lab	06aa18c3ef
12:7048292 ATN1 C>T	12	7048292	7048292	C	T	ATN1	c.3166C>T	NM_001007026.1	NP_001007027.1:p.(His1056Tyr)	NC_000012.11:g.7048292C>T	(Likely) pathogenic	1 lab	455e3c192a
15:63336019 TPM1 G>A	15	63336019	63336019	G	A	TPM1	c.229G>A	NM_001018007.1	NP_001018007.1:p.(Ala77Thr)	NC_000015.9:g.63336019G>A	(Likely) benign	1 lab	4561461c92
16:89616887 SPG7 C>A	16	89616887	89616887	C	A	SPG7	c.1664-15C>A	NM_003119.2	NP_003110.1:p.?	NC_000016.9:g.89616887C>A	(Likely) benign	1 lab	456706ff77
13:32893466 BRCA2 A>G	13	32893466	32893466	A	G	BRCA2	c.316+4A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893466A>G	VUS	1 lab	45692bf789
X:70627470 TAF1 C>G	X	70627470	70627470	C	G	TAF1	c.4154C>G	NM_004606.5	NP_004597.3:p.(Thr1385Arg)	NC_000023.10:g.70627470C>G	(Likely) benign	1 lab	4569a223eb
12:49420606 KMT2D C>T	12	49420606	49420606	C	T	KMT2D	c.15143G>A	NM_003482.4	NP_003473.3:p.(Arg5048His)	NC_000012.11:g.49420606C>T	(Likely) pathogenic	1 lab	456cca7f0e
17:41267807 BRCA1 AG>A	17	41267807	41267814	AG	A	BRCA1	c.81-12del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267814del	(Likely) benign	1 lab	456db57b5f
2:48026270 MSH6 G>T	2	48026270	48026270	G	T	MSH6	c.1148G>T	NM_000179.2	NP_000170.1:p.(Arg383Met)	NC_000002.11:g.48026270G>T	VUS	1 lab	456edb079e
2:227954602 COL4A4 C>T	2	227954602	227954602	C	T	COL4A4	c.1441G>A	NM_000092.4	NP_000083.3:p.(Gly481Ser)	NC_000002.11:g.227954602C>T	(Likely) pathogenic	1 lab	456f3e5a2f
14:102486394 DYNC1H1 G>T	14	102486394	102486394	G	T	DYNC1H1	c.8507+1G>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102486394G>T	(Likely) benign	1 lab	4572a573d0
13:32936832 BRCA2 CAA>C	13	32936832	32936834	CAA	C	BRCA2	c.7976+3_7976+4del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32936833_32936834del	(Likely) pathogenic	1 lab	4574eb2f23
2:131356493 CFC1 A>G	2	131356493	131356493	A	G	CFC1	c.63T>C	NM_032545.3	NP_115934.1:p.(Asn21=)	NC_000002.11:g.131356493A>G	(Likely) benign	1 lab	457632c881
X:82763828 POU3F4 C>T	X	82763828	82763828	C	T	POU3F4	c.496C>T	NM_000307.5	NP_000298.3:p.(Leu166Phe)	NC_000023.10:g.82763828C>T	VUS	1 lab	457fad5a7a
13:28197134 POLR1D C>T	13	28197134	28197134	C	T	POLR1D	c.149C>T	NM_015972.3	NP_057056.1:p.(Thr50Ile)	NC_000013.10:g.28197134C>T	VUS	1 lab	45843f8af0
1:215848235 USH2A C>G	1	215848235	215848235	C	G	USH2A	c.13018G>C	NM_206933.4	NP_996816.3:p.(Gly4340Arg)	NC_000001.10:g.215848235C>G	(Likely) pathogenic	1 lab	45846f8853
11:76871329 MYO7A G>A	11	76871329	76871329	G	A	MYO7A	c.1200+1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76871329G>A	(Likely) pathogenic	1 lab	4584aff6dd
16:89623304 SPG7 G>A	16	89623304	89623304	G	A	SPG7	c.2191G>A	NM_003119.4	NP_003110.1:p.(Ala731Thr)	NC_000016.9:g.89623304G>A	VUS	1 lab	458605d77d
9:98231290 PTCH1 G>A	9	98231290	98231290	G	A	PTCH1	c.1993C>T	NM_000264.4	NP_000255.2:p.(Arg665Cys)	NC_000009.11:g.98231290G>A	VUS	1 lab	4587c4204c
2:179422295 TTN G>A	2	179422295	179422295	G	A	TTN	c.87707-13C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179422295G>A	(Likely) benign	1 lab	458808879a
2:48033692 MSH6 T>C	2	48033692	48033692	T	C	MSH6	c.3903T>C	NM_000179.2	NP_000170.1:p.(Asn1301=)	NC_000002.11:g.48033692T>C	(Likely) benign	1 lab	458a7db3e5
11:61548802 MYRF GT>G	11	61548802	61548803	GT	G	MYRF	c.2764+2del	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61548803del	(Likely) pathogenic	1 lab	458e3e0868
4:15987629 PROM1 T>C	4	15987629	15987629	T	C	PROM1	c.2162A>G	NM_006017.2	NP_006008.1:p.(Asp721Gly)	NC_000004.11:g.15987629T>C	(Likely) benign	1 lab	458fc709f4
14:21854315 CHD8 C>T	14	21854315	21854315	C	T	CHD8	c.7203G>A	NM_001170629.2	NP_001164100.1:p.(Val2401=)	NC_000014.8:g.21854315C>T	(Likely) benign	1 lab	06ac948582
14:29236774 FOXG1 A>G	14	29236774	29236774	A	G	FOXG1	c.289A>G	NM_005249.4	NP_005240.3:p.(Lys97Glu)	NC_000014.8:g.29236774A>G	(Likely) benign	1 lab	459167001c
X:70384143 NLGN3 G>A	X	70384143	70384143	G	A	NLGN3	c.878G>A	NM_181303.1	NP_851820.1:p.(Cys293Tyr)	NC_000023.10:g.70384143G>A	VUS	1 lab	459220d460
X:70356426 MED12 C>T	X	70356426	70356426	C	T	MED12	c.5321C>T	NM_005120.3	NP_005111.2:p.(Ala1774Val)	NC_000023.10:g.70356426C>T	(Likely) benign	1 lab	4593c4391d
16:9858457 GRIN2A C>A	16	9858457	9858457	C	A	GRIN2A	c.2944G>T	NM_000833.4	NP_000824.1:p.(Gly982Ter)	NC_000016.9:g.9858457C>A	(Likely) pathogenic	1 lab	4598a235ec
7:107338530 SLC26A4 T>C	7	107338530	107338530	T	C	SLC26A4	c.1588T>C	NM_000441.1	NP_000432.1:p.(Tyr530His)	NC_000007.13:g.107338530T>C	(Likely) pathogenic	1 lab	459921bf99
1:216373042 USH2A T>TA	1	216373042	216373043	T	TA	USH2A				NC_000001.10:g.216373043dup	(Likely) pathogenic	1 lab	4599831c50
2:179392461 TTN G>T	2	179392461	179392461	G	T	TTN	c.107392C>A	NM_001267550.2	NP_001254479.2:p.(Pro35798Thr)	NC_000002.11:g.179392461G>T	VUS	1 lab	4599f812d3
4:1808405 FGFR3 C>G	4	1808405	1808405	C	G	FGFR3	c.2163C>G	NM_000142.4	NP_000133.1:p.(His721Gln)	NC_000004.11:g.1808405C>G	VUS	1 lab	459b340898
19:39215172 ACTN4 T>C	19	39215172	39215172	T	C	ACTN4	c.1977T>C	NM_004924.4	NP_004915.2:p.(Asn659=)	NC_000019.9:g.39215172T>C	(Likely) benign	1 lab	459bcedc81
12:6125777 VWF G>A	12	6125777	6125777	G	A	VWF	c.5216C>T	NM_000552.3	NP_000543.2:p.(Thr1739Ile)	NC_000012.11:g.6125777G>A	VUS	1 lab	459c6545be
20:57599236 TUBB1 A>G	20	57599236	57599236	A	G	TUBB1	c.754A>G	NM_030773.4	NP_110400.1:p.(Lys252Glu)	NC_000020.10:g.57599236A>G	VUS	1 lab	459d237c7f
16:15818280 MYH11 G>A	16	15818280	15818280	G	A	MYH11	c.4138-14C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818280G>A	(Likely) benign	1 lab	06ae6953b7
17:33434075 RAD51D T>C	17	33434075	33434075	T	C	RAD51D	c.412A>G	NM_002878.3	NP_002869.3:p.(Asn138Asp)	NC_000017.10:g.33434075T>C	(Likely) benign	1 lab	45a865ad99
5:89938703 ADGRV1 C>T	5	89938703	89938703	C	T	ADGRV1	c.2398C>T	NM_032119.4	NP_115495.3:p.(Arg800Ter)	NC_000005.9:g.89938703C>T	(Likely) pathogenic	1 lab	45a88c4946
12:6697546 CHD4 G>A	12	6697546	6697546	G	A	CHD4	c.3383C>T	NM_001273.3	NP_001264.2:p.(Ala1128Val)	NC_000012.11:g.6697546G>A	(Likely) pathogenic	1 lab	45a8967700
X:107845135 COL4A5 C>T	X	107845135	107845135	C	T	COL4A5	c.2062C>T	NM_033380.2	NP_203699.1:p.(Gln688Ter)	NC_000023.10:g.107845135C>T	(Likely) pathogenic	1 lab	45a8f64304
1:94546736 ABCA4 G>A	1	94546736	94546736	G	A	ABCA4	c.859-462C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94546736G>A	(Likely) benign	1 lab	45ad5dadb0
19:35530592 SCN1B A>T	19	35530592	35530592	A	T	SCN1B	c.644A>T	NM_001037.4	NP_001028.1:p.(Gln215Leu)	NC_000019.9:g.35530592A>T	VUS	1 lab	45aea0caa3
6:7880349 BMP6 A>C	6	7880349	7880349	A	C	BMP6	c.1392+15A>C	NM_001718.6	NP_001709.1:p.?	NC_000006.11:g.7880349A>C	(Likely) benign	1 lab	45b03428c5
10:90767457 FAS G>A	10	90767457	90767457	G	A	FAS	c.197G>A	NM_000043.4	NP_000034.1:p.(Gly66Asp)	NC_000010.10:g.90767457G>A	VUS	1 lab	06ae8b26bc
2:179458186 TTN A>C	2	179458186	179458186	A	C	TTN	c.58749T>G	NM_001267550.2	NP_001254479.2:p.(Pro19583=)	NC_000002.11:g.179458186A>C	(Likely) benign	1 lab	45b2af73ab
6:129637306 LAMA2 C>T	6	129637306	129637306	C	T	LAMA2	c.4048C>T	NM_000426.3	NP_000417.2:p.(Arg1350Ter)	NC_000006.11:g.129637306C>T	(Likely) pathogenic	1 lab	45b67a3bc5
5:112174291 APC C>G	5	112174291	112174291	C	G	APC	c.3000C>G	NM_000038.6	NP_000029.2:p.(Tyr1000Ter)	NC_000005.9:g.112174291C>G	(Likely) pathogenic	1 lab	45b70a4870
5:90151651 ADGRV1 T>G	5	90151651	90151651	T	G	ADGRV1	c.17688T>G	NM_032119.4	NP_115495.3:p.(Tyr5896Ter)	NC_000005.9:g.90151651T>G	(Likely) pathogenic	1 lab	45bbccf3b3
X:18602382 CDKL5 G>A	X	18602382	18602382	G	A	CDKL5	c.464-1G>A	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18602382G>A	(Likely) pathogenic	1 lab	45c0e622e3
4:25158475 SEPSECS T>C	4	25158475	25158475	T	C	SEPSECS	c.388+3A>G	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25158475T>C	(Likely) pathogenic	1 lab	45c3b01534
19:47980963 KPTN C>CG	19	47980963	47980964	C	CG	KPTN				NC_000019.9:g.47980964dup	(Likely) pathogenic	1 lab	4a2ea59ded
2:179484475 TTN A>G	2	179484475	179484475	A	G	TTN	c.46569T>C	NM_001267550.2	NP_001254479.2:p.(Asp15523=)	NC_000002.11:g.179484475A>G	(Likely) benign	1 lab	45c689844b
5:112102978 APC A>G	5	112102978	112102978	A	G	APC	c.313A>G	NM_000038.5	NP_000029.2:p.(Ser105Gly)	NC_000005.9:g.112102978A>G	(Likely) benign	1 lab	45c75da9be
11:78602372 MISSING G>A	11	78602372	78602372	G	A	MISSING				NC_000011.9:g.78602372G>A	VUS	1 lab	45c79a3481
5:112157613 APC C>T	5	112157613	112157613	C	T	APC	c.1333C>T	NM_000038.6	NP_000029.2:p.(Gln445Ter)	NC_000005.9:g.112157613C>T	(Likely) pathogenic	1 lab	45c9b141f0
4:16010575 PROM1 T>C	4	16010575	16010575	T	C	PROM1	c.1298A>G	NM_006017.3	NP_006008.1:p.(Tyr433Cys)	NC_000004.11:g.16010575T>C	VUS	1 lab	45d1bf91f5
2:168114442 XIRP2 A>T	2	168114442	168114442	A	T	XIRP2	c.1485A>T	NM_001199143.1	NP_001186072.1:p.(Gly495=)	NC_000002.11:g.168114442A>T	(Likely) benign	1 lab	45d2a1c99c
3:49459865 AMT CACTT>C	3	49459865	49459871	CACTT	C	AMT	c.15_18del	NM_000481.3	NP_000472.2:p.(Ser6TrpfsTer89)	NC_000003.11:g.49459868_49459871del	(Likely) pathogenic	1 lab	45d433f383
19:2111714 AP3D1 C>T	19	2111714	2111714	C	T	AP3D1	c.2901G>A	NM_001261826.3	NP_001248755.1:p.(Pro967=)	NC_000019.9:g.2111714C>T	(Likely) benign	1 lab	06b3be52a6
17:41256255 BRCA1 T>C	17	41256255	41256255	T	C	BRCA1	c.325A>G	NM_007294.3	NP_009225.1:p.(Lys109Glu)	NC_000017.10:g.41256255T>C	(Likely) benign	1 lab	45d83f670b
10:95557153 LGI1 C>T	10	95557153	95557153	C	T	LGI1	c.1267C>T	NM_005097.3	NP_005088.1:p.(Gln423Ter)	NC_000010.10:g.95557153C>T	(Likely) pathogenic	1 lab	06b4a8e04a
16:23200761 SCNN1G T>C	16	23200761	23200761	T	C	SCNN1G	c.387T>C	NM_001039.3	NP_001030.2:p.(Tyr129=)	NC_000016.9:g.23200761T>C	(Likely) benign	1 lab	45d9cccc4e
15:69728068 KIF23 C>T	15	69728068	69728068	C	T	KIF23	c.1230C>T	NM_138555.3	NP_612565.1:p.(Ile410=)	NC_000015.9:g.69728068C>T	(Likely) benign	1 lab	45da39f004
11:76877143 MYO7A A>T	11	76877143	76877143	A	T	MYO7A	c.1732A>T	NM_000260.3	NP_000251.3:p.(Ile578Phe)	NC_000011.9:g.76877143A>T	VUS	1 lab	45dbfb1e70
6:51612698 PKHD1 C>A	6	51612698	51612698	C	A	PKHD1	c.9716G>T	NM_138694.3	NP_619639.3:p.(Gly3239Val)	NC_000006.11:g.51612698C>A	VUS	1 lab	45dc0b816e
1:92941710 GFI1 T>C	1	92941710	92941710	T	C	GFI1	c.1145A>G	NM_005263.5	NP_005254.2:p.(Asn382Ser)	NC_000001.10:g.92941710T>C	(Likely) pathogenic	1 lab	45e0a44d8c
15:78293982 MISSING G>A	15	78293982	78293982	G	A	MISSING				NC_000015.9:g.78293982G>A	VUS	1 lab	4a2f6b86fd
2:179469989 TTN C>T	2	179469989	179469989	C	T	TTN	c.53915G>A	NM_001267550.1	NP_001254479.1:p.(Arg17972Gln)	NC_000002.11:g.179469989C>T	VUS	1 lab	06b4c416e5
1:151377664 POGZ G>A	1	151377664	151377664	G	A	POGZ	c.3847C>T	NM_015100.3	NP_055915.2:p.(Gln1283Ter)	NC_000001.10:g.151377664G>A	(Likely) pathogenic	1 lab	45e23d3077
13:113777130 F10 C>T	13	113777130	113777130	C	T	F10	c.-40C>T	NM_000504.3	NP_000495.1:p.?	NC_000013.10:g.113777130C>T	(Likely) benign	1 lab	45e52f0c98
6:79657486 PHIP T>A	6	79657486	79657486	T	A	PHIP				NC_000006.11:g.79657486T>A	(Likely) pathogenic	1 lab	45e5318331
7:50595981 DDC G>C	7	50595981	50595981	G	C	DDC	c.571-3C>G	NM_000790.3	NP_000781.1:p.?	NC_000007.13:g.50595981G>C	(Likely) pathogenic	1 lab	45e6422caa
1:145517280 PEX11B C>T	1	145517280	145517280	C	T	PEX11B	c.64C>T	NM_003846.2	NP_003837.1:p.(Gln22Ter)	NC_000001.10:g.145517280C>T	(Likely) pathogenic	1 lab	45e76f9790
7:94035000 COL1A2 C>T	7	94035000	94035000	C	T	COL1A2	c.502C>T	NM_000089.4	NP_000080.2:p.(Pro168Ser)	NC_000007.13:g.94035000C>T	VUS	1 lab	45e9376980
17:41256301 BRCA1 T>C	17	41256301	41256301	T	C	BRCA1	c.302-23A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256301T>C	(Likely) benign	1 lab	45f11aefa7
14:53522380 DDHD1 A>C	14	53522380	53522380	A	C	DDHD1	c.2243T>G	NM_001160148.1	NP_001153620.1:p.(Leu748Ter)	NC_000014.8:g.53522380A>C	(Likely) pathogenic	1 lab	45f20d5b6b
12:4919473 KCNA6 A>G	12	4919473	4919473	A	G	KCNA6	c.266A>G	NM_002235.3	NP_002226.1:p.(Asn89Ser)	NC_000012.11:g.4919473A>G	VUS	1 lab	45f22faf10
2:179504437 TTN C>G	2	179504437	179504437	C	G	TTN	c.40865G>C	NM_001267550.2	NP_001254479.2:p.(Gly13622Ala)	NC_000002.11:g.179504437C>G	VUS	1 lab	45f23f854e
22:29120915 CHEK2 T>A	22	29120915	29120915	T	A	CHEK2	c.592+50A>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29120915T>A	(Likely) benign	1 lab	45f52007d0
6:65300943 EYS G>T	6	65300943	65300943	G	T	EYS	c.4817C>A	NM_001142800.1	NP_001136272.1:p.(Thr1606Asn)	NC_000006.11:g.65300943G>T	VUS	1 lab	45f58788b1
4:155533869 FGG G>GA	4	155533869	155533870	G	GA	FGG	c.-109_-108insT	NM_000509.5	NP_000500.2:p.?	NC_000004.11:g.155533869_155533870insA	(Likely) benign	1 lab	45f5b48d49
11:19203972 CSRP3 A>G	11	19203972	19203972	A	G	CSRP3	c.*245T>C	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19203972A>G	(Likely) benign	1 lab	45f6e074a1
10:103827050 HPS6 C>T	10	103827050	103827050	C	T	HPS6	c.1819C>T	NM_024747.6	NP_079023.2:p.(Arg607Ter)	NC_000010.10:g.103827050C>T	(Likely) pathogenic	1 lab	45f7664cd8
12:9265016 A2M G>C	12	9265016	9265016	G	C	A2M	c.387C>G	NM_001347423.1	NP_001334352.1:p.(Val129=)	NC_000012.11:g.9265016G>C	(Likely) benign	1 lab	45f8d48aa7
11:61205343 SDHAF2 T>C	11	61205343	61205343	T	C	SDHAF2	c.260+23T>C	NM_017841.2	NP_060311.1:p.?	NC_000011.9:g.61205343T>C	(Likely) benign	1 lab	45f9831b90
2:47639583 MSH2 G>T	2	47639583	47639583	G	T	MSH2	c.676G>T	NM_000251.2	NP_000242.1:p.(Glu226Ter)	NC_000002.11:g.47639583G>T	(Likely) pathogenic	1 lab	45fc4f3536
22:29091841 CHEK2 G>A	22	29091841	29091841	G	A	CHEK2	c.1116C>T	NM_007194.4	NP_009125.1:p.(Ser372=)	NC_000022.10:g.29091841G>A	(Likely) benign	1 lab	460148e0ab
3:38608068 SCN5A G>A	3	38608068	38608068	G	A	SCN5A	c.3672C>T	NM_198056.2	NP_932173.1:p.(Phe1224=)	NC_000003.11:g.38608068G>A	(Likely) benign	1 lab	46017671bc
8:102564950 GRHL2 G>A	8	102564950	102564950	G	A	GRHL2	c.224G>A	NM_024915.4	NP_079191.2:p.(Arg75Gln)	NC_000008.10:g.102564950G>A	(Likely) pathogenic	1 lab	46038cdde6
9:127262753 NR5A1 GC>G	9	127262753	127262756	GC	G	NR5A1	c.485del	NM_004959.4	NP_004950.2:p.(Gly162AlafsTer134)	NC_000009.11:g.127262756del	(Likely) pathogenic	1 lab	4606b17b54
12:6059011 VWF G>A	12	6059011	6059011	G	A	VWF	c.8194C>T	NM_000552.3	NP_000543.2:p.(Gln2732Ter)	NC_000012.11:g.6059011G>A	(Likely) pathogenic	1 lab	460905f41a
2:158617525 ACVR1 G>A	2	158617525	158617525	G	A	ACVR1	c.1131C>T	NM_001105.4	NP_001096.1:p.(Gly377=)	NC_000002.11:g.158617525G>A	(Likely) benign	1 lab	4609b65481
16:89335072 ANKRD11 C>G	16	89335072	89335072	C	G	ANKRD11	c.7807-1G>C	NM_013275.5	NP_037407.4:p.?	NC_000016.9:g.89335072C>G	(Likely) pathogenic	1 lab	460bc4edda
2:179576677 TTN C>T	2	179576677	179576677	C	T	TTN	c.27880G>A	NM_001267550.2	NP_001254479.2:p.(Val9294Ile)	NC_000002.11:g.179576677C>T	VUS	1 lab	460c8e9b87
16:86602162 FOXC2 G>C	16	86602162	86602162	G	C	FOXC2	c.1221G>C	NM_005251.3	NP_005242.1:p.(Gln407His)	NC_000016.9:g.86602162G>C	VUS	1 lab	460d9b74ee
3:37092112 MLH1 C>T	3	37092112	37092112	C	T	MLH1	c.2239C>T	NM_000249.3	NP_000240.1:p.(Pro747Ser)	NC_000003.11:g.37092112C>T	VUS	1 lab	460e0693f2
2:74589772 DCTN1 C>A	2	74589772	74589772	C	A	DCTN1	c.3609+5G>T	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74589772C>A	VUS	1 lab	4611ddae1b
3:38640536 SCN5A C>G	3	38640536	38640536	C	G	SCN5A	c.1896G>C	NM_198056.2	NP_932173.1:p.(Thr632=)	NC_000003.11:g.38640536C>G	(Likely) benign	1 lab	4615ae71fa
3:51284209 DOCK3 C>T	3	51284209	51284209	C	T	DOCK3	c.2155C>T	NM_004947.4	NP_004938.1:p.(Arg719Ter)	NC_000003.11:g.51284209C>T	VUS	1 lab	4617d8f991
12:49434097 KMT2D G>A	12	49434097	49434097	G	A	KMT2D	c.7456C>T	NM_003482.3	NP_003473.3:p.(His2486Tyr)	NC_000012.11:g.49434097G>A	VUS	1 lab	46185549ae
11:118007816 SCN4B A>G	11	118007816	118007816	A	G	SCN4B	c.613T>C	NM_174934.3	NP_777594.1:p.(Ser205Pro)	NC_000011.9:g.118007816A>G	VUS	1 lab	461ab3dcbb
2:227945157 COL4A4 A>G	2	227945157	227945157	A	G	COL4A4	c.1803+2T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227945157A>G	(Likely) pathogenic	1 lab	461ae43565
2:189910582 COL5A2 G>A	2	189910582	189910582	G	A	COL5A2	c.3253C>T	NM_000393.3	NP_000384.2:p.(Pro1085Ser)	NC_000002.11:g.189910582G>A	VUS	1 lab	461dec1139
8:72229810 EYA1 GC>G	8	72229810	72229812	GC	G	EYA1	c.532del	NM_000503.5	NP_000494.2:p.(Ala178HisfsTer63)	NC_000008.10:g.72229812del	(Likely) pathogenic	1 lab	4621137482
2:215634204 BARD1 G>A	2	215634204	215634204	G	A	BARD1	c.1315-168C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215634204G>A	(Likely) benign	1 lab	46217da9f7
17:41276140 BRCA1 A>C	17	41276140	41276140	A	C	BRCA1	c.-19-8T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41276140A>C	(Likely) benign	1 lab	462344f652
9:140611474 EHMT1 A>G	9	140611474	140611474	A	G	EHMT1	c.482A>G	NM_024757.4	NP_079033.4:p.(Lys161Arg)	NC_000009.11:g.140611474A>G	(Likely) benign	1 lab	462b2ce5d3
9:138678293 KCNT1 G>A	9	138678293	138678293	G	A	KCNT1	c.3428G>A	NM_020822.2	NP_065873.2:p.(Arg1143His)	NC_000009.11:g.138678293G>A	VUS	1 lab	463160e8e5
13:20763222 GJB2 C>T	13	20763222	20763222	C	T	GJB2	c.499G>A	NM_004004.5	NP_003995.2:p.(Val167Met)	NC_000013.10:g.20763222C>T	VUS	1 lab	46321ff912
10:27389371 ANKRD26 G>A	10	27389371	27389371	G	A	ANKRD26	c.-116C>T	NM_014915.2	NP_055730.2:p.?	NC_000010.10:g.27389371G>A	(Likely) pathogenic	1 lab	4632dd5d83
6:136564000 MTFR2 G>A	6	136564000	136564000	G	A	MTFR2	c.280C>T	NM_001099286.3	NP_001092756.1:p.(Arg94Ter)	NC_000006.11:g.136564000G>A	VUS	1 lab	4635199379
3:38592746 SCN5A T>C	3	38592746	38592746	T	C	SCN5A	c.5117A>G	NM_198056.2	NP_932173.1:p.(Gln1706Arg)	NC_000003.11:g.38592746T>C	VUS	1 lab	4637e96b24
1:76198436 ACADM T>C	1	76198436	76198436	T	C	ACADM	c.228+10T>C	NM_001127328.1	NP_001120800.1:p.?	NC_000001.10:g.76198436T>C	(Likely) benign	1 lab	463e96d994
1:984721 AGRN C>T	1	984721	984721	C	T	AGRN	c.4404C>T	NM_001305275.2	NP_001292204.1:p.(Leu1468=)	NC_000001.10:g.984721C>T	(Likely) benign	1 lab	07fb4995e5
20:56138213 PCK1 C>T	20	56138213	56138213	C	T	PCK1	c.740C>T	NM_002591.4	NP_002582.3:p.(Ala247Val)	NC_000020.10:g.56138213C>T	VUS	1 lab	4640899f99
X:153640412 TAFAZZIN T>C	X	153640412	153640412	T	C	TAFAZZIN	c.110-11T>C	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640412T>C	(Likely) benign	1 lab	464177d125
1:241667546 FH C>T	1	241667546	241667546	C	T	FH	c.905-1G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241667546C>T	(Likely) pathogenic	1 lab	4644620248
3:182755073 MCCC1 G>T	3	182755073	182755073	G	T	MCCC1	c.1527C>A	NM_020166.4	NP_064551.3:p.(Cys509Ter)	NC_000003.11:g.182755073G>T	(Likely) pathogenic	1 lab	46446a3e78
11:1253691 MUC5B C>T	11	1253691	1253691	C	T	MUC5B	c.1855C>T	NM_002458.3	NP_002449.2:p.(Arg619Trp)	NC_000011.9:g.1253691C>T	(Likely) benign	1 lab	06bb1f9bc3
16:86601353 FOXC2 A>G	16	86601353	86601353	A	G	FOXC2	c.412A>G	NM_005251.3	NP_005242.1:p.(Lys138Glu)	NC_000016.9:g.86601353A>G	VUS	1 lab	06bce5d8a0
19:610412 HCN2 C>T	19	610412	610412	C	T	HCN2	c.1584+7C>T	NM_001194.3	NP_001185.3:p.?	NC_000019.9:g.610412C>T	(Likely) benign	1 lab	464a96c497
12:45761452 ANO6 T>C	12	45761452	45761452	T	C	ANO6	c.999-19T>C	NM_001025356.3	NP_001020527.2:p.?	NC_000012.11:g.45761452T>C	(Likely) benign	1 lab	06bdad6bc7
12:23757385 SOX5 GCA>G	12	23757385	23757388	GCA	G	SOX5	c.1098_1099del	NM_006940.4	NP_008871.3:p.(Ala367CysfsTer23)	NC_000012.11:g.23757387_23757388del	(Likely) pathogenic	1 lab	464d6b9a23
8:48689473 PRKDC C>A	8	48689473	48689473	C	A	PRKDC	c.12114G>T	NM_006904.6	NP_008835.5:p.(Trp4038Cys)	NC_000008.10:g.48689473C>A	VUS	1 lab	464d84c80c
18:52896216 TCF4 C>A	18	52896216	52896216	C	A	TCF4	c.1741G>T	NM_001083962.2	NP_001077431.1:p.(Val581Phe)	NC_000018.9:g.52896216C>A	(Likely) pathogenic	1 lab	464d9ec94f
6:7578035 DSP A>G	6	7578035	7578035	A	G	DSP	c.2901A>G	NM_004415.3	NP_004406.2:p.(Ser967=)	NC_000006.11:g.7578035A>G	(Likely) benign	1 lab	46517d78c5
5:137902339 HSPA9 T>C	5	137902339	137902339	T	C	HSPA9	c.948A>G	NM_004134.6	NP_004125.3:p.(Lys316=)	NC_000005.9:g.137902339T>C	(Likely) benign	1 lab	46561ff1c5
2:197084820 HECW2 C>T	2	197084820	197084820	C	T	HECW2	c.4351G>A	NM_020760.2	NP_065811.1:p.(Ala1451Thr)	NC_000002.11:g.197084820C>T	(Likely) pathogenic	1 lab	4657e12f90
X:100609684 BTK T>G	X	100609684	100609684	T	G	BTK	c.1567-2A>C	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100609684T>G	(Likely) pathogenic	1 lab	465ce54d94
3:32201092 GPD1L T>A	3	32201092	32201092	T	A	GPD1L	c.885T>A	NM_015141.3	NP_055956.1:p.(Asn295Lys)	NC_000003.11:g.32201092T>A	(Likely) benign	1 lab	465cf9f364
22:17586610 IL17RA T>G	22	17586610	17586610	T	G	IL17RA	c.943+118T>G	NM_014339.6	NP_055154.3:p.?	NC_000022.10:g.17586610T>G	(Likely) benign	1 lab	64fe55c101
6:152527420 SYNE1 C>T	6	152527420	152527420	C	T	SYNE1				NC_000006.11:g.152527420C>T	(Likely) benign	1 lab	4663ec07ae
1:229622236 NUP133 G>A	1	229622236	229622236	G	A	NUP133	c.1382C>T	NM_018230.3	NP_060700.2:p.(Pro461Leu)	NC_000001.10:g.229622236G>A	(Likely) benign	1 lab	06bfb54c91
1:228468192 OBSCN CAGGCGCTGGCCTCCCTCACCCTCCTATCCCTCCTGCAGTGAAGCCGGTGGTGTTCCTGA>C	1	228468192	228468260	CAGGCGCTGGCCTCCCTCACCCTCCTATCCCTCCTGCAGTGAAGCCGGTGGTGTTCCTGA	C	OBSCN	c.9218-29_9247del	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228468202_228468260del	VUS	1 lab	46668ed8de
4:6290774 WFS1 G>A	4	6290774	6290774	G	A	WFS1	c.376G>A	NM_006005.3	NP_005996.2:p.(Ala126Thr)	NC_000004.11:g.6290774G>A	(Likely) pathogenic	1 lab	466887c701
X:48542681 WAS A>G	X	48542681	48542681	A	G	WAS	c.142A>G	NM_000377.2	NP_000368.1:p.(Thr48Ala)	NC_000023.10:g.48542681A>G	(Likely) pathogenic	1 lab	466a4bad36
7:151329206 PRKAG2 G>A	7	151329206	151329206	G	A	PRKAG2	c.703C>T	NM_016203.4	NP_057287.2:p.(Leu235=)	NC_000007.13:g.151329206G>A	(Likely) benign	1 lab	466fcf9942
1:155257818 PKLR C>T	1	155257818	155257818	C	T	PKLR				NC_000001.10:g.155257818C>T	VUS	1 lab	4670d13d77
X:100497372 DRP2 C>T	X	100497372	100497372	C	T	DRP2	c.887C>T	NM_001939.2	NP_001930.2:p.(Ala296Val)	NC_000023.10:g.100497372C>T	VUS	1 lab	467148eb39
8:61774803 CHD7 C>T	8	61774803	61774803	C	T	CHD7	c.7879C>T	NM_017780.4	NP_060250.2:p.(Arg2627Ter)	NC_000008.10:g.61774803C>T	(Likely) pathogenic	1 lab	46722b4fdc
11:101323798 TRPC6 C>A	11	101323798	101323798	C	A	TRPC6	c.2684G>T	NM_004621.5	NP_004612.2:p.(Arg895Leu)	NC_000011.9:g.101323798C>A	(Likely) pathogenic	1 lab	467b4886e8
1:179520574 NPHS2 C>T	1	179520574	179520574	C	T	NPHS2	c.886G>A	NM_014625.3	NP_055440.1:p.(Glu296Lys)	NC_000001.10:g.179520574C>T	(Likely) pathogenic	1 lab	06c67cb209
20:44599839 ZNF335 G>C	20	44599839	44599839	G	C	ZNF335	c.201+10C>G	NM_022095.3	NP_071378.1:p.?	NC_000020.10:g.44599839G>C	(Likely) benign	1 lab	467dfe8853
10:102019970 CWF19L1 C>T	10	102019970	102019970	C	T	CWF19L1	c.289+5G>A	NM_018294.6	NP_060764.3:p.?	NC_000010.10:g.102019970C>T	(Likely) pathogenic	1 lab	4685af7cfe
16:68772314 CDH1 G>A	16	68772314	68772314	G	A	CDH1	c.163G>A	NM_004360.5	NP_004351.1:p.(Val55Met)	NC_000016.9:g.68772314G>A	(Likely) pathogenic	1 lab	468773ba3a
3:38645212 SCN5A C>T	3	38645212	38645212	C	T	SCN5A	c.1881G>A	NM_198056.2	NP_932173.1:p.(Pro627=)	NC_000003.11:g.38645212C>T	(Likely) benign	1 lab	46885769cd
1:41285921 KCNQ4 A>G	1	41285921	41285921	A	G	KCNQ4	c.1030A>G	NM_004700.3	NP_004691.2:p.(Asn344Asp)	NC_000001.10:g.41285921A>G	VUS	1 lab	468cd492ac
4:15559029 CC2D2A C>T	4	15559029	15559029	C	T	CC2D2A	c.2728C>T	NM_001080522.2	NP_001073991.2:p.(Arg910Ter)	NC_000004.11:g.15559029C>T	(Likely) pathogenic	1 lab	468d655e95
1:231557146 EGLN1 G>T	1	231557146	231557146	G	T	EGLN1	c.489C>A	NM_022051.2	NP_071334.1:p.(Tyr163Ter)	NC_000001.10:g.231557146G>T	(Likely) pathogenic	1 lab	468e27db68
17:42285134 UBTF C>T	17	42285134	42285134	C	T	UBTF	c.1958G>A	NM_014233.4	NP_055048.1:p.(Arg653His)	NC_000017.10:g.42285134C>T	VUS	1 lab	468e448544
10:97402820 ALDH18A1 C>T	10	97402820	97402820	C	T	ALDH18A1	c.232G>A	NM_002860.3	NP_002851.2:p.(Gly78Ser)	NC_000010.10:g.97402820C>T	VUS	1 lab	46931357f9
3:133475722 TF C>T	3	133475722	133475722	C	T	TF	c.739C>T	NM_001063.3	NP_001054.1:p.(Leu247=)	NC_000003.11:g.133475722C>T	(Likely) benign	1 lab	4695f274d7
2:220283412 DES C>T	2	220283412	220283412	C	T	DES	c.228C>T	NM_001927.3	NP_001918.3:p.(Thr76=)	NC_000002.11:g.220283412C>T	(Likely) benign	1 lab	469cb1224f
2:39262427 SOS1 C>G	2	39262427	39262427	C	G	SOS1	c.1000G>C	NM_005633.4	NP_005624.2:p.(Ala334Pro)	NC_000002.11:g.39262427C>G	VUS	1 lab	469f7d6a5d
6:7542283 DSP C>T	6	7542283	7542283	C	T	DSP	c.135C>T	NM_004415.2	NP_004406.2:p.(Arg45=)	NC_000006.11:g.7542283C>T	VUS	1 lab	469f8e2b00
1:152279952 FLG A>T	1	152279952	152279952	A	T	FLG	c.7410T>A	NM_002016.2	NP_002007.1:p.(Ser2470Arg)	NC_000001.10:g.152279952A>T	(Likely) benign	1 lab	46a0266447
2:71742777 DYSF C>T	2	71742777	71742777	C	T	DYSF	c.688C>T	NM_003494.3	NP_003485.1:p.(Arg230Cys)	NC_000002.11:g.71742777C>T	VUS	1 lab	46a24d3953
3:37081682 MLH1 C>T	3	37081682	37081682	C	T	MLH1	c.1564C>T	NM_000249.3	NP_000240.1:p.(Arg522Trp)	NC_000003.11:g.37081682C>T	VUS	1 lab	46ac5cde7a
4:77661801 SHROOM3 C>T	4	77661801	77661801	C	T	SHROOM3	c.2475C>T	NM_020859.3	NP_065910.3:p.(Phe825=)	NC_000004.11:g.77661801C>T	(Likely) benign	1 lab	46b7089635
15:42703406 CAPN3 T>C	15	42703406	42703406	T	C	CAPN3	c.2381-79T>C	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42703406T>C	(Likely) benign	1 lab	676d099622
11:67953394 KMT5B A>T	11	67953394	67953394	A	T	KMT5B	c.162T>A	NM_017635.3	NP_060105.3:p.(Cys54Ter)	NC_000011.9:g.67953394A>T	VUS	1 lab	46baae9b89
8:57079417 PLAG1 C>G	8	57079417	57079417	C	G	PLAG1	c.888G>C	NM_002655.3	NP_002646.2:p.(Gln296His)	NC_000008.10:g.57079417C>G	VUS	1 lab	46bcd0c29e
2:175614810 CHRNA1 C>A	2	175614810	175614810	C	A	CHRNA1	c.941G>T	NM_001039523.2	NP_001034612.1:p.(Ser314Ile)	NC_000002.11:g.175614810C>A	VUS	1 lab	46bdcabb1b
12:48376886 COL2A1 A>G	12	48376886	48376886	A	G	COL2A1	c.2084T>C	NM_001844.5	NP_001835.3:p.(Val695Ala)	NC_000012.11:g.48376886A>G	VUS	1 lab	46ca124261
15:63340800 TPM1 C>T	15	63340800	63340800	C	T	TPM1	c.240+4449C>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63340800C>T	VUS	1 lab	46cc60250c
X:100653455 GLA C>T	X	100653455	100653455	C	T	GLA	c.902G>A	NM_000169.3	NP_000160.1:p.(Arg301Gln)	NC_000023.10:g.100653455C>T	(Likely) pathogenic	1 lab	46ce42718e
12:6442584 TNFRSF1A A>T	12	6442584	6442584	A	T	TNFRSF1A	c.421T>A	NM_001065.3	NP_001056.1:p.(Phe141Ile)	NC_000012.11:g.6442584A>T	(Likely) pathogenic	1 lab	06d0c89785
2:47637356 MSH2 G>T	2	47637356	47637356	G	T	MSH2	c.490G>T	NM_000251.2	NP_000242.1:p.(Gly164Trp)	NC_000002.11:g.47637356G>T	VUS	1 lab	46cf808eae
19:48339526 CRX C>T	19	48339526	48339526	C	T	CRX	c.127C>T	NM_000554.4	NP_000545.1:p.(Arg43Cys)	NC_000019.9:g.48339526C>T	VUS	1 lab	46d002be0d
11:76925040 MYO7A G>A	11	76925040	76925040	G	A	MYO7A	c.6558+16G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76925040G>A	(Likely) benign	1 lab	46d07fd6a8
17:29550553 NF1 AT>A	17	29550553	29550554	AT	A	NF1	c.1814del	NM_000267.3	NP_000258.1:p.(Ile605ThrfsTer26)	NC_000017.10:g.29550554del	(Likely) pathogenic	1 lab	46d255d3c2
6:43010835 CUL7 A>G	6	43010835	43010835	A	G	CUL7	c.3439T>C	NM_014780.5	NP_055595.2:p.(Trp1147Arg)	NC_000006.11:g.43010835A>G	VUS	1 lab	46d2ba1006
12:48372516 COL2A1 G>T	12	48372516	48372516	G	T	COL2A1	c.2759C>A	NM_001844.5	NP_001835.3:p.(Pro920His)	NC_000012.11:g.48372516G>T	VUS	1 lab	46d580460e
16:30098168 TBX6 G>A	16	30098168	30098168	G	A	TBX6	c.844C>T	NM_004608.4	NP_004599.2:p.(Arg282Ter)	NC_000016.9:g.30098168G>A	(Likely) pathogenic	1 lab	46d80c5e45
19:50164069 IRF3 C>T	19	50164069	50164069	C	T	IRF3	c.1015G>A	NM_001197122.1	NP_001184051.1:p.(Gly339Arg)	NC_000019.9:g.50164069C>T	VUS	1 lab	46d8f2a269
11:66291048 BBS1 G>A	11	66291048	66291048	G	A	BBS1	c.951+1G>A	NM_024649.4	NP_078925.3:p.?	NC_000011.9:g.66291048G>A	(Likely) pathogenic	1 lab	46dd06134e
9:2717676 KCNV2 T>G	9	2717676	2717676	T	G	KCNV2	c.-64T>G	NM_133497.3	NP_598004.1:p.?	NC_000009.11:g.2717676T>G	(Likely) benign	1 lab	46deb69f0e
3:121155025 POLQ T>TG	3	121155025	121155027	T	TG	POLQ	c.7486dup	NM_199420.3	NP_955452.3:p.(His2496ProfsTer17)	NC_000003.11:g.121155027dup	VUS	1 lab	46dfc3504f
13:32899468 BRCA2 G>T	13	32899468	32899468	G	T	BRCA2	c.425+147G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32899468G>T	(Likely) benign	1 lab	06d22f9b61
15:42114324 MAPKBP1 G>T	15	42114324	42114324	G	T	MAPKBP1	c.3049+16G>T	NM_001128608.2	NP_001122080.1:p.?	NC_000015.9:g.42114324G>T	(Likely) benign	1 lab	06d2fa0410
16:1507737 CLCN7 G>A	16	1507737	1507737	G	A	CLCN7	c.696C>T	NM_001287.5	NP_001278.1:p.(Ser232=)	NC_000016.9:g.1507737G>A	(Likely) benign	1 lab	46e71ce1cf
9:139405215 NOTCH1 G>A	9	139405215	139405215	G	A	NOTCH1	c.2630C>T	NM_017617.5	NP_060087.3:p.(Pro877Leu)	NC_000009.11:g.139405215G>A	VUS	1 lab	46e7d47d5f
1:215987222 USH2A T>C	1	215987222	215987222	T	C	USH2A				NC_000001.10:g.215987222T>C	(Likely) benign	1 lab	46ecc6883a
2:228102758 COL4A3 T>G	2	228102758	228102758	T	G	COL4A3	c.144+18T>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228102758T>G	(Likely) benign	1 lab	06d5bdd556
2:47708075 MSH2 A>T	2	47708075	47708075	A	T	MSH2	c.2634+65A>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47708075A>T	(Likely) benign	1 lab	46ed444fa5
2:74076623 STAMBP A>G	2	74076623	74076623	A	G	STAMBP	c.867+9A>G	NM_006463.5	NP_006454.1:p.?	NC_000002.11:g.74076623A>G	(Likely) benign	1 lab	06d8add835
13:36886469 SPART T>C	13	36886469	36886469	T	C	SPART	c.1629A>G	NM_015087.4	NP_055902.1:p.(Ala543=)	NC_000013.10:g.36886469T>C	(Likely) benign	1 lab	46ee844eba
16:3789609 CREBBP TATTCTTGGACGTGC>T	16	3789609	3789627	TATTCTTGGACGTGC	T	CREBBP	c.4236_4249del	NM_004380.3	NP_004371.2:p.(Met1412IlefsTer4)	NC_000016.9:g.3789614_3789627del	(Likely) pathogenic	1 lab	46f0abb138
16:46781922 MYLK3 G>A	16	46781922	46781922	G	A	MYLK3	c.184C>T	NM_182493.3	NP_872299.2:p.(Arg62Trp)	NC_000016.9:g.46781922G>A	(Likely) benign	1 lab	06db7fe995
3:189608606 TP63 T>G	3	189608606	189608606	T	G	TP63	c.1681T>G	NM_003722.4	NP_003713.3:p.(Cys561Gly)	NC_000003.11:g.189608606T>G	(Likely) pathogenic	1 lab	46f1b4b492
3:52485552 TNNC1 A>AG	3	52485552	52485557	A	AG	TNNC1	c.318-10dup	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52485557dup	(Likely) benign	1 lab	47136a0ef5
7:128494154 FLNC AGGTGCGGGT>A	7	128494154	128494165	AGGTGCGGGT	A	FLNC	c.6614_6622del	NM_001458.5	NP_001449.3:p.(Val2205_Val2207del)	NC_000007.13:g.128494157_128494165del	(Likely) pathogenic	1 lab	06db8ad9b4
4:126411971 FAT4 T>C	4	126411971	126411971	T	C	FAT4				NC_000004.11:g.126411971T>C	VUS	1 lab	46fb9fb951
X:153583266 FLNA G>A	X	153583266	153583266	G	A	FLNA	c.5120C>T	NM_001456.3	NP_001447.2:p.(Pro1707Leu)	NC_000023.10:g.153583266G>A	VUS	1 lab	46fd5ee2dc
13:113772982 F7 C>T	13	113772982	113772982	C	T	F7	c.1061C>T	NM_000131.4	NP_000122.1:p.(Ala354Val)	NC_000013.10:g.113772982C>T	(Likely) pathogenic	1 lab	46fe8d310e
4:166964546 TLL1 T>C	4	166964546	166964546	T	C	TLL1	c.1499T>C	NM_012464.4	NP_036596.3:p.(Val500Ala)	NC_000004.11:g.166964546T>C	VUS	1 lab	46ff71a9ec
10:73766994 CHST3 CT>C	10	73766994	73766995	CT	C	CHST3	c.206del	NM_004273.5	NP_004264.2:p.(Leu69ArgfsTer3)	NC_000010.10:g.73766995del	(Likely) pathogenic	1 lab	47030ee3a3
18:48581347 SMAD4 T>A	18	48581347	48581347	T	A	SMAD4	c.651T>A	NM_005359.5	NP_005350.1:p.(Ile217=)	NC_000018.9:g.48581347T>A	(Likely) benign	1 lab	47036491fe
15:48813009 FBN1 G>A	15	48813009	48813009	G	A	FBN1	c.994C>T	NM_000138.4	NP_000129.3:p.(Arg332Cys)	NC_000015.9:g.48813009G>A	VUS	1 lab	47060db6c8
1:152276671 FLG C>A	1	152276671	152276671	C	A	FLG	c.10691G>T	NM_002016.1	NP_002007.1:p.(Arg3564Leu)	NC_000001.10:g.152276671C>A	(Likely) benign	1 lab	47068c3084
13:101795422 NALCN A>G	13	101795422	101795422	A	G	NALCN	c.2118+9T>C	NM_052867.3	NP_443099.1:p.?	NC_000013.10:g.101795422A>G	(Likely) benign	1 lab	4707ca8ebe
17:59763248 BRIP1 T>C	17	59763248	59763248	T	C	BRIP1	c.2854A>G	NM_032043.3	NP_114432.2:p.(Ile952Val)	NC_000017.10:g.59763248T>C	VUS	1 lab	470f896036
4:114267044 ANK2 T>G	4	114267044	114267044	T	G	ANK2	c.4249-12T>G	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114267044T>G	(Likely) benign	1 lab	06dc881699
8:143958585 CYP11B1 G>A	8	143958585	143958585	G	A	CYP11B1	c.449C>T	NM_000497.3	NP_000488.3:p.(Ser150Leu)	NC_000008.10:g.143958585G>A	(Likely) pathogenic	1 lab	47130eb055
20:42743516 JPH2 C>T	20	42743516	42743516	C	T	JPH2	c.2011G>A	NM_020433.4	NP_065166.2:p.(Val671Ile)	NC_000020.10:g.42743516C>T	VUS	1 lab	06de386810
3:128623330 ACAD9 C>G	3	128623330	128623330	C	G	ACAD9	c.1131C>G	NM_014049.4	NP_054768.2:p.(Ile377Met)	NC_000003.11:g.128623330C>G	VUS	1 lab	4716e6101b
10:123239412 FGFR2 G>A	10	123239412	123239412	G	A	FGFR2	c.2425C>T	NM_000141.5	NP_000132.3:p.(Leu809Phe)	NC_000010.10:g.123239412G>A	VUS	1 lab	471b1062df
17:7907189 GUCY2D C>T	17	7907189	7907189	C	T	GUCY2D	c.741C>T	NM_000180.3	NP_000171.1:p.(His247=)	NC_000017.10:g.7907189C>T	(Likely) benign	1 lab	471b1c9cae
22:29091037 CHEK2 G>C	22	29091037	29091037	G	C	CHEK2	c.1375+78C>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091037G>C	(Likely) benign	1 lab	4721963b8a
2:179400556 TTN G>T	2	179400556	179400556	G	T	TTN	c.100786C>A	NM_001267550.2	NP_001254479.2:p.(Pro33596Thr)	NC_000002.11:g.179400556G>T	VUS	1 lab	472bbaedae
11:31822379 PAX6 C>T	11	31822379	31822379	C	T	PAX6	c.383G>A	NM_000280.4	NP_000271.1:p.(Arg128His)	NC_000011.9:g.31822379C>T	VUS	1 lab	472cf3f754
11:126316667 KIRREL3 C>T	11	126316667	126316667	C	T	KIRREL3	c.1112G>A	NM_032531.3	NP_115920.1:p.(Arg371Gln)	NC_000011.9:g.126316667C>T	(Likely) benign	1 lab	47339b1657
5:139494105 PURA C>G	5	139494105	139494105	C	G	PURA	c.339C>G	NM_005859.4	NP_005850.1:p.(Tyr113Ter)	NC_000005.9:g.139494105C>G	(Likely) pathogenic	1 lab	4735d2fe5d
14:64545208 SYNE2 T>A	14	64545208	64545208	T	A	SYNE2	c.11047T>A	NM_182914.2	NP_878918.2:p.(Ser3683Thr)	NC_000014.8:g.64545208T>A	(Likely) benign	1 lab	473a0db47d
10:89624263 PTEN A>G	10	89624263	89624263	A	G	PTEN	c.37A>G	NM_000314.4	NP_000305.3:p.(Lys13Glu)	NC_000010.10:g.89624263A>G	(Likely) pathogenic	1 lab	473a3ee3eb
11:108150340 ATM T>C	11	108150340	108150340	T	C	ATM	c.3402+5T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150340T>C	(Likely) benign	1 lab	473aa4e9e9
8:72234026 EYA1 C>T	8	72234026	72234026	C	T	EYA1	c.361G>A	NM_000503.5	NP_000494.2:p.(Ala121Thr)	NC_000008.10:g.72234026C>T	VUS	1 lab	4741364a1f
1:45798993 MUTYH C>A	1	45798993	45798993	C	A	MUTYH	c.352G>T	NM_001128425.1	NP_001121897.1:p.(Glu118Ter)	NC_000001.10:g.45798993C>A	(Likely) pathogenic	1 lab	47443eddb3
19:54656689 CNOT3 C>T	19	54656689	54656689	C	T	CNOT3	c.1990C>T	NM_014516.4	NP_055331.1:p.(Gln664Ter)	NC_000019.9:g.54656689C>T	(Likely) pathogenic	1 lab	4744720403
4:619441 PDE6B G>A	4	619441	619441	G	A	PDE6B	c.26G>A	NM_000283.4	NP_000274.3:p.(Arg9Gln)	NC_000004.11:g.619441G>A	(Likely) benign	1 lab	080adcf2e9
10:69882001 MYPN C>T	10	69882001	69882001	C	T	MYPN	c.806C>T	NM_032578.3	NP_115967.2:p.(Pro269Leu)	NC_000010.10:g.69882001C>T	(Likely) pathogenic	1 lab	47469b95fe
6:32046832 TNXB C>T	6	32046832	32046832	C	T	TNXB	c.4353G>A	NM_019105.8	NP_061978.6:p.(Pro1451=)	NC_000006.11:g.32046832C>T	(Likely) benign	1 lab	06e4baf8e7
2:179455325 TTN A>G	2	179455325	179455325	A	G	TTN	c.61127T>C	NM_001267550.2	NP_001254479.2:p.(Ile20376Thr)	NC_000002.11:g.179455325A>G	VUS	1 lab	474d517e4f
1:228539034 OBSCN C>T	1	228539034	228539034	C	T	OBSCN	c.21303C>T	NM_001271223.2	NP_001258152.2:p.(Asp7101=)	NC_000001.10:g.228539034C>T	(Likely) benign	1 lab	474d9fda2a
15:44876255 SPG11 G>A	15	44876255	44876255	G	A	SPG11	c.5623C>T	NM_025137.3	NP_079413.3:p.(Gln1875Ter)	NC_000015.9:g.44876255G>A	(Likely) pathogenic	1 lab	475088fced
16:71674882 MISSING C>G	16	71674882	71674882	C	G	MISSING				NC_000016.9:g.71674882C>G	(Likely) benign	1 lab	475463f8f8
14:23902769 MYH7 T>C	14	23902769	23902769	T	C	MYH7	c.173A>G	NM_000257.3	NP_000248.2:p.(Lys58Arg)	NC_000014.8:g.23902769T>C	VUS	1 lab	4754d183f0
12:88481663 CEP290 C>A	12	88481663	88481663	C	A	CEP290	c.4088G>T	NM_025114.4	NP_079390.3:p.(Arg1363Leu)	NC_000012.11:g.88481663C>A	(Likely) pathogenic	1 lab	06e644de42
2:26699855 OTOF G>C	2	26699855	26699855	G	C	OTOF	c.2580C>G	NM_194248.2	NP_919224.1:p.(Val860=)	NC_000002.11:g.26699855G>C	(Likely) benign	1 lab	475d7ebd76
6:133777748 EYA4 C>T	6	133777748	133777748	C	T	EYA4	c.332C>T	NM_004100.4	NP_004091.3:p.(Thr111Met)	NC_000006.11:g.133777748C>T	VUS	1 lab	4762046fc0
17:79479808 ACTG1 C>T	17	79479808	79479808	C	T	ACTG1				NC_000017.10:g.79479808C>T	(Likely) benign	1 lab	476598787d
15:93496729 CHD2 C>T	15	93496729	93496729	C	T	CHD2	c.1645C>T	NM_001271.4	NP_001262.3:p.(Gln549Ter)	NC_000015.9:g.93496729C>T	(Likely) pathogenic	1 lab	4767d67b52
1:103496727 COL11A1 T>C	1	103496727	103496727	T	C	COL11A1	c.725A>G	NM_080629.2	NP_542196.2:p.(Asp242Gly)	NC_000001.10:g.103496727T>C	VUS	1 lab	4768c5cfcf
2:241723181 KIF1A G>A	2	241723181	241723181	G	A	KIF1A	c.773C>T	NM_001244008.1	NP_001230937.1:p.(Thr258Met)	NC_000002.11:g.241723181G>A	(Likely) pathogenic	1 lab	4769950c39
10:101989172 CHUK C>T	10	101989172	101989172	C	T	CHUK	c.105+13G>A	NM_001278.5	NP_001269.3:p.?	NC_000010.10:g.101989172C>T	(Likely) benign	1 lab	06e71ddcd5
3:49929234 MST1R GTCTA>G	3	49929234	49929239	GTCTA	G	MST1R	c.3305_3308del	NM_002447.4	NP_002438.2:p.(Ile1102ThrfsTer14)	NC_000003.11:g.49929236_49929239del	VUS	1 lab	4770ea9818
13:32907147 BRCA2 C>T	13	32907147	32907147	C	T	BRCA2	c.1532C>T	NM_000059.4	NP_000050.3:p.(Ser511Leu)	NC_000013.10:g.32907147C>T	(Likely) benign	1 lab	4771214236
3:38690905 SCN5A C>CAGG	3	38690905	38690908	C	CAGG	SCN5A	c.-53+114_-53+116dup	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38690906_38690908dup	(Likely) benign	1 lab	47725d15e8
3:49083910 QRICH1 C>T	3	49083910	49083910	C	T	QRICH1	c.1619G>A	NM_017730.4	NP_060200.2:p.(Gly540Asp)	NC_000003.11:g.49083910C>T	(Likely) benign	1 lab	4773d26759
2:179455521 TTN G>A	2	179455521	179455521	G	A	TTN	c.60931C>T	NM_001267550.2	NP_001254479.2:p.(Arg20311Ter)	NC_000002.11:g.179455521G>A	(Likely) pathogenic	1 lab	47779da013
2:86259443 POLR1A C>T	2	86259443	86259443	C	T	POLR1A	c.4224G>A	NM_015425.3	NP_056240.2:p.(Gly1408=)	NC_000002.11:g.86259443C>T	(Likely) benign	1 lab	477aeaf64d
17:42449759 ITGA2B CA>C	17	42449759	42449760	CA	C	ITGA2B	c.3092del	NM_000419.5	NP_000410.2:p.(Leu1031ArgfsTer?)	NC_000017.10:g.42449760del	(Likely) pathogenic	1 lab	477b89f3ef
1:216373450 USH2A G>A	1	216373450	216373450	G	A	USH2A	c.3330C>T	NM_206933.2	NP_996816.2:p.(Phe1110=)	NC_000001.10:g.216373450G>A	(Likely) benign	1 lab	4786da34d9
16:56899164 SLC12A3 C>T	16	56899164	56899164	C	T	SLC12A3	c.17C>T	NM_000339.2	NP_000330.2:p.(Thr6Ile)	NC_000016.9:g.56899164C>T	VUS	1 lab	478dc1b137
3:48602578 COL7A1 C>A	3	48602578	48602578	C	A	COL7A1	c.8584G>T	NM_000094.3	NP_000085.1:p.(Glu2862Ter)	NC_000003.11:g.48602578C>A	(Likely) pathogenic	1 lab	478e441f98
11:68207364 LRP5 A>C	11	68207364	68207364	A	C	LRP5	c.4468A>C	NM_002335.3	NP_002326.2:p.(Lys1490Gln)	NC_000011.9:g.68207364A>C	VUS	1 lab	4790964937
19:6678454 C3 C>T	19	6678454	6678454	C	T	C3	c.4643G>A	NM_000064.3	NP_000055.2:p.(Arg1548Gln)	NC_000019.9:g.6678454C>T	VUS	1 lab	4792d63873
1:241680486 FH A>T	1	241680486	241680486	A	T	FH	c.263T>A	NM_000143.3	NP_000134.2:p.(Met88Lys)	NC_000001.10:g.241680486A>T	VUS	1 lab	479591dc16
8:143957786 CYP11B1 A>G	8	143957786	143957786	A	G	CYP11B1	c.825T>C	NM_000497.3	NP_000488.3:p.(Tyr275=)	NC_000008.10:g.143957786A>G	(Likely) benign	1 lab	06e7def47c
19:35524495 SCN1B C>T	19	35524495	35524495	C	T	SCN1B	c.300C>T	NM_001037.4	NP_001028.1:p.(Asp100=)	NC_000019.9:g.35524495C>T	(Likely) benign	1 lab	479a5c8708
5:118810101 HSD17B4 G>T	5	118810101	118810101	G	T	HSD17B4	c.226G>T	NM_000414.3	NP_000405.1:p.(Val76Leu)	NC_000005.9:g.118810101G>T	(Likely) pathogenic	1 lab	47a09edd0c
5:141336241 PCDH12 C>T	5	141336241	141336241	C	T	PCDH12	c.1176G>A	NM_016580.3	NP_057664.1:p.(Trp392Ter)	NC_000005.9:g.141336241C>T	(Likely) pathogenic	1 lab	47a0fc20e4
19:1220578 STK11 A>C	19	1220578	1220578	A	C	STK11	c.598-2A>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220578A>C	(Likely) pathogenic	1 lab	47a382a5e8
2:219920576 IHH C>T	2	219920576	219920576	C	T	IHH	c.589G>A	NM_002181.4	NP_002172.2:p.(Ala197Thr)	NC_000002.11:g.219920576C>T	VUS	1 lab	47aaf85c96
17:1587828 PRPF8 G>A	17	1587828	1587828	G	A	PRPF8	c.38C>T	NM_006445.3	NP_006436.3:p.(Pro13Leu)	NC_000017.10:g.1587828G>A	(Likely) benign	1 lab	47ac4feb04
1:55464942 BSND A>G	1	55464942	55464942	A	G	BSND	c.83A>G	NM_057176.2	NP_476517.1:p.(His28Arg)	NC_000001.10:g.55464942A>G	VUS	1 lab	47b3b58f79
8:42046568 PLAT G>A	8	42046568	42046568	G	A	PLAT	c.137C>T	NM_000930.4	NP_000921.1:p.(Thr46Met)	NC_000008.10:g.42046568G>A	VUS	1 lab	47b3d5ce4a
5:138148000 CTNNA1 A>G	5	138148000	138148000	A	G	CTNNA1	c.588+9A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138148000A>G	(Likely) benign	1 lab	47b4b8ae42
15:23049212 NIPA1 C>T	15	23049212	23049212	C	T	NIPA1	c.607G>A	NM_144599.5	NP_653200.2:p.(Val203Met)	NC_000015.9:g.23049212C>T	VUS	1 lab	47b6bffb8b
11:17613077 OTOG G>A	11	17613077	17613077	G	A	OTOG				NC_000011.9:g.17613077G>A	VUS	1 lab	47bb7a520f
22:38512141 PLA2G6 G>GT	22	38512141	38512144	G	GT	PLA2G6	c.1819dup	NM_003560.2	NP_003551.2:p.(Thr607AsnfsTer12)	NC_000022.10:g.38512144dup	(Likely) pathogenic	1 lab	47bcc37d60
17:65914879 BPTF C>T	17	65914879	65914879	C	T	BPTF	c.5731C>T	NM_004459.6	NP_004450.3:p.(Arg1911Trp)	NC_000017.10:g.65914879C>T	VUS	1 lab	47bcd9f9f1
17:7906037 GUCY2D GC>G	17	7906037	7906042	GC	G	GUCY2D	c.-20del	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7906042del	(Likely) benign	1 lab	47bf08e96e
3:186944286 MASP1 G>A	3	186944286	186944286	G	A	MASP1	c.1464C>T	NM_001879.5	NP_001870.3:p.(Ala488=)	NC_000003.11:g.186944286G>A	(Likely) benign	1 lab	06ea136b49
17:33434303 RAD51D G>A	17	33434303	33434303	G	A	RAD51D	c.345+82C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33434303G>A	(Likely) benign	1 lab	47c88fad90
4:155490820 FGB A>G	4	155490820	155490820	A	G	FGB	c.1113A>G	NM_005141.4	NP_005132.2:p.(Ser371=)	NC_000004.11:g.155490820A>G	(Likely) benign	1 lab	47ca80e40a
4:1801115 FGFR3 G>A	4	1801115	1801115	G	A	FGFR3	c.244G>A	NM_001163213.1	NP_001156685.1:p.(Val82Met)	NC_000004.11:g.1801115G>A	VUS	1 lab	47cc5aa08d
20:3063406 AVP C>T	20	3063406	3063406	C	T	AVP	c.365G>A	NM_000490.4	NP_000481.2:p.(Arg122His)	NC_000020.10:g.3063406C>T	(Likely) benign	1 lab	47cfdaf69c
7:81593680 CACNA2D1 T>G	7	81593680	81593680	T	G	CACNA2D1	c.2575-5A>C	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81593680T>G	(Likely) benign	1 lab	47cfe18e65
14:61115574 SIX1 G>C	14	61115574	61115574	G	C	SIX1	c.334C>G	NM_005982.3	NP_005973.1:p.(Arg112Gly)	NC_000014.8:g.61115574G>C	(Likely) pathogenic	1 lab	47d30fe69b
14:104464964 TDRD9 T>C	14	104464964	104464964	T	C	TDRD9	c.1382T>C	NM_153046.3	NP_694591.2:p.(Ile461Thr)	NC_000014.8:g.104464964T>C	VUS	1 lab	47d35af5ff
2:227920743 COL4A4 A>T	2	227920743	227920743	A	T	COL4A4	c.2634T>A	NM_000092.4	NP_000083.3:p.(Pro878=)	NC_000002.11:g.227920743A>T	(Likely) benign	1 lab	47d6627b4a
12:48391975 COL2A1 C>T	12	48391975	48391975	C	T	COL2A1	c.319G>A	NM_001844.4	NP_001835.3:p.(Gly107Arg)	NC_000012.11:g.48391975C>T	(Likely) benign	1 lab	47d6d32fc4
17:41226642 BRCA1 A>C	17	41226642	41226642	A	C	BRCA1	c.4485-104T>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226642A>C	(Likely) benign	1 lab	47d6f9013e
2:228176901 COL4A3 A>C	2	228176901	228176901	A	C	COL4A3	c.*315A>C	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228176901A>C	(Likely) benign	1 lab	47d77f394f
17:18047270 MYO15A A>T	17	18047270	18047270	A	T	MYO15A	c.6133A>T	NM_016239.4	NP_057323.3:p.(Ile2045Phe)	NC_000017.10:g.18047270A>T	VUS	1 lab	47de9ddfea
22:50705362 MAPK11 C>T	22	50705362	50705362	C	T	MAPK11	c.610+1G>A	NM_002751.6	NP_002742.3:p.?	NC_000022.10:g.50705362C>T	VUS	1 lab	47e1b193c4
3:52488027 TNNC1 T>A	3	52488027	52488027	T	A	TNNC1	c.5A>T	NM_003280.2	NP_003271.1:p.(Asp2Val)	NC_000003.11:g.52488027T>A	VUS	1 lab	47ee233ad0
12:13768552 GRIN2B C>T	12	13768552	13768552	C	T	GRIN2B	c.1375G>A	NM_000834.3	NP_000825.2:p.(Gly459Arg)	NC_000012.11:g.13768552C>T	(Likely) pathogenic	1 lab	47f124cff0
14:24723898 TGM1 C>T	14	24723898	24723898	C	T	TGM1	c.2060G>A	NM_000359.2	NP_000350.1:p.(Arg687His)	NC_000014.8:g.24723898C>T	(Likely) pathogenic	1 lab	47f24f1297
5:161302589 GABRA1 C>T	5	161302589	161302589	C	T	GABRA1	c.500C>T	NM_001127644.2	NP_001121116.1:p.(Pro167Leu)	NC_000005.9:g.161302589C>T	VUS	1 lab	47f297954f
2:109397795 RANBP2 C>T	2	109397795	109397795	C	T	RANBP2	c.8670C>T	NM_006267.4	NP_006258.3:p.(Ala2890=)	NC_000002.11:g.109397795C>T	(Likely) benign	1 lab	06f7b8c269
10:135180441 ECHS1 T>C	10	135180441	135180441	T	C	ECHS1	c.571A>G	NM_004092.3	NP_004083.3:p.(Met191Val)	NC_000010.10:g.135180441T>C	VUS	1 lab	47fc214699
2:46605083 EPAS1 C>T	2	46605083	46605083	C	T	EPAS1	c.1300C>T	NM_001430.5	NP_001421.2:p.(Pro434Ser)	NC_000002.11:g.46605083C>T	(Likely) benign	1 lab	47ff66ca60
4:114280302 ANK2 G>T	4	114280302	114280302	G	T	ANK2	c.10528G>T	NM_001148.5	NP_001139.3:p.(Ala3510Ser)	NC_000004.11:g.114280302G>T	(Likely) benign	1 lab	480451941f
19:15659981 CYP4F22 C>T	19	15659981	15659981	C	T	CYP4F22	c.1303C>T	NM_173483.3	NP_775754.2:p.(His435Tyr)	NC_000019.9:g.15659981C>T	(Likely) pathogenic	1 lab	480e05c7cc
14:23899798 MYH7 C>T	14	23899798	23899798	C	T	MYH7	c.970G>A	NM_000257.3	NP_000248.2:p.(Asp324Asn)	NC_000014.8:g.23899798C>T	VUS	1 lab	480f0506c1
19:55668458 TNNI3 G>C	19	55668458	55668458	G	C	TNNI3	c.68C>G	NM_000363.4	NP_000354.4:p.(Ser23Cys)	NC_000019.9:g.55668458G>C	VUS	1 lab	06fc530f75
9:139390397 NOTCH1 C>T	9	139390397	139390397	C	T	NOTCH1	c.*126G>A	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139390397C>T	(Likely) benign	1 lab	481024b30f
12:48368541 COL2A1 C>T	12	48368541	48368541	C	T	COL2A1	c.3991G>A	NM_001844.4	NP_001835.3:p.(Val1331Ile)	NC_000012.11:g.48368541C>T	(Likely) benign	1 lab	48107ffa7e
17:18023210 MYO15A G>A	17	18023210	18023210	G	A	MYO15A	c.1096G>A	NM_016239.3	NP_057323.3:p.(Val366Ile)	NC_000017.10:g.18023210G>A	VUS	1 lab	48166e60f0
1:103444616 COL11A1 C>T	1	103444616	103444616	C	T	COL11A1	c.2655G>A	NM_001854.4	NP_001845.3:p.(Thr885=)	NC_000001.10:g.103444616C>T	VUS	1 lab	4816ff48fd
2:20113954 WDR35 G>A	2	20113954	20113954	G	A	WDR35	c.3239C>T	NM_001006657.1	NP_001006658.1:p.(Ala1080Val)	NC_000002.11:g.20113954G>A	VUS	1 lab	4818e85616
14:81610464 TSHR G>A	14	81610464	81610464	G	A	TSHR	c.2062G>A	NM_000369.5	NP_000360.2:p.(Asp688Asn)	NC_000014.8:g.81610464G>A	VUS	1 lab	081fa2c93a
6:112493944 LAMA4 C>T	6	112493944	112493944	C	T	LAMA4	c.1420G>A	NM_001105206.2	NP_001098676.2:p.(Val474Ile)	NC_000006.11:g.112493944C>T	(Likely) benign	1 lab	4819237af7
11:10785427 CTR9 G>A	11	10785427	10785427	G	A	CTR9	c.1194+1G>A	NM_014633.5	NP_055448.1:p.?	NC_000011.9:g.10785427G>A	(Likely) pathogenic	1 lab	481ba16eed
17:16843708 TNFRSF13B T>A	17	16843708	16843708	T	A	TNFRSF13B	c.563A>T	NM_012452.2	NP_036584.1:p.(Lys188Met)	NC_000017.10:g.16843708T>A	(Likely) benign	1 lab	06fc5c7aab
12:110029186 MVK G>A	12	110029186	110029186	G	A	MVK	c.885+24G>A	NM_000431.2	NP_000422.1:p.?	NC_000012.11:g.110029186G>A	(Likely) benign	1 lab	071f8e0e1e
17:59857651 BRIP1 C>T	17	59857651	59857651	C	T	BRIP1	c.1906G>A	NM_032043.3	NP_114432.2:p.(Glu636Lys)	NC_000017.10:g.59857651C>T	VUS	1 lab	481e63a252
4:110670807 CFI G>C	4	110670807	110670807	G	C	CFI	c.941-49C>G	NM_000204.4	NP_000195.2:p.?	NC_000004.11:g.110670807G>C	(Likely) benign	1 lab	482261ee8b
6:42689491 PRPH2 C>G	6	42689491	42689491	C	G	PRPH2	c.581+1G>C	NM_000322.5	NP_000313.2:p.?	NC_000006.11:g.42689491C>G	(Likely) pathogenic	1 lab	4824749730
17:57775069 PTRH2 CAG>C	17	57775069	57775071	CAG	C	PTRH2	c.269_270del	NM_016077.4	NP_057161.1:p.(Ala90GlyfsTer13)	NC_000017.10:g.57775070_57775071del	(Likely) pathogenic	1 lab	482604feba
2:179567330 TTN G>A	2	179567330	179567330	G	A	TTN	c.30284C>T	NM_001267550.2	NP_001254479.2:p.(Ala10095Val)	NC_000002.11:g.179567330G>A	VUS	1 lab	482d76cc51
1:94544960 ABCA4 G>A	1	94544960	94544960	G	A	ABCA4	c.1157C>T	NM_000350.2	NP_000341.2:p.(Ala386Val)	NC_000001.10:g.94544960G>A	VUS	1 lab	482d989831
2:179516869 TTN C>T	2	179516869	179516869	C	T	TTN	c.39249G>A	NM_001267550.1	NP_001254479.1:p.(Lys13083=)	NC_000002.11:g.179516869C>T	(Likely) benign	1 lab	482e7633b9
2:48027026 MSH6 G>T	2	48027026	48027026	G	T	MSH6	c.1904G>T	NM_000179.2	NP_000170.1:p.(Arg635Ile)	NC_000002.11:g.48027026G>T	VUS	1 lab	4838edade0
7:144097288 NOBOX GC>G	7	144097288	144097293	GC	G	NOBOX				NC_000007.13:g.144097293del	(Likely) pathogenic	1 lab	48390e3626
19:11546949 PRKCSH C>CGCT	19	11546949	11546964	C	CGCT	PRKCSH	c.24_26dup	NM_002743.3	NP_002734.2:p.(Leu9dup)	NC_000019.9:g.11546962_11546964dup	(Likely) benign	1 lab	06fc7dd226
11:76919771 MYO7A T>A	11	76919771	76919771	T	A	MYO7A	c.5974T>A	NM_000260.3	NP_000251.3:p.(Phe1992Ile)	NC_000011.9:g.76919771T>A	VUS	1 lab	4841f69c60
12:52188157 SCN8A C>CA	12	52188157	52188161	C	CA	SCN8A	c.4531dup	NM_014191.3	NP_055006.1:p.(Ile1511AsnfsTer7)	NC_000012.11:g.52188161dup	(Likely) pathogenic	1 lab	4842d3d713
1:6155668 KCNAB2 CAA>C	1	6155668	6155670	CAA	C	KCNAB2				NC_000001.10:g.6155669_6155670del	VUS	1 lab	484658791d
2:86316948 POLR1A T>G	2	86316948	86316948	T	G	POLR1A	c.537A>C	NM_015425.3	NP_056240.2:p.(Ala179=)	NC_000002.11:g.86316948T>G	(Likely) benign	1 lab	484724fc59
9:2110275 SMARCA2 G>A	9	2110275	2110275	G	A	SMARCA2	c.3314G>A	NM_003070.4	NP_003061.3:p.(Arg1105His)	NC_000009.11:g.2110275G>A	(Likely) pathogenic	1 lab	48484fd7b0
2:32379489 SPAST T>A	2	32379489	32379489	T	A	SPAST	c.1775T>A	NM_014946.3	NP_055761.2:p.(Ile592Lys)	NC_000002.11:g.32379489T>A	(Likely) pathogenic	1 lab	4848f8a56a
2:48027400 MSH6 G>T	2	48027400	48027400	G	T	MSH6	c.2278G>T	NM_000179.2	NP_000170.1:p.(Glu760Ter)	NC_000002.11:g.48027400G>T	(Likely) pathogenic	1 lab	484c5d6395
7:114299675 FOXP2 AG>A	7	114299675	114299676	AG	A	FOXP2	c.1595del	NM_014491.4	NP_055306.1:p.(Ser532ThrfsTer34)	NC_000007.13:g.114299676del	(Likely) pathogenic	1 lab	484e7fcb4f
19:52715979 PPP2R1A C>T	19	52715979	52715979	C	T	PPP2R1A	c.544C>T	NM_014225.5	NP_055040.2:p.(Arg182Trp)	NC_000019.9:g.52715979C>T	(Likely) pathogenic	1 lab	06feb1ba36
8:31014983 WRN G>A	8	31014983	31014983	G	A	WRN	c.3919G>A	NM_000553.4	NP_000544.2:p.(Gly1307Ser)	NC_000008.10:g.31014983G>A	VUS	1 lab	485aa13ee7
2:179418436 TTN C>A	2	179418436	179418436	C	A	TTN	c.89296G>T	NM_001267550.2	NP_001254479.2:p.(Val29766Phe)	NC_000002.11:g.179418436C>A	(Likely) benign	1 lab	485ab9ee3f
3:193360561 OPA1 T>A	3	193360561	193360561	T	A	OPA1	c.1157T>A	NM_130837.2	NP_570850.2:p.(Leu386Gln)	NC_000003.11:g.193360561T>A	(Likely) pathogenic	1 lab	485fde081a
X:30687589 GK G>A	X	30687589	30687589	G	A	GK	c.259+1354G>A	NM_000167.5	NP_000158.1:p.?	NC_000023.10:g.30687589G>A	(Likely) benign	1 lab	4860159238
2:227912170 COL4A4 A>G	2	227912170	227912170	A	G	COL4A4	c.3289+21T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227912170A>G	(Likely) benign	1 lab	4860d86f78
17:41256153 BRCA1 C>T	17	41256153	41256153	C	T	BRCA1	c.427G>A	NM_007294.3	NP_009225.1:p.(Glu143Lys)	NC_000017.10:g.41256153C>T	(Likely) benign	1 lab	486329330c
1:78435621 FUBP1 A>C	1	78435621	78435621	A	C	FUBP1	c.199T>G	NM_001303433.1	NP_001290362.1:p.(Leu67Val)	NC_000001.10:g.78435621A>C	VUS	1 lab	4864206556
7:44180691 MYL7 G>C	7	44180691	44180691	G	C	MYL7	c.4-18C>G	NM_021223.2	NP_067046.1:p.?	NC_000007.13:g.44180691G>C	VUS	1 lab	4864a576ee
10:88679060 BMPR1A T>A	10	88679060	88679060	T	A	BMPR1A	c.1000T>A	NM_004329.2	NP_004320.2:p.(Leu334Met)	NC_000010.10:g.88679060T>A	VUS	1 lab	48653f1a7e
19:35523454 SCN1B C>T	19	35523454	35523454	C	T	SCN1B	c.63C>T	NM_199037.5	NP_950238.1:p.(Cys21=)	NC_000019.9:g.35523454C>T	(Likely) benign	1 lab	4866c04529
2:179559371 TTN T>G	2	179559371	179559371	T	G	TTN	c.31381A>C	NM_001267550.2	NP_001254479.2:p.(Lys10461Gln)	NC_000002.11:g.179559371T>G	VUS	1 lab	486708cf07
7:44283125 CAMK2B G>A	7	44283125	44283125	G	A	CAMK2B	c.416C>T	NM_001220.5	NP_001211.3:p.(Pro139Leu)	NC_000007.13:g.44283125G>A	(Likely) pathogenic	1 lab	486a2c28db
20:33575435 MYH7B G>A	20	33575435	33575435	G	A	MYH7B	c.1349G>A	NM_020884.4	NP_065935.3:p.(Arg450His)	NC_000020.10:g.33575435G>A	(Likely) benign	1 lab	486ce0328c
9:140040320 GRIN1 G>A	9	140040320	140040320	G	A	GRIN1	c.536G>A	NM_001185090.1	NP_001172019.1:p.(Arg179His)	NC_000009.11:g.140040320G>A	VUS	1 lab	486eeccce2
13:32936682 BRCA2 G>A	13	32936682	32936682	G	A	BRCA2	c.7828G>A	NM_000059.3	NP_000050.2:p.(Val2610Met)	NC_000013.10:g.32936682G>A	VUS	1 lab	4870183d21
10:88476492 LDB3 G>A	10	88476492	88476492	G	A	LDB3	c.1640G>A	NM_007078.2	NP_009009.1:p.(Arg547Gln)	NC_000010.10:g.88476492G>A	VUS	1 lab	487dee2066
17:76120809 TMC6 C>T	17	76120809	76120809	C	T	TMC6	c.687G>A	NM_007267.6	NP_009198.4:p.(Pro229=)	NC_000017.10:g.76120809C>T	(Likely) benign	1 lab	0706acdb3f
1:150485712 ECM1 G>T	1	150485712	150485712	G	T	ECM1	c.1393-1G>T	NM_004425.3	NP_004416.2:p.?	NC_000001.10:g.150485712G>T	(Likely) pathogenic	1 lab	487e92d1ef
17:48248033 SGCA T>G	17	48248033	48248033	T	G	SGCA	c.983+6T>G	NM_000023.2	NP_000014.1:p.?	NC_000017.10:g.48248033T>G	VUS	1 lab	487f8246f8
22:51115048 MISSING A>T	22	51115048	51115048	A	T	MISSING				NC_000022.10:g.51115048A>T	VUS	1 lab	4881074f8c
17:41244494 BRCA1 G>A	17	41244494	41244494	G	A	BRCA1	c.3054C>T	NM_007294.3	NP_009225.1:p.(Asn1018=)	NC_000017.10:g.41244494G>A	(Likely) benign	1 lab	48817601ad
16:9934563 GRIN2A G>A	16	9934563	9934563	G	A	GRIN2A	c.1592C>T	NM_000833.5	NP_000824.1:p.(Thr531Met)	NC_000016.9:g.9934563G>A	(Likely) pathogenic	1 lab	070a0a993c
12:6125363 VWF A>C	12	6125363	6125363	A	C	VWF	c.5347T>G	NM_000552.3	NP_000543.2:p.(Ser1783Ala)	NC_000012.11:g.6125363A>C	VUS	1 lab	488ae551c3
8:61591436 CHD7 C>T	8	61591436	61591436	C	T	CHD7				NC_000008.10:g.61591436C>T	(Likely) benign	1 lab	488b192588
11:108199798 ATM A>G	11	108199798	108199798	A	G	ATM	c.7140A>G	NM_000051.3	NP_000042.3:p.(Arg2380=)	NC_000011.9:g.108199798A>G	(Likely) benign	1 lab	488b50490b
1:228412168 OBSCN G>A	1	228412168	228412168	G	A	OBSCN	c.2938G>A	NM_001271223.2	NP_001258152.2:p.(Val980Met)	NC_000001.10:g.228412168G>A	(Likely) benign	1 lab	488edfe1bf
18:29126333 DSG2 A>T	18	29126333	29126333	A	T	DSG2	c.2984A>T	NM_001943.4	NP_001934.2:p.(His995Leu)	NC_000018.9:g.29126333A>T	(Likely) benign	1 lab	488f1a0dba
5:112116592 APC C>T	5	112116592	112116592	C	T	APC	c.637C>T	NM_000038.5	NP_000029.2:p.(Arg213Ter)	NC_000005.9:g.112116592C>T	(Likely) pathogenic	1 lab	4890e23ef2
3:49161979 LAMB2 TCA>T	3	49161979	49161983	TCA	T	LAMB2	c.3174_3175del	NM_002292.3	NP_002283.3:p.(Cys1058Ter)	NC_000003.11:g.49161982_49161983del	(Likely) pathogenic	1 lab	4892603312
17:39925847 JUP G>A	17	39925847	39925847	G	A	JUP	c.291C>T	NM_002230.3	NP_002221.1:p.(Asp97=)	NC_000017.10:g.39925847G>A	(Likely) benign	1 lab	4892719b6d
12:6680118 CHD4 G>A	12	6680118	6680118	G	A	CHD4	c.5638C>T	NM_001273.5	NP_001264.2:p.(Pro1880Ser)	NC_000012.11:g.6680118G>A	(Likely) pathogenic	1 lab	4896345314
19:54304615 NLRP12 G>A	19	54304615	54304615	G	A	NLRP12	c.2622C>T	NM_144687.4	NP_653288.1:p.(Asp874=)	NC_000019.9:g.54304615G>A	(Likely) benign	1 lab	070a742e54
13:32906979 BRCA2 C>G	13	32906979	32906979	C	G	BRCA2	c.1364C>G	NM_000059.3	NP_000050.2:p.(Ser455Ter)	NC_000013.10:g.32906979C>G	(Likely) pathogenic	1 lab	48a1a5edf9
2:228012183 COL4A4 A>G	2	228012183	228012183	A	G	COL4A4	c.17T>C	NM_000092.4	NP_000083.3:p.(Ile6Thr)	NC_000002.11:g.228012183A>G	(Likely) benign	1 lab	48a3583928
9:107599387 ABCA1 G>C	9	107599387	107599387	G	C	ABCA1	c.1195-10C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599387G>C	VUS	1 lab	0963400192
6:133769264 EYA4 T>A	6	133769264	133769264	T	A	EYA4	c.224T>A	NM_004100.5	NP_004091.3:p.(Val75Asp)	NC_000006.11:g.133769264T>A	(Likely) benign	1 lab	48a3999220
10:72358248 PRF1 C>G	10	72358248	72358248	C	G	PRF1	c.1229G>C	NM_001083116.1	NP_001076585.1:p.(Arg410Pro)	NC_000010.10:g.72358248C>G	VUS	1 lab	48a406bd56
10:92678614 ANKRD1 A>G	10	92678614	92678614	A	G	ANKRD1	c.453+8T>C	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92678614A>G	(Likely) benign	1 lab	48a59ac4bd
6:133783615 EYA4 G>A	6	133783615	133783615	G	A	EYA4	c.580G>A	NM_004100.5	NP_004091.3:p.(Asp194Asn)	NC_000006.11:g.133783615G>A	(Likely) pathogenic	1 lab	48a844d5ef
13:32972495 BRCA2 C>T	13	32972495	32972495	C	T	BRCA2	c.9845C>T	NM_000059.3	NP_000050.2:p.(Pro3282Leu)	NC_000013.10:g.32972495C>T	(Likely) benign	1 lab	48a8cfdf10
17:41277389 BRCA1 C>G	17	41277389	41277389	C	G	BRCA1	c.-121G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277389C>G	(Likely) benign	1 lab	48aaa967b8
17:41247917 BRCA1 G>A	17	41247917	41247917	G	A	BRCA1	c.616C>T	NM_007294.3	NP_009225.1:p.(Gln206Ter)	NC_000017.10:g.41247917G>A	(Likely) pathogenic	1 lab	48ac96064e
2:179439710 TTN C>A	2	179439710	179439710	C	A	TTN	c.71149G>T	NM_001267550.2	NP_001254479.2:p.(Asp23717Tyr)	NC_000002.11:g.179439710C>A	VUS	1 lab	48afa34b32
10:64573246 MISSING G>T	10	64573246	64573246	G	T	MISSING				NC_000010.10:g.64573246G>T	VUS	1 lab	48b55bd98a
11:61544349 MYRF G>T	11	61544349	61544349	G	T	MYRF	c.1563G>T	NM_013279.3	NP_037411.1:p.(Arg521=)	NC_000011.9:g.61544349G>T	(Likely) pathogenic	1 lab	48c1c97257
2:159519592 PKP4 G>A	2	159519592	159519592	G	A	PKP4	c.2395G>A	NM_003628.4	NP_003619.2:p.(Glu799Lys)	NC_000002.11:g.159519592G>A	(Likely) benign	1 lab	48c1cef85c
X:133609218 HPRT1 C>G	X	133609218	133609218	C	G	HPRT1	c.142C>G	NM_000194.2	NP_000185.1:p.(Arg48Gly)	NC_000023.10:g.133609218C>G	(Likely) pathogenic	1 lab	48c33091e0
14:64564756 SYNE2 C>T	14	64564756	64564756	C	T	SYNE2	c.12198C>T	NM_182914.2	NP_878918.2:p.(Asn4066=)	NC_000014.8:g.64564756C>T	(Likely) benign	1 lab	48c3ec6752
2:234231595 SAG C>T	2	234231595	234231595	C	T	SAG				NC_000002.11:g.234231595C>T	VUS	1 lab	4a02e3fddd
16:3779242 CREBBP C>G	16	3779242	3779242	C	G	CREBBP	c.5806G>C	NM_004380.2	NP_004371.2:p.(Gly1936Arg)	NC_000016.9:g.3779242C>G	VUS	1 lab	48c4e2a39c
17:39914070 JUP G>T	17	39914070	39914070	G	T	JUP	c.1774-34C>A	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39914070G>T	(Likely) benign	1 lab	48c6320532
11:61727006 BEST1 G>A	11	61727006	61727006	G	A	BEST1	c.904G>A	NM_004183.3	NP_004174.1:p.(Asp302Asn)	NC_000011.9:g.61727006G>A	(Likely) pathogenic	1 lab	48c7386964
1:156100372 LMNA CCTT>C	1	156100372	156100377	CCTT	C	LMNA	c.357-33_357-31del	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156100375_156100377del	(Likely) benign	1 lab	48cc35e5dc
4:106859549 NPNT G>C	4	106859549	106859549	G	C	NPNT	c.567G>C	NM_001184691.1	NP_001171620.1:p.(Gln189His)	NC_000004.11:g.106859549G>C	(Likely) benign	1 lab	48cc9914a5
1:228461887 OBSCN G>A	1	228461887	228461887	G	A	OBSCN	c.6550G>A	NM_001271223.2	NP_001258152.2:p.(Ala2184Thr)	NC_000001.10:g.228461887G>A	(Likely) benign	1 lab	48cdad89a4
11:3849236 RHOG C>T	11	3849236	3849236	C	T	RHOG	c.133G>A	NM_001665.4	NP_001656.2:p.(Ala45Thr)	NC_000011.9:g.3849236C>T	(Likely) benign	1 lab	070dd17e92
1:201341177 TNNT2 GAAGA>G	1	201341177	201341181	GAAGA	G	TNNT2	c.53-12_53-9del	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341178_201341181del	(Likely) benign	1 lab	48d19a0c44
3:37090445 MLH1 C>T	3	37090445	37090445	C	T	MLH1	c.2040C>T	NM_000249.3	NP_000240.1:p.(Cys680=)	NC_000003.11:g.37090445C>T	(Likely) benign	1 lab	48d1c4f1b8
2:166901779 SCN1A A>G	2	166901779	166901779	A	G	SCN1A	c.1436T>C	NM_001165963.2	NP_001159435.1:p.(Leu479Pro)	NC_000002.11:g.166901779A>G	VUS	1 lab	48d2214085
11:128781403 KCNJ5 A>G	11	128781403	128781403	A	G	KCNJ5	c.235A>G	NM_000890.3	NP_000881.3:p.(Thr79Ala)	NC_000011.9:g.128781403A>G	(Likely) pathogenic	1 lab	48d8f23e31
20:16407800 KIF16B G>GGGACCCA	20	16407800	16407807	G	GGGACCCA	KIF16B	c.1554_1560dup	NM_001199866.1	NP_001186795.1:p.(Gln521TrpfsTer34)	NC_000020.10:g.16407801_16407807dup	(Likely) pathogenic	1 lab	48db4ede34
16:23388528 SCNN1B A>G	16	23388528	23388528	A	G	SCNN1B	c.1313A>G	NM_000336.3	NP_000327.2:p.(Glu438Gly)	NC_000016.9:g.23388528A>G	(Likely) benign	1 lab	48dd65503e
14:105179707 INF2 C>T	14	105179707	105179707	C	T	INF2	c.2878+61C>T	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105179707C>T	(Likely) benign	1 lab	0894153e07
15:72640072 HEXA G>A	15	72640072	72640072	G	A	HEXA	c.1101C>T	NM_000520.6	NP_000511.2:p.(Gly367=)	NC_000015.9:g.72640072G>A	(Likely) pathogenic	1 lab	48e2ed7b02
1:109840095 MYBPHL C>T	1	109840095	109840095	C	T	MYBPHL	c.379G>A	NM_001010985.2	NP_001010985.2:p.(Val127Met)	NC_000001.10:g.109840095C>T	(Likely) benign	1 lab	48e3cd8582
11:76890889 MYO7A G>A	11	76890889	76890889	G	A	MYO7A	c.2476G>A	NM_000260.3	NP_000251.3:p.(Ala826Thr)	NC_000011.9:g.76890889G>A	VUS	1 lab	48e7a0287c
12:48371138 COL2A1 C>T	12	48371138	48371138	C	T	COL2A1	c.3238G>A	NM_001844.5	NP_001835.3:p.(Gly1080Ser)	NC_000012.11:g.48371138C>T	VUS	1 lab	48e8e06a23
3:176768371 TBL1XR1 T>A	3	176768371	176768371	T	A	TBL1XR1	c.455A>T	NM_001321194.1	NP_001308123.1:p.(Asp152Val)	NC_000003.11:g.176768371T>A	(Likely) benign	1 lab	48e8fa28b5
19:50204843 CPT1C G>A	19	50204843	50204843	G	A	CPT1C	c.645G>A	NM_001199752.2	NP_001186681.1:p.(Ser215=)	NC_000019.9:g.50204843G>A	(Likely) benign	1 lab	48ef30430b
18:44190738 LOXHD1 C>T	18	44190738	44190738	C	T	LOXHD1	c.759+1G>A	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44190738C>T	(Likely) pathogenic	1 lab	48f58693de
15:42111544 MAPKBP1 C>T	15	42111544	42111544	C	T	MAPKBP1	c.2410C>T	NM_001128608.2	NP_001122080.1:p.(Pro804Ser)	NC_000015.9:g.42111544C>T	(Likely) benign	1 lab	07121a817c
2:166167111 SCN2A A>T	2	166167111	166167111	A	T	SCN2A	c.970+6A>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166167111A>T	VUS	1 lab	07133b0e15
17:48244984 SGCA C>G	17	48244984	48244984	C	G	SGCA	c.199C>G	NM_000023.3	NP_000014.1:p.(Gln67Glu)	NC_000017.10:g.48244984C>G	(Likely) benign	1 lab	48f69734b0
13:52598345 ALG11 G>T	13	52598345	52598345	G	T	ALG11	c.479G>T	NM_001004127.2	NP_001004127.2:p.(Gly160Val)	NC_000013.10:g.52598345G>T	(Likely) pathogenic	1 lab	0713f22a59
19:6678268 C3 C>T	19	6678268	6678268	C	T	C3	c.4745G>A	NM_000064.2	NP_000055.2:p.(Arg1582His)	NC_000019.9:g.6678268C>T	VUS	1 lab	48fbd4db4d
7:155599067 SHH G>A	7	155599067	155599067	G	A	SHH	c.485C>T	NM_000193.2	NP_000184.1:p.(Ala162Val)	NC_000007.13:g.155599067G>A	(Likely) pathogenic	1 lab	48fd647327
18:19371379 MIB1 G>A	18	19371379	19371379	G	A	MIB1	c.953G>A	NM_020774.3	NP_065825.1:p.(Arg318Gln)	NC_000018.9:g.19371379G>A	VUS	1 lab	48fdda6cfa
17:41246296 BRCA1 C>T	17	41246296	41246296	C	T	BRCA1	c.1252G>A	NM_007294.3	NP_009225.1:p.(Glu418Lys)	NC_000017.10:g.41246296C>T	(Likely) benign	1 lab	48fe9aa4f7
10:94388631 KIF11 T>A	10	94388631	94388631	T	A	KIF11	c.1284T>A	NM_004523.3	NP_004514.2:p.(Ala428=)	NC_000010.10:g.94388631T>A	(Likely) benign	1 lab	4900a70f0f
1:161326615 SDHC T>A	1	161326615	161326615	T	A	SDHC	c.390T>A	NM_003001.3	NP_002992.1:p.(Asn130Lys)	NC_000001.10:g.161326615T>A	VUS	1 lab	4900c3fdca
12:122064788 ORAI1 G>GT	12	122064788	122064789	G	GT	ORAI1	c.137_138insACCGTCC	NM_032790.4	NP_116179.2:p.(Thr51ArgfsTer39)	NC_000012.11:g.122064788_122064789insT	(Likely) benign	1 lab	4902c7a1b4
17:42984719 GFAP A>G	17	42984719	42984719	A	G	GFAP	c.1295T>C	NM_002055.4	NP_002046.1:p.(Met432Thr)	NC_000017.10:g.42984719A>G	VUS	1 lab	49052bc59c
11:8132421 RIC3 C>T	11	8132421	8132421	C	T	RIC3	c.934G>A	NM_001206671.4	NP_001193600.1:p.(Asp312Asn)	NC_000011.9:g.8132421C>T	(Likely) benign	1 lab	0714cfa5d6
21:36252854 RUNX1 C>G	21	36252854	36252854	C	G	RUNX1	c.508G>C	NM_001754.4	NP_001745.2:p.(Gly170Arg)	NC_000021.8:g.36252854C>G	(Likely) pathogenic	1 lab	490811dd89
17:74475081 RHBDF2 G>A	17	74475081	74475081	G	A	RHBDF2	c.566C>T	NM_024599.5	NP_078875.4:p.(Pro189Leu)	NC_000017.10:g.74475081G>A	(Likely) pathogenic	1 lab	490b1a088b
14:23862233 MYH6 G>T	14	23862233	23862233	G	T	MYH6	c.3139C>A	NM_002471.3	NP_002462.2:p.(Arg1047Ser)	NC_000014.8:g.23862233G>T	VUS	1 lab	4910343a4f
11:108124809 ATM A>G	11	108124809	108124809	A	G	ATM	c.2124+43A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108124809A>G	(Likely) benign	1 lab	49106e54f4
9:37429744 GRHPR G>A	9	37429744	37429744	G	A	GRHPR	c.509G>A	NM_012203.2	NP_036335.1:p.(Arg170Gln)	NC_000009.11:g.37429744G>A	(Likely) benign	1 lab	07190b3e79
18:48586184 SMAD4 A>G	18	48586184	48586184	A	G	SMAD4	c.905-52A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48586184A>G	(Likely) benign	1 lab	4914e8596c
2:227942704 COL4A4 T>C	2	227942704	227942704	T	C	COL4A4	c.1893A>G	NM_000092.4	NP_000083.3:p.(Gly631=)	NC_000002.11:g.227942704T>C	(Likely) benign	1 lab	4915786432
17:66381226 ARSG C>T	17	66381226	66381226	C	T	ARSG	c.1004C>T	NM_014960.5	NP_055775.2:p.(Thr335Met)	NC_000017.10:g.66381226C>T	VUS	1 lab	49157ba0eb
16:16256903 ABCC6 A>G	16	16256903	16256903	A	G	ABCC6	c.3453T>C	NM_001171.5	NP_001162.4:p.(Asn1151=)	NC_000016.9:g.16256903A>G	(Likely) benign	1 lab	491c78b541
7:107312645 SLC26A4 CCTATCCTGACATA>C	7	107312645	107312660	CCTATCCTGACATA	C	SLC26A4	c.370_382del	NM_000441.1	NP_000432.1:p.(Ile124LeufsTer17)	NC_000007.13:g.107312648_107312660del	(Likely) pathogenic	1 lab	49214d9e68
14:29237549 FOXG1 C>A	14	29237549	29237549	C	A	FOXG1	c.1064C>A	NM_005249.5	NP_005240.3:p.(Ser355Tyr)	NC_000014.8:g.29237549C>A	VUS	1 lab	4921a88d84
10:123279633 FGFR2 A>AGACAGT	10	123279633	123279635	A	AGACAGT	FGFR2	c.798_799insACTGTC	NM_000141.5	NP_000132.3:p.(Ala266_Ser267insThrVal)	NC_000010.10:g.123279634_123279635insACAGTG	VUS	1 lab	4921d2bb85
20:62293919 RTEL1 G>A	20	62293919	62293919	G	A	RTEL1	c.488G>A	NM_032957.4	NP_116575.3:p.(Gly163Asp)	NC_000020.10:g.62293919G>A	(Likely) pathogenic	1 lab	49279f3100
2:227895159 COL4A4 C>G	2	227895159	227895159	C	G	COL4A4	c.3973G>C	NM_000092.5	NP_000083.3:p.(Gly1325Arg)	NC_000002.11:g.227895159C>G	(Likely) pathogenic	1 lab	492a25560c
21:35821770 KCNE1 C>T	21	35821770	35821770	C	T	KCNE1	c.163G>A	NM_000219.5	NP_000210.2:p.(Gly55Ser)	NC_000021.8:g.35821770C>T	(Likely) benign	1 lab	492b05f21e
7:47915740 PKD1L1 A>C	7	47915740	47915740	A	C	PKD1L1	c.3739T>G	NM_138295.4	NP_612152.1:p.(Tyr1247Asp)	NC_000007.13:g.47915740A>C	(Likely) benign	1 lab	492d9b980b
12:66859025 GRIP1 G>A	12	66859025	66859025	G	A	GRIP1	c.872+30C>T	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66859025G>A	(Likely) benign	1 lab	6a5358807b
13:32968825 BRCA2 G>C	13	32968825	32968825	G	C	BRCA2	c.9257-1G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32968825G>C	(Likely) pathogenic	1 lab	4933b79fe1
5:112116599 APC A>G	5	112116599	112116599	A	G	APC	c.644A>G	NM_000038.5	NP_000029.2:p.(Gln215Arg)	NC_000005.9:g.112116599A>G	VUS	1 lab	4933db8f48
3:37090024 MLH1 G>T	3	37090024	37090024	G	T	MLH1	c.1913G>T	NM_000249.3	NP_000240.1:p.(Gly638Val)	NC_000003.11:g.37090024G>T	VUS	1 lab	4976454bdb
1:154698430 KCNN3 C>T	1	154698430	154698430	C	T	KCNN3	c.1663G>A	NM_002249.6	NP_002240.3:p.(Val555Ile)	NC_000001.10:g.154698430C>T	(Likely) pathogenic	1 lab	4933ef6446
2:48027112 MSH6 T>C	2	48027112	48027112	T	C	MSH6	c.1990T>C	NM_000179.3	NP_000170.1:p.(Ser664Pro)	NC_000002.11:g.48027112T>C	VUS	1 lab	49345003ff
16:2150323 PKD1 A>G	16	2150323	2150323	A	G	PKD1	c.9569-13T>C	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2150323A>G	(Likely) benign	1 lab	4934a1d818
X:138643939 F9 A>G	X	138643939	138643939	A	G	F9	c.1095A>G	NM_000133.3	NP_000124.1:p.(Ser365=)	NC_000023.10:g.138643939A>G	(Likely) benign	1 lab	4937f357ad
7:107314639 SLC26A4 G>A	7	107314639	107314639	G	A	SLC26A4	c.446G>A	NM_000441.1	NP_000432.1:p.(Gly149Glu)	NC_000007.13:g.107314639G>A	VUS	1 lab	4939abcc81
11:118971528 DPAGT1 A>C	11	118971528	118971528	A	C	DPAGT1	c.308T>G	NM_001382.3	NP_001373.2:p.(Leu103Arg)	NC_000011.9:g.118971528A>C	VUS	1 lab	493a31649d
X:133609381 HPRT1 T>C	X	133609381	133609381	T	C	HPRT1	c.305T>C	NM_000194.2	NP_000185.1:p.(Leu102Pro)	NC_000023.10:g.133609381T>C	VUS	1 lab	493c58fc51
6:163148700 PRKN T>C	6	163148700	163148700	T	C	PRKN	c.1A>G	NM_004562.2	NP_004553.2:p.(Met1?)	NC_000006.11:g.163148700T>C	(Likely) pathogenic	1 lab	493caa73a7
1:111146191 KCNA2 G>A	1	111146191	111146191	G	A	KCNA2	c.1214C>T	NM_004974.4	NP_004965.1:p.(Pro405Leu)	NC_000001.10:g.111146191G>A	(Likely) pathogenic	1 lab	493ce9d500
16:57921843 CNGB1 G>A	16	57921843	57921843	G	A	CNGB1	c.3378C>T	NM_001297.4	NP_001288.3:p.(Gly1126=)	NC_000016.9:g.57921843G>A	(Likely) benign	1 lab	49422fe3b1
17:80402337 CYBC1 G>A	17	80402337	80402337	G	A	CYBC1	c.429C>T	NM_001033046.4	NP_001028218.1:p.(Val143=)	NC_000017.10:g.80402337G>A	(Likely) benign	1 lab	071fd4b80e
17:33428221 RAD51D T>C	17	33428221	33428221	T	C	RAD51D	c.902A>G	NM_002878.3	NP_002869.3:p.(Gln301Arg)	NC_000017.10:g.33428221T>C	VUS	1 lab	494569dbe5
17:59557320 TBX4 C>T	17	59557320	59557320	C	T	TBX4	c.781C>T	NM_001321120.2	NP_001308049.1:p.(Arg261Ter)	NC_000017.10:g.59557320C>T	(Likely) pathogenic	1 lab	4947881dc1
2:166913029 SCN1A A>G	2	166913029	166913029	A	G	SCN1A				NC_000002.11:g.166913029A>G	(Likely) benign	1 lab	4a07a83393
X:153648523 TAFAZZIN G>T	X	153648523	153648523	G	T	TAFAZZIN	c.647-28G>T	NM_000116.4	NP_000107.1:p.?	NC_000023.10:g.153648523G>T	(Likely) benign	1 lab	494d75014d
X:41082620 USP9X G>T	X	41082620	41082620	G	T	USP9X	c.6716G>T	NM_001039591.3	NP_001034680.2:p.(Cys2239Phe)	NC_000023.10:g.41082620G>T	(Likely) benign	1 lab	494ee1ba0d
5:112174751 APC G>T	5	112174751	112174751	G	T	APC	c.3460G>T	NM_000038.5	NP_000029.2:p.(Glu1154Ter)	NC_000005.9:g.112174751G>T	(Likely) pathogenic	1 lab	4953d4bf9b
2:227942519 COL4A4 A>G	2	227942519	227942519	A	G	COL4A4	c.1987+91T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227942519A>G	(Likely) benign	1 lab	4953fe16a9
1:12058910 MFN2 A>G	1	12058910	12058910	A	G	MFN2	c.683A>G	NM_014874.4	NP_055689.1:p.(Asn228Ser)	NC_000001.10:g.12058910A>G	VUS	1 lab	4954613ea6
3:38770416 SCN10A G>C	3	38770416	38770416	G	C	SCN10A	c.2281-24C>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38770416G>C	(Likely) benign	1 lab	49548f9d79
4:6302966 WFS1 A>T	4	6302966	6302966	A	T	WFS1	c.1444A>T	NM_006005.3	NP_005996.2:p.(Lys482Ter)	NC_000004.11:g.6302966A>T	(Likely) pathogenic	1 lab	4955227091
2:179478866 TTN C>T	2	179478866	179478866	C	T	TTN	c.49258G>A	NM_001267550.2	NP_001254479.2:p.(Glu16420Lys)	NC_000002.11:g.179478866C>T	VUS	1 lab	495881c11b
14:23891562 MYH7 T>C	14	23891562	23891562	T	C	MYH7	c.3100-28A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23891562T>C	(Likely) benign	1 lab	4960fa5e49
5:112175466 APC C>G	5	112175466	112175466	C	G	APC	c.4175C>G	NM_000038.5	NP_000029.2:p.(Ser1392Ter)	NC_000005.9:g.112175466C>G	(Likely) pathogenic	1 lab	4961a3d3d6
2:179579858 TTN G>A	2	179579858	179579858	G	A	TTN	c.26055C>T	NM_001267550.2	NP_001254479.2:p.(Ser8685=)	NC_000002.11:g.179579858G>A	(Likely) benign	1 lab	496203b065
12:49580480 TUBA1A T>C	12	49580480	49580480	T	C	TUBA1A	c.140A>G	NM_006009.4	NP_006000.2:p.(Asp47Gly)	NC_000012.11:g.49580480T>C	(Likely) pathogenic	1 lab	49620de542
17:48653006 CACNA1G C>T	17	48653006	48653006	C	T	CACNA1G	c.1243C>T	NM_018896.4	NP_061496.2:p.(Arg415Trp)	NC_000017.10:g.48653006C>T	VUS	1 lab	49665e5e93
5:112175521 APC C>A	5	112175521	112175521	C	A	APC	c.4230C>A	NM_000038.5	NP_000029.2:p.(Cys1410Ter)	NC_000005.9:g.112175521C>A	(Likely) pathogenic	1 lab	496c07fb04
10:121435978 BAG3 G>GC	10	121435978	121435981	G	GC	BAG3	c.915dup	NM_004281.3	NP_004272.2:p.(Met306HisfsTer13)	NC_000010.10:g.121435981dup	VUS	1 lab	0720902c99
7:6018392 PMS2 T>A	7	6018392	6018392	T	A	PMS2				NC_000007.13:g.6018392T>A	(Likely) benign	1 lab	496ca1b027
12:110238473 TRPV4 G>A	12	110238473	110238473	G	A	TRPV4	c.803C>T	NM_021625.4	NP_067638.3:p.(Ala268Val)	NC_000012.11:g.110238473G>A	VUS	1 lab	496daa6e87
13:26114522 ATP8A2 G>A	13	26114522	26114522	G	A	ATP8A2	c.647G>A	NM_016529.5	NP_057613.4:p.(Arg216His)	NC_000013.10:g.26114522G>A	VUS	1 lab	496db4ae16
11:32421510 WT1 A>G	11	32421510	32421510	A	G	WT1				NC_000011.9:g.32421510A>G	VUS	1 lab	07210f91b9
11:6625562 ILK G>C	11	6625562	6625562	G	C	ILK	c.61G>C	NM_004517.3	NP_004508.1:p.(Asp21His)	NC_000011.9:g.6625562G>C	VUS	1 lab	497153e66d
4:107037360 TBCK T>C	4	107037360	107037360	T	C	TBCK	c.2411A>G	NM_001163435.3	NP_001156907.2:p.(Asp804Gly)	NC_000004.11:g.107037360T>C	VUS	1 lab	4972db97ae
6:123577067 TRDN A>T	6	123577067	123577067	A	T	TRDN	c.1871-20T>A	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123577067A>T	(Likely) benign	1 lab	497592e281
17:18218058 TOP3A C>T	17	18218058	18218058	C	T	TOP3A	c.35G>A	NM_004618.4	NP_004609.1:p.(Trp12Ter)	NC_000017.10:g.18218058C>T	(Likely) pathogenic	1 lab	4979c6eed9
17:45369541 ITGB3 C>G	17	45369541	45369541	C	G	ITGB3	c.1297C>G	NM_000212.2	NP_000203.2:p.(Pro433Ala)	NC_000017.10:g.45369541C>G	VUS	1 lab	497b4f1d0b
2:175614716 CHRNA1 G>A	2	175614716	175614716	G	A	CHRNA1	c.1035C>T	NM_001039523.2	NP_001034612.1:p.(His345=)	NC_000002.11:g.175614716G>A	(Likely) benign	1 lab	497c7ddd00
1:43806085 MPL TGGACCTG>T	1	43806085	43806092	TGGACCTG	T	MPL	c.882_888del	NM_005373.2	NP_005364.1:p.(Asp295ArgfsTer72)	NC_000001.10:g.43806086_43806092del	(Likely) pathogenic	1 lab	497eac9421
2:179640926 TTN C>T	2	179640926	179640926	C	T	TTN	c.5665G>A	NM_001267550.2	NP_001254479.2:p.(Val1889Ile)	NC_000002.11:g.179640926C>T	(Likely) benign	1 lab	4980fc5544
1:237947247 RYR2 G>T	1	237947247	237947247	G	T	RYR2	c.12235G>T	NM_001035.3	NP_001026.2:p.(Asp4079Tyr)	NC_000001.10:g.237947247G>T	VUS	1 lab	4987593022
19:11559907 PRKCSH A>G	19	11559907	11559907	A	G	PRKCSH	c.1357A>G	NM_002743.3	NP_002734.2:p.(Ile453Val)	NC_000019.9:g.11559907A>G	(Likely) benign	1 lab	4988b40112
8:97316346 PTDSS1 G>T	8	97316346	97316346	G	T	PTDSS1	c.831G>T	NM_014754.1	NP_055569.1:p.(Trp277Cys)	NC_000008.10:g.97316346G>T	(Likely) pathogenic	1 lab	4989e5104a
1:155451201 MISSING A>T	1	155451201	155451201	A	T	MISSING				NC_000001.10:g.155451201A>T	VUS	1 lab	498b7dc7b1
6:64430535 EYS C>G	6	64430535	64430535	C	G	EYS	c.9392G>C	NM_001142800.1	NP_001136272.1:p.(Gly3131Ala)	NC_000006.11:g.64430535C>G	VUS	1 lab	498fe84d16
15:78775750 IREB2 G>A	15	78775750	78775750	G	A	IREB2	c.1387G>A	NM_004136.2	NP_004127.1:p.(Asp463Asn)	NC_000015.9:g.78775750G>A	VUS	1 lab	4991f28423
17:18023023 MYO15A C>A	17	18023023	18023023	C	A	MYO15A	c.909C>A	NM_016239.3	NP_057323.3:p.(Tyr303Ter)	NC_000017.10:g.18023023C>A	(Likely) pathogenic	1 lab	4993db08fa
17:48267723 COL1A1 C>T	17	48267723	48267723	C	T	COL1A1	c.2416G>A	NM_000088.4	NP_000079.2:p.(Gly806Ser)	NC_000017.10:g.48267723C>T	(Likely) pathogenic	1 lab	499603dae6
3:193355075 OPA1 G>A	3	193355075	193355075	G	A	OPA1	c.1035+5G>A	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193355075G>A	(Likely) pathogenic	1 lab	499be4aa3b
11:2610065 KCNQ1 C>T	11	2610065	2610065	C	T	KCNQ1	c.1374C>T	NM_000218.2	NP_000209.2:p.(Val458=)	NC_000011.9:g.2610065C>T	(Likely) benign	1 lab	499ff0ffd2
20:33570309 MYH7B A>G	20	33570309	33570309	A	G	MYH7B	c.701A>G	NM_020884.4	NP_065935.3:p.(Gln234Arg)	NC_000020.10:g.33570309A>G	VUS	1 lab	49a0cb27b8
16:8941581 PMM2 G>A	16	8941581	8941581	G	A	PMM2	c.640G>A	NM_000303.2	NP_000294.1:p.(Gly214Ser)	NC_000016.9:g.8941581G>A	VUS	1 lab	49a2ada943
9:129455498 LMX1B G>C	9	129455498	129455498	G	C	LMX1B				NC_000009.11:g.129455498G>C	(Likely) pathogenic	1 lab	49a6398861
2:228155566 COL4A3 T>G	2	228155566	228155566	T	G	COL4A3	c.3174T>G	NM_000091.4	NP_000082.2:p.(Tyr1058Ter)	NC_000002.11:g.228155566T>G	(Likely) pathogenic	1 lab	49a689a7bc
2:179446813 TTN G>A	2	179446813	179446813	G	A	TTN	c.58579C>T	NM_133378.4	NP_596869.4:p.(Arg19527Trp)	NC_000002.11:g.179446813G>A	VUS	1 lab	49a937078b
13:32953553 BRCA2 A>G	13	32953553	32953553	A	G	BRCA2				NC_000013.10:g.32953553A>G	VUS	1 lab	49a973e462
X:68049746 EFNB1 AAGTG>A	X	68049746	68049753	AAGTG	A	EFNB1	c.128+3_128+6del	NM_004429.4	NP_004420.1:p.?	NC_000023.10:g.68049750_68049753del	(Likely) benign	1 lab	49aa401e9b
13:32954023 BRCA2 A>C	13	32954023	32954023	A	C	BRCA2	c.9090A>C	NM_000059.3	NP_000050.2:p.(Thr3030=)	NC_000013.10:g.32954023A>C	(Likely) benign	1 lab	49abd87c24
16:71094424 HYDIN A>C	16	71094424	71094424	A	C	HYDIN	c.2512T>G	NM_001270974.2	NP_001257903.1:p.(Phe838Val)	NC_000016.9:g.71094424A>C	VUS	1 lab	49b128ac2d
X:49855172 CLCN5 G>T	X	49855172	49855172	G	T	CLCN5	c.1933+1G>T	NM_000084.5	NP_000075.1:p.?	NC_000023.10:g.49855172G>T	(Likely) pathogenic	1 lab	49b14040cc
6:90642509 BACH2 C>T	6	90642509	90642509	C	T	BACH2	c.2144G>A	NM_021813.4	NP_068585.1:p.(Arg715Gln)	NC_000006.11:g.90642509C>T	VUS	1 lab	49b1adcab5
5:156890276 NIPAL4 G>T	5	156890276	156890276	G	T	NIPAL4	c.398G>T	NM_001099287.1	NP_001092757.1:p.(Gly133Val)	NC_000005.9:g.156890276G>T	VUS	1 lab	49b2aaf7ec
19:33355167 SLC7A9 C>T	19	33355167	33355167	C	T	SLC7A9	c.313G>A	NM_014270.4	NP_055085.1:p.(Gly105Arg)	NC_000019.9:g.33355167C>T	(Likely) pathogenic	1 lab	49b33ed0f2
1:228463617 OBSCN C>A	1	228463617	228463617	C	A	OBSCN	c.7235C>A	NM_001271223.2	NP_001258152.2:p.(Ala2412Asp)	NC_000001.10:g.228463617C>A	(Likely) benign	1 lab	49b5067a61
7:47853567 PKD1L1 T>C	7	47853567	47853567	T	C	PKD1L1	c.7135A>G	NM_138295.3	NP_612152.1:p.(Ile2379Val)	NC_000007.13:g.47853567T>C	VUS	1 lab	49b54e868a
15:41865488 TYRO3 C>T	15	41865488	41865488	C	T	TYRO3	c.1986-18C>T	NM_006293.3	NP_006284.2:p.?	NC_000015.9:g.41865488C>T	(Likely) benign	1 lab	49b74bb712
1:236924478 ACTN2 G>AGA	1	236924478	236924478	G	AGA	ACTN2	c.2526+5delinsAGA	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236924478delinsAGA	VUS	1 lab	49bff4f9f3
2:227979393 COL4A4 C>T	2	227979393	227979393	C	T	COL4A4	c.509G>A	NM_000092.4	NP_000083.3:p.(Gly170Glu)	NC_000002.11:g.227979393C>T	VUS	1 lab	49c74d823e
4:5624498 EVC2 T>G	4	5624498	5624498	T	G	EVC2	c.2267A>C	NM_147127.5	NP_667338.3:p.(Asn756Thr)	NC_000004.11:g.5624498T>G	(Likely) benign	1 lab	0723a692a4
3:101039148 IMPG2 G>GT	3	101039148	101039149	G	GT	IMPG2	c.68dup	NM_016247.4	NP_057331.2:p.(Asp23GlufsTer29)	NC_000003.11:g.101039149dup	(Likely) pathogenic	1 lab	49cc567ba3
21:47537834 COL6A2 G>A	21	47537834	47537834	G	A	COL6A2	c.1100G>A	NM_001849.3	NP_001840.3:p.(Gly367Glu)	NC_000021.8:g.47537834G>A	VUS	1 lab	49d4e65649
8:42693360 THAP1 G>C	8	42693360	42693360	G	C	THAP1	c.387C>G	NM_018105.2	NP_060575.1:p.(Leu129=)	NC_000008.10:g.42693360G>C	(Likely) benign	1 lab	49d5572b89
17:41226452 BRCA1 G>A	17	41226452	41226452	G	A	BRCA1	c.4571C>T	NM_007294.4	NP_009225.1:p.(Ser1524Phe)	NC_000017.10:g.41226452G>A	(Likely) benign	1 lab	49d60203a1
2:47705659 MSH2 G>A	2	47705659	47705659	G	A	MSH2	c.2458+1G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47705659G>A	(Likely) pathogenic	1 lab	49d696031f
2:71906303 DYSF C>T	2	71906303	71906303	C	T	DYSF	c.6001C>T	NM_001130987.1	NP_001124459.1:p.(Gln2001Ter)	NC_000002.11:g.71906303C>T	(Likely) pathogenic	1 lab	49d6c077bf
2:228115900 COL4A3 T>TG	2	228115900	228115902	T	TG	COL4A3	c.593dup	NM_000091.4	NP_000082.2:p.(Pro199SerfsTer14)	NC_000002.11:g.228115902dup	(Likely) pathogenic	1 lab	49d95d0712
1:33245723 YARS1 C>T	1	33245723	33245723	C	T	YARS1	c.1297G>A	NM_003680.4	NP_003671.1:p.(Gly433Arg)	NC_000001.10:g.33245723C>T	VUS	1 lab	49da27676b
2:179542468 TTN T>C	2	179542468	179542468	T	C	TTN	c.30439A>G	NM_133378.4	NP_596869.4:p.(Ile10147Val)	NC_000002.11:g.179542468T>C	(Likely) benign	1 lab	49da483cf4
6:66115219 EYS G>A	6	66115219	66115219	G	A	EYS	c.904C>T	NM_001142800.1	NP_001136272.1:p.(Leu302Phe)	NC_000006.11:g.66115219G>A	VUS	1 lab	49db10a0f6
3:128615364 ACAD9 T>G	3	128615364	128615364	T	G	ACAD9	c.539T>G	NM_014049.5	NP_054768.2:p.(Leu180Arg)	NC_000003.11:g.128615364T>G	(Likely) pathogenic	1 lab	49def488e6
1:202719900 KDM5B G>A	1	202719900	202719900	G	A	KDM5B	c.1816C>T	NM_001314042.1	NP_001300971.1:p.(Arg606Ter)	NC_000001.10:g.202719900G>A	VUS	1 lab	49df682925
18:67871441 RTTN A>G	18	67871441	67871441	A	G	RTTN	c.278T>C	NM_173630.3	NP_775901.3:p.(Leu93Pro)	NC_000018.9:g.67871441A>G	(Likely) pathogenic	1 lab	49e3d02b5e
17:41244473 BRCA1 T>G	17	41244473	41244473	T	G	BRCA1	c.3075A>C	NM_007294.4	NP_009225.1:p.(Thr1025=)	NC_000017.10:g.41244473T>G	(Likely) benign	1 lab	49e4fae2b5
3:47059150 SETD2 T>C	3	47059150	47059150	T	C	SETD2	c.7511A>G	NM_014159.6	NP_054878.5:p.(Asp2504Gly)	NC_000003.11:g.47059150T>C	(Likely) benign	1 lab	49eb68be3d
16:1270111 CACNA1H G>A	16	1270111	1270111	G	A	CACNA1H	c.6179G>A	NM_021098.3	NP_066921.2:p.(Arg2060His)	NC_000016.9:g.1270111G>A	(Likely) benign	1 lab	0725dd753a
4:104579541 TACR3 G>C	4	104579541	104579541	G	C	TACR3	c.568C>G	NM_001059.2	NP_001050.1:p.(Pro190Ala)	NC_000004.11:g.104579541G>C	VUS	1 lab	49f9c6d765
13:32914049 BRCA2 T>G	13	32914049	32914049	T	G	BRCA2	c.5557T>G	NM_000059.3	NP_000050.2:p.(Cys1853Gly)	NC_000013.10:g.32914049T>G	VUS	1 lab	49fba7c1d4
6:7727668 BMP6 C>T	6	7727668	7727668	C	T	BMP6	c.480C>T	NM_001718.6	NP_001709.1:p.(Ser160=)	NC_000006.11:g.7727668C>T	(Likely) benign	1 lab	49fbf78b8a
1:43392895 SLC2A1 G>T	1	43392895	43392895	G	T	SLC2A1	c.1296C>A	NM_006516.2	NP_006507.2:p.(Tyr432Ter)	NC_000001.10:g.43392895G>T	(Likely) pathogenic	1 lab	49fc9a3e6c
10:69948679 MYPN C>A	10	69948679	69948679	C	A	MYPN	c.2721C>A	NM_001256267.1	NP_001243196.1:p.(Ser907Arg)	NC_000010.10:g.69948679C>A	VUS	1 lab	49fea2e377
4:187201698 F11 T>A	4	187201698	187201698	T	A	F11	c.1099T>A	NM_000128.3	NP_000119.1:p.(Ser367Thr)	NC_000004.11:g.187201698T>A	VUS	1 lab	49ff13be92
3:189582181 TP63 A>C	3	189582181	189582181	A	C	TP63	c.740A>C	NM_003722.4	NP_003713.3:p.(His247Pro)	NC_000003.11:g.189582181A>C	(Likely) pathogenic	1 lab	49ffa7b137
19:5244389 PTPRS T>G	19	5244389	5244389	T	G	PTPRS	c.1093A>C	NM_002850.3	NP_002841.3:p.(Ile365Leu)	NC_000019.9:g.5244389T>G	VUS	1 lab	4a01853e49
13:113768275 F7 G>A	13	113768275	113768275	G	A	F7	c.430+1G>A	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113768275G>A	(Likely) pathogenic	1 lab	4a0afc4f38
16:89620213 SPG7 G>T	16	89620213	89620213	G	T	SPG7	c.1948G>T	NM_003119.3	NP_003110.1:p.(Asp650Tyr)	NC_000016.9:g.89620213G>T	VUS	1 lab	4a0b49a26d
4:155511824 FGA T>C	4	155511824	155511824	T	C	FGA	c.16A>G	NM_000508.5	NP_000499.1:p.(Ile6Val)	NC_000004.11:g.155511824T>C	(Likely) benign	1 lab	4a0bf00249
11:47353058 MYBPC3 C>T	11	47353058	47353058	C	T	MYBPC3	c.*236G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353058C>T	(Likely) benign	1 lab	4a11ad27f4
3:37053593 MLH1 A>T	3	37053593	37053593	A	T	MLH1	c.677+3A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053593A>T	(Likely) pathogenic	1 lab	4a121f7066
6:31916268 CFB C>T	6	31916268	31916268	C	T	CFB	c.1015C>T	NM_001710.6	NP_001701.2:p.(Leu339Phe)	NC_000006.11:g.31916268C>T	VUS	1 lab	4a1292d1e2
11:72005169 CLPB G>A	11	72005169	72005169	G	A	CLPB	c.1772C>T	NM_030813.5	NP_110440.1:p.(Ala591Val)	NC_000011.9:g.72005169G>A	(Likely) pathogenic	1 lab	4a16c82d0c
3:189585692 TP63 G>A	3	189585692	189585692	G	A	TP63	c.953G>A	NM_003722.4	NP_003713.3:p.(Arg318His)	NC_000003.11:g.189585692G>A	(Likely) pathogenic	1 lab	4a18ba0da3
20:3888777 PANK2 G>T	20	3888777	3888777	G	T	PANK2	c.833G>T	NM_153638.3	NP_705902.2:p.(Arg278Leu)	NC_000020.10:g.3888777G>T	VUS	1 lab	4a1a387b1c
3:186289925 DNAJB11 C>T	3	186289925	186289925	C	T	DNAJB11	c.110C>T	NM_016306.6	NP_057390.1:p.(Ser37Phe)	NC_000003.11:g.186289925C>T	VUS	1 lab	4a1ecd8357
8:61736433 CHD7 C>A	8	61736433	61736433	C	A	CHD7	c.3236C>A	NM_017780.3	NP_060250.2:p.(Ala1079Asp)	NC_000008.10:g.61736433C>A	(Likely) pathogenic	1 lab	4a20313bcc
14:68191943 RDH12 C>G	14	68191943	68191943	C	G	RDH12	c.315C>G	NM_152443.2	NP_689656.2:p.(Ile105Met)	NC_000014.8:g.68191943C>G	(Likely) pathogenic	1 lab	4a22c66bf5
18:48586161 SMAD4 T>C	18	48586161	48586161	T	C	SMAD4	c.905-75T>C	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48586161T>C	(Likely) benign	1 lab	4a2378b8fb
2:219892515 CFAP65 G>A	2	219892515	219892515	G	A	CFAP65	c.2068C>T	NM_194302.4	NP_919278.2:p.(Arg690Ter)	NC_000002.11:g.219892515G>A	(Likely) pathogenic	1 lab	4a238be56c
15:80473485 FAH T>C	15	80473485	80473485	T	C	FAH	c.1164T>C	NM_000137.2	NP_000128.1:p.(Asp388=)	NC_000015.9:g.80473485T>C	(Likely) benign	1 lab	4a24e2ac7a
4:1806024 FGFR3 C>G	4	1806024	1806024	C	G	FGFR3	c.1076-33C>G	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806024C>G	(Likely) benign	1 lab	4a27bf182f
14:95596409 DICER1 G>A	14	95596409	95596409	G	A	DICER1	c.559C>T	NM_177438.3	NP_803187.1:p.(Arg187Ter)	NC_000014.8:g.95596409G>A	(Likely) pathogenic	1 lab	4a2a83560a
9:36222848 GNE C>T	9	36222848	36222848	C	T	GNE	c.1559G>A	NM_005476.5	NP_005467.1:p.(Cys520Tyr)	NC_000009.11:g.36222848C>T	VUS	1 lab	4a2d1e55d4
16:3781299 CREBBP A>G	16	3781299	3781299	A	G	CREBBP	c.5066T>C	NM_004380.2	NP_004371.2:p.(Leu1689Pro)	NC_000016.9:g.3781299A>G	(Likely) pathogenic	1 lab	4a2d52dfe5
5:112174736 APC G>A	5	112174736	112174736	G	A	APC	c.3445G>A	NM_000038.6	NP_000029.2:p.(Glu1149Lys)	NC_000005.9:g.112174736G>A	VUS	1 lab	4a2f9bd2ad
18:12353045 AFG3L2 T>A	18	12353045	12353045	T	A	AFG3L2	c.1277A>T	NM_006796.3	NP_006787.2:p.(Glu426Val)	NC_000018.9:g.12353045T>A	(Likely) pathogenic	1 lab	4a30bb72e7
17:56787298 RAD51C T>G	17	56787298	56787298	T	G	RAD51C	c.784T>G	NM_058216.2	NP_478123.1:p.(Leu262Val)	NC_000017.10:g.56787298T>G	VUS	1 lab	4a4d515d47
16:3707068 DNASE1 C>T	16	3707068	3707068	C	T	DNASE1	c.505C>T	NM_005223.3	NP_005214.2:p.(Leu169Phe)	NC_000016.9:g.3707068C>T	VUS	1 lab	4a3a908e59
22:21081658 PI4KA C>T	22	21081658	21081658	C	T	PI4KA				NC_000022.10:g.21081658C>T	(Likely) benign	1 lab	4a41227c57
11:2186951 TH C>T	11	2186951	2186951	C	T	TH	c.1240G>A	NM_199292.3	NP_954986.2:p.(Gly414Arg)	NC_000011.9:g.2186951C>T	(Likely) pathogenic	1 lab	4a43a5c747
11:76877152 MYO7A G>T	11	76877152	76877152	G	T	MYO7A	c.1741G>T	NM_000260.4	NP_000251.3:p.(Val581Phe)	NC_000011.9:g.76877152G>T	VUS	1 lab	4a44460d2e
17:56772543 RAD51C C>T	17	56772543	56772543	C	T	RAD51C	c.397C>T	NM_058216.3	NP_478123.1:p.(Gln133Ter)	NC_000017.10:g.56772543C>T	(Likely) pathogenic	1 lab	4a465ba3ea
13:32953619 BRCA2 A>T	13	32953619	32953619	A	T	BRCA2	c.8920A>T	NM_000059.4	NP_000050.3:p.(Ile2974Phe)	NC_000013.10:g.32953619A>T	VUS	1 lab	4a4777f111
3:37083773 MLH1 A>G	3	37083773	37083773	A	G	MLH1				NC_000003.11:g.37083773A>G	VUS	1 lab	4a4928fa2c
3:12645681 RAF1 A>C	3	12645681	12645681	A	C	RAF1	c.788T>G	NM_002880.3	NP_002871.1:p.(Val263Gly)	NC_000003.11:g.12645681A>C	(Likely) pathogenic	1 lab	4a4958541c
X:152960568 SLC6A8 C>T	X	152960568	152960568	C	T	SLC6A8	c.1807C>T	NM_005629.4	NP_005620.1:p.(His603Tyr)	NC_000023.10:g.152960568C>T	(Likely) benign	1 lab	4a49ca7516
11:128782023 KCNJ5 T>G	11	128782023	128782023	T	G	KCNJ5	c.855T>G	NM_000890.3	NP_000881.3:p.(Pro285=)	NC_000011.9:g.128782023T>G	(Likely) benign	1 lab	4a4b37919d
10:73450261 CDH23 A>G	10	73450261	73450261	A	G	CDH23	c.2096A>G	NM_022124.5	NP_071407.4:p.(Asp699Gly)	NC_000010.10:g.73450261A>G	(Likely) pathogenic	1 lab	4a4d3dbe2d
13:32889609 BRCA2 G>T	13	32889609	32889609	G	T	BRCA2				NC_000013.10:g.32889609G>T	(Likely) benign	1 lab	5b4cf458d8
2:179658145 TTN C>T	2	179658145	179658145	C	T	TTN	c.1522G>A	NM_001267550.2	NP_001254479.2:p.(Val508Ile)	NC_000002.11:g.179658145C>T	(Likely) benign	1 lab	4a4d6754ea
X:32482718 DMD CT>C	X	32482718	32482719	CT	C	DMD				NC_000023.10:g.32482719del	(Likely) pathogenic	1 lab	4a4ea7dac0
4:15982084 PROM1 T>C	4	15982084	15982084	T	C	PROM1	c.2450A>G	NM_006017.2	NP_006008.1:p.(Lys817Arg)	NC_000004.11:g.15982084T>C	VUS	1 lab	4a4ebd10a2
12:6153510 VWF G>A	12	6153510	6153510	G	A	VWF	c.2389C>T	NM_000552.3	NP_000543.2:p.(Leu797=)	NC_000012.11:g.6153510G>A	(Likely) benign	1 lab	4a4ed82639
5:37020594 NIPBL C>T	5	37020594	37020594	C	T	NIPBL	c.5044C>T	NM_133433.4	NP_597677.2:p.(Arg1682Ter)	NC_000005.9:g.37020594C>T	(Likely) pathogenic	1 lab	4a521688b1
1:152282910 FLG G>C	1	152282910	152282910	G	C	FLG	c.4452C>G	NM_002016.1	NP_002007.1:p.(Asp1484Glu)	NC_000001.10:g.152282910G>C	(Likely) benign	1 lab	4a548af9b1
6:64431636 EYS C>A	6	64431636	64431636	C	A	EYS	c.8291G>T	NM_001142800.1	NP_001136272.1:p.(Gly2764Val)	NC_000006.11:g.64431636C>A	VUS	1 lab	4a589a5378
12:103306568 PAH C>A	12	103306568	103306568	C	A	PAH	c.168+1G>T	NM_000277.1	NP_000268.1:p.?	NC_000012.11:g.103306568C>A	(Likely) pathogenic	1 lab	4a59baf8d6
5:176833286 F12 A>G	5	176833286	176833286	A	G	F12	c.116-224T>C	NM_000505.4	NP_000496.2:p.?	NC_000005.9:g.176833286A>G	(Likely) benign	1 lab	4a5bce8ba8
9:129376868 LMX1B G>T	9	129376868	129376868	G	T	LMX1B	c.139+1G>T	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129376868G>T	(Likely) pathogenic	1 lab	4a5f3ab424
10:88469654 LDB3 G>A	10	88469654	88469654	G	A	LDB3	c.1086-8G>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88469654G>A	(Likely) benign	1 lab	4a607ee1ab
12:111348916 MYL2 C>T	12	111348916	111348916	C	T	MYL2	c.466G>A	NM_000432.3	NP_000423.2:p.(Val156Met)	NC_000012.11:g.111348916C>T	VUS	1 lab	4a61624fa3
7:107330603 SLC26A4 C>A	7	107330603	107330603	C	A	SLC26A4				NC_000007.13:g.107330603C>A	(Likely) pathogenic	1 lab	4a63446922
2:234669218 UGT1A1 C>T	2	234669218	234669218	C	T	UGT1A1	c.285C>T	NM_000463.2	NP_000454.1:p.(Leu95=)	NC_000002.11:g.234669218C>T	(Likely) benign	1 lab	4a69103d3c
11:68525174 CPT1A G>A	11	68525174	68525174	G	A	CPT1A	c.2260C>T	NM_001876.3	NP_001867.2:p.(Leu754=)	NC_000011.9:g.68525174G>A	(Likely) benign	1 lab	4a6d7dfc4d
15:42691824 CAPN3 C>T	15	42691824	42691824	C	T	CAPN3	c.1328C>T	NM_000070.2	NP_000061.1:p.(Ser443Phe)	NC_000015.9:g.42691824C>T	VUS	1 lab	4a72d37bf9
10:89720852 PTEN C>G	10	89720852	89720852	C	G	PTEN	c.1003C>G	NM_000314.4	NP_000305.3:p.(Arg335Gly)	NC_000010.10:g.89720852C>G	VUS	1 lab	4a736a7ad8
2:241737133 KIF1A G>A	2	241737133	241737133	G	A	KIF1A	c.37C>T	NM_001244008.1	NP_001230937.1:p.(Arg13Cys)	NC_000002.11:g.241737133G>A	(Likely) pathogenic	1 lab	4a751d9e58
12:23696224 SOX5 C>T	12	23696224	23696224	C	T	SOX5				NC_000012.11:g.23696224C>T	(Likely) pathogenic	1 lab	4a75b91d77
13:32944538 BRCA2 G>C	13	32944538	32944538	G	C	BRCA2	c.8332-1G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944538G>C	(Likely) pathogenic	1 lab	4a76477044
13:32912078 BRCA2 T>C	13	32912078	32912078	T	C	BRCA2	c.3586T>C	NM_000059.3	NP_000050.2:p.(Leu1196=)	NC_000013.10:g.32912078T>C	(Likely) benign	1 lab	4a76af1421
16:56554118 BBS2 T>C	16	56554118	56554118	T	C	BBS2				NC_000016.9:g.56554118T>C	(Likely) benign	1 lab	4a781f2e76
2:168099781 XIRP2 G>A	2	168099781	168099781	G	A	XIRP2	c.1879G>A	NM_152381.5	NP_689594.4:p.(Asp627Asn)	NC_000002.11:g.168099781G>A	(Likely) benign	1 lab	4a78ca2ef4
10:121411370 BAG3 G>A	10	121411370	121411370	G	A	BAG3	c.180+3G>A	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121411370G>A	VUS	1 lab	6b05d90999
12:121890988 KDM2B C>A	12	121890988	121890988	C	A	KDM2B	c.1894G>T	NM_032590.4	NP_115979.3:p.(Asp632Tyr)	NC_000012.11:g.121890988C>A	VUS	1 lab	4a7b6c142b
3:121981207 CASR G>C	3	121981207	121981207	G	C	CASR	c.1325G>C	NM_000388.4	NP_000379.3:p.(Gly442Ala)	NC_000003.11:g.121981207G>C	VUS	1 lab	4a7c1fdc8c
2:97217495 ARID5A C>A	2	97217495	97217495	C	A	ARID5A	c.1392C>A	NM_001319085.1	NP_001306014.1:p.(Tyr464Ter)	NC_000002.11:g.97217495C>A	VUS	1 lab	4a7db923c0
X:48458736 WDR13 C>T	X	48458736	48458736	C	T	WDR13	c.553C>T	NM_017883.4	NP_060353.2:p.(Arg185Ter)	NC_000023.10:g.48458736C>T	(Likely) pathogenic	1 lab	4a802abdc0
1:247587530 NLRP3 G>T	1	247587530	247587530	G	T	NLRP3	c.779G>T	NM_001243133.2	NP_001230062.1:p.(Arg260Leu)	NC_000001.10:g.247587530G>T	(Likely) pathogenic	1 lab	073339efe2
19:7623834 PNPLA6 G>A	19	7623834	7623834	G	A	PNPLA6	c.3382G>A	NM_006702.4	NP_006693.3:p.(Gly1128Ser)	NC_000019.9:g.7623834G>A	VUS	1 lab	4a8be1c60c
9:77427277 TRPM6 C>A	9	77427277	77427277	C	A	TRPM6	c.1381G>T	NM_017662.4	NP_060132.3:p.(Glu461Ter)	NC_000009.11:g.77427277C>A	(Likely) pathogenic	1 lab	4a956f9658
16:89351329 ANKRD11 G>A	16	89351329	89351329	G	A	ANKRD11	c.1621C>T	NM_001256182.1	NP_001243111.1:p.(Gln541Ter)	NC_000016.9:g.89351329G>A	(Likely) pathogenic	1 lab	4a9a16a81d
14:23857423 MYH6 C>T	14	23857423	23857423	C	T	MYH6	c.4300G>A	NM_002471.3	NP_002462.2:p.(Val1434Ile)	NC_000014.8:g.23857423C>T	VUS	1 lab	4aa3a0d17e
1:94508453 ABCA4 ACCT>A	1	94508453	94508456	ACCT	A	ABCA4	c.3191-2_3191del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94508454_94508456del	(Likely) pathogenic	1 lab	4aa3da3523
1:202724417 KDM5B G>C	1	202724417	202724417	G	C	KDM5B	c.1520C>G	NM_006618.5	NP_006609.3:p.(Ser507Ter)	NC_000001.10:g.202724417G>C	(Likely) pathogenic	1 lab	4aa719aa37
5:127626546 FBN2 A>G	5	127626546	127626546	A	G	FBN2	c.6323T>C	NM_001999.4	NP_001990.2:p.(Phe2108Ser)	NC_000005.9:g.127626546A>G	VUS	1 lab	4aa9e08b95
7:1539241 INTS1 G>A	7	1539241	1539241	G	A	INTS1	c.712C>T	NM_001080453.3	NP_001073922.2:p.(Arg238Trp)	NC_000007.13:g.1539241G>A	VUS	1 lab	4aaa8c91b7
2:179474075 TTN C>T	2	179474075	179474075	C	T	TTN	c.51962G>A	NM_001267550.2	NP_001254479.2:p.(Arg17321His)	NC_000002.11:g.179474075C>T	VUS	1 lab	4aafba2739
15:72103931 MISSING G>A	15	72103931	72103931	G	A	MISSING				NC_000015.9:g.72103931G>A	(Likely) pathogenic	1 lab	4ab08e44f4
3:129247734 RHO C>G	3	129247734	129247734	C	G	RHO	c.158C>G	NM_000539.3	NP_000530.1:p.(Pro53Arg)	NC_000003.11:g.129247734C>G	(Likely) pathogenic	1 lab	4ab313aff3
2:159481802 PKP4 A>G	2	159481802	159481802	A	G	PKP4	c.1016A>G	NM_003628.4	NP_003619.2:p.(Lys339Arg)	NC_000002.11:g.159481802A>G	(Likely) benign	1 lab	4ab674df05
8:61729050 CHD7 T>A	8	61729050	61729050	T	A	CHD7				NC_000008.10:g.61729050T>A	(Likely) pathogenic	1 lab	4aba79c2bd
15:82431039 EFL1 C>T	15	82431039	82431039	C	T	EFL1	c.3134G>A	NM_024580.5	NP_078856.4:p.(Ser1045Asn)	NC_000015.9:g.82431039C>T	(Likely) pathogenic	1 lab	4abb73ca9f
12:6161802 VWF C>T	12	6161802	6161802	C	T	VWF	c.2093G>A	NM_000552.3	NP_000543.2:p.(Arg698Lys)	NC_000012.11:g.6161802C>T	(Likely) benign	1 lab	4abbd48aa6
16:943589 LMF1 T>G	16	943589	943589	T	G	LMF1	c.265-517A>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943589T>G	(Likely) benign	1 lab	0a0d99bc8d
1:152283236 FLG T>C	1	152283236	152283236	T	C	FLG	c.4126A>G	NM_002016.1	NP_002007.1:p.(Arg1376Gly)	NC_000001.10:g.152283236T>C	(Likely) benign	1 lab	4abc728e74
16:89620367 SPG7 A>C	16	89620367	89620367	A	C	SPG7	c.2102A>C	NM_003119.2	NP_003110.1:p.(His701Pro)	NC_000016.9:g.89620367A>C	(Likely) pathogenic	1 lab	4abdf96929
4:99579308 TSPAN5 C>T	4	99579308	99579308	C	T	TSPAN5	c.70G>A	NM_005723.3	NP_005714.2:p.(Val24Ile)	NC_000004.11:g.99579308C>T	VUS	1 lab	4abe2c65f5
3:9483407 SETD5 A>G	3	9483407	9483407	A	G	SETD5	c.941A>G	NM_001080517.3	NP_001073986.1:p.(Asn314Ser)	NC_000003.11:g.9483407A>G	(Likely) pathogenic	1 lab	4ac450b027
3:9495422 SETD5 G>T	3	9495422	9495422	G	T	SETD5	c.2347-1G>T	NM_001080517.1	NP_001073986.1:p.?	NC_000003.11:g.9495422G>T	(Likely) pathogenic	1 lab	4ac98522ff
7:158716377 DYNC2I1 C>T	7	158716377	158716377	C	T	DYNC2I1	c.2210C>T	NM_018051.5	NP_060521.4:p.(Thr737Met)	NC_000007.13:g.158716377C>T	(Likely) benign	1 lab	073542a3da
4:144447451 SMARCA5 TCAAA>T	4	144447451	144447458	TCAAA	T	SMARCA5	c.643_646del	NM_003601.4	NP_003592.3:p.(Thr215PhefsTer7)	NC_000004.11:g.144447455_144447458del	VUS	1 lab	4accf4729a
X:154221384 F8 T>TCTGC	X	154221384	154221387	T	TCTGC	F8	c.427_428insGCAG	NM_000132.3	NP_000123.1:p.(Glu143GlyfsTer4)	NC_000023.10:g.154221386_154221387insGCCT	(Likely) pathogenic	1 lab	0737d519c0
2:166223837 SCN2A G>A	2	166223837	166223837	G	A	SCN2A	c.3631G>A	NM_001040142.1	NP_001035232.1:p.(Glu1211Lys)	NC_000002.11:g.166223837G>A	(Likely) pathogenic	1 lab	4ad04d0125
4:95578650 PDLIM5 C>T	4	95578650	95578650	C	T	PDLIM5	c.1624C>T	NM_001256426.1	NP_001243355.1:p.(Arg542Trp)	NC_000004.11:g.95578650C>T	(Likely) benign	1 lab	0739c56dc3
11:111782428 CRYAB G>C	11	111782428	111782428	G	C	CRYAB	c.21C>G	NM_001885.2	NP_001876.1:p.(His7Gln)	NC_000011.9:g.111782428G>C	VUS	1 lab	4ad3c9b323
2:86479104 REEP1 TGTGGCGGCCACGTTCAAGCCCC>T	2	86479104	86479127	TGTGGCGGCCACGTTCAAGCCCC	T	REEP1	c.371_392del	NM_022912.2	NP_075063.1:p.(Arg124GlnfsTer4)	NC_000002.11:g.86479106_86479127del	(Likely) pathogenic	1 lab	4ad4382696
2:166848309 SCN1A C>A	2	166848309	166848309	C	A	SCN1A	c.5476G>T	NM_001165963.1	NP_001159435.1:p.(Glu1826Ter)	NC_000002.11:g.166848309C>A	(Likely) pathogenic	1 lab	4ad4595465
16:56926960 SLC12A3 G>A	16	56926960	56926960	G	A	SLC12A3	c.2542G>A	NM_000339.2	NP_000330.2:p.(Asp848Asn)	NC_000016.9:g.56926960G>A	VUS	1 lab	4ad4a6a7fa
15:43893606 STRC C>G	15	43893606	43893606	C	G	STRC	c.4689G>C	NM_153700.2	NP_714544.1:p.(Trp1563Cys)	NC_000015.9:g.43893606C>G	VUS	1 lab	4ad9442d79
9:130438979 STXBP1 G>A	9	130438979	130438979	G	A	STXBP1	c.1306G>A	NM_003165.3	NP_003156.1:p.(Asp436Asn)	NC_000009.11:g.130438979G>A	VUS	1 lab	4ada21b071
2:170336065 BBS5 T>C	2	170336065	170336065	T	C	BBS5	c.2T>C	NM_152384.2	NP_689597.1:p.(Met1?)	NC_000002.11:g.170336065T>C	(Likely) pathogenic	1 lab	4adbf8917e
2:39281982 SOS1 T>C	2	39281982	39281982	T	C	SOS1				NC_000002.11:g.39281982T>C	(Likely) benign	1 lab	4adc75784a
9:3266242 RFX3 A>G	9	3266242	3266242	A	G	RFX3	c.1421T>C	NM_134428.2	NP_602304.1:p.(Met474Thr)	NC_000009.11:g.3266242A>G	VUS	1 lab	4ade13ce14
X:153135577 L1CAM C>T	X	153135577	153135577	C	T	L1CAM	c.925G>A	NM_001278116.2	NP_001265045.1:p.(Glu309Lys)	NC_000023.10:g.153135577C>T	(Likely) pathogenic	1 lab	4ae193fd2d
15:40700194 IVD G>A	15	40700194	40700194	G	A	IVD	c.295+5G>A	NM_002225.3	NP_002216.2:p.?	NC_000015.9:g.40700194G>A	(Likely) pathogenic	1 lab	4ae433668c
11:108175681 ATM A>G	11	108175681	108175681	A	G	ATM	c.5674+102A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108175681A>G	(Likely) benign	1 lab	4ae7315081
13:32911468 BRCA2 A>T	13	32911468	32911468	A	T	BRCA2	c.2976A>T	NM_000059.3	NP_000050.2:p.(Lys992Asn)	NC_000013.10:g.32911468A>T	(Likely) benign	1 lab	4ae7591a56
8:61778433 CHD7 G>T	8	61778433	61778433	G	T	CHD7	c.8935G>T	NM_017780.4	NP_060250.2:p.(Glu2979Ter)	NC_000008.10:g.61778433G>T	VUS	1 lab	4ae7b5c48c
10:71974341 PPA1 G>A	10	71974341	71974341	G	A	PPA1	c.299C>T	NM_021129.4	NP_066952.1:p.(Thr100Ile)	NC_000010.10:g.71974341G>A	VUS	1 lab	4aed906a96
12:49427369 KMT2D G>A	12	49427369	49427369	G	A	KMT2D	c.11119C>T	NM_003482.3	NP_003473.3:p.(Arg3707Ter)	NC_000012.11:g.49427369G>A	(Likely) pathogenic	1 lab	4aefdf2e90
17:78188089 SGSH C>T	17	78188089	78188089	C	T	SGSH	c.545G>A	NM_000199.4	NP_000190.1:p.(Arg182His)	NC_000017.10:g.78188089C>T	VUS	1 lab	4af0f321d4
17:41245745 BRCA1 G>T	17	41245745	41245745	G	T	BRCA1	c.1803C>A	NM_007294.4	NP_009225.1:p.(His601Gln)	NC_000017.10:g.41245745G>T	(Likely) benign	1 lab	4af4945e3a
11:47371623 MYBPC3 G>GC	11	47371623	47371624	G	GC	MYBPC3	c.446_447insG	NM_000256.3	NP_000247.2:p.(Asp151ArgfsTer2)	NC_000011.9:g.47371623_47371624insC	(Likely) pathogenic	1 lab	4af5ebadcf
19:8168545 FBN3 C>T	19	8168545	8168545	C	T	FBN3	c.4840G>A	NM_032447.5	NP_115823.3:p.(Gly1614Ser)	NC_000019.9:g.8168545C>T	(Likely) benign	1 lab	0a8ec51ce0
17:33443923 RAD51D G>A	17	33443923	33443923	G	A	RAD51D	c.263+1597C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443923G>A	(Likely) benign	1 lab	4afbc701c7
20:62124490 EEF1A2 C>T	20	62124490	62124490	C	T	EEF1A2	c.772G>A	NM_001958.3	NP_001949.1:p.(Gly258Ser)	NC_000020.10:g.62124490C>T	VUS	1 lab	4afc852521
10:64973487 JMJD1C G>A	10	64973487	64973487	G	A	JMJD1C				NC_000010.10:g.64973487G>A	VUS	1 lab	4afdc69e93
16:1005442 LMF1 C>A	16	1005442	1005442	C	A	LMF1	c.194-776G>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1005442C>A	(Likely) benign	1 lab	17ac1dc4f3
19:50365120 PNKP GCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGT>G	19	50365120	50365156	GCCAGGAGCCTAGCGTGTCCTGGGGACACGAGAGGT	G	PNKP	c.1189-17_1206del	NM_007254.3	NP_009185.2:p.?	NC_000019.9:g.50365122_50365156del	(Likely) pathogenic	1 lab	4afe57bd6b
8:133150129 KCNQ3 C>T	8	133150129	133150129	C	T	KCNQ3	c.1700+3G>A	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133150129C>T	(Likely) benign	1 lab	073a968685
5:77334974 AP3B1 G>C	5	77334974	77334974	G	C	AP3B1	c.2702C>G	NM_003664.5	NP_003655.3:p.(Ser901Cys)	NC_000005.9:g.77334974G>C	(Likely) pathogenic	1 lab	4b00aa151c
14:61115895 SIX1 G>C	14	61115895	61115895	G	C	SIX1	c.13C>G	NM_005982.3	NP_005973.1:p.(Pro5Ala)	NC_000014.8:g.61115895G>C	VUS	1 lab	4b03b65855
18:42260348 SETBP1 C>T	18	42260348	42260348	C	T	SETBP1	c.-185C>T	NM_001130110.1	NP_001123582.1:p.?	NC_000018.9:g.42260348C>T	(Likely) benign	1 lab	4b08f0609b
3:38753882 SCN10A C>T	3	38753882	38753882	C	T	SCN10A	c.3859G>A	NM_006514.3	NP_006505.3:p.(Val1287Ile)	NC_000003.11:g.38753882C>T	VUS	1 lab	4b0952f17e
13:113768269 F7 A>G	13	113768269	113768269	A	G	F7	c.425A>G	NM_000131.4	NP_000122.1:p.(Glu142Gly)	NC_000013.10:g.113768269A>G	(Likely) pathogenic	1 lab	4b0afc84df
1:216243585 USH2A G>T	1	216243585	216243585	G	T	USH2A	c.5907C>A	NM_206933.2	NP_996816.2:p.(Tyr1969Ter)	NC_000001.10:g.216243585G>T	(Likely) pathogenic	1 lab	4b0c2acac9
9:130438134 STXBP1 C>T	9	130438134	130438134	C	T	STXBP1	c.1162C>T	NM_003165.3	NP_003156.1:p.(Arg388Ter)	NC_000009.11:g.130438134C>T	(Likely) pathogenic	1 lab	4b0ec247fb
17:3494361 TRPV1 G>A	17	3494361	3494361	G	A	TRPV1	c.501C>T	NM_018727.5	NP_061197.4:p.(His167=)	NC_000017.10:g.3494361G>A	(Likely) benign	1 lab	4b12d4acb7
3:42727758 KLHL40 G>T	3	42727758	42727758	G	T	KLHL40	c.648G>T	NM_152393.4	NP_689606.2:p.(Ala216=)	NC_000003.11:g.42727758G>T	(Likely) benign	1 lab	073bbcd85c
2:32361631 SPAST G>C	2	32361631	32361631	G	C	SPAST	c.1246-1G>C	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32361631G>C	(Likely) pathogenic	1 lab	4b160fa4b4
2:20114039 WDR35 C>T	2	20114039	20114039	C	T	WDR35	c.3155-1G>A	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20114039C>T	(Likely) pathogenic	1 lab	4b1a4d963a
11:686900 DEAF1 T>G	11	686900	686900	T	G	DEAF1	c.762A>C	NM_021008.4	NP_066288.2:p.(Arg254Ser)	NC_000011.9:g.686900T>G	(Likely) pathogenic	1 lab	4b1bc57419
2:48026821 MSH6 A>T	2	48026821	48026821	A	T	MSH6	c.1699A>T	NM_000179.3	NP_000170.1:p.(Lys567Ter)	NC_000002.11:g.48026821A>T	(Likely) pathogenic	1 lab	4b1f70f942
1:161275754 MPZ T>C	1	161275754	161275754	T	C	MPZ	c.659A>G	NM_000530.8	NP_000521.2:p.(Tyr220Cys)	NC_000001.10:g.161275754T>C	VUS	1 lab	4b2086c674
17:7097312 DLG4 G>A	17	7097312	7097312	G	A	DLG4	c.1615C>T	NM_001365.4	NP_001356.1:p.(Arg539Ter)	NC_000017.10:g.7097312G>A	(Likely) pathogenic	1 lab	4b22634130
3:121902623 CASR G>A	3	121902623	121902623	G	A	CASR	c.-279G>A	NM_000388.3	NP_000379.2:p.?	NC_000003.11:g.121902623G>A	(Likely) benign	1 lab	4b2299258c
14:58917454 KIAA0586 G>A	14	58917454	58917454	G	A	KIAA0586	c.1278G>A	NM_001244189.1	NP_001231118.1:p.(Ser426=)	NC_000014.8:g.58917454G>A	(Likely) benign	1 lab	4b23189a2a
7:128036724 IMPDH1 G>T	7	128036724	128036724	G	T	IMPDH1				NC_000007.13:g.128036724G>T	(Likely) benign	1 lab	4b23977ebe
2:48046114 FBXO11 C>T	2	48046114	48046114	C	T	FBXO11	c.1901G>A	NM_001190274.2	NP_001177203.1:p.(Arg634Gln)	NC_000002.11:g.48046114C>T	VUS	1 lab	4b245958cc
X:46713106 RP2 G>A	X	46713106	46713106	G	A	RP2	c.298G>A	NM_006915.3	NP_008846.2:p.(Val100Met)	NC_000023.10:g.46713106G>A	VUS	1 lab	4b2ac1873e
12:98928025 TMPO T>G	12	98928025	98928025	T	G	TMPO	c.1990T>G	NM_003276.2	NP_003267.1:p.(Ser664Ala)	NC_000012.11:g.98928025T>G	VUS	1 lab	0741363174
2:234229320 SAG A>G	2	234229320	234229320	A	G	SAG	c.226A>G	NM_000541.4	NP_000532.2:p.(Ile76Val)	NC_000002.11:g.234229320A>G	(Likely) benign	1 lab	4b2e7a71a1
1:215844636 USH2A C>T	1	215844636	215844636	C	T	USH2A	c.13812-1G>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215844636C>T	(Likely) pathogenic	1 lab	4b320621cf
12:111348709 MYL2 C>T	12	111348709	111348709	C	T	MYL2	c.*172G>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348709C>T	(Likely) benign	1 lab	4b3667ac59
X:100662899 GLA G>C	X	100662899	100662899	G	C	GLA	c.-8C>G	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100662899G>C	(Likely) benign	1 lab	4b65082c1f
6:35466211 TULP1 GGCCGAACTGCA>G	6	35466211	35466224	GGCCGAACTGCA	G	TULP1	c.1511_1521del	NM_003322.5	NP_003313.3:p.(Leu504ProfsTer141)	NC_000006.11:g.35466214_35466224del	(Likely) pathogenic	1 lab	4b39981e4b
11:88961021 TYR A>G	11	88961021	88961021	A	G	TYR	c.1067A>G	NM_000372.5	NP_000363.1:p.(Asp356Gly)	NC_000011.9:g.88961021A>G	VUS	1 lab	4b3cdeb79f
1:201047135 CACNA1S G>A	1	201047135	201047135	G	A	CACNA1S	c.1491C>T	NM_000069.2	NP_000060.2:p.(Asn497=)	NC_000001.10:g.201047135G>A	(Likely) benign	1 lab	4b3ed28ccd
3:130098623 COL6A5 C>G	3	130098623	130098623	C	G	COL6A5	c.1030C>G	NM_001278298.1	NP_001265227.1:p.(Leu344Val)	NC_000003.11:g.130098623C>G	(Likely) benign	1 lab	074470575c
19:54627268 PRPF31 TC>T	19	54627268	54627269	TC	T	PRPF31	c.669del	NM_015629.4	NP_056444.3:p.(Ile223MetfsTer16)	NC_000019.9:g.54627269del	(Likely) pathogenic	1 lab	4b406bc04f
17:78169145 CARD14 G>A	17	78169145	78169145	G	A	CARD14	c.1499+13G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78169145G>A	(Likely) benign	1 lab	07447ed821
1:153800527 GATAD2B GTT>G	1	153800527	153800531	GTT	G	GATAD2B	c.295_296del	NM_020699.2	NP_065750.1:p.(Asn99HisfsTer3)	NC_000001.10:g.153800530_153800531del	(Likely) pathogenic	1 lab	4b4bb41a02
3:37089172 MLH1 G>T	3	37089172	37089172	G	T	MLH1	c.1894G>T	NM_000249.4	NP_000240.1:p.(Glu632Ter)	NC_000003.11:g.37089172G>T	(Likely) pathogenic	1 lab	4b4c9c6f13
12:6128275 VWF C>T	12	6128275	6128275	C	T	VWF	c.4309G>A	NM_000552.3	NP_000543.2:p.(Ala1437Thr)	NC_000012.11:g.6128275C>T	(Likely) pathogenic	1 lab	4b4fe2c162
1:196682951 CFH T>C	1	196682951	196682951	T	C	CFH	c.1423T>C	NM_000186.4	NP_000177.2:p.(Tyr475His)	NC_000001.10:g.196682951T>C	(Likely) benign	1 lab	4b546e57b5
19:35523629 SCN1B G>GCTCC	19	35523629	35523630	G	GCTCC	SCN1B	c.207+31_207+32insCTCC	NM_001037.4	NP_001028.1:p.?	NC_000019.9:g.35523629_35523630insCTCC	(Likely) benign	1 lab	4b562c61c6
20:5967973 MCM8 G>A	20	5967973	5967973	G	A	MCM8	c.2209G>A	NM_032485.6	NP_115874.3:p.(Ala737Thr)	NC_000020.10:g.5967973G>A	VUS	1 lab	4b5a2faf61
21:47676711 MCM3AP G>A	21	47676711	47676711	G	A	MCM3AP	c.3924C>T	NM_003906.3	NP_003897.2:p.(Ser1308=)	NC_000021.8:g.47676711G>A	(Likely) benign	1 lab	4b5e59a5ba
5:218467 SDHA A>G	5	218467	218467	A	G	SDHA	c.-4A>G	NM_004168.3	NP_004159.2:p.?	NC_000005.9:g.218467A>G	(Likely) benign	1 lab	4b6007e8f1
5:112173912 APC C>G	5	112173912	112173912	C	G	APC	c.2621C>G	NM_000038.5	NP_000029.2:p.(Ser874Ter)	NC_000005.9:g.112173912C>G	(Likely) pathogenic	1 lab	4b665cc04c
5:112174182 APC T>G	5	112174182	112174182	T	G	APC	c.2891T>G	NM_000038.5	NP_000029.2:p.(Leu964Ter)	NC_000005.9:g.112174182T>G	(Likely) pathogenic	1 lab	4b68a75537
2:152419151 NEB G>A	2	152419151	152419151	G	A	NEB	c.18865C>T	NM_001271208.1	NP_001258137.1:p.(Arg6289Ter)	NC_000002.11:g.152419151G>A	(Likely) pathogenic	1 lab	4b6a0a409f
17:76134666 TMC8 C>T	17	76134666	76134666	C	T	TMC8	c.1676C>T	NM_152468.5	NP_689681.2:p.(Ser559Phe)	NC_000017.10:g.76134666C>T	VUS	1 lab	4b710d06df
X:41201989 DDX3X G>C	X	41201989	41201989	G	C	DDX3X	c.444-1G>C	NM_001356.4	NP_001347.3:p.?	NC_000023.10:g.41201989G>C	(Likely) pathogenic	1 lab	4b7831c8a5
7:35293417 TBX20 A>G	7	35293417	35293417	A	G	TBX20	c.-186T>C	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35293417A>G	(Likely) benign	1 lab	4b785ef2af
7:19156593 TWIST1 G>A	7	19156593	19156593	G	A	TWIST1	c.352C>T	NM_000474.4	NP_000465.1:p.(Arg118Cys)	NC_000007.13:g.19156593G>A	(Likely) pathogenic	1 lab	4b7b2d3db5
17:42333075 SLC4A1 C>T	17	42333075	42333075	C	T	SLC4A1	c.1766G>A	NM_000342.3	NP_000333.1:p.(Arg589His)	NC_000017.10:g.42333075C>T	(Likely) pathogenic	1 lab	4b7d3d13cc
3:37061955 MLH1 G>A	3	37061955	37061955	G	A	MLH1	c.1038+1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37061955G>A	(Likely) pathogenic	1 lab	4b7d65f777
2:24433799 ITSN2 C>T	2	24433799	24433799	C	T	ITSN2	c.4065G>A	NM_001348181.2	NP_001335110.1:p.(Pro1355=)	NC_000002.11:g.24433799C>T	(Likely) benign	1 lab	074682a304
7:153750014 DPP6 G>A	7	153750014	153750014	G	A	DPP6	c.109G>A	NM_130797.4	NP_570629.2:p.(Gly37Ser)	NC_000007.13:g.153750014G>A	(Likely) benign	1 lab	4b8427ae4b
12:45751145 ANO6 C>T	12	45751145	45751145	C	T	ANO6	c.936C>T	NM_001025356.3	NP_001020527.2:p.(Ala312=)	NC_000012.11:g.45751145C>T	(Likely) benign	1 lab	4b84b414f1
15:63354804 TPM1 G>A	15	63354804	63354804	G	A	TPM1	c.732G>A	NM_001018005.1	NP_001018005.1:p.(Arg244=)	NC_000015.9:g.63354804G>A	(Likely) benign	1 lab	4b87407dde
17:41197775 BRCA1 C>T	17	41197775	41197775	C	T	BRCA1	c.5512G>A	NM_007294.4	NP_009225.1:p.(Val1838Met)	NC_000017.10:g.41197775C>T	VUS	1 lab	4b88a765fa
11:57367365 SERPING1 C>G	11	57367365	57367365	C	G	SERPING1	c.65C>G	NM_000062.3	NP_000053.2:p.(Ser22Ter)	NC_000011.9:g.57367365C>G	(Likely) pathogenic	1 lab	4b89e4fc01
6:32006975 TNXB C>T	6	32006975	32006975	C	T	TNXB				NC_000006.11:g.32006975C>T	(Likely) pathogenic	1 lab	4cb1170ed7
18:3142057 MYOM1 A>G	18	3142057	3142057	A	G	MYOM1	c.1905T>C	NM_003803.3	NP_003794.3:p.(Gly635=)	NC_000018.9:g.3142057A>G	(Likely) benign	1 lab	4b8c3938b1
12:102155509 GNPTAB G>A	12	102155509	102155509	G	A	GNPTAB	c.2748C>T	NM_024312.4	NP_077288.2:p.(Tyr916=)	NC_000012.11:g.102155509G>A	(Likely) benign	1 lab	4b8c404b94
2:179456937 TTN C>G	2	179456937	179456937	C	G	TTN	c.59694G>C	NM_001267550.2	NP_001254479.2:p.(Trp19898Cys)	NC_000002.11:g.179456937C>G	VUS	1 lab	4b8f14683a
17:42988700 GFAP C>A	17	42988700	42988700	C	A	GFAP	c.1031G>T	NM_002055.4	NP_002046.1:p.(Arg344Leu)	NC_000017.10:g.42988700C>A	(Likely) benign	1 lab	4b8f9d03d4
14:64669670 SYNE2 G>A	14	64669670	64669670	G	A	SYNE2	c.18190G>A	NM_182914.2	NP_878918.2:p.(Ala6064Thr)	NC_000014.8:g.64669670G>A	(Likely) benign	1 lab	4b9328273a
13:32930556 BRCA2 C>A	13	32930556	32930556	C	A	BRCA2	c.7436-9C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930556C>A	(Likely) benign	1 lab	4b978e0dbb
8:38287346 FGFR1 A>C	8	38287346	38287346	A	C	FGFR1	c.212T>G	NM_023110.3	NP_075598.2:p.(Val71Gly)	NC_000008.10:g.38287346A>C	VUS	1 lab	4b98994b5f
3:58089688 FLNB G>T	3	58089688	58089688	G	T	FLNB	c.1486G>T	NM_001457.3	NP_001448.2:p.(Gly496Cys)	NC_000003.11:g.58089688G>T	VUS	1 lab	4b989a1a9d
1:45798461 MUTYH G>A	1	45798461	45798461	G	A	MUTYH	c.550C>T	NM_001128425.1	NP_001121897.1:p.(Arg184Trp)	NC_000001.10:g.45798461G>A	VUS	1 lab	4b98d55e38
5:89925464 ADGRV1 T>G	5	89925464	89925464	T	G	ADGRV1	c.1839+108T>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89925464T>G	(Likely) benign	1 lab	074bce3595
5:161324208 GABRA1 C>T	5	161324208	161324208	C	T	GABRA1				NC_000005.9:g.161324208C>T	VUS	1 lab	4b99da9115
2:179433816 TTN A>G	2	179433816	179433816	A	G	TTN	c.77043T>C	NM_001267550.2	NP_001254479.2:p.(Tyr25681=)	NC_000002.11:g.179433816A>G	(Likely) benign	1 lab	4b9c1f1bc4
14:105168028 INF2 T>G	14	105168028	105168028	T	G	INF2	c.326T>G	NM_022489.4	NP_071934.3:p.(Met109Arg)	NC_000014.8:g.105168028T>G	(Likely) pathogenic	1 lab	4b9c1f3858
14:77765031 POMT2 C>T	14	77765031	77765031	C	T	POMT2				NC_000014.8:g.77765031C>T	(Likely) pathogenic	1 lab	4b9ef6c97f
6:76540244 MYO6 C>T	6	76540244	76540244	C	T	MYO6	c.373C>T	NM_004999.3	NP_004990.3:p.(Pro125Ser)	NC_000006.11:g.76540244C>T	VUS	1 lab	4ba5649998
1:215847454 USH2A T>G	1	215847454	215847454	T	G	USH2A	c.13799A>C	NM_206933.4	NP_996816.3:p.(Lys4600Thr)	NC_000001.10:g.215847454T>G	VUS	1 lab	4bab3a219b
14:64519667 SYNE2 G>C	14	64519667	64519667	G	C	SYNE2	c.9036G>C	NM_182914.2	NP_878918.2:p.(Trp3012Cys)	NC_000014.8:g.64519667G>C	VUS	1 lab	4bb2d3a360
3:148919979 CP A>G	3	148919979	148919979	A	G	CP	c.1258T>C	NM_000096.3	NP_000087.1:p.(Tyr420His)	NC_000003.11:g.148919979A>G	VUS	1 lab	4bb438e426
9:123782299 C5 G>A	9	123782299	123782299	G	A	C5	c.1461C>T	NM_001735.2	NP_001726.2:p.(Thr487=)	NC_000009.11:g.123782299G>A	(Likely) benign	1 lab	4bb5155c46
X:107683357 COL4A5 T>C	X	107683357	107683357	T	C	COL4A5	c.2T>C	NM_033380.3	NP_203699.1:p.(Met1?)	NC_000023.10:g.107683357T>C	(Likely) pathogenic	1 lab	4bb8245f6c
X:41002691 USP9X G>A	X	41002691	41002691	G	A	USP9X	c.1309G>A	NM_001039590.2	NP_001034679.2:p.(Ala437Thr)	NC_000023.10:g.41002691G>A	(Likely) benign	1 lab	4bb8ff5245
9:98239040 PTCH1 C>T	9	98239040	98239040	C	T	PTCH1	c.1602+1G>A	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98239040C>T	(Likely) pathogenic	1 lab	4bbf6bcbc0
11:17655839 OTOG A>T	11	17655839	17655839	A	T	OTOG				NC_000011.9:g.17655839A>T	(Likely) benign	1 lab	4bc22eb5a4
17:41244468 BRCA1 C>T	17	41244468	41244468	C	T	BRCA1	c.3080G>A	NM_007294.4	NP_009225.1:p.(Ser1027Asn)	NC_000017.10:g.41244468C>T	(Likely) benign	1 lab	4bc33c8c8c
12:52094974 SCN8A G>A	12	52094974	52094974	G	A	SCN8A	c.975G>A	NM_001330260.2	NP_001317189.1:p.(Gly325=)	NC_000012.11:g.52094974G>A	(Likely) benign	1 lab	4bc3f34e9d
17:18054449 MYO15A C>T	17	18054449	18054449	C	T	MYO15A	c.7499C>T	NM_016239.3	NP_057323.3:p.(Pro2500Leu)	NC_000017.10:g.18054449C>T	VUS	1 lab	4bd0635fee
4:114267059 ANK2 C>T	4	114267059	114267059	C	T	ANK2	c.4252C>T	NM_001148.4	NP_001139.3:p.(Arg1418Cys)	NC_000004.11:g.114267059C>T	VUS	1 lab	074c3d2bb8
11:123508962 SCN3B C>T	11	123508962	123508962	C	T	SCN3B	c.516G>A	NM_001040151.2	NP_001035241.1:p.(Trp172Ter)	NC_000011.9:g.123508962C>T	VUS	1 lab	4bc9051bd0
11:64572093 MEN1 G>A	11	64572093	64572093	G	A	MEN1	c.1546C>T	NM_130799.2	NP_570711.1:p.(Arg516Trp)	NC_000011.9:g.64572093G>A	VUS	1 lab	4bc9379d22
11:119213367 MFRP CAT>C	11	119213367	119213369	CAT	C	MFRP	c.1324_1325del	NM_031433.4	NP_113621.1:p.(Met442ValfsTer10)	NC_000011.9:g.119213368_119213369del	(Likely) pathogenic	1 lab	4bc9728136
3:64148707 PRICKLE2 C>T	3	64148707	64148707	C	T	PRICKLE2	c.243G>A	NM_198859.4	NP_942559.1:p.(Pro81=)	NC_000003.11:g.64148707C>T	(Likely) benign	1 lab	074db21a9c
12:6100974 VWF C>T	12	6100974	6100974	C	T	VWF	c.6798+11G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6100974C>T	(Likely) benign	1 lab	4bccb7c52e
1:3328355 PRDM16 A>C	1	3328355	3328355	A	C	PRDM16	c.1594A>C	NM_022114.3	NP_071397.3:p.(Thr532Pro)	NC_000001.10:g.3328355A>C	VUS	1 lab	4bccffee47
1:228468410 OBSCN G>A	1	228468410	228468410	G	A	OBSCN	c.9397G>A	NM_001271223.2	NP_001258152.2:p.(Val3133Met)	NC_000001.10:g.228468410G>A	(Likely) benign	1 lab	4bcf4de383
1:196883678 CFHR4 C>T	1	196883678	196883678	C	T	CFHR4	c.1234C>T	NM_001201550.3	NP_001188479.1:p.(Arg412Trp)	NC_000001.10:g.196883678C>T	(Likely) benign	1 lab	4bcf95b950
22:32487744 SLC5A1 C>T	22	32487744	32487744	C	T	SLC5A1	c.1275C>T	NM_000343.4	NP_000334.1:p.(Ala425=)	NC_000022.10:g.32487744C>T	(Likely) benign	1 lab	0753a0521e
5:126113325 LMNB1 G>C	5	126113325	126113325	G	C	LMNB1	c.125G>C	NM_005573.4	NP_005564.1:p.(Arg42Pro)	NC_000005.9:g.126113325G>C	(Likely) pathogenic	1 lab	4bd16c0b32
16:21712296 OTOA G>T	16	21712296	21712296	G	T	OTOA	c.928G>T	NM_144672.4	NP_653273.3:p.(Glu310Ter)	NC_000016.9:g.21712296G>T	(Likely) pathogenic	1 lab	4bdac30fcb
2:26781559 OTOF C>A	2	26781559	26781559	C	A	OTOF	c.-120G>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26781559C>A	(Likely) benign	1 lab	4bdcd1dd1c
X:131218561 FRMD7 A>G	X	131218561	131218561	A	G	FRMD7	c.698T>C	NM_194277.2	NP_919253.1:p.(Phe233Ser)	NC_000023.10:g.131218561A>G	VUS	1 lab	4bdd877343
12:52082613 SCN8A A>G	12	52082613	52082613	A	G	SCN8A	c.686A>G	NM_014191.3	NP_055006.1:p.(Lys229Arg)	NC_000012.11:g.52082613A>G	VUS	1 lab	4bdff206e5
14:69358837 ACTN1 G>A	14	69358837	69358837	G	A	ACTN1	c.1019C>T	NM_001130004.2	NP_001123476.1:p.(Thr340Met)	NC_000014.8:g.69358837G>A	(Likely) pathogenic	1 lab	4be2c5b7ea
18:3141984 MYOM1 G>C	18	3141984	3141984	G	C	MYOM1	c.1978C>G	NM_003803.3	NP_003794.3:p.(Pro660Ala)	NC_000018.9:g.3141984G>C	(Likely) benign	1 lab	0753d9b4c7
16:89612260 SPG7 A>AT	16	89612260	89612265	A	AT	SPG7	c.1450-801dup	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89612265dup	(Likely) benign	1 lab	6b3f460de6
12:80623121 OTOGL C>T	12	80623121	80623121	C	T	OTOGL	c.547C>T	NM_173591.3	NP_775862.3:p.(Arg183Ter)	NC_000012.11:g.80623121C>T	(Likely) pathogenic	1 lab	4be52a25fc
21:44488727 CBS T>C	21	44488727	44488727	T	C	CBS	c.210-2A>G	NM_000071.2	NP_000062.1:p.?	NC_000021.8:g.44488727T>C	(Likely) pathogenic	1 lab	4bec26f0ea
7:119914902 KCND2 G>A	7	119914902	119914902	G	A	KCND2	c.216G>A	NM_012281.2	NP_036413.1:p.(Arg72=)	NC_000007.13:g.119914902G>A	(Likely) benign	1 lab	4beccac374
20:21686559 PAX1 T>C	20	21686559	21686559	T	C	PAX1	c.209T>C	NM_006192.5	NP_006183.2:p.(Leu70Pro)	NC_000020.10:g.21686559T>C	(Likely) benign	1 lab	075a1f1e4b
4:654368 PDE6B T>C	4	654368	654368	T	C	PDE6B	c.1580T>C	NM_000283.4	NP_000274.3:p.(Leu527Pro)	NC_000004.11:g.654368T>C	(Likely) pathogenic	1 lab	4befc597f6
5:134229250 TXNDC15 C>A	5	134229250	134229250	C	A	TXNDC15	c.660C>A	NM_024715.3	NP_078991.3:p.(Cys220Ter)	NC_000005.9:g.134229250C>A	(Likely) pathogenic	1 lab	075a385e72
X:99657726 PCDH19 G>T	X	99657726	99657726	G	T	PCDH19	c.2412C>A	NM_001184880.1	NP_001171809.1:p.(Cys804Ter)	NC_000023.10:g.99657726G>T	(Likely) pathogenic	1 lab	4bf1cc991c
12:88535167 CEP290 T>G	12	88535167	88535167	T	G	CEP290	c.-27-56A>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88535167T>G	(Likely) benign	1 lab	075b4814b3
15:89392747 ACAN C>T	15	89392747	89392747	C	T	ACAN	c.1811C>T	NM_001369268.1	NP_001356197.1:p.(Thr604Met)	NC_000015.9:g.89392747C>T	VUS	1 lab	4bf5ec94a9
2:228175538 COL4A3 CT>C	2	228175538	228175539	CT	C	COL4A3	c.4803del	NM_000091.4	NP_000082.2:p.(Gly1602AlafsTer13)	NC_000002.11:g.228175539del	(Likely) pathogenic	1 lab	4bfa40cb35
3:37035118 MLH1 G>T	3	37035118	37035118	G	T	MLH1	c.80G>T	NM_000249.4	NP_000240.1:p.(Arg27Leu)	NC_000003.11:g.37035118G>T	VUS	1 lab	4bfba3b795
2:47706634 MSH2 A>G	2	47706634	47706634	A	G	MSH2	c.2458+976A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47706634A>G	(Likely) pathogenic	1 lab	4bfcbeffd9
12:977470 WNK1 C>T	12	977470	977470	C	T	WNK1	c.2578C>T	NM_001184985.1	NP_001171914.1:p.(Arg860Trp)	NC_000012.11:g.977470C>T	VUS	1 lab	4bfd19b74e
15:72030066 THSD4 C>T	15	72030066	72030066	C	T	THSD4	c.1631-5C>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72030066C>T	(Likely) benign	1 lab	17ec750978
13:32914472 BRCA2 C>T	13	32914472	32914472	C	T	BRCA2	c.5980C>T	NM_000059.3	NP_000050.2:p.(Gln1994Ter)	NC_000013.10:g.32914472C>T	(Likely) pathogenic	1 lab	4bff12df91
13:32911544 BRCA2 A>C	13	32911544	32911544	A	C	BRCA2	c.3052A>C	NM_000059.3	NP_000050.2:p.(Lys1018Gln)	NC_000013.10:g.32911544A>C	(Likely) benign	1 lab	4c00e14f3e
16:31477185 ARMC5 C>T	16	31477185	31477185	C	T	ARMC5	c.1879C>T	NM_001105247.2	NP_001098717.1:p.(Gln627Ter)	NC_000016.9:g.31477185C>T	(Likely) pathogenic	1 lab	4c01492adf
7:50566846 DDC C>T	7	50566846	50566846	C	T	DDC	c.876G>A	NM_000790.3	NP_000781.1:p.(Glu292=)	NC_000007.13:g.50566846C>T	VUS	1 lab	4c0151de88
2:71163086 ATP6V1B1 T>C	2	71163086	71163086	T	C	ATP6V1B1	c.2T>C	NM_001692.3	NP_001683.2:p.(Met1?)	NC_000002.11:g.71163086T>C	(Likely) benign	1 lab	4c051cbcf5
1:228492220 OBSCN C>T	1	228492220	228492220	C	T	OBSCN	c.14219C>T	NM_001271223.2	NP_001258152.2:p.(Ser4740Leu)	NC_000001.10:g.228492220C>T	(Likely) benign	1 lab	075cc2c31b
10:75758134 VCL G>A	10	75758134	75758134	G	A	VCL	c.168+1G>A	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75758134G>A	VUS	1 lab	4c0ae3b2d8
21:45759020 CFAP410 C>T	21	45759020	45759020	C	T	CFAP410	c.58G>A	NM_004928.3	NP_004919.1:p.(Val20Met)	NC_000021.8:g.45759020C>T	VUS	1 lab	4c0b589bfd
7:92078137 GATAD1 A>G	7	92078137	92078137	A	G	GATAD1	c.321A>G	NM_021167.4	NP_066990.3:p.(Glu107=)	NC_000007.13:g.92078137A>G	(Likely) benign	1 lab	4c0c20877b
11:86662602 FZD4 A>G	11	86662602	86662602	A	G	FZD4	c.1196T>C	NM_012193.4	NP_036325.2:p.(Leu399Ser)	NC_000011.9:g.86662602A>G	VUS	1 lab	4c0d2fab2a
3:8775601 CAV3 C>T	3	8775601	8775601	C	T	CAV3	c.39C>T	NM_001234.4	NP_001225.1:p.(Ile13=)	NC_000003.11:g.8775601C>T	(Likely) benign	1 lab	4c26d51830
3:37089157 MLH1 T>C	3	37089157	37089157	T	C	MLH1	c.1879T>C	NM_000249.3	NP_000240.1:p.(Ser627Pro)	NC_000003.11:g.37089157T>C	(Likely) pathogenic	1 lab	4c17a20ee6
19:18273256 PIK3R2 G>A	19	18273256	18273256	G	A	PIK3R2	c.1049G>A	NM_005027.4	NP_005018.2:p.(Gly350Asp)	NC_000019.9:g.18273256G>A	VUS	1 lab	4c1a21c7c0
X:128710028 OCRL A>G	X	128710028	128710028	A	G	OCRL	c.1868A>G	NM_000276.4	NP_000267.2:p.(Tyr623Cys)	NC_000023.10:g.128710028A>G	VUS	1 lab	4c1ce506dc
2:109524517 EDAR G>T	2	109524517	109524517	G	T	EDAR	c.804-42C>A	NM_022336.4	NP_071731.1:p.?	NC_000002.11:g.109524517G>T	(Likely) benign	1 lab	37e790eaee
7:105195606 RINT1 C>T	7	105195606	105195606	C	T	RINT1	c.1603C>T	NM_021930.4	NP_068749.3:p.(Arg535Ter)	NC_000007.13:g.105195606C>T	(Likely) pathogenic	1 lab	4c1d36c2d0
3:49141859 QARS1 G>A	3	49141859	49141859	G	A	QARS1	c.163C>T	NM_005051.3	NP_005042.1:p.(Leu55=)	NC_000003.11:g.49141859G>A	(Likely) benign	1 lab	0760b7fe25
11:61548265 MYRF G>A	11	61548265	61548265	G	A	MYRF	c.2486+1G>A	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61548265G>A	(Likely) pathogenic	1 lab	4c2101af2a
19:7623824 PNPLA6 C>A	19	7623824	7623824	C	A	PNPLA6	c.3486C>A	NM_001166114.2	NP_001159586.1:p.(Asp1162Glu)	NC_000019.9:g.7623824C>A	(Likely) pathogenic	1 lab	4c224e4680
20:52790272 CYP24A1 A>C	20	52790272	52790272	A	C	CYP24A1	c.-154T>G	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52790272A>C	(Likely) benign	1 lab	4c2507c940
14:50626248 SOS2 C>A	14	50626248	50626248	C	A	SOS2	c.1753G>T	NM_006939.4	NP_008870.2:p.(Val585Phe)	NC_000014.8:g.50626248C>A	VUS	1 lab	4c25b0a87f
10:73499464 CDH23 T>A	10	73499464	73499464	T	A	CDH23	c.4423T>A	NM_022124.5	NP_071407.4:p.(Ser1475Thr)	NC_000010.10:g.73499464T>A	VUS	1 lab	4c28c65dbc
X:41060541 USP9X T>A	X	41060541	41060541	T	A	USP9X	c.4824+8T>A	NM_001039590.2	NP_001034679.2:p.?	NC_000023.10:g.41060541T>A	(Likely) benign	1 lab	4c28f4c5b2
15:42693987 CAPN3 CAT>C	15	42693987	42693989	CAT	C	CAPN3	c.1504_1505del	NM_000070.2	NP_000061.1:p.(Ile502TrpfsTer74)	NC_000015.9:g.42693988_42693989del	(Likely) pathogenic	1 lab	4c2f31a003
17:16761814 MISSING T>Alt too long to show for this DUP	17	16761814	17046434	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.16761815_17046434dup	VUS	1 lab	196ec08553
1:215844645 USH2A A>T	1	215844645	215844645	A	T	USH2A	c.13812-10T>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215844645A>T	VUS	1 lab	4c33fc59ea
7:100228523 TFR2 C>T	7	100228523	100228523	C	T	TFR2	c.1259G>A	NM_003227.3	NP_003218.2:p.(Arg420His)	NC_000007.13:g.100228523C>T	VUS	1 lab	4c35c270af
1:169513583 F5 G>T	1	169513583	169513583	G	T	F5	c.1926C>A	NM_000130.4	NP_000121.2:p.(Thr642=)	NC_000001.10:g.169513583G>T	(Likely) benign	1 lab	4c3643d4ee
1:120491765 NOTCH2 CAG>C	1	120491765	120491769	CAG	C	NOTCH2	c.2480-18_2480-17del	NM_024408.3	NP_077719.2:p.?	NC_000001.10:g.120491768_120491769del	(Likely) benign	1 lab	4c36d950ee
22:21105978 PI4KA G>A	22	21105978	21105978	G	A	PI4KA	c.3053C>T	NM_058004.3	NP_477352.3:p.(Ser1018Leu)	NC_000022.10:g.21105978G>A	VUS	1 lab	4c3aebdf5a
18:19378049 MIB1 T>A	18	19378049	19378049	T	A	MIB1				NC_000018.9:g.19378049T>A	VUS	1 lab	4c3b3f423d
7:94053755 COL1A2 G>A	7	94053755	94053755	G	A	COL1A2	c.2673G>A	NM_000089.3	NP_000080.2:p.(Val891=)	NC_000007.13:g.94053755G>A	(Likely) pathogenic	1 lab	4c3f335dca
1:53679182 CPT2 G>A	1	53679182	53679182	G	A	CPT2	c.1892G>A	NM_000098.2	NP_000089.1:p.(Arg631His)	NC_000001.10:g.53679182G>A	VUS	1 lab	4c3ff12554
18:44159672 LOXHD1 A>C	18	44159672	44159672	A	C	LOXHD1	c.1730T>G	NM_144612.6	NP_653213.6:p.(Leu577Arg)	NC_000018.9:g.44159672A>C	VUS	1 lab	4c4094fae3
2:32289130 SPAST G>C	2	32289130	32289130	G	C	SPAST	c.230G>C	NM_014946.4	NP_055761.2:p.(Trp77Ser)	NC_000002.11:g.32289130G>C	VUS	1 lab	4c4311cf4c
19:46094168 GPR4 G>A	19	46094168	46094168	G	A	GPR4	c.957C>T	NM_005282.2	NP_005273.1:p.(Ala319=)	NC_000019.9:g.46094168G>A	(Likely) benign	1 lab	4c4397ba88
4:88996845 PKD2 G>C	4	88996845	88996845	G	C	PKD2	c.2906G>C	NM_000297.4	NP_000288.1:p.(Ter969SerextTer12)	NC_000004.11:g.88996845G>C	(Likely) pathogenic	1 lab	4c4734c7c5
4:39219680 WDR19 C>G	4	39219680	39219680	C	G	WDR19	c.1434C>G	NM_025132.3	NP_079408.3:p.(Ile478Met)	NC_000004.11:g.39219680C>G	VUS	1 lab	4c49abff0a
12:52100314 SCN8A A>G	12	52100314	52100314	A	G	SCN8A	c.1450A>G	NM_001330260.2	NP_001317189.1:p.(Ser484Gly)	NC_000012.11:g.52100314A>G	VUS	1 lab	4c4b80673d
3:43618325 ANO10 C>G	3	43618325	43618325	C	G	ANO10	c.1021G>C	NM_018075.3	NP_060545.3:p.(Val341Leu)	NC_000003.11:g.43618325C>G	VUS	1 lab	4c4d3ab001
6:143094143 HIVEP2 T>A	6	143094143	143094143	T	A	HIVEP2	c.1733A>T	NM_006734.3	NP_006725.3:p.(Tyr578Phe)	NC_000006.11:g.143094143T>A	VUS	1 lab	4c50021e4f
1:215802298 USH2A A>G	1	215802298	215802298	A	G	USH2A	c.15377T>C	NM_206933.2	NP_996816.2:p.(Ile5126Thr)	NC_000001.10:g.215802298A>G	(Likely) benign	1 lab	4c54090da5
6:25972290 TRIM38 A>T	6	25972290	25972290	A	T	TRIM38	c.701A>T	NM_006355.5	NP_006346.1:p.(Glu234Val)	NC_000006.11:g.25972290A>T	VUS	1 lab	4c551f42d1
14:21161833 ANG A>G	14	21161833	21161833	A	G	ANG	c.110A>G	NM_001145.4	NP_001136.1:p.(His37Arg)	NC_000014.8:g.21161833A>G	VUS	1 lab	4c5a4d3e3e
4:187197478 F11 G>A	4	187197478	187197478	G	A	F11	c.689G>A	NM_000128.4	NP_000119.1:p.(Cys230Tyr)	NC_000004.11:g.187197478G>A	(Likely) pathogenic	1 lab	4c5b53cf0d
1:94546780 ABCA4 C>G	1	94546780	94546780	C	G	ABCA4				NC_000001.10:g.94546780C>G	(Likely) pathogenic	1 lab	4d4e91dd82
19:13342519 CACNA1A C>G	19	13342519	13342519	C	G	CACNA1A	c.5400+5G>C	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13342519C>G	VUS	1 lab	4c5d7c126a
7:114210912 FOXP2 T>G	7	114210912	114210912	T	G	FOXP2	c.309T>G	NM_148898.3	NP_683696.2:p.(Asp103Glu)	NC_000007.13:g.114210912T>G	VUS	1 lab	4c5dcba9e3
6:32007887 TNXB G>T	6	32007887	32007887	G	T	TNXB				NC_000006.11:g.32007887G>T	(Likely) pathogenic	1 lab	4c606e3dc3
3:114058266 ZBTB20 C>A	3	114058266	114058266	C	A	ZBTB20	c.1812G>T	NM_001348800.3	NP_001335729.1:p.(Lys604Asn)	NC_000003.11:g.114058266C>A	VUS	1 lab	4c61f394ae
1:35226813 GJB4 C>G	1	35226813	35226813	C	G	GJB4	c.-43C>G	NM_153212.2	NP_694944.1:p.?	NC_000001.10:g.35226813C>G	(Likely) benign	1 lab	4c62a47a1b
3:38674671 SCN5A C>G	3	38674671	38674671	C	G	SCN5A	c.128G>C	NM_198056.2	NP_932173.1:p.(Arg43Pro)	NC_000003.11:g.38674671C>G	VUS	1 lab	4c664588fb
3:50387402 NPRL2 T>A	3	50387402	50387402	T	A	NPRL2	c.130A>T	NM_006545.5	NP_006536.3:p.(Ile44Phe)	NC_000003.11:g.50387402T>A	VUS	1 lab	4c67495a90
9:23762091 ELAVL2 G>A	9	23762091	23762091	G	A	ELAVL2	c.229C>T	NM_001351455.1	NP_001338384.1:p.(Gln77Ter)	NC_000009.11:g.23762091G>A	VUS	1 lab	4c6d06c9af
13:32911580 BRCA2 T>G	13	32911580	32911580	T	G	BRCA2	c.3088T>G	NM_000059.3	NP_000050.2:p.(Phe1030Val)	NC_000013.10:g.32911580T>G	(Likely) benign	1 lab	4c6e4efd97
5:112128144 APC G>T	5	112128144	112128144	G	T	APC	c.647G>T	NM_000038.6	NP_000029.2:p.(Arg216Leu)	NC_000005.9:g.112128144G>T	(Likely) benign	1 lab	4c6e4f8680
2:234240339 SAG G>A	2	234240339	234240339	G	A	SAG	c.787G>A	NM_000541.4	NP_000532.2:p.(Val263Met)	NC_000002.11:g.234240339G>A	VUS	1 lab	4c6fb5aa05
12:49580423 TUBA1A A>G	12	49580423	49580423	A	G	TUBA1A	c.197T>C	NM_006009.4	NP_006000.2:p.(Val66Ala)	NC_000012.11:g.49580423A>G	(Likely) pathogenic	1 lab	4c6fd3cd54
1:231488610 SPRTN C>T	1	231488610	231488610	C	T	SPRTN	c.973C>T	NM_032018.5	NP_114407.3:p.(Gln325Ter)	NC_000001.10:g.231488610C>T	(Likely) pathogenic	1 lab	4c777e086f
X:79978252 BRWD3 C>T	X	79978252	79978252	C	T	BRWD3	c.1685G>A	NM_153252.5	NP_694984.5:p.(Arg562His)	NC_000023.10:g.79978252C>T	VUS	1 lab	4c7a903314
X:31947819 DMD T>C	X	31947819	31947819	T	C	DMD	c.6806A>G	NM_004006.2	NP_003997.1:p.(Gln2269Arg)	NC_000023.10:g.31947819T>C	VUS	1 lab	4c8185ecb7
X:107829892 COL4A5 CA>C	X	107829892	107829893	CA	C	COL4A5	c.1081del	NM_033380.2	NP_203699.1:p.(Ile361LeufsTer113)	NC_000023.10:g.107829893del	(Likely) pathogenic	1 lab	4c8220184e
6:49412429 MMUT A>T	6	49412429	49412429	A	T	MMUT	c.1599T>A	NM_000255.4	NP_000246.2:p.(Cys533Ter)	NC_000006.11:g.49412429A>T	(Likely) pathogenic	1 lab	4c82d48a0e
2:26717944 OTOF G>A	2	26717944	26717944	G	A	OTOF	c.766-3C>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26717944G>A	(Likely) benign	1 lab	4c82eb16d8
11:108141773 ATM T>C	11	108141773	108141773	T	C	ATM	c.2839-18T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108141773T>C	(Likely) benign	1 lab	4c85b6d815
6:112443287 LAMA4 C>T	6	112443287	112443287	C	T	LAMA4				NC_000006.11:g.112443287C>T	VUS	1 lab	4c87046387
2:228145668 COL4A3 G>A	2	228145668	228145668	G	A	COL4A3	c.2434G>A	NM_000091.4	NP_000082.2:p.(Gly812Ser)	NC_000002.11:g.228145668G>A	VUS	1 lab	4c8812fc62
2:26699033 OTOF G>A	2	26699033	26699033	G	A	OTOF	c.2829C>T	NM_194248.2	NP_919224.1:p.(Gly943=)	NC_000002.11:g.26699033G>A	(Likely) benign	1 lab	4c88f2f036
7:81641571 CACNA2D1 A>G	7	81641571	81641571	A	G	CACNA2D1	c.1273-12T>C	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81641571A>G	(Likely) benign	1 lab	4c88ff12c9
5:149749091 TCOF1 G>A	5	149749091	149749091	G	A	TCOF1	c.566-1G>A	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149749091G>A	(Likely) pathogenic	1 lab	4c8a9ac8bc
X:99662806 PCDH19 C>A	X	99662806	99662806	C	A	PCDH19	c.790G>T	NM_001184880.1	NP_001171809.1:p.(Asp264Tyr)	NC_000023.10:g.99662806C>A	(Likely) pathogenic	1 lab	4c8be1fcc6
5:112175015 APC C>T	5	112175015	112175015	C	T	APC	c.3724C>T	NM_000038.5	NP_000029.2:p.(Gln1242Ter)	NC_000005.9:g.112175015C>T	(Likely) pathogenic	1 lab	4c8d9c1619
8:102678972 GRHL2 G>T	8	102678972	102678972	G	T	GRHL2	c.*41G>T	NM_024915.3	NP_079191.2:p.?	NC_000008.10:g.102678972G>T	(Likely) benign	1 lab	4c9308a6d1
5:145719818 POU4F3 C>CT	5	145719818	145719819	C	CT	POU4F3	c.828_829insT	NM_002700.2	NP_002691.1:p.(Lys277Ter)	NC_000005.9:g.145719818_145719819insT	(Likely) pathogenic	1 lab	4c93abcc1e
14:90423131 TDP1 C>T	14	90423131	90423131	C	T	TDP1	c.-21C>T	NM_018319.3	NP_060789.2:p.?	NC_000014.8:g.90423131C>T	(Likely) benign	1 lab	4c9650e135
3:37067281 MLH1 C>T	3	37067281	37067281	C	T	MLH1	c.1192C>T	NM_000249.4	NP_000240.1:p.(Gln398Ter)	NC_000003.11:g.37067281C>T	(Likely) pathogenic	1 lab	4c98c155d7
21:47419116 COL6A1 G>A	21	47419116	47419116	G	A	COL6A1	c.1724G>A	NM_001848.3	NP_001839.2:p.(Gly575Asp)	NC_000021.8:g.47419116G>A	VUS	1 lab	4c99a3ab28
13:32907094 BRCA2 A>G	13	32907094	32907094	A	G	BRCA2	c.1479A>G	NM_000059.3	NP_000050.2:p.(Pro493=)	NC_000013.10:g.32907094A>G	(Likely) benign	1 lab	4c9ca6c5c0
15:43023255 CDAN1 T>C	15	43023255	43023255	T	C	CDAN1	c.1875A>G	NM_138477.3	NP_612486.2:p.(Gln625=)	NC_000015.9:g.43023255T>C	(Likely) benign	1 lab	4c9d8d5084
22:30035070 NF2 A>G	22	30035070	30035070	A	G	NF2	c.241-9A>G	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30035070A>G	(Likely) pathogenic	1 lab	076792d281
18:19378037 MIB1 T>TC	18	19378037	19378041	T	TC	MIB1	c.1093-4dup	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19378041dup	(Likely) benign	1 lab	4ca3ddef71
9:133748415 ABL1 T>G	9	133748415	133748415	T	G	ABL1	c.1133T>G	NM_007313.2	NP_009297.2:p.(Phe378Cys)	NC_000009.11:g.133748415T>G	VUS	1 lab	4ca467f50c
2:206921360 INO80D G>A	2	206921360	206921360	G	A	INO80D	c.526C>T	NM_017759.4	NP_060229.3:p.(Gln176Ter)	NC_000002.11:g.206921360G>A	VUS	1 lab	4ca50f66b2
9:14846063 FREM1 G>A	9	14846063	14846063	G	A	FREM1	c.1288C>T	NM_144966.5	NP_659403.4:p.(Arg430Ter)	NC_000009.11:g.14846063G>A	(Likely) pathogenic	1 lab	076ef6a593
19:50823521 KCNC3 C>T	19	50823521	50823521	C	T	KCNC3	c.2256G>A	NM_004977.3	NP_004968.2:p.(Ala752=)	NC_000019.9:g.50823521C>T	VUS	1 lab	076f50396c
1:155448838 ASH1L T>C	1	155448838	155448838	T	C	ASH1L	c.3823A>G	NM_018489.3	NP_060959.2:p.(Lys1275Glu)	NC_000001.10:g.155448838T>C	VUS	1 lab	4ca652e58e
X:38144822 RPGR C>T	X	38144822	38144822	C	T	RPGR	c.3430G>A	NM_001034853.1	NP_001030025.1:p.(Val1144Ile)	NC_000023.10:g.38144822C>T	(Likely) benign	1 lab	4ca6c885d7
1:179520448 NPHS2 C>T	1	179520448	179520448	C	T	NPHS2	c.1012G>A	NM_014625.3	NP_055440.1:p.(Val338Met)	NC_000001.10:g.179520448C>T	VUS	1 lab	4ca9a6a51f
3:37090090 MLH1 T>C	3	37090090	37090090	T	C	MLH1				NC_000003.11:g.37090090T>C	(Likely) pathogenic	1 lab	4caa122cd0
9:13126735 MPDZ C>G	9	13126735	13126735	C	G	MPDZ				NC_000009.11:g.13126735C>G	VUS	1 lab	4caa13661c
2:20166621 WDR35 C>G	2	20166621	20166621	C	G	WDR35	c.1058G>C	NM_001006657.2	NP_001006658.1:p.(Arg353Pro)	NC_000002.11:g.20166621C>G	(Likely) benign	1 lab	0775854c56
19:35775913 HAMP C>G	19	35775913	35775913	C	G	HAMP	c.223C>G	NM_021175.3	NP_066998.1:p.(Arg75Gly)	NC_000019.9:g.35775913C>G	VUS	1 lab	4caea23e3a
14:23886664 MYH7 A>C	14	23886664	23886664	A	C	MYH7	c.4353+48T>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886664A>C	(Likely) benign	1 lab	4cb350230c
19:1221881 STK11 G>A	19	1221881	1221881	G	A	STK11	c.863-67G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1221881G>A	(Likely) benign	1 lab	4cb485a545
11:108151804 ATM T>G	11	108151804	108151804	T	G	ATM	c.3485T>G	NM_000051.4	NP_000042.3:p.(Leu1162Ter)	NC_000011.9:g.108151804T>G	(Likely) pathogenic	1 lab	4cb8592228
4:155507652 FGA G>C	4	155507652	155507652	G	C	FGA	c.929C>G	NM_000508.4	NP_000499.1:p.(Pro310Arg)	NC_000004.11:g.155507652G>C	(Likely) benign	1 lab	4cbd297eac
2:167108327 SCN9A T>A	2	167108327	167108327	T	A	SCN9A	c.3387A>T	NM_002977.3	NP_002968.1:p.(Glu1129Asp)	NC_000002.11:g.167108327T>A	(Likely) benign	1 lab	4cbdf3eefc
15:91303887 BLM G>A	15	91303887	91303887	G	A	BLM	c.1284G>A	NM_000057.2	NP_000048.1:p.(Trp428Ter)	NC_000015.9:g.91303887G>A	(Likely) pathogenic	1 lab	4cbe6e9645
2:166848782 SCN1A G>A	2	166848782	166848782	G	A	SCN1A	c.5003C>T	NM_001165963.1	NP_001159435.1:p.(Pro1668Leu)	NC_000002.11:g.166848782G>A	(Likely) pathogenic	1 lab	4cc1e2c0ae
10:102769109 PDZD7 T>A	10	102769109	102769109	T	A	PDZD7	c.2618-2A>T	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102769109T>A	(Likely) pathogenic	1 lab	4cc25fd2c3
X:108904871 ACSL4 C>T	X	108904871	108904871	C	T	ACSL4	c.1586G>A	NM_004458.2	NP_004449.1:p.(Arg529His)	NC_000023.10:g.108904871C>T	(Likely) pathogenic	1 lab	4cc37a746b
12:22016004 ABCC9 G>GA	12	22016004	22016015	G	GA	ABCC9	c.2238-17dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22016015dup	(Likely) benign	1 lab	196f9936b2
3:119634903 GSK3B C>T	3	119634903	119634903	C	T	GSK3B	c.596G>A	NM_001146156.2	NP_001139628.1:p.(Cys199Tyr)	NC_000003.11:g.119634903C>T	VUS	1 lab	4cc3db242c
4:16014900 PROM1 G>A	4	16014900	16014900	G	A	PROM1	c.1139C>T	NM_006017.2	NP_006008.1:p.(Ala380Val)	NC_000004.11:g.16014900G>A	VUS	1 lab	4cc473342c
1:43395556 SLC2A1 G>A	1	43395556	43395556	G	A	SLC2A1	c.667C>T	NM_006516.4	NP_006507.2:p.(Arg223Trp)	NC_000001.10:g.43395556G>A	(Likely) pathogenic	1 lab	4cc865bbc7
20:42744392 JPH2 C>A	20	42744392	42744392	C	A	JPH2	c.1923G>T	NM_020433.4	NP_065166.2:p.(Glu641Asp)	NC_000020.10:g.42744392C>A	(Likely) benign	1 lab	4ccab6a446
10:121411360 BAG3 G>T	10	121411360	121411360	G	T	BAG3	c.173G>T	NM_004281.4	NP_004272.2:p.(Gly58Val)	NC_000010.10:g.121411360G>T	VUS	1 lab	4ccf208893
1:228555613 OBSCN G>A	1	228555613	228555613	G	A	OBSCN	c.22526G>A	NM_001271223.2	NP_001258152.2:p.(Arg7509His)	NC_000001.10:g.228555613G>A	VUS	1 lab	4ccf6f9d74
1:156105962 LMNA A>G	1	156105962	156105962	A	G	LMNA	c.1158-43A>G	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105962A>G	(Likely) benign	1 lab	4cd3d20c3b
12:49435059 KMT2D G>A	12	49435059	49435059	G	A	KMT2D	c.6494C>T	NM_003482.3	NP_003473.3:p.(Pro2165Leu)	NC_000012.11:g.49435059G>A	VUS	1 lab	4cd4927ea7
6:43591669 GTPBP2 C>T	6	43591669	43591669	C	T	GTPBP2	c.1236+1G>A	NM_019096.3	NP_061969.3:p.?	NC_000006.11:g.43591669C>T	VUS	1 lab	4cd6cc5e7a
11:120996309 TECTA C>T	11	120996309	120996309	C	T	TECTA				NC_000011.9:g.120996309C>T	VUS	1 lab	4cd896fe1a
17:41246623 BRCA1 T>C	17	41246623	41246623	T	C	BRCA1	c.925A>G	NM_007294.4	NP_009225.1:p.(Lys309Glu)	NC_000017.10:g.41246623T>C	VUS	1 lab	4cdcc89435
5:112128197 APC CT>C	5	112128197	112128201	CT	C	APC	c.704del	NM_000038.6	NP_000029.2:p.(Leu235TyrfsTer58)	NC_000005.9:g.112128201del	(Likely) pathogenic	1 lab	4ce547f500
7:128487860 FLNC A>C	7	128487860	128487860	A	C	FLNC	c.4398A>C	NM_001458.5	NP_001449.3:p.(Thr1466=)	NC_000007.13:g.128487860A>C	(Likely) benign	1 lab	4ce92c67f7
5:169144403 DOCK2 C>T	5	169144403	169144403	C	T	DOCK2	c.2047C>T	NM_004946.2	NP_004937.1:p.(Leu683Phe)	NC_000005.9:g.169144403C>T	VUS	1 lab	4cf8181186
22:32266729 DEPDC5 A>G	22	32266729	32266729	A	G	DEPDC5	c.3484A>G	NM_001242896.1	NP_001229825.1:p.(Ser1162Gly)	NC_000022.10:g.32266729A>G	VUS	1 lab	4d0092c751
22:32211202 DEPDC5 A>G	22	32211202	32211202	A	G	DEPDC5	c.1666+4A>G	NM_001242896.1	NP_001229825.1:p.?	NC_000022.10:g.32211202A>G	VUS	1 lab	4d0209cdee
17:79990655 RAC3 C>G	17	79990655	79990655	C	G	RAC3	c.176C>G	NM_005052.3	NP_005043.1:p.(Ala59Gly)	NC_000017.10:g.79990655C>G	(Likely) pathogenic	1 lab	4d038d32aa
5:70944978 MCCC2 A>C	5	70944978	70944978	A	C	MCCC2	c.1271A>C	NM_022132.4	NP_071415.1:p.(Lys424Thr)	NC_000005.9:g.70944978A>C	VUS	1 lab	4d0a56c6a1
3:10400548 ATP2B2 C>A	3	10400548	10400548	C	A	ATP2B2	c.1963G>T	NM_001001331.2	NP_001001331.1:p.(Glu655Ter)	NC_000003.11:g.10400548C>A	(Likely) pathogenic	1 lab	4d0b31dc04
1:226567273 PARP1 C>T	1	226567273	226567273	C	T	PARP1	c.1612+1G>A	NM_001618.3	NP_001609.2:p.?	NC_000001.10:g.226567273C>T	VUS	1 lab	4d0b3ce050
4:126328150 FAT4 C>A	4	126328150	126328150	C	A	FAT4	c.5423C>A	NM_001291303.1	NP_001278232.1:p.(Ser1808Tyr)	NC_000004.11:g.126328150C>A	(Likely) pathogenic	1 lab	4d0bbe3038
6:152674807 SYNE1 CCAGTATCT>C	6	152674807	152674816	CCAGTATCT	C	SYNE1	c.10991_10998del	NM_182961.4	NP_892006.3:p.(Glu3664GlyfsTer53)	NC_000006.11:g.152674809_152674816del	(Likely) pathogenic	1 lab	4d0e527b50
10:89711876 PTEN G>T	10	89711876	89711876	G	T	PTEN	c.494G>T	NM_000314.4	NP_000305.3:p.(Gly165Val)	NC_000010.10:g.89711876G>T	(Likely) pathogenic	1 lab	4d0f529b61
6:88321871 ORC3 C>T	6	88321871	88321871	C	T	ORC3	c.778C>T	NM_181837.2	NP_862820.1:p.(His260Tyr)	NC_000006.11:g.88321871C>T	VUS	1 lab	4d1204dd97
11:61724918 BEST1 C>A	11	61724918	61724918	C	A	BEST1	c.696C>A	NM_004183.3	NP_004174.1:p.(Ile232=)	NC_000011.9:g.61724918C>A	(Likely) benign	1 lab	4d120bbaa2
17:41219611 BRCA1 G>A	17	41219611	41219611	G	A	BRCA1	c.5074+14C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219611G>A	(Likely) benign	1 lab	4d1324bcd3
3:47889736 DHX30 C>T	3	47889736	47889736	C	T	DHX30	c.2353C>T	NM_138615.2	NP_619520.1:p.(Arg785Cys)	NC_000003.11:g.47889736C>T	(Likely) pathogenic	1 lab	4d1db7cc0b
2:166854673 SCN1A G>A	2	166854673	166854673	G	A	SCN1A	c.4351C>T	NM_001165963.2	NP_001159435.1:p.(Pro1451Ser)	NC_000002.11:g.166854673G>A	VUS	1 lab	4d2347327e
12:99145261 ANKS1B ATG>A	12	99145261	99145263	ATG	A	ANKS1B	c.3617_3618del	NM_001352186.2	NP_001339115.1:p.(Ala1206ValfsTer25)	NC_000012.11:g.99145262_99145263del	VUS	1 lab	4d29938882
15:67073550 SMAD6 G>T	15	67073550	67073550	G	T	SMAD6	c.1168G>T	NM_005585.4	NP_005576.3:p.(Gly390Cys)	NC_000015.9:g.67073550G>T	VUS	1 lab	4d29b6881a
22:51117195 MISSING A>G	22	51117195	51117195	A	G	MISSING				NC_000022.10:g.51117195A>G	(Likely) pathogenic	1 lab	4d2b428aab
X:32235146 DMD A>C	X	32235146	32235146	A	C	DMD	c.6325T>G	NM_004006.2	NP_003997.1:p.(Phe2109Val)	NC_000023.10:g.32235146A>C	VUS	1 lab	4d2d53579f
11:120983883 TECTA G>C	11	120983883	120983883	G	C	TECTA				NC_000011.9:g.120983883G>C	VUS	1 lab	4d30351f0f
X:53517492 MISSING G>Alt too long to show for this DUP	X	53517492	53762693	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.53517494_53762693dup	(Likely) pathogenic	1 lab	19a5d06802
5:180046055 FLT4 A>C	5	180046055	180046055	A	C	FLT4	c.2816T>G	NM_182925.4	NP_891555.2:p.(Leu939Arg)	NC_000005.9:g.180046055A>C	(Likely) pathogenic	1 lab	4d316cd861
17:41215969 BRCA1 C>A	17	41215969	41215969	C	A	BRCA1	c.5075-1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215969C>A	(Likely) pathogenic	1 lab	4d323ae093
3:46016770 FYCO1 T>C	3	46016770	46016770	T	C	FYCO1	c.356A>G	NM_024513.3	NP_078789.2:p.(Asp119Gly)	NC_000003.11:g.46016770T>C	VUS	1 lab	4d33661d8d
8:41522546 ANK1 G>A	8	41522546	41522546	G	A	ANK1	c.5395-1286C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41522546G>A	(Likely) benign	1 lab	07859467d9
2:179473496 TTN G>A	2	179473496	179473496	G	A	TTN	c.52242C>T	NM_001267550.2	NP_001254479.2:p.(Pro17414=)	NC_000002.11:g.179473496G>A	(Likely) benign	1 lab	4d34e6d74f
2:228145303 COL4A3 C>T	2	228145303	228145303	C	T	COL4A3	c.2371C>T	NM_000091.4	NP_000082.2:p.(Arg791Ter)	NC_000002.11:g.228145303C>T	(Likely) pathogenic	1 lab	4d3804c0df
17:26694483 VTN A>G	17	26694483	26694483	A	G	VTN	c.1344T>C	NM_000638.3	NP_000629.3:p.(Asn448=)	NC_000017.10:g.26694483A>G	(Likely) benign	1 lab	4d3bbe7bd6
2:167304135 SCN7A G>A	2	167304135	167304135	G	A	SCN7A	c.1374C>T	NM_002976.4	NP_002967.2:p.(Leu458=)	NC_000002.11:g.167304135G>A	(Likely) benign	1 lab	4d3e5a2347
X:11316722 AMELX C>T	X	11316722	11316722	C	T	AMELX	c.199C>T	NM_001142.2	NP_001133.1:p.(Pro67Ser)	NC_000023.10:g.11316722C>T	VUS	1 lab	4d3fab4fe6
17:8141449 CTC1 C>A	17	8141449	8141449	C	A	CTC1	c.547G>T	NM_025099.6	NP_079375.3:p.(Asp183Tyr)	NC_000017.10:g.8141449C>A	(Likely) benign	1 lab	0786f6affd
5:112173450 APC TG>T	5	112173450	112173453	TG	T	APC	c.2162del	NM_000038.6	NP_000029.2:p.(Gly721GlufsTer6)	NC_000005.9:g.112173453del	(Likely) pathogenic	1 lab	4d4112d15c
6:43008298 CUL7 C>T	6	43008298	43008298	C	T	CUL7	c.3993G>A	NM_014780.4	NP_055595.2:p.(Leu1331=)	NC_000006.11:g.43008298C>T	(Likely) benign	1 lab	4d41c7b818
2:179616634 TTN C>G	2	179616634	179616634	C	G	TTN	c.11311+1217G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616634C>G	VUS	1 lab	4d46927253
9:27203077 TEK A>C	9	27203077	27203077	A	C	TEK	c.2169A>C	NM_000459.5	NP_000450.3:p.(Pro723=)	NC_000009.11:g.27203077A>C	(Likely) benign	1 lab	19a679528c
14:77492443 IRF2BPL G>A	14	77492443	77492443	G	A	IRF2BPL	c.1693C>T	NM_024496.4	NP_078772.1:p.(Gln565Ter)	NC_000014.8:g.77492443G>A	(Likely) pathogenic	1 lab	4d47556cbc
15:31334343 TRPM1 G>T	15	31334343	31334343	G	T	TRPM1	c.1832C>A	NM_002420.5	NP_002411.3:p.(Pro611His)	NC_000015.9:g.31334343G>T	VUS	1 lab	4d51507dc9
1:983155 AGRN G>A	1	983155	983155	G	A	AGRN	c.3632-1G>A	NM_198576.3	NP_940978.2:p.?	NC_000001.10:g.983155G>A	(Likely) pathogenic	1 lab	4d518d4fe8
10:73569749 CDH23 C>T	10	73569749	73569749	C	T	CDH23	c.8895C>T	NM_022124.5	NP_071407.4:p.(Pro2965=)	NC_000010.10:g.73569749C>T	(Likely) benign	1 lab	4d531857ed
15:78401700 CIB2 C>T	15	78401700	78401700	C	T	CIB2	c.223G>A	NM_006383.3	NP_006374.1:p.(Val75Met)	NC_000015.9:g.78401700C>T	VUS	1 lab	4d589e1f20
10:102783245 PDZD7 G>A	10	102783245	102783245	G	A	PDZD7	c.490C>T	NM_001195263.1	NP_001182192.1:p.(Arg164Trp)	NC_000010.10:g.102783245G>A	VUS	1 lab	4d606bfa98
3:130716598 ATP2C1 G>T	3	130716598	130716598	G	T	ATP2C1	c.2391+1G>T	NM_014382.3	NP_055197.2:p.?	NC_000003.11:g.130716598G>T	(Likely) pathogenic	1 lab	4d620f28c2
3:38592636 SCN5A C>T	3	38592636	38592636	C	T	SCN5A	c.5227G>A	NM_198056.2	NP_932173.1:p.(Gly1743Arg)	NC_000003.11:g.38592636C>T	(Likely) pathogenic	1 lab	4d62ceacfb
8:126094728 WASHC5 T>C	8	126094728	126094728	T	C	WASHC5	c.333-19A>G	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126094728T>C	(Likely) benign	1 lab	4d64b9ef76
18:19353682 MIB1 AG>A	18	19353682	19353685	AG	A	MIB1	c.632del	NM_020774.3	NP_065825.1:p.(Gly211AlafsTer5)	NC_000018.9:g.19353685del	(Likely) pathogenic	1 lab	4d6b2599b5
17:54933928 DGKE A>G	17	54933928	54933928	A	G	DGKE	c.1154A>G	NM_003647.3	NP_003638.1:p.(Asn385Ser)	NC_000017.10:g.54933928A>G	VUS	1 lab	4d6ff25ae4
7:73482996 ELN G>C	7	73482996	73482996	G	C	ELN				NC_000007.13:g.73482996G>C	VUS	1 lab	4d7bea9d3a
19:55669073 TNNI3 G>A	19	55669073	55669073	G	A	TNNI3	c.-116C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55669073G>A	(Likely) benign	1 lab	4d7c66fa78
12:6091087 VWF C>A	12	6091087	6091087	C	A	VWF	c.7152G>T	NM_000552.3	NP_000543.2:p.(Arg2384=)	NC_000012.11:g.6091087C>A	(Likely) benign	1 lab	4d8179b624
5:112163616 APC T>G	5	112163616	112163616	T	G	APC	c.1549-10T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112163616T>G	VUS	1 lab	4d825ba9dd
17:7984479 ALOX12B G>A	17	7984479	7984479	G	A	ALOX12B	c.379C>T	NM_001139.2	NP_001130.1:p.(Pro127Ser)	NC_000017.10:g.7984479G>A	(Likely) benign	1 lab	4d829bd990
10:75849097 VCL A>G	10	75849097	75849097	A	G	VCL	c.1166A>G	NM_014000.2	NP_054706.1:p.(Asp389Gly)	NC_000010.10:g.75849097A>G	VUS	1 lab	4d877294a0
12:111085037 TCTN1 G>A	12	111085037	111085037	G	A	TCTN1	c.1531G>A	NM_001082538.2	NP_001076007.1:p.(Ala511Thr)	NC_000012.11:g.111085037G>A	VUS	1 lab	4d8816301d
11:121016838 TECTA C>T	11	121016838	121016838	C	T	TECTA	c.4105+13C>T	NM_005422.4	NP_005413.2:p.?	NC_000011.9:g.121016838C>T	(Likely) benign	1 lab	4d8834d3ce
12:114832754 TBX5 A>G	12	114832754	114832754	A	G	TBX5	c.511-56T>C	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114832754A>G	(Likely) benign	1 lab	4d8c9e3e33
6:35471401 TULP1 G>T	6	35471401	35471401	G	T	TULP1	c.1258C>A	NM_003322.6	NP_003313.3:p.(Arg420Ser)	NC_000006.11:g.35471401G>T	(Likely) pathogenic	1 lab	4d8db47d8c
X:107930717 COL4A5 CGT>C	X	107930717	107930720	CGT	C	COL4A5	c.4323_4324del	NM_033380.2	NP_203699.1:p.(Gly1442PhefsTer49)	NC_000023.10:g.107930719_107930720del	(Likely) pathogenic	1 lab	4d906931f2
6:7583497 DSP T>A	6	7583497	7583497	T	A	DSP	c.6002T>A	NM_004415.4	NP_004406.2:p.(Val2001Glu)	NC_000006.11:g.7583497T>A	VUS	1 lab	19a9375ec7
2:167328871 SCN7A G>A	2	167328871	167328871	G	A	SCN7A	c.528C>T	NM_002976.4	NP_002967.2:p.(Leu176=)	NC_000002.11:g.167328871G>A	(Likely) benign	1 lab	4d91180186
2:228159665 COL4A3 T>G	2	228159665	228159665	T	G	COL4A3	c.3419-15T>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159665T>G	(Likely) benign	1 lab	4d939b240b
3:182810298 MCCC1 C>T	3	182810298	182810298	C	T	MCCC1	c.172G>A	NM_020166.4	NP_064551.3:p.(Gly58Arg)	NC_000003.11:g.182810298C>T	VUS	1 lab	4d94f3b077
9:136319539 ADAMTS13 G>A	9	136319539	136319539	G	A	ADAMTS13	c.3047G>A	NM_139025.4	NP_620594.1:p.(Trp1016Ter)	NC_000009.11:g.136319539G>A	(Likely) pathogenic	1 lab	4d960af6aa
10:16877083 CUBN T>G	10	16877083	16877083	T	G	CUBN	c.10292A>C	NM_001081.3	NP_001072.2:p.(His3431Pro)	NC_000010.10:g.16877083T>G	(Likely) pathogenic	1 lab	4d967c5238
7:6042277 PMS2 A>G	7	6042277	6042277	A	G	PMS2	c.354-10T>C	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6042277A>G	(Likely) benign	1 lab	4d98b5091e
2:220285298 DES G>A	2	220285298	220285298	G	A	DES	c.817G>A	NM_001927.4	NP_001918.3:p.(Ala273Thr)	NC_000002.11:g.220285298G>A	VUS	1 lab	4d9d97cf4c
3:121973145 CASR C>T	3	121973145	121973145	C	T	CASR	c.109C>T	NM_000388.3	NP_000379.2:p.(Leu37Phe)	NC_000003.11:g.121973145C>T	VUS	1 lab	4d9e62a13b
8:100133549 VPS13B A>G	8	100133549	100133549	A	G	VPS13B	c.1082A>G	NM_017890.4	NP_060360.3:p.(Asp361Gly)	NC_000008.10:g.100133549A>G	(Likely) benign	1 lab	0788853b69
7:150644044 KCNH2 G>A	7	150644044	150644044	G	A	KCNH2	c.3251C>T	NM_000238.4	NP_000229.1:p.(Pro1084Leu)	NC_000007.13:g.150644044G>A	(Likely) benign	1 lab	4da6c23274
13:32972391 BRCA2 G>A	13	32972391	32972391	G	A	BRCA2	c.9741G>A	NM_000059.3	NP_000050.2:p.(Gln3247=)	NC_000013.10:g.32972391G>A	(Likely) benign	1 lab	4da7e80dcd
19:1391158 NDUFS7 T>C	19	1391158	1391158	T	C	NDUFS7	c.449T>C	NM_024407.4	NP_077718.3:p.(Met150Thr)	NC_000019.9:g.1391158T>C	(Likely) pathogenic	1 lab	4db0492698
3:37083758 MLH1 G>T	3	37083758	37083758	G	T	MLH1	c.1668-1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37083758G>T	(Likely) pathogenic	1 lab	4db1a12043
2:44059013 ABCG5 G>C	2	44059013	44059013	G	C	ABCG5	c.403-7C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059013G>C	VUS	1 lab	19c066917d
1:78401495 NEXN A>AT	1	78401495	78401503	A	AT	NEXN	c.1252-5dup	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78401503dup	(Likely) benign	1 lab	4db2d11a30
6:33131495 COL11A2 C>T	6	33131495	33131495	C	T	COL11A2				NC_000006.11:g.33131495C>T	VUS	1 lab	4db63be1c1
3:49161363 LAMB2 G>A	3	49161363	49161363	G	A	LAMB2	c.3595C>T	NM_002292.4	NP_002283.3:p.(Arg1199Ter)	NC_000003.11:g.49161363G>A	(Likely) pathogenic	1 lab	4db8b5cf31
3:184074983 CLCN2 AG>A	3	184074983	184074985	AG	A	CLCN2	c.969del	NM_004366.5	NP_004357.3:p.(Phe324LeufsTer18)	NC_000003.11:g.184074985del	(Likely) pathogenic	1 lab	4db959eae7
12:111348754 MYL2 G>A	12	111348754	111348754	G	A	MYL2	c.*127C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348754G>A	(Likely) benign	1 lab	4dbb7877a6
1:1471061 ATAD3A A>T	1	1471061	1471061	A	T	ATAD3A				NC_000001.10:g.1471061A>T	VUS	1 lab	4dbc83622b
20:42744707 JPH2 C>T	20	42744707	42744707	C	T	JPH2	c.1608G>A	NM_020433.4	NP_065166.2:p.(Ala536=)	NC_000020.10:g.42744707C>T	(Likely) benign	1 lab	4dbd15ea78
11:47364434 MYBPC3 C>A	11	47364434	47364434	C	A	MYBPC3	c.1404G>T	NM_000256.3	NP_000247.2:p.(Gly468=)	NC_000011.9:g.47364434C>A	(Likely) benign	1 lab	4dc16eea53
16:16263577 ABCC6 T>C	16	16263577	16263577	T	C	ABCC6	c.2921A>G	NM_001171.6	NP_001162.5:p.(Asp974Gly)	NC_000016.9:g.16263577T>C	VUS	1 lab	4dc1c1a7c4
1:237991669 RYR2 AT>A	1	237991669	237991672	AT	A	RYR2	c.14591-9del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237991672del	(Likely) benign	1 lab	4dc2500fc4
1:215914883 USH2A GA>G	1	215914883	215914895	GA	G	USH2A	c.11549-5del	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215914895del	(Likely) benign	1 lab	4dc537fb5d
12:13720098 GRIN2B C>T	12	13720098	13720098	C	T	GRIN2B	c.2459G>A	NM_000834.3	NP_000825.2:p.(Gly820Glu)	NC_000012.11:g.13720098C>T	(Likely) pathogenic	1 lab	4dc6f24b1f
7:155595883 SHH A>T	7	155595883	155595883	A	T	SHH				NC_000007.13:g.155595883A>T	(Likely) benign	1 lab	4dc78c8d5e
1:237753190 RYR2 A>G	1	237753190	237753190	A	G	RYR2	c.3696A>G	NM_001035.2	NP_001026.2:p.(Leu1232=)	NC_000001.10:g.237753190A>G	(Likely) benign	1 lab	4dca1c9a58
2:228148981 COL4A3 G>A	2	228148981	228148981	G	A	COL4A3	c.2801G>A	NM_000091.4	NP_000082.2:p.(Gly934Glu)	NC_000002.11:g.228148981G>A	VUS	1 lab	4dcc89d740
1:216595193 USH2A C>T	1	216595193	216595193	C	T	USH2A	c.485+1G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216595193C>T	(Likely) pathogenic	1 lab	4dd11b13bc
22:29130552 CHEK2 G>C	22	29130552	29130552	G	C	CHEK2	c.158C>G	NM_007194.4	NP_009125.1:p.(Ser53Cys)	NC_000022.10:g.29130552G>C	VUS	1 lab	4dd5eecbf9
1:197398658 CRB1 G>T	1	197398658	197398658	G	T	CRB1	c.2756G>T	NM_201253.2	NP_957705.1:p.(Gly919Val)	NC_000001.10:g.197398658G>T	VUS	1 lab	4dd97f8935
6:129828772 LAMA2 G>A	6	129828772	129828772	G	A	LAMA2	c.8842G>A	NM_000426.3	NP_000417.2:p.(Gly2948Ser)	NC_000006.11:g.129828772G>A	VUS	1 lab	4dda6556f0
6:50811059 TFAP2B GC>G	6	50811059	50811062	GC	G	TFAP2B	c.1340del	NM_003221.3	NP_003212.2:p.(Pro447GlnfsTer26)	NC_000006.11:g.50811062del	(Likely) pathogenic	1 lab	4ddc52c674
16:57998447 CNGB1 G>C	16	57998447	57998447	G	C	CNGB1	c.161C>G	NM_001297.4	NP_001288.3:p.(Pro54Arg)	NC_000016.9:g.57998447G>C	VUS	1 lab	4ddc7853a5
14:23858936 MYH6 AA>GC	14	23858936	23858937	AA	GC	MYH6	c.3733-9_3733-8delinsGC	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858936_23858937delinsGC	(Likely) benign	1 lab	4ddd0fed2e
5:112177657 APC A>T	5	112177657	112177657	A	T	APC	c.6366A>T	NM_000038.5	NP_000029.2:p.(Ala2122=)	NC_000005.9:g.112177657A>T	(Likely) benign	1 lab	4ddf780340
12:57638105 STAC3 C>G	12	57638105	57638105	C	G	STAC3	c.851G>C	NM_145064.1	NP_659501.1:p.(Trp284Ser)	NC_000012.11:g.57638105C>G	VUS	1 lab	4ddff079d1
16:2110717 TSC2 C>G	16	2110717	2110717	C	G	TSC2	c.1022C>G	NM_000548.5	NP_000539.2:p.(Ser341Cys)	NC_000016.9:g.2110717C>G	(Likely) benign	1 lab	4de1da7bc1
8:143996450 CYP11B2 C>T	8	143996450	143996450	C	T	CYP11B2	c.595+12G>A	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143996450C>T	(Likely) benign	1 lab	4de2855abd
2:47698174 MSH2 G>GT	2	47698174	47698176	G	GT	MSH2	c.1734dup	NM_000251.2	NP_000242.1:p.(Lys579Ter)	NC_000002.11:g.47698176dup	(Likely) pathogenic	1 lab	4de3e34c5d
3:48608724 COL7A1 A>G	3	48608724	48608724	A	G	COL7A1	c.7069-13T>C	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48608724A>G	(Likely) benign	1 lab	4debdbc3ea
3:37038182 MLH1 C>A	3	37038182	37038182	C	A	MLH1	c.189C>A	NM_000249.3	NP_000240.1:p.(Asp63Glu)	NC_000003.11:g.37038182C>A	(Likely) pathogenic	1 lab	4debffdc1b
X:100652992 GLA A>AT	X	100652992	100652993	A	AT	GLA	c.1094dup	NM_000169.3	NP_000160.1:p.(Tyr365Ter)	NC_000023.10:g.100652993dup	(Likely) pathogenic	1 lab	4decb2e2a2
14:64467312 SYNE2 A>G	14	64467312	64467312	A	G	SYNE2	c.3513A>G	NM_182914.2	NP_878918.2:p.(Lys1171=)	NC_000014.8:g.64467312A>G	(Likely) benign	1 lab	4df013dcc2
X:17739559 NHS A>G	X	17739559	17739559	A	G	NHS	c.853-2A>G	NM_198270.3	NP_938011.1:p.?	NC_000023.10:g.17739559A>G	(Likely) pathogenic	1 lab	4df1b03ba3
16:30980962 SETD1A C>T	16	30980962	30980962	C	T	SETD1A	c.2968C>T	NM_014712.2	NP_055527.1:p.(Arg990Ter)	NC_000016.9:g.30980962C>T	(Likely) pathogenic	1 lab	4df44de8c9
10:89693009 PTEN G>T	10	89693009	89693009	G	T	PTEN	c.492+1G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89693009G>T	(Likely) pathogenic	1 lab	4df72349cf
13:32907006 BRCA2 T>C	13	32907006	32907006	T	C	BRCA2	c.1391T>C	NM_000059.3	NP_000050.2:p.(Val464Ala)	NC_000013.10:g.32907006T>C	(Likely) benign	1 lab	4dfb336d44
22:51063470 ARSA G>A	22	51063470	51063470	G	A	ARSA	c.*103C>T	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063470G>A	VUS	1 lab	078bdafd56
2:39250259 SOS1 A>G	2	39250259	39250259	A	G	SOS1	c.1310T>C	NM_005633.3	NP_005624.2:p.(Ile437Thr)	NC_000002.11:g.39250259A>G	(Likely) pathogenic	1 lab	4e0228138b
1:17345455 SDHB T>C	1	17345455	17345455	T	C	SDHB	c.766-2A>G	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17345455T>C	(Likely) pathogenic	1 lab	4e07770c3c
2:167060516 SCN9A T>C	2	167060516	167060516	T	C	SCN9A	c.4723A>G	NM_001365536.1	NP_001352465.1:p.(Thr1575Ala)	NC_000002.11:g.167060516T>C	VUS	1 lab	4e08abd0ea
14:23883031 MYH7 C>T	14	23883031	23883031	C	T	MYH7	c.5727G>A	NM_000257.3	NP_000248.2:p.(Arg1909=)	NC_000014.8:g.23883031C>T	(Likely) benign	1 lab	4e09fb5505
19:50912761 POLD1 C>T	19	50912761	50912761	C	T	POLD1	c.2007-15C>T	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50912761C>T	VUS	1 lab	0c5e772e2d
17:41249356 BRCA1 A>G	17	41249356	41249356	A	G	BRCA1	c.548-50T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249356A>G	(Likely) benign	1 lab	4e0a35a378
6:76558213 MYO6 G>A	6	76558213	76558213	G	A	MYO6	c.1043G>A	NM_004999.4	NP_004990.3:p.(Gly348Glu)	NC_000006.11:g.76558213G>A	VUS	1 lab	4e0e9af129
8:31005011 WRN G>A	8	31005011	31005011	G	A	WRN	c.3572+19G>A	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.31005011G>A	(Likely) pathogenic	1 lab	4e17017f77
20:57244396 STX16 G>A	20	57244396	57244396	G	A	STX16	c.443G>A	NM_001001433.2	NP_001001433.1:p.(Arg148Gln)	NC_000020.10:g.57244396G>A	(Likely) benign	1 lab	078db9ae6f
1:150049843 VPS45 C>T	1	150049843	150049843	C	T	VPS45	c.673C>T	NM_007259.4	NP_009190.2:p.(Pro225Ser)	NC_000001.10:g.150049843C>T	(Likely) benign	1 lab	078f496974
16:89349388 ANKRD11 G>A	16	89349388	89349388	G	A	ANKRD11	c.3562C>T	NM_013275.5	NP_037407.4:p.(Arg1188Ter)	NC_000016.9:g.89349388G>A	(Likely) pathogenic	1 lab	4e1ed2e8bc
17:7983992 ALOX12B CGAA>C	17	7983992	7983999	CGAA	C	ALOX12B	c.631_633del	NM_001139.2	NP_001130.1:p.(Phe211del)	NC_000017.10:g.7983997_7983999del	(Likely) pathogenic	1 lab	4e21cfe4d1
7:117235031 CFTR G>A	7	117235031	117235031	G	A	CFTR	c.2538G>A	NM_000492.3	NP_000483.3:p.(Trp846Ter)	NC_000007.13:g.117235031G>A	(Likely) pathogenic	1 lab	4e27624a79
8:100026253 VPS13B A>G	8	100026253	100026253	A	G	VPS13B	c.147+90A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100026253A>G	(Likely) benign	1 lab	0795b55e6d
10:121429543 BAG3 C>T	10	121429543	121429543	C	T	BAG3	c.361C>T	NM_004281.4	NP_004272.2:p.(Arg121Ter)	NC_000010.10:g.121429543C>T	(Likely) pathogenic	1 lab	4e29567a03
4:6304034 WFS1 C>T	4	6304034	6304034	C	T	WFS1	c.2512C>T	NM_006005.3	NP_005996.2:p.(Pro838Ser)	NC_000004.11:g.6304034C>T	(Likely) pathogenic	1 lab	4e2e93b905
5:218356 SDHA T>C	5	218356	218356	T	C	SDHA	c.-115T>C	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.218356T>C	(Likely) benign	1 lab	4e33a90824
1:201335986 TNNT2 C>T	1	201335986	201335986	C	T	TNNT2	c.183G>A	NM_001001430.2	NP_001001430.1:p.(Glu61=)	NC_000001.10:g.201335986C>T	(Likely) benign	1 lab	4e353d524d
7:100225217 TFR2 C>T	7	100225217	100225217	C	T	TFR2	c.1750G>A	NM_003227.4	NP_003218.2:p.(Glu584Lys)	NC_000007.13:g.100225217C>T	VUS	1 lab	4e359559f8
X:48341183 FTSJ1 G>A	X	48341183	48341183	G	A	FTSJ1				NC_000023.10:g.48341183G>A	(Likely) pathogenic	1 lab	4e398efae1
17:41251795 BRCA1 A>G	17	41251795	41251795	A	G	BRCA1	c.544T>C	NM_007294.4	NP_009225.1:p.(Leu182=)	NC_000017.10:g.41251795A>G	(Likely) benign	1 lab	4e3aeb1c8c
15:72338657 MYO9A A>G	15	72338657	72338657	A	G	MYO9A	c.248T>C	NM_006901.4	NP_008832.2:p.(Val83Ala)	NC_000015.9:g.72338657A>G	VUS	1 lab	4e3f445d2f
2:179595235 TTN T>G	2	179595235	179595235	T	G	TTN	c.18025A>C	NM_001267550.2	NP_001254479.2:p.(Lys6009Gln)	NC_000002.11:g.179595235T>G	VUS	1 lab	4e454bdb96
7:87060799 ABCB4 T>A	7	87060799	87060799	T	A	ABCB4	c.1814A>T	NM_000443.4	NP_000434.1:p.(Asp605Val)	NC_000007.13:g.87060799T>A	VUS	1 lab	4e46e167bf
12:110238434 TRPV4 T>G	12	110238434	110238434	T	G	TRPV4	c.842A>C	NM_021625.5	NP_067638.3:p.(Tyr281Ser)	NC_000012.11:g.110238434T>G	(Likely) pathogenic	1 lab	4e47f7ad51
2:182521482 CERKL GGCCGGGCACTCACCC>G	2	182521482	182521504	GGCCGGGCACTCACCC	G	CERKL	c.237_238+13del	NM_001030311.2	NP_001025482.1:p.?	NC_000002.11:g.182521490_182521504del	(Likely) pathogenic	1 lab	4e4a742d22
2:179553809 TTN G>A	2	179553809	179553809	G	A	TTN	c.32066C>T	NM_001267550.2	NP_001254479.2:p.(Pro10689Leu)	NC_000002.11:g.179553809G>A	(Likely) benign	1 lab	4e4a87ab06
2:179477041 TTN G>A	2	179477041	179477041	G	A	TTN	c.50211C>T	NM_001267550.2	NP_001254479.2:p.(Thr16737=)	NC_000002.11:g.179477041G>A	(Likely) benign	1 lab	4e4bf38ab2
15:23812254 MKRN3 G>A	15	23812254	23812254	G	A	MKRN3	c.1325G>A	NM_005664.3	NP_005655.1:p.(Trp442Ter)	NC_000015.9:g.23812254G>A	(Likely) pathogenic	1 lab	4e4d4df493
2:215901774 ABCA12 C>T	2	215901774	215901774	C	T	ABCA12	c.888G>A	NM_173076.2	NP_775099.2:p.(Val296=)	NC_000002.11:g.215901774C>T	(Likely) benign	1 lab	4e515e82c5
7:140434542 BRAF C>T	7	140434542	140434542	C	T	BRAF	c.2156G>A	NM_004333.4	NP_004324.2:p.(Arg719His)	NC_000007.13:g.140434542C>T	VUS	1 lab	4e51805afb
1:68910541 RPE65 G>A	1	68910541	68910541	G	A	RPE65				NC_000001.10:g.68910541G>A	(Likely) pathogenic	1 lab	4e5600a2bf
17:80765517 TBCD C>T	17	80765517	80765517	C	T	TBCD	c.1121C>T	NM_005993.4	NP_005984.3:p.(Thr374Met)	NC_000017.10:g.80765517C>T	VUS	1 lab	4e5843c340
11:61727022 BEST1 C>A	11	61727022	61727022	C	A	BEST1				NC_000011.9:g.61727022C>A	(Likely) pathogenic	1 lab	4e5c975b2d
6:118014204 NUS1 G>A	6	118014204	118014204	G	A	NUS1	c.416-1G>A	NM_138459.4	NP_612468.1:p.?	NC_000006.11:g.118014204G>A	(Likely) pathogenic	1 lab	4e5cda0c0f
12:14019123 GRIN2B C>T	12	14019123	14019123	C	T	GRIN2B				NC_000012.11:g.14019123C>T	(Likely) benign	1 lab	4e5eee7324
16:21689926 OTOA G>A	16	21689926	21689926	G	A	OTOA	c.91G>A	NM_144672.3	NP_653273.3:p.(Asp31Asn)	NC_000016.9:g.21689926G>A	VUS	1 lab	4e5f84fe8f
17:41219756 BRCA1 C>T	17	41219756	41219756	C	T	BRCA1	c.4987-44G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219756C>T	(Likely) benign	1 lab	4e60cb29b8
5:112154967 APC T>TA	5	112154967	112154968	T	TA	APC	c.1239dup	NM_000038.6	NP_000029.2:p.(Arg414ThrfsTer5)	NC_000005.9:g.112154968dup	(Likely) pathogenic	1 lab	4e6455911a
1:211093321 KCNH1 C>T	1	211093321	211093321	C	T	KCNH1	c.1123G>A	NM_172362.3	NP_758872.1:p.(Gly375Arg)	NC_000001.10:g.211093321C>T	(Likely) pathogenic	1 lab	4e6584c6c9
2:47702418 MSH2 C>T	2	47702418	47702418	C	T	MSH2	c.2005+9C>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702418C>T	(Likely) benign	1 lab	4e6e78f627
10:8100583 GATA3 AC>A	10	8100583	8100585	AC	A	GATA3	c.559del	NM_001002295.2	NP_001002295.1:p.(Gln187ArgfsTer8)	NC_000010.10:g.8100585del	(Likely) pathogenic	1 lab	4e6fb3b5ac
7:99701718 AP4M1 C>T	7	99701718	99701718	C	T	AP4M1	c.547C>T	NM_004722.3	NP_004713.2:p.(Gln183Ter)	NC_000007.13:g.99701718C>T	(Likely) pathogenic	1 lab	4e6fdba747
16:23200923 SCNN1G C>T	16	23200923	23200923	C	T	SCNN1G	c.549C>T	NM_001039.3	NP_001030.2:p.(Gly183=)	NC_000016.9:g.23200923C>T	(Likely) benign	1 lab	4e7136eff8
17:41244030 BRCA1 C>A	17	41244030	41244030	C	A	BRCA1	c.3518G>T	NM_007294.3	NP_009225.1:p.(Ser1173Ile)	NC_000017.10:g.41244030C>A	(Likely) benign	1 lab	4e7b7b7e46
1:152280170 FLG C>G	1	152280170	152280170	C	G	FLG	c.7192G>C	NM_002016.1	NP_002007.1:p.(Glu2398Gln)	NC_000001.10:g.152280170C>G	(Likely) benign	1 lab	4e7dac427b
X:70328485 IL2RG A>ATTGAT	X	70328485	70328487	A	ATTGAT	IL2RG	c.817_818insATCAA	NM_000206.2	NP_000197.1:p.(Ile273AsnfsTer23)	NC_000023.10:g.70328486_70328487insTGATT	(Likely) pathogenic	1 lab	4e81f2804b
10:73559261 CDH23 G>A	10	73559261	73559261	G	A	CDH23	c.7237G>A	NM_022124.5	NP_071407.4:p.(Glu2413Lys)	NC_000010.10:g.73559261G>A	VUS	1 lab	4e842c7268
5:98229159 CHD1 T>C	5	98229159	98229159	T	C	CHD1	c.1952A>G	NM_001270.2	NP_001261.2:p.(Lys651Arg)	NC_000005.9:g.98229159T>C	VUS	1 lab	4e868d320d
7:5568230 ACTB T>C	7	5568230	5568230	T	C	ACTB	c.484A>G	NM_001101.4	NP_001092.1:p.(Thr162Ala)	NC_000007.13:g.5568230T>C	(Likely) pathogenic	1 lab	4e883ee102
16:1570005 IFT140 G>GC	16	1570005	1570009	G	GC	IFT140	c.3916dup	NM_014714.3	NP_055529.2:p.(Ala1306GlyfsTer56)	NC_000016.9:g.1570009dup	(Likely) pathogenic	1 lab	4e897c25de
7:6042242 PMS2 C>T	7	6042242	6042242	C	T	PMS2	c.379G>A	NM_000535.6	NP_000526.2:p.(Ala127Thr)	NC_000007.13:g.6042242C>T	(Likely) benign	1 lab	4e91e85357
1:201341169 TNNT2 T>A	1	201341169	201341169	T	A	TNNT2	c.53A>T	NM_001001430.3	NP_001001430.1:p.(Glu18Val)	NC_000001.10:g.201341169T>A	VUS	1 lab	4e94be1ca0
7:143036397 CLCN1 A>G	7	143036397	143036397	A	G	CLCN1	c.1453A>G	NM_000083.3	NP_000074.3:p.(Met485Val)	NC_000007.13:g.143036397A>G	(Likely) pathogenic	1 lab	4e98cf62da
17:41251894 BRCA1 C>A	17	41251894	41251894	C	A	BRCA1	c.445G>T	NM_007294.3	NP_009225.1:p.(Glu149Ter)	NC_000017.10:g.41251894C>A	(Likely) pathogenic	1 lab	4e994558f8
11:128781978 KCNJ5 T>C	11	128781978	128781978	T	C	KCNJ5	c.810T>C	NM_000890.3	NP_000881.3:p.(Leu270=)	NC_000011.9:g.128781978T>C	(Likely) benign	1 lab	4e9cde4b40
10:73558952 CDH23 C>T	10	73558952	73558952	C	T	CDH23	c.7139C>T	NM_022124.5	NP_071407.4:p.(Pro2380Leu)	NC_000010.10:g.73558952C>T	(Likely) benign	1 lab	4e9f22713f
17:10541233 MYH3 C>T	17	10541233	10541233	C	T	MYH3	c.3749G>A	NM_002470.4	NP_002461.2:p.(Cys1250Tyr)	NC_000017.10:g.10541233C>T	(Likely) benign	1 lab	4ea29823cf
2:32340855 SPAST A>T	2	32340855	32340855	A	T	SPAST				NC_000002.11:g.32340855A>T	(Likely) pathogenic	1 lab	4ea43eacfb
12:6439390 TNFRSF1A AT>A	12	6439390	6439391	AT	A	TNFRSF1A	c.768+42del	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6439391del	(Likely) benign	1 lab	0798647c90
X:51644675 MAGED1 G>A	X	51644675	51644675	G	A	MAGED1	c.2154G>A	NM_001005333.1	NP_001005333.1:p.(Trp718Ter)	NC_000023.10:g.51644675G>A	VUS	1 lab	4ea74385dd
11:65637693 EFEMP2 C>T	11	65637693	65637693	C	T	EFEMP2	c.506G>A	NM_016938.4	NP_058634.4:p.(Arg169His)	NC_000011.9:g.65637693C>T	VUS	1 lab	4ea7790f8d
5:89979882 ADGRV1 T>C	5	89979882	89979882	T	C	ADGRV1	c.6144T>C	NM_032119.4	NP_115495.3:p.(Leu2048=)	NC_000005.9:g.89979882T>C	(Likely) benign	1 lab	079945f1b5
20:33572647 MYH7B A>C	20	33572647	33572647	A	C	MYH7B	c.775-10A>C	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33572647A>C	(Likely) benign	1 lab	4eb61a70e2
9:127262607 NR5A1 T>C	9	127262607	127262607	T	C	NR5A1	c.632A>G	NM_004959.5	NP_004950.2:p.(Tyr211Cys)	NC_000009.11:g.127262607T>C	(Likely) pathogenic	1 lab	4eb76b0b2d
10:75758117 VCL T>G	10	75758117	75758117	T	G	VCL	c.152T>G	NM_014000.2	NP_054706.1:p.(Val51Gly)	NC_000010.10:g.75758117T>G	VUS	1 lab	4ebb6221ca
8:141566342 MISSING G>A	8	141566342	141566342	G	A	MISSING				NC_000008.10:g.141566342G>A	(Likely) benign	1 lab	4ebcb1fa05
4:15554917 CC2D2A C>T	4	15554917	15554917	C	T	CC2D2A	c.2475C>T	NM_001080522.2	NP_001073991.2:p.(Ile825=)	NC_000004.11:g.15554917C>T	(Likely) benign	1 lab	079a6cb450
2:179528780 TTN AC>A	2	179528780	179528782	AC	A	TTN	c.36325del	NM_001267550.2	NP_001254479.2:p.(Val12109TrpfsTer49)	NC_000002.11:g.179528782del	VUS	1 lab	4ec0d6e397
11:119103212 CBL A>G	11	119103212	119103212	A	G	CBL	c.250A>G	NM_005188.4	NP_005179.2:p.(Ile84Val)	NC_000011.9:g.119103212A>G	VUS	1 lab	4ec1f07e0d
12:52096584 SCN8A G>A	12	52096584	52096584	G	A	SCN8A	c.1020G>A	NM_014191.3	NP_055006.1:p.(Met340Ile)	NC_000012.11:g.52096584G>A	VUS	1 lab	4ec8ab568e
10:70516242 CCAR1 C>T	10	70516242	70516242	C	T	CCAR1	c.1836+2C>T	NM_018237.3	NP_060707.2:p.?	NC_000010.10:g.70516242C>T	VUS	1 lab	4ecbf3d0a4
12:52163654 SCN8A A>G	12	52163654	52163654	A	G	SCN8A	c.3375A>G	NM_014191.4	NP_055006.1:p.(Lys1125=)	NC_000012.11:g.52163654A>G	(Likely) benign	1 lab	4eccd6bb08
X:8555944 ANOS1 G>A	X	8555944	8555944	G	A	ANOS1	c.617C>T	NM_000216.4	NP_000207.2:p.(Ser206Leu)	NC_000023.10:g.8555944G>A	VUS	1 lab	4ecf07cc6f
11:108170474 ATM C>G	11	108170474	108170474	C	G	ATM	c.5039C>G	NM_000051.3	NP_000042.3:p.(Pro1680Arg)	NC_000011.9:g.108170474C>G	VUS	1 lab	4ecf52993c
17:76120637 TMC6 C>T	17	76120637	76120637	C	T	TMC6	c.859G>A	NM_001127198.2	NP_001120670.1:p.(Val287Ile)	NC_000017.10:g.76120637C>T	(Likely) benign	1 lab	4ed492b171
X:31525408 DMD G>A	X	31525408	31525408	G	A	DMD	c.8380C>T	NM_004006.2	NP_003997.1:p.(Leu2794Phe)	NC_000023.10:g.31525408G>A	VUS	1 lab	4ee05f730f
13:113772832 F7 C>T	13	113772832	113772832	C	T	F7	c.911C>T	NM_000131.4	NP_000122.1:p.(Ala304Val)	NC_000013.10:g.113772832C>T	(Likely) pathogenic	1 lab	4ee088ca79
11:8123177 TUB G>A	11	8123177	8123177	G	A	TUB	c.*11G>A	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8123177G>A	(Likely) benign	1 lab	1af7e7c9e2
1:228526742 OBSCN C>CCACA	1	228526742	228526777	C	CCACA	OBSCN	c.20129+47_20129+50dup	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228526774_228526777dup	(Likely) benign	1 lab	1f315b95b0
14:23885025 MYH7 A>G	14	23885025	23885025	A	G	MYH7	c.4970T>C	NM_000257.3	NP_000248.2:p.(Leu1657Pro)	NC_000014.8:g.23885025A>G	(Likely) pathogenic	1 lab	4f0c6a0b23
14:76957816 ESRRB C>G	14	76957816	76957816	C	G	ESRRB	c.814C>G	NM_004452.3	NP_004443.3:p.(Gln272Glu)	NC_000014.8:g.76957816C>G	VUS	1 lab	4eedc5d2c3
12:133215783 POLE G>A	12	133215783	133215783	G	A	POLE	c.5480C>T	NM_006231.4	NP_006222.2:p.(Ser1827Leu)	NC_000012.11:g.133215783G>A	VUS	1 lab	4eee3109c4
7:117149089 CFTR G>A	7	117149089	117149089	G	A	CFTR	c.166G>A	NM_000492.3	NP_000483.3:p.(Glu56Lys)	NC_000007.13:g.117149089G>A	VUS	1 lab	4eeef6662c
2:8910799 KIDINS220 C>A	2	8910799	8910799	C	A	KIDINS220				NC_000002.11:g.8910799C>A	VUS	1 lab	4ef5c84e6b
12:102813415 IGF1 C>T	12	102813415	102813415	C	T	IGF1	c.274G>A	NM_000618.5	NP_000609.1:p.(Val92Met)	NC_000012.11:g.102813415C>T	(Likely) pathogenic	1 lab	4efebb797f
1:93297672 RPL5 A>G	1	93297672	93297672	A	G	RPL5	c.1A>G	NM_000969.3	NP_000960.2:p.(Met1?)	NC_000001.10:g.93297672A>G	(Likely) pathogenic	1 lab	4f0082254a
X:153008485 ABCD1 G>A	X	153008485	153008485	G	A	ABCD1				NC_000023.10:g.153008485G>A	VUS	1 lab	4f01aa5d10
1:237868623 RYR2 A>G	1	237868623	237868623	A	G	RYR2	c.9560A>G	NM_001035.2	NP_001026.2:p.(Lys3187Arg)	NC_000001.10:g.237868623A>G	(Likely) benign	1 lab	4f04dad1ce
17:4836348 GP1BA A>G	17	4836348	4836348	A	G	GP1BA	c.449A>G	NM_000173.5	NP_000164.5:p.(Asn150Ser)	NC_000017.10:g.4836348A>G	(Likely) pathogenic	1 lab	4f07003235
2:170003402 LRP2 G>A	2	170003402	170003402	G	A	LRP2	c.12658C>T	NM_004525.2	NP_004516.2:p.(Arg4220Cys)	NC_000002.11:g.170003402G>A	VUS	1 lab	4f0dfcf2de
17:79477849 ACTG1 G>C	17	79477849	79477849	G	C	ACTG1	c.995C>G	NM_001614.5	NP_001605.1:p.(Pro332Arg)	NC_000017.10:g.79477849G>C	VUS	1 lab	4f10dfb4de
X:77268470 ATP7A T>G	X	77268470	77268470	T	G	ATP7A	c.2267T>G	NM_000052.6	NP_000043.4:p.(Ile756Ser)	NC_000023.10:g.77268470T>G	VUS	1 lab	4f1853bddc
9:35658062 CCDC107 G>T	9	35658062	35658062	G	T	CCDC107				NC_000009.11:g.35658062G>T	(Likely) benign	1 lab	4f1a77ec2f
18:73000503 TSHZ1 G>A	18	73000503	73000503	G	A	TSHZ1				NC_000018.9:g.73000503G>A	(Likely) benign	1 lab	4f1d75669d
11:47360248 MYBPC3 T>G	11	47360248	47360248	T	G	MYBPC3	c.2149-18A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360248T>G	(Likely) benign	1 lab	4f1f3d8f5a
16:3781899 CREBBP TG>T	16	3781899	3781900	TG	T	CREBBP	c.4767del	NM_004380.3	NP_004371.2:p.(Asn1589LysfsTer46)	NC_000016.9:g.3781900del	(Likely) pathogenic	1 lab	4f1fb1d817
12:6680165 CHD4 A>C	12	6680165	6680165	A	C	CHD4				NC_000012.11:g.6680165A>C	VUS	1 lab	4f201b2e81
16:56904148 SLC12A3 G>A	16	56904148	56904148	G	A	SLC12A3	c.741+1G>A	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56904148G>A	(Likely) pathogenic	1 lab	4f20b6b3ea
2:152476162 NEB G>C	2	152476162	152476162	G	C	NEB	c.9946C>G	NM_004543.4	NP_004534.2:p.(Arg3316Gly)	NC_000002.11:g.152476162G>C	(Likely) pathogenic	1 lab	4f2119d5f3
9:139401273 NOTCH1 CCT>C	9	139401273	139401276	CCT	C	NOTCH1	c.3794_3795del	NM_017617.5	NP_060087.3:p.(Glu1265GlyfsTer25)	NC_000009.11:g.139401275_139401276del	(Likely) pathogenic	1 lab	4f214949fa
17:62008683 CD79B G>A	17	62008683	62008683	G	A	CD79B	c.118+12C>T	NM_000626.4	NP_000617.1:p.?	NC_000017.10:g.62008683G>A	(Likely) benign	1 lab	07a563b951
11:108124682 ATM C>T	11	108124682	108124682	C	T	ATM	c.2040C>T	NM_000051.4	NP_000042.3:p.(Phe680=)	NC_000011.9:g.108124682C>T	(Likely) benign	1 lab	4f25a38af1
1:207925192 CD46 G>A	1	207925192	207925192	G	A	CD46				NC_000001.10:g.207925192G>A	(Likely) pathogenic	1 lab	4f2789aa4b
12:8998048 A2ML1 A>G	12	8998048	8998048	A	G	A2ML1	c.1487A>G	NM_144670.4	NP_653271.2:p.(Lys496Arg)	NC_000012.11:g.8998048A>G	(Likely) benign	1 lab	4f28aca04e
1:94526316 ABCA4 C>T	1	94526316	94526316	C	T	ABCA4	c.1938-1G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94526316C>T	(Likely) pathogenic	1 lab	4f2a07b4e1
10:8097810 GATA3 C>A	10	8097810	8097810	C	A	GATA3	c.192C>A	NM_001002295.1	NP_001002295.1:p.(Tyr64Ter)	NC_000010.10:g.8097810C>A	(Likely) pathogenic	1 lab	4f2a3868aa
9:136518097 DBH A>G	9	136518097	136518097	A	G	DBH	c.1410A>G	NM_000787.3	NP_000778.3:p.(Thr470=)	NC_000009.11:g.136518097A>G	(Likely) benign	1 lab	4f3cd7b75d
6:37611691 MDGA1 C>CCTCGATGT	6	37611691	37611706	C	CCTCGATGT	MDGA1				NC_000006.11:g.37611699_37611706dup	VUS	1 lab	4f3d063308
18:67866734 RTTN T>G	18	67866734	67866734	T	G	RTTN	c.494A>C	NM_173630.3	NP_775901.3:p.(Gln165Pro)	NC_000018.9:g.67866734T>G	(Likely) pathogenic	1 lab	4f3eb2f77e
5:176832198 F12 G>A	5	176832198	176832198	G	A	F12	c.398-12C>T	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176832198G>A	(Likely) benign	1 lab	4f4594558d
10:69909790 MYPN C>T	10	69909790	69909790	C	T	MYPN	c.1246-7C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69909790C>T	(Likely) benign	1 lab	4f4a109156
3:38966945 SCN11A G>A	3	38966945	38966945	G	A	SCN11A	c.673C>T	NM_014139.2	NP_054858.2:p.(Arg225Cys)	NC_000003.11:g.38966945G>A	(Likely) pathogenic	1 lab	4f4cb644d0
4:120192632 USP53 T>C	4	120192632	120192632	T	C	USP53	c.1617T>C	NM_019050.2	NP_061923.2:p.(Ile539=)	NC_000004.11:g.120192632T>C	(Likely) benign	1 lab	4f51bac9ab
8:41551720 ANK1 G>A	8	41551720	41551720	G	A	ANK1	c.3328-100C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41551720G>A	(Likely) benign	1 lab	07a7cfbf69
10:121411093 BAG3 G>A	10	121411093	121411093	G	A	BAG3	c.-95G>A	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121411093G>A	(Likely) benign	1 lab	4f5941d16b
15:48722948 FBN1 TC>T	15	48722948	48722950	TC	T	FBN1	c.6790del	NM_000138.5	NP_000129.3:p.(Glu2264AsnfsTer27)	NC_000015.9:g.48722950del	(Likely) pathogenic	1 lab	4f5ad0e4b0
17:18052914 MYO15A G>A	17	18052914	18052914	G	A	MYO15A	c.7212+20G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18052914G>A	(Likely) benign	1 lab	4f616fd291
7:6038813 PMS2 G>A	7	6038813	6038813	G	A	PMS2	c.631C>T	NM_000535.5	NP_000526.1:p.(Arg211Ter)	NC_000007.13:g.6038813G>A	(Likely) pathogenic	1 lab	4f6238984f
13:32953485 BRCA2 T>G	13	32953485	32953485	T	G	BRCA2	c.8786T>G	NM_000059.3	NP_000050.2:p.(Leu2929Trp)	NC_000013.10:g.32953485T>G	VUS	1 lab	4f62d93f99
2:32366974 SPAST C>CT	2	32366974	32366975	C	CT	SPAST	c.1495_1496insT	NM_014946.3	NP_055761.2:p.(Arg499LeufsTer13)	NC_000002.11:g.32366974_32366975insT	(Likely) pathogenic	1 lab	4f64b61bd4
17:33430285 RAD51D G>A	17	33430285	33430285	G	A	RAD51D	c.726C>T	NM_002878.3	NP_002869.3:p.(Gly242=)	NC_000017.10:g.33430285G>A	(Likely) benign	1 lab	4f65c2feda
22:24718251 SPECC1L A>G	22	24718251	24718251	A	G	SPECC1L				NC_000022.10:g.24718251A>G	(Likely) pathogenic	1 lab	4f67b2494f
19:36330303 NPHS1 G>GT	19	36330303	36330304	G	GT	NPHS1	c.2944dup	NM_004646.3	NP_004637.1:p.(Thr982AsnfsTer36)	NC_000019.9:g.36330304dup	(Likely) pathogenic	1 lab	4f69bf704b
20:10626041 JAG1 G>C	20	10626041	10626041	G	C	JAG1	c.2076C>G	NM_000214.2	NP_000205.1:p.(Asp692Glu)	NC_000020.10:g.10626041G>C	VUS	1 lab	4f6deab75b
5:112176863 APC C>T	5	112176863	112176863	C	T	APC	c.5572C>T	NM_000038.6	NP_000029.2:p.(Arg1858Ter)	NC_000005.9:g.112176863C>T	(Likely) pathogenic	1 lab	4f6e402966
8:38279354 FGFR1 C>T	8	38279354	38279354	C	T	FGFR1	c.1042G>A	NM_023110.2	NP_075598.2:p.(Gly348Arg)	NC_000008.10:g.38279354C>T	(Likely) pathogenic	1 lab	4f72e4f47c
17:56690784 TEX14 G>A	17	56690784	56690784	G	A	TEX14	c.1003C>T	NM_031272.5	NP_112562.3:p.(Arg335Ter)	NC_000017.10:g.56690784G>A	(Likely) pathogenic	1 lab	4f735960e5
14:23885997 MYH7 G>A	14	23885997	23885997	G	A	MYH7	c.4644+80C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23885997G>A	(Likely) benign	1 lab	4f7c3f63b9
16:23640594 PALB2 A>G	16	23640594	23640594	A	G	PALB2	c.2517T>C	NM_024675.4	NP_078951.2:p.(Thr839=)	NC_000016.9:g.23640594A>G	(Likely) benign	1 lab	4f7c55b9a3
17:18058744 MYO15A C>G	17	18058744	18058744	C	G	MYO15A	c.8457C>G	NM_016239.3	NP_057323.3:p.(Tyr2819Ter)	NC_000017.10:g.18058744C>G	(Likely) pathogenic	1 lab	4f7e95d773
7:91713010 AKAP9 G>GT	7	91713010	91713016	G	GT	AKAP9	c.8646+47dup	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91713016dup	(Likely) benign	1 lab	4f7f7fb362
X:70348997 MED12 G>A	X	70348997	70348997	G	A	MED12	c.3509G>A	NM_005120.3	NP_005111.2:p.(Arg1170Gln)	NC_000023.10:g.70348997G>A	(Likely) pathogenic	1 lab	4f7ff4f18f
7:91687569 AKAP9 AT>A	7	91687569	91687570	AT	A	AKAP9	c.5602-3004del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91687570del	VUS	1 lab	4f823928cf
2:190925053 MSTN C>A	2	190925053	190925053	C	A	MSTN	c.482G>T	NM_005259.2	NP_005250.1:p.(Arg161Ile)	NC_000002.11:g.190925053C>A	(Likely) benign	1 lab	4f83fd84fd
3:170727739 SLC2A2 T>A	3	170727739	170727739	T	A	SLC2A2	c.496+8A>T	NM_000340.1	NP_000331.1:p.?	NC_000003.11:g.170727739T>A	(Likely) benign	1 lab	4f84e827aa
10:78704731 KCNMA1 A>G	10	78704731	78704731	A	G	KCNMA1	c.2548-8T>C	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78704731A>G	(Likely) benign	1 lab	07a817b895
8:91072438 MISSING G>A	8	91072438	91072438	G	A	MISSING				NC_000008.10:g.91072438G>A	VUS	1 lab	4f8d449a77
12:133208979 POLE T>C	12	133208979	133208979	T	C	POLE	c.6252A>G	NM_006231.2	NP_006222.2:p.(Ser2084=)	NC_000012.11:g.133208979T>C	(Likely) benign	1 lab	4f90d3608c
6:123539772 TRDN G>C	6	123539772	123539772	G	C	TRDN	c.2164C>G	NM_006073.3	NP_006064.2:p.(Pro722Ala)	NC_000006.11:g.123539772G>C	(Likely) benign	1 lab	4f92dba491
2:167140963 SCN9A G>A	2	167140963	167140963	G	A	SCN9A	c.1941+33C>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167140963G>A	(Likely) benign	1 lab	4f94baf0c2
17:29585516 NF1 C>A	17	29585516	29585516	C	A	NF1	c.4328C>A	NM_001042492.3	NP_001035957.1:p.(Ser1443Ter)	NC_000017.10:g.29585516C>A	(Likely) pathogenic	1 lab	4f958a8c41
1:154163786 TPM3 A>C	1	154163786	154163786	A	C	TPM3				NC_000001.10:g.154163786A>C	VUS	1 lab	4f971e3ad6
18:13884727 MC2R A>T	18	13884727	13884727	A	T	MC2R	c.791T>A	NM_000529.2	NP_000520.1:p.(Leu264Ter)	NC_000018.9:g.13884727A>T	(Likely) pathogenic	1 lab	4f97a7ec8b
7:75959346 YWHAG G>A	7	75959346	75959346	G	A	YWHAG	c.292C>T	NM_012479.4	NP_036611.2:p.(Gln98Ter)	NC_000007.13:g.75959346G>A	(Likely) pathogenic	1 lab	4f98763327
6:31917882 CFB C>T	6	31917882	31917882	C	T	CFB	c.1464C>T	NM_001710.5	NP_001701.2:p.(Thr488=)	NC_000006.11:g.31917882C>T	VUS	1 lab	4f9a227d13
9:371522 DOCK8 C>T	9	371522	371522	C	T	DOCK8	c.1963C>T	NM_203447.3	NP_982272.2:p.(Gln655Ter)	NC_000009.11:g.371522C>T	(Likely) pathogenic	1 lab	4f9d30dded
3:129202535 IFT122 G>A	3	129202535	129202535	G	A	IFT122				NC_000003.11:g.129202535G>A	(Likely) benign	1 lab	4f9f5f4c3b
X:9733871 GPR143 G>A	X	9733871	9733871	G	A	GPR143	c.-14C>T	NM_000273.2	NP_000264.2:p.?	NC_000023.10:g.9733871G>A	(Likely) benign	1 lab	4fa026c123
14:23868285 MYH6 G>A	14	23868285	23868285	G	A	MYH6	c.1582-39C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23868285G>A	(Likely) benign	1 lab	4fa05dc750
11:88911177 TYR A>G	11	88911177	88911177	A	G	TYR	c.56A>G	NM_000372.4	NP_000363.1:p.(His19Arg)	NC_000011.9:g.88911177A>G	(Likely) pathogenic	1 lab	4fa16374d8
5:112176014 APC C>CTAGAAGAA	5	112176014	112176023	C	CTAGAAGAA	APC	c.4725_4732dup	NM_000038.6	NP_000029.2:p.(Cys1578Ter)	NC_000005.9:g.112176016_112176023dup	(Likely) pathogenic	1 lab	4fa1ebe1f4
16:2546682 TBC1D24 C>T	16	2546682	2546682	C	T	TBC1D24	c.533C>T	NM_001199107.2	NP_001186036.1:p.(Ser178Leu)	NC_000016.9:g.2546682C>T	(Likely) pathogenic	1 lab	4fa381ca2b
2:48026401 MSH6 T>C	2	48026401	48026401	T	C	MSH6	c.1279T>C	NM_000179.3	NP_000170.1:p.(Tyr427His)	NC_000002.11:g.48026401T>C	VUS	1 lab	4fa5f3a9c2
16:27765502 KATNIP G>A	16	27765502	27765502	G	A	KATNIP	c.3561G>A	NM_015202.3	NP_056017.3:p.(Glu1187=)	NC_000016.9:g.27765502G>A	(Likely) benign	1 lab	07a9ca27b0
5:150701606 SLC36A2 C>T	5	150701606	150701606	C	T	SLC36A2	c.1180+1G>A	NM_181776.3	NP_861441.2:p.?	NC_000005.9:g.150701606C>T	(Likely) pathogenic	1 lab	07ad0678f0
12:57970086 KIF5A A>G	12	57970086	57970086	A	G	KIF5A	c.2123A>G	NM_004984.4	NP_004975.2:p.(Glu708Gly)	NC_000012.11:g.57970086A>G	VUS	1 lab	4fad664688
7:65435269 GUSB C>A	7	65435269	65435269	C	A	GUSB	c.1476G>T	NM_000181.3	NP_000172.2:p.(Gly492=)	NC_000007.13:g.65435269C>A	(Likely) pathogenic	1 lab	4fadc1ee10
16:23640968 PALB2 A>T	16	23640968	23640968	A	T	PALB2	c.2507T>A	NM_024675.4	NP_078951.2:p.(Val836Asp)	NC_000016.9:g.23640968A>T	VUS	1 lab	4fafabbb17
21:46330628 ITGB2 C>T	21	46330628	46330628	C	T	ITGB2	c.58+12G>A	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46330628C>T	(Likely) benign	1 lab	4fb102de69
8:10465942 RP1L1 T>A	8	10465942	10465942	T	A	RP1L1	c.5666A>T	NM_178857.5	NP_849188.4:p.(Asp1889Val)	NC_000008.10:g.10465942T>A	(Likely) benign	1 lab	4fb6826276
X:38144988 RPGR C>T	X	38144988	38144988	C	T	RPGR	c.3264G>A	NM_001034853.1	NP_001030025.1:p.(Val1088=)	NC_000023.10:g.38144988C>T	(Likely) benign	1 lab	4fb8527411
16:30102802 TBX6 T>C	16	30102802	30102802	T	C	TBX6	c.-48-240A>G	NM_004608.4	NP_004599.2:p.?	NC_000016.9:g.30102802T>C	(Likely) pathogenic	1 lab	4fba6e182f
3:48619788 COL7A1 C>A	3	48619788	48619788	C	A	COL7A1	c.4603G>T	NM_000094.3	NP_000085.1:p.(Glu1535Ter)	NC_000003.11:g.48619788C>A	(Likely) pathogenic	1 lab	4fbab31617
9:77436641 TRPM6 G>A	9	77436641	77436641	G	A	TRPM6	c.954C>T	NM_017662.4	NP_060132.3:p.(Gly318=)	NC_000009.11:g.77436641G>A	(Likely) benign	1 lab	4fbc49a14b
12:114836516 TBX5 C>T	12	114836516	114836516	C	T	TBX5	c.372G>A	NM_000192.3	NP_000183.2:p.(Thr124=)	NC_000012.11:g.114836516C>T	(Likely) benign	1 lab	4fbfbf3bfd
17:39925663 JUP C>T	17	39925663	39925663	C	T	JUP	c.468+7G>A	NM_002230.2	NP_002221.1:p.?	NC_000017.10:g.39925663C>T	(Likely) benign	1 lab	4fc05bdd78
17:59876479 BRIP1 A>C	17	59876479	59876479	A	C	BRIP1	c.1322T>G	NM_032043.2	NP_114432.2:p.(Val441Gly)	NC_000017.10:g.59876479A>C	VUS	1 lab	4fc2691feb
X:53224170 KDM5C T>C	X	53224170	53224170	T	C	KDM5C				NC_000023.10:g.53224170T>C	(Likely) benign	1 lab	07b467327d
17:44249199 KANSL1 T>G	17	44249199	44249199	T	G	KANSL1	c.311A>C	NM_001193466.1	NP_001180395.1:p.(Lys104Thr)	NC_000017.10:g.44249199T>G	(Likely) benign	1 lab	4fc7f28396
1:45798843 MUTYH C>T	1	45798843	45798843	C	T	MUTYH	c.389-1G>A	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45798843C>T	(Likely) pathogenic	1 lab	4fcf32917e
2:179511248 TTN C>T	2	179511248	179511248	C	T	TTN	c.40261G>A	NM_001267550.2	NP_001254479.2:p.(Glu13421Lys)	NC_000002.11:g.179511248C>T	VUS	1 lab	4fcfdde96b
15:99456272 IGF1R G>C	15	99456272	99456272	G	C	IGF1R	c.1590-1G>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99456272G>C	(Likely) pathogenic	1 lab	1af8632a30
10:53458628 PRKG1 G>T	10	53458628	53458628	G	T	PRKG1	c.593-105717G>T	NM_006258.3	NP_006249.1:p.?	NC_000010.10:g.53458628G>T	(Likely) benign	1 lab	4fd11a27bb
X:48649496 GATA1 A>T	X	48649496	48649496	A	T	GATA1	c.-19-2A>T	NM_002049.4	NP_002040.1:p.?	NC_000023.10:g.48649496A>T	(Likely) pathogenic	1 lab	4fd338d1ea
16:23614813 PALB2 T>C	16	23614813	23614813	T	C	PALB2	c.3528A>G	NM_024675.3	NP_078951.2:p.(Lys1176=)	NC_000016.9:g.23614813T>C	(Likely) benign	1 lab	4fd355546a
8:42995663 HGSNAT GGCCGCGCTGCTGCTGGCCGCGTCCGTGCTGAGCGCCGCGCTGCTGGCCCCCGGCGGCTCTTCGGGGCGCGAT>G	8	42995663	42995738	GGCCGCGCTGCTGCTGGCCGCGTCCGTGCTGAGCGCCGCGCTGCTGGCCCCCGGCGGCTCTTCGGGGCGCGAT	G	HGSNAT				NC_000008.10:g.42995667_42995738del	(Likely) pathogenic	1 lab	4fd77f8df9
1:1168084 B3GALT6 G>T	1	1168084	1168084	G	T	B3GALT6	c.426G>T	NM_080605.4	NP_542172.2:p.(Trp142Cys)	NC_000001.10:g.1168084G>T	VUS	1 lab	4fde65abea
7:143043902 CLCN1 C>T	7	143043902	143043902	C	T	CLCN1	c.2365-102C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043902C>T	(Likely) benign	1 lab	07b4a98db0
20:33585405 MYH7B G>A	20	33585405	33585405	G	A	MYH7B	c.3835G>A	NM_020884.4	NP_065935.3:p.(Asp1279Asn)	NC_000020.10:g.33585405G>A	VUS	1 lab	4fe202d450
X:48935354 WDR45 G>T	X	48935354	48935354	G	T	WDR45	c.183C>A	NM_001029896.2	NP_001025067.1:p.(Asn61Lys)	NC_000023.10:g.48935354G>T	(Likely) pathogenic	1 lab	4fe3d8ffb9
17:39925407 JUP G>A	17	39925407	39925407	G	A	JUP	c.521C>T	NM_021991.2	NP_068831.1:p.(Ala174Val)	NC_000017.10:g.39925407G>A	VUS	1 lab	4fe4304c61
20:43254237 ADA T>C	20	43254237	43254237	T	C	ADA	c.451A>G	NM_000022.4	NP_000013.2:p.(Ile151Val)	NC_000020.10:g.43254237T>C	VUS	1 lab	4fe543d156
4:5710125 EVC2 C>T	4	5710125	5710125	C	T	EVC2				NC_000004.11:g.5710125C>T	(Likely) pathogenic	1 lab	4fe5bfc243
11:86662842 FZD4 C>T	11	86662842	86662842	C	T	FZD4	c.956G>A	NM_012193.4	NP_036325.2:p.(Trp319Ter)	NC_000011.9:g.86662842C>T	(Likely) pathogenic	1 lab	4fe637497a
16:89846347 FANCA G>A	16	89846347	89846347	G	A	FANCA	c.1645C>T	NM_000135.4	NP_000126.2:p.(Gln549Ter)	NC_000016.9:g.89846347G>A	(Likely) pathogenic	1 lab	4fe9415ac3
1:230849886 AGT T>G	1	230849886	230849886	T	G	AGT	c.-58A>C	NM_000029.3	NP_000020.1:p.?	NC_000001.10:g.230849886T>G	(Likely) benign	1 lab	4feda9f013
20:48098919 KCNB1 G>T	20	48098919	48098919	G	T	KCNB1	c.99C>A	NM_004975.3	NP_004966.1:p.(Val33=)	NC_000020.10:g.48098919G>T	(Likely) benign	1 lab	4ff2d3be6c
1:201019631 CACNA1S A>G	1	201019631	201019631	A	G	CACNA1S	c.4127T>C	NM_000069.2	NP_000060.2:p.(Phe1376Ser)	NC_000001.10:g.201019631A>G	VUS	1 lab	4ff44d716c
X:10102554 WWC3 G>A	X	10102554	10102554	G	A	WWC3	c.2681G>A	NM_015691.3	NP_056506.2:p.(Arg894Gln)	NC_000023.10:g.10102554G>A	(Likely) benign	1 lab	4ff47c5b75
11:4045158 STIM1 A>G	11	4045158	4045158	A	G	STIM1	c.326A>G	NM_003156.3	NP_003147.2:p.(His109Arg)	NC_000011.9:g.4045158A>G	(Likely) pathogenic	1 lab	4ffc774b95
22:21340188 LZTR1 T>G	22	21340188	21340188	T	G	LZTR1	c.320+2T>G	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21340188T>G	(Likely) pathogenic	1 lab	500082b354
16:3292896 MEFV C>T	16	3292896	3292896	C	T	MEFV	c.*245G>A	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3292896C>T	(Likely) benign	1 lab	6d24b839fc
3:114058144 ZBTB20 T>C	3	114058144	114058144	T	C	ZBTB20	c.1934A>G	NM_001348800.3	NP_001335729.1:p.(Gln645Arg)	NC_000003.11:g.114058144T>C	VUS	1 lab	50023ed415
20:62642701 PRPF6 C>T	20	62642701	62642701	C	T	PRPF6	c.1369C>T	NM_012469.3	NP_036601.2:p.(Arg457Trp)	NC_000020.10:g.62642701C>T	VUS	1 lab	50035b3c9d
5:176722360 NSD1 C>T	5	176722360	176722360	C	T	NSD1	c.7991C>T	NM_022455.4	NP_071900.2:p.(Ser2664Phe)	NC_000005.9:g.176722360C>T	VUS	1 lab	5009903e07
12:48398104 COL2A1 T>C	12	48398104	48398104	T	C	COL2A1	c.1A>G	NM_001844.4	NP_001835.3:p.(Met1?)	NC_000012.11:g.48398104T>C	(Likely) pathogenic	1 lab	500af8d2d1
9:129455881 LMX1B G>A	9	129455881	129455881	G	A	LMX1B	c.819+1G>A	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129455881G>A	(Likely) pathogenic	1 lab	500c2dacfb
10:8100286 GATA3 C>A	10	8100286	8100286	C	A	GATA3	c.260C>A	NM_001002295.1	NP_001002295.1:p.(Pro87Gln)	NC_000010.10:g.8100286C>A	VUS	1 lab	500edd7a31
1:94495078 ABCA4 A>G	1	94495078	94495078	A	G	ABCA4	c.4462T>C	NM_000350.2	NP_000341.2:p.(Cys1488Arg)	NC_000001.10:g.94495078A>G	(Likely) pathogenic	1 lab	50132038d2
14:23248023 SLC7A7 T>A	14	23248023	23248023	T	A	SLC7A7	c.749A>T	NM_001126105.2	NP_001119577.1:p.(Glu250Val)	NC_000014.8:g.23248023T>A	(Likely) pathogenic	1 lab	50145651a1
7:151848654 KMT2C T>C	7	151848654	151848654	T	C	KMT2C	c.12539A>G	NM_170606.3	NP_733751.2:p.(Tyr4180Cys)	NC_000007.13:g.151848654T>C	VUS	1 lab	501d0cdd5a
1:94546099 ABCA4 T>C	1	94546099	94546099	T	C	ABCA4	c.1034A>G	NM_000350.2	NP_000341.2:p.(Tyr345Cys)	NC_000001.10:g.94546099T>C	(Likely) pathogenic	1 lab	501dc716da
4:3182381 HTT A>G	4	3182381	3182381	A	G	HTT	c.4749+3A>G	NM_001388492.1	NP_001375421.1:p.?	NC_000004.11:g.3182381A>G	VUS	1 lab	03bc4cffe2
1:145522905 PEX11B C>T	1	145522905	145522905	C	T	PEX11B	c.766C>T	NM_003846.3	NP_003837.1:p.(Arg256Ter)	NC_000001.10:g.145522905C>T	VUS	1 lab	501eec0a01
4:107181669 TBCK T>C	4	107181669	107181669	T	C	TBCK	c.382-2A>G	NM_001163435.3	NP_001156907.2:p.?	NC_000004.11:g.107181669T>C	(Likely) pathogenic	1 lab	501f04789b
1:94497563 ABCA4 C>T	1	94497563	94497563	C	T	ABCA4	c.3899G>A	NM_000350.2	NP_000341.2:p.(Arg1300Gln)	NC_000001.10:g.94497563C>T	(Likely) benign	1 lab	502005ecc2
19:16594874 CALR3 T>C	19	16594874	16594874	T	C	CALR3	c.545A>G	NM_145046.4	NP_659483.2:p.(Tyr182Cys)	NC_000019.9:g.16594874T>C	VUS	1 lab	50207290cf
17:56787284 RAD51C T>G	17	56787284	56787284	T	G	RAD51C	c.770T>G	NM_058216.3	NP_478123.1:p.(Leu257Arg)	NC_000017.10:g.56787284T>G	VUS	1 lab	50207b31ac
17:42457452 ITGA2B G>C	17	42457452	42457452	G	C	ITGA2B	c.1670C>G	NM_000419.4	NP_000410.2:p.(Ser557Cys)	NC_000017.10:g.42457452G>C	VUS	1 lab	50249cea4a
X:74742837 ZDHHC15 G>A	X	74742837	74742837	G	A	ZDHHC15	c.23C>T	NM_144969.2	NP_659406.1:p.(Ala8Val)	NC_000023.10:g.74742837G>A	VUS	1 lab	50287320a3
6:42672173 PRPH2 G>T	6	42672173	42672173	G	T	PRPH2	c.758C>A	NM_000322.5	NP_000313.2:p.(Ala253Asp)	NC_000006.11:g.42672173G>T	VUS	1 lab	50290367ee
13:32889674 BRCA2 C>T	13	32889674	32889674	C	T	BRCA2	c.-170C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889674C>T	(Likely) benign	1 lab	502b9234e1
2:179397571 TTN G>A	2	179397571	179397571	G	A	TTN	c.103771C>T	NM_001267550.2	NP_001254479.2:p.(Arg34591Ter)	NC_000002.11:g.179397571G>A	(Likely) pathogenic	1 lab	502de46ce5
4:1959713 NSD2 C>T	4	1959713	1959713	C	T	NSD2	c.2935C>T	NM_001042424.3	NP_001035889.1:p.(Arg979Ter)	NC_000004.11:g.1959713C>T	(Likely) pathogenic	1 lab	502e9b92f0
5:112175876 APC C>T	5	112175876	112175876	C	T	APC	c.4585C>T	NM_000038.5	NP_000029.2:p.(Gln1529Ter)	NC_000005.9:g.112175876C>T	(Likely) pathogenic	1 lab	5030c659b9
17:7912849 GUCY2D T>C	17	7912849	7912849	T	C	GUCY2D	c.1694T>C	NM_000180.3	NP_000171.1:p.(Phe565Ser)	NC_000017.10:g.7912849T>C	(Likely) pathogenic	1 lab	5034c233e7
2:230670556 TRIP12 AGAGTGGACAAGCTT>A	2	230670556	230670570	AGAGTGGACAAGCTT	A	TRIP12	c.2400_2413del	NM_001284215.1	NP_001271144.1:p.(Ser801GlyfsTer7)	NC_000002.11:g.230670557_230670570del	(Likely) pathogenic	1 lab	5036d28186
5:112174597 APC C>G	5	112174597	112174597	C	G	APC	c.3306C>G	NM_000038.6	NP_000029.2:p.(Tyr1102Ter)	NC_000005.9:g.112174597C>G	(Likely) pathogenic	1 lab	503796313f
16:3293241 MEFV G>C	16	3293241	3293241	G	C	MEFV	c.2246C>G	NM_000243.2	NP_000234.1:p.(Ser749Cys)	NC_000016.9:g.3293241G>C	VUS	1 lab	6e03200850
3:47888040 DHX30 G>A	3	47888040	47888040	G	A	DHX30	c.1361G>A	NM_014966.3	NP_055781.2:p.(Arg454His)	NC_000003.11:g.47888040G>A	(Likely) pathogenic	1 lab	503c7bbeb3
13:32954235 BRCA2 C>G	13	32954235	32954235	C	G	BRCA2	c.9209C>G	NM_000059.3	NP_000050.2:p.(Ser3070Cys)	NC_000013.10:g.32954235C>G	VUS	1 lab	503e3d903e
14:55310809 GCH1 TCA>T	14	55310809	55310813	TCA	T	GCH1	c.677_678del	NM_000161.2	NP_000152.1:p.(Val226AspfsTer23)	NC_000014.8:g.55310812_55310813del	(Likely) pathogenic	1 lab	503f1c452c
11:88911122 TYR A>G	11	88911122	88911122	A	G	TYR	c.1A>G	NM_000372.5	NP_000363.1:p.(Met1?)	NC_000011.9:g.88911122A>G	(Likely) pathogenic	1 lab	503f68078f
6:76558200 MYO6 G>A	6	76558200	76558200	G	A	MYO6	c.1030G>A	NM_004999.4	NP_004990.3:p.(Val344Ile)	NC_000006.11:g.76558200G>A	VUS	1 lab	5042e4cb84
16:2150270 PKD1 CCT>C	16	2150270	2150272	CCT	C	PKD1	c.9607_9608del	NM_001009944.3	NP_001009944.3:p.(Arg3203GlyfsTer14)	NC_000016.9:g.2150271_2150272del	(Likely) pathogenic	1 lab	50444ee56d
2:240274625 HDAC4 G>A	2	240274625	240274625	G	A	HDAC4	c.-219-12C>T	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240274625G>A	(Likely) benign	1 lab	5044632786
2:32289017 SPAST C>G	2	32289017	32289017	C	G	SPAST	c.117C>G	NM_014946.3	NP_055761.2:p.(Ala39=)	NC_000002.11:g.32289017C>G	(Likely) benign	1 lab	504483d087
14:64692195 SYNE2 G>A	14	64692195	64692195	G	A	SYNE2	c.20675G>A	NM_182914.2	NP_878918.2:p.(Arg6892Gln)	NC_000014.8:g.64692195G>A	VUS	1 lab	5044cd2fe4
18:32470306 DTNA G>C	18	32470306	32470306	G	C	DTNA	c.*2608G>C	NM_001386795.1	NP_001373724.1:p.?	NC_000018.9:g.32470306G>C	VUS	1 lab	50453952b8
19:8161835 FBN3 G>C	19	8161835	8161835	G	C	FBN3	c.5343C>G	NM_032447.5	NP_115823.3:p.(Ile1781Met)	NC_000019.9:g.8161835G>C	VUS	1 lab	5047ae93c1
3:148459198 AGTR1 C>T	3	148459198	148459198	C	T	AGTR1	c.376C>T	NM_000685.4	NP_000676.1:p.(Arg126Ter)	NC_000003.11:g.148459198C>T	(Likely) pathogenic	1 lab	504acdc925
1:103544434 COL11A1 A>G	1	103544434	103544434	A	G	COL11A1	c.275-7T>C	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103544434A>G	(Likely) benign	1 lab	504f1e3a65
X:153588839 FLNA A>C	X	153588839	153588839	A	C	FLNA	c.3324T>G	NM_001110556.1	NP_001104026.1:p.(Cys1108Trp)	NC_000023.10:g.153588839A>C	(Likely) benign	1 lab	50502c72ad
X:53459268 HSD17B10 G>A	X	53459268	53459268	G	A	HSD17B10	c.284C>T	NM_004493.2	NP_004484.1:p.(Ala95Val)	NC_000023.10:g.53459268G>A	VUS	1 lab	5050979666
16:56918001 SLC12A3 G>A	16	56918001	56918001	G	A	SLC12A3	c.1710G>A	NM_000339.3	NP_000330.3:p.(Ala570=)	NC_000016.9:g.56918001G>A	(Likely) benign	1 lab	5054116b94
14:23874839 MYH6 T>C	14	23874839	23874839	T	C	MYH6	c.342A>G	NM_002471.4	NP_002462.2:p.(Ile114Met)	NC_000014.8:g.23874839T>C	VUS	1 lab	50550d861d
18:31251713 ASXL3 T>C	18	31251713	31251713	T	C	ASXL3	c.598T>C	NM_030632.3	NP_085135.1:p.(Ser200Pro)	NC_000018.9:g.31251713T>C	VUS	1 lab	04b032d674
1:156104827 LMNA C>T	1	156104827	156104827	C	T	LMNA	c.810+61C>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156104827C>T	(Likely) benign	1 lab	5057118e8b
2:227886851 COL4A4 G>A	2	227886851	227886851	G	A	COL4A4	c.4129C>T	NM_000092.4	NP_000083.3:p.(Arg1377Ter)	NC_000002.11:g.227886851G>A	(Likely) pathogenic	1 lab	505bcf6104
3:100951835 IMPG2 C>T	3	100951835	100951835	C	T	IMPG2	c.3023G>A	NM_016247.4	NP_057331.2:p.(Gly1008Asp)	NC_000003.11:g.100951835C>T	(Likely) pathogenic	1 lab	505f3a4a9b
2:179522592 TTN CAG>C	2	179522592	179522594	CAG	C	TTN	c.37873+14_37873+15del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179522593_179522594del	(Likely) benign	1 lab	07c153f91e
5:112174835 APC A>T	5	112174835	112174835	A	T	APC	c.3544A>T	NM_000038.5	NP_000029.2:p.(Lys1182Ter)	NC_000005.9:g.112174835A>T	(Likely) pathogenic	1 lab	5061f0769d
16:67470294 HSD11B2 G>C	16	67470294	67470294	G	C	HSD11B2	c.802+5G>C	NM_000196.3	NP_000187.3:p.?	NC_000016.9:g.67470294G>C	VUS	1 lab	50632e3cd3
11:47364125 MYBPC3 T>A	11	47364125	47364125	T	A	MYBPC3	c.1624+4A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364125T>A	VUS	1 lab	5064ce8109
9:34372163 LOC127814656 G>T	9	34372163	34372163	G	T	LOC127814656				NC_000009.11:g.34372163G>T	VUS	1 lab	5065e387df
20:60887732 LAMA5 G>A	20	60887732	60887732	G	A	LAMA5	c.9183C>T	NM_005560.4	NP_005551.3:p.(Asp3061=)	NC_000020.10:g.60887732G>A	(Likely) benign	1 lab	07c3f4abc6
17:59821841 BRIP1 C>A	17	59821841	59821841	C	A	BRIP1	c.2209G>T	NM_032043.2	NP_114432.2:p.(Glu737Ter)	NC_000017.10:g.59821841C>A	(Likely) pathogenic	1 lab	50665579c9
5:1878499 IRX4 C>A	5	1878499	1878499	C	A	IRX4	c.1222G>T	NM_001278633.1	NP_001265562.1:p.(Ala408Ser)	NC_000005.9:g.1878499C>A	(Likely) benign	1 lab	50679221d8
13:36129146 NBEA C>T	13	36129146	36129146	C	T	NBEA	c.6829C>T	NM_015678.4	NP_056493.3:p.(Arg2277Ter)	NC_000013.10:g.36129146C>T	(Likely) pathogenic	1 lab	506815fbcc
2:227922253 COL4A4 C>T	2	227922253	227922253	C	T	COL4A4	c.2447G>A	NM_000092.4	NP_000083.3:p.(Gly816Glu)	NC_000002.11:g.227922253C>T	(Likely) pathogenic	1 lab	07c6838d92
12:111351140 MYL2 C>T	12	111351140	111351140	C	T	MYL2	c.275-12G>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351140C>T	(Likely) benign	1 lab	506e7ed257
16:8941934 PMM2 C>A	16	8941934	8941934	C	A	PMM2	c.*252C>A	NM_000303.2	NP_000294.1:p.?	NC_000016.9:g.8941934C>A	(Likely) benign	1 lab	5075b3e2a6
10:119305187 EMX2 G>T	10	119305187	119305187	G	T	EMX2				NC_000010.10:g.119305187G>T	VUS	1 lab	5078e3d8a5
2:179546462 TTN G>C	2	179546462	179546462	G	C	TTN	c.33098C>G	NM_001267550.2	NP_001254479.2:p.(Pro11033Arg)	NC_000002.11:g.179546462G>C	VUS	1 lab	5078ffe179
1:215747426 KCTD3 G>A	1	215747426	215747426	G	A	KCTD3	c.148G>A	NM_016121.3	NP_057205.2:p.(Gly50Arg)	NC_000001.10:g.215747426G>A	VUS	1 lab	507b7036df
17:29684016 NF1 T>A	17	29684016	29684016	T	A	NF1	c.7777T>A	NM_001042492.3	NP_001035957.1:p.(Leu2593Ile)	NC_000017.10:g.29684016T>A	VUS	1 lab	507d687c44
3:70005611 MITF C>T	3	70005611	70005611	C	T	MITF	c.640C>T	NM_000248.3	NP_000239.1:p.(Arg214Ter)	NC_000003.11:g.70005611C>T	(Likely) pathogenic	1 lab	507ebb224b
4:114294321 ANK2 G>T	4	114294321	114294321	G	T	ANK2	c.11686G>T	NM_001148.5	NP_001139.3:p.(Val3896Leu)	NC_000004.11:g.114294321G>T	VUS	1 lab	507edd676c
1:158612548 SPTA1 T>A	1	158612548	158612548	T	A	SPTA1	c.4605+56A>T	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158612548T>A	(Likely) benign	1 lab	07c7152f58
17:41244466 BRCA1 G>A	17	41244466	41244466	G	A	BRCA1	c.3082C>T	NM_007294.3	NP_009225.1:p.(Arg1028Cys)	NC_000017.10:g.41244466G>A	(Likely) benign	1 lab	5080921883
13:32911841 BRCA2 A>G	13	32911841	32911841	A	G	BRCA2	c.3349A>G	NM_000059.3	NP_000050.2:p.(Ile1117Val)	NC_000013.10:g.32911841A>G	VUS	1 lab	5081b46aea
7:6777218 PMS2CL T>C	7	6777218	6777218	T	C	PMS2CL	n.597T>C	NR_002217.1		NC_000007.13:g.6777218T>C	(Likely) benign	1 lab	508203c2fc
17:62019300 SCN4A G>A	17	62019300	62019300	G	A	SCN4A	c.4342C>T	NM_000334.4	NP_000325.4:p.(Arg1448Cys)	NC_000017.10:g.62019300G>A	(Likely) pathogenic	1 lab	508507627e
14:58917318 KIAA0586 A>T	14	58917318	58917318	A	T	KIAA0586	c.1142A>T	NM_001244189.2	NP_001231118.1:p.(Asp381Val)	NC_000014.8:g.58917318A>T	VUS	1 lab	07c9ee1997
1:1471146 TMEM240 C>T	1	1471146	1471146	C	T	TMEM240	c.196G>A	NM_001114748.2	NP_001108220.1:p.(Gly66Arg)	NC_000001.10:g.1471146C>T	VUS	1 lab	5086c4e986
12:6167086 VWF C>CA	12	6167086	6167087	C	CA	VWF	c.1657dup	NM_000552.3	NP_000543.2:p.(Trp553LeufsTer97)	NC_000012.11:g.6167087dup	(Likely) pathogenic	1 lab	5086e07372
9:71650699 FXN AT>A	9	71650699	71650700	AT	A	FXN	c.2del	NM_000144.5	NP_000135.2:p.(Met1?)	NC_000009.11:g.71650700del	(Likely) pathogenic	1 lab	508779ad28
10:112404316 RBM20 C>A	10	112404316	112404316	C	A	RBM20	c.104C>A	NM_001134363.2	NP_001127835.2:p.(Pro35His)	NC_000010.10:g.112404316C>A	VUS	1 lab	508939bc63
15:75941779 SNX33 T>G	15	75941779	75941779	T	G	SNX33	c.336T>G	NM_153271.2	NP_695003.1:p.(Asp112Glu)	NC_000015.9:g.75941779T>G	VUS	1 lab	04d60c611e
1:236914804 ACTN2 C>T	1	236914804	236914804	C	T	ACTN2	c.1691C>T	NM_001103.4	NP_001094.1:p.(Thr564Met)	NC_000001.10:g.236914804C>T	VUS	1 lab	508de0b60e
19:38948716 RYR1 C>T	19	38948716	38948716	C	T	RYR1	c.1951C>T	NM_000540.2	NP_000531.2:p.(Arg651Ter)	NC_000019.9:g.38948716C>T	(Likely) pathogenic	1 lab	5090745e16
7:151262305 PRKAG2 A>C	7	151262305	151262305	A	C	PRKAG2	c.1437+127T>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151262305A>C	(Likely) benign	1 lab	50929fa834
13:77714270 MYCBP2 G>A	13	77714270	77714270	G	A	MYCBP2	c.7430C>T	NM_015057.4	NP_055872.4:p.(Ala2477Val)	NC_000013.10:g.77714270G>A	VUS	1 lab	50952723ba
2:128180969 PROC C>T	2	128180969	128180969	C	T	PROC	c.520C>T	NM_000312.3	NP_000303.1:p.(Gln174Ter)	NC_000002.11:g.128180969C>T	(Likely) pathogenic	1 lab	50952e0d37
15:78337329 TBC1D2B AC>A	15	78337329	78337331	AC	A	TBC1D2B	c.595del	NM_144572.1	NP_653173.1:p.(Val199TrpfsTer22)	NC_000015.9:g.78337331del	(Likely) pathogenic	1 lab	5096179746
17:78180771 CARD14 C>T	17	78180771	78180771	C	T	CARD14	c.2694C>T	NM_024110.4	NP_077015.2:p.(Asn898=)	NC_000017.10:g.78180771C>T	(Likely) benign	1 lab	07caec196f
16:1575889 IFT140 A>C	16	1575889	1575889	A	C	IFT140	c.2767T>G	NM_014714.3	NP_055529.2:p.(Tyr923Asp)	NC_000016.9:g.1575889A>C	(Likely) pathogenic	1 lab	509b265c01
14:88892585 SPATA7 G>A	14	88892585	88892585	G	A	SPATA7	c.382G>A	NM_018418.4	NP_060888.2:p.(Glu128Lys)	NC_000014.8:g.88892585G>A	VUS	1 lab	50a1f65fd5
4:16002235 PROM1 C>A	4	16002235	16002235	C	A	PROM1	c.1462G>T	NM_006017.2	NP_006008.1:p.(Gly488Ter)	NC_000004.11:g.16002235C>A	(Likely) pathogenic	1 lab	50a6f4dc94
12:88890521 KITLG C>T	12	88890521	88890521	C	T	KITLG	c.*475G>A	NM_000899.4	NP_000890.1:p.?	NC_000012.11:g.88890521C>T	(Likely) benign	1 lab	50a8bb4328
16:89167413 ACSF3 C>T	16	89167413	89167413	C	T	ACSF3	c.324C>T	NM_174917.3	NP_777577.2:p.(Tyr108=)	NC_000016.9:g.89167413C>T	(Likely) benign	1 lab	50a9d76926
19:11199942 LDLR G>C	19	11199942	11199942	G	C	LDLR				NC_000019.9:g.11199942G>C	VUS	1 lab	1b94a9d4b2
16:2166858 PKD1 A>C	16	2166858	2166858	A	C	PKD1	c.1582T>G	NM_001009944.3	NP_001009944.3:p.(Tyr528Asp)	NC_000016.9:g.2166858A>C	(Likely) pathogenic	1 lab	50b2c58c15
1:171083242 FMO3 A>G	1	171083242	171083242	A	G	FMO3	c.923A>G	NM_001002294.2	NP_001002294.1:p.(Glu308Gly)	NC_000001.10:g.171083242A>G	VUS	1 lab	50b307e192
7:114292307 FOXP2 C>T	7	114292307	114292307	C	T	FOXP2	c.1144C>T	NM_014491.4	NP_055306.1:p.(Arg382Ter)	NC_000007.13:g.114292307C>T	(Likely) pathogenic	1 lab	50b49bc6dc
4:114158133 ANK2 A>G	4	114158133	114158133	A	G	ANK2	c.484-10A>G	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114158133A>G	(Likely) benign	1 lab	50bc38b1e3
1:220340637 RAB3GAP2 C>A	1	220340637	220340637	C	A	RAB3GAP2	c.3085G>T	NM_012414.3	NP_036546.2:p.(Glu1029Ter)	NC_000001.10:g.220340637C>A	(Likely) pathogenic	1 lab	50c30e0478
1:229569803 ACTA1 A>G	1	229569803	229569803	A	G	ACTA1	c.-65T>C	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229569803A>G	(Likely) benign	1 lab	50c998684b
18:55268967 NARS1 G>A	18	55268967	55268967	G	A	NARS1	c.1564C>T	NM_004539.4	NP_004530.1:p.(Arg522Ter)	NC_000018.9:g.55268967G>A	VUS	1 lab	50cb0bd78c
17:59821939 BRIP1 A>C	17	59821939	59821939	A	C	BRIP1	c.2111T>G	NM_032043.3	NP_114432.2:p.(Leu704Ter)	NC_000017.10:g.59821939A>C	(Likely) pathogenic	1 lab	50cc8364cc
16:70304179 AARS G>A	16	70304179	70304179	G	A	AARS				NC_000016.9:g.70304179G>A	VUS	1 lab	50ce529a9f
11:128781834 KCNJ5 C>T	11	128781834	128781834	C	T	KCNJ5	c.666C>T	NM_000890.3	NP_000881.3:p.(Gly222=)	NC_000011.9:g.128781834C>T	(Likely) benign	1 lab	50d1e8fd03
1:92762951 GLMN T>C	1	92762951	92762951	T	C	GLMN	c.165+10A>G	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92762951T>C	(Likely) benign	1 lab	1bb4666731
X:49050784 SYP G>A	X	49050784	49050784	G	A	SYP	c.262C>T	NM_003179.3	NP_003170.1:p.(Arg88Ter)	NC_000023.10:g.49050784G>A	(Likely) pathogenic	1 lab	50d4540c63
16:3293228 MEFV T>C	16	3293228	3293228	T	C	MEFV	c.2259A>G	NM_000243.2	NP_000234.1:p.(Gln753=)	NC_000016.9:g.3293228T>C	(Likely) benign	1 lab	07d2e68764
X:136649426 ZIC3 G>C	X	136649426	136649426	G	C	ZIC3	c.576G>C	NM_003413.4	NP_003404.1:p.(Leu192=)	NC_000023.10:g.136649426G>C	(Likely) benign	1 lab	07d83de4fd
5:7867409 FASTKD3 A>C	5	7867409	7867409	A	C	FASTKD3	c.788T>G	NM_024091.4	NP_076996.2:p.(Leu263Trp)	NC_000005.9:g.7867409A>C	VUS	1 lab	052ee9ae88
17:48245904 SGCA C>A	17	48245904	48245904	C	A	SGCA	c.555C>A	NM_000023.3	NP_000014.1:p.(Val185=)	NC_000017.10:g.48245904C>A	(Likely) benign	1 lab	50de0e1c65
1:215955440 USH2A C>A	1	215955440	215955440	C	A	USH2A	c.10684G>T	NM_206933.4	NP_996816.3:p.(Glu3562Ter)	NC_000001.10:g.215955440C>A	(Likely) pathogenic	1 lab	50deed8bd6
7:97488185 ASNS CCTT>C	7	97488185	97488190	CCTT	C	ASNS	c.753_755del	NM_001673.5	NP_001664.3:p.(Arg252del)	NC_000007.13:g.97488188_97488190del	VUS	1 lab	50e13bd03a
9:139393610 NOTCH1 C>T	9	139393610	139393610	C	T	NOTCH1	c.6036G>A	NM_017617.3	NP_060087.3:p.(Glu2012=)	NC_000009.11:g.139393610C>T	(Likely) benign	1 lab	50ecccbb1f
1:216219772 USH2A C>G	1	216219772	216219772	C	G	USH2A	c.6325+1G>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216219772C>G	(Likely) pathogenic	1 lab	50eecd59e3
X:153008787 ABCD1 C>T	X	153008787	153008787	C	T	ABCD1	c.1978C>T	NM_000033.3	NP_000024.2:p.(Arg660Trp)	NC_000023.10:g.153008787C>T	(Likely) pathogenic	1 lab	50ef6bdf34
2:179412013 TTN G>T	2	179412013	179412013	G	T	TTN	c.94239C>A	NM_001267550.2	NP_001254479.2:p.(Thr31413=)	NC_000002.11:g.179412013G>T	(Likely) benign	1 lab	50f18dfc52
7:138845764 IFT56 A>G	7	138845764	138845764	A	G	IFT56	c.788A>G	NM_024926.2	NP_079202.2:p.(Asn263Ser)	NC_000007.13:g.138845764A>G	VUS	1 lab	50f32e9ce2
5:176830451 F12 C>T	5	176830451	176830451	C	T	F12	c.1387+31G>A	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176830451C>T	(Likely) benign	1 lab	50f650598d
2:29006800 PPP1CB A>C	2	29006800	29006800	A	C	PPP1CB	c.548A>C	NM_002709.2	NP_002700.1:p.(Glu183Ala)	NC_000002.11:g.29006800A>C	(Likely) pathogenic	1 lab	50f7a9c71c
17:7918736 GUCY2D CTG>C	17	7918736	7918738	CTG	C	GUCY2D	c.2861_2862del	NM_000180.3	NP_000171.1:p.(Leu954ArgfsTer16)	NC_000017.10:g.7918737_7918738del	(Likely) pathogenic	1 lab	50f81ec7b3
22:41918981 ACO2 G>A	22	41918981	41918981	G	A	ACO2	c.1286G>A	NM_001098.3	NP_001089.1:p.(Arg429Gln)	NC_000022.10:g.41918981G>A	VUS	1 lab	50fb91ffaf
9:139840471 C8G G>T	9	139840471	139840471	G	T	C8G	c.346+20G>T	NM_000606.2	NP_000597.2:p.?	NC_000009.11:g.139840471G>T	(Likely) benign	1 lab	5106feeaea
2:220290370 DES T>C	2	220290370	220290370	T	C	DES	c.1289-15T>C	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290370T>C	(Likely) benign	1 lab	510a59e180
1:3334478 PRDM16 C>T	1	3334478	3334478	C	T	PRDM16	c.2778C>T	NM_022114.3	NP_071397.3:p.(Pro926=)	NC_000001.10:g.3334478C>T	(Likely) benign	1 lab	510abcb2f0
2:47708009 MSH2 A>T	2	47708009	47708009	A	T	MSH2	c.2633A>T	NM_000251.3	NP_000242.1:p.(Glu878Val)	NC_000002.11:g.47708009A>T	VUS	1 lab	510afafc51
3:70005642 MITF T>C	3	70005642	70005642	T	C	MITF				NC_000003.11:g.70005642T>C	(Likely) pathogenic	1 lab	510f180ba8
14:23898029 MYH7 A>T	14	23898029	23898029	A	T	MYH7	c.1407+135T>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23898029A>T	(Likely) benign	1 lab	510f1c96c0
4:175439229 HPGD C>A	4	175439229	175439229	C	A	HPGD	c.218-1G>T	NM_000860.5	NP_000851.2:p.?	NC_000004.11:g.175439229C>A	(Likely) pathogenic	1 lab	511006984d
1:8418867 RERE G>A	1	8418867	8418867	G	A	RERE	c.3728C>T	NM_012102.4	NP_036234.3:p.(Pro1243Leu)	NC_000001.10:g.8418867G>A	VUS	1 lab	51100da016
4:146461151 SMAD1 G>A	4	146461151	146461151	G	A	SMAD1	c.596G>A	NM_001003688.1	NP_001003688.1:p.(Ser199Asn)	NC_000004.11:g.146461151G>A	VUS	1 lab	511052727e
17:79478063 ACTG1 C>T	17	79478063	79478063	C	T	ACTG1	c.874G>A	NM_001199954.1	NP_001186883.1:p.(Asp292Asn)	NC_000017.10:g.79478063C>T	VUS	1 lab	511283b823
11:108117855 ATM G>A	11	108117855	108117855	G	A	ATM	c.1065+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108117855G>A	(Likely) pathogenic	1 lab	5114f46156
16:23647074 PALB2 T>C	16	23647074	23647074	T	C	PALB2	c.793A>G	NM_024675.3	NP_078951.2:p.(Ile265Val)	NC_000016.9:g.23647074T>C	(Likely) benign	1 lab	5114f46729
22:38379455 SOX10 C>T	22	38379455	38379455	C	T	SOX10	c.337G>A	NM_006941.4	NP_008872.1:p.(Val113Met)	NC_000022.10:g.38379455C>T	VUS	1 lab	51171cec37
2:8871656 KIDINS220 G>A	2	8871656	8871656	G	A	KIDINS220	c.4510C>T	NM_020738.4	NP_065789.1:p.(Gln1504Ter)	NC_000002.11:g.8871656G>A	(Likely) pathogenic	1 lab	5117dbb6a0
20:33570285 MYH7B C>T	20	33570285	33570285	C	T	MYH7B	c.677C>T	NM_020884.4	NP_065935.3:p.(Thr226Met)	NC_000020.10:g.33570285C>T	(Likely) benign	1 lab	511b46d54a
7:94043204 COL1A2 A>G	7	94043204	94043204	A	G	COL1A2	c.1612-2A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94043204A>G	(Likely) pathogenic	1 lab	511d95fa5a
X:153128827 L1CAM C>T	X	153128827	153128827	C	T	L1CAM	c.3538G>A	NM_000425.4	NP_000416.1:p.(Glu1180Lys)	NC_000023.10:g.153128827C>T	VUS	1 lab	511f77732c
16:21693147 OTOA G>A	16	21693147	21693147	G	A	OTOA	c.267+1G>A	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21693147G>A	(Likely) pathogenic	1 lab	511f837911
1:43394679 SLC2A1 C>T	1	43394679	43394679	C	T	SLC2A1	c.998G>A	NM_006516.4	NP_006507.2:p.(Arg333Gln)	NC_000001.10:g.43394679C>T	(Likely) pathogenic	1 lab	511f9cf2e7
11:76883863 MYO7A C>T	11	76883863	76883863	C	T	MYO7A	c.1867C>T	NM_000260.3	NP_000251.3:p.(Arg623Cys)	NC_000011.9:g.76883863C>T	VUS	1 lab	511fd718bd
2:71163173 ATP6V1B1 C>T	2	71163173	71163173	C	T	ATP6V1B1	c.89C>T	NM_001692.3	NP_001683.2:p.(Thr30Ile)	NC_000002.11:g.71163173C>T	(Likely) benign	1 lab	5120a5f25d
11:2906703 CDKN1C A>G	11	2906703	2906703	A	G	CDKN1C	c.-10-7T>C	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2906703A>G	VUS	1 lab	5120c92f8f
5:122722369 CEP120 TTA>T	5	122722369	122722371	TTA	T	CEP120	c.1431-10_1431-9del	NM_153223.3	NP_694955.2:p.?	NC_000005.9:g.122722370_122722371del	(Likely) benign	1 lab	07db30d148
19:18980949 GDF1 C>T	19	18980949	18980949	C	T	GDF1	c.168G>A	NM_001492.5	NP_001483.3:p.(Arg56=)	NC_000019.9:g.18980949C>T	(Likely) benign	1 lab	5125625c2e
11:108170698 ATM C>T	11	108170698	108170698	C	T	ATM	c.5177+86C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108170698C>T	(Likely) benign	1 lab	5127ba42be
1:205156565 DSTYK A>G	1	205156565	205156565	A	G	DSTYK	c.635T>C	NM_015375.2	NP_056190.1:p.(Met212Thr)	NC_000001.10:g.205156565A>G	VUS	1 lab	512828af00
1:215821909 USH2A C>T	1	215821909	215821909	C	T	USH2A	c.14543G>A	NM_206933.2	NP_996816.2:p.(Arg4848Gln)	NC_000001.10:g.215821909C>T	(Likely) benign	1 lab	5128db1752
3:12650378 RAF1 C>T	3	12650378	12650378	C	T	RAF1	c.468G>A	NM_002880.3	NP_002871.1:p.(Gln156=)	NC_000003.11:g.12650378C>T	(Likely) benign	1 lab	07dbc3fbce
X:70627452 TAF1 G>A	X	70627452	70627452	G	A	TAF1	c.4136G>A	NM_004606.5	NP_004597.3:p.(Arg1379His)	NC_000023.10:g.70627452G>A	VUS	1 lab	512d250ba8
13:32915362 BRCA2 G>A	13	32915362	32915362	G	A	BRCA2	c.6841+29G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32915362G>A	(Likely) benign	1 lab	512e2e137c
16:89345725 ANKRD11 C>G	16	89345725	89345725	C	G	ANKRD11	c.7225G>C	NM_013275.6	NP_037407.4:p.(Glu2409Gln)	NC_000016.9:g.89345725C>G	VUS	1 lab	513411be9e
7:91694571 AKAP9 A>G	7	91694571	91694571	A	G	AKAP9	c.6004A>G	NM_005751.4	NP_005742.4:p.(Met2002Val)	NC_000007.13:g.91694571A>G	VUS	1 lab	51359fb6ae
3:45458981 LARS2 A>G	3	45458981	45458981	A	G	LARS2	c.371A>G	NM_015340.4	NP_056155.1:p.(Asn124Ser)	NC_000003.11:g.45458981A>G	VUS	1 lab	513758235c
3:46902129 MYL3 T>G	3	46902129	46902129	T	G	MYL3	c.307+37A>C	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46902129T>G	(Likely) benign	1 lab	513900f57a
X:107829859 COL4A5 T>C	X	107829859	107829859	T	C	COL4A5	c.1047T>C	NM_033380.2	NP_203699.1:p.(Pro349=)	NC_000023.10:g.107829859T>C	(Likely) benign	1 lab	513bc95907
2:170112615 LRP2 C>T	2	170112615	170112615	C	T	LRP2	c.2770+1G>A	NM_004525.2	NP_004516.2:p.?	NC_000002.11:g.170112615C>T	(Likely) pathogenic	1 lab	513cb1d300
2:227892498 COL4A4 A>G	2	227892498	227892498	A	G	COL4A4	c.4081+120T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227892498A>G	(Likely) benign	1 lab	513d4cbe41
3:71050190 FOXP1 G>A	3	71050190	71050190	G	A	FOXP1	c.995C>T	NM_032682.5	NP_116071.2:p.(Ala332Val)	NC_000003.11:g.71050190G>A	VUS	1 lab	513e4c8d46
7:128494358 FLNC G>A	7	128494358	128494358	G	A	FLNC	c.6727+88G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128494358G>A	(Likely) benign	1 lab	07dc5edf04
22:21343969 LZTR1 G>T	22	21343969	21343969	G	T	LZTR1	c.649G>T	NM_006767.3	NP_006758.2:p.(Glu217Ter)	NC_000022.10:g.21343969G>T	(Likely) pathogenic	1 lab	5145c5f223
11:119155969 CBL C>T	11	119155969	119155969	C	T	CBL	c.1634C>T	NM_005188.3	NP_005179.2:p.(Pro545Leu)	NC_000011.9:g.119155969C>T	VUS	1 lab	5146649357
5:112176574 APC C>A	5	112176574	112176574	C	A	APC	c.5283C>A	NM_000038.6	NP_000029.2:p.(Asn1761Lys)	NC_000005.9:g.112176574C>A	(Likely) benign	1 lab	5147b8fa2d
2:225367675 CUL3 A>C	2	225367675	225367675	A	C	CUL3	c.1485+7T>G	NM_003590.5	NP_003581.1:p.?	NC_000002.11:g.225367675A>C	(Likely) benign	1 lab	07e49702b4
17:1650614 SERPINF2 AAAG>A	17	1650614	1650621	AAAG	A	SERPINF2	c.528_530del	NM_000934.3	NP_000925.2:p.(Glu176del)	NC_000017.10:g.1650619_1650621del	(Likely) pathogenic	1 lab	514b9021da
1:152285099 FLG C>T	1	152285099	152285099	C	T	FLG	c.2263G>A	NM_002016.1	NP_002007.1:p.(Glu755Lys)	NC_000001.10:g.152285099C>T	(Likely) benign	1 lab	514d4d0b28
19:55668384 TNNI3 G>A	19	55668384	55668384	G	A	TNNI3	c.108+34C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668384G>A	(Likely) benign	1 lab	5151c9d5fa
X:12735799 FRMPD4 G>A	X	12735799	12735799	G	A	FRMPD4	c.2854G>A	NM_001368397.1	NP_001355326.1:p.(Glu952Lys)	NC_000023.10:g.12735799G>A	VUS	1 lab	5152b91ce5
5:55168257 IL31RA A>G	5	55168257	55168257	A	G	IL31RA	c.432A>G	NM_139017.6	NP_620586.3:p.(Thr144=)	NC_000005.9:g.55168257A>G	(Likely) benign	1 lab	07e782db74
13:48878155 RB1 A>G	13	48878155	48878155	A	G	RB1	c.107A>G	NM_000321.2	NP_000312.2:p.(Asp36Gly)	NC_000013.10:g.48878155A>G	VUS	1 lab	736dcf9a22
10:88659808 BMPR1A G>A	10	88659808	88659808	G	A	BMPR1A	c.455G>A	NM_004329.2	NP_004320.2:p.(Arg152Gln)	NC_000010.10:g.88659808G>A	VUS	1 lab	516148f49c
11:26656600 ANO3 C>T	11	26656600	26656600	C	T	ANO3	c.2209C>T	NM_001313726.1	NP_001300655.1:p.(Arg737Trp)	NC_000011.9:g.26656600C>T	VUS	1 lab	516444288d
11:47368160 MYBPC3 G>A	11	47368160	47368160	G	A	MYBPC3	c.926+18C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368160G>A	(Likely) benign	1 lab	5165431989
15:89758291 RLBP1 C>G	15	89758291	89758291	C	G	RLBP1	c.525G>C	NM_000326.4	NP_000317.1:p.(Glu175Asp)	NC_000015.9:g.89758291C>G	VUS	1 lab	51674c68f3
7:35289451 TBX20 C>T	7	35289451	35289451	C	T	TBX20	c.380+112G>A	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35289451C>T	(Likely) benign	1 lab	5168ebe46a
10:112333446 SMC3 A>G	10	112333446	112333446	A	G	SMC3	c.92-19A>G	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112333446A>G	(Likely) benign	1 lab	516c02bb90
2:215854156 ABCA12 C>T	2	215854156	215854156	C	T	ABCA12	c.3726G>A	NM_173076.2	NP_775099.2:p.(Pro1242=)	NC_000002.11:g.215854156C>T	(Likely) benign	1 lab	516fbadafa
1:216390860 USH2A G>C	1	216390860	216390860	G	C	USH2A	c.3026C>G	NM_206933.2	NP_996816.2:p.(Ala1009Gly)	NC_000001.10:g.216390860G>C	VUS	1 lab	517328c10a
X:48934399 WDR45 C>T	X	48934399	48934399	C	T	WDR45	c.249G>A	NM_007075.3	NP_009006.2:p.(Trp83Ter)	NC_000023.10:g.48934399C>T	(Likely) pathogenic	1 lab	5176044be6
3:70001016 MITF A>G	3	70001016	70001016	A	G	MITF	c.934A>G	NM_001354604.2	NP_001341533.1:p.(Lys312Glu)	NC_000003.11:g.70001016A>G	(Likely) pathogenic	1 lab	5176697a49
17:41197882 BRCA1 C>A	17	41197882	41197882	C	A	BRCA1	c.5468-63G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197882C>A	(Likely) benign	1 lab	51787b3e8a
5:156186360 SGCD G>A	5	156186360	156186360	G	A	SGCD	c.832G>A	NM_000337.5	NP_000328.2:p.(Ala278Thr)	NC_000005.9:g.156186360G>A	(Likely) benign	1 lab	517a68ad62
20:33574742 MYH7B G>A	20	33574742	33574742	G	A	MYH7B	c.1084G>A	NM_020884.4	NP_065935.3:p.(Val362Ile)	NC_000020.10:g.33574742G>A	(Likely) benign	1 lab	517dd2ca4d
11:4107716 STIM1 T>A	11	4107716	4107716	T	A	STIM1	c.1484T>A	NM_001277961.1	NP_001264890.1:p.(Leu495Gln)	NC_000011.9:g.4107716T>A	VUS	1 lab	517e4f4560
18:19371378 MIB1 C>T	18	19371378	19371378	C	T	MIB1	c.952C>T	NM_020774.3	NP_065825.1:p.(Arg318Ter)	NC_000018.9:g.19371378C>T	VUS	1 lab	517fd39e1d
4:43032423 GRXCR1 T>A	4	43032423	43032423	T	A	GRXCR1	c.739T>A	NM_001080476.2	NP_001073945.1:p.(Phe247Ile)	NC_000004.11:g.43032423T>A	VUS	1 lab	51813b72e1
12:8802109 MFAP5 C>T	12	8802109	8802109	C	T	MFAP5	c.397G>A	NM_003480.3	NP_003471.1:p.(Glu133Lys)	NC_000012.11:g.8802109C>T	VUS	1 lab	5182edaf29
11:111957613 SDHD T>C	11	111957613	111957613	T	C	SDHD	c.-19T>C	NM_003002.3	NP_002993.1:p.?	NC_000011.9:g.111957613T>C	(Likely) benign	1 lab	518390f3b1
17:17131264 FLCN G>T	17	17131264	17131264	G	T	FLCN	c.188C>A	NM_144997.5	NP_659434.2:p.(Pro63His)	NC_000017.10:g.17131264G>T	VUS	1 lab	5188dd5f3c
11:2182224 INS A>T	11	2182224	2182224	A	T	INS	c.-23T>A	NM_001185098.2	NP_001172027.1:p.?	NC_000011.9:g.2182224A>T	(Likely) benign	1 lab	1be81546cd
5:88025845 MEF2C CAA>C	5	88025845	88025856	CAA	C	MEF2C	c.834+181_834+182del	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88025855_88025856del	(Likely) benign	1 lab	07ea969df9
1:196874356 CFHR4 G>T	1	196874356	196874356	G	T	CFHR4	c.375G>T	NM_001201550.2	NP_001188479.1:p.(Glu125Asp)	NC_000001.10:g.196874356G>T	(Likely) benign	1 lab	518ce704c9
18:57106986 CCBE1 C>T	18	57106986	57106986	C	T	CCBE1	c.838G>A	NM_133459.3	NP_597716.1:p.(Gly280Ser)	NC_000018.9:g.57106986C>T	(Likely) pathogenic	1 lab	518e3d5f63
6:7585509 DSP C>G	6	7585509	7585509	C	G	DSP	c.8014C>G	NM_004415.2	NP_004406.2:p.(Gln2672Glu)	NC_000006.11:g.7585509C>G	VUS	1 lab	07ebda8b42
5:138857099 TMEM173 G>A	5	138857099	138857099	G	A	TMEM173				NC_000005.9:g.138857099G>A	VUS	1 lab	519287cd83
5:70234668 SMN1 C>T	5	70234668	70234668	C	T	SMN1	c.84C>T	NM_000344.3	NP_000335.1:p.(Ser28=)	NC_000005.9:g.70234668C>T	VUS	1 lab	7929e411d0
12:6232312 VWF C>CA	12	6232312	6232316	C	CA	VWF	c.50dup	NM_000552.3	NP_000543.2:p.(Leu17PhefsTer25)	NC_000012.11:g.6232316dup	(Likely) pathogenic	1 lab	5193a9885b
1:225609763 LBR G>A	1	225609763	225609763	G	A	LBR	c.366+16C>T	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225609763G>A	(Likely) benign	1 lab	5195b12ba8
14:23901053 MYH7 C>G	14	23901053	23901053	C	G	MYH7	c.556G>C	NM_000257.3	NP_000248.2:p.(Val186Leu)	NC_000014.8:g.23901053C>G	VUS	1 lab	5196c4f1f6
12:21715899 GYS2 C>G	12	21715899	21715899	C	G	GYS2	c.1015G>C	NM_021957.4	NP_068776.2:p.(Ala339Pro)	NC_000012.11:g.21715899C>G	(Likely) pathogenic	1 lab	5198772318
3:183881500 DVL3 C>T	3	183881500	183881500	C	T	DVL3	c.217C>T	NM_004423.3	NP_004414.3:p.(Arg73Trp)	NC_000003.11:g.183881500C>T	VUS	1 lab	519ed3976c
3:38781051 SCN10A G>T	3	38781051	38781051	G	T	SCN10A	c.2235C>A	NM_006514.3	NP_006505.3:p.(Gly745=)	NC_000003.11:g.38781051G>T	(Likely) benign	1 lab	51a4ab9e29
5:112175541 APC TTA>T	5	112175541	112175545	TTA	T	APC	c.4253_4254del	NM_000038.6	NP_000029.2:p.(Ile1418LysfsTer4)	NC_000005.9:g.112175544_112175545del	(Likely) pathogenic	1 lab	51a4bbb135
7:143018813 CLCN1 G>A	7	143018813	143018813	G	A	CLCN1	c.568G>A	NM_000083.3	NP_000074.3:p.(Gly190Arg)	NC_000007.13:g.143018813G>A	VUS	1 lab	51a582aa46
7:24745870 GSDME C>T	7	24745870	24745870	C	T	GSDME	c.1116G>A	NM_004403.2	NP_004394.1:p.(Pro372=)	NC_000007.13:g.24745870C>T	(Likely) benign	1 lab	51a6b64bb2
16:53860040 FTO GC>G	16	53860040	53860041	GC	G	FTO	c.389del	NM_001080432.2	NP_001073901.1:p.(Ala130ValfsTer3)	NC_000016.9:g.53860041del	(Likely) pathogenic	1 lab	51abc8b52f
X:32662271 DMD C>G	X	32662271	32662271	C	G	DMD	c.1309G>C	NM_004006.3	NP_003997.2:p.(Ala437Pro)	NC_000023.10:g.32662271C>G	VUS	1 lab	0aa115d68b
22:51169558 MISSING G>T	22	51169558	51169558	G	T	MISSING				NC_000022.10:g.51169558G>T	(Likely) pathogenic	1 lab	51ae2d17be
1:207940525 CD46 C>T	1	207940525	207940525	C	T	CD46	c.841C>T	NM_002389.4	NP_002380.3:p.(Pro281Ser)	NC_000001.10:g.207940525C>T	(Likely) pathogenic	1 lab	51ae4f3a1f
16:2550399 TBC1D24 G>T	16	2550399	2550399	G	T	TBC1D24	c.1433G>T	NM_001199107.1	NP_001186036.1:p.(Arg478Leu)	NC_000016.9:g.2550399G>T	VUS	1 lab	51af8b9010
3:8787723 CAV3 A>G	3	8787723	8787723	A	G	CAV3	c.*170A>G	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8787723A>G	VUS	1 lab	51afd8da77
11:68704218 IGHMBP2 G>A	11	68704218	68704218	G	A	IGHMBP2				NC_000011.9:g.68704218G>A	(Likely) benign	1 lab	51b50f10bf
13:32918761 BRCA2 C>T	13	32918761	32918761	C	T	BRCA2	c.6908C>T	NM_000059.3	NP_000050.2:p.(Ser2303Phe)	NC_000013.10:g.32918761C>T	VUS	1 lab	51b5515d63
1:215848696 USH2A A>G	1	215848696	215848696	A	G	USH2A	c.12557T>C	NM_206933.2	NP_996816.2:p.(Ile4186Thr)	NC_000001.10:g.215848696A>G	VUS	1 lab	51b90126fa
10:73571521 CDH23 G>A	10	73571521	73571521	G	A	CDH23	c.9319+11G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73571521G>A	(Likely) benign	1 lab	51bb4b6893
5:139494441 PURA T>TA	5	139494441	139494442	T	TA	PURA	c.675_676insA	NM_005859.4	NP_005850.1:p.(Val226SerfsTer68)	NC_000005.9:g.139494441_139494442insA	(Likely) pathogenic	1 lab	51c335676c
5:90055260 ADGRV1 A>G	5	90055260	90055260	A	G	ADGRV1	c.11975A>G	NM_032119.3	NP_115495.3:p.(Asp3992Gly)	NC_000005.9:g.90055260A>G	VUS	1 lab	51c5858b72
13:96205224 CLDN10 G>A	13	96205224	96205224	G	A	CLDN10	c.217G>A	NM_006984.4	NP_008915.1:p.(Asp73Asn)	NC_000013.10:g.96205224G>A	VUS	1 lab	51c689144a
1:103363701 COL11A1 C>T	1	103363701	103363701	C	T	COL11A1	c.4282G>A	NM_001854.4	NP_001845.3:p.(Asp1428Asn)	NC_000001.10:g.103363701C>T	VUS	1 lab	51c8095e9d
11:47362670 MYBPC3 T>A	11	47362670	47362670	T	A	MYBPC3	c.1897+19A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362670T>A	(Likely) benign	1 lab	07ef3b999c
17:33434095 RAD51D T>C	17	33434095	33434095	T	C	RAD51D				NC_000017.10:g.33434095T>C	(Likely) benign	1 lab	51cd4e17ea
9:123716103 C5 T>C	9	123716103	123716103	T	C	C5	c.4806A>G	NM_001735.2	NP_001726.2:p.(Lys1602=)	NC_000009.11:g.123716103T>C	(Likely) benign	1 lab	51ce910130
3:48611323 COL7A1 C>G	3	48611323	48611323	C	G	COL7A1	c.6502G>C	NM_000094.3	NP_000085.1:p.(Gly2168Arg)	NC_000003.11:g.48611323C>G	VUS	1 lab	51d08c1e9c
8:61736499 CHD7 G>T	8	61736499	61736499	G	T	CHD7	c.3302G>T	NM_017780.3	NP_060250.2:p.(Cys1101Phe)	NC_000008.10:g.61736499G>T	(Likely) pathogenic	1 lab	51d2d6cd60
1:7309652 CAMTA1 A>G	1	7309652	7309652	A	G	CAMTA1	c.404A>G	NM_015215.3	NP_056030.1:p.(Glu135Gly)	NC_000001.10:g.7309652A>G	(Likely) pathogenic	1 lab	51d603459f
X:153587623 FLNA G>T	X	153587623	153587623	G	T	FLNA	c.4294C>A	NM_001110556.2	NP_001104026.1:p.(Gln1432Lys)	NC_000023.10:g.153587623G>T	(Likely) benign	1 lab	51d98f96d6
11:108129694 ATM T>G	11	108129694	108129694	T	G	ATM	c.2377-19T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129694T>G	(Likely) benign	1 lab	51db5fe149
2:234669410 UGT1A1 C>A	2	234669410	234669410	C	A	UGT1A1	c.477C>A	NM_000463.2	NP_000454.1:p.(Ile159=)	NC_000002.11:g.234669410C>A	(Likely) benign	1 lab	51dbde6ce2
12:32996156 PKP2 C>T	12	32996156	32996156	C	T	PKP2	c.1470G>A	NM_004572.3	NP_004563.2:p.(Arg490=)	NC_000012.11:g.32996156C>T	(Likely) benign	1 lab	51dcba4f93
12:98928345 TMPO A>G	12	98928345	98928345	A	G	TMPO	c.*225A>G	NM_003276.2	NP_003267.1:p.?	NC_000012.11:g.98928345A>G	VUS	1 lab	51dcd6b70e
12:6128597 VWF G>C	12	6128597	6128597	G	C	VWF	c.3987C>G	NM_000552.3	NP_000543.2:p.(Ile1329Met)	NC_000012.11:g.6128597G>C	VUS	1 lab	51de77d36f
11:121016799 TECTA C>T	11	121016799	121016799	C	T	TECTA				NC_000011.9:g.121016799C>T	VUS	1 lab	51e0df302a
20:52790194 CYP24A1 G>A	20	52790194	52790194	G	A	CYP24A1	c.-76C>T	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52790194G>A	(Likely) benign	1 lab	51e12cf421
17:1648690 SERPINF2 G>A	17	1648690	1648690	G	A	SERPINF2	c.165+1G>A	NM_000934.3	NP_000925.2:p.?	NC_000017.10:g.1648690G>A	(Likely) pathogenic	1 lab	51e334e115
3:37067109 MLH1 T>A	3	37067109	37067109	T	A	MLH1	c.1039-19T>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067109T>A	(Likely) benign	1 lab	51e35db9e6
4:140291529 NAA15 G>T	4	140291529	140291529	G	T	NAA15	c.1918G>T	NM_057175.5	NP_476516.1:p.(Glu640Ter)	NC_000004.11:g.140291529G>T	(Likely) pathogenic	1 lab	51e444dddc
18:6956695 LAMA1 CCTTT>C	18	6956695	6956701	CCTTT	C	LAMA1	c.8030_8033del	NM_005559.3	NP_005550.2:p.(Glu2677GlyfsTer64)	NC_000018.9:g.6956698_6956701del	(Likely) pathogenic	1 lab	51e5e30cec
5:176831178 F12 C>T	5	176831178	176831178	C	T	F12	c.1018+19G>A	NM_000505.3	NP_000496.2:p.?	NC_000005.9:g.176831178C>T	(Likely) benign	1 lab	51e6021f9d
3:142430734 PLS1 G>A	3	142430734	142430734	G	A	PLS1	c.1775G>A	NM_002670.3	NP_002661.2:p.(Arg592Gln)	NC_000003.11:g.142430734G>A	VUS	1 lab	51e71cfbb5
17:48266871 COL1A1 C>T	17	48266871	48266871	C	T	COL1A1	c.2696G>A	NM_000088.4	NP_000079.2:p.(Gly899Asp)	NC_000017.10:g.48266871C>T	(Likely) pathogenic	1 lab	51ecfcbc54
10:102782005 PDZD7 C>A	10	102782005	102782005	C	A	PDZD7	c.680G>T	NM_001195263.1	NP_001182192.1:p.(Arg227Leu)	NC_000010.10:g.102782005C>A	VUS	1 lab	51ee0df30d
2:48026478 MSH6 GA>G	2	48026478	48026481	GA	G	MSH6	c.1359del	NM_000179.2	NP_000170.1:p.(Gly454AlafsTer27)	NC_000002.11:g.48026481del	(Likely) pathogenic	1 lab	51efa24e20
14:102881063 TECPR2 C>T	14	102881063	102881063	C	T	TECPR2	c.571C>T	NM_014844.3	NP_055659.2:p.(Gln191Ter)	NC_000014.8:g.102881063C>T	(Likely) pathogenic	1 lab	51f01fdb62
1:201341341 TNNT2 C>T	1	201341341	201341341	C	T	TNNT2	c.42-58G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341341C>T	(Likely) benign	1 lab	51f08e64a6
19:38959720 RYR1 G>A	19	38959720	38959720	G	A	RYR1	c.3496G>A	NM_000540.2	NP_000531.2:p.(Glu1166Lys)	NC_000019.9:g.38959720G>A	VUS	1 lab	51f46b3862
8:17829941 PCM1 G>C	8	17829941	17829941	G	C	PCM1	c.3688G>C	NM_006197.4	NP_006188.4:p.(Val1230Leu)	NC_000008.10:g.17829941G>C	(Likely) benign	1 lab	07f36e6d53
11:45971755 PHF21A A>C	11	45971755	45971755	A	C	PHF21A	c.1147+2T>G	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45971755A>C	(Likely) pathogenic	1 lab	51fad09f71
14:36987146 NKX2-1 C>G	14	36987146	36987146	C	G	NKX2-1	c.543G>C	NM_001079668.3	NP_001073136.1:p.(Lys181Asn)	NC_000014.8:g.36987146C>G	VUS	1 lab	51fd74da53
17:41245526 BRCA1 A>C	17	41245526	41245526	A	C	BRCA1	c.2022T>G	NM_007294.4	NP_009225.1:p.(Pro674=)	NC_000017.10:g.41245526A>C	(Likely) benign	1 lab	520131a14c
12:6094250 VWF G>A	12	6094250	6094250	G	A	VWF	c.6937C>T	NM_000552.3	NP_000543.2:p.(Arg2313Cys)	NC_000012.11:g.6094250G>A	(Likely) benign	1 lab	52070b77f9
19:38951086 RYR1 A>T	19	38951086	38951086	A	T	RYR1	c.2432A>T	NM_000540.2	NP_000531.2:p.(His811Leu)	NC_000019.9:g.38951086A>T	VUS	1 lab	5207d20454
15:63356382 TPM1 A>T	15	63356382	63356382	A	T	TPM1	c.851+41A>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63356382A>T	(Likely) benign	1 lab	52083e84cf
14:23889485 MYH7 T>C	14	23889485	23889485	T	C	MYH7	c.3337-42A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23889485T>C	(Likely) benign	1 lab	520a5b7833
12:48380940 COL2A1 C>T	12	48380940	48380940	C	T	COL2A1	c.1286G>A	NM_001844.4	NP_001835.3:p.(Gly429Asp)	NC_000012.11:g.48380940C>T	(Likely) pathogenic	1 lab	520db0ee55
5:13841221 DNAH5 G>A	5	13841221	13841221	G	A	DNAH5	c.5503C>T	NM_001369.2	NP_001360.1:p.(Gln1835Ter)	NC_000005.9:g.13841221G>A	(Likely) pathogenic	1 lab	520f4e37b8
7:65429379 GUSB C>T	7	65429379	65429379	C	T	GUSB	c.1720G>A	NM_000181.4	NP_000172.2:p.(Asp574Asn)	NC_000007.13:g.65429379C>T	(Likely) pathogenic	1 lab	521093e61a
15:89861968 POLG G>A	15	89861968	89861968	G	A	POLG	c.3286C>T	NM_002693.2	NP_002684.1:p.(Arg1096Cys)	NC_000015.9:g.89861968G>A	VUS	1 lab	52124601f4
1:216371934 USH2A A>G	1	216371934	216371934	A	G	USH2A	c.3812-8T>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216371934A>G	(Likely) benign	1 lab	52128ce59b
12:52056871 SCN8A G>T	12	52056871	52056871	G	T	SCN8A	c.270G>T	NM_001330260.2	NP_001317189.1:p.(Thr90=)	NC_000012.11:g.52056871G>T	(Likely) benign	1 lab	5213ba8a74
X:103040091 PLP1 G>A	X	103040091	103040091	G	A	PLP1	c.5-420G>A	NM_000533.5	NP_000524.3:p.?	NC_000023.10:g.103040091G>A	VUS	1 lab	0b40b3fca6
17:41245464 BRCA1 T>TCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCA	17	41245464	41245526	T	TCGCTGTCATGTCTTTTACTTGTCTGTTCATTTGGCTTGTTACTCTTCTTGGCTCCAGTTGCA	BRCA1	c.2022_2083dup	NM_007294.4	NP_009225.1:p.(Asp695ValfsTer27)	NC_000017.10:g.41245465_41245526dup	(Likely) pathogenic	1 lab	521677010c
9:34648859 GALT G>A	9	34648859	34648859	G	A	GALT	c.788G>A	NM_000155.4	NP_000146.2:p.(Arg263Gln)	NC_000009.11:g.34648859G>A	VUS	1 lab	5219970874
2:32361662 SPAST C>T	2	32361662	32361662	C	T	SPAST	c.1276C>T	NM_014946.3	NP_055761.2:p.(Leu426Phe)	NC_000002.11:g.32361662C>T	(Likely) pathogenic	1 lab	521a7e19df
2:167133460 SCN9A G>T	2	167133460	167133460	G	T	SCN9A	c.2841+33C>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133460G>T	(Likely) benign	1 lab	521a94fa65
12:48379733 COL2A1 G>A	12	48379733	48379733	G	A	COL2A1	c.1543C>T	NM_001844.5	NP_001835.3:p.(Arg515Cys)	NC_000012.11:g.48379733G>A	(Likely) pathogenic	1 lab	521ae22040
6:138196946 TNFAIP3 T>G	6	138196946	138196946	T	G	TNFAIP3	c.608T>G	NM_001270508.2	NP_001257437.1:p.(Leu203Arg)	NC_000006.11:g.138196946T>G	(Likely) pathogenic	1 lab	521b653422
2:47656907 MSH2 A>T	2	47656907	47656907	A	T	MSH2	c.1103A>T	NM_000251.3	NP_000242.1:p.(Glu368Val)	NC_000002.11:g.47656907A>T	(Likely) benign	1 lab	52232712ba
13:32889672 BRCA2 C>A	13	32889672	32889672	C	A	BRCA2	c.-172C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889672C>A	(Likely) benign	1 lab	5223d79afd
X:48930091 PRAF2 C>T	X	48930091	48930091	C	T	PRAF2	c.397+1G>A	NM_007213.1	NP_009144.1:p.?	NC_000023.10:g.48930091C>T	(Likely) pathogenic	1 lab	5224957e37
3:47129662 SETD2 G>A	3	47129662	47129662	G	A	SETD2	c.5218C>T	NM_014159.7	NP_054878.5:p.(Arg1740Trp)	NC_000003.11:g.47129662G>A	(Likely) pathogenic	1 lab	5226762280
17:41247895 BRCA1 C>A	17	41247895	41247895	C	A	BRCA1	c.638G>T	NM_007294.4	NP_009225.1:p.(Arg213Met)	NC_000017.10:g.41247895C>A	(Likely) benign	1 lab	522c105429
11:61548522 MYRF G>A	11	61548522	61548522	G	A	MYRF	c.2572+5G>A	NM_001127392.2	NP_001120864.1:p.?	NC_000011.9:g.61548522G>A	(Likely) pathogenic	1 lab	522c6a3c55
18:43531241 EPG5 T>C	18	43531241	43531241	T	C	EPG5	c.1253-37A>G	NM_020964.2	NP_066015.2:p.?	NC_000018.9:g.43531241T>C	(Likely) benign	1 lab	522cca0409
16:31496174 SLC5A2 G>A	16	31496174	31496174	G	A	SLC5A2	c.233G>A	NM_003041.3	NP_003032.1:p.(Ser78Asn)	NC_000016.9:g.31496174G>A	VUS	1 lab	522eb63d78
7:6038908 PMS2 T>C	7	6038908	6038908	T	C	PMS2	c.538-2A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6038908T>C	(Likely) pathogenic	1 lab	523179d63d
15:43903435 STRC G>A	15	43903435	43903435	G	A	STRC	c.3217C>T	NM_153700.2	NP_714544.1:p.(Arg1073Ter)	NC_000015.9:g.43903435G>A	(Likely) pathogenic	1 lab	52319bfa3d
3:38936401 SCN11A T>A	3	38936401	38936401	T	A	SCN11A	c.2458A>T	NM_001349253.2	NP_001336182.1:p.(Asn820Tyr)	NC_000003.11:g.38936401T>A	(Likely) benign	1 lab	523277abd2
12:103237426 PAH T>A	12	103237426	103237426	T	A	PAH	c.1197A>T	NM_000277.3	NP_000268.1:p.(Val399=)	NC_000012.11:g.103237426T>A	(Likely) pathogenic	1 lab	07f8505a03
17:40491403 STAT3 T>A	17	40491403	40491403	T	A	STAT3	c.397A>T	NM_139276.2	NP_644805.1:p.(Thr133Ser)	NC_000017.10:g.40491403T>A	(Likely) benign	1 lab	07f8f35a08
3:190106119 CLDN16 A>G	3	190106119	190106119	A	G	CLDN16	c.211A>G	NM_006580.3	NP_006571.1:p.(Met71Val)	NC_000003.11:g.190106119A>G	(Likely) pathogenic	1 lab	5236324623
2:44055161 ABCG5 G>A	2	44055161	44055161	G	A	ABCG5	c.595C>T	NM_022436.3	NP_071881.1:p.(Arg199Cys)	NC_000002.11:g.44055161G>A	VUS	1 lab	1c34c0f8e8
1:152277084 FLG C>T	1	152277084	152277084	C	T	FLG	c.10278G>A	NM_002016.1	NP_002007.1:p.(Ala3426=)	NC_000001.10:g.152277084C>T	(Likely) benign	1 lab	52383b04e7
16:5132576 ALG1 T>G	16	5132576	5132576	T	G	ALG1	c.1089T>G	NM_019109.4	NP_061982.3:p.(Gly363=)	NC_000016.9:g.5132576T>G	(Likely) benign	1 lab	07fa6f7feb
X:22196435 PHEX C>T	X	22196435	22196435	C	T	PHEX	c.1528C>T	NM_000444.4	NP_000435.3:p.(Arg510Cys)	NC_000023.10:g.22196435C>T	VUS	1 lab	523a7adb56
11:64678098 ATG2A C>T	11	64678098	64678098	C	T	ATG2A	c.1697G>A	NM_015104.3	NP_055919.2:p.(Arg566His)	NC_000011.9:g.64678098C>T	(Likely) benign	1 lab	07fb91d66b
19:42408420 ARHGEF1 C>T	19	42408420	42408420	C	T	ARHGEF1	c.2091C>T	NM_199002.2	NP_945353.1:p.(Asp697=)	NC_000019.9:g.42408420C>T	(Likely) benign	1 lab	07fbe57491
X:49854824 CLCN5 C>G	X	49854824	49854824	C	G	CLCN5	c.1586C>G	NM_000084.4	NP_000075.1:p.(Thr529Ser)	NC_000023.10:g.49854824C>G	VUS	1 lab	523cc9a855
5:112043384 APC T>G	5	112043384	112043384	T	G	APC	c.-31T>G	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043384T>G	(Likely) benign	1 lab	523cd36222
11:118362545 KMT2A C>T	11	118362545	118362545	C	T	KMT2A	c.4906C>T	NM_001197104.2	NP_001184033.1:p.(Arg1636Ter)	NC_000011.9:g.118362545C>T	(Likely) pathogenic	1 lab	5240b2644c
14:65261403 SPTB C>A	14	65261403	65261403	C	A	SPTB	c.1645-68G>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65261403C>A	(Likely) benign	1 lab	07fc774f6c
7:107431504 SLC26A3 C>A	7	107431504	107431504	C	A	SLC26A3	c.559G>T	NM_000111.2	NP_000102.1:p.(Gly187Ter)	NC_000007.13:g.107431504C>A	(Likely) pathogenic	1 lab	524c108548
3:147128594 ZIC1 C>A	3	147128594	147128594	C	A	ZIC1	c.695C>A	NM_003412.3	NP_003403.2:p.(Pro232His)	NC_000003.11:g.147128594C>A	VUS	1 lab	524c4a5d44
1:78392300 NEXN A>T	1	78392300	78392300	A	T	NEXN	c.687+4A>T	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78392300A>T	VUS	1 lab	524e350bd3
17:61919827 SMARCD2 G>A	17	61919827	61919827	G	A	SMARCD2	c.208C>T	NM_001098426.2	NP_001091896.1:p.(Gln70Ter)	NC_000017.10:g.61919827G>A	(Likely) pathogenic	1 lab	524f3e991a
12:6103609 VWF AG>A	12	6103609	6103610	AG	A	VWF	c.6227del	NM_000552.3	NP_000543.2:p.(Thr2076IlefsTer23)	NC_000012.11:g.6103610del	(Likely) pathogenic	1 lab	524fada08d
10:43609076 RET GC>AT	10	43609076	43609077	GC	AT	RET	c.1832_1833delinsAT	NM_020975.6	NP_066124.1:p.(Cys611Tyr)	NC_000010.10:g.43609076_43609077delinsAT	(Likely) pathogenic	1 lab	524fecef3a
1:11087169 MASP2 C>A	1	11087169	11087169	C	A	MASP2	c.1834G>T	NM_006610.4	NP_006601.2:p.(Val612Leu)	NC_000001.10:g.11087169C>A	(Likely) benign	1 lab	07fd369ad2
6:32007993 TNXB G>C	6	32007993	32007993	G	C	TNXB				NC_000006.11:g.32007993G>C	(Likely) benign	1 lab	52542d49f2
5:112177593 APC G>A	5	112177593	112177593	G	A	APC	c.6302G>A	NM_000038.6	NP_000029.2:p.(Trp2101Ter)	NC_000005.9:g.112177593G>A	(Likely) pathogenic	1 lab	5254fedc1d
6:118880472 PLN T>C	6	118880472	118880472	T	C	PLN	c.*229T>C	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880472T>C	(Likely) benign	1 lab	52551145e1
10:127462833 MMP21 C>T	10	127462833	127462833	C	T	MMP21	c.264G>A	NM_147191.1	NP_671724.1:p.(Ala88=)	NC_000010.10:g.127462833C>T	(Likely) benign	1 lab	5257c6c835
20:44596207 ZNF335 C>G	20	44596207	44596207	C	G	ZNF335	c.881G>C	NM_022095.3	NP_071378.1:p.(Ser294Thr)	NC_000020.10:g.44596207C>G	(Likely) benign	1 lab	5259da3a38
16:23614782 PALB2 A>T	16	23614782	23614782	A	T	PALB2	c.3559T>A	NM_024675.3	NP_078951.2:p.(Ter1187LysextTer5)	NC_000016.9:g.23614782A>T	VUS	1 lab	5259dc3cad
X:20190864 RPS6KA3 C>T	X	20190864	20190864	C	T	RPS6KA3	c.1353G>A	NM_004586.2	NP_004577.1:p.(Lys451=)	NC_000023.10:g.20190864C>T	VUS	1 lab	525c964296
8:144297260 GPIHBP1 G>A	8	144297260	144297260	G	A	GPIHBP1	c.422G>A	NM_178172.6	NP_835466.2:p.(Trp141Ter)	NC_000008.10:g.144297260G>A	(Likely) pathogenic	1 lab	525d043db3
12:6128770 VWF A>G	12	6128770	6128770	A	G	VWF	c.3814T>C	NM_000552.3	NP_000543.2:p.(Cys1272Arg)	NC_000012.11:g.6128770A>G	(Likely) pathogenic	1 lab	526069865e
17:33433560 RAD51D T>G	17	33433560	33433560	T	G	RAD51D	c.481-60A>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33433560T>G	(Likely) benign	1 lab	526139ffdf
14:68220875 ZFYVE26 G>A	14	68220875	68220875	G	A	ZFYVE26	c.7041C>T	NM_015346.3	NP_056161.2:p.(Cys2347=)	NC_000014.8:g.68220875G>A	VUS	1 lab	5265e6d110
20:46256350 NCOA3 A>G	20	46256350	46256350	A	G	NCOA3	c.578A>G	NM_181659.3	NP_858045.1:p.(His193Arg)	NC_000020.10:g.46256350A>G	VUS	1 lab	5269192562
11:120998754 TECTA T>A	11	120998754	120998754	T	A	TECTA				NC_000011.9:g.120998754T>A	(Likely) pathogenic	1 lab	52697949fd
6:75829168 COL12A1 C>T	6	75829168	75829168	C	T	COL12A1	c.7108G>A	NM_004370.5	NP_004361.3:p.(Asp2370Asn)	NC_000006.11:g.75829168C>T	VUS	1 lab	526b2b1403
X:71822975 PHKA1 G>A	X	71822975	71822975	G	A	PHKA1	c.2911C>T	NM_002637.3	NP_002628.2:p.(Arg971Ter)	NC_000023.10:g.71822975G>A	(Likely) pathogenic	1 lab	5271467c8a
6:76542573 MYO6 C>T	6	76542573	76542573	C	T	MYO6	c.406C>T	NM_004999.3	NP_004990.3:p.(Arg136Ter)	NC_000006.11:g.76542573C>T	(Likely) pathogenic	1 lab	52734a38bd
12:52168121 SCN8A G>A	12	52168121	52168121	G	A	SCN8A	c.3794G>A	NM_001330260.2	NP_001317189.1:p.(Cys1265Tyr)	NC_000012.11:g.52168121G>A	VUS	1 lab	527be773c7
20:5283287 PROKR2 G>A	20	5283287	5283287	G	A	PROKR2	c.554C>T	NM_144773.2	NP_658986.1:p.(Ala185Val)	NC_000020.10:g.5283287G>A	VUS	1 lab	527d4c204c
8:61654142 CHD7 C>T	8	61654142	61654142	C	T	CHD7				NC_000008.10:g.61654142C>T	(Likely) pathogenic	1 lab	52868ded8c
15:67001053 SMAD6 T>C	15	67001053	67001053	T	C	SMAD6	c.818-2953T>C	NM_005585.4	NP_005576.3:p.?	NC_000015.9:g.67001053T>C	(Likely) benign	1 lab	5289756a61
16:2137925 TSC2 C>T	16	2137925	2137925	C	T	TSC2	c.5051C>T	NM_000548.4	NP_000539.2:p.(Ser1684Phe)	NC_000016.9:g.2137925C>T	VUS	1 lab	528b1bda48
18:21116652 NPC1 C>T	18	21116652	21116652	C	T	NPC1	c.3230G>A	NM_000271.5	NP_000262.2:p.(Arg1077Gln)	NC_000018.9:g.21116652C>T	VUS	1 lab	528d04e190
7:128481540 FLNC C>T	7	128481540	128481540	C	T	FLNC	c.2040C>T	NM_001458.4	NP_001449.3:p.(Thr680=)	NC_000007.13:g.128481540C>T	(Likely) benign	1 lab	5290f93a17
3:129249826 RHO G>A	3	129249826	129249826	G	A	RHO	c.469G>A	NM_000539.3	NP_000530.1:p.(Val157Ile)	NC_000003.11:g.129249826G>A	VUS	1 lab	52955a127d
2:166894165 SCN1A CT>C	2	166894165	166894174	CT	C	SCN1A	c.2946+120del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166894174del	(Likely) benign	1 lab	080324c239
15:25605532 UBE3A A>G	15	25605532	25605532	A	G	UBE3A	c.1760T>C	NM_000462.5	NP_000453.2:p.(Ile587Thr)	NC_000015.9:g.25605532A>G	(Likely) pathogenic	1 lab	52974e6a43
11:22281258 ANO5 A>T	11	22281258	22281258	A	T	ANO5	c.1601A>T	NM_213599.3	NP_998764.1:p.(Glu534Val)	NC_000011.9:g.22281258A>T	VUS	1 lab	5299927da8
13:32893173 BRCA2 G>C	13	32893173	32893173	G	C	BRCA2	c.68-41G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893173G>C	(Likely) benign	1 lab	529bf457c6
9:113538243 MUSK G>A	9	113538243	113538243	G	A	MUSK	c.1360G>A	NM_005592.3	NP_005583.1:p.(Asp454Asn)	NC_000009.11:g.113538243G>A	(Likely) pathogenic	1 lab	529c2d2a28
17:9143239 NTN1 G>T	17	9143239	9143239	G	T	NTN1	c.1769G>T	NM_004822.3	NP_004813.2:p.(Arg590Leu)	NC_000017.10:g.9143239G>T	VUS	1 lab	0eedf15c7e
3:10443827 ATP2B2 G>C	3	10443827	10443827	G	C	ATP2B2	c.603C>G	NM_001001331.4	NP_001001331.1:p.(Val201=)	NC_000003.11:g.10443827G>C	(Likely) benign	1 lab	529d2d4bf0
7:128477180 FLNC C>T	7	128477180	128477180	C	T	FLNC	c.602-34C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477180C>T	(Likely) benign	1 lab	529d5c61ea
10:122663599 WDR11 G>A	10	122663599	122663599	G	A	WDR11	c.2972G>A	NM_018117.12	NP_060587.8:p.(Arg991Gln)	NC_000010.10:g.122663599G>A	VUS	1 lab	529e59820c
14:99640654 BCL11B G>A	14	99640654	99640654	G	A	BCL11B	c.2519C>T	NM_138576.3	NP_612808.1:p.(Thr840Met)	NC_000014.8:g.99640654G>A	(Likely) pathogenic	1 lab	529f696725
4:39523008 UGDH A>G	4	39523008	39523008	A	G	UGDH	c.125T>C	NM_003359.4	NP_003350.1:p.(Ile42Thr)	NC_000004.11:g.39523008A>G	VUS	1 lab	52aa779b26
2:168101944 XIRP2 C>T	2	168101944	168101944	C	T	XIRP2	c.4042C>T	NM_152381.6	NP_689594.4:p.(Arg1348Ter)	NC_000002.11:g.168101944C>T	(Likely) pathogenic	1 lab	0807942e76
18:52928743 TCF4 G>A	18	52928743	52928743	G	A	TCF4				NC_000018.9:g.52928743G>A	(Likely) benign	1 lab	52ab1d3f60
8:97157653 GDF6 AAG>A	8	97157653	97157657	AAG	A	GDF6	c.504_505del	NM_001001557.2	NP_001001557.1:p.(Phe169SerfsTer269)	NC_000008.10:g.97157656_97157657del	VUS	1 lab	52b47e4044
6:65300662 EYS T>A	6	65300662	65300662	T	A	EYS				NC_000006.11:g.65300662T>A	(Likely) pathogenic	1 lab	52b5ca07dc
17:76113838 TMC6 C>A	17	76113838	76113838	C	A	TMC6	c.2021+45G>T	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76113838C>A	(Likely) benign	1 lab	52b6d33f2f
5:112175723 APC AG>A	5	112175723	112175726	AG	A	APC	c.4435del	NM_000038.6	NP_000029.2:p.(Val1479SerfsTer28)	NC_000005.9:g.112175726del	(Likely) pathogenic	1 lab	52b9121159
11:66620096 PC G>A	11	66620096	66620096	G	A	PC	c.1639C>T	NM_001040716.2	NP_001035806.1:p.(Arg547Ter)	NC_000011.9:g.66620096G>A	(Likely) pathogenic	1 lab	52b93206cb
1:103496800 COL11A1 C>T	1	103496800	103496800	C	T	COL11A1	c.652G>A	NM_001854.4	NP_001845.3:p.(Gly218Arg)	NC_000001.10:g.103496800C>T	VUS	1 lab	52bb395ac0
17:29654910 NF1 A>G	17	29654910	29654910	A	G	NF1	c.5609+53A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29654910A>G	(Likely) benign	1 lab	52bc33f5b2
6:32006058 CYP21A2 A>C	6	32006058	32006058	A	C	CYP21A2				NC_000006.11:g.32006058A>C	(Likely) benign	1 lab	52bce1aeb6
3:37042444 MLH1 A>T	3	37042444	37042444	A	T	MLH1	c.208-2A>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37042444A>T	(Likely) pathogenic	1 lab	52beeabd4e
5:70900248 MCCC2 C>T	5	70900248	70900248	C	T	MCCC2	c.577C>T	NM_022132.4	NP_071415.1:p.(Arg193Cys)	NC_000005.9:g.70900248C>T	(Likely) pathogenic	1 lab	52bf28f604
11:108202716 ATM A>C	11	108202716	108202716	A	C	ATM	c.7740A>C	NM_000051.3	NP_000042.3:p.(Arg2580Ser)	NC_000011.9:g.108202716A>C	VUS	1 lab	52c12cf221
13:110827572 COL4A1 C>T	13	110827572	110827572	C	T	COL4A1	c.3191G>A	NM_001845.5	NP_001836.3:p.(Gly1064Asp)	NC_000013.10:g.110827572C>T	(Likely) pathogenic	1 lab	52c3c0fe8d
1:11333945 UBIAD1 G>T	1	11333945	11333945	G	T	UBIAD1	c.357G>T	NM_013319.2	NP_037451.1:p.(Arg119Ser)	NC_000001.10:g.11333945G>T	VUS	1 lab	52c50de164
20:8698495 PLCB1 G>T	20	8698495	8698495	G	T	PLCB1	c.1513G>T	NM_015192.3	NP_056007.1:p.(Gly505Ter)	NC_000020.10:g.8698495G>T	(Likely) pathogenic	1 lab	52c635465f
21:37833512 CLDN14 C>T	21	37833512	37833512	C	T	CLDN14	c.482G>A	NM_144492.3	NP_652763.1:p.(Gly161Asp)	NC_000021.8:g.37833512C>T	VUS	1 lab	52c6753f34
3:37038164 MLH1 G>A	3	37038164	37038164	G	A	MLH1	c.171G>A	NM_000249.4	NP_000240.1:p.(Lys57=)	NC_000003.11:g.37038164G>A	(Likely) benign	1 lab	52c7056988
13:101182359 PCCA CT>C	13	101182359	101182360	CT	C	PCCA	c.2127del	NM_000282.4	NP_000273.2:p.(Val710CysfsTer43)	NC_000013.10:g.101182360del	(Likely) pathogenic	1 lab	52c7f32a85
10:8100422 GATA3 C>CT	10	8100422	8100423	C	CT	GATA3	c.397dup	NM_001002295.2	NP_001002295.1:p.(Tyr133LeufsTer171)	NC_000010.10:g.8100423dup	(Likely) pathogenic	1 lab	52cdd75a82
4:103533267 NFKB1 G>A	4	103533267	103533267	G	A	NFKB1				NC_000004.11:g.103533267G>A	(Likely) pathogenic	1 lab	52d010a435
20:1961204 PDYN C>T	20	1961204	1961204	C	T	PDYN	c.530G>A	NM_024411.5	NP_077722.1:p.(Gly177Asp)	NC_000020.10:g.1961204C>T	VUS	1 lab	52d0883f78
11:2592653 KCNQ1 T>C	11	2592653	2592653	T	C	KCNQ1	c.683+20T>C	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2592653T>C	(Likely) benign	1 lab	52d1af8b70
1:156107794 LMNA A>G	1	156107794	156107794	A	G	LMNA	c.1698+260A>G	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156107794A>G	(Likely) benign	1 lab	52d6523c4c
2:48030787 MSH6 G>A	2	48030787	48030787	G	A	MSH6	c.3401G>A	NM_000179.2	NP_000170.1:p.(Gly1134Glu)	NC_000002.11:g.48030787G>A	VUS	1 lab	52d6d4c126
19:8176945 FBN3 T>C	19	8176945	8176945	T	C	FBN3	c.3877A>G	NM_032447.5	NP_115823.3:p.(Ser1293Gly)	NC_000019.9:g.8176945T>C	(Likely) benign	1 lab	0f311dfd7a
15:23889283 MAGEL2 T>A	15	23889283	23889283	T	A	MAGEL2	c.3607A>T	NM_019066.4	NP_061939.3:p.(Lys1203Ter)	NC_000015.9:g.23889283T>A	(Likely) benign	1 lab	52de56e53a
3:38986982 SCN11A G>A	3	38986982	38986982	G	A	SCN11A	c.408C>T	NM_001349253.2	NP_001336182.1:p.(Ile136=)	NC_000003.11:g.38986982G>A	(Likely) benign	1 lab	52e21380cd
9:128117915 GAPVD1 C>T	9	128117915	128117915	C	T	GAPVD1	c.3812-8C>T	NM_001282679.2	NP_001269608.1:p.?	NC_000009.11:g.128117915C>T	(Likely) benign	1 lab	080c32ec97
20:3063781 AVP G>A	20	3063781	3063781	G	A	AVP	c.164C>T	NM_000490.4	NP_000481.2:p.(Pro55Leu)	NC_000020.10:g.3063781G>A	(Likely) pathogenic	1 lab	52e7522f09
2:47705639 MSH2 G>A	2	47705639	47705639	G	A	MSH2	c.2439G>A	NM_000251.3	NP_000242.1:p.(Met813Ile)	NC_000002.11:g.47705639G>A	(Likely) benign	1 lab	52e7ddb60d
7:140508673 BRAF C>G	7	140508673	140508673	C	G	BRAF	c.608+19G>C	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140508673C>G	(Likely) benign	1 lab	080c9a010d
9:35739115 GBA2 G>GC	9	35739115	35739116	G	GC	GBA2	c.1688-10_1688-9insG	NM_020944.2	NP_065995.1:p.?	NC_000009.11:g.35739115_35739116insC	(Likely) benign	1 lab	52e9121e71
20:61041520 GATA5 C>T	20	61041520	61041520	C	T	GATA5	c.787G>A	NM_080473.4	NP_536721.1:p.(Val263Met)	NC_000020.10:g.61041520C>T	(Likely) pathogenic	1 lab	52e9245b00
16:3063604 CLDN9 C>T	16	3063604	3063604	C	T	CLDN9	c.241C>T	NM_020982.4	NP_066192.1:p.(Arg81Cys)	NC_000016.9:g.3063604C>T	VUS	1 lab	52e9d43bf5
11:1459543 BRSK2 G>A	11	1459543	1459543	G	A	BRSK2	c.194G>A	NM_001256627.1	NP_001243556.1:p.(Arg65Gln)	NC_000011.9:g.1459543G>A	VUS	1 lab	52eb0090c2
4:110682768 CFI C>G	4	110682768	110682768	C	G	CFI	c.563G>C	NM_000204.5	NP_000195.3:p.(Gly188Ala)	NC_000004.11:g.110682768C>G	(Likely) pathogenic	1 lab	52ecac42fe
6:10557414 GCNT2 C>G	6	10557414	10557414	C	G	GCNT2	c.758C>G	NM_001491.2	NP_001482.1:p.(Pro253Arg)	NC_000006.11:g.10557414C>G	VUS	1 lab	52ee6a828c
5:92929460 NR2F1 G>A	5	92929460	92929460	G	A	NR2F1	c.1184G>A	NM_005654.6	NP_005645.1:p.(Gly395Asp)	NC_000005.9:g.92929460G>A	(Likely) pathogenic	1 lab	52eef0b79c
11:68201093 LRP5 C>A	11	68201093	68201093	C	A	LRP5	c.3787C>A	NM_002335.3	NP_002326.2:p.(Gln1263Lys)	NC_000011.9:g.68201093C>A	VUS	1 lab	52f45a6da2
8:82357112 PMP2 T>C	8	82357112	82357112	T	C	PMP2	c.186A>G	NM_002677.5	NP_002668.1:p.(Glu62=)	NC_000008.10:g.82357112T>C	(Likely) benign	1 lab	1d24f298e8
17:7918023 GUCY2D G>A	17	7918023	7918023	G	A	GUCY2D	c.2517G>A	NM_000180.3	NP_000171.1:p.(Thr839=)	NC_000017.10:g.7918023G>A	(Likely) benign	1 lab	52f852db4e
12:133208886 POLE C>T	12	133208886	133208886	C	T	POLE	c.6330+15G>A	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133208886C>T	(Likely) benign	1 lab	52f8e0f63d
11:119155715 CBL C>G	11	119155715	119155715	C	G	CBL	c.1468C>G	NM_005188.3	NP_005179.2:p.(Gln490Glu)	NC_000011.9:g.119155715C>G	(Likely) benign	1 lab	53008797d9
17:1580974 PRPF8 C>G	17	1580974	1580974	C	G	PRPF8	c.1869G>C	NM_006445.3	NP_006436.3:p.(Lys623Asn)	NC_000017.10:g.1580974C>G	(Likely) benign	1 lab	5302578d88
3:37050395 MLH1 A>G	3	37050395	37050395	A	G	MLH1	c.544A>G	NM_000249.3	NP_000240.1:p.(Arg182Gly)	NC_000003.11:g.37050395A>G	(Likely) pathogenic	1 lab	53068a5f06
16:78198192 WWOX T>C	16	78198192	78198192	T	C	WWOX	c.516+6T>C	NM_016373.3	NP_057457.1:p.?	NC_000016.9:g.78198192T>C	(Likely) benign	1 lab	53092a22b2
22:41918983 ACO2 G>T	22	41918983	41918983	G	T	ACO2	c.1288G>T	NM_001098.3	NP_001089.1:p.(Asp430Tyr)	NC_000022.10:g.41918983G>T	(Likely) pathogenic	1 lab	53099c851c
12:133198343 P2RX2 C>T	12	133198343	133198343	C	T	P2RX2	c.1201C>T	NM_170682.3	NP_733782.1:p.(Gln401Ter)	NC_000012.11:g.133198343C>T	(Likely) benign	1 lab	530ab439e1
11:102987406 DYNC2H1 T>A	11	102987406	102987406	T	A	DYNC2H1	c.729T>A	NM_001080463.1	NP_001073932.1:p.(Tyr243Ter)	NC_000011.9:g.102987406T>A	(Likely) pathogenic	1 lab	530cfa9b39
X:153678084 FAM50A G>C	X	153678084	153678084	G	C	FAM50A	c.780+1G>C	NM_004699.4	NP_004690.1:p.?	NC_000023.10:g.153678084G>C	VUS	1 lab	53187bc02f
11:46760756 F2 G>A	11	46760756	46760756	G	A	F2	c.1726-59G>A	NM_000506.3	NP_000497.1:p.?	NC_000011.9:g.46760756G>A	(Likely) benign	1 lab	531a43e395
11:108236206 ATM C>G	11	108236206	108236206	C	G	ATM	c.9142C>G	NM_000051.4	NP_000042.3:p.(Leu3048Val)	NC_000011.9:g.108236206C>G	VUS	1 lab	531ae6e87d
5:112170865 APC A>T	5	112170865	112170865	A	T	APC	c.1958+3A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112170865A>T	(Likely) pathogenic	1 lab	531de5f7c1
1:171083473 FMO3 A>C	1	171083473	171083473	A	C	FMO3	c.1154A>C	NM_001002294.3	NP_001002294.1:p.(Gln385Pro)	NC_000001.10:g.171083473A>C	VUS	1 lab	531e9488fe
16:31500525 SLC5A2 T>C	16	31500525	31500525	T	C	SLC5A2	c.1531T>C	NM_003041.3	NP_003032.1:p.(Cys511Arg)	NC_000016.9:g.31500525T>C	VUS	1 lab	531f79226f
17:75496342 SEPTIN9 T>C	17	75496342	75496342	T	C	SEPTIN9	c.*1602T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75496342T>C	(Likely) benign	1 lab	0f4c2e78d6
18:28650724 DSC2 A>G	18	28650724	28650724	A	G	DSC2	c.2218T>C	NM_024422.4	NP_077740.1:p.(Ser740Pro)	NC_000018.9:g.28650724A>G	VUS	1 lab	531fa77b39
22:24808663 SPECC1L C>G	22	24808663	24808663	C	G	SPECC1L	c.3252C>G	NM_015330.4	NP_056145.4:p.(Ile1084Met)	NC_000022.10:g.24808663C>G	(Likely) pathogenic	1 lab	5321a2aa0b
2:170336024 BBS5 G>C	2	170336024	170336024	G	C	BBS5	c.-40G>C	NM_152384.2	NP_689597.1:p.?	NC_000002.11:g.170336024G>C	(Likely) benign	1 lab	532204b9f3
1:43393428 SLC2A1 C>G	1	43393428	43393428	C	G	SLC2A1	c.1126G>C	NM_006516.2	NP_006507.2:p.(Val376Leu)	NC_000001.10:g.43393428C>G	(Likely) pathogenic	1 lab	532327fa07
12:53701436 AAAS C>T	12	53701436	53701436	C	T	AAAS	c.1478G>A	NM_015665.6	NP_056480.1:p.(Arg493His)	NC_000012.11:g.53701436C>T	VUS	1 lab	532612b316
2:48026079 MSH6 G>A	2	48026079	48026079	G	A	MSH6	c.957G>A	NM_000179.2	NP_000170.1:p.(Thr319=)	NC_000002.11:g.48026079G>A	(Likely) benign	1 lab	5328b8f216
13:78492249 EDNRB C>A	13	78492249	78492249	C	A	EDNRB	c.730G>T	NM_001201397.1	NP_001188326.1:p.(Asp244Tyr)	NC_000013.10:g.78492249C>A	(Likely) benign	1 lab	532a1c2c70
15:48521389 SLC12A1 G>A	15	48521389	48521389	G	A	SLC12A1	c.728G>A	NM_000338.3	NP_000329.2:p.(Gly243Glu)	NC_000015.9:g.48521389G>A	(Likely) pathogenic	1 lab	532cff1041
2:109379712 RANBP2 A>G	2	109379712	109379712	A	G	RANBP2	c.2717A>G	NM_006267.5	NP_006258.3:p.(Asn906Ser)	NC_000002.11:g.109379712A>G	(Likely) pathogenic	1 lab	5330a9c1ef
9:32541984 TOPORS G>A	9	32541984	32541984	G	A	TOPORS	c.2539C>T	NM_005802.4	NP_005793.2:p.(Arg847Ter)	NC_000009.11:g.32541984G>A	(Likely) pathogenic	1 lab	5334db2c11
X:107929351 COL4A5 G>A	X	107929351	107929351	G	A	COL4A5	c.4307G>A	NM_033380.2	NP_203699.1:p.(Gly1436Glu)	NC_000023.10:g.107929351G>A	(Likely) pathogenic	1 lab	5334f296bb
16:1510538 CLCN7 A>G	16	1510538	1510538	A	G	CLCN7	c.485-10T>C	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1510538A>G	(Likely) benign	1 lab	5339891397
X:41203603 DDX3X C>T	X	41203603	41203603	C	T	DDX3X	c.976C>T	NM_001356.4	NP_001347.3:p.(Arg326Cys)	NC_000023.10:g.41203603C>T	VUS	1 lab	533d362137
19:38985101 RYR1 C>T	19	38985101	38985101	C	T	RYR1	c.6384C>T	NM_000540.2	NP_000531.2:p.(Tyr2128=)	NC_000019.9:g.38985101C>T	(Likely) benign	1 lab	533da7efbc
2:179477538 TTN C>T	2	179477538	179477538	C	T	TTN	c.23291G>A	NM_133437.3	NP_597681.3:p.(Ser7764Asn)	NC_000002.11:g.179477538C>T	VUS	1 lab	533fdec72e
7:40102483 CDK13 G>A	7	40102483	40102483	G	A	CDK13	c.2659G>A	NM_003718.4	NP_003709.3:p.(Gly887Arg)	NC_000007.13:g.40102483G>A	(Likely) pathogenic	1 lab	5341f7f116
16:31104720 VKORC1 C>T	16	31104720	31104720	C	T	VKORC1				NC_000016.9:g.31104720C>T	VUS	1 lab	53445bbc89
3:121975938 CASR C>T	3	121975938	121975938	C	T	CASR	c.196C>T	NM_000388.4	NP_000379.3:p.(Arg66Cys)	NC_000003.11:g.121975938C>T	(Likely) pathogenic	1 lab	5346dd93dc
3:123452810 MYLK T>C	3	123452810	123452810	T	C	MYLK	c.1033A>G	NM_053025.3	NP_444253.3:p.(Ile345Val)	NC_000003.11:g.123452810T>C	(Likely) benign	1 lab	5348d51878
13:101881844 NALCN A>G	13	101881844	101881844	A	G	NALCN	c.1526T>C	NM_052867.4	NP_443099.1:p.(Leu509Ser)	NC_000013.10:g.101881844A>G	(Likely) pathogenic	1 lab	534af9fcb0
19:7599060 PNPLA6 T>C	19	7599060	7599060	T	C	PNPLA6	c.-261T>C	NM_006702.4	NP_006693.3:p.?	NC_000019.9:g.7599060T>C	(Likely) benign	1 lab	534cfa54e0
11:61723214 BEST1 C>T	11	61723214	61723214	C	T	BEST1	c.272C>T	NM_004183.4	NP_004174.1:p.(Thr91Ile)	NC_000011.9:g.61723214C>T	(Likely) pathogenic	1 lab	5351ffdd52
11:108155000 ATM T>C	11	108155000	108155000	T	C	ATM	c.3793T>C	NM_000051.3	NP_000042.3:p.(Phe1265Leu)	NC_000011.9:g.108155000T>C	VUS	1 lab	5355a864f1
17:33446509 RAD51D G>T	17	33446509	33446509	G	T	RAD51D	c.82+42C>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446509G>T	(Likely) benign	1 lab	5355b6d090
6:76566876 MYO6 G>T	6	76566876	76566876	G	T	MYO6	c.1286G>T	NM_004999.3	NP_004990.3:p.(Ser429Ile)	NC_000006.11:g.76566876G>T	VUS	1 lab	53582a873e
3:48602407 COL7A1 C>G	3	48602407	48602407	C	G	COL7A1	c.8627G>C	NM_000094.3	NP_000085.1:p.(Cys2876Ser)	NC_000003.11:g.48602407C>G	(Likely) pathogenic	1 lab	53593f3352
2:228149107 COL4A3 A>G	2	228149107	228149107	A	G	COL4A3	c.2881+46A>G	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228149107A>G	(Likely) benign	1 lab	5359f9fd84
11:76885869 MYO7A G>A	11	76885869	76885869	G	A	MYO7A	c.2003G>A	NM_000260.3	NP_000251.3:p.(Arg668His)	NC_000011.9:g.76885869G>A	(Likely) pathogenic	1 lab	535daa6495
6:108214686 SEC63 A>G	6	108214686	108214686	A	G	SEC63	c.1674T>C	NM_007214.5	NP_009145.1:p.(Asn558=)	NC_000006.11:g.108214686A>G	(Likely) benign	1 lab	08109ad1e3
4:4861958 MSX1 C>A	4	4861958	4861958	C	A	MSX1	c.332C>A	NM_002448.3	NP_002439.2:p.(Ser111Ter)	NC_000004.11:g.4861958C>A	(Likely) pathogenic	1 lab	5360c7d254
2:105472989 POU3F3 G>C	2	105472989	105472989	G	C	POU3F3	c.1021G>C	NM_006236.3	NP_006227.1:p.(Ala341Pro)	NC_000002.11:g.105472989G>C	VUS	1 lab	53614e31c0
7:128496901 FLNC T>C	7	128496901	128496901	T	C	FLNC	c.7487T>C	NM_001458.5	NP_001449.3:p.(Val2496Ala)	NC_000007.13:g.128496901T>C	VUS	1 lab	53643c6a4f
17:8140791 CTC1 G>A	17	8140791	8140791	G	A	CTC1	c.694C>T	NM_025099.5	NP_079375.3:p.(Arg232Ter)	NC_000017.10:g.8140791G>A	(Likely) pathogenic	1 lab	536ab5fd03
7:81765975 CACNA2D1 G>A	7	81765975	81765975	G	A	CACNA2D1	c.372C>T	NM_000722.3	NP_000713.2:p.(Tyr124=)	NC_000007.13:g.81765975G>A	(Likely) benign	1 lab	536aee3b8a
19:35530056 SCN1B A>G	19	35530056	35530056	A	G	SCN1B	c.484A>G	NM_001037.5	NP_001028.1:p.(Met162Val)	NC_000019.9:g.35530056A>G	VUS	1 lab	536c1743e1
2:32370074 SPAST G>A	2	32370074	32370074	G	A	SPAST	c.1685G>A	NM_014946.3	NP_055761.2:p.(Arg562Gln)	NC_000002.11:g.32370074G>A	(Likely) pathogenic	1 lab	5370bf2b35
X:585125 SHOX T>G	X	585125	585125	T	G	SHOX	c.-645T>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585125T>G	(Likely) benign	1 lab	537144d7ef
20:34025983 GDF5 A>G	20	34025983	34025983	A	G	GDF5	c.-275T>C	NM_000557.2	NP_000548.1:p.?	NC_000020.10:g.34025983A>G	(Likely) benign	1 lab	537254ef5f
16:56920314 SLC12A3 G>T	16	56920314	56920314	G	T	SLC12A3	c.1964G>T	NM_000339.2	NP_000330.2:p.(Arg655Leu)	NC_000016.9:g.56920314G>T	(Likely) pathogenic	1 lab	53733421f8
9:98239117 PTCH1 C>T	9	98239117	98239117	C	T	PTCH1	c.1526G>A	NM_000264.3	NP_000255.2:p.(Gly509Asp)	NC_000009.11:g.98239117C>T	(Likely) pathogenic	1 lab	5373e5c868
X:85213859 CHM ACAGTAC>A	X	85213859	85213866	ACAGTAC	A	CHM	c.819+1_819+6del	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85213861_85213866del	(Likely) pathogenic	1 lab	53758ebffb
19:11218121 LDLR A>C	19	11218121	11218121	A	C	LDLR	c.871A>C	NM_000527.5	NP_000518.1:p.(Thr291Pro)	NC_000019.9:g.11218121A>C	VUS	1 lab	0f7c7141e8
2:48026992 MSH6 G>A	2	48026992	48026992	G	A	MSH6	c.1870G>A	NM_000179.3	NP_000170.1:p.(Gly624Ser)	NC_000002.11:g.48026992G>A	(Likely) benign	1 lab	5378f0dd05
X:41420809 CASK T>TAA	X	41420809	41420811	T	TAA	CASK	c.1668+2_1668+3insTT	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41420810_41420811insAA	(Likely) pathogenic	1 lab	537d599f86
1:94473173 ABCA4 A>G	1	94473173	94473173	A	G	ABCA4	c.6005+17T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94473173A>G	(Likely) benign	1 lab	537df9a85f
11:76919517 MYO7A C>T	11	76919517	76919517	C	T	MYO7A	c.5899C>T	NM_000260.3	NP_000251.3:p.(Arg1967Ter)	NC_000011.9:g.76919517C>T	(Likely) pathogenic	1 lab	537ff69254
1:196744026 CFHR3 C>T	1	196744026	196744026	C	T	CFHR3	c.10C>T	NM_021023.6	NP_066303.2:p.(Leu4=)	NC_000001.10:g.196744026C>T	(Likely) benign	1 lab	5381e75c8a
1:228462037 OBSCN G>A	1	228462037	228462037	G	A	OBSCN	c.6700G>A	NM_001271223.2	NP_001258152.2:p.(Glu2234Lys)	NC_000001.10:g.228462037G>A	(Likely) benign	1 lab	538355498e
5:176943721 DDX41 C>A	5	176943721	176943721	C	A	DDX41	c.138+5G>T	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176943721C>A	VUS	1 lab	538469a1c3
3:77526582 ROBO2 C>T	3	77526582	77526582	C	T	ROBO2	c.406C>T	NM_001395656.1	NP_001382585.1:p.(Arg136Ter)	NC_000003.11:g.77526582C>T	(Likely) pathogenic	1 lab	538547820a
19:41928158 BCKDHA G>A	19	41928158	41928158	G	A	BCKDHA	c.736G>A	NM_000709.3	NP_000700.1:p.(Ala246Thr)	NC_000019.9:g.41928158G>A	VUS	1 lab	53896e6d14
14:31349866 COCH G>A	14	31349866	31349866	G	A	COCH	c.555G>A	NM_004086.3	NP_004077.1:p.(Lys185=)	NC_000014.8:g.31349866G>A	(Likely) benign	1 lab	538be36dd6
2:32353552 SPAST A>G	2	32353552	32353552	A	G	SPAST	c.1245+4A>G	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32353552A>G	(Likely) pathogenic	1 lab	538f192ae6
2:105472998 POU3F3 G>C	2	105472998	105472998	G	C	POU3F3	c.1030G>C	NM_006236.3	NP_006227.1:p.(Gly344Arg)	NC_000002.11:g.105472998G>C	(Likely) pathogenic	1 lab	5395a56369
6:43015891 CUL7 G>A	6	43015891	43015891	G	A	CUL7				NC_000006.11:g.43015891G>A	(Likely) pathogenic	1 lab	539647c2fa
7:44664124 OGDH T>C	7	44664124	44664124	T	C	OGDH	c.182T>C	NM_002541.4	NP_002532.2:p.(Met61Thr)	NC_000007.13:g.44664124T>C	VUS	1 lab	0bc684db1b
3:38926774 SCN11A C>T	3	38926774	38926774	C	T	SCN11A	c.3064+5G>A	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38926774C>T	(Likely) benign	1 lab	539670a608
12:52188373 SCN8A C>T	12	52188373	52188373	C	T	SCN8A	c.4743C>T	NM_014191.4	NP_055006.1:p.(Phe1581=)	NC_000012.11:g.52188373C>T	(Likely) benign	1 lab	539971f40f
19:6678474 C3 G>A	19	6678474	6678474	G	A	C3	c.4631-8C>T	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6678474G>A	(Likely) benign	1 lab	539ed881f1
14:105156001 INF2 G>A	14	105156001	105156001	G	A	INF2	c.-85G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105156001G>A	(Likely) benign	1 lab	539ef8a28b
3:182763268 MCCC1 CTTG>C	3	182763268	182763272	CTTG	C	MCCC1	c.1013_1015del	NM_020166.4	NP_064551.3:p.(Thr338del)	NC_000003.11:g.182763270_182763272del	(Likely) pathogenic	1 lab	53a37f58b2
16:15811173 MYH11 C>T	16	15811173	15811173	C	T	MYH11	c.5349G>A	NM_001040113.1	NP_001035202.1:p.(Glu1783=)	NC_000016.9:g.15811173C>T	(Likely) benign	1 lab	53a3dc10dd
1:120462932 NOTCH2 C>T	1	120462932	120462932	C	T	NOTCH2				NC_000001.10:g.120462932C>T	(Likely) benign	1 lab	53a683ab16
1:172634807 FASLG A>G	1	172634807	172634807	A	G	FASLG	c.497A>G	NM_000639.3	NP_000630.1:p.(Tyr166Cys)	NC_000001.10:g.172634807A>G	(Likely) pathogenic	1 lab	53a9dfae11
3:179291189 ACTL6A G>T	3	179291189	179291189	G	T	ACTL6A	c.310G>T	NM_004301.5	NP_004292.1:p.(Asp104Tyr)	NC_000003.11:g.179291189G>T	VUS	1 lab	53a9fa27b6
8:38884270 ADAM9 C>T	8	38884270	38884270	C	T	ADAM9	c.1071C>T	NM_003816.2	NP_003807.1:p.(His357=)	NC_000008.10:g.38884270C>T	(Likely) benign	1 lab	53abac6bd1
1:196695580 CFH A>G	1	196695580	196695580	A	G	CFH	c.1874-20A>G	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196695580A>G	(Likely) benign	1 lab	53acf444d1
2:167168047 SCN9A G>C	2	167168047	167168047	G	C	SCN9A	c.220C>G	NM_001365536.1	NP_001352465.1:p.(Pro74Ala)	NC_000002.11:g.167168047G>C	VUS	1 lab	53ad97019e
2:71187084 ATP6V1B1 C>A	2	71187084	71187084	C	A	ATP6V1B1	c.461C>A	NM_001692.3	NP_001683.2:p.(Pro154Gln)	NC_000002.11:g.71187084C>A	VUS	1 lab	53b355e243
20:57599309 TUBB1 A>G	20	57599309	57599309	A	G	TUBB1	c.827A>G	NM_030773.3	NP_110400.1:p.(Gln276Arg)	NC_000020.10:g.57599309A>G	(Likely) benign	1 lab	0813685560
1:196714961 CFH T>C	1	196714961	196714961	T	C	CFH	c.3325T>C	NM_000186.3	NP_000177.2:p.(Cys1109Arg)	NC_000001.10:g.196714961T>C	VUS	1 lab	53bc062625
1:36935269 CSF3R C>T	1	36935269	36935269	C	T	CSF3R	c.1458G>A	NM_000760.4	NP_000751.1:p.(Thr486=)	NC_000001.10:g.36935269C>T	(Likely) benign	1 lab	08155c975f
2:44059226 ABCG5 C>A	2	44059226	44059226	C	A	ABCG5	c.266-4G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059226C>A	VUS	1 lab	0f90ffff52
5:112175416 APC C>CT	5	112175416	112175417	C	CT	APC	c.4126dup	NM_000038.6	NP_000029.2:p.(Tyr1376LeufsTer10)	NC_000005.9:g.112175417dup	(Likely) pathogenic	1 lab	53bddbb308
6:121768033 GJA1 G>A	6	121768033	121768033	G	A	GJA1				NC_000006.11:g.121768033G>A	(Likely) pathogenic	1 lab	53c2dd7934
2:167322060 SCN7A A>G	2	167322060	167322060	A	G	SCN7A	c.872-19T>C	NM_002976.3	NP_002967.2:p.?	NC_000002.11:g.167322060A>G	(Likely) benign	1 lab	53c36911c0
2:179544684 TTN A>ATCT	2	179544684	179544685	A	ATCT	TTN	c.33516_33517insAGA	NM_001267550.2	NP_001254479.2:p.(Glu11172_Tyr11173insArg)	NC_000002.11:g.179544684_179544685insTCT	VUS	1 lab	53c3822691
22:31011330 TCN2 G>A	22	31011330	31011330	G	A	TCN2				NC_000022.10:g.31011330G>A	(Likely) benign	1 lab	081c5d52b4
21:34922589 SON C>G	21	34922589	34922589	C	G	SON	c.1052C>G	NM_138927.4	NP_620305.3:p.(Ala351Gly)	NC_000021.8:g.34922589C>G	VUS	1 lab	0c36a4ad88
6:133767773 EYA4 T>A	6	133767773	133767773	T	A	EYA4	c.89T>A	NM_004100.5	NP_004091.3:p.(Met30Lys)	NC_000006.11:g.133767773T>A	VUS	1 lab	53c8c067bd
14:64520064 SYNE2 T>G	14	64520064	64520064	T	G	SYNE2	c.9433T>G	NM_182914.2	NP_878918.2:p.(Ser3145Ala)	NC_000014.8:g.64520064T>G	(Likely) benign	1 lab	53c9c0cac4
2:47656898 MSH2 C>T	2	47656898	47656898	C	T	MSH2	c.1094C>T	NM_000251.3	NP_000242.1:p.(Ala365Val)	NC_000002.11:g.47656898C>T	(Likely) benign	1 lab	53caa8beec
16:5134774 ALG1 T>A	16	5134774	5134774	T	A	ALG1	c.1287T>A	NM_019109.4	NP_061982.3:p.(Asp429Glu)	NC_000016.9:g.5134774T>A	(Likely) benign	1 lab	53cbcb8aa5
2:179536988 TTN G>T	2	179536988	179536988	G	T	TTN	c.34937C>A	NM_001267550.2	NP_001254479.2:p.(Thr11646Asn)	NC_000002.11:g.179536988G>T	(Likely) benign	1 lab	53cbcd273c
10:8006588 TAF3 AC>A	10	8006588	8006589	AC	A	TAF3	c.1116del	NM_031923.4	NP_114129.1:p.(Asn372LysfsTer11)	NC_000010.10:g.8006589del	VUS	1 lab	53ce83fc42
16:23619228 PALB2 C>G	16	23619228	23619228	C	G	PALB2	c.3307G>C	NM_024675.3	NP_078951.2:p.(Val1103Leu)	NC_000016.9:g.23619228C>G	(Likely) benign	1 lab	53cf7171cd
X:47028784 RBM10 C>T	X	47028784	47028784	C	T	RBM10	c.283C>T	NM_001204468.1	NP_001191397.1:p.(Arg95Cys)	NC_000023.10:g.47028784C>T	VUS	1 lab	53d401f775
11:118047122 SCN2B G>A	11	118047122	118047122	G	A	SCN2B	c.25C>T	NM_004588.4	NP_004579.1:p.(Arg9Cys)	NC_000011.9:g.118047122G>A	VUS	1 lab	53d571f3f9
2:44078854 ABCG8 C>T	2	44078854	44078854	C	T	ABCG8	c.454C>T	NM_022437.3	NP_071882.1:p.(Arg152Cys)	NC_000002.11:g.44078854C>T	VUS	1 lab	10c373e1d9
X:117677487 DOCK11 A>G	X	117677487	117677487	A	G	DOCK11	c.323A>G	NM_144658.4	NP_653259.3:p.(Tyr108Cys)	NC_000023.10:g.117677487A>G	(Likely) pathogenic	1 lab	53de18b1c5
22:38122371 TRIOBP TA>T	22	38122371	38122372	TA	T	TRIOBP	c.3809del	NM_001039141.2	NP_001034230.1:p.(Tyr1270SerfsTer86)	NC_000022.10:g.38122372del	(Likely) pathogenic	1 lab	53e04b934a
X:134920653 MISSING C>Alt too long to show for this DUP	X	134920653	135235654	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.134920654_135235654dup	VUS	1 lab	1d51e16405
17:4925877 KIF1C G>A	17	4925877	4925877	G	A	KIF1C	c.2501G>A	NM_006612.5	NP_006603.2:p.(Arg834Gln)	NC_000017.10:g.4925877G>A	VUS	1 lab	53e32f3f8a
15:99467760 IGF1R C>T	15	99467760	99467760	C	T	IGF1R	c.2629C>T	NM_000875.3	NP_000866.1:p.(Arg877Ter)	NC_000015.9:g.99467760C>T	(Likely) pathogenic	1 lab	53e601a7fb
3:130711840 ATP2C1 A>T	3	130711840	130711840	A	T	ATP2C1	c.1885A>T	NM_001378687.1	NP_001365616.1:p.(Ile629Phe)	NC_000003.11:g.130711840A>T	VUS	1 lab	53eec34dec
16:3706715 DNASE1 C>T	16	3706715	3706715	C	T	DNASE1	c.397C>T	NM_001351825.1	NP_001338754.1:p.(Arg133Ter)	NC_000016.9:g.3706715C>T	VUS	1 lab	53f0804130
5:112175760 APC AT>A	5	112175760	112175764	AT	A	APC	c.4473del	NM_000038.6	NP_000029.2:p.(Phe1491LeufsTer16)	NC_000005.9:g.112175764del	(Likely) pathogenic	1 lab	53f2a7984e
11:76892486 MYO7A G>A	11	76892486	76892486	G	A	MYO7A	c.2755G>A	NM_000260.4	NP_000251.3:p.(Ala919Thr)	NC_000011.9:g.76892486G>A	VUS	1 lab	53f3143dc0
X:76856021 MISSING T>C	X	76856021	76856021	T	C	MISSING				NC_000023.10:g.76856021T>C	(Likely) benign	1 lab	53f474f1c3
21:37833300 CLDN14 C>T	21	37833300	37833300	C	T	CLDN14	c.694G>A	NM_144492.2	NP_652763.1:p.(Gly232Arg)	NC_000021.8:g.37833300C>T	(Likely) pathogenic	1 lab	53f718cd4f
17:41249292 BRCA1 C>T	17	41249292	41249292	C	T	BRCA1	c.562G>A	NM_007294.3	NP_009225.1:p.(Glu188Lys)	NC_000017.10:g.41249292C>T	(Likely) benign	1 lab	53f7fc8335
12:49432708 KMT2D G>T	12	49432708	49432708	G	T	KMT2D	c.8431C>A	NM_003482.4	NP_003473.3:p.(Gln2811Lys)	NC_000012.11:g.49432708G>T	VUS	1 lab	53faac201c
7:150655643 KCNH2 G>A	7	150655643	150655643	G	A	KCNH2	c.473-53C>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150655643G>A	(Likely) benign	1 lab	53fc721edf
9:98239106 PTCH1 C>A	9	98239106	98239106	C	A	PTCH1	c.1537G>T	NM_000264.3	NP_000255.2:p.(Asp513Tyr)	NC_000009.11:g.98239106C>A	(Likely) pathogenic	1 lab	53fca91a9b
16:2156613 PKD1 G>A	16	2156613	2156613	G	A	PKD1	c.7275C>T	NM_001009944.2	NP_001009944.2:p.(Gly2425=)	NC_000016.9:g.2156613G>A	(Likely) benign	1 lab	0826ca0894
1:3313035 PRDM16 C>T	1	3313035	3313035	C	T	PRDM16	c.574-20C>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3313035C>T	(Likely) benign	1 lab	54047c1bcf
5:145718765 POU4F3 C>T	5	145718765	145718765	C	T	POU4F3				NC_000005.9:g.145718765C>T	(Likely) benign	1 lab	5404ca6efd
5:1057738 SLC12A7 G>A	5	1057738	1057738	G	A	SLC12A7	c.2874C>T	NM_006598.2	NP_006589.2:p.(Thr958=)	NC_000005.9:g.1057738G>A	(Likely) benign	1 lab	5406904f9f
12:106848490 POLR3B G>A	12	106848490	106848490	G	A	POLR3B	c.2293+1G>A	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106848490G>A	(Likely) pathogenic	1 lab	08275d0f14
5:140903734 DIAPH1 G>A	5	140903734	140903734	G	A	DIAPH1	c.3637C>T	NM_005219.4	NP_005210.3:p.(Arg1213Ter)	NC_000005.9:g.140903734G>A	(Likely) pathogenic	1 lab	540b28f969
2:179391840 TTN T>C	2	179391840	179391840	T	C	TTN	c.107875A>G	NM_001267550.2	NP_001254479.2:p.(Met35959Val)	NC_000002.11:g.179391840T>C	VUS	1 lab	540b2dc46e
19:45860636 ERCC2 C>T	19	45860636	45860636	C	T	ERCC2	c.1378-7G>A	NM_000400.3	NP_000391.1:p.?	NC_000019.9:g.45860636C>T	(Likely) benign	1 lab	08275e6b1e
9:139324201 INPP5E G>A	9	139324201	139324201	G	A	INPP5E	c.1861C>T	NM_019892.4	NP_063945.2:p.(Arg621Trp)	NC_000009.11:g.139324201G>A	VUS	1 lab	540e399bcd
9:98270521 PTCH1 AC>A	9	98270521	98270522	AC	A	PTCH1	c.122del	NM_000264.5	NP_000255.2:p.(Arg41LeufsTer39)	NC_000009.11:g.98270522del	(Likely) pathogenic	1 lab	54111fa85d
6:7585953 DSP T>C	6	7585953	7585953	T	C	DSP	c.8458T>C	NM_004415.2	NP_004406.2:p.(Ser2820Pro)	NC_000006.11:g.7585953T>C	VUS	1 lab	541324899b
12:112670809 HECTD4 T>C	12	112670809	112670809	T	C	HECTD4	c.5996A>G	NM_001388303.1	NP_001375232.1:p.(Lys1999Arg)	NC_000012.11:g.112670809T>C	VUS	1 lab	541447f73d
1:155874530 RIT1 C>T	1	155874530	155874530	C	T	RIT1	c.280G>A	NM_001256821.1	NP_001243750.1:p.(Ala94Thr)	NC_000001.10:g.155874530C>T	(Likely) pathogenic	1 lab	54177f212d
18:72998220 TSHZ1 G>A	18	72998220	72998220	G	A	TSHZ1				NC_000018.9:g.72998220G>A	(Likely) pathogenic	1 lab	5419e11241
2:179424782 TTN A>AT	2	179424782	179424788	A	AT	TTN	c.78372dup	NM_133378.4	NP_596869.4:p.(Ser26125IlefsTer2)	NC_000002.11:g.179424788dup	(Likely) pathogenic	1 lab	541a09a47f
2:47708011 MSH2 G>T	2	47708011	47708011	G	T	MSH2	c.2634+1G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47708011G>T	(Likely) pathogenic	1 lab	541f03e3a1
X:53253939 KDM5C T>C	X	53253939	53253939	T	C	KDM5C	c.133A>G	NM_004187.5	NP_004178.2:p.(Lys45Glu)	NC_000023.10:g.53253939T>C	VUS	1 lab	5420156420
13:78477418 EDNRB A>G	13	78477418	78477418	A	G	EDNRB	c.944T>C	NM_001201397.1	NP_001188326.1:p.(Ile315Thr)	NC_000013.10:g.78477418A>G	VUS	1 lab	54221d2092
X:100652999 GLA C>T	X	100652999	100652999	C	T	GLA	c.1088G>A	NM_000169.2	NP_000160.1:p.(Arg363His)	NC_000023.10:g.100652999C>T	(Likely) pathogenic	1 lab	54256b947f
16:57282556 ARL2BP G>A	16	57282556	57282556	G	A	ARL2BP	c.207+1G>A	NM_012106.3	NP_036238.1:p.?	NC_000016.9:g.57282556G>A	(Likely) pathogenic	1 lab	542727b2a7
18:33767656 MOCOS G>GGGCA	18	33767656	33767663	G	GGGCA	MOCOS	c.142+16_142+19dup	NM_017947.4	NP_060417.4:p.?	NC_000018.9:g.33767660_33767663dup	(Likely) benign	1 lab	082a7cfea8
9:108377566 FKTN T>G	9	108377566	108377566	T	G	FKTN	c.788T>G	NM_001351496.1	NP_001338425.1:p.(Leu263Arg)	NC_000009.11:g.108377566T>G	(Likely) benign	1 lab	542ab150b2
7:31918637 PDE1C C>T	7	31918637	31918637	C	T	PDE1C	c.577G>A	NM_001191058.4	NP_001177987.2:p.(Ala193Thr)	NC_000007.13:g.31918637C>T	VUS	1 lab	542b340750
14:95557629 DICER1 T>C	14	95557629	95557629	T	C	DICER1	c.5438A>G	NM_177438.3	NP_803187.1:p.(Glu1813Gly)	NC_000014.8:g.95557629T>C	(Likely) pathogenic	1 lab	542ba2e3bc
6:36168869 BRPF3 G>GC	6	36168869	36168870	G	GC	BRPF3	c.771dup	NM_015695.3	NP_056510.2:p.(Cys258LeufsTer18)	NC_000006.11:g.36168870dup	VUS	1 lab	542d8c0d22
4:170345786 NEK1 G>A	4	170345786	170345786	G	A	NEK1	c.3056C>T	NM_012224.3	NP_036356.1:p.(Ser1019Leu)	NC_000004.11:g.170345786G>A	VUS	1 lab	543430bb9c
15:93489248 CHD2 A>T	15	93489248	93489248	A	T	CHD2	c.1199-20A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93489248A>T	(Likely) benign	1 lab	1f323b1200
X:119582864 LAMP2 C>T	X	119582864	119582864	C	T	LAMP2	c.517G>A	NM_013995.2	NP_054701.1:p.(Val173Ile)	NC_000023.10:g.119582864C>T	(Likely) benign	1 lab	5437f3fec1
12:8800755 MFAP5 G>A	12	8800755	8800755	G	A	MFAP5	c.454C>T	NM_003480.3	NP_003471.1:p.(Arg152Cys)	NC_000012.11:g.8800755G>A	VUS	1 lab	54395176ab
2:48027560 MSH6 AG>A	2	48027560	48027561	AG	A	MSH6	c.2439del	NM_000179.3	NP_000170.1:p.(Lys814SerfsTer19)	NC_000002.11:g.48027561del	(Likely) pathogenic	1 lab	54430a2b1b
2:168105377 XIRP2 T>A	2	168105377	168105377	T	A	XIRP2	c.7475T>A	NM_152381.6	NP_689594.4:p.(Leu2492Ter)	NC_000002.11:g.168105377T>A	VUS	1 lab	5445a568ec
11:108093833 ATM G>A	11	108093833	108093833	G	A	ATM	c.-111G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108093833G>A	(Likely) benign	1 lab	544823a4f5
21:35821826 KCNE1 C>T	21	35821826	35821826	C	T	KCNE1	c.107G>A	NM_000219.5	NP_000210.2:p.(Arg36His)	NC_000021.8:g.35821826C>T	(Likely) benign	1 lab	54484f0224
X:8538618 ANOS1 G>T	X	8538618	8538618	G	T	ANOS1	c.984C>A	NM_000216.2	NP_000207.2:p.(Tyr328Ter)	NC_000023.10:g.8538618G>T	(Likely) pathogenic	1 lab	5448deb6ac
2:179638091 TTN T>C	2	179638091	179638091	T	C	TTN	c.7600A>G	NM_001267550.2	NP_001254479.2:p.(Lys2534Glu)	NC_000002.11:g.179638091T>C	(Likely) benign	1 lab	544b1253b1
17:41244436 BRCA1 C>A	17	41244436	41244436	C	A	BRCA1	c.3112G>T	NM_007294.3	NP_009225.1:p.(Glu1038Ter)	NC_000017.10:g.41244436C>A	(Likely) pathogenic	1 lab	544c81054d
15:63340857 TPM1 C>T	15	63340857	63340857	C	T	TPM1	c.83C>T	NM_001018008.1	NP_001018008.1:p.(Ala28Val)	NC_000015.9:g.63340857C>T	(Likely) benign	1 lab	544eef5296
5:161520970 GABRG2 C>T	5	161520970	161520970	C	T	GABRG2	c.244C>T	NM_198903.2	NP_944493.2:p.(Arg82Trp)	NC_000005.9:g.161520970C>T	(Likely) pathogenic	1 lab	544f871076
3:37090100 MLH1 G>A	3	37090100	37090100	G	A	MLH1	c.1989G>A	NM_000249.4	NP_000240.1:p.(Glu663=)	NC_000003.11:g.37090100G>A	(Likely) pathogenic	1 lab	545148b512
10:27356140 ANKRD26 T>C	10	27356140	27356140	T	C	ANKRD26	c.1153A>G	NM_014915.2	NP_055730.2:p.(Thr385Ala)	NC_000010.10:g.27356140T>C	(Likely) benign	1 lab	082c8e9dd3
6:86333763 SYNCRIP A>G	6	86333763	86333763	A	G	SYNCRIP	c.734T>C	NM_006372.5	NP_006363.4:p.(Leu245Pro)	NC_000006.11:g.86333763A>G	VUS	1 lab	5453ebb984
11:68153980 LRP5 G>A	11	68153980	68153980	G	A	LRP5	c.1212G>A	NM_002335.4	NP_002326.2:p.(Gly404=)	NC_000011.9:g.68153980G>A	(Likely) benign	1 lab	082ed58134
7:140481418 BRAF C>T	7	140481418	140481418	C	T	BRAF	c.1390G>A	NM_004333.5	NP_004324.2:p.(Gly464Arg)	NC_000007.13:g.140481418C>T	(Likely) pathogenic	1 lab	5456ba980f
4:77680822 SHROOM3 G>A	4	77680822	77680822	G	A	SHROOM3	c.5323G>A	NM_020859.3	NP_065910.3:p.(Glu1775Lys)	NC_000004.11:g.77680822G>A	(Likely) benign	1 lab	5456f76199
11:31816178 PAX6 CT>C	11	31816178	31816181	CT	C	PAX6	c.681del	NM_000280.4	NP_000271.1:p.(Glu228SerfsTer16)	NC_000011.9:g.31816181del	(Likely) pathogenic	1 lab	5457ce5147
1:168250510 TBX19 T>C	1	168250510	168250510	T	C	TBX19	c.182T>C	NM_005149.2	NP_005140.1:p.(Met61Thr)	NC_000001.10:g.168250510T>C	VUS	1 lab	545886deec
19:18710535 CRLF1 G>A	19	18710535	18710535	G	A	CRLF1	c.237C>T	NM_004750.4	NP_004741.1:p.(Asn79=)	NC_000019.9:g.18710535G>A	(Likely) benign	1 lab	545ae7f1b8
9:139397683 NOTCH1 G>A	9	139397683	139397683	G	A	NOTCH1	c.5118C>T	NM_017617.5	NP_060087.3:p.(Leu1706=)	NC_000009.11:g.139397683G>A	(Likely) benign	1 lab	082f0ea271
5:149245754 PDE6A A>G	5	149245754	149245754	A	G	PDE6A	c.2337T>C	NM_000440.2	NP_000431.2:p.(Phe779=)	NC_000005.9:g.149245754A>G	(Likely) benign	1 lab	545c290110
X:107930853 COL4A5 C>A	X	107930853	107930853	C	A	COL4A5	c.4457C>A	NM_033380.2	NP_203699.1:p.(Thr1486Lys)	NC_000023.10:g.107930853C>A	(Likely) pathogenic	1 lab	545fe2d7f3
17:58235149 CA4 G>A	17	58235149	58235149	G	A	CA4	c.513G>A	NM_000717.4	NP_000708.1:p.(Glu171=)	NC_000017.10:g.58235149G>A	VUS	1 lab	54602f3ec5
10:89717684 PTEN A>T	10	89717684	89717684	A	T	PTEN	c.709A>T	NM_000314.4	NP_000305.3:p.(Lys237Ter)	NC_000010.10:g.89717684A>T	(Likely) pathogenic	1 lab	54636c8a4d
12:6219523 VWF A>G	12	6219523	6219523	A	G	VWF	c.532+17T>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6219523A>G	(Likely) benign	1 lab	5464f8d59a
16:23646310 PALB2 G>A	16	23646310	23646310	G	A	PALB2	c.1557C>T	NM_024675.3	NP_078951.2:p.(Ala519=)	NC_000016.9:g.23646310G>A	(Likely) benign	1 lab	54662a5bba
18:2795957 SMCHD1 G>T	18	2795957	2795957	G	T	SMCHD1	c.5730G>T	NM_015295.3	NP_056110.2:p.(Gln1910His)	NC_000018.9:g.2795957G>T	VUS	1 lab	5468956081
1:241671908 FH CA>C	1	241671908	241671910	CA	C	FH	c.732del	NM_000143.4	NP_000134.2:p.(Gln246ArgfsTer10)	NC_000001.10:g.241671910del	(Likely) pathogenic	1 lab	546d8eaa8a
1:22175134 HSPG2 A>G	1	22175134	22175134	A	G	HSPG2	c.7737+2T>C	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22175134A>G	(Likely) pathogenic	1 lab	5471611171
20:45353909 SLC2A10 C>G	20	45353909	45353909	C	G	SLC2A10	c.234C>G	NM_030777.3	NP_110404.1:p.(Ile78Met)	NC_000020.10:g.45353909C>G	(Likely) benign	1 lab	5472d5485a
11:68552334 CPT1A G>A	11	68552334	68552334	G	A	CPT1A	c.1112C>T	NM_001876.3	NP_001867.2:p.(Ser371Leu)	NC_000011.9:g.68552334G>A	VUS	1 lab	54732f379d
19:6496043 TUBB4A C>A	19	6496043	6496043	C	A	TUBB4A	c.467G>T	NM_006087.4	NP_006078.2:p.(Arg156Leu)	NC_000019.9:g.6496043C>A	(Likely) pathogenic	1 lab	5475fff6eb
19:8553566 HNRNPM C>T	19	8553566	8553566	C	T	HNRNPM	c.2030-9C>T	NM_005968.5	NP_005959.2:p.?	NC_000019.9:g.8553566C>T	(Likely) benign	1 lab	0c99d50634
16:9858232 GRIN2A C>A	16	9858232	9858232	C	A	GRIN2A	c.3169G>T	NM_000833.5	NP_000824.1:p.(Ala1057Ser)	NC_000016.9:g.9858232C>A	VUS	1 lab	5477a61003
2:200137233 SATB2 C>A	2	200137233	200137233	C	A	SATB2	c.1903G>T	NM_001172517.1	NP_001165988.1:p.(Asp635Tyr)	NC_000002.11:g.200137233C>A	VUS	1 lab	5477ee026a
1:97658657 DPYD G>C	1	97658657	97658657	G	C	DPYD	c.2590C>G	NM_000110.4	NP_000101.2:p.(Pro864Ala)	NC_000001.10:g.97658657G>C	VUS	1 lab	0d673f3c16
22:29083965 CHEK2 T>G	22	29083965	29083965	T	G	CHEK2	c.1552A>C	NM_007194.4	NP_009125.1:p.(Ser518Arg)	NC_000022.10:g.29083965T>G	(Likely) benign	1 lab	547ff09744
16:2139694 PKD1 C>T	16	2139694	2139694	C	T	PKD1	c.*34G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2139694C>T	(Likely) benign	1 lab	5481bcc4e6
5:153857547 HAND1 C>T	5	153857547	153857547	C	T	HAND1	c.22G>A	NM_004821.2	NP_004812.1:p.(Ala8Thr)	NC_000005.9:g.153857547C>T	(Likely) benign	1 lab	54865976e3
1:94463701 ABCA4 T>C	1	94463701	94463701	T	C	ABCA4	c.6480-35A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94463701T>C	(Likely) pathogenic	1 lab	548d89b13a
20:3063671 AVP A>G	20	3063671	3063671	A	G	AVP	c.274T>C	NM_000490.4	NP_000481.2:p.(Cys92Arg)	NC_000020.10:g.3063671A>G	(Likely) pathogenic	1 lab	548dbc2f41
6:6305580 F13A1 T>A	6	6305580	6305580	T	A	F13A1	c.319+4A>T	NM_000129.3	NP_000120.2:p.?	NC_000006.11:g.6305580T>A	VUS	1 lab	548f07a3df
8:61778289 CHD7 G>A	8	61778289	61778289	G	A	CHD7	c.8791G>A	NM_017780.3	NP_060250.2:p.(Val2931Met)	NC_000008.10:g.61778289G>A	(Likely) benign	1 lab	54916d115e
X:66766601 AR T>TG	X	66766601	66766602	T	TG	AR	c.1614dup	NM_000044.6	NP_000035.2:p.(Arg539AlafsTer13)	NC_000023.10:g.66766602dup	(Likely) pathogenic	1 lab	549588eac0
1:216251475 USH2A G>A	1	216251475	216251475	G	A	USH2A	c.5528C>T	NM_206933.2	NP_996816.2:p.(Pro1843Leu)	NC_000001.10:g.216251475G>A	VUS	1 lab	54d8eedb45
17:41219627 BRCA1 G>T	17	41219627	41219627	G	T	BRCA1	c.5072C>A	NM_007294.4	NP_009225.1:p.(Thr1691Lys)	NC_000017.10:g.41219627G>T	(Likely) pathogenic	1 lab	549cad315f
17:41244538 BRCA1 C>G	17	41244538	41244538	C	G	BRCA1	c.3010G>C	NM_007294.3	NP_009225.1:p.(Glu1004Gln)	NC_000017.10:g.41244538C>G	VUS	1 lab	549d49815b
10:76729859 KAT6B G>C	10	76729859	76729859	G	C	KAT6B	c.928G>C	NM_012330.3	NP_036462.2:p.(Gly310Arg)	NC_000010.10:g.76729859G>C	VUS	1 lab	549ea75f21
20:3899342 PANK2 G>A	20	3899342	3899342	G	A	PANK2	c.1561G>A	NM_153638.2	NP_705902.2:p.(Gly521Arg)	NC_000020.10:g.3899342G>A	(Likely) pathogenic	1 lab	549ec89cff
1:247587752 NLRP3 T>C	1	247587752	247587752	T	C	NLRP3	c.1007T>C	NM_001079821.2	NP_001073289.1:p.(Ile336Thr)	NC_000001.10:g.247587752T>C	VUS	1 lab	549f94f470
18:42530935 SETBP1 C>T	18	42530935	42530935	C	T	SETBP1	c.1630C>T	NM_015559.3	NP_056374.2:p.(Arg544Ter)	NC_000018.9:g.42530935C>T	(Likely) pathogenic	1 lab	54a17da482
5:112173600 APC C>G	5	112173600	112173600	C	G	APC	c.2309C>G	NM_000038.6	NP_000029.2:p.(Ser770Ter)	NC_000005.9:g.112173600C>G	(Likely) pathogenic	1 lab	54a3b6370a
3:14183159 TMEM43 C>A	3	14183159	14183159	C	A	TMEM43	c.1067C>A	NM_024334.2	NP_077310.1:p.(Ala356Asp)	NC_000003.11:g.14183159C>A	VUS	1 lab	54a61c7f6a
9:27212762 TEK G>A	9	27212762	27212762	G	A	TEK	c.2744G>A	NM_000459.5	NP_000450.3:p.(Arg915His)	NC_000009.11:g.27212762G>A	(Likely) pathogenic	1 lab	54a785e784
5:90020923 ADGRV1 T>G	5	90020923	90020923	T	G	ADGRV1	c.9927T>G	NM_032119.3	NP_115495.3:p.(Pro3309=)	NC_000005.9:g.90020923T>G	(Likely) benign	1 lab	54aa750c0f
17:68171380 KCNJ2 G>A	17	68171380	68171380	G	A	KCNJ2	c.200G>A	NM_000891.2	NP_000882.1:p.(Arg67Gln)	NC_000017.10:g.68171380G>A	(Likely) pathogenic	1 lab	54abfc20d0
17:7127985 ACADVL T>C	17	7127985	7127985	T	C	ACADVL	c.1703T>C	NM_000018.3	NP_000009.1:p.(Leu568Pro)	NC_000017.10:g.7127985T>C	VUS	1 lab	54ac01ab26
4:113352194 ALPK1 A>G	4	113352194	113352194	A	G	ALPK1	c.1491A>G	NM_025144.4	NP_079420.3:p.(Ile497Met)	NC_000004.11:g.113352194A>G	(Likely) benign	1 lab	0830c08f84
10:94392321 KIF11 C>T	10	94392321	94392321	C	T	KIF11	c.1573C>T	NM_004523.3	NP_004514.2:p.(Gln525Ter)	NC_000010.10:g.94392321C>T	(Likely) pathogenic	1 lab	54b117582b
17:33434445 RAD51D A>G	17	33434445	33434445	A	G	RAD51D	c.285T>C	NM_002878.3	NP_002869.3:p.(Ala95=)	NC_000017.10:g.33434445A>G	(Likely) benign	1 lab	54b5982e55
12:22015936 ABCC9 CATTTAATA>C	12	22015936	22015944	CATTTAATA	C	ABCC9	c.2282_2289del	NM_020297.4	NP_064693.2:p.(Leu761ArgfsTer14)	NC_000012.11:g.22015937_22015944del	VUS	1 lab	54b599e8a8
X:100656873 GLA AGGCTG>A	X	100656873	100656880	AGGCTG	A	GLA	c.370-81_370-77del	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100656876_100656880del	(Likely) benign	1 lab	54b81484bf
10:97956579 BLNK C>A	10	97956579	97956579	C	A	BLNK	c.1251+85G>T	NM_013314.3	NP_037446.1:p.?	NC_000010.10:g.97956579C>A	(Likely) benign	1 lab	08316e6058
14:21816396 RPGRIP1 A>G	14	21816396	21816396	A	G	RPGRIP1	c.3683A>G	NM_020366.3	NP_065099.3:p.(Tyr1228Cys)	NC_000014.8:g.21816396A>G	VUS	1 lab	54c1603842
20:425739 TBC1D20 G>A	20	425739	425739	G	A	TBC1D20	c.292C>T	NM_144628.2	NP_653229.1:p.(Gln98Ter)	NC_000020.10:g.425739G>A	(Likely) pathogenic	1 lab	54c2b493e6
3:49158677 LAMB2 G>C	3	49158677	49158677	G	C	LAMB2	c.5379C>G	NM_002292.3	NP_002283.3:p.(Ile1793Met)	NC_000003.11:g.49158677G>C	VUS	1 lab	54c37abc6f
7:150648633 KCNH2 G>C	7	150648633	150648633	G	C	KCNH2	c.1848C>G	NM_000238.3	NP_000229.1:p.(Tyr616Ter)	NC_000007.13:g.150648633G>C	(Likely) pathogenic	1 lab	08340733c1
17:48704060 CACNA1G A>T	17	48704060	48704060	A	T	CACNA1G	c.7082A>T	NM_018896.4	NP_061496.2:p.(Asp2361Val)	NC_000017.10:g.48704060A>T	(Likely) benign	1 lab	54cdc1db28
17:41216033 BRCA1 G>A	17	41216033	41216033	G	A	BRCA1	c.5075-65C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41216033G>A	(Likely) benign	1 lab	54ce9dfbac
3:53839113 CACNA1D C>G	3	53839113	53839113	C	G	CACNA1D	c.5749C>G	NM_000720.3	NP_000711.1:p.(Pro1917Ala)	NC_000003.11:g.53839113C>G	(Likely) benign	1 lab	54d12747e9
3:58107183 FLNB G>A	3	58107183	58107183	G	A	FLNB	c.3079G>A	NM_001457.4	NP_001448.2:p.(Gly1027Arg)	NC_000003.11:g.58107183G>A	VUS	1 lab	54d4e883fc
13:32906894 BRCA2 G>T	13	32906894	32906894	G	T	BRCA2	c.1279G>T	NM_000059.3	NP_000050.2:p.(Asp427Tyr)	NC_000013.10:g.32906894G>T	VUS	1 lab	54d57ef89a
15:85406142 ALPK3 T>C	15	85406142	85406142	T	C	ALPK3	c.5012T>C	NM_020778.4	NP_065829.3:p.(Ile1671Thr)	NC_000015.9:g.85406142T>C	VUS	1 lab	37e7c487d5
3:37042237 MLH1 A>G	3	37042237	37042237	A	G	MLH1	c.208-209A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37042237A>G	(Likely) benign	1 lab	54d7f315de
2:165947443 SCN3A G>A	2	165947443	165947443	G	A	SCN3A	c.5220C>T	NM_006922.3	NP_008853.3:p.(Asp1740=)	NC_000002.11:g.165947443G>A	(Likely) benign	1 lab	54d9922d16
12:133237590 POLE C>T	12	133237590	133237590	C	T	POLE	c.3025G>A	NM_006231.4	NP_006222.2:p.(Val1009Met)	NC_000012.11:g.133237590C>T	VUS	1 lab	54db0739d3
12:2675728 CACNA1C A>G	12	2675728	2675728	A	G	CACNA1C	c.1649A>G	NM_000719.6	NP_000710.5:p.(Asn550Ser)	NC_000012.11:g.2675728A>G	(Likely) benign	1 lab	54dc1e5c30
X:153994588 DKC1 A>G	X	153994588	153994588	A	G	DKC1	c.361A>G	NM_001363.4	NP_001354.1:p.(Ser121Gly)	NC_000023.10:g.153994588A>G	(Likely) pathogenic	1 lab	54dc4d6c07
11:111958640 SDHD C>T	11	111958640	111958640	C	T	SDHD	c.112C>T	NM_003002.4	NP_002993.1:p.(Arg38Ter)	NC_000011.9:g.111958640C>T	(Likely) pathogenic	1 lab	54de60a8b5
8:55538427 RP1 AG>A	8	55538427	55538428	AG	A	RP1	c.1986del	NM_006269.2	NP_006260.1:p.(Lys663ArgfsTer19)	NC_000008.10:g.55538428del	(Likely) pathogenic	1 lab	54e1d62368
11:44255774 EXT2 C>T	11	44255774	44255774	C	T	EXT2	c.1916C>T	NM_207122.2	NP_997005.1:p.(Thr639Met)	NC_000011.9:g.44255774C>T	VUS	1 lab	0d72bafe55
3:25792604 NGLY1 T>C	3	25792604	25792604	T	C	NGLY1	c.643A>G	NM_018297.4	NP_060767.2:p.(Arg215Gly)	NC_000003.11:g.25792604T>C	VUS	1 lab	54e410dc73
5:112175191 APC T>TA	5	112175191	112175192	T	TA	APC	c.3901dup	NM_000038.6	NP_000029.2:p.(Thr1301AsnfsTer14)	NC_000005.9:g.112175192dup	(Likely) pathogenic	1 lab	54e491ea31
2:48010411 MSH6 G>T	2	48010411	48010411	G	T	MSH6	c.39G>T	NM_000179.3	NP_000170.1:p.(Lys13Asn)	NC_000002.11:g.48010411G>T	VUS	1 lab	54e4fb9d8a
4:1961268 NSD2 A>G	4	1961268	1961268	A	G	NSD2	c.3056A>G	NM_133330.2	NP_579877.1:p.(Lys1019Arg)	NC_000004.11:g.1961268A>G	(Likely) pathogenic	1 lab	54e527ac9f
1:103471639 COL11A1 T>A	1	103471639	103471639	T	A	COL11A1	c.1776A>T	NM_001854.4	NP_001845.3:p.(Gly592=)	NC_000001.10:g.103471639T>A	VUS	1 lab	54e716b084
6:65146161 EYS G>A	6	65146161	65146161	G	A	EYS				NC_000006.11:g.65146161G>A	VUS	1 lab	54e8dd368f
17:57762541 CLTC G>T	17	57762541	57762541	G	T	CLTC	c.4559G>T	NM_004859.4	NP_004850.1:p.(Arg1520Leu)	NC_000017.10:g.57762541G>T	VUS	1 lab	54e99f96c1
10:1151064 WDR37 A>G	10	1151064	1151064	A	G	WDR37	c.962-2A>G	NM_014023.4	NP_054742.2:p.?	NC_000010.10:g.1151064A>G	VUS	1 lab	551a8471a3
X:128582408 SMARCA1 G>A	X	128582408	128582408	G	A	SMARCA1	c.3043C>T	NM_001282874.1	NP_001269803.1:p.(Arg1015Cys)	NC_000023.10:g.128582408G>A	VUS	1 lab	54ea17037f
17:19561121 ALDH3A2 CTG>C	17	19561121	19561125	CTG	C	ALDH3A2				NC_000017.10:g.19561124_19561125del	(Likely) pathogenic	1 lab	54ea6c1306
12:6143979 VWF G>A	12	6143979	6143979	G	A	VWF	c.2560C>T	NM_000552.3	NP_000543.2:p.(Arg854Trp)	NC_000012.11:g.6143979G>A	(Likely) pathogenic	1 lab	54ee2b9c88
16:1496695 CLCN7 C>A	16	1496695	1496695	C	A	CLCN7	c.2355G>T	NM_001287.6	NP_001278.1:p.(Lys785Asn)	NC_000016.9:g.1496695C>A	(Likely) pathogenic	1 lab	54f0be09e1
1:196918741 CFHR2 G>A	1	196918741	196918741	G	A	CFHR2	c.215G>A	NM_005666.4	NP_005657.1:p.(Cys72Tyr)	NC_000001.10:g.196918741G>A	(Likely) benign	1 lab	54f783ea9b
9:446351 DOCK8 C>G	9	446351	446351	C	G	DOCK8	c.5581-19C>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.446351C>G	(Likely) benign	1 lab	7c8d12b41b
2:73679280 MISSING A>G	2	73679280	73679280	A	G	MISSING				NC_000002.11:g.73679280A>G	(Likely) benign	1 lab	54f8ae6a45
X:153005609 ABCD1 C>T	X	153005609	153005609	C	T	ABCD1	c.1552C>T	NM_000033.3	NP_000024.2:p.(Arg518Trp)	NC_000023.10:g.153005609C>T	(Likely) pathogenic	1 lab	54fedbe735
X:151532956 GABRA3 T>A	X	151532956	151532956	T	A	GABRA3	c.87A>T	NM_000808.4	NP_000799.1:p.(Gln29His)	NC_000023.10:g.151532956T>A	(Likely) pathogenic	1 lab	5504aa6658
3:193361844 OPA1 G>T	3	193361844	193361844	G	T	OPA1				NC_000003.11:g.193361844G>T	VUS	1 lab	5504b95040
11:67926630 KMT5B G>A	11	67926630	67926630	G	A	KMT5B	c.1183C>T	NM_017635.5	NP_060105.3:p.(Arg395Ter)	NC_000011.9:g.67926630G>A	(Likely) pathogenic	1 lab	550b380391
15:63356537 TPM1 A>G	15	63356537	63356537	A	G	TPM1	c.851+196A>G	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63356537A>G	(Likely) benign	1 lab	550e17bf8d
X:122537297 GRIA3 C>T	X	122537297	122537297	C	T	GRIA3	c.1220C>T	NM_000828.4	NP_000819.3:p.(Pro407Leu)	NC_000023.10:g.122537297C>T	VUS	1 lab	551648e5e4
21:45753071 CFAP410 C>G	21	45753071	45753071	C	G	CFAP410	c.218G>C	NM_004928.3	NP_004919.1:p.(Arg73Pro)	NC_000021.8:g.45753071C>G	(Likely) pathogenic	1 lab	55175ebb78
11:76858881 MYO7A A>G	11	76858881	76858881	A	G	MYO7A	c.170A>G	NM_000260.3	NP_000251.3:p.(Lys57Arg)	NC_000011.9:g.76858881A>G	VUS	1 lab	55189fea94
6:157524999 ARID1B G>C	6	157524999	157524999	G	C	ARID1B	c.4895-1G>C	NM_020732.3	NP_065783.3:p.?	NC_000006.11:g.157524999G>C	(Likely) pathogenic	1 lab	551b6812b3
X:38145305 RPGR C>A	X	38145305	38145305	C	A	RPGR	c.2947G>T	NM_001034853.1	NP_001030025.1:p.(Glu983Ter)	NC_000023.10:g.38145305C>A	(Likely) pathogenic	1 lab	551dec0ce1
7:151292377 PRKAG2 A>G	7	151292377	151292377	A	G	PRKAG2	c.864+54T>C	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151292377A>G	(Likely) benign	1 lab	551f70bcdf
10:73553394 CDH23 A>G	10	73553394	73553394	A	G	CDH23	c.6709A>G	NM_022124.6	NP_071407.4:p.(Thr2237Ala)	NC_000010.10:g.73553394A>G	VUS	1 lab	5520ba1486
5:112175174 APC G>T	5	112175174	112175174	G	T	APC	c.3883G>T	NM_000038.5	NP_000029.2:p.(Glu1295Ter)	NC_000005.9:g.112175174G>T	(Likely) pathogenic	1 lab	55214d75b3
7:44282158 CAMK2B C>T	7	44282158	44282158	C	T	CAMK2B	c.696+1G>A	NM_001220.4	NP_001211.3:p.?	NC_000007.13:g.44282158C>T	VUS	1 lab	55256226ad
10:102566255 PAX2 C>T	10	102566255	102566255	C	T	PAX2	c.754C>T	NM_003990.4	NP_003981.3:p.(Arg252Ter)	NC_000010.10:g.102566255C>T	(Likely) pathogenic	1 lab	5525b590fa
9:98270646 PTCH1 TGCCGCC>T	9	98270646	98270669	TGCCGCC	T	PTCH1	c.-9_-4del	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98270664_98270669del	(Likely) benign	1 lab	55273257a9
X:100653154 GLA ATTC>A	X	100653154	100653159	ATTC	A	GLA	c.1000-70_1000-68del	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653157_100653159del	VUS	1 lab	5528788146
19:42471481 ATP1A3 C>T	19	42471481	42471481	C	T	ATP1A3	c.2933G>A	NM_152296.4	NP_689509.1:p.(Trp978Ter)	NC_000019.9:g.42471481C>T	(Likely) pathogenic	1 lab	55296f4b0d
6:26087708 HFE C>G	6	26087708	26087708	C	G	HFE	c.40C>G	NM_000410.3	NP_000401.1:p.(Leu14Val)	NC_000006.11:g.26087708C>G	(Likely) benign	1 lab	552a898c3c
5:74984818 MISSING A>T	5	74984818	74984818	A	T	MISSING				NC_000005.9:g.74984818A>T	(Likely) benign	1 lab	552c66698c
2:39249956 SOS1 A>G	2	39249956	39249956	A	G	SOS1	c.1613T>C	NM_005633.3	NP_005624.2:p.(Met538Thr)	NC_000002.11:g.39249956A>G	VUS	1 lab	552e6284f5
4:110667453 CFI C>A	4	110667453	110667453	C	A	CFI	c.1354G>T	NM_000204.4	NP_000195.2:p.(Ala452Ser)	NC_000004.11:g.110667453C>A	VUS	1 lab	552fcf7dff
20:2384316 TGM6 G>T	20	2384316	2384316	G	T	TGM6				NC_000020.10:g.2384316G>T	VUS	1 lab	55febc5e3c
3:122002678 CASR T>C	3	122002678	122002678	T	C	CASR	c.1877T>C	NM_000388.4	NP_000379.3:p.(Leu626Pro)	NC_000003.11:g.122002678T>C	VUS	1 lab	55321d88eb
22:46780497 CELSR1 C>G	22	46780497	46780497	C	G	CELSR1	c.6826G>C	NM_014246.1	NP_055061.1:p.(Glu2276Gln)	NC_000022.10:g.46780497C>G	VUS	1 lab	55340a1db6
8:61778054 CHD7 C>T	8	61778054	61778054	C	T	CHD7	c.8556C>T	NM_017780.3	NP_060250.2:p.(Asp2852=)	NC_000008.10:g.61778054C>T	(Likely) benign	1 lab	55368c3b6a
14:23900939 MYH7 G>A	14	23900939	23900939	G	A	MYH7	c.639+31C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900939G>A	(Likely) benign	1 lab	5538f00ca9
6:7862556 BMP6 C>T	6	7862556	7862556	C	T	BMP6	c.1029C>T	NM_001718.5	NP_001709.1:p.(Ala343=)	NC_000006.11:g.7862556C>T	(Likely) benign	1 lab	553953f0be
17:42338248 SLC4A1 A>G	17	42338248	42338248	A	G	SLC4A1	c.169-65T>C	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42338248A>G	(Likely) benign	1 lab	7c8ee2f756
1:228509429 OBSCN C>T	1	228509429	228509429	C	T	OBSCN	c.17758C>T	NM_001271223.2	NP_001258152.2:p.(Arg5920Cys)	NC_000001.10:g.228509429C>T	(Likely) benign	1 lab	553b7344ae
7:128483853 FLNC A>G	7	128483853	128483853	A	G	FLNC				NC_000007.13:g.128483853A>G	(Likely) benign	1 lab	553c9f22af
3:12645687 RAF1 G>A	3	12645687	12645687	G	A	RAF1				NC_000003.11:g.12645687G>A	(Likely) pathogenic	1 lab	553d5c0bbf
13:20763508 GJB2 G>A	13	20763508	20763508	G	A	GJB2	c.213C>T	NM_004004.5	NP_003995.2:p.(Ile71=)	NC_000013.10:g.20763508G>A	(Likely) benign	1 lab	553fd3feea
5:82838089 VCAN T>C	5	82838089	82838089	T	C	VCAN	c.9265+2T>C	NM_004385.4	NP_004376.2:p.?	NC_000005.9:g.82838089T>C	(Likely) pathogenic	1 lab	553fe2c295
19:35524673 SCN1B G>A	19	35524673	35524673	G	A	SCN1B	c.478G>A	NM_199037.4	NP_950238.1:p.(Val160Ile)	NC_000019.9:g.35524673G>A	(Likely) benign	1 lab	55452a379e
12:54920409 NCKAP1L C>T	12	54920409	54920409	C	T	NCKAP1L	c.2254C>T	NM_005337.5	NP_005328.2:p.(Gln752Ter)	NC_000012.11:g.54920409C>T	(Likely) pathogenic	1 lab	554903282b
2:179642611 TTN G>A	2	179642611	179642611	G	A	TTN	c.4300C>T	NM_001267550.2	NP_001254479.2:p.(Pro1434Ser)	NC_000002.11:g.179642611G>A	VUS	1 lab	554cc8d224
5:132269900 AFF4 T>A	5	132269900	132269900	T	A	AFF4	c.857A>T	NM_014423.3	NP_055238.1:p.(Glu286Val)	NC_000005.9:g.132269900T>A	(Likely) benign	1 lab	554ce03a20
1:156106706 LMNA C>G	1	156106706	156106706	C	G	LMNA	c.1381-6C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106706C>G	VUS	1 lab	554dc51d56
9:126136939 CRB2 C>T	9	126136939	126136939	C	T	CRB2	c.3471C>T	NM_173689.7	NP_775960.4:p.(Ala1157=)	NC_000009.11:g.126136939C>T	(Likely) benign	1 lab	084306d861
2:240056091 HDAC4 G>A	2	240056091	240056091	G	A	HDAC4	c.1144C>T	NM_006037.3	NP_006028.2:p.(Gln382Ter)	NC_000002.11:g.240056091G>A	(Likely) pathogenic	1 lab	554efaf23f
12:52201031 SCN8A A>C	12	52201031	52201031	A	C	SCN8A				NC_000012.11:g.52201031A>C	(Likely) benign	1 lab	55505e588d
7:47988031 PKD1L1 C>T	7	47988031	47988031	C	T	PKD1L1	c.7G>A	NM_138295.4	NP_612152.1:p.(Glu3Lys)	NC_000007.13:g.47988031C>T	(Likely) benign	1 lab	5550bf8e35
9:21974705 CDKN2A G>C	9	21974705	21974705	G	C	CDKN2A	c.122C>G	NM_000077.4	NP_000068.1:p.(Pro41Arg)	NC_000009.11:g.21974705G>C	VUS	1 lab	5555b6db4d
4:114163351 ANK2 G>A	4	114163351	114163351	G	A	ANK2	c.877G>A	NM_001148.4	NP_001139.3:p.(Asp293Asn)	NC_000004.11:g.114163351G>A	VUS	1 lab	5555c8bcf7
2:179642597 TTN G>A	2	179642597	179642597	G	A	TTN	c.4314C>T	NM_001267550.2	NP_001254479.2:p.(Ser1438=)	NC_000002.11:g.179642597G>A	(Likely) benign	1 lab	5557ac53e2
3:9483280 SETD5 C>T	3	9483280	9483280	C	T	SETD5	c.814C>T	NM_001080517.2	NP_001073986.1:p.(Gln272Ter)	NC_000003.11:g.9483280C>T	(Likely) pathogenic	1 lab	555ca5c702
1:20412668 PLA2G5 G>T	1	20412668	20412668	G	T	PLA2G5	c.133G>T	NM_000929.2	NP_000920.1:p.(Gly45Cys)	NC_000001.10:g.20412668G>T	(Likely) pathogenic	1 lab	555f02e0c3
13:32889665 BRCA2 A>C	13	32889665	32889665	A	C	BRCA2	c.-179A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32889665A>C	(Likely) benign	1 lab	555f091490
2:179614020 TTN T>C	2	179614020	179614020	T	C	TTN	c.13107A>G	NM_133379.4	NP_596870.2:p.(Lys4369=)	NC_000002.11:g.179614020T>C	(Likely) benign	1 lab	556039a55d
1:94577057 ABCA4 G>A	1	94577057	94577057	G	A	ABCA4	c.239C>T	NM_000350.2	NP_000341.2:p.(Pro80Leu)	NC_000001.10:g.94577057G>A	VUS	1 lab	556040fbfe
22:50964446 TYMP A>T	22	50964446	50964446	A	T	TYMP	c.1284T>A	NM_001257988.1	NP_001244917.1:p.(Gly428=)	NC_000022.10:g.50964446A>T	(Likely) benign	1 lab	556359b861
3:41275254 CTNNB1 C>T	3	41275254	41275254	C	T	CTNNB1	c.1420C>T	NM_001904.3	NP_001895.1:p.(Arg474Ter)	NC_000003.11:g.41275254C>T	(Likely) pathogenic	1 lab	5563dc3e84
6:121768045 GJA1 T>C	6	121768045	121768045	T	C	GJA1	c.52T>C	NM_000165.3	NP_000156.1:p.(Ser18Pro)	NC_000006.11:g.121768045T>C	(Likely) pathogenic	1 lab	5565a3b113
1:55523483 PCSK9 C>T	1	55523483	55523483	C	T	PCSK9	c.1181-226C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523483C>T	(Likely) benign	1 lab	1131548aba
13:32910962 BRCA2 TTAAATG>T	13	32910962	32910968	TTAAATG	T	BRCA2	c.2471_2476del	NM_000059.4	NP_000050.3:p.(Leu824Ter)	NC_000013.10:g.32910963_32910968del	(Likely) pathogenic	1 lab	55667c2dcb
2:220283708 DES G>A	2	220283708	220283708	G	A	DES	c.524G>A	NM_001927.3	NP_001918.3:p.(Arg175His)	NC_000002.11:g.220283708G>A	VUS	1 lab	556be430ca
2:152408351 NEB G>T	2	152408351	152408351	G	T	NEB	c.19845C>A	NM_001271208.2	NP_001258137.2:p.(Tyr6615Ter)	NC_000002.11:g.152408351G>T	(Likely) pathogenic	1 lab	556e69f09d
12:33031360 PKP2 G>A	12	33031360	33031360	G	A	PKP2	c.454C>T	NM_004572.3	NP_004563.2:p.(Pro152Ser)	NC_000012.11:g.33031360G>A	VUS	1 lab	556fb3415c
4:166986948 TLL1 T>G	4	166986948	166986948	T	G	TLL1	c.2121T>G	NM_012464.5	NP_036596.3:p.(Asn707Lys)	NC_000004.11:g.166986948T>G	VUS	1 lab	556fcf491e
X:153453504 OPN1MW G>A	X	153453504	153453504	G	A	OPN1MW	c.358G>A	NM_000513.2	NP_000504.1:p.(Val120Met)	NC_000023.10:g.153453504G>A	(Likely) pathogenic	1 lab	5570515db4
22:32289591 DEPDC5 A>G	22	32289591	32289591	A	G	DEPDC5	c.4057A>G	NM_001242896.1	NP_001229825.1:p.(Thr1353Ala)	NC_000022.10:g.32289591A>G	VUS	1 lab	557611f65c
8:145622501 CPSF1 G>A	8	145622501	145622501	G	A	CPSF1	c.2513C>T	NM_013291.3	NP_037423.2:p.(Thr838Met)	NC_000008.10:g.145622501G>A	VUS	1 lab	557a5c12fb
2:48026790 MSH6 T>A	2	48026790	48026790	T	A	MSH6	c.1668T>A	NM_000179.2	NP_000170.1:p.(Tyr556Ter)	NC_000002.11:g.48026790T>A	(Likely) pathogenic	1 lab	557e21b4e0
7:75695657 MDH2 A>G	7	75695657	75695657	A	G	MDH2	c.946A>G	NM_005918.3	NP_005909.2:p.(Ile316Val)	NC_000007.13:g.75695657A>G	(Likely) benign	1 lab	557e7627e9
X:153453411 OPN1MW A>G	X	153453411	153453411	A	G	OPN1MW	c.265A>G	NM_000513.2	NP_000504.1:p.(Asn89Asp)	NC_000023.10:g.153453411A>G	VUS	1 lab	557f04d4bf
20:52790005 CYP24A1 C>A	20	52790005	52790005	C	A	CYP24A1	c.114G>T	NM_000782.4	NP_000773.2:p.(Pro38=)	NC_000020.10:g.52790005C>A	(Likely) benign	1 lab	55803d0caf
13:32900628 BRCA2 C>G	13	32900628	32900628	C	G	BRCA2	c.517-8C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900628C>G	(Likely) benign	1 lab	55811156df
6:64499118 EYS C>G	6	64499118	64499118	C	G	EYS	c.7412-1G>C	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.64499118C>G	(Likely) pathogenic	1 lab	55848249dd
4:100479328 TRMT10A G>A	4	100479328	100479328	G	A	TRMT10A	c.226C>T	NM_001134665.2	NP_001128137.1:p.(Arg76Ter)	NC_000004.11:g.100479328G>A	VUS	1 lab	55859e564f
7:143027919 CLCN1 G>A	7	143027919	143027919	G	A	CLCN1	c.908G>A	NM_000083.2	NP_000074.2:p.(Trp303Ter)	NC_000007.13:g.143027919G>A	(Likely) pathogenic	1 lab	55874bc60d
7:150645682 KCNH2 G>A	7	150645682	150645682	G	A	KCNH2	c.2593-51C>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150645682G>A	(Likely) benign	1 lab	55887b1d12
20:42744855 JPH2 G>A	20	42744855	42744855	G	A	JPH2	c.1460C>T	NM_020433.4	NP_065166.2:p.(Pro487Leu)	NC_000020.10:g.42744855G>A	VUS	1 lab	558897d5cd
12:32974358 PKP2 T>C	12	32974358	32974358	T	C	PKP2	c.2077A>G	NM_004572.3	NP_004563.2:p.(Ser693Gly)	NC_000012.11:g.32974358T>C	VUS	1 lab	558c86dd49
4:16010719 PROM1 AC>A	4	16010719	16010722	AC	A	PROM1	c.1153del	NM_006017.2	NP_006008.1:p.(Val385SerfsTer2)	NC_000004.11:g.16010722del	(Likely) pathogenic	1 lab	558f715609
13:32937308 BRCA2 A>T	13	32937308	32937308	A	T	BRCA2	c.7977-8A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937308A>T	(Likely) benign	1 lab	559476ee70
2:167133767 SCN9A C>T	2	167133767	167133767	C	T	SCN9A	c.2567G>A	NM_002977.3	NP_002968.1:p.(Gly856Asp)	NC_000002.11:g.167133767C>T	(Likely) pathogenic	1 lab	5596ae7a20
12:6092340 VWF C>T	12	6092340	6092340	C	T	VWF				NC_000012.11:g.6092340C>T	VUS	1 lab	55976a3a88
13:23907108 SACS C>T	13	23907108	23907108	C	T	SACS	c.10907G>A	NM_014363.4	NP_055178.3:p.(Arg3636Gln)	NC_000013.10:g.23907108C>T	VUS	1 lab	559918a99e
15:72057469 THSD4 AC>A	15	72057469	72057475	AC	A	THSD4	c.2706del	NM_024817.3	NP_079093.2:p.(Ser903AlafsTer42)	NC_000015.9:g.72057475del	(Likely) pathogenic	1 lab	0845cd5d3b
14:23859490 MYH6 C>T	14	23859490	23859490	C	T	MYH6	c.3508G>A	NM_002471.3	NP_002462.2:p.(Glu1170Lys)	NC_000014.8:g.23859490C>T	VUS	1 lab	55a5e8875d
18:19427019 MIB1 C>T	18	19427019	19427019	C	T	MIB1	c.2326C>T	NM_020774.3	NP_065825.1:p.(Pro776Ser)	NC_000018.9:g.19427019C>T	VUS	1 lab	55ad18bcc6
3:52441430 BAP1 T>C	3	52441430	52441430	T	C	BAP1	c.422A>G	NM_004656.4	NP_004647.1:p.(His141Arg)	NC_000003.11:g.52441430T>C	VUS	1 lab	55ad5a394f
8:48776001 PRKDC C>T	8	48776001	48776001	C	T	PRKDC	c.5709G>A	NM_006904.6	NP_008835.5:p.(Ser1903=)	NC_000008.10:g.48776001C>T	(Likely) benign	1 lab	084fac4b80
9:124062258 GSN C>T	9	124062258	124062258	C	T	GSN	c.119C>T	NM_000177.5	NP_000168.1:p.(Pro40Leu)	NC_000009.11:g.124062258C>T	(Likely) benign	1 lab	085004d247
3:121981227 CASR T>C	3	121981227	121981227	T	C	CASR	c.1345T>C	NM_000388.3	NP_000379.2:p.(Cys449Arg)	NC_000003.11:g.121981227T>C	VUS	1 lab	55b3baa4f8
1:171086482 FMO3 G>A	1	171086482	171086482	G	A	FMO3	c.1499G>A	NM_001002294.2	NP_001002294.1:p.(Arg500Gln)	NC_000001.10:g.171086482G>A	(Likely) pathogenic	1 lab	55b4b4abe5
19:4101014 MAP2K2 C>CG	19	4101014	4101015	C	CG	MAP2K2	c.705+2_705+3insC	NM_030662.3	NP_109587.1:p.?	NC_000019.9:g.4101014_4101015insG	(Likely) benign	1 lab	55b89e77a0
3:148903172 CP A>G	3	148903172	148903172	A	G	CP	c.2139T>C	NM_000096.4	NP_000087.2:p.(Tyr713=)	NC_000003.11:g.148903172A>G	(Likely) benign	1 lab	55bc2f9ead
2:219754719 WNT10A C>A	2	219754719	219754719	C	A	WNT10A				NC_000002.11:g.219754719C>A	VUS	1 lab	55c205574e
4:6302574 WFS1 A>G	4	6302574	6302574	A	G	WFS1	c.1052A>G	NM_006005.3	NP_005996.2:p.(Tyr351Cys)	NC_000004.11:g.6302574A>G	VUS	1 lab	0d8cb8cdf1
X:48340103 FTSJ1 G>A	X	48340103	48340103	G	A	FTSJ1	c.655G>A	NM_012280.2	NP_036412.1:p.(Asp219Asn)	NC_000023.10:g.48340103G>A	(Likely) pathogenic	1 lab	55c2812f21
1:74941262 TNNI3K T>G	1	74941262	74941262	T	G	TNNI3K	c.2121+12028T>G	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74941262T>G	(Likely) benign	1 lab	55c4f2a6c1
1:201334785 TNNT2 T>C	1	201334785	201334785	T	C	TNNT2	c.247A>G	NM_000364.3	NP_000355.2:p.(Asn83Asp)	NC_000001.10:g.201334785T>C	VUS	1 lab	55c58b480b
1:236927207 ACTN2 T>G	1	236927207	236927207	T	G	ACTN2	c.*1288T>G	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236927207T>G	(Likely) benign	1 lab	55c5ecab09
1:201063085 CACNA1S T>C	1	201063085	201063085	T	C	CACNA1S	c.323A>G	NM_000069.2	NP_000060.2:p.(Tyr108Cys)	NC_000001.10:g.201063085T>C	VUS	1 lab	55cc226317
19:50756015 MYH14 G>A	19	50756015	50756015	G	A	MYH14	c.1945+5G>A	NM_001145809.1	NP_001139281.1:p.?	NC_000019.9:g.50756015G>A	VUS	1 lab	55ccf370f9
11:4104480 STIM1 C>T	11	4104480	4104480	C	T	STIM1	c.1239-13C>T	NM_001277961.1	NP_001264890.1:p.?	NC_000011.9:g.4104480C>T	(Likely) benign	1 lab	08505fe6eb
19:39062830 RYR1 A>G	19	39062830	39062830	A	G	RYR1				NC_000019.9:g.39062830A>G	VUS	1 lab	55d0e19c83
7:121721558 AASS G>A	7	121721558	121721558	G	A	AASS	c.2276C>T	NM_005763.3	NP_005754.2:p.(Thr759Ile)	NC_000007.13:g.121721558G>A	VUS	1 lab	55d44c299a
2:179544337 TTN G>A	2	179544337	179544337	G	A	TTN	c.33653C>T	NM_001267550.2	NP_001254479.2:p.(Pro11218Leu)	NC_000002.11:g.179544337G>A	VUS	1 lab	55dedff01f
X:110439708 PAK3 A>C	X	110439708	110439708	A	C	PAK3				NC_000023.10:g.110439708A>C	(Likely) pathogenic	1 lab	55e31cdf28
11:47352920 MADD AT>A	11	47352920	47352925	AT	A	MADD				NC_000011.9:g.47352925del	(Likely) benign	1 lab	55e8ec8333
1:216251416 USH2A C>T	1	216251416	216251416	C	T	USH2A	c.5572+15G>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216251416C>T	(Likely) benign	1 lab	55eb4ab6dd
2:32339698 SPAST C>T	2	32339698	32339698	C	T	SPAST	c.683-9C>T	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32339698C>T	(Likely) benign	1 lab	55ec5fe27d
14:23900677 MYH7 C>T	14	23900677	23900677	C	T	MYH7	c.746G>A	NM_000257.2	NP_000248.2:p.(Arg249Gln)	NC_000014.8:g.23900677C>T	(Likely) pathogenic	1 lab	37ff18027d
3:181430485 SOX2 C>T	3	181430485	181430485	C	T	SOX2	c.337C>T	NM_003106.3	NP_003097.1:p.(Arg113Trp)	NC_000003.11:g.181430485C>T	VUS	1 lab	55eed9a6c1
22:32211199 DEPDC5 G>T	22	32211199	32211199	G	T	DEPDC5	c.1666+1G>T	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32211199G>T	VUS	1 lab	55eef4c039
X:153008688 ABCD1 C>T	X	153008688	153008688	C	T	ABCD1	c.1879C>T	NM_000033.4	NP_000024.2:p.(Leu627Phe)	NC_000023.10:g.153008688C>T	VUS	1 lab	55ef0b852e
12:6058305 VWF C>G	12	6058305	6058305	C	G	VWF	c.8318G>C	NM_000552.3	NP_000543.2:p.(Cys2773Ser)	NC_000012.11:g.6058305C>G	VUS	1 lab	55f34325df
17:29661923 NF1 C>A	17	29661923	29661923	C	A	NF1	c.5880C>A	NM_001042492.3	NP_001035957.1:p.(Cys1960Ter)	NC_000017.10:g.29661923C>A	(Likely) pathogenic	1 lab	55f61626b5
12:33030995 PKP2 C>A	12	33030995	33030995	C	A	PKP2	c.819G>T	NM_004572.3	NP_004563.2:p.(Pro273=)	NC_000012.11:g.33030995C>A	(Likely) benign	1 lab	55f687bc55
1:241667448 FH A>C	1	241667448	241667448	A	C	FH				NC_000001.10:g.241667448A>C	(Likely) pathogenic	1 lab	55f6fadb91
3:38770114 SCN10A G>A	3	38770114	38770114	G	A	SCN10A	c.2559C>T	NM_006514.4	NP_006505.4:p.(Asn853=)	NC_000003.11:g.38770114G>A	(Likely) benign	1 lab	55f8968d08
12:112926888 PTPN11 G>T	12	112926888	112926888	G	T	PTPN11	c.1508G>T	NM_002834.3	NP_002825.3:p.(Gly503Val)	NC_000012.11:g.112926888G>T	(Likely) pathogenic	1 lab	55fad2979f
3:123348440 MYLK G>A	3	123348440	123348440	G	A	MYLK	c.4995C>T	NM_053025.3	NP_444253.3:p.(Asn1665=)	NC_000003.11:g.123348440G>A	(Likely) benign	1 lab	560491d44a
11:108139530 ATM A>G	11	108139530	108139530	A	G	ATM	c.2838+194A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139530A>G	(Likely) benign	1 lab	560788709c
2:179474630 TTN C>G	2	179474630	179474630	C	G	TTN	c.51520G>C	NM_001267550.2	NP_001254479.2:p.(Asp17174His)	NC_000002.11:g.179474630C>G	VUS	1 lab	560e9271a0
X:17746102 NHS T>G	X	17746102	17746102	T	G	NHS	c.3813T>G	NM_198270.2	NP_938011.1:p.(Tyr1271Ter)	NC_000023.10:g.17746102T>G	(Likely) pathogenic	1 lab	56152e7d50
1:226109326 PYCR2 C>A	1	226109326	226109326	C	A	PYCR2	c.559G>T	NM_013328.4	NP_037460.2:p.(Ala187Ser)	NC_000001.10:g.226109326C>A	VUS	1 lab	5616c8879a
12:125459996 DHX37 G>A	12	125459996	125459996	G	A	DHX37	c.949C>T	NM_032656.3	NP_116045.2:p.(Arg317Ter)	NC_000012.11:g.125459996G>A	VUS	1 lab	561b20c8ea
18:46783393 DYM G>A	18	46783393	46783393	G	A	DYM	c.1447C>T	NM_017653.3	NP_060123.3:p.(Gln483Ter)	NC_000018.9:g.46783393G>A	(Likely) pathogenic	1 lab	561da012ce
9:98270529 PTCH1 GC>G	9	98270529	98270536	GC	G	PTCH1	c.114del	NM_000264.3	NP_000255.2:p.(Leu39CysfsTer41)	NC_000009.11:g.98270536del	(Likely) pathogenic	1 lab	561e05c9ba
11:654008 DEAF1 G>T	11	654008	654008	G	T	DEAF1	c.1547C>A	NM_021008.3	NP_066288.2:p.(Thr516Asn)	NC_000011.9:g.654008G>T	VUS	1 lab	561f2ecddb
6:42672351 PRPH2 T>C	6	42672351	42672351	T	C	PRPH2	c.582-2A>G	NM_000322.5	NP_000313.2:p.?	NC_000006.11:g.42672351T>C	(Likely) pathogenic	1 lab	561f82cb5f
X:153216819 HCFC1 A>C	X	153216819	153216819	A	C	HCFC1	c.5499T>G	NM_005334.2	NP_005325.2:p.(Asp1833Glu)	NC_000023.10:g.153216819A>C	VUS	1 lab	561ffbdbc7
3:38592496 SCN5A G>A	3	38592496	38592496	G	A	SCN5A	c.5367C>T	NM_198056.2	NP_932173.1:p.(Asp1789=)	NC_000003.11:g.38592496G>A	(Likely) benign	1 lab	56295ddea5
17:7578404 TP53 A>C	17	7578404	7578404	A	C	TP53	c.526T>G	NM_000546.6	NP_000537.3:p.(Cys176Gly)	NC_000017.10:g.7578404A>C	(Likely) pathogenic	1 lab	562bdb1482
12:6090965 VWF C>T	12	6090965	6090965	C	T	VWF	c.7274G>A	NM_000552.3	NP_000543.2:p.(Cys2425Tyr)	NC_000012.11:g.6090965C>T	VUS	1 lab	562cb9fe20
19:49468597 FTL G>C	19	49468597	49468597	G	C	FTL	c.-168G>C	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468597G>C	(Likely) pathogenic	1 lab	562db3f544
6:7575521 DSP C>T	6	7575521	7575521	C	T	DSP	c.2437-7C>T	NM_004415.3	NP_004406.2:p.?	NC_000006.11:g.7575521C>T	(Likely) benign	1 lab	562eec9f45
18:28650836 DSC2 T>A	18	28650836	28650836	T	A	DSC2	c.2126-20A>T	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28650836T>A	(Likely) benign	1 lab	5634d2b7d3
14:23882186 MYH7 T>G	14	23882186	23882186	T	G	MYH7	c.5791-106A>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23882186T>G	(Likely) benign	1 lab	5651241b64
2:47693930 MSH2 TGTTAAATTTACCAACA>T	2	47693930	47693947	TGTTAAATTTACCAACA	T	MSH2	c.1646_1661del	NM_000251.3	NP_000242.1:p.(Val549AlafsTer3)	NC_000002.11:g.47693932_47693947del	(Likely) pathogenic	1 lab	5636c5cab1
16:2224276 TRAF7 A>G	16	2224276	2224276	A	G	TRAF7	c.1288A>G	NM_032271.3	NP_115647.2:p.(Lys430Glu)	NC_000016.9:g.2224276A>G	(Likely) pathogenic	1 lab	5637465ed9
5:112179113 APC G>A	5	112179113	112179113	G	A	APC	c.7822G>A	NM_000038.5	NP_000029.2:p.(Ala2608Thr)	NC_000005.9:g.112179113G>A	(Likely) benign	1 lab	5638e7dc41
2:121747587 GLI2 T>C	2	121747587	121747587	T	C	GLI2				NC_000002.11:g.121747587T>C	VUS	1 lab	5642415b9f
11:65319571 LTBP3 T>C	11	65319571	65319571	T	C	LTBP3	c.1403A>G	NM_001130144.3	NP_001123616.1:p.(Gln468Arg)	NC_000011.9:g.65319571T>C	VUS	1 lab	5647c29998
1:6029226 NPHP4 TCTGGAGGCTCCCATCC>T	1	6029226	6029243	TCTGGAGGCTCCCATCC	T	NPHP4	c.357_372del	NM_015102.4	NP_055917.1:p.(Asp120HisfsTer53)	NC_000001.10:g.6029228_6029243del	(Likely) pathogenic	1 lab	5648ea3d83
1:196749042 CFHR3 G>A	1	196749042	196749042	G	A	CFHR3	c.369G>A	NM_021023.5	NP_066303.2:p.(Ala123=)	NC_000001.10:g.196749042G>A	(Likely) benign	1 lab	564aae0df3
13:20717231 GJA3 T>C	13	20717231	20717231	T	C	GJA3	c.197A>G	NM_021954.3	NP_068773.2:p.(Tyr66Cys)	NC_000013.10:g.20717231T>C	(Likely) pathogenic	1 lab	564ee400c7
20:62045480 KCNQ2 T>A	20	62045480	62045480	T	A	KCNQ2	c.1592A>T	NM_172107.3	NP_742105.1:p.(Asp531Val)	NC_000020.10:g.62045480T>A	VUS	1 lab	5650317dd8
7:6031690 PMS2 T>C	7	6031690	6031690	T	C	PMS2	c.904-2A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6031690T>C	(Likely) pathogenic	1 lab	565036d814
17:48245382 SGCA T>C	17	48245382	48245382	T	C	SGCA	c.385+2T>C	NM_000023.3	NP_000014.1:p.?	NC_000017.10:g.48245382T>C	(Likely) pathogenic	1 lab	565234150d
15:66729175 MAP2K1 G>A	15	66729175	66729175	G	A	MAP2K1	c.383G>A	NM_002755.3	NP_002746.1:p.(Gly128Asp)	NC_000015.9:g.66729175G>A	(Likely) pathogenic	1 lab	565389a23d
17:39914996 JUP C>T	17	39914996	39914996	C	T	JUP	c.1624G>A	NM_001352776.1	NP_001339705.1:p.(Val542Ile)	NC_000017.10:g.39914996C>T	(Likely) benign	1 lab	56540b0734
1:216462628 USH2A A>C	1	216462628	216462628	A	C	USH2A	c.1965T>G	NM_206933.2	NP_996816.2:p.(Cys655Trp)	NC_000001.10:g.216462628A>C	VUS	1 lab	56561b2457
1:155580060 MSTO1 G>C	1	155580060	155580060	G	C	MSTO1	c.21G>C	NM_018116.4	NP_060586.2:p.(Glu7Asp)	NC_000001.10:g.155580060G>C	VUS	1 lab	565836e3d4
9:131367309 SPTAN1 T>A	9	131367309	131367309	T	A	SPTAN1	c.3720-4T>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131367309T>A	(Likely) benign	1 lab	0853ccde89
3:93598150 PROS1 A>G	3	93598150	93598150	A	G	PROS1	c.1501T>C	NM_000313.4	NP_000304.2:p.(Ser501Pro)	NC_000003.11:g.93598150A>G	VUS	1 lab	565befbfca
12:49420108 KMT2D C>T	12	49420108	49420108	C	T	KMT2D	c.15641G>A	NM_003482.3	NP_003473.3:p.(Arg5214His)	NC_000012.11:g.49420108C>T	(Likely) pathogenic	1 lab	565d119b89
6:32008544 CYP21A2 G>A	6	32008544	32008544	G	A	CYP21A2	c.1218G>A	NM_000500.9	NP_000491.4:p.(Trp406Ter)	NC_000006.11:g.32008544G>A	(Likely) pathogenic	1 lab	565ef48401
1:200528470 KIF14 A>T	1	200528470	200528470	A	T	KIF14	c.4341T>A	NM_014875.3	NP_055690.1:p.(Cys1447Ter)	NC_000001.10:g.200528470A>T	(Likely) pathogenic	1 lab	085468ac11
9:117849314 TNC T>C	9	117849314	117849314	T	C	TNC	c.696A>G	NM_002160.3	NP_002151.2:p.(Val232=)	NC_000009.11:g.117849314T>C	(Likely) benign	1 lab	56632d9c0c
7:94059623 COL1A2 C>A	7	94059623	94059623	C	A	COL1A2	c.4019C>A	NM_000089.4	NP_000080.2:p.(Pro1340His)	NC_000007.13:g.94059623C>A	VUS	1 lab	56639bb5a6
17:47656459 NXPH3 C>T	17	47656459	47656459	C	T	NXPH3	c.556C>T	NM_007225.2	NP_009156.2:p.(Arg186Cys)	NC_000017.10:g.47656459C>T	VUS	1 lab	5666b71f60
19:1220544 STK11 C>T	19	1220544	1220544	C	T	STK11	c.598-36C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220544C>T	(Likely) benign	1 lab	566bcdb37a
4:16008191 PROM1 A>T	4	16008191	16008191	A	T	PROM1	c.1424T>A	NM_006017.3	NP_006008.1:p.(Val475Asp)	NC_000004.11:g.16008191A>T	(Likely) pathogenic	1 lab	566cdf7c24
12:124841250 NCOR2 C>T	12	124841250	124841250	C	T	NCOR2				NC_000012.11:g.124841250C>T	VUS	1 lab	566ce2ac30
11:111782345 CRYAB G>A	11	111782345	111782345	G	A	CRYAB	c.104C>T	NM_001885.2	NP_001876.1:p.(Ser35Phe)	NC_000011.9:g.111782345G>A	VUS	1 lab	566e764677
21:38853109 DYRK1A G>T	21	38853109	38853109	G	T	DYRK1A	c.497G>T	NM_101395.2	NP_567824.1:p.(Gly166Val)	NC_000021.8:g.38853109G>T	VUS	1 lab	5670bcacf1
1:241671944 FH G>A	1	241671944	241671944	G	A	FH	c.697C>T	NM_000143.3	NP_000134.2:p.(Arg233Cys)	NC_000001.10:g.241671944G>A	(Likely) pathogenic	1 lab	56763b5afb
7:151372744 PRKAG2 A>G	7	151372744	151372744	A	G	PRKAG2	c.467-21T>C	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151372744A>G	(Likely) benign	1 lab	56780653a4
6:64709001 EYS CTG>C	6	64709001	64709004	CTG	C	EYS	c.6799_6800del	NM_001142800.2	NP_001136272.1:p.(Gln2267GlufsTer15)	NC_000006.11:g.64709003_64709004del	(Likely) pathogenic	1 lab	56791e25a0
22:29091803 CHEK2 C>T	22	29091803	29091803	C	T	CHEK2	c.1154G>A	NM_007194.4	NP_009125.1:p.(Cys385Tyr)	NC_000022.10:g.29091803C>T	VUS	1 lab	567caff9d0
1:46656144 POMGNT1 C>T	1	46656144	46656144	C	T	POMGNT1	c.1649+1G>A	NM_017739.4	NP_060209.4:p.?	NC_000001.10:g.46656144C>T	VUS	1 lab	567f90abe2
2:47702205 MSH2 C>T	2	47702205	47702205	C	T	MSH2	c.1801C>T	NM_000251.2	NP_000242.1:p.(Gln601Ter)	NC_000002.11:g.47702205C>T	(Likely) pathogenic	1 lab	5683278f33
2:47698109 MSH2 T>A	2	47698109	47698109	T	A	MSH2	c.1667T>A	NM_000251.3	NP_000242.1:p.(Leu556Ter)	NC_000002.11:g.47698109T>A	(Likely) pathogenic	1 lab	5684ca26b5
19:54627160 PRPF31 T>C	19	54627160	54627160	T	C	PRPF31	c.560T>C	NM_015629.3	NP_056444.3:p.(Leu187Pro)	NC_000019.9:g.54627160T>C	VUS	1 lab	56865999b4
4:120057680 MYOZ2 C>CA	4	120057680	120057681	C	CA	MYOZ2				NC_000004.11:g.120057681dup	(Likely) benign	1 lab	56898dc159
10:69935097 MYPN C>T	10	69935097	69935097	C	T	MYPN	c.2582C>T	NM_032578.3	NP_115967.2:p.(Ala861Val)	NC_000010.10:g.69935097C>T	(Likely) benign	1 lab	568aceaa5e
3:37090403 MLH1 G>A	3	37090403	37090403	G	A	MLH1	c.1998G>A	NM_000249.3	NP_000240.1:p.(Trp666Ter)	NC_000003.11:g.37090403G>A	(Likely) pathogenic	1 lab	568b958a87
14:75283896 YLPM1 G>A	14	75283896	75283896	G	A	YLPM1	c.5863-1G>A	NM_019589.3	NP_062535.2:p.?	NC_000014.8:g.75283896G>A	VUS	1 lab	568e2952c1
9:130438947 STXBP1 A>G	9	130438947	130438947	A	G	STXBP1	c.1274A>G	NM_003165.3	NP_003156.1:p.(Lys425Arg)	NC_000009.11:g.130438947A>G	(Likely) pathogenic	1 lab	5691dbab4e
6:51924836 PKHD1 G>A	6	51924836	51924836	G	A	PKHD1	c.1123C>T	NM_138694.3	NP_619639.3:p.(Arg375Trp)	NC_000006.11:g.51924836G>A	(Likely) pathogenic	1 lab	5692096991
1:1168565 B3GALT6 G>A	1	1168565	1168565	G	A	B3GALT6	c.907G>A	NM_080605.3	NP_542172.2:p.(Glu303Lys)	NC_000001.10:g.1168565G>A	VUS	1 lab	5694b9324f
8:38272407 FGFR1 C>A	8	38272407	38272407	C	A	FGFR1	c.1867G>T	NM_023110.3	NP_075598.2:p.(Asp623Tyr)	NC_000008.10:g.38272407C>A	(Likely) pathogenic	1 lab	5695fee9d8
21:35884633 KCNE1 G>A	21	35884633	35884633	G	A	KCNE1				NC_000021.8:g.35884633G>A	(Likely) benign	1 lab	5703df7dbc
X:107939570 COL4A5 C>T	X	107939570	107939570	C	T	COL4A5	c.5038C>T	NM_033380.2	NP_203699.1:p.(Arg1680Ter)	NC_000023.10:g.107939570C>T	(Likely) pathogenic	1 lab	5696113838
19:35524755 SCN1B G>A	19	35524755	35524755	G	A	SCN1B	c.560G>A	NM_199037.5	NP_950238.1:p.(Arg187His)	NC_000019.9:g.35524755G>A	(Likely) benign	1 lab	5697d15a15
5:172661732 NKX2-5 G>A	5	172661732	172661732	G	A	NKX2-5	c.334+21C>T	NM_004387.3	NP_004378.1:p.?	NC_000005.9:g.172661732G>A	(Likely) benign	1 lab	56983926c7
1:216348589 USH2A C>T	1	216348589	216348589	C	T	USH2A	c.4627+5G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216348589C>T	VUS	1 lab	5698dab5e8
3:121720640 ILDR1 C>T	3	121720640	121720640	C	T	ILDR1	c.451G>A	NM_001199799.2	NP_001186728.1:p.(Gly151Arg)	NC_000003.11:g.121720640C>T	VUS	1 lab	5699388b97
1:216424433 USH2A C>A	1	216424433	216424433	C	A	USH2A	c.1979G>T	NM_206933.2	NP_996816.2:p.(Gly660Val)	NC_000001.10:g.216424433C>A	VUS	1 lab	569c9bd5b7
20:25371378 ABHD12 G>GGCCTCCGCC	20	25371378	25371383	G	GGCCTCCGCC	ABHD12	c.-40_-39insGGCGGAGGC	NM_015600.4	NP_056415.1:p.?	NC_000020.10:g.25371382_25371383insCCGCCGCCT	(Likely) benign	1 lab	56a2c5356b
15:73027500 BBS4 C>A	15	73027500	73027500	C	A	BBS4	c.1083C>A	NM_033028.4	NP_149017.2:p.(Tyr361Ter)	NC_000015.9:g.73027500C>A	(Likely) pathogenic	1 lab	56a3faf319
12:52115584 SCN8A C>G	12	52115584	52115584	C	G	SCN8A	c.1890C>G	NM_014191.3	NP_055006.1:p.(Phe630Leu)	NC_000012.11:g.52115584C>G	(Likely) benign	1 lab	56a4e7beb4
11:64521480 PYGM C>T	11	64521480	64521480	C	T	PYGM	c.1110G>A	NM_005609.4	NP_005600.1:p.(Val370=)	NC_000011.9:g.64521480C>T	VUS	1 lab	56a75d7c75
2:39283926 SOS1 T>C	2	39283926	39283926	T	C	SOS1	c.427A>G	NM_005633.4	NP_005624.2:p.(Lys143Glu)	NC_000002.11:g.39283926T>C	VUS	1 lab	56adb62ee5
11:108098561 ATM A>C	11	108098561	108098561	A	C	ATM	c.131A>C	NM_000051.4	NP_000042.3:p.(Asp44Ala)	NC_000011.9:g.108098561A>C	VUS	1 lab	56af7b24a2
9:5090566 JAK2 G>C	9	5090566	5090566	G	C	JAK2	c.2882G>C	NM_004972.3	NP_004963.1:p.(Cys961Ser)	NC_000009.11:g.5090566G>C	VUS	1 lab	56afb0d698
2:179411503 TTN A>G	2	179411503	179411503	A	G	TTN	c.94652T>C	NM_001267550.2	NP_001254479.2:p.(Val31551Ala)	NC_000002.11:g.179411503A>G	(Likely) benign	1 lab	56b3b2a8e5
X:15870494 AP1S2 G>A	X	15870494	15870494	G	A	AP1S2	c.154C>T	NM_003916.3	NP_003907.3:p.(Arg52Ter)	NC_000023.10:g.15870494G>A	(Likely) pathogenic	1 lab	56b8b19abf
1:45806103 MUTYH A>G	1	45806103	45806103	A	G	MUTYH	c.-177T>C	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45806103A>G	(Likely) benign	1 lab	56bb2c03f9
2:238268762 COL6A3 A>T	2	238268762	238268762	A	T	COL6A3	c.6251T>A	NM_004369.3	NP_004360.2:p.(Phe2084Tyr)	NC_000002.11:g.238268762A>T	VUS	1 lab	56bbd58f6c
5:112170865 APC A>G	5	112170865	112170865	A	G	APC	c.1958+3A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112170865A>G	(Likely) pathogenic	1 lab	56c1c9197f
9:98231047 PTCH1 T>A	9	98231047	98231047	T	A	PTCH1				NC_000009.11:g.98231047T>A	(Likely) pathogenic	1 lab	56c23380ef
X:69774548 TEX11 A>G	X	69774548	69774548	A	G	TEX11	c.2243T>C	NM_031276.3	NP_112566.2:p.(Val748Ala)	NC_000023.10:g.69774548A>G	VUS	1 lab	56c4656ae3
7:128489378 FLNC A>G	7	128489378	128489378	A	G	FLNC	c.4952-7A>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128489378A>G	(Likely) benign	1 lab	56c57a34b9
15:59516875 MYO1E C>T	15	59516875	59516875	C	T	MYO1E	c.777+13G>A	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59516875C>T	(Likely) benign	1 lab	56c9c04d23
18:29115233 DSG2 A>G	18	29115233	29115233	A	G	DSG2	c.1281A>G	NM_001943.5	NP_001934.2:p.(Arg427=)	NC_000018.9:g.29115233A>G	(Likely) benign	1 lab	56cce2f6f5
16:11643561 LITAF C>G	16	11643561	11643561	C	G	LITAF	c.418G>C	NM_001136472.2	NP_001129944.1:p.(Ala140Pro)	NC_000016.9:g.11643561C>G	VUS	1 lab	56cd5e1ba7
15:85411388 ALPK3 T>C	15	85411388	85411388	T	C	ALPK3	c.4819T>C	NM_020778.5	NP_065829.4:p.(Phe1607Leu)	NC_000015.9:g.85411388T>C	VUS	1 lab	56d8dda71e
2:179644793 TTN TTCTTTTTCATAC>T	2	179644793	179644819	TTCTTTTTCATAC	T	TTN	c.3651_3662del	NM_001267550.2	NP_001254479.2:p.(Tyr1218_Glu1221del)	NC_000002.11:g.179644808_179644819del	VUS	1 lab	56da8fe4a4
X:49075815 CACNA1F C>T	X	49075815	49075815	C	T	CACNA1F	c.2671G>A	NM_005183.2	NP_005174.2:p.(Glu891Lys)	NC_000023.10:g.49075815C>T	VUS	1 lab	56daacc6d5
1:181732660 CACNA1E C>T	1	181732660	181732660	C	T	CACNA1E	c.4808C>T	NM_001205293.1	NP_001192222.1:p.(Ser1603Phe)	NC_000001.10:g.181732660C>T	VUS	1 lab	56ddbcd3d9
12:6061593 VWF G>A	12	6061593	6061593	G	A	VWF	c.8079C>T	NM_000552.3	NP_000543.2:p.(Cys2693=)	NC_000012.11:g.6061593G>A	(Likely) benign	1 lab	56e0c4e2c6
15:75694229 SIN3A CGA>C	15	75694229	75694235	CGA	C	SIN3A				NC_000015.9:g.75694234_75694235del	(Likely) pathogenic	1 lab	56e241db3f
1:237753073 RYR2 GA>G	1	237753073	237753074	GA	G	RYR2	c.3599-19del	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237753074del	(Likely) benign	1 lab	56e51fc888
11:108214175 ATM T>C	11	108214175	108214175	T	C	ATM	c.8418+77T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108214175T>C	(Likely) benign	1 lab	56e52c241d
11:72019652 CLPB C>T	11	72019652	72019652	C	T	CLPB	c.1079-4G>A	NM_030813.6	NP_110440.1:p.?	NC_000011.9:g.72019652C>T	(Likely) benign	1 lab	08586d68b8
2:166245498 SCN2A C>T	2	166245498	166245498	C	T	SCN2A	c.5182C>T	NM_021007.3	NP_066287.2:p.(Pro1728Ser)	NC_000002.11:g.166245498C>T	(Likely) pathogenic	1 lab	08592190bc
8:23563987 NKX2-6 T>C	8	23563987	23563987	T	C	NKX2-6	c.125A>G	NM_001136271.2	NP_001129743.2:p.(Gln42Arg)	NC_000008.10:g.23563987T>C	(Likely) benign	1 lab	56eacd4ab9
16:23641033 PALB2 C>T	16	23641033	23641033	C	T	PALB2	c.2442G>A	NM_024675.3	NP_078951.2:p.(Glu814=)	NC_000016.9:g.23641033C>T	(Likely) benign	1 lab	56ecce5ff5
2:179411604 TTN A>C	2	179411604	179411604	A	C	TTN	c.94551T>G	NM_001267550.2	NP_001254479.2:p.(Asp31517Glu)	NC_000002.11:g.179411604A>C	VUS	1 lab	56ece54287
3:38991598 SCN11A G>C	3	38991598	38991598	G	C	SCN11A	c.256C>G	NM_014139.2	NP_054858.2:p.(Arg86Gly)	NC_000003.11:g.38991598G>C	(Likely) benign	1 lab	56ef32db24
6:112450130 LAMA4 AT>A	6	112450130	112450132	AT	A	LAMA4	c.4280del	NM_001105206.2	NP_001098676.2:p.(Asn1427IlefsTer18)	NC_000006.11:g.112450132del	VUS	1 lab	56efa3855c
1:204124998 REN G>A	1	204124998	204124998	G	A	REN	c.1009C>T	NM_000537.4	NP_000528.1:p.(His337Tyr)	NC_000001.10:g.204124998G>A	(Likely) benign	1 lab	085c1320c8
2:215617295 BARD1 C>T	2	215617295	215617295	C	T	BARD1	c.1569-16G>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215617295C>T	(Likely) benign	1 lab	56efcce686
17:29559206 NF1 A>T	17	29559206	29559206	A	T	NF1	c.3313A>T	NM_001042492.3	NP_001035957.1:p.(Lys1105Ter)	NC_000017.10:g.29559206A>T	(Likely) pathogenic	1 lab	56f23b131f
7:128612499 TNPO3 T>C	7	128612499	128612499	T	C	TNPO3	c.2411A>G	NM_012470.4	NP_036602.1:p.(His804Arg)	NC_000007.13:g.128612499T>C	VUS	1 lab	56f3fad582
X:152991021 ABCD1 C>G	X	152991021	152991021	C	G	ABCD1	c.300C>G	NM_000033.3	NP_000024.2:p.(Ala100=)	NC_000023.10:g.152991021C>G	VUS	1 lab	56f643552a
1:237890465 RYR2 T>A	1	237890465	237890465	T	A	RYR2	c.10804T>A	NM_001035.2	NP_001026.2:p.(Cys3602Ser)	NC_000001.10:g.237890465T>A	VUS	1 lab	56f747ef93
14:23900098 MYH7 G>C	14	23900098	23900098	G	C	MYH7	c.895+12C>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900098G>C	(Likely) benign	1 lab	56faf55e07
X:100653819 GLA C>G	X	100653819	100653819	C	G	GLA	c.755G>C	NM_000169.2	NP_000160.1:p.(Arg252Thr)	NC_000023.10:g.100653819C>G	(Likely) benign	1 lab	56fca46658
X:49086976 CACNA1F C>T	X	49086976	49086976	C	T	CACNA1F	c.617G>A	NM_005183.4	NP_005174.2:p.(Arg206Lys)	NC_000023.10:g.49086976C>T	VUS	1 lab	56fcc340a8
14:99642083 BCL11B AG>A	14	99642083	99642084	AG	A	BCL11B	c.1089del	NM_138576.4	NP_612808.1:p.(Ser364ArgfsTer29)	NC_000014.8:g.99642084del	(Likely) pathogenic	1 lab	56fe451e6d
14:31354583 COCH T>C	14	31354583	31354583	T	C	COCH	c.734-17T>C	NM_004086.2	NP_004077.1:p.?	NC_000014.8:g.31354583T>C	(Likely) benign	1 lab	570a1e1b91
19:6678222 C3 C>T	19	6678222	6678222	C	T	C3				NC_000019.9:g.6678222C>T	(Likely) benign	1 lab	570b3de8c9
9:98229498 PTCH1 G>C	9	98229498	98229498	G	C	PTCH1	c.2460C>G	NM_000264.3	NP_000255.2:p.(Tyr820Ter)	NC_000009.11:g.98229498G>C	(Likely) pathogenic	1 lab	571076f130
11:31823315 PAX6 C>T	11	31823315	31823315	C	T	PAX6	c.151G>A	NM_000280.4	NP_000271.1:p.(Gly51Arg)	NC_000011.9:g.31823315C>T	(Likely) pathogenic	1 lab	5716be5646
3:10183771 VHL T>G	3	10183771	10183771	T	G	VHL	c.240T>G	NM_000551.3	NP_000542.1:p.(Ser80Arg)	NC_000003.11:g.10183771T>G	(Likely) pathogenic	1 lab	571be91f80
9:36246131 GNE C>T	9	36246131	36246131	C	T	GNE	c.513G>A	NM_005476.7	NP_005467.1:p.(Met171Ile)	NC_000009.11:g.36246131C>T	VUS	1 lab	571c2b72ab
1:158582838 SPTA1 G>C	1	158582838	158582838	G	C	SPTA1	c.6990-87C>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158582838G>C	(Likely) benign	1 lab	085f718997
16:31497505 SLC5A2 C>T	16	31497505	31497505	C	T	SLC5A2	c.483C>T	NM_003041.3	NP_003032.1:p.(Ser161=)	NC_000016.9:g.31497505C>T	(Likely) benign	1 lab	571d77e37f
18:45371865 SMAD2 A>G	18	45371865	45371865	A	G	SMAD2	c.1136-10T>C	NM_001003652.3	NP_001003652.1:p.?	NC_000018.9:g.45371865A>G	(Likely) benign	1 lab	5722ff23c8
10:112572149 RBM20 C>G	10	112572149	112572149	C	G	RBM20	c.1994C>G	NM_001134363.3	NP_001127835.2:p.(Ser665Cys)	NC_000010.10:g.112572149C>G	(Likely) benign	1 lab	57247ce95e
12:133253184 POLE G>C	12	133253184	133253184	G	C	POLE	c.857C>G	NM_006231.4	NP_006222.2:p.(Pro286Arg)	NC_000012.11:g.133253184G>C	(Likely) pathogenic	1 lab	57266b1143
X:79959041 BRWD3 G>A	X	79959041	79959041	G	A	BRWD3	c.2773C>T	NM_153252.5	NP_694984.5:p.(Pro925Ser)	NC_000023.10:g.79959041G>A	VUS	1 lab	572b020ee6
15:89386813 ACAN T>TA	15	89386813	89386814	T	TA	ACAN	c.986dup	NM_001369268.1	NP_001356197.1:p.(Tyr329Ter)	NC_000015.9:g.89386814dup	(Likely) pathogenic	1 lab	572b9c500f
21:34924271 SON G>C	21	34924271	34924271	G	C	SON	c.2734G>C	NM_138927.4	NP_620305.3:p.(Asp912His)	NC_000021.8:g.34924271G>C	VUS	1 lab	0e1a1fcd89
X:153457259 OPN1MW T>C	X	153457259	153457259	T	C	OPN1MW	c.659T>C	NM_000513.2	NP_000504.1:p.(Met220Thr)	NC_000023.10:g.153457259T>C	VUS	1 lab	572c268752
13:32937302 BRCA2 G>C	13	32937302	32937302	G	C	BRCA2	c.7977-14G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937302G>C	(Likely) benign	1 lab	572f83011a
3:127323567 MCM2 G>A	3	127323567	127323567	G	A	MCM2	c.353G>A	NM_004526.3	NP_004517.2:p.(Arg118Gln)	NC_000003.11:g.127323567G>A	VUS	1 lab	57318a7940
5:68805523 OCLN G>T	5	68805523	68805523	G	T	OCLN	c.606G>T	NM_001205254.1	NP_001192183.1:p.(Gln202His)	NC_000005.9:g.68805523G>T	VUS	1 lab	57327b06ee
7:128475447 FLNC C>A	7	128475447	128475447	C	A	FLNC	c.420C>A	NM_001458.4	NP_001449.3:p.(His140Gln)	NC_000007.13:g.128475447C>A	VUS	1 lab	57378ac9fc
2:179458461 TTN C>T	2	179458461	179458461	C	T	TTN	c.58566G>A	NM_001267550.2	NP_001254479.2:p.(Val19522=)	NC_000002.11:g.179458461C>T	(Likely) benign	1 lab	573794290d
17:42929842 EFTUD2 C>A	17	42929842	42929842	C	A	EFTUD2	c.2650G>T	NM_004247.3	NP_004238.3:p.(Glu884Ter)	NC_000017.10:g.42929842C>A	(Likely) pathogenic	1 lab	573a17960e
7:50607624 DDC C>A	7	50607624	50607624	C	A	DDC	c.304G>T	NM_000790.3	NP_000781.1:p.(Gly102Cys)	NC_000007.13:g.50607624C>A	VUS	1 lab	573ae94c57
1:201333494 TNNT2 G>A	1	201333494	201333494	G	A	TNNT2	c.421C>T	NM_001276345.2	NP_001263274.1:p.(Arg141Trp)	NC_000001.10:g.201333494G>A	(Likely) pathogenic	1 lab	573cae2610
16:1245361 CACNA1H C>T	16	1245361	1245361	C	T	CACNA1H	c.412-71C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1245361C>T	(Likely) benign	1 lab	0861e08163
10:89720669 PTEN T>G	10	89720669	89720669	T	G	PTEN	c.820T>G	NM_000314.4	NP_000305.3:p.(Trp274Gly)	NC_000010.10:g.89720669T>G	(Likely) pathogenic	1 lab	57443a6e8c
17:79478095 ACTG1 G>C	17	79478095	79478095	G	C	ACTG1	c.842C>G	NM_001614.3	NP_001605.1:p.(Ser281Cys)	NC_000017.10:g.79478095G>C	(Likely) pathogenic	1 lab	57462b9acf
5:112175769 APC CGG>C	5	112175769	112175771	CGG	C	APC	c.4479_4480del	NM_000038.6	NP_000029.2:p.(Glu1494LysfsTer19)	NC_000005.9:g.112175770_112175771del	(Likely) pathogenic	1 lab	5747280465
6:76580394 MYO6 C>T	6	76580394	76580394	C	T	MYO6				NC_000006.11:g.76580394C>T	(Likely) pathogenic	1 lab	5747685a27
17:10432042 MYH2 G>A	17	10432042	10432042	G	A	MYH2	c.3709C>T	NM_001100112.1	NP_001093582.1:p.(Leu1237Phe)	NC_000017.10:g.10432042G>A	(Likely) benign	1 lab	574900800c
17:41277341 BRCA1 G>C	17	41277341	41277341	G	C	BRCA1	c.-73C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277341G>C	(Likely) benign	1 lab	574d09f392
13:32889593 BRCA2 G>A	13	32889593	32889593	G	A	BRCA2				NC_000013.10:g.32889593G>A	(Likely) benign	1 lab	574d2075e3
22:38541475 PLA2G6 C>T	22	38541475	38541475	C	T	PLA2G6	c.395G>A	NM_003560.3	NP_003551.2:p.(Arg132His)	NC_000022.10:g.38541475C>T	VUS	1 lab	574d9ce623
1:12058936 MFN2 G>T	1	12058936	12058936	G	T	MFN2	c.708+1G>T	NM_014874.3	NP_055689.1:p.?	NC_000001.10:g.12058936G>T	(Likely) pathogenic	1 lab	574df03fa0
2:166893165 SCN1A C>A	2	166893165	166893165	C	A	SCN1A	c.2947-125G>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166893165C>A	(Likely) benign	1 lab	0862eaf991
X:107841961 COL4A5 T>TC	X	107841961	107841966	T	TC	COL4A5	c.1814dup	NM_033380.2	NP_203699.1:p.(Gly606TrpfsTer28)	NC_000023.10:g.107841966dup	(Likely) pathogenic	1 lab	576751333d
16:19083354 COQ7 G>A	16	19083354	19083354	G	A	COQ7				NC_000016.9:g.19083354G>A	VUS	1 lab	576a9446d5
2:165956845 SCN3A A>G	2	165956845	165956845	A	G	SCN3A	c.3933T>C	NM_006922.4	NP_008853.3:p.(Pro1311=)	NC_000002.11:g.165956845A>G	(Likely) benign	1 lab	576b83c405
5:176942740 DDX41 C>T	5	176942740	176942740	C	T	DDX41	c.517G>A	NM_016222.2	NP_057306.2:p.(Gly173Arg)	NC_000005.9:g.176942740C>T	VUS	1 lab	576ed50b05
11:118307487 KMT2A C>A	11	118307487	118307487	C	A	KMT2A	c.260C>A	NM_001197104.2	NP_001184033.1:p.(Ser87Ter)	NC_000011.9:g.118307487C>A	(Likely) pathogenic	1 lab	57723a9497
18:29101185 DSG2 G>T	18	29101185	29101185	G	T	DSG2	c.502G>T	NM_001943.3	NP_001934.2:p.(Val168Phe)	NC_000018.9:g.29101185G>T	VUS	1 lab	5772c1c816
2:227973338 COL4A4 C>G	2	227973338	227973338	C	G	COL4A4	c.694G>C	NM_000092.4	NP_000083.3:p.(Gly232Arg)	NC_000002.11:g.227973338C>G	(Likely) pathogenic	1 lab	5775f54d65
13:101759893 NALCN G>A	13	101759893	101759893	G	A	NALCN	c.2524C>T	NM_052867.2	NP_443099.1:p.(Arg842Ter)	NC_000013.10:g.101759893G>A	(Likely) pathogenic	1 lab	57784a2036
4:155487714 FGB T>A	4	155487714	155487714	T	A	FGB	c.380T>A	NM_005141.5	NP_005132.2:p.(Val127Asp)	NC_000004.11:g.155487714T>A	VUS	1 lab	577b155c08
2:166012281 SCN3A A>G	2	166012281	166012281	A	G	SCN3A	c.1164T>C	NM_006922.4	NP_008853.3:p.(Leu388=)	NC_000002.11:g.166012281A>G	(Likely) benign	1 lab	577f0b5ea8
3:12641703 RAF1 G>A	3	12641703	12641703	G	A	RAF1				NC_000003.11:g.12641703G>A	(Likely) benign	1 lab	5b50b8b6fc
17:59761030 BRIP1 TCTG>T	17	59761030	59761035	TCTG	T	BRIP1	c.3374_3376del	NM_032043.3	NP_114432.2:p.(Ala1125del)	NC_000017.10:g.59761033_59761035del	VUS	1 lab	57864ff0d4
7:151292538 PRKAG2 C>CT	7	151292538	151292539	C	CT	PRKAG2	c.756dup	NM_016203.3	NP_057287.2:p.(Val253SerfsTer20)	NC_000007.13:g.151292539dup	VUS	1 lab	578656bb8c
X:76891438 ATRX A>G	X	76891438	76891438	A	G	ATRX	c.4667T>C	NM_000489.6	NP_000480.3:p.(Met1556Thr)	NC_000023.10:g.76891438A>G	VUS	1 lab	57886d7603
2:179453801 TTN C>A	2	179453801	179453801	C	A	TTN	c.62651G>T	NM_001267550.2	NP_001254479.2:p.(Cys20884Phe)	NC_000002.11:g.179453801C>A	VUS	1 lab	578b0d9648
13:20716652 GJA3 G>T	13	20716652	20716652	G	T	GJA3	c.776C>A	NM_021954.4	NP_068773.2:p.(Ser259Tyr)	NC_000013.10:g.20716652G>T	VUS	1 lab	578df1bcc5
17:18051840 MYO15A G>C	17	18051840	18051840	G	C	MYO15A				NC_000017.10:g.18051840G>C	VUS	1 lab	579266a951
4:167020655 TLL1 G>A	4	167020655	167020655	G	A	TLL1	c.2883G>A	NM_012464.4	NP_036596.3:p.(Gly961=)	NC_000004.11:g.167020655G>A	(Likely) benign	1 lab	57931fd463
1:225591019 LBR G>T	1	225591019	225591019	G	T	LBR	c.1834C>A	NM_002296.4	NP_002287.2:p.(Pro612Thr)	NC_000001.10:g.225591019G>T	(Likely) pathogenic	1 lab	5794aaba9a
5:140073855 HARS2 A>G	5	140073855	140073855	A	G	HARS2	c.389A>G	NM_012208.3	NP_036340.1:p.(Tyr130Cys)	NC_000005.9:g.140073855A>G	VUS	1 lab	5794eacf0a
9:130439037 STXBP1 G>C	9	130439037	130439037	G	C	STXBP1				NC_000009.11:g.130439037G>C	(Likely) pathogenic	1 lab	5794fec462
17:46804358 HOXB13 G>A	17	46804358	46804358	G	A	HOXB13	c.649C>T	NM_006361.6	NP_006352.2:p.(Arg217Cys)	NC_000017.10:g.46804358G>A	VUS	1 lab	57971f0672
16:23646770 PALB2 T>C	16	23646770	23646770	T	C	PALB2	c.1097A>G	NM_024675.3	NP_078951.2:p.(Asn366Ser)	NC_000016.9:g.23646770T>C	(Likely) benign	1 lab	579a157adb
1:228565293 OBSCN G>A	1	228565293	228565293	G	A	OBSCN	c.26254G>A	NM_001271223.2	NP_001258152.2:p.(Glu8752Lys)	NC_000001.10:g.228565293G>A	(Likely) benign	1 lab	579ff0872c
16:58565944 CNOT1 G>C	16	58565944	58565944	G	C	CNOT1	c.6095C>G	NM_016284.4	NP_057368.3:p.(Pro2032Arg)	NC_000016.9:g.58565944G>C	VUS	1 lab	57a0f5bdfb
X:107842055 COL4A5 G>C	X	107842055	107842055	G	C	COL4A5	c.1903G>C	NM_033380.2	NP_203699.1:p.(Gly635Arg)	NC_000023.10:g.107842055G>C	(Likely) pathogenic	1 lab	57a2b5e426
5:176072243 EIF4E1B C>T	5	176072243	176072243	C	T	EIF4E1B	c.473C>T	NM_001099408.2	NP_001092878.1:p.(Thr158Met)	NC_000005.9:g.176072243C>T	(Likely) benign	1 lab	0869c422ba
2:164467548 FIGN C>A	2	164467548	164467548	C	A	FIGN	c.794G>T	NM_018086.2	NP_060556.2:p.(Gly265Val)	NC_000002.11:g.164467548C>A	VUS	1 lab	57a45031a7
17:59557677 TBX4 C>T	17	59557677	59557677	C	T	TBX4	c.1018C>T	NM_001321120.2	NP_001308049.1:p.(Arg340Ter)	NC_000017.10:g.59557677C>T	(Likely) pathogenic	1 lab	57a52558d3
19:8174267 FBN3 G>A	19	8174267	8174267	G	A	FBN3	c.4462C>T	NM_032447.5	NP_115823.3:p.(Arg1488Trp)	NC_000019.9:g.8174267G>A	VUS	1 lab	57a56624dd
3:70005608 MITF G>T	3	70005608	70005608	G	T	MITF	c.637G>T	NM_000248.3	NP_000239.1:p.(Glu213Ter)	NC_000003.11:g.70005608G>T	(Likely) pathogenic	1 lab	57a6c6f3bf
7:6013008 PMS2 T>C	7	6013008	6013008	T	C	PMS2	c.*22A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6013008T>C	(Likely) benign	1 lab	57a908977b
19:3980695 EEF2 C>T	19	3980695	3980695	C	T	EEF2	c.1163G>A	NM_001961.3	NP_001952.1:p.(Cys388Tyr)	NC_000019.9:g.3980695C>T	VUS	1 lab	57aa9f1b32
15:48755293 FBN1 G>A	15	48755293	48755293	G	A	FBN1	c.5210C>T	NM_000138.5	NP_000129.3:p.(Pro1737Leu)	NC_000015.9:g.48755293G>A	VUS	1 lab	57acfa8e2d
7:4830467 AP5Z1 T>C	7	4830467	4830467	T	C	AP5Z1				NC_000007.13:g.4830467T>C	(Likely) pathogenic	1 lab	57af3277cb
8:31004995 WRN A>C	8	31004995	31004995	A	C	WRN				NC_000008.10:g.31004995A>C	VUS	1 lab	57b1161f20
13:113803829 F10 T>TG	13	113803829	113803830	T	TG	F10	c.1466dup	NM_000504.3	NP_000495.1:p.(Ter489TrpextTer?)	NC_000013.10:g.113803830dup	VUS	1 lab	57b11cc509
11:31823233 PAX6 A>G	11	31823233	31823233	A	G	PAX6	c.233T>C	NM_000280.6	NP_000271.1:p.(Val78Ala)	NC_000011.9:g.31823233A>G	VUS	1 lab	57b21c3902
4:1808523 FGFR3 G>A	4	1808523	1808523	G	A	FGFR3	c.2169-33G>A	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1808523G>A	(Likely) benign	1 lab	57b3aca225
1:103345430 COL11A1 G>T	1	103345430	103345430	G	T	COL11A1	c.5083C>A	NM_001854.3	NP_001845.3:p.(Gln1695Lys)	NC_000001.10:g.103345430G>T	(Likely) benign	1 lab	57b422546a
4:128878655 MFSD8 C>T	4	128878655	128878655	C	T	MFSD8	c.154+1G>A	NM_152778.2	NP_689991.1:p.?	NC_000004.11:g.128878655C>T	(Likely) pathogenic	1 lab	57b73b648c
X:99662912 PCDH19 C>T	X	99662912	99662912	C	T	PCDH19	c.684G>A	NM_001184880.2	NP_001171809.1:p.(Val228=)	NC_000023.10:g.99662912C>T	(Likely) benign	1 lab	57bd427a4e
7:6048743 PMS2 C>A	7	6048743	6048743	C	A	PMS2				NC_000007.13:g.6048743C>A	(Likely) benign	1 lab	57bf9d6007
14:76957789 ESRRB G>A	14	76957789	76957789	G	A	ESRRB	c.788-1G>A	NM_004452.3	NP_004443.3:p.?	NC_000014.8:g.76957789G>A	(Likely) pathogenic	1 lab	57bfc63e1f
X:108926526 ACSL4 G>A	X	108926526	108926526	G	A	ACSL4	c.67C>T	NM_001318510.2	NP_001305439.1:p.(His23Tyr)	NC_000023.10:g.108926526G>A	VUS	1 lab	57c5c88c9c
18:21132517 NPC1 G>A	18	21132517	21132517	G	A	NPC1	c.1554-826C>T	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21132517G>A	(Likely) benign	1 lab	57c8d3047b
8:43037363 HGSNAT A>G	8	43037363	43037363	A	G	HGSNAT	c.1088A>G	NM_152419.3	NP_689632.2:p.(Glu363Gly)	NC_000008.10:g.43037363A>G	VUS	1 lab	57ca280d75
4:134084177 PCDH10 G>A	4	134084177	134084177	G	A	PCDH10	c.2843G>A	NM_032961.2	NP_116586.1:p.(Gly948Asp)	NC_000004.11:g.134084177G>A	VUS	1 lab	57cae241c5
13:32890637 BRCA2 A>G	13	32890637	32890637	A	G	BRCA2	c.40A>G	NM_000059.3	NP_000050.2:p.(Ile14Val)	NC_000013.10:g.32890637A>G	(Likely) benign	1 lab	57cf842c47
17:62021117 SCN4A G>T	17	62021117	62021117	G	T	SCN4A	c.4006C>A	NM_000334.4	NP_000325.4:p.(Pro1336Thr)	NC_000017.10:g.62021117G>T	VUS	1 lab	57d026bb48
19:50209635 CPT1C C>T	19	50209635	50209635	C	T	CPT1C	c.1308C>T	NM_001199752.2	NP_001186681.1:p.(Tyr436=)	NC_000019.9:g.50209635C>T	VUS	1 lab	57d278c963
2:241722504 KIF1A G>A	2	241722504	241722504	G	A	KIF1A	c.821C>T	NM_001244008.1	NP_001230937.1:p.(Ser274Leu)	NC_000002.11:g.241722504G>A	(Likely) pathogenic	1 lab	57d304ac1a
4:1804785 FGFR3 C>T	4	1804785	1804785	C	T	FGFR3	c.1075C>T	NM_001163213.1	NP_001156685.1:p.(Arg359Ter)	NC_000004.11:g.1804785C>T	VUS	1 lab	57d457524d
X:591525 SHOX C>A	X	591525	591525	C	A	SHOX	c.-108C>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591525C>A	(Likely) benign	1 lab	57d474bf39
2:16086016 MYCN C>T	2	16086016	16086016	C	T	MYCN	c.1192C>T	NM_005378.4	NP_005369.2:p.(Arg398Trp)	NC_000002.11:g.16086016C>T	(Likely) pathogenic	1 lab	57d50b0a55
12:32945308 PKP2 G>GT	12	32945308	32945309	G	GT	PKP2	c.*49_*50insA	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945308_32945309insT	(Likely) benign	1 lab	57d887210f
15:23889919 MAGEL2 CG>C	15	23889919	23889922	CG	C	MAGEL2	c.2970del	NM_019066.5	NP_061939.3:p.(Val991Ter)	NC_000015.9:g.23889922del	(Likely) pathogenic	1 lab	57d8d394ac
5:90059273 ADGRV1 T>C	5	90059273	90059273	T	C	ADGRV1	c.12272T>C	NM_032119.4	NP_115495.3:p.(Leu4091Pro)	NC_000005.9:g.90059273T>C	VUS	1 lab	57da498c27
5:112173285 APC T>A	5	112173285	112173285	T	A	APC	c.1994T>A	NM_000038.6	NP_000029.2:p.(Leu665Ter)	NC_000005.9:g.112173285T>A	(Likely) pathogenic	1 lab	57db6b2973
2:47657024 MSH2 T>G	2	47657024	47657024	T	G	MSH2	c.1220T>G	NM_000251.3	NP_000242.1:p.(Leu407Arg)	NC_000002.11:g.47657024T>G	VUS	1 lab	57e13f8d19
3:100963101 IMPG2 CT>C	3	100963101	100963102	CT	C	IMPG2	c.2073del	NM_016247.3	NP_057331.2:p.(Asp692IlefsTer9)	NC_000003.11:g.100963102del	(Likely) pathogenic	1 lab	57e1567c95
17:18075497 MYO15A G>A	17	18075497	18075497	G	A	MYO15A	c.10243G>A	NM_016239.4	NP_057323.3:p.(Gly3415Ser)	NC_000017.10:g.18075497G>A	VUS	1 lab	57e2ec3017
14:76045723 FLVCR2 TC>T	14	76045723	76045724	TC	T	FLVCR2	c.409del	NM_017791.3	NP_060261.2:p.(Leu137CysfsTer31)	NC_000014.8:g.76045724del	(Likely) pathogenic	1 lab	57e451d8e3
10:73490310 CDH23 G>A	10	73490310	73490310	G	A	CDH23	c.3664G>A	NM_022124.5	NP_071407.4:p.(Ala1222Thr)	NC_000010.10:g.73490310G>A	(Likely) benign	1 lab	57e50255c3
8:141557718 AGO2 T>C	8	141557718	141557718	T	C	AGO2	c.1597A>G	NM_012154.5	NP_036286.2:p.(Lys533Glu)	NC_000008.10:g.141557718T>C	VUS	1 lab	57e8017999
16:16284139 ABCC6 C>T	16	16284139	16284139	C	T	ABCC6	c.1517G>A	NM_001171.5	NP_001162.4:p.(Trp506Ter)	NC_000016.9:g.16284139C>T	(Likely) pathogenic	1 lab	57ed2ce489
10:89711994 PTEN A>G	10	89711994	89711994	A	G	PTEN	c.612A>G	NM_000314.4	NP_000305.3:p.(Pro204=)	NC_000010.10:g.89711994A>G	(Likely) benign	1 lab	57f1e07879
11:111965547 SDHD TACTG>T	11	111965547	111965554	TACTG	T	SDHD	c.337_340del	NM_003002.4	NP_002993.1:p.(Asp113MetfsTer21)	NC_000011.9:g.111965551_111965554del	(Likely) pathogenic	1 lab	57f26a1046
2:227875106 COL4A4 AG>A	2	227875106	227875111	AG	A	COL4A4	c.4444del	NM_000092.4	NP_000083.3:p.(Leu1482TrpfsTer70)	NC_000002.11:g.227875111del	(Likely) pathogenic	1 lab	5803767d10
15:66795509 MISSING T>C	15	66795509	66795509	T	C	MISSING				NC_000015.9:g.66795509T>C	VUS	1 lab	5803d4da2e
20:36028560 SRC A>G	20	36028560	36028560	A	G	SRC	c.902A>G	NM_198291.3	NP_938033.1:p.(Lys301Arg)	NC_000020.10:g.36028560A>G	VUS	1 lab	580cdda7d1
11:31828480 PAX6 C>A	11	31828480	31828480	C	A	PAX6	c.-135-7G>T	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31828480C>A	(Likely) benign	1 lab	580dd9db05
19:36334481 NPHS1 G>A	19	36334481	36334481	G	A	NPHS1	c.2227C>T	NM_004646.3	NP_004637.1:p.(Arg743Cys)	NC_000019.9:g.36334481G>A	(Likely) pathogenic	1 lab	580f2e94f4
4:2831836 SH3BP2 C>A	4	2831836	2831836	C	A	SH3BP2	c.1287C>A	NM_001145855.2	NP_001139327.1:p.(Val429=)	NC_000004.11:g.2831836C>A	(Likely) benign	1 lab	086ec74772
22:29108003 CHEK2 C>G	22	29108003	29108003	C	G	CHEK2	c.686G>C	NM_007194.4	NP_009125.1:p.(Gly229Ala)	NC_000022.10:g.29108003C>G	VUS	1 lab	5810d0223c
14:64657683 SYNE2 C>T	14	64657683	64657683	C	T	SYNE2	c.18038+728C>T	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64657683C>T	(Likely) benign	1 lab	5812fe345d
5:112090658 APC G>A	5	112090658	112090658	G	A	APC	c.71G>A	NM_000038.6	NP_000029.2:p.(Arg24Gln)	NC_000005.9:g.112090658G>A	VUS	1 lab	581440a218
8:144998385 PLEC G>A	8	144998385	144998385	G	A	PLEC	c.6123C>T	NM_201380.4	NP_958782.1:p.(Ser2041=)	NC_000008.10:g.144998385G>A	(Likely) benign	1 lab	087048c3e9
2:167328867 SCN7A C>T	2	167328867	167328867	C	T	SCN7A	c.532G>A	NM_002976.3	NP_002967.2:p.(Asp178Asn)	NC_000002.11:g.167328867C>T	VUS	1 lab	58162b81f9
11:119148891 CBL T>C	11	119148891	119148891	T	C	CBL	c.1111T>C	NM_005188.3	NP_005179.2:p.(Tyr371His)	NC_000011.9:g.119148891T>C	(Likely) pathogenic	1 lab	581cc11bfe
11:686866 DEAF1 G>A	11	686866	686866	G	A	DEAF1	c.796C>T	NM_021008.4	NP_066288.2:p.(Leu266Phe)	NC_000011.9:g.686866G>A	(Likely) pathogenic	1 lab	581d9a5ebc
21:43815560 TMPRSS3 C>T	21	43815560	43815560	C	T	TMPRSS3	c.-34G>A	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43815560C>T	(Likely) benign	1 lab	582307738e
9:2110275 SMARCA2 G>T	9	2110275	2110275	G	T	SMARCA2	c.3314G>T	NM_003070.4	NP_003061.3:p.(Arg1105Leu)	NC_000009.11:g.2110275G>T	(Likely) pathogenic	1 lab	5828b84a9e
2:149240742 MBD5 C>A	2	149240742	149240742	C	A	MBD5	c.2582C>A	NM_018328.4	NP_060798.2:p.(Thr861Lys)	NC_000002.11:g.149240742C>A	(Likely) benign	1 lab	5829146351
16:1245957 CACNA1H G>T	16	1245957	1245957	G	T	CACNA1H	c.577G>T	NM_021098.2	NP_066921.2:p.(Val193Leu)	NC_000016.9:g.1245957G>T	VUS	1 lab	58292e301b
2:74140789 ACTG2 T>C	2	74140789	74140789	T	C	ACTG2	c.613+16T>C	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74140789T>C	(Likely) benign	1 lab	582a983ddf
13:32912670 BRCA2 C>T	13	32912670	32912670	C	T	BRCA2	c.4178C>T	NM_000059.3	NP_000050.2:p.(Ala1393Val)	NC_000013.10:g.32912670C>T	(Likely) benign	1 lab	582aaf89ad
13:32915032 BRCA2 G>C	13	32915032	32915032	G	C	BRCA2	c.6540G>C	NM_000059.4	NP_000050.3:p.(Leu2180Phe)	NC_000013.10:g.32915032G>C	(Likely) benign	1 lab	582b85efca
21:47545971 COL6A2 T>C	21	47545971	47545971	T	C	COL6A2	c.2242T>C	NM_001849.4	NP_001840.3:p.(Cys748Arg)	NC_000021.8:g.47545971T>C	VUS	1 lab	582ddd8c38
1:94496097 ABCA4 A>T	1	94496097	94496097	A	T	ABCA4				NC_000001.10:g.94496097A>T	VUS	1 lab	582fc64b27
3:123038655 ADCY5 C>G	3	123038655	123038655	C	G	ADCY5	c.2122G>C	NM_183357.2	NP_899200.1:p.(Glu708Gln)	NC_000003.11:g.123038655C>G	VUS	1 lab	58349b1dde
5:52954385 NDUFS4 G>C	5	52954385	52954385	G	C	NDUFS4	c.355G>C	NM_002495.3	NP_002486.1:p.(Asp119His)	NC_000005.9:g.52954385G>C	(Likely) pathogenic	1 lab	58354d3ddf
14:63863379 PPP2R5E A>C	14	63863379	63863379	A	C	PPP2R5E	c.605T>G	NM_006246.2	NP_006237.1:p.(Val202Gly)	NC_000014.8:g.63863379A>C	VUS	1 lab	5837b7ede1
9:75404174 TMC1 C>T	9	75404174	75404174	C	T	TMC1	c.1165C>T	NM_138691.2	NP_619636.2:p.(Arg389Ter)	NC_000009.11:g.75404174C>T	(Likely) pathogenic	1 lab	58401616ce
5:92921153 NR2F1 C>T	5	92921153	92921153	C	T	NR2F1	c.424C>T	NM_005654.6	NP_005645.1:p.(Arg142Cys)	NC_000005.9:g.92921153C>T	(Likely) pathogenic	1 lab	5848cb7838
6:6222264 F13A1 A>G	6	6222264	6222264	A	G	F13A1	c.1112+2T>C	NM_000129.3	NP_000120.2:p.?	NC_000006.11:g.6222264A>G	(Likely) pathogenic	1 lab	584a1c7a1c
1:110738255 SLC6A17 C>G	1	110738255	110738255	C	G	SLC6A17	c.1540C>G	NM_001010898.4	NP_001010898.1:p.(Arg514Gly)	NC_000001.10:g.110738255C>G	VUS	1 lab	584cb84d8f
2:166025290 SCN3A T>A	2	166025290	166025290	T	A	SCN3A	c.429A>T	NM_006922.3	NP_008853.3:p.(Val143=)	NC_000002.11:g.166025290T>A	(Likely) benign	1 lab	584cde8328
18:2769989 SMCHD1 G>A	18	2769989	2769989	G	A	SMCHD1	c.4849G>A	NM_015295.2	NP_056110.2:p.(Val1617Ile)	NC_000018.9:g.2769989G>A	VUS	1 lab	5852207da2
7:128496700 FLNC C>G	7	128496700	128496700	C	G	FLNC	c.7380C>G	NM_001458.4	NP_001449.3:p.(Asp2460Glu)	NC_000007.13:g.128496700C>G	(Likely) benign	1 lab	58523da38a
4:155487065 FGB C>T	4	155487065	155487065	C	T	FGB	c.220C>T	NM_005141.5	NP_005132.2:p.(Arg74Cys)	NC_000004.11:g.155487065C>T	VUS	1 lab	5854e5e520
17:62049785 SCN4A C>T	17	62049785	62049785	C	T	SCN4A	c.319G>A	NM_000334.4	NP_000325.4:p.(Ala107Thr)	NC_000017.10:g.62049785C>T	VUS	1 lab	5860b1d6c7
X:77244149 MISSING G>A	X	77244149	77244149	G	A	MISSING				NC_000023.10:g.77244149G>A	VUS	1 lab	58620b72df
2:166847992 SCN1A TA>T	2	166847992	166847996	TA	T	SCN1A	c.5792del	NM_001165963.4	NP_001159435.1:p.(Leu1931Ter)	NC_000002.11:g.166847996del	(Likely) pathogenic	1 lab	586b091e2f
11:108196230 ATM G>A	11	108196230	108196230	G	A	ATM	c.6766G>A	NM_000051.4	NP_000042.3:p.(Val2256Ile)	NC_000011.9:g.108196230G>A	(Likely) benign	1 lab	586dc1bcf8
13:20717299 GJA3 G>T	13	20717299	20717299	G	T	GJA3	c.129C>A	NM_021954.4	NP_068773.2:p.(Asp43Glu)	NC_000013.10:g.20717299G>T	VUS	1 lab	11eff68598
10:95557014 LGI1 G>A	10	95557014	95557014	G	A	LGI1	c.1128G>A	NM_005097.4	NP_005088.1:p.(Trp376Ter)	NC_000010.10:g.95557014G>A	(Likely) pathogenic	1 lab	586f0c858e
2:47637363 MSH2 T>C	2	47637363	47637363	T	C	MSH2	c.497T>C	NM_000251.2	NP_000242.1:p.(Val166Ala)	NC_000002.11:g.47637363T>C	(Likely) benign	1 lab	586fdf472f
7:105207740 RINT1 G>A	7	105207740	105207740	G	A	RINT1	c.2361G>A	NM_021930.5	NP_068749.3:p.(Trp787Ter)	NC_000007.13:g.105207740G>A	VUS	1 lab	587145b0c8
X:10442702 MID1 G>A	X	10442702	10442702	G	A	MID1	c.1102C>T	NM_000381.4	NP_000372.1:p.(Arg368Ter)	NC_000023.10:g.10442702G>A	(Likely) pathogenic	1 lab	58755dc061
5:176718949 NSD1 C>G	5	176718949	176718949	C	G	NSD1	c.6259-6C>G	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176718949C>G	(Likely) benign	1 lab	587c39c1c7
5:14474111 TRIO G>A	5	14474111	14474111	G	A	TRIO	c.5988G>A	NM_007118.3	NP_009049.2:p.(Met1996Ile)	NC_000005.9:g.14474111G>A	VUS	1 lab	5883c3a740
2:47630381 MSH2 C>A	2	47630381	47630381	C	A	MSH2	c.51C>A	NM_000251.3	NP_000242.1:p.(Val17=)	NC_000002.11:g.47630381C>A	(Likely) benign	1 lab	588431010a
6:108243125 SEC63 C>A	6	108243125	108243125	C	A	SEC63	c.340-12G>T	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108243125C>A	(Likely) benign	1 lab	588638f383
2:48033569 MSH6 G>A	2	48033569	48033569	G	A	MSH6	c.3802-22G>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033569G>A	(Likely) benign	1 lab	588996ca09
17:79478309 ACTG1 A>G	17	79478309	79478309	A	G	ACTG1	c.707T>C	NM_001614.3	NP_001605.1:p.(Leu236Pro)	NC_000017.10:g.79478309A>G	(Likely) pathogenic	1 lab	588b018702
3:193355070 OPA1 G>A	3	193355070	193355070	G	A	OPA1	c.1035G>A	NM_130837.2	NP_570850.2:p.(Arg345=)	NC_000003.11:g.193355070G>A	VUS	1 lab	589010edb5
3:58120389 FLNB A>C	3	58120389	58120389	A	C	FLNB	c.4561A>C	NM_001457.4	NP_001448.2:p.(Thr1521Pro)	NC_000003.11:g.58120389A>C	(Likely) pathogenic	1 lab	58944705e8
19:44982264 ZNF180 T>A	19	44982264	44982264	T	A	ZNF180	c.434A>T	NM_013256.3	NP_037388.2:p.(Asp145Val)	NC_000019.9:g.44982264T>A	VUS	1 lab	589840d97d
13:32937663 BRCA2 T>G	13	32937663	32937663	T	G	BRCA2	c.8324T>G	NM_000059.4	NP_000050.3:p.(Met2775Arg)	NC_000013.10:g.32937663T>G	VUS	1 lab	589c1ff68d
12:48376341 COL2A1 GA>G	12	48376341	48376343	GA	G	COL2A1	c.2244del	NM_001844.4	NP_001835.3:p.(Gln749ArgfsTer39)	NC_000012.11:g.48376343del	(Likely) pathogenic	1 lab	589d142f84
5:43675755 NNT G>A	5	43675755	43675755	G	A	NNT	c.2777G>A	NM_012343.3	NP_036475.3:p.(Ser926Asn)	NC_000005.9:g.43675755G>A	(Likely) benign	1 lab	589e03b951
16:89348893 ANKRD11 A>T	16	89348893	89348893	A	T	ANKRD11	c.4057T>A	NM_013275.6	NP_037407.4:p.(Ser1353Thr)	NC_000016.9:g.89348893A>T	(Likely) benign	1 lab	589f8fed08
19:19304899 RFXANK G>C	19	19304899	19304899	G	C	RFXANK	c.144G>C	NM_003721.2	NP_003712.1:p.(Glu48Asp)	NC_000019.9:g.19304899G>C	(Likely) benign	1 lab	087993d067
16:9934944 GRIN2A C>A	16	9934944	9934944	C	A	GRIN2A	c.1346G>T	NM_001134407.1	NP_001127879.1:p.(Gly449Val)	NC_000016.9:g.9934944C>A	VUS	1 lab	58a0735843
2:152382533 NEB GT>G	2	152382533	152382534	GT	G	NEB	c.22099del	NM_001164508.2	NP_001157980.2:p.(Thr7367GlnfsTer15)	NC_000002.11:g.152382534del	(Likely) pathogenic	1 lab	58a409dce7
9:131339096 SPTAN1 G>A	9	131339096	131339096	G	A	SPTAN1	c.652-6G>A	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131339096G>A	(Likely) benign	1 lab	087a6d663d
2:32362263 SPAST G>A	2	32362263	32362263	G	A	SPAST	c.1493+6G>A	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32362263G>A	(Likely) benign	1 lab	58a6d89c86
1:21896767 ALPL C>T	1	21896767	21896767	C	T	ALPL	c.793-31C>T	NM_000478.4	NP_000469.3:p.?	NC_000001.10:g.21896767C>T	(Likely) benign	1 lab	58a9789f5d
9:95481863 BICD2 A>C	9	95481863	95481863	A	C	BICD2	c.1064T>G	NM_001003800.1	NP_001003800.1:p.(Met355Arg)	NC_000009.11:g.95481863A>C	VUS	1 lab	58acea17dd
X:71877464 PHKA1 G>A	X	71877464	71877464	G	A	PHKA1	c.892C>T	NM_002637.4	NP_002628.2:p.(Arg298Ter)	NC_000023.10:g.71877464G>A	(Likely) pathogenic	1 lab	58ae74de42
17:59770787 BRIP1 T>C	17	59770787	59770787	T	C	BRIP1	c.2575+4A>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59770787T>C	VUS	1 lab	58b782369d
1:36940999 CSF3R G>A	1	36940999	36940999	G	A	CSF3R	c.340C>T	NM_000760.4	NP_000751.1:p.(Gln114Ter)	NC_000001.10:g.36940999G>A	(Likely) pathogenic	1 lab	58b9b1be59
12:110222181 TRPV4 C>T	12	110222181	110222181	C	T	TRPV4	c.2398G>A	NM_021625.4	NP_067638.3:p.(Gly800Ser)	NC_000012.11:g.110222181C>T	VUS	1 lab	58b9b7056d
5:58289208 PDE4D T>G	5	58289208	58289208	T	G	PDE4D	c.1006A>C	NM_001104631.2	NP_001098101.1:p.(Thr336Pro)	NC_000005.9:g.58289208T>G	VUS	1 lab	58bbaf3b95
6:99347157 FBXL4 C>A	6	99347157	99347157	C	A	FBXL4	c.1304G>T	NM_012160.3	NP_036292.2:p.(Arg435Leu)	NC_000006.11:g.99347157C>A	(Likely) pathogenic	1 lab	58beef8600
22:36696887 MYH9 G>A	22	36696887	36696887	G	A	MYH9	c.2838+10C>T	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36696887G>A	(Likely) benign	1 lab	087a941984
13:78472470 EDNRB C>T	13	78472470	78472470	C	T	EDNRB	c.1195-1G>A	NM_001122659.3	NP_001116131.1:p.?	NC_000013.10:g.78472470C>T	(Likely) pathogenic	1 lab	58c3d9205b
16:23652449 PALB2 G>A	16	23652449	23652449	G	A	PALB2	c.30C>T	NM_024675.4	NP_078951.2:p.(Ser10=)	NC_000016.9:g.23652449G>A	(Likely) benign	1 lab	58e58cca4f
X:38182199 RPGR C>A	X	38182199	38182199	C	A	RPGR	c.155-1G>T	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38182199C>A	(Likely) pathogenic	1 lab	58c4e28651
9:3266284 RFX3 C>T	9	3266284	3266284	C	T	RFX3	c.1379G>A	NM_134428.1	NP_602304.1:p.(Arg460Gln)	NC_000009.11:g.3266284C>T	VUS	1 lab	58ca1eb07d
14:23855871 MYH6 A>C	14	23855871	23855871	A	C	MYH6	c.4651-39T>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23855871A>C	VUS	1 lab	58d185e5d7
17:38978372 KRT10 G>A	17	38978372	38978372	G	A	KRT10	c.466C>T	NM_000421.3	NP_000412.3:p.(Arg156Cys)	NC_000017.10:g.38978372G>A	(Likely) pathogenic	1 lab	58d32b95e5
2:228162557 COL4A3 G>A	2	228162557	228162557	G	A	COL4A3	c.3733G>A	NM_000091.4	NP_000082.2:p.(Gly1245Ser)	NC_000002.11:g.228162557G>A	(Likely) pathogenic	1 lab	58d3bd95d9
15:90631946 IDH2 T>G	15	90631946	90631946	T	G	IDH2	c.407A>C	NM_002168.3	NP_002159.2:p.(Asn136Thr)	NC_000015.9:g.90631946T>G	VUS	1 lab	58d80c9d50
19:55668443 TNNI3 G>A	19	55668443	55668443	G	A	TNNI3	c.83C>T	NM_000363.5	NP_000354.4:p.(Ala28Val)	NC_000019.9:g.55668443G>A	VUS	1 lab	58df521d66
3:37053539 MLH1 A>G	3	37053539	37053539	A	G	MLH1	c.626A>G	NM_000249.4	NP_000240.1:p.(Asn209Ser)	NC_000003.11:g.37053539A>G	(Likely) benign	1 lab	58e212f1a9
2:179442737 TTN A>T	2	179442737	179442737	A	T	TTN	c.68505T>A	NM_001267550.2	NP_001254479.2:p.(Pro22835=)	NC_000002.11:g.179442737A>T	(Likely) benign	1 lab	58e57c9c28
1:241682927 FH G>T	1	241682927	241682927	G	T	FH	c.96C>A	NM_000143.3	NP_000134.2:p.(Ala32=)	NC_000001.10:g.241682927G>T	(Likely) benign	1 lab	58e8c1f394
16:2231391 CASKIN1 C>G	16	2231391	2231391	C	G	CASKIN1	c.1978G>C	NM_020764.4	NP_065815.1:p.(Glu660Gln)	NC_000016.9:g.2231391C>G	VUS	1 lab	58e93b3975
17:7801846 CHD3 C>T	17	7801846	7801846	C	T	CHD3	c.2084C>T	NM_001005273.3	NP_001005273.1:p.(Pro695Leu)	NC_000017.10:g.7801846C>T	VUS	1 lab	58ea99dc20
16:57949251 CNGB1 G>A	16	57949251	57949251	G	A	CNGB1	c.2218-12C>T	NM_001297.4	NP_001288.3:p.?	NC_000016.9:g.57949251G>A	(Likely) benign	1 lab	58ec521de7
3:58134046 FLNB C>T	3	58134046	58134046	C	T	FLNB	c.5935C>T	NM_001164317.1	NP_001157789.1:p.(Arg1979Ter)	NC_000003.11:g.58134046C>T	(Likely) pathogenic	1 lab	58ed420d79
12:6128661 VWF C>T	12	6128661	6128661	C	T	VWF	c.3923G>A	NM_000552.3	NP_000543.2:p.(Arg1308His)	NC_000012.11:g.6128661C>T	VUS	1 lab	58f0edec74
12:48390409 COL2A1 C>T	12	48390409	48390409	C	T	COL2A1	c.532-1G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48390409C>T	(Likely) pathogenic	1 lab	593903bd33
14:67646400 GPHN T>C	14	67646400	67646400	T	C	GPHN	c.2176+9T>C	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67646400T>C	(Likely) benign	1 lab	3801b1d8fb
5:168222516 SLIT3 G>A	5	168222516	168222516	G	A	SLIT3	c.1003C>T	NM_001271946.1	NP_001258875.1:p.(Arg335Ter)	NC_000005.9:g.168222516G>A	VUS	1 lab	58f784a49c
13:32953920 BRCA2 T>A	13	32953920	32953920	T	A	BRCA2	c.8987T>A	NM_000059.3	NP_000050.2:p.(Leu2996Ter)	NC_000013.10:g.32953920T>A	(Likely) pathogenic	1 lab	58fbce033c
8:38089312 DDHD2 C>T	8	38089312	38089312	C	T	DDHD2	c.-74C>T	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38089312C>T	(Likely) benign	1 lab	5bf55ceb09
2:27465494 CAD A>G	2	27465494	27465494	A	G	CAD	c.6229A>G	NM_004341.5	NP_004332.2:p.(Met2077Val)	NC_000002.11:g.27465494A>G	VUS	1 lab	58fff85b6d
12:6153453 VWF T>C	12	6153453	6153453	T	C	VWF	c.2442+4A>G	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6153453T>C	VUS	1 lab	5a78838145
8:42693430 THAP1 G>A	8	42693430	42693430	G	A	THAP1	c.317C>T	NM_018105.2	NP_060575.1:p.(Pro106Leu)	NC_000008.10:g.42693430G>A	VUS	1 lab	590494af81
2:47708087 MSH2 T>G	2	47708087	47708087	T	G	MSH2	c.2634+77T>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47708087T>G	(Likely) benign	1 lab	5907904f3a
16:15931906 MYH11 C>G	16	15931906	15931906	C	G	MYH11	c.204G>C	NM_001040113.1	NP_001035202.1:p.(Lys68Asn)	NC_000016.9:g.15931906C>G	VUS	1 lab	59080938fa
11:108187990 ATM T>C	11	108187990	108187990	T	C	ATM	c.6199-110T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108187990T>C	(Likely) benign	1 lab	590a09d5a7
1:224621638 WDR26 T>C	1	224621638	224621638	T	C	WDR26	c.470A>G	NM_001379403.1	NP_001366332.1:p.(Asn157Ser)	NC_000001.10:g.224621638T>C	VUS	1 lab	590ca78349
12:58021463 B4GALNT1 G>T	12	58021463	58021463	G	T	B4GALNT1	c.1322C>A	NM_001478.4	NP_001469.1:p.(Ala441Glu)	NC_000012.11:g.58021463G>T	(Likely) pathogenic	1 lab	590df5892a
2:74300766 TET3 G>A	2	74300766	74300766	G	A	TET3	c.2585G>A	NM_001287491.2	NP_001274420.1:p.(Arg862Gln)	NC_000002.11:g.74300766G>A	VUS	1 lab	59123a9893
12:116429501 MED13L G>A	12	116429501	116429501	G	A	MED13L	c.3258C>T	NM_015335.4	NP_056150.1:p.(Pro1086=)	NC_000012.11:g.116429501G>A	(Likely) benign	1 lab	59124944e2
5:89981467 ADGRV1 G>C	5	89981467	89981467	G	C	ADGRV1	c.6275-130G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89981467G>C	(Likely) benign	1 lab	0a8ff79559
17:59853792 BRIP1 TTGGCTCACAGTC>T	17	59853792	59853808	TTGGCTCACAGTC	T	BRIP1	c.2055_2066del	NM_032043.3	NP_114432.2:p.(Thr686_Gln689del)	NC_000017.10:g.59853797_59853808del	VUS	1 lab	591603ca23
11:118037733 SCN2B C>T	11	118037733	118037733	C	T	SCN2B	c.517G>A	NM_004588.5	NP_004579.1:p.(Val173Ile)	NC_000011.9:g.118037733C>T	(Likely) benign	1 lab	592127cd93
4:5747078 EVC A>G	4	5747078	5747078	A	G	EVC	c.939+10A>G	NM_153717.2	NP_714928.1:p.?	NC_000004.11:g.5747078A>G	(Likely) benign	1 lab	5923335bee
20:5283357 PROKR2 T>A	20	5283357	5283357	T	A	PROKR2	c.484A>T	NM_144773.4	NP_658986.1:p.(Lys162Ter)	NC_000020.10:g.5283357T>A	(Likely) pathogenic	1 lab	5926917af4
13:32912666 BRCA2 G>A	13	32912666	32912666	G	A	BRCA2	c.4174G>A	NM_000059.3	NP_000050.2:p.(Val1392Ile)	NC_000013.10:g.32912666G>A	(Likely) benign	1 lab	5926e4b35f
5:1255411 TERT T>C	5	1255411	1255411	T	C	TERT	c.3148A>G	NM_198253.2	NP_937983.2:p.(Lys1050Glu)	NC_000005.9:g.1255411T>C	(Likely) pathogenic	1 lab	5928b57258
9:130588101 ENG G>A	9	130588101	130588101	G	A	ENG	c.562C>T	NM_000118.3	NP_000109.1:p.(Gln188Ter)	NC_000009.11:g.130588101G>A	(Likely) pathogenic	1 lab	08822adb6c
1:45798778 MUTYH T>C	1	45798778	45798778	T	C	MUTYH	c.453A>G	NM_001128425.1	NP_001121897.1:p.(Gly151=)	NC_000001.10:g.45798778T>C	(Likely) benign	1 lab	592dcddbc3
15:72103855 NR2E3 G>A	15	72103855	72103855	G	A	NR2E3	c.151G>A	NM_014249.2	NP_055064.1:p.(Gly51Arg)	NC_000015.9:g.72103855G>A	(Likely) pathogenic	1 lab	5930effa78
18:2751336 SMCHD1 G>T	18	2751336	2751336	G	T	SMCHD1	c.4226G>T	NM_015295.2	NP_056110.2:p.(Arg1409Leu)	NC_000018.9:g.2751336G>T	VUS	1 lab	59315f3f30
5:112155088 APC G>A	5	112155088	112155088	G	A	APC	c.1312+47G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155088G>A	(Likely) benign	1 lab	593379e502
2:166188168 SCN2A C>T	2	166188168	166188168	C	T	SCN2A	c.2388+90C>T	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166188168C>T	(Likely) benign	1 lab	0882b8ee21
6:112493954 LAMA4 C>T	6	112493954	112493954	C	T	LAMA4	c.1410G>A	NM_001105206.2	NP_001098676.2:p.(Leu470=)	NC_000006.11:g.112493954C>T	(Likely) benign	1 lab	5945ae3cda
14:64532135 SYNE2 C>T	14	64532135	64532135	C	T	SYNE2	c.10213-15C>T	NM_015180.4	NP_055995.4:p.?	NC_000014.8:g.64532135C>T	(Likely) benign	1 lab	594677c487
2:1946968 MYT1L C>T	2	1946968	1946968	C	T	MYT1L	c.291G>A	NM_015025.2	NP_055840.2:p.(Glu97=)	NC_000002.11:g.1946968C>T	(Likely) benign	1 lab	594e741285
X:139586559 SOX3 ACTTAT>A	X	139586559	139586567	ACTTAT	A	SOX3	c.662_666del	NM_005634.3	NP_005625.2:p.(Asp221ValfsTer155)	NC_000023.10:g.139586563_139586567del	VUS	1 lab	594f4629e6
22:19752611 TBX1 C>A	22	19752611	19752611	C	A	TBX1	c.815C>A	NM_080647.1	NP_542378.1:p.(Ala272Glu)	NC_000022.10:g.19752611C>A	VUS	1 lab	5951d420a3
17:16852271 TNFRSF13B C>T	17	16852271	16852271	C	T	TNFRSF13B	c.226G>A	NM_012452.3	NP_036584.1:p.(Gly76Ser)	NC_000017.10:g.16852271C>T	VUS	1 lab	5952469365
12:80661031 OTOGL A>G	12	80661031	80661031	A	G	OTOGL	c.2364-2A>G	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80661031A>G	(Likely) pathogenic	1 lab	5952971a95
15:80445410 FAH C>G	15	80445410	80445410	C	G	FAH	c.14C>G	NM_000137.2	NP_000128.1:p.(Pro5Arg)	NC_000015.9:g.80445410C>G	(Likely) benign	1 lab	595405116e
10:121435976 BAG3 C>T	10	121435976	121435976	C	T	BAG3	c.910C>T	NM_004281.4	NP_004272.2:p.(Gln304Ter)	NC_000010.10:g.121435976C>T	(Likely) pathogenic	1 lab	59567f68b5
7:128489469 FLNC C>A	7	128489469	128489469	C	A	FLNC	c.5036C>A	NM_001458.4	NP_001449.3:p.(Thr1679Lys)	NC_000007.13:g.128489469C>A	VUS	1 lab	595a06df4c
17:29585506 NF1 A>G	17	29585506	29585506	A	G	NF1	c.4318A>G	NM_001042492.3	NP_001035957.1:p.(Lys1440Glu)	NC_000017.10:g.29585506A>G	(Likely) pathogenic	1 lab	595ab63ab9
8:41791093 KAT6A C>T	8	41791093	41791093	C	T	KAT6A	c.4645G>A	NM_006766.5	NP_006757.2:p.(Gly1549Ser)	NC_000008.10:g.41791093C>T	(Likely) pathogenic	1 lab	595de2fb8d
3:38904693 SCN11A C>T	3	38904693	38904693	C	T	SCN11A	c.4049G>A	NM_014139.3	NP_054858.2:p.(Arg1350Gln)	NC_000003.11:g.38904693C>T	VUS	1 lab	595edb7207
11:17415926 ABCC8 C>T	11	17415926	17415926	C	T	ABCC8	c.4432G>A	NM_000352.6	NP_000343.2:p.(Gly1478Arg)	NC_000011.9:g.17415926C>T	VUS	1 lab	5962a0ec6f
5:176942062 DDX41 C>T	5	176942062	176942062	C	T	DDX41	c.653G>A	NM_016222.4	NP_057306.2:p.(Gly218Asp)	NC_000005.9:g.176942062C>T	(Likely) pathogenic	1 lab	5967f50229
7:107330615 SLC26A4 CT>C	7	107330615	107330617	CT	C	SLC26A4	c.1198del	NM_000441.1	NP_000432.1:p.(Cys400ValfsTer32)	NC_000007.13:g.107330617del	(Likely) pathogenic	1 lab	5968f6d817
3:130698231 ATP2C1 C>T	3	130698231	130698231	C	T	ATP2C1	c.1709C>T	NM_014382.3	NP_055197.2:p.(Thr570Ile)	NC_000003.11:g.130698231C>T	(Likely) pathogenic	1 lab	596b9a51cb
3:112732180 RMP64 T>C	3	112732180	112732180	T	C	RMP64	c.412A>G	NM_015412.3	NP_056227.2:p.(Lys138Glu)	NC_000003.11:g.112732180T>C	VUS	1 lab	5972ff69d7
17:60631090 TLK2 G>A	17	60631090	60631090	G	A	TLK2	c.694G>A	NM_006852.6	NP_006843.2:p.(Glu232Lys)	NC_000017.10:g.60631090G>A	VUS	1 lab	597447e151
16:8895713 PMM2 G>A	16	8895713	8895713	G	A	PMM2	c.124G>A	NM_000303.2	NP_000294.1:p.(Gly42Arg)	NC_000016.9:g.8895713G>A	VUS	1 lab	59759ccc5c
21:47409550 COL6A1 G>A	21	47409550	47409550	G	A	COL6A1				NC_000021.8:g.47409550G>A	(Likely) pathogenic	1 lab	5aef0047e7
17:63533754 AXIN2 G>A	17	63533754	63533754	G	A	AXIN2	c.1400C>T	NM_004655.4	NP_004646.3:p.(Pro467Leu)	NC_000017.10:g.63533754G>A	VUS	1 lab	59763ae699
1:94508455 ABCA4 C>T	1	94508455	94508455	C	T	ABCA4	c.3191-1G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94508455C>T	(Likely) pathogenic	1 lab	597a4a6b89
6:7562930 DSP G>A	6	7562930	7562930	G	A	DSP	c.643G>A	NM_004415.2	NP_004406.2:p.(Glu215Lys)	NC_000006.11:g.7562930G>A	VUS	1 lab	597d5d2fb1
5:908491 TRIP13 C>T	5	908491	908491	C	T	TRIP13	c.781C>T	NM_004237.4	NP_004228.1:p.(Arg261Ter)	NC_000005.9:g.908491C>T	(Likely) pathogenic	1 lab	597dedb91f
17:61457134 TANC2 C>T	17	61457134	61457134	C	T	TANC2	c.2638C>T	NM_001394998.1	NP_001381927.1:p.(Arg880Ter)	NC_000017.10:g.61457134C>T	(Likely) pathogenic	1 lab	597ea362f4
X:10423024 MID1 T>C	X	10423024	10423024	T	C	MID1	c.1541A>G	NM_000381.4	NP_000372.1:p.(Lys514Arg)	NC_000023.10:g.10423024T>C	(Likely) benign	1 lab	597f264b5c
6:135751139 AHI1 C>T	6	135751139	135751139	C	T	AHI1	c.2374-1G>A	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135751139C>T	(Likely) pathogenic	1 lab	597f4a6e27
4:56846459 CEP135 G>T	4	56846459	56846459	G	T	CEP135	c.1624G>T	NM_025009.5	NP_079285.2:p.(Glu542Ter)	NC_000004.11:g.56846459G>T	(Likely) pathogenic	1 lab	5981e08271
11:532310 HRAS G>A	11	532310	532310	G	A	HRAS	c.*218C>T	NM_005343.2	NP_005334.1:p.?	NC_000011.9:g.532310G>A	(Likely) benign	1 lab	5e98e5eae0
13:32953926 BRCA2 C>A	13	32953926	32953926	C	A	BRCA2	c.8993C>A	NM_000059.3	NP_000050.2:p.(Ser2998Tyr)	NC_000013.10:g.32953926C>A	VUS	1 lab	5981f3b8eb
11:76868004 MYO7A C>T	11	76868004	76868004	C	T	MYO7A	c.689C>T	NM_000260.4	NP_000251.3:p.(Ala230Val)	NC_000011.9:g.76868004C>T	(Likely) pathogenic	1 lab	5983578937
16:56947215 SLC12A3 G>A	16	56947215	56947215	G	A	SLC12A3	c.2991G>A	NM_000339.2	NP_000330.2:p.(Ser997=)	NC_000016.9:g.56947215G>A	(Likely) benign	1 lab	5989b37878
2:48033498 MSH6 G>A	2	48033498	48033498	G	A	MSH6	c.3801+1G>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48033498G>A	(Likely) pathogenic	1 lab	598b9c99ea
9:135800997 TSC1 G>A	9	135800997	135800997	G	A	TSC1	c.340C>T	NM_000368.5	NP_000359.1:p.(Pro114Ser)	NC_000009.11:g.135800997G>A	(Likely) benign	1 lab	5990c5f312
6:7581415 DSP G>A	6	7581415	7581415	G	A	DSP	c.4992G>A	NM_004415.4	NP_004406.2:p.(Leu1664=)	NC_000006.11:g.7581415G>A	(Likely) benign	1 lab	5991d2c547
2:47705492 MSH2 G>A	2	47705492	47705492	G	A	MSH2	c.2292G>A	NM_000251.2	NP_000242.1:p.(Trp764Ter)	NC_000002.11:g.47705492G>A	(Likely) pathogenic	1 lab	59963f337b
11:68207349 LRP5 A>G	11	68207349	68207349	A	G	LRP5	c.4453A>G	NM_002335.2	NP_002326.2:p.(Ser1485Gly)	NC_000011.9:g.68207349A>G	VUS	1 lab	59a1149b98
11:128708947 KCNJ1 T>A	11	128708947	128708947	T	A	KCNJ1				NC_000011.9:g.128708947T>A	(Likely) benign	1 lab	59a26883e0
X:66905906 AR G>A	X	66905906	66905906	G	A	AR	c.1823G>A	NM_000044.6	NP_000035.2:p.(Arg608Gln)	NC_000023.10:g.66905906G>A	(Likely) pathogenic	1 lab	59a4c6640b
16:68867355 CDH1 C>T	16	68867355	68867355	C	T	CDH1	c.2602C>T	NM_004360.4	NP_004351.1:p.(Arg868Cys)	NC_000016.9:g.68867355C>T	(Likely) benign	1 lab	59a5f4c2a7
14:67647581 GPHN C>T	14	67647581	67647581	C	T	GPHN	c.2237C>T	NM_020806.4	NP_065857.1:p.(Pro746Leu)	NC_000014.8:g.67647581C>T	VUS	1 lab	59a74075ee
3:52485729 TNNC1 C>T	3	52485729	52485729	C	T	TNNC1	c.317+31G>A	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52485729C>T	VUS	1 lab	6f65da10b2
2:168103925 XIRP2 A>G	2	168103925	168103925	A	G	XIRP2	c.6023A>G	NM_152381.6	NP_689594.4:p.(Asn2008Ser)	NC_000002.11:g.168103925A>G	(Likely) benign	1 lab	0885e35118
16:68835824 CDH1 G>A	16	68835824	68835824	G	A	CDH1	c.387+28G>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68835824G>A	(Likely) benign	1 lab	59af7b6ede
6:7727522 BMP6 G>C	6	7727522	7727522	G	C	BMP6	c.334G>C	NM_001718.6	NP_001709.1:p.(Glu112Gln)	NC_000006.11:g.7727522G>C	VUS	1 lab	59b837542d
1:43393297 SLC2A1 G>A	1	43393297	43393297	G	A	SLC2A1	c.1257C>T	NM_006516.2	NP_006507.2:p.(Gly419=)	NC_000001.10:g.43393297G>A	(Likely) pathogenic	1 lab	59b997b998
14:95595852 DICER1 T>A	14	95595852	95595852	T	A	DICER1	c.691A>T	NM_177438.3	NP_803187.1:p.(Lys231Ter)	NC_000014.8:g.95595852T>A	(Likely) pathogenic	1 lab	59ba7827f1
X:153588198 FLNA T>G	X	153588198	153588198	T	G	FLNA	c.3881A>C	NM_001110556.1	NP_001104026.1:p.(Lys1294Thr)	NC_000023.10:g.153588198T>G	VUS	1 lab	59bc7211f9
2:179421868 TTN G>T	2	179421868	179421868	G	T	TTN	c.80309C>A	NM_133378.4	NP_596869.4:p.(Pro26770His)	NC_000002.11:g.179421868G>T	VUS	1 lab	59bd66a4cb
3:183888018 DVL3 G>A	3	183888018	183888018	G	A	DVL3	c.1714+9G>A	NM_004423.3	NP_004414.3:p.?	NC_000003.11:g.183888018G>A	(Likely) benign	1 lab	59be394ceb
9:77377410 TRPM6 C>T	9	77377410	77377410	C	T	TRPM6	c.4177G>A	NM_017662.4	NP_060132.3:p.(Val1393Ile)	NC_000009.11:g.77377410C>T	(Likely) benign	1 lab	59c2783f39
2:179636080 TTN G>T	2	179636080	179636080	G	T	TTN	c.7974C>A	NM_133379.4	NP_596870.2:p.(His2658Gln)	NC_000002.11:g.179636080G>T	(Likely) benign	1 lab	59c2961391
12:6127617 VWF G>A	12	6127617	6127617	G	A	VWF	c.4967C>T	NM_000552.5	NP_000543.3:p.(Thr1656Met)	NC_000012.11:g.6127617G>A	(Likely) benign	1 lab	59c2a973d1
7:100225358 TFR2 C>G	7	100225358	100225358	C	G	TFR2	c.1682+9G>C	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100225358C>G	(Likely) benign	1 lab	59e8d16657
2:179447252 TTN C>T	2	179447252	179447252	C	T	TTN	c.65931G>A	NM_001267550.2	NP_001254479.2:p.(Trp21977Ter)	NC_000002.11:g.179447252C>T	(Likely) pathogenic	1 lab	59cc8348e1
3:130650911 ATP2C1 C>T	3	130650911	130650911	C	T	ATP2C1	c.163C>T	NM_014382.3	NP_055197.2:p.(Arg55Ter)	NC_000003.11:g.130650911C>T	(Likely) pathogenic	1 lab	59ceb1e09e
1:197070091 ASPM CCT>C	1	197070091	197070095	CCT	C	ASPM	c.8288_8289del	NM_018136.5	NP_060606.3:p.(Glu2763GlyfsTer8)	NC_000001.10:g.197070094_197070095del	(Likely) pathogenic	1 lab	59d35eb7d8
9:131669417 LRRC8A T>G	9	131669417	131669417	T	G	LRRC8A	c.-8-19T>G	NM_019594.3	NP_062540.2:p.?	NC_000009.11:g.131669417T>G	(Likely) benign	1 lab	0888f854df
19:38976612 RYR1 C>T	19	38976612	38976612	C	T	RYR1	c.5317C>T	NM_000540.2	NP_000531.2:p.(Pro1773Ser)	NC_000019.9:g.38976612C>T	(Likely) benign	1 lab	59d98e0809
19:797498 PTBP1 A>G	19	797498	797498	A	G	PTBP1	c.1A>G	NM_002819.4	NP_002810.1:p.(Met1?)	NC_000019.9:g.797498A>G	VUS	1 lab	59dd74cfad
4:155510588 FGA C>G	4	155510588	155510588	C	G	FGA	c.180+1G>C	NM_000508.3	NP_000499.1:p.?	NC_000004.11:g.155510588C>G	(Likely) pathogenic	1 lab	59ddc33979
8:61655357 CHD7 C>T	8	61655357	61655357	C	T	CHD7	c.1366C>T	NM_017780.3	NP_060250.2:p.(Gln456Ter)	NC_000008.10:g.61655357C>T	(Likely) pathogenic	1 lab	59e0390ad6
1:150316692 PRPF3 C>T	1	150316692	150316692	C	T	PRPF3	c.1481C>T	NM_004698.4	NP_004689.1:p.(Thr494Met)	NC_000001.10:g.150316692C>T	(Likely) pathogenic	1 lab	59e58bbd30
1:169519112 F5 C>T	1	169519112	169519112	C	T	F5	c.1538G>A	NM_000130.4	NP_000121.2:p.(Arg513Lys)	NC_000001.10:g.169519112C>T	(Likely) benign	1 lab	59e81185b4
16:21747633 OTOA A>C	16	21747633	21747633	A	C	OTOA	c.2353A>C	NM_144672.3	NP_653273.3:p.(Thr785Pro)	NC_000016.9:g.21747633A>C	(Likely) benign	1 lab	59eee66651
8:87644996 CNGB3 G>A	8	87644996	87644996	G	A	CNGB3				NC_000008.10:g.87644996G>A	(Likely) pathogenic	1 lab	59ef3b785f
4:15992840 PROM1 C>A	4	15992840	15992840	C	A	PROM1	c.1983+5G>T	NM_006017.2	NP_006008.1:p.?	NC_000004.11:g.15992840C>A	VUS	1 lab	59f29b2eeb
2:167273291 SCN7A C>T	2	167273291	167273291	C	T	SCN7A	c.3340G>A	NM_002976.4	NP_002967.2:p.(Glu1114Lys)	NC_000002.11:g.167273291C>T	(Likely) benign	1 lab	59f2bbd405
2:227964377 COL4A4 C>T	2	227964377	227964377	C	T	COL4A4	c.1058G>A	NM_000092.5	NP_000083.3:p.(Gly353Glu)	NC_000002.11:g.227964377C>T	(Likely) pathogenic	1 lab	59f66c13f5
19:11559732 PRKCSH C>A	19	11559732	11559732	C	A	PRKCSH	c.1269C>A	NM_002743.3	NP_002734.2:p.(Tyr423Ter)	NC_000019.9:g.11559732C>A	(Likely) pathogenic	1 lab	59f78bfba6
16:68857526 CDH1 C>G	16	68857526	68857526	C	G	CDH1	c.2161C>G	NM_004360.5	NP_004351.1:p.(Leu721Val)	NC_000016.9:g.68857526C>G	(Likely) pathogenic	1 lab	59fb8267b3
5:112173960 APC T>G	5	112173960	112173960	T	G	APC	c.2669T>G	NM_000038.6	NP_000029.2:p.(Val890Gly)	NC_000005.9:g.112173960T>G	VUS	1 lab	5a002a09ec
X:39932171 BCOR G>A	X	39932171	39932171	G	A	BCOR	c.2428C>T	NM_001123383.1	NP_001116855.1:p.(Arg810Ter)	NC_000023.10:g.39932171G>A	(Likely) pathogenic	1 lab	088a546648
6:157502101 ARID1B A>G	6	157502101	157502101	A	G	ARID1B	c.3136-2A>G	NM_020732.3	NP_065783.3:p.?	NC_000006.11:g.157502101A>G	(Likely) pathogenic	1 lab	5a0396918e
17:59876606 BRIP1 C>T	17	59876606	59876606	C	T	BRIP1	c.1195G>A	NM_032043.3	NP_114432.2:p.(Glu399Lys)	NC_000017.10:g.59876606C>T	VUS	1 lab	5a03afb32c
7:47879150 PKD1L1 C>T	7	47879150	47879150	C	T	PKD1L1	c.5663G>A	NM_138295.4	NP_612152.1:p.(Gly1888Glu)	NC_000007.13:g.47879150C>T	VUS	1 lab	5a042b4187
3:38961421 SCN11A C>T	3	38961421	38961421	C	T	SCN11A	c.959+5G>A	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38961421C>T	(Likely) benign	1 lab	5a093c18c3
15:93567816 CHD2 C>T	15	93567816	93567816	C	T	CHD2	c.5368C>T	NM_001271.3	NP_001262.3:p.(Pro1790Ser)	NC_000015.9:g.93567816C>T	(Likely) benign	1 lab	5a0f4ef559
10:85954517 CDHR1 A>G	10	85954517	85954517	A	G	CDHR1	c.1A>G	NM_033100.4	NP_149091.1:p.(Met1?)	NC_000010.10:g.85954517A>G	(Likely) pathogenic	1 lab	5a16c4216f
12:44161993 IRAK4 G>T	12	44161993	44161993	G	T	IRAK4	c.79G>T	NM_001114182.2	NP_001107654.1:p.(Asp27Tyr)	NC_000012.11:g.44161993G>T	(Likely) pathogenic	1 lab	5a1a9bcc46
2:216232622 FN1 C>T	2	216232622	216232622	C	T	FN1	c.6982G>A	NM_212482.2	NP_997647.1:p.(Gly2328Ser)	NC_000002.11:g.216232622C>T	VUS	1 lab	5a1b676799
16:89350225 ANKRD11 C>T	16	89350225	89350225	C	T	ANKRD11	c.2725G>A	NM_013275.6	NP_037407.4:p.(Asp909Asn)	NC_000016.9:g.89350225C>T	(Likely) benign	1 lab	5a1ba68297
8:10480237 RP1L1 T>A	8	10480237	10480237	T	A	RP1L1	c.475A>T	NM_178857.5	NP_849188.4:p.(Asn159Tyr)	NC_000008.10:g.10480237T>A	VUS	1 lab	5a1bc958df
22:27019289 CRYBA4 T>A	22	27019289	27019289	T	A	CRYBA4	c.131T>A	NM_001886.2	NP_001877.1:p.(Val44Glu)	NC_000022.10:g.27019289T>A	(Likely) pathogenic	1 lab	5a1bf8c429
1:216495298 USH2A G>A	1	216495298	216495298	G	A	USH2A				NC_000001.10:g.216495298G>A	(Likely) pathogenic	1 lab	5a1ce7c1d0
21:36252859 RUNX1 C>T	21	36252859	36252859	C	T	RUNX1	c.503G>A	NM_001754.4	NP_001745.2:p.(Gly168Glu)	NC_000021.8:g.36252859C>T	VUS	1 lab	5a23ac1b92
16:88782418 PIEZO1 G>A	16	88782418	88782418	G	A	PIEZO1	c.7239C>T	NM_001142864.4	NP_001136336.2:p.(Thr2413=)	NC_000016.9:g.88782418G>A	(Likely) benign	1 lab	088d700305
6:70991091 COL9A1 A>T	6	70991091	70991091	A	T	COL9A1	c.876+2T>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70991091A>T	(Likely) pathogenic	1 lab	5a28b06905
X:107811873 COL4A5 TC>T	X	107811873	107811875	TC	T	COL4A5	c.293del	NM_033380.2	NP_203699.1:p.(Pro98LeufsTer57)	NC_000023.10:g.107811875del	(Likely) pathogenic	1 lab	5a2b64c129
2:179470438 TTN G>A	2	179470438	179470438	G	A	TTN	c.53584C>T	NM_001267550.2	NP_001254479.2:p.(Pro17862Ser)	NC_000002.11:g.179470438G>A	VUS	1 lab	5a361690a0
16:23634478 PALB2 G>A	16	23634478	23634478	G	A	PALB2	c.2835-27C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23634478G>A	(Likely) benign	1 lab	5a38bf6f21
7:117227840 CFTR T>G	7	117227840	117227840	T	G	CFTR	c.1632T>G	NM_000492.4	NP_000483.3:p.(Gly544=)	NC_000007.13:g.117227840T>G	(Likely) benign	1 lab	5a3b29aacb
9:130258324 LRSAM1 C>T	9	130258324	130258324	C	T	LRSAM1	c.1780C>T	NM_138361.5	NP_612370.3:p.(Arg594Cys)	NC_000009.11:g.130258324C>T	VUS	1 lab	5a3e603204
17:48272654 COL1A1 C>T	17	48272654	48272654	C	T	COL1A1	c.1238G>A	NM_000088.3	NP_000079.2:p.(Gly413Asp)	NC_000017.10:g.48272654C>T	(Likely) pathogenic	1 lab	5a3e942cb8
4:106193720 TET2 G>A	4	106193720	106193720	G	A	TET2	c.4183-1G>A	NM_001127208.3	NP_001120680.1:p.?	NC_000004.11:g.106193720G>A	(Likely) pathogenic	1 lab	5a419ecd96
7:5568883 ACTB TAGA>T	7	5568883	5568888	TAGA	T	ACTB	c.269_271del	NM_001101.4	NP_001092.1:p.(Phe90del)	NC_000007.13:g.5568886_5568888del	VUS	1 lab	5a42babe93
10:50680959 ERCC6 G>A	10	50680959	50680959	G	A	ERCC6	c.2825C>T	NM_000124.2	NP_000115.1:p.(Thr942Met)	NC_000010.10:g.50680959G>A	(Likely) benign	1 lab	5a435f2c16
4:187201651 F11 C>T	4	187201651	187201651	C	T	F11	c.1052C>T	NM_000128.3	NP_000119.1:p.(Ser351Phe)	NC_000004.11:g.187201651C>T	(Likely) pathogenic	1 lab	5a4447b607
19:33878807 PEPD C>A	19	33878807	33878807	C	A	PEPD	c.1333G>T	NM_000285.4	NP_000276.2:p.(Gly445Cys)	NC_000019.9:g.33878807C>A	(Likely) benign	1 lab	0893919856
3:70008422 MITF AG>A	3	70008422	70008423	AG	A	MITF	c.711-1del	NM_000248.3	NP_000239.1:p.?	NC_000003.11:g.70008423del	(Likely) pathogenic	1 lab	5a48159e00
X:153221698 HCFC1 C>T	X	153221698	153221698	C	T	HCFC1	c.2800G>A	NM_005334.3	NP_005325.2:p.(Ala934Thr)	NC_000023.10:g.153221698C>T	VUS	1 lab	5a48da5900
5:112128143 APC C>T	5	112128143	112128143	C	T	APC	c.646C>T	NM_000038.5	NP_000029.2:p.(Arg216Ter)	NC_000005.9:g.112128143C>T	(Likely) pathogenic	1 lab	5a498bdedf
5:112175255 APC G>A	5	112175255	112175255	G	A	APC	c.3964G>A	NM_000038.5	NP_000029.2:p.(Glu1322Lys)	NC_000005.9:g.112175255G>A	(Likely) benign	1 lab	5a4c191736
17:41226357 BRCA1 G>A	17	41226357	41226357	G	A	BRCA1	c.4666C>T	NM_007294.4	NP_009225.1:p.(Gln1556Ter)	NC_000017.10:g.41226357G>A	(Likely) pathogenic	1 lab	5a4dc0b289
1:241680582 FH G>C	1	241680582	241680582	G	C	FH	c.167C>G	NM_000143.4	NP_000134.2:p.(Thr56Ser)	NC_000001.10:g.241680582G>C	(Likely) benign	1 lab	5a4e8eea83
15:41308365 INO80 A>C	15	41308365	41308365	A	C	INO80	c.3323T>G	NM_017553.3	NP_060023.1:p.(Val1108Gly)	NC_000015.9:g.41308365A>C	(Likely) benign	1 lab	5a4efda62c
19:55668329 TNNI3 C>T	19	55668329	55668329	C	T	TNNI3	c.108+89G>A	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668329C>T	(Likely) benign	1 lab	5a4f202912
2:47641418 MSH2 C>A	2	47641418	47641418	C	A	MSH2	c.803C>A	NM_000251.2	NP_000242.1:p.(Ser268Ter)	NC_000002.11:g.47641418C>A	(Likely) pathogenic	1 lab	5a4f35e7c1
2:223085955 PAX3 G>T	2	223085955	223085955	G	T	PAX3	c.944C>A	NM_181457.3	NP_852122.1:p.(Thr315Lys)	NC_000002.11:g.223085955G>T	(Likely) benign	1 lab	5a51d1aff5
19:39008172 RYR1 C>T	19	39008172	39008172	C	T	RYR1	c.9859C>T	NM_000540.2	NP_000531.2:p.(Arg3287Cys)	NC_000019.9:g.39008172C>T	VUS	1 lab	5a529c29f2
2:1983497 MYT1L C>T	2	1983497	1983497	C	T	MYT1L	c.53G>A	NM_015025.2	NP_055840.2:p.(Arg18Gln)	NC_000002.11:g.1983497C>T	VUS	1 lab	5eb176c7ef
16:89212360 ACSF3 G>A	16	89212360	89212360	G	A	ACSF3	c.1516G>A	NM_001243279.2	NP_001230208.1:p.(Gly506Arg)	NC_000016.9:g.89212360G>A	VUS	1 lab	5a5664c9d4
15:31206123 FAN1 GCATC>G	15	31206123	31206127	GCATC	G	FAN1	c.1641_1644del	NM_014967.4	NP_055782.3:p.(Ile548CysfsTer6)	NC_000015.9:g.31206124_31206127del	VUS	1 lab	5a59a3bbc9
6:123637652 TRDN C>T	6	123637652	123637652	C	T	TRDN	c.1472-12G>A	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123637652C>T	(Likely) benign	1 lab	5a617554be
10:96030316 PLCE1 A>C	10	96030316	96030316	A	C	PLCE1	c.4463A>C	NM_016341.3	NP_057425.3:p.(His1488Pro)	NC_000010.10:g.96030316A>C	VUS	1 lab	5a61f380e9
5:89999626 ADGRV1 G>A	5	89999626	89999626	G	A	ADGRV1	c.8286+14G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89999626G>A	(Likely) benign	1 lab	0894061d89
19:50750315 MYH14 C>G	19	50750315	50750315	C	G	MYH14	c.1265C>G	NM_001145809.1	NP_001139281.1:p.(Ala422Gly)	NC_000019.9:g.50750315C>G	VUS	1 lab	5a6417f743
X:25022915 ARX C>T	X	25022915	25022915	C	T	ARX				NC_000023.10:g.25022915C>T	VUS	1 lab	5a687c8c27
2:238271967 COL6A3 G>A	2	238271967	238271967	G	A	COL6A3	c.5992C>T	NM_004369.3	NP_004360.2:p.(Arg1998Ter)	NC_000002.11:g.238271967G>A	(Likely) pathogenic	1 lab	5a6ae0405b
17:3558567 CTNS C>T	17	3558567	3558567	C	T	CTNS	c.382C>T	NM_001031681.2	NP_001026851.2:p.(Gln128Ter)	NC_000017.10:g.3558567C>T	(Likely) pathogenic	1 lab	5a6b838f52
13:113772969 F7 C>T	13	113772969	113772969	C	T	F7	c.1048C>T	NM_000131.4	NP_000122.1:p.(Arg350Cys)	NC_000013.10:g.113772969C>T	(Likely) pathogenic	1 lab	5a6ea8c365
16:21696684 OTOA T>C	16	21696684	21696684	T	C	OTOA	c.399+2T>C	NM_144672.4	NP_653273.3:p.?	NC_000016.9:g.21696684T>C	(Likely) pathogenic	1 lab	5a744c4dbe
3:38794014 SCN10A C>A	3	38794014	38794014	C	A	SCN10A	c.1462-11G>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38794014C>A	(Likely) benign	1 lab	5a77321f8d
17:56348106 MPO T>C	17	56348106	56348106	T	C	MPO	c.2149A>G	NM_000250.1	NP_000241.1:p.(Ile717Val)	NC_000017.10:g.56348106T>C	(Likely) benign	1 lab	0899342c4e
2:48027641 MSH6 G>A	2	48027641	48027641	G	A	MSH6	c.2519G>A	NM_000179.3	NP_000170.1:p.(Ser840Asn)	NC_000002.11:g.48027641G>A	VUS	1 lab	5a7997a709
22:34316077 LARGE1 G>A	22	34316077	34316077	G	A	LARGE1	c.-177C>T	NM_133642.3	NP_598397.1:p.?	NC_000022.10:g.34316077G>A	(Likely) benign	1 lab	5a806ebe46
2:179529497 TTN T>G	2	179529497	179529497	T	G	TTN	c.36119-33A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529497T>G	(Likely) benign	1 lab	5a80a898d5
11:68580041 CPT1A C>T	11	68580041	68580041	C	T	CPT1A	c.145G>A	NM_001876.3	NP_001867.2:p.(Gly49Ser)	NC_000011.9:g.68580041C>T	(Likely) benign	1 lab	5a821d9768
9:35806426 NPR2 C>T	9	35806426	35806426	C	T	NPR2	c.2410C>T	NM_003995.3	NP_003986.2:p.(Arg804Cys)	NC_000009.11:g.35806426C>T	VUS	1 lab	5a838fe090
3:38739533 SCN10A A>G	3	38739533	38739533	A	G	SCN10A	c.5178T>C	NM_006514.4	NP_006505.4:p.(Asn1726=)	NC_000003.11:g.38739533A>G	(Likely) benign	1 lab	5a83d79be4
2:219857859 CRYBA2 G>A	2	219857859	219857859	G	A	CRYBA2	c.40C>T	NM_057093.2	NP_476434.1:p.(Leu14Phe)	NC_000002.11:g.219857859G>A	VUS	1 lab	5a857feb71
6:112435975 LAMA4 C>T	6	112435975	112435975	C	T	LAMA4	c.5113-16G>A	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112435975C>T	(Likely) benign	1 lab	5a862db427
4:120072063 MYOZ2 T>TC	4	120072063	120072067	T	TC	MYOZ2	c.117dup	NM_016599.4	NP_057683.1:p.(Arg40GlnfsTer13)	NC_000004.11:g.120072067dup	VUS	1 lab	5a86af4668
9:35800031 NPR2 G>A	9	35800031	35800031	G	A	NPR2	c.1000G>A	NM_003995.4	NP_003986.2:p.(Ala334Thr)	NC_000009.11:g.35800031G>A	(Likely) pathogenic	1 lab	5a88c1b7ed
21:38877655 DYRK1A C>T	21	38877655	38877655	C	T	DYRK1A	c.1309C>T	NM_001396.3	NP_001387.2:p.(Arg437Ter)	NC_000021.8:g.38877655C>T	(Likely) pathogenic	1 lab	5a897003f0
1:228464958 OBSCN G>A	1	228464958	228464958	G	A	OBSCN	c.7823G>A	NM_001386125.1	NP_001373054.1:p.(Gly2608Glu)	NC_000001.10:g.228464958G>A	VUS	1 lab	5a89ae4b46
9:139395003 NOTCH1 C>T	9	139395003	139395003	C	T	NOTCH1	c.5934+1G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139395003C>T	(Likely) pathogenic	1 lab	5a8d0e2eb8
2:179598432 TTN A>G	2	179598432	179598432	A	G	TTN	c.15684T>C	NM_001267550.2	NP_001254479.2:p.(Pro5228=)	NC_000002.11:g.179598432A>G	(Likely) benign	1 lab	5a90627a62
6:129674473 LAMA2 G>A	6	129674473	129674473	G	A	LAMA2	c.4688G>A	NM_000426.3	NP_000417.2:p.(Trp1563Ter)	NC_000006.11:g.129674473G>A	(Likely) pathogenic	1 lab	5a96b8893b
2:74605371 DCTN1 G>A	2	74605371	74605371	G	A	DCTN1	c.35C>T	NM_004082.5	NP_004073.2:p.(Thr12Met)	NC_000002.11:g.74605371G>A	VUS	1 lab	5a98986c53
7:128498694 FLNC A>C	7	128498694	128498694	A	C	FLNC	c.*117A>C	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128498694A>C	(Likely) benign	1 lab	5a9bc6e9f4
6:75825601 COL12A1 C>A	6	75825601	75825601	C	A	COL12A1	c.7596G>T	NM_004370.5	NP_004361.3:p.(Lys2532Asn)	NC_000006.11:g.75825601C>A	VUS	1 lab	5a9d89948b
16:31500279 SLC5A2 C>A	16	31500279	31500279	C	A	SLC5A2	c.1359C>A	NM_003041.3	NP_003032.1:p.(Phe453Leu)	NC_000016.9:g.31500279C>A	VUS	1 lab	5a9e35719c
18:3188778 MYOM1 C>T	18	3188778	3188778	C	T	MYOM1	c.739G>A	NM_003803.3	NP_003794.3:p.(Glu247Lys)	NC_000018.9:g.3188778C>T	(Likely) benign	1 lab	08a426e920
16:56536702 BBS2 G>A	16	56536702	56536702	G	A	BBS2	c.823C>T	NM_031885.3	NP_114091.3:p.(Arg275Ter)	NC_000016.9:g.56536702G>A	(Likely) pathogenic	1 lab	5aa13426e7
19:36322469 NPHS1 C>T	19	36322469	36322469	C	T	NPHS1	c.3287-67G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36322469C>T	(Likely) benign	1 lab	08a79f4fbd
1:6530823 PLEKHG5 G>A	1	6530823	6530823	G	A	PLEKHG5	c.1745C>T	NM_198681.3	NP_941374.2:p.(Pro582Leu)	NC_000001.10:g.6530823G>A	VUS	1 lab	5aa186a629
3:37061893 MLH1 T>A	3	37061893	37061893	T	A	MLH1	c.977T>A	NM_000249.3	NP_000240.1:p.(Val326Glu)	NC_000003.11:g.37061893T>A	VUS	1 lab	5aa334b378
10:73539102 CDH23 G>A	10	73539102	73539102	G	A	CDH23	c.5266G>A	NM_022124.5	NP_071407.4:p.(Glu1756Lys)	NC_000010.10:g.73539102G>A	VUS	1 lab	5aa3a7ed6b
3:123008651 ADCY5 C>G	3	123008651	123008651	C	G	ADCY5	c.3478G>C	NM_183357.2	NP_899200.1:p.(Asp1160His)	NC_000003.11:g.123008651C>G	VUS	1 lab	5aa48f40d3
15:85360377 ALPK3 C>G	15	85360377	85360377	C	G	ALPK3	c.300C>G	NM_020778.4	NP_065829.3:p.(Pro100=)	NC_000015.9:g.85360377C>G	(Likely) benign	1 lab	5aa50281ea
13:32912241 BRCA2 A>T	13	32912241	32912241	A	T	BRCA2	c.3749A>T	NM_000059.3	NP_000050.2:p.(Glu1250Val)	NC_000013.10:g.32912241A>T	(Likely) benign	1 lab	5aa6095be7
17:77102747 RBFOX3 G>A	17	77102747	77102747	G	A	RBFOX3	c.346C>T	NM_001082575.2	NP_001076044.1:p.(Arg116Trp)	NC_000017.10:g.77102747G>A	VUS	1 lab	5aade11591
3:15563253 COLQ C>T	3	15563253	15563253	C	T	COLQ	c.-121G>A	NM_005677.3	NP_005668.2:p.?	NC_000003.11:g.15563253C>T	(Likely) benign	1 lab	72c5257c17
17:7804658 CHD3 A>C	17	7804658	7804658	A	C	CHD3	c.3217A>C	NM_001005273.3	NP_001005273.1:p.(Lys1073Gln)	NC_000017.10:g.7804658A>C	VUS	1 lab	5aaf0ded98
6:123837283 TRDN T>C	6	123837283	123837283	T	C	TRDN	c.550+3A>G	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123837283T>C	(Likely) benign	1 lab	5aafb2222c
7:6777238 PMS2CL G>A	7	6777238	6777238	G	A	PMS2CL	n.617G>A	NR_002217.1		NC_000007.13:g.6777238G>A	VUS	1 lab	5ab2f00a4c
9:130982582 DNM1 C>T	9	130982582	130982582	C	T	DNM1				NC_000009.11:g.130982582C>T	(Likely) pathogenic	1 lab	5ab60f243b
3:122000977 CASR C>G	3	122000977	122000977	C	G	CASR	c.1626C>G	NM_000388.4	NP_000379.3:p.(Cys542Trp)	NC_000003.11:g.122000977C>G	(Likely) pathogenic	1 lab	5ab833e0a0
X:55040097 ALAS2 A>C	X	55040097	55040097	A	C	ALAS2	c.1438-16T>G	NM_000032.4	NP_000023.2:p.?	NC_000023.10:g.55040097A>C	(Likely) benign	1 lab	5abc4edd84
3:93617327 PROS1 C>T	3	93617327	93617327	C	T	PROS1	c.910G>A	NM_001314077.1	NP_001301006.1:p.(Gly304Arg)	NC_000003.11:g.93617327C>T	VUS	1 lab	5abe5a28e6
7:107314765 SLC26A4 C>T	7	107314765	107314765	C	T	SLC26A4	c.572C>T	NM_000441.1	NP_000432.1:p.(Ala191Val)	NC_000007.13:g.107314765C>T	VUS	1 lab	5ac7e1e4c1
20:62038335 KCNQ2 C>A	20	62038335	62038335	C	A	KCNQ2	c.2281G>T	NM_172107.3	NP_742105.1:p.(Ala761Ser)	NC_000020.10:g.62038335C>A	(Likely) benign	1 lab	5ac8f6334d
3:182810286 MCCC1 A>C	3	182810286	182810286	A	C	MCCC1	c.184T>G	NM_020166.4	NP_064551.3:p.(Cys62Gly)	NC_000003.11:g.182810286A>C	VUS	1 lab	5acb4677ea
10:13342034 PHYH C>T	10	13342034	13342034	C	T	PHYH	c.9G>A	NM_006214.3	NP_006205.1:p.(Gln3=)	NC_000010.10:g.13342034C>T	(Likely) benign	1 lab	5ace974389
19:42474685 ATP1A3 A>T	19	42474685	42474685	A	T	ATP1A3				NC_000019.9:g.42474685A>T	VUS	1 lab	5ad2443469
19:16596059 CALR3 A>G	19	16596059	16596059	A	G	CALR3	c.407T>C	NM_145046.4	NP_659483.2:p.(Ile136Thr)	NC_000019.9:g.16596059A>G	VUS	1 lab	5ad5d8b20f
2:238253094 COL6A3 A>T	2	238253094	238253094	A	T	COL6A3	c.7567T>A	NM_004369.3	NP_004360.2:p.(Ser2523Thr)	NC_000002.11:g.238253094A>T	VUS	1 lab	5ad68c4014
20:42740397 JPH2 C>G	20	42740397	42740397	C	G	JPH2	c.*1761G>C	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42740397C>G	(Likely) benign	1 lab	5adb90c5a8
X:38164045 RPGR T>C	X	38164045	38164045	T	C	RPGR	c.779-2A>G	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38164045T>C	(Likely) pathogenic	1 lab	5adc2c0939
11:118368694 KMT2A A>G	11	118368694	118368694	A	G	KMT2A	c.5708A>G	NM_001197104.1	NP_001184033.1:p.(His1903Arg)	NC_000011.9:g.118368694A>G	(Likely) pathogenic	1 lab	5ade821f61
17:29664600 NF1 G>T	17	29664600	29664600	G	T	NF1	c.6642G>T	NM_001042492.3	NP_001035957.1:p.(Glu2214Asp)	NC_000017.10:g.29664600G>T	(Likely) pathogenic	1 lab	5ae5687ec8
16:2156021 PKD1 A>G	16	2156021	2156021	A	G	PKD1	c.7708T>C	NM_001009944.2	NP_001009944.2:p.(Leu2570=)	NC_000016.9:g.2156021A>G	(Likely) benign	1 lab	5ae6df36f1
1:103354167 COL11A1 C>T	1	103354167	103354167	C	T	COL11A1	c.4574G>A	NM_001854.4	NP_001845.3:p.(Gly1525Asp)	NC_000001.10:g.103354167C>T	VUS	1 lab	5ae92ff84b
1:201012484 CACNA1S C>T	1	201012484	201012484	C	T	CACNA1S	c.4973G>A	NM_000069.2	NP_000060.2:p.(Arg1658His)	NC_000001.10:g.201012484C>T	(Likely) benign	1 lab	5ae9d29085
2:217279841 SMARCAL1 CTT>C	2	217279841	217279843	CTT	C	SMARCAL1	c.415_416del	NM_014140.3	NP_054859.2:p.(Leu139GlufsTer3)	NC_000002.11:g.217279842_217279843del	(Likely) pathogenic	1 lab	5ae9ddac85
10:50819178 SLC18A3 A>G	10	50819178	50819178	A	G	SLC18A3	c.392A>G	NM_003055.3	NP_003046.2:p.(Lys131Arg)	NC_000010.10:g.50819178A>G	(Likely) pathogenic	1 lab	5aeada6d83
6:110086288 FIG4 T>C	6	110086288	110086288	T	C	FIG4	c.1507T>C	NM_014845.5	NP_055660.1:p.(Cys503Arg)	NC_000006.11:g.110086288T>C	VUS	1 lab	08ac6a06e9
19:13386702 CACNA1A GA>G	19	13386702	13386704	GA	G	CACNA1A	c.3953del	NM_001127221.1	NP_001120693.1:p.(Phe1318SerfsTer2)	NC_000019.9:g.13386704del	(Likely) pathogenic	1 lab	5af729d2da
2:227953463 COL4A4 C>T	2	227953463	227953463	C	T	COL4A4	c.1529G>A	NM_000092.4	NP_000083.3:p.(Arg510Lys)	NC_000002.11:g.227953463C>T	(Likely) benign	1 lab	5af8c7b66b
3:37050397 MLH1 G>T	3	37050397	37050397	G	T	MLH1	c.545+1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37050397G>T	(Likely) pathogenic	1 lab	5af9428c42
19:8464770 RAB11B G>A	19	8464770	8464770	G	A	RAB11B	c.64G>A	NM_004218.3	NP_004209.2:p.(Val22Met)	NC_000019.9:g.8464770G>A	VUS	1 lab	5af9d3f2a6
2:44101538 ABCG8 C>CT	2	44101538	44101543	C	CT	ABCG8	c.1412-3dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101543dup	(Likely) benign	1 lab	5afa075ddd
3:57902729 SLMAP G>C	3	57902729	57902729	G	C	SLMAP	c.2184G>C	NM_001304420.2	NP_001291349.1:p.(Gln728His)	NC_000003.11:g.57902729G>C	VUS	1 lab	5afe12ebdd
16:21273358 CRYM C>A	16	21273358	21273358	C	A	CRYM	c.795G>T	NM_001888.4	NP_001879.1:p.(Gly265=)	NC_000016.9:g.21273358C>A	(Likely) benign	1 lab	5b03e7837e
15:43908762 STRC C>T	15	43908762	43908762	C	T	STRC	c.1002G>A	NM_153700.2	NP_714544.1:p.(Pro334=)	NC_000015.9:g.43908762C>T	(Likely) benign	1 lab	5b04fe2dc1
16:89349059 ANKRD11 GT>G	16	89349059	89349061	GT	G	ANKRD11	c.3890del	NM_013275.6	NP_037407.4:p.(Asn1297ThrfsTer21)	NC_000016.9:g.89349061del	(Likely) pathogenic	1 lab	5b0a78cd51
9:35805551 NPR2 G>A	9	35805551	35805551	G	A	NPR2	c.1931G>A	NM_003995.4	NP_003986.2:p.(Ser644Asn)	NC_000009.11:g.35805551G>A	VUS	1 lab	5b0b0156f0
8:68111234 MISSING G>A	8	68111234	68111234	G	A	MISSING				NC_000008.10:g.68111234G>A	VUS	1 lab	5d1112a439
X:153640230 TAFAZZIN G>T	X	153640230	153640230	G	T	TAFAZZIN	c.50G>T	NM_000116.4	NP_000107.1:p.(Trp17Leu)	NC_000023.10:g.153640230G>T	VUS	1 lab	5b1111809b
2:179453596 TTN A>C	2	179453596	179453596	A	C	TTN	c.62856T>G	NM_001267550.2	NP_001254479.2:p.(Ser20952Arg)	NC_000002.11:g.179453596A>C	VUS	1 lab	5b12f8c968
16:30715641 SRCAP G>A	16	30715641	30715641	G	A	SRCAP	c.306+5G>A	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30715641G>A	(Likely) benign	1 lab	5b154e2b06
12:6122808 VWF AC>A	12	6122808	6122809	AC	A	VWF	c.5458del	NM_000552.3	NP_000543.2:p.(Val1820Ter)	NC_000012.11:g.6122809del	(Likely) pathogenic	1 lab	5b1d2a3fa5
5:110818582 CAMK4 A>G	5	110818582	110818582	A	G	CAMK4	c.928A>G	NM_001744.5	NP_001735.1:p.(Met310Val)	NC_000005.9:g.110818582A>G	(Likely) pathogenic	1 lab	5b1df5f8ad
10:43620312 RET TGTCTGCTCTTCCCAC>T	10	43620312	43620327	TGTCTGCTCTTCCCAC	T	RET				NC_000010.10:g.43620313_43620327del	(Likely) pathogenic	1 lab	5b251bd213
6:32007840 TNXB C>T	6	32007840	32007840	C	T	TNXB				NC_000006.11:g.32007840C>T	(Likely) benign	1 lab	5b29ad96f1
4:153244092 FBXW7 G>A	4	153244092	153244092	G	A	FBXW7	c.2065C>T	NM_033632.3	NP_361014.1:p.(Arg689Trp)	NC_000004.11:g.153244092G>A	VUS	1 lab	5b2fcb643c
1:94522239 ABCA4 A>T	1	94522239	94522239	A	T	ABCA4				NC_000001.10:g.94522239A>T	(Likely) pathogenic	1 lab	5b32f79492
17:8064792 VAMP2 TATGATGATGATG>T	17	8064792	8064805	TATGATGATGATG	T	VAMP2	c.327_338del	NM_001330125.1	NP_001317054.1:p.(Ile110_Ile113del)	NC_000017.10:g.8064794_8064805del	VUS	1 lab	5b3351a442
2:179448327 TTN A>G	2	179448327	179448327	A	G	TTN	c.65575+7T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448327A>G	(Likely) benign	1 lab	5b339573b2
20:57429858 GNAS C>T	20	57429858	57429858	C	T	GNAS	c.1538C>T	NM_080425.3	NP_536350.2:p.(Ala513Val)	NC_000020.10:g.57429858C>T	VUS	1 lab	5b34055cd3
4:158282702 GRIA2 T>A	4	158282702	158282702	T	A	GRIA2	c.2406+426T>A	NM_001083619.3	NP_001077088.2:p.?	NC_000004.11:g.158282702T>A	(Likely) pathogenic	1 lab	5b37c20a1d
12:5154217 KCNA5 G>T	12	5154217	5154217	G	T	KCNA5	c.904G>T	NM_002234.3	NP_002225.2:p.(Gly302Trp)	NC_000012.11:g.5154217G>T	(Likely) benign	1 lab	5b387a95ad
2:179393829 TTN A>C	2	179393829	179393829	A	C	TTN	c.106649T>G	NM_001267550.2	NP_001254479.2:p.(Ile35550Ser)	NC_000002.11:g.179393829A>C	VUS	1 lab	5b38fda393
2:73675227 ALMS1 TCTC>T	2	73675227	73675230	TCTC	T	ALMS1	c.1574_1579del	NM_015120.4	NP_055935.4:p.(Ser525_Pro526del)	NC_000002.11:g.73675228_73675230del	(Likely) benign	1 lab	5b3912d2c9
14:45605574 FANCM G>T	14	45605574	45605574	G	T	FANCM	c.340G>T	NM_020937.2	NP_065988.1:p.(Gly114Ter)	NC_000014.8:g.45605574G>T	(Likely) pathogenic	1 lab	5b3c130b1a
X:48542249 WAS G>A	X	48542249	48542249	G	A	WAS	c.7G>A	NM_000377.2	NP_000368.1:p.(Gly3Arg)	NC_000023.10:g.48542249G>A	VUS	1 lab	5b3e6aa67e
8:75275247 GDAP1 A>G	8	75275247	75275247	A	G	GDAP1	c.653A>G	NM_018972.2	NP_061845.2:p.(Gln218Arg)	NC_000008.10:g.75275247A>G	VUS	1 lab	5b3ede0122
1:196797238 CFHR1 C>T	1	196797238	196797238	C	T	CFHR1	c.469C>T	NM_002113.2	NP_002104.2:p.(His157Tyr)	NC_000001.10:g.196797238C>T	(Likely) benign	1 lab	5b417c0443
13:20638677 ZMYM2 A>T	13	20638677	20638677	A	T	ZMYM2	c.3124A>T	NM_001353162.3	NP_001340091.1:p.(Lys1042Ter)	NC_000013.10:g.20638677A>T	(Likely) pathogenic	1 lab	5b46bc9b4a
15:89383335 ACAN G>A	15	89383335	89383335	G	A	ACAN	c.547G>A	NM_001369268.1	NP_001356197.1:p.(Ala183Thr)	NC_000015.9:g.89383335G>A	(Likely) pathogenic	1 lab	5b497156be
10:112769464 SHOC2 C>T	10	112769464	112769464	C	T	SHOC2	c.1423-7C>T	NM_007373.3	NP_031399.2:p.?	NC_000010.10:g.112769464C>T	(Likely) benign	1 lab	5b4ac7477e
16:31501889 SLC5A2 C>G	16	31501889	31501889	C	G	SLC5A2	c.*33C>G	NM_003041.3	NP_003032.1:p.?	NC_000016.9:g.31501889C>G	(Likely) benign	1 lab	5b4eff9dec
16:23646316 PALB2 T>C	16	23646316	23646316	T	C	PALB2	c.1551A>G	NM_024675.3	NP_078951.2:p.(Lys517=)	NC_000016.9:g.23646316T>C	(Likely) benign	1 lab	5b515588dd
12:6180473 VWF T>C	12	6180473	6180473	T	C	VWF	c.1146A>G	NM_000552.4	NP_000543.2:p.(Glu382=)	NC_000012.11:g.6180473T>C	(Likely) benign	1 lab	08afcdf115
1:2160533 SKI A>G	1	2160533	2160533	A	G	SKI	c.328A>G	NM_003036.3	NP_003027.1:p.(Ile110Val)	NC_000001.10:g.2160533A>G	VUS	1 lab	5b53a13c8e
10:112572603 RBM20 G>C	10	112572603	112572603	G	C	RBM20	c.2448G>C	NM_001134363.3	NP_001127835.2:p.(Glu816Asp)	NC_000010.10:g.112572603G>C	(Likely) benign	1 lab	5b5566fb05
20:45354853 SLC2A10 C>G	20	45354853	45354853	C	G	SLC2A10	c.1178C>G	NM_030777.4	NP_110404.1:p.(Ser393Cys)	NC_000020.10:g.45354853C>G	(Likely) benign	1 lab	08b11f0267
1:156105890 LMNA C>T	1	156105890	156105890	C	T	LMNA	c.1135C>T	NM_170707.4	NP_733821.1:p.(Leu379Phe)	NC_000001.10:g.156105890C>T	(Likely) pathogenic	1 lab	5b5fcc627b
13:28197436 POLR1D C>T	13	28197436	28197436	C	T	POLR1D				NC_000013.10:g.28197436C>T	(Likely) benign	1 lab	5b61741e76
15:85400204 ALPK3 G>A	15	85400204	85400204	G	A	ALPK3	c.2841G>A	NM_020778.4	NP_065829.3:p.(Ala947=)	NC_000015.9:g.85400204G>A	(Likely) benign	1 lab	5b6373cccc
11:119213303 MFRP C>T	11	119213303	119213303	C	T	MFRP	c.1387+3G>A	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119213303C>T	(Likely) benign	1 lab	5b6481fbd0
7:6017282 PMS2 A>G	7	6017282	6017282	A	G	PMS2	c.2382T>C	NM_000535.7	NP_000526.2:p.(Pro794=)	NC_000007.13:g.6017282A>G	(Likely) benign	1 lab	5b656307d6
2:47703668 MSH2 C>A	2	47703668	47703668	C	A	MSH2	c.2168C>A	NM_000251.2	NP_000242.1:p.(Ser723Tyr)	NC_000002.11:g.47703668C>A	VUS	1 lab	5b66082a1e
20:33585210 MYH7B C>T	20	33585210	33585210	C	T	MYH7B	c.3640C>T	NM_020884.4	NP_065935.3:p.(Arg1214Cys)	NC_000020.10:g.33585210C>T	(Likely) benign	1 lab	5b66f4f1b7
3:52179931 POC1A C>T	3	52179931	52179931	C	T	POC1A	c.610G>A	NM_015426.5	NP_056241.3:p.(Ala204Thr)	NC_000003.11:g.52179931C>T	VUS	1 lab	5b679ac106
16:8906832 PMM2 C>T	16	8906832	8906832	C	T	PMM2	c.524-16C>T	NM_000303.2	NP_000294.1:p.?	NC_000016.9:g.8906832C>T	(Likely) benign	1 lab	5b682471e2
17:17118316 FLCN G>A	17	17118316	17118316	G	A	FLCN	c.1521C>T	NM_144997.7	NP_659434.2:p.(Leu507=)	NC_000017.10:g.17118316G>A	(Likely) benign	1 lab	5b6b5df923
15:50931680 TRPM7 T>C	15	50931680	50931680	T	C	TRPM7	c.601A>G	NM_017672.6	NP_060142.3:p.(Thr201Ala)	NC_000015.9:g.50931680T>C	(Likely) benign	1 lab	5b6bc2d02a
16:56921007 SLC12A3 T>C	16	56921007	56921007	T	C	SLC12A3	c.2178+2T>C	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56921007T>C	(Likely) pathogenic	1 lab	5b6ce35214
X:154493386 MISSING C>G	X	154493386	154493386	C	G	MISSING				NC_000023.10:g.154493386C>G	VUS	1 lab	5d40965560
2:100368748 AFF3 GA>G	2	100368748	100368750	GA	G	AFF3	c.936del	NM_002285.2	NP_002276.2:p.(Pro313HisfsTer60)	NC_000002.11:g.100368750del	(Likely) pathogenic	1 lab	5b6eed1b41
15:28230254 OCA2 C>G	15	28230254	28230254	C	G	OCA2	c.1320G>C	NM_000275.2	NP_000266.2:p.(Leu440Phe)	NC_000015.9:g.28230254C>G	VUS	1 lab	5b6f5e000c
7:148511213 EZH2 C>T	7	148511213	148511213	C	T	EZH2	c.1689G>A	NM_004456.4	NP_004447.2:p.(Pro563=)	NC_000007.13:g.148511213C>T	VUS	1 lab	5b72ce5fbc
12:21968714 ABCC9 T>G	12	21968714	21968714	T	G	ABCC9	c.4006A>C	NM_005691.3	NP_005682.2:p.(Ile1336Leu)	NC_000012.11:g.21968714T>G	VUS	1 lab	5b7392dd74
3:37090410 MLH1 G>T	3	37090410	37090410	G	T	MLH1	c.2005G>T	NM_000249.3	NP_000240.1:p.(Glu669Ter)	NC_000003.11:g.37090410G>T	(Likely) pathogenic	1 lab	5b7910ed7e
17:33434002 RAD51D C>T	17	33434002	33434002	C	T	RAD51D	c.480+5G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33434002C>T	VUS	1 lab	5b796bc52c
3:37042443 MLH1 C>G	3	37042443	37042443	C	G	MLH1	c.208-3C>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37042443C>G	(Likely) pathogenic	1 lab	5b7d7dceb0
15:93527670 CHD2 G>C	15	93527670	93527670	G	C	CHD2				NC_000015.9:g.93527670G>C	VUS	1 lab	5b7e2d9349
2:170361040 BBS5 A>G	2	170361040	170361040	A	G	BBS5	c.974A>G	NM_152384.3	NP_689597.1:p.(Glu325Gly)	NC_000002.11:g.170361040A>G	(Likely) pathogenic	1 lab	5b8023cb16
22:24145531 SMARCB1 G>T	22	24145531	24145531	G	T	SMARCB1	c.550G>T	NM_003073.3	NP_003064.2:p.(Glu184Ter)	NC_000022.10:g.24145531G>T	(Likely) pathogenic	1 lab	5b83124f22
10:114911625 TCF7L2 C>G	10	114911625	114911625	C	G	TCF7L2	c.1143C>G	NM_001146274.1	NP_001139746.1:p.(Asn381Lys)	NC_000010.10:g.114911625C>G	VUS	1 lab	5b854e4203
11:47356666 MYBPC3 C>T	11	47356666	47356666	C	T	MYBPC3	c.2832G>A	NM_000256.3	NP_000247.2:p.(Val944=)	NC_000011.9:g.47356666C>T	(Likely) benign	1 lab	5b8f0f12e8
14:64519405 SYNE2 A>G	14	64519405	64519405	A	G	SYNE2	c.8774A>G	NM_182914.2	NP_878918.2:p.(Asn2925Ser)	NC_000014.8:g.64519405A>G	(Likely) benign	1 lab	5b8fb49de6
11:61735118 FTH1 C>T	11	61735118	61735118	C	T	FTH1	c.-221G>A	NM_002032.2	NP_002023.2:p.?	NC_000011.9:g.61735118C>T	VUS	1 lab	5b91ea79d9
19:54387417 PRKCG T>C	19	54387417	54387417	T	C	PRKCG	c.205T>C	NM_001316329.1	NP_001303258.1:p.(Cys69Arg)	NC_000019.9:g.54387417T>C	VUS	1 lab	5b93e84371
11:103093775 DYNC2H1 C>T	11	103093775	103093775	C	T	DYNC2H1	c.9313C>T	NM_001080463.1	NP_001073932.1:p.(Arg3105Ter)	NC_000011.9:g.103093775C>T	(Likely) pathogenic	1 lab	5b96252b70
13:52508876 ATP7B C>T	13	52508876	52508876	C	T	ATP7B	c.*16G>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52508876C>T	(Likely) benign	1 lab	08b7ad4931
X:107829906 COL4A5 G>C	X	107829906	107829906	G	C	COL4A5	c.1094G>C	NM_033380.2	NP_203699.1:p.(Gly365Ala)	NC_000023.10:g.107829906G>C	(Likely) pathogenic	1 lab	5b9dcc6bd6
8:36793210 KCNU1 T>A	8	36793210	36793210	T	A	KCNU1	c.3222T>A	NM_001031836.3	NP_001027006.2:p.(Cys1074Ter)	NC_000008.10:g.36793210T>A	VUS	1 lab	5b9ed25c9e
14:24725217 TGM1 T>C	14	24725217	24725217	T	C	TGM1	c.1469A>G	NM_000359.3	NP_000350.1:p.(Asp490Gly)	NC_000014.8:g.24725217T>C	(Likely) pathogenic	1 lab	5ba1b44bff
16:89350644 ANKRD11 G>C	16	89350644	89350644	G	C	ANKRD11	c.2306C>G	NM_001256182.1	NP_001243111.1:p.(Ser769Ter)	NC_000016.9:g.89350644G>C	(Likely) pathogenic	1 lab	5ba7f597c0
15:48762919 FBN1 GA>G	15	48762919	48762920	GA	G	FBN1	c.4370del	NM_000138.4	NP_000129.3:p.(Val1457AlafsTer18)	NC_000015.9:g.48762920del	(Likely) pathogenic	1 lab	5bab1ec34b
3:38646253 SCN5A G>A	3	38646253	38646253	G	A	SCN5A	c.1485C>T	NM_198056.2	NP_932173.1:p.(Pro495=)	NC_000003.11:g.38646253G>A	(Likely) benign	1 lab	5bac29a301
18:29101146 DSG2 A>G	18	29101146	29101146	A	G	DSG2	c.463A>G	NM_001943.4	NP_001934.2:p.(Asn155Asp)	NC_000018.9:g.29101146A>G	VUS	1 lab	5baf92ffaf
17:41226508 BRCA1 A>G	17	41226508	41226508	A	G	BRCA1	c.4515T>C	NM_007294.3	NP_009225.1:p.(Asp1505=)	NC_000017.10:g.41226508A>G	(Likely) benign	1 lab	5bb3f8032c
1:17350504 SDHB G>A	1	17350504	17350504	G	A	SDHB	c.606C>T	NM_003000.3	NP_002991.2:p.(Asn202=)	NC_000001.10:g.17350504G>A	(Likely) benign	1 lab	5bb709297f
16:30100295 TBX6 A>C	16	30100295	30100295	A	C	TBX6	c.590T>G	NM_004608.3	NP_004599.2:p.(Leu197Arg)	NC_000016.9:g.30100295A>C	VUS	1 lab	5bb838c0dd
5:54527437 CCNO A>C	5	54527437	54527437	A	C	CCNO	c.819T>G	NM_021147.5	NP_066970.3:p.(Tyr273Ter)	NC_000005.9:g.54527437A>C	(Likely) pathogenic	1 lab	5bc86528af
3:4824393 ITPR1 G>A	3	4824393	4824393	G	A	ITPR1	c.6289G>A	NM_002222.7	NP_002213.5:p.(Val2097Met)	NC_000003.11:g.4824393G>A	(Likely) benign	1 lab	5bd60223bc
5:92920802 NR2F1 C>G	5	92920802	92920802	C	G	NR2F1	c.73C>G	NM_005654.5	NP_005645.1:p.(Pro25Ala)	NC_000005.9:g.92920802C>G	VUS	1 lab	5bd911ee71
12:49418462 KMT2D A>C	12	49418462	49418462	A	C	KMT2D	c.15951T>G	NM_003482.4	NP_003473.3:p.(Tyr5317Ter)	NC_000012.11:g.49418462A>C	(Likely) pathogenic	1 lab	5bdaa61218
19:46056999 OPA3 G>C	19	46056999	46056999	G	C	OPA3	c.313C>G	NM_025136.3	NP_079412.1:p.(Gln105Glu)	NC_000019.9:g.46056999G>C	(Likely) pathogenic	1 lab	5bdc11abb6
11:66457696 SPTBN2 G>C	11	66457696	66457696	G	C	SPTBN2	c.5624C>G	NM_006946.3	NP_008877.1:p.(Ala1875Gly)	NC_000011.9:g.66457696G>C	VUS	1 lab	5be18cd343
19:50098218 PRR12 CA>C	19	50098218	50098219	CA	C	PRR12	c.627del	NM_020719.3	NP_065770.1:p.(Gly211AlafsTer104)	NC_000019.9:g.50098219del	(Likely) pathogenic	1 lab	5be79f85da
2:167055438 SCN9A C>T	2	167055438	167055438	C	T	SCN9A	c.5711G>A	NM_001365536.1	NP_001352465.1:p.(Arg1904His)	NC_000002.11:g.167055438C>T	(Likely) benign	1 lab	5be901883c
10:61834596 ANK3 T>C	10	61834596	61834596	T	C	ANK3	c.6043A>G	NM_020987.3	NP_066267.2:p.(Arg2015Gly)	NC_000010.10:g.61834596T>C	VUS	1 lab	5be9860542
1:198687384 PTPRC G>A	1	198687384	198687384	G	A	PTPRC	c.1612G>A	NM_002838.5	NP_002829.3:p.(Asp538Asn)	NC_000001.10:g.198687384G>A	(Likely) benign	1 lab	08b9a6c9a6
10:101489476 COX15 G>A	10	101489476	101489476	G	A	COX15	c.106C>T	NM_078470.5	NP_510870.1:p.(Arg36Cys)	NC_000010.10:g.101489476G>A	(Likely) benign	1 lab	5beb0f4209
19:35775758 HAMP G>A	19	35775758	35775758	G	A	HAMP	c.150+7G>A	NM_021175.2	NP_066998.1:p.?	NC_000019.9:g.35775758G>A	(Likely) benign	1 lab	5bebbe8837
6:84566957 RIPPLY2 T>G	6	84566957	84566957	T	G	RIPPLY2	c.240-4T>G	NM_001009994.2	NP_001009994.1:p.?	NC_000006.11:g.84566957T>G	(Likely) pathogenic	1 lab	5bee45722b
3:183963079 ALG3 C>T	3	183963079	183963079	C	T	ALG3	c.512G>A	NM_005787.5	NP_005778.1:p.(Arg171Gln)	NC_000003.11:g.183963079C>T	(Likely) pathogenic	1 lab	5bef70be6c
4:68620023 GNRHR GA>TT	4	68620023	68620024	GA	TT	GNRHR	c.30_31delinsAA	NM_000406.2	NP_000397.1:p.(Asn10_Gln11delinsLysLys)	NC_000004.11:g.68620023_68620024delinsTT	(Likely) pathogenic	1 lab	5bf0830be9
22:37466565 TMPRSS6 G>A	22	37466565	37466565	G	A	TMPRSS6	c.1827C>T	NM_153609.3	NP_705837.1:p.(Asp609=)	NC_000022.10:g.37466565G>A	(Likely) benign	1 lab	5bf41e94c9
1:228496023 OBSCN C>T	1	228496023	228496023	C	T	OBSCN	c.15549C>T	NM_001271223.2	NP_001258152.2:p.(Asp5183=)	NC_000001.10:g.228496023C>T	(Likely) benign	1 lab	5bf5258b06
15:44943710 SPG11 G>T	15	44943710	44943710	G	T	SPG11	c.1435C>A	NM_025137.3	NP_079413.3:p.(Gln479Lys)	NC_000015.9:g.44943710G>T	VUS	1 lab	5bfbcbf098
11:128710094 KCNJ1 C>T	11	128710094	128710094	C	T	KCNJ1				NC_000011.9:g.128710094C>T	(Likely) benign	1 lab	5bfc921161
15:80450485 FAH C>T	15	80450485	80450485	C	T	FAH	c.165C>T	NM_000137.4	NP_000128.1:p.(Leu55=)	NC_000015.9:g.80450485C>T	(Likely) benign	1 lab	08bc5b17cf
12:132426300 PUS1 G>A	12	132426300	132426300	G	A	PUS1	c.1008G>A	NM_025215.6	NP_079491.2:p.(Glu336=)	NC_000012.11:g.132426300G>A	(Likely) benign	1 lab	08bc76c05e
5:34937473 DNAJC21 C>CA	5	34937473	34937477	C	CA	DNAJC21	c.485dup	NM_194283.3	NP_919259.3:p.(Asn163GlufsTer9)	NC_000005.9:g.34937477dup	(Likely) pathogenic	1 lab	5c0e26795c
10:88635778 BMPR1A G>A	10	88635778	88635778	G	A	BMPR1A	c.3G>A	NM_004329.2	NP_004320.2:p.(Met1?)	NC_000010.10:g.88635778G>A	(Likely) pathogenic	1 lab	5c1940a7cf
3:38627658 SCN5A T>TC	3	38627658	38627666	T	TC	SCN5A	c.2437-127dup	NM_001099404.1	NP_001092874.1:p.?	NC_000003.11:g.38627666dup	(Likely) benign	1 lab	08bf937399
12:50357908 AQP5 C>T	12	50357908	50357908	C	T	AQP5	c.562C>T	NM_001651.3	NP_001642.1:p.(Arg188Cys)	NC_000012.11:g.50357908C>T	(Likely) pathogenic	1 lab	5c198d7cf5
1:231557120 EGLN1 G>A	1	231557120	231557120	G	A	EGLN1	c.515C>T	NM_022051.3	NP_071334.1:p.(Ala172Val)	NC_000001.10:g.231557120G>A	(Likely) benign	1 lab	5c1e27a7dd
X:15349871 PIGA A>G	X	15349871	15349871	A	G	PIGA				NC_000023.10:g.15349871A>G	(Likely) pathogenic	1 lab	5c20b771d5
14:102496222 DYNC1H1 A>G	14	102496222	102496222	A	G	DYNC1H1	c.9709A>G	NM_001376.4	NP_001367.2:p.(Asn3237Asp)	NC_000014.8:g.102496222A>G	(Likely) pathogenic	1 lab	5c2213729c
5:82832825 VCAN G>A	5	82832825	82832825	G	A	VCAN	c.4004-1G>A	NM_004385.4	NP_004376.2:p.?	NC_000005.9:g.82832825G>A	(Likely) pathogenic	1 lab	5c263e675e
22:21343948 LZTR1 C>T	22	21343948	21343948	C	T	LZTR1	c.628C>T	NM_006767.4	NP_006758.2:p.(Arg210Ter)	NC_000022.10:g.21343948C>T	(Likely) pathogenic	1 lab	5c270c53ad
12:6094300 VWF C>T	12	6094300	6094300	C	T	VWF	c.6902-15G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6094300C>T	(Likely) benign	1 lab	5c6e9ccbbd
2:228162547 COL4A3 T>C	2	228162547	228162547	T	C	COL4A3	c.3723T>C	NM_000091.4	NP_000082.2:p.(Arg1241=)	NC_000002.11:g.228162547T>C	(Likely) benign	1 lab	5c27939c82
2:179578788 TTN T>C	2	179578788	179578788	T	C	TTN	c.26597A>G	NM_001267550.2	NP_001254479.2:p.(Asp8866Gly)	NC_000002.11:g.179578788T>C	VUS	1 lab	5c2bd20e39
X:13754745 OFD1 A>G	X	13754745	13754745	A	G	OFD1	c.260A>G	NM_003611.2	NP_003602.1:p.(Tyr87Cys)	NC_000023.10:g.13754745A>G	(Likely) pathogenic	1 lab	5c2dc320ab
2:215645930 BARD1 T>C	2	215645930	215645930	T	C	BARD1	c.668A>G	NM_000465.4	NP_000456.2:p.(Glu223Gly)	NC_000002.11:g.215645930T>C	(Likely) benign	1 lab	5c2e39abb3
20:18522933 SEC23B C>T	20	18522933	18522933	C	T	SEC23B	c.1405-7C>T	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18522933C>T	(Likely) benign	1 lab	5c3316bd37
1:236917282 ACTN2 G>A	1	236917282	236917282	G	A	ACTN2	c.1875G>A	NM_001103.3	NP_001094.1:p.(Leu625=)	NC_000001.10:g.236917282G>A	(Likely) benign	1 lab	5c347661ec
12:6167036 VWF A>G	12	6167036	6167036	A	G	VWF	c.1708T>C	NM_000552.3	NP_000543.2:p.(Cys570Arg)	NC_000012.11:g.6167036A>G	(Likely) pathogenic	1 lab	5c35ae9d87
1:17345493 SDHB G>A	1	17345493	17345493	G	A	SDHB	c.766-40C>T	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17345493G>A	(Likely) benign	1 lab	5c363f656a
4:15992882 PROM1 G>A	4	15992882	15992882	G	A	PROM1				NC_000004.11:g.15992882G>A	VUS	1 lab	5c3b2fb18d
7:15584409 AGMO G>A	7	15584409	15584409	G	A	AGMO	c.397C>T	NM_001004320.1	NP_001004320.1:p.(Arg133Cys)	NC_000007.13:g.15584409G>A	VUS	1 lab	5c3e59e100
16:2551015 TBC1D24 C>T	16	2551015	2551015	C	T	TBC1D24	c.*56C>T	NM_001199107.1	NP_001186036.1:p.?	NC_000016.9:g.2551015C>T	(Likely) benign	1 lab	5c3f8b9838
16:2138143 TSC2 G>C	16	2138143	2138143	G	C	TSC2	c.5160+3G>C	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2138143G>C	(Likely) pathogenic	1 lab	5c41d2be14
12:48391485 COL2A1 G>C	12	48391485	48391485	G	C	COL2A1	c.435C>G	NM_001844.4	NP_001835.3:p.(Ala145=)	NC_000012.11:g.48391485G>C	(Likely) benign	1 lab	5c484439ad
13:113771917 F7 A>G	13	113771917	113771917	A	G	F7	c.805+7A>G	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113771917A>G	(Likely) benign	1 lab	5c4a18878b
X:110644391 DCX G>T	X	110644391	110644391	G	T	DCX	c.532C>A	NM_001195553.2	NP_001182482.1:p.(Arg178Ser)	NC_000023.10:g.110644391G>T	(Likely) pathogenic	1 lab	5c4b7526a8
20:45354904 SLC2A10 G>A	20	45354904	45354904	G	A	SLC2A10	c.1229G>A	NM_030777.3	NP_110404.1:p.(Trp410Ter)	NC_000020.10:g.45354904G>A	(Likely) pathogenic	1 lab	5c4e52b7c9
6:10587056 GCNT2 A>G	6	10587056	10587056	A	G	GCNT2	c.834A>G	NM_145655.3	NP_663630.2:p.(Leu278=)	NC_000006.11:g.10587056A>G	(Likely) benign	1 lab	5c4f7522e5
7:138417642 ATP6V0A4 C>T	7	138417642	138417642	C	T	ATP6V0A4	c.1888G>A	NM_020632.2	NP_065683.2:p.(Ala630Thr)	NC_000007.13:g.138417642C>T	(Likely) benign	1 lab	5c501f5d78
4:78989630 FRAS1 G>A	4	78989630	78989630	G	A	FRAS1	c.108+2460G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78989630G>A	(Likely) benign	1 lab	08c9218703
4:114213575 ANK2 G>A	4	114213575	114213575	G	A	ANK2	c.2281G>A	NM_001148.5	NP_001139.3:p.(Gly761Ser)	NC_000004.11:g.114213575G>A	VUS	1 lab	5c50ac806b
11:36595232 RAG1 A>G	11	36595232	36595232	A	G	RAG1	c.378A>G	NM_000448.2	NP_000439.1:p.(Arg126=)	NC_000011.9:g.36595232A>G	VUS	1 lab	38029f5a19
22:42606519 TCF20 G>GT	22	42606519	42606524	G	GT	TCF20	c.4792dup	NM_001378418.1	NP_001365347.1:p.(Thr1598AsnfsTer14)	NC_000022.10:g.42606524dup	(Likely) pathogenic	1 lab	5c52196ebd
19:41938261 DMAC2 G>C	19	41938261	41938261	G	C	DMAC2	c.649C>G	NM_018035.3	NP_060505.2:p.(Leu217Val)	NC_000019.9:g.41938261G>C	VUS	1 lab	0f9fba2f47
10:89692923 PTEN G>A	10	89692923	89692923	G	A	PTEN	c.407G>A	NM_000314.4	NP_000305.3:p.(Cys136Tyr)	NC_000010.10:g.89692923G>A	(Likely) pathogenic	1 lab	5c7d253ff2
12:48371882 COL2A1 C>T	12	48371882	48371882	C	T	COL2A1	c.3022G>A	NM_001844.5	NP_001835.3:p.(Gly1008Ser)	NC_000012.11:g.48371882C>T	(Likely) pathogenic	1 lab	5c5650cd0a
7:4825314 AP5Z1 C>T	7	4825314	4825314	C	T	AP5Z1				NC_000007.13:g.4825314C>T	(Likely) benign	1 lab	5c5806c266
X:11783713 MSL3 C>T	X	11783713	11783713	C	T	MSL3	c.1036C>T	NM_078629.3	NP_523353.2:p.(Gln346Ter)	NC_000023.10:g.11783713C>T	(Likely) pathogenic	1 lab	5c58e949bc
13:110804718 COL4A1 A>C	13	110804718	110804718	A	C	COL4A1				NC_000013.10:g.110804718A>C	VUS	1 lab	5c5d49387a
16:2225881 TRAF7 C>G	16	2225881	2225881	C	G	TRAF7	c.1673C>G	NM_032271.3	NP_115647.2:p.(Ser558Cys)	NC_000016.9:g.2225881C>G	(Likely) pathogenic	1 lab	5c6a3c8613
2:98962749 CNGA3 C>T	2	98962749	98962749	C	T	CNGA3	c.-286C>T	NM_001298.2	NP_001289.1:p.?	NC_000002.11:g.98962749C>T	(Likely) benign	1 lab	5c6d025f15
12:6140745 VWF C>T	12	6140745	6140745	C	T	VWF	c.2686-1G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6140745C>T	(Likely) pathogenic	1 lab	5c731adcc3
1:7806105 CAMTA1 T>C	1	7806105	7806105	T	C	CAMTA1	c.4571T>C	NM_015215.3	NP_056030.1:p.(Leu1524Pro)	NC_000001.10:g.7806105T>C	VUS	1 lab	5c7378d494
10:78850204 KCNMA1 G>T	10	78850204	78850204	G	T	KCNMA1	c.1288C>A	NM_001014797.2	NP_001014797.1:p.(His430Asn)	NC_000010.10:g.78850204G>T	(Likely) benign	1 lab	5c748a567e
21:43803170 TMPRSS3 T>C	21	43803170	43803170	T	C	TMPRSS3	c.754A>G	NM_024022.2	NP_076927.1:p.(Ile252Val)	NC_000021.8:g.43803170T>C	VUS	1 lab	5c78677d21
11:2906376 CDKN1C A>C	11	2906376	2906376	A	C	CDKN1C	c.344T>G	NM_000076.2	NP_000067.1:p.(Val115Gly)	NC_000011.9:g.2906376A>C	(Likely) benign	1 lab	5c7d3d7a0a
14:77732923 NGB C>T	14	77732923	77732923	C	T	NGB	c.412G>A	NM_021257.3	NP_067080.1:p.(Gly138Arg)	NC_000014.8:g.77732923C>T	(Likely) benign	1 lab	5c7f0b464d
3:186288755 DNAJB11 G>A	3	186288755	186288755	G	A	DNAJB11	c.68+1G>A	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186288755G>A	(Likely) pathogenic	1 lab	08cd879d40
6:107566787 PDSS2 C>T	6	107566787	107566787	C	T	PDSS2	c.667G>A	NM_020381.4	NP_065114.3:p.(Val223Ile)	NC_000006.11:g.107566787C>T	(Likely) benign	1 lab	08d153e87d
12:80328575 PPP1R12A G>A	12	80328575	80328575	G	A	PPP1R12A	c.137C>T	NM_002480.3	NP_002471.1:p.(Ala46Val)	NC_000012.11:g.80328575G>A	VUS	1 lab	5c8b37623a
1:152277717 FLG C>A	1	152277717	152277717	C	A	FLG	c.9645G>T	NM_002016.1	NP_002007.1:p.(Val3215=)	NC_000001.10:g.152277717C>A	(Likely) benign	1 lab	5c8c459f47
4:178360805 AGA G>A	4	178360805	178360805	G	A	AGA	c.319C>T	NM_000027.3	NP_000018.2:p.(Arg107Ter)	NC_000004.11:g.178360805G>A	(Likely) pathogenic	1 lab	5c8e1aa8d4
7:6026740 PMS2 A>G	7	6026740	6026740	A	G	PMS2				NC_000007.13:g.6026740A>G	(Likely) benign	1 lab	5c8f316825
1:152274685 FLG T>A	1	152274685	152274685	T	A	FLG	c.*491A>T	NM_002016.1	NP_002007.1:p.?	NC_000001.10:g.152274685T>A	(Likely) benign	1 lab	5c900b0b5f
X:585090 SHOX G>T	X	585090	585090	G	T	SHOX	c.-680G>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585090G>T	(Likely) benign	1 lab	5c9782dd92
2:32352051 SPAST T>G	2	32352051	32352051	T	G	SPAST	c.1133T>G	NM_014946.3	NP_055761.2:p.(Leu378Arg)	NC_000002.11:g.32352051T>G	VUS	1 lab	5c9da21ef3
X:21444677 CNKSR2 C>T	X	21444677	21444677	C	T	CNKSR2	c.127C>T	NM_014927.3	NP_055742.2:p.(Gln43Ter)	NC_000023.10:g.21444677C>T	(Likely) pathogenic	1 lab	5ca159e0e8
11:118348733 KMT2A T>C	11	118348733	118348733	T	C	KMT2A	c.3386T>C	NM_001197104.1	NP_001184033.1:p.(Ile1129Thr)	NC_000011.9:g.118348733T>C	(Likely) benign	1 lab	5ca2f4b5d8
6:91266237 MAP3K7 C>T	6	91266237	91266237	C	T	MAP3K7	c.589G>A	NM_145331.2	NP_663304.1:p.(Ala197Thr)	NC_000006.11:g.91266237C>T	(Likely) pathogenic	1 lab	5ca60f71d6
17:41246468 BRCA1 G>T	17	41246468	41246468	G	T	BRCA1	c.1080C>A	NM_007294.3	NP_009225.1:p.(Cys360Ter)	NC_000017.10:g.41246468G>T	(Likely) pathogenic	1 lab	5ca7da0d96
6:65612113 EYS C>T	6	65612113	65612113	C	T	EYS	c.2739G>A	NM_001142800.1	NP_001136272.1:p.(Arg913=)	NC_000006.11:g.65612113C>T	(Likely) benign	1 lab	5ca807f587
3:38991694 SCN11A G>A	3	38991694	38991694	G	A	SCN11A	c.160C>T	NM_014139.2	NP_054858.2:p.(Leu54Phe)	NC_000003.11:g.38991694G>A	(Likely) benign	1 lab	5cac334ca1
2:167060894 SCN9A T>TG	2	167060894	167060896	T	TG	SCN9A	c.4445dup	NM_002977.3	NP_002968.1:p.(Gln1483ThrfsTer17)	NC_000002.11:g.167060896dup	(Likely) pathogenic	1 lab	5caf295f80
2:230723772 TRIP12 G>C	2	230723772	230723772	G	C	TRIP12				NC_000002.11:g.230723772G>C	VUS	1 lab	5d09f7a145
12:58145430 CDK4 C>T	12	58145430	58145430	C	T	CDK4				NC_000012.11:g.58145430C>T	(Likely) pathogenic	1 lab	5cbd4b81e9
3:47033994 NBEAL2 G>A	3	47033994	47033994	G	A	NBEAL2	c.1062G>A	NM_015175.2	NP_055990.1:p.(Glu354=)	NC_000003.11:g.47033994G>A	(Likely) benign	1 lab	08d51c0c2b
17:56798103 RAD51C G>T	17	56798103	56798103	G	T	RAD51C	c.838-4G>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56798103G>T	(Likely) benign	1 lab	5cc3db63e3
5:89992908 ADGRV1 T>C	5	89992908	89992908	T	C	ADGRV1	c.8100T>C	NM_032119.4	NP_115495.3:p.(Asn2700=)	NC_000005.9:g.89992908T>C	(Likely) benign	1 lab	08d78a1416
2:179435481 TTN A>T	2	179435481	179435481	A	T	TTN	c.75378T>A	NM_001267550.2	NP_001254479.2:p.(Gly25126=)	NC_000002.11:g.179435481A>T	(Likely) benign	1 lab	5ccdd24097
1:207930546 CD46 T>C	1	207930546	207930546	T	C	CD46	c.285T>C	NM_002389.4	NP_002380.3:p.(Tyr95=)	NC_000001.10:g.207930546T>C	(Likely) benign	1 lab	08d852e51c
21:47410319 COL6A1 G>A	21	47410319	47410319	G	A	COL6A1	c.985G>A	NM_001848.2	NP_001839.2:p.(Gly329Arg)	NC_000021.8:g.47410319G>A	VUS	1 lab	5cd1bb5600
7:44282923 CAMK2B C>T	7	44282923	44282923	C	T	CAMK2B	c.527G>A	NM_001220.4	NP_001211.3:p.(Gly176Asp)	NC_000007.13:g.44282923C>T	VUS	1 lab	5cd5f37008
19:45211346 CEACAM16 A>G	19	45211346	45211346	A	G	CEACAM16	c.1154A>G	NM_001039213.3	NP_001034302.2:p.(Asn385Ser)	NC_000019.9:g.45211346A>G	VUS	1 lab	5cda1ec05c
X:10535000 MISSING G>C	X	10535000	10535000	G	C	MISSING				NC_000023.10:g.10535000G>C	(Likely) benign	1 lab	5cda21ee52
10:89624340 PTEN C>T	10	89624340	89624340	C	T	PTEN	c.79+35C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624340C>T	(Likely) benign	1 lab	5cdb75871b
11:121000716 TECTA G>A	11	121000716	121000716	G	A	TECTA				NC_000011.9:g.121000716G>A	VUS	1 lab	5cdc02285b
1:23384049 KDM1A A>G	1	23384049	23384049	A	G	KDM1A				NC_000001.10:g.23384049A>G	VUS	1 lab	5ce09aa751
7:141313964 AGK C>T	7	141313964	141313964	C	T	AGK	c.409C>T	NM_018238.4	NP_060708.1:p.(Arg137Ter)	NC_000007.13:g.141313964C>T	(Likely) pathogenic	1 lab	5ce0d354a0
16:68849663 CDH1 G>GT	16	68849663	68849664	G	GT	CDH1	c.1565+2dup	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68849664dup	(Likely) pathogenic	1 lab	5ce15c7e47
7:6022502 PMS2 G>A	7	6022502	6022502	G	A	PMS2	c.2127C>T	NM_000535.7	NP_000526.2:p.(Phe709=)	NC_000007.13:g.6022502G>A	(Likely) benign	1 lab	5ce19d29af
12:80818876 MISSING A>G	12	80818876	80818876	A	G	MISSING				NC_000012.11:g.80818876A>G	(Likely) benign	1 lab	5ce70ba43e
11:128761292 KCNJ5 GACACAC>G	11	128761292	128761337	GACACAC	G	KCNJ5	c.-295_-290del	NM_000890.3	NP_000881.3:p.?	NC_000011.9:g.128761332_128761337del	(Likely) benign	1 lab	5ce8368557
3:48612549 COL7A1 C>A	3	48612549	48612549	C	A	COL7A1	c.6227G>T	NM_000094.3	NP_000085.1:p.(Gly2076Val)	NC_000003.11:g.48612549C>A	(Likely) pathogenic	1 lab	5ce90d4b18
14:23897002 MYH7 G>A	14	23897002	23897002	G	A	MYH7	c.1680C>T	NM_000257.2	NP_000248.2:p.(Ser560=)	NC_000014.8:g.23897002G>A	(Likely) benign	1 lab	5ceee3db7e
8:100791259 VPS13B G>C	8	100791259	100791259	G	C	VPS13B	c.7854G>C	NM_017890.4	NP_060360.3:p.(Gln2618His)	NC_000008.10:g.100791259G>C	(Likely) pathogenic	1 lab	08da75feef
4:187195378 F11 A>G	4	187195378	187195378	A	G	F11	c.434A>G	NM_000128.3	NP_000119.1:p.(His145Arg)	NC_000004.11:g.187195378A>G	VUS	1 lab	5cf3327f75
2:216271243 FN1 A>G	2	216271243	216271243	A	G	FN1	c.2714-10T>C	NM_212482.1	NP_997647.1:p.?	NC_000002.11:g.216271243A>G	(Likely) benign	1 lab	5cf3ffe791
5:140077641 HARS2 G>A	5	140077641	140077641	G	A	HARS2	c.1439G>A	NM_012208.3	NP_036340.1:p.(Arg480His)	NC_000005.9:g.140077641G>A	(Likely) pathogenic	1 lab	5cf6625d21
17:8135452 CTC1 A>T	17	8135452	8135452	A	T	CTC1	c.2154T>A	NM_025099.6	NP_079375.3:p.(Asp718Glu)	NC_000017.10:g.8135452A>T	(Likely) benign	1 lab	7ca545f050
15:66996248 SMAD6 C>T	15	66996248	66996248	C	T	SMAD6	c.652C>T	NM_005585.5	NP_005576.3:p.(Gln218Ter)	NC_000015.9:g.66996248C>T	(Likely) pathogenic	1 lab	5cfa314328
X:18598074 CDKL5 A>T	X	18598074	18598074	A	T	CDKL5	c.389A>T	NM_003159.2	NP_003150.1:p.(Asp130Val)	NC_000023.10:g.18598074A>T	(Likely) pathogenic	1 lab	5cfda9002a
2:48692073 PPP1R21 T>C	2	48692073	48692073	T	C	PPP1R21	c.695-3T>C	NM_001135629.3	NP_001129101.1:p.?	NC_000002.11:g.48692073T>C	VUS	1 lab	0fdf4b21c1
12:110230212 TRPV4 C>T	12	110230212	110230212	C	T	TRPV4	c.1847G>A	NM_021625.4	NP_067638.3:p.(Arg616Gln)	NC_000012.11:g.110230212C>T	(Likely) pathogenic	1 lab	5d00a64332
8:63976853 TTPA C>T	8	63976853	63976853	C	T	TTPA				NC_000008.10:g.63976853C>T	(Likely) pathogenic	1 lab	5d030ffc78
3:15563178 COLQ C>T	3	15563178	15563178	C	T	COLQ	c.-46G>A	NM_005677.3	NP_005668.2:p.?	NC_000003.11:g.15563178C>T	(Likely) benign	1 lab	5d05adfb3b
22:29083950 CHEK2 G>A	22	29083950	29083950	G	A	CHEK2	c.1567C>T	NM_007194.4	NP_009125.1:p.(Arg523Cys)	NC_000022.10:g.29083950G>A	(Likely) benign	1 lab	5d08681a56
7:124493092 POT1 C>T	7	124493092	124493092	C	T	POT1	c.803G>A	NM_015450.3	NP_056265.2:p.(Gly268Asp)	NC_000007.13:g.124493092C>T	(Likely) pathogenic	1 lab	5d0bfadf99
11:534279 HRAS C>A	11	534279	534279	C	A	HRAS	c.44G>T	NM_005343.2	NP_005334.1:p.(Gly15Val)	NC_000011.9:g.534279C>A	(Likely) benign	1 lab	5d0dbe4191
2:179596852 TTN A>G	2	179596852	179596852	A	G	TTN	c.16844T>C	NM_001267550.2	NP_001254479.2:p.(Met5615Thr)	NC_000002.11:g.179596852A>G	VUS	1 lab	5d0dd6d6eb
13:32972801 BRCA2 G>A	13	32972801	32972801	G	A	BRCA2	c.10151G>A	NM_000059.3	NP_000050.2:p.(Arg3384Gln)	NC_000013.10:g.32972801G>A	(Likely) benign	1 lab	5d0e2b9f50
20:62038261 KCNQ2 G>T	20	62038261	62038261	G	T	KCNQ2	c.2355C>A	NM_172107.2	NP_742105.1:p.(Asp785Glu)	NC_000020.10:g.62038261G>T	VUS	1 lab	5d116c841c
14:77765810 POMT2 A>C	14	77765810	77765810	A	C	POMT2	c.911T>G	NM_013382.7	NP_037514.2:p.(Val304Gly)	NC_000014.8:g.77765810A>C	VUS	1 lab	5d165989e9
7:81641567 CACNA2D1 T>TG	7	81641567	81641570	T	TG	CACNA2D1	c.1273-9dup	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81641570dup	(Likely) benign	1 lab	5d167fc603
17:41244669 BRCA1 C>T	17	41244669	41244669	C	T	BRCA1	c.2879G>A	NM_007294.3	NP_009225.1:p.(Gly960Asp)	NC_000017.10:g.41244669C>T	(Likely) benign	1 lab	5d1a1a7c8d
2:179590572 TTN G>C	2	179590572	179590572	G	C	TTN	c.16745C>G	NM_133378.4	NP_596869.4:p.(Ser5582Ter)	NC_000002.11:g.179590572G>C	(Likely) pathogenic	1 lab	5d1a39d206
3:37091966 MLH1 G>A	3	37091966	37091966	G	A	MLH1	c.2104-11G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37091966G>A	VUS	1 lab	5d1ae6d042
13:32911013 BRCA2 A>G	13	32911013	32911013	A	G	BRCA2	c.2521A>G	NM_000059.3	NP_000050.2:p.(Arg841Gly)	NC_000013.10:g.32911013A>G	(Likely) benign	1 lab	5d1c5423b0
10:124214355 ARMS2 C>T	10	124214355	124214355	C	T	ARMS2	c.112C>T	NM_001099667.3	NP_001093137.1:p.(Arg38Ter)	NC_000010.10:g.124214355C>T	(Likely) benign	1 lab	5d1d36ea0b
11:6662532 DCHS1 G>A	11	6662532	6662532	G	A	DCHS1	c.313C>T	NM_003737.3	NP_003728.1:p.(Arg105Cys)	NC_000011.9:g.6662532G>A	VUS	1 lab	5d22a0bfa3
2:179437469 TTN G>A	2	179437469	179437469	G	A	TTN	c.73390C>T	NM_001267550.2	NP_001254479.2:p.(Arg24464Trp)	NC_000002.11:g.179437469G>A	VUS	1 lab	5d24049826
2:131356270 CFC1 G>A	2	131356270	131356270	G	A	CFC1	c.192C>T	NM_032545.3	NP_115934.1:p.(Ser64=)	NC_000002.11:g.131356270G>A	(Likely) benign	1 lab	5d2525a35e
9:86590426 HNRNPK T>C	9	86590426	86590426	T	C	HNRNPK	c.214-6A>G	NM_031263.4	NP_112553.1:p.?	NC_000009.11:g.86590426T>C	(Likely) pathogenic	1 lab	5d28b38f32
2:71163220 ATP6V1B1 C>T	2	71163220	71163220	C	T	ATP6V1B1	c.118+18C>T	NM_001692.3	NP_001683.2:p.?	NC_000002.11:g.71163220C>T	(Likely) benign	1 lab	5d2a00886b
13:32930743 BRCA2 A>G	13	32930743	32930743	A	G	BRCA2	c.7614A>G	NM_000059.3	NP_000050.2:p.(Lys2538=)	NC_000013.10:g.32930743A>G	(Likely) benign	1 lab	5d2a58e1c4
16:2155920 PKD1 G>A	16	2155920	2155920	G	A	PKD1	c.7809C>T	NM_001009944.3	NP_001009944.3:p.(Ala2603=)	NC_000016.9:g.2155920G>A	(Likely) benign	1 lab	5d2b99f8a4
8:38282215 FGFR1 G>A	8	38282215	38282215	G	A	FGFR1				NC_000008.10:g.38282215G>A	(Likely) pathogenic	1 lab	5d2bd82a42
13:32890580 BRCA2 G>T	13	32890580	32890580	G	T	BRCA2	c.-18G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890580G>T	(Likely) benign	1 lab	5d31ca42aa
8:90983437 NBN GA>G	8	90983437	90983439	GA	G	NBN	c.665del	NM_002485.4	NP_002476.2:p.(Phe222SerfsTer9)	NC_000008.10:g.90983439del	(Likely) pathogenic	1 lab	5d31f6e4ed
20:13053000 SPTLC3 C>G	20	13053000	13053000	C	G	SPTLC3	c.400C>G	NM_018327.4	NP_060797.2:p.(Pro134Ala)	NC_000020.10:g.13053000C>G	VUS	1 lab	5d350ee0d2
1:196709927 CFH G>A	1	196709927	196709927	G	A	CFH	c.2956+5G>A	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196709927G>A	VUS	1 lab	5d374ef42d
13:78477491 EDNRB G>A	13	78477491	78477491	G	A	EDNRB	c.871C>T	NM_001201397.1	NP_001188326.1:p.(Arg291Ter)	NC_000013.10:g.78477491G>A	(Likely) pathogenic	1 lab	5d394a434e
X:107929337 COL4A5 C>T	X	107929337	107929337	C	T	COL4A5	c.4293C>T	NM_033380.3	NP_203699.1:p.(Asp1431=)	NC_000023.10:g.107929337C>T	(Likely) benign	1 lab	5d3ca43b15
17:41197742 BRCA1 C>A	17	41197742	41197742	C	A	BRCA1	c.5545G>T	NM_007294.3	NP_009225.1:p.(Glu1849Ter)	NC_000017.10:g.41197742C>A	(Likely) pathogenic	1 lab	5d44c61976
11:47397226 SPI1 C>A	11	47397226	47397226	C	A	SPI1	c.100G>T	NM_003120.3	NP_003111.2:p.(Glu34Ter)	NC_000011.9:g.47397226C>A	(Likely) pathogenic	1 lab	5d4839e708
2:179408791 TTN C>T	2	179408791	179408791	C	T	TTN	c.69260G>A	NM_133432.3	NP_597676.3:p.(Arg23087Lys)	NC_000002.11:g.179408791C>T	VUS	1 lab	08e52e6155
9:77454951 TRPM6 C>A	9	77454951	77454951	C	A	TRPM6	c.533G>T	NM_017662.4	NP_060132.3:p.(Gly178Val)	NC_000009.11:g.77454951C>A	VUS	1 lab	5d4a17d8a7
9:98211421 PTCH1 T>C	9	98211421	98211421	T	C	PTCH1	c.3734A>G	NM_000264.3	NP_000255.2:p.(Gln1245Arg)	NC_000009.11:g.98211421T>C	VUS	1 lab	5d4a6c165b
19:38956971 RYR1 C>T	19	38956971	38956971	C	T	RYR1	c.3111C>T	NM_000540.2	NP_000531.2:p.(Ser1037=)	NC_000019.9:g.38956971C>T	(Likely) benign	1 lab	5d4f844251
8:61750358 CHD7 A>G	8	61750358	61750358	A	G	CHD7	c.4317A>G	NM_017780.3	NP_060250.2:p.(Leu1439=)	NC_000008.10:g.61750358A>G	(Likely) benign	1 lab	5d5021623a
2:167318939 SCN7A C>T	2	167318939	167318939	C	T	SCN7A	c.1043G>A	NM_002976.4	NP_002967.2:p.(Arg348Gln)	NC_000002.11:g.167318939C>T	VUS	1 lab	5d5044e4bf
19:18979953 GDF1 C>G	19	18979953	18979953	C	G	GDF1	c.572G>C	NM_001492.5	NP_001483.3:p.(Gly191Ala)	NC_000019.9:g.18979953C>G	(Likely) benign	1 lab	5d52141ffa
X:9711608 GPR143 AT>A	X	9711608	9711609	AT	A	GPR143	c.763del	NM_000273.2	NP_000264.2:p.(Ile255PhefsTer27)	NC_000023.10:g.9711609del	(Likely) pathogenic	1 lab	5d52768d08
1:160090720 ATP1A2 G>A	1	160090720	160090720	G	A	ATP1A2	c.37G>A	NM_000702.3	NP_000693.1:p.(Ala13Thr)	NC_000001.10:g.160090720G>A	(Likely) benign	1 lab	5d536a3ff1
3:101023121 IMPG2 A>G	3	101023121	101023121	A	G	IMPG2	c.370T>C	NM_016247.3	NP_057331.2:p.(Phe124Leu)	NC_000003.11:g.101023121A>G	VUS	1 lab	5d5499680e
19:39013868 RYR1 C>T	19	39013868	39013868	C	T	RYR1	c.10359C>T	NM_000540.2	NP_000531.2:p.(Arg3453=)	NC_000019.9:g.39013868C>T	VUS	1 lab	5d57358c43
11:118355691 KMT2A G>A	11	118355691	118355691	G	A	KMT2A	c.4332+1G>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118355691G>A	(Likely) pathogenic	1 lab	5d586310ce
17:41256976 BRCA1 G>C	17	41256976	41256976	G	C	BRCA1	c.213-3C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256976G>C	(Likely) pathogenic	1 lab	5d595b8028
2:241727612 KIF1A C>T	2	241727612	241727612	C	T	KIF1A	c.219G>A	NM_001244008.1	NP_001230937.1:p.(Val73=)	NC_000002.11:g.241727612C>T	VUS	1 lab	5d5a140673
6:27792018 H4C11 C>G	6	27792018	27792018	C	G	H4C11	c.116C>G	NM_021968.4	NP_068803.1:p.(Ala39Gly)	NC_000006.11:g.27792018C>G	VUS	1 lab	5d5a74dd75
15:43908311 STRC A>C	15	43908311	43908311	A	C	STRC	c.1453T>G	NM_153700.2	NP_714544.1:p.(Cys485Gly)	NC_000015.9:g.43908311A>C	VUS	1 lab	5d5a8c9715
X:107814643 COL4A5 G>A	X	107814643	107814643	G	A	COL4A5	c.385G>A	NM_033380.3	NP_203699.1:p.(Gly129Arg)	NC_000023.10:g.107814643G>A	(Likely) pathogenic	1 lab	5d5d7e2d3d
9:132586416 TOR1A A>C	9	132586416	132586416	A	C	TOR1A				NC_000009.11:g.132586416A>C	(Likely) benign	1 lab	5ec4eb1fea
1:152278612 FLG C>A	1	152278612	152278612	C	A	FLG	c.8750G>T	NM_002016.1	NP_002007.1:p.(Gly2917Val)	NC_000001.10:g.152278612C>A	(Likely) benign	1 lab	5d5e90738f
5:112174929 APC C>G	5	112174929	112174929	C	G	APC	c.3638C>G	NM_000038.6	NP_000029.2:p.(Ser1213Ter)	NC_000005.9:g.112174929C>G	(Likely) pathogenic	1 lab	5d5eec3d16
6:31929115 SKIC2 C>G	6	31929115	31929115	C	G	SKIC2	c.741C>G	NM_006929.5	NP_008860.4:p.(Cys247Trp)	NC_000006.11:g.31929115C>G	(Likely) benign	1 lab	38080e6e98
8:145642002 SLC39A4 C>T	8	145642002	145642002	C	T	SLC39A4	c.172G>A	NM_130849.3	NP_570901.2:p.(Ala58Thr)	NC_000008.10:g.145642002C>T	(Likely) benign	1 lab	5d6143ec12
3:38913713 SCN11A G>A	3	38913713	38913713	G	A	SCN11A	c.3466C>T	NM_001349253.2	NP_001336182.1:p.(Arg1156Cys)	NC_000003.11:g.38913713G>A	VUS	1 lab	5d96aee831
2:166868738 SCN1A A>AT	2	166868738	166868740	A	AT	SCN1A	c.3759dup	NM_001165963.1	NP_001159435.1:p.(Tyr1254IlefsTer3)	NC_000002.11:g.166868740dup	(Likely) pathogenic	1 lab	5d61b55261
7:158536376 ESYT2 A>C	7	158536376	158536376	A	C	ESYT2	c.1726-7T>G	NM_020728.2	NP_065779.1:p.?	NC_000007.13:g.158536376A>C	(Likely) benign	1 lab	5d62f0c097
7:91713001 AKAP9 C>T	7	91713001	91713001	C	T	AKAP9	c.8646+32C>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91713001C>T	(Likely) benign	1 lab	5d65aa2d00
17:29585410 NF1 GC>G	17	29585410	29585412	GC	G	NF1	c.4224del	NM_001042492.3	NP_001035957.1:p.(Met1409CysfsTer19)	NC_000017.10:g.29585412del	(Likely) pathogenic	1 lab	5d672056d3
2:179472647 TTN T>C	2	179472647	179472647	T	C	TTN	c.52867A>G	NM_001267550.2	NP_001254479.2:p.(Met17623Val)	NC_000002.11:g.179472647T>C	(Likely) benign	1 lab	5d6aa5abfc
2:48027704 MSH6 C>G	2	48027704	48027704	C	G	MSH6	c.2582C>G	NM_000179.2	NP_000170.1:p.(Ala861Gly)	NC_000002.11:g.48027704C>G	VUS	1 lab	5d72de7694
X:53228015 KDM5C C>A	X	53228015	53228015	C	A	KDM5C	c.2299G>T	NM_004187.5	NP_004178.2:p.(Ala767Ser)	NC_000023.10:g.53228015C>A	VUS	1 lab	5d7745859c
2:216288984 FN1 A>G	2	216288984	216288984	A	G	FN1	c.1101T>C	NM_212482.1	NP_997647.1:p.(Asn367=)	NC_000002.11:g.216288984A>G	(Likely) benign	1 lab	5d795e7b28
6:39856551 DAAM2 C>T	6	39856551	39856551	C	T	DAAM2	c.2145+12C>T	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39856551C>T	(Likely) benign	1 lab	08e698b22b
2:86316961 POLR1A C>T	2	86316961	86316961	C	T	POLR1A	c.524G>A	NM_015425.6	NP_056240.2:p.(Gly175Glu)	NC_000002.11:g.86316961C>T	VUS	1 lab	5d7b60bde1
18:33848580 MOCOS G>A	18	33848580	33848580	G	A	MOCOS	c.2599G>A	NM_017947.4	NP_060417.4:p.(Val867Met)	NC_000018.9:g.33848580G>A	(Likely) benign	1 lab	08ea0e2458
2:179614284 TTN A>C	2	179614284	179614284	A	C	TTN	c.11311+3567T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179614284A>C	(Likely) benign	1 lab	5d7f688969
6:49415412 MMUT G>A	6	49415412	49415412	G	A	MMUT	c.1531C>T	NM_000255.3	NP_000246.2:p.(Arg511Ter)	NC_000006.11:g.49415412G>A	(Likely) pathogenic	1 lab	5d801b23dd
16:68842752 CDH1 G>C	16	68842752	68842752	G	C	CDH1	c.687+1G>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842752G>C	(Likely) pathogenic	1 lab	5d8683178d
16:71784193 AP1G1 G>A	16	71784193	71784193	G	A	AP1G1	c.1336C>T	NM_001030007.2	NP_001025178.1:p.(Gln446Ter)	NC_000016.9:g.71784193G>A	(Likely) pathogenic	1 lab	5d868c99e0
X:49846473 CLCN5 A>C	X	49846473	49846473	A	C	CLCN5	c.692A>C	NM_000084.5	NP_000075.1:p.(Lys231Thr)	NC_000023.10:g.49846473A>C	VUS	1 lab	5d87c67665
15:65370375 KBTBD13 C>T	15	65370375	65370375	C	T	KBTBD13	c.1222C>T	NM_001101362.2	NP_001094832.1:p.(Arg408Cys)	NC_000015.9:g.65370375C>T	(Likely) pathogenic	1 lab	5d88855b27
4:77660717 SHROOM3 C>T	4	77660717	77660717	C	T	SHROOM3	c.1391C>T	NM_020859.3	NP_065910.3:p.(Pro464Leu)	NC_000004.11:g.77660717C>T	(Likely) benign	1 lab	5d8aa6b3d7
9:6610326 GLDC C>T	9	6610326	6610326	C	T	GLDC	c.501G>A	NM_000170.2	NP_000161.2:p.(Glu167=)	NC_000009.11:g.6610326C>T	(Likely) benign	1 lab	08ebb8ab1f
6:107955694 SOBP C>A	6	107955694	107955694	C	A	SOBP	c.1646C>A	NM_018013.3	NP_060483.3:p.(Ser549Tyr)	NC_000006.11:g.107955694C>A	(Likely) pathogenic	1 lab	5d94052687
15:68521840 CLN6 C>T	15	68521840	68521840	C	T	CLN6	c.83G>A	NM_017882.2	NP_060352.1:p.(Arg28Lys)	NC_000015.9:g.68521840C>T	(Likely) pathogenic	1 lab	5d96a2a9a0
17:36962572 CWC25 G>A	17	36962572	36962572	G	A	CWC25	c.979C>T	NM_017748.5	NP_060218.1:p.(Arg327Ter)	NC_000017.10:g.36962572G>A	VUS	1 lab	08ed18d05f
22:38129332 TRIOBP G>A	22	38129332	38129332	G	A	TRIOBP	c.3975G>A	NM_001039141.2	NP_001034230.1:p.(Gln1325=)	NC_000022.10:g.38129332G>A	(Likely) benign	1 lab	5d9a17486d
2:179445181 TTN C>A	2	179445181	179445181	C	A	TTN	c.66925G>T	NM_001267550.2	NP_001254479.2:p.(Asp22309Tyr)	NC_000002.11:g.179445181C>A	VUS	1 lab	5d9efb8f5d
12:9027598 A2ML1 C>T	12	9027598	9027598	C	T	A2ML1	c.4356C>T	NM_144670.4	NP_653271.2:p.(Pro1452=)	NC_000012.11:g.9027598C>T	(Likely) benign	1 lab	5da110a1a4
13:32890645 BRCA2 GAC>G	13	32890645	32890649	GAC	G	BRCA2	c.51_52del	NM_000059.3	NP_000050.2:p.(Arg18LeufsTer12)	NC_000013.10:g.32890648_32890649del	(Likely) pathogenic	1 lab	5da145e448
17:59001780 BCAS3 G>T	17	59001780	59001780	G	T	BCAS3	c.1006G>T	NM_001099432.1	NP_001092902.1:p.(Glu336Ter)	NC_000017.10:g.59001780G>T	VUS	1 lab	5da1cfadf0
11:108098417 ATM A>G	11	108098417	108098417	A	G	ATM	c.66A>G	NM_000051.3	NP_000042.3:p.(Glu22=)	NC_000011.9:g.108098417A>G	(Likely) benign	1 lab	5da229f505
12:106848438 POLR3B G>T	12	106848438	106848438	G	T	POLR3B	c.2242G>T	NM_018082.5	NP_060552.4:p.(Gly748Cys)	NC_000012.11:g.106848438G>T	VUS	1 lab	5da301435a
15:78893831 CHRNA3 G>A	15	78893831	78893831	G	A	CHRNA3	c.1153C>T	NM_000743.4	NP_000734.2:p.(Arg385Cys)	NC_000015.9:g.78893831G>A	VUS	1 lab	5da585c937
1:152283914 FLG G>A	1	152283914	152283914	G	A	FLG	c.3448C>T	NM_002016.1	NP_002007.1:p.(Arg1150Ter)	NC_000001.10:g.152283914G>A	(Likely) pathogenic	1 lab	5da67e716c
10:112654269 PDCD4 C>G	10	112654269	112654269	C	G	PDCD4	c.1198C>G	NM_014456.4	NP_055271.2:p.(Gln400Glu)	NC_000010.10:g.112654269C>G	VUS	1 lab	5da876bfba
2:179635227 TTN C>T	2	179635227	179635227	C	T	TTN	c.8292G>A	NM_001267550.2	NP_001254479.2:p.(Leu2764=)	NC_000002.11:g.179635227C>T	(Likely) benign	1 lab	5dac6de5e0
1:216064816 USH2A G>A	1	216064816	216064816	G	A	USH2A	c.7595-2420C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216064816G>A	(Likely) benign	1 lab	5dac71639e
2:71797362 DYSF G>A	2	71797362	71797362	G	A	DYSF	c.2980G>A	NM_001130981.2	NP_001124453.1:p.(Gly994Arg)	NC_000002.11:g.71797362G>A	VUS	1 lab	08f09694c5
2:47630314 MSH2 G>C	2	47630314	47630314	G	C	MSH2	c.-17G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47630314G>C	(Likely) benign	1 lab	5daf90957f
14:24725214 TGM1 G>A	14	24725214	24725214	G	A	TGM1	c.1472C>T	NM_000359.2	NP_000350.1:p.(Thr491Met)	NC_000014.8:g.24725214G>A	(Likely) pathogenic	1 lab	5db0a7fcf2
7:148526840 EZH2 C>T	7	148526840	148526840	C	T	EZH2				NC_000007.13:g.148526840C>T	VUS	1 lab	5db1f29df4
18:34261444 FHOD3 A>G	18	34261444	34261444	A	G	FHOD3	c.1356A>G	NM_025135.4	NP_079411.2:p.(Gln452=)	NC_000018.9:g.34261444A>G	(Likely) benign	1 lab	5db58558ab
19:11238684 LDLR C>T	19	11238684	11238684	C	T	LDLR	c.2312C>T	NM_000527.5	NP_000518.1:p.(Ala771Val)	NC_000019.9:g.11238684C>T	VUS	1 lab	12aec61106
22:18906979 PRODH G>C	22	18906979	18906979	G	C	PRODH	c.1236C>G	NM_016335.4	NP_057419.4:p.(Tyr412Ter)	NC_000022.10:g.18906979G>C	VUS	1 lab	5db8c1e963
19:48337708 CRX C>T	19	48337708	48337708	C	T	CRX	c.8C>T	NM_000554.4	NP_000545.1:p.(Ala3Val)	NC_000019.9:g.48337708C>T	VUS	1 lab	5db8c3b74c
3:9984989 CRELD1 TGA>T	3	9984989	9984995	TGA	T	CRELD1	c.914-71_914-70del	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9984994_9984995del	(Likely) benign	1 lab	5dbd69cd0c
6:32029180 TNXB C>T	6	32029180	32029180	C	T	TNXB	c.7486G>A	NM_019105.8	NP_061978.6:p.(Val2496Met)	NC_000006.11:g.32029180C>T	(Likely) benign	1 lab	08f5f5e6e5
21:46924423 COL18A1 C>G	21	46924423	46924423	C	G	COL18A1	c.2821C>G	NM_001379500.1	NP_001366429.1:p.(Pro941Ala)	NC_000021.8:g.46924423C>G	(Likely) benign	1 lab	5dc00483f9
12:57898030 MARS1 G>A	12	57898030	57898030	G	A	MARS1	c.1316G>A	NM_004990.4	NP_004981.2:p.(Arg439Gln)	NC_000012.11:g.57898030G>A	VUS	1 lab	5dc064a292
X:100613418 BTK G>A	X	100613418	100613418	G	A	BTK	c.982C>T	NM_000061.2	NP_000052.1:p.(Gln328Ter)	NC_000023.10:g.100613418G>A	(Likely) pathogenic	1 lab	08f629fae0
7:155599122 SHH G>C	7	155599122	155599122	G	C	SHH	c.430C>G	NM_000193.4	NP_000184.1:p.(Arg144Gly)	NC_000007.13:g.155599122G>C	(Likely) pathogenic	1 lab	5dc2ed75f1
1:228474032 OBSCN G>A	1	228474032	228474032	G	A	OBSCN	c.10545G>A	NM_001271223.2	NP_001258152.2:p.(Ser3515=)	NC_000001.10:g.228474032G>A	(Likely) benign	1 lab	5dc6277e63
13:32929139 BRCA2 T>C	13	32929139	32929139	T	C	BRCA2	c.7149T>C	NM_000059.3	NP_000050.2:p.(Tyr2383=)	NC_000013.10:g.32929139T>C	(Likely) benign	1 lab	5dca9d71f6
8:41839398 KAT6A A>C	8	41839398	41839398	A	C	KAT6A	c.784T>G	NM_006766.4	NP_006757.2:p.(Cys262Gly)	NC_000008.10:g.41839398A>C	VUS	1 lab	5dd0f74a35
13:25480145 CENPJ G>A	13	25480145	25480145	G	A	CENPJ				NC_000013.10:g.25480145G>A	(Likely) benign	1 lab	5dd3c7cb54
17:56294089 MKS1 G>A	17	56294089	56294089	G	A	MKS1				NC_000017.10:g.56294089G>A	VUS	1 lab	5dd69bf7b9
3:48611738 COL7A1 C>T	3	48611738	48611738	C	T	COL7A1	c.6458G>A	NM_000094.3	NP_000085.1:p.(Gly2153Asp)	NC_000003.11:g.48611738C>T	(Likely) pathogenic	1 lab	5dd96a2cd3
3:38755486 SCN10A C>T	3	38755486	38755486	C	T	SCN10A	c.3767G>A	NM_006514.3	NP_006505.3:p.(Arg1256Gln)	NC_000003.11:g.38755486C>T	VUS	1 lab	5ddac2a03e
8:61735211 CHD7 G>A	8	61735211	61735211	G	A	CHD7	c.3107G>A	NM_017780.4	NP_060250.2:p.(Arg1036Gln)	NC_000008.10:g.61735211G>A	VUS	1 lab	5ddc9c748b
14:93676305 UBR7 T>C	14	93676305	93676305	T	C	UBR7	c.284+2T>C	NM_175748.3	NP_786924.2:p.?	NC_000014.8:g.93676305T>C	VUS	1 lab	5e57742108
2:16086106 MYCN G>T	2	16086106	16086106	G	T	MYCN	c.1282G>T	NM_005378.4	NP_005369.2:p.(Glu428Ter)	NC_000002.11:g.16086106G>T	(Likely) pathogenic	1 lab	5ddd25f11e
20:62324391 RTEL1 G>A	20	62324391	62324391	G	A	RTEL1	c.2923+35G>A	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62324391G>A	(Likely) benign	1 lab	5ddde44f2b
X:76938406 ATRX C>T	X	76938406	76938406	C	T	ATRX	c.2342G>A	NM_000489.6	NP_000480.3:p.(Arg781Gln)	NC_000023.10:g.76938406C>T	VUS	1 lab	5ddfe9ad05
8:61654155 CHD7 A>G	8	61654155	61654155	A	G	CHD7				NC_000008.10:g.61654155A>G	(Likely) pathogenic	1 lab	5de2737317
2:179553440 TTN C>T	2	179553440	179553440	C	T	TTN	c.32161G>A	NM_001267550.2	NP_001254479.2:p.(Ala10721Thr)	NC_000002.11:g.179553440C>T	(Likely) benign	1 lab	5de48c60d3
1:169487742 F5 A>G	1	169487742	169487742	A	G	F5	c.6253T>C	NM_000130.5	NP_000121.2:p.(Ser2085Pro)	NC_000001.10:g.169487742A>G	VUS	1 lab	5de7d612ff
14:102469001 DYNC1H1 T>C	14	102469001	102469001	T	C	DYNC1H1	c.4670T>C	NM_001376.4	NP_001367.2:p.(Ile1557Thr)	NC_000014.8:g.102469001T>C	(Likely) pathogenic	1 lab	5ded393353
17:7578458 TP53 GGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACA>G	17	7578458	7578497	GGACGCGGGTGCCGGGCGGGGGTGTGGAATCAACCCACA	G	TP53	c.434_471del	NM_000546.5	NP_000537.3:p.(Leu145ProfsTer23)	NC_000017.10:g.7578460_7578497del	(Likely) pathogenic	1 lab	5dede6c8a4
2:131355053 CFC1 A>T	2	131355053	131355053	A	T	CFC1	c.472+14T>A	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131355053A>T	(Likely) benign	1 lab	5def6204c8
12:50344753 AQP2 C>T	12	50344753	50344753	C	T	AQP2	c.140C>T	NM_000486.5	NP_000477.1:p.(Ala47Val)	NC_000012.11:g.50344753C>T	(Likely) pathogenic	1 lab	5df559cd47
18:11752943 GNAL C>A	18	11752943	11752943	C	A	GNAL				NC_000018.9:g.11752943C>A	(Likely) benign	1 lab	5df5b84ba7
16:15835620 MYH11 C>T	16	15835620	15835620	C	T	MYH11	c.2670G>A	NM_001040114.1	NP_001035203.1:p.(Ser890=)	NC_000016.9:g.15835620C>T	(Likely) benign	1 lab	5df65137ea
5:36961657 NIPBL C>T	5	36961657	36961657	C	T	NIPBL	c.430C>T	NM_133433.3	NP_597677.2:p.(Gln144Ter)	NC_000005.9:g.36961657C>T	(Likely) pathogenic	1 lab	5dfd2ee1f5
14:89656744 FOXN3 AG>A	14	89656744	89656749	AG	A	FOXN3	c.746-9595del	NM_005197.4	NP_005188.2:p.?	NC_000014.8:g.89656749del	VUS	1 lab	5dfd6728e4
1:228461925 OBSCN G>A	1	228461925	228461925	G	A	OBSCN	c.6588G>A	NM_001271223.2	NP_001258152.2:p.(Glu2196=)	NC_000001.10:g.228461925G>A	(Likely) benign	1 lab	5e0107936b
5:37170237 CPLANE1 G>T	5	37170237	37170237	G	T	CPLANE1	c.6368C>A	NM_023073.3	NP_075561.3:p.(Ser2123Ter)	NC_000005.9:g.37170237G>T	(Likely) pathogenic	1 lab	08fc6b0dc3
12:88477732 CEP290 C>A	12	88477732	88477732	C	A	CEP290	c.4705-1G>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88477732C>A	(Likely) pathogenic	1 lab	5e020d7a33
13:113803343 F10 C>T	13	113803343	113803343	C	T	F10	c.979C>T	NM_000504.3	NP_000495.1:p.(Arg327Trp)	NC_000013.10:g.113803343C>T	(Likely) pathogenic	1 lab	5e05b1d687
10:89711873 PTEN A>G	10	89711873	89711873	A	G	PTEN	c.493-2A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89711873A>G	(Likely) pathogenic	1 lab	5e087bd9ce
11:108173577 ATM T>C	11	108173577	108173577	T	C	ATM	c.5320-3T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108173577T>C	(Likely) benign	1 lab	5e0aa569b4
22:29130584 CHEK2 A>T	22	29130584	29130584	A	T	CHEK2	c.126T>A	NM_007194.3	NP_009125.1:p.(Ser42=)	NC_000022.10:g.29130584A>T	(Likely) benign	1 lab	5e0d574a6c
6:51923224 PKHD1 C>T	6	51923224	51923224	C	T	PKHD1	c.1409G>A	NM_138694.4	NP_619639.3:p.(Gly470Asp)	NC_000006.11:g.51923224C>T	(Likely) pathogenic	1 lab	5e0e11eda8
13:110847378 COL4A1 C>A	13	110847378	110847378	C	A	COL4A1	c.1373G>T	NM_001845.6	NP_001836.3:p.(Gly458Val)	NC_000013.10:g.110847378C>A	VUS	1 lab	5e103b4c49
22:29099498 CHEK2 CA>C	22	29099498	29099502	CA	C	CHEK2	c.902del	NM_007194.3	NP_009125.1:p.(Leu301TrpfsTer3)	NC_000022.10:g.29099502del	(Likely) pathogenic	1 lab	5e1491d5a6
1:45444021 EIF2B3 G>A	1	45444021	45444021	G	A	EIF2B3	c.260C>T	NM_020365.5	NP_065098.1:p.(Ala87Val)	NC_000001.10:g.45444021G>A	(Likely) pathogenic	1 lab	5e18fdf863
2:179433611 TTN G>A	2	179433611	179433611	G	A	TTN	c.77248C>T	NM_001267550.2	NP_001254479.2:p.(Arg25750Ter)	NC_000002.11:g.179433611G>A	(Likely) pathogenic	1 lab	5e1a6525d8
10:73498385 CDH23 A>T	10	73498385	73498385	A	T	CDH23	c.4340A>T	NM_022124.6	NP_071407.4:p.(Asp1447Val)	NC_000010.10:g.73498385A>T	VUS	1 lab	5e1edbec80
2:48032840 MSH6 G>T	2	48032840	48032840	G	T	MSH6	c.3640G>T	NM_000179.2	NP_000170.1:p.(Glu1214Ter)	NC_000002.11:g.48032840G>T	(Likely) pathogenic	1 lab	5e1f3d022c
2:179594916 TTN G>T	2	179594916	179594916	G	T	TTN	c.18211C>A	NM_001267550.2	NP_001254479.2:p.(Leu6071Ile)	NC_000002.11:g.179594916G>T	VUS	1 lab	5e20ad0836
9:98215815 PTCH1 A>G	9	98215815	98215815	A	G	PTCH1	c.3394T>C	NM_000264.3	NP_000255.2:p.(Ser1132Pro)	NC_000009.11:g.98215815A>G	(Likely) pathogenic	1 lab	5e232cbae5
11:118370015 KMT2A A>T	11	118370015	118370015	A	T	KMT2A	c.5962-3A>T	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118370015A>T	(Likely) benign	1 lab	5e24d81bd9
11:108123575 ATM C>T	11	108123575	108123575	C	T	ATM	c.1834C>T	NM_000051.3	NP_000042.3:p.(Leu612Phe)	NC_000011.9:g.108123575C>T	VUS	1 lab	5e26b7a479
3:38793754 SCN10A G>T	3	38793754	38793754	G	T	SCN10A	c.1711C>A	NM_006514.4	NP_006505.4:p.(Pro571Thr)	NC_000003.11:g.38793754G>T	(Likely) benign	1 lab	5e28471241
2:179444561 TTN C>T	2	179444561	179444561	C	T	TTN	c.67363G>A	NM_001267550.2	NP_001254479.2:p.(Val22455Ile)	NC_000002.11:g.179444561C>T	VUS	1 lab	5e2d5e48c9
22:36653378 APOL1 G>A	22	36653378	36653378	G	A	APOL1	c.112G>A	NM_003661.4	NP_003652.2:p.(Val38Ile)	NC_000022.10:g.36653378G>A	(Likely) benign	1 lab	08fd293edd
8:143957715 CYP11B1 A>G	8	143957715	143957715	A	G	CYP11B1	c.896T>C	NM_000497.3	NP_000488.3:p.(Leu299Pro)	NC_000008.10:g.143957715A>G	(Likely) pathogenic	1 lab	5e31c61996
2:47705421 MSH2 A>AT	2	47705421	47705422	A	AT	MSH2	c.2221_2222insT	NM_000251.2	NP_000242.1:p.(Lys741IlefsTer9)	NC_000002.11:g.47705421_47705422insT	(Likely) pathogenic	1 lab	5e31f3c79f
22:21348255 LZTR1 C>T	22	21348255	21348255	C	T	LZTR1	c.1396C>T	NM_006767.4	NP_006758.2:p.(Arg466Trp)	NC_000022.10:g.21348255C>T	(Likely) pathogenic	1 lab	5e33681907
2:191862971 STAT1 A>G	2	191862971	191862971	A	G	STAT1	c.605T>C	NM_007315.3	NP_009330.1:p.(Met202Thr)	NC_000002.11:g.191862971A>G	(Likely) pathogenic	1 lab	5e353e7792
2:47687624 MSH2 T>C	2	47687624	47687624	T	C	MSH2	c.1387-2546T>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47687624T>C	(Likely) benign	1 lab	5e3544861b
8:11566237 GATA4 C>CG	8	11566237	11566240	C	CG	GATA4	c.419dup	NM_001308093.1	NP_001295022.1:p.(Ala141CysfsTer70)	NC_000008.10:g.11566240dup	(Likely) pathogenic	1 lab	5e35be341c
4:657671 PDE6B C>A	4	657671	657671	C	A	PDE6B	c.2021+12C>A	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.657671C>A	(Likely) benign	1 lab	5e399eab48
19:55452999 NLRP7 G>C	19	55452999	55452999	G	C	NLRP7	c.81C>G	NM_001127255.1	NP_001120727.1:p.(Ser27=)	NC_000019.9:g.55452999G>C	(Likely) benign	1 lab	08fe32de23
6:129764217 LAMA2 C>T	6	129764217	129764217	C	T	LAMA2	c.6274+4C>T	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129764217C>T	(Likely) benign	1 lab	5e3db01af3
3:49084494 QRICH1 ACACT>A	3	49084494	49084503	ACACT	A	QRICH1	c.1516+4_1516+7del	NM_198880.3	NP_942581.1:p.?	NC_000003.11:g.49084500_49084503del	VUS	1 lab	5e3ffea867
8:134260145 NDRG1 C>CACAGGTGCA	8	134260145	134260146	C	CACAGGTGCA	NDRG1	c.779_780insTGCACCTGT	NM_006096.3	NP_006087.2:p.(Gly260_Asp261insAlaProVal)	NC_000008.10:g.134260145_134260146insACAGGTGCA	VUS	1 lab	5e400d0f25
3:93605147 PROS1 T>C	3	93605147	93605147	T	C	PROS1	c.1323+33A>G	NM_000313.4	NP_000304.2:p.?	NC_000003.11:g.93605147T>C	VUS	1 lab	5e40231899
8:144894464 SCRIB TCA>T	8	144894464	144894466	TCA	T	SCRIB	c.876_877del	NM_182706.5	NP_874365.3:p.(Glu293AlafsTer20)	NC_000008.10:g.144894465_144894466del	VUS	1 lab	5e403913c6
X:85133998 CHM C>T	X	85133998	85133998	C	T	CHM	c.1581G>A	NM_000390.4	NP_000381.1:p.(Leu527=)	NC_000023.10:g.85133998C>T	(Likely) benign	1 lab	5e444dc39d
1:169483564 F5 C>T	1	169483564	169483564	C	T	F5	c.6662G>A	NM_000130.4	NP_000121.2:p.(Cys2221Tyr)	NC_000001.10:g.169483564C>T	VUS	1 lab	5e44e21efe
22:29091115 CHEK2 C>A	22	29091115	29091115	C	A	CHEK2	c.1375G>T	NM_007194.4	NP_009125.1:p.(Ala459Ser)	NC_000022.10:g.29091115C>A	VUS	1 lab	5e4b5731a4
19:50752296 MYH14 G>T	19	50752296	50752296	G	T	MYH14	c.1382G>T	NM_001145809.1	NP_001139281.1:p.(Arg461Leu)	NC_000019.9:g.50752296G>T	(Likely) benign	1 lab	5e4da4c178
18:28913648 DSG1 G>A	18	28913648	28913648	G	A	DSG1	c.781G>A	NM_001942.4	NP_001933.2:p.(Asp261Asn)	NC_000018.9:g.28913648G>A	(Likely) pathogenic	1 lab	5e4e60f6d1
2:48033489 MSH6 G>T	2	48033489	48033489	G	T	MSH6	c.3793G>T	NM_000179.2	NP_000170.1:p.(Gly1265Ter)	NC_000002.11:g.48033489G>T	(Likely) pathogenic	1 lab	5e5286d260
2:31572984 XDH G>A	2	31572984	31572984	G	A	XDH	c.2737C>T	NM_000379.4	NP_000370.2:p.(Arg913Trp)	NC_000002.11:g.31572984G>A	(Likely) pathogenic	1 lab	0904d1aaa9
6:112453996 LAMA4 T>C	6	112453996	112453996	T	C	LAMA4	c.3793A>G	NM_001105206.2	NP_001098676.2:p.(Thr1265Ala)	NC_000006.11:g.112453996T>C	VUS	1 lab	5e5633fbfd
1:152277343 FLG GC>G	1	152277343	152277345	GC	G	FLG	c.10018del	NM_002016.2	NP_002007.1:p.(Ala3340ProfsTer51)	NC_000001.10:g.152277345del	(Likely) pathogenic	1 lab	5e56f27c78
14:21793477 RPGRIP1 C>T	14	21793477	21793477	C	T	RPGRIP1	c.2302C>T	NM_020366.3	NP_065099.3:p.(Arg768Ter)	NC_000014.8:g.21793477C>T	(Likely) pathogenic	1 lab	5e6183f162
17:18046140 MYO15A C>T	17	18046140	18046140	C	T	MYO15A				NC_000017.10:g.18046140C>T	(Likely) pathogenic	1 lab	5e61bd6a37
4:155507382 FGA G>A	4	155507382	155507382	G	A	FGA	c.1199C>T	NM_000508.3	NP_000499.1:p.(Ser400Phe)	NC_000004.11:g.155507382G>A	(Likely) benign	1 lab	0908433075
2:167284431 SCN7A A>G	2	167284431	167284431	A	G	SCN7A	c.2720T>C	NM_002976.3	NP_002967.2:p.(Leu907Pro)	NC_000002.11:g.167284431A>G	(Likely) benign	1 lab	5e6f37e6d2
10:55626598 PCDH15 C>T	10	55626598	55626598	C	T	PCDH15	c.3521G>A	NM_033056.3	NP_149045.3:p.(Gly1174Asp)	NC_000010.10:g.55626598C>T	VUS	1 lab	5e7244ea8f
18:19371338 MIB1 G>A	18	19371338	19371338	G	A	MIB1	c.912G>A	NM_020774.3	NP_065825.1:p.(Trp304Ter)	NC_000018.9:g.19371338G>A	(Likely) pathogenic	1 lab	5e7581fef4
7:154677462 MISSING G>A	7	154677462	154677462	G	A	MISSING				NC_000007.13:g.154677462G>A	(Likely) benign	1 lab	5f8b819900
1:94033042 BCAR3 G>A	1	94033042	94033042	G	A	BCAR3	c.2093C>T	NM_001261408.2	NP_001248337.1:p.(Thr698Ile)	NC_000001.10:g.94033042G>A	(Likely) benign	1 lab	09088083aa
19:36214116 KMT2B G>A	19	36214116	36214116	G	A	KMT2B	c.2942G>A	NM_014727.3	NP_055542.1:p.(Cys981Tyr)	NC_000019.9:g.36214116G>A	VUS	1 lab	5e79dacbb3
2:228012214 COL4A4 A>G	2	228012214	228012214	A	G	COL4A4	c.-15T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228012214A>G	(Likely) benign	1 lab	5e7d096285
3:10443844 ATP2B2 G>A	3	10443844	10443844	G	A	ATP2B2	c.586C>T	NM_001001331.3	NP_001001331.1:p.(Arg196Trp)	NC_000003.11:g.10443844G>A	(Likely) pathogenic	1 lab	5e8004684f
2:223163275 PAX3 G>C	2	223163275	223163275	G	C	PAX3	c.60C>G	NM_181459.3	NP_852124.1:p.(Tyr20Ter)	NC_000002.11:g.223163275G>C	(Likely) pathogenic	1 lab	5e84b145ea
10:18803228 CACNB2 C>T	10	18803228	18803228	C	T	CACNB2	c.734C>T	NM_201596.3	NP_963890.2:p.(Ser245Phe)	NC_000010.10:g.18803228C>T	VUS	1 lab	5e850b75c0
X:584975 SHOX C>A	X	584975	584975	C	A	SHOX				NC_000023.10:g.584975C>A	(Likely) benign	1 lab	5e89bc2ce1
17:59820506 BRIP1 A>T	17	59820506	59820506	A	T	BRIP1	c.2258-11T>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59820506A>T	VUS	1 lab	5e8e9691e5
17:41243425 BRCA1 G>A	17	41243425	41243425	G	A	BRCA1	c.4096+27C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243425G>A	(Likely) benign	1 lab	5e91cbc38b
1:215901623 USH2A C>T	1	215901623	215901623	C	T	USH2A	c.11815G>A	NM_206933.2	NP_996816.2:p.(Glu3939Lys)	NC_000001.10:g.215901623C>T	VUS	1 lab	5e967aa3a1
17:18052173 MYO15A C>T	17	18052173	18052173	C	T	MYO15A	c.6863C>T	NM_016239.3	NP_057323.3:p.(Ser2288Leu)	NC_000017.10:g.18052173C>T	VUS	1 lab	5e97264cbf
3:37035210 MLH1 C>G	3	37035210	37035210	C	G	MLH1	c.116+56C>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37035210C>G	(Likely) benign	1 lab	5e97f2b43f
18:56056325 NEDD4L G>A	18	56056325	56056325	G	A	NEDD4L	c.2556G>A	NM_001144967.3	NP_001138439.1:p.(Met852Ile)	NC_000018.9:g.56056325G>A	VUS	1 lab	5e98056040
19:31767537 TSHZ3 G>A	19	31767537	31767537	G	A	TSHZ3	c.3162C>T	NM_020856.4	NP_065907.2:p.(His1054=)	NC_000019.9:g.31767537G>A	(Likely) benign	1 lab	09090eac1c
1:209961889 IRF6 T>C	1	209961889	209961889	T	C	IRF6	c.1280A>G	NM_006147.4	NP_006138.1:p.(Asp427Gly)	NC_000001.10:g.209961889T>C	VUS	1 lab	5e9a0a5b00
5:150028651 SYNPO C>T	5	150028651	150028651	C	T	SYNPO	c.814C>T	NM_007286.6	NP_009217.3:p.(Pro272Ser)	NC_000005.9:g.150028651C>T	(Likely) benign	1 lab	090b2682a6
13:113793743 F10 G>A	13	113793743	113793743	G	A	F10	c.329G>A	NM_000504.3	NP_000495.1:p.(Cys110Tyr)	NC_000013.10:g.113793743G>A	(Likely) pathogenic	1 lab	5e9a94ce75
11:103158287 DYNC2H1 C>T	11	103158287	103158287	C	T	DYNC2H1	c.11048C>T	NM_001377.3	NP_001368.2:p.(Pro3683Leu)	NC_000011.9:g.103158287C>T	(Likely) pathogenic	1 lab	5ec570e2c7
11:2466529 KCNQ1 GGCCGCGCCC>G	11	2466529	2466547	GGCCGCGCCC	G	KCNQ1	c.211_219del	NM_000218.2	NP_000209.2:p.(Ala71_Pro73del)	NC_000011.9:g.2466539_2466547del	(Likely) benign	1 lab	5e9b0a447f
20:34092129 CEP250 C>T	20	34092129	34092129	C	T	CEP250	c.5932C>T	NM_007186.5	NP_009117.2:p.(Gln1978Ter)	NC_000020.10:g.34092129C>T	VUS	1 lab	5e9b3c53d5
5:78280934 ARSB G>T	5	78280934	78280934	G	T	ARSB	c.138C>A	NM_000046.5	NP_000037.2:p.(His46Gln)	NC_000005.9:g.78280934G>T	VUS	1 lab	5e9c658676
2:74129474 ACTG2 T>C	2	74129474	74129474	T	C	ACTG2	c.127-13T>C	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74129474T>C	(Likely) benign	1 lab	5e9cdae236
12:112884093 PTPN11 A>G	12	112884093	112884093	A	G	PTPN11	c.28A>G	NM_002834.3	NP_002825.3:p.(Asn10Asp)	NC_000012.11:g.112884093A>G	VUS	1 lab	5ea7e912cf
11:47367915 MYBPC3 C>G	11	47367915	47367915	C	G	MYBPC3	c.933G>C	NM_000256.3	NP_000247.2:p.(Ser311=)	NC_000011.9:g.47367915C>G	(Likely) benign	1 lab	5ea97bc5c8
5:90149807 ADGRV1 G>C	5	90149807	90149807	G	C	ADGRV1	c.17455-72G>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90149807G>C	(Likely) benign	1 lab	090b3478a2
1:196927176 CFHR2 C>A	1	196927176	196927176	C	A	CFHR2	c.586C>A	NM_005666.4	NP_005657.1:p.(Gln196Lys)	NC_000001.10:g.196927176C>A	VUS	1 lab	5eab11cf48
16:15826469 MYH11 G>C	16	15826469	15826469	G	C	MYH11	c.3603C>G	NM_002474.3	NP_002465.1:p.(His1201Gln)	NC_000016.9:g.15826469G>C	VUS	1 lab	5eaefd39da
9:77376633 TRPM6 A>G	9	77376633	77376633	A	G	TRPM6	c.4764T>C	NM_017662.4	NP_060132.3:p.(Asn1588=)	NC_000009.11:g.77376633A>G	(Likely) benign	1 lab	5eb04a9e9f
6:65300805 EYS G>C	6	65300805	65300805	G	C	EYS	c.4955C>G	NM_001142800.1	NP_001136272.1:p.(Ser1652Ter)	NC_000006.11:g.65300805G>C	(Likely) pathogenic	1 lab	5eb8a925a1
8:41791876 KAT6A CCT>C	8	41791876	41791880	CCT	C	KAT6A	c.3860_3861del	NM_006766.4	NP_006757.2:p.(Glu1287GlyfsTer25)	NC_000008.10:g.41791879_41791880del	(Likely) pathogenic	1 lab	5eba90b166
20:3063710 AVP TCTC>T	20	3063710	3063718	TCTC	T	AVP	c.232_234del	NM_000490.5	NP_000481.2:p.(Glu78del)	NC_000020.10:g.3063716_3063718del	(Likely) pathogenic	1 lab	5ebaa2a07b
2:48925986 LHCGR AT>A	2	48925986	48925998	AT	A	LHCGR	c.681-48del	NM_000233.4	NP_000224.2:p.?	NC_000002.11:g.48925998del	(Likely) benign	1 lab	800c53e5fa
12:6443278 TNFRSF1A A>G	12	6443278	6443278	A	G	TNFRSF1A	c.172T>C	NM_001065.3	NP_001056.1:p.(Cys58Arg)	NC_000012.11:g.6443278A>G	(Likely) pathogenic	1 lab	090d6c6db3
6:87969393 ZNF292 A>T	6	87969393	87969393	A	T	ZNF292	c.6046A>T	NM_015021.3	NP_055836.1:p.(Lys2016Ter)	NC_000006.11:g.87969393A>T	(Likely) pathogenic	1 lab	5ec7f9f838
19:6697450 C3 C>G	19	6697450	6697450	C	G	C3	c.2701G>C	NM_000064.4	NP_000055.2:p.(Val901Leu)	NC_000019.9:g.6697450C>G	VUS	1 lab	5ec902c8a0
2:26697422 OTOF C>G	2	26697422	26697422	C	G	OTOF	c.3247G>C	NM_194248.2	NP_919224.1:p.(Ala1083Pro)	NC_000002.11:g.26697422C>G	(Likely) benign	1 lab	5ecb18848f
8:106815224 ZFPM2 A>G	8	106815224	106815224	A	G	ZFPM2	c.2914A>G	NM_012082.3	NP_036214.2:p.(Ile972Val)	NC_000008.10:g.106815224A>G	VUS	1 lab	5ecba8470b
15:89873315 POLG G>A	15	89873315	89873315	G	A	POLG	c.852C>T	NM_002693.2	NP_002684.1:p.(Ile284=)	NC_000015.9:g.89873315G>A	(Likely) benign	1 lab	090e7aef5a
4:151752960 LRBA CAA>C	4	151752960	151752963	CAA	C	LRBA	c.4729+7_4729+8del	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151752962_151752963del	(Likely) benign	1 lab	090ff904c9
7:151478406 PRKAG2 C>G	7	151478406	151478406	C	G	PRKAG2	c.298G>C	NM_016203.4	NP_057287.2:p.(Gly100Arg)	NC_000007.13:g.151478406C>G	(Likely) benign	1 lab	5ed02f14a6
15:85370597 ALPK3 C>G	15	85370597	85370597	C	G	ALPK3	c.789-118C>G	NM_020778.4	NP_065829.3:p.?	NC_000015.9:g.85370597C>G	(Likely) benign	1 lab	0910d3a3b1
16:162740 MISSING T>C	16	162740	162740	T	C	MISSING				NC_000016.9:g.162740T>C	VUS	1 lab	5ed30fe607
5:98223848 CHD1 C>T	5	98223848	98223848	C	T	CHD1	c.2440G>A	NM_001270.4	NP_001261.2:p.(Val814Met)	NC_000005.9:g.98223848C>T	VUS	1 lab	5ed4c3edf4
1:156106950 LMNA T>G	1	156106950	156106950	T	G	LMNA	c.1535T>G	NM_170707.3	NP_733821.1:p.(Leu512Arg)	NC_000001.10:g.156106950T>G	VUS	1 lab	5ed5c0d064
16:2156931 PKD1 G>A	16	2156931	2156931	G	A	PKD1	c.7084C>T	NM_001009944.3	NP_001009944.3:p.(Arg2362Trp)	NC_000016.9:g.2156931G>A	VUS	1 lab	5ed71c3d6e
1:196749097 CFHR3 C>T	1	196749097	196749097	C	T	CFHR3	c.424C>T	NM_021023.5	NP_066303.2:p.(Arg142Cys)	NC_000001.10:g.196749097C>T	(Likely) benign	1 lab	5edac84f3e
3:120357430 HGD T>A	3	120357430	120357430	T	A	HGD	c.880-2A>T	NM_000187.4	NP_000178.2:p.?	NC_000003.11:g.120357430T>A	(Likely) pathogenic	1 lab	5edd3bf77a
7:155595946 SHH G>A	7	155595946	155595946	G	A	SHH	c.1037C>T	NM_000193.3	NP_000184.1:p.(Ala346Val)	NC_000007.13:g.155595946G>A	(Likely) pathogenic	1 lab	5ee1b1f738
21:38884451 DYRK1A AC>A	21	38884451	38884452	AC	A	DYRK1A	c.1883del	NM_001347721.2	NP_001334650.1:p.(Thr628ArgfsTer19)	NC_000021.8:g.38884452del	(Likely) pathogenic	1 lab	5ee24ba89b
4:5570170 EVC2 C>T	4	5570170	5570170	C	T	EVC2	c.3557+1G>A	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5570170C>T	(Likely) pathogenic	1 lab	5ee457473b
X:40994008 USP9X G>A	X	40994008	40994008	G	A	USP9X	c.353G>A	NM_001039591.3	NP_001034680.2:p.(Arg118Gln)	NC_000023.10:g.40994008G>A	VUS	1 lab	5ee51cd003
9:126125218 CRB2 G>A	9	126125218	126125218	G	A	CRB2	c.169G>A	NM_173689.6	NP_775960.4:p.(Glu57Lys)	NC_000009.11:g.126125218G>A	VUS	1 lab	5ee590d2d2
7:97488629 ASNS A>C	7	97488629	97488629	A	C	ASNS	c.569T>G	NM_183356.3	NP_899199.2:p.(Leu190Ter)	NC_000007.13:g.97488629A>C	(Likely) pathogenic	1 lab	5ef11d4f1f
17:59763352 BRIP1 CTGTACTTT>C	17	59763352	59763360	CTGTACTTT	C	BRIP1				NC_000017.10:g.59763353_59763360del	VUS	1 lab	5ef12dd8cd
8:61763075 CHD7 C>T	8	61763075	61763075	C	T	CHD7				NC_000008.10:g.61763075C>T	(Likely) pathogenic	1 lab	5ef4a2161d
12:13764855 GRIN2B T>G	12	13764855	13764855	T	G	GRIN2B	c.1655-71A>C	NM_000834.4	NP_000825.2:p.?	NC_000012.11:g.13764855T>G	(Likely) benign	1 lab	091c34a30b
3:39226158 XIRP1 G>T	3	39226158	39226158	G	T	XIRP1	c.4779C>A	NM_194293.4	NP_919269.2:p.(Ser1593Arg)	NC_000003.11:g.39226158G>T	(Likely) benign	1 lab	091c4cf9da
13:32906908 BRCA2 A>G	13	32906908	32906908	A	G	BRCA2	c.1293A>G	NM_000059.3	NP_000050.2:p.(Thr431=)	NC_000013.10:g.32906908A>G	(Likely) benign	1 lab	5ef73be448
9:135804232 TSC1 G>A	9	135804232	135804232	G	A	TSC1	c.28C>T	NM_000368.5	NP_000359.1:p.(Leu10Phe)	NC_000009.11:g.135804232G>A	VUS	1 lab	5ef9f5f77c
12:6161902 VWF AG>A	12	6161902	6161907	AG	A	VWF	c.1992del	NM_000552.5	NP_000543.3:p.(Cys665AlafsTer3)	NC_000012.11:g.6161907del	(Likely) pathogenic	1 lab	5efd1587ed
1:179520422 NPHS2 T>C	1	179520422	179520422	T	C	NPHS2	c.1038A>G	NM_014625.2	NP_055440.1:p.(Leu346=)	NC_000001.10:g.179520422T>C	(Likely) benign	1 lab	5efd4abc12
16:89347788 ANKRD11 G>A	16	89347788	89347788	G	A	ANKRD11	c.5162C>T	NM_013275.5	NP_037407.4:p.(Thr1721Met)	NC_000016.9:g.89347788G>A	VUS	1 lab	5f02e5c4de
2:179401225 TTN C>T	2	179401225	179401225	C	T	TTN	c.100249G>A	NM_001267550.2	NP_001254479.2:p.(Ala33417Thr)	NC_000002.11:g.179401225C>T	(Likely) benign	1 lab	5f050ec16e
17:7605865 WRAP53 C>T	17	7605865	7605865	C	T	WRAP53	c.1159C>T	NM_018081.2	NP_060551.2:p.(Arg387Cys)	NC_000017.10:g.7605865C>T	(Likely) pathogenic	1 lab	5f055c3f3d
16:1245967 CACNA1H C>T	16	1245967	1245967	C	T	CACNA1H	c.587C>T	NM_021098.2	NP_066921.2:p.(Ser196Leu)	NC_000016.9:g.1245967C>T	VUS	1 lab	5f078c69a8
5:37350275 NUP155 C>T	5	37350275	37350275	C	T	NUP155	c.816G>A	NM_153485.2	NP_705618.1:p.(Thr272=)	NC_000005.9:g.37350275C>T	(Likely) benign	1 lab	5f0926dabd
2:173894962 RAPGEF4 C>T	2	173894962	173894962	C	T	RAPGEF4	c.2629C>T	NM_007023.3	NP_008954.2:p.(Arg877Cys)	NC_000002.11:g.173894962C>T	VUS	1 lab	5f0b3b3bb2
1:22970616 C1QC G>A	1	22970616	22970616	G	A	C1QC				NC_000001.10:g.22970616G>A	(Likely) pathogenic	1 lab	5f0ccedbbb
11:533833 HRAS C>G	11	533833	533833	C	G	HRAS	c.223G>C	NM_005343.4	NP_005334.1:p.(Gly75Arg)	NC_000011.9:g.533833C>G	VUS	1 lab	5f0e9322c2
3:169482794 TERC T>A	3	169482794	169482794	T	A	TERC	n.55A>T	NR_001566.3		NC_000003.11:g.169482794T>A	VUS	1 lab	62588515ca
22:32301781 DEPDC5 G>A	22	32301781	32301781	G	A	DEPDC5	c.4437-189G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32301781G>A	(Likely) benign	1 lab	091d1abee6
12:89744488 DUSP6 C>G	12	89744488	89744488	C	G	DUSP6	c.715G>C	NM_001946.4	NP_001937.2:p.(Val239Leu)	NC_000012.11:g.89744488C>G	VUS	1 lab	5f12220aac
13:23909324 SACS C>T	13	23909324	23909324	C	T	SACS	c.8691G>A	NM_014363.4	NP_055178.3:p.(Trp2897Ter)	NC_000013.10:g.23909324C>T	(Likely) pathogenic	1 lab	5f143329c9
4:53476743 USP46 T>C	4	53476743	53476743	T	C	USP46	c.602A>G	NM_022832.3	NP_073743.2:p.(Asp201Gly)	NC_000004.11:g.53476743T>C	VUS	1 lab	5f150cdfe2
15:63340895 TPM1 C>A	15	63340895	63340895	C	A	TPM1	c.121C>A	NM_001018008.2	NP_001018008.1:p.(Leu41Met)	NC_000015.9:g.63340895C>A	(Likely) benign	1 lab	091d4095a0
10:18823159 CACNB2 A>T	10	18823159	18823159	A	T	CACNB2	c.1041+3A>T	NM_000724.3	NP_000715.2:p.?	NC_000010.10:g.18823159A>T	(Likely) benign	1 lab	5f1d4e8562
X:53245274 KDM5C T>A	X	53245274	53245274	T	A	KDM5C	c.763A>T	NM_004187.5	NP_004178.2:p.(Lys255Ter)	NC_000023.10:g.53245274T>A	(Likely) pathogenic	1 lab	5f1e07acf4
2:202074033 CASP10 G>A	2	202074033	202074033	G	A	CASP10	c.1163G>A	NM_032977.3	NP_116759.2:p.(Arg388Lys)	NC_000002.11:g.202074033G>A	(Likely) benign	1 lab	091df24e45
5:70930811 MCCC2 A>C	5	70930811	70930811	A	C	MCCC2	c.845A>C	NM_022132.4	NP_071415.1:p.(His282Pro)	NC_000005.9:g.70930811A>C	VUS	1 lab	5f229faf53
6:38840444 DNAH8 A>C	6	38840444	38840444	A	C	DNAH8	c.7123A>C	NM_001206927.2	NP_001193856.1:p.(Asn2375His)	NC_000006.11:g.38840444A>C	VUS	1 lab	5f24443488
7:91609596 AKAP9 G>T	7	91609596	91609596	G	T	AKAP9	c.307-7G>T	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91609596G>T	(Likely) benign	1 lab	5f2b382144
20:62659898 PRPF6 G>T	20	62659898	62659898	G	T	PRPF6	c.2407G>T	NM_012469.3	NP_036601.2:p.(Ala803Ser)	NC_000020.10:g.62659898G>T	VUS	1 lab	5f334191ae
22:36744995 MYH9 G>A	22	36744995	36744995	G	A	MYH9	c.287C>T	NM_002473.4	NP_002464.1:p.(Ser96Leu)	NC_000022.10:g.36744995G>A	(Likely) pathogenic	1 lab	5f33e5d41a
20:6078246 FERMT1 C>T	20	6078246	6078246	C	T	FERMT1	c.882G>A	NM_017671.5	NP_060141.3:p.(Glu294=)	NC_000020.10:g.6078246C>T	(Likely) benign	1 lab	091e8d7546
16:68845809 CDH1 T>C	16	68845809	68845809	T	C	CDH1	c.1008+47T>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68845809T>C	(Likely) benign	1 lab	5f3983f048
16:68846137 CDH1 G>T	16	68846137	68846137	G	T	CDH1	c.1108G>T	NM_004360.5	NP_004351.1:p.(Asp370Tyr)	NC_000016.9:g.68846137G>T	VUS	1 lab	5f3c0badd8
15:23890602 MAGEL2 G>C	15	23890602	23890602	G	C	MAGEL2	c.2288C>G	NM_019066.4	NP_061939.3:p.(Ser763Ter)	NC_000015.9:g.23890602G>C	(Likely) pathogenic	1 lab	5f4318d1d9
3:176767849 TBL1XR1 T>C	3	176767849	176767849	T	C	TBL1XR1	c.638A>G	NM_024665.7	NP_078941.2:p.(His213Arg)	NC_000003.11:g.176767849T>C	(Likely) benign	1 lab	5f465396dc
12:25380244 KRAS T>G	12	25380244	25380244	T	G	KRAS	c.214A>C	NM_033360.2	NP_203524.1:p.(Met72Leu)	NC_000012.11:g.25380244T>G	(Likely) pathogenic	1 lab	5f4a034f46
2:48028096 MSH6 G>T	2	48028096	48028096	G	T	MSH6	c.2974G>T	NM_000179.2	NP_000170.1:p.(Glu992Ter)	NC_000002.11:g.48028096G>T	(Likely) pathogenic	1 lab	5f4b6bb138
1:152277396 FLG T>C	1	152277396	152277396	T	C	FLG	c.9966A>G	NM_002016.1	NP_002007.1:p.(Gln3322=)	NC_000001.10:g.152277396T>C	(Likely) benign	1 lab	5f4fdd8b81
7:1514343 INTS1 G>GAGC	7	1514343	1514355	G	GAGC	INTS1	c.5631_5633dup	NM_001080453.2	NP_001073922.2:p.(Leu1878dup)	NC_000007.13:g.1514353_1514355dup	VUS	1 lab	5f51a0560f
17:71204565 COG1 G>A	17	71204565	71204565	G	A	COG1	c.2918G>A	NM_018714.2	NP_061184.1:p.(Gly973Asp)	NC_000017.10:g.71204565G>A	(Likely) benign	1 lab	5f57b4ac9d
9:103340658 CAVIN4 C>T	9	103340658	103340658	C	T	CAVIN4	c.233C>T	NM_001018116.2	NP_001018126.1:p.(Ser78Leu)	NC_000009.11:g.103340658C>T	(Likely) benign	1 lab	09216d9813
X:605107 SHOX G>C	X	605107	605107	G	C	SHOX	c.634-19G>C	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.605107G>C	(Likely) benign	1 lab	5f5d1d9572
2:167160837 SCN9A T>C	2	167160837	167160837	T	C	SCN9A	c.599A>G	NM_002977.3	NP_002968.1:p.(Tyr200Cys)	NC_000002.11:g.167160837T>C	VUS	1 lab	5f613b5b30
14:23894267 MYH7 C>A	14	23894267	23894267	C	A	MYH7	c.2424-34G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23894267C>A	(Likely) benign	1 lab	5f628a821b
1:241665861 FH T>A	1	241665861	241665861	T	A	FH	c.1118A>T	NM_000143.4	NP_000134.2:p.(Asn373Ile)	NC_000001.10:g.241665861T>A	(Likely) pathogenic	1 lab	5f66015671
4:149041369 NR3C2 G>A	4	149041369	149041369	G	A	NR3C2	c.2581C>T	NM_000901.4	NP_000892.2:p.(Arg861Ter)	NC_000004.11:g.149041369G>A	(Likely) pathogenic	1 lab	5f67cbb5ac
14:36987025 NKX2-1 C>A	14	36987025	36987025	C	A	NKX2-1	c.664G>T	NM_001079668.3	NP_001073136.1:p.(Glu222Ter)	NC_000014.8:g.36987025C>A	(Likely) pathogenic	1 lab	5f6b224b79
2:47703652 MSH2 C>T	2	47703652	47703652	C	T	MSH2	c.2152C>T	NM_000251.2	NP_000242.1:p.(Gln718Ter)	NC_000002.11:g.47703652C>T	(Likely) pathogenic	1 lab	5f6cd7eddf
16:23646231 PALB2 C>T	16	23646231	23646231	C	T	PALB2	c.1636G>A	NM_024675.3	NP_078951.2:p.(Val546Ile)	NC_000016.9:g.23646231C>T	(Likely) benign	1 lab	5f7389d08d
2:48925746 STON1-GTF2A1L C>T	2	48925746	48925746	C	T	STON1-GTF2A1L				NC_000002.11:g.48925746C>T	(Likely) benign	1 lab	5f75b436cb
2:179398768 TTN C>A	2	179398768	179398768	C	A	TTN	c.102574G>T	NM_001267550.2	NP_001254479.2:p.(Ala34192Ser)	NC_000002.11:g.179398768C>A	VUS	1 lab	5f75cf8835
3:67053839 KBTBD8 C>T	3	67053839	67053839	C	T	KBTBD8	c.448C>T	NM_032505.2	NP_115894.2:p.(Gln150Ter)	NC_000003.11:g.67053839C>T	VUS	1 lab	5f75fc2c7e
19:6681991 C3 G>A	19	6681991	6681991	G	A	C3	c.4311C>T	NM_000064.3	NP_000055.2:p.(Ala1437=)	NC_000019.9:g.6681991G>A	(Likely) benign	1 lab	5f7d8813b4
1:981633 AGRN G>C	1	981633	981633	G	C	AGRN	c.2899G>C	NM_001305275.2	NP_001292204.1:p.(Gly967Arg)	NC_000001.10:g.981633G>C	VUS	1 lab	0923cd0d61
5:60839983 ZSWIM6 C>T	5	60839983	60839983	C	T	ZSWIM6	c.3487C>T	NM_020928.1	NP_065979.1:p.(Arg1163Trp)	NC_000005.9:g.60839983C>T	(Likely) pathogenic	1 lab	5f810fd9ca
9:2717698 KCNV2 C>G	9	2717698	2717698	C	G	KCNV2	c.-42C>G	NM_133497.3	NP_598004.1:p.?	NC_000009.11:g.2717698C>G	(Likely) benign	1 lab	5f82363af9
12:2791727 CACNA1C G>A	12	2791727	2791727	G	A	CACNA1C	c.5456G>A	NM_000719.6	NP_000710.5:p.(Arg1819Gln)	NC_000012.11:g.2791727G>A	(Likely) benign	1 lab	5f8670c109
17:36485992 GPR179 G>A	17	36485992	36485992	G	A	GPR179	c.3460C>T	NM_001004334.4	NP_001004334.3:p.(Gln1154Ter)	NC_000017.10:g.36485992G>A	VUS	1 lab	5f87d77664
17:62025238 SCN4A G>T	17	62025238	62025238	G	T	SCN4A	c.3318+12C>A	NM_000334.4	NP_000325.4:p.?	NC_000017.10:g.62025238G>T	(Likely) benign	1 lab	5f88118ac3
2:166851036 SCN1A G>T	2	166851036	166851036	G	T	SCN1A	c.4582-110C>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166851036G>T	(Likely) benign	1 lab	09282afe4b
2:223066909 PAX3 C>G	2	223066909	223066909	C	G	PAX3	c.1174G>C	NM_181459.3	NP_852124.1:p.(Val392Leu)	NC_000002.11:g.223066909C>G	(Likely) benign	1 lab	5f8cb0bbea
17:39768567 KRT16 T>C	17	39768567	39768567	T	C	KRT16	c.374A>G	NM_005557.3	NP_005548.2:p.(Asn125Ser)	NC_000017.10:g.39768567T>C	(Likely) pathogenic	1 lab	5f9389b6da
2:38302177 CYP1B1 C>A	2	38302177	38302177	C	A	CYP1B1	c.355G>T	NM_000104.3	NP_000095.2:p.(Ala119Ser)	NC_000002.11:g.38302177C>A	(Likely) benign	1 lab	5f94455117
5:180045908 FLT4 C>G	5	180045908	180045908	C	G	FLT4	c.2863G>C	NM_182925.4	NP_891555.2:p.(Glu955Gln)	NC_000005.9:g.180045908C>G	(Likely) benign	1 lab	5f9748ca4e
3:37053592 MLH1 T>C	3	37053592	37053592	T	C	MLH1	c.677+2T>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37053592T>C	(Likely) pathogenic	1 lab	5f97f5ea47
7:92735165 SAMD9 C>T	7	92735165	92735165	C	T	SAMD9	c.246G>A	NM_017654.4	NP_060124.2:p.(Ser82=)	NC_000007.13:g.92735165C>T	(Likely) benign	1 lab	380a11b9fe
1:26769261 DHDDS A>C	1	26769261	26769261	A	C	DHDDS	c.220A>C	NM_024887.3	NP_079163.2:p.(Thr74Pro)	NC_000001.10:g.26769261A>C	(Likely) benign	1 lab	5f996bacdb
10:73767277 CHST3 A>T	10	73767277	73767277	A	T	CHST3	c.488A>T	NM_004273.4	NP_004264.2:p.(Glu163Val)	NC_000010.10:g.73767277A>T	VUS	1 lab	5f9b99776a
11:2592531 KCNQ1 C>A	11	2592531	2592531	C	A	KCNQ1	c.605-24C>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2592531C>A	(Likely) benign	1 lab	5f9c685cb0
2:179485481 TTN C>T	2	179485481	179485481	C	T	TTN	c.45856G>A	NM_001267550.2	NP_001254479.2:p.(Gly15286Ser)	NC_000002.11:g.179485481C>T	(Likely) benign	1 lab	5fa0acd3a4
14:74989611 LTBP2 T>C	14	74989611	74989611	T	C	LTBP2	c.2541A>G	NM_000428.3	NP_000419.1:p.(Arg847=)	NC_000014.8:g.74989611T>C	VUS	1 lab	5fa25ba310
2:179604357 TTN C>A	2	179604357	179604357	C	A	TTN	c.13603G>T	NM_001267550.2	NP_001254479.2:p.(Val4535Phe)	NC_000002.11:g.179604357C>A	(Likely) benign	1 lab	5fa3186024
1:159751108 DUSP23 A>G	1	159751108	159751108	A	G	DUSP23	c.218A>G	NM_017823.3	NP_060293.2:p.(Gln73Arg)	NC_000001.10:g.159751108A>G	VUS	1 lab	5fa4c4e18f
13:110864021 COL4A1 C>G	13	110864021	110864021	C	G	COL4A1	c.442-1G>C	NM_001845.4	NP_001836.2:p.?	NC_000013.10:g.110864021C>G	(Likely) pathogenic	1 lab	5fa587bdd4
2:189916110 COL5A2 C>G	2	189916110	189916110	C	G	COL5A2	c.2867G>C	NM_000393.5	NP_000384.2:p.(Arg956Pro)	NC_000002.11:g.189916110C>G	(Likely) benign	1 lab	092c4fc080
14:23862977 MYH6 C>T	14	23862977	23862977	C	T	MYH6	c.2826G>A	NM_002471.3	NP_002462.2:p.(Lys942=)	NC_000014.8:g.23862977C>T	(Likely) benign	1 lab	5fa72705ed
4:149115957 NR3C2 G>A	4	149115957	149115957	G	A	NR3C2	c.1954C>T	NM_000901.4	NP_000892.2:p.(Arg652Ter)	NC_000004.11:g.149115957G>A	(Likely) pathogenic	1 lab	5fa99b0182
12:6153632 VWF A>T	12	6153632	6153632	A	T	VWF	c.2282-15T>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6153632A>T	(Likely) benign	1 lab	5fab2c0aca
X:153421826 OPN1LW CGC>G	X	153421826	153421828	CGC	G	OPN1LW	c.802_804delinsG	NM_020061.4	NP_064445.1:p.(Arg268AspfsTer74)	NC_000023.10:g.153421826_153421828delinsG	(Likely) pathogenic	1 lab	5fac23b894
7:100275210 GNB2 C>G	7	100275210	100275210	C	G	GNB2	c.357C>G	NM_005273.4	NP_005264.2:p.(Asn119Lys)	NC_000007.13:g.100275210C>G	VUS	1 lab	5faf81a50a
12:116446835 MED13L A>C	12	116446835	116446835	A	C	MED13L	c.1383T>G	NM_015335.4	NP_056150.1:p.(Pro461=)	NC_000012.11:g.116446835A>C	(Likely) benign	1 lab	5fb14b2ca7
16:68849663 CDH1 G>A	16	68849663	68849663	G	A	CDH1	c.1565+1G>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68849663G>A	(Likely) pathogenic	1 lab	5fb866a0b9
2:47637371 MSH2 A>G	2	47637371	47637371	A	G	MSH2	c.505A>G	NM_000251.2	NP_000242.1:p.(Ile169Val)	NC_000002.11:g.47637371A>G	(Likely) benign	1 lab	5fbac39ae8
10:67829174 CTNNA3 T>C	10	67829174	67829174	T	C	CTNNA3	c.2051A>G	NM_013266.3	NP_037398.2:p.(Lys684Arg)	NC_000010.10:g.67829174T>C	VUS	1 lab	5fbbee918b
19:42471896 ATP1A3 C>T	19	42471896	42471896	C	T	ATP1A3				NC_000019.9:g.42471896C>T	(Likely) pathogenic	1 lab	5fbbff2be0
5:125885678 ALDH7A1 A>T	5	125885678	125885678	A	T	ALDH7A1	c.1432T>A	NM_001182.5	NP_001173.2:p.(Cys478Ser)	NC_000005.9:g.125885678A>T	(Likely) pathogenic	1 lab	5fbd6f548c
1:220315180 IARS2 G>A	1	220315180	220315180	G	A	IARS2	c.2450G>A	NM_018060.4	NP_060530.3:p.(Arg817His)	NC_000001.10:g.220315180G>A	(Likely) pathogenic	1 lab	5fc40beef5
6:66349752 EYS C>T	6	66349752	66349752	C	T	EYS	c.-414G>A	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.66349752C>T	(Likely) benign	1 lab	5fc879facd
16:68725834 CDH3 G>C	16	68725834	68725834	G	C	CDH3	c.2002+5G>C	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68725834G>C	(Likely) pathogenic	1 lab	5fcb8532e4
1:151384771 POGZ C>T	1	151384771	151384771	C	T	POGZ	c.1779+1G>A	NM_015100.3	NP_055915.2:p.?	NC_000001.10:g.151384771C>T	(Likely) pathogenic	1 lab	5fceb1ab54
4:187205420 F11 T>C	4	187205420	187205420	T	C	F11	c.1304+6T>C	NM_000128.3	NP_000119.1:p.?	NC_000004.11:g.187205420T>C	VUS	1 lab	5fcf01e11d
6:152461140 SYNE1 C>T	6	152461140	152461140	C	T	SYNE1				NC_000006.11:g.152461140C>T	(Likely) benign	1 lab	6475c8d802
14:50088697 MGAT2 G>C	14	50088697	50088697	G	C	MGAT2	c.711G>C	NM_002408.3	NP_002399.1:p.(Lys237Asn)	NC_000014.8:g.50088697G>C	(Likely) pathogenic	1 lab	5fcfad139a
6:88229358 RARS2 C>T	6	88229358	88229358	C	T	RARS2	c.1180G>A	NM_020320.3	NP_064716.2:p.(Glu394Lys)	NC_000006.11:g.88229358C>T	VUS	1 lab	5fd4020be5
2:179485612 TTN C>T	2	179485612	179485612	C	T	TTN	c.18905G>A	NM_133432.3	NP_597676.3:p.(Arg6302Lys)	NC_000002.11:g.179485612C>T	(Likely) benign	1 lab	092c5b7d31
18:19029672 GREB1L C>T	18	19029672	19029672	C	T	GREB1L	c.1595C>T	NM_001142966.2	NP_001136438.1:p.(Ala532Val)	NC_000018.9:g.19029672C>T	VUS	1 lab	5fd81efe7b
2:179392223 TTN A>G	2	179392223	179392223	A	G	TTN	c.107630T>C	NM_001267550.2	NP_001254479.2:p.(Met35877Thr)	NC_000002.11:g.179392223A>G	VUS	1 lab	5fdc6f576f
1:245847534 KIF26B G>A	1	245847534	245847534	G	A	KIF26B	c.2259-1G>A	NM_018012.4	NP_060482.2:p.?	NC_000001.10:g.245847534G>A	VUS	1 lab	5fde0b4396
2:47710165 MSH2 C>A	2	47710165	47710165	C	A	MSH2	c.*77C>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47710165C>A	(Likely) benign	1 lab	5fde26367a
1:12059082 MFN2 C>T	1	12059082	12059082	C	T	MFN2	c.746C>T	NM_014874.4	NP_055689.1:p.(Ser249Phe)	NC_000001.10:g.12059082C>T	(Likely) pathogenic	1 lab	5fe2921b0c
11:31815627 PAX6 G>A	11	31815627	31815627	G	A	PAX6	c.718C>T	NM_000280.4	NP_000271.1:p.(Arg240Ter)	NC_000011.9:g.31815627G>A	(Likely) pathogenic	1 lab	5fe300cfdb
7:50595580 DDC G>T	7	50595580	50595580	G	T	DDC	c.714+255C>A	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50595580G>T	(Likely) pathogenic	1 lab	5fe33c8774
1:65871642 DNAJC6 C>T	1	65871642	65871642	C	T	DNAJC6				NC_000001.10:g.65871642C>T	(Likely) pathogenic	1 lab	612dabb137
7:73474304 ELN T>C	7	73474304	73474304	T	C	ELN	c.1503T>C	NM_000501.3	NP_000492.2:p.(Val501=)	NC_000007.13:g.73474304T>C	(Likely) benign	1 lab	5fe5c40662
8:126061406 WASHC5 G>C	8	126061406	126061406	G	C	WASHC5	c.2221C>G	NM_014846.4	NP_055661.3:p.(Leu741Val)	NC_000008.10:g.126061406G>C	VUS	1 lab	5fe89d5d86
21:39755656 ERG C>G	21	39755656	39755656	C	G	ERG	c.1058G>C	NM_004449.4	NP_004440.1:p.(Arg353Pro)	NC_000021.8:g.39755656C>G	VUS	1 lab	5fe8e5c852
22:40662273 TNRC6B G>A	22	40662273	40662273	G	A	TNRC6B	c.2039G>A	NM_015088.2	NP_055903.2:p.(Trp680Ter)	NC_000022.10:g.40662273G>A	VUS	1 lab	5fe8e89850
2:48018143 MSH6 A>AC	2	48018143	48018147	A	AC	MSH6	c.342dup	NM_000179.2	NP_000170.1:p.(Phe115LeufsTer2)	NC_000002.11:g.48018147dup	(Likely) pathogenic	1 lab	5fe9a5a9ba
13:32906831 BRCA2 G>C	13	32906831	32906831	G	C	BRCA2	c.1216G>C	NM_000059.3	NP_000050.2:p.(Ala406Pro)	NC_000013.10:g.32906831G>C	(Likely) benign	1 lab	5fea52cb5a
2:179439785 TTN T>G	2	179439785	179439785	T	G	TTN	c.71074A>C	NM_001267550.2	NP_001254479.2:p.(Asn23692His)	NC_000002.11:g.179439785T>G	VUS	1 lab	5febf2afee
3:38618271 SCN5A G>T	3	38618271	38618271	G	T	SCN5A	c.3392C>A	NM_198056.2	NP_932173.1:p.(Thr1131Asn)	NC_000003.11:g.38618271G>T	(Likely) pathogenic	1 lab	092fa2d8ec
2:48027048 MSH6 TTT>AAATA	2	48027048	48027050	TTT	AAATA	MSH6	c.1926_1928delinsAAATA	NM_000179.2	NP_000170.1:p.(Tyr642Ter)	NC_000002.11:g.48027048_48027050delinsAAATA	(Likely) pathogenic	1 lab	5fee486f2f
17:78092054 GAA C>T	17	78092054	78092054	C	T	GAA	c.2544C>T	NM_001079803.2	NP_001073271.1:p.(Thr848=)	NC_000017.10:g.78092054C>T	(Likely) benign	1 lab	5ff215eb72
1:78390900 NEXN G>A	1	78390900	78390900	G	A	NEXN	c.475G>A	NM_144573.3	NP_653174.3:p.(Glu159Lys)	NC_000001.10:g.78390900G>A	VUS	1 lab	5ff3fb2606
10:54031251 PRKG1 TA>T	10	54031251	54031254	TA	T	PRKG1	c.1313+5del	NM_006258.3	NP_006249.1:p.?	NC_000010.10:g.54031254del	(Likely) benign	1 lab	5ff4624e35
11:118037770 SCN2B C>T	11	118037770	118037770	C	T	SCN2B	c.480G>A	NM_004588.5	NP_004579.1:p.(Val160=)	NC_000011.9:g.118037770C>T	(Likely) benign	1 lab	5ff55e32ad
12:52314570 ACVRL1 C>A	12	52314570	52314570	C	A	ACVRL1	c.1405C>A	NM_000020.2	NP_000011.2:p.(Arg469=)	NC_000012.11:g.52314570C>A	VUS	1 lab	093186f45d
6:111498537 SLC16A10 G>A	6	111498537	111498537	G	A	SLC16A10	c.611G>A	NM_018593.4	NP_061063.2:p.(Gly204Asp)	NC_000006.11:g.111498537G>A	VUS	1 lab	5fff2eb023
7:42017186 GLI3 T>C	7	42017186	42017186	T	C	GLI3	c.1783A>G	NM_000168.6	NP_000159.3:p.(Lys595Glu)	NC_000007.13:g.42017186T>C	(Likely) pathogenic	1 lab	5fff2ecedf
11:76867907 MYO7A G>A	11	76867907	76867907	G	A	MYO7A	c.593-1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76867907G>A	(Likely) pathogenic	1 lab	60007624bd
X:49854824 CLCN5 C>T	X	49854824	49854824	C	T	CLCN5	c.1586C>T	NM_000084.5	NP_000075.1:p.(Thr529Ile)	NC_000023.10:g.49854824C>T	(Likely) pathogenic	1 lab	0935d86644
17:41223052 BRCA1 C>T	17	41223052	41223052	C	T	BRCA1				NC_000017.10:g.41223052C>T	(Likely) benign	1 lab	600384cc79
16:31500329 SLC5A2 T>C	16	31500329	31500329	T	C	SLC5A2	c.1409T>C	NM_003041.4	NP_003032.1:p.(Val470Ala)	NC_000016.9:g.31500329T>C	VUS	1 lab	6004ecd639
12:21715989 GYS2 C>T	12	21715989	21715989	C	T	GYS2	c.942-17G>A	NM_021957.4	NP_068776.2:p.?	NC_000012.11:g.21715989C>T	(Likely) benign	1 lab	600577c7b5
5:37198899 CPLANE1 G>A	5	37198899	37198899	G	A	CPLANE1	c.3577C>T	NM_001384732.1	NP_001371661.1:p.(Arg1193Cys)	NC_000005.9:g.37198899G>A	(Likely) pathogenic	1 lab	6005ca72ba
5:112175595 APC G>GAAGTAAAA	5	112175595	112175603	G	GAAGTAAAA	APC	c.4305_4312dup	NM_000038.6	NP_000029.2:p.(Thr1438LysfsTer38)	NC_000005.9:g.112175596_112175603dup	(Likely) pathogenic	1 lab	600a2b5033
17:41244145 BRCA1 G>A	17	41244145	41244145	G	A	BRCA1	c.3403C>T	NM_007294.4	NP_009225.1:p.(Gln1135Ter)	NC_000017.10:g.41244145G>A	(Likely) pathogenic	1 lab	600d061d58
13:32907502 BRCA2 T>TA	13	32907502	32907503	T	TA	BRCA2	c.1888dup	NM_000059.3	NP_000050.2:p.(Thr630AsnfsTer6)	NC_000013.10:g.32907503dup	(Likely) pathogenic	1 lab	600f22afaf
3:122002553 CASR G>A	3	122002553	122002553	G	A	CASR	c.1752G>A	NM_000388.3	NP_000379.2:p.(Lys584=)	NC_000003.11:g.122002553G>A	(Likely) benign	1 lab	6018286556
2:189854862 COL3A1 T>C	2	189854862	189854862	T	C	COL3A1	c.731T>C	NM_000090.3	NP_000081.1:p.(Leu244Ser)	NC_000002.11:g.189854862T>C	(Likely) benign	1 lab	601be27a4d
20:5953752 MCM8 C>T	20	5953752	5953752	C	T	MCM8	c.1305C>T	NM_032485.6	NP_115874.3:p.(Tyr435=)	NC_000020.10:g.5953752C>T	(Likely) benign	1 lab	601ce3fcb7
6:110056447 FIG4 C>T	6	110056447	110056447	C	T	FIG4	c.592C>T	NM_014845.5	NP_055660.1:p.(Gln198Ter)	NC_000006.11:g.110056447C>T	(Likely) pathogenic	1 lab	601d8809c9
10:97602230 ENTPD1 C>T	10	97602230	97602230	C	T	ENTPD1	c.428C>T	NM_001164178.1	NP_001157650.1:p.(Thr143Met)	NC_000010.10:g.97602230C>T	VUS	1 lab	601e2e7965
2:168041098 XIRP2 T>C	2	168041098	168041098	T	C	XIRP2	c.563-26147T>C	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168041098T>C	(Likely) benign	1 lab	601f8fc56d
5:137213242 MYOT T>C	5	137213242	137213242	T	C	MYOT	c.565T>C	NM_006790.2	NP_006781.1:p.(Leu189=)	NC_000005.9:g.137213242T>C	(Likely) benign	1 lab	601feffa58
5:138223306 CTNNA1 G>A	5	138223306	138223306	G	A	CTNNA1	c.1271G>A	NM_001903.3	NP_001894.2:p.(Arg424His)	NC_000005.9:g.138223306G>A	VUS	1 lab	602a4c73b4
17:7125494 ACADVL A>C	17	7125494	7125494	A	C	ACADVL	c.822-2A>C	NM_001270447.1	NP_001257376.1:p.?	NC_000017.10:g.7125494A>C	(Likely) pathogenic	1 lab	602d128545
17:48677114 CACNA1G A>G	17	48677114	48677114	A	G	CACNA1G	c.3584A>G	NM_018896.4	NP_061496.2:p.(Glu1195Gly)	NC_000017.10:g.48677114A>G	VUS	1 lab	602edee793
12:49434944 KMT2D C>T	12	49434944	49434944	C	T	KMT2D	c.6609G>A	NM_003482.4	NP_003473.3:p.(Thr2203=)	NC_000012.11:g.49434944C>T	(Likely) benign	1 lab	60302e6705
17:59543236 TBX4 A>G	17	59543236	59543236	A	G	TBX4	c.338A>G	NM_018488.2	NP_060958.2:p.(Tyr113Cys)	NC_000017.10:g.59543236A>G	(Likely) pathogenic	1 lab	60311eae72
2:227896976 COL4A4 C>T	2	227896976	227896976	C	T	COL4A4	c.3594G>A	NM_000092.4	NP_000083.3:p.(Gly1198=)	NC_000002.11:g.227896976C>T	(Likely) benign	1 lab	6034756444
1:224619392 WDR26 A>T	1	224619392	224619392	A	T	WDR26	c.514T>A	NM_025160.6	NP_079436.4:p.(Trp172Arg)	NC_000001.10:g.224619392A>T	(Likely) pathogenic	1 lab	60367b6df2
7:150646158 KCNH2 A>T	7	150646158	150646158	A	T	KCNH2	c.2399-21T>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150646158A>T	(Likely) benign	1 lab	603851b6b4
3:38518815 ACVR2B C>A	3	38518815	38518815	C	A	ACVR2B	c.90C>A	NM_001106.3	NP_001097.2:p.(Ile30=)	NC_000003.11:g.38518815C>A	(Likely) benign	1 lab	6039125ed7
2:80136924 LOC127273815 G>GT	2	80136924	80136925	G	GT	LOC127273815				NC_000002.11:g.80136925dup	VUS	1 lab	603932d820
X:48542762 WAS G>A	X	48542762	48542762	G	A	WAS	c.223G>A	NM_000377.2	NP_000368.1:p.(Val75Met)	NC_000023.10:g.48542762G>A	(Likely) pathogenic	1 lab	603a8ac36b
16:31496186 SLC5A2 T>G	16	31496186	31496186	T	G	SLC5A2				NC_000016.9:g.31496186T>G	VUS	1 lab	603e54131a
14:35480753 SRP54 G>A	14	35480753	35480753	G	A	SRP54	c.524G>A	NM_003136.4	NP_003127.1:p.(Gly175Glu)	NC_000014.8:g.35480753G>A	(Likely) pathogenic	1 lab	603f3248b7
16:4847497 ROGDI G>A	16	4847497	4847497	G	A	ROGDI	c.828C>T	NM_024589.2	NP_078865.1:p.(Ser276=)	NC_000016.9:g.4847497G>A	(Likely) benign	1 lab	093a591df4
20:57226903 STX16 G>A	20	57226903	57226903	G	A	STX16	n.565G>A	NR_037941.2		NC_000020.10:g.57226903G>A	(Likely) benign	1 lab	093af9bfbd
1:19071356 PAX7 G>A	1	19071356	19071356	G	A	PAX7	c.1451G>A	NM_001135254.1	NP_001128726.1:p.(Arg484His)	NC_000001.10:g.19071356G>A	(Likely) benign	1 lab	60538f12ee
1:207940402 CD46 T>C	1	207940402	207940402	T	C	CD46	c.718T>C	NM_002389.4	NP_002380.3:p.(Ser240Pro)	NC_000001.10:g.207940402T>C	VUS	1 lab	605a32bd31
X:585078 SHOX C>T	X	585078	585078	C	T	SHOX				NC_000023.10:g.585078C>T	(Likely) benign	1 lab	605b035f08
17:7574034 TP53 C>G	17	7574034	7574034	C	G	TP53	c.994-1G>C	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7574034C>G	(Likely) pathogenic	1 lab	605b0db130
12:6128126 VWF C>T	12	6128126	6128126	C	T	VWF	c.4458G>A	NM_000552.3	NP_000543.2:p.(Ser1486=)	NC_000012.11:g.6128126C>T	(Likely) benign	1 lab	605b546156
3:37081703 MLH1 T>C	3	37081703	37081703	T	C	MLH1	c.1585T>C	NM_000249.3	NP_000240.1:p.(Ser529Pro)	NC_000003.11:g.37081703T>C	(Likely) pathogenic	1 lab	605bee8bb6
14:64679558 SYNE2 C>G	14	64679558	64679558	C	G	SYNE2	c.18891C>G	NM_182914.2	NP_878918.2:p.(Thr6297=)	NC_000014.8:g.64679558C>G	(Likely) benign	1 lab	605dd6b32d
2:168099500 XIRP2 G>A	2	168099500	168099500	G	A	XIRP2	c.1598G>A	NM_152381.5	NP_689594.4:p.(Ser533Asn)	NC_000002.11:g.168099500G>A	(Likely) benign	1 lab	60617fb839
3:150690344 CLRN1 CCTG>ATTGGACA	3	150690344	150690347	CCTG	ATTGGACA	CLRN1	c.149_152delinsTGTCCAAT	NM_001195794.1	NP_001182723.1:p.(Ser50LeufsTer12)	NC_000003.11:g.150690344_150690347delinsATTGGACA	(Likely) pathogenic	1 lab	6067d31791
X:53247085 KDM5C G>A	X	53247085	53247085	G	A	KDM5C	c.415C>T	NM_004187.5	NP_004178.2:p.(Gln139Ter)	NC_000023.10:g.53247085G>A	(Likely) pathogenic	1 lab	60697d1b0b
2:27676316 IFT172 C>T	2	27676316	27676316	C	T	IFT172	c.3886G>A	NM_015662.2	NP_056477.1:p.(Val1296Met)	NC_000002.11:g.27676316C>T	VUS	1 lab	60698b9b71
X:152960244 SLC6A8 G>C	X	152960244	152960244	G	C	SLC6A8	c.1667G>C	NM_005629.3	NP_005620.1:p.(Trp556Ser)	NC_000023.10:g.152960244G>C	VUS	1 lab	606afa6d17
13:52518428 ATP7B C>T	13	52518428	52518428	C	T	ATP7B	c.3061-1G>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52518428C>T	(Likely) pathogenic	1 lab	093b44a1ac
12:111357074 MYL2 T>A	12	111357074	111357074	T	A	MYL2	c.4-77A>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111357074T>A	(Likely) benign	1 lab	6072539f7b
2:85768443 MAT2A T>C	2	85768443	85768443	T	C	MAT2A	c.235T>C	NM_005911.5	NP_005902.1:p.(Tyr79His)	NC_000002.11:g.85768443T>C	VUS	1 lab	607305a273
13:100634374 ZIC2 G>A	13	100634374	100634374	G	A	ZIC2	c.56G>A	NM_007129.5	NP_009060.2:p.(Arg19His)	NC_000013.10:g.100634374G>A	(Likely) benign	1 lab	6074a73bac
4:187201271 F11 C>T	4	187201271	187201271	C	T	F11	c.861C>T	NM_000128.3	NP_000119.1:p.(Ile287=)	NC_000004.11:g.187201271C>T	(Likely) benign	1 lab	6076a59acd
5:112178812 APC C>T	5	112178812	112178812	C	T	APC	c.7521C>T	NM_000038.6	NP_000029.2:p.(Leu2507=)	NC_000005.9:g.112178812C>T	(Likely) benign	1 lab	607fc81b00
6:43019395 CUL7 C>T	6	43019395	43019395	C	T	CUL7	c.687G>A	NM_014780.4	NP_055595.2:p.(Thr229=)	NC_000006.11:g.43019395C>T	(Likely) benign	1 lab	607fe528a3
22:36684331 MYH9 C>T	22	36684331	36684331	C	T	MYH9	c.4899G>A	NM_002473.4	NP_002464.1:p.(Arg1633=)	NC_000022.10:g.36684331C>T	(Likely) benign	1 lab	60801514ea
11:108216549 ATM A>G	11	108216549	108216549	A	G	ATM	c.8498A>G	NM_000051.4	NP_000042.3:p.(Tyr2833Cys)	NC_000011.9:g.108216549A>G	VUS	1 lab	6081d8592e
1:6512095 ESPN G>A	1	6512095	6512095	G	A	ESPN	c.2264G>A	NM_031475.2	NP_113663.2:p.(Arg755His)	NC_000001.10:g.6512095G>A	VUS	1 lab	60837a41fd
13:32889622 BRCA2 G>A	13	32889622	32889622	G	A	BRCA2	c.-222G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889622G>A	(Likely) benign	1 lab	6088e19c15
12:52188317 SCN8A A>G	12	52188317	52188317	A	G	SCN8A	c.4687A>G	NM_001330260.2	NP_001317189.1:p.(Ile1563Val)	NC_000012.11:g.52188317A>G	(Likely) benign	1 lab	608dca9a0c
6:7542232 DSP C>T	6	7542232	7542232	C	T	DSP	c.84C>T	NM_004415.2	NP_004406.2:p.(Tyr28=)	NC_000006.11:g.7542232C>T	(Likely) benign	1 lab	608e2e51af
1:147380249 GJA8 C>T	1	147380249	147380249	C	T	GJA8	c.167C>T	NM_005267.4	NP_005258.2:p.(Thr56Ile)	NC_000001.10:g.147380249C>T	VUS	1 lab	60948d4e18
13:111158824 COL4A2 G>A	13	111158824	111158824	G	A	COL4A2				NC_000013.10:g.111158824G>A	VUS	1 lab	61b8f15081
6:30691708 TUBB C>T	6	30691708	30691708	C	T	TUBB	c.869C>T	NM_178014.4	NP_821133.1:p.(Thr290Ile)	NC_000006.11:g.30691708C>T	(Likely) pathogenic	1 lab	6095198969
13:101944625 MISSING A>T	13	101944625	101944625	A	T	MISSING				NC_000013.10:g.101944625A>T	VUS	1 lab	60974da36c
10:89653686 PTEN A>G	10	89653686	89653686	A	G	PTEN	c.80-96A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89653686A>G	(Likely) benign	1 lab	60997a2e7b
12:109915929 UBE3B C>G	12	109915929	109915929	C	G	UBE3B				NC_000012.11:g.109915929C>G	(Likely) benign	1 lab	609e01e2df
3:151085514 MED12L C>T	3	151085514	151085514	C	T	MED12L	c.3408C>T	NM_001393769.1	NP_001380698.1:p.(Asp1136=)	NC_000003.11:g.151085514C>T	(Likely) benign	1 lab	609e06de0d
X:64138936 ZC4H2 G>T	X	64138936	64138936	G	T	ZC4H2	c.547C>A	NM_018684.4	NP_061154.1:p.(Pro183Thr)	NC_000023.10:g.64138936G>T	VUS	1 lab	609e9e0bba
5:171785892 SH3PXD2B A>G	5	171785892	171785892	A	G	SH3PXD2B				NC_000005.9:g.171785892A>G	(Likely) benign	1 lab	60a125e857
18:48603032 SMAD4 C>T	18	48603032	48603032	C	T	SMAD4	c.1333C>T	NM_005359.5	NP_005350.1:p.(Arg445Ter)	NC_000018.9:g.48603032C>T	(Likely) pathogenic	1 lab	60a19ee7f4
16:88709968 CYBA A>G	16	88709968	88709968	A	G	CYBA	c.381T>C	NM_000101.4	NP_000092.2:p.(Arg127=)	NC_000016.9:g.88709968A>G	(Likely) benign	1 lab	60a3336296
2:74592702 DCTN1 C>T	2	74592702	74592702	C	T	DCTN1	c.2969G>A	NM_004082.4	NP_004073.2:p.(Arg990His)	NC_000002.11:g.74592702C>T	VUS	1 lab	60a4e9014c
14:64421533 SYNE2 C>G	14	64421533	64421533	C	G	SYNE2	c.687C>G	NM_182914.2	NP_878918.2:p.(Asp229Glu)	NC_000014.8:g.64421533C>G	(Likely) benign	1 lab	60a53094a8
12:80900348 MISSING T>G	12	80900348	80900348	T	G	MISSING				NC_000012.11:g.80900348T>G	(Likely) benign	1 lab	60a5859147
5:14507265 TRIO C>T	5	14507265	14507265	C	T	TRIO	c.8647C>T	NM_007118.4	NP_009049.2:p.(Arg2883Ter)	NC_000005.9:g.14507265C>T	(Likely) pathogenic	1 lab	60a9a8d76b
12:6173433 VWF C>T	12	6173433	6173433	C	T	VWF	c.1411G>A	NM_000552.3	NP_000543.2:p.(Val471Ile)	NC_000012.11:g.6173433C>T	(Likely) benign	1 lab	60aedd096b
X:119387916 ZBTB33 C>T	X	119387916	119387916	C	T	ZBTB33				NC_000023.10:g.119387916C>T	VUS	1 lab	60b1416b58
2:159481546 PKP4 C>T	2	159481546	159481546	C	T	PKP4	c.760C>T	NM_003628.4	NP_003619.2:p.(Arg254Ter)	NC_000002.11:g.159481546C>T	VUS	1 lab	60b3a012a7
2:228176574 COL4A3 GAAAAGACACTGAAGCTAA>G	2	228176574	228176600	GAAAAGACACTGAAGCTAA	G	COL4A3	c.5010_*14del	NM_000091.5	NP_000082.2:p.(His1670delinsGlnGlnAsnCysTyrPheSerSer)	NC_000002.11:g.228176583_228176600del	(Likely) pathogenic	1 lab	60b5064dc3
2:152396904 NEB G>GT	2	152396904	152396905	G	GT	NEB	c.15742dup	NM_004543.4	NP_004534.2:p.(Thr5248AsnfsTer16)	NC_000002.11:g.152396905dup	(Likely) pathogenic	1 lab	60b6ac58c1
9:129377824 LMX1B T>G	9	129377824	129377824	T	G	LMX1B	c.302T>G	NM_002316.3	NP_002307.2:p.(Leu101Arg)	NC_000009.11:g.129377824T>G	VUS	1 lab	60b6d0c811
2:162565341 SLC4A10 T>C	2	162565341	162565341	T	C	SLC4A10	c.81+2T>C	NM_001178016.1	NP_001171487.1:p.?	NC_000002.11:g.162565341T>C	VUS	1 lab	60b6e84925
16:89350816 ANKRD11 A>ATC	16	89350816	89350817	A	ATC	ANKRD11	c.2133_2134insGA	NM_013275.6	NP_037407.4:p.(Phe712AspfsTer8)	NC_000016.9:g.89350816_89350817insTC	(Likely) pathogenic	1 lab	60b74af725
10:75877804 VCL T>C	10	75877804	75877804	T	C	VCL	c.3282T>C	NM_014000.2	NP_054706.1:p.(Asn1094=)	NC_000010.10:g.75877804T>C	(Likely) benign	1 lab	60bbcbf27d
13:32913445 BRCA2 T>G	13	32913445	32913445	T	G	BRCA2	c.4953T>G	NM_000059.3	NP_000050.2:p.(Pro1651=)	NC_000013.10:g.32913445T>G	(Likely) benign	1 lab	60bc8d531c
2:127808116 BIN1 C>G	2	127808116	127808116	C	G	BIN1				NC_000002.11:g.127808116C>G	(Likely) benign	1 lab	60bf4bd781
5:90084128 ADGRV1 G>A	5	90084128	90084128	G	A	ADGRV1	c.13893+1G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90084128G>A	(Likely) pathogenic	1 lab	60c28b5f58
11:118376004 KMT2A A>C	11	118376004	118376004	A	C	KMT2A				NC_000011.9:g.118376004A>C	VUS	1 lab	60c35cdab0
13:32907349 BRCA2 T>C	13	32907349	32907349	T	C	BRCA2	c.1734T>C	NM_000059.4	NP_000050.3:p.(Gly578=)	NC_000013.10:g.32907349T>C	(Likely) benign	1 lab	60c3d8ceed
18:19076538 GREB1L TGCCCTGGA>T	18	19076538	19076546	TGCCCTGGA	T	GREB1L	c.3271_3278del	NM_001142966.2	NP_001136438.1:p.(Ala1091ProfsTer13)	NC_000018.9:g.19076539_19076546del	(Likely) pathogenic	1 lab	60c6a6970b
17:62041947 SCN4A C>T	17	62041947	62041947	C	T	SCN4A	c.1333G>A	NM_000334.4	NP_000325.4:p.(Val445Met)	NC_000017.10:g.62041947C>T	(Likely) pathogenic	1 lab	60caef7867
X:46713006 RP2 CTG>C	X	46713006	46713010	CTG	C	RP2	c.201_202del	NM_006915.2	NP_008846.2:p.(Cys67Ter)	NC_000023.10:g.46713009_46713010del	(Likely) pathogenic	1 lab	60cb2768f2
7:6037058 PMS2 A>G	7	6037058	6037058	A	G	PMS2	c.706-4T>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6037058A>G	(Likely) benign	1 lab	800da51d6e
10:95395245 PDE6C C>T	10	95395245	95395245	C	T	PDE6C	c.1270-9C>T	NM_006204.3	NP_006195.3:p.?	NC_000010.10:g.95395245C>T	(Likely) benign	1 lab	60cec7273e
2:227872983 COL4A4 CA>C	2	227872983	227872984	CA	C	COL4A4	c.4559del	NM_000092.4	NP_000083.3:p.(Leu1520ArgfsTer32)	NC_000002.11:g.227872984del	(Likely) pathogenic	1 lab	60dabdd1e9
1:112329716 KCND3 C>T	1	112329716	112329716	C	T	KCND3	c.1119G>A	NM_004980.4	NP_004971.2:p.(Met373Ile)	NC_000001.10:g.112329716C>T	(Likely) pathogenic	1 lab	60daff5a1e
5:149740759 TCOF1 A>C	5	149740759	149740759	A	C	TCOF1	c.149A>C	NM_001135243.1	NP_001128715.1:p.(Tyr50Ser)	NC_000005.9:g.149740759A>C	(Likely) pathogenic	1 lab	60dd5cf166
1:216062060 USH2A C>T	1	216062060	216062060	C	T	USH2A	c.7931G>A	NM_206933.2	NP_996816.2:p.(Trp2644Ter)	NC_000001.10:g.216062060C>T	(Likely) pathogenic	1 lab	60dd6f3068
20:5295063 PROKR2 G>A	20	5295063	5295063	G	A	PROKR2				NC_000020.10:g.5295063G>A	(Likely) benign	1 lab	60e7250f9a
X:107408206 COL4A6 C>T	X	107408206	107408206	C	T	COL4A6	c.3922G>A	NM_001287758.1	NP_001274687.1:p.(Gly1308Arg)	NC_000023.10:g.107408206C>T	VUS	1 lab	60f48dd25f
1:94461717 ABCA4 C>A	1	94461717	94461717	C	A	ABCA4	c.6764G>T	NM_000350.2	NP_000341.2:p.(Ser2255Ile)	NC_000001.10:g.94461717C>A	(Likely) benign	1 lab	60f587fde4
2:234668879 UGT1A6 C>CAT	2	234668879	234668894	C	CAT	UGT1A6	c.862-6787_862-6786dup	NM_001072.4	NP_001063.2:p.?	NC_000002.11:g.234668893_234668894dup	(Likely) pathogenic	1 lab	0946b3f88e
6:64431456 EYS C>T	6	64431456	64431456	C	T	EYS				NC_000006.11:g.64431456C>T	VUS	1 lab	60f76e475c
3:38798496 SCN10A T>C	3	38798496	38798496	T	C	SCN10A	c.1092+13A>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38798496T>C	(Likely) benign	1 lab	60fa2e2bb6
1:94577010 ABCA4 T>G	1	94577010	94577010	T	G	ABCA4	c.286A>C	NM_000350.2	NP_000341.2:p.(Asn96His)	NC_000001.10:g.94577010T>G	(Likely) pathogenic	1 lab	60fdc4eafa
1:201332487 TNNT2 C>T	1	201332487	201332487	C	T	TNNT2	c.507G>A	NM_001001430.2	NP_001001430.1:p.(Glu169=)	NC_000001.10:g.201332487C>T	VUS	1 lab	60ff3b1ff3
2:121746950 GLI2 G>A	2	121746950	121746950	G	A	GLI2	c.3460G>A	NM_005270.4	NP_005261.2:p.(Val1154Ile)	NC_000002.11:g.121746950G>A	(Likely) benign	1 lab	6100a09561
3:193360557 OPA1 ACT>A	3	193360557	193360561	ACT	A	OPA1	c.1156_1157del	NM_130837.3	NP_570850.2:p.(Leu386GlufsTer2)	NC_000003.11:g.193360560_193360561del	(Likely) pathogenic	1 lab	6103dcdb04
2:48032832 MSH6 T>C	2	48032832	48032832	T	C	MSH6	c.3632T>C	NM_000179.2	NP_000170.1:p.(Leu1211Pro)	NC_000002.11:g.48032832T>C	(Likely) pathogenic	1 lab	6108da160d
X:32834721 DMD G>A	X	32834721	32834721	G	A	DMD	c.394C>T	NM_004006.2	NP_003997.1:p.(Gln132Ter)	NC_000023.10:g.32834721G>A	(Likely) pathogenic	1 lab	6108f159c0
11:111706902 ALG9 C>T	11	111706902	111706902	C	T	ALG9	c.1075G>A	NM_001077691.1	NP_001071159.1:p.(Glu359Lys)	NC_000011.9:g.111706902C>T	VUS	1 lab	610cad73a4
1:46658581 POMGNT1 T>A	1	46658581	46658581	T	A	POMGNT1	c.1202A>T	NM_017739.3	NP_060209.3:p.(Asp401Val)	NC_000001.10:g.46658581T>A	(Likely) pathogenic	1 lab	610e363c87
17:7592560 WRAP53 C>T	17	7592560	7592560	C	T	WRAP53	c.450C>T	NM_018081.2	NP_060551.2:p.(Phe150=)	NC_000017.10:g.7592560C>T	(Likely) benign	1 lab	611c6621bb
2:179628978 TTN A>G	2	179628978	179628978	A	G	TTN	c.10040T>C	NM_001267550.2	NP_001254479.2:p.(Ile3347Thr)	NC_000002.11:g.179628978A>G	(Likely) benign	1 lab	6125b7e025
1:94493853 ABCA4 C>G	1	94493853	94493853	C	G	ABCA4	c.4539+1148G>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94493853C>G	(Likely) benign	1 lab	61274d2c09
1:247587800 NLRP3 C>T	1	247587800	247587800	C	T	NLRP3	c.1049C>T	NM_001243133.2	NP_001230062.1:p.(Pro350Leu)	NC_000001.10:g.247587800C>T	VUS	1 lab	094bb0eba5
2:179407660 TTN A>G	2	179407660	179407660	A	G	TTN	c.96921T>C	NM_001267550.2	NP_001254479.2:p.(Asp32307=)	NC_000002.11:g.179407660A>G	(Likely) benign	1 lab	61309c9265
2:179438862 TTN C>T	2	179438862	179438862	C	T	TTN	c.71997G>A	NM_001267550.2	NP_001254479.2:p.(Val23999=)	NC_000002.11:g.179438862C>T	(Likely) benign	1 lab	613101699b
12:104067740 STAB2 C>A	12	104067740	104067740	C	A	STAB2	c.2427C>A	NM_017564.10	NP_060034.9:p.(Cys809Ter)	NC_000012.11:g.104067740C>A	VUS	1 lab	6131049858
2:121748219 GLI2 G>A	2	121748219	121748219	G	A	GLI2	c.4729G>A	NM_005270.4	NP_005261.2:p.(Glu1577Lys)	NC_000002.11:g.121748219G>A	VUS	1 lab	61340e2166
9:2123746 SMARCA2 G>A	9	2123746	2123746	G	A	SMARCA2	c.3790G>A	NM_001289396.1	NP_001276325.1:p.(Asp1264Asn)	NC_000009.11:g.2123746G>A	VUS	1 lab	61370a1cad
7:91632302 AKAP9 T>G	7	91632302	91632302	T	G	AKAP9	c.3071T>G	NM_005751.4	NP_005742.4:p.(Val1024Gly)	NC_000007.13:g.91632302T>G	(Likely) benign	1 lab	613a258832
9:35685654 TPM2 C>T	9	35685654	35685654	C	T	TPM2	c.364G>A	NM_003289.4	NP_003280.2:p.(Glu122Lys)	NC_000009.11:g.35685654C>T	(Likely) pathogenic	1 lab	613b408cf5
2:47705467 MSH2 C>CAGAA	2	47705467	47705468	C	CAGAA	MSH2	c.2267_2268insAGAA	NM_000251.3	NP_000242.1:p.(Tyr757GlufsTer31)	NC_000002.11:g.47705467_47705468insAGAA	(Likely) pathogenic	1 lab	613cec980e
12:89743065 DUSP6 T>A	12	89743065	89743065	T	A	DUSP6	c.1112A>T	NM_001946.2	NP_001937.2:p.(Asn371Ile)	NC_000012.11:g.89743065T>A	(Likely) benign	1 lab	6140a1d150
3:37053332 MLH1 CATTAGTT>C	3	37053332	37053339	CATTAGTT	C	MLH1	c.568_574del	NM_000249.3	NP_000240.1:p.(Ile190SerfsTer10)	NC_000003.11:g.37053333_37053339del	(Likely) pathogenic	1 lab	6142e0e0d0
X:153128254 L1CAM C>T	X	153128254	153128254	C	T	L1CAM	c.3638G>A	NM_001278116.2	NP_001265045.1:p.(Gly1213Asp)	NC_000023.10:g.153128254C>T	(Likely) benign	1 lab	6143bfbfaf
3:100963370 IMPG2 C>A	3	100963370	100963370	C	A	IMPG2	c.1805G>T	NM_016247.3	NP_057331.2:p.(Gly602Val)	NC_000003.11:g.100963370C>A	VUS	1 lab	614458d596
1:94564499 ABCA4 C>T	1	94564499	94564499	C	T	ABCA4	c.619G>A	NM_000350.3	NP_000341.2:p.(Glu207Lys)	NC_000001.10:g.94564499C>T	VUS	1 lab	614601403b
6:132203613 ENPP1 A>G	6	132203613	132203613	A	G	ENPP1	c.2229A>G	NM_006208.2	NP_006199.2:p.(Pro743=)	NC_000006.11:g.132203613A>G	(Likely) benign	1 lab	6147f47cac
2:227877037 COL4A4 G>A	2	227877037	227877037	G	A	COL4A4	c.4217-24C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227877037G>A	(Likely) benign	1 lab	61492e0ab9
15:79058391 ADAMTS7 C>T	15	79058391	79058391	C	T	ADAMTS7	c.3862G>A	NM_014272.5	NP_055087.2:p.(Gly1288Arg)	NC_000015.9:g.79058391C>T	(Likely) benign	1 lab	095582f560
3:33093448 GLB1 G>A	3	33093448	33093448	G	A	GLB1	c.841C>T	NM_000404.2	NP_000395.2:p.(His281Tyr)	NC_000003.11:g.33093448G>A	(Likely) pathogenic	1 lab	614bc9d26e
19:42791757 CIC C>T	19	42791757	42791757	C	T	CIC				NC_000019.9:g.42791757C>T	VUS	1 lab	614d48c533
X:17705905 NHS C>A	X	17705905	17705905	C	A	NHS	c.609C>A	NM_198270.3	NP_938011.1:p.(Tyr203Ter)	NC_000023.10:g.17705905C>A	(Likely) pathogenic	1 lab	614dbcb1d6
2:165948842 SCN3A G>C	2	165948842	165948842	G	C	SCN3A	c.4729C>G	NM_006922.4	NP_008853.3:p.(Leu1577Val)	NC_000002.11:g.165948842G>C	VUS	1 lab	615122bbfc
2:44073403 ABCG8 G>C	2	44073403	44073403	G	C	ABCG8	c.275G>C	NM_022437.3	NP_071882.1:p.(Ser92Thr)	NC_000002.11:g.44073403G>C	VUS	1 lab	1ebcfe51b6
8:106811025 ZFPM2 C>T	8	106811025	106811025	C	T	ZFPM2	c.813C>T	NM_012082.3	NP_036214.2:p.(Tyr271=)	NC_000008.10:g.106811025C>T	(Likely) benign	1 lab	6152d2359e
16:20359931 UMOD A>G	16	20359931	20359931	A	G	UMOD	c.692T>C	NM_003361.2	NP_003352.2:p.(Leu231Pro)	NC_000016.9:g.20359931A>G	VUS	1 lab	615350a050
10:26414513 MYO3A T>G	10	26414513	26414513	T	G	MYO3A	c.2090T>G	NM_017433.4	NP_059129.3:p.(Leu697Trp)	NC_000010.10:g.26414513T>G	(Likely) pathogenic	1 lab	615383754a
12:52145161 SCN8A G>T	12	52145161	52145161	G	T	SCN8A	c.2154G>T	NM_014191.4	NP_055006.1:p.(Lys718Asn)	NC_000012.11:g.52145161G>T	VUS	1 lab	6157985eaf
X:38144903 RPGR C>CTTTCCCATTTCCCTGTGTGTTAGTAACTGACTTT	X	38144903	38144940	C	CTTTCCCATTTCCCTGTGTGTTAGTAACTGACTTT	RPGR	c.3315_3348dup	NM_001034853.1	NP_001030025.1:p.(Glu1117LysfsTer5)	NC_000023.10:g.38144907_38144940dup	(Likely) pathogenic	1 lab	615839297c
2:238277800 COL6A3 C>G	2	238277800	238277800	C	G	COL6A3				NC_000002.11:g.238277800C>G	VUS	1 lab	61599f91c3
3:37089102 MLH1 T>G	3	37089102	37089102	T	G	MLH1	c.1824T>G	NM_000249.3	NP_000240.1:p.(Ala608=)	NC_000003.11:g.37089102T>G	(Likely) benign	1 lab	615c3dff5c
9:129453194 LMX1B T>C	9	129453194	129453194	T	C	LMX1B	c.406T>C	NM_002316.3	NP_002307.2:p.(Tyr136His)	NC_000009.11:g.129453194T>C	(Likely) pathogenic	1 lab	615cc843b8
16:20362115 UMOD C>T	16	20362115	20362115	C	T	UMOD	c.-56G>A	NM_003361.2	NP_003352.2:p.?	NC_000016.9:g.20362115C>T	(Likely) benign	1 lab	615d40ac94
X:7175398 STS C>T	X	7175398	7175398	C	T	STS	c.268C>T	NM_000351.4	NP_000342.2:p.(Arg90Ter)	NC_000023.10:g.7175398C>T	(Likely) pathogenic	1 lab	615df53010
1:216592035 USH2A C>T	1	216592035	216592035	C	T	USH2A	c.486-14G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216592035C>T	(Likely) pathogenic	1 lab	61632209f4
2:49190560 FSHR C>A	2	49190560	49190560	C	A	FSHR	c.1400G>T	NM_000145.4	NP_000136.2:p.(Arg467Ile)	NC_000002.11:g.49190560C>A	(Likely) pathogenic	1 lab	6164f766fe
2:131356557 CFC1 G>A	2	131356557	131356557	G	A	CFC1	c.24-25C>T	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131356557G>A	(Likely) benign	1 lab	616cb2ca70
12:6560055 CD27 T>C	12	6560055	6560055	T	C	CD27	c.539-6T>C	NM_001242.4	NP_001233.1:p.?	NC_000012.11:g.6560055T>C	(Likely) benign	1 lab	0959c51f22
11:119170480 CBL G>A	11	119170480	119170480	G	A	CBL				NC_000011.9:g.119170480G>A	(Likely) benign	1 lab	617647c3bc
17:33445650 RAD51D C>T	17	33445650	33445650	C	T	RAD51D	c.145-12G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445650C>T	(Likely) benign	1 lab	617bddee32
19:11216141 LDLR C>A	19	11216141	11216141	C	A	LDLR	c.559C>A	NM_000527.5	NP_000518.1:p.(Leu187Ile)	NC_000019.9:g.11216141C>A	VUS	1 lab	136752758e
6:10398865 TFAP2A T>C	6	10398865	10398865	T	C	TFAP2A	c.1105A>G	NM_001372066.1	NP_001358995.1:p.(Ile369Val)	NC_000006.11:g.10398865T>C	(Likely) benign	1 lab	617c6ac730
16:29826365 PRRT2 G>T	16	29826365	29826365	G	T	PRRT2	c.*406G>T	NM_145239.2	NP_660282.2:p.?	NC_000016.9:g.29826365G>T	(Likely) benign	1 lab	617cf6c822
18:55268909 NARS1 C>T	18	55268909	55268909	C	T	NARS1	c.1622G>A	NM_004539.4	NP_004530.1:p.(Arg541Gln)	NC_000018.9:g.55268909C>T	VUS	1 lab	6188dac557
1:160160806 CASQ1 G>A	1	160160806	160160806	G	A	CASQ1	c.265G>A	NM_001231.5	NP_001222.3:p.(Glu89Lys)	NC_000001.10:g.160160806G>A	VUS	1 lab	6189632a79
2:20205934 MATN3 G>A	2	20205934	20205934	G	A	MATN3	c.361C>T	NM_002381.4	NP_002372.1:p.(Arg121Trp)	NC_000002.11:g.20205934G>A	(Likely) pathogenic	1 lab	618ea65afd
4:114213551 ANK2 C>T	4	114213551	114213551	C	T	ANK2	c.2278-21C>T	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114213551C>T	(Likely) benign	1 lab	095b45c3c6
17:59858343 BRIP1 G>T	17	59858343	59858343	G	T	BRIP1	c.1652C>A	NM_032043.3	NP_114432.2:p.(Ala551Glu)	NC_000017.10:g.59858343G>T	VUS	1 lab	619089bcda
7:81667465 CACNA2D1 C>T	7	81667465	81667465	C	T	CACNA2D1	c.966G>A	NM_000722.3	NP_000713.2:p.(Val322=)	NC_000007.13:g.81667465C>T	(Likely) benign	1 lab	6191b90d46
7:128482258 FLNC T>C	7	128482258	128482258	T	C	FLNC	c.2122-27T>C	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128482258T>C	(Likely) benign	1 lab	6193417d53
2:179640141 TTN C>T	2	179640141	179640141	C	T	TTN	c.6450G>A	NM_001267550.2	NP_001254479.2:p.(Met2150Ile)	NC_000002.11:g.179640141C>T	VUS	1 lab	61937fea94
1:161137907 PPOX T>C	1	161137907	161137907	T	C	PPOX	c.461T>C	NM_000309.4	NP_000300.1:p.(Leu154Pro)	NC_000001.10:g.161137907T>C	(Likely) pathogenic	1 lab	61960a19b2
13:20766910 GJB2 C>T	13	20766910	20766910	C	T	GJB2				NC_000013.10:g.20766910C>T	(Likely) benign	1 lab	619e7b6d1d
2:210737641 UNC80 C>T	2	210737641	210737641	C	T	UNC80	c.3793C>T	NM_032504.1	NP_115893.1:p.(Arg1265Ter)	NC_000002.11:g.210737641C>T	VUS	1 lab	61a2fad905
11:85386937 MISSING G>Alt too long to show for this DUP	11	85386937	85746273	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.85386938_85746273dup	VUS	1 lab	139af39095
3:151093859 MED12L A>G	3	151093859	151093859	A	G	MED12L	c.3805A>G	NM_053002.5	NP_443728.3:p.(Thr1269Ala)	NC_000003.11:g.151093859A>G	VUS	1 lab	61a625cf70
2:215593421 BARD1 C>T	2	215593421	215593421	C	T	BARD1	c.2313G>A	NM_000465.4	NP_000456.2:p.(Glu771=)	NC_000002.11:g.215593421C>T	(Likely) benign	1 lab	61a62bbfc2
5:92924113 NR2F1 G>C	5	92924113	92924113	G	C	NR2F1	c.954G>C	NM_005654.5	NP_005645.1:p.(Glu318Asp)	NC_000005.9:g.92924113G>C	(Likely) pathogenic	1 lab	61aa7477e7
15:72104198 MISSING T>TGAACCAGGACGGTGAGGCGGGGGC	15	72104198	72104222	T	TGAACCAGGACGGTGAGGCGGGGGC	MISSING				NC_000015.9:g.72104199_72104222dup	VUS	1 lab	61ae477285
7:75684219 MDH2 C>T	7	75684219	75684219	C	T	MDH2	c.138C>T	NM_005918.3	NP_005909.2:p.(Asn46=)	NC_000007.13:g.75684219C>T	(Likely) benign	1 lab	61ae5a0caf
8:106813881 ZFPM2 T>G	8	106813881	106813881	T	G	ZFPM2	c.1571T>G	NM_012082.3	NP_036214.2:p.(Val524Gly)	NC_000008.10:g.106813881T>G	VUS	1 lab	61aef9be2d
X:100653431 GLA G>C	X	100653431	100653431	G	C	GLA	c.926C>G	NM_000169.3	NP_000160.1:p.(Ala309Gly)	NC_000023.10:g.100653431G>C	(Likely) benign	1 lab	61b2313a7e
1:156084841 LMNA C>T	1	156084841	156084841	C	T	LMNA	c.132C>T	NM_170707.3	NP_733821.1:p.(Val44=)	NC_000001.10:g.156084841C>T	(Likely) benign	1 lab	61b4523645
10:73466670 CDH23 C>T	10	73466670	73466670	C	T	CDH23	c.2970C>T	NM_022124.5	NP_071407.4:p.(Asp990=)	NC_000010.10:g.73466670C>T	(Likely) benign	1 lab	61b716f17e
X:144906443 SLITRK2 G>A	X	144906443	144906443	G	A	SLITRK2	c.2500G>A	NM_032539.4	NP_115928.1:p.(Glu834Lys)	NC_000023.10:g.144906443G>A	(Likely) benign	1 lab	61baf924c7
19:35523549 SCN1B C>A	19	35523549	35523549	C	A	SCN1B				NC_000019.9:g.35523549C>A	VUS	1 lab	61bb8f8a86
14:103395499 AMN C>T	14	103395499	103395499	C	T	AMN	c.555C>T	NM_030943.3	NP_112205.2:p.(Ser185=)	NC_000014.8:g.103395499C>T	(Likely) benign	1 lab	095b70c733
3:123441055 MYLK G>A	3	123441055	123441055	G	A	MYLK	c.1724C>T	NM_053025.3	NP_444253.3:p.(Pro575Leu)	NC_000003.11:g.123441055G>A	VUS	1 lab	61bf3c3af3
7:75614202 POR C>CT	7	75614202	75614203	C	CT	POR	c.1175dup	NM_000941.3	NP_000932.3:p.(Ala393GlyfsTer57)	NC_000007.13:g.75614203dup	(Likely) pathogenic	1 lab	61c10315bd
15:75649207 MAN2C1 C>T	15	75649207	75649207	C	T	MAN2C1	c.2584G>A	NM_006715.4	NP_006706.2:p.(Gly862Ser)	NC_000015.9:g.75649207C>T	VUS	1 lab	61c17399ad
6:32714197 HLA-DQA2 A>T	6	32714197	32714197	A	T	HLA-DQA2	c.*20+6A>T	NM_020056.5	NP_064440.1:p.?	NC_000006.11:g.32714197A>T	(Likely) benign	1 lab	139ce394c2
20:3063425 AVP A>G	20	3063425	3063425	A	G	AVP	c.346T>C	NM_000490.4	NP_000481.2:p.(Cys116Arg)	NC_000020.10:g.3063425A>G	(Likely) pathogenic	1 lab	61c498eb4e
22:38379470 SOX10 T>C	22	38379470	38379470	T	C	SOX10	c.322A>G	NM_006941.4	NP_008872.1:p.(Met108Val)	NC_000022.10:g.38379470T>C	(Likely) pathogenic	1 lab	61c52a9d5f
13:28539010 CDX2 C>G	13	28539010	28539010	C	G	CDX2	c.684G>C	NM_001265.6	NP_001256.4:p.(Arg228Ser)	NC_000013.10:g.28539010C>G	VUS	1 lab	61c578ba0f
19:5137324 KDM4B G>C	19	5137324	5137324	G	C	KDM4B	c.2360G>C	NM_015015.2	NP_055830.1:p.(Arg787Pro)	NC_000019.9:g.5137324G>C	VUS	1 lab	61cc4198c5
X:153421851 OPN1LW C>A	X	153421851	153421851	C	A	OPN1LW	c.827C>A	NM_020061.5	NP_064445.2:p.(Ala276Glu)	NC_000023.10:g.153421851C>A	VUS	1 lab	61ccdac72c
X:591150 SHOX A>T	X	591150	591150	A	T	SHOX				NC_000023.10:g.591150A>T	(Likely) benign	1 lab	61cd3f5338
4:110723140 CFI C>G	4	110723140	110723140	C	G	CFI	c.-13G>C	NM_000204.4	NP_000195.2:p.?	NC_000004.11:g.110723140C>G	(Likely) benign	1 lab	61cfc7a65e
X:79999566 BRWD3 G>T	X	79999566	79999566	G	T	BRWD3	c.778C>A	NM_153252.4	NP_694984.4:p.(Leu260Ile)	NC_000023.10:g.79999566G>T	VUS	1 lab	61d6cdc06c
X:128926732 SASH3 C>T	X	128926732	128926732	C	T	SASH3	c.721C>T	NM_018990.4	NP_061863.1:p.(Arg241Cys)	NC_000023.10:g.128926732C>T	VUS	1 lab	61d88ae3d4
17:54939220 DGKE C>A	17	54939220	54939220	C	A	DGKE	c.1353C>A	NM_003647.2	NP_003638.1:p.(Tyr451Ter)	NC_000017.10:g.54939220C>A	(Likely) pathogenic	1 lab	61d8faaa8c
19:36218074 KMT2B T>A	19	36218074	36218074	T	A	KMT2B	c.4021T>A	NM_014727.3	NP_055542.1:p.(Cys1341Ser)	NC_000019.9:g.36218074T>A	(Likely) pathogenic	1 lab	61dca07e65
14:88401143 GALC G>T	14	88401143	88401143	G	T	GALC	c.1991C>A	NM_000153.4	NP_000144.2:p.(Ala664Asp)	NC_000014.8:g.88401143G>T	VUS	1 lab	61e2ae1b6e
6:75818732 COL12A1 A>G	6	75818732	75818732	A	G	COL12A1	c.8100+2T>C	NM_004370.5	NP_004361.3:p.?	NC_000006.11:g.75818732A>G	(Likely) pathogenic	1 lab	61e38825a0
X:76875998 ATRX G>A	X	76875998	76875998	G	A	ATRX	c.5137C>T	NM_000489.4	NP_000480.3:p.(Pro1713Ser)	NC_000023.10:g.76875998G>A	(Likely) pathogenic	1 lab	61e4410124
14:23902620 MYH7 A>G	14	23902620	23902620	A	G	MYH7	c.201+121T>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23902620A>G	(Likely) benign	1 lab	61e64409a4
3:123471221 MYLK A>T	3	123471221	123471221	A	T	MYLK	c.330T>A	NM_053025.3	NP_444253.3:p.(Asn110Lys)	NC_000003.11:g.123471221A>T	VUS	1 lab	095c1d8568
7:151372533 PRKAG2 T>G	7	151372533	151372533	T	G	PRKAG2	c.657A>C	NM_016203.4	NP_057287.2:p.(Ser219=)	NC_000007.13:g.151372533T>G	(Likely) benign	1 lab	61ebfe8859
2:160284854 BAZ2B T>C	2	160284854	160284854	T	C	BAZ2B	c.2332A>G	NM_013450.4	NP_038478.2:p.(Lys778Glu)	NC_000002.11:g.160284854T>C	VUS	1 lab	61ee6d8fae
16:28606870 SULT1A2 C>T	16	28606870	28606870	C	T	SULT1A2	c.274+1G>A	NM_001054.3	NP_001045.1:p.?	NC_000016.9:g.28606870C>T	VUS	1 lab	61f38a086f
10:104352390 SUFU A>G	10	104352390	104352390	A	G	SUFU	c.506A>G	NM_016169.3	NP_057253.2:p.(Asn169Ser)	NC_000010.10:g.104352390A>G	(Likely) benign	1 lab	61f5784ce8
16:89599063 SPG7 C>T	16	89599063	89599063	C	T	SPG7	c.1324+19C>T	NM_003119.3	NP_003110.1:p.?	NC_000016.9:g.89599063C>T	(Likely) benign	1 lab	61fee2d542
2:47672672 MSH2 A>G	2	47672672	47672672	A	G	MSH2	c.1277-15A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672672A>G	(Likely) benign	1 lab	61ff9b2861
16:2162966 PKD1 T>C	16	2162966	2162966	T	C	PKD1	c.2986-2A>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2162966T>C	(Likely) pathogenic	1 lab	61ffbf4218
5:94803705 SKIC3 A>AG	5	94803705	94803706	A	AG	SKIC3	c.4497-13_4497-12insC	NM_014639.3	NP_055454.1:p.?	NC_000005.9:g.94803705_94803706insG	(Likely) benign	1 lab	095de46d65
13:32913594 BRCA2 A>T	13	32913594	32913594	A	T	BRCA2	c.5102A>T	NM_000059.4	NP_000050.3:p.(Gln1701Leu)	NC_000013.10:g.32913594A>T	VUS	1 lab	6205146fd5
19:3113440 GNA11 A>C	19	3113440	3113440	A	C	GNA11	c.434A>C	NM_002067.4	NP_002058.2:p.(Tyr145Ser)	NC_000019.9:g.3113440A>C	VUS	1 lab	62057fa96c
17:3475405 TRPV1 C>T	17	3475405	3475405	C	T	TRPV1	c.2231+11G>A	NM_018727.5	NP_061197.4:p.?	NC_000017.10:g.3475405C>T	(Likely) benign	1 lab	620b0f0cf1
17:41209065 BRCA1 T>C	17	41209065	41209065	T	C	BRCA1	c.5277+4A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41209065T>C	(Likely) benign	1 lab	620ba69fbd
4:155487129 FGB G>C	4	155487129	155487129	G	C	FGB	c.284G>C	NM_005141.4	NP_005132.2:p.(Cys95Ser)	NC_000004.11:g.155487129G>C	(Likely) pathogenic	1 lab	621079e693
6:76566849 MYO6 G>A	6	76566849	76566849	G	A	MYO6	c.1259G>A	NM_004999.3	NP_004990.3:p.(Arg420His)	NC_000006.11:g.76566849G>A	VUS	1 lab	62114dabc4
1:94526092 ABCA4 C>A	1	94526092	94526092	C	A	ABCA4	c.2160+1G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94526092C>A	(Likely) pathogenic	1 lab	6216707f8f
15:72668080 HEXA C>T	15	72668080	72668080	C	T	HEXA	c.234G>A	NM_000520.4	NP_000511.2:p.(Trp78Ter)	NC_000015.9:g.72668080C>T	(Likely) pathogenic	1 lab	62186ce6ee
12:102164865 GNPTAB T>C	12	102164865	102164865	T	C	GNPTAB	c.842A>G	NM_024312.5	NP_077288.2:p.(Asn281Ser)	NC_000012.11:g.102164865T>C	(Likely) benign	1 lab	095e826d02
6:31934474 SKIC2 A>G	6	31934474	31934474	A	G	SKIC2	c.2203-12A>G	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31934474A>G	(Likely) benign	1 lab	095f7cac8e
2:32379489 SPAST T>C	2	32379489	32379489	T	C	SPAST	c.1775T>C	NM_014946.3	NP_055761.2:p.(Ile592Thr)	NC_000002.11:g.32379489T>C	VUS	1 lab	6226c8b8e3
4:79400377 FRAS1 A>C	4	79400377	79400377	A	C	FRAS1	c.8099-151A>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79400377A>C	(Likely) benign	1 lab	096034ea92
11:108198395 ATM A>G	11	108198395	108198395	A	G	ATM	c.6999A>G	NM_000051.4	NP_000042.3:p.(Thr2333=)	NC_000011.9:g.108198395A>G	(Likely) benign	1 lab	622e633513
16:67470697 HSD11B2 CGCT>C	16	67470697	67470700	CGCT	C	HSD11B2	c.1010_1012del	NM_000196.4	NP_000187.3:p.(Arg337_Tyr338delinsHis)	NC_000016.9:g.67470698_67470700del	(Likely) pathogenic	1 lab	62371aac4e
2:48026240 MSH6 T>G	2	48026240	48026240	T	G	MSH6	c.1118T>G	NM_000179.3	NP_000170.1:p.(Leu373Arg)	NC_000002.11:g.48026240T>G	VUS	1 lab	623f0b7732
6:149719195 TAB2 C>T	6	149719195	149719195	C	T	TAB2	c.1855C>T	NM_015093.4	NP_055908.1:p.(Arg619Ter)	NC_000006.11:g.149719195C>T	(Likely) pathogenic	1 lab	62422af875
2:215851303 ABCA12 A>G	2	215851303	215851303	A	G	ABCA12	c.4126T>C	NM_173076.2	NP_775099.2:p.(Leu1376=)	NC_000002.11:g.215851303A>G	(Likely) benign	1 lab	6244166158
18:42531913 SETBP1 G>A	18	42531913	42531913	G	A	SETBP1	c.2608G>A	NM_015559.2	NP_056374.2:p.(Gly870Ser)	NC_000018.9:g.42531913G>A	(Likely) pathogenic	1 lab	62442984a4
1:5950939 NPHP4 C>T	1	5950939	5950939	C	T	NPHP4	c.2293G>A	NM_015102.5	NP_055917.1:p.(Val765Ile)	NC_000001.10:g.5950939C>T	(Likely) benign	1 lab	096346ed8d
1:237875132 RYR2 T>A	1	237875132	237875132	T	A	RYR2	c.10318T>A	NM_001035.3	NP_001026.2:p.(Ser3440Thr)	NC_000001.10:g.237875132T>A	VUS	1 lab	624730a27b
6:6318921 F13A1 G>GAA	6	6318921	6318935	G	GAA	F13A1	c.-18-8_-18-7dup	NM_000129.3	NP_000120.2:p.?	NC_000006.11:g.6318934_6318935dup	(Likely) benign	1 lab	6248b4795a
3:172163103 GHSR C>T	3	172163103	172163103	C	T	GHSR	c.949G>A	NM_198407.2	NP_940799.1:p.(Ala317Thr)	NC_000003.11:g.172163103C>T	VUS	1 lab	6248ea168d
2:47705445 MSH2 G>T	2	47705445	47705445	G	T	MSH2	c.2245G>T	NM_000251.2	NP_000242.1:p.(Glu749Ter)	NC_000002.11:g.47705445G>T	(Likely) pathogenic	1 lab	624c485a7e
12:133253151 POLE G>T	12	133253151	133253151	G	T	POLE	c.890C>A	NM_006231.4	NP_006222.2:p.(Ser297Tyr)	NC_000012.11:g.133253151G>T	(Likely) pathogenic	1 lab	6252116945
4:79176531 FRAS1 T>A	4	79176531	79176531	T	A	FRAS1	c.603+2T>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79176531T>A	(Likely) pathogenic	1 lab	097075d6c9
2:179462727 TTN G>C	2	179462727	179462727	G	C	TTN	c.57170C>G	NM_001267550.2	NP_001254479.2:p.(Ala19057Gly)	NC_000002.11:g.179462727G>C	(Likely) benign	1 lab	625340eb42
13:32910784 BRCA2 A>C	13	32910784	32910784	A	C	BRCA2	c.2292A>C	NM_000059.4	NP_000050.3:p.(Glu764Asp)	NC_000013.10:g.32910784A>C	(Likely) benign	1 lab	62537894cd
4:187187135 F11 C>G	4	187187135	187187135	C	G	F11	c.-316C>G	NM_000128.3	NP_000119.1:p.?	NC_000004.11:g.187187135C>G	(Likely) benign	1 lab	62537e3b01
1:145507648 RBM8A G>T	1	145507648	145507648	G	T	RBM8A	c.-19G>T	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145507648G>T	(Likely) pathogenic	1 lab	62567ecc59
20:42788852 JPH2 G>A	20	42788852	42788852	G	A	JPH2	c.575C>T	NM_020433.4	NP_065166.2:p.(Ser192Leu)	NC_000020.10:g.42788852G>A	(Likely) benign	1 lab	625c3efe3a
19:49692373 TRPM4 C>G	19	49692373	49692373	C	G	TRPM4	c.2019+25C>G	NM_017636.3	NP_060106.2:p.?	NC_000019.9:g.49692373C>G	(Likely) benign	1 lab	625e3703c2
3:38524838 ACVR2B T>C	3	38524838	38524838	T	C	ACVR2B	c.*15T>C	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38524838T>C	(Likely) benign	1 lab	625e514ae0
2:73680663 MISSING G>A	2	73680663	73680663	G	A	MISSING				NC_000002.11:g.73680663G>A	(Likely) benign	1 lab	62601fb0fe
1:24194748 FUCA1 G>C	1	24194748	24194748	G	C	FUCA1	c.29C>G	NM_000147.4	NP_000138.2:p.(Pro10Arg)	NC_000001.10:g.24194748G>C	(Likely) benign	1 lab	6260e17995
1:16261140 SPEN CAG>C	1	16261140	16261142	CAG	C	SPEN	c.8406_8407del	NM_015001.2	NP_055816.2:p.(Ala2804GlyfsTer8)	NC_000001.10:g.16261141_16261142del	(Likely) pathogenic	1 lab	6268619ac6
17:41226349 BRCA1 T>C	17	41226349	41226349	T	C	BRCA1	c.4674A>G	NM_007294.3	NP_009225.1:p.(Leu1558=)	NC_000017.10:g.41226349T>C	VUS	1 lab	6268c9a53d
19:918642 KISS1R T>G	19	918642	918642	T	G	KISS1R				NC_000019.9:g.918642T>G	VUS	1 lab	626c493aba
13:32907329 BRCA2 G>A	13	32907329	32907329	G	A	BRCA2	c.1714G>A	NM_000059.3	NP_000050.2:p.(Val572Ile)	NC_000013.10:g.32907329G>A	(Likely) benign	1 lab	626c62b030
17:10542877 MYH3 C>A	17	10542877	10542877	C	A	MYH3	c.2925G>T	NM_002470.3	NP_002461.2:p.(Lys975Asn)	NC_000017.10:g.10542877C>A	VUS	1 lab	626efdf469
1:228487694 OBSCN G>A	1	228487694	228487694	G	A	OBSCN	c.13586G>A	NM_001271223.2	NP_001258152.2:p.(Gly4529Glu)	NC_000001.10:g.228487694G>A	(Likely) benign	1 lab	62747ac937
16:75589757 TMEM231 G>A	16	75589757	75589757	G	A	TMEM231	c.413C>T	NM_001077416.2	NP_001070884.2:p.(Thr138Met)	NC_000016.9:g.75589757G>A	VUS	1 lab	62764ec8c2
4:159601736 ETFDH G>A	4	159601736	159601736	G	A	ETFDH	c.152G>A	NM_004453.4	NP_004444.2:p.(Arg51Gln)	NC_000004.11:g.159601736G>A	(Likely) pathogenic	1 lab	62793a7089
8:75272538 GDAP1 G>T	8	75272538	75272538	G	T	GDAP1	c.477G>T	NM_018972.4	NP_061845.2:p.(Arg159Ser)	NC_000008.10:g.75272538G>T	VUS	1 lab	627bf5a7db
2:47710002 MSH2 A>T	2	47710002	47710002	A	T	MSH2	c.2719A>T	NM_000251.3	NP_000242.1:p.(Lys907Ter)	NC_000002.11:g.47710002A>T	VUS	1 lab	627c23da70
15:89414756 ACAN C>T	15	89414756	89414756	C	T	ACAN	c.7090C>T	NM_013227.3	NP_037359.3:p.(Gln2364Ter)	NC_000015.9:g.89414756C>T	(Likely) pathogenic	1 lab	627c4d4743
17:26851539 FOXN1 TG>T	17	26851539	26851540	TG	T	FOXN1	c.143del	NM_003593.2	NP_003584.2:p.(Cys48SerfsTer254)	NC_000017.10:g.26851540del	(Likely) pathogenic	1 lab	627f7cd3e6
14:24731032 TGM1 C>T	14	24731032	24731032	C	T	TGM1	c.377G>A	NM_000359.3	NP_000350.1:p.(Arg126His)	NC_000014.8:g.24731032C>T	(Likely) pathogenic	1 lab	6285d12aff
15:72645470 HEXA C>T	15	72645470	72645470	C	T	HEXA	c.509G>A	NM_000520.6	NP_000511.2:p.(Arg170Gln)	NC_000015.9:g.72645470C>T	(Likely) pathogenic	1 lab	6287baa508
3:87309047 POU1F1 T>C	3	87309047	87309047	T	C	POU1F1	c.873A>G	NM_000306.4	NP_000297.1:p.(Arg291=)	NC_000003.11:g.87309047T>C	VUS	1 lab	628a957671
22:41922400 ACO2 GCGCAA>G	22	41922400	41922405	GCGCAA	G	ACO2	c.1897_1901del	NM_001098.3	NP_001089.1:p.(Arg633CysfsTer11)	NC_000022.10:g.41922401_41922405del	(Likely) pathogenic	1 lab	628b85bcd2
9:107552954 ABCA1 T>C	9	107552954	107552954	T	C	ABCA1	c.5927+249A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107552954T>C	VUS	1 lab	13b939cfd2
2:179644029 TTN A>T	2	179644029	179644029	A	T	TTN	c.3890T>A	NM_001267550.2	NP_001254479.2:p.(Ile1297Asn)	NC_000002.11:g.179644029A>T	VUS	1 lab	628c63c2a0
17:33445732 RAD51D C>T	17	33445732	33445732	C	T	RAD51D	c.145-94G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445732C>T	(Likely) benign	1 lab	628d5c6750
2:228168714 COL4A3 T>A	2	228168714	228168714	T	A	COL4A3	c.4028-21T>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228168714T>A	(Likely) benign	1 lab	628fa43545
X:122616741 GRIA3 T>C	X	122616741	122616741	T	C	GRIA3	c.2531T>C	NM_007325.4	NP_015564.4:p.(Ile844Thr)	NC_000023.10:g.122616741T>C	(Likely) benign	1 lab	6295e26a7c
16:56553999 BBS2 G>A	16	56553999	56553999	G	A	BBS2				NC_000016.9:g.56553999G>A	(Likely) benign	1 lab	6296f60c5c
8:145626453 CPSF1 T>G	8	145626453	145626453	T	G	CPSF1	c.404A>C	NM_013291.3	NP_037423.2:p.(Asn135Thr)	NC_000008.10:g.145626453T>G	VUS	1 lab	629b2296e9
8:10480468 RP1L1 TGA>T	8	10480468	10480470	TGA	T	RP1L1	c.242_243del	NM_178857.5	NP_849188.4:p.(Val81AspfsTer8)	NC_000008.10:g.10480469_10480470del	(Likely) pathogenic	1 lab	629e728e03
17:61492965 TANC2 A>G	17	61492965	61492965	A	G	TANC2	c.3845A>G	NM_025185.4	NP_079461.2:p.(Asp1282Gly)	NC_000017.10:g.61492965A>G	VUS	1 lab	62a0f97bb5
14:102452396 DYNC1H1 G>A	14	102452396	102452396	G	A	DYNC1H1	c.1834G>A	NM_001376.4	NP_001367.2:p.(Val612Met)	NC_000014.8:g.102452396G>A	(Likely) pathogenic	1 lab	62a101039f
19:50209653 CPT1C C>T	19	50209653	50209653	C	T	CPT1C	c.1326C>T	NM_001199752.2	NP_001186681.1:p.(Ala442=)	NC_000019.9:g.50209653C>T	(Likely) benign	1 lab	62a532eacf
10:89725042 MISSING A>C	10	89725042	89725042	A	C	MISSING				NC_000010.10:g.89725042A>C	(Likely) pathogenic	1 lab	62a82d7567
X:47058496 UBA1 C>T	X	47058496	47058496	C	T	UBA1	c.167C>T	NM_003334.4	NP_003325.2:p.(Ser56Phe)	NC_000023.10:g.47058496C>T	(Likely) pathogenic	1 lab	62ac0caf7a
19:6495282 TUBB4A C>T	19	6495282	6495282	C	T	TUBB4A	c.1228G>A	NM_006087.3	NP_006078.2:p.(Glu410Lys)	NC_000019.9:g.6495282C>T	(Likely) pathogenic	1 lab	62ac87b4ab
5:14508257 TRIO T>C	5	14508257	14508257	T	C	TRIO	c.9020T>C	NM_007118.4	NP_009049.2:p.(Leu3007Ser)	NC_000005.9:g.14508257T>C	VUS	1 lab	62ace1309b
12:133319739 ANKLE2 C>T	12	133319739	133319739	C	T	ANKLE2				NC_000012.11:g.133319739C>T	(Likely) pathogenic	1 lab	62ae4fff6f
7:150648986 KCNH2 G>C	7	150648986	150648986	G	C	KCNH2	c.1558-63C>G	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150648986G>C	(Likely) benign	1 lab	62b186f707
3:52326423 GLYCTK A>T	3	52326423	52326423	A	T	GLYCTK	c.853A>T	NM_145262.4	NP_660305.2:p.(Lys285Ter)	NC_000003.11:g.52326423A>T	(Likely) pathogenic	1 lab	62b3007b71
3:37053574 MLH1 G>T	3	37053574	37053574	G	T	MLH1	c.661G>T	NM_000249.3	NP_000240.1:p.(Gly221Ter)	NC_000003.11:g.37053574G>T	(Likely) pathogenic	1 lab	62b93556c6
20:62612676 PRPF6 C>T	20	62612676	62612676	C	T	PRPF6	c.71+7C>T	NM_012469.3	NP_036601.2:p.?	NC_000020.10:g.62612676C>T	VUS	1 lab	62bddebe06
8:61761597 CHD7 T>C	8	61761597	61761597	T	C	CHD7	c.5301-13T>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61761597T>C	(Likely) benign	1 lab	62c0589950
6:121768610 GJA1 A>G	6	121768610	121768610	A	G	GJA1	c.617A>G	NM_000165.3	NP_000156.1:p.(Lys206Arg)	NC_000006.11:g.121768610A>G	(Likely) pathogenic	1 lab	62c7197731
2:179424321 TTN T>A	2	179424321	179424321	T	A	TTN	c.86538A>T	NM_001267550.2	NP_001254479.2:p.(Pro28846=)	NC_000002.11:g.179424321T>A	(Likely) benign	1 lab	62cdb90612
2:179457670 TTN C>A	2	179457670	179457670	C	A	TTN	c.59176G>T	NM_001267550.2	NP_001254479.2:p.(Glu19726Ter)	NC_000002.11:g.179457670C>A	(Likely) pathogenic	1 lab	62cde56823
20:49508823 ADNP T>TC	20	49508823	49508824	T	TC	ADNP				NC_000020.10:g.49508824dup	(Likely) pathogenic	1 lab	62cea58080
13:23898678 SGCG T>C	13	23898678	23898678	T	C	SGCG	c.874T>C	NM_000231.2	NP_000222.1:p.(Ter292ArgextTer57)	NC_000013.10:g.23898678T>C	(Likely) pathogenic	1 lab	62d6afb2d1
13:32972636 BRCA2 A>G	13	32972636	32972636	A	G	BRCA2	c.9986A>G	NM_000059.3	NP_000050.2:p.(Asn3329Ser)	NC_000013.10:g.32972636A>G	(Likely) benign	1 lab	62e072344c
2:27306131 EMILIN1 G>A	2	27306131	27306131	G	A	EMILIN1	c.1692G>A	NM_007046.3	NP_008977.1:p.(Ala564=)	NC_000002.11:g.27306131G>A	VUS	1 lab	62e3936efa
16:23649379 PALB2 C>T	16	23649379	23649379	C	T	PALB2	c.108+12G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649379C>T	(Likely) benign	1 lab	62e4cdf5b9
14:105415643 AHNAK2 T>C	14	105415643	105415643	T	C	AHNAK2	c.6145A>G	NM_138420.4	NP_612429.2:p.(Thr2049Ala)	NC_000014.8:g.105415643T>C	(Likely) benign	1 lab	62e7d59798
2:167313374 SCN7A A>G	2	167313374	167313374	A	G	SCN7A	c.1290+6T>C	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167313374A>G	(Likely) benign	1 lab	62e88a72f6
11:108126938 ATM T>C	11	108126938	108126938	T	C	ATM	c.2125-4T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108126938T>C	(Likely) benign	1 lab	62e9a3d3df
X:20183039 RPS6KA3 G>A	X	20183039	20183039	G	A	RPS6KA3	c.1742C>T	NM_004586.2	NP_004577.1:p.(Thr581Ile)	NC_000023.10:g.20183039G>A	(Likely) pathogenic	1 lab	62e9b17c3b
M:1494 MISSING C>T	M	1494		C	T	MISSING				NC_012920.1:m.1494C>T	(Likely) pathogenic	1 lab	09716c110b
6:32006864 CYP21A2 C>G	6	32006864	32006864	C	G	CYP21A2	c.293-7C>G	NM_000500.7	NP_000491.4:p.?	NC_000006.11:g.32006864C>G	VUS	1 lab	62eafb1864
1:16375613 CLCNKB A>G	1	16375613	16375613	A	G	CLCNKB	c.656-2A>G	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16375613A>G	(Likely) pathogenic	1 lab	62eb532243
12:98927464 TMPO G>A	12	98927464	98927464	G	A	TMPO	c.1429G>A	NM_003276.2	NP_003267.1:p.(Ala477Thr)	NC_000012.11:g.98927464G>A	(Likely) benign	1 lab	62ecde744b
3:38793949 SCN10A G>T	3	38793949	38793949	G	T	SCN10A	c.1516C>A	NM_006514.3	NP_006505.3:p.(His506Asn)	NC_000003.11:g.38793949G>T	(Likely) benign	1 lab	62ed359d02
16:90002016 TUBB3 C>T	16	90002016	90002016	C	T	TUBB3	c.1157C>T	NM_006086.4	NP_006077.2:p.(Thr386Met)	NC_000016.9:g.90002016C>T	(Likely) pathogenic	1 lab	62ed4ea66b
2:39240646 SOS1 C>T	2	39240646	39240646	C	T	SOS1	c.2122G>A	NM_005633.3	NP_005624.2:p.(Ala708Thr)	NC_000002.11:g.39240646C>T	(Likely) benign	1 lab	0971fea748
10:68381551 CTNNA3 C>T	10	68381551	68381551	C	T	CTNNA3	c.1282-9G>A	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.68381551C>T	(Likely) benign	1 lab	62eedb5409
5:112175951 APC G>T	5	112175951	112175951	G	T	APC	c.4660G>T	NM_000038.5	NP_000029.2:p.(Glu1554Ter)	NC_000005.9:g.112175951G>T	(Likely) pathogenic	1 lab	62f15ef114
2:179408623 TTN T>C	2	179408623	179408623	T	C	TTN	c.96248A>G	NM_001267550.2	NP_001254479.2:p.(Tyr32083Cys)	NC_000002.11:g.179408623T>C	VUS	1 lab	62f23e7e4a
11:118348914 KMT2A C>A	11	118348914	118348914	C	A	KMT2A	c.3567C>A	NM_001197104.1	NP_001184033.1:p.(Cys1189Ter)	NC_000011.9:g.118348914C>A	(Likely) pathogenic	1 lab	62f2fd6fc3
1:17350536 SDHB A>G	1	17350536	17350536	A	G	SDHB	c.574T>C	NM_003000.2	NP_002991.2:p.(Cys192Arg)	NC_000001.10:g.17350536A>G	(Likely) pathogenic	1 lab	62f3e338ce
2:166848875 SCN1A A>T	2	166848875	166848875	A	T	SCN1A	c.4910T>A	NM_001165963.4	NP_001159435.1:p.(Val1637Glu)	NC_000002.11:g.166848875A>T	(Likely) pathogenic	1 lab	62f58c9a01
16:1004655 LMF1 G>A	16	1004655	1004655	G	A	LMF1	c.205C>T	NM_022773.4	NP_073610.2:p.(Leu69=)	NC_000016.9:g.1004655G>A	(Likely) benign	1 lab	13fa794bee
15:67500918 AAGAB G>A	15	67500918	67500918	G	A	AAGAB	c.697C>T	NM_024666.5	NP_078942.3:p.(Gln233Ter)	NC_000015.9:g.67500918G>A	(Likely) pathogenic	1 lab	62fbed3ea6
1:40780022 COL9A2 A>G	1	40780022	40780022	A	G	COL9A2	c.186+2T>C	NM_001852.3	NP_001843.1:p.?	NC_000001.10:g.40780022A>G	(Likely) pathogenic	1 lab	62fc6f9fdf
14:23903053 MYH7 A>G	14	23903053	23903053	A	G	MYH7	c.-8-104T>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23903053A>G	(Likely) benign	1 lab	6305b3e9a2
12:56567478 SMARCC2 A>G	12	56567478	56567478	A	G	SMARCC2				NC_000012.11:g.56567478A>G	VUS	1 lab	630665ef54
X:70367847 NLGN3 G>A	X	70367847	70367847	G	A	NLGN3				NC_000023.10:g.70367847G>A	(Likely) benign	1 lab	63f624c98f
2:73115626 SPR C>T	2	73115626	73115626	C	T	SPR	c.488C>T	NM_003124.5	NP_003115.1:p.(Pro163Leu)	NC_000002.11:g.73115626C>T	(Likely) pathogenic	1 lab	6308d9a449
1:155264283 PKLR C>T	1	155264283	155264283	C	T	PKLR	c.955G>A	NM_000298.6	NP_000289.1:p.(Gly319Ser)	NC_000001.10:g.155264283C>T	(Likely) pathogenic	1 lab	0978595e59
2:45169978 SIX3 CA>C	2	45169978	45169979	CA	C	SIX3	c.736del	NM_005413.3	NP_005404.1:p.(Thr246LeufsTer5)	NC_000002.11:g.45169979del	(Likely) pathogenic	1 lab	6309ff11a3
16:53671625 RPGRIP1L C>A	16	53671625	53671625	C	A	RPGRIP1L	c.3202G>T	NM_015272.3	NP_056087.2:p.(Glu1068Ter)	NC_000016.9:g.53671625C>A	(Likely) pathogenic	1 lab	630a272139
12:6131126 VWF C>T	12	6131126	6131126	C	T	VWF	c.3614G>A	NM_000552.5	NP_000543.3:p.(Arg1205His)	NC_000012.11:g.6131126C>T	(Likely) pathogenic	1 lab	630ac9ecf5
16:89862428 FANCA T>C	16	89862428	89862428	T	C	FANCA	c.894-2A>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89862428T>C	(Likely) pathogenic	1 lab	63126a44c9
9:129455819 LMX1B C>A	9	129455819	129455819	C	A	LMX1B	c.758C>A	NM_002316.3	NP_002307.2:p.(Ala253Glu)	NC_000009.11:g.129455819C>A	(Likely) pathogenic	1 lab	63154374b0
X:18959790 PHKA2 T>C	X	18959790	18959790	T	C	PHKA2	c.721A>G	NM_000292.3	NP_000283.1:p.(Ile241Val)	NC_000023.10:g.18959790T>C	(Likely) pathogenic	1 lab	6317ca5973
13:32890680 BRCA2 A>G	13	32890680	32890680	A	G	BRCA2	c.67+16A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890680A>G	(Likely) benign	1 lab	631aa81e0f
5:137892170 HSPA9 G>A	5	137892170	137892170	G	A	HSPA9	c.1933C>T	NM_004134.6	NP_004125.3:p.(Leu645=)	NC_000005.9:g.137892170G>A	(Likely) benign	1 lab	631c4b3922
9:101911534 TGFBR1 C>T	9	101911534	101911534	C	T	TGFBR1	c.1459C>T	NM_004612.4	NP_004603.1:p.(Arg487Trp)	NC_000009.11:g.101911534C>T	(Likely) pathogenic	1 lab	631d72f229
10:78651362 KCNMA1 G>T	10	78651362	78651362	G	T	KCNMA1	c.3263C>A	NM_001161352.1	NP_001154824.1:p.(Thr1088Asn)	NC_000010.10:g.78651362G>T	VUS	1 lab	6328a02c25
19:39070734 RYR1 C>T	19	39070734	39070734	C	T	RYR1	c.14477C>T	NM_000540.2	NP_000531.2:p.(Thr4826Ile)	NC_000019.9:g.39070734C>T	(Likely) pathogenic	1 lab	63298a426b
11:2417911 CD81 C>T	11	2417911	2417911	C	T	CD81	c.615C>T	NM_004356.3	NP_004347.1:p.(Ile205=)	NC_000011.9:g.2417911C>T	(Likely) benign	1 lab	0979143568
13:32932019 BRCA2 G>T	13	32932019	32932019	G	T	BRCA2	c.7758G>T	NM_000059.3	NP_000050.2:p.(Trp2586Cys)	NC_000013.10:g.32932019G>T	VUS	1 lab	632cf50ab2
12:32949207 PKP2 A>C	12	32949207	32949207	A	C	PKP2	c.2325T>G	NM_004572.3	NP_004563.2:p.(Val775=)	NC_000012.11:g.32949207A>C	(Likely) benign	1 lab	632dc37ba6
2:47672773 MSH2 G>T	2	47672773	47672773	G	T	MSH2	c.1363G>T	NM_000251.2	NP_000242.1:p.(Glu455Ter)	NC_000002.11:g.47672773G>T	(Likely) pathogenic	1 lab	632e046dbe
15:73009192 BBS4 G>A	15	73009192	73009192	G	A	BBS4	c.405+1G>A	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.73009192G>A	(Likely) pathogenic	1 lab	63304a5e24
16:56927296 SLC12A3 C>T	16	56927296	56927296	C	T	SLC12A3	c.2548+330C>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56927296C>T	(Likely) benign	1 lab	6336b4feec
1:247599400 NLRP3 G>GT	1	247599400	247599401	G	GT	NLRP3	c.2628dup	NM_001079821.2	NP_001073289.1:p.(Glu877Ter)	NC_000001.10:g.247599401dup	VUS	1 lab	63388f7203
2:179472549 TTN A>G	2	179472549	179472549	A	G	TTN	c.52965T>C	NM_001267550.2	NP_001254479.2:p.(Pro17655=)	NC_000002.11:g.179472549A>G	(Likely) benign	1 lab	6338d81d85
13:32945129 BRCA2 C>T	13	32945129	32945129	C	T	BRCA2	c.8524C>T	NM_000059.3	NP_000050.2:p.(Arg2842Cys)	NC_000013.10:g.32945129C>T	VUS	1 lab	63397a4848
11:6631689 ILK G>A	11	6631689	6631689	G	A	ILK	c.1210-4G>A	NM_004517.3	NP_004508.1:p.?	NC_000011.9:g.6631689G>A	(Likely) benign	1 lab	633aab1e76
16:89220486 ACSF3 T>C	16	89220486	89220486	T	C	ACSF3	c.1614-12T>C	NM_174917.3	NP_777577.2:p.?	NC_000016.9:g.89220486T>C	(Likely) benign	1 lab	633d3ae7b1
15:94899434 MCTP2 A>G	15	94899434	94899434	A	G	MCTP2	c.1074A>G	NM_001385001.1	NP_001371930.1:p.(Ile358Met)	NC_000015.9:g.94899434A>G	VUS	1 lab	634d79a50c
10:89653809 PTEN G>T	10	89653809	89653809	G	T	PTEN	c.107G>T	NM_000314.8	NP_000305.3:p.(Gly36Val)	NC_000010.10:g.89653809G>T	(Likely) pathogenic	1 lab	634e35b9e6
11:47359028 MYBPC3 C>A	11	47359028	47359028	C	A	MYBPC3	c.2516G>T	NM_000256.3	NP_000247.2:p.(Gly839Val)	NC_000011.9:g.47359028C>A	VUS	1 lab	635226a0d3
X:46359564 ZNF674 T>C	X	46359564	46359564	T	C	ZNF674	c.1460A>G	NM_001039891.2	NP_001034980.1:p.(His487Arg)	NC_000023.10:g.46359564T>C	VUS	1 lab	6352caffee
1:16378331 CLCNKB G>C	1	16378331	16378331	G	C	CLCNKB				NC_000001.10:g.16378331G>C	(Likely) benign	1 lab	653b14d8c9
17:7750741 KDM6B C>CTCCGG	17	7750741	7750746	C	CTCCGG	KDM6B	c.1229_1233dup	NM_001080424.2	NP_001073893.1:p.(Gly412SerfsTer77)	NC_000017.10:g.7750742_7750746dup	(Likely) pathogenic	1 lab	6358a82634
1:237941945 RYR2 G>A	1	237941945	237941945	G	A	RYR2	c.11776-21G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237941945G>A	(Likely) benign	1 lab	0979966a39
12:6140736 VWF G>A	12	6140736	6140736	G	A	VWF	c.2694C>T	NM_000552.3	NP_000543.2:p.(Cys898=)	NC_000012.11:g.6140736G>A	(Likely) benign	1 lab	635fe0046a
14:31346821 COCH G>C	14	31346821	31346821	G	C	COCH	c.126G>C	NM_004086.2	NP_004077.1:p.(Arg42Ser)	NC_000014.8:g.31346821G>C	(Likely) benign	1 lab	6367cb299a
3:48679401 CELSR3 C>A	3	48679401	48679401	C	A	CELSR3	c.8707G>T	NM_001407.2	NP_001398.2:p.(Glu2903Ter)	NC_000003.11:g.48679401C>A	VUS	1 lab	636a9cb4b1
4:186066373 SLC25A4 T>C	4	186066373	186066373	T	C	SLC25A4	c.567T>C	NM_001151.3	NP_001142.2:p.(Ala189=)	NC_000004.11:g.186066373T>C	(Likely) benign	1 lab	636adaf384
8:72234068 EYA1 C>T	8	72234068	72234068	C	T	EYA1				NC_000008.10:g.72234068C>T	(Likely) pathogenic	1 lab	636bb7f0eb
11:66460059 SPTBN2 C>T	11	66460059	66460059	C	T	SPTBN2	c.5138G>A	NM_006946.2	NP_008877.1:p.(Arg1713His)	NC_000011.9:g.66460059C>T	(Likely) benign	1 lab	636e653d92
2:48030581 MSH6 C>T	2	48030581	48030581	C	T	MSH6	c.3195C>T	NM_000179.2	NP_000170.1:p.(Asn1065=)	NC_000002.11:g.48030581C>T	(Likely) benign	1 lab	6371fcf43f
4:73188819 ADAMTS3 C>A	4	73188819	73188819	C	A	ADAMTS3	c.862-5G>T	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73188819C>A	(Likely) benign	1 lab	14e83cb7a7
15:85383152 ALPK3 C>T	15	85383152	85383152	C	T	ALPK3	c.1248C>T	NM_020778.4	NP_065829.3:p.(Arg416=)	NC_000015.9:g.85383152C>T	(Likely) benign	1 lab	63732fa705
7:120496751 TSPAN12 C>T	7	120496751	120496751	C	T	TSPAN12	c.66+1G>A	NM_012338.3	NP_036470.1:p.?	NC_000007.13:g.120496751C>T	(Likely) pathogenic	1 lab	637502a649
5:172660069 NKX2-5 G>A	5	172660069	172660069	G	A	NKX2-5	c.478C>T	NM_004387.4	NP_004378.1:p.(Gln160Ter)	NC_000005.9:g.172660069G>A	(Likely) pathogenic	1 lab	63776b6cd3
18:29178529 TTR A>G	18	29178529	29178529	A	G	TTR	c.337-2A>G	NM_000371.3	NP_000362.1:p.?	NC_000018.9:g.29178529A>G	(Likely) pathogenic	1 lab	097e991d5c
3:122003416 CASR T>G	3	122003416	122003416	T	G	CASR	c.2615T>G	NM_000388.4	NP_000379.3:p.(Val872Gly)	NC_000003.11:g.122003416T>G	VUS	1 lab	6378ecd3bd
4:88959533 PKD2 G>A	4	88959533	88959533	G	A	PKD2	c.974G>A	NM_000297.4	NP_000288.1:p.(Arg325Gln)	NC_000004.11:g.88959533G>A	(Likely) pathogenic	1 lab	09807184fa
X:20213255 RPS6KA3 G>A	X	20213255	20213255	G	A	RPS6KA3	c.334C>T	NM_004586.2	NP_004577.1:p.(Arg112Ter)	NC_000023.10:g.20213255G>A	(Likely) pathogenic	1 lab	637e086bc9
3:123595432 MYLK G>A	3	123595432	123595432	G	A	MYLK	c.-153C>T	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123595432G>A	(Likely) benign	1 lab	638048c956
2:179498704 TTN C>T	2	179498704	179498704	C	T	TTN	c.42522G>A	NM_001267550.2	NP_001254479.2:p.(Trp14174Ter)	NC_000002.11:g.179498704C>T	(Likely) pathogenic	1 lab	63810ff130
3:38671867 SCN5A G>T	3	38671867	38671867	G	T	SCN5A	c.327C>A	NM_000335.5	NP_000326.2:p.(Asn109Lys)	NC_000003.11:g.38671867G>T	VUS	1 lab	6382171269
22:17690409 ADA2 GT>G	22	17690409	17690411	GT	G	ADA2	c.158del	NM_001282225.1	NP_001269154.1:p.(Asn53ThrfsTer12)	NC_000022.10:g.17690411del	(Likely) pathogenic	1 lab	6382dce107
16:3586230 CLUAP1 C>T	16	3586230	3586230	C	T	CLUAP1	c.1201C>T	NM_015041.2	NP_055856.1:p.(Arg401Trp)	NC_000016.9:g.3586230C>T	(Likely) benign	1 lab	638574d2ec
2:179585661 TTN C>A	2	179585661	179585661	C	A	TTN	c.23085G>T	NM_001267550.2	NP_001254479.2:p.(Ala7695=)	NC_000002.11:g.179585661C>A	(Likely) benign	1 lab	6386b4108c
17:44248837 KANSL1 T>C	17	44248837	44248837	T	C	KANSL1				NC_000017.10:g.44248837T>C	(Likely) benign	1 lab	6389486c8b
3:67570954 SUCLG2 G>A	3	67570954	67570954	G	A	SUCLG2	c.522C>T	NM_003848.4	NP_003839.2:p.(Gly174=)	NC_000003.11:g.67570954G>A	(Likely) benign	1 lab	638bce0d2c
6:137519179 IFNGR1 C>A	6	137519179	137519179	C	A	IFNGR1	c.1459G>T	NM_000416.2	NP_000407.1:p.(Glu487Ter)	NC_000006.11:g.137519179C>A	VUS	1 lab	638e3a0607
9:131383591 SPTAN1 G>T	9	131383591	131383591	G	T	SPTAN1	c.5832+56G>T	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131383591G>T	(Likely) benign	1 lab	0983999252
10:86004865 RGR C>T	10	86004865	86004865	C	T	RGR	c.19C>T	NM_002921.3	NP_002912.2:p.(Leu7=)	NC_000010.10:g.86004865C>T	(Likely) benign	1 lab	63907b7de5
12:57957995 KIF5A G>A	12	57957995	57957995	G	A	KIF5A	c.396G>A	NM_004984.2	NP_004975.2:p.(Lys132=)	NC_000012.11:g.57957995G>A	(Likely) pathogenic	1 lab	6390fe883d
4:1807244 FGFR3 GCGC>G	4	1807244	1807257	GCGC	G	FGFR3	c.1535-31_1535-29del	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807255_1807257del	(Likely) benign	1 lab	6395136d9d
18:57134066 CCBE1 G>A	18	57134066	57134066	G	A	CCBE1	c.458C>T	NM_133459.3	NP_597716.1:p.(Thr153Ile)	NC_000018.9:g.57134066G>A	VUS	1 lab	63984ea43b
14:23865967 MYH6 C>A	14	23865967	23865967	C	A	MYH6	c.2228G>T	NM_002471.3	NP_002462.2:p.(Gly743Val)	NC_000014.8:g.23865967C>A	VUS	1 lab	6398a01d81
1:151378889 POGZ G>C	1	151378889	151378889	G	C	POGZ	c.2622C>G	NM_015100.4	NP_055915.2:p.(Tyr874Ter)	NC_000001.10:g.151378889G>C	(Likely) pathogenic	1 lab	639bb0f613
3:38080918 DLEC1 C>T	3	38080918	38080918	C	T	DLEC1	c.202C>T	NM_007337.3	NP_031363.2:p.(Gln68Ter)	NC_000003.11:g.38080918C>T	VUS	1 lab	639c5bfc8b
2:47643522 MSH2 C>T	2	47643522	47643522	C	T	MSH2	c.1030C>T	NM_000251.2	NP_000242.1:p.(Gln344Ter)	NC_000002.11:g.47643522C>T	(Likely) pathogenic	1 lab	639ddb75c2
16:2108745 TSC2 T>G	16	2108745	2108745	T	G	TSC2	c.849-3T>G	NM_000548.4	NP_000539.2:p.?	NC_000016.9:g.2108745T>G	(Likely) pathogenic	1 lab	6582f3ccc3
12:9021159 A2ML1 A>G	12	9021159	9021159	A	G	A2ML1	c.4088A>G	NM_144670.4	NP_653271.2:p.(Asn1363Ser)	NC_000012.11:g.9021159A>G	(Likely) benign	1 lab	639e9b7414
5:149759096 TCOF1 T>C	5	149759096	149759096	T	C	TCOF1	c.2660T>C	NM_001135243.1	NP_001128715.1:p.(Val887Ala)	NC_000005.9:g.149759096T>C	(Likely) benign	1 lab	63a06b32ca
3:135870744 MSL2 A>AT	3	135870744	135870745	A	AT	MSL2	c.978dup	NM_018133.4	NP_060603.2:p.(Ser327IlefsTer14)	NC_000003.11:g.135870745dup	VUS	1 lab	63a487e096
X:14868718 FANCB G>A	X	14868718	14868718	G	A	FANCB	c.1405C>T	NM_001018113.1	NP_001018123.1:p.(Gln469Ter)	NC_000023.10:g.14868718G>A	(Likely) pathogenic	1 lab	63a732e15a
13:32937560 BRCA2 A>T	13	32937560	32937560	A	T	BRCA2	c.8221A>T	NM_000059.3	NP_000050.2:p.(Lys2741Ter)	NC_000013.10:g.32937560A>T	(Likely) pathogenic	1 lab	63a8c88724
19:49146907 MISSING A>Alt too long to show for this DUP	19	49146907	49230813	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.49146909_49230813dup	VUS	1 lab	15b3742d11
2:152584322 NEB C>T	2	152584322	152584322	C	T	NEB	c.177G>A	NM_001271208.1	NP_001258137.1:p.(Gln59=)	NC_000002.11:g.152584322C>T	(Likely) benign	1 lab	098474ad40
5:112151204 APC C>T	5	112151204	112151204	C	T	APC	c.847C>T	NM_000038.5	NP_000029.2:p.(Arg283Ter)	NC_000005.9:g.112151204C>T	(Likely) pathogenic	1 lab	63a9b29cf5
3:38748860 SCN10A G>A	3	38748860	38748860	G	A	SCN10A	c.4296C>T	NM_006514.4	NP_006505.4:p.(Asp1432=)	NC_000003.11:g.38748860G>A	(Likely) benign	1 lab	63ac4e7b9a
12:6184669 VWF G>A	12	6184669	6184669	G	A	VWF	c.706C>T	NM_000552.3	NP_000543.2:p.(Arg236Cys)	NC_000012.11:g.6184669G>A	VUS	1 lab	63aedae39c
4:47938958 CNGA1 A>C	4	47938958	47938958	A	C	CNGA1	c.1553T>G	NM_000087.3	NP_000078.2:p.(Ile518Ser)	NC_000004.11:g.47938958A>C	VUS	1 lab	63b11e74a6
2:32366949 SPAST A>G	2	32366949	32366949	A	G	SPAST	c.1494-24A>G	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32366949A>G	(Likely) pathogenic	1 lab	63b43d74b3
20:42788306 JPH2 T>G	20	42788306	42788306	T	G	JPH2	c.1121A>C	NM_020433.4	NP_065166.2:p.(Gln374Pro)	NC_000020.10:g.42788306T>G	VUS	1 lab	63b4e67661
16:732281 STUB1 G>C	16	732281	732281	G	C	STUB1	c.786G>C	NM_005861.4	NP_005852.2:p.(Gln262His)	NC_000016.9:g.732281G>C	VUS	1 lab	63b5295b4f
5:112162944 APC G>T	5	112162944	112162944	G	T	APC	c.1548G>T	NM_000038.5	NP_000029.2:p.(Lys516Asn)	NC_000005.9:g.112162944G>T	(Likely) pathogenic	1 lab	63b684864b
19:50905985 POLD1 C>T	19	50905985	50905985	C	T	POLD1	c.957C>T	NM_002691.3	NP_002682.2:p.(Cys319=)	NC_000019.9:g.50905985C>T	(Likely) benign	1 lab	63b74ab3bd
5:169129443 DOCK2 A>G	5	169129443	169129443	A	G	DOCK2	c.1383+12A>G	NM_004946.3	NP_004937.1:p.?	NC_000005.9:g.169129443A>G	(Likely) benign	1 lab	3889a715aa
17:29553525 NF1 T>TA	17	29553525	29553526	T	TA	NF1	c.2075dup	NM_000267.3	NP_000258.1:p.(Tyr692Ter)	NC_000017.10:g.29553526dup	(Likely) pathogenic	1 lab	63bb13129a
8:145739583 RECQL4 C>T	8	145739583	145739583	C	T	RECQL4	c.1868G>A	NM_004260.3	NP_004251.3:p.(Arg623His)	NC_000008.10:g.145739583C>T	VUS	1 lab	63bc8055b8
12:111358403 MYL2 A>C	12	111358403	111358403	A	C	MYL2	c.-70T>G	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111358403A>C	(Likely) benign	1 lab	63bd00a2e3
18:48593466 SMAD4 C>T	18	48593466	48593466	C	T	SMAD4	c.1217C>T	NM_005359.6	NP_005350.1:p.(Ala406Val)	NC_000018.9:g.48593466C>T	VUS	1 lab	63be0b65a8
1:169484684 F5 T>A	1	169484684	169484684	T	A	F5	c.6526A>T	NM_000130.4	NP_000121.2:p.(Lys2176Ter)	NC_000001.10:g.169484684T>A	(Likely) pathogenic	1 lab	63bf8c928c
6:7584561 DSP A>T	6	7584561	7584561	A	T	DSP	c.7066A>T	NM_004415.2	NP_004406.2:p.(Lys2356Ter)	NC_000006.11:g.7584561A>T	(Likely) pathogenic	1 lab	63c12e2e26
20:61470085 COL9A3 C>G	20	61470085	61470085	C	G	COL9A3	c.1836C>G	NM_001853.3	NP_001844.3:p.(Asp612Glu)	NC_000020.10:g.61470085C>G	VUS	1 lab	63c199cf5b
11:120916442 TBCEL G>A	11	120916442	120916442	G	A	TBCEL	c.43G>A	NM_152715.3	NP_689928.3:p.(Glu15Lys)	NC_000011.9:g.120916442G>A	VUS	1 lab	63c576999a
6:76640803 IMPG1 G>A	6	76640803	76640803	G	A	IMPG1	c.2110C>T	NM_001563.3	NP_001554.2:p.(Arg704Trp)	NC_000006.11:g.76640803G>A	(Likely) benign	1 lab	63c7cf2cad
20:57484770 GNAS C>G	20	57484770	57484770	C	G	GNAS	c.750C>G	NM_000516.5	NP_000507.1:p.(Ser250Arg)	NC_000020.10:g.57484770C>G	(Likely) pathogenic	1 lab	63c864bb47
12:52183133 SCN8A C>T	12	52183133	52183133	C	T	SCN8A	c.4350C>T	NM_014191.3	NP_055006.1:p.(Phe1450=)	NC_000012.11:g.52183133C>T	(Likely) benign	1 lab	63c986db9f
9:713381 KANK1 C>G	9	713381	713381	C	G	KANK1	c.2615C>G	NM_001256876.1	NP_001243805.1:p.(Ser872Cys)	NC_000009.11:g.713381C>G	VUS	1 lab	63ca716298
16:71660115 MISSING G>C	16	71660115	71660115	G	C	MISSING				NC_000016.9:g.71660115G>C	(Likely) benign	1 lab	63ccf5957a
10:89690805 PTEN G>A	10	89690805	89690805	G	A	PTEN	c.212G>A	NM_000314.4	NP_000305.3:p.(Cys71Tyr)	NC_000010.10:g.89690805G>A	(Likely) pathogenic	1 lab	63ceb98f92
2:9633939 ADAM17 G>A	2	9633939	9633939	G	A	ADAM17	c.1930C>T	NM_003183.4	NP_003174.3:p.(Arg644Ter)	NC_000002.11:g.9633939G>A	(Likely) pathogenic	1 lab	63d335e8c7
15:51829785 DMXL2 G>A	15	51829785	51829785	G	A	DMXL2	c.1517C>T	NM_001174116.3	NP_001167587.1:p.(Pro506Leu)	NC_000015.9:g.51829785G>A	VUS	1 lab	63d3993ba1
2:39278351 SOS1 T>G	2	39278351	39278351	T	G	SOS1	c.798A>C	NM_005633.3	NP_005624.2:p.(Thr266=)	NC_000002.11:g.39278351T>G	(Likely) benign	1 lab	63d54bb0e2
15:85401712 ALPK3 A>G	15	85401712	85401712	A	G	ALPK3	c.4349A>G	NM_020778.4	NP_065829.3:p.(Asp1450Gly)	NC_000015.9:g.85401712A>G	(Likely) benign	1 lab	63d8561ce0
6:152652192 SYNE1 T>C	6	152652192	152652192	T	C	SYNE1				NC_000006.11:g.152652192T>C	VUS	1 lab	668413dcac
2:228118354 COL4A3 G>A	2	228118354	228118354	G	A	COL4A3	c.765G>A	NM_000091.5	NP_000082.2:p.(Thr255=)	NC_000002.11:g.228118354G>A	(Likely) pathogenic	1 lab	63dc375ecb
18:29104204 DSG2 G>A	18	29104204	29104204	G	A	DSG2	c.691-207G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29104204G>A	(Likely) benign	1 lab	63ddfcf8d4
12:52162894 SCN8A C>T	12	52162894	52162894	C	T	SCN8A	c.3147C>T	NM_001330260.2	NP_001317189.1:p.(Thr1049=)	NC_000012.11:g.52162894C>T	(Likely) benign	1 lab	63e189e839
2:197631407 GTF3C3 C>T	2	197631407	197631407	C	T	GTF3C3	c.2420G>A	NM_012086.5	NP_036218.1:p.(Arg807His)	NC_000002.11:g.197631407C>T	VUS	1 lab	63e44e8072
2:179414198 TTN C>G	2	179414198	179414198	C	G	TTN	c.92155G>C	NM_001267550.2	NP_001254479.2:p.(Val30719Leu)	NC_000002.11:g.179414198C>G	(Likely) benign	1 lab	63e7919f93
6:64431518 EYS A>AT	6	64431518	64431521	A	AT	EYS	c.8408dup	NM_001142800.1	NP_001136272.1:p.(Asn2803LysfsTer9)	NC_000006.11:g.64431521dup	(Likely) pathogenic	1 lab	63e7dc1443
16:89348605 ANKRD11 CA>C	16	89348605	89348606	CA	C	ANKRD11	c.4344del	NM_001256182.1	NP_001243111.1:p.(Tyr1448Ter)	NC_000016.9:g.89348606del	(Likely) pathogenic	1 lab	63ebddbe58
2:179467316 TTN A>C	2	179467316	179467316	A	C	TTN	c.54813T>G	NM_001267550.2	NP_001254479.2:p.(Phe18271Leu)	NC_000002.11:g.179467316A>C	(Likely) benign	1 lab	63ef06ca96
X:8553428 ANOS1 C>A	X	8553428	8553428	C	A	ANOS1	c.736G>T	NM_000216.2	NP_000207.2:p.(Glu246Ter)	NC_000023.10:g.8553428C>A	(Likely) pathogenic	1 lab	63f4e29009
16:89347805 ANKRD11 G>C	16	89347805	89347805	G	C	ANKRD11	c.5145C>G	NM_013275.5	NP_037407.4:p.(Tyr1715Ter)	NC_000016.9:g.89347805G>C	(Likely) pathogenic	1 lab	63f6aa4d81
13:52518252 ATP7B C>G	13	52518252	52518252	C	G	ATP7B				NC_000013.10:g.52518252C>G	VUS	1 lab	63f7357181
5:176812798 SLC34A1 G>A	5	176812798	176812798	G	A	SLC34A1	c.56G>A	NM_003052.5	NP_003043.3:p.(Arg19His)	NC_000005.9:g.176812798G>A	VUS	1 lab	63f784220f
1:236850045 ACTN2 G>T	1	236850045	236850045	G	T	ACTN2	c.72G>T	NM_001103.2	NP_001094.1:p.(Glu24Asp)	NC_000001.10:g.236850045G>T	VUS	1 lab	63f7df9eac
17:7806357 CHD3 G>A	17	7806357	7806357	G	A	CHD3	c.3473G>A	NM_001005273.3	NP_001005273.1:p.(Trp1158Ter)	NC_000017.10:g.7806357G>A	VUS	1 lab	63f8953f79
3:100992427 IMPG2 C>A	3	100992427	100992427	C	A	IMPG2	c.826G>T	NM_016247.4	NP_057331.2:p.(Glu276Ter)	NC_000003.11:g.100992427C>A	(Likely) pathogenic	1 lab	64005d6b06
2:179486699 TTN C>G	2	179486699	179486699	C	G	TTN	c.44950G>C	NM_001267550.2	NP_001254479.2:p.(Gly14984Arg)	NC_000002.11:g.179486699C>G	VUS	1 lab	640137ae74
8:61655401 CHD7 A>G	8	61655401	61655401	A	G	CHD7	c.1410A>G	NM_017780.3	NP_060250.2:p.(Glu470=)	NC_000008.10:g.61655401A>G	(Likely) benign	1 lab	6407260754
19:33353357 SLC7A9 C>T	19	33353357	33353357	C	T	SLC7A9	c.604+10G>A	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33353357C>T	(Likely) benign	1 lab	640b06bf87
2:179400585 TTN G>T	2	179400585	179400585	G	T	TTN	c.100766-9C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400585G>T	(Likely) benign	1 lab	640ea5cfb7
8:144991346 PLEC C>T	8	144991346	144991346	C	T	PLEC	c.13054G>A	NM_201380.3	NP_958782.1:p.(Asp4352Asn)	NC_000008.10:g.144991346C>T	VUS	1 lab	64115c3515
X:100629629 BTK A>C	X	100629629	100629629	A	C	BTK	c.142-7T>G	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100629629A>C	VUS	1 lab	81d6664a59
16:55519535 MMP2 G>C	16	55519535	55519535	G	C	MMP2	c.678G>C	NM_004530.4	NP_004521.1:p.(Gly226=)	NC_000016.9:g.55519535G>C	(Likely) benign	1 lab	6415283fd2
12:6127759 VWF C>T	12	6127759	6127759	C	T	VWF	c.4825G>A	NM_000552.3	NP_000543.2:p.(Gly1609Arg)	NC_000012.11:g.6127759C>T	(Likely) pathogenic	1 lab	6416653687
14:61115508 SIX1 TCTC>T	14	61115508	61115513	TCTC	T	SIX1	c.397_399del	NM_005982.3	NP_005973.1:p.(Glu133del)	NC_000014.8:g.61115511_61115513del	(Likely) pathogenic	1 lab	641c0eb582
14:23901906 MYH7 G>T	14	23901906	23901906	G	T	MYH7	c.444C>A	NM_000257.3	NP_000248.2:p.(Ser148Arg)	NC_000014.8:g.23901906G>T	(Likely) benign	1 lab	641c78d2ab
2:234969118 SPP2 G>A	2	234969118	234969118	G	A	SPP2	c.439G>A	NM_006944.2	NP_008875.1:p.(Glu147Lys)	NC_000002.11:g.234969118G>A	(Likely) benign	1 lab	64219201c6
3:71247185 FOXP1 G>C	3	71247185	71247185	G	C	FOXP1	c.215C>G	NM_001012505.1	NP_001012523.1:p.(Pro72Arg)	NC_000003.11:g.71247185G>C	VUS	1 lab	6423a6a4b5
2:228120724 COL4A3 G>A	2	228120724	228120724	G	A	COL4A3	c.889-18G>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228120724G>A	(Likely) benign	1 lab	642618912c
2:32379441 SPAST A>T	2	32379441	32379441	A	T	SPAST				NC_000002.11:g.32379441A>T	(Likely) pathogenic	1 lab	6428a786f0
5:37036492 NIPBL C>T	5	37036492	37036492	C	T	NIPBL	c.5874C>T	NM_133433.3	NP_597677.2:p.(Ser1958=)	NC_000005.9:g.37036492C>T	(Likely) benign	1 lab	642b30a071
17:56787315 RAD51C G>A	17	56787315	56787315	G	A	RAD51C	c.801G>A	NM_058216.3	NP_478123.1:p.(Gln267=)	NC_000017.10:g.56787315G>A	(Likely) benign	1 lab	64303afe3b
1:980906 AGRN G>T	1	980906	980906	G	T	AGRN	c.2536+3G>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.980906G>T	VUS	1 lab	64310407a3
2:47702164 MSH2 GC>G	2	47702164	47702165	GC	G	MSH2	c.1761del	NM_000251.3	NP_000242.1:p.(Tyr588MetfsTer2)	NC_000002.11:g.47702165del	(Likely) pathogenic	1 lab	6432f74414
10:89692900 PTEN G>C	10	89692900	89692900	G	C	PTEN	c.384G>C	NM_000314.8	NP_000305.3:p.(Lys128Asn)	NC_000010.10:g.89692900G>C	(Likely) pathogenic	1 lab	6433d264b3
15:35086849 ACTC1 G>T	15	35086849	35086849	G	T	ACTC1	c.129+32C>A	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35086849G>T	(Likely) benign	1 lab	6438b7bff8
11:118038891 SCN2B C>T	11	118038891	118038891	C	T	SCN2B	c.357G>A	NM_004588.4	NP_004579.1:p.(Pro119=)	NC_000011.9:g.118038891C>T	(Likely) benign	1 lab	643987bdeb
16:79245652 WWOX G>T	16	79245652	79245652	G	T	WWOX	c.1204G>T	NM_016373.4	NP_057457.1:p.(Glu402Ter)	NC_000016.9:g.79245652G>T	(Likely) pathogenic	1 lab	643a382d8e
7:138437536 ATP6V0A4 G>T	7	138437536	138437536	G	T	ATP6V0A4	c.863C>A	NM_020632.2	NP_065683.2:p.(Ala288Asp)	NC_000007.13:g.138437536G>T	VUS	1 lab	643c86b464
11:108126965 ATM C>G	11	108126965	108126965	C	G	ATM	c.2148C>G	NM_000051.4	NP_000042.3:p.(Val716=)	NC_000011.9:g.108126965C>G	(Likely) benign	1 lab	643ca3972a
17:8026407 HES7 C>T	17	8026407	8026407	C	T	HES7	c.80G>A	NM_032580.3	NP_115969.2:p.(Arg27His)	NC_000017.10:g.8026407C>T	VUS	1 lab	64416c94ee
7:91726500 AKAP9 G>A	7	91726500	91726500	G	A	AKAP9	c.10227G>A	NM_005751.4	NP_005742.4:p.(Gln3409=)	NC_000007.13:g.91726500G>A	VUS	1 lab	64440054f3
X:70516729 NONO C>T	X	70516729	70516729	C	T	NONO	c.775C>T	NM_001145408.1	NP_001138880.1:p.(Gln259Ter)	NC_000023.10:g.70516729C>T	(Likely) pathogenic	1 lab	6444fe5691
19:19308954 RFXANK C>A	19	19308954	19308954	C	A	RFXANK	c.477C>A	NM_003721.3	NP_003712.1:p.(Ser159Arg)	NC_000019.9:g.19308954C>A	(Likely) pathogenic	1 lab	644807b70e
11:17450176 ABCC8 C>T	11	17450176	17450176	C	T	ABCC8	c.1859G>A	NM_001287174.1	NP_001274103.1:p.(Arg620His)	NC_000011.9:g.17450176C>T	VUS	1 lab	6449dda3dd
2:32289223 SPAST TGCCGGGCGGCGAG>T	2	32289223	32289240	TGCCGGGCGGCGAG	T	SPAST	c.328_340del	NM_014946.3	NP_055761.2:p.(Gly110SerfsTer47)	NC_000002.11:g.32289228_32289240del	(Likely) pathogenic	1 lab	64519f58a2
10:75874578 VCL G>C	10	75874578	75874578	G	C	VCL	c.3179G>C	NM_014000.2	NP_054706.1:p.(Ser1060Thr)	NC_000010.10:g.75874578G>C	VUS	1 lab	64574a4a4f
14:99641066 BCL11B GGATGAGCGCGGCGGGCGGCAGCTCC>GGATGAGCGCGGCGGGCGGCAGCTCC	14	99641066	99641091	GGATGAGCGCGGCGGGCGGCAGCTCC	GGATGAGCGCGGCGGGCGGCAGCTCC	BCL11B				NC_000014.8:g.99641066_99641091=	(Likely) pathogenic	1 lab	645779a428
X:107868947 COL4A5 AC>A	X	107868947	107868950	AC	A	COL4A5	c.3032del	NM_033380.2	NP_203699.1:p.(Pro1011LeufsTer10)	NC_000023.10:g.107868950del	(Likely) pathogenic	1 lab	645f069b75
8:74600937 STAU2 G>A	8	74600937	74600937	G	A	STAU2	c.226C>T	NM_001164380.1	NP_001157852.1:p.(Pro76Ser)	NC_000008.10:g.74600937G>A	VUS	1 lab	646083c41b
17:79892524 PYCR1 C>T	17	79892524	79892524	C	T	PYCR1	c.714+5G>A	NM_001282281.1	NP_001269210.1:p.?	NC_000017.10:g.79892524C>T	(Likely) pathogenic	1 lab	6462ebcbc5
7:91631742 AKAP9 T>C	7	91631742	91631742	T	C	AKAP9	c.2511T>C	NM_005751.4	NP_005742.4:p.(Ile837=)	NC_000007.13:g.91631742T>C	(Likely) benign	1 lab	6464d2b158
2:131356483 CFC1 T>C	2	131356483	131356483	T	C	CFC1	c.73A>G	NM_032545.3	NP_115934.1:p.(Ser25Gly)	NC_000002.11:g.131356483T>C	VUS	1 lab	6465bb58ce
15:58247449 ALDH1A2 C>T	15	58247449	58247449	C	T	ALDH1A2	c.1503G>A	NM_003888.3	NP_003879.2:p.(Arg501=)	NC_000015.9:g.58247449C>T	(Likely) benign	1 lab	646694a042
16:23640593 PALB2 C>G	16	23640593	23640593	C	G	PALB2	c.2518G>C	NM_024675.4	NP_078951.2:p.(Glu840Gln)	NC_000016.9:g.23640593C>G	VUS	1 lab	6468ba0e30
1:201328760 TNNT2 T>G	1	201328760	201328760	T	G	TNNT2	c.812A>C	NM_001001430.2	NP_001001430.1:p.(Asn271Thr)	NC_000001.10:g.201328760T>G	VUS	1 lab	646bfd30b4
11:108160258 ATM A>G	11	108160258	108160258	A	G	ATM	c.4237-71A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108160258A>G	(Likely) benign	1 lab	646eb46474
17:44144101 KANSL1 A>C	17	44144101	44144101	A	C	KANSL1	c.1653-3T>G	NM_001193465.1	NP_001180394.1:p.?	NC_000017.10:g.44144101A>C	(Likely) pathogenic	1 lab	6472713748
5:137762901 KDM3B T>C	5	137762901	137762901	T	C	KDM3B	c.4526T>C	NM_016604.3	NP_057688.2:p.(Leu1509Pro)	NC_000005.9:g.137762901T>C	VUS	1 lab	6476b84b38
X:149638116 MAMLD1 G>A	X	149638116	149638116	G	A	MAMLD1	c.271G>A	NM_005491.4	NP_005482.2:p.(Val91Ile)	NC_000023.10:g.149638116G>A	VUS	1 lab	6477e460a5
10:88494358 LDB3 A>C	10	88494358	88494358	A	C	LDB3	c.*1625A>C	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88494358A>C	(Likely) benign	1 lab	647c7a9b84
16:2152387 PKD1 A>G	16	2152387	2152387	A	G	PKD1	c.9196T>C	NM_001009944.2	NP_001009944.2:p.(Phe3066Leu)	NC_000016.9:g.2152387A>G	(Likely) benign	1 lab	647d0addfc
12:98940228 TMPO A>AT	12	98940228	98940230	A	AT	TMPO	c.1079+5dup	NM_001032283.2	NP_001027454.1:p.?	NC_000012.11:g.98940230dup	VUS	1 lab	647d3aa1dd
X:21755734 SMPX C>A	X	21755734	21755734	C	A	SMPX				NC_000023.10:g.21755734C>A	(Likely) pathogenic	1 lab	647e6770e9
19:7614946 PNPLA6 C>G	19	7614946	7614946	C	G	PNPLA6	c.1645C>G	NM_006702.4	NP_006693.3:p.(Arg549Gly)	NC_000019.9:g.7614946C>G	VUS	1 lab	647ff93dd3
19:6713291 C3 C>T	19	6713291	6713291	C	T	C3	c.912G>A	NM_000064.3	NP_000055.2:p.(Arg304=)	NC_000019.9:g.6713291C>T	(Likely) benign	1 lab	6480ca6228
6:123759207 TRDN C>A	6	123759207	123759207	C	A	TRDN	c.1051+1G>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123759207C>A	(Likely) pathogenic	1 lab	6483b74c24
2:73491563 FBXO41 A>G	2	73491563	73491563	A	G	FBXO41	c.1649T>C	NM_001080410.2	NP_001073879.2:p.(Ile550Thr)	NC_000002.11:g.73491563A>G	VUS	1 lab	6486f4591c
2:179545827 TTN C>A	2	179545827	179545827	C	A	TTN	c.33319G>T	NM_001267550.2	NP_001254479.2:p.(Val11107Leu)	NC_000002.11:g.179545827C>A	VUS	1 lab	6487e9f8ef
2:167284457 SCN7A C>T	2	167284457	167284457	C	T	SCN7A	c.2699-5G>A	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167284457C>T	(Likely) benign	1 lab	648ec2c6f8
17:39921011 JUP T>G	17	39921011	39921011	T	G	JUP	c.1112A>C	NM_002230.2	NP_002221.1:p.(Asn371Thr)	NC_000017.10:g.39921011T>G	VUS	1 lab	64968e1728
20:42744920 JPH2 C>T	20	42744920	42744920	C	T	JPH2	c.1395G>A	NM_020433.4	NP_065166.2:p.(Pro465=)	NC_000020.10:g.42744920C>T	(Likely) benign	1 lab	649a8b1880
2:217293418 SMARCAL1 T>TC	2	217293418	217293419	T	TC	SMARCAL1	c.1248dup	NM_014140.4	NP_054859.2:p.(Thr417HisfsTer11)	NC_000002.11:g.217293419dup	(Likely) pathogenic	1 lab	649b4cdbd1
19:1220563 STK11 G>A	19	1220563	1220563	G	A	STK11	c.598-17G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220563G>A	(Likely) benign	1 lab	649c361cee
6:76595740 MYO6 T>G	6	76595740	76595740	T	G	MYO6	c.2436T>G	NM_004999.4	NP_004990.3:p.(Tyr812Ter)	NC_000006.11:g.76595740T>G	(Likely) pathogenic	1 lab	649f8b1a39
X:107911648 COL4A5 G>A	X	107911648	107911648	G	A	COL4A5	c.3704G>A	NM_033380.2	NP_203699.1:p.(Gly1235Asp)	NC_000023.10:g.107911648G>A	(Likely) pathogenic	1 lab	64a000a0c4
15:63354767 TPM1 C>T	15	63354767	63354767	C	T	TPM1	c.703-8C>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63354767C>T	(Likely) benign	1 lab	64a511264c
3:189582162 TP63 G>A	3	189582162	189582162	G	A	TP63	c.721G>A	NM_003722.4	NP_003713.3:p.(Val241Met)	NC_000003.11:g.189582162G>A	(Likely) pathogenic	1 lab	64a61cceff
7:94045753 COL1A2 G>A	7	94045753	94045753	G	A	COL1A2	c.1801G>A	NM_000089.4	NP_000080.2:p.(Gly601Ser)	NC_000007.13:g.94045753G>A	(Likely) pathogenic	1 lab	64ac9c5424
X:153171501 AVPR2 C>T	X	153171501	153171501	C	T	AVPR2	c.541C>T	NM_000054.4	NP_000045.1:p.(Arg181Cys)	NC_000023.10:g.153171501C>T	(Likely) pathogenic	1 lab	64af95b19e
6:152787144 SYNE1 C>A	6	152787144	152787144	C	A	SYNE1	c.1702G>T	NM_182961.3	NP_892006.3:p.(Glu568Ter)	NC_000006.11:g.152787144C>A	(Likely) pathogenic	1 lab	64b572b094
14:23885485 MYH7 C>A	14	23885485	23885485	C	A	MYH7	c.4681G>T	NM_000257.3	NP_000248.2:p.(Ala1561Ser)	NC_000014.8:g.23885485C>A	VUS	1 lab	64b6ad55ab
22:41573203 EP300 A>G	22	41573203	41573203	A	G	EP300	c.5488A>G	NM_001429.4	NP_001420.2:p.(Arg1830Gly)	NC_000022.10:g.41573203A>G	VUS	1 lab	64b6ba9ae9
1:70504559 LRRC7 C>T	1	70504559	70504559	C	T	LRRC7	c.2938C>T	NM_020794.2	NP_065845.1:p.(Arg980Ter)	NC_000001.10:g.70504559C>T	VUS	1 lab	64bb2a2275
2:200233362 SATB2 A>T	2	200233362	200233362	A	T	SATB2	c.666T>A	NM_001172509.2	NP_001165980.1:p.(Phe222Leu)	NC_000002.11:g.200233362A>T	VUS	1 lab	64c09a29e0
X:153640231 TAFAZZIN G>C	X	153640231	153640231	G	C	TAFAZZIN	c.51G>C	NM_000116.4	NP_000107.1:p.(Trp17Cys)	NC_000023.10:g.153640231G>C	(Likely) benign	1 lab	64c26e9517
16:56926966 SLC12A3 G>C	16	56926966	56926966	G	C	SLC12A3				NC_000016.9:g.56926966G>C	(Likely) pathogenic	1 lab	64cac7503b
16:15808785 MYH11 C>T	16	15808785	15808785	C	T	MYH11	c.5788G>A	NM_001040113.1	NP_001035202.1:p.(Ala1930Thr)	NC_000016.9:g.15808785C>T	(Likely) benign	1 lab	64d841b00c
11:118011973 SCN4B A>G	11	118011973	118011973	A	G	SCN4B	c.542T>C	NM_174934.3	NP_777594.1:p.(Leu181Pro)	NC_000011.9:g.118011973A>G	(Likely) benign	1 lab	64d9431071
16:2149782 LOC127882779 G>A	16	2149782	2149782	G	A	LOC127882779				NC_000016.9:g.2149782G>A	(Likely) benign	1 lab	6948716763
1:218614598 TGFB2 G>A	1	218614598	218614598	G	A	TGFB2	c.1139G>A	NM_003238.6	NP_003229.1:p.(Cys380Tyr)	NC_000001.10:g.218614598G>A	VUS	1 lab	64da257620
1:155874261 RIT1 C>T	1	155874261	155874261	C	T	RIT1	c.270G>A	NM_006912.6	NP_008843.1:p.(Met90Ile)	NC_000001.10:g.155874261C>T	(Likely) pathogenic	1 lab	64da862044
3:189608631 TP63 G>T	3	189608631	189608631	G	T	TP63	c.1706G>T	NM_003722.4	NP_003713.3:p.(Gly569Val)	NC_000003.11:g.189608631G>T	(Likely) pathogenic	1 lab	64e066b9d5
22:37480897 TMPRSS6 C>T	22	37480897	37480897	C	T	TMPRSS6	c.1001-18G>A	NM_153609.3	NP_705837.1:p.?	NC_000022.10:g.37480897C>T	VUS	1 lab	64e0865443
3:8787717 CAV3 C>T	3	8787717	8787717	C	T	CAV3	c.*164C>T	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8787717C>T	VUS	1 lab	64e28c0add
6:152655288 SYNE1 G>A	6	152655288	152655288	G	A	SYNE1				NC_000006.11:g.152655288G>A	(Likely) pathogenic	1 lab	64e3497c60
1:201022666 CACNA1S C>T	1	201022666	201022666	C	T	CACNA1S	c.3716G>A	NM_000069.3	NP_000060.2:p.(Arg1239His)	NC_000001.10:g.201022666C>T	(Likely) pathogenic	1 lab	64e8cc7ff8
13:32944720 BRCA2 A>G	13	32944720	32944720	A	G	BRCA2	c.8487+26A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32944720A>G	(Likely) benign	1 lab	64e97020ce
11:47359335 MYBPC3 G>A	11	47359335	47359335	G	A	MYBPC3	c.2319C>T	NM_000256.3	NP_000247.2:p.(Asp773=)	NC_000011.9:g.47359335G>A	(Likely) benign	1 lab	64eeed15b6
17:41245649 BRCA1 TG>T	17	41245649	41245652	TG	T	BRCA1	c.1898del	NM_007294.4	NP_009225.1:p.(Pro633HisfsTer18)	NC_000017.10:g.41245652del	(Likely) pathogenic	1 lab	64f36cf5df
14:23856793 MYH6 C>T	14	23856793	23856793	C	T	MYH6	c.4595G>A	NM_002471.3	NP_002462.2:p.(Arg1532His)	NC_000014.8:g.23856793C>T	VUS	1 lab	64f3ca4b85
2:167262510 SCN7A A>T	2	167262510	167262510	A	T	SCN7A	c.4629T>A	NM_002976.4	NP_002967.2:p.(Ala1543=)	NC_000002.11:g.167262510A>T	(Likely) benign	1 lab	64f5afa46c
16:23641447 PALB2 A>C	16	23641447	23641447	A	C	PALB2	c.2028T>G	NM_024675.3	NP_078951.2:p.(Ile676Met)	NC_000016.9:g.23641447A>C	(Likely) benign	1 lab	64f6f73ba4
X:48792128 OTUD5 C>T	X	48792128	48792128	C	T	OTUD5	c.766G>A	NM_017602.3	NP_060072.1:p.(Asp256Asn)	NC_000023.10:g.48792128C>T	(Likely) pathogenic	1 lab	64f7d8e741
16:2142122 PKD1 G>C	16	2142122	2142122	G	C	PKD1	c.11337C>G	NM_001009944.2	NP_001009944.2:p.(Ser3779Arg)	NC_000016.9:g.2142122G>C	(Likely) benign	1 lab	09866322ff
20:3063787 AVP A>C	20	3063787	3063787	A	C	AVP	c.158T>G	NM_000490.4	NP_000481.2:p.(Phe53Cys)	NC_000020.10:g.3063787A>C	VUS	1 lab	64fad5d643
7:107427328 SLC26A3 G>T	7	107427328	107427328	G	T	SLC26A3	c.915C>A	NM_000111.2	NP_000102.1:p.(Tyr305Ter)	NC_000007.13:g.107427328G>T	(Likely) pathogenic	1 lab	64fc981115
1:179520447 NPHS2 A>C	1	179520447	179520447	A	C	NPHS2	c.1013T>G	NM_014625.3	NP_055440.1:p.(Val338Gly)	NC_000001.10:g.179520447A>C	VUS	1 lab	65004ab1e2
8:141461138 TRAPPC9 TCATA>T	8	141461138	141461144	TCATA	T	TRAPPC9	c.625_628del	NM_031466.7	NP_113654.4:p.(Tyr209ThrfsTer77)	NC_000008.10:g.141461141_141461144del	(Likely) pathogenic	1 lab	6504a7b0df
X:605368 SHOX C>A	X	605368	605368	C	A	SHOX	c.876C>A	NM_000451.3	NP_000442.1:p.(Leu292=)	NC_000023.10:g.605368C>A	(Likely) benign	1 lab	6505ba36e9
10:73082813 SLC29A3 T>C	10	73082813	73082813	T	C	SLC29A3	c.300+2T>C	NM_018344.5	NP_060814.4:p.?	NC_000010.10:g.73082813T>C	(Likely) pathogenic	1 lab	650f57a737
19:36579992 WDR62 TC>T	19	36579992	36579993	TC	T	WDR62	c.1822del	NM_001083961.1	NP_001077430.1:p.(Arg608AlafsTer18)	NC_000019.9:g.36579993del	(Likely) pathogenic	1 lab	651077afec
11:47359040 MYBPC3 C>A	11	47359040	47359040	C	A	MYBPC3	c.2504G>T	NM_000256.3	NP_000247.2:p.(Arg835Leu)	NC_000011.9:g.47359040C>A	VUS	1 lab	65120f03aa
2:186661602 FSIP2 A>G	2	186661602	186661602	A	G	FSIP2				NC_000002.11:g.186661602A>G	VUS	1 lab	65135dcd41
10:17171197 CUBN G>C	10	17171197	17171197	G	C	CUBN	c.175C>G	NM_001081.3	NP_001072.2:p.(Gln59Glu)	NC_000010.10:g.17171197G>C	(Likely) benign	1 lab	098bf21eb5
11:2798305 KCNQ1 T>C	11	2798305	2798305	T	C	KCNQ1	c.1732+43T>C	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2798305T>C	(Likely) benign	1 lab	651831d679
2:39285876 SOS1 C>T	2	39285876	39285876	C	T	SOS1	c.283G>A	NM_005633.4	NP_005624.2:p.(Glu95Lys)	NC_000002.11:g.39285876C>T	(Likely) benign	1 lab	651aaf638d
1:6209057 CHD5 C>T	1	6209057	6209057	C	T	CHD5	c.1240G>A	NM_015557.2	NP_056372.1:p.(Asp414Asn)	NC_000001.10:g.6209057C>T	VUS	1 lab	651c9bb43c
4:158005913 GLRB C>T	4	158005913	158005913	C	T	GLRB	c.122+6615C>T	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.158005913C>T	(Likely) benign	1 lab	098c264358
22:51169601 MISSING G>C	22	51169601	51169601	G	C	MISSING				NC_000022.10:g.51169601G>C	VUS	1 lab	651f401120
20:52789885 CYP24A1 A>C	20	52789885	52789885	A	C	CYP24A1	c.234T>G	NM_000782.4	NP_000773.2:p.(Gly78=)	NC_000020.10:g.52789885A>C	(Likely) benign	1 lab	651fae2ba9
15:57924668 MYZAP C>T	15	57924668	57924668	C	T	MYZAP	c.715C>T	NM_001018100.5	NP_001018110.1:p.(Arg239Ter)	NC_000015.9:g.57924668C>T	VUS	1 lab	098d5effe9
1:229567918 ACTA1 C>T	1	229567918	229567918	C	T	ACTA1	c.631G>A	NM_001100.3	NP_001091.1:p.(Val211Met)	NC_000001.10:g.229567918C>T	VUS	1 lab	652204e424
17:59934549 BRIP1 T>C	17	59934549	59934549	T	C	BRIP1	c.249A>G	NM_032043.3	NP_114432.2:p.(Gln83=)	NC_000017.10:g.59934549T>C	(Likely) benign	1 lab	6524098784
1:161480718 FCGR2A G>A	1	161480718	161480718	G	A	FCGR2A	c.711G>A	NM_021642.5	NP_067674.2:p.(Leu237=)	NC_000001.10:g.161480718G>A	(Likely) benign	1 lab	098db64270
1:43394987 SLC2A1 T>C	1	43394987	43394987	T	C	SLC2A1				NC_000001.10:g.43394987T>C	(Likely) pathogenic	1 lab	6528923c43
6:31914376 CFB G>A	6	31914376	31914376	G	A	CFB	c.291G>A	NM_001710.6	NP_001701.2:p.(Glu97=)	NC_000006.11:g.31914376G>A	(Likely) benign	1 lab	6529c749a4
7:91718715 AKAP9 C>T	7	91718715	91718715	C	T	AKAP9	c.9230C>T	NM_005751.4	NP_005742.4:p.(Ala3077Val)	NC_000007.13:g.91718715C>T	(Likely) benign	1 lab	652a2728d8
22:25011088 GGT1 C>T	22	25011088	25011088	C	T	GGT1	c.376C>T	NM_001288833.2	NP_001275762.1:p.(Gln126Ter)	NC_000022.10:g.25011088C>T	VUS	1 lab	653048b090
2:152548663 NEB TAA>T	2	152548663	152548665	TAA	T	NEB	c.2014_2015del	NM_001164508.2	NP_001157980.2:p.(Leu672IlefsTer30)	NC_000002.11:g.152548664_152548665del	(Likely) pathogenic	1 lab	65327c80ad
X:153648452 TAFAZZIN A>AG	X	153648452	153648453	A	AG	TAFAZZIN	c.646+19_646+20insG	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648452_153648453insG	(Likely) benign	1 lab	653888b9c8
20:32031329 SNTA1 A>C	20	32031329	32031329	A	C	SNTA1	c.98T>G	NM_003098.2	NP_003089.1:p.(Leu33Arg)	NC_000020.10:g.32031329A>C	(Likely) benign	1 lab	653af65508
4:114293762 ANK2 G>A	4	114293762	114293762	G	A	ANK2	c.11611-484G>A	NM_001148.5	NP_001139.3:p.?	NC_000004.11:g.114293762G>A	(Likely) benign	1 lab	653ce6c19b
14:55312547 GCH1 T>A	14	55312547	55312547	T	A	GCH1	c.565A>T	NM_000161.2	NP_000152.1:p.(Ile189Phe)	NC_000014.8:g.55312547T>A	VUS	1 lab	653d5e67b9
7:24745803 GSDME C>A	7	24745803	24745803	C	A	GSDME	c.1183G>T	NM_001127453.1	NP_001120925.1:p.(Glu395Ter)	NC_000007.13:g.24745803C>A	(Likely) pathogenic	1 lab	653ed10b63
X:152959856 SLC6A8 C>T	X	152959856	152959856	C	T	SLC6A8	c.1450C>T	NM_005629.3	NP_005620.1:p.(Leu484Phe)	NC_000023.10:g.152959856C>T	VUS	1 lab	653f0febb6
14:51095131 ATL1 G>A	14	51095131	51095131	G	A	ATL1	c.1502G>A	NM_015915.4	NP_056999.2:p.(Arg501Gln)	NC_000014.8:g.51095131G>A	VUS	1 lab	6543ccb27d
17:61683701 TACO1 A>C	17	61683701	61683701	A	C	TACO1	c.416A>C	NM_016360.3	NP_057444.2:p.(Glu139Ala)	NC_000017.10:g.61683701A>C	VUS	1 lab	6546786f13
18:42532923 SETBP1 T>C	18	42532923	42532923	T	C	SETBP1	c.3618T>C	NM_015559.2	NP_056374.2:p.(His1206=)	NC_000018.9:g.42532923T>C	(Likely) benign	1 lab	654797f0fd
1:197411423 CRB1 G>C	1	197411423	197411423	G	C	CRB1	c.4005+1G>C	NM_201253.3	NP_957705.1:p.?	NC_000001.10:g.197411423G>C	(Likely) pathogenic	1 lab	6549515b88
X:154088879 F8 T>G	X	154088879	154088879	T	G	F8	c.6728A>C	NM_000132.3	NP_000123.1:p.(Asn2243Thr)	NC_000023.10:g.154088879T>G	VUS	1 lab	6549787963
16:79633593 MAF AG>A	16	79633593	79633598	AG	A	MAF				NC_000016.9:g.79633598del	VUS	1 lab	654c5bedb1
19:6694578 C3 G>A	19	6694578	6694578	G	A	C3	c.3018C>T	NM_000064.2	NP_000055.2:p.(Thr1006=)	NC_000019.9:g.6694578G>A	(Likely) benign	1 lab	09910a4479
16:21763716 OTOA T>C	16	21763716	21763716	T	C	OTOA	c.2945T>C	NM_144672.3	NP_653273.3:p.(Leu982Pro)	NC_000016.9:g.21763716T>C	VUS	1 lab	655131bdc4
9:131360565 SPTAN1 TG>T	9	131360565	131360567	TG	T	SPTAN1	c.3415-112del	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131360567del	(Likely) benign	1 lab	099189f0b7
10:89685311 PTEN A>G	10	89685311	89685311	A	G	PTEN	c.206A>G	NM_000314.8	NP_000305.3:p.(Asn69Ser)	NC_000010.10:g.89685311A>G	VUS	1 lab	6558981c9d
20:33574698 MYH7B TTCTG>T	20	33574698	33574705	TTCTG	T	MYH7B	c.1044_1047del	NM_020884.4	NP_065935.3:p.(Ser349Ter)	NC_000020.10:g.33574702_33574705del	VUS	1 lab	655900af96
1:120539839 NOTCH2 T>C	1	120539839	120539839	T	C	NOTCH2	c.532A>G	NM_024408.3	NP_077719.2:p.(Lys178Glu)	NC_000001.10:g.120539839T>C	VUS	1 lab	6559245a6a
12:88453773 CEP290 G>A	12	88453773	88453773	G	A	CEP290	c.6547C>T	NM_025114.3	NP_079390.3:p.(His2183Tyr)	NC_000012.11:g.88453773G>A	VUS	1 lab	6559fab15d
17:41246737 BRCA1 C>T	17	41246737	41246737	C	T	BRCA1	c.811G>A	NM_007294.3	NP_009225.1:p.(Val271Met)	NC_000017.10:g.41246737C>T	VUS	1 lab	655afb8d4d
X:107802304 COL4A5 G>T	X	107802304	107802304	G	T	COL4A5	c.152G>T	NM_033380.3	NP_203699.1:p.(Gly51Val)	NC_000023.10:g.107802304G>T	(Likely) pathogenic	1 lab	655da3e523
17:41244725 BRCA1 A>C	17	41244725	41244725	A	C	BRCA1	c.2823T>G	NM_007294.3	NP_009225.1:p.(Asn941Lys)	NC_000017.10:g.41244725A>C	(Likely) benign	1 lab	655e474871
1:216363638 USH2A C>T	1	216363638	216363638	C	T	USH2A	c.4323G>A	NM_206933.2	NP_996816.2:p.(Glu1441=)	NC_000001.10:g.216363638C>T	(Likely) benign	1 lab	655ea824bb
17:59876555 BRIP1 G>A	17	59876555	59876555	G	A	BRIP1	c.1246C>T	NM_032043.2	NP_114432.2:p.(Arg416Trp)	NC_000017.10:g.59876555G>A	VUS	1 lab	656423b741
11:108153487 ATM T>C	11	108153487	108153487	T	C	ATM	c.3627T>C	NM_000051.4	NP_000042.3:p.(Phe1209=)	NC_000011.9:g.108153487T>C	(Likely) benign	1 lab	656b8ef4c0
19:7593524 MCOLN1 CT>C	19	7593524	7593525	CT	C	MCOLN1	c.920del	NM_020533.2	NP_065394.1:p.(Leu307ProfsTer65)	NC_000019.9:g.7593525del	(Likely) pathogenic	1 lab	657483305f
7:103207077 RELN G>A	7	103207077	103207077	G	A	RELN	c.4718C>T	NM_005045.3	NP_005036.2:p.(Thr1573Met)	NC_000007.13:g.103207077G>A	VUS	1 lab	6578b9243d
18:29126495 DSG2 G>T	18	29126495	29126495	G	T	DSG2	c.3146G>T	NM_001943.4	NP_001934.2:p.(Arg1049Ile)	NC_000018.9:g.29126495G>T	VUS	1 lab	657945badb
6:31837340 SLC44A4 T>C	6	31837340	31837340	T	C	SLC44A4	c.1112A>G	NM_025257.2	NP_079533.2:p.(Tyr371Cys)	NC_000006.11:g.31837340T>C	VUS	1 lab	6579cf3e8e
16:2165444 PKD1 C>T	16	2165444	2165444	C	T	PKD1	c.2032G>A	NM_001009944.2	NP_001009944.2:p.(Ala678Thr)	NC_000016.9:g.2165444C>T	(Likely) benign	1 lab	099d6e5f30
2:227892658 COL4A4 T>C	2	227892658	227892658	T	C	COL4A4	c.4041A>G	NM_000092.4	NP_000083.3:p.(Leu1347=)	NC_000002.11:g.227892658T>C	(Likely) benign	1 lab	65829c8519
22:40815089 MRTFA G>C	22	40815089	40815089	G	C	MRTFA	c.1353C>G	NM_020831.4	NP_065882.1:p.(Pro451=)	NC_000022.10:g.40815089G>C	(Likely) benign	1 lab	6585bfc2a8
15:72641442 HEXA C>A	15	72641442	72641442	C	A	HEXA	c.964G>T	NM_000520.6	NP_000511.2:p.(Asp322Tyr)	NC_000015.9:g.72641442C>A	(Likely) pathogenic	1 lab	6588e796f2
14:23858817 MYH6 G>C	14	23858817	23858817	G	C	MYH6	c.3844C>G	NM_002471.3	NP_002462.2:p.(Leu1282Val)	NC_000014.8:g.23858817G>C	VUS	1 lab	099e593889
15:91354505 BLM C>T	15	91354505	91354505	C	T	BLM				NC_000015.9:g.91354505C>T	(Likely) benign	1 lab	658d4fbae6
1:8420317 RERE A>AC	1	8420317	8420324	A	AC	RERE	c.3249dup	NM_012102.4	NP_036234.3:p.(Ser1084ValfsTer19)	NC_000001.10:g.8420324dup	(Likely) pathogenic	1 lab	0000bbf525
10:92672667 ANKRD1 G>A	10	92672667	92672667	G	A	ANKRD1	c.916C>T	NM_014391.3	NP_055206.2:p.(Leu306Phe)	NC_000010.10:g.92672667G>A	VUS	1 lab	0001d911a3
3:14176252 TMEM43 C>T	3	14176252	14176252	C	T	TMEM43	c.584-18C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14176252C>T	(Likely) benign	1 lab	0003a61f05
3:14170930 TMEM43 C>T	3	14170930	14170930	C	T	TMEM43	c.31C>T	NM_024334.3	NP_077310.1:p.(Arg11Trp)	NC_000003.11:g.14170930C>T	VUS	1 lab	0005713233
X:41205623 DDX3X A>C	X	41205623	41205623	A	C	DDX3X	c.1457A>C	NM_001356.5	NP_001347.3:p.(Gln486Pro)	NC_000023.10:g.41205623A>C	VUS	1 lab	000ad6b166
19:11216146 LDLR C>G	19	11216146	11216146	C	G	LDLR	c.564C>G	NM_000527.5	NP_000518.1:p.(Tyr188Ter)	NC_000019.9:g.11216146C>G	(Likely) pathogenic	1 lab	000bbe801c
5:179250937 SQSTM1 C>G	5	179250937	179250937	C	G	SQSTM1	c.381C>G	NM_003900.5	NP_003891.1:p.(Ile127Met)	NC_000005.9:g.179250937C>G	VUS	1 lab	000cfc5c40
19:11223978 LDLR C>T	19	11223978	11223978	C	T	LDLR	c.1211C>T	NM_000527.5	NP_000518.1:p.(Thr404Ile)	NC_000019.9:g.11223978C>T	(Likely) pathogenic	1 lab	00130d82e3
21:31174954 MISSING Ref too long to show for this DEL>A	21	31174954	31681373	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.31174956_31681373del	VUS	1 lab	0013e21f54
14:21776004 RPGRIP1 CCAT>C	14	21776004	21776012	CCAT	C	RPGRIP1	c.906+15_906+17del	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21776010_21776012del	(Likely) benign	1 lab	001419f0e9
18:10704448 PIEZO2 A>G	18	10704448	10704448	A	G	PIEZO2	c.5863T>C	NM_022068.4	NP_071351.2:p.(Leu1955=)	NC_000018.9:g.10704448A>G	(Likely) benign	1 lab	00154396a8
6:32029205 TNXB G>A	6	32029205	32029205	G	A	TNXB	c.7461C>T	NM_019105.8	NP_061978.6:p.(Arg2487=)	NC_000006.11:g.32029205G>A	(Likely) benign	1 lab	001b27fad3
16:920777 LMF1 G>C	16	920777	920777	G	C	LMF1	c.785C>G	NM_001352018.2	NP_001338947.1:p.(Thr262Ser)	NC_000016.9:g.920777G>C	(Likely) benign	1 lab	001cd4de6a
X:13778416 OFD1 A>G	X	13778416	13778416	A	G	OFD1	c.1837A>G	NM_003611.3	NP_003602.1:p.(Thr613Ala)	NC_000023.10:g.13778416A>G	(Likely) benign	1 lab	001d3f92d5
20:62038392 KCNQ2 TG>T	20	62038392	62038393	TG	T	KCNQ2	c.2277del	NM_001382235.1	NP_001369164.1:p.(Ile760SerfsTer188)	NC_000020.10:g.62038393del	(Likely) pathogenic	1 lab	001eeb5faa
2:27306455 EMILIN1 C>T	2	27306455	27306455	C	T	EMILIN1	c.2016C>T	NM_007046.4	NP_008977.1:p.(Gly672=)	NC_000002.11:g.27306455C>T	(Likely) benign	1 lab	0022ab5553
4:163037262 MISSING Ref too long to show for this DEL>T	4	163037262	163091059	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.163037264_163091059del	VUS	1 lab	00240ae29c
11:1016988 MUC6 ATGT>A	11	1016988	1016993	ATGT	A	MUC6	c.5810_5812del	NM_005961.3	NP_005952.2:p.(Asn1937del)	NC_000011.9:g.1016991_1016993del	(Likely) benign	1 lab	0025bfe5d9
10:61842498 ANK3 A>G	10	61842498	61842498	A	G	ANK3	c.4201-3T>C	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61842498A>G	(Likely) benign	1 lab	00274f1704
3:38645390 SCN5A C>G	3	38645390	38645390	C	G	SCN5A	c.1703G>C	NM_198056.3	NP_932173.1:p.(Arg568Pro)	NC_000003.11:g.38645390C>G	VUS	1 lab	00281c9935
17:46628518 HOXB3 A>G	17	46628518	46628518	A	G	HOXB3	c.474T>C	NM_002146.4	NP_002137.4:p.(Gly158=)	NC_000017.10:g.46628518A>G	(Likely) benign	1 lab	002a61071d
1:63069752 ANGPTL3 T>G	1	63069752	63069752	T	G	ANGPTL3	c.1044T>G	NM_014495.4	NP_055310.1:p.(Ser348=)	NC_000001.10:g.63069752T>G	(Likely) benign	1 lab	002bdf0d45
14:75514460 MLH3 A>G	14	75514460	75514460	A	G	MLH3	c.1899T>C	NM_001040108.2	NP_001035197.1:p.(Pro633=)	NC_000014.8:g.75514460A>G	(Likely) benign	1 lab	002dcf36bb
2:51221423 MISSING Ref too long to show for this DEL>A	2	51221423	51602566	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.51221424_51602566del	(Likely) pathogenic	1 lab	002f0dbb12
9:139407377 NOTCH1 A>C	9	139407377	139407377	A	C	NOTCH1	c.2467+96T>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407377A>C	(Likely) benign	1 lab	002f4791c3
6:31747903 VARS1 G>A	6	31747903	31747903	G	A	VARS1	c.2953C>T	NM_006295.3	NP_006286.1:p.(Arg985Cys)	NC_000006.11:g.31747903G>A	VUS	1 lab	002fed4c3b
15:85403458 ALPK3 GC>G	15	85403458	85403459	GC	G	ALPK3	c.4129+156del	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85403459del	(Likely) benign	1 lab	003087dc7e
11:65313977 LTBP3 C>T	11	65313977	65313977	C	T	LTBP3	c.2289G>A	NM_001130144.3	NP_001123616.1:p.(Pro763=)	NC_000011.9:g.65313977C>T	(Likely) benign	1 lab	00327f7b0f
9:107560730 ABCA1 T>C	9	107560730	107560730	T	C	ABCA1	c.5093A>G	NM_005502.4	NP_005493.2:p.(Tyr1698Cys)	NC_000009.11:g.107560730T>C	VUS	1 lab	00368b0a0c
2:97909665 ANKRD36 G>A	2	97909665	97909665	G	A	ANKRD36	c.4390G>A	NM_001354587.1	NP_001341516.1:p.(Glu1464Lys)	NC_000002.11:g.97909665G>A	(Likely) benign	1 lab	00379f3d61
2:179483594 TTN T>G	2	179483594	179483594	T	G	TTN	c.46697-14A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483594T>G	(Likely) benign	1 lab	00383e85c0
6:75887556 COL12A1 G>A	6	75887556	75887556	G	A	COL12A1	c.2260C>T	NM_004370.6	NP_004361.3:p.(Arg754Ter)	NC_000006.11:g.75887556G>A	VUS	1 lab	003a91e43f
3:132196815 DNAJC13 TA>T	3	132196815	132196819	TA	T	DNAJC13	c.2550-6del	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132196819del	(Likely) benign	1 lab	003b49bd79
10:95400664 PDE6C GTTATTTTTTTAGA>G	10	95400664	95400677	GTTATTTTTTTAGA	G	PDE6C	c.1738-12_1738del	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95400665_95400677del	(Likely) pathogenic	1 lab	003f61d8a3
2:32362247 SPAST G>C	2	32362247	32362247	G	C	SPAST	c.1483G>C	NM_014946.4	NP_055761.2:p.(Ala495Pro)	NC_000002.11:g.32362247G>C	(Likely) pathogenic	1 lab	003f627dbb
17:41244465 BRCA1 C>G	17	41244465	41244465	C	G	BRCA1	c.3083G>C	NM_007294.4	NP_009225.1:p.(Arg1028Pro)	NC_000017.10:g.41244465C>G	(Likely) benign	1 lab	00416eee10
1:197392184 CRB1 A>AT	1	197392184	197392192	A	AT	CRB1	c.1921+1106dup	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197392192dup	(Likely) benign	1 lab	00425ac415
12:75824637 MISSING C>Alt too long to show for this DUP	12	75824637	75862315	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.75824639_75862315dup	VUS	1 lab	004288e98a
1:237664000 RYR2 C>T	1	237664000	237664000	C	T	RYR2	c.2204-11C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237664000C>T	(Likely) benign	1 lab	0042d1e93f
11:47366432 MYBPC3 C>T	11	47366432	47366432	C	T	MYBPC3	c.1091-1257G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366432C>T	(Likely) benign	1 lab	0042e76265
2:44101620 ABCG8 A>G	2	44101620	44101620	A	G	ABCG8	c.1486A>G	NM_022437.3	NP_071882.1:p.(Lys496Glu)	NC_000002.11:g.44101620A>G	VUS	1 lab	0044fee8af
2:27592090 EIF2B4 TA>T	2	27592090	27592101	TA	T	EIF2B4	c.167-12del	NM_001318966.2	NP_001305895.1:p.?	NC_000002.11:g.27592101del	(Likely) benign	1 lab	004772c8dd
2:179419235 TTN T>C	2	179419235	179419235	T	C	TTN	c.88839A>G	NM_001267550.2	NP_001254479.2:p.(Lys29613=)	NC_000002.11:g.179419235T>C	(Likely) benign	1 lab	004c41b4be
18:3451377 MISSING C>Alt too long to show for this DUP	18	3451377	3731695	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.3451378_3731695dup	VUS	1 lab	004e54e5c4
11:108117809 ATM C>T	11	108117809	108117809	C	T	ATM	c.1020C>T	NM_000051.4	NP_000042.3:p.(Ala340=)	NC_000011.9:g.108117809C>T	(Likely) benign	1 lab	0053ada7bc
11:9989979 SBF2 T>C	11	9989979	9989979	T	C	SBF2	c.1509A>G	NM_030962.4	NP_112224.1:p.(Glu503=)	NC_000011.9:g.9989979T>C	(Likely) benign	1 lab	0053bd418c
2:179414287 TTN G>A	2	179414287	179414287	G	A	TTN	c.92152+10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179414287G>A	(Likely) benign	1 lab	005653b7db
11:76370944 LRRC32 G>A	11	76370944	76370944	G	A	LRRC32	c.1693C>T	NM_005512.3	NP_005503.1:p.(Arg565Cys)	NC_000011.9:g.76370944G>A	VUS	1 lab	005ba1a1e6
2:179458078 TTN T>G	2	179458078	179458078	T	G	TTN	c.58857A>C	NM_001267550.2	NP_001254479.2:p.(Glu19619Asp)	NC_000002.11:g.179458078T>G	VUS	1 lab	006399c90c
7:128491690 FLNC G>A	7	128491690	128491690	G	A	FLNC	c.5842+8G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491690G>A	(Likely) benign	1 lab	0068146a16
21:45750179 CFAP410 G>A	21	45750179	45750179	G	A	CFAP410	c.1030C>T	NM_001271441.2	NP_001258370.1:p.(Arg344Trp)	NC_000021.8:g.45750179G>A	VUS	1 lab	006a8381e3
19:40909732 PRX T>C	19	40909732	40909732	T	C	PRX	c.65A>G	NM_020956.2	NP_066007.1:p.(Glu22Gly)	NC_000019.9:g.40909732T>C	(Likely) benign	1 lab	006aa0c107
9:107599766 ABCA1 G>A	9	107599766	107599766	G	A	ABCA1	c.1137C>T	NM_005502.4	NP_005493.2:p.(Leu379=)	NC_000009.11:g.107599766G>A	(Likely) benign	1 lab	006b334758
10:13333825 PHYH A>T	10	13333825	13333825	A	T	PHYH	c.202T>A	NM_001323084.2	NP_001310013.1:p.(Cys68Ser)	NC_000010.10:g.13333825A>T	VUS	1 lab	006f9e7a51
16:67976365 LCAT G>A	16	67976365	67976365	G	A	LCAT	c.649C>T	NM_000229.2	NP_000220.1:p.(Arg217Cys)	NC_000016.9:g.67976365G>A	VUS	1 lab	0071c74b32
X:107662735 MISSING T>Alt too long to show for this DUP	X	107662735	107989335	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.107662736_107989335dup	VUS	1 lab	007373ca34
20:10639383 JAG1 T>C	20	10639383	10639383	T	C	JAG1	c.440-13A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639383T>C	(Likely) benign	1 lab	00767fcfd7
20:744615 SLC52A3 G>A	20	744615	744615	G	A	SLC52A3	c.600C>T	NM_033409.4	NP_212134.3:p.(Pro200=)	NC_000020.10:g.744615G>A	(Likely) benign	1 lab	0077eb8fc6
9:6645437 GLDC G>T	9	6645437	6645437	G	T	GLDC	c.63C>A	NM_000170.3	NP_000161.2:p.(Arg21=)	NC_000009.11:g.6645437G>T	(Likely) benign	1 lab	007854acb3
8:10467615 RP1L1 C>T	8	10467615	10467615	C	T	RP1L1	c.3993G>A	NM_178857.6	NP_849188.4:p.(Leu1331=)	NC_000008.10:g.10467615C>T	(Likely) benign	1 lab	0080fd4b53
2:189918642 COL5A2 A>G	2	189918642	189918642	A	G	COL5A2	c.2478T>C	NM_000393.5	NP_000384.2:p.(Pro826=)	NC_000002.11:g.189918642A>G	(Likely) benign	1 lab	00810bc76c
3:3179026 TRNT1 T>C	3	3179026	3179026	T	C	TRNT1	c.231T>C	NM_001367321.1	NP_001354250.1:p.(Asp77=)	NC_000003.11:g.3179026T>C	(Likely) benign	1 lab	00811cb016
4:114277838 ANK2 A>T	4	114277838	114277838	A	T	ANK2	c.8064A>T	NM_001148.6	NP_001139.3:p.(Arg2688=)	NC_000004.11:g.114277838A>T	(Likely) benign	1 lab	0081cd2222
13:110804766 COL4A1 C>T	13	110804766	110804766	C	T	COL4A1	c.4843G>A	NM_001845.6	NP_001836.3:p.(Glu1615Lys)	NC_000013.10:g.110804766C>T	(Likely) pathogenic	1 lab	0082f9cb92
1:222835473 MIA3 G>A	1	222835473	222835473	G	A	MIA3	c.5182+7G>A	NM_198551.4	NP_940953.2:p.?	NC_000001.10:g.222835473G>A	(Likely) benign	1 lab	00845b8846
16:88505093 ZNF469 C>T	16	88505093	88505093	C	T	ZNF469	c.11215C>T	NM_001367624.2	NP_001354553.1:p.(Arg3739Cys)	NC_000016.9:g.88505093C>T	VUS	1 lab	0085bd53cb
X:100505962 DRP2 G>A	X	100505962	100505962	G	A	DRP2	c.1755G>A	NM_001939.3	NP_001930.2:p.(Glu585=)	NC_000023.10:g.100505962G>A	(Likely) benign	1 lab	00860bbce0
7:22918680 MISSING Ref too long to show for this DEL>A	7	22918680	25067082	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.22918681_25067082del	(Likely) pathogenic	1 lab	0087f58338
1:878051 SAMD11 CG>C	1	878051	878053	CG	C	SAMD11	c.1179del	NM_152486.4	NP_689699.3:p.(Arg394AlafsTer7)	NC_000001.10:g.878053del	VUS	1 lab	008c610cf2
14:88450778 GALC C>T	14	88450778	88450778	C	T	GALC	c.542G>A	NM_000153.4	NP_000144.2:p.(Gly181Asp)	NC_000014.8:g.88450778C>T	(Likely) pathogenic	1 lab	009201174a
2:73678389 ALMS1 G>A	2	73678389	73678389	G	A	ALMS1	c.4738G>A	NM_015120.4	NP_055935.4:p.(Val1580Ile)	NC_000002.11:g.73678389G>A	VUS	1 lab	00929b7abe
9:130251743 LRSAM1 G>A	9	130251743	130251743	G	A	LRSAM1	c.1368G>A	NM_138361.5	NP_612370.3:p.(Ala456=)	NC_000009.11:g.130251743G>A	(Likely) benign	1 lab	009412a0ad
2:21235235 APOB C>T	2	21235235	21235235	C	T	APOB	c.4505G>A	NM_000384.3	NP_000375.3:p.(Gly1502Asp)	NC_000002.11:g.21235235C>T	(Likely) benign	1 lab	0094daf7fb
16:70928357 HYDIN C>T	16	70928357	70928357	C	T	HYDIN	c.9243G>A	NM_001270974.2	NP_001257903.1:p.(Ala3081=)	NC_000016.9:g.70928357C>T	(Likely) benign	1 lab	0095626fd5
X:147011547 FMR1 A>C	X	147011547	147011547	A	C	FMR1	c.500A>C	NM_002024.6	NP_002015.1:p.(Gln167Pro)	NC_000023.10:g.147011547A>C	VUS	1 lab	00958cb810
21:44483147 CBS C>T	21	44483147	44483147	C	T	CBS	c.870G>A	NM_000071.3	NP_000062.1:p.(Pro290=)	NC_000021.8:g.44483147C>T	(Likely) benign	1 lab	0097429287
14:29236702 FOXG1 C>T	14	29236702	29236702	C	T	FOXG1	c.217C>T	NM_005249.5	NP_005240.3:p.(Gln73Ter)	NC_000014.8:g.29236702C>T	(Likely) pathogenic	1 lab	0097c517c1
9:137619096 COL5A1 G>A	9	137619096	137619096	G	A	COL5A1	c.655-16G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137619096G>A	(Likely) benign	1 lab	0098008d08
6:75865481 COL12A1 C>T	6	75865481	75865481	C	T	COL12A1	c.3340G>A	NM_004370.6	NP_004361.3:p.(Val1114Met)	NC_000006.11:g.75865481C>T	VUS	1 lab	0099589c5a
10:61840327 ANK3 T>C	10	61840327	61840327	T	C	ANK3	c.4400A>G	NM_020987.5	NP_066267.2:p.(Lys1467Arg)	NC_000010.10:g.61840327T>C	(Likely) benign	1 lab	009a351db4
11:116661694 APOA5 C>T	11	116661694	116661694	C	T	APOA5	c.251G>A	NM_052968.5	NP_443200.2:p.(Arg84Gln)	NC_000011.9:g.116661694C>T	VUS	1 lab	009c4423b7
5:112179297 APC C>G	5	112179297	112179297	C	G	APC	c.8006C>G	NM_000038.6	NP_000029.2:p.(Pro2669Arg)	NC_000005.9:g.112179297C>G	VUS	1 lab	00a0727366
11:47361298 MYBPC3 G>A	11	47361298	47361298	G	A	MYBPC3	c.1971C>T	NM_000256.3	NP_000247.2:p.(Asp657=)	NC_000011.9:g.47361298G>A	(Likely) benign	1 lab	00a8ab1f96
2:21241961 APOB T>C	2	21241961	21241961	T	C	APOB	c.3024A>G	NM_000384.3	NP_000375.3:p.(Thr1008=)	NC_000002.11:g.21241961T>C	(Likely) benign	1 lab	00aa59880b
6:112575203 LAMA4 C>T	6	112575203	112575203	C	T	LAMA4	c.150G>A	NM_001105206.3	NP_001098676.2:p.(Thr50=)	NC_000006.11:g.112575203C>T	(Likely) benign	1 lab	00adb17ef3
17:41245337 BRCA1 TGTTTCTA>T	17	41245337	41245350	TGTTTCTA	T	BRCA1	c.2204_2210del	NM_007294.4	NP_009225.1:p.(Leu735GlnfsTer16)	NC_000017.10:g.41245344_41245350del	(Likely) pathogenic	1 lab	00b1bfc494
8:19816906 LPL G>A	8	19816906	19816906	G	A	LPL	c.1139+15G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816906G>A	(Likely) benign	1 lab	00b38dcd48
3:121980788 CASR C>T	3	121980788	121980788	C	T	CASR	c.906C>T	NM_001178065.2	NP_001171536.2:p.(Ser302=)	NC_000003.11:g.121980788C>T	(Likely) benign	1 lab	00b56f11eb
13:30368797 MISSING Ref too long to show for this DEL>C	13	30368797	30488337	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.30368798_30488337del	VUS	1 lab	00b701dbe2
15:22698520 MISSING Ref too long to show for this DEL>T	15	22698520	23300287	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22698522_23300287del	(Likely) pathogenic	1 lab	00b7286abd
1:236907963 ACTN2 G>A	1	236907963	236907963	G	A	ACTN2	c.669G>A	NM_001278344.2	NP_001265273.1:p.(Ser223=)	NC_000001.10:g.236907963G>A	(Likely) benign	1 lab	00baa9ee77
3:98311784 CPOX C>T	3	98311784	98311784	C	T	CPOX	c.556+9G>A	NM_000097.7	NP_000088.3:p.?	NC_000003.11:g.98311784C>T	(Likely) benign	1 lab	00bda49b03
6:79680570 PHIP G>T	6	79680570	79680570	G	T	PHIP	c.2925C>A	NM_017934.7	NP_060404.4:p.(Val975=)	NC_000006.11:g.79680570G>T	(Likely) benign	1 lab	00be721dd2
X:153607910 EMD G>T	X	153607910	153607910	G	T	EMD	c.66G>T	NM_000117.3	NP_000108.1:p.(Pro22=)	NC_000023.10:g.153607910G>T	(Likely) benign	1 lab	00beff338b
11:116661115 APOA5 A>G	11	116661115	116661115	A	G	APOA5	c.830T>C	NM_052968.5	NP_443200.2:p.(Leu277Pro)	NC_000011.9:g.116661115A>G	VUS	1 lab	00c0181758
8:19818771 LPL A>G	8	19818771	19818771	A	G	LPL	c.1322+177A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818771A>G	(Likely) benign	1 lab	00c090d255
X:70444137 GJB1 A>G	X	70444137	70444137	A	G	GJB1	c.580A>G	NM_000166.6	NP_000157.1:p.(Met194Val)	NC_000023.10:g.70444137A>G	(Likely) pathogenic	1 lab	00c2453ae1
17:7916488 GUCY2D C>A	17	7916488	7916488	C	A	GUCY2D	c.2181C>A	NM_000180.4	NP_000171.1:p.(Gly727=)	NC_000017.10:g.7916488C>A	(Likely) benign	1 lab	00c3264100
17:48275131 COL1A1 G>A	17	48275131	48275131	G	A	COL1A1	c.658C>T	NM_000088.4	NP_000079.2:p.(Arg220Ter)	NC_000017.10:g.48275131G>A	(Likely) pathogenic	1 lab	00c6cd7071
8:145024398 PLEC G>C	8	145024398	145024398	G	C	PLEC	c.477C>G	NM_201380.4	NP_958782.1:p.(Thr159=)	NC_000008.10:g.145024398G>C	(Likely) benign	1 lab	00c9fcf5a2
12:125294828 SCARB1 A>C	12	125294828	125294828	A	C	SCARB1	c.734T>G	NM_001367981.1	NP_001354910.1:p.(Phe245Cys)	NC_000012.11:g.125294828A>C	VUS	1 lab	00ce4737b3
15:85401670 ALPK3 C>T	15	85401670	85401670	C	T	ALPK3	c.3701C>T	NM_020778.5	NP_065829.4:p.(Ala1234Val)	NC_000015.9:g.85401670C>T	VUS	1 lab	00cfefa1b0
7:13407585 MISSING Ref too long to show for this DEL>C	7	13407585	19954836	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.13407587_19954836del	(Likely) pathogenic	1 lab	00d2c059be
10:68940106 CTNNA3 AGAGCCTG>A	10	68940106	68940114	AGAGCCTG	A	CTNNA3	c.1009_1015del	NM_013266.4	NP_037398.2:p.(Gln337PhefsTer9)	NC_000010.10:g.68940108_68940114del	VUS	1 lab	00d886f1c2
6:75858116 COL12A1 A>G	6	75858116	75858116	A	G	COL12A1	c.4245T>C	NM_004370.6	NP_004361.3:p.(Tyr1415=)	NC_000006.11:g.75858116A>G	(Likely) benign	1 lab	00d9245cf4
2:241724401 KIF1A C>T	2	241724401	241724401	C	T	KIF1A	c.720+5G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241724401C>T	(Likely) benign	1 lab	00dd56e804
X:41333864 NYX T>G	X	41333864	41333864	T	G	NYX	c.1158T>G	NM_022567.2	NP_072089.1:p.(Cys386Trp)	NC_000023.10:g.41333864T>G	VUS	1 lab	00de572c40
8:18622919 PSD3 Ref too long to show for this DEL>A	8	18622919	18719366	Ref too long to show for this DEL	A	PSD3	c.1634+5819_2172+39del	NM_015310.4	NP_056125.3:p.?	NC_000008.10:g.18622921_18719366del	VUS	1 lab	00df0cc077
1:76654156 ST6GALNAC3 Ref too long to show for this DEL>T	1	76654156	77037260	Ref too long to show for this DEL	T	ST6GALNAC3	c.18+113591_624-55877del	NM_152996.4	NP_694541.2:p.?	NC_000001.10:g.76654160_77037260del	VUS	1 lab	00df4bdd88
1:66075989 LEPR A>T	1	66075989	66075989	A	T	LEPR	c.1995+10A>T	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66075989A>T	(Likely) benign	1 lab	00dfd59e0f
8:110505885 PKHD1L1 A>G	8	110505885	110505885	A	G	PKHD1L1	c.10237-5A>G	NM_177531.6	NP_803875.2:p.?	NC_000008.10:g.110505885A>G	(Likely) benign	1 lab	00e03f290c
17:65346417 PSMD12 A>AT	17	65346417	65346418	A	AT	PSMD12	c.155dup	NM_001316341.2	NP_001303270.1:p.(Tyr52Ter)	NC_000017.10:g.65346418dup	(Likely) pathogenic	1 lab	00e91c7627
8:19796773 LPL G>T	8	19796773	19796773	G	T	LPL	c.-179G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796773G>T	VUS	1 lab	00ec02871a
15:58853156 LIPC A>C	15	58853156	58853156	A	C	LIPC	c.1145A>C	NM_000236.3	NP_000227.2:p.(Lys382Thr)	NC_000015.9:g.58853156A>C	(Likely) benign	1 lab	00ec1c07ea
7:91570408 AKAP9 G>T	7	91570408	91570408	G	T	AKAP9	c.-6G>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91570408G>T	(Likely) benign	1 lab	00ec531759
9:32989908 APTX A>G	9	32989908	32989908	A	G	APTX	c.-4-15T>C	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32989908A>G	(Likely) benign	1 lab	00f0121a6e
1:147380098 GJA8 TTCCTGGGGAACA>T	1	147380098	147380112	TTCCTGGGGAACA	T	GJA8	c.19_30del	NM_005267.5	NP_005258.2:p.(Gly8_Leu11del)	NC_000001.10:g.147380101_147380112del	VUS	1 lab	00f0443f03
5:127615957 FBN2 A>C	5	127615957	127615957	A	C	FBN2	c.7065T>G	NM_001999.4	NP_001990.2:p.(Val2355=)	NC_000005.9:g.127615957A>C	(Likely) benign	1 lab	00f35a3e3a
1:156105094 LMNA C>A	1	156105094	156105094	C	A	LMNA	c.927C>A	NM_170707.4	NP_733821.1:p.(Leu309=)	NC_000001.10:g.156105094C>A	(Likely) benign	1 lab	00f92920f2
19:33793297 CEBPA C>T	19	33793297	33793297	C	T	CEBPA	c.24G>A	NM_004364.5	NP_004355.2:p.(Glu8=)	NC_000019.9:g.33793297C>T	(Likely) benign	1 lab	00f9840b3e
14:102483596 DYNC1H1 T>C	14	102483596	102483596	T	C	DYNC1H1	c.8020T>C	NM_001376.5	NP_001367.2:p.(Tyr2674His)	NC_000014.8:g.102483596T>C	VUS	1 lab	00fa067e3f
19:11215918 LDLR CGA>C	19	11215918	11215921	CGA	C	LDLR	c.338_339del	NM_000527.5	NP_000518.1:p.(Glu113ValfsTer16)	NC_000019.9:g.11215920_11215921del	(Likely) pathogenic	1 lab	00fa0dac6e
12:18506797 PIK3C2G Ref too long to show for this DEL>G	12	18506797	18602594	Ref too long to show for this DEL	G	PIK3C2G	c.1625+7028_2504+25621del	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18506798_18602594del	VUS	1 lab	00ff0aafef
1:55512415 PCSK9 G>A	1	55512415	55512415	G	A	PCSK9	c.523+96G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512415G>A	VUS	1 lab	0103c22549
2:21235453 APOB T>C	2	21235453	21235453	T	C	APOB	c.4287A>G	NM_000384.3	NP_000375.3:p.(Lys1429=)	NC_000002.11:g.21235453T>C	(Likely) benign	1 lab	0103e4036b
4:183714974 TENM3 C>T	4	183714974	183714974	C	T	TENM3	c.7149C>T	NM_001080477.4	NP_001073946.1:p.(Asn2383=)	NC_000004.11:g.183714974C>T	(Likely) benign	1 lab	01056700a0
9:107589401 ABCA1 A>G	9	107589401	107589401	A	G	ABCA1	c.2165T>C	NM_005502.4	NP_005493.2:p.(Leu722Pro)	NC_000009.11:g.107589401A>G	(Likely) pathogenic	1 lab	011b974f2a
3:193380725 OPA1 C>T	3	193380725	193380725	C	T	OPA1	c.2635C>T	NM_130837.3	NP_570850.2:p.(Arg879Ter)	NC_000003.11:g.193380725C>T	(Likely) pathogenic	1 lab	0108c09099
11:76834722 CAPN5 G>T	11	76834722	76834722	G	T	CAPN5	c.1741-12G>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76834722G>T	(Likely) benign	1 lab	010a77445e
13:103518162 ERCC5 C>A	13	103518162	103518162	C	A	ERCC5	c.2100C>A	NM_000123.4	NP_000114.3:p.(Leu700=)	NC_000013.10:g.103518162C>A	(Likely) benign	1 lab	010b1e59c3
18:45374828 SMAD2 A>C	18	45374828	45374828	A	C	SMAD2	c.997+18T>G	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45374828A>C	(Likely) benign	1 lab	0110cf8ce2
18:47102187 LIPG ATTTCT>A	18	47102187	47102205	ATTTCT	A	LIPG	c.793+241_793+245del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47102201_47102205del	(Likely) benign	1 lab	0110dd6c92
2:37599493 QPCT C>T	2	37599493	37599493	C	T	QPCT	c.824-6C>T	NM_012413.4	NP_036545.1:p.?	NC_000002.11:g.37599493C>T	(Likely) benign	1 lab	01124fafcb
X:153608099 EMD G>A	X	153608099	153608099	G	A	EMD	c.132G>A	NM_000117.3	NP_000108.1:p.(Gln44=)	NC_000023.10:g.153608099G>A	(Likely) benign	1 lab	011385ec79
22:31337490 MORC2 G>A	22	31337490	31337490	G	A	MORC2	c.568C>T	NM_014941.3	NP_055756.1:p.(Arg190Trp)	NC_000022.10:g.31337490G>A	(Likely) pathogenic	1 lab	011398b3da
1:237586384 RYR2 T>C	1	237586384	237586384	T	C	RYR2	c.849-8T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237586384T>C	(Likely) benign	1 lab	011990a306
16:67977696 LCAT A>C	16	67977696	67977696	A	C	LCAT	c.154+155T>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977696A>C	(Likely) benign	1 lab	0119a96e1c
X:153490420 OPN1MW2 G>A	X	153490420	153490420	G	A	OPN1MW2	c.156G>A	NM_001048181.2	NP_001041646.1:p.(Val52=)	NC_000023.10:g.153490420G>A	(Likely) benign	1 lab	011a6d5c6a
18:3444318 MISSING Ref too long to show for this DEL>A	18	3444318	3460915	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.3444319_3460915del	(Likely) pathogenic	1 lab	011a74ec52
13:100421205 MISSING A>Alt too long to show for this DUP	13	100421205	100845093	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.100421206_100845093dup	VUS	1 lab	026555d4b0
22:50662986 TUBGCP6 G>A	22	50662986	50662986	G	A	TUBGCP6	c.2019C>T	NM_020461.4	NP_065194.3:p.(Ile673=)	NC_000022.10:g.50662986G>A	(Likely) benign	1 lab	011f26c8ce
2:50599461 NRXN1 Ref too long to show for this DEL>T	2	50599461	51111281	Ref too long to show for this DEL	T	NRXN1	c.832+37726_3364+93118del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50599462_51111281del	(Likely) pathogenic	1 lab	0120886d8b
3:164912214 MISSING G>Alt too long to show for this DUP	3	164912214	164939983	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.164912215_164939983dup	VUS	1 lab	01235d600d
X:30264176 MISSING Ref too long to show for this DEL>A	X	30264176	30301303	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.30264177_30301303del	(Likely) pathogenic	1 lab	012ad4766e
1:54354370 MISSING Ref too long to show for this DEL>C	1	54354370	54513115	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.54354375_54513115del	VUS	1 lab	012b4f60c0
1:156830883 NTRK1 G>C	1	156830883	156830883	G	C	NTRK1	c.157G>C	NM_002529.4	NP_002520.2:p.(Asp53His)	NC_000001.10:g.156830883G>C	(Likely) benign	1 lab	012d852b80
8:144295729 GPIHBP1 G>A	8	144295729	144295729	G	A	GPIHBP1	c.85G>A	NM_178172.6	NP_835466.2:p.(Glu29Lys)	NC_000008.10:g.144295729G>A	VUS	1 lab	01326e7b14
2:219081983 ARPC2 T>TTGGG	2	219081983	219081997	T	TTGGG	ARPC2	c.-9+17_-9+20dup	NM_152862.3	NP_690601.1:p.?	NC_000002.11:g.219081994_219081997dup	(Likely) benign	1 lab	01329b495d
1:150463150 TARS2 G>GA	1	150463150	150463151	G	GA	TARS2	c.461_462insA	NM_025150.5	NP_079426.2:p.(Pro155SerfsTer10)	NC_000001.10:g.150463150_150463151insA	(Likely) pathogenic	1 lab	0132a17e72
2:230723771 TRIP12 A>C	2	230723771	230723771	A	C	TRIP12	c.744T>G	NM_001348325.2	NP_001335254.1:p.(Ser248=)	NC_000002.11:g.230723771A>C	(Likely) benign	1 lab	0134a13fbb
2:21231724 APOB G>T	2	21231724	21231724	G	T	APOB	c.8016C>A	NM_000384.3	NP_000375.3:p.(Ile2672=)	NC_000002.11:g.21231724G>T	(Likely) benign	1 lab	013bc5a1f1
4:114263082 ANK2 C>CA	4	114263082	114263087	C	CA	ANK2	c.4122+15dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114263087dup	(Likely) benign	1 lab	013c5814c1
9:72131686 APBA1 G>A	9	72131686	72131686	G	A	APBA1	c.441C>T	NM_001163.4	NP_001154.2:p.(Pro147=)	NC_000009.11:g.72131686G>A	(Likely) benign	1 lab	01493901ad
8:121222046 COL14A1 G>A	8	121222046	121222046	G	A	COL14A1	c.1373G>A	NM_001384947.1	NP_001371876.1:p.(Ser458Asn)	NC_000008.10:g.121222046G>A	(Likely) benign	1 lab	0149661f36
7:128493043 FLNC A>G	7	128493043	128493043	A	G	FLNC	c.6166A>G	NM_001458.5	NP_001449.3:p.(Thr2056Ala)	NC_000007.13:g.128493043A>G	VUS	1 lab	014a6e3600
4:120079204 MYOZ2 G>A	4	120079204	120079204	G	A	MYOZ2	c.274G>A	NM_016599.5	NP_057683.1:p.(Val92Met)	NC_000004.11:g.120079204G>A	VUS	1 lab	014b9f0e48
12:48383079 COL2A1 C>T	12	48383079	48383079	C	T	COL2A1	c.1069-15G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48383079C>T	(Likely) benign	1 lab	01507731c8
13:103528121 ERCC5 G>A	13	103528121	103528121	G	A	ERCC5	c.3429G>A	NM_000123.4	NP_000114.3:p.(Ala1143=)	NC_000013.10:g.103528121G>A	(Likely) benign	1 lab	015280c5f0
19:36398457 TYROBP C>T	19	36398457	36398457	C	T	TYROBP	c.120G>A	NM_003332.4	NP_003323.1:p.(Pro40=)	NC_000019.9:g.36398457C>T	(Likely) benign	1 lab	0153527eef
2:179477578 TTN G>C	2	179477578	179477578	G	C	TTN	c.49870C>G	NM_001267550.2	NP_001254479.2:p.(Arg16624Gly)	NC_000002.11:g.179477578G>C	VUS	1 lab	015387f033
12:125323593 SCARB1 A>G	12	125323593	125323593	A	G	SCARB1	c.127-21340T>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125323593A>G	(Likely) benign	1 lab	0154c2b5f8
3:123471545 MYLK T>A	3	123471545	123471545	T	A	MYLK	c.166-160A>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123471545T>A	(Likely) benign	1 lab	01573a8181
16:57014610 CETP T>C	16	57014610	57014610	T	C	CETP	c.1147-460T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57014610T>C	(Likely) benign	1 lab	01622fac7e
5:178408807 GRM6 A>C	5	178408807	178408807	A	C	GRM6	c.2485T>G	NM_000843.4	NP_000834.2:p.(Ser829Ala)	NC_000005.9:g.178408807A>C	VUS	1 lab	01633b9215
12:21392079 SLCO1B1 C>T	12	21392079	21392079	C	T	SLCO1B1	c.2032C>T	NM_006446.5	NP_006437.3:p.(His678Tyr)	NC_000012.11:g.21392079C>T	(Likely) benign	1 lab	01658ac93f
22:41573047 EP300 G>T	22	41573047	41573047	G	T	EP300	c.5332G>T	NM_001429.4	NP_001420.2:p.(Gly1778Trp)	NC_000022.10:g.41573047G>T	VUS	1 lab	01667b4b94
13:35745476 NBEA G>T	13	35745476	35745476	G	T	NBEA	c.4310G>T	NM_015678.5	NP_056493.3:p.(Arg1437Leu)	NC_000013.10:g.35745476G>T	(Likely) benign	1 lab	0167a5cd8d
7:128495346 FLNC G>A	7	128495346	128495346	G	A	FLNC	c.7229G>A	NM_001458.5	NP_001449.3:p.(Arg2410His)	NC_000007.13:g.128495346G>A	VUS	1 lab	016aa73b8f
16:46766489 MYLK3 G>C	16	46766489	46766489	G	C	MYLK3	c.1093C>G	NM_182493.3	NP_872299.2:p.(Pro365Ala)	NC_000016.9:g.46766489G>C	VUS	1 lab	016fe8990e
6:56481040 DST G>C	6	56481040	56481040	G	C	DST	c.7225C>G	NM_001723.7	NP_001714.1:p.(Gln2409Glu)	NC_000006.11:g.56481040G>C	VUS	1 lab	01719ba69c
15:48429080 SLC24A5 C>T	15	48429080	48429080	C	T	SLC24A5	c.791C>T	NM_205850.3	NP_995322.1:p.(Thr264Ile)	NC_000015.9:g.48429080C>T	VUS	1 lab	0171f99b7a
18:29125838 DSG2 G>C	18	29125838	29125838	G	C	DSG2	c.2489G>C	NM_001943.5	NP_001934.2:p.(Gly830Ala)	NC_000018.9:g.29125838G>C	VUS	1 lab	01728782f1
18:19371453 MIB1 T>TA	18	19371453	19371454	T	TA	MIB1	c.1028dup	NM_020774.4	NP_065825.1:p.(Tyr343Ter)	NC_000018.9:g.19371454dup	VUS	1 lab	0176836a79
12:7242710 C1R G>A	12	7242710	7242710	G	A	C1R	c.366C>T	NM_001733.7	NP_001724.4:p.(Asn122=)	NC_000012.11:g.7242710G>A	(Likely) benign	1 lab	017a5235c1
13:32890659 BRCA2 A>G	13	32890659	32890659	A	G	BRCA2	c.62A>G	NM_000059.4	NP_000050.3:p.(Lys21Arg)	NC_000013.10:g.32890659A>G	(Likely) benign	1 lab	017ab30b3b
3:128514199 RAB7A T>C	3	128514199	128514199	T	C	RAB7A	c.-8-4T>C	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128514199T>C	(Likely) benign	1 lab	018102405f
1:25889571 LDLRAP1 G>A	1	25889571	25889571	G	A	LDLRAP1	c.543G>A	NM_015627.3	NP_056442.2:p.(Lys181=)	NC_000001.10:g.25889571G>A	(Likely) benign	1 lab	0183371f32
3:38797305 SCN10A A>G	3	38797305	38797305	A	G	SCN10A	c.1435T>C	NM_006514.4	NP_006505.4:p.(Ser479Pro)	NC_000003.11:g.38797305A>G	VUS	1 lab	018d04e342
2:51153051 MISSING Ref too long to show for this DEL>G	2	51153051	51279307	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.51153054_51279307del	VUS	1 lab	018e14faaa
15:83214011 MISSING Ref too long to show for this DEL>T	15	83214011	84812693	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.83214012_84812693del	(Likely) pathogenic	1 lab	0191cfb70b
X:84528768 MISSING T>Alt too long to show for this DUP	X	84528768	84807414	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.84528769_84807414dup	VUS	1 lab	0197b4f2f6
9:139090883 LHX3 C>T	9	139090883	139090883	C	T	LHX3	c.444G>A	NM_001363746.1	NP_001350675.1:p.(Arg148=)	NC_000009.11:g.139090883C>T	(Likely) benign	1 lab	0197caa0e0
8:10468988 RP1L1 C>T	8	10468988	10468988	C	T	RP1L1	c.2620G>A	NM_178857.6	NP_849188.4:p.(Gly874Ser)	NC_000008.10:g.10468988C>T	(Likely) benign	1 lab	01987c10bf
19:11231131 LDLR G>T	19	11231131	11231131	G	T	LDLR	c.2073G>T	NM_000527.5	NP_000518.1:p.(Ser691=)	NC_000019.9:g.11231131G>T	(Likely) benign	1 lab	019899d62f
14:81315051 CEP128 Ref too long to show for this DEL>A	14	81315051	81347906	Ref too long to show for this DEL	A	CEP128	c.645+14156_763-7940del	NM_152446.5	NP_689659.2:p.?	NC_000014.8:g.81315052_81347906del	VUS	1 lab	0199ddae9a
2:179429251 TTN G>T	2	179429251	179429251	G	T	TTN	c.81608C>A	NM_001267550.2	NP_001254479.2:p.(Thr27203Lys)	NC_000002.11:g.179429251G>T	VUS	1 lab	019e92a4e9
X:76864017 ATRX T>Alt too long to show for this DUP	X	76864017	76872845	T	Alt too long to show for this DUP	ATRX	c.5449-647_5567-7985dup	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76864018_76872845dup	VUS	1 lab	01a22d9dc3
X:23118568 MISSING Ref too long to show for this DEL>A	X	23118568	23406507	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.23118569_23406507del	(Likely) pathogenic	1 lab	01a2803d1e
9:140695428 EHMT1 C>T	9	140695428	140695428	C	T	EHMT1	c.2704C>T	NM_024757.5	NP_079033.4:p.(Arg902Ter)	NC_000009.11:g.140695428C>T	(Likely) pathogenic	1 lab	01a5327df2
4:41748130 PHOX2B G>C	4	41748130	41748130	G	C	PHOX2B	c.639C>G	NM_003924.4	NP_003915.2:p.(Gly213=)	NC_000004.11:g.41748130G>C	(Likely) benign	1 lab	01a727e950
3:195515318 MUC4 T>C	3	195515318	195515318	T	C	MUC4	c.3133A>G	NM_018406.7	NP_060876.5:p.(Ser1045Gly)	NC_000003.11:g.195515318T>C	(Likely) benign	1 lab	01a76bbcb8
2:182413400 CERKL GACTT>G	2	182413400	182413409	GACTT	G	CERKL	c.1151+3_1151+6del	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182413406_182413409del	(Likely) pathogenic	1 lab	01ab12be3d
1:180275427 ACBD6 Ref too long to show for this DEL>A	1	180275427	180302491	Ref too long to show for this DEL	A	ACBD6	c.664-18632_694+8399del	NM_032360.4	NP_115736.1:p.?	NC_000001.10:g.180275430_180302491del	VUS	1 lab	01abb809cb
8:144295185 GPIHBP1 G>A	8	144295185	144295185	G	A	GPIHBP1	c.43G>A	NM_178172.6	NP_835466.2:p.(Gly15Arg)	NC_000008.10:g.144295185G>A	VUS	1 lab	01ae3b32c0
6:32489743 HLA-DRB5 C>CTG	6	32489743	32489744	C	CTG	HLA-DRB5	c.308_309insCA	NM_002125.4	NP_002116.2:p.(Val104ArgfsTer26)	NC_000006.11:g.32489743_32489744insTG	(Likely) benign	1 lab	01ae6d5f95
6:7569551 DSP C>T	6	7569551	7569551	C	T	DSP	c.1552C>T	NM_004415.4	NP_004406.2:p.(Leu518=)	NC_000006.11:g.7569551C>T	(Likely) benign	1 lab	01b264ce4f
8:144295213 GPIHBP1 C>T	8	144295213	144295213	C	T	GPIHBP1	c.52+19C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295213C>T	(Likely) benign	1 lab	01b33ce7d7
2:219674379 CYP27A1 C>T	2	219674379	219674379	C	T	CYP27A1	c.335C>T	NM_000784.4	NP_000775.1:p.(Pro112Leu)	NC_000002.11:g.219674379C>T	VUS	1 lab	01b3abacb4
1:161277110 MPZ C>A	1	161277110	161277110	C	A	MPZ	c.172G>T	NM_000530.8	NP_000521.2:p.(Val58Phe)	NC_000001.10:g.161277110C>A	(Likely) pathogenic	1 lab	01b4134e06
14:78018515 SPTLC2 C>T	14	78018515	78018515	C	T	SPTLC2	c.1227G>A	NM_004863.4	NP_004854.1:p.(Thr409=)	NC_000014.8:g.78018515C>T	(Likely) benign	1 lab	01b7a75ba4
6:32011235 TNXB C>T	6	32011235	32011235	C	T	TNXB	c.11623G>A	NM_019105.8	NP_061978.6:p.(Val3875Ile)	NC_000006.11:g.32011235C>T	(Likely) benign	1 lab	01ba8e1300
7:128490774 FLNC A>G	7	128490774	128490774	A	G	FLNC	c.5399-83A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490774A>G	(Likely) benign	1 lab	01bccb8e05
10:89717594 PTEN G>A	10	89717594	89717594	G	A	PTEN	c.635-16G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89717594G>A	(Likely) benign	1 lab	01be599229
2:179428118 TTN C>A	2	179428118	179428118	C	A	TTN	c.82741G>T	NM_001267550.2	NP_001254479.2:p.(Asp27581Tyr)	NC_000002.11:g.179428118C>A	VUS	1 lab	01c693ba4b
12:124330189 DNAH10 C>T	12	124330189	124330189	C	T	DNAH10	c.5049C>T	NM_207437.3	NP_997320.2:p.(Ala1683=)	NC_000012.11:g.124330189C>T	(Likely) benign	1 lab	01c733709a
22:38565333 PLA2G6 G>A	22	38565333	38565333	G	A	PLA2G6	c.101C>T	NM_001349864.2	NP_001336793.1:p.(Ser34Leu)	NC_000022.10:g.38565333G>A	VUS	1 lab	01cc7a4c0d
10:69970183 MYPN C>T	10	69970183	69970183	C	T	MYPN	c.3934C>T	NM_032578.4	NP_115967.2:p.(Arg1312Trp)	NC_000010.10:g.69970183C>T	(Likely) benign	1 lab	01d0eab186
8:61654297 CHD7 C>T	8	61654297	61654297	C	T	CHD7	c.306C>T	NM_017780.4	NP_060250.2:p.(His102=)	NC_000008.10:g.61654297C>T	(Likely) benign	1 lab	01d1dd4c16
2:219677112 CYP27A1 T>G	2	219677112	219677112	T	G	CYP27A1	c.614T>G	NM_000784.4	NP_000775.1:p.(Met205Arg)	NC_000002.11:g.219677112T>G	VUS	1 lab	01d4e0e6da
7:143036379 CLCN1 ATACCCTGCGGAGGC>A	7	143036379	143036394	ATACCCTGCGGAGGC	A	CLCN1	c.1437_1450del	NM_000083.3	NP_000074.3:p.(Pro480HisfsTer24)	NC_000007.13:g.143036381_143036394del	(Likely) pathogenic	1 lab	01d541172e
15:48777209 FBN1 T>A	15	48777209	48777209	T	A	FBN1	c.3712+362A>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48777209T>A	(Likely) benign	1 lab	01dc34b25a
10:55582418 PCDH15 T>C	10	55582418	55582418	T	C	PCDH15	c.5089A>G	NM_001142763.2	NP_001136235.1:p.(Ile1697Val)	NC_000010.10:g.55582418T>C	(Likely) benign	1 lab	01dd046e0e
1:12018717 PLOD1 C>T	1	12018717	12018717	C	T	PLOD1	c.975+13C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12018717C>T	(Likely) benign	1 lab	01deb86c44
20:56227151 PMEPA1 G>A	20	56227151	56227151	G	A	PMEPA1	c.822C>T	NM_020182.5	NP_064567.2:p.(Ile274=)	NC_000020.10:g.56227151G>A	(Likely) benign	1 lab	01dfcaab73
2:220500084 SLC4A3 C>T	2	220500084	220500084	C	T	SLC4A3	c.1919C>T	NM_001326559.2	NP_001313488.2:p.(Pro640Leu)	NC_000002.11:g.220500084C>T	VUS	1 lab	01e0404853
9:35092411 PIGO C>G	9	35092411	35092411	C	G	PIGO	c.1473G>C	NM_032634.4	NP_116023.2:p.(Leu491=)	NC_000009.11:g.35092411C>G	(Likely) benign	1 lab	01e04a93d6
4:659031 PDE6B C>A	4	659031	659031	C	A	PDE6B	c.2194-13C>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.659031C>A	(Likely) benign	1 lab	01e0d59fce
7:100017454 ZCWPW1 G>A	7	100017454	100017454	G	A	ZCWPW1	c.81C>T	NM_001386017.1	NP_001372946.1:p.(Tyr27=)	NC_000007.13:g.100017454G>A	(Likely) benign	1 lab	01e67754af
1:8419976 RERE C>T	1	8419976	8419976	C	T	RERE	c.3466G>A	NM_012102.4	NP_036234.3:p.(Gly1156Arg)	NC_000001.10:g.8419976C>T	VUS	1 lab	03c2ae94bc
2:21235225 APOB A>G	2	21235225	21235225	A	G	APOB	c.4515T>C	NM_000384.3	NP_000375.3:p.(Cys1505=)	NC_000002.11:g.21235225A>G	(Likely) benign	1 lab	01e8f26766
7:91632096 AKAP9 G>A	7	91632096	91632096	G	A	AKAP9	c.2865G>A	NM_005751.5	NP_005742.4:p.(Leu955=)	NC_000007.13:g.91632096G>A	(Likely) benign	1 lab	01ec588ea0
X:37221173 MISSING A>Alt too long to show for this DUP	X	37221173	37536959	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37221176_37536959dup	VUS	1 lab	01ec74a9fa
8:144996408 PLEC T>G	8	144996408	144996408	T	G	PLEC	c.7992A>C	NM_201380.4	NP_958782.1:p.(Ala2664=)	NC_000008.10:g.144996408T>G	(Likely) benign	1 lab	01ecd70d63
1:231094050 TTC13 GAAAA>G	1	231094050	231094066	GAAAA	G	TTC13	c.367-9_367-6del	NM_024525.5	NP_078801.3:p.?	NC_000001.10:g.231094063_231094066del	(Likely) benign	1 lab	01eecb90e4
1:236917325 ACTN2 C>T	1	236917325	236917325	C	T	ACTN2	c.1294C>T	NM_001278344.2	NP_001265273.1:p.(Arg432Cys)	NC_000001.10:g.236917325C>T	VUS	1 lab	01efbeae75
16:83948656 MLYCD G>T	16	83948656	83948656	G	T	MLYCD	c.1044G>T	NM_012213.3	NP_036345.2:p.(Glu348Asp)	NC_000016.9:g.83948656G>T	(Likely) benign	1 lab	01f17549c2
19:8196508 FBN3 G>C	19	8196508	8196508	G	C	FBN3	c.1920C>G	NM_032447.5	NP_115823.3:p.(Ser640=)	NC_000019.9:g.8196508G>C	(Likely) benign	1 lab	01f19abe50
12:64891417 TBK1 TG>T	12	64891417	64891418	TG	T	TBK1	c.1960-10del	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891418del	(Likely) benign	1 lab	01f59184b3
15:72978578 BBS4 G>T	15	72978578	72978578	G	T	BBS4	c.10G>T	NM_033028.5	NP_149017.2:p.(Glu4Ter)	NC_000015.9:g.72978578G>T	(Likely) pathogenic	1 lab	01f591b893
18:25727746 CDH2 C>T	18	25727746	25727746	C	T	CDH2	c.63G>A	NM_001792.5	NP_001783.2:p.(Ala21=)	NC_000018.9:g.25727746C>T	(Likely) benign	1 lab	01f65fde64
10:27702460 PTCHD3 G>A	10	27702460	27702460	G	A	PTCHD3	c.720C>T	NM_001034842.4	NP_001030014.2:p.(Arg240=)	NC_000010.10:g.27702460G>A	(Likely) benign	1 lab	01f9b10553
17:70120297 SOX9 G>GCCCATCA	17	70120297	70120307	G	GCCCATCA	SOX9	c.1303_1309dup	NM_000346.4	NP_000337.1:p.(Arg437HisfsTer143)	NC_000017.10:g.70120301_70120307dup	(Likely) pathogenic	1 lab	01f9fbcac7
3:49405927 RHOA G>A	3	49405927	49405927	G	A	RHOA	c.211C>T	NM_001313943.2	NP_001300872.1:p.(Pro71Ser)	NC_000003.11:g.49405927G>A	VUS	1 lab	01fae908c1
22:27927467 MISSING Ref too long to show for this DEL>A	22	27927467	29623589	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.27927468_29623589del	(Likely) pathogenic	1 lab	01fbf44d94
11:118501693 PHLDB1 A>G	11	118501693	118501693	A	G	PHLDB1	c.1828-231A>G	NM_015157.4	NP_055972.1:p.?	NC_000011.9:g.118501693A>G	(Likely) benign	1 lab	01ff82d58d
2:73675087 ALMS1 T>C	2	73675087	73675087	T	C	ALMS1	c.1436-3T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73675087T>C	(Likely) benign	1 lab	02033a39df
2:21243044 APOB C>G	2	21243044	21243044	C	G	APOB	c.2817-267G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21243044C>G	(Likely) benign	1 lab	02056b5337
16:46764563 MYLK3 C>T	16	46764563	46764563	C	T	MYLK3	c.1510G>A	NM_182493.3	NP_872299.2:p.(Val504Ile)	NC_000016.9:g.46764563C>T	VUS	1 lab	020cbf5d8f
2:179585257 TTN G>A	2	179585257	179585257	G	A	TTN	c.19500C>T	NM_133378.4	NP_596869.4:p.(Asn6500=)	NC_000002.11:g.179585257G>A	(Likely) benign	1 lab	020d19a77a
6:159178266 SYTL3 G>A	6	159178266	159178266	G	A	SYTL3	c.1161G>A	NM_001242394.2	NP_001229323.1:p.(Leu387=)	NC_000006.11:g.159178266G>A	(Likely) benign	1 lab	021100a4f4
7:128491005 FLNC A>AGGGCT	7	128491005	128491009	A	AGGGCT	FLNC	c.5539+11_5539+12insCTGGG	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491008_128491009insCTGGG	(Likely) benign	1 lab	0215c5fa69
2:179435125 TTN C>T	2	179435125	179435125	C	T	TTN	c.75734G>A	NM_001267550.2	NP_001254479.2:p.(Arg25245Lys)	NC_000002.11:g.179435125C>T	VUS	1 lab	02174192ff
16:929606 LMF1 C>A	16	929606	929606	C	A	LMF1	c.462G>T	NM_001352018.2	NP_001338947.1:p.(Ala154=)	NC_000016.9:g.929606C>A	(Likely) benign	1 lab	02183bee94
10:71048496 HK1 C>A	10	71048496	71048496	C	A	HK1	c.-145C>A	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71048496C>A	(Likely) benign	1 lab	1ed9aba64c
8:2855699 CSMD1 T>A	8	2855699	2855699	T	A	CSMD1	c.8211A>T	NM_033225.6	NP_150094.5:p.(Thr2737=)	NC_000008.10:g.2855699T>A	(Likely) benign	1 lab	021c90cc72
2:179599350 TTN G>A	2	179599350	179599350	G	A	TTN	c.15218-17C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179599350G>A	(Likely) benign	1 lab	021ca3cd8a
1:156841526 NTRK1 T>G	1	156841526	156841526	T	G	NTRK1	c.829T>G	NM_002529.4	NP_002520.2:p.(Ser277Ala)	NC_000001.10:g.156841526T>G	VUS	1 lab	021d5d3746
10:54040319 PRKG1 G>T	10	54040319	54040319	G	T	PRKG1	c.1359-230G>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54040319G>T	(Likely) benign	1 lab	021dd77b73
3:53975636 MISSING A>Alt too long to show for this DUP	3	53975636	54426926	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.53975639_54426926dup	VUS	1 lab	022729d1ae
13:97310028 MISSING G>Alt too long to show for this DUP	13	97310028	97592528	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.97310031_97592528dup	VUS	1 lab	022ae8bb9e
X:70443099 GJB1 C>T	X	70443099	70443099	C	T	GJB1	c.-103C>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443099C>T	(Likely) pathogenic	1 lab	03c2c18efc
6:35478750 TULP1 TTCCTCGTCC>T	6	35478750	35478773	TTCCTCGTCC	T	TULP1	c.378_386del	NM_003322.6	NP_003313.3:p.(Asp127_Glu129del)	NC_000006.11:g.35478765_35478773del	VUS	1 lab	022c79f48c
12:125296485 SCARB1 G>A	12	125296485	125296485	G	A	SCARB1	c.657C>T	NM_005505.5	NP_005496.4:p.(Phe219=)	NC_000012.11:g.125296485G>A	(Likely) benign	1 lab	022ec9ce92
1:155264999 PKLR C>T	1	155264999	155264999	C	T	PKLR	c.602G>A	NM_000298.6	NP_000289.1:p.(Trp201Ter)	NC_000001.10:g.155264999C>T	(Likely) pathogenic	1 lab	023151ecd5
2:179399517 TTN G>A	2	179399517	179399517	G	A	TTN	c.94121C>T	NM_133378.4	NP_596869.4:p.(Pro31374Leu)	NC_000002.11:g.179399517G>A	VUS	1 lab	0231ee2a22
7:73470635 ELN T>G	7	73470635	73470635	T	G	ELN	c.1185T>G	NM_000501.4	NP_000492.2:p.(Pro395=)	NC_000007.13:g.73470635T>G	(Likely) benign	1 lab	0232618b36
12:110605652 IFT81 CTTTT>C	12	110605652	110605669	CTTTT	C	IFT81	c.1188+4796_1188+4799del	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110605666_110605669del	(Likely) benign	1 lab	02335e1440
9:27408329 MISSING C>Alt too long to show for this DUP	9	27408329	28039932	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.27408330_28039932dup	VUS	1 lab	023558267d
20:21143813 KIZ AT>A	20	21143813	21143823	AT	A	KIZ	c.1352+23del	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21143823del	(Likely) benign	1 lab	0235c4e22c
16:57016950 CETP C>T	16	57016950	57016950	C	T	CETP	c.1322-288C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57016950C>T	(Likely) benign	1 lab	023664726f
3:38748763 SCN10A G>A	3	38748763	38748763	G	A	SCN10A	c.4386+7C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38748763G>A	(Likely) benign	1 lab	0236b00d8e
9:107589795 ABCA1 C>G	9	107589795	107589795	C	G	ABCA1	c.2116-345G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589795C>G	(Likely) benign	1 lab	0237a54007
19:1221302 STK11 G>A	19	1221302	1221302	G	A	STK11	c.825G>A	NM_000455.5	NP_000446.1:p.(Pro275=)	NC_000019.9:g.1221302G>A	(Likely) benign	1 lab	023ba81551
5:149278964 PDE6A C>A	5	149278964	149278964	C	A	PDE6A	c.1237G>T	NM_000440.3	NP_000431.2:p.(Asp413Tyr)	NC_000005.9:g.149278964C>A	VUS	1 lab	023bfaf5db
2:21249794 APOB G>C	2	21249794	21249794	G	C	APOB	c.2110C>G	NM_000384.3	NP_000375.3:p.(Leu704Val)	NC_000002.11:g.21249794G>C	VUS	1 lab	023c06d225
2:179403742 TTN C>T	2	179403742	179403742	C	T	TTN	c.98920G>A	NM_001267550.2	NP_001254479.2:p.(Ala32974Thr)	NC_000002.11:g.179403742C>T	VUS	1 lab	023c17856b
2:44065056 ABCG5 C>T	2	44065056	44065056	C	T	ABCG5	c.182G>A	NM_022436.3	NP_071881.1:p.(Arg61Gln)	NC_000002.11:g.44065056C>T	VUS	1 lab	023ce819e9
1:40778295 COL9A2 G>A	1	40778295	40778295	G	A	COL9A2	c.304-14C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40778295G>A	(Likely) benign	1 lab	023e0b6c0f
14:23858863 MYH6 T>C	14	23858863	23858863	T	C	MYH6	c.3798A>G	NM_002471.4	NP_002462.2:p.(Glu1266=)	NC_000014.8:g.23858863T>C	(Likely) benign	1 lab	0240a7c08e
9:107666035 ABCA1 G>GC	9	107666035	107666037	G	GC	ABCA1	c.-76dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107666037dup	(Likely) benign	1 lab	0241391804
4:100522865 MTTP A>G	4	100522865	100522865	A	G	MTTP	c.1338A>G	NM_000253.4	NP_000244.2:p.(Lys446=)	NC_000004.11:g.100522865A>G	(Likely) benign	1 lab	0243f0834c
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	0245af290c
5:148407908 SH3TC2 C>T	5	148407908	148407908	C	T	SH3TC2	c.1387G>A	NM_024577.4	NP_078853.2:p.(Glu463Lys)	NC_000005.9:g.148407908C>T	VUS	1 lab	0245d63c9a
8:134024276 TG G>T	8	134024276	134024276	G	T	TG	c.6393G>T	NM_003235.5	NP_003226.4:p.(Leu2131Phe)	NC_000008.10:g.134024276G>T	VUS	1 lab	024d10ea19
17:44061278 MAPT C>T	17	44061278	44061278	C	T	MAPT	c.1108C>T	NM_001123066.4	NP_001116538.2:p.(Arg370Trp)	NC_000017.10:g.44061278C>T	(Likely) benign	1 lab	025537ef85
5:131940768 RAD50 G>A	5	131940768	131940768	G	A	RAD50	c.2718+77G>A	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131940768G>A	(Likely) benign	1 lab	025db0d3ad
10:102776203 PDZD7 C>T	10	102776203	102776203	C	T	PDZD7	c.1523-19G>A	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102776203C>T	(Likely) benign	1 lab	0260362135
9:204192 MISSING T>Alt too long to show for this DUP	9	204192	304644	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.204193_304644dup	VUS	1 lab	0263d71a29
2:179497452 TTN A>G	2	179497452	179497452	A	G	TTN	c.43281T>C	NM_001267550.2	NP_001254479.2:p.(Phe14427=)	NC_000002.11:g.179497452A>G	(Likely) benign	1 lab	0265c98aad
2:21230851 APOB G>A	2	21230851	21230851	G	A	APOB	c.8889C>T	NM_000384.3	NP_000375.3:p.(Ile2963=)	NC_000002.11:g.21230851G>A	(Likely) benign	1 lab	0269a6d462
8:59407154 CYP7A1 C>G	8	59407154	59407154	C	G	CYP7A1	c.950G>C	NM_000780.4	NP_000771.2:p.(Arg317Thr)	NC_000008.10:g.59407154C>G	VUS	1 lab	026ab9ead0
11:118377296 KMT2A G>GCGGACCAGTTCTT	11	118377296	118377310	G	GCGGACCAGTTCTT	KMT2A	c.10691_10703dup	NM_001197104.2	NP_001184033.1:p.(Glu3569AspfsTer5)	NC_000011.9:g.118377298_118377310dup	(Likely) pathogenic	1 lab	026c570b5d
12:57908984 MARS1 C>G	12	57908984	57908984	C	G	MARS1	c.2256C>G	NM_004990.4	NP_004981.2:p.(Leu752=)	NC_000012.11:g.57908984C>G	(Likely) benign	1 lab	0273a89c4c
5:138223318 CTNNA1 A>G	5	138223318	138223318	A	G	CTNNA1	c.1283A>G	NM_001903.5	NP_001894.2:p.(Asn428Ser)	NC_000005.9:g.138223318A>G	VUS	1 lab	02749fbd6a
1:92729233 GLMN CA>C	1	92729233	92729236	CA	C	GLMN	c.1355del	NM_053274.3	NP_444504.1:p.(Leu452TrpfsTer24)	NC_000001.10:g.92729236del	(Likely) pathogenic	1 lab	02750a6651
16:88782676 PIEZO1 A>G	16	88782676	88782676	A	G	PIEZO1	c.7059T>C	NM_001142864.4	NP_001136336.2:p.(Pro2353=)	NC_000016.9:g.88782676A>G	(Likely) benign	1 lab	0277e4f6ac
3:179138733 GNB4 G>A	3	179138733	179138733	G	A	GNB4	c.58-18C>T	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179138733G>A	(Likely) benign	1 lab	02792e802d
1:116937809 ATP1A1 A>G	1	116937809	116937809	A	G	ATP1A1	c.1738A>G	NM_001160233.2	NP_001153705.1:p.(Ile580Val)	NC_000001.10:g.116937809A>G	(Likely) benign	1 lab	027c856570
5:178579488 ADAMTS2 G>A	5	178579488	178579488	G	A	ADAMTS2	c.1516-232C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178579488G>A	(Likely) benign	1 lab	027cb0ef9a
18:25573460 CDH2 T>C	18	25573460	25573460	T	C	CDH2	c.1158+4A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25573460T>C	VUS	1 lab	0283e03706
9:107594113 ABCA1 T>C	9	107594113	107594113	T	C	ABCA1	c.1510-5A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594113T>C	(Likely) benign	1 lab	0286c2c2c2
2:196728900 DNAH7 A>G	2	196728900	196728900	A	G	DNAH7	c.7479T>C	NM_018897.3	NP_061720.2:p.(Val2493=)	NC_000002.11:g.196728900A>G	(Likely) benign	1 lab	028a75f8d6
2:208993067 CRYGC C>A	2	208993067	208993067	C	A	CRYGC	c.385G>T	NM_020989.4	NP_066269.1:p.(Gly129Cys)	NC_000002.11:g.208993067C>A	(Likely) pathogenic	1 lab	028a8df03a
9:107589296 ABCA1 A>G	9	107589296	107589296	A	G	ABCA1	c.2270T>C	NM_005502.4	NP_005493.2:p.(Leu757Pro)	NC_000009.11:g.107589296A>G	(Likely) pathogenic	1 lab	028ad5a5ed
18:47101845 LIPG C>T	18	47101845	47101845	C	T	LIPG	c.678C>T	NM_006033.4	NP_006024.1:p.(Phe226=)	NC_000018.9:g.47101845C>T	(Likely) benign	1 lab	028c37db26
2:21237376 APOB G>T	2	21237376	21237376	G	T	APOB	c.3786C>A	NM_000384.3	NP_000375.3:p.(Asn1262Lys)	NC_000002.11:g.21237376G>T	VUS	1 lab	028d74c30a
2:27671777 IFT172 G>C	2	27671777	27671777	G	C	IFT172	c.4428+5C>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27671777G>C	(Likely) benign	1 lab	028ed53217
16:943051 LMF1 C>T	16	943051	943051	C	T	LMF1	c.286G>A	NM_001352018.2	NP_001338947.1:p.(Asp96Asn)	NC_000016.9:g.943051C>T	VUS	1 lab	028f73c022
15:78913067 CHRNA3 ACAG>A	15	78913067	78913089	ACAG	A	CHRNA3	c.67_69del	NM_000743.5	NP_000734.2:p.(Leu23del)	NC_000015.9:g.78913087_78913089del	(Likely) benign	1 lab	0290a726a6
X:29469675 IL1RAPL1 Ref too long to show for this DEL>A	X	29469675	29922363	Ref too long to show for this DEL	A	IL1RAPL1	c.703+52252_779-13218del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29469677_29922363del	(Likely) pathogenic	1 lab	029307e764
1:185931631 HMCN1 C>T	1	185931631	185931631	C	T	HMCN1	c.1829-19C>T	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185931631C>T	(Likely) benign	1 lab	0293884f7f
17:48274430 COL1A1 G>A	17	48274430	48274430	G	A	COL1A1	c.751-6C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48274430G>A	(Likely) benign	1 lab	0293e56c7c
3:38671894 SCN5A C>T	3	38671894	38671894	C	T	SCN5A	c.300G>A	NM_001099404.2	NP_001092874.1:p.(Lys100=)	NC_000003.11:g.38671894C>T	(Likely) benign	1 lab	0294961343
16:1004958 LMF1 C>A	16	1004958	1004958	C	A	LMF1	c.-361-292G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004958C>A	(Likely) benign	1 lab	0296fd2beb
6:32725596 HLA-DQB2 C>G	6	32725596	32725596	C	G	HLA-DQB2	c.711G>C	NM_001300790.2	NP_001287719.1:p.(Leu237=)	NC_000006.11:g.32725596C>G	(Likely) benign	1 lab	029905f0f3
14:95595784 DICER1 A>G	14	95595784	95595784	A	G	DICER1	c.734+25T>C	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95595784A>G	(Likely) benign	1 lab	029b5a9b93
12:7171620 C1S C>T	12	7171620	7171620	C	T	C1S	c.441C>T	NM_201442.4	NP_958850.1:p.(Cys147=)	NC_000012.11:g.7171620C>T	(Likely) benign	1 lab	029cfee024
3:154860115 MME G>A	3	154860115	154860115	G	A	MME	c.1184G>A	NM_007289.4	NP_009220.2:p.(Arg395His)	NC_000003.11:g.154860115G>A	VUS	1 lab	029d0f0521
2:179397606 TTN T>G	2	179397606	179397606	T	G	TTN	c.96032A>C	NM_133378.4	NP_596869.4:p.(Glu32011Ala)	NC_000002.11:g.179397606T>G	VUS	1 lab	029e748be8
19:50792917 MYH14 C>T	19	50792917	50792917	C	T	MYH14	c.4965+12C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50792917C>T	(Likely) benign	1 lab	029ebaee3b
11:115245266 CADM1 Ref too long to show for this DEL>T	11	115245266	115266377	Ref too long to show for this DEL	T	CADM1	c.124+108612_124+129722del	NM_001301043.2	NP_001287972.1:p.?	NC_000011.9:g.115245267_115266377del	VUS	1 lab	02a38188c4
9:119286539 ASTN2 Ref too long to show for this DEL>T	9	119286539	119333097	Ref too long to show for this DEL	T	ASTN2	c.3355+47509_3356-36761del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119286543_119333097del	VUS	1 lab	02a3be4e78
19:13249176 NACC1 A>G	19	13249176	13249176	A	G	NACC1	c.1540A>G	NM_052876.4	NP_443108.1:p.(Ser514Gly)	NC_000019.9:g.13249176A>G	(Likely) benign	1 lab	02a42105ee
17:48271823 COL1A1 T>A	17	48271823	48271823	T	A	COL1A1	c.1516-15A>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271823T>A	(Likely) benign	1 lab	02a4419dbe
4:156842233 MISSING T>Alt too long to show for this DUP	4	156842233	156879338	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.156842234_156879338dup	VUS	1 lab	02a5f71859
9:35561071 RUSC2 A>T	9	35561071	35561071	A	T	RUSC2	c.4326A>T	NM_001135999.1	NP_001129471.1:p.(Pro1442=)	NC_000009.11:g.35561071A>T	(Likely) benign	1 lab	02a6c4814a
12:30805751 IPO8 A>G	12	30805751	30805751	A	G	IPO8	c.2074+150T>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30805751A>G	(Likely) benign	1 lab	02a85ddbdd
7:35288458 TBX20 CAG>C	7	35288458	35288475	CAG	C	TBX20	c.381-7_381-6del	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35288474_35288475del	(Likely) benign	1 lab	02a8b8acca
12:21358727 SLCO1B1 C>T	12	21358727	21358727	C	T	SLCO1B1	c.1332-75C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358727C>T	(Likely) benign	1 lab	02aae0caba
15:58724298 LIPC C>T	15	58724298	58724298	C	T	LIPC	c.67C>T	NM_000236.3	NP_000227.2:p.(Leu23Phe)	NC_000015.9:g.58724298C>T	VUS	1 lab	02aba739d8
2:44047203 ABCG5 T>C	2	44047203	44047203	T	C	ABCG5	c.1500A>G	NM_022436.3	NP_071881.1:p.(Gly500=)	NC_000002.11:g.44047203T>C	(Likely) benign	1 lab	02aefa99de
22:50899600 SBF1 G>A	22	50899600	50899600	G	A	SBF1	c.2955C>T	NM_002972.4	NP_002963.2:p.(Ser985=)	NC_000022.10:g.50899600G>A	(Likely) benign	1 lab	02b5cf9ce4
9:137707427 COL5A1 AGT>A	9	137707427	137707430	AGT	A	COL5A1	c.4022_4023del	NM_000093.5	NP_000084.3:p.(Val1341GlyfsTer23)	NC_000009.11:g.137707429_137707430del	(Likely) pathogenic	1 lab	02b78840b8
1:234601456 TARBP1 T>TA	1	234601456	234601475	T	TA	TARBP1	c.1249-3dup	NM_005646.4	NP_005637.3:p.?	NC_000001.10:g.234601475dup	(Likely) benign	1 lab	02bbf7959d
2:179590664 TTN GTACCA>G	2	179590664	179590674	GTACCA	G	TTN	c.20380_20384del	NM_001267550.2	NP_001254479.2:p.(Trp6794GlnfsTer35)	NC_000002.11:g.179590670_179590674del	(Likely) benign	1 lab	02bf876cb3
16:68867396 CDH1 C>T	16	68867396	68867396	C	T	CDH1	c.2643C>T	NM_004360.5	NP_004351.1:p.(Asp881=)	NC_000016.9:g.68867396C>T	(Likely) benign	1 lab	02c3636ab9
10:73377105 CDH23 C>T	10	73377105	73377105	C	T	CDH23	c.1089C>T	NM_022124.6	NP_071407.4:p.(Val363=)	NC_000010.10:g.73377105C>T	(Likely) benign	1 lab	02c3b7351d
1:243504406 SDCCAG8 G>T	1	243504406	243504406	G	T	SDCCAG8	c.1287G>T	NM_006642.5	NP_006633.1:p.(Lys429Asn)	NC_000001.10:g.243504406G>T	VUS	1 lab	02c6c29329
6:31635733 CSNK2B T>A	6	31635733	31635733	T	A	CSNK2B	c.161T>A	NM_001320.7	NP_001311.3:p.(Leu54Ter)	NC_000006.11:g.31635733T>A	(Likely) pathogenic	1 lab	02c70583ba
3:131141479 MISSING Ref too long to show for this DEL>C	3	131141479	136369418	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.131141480_136369418del	(Likely) pathogenic	1 lab	02c9890e61
12:57970592 KIF5A C>T	12	57970592	57970592	C	T	KIF5A	c.2247C>T	NM_004984.4	NP_004975.2:p.(Tyr749=)	NC_000012.11:g.57970592C>T	(Likely) benign	1 lab	02c99f8ead
17:75277611 SEPTIN9 A>C	17	75277611	75277611	A	C	SEPTIN9	c.-7A>C	NM_001113491.2	NP_001106963.1:p.?	NC_000017.10:g.75277611A>C	(Likely) benign	1 lab	02cb52235f
2:182521527 CERKL C>T	2	182521527	182521527	C	T	CERKL	c.207G>A	NM_001030311.3	NP_001025482.1:p.(Arg69=)	NC_000002.11:g.182521527C>T	(Likely) benign	1 lab	02ce989ca7
2:179500987 TTN T>C	2	179500987	179500987	T	C	TTN	c.41330-19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179500987T>C	(Likely) benign	1 lab	02d0cbc2bf
10:71136851 HK1 T>C	10	71136851	71136851	T	C	HK1	c.1136+6T>C	NM_001322365.2	NP_001309294.1:p.?	NC_000010.10:g.71136851T>C	(Likely) benign	1 lab	02d5d18879
2:1520638 TPO C>G	2	1520638	1520638	C	G	TPO	c.2519-17C>G	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1520638C>G	(Likely) benign	1 lab	02d6ee2beb
7:154681050 DPP6 C>T	7	154681050	154681050	C	T	DPP6	c.2373C>T	NM_130797.4	NP_570629.2:p.(Ala791=)	NC_000007.13:g.154681050C>T	(Likely) benign	1 lab	02d9b98f7f
8:19819439 LPL A>G	8	19819439	19819439	A	G	LPL	c.1323-187A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819439A>G	(Likely) benign	1 lab	02dca5776f
1:215844605 USH2A G>T	1	215844605	215844605	G	T	USH2A	c.13842C>A	NM_206933.4	NP_996816.3:p.(Thr4614=)	NC_000001.10:g.215844605G>T	(Likely) benign	1 lab	02de7653ba
8:82357119 PMP2 T>A	8	82357119	82357119	T	A	PMP2	c.179A>T	NM_002677.5	NP_002668.1:p.(Asn60Ile)	NC_000008.10:g.82357119T>A	(Likely) benign	1 lab	02dedf7575
2:44073456 ABCG8 G>A	2	44073456	44073456	G	A	ABCG8	c.322+6G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073456G>A	(Likely) benign	1 lab	02dfcd6f57
5:37187899 CPLANE1 C>T	5	37187899	37187899	C	T	CPLANE1	c.3857G>A	NM_023073.4	NP_075561.3:p.(Arg1286His)	NC_000005.9:g.37187899C>T	(Likely) pathogenic	1 lab	02e01b7051
10:112591188 RBM20 C>T	10	112591188	112591188	C	T	RBM20	c.3573+248C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112591188C>T	(Likely) benign	1 lab	02e2fc3fdd
4:65180351 TECRL G>A	4	65180351	65180351	G	A	TECRL	c.551+15C>T	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65180351G>A	(Likely) benign	1 lab	02e35db406
11:18333012 HPS5 G>A	11	18333012	18333012	G	A	HPS5	c.220-14C>T	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18333012G>A	(Likely) benign	1 lab	02e50e271b
16:23646973 PALB2 G>A	16	23646973	23646973	G	A	PALB2	c.894C>T	NM_024675.4	NP_078951.2:p.(Val298=)	NC_000016.9:g.23646973G>A	(Likely) benign	1 lab	02e864ad77
1:152191477 HRNR G>A	1	152191477	152191477	G	A	HRNR	c.2628C>T	NM_001009931.3	NP_001009931.1:p.(His876=)	NC_000001.10:g.152191477G>A	(Likely) benign	1 lab	02ea9be8d0
5:149447810 CSF1R G>A	5	149447810	149447810	G	A	CSF1R	c.1594C>T	NM_005211.4	NP_005202.2:p.(Leu532=)	NC_000005.9:g.149447810G>A	(Likely) benign	1 lab	02eaaee3f4
6:16131260 MYLIP GAAAA>G	6	16131260	16131279	GAAAA	G	MYLIP	c.278+298_278+301del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131276_16131279del	(Likely) benign	1 lab	02eaf5dea3
1:55523755 PCSK9 C>T	1	55523755	55523755	C	T	PCSK9	c.1227C>T	NM_174936.4	NP_777596.2:p.(Ala409=)	NC_000001.10:g.55523755C>T	(Likely) benign	1 lab	02eb142c4d
4:100521758 MTTP C>T	4	100521758	100521758	C	T	MTTP	c.1104C>T	NM_000253.4	NP_000244.2:p.(Thr368=)	NC_000004.11:g.100521758C>T	(Likely) benign	1 lab	02ec3fb591
3:57232444 HESX1 A>T	3	57232444	57232444	A	T	HESX1	c.434T>A	NM_003865.3	NP_003856.1:p.(Leu145Ter)	NC_000003.11:g.57232444A>T	(Likely) pathogenic	1 lab	02f1f06e47
18:25543305 CDH2 G>A	18	25543305	25543305	G	A	CDH2	c.2514+16C>T	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25543305G>A	(Likely) benign	1 lab	20d15d475c
10:90699300 ACTA2 G>A	10	90699300	90699300	G	A	ACTA2	c.772C>T	NM_001141945.2	NP_001135417.1:p.(Arg258Cys)	NC_000010.10:g.90699300G>A	(Likely) pathogenic	1 lab	02f27dcff5
5:127636307 FBN2 T>G	5	127636307	127636307	T	G	FBN2	c.6166+202A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127636307T>G	(Likely) benign	1 lab	02f48ac641
16:67976815 LCAT C>T	16	67976815	67976815	C	T	LCAT	c.376G>A	NM_000229.2	NP_000220.1:p.(Gly126Ser)	NC_000016.9:g.67976815C>T	VUS	1 lab	02f6570017
3:4026336 MISSING Ref too long to show for this DEL>A	3	4026336	4956099	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.4026338_4956099del	(Likely) pathogenic	1 lab	02f9afc0fd
19:11224443 LDLR G>A	19	11224443	11224443	G	A	LDLR	c.1586+5G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224443G>A	(Likely) pathogenic	1 lab	02fa296954
17:19552476 ALDH3A2 C>T	17	19552476	19552476	C	T	ALDH3A2	c.153+39C>T	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19552476C>T	(Likely) benign	1 lab	02fa566f02
10:71154790 HK1 C>T	10	71154790	71154790	C	T	HK1	c.2268C>T	NM_033500.2	NP_277035.2:p.(Phe756=)	NC_000010.10:g.71154790C>T	(Likely) benign	1 lab	02fb1ce716
7:133261823 EXOC4 Ref too long to show for this DEL>T	7	133261823	133300500	Ref too long to show for this DEL	T	EXOC4	c.1418-52972_1418-14298del	NM_021807.4	NP_068579.3:p.?	NC_000007.13:g.133261826_133300500del	VUS	1 lab	02fb6047e6
15:48764805 FBN1 ATCC>A	15	48764805	48764812	ATCC	A	FBN1	c.4276_4278del	NM_000138.5	NP_000129.3:p.(Gly1426del)	NC_000015.9:g.48764810_48764812del	VUS	1 lab	0302cda620
17:41243993 BRCA1 C>T	17	41243993	41243993	C	T	BRCA1	c.3555G>A	NM_007294.4	NP_009225.1:p.(Glu1185=)	NC_000017.10:g.41243993C>T	(Likely) benign	1 lab	03036f2c60
16:57003313 CETP C>G	16	57003313	57003313	C	G	CETP	c.249C>G	NM_000078.3	NP_000069.2:p.(His83Gln)	NC_000016.9:g.57003313C>G	(Likely) benign	1 lab	03055fe215
X:1539134 ASMTL C>Alt too long to show for this DUP	X	1539134	1569557	C	Alt too long to show for this DUP	ASMTL	c.93+2085_1246-1128dup	NM_004192.4	NP_004183.2:p.?	NC_000023.10:g.1539136_1569557dup	VUS	1 lab	03055ff611
8:61750626 CHD7 C>G	8	61750626	61750626	C	G	CHD7	c.4354-9C>G	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61750626C>G	(Likely) benign	1 lab	03059fc91b
20:42788668 JPH2 G>A	20	42788668	42788668	G	A	JPH2	c.759C>T	NM_020433.5	NP_065166.2:p.(Leu253=)	NC_000020.10:g.42788668G>A	(Likely) benign	1 lab	03068be3e9
4:1953923 NSD2 C>T	4	1953923	1953923	C	T	NSD2	c.2102C>T	NM_133330.3	NP_579877.1:p.(Pro701Leu)	NC_000004.11:g.1953923C>T	VUS	1 lab	030cacd872
7:128486140 FLNC C>T	7	128486140	128486140	C	T	FLNC	c.3887C>T	NM_001458.5	NP_001449.3:p.(Ser1296Leu)	NC_000007.13:g.128486140C>T	VUS	1 lab	030ea58d12
7:128470903 FLNC T>A	7	128470903	128470903	T	A	FLNC	c.212T>A	NM_001458.5	NP_001449.3:p.(Ile71Asn)	NC_000007.13:g.128470903T>A	VUS	1 lab	03107aa6e7
15:85406945 ALPK3 C>T	15	85406945	85406945	C	T	ALPK3	c.4499+74C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406945C>T	(Likely) benign	1 lab	0319ce3412
17:1561583 PRPF8 G>A	17	1561583	1561583	G	A	PRPF8	c.5469C>T	NM_006445.4	NP_006436.3:p.(His1823=)	NC_000017.10:g.1561583G>A	(Likely) benign	1 lab	031e97fc6b
15:48787438 FBN1 G>C	15	48787438	48787438	G	C	FBN1	c.2559C>G	NM_000138.5	NP_000129.3:p.(Cys853Trp)	NC_000015.9:g.48787438G>C	(Likely) pathogenic	1 lab	031edfa693
21:47535796 COL6A2 G>A	21	47535796	47535796	G	A	COL6A2	c.812G>A	NM_058175.3	NP_478055.2:p.(Gly271Asp)	NC_000021.8:g.47535796G>A	(Likely) pathogenic	1 lab	0327cd1ec2
6:140376757 MISSING Ref too long to show for this DEL>A	6	140376757	140643674	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.140376758_140643674del	VUS	1 lab	032843f6e1
15:58853053 LIPC C>G	15	58853053	58853053	C	G	LIPC	c.1052-10C>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853053C>G	(Likely) benign	1 lab	0329d7198f
1:160106431 ATP1A2 C>T	1	160106431	160106431	C	T	ATP1A2	c.2635C>T	NM_000702.4	NP_000693.1:p.(Arg879Trp)	NC_000001.10:g.160106431C>T	VUS	1 lab	032a42b002
3:838732 MISSING A>Alt too long to show for this DUP	3	838732	1110090	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.838734_1110090dup	VUS	1 lab	032bb734d8
6:16129645 MYLIP G>A	6	16129645	16129645	G	A	MYLIP	c.87+5G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129645G>A	VUS	1 lab	032d81d666
2:96950135 SNRNP200 G>A	2	96950135	96950135	G	A	SNRNP200	c.4353C>T	NM_014014.5	NP_054733.2:p.(Phe1451=)	NC_000002.11:g.96950135G>A	(Likely) benign	1 lab	033322d217
14:23862649 MYH6 C>T	14	23862649	23862649	C	T	MYH6	c.3007G>A	NM_002471.4	NP_002462.2:p.(Glu1003Lys)	NC_000014.8:g.23862649C>T	VUS	1 lab	041108360f
16:6677025 RBFOX1 Ref too long to show for this DEL>A	16	6677025	6716566	Ref too long to show for this DEL	A	RBFOX1	c.-63-27577_-16+11915del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6677027_6716566del	VUS	1 lab	0336011d49
1:25880305 LDLRAP1 C>T	1	25880305	25880305	C	T	LDLRAP1	c.89-108C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880305C>T	(Likely) benign	1 lab	0337905d75
4:1904859 MISSING C>Alt too long to show for this DUP	4	1904859	2000230	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.1904862_2000230dup	VUS	1 lab	033c1b76c8
20:49510416 ADNP TC>T	20	49510416	49510417	TC	T	ADNP	c.834del	NM_001282531.3	NP_001269460.1:p.(Lys279ArgfsTer26)	NC_000020.10:g.49510417del	(Likely) pathogenic	1 lab	033e1b83bf
20:13145505 SPTLC3 C>T	20	13145505	13145505	C	T	SPTLC3	c.1650C>T	NM_001349945.2	NP_001336874.1:p.(Leu550=)	NC_000020.10:g.13145505C>T	(Likely) benign	1 lab	0340b355fd
16:1005625 LMF1 A>C	16	1005625	1005625	A	C	LMF1	c.194-959T>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1005625A>C	(Likely) benign	1 lab	0342741512
7:21906124 DNAH11 C>T	7	21906124	21906124	C	T	DNAH11	c.11533C>T	NM_001277115.2	NP_001264044.1:p.(Arg3845Ter)	NC_000007.13:g.21906124C>T	(Likely) pathogenic	1 lab	0343c31b21
19:11224119 LDLR T>C	19	11224119	11224119	T	C	LDLR	c.1352T>C	NM_000527.5	NP_000518.1:p.(Ile451Thr)	NC_000019.9:g.11224119T>C	(Likely) pathogenic	1 lab	03442d0517
7:128475431 FLNC G>A	7	128475431	128475431	G	A	FLNC	c.404G>A	NM_001458.5	NP_001449.3:p.(Trp135Ter)	NC_000007.13:g.128475431G>A	(Likely) pathogenic	1 lab	0348f2584b
15:71535388 THSD4 A>G	15	71535388	71535388	A	G	THSD4	c.865A>G	NM_024817.2	NP_079093.2:p.(Ile289Val)	NC_000015.9:g.71535388A>G	VUS	1 lab	034aadd05b
2:219646547 CYP27A1 A>AC	2	219646547	219646549	A	AC	CYP27A1				NC_000002.11:g.219646549dup	(Likely) benign	1 lab	034ad85472
X:15638244 MISSING T>Alt too long to show for this DUP	X	15638244	15809393	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.15638245_15809393dup	VUS	1 lab	034ccddaf2
10:99030367 MISSING Ref too long to show for this DEL>G	10	99030367	99067677	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.99030368_99067677del	VUS	1 lab	035251a1ab
4:100534041 MTTP G>A	4	100534041	100534041	G	A	MTTP	c.1990-29G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534041G>A	(Likely) benign	1 lab	0354774d5d
15:64452322 PPIB G>A	15	64452322	64452322	G	A	PPIB	c.324C>T	NM_000942.5	NP_000933.1:p.(Thr108=)	NC_000015.9:g.64452322G>A	(Likely) benign	1 lab	03548e1240
6:56437021 DST A>G	6	56437021	56437021	A	G	DST	c.7241T>C	NM_001144769.5	NP_001138241.1:p.(Val2414Ala)	NC_000006.11:g.56437021A>G	(Likely) benign	1 lab	035502267a
1:55529243 PCSK9 C>T	1	55529243	55529243	C	T	PCSK9	c.2065C>T	NM_174936.4	NP_777596.2:p.(Gln689Ter)	NC_000001.10:g.55529243C>T	VUS	1 lab	035a09e854
16:46744645 MYLK3 A>G	16	46744645	46744645	A	G	MYLK3	c.2171T>C	NM_182493.3	NP_872299.2:p.(Ile724Thr)	NC_000016.9:g.46744645A>G	VUS	1 lab	035a0ba2c5
4:100496105 MTTP C>G	4	100496105	100496105	C	G	MTTP	c.39C>G	NM_000253.4	NP_000244.2:p.(Ser13=)	NC_000004.11:g.100496105C>G	(Likely) benign	1 lab	035f9d80fe
2:21258473 APOB G>A	2	21258473	21258473	G	A	APOB	c.801C>T	NM_000384.3	NP_000375.3:p.(Phe267=)	NC_000002.11:g.21258473G>A	(Likely) benign	1 lab	036093f7c8
12:2787006 CACNA1C C>T	12	2787006	2787006	C	T	CACNA1C	c.5208C>T	NM_199460.4	NP_955630.3:p.(Ser1736=)	NC_000012.11:g.2787006C>T	(Likely) benign	1 lab	0362027308
16:69154520 CHTF8 G>A	16	69154520	69154520	G	A	CHTF8	c.174C>T	NM_001039690.5	NP_001034779.1:p.(Ile58=)	NC_000016.9:g.69154520G>A	(Likely) benign	1 lab	03624af410
17:57652810 DHX40 G>A	17	57652810	57652810	G	A	DHX40	c.951G>A	NM_024612.5	NP_078888.4:p.(Pro317=)	NC_000017.10:g.57652810G>A	(Likely) benign	1 lab	0364254f2b
17:48271999 COL1A1 G>C	17	48271999	48271999	G	C	COL1A1	c.1462-12C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271999G>C	(Likely) benign	1 lab	03661c82fa
6:16145415 MYLIP G>A	6	16145415	16145415	G	A	MYLIP	c.1115G>A	NM_013262.4	NP_037394.2:p.(Arg372Gln)	NC_000006.11:g.16145415G>A	VUS	1 lab	036621d868
2:179605705 TTN A>G	2	179605705	179605705	A	G	TTN	c.12255T>C	NM_001267550.2	NP_001254479.2:p.(Ile4085=)	NC_000002.11:g.179605705A>G	(Likely) benign	1 lab	0369804860
15:78457355 IDH3A C>T	15	78457355	78457355	C	T	IDH3A	c.801C>T	NM_005530.3	NP_005521.1:p.(Ile267=)	NC_000015.9:g.78457355C>T	(Likely) benign	1 lab	0369a3bd75
X:64737883 LAS1L T>C	X	64737883	64737883	T	C	LAS1L	c.1911A>G	NM_031206.7	NP_112483.1:p.(Ala637=)	NC_000023.10:g.64737883T>C	(Likely) benign	1 lab	036a04cdcf
7:122059353 CADPS2 Ref too long to show for this DEL>G	7	122059353	122114939	Ref too long to show for this DEL	G	CADPS2	c.1862-368_2477-3136del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122059354_122114939del	VUS	1 lab	036d59d300
13:30829757 KATNAL1 C>CAAAAAA	13	30829757	30829776	C	CAAAAAA	KATNAL1	c.324-11_324-6dup	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829771_30829776dup	(Likely) benign	1 lab	036f29c544
15:73846240 MISSING G>Alt too long to show for this DUP	15	73846240	73911978	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.73846242_73911978dup	VUS	1 lab	03726b5ad9
11:47366428 MYBPC3 G>A	11	47366428	47366428	G	A	MYBPC3	c.1091-1253C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366428G>A	(Likely) benign	1 lab	037537de6b
17:36344418 TBC1D3 C>T	17	36344418	36344418	C	T	TBC1D3	c.294G>A	NM_001123391.3	NP_001116863.3:p.(Ala98=)	NC_000017.10:g.36344418C>T	(Likely) benign	1 lab	037813116a
15:58840882 LIPC G>C	15	58840882	58840882	G	C	LIPC	c.1051+111G>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840882G>C	(Likely) benign	1 lab	037936e4e8
11:47370114 MYBPC3 G>A	11	47370114	47370114	G	A	MYBPC3	c.655-22C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370114G>A	(Likely) benign	1 lab	0379560e43
6:44232757 NFKBIE C>A	6	44232757	44232757	C	A	NFKBIE	c.327G>T	NM_004556.3	NP_004547.3:p.(Gln109His)	NC_000006.11:g.44232757C>A	VUS	1 lab	037c830e07
12:32795421 FGD4 A>G	12	32795421	32795421	A	G	FGD4	c.*1954A>G	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32795421A>G	(Likely) benign	1 lab	037c927ecb
2:179595429 TTN C>T	2	179595429	179595429	C	T	TTN	c.17831G>A	NM_001267550.2	NP_001254479.2:p.(Gly5944Glu)	NC_000002.11:g.179595429C>T	VUS	1 lab	037dbd804a
12:112884060 PTPN11 A>C	12	112884060	112884060	A	C	PTPN11	c.15-20A>C	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112884060A>C	(Likely) benign	1 lab	0385383e13
2:21233196 APOB C>A	2	21233196	21233196	C	A	APOB	c.6544G>T	NM_000384.3	NP_000375.3:p.(Asp2182Tyr)	NC_000002.11:g.21233196C>A	VUS	1 lab	0388ec4371
5:77406118 AP3B1 G>A	5	77406118	77406118	G	A	AP3B1	c.2163C>T	NM_001271769.2	NP_001258698.1:p.(Asp721=)	NC_000005.9:g.77406118G>A	(Likely) benign	1 lab	038a35aa28
2:44079474 ABCG8 A>G	2	44079474	44079474	A	G	ABCG8	c.562-19A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079474A>G	(Likely) benign	1 lab	038bc109b6
19:11224287 LDLR C>G	19	11224287	11224287	C	G	LDLR	c.1435C>G	NM_000527.5	NP_000518.1:p.(Leu479Val)	NC_000019.9:g.11224287C>G	VUS	1 lab	038e5dc88b
8:128603560 MISSING G>Alt too long to show for this DUP	8	128603560	129006720	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.128603561_129006720dup	VUS	1 lab	038f688f30
3:10183699 VHL C>G	3	10183699	10183699	C	G	VHL	c.168C>G	NM_000551.4	NP_000542.1:p.(Ala56=)	NC_000003.11:g.10183699C>G	(Likely) benign	1 lab	03a11be2f3
1:237794913 RYR2 ATTTTTTTTTTTT>A	1	237794913	237794945	ATTTTTTTTTTTT	A	RYR2	c.6555+93_6555+104del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237794934_237794945del	(Likely) benign	1 lab	039161f143
2:179574368 TTN C>T	2	179574368	179574368	C	T	TTN	c.28678G>A	NM_001267550.2	NP_001254479.2:p.(Asp9560Asn)	NC_000002.11:g.179574368C>T	VUS	1 lab	03987b2671
9:107593399 ABCA1 G>A	9	107593399	107593399	G	A	ABCA1	c.1716-17C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593399G>A	(Likely) benign	1 lab	039905f4cf
20:34089679 CEP250 C>T	20	34089679	34089679	C	T	CEP250	c.3906=	NM_007186.6	NP_009117.2:p.(Ser1302=)	NC_000020.10:g.34089679C>T	(Likely) benign	1 lab	039abb0db9
2:61719197 XPO1 A>G	2	61719197	61719197	A	G	XPO1	c.1860T>C	NM_003400.4	NP_003391.1:p.(Thr620=)	NC_000002.11:g.61719197A>G	(Likely) benign	1 lab	039d43c928
21:45750112 CFAP410 C>T	21	45750112	45750112	C	T	CFAP410	c.1097G>A	NM_001271441.2	NP_001258370.1:p.(Arg366His)	NC_000021.8:g.45750112C>T	(Likely) benign	1 lab	039df7f1da
9:107594126 ABCA1 T>G	9	107594126	107594126	T	G	ABCA1	c.1510-18A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594126T>G	VUS	1 lab	03a0131360
11:108159743 ATM G>A	11	108159743	108159743	G	A	ATM	c.4149G>A	NM_000051.4	NP_000042.3:p.(Ser1383=)	NC_000011.9:g.108159743G>A	(Likely) benign	1 lab	03a0bde53d
19:45409944 APOE T>C	19	45409944	45409944	T	C	APOE	c.121+20T>C	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409944T>C	(Likely) benign	1 lab	03a1257f67
15:67457270 SMAD3 G>GGCTCCCTCA	15	67457270	67457272	G	GGCTCCCTCA	SMAD3	c.245_246insCTCCCTCAG	NM_005902.4	NP_005893.1:p.(Gly82_Leu83insSerLeuArg)	NC_000015.9:g.67457271_67457272insCTCCCTCAG	(Likely) pathogenic	1 lab	03a3699cff
17:27849493 TAOK1 C>T	17	27849493	27849493	C	T	TAOK1	c.2104C>T	NM_020791.4	NP_065842.1:p.(Arg702Ter)	NC_000017.10:g.27849493C>T	(Likely) pathogenic	1 lab	03a3d0b1dc
11:47356170 MYBPC3 A>G	11	47356170	47356170	A	G	MYBPC3	c.2905+423T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356170A>G	(Likely) benign	1 lab	03a71107c8
17:1673323 SERPINF1 G>GCCCTC	17	1673323	1673328	G	GCCCTC	SERPINF1	c.263_267dup	NM_002615.7	NP_002606.3:p.(Ser90ProfsTer25)	NC_000017.10:g.1673324_1673328dup	(Likely) pathogenic	1 lab	03a78acfc4
5:133944196 SAR1B G>A	5	133944196	133944196	G	A	SAR1B	c.349-3C>T	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944196G>A	VUS	1 lab	03ab5b9bb6
12:12334074 LRP6 G>A	12	12334074	12334074	G	A	LRP6	c.1276C>T	NM_002336.3	NP_002327.2:p.(Arg426Ter)	NC_000012.11:g.12334074G>A	(Likely) pathogenic	1 lab	03ac6ff461
17:5462171 NLRP1 G>A	17	5462171	5462171	G	A	NLRP1	c.1845C>T	NM_033004.4	NP_127497.1:p.(Ile615=)	NC_000017.10:g.5462171G>A	(Likely) benign	1 lab	03ae5c58b1
6:116754728 DSE G>A	6	116754728	116754728	G	A	DSE	c.1118+15G>A	NM_013352.4	NP_037484.1:p.?	NC_000006.11:g.116754728G>A	(Likely) benign	1 lab	03ae996b06
12:122257346 SETD1B C>T	12	122257346	122257346	C	T	SETD1B	c.3455C>T	NM_001353345.2	NP_001340274.1:p.(Ala1152Val)	NC_000012.11:g.122257346C>T	(Likely) benign	1 lab	03b5104d6e
14:23887455 MYH7 T>G	14	23887455	23887455	T	G	MYH7	c.4133A>C	NM_000257.4	NP_000248.2:p.(Asp1378Ala)	NC_000014.8:g.23887455T>G	VUS	1 lab	03b843da88
6:16295731 MISSING Ref too long to show for this DEL>T	6	16295731	16360969	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.16295732_16360969del	(Likely) pathogenic	1 lab	03b8d9856b
4:98372478 MISSING T>Alt too long to show for this DUP	4	98372478	98431409	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.98372481_98431409dup	VUS	1 lab	03bdd29b5f
12:11214101 TAS2R46 C>G	12	11214101	11214101	C	G	TAS2R46	c.793G>C	NM_176887.2	NP_795368.2:p.(Glu265Gln)	NC_000012.11:g.11214101C>G	(Likely) benign	1 lab	03be73f57c
3:57192763 MISSING Ref too long to show for this DEL>C	3	57192763	57597795	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.57192765_57597795del	VUS	1 lab	03c2f9ca8c
7:140494227 BRAF G>C	7	140494227	140494227	G	C	BRAF	c.1021C>G	NM_001354609.2	NP_001341538.1:p.(Pro341Ala)	NC_000007.13:g.140494227G>C	VUS	1 lab	03c5e54e3e
12:117672490 NOS1 C>T	12	117672490	117672490	C	T	NOS1	c.3217G>A	NM_001204218.2	NP_001191147.1:p.(Gly1073Ser)	NC_000012.11:g.117672490C>T	VUS	1 lab	03c63059a8
5:112170629 APC A>G	5	112170629	112170629	A	G	APC	c.1744-19A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112170629A>G	(Likely) benign	1 lab	03c65acc85
X:334994 MISSING A>Alt too long to show for this DUP	X	334994	389250	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.334997_389250dup	VUS	1 lab	03c680bbe0
2:219677106 CYP27A1 C>T	2	219677106	219677106	C	T	CYP27A1	c.608C>T	NM_000784.4	NP_000775.1:p.(Ser203Leu)	NC_000002.11:g.219677106C>T	(Likely) benign	1 lab	03c703dab2
9:92998952 MISSING Ref too long to show for this DEL>C	9	92998952	99050648	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.92998953_99050648del	(Likely) pathogenic	1 lab	03ca05f05f
3:38671868 SCN5A T>C	3	38671868	38671868	T	C	SCN5A	c.326A>G	NM_198056.3	NP_932173.1:p.(Asn109Ser)	NC_000003.11:g.38671868T>C	VUS	1 lab	03d87001a1
8:133973245 TG C>T	8	133973245	133973245	C	T	TG	c.5402-8C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133973245C>T	(Likely) benign	1 lab	042ddeb4ae
19:2113347 AP3D1 G>A	19	2113347	2113347	G	A	AP3D1	c.2667C>T	NM_001261826.3	NP_001248755.1:p.(Pro889=)	NC_000019.9:g.2113347G>A	(Likely) benign	1 lab	03da4f1ce1
15:72864515 ARIH1 A>G	15	72864515	72864515	A	G	ARIH1	c.1215+9A>G	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72864515A>G	(Likely) benign	1 lab	03dce53866
3:195946534 MISSING A>Alt too long to show for this DUP	3	195946534	196380607	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.195946535_196380607dup	VUS	1 lab	03deaa3dd9
22:37154349 IFT27 A>AG	22	37154349	37154350	A	AG	IFT27	c.*5dup	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37154350dup	VUS	1 lab	03dedc8ed2
6:100897534 SIM1 C>T	6	100897534	100897534	C	T	SIM1	c.390G>A	NM_005068.3	NP_005059.2:p.(Pro130=)	NC_000006.11:g.100897534C>T	(Likely) benign	1 lab	03df551e9b
6:32030058 TNXB C>G	6	32030058	32030058	C	G	TNXB	c.7044G>C	NM_019105.8	NP_061978.6:p.(Arg2348=)	NC_000006.11:g.32030058C>G	(Likely) benign	1 lab	03e3c15e4e
1:60125968 MISSING A>Alt too long to show for this DUP	1	60125968	60505665	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.60125969_60505665dup	VUS	1 lab	03e5917ece
4:79400779 FRAS1 AG>A	4	79400779	79400782	AG	A	FRAS1	c.8353del	NM_025074.7	NP_079350.5:p.(Val2785TrpfsTer33)	NC_000004.11:g.79400782del	(Likely) pathogenic	1 lab	03e69049e4
11:121457022 SORL1 C>T	11	121457022	121457022	C	T	SORL1	c.3798C>T	NM_003105.6	NP_003096.2:p.(Ser1266=)	NC_000011.9:g.121457022C>T	(Likely) benign	1 lab	03e7e9a25c
1:196683052 CFH G>A	1	196683052	196683052	G	A	CFH	c.1519+5G>A	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196683052G>A	VUS	1 lab	03ea4bb3d1
6:16131156 MYLIP T>C	6	16131156	16131156	T	C	MYLIP	c.278+178T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131156T>C	(Likely) benign	1 lab	03ea5389c5
12:22016004 ABCC9 GAA>G	12	22016004	22016015	GAA	G	ABCC9	c.2238-18_2238-17del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22016014_22016015del	(Likely) benign	1 lab	03eb403f28
11:108121495 ATM T>C	11	108121495	108121495	T	C	ATM	c.1303T>C	NM_000051.4	NP_000042.3:p.(Leu435=)	NC_000011.9:g.108121495T>C	(Likely) benign	1 lab	03ec6847e7
17:19513696 MISSING A>Alt too long to show for this DUP	17	19513696	19666229	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19513697_19666229dup	VUS	1 lab	03ec74ec1d
8:144898976 PUF60 ACCATCACTGT>A	8	144898976	144898986	ACCATCACTGT	A	PUF60	c.1255_1264del	NM_001136033.3	NP_001129505.1:p.(Thr419PhefsTer19)	NC_000008.10:g.144898977_144898986del	(Likely) pathogenic	1 lab	03ee19ce09
1:26385016 TRIM63 C>A	1	26385016	26385016	C	A	TRIM63	c.696G>T	NM_032588.4	NP_115977.2:p.(Thr232=)	NC_000001.10:g.26385016C>A	(Likely) benign	1 lab	03f260e290
21:10874558 MISSING C>Alt too long to show for this DUP	21	10874558	10991592	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.10874559_10991592dup	(Likely) pathogenic	1 lab	03f2c6d17c
11:99270455 CNTN5 Ref too long to show for this DEL>T	11	99270455	99396242	Ref too long to show for this DEL	T	CNTN5	c.-71+74241_-70-30634del	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.99270456_99396242del	VUS	1 lab	03f30b18f5
11:116661189 APOA5 C>G	11	116661189	116661189	C	G	APOA5	c.756G>C	NM_052968.5	NP_443200.2:p.(Gln252His)	NC_000011.9:g.116661189C>G	VUS	1 lab	03f3c1bd55
20:57466761 GNAS C>CCCGCCG	20	57466761	57466781	C	CCCGCCG	GNAS	c.-6_-1dup	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466776_57466781dup	(Likely) benign	1 lab	03f420de5b
6:88299675 RARS2 T>C	6	88299675	88299675	T	C	RARS2				NC_000006.11:g.88299675T>C	(Likely) pathogenic	1 lab	03f5cb53bb
11:27722838 BDNF A>G	11	27722838	27722838	A	G	BDNF	c.-22+6T>C	NM_170733.4	NP_733929.1:p.?	NC_000011.9:g.27722838A>G	(Likely) benign	1 lab	03f7b0137e
20:34091987 CEP250 G>A	20	34091987	34091987	G	A	CEP250	c.5790G>A	NM_007186.6	NP_009117.2:p.(Gln1930=)	NC_000020.10:g.34091987G>A	(Likely) benign	1 lab	03fbc33a61
1:94487261 ABCA4 T>C	1	94487261	94487261	T	C	ABCA4	c.4783A>G	NM_000350.3	NP_000341.2:p.(Thr1595Ala)	NC_000001.10:g.94487261T>C	VUS	1 lab	03fdb02083
10:121436322 BAG3 A>T	10	121436322	121436322	A	T	BAG3	c.1256A>T	NM_004281.4	NP_004272.2:p.(His419Leu)	NC_000010.10:g.121436322A>T	VUS	1 lab	0403532313
19:11221946 LDLR G>GA	19	11221946	11221954	G	GA	LDLR	c.1061-236dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221954dup	(Likely) benign	1 lab	0404543ebc
19:46056900 OPA3 C>T	19	46056900	46056900	C	T	OPA3	c.412G>A	NM_025136.4	NP_079412.1:p.(Ala138Thr)	NC_000019.9:g.46056900C>T	(Likely) benign	1 lab	04050fff6c
19:40913859 PRX T>G	19	40913859	40913859	T	G	PRX	c.-20A>C	NM_020956.2	NP_066007.1:p.?	NC_000019.9:g.40913859T>G	VUS	1 lab	0406b51a42
14:104523410 MISSING Ref too long to show for this DEL>C	14	104523410	106572307	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.104523411_106572307del	(Likely) pathogenic	1 lab	040736120d
2:228563458 SLC19A3 AG>A	2	228563458	228563460	AG	A	SLC19A3	c.972del	NM_025243.4	NP_079519.1:p.(Phe325LeufsTer13)	NC_000002.11:g.228563460del	(Likely) pathogenic	1 lab	040c661e37
X:107976908 IRS4 A>T	X	107976908	107976908	A	T	IRS4	c.2667T>A	NM_003604.2	NP_003595.1:p.(Pro889=)	NC_000023.10:g.107976908A>T	(Likely) benign	1 lab	040ee10d8c
9:94797172 SPTLC1 G>A	9	94797172	94797172	G	A	SPTLC1	c.1255-7C>T	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94797172G>A	(Likely) benign	1 lab	0411db8095
1:92737046 GLMN A>G	1	92737046	92737046	A	G	GLMN	c.899T>C	NM_053274.3	NP_444504.1:p.(Ile300Thr)	NC_000001.10:g.92737046A>G	(Likely) benign	1 lab	04137e9517
2:21228386 APOB G>A	2	21228386	21228386	G	A	APOB	c.11354C>T	NM_000384.3	NP_000375.3:p.(Thr3785Ile)	NC_000002.11:g.21228386G>A	(Likely) benign	1 lab	0414d53929
1:236907957 ACTN2 C>T	1	236907957	236907957	C	T	ACTN2	c.663C>T	NM_001278344.2	NP_001265273.1:p.(Tyr221=)	NC_000001.10:g.236907957C>T	(Likely) benign	1 lab	0416e1ffd0
X:13779319 OFD1 G>A	X	13779319	13779319	G	A	OFD1	c.2376G>A	NM_003611.3	NP_003602.1:p.(Glu792=)	NC_000023.10:g.13779319G>A	(Likely) benign	1 lab	04192782c6
2:219647050 CYP27A1 G>T	2	219647050	219647050	G	T	CYP27A1	c.145G>T	NM_000784.4	NP_000775.1:p.(Gly49Cys)	NC_000002.11:g.219647050G>T	VUS	1 lab	0419e29e4c
1:237923051 MISSING Ref too long to show for this DEL>C	1	237923051	239476231	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.237923052_239476231del	(Likely) pathogenic	1 lab	041d3bdd81
5:14487634 TRIO CG>C	5	14487634	14487639	CG	C	TRIO	c.6902del	NM_007118.4	NP_009049.2:p.(Gly2301AlafsTer112)	NC_000005.9:g.14487639del	(Likely) pathogenic	1 lab	041efc970e
6:16146901 MYLIP C>T	6	16146901	16146901	C	T	MYLIP	c.1257C>T	NM_013262.4	NP_037394.2:p.(Pro419=)	NC_000006.11:g.16146901C>T	(Likely) benign	1 lab	0420791e71
7:103557648 RELN G>GA	7	103557648	103557658	G	GA	RELN	c.227-17dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103557658dup	(Likely) benign	1 lab	0421f440b5
X:130411916 IGSF1 TC>T	X	130411916	130411917	TC	T	IGSF1	c.2248del	NM_001170961.2	NP_001164432.1:p.(Glu750LysfsTer28)	NC_000023.10:g.130411917del	(Likely) pathogenic	1 lab	0425eb392d
17:58236652 CA4 A>T	17	58236652	58236652	A	T	CA4	c.806A>T	NM_000717.5	NP_000708.1:p.(Asn269Ile)	NC_000017.10:g.58236652A>T	VUS	1 lab	0426b55c54
3:53842714 CACNA1D C>T	3	53842714	53842714	C	T	CACNA1D	c.5848C>T	NM_000720.4	NP_000711.1:p.(Arg1950Trp)	NC_000003.11:g.53842714C>T	VUS	1 lab	04294a5a93
12:5154738 KCNA5 G>T	12	5154738	5154738	G	T	KCNA5	c.1425G>T	NM_002234.4	NP_002225.2:p.(Val475=)	NC_000012.11:g.5154738G>T	(Likely) benign	1 lab	042c74f915
2:234217870 SAG C>T	2	234217870	234217870	C	T	SAG	c.35C>T	NM_000541.5	NP_000532.2:p.(Pro12Leu)	NC_000002.11:g.234217870C>T	(Likely) benign	1 lab	042fc14722
3:170715835 SLC2A2 G>C	3	170715835	170715835	G	C	SLC2A2	c.1432C>G	NM_000340.2	NP_000331.1:p.(Leu478Val)	NC_000003.11:g.170715835G>C	VUS	1 lab	0431e8ef60
11:2906548 CDKN1C G>A	11	2906548	2906548	G	A	CDKN1C	c.172C>T	NM_000076.2	NP_000067.1:p.(Gln58Ter)	NC_000011.9:g.2906548G>A	(Likely) pathogenic	1 lab	0434672807
8:144997590 PLEC C>T	8	144997590	144997590	C	T	PLEC	c.6918G>A	NM_201380.4	NP_958782.1:p.(Lys2306=)	NC_000008.10:g.144997590C>T	(Likely) benign	1 lab	0438f5db56
X:70443940 GJB1 C>G	X	70443940	70443940	C	G	GJB1	c.383C>G	NM_000166.6	NP_000157.1:p.(Ser128Ter)	NC_000023.10:g.70443940C>G	(Likely) pathogenic	1 lab	0439deba70
5:53092695 MISSING Ref too long to show for this DEL>C	5	53092695	53343371	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.53092696_53343371del	VUS	1 lab	043f73c3c7
12:57910096 MARS1 G>A	12	57910096	57910096	G	A	MARS1	c.2532G>A	NM_004990.4	NP_004981.2:p.(Ala844=)	NC_000012.11:g.57910096G>A	(Likely) benign	1 lab	043f84beb1
2:110927478 NPHP1 TCTCTTC>T	2	110927478	110927493	TCTCTTC	T	NPHP1	c.421_426del	NM_000272.5	NP_000263.2:p.(Glu141_Glu142del)	NC_000002.11:g.110927488_110927493del	(Likely) benign	1 lab	04410548ff
19:11228142 LDLR C>CTT	19	11228142	11228144	C	CTT	LDLR	c.1845+469_1845+470dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228143_11228144dup	(Likely) benign	1 lab	044131fc70
8:144295690 GPIHBP1 C>T	8	144295690	144295690	C	T	GPIHBP1	c.53-7C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295690C>T	(Likely) benign	1 lab	044256fda2
2:179615092 TTN C>A	2	179615092	179615092	C	A	TTN	c.12035G>T	NM_133379.5	NP_596870.2:p.(Gly4012Val)	NC_000002.11:g.179615092C>A	(Likely) benign	1 lab	04430981b2
7:94027080 COL1A2 AC>A	7	94027080	94027081	AC	A	COL1A2	c.81+11del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027081del	(Likely) benign	1 lab	04487b27d5
19:15311663 NOTCH3 T>TGGCGGC	19	15311663	15311670	T	TGGCGGC	NOTCH3	c.48_53dup	NM_000435.3	NP_000426.2:p.(Pro22_Pro23dup)	NC_000019.9:g.15311665_15311670dup	VUS	1 lab	044a23a13c
15:71507699 THSD4 A>C	15	71507699	71507699	A	C	THSD4	c.425A>C	NM_024817.2	NP_079093.2:p.(His142Pro)	NC_000015.9:g.71507699A>C	VUS	1 lab	044ae4433f
11:116661655 APOA5 TGCA>T	11	116661655	116661660	TGCA	T	APOA5	c.287_289del	NM_052968.5	NP_443200.2:p.(Leu96del)	NC_000011.9:g.116661658_116661660del	(Likely) pathogenic	1 lab	044cf153a7
22:22989604 GGTLC2 T>C	22	22989604	22989604	T	C	GGTLC2	c.456T>C	NM_001282879.1	NP_001269808.1:p.(Pro152=)	NC_000022.10:g.22989604T>C	(Likely) benign	1 lab	045404e564
11:76829356 CAPN5 C>T	11	76829356	76829356	C	T	CAPN5	c.1125C>T	NM_004055.5	NP_004046.2:p.(Gly375=)	NC_000011.9:g.76829356C>T	(Likely) benign	1 lab	0456db2a14
16:1004593 LMF1 C>T	16	1004593	1004593	C	T	LMF1	c.267G>A	NM_022773.4	NP_073610.2:p.(Val89=)	NC_000016.9:g.1004593C>T	(Likely) benign	1 lab	0459872f70
19:15272220 NOTCH3 C>T	19	15272220	15272220	C	T	NOTCH3	c.6219G>A	NM_000435.3	NP_000426.2:p.(Gly2073=)	NC_000019.9:g.15272220C>T	(Likely) benign	1 lab	045ff0f359
7:128485991 FLNC T>C	7	128485991	128485991	T	C	FLNC	c.3791-53T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128485991T>C	(Likely) benign	1 lab	046340dd7d
11:1951055 TNNT3 CCAAGTGAGTGTGGGGTCCTGGCAGGCCCGCTGCTGAGTGTGTTCTGGGGTGGGGGTGGT>C	11	1951055	1951142	CCAAGTGAGTGTGGGGTCCTGGCAGGCCCGCTGCTGAGTGTGTTCTGGGGTGGGGGTGGT	C	TNNT3	c.101+26_101+84del	NM_001297646.2	NP_001284575.1:p.?	NC_000011.9:g.1951084_1951142del	(Likely) benign	1 lab	0463d3a0ab
10:69366801 CTNNA3 T>C	10	69366801	69366801	T	C	CTNNA3	c.106A>G	NM_013266.4	NP_037398.2:p.(Thr36Ala)	NC_000010.10:g.69366801T>C	VUS	1 lab	0463e8332d
9:137534069 COL5A1 G>C	9	137534069	137534069	G	C	COL5A1	c.36G>C	NM_000093.5	NP_000084.3:p.(Ala12=)	NC_000009.11:g.137534069G>C	(Likely) benign	1 lab	04643e6ff4
3:142185337 ATR A>G	3	142185337	142185337	A	G	ATR	c.6726T>C	NM_001184.4	NP_001175.2:p.(His2242=)	NC_000003.11:g.142185337A>G	(Likely) benign	1 lab	0469d27f5a
8:103118796 MISSING G>Alt too long to show for this DUP	8	103118796	103152636	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.103118797_103152636dup	VUS	1 lab	046c1b5b61
7:128494538 FLNC G>T	7	128494538	128494538	G	T	FLNC	c.6799G>T	NM_001458.5	NP_001449.3:p.(Val2267Phe)	NC_000007.13:g.128494538G>T	VUS	1 lab	046e0e1fba
11:31199811 MISSING Ref too long to show for this DEL>T	11	31199811	31588487	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.31199812_31588487del	VUS	1 lab	046e258c18
12:102011038 MYBPC1 G>A	12	102011038	102011038	G	A	MYBPC1	c.103+17G>A	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102011038G>A	(Likely) benign	1 lab	046f49b443
14:99641678 BCL11B C>CG	14	99641678	99641683	C	CG	BCL11B	c.1494dup	NM_138576.4	NP_612808.1:p.(Glu499ArgfsTer18)	NC_000014.8:g.99641683dup	(Likely) pathogenic	1 lab	046fbf07bc
11:27695718 BDNF G>A	11	27695718	27695718	G	A	BDNF	c.114C>T	NM_001143810.2	NP_001137282.1:p.(Tyr38=)	NC_000011.9:g.27695718G>A	(Likely) benign	1 lab	047048589b
11:66333223 CTSF C>T	11	66333223	66333223	C	T	CTSF	c.965-1G>A	NM_003793.4	NP_003784.2:p.?	NC_000011.9:g.66333223C>T	(Likely) pathogenic	1 lab	04738c69ed
2:179458149 TTN CAG>C	2	179458149	179458153	CAG	C	TTN	c.58784_58785del	NM_001267550.2	NP_001254479.2:p.(Ser19595CysfsTer7)	NC_000002.11:g.179458152_179458153del	(Likely) pathogenic	1 lab	04747470f5
18:25568522 CDH2 A>ATG	18	25568522	25568524	A	ATG	CDH2	c.1706_1707insCA	NM_001792.5	NP_001783.2:p.(Asn572IlefsTer15)	NC_000018.9:g.25568523_25568524insGT	VUS	1 lab	04758f57d0
5:95831416 MISSING Ref too long to show for this DEL>G	5	95831416	97590332	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.95831417_97590332del	VUS	1 lab	047713d446
12:977938 WNK1 C>T	12	977938	977938	C	T	WNK1	c.3046C>T	NM_001184985.2	NP_001171914.1:p.(Gln1016Ter)	NC_000012.11:g.977938C>T	(Likely) pathogenic	1 lab	0477671896
X:13771531 OFD1 G>A	X	13771531	13771531	G	A	OFD1	c.1100G>A	NM_003611.3	NP_003602.1:p.(Arg367Gln)	NC_000023.10:g.13771531G>A	VUS	1 lab	0477e54c69
3:46901007 MYL3 T>C	3	46901007	46901007	T	C	MYL3	c.439A>G	NM_000258.3	NP_000249.1:p.(Thr147Ala)	NC_000003.11:g.46901007T>C	VUS	1 lab	047900b655
8:144999242 PLEC C>T	8	144999242	144999242	C	T	PLEC	c.5266G>A	NM_201380.4	NP_958782.1:p.(Glu1756Lys)	NC_000008.10:g.144999242C>T	VUS	1 lab	0479e7ef7f
2:179605636 TTN A>G	2	179605636	179605636	A	G	TTN	c.12324T>C	NM_001267550.2	NP_001254479.2:p.(Pro4108=)	NC_000002.11:g.179605636A>G	(Likely) benign	1 lab	047dda3a60
11:31811460 ELP4 CTTTT>C	11	31811460	31811483	CTTTT	C	ELP4	c.*6503_*6506del	NM_001288726.2	NP_001275655.1:p.?	NC_000011.9:g.31811480_31811483del	(Likely) benign	1 lab	047ffb2ae8
8:1846688 ARHGEF10 C>T	8	1846688	1846688	C	T	ARHGEF10	c.1719C>T	NM_001308153.2	NP_001295082.1:p.(Leu573=)	NC_000008.10:g.1846688C>T	(Likely) benign	1 lab	048263829c
5:171752385 SH3PXD2B C>T	5	171752385	171752385	C	T	SH3PXD2B	c.1189-1G>A	NM_001308175.2	NP_001295104.1:p.?	NC_000005.9:g.171752385C>T	VUS	1 lab	0487b7e94b
4:997221 IDUA TG>T	4	997221	997222	TG	T	IDUA	c.1614del	NM_000203.5	NP_000194.2:p.(His539ThrfsTer21)	NC_000004.11:g.997222del	(Likely) pathogenic	1 lab	048ef0f554
X:53620491 HUWE1 G>A	X	53620491	53620491	G	A	HUWE1	c.3574C>T	NM_031407.7	NP_113584.3:p.(Pro1192Ser)	NC_000023.10:g.53620491G>A	VUS	1 lab	049076a505
11:118375572 KMT2A G>A	11	118375572	118375572	G	A	KMT2A	c.8965G>A	NM_001197104.2	NP_001184033.1:p.(Glu2989Lys)	NC_000011.9:g.118375572G>A	VUS	1 lab	0493951732
20:8779671 MISSING T>Alt too long to show for this DUP	20	8779671	9315243	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.8779673_9315243dup	VUS	1 lab	049422821b
14:23857261 MYH6 AGC>A	14	23857261	23857263	AGC	A	MYH6	c.4359+101_4359+102del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857262_23857263del	(Likely) benign	1 lab	049c36ba5e
11:47359415 MYBPC3 C>T	11	47359415	47359415	C	T	MYBPC3	c.2309-70G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359415C>T	(Likely) benign	1 lab	049e1983e0
17:57125025 TRIM37 A>AGAAACT	17	57125025	57125027	A	AGAAACT	TRIM37	c.1667+18_1667+19insAGTTTC	NM_001005207.5	NP_001005207.1:p.?	NC_000017.10:g.57125026_57125027insAAACTG	(Likely) benign	1 lab	049fb4a9de
5:74712697 CERT1 T>C	5	74712697	74712697	T	C	CERT1	c.837+4A>G	NM_005713.3	NP_005704.1:p.?	NC_000005.9:g.74712697T>C	VUS	1 lab	04a60fec56
2:21255399 APOB G>A	2	21255399	21255399	G	A	APOB	c.1179C>T	NM_000384.3	NP_000375.3:p.(His393=)	NC_000002.11:g.21255399G>A	(Likely) benign	1 lab	04a68de7b9
2:74166053 DGUOK G>A	2	74166053	74166053	G	A	DGUOK	c.159G>A	NM_080916.3	NP_550438.1:p.(Thr53=)	NC_000002.11:g.74166053G>A	(Likely) benign	1 lab	04a9ad8d3a
20:54824812 MC3R G>A	20	54824812	54824812	G	A	MC3R	c.913G>A	NM_019888.3	NP_063941.3:p.(Glu305Lys)	NC_000020.10:g.54824812G>A	VUS	1 lab	16d5f6b856
2:179476255 TTN T>C	2	179476255	179476255	T	C	TTN	c.50701A>G	NM_001267550.2	NP_001254479.2:p.(Arg16901Gly)	NC_000002.11:g.179476255T>C	VUS	1 lab	04aa1c98ef
7:100414973 EPHB4 C>T	7	100414973	100414973	C	T	EPHB4	c.1429G>A	NM_004444.5	NP_004435.3:p.(Glu477Lys)	NC_000007.13:g.100414973C>T	VUS	1 lab	04acaea5bb
1:40777234 COL9A2 G>A	1	40777234	40777234	G	A	COL9A2	c.472-15C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40777234G>A	(Likely) benign	1 lab	04b100fcfd
11:62458105 BSCL2 GCTC>G	11	62458105	62458111	GCTC	G	BSCL2	c.1210_1212del	NM_001122955.4	NP_001116427.1:p.(Glu404del)	NC_000011.9:g.62458109_62458111del	VUS	1 lab	04b34de556
16:904638 LMF1 T>G	16	904638	904638	T	G	LMF1	c.1199A>C	NM_001352018.2	NP_001338947.1:p.(Lys400Thr)	NC_000016.9:g.904638T>G	VUS	1 lab	04b36f5c18
X:12734470 FRMPD4 T>C	X	12734470	12734470	T	C	FRMPD4	c.1892T>C	NM_001368397.1	NP_001355326.1:p.(Leu631Ser)	NC_000023.10:g.12734470T>C	VUS	1 lab	04b50b1802
15:60803805 RORA C>T	15	60803805	60803805	C	T	RORA	c.539G>A	NM_134260.3	NP_599022.1:p.(Arg180Gln)	NC_000015.9:g.60803805C>T	(Likely) pathogenic	1 lab	04b5842398
2:211539650 CPS1 G>A	2	211539650	211539650	G	A	CPS1	c.4126G>A	NM_001875.5	NP_001866.2:p.(Gly1376Ser)	NC_000002.11:g.211539650G>A	(Likely) benign	1 lab	04b5dfe9df
7:91632286 AKAP9 T>G	7	91632286	91632286	T	G	AKAP9	c.3055T>G	NM_005751.5	NP_005742.4:p.(Leu1019Val)	NC_000007.13:g.91632286T>G	VUS	1 lab	04b611e7b9
10:71048481 HK1 A>C	10	71048481	71048481	A	C	HK1	c.-19A>C	NM_001358263.1	NP_001345192.1:p.?	NC_000010.10:g.71048481A>C	(Likely) benign	1 lab	04b7499543
15:40764219 CHST14 T>C	15	40764219	40764219	T	C	CHST14	c.807T>C	NM_130468.4	NP_569735.1:p.(Asp269=)	NC_000015.9:g.40764219T>C	(Likely) benign	1 lab	04b91bdb43
1:25870179 LDLRAP1 C>T	1	25870179	25870179	C	T	LDLRAP1	c.-11C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870179C>T	(Likely) benign	1 lab	04b93602e3
5:127700418 FBN2 T>C	5	127700418	127700418	T	C	FBN2	c.2303A>G	NM_001999.4	NP_001990.2:p.(Asp768Gly)	NC_000005.9:g.127700418T>C	VUS	1 lab	04bb2d5311
6:7568031 DSP G>T	6	7568031	7568031	G	T	DSP	c.1158G>T	NM_004415.4	NP_004406.2:p.(Gln386His)	NC_000006.11:g.7568031G>T	VUS	1 lab	04bc2e34b5
9:137676843 COL5A1 C>T	9	137676843	137676843	C	T	COL5A1	c.2493C>T	NM_000093.5	NP_000084.3:p.(Ile831=)	NC_000009.11:g.137676843C>T	(Likely) benign	1 lab	0531403c42
1:94528297 ABCA4 A>T	1	94528297	94528297	A	T	ABCA4	c.1773T>A	NM_000350.3	NP_000341.2:p.(Ser591=)	NC_000001.10:g.94528297A>T	VUS	1 lab	04bee6ab1e
2:29519881 ALK C>T	2	29519881	29519881	C	T	ALK	c.1690G>A	NM_004304.5	NP_004295.2:p.(Val564Met)	NC_000002.11:g.29519881C>T	VUS	1 lab	04bf7116a0
2:48915353 LHCGR A>T	2	48915353	48915353	A	T	LHCGR	c.1583T>A	NM_000233.4	NP_000224.2:p.(Ile528Lys)	NC_000002.11:g.48915353A>T	(Likely) pathogenic	1 lab	04c09fb88f
1:11181327 MTOR C>T	1	11181327	11181327	C	T	MTOR	c.6909G>A	NM_004958.4	NP_004949.1:p.(Leu2303=)	NC_000001.10:g.11181327C>T	(Likely) benign	1 lab	04c22cd69c
12:32949200 PKP2 T>C	12	32949200	32949200	T	C	PKP2	c.2332A>G	NM_004572.4	NP_004563.2:p.(Ile778Val)	NC_000012.11:g.32949200T>C	VUS	1 lab	04c456437d
17:56290442 MKS1 C>T	17	56290442	56290442	C	T	MKS1	c.759G>A	NM_017777.4	NP_060247.2:p.(Thr253=)	NC_000017.10:g.56290442C>T	(Likely) benign	1 lab	04c6d88474
9:34635679 SIGMAR1 G>A	9	34635679	34635679	G	A	SIGMAR1	c.622C>T	NM_005866.4	NP_005857.1:p.(Arg208Trp)	NC_000009.11:g.34635679G>A	(Likely) benign	1 lab	04cca28812
16:29819886 MAZ C>T	16	29819886	29819886	C	T	MAZ	c.1108-5C>T	NM_001042539.3	NP_001036004.1:p.?	NC_000016.9:g.29819886C>T	(Likely) benign	1 lab	04ce182712
14:78912061 MISSING Ref too long to show for this DEL>A	14	78912061	81589930	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.78912063_81589930del	VUS	1 lab	04ce75fa50
X:53226976 KDM5C T>C	X	53226976	53226976	T	C	KDM5C	c.2599A>G	NM_004187.5	NP_004178.2:p.(Met867Val)	NC_000023.10:g.53226976T>C	VUS	1 lab	04d165a18e
22:50901009 SBF1 C>T	22	50901009	50901009	C	T	SBF1	c.2106G>A	NM_002972.4	NP_002963.2:p.(Thr702=)	NC_000022.10:g.50901009C>T	(Likely) benign	1 lab	04d6a4ea49
9:137630298 COL5A1 C>T	9	137630298	137630298	C	T	COL5A1	c.1390-22C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630298C>T	(Likely) benign	1 lab	04d6b7b3e6
10:88439892 LDB3 T>C	10	88439892	88439892	T	C	LDB3	c.299T>C	NM_001171610.2	NP_001165081.1:p.(Leu100Pro)	NC_000010.10:g.88439892T>C	VUS	1 lab	04d9392bb6
2:179475859 TTN A>G	2	179475859	179475859	A	G	TTN	c.50997T>C	NM_001267550.2	NP_001254479.2:p.(Asp16999=)	NC_000002.11:g.179475859A>G	(Likely) benign	1 lab	04db494145
16:70287933 AARS1 G>A	16	70287933	70287933	G	A	AARS1	c.2409C>T	NM_001605.3	NP_001596.2:p.(Ala803=)	NC_000016.9:g.70287933G>A	(Likely) benign	1 lab	04dc4c3f45
4:114284545 ANK2 T>C	4	114284545	114284545	T	C	ANK2	c.10808T>C	NM_001148.6	NP_001139.3:p.(Ile3603Thr)	NC_000004.11:g.114284545T>C	VUS	1 lab	04e1284d84
12:2224640 CACNA1C G>A	12	2224640	2224640	G	A	CACNA1C	c.300G>A	NM_199460.4	NP_955630.3:p.(Pro100=)	NC_000012.11:g.2224640G>A	(Likely) benign	1 lab	04e65677d0
8:100520037 VPS13B T>C	8	100520037	100520037	T	C	VPS13B	c.4197T>C	NM_017890.5	NP_060360.3:p.(Gly1399=)	NC_000008.10:g.100520037T>C	(Likely) benign	1 lab	04e6ebbe3d
2:170131652 LRP2 G>A	2	170131652	170131652	G	A	LRP2	c.1869C>T	NM_004525.3	NP_004516.2:p.(Ala623=)	NC_000002.11:g.170131652G>A	(Likely) benign	1 lab	04eb4bf007
2:179466480 TTN A>G	2	179466480	179466480	A	G	TTN	c.55337T>C	NM_001267550.2	NP_001254479.2:p.(Ile18446Thr)	NC_000002.11:g.179466480A>G	VUS	1 lab	04ec851eea
6:32729439 HLA-DQB2 T>C	6	32729439	32729439	T	C	HLA-DQB2	c.362A>G	NM_001300790.2	NP_001287719.1:p.(Gln121Arg)	NC_000006.11:g.32729439T>C	(Likely) benign	1 lab	04ef7d4eb5
2:29293598 PCARE C>T	2	29293598	29293598	C	T	PCARE	c.3530G>A	NM_001029883.3	NP_001025054.1:p.(Arg1177Gln)	NC_000002.11:g.29293598C>T	(Likely) benign	1 lab	04f0e304f8
12:28116638 PTHLH C>T	12	28116638	28116638	C	T	PTHLH	c.167G>A	NM_002820.3	NP_002811.1:p.(Arg56Gln)	NC_000012.11:g.28116638C>T	VUS	1 lab	04f4ed23d5
20:10393237 MKKS C>T	20	10393237	10393237	C	T	MKKS	c.926G>A	NM_018848.3	NP_061336.1:p.(Arg309His)	NC_000020.10:g.10393237C>T	(Likely) benign	1 lab	04f83d1f22
6:7577288 DSP CATAAAGA>C	6	7577288	7577297	CATAAAGA	C	DSP	c.2877+16_2877+22del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577291_7577297del	(Likely) benign	1 lab	04fb392de0
1:92642382 BTBD8 A>T	1	92642382	92642382	A	T	BTBD8	c.97-4A>T	NM_015237.4	NP_056052.3:p.?	NC_000001.10:g.92642382A>T	(Likely) benign	1 lab	04fc2d4e79
2:179474706 TTN AG>A	2	179474706	179474711	AG	A	TTN	c.51443del	NM_001267550.2	NP_001254479.2:p.(Pro17148LeufsTer5)	NC_000002.11:g.179474711del	(Likely) pathogenic	1 lab	04fefbef22
1:156851370 NTRK1 A>AT	1	156851370	156851371	A	AT	NTRK1	c.2220dup	NM_001007792.1	NP_001007793.1:p.(Val741CysfsTer?)	NC_000001.10:g.156851371dup	(Likely) pathogenic	1 lab	0500e983df
1:104076462 RNPC3 C>T	1	104076462	104076462	C	T	RNPC3	c.342C>T	NM_017619.4	NP_060089.1:p.(Gly114=)	NC_000001.10:g.104076462C>T	(Likely) benign	1 lab	05017ca10a
2:166901738 SCN1A T>G	2	166901738	166901738	T	G	SCN1A	c.1477A>C	NM_001202435.3	NP_001189364.1:p.(Ser493Arg)	NC_000002.11:g.166901738T>G	VUS	1 lab	0502966283
4:156232562 MISSING Ref too long to show for this DEL>T	4	156232562	156294417	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.156232564_156294417del	VUS	1 lab	05029b7b8f
1:26393817 TRIM63 C>A	1	26393817	26393817	C	A	TRIM63	c.159+10G>T	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26393817C>A	(Likely) benign	1 lab	05041f475c
16:1004438 LMF1 AG>A	16	1004438	1004439	AG	A	LMF1	c.94del	NM_001352019.2	NP_001338948.1:p.(Leu32Ter)	NC_000016.9:g.1004439del	(Likely) pathogenic	1 lab	050474c0cc
9:133355179 ASS1 C>T	9	133355179	133355179	C	T	ASS1	c.765C>T	NM_000050.4	NP_000041.2:p.(Asn255=)	NC_000009.11:g.133355179C>T	(Likely) benign	1 lab	050d5b719e
2:44099186 ABCG8 G>A	2	44099186	44099186	G	A	ABCG8	c.1036G>A	NM_022437.3	NP_071882.1:p.(Ala346Thr)	NC_000002.11:g.44099186G>A	VUS	1 lab	050f4f4554
6:146056681 EPM2A C>T	6	146056681	146056681	C	T	EPM2A	c.-114+363G>A	NM_001360064.2	NP_001346993.1:p.?	NC_000006.11:g.146056681C>T	(Likely) benign	1 lab	0515ece032
16:3779003 CREBBP G>A	16	3779003	3779003	G	A	CREBBP	c.6045C>T	NM_004380.3	NP_004371.2:p.(Ser2015=)	NC_000016.9:g.3779003G>A	(Likely) benign	1 lab	051bfad959
2:24930262 NCOA1 C>T	2	24930262	24930262	C	T	NCOA1	c.1923C>T	NM_001362950.1	NP_001349879.1:p.(Ala641=)	NC_000002.11:g.24930262C>T	(Likely) benign	1 lab	051cccd45d
X:9707658 GPR143 C>T	X	9707658	9707658	C	T	GPR143	c.987G>A	NM_000273.3	NP_000264.2:p.(Trp329Ter)	NC_000023.10:g.9707658C>T	(Likely) pathogenic	1 lab	051cfa238c
10:67748510 CTNNA3 C>T	10	67748510	67748510	C	T	CTNNA3	c.2205G>A	NM_013266.4	NP_037398.2:p.(Ala735=)	NC_000010.10:g.67748510C>T	(Likely) benign	1 lab	051ee00b07
5:112824048 MCC T>TGCC	5	112824048	112824068	T	TGCC	MCC	c.61_63dup	NM_001085377.2	NP_001078846.2:p.(Gly21dup)	NC_000005.9:g.112824066_112824068dup	(Likely) benign	1 lab	0521654e5a
10:90706741 ACTA2 A>C	10	90706741	90706741	A	C	ACTA2	c.258+274T>G	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90706741A>C	(Likely) benign	1 lab	0522b44ba6
13:32899279 BRCA2 A>G	13	32899279	32899279	A	G	BRCA2	c.383A>G	NM_000059.4	NP_000050.3:p.(Asp128Gly)	NC_000013.10:g.32899279A>G	(Likely) benign	1 lab	05265ded1d
16:88495053 ZNF469 G>T	16	88495053	88495053	G	T	ZNF469	c.1175G>T	NM_001367624.2	NP_001354553.1:p.(Gly392Val)	NC_000016.9:g.88495053G>T	VUS	1 lab	052ad3bcc5
6:32036721 TNXB A>G	6	32036721	32036721	A	G	TNXB	c.5780T>C	NM_019105.8	NP_061978.6:p.(Ile1927Thr)	NC_000006.11:g.32036721A>G	(Likely) benign	1 lab	05369d5edc
7:94058682 COL1A2 T>C	7	94058682	94058682	T	C	COL1A2	c.3894T>C	NM_000089.4	NP_000080.2:p.(Val1298=)	NC_000007.13:g.94058682T>C	(Likely) benign	1 lab	053749d4d4
2:106015424 FHL2 C>T	2	106015424	106015424	C	T	FHL2	c.-76+3G>A	NM_001039492.3	NP_001034581.1:p.?	NC_000002.11:g.106015424C>T	(Likely) benign	1 lab	0541447680
19:11228139 LDLR C>A	19	11228139	11228139	C	A	LDLR	c.1845+465C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228139C>A	(Likely) benign	1 lab	054205dab4
2:179485820 TTN C>T	2	179485820	179485820	C	T	TTN	c.45616+9G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179485820C>T	(Likely) benign	1 lab	054849d634
8:19797052 LPL C>G	8	19797052	19797052	C	G	LPL	c.88+13C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797052C>G	(Likely) benign	1 lab	0548616149
1:237804242 RYR2 G>A	1	237804242	237804242	G	A	RYR2	c.7161G>A	NM_001035.3	NP_001026.2:p.(Ala2387=)	NC_000001.10:g.237804242G>A	(Likely) benign	1 lab	0548fac8ff
19:11218112 LDLR G>A	19	11218112	11218112	G	A	LDLR	c.862G>A	NM_000527.5	NP_000518.1:p.(Glu288Lys)	NC_000019.9:g.11218112G>A	(Likely) pathogenic	1 lab	054944ebee
5:151784191 NMUR2 G>A	5	151784191	151784191	G	A	NMUR2	c.484C>T	NM_020167.5	NP_064552.3:p.(Arg162Trp)	NC_000005.9:g.151784191G>A	VUS	1 lab	054a57890c
9:135202908 SETX TTG>T	9	135202908	135202912	TTG	T	SETX	c.4075_4076del	NM_001351527.2	NP_001338456.1:p.(Gln1359LysfsTer3)	NC_000009.11:g.135202911_135202912del	(Likely) pathogenic	1 lab	054e2172fc
X:356292 MISSING G>Alt too long to show for this DUP	X	356292	676468	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.356293_676468dup	VUS	1 lab	054fee16b3
6:7566726 DSP G>A	6	7566726	7566726	G	A	DSP	c.1044+12G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566726G>A	(Likely) benign	1 lab	05509d20c4
10:124266191 HTRA1 G>A	10	124266191	124266191	G	A	HTRA1	c.778-16G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124266191G>A	(Likely) benign	1 lab	0550ad8993
4:100512411 MTTP G>A	4	100512411	100512411	G	A	MTTP	c.521G>A	NM_000253.4	NP_000244.2:p.(Cys174Tyr)	NC_000004.11:g.100512411G>A	(Likely) pathogenic	1 lab	0551419df4
6:75839870 COL12A1 A>C	6	75839870	75839870	A	C	COL12A1	c.6147T>G	NM_004370.6	NP_004361.3:p.(Asp2049Glu)	NC_000006.11:g.75839870A>C	VUS	1 lab	0553ef4af0
11:47366437 MYBPC3 G>T	11	47366437	47366437	G	T	MYBPC3	c.1091-1262C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366437G>T	(Likely) benign	1 lab	0555cd621f
14:23888797 MYH7 G>C	14	23888797	23888797	G	C	MYH7	c.3748C>G	NM_000257.4	NP_000248.2:p.(Arg1250Gly)	NC_000014.8:g.23888797G>C	(Likely) pathogenic	1 lab	055a31e247
17:6358967 PITPNM3 C>CGGAGGGCAGG	17	6358967	6358998	C	CGGAGGGCAGG	PITPNM3	c.2620-14_2620-5dup	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6358989_6358998dup	(Likely) benign	1 lab	055d5296e9
8:133883671 TG C>T	8	133883671	133883671	C	T	TG	c.353C>T	NM_003235.5	NP_003226.4:p.(Pro118Leu)	NC_000008.10:g.133883671C>T	(Likely) benign	1 lab	05600860cd
14:23858244 MYH6 A>G	14	23858244	23858244	A	G	MYH6	c.3999T>C	NM_002471.4	NP_002462.2:p.(His1333=)	NC_000014.8:g.23858244A>G	(Likely) benign	1 lab	0561fee242
16:68855937 CDH1 T>C	16	68855937	68855937	T	C	CDH1	c.1745T>C	NM_004360.5	NP_004351.1:p.(Leu582Pro)	NC_000016.9:g.68855937T>C	VUS	1 lab	0563236845
1:94497323 ABCA4 G>A	1	94497323	94497323	G	A	ABCA4	c.4128+11C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94497323G>A	(Likely) benign	1 lab	0564a75e4e
17:41242937 BRCA1 T>C	17	41242937	41242937	T	C	BRCA1	c.4185+24A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242937T>C	(Likely) benign	1 lab	056620cfe0
1:78392746 NEXN G>GC	1	78392746	78392747	G	GC	NEXN	c.864+170dup	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392747dup	(Likely) benign	1 lab	0569945848
1:3329337 PRDM16 C>T	1	3329337	3329337	C	T	PRDM16	c.2576C>T	NM_022114.4	NP_071397.3:p.(Ser859Leu)	NC_000001.10:g.3329337C>T	VUS	1 lab	0569fafb62
11:35641047 FJX1 A>G	11	35641047	35641047	A	G	FJX1	c.863A>G	NM_014344.4	NP_055159.2:p.(Gln288Arg)	NC_000011.9:g.35641047A>G	VUS	1 lab	056a871d92
1:55525194 PCSK9 C>T	1	55525194	55525194	C	T	PCSK9	c.1539C>T	NM_174936.4	NP_777596.2:p.(Asn513=)	NC_000001.10:g.55525194C>T	(Likely) benign	1 lab	056ad208ac
2:21233330 APOB T>A	2	21233330	21233330	T	A	APOB	c.6410A>T	NM_000384.3	NP_000375.3:p.(His2137Leu)	NC_000002.11:g.21233330T>A	VUS	1 lab	056baa6128
2:179481360 TTN G>GA	2	179481360	179481368	G	GA	TTN	c.48161-4dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481368dup	(Likely) benign	1 lab	056bb3389d
2:44040415 ABCG5 A>G	2	44040415	44040415	A	G	ABCG5	c.1796T>C	NM_022436.3	NP_071881.1:p.(Met599Thr)	NC_000002.11:g.44040415A>G	VUS	1 lab	0572ce7309
12:2324011 CACNA1C A>Alt too long to show for this DUP	12	2324011	2691591	A	Alt too long to show for this DUP	CACNA1C	c.477+94418_2104-397dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2324014_2691591dup	VUS	1 lab	0577e9fa0b
2:50892646 NRXN1 Ref too long to show for this DEL>A	2	50892646	50953126	Ref too long to show for this DEL	A	NRXN1	c.833-102373_833-41894del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50892647_50953126del	VUS	1 lab	057befc797
10:8007448 TAF3 A>G	10	8007448	8007448	A	G	TAF3	c.1975A>G	NM_031923.4	NP_114129.1:p.(Lys659Glu)	NC_000010.10:g.8007448A>G	(Likely) benign	1 lab	05b52869ad
16:1004404 LMF1 A>T	16	1004404	1004404	A	T	LMF1	c.456T>A	NM_022773.4	NP_073610.2:p.(Ala152=)	NC_000016.9:g.1004404A>T	VUS	1 lab	0580bc236c
2:58392874 FANCL G>A	2	58392874	58392874	G	A	FANCL	c.691C>T	NM_001114636.1	NP_001108108.1:p.(Arg231Cys)	NC_000002.11:g.58392874G>A	VUS	1 lab	058438f0ec
9:107651444 ABCA1 T>C	9	107651444	107651444	T	C	ABCA1	c.99A>G	NM_005502.4	NP_005493.2:p.(Leu33=)	NC_000009.11:g.107651444T>C	(Likely) benign	1 lab	0585314c77
8:19818969 LPL C>G	8	19818969	19818969	C	G	LPL	c.1322+375C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818969C>G	(Likely) benign	1 lab	058a409598
15:58840718 LIPC G>GGAGAAA	15	58840718	58840722	G	GGAGAAA	LIPC	c.1001_1002insAAAGAG	NM_000236.3	NP_000227.2:p.(Arg333_Ser334insArgLys)	NC_000015.9:g.58840721_58840722insAAAGAG	VUS	1 lab	058cdd5d1a
16:28883093 SH2B1 T>A	16	28883093	28883093	T	A	SH2B1	c.1310-8T>A	NM_015503.3	NP_056318.2:p.?	NC_000016.9:g.28883093T>A	(Likely) benign	1 lab	0591b05950
8:100887907 VPS13B G>GTGTT	8	100887907	100887912	G	GTGTT	VPS13B	c.*15_*18dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100887909_100887912dup	(Likely) benign	1 lab	0598ebb9e6
7:100852251 PLOD3 C>T	7	100852251	100852251	C	T	PLOD3	c.1684-13G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100852251C>T	(Likely) benign	1 lab	05994d3e0b
10:26991067 PDSS1 CG>C	10	26991067	26991068	CG	C	PDSS1	c.-464-23del	NM_001321979.2	NP_001308908.1:p.?	NC_000010.10:g.26991068del	(Likely) benign	1 lab	05998fffff
16:88501945 ZNF469 G>A	16	88501945	88501945	G	A	ZNF469	c.8067G>A	NM_001367624.2	NP_001354553.1:p.(Gly2689=)	NC_000016.9:g.88501945G>A	(Likely) benign	1 lab	059b25b17b
5:177419878 PROP1 G>A	5	177419878	177419878	G	A	PROP1	c.513C>T	NM_006261.5	NP_006252.4:p.(Tyr171=)	NC_000005.9:g.177419878G>A	(Likely) benign	1 lab	059b59f279
18:47108712 LIPG T>C	18	47108712	47108712	T	C	LIPG	c.1037-20T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108712T>C	(Likely) benign	1 lab	059f36240e
18:21115592 NPC1 C>T	18	21115592	21115592	C	T	NPC1	c.3318G>A	NM_000271.5	NP_000262.2:p.(Leu1106=)	NC_000018.9:g.21115592C>T	(Likely) pathogenic	1 lab	059f58c2a5
11:47356137 MYBPC3 T>A	11	47356137	47356137	T	A	MYBPC3	c.2905+456A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356137T>A	(Likely) benign	1 lab	059f7c5eab
4:100533973 MTTP C>A	4	100533973	100533973	C	A	MTTP	c.1990-97C>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100533973C>A	(Likely) benign	1 lab	05a3a4c33e
15:85411682 ALPK3 CG>C	15	85411682	85411684	CG	C	ALPK3	c.5115del	NM_020778.5	NP_065829.4:p.(Ter1706SerextTer49)	NC_000015.9:g.85411684del	VUS	1 lab	05a772bdb0
15:44016489 MISSING T>Alt too long to show for this DUP	15	44016489	44257485	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.44016490_44257485dup	VUS	1 lab	05a8edc15a
19:38946103 RYR1 G>A	19	38946103	38946103	G	A	RYR1	c.1589G>A	NM_000540.3	NP_000531.2:p.(Arg530His)	NC_000019.9:g.38946103G>A	(Likely) pathogenic	1 lab	05aa15173a
12:32794959 FGD4 T>G	12	32794959	32794959	T	G	FGD4	c.*1492T>G	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32794959T>G	(Likely) benign	1 lab	05aa50a45f
2:44065782 ABCG5 T>C	2	44065782	44065782	T	C	ABCG5	c.37A>G	NM_022436.3	NP_071881.1:p.(Met13Val)	NC_000002.11:g.44065782T>C	(Likely) benign	1 lab	05ab6c5919
2:21233705 APOB C>T	2	21233705	21233705	C	T	APOB	c.6035G>A	NM_000384.3	NP_000375.3:p.(Arg2012Gln)	NC_000002.11:g.21233705C>T	VUS	1 lab	05ac180ca9
1:12020703 PLOD1 GA>G	1	12020703	12020704	GA	G	PLOD1	c.977del	NM_000302.4	NP_000293.2:p.(Glu326GlyfsTer22)	NC_000001.10:g.12020704del	(Likely) pathogenic	1 lab	05acfc0431
22:26875240 HPS4 A>G	22	26875240	26875240	A	G	HPS4	c.123T>C	NM_022081.6	NP_071364.4:p.(Tyr41=)	NC_000022.10:g.26875240A>G	(Likely) benign	1 lab	05ad6c0746
2:179575446 TTN C>G	2	179575446	179575446	C	G	TTN	c.28378G>C	NM_001267550.2	NP_001254479.2:p.(Asp9460His)	NC_000002.11:g.179575446C>G	VUS	1 lab	05add51c3e
8:59410632 CYP7A1 C>T	8	59410632	59410632	C	T	CYP7A1	c.321+156G>A	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59410632C>T	(Likely) benign	1 lab	05af7bd338
10:18803448 CACNB2 A>C	10	18803448	18803448	A	C	CACNB2	c.595A>C	NM_001167945.2	NP_001161417.1:p.(Lys199Gln)	NC_000010.10:g.18803448A>C	VUS	1 lab	05b153b055
19:47745589 MISSING Ref too long to show for this DEL>G	19	47745589	47823090	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.47745591_47823090del	VUS	1 lab	05b3abb11b
3:14180756 TMEM43 T>G	3	14180756	14180756	T	G	TMEM43	c.959T>G	NM_024334.3	NP_077310.1:p.(Phe320Cys)	NC_000003.11:g.14180756T>G	VUS	1 lab	05b60c36e2
1:19681419 CAPZB Ref too long to show for this DEL>A	1	19681419	19695803	Ref too long to show for this DEL	A	CAPZB	c.329+9232_588+1709del	NM_004930.5	NP_004921.1:p.?	NC_000001.10:g.19681421_19695803del	VUS	1 lab	05b6e7fe84
2:21251234 APOB G>A	2	21251234	21251234	G	A	APOB	c.1794C>T	NM_000384.3	NP_000375.3:p.(Ala598=)	NC_000002.11:g.21251234G>A	(Likely) benign	1 lab	05b7f82e05
2:27307514 EMILIN1 G>A	2	27307514	27307514	G	A	EMILIN1	c.2557+115G>A	NM_007046.4	NP_008977.1:p.?	NC_000002.11:g.27307514G>A	(Likely) benign	1 lab	05ba7fd560
2:179585744 TTN T>C	2	179585744	179585744	T	C	TTN	c.19270A>G	NM_133378.4	NP_596869.4:p.(Ile6424Val)	NC_000002.11:g.179585744T>C	VUS	1 lab	05ba8e32bd
2:44059330 ABCG5 A>G	2	44059330	44059330	A	G	ABCG5	c.266-108T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059330A>G	(Likely) benign	1 lab	05ba8ff842
6:152576010 SYNE1 C>T	6	152576010	152576010	C	T	SYNE1	c.19470+5G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152576010C>T	VUS	1 lab	05bd59fa32
8:145738585 RECQL4 G>T	8	145738585	145738585	G	T	RECQL4	c.2463+16C>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738585G>T	(Likely) benign	1 lab	05c326d5df
1:63067991 ANGPTL3 G>A	1	63067991	63067991	G	A	ANGPTL3	c.871G>A	NM_014495.4	NP_055310.1:p.(Gly291Arg)	NC_000001.10:g.63067991G>A	(Likely) pathogenic	1 lab	05c35866e8
1:6557009 PLEKHG5 A>C	1	6557009	6557009	A	C	PLEKHG5	c.-164-380T>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6557009A>C	(Likely) benign	1 lab	05e6c7b6d8
12:124330623 DNAH10 C>T	12	124330623	124330623	C	T	DNAH10	c.5382C>T	NM_207437.3	NP_997320.2:p.(Tyr1794=)	NC_000012.11:g.124330623C>T	(Likely) benign	1 lab	05d24e30e3
7:75932011 HSPB1 C>T	7	75932011	75932011	C	T	HSPB1	c.-19C>T	NM_001540.5	NP_001531.1:p.?	NC_000007.13:g.75932011C>T	(Likely) benign	1 lab	05d54684c5
14:105417725 AHNAK2 C>G	14	105417725	105417725	C	G	AHNAK2	c.4063G>C	NM_138420.4	NP_612429.2:p.(Ala1355Pro)	NC_000014.8:g.105417725C>G	(Likely) benign	1 lab	05d6af7ae4
13:32920973 BRCA2 A>G	13	32920973	32920973	A	G	BRCA2	c.6947A>G	NM_000059.4	NP_000050.3:p.(Lys2316Arg)	NC_000013.10:g.32920973A>G	(Likely) benign	1 lab	05db353981
10:122624668 WDR11 GT>G	10	122624668	122624669	GT	G	WDR11	c.824del	NM_018117.12	NP_060587.8:p.(Val275GlyfsTer7)	NC_000010.10:g.122624669del	(Likely) pathogenic	1 lab	05dba65058
22:40975174 MISSING T>Alt too long to show for this DUP	22	40975174	41674332	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.40975176_41674332dup	VUS	1 lab	05dbb366b7
5:138269613 CTNNA1 C>A	5	138269613	138269613	C	A	CTNNA1	c.2556C>A	NM_001903.5	NP_001894.2:p.(Leu852=)	NC_000005.9:g.138269613C>A	(Likely) benign	1 lab	05e2d86c5f
2:21233084 APOB C>T	2	21233084	21233084	C	T	APOB	c.6656G>A	NM_000384.3	NP_000375.3:p.(Arg2219His)	NC_000002.11:g.21233084C>T	VUS	1 lab	05e6a80e71
18:45391419 SMAD2 A>T	18	45391419	45391419	A	T	SMAD2	c.730+11T>A	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45391419A>T	(Likely) benign	1 lab	05e8a653fe
13:96566331 UGGT2 Ref too long to show for this DEL>T	13	96566331	96618338	Ref too long to show for this DEL	T	UGGT2	c.1335+4029_2296-11018del	NM_020121.4	NP_064506.3:p.?	NC_000013.10:g.96566333_96618338del	VUS	1 lab	05e8e38955
8:133900824 TG G>T	8	133900824	133900824	G	T	TG	c.2761+11G>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133900824G>T	(Likely) benign	1 lab	05ee67bf5e
5:149450003 CSF1R C>A	5	149450003	149450003	C	A	CSF1R	c.1198+16G>T	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149450003C>A	(Likely) benign	1 lab	05f98a46a2
22:50682578 TUBGCP6 A>G	22	50682578	50682578	A	G	TUBGCP6	c.311T>C	NM_020461.4	NP_065194.3:p.(Leu104Pro)	NC_000022.10:g.50682578A>G	(Likely) benign	1 lab	0608d60eee
16:3640271 SLX4 G>T	16	3640271	3640271	G	T	SLX4	c.3368C>A	NM_032444.4	NP_115820.2:p.(Ser1123Tyr)	NC_000016.9:g.3640271G>T	(Likely) benign	1 lab	06096f82cb
7:128480662 FLNC AC>A	7	128480662	128480663	AC	A	FLNC	c.1611del	NM_001458.5	NP_001449.3:p.(Tyr538ThrfsTer10)	NC_000007.13:g.128480663del	(Likely) pathogenic	1 lab	060a244534
11:116701338 APOC3 C>T	11	116701338	116701338	C	T	APOC3	c.40C>T	NM_000040.3	NP_000031.1:p.(Leu14Phe)	NC_000011.9:g.116701338C>T	VUS	1 lab	060c2f46a0
9:139396950 NOTCH1 C>T	9	139396950	139396950	C	T	NOTCH1	c.5168-10G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139396950C>T	(Likely) benign	1 lab	060c7d242d
9:98231113 PTCH1 C>T	9	98231113	98231113	C	T	PTCH1	c.2170G>A	NM_000264.5	NP_000255.2:p.(Glu724Lys)	NC_000009.11:g.98231113C>T	(Likely) benign	1 lab	060fb10757
13:32906667 BRCA2 A>AATACTCATTTGTATCT	13	32906667	32906683	A	AATACTCATTTGTATCT	BRCA2	c.1053_1068dup	NM_000059.4	NP_000050.3:p.(Glu357IlefsTer6)	NC_000013.10:g.32906668_32906683dup	(Likely) pathogenic	1 lab	0610773c06
5:180055862 FLT4 T>C	5	180055862	180055862	T	C	FLT4	c.1103+20A>G	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180055862T>C	(Likely) benign	1 lab	061102a167
4:113352647 ALPK1 C>T	4	113352647	113352647	C	T	ALPK1	c.1944C>T	NM_025144.4	NP_079420.3:p.(Leu648=)	NC_000004.11:g.113352647C>T	(Likely) benign	1 lab	06110fea63
12:2757623 CACNA1C A>G	12	2757623	2757623	A	G	CACNA1C	c.3913-18A>G	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2757623A>G	(Likely) benign	1 lab	0611c9702e
1:21896823 ALPL C>T	1	21896823	21896823	C	T	ALPL	c.818C>T	NM_000478.6	NP_000469.3:p.(Thr273Met)	NC_000001.10:g.21896823C>T	(Likely) benign	1 lab	061278aa0f
5:127730898 FBN2 A>T	5	127730898	127730898	A	T	FBN2	c.1148T>A	NM_001999.4	NP_001990.2:p.(Met383Lys)	NC_000005.9:g.127730898A>T	(Likely) benign	1 lab	0613d6f7bd
10:68139032 CTNNA3 G>A	10	68139032	68139032	G	A	CTNNA3	c.1610C>T	NM_013266.4	NP_037398.2:p.(Ala537Val)	NC_000010.10:g.68139032G>A	VUS	1 lab	061785d03d
2:15415770 NBAS C>T	2	15415770	15415770	C	T	NBAS	c.5562G>A	NM_015909.4	NP_056993.2:p.(Leu1854=)	NC_000002.11:g.15415770C>T	(Likely) benign	1 lab	06182fc9ed
10:73560496 CDH23 G>A	10	73560496	73560496	G	A	CDH23	c.7466G>A	NM_022124.6	NP_071407.4:p.(Arg2489His)	NC_000010.10:g.73560496G>A	VUS	1 lab	061841c841
10:112569877 RBM20 T>G	10	112569877	112569877	T	G	RBM20	c.1801-264T>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112569877T>G	(Likely) benign	1 lab	06199d2a28
X:70443702 GJB1 TCTTC>T	X	70443702	70443710	TCTTC	T	GJB1	c.150_153del	NM_000166.6	NP_000157.1:p.(Phe51SerfsTer32)	NC_000023.10:g.70443707_70443710del	(Likely) pathogenic	1 lab	061d11d5d7
12:977296 WNK1 T>C	12	977296	977296	T	C	WNK1	c.2404T>C	NM_001184985.2	NP_001171914.1:p.(Leu802=)	NC_000012.11:g.977296T>C	(Likely) benign	1 lab	061f7338e6
17:41245410 BRCA1 G>C	17	41245410	41245410	G	C	BRCA1	c.2138C>G	NM_007294.4	NP_009225.1:p.(Ser713Ter)	NC_000017.10:g.41245410G>C	(Likely) pathogenic	1 lab	0623354fc9
18:56279052 ALPK2 G>GA	18	56279052	56279065	G	GA	ALPK2	c.-20-4dup	NM_052947.4	NP_443179.3:p.?	NC_000018.9:g.56279065dup	(Likely) benign	1 lab	0624de63cf
22:51125549 MISSING Ref too long to show for this DEL>G	22	51125549	51178264	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.51125551_51178264del	(Likely) pathogenic	1 lab	06257faffa
16:984083 LMF1 C>A	16	984083	984083	C	A	LMF1	c.23G>T	NM_001352018.2	NP_001338947.1:p.(Arg8Leu)	NC_000016.9:g.984083C>A	VUS	1 lab	0626bf9a30
16:4102906 MISSING Ref too long to show for this DEL>A	16	4102906	4225845	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.4102907_4225845del	VUS	1 lab	062873e2b0
2:179478663 TTN A>G	2	179478663	179478663	A	G	TTN	c.49347T>C	NM_001267550.2	NP_001254479.2:p.(Asp16449=)	NC_000002.11:g.179478663A>G	(Likely) benign	1 lab	062aebe564
X:70443566 GJB1 G>A	X	70443566	70443566	G	A	GJB1	c.9G>A	NM_000166.6	NP_000157.1:p.(Trp3Ter)	NC_000023.10:g.70443566G>A	(Likely) pathogenic	1 lab	062c706648
3:171427347 PLD1 T>TA	3	171427347	171427348	T	TA	PLD1	c.1061+2dup	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171427348dup	VUS	1 lab	062def8b44
22:29105986 CHEK2 ATACT>A	22	29105986	29105993	ATACT	A	CHEK2	c.846+4_846+7del	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29105990_29105993del	(Likely) pathogenic	1 lab	062e8524ce
11:84276010 DLG2 Ref too long to show for this DEL>T	11	84276010	84634432	Ref too long to show for this DEL	T	DLG2	c.357+188275_358-30237del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84276013_84634432del	VUS	1 lab	062f38b1f6
17:10312472 MYH8 G>A	17	10312472	10312472	G	A	MYH8	c.1907C>T	NM_002472.3	NP_002463.2:p.(Ala636Val)	NC_000017.10:g.10312472G>A	(Likely) benign	1 lab	0632dc5fbf
14:45650888 FANCM C>T	14	45650888	45650888	C	T	FANCM	c.4366C>T	NM_020937.4	NP_065988.1:p.(Arg1456Cys)	NC_000014.8:g.45650888C>T	(Likely) benign	1 lab	0636127adb
1:55505707 PCSK9 G>A	1	55505707	55505707	G	A	PCSK9	c.197G>A	NM_174936.4	NP_777596.2:p.(Arg66His)	NC_000001.10:g.55505707G>A	VUS	1 lab	0638dcba38
8:42705987 RNF170 G>A	8	42705987	42705987	G	A	RNF170	c.550C>T	NM_001160224.2	NP_001153696.1:p.(Arg184Cys)	NC_000008.10:g.42705987G>A	(Likely) benign	1 lab	0639d95063
11:47353600 MYBPC3 C>A	11	47353600	47353600	C	A	MYBPC3	c.3814+23G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353600C>A	(Likely) benign	1 lab	063b6d2082
6:75861915 COL12A1 T>C	6	75861915	75861915	T	C	COL12A1	c.3767A>G	NM_004370.6	NP_004361.3:p.(His1256Arg)	NC_000006.11:g.75861915T>C	VUS	1 lab	063c25feb0
2:45169394 SIX3 G>C	2	45169394	45169394	G	C	SIX3	c.151G>C	NM_005413.4	NP_005404.1:p.(Gly51Arg)	NC_000002.11:g.45169394G>C	VUS	1 lab	064191b95c
16:920215 LMF1 A>G	16	920215	920215	A	G	LMF1	c.834-149T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920215A>G	(Likely) benign	1 lab	0643cc2906
12:59276751 LRIG3 C>T	12	59276751	59276751	C	T	LRIG3	c.1380G>A	NM_153377.5	NP_700356.2:p.(Ala460=)	NC_000012.11:g.59276751C>T	(Likely) benign	1 lab	0644ffa657
6:32010722 TNXB G>C	6	32010722	32010722	G	C	TNXB	c.11919+6C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010722G>C	(Likely) benign	1 lab	06450d2987
10:18439784 CACNB2 C>CTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTT	CACNB2	c.37-16_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439796_18439809dup	(Likely) benign	1 lab	0647550c87
19:47259181 FKRP C>G	19	47259181	47259181	C	G	FKRP	c.474C>G	NM_001039885.3	NP_001034974.1:p.(Ala158=)	NC_000019.9:g.47259181C>G	(Likely) benign	1 lab	0649d72d26
3:38672108 SCN5A G>A	3	38672108	38672108	G	A	SCN5A	c.274-188C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38672108G>A	(Likely) benign	1 lab	064a70965a
10:73590922 PSAP G>A	10	73590922	73590922	G	A	PSAP	c.336C>T	NM_002778.4	NP_002769.1:p.(Ser112=)	NC_000010.10:g.73590922G>A	(Likely) benign	1 lab	064a97c78f
7:147600706 CNTNAP2 C>G	7	147600706	147600706	C	G	CNTNAP2	c.2148C>G	NM_014141.6	NP_054860.1:p.(Tyr716Ter)	NC_000007.13:g.147600706C>G	(Likely) pathogenic	1 lab	0650b8561f
10:79176064 MISSING C>Alt too long to show for this DUP	10	79176064	79867248	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.79176065_79867248dup	VUS	1 lab	0653e22c31
1:74835278 TNNI3K C>A	1	74835278	74835278	C	A	TNNI3K	c.1667+9C>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74835278C>A	(Likely) benign	1 lab	065545959b
2:73675580 ALMS1 C>T	2	73675580	73675580	C	T	ALMS1	c.1929C>T	NM_015120.4	NP_055935.4:p.(Thr643=)	NC_000002.11:g.73675580C>T	(Likely) benign	1 lab	0658dd01c7
15:23890592 MAGEL2 T>C	15	23890592	23890592	T	C	MAGEL2	c.2298A>G	NM_019066.5	NP_061939.3:p.(Arg766=)	NC_000015.9:g.23890592T>C	(Likely) benign	1 lab	065b2edc7e
11:31278627 MISSING Ref too long to show for this DEL>A	11	31278627	31701928	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.31278628_31701928del	(Likely) pathogenic	1 lab	065bcdbbc5
13:100498905 CLYBL Ref too long to show for this DEL>G	13	100498905	100505491	Ref too long to show for this DEL	G	CLYBL	c.250-12208_250-5624del	NM_206808.5	NP_996531.1:p.?	NC_000013.10:g.100498907_100505491del	VUS	1 lab	065ce9caae
3:4817063 ITPR1 G>A	3	4817063	4817063	G	A	ITPR1	c.6072G>A	NM_001168272.2	NP_001161744.1:p.(Ala2024=)	NC_000003.11:g.4817063G>A	(Likely) benign	1 lab	065d18546e
9:79835312 VPS13A ATT>A	9	79835312	79835327	ATT	A	VPS13A	c.989+27_989+28del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79835326_79835327del	(Likely) benign	1 lab	065d330196
6:16145296 MYLIP T>C	6	16145296	16145296	T	C	MYLIP	c.996T>C	NM_013262.4	NP_037394.2:p.(Asn332=)	NC_000006.11:g.16145296T>C	(Likely) benign	1 lab	065d61a986
9:139400034 NOTCH1 G>A	9	139400034	139400034	G	A	NOTCH1	c.4314C>T	NM_017617.5	NP_060087.3:p.(Arg1438=)	NC_000009.11:g.139400034G>A	(Likely) benign	1 lab	065f0f0bd7
10:85956264 CDHR1 C>T	10	85956264	85956264	C	T	CDHR1	c.155C>T	NM_033100.4	NP_149091.1:p.(Ser52Phe)	NC_000010.10:g.85956264C>T	VUS	1 lab	0661566378
12:32735370 FGD4 T>A	12	32735370	32735370	T	A	FGD4	c.569T>A	NM_139241.3	NP_640334.2:p.(Leu190Gln)	NC_000012.11:g.32735370T>A	VUS	1 lab	0661dd58ef
9:107583755 ABCA1 G>A	9	107583755	107583755	G	A	ABCA1	c.2861C>T	NM_005502.4	NP_005493.2:p.(Ser954Leu)	NC_000009.11:g.107583755G>A	VUS	1 lab	06625298df
8:19805815 LPL C>T	8	19805815	19805815	C	T	LPL	c.213C>T	NM_000237.3	NP_000228.1:p.(His71=)	NC_000008.10:g.19805815C>T	(Likely) benign	1 lab	0664a8c339
10:64578849 EGR2 A>T	10	64578849	64578849	A	T	EGR2	c.-148+17T>A	NM_001136178.2	NP_001129650.1:p.?	NC_000010.10:g.64578849A>T	(Likely) benign	1 lab	0667077080
1:218458715 RRP15 C>A	1	218458715	218458715	C	A	RRP15	c.57C>A	NM_016052.4	NP_057136.2:p.(Thr19=)	NC_000001.10:g.218458715C>A	(Likely) benign	1 lab	066735eed1
19:11216561 LDLR A>C	19	11216561	11216561	A	C	LDLR	c.694+285A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216561A>C	(Likely) benign	1 lab	0668c8c7ef
12:49448505 KMT2D C>G	12	49448505	49448505	C	G	KMT2D	c.206G>C	NM_003482.4	NP_003473.3:p.(Cys69Ser)	NC_000012.11:g.49448505C>G	VUS	1 lab	0668d86e3d
3:123458646 MYLK G>A	3	123458646	123458646	G	A	MYLK	c.422+154C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123458646G>A	(Likely) benign	1 lab	066983edfd
4:177648994 VEGFC C>A	4	177648994	177648994	C	A	VEGFC	c.490G>T	NM_005429.5	NP_005420.1:p.(Gly164Cys)	NC_000004.11:g.177648994C>A	VUS	1 lab	0669f49537
14:102516502 DYNC1H1 C>G	14	102516502	102516502	C	G	DYNC1H1	c.13779C>G	NM_001376.5	NP_001367.2:p.(Val4593=)	NC_000014.8:g.102516502C>G	(Likely) benign	1 lab	066b0d3ef7
14:105177287 INF2 C>T	14	105177287	105177287	C	T	INF2	c.2253C>T	NM_022489.4	NP_071934.3:p.(Ser751=)	NC_000014.8:g.105177287C>T	(Likely) benign	1 lab	0672d5cb8c
16:86544651 FOXF1 A>G	16	86544651	86544651	A	G	FOXF1	c.476A>G	NM_001451.3	NP_001442.2:p.(Asn159Ser)	NC_000016.9:g.86544651A>G	(Likely) benign	1 lab	067800203b
19:45409802 APOE G>A	19	45409802	45409802	G	A	APOE	c.56-57G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409802G>A	(Likely) benign	1 lab	06780eb9b7
19:55667646 TNNI3 GC>G	19	55667646	55667648	GC	G	TNNI3	c.204del	NM_000363.5	NP_000354.4:p.(Arg69AlafsTer8)	NC_000019.9:g.55667648del	(Likely) pathogenic	1 lab	0679234416
6:16143437 MYLIP C>G	6	16143437	16143437	C	G	MYLIP	c.651C>G	NM_013262.4	NP_037394.2:p.(Ser217Arg)	NC_000006.11:g.16143437C>G	(Likely) benign	1 lab	067a7ec089
11:47359240 MYBPC3 C>T	11	47359240	47359240	C	T	MYBPC3	c.2413+1G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359240C>T	(Likely) pathogenic	1 lab	067f7abb9f
7:82072698 CACNA2D1 CGG>C	7	82072698	82072700	CGG	C	CACNA2D1	c.76_77del	NM_000722.4	NP_000713.2:p.(Pro26ValfsTer13)	NC_000007.13:g.82072699_82072700del	(Likely) benign	1 lab	06856569fa
6:135639654 AHI1 T>A	6	135639654	135639654	T	A	AHI1	c.3426+3A>T	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135639654T>A	VUS	1 lab	068f2ed048
9:130938641 CIZ1 C>T	9	130938641	130938641	C	T	CIZ1	c.2022G>A	NM_001257975.2	NP_001244904.1:p.(Glu674=)	NC_000009.11:g.130938641C>T	(Likely) benign	1 lab	06906a7582
12:48372523 COL2A1 C>CG	12	48372523	48372524	C	CG	COL2A1	c.2751_2752insC	NM_001844.5	NP_001835.3:p.(Gly918ArgfsTer26)	NC_000012.11:g.48372523_48372524insG	(Likely) pathogenic	1 lab	06909ef14f
7:6505853 KDELR2 G>A	7	6505853	6505853	G	A	KDELR2	c.453C>T	NM_006854.4	NP_006845.1:p.(Tyr151=)	NC_000007.13:g.6505853G>A	(Likely) benign	1 lab	0691bf6c9c
10:90695119 ACTA2 A>G	10	90695119	90695119	A	G	ACTA2	c.995T>C	NM_001613.4	NP_001604.1:p.(Ile332Thr)	NC_000010.10:g.90695119A>G	VUS	1 lab	0693b0066f
15:58834084 LIPC T>G	15	58834084	58834084	T	G	LIPC	c.374T>G	NM_000236.3	NP_000227.2:p.(Leu125Arg)	NC_000015.9:g.58834084T>G	VUS	1 lab	069626b413
1:211842435 NEK2 T>C	1	211842435	211842435	T	C	NEK2	c.985+20A>G	NM_002497.4	NP_002488.1:p.?	NC_000001.10:g.211842435T>C	(Likely) benign	1 lab	0699161cf1
3:193376785 OPA1 G>T	3	193376785	193376785	G	T	OPA1	c.2440+1G>T	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193376785G>T	(Likely) pathogenic	1 lab	069e6baf4c
13:96439294 DNAJC3 C>T	13	96439294	96439294	C	T	DNAJC3	c.1242C>T	NM_006260.5	NP_006251.1:p.(Tyr414=)	NC_000013.10:g.96439294C>T	(Likely) benign	1 lab	069fab980e
17:41245837 BRCA1 T>C	17	41245837	41245837	T	C	BRCA1	c.1711A>G	NM_007294.4	NP_009225.1:p.(Ile571Val)	NC_000017.10:g.41245837T>C	(Likely) benign	1 lab	06a03f53f0
9:135204420 SETX T>G	9	135204420	135204420	T	G	SETX	c.2565A>C	NM_015046.7	NP_055861.3:p.(Glu855Asp)	NC_000009.11:g.135204420T>G	VUS	1 lab	06a2c2b2cb
19:7606291 PNPLA6 C>T	19	7606291	7606291	C	T	PNPLA6	c.1003C>T	NM_001166111.2	NP_001159583.1:p.(Leu335=)	NC_000019.9:g.7606291C>T	(Likely) benign	1 lab	06a3df8df6
2:21228378 APOB C>T	2	21228378	21228378	C	T	APOB	c.11362G>A	NM_000384.3	NP_000375.3:p.(Glu3788Lys)	NC_000002.11:g.21228378C>T	(Likely) benign	1 lab	06a3f3540e
3:160142810 SMC4 A>ATGTGTGTGTGTGTG	3	160142810	160142841	A	ATGTGTGTGTGTGTG	SMC4	c.2478+21_2478+34dup	NM_005496.3	NP_005487.3:p.?	NC_000003.11:g.160142828_160142841dup	(Likely) benign	1 lab	06a416d55a
17:41243069 BRCA1 G>A	17	41243069	41243069	G	A	BRCA1	c.4097-20C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243069G>A	VUS	1 lab	06a45f6f3b
16:57006072 CETP G>A	16	57006072	57006072	G	A	CETP	c.750+77G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006072G>A	(Likely) benign	1 lab	06a4f747b1
12:33021869 PKP2 G>A	12	33021869	33021869	G	A	PKP2	c.1162C>T	NM_004572.4	NP_004563.2:p.(Arg388Trp)	NC_000012.11:g.33021869G>A	(Likely) pathogenic	1 lab	06a5026c36
10:85961598 CDHR1 C>T	10	85961598	85961598	C	T	CDHR1	c.561C>T	NM_033100.4	NP_149091.1:p.(Ser187=)	NC_000010.10:g.85961598C>T	(Likely) benign	1 lab	06a5922d51
2:44099258 ABCG8 G>A	2	44099258	44099258	G	A	ABCG8	c.1108G>A	NM_022437.3	NP_071882.1:p.(Glu370Lys)	NC_000002.11:g.44099258G>A	VUS	1 lab	06aa6b56b2
9:107624095 ABCA1 G>C	9	107624095	107624095	G	C	ABCA1	c.422-14C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624095G>C	(Likely) benign	1 lab	06aae85aa1
X:70443825 GJB1 C>G	X	70443825	70443825	C	G	GJB1	c.268C>G	NM_000166.6	NP_000157.1:p.(Leu90Val)	NC_000023.10:g.70443825C>G	(Likely) pathogenic	1 lab	06abcf3ca2
3:53694318 CACNA1D TTCC>T	3	53694318	53694322	TTCC	T	CACNA1D	c.766+18_766+20del	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53694320_53694322del	(Likely) benign	1 lab	06acc38121
2:1459952 TPO C>T	2	1459952	1459952	C	T	TPO	c.717C>T	NM_001206744.2	NP_001193673.1:p.(His239=)	NC_000002.11:g.1459952C>T	(Likely) benign	1 lab	06b1bd7504
11:17483297 ABCC8 G>A	11	17483297	17483297	G	A	ABCC8	c.655C>T	NM_001287174.2	NP_001274103.1:p.(Gln219Ter)	NC_000011.9:g.17483297G>A	(Likely) pathogenic	1 lab	06b6a98b90
2:179658254 TTN C>T	2	179658254	179658254	C	T	TTN	c.1413G>A	NM_001267550.2	NP_001254479.2:p.(Ala471=)	NC_000002.11:g.179658254C>T	(Likely) benign	1 lab	06b6ec92d0
19:11224126 LDLR G>A	19	11224126	11224126	G	A	LDLR	c.1358+1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224126G>A	(Likely) pathogenic	1 lab	06b89f6bd9
19:12442190 MISSING Ref too long to show for this DEL>C	19	12442190	13442182	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.12442192_13442182del	(Likely) pathogenic	1 lab	06befacab6
Y:2722817 RPS4Y1 G>GT	Y	2722817	2722827	G	GT	RPS4Y1	c.532+15dup	NM_001008.4	NP_000999.1:p.?	NC_000024.9:g.2722827dup	(Likely) benign	1 lab	06c3d3f152
2:179404679 TTN C>T	2	179404679	179404679	C	T	TTN	c.98113G>A	NM_001267550.2	NP_001254479.2:p.(Glu32705Lys)	NC_000002.11:g.179404679C>T	VUS	1 lab	06c53ac249
11:86665819 FZD4 A>AGGGGTG	11	86665819	86665835	A	AGGGGTG	FZD4	c.285+18_285+23dup	NM_012193.4	NP_036325.2:p.?	NC_000011.9:g.86665830_86665835dup	(Likely) benign	1 lab	06c5cd795a
9:107574848 ABCA1 G>A	9	107574848	107574848	G	A	ABCA1	c.4050+7C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107574848G>A	(Likely) benign	1 lab	06c921cdfb
11:1018289 MUC6 C>T	11	1018289	1018289	C	T	MUC6	c.4512G>A	NM_005961.3	NP_005952.2:p.(Pro1504=)	NC_000011.9:g.1018289C>T	(Likely) benign	1 lab	06cb1050bc
2:31012386 MISSING Ref too long to show for this DEL>T	2	31012386	31037415	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.31012392_31037415del	VUS	1 lab	06d166dcc5
8:1905309 ARHGEF10 G>A	8	1905309	1905309	G	A	ARHGEF10	c.3987G>A	NM_001308153.2	NP_001295082.1:p.(Ser1329=)	NC_000008.10:g.1905309G>A	(Likely) benign	1 lab	06d243906e
2:152422336 NEB T>C	2	152422336	152422336	T	C	NEB	c.18157-2A>G	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152422336T>C	(Likely) pathogenic	1 lab	06d3d999cb
16:72144878 DHX38 G>A	16	72144878	72144878	G	A	DHX38	c.3501G>A	NM_014003.4	NP_054722.2:p.(Glu1167=)	NC_000016.9:g.72144878G>A	(Likely) benign	1 lab	06d5b54f63
2:189856929 COL3A1 G>A	2	189856929	189856929	G	A	COL3A1	c.971G>A	NM_000090.4	NP_000081.2:p.(Gly324Asp)	NC_000002.11:g.189856929G>A	(Likely) pathogenic	1 lab	06d6af670a
3:38739949 SCN10A G>T	3	38739949	38739949	G	T	SCN10A	c.4762C>A	NM_006514.4	NP_006505.4:p.(Arg1588=)	NC_000003.11:g.38739949G>T	(Likely) benign	1 lab	06d8ecd0e9
4:114254219 ANK2 C>A	4	114254219	114254219	C	A	ANK2	c.3234C>A	NM_001148.6	NP_001139.3:p.(Ile1078=)	NC_000004.11:g.114254219C>A	(Likely) benign	1 lab	06da3d63a9
11:47358040 MYBPC3 C>CA	11	47358040	47358064	C	CA	MYBPC3	c.2603-479dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358064dup	(Likely) benign	1 lab	06dd4f208c
2:179597420 TTN G>A	2	179597420	179597420	G	A	TTN	c.16368C>T	NM_001267550.2	NP_001254479.2:p.(Pro5456=)	NC_000002.11:g.179597420G>A	(Likely) benign	1 lab	06ddaf6124
5:157161710 THG1L C>G	5	157161710	157161710	C	G	THG1L	c.495C>G	NM_017872.5	NP_060342.2:p.(Ser165Arg)	NC_000005.9:g.157161710C>G	VUS	1 lab	06df6a5e36
19:38993544 RYR1 G>A	19	38993544	38993544	G	A	RYR1	c.7860G>A	NM_000540.3	NP_000531.2:p.(Gln2620=)	NC_000019.9:g.38993544G>A	(Likely) benign	1 lab	06e20d72c0
10:116494700 MISSING Ref too long to show for this DEL>T	10	116494700	122820542	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.116494702_122820542del	(Likely) pathogenic	1 lab	06e51ddea0
9:107555711 ABCA1 C>G	9	107555711	107555711	C	G	ABCA1	c.5507-130G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555711C>G	(Likely) benign	1 lab	06e5f71e87
10:91007603 LIPA T>TTTTA	10	91007603	91007640	T	TTTTA	LIPA	c.-1-201_-1-198dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007637_91007640dup	(Likely) benign	1 lab	06ec545b34
2:179455398 TTN C>T	2	179455398	179455398	C	T	TTN	c.61054G>A	NM_001267550.2	NP_001254479.2:p.(Gly20352Arg)	NC_000002.11:g.179455398C>T	VUS	1 lab	06ed6dca46
8:101721709 PABPC1 T>A	8	101721709	101721709	T	A	PABPC1	c.1223A>T	NM_002568.4	NP_002559.2:p.(Tyr408Phe)	NC_000008.10:g.101721709T>A	(Likely) benign	1 lab	06ee67cebe
22:46765577 CELSR1 C>T	22	46765577	46765577	C	T	CELSR1	c.7872+12G>A	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46765577C>T	(Likely) benign	1 lab	06f4821141
2:63490778 WDPCP Ref too long to show for this DEL>C	2	63490778	63714633	Ref too long to show for this DEL	C	WDPCP	c.161-5_1813-4235del	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63490779_63714633del	VUS	1 lab	06fa448d4f
12:133202739 POLE G>A	12	133202739	133202739	G	A	POLE	c.6495C>T	NM_006231.4	NP_006222.2:p.(Arg2165=)	NC_000012.11:g.133202739G>A	(Likely) benign	1 lab	06fb728cea
17:79504111 FSCN2 G>A	17	79504111	79504111	G	A	FSCN2	c.*5G>A	NM_001077182.3	NP_001070650.1:p.?	NC_000017.10:g.79504111G>A	(Likely) benign	1 lab	06fd3c710e
10:16553050 PTER G>A	10	16553050	16553050	G	A	PTER	c.845G>A	NM_030664.5	NP_109589.2:p.(Arg282His)	NC_000010.10:g.16553050G>A	(Likely) benign	1 lab	06fef1f9ae
6:56417729 DST C>T	6	56417729	56417729	C	T	DST	c.9504G>A	NM_001144769.5	NP_001138241.1:p.(Arg3168=)	NC_000006.11:g.56417729C>T	(Likely) benign	1 lab	0702565236
2:179483160 TTN G>A	2	179483160	179483160	G	A	TTN	c.39321C>T	NM_133378.4	NP_596869.4:p.(Ser13107=)	NC_000002.11:g.179483160G>A	(Likely) benign	1 lab	0702637892
10:12142286 DHTKD1 G>GTTTTTTT	10	12142286	12142300	G	GTTTTTTT	DHTKD1	c.1756+33_1756+39dup	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142294_12142300dup	(Likely) benign	1 lab	0703c17f5c
20:56227532 PMEPA1 T>C	20	56227532	56227532	T	C	PMEPA1	c.441A>G	NM_020182.5	NP_064567.2:p.(Pro147=)	NC_000020.10:g.56227532T>C	(Likely) benign	1 lab	07051746ae
8:59407079 CYP7A1 T>C	8	59407079	59407079	T	C	CYP7A1	c.1025A>G	NM_000780.4	NP_000771.2:p.(Asp342Gly)	NC_000008.10:g.59407079T>C	VUS	1 lab	070565f51d
X:108868141 KCNE5 T>C	X	108868141	108868141	T	C	KCNE5	c.109A>G	NM_012282.4	NP_036414.1:p.(Met37Val)	NC_000023.10:g.108868141T>C	VUS	1 lab	0706e740bd
12:50501932 GPD1 C>G	12	50501932	50501932	C	G	GPD1	c.953+19C>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501932C>G	(Likely) benign	1 lab	0707887c82
X:100662795 GLA C>G	X	100662795	100662795	C	G	GLA	c.97G>C	NM_000169.3	NP_000160.1:p.(Asp33His)	NC_000023.10:g.100662795C>G	(Likely) pathogenic	1 lab	070844e1da
18:13240837 LDLRAD4 G>Alt too long to show for this DUP	18	13240837	13530125	G	Alt too long to show for this DUP	LDLRAD4	c.-467+21851_182-90991dup	NM_001378100.1	NP_001365029.1:p.?	NC_000018.9:g.13240838_13530125dup	VUS	1 lab	070d8f705f
17:39920786 JUP G>GGAAA	17	39920786	39920787	G	GGAAA	JUP	c.1158+178_1158+179insTTTC	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39920786_39920787insGAAA	(Likely) benign	1 lab	070e1ba796
2:166201266 SCN2A C>T	2	166201266	166201266	C	T	SCN2A	c.2764C>T	NM_021007.3	NP_066287.2:p.(Arg922Cys)	NC_000002.11:g.166201266C>T	(Likely) pathogenic	1 lab	070f4b6a81
3:123376274 MYLK A>T	3	123376274	123376274	A	T	MYLK	c.3987T>A	NM_053025.4	NP_444253.3:p.(Asp1329Glu)	NC_000003.11:g.123376274A>T	(Likely) benign	1 lab	071016c0bc
5:177031554 B4GALT7 C>G	5	177031554	177031554	C	G	B4GALT7	c.413+12C>G	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177031554C>G	(Likely) benign	1 lab	0714cb222e
11:117184634 MISSING A>Alt too long to show for this DUP	11	117184634	117225882	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117184635_117225882dup	VUS	1 lab	071d4a7520
1:3334514 PRDM16 G>A	1	3334514	3334514	G	A	PRDM16	c.2814G>A	NM_022114.4	NP_071397.3:p.(Thr938=)	NC_000001.10:g.3334514G>A	(Likely) benign	1 lab	071e1b871e
19:13339531 CACNA1A A>C	19	13339531	13339531	A	C	CACNA1A	c.5610T>G	NM_001127221.2	NP_001120693.1:p.(Pro1870=)	NC_000019.9:g.13339531A>C	(Likely) benign	1 lab	071f1a7c2f
2:21263961 APOB A>G	2	21263961	21263961	A	G	APOB	c.238-6T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21263961A>G	(Likely) benign	1 lab	072718e838
10:51461278 TIMM23B Ref too long to show for this DEL>C	10	51461278	51664079	Ref too long to show for this DEL	C	TIMM23B	c.514+73517_515-68693del	NM_001290117.2	NP_001277046.1:p.?	NC_000010.10:g.51461280_51664079del	VUS	1 lab	072d515a78
10:48388462 RBP3 G>A	10	48388462	48388462	G	A	RBP3	c.2416C>T	NM_002900.3	NP_002891.1:p.(Arg806Cys)	NC_000010.10:g.48388462G>A	(Likely) benign	1 lab	072f259b04
15:22770419 MISSING Ref too long to show for this DEL>A	15	22770419	23282906	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770423_23282906del	(Likely) pathogenic	1 lab	072f66ecd8
5:127609649 FBN2 A>G	5	127609649	127609649	A	G	FBN2	c.7723T>C	NM_001999.4	NP_001990.2:p.(Cys2575Arg)	NC_000005.9:g.127609649A>G	VUS	1 lab	073629aa87
2:44080324 ABCG8 A>G	2	44080324	44080324	A	G	ABCG8	c.964+317A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44080324A>G	(Likely) benign	1 lab	0737fb0d5e
9:79954410 VPS13A GTT>G	9	79954410	79954424	GTT	G	VPS13A	c.6379-9_6379-8del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79954423_79954424del	(Likely) benign	1 lab	0739557ee4
4:155083505 MISSING Ref too long to show for this DEL>T	4	155083505	155159162	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.155083506_155159162del	VUS	1 lab	073b2f48f6
11:119211037 C1QTNF5 A>G	11	119211037	119211037	A	G	C1QTNF5	c.71T>C	NM_015645.5	NP_056460.1:p.(Ile24Thr)	NC_000011.9:g.119211037A>G	VUS	1 lab	073eec4249
16:921162 LMF1 G>A	16	921162	921162	G	A	LMF1	c.678C>T	NM_001352018.2	NP_001338947.1:p.(Phe226=)	NC_000016.9:g.921162G>A	VUS	1 lab	0741e87b86
2:179413294 TTN G>C	2	179413294	179413294	G	C	TTN	c.93059C>G	NM_001267550.2	NP_001254479.2:p.(Pro31020Arg)	NC_000002.11:g.179413294G>C	VUS	1 lab	07434b716a
2:69586370 GFPT1 A>G	2	69586370	69586370	A	G	GFPT1	c.408+30T>C	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69586370A>G	(Likely) benign	1 lab	07484f107c
9:134073617 NUP214 C>A	9	134073617	134073617	C	A	NUP214	c.4736C>A	NM_005085.4	NP_005076.3:p.(Thr1579Lys)	NC_000009.11:g.134073617C>A	VUS	1 lab	074d261962
1:25888933 LDLRAP1 TG>T	1	25888933	25888934	TG	T	LDLRAP1	c.460-201del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25888934del	(Likely) benign	1 lab	0751814c78
8:133894730 TG G>A	8	133894730	133894730	G	A	TG	c.762G>A	NM_003235.5	NP_003226.4:p.(Leu254=)	NC_000008.10:g.133894730G>A	(Likely) benign	1 lab	0751a3d882
3:14171079 TMEM43 T>C	3	14171079	14171079	T	C	TMEM43	c.162+18T>C	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14171079T>C	(Likely) benign	1 lab	075a1c9a4c
12:52307359 ACVRL1 G>A	12	52307359	52307359	G	A	ACVRL1	c.330G>A	NM_000020.3	NP_000011.2:p.(Ser110=)	NC_000012.11:g.52307359G>A	(Likely) benign	1 lab	075bf65ba5
8:92355599 SLC26A7 C>T	8	92355599	92355599	C	T	SLC26A7	c.1045C>T	NM_001282356.2	NP_001269285.1:p.(Leu349Phe)	NC_000008.10:g.92355599C>T	(Likely) benign	1 lab	075ce2ce90
12:5154368 KCNA5 T>A	12	5154368	5154368	T	A	KCNA5	c.1055T>A	NM_002234.4	NP_002225.2:p.(Phe352Tyr)	NC_000012.11:g.5154368T>A	VUS	1 lab	075d9e8080
X:53263623 IQSEC2 G>C	X	53263623	53263623	G	C	IQSEC2	c.4245C>G	NM_001111125.3	NP_001104595.1:p.(Tyr1415Ter)	NC_000023.10:g.53263623G>C	(Likely) pathogenic	1 lab	075dfcbb8e
11:116706909 APOA1 C>A	11	116706909	116706909	C	A	APOA1	c.419G>T	NM_000039.3	NP_000030.1:p.(Arg140Leu)	NC_000011.9:g.116706909C>A	VUS	1 lab	075e450764
14:45402387 MISSING Ref too long to show for this DEL>G	14	45402387	45497906	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.45402388_45497906del	VUS	1 lab	0764e2c6c5
3:195512206 MUC4 A>G	3	195512206	195512206	A	G	MUC4	c.6245T>C	NM_018406.7	NP_060876.5:p.(Leu2082Pro)	NC_000003.11:g.195512206A>G	(Likely) benign	1 lab	07669750cb
14:102452355 DYNC1H1 G>T	14	102452355	102452355	G	T	DYNC1H1	c.1793G>T	NM_001376.5	NP_001367.2:p.(Arg598Leu)	NC_000014.8:g.102452355G>T	(Likely) pathogenic	1 lab	07723adafe
12:88474190 CEP290 ATG>A	12	88474190	88474203	ATG	A	CEP290	c.5013-20_5013-19del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88474202_88474203del	(Likely) benign	1 lab	077295bd64
2:179659210 TTN C>A	2	179659210	179659210	C	A	TTN	c.1314G>T	NM_001267550.2	NP_001254479.2:p.(Val438=)	NC_000002.11:g.179659210C>A	(Likely) benign	1 lab	07743b7659
1:55517861 PCSK9 C>G	1	55517861	55517861	C	G	PCSK9	c.524-90C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55517861C>G	(Likely) benign	1 lab	07752a7c97
X:119387940 ZBTB33 G>A	X	119387940	119387940	G	A	ZBTB33	c.670G>A	NM_001184742.2	NP_001171671.1:p.(Val224Ile)	NC_000023.10:g.119387940G>A	(Likely) benign	1 lab	07760df401
1:94526198 ABCA4 G>A	1	94526198	94526198	G	A	ABCA4	c.2055C>T	NM_000350.3	NP_000341.2:p.(Thr685=)	NC_000001.10:g.94526198G>A	(Likely) benign	1 lab	07766cc8e7
17:17117132 FLCN C>T	17	17117132	17117132	C	T	FLCN	c.1577G>A	NM_144997.7	NP_659434.2:p.(Ser526Asn)	NC_000017.10:g.17117132C>T	(Likely) benign	1 lab	07782be2c9
10:88485952 LDB3 C>A	10	88485952	88485952	C	A	LDB3	c.2052C>A	NM_001171610.2	NP_001165081.1:p.(Gly684=)	NC_000010.10:g.88485952C>A	(Likely) benign	1 lab	07a586099a
2:110927446 NPHP1 G>A	2	110927446	110927446	G	A	NPHP1	c.459C>T	NM_000272.5	NP_000263.2:p.(Thr153=)	NC_000002.11:g.110927446G>A	(Likely) benign	1 lab	077f1bd38f
12:119631607 HSPB8 G>C	12	119631607	119631607	G	C	HSPB8	c.535G>C	NM_014365.3	NP_055180.1:p.(Glu179Gln)	NC_000012.11:g.119631607G>C	(Likely) benign	1 lab	078573bf02
9:107593502 ABCA1 CT>C	9	107593502	107593515	CT	C	ABCA1	c.1716-121del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593515del	(Likely) benign	1 lab	07857a0a0e
7:116422030 MET C>G	7	116422030	116422030	C	G	MET	c.3577-12C>G	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116422030C>G	(Likely) benign	1 lab	078848a438
9:107560713 ABCA1 C>T	9	107560713	107560713	C	T	ABCA1	c.5110G>A	NM_005502.4	NP_005493.2:p.(Val1704Ile)	NC_000009.11:g.107560713C>T	VUS	1 lab	0789a56b4b
2:21229229 APOB A>G	2	21229229	21229229	A	G	APOB	c.10511T>C	NM_000384.3	NP_000375.3:p.(Val3504Ala)	NC_000002.11:g.21229229A>G	VUS	1 lab	078abc5207
11:47373159 MYBPC3 C>T	11	47373159	47373159	C	T	MYBPC3	c.26-103G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373159C>T	(Likely) benign	1 lab	078b21fea8
7:94050123 COL1A2 G>A	7	94050123	94050123	G	A	COL1A2	c.2295+163G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94050123G>A	(Likely) benign	1 lab	078dbbcb32
15:85360733 ALPK3 CG>C	15	85360733	85360738	CG	C	ALPK3	c.55del	NM_020778.5	NP_065829.4:p.(Ala19ArgfsTer90)	NC_000015.9:g.85360738del	(Likely) pathogenic	1 lab	079087ecde
9:32986030 APTX T>TAAAAAAAAACAA	9	32986030	32986040	T	TAAAAAAAAACAA	APTX	c.484-3_484-2insTTGTTTTTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAAAAAAAA	(Likely) benign	1 lab	0792f7ed74
19:55667956 TNNI3 C>T	19	55667956	55667956	C	T	TNNI3	c.150+15G>A	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667956C>T	(Likely) benign	1 lab	07947e5caf
7:72606408 MISSING Ref too long to show for this DEL>T	7	72606408	74193404	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72606410_74193404del	(Likely) pathogenic	1 lab	079b6b5cab
12:124412971 DNAH10 G>A	12	124412971	124412971	G	A	DNAH10	c.11789G>A	NM_207437.3	NP_997320.2:p.(Gly3930Glu)	NC_000012.11:g.124412971G>A	VUS	1 lab	07a0b52cb1
11:116661456 APOA5 C>A	11	116661456	116661456	C	A	APOA5	c.489G>T	NM_052968.5	NP_443200.2:p.(Leu163=)	NC_000011.9:g.116661456C>A	(Likely) benign	1 lab	07a5bd518e
1:239360069 MISSING C>Alt too long to show for this DUP	1	239360069	239564706	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.239360071_239564706dup	VUS	1 lab	07a61e1d3b
6:112462048 LAMA4 CCT>C	6	112462048	112462050	CCT	C	LAMA4	c.2888_2889del	NM_001105206.3	NP_001098676.2:p.(Lys963ArgfsTer7)	NC_000006.11:g.112462049_112462050del	VUS	1 lab	07aaa0b0d5
17:10535223 MYH3 C>A	17	10535223	10535223	C	A	MYH3	c.5067G>T	NM_002470.4	NP_002461.2:p.(Leu1689=)	NC_000017.10:g.10535223C>A	(Likely) benign	1 lab	07afedf469
19:52715983 PPP2R1A G>A	19	52715983	52715983	G	A	PPP2R1A	c.11G>A	NM_001363656.2	NP_001350585.1:p.(Arg4Gln)	NC_000019.9:g.52715983G>A	(Likely) pathogenic	1 lab	07b43e5e67
X:152935987 PNCK G>A	X	152935987	152935987	G	A	PNCK	c.1206C>T	NM_001039582.3	NP_001034671.3:p.(Gly402=)	NC_000023.10:g.152935987G>A	(Likely) benign	1 lab	07b523c541
1:33282775 YARS1 C>A	1	33282775	33282775	C	A	YARS1	c.57+14G>T	NM_003680.4	NP_003671.1:p.?	NC_000001.10:g.33282775C>A	(Likely) benign	1 lab	07b596c3c8
8:140630801 KCNK9 G>A	8	140630801	140630801	G	A	KCNK9	c.825C>T	NM_001282534.2	NP_001269463.1:p.(Ile275=)	NC_000008.10:g.140630801G>A	(Likely) benign	1 lab	07b70a70c7
2:179458323 TTN A>G	2	179458323	179458323	A	G	TTN	c.58704T>C	NM_001267550.2	NP_001254479.2:p.(Ser19568=)	NC_000002.11:g.179458323A>G	(Likely) benign	1 lab	07b79930e0
6:16146949 MYLIP G>C	6	16146949	16146949	G	C	MYLIP	c.1305G>C	NM_013262.4	NP_037394.2:p.(Thr435=)	NC_000006.11:g.16146949G>C	(Likely) benign	1 lab	07ba94db11
2:44041641 ABCG5 C>G	2	44041641	44041641	C	G	ABCG5	c.1737G>C	NM_022436.3	NP_071881.1:p.(Glu579Asp)	NC_000002.11:g.44041641C>G	VUS	1 lab	07bb78ce80
15:31294457 TRPM1 T>G	15	31294457	31294457	T	G	TRPM1	c.4497A>C	NM_001252020.2	NP_001238949.1:p.(Ser1499=)	NC_000015.9:g.31294457T>G	(Likely) benign	1 lab	07bf354c6c
12:125271996 SCARB1 C>T	12	125271996	125271996	C	T	SCARB1	c.1210G>A	NM_005505.5	NP_005496.4:p.(Gly404Arg)	NC_000012.11:g.125271996C>T	VUS	1 lab	07bf9abde9
9:107624057 ABCA1 A>C	9	107624057	107624057	A	C	ABCA1	c.446T>G	NM_005502.4	NP_005493.2:p.(Val149Gly)	NC_000009.11:g.107624057A>C	(Likely) benign	1 lab	07c0f544e0
12:125299542 SCARB1 C>T	12	125299542	125299542	C	T	SCARB1	c.403G>A	NM_005505.5	NP_005496.4:p.(Val135Ile)	NC_000012.11:g.125299542C>T	(Likely) benign	1 lab	07c9f08ac8
3:38593128 SCN5A T>TGGGA	3	38593128	38593132	T	TGGGA	SCN5A	c.4811-80_4811-79insTCCC	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38593131_38593132insAGGG	(Likely) benign	1 lab	07ca4db2ed
22:50665224 TUBGCP6 G>A	22	50665224	50665224	G	A	TUBGCP6	c.1539C>T	NM_020461.4	NP_065194.3:p.(Cys513=)	NC_000022.10:g.50665224G>A	(Likely) benign	1 lab	07cb4da3ab
1:150297335 PRPF3 T>C	1	150297335	150297335	T	C	PRPF3	c.-48-18T>C	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297335T>C	(Likely) benign	1 lab	07ce399872
1:2237999 SKI A>G	1	2237999	2237999	A	G	SKI	c.1999-17A>G	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2237999A>G	(Likely) benign	1 lab	07cec27bcb
7:81598291 CACNA2D1 TA>T	7	81598291	81598301	TA	T	CACNA2D1	c.2309-3del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81598301del	(Likely) benign	1 lab	07d00c744c
9:113196733 SVEP1 A>C	9	113196733	113196733	A	C	SVEP1	c.4942T>G	NM_153366.4	NP_699197.3:p.(Leu1648Val)	NC_000009.11:g.113196733A>C	(Likely) benign	1 lab	07d2856071
5:127654711 FBN2 A>T	5	127654711	127654711	A	T	FBN2	c.4472-18T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654711A>T	(Likely) benign	1 lab	07d3418b2d
10:112572068 RBM20 C>T	10	112572068	112572068	C	T	RBM20	c.1913C>T	NM_001134363.3	NP_001127835.2:p.(Pro638Leu)	NC_000010.10:g.112572068C>T	(Likely) pathogenic	1 lab	07d437b0dd
2:54870254 SPTBN1 C>A	2	54870254	54870254	C	A	SPTBN1	c.3993C>A	NM_003128.3	NP_003119.2:p.(Asp1331Glu)	NC_000002.11:g.54870254C>A	(Likely) benign	1 lab	07d51429c0
6:119245082 MCM9 C>A	6	119245082	119245082	C	A	MCM9	c.515G>T	NM_017696.3	NP_060166.2:p.(Cys172Phe)	NC_000006.11:g.119245082C>A	VUS	1 lab	07d5e590e0
18:29111155 DSG2 G>T	18	29111155	29111155	G	T	DSG2	c.1220G>T	NM_001943.5	NP_001934.2:p.(Gly407Val)	NC_000018.9:g.29111155G>T	VUS	1 lab	07d5fc40fc
11:47359810 MYBPC3 C>T	11	47359810	47359810	C	T	MYBPC3	c.2308+261G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359810C>T	(Likely) benign	1 lab	07d697def1
11:116706764 APOA1 G>C	11	116706764	116706764	G	C	APOA1	c.237C>G	NM_001318021.1	NP_001304950.1:p.(Ala79=)	NC_000011.9:g.116706764G>C	(Likely) benign	1 lab	07dfc20e51
14:21793998 RPGRIP1 G>A	14	21793998	21793998	G	A	RPGRIP1	c.2376G>A	NM_020366.4	NP_065099.3:p.(Ser792=)	NC_000014.8:g.21793998G>A	(Likely) benign	1 lab	07dff8a4f5
4:140006386 MISSING T>Alt too long to show for this DUP	4	140006386	140228994	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.140006387_140228994dup	VUS	1 lab	07e0c5b488
15:35083508 ACTC1 T>TCACACACACACACA	15	35083508	35083554	T	TCACACACACACACA	ACTC1	c.809-26_809-13dup	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083541_35083554dup	(Likely) benign	1 lab	07e39cba7a
6:75861489 COL12A1 T>C	6	75861489	75861489	T	C	COL12A1	c.4000+94A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75861489T>C	(Likely) benign	1 lab	07e85f7ca6
13:32944663 BRCA2 A>G	13	32944663	32944663	A	G	BRCA2	c.8456A>G	NM_000059.4	NP_000050.3:p.(Asp2819Gly)	NC_000013.10:g.32944663A>G	VUS	1 lab	07e946f418
17:56438301 RNF43 G>A	17	56438301	56438301	G	A	RNF43	c.692C>T	NM_017763.6	NP_060233.3:p.(Pro231Leu)	NC_000017.10:g.56438301G>A	(Likely) benign	1 lab	07ed32d6b3
X:87456807 MISSING Ref too long to show for this DEL>G	X	87456807	88540831	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.87456808_88540831del	VUS	1 lab	07edd64469
15:72040687 THSD4 G>A	15	72040687	72040687	G	A	THSD4	c.2242-73G>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72040687G>A	(Likely) benign	1 lab	07ee68f9f6
1:237551434 RYR2 G>C	1	237551434	237551434	G	C	RYR2	c.724G>C	NM_001035.3	NP_001026.2:p.(Asp242His)	NC_000001.10:g.237551434G>C	(Likely) pathogenic	1 lab	07f43ab9e9
19:50339548 MED25 G>A	19	50339548	50339548	G	A	MED25	c.2031G>A	NM_030973.4	NP_112235.2:p.(Ala677=)	NC_000019.9:g.50339548G>A	(Likely) benign	1 lab	07f5074cf1
2:21227299 APOB T>G	2	21227299	21227299	T	G	APOB	c.11929A>C	NM_000384.3	NP_000375.3:p.(Asn3977His)	NC_000002.11:g.21227299T>G	VUS	1 lab	07f67fefa6
17:7910445 GUCY2D C>A	17	7910445	7910445	C	A	GUCY2D	c.1446C>A	NM_000180.4	NP_000171.1:p.(Phe482Leu)	NC_000017.10:g.7910445C>A	VUS	1 lab	07f7c240f2
1:214585007 PTPN14 A>G	1	214585007	214585007	A	G	PTPN14	c.510+20T>C	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214585007A>G	(Likely) benign	1 lab	07f9c3ae1e
12:32949250 PKP2 AAAC>A	12	32949250	32949255	AAAC	A	PKP2	c.2300-21_2300-19del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949253_32949255del	(Likely) benign	1 lab	07fc42c86e
6:36452603 KCTD20 T>TA	6	36452603	36452619	T	TA	KCTD20	c.967+18dup	NM_173562.5	NP_775833.2:p.?	NC_000006.11:g.36452619dup	(Likely) benign	1 lab	07fec1f5f3
1:78383675 NEXN G>A	1	78383675	78383675	G	A	NEXN	c.250G>A	NM_144573.4	NP_653174.3:p.(Glu84Lys)	NC_000001.10:g.78383675G>A	VUS	1 lab	20fd44b4e9
2:56098277 EFEMP1 A>G	2	56098277	56098277	A	G	EFEMP1	c.1001-19T>C	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56098277A>G	(Likely) benign	1 lab	0801865611
3:38655399 SCN5A G>T	3	38655399	38655399	G	T	SCN5A	c.612-74C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38655399G>T	(Likely) benign	1 lab	08028e2f10
14:23873904 MYH6 G>A	14	23873904	23873904	G	A	MYH6	c.642+16C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873904G>A	(Likely) benign	1 lab	0803ceb822
15:44887440 SPG11 G>A	15	44887440	44887440	G	A	SPG11	c.4635+17C>T	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44887440G>A	(Likely) benign	1 lab	0805db5ab1
22:25425181 KIAA1671 C>G	22	25425181	25425181	C	G	KIAA1671	c.1215C>G	NM_001145206.2	NP_001138678.1:p.(Pro405=)	NC_000022.10:g.25425181C>G	(Likely) benign	1 lab	080686b11e
9:130586688 ENG G>A	9	130586688	130586688	G	A	ENG	c.1029C>T	NM_000118.3	NP_000109.1:p.(Thr343=)	NC_000009.11:g.130586688G>A	(Likely) benign	1 lab	0809ab141d
5:59284494 PDE4D G>A	5	59284494	59284494	G	A	PDE4D	c.93C>T	NM_001165899.2	NP_001159371.1:p.(Arg31=)	NC_000005.9:g.59284494G>A	(Likely) benign	1 lab	080c2b2846
12:59272586 LRIG3 A>C	12	59272586	59272586	A	C	LRIG3	c.2083+20T>G	NM_153377.5	NP_700356.2:p.?	NC_000012.11:g.59272586A>C	(Likely) benign	1 lab	080d77d6c9
2:189873883 COL3A1 T>G	2	189873883	189873883	T	G	COL3A1	c.3759T>G	NM_000090.4	NP_000081.2:p.(Gly1253=)	NC_000002.11:g.189873883T>G	(Likely) benign	1 lab	080f407959
5:148389834 SH3TC2 C>G	5	148389834	148389834	C	G	SH3TC2	c.3326G>C	NM_024577.4	NP_078853.2:p.(Arg1109Pro)	NC_000005.9:g.148389834C>G	(Likely) pathogenic	1 lab	0812342723
2:220284969 DES C>G	2	220284969	220284969	C	G	DES	c.640-4C>G	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220284969C>G	(Likely) benign	1 lab	081512f7e6
2:179516455 TTN G>C	2	179516455	179516455	G	C	TTN	c.39401C>G	NM_001267550.2	NP_001254479.2:p.(Pro13134Arg)	NC_000002.11:g.179516455G>C	VUS	1 lab	0817248471
5:178553151 ADAMTS2 C>T	5	178553151	178553151	C	T	ADAMTS2	c.2618-20G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178553151C>T	(Likely) benign	1 lab	081aeb7848
2:1618580 MISSING G>Alt too long to show for this DUP	2	1618580	1832674	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.1618581_1832674dup	VUS	1 lab	081c1f1251
6:100841614 SIM1 G>A	6	100841614	100841614	G	A	SIM1	c.1319C>T	NM_005068.3	NP_005059.2:p.(Ser440Leu)	NC_000006.11:g.100841614G>A	VUS	1 lab	081cc37fd6
14:23874969 MYH6 A>G	14	23874969	23874969	A	G	MYH6	c.212T>C	NM_002471.4	NP_002462.2:p.(Val71Ala)	NC_000014.8:g.23874969A>G	VUS	1 lab	081ce261f2
2:179634787 TTN T>C	2	179634787	179634787	T	C	TTN	c.8641A>G	NM_001267550.2	NP_001254479.2:p.(Thr2881Ala)	NC_000002.11:g.179634787T>C	VUS	1 lab	081e696f51
1:218520346 TGFB2 G>A	1	218520346	218520346	G	A	TGFB2	c.303G>A	NM_001135599.4	NP_001129071.1:p.(Lys101=)	NC_000001.10:g.218520346G>A	(Likely) benign	1 lab	081ef6d1da
21:47409035 COL6A1 G>A	21	47409035	47409035	G	A	COL6A1	c.842G>A	NM_001848.3	NP_001839.2:p.(Gly281Glu)	NC_000021.8:g.47409035G>A	(Likely) pathogenic	1 lab	0821676b99
1:25880514 LDLRAP1 G>A	1	25880514	25880514	G	A	LDLRAP1	c.190G>A	NM_015627.3	NP_056442.2:p.(Glu64Lys)	NC_000001.10:g.25880514G>A	VUS	1 lab	082249d45c
2:44059225 ABCG5 G>T	2	44059225	44059225	G	T	ABCG5	c.266-3C>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059225G>T	(Likely) pathogenic	1 lab	083d26f5cf
19:35524653 SCN1B G>A	19	35524653	35524653	G	A	SCN1B	c.458G>A	NM_199037.5	NP_950238.1:p.(Gly153Asp)	NC_000019.9:g.35524653G>A	(Likely) benign	1 lab	082a619992
3:38646393 SCN5A T>C	3	38646393	38646393	T	C	SCN5A	c.1345A>G	NM_198056.3	NP_932173.1:p.(Thr449Ala)	NC_000003.11:g.38646393T>C	VUS	1 lab	082b02b54f
4:1803398 FGFR3 C>T	4	1803398	1803398	C	T	FGFR3	c.667C>T	NM_000142.5	NP_000133.1:p.(Arg223Cys)	NC_000004.11:g.1803398C>T	(Likely) pathogenic	1 lab	082b495535
5:24569408 CDH10 Ref too long to show for this DEL>A	5	24569408	24618713	Ref too long to show for this DEL	A	CDH10	c.-123-24989_231+23960del	NM_006727.5	NP_006718.2:p.?	NC_000005.9:g.24569411_24618713del	VUS	1 lab	08325cc96e
16:28486421 MISSING Ref too long to show for this DEL>A	16	28486421	30199507	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.28486422_30199507del	(Likely) pathogenic	1 lab	08356be5da
2:179407592 TTN A>G	2	179407592	179407592	A	G	TTN	c.96989T>C	NM_001267550.2	NP_001254479.2:p.(Ile32330Thr)	NC_000002.11:g.179407592A>G	VUS	1 lab	083909d922
9:137653754 COL5A1 A>T	9	137653754	137653754	A	T	COL5A1	c.1936-17A>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137653754A>T	(Likely) benign	1 lab	083abd09e1
20:18005591 OVOL2 G>A	20	18005591	18005591	G	A	OVOL2	c.517C>T	NM_021220.4	NP_067043.2:p.(Arg173Cys)	NC_000020.10:g.18005591G>A	VUS	1 lab	083ae21854
14:23857050 MYH6 G>A	14	23857050	23857050	G	A	MYH6	c.4442C>T	NM_002471.4	NP_002462.2:p.(Thr1481Ile)	NC_000014.8:g.23857050G>A	VUS	1 lab	083ce05d84
9:107547934 ABCA1 A>T	9	107547934	107547934	A	T	ABCA1	c.6402-14T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547934A>T	(Likely) benign	1 lab	083f85d1f7
7:117282570 CFTR G>A	7	117282570	117282570	G	A	CFTR	c.3796G>A	NM_000492.4	NP_000483.3:p.(Glu1266Lys)	NC_000007.13:g.117282570G>A	(Likely) benign	1 lab	0849632aaf
12:40541033 MISSING Ref too long to show for this DEL>C	12	40541033	41238515	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.40541034_41238515del	VUS	1 lab	084a1465cc
19:11226886 LDLR T>C	19	11226886	11226886	T	C	LDLR	c.1703T>C	NM_000527.5	NP_000518.1:p.(Leu568Pro)	NC_000019.9:g.11226886T>C	(Likely) pathogenic	1 lab	084c43bf9a
9:140100117 MISSING G>Alt too long to show for this DUP	9	140100117	140357549	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140100118_140357549dup	VUS	1 lab	084c546ade
5:52397311 MOCS2 T>C	5	52397311	52397311	T	C	MOCS2	c.255A>G	NM_004531.5	NP_004522.1:p.(Lys85=)	NC_000005.9:g.52397311T>C	(Likely) benign	1 lab	084e85cc0e
22:41923891 ACO2 C>T	22	41923891	41923891	C	T	ACO2	c.2087-14C>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41923891C>T	(Likely) benign	1 lab	0850dad9ae
X:134969239 MISSING Ref too long to show for this DEL>G	X	134969239	135028433	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.134969240_135028433del	VUS	1 lab	08525601a7
13:46039177 COG3 GGAGGCGGCGCTGTTGCTGCTGCCT>G	13	46039177	46039210	GGAGGCGGCGCTGTTGCTGCTGCCT	G	COG3	c.16_39del	NM_031431.4	NP_113619.3:p.(Leu6_Ala13del)	NC_000013.10:g.46039187_46039210del	VUS	1 lab	085257d209
11:68115412 LRP5 G>A	11	68115412	68115412	G	A	LRP5	c.189G>A	NM_002335.4	NP_002326.2:p.(Glu63=)	NC_000011.9:g.68115412G>A	(Likely) benign	1 lab	0853b1383e
14:23897102 MYH7 G>A	14	23897102	23897102	G	A	MYH7	c.1580C>T	NM_000257.4	NP_000248.2:p.(Pro527Leu)	NC_000014.8:g.23897102G>A	VUS	1 lab	0858a5c3a7
1:235596244 TBCE T>TA	1	235596244	235596256	T	TA	TBCE	c.661-5dup	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235596256dup	(Likely) benign	1 lab	08596fce62
2:21226091 APOB G>A	2	21226091	21226091	G	A	APOB	c.12203C>T	NM_000384.3	NP_000375.3:p.(Thr4068Ile)	NC_000002.11:g.21226091G>A	(Likely) benign	1 lab	085aaef7a8
14:23876363 MYH6 G>T	14	23876363	23876363	G	T	MYH6	c.70C>A	NM_002471.4	NP_002462.2:p.(Leu24Ile)	NC_000014.8:g.23876363G>T	(Likely) benign	1 lab	085afe6677
17:6428701 PITPNM3 G>A	17	6428701	6428701	G	A	PITPNM3	c.201C>T	NM_031220.4	NP_112497.2:p.(Thr67=)	NC_000017.10:g.6428701G>A	(Likely) benign	1 lab	085b54e745
X:17070554 REPS2 ACT>A	X	17070554	17070559	ACT	A	REPS2	c.961_962del	NM_004726.3	NP_004717.2:p.(Ser321LeufsTer6)	NC_000023.10:g.17070558_17070559del	VUS	1 lab	085bc04cc4
X:18622692 CDKL5 C>T	X	18622692	18622692	C	T	CDKL5	c.1648C>T	NM_001323289.2	NP_001310218.1:p.(Arg550Ter)	NC_000023.10:g.18622692C>T	(Likely) pathogenic	1 lab	085f189912
9:137714663 COL5A1 G>C	9	137714663	137714663	G	C	COL5A1	c.4609-181G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137714663G>C	(Likely) benign	1 lab	0860acc7dc
1:64059378 PGM1 C>T	1	64059378	64059378	C	T	PGM1	c.219C>T	NM_002633.3	NP_002624.2:p.(Leu73=)	NC_000001.10:g.64059378C>T	(Likely) benign	1 lab	08615b8397
2:179400584 TTN A>AG	2	179400584	179400585	A	AG	TTN	c.100766-9dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400585dup	(Likely) benign	1 lab	0869558d50
8:37602178 ERLIN2 G>T	8	37602178	37602178	G	T	ERLIN2	c.388G>T	NM_007175.8	NP_009106.1:p.(Val130Leu)	NC_000008.10:g.37602178G>T	VUS	1 lab	086b338d7c
12:125299594 SCARB1 G>A	12	125299594	125299594	G	A	SCARB1	c.351C>T	NM_001367981.1	NP_001354910.1:p.(Arg117=)	NC_000012.11:g.125299594G>A	(Likely) benign	1 lab	086de11b0b
9:107564014 ABCA1 G>A	9	107564014	107564014	G	A	ABCA1	c.4698+321C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564014G>A	(Likely) benign	1 lab	086f33365f
2:21228156 APOB T>C	2	21228156	21228156	T	C	APOB	c.11584A>G	NM_000384.3	NP_000375.3:p.(Ile3862Val)	NC_000002.11:g.21228156T>C	(Likely) benign	1 lab	08722b25a4
1:236900597 ACTN2 G>GTATATATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATATATA	(Likely) benign	1 lab	08722ebd8c
11:10013967 SBF2 C>T	11	10013967	10013967	C	T	SBF2	c.1291G>A	NM_030962.4	NP_112224.1:p.(Asp431Asn)	NC_000011.9:g.10013967C>T	VUS	1 lab	0874701ceb
1:201332453 TNNT2 T>C	1	201332453	201332453	T	C	TNNT2	c.541A>G	NM_001276347.2	NP_001263276.1:p.(Met181Val)	NC_000001.10:g.201332453T>C	VUS	1 lab	087605eac5
7:92151530 PEX1 G>A	7	92151530	92151530	G	A	PEX1	c.159C>T	NM_000466.3	NP_000457.1:p.(His53=)	NC_000007.13:g.92151530G>A	(Likely) benign	1 lab	08770c8397
3:53783314 CACNA1D G>A	3	53783314	53783314	G	A	CACNA1D	c.3394G>A	NM_000720.4	NP_000711.1:p.(Asp1132Asn)	NC_000003.11:g.53783314G>A	VUS	1 lab	0877874330
6:16146865 MYLIP A>T	6	16146865	16146865	A	T	MYLIP	c.1249-28A>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16146865A>T	(Likely) benign	1 lab	0879378c09
6:64498112 EYS C>T	6	64498112	64498112	C	T	EYS	c.7609G>A	NM_001292009.2	NP_001278938.1:p.(Ala2537Thr)	NC_000006.11:g.64498112C>T	VUS	1 lab	08955b107d
11:47371751 MYBPC3 T>A	11	47371751	47371751	T	A	MYBPC3	c.407-88A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371751T>A	(Likely) benign	1 lab	087d64e01b
15:82488665 MISSING A>Alt too long to show for this DUP	15	82488665	82622366	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.82488667_82622366dup	VUS	1 lab	0880f47218
1:150297338 PRPF3 T>C	1	150297338	150297338	T	C	PRPF3	c.-48-15T>C	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297338T>C	(Likely) benign	1 lab	08816dd3be
1:12069708 MFN2 T>C	1	12069708	12069708	T	C	MFN2	c.2129T>C	NM_014874.4	NP_055689.1:p.(Leu710Pro)	NC_000001.10:g.12069708T>C	(Likely) pathogenic	1 lab	0884495331
18:7016690 LAMA1 G>A	18	7016690	7016690	G	A	LAMA1	c.2809-20C>T	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7016690G>A	(Likely) benign	1 lab	08852ec225
6:56569107 DST G>C	6	56569107	56569107	G	C	DST	c.748C>G	NM_001144769.5	NP_001138241.1:p.(Leu250Val)	NC_000006.11:g.56569107G>C	VUS	1 lab	0887494c7a
15:85371060 ALPK3 C>T	15	85371060	85371060	C	T	ALPK3	c.304+224C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85371060C>T	(Likely) benign	1 lab	0887ae750f
5:131007710 FNIP1 A>G	5	131007710	131007710	A	G	FNIP1	c.2427T>C	NM_133372.3	NP_588613.3:p.(Asp809=)	NC_000005.9:g.131007710A>G	(Likely) benign	1 lab	0887b8daa2
2:44053567 ABCG5 C>T	2	44053567	44053567	C	T	ABCG5	c.728G>A	NM_022436.3	NP_071881.1:p.(Arg243Gln)	NC_000002.11:g.44053567C>T	VUS	1 lab	088b31e9de
12:27337098 MISSING C>Alt too long to show for this DUP	12	27337098	28234930	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.27337100_28234930dup	(Likely) pathogenic	1 lab	08937ee44a
19:1496574 REEP6 C>T	19	1496574	1496574	C	T	REEP6	c.517+122C>T	NM_138393.4	NP_612402.1:p.?	NC_000019.9:g.1496574C>T	(Likely) benign	1 lab	089381985c
1:55521780 PCSK9 C>T	1	55521780	55521780	C	T	PCSK9	c.914C>T	NM_174936.4	NP_777596.2:p.(Ala305Val)	NC_000001.10:g.55521780C>T	(Likely) benign	1 lab	089a1a08b6
12:103351316 PAH G>Alt too long to show for this DUP	12	103351316	103353297	G	Alt too long to show for this DUP	PAH				NC_000012.11:g.103351317_103353297dup	VUS	1 lab	08a0f4fcfe
2:61710226 XPO1 C>T	2	61710226	61710226	C	T	XPO1	c.2678G>A	NM_003400.4	NP_003391.1:p.(Gly893Asp)	NC_000002.11:g.61710226C>T	VUS	1 lab	08a16f43f8
3:58091058 FLNB G>C	3	58091058	58091058	G	C	FLNB	c.1747+115G>C	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58091058G>C	(Likely) benign	1 lab	08a39ce27b
9:137657634 COL5A1 C>T	9	137657634	137657634	C	T	COL5A1	c.2088+54C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137657634C>T	(Likely) benign	1 lab	08a55e0960
7:128484183 FLNC G>T	7	128484183	128484183	G	T	FLNC	c.3055G>T	NM_001458.5	NP_001449.3:p.(Gly1019Cys)	NC_000007.13:g.128484183G>T	VUS	1 lab	08a6d280f5
16:89999011 TUBB3 C>T	16	89999011	89999011	C	T	TUBB3	c.90C>T	NM_006086.4	NP_006077.2:p.(Ile30=)	NC_000016.9:g.89999011C>T	(Likely) benign	1 lab	08a7354d67
X:154508622 CLIC2 G>T	X	154508622	154508622	G	T	CLIC2	c.401-3C>A	NM_001289.6	NP_001280.3:p.?	NC_000023.10:g.154508622G>T	VUS	1 lab	08a7ed896e
9:4118393 GLIS3 G>T	9	4118393	4118393	G	T	GLIS3	c.1085C>A	NM_001042413.2	NP_001035878.1:p.(Pro362Gln)	NC_000009.11:g.4118393G>T	(Likely) benign	1 lab	08a87d1290
4:1976659 NSD2 T>C	4	1976659	1976659	T	C	NSD2	c.3442T>C	NM_133330.3	NP_579877.1:p.(Cys1148Arg)	NC_000004.11:g.1976659T>C	VUS	1 lab	08aaaae28b
1:216420103 USH2A C>T	1	216420103	216420103	C	T	USH2A	c.2633G>A	NM_206933.4	NP_996816.3:p.(Arg878His)	NC_000001.10:g.216420103C>T	(Likely) benign	1 lab	08aae7b5cd
2:74596531 DCTN1 C>T	2	74596531	74596531	C	T	DCTN1	c.1480G>A	NM_004082.5	NP_004073.2:p.(Ala494Thr)	NC_000002.11:g.74596531C>T	VUS	1 lab	08afeabf37
6:169631796 THBS2 C>G	6	169631796	169631796	C	G	THBS2	c.2151+279G>C	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169631796C>G	(Likely) benign	1 lab	08b3de35eb
8:67804588 MISSING C>Alt too long to show for this DUP	8	67804588	67888719	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.67804589_67888719dup	VUS	1 lab	08b3f489fc
1:63067494 ANGPTL3 T>C	1	63067494	63067494	T	C	ANGPTL3	c.776T>C	NM_014495.4	NP_055310.1:p.(Met259Thr)	NC_000001.10:g.63067494T>C	(Likely) benign	1 lab	08b46f3134
19:15353755 BRD4 T>TG	19	15353755	15353756	T	TG	BRD4	c.3124dup	NM_001379291.1	NP_001366220.1:p.(His1042ProfsTer51)	NC_000019.9:g.15353756dup	(Likely) pathogenic	1 lab	08b81d34df
11:61724841 BEST1 C>G	11	61724841	61724841	C	G	BEST1	c.457-18C>G	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61724841C>G	(Likely) benign	1 lab	08b84ec40b
20:2841703 VPS16 A>G	20	2841703	2841703	A	G	VPS16	c.718A>G	NM_022575.4	NP_072097.2:p.(Thr240Ala)	NC_000020.10:g.2841703A>G	VUS	1 lab	08b8c05d1f
2:220290456 DES C>T	2	220290456	220290456	C	T	DES	c.1360C>T	NM_001927.4	NP_001918.3:p.(Arg454Trp)	NC_000002.11:g.220290456C>T	(Likely) pathogenic	1 lab	08baf2eb32
9:137727307 COL5A1 C>T	9	137727307	137727307	C	T	COL5A1	c.5370+257C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137727307C>T	(Likely) benign	1 lab	08bea52bff
12:122260583 SETD1B CTG>C	12	122260583	122260587	CTG	C	SETD1B	c.4101_4102del	NM_001353345.2	NP_001340274.1:p.(Cys1367TrpfsTer49)	NC_000012.11:g.122260586_122260587del	(Likely) pathogenic	1 lab	08c246c41a
15:85402164 ALPK3 C>T	15	85402164	85402164	C	T	ALPK3	c.3818-310C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402164C>T	(Likely) benign	1 lab	08c4f1f8b4
14:99640634 BCL11B C>T	14	99640634	99640634	C	T	BCL11B	c.2536G>A	NM_001282237.2	NP_001269166.1:p.(Gly846Arg)	NC_000014.8:g.99640634C>T	VUS	1 lab	08c9eff729
9:139326423 INPP5E G>A	9	139326423	139326423	G	A	INPP5E	c.1402C>T	NM_019892.6	NP_063945.2:p.(Arg468Cys)	NC_000009.11:g.139326423G>A	(Likely) benign	1 lab	08ca8c2559
X:152720458 MISSING G>Alt too long to show for this DUP	X	152720458	152911996	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152720461_152911996dup	(Likely) pathogenic	1 lab	08cc04f40d
7:138546216 KIAA1549 T>C	7	138546216	138546216	T	C	KIAA1549	c.4930-14A>G	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138546216T>C	(Likely) benign	1 lab	08cc7aa273
6:7568373 DSP GAGAACATTACTTCAC>G	6	7568373	7568389	GAGAACATTACTTCAC	G	DSP	c.1266+236_1266+250del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568375_7568389del	(Likely) benign	1 lab	08ce569672
14:102505752 DYNC1H1 C>T	14	102505752	102505752	C	T	DYNC1H1	c.11464C>T	NM_001376.5	NP_001367.2:p.(His3822Tyr)	NC_000014.8:g.102505752C>T	(Likely) benign	1 lab	08d08bc448
15:85400637 ALPK3 C>T	15	85400637	85400637	C	T	ALPK3	c.2668C>T	NM_020778.5	NP_065829.4:p.(Gln890Ter)	NC_000015.9:g.85400637C>T	(Likely) pathogenic	1 lab	08d60c4c04
9:126134463 CRB2 CCT>C	9	126134463	126134465	CCT	C	CRB2	c.2445_2446del	NM_173689.7	NP_775960.4:p.(Cys816PhefsTer12)	NC_000009.11:g.126134464_126134465del	(Likely) pathogenic	1 lab	08d6ff5595
17:39925842 JUP G>A	17	39925842	39925842	G	A	JUP	c.296C>T	NM_002230.4	NP_002221.1:p.(Ser99Leu)	NC_000017.10:g.39925842G>A	VUS	1 lab	08d933b353
2:44052128 ABCG5 G>A	2	44052128	44052128	G	A	ABCG5	c.804C>T	NM_022436.3	NP_071881.1:p.(Phe268=)	NC_000002.11:g.44052128G>A	(Likely) benign	1 lab	08d9b2355f
2:21231678 APOB C>T	2	21231678	21231678	C	T	APOB	c.8062G>A	NM_000384.3	NP_000375.3:p.(Val2688Ile)	NC_000002.11:g.21231678C>T	VUS	1 lab	08da8c94da
5:1201752 SLC6A19 G>A	5	1201752	1201752	G	A	SLC6A19	c.-14G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1201752G>A	(Likely) benign	1 lab	08dbd5ee81
15:58724275 LIPC G>A	15	58724275	58724275	G	A	LIPC	c.44G>A	NM_000236.3	NP_000227.2:p.(Cys15Tyr)	NC_000015.9:g.58724275G>A	VUS	1 lab	08dc99d2e7
16:88798095 PIEZO1 C>A	16	88798095	88798095	C	A	PIEZO1	c.3196+19G>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798095C>A	(Likely) benign	1 lab	08dcbc97a6
2:189866638 COL3A1 A>C	2	189866638	189866638	A	C	COL3A1	c.2391+323A>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866638A>C	(Likely) benign	1 lab	08dcc032e1
12:49691249 PRPH AAG>A	12	49691249	49691253	AAG	A	PRPH	c.1109_1110del	NM_006262.4	NP_006253.2:p.(Glu370GlyfsTer55)	NC_000012.11:g.49691252_49691253del	VUS	1 lab	08de9fb83c
9:107553244 ABCA1 A>G	9	107553244	107553244	A	G	ABCA1	c.5886T>C	NM_005502.4	NP_005493.2:p.(Asp1962=)	NC_000009.11:g.107553244A>G	(Likely) benign	1 lab	08e0b27452
X:148623383 MISSING C>Alt too long to show for this DUP	X	148623383	148654027	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.148623388_148654027dup	VUS	1 lab	08e23cc4fe
1:43408965 SLC2A1 C>T	1	43408965	43408965	C	T	SLC2A1	c.46G>A	NM_006516.4	NP_006507.2:p.(Val16Met)	NC_000001.10:g.43408965C>T	VUS	1 lab	08e495e704
X:66937432 AR G>A	X	66937432	66937432	G	A	AR	c.2286G>A	NM_000044.6	NP_000035.2:p.(Met762Ile)	NC_000023.10:g.66937432G>A	VUS	1 lab	08e7af4d40
2:50892645 NRXN1 Ref too long to show for this DEL>A	2	50892645	50937644	Ref too long to show for this DEL	A	NRXN1	c.833-86890_833-41893del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50892647_50937644del	VUS	1 lab	08e8217a79
16:966051 LMF1 A>C	16	966051	966051	A	C	LMF1	c.116-4972T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.966051A>C	(Likely) benign	1 lab	08eb76b65e
17:45214612 CDC27 A>C	17	45214612	45214612	A	C	CDC27	c.1837T>G	NM_001114091.4	NP_001107563.1:p.(Leu613Val)	NC_000017.10:g.45214612A>C	(Likely) benign	1 lab	08f1fcbf1b
4:46413001 MISSING T>Alt too long to show for this DUP	4	46413001	47001790	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.46413002_47001790dup	VUS	1 lab	08f2b18da8
5:13753598 DNAH5 C>T	5	13753598	13753598	C	T	DNAH5	c.10616G>A	NM_001369.3	NP_001360.1:p.(Arg3539His)	NC_000005.9:g.13753598C>T	(Likely) pathogenic	1 lab	08f32e6983
12:49420066 KMT2D TAGC>T	12	49420066	49420075	TAGC	T	KMT2D	c.15680_15682del	NM_003482.4	NP_003473.3:p.(Cys5227del)	NC_000012.11:g.49420073_49420075del	(Likely) pathogenic	1 lab	08f74018a6
17:28993035 MISSING Ref too long to show for this DEL>G	17	28993035	30412788	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.28993036_30412788del	(Likely) pathogenic	1 lab	08f768b140
8:42828458 HOOK3 C>T	8	42828458	42828458	C	T	HOOK3	c.1149C>T	NM_032410.4	NP_115786.1:p.(Ser383=)	NC_000008.10:g.42828458C>T	(Likely) benign	1 lab	08f7d65def
7:87630720 ADAM22 Ref too long to show for this DEL>G	7	87630720	87749412	Ref too long to show for this DEL	G	ADAM22	c.323+22997_607+3283del	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87630724_87749412del	VUS	1 lab	08f8ad29a1
X:129159056 BCORL1 C>T	X	129159056	129159056	C	T	BCORL1	c.3780C>T	NM_001184772.3	NP_001171701.1:p.(Pro1260=)	NC_000023.10:g.129159056C>T	(Likely) benign	1 lab	08feca18ef
7:100860054 PLOD3 C>T	7	100860054	100860054	C	T	PLOD3	c.123G>A	NM_001084.5	NP_001075.1:p.(Val41=)	NC_000007.13:g.100860054C>T	(Likely) benign	1 lab	08ff020913
2:184988372 MISSING Ref too long to show for this DEL>C	2	184988372	185970621	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.184988375_185970621del	VUS	1 lab	08ff5ed97f
1:55505224 PCSK9 G>A	1	55505224	55505224	G	A	PCSK9	c.-287G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505224G>A	(Likely) benign	1 lab	0900a35808
17:41245904 BRCA1 A>G	17	41245904	41245904	A	G	BRCA1	c.1644T>C	NM_007294.4	NP_009225.1:p.(Ile548=)	NC_000017.10:g.41245904A>G	(Likely) benign	1 lab	0903cfd27b
16:920053 LMF1 G>A	16	920053	920053	G	A	LMF1	c.1246C>T	NM_022773.4	NP_073610.2:p.(Arg416Trp)	NC_000016.9:g.920053G>A	(Likely) pathogenic	1 lab	0905716674
14:23855806 MYH6 C>T	14	23855806	23855806	C	T	MYH6	c.4677G>A	NM_002471.4	NP_002462.2:p.(Lys1559=)	NC_000014.8:g.23855806C>T	(Likely) benign	1 lab	090c19ccf9
11:46515220 MISSING A>Alt too long to show for this DUP	11	46515220	46680411	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.46515221_46680411dup	VUS	1 lab	090e3180a9
2:179623695 TTN A>G	2	179623695	179623695	A	G	TTN	c.10303+16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179623695A>G	(Likely) benign	1 lab	0911ef6452
6:31324205 HLA-B G>GCC	6	31324205	31324206	G	GCC	HLA-B	c.357_358insGG	NM_005514.8	NP_005505.2:p.(Gln120GlyfsTer32)	NC_000006.11:g.31324205_31324206insCC	(Likely) benign	1 lab	09140fd5b0
9:137707450 COL5A1 GC>G	9	137707450	137707457	GC	G	COL5A1	c.4050del	NM_000093.5	NP_000084.3:p.(Gly1351GlufsTer137)	NC_000009.11:g.137707457del	(Likely) pathogenic	1 lab	0916848b7a
11:102201964 BIRC3 AAG>A	11	102201964	102201967	AAG	A	BIRC3	c.1318_1319del	NM_001165.5	NP_001156.1:p.(Glu440IlefsTer3)	NC_000011.9:g.102201966_102201967del	(Likely) pathogenic	1 lab	0917879621
9:71836371 TJP2 G>A	9	71836371	71836371	G	A	TJP2	c.911G>A	NM_004817.4	NP_004808.2:p.(Gly304Glu)	NC_000009.11:g.71836371G>A	(Likely) benign	1 lab	0918b4d472
22:21917199 MISSING Ref too long to show for this DEL>G	22	21917199	22101274	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.21917200_22101274del	(Likely) pathogenic	1 lab	092025722d
22:46760648 CELSR1 C>T	22	46760648	46760648	C	T	CELSR1	c.8555-15G>A	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46760648C>T	(Likely) benign	1 lab	09215b1d1c
6:79724892 PHIP G>A	6	79724892	79724892	G	A	PHIP	c.1431C>T	NM_017934.7	NP_060404.4:p.(Phe477=)	NC_000006.11:g.79724892G>A	(Likely) benign	1 lab	0927e859ca
19:49693944 TRPM4 C>A	19	49693944	49693944	C	A	TRPM4	c.2133-9C>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49693944C>A	(Likely) benign	1 lab	09283d7748
5:118809675 HSD17B4 TAAG>T	5	118809675	118809681	TAAG	T	HSD17B4	c.189_191del	NM_000414.4	NP_000405.1:p.(Arg65del)	NC_000005.9:g.118809679_118809681del	(Likely) pathogenic	1 lab	092a698e3c
20:42744745 JPH2 C>T	20	42744745	42744745	C	T	JPH2	c.1570G>A	NM_020433.5	NP_065166.2:p.(Val524Ile)	NC_000020.10:g.42744745C>T	VUS	1 lab	092a97968f
1:156843388 NTRK1 G>A	1	156843388	156843388	G	A	NTRK1	c.851-37G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156843388G>A	(Likely) benign	1 lab	092cebda67
X:46322646 KRABD4 G>A	X	46322646	46322646	G	A	KRABD4	c.156G>A	NM_001129899.2	NP_001123371.1:p.(Ala52=)	NC_000023.10:g.46322646G>A	(Likely) benign	1 lab	092d8dc2db
9:137703451 COL5A1 T>A	9	137703451	137703451	T	A	COL5A1	c.3690+6T>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137703451T>A	(Likely) benign	1 lab	092f06df46
19:45411932 APOE G>A	19	45411932	45411932	G	A	APOE	c.379G>A	NM_000041.4	NP_000032.1:p.(Glu127Lys)	NC_000019.9:g.45411932G>A	VUS	1 lab	092f7a90a6
6:112466154 LAMA4 A>G	6	112466154	112466154	A	G	LAMA4	c.2354-19T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112466154A>G	(Likely) benign	1 lab	09304ea1d6
2:44065019 ABCG5 G>C	2	44065019	44065019	G	C	ABCG5	c.219C>G	NM_022436.3	NP_071881.1:p.(Ser73=)	NC_000002.11:g.44065019G>C	(Likely) benign	1 lab	0934ef6164
6:32012575 TNXB C>G	6	32012575	32012575	C	G	TNXB	c.10922-82G>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012575C>G	(Likely) benign	1 lab	0934f51d0b
10:90984990 LIPA G>A	10	90984990	90984990	G	A	LIPA	c.539-5C>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90984990G>A	(Likely) benign	1 lab	093930107d
19:47112219 CALM3 T>A	19	47112219	47112219	T	A	CALM3	c.402T>A	NM_005184.4	NP_005175.2:p.(Asp134Glu)	NC_000019.9:g.47112219T>A	VUS	1 lab	093a30276d
X:43541768 MAOA A>Alt too long to show for this DUP	X	43541768	43542779	A	Alt too long to show for this DUP	MAOA	c.74-992_92dup	NM_000240.4	NP_000231.1:p.?	NC_000023.10:g.43541769_43542779dup	VUS	1 lab	093b9d8cd6
12:38713970 ALG10B C>G	12	38713970	38713970	C	G	ALG10B	c.377C>G	NM_001013620.4	NP_001013642.2:p.(Ser126Ter)	NC_000012.11:g.38713970C>G	VUS	1 lab	093bea8806
14:24845686 NFATC4 T>C	14	24845686	24845686	T	C	NFATC4	c.2432T>C	NM_001136022.3	NP_001129494.1:p.(Leu811Pro)	NC_000014.8:g.24845686T>C	VUS	1 lab	093c881e54
10:112541296 RBM20 C>T	10	112541296	112541296	C	T	RBM20	c.929C>T	NM_001134363.3	NP_001127835.2:p.(Pro310Leu)	NC_000010.10:g.112541296C>T	VUS	1 lab	093cebe3a3
17:9989757 MISSING A>Alt too long to show for this DUP	17	9989757	10417287	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.9989759_10417287dup	VUS	1 lab	093d031e24
15:42775984 MISSING Ref too long to show for this DEL>C	15	42775984	42816601	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.42775986_42816601del	VUS	1 lab	093d882e89
8:87644966 CNGB3 C>T	8	87644966	87644966	C	T	CNGB3	c.1320+14G>A	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87644966C>T	(Likely) benign	1 lab	093e4c42e1
2:179414833 TTN C>T	2	179414833	179414833	C	T	TTN	c.91732G>A	NM_001267550.2	NP_001254479.2:p.(Val30578Ile)	NC_000002.11:g.179414833C>T	VUS	1 lab	093f43d827
8:41573288 ANK1 T>C	8	41573288	41573288	T	C	ANK1	c.1583A>G	NM_001142446.2	NP_001135918.1:p.(Asn528Ser)	NC_000008.10:g.41573288T>C	(Likely) benign	1 lab	094abf94d9
10:88447000 LDB3 G>A	10	88447000	88447000	G	A	LDB3	c.864G>A	NM_001171610.2	NP_001165081.1:p.(Gln288=)	NC_000010.10:g.88447000G>A	(Likely) benign	1 lab	0950b78a92
2:105977798 FHL2 C>T	2	105977798	105977798	C	T	FHL2	c.782G>A	NM_001318895.3	NP_001305824.1:p.(Arg261His)	NC_000002.11:g.105977798C>T	VUS	1 lab	0951e3258c
9:35689748 TPM2 C>T	9	35689748	35689748	C	T	TPM2	c.67G>A	NM_001301227.2	NP_001288156.1:p.(Glu23Lys)	NC_000009.11:g.35689748C>T	VUS	1 lab	0958decb21
1:55525203 PCSK9 G>A	1	55525203	55525203	G	A	PCSK9	c.1548G>A	NM_174936.4	NP_777596.2:p.(Gly516=)	NC_000001.10:g.55525203G>A	VUS	1 lab	095af5301c
11:85383223 MISSING Ref too long to show for this DEL>G	11	85383223	85629409	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.85383224_85629409del	VUS	1 lab	095b327829
12:52696930 KRT86 A>C	12	52696930	52696930	A	C	KRT86	c.416A>C	NM_001320198.2	NP_001307127.1:p.(Gln139Pro)	NC_000012.11:g.52696930A>C	(Likely) benign	1 lab	095bbb01a9
16:89999066 TUBB3 G>A	16	89999066	89999066	G	A	TUBB3	c.145G>A	NM_006086.4	NP_006077.2:p.(Val49Ile)	NC_000016.9:g.89999066G>A	VUS	1 lab	095c70e676
5:147819364 FBXO38 C>T	5	147819364	147819364	C	T	FBXO38	c.2945+9C>T	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147819364C>T	(Likely) benign	1 lab	095f4ed562
12:22066006 ABCC9 G>GA	12	22066006	22066016	G	GA	ABCC9	c.817-7dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066016dup	(Likely) benign	1 lab	0961bd1058
19:45412509 APOE C>T	19	45412509	45412509	C	T	APOE	c.*2C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45412509C>T	(Likely) benign	1 lab	09627e47f3
19:55316344 KIR2DL4 A>C	19	55316344	55316344	A	C	KIR2DL4	c.173A>C	NM_001080772.2	NP_001074241.1:p.(Asn58Thr)	NC_000019.9:g.55316344A>C	(Likely) benign	1 lab	09629a0fdb
21:33868069 MISSING T>Alt too long to show for this DUP	21	33868069	33985427	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.33868070_33985427dup	VUS	1 lab	0962bce517
9:130586567 ENG G>A	9	130586567	130586567	G	A	ENG	c.1134+16C>T	NM_001114753.3	NP_001108225.1:p.?	NC_000009.11:g.130586567G>A	(Likely) benign	1 lab	0967834dad
3:60522690 FHIT C>T	3	60522690	60522690	C	T	FHIT	c.6G>A	NM_002012.4	NP_002003.1:p.(Ser2=)	NC_000003.11:g.60522690C>T	(Likely) benign	1 lab	096ad25e21
17:39190954 KRTAP1-3 G>GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA	17	39190954	39191009	G	GCAGCAGCTTGGCTGGCAGCAGCTGGTCTCA	KRTAP1-3	c.90_119dup	NM_030966.2	NP_112228.1:p.(Glu31_Cys40dup)	NC_000017.10:g.39190980_39191009dup	(Likely) benign	1 lab	09715c263d
22:46790029 CELSR1 G>T	22	46790029	46790029	G	T	CELSR1	c.5964+10C>A	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46790029G>T	(Likely) benign	1 lab	097214e012
13:48807583 ITM2B C>A	13	48807583	48807583	C	A	ITM2B	c.87C>A	NM_021999.5	NP_068839.1:p.(Ile29=)	NC_000013.10:g.48807583C>A	(Likely) benign	1 lab	09735df214
9:107576491 ABCA1 C>T	9	107576491	107576491	C	T	ABCA1	c.3809G>A	NM_005502.4	NP_005493.2:p.(Arg1270Gln)	NC_000009.11:g.107576491C>T	(Likely) pathogenic	1 lab	0973ea2477
9:12694290 TYRP1 A>G	9	12694290	12694290	A	G	TYRP1	c.294A>G	NM_000550.3	NP_000541.1:p.(Thr98=)	NC_000009.11:g.12694290A>G	(Likely) benign	1 lab	0974b23e2e
11:47359450 MYBPC3 A>C	11	47359450	47359450	A	C	MYBPC3	c.2309-105T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359450A>C	(Likely) benign	1 lab	097a7baf18
15:45409732 DUOXA1 C>G	15	45409732	45409732	C	G	DUOXA1	c.1433G>C	NM_144565.4	NP_653166.2:p.(Arg478Pro)	NC_000015.9:g.45409732C>G	(Likely) benign	1 lab	097dde871f
12:116448188 MED13L Ref too long to show for this DEL>T	12	116448188	116493172	Ref too long to show for this DEL	T	MED13L	c.480-32765_1281-1252del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116448190_116493172del	(Likely) pathogenic	1 lab	097e38d798
5:178549790 ADAMTS2 C>T	5	178549790	178549790	C	T	ADAMTS2	c.2959-16G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178549790C>T	(Likely) benign	1 lab	097fa7fb06
15:73615209 HCN4 G>A	15	73615209	73615209	G	A	HCN4	c.3225C>T	NM_005477.3	NP_005468.1:p.(Thr1075=)	NC_000015.9:g.73615209G>A	(Likely) benign	1 lab	098045d8e0
2:219677157 CYP27A1 G>A	2	219677157	219677157	G	A	CYP27A1	c.646+13G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677157G>A	(Likely) benign	1 lab	0980d0765d
7:94035599 COL1A2 G>A	7	94035599	94035599	G	A	COL1A2	c.578G>A	NM_000089.4	NP_000080.2:p.(Gly193Asp)	NC_000007.13:g.94035599G>A	(Likely) pathogenic	1 lab	09827aa9a1
1:153968369 MISSING Ref too long to show for this DEL>C	1	153968369	154875120	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.153968372_154875120del	(Likely) pathogenic	1 lab	0983ba60e6
2:48033346 MSH6 G>C	2	48033346	48033346	G	C	MSH6	c.3650G>C	NM_000179.3	NP_000170.1:p.(Arg1217Thr)	NC_000002.11:g.48033346G>C	VUS	1 lab	098a993f62
7:122839967 SLC13A1 G>A	7	122839967	122839967	G	A	SLC13A1	c.34C>T	NM_022444.4	NP_071889.2:p.(Arg12Ter)	NC_000007.13:g.122839967G>A	VUS	1 lab	098b243acf
14:74994061 LTBP2 G>A	14	74994061	74994061	G	A	LTBP2	c.2377C>T	NM_000428.3	NP_000419.1:p.(Gln793Ter)	NC_000014.8:g.74994061G>A	(Likely) pathogenic	1 lab	098b871344
20:45354946 SLC2A10 C>A	20	45354946	45354946	C	A	SLC2A10	c.1271C>A	NM_030777.4	NP_110404.1:p.(Ser424Tyr)	NC_000020.10:g.45354946C>A	(Likely) pathogenic	1 lab	098c758d3a
8:92330424 SLC26A7 C>A	8	92330424	92330424	C	A	SLC26A7	c.478-20C>A	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92330424C>A	(Likely) benign	1 lab	098c841f9d
11:2594193 KCNQ1 G>A	11	2594193	2594193	G	A	KCNQ1	c.898G>A	NM_000218.3	NP_000209.2:p.(Ala300Thr)	NC_000011.9:g.2594193G>A	VUS	1 lab	098f2dc5b9
2:48033650 MSH6 T>C	2	48033650	48033650	T	C	MSH6	c.3861T>C	NM_000179.3	NP_000170.1:p.(Tyr1287=)	NC_000002.11:g.48033650T>C	(Likely) benign	1 lab	09906cae77
3:133327432 TOPBP1 C>A	3	133327432	133327432	C	A	TOPBP1	c.4372G>T	NM_007027.4	NP_008958.2:p.(Ala1458Ser)	NC_000003.11:g.133327432C>A	(Likely) benign	1 lab	09921b228f
16:53639448 RPGRIP1L G>A	16	53639448	53639448	G	A	RPGRIP1L	c.3678C>T	NM_001330538.2	NP_001317467.1:p.(Val1226=)	NC_000016.9:g.53639448G>A	(Likely) benign	1 lab	0992a63273
3:161221009 OTOL1 T>G	3	161221009	161221009	T	G	OTOL1	c.713T>G	NM_001080440.1	NP_001073909.1:p.(Met238Arg)	NC_000003.11:g.161221009T>G	(Likely) benign	1 lab	0992d344f3
12:92817816 MISSING T>Alt too long to show for this DUP	12	92817816	93082423	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.92817817_93082423dup	VUS	1 lab	099a782d40
3:154861318 MME G>C	3	154861318	154861318	G	C	MME	c.1275G>C	NM_007289.4	NP_009220.2:p.(Arg425Ser)	NC_000003.11:g.154861318G>C	VUS	1 lab	099b2e8110
16:89348663 ANKRD11 ATCTT>A	16	89348663	89348672	ATCTT	A	ANKRD11	c.4283_4286del	NM_013275.6	NP_037407.4:p.(Lys1428IlefsTer13)	NC_000016.9:g.89348669_89348672del	(Likely) pathogenic	1 lab	099e29dc63
5:38490403 LIFR G>A	5	38490403	38490403	G	A	LIFR	c.2066-10C>T	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38490403G>A	(Likely) benign	1 lab	099ecb8bd1
22:41923318 ACO2 C>T	22	41923318	41923318	C	T	ACO2	c.1980C>T	NM_001098.3	NP_001089.1:p.(Ile660=)	NC_000022.10:g.41923318C>T	(Likely) benign	1 lab	09a02d08ea
16:57007387 CETP C>T	16	57007387	57007387	C	T	CETP	c.895C>T	NM_000078.3	NP_000069.2:p.(Arg299Cys)	NC_000016.9:g.57007387C>T	VUS	1 lab	09a39acc2e
2:44101627 ABCG8 C>T	2	44101627	44101627	C	T	ABCG8	c.1488+5C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101627C>T	(Likely) benign	1 lab	09a5ef25d2
9:113197657 SVEP1 T>C	9	113197657	113197657	T	C	SVEP1	c.4765-13A>G	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113197657T>C	(Likely) benign	1 lab	09a90f19ae
11:104979027 MISSING T>Alt too long to show for this DUP	11	104979027	105730680	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.104979029_105730680dup	VUS	1 lab	09aa516a0e
10:69130448 CTNNA3 T>Alt too long to show for this DUP	10	69130448	69222108	T	Alt too long to show for this DUP	CTNNA3	c.579+59493_580-150821dup	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69130450_69222108dup	VUS	1 lab	09ab3cd68c
22:50900855 SBF1 G>A	22	50900855	50900855	G	A	SBF1	c.2175C>T	NM_002972.4	NP_002963.2:p.(Asp725=)	NC_000022.10:g.50900855G>A	(Likely) benign	1 lab	09ab8b870e
16:88498804 ZNF469 G>A	16	88498804	88498804	G	A	ZNF469	c.4926G>A	NM_001367624.2	NP_001354553.1:p.(Ser1642=)	NC_000016.9:g.88498804G>A	(Likely) benign	1 lab	09ade4d71d
2:21230724 APOB C>T	2	21230724	21230724	C	T	APOB	c.9016G>A	NM_000384.3	NP_000375.3:p.(Gly3006Ser)	NC_000002.11:g.21230724C>T	(Likely) benign	1 lab	09ae3e2f27
19:13342531 CACNA1A G>A	19	13342531	13342531	G	A	CACNA1A	c.5411C>T	NM_023035.3	NP_075461.2:p.(Ser1804Leu)	NC_000019.9:g.13342531G>A	(Likely) pathogenic	1 lab	09aec8f3be
10:64038757 MISSING T>Alt too long to show for this DUP	10	64038757	64139200	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.64038758_64139200dup	VUS	1 lab	09b1baf8ea
5:131944964 RAD50 C>CT	5	131944964	131944970	C	CT	RAD50	c.2923-5dup	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131944970dup	(Likely) benign	1 lab	09b2f96226
X:107878666 MISSING T>Alt too long to show for this DUP	X	107878666	108001240	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.107878667_108001240dup	VUS	1 lab	09b5c72053
19:11217342 LDLR G>A	19	11217342	11217342	G	A	LDLR	c.796G>A	NM_000527.5	NP_000518.1:p.(Asp266Asn)	NC_000019.9:g.11217342G>A	(Likely) pathogenic	1 lab	09b6b9a3f7
5:173508494 MISSING T>Alt too long to show for this DUP	5	173508494	173589734	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.173508495_173589734dup	VUS	1 lab	09b7cfb2c6
19:11222720 LDLR A>C	19	11222720	11222720	A	C	LDLR	c.1186+405A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222720A>C	(Likely) benign	1 lab	09b8ddd75a
1:201333456 TNNT2 C>T	1	201333456	201333456	C	T	TNNT2	c.429G>A	NM_001276347.2	NP_001263276.1:p.(Glu143=)	NC_000001.10:g.201333456C>T	(Likely) benign	1 lab	09b991d3e5
1:12064635 MFN2 C>T	1	12064635	12064635	C	T	MFN2	c.1357C>T	NM_014874.4	NP_055689.1:p.(His453Tyr)	NC_000001.10:g.12064635C>T	VUS	1 lab	09bbba0343
2:212495336 ERBB4 GA>G	2	212495336	212495347	GA	G	ERBB4	c.1947-18del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212495347del	(Likely) benign	1 lab	09bfa4c871
16:71420575 MISSING A>Alt too long to show for this DUP	16	71420575	71478249	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71420577_71478249dup	VUS	1 lab	09c07ad411
2:96952032 SNRNP200 G>C	2	96952032	96952032	G	C	SNRNP200	c.4003+17C>G	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96952032G>C	(Likely) benign	1 lab	09c34051ed
6:112438923 LAMA4 T>C	6	112438923	112438923	T	C	LAMA4	c.4981+19A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112438923T>C	(Likely) benign	1 lab	09c3effc1a
8:63576315 NKAIN3 G>Alt too long to show for this DUP	8	63576315	63682391	G	Alt too long to show for this DUP	NKAIN3	c.273+73964_471+22703dup	NM_001304533.3	NP_001291462.1:p.?	NC_000008.10:g.63576317_63682391dup	VUS	1 lab	09c55e3452
4:114264159 ANK2 CT>C	4	114264159	114264160	CT	C	ANK2	c.4123-13del	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114264160del	(Likely) benign	1 lab	09cde9a0c8
4:57515748 HOPX Ref too long to show for this DEL>T	4	57515748	57551437	Ref too long to show for this DEL	T	HOPX				NC_000004.11:g.57515749_57551437del	VUS	1 lab	09cf1c16ed
17:45214616 CDC27 A>C	17	45214616	45214616	A	C	CDC27	c.1833T>G	NM_001114091.4	NP_001107563.1:p.(Thr611=)	NC_000017.10:g.45214616A>C	(Likely) benign	1 lab	09d12491fc
19:35524772 SCN1B G>A	19	35524772	35524772	G	A	SCN1B	c.577G>A	NM_199037.5	NP_950238.1:p.(Glu193Lys)	NC_000019.9:g.35524772G>A	VUS	1 lab	21258facb2
10:77191503 LRMDA T>C	10	77191503	77191503	T	C	LRMDA	c.21T>C	NM_001305581.2	NP_001292510.1:p.(Arg7=)	NC_000010.10:g.77191503T>C	(Likely) benign	1 lab	09d2a407c5
2:179475800 TTN C>T	2	179475800	179475800	C	T	TTN	c.51056G>A	NM_001267550.2	NP_001254479.2:p.(Arg17019His)	NC_000002.11:g.179475800C>T	VUS	1 lab	09d5b9ec53
13:103436594 MISSING T>Alt too long to show for this DUP	13	103436594	103492584	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.103436595_103492584dup	(Likely) pathogenic	1 lab	09d71c4b7c
3:43408415 ANO10 TC>T	3	43408415	43408418	TC	T	ANO10	c.1965del	NM_018075.5	NP_060545.3:p.(Lys656ArgfsTer108)	NC_000003.11:g.43408418del	VUS	1 lab	09d73c0c9a
15:34542503 SLC12A6 C>T	15	34542503	34542503	C	T	SLC12A6	c.1618G>A	NM_001042496.2	NP_001035961.1:p.(Asp540Asn)	NC_000015.9:g.34542503C>T	VUS	1 lab	09d868f1f4
11:116701293 APOC3 G>A	11	116701293	116701293	G	A	APOC3	c.-6G>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701293G>A	VUS	1 lab	09dabd439f
15:23892004 MAGEL2 C>G	15	23892004	23892004	C	G	MAGEL2	c.886G>C	NM_019066.5	NP_061939.3:p.(Ala296Pro)	NC_000015.9:g.23892004C>G	(Likely) benign	1 lab	09dc364ef7
16:940353 LMF1 T>C	16	940353	940353	T	C	LMF1	c.330+2654A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.940353T>C	(Likely) benign	1 lab	09dc3741d6
16:68835797 CDH1 G>A	16	68835797	68835797	G	A	CDH1	c.387+1G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68835797G>A	VUS	1 lab	09dc951576
6:26124354 LOC126859626 Ref too long to show for this DEL>T	6	26124354	26125025	Ref too long to show for this DEL	T	LOC126859626				NC_000006.11:g.26124355_26125025del	VUS	1 lab	09dd4b9b89
2:179463526 TTN C>T	2	179463526	179463526	C	T	TTN	c.56911G>A	NM_001267550.2	NP_001254479.2:p.(Val18971Met)	NC_000002.11:g.179463526C>T	VUS	1 lab	09de048572
6:75812424 COL12A1 G>C	6	75812424	75812424	G	C	COL12A1	c.8320-16C>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75812424G>C	(Likely) benign	1 lab	09dfe419ac
5:70931883 MCCC2 G>A	5	70931883	70931883	G	A	MCCC2	c.999+810G>A	NM_022132.5	NP_071415.1:p.?	NC_000005.9:g.70931883G>A	(Likely) benign	1 lab	179451efe4
19:11227549 LDLR C>T	19	11227549	11227549	C	T	LDLR	c.1720C>T	NM_000527.5	NP_000518.1:p.(Arg574Cys)	NC_000019.9:g.11227549C>T	(Likely) pathogenic	1 lab	09e019383f
6:16147349 MYLIP T>C	6	16147349	16147349	T	C	MYLIP	c.*367T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16147349T>C	(Likely) benign	1 lab	09e05dd3ea
2:44051572 ABCG5 C>T	2	44051572	44051572	C	T	ABCG5	c.905-1G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051572C>T	(Likely) benign	1 lab	09e43a0002
22:37325704 CSF2RB C>T	22	37325704	37325704	C	T	CSF2RB	c.573C>T	NM_000395.3	NP_000386.1:p.(Asn191=)	NC_000022.10:g.37325704C>T	(Likely) benign	1 lab	09e4546959
15:48773888 FBN1 C>A	15	48773888	48773888	C	A	FBN1	c.3928G>T	NM_000138.5	NP_000129.3:p.(Gly1310Cys)	NC_000015.9:g.48773888C>A	(Likely) pathogenic	1 lab	09e60b8b8a
19:40903760 PRX G>A	19	40903760	40903760	G	A	PRX	c.499C>T	NM_181882.3	NP_870998.2:p.(Arg167Cys)	NC_000019.9:g.40903760G>A	VUS	1 lab	09e9ec7a78
7:103126866 RELN A>G	7	103126866	103126866	A	G	RELN	c.9764-3T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103126866A>G	(Likely) benign	1 lab	09eb84a5ed
10:75832594 VCL G>A	10	75832594	75832594	G	A	VCL	c.606G>A	NM_014000.3	NP_054706.1:p.(Leu202=)	NC_000010.10:g.75832594G>A	(Likely) benign	1 lab	09ecac0b83
12:57928880 DCTN2 G>A	12	57928880	57928880	G	A	DCTN2	c.337C>T	NM_006400.5	NP_006391.1:p.(His113Tyr)	NC_000012.11:g.57928880G>A	VUS	1 lab	09ed0bfd86
2:179631162 TTN C>T	2	179631162	179631162	C	T	TTN	c.9649G>A	NM_001267550.2	NP_001254479.2:p.(Glu3217Lys)	NC_000002.11:g.179631162C>T	VUS	1 lab	09f0e23db8
4:95771729 BMPR1B Ref too long to show for this DEL>G	4	95771729	95841553	Ref too long to show for this DEL	G	BMPR1B	c.-182-25250_-113+44502del	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.95771732_95841553del	VUS	1 lab	09f91dcd5f
3:118644965 IGSF11 Ref too long to show for this DEL>G	3	118644965	118753182	Ref too long to show for this DEL	G	IGSF11	c.52+197_562del	NM_001015887.3	NP_001015887.1:p.?	NC_000003.11:g.118644967_118753182del	VUS	1 lab	09fc01cd92
2:179614110 TTN A>T	2	179614110	179614110	A	T	TTN	c.13017T>A	NM_133379.5	NP_596870.2:p.(Gly4339=)	NC_000002.11:g.179614110A>T	(Likely) benign	1 lab	09fdd5e399
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAA	SAR1B	c.244+33_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948355_133948371dup	(Likely) benign	1 lab	09fdeb5956
3:38674645 SCN5A G>A	3	38674645	38674645	G	A	SCN5A	c.154C>T	NM_198056.3	NP_932173.1:p.(Pro52Ser)	NC_000003.11:g.38674645G>A	VUS	1 lab	09fe1af3e4
3:128205027 GATA2 G>T	3	128205027	128205027	G	T	GATA2	c.414C>A	NM_032638.5	NP_116027.2:p.(Leu138=)	NC_000003.11:g.128205027G>T	(Likely) benign	1 lab	0a009840d0
1:161276510 MPZ C>A	1	161276510	161276510	C	A	MPZ	c.436G>T	NM_000530.8	NP_000521.2:p.(Val146Phe)	NC_000001.10:g.161276510C>A	(Likely) pathogenic	1 lab	0a018dba3c
1:3321337 PRDM16 C>T	1	3321337	3321337	C	T	PRDM16	c.919C>T	NM_022114.4	NP_071397.3:p.(Arg307Cys)	NC_000001.10:g.3321337C>T	VUS	1 lab	0a03da9ba9
18:47116543 LIPG T>TTGTGTG	18	47116543	47116578	T	TTGTGTG	LIPG	c.1482-298_1482-293dup	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116573_47116578dup	(Likely) benign	1 lab	0a03f17324
15:63354492 TPM1 T>C	15	63354492	63354492	T	C	TPM1	c.702+16T>C	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63354492T>C	(Likely) benign	1 lab	0a0ab013b0
16:70211370 CLEC18C C>G	16	70211370	70211370	C	G	CLEC18C	c.443C>G	NM_173619.4	NP_775890.2:p.(Thr148Ser)	NC_000016.9:g.70211370C>G	(Likely) benign	1 lab	0a0b54aa8d
1:25870285 LDLRAP1 T>A	1	25870285	25870285	T	A	LDLRAP1	c.88+8T>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870285T>A	(Likely) benign	1 lab	0a0bc61a5d
5:110097350 SLC25A46 C>G	5	110097350	110097350	C	G	SLC25A46	c.1125C>G	NM_138773.4	NP_620128.1:p.(Thr375=)	NC_000005.9:g.110097350C>G	(Likely) benign	1 lab	0a0c3bbe04
5:130640104 CDC42SE2 Ref too long to show for this DEL>A	5	130640104	130678919	Ref too long to show for this DEL	A	CDC42SE2	c.-454-11564_-285-15983del	NM_001375635.1	NP_001362564.1:p.?	NC_000005.9:g.130640105_130678919del	VUS	1 lab	0a0da3d528
4:100503162 MTTP C>T	4	100503162	100503162	C	T	MTTP	c.162C>T	NM_000253.4	NP_000244.2:p.(Ser54=)	NC_000004.11:g.100503162C>T	(Likely) benign	1 lab	0a0e633625
10:67680099 CTNNA3 G>T	10	67680099	67680099	G	T	CTNNA3	c.2677C>A	NM_013266.4	NP_037398.2:p.(Gln893Lys)	NC_000010.10:g.67680099G>T	VUS	1 lab	0a112c62c9
12:118016982 KSR2 G>A	12	118016982	118016982	G	A	KSR2	c.1267C>T	NM_173598.6	NP_775869.4:p.(Gln423Ter)	NC_000012.11:g.118016982G>A	VUS	1 lab	0a11d87719
7:155599010 SHH A>G	7	155599010	155599010	A	G	SHH	c.542T>C	NM_000193.4	NP_000184.1:p.(Ile181Thr)	NC_000007.13:g.155599010A>G	VUS	1 lab	0a12a1e31a
7:155599414 SHH G>A	7	155599414	155599414	G	A	SHH	c.30C>T	NM_001310462.2	NP_001297391.1:p.(Pro10=)	NC_000007.13:g.155599414G>A	(Likely) benign	1 lab	0a12a6a375
16:2106692 TSC2 G>A	16	2106692	2106692	G	A	TSC2	c.696G>A	NM_000548.5	NP_000539.2:p.(Pro232=)	NC_000016.9:g.2106692G>A	(Likely) benign	1 lab	0a14abd247
2:21234012 APOB G>A	2	21234012	21234012	G	A	APOB	c.5728C>T	NM_000384.3	NP_000375.3:p.(His1910Tyr)	NC_000002.11:g.21234012G>A	VUS	1 lab	0a155b19ad
3:14172448 TMEM43 A>G	3	14172448	14172448	A	G	TMEM43	c.289A>G	NM_024334.3	NP_077310.1:p.(Thr97Ala)	NC_000003.11:g.14172448A>G	VUS	1 lab	0a160a4789
7:116398520 MET A>G	7	116398520	116398520	A	G	MET	c.2110A>G	NM_001127500.3	NP_001120972.1:p.(Asn704Asp)	NC_000007.13:g.116398520A>G	VUS	1 lab	0a1e647e8c
9:27062721 IFT74 C>T	9	27062721	27062721	C	T	IFT74	c.1790C>T	NM_001099222.3	NP_001092692.1:p.(Thr597Ile)	NC_000009.11:g.27062721C>T	(Likely) benign	1 lab	0a22346753
18:72775777 ZNF407 G>A	18	72775777	72775777	G	A	ZNF407	c.6100G>A	NM_017757.3	NP_060227.2:p.(Asp2034Asn)	NC_000018.9:g.72775777G>A	(Likely) benign	1 lab	0a235ea933
15:48937152 FBN1 AAC>A	15	48937152	48937157	AAC	A	FBN1	c.-181-7_-181-6del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48937156_48937157del	(Likely) benign	1 lab	0a239a7ef2
19:50912816 POLD1 C>T	19	50912816	50912816	C	T	POLD1	c.2047C>T	NM_001256849.1	NP_001243778.1:p.(Arg683Cys)	NC_000019.9:g.50912816C>T	VUS	1 lab	0a27d1d49b
1:197392682 CRB1 T>C	1	197392682	197392682	T	C	CRB1	c.1921+1596T>C	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197392682T>C	(Likely) benign	1 lab	0a2897ab3d
6:100868712 SIM1 C>T	6	100868712	100868712	C	T	SIM1	c.1121G>A	NM_005068.3	NP_005059.2:p.(Arg374Gln)	NC_000006.11:g.100868712C>T	(Likely) benign	1 lab	0a2938ad44
9:107576648 ABCA1 A>G	9	107576648	107576648	A	G	ABCA1	c.3787+60T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576648A>G	(Likely) benign	1 lab	0a2c0454b4
1:55521313 PCSK9 G>T	1	55521313	55521313	G	T	PCSK9	c.800-353G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521313G>T	(Likely) benign	1 lab	0a2cb1b143
10:69881601 MYPN A>C	10	69881601	69881601	A	C	MYPN	c.406A>C	NM_032578.4	NP_115967.2:p.(Lys136Gln)	NC_000010.10:g.69881601A>C	VUS	1 lab	0a2d260da4
2:179599298 TTN C>T	2	179599298	179599298	C	T	TTN	c.11521G>A	NM_133378.4	NP_596869.4:p.(Asp3841Asn)	NC_000002.11:g.179599298C>T	VUS	1 lab	0a2e69c3dc
7:94039044 COL1A2 G>A	7	94039044	94039044	G	A	COL1A2	c.946G>A	NM_000089.4	NP_000080.2:p.(Gly316Ser)	NC_000007.13:g.94039044G>A	(Likely) pathogenic	1 lab	0a311f2915
11:117242056 CEP164 C>G	11	117242056	117242056	C	G	CEP164	c.1026C>G	NM_014956.5	NP_055771.4:p.(Ala342=)	NC_000011.9:g.117242056C>G	(Likely) benign	1 lab	0a33d12a25
16:57017552 CETP G>A	16	57017552	57017552	G	A	CETP	c.1456G>A	NM_000078.3	NP_000069.2:p.(Val486Met)	NC_000016.9:g.57017552G>A	(Likely) benign	1 lab	0a3df02efe
3:38591854 SCN5A G>T	3	38591854	38591854	G	T	SCN5A	c.6009C>A	NM_198056.3	NP_932173.1:p.(Asp2003Glu)	NC_000003.11:g.38591854G>T	VUS	1 lab	0a41382fe0
10:112590973 RBM20 G>A	10	112590973	112590973	G	A	RBM20	c.3573+33G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112590973G>A	(Likely) benign	1 lab	0a416704dc
12:863505 WNK1 A>C	12	863505	863505	A	C	WNK1	c.759+15A>C	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.863505A>C	(Likely) benign	1 lab	0a4485ae95
9:27197486 TEK G>T	9	27197486	27197486	G	T	TEK	c.1798G>T	NM_000459.5	NP_000450.3:p.(Val600Leu)	NC_000009.11:g.27197486G>T	(Likely) benign	1 lab	0a44dac209
9:101907091 TGFBR1 G>T	9	101907091	101907091	G	T	TGFBR1	c.1051G>T	NM_004612.4	NP_004603.1:p.(Asp351Tyr)	NC_000009.11:g.101907091G>T	(Likely) pathogenic	1 lab	0a47b422ab
16:19087167 COQ7 C>T	16	19087167	19087167	C	T	COQ7	c.450C>T	NM_001370489.1	NP_001357418.1:p.(Tyr150=)	NC_000016.9:g.19087167C>T	(Likely) benign	1 lab	0a48cdd77e
8:82357163 PMP2 C>T	8	82357163	82357163	C	T	PMP2	c.135G>A	NM_002677.5	NP_002668.1:p.(Lys45=)	NC_000008.10:g.82357163C>T	(Likely) benign	1 lab	0a49206e0d
1:90178665 LRRC8C C>T	1	90178665	90178665	C	T	LRRC8C	c.536C>T	NM_032270.5	NP_115646.3:p.(Ser179Phe)	NC_000001.10:g.90178665C>T	VUS	1 lab	0a4990a654
2:110922131 NPHP1 C>T	2	110922131	110922131	C	T	NPHP1	c.905G>A	NM_000272.5	NP_000263.2:p.(Gly302Glu)	NC_000002.11:g.110922131C>T	(Likely) benign	1 lab	0a499ce611
1:235543476 TBCE TTGTGTGTGTGTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTGTGTGTGTGTG	T	TBCE	c.100+40_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543504_235543529del	(Likely) benign	1 lab	0a4f1f06ee
20:61040564 GATA5 C>T	20	61040564	61040564	C	T	GATA5	c.914-44G>A	NM_080473.5	NP_536721.1:p.?	NC_000020.10:g.61040564C>T	(Likely) benign	1 lab	0a4f9d8ea9
6:16145473 MYLIP C>T	6	16145473	16145473	C	T	MYLIP	c.1173C>T	NM_013262.4	NP_037394.2:p.(Cys391=)	NC_000006.11:g.16145473C>T	(Likely) benign	1 lab	0a5128a320
11:68154067 LRP5 C>T	11	68154067	68154067	C	T	LRP5	c.1299C>T	NM_002335.4	NP_002326.2:p.(Thr433=)	NC_000011.9:g.68154067C>T	(Likely) benign	1 lab	0a51649be9
9:35703554 TLN1 C>T	9	35703554	35703554	C	T	TLN1	c.6474+3G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35703554C>T	(Likely) benign	1 lab	0a8d13c3cb
2:21233227 APOB T>C	2	21233227	21233227	T	C	APOB	c.6513A>G	NM_000384.3	NP_000375.3:p.(Leu2171=)	NC_000002.11:g.21233227T>C	(Likely) benign	1 lab	0a55e2efbc
X:152957476 SLC6A8 C>G	X	152957476	152957476	C	G	SLC6A8	c.691C>G	NM_005629.4	NP_005620.1:p.(Leu231Val)	NC_000023.10:g.152957476C>G	(Likely) benign	1 lab	0a5e0d8c05
3:98304403 CPOX G>A	3	98304403	98304403	G	A	CPOX	c.1054C>T	NM_000097.7	NP_000088.3:p.(Arg352Cys)	NC_000003.11:g.98304403G>A	(Likely) benign	1 lab	0a5e4b06ea
6:7579695 DSP A>G	6	7579695	7579695	A	G	DSP	c.3272A>G	NM_004415.4	NP_004406.2:p.(Lys1091Arg)	NC_000006.11:g.7579695A>G	VUS	1 lab	0a5f86200a
5:10256095 CCT5 G>A	5	10256095	10256095	G	A	CCT5	c.195G>A	NM_001306154.2	NP_001293083.1:p.(Ala65=)	NC_000005.9:g.10256095G>A	(Likely) benign	1 lab	0a661a298e
17:36483374 GPR179 T>A	17	36483374	36483374	T	A	GPR179	c.6078A>T	NM_001004334.4	NP_001004334.3:p.(Arg2026Ser)	NC_000017.10:g.36483374T>A	(Likely) benign	1 lab	0a691fa896
2:105472058 POU3F3 C>T	2	105472058	105472058	C	T	POU3F3	c.90C>T	NM_006236.3	NP_006227.1:p.(Gly30=)	NC_000002.11:g.105472058C>T	(Likely) benign	1 lab	0a69d4c9a7
19:1220596 STK11 C>T	19	1220596	1220596	C	T	STK11	c.614C>T	NM_000455.5	NP_000446.1:p.(Ala205Val)	NC_000019.9:g.1220596C>T	(Likely) benign	1 lab	0a717c7e45
X:151358249 GABRA3 T>A	X	151358249	151358249	T	A	GABRA3	c.1096A>T	NM_000808.4	NP_000799.1:p.(Ser366Cys)	NC_000023.10:g.151358249T>A	VUS	1 lab	0a7738ffae
22:44083346 EFCAB6 C>A	22	44083346	44083346	C	A	EFCAB6	c.1142+5G>T	NM_022785.4	NP_073622.2:p.?	NC_000022.10:g.44083346C>A	(Likely) benign	1 lab	0a7a94595c
12:23998926 SOX5 C>T	12	23998926	23998926	C	T	SOX5	c.433G>A	NM_152989.5	NP_694534.1:p.(Glu145Lys)	NC_000012.11:g.23998926C>T	VUS	1 lab	0a7bb07d0f
12:50502917 GPD1 CAAA>C	12	50502917	50502941	CAAA	C	GPD1	c.954-267_954-265del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502939_50502941del	(Likely) benign	1 lab	0a7d9d7a8e
2:120900587 MISSING Ref too long to show for this DEL>G	2	120900587	120959797	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.120900588_120959797del	VUS	1 lab	0a80077523
2:149226107 MBD5 C>T	2	149226107	149226107	C	T	MBD5	c.595C>T	NM_018328.5	NP_060798.2:p.(Pro199Ser)	NC_000002.11:g.149226107C>T	(Likely) benign	1 lab	0a82b97212
2:44053564 ABCG5 A>G	2	44053564	44053564	A	G	ABCG5	c.731T>C	NM_022436.3	NP_071881.1:p.(Ile244Thr)	NC_000002.11:g.44053564A>G	(Likely) pathogenic	1 lab	0a84a159b1
9:139401872 NOTCH1 G>A	9	139401872	139401872	G	A	NOTCH1	c.3528C>T	NM_017617.5	NP_060087.3:p.(His1176=)	NC_000009.11:g.139401872G>A	(Likely) benign	1 lab	0a867e50fc
2:44101607 ABCG8 A>G	2	44101607	44101607	A	G	ABCG8	c.1473A>G	NM_022437.3	NP_071882.1:p.(Pro491=)	NC_000002.11:g.44101607A>G	(Likely) benign	1 lab	0a86d1403b
13:97771606 MISSING C>Alt too long to show for this DUP	13	97771606	97813173	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.97771607_97813173dup	VUS	1 lab	0a89e7d5d5
15:55724734 DNAAF4 G>A	15	55724734	55724734	G	A	DNAAF4	c.1114C>T	NM_130810.4	NP_570722.2:p.(Arg372Cys)	NC_000015.9:g.55724734G>A	(Likely) pathogenic	1 lab	0a8a48ce92
13:103515308 BIVM-ERCC5 G>A	13	103515308	103515308	G	A	BIVM-ERCC5	c.3171G>A	NM_001204425.2	NP_001191354.2:p.(Val1057=)	NC_000013.10:g.103515308G>A	(Likely) benign	1 lab	0a8b433bbe
22:23654162 MISSING Ref too long to show for this DEL>A	22	23654162	23712197	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.23654164_23712197del	VUS	1 lab	0a8f15241b
X:70444099 GJB1 T>C	X	70444099	70444099	T	C	GJB1	c.542T>C	NM_000166.6	NP_000157.1:p.(Val181Ala)	NC_000023.10:g.70444099T>C	(Likely) pathogenic	1 lab	0a90a175e8
1:25883742 LDLRAP1 G>C	1	25883742	25883742	G	C	LDLRAP1	c.443G>C	NM_015627.3	NP_056442.2:p.(Cys148Ser)	NC_000001.10:g.25883742G>C	VUS	1 lab	0a90d6b5e2
20:45018005 ELMO2 GTT>G	20	45018005	45018008	GTT	G	ELMO2	c.244-148_244-147del	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45018007_45018008del	(Likely) benign	1 lab	0a97149dac
13:49039120 RB1 C>T	13	49039120	49039120	C	T	RB1	c.2212-14C>T	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039120C>T	(Likely) benign	1 lab	0a9826000e
12:48143526 RAPGEF3 T>C	12	48143526	48143526	T	C	RAPGEF3	c.892A>G	NM_001098531.4	NP_001092001.2:p.(Lys298Glu)	NC_000012.11:g.48143526T>C	VUS	1 lab	0a98ab1f6f
16:15937657 MISSING T>Alt too long to show for this DUP	16	15937657	16295900	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15937658_16295900dup	(Likely) pathogenic	1 lab	0a99c8cb66
15:58855169 LIPC G>A	15	58855169	58855169	G	A	LIPC	c.1170-535G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855169G>A	(Likely) benign	1 lab	0a9e686e63
5:112176269 APC C>G	5	112176269	112176269	C	G	APC	c.4978C>G	NM_000038.6	NP_000029.2:p.(Leu1660Val)	NC_000005.9:g.112176269C>G	VUS	1 lab	0aa053aaf3
22:31331113 MORC2 G>A	22	31331113	31331113	G	A	MORC2	c.1662C>T	NM_014941.3	NP_055756.1:p.(Pro554=)	NC_000022.10:g.31331113G>A	(Likely) benign	1 lab	0aa21477b9
16:984018 LMF1 G>A	16	984018	984018	G	A	LMF1	c.88C>T	NM_001352018.2	NP_001338947.1:p.(Arg30Cys)	NC_000016.9:g.984018G>A	VUS	1 lab	0aa35958bd
17:39927945 JUP C>G	17	39927945	39927945	C	G	JUP	c.162G>C	NM_001352773.2	NP_001339702.1:p.(Thr54=)	NC_000017.10:g.39927945C>G	(Likely) benign	1 lab	0aa36640a3
X:122622933 GRIA3 T>TACAC	X	122622933	122622968	T	TACAC	GRIA3	c.*404_*407dup	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122622965_122622968dup	(Likely) benign	1 lab	0aa3d7cf86
16:68847386 CDH1 G>A	16	68847386	68847386	G	A	CDH1	c.1308G>A	NM_004360.5	NP_004351.1:p.(Leu436=)	NC_000016.9:g.68847386G>A	(Likely) benign	1 lab	0aa97911c0
2:179666962 TTN C>T	2	179666962	179666962	C	T	TTN	c.198G>A	NM_001267550.2	NP_001254479.2:p.(Thr66=)	NC_000002.11:g.179666962C>T	(Likely) benign	1 lab	0aa9c30de8
15:44914418 SPG11 C>G	15	44914418	44914418	C	G	SPG11	c.2444G>C	NM_025137.4	NP_079413.3:p.(Arg815Thr)	NC_000015.9:g.44914418C>G	(Likely) pathogenic	1 lab	0aaaead8a6
15:65946398 SLC24A1 C>T	15	65946398	65946398	C	T	SLC24A1	c.3281C>T	NM_004727.3	NP_004718.1:p.(Ser1094Phe)	NC_000015.9:g.65946398C>T	(Likely) benign	1 lab	0aad62da2e
16:10032002 GRIN2A G>T	16	10032002	10032002	G	T	GRIN2A	c.821C>A	NM_001134407.3	NP_001127879.1:p.(Ser274Ter)	NC_000016.9:g.10032002G>T	(Likely) pathogenic	1 lab	0aaf3f14e5
15:23892095 MAGEL2 TGCTGGAGGCG>T	15	23892095	23892111	TGCTGGAGGCG	T	MAGEL2	c.785_794del	NM_019066.5	NP_061939.3:p.(Pro262GlnfsTer3)	NC_000015.9:g.23892102_23892111del	(Likely) pathogenic	1 lab	0ab1994803
7:94030877 COL1A2 A>G	7	94030877	94030877	A	G	COL1A2	c.226-2A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94030877A>G	(Likely) pathogenic	1 lab	0ab1d24eaa
20:10629387 JAG1 G>GGA	20	10629387	10629397	G	GGA	JAG1	c.1396-19_1396-18dup	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629396_10629397dup	(Likely) benign	1 lab	0ab22060ab
6:123673686 TRDN T>C	6	123673686	123673686	T	C	TRDN	c.1367A>G	NM_006073.4	NP_006064.2:p.(Gln456Arg)	NC_000006.11:g.123673686T>C	(Likely) benign	1 lab	0abb1f4e3a
2:179583993 TTN A>G	2	179583993	179583993	A	G	TTN	c.24124T>C	NM_001267550.2	NP_001254479.2:p.(Leu8042=)	NC_000002.11:g.179583993A>G	(Likely) benign	1 lab	0abe0299f2
6:32010843 TNXB C>T	6	32010843	32010843	C	T	TNXB	c.11804G>A	NM_019105.8	NP_061978.6:p.(Arg3935Gln)	NC_000006.11:g.32010843C>T	(Likely) benign	1 lab	0ac146a918
22:38565313 PLA2G6 C>G	22	38565313	38565313	C	G	PLA2G6	c.121G>C	NM_003560.4	NP_003551.2:p.(Glu41Gln)	NC_000022.10:g.38565313C>G	VUS	1 lab	0ac9821409
2:238451314 MLPH G>GA	2	238451314	238451315	G	GA	MLPH	c.1539+12_1539+13insA	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238451314_238451315insA	(Likely) benign	1 lab	0acc76aeb1
5:148422309 SH3TC2 A>T	5	148422309	148422309	A	T	SH3TC2	c.477T>A	NM_024577.4	NP_078853.2:p.(Ser159=)	NC_000005.9:g.148422309A>T	(Likely) benign	1 lab	0ad0fc6025
12:110771792 ATP2A2 C>T	12	110771792	110771792	C	T	ATP2A2	c.1288-25C>T	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110771792C>T	(Likely) benign	1 lab	0ad23775d1
15:63340937 TPM1 C>T	15	63340937	63340937	C	T	TPM1	c.240+4586C>T	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63340937C>T	(Likely) benign	1 lab	0ad3639917
18:35224728 MISSING A>Alt too long to show for this DUP	18	35224728	35331273	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.35224729_35331273dup	VUS	1 lab	0ad9ad5be4
10:91007327 LIPA T>C	10	91007327	91007327	T	C	LIPA	c.79A>G	NM_000235.4	NP_000226.2:p.(Thr27Ala)	NC_000010.10:g.91007327T>C	VUS	1 lab	0add48895f
2:179395298 TTN G>A	2	179395298	179395298	G	A	TTN	c.106044C>T	NM_001267550.2	NP_001254479.2:p.(Asn35348=)	NC_000002.11:g.179395298G>A	(Likely) benign	1 lab	0addc86e37
19:11233961 LDLR G>A	19	11233961	11233961	G	A	LDLR	c.2252G>A	NM_000527.5	NP_000518.1:p.(Arg751Gln)	NC_000019.9:g.11233961G>A	(Likely) benign	1 lab	0ae7e6c872
12:57940858 DCTN2 G>A	12	57940858	57940858	G	A	DCTN2	c.-12C>T	NM_001261412.2	NP_001248341.1:p.?	NC_000012.11:g.57940858G>A	(Likely) benign	1 lab	0ae809b540
2:189869207 COL3A1 A>AT	2	189869207	189869216	A	AT	COL3A1	c.2931+126dup	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189869216dup	(Likely) benign	1 lab	0aecd0a9e5
17:75489216 SEPTIN9 C>T	17	75489216	75489216	C	T	SEPTIN9	c.1519+58C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489216C>T	(Likely) benign	1 lab	0af0affd0c
6:119137029 MCM9 A>G	6	119137029	119137029	A	G	MCM9	c.2390T>C	NM_017696.3	NP_060166.2:p.(Ile797Thr)	NC_000006.11:g.119137029A>G	VUS	1 lab	0af16adcbd
14:23854115 MYH6 G>A	14	23854115	23854115	G	A	MYH6	c.5289+10C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23854115G>A	(Likely) benign	1 lab	0af4e5b91b
12:2794932 CACNA1C A>G	12	2794932	2794932	A	G	CACNA1C	c.5853A>G	NM_199460.4	NP_955630.3:p.(Gln1951=)	NC_000012.11:g.2794932A>G	(Likely) benign	1 lab	0af7c432b7
16:56996649 CETP C>A	16	56996649	56996649	C	A	CETP	c.119-273C>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996649C>A	(Likely) benign	1 lab	0afadecf00
9:35091692 PIGO C>CG	9	35091692	35091699	C	CG	PIGO	c.2191dup	NM_032634.4	NP_116023.2:p.(Arg731ProfsTer62)	NC_000009.11:g.35091699dup	(Likely) pathogenic	1 lab	0afb55c079
12:33049680 PKP2 C>A	12	33049680	33049680	C	A	PKP2	c.-15G>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33049680C>A	(Likely) benign	1 lab	0afc3ea191
3:37070265 MLH1 T>G	3	37070265	37070265	T	G	MLH1	c.1410-10T>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37070265T>G	(Likely) benign	1 lab	0affb5cabe
1:173799885 DARS2 G>C	1	173799885	173799885	G	C	DARS2	c.382G>C	NM_018122.5	NP_060592.2:p.(Gly128Arg)	NC_000001.10:g.173799885G>C	(Likely) pathogenic	1 lab	0b03909537
10:85968099 CDHR1 G>A	10	85968099	85968099	G	A	CDHR1	c.1133G>A	NM_033100.4	NP_149091.1:p.(Arg378Gln)	NC_000010.10:g.85968099G>A	VUS	1 lab	0b041ba36e
16:16272751 ABCC6 C>T	16	16272751	16272751	C	T	ABCC6	c.1977G>A	NM_001351800.1	NP_001338729.1:p.(Val659=)	NC_000016.9:g.16272751C>T	(Likely) benign	1 lab	0b084b2d47
6:17633077 NUP153 T>TA	6	17633077	17633094	T	TA	NUP153	c.2558-3dup	NM_001278209.2	NP_001265138.1:p.?	NC_000006.11:g.17633094dup	(Likely) benign	1 lab	0b08f4f1cf
1:240371250 FMN2 A>T	1	240371250	240371250	A	T	FMN2	c.3150A>T	NM_001305424.2	NP_001292353.1:p.(Pro1050=)	NC_000001.10:g.240371250A>T	(Likely) benign	1 lab	0b0a60f3cd
11:66466523 SPTBN2 T>C	11	66466523	66466523	T	C	SPTBN2	c.3807A>G	NM_006946.4	NP_008877.2:p.(Gln1269=)	NC_000011.9:g.66466523T>C	(Likely) benign	1 lab	0b0dd63672
2:238283174 COL6A3 G>A	2	238283174	238283174	G	A	COL6A3	c.3560C>T	NM_004369.4	NP_004360.2:p.(Ala1187Val)	NC_000002.11:g.238283174G>A	VUS	1 lab	0b0fa4a1f9
16:919596 LMF1 G>T	16	919596	919596	G	T	LMF1	c.1017+287C>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919596G>T	(Likely) benign	1 lab	0b12e1cf1c
17:41234489 BRCA1 G>A	17	41234489	41234489	G	A	BRCA1	c.4289C>T	NM_007294.4	NP_009225.1:p.(Pro1430Leu)	NC_000017.10:g.41234489G>A	(Likely) benign	1 lab	0b173f3581
X:70443814 GJB1 C>A	X	70443814	70443814	C	A	GJB1	c.257C>A	NM_000166.6	NP_000157.1:p.(Thr86Asn)	NC_000023.10:g.70443814C>A	(Likely) pathogenic	1 lab	0b1ffee22a
18:29126107 DSG2 G>A	18	29126107	29126107	G	A	DSG2	c.2758G>A	NM_001943.5	NP_001934.2:p.(Val920Ile)	NC_000018.9:g.29126107G>A	VUS	1 lab	0b21e29b82
12:112920725 PTPN11 T>Alt too long to show for this DUP	12	112920725	112941612	T	Alt too long to show for this DUP	PTPN11	c.1224+718_1713-887dup	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112920727_112941612dup	VUS	1 lab	0b2436c21a
2:108614456 SLC5A7 C>A	2	108614456	108614456	C	A	SLC5A7	c.597+14C>A	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108614456C>A	(Likely) benign	1 lab	0b277928e0
6:32632601 HLA-DQB1 G>T	6	32632601	32632601	G	T	HLA-DQB1	c.353C>A	NM_001243961.2	NP_001230890.1:p.(Ala118Glu)	NC_000006.11:g.32632601G>T	(Likely) benign	1 lab	0b27edec66
19:38993586 RYR1 C>A	19	38993586	38993586	C	A	RYR1	c.7902C>A	NM_000540.3	NP_000531.2:p.(Asn2634Lys)	NC_000019.9:g.38993586C>A	VUS	1 lab	0b2a3929d5
1:103380379 COL11A1 TA>T	1	103380379	103380392	TA	T	COL11A1	c.3853-13del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103380392del	(Likely) benign	1 lab	0b2ce1a298
1:213032169 FLVCR1 G>C	1	213032169	213032169	G	C	FLVCR1	c.375G>C	NM_014053.4	NP_054772.1:p.(Trp125Cys)	NC_000001.10:g.213032169G>C	VUS	1 lab	0b2d3933f0
9:107578543 ABCA1 C>T	9	107578543	107578543	C	T	ABCA1	c.3619G>A	NM_005502.4	NP_005493.2:p.(Val1207Met)	NC_000009.11:g.107578543C>T	(Likely) benign	1 lab	0b2e937411
13:20381469 MISSING Ref too long to show for this DEL>T	13	20381469	20540566	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.20381470_20540566del	(Likely) pathogenic	1 lab	0b3114b0eb
X:13745554 MISSING A>Alt too long to show for this DUP	X	13745554	13890602	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13745558_13890602dup	VUS	1 lab	0b315037e2
3:176756126 TBL1XR1 GGTCT>G	3	176756126	176756134	GGTCT	G	TBL1XR1	c.1018_1021del	NM_001321194.3	NP_001308123.1:p.(Arg340LeufsTer12)	NC_000003.11:g.176756131_176756134del	(Likely) pathogenic	1 lab	0b31715854
6:45497222 RUNX2 G>Alt too long to show for this DUP	6	45497222	45512171	G	Alt too long to show for this DUP	RUNX2	c.1022-15731_1022-783dup	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45497223_45512171dup	VUS	1 lab	0b31ac0b6c
2:97377732 LMAN2L TCA>T	2	97377732	97377735	TCA	T	LMAN2L	c.569_570del	NM_001142292.2	NP_001135764.1:p.(Val190GlufsTer8)	NC_000002.11:g.97377734_97377735del	VUS	1 lab	0b339b68c8
9:79952467 VPS13A G>T	9	79952467	79952467	G	T	VPS13A	c.6378+14G>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79952467G>T	(Likely) benign	1 lab	0b356d00a0
17:36483583 GPR179 C>T	17	36483583	36483583	C	T	GPR179	c.5869G>A	NM_001004334.4	NP_001004334.3:p.(Val1957Ile)	NC_000017.10:g.36483583C>T	VUS	1 lab	0b357c121f
20:79978 MISSING Ref too long to show for this DEL>A	20	79978	488258	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.79980_488258del	(Likely) pathogenic	1 lab	0b363ab47f
9:107589744 ABCA1 C>T	9	107589744	107589744	C	T	ABCA1	c.2116-294G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589744C>T	(Likely) benign	1 lab	0b390bd673
9:133931620 MISSING A>Alt too long to show for this DUP	9	133931620	134634038	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.133931621_134634038dup	VUS	1 lab	0b394ddc13
7:128487176 FLNC C>A	7	128487176	128487176	C	A	FLNC	c.4288+217C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487176C>A	(Likely) benign	1 lab	0b3c6af6c2
16:85236 MISSING Ref too long to show for this DEL>C	16	85236	775853	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.85237_775853del	(Likely) pathogenic	1 lab	0b40445c44
12:124366150 DNAH10 CT>C	12	124366150	124366163	CT	C	DNAH10	c.8281-9del	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124366163del	(Likely) benign	1 lab	0b45639547
2:179419246 TTN C>T	2	179419246	179419246	C	T	TTN	c.88828G>A	NM_001267550.2	NP_001254479.2:p.(Ala29610Thr)	NC_000002.11:g.179419246C>T	VUS	1 lab	0b45db5359
10:18550254 CACNB2 T>G	10	18550254	18550254	T	G	CACNB2	c.48+8T>G	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18550254T>G	(Likely) benign	1 lab	0b4639d6a7
7:100636082 MUC12 G>A	7	100636082	100636082	G	A	MUC12	c.2238G>A	NM_001164462.1	NP_001157934.1:p.(Pro746=)	NC_000007.13:g.100636082G>A	(Likely) benign	1 lab	0b48597931
2:88084661 RGPD2 T>A	2	88084661	88084661	T	A	RGPD2	c.2609A>T	NM_001078170.2	NP_001071638.2:p.(Tyr870Phe)	NC_000002.11:g.88084661T>A	(Likely) benign	1 lab	0b4de3658e
19:11135015 SMARCA4 C>T	19	11135015	11135015	C	T	SMARCA4	c.2982C>T	NM_001128844.3	NP_001122316.1:p.(Tyr994=)	NC_000019.9:g.11135015C>T	(Likely) benign	1 lab	0b4f90b0cb
1:66074586 LEPR T>C	1	66074586	66074586	T	C	LEPR	c.1752+2T>C	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66074586T>C	(Likely) pathogenic	1 lab	0b50304e16
4:190878662 FRG1 T>C	4	190878662	190878662	T	C	FRG1	c.537+5T>C	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190878662T>C	(Likely) benign	1 lab	0b5c8cbe4f
9:107557177 ABCA1 T>C	9	107557177	107557177	T	C	ABCA1	c.5383-386A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107557177T>C	(Likely) benign	1 lab	0b5d029e86
16:77225112 MISSING G>Alt too long to show for this DUP	16	77225112	77315305	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.77225114_77315305dup	VUS	1 lab	0b5eb8261a
6:152630946 SYNE1 C>T	6	152630946	152630946	C	T	SYNE1	c.17202+24G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152630946C>T	(Likely) benign	1 lab	0b5eddacb4
2:179582716 TTN G>T	2	179582716	179582716	G	T	TTN	c.25017C>A	NM_001267550.2	NP_001254479.2:p.(Asp8339Glu)	NC_000002.11:g.179582716G>T	VUS	1 lab	0b5f26574d
9:87635198 NTRK2 C>G	9	87635198	87635198	C	G	NTRK2	c.2250C>G	NM_006180.6	NP_006171.2:p.(Ser750Arg)	NC_000009.11:g.87635198C>G	VUS	1 lab	0b5fad648d
6:64436507 EYS TGAAAG>T	6	64436507	64436515	TGAAAG	T	EYS	c.8196_8200del	NM_001292009.2	NP_001278938.1:p.(Phe2733CysfsTer33)	NC_000006.11:g.64436511_64436515del	(Likely) pathogenic	1 lab	0b6070a610
11:47371488 MYBPC3 G>GA	11	47371488	47371489	G	GA	MYBPC3	c.506-16_506-15insT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371488_47371489insA	(Likely) benign	1 lab	0b60f70cab
6:56420548 DST G>T	6	56420548	56420548	G	T	DST	c.8374C>A	NM_001144769.5	NP_001138241.1:p.(Pro2792Thr)	NC_000006.11:g.56420548G>T	VUS	1 lab	0b61867e4d
X:135956408 RBMX A>G	X	135956408	135956408	A	G	RBMX	c.1069T>C	NM_002139.4	NP_002130.2:p.(Tyr357His)	NC_000023.10:g.135956408A>G	(Likely) benign	1 lab	0b63151dfa
15:40280226 EIF2AK4 C>T	15	40280226	40280226	C	T	EIF2AK4	c.2446C>T	NM_001013703.4	NP_001013725.2:p.(Gln816Ter)	NC_000015.9:g.40280226C>T	(Likely) pathogenic	1 lab	0b656a1260
19:11234086 LDLR AT>A	19	11234086	11234090	AT	A	LDLR	c.2311+70del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234090del	(Likely) benign	1 lab	0b665b5c9c
7:100855952 PLOD3 C>T	7	100855952	100855952	C	T	PLOD3	c.880-16G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855952C>T	(Likely) benign	1 lab	0b66627c7c
1:161277089 MPZ T>C	1	161277089	161277089	T	C	MPZ	c.193A>G	NM_000530.8	NP_000521.2:p.(Thr65Ala)	NC_000001.10:g.161277089T>C	(Likely) pathogenic	1 lab	0b688fffb8
4:114170977 ANK2 C>A	4	114170977	114170977	C	A	ANK2	c.949C>A	NM_001148.6	NP_001139.3:p.(Leu317Ile)	NC_000004.11:g.114170977C>A	VUS	1 lab	0b69df8c63
16:89986058 MC1R G>A	16	89986058	89986058	G	A	MC1R	c.392G>A	NM_002386.4	NP_002377.4:p.(Ser131Asn)	NC_000016.9:g.89986058G>A	VUS	1 lab	0b6bd7db92
12:7521563 CD163L1 TGA>T	12	7521563	7521587	TGA	T	CD163L1	c.4040-4_4040-3del	NM_174941.6	NP_777601.3:p.?	NC_000012.11:g.7521586_7521587del	(Likely) benign	1 lab	0b6cfd3c6e
2:44104788 ABCG8 G>C	2	44104788	44104788	G	C	ABCG8	c.1845G>C	NM_022437.3	NP_071882.1:p.(Met615Ile)	NC_000002.11:g.44104788G>C	VUS	1 lab	0b6d04b33e
18:21124907 NPC1 A>ACCCCT	18	21124907	21124912	A	ACCCCT	NPC1	c.1947+16_1947+17insAGGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124911_21124912insTCCCC	(Likely) benign	1 lab	0b6e0d27ba
16:56532462 BBS2 G>A	16	56532462	56532462	G	A	BBS2	c.1546C>T	NM_031885.5	NP_114091.4:p.(Gln516Ter)	NC_000016.9:g.56532462G>A	(Likely) pathogenic	1 lab	0b722cafac
17:36499622 GPR179 G>A	17	36499622	36499622	G	A	GPR179	c.51C>T	NM_001004334.4	NP_001004334.3:p.(Gly17=)	NC_000017.10:g.36499622G>A	(Likely) benign	1 lab	0b7727a203
16:88495163 ZNF469 G>A	16	88495163	88495163	G	A	ZNF469	c.1285G>A	NM_001367624.2	NP_001354553.1:p.(Ala429Thr)	NC_000016.9:g.88495163G>A	(Likely) benign	1 lab	0b7744e1d0
11:71942104 INPPL1 C>T	11	71942104	71942104	C	T	INPPL1	c.1368C>T	NM_001567.4	NP_001558.3:p.(Asp456=)	NC_000011.9:g.71942104C>T	(Likely) benign	1 lab	0b7a731a77
7:30639570 GARS1 C>T	7	30639570	30639570	C	T	GARS1	c.332C>T	NM_002047.4	NP_002038.2:p.(Ala111Val)	NC_000007.13:g.30639570C>T	(Likely) pathogenic	1 lab	0b7a95b4bd
9:107560895 ABCA1 G>A	9	107560895	107560895	G	A	ABCA1	c.4944-16C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107560895G>A	(Likely) benign	1 lab	0b7ba106c9
10:88477741 LDB3 T>G	10	88477741	88477741	T	G	LDB3	c.1712T>G	NM_001171610.2	NP_001165081.1:p.(Met571Arg)	NC_000010.10:g.88477741T>G	(Likely) benign	1 lab	0b7ce137e2
2:179428799 TTN C>T	2	179428799	179428799	C	T	TTN	c.82060G>A	NM_001267550.2	NP_001254479.2:p.(Val27354Ile)	NC_000002.11:g.179428799C>T	VUS	1 lab	0b7dd398b1
3:123337117 MYLK T>G	3	123337117	123337117	T	G	MYLK	c.5500+369A>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123337117T>G	(Likely) benign	1 lab	0b8390db7b
12:124332641 DNAH10 G>A	12	124332641	124332641	G	A	DNAH10	c.5594G>A	NM_207437.3	NP_997320.2:p.(Arg1865Lys)	NC_000012.11:g.124332641G>A	(Likely) benign	1 lab	0b83a9c761
3:11731825 MISSING A>Alt too long to show for this DUP	3	11731825	11885699	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.11731827_11885699dup	VUS	1 lab	0bfb8a113b
1:55523894 PCSK9 G>A	1	55523894	55523894	G	A	PCSK9	c.1354+12G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523894G>A	(Likely) benign	1 lab	0b8557d391
9:107599855 ABCA1 A>G	9	107599855	107599855	A	G	ABCA1	c.1055-7T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599855A>G	(Likely) benign	1 lab	0b886e00e7
10:92677536 ANKRD1 C>A	10	92677536	92677536	C	A	ANKRD1	c.505G>T	NM_014391.3	NP_055206.2:p.(Val169Leu)	NC_000010.10:g.92677536C>A	VUS	1 lab	0b89127b28
10:50732674 ERCC6 C>T	10	50732674	50732674	C	T	ERCC6	c.802G>A	NM_001346440.2	NP_001333369.1:p.(Ala268Thr)	NC_000010.10:g.50732674C>T	VUS	1 lab	0b8a023955
4:9251815 USP17L18 T>A	4	9251815	9251815	T	A	USP17L18	c.1460T>A	NM_001256859.1	NP_001243788.1:p.(Leu487Gln)	NC_000004.11:g.9251815T>A	(Likely) benign	1 lab	0b8a5642ba
14:61446607 TRMT5 T>TA	14	61446607	61446625	T	TA	TRMT5	c.96-4dup	NM_001350253.1	NP_001337182.1:p.?	NC_000014.8:g.61446625dup	(Likely) benign	1 lab	0b8a7a4adc
2:21259849 APOB G>C	2	21259849	21259849	G	C	APOB	c.693+123C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21259849G>C	(Likely) benign	1 lab	0b8b559a9d
11:47366547 MYBPC3 G>T	11	47366547	47366547	G	T	MYBPC3	c.1090+1211C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366547G>T	(Likely) benign	1 lab	0b8d6bb61b
2:179457380 TTN A>G	2	179457380	179457380	A	G	TTN	c.59352T>C	NM_001267550.2	NP_001254479.2:p.(Pro19784=)	NC_000002.11:g.179457380A>G	(Likely) benign	1 lab	0b8ecaa1c9
6:56482826 DST G>A	6	56482826	56482826	G	A	DST	c.6006C>T	NM_001723.7	NP_001714.1:p.(Asn2002=)	NC_000006.11:g.56482826G>A	(Likely) benign	1 lab	0b910d1afe
19:11231083 LDLR CG>C	19	11231083	11231085	CG	C	LDLR	c.2027del	NM_000527.5	NP_000518.1:p.(Gly676AlafsTer33)	NC_000019.9:g.11231085del	(Likely) pathogenic	1 lab	0b92a1f46c
5:127636598 FBN2 G>A	5	127636598	127636598	G	A	FBN2	c.6077C>T	NM_001999.4	NP_001990.2:p.(Ser2026Phe)	NC_000005.9:g.127636598G>A	VUS	1 lab	0b954e187b
11:47356941 MYBPC3 T>C	11	47356941	47356941	T	C	MYBPC3	c.2738-181A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356941T>C	(Likely) benign	1 lab	0b9619beda
2:179430593 TTN T>C	2	179430593	179430593	T	C	TTN	c.80266A>G	NM_001267550.2	NP_001254479.2:p.(Arg26756Gly)	NC_000002.11:g.179430593T>C	VUS	1 lab	0b970a1ed0
12:21369985 SLCO1B1 G>A	12	21369985	21369985	G	A	SLCO1B1	c.1498-68G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21369985G>A	(Likely) benign	1 lab	0b985af1e3
10:92680743 ANKRD1 A>G	10	92680743	92680743	A	G	ANKRD1	c.27+15T>C	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680743A>G	(Likely) benign	1 lab	0b9861b77c
9:137713929 COL5A1 C>A	9	137713929	137713929	C	A	COL5A1	c.4555-14C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137713929C>A	(Likely) benign	1 lab	0b9981d91a
2:44040320 ABCG5 T>A	2	44040320	44040320	T	A	ABCG5	c.1891A>T	NM_022436.3	NP_071881.1:p.(Ile631Phe)	NC_000002.11:g.44040320T>A	VUS	1 lab	0b9c8484aa
16:15872264 MYH11 T>C	16	15872264	15872264	T	C	MYH11	c.811+373A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15872264T>C	(Likely) benign	1 lab	0b9e2c4724
10:131757261 EBF3 T>C	10	131757261	131757261	T	C	EBF3	c.422A>G	NM_001005463.3	NP_001005463.1:p.(Tyr141Cys)	NC_000010.10:g.131757261T>C	(Likely) pathogenic	1 lab	0b9e2c8fa2
12:48393748 COL2A1 G>A	12	48393748	48393748	G	A	COL2A1	c.246C>T	NM_001844.5	NP_001835.3:p.(Phe82=)	NC_000012.11:g.48393748G>A	(Likely) benign	1 lab	0b9e408b18
12:112889590 PTPN11 Ref too long to show for this DEL>A	12	112889590	112894110	Ref too long to show for this DEL	A	PTPN11	c.332+1275_756+243del	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112889591_112894110del	VUS	1 lab	0ba19b308e
6:100895179 SIM1 C>A	6	100895179	100895179	C	A	SIM1	c.963G>T	NM_005068.3	NP_005059.2:p.(Arg321Ser)	NC_000006.11:g.100895179C>A	VUS	1 lab	0ba1fbc1a7
2:44066178 ABCG8 A>C	2	44066178	44066178	A	C	ABCG8	c.-15A>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066178A>C	(Likely) benign	1 lab	0ba2c2d7cb
13:49034022 RB1 A>ATTCT	13	49034022	49034088	A	ATTCT	RB1	c.2106+116_2106+119dup	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49034085_49034088dup	(Likely) benign	1 lab	0ba2cb89cb
1:155646489 YY1AP1 C>T	1	155646489	155646489	C	T	YY1AP1	c.588G>A	NM_001198903.1	NP_001185832.1:p.(Ala196=)	NC_000001.10:g.155646489C>T	(Likely) benign	1 lab	0ba30da7d1
7:94054370 COL1A2 G>A	7	94054370	94054370	G	A	COL1A2	c.2674-59G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94054370G>A	(Likely) benign	1 lab	0ba36dd37b
19:11216218 LDLR C>T	19	11216218	11216218	C	T	LDLR	c.636C>T	NM_000527.5	NP_000518.1:p.(Ser212=)	NC_000019.9:g.11216218C>T	(Likely) benign	1 lab	0ba5192f4d
2:97845609 ANKRD36 C>T	2	97845609	97845609	C	T	ANKRD36	c.1674C>T	NM_001354587.1	NP_001341516.1:p.(Asp558=)	NC_000002.11:g.97845609C>T	(Likely) benign	1 lab	0ba59afedf
18:25543387 CDH2 G>A	18	25543387	25543387	G	A	CDH2	c.2448C>T	NM_001792.5	NP_001783.2:p.(Ala816=)	NC_000018.9:g.25543387G>A	(Likely) benign	1 lab	0ba8400b5c
10:73579217 PSAP C>T	10	73579217	73579217	C	T	PSAP	c.1359+5G>A	NM_001042465.3	NP_001035930.1:p.?	NC_000010.10:g.73579217C>T	(Likely) benign	1 lab	0bab47d2b1
3:57827071 SLMAP A>G	3	57827071	57827071	A	G	SLMAP	c.392A>G	NM_001304420.3	NP_001291349.1:p.(Asp131Gly)	NC_000003.11:g.57827071A>G	VUS	1 lab	0baea138aa
1:156105054 LMNA G>A	1	156105054	156105054	G	A	LMNA	c.887G>A	NM_170707.4	NP_733821.1:p.(Arg296His)	NC_000001.10:g.156105054G>A	VUS	1 lab	0bb3f43bad
2:179635358 TTN T>C	2	179635358	179635358	T	C	TTN	c.8161A>G	NM_001267550.2	NP_001254479.2:p.(Thr2721Ala)	NC_000002.11:g.179635358T>C	VUS	1 lab	0bb48f4058
7:92762681 SAMD9L A>G	7	92762681	92762681	A	G	SAMD9L	c.2604T>C	NM_152703.5	NP_689916.2:p.(Ala868=)	NC_000007.13:g.92762681A>G	(Likely) benign	1 lab	0bb5e1c4bb
10:75871763 VCL G>T	10	75871763	75871763	G	T	VCL	c.2842G>T	NM_014000.3	NP_054706.1:p.(Asp948Tyr)	NC_000010.10:g.75871763G>T	VUS	1 lab	0bb6052410
9:135140221 SETX G>A	9	135140221	135140221	G	A	SETX	c.7439C>T	NM_001351527.2	NP_001338456.1:p.(Ala2480Val)	NC_000009.11:g.135140221G>A	(Likely) benign	1 lab	0bb611e9d4
12:970413 WNK1 A>G	12	970413	970413	A	G	WNK1	c.1855A>G	NM_001184985.2	NP_001171914.1:p.(Thr619Ala)	NC_000012.11:g.970413A>G	VUS	1 lab	0bb85af72e
9:101890898 TGFBR1 A>G	9	101890898	101890898	A	G	TGFBR1	c.98-239A>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101890898A>G	(Likely) benign	1 lab	0bbb7a64c3
10:8034612 MISSING Ref too long to show for this DEL>T	10	8034612	8116684	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.8034613_8116684del	(Likely) pathogenic	1 lab	0bbe59229c
19:17691655 COLGALT1 G>A	19	17691655	17691655	G	A	COLGALT1	c.1542G>A	NM_024656.4	NP_078932.2:p.(Pro514=)	NC_000019.9:g.17691655G>A	(Likely) benign	1 lab	0bbfd4f202
1:74818952 TNNI3K C>G	1	74818952	74818952	C	G	TNNI3K	c.935C>G	NM_015978.3	NP_057062.1:p.(Ala312Gly)	NC_000001.10:g.74818952C>G	VUS	1 lab	0bc21be955
5:133942739 SAR1B T>G	5	133942739	133942739	T	G	SAR1B	c.498A>C	NM_001033503.3	NP_001028675.1:p.(Lys166Asn)	NC_000005.9:g.133942739T>G	VUS	1 lab	0bca71051d
3:50229208 GNAT1 AG>A	3	50229208	50229209	AG	A	GNAT1	c.51del	NM_144499.3	NP_653082.1:p.(Lys18SerfsTer2)	NC_000003.11:g.50229209del	(Likely) pathogenic	1 lab	0bcbfd454e
14:20522176 MISSING C>Alt too long to show for this DUP	14	20522176	20539351	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.20522178_20539351dup	(Likely) benign	1 lab	0bce752cbf
19:45411165 APOE G>C	19	45411165	45411165	G	C	APOE	c.270G>C	NM_001302688.2	NP_001289617.1:p.(Gln90His)	NC_000019.9:g.45411165G>C	VUS	1 lab	0bd13b972b
18:34289317 FHOD3 G>A	18	34289317	34289317	G	A	FHOD3	c.2496G>A	NM_001281740.3	NP_001268669.1:p.(Glu832=)	NC_000018.9:g.34289317G>A	(Likely) benign	1 lab	0bd8fe6bc6
6:32017035 TNXB C>T	6	32017035	32017035	C	T	TNXB	c.9751+12G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32017035C>T	(Likely) benign	1 lab	0bdb5463f4
8:67651919 MISSING Ref too long to show for this DEL>C	8	67651919	68161689	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.67651923_68161689del	(Likely) pathogenic	1 lab	0bdfdd57c9
4:92650798 MISSING Ref too long to show for this DEL>A	4	92650798	93270532	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.92650799_93270532del	VUS	1 lab	0be7af0726
15:89754025 RLBP1 G>A	15	89754025	89754025	G	A	RLBP1	c.700C>T	NM_000326.5	NP_000317.1:p.(Arg234Trp)	NC_000015.9:g.89754025G>A	(Likely) pathogenic	1 lab	0be9f2f909
5:90079671 ADGRV1 A>G	5	90079671	90079671	A	G	ADGRV1	c.13450A>G	NM_032119.4	NP_115495.3:p.(Ile4484Val)	NC_000005.9:g.90079671A>G	(Likely) benign	1 lab	0bedc75fad
2:179421609 TTN-AS1 C>T	2	179421609	179421609	C	T	TTN-AS1	n.2043+14521C>T	NR_038272.1		NC_000002.11:g.179421609C>T	(Likely) benign	1 lab	0bef400939
16:16315428 ABCC6 A>G	16	16315428	16315428	A	G	ABCC6	c.297T>C	NM_001079528.4	NP_001072996.1:p.(Ser99=)	NC_000016.9:g.16315428A>G	(Likely) benign	1 lab	0bf2313f83
6:75828913 COL12A1 T>C	6	75828913	75828913	T	C	COL12A1	c.7211-11A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75828913T>C	(Likely) benign	1 lab	0bf29a1010
5:178514049 MISSING A>Alt too long to show for this DUP	5	178514049	179061568	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.178514050_179061568dup	VUS	1 lab	0bf2ce3c86
19:11223663 LDLR CTTTT>C	19	11223663	11223685	CTTTT	C	LDLR	c.1187-272_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223682_11223685del	(Likely) benign	1 lab	0bf32db4a8
19:11227675 LDLR G>T	19	11227675	11227675	G	T	LDLR	c.1845+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227675G>T	(Likely) pathogenic	1 lab	0bf46b061b
10:48389677 RBP3 G>T	10	48389677	48389677	G	T	RBP3	c.1201C>A	NM_002900.3	NP_002891.1:p.(Pro401Thr)	NC_000010.10:g.48389677G>T	(Likely) benign	1 lab	0bf5af8625
3:151126832 MED12L Ref too long to show for this DEL>G	3	151126832	151141270	Ref too long to show for this DEL	G	MED12L	c.5821-198_6409-6817del	NM_001393769.1	NP_001380698.1:p.?	NC_000003.11:g.151126833_151141270del	VUS	1 lab	0bf8554f95
16:87393895 FBXO31 A>C	16	87393895	87393895	A	C	FBXO31	c.412+6T>G	NM_024735.5	NP_079011.3:p.?	NC_000016.9:g.87393895A>C	VUS	1 lab	0bf9fc194b
9:107571825 ABCA1 G>A	9	107571825	107571825	G	A	ABCA1	c.4196C>T	NM_005502.4	NP_005493.2:p.(Thr1399Met)	NC_000009.11:g.107571825G>A	VUS	1 lab	0bff3e9b39
8:94767279 TMEM67 C>A	8	94767279	94767279	C	A	TMEM67	c.137C>A	NM_153704.6	NP_714915.3:p.(Pro46Gln)	NC_000008.10:g.94767279C>A	VUS	1 lab	0c00f062a2
2:97845616 ANKRD36 G>T	2	97845616	97845616	G	T	ANKRD36	c.1681G>T	NM_001354587.1	NP_001341516.1:p.(Asp561Tyr)	NC_000002.11:g.97845616G>T	(Likely) benign	1 lab	0c03b31a93
9:131696769 MISSING Ref too long to show for this DEL>T	9	131696769	131707926	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.131696770_131707926del	VUS	1 lab	0c052f55ba
6:7583830 DSP A>G	6	7583830	7583830	A	G	DSP	c.6335A>G	NM_004415.4	NP_004406.2:p.(Lys2112Arg)	NC_000006.11:g.7583830A>G	VUS	1 lab	0c06af8668
7:127894684 LEP C>T	7	127894684	127894684	C	T	LEP	c.372C>T	NM_000230.3	NP_000221.1:p.(Gly124=)	NC_000007.13:g.127894684C>T	(Likely) benign	1 lab	0c0c9d21e0
14:77987800 SPTLC2 A>C	14	77987800	77987800	A	C	SPTLC2	c.1428T>G	NM_004863.4	NP_004854.1:p.(Pro476=)	NC_000014.8:g.77987800A>C	(Likely) benign	1 lab	0c0fcaeb17
15:67477126 SMAD3 C>T	15	67477126	67477126	C	T	SMAD3	c.933C>T	NM_005902.4	NP_005893.1:p.(Ser311=)	NC_000015.9:g.67477126C>T	(Likely) benign	1 lab	0c1105c44c
X:22187001 PHEX Ref too long to show for this DEL>G	X	22187001	22190851	Ref too long to show for this DEL	G	PHEX	c.1482+499_1482+4345del	NM_000444.6	NP_000435.3:p.?	NC_000023.10:g.22187005_22190851del	VUS	1 lab	0c130c373d
4:55961072 KDR A>C	4	55961072	55961072	A	C	KDR	c.2868T>G	NM_002253.3	NP_002244.1:p.(Pro956=)	NC_000004.11:g.55961072A>C	(Likely) benign	1 lab	0c13e321dd
19:11224347 LDLR T>C	19	11224347	11224347	T	C	LDLR	c.1495T>C	NM_000527.5	NP_000518.1:p.(Ser499Pro)	NC_000019.9:g.11224347T>C	(Likely) pathogenic	1 lab	0c15067242
11:61727485 BEST1 C>T	11	61727485	61727485	C	T	BEST1	c.98C>T	NM_001363593.2	NP_001350522.1:p.(Ala33Val)	NC_000011.9:g.61727485C>T	(Likely) benign	1 lab	0c1587c8c7
15:31329984 TRPM1 C>A	15	31329984	31329984	C	A	TRPM1	c.2552G>T	NM_001252020.2	NP_001238949.1:p.(Arg851Ile)	NC_000015.9:g.31329984C>A	VUS	1 lab	0c16b2ffd2
9:451975 DOCK8 ATATTTTTTT>A	9	451975	451985	ATATTTTTTT	A	DOCK8	c.5962-34_5962-26del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451977_451985del	(Likely) benign	1 lab	0c19b32e8d
3:48630625 COL7A1 C>T	3	48630625	48630625	C	T	COL7A1	c.592G>A	NM_000094.3	NP_000085.1:p.(Val198Ile)	NC_000003.11:g.48630625C>T	(Likely) benign	1 lab	0c1a3dd8ef
9:107587673 ABCA1 G>C	9	107587673	107587673	G	C	ABCA1	c.2542+291C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107587673G>C	(Likely) benign	1 lab	0c1a41349b
4:89319007 MISSING Ref too long to show for this DEL>C	4	89319007	89387592	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.89319011_89387592del	VUS	1 lab	0c1a9b19ba
2:1648407 PXDN G>T	2	1648407	1648407	G	T	PXDN	c.3726C>A	NM_012293.3	NP_036425.1:p.(Arg1242=)	NC_000002.11:g.1648407G>T	(Likely) benign	1 lab	0c1b906dfd
4:100522478 MTTP CTT>C	4	100522478	100522497	CTT	C	MTTP	c.1237-268_1237-267del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522496_100522497del	(Likely) benign	1 lab	0c1efaf35b
6:123850414 TRDN C>T	6	123850414	123850414	C	T	TRDN	c.*5G>A	NM_001256022.2	NP_001242951.1:p.?	NC_000006.11:g.123850414C>T	(Likely) benign	1 lab	0c2086d70a
2:44051255 ABCG5 C>G	2	44051255	44051255	C	G	ABCG5	c.1121G>C	NM_022436.3	NP_071881.1:p.(Arg374Thr)	NC_000002.11:g.44051255C>G	VUS	1 lab	0c21bd0e26
2:3721657 MISSING Ref too long to show for this DEL>T	2	3721657	3769005	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.3721659_3769005del	VUS	1 lab	0c23bb81b7
2:21251040 APOB T>G	2	21251040	21251040	T	G	APOB	c.1830-103A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21251040T>G	(Likely) benign	1 lab	0c24792d73
11:66529637 MISSING A>Alt too long to show for this DUP	11	66529637	67134924	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.66529640_67134924dup	VUS	1 lab	0c255e519a
16:1630833 IFT140 G>A	16	1630833	1630833	G	A	IFT140	c.1451C>T	NM_014714.4	NP_055529.2:p.(Thr484Met)	NC_000016.9:g.1630833G>A	(Likely) pathogenic	1 lab	0c271c1be4
8:19796777 LPL C>T	8	19796777	19796777	C	T	LPL	c.-175C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796777C>T	VUS	1 lab	0c27cec00b
11:63420035 ATL3 G>A	11	63420035	63420035	G	A	ATL3	c.418C>T	NM_015459.5	NP_056274.3:p.(Leu140=)	NC_000011.9:g.63420035G>A	(Likely) benign	1 lab	0c2873d381
1:66067289 LEPR A>G	1	66067289	66067289	A	G	LEPR	c.1209A>G	NM_002303.6	NP_002294.2:p.(Gly403=)	NC_000001.10:g.66067289A>G	(Likely) benign	1 lab	0c2934dfa8
18:47101898 LIPG A>G	18	47101898	47101898	A	G	LIPG	c.731A>G	NM_006033.4	NP_006024.1:p.(Asn244Ser)	NC_000018.9:g.47101898A>G	VUS	1 lab	0c2b4362bd
6:112522855 LAMA4 C>G	6	112522855	112522855	C	G	LAMA4	c.457G>C	NM_001105206.3	NP_001098676.2:p.(Val153Leu)	NC_000006.11:g.112522855C>G	VUS	1 lab	0c320ed822
17:45354631 ITGB3 A>Alt too long to show for this DUP	17	45354631	45416901	A	Alt too long to show for this DUP	ITGB3				NC_000017.10:g.45354632_45416901dup	VUS	1 lab	0c3318a53e
7:128415716 OPN1SW A>G	7	128415716	128415716	A	G	OPN1SW	c.120T>C	NM_001385125.1	NP_001372054.1:p.(Thr40=)	NC_000007.13:g.128415716A>G	(Likely) benign	1 lab	0c35e53a81
8:145621626 CPSF1 G>A	8	145621626	145621626	G	A	CPSF1	c.2916C>T	NM_013291.3	NP_037423.2:p.(Val972=)	NC_000008.10:g.145621626G>A	(Likely) benign	1 lab	0c3bba0c2c
11:89017956 TYR G>T	11	89017956	89017956	G	T	TYR	c.1200G>T	NM_000372.5	NP_000363.1:p.(Trp400Cys)	NC_000011.9:g.89017956G>T	(Likely) pathogenic	1 lab	0c44da6870
8:19820166 LPL A>C	8	19820166	19820166	A	C	LPL	c.1427+436A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19820166A>C	VUS	1 lab	0c45c862f1
1:47882611 FOXE3 G>C	1	47882611	47882611	G	C	FOXE3	c.624G>C	NM_012186.3	NP_036318.1:p.(Pro208=)	NC_000001.10:g.47882611G>C	(Likely) benign	1 lab	0c4e272bc2
17:36493055 GPR179 A>G	17	36493055	36493055	A	G	GPR179	c.1033T>C	NM_001004334.4	NP_001004334.3:p.(Phe345Leu)	NC_000017.10:g.36493055A>G	VUS	1 lab	0c4efb414e
5:82836889 VCAN G>A	5	82836889	82836889	G	A	VCAN	c.8067G>A	NM_004385.5	NP_004376.2:p.(Thr2689=)	NC_000005.9:g.82836889G>A	VUS	1 lab	0c4fac6e42
21:47531979 COL6A2 T>C	21	47531979	47531979	T	C	COL6A2	c.202T>C	NM_058175.3	NP_478055.2:p.(Phe68Leu)	NC_000021.8:g.47531979T>C	VUS	1 lab	0c4ff889f7
9:113233720 SVEP1 G>A	9	113233720	113233720	G	A	SVEP1	c.2922C>T	NM_153366.4	NP_699197.3:p.(Ala974=)	NC_000009.11:g.113233720G>A	(Likely) benign	1 lab	0c537e32e5
2:189945067 COL5A2 C>T	2	189945067	189945067	C	T	COL5A2	c.907-310G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189945067C>T	(Likely) benign	1 lab	0c575c8da0
17:46628553 HOXB3 A>AG	17	46628553	46628558	A	AG	HOXB3	c.449-11dup	NM_002146.4	NP_002137.4:p.?	NC_000017.10:g.46628558dup	(Likely) benign	1 lab	0c5a001621
17:48264866 COL1A1 G>A	17	48264866	48264866	G	A	COL1A1	c.3402C>T	NM_000088.4	NP_000079.2:p.(Ala1134=)	NC_000017.10:g.48264866G>A	(Likely) benign	1 lab	0c5a42adf4
9:107582212 ABCA1 C>G	9	107582212	107582212	C	G	ABCA1	c.3099G>C	NM_005502.4	NP_005493.2:p.(Leu1033=)	NC_000009.11:g.107582212C>G	(Likely) benign	1 lab	0c5ae7b3ff
5:178563002 ADAMTS2 C>T	5	178563002	178563002	C	T	ADAMTS2	c.1993G>A	NM_014244.5	NP_055059.2:p.(Gly665Arg)	NC_000005.9:g.178563002C>T	(Likely) benign	1 lab	0c5df69a55
2:179417562 TTN G>A	2	179417562	179417562	G	A	TTN	c.90065C>T	NM_001267550.2	NP_001254479.2:p.(Thr30022Ile)	NC_000002.11:g.179417562G>A	VUS	1 lab	0c5f0dfb85
8:144990480 PLEC G>A	8	144990480	144990480	G	A	PLEC	c.13920C>T	NM_201380.4	NP_958782.1:p.(Arg4640=)	NC_000008.10:g.144990480G>A	(Likely) benign	1 lab	0c5ffbc51a
8:75274214 GDAP1 G>A	8	75274214	75274214	G	A	GDAP1	c.579+1G>A	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75274214G>A	(Likely) pathogenic	1 lab	0c60576117
19:11217752 LDLR C>T	19	11217752	11217752	C	T	LDLR	c.818-316C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217752C>T	(Likely) benign	1 lab	0c6077d119
7:4734381 MISSING A>Alt too long to show for this DUP	7	4734381	5380743	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.4734384_5380743dup	VUS	1 lab	0c61984306
2:179402400 TTN C>A	2	179402400	179402400	C	A	TTN	c.99534G>T	NM_001267550.2	NP_001254479.2:p.(Glu33178Asp)	NC_000002.11:g.179402400C>A	VUS	1 lab	0c625fcfe6
11:47357986 MYBPC3 C>T	11	47357986	47357986	C	T	MYBPC3	c.2603-424G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357986C>T	VUS	1 lab	0c62a76f84
X:138623273 F9 G>A	X	138623273	138623273	G	A	F9	c.316G>A	NM_000133.4	NP_000124.1:p.(Gly106Ser)	NC_000023.10:g.138623273G>A	(Likely) pathogenic	1 lab	0c63aa4f09
2:179481863 TTN G>A	2	179481863	179481863	G	A	TTN	c.47859C>T	NM_001267550.2	NP_001254479.2:p.(Thr15953=)	NC_000002.11:g.179481863G>A	(Likely) benign	1 lab	0c641534e0
10:52751225 PRKG1 G>A	10	52751225	52751225	G	A	PRKG1	c.87G>A	NM_001098512.3	NP_001091982.1:p.(Lys29=)	NC_000010.10:g.52751225G>A	(Likely) benign	1 lab	0c67bb53fd
5:176942215 DDX41 G>C	5	176942215	176942215	G	C	DDX41	c.616C>G	NM_016222.4	NP_057306.2:p.(Pro206Ala)	NC_000005.9:g.176942215G>C	VUS	1 lab	0c6870c19d
19:55667552 TNNI3 T>A	19	55667552	55667552	T	A	TNNI3	c.282+17A>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667552T>A	(Likely) benign	1 lab	0c6f66e300
1:25890157 LDLRAP1 G>A	1	25890157	25890157	G	A	LDLRAP1	c.622G>A	NM_015627.3	NP_056442.2:p.(Ala208Thr)	NC_000001.10:g.25890157G>A	(Likely) benign	1 lab	0c75dae4b4
10:73578882 PSAP T>C	10	73578882	73578882	T	C	PSAP	c.1360-14A>G	NM_001042465.3	NP_001035930.1:p.?	NC_000010.10:g.73578882T>C	(Likely) benign	1 lab	0c78c4d273
17:78366131 MISSING Ref too long to show for this DEL>T	17	78366131	78398120	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.78366132_78398120del	VUS	1 lab	0c79489266
9:97869554 FANCC G>A	9	97869554	97869554	G	A	FANCC	c.1330-3C>T	NM_000136.3	NP_000127.2:p.?	NC_000009.11:g.97869554G>A	(Likely) benign	1 lab	0c79cede45
2:179605857 TTN T>C	2	179605857	179605857	T	C	TTN	c.12103A>G	NM_001267550.2	NP_001254479.2:p.(Met4035Val)	NC_000002.11:g.179605857T>C	VUS	1 lab	0c7e992598
1:173795839 DARS2 G>T	1	173795839	173795839	G	T	DARS2	c.142G>T	NM_018122.5	NP_060592.2:p.(Val48Phe)	NC_000001.10:g.173795839G>T	(Likely) benign	1 lab	0c81ecfa7c
2:179443353 TTN C>G	2	179443353	179443353	C	G	TTN	c.68314G>C	NM_001267550.2	NP_001254479.2:p.(Gly22772Arg)	NC_000002.11:g.179443353C>G	VUS	1 lab	0c8684b48a
16:84050254 SLC38A8 C>T	16	84050254	84050254	C	T	SLC38A8	c.1032G>A	NM_001080442.3	NP_001073911.1:p.(Leu344=)	NC_000016.9:g.84050254C>T	(Likely) benign	1 lab	0c8808fb0d
2:21246452 APOB G>A	2	21246452	21246452	G	A	APOB	c.2549C>T	NM_000384.3	NP_000375.3:p.(Ser850Leu)	NC_000002.11:g.21246452G>A	VUS	1 lab	17ade0a04d
1:103496806 COL11A1 A>G	1	103496806	103496806	A	G	COL11A1	c.652-6T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496806A>G	(Likely) benign	1 lab	0c8bc8aa8f
2:21234694 APOB C>G	2	21234694	21234694	C	G	APOB	c.5046G>C	NM_000384.3	NP_000375.3:p.(Met1682Ile)	NC_000002.11:g.21234694C>G	(Likely) benign	1 lab	0c8d0b95fc
1:179858470 TOR1AIP1 G>A	1	179858470	179858470	G	A	TOR1AIP1	c.579G>A	NM_001267578.2	NP_001254507.1:p.(Arg193=)	NC_000001.10:g.179858470G>A	(Likely) benign	1 lab	0c8f3f3793
10:100195074 HPS1 A>C	10	100195074	100195074	A	C	HPS1	c.353T>G	NM_001322477.2	NP_001309406.1:p.(Val118Gly)	NC_000010.10:g.100195074A>C	VUS	1 lab	0c9017e183
3:58154177 FLNB G>A	3	58154177	58154177	G	A	FLNB	c.7302G>A	NM_001164317.2	NP_001157789.1:p.(Ser2434=)	NC_000003.11:g.58154177G>A	(Likely) benign	1 lab	0c90d4baa8
9:33797992 PRSS3 C>T	9	33797992	33797992	C	T	PRSS3	c.408C>T	NM_001197097.3	NP_001184026.3:p.(Arg136=)	NC_000009.11:g.33797992C>T	(Likely) benign	1 lab	0c92713a73
2:62067419 FAM161A C>T	2	62067419	62067419	C	T	FAM161A	c.720G>A	NM_001201543.2	NP_001188472.1:p.(Glu240=)	NC_000002.11:g.62067419C>T	(Likely) benign	1 lab	0c9324daf9
14:78121097 MISSING A>Alt too long to show for this DUP	14	78121097	78407296	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.78121098_78407296dup	VUS	1 lab	0c937938c8
9:107574883 ABCA1 C>G	9	107574883	107574883	C	G	ABCA1	c.4022G>C	NM_005502.4	NP_005493.2:p.(Arg1341Thr)	NC_000009.11:g.107574883C>G	VUS	1 lab	0c9504157c
22:38374120 SOX10 G>A	22	38374120	38374120	G	A	SOX10	c.451C>T	NM_006941.4	NP_008872.1:p.(Arg151Cys)	NC_000022.10:g.38374120G>A	VUS	1 lab	0c9a4d9bee
12:57969558 KIF5A C>T	12	57969558	57969558	C	T	KIF5A	c.2023+18C>T	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57969558C>T	(Likely) benign	1 lab	0ca13c8c32
19:11227940 LDLR C>CTTCTG	19	11227940	11227941	C	CTTCTG	LDLR	c.1845+266_1845+267insTTCTG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227940_11227941insTTCTG	(Likely) benign	1 lab	0ca5b134c3
16:88504733 ZNF469 G>A	16	88504733	88504733	G	A	ZNF469	c.10855G>A	NM_001367624.2	NP_001354553.1:p.(Val3619Met)	NC_000016.9:g.88504733G>A	(Likely) benign	1 lab	0ca640f376
15:22770420 MISSING Ref too long to show for this DEL>A	15	22770420	23082328	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770421_23082328del	(Likely) pathogenic	1 lab	0caaed933b
12:2224288 CACNA1C A>C	12	2224288	2224288	A	C	CACNA1C	c.50-102A>C	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2224288A>C	(Likely) benign	1 lab	0cabc6f8b2
21:46798079 MISSING G>Alt too long to show for this DUP	21	46798079	46853021	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.46798081_46853021dup	VUS	1 lab	0caccaef78
2:105984136 FHL2 C>T	2	105984136	105984136	C	T	FHL2	c.392G>A	NM_201555.2	NP_963849.1:p.(Arg131His)	NC_000002.11:g.105984136C>T	VUS	1 lab	0cb0b2298c
2:169836500 ABCB11 AAG>A	2	169836500	169836509	AAG	A	ABCB11	c.1084-13_1084-12del	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169836508_169836509del	(Likely) benign	1 lab	0cb1711eb9
1:173702857 KLHL20 C>T	1	173702857	173702857	C	T	KLHL20	c.29C>T	NM_014458.4	NP_055273.2:p.(Thr10Ile)	NC_000001.10:g.173702857C>T	(Likely) benign	1 lab	0cb36b48f8
11:47367729 MYBPC3 T>C	11	47367729	47367729	T	C	MYBPC3	c.1090+29A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367729T>C	(Likely) benign	1 lab	0cb9f81e1a
6:66094372 EYS T>C	6	66094372	66094372	T	C	EYS	c.1206A>G	NM_001292009.2	NP_001278938.1:p.(Glu402=)	NC_000006.11:g.66094372T>C	(Likely) benign	1 lab	0cba09a690
9:107555169 ABCA1 T>C	9	107555169	107555169	T	C	ABCA1	c.5655A>G	NM_005502.4	NP_005493.2:p.(Leu1885=)	NC_000009.11:g.107555169T>C	(Likely) benign	1 lab	0cbb59aac6
1:156849775 NTRK1 T>C	1	156849775	156849775	T	C	NTRK1	c.2047-16T>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156849775T>C	(Likely) benign	1 lab	0cbdf4f98b
15:48892251 FBN1 G>C	15	48892251	48892251	G	C	FBN1	c.442+85C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48892251G>C	(Likely) benign	1 lab	0cbe2e5a0b
18:45377495 SMAD2 A>G	18	45377495	45377495	A	G	SMAD2	c.784+150T>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45377495A>G	(Likely) benign	1 lab	0cbe5caf77
11:47365425 MYBPC3 T>C	11	47365425	47365425	T	C	MYBPC3	c.1091-250A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365425T>C	(Likely) benign	1 lab	0cbefdfcf4
14:78063694 SPTLC2 T>G	14	78063694	78063694	T	G	SPTLC2	c.162A>C	NM_004863.4	NP_004854.1:p.(Leu54=)	NC_000014.8:g.78063694T>G	(Likely) benign	1 lab	0cc0579d8a
11:65829479 SF3B2 G>T	11	65829479	65829479	G	T	SF3B2	c.1977+10G>T	NM_006842.3	NP_006833.2:p.?	NC_000011.9:g.65829479G>T	(Likely) benign	1 lab	0cc0d64e9c
1:11078847 TARDBP G>C	1	11078847	11078847	G	C	TARDBP	c.460G>C	NM_007375.4	NP_031401.1:p.(Glu154Gln)	NC_000001.10:g.11078847G>C	VUS	1 lab	0ccc8a166e
20:42815199 JPH2 T>C	20	42815199	42815199	T	C	JPH2	c.147A>G	NM_020433.5	NP_065166.2:p.(Ala49=)	NC_000020.10:g.42815199T>C	(Likely) benign	1 lab	0ccdf40ab5
12:110230537 TRPV4 G>A	12	110230537	110230537	G	A	TRPV4	c.1744C>T	NM_021625.5	NP_067638.3:p.(Leu582=)	NC_000012.11:g.110230537G>A	(Likely) benign	1 lab	0cd1ae2825
2:212511064 ERBB4 Ref too long to show for this DEL>A	2	212511064	212682371	Ref too long to show for this DEL	A	ERBB4	c.422-29485_1946+11414del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212511067_212682371del	VUS	1 lab	0cd1f861b4
10:68139078 CTNNA3 T>C	10	68139078	68139078	T	C	CTNNA3	c.1564A>G	NM_013266.4	NP_037398.2:p.(Ile522Val)	NC_000010.10:g.68139078T>C	VUS	1 lab	0ced3ed097
12:133245178 POLE A>AC	12	133245178	133245181	A	AC	POLE	c.2026+42dup	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133245181dup	(Likely) benign	1 lab	0cd7c65a18
X:153496073 OPN1MW2 G>A	X	153496073	153496073	G	A	OPN1MW2	c.801G>A	NM_001048181.2	NP_001041646.1:p.(Thr267=)	NC_000023.10:g.153496073G>A	(Likely) benign	1 lab	0cdbf831fc
12:32974216 PKP2 C>T	12	32974216	32974216	C	T	PKP2	c.2145+74G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32974216C>T	(Likely) benign	1 lab	0cdcccaefd
2:21249697 APOB T>C	2	21249697	21249697	T	C	APOB	c.2207A>G	NM_000384.3	NP_000375.3:p.(Asp736Gly)	NC_000002.11:g.21249697T>C	VUS	1 lab	0cdde95ca9
14:55509664 SOCS4 C>T	14	55509664	55509664	C	T	SOCS4	c.-90-6C>T	NM_199421.2	NP_955453.1:p.?	NC_000014.8:g.55509664C>T	(Likely) benign	1 lab	0ce3f59e31
15:48762862 FBN1 G>A	15	48762862	48762862	G	A	FBN1	c.4428C>T	NM_000138.5	NP_000129.3:p.(Tyr1476=)	NC_000015.9:g.48762862G>A	(Likely) benign	1 lab	0ce6610474
17:75398280 SEPTIN9 A>G	17	75398280	75398280	A	G	SEPTIN9	c.162A>G	NM_006640.5	NP_006631.2:p.(Glu54=)	NC_000017.10:g.75398280A>G	(Likely) benign	1 lab	0ce719aefe
11:71238746 KRTAP5-7 T>TC	11	71238746	71238747	T	TC	KRTAP5-7	c.401dup	NM_001012503.2	NP_001012521.1:p.(Gly135ArgfsTer20)	NC_000011.9:g.71238747dup	(Likely) benign	1 lab	0ce9a12b11
11:66298351 BBS1 C>T	11	66298351	66298351	C	T	BBS1	c.1474-14C>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66298351C>T	(Likely) benign	1 lab	0ceadffc52
2:179440876 TTN G>A	2	179440876	179440876	G	A	TTN	c.69983C>T	NM_001267550.2	NP_001254479.2:p.(Ala23328Val)	NC_000002.11:g.179440876G>A	VUS	1 lab	0ceb708bfc
10:73544094 CDH23 G>A	10	73544094	73544094	G	A	CDH23	c.5419G>A	NM_022124.6	NP_071407.4:p.(Val1807Met)	NC_000010.10:g.73544094G>A	(Likely) benign	1 lab	0ceb858fc2
12:81239721 LIN7A GA>G	12	81239721	81239736	GA	G	LIN7A	c.274-4del	NM_004664.4	NP_004655.1:p.?	NC_000012.11:g.81239736del	(Likely) benign	1 lab	0cebb21d13
5:149357646 SLC26A2 C>CT	5	149357646	149357653	C	CT	SLC26A2	c.438dup	NM_000112.4	NP_000103.2:p.(Ala147CysfsTer28)	NC_000005.9:g.149357653dup	(Likely) pathogenic	1 lab	0cf0c1972d
16:88734266 MISSING G>Alt too long to show for this DUP	16	88734266	89304889	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.88734267_89304889dup	VUS	1 lab	0cf16521bc
2:21224828 APOB G>T	2	21224828	21224828	G	T	APOB	c.13466C>A	NM_000384.3	NP_000375.3:p.(Ser4489Tyr)	NC_000002.11:g.21224828G>T	VUS	1 lab	0cf1d36978
2:179656858 TTN G>A	2	179656858	179656858	G	A	TTN	c.1603C>T	NM_133378.4	NP_596869.4:p.(Gln535Ter)	NC_000002.11:g.179656858G>A	(Likely) pathogenic	1 lab	0cf3da1385
6:87969505 ZNF292 CAG>C	6	87969505	87969508	CAG	C	ZNF292	c.5740_5741del	NM_001351444.2	NP_001338373.1:p.(Glu1914LysfsTer14)	NC_000006.11:g.87969507_87969508del	(Likely) pathogenic	1 lab	0cf96dbd69
5:127609834 FBN2 A>C	5	127609834	127609834	A	C	FBN2	c.7712-174T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127609834A>C	(Likely) benign	1 lab	0cff3c2060
12:133226311 POLE C>T	12	133226311	133226311	C	T	POLE	c.3747G>A	NM_006231.4	NP_006222.2:p.(Val1249=)	NC_000012.11:g.133226311C>T	(Likely) benign	1 lab	0cff4502c0
4:155665997 LRAT G>T	4	155665997	155665997	G	T	LRAT	c.519G>T	NM_004744.5	NP_004735.2:p.(Pro173=)	NC_000004.11:g.155665997G>T	(Likely) benign	1 lab	0d0061dc42
2:21231145 APOB A>AT	2	21231145	21231152	A	AT	APOB	c.8594dup	NM_000384.3	NP_000375.3:p.(Asn2865LysfsTer6)	NC_000002.11:g.21231152dup	(Likely) pathogenic	1 lab	0d01d0d99d
12:50503249 GPD1 C>A	12	50503249	50503249	C	A	GPD1	c.997C>A	NM_005276.4	NP_005267.2:p.(Gln333Lys)	NC_000012.11:g.50503249C>A	VUS	1 lab	0d01ffe12e
3:38608067 SCN5A C>T	3	38608067	38608067	C	T	SCN5A	c.3673G>A	NM_198056.3	NP_932173.1:p.(Glu1225Lys)	NC_000003.11:g.38608067C>T	(Likely) pathogenic	1 lab	0d0224d564
15:89871994 POLG T>TA	15	89871994	89871995	T	TA	POLG	c.1091dup	NM_002693.3	NP_002684.1:p.(Gly365ArgfsTer23)	NC_000015.9:g.89871995dup	(Likely) pathogenic	1 lab	0d05c257af
6:42141517 GUCA1ANB-GUCA1A G>T	6	42141517	42141517	G	T	GUCA1ANB-GUCA1A	c.166G>T	NM_000409.5	NP_000400.2:p.(Val56Leu)	NC_000006.11:g.42141517G>T	(Likely) benign	1 lab	0d091d2eaf
6:32012260 TNXB G>A	6	32012260	32012260	G	A	TNXB	c.11155C>T	NM_019105.8	NP_061978.6:p.(Arg3719Trp)	NC_000006.11:g.32012260G>A	VUS	1 lab	0d0a3263b9
3:38798293 SCN10A G>A	3	38798293	38798293	G	A	SCN10A	c.1162C>T	NM_006514.4	NP_006505.4:p.(Leu388=)	NC_000003.11:g.38798293G>A	(Likely) benign	1 lab	0d0cf4cc00
15:72023533 THSD4 AGGT>A	15	72023533	72023537	AGGT	A	THSD4	c.1609_1611del	NM_024817.2	NP_079093.2:p.(Val537del)	NC_000015.9:g.72023535_72023537del	VUS	1 lab	0d0fe870d4
14:74975397 LTBP2 G>A	14	74975397	74975397	G	A	LTBP2	c.3562C>T	NM_000428.3	NP_000419.1:p.(Pro1188Ser)	NC_000014.8:g.74975397G>A	VUS	1 lab	0d10404b02
12:32996144 PKP2 T>C	12	32996144	32996144	T	C	PKP2	c.1482A>G	NM_004572.4	NP_004563.2:p.(Ser494=)	NC_000012.11:g.32996144T>C	(Likely) benign	1 lab	0d104cf397
2:179615171 TTN G>A	2	179615171	179615171	G	A	TTN	c.11956C>T	NM_133379.5	NP_596870.2:p.(Arg3986Cys)	NC_000002.11:g.179615171G>A	VUS	1 lab	0d12589258
22:51159624 SHANK3 C>T	22	51159624	51159624	C	T	SHANK3	c.3588C>T	NM_001372044.2	NP_001358973.1:p.(Ser1196=)	NC_000022.10:g.51159624C>T	(Likely) benign	1 lab	0d14911ca9
18:47108777 LIPG T>C	18	47108777	47108777	T	C	LIPG	c.1082T>C	NM_006033.4	NP_006024.1:p.(Met361Thr)	NC_000018.9:g.47108777T>C	(Likely) benign	1 lab	0d1493ba76
10:90986750 LIPA A>G	10	90986750	90986750	A	G	LIPA	c.440T>C	NM_001127605.3	NP_001121077.1:p.(Met147Thr)	NC_000010.10:g.90986750A>G	VUS	1 lab	0d153236d7
11:47371045 MYBPC3 G>A	11	47371045	47371045	G	A	MYBPC3	c.654+280C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371045G>A	(Likely) benign	1 lab	0d169dd8ed
14:50670984 SOS2 T>A	14	50670984	50670984	T	A	SOS2	c.213+18A>T	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50670984T>A	(Likely) benign	1 lab	0d17152af6
2:111408128 BUB1 G>GC	2	111408128	111408129	G	GC	BUB1	c.2197dup	NM_004336.5	NP_004327.1:p.(Ala733GlyfsTer12)	NC_000002.11:g.111408129dup	VUS	1 lab	0d1844ec15
10:103825863 HPS6 G>C	10	103825863	103825863	G	C	HPS6	c.632G>C	NM_024747.6	NP_079023.2:p.(Gly211Ala)	NC_000010.10:g.103825863G>C	(Likely) benign	1 lab	0d1a641384
15:34163232 AVEN CTA>C	15	34163232	34163246	CTA	C	AVEN	c.517-3_517-2del	NM_020371.3	NP_065104.1:p.?	NC_000015.9:g.34163245_34163246del	(Likely) benign	1 lab	0d1cc243af
10:91005486 LIPA T>C	10	91005486	91005486	T	C	LIPA	c.176A>G	NM_000235.4	NP_000226.2:p.(Tyr59Cys)	NC_000010.10:g.91005486T>C	VUS	1 lab	0d1f137ab2
1:23191718 EPHB2 G>A	1	23191718	23191718	G	A	EPHB2	c.1303+13G>A	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23191718G>A	(Likely) benign	1 lab	213a4da553
16:1004031 LMF1 A>AACCAGCCTCCTACACGTCCACACAGACACCCACCCCAC	16	1004031	1004061	A	AACCAGCCTCCTACACGTCCACACAGACACCCACCCCAC	LMF1	c.-52+325_-52+326insGTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGT	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004060_1004061insCCACCCCACACCAGCCTCCTACACGTCCACACAGACAC	(Likely) benign	1 lab	0d220f33ce
7:128486088 FLNC T>TC	7	128486088	128486091	T	TC	FLNC	c.3838dup	NM_001458.5	NP_001449.3:p.(Leu1280ProfsTer52)	NC_000007.13:g.128486091dup	(Likely) pathogenic	1 lab	0d23363d01
19:10250470 DNMT1 C>T	19	10250470	10250470	C	T	DNMT1	c.3830G>A	NM_001130823.3	NP_001124295.1:p.(Arg1277Gln)	NC_000019.9:g.10250470C>T	VUS	1 lab	0d234d784f
18:31324211 ASXL3 C>T	18	31324211	31324211	C	T	ASXL3	c.4399C>T	NM_030632.3	NP_085135.1:p.(Arg1467Ter)	NC_000018.9:g.31324211C>T	(Likely) pathogenic	1 lab	0d26df29c6
17:80897245 TBCD C>G	17	80897245	80897245	C	G	TBCD	c.3372C>G	NM_005993.5	NP_005984.3:p.(Ile1124Met)	NC_000017.10:g.80897245C>G	VUS	1 lab	0d2776f798
19:17766900 UNC13A C>T	19	17766900	17766900	C	T	UNC13A	c.1075G>A	NM_001080421.3	NP_001073890.2:p.(Ala359Thr)	NC_000019.9:g.17766900C>T	(Likely) benign	1 lab	0d2777a105
11:68696734 IGHMBP2 G>A	11	68696734	68696734	G	A	IGHMBP2	c.1144G>A	NM_002180.3	NP_002171.2:p.(Glu382Lys)	NC_000011.9:g.68696734G>A	(Likely) pathogenic	1 lab	0d28e89bb9
12:48377171 COL2A1 G>A	12	48377171	48377171	G	A	COL2A1	c.2046C>T	NM_001844.5	NP_001835.3:p.(Asp682=)	NC_000012.11:g.48377171G>A	(Likely) benign	1 lab	0d2a29262f
8:10480546 RP1L1 G>A	8	10480546	10480546	G	A	RP1L1	c.166C>T	NM_178857.6	NP_849188.4:p.(Arg56Cys)	NC_000008.10:g.10480546G>A	(Likely) benign	1 lab	0d2a7781a0
5:127610125 FBN2 C>T	5	127610125	127610125	C	T	FBN2	c.7711+134G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127610125C>T	(Likely) benign	1 lab	0d2a7b2d99
1:3764134 CEP104 G>A	1	3764134	3764134	G	A	CEP104	c.331C>T	NM_014704.4	NP_055519.1:p.(Arg111Trp)	NC_000001.10:g.3764134G>A	VUS	1 lab	0d2c8daa1d
16:942989 LMF1 G>C	16	942989	942989	G	C	LMF1	c.330+18C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942989G>C	(Likely) benign	1 lab	213ae2e45e
14:23853672 MYH6 G>A	14	23853672	23853672	G	A	MYH6	c.5544C>T	NM_002471.4	NP_002462.2:p.(Arg1848=)	NC_000014.8:g.23853672G>A	(Likely) benign	1 lab	0d2f8b028f
5:131046359 FNIP1 A>G	5	131046359	131046359	A	G	FNIP1	c.623-5T>C	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.131046359A>G	(Likely) benign	1 lab	0d2f9fa7e6
19:11216128 LDLR G>A	19	11216128	11216128	G	A	LDLR	c.546G>A	NM_000527.5	NP_000518.1:p.(Gln182=)	NC_000019.9:g.11216128G>A	(Likely) benign	1 lab	0d32b5bff6
8:144995077 PLEC C>T	8	144995077	144995077	C	T	PLEC	c.9323G>A	NM_201380.4	NP_958782.1:p.(Arg3108Gln)	NC_000008.10:g.144995077C>T	VUS	1 lab	0d4138a276
10:103296240 MISSING A>Alt too long to show for this DUP	10	103296240	103413100	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.103296241_103413100dup	VUS	1 lab	0d41587b5f
1:12057373 MFN2 A>G	1	12057373	12057373	A	G	MFN2	c.494A>G	NM_014874.4	NP_055689.1:p.(His165Arg)	NC_000001.10:g.12057373A>G	(Likely) pathogenic	1 lab	0d4735ace2
5:37162686 CPLANE1 A>T	5	37162686	37162686	A	T	CPLANE1	c.7589-18T>A	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37162686A>T	(Likely) benign	1 lab	0d48676e8e
19:11224781 LDLR CAA>C	19	11224781	11224798	CAA	C	LDLR	c.1586+359_1586+360del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224797_11224798del	(Likely) benign	1 lab	0d48a06b85
11:99696843 CNTN5 Ref too long to show for this DEL>T	11	99696843	99758864	Ref too long to show for this DEL	T	CNTN5	c.277+6348_578-27922del	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.99696844_99758864del	VUS	1 lab	0d49dcdfd5
9:107665953 ABCA1 C>A	9	107665953	107665953	C	A	ABCA1	c.8G>T	NM_005502.4	NP_005493.2:p.(Cys3Phe)	NC_000009.11:g.107665953C>A	VUS	1 lab	0d517aaa84
2:179399223 TTN TTGAA>T	2	179399223	179399229	TTGAA	T	TTN	c.102115_102118del	NM_001267550.2	NP_001254479.2:p.(Phe34039LysfsTer15)	NC_000002.11:g.179399226_179399229del	(Likely) pathogenic	1 lab	0d52ef646d
5:101463362 MISSING Ref too long to show for this DEL>C	5	101463362	102013428	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.101463363_102013428del	VUS	1 lab	0d565cebd6
16:971383 LMF1 G>A	16	971383	971383	G	A	LMF1	c.116-10304C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.971383G>A	(Likely) benign	1 lab	0d574c082a
X:48214185 SSX3 CA>C	X	48214185	48214199	CA	C	SSX3	c.70-5del	NM_021014.4	NP_066294.1:p.?	NC_000023.10:g.48214199del	(Likely) benign	1 lab	0d577ebaa1
16:15878457 MYH11 C>G	16	15878457	15878457	C	G	MYH11	c.654+98G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15878457C>G	(Likely) benign	1 lab	0d578223a2
5:150698420 SLC36A2 Ref too long to show for this DEL>A	5	150698420	150712522	Ref too long to show for this DEL	A	SLC36A2	c.843+263_1181-1772del	NM_181776.3	NP_861441.2:p.?	NC_000005.9:g.150698421_150712522del	VUS	1 lab	0d5931c6d9
6:56373536 DST C>T	6	56373536	56373536	C	T	DST	c.12673G>A	NM_001144769.5	NP_001138241.1:p.(Asp4225Asn)	NC_000006.11:g.56373536C>T	(Likely) benign	1 lab	0d656ed164
2:47707830 MSH2 T>A	2	47707830	47707830	T	A	MSH2	c.2459-5T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47707830T>A	VUS	1 lab	0d65f909a3
4:88959381 PKD2 G>A	4	88959381	88959381	G	A	PKD2	c.844-22G>A	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88959381G>A	(Likely) benign	1 lab	0d66047c7d
7:107704199 LAMB4 G>C	7	107704199	107704199	G	C	LAMB4	c.3061+7C>G	NM_007356.3	NP_031382.2:p.?	NC_000007.13:g.107704199G>C	(Likely) benign	1 lab	0d66a87e7d
16:30455427 MISSING Ref too long to show for this DEL>G	16	30455427	30537377	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.30455428_30537377del	VUS	1 lab	0d673a46d6
8:22262321 SLC39A14 T>C	8	22262321	22262321	T	C	SLC39A14	c.98T>C	NM_001351660.2	NP_001338589.1:p.(Leu33Pro)	NC_000008.10:g.22262321T>C	(Likely) benign	1 lab	0d683cadb0
1:103352631 COL11A1 G>A	1	103352631	103352631	G	A	COL11A1	c.4645-19C>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103352631G>A	(Likely) benign	1 lab	0d68ecebb9
14:74973513 LTBP2 G>A	14	74973513	74973513	G	A	LTBP2	c.3921C>T	NM_000428.3	NP_000419.1:p.(Cys1307=)	NC_000014.8:g.74973513G>A	(Likely) benign	1 lab	0d6c7c3d46
9:107620834 ABCA1 C>T	9	107620834	107620834	C	T	ABCA1	c.689G>A	NM_005502.4	NP_005493.2:p.(Arg230His)	NC_000009.11:g.107620834C>T	VUS	1 lab	0d6d5f2e63
7:94050206 COL1A2 A>AT	7	94050206	94050212	A	AT	COL1A2	c.2296-109dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94050212dup	(Likely) benign	1 lab	0d6da1f77b
12:110006577 MMAB A>G	12	110006577	110006577	A	G	MMAB	c.288T>C	NM_052845.4	NP_443077.1:p.(Ile96=)	NC_000012.11:g.110006577A>G	(Likely) benign	1 lab	0d6f41f1c3
22:22998283 MISSING C>Alt too long to show for this DUP	22	22998283	23643223	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.22998284_23643223dup	(Likely) pathogenic	1 lab	0d6ff9790b
2:219677436 CYP27A1 C>T	2	219677436	219677436	C	T	CYP27A1	c.808C>T	NM_000784.4	NP_000775.1:p.(Arg270Ter)	NC_000002.11:g.219677436C>T	(Likely) pathogenic	1 lab	0d75eba5dd
16:56519574 BBS2 T>TA	16	56519574	56519575	T	TA	BBS2	c.1986dup	NM_031885.5	NP_114091.4:p.(Asn663Ter)	NC_000016.9:g.56519575dup	(Likely) pathogenic	1 lab	0d76229199
12:20876168 SLCO1C1 C>T	12	20876168	20876168	C	T	SLCO1C1	c.1166C>T	NM_001145946.2	NP_001139418.1:p.(Ser389Phe)	NC_000012.11:g.20876168C>T	(Likely) benign	1 lab	0d7bca96fa
3:58109162 FLNB G>A	3	58109162	58109162	G	A	FLNB	c.3469G>A	NM_001164317.2	NP_001157789.1:p.(Asp1157Asn)	NC_000003.11:g.58109162G>A	(Likely) benign	1 lab	0d93183adf
3:100992436 IMPG2 ATTC>A	3	100992436	100992445	ATTC	A	IMPG2	c.814_816del	NM_016247.4	NP_057331.2:p.(Glu272del)	NC_000003.11:g.100992443_100992445del	VUS	1 lab	0d7fca986b
4:86016 ZNF595 G>GC	4	86016	86017	G	GC	ZNF595	c.622_625=	NM_182524.4	NP_872330.1:p.(Ala208_Phe209=)	NC_000004.11:g.86017dup	(Likely) benign	1 lab	0d803eb48d
16:919969 LMF1 T>G	16	919969	919969	T	G	LMF1	c.931A>C	NM_001352018.2	NP_001338947.1:p.(Lys311Gln)	NC_000016.9:g.919969T>G	VUS	1 lab	0d84ac2412
1:214542891 PTPN14 G>A	1	214542891	214542891	G	A	PTPN14	c.3180C>T	NM_005401.5	NP_005392.2:p.(His1060=)	NC_000001.10:g.214542891G>A	(Likely) benign	1 lab	0d852e4d50
15:48727150 FBN1 C>T	15	48727150	48727150	C	T	FBN1	c.6497-240G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48727150C>T	(Likely) benign	1 lab	0d89473fdb
2:21224617 APOB A>G	2	21224617	21224617	A	G	APOB	c.13677T>C	NM_000384.3	NP_000375.3:p.(Leu4559=)	NC_000002.11:g.21224617A>G	(Likely) benign	1 lab	0d8bdd0137
X:153640269 TAFAZZIN C>T	X	153640269	153640269	C	T	TAFAZZIN	c.89C>T	NM_000116.5	NP_000107.1:p.(Thr30Ile)	NC_000023.10:g.153640269C>T	VUS	1 lab	0d8e4c5ff5
19:11240345 LDLR C>A	19	11240345	11240345	C	A	LDLR	c.2546C>A	NM_000527.5	NP_000518.1:p.(Ser849Ter)	NC_000019.9:g.11240345C>A	(Likely) pathogenic	1 lab	0d90493c0d
9:107646711 ABCA1 G>C	9	107646711	107646711	G	C	ABCA1	c.299C>G	NM_005502.4	NP_005493.2:p.(Ser100Cys)	NC_000009.11:g.107646711G>C	VUS	1 lab	0d9198e5b9
20:34805138 MISSING C>Alt too long to show for this DUP	20	34805138	34833216	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.34805139_34833216dup	(Likely) pathogenic	1 lab	0d9598d28b
2:179458580 TTN G>C	2	179458580	179458580	G	C	TTN	c.58447C>G	NM_001267550.2	NP_001254479.2:p.(Pro19483Ala)	NC_000002.11:g.179458580G>C	VUS	1 lab	0d96744c9e
3:176770396 MISSING A>Alt too long to show for this DUP	3	176770396	177092739	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.176770400_177092739dup	VUS	1 lab	0d98cfc948
9:107560804 ABCA1 G>A	9	107560804	107560804	G	A	ABCA1	c.5019C>T	NM_005502.4	NP_005493.2:p.(Val1673=)	NC_000009.11:g.107560804G>A	(Likely) benign	1 lab	0d98db52c5
11:95574816 MTMR2 G>A	11	95574816	95574816	G	A	MTMR2	c.1228C>T	NM_001243571.2	NP_001230500.1:p.(Gln410Ter)	NC_000011.9:g.95574816G>A	(Likely) pathogenic	1 lab	0d9b2879b4
6:7581713 DSP C>T	6	7581713	7581713	C	T	DSP	c.5290C>T	NM_004415.4	NP_004406.2:p.(Leu1764=)	NC_000006.11:g.7581713C>T	(Likely) benign	1 lab	0d9ba2a1ca
16:81211491 PKD1L2 G>A	16	81211491	81211491	G	A	PKD1L2	c.2358C>T	NM_001076780.2	NP_001070248.1:p.(Thr786=)	NC_000016.9:g.81211491G>A	(Likely) benign	1 lab	0d9bf76b2b
5:58295380 PDE4D G>GTATATA	5	58295380	58295395	G	GTATATA	PDE4D	c.-23_-18dup	NM_001197223.2	NP_001184152.1:p.?	NC_000005.9:g.58295390_58295395dup	(Likely) benign	1 lab	0d9edacfbe
19:2123810 AP3D1 C>T	19	2123810	2123810	C	T	AP3D1	c.906+19G>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2123810C>T	VUS	1 lab	0da0a0da5a
9:80880476 CEP78 G>T	9	80880476	80880476	G	T	CEP78	c.1800+17G>T	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80880476G>T	(Likely) benign	1 lab	0da2c43f51
17:44039824 MAPT G>A	17	44039824	44039824	G	A	MAPT	c.121G>A	NM_001123066.4	NP_001116538.2:p.(Ala41Thr)	NC_000017.10:g.44039824G>A	VUS	1 lab	0da3f41517
11:31775395 MISSING A>Alt too long to show for this DUP	11	31775395	31849574	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.31775398_31849574dup	(Likely) pathogenic	1 lab	0da44fac04
1:161276590 MPZ T>C	1	161276590	161276590	T	C	MPZ	c.356A>G	NM_000530.8	NP_000521.2:p.(Tyr119Cys)	NC_000001.10:g.161276590T>C	(Likely) pathogenic	1 lab	0da4f6b6df
16:28880675 SH2B1 C>T	16	28880675	28880675	C	T	SH2B1	c.1280C>T	NM_001145795.2	NP_001139267.1:p.(Pro427Leu)	NC_000016.9:g.28880675C>T	VUS	1 lab	0da5adfc37
4:100516380 MTTP T>A	4	100516380	100516380	T	A	MTTP	c.909+340T>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100516380T>A	(Likely) benign	1 lab	0da5c0d54b
3:38991569 SCN11A C>CCCG	3	38991569	38991572	C	CCCG	SCN11A	c.267+17_267+18insCGG	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991571_38991572insGCC	(Likely) benign	1 lab	0da5fdd3b2
10:92678605 ANKRD1 C>A	10	92678605	92678605	C	A	ANKRD1	c.453+17G>T	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678605C>A	(Likely) benign	1 lab	0da90f3928
12:1005522 WNK1 C>T	12	1005522	1005522	C	T	WNK1	c.6649C>T	NM_001184985.2	NP_001171914.1:p.(Arg2217Cys)	NC_000012.11:g.1005522C>T	VUS	1 lab	0daa1a26f3
15:48703504 FBN1 T>C	15	48703504	48703504	T	C	FBN1	c.8299A>G	NM_000138.5	NP_000129.3:p.(Asn2767Asp)	NC_000015.9:g.48703504T>C	VUS	1 lab	0dac2d3630
3:108179219 MYH15 C>CA	3	108179219	108179232	C	CA	MYH15	c.1925-6dup	NM_014981.2	NP_055796.1:p.?	NC_000003.11:g.108179232dup	(Likely) benign	1 lab	0dadd7ad67
8:133961085 TG GGAT>G	8	133961085	133961088	GGAT	G	TG	c.5299_5301del	NM_003235.5	NP_003226.4:p.(Asp1767del)	NC_000008.10:g.133961086_133961088del	(Likely) benign	1 lab	0db0933ac6
20:20569908 RALGAPA2 Ref too long to show for this DEL>T	20	20569908	20601328	Ref too long to show for this DEL	T	RALGAPA2	c.1234-52_2439+3del	NM_020343.4	NP_065076.2:p.?	NC_000020.10:g.20569911_20601328del	VUS	1 lab	0db2527c0c
X:39933592 BCOR G>A	X	39933592	39933592	G	A	BCOR	c.1007C>T	NM_001123385.2	NP_001116857.1:p.(Ser336Leu)	NC_000023.10:g.39933592G>A	VUS	1 lab	0db973a4c7
2:166929971 SCN1A T>A	2	166929971	166929971	T	A	SCN1A	c.161A>T	NM_001165963.4	NP_001159435.1:p.(Asp54Val)	NC_000002.11:g.166929971T>A	VUS	1 lab	0dba7dc5e4
6:56484655 DST G>T	6	56484655	56484655	G	T	DST	c.4177C>A	NM_001723.7	NP_001714.1:p.(Gln1393Lys)	NC_000006.11:g.56484655G>T	VUS	1 lab	0dbb2ec10a
17:74470000 RHBDF2 A>T	17	74470000	74470000	A	T	RHBDF2	c.1662-16T>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74470000A>T	(Likely) benign	1 lab	0dbe3f5522
9:117070064 COL27A1 C>T	9	117070064	117070064	C	T	COL27A1	c.5217+6C>T	NM_032888.4	NP_116277.2:p.?	NC_000009.11:g.117070064C>T	(Likely) benign	1 lab	0dc754bc8b
16:920732 LMF1 C>T	16	920732	920732	C	T	LMF1	c.1229G>A	NM_022773.4	NP_073610.2:p.(Gly410Glu)	NC_000016.9:g.920732C>T	VUS	1 lab	0dc8781d83
6:133122460 MISSING Ref too long to show for this DEL>C	6	133122460	133149660	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.133122461_133149660del	VUS	1 lab	0dc99f5f2d
16:88496285 ZNF469 G>T	16	88496285	88496285	G	T	ZNF469	c.2407G>T	NM_001367624.2	NP_001354553.1:p.(Ala803Ser)	NC_000016.9:g.88496285G>T	(Likely) benign	1 lab	0dcb0af054
3:37555387 ITGA9 G>A	3	37555387	37555387	G	A	ITGA9	c.1031G>A	NM_002207.3	NP_002198.2:p.(Gly344Glu)	NC_000003.11:g.37555387G>A	(Likely) benign	1 lab	0dcc7e5dc6
X:71840693 PHKA1 G>C	X	71840693	71840693	G	C	PHKA1	c.2019C>G	NM_002637.4	NP_002628.2:p.(Pro673=)	NC_000023.10:g.71840693G>C	(Likely) benign	1 lab	0dcffc1a73
1:156837895 NTRK1 G>C	1	156837895	156837895	G	C	NTRK1	c.429-1G>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156837895G>C	VUS	1 lab	0dd18c98f5
16:961090 LMF1 G>A	16	961090	961090	G	A	LMF1	c.116-11C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.961090G>A	(Likely) benign	1 lab	0dd27fd672
2:179645926 TTN C>T	2	179645926	179645926	C	T	TTN	c.3445G>A	NM_001267550.2	NP_001254479.2:p.(Asp1149Asn)	NC_000002.11:g.179645926C>T	VUS	1 lab	0dd3668783
1:55523106 PCSK9 G>C	1	55523106	55523106	G	C	PCSK9	c.1099G>C	NM_174936.4	NP_777596.2:p.(Asp367His)	NC_000001.10:g.55523106G>C	VUS	1 lab	0dd7a40f67
18:52896181 TCF4 GC>G	18	52896181	52896183	GC	G	TCF4	c.1775del	NM_001083962.2	NP_001077431.1:p.(Gly592AlafsTer18)	NC_000018.9:g.52896183del	(Likely) pathogenic	1 lab	0dd8e3668f
2:214769083 SPAG16 C>Alt too long to show for this DUP	2	214769083	215023825	C	Alt too long to show for this DUP	SPAG16	c.1215-25600_1720+9835dup	NM_024532.5	NP_078808.3:p.?	NC_000002.11:g.214769084_215023825dup	VUS	1 lab	0ddd34fe37
7:103205847 RELN A>G	7	103205847	103205847	A	G	RELN	c.5088T>C	NM_005045.4	NP_005036.2:p.(Leu1696=)	NC_000007.13:g.103205847A>G	(Likely) benign	1 lab	0dddb7cbd7
16:88787607 PIEZO1 CCTT>C	16	88787607	88787614	CCTT	C	PIEZO1	c.5632_5634del	NM_001142864.4	NP_001136336.2:p.(Lys1878del)	NC_000016.9:g.88787612_88787614del	(Likely) benign	1 lab	0ddf3f928d
10:104449656 ARL3 C>T	10	104449656	104449656	C	T	ARL3	c.309G>A	NM_004311.4	NP_004302.1:p.(Thr103=)	NC_000010.10:g.104449656C>T	(Likely) benign	1 lab	0ddf633f9b
8:54870975 RGS20 A>C	8	54870975	54870975	A	C	RGS20	c.1124A>C	NM_170587.4	NP_733466.1:p.(Lys375Thr)	NC_000008.10:g.54870975A>C	(Likely) benign	1 lab	0de0fd3a3d
X:51075901 NUDT10 G>A	X	51075901	51075901	G	A	NUDT10	c.84G>A	NM_153183.4	NP_694853.1:p.(Glu28=)	NC_000023.10:g.51075901G>A	(Likely) benign	1 lab	0de2a0a659
7:72687249 MISSING Ref too long to show for this DEL>A	7	72687249	74164861	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72687251_74164861del	(Likely) pathogenic	1 lab	0de2a4e980
7:154684070 DPP6 T>C	7	154684070	154684070	T	C	DPP6	c.2478T>C	NM_130797.4	NP_570629.2:p.(Phe826=)	NC_000007.13:g.154684070T>C	(Likely) benign	1 lab	0dfe5618f0
1:2160499 SKI C>T	1	2160499	2160499	C	T	SKI	c.294C>T	NM_003036.4	NP_003027.1:p.(Thr98=)	NC_000001.10:g.2160499C>T	(Likely) benign	1 lab	0de9cf715f
2:202589136 ALS2 G>A	2	202589136	202589136	G	A	ALS2	c.3394C>T	NM_020919.4	NP_065970.2:p.(Arg1132Cys)	NC_000002.11:g.202589136G>A	VUS	1 lab	0deaa792e3
10:102778027 PDZD7 TCTC>T	10	102778027	102778032	TCTC	T	PDZD7	c.1348_1350del	NM_001195263.2	NP_001182192.1:p.(Glu450del)	NC_000010.10:g.102778030_102778032del	(Likely) benign	1 lab	0deb44facf
1:89046964 MISSING A>Alt too long to show for this DUP	1	89046964	89329763	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.89046966_89329763dup	VUS	1 lab	0ded4c44da
6:32040000 TNXB G>A	6	32040000	32040000	G	A	TNXB	c.4757C>T	NM_019105.8	NP_061978.6:p.(Thr1586Met)	NC_000006.11:g.32040000G>A	VUS	1 lab	0df4bbdb2a
19:54625247 PRPF31 C>G	19	54625247	54625247	C	G	PRPF31	c.247C>G	NM_015629.4	NP_056444.3:p.(Pro83Ala)	NC_000019.9:g.54625247C>G	VUS	1 lab	0df5e2c4b1
11:89531801 TRIM49 CAA>C	11	89531801	89531816	CAA	C	TRIM49	c.860-6_860-5del	NM_020358.2	NP_065091.1:p.?	NC_000011.9:g.89531815_89531816del	(Likely) benign	1 lab	0df6479da0
14:23894595 MYH7 C>T	14	23894595	23894595	C	T	MYH7	c.2319G>A	NM_000257.4	NP_000248.2:p.(Leu773=)	NC_000014.8:g.23894595C>T	(Likely) benign	1 lab	0dfd4af430
9:107593252 ABCA1 C>A	9	107593252	107593252	C	A	ABCA1	c.1846G>T	NM_005502.4	NP_005493.2:p.(Gly616Cys)	NC_000009.11:g.107593252C>A	VUS	1 lab	0dfd588bdf
12:14577143 ATF7IP T>C	12	14577143	14577143	T	C	ATF7IP	c.318T>C	NM_181352.2	NP_851997.1:p.(Asn106=)	NC_000012.11:g.14577143T>C	(Likely) benign	1 lab	0dfd88fad7
19:10254491 DNMT1 C>T	19	10254491	10254491	C	T	DNMT1	c.3067G>A	NM_001130823.3	NP_001124295.1:p.(Gly1023Ser)	NC_000019.9:g.10254491C>T	VUS	1 lab	0e0028f304
2:189872886 COL3A1 CG>C	2	189872886	189872887	CG	C	COL3A1	c.3525+19del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872887del	(Likely) benign	1 lab	0e01bb3a10
2:179486074 TTN G>T	2	179486074	179486074	G	T	TTN	c.45371C>A	NM_001267550.2	NP_001254479.2:p.(Ser15124Ter)	NC_000002.11:g.179486074G>T	(Likely) pathogenic	1 lab	0e0661ecd0
17:41246330 BRCA1 AT>A	17	41246330	41246333	AT	A	BRCA1	c.1217del	NM_007294.4	NP_009225.1:p.(Asn406MetfsTer4)	NC_000017.10:g.41246333del	(Likely) pathogenic	1 lab	0e06a9532b
1:236922823 ACTN2 C>G	1	236922823	236922823	C	G	ACTN2	c.2302-201C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922823C>G	(Likely) benign	1 lab	0e076b4fb4
9:107574928 ABCA1 T>C	9	107574928	107574928	T	C	ABCA1	c.3977A>G	NM_005502.4	NP_005493.2:p.(Gln1326Arg)	NC_000009.11:g.107574928T>C	(Likely) benign	1 lab	0e0892935c
19:17514789 MISSING Ref too long to show for this DEL>G	19	17514789	17516471	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.17514791_17516471del	VUS	1 lab	0e08f23860
4:22446621 ADGRA3 G>A	4	22446621	22446621	G	A	ADGRA3	c.681C>T	NM_145290.4	NP_660333.2:p.(Gly227=)	NC_000004.11:g.22446621G>A	(Likely) benign	1 lab	0e09cabfd2
17:39928024 JUP G>A	17	39928024	39928024	G	A	JUP	c.83C>T	NM_002230.4	NP_002221.1:p.(Ser28Leu)	NC_000017.10:g.39928024G>A	VUS	1 lab	0e0b234b3c
5:14479436 TRIO G>C	5	14479436	14479436	G	C	TRIO	c.6220G>C	NM_007118.4	NP_009049.2:p.(Glu2074Gln)	NC_000005.9:g.14479436G>C	VUS	1 lab	0e0bc4a6e1
10:55945033 PCDH15 G>GA	10	55945033	55945041	G	GA	PCDH15	c.1321-6dup	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55945041dup	(Likely) benign	1 lab	0e0ddf35a0
1:243507589 SDCCAG8 G>C	1	243507589	243507589	G	C	SDCCAG8	c.1429G>C	NM_006642.5	NP_006633.1:p.(Glu477Gln)	NC_000001.10:g.243507589G>C	(Likely) benign	1 lab	0e0dfc282d
X:54225078 WNK3 C>T	X	54225078	54225078	C	T	WNK3	c.5082G>A	NM_020922.5	NP_065973.2:p.(Pro1694=)	NC_000023.10:g.54225078C>T	(Likely) benign	1 lab	0e11e81e57
4:1807266 FGFR3 G>A	4	1807266	1807266	G	A	FGFR3	c.1535-20G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807266G>A	(Likely) benign	1 lab	0e13edd705
22:42610023 TCF20 G>C	22	42610023	42610023	G	C	TCF20	c.1289C>G	NM_005650.4	NP_005641.1:p.(Ser430Cys)	NC_000022.10:g.42610023G>C	VUS	1 lab	0e14eb1d97
X:70444072 GJB1 C>T	X	70444072	70444072	C	T	GJB1	c.515C>T	NM_000166.6	NP_000157.1:p.(Pro172Leu)	NC_000023.10:g.70444072C>T	(Likely) pathogenic	1 lab	0e16a0e3be
X:32663099 DMD G>C	X	32663099	32663099	G	C	DMD	c.1131C>G	NM_004006.3	NP_003997.2:p.(Asp377Glu)	NC_000023.10:g.32663099G>C	VUS	1 lab	0e1cc8d66d
21:38877745 DYRK1A C>T	21	38877745	38877745	C	T	DYRK1A	c.1372C>T	NM_130436.2	NP_569120.1:p.(Arg458Ter)	NC_000021.8:g.38877745C>T	(Likely) pathogenic	1 lab	0e1df89531
22:41924539 ACO2 C>T	22	41924539	41924539	C	T	ACO2	c.2265C>T	NM_001098.3	NP_001089.1:p.(Asn755=)	NC_000022.10:g.41924539C>T	(Likely) benign	1 lab	0e2099c47f
1:55525215 PCSK9 C>T	1	55525215	55525215	C	T	PCSK9	c.1560C>T	NM_174936.4	NP_777596.2:p.(Val520=)	NC_000001.10:g.55525215C>T	(Likely) benign	1 lab	0e23f1867e
22:46759929 CELSR1 C>T	22	46759929	46759929	C	T	CELSR1	c.8999G>A	NM_001378328.1	NP_001365257.1:p.(Arg3000His)	NC_000022.10:g.46759929C>T	(Likely) benign	1 lab	0e2714b1aa
20:10633519 JAG1 C>G	20	10633519	10633519	C	G	JAG1	c.756-273G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10633519C>G	(Likely) benign	1 lab	0e2ac5d843
15:77096985 SCAPER C>A	15	77096985	77096985	C	A	SCAPER	c.-504-11G>T	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.77096985C>A	(Likely) benign	1 lab	0e2f7ef012
1:66785060 MISSING A>Alt too long to show for this DUP	1	66785060	67124241	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.66785061_67124241dup	VUS	1 lab	0e707e498a
3:195510751 MUC4 G>T	3	195510751	195510751	G	T	MUC4	c.7700C>A	NM_018406.7	NP_060876.5:p.(Ser2567Tyr)	NC_000003.11:g.195510751G>T	(Likely) benign	1 lab	0e32a3e7db
7:81598298 CACNA2D1 A>T	7	81598298	81598298	A	T	CACNA2D1	c.2309-9T>A	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81598298A>T	(Likely) benign	1 lab	0e34b9bd24
7:91630629 AKAP9 G>A	7	91630629	91630629	G	A	AKAP9	c.1398G>A	NM_005751.5	NP_005742.4:p.(Arg466=)	NC_000007.13:g.91630629G>A	(Likely) benign	1 lab	0e34e968ac
16:904621 LMF1 T>G	16	904621	904621	T	G	LMF1	c.1535A>C	NM_001352020.1	NP_001338949.1:p.(Glu512Ala)	NC_000016.9:g.904621T>G	VUS	1 lab	0e37b86ffe
1:243736210 AKT3 CTT>C	1	243736210	243736225	CTT	C	AKT3	c.819+16_819+17del	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243736224_243736225del	(Likely) benign	1 lab	0e3edbf6f9
6:135611565 AHI1 A>G	6	135611565	135611565	A	G	AHI1	c.3584T>C	NM_001134831.2	NP_001128303.1:p.(Ile1195Thr)	NC_000006.11:g.135611565A>G	VUS	1 lab	0e422924fa
21:35821839 KCNE1 G>A	21	35821839	35821839	G	A	KCNE1	c.94C>T	NM_001127670.4	NP_001121142.1:p.(Arg32Cys)	NC_000021.8:g.35821839G>A	VUS	1 lab	0e478891c5
5:133944182 SAR1B T>G	5	133944182	133944182	T	G	SAR1B	c.360A>C	NM_001033503.3	NP_001028675.1:p.(Thr120=)	NC_000005.9:g.133944182T>G	(Likely) benign	1 lab	0e497851d5
15:90335784 ANPEP C>T	15	90335784	90335784	C	T	ANPEP	c.2259G>A	NM_001150.3	NP_001141.2:p.(Glu753=)	NC_000015.9:g.90335784C>T	(Likely) benign	1 lab	0e4b5cf362
20:57415769 GNAS A>T	20	57415769	57415769	A	T	GNAS	c.608A>T	NM_016592.5	NP_057676.1:p.(Asp203Val)	NC_000020.10:g.57415769A>T	VUS	1 lab	0e4b75fb07
6:169631463 THBS2 A>G	6	169631463	169631463	A	G	THBS2	c.2208T>C	NM_001381940.1	NP_001368869.1:p.(Leu736=)	NC_000006.11:g.169631463A>G	(Likely) benign	1 lab	0e4c8125f0
1:22970514 C1QC G>A	1	22970514	22970514	G	A	C1QC	c.-87+307G>A	NM_001347620.2	NP_001334549.1:p.?	NC_000001.10:g.22970514G>A	(Likely) benign	1 lab	0e4ebfaa77
2:238449071 MLPH C>T	2	238449071	238449071	C	T	MLPH	c.1185C>T	NM_024101.7	NP_077006.1:p.(Asn395=)	NC_000002.11:g.238449071C>T	(Likely) benign	1 lab	0e4f1ed008
9:100616712 FOXE1 C>A	9	100616712	100616712	C	A	FOXE1	c.516C>A	NM_004473.4	NP_004464.2:p.(Ala172=)	NC_000009.11:g.100616712C>A	(Likely) benign	1 lab	0e4ff88907
2:21245793 APOB G>A	2	21245793	21245793	G	A	APOB	c.2726C>T	NM_000384.3	NP_000375.3:p.(Ser909Leu)	NC_000002.11:g.21245793G>A	VUS	1 lab	0e5204be31
19:45412014 APOE G>A	19	45412014	45412014	G	A	APOE	c.461G>A	NM_000041.4	NP_000032.1:p.(Arg154His)	NC_000019.9:g.45412014G>A	(Likely) pathogenic	1 lab	0e52c85050
3:129694722 TRH CG>C	3	129694722	129694724	CG	C	TRH	c.65del	NM_007117.5	NP_009048.1:p.(Gly22AlafsTer13)	NC_000003.11:g.129694724del	VUS	1 lab	0e5588933c
2:47168724 TTC7A G>A	2	47168724	47168724	G	A	TTC7A	c.44G>A	NM_001288951.2	NP_001275880.1:p.(Ser15Asn)	NC_000002.11:g.47168724G>A	VUS	1 lab	0e565c3b29
20:57478634 GNAS G>A	20	57478634	57478634	G	A	GNAS	c.2235G>A	NM_080425.4	NP_536350.2:p.(Ala745=)	NC_000020.10:g.57478634G>A	(Likely) benign	1 lab	0e5725ccd0
3:49760475 GMPPB A>G	3	49760475	49760475	A	G	GMPPB	c.332T>C	NM_013334.4	NP_037466.3:p.(Val111Ala)	NC_000003.11:g.49760475A>G	VUS	1 lab	0e57e1dfb7
20:60737994 SS18L1 A>ACTC	20	60737994	60737997	A	ACTC	SS18L1	c.163+8_163+10dup	NM_001301778.2	NP_001288707.1:p.?	NC_000020.10:g.60737995_60737997dup	(Likely) benign	1 lab	0e5c04cee5
8:158048 MISSING Ref too long to show for this DEL>C	8	158048	6999220	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158049_6999220del	(Likely) pathogenic	1 lab	0e5fc92124
9:139395259 NOTCH1 G>A	9	139395259	139395259	G	A	NOTCH1	c.5679C>T	NM_017617.5	NP_060087.3:p.(Gly1893=)	NC_000009.11:g.139395259G>A	(Likely) benign	1 lab	0e60a67602
11:2869062 KCNQ1 C>T	11	2869062	2869062	C	T	KCNQ1	c.1860C>T	NM_000218.3	NP_000209.2:p.(His620=)	NC_000011.9:g.2869062C>T	(Likely) benign	1 lab	0e81f0e8c7
19:11216146 LDLR C>T	19	11216146	11216146	C	T	LDLR	c.564C>T	NM_000527.5	NP_000518.1:p.(Tyr188=)	NC_000019.9:g.11216146C>T	(Likely) benign	1 lab	0e62f5777f
X:100654225 GLA C>T	X	100654225	100654225	C	T	GLA	c.640-291G>A	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100654225C>T	(Likely) benign	1 lab	0e63204022
15:67457915 SMAD3 C>G	15	67457915	67457915	C	G	SMAD3	c.532+193C>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457915C>G	(Likely) benign	1 lab	0e63551498
18:48584855 SMAD4 A>ATT	18	48584855	48584871	A	ATT	SMAD4	c.904+44_904+45dup	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584870_48584871dup	(Likely) benign	1 lab	0e63b5c33f
11:47360328 MYBPC3 A>T	11	47360328	47360328	A	T	MYBPC3	c.2149-98T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360328A>T	(Likely) benign	1 lab	0e63c6771b
20:32031217 SNTA1 C>G	20	32031217	32031217	C	G	SNTA1	c.210G>C	NM_003098.3	NP_003089.1:p.(Pro70=)	NC_000020.10:g.32031217C>G	(Likely) benign	1 lab	0e641b8c8c
1:11272397 MTOR G>A	1	11272397	11272397	G	A	MTOR	c.3533C>T	NM_004958.4	NP_004949.1:p.(Ser1178Phe)	NC_000001.10:g.11272397G>A	VUS	1 lab	0e65e7920f
5:127800212 FBN2 C>T	5	127800212	127800212	C	T	FBN2	c.826+205G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800212C>T	(Likely) benign	1 lab	0e69070174
11:34938284 PDHX C>T	11	34938284	34938284	C	T	PDHX	c.82C>T	NM_003477.3	NP_003468.2:p.(Leu28=)	NC_000011.9:g.34938284C>T	VUS	1 lab	0e695a4a3f
18:47095867 LIPG G>A	18	47095867	47095867	G	A	LIPG	c.520G>A	NM_006033.4	NP_006024.1:p.(Val174Met)	NC_000018.9:g.47095867G>A	VUS	1 lab	0e6e1c6846
3:179143941 GNB4 A>G	3	179143941	179143941	A	G	GNB4	c.48T>C	NM_021629.4	NP_067642.1:p.(Asn16=)	NC_000003.11:g.179143941A>G	(Likely) benign	1 lab	0e6ffc3d58
4:114195795 ANK2 T>C	4	114195795	114195795	T	C	ANK2	c.1724T>C	NM_001386174.1	NP_001373103.1:p.(Leu575Ser)	NC_000004.11:g.114195795T>C	(Likely) benign	1 lab	0e7023f79b
3:119886854 GPR156 C>T	3	119886854	119886854	C	T	GPR156	c.1470G>A	NM_153002.3	NP_694547.2:p.(Lys490=)	NC_000003.11:g.119886854C>T	(Likely) benign	1 lab	0e702d1c9c
2:21910980 MISSING A>Alt too long to show for this DUP	2	21910980	21940050	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.21910982_21940050dup	VUS	1 lab	0e712b3462
2:239243116 MISSING A>Alt too long to show for this DUP	2	239243116	239336465	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.239243117_239336465dup	VUS	1 lab	0e72388efa
12:64891419 TBK1 A>T	12	64891419	64891419	A	T	TBK1	c.1960-9A>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891419A>T	(Likely) benign	1 lab	0e73320730
6:157150397 ARID1B C>T	6	157150397	157150397	C	T	ARID1B	c.1828C>T	NM_001371656.1	NP_001358585.1:p.(Gln610Ter)	NC_000006.11:g.157150397C>T	(Likely) pathogenic	1 lab	0e73f27030
12:57882792 MARS1 C>T	12	57882792	57882792	C	T	MARS1	c.110-10C>T	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57882792C>T	(Likely) benign	1 lab	0e7513bab0
10:28900760 WAC C>G	10	28900760	28900760	C	G	WAC	c.1346C>G	NM_016628.5	NP_057712.2:p.(Ser449Ter)	NC_000010.10:g.28900760C>G	(Likely) pathogenic	1 lab	0e75dfe183
1:3334515 PRDM16 C>A	1	3334515	3334515	C	A	PRDM16	c.2815C>A	NM_022114.4	NP_071397.3:p.(Leu939Ile)	NC_000001.10:g.3334515C>A	VUS	1 lab	0e7726fe12
8:134125758 TG C>T	8	134125758	134125758	C	T	TG	c.7665C>T	NM_003235.5	NP_003226.4:p.(Arg2555=)	NC_000008.10:g.134125758C>T	(Likely) benign	1 lab	0e7a041819
21:15672999 MISSING A>Alt too long to show for this DUP	21	15672999	15725877	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.15673000_15725877dup	VUS	1 lab	0e7ae7d8a5
10:92675401 ANKRD1 A>G	10	92675401	92675401	A	G	ANKRD1	c.751-3T>C	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675401A>G	(Likely) benign	1 lab	0e7c081c5a
17:15168476 PMP22 C>T	17	15168476	15168476	C	T	PMP22	c.-40G>A	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15168476C>T	(Likely) benign	1 lab	0e7fea908c
4:185074617 ENPP6 C>Alt too long to show for this DUP	4	185074617	185135554	C	Alt too long to show for this DUP	ENPP6	c.241+3182_421+89dup	NM_153343.4	NP_699174.1:p.?	NC_000004.11:g.185074622_185135554dup	VUS	1 lab	0e80733b92
19:15302865 NOTCH3 C>T	19	15302865	15302865	C	T	NOTCH3	c.585G>A	NM_000435.3	NP_000426.2:p.(Glu195=)	NC_000019.9:g.15302865C>T	(Likely) benign	1 lab	0e84566135
20:33591303 TRPC4AP G>A	20	33591303	33591303	G	A	TRPC4AP	c.2166C>T	NM_015638.3	NP_056453.1:p.(Pro722=)	NC_000020.10:g.33591303G>A	(Likely) benign	1 lab	0e84f80dd1
19:45856038 ERCC2 A>AC	19	45856038	45856039	A	AC	ERCC2	c.1867dup	NM_000400.4	NP_000391.1:p.(Val623GlyfsTer26)	NC_000019.9:g.45856039dup	(Likely) pathogenic	1 lab	0e862686b7
3:49679930 BSN C>T	3	49679930	49679930	C	T	BSN	c.863C>T	NM_003458.4	NP_003449.2:p.(Pro288Leu)	NC_000003.11:g.49679930C>T	(Likely) benign	1 lab	0e89133f06
14:23862997 MYH6 C>T	14	23862997	23862997	C	T	MYH6	c.2806G>A	NM_002471.4	NP_002462.2:p.(Ala936Thr)	NC_000014.8:g.23862997C>T	VUS	1 lab	0e8cc77afa
7:72633487 MISSING Ref too long to show for this DEL>C	7	72633487	74143060	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72633488_74143060del	(Likely) pathogenic	1 lab	0e92e48065
12:48374770 COL2A1 T>G	12	48374770	48374770	T	G	COL2A1	c.2464-19A>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48374770T>G	(Likely) benign	1 lab	0e93d83d61
3:15686120 BTD C>A	3	15686120	15686120	C	A	BTD	c.697C>A	NM_001281723.3	NP_001268652.2:p.(Pro233Thr)	NC_000003.11:g.15686120C>A	VUS	1 lab	0e94c1a13c
15:63353933 TPM1 A>C	15	63353933	63353933	A	C	TPM1	c.585A>C	NM_001018004.2	NP_001018004.1:p.(Glu195Asp)	NC_000015.9:g.63353933A>C	VUS	1 lab	0e95ccb942
9:137664573 COL5A1 G>A	9	137664573	137664573	G	A	COL5A1	c.2287-63G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664573G>A	(Likely) benign	1 lab	0e974397c8
3:38927706 SCN11A G>T	3	38927706	38927706	G	T	SCN11A	c.2859C>A	NM_001349253.2	NP_001336182.1:p.(Asn953Lys)	NC_000003.11:g.38927706G>T	VUS	1 lab	0e98f9b3b6
16:46741597 MYLK3 G>A	16	46741597	46741597	G	A	MYLK3	c.*19C>T	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46741597G>A	(Likely) benign	1 lab	0e9bcbf6a9
15:67358594 SMAD3 G>T	15	67358594	67358594	G	T	SMAD3	c.102G>T	NM_005902.4	NP_005893.1:p.(Ala34=)	NC_000015.9:g.67358594G>T	(Likely) benign	1 lab	0e9d1e2562
6:7580563 DSP C>T	6	7580563	7580563	C	T	DSP	c.4140C>T	NM_004415.4	NP_004406.2:p.(Leu1380=)	NC_000006.11:g.7580563C>T	(Likely) benign	1 lab	0e9e69ea44
16:17232275 XYLT1 G>GTGCT	16	17232275	17232281	G	GTGCT	XYLT1	c.1697_1700dup	NM_022166.4	NP_071449.1:p.(His567GlnfsTer13)	NC_000016.9:g.17232278_17232281dup	(Likely) pathogenic	1 lab	0e9ea6aebd
6:80881084 BCKDHB C>CTAAAATACTT	6	80881084	80881096	C	CTAAAATACTT	BCKDHB	c.722_731dup	NM_183050.4	NP_898871.1:p.(Tyr244Ter)	NC_000006.11:g.80881087_80881096dup	(Likely) pathogenic	1 lab	0ea06f75cc
22:22326279 TOP3B G>A	22	22326279	22326279	G	A	TOP3B	c.354C>T	NM_003935.5	NP_003926.1:p.(Cys118=)	NC_000022.10:g.22326279G>A	(Likely) benign	1 lab	0ea5853f9a
2:44099244 ABCG8 C>T	2	44099244	44099244	C	T	ABCG8	c.1094C>T	NM_022437.3	NP_071882.1:p.(Thr365Met)	NC_000002.11:g.44099244C>T	VUS	1 lab	0eaab65039
10:85972970 CDHR1 C>T	10	85972970	85972970	C	T	CDHR1	c.1906C>T	NM_033100.4	NP_149091.1:p.(Arg636Cys)	NC_000010.10:g.85972970C>T	VUS	1 lab	0eaf222036
9:107576718 ABCA1 A>G	9	107576718	107576718	A	G	ABCA1	c.3777T>C	NM_005502.4	NP_005493.2:p.(Ala1259=)	NC_000009.11:g.107576718A>G	(Likely) benign	1 lab	0eb008f38f
11:116701987 APOC3 C>T	11	116701987	116701987	C	T	APOC3	c.179+375C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701987C>T	(Likely) benign	1 lab	0eb1372923
3:38888764 SCN11A G>A	3	38888764	38888764	G	A	SCN11A	c.4797C>T	NM_014139.3	NP_054858.2:p.(Tyr1599=)	NC_000003.11:g.38888764G>A	(Likely) benign	1 lab	0eb24a35ec
2:51091939 MISSING Ref too long to show for this DEL>C	2	51091939	51436422	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.51091940_51436422del	(Likely) pathogenic	1 lab	0eb4c80051
18:34238091 FHOD3 C>G	18	34238091	34238091	C	G	FHOD3	c.1250C>G	NM_025135.5	NP_079411.2:p.(Ser417Cys)	NC_000018.9:g.34238091C>G	VUS	1 lab	0eb87d85d4
10:92678870 ANKRD1 CA>C	10	92678870	92678879	CA	C	ANKRD1	c.345+17del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678879del	(Likely) benign	1 lab	0eb91fbde0
19:8191401 FBN3 G>A	19	8191401	8191401	G	A	FBN3	c.2505C>T	NM_032447.5	NP_115823.3:p.(Cys835=)	NC_000019.9:g.8191401G>A	(Likely) benign	1 lab	0eb9913db1
5:149247310 PDE6A G>A	5	149247310	149247310	G	A	PDE6A	c.2252C>T	NM_000440.3	NP_000431.2:p.(Thr751Met)	NC_000005.9:g.149247310G>A	VUS	1 lab	0eba3baf97
4:114286348 ANK2 T>A	4	114286348	114286348	T	A	ANK2	c.11032+10T>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286348T>A	(Likely) benign	1 lab	0ebb211bc6
2:21236169 APOB G>A	2	21236169	21236169	G	A	APOB	c.4079C>T	NM_000384.3	NP_000375.3:p.(Thr1360Met)	NC_000002.11:g.21236169G>A	VUS	1 lab	0ec005df71
X:122441616 GRIA3 G>Alt too long to show for this DUP	X	122441616	122445178	G	Alt too long to show for this DUP	GRIA3	c.509-18260_509-14699dup	NM_007325.5	NP_015564.5:p.?	NC_000023.10:g.122441617_122445178dup	VUS	1 lab	0ec1851ed3
20:10620507 JAG1 G>A	20	10620507	10620507	G	A	JAG1	c.3296C>T	NM_000214.3	NP_000205.1:p.(Pro1099Leu)	NC_000020.10:g.10620507G>A	(Likely) benign	1 lab	0ec3fd9dc6
19:11216273 LDLR T>C	19	11216273	11216273	T	C	LDLR	c.691T>C	NM_000527.5	NP_000518.1:p.(Cys231Arg)	NC_000019.9:g.11216273T>C	(Likely) pathogenic	1 lab	0ec4f889eb
1:55505646 PCSK9 C>T	1	55505646	55505646	C	T	PCSK9	c.136C>T	NM_174936.4	NP_777596.2:p.(Arg46Cys)	NC_000001.10:g.55505646C>T	VUS	1 lab	0ed013b3e8
19:50909704 POLD1 A>G	19	50909704	50909704	A	G	POLD1	c.1424A>G	NM_001256849.1	NP_001243778.1:p.(Asn475Ser)	NC_000019.9:g.50909704A>G	VUS	1 lab	0ed55ac0a1
10:68280455 CTNNA3 C>T	10	68280455	68280455	C	T	CTNNA3	c.1451G>A	NM_013266.4	NP_037398.2:p.(Arg484His)	NC_000010.10:g.68280455C>T	VUS	1 lab	0ed731f695
1:236924732 ACTN2 C>CAT	1	236924732	236924733	C	CAT	ACTN2	c.2526+259_2526+260insAT	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924732_236924733insAT	(Likely) benign	1 lab	0ed85081d1
7:151711772 MISSING G>Alt too long to show for this DUP	7	151711772	152032715	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151711773_152032715dup	VUS	1 lab	0ede039691
10:51485976 TIMM23B C>T	10	51485976	51485976	C	T	TIMM23B	c.514+98213C>T	NM_001290117.2	NP_001277046.1:p.?	NC_000010.10:g.51485976C>T	(Likely) benign	1 lab	0ee047e03e
17:75484781 SEPTIN9 T>C	17	75484781	75484781	T	C	SEPTIN9	c.1071-28T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484781T>C	(Likely) benign	1 lab	0ee2a236d8
12:122261462 SETD1B G>A	12	122261462	122261462	G	A	SETD1B	c.4977G>A	NM_001353345.2	NP_001340274.1:p.(Ser1659=)	NC_000012.11:g.122261462G>A	(Likely) benign	1 lab	0ee5690317
2:44100993 ABCG8 A>G	2	44100993	44100993	A	G	ABCG8	c.1279A>G	NM_022437.3	NP_071882.1:p.(Met427Val)	NC_000002.11:g.44100993A>G	VUS	1 lab	0ee5e2f159
4:55962433 KDR A>G	4	55962433	55962433	A	G	KDR	c.2691T>C	NM_002253.3	NP_002244.1:p.(Asn897=)	NC_000004.11:g.55962433A>G	(Likely) benign	1 lab	0ee5e9fe02
16:11775646 MISSING Ref too long to show for this DEL>T	16	11775646	11842068	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.11775647_11842068del	VUS	1 lab	0ee714d5f3
16:22358322 CDR2 C>Alt too long to show for this DUP	16	22358322	22380197	C	Alt too long to show for this DUP	CDR2	c.80-3862_1328dup	NM_001802.2	NP_001793.1:p.?	NC_000016.9:g.22358323_22380197dup	VUS	1 lab	0ee8ff1637
16:14026162 ERCC4 C>T	16	14026162	14026162	C	T	ERCC4	c.1102+20C>T	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14026162C>T	(Likely) benign	1 lab	0ee922e466
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	0eea42bb40
6:138389584 MISSING Ref too long to show for this DEL>A	6	138389584	139912697	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.138389585_139912697del	VUS	1 lab	0eee966e6d
1:26393974 TRIM63 C>T	1	26393974	26393974	C	T	TRIM63	c.12G>A	NM_032588.4	NP_115977.2:p.(Lys4=)	NC_000001.10:g.26393974C>T	(Likely) benign	1 lab	0eee9d0863
15:85383932 ALPK3 G>A	15	85383932	85383932	G	A	ALPK3	c.1422G>A	NM_020778.5	NP_065829.4:p.(Pro474=)	NC_000015.9:g.85383932G>A	(Likely) benign	1 lab	0eef395293
X:118975145 UPF3B C>T	X	118975145	118975145	C	T	UPF3B	c.701G>A	NM_080632.3	NP_542199.1:p.(Arg234Lys)	NC_000023.10:g.118975145C>T	VUS	1 lab	0ef12b9da6
14:76259249 TTLL5 G>A	14	76259249	76259249	G	A	TTLL5	c.2987-10G>A	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76259249G>A	(Likely) benign	1 lab	0ef715b6dd
10:53822288 PRKG1 T>C	10	53822288	53822288	T	C	PRKG1	c.796-9T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53822288T>C	(Likely) benign	1 lab	0ef8951f2b
7:92764489 SAMD9L C>T	7	92764489	92764489	C	T	SAMD9L	c.796G>A	NM_152703.5	NP_689916.2:p.(Val266Ile)	NC_000007.13:g.92764489C>T	(Likely) benign	1 lab	0ef8d5beb4
7:70188374 AUTS2 Ref too long to show for this DEL>T	7	70188374	70236724	Ref too long to show for this DEL	T	AUTS2	c.742+24769_1830+94del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70188375_70236724del	VUS	1 lab	0ef8df821c
19:10291471 DNMT1 T>C	19	10291471	10291471	T	C	DNMT1	c.208A>G	NM_001130823.3	NP_001124295.1:p.(Lys70Glu)	NC_000019.9:g.10291471T>C	VUS	1 lab	0efb2003c5
12:19403931 MISSING G>Alt too long to show for this DUP	12	19403931	19621407	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.19403932_19621407dup	VUS	1 lab	0efb7863cd
1:55527094 PCSK9 G>A	1	55527094	55527094	G	A	PCSK9	c.1728G>A	NM_174936.4	NP_777596.2:p.(Pro576=)	NC_000001.10:g.55527094G>A	(Likely) benign	1 lab	0efd8902d6
19:45410164 APOE G>C	19	45410164	45410164	G	C	APOE	c.43+240G>C	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45410164G>C	(Likely) benign	1 lab	0efde5662b
13:31789169 B3GLCT CTT>C	13	31789169	31789183	CTT	C	B3GLCT	c.71-6_71-5del	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31789182_31789183del	(Likely) benign	1 lab	0f02922046
12:21375335 SLCO1B1 T>A	12	21375335	21375335	T	A	SLCO1B1	c.1747+37T>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375335T>A	(Likely) benign	1 lab	0f02969eed
5:178541162 ADAMTS2 G>A	5	178541162	178541162	G	A	ADAMTS2	c.3342C>T	NM_014244.5	NP_055059.2:p.(Asn1114=)	NC_000005.9:g.178541162G>A	(Likely) benign	1 lab	0f036238a3
X:70443805 GJB1 T>G	X	70443805	70443805	T	G	GJB1	c.248T>G	NM_000166.6	NP_000157.1:p.(Leu83Arg)	NC_000023.10:g.70443805T>G	(Likely) pathogenic	1 lab	0f03851f63
18:29104701 DSG2 A>G	18	29104701	29104701	A	G	DSG2	c.864A>G	NM_001943.5	NP_001934.2:p.(Val288=)	NC_000018.9:g.29104701A>G	(Likely) benign	1 lab	0f038d9edf
10:75877941 VCL C>G	10	75877941	75877941	C	G	VCL	c.*14C>G	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75877941C>G	(Likely) benign	1 lab	0f043cd316
2:203395543 BMPR2 C>T	2	203395543	203395543	C	T	BMPR2	c.994C>T	NM_001204.7	NP_001195.2:p.(Arg332Ter)	NC_000002.11:g.203395543C>T	(Likely) pathogenic	1 lab	0f045c0812
10:126691577 CTBP2 T>C	10	126691577	126691577	T	C	CTBP2	c.1930A>G	NM_022802.3	NP_073713.2:p.(Ile644Val)	NC_000010.10:g.126691577T>C	(Likely) benign	1 lab	0f047ded1a
10:69299407 CTNNA3 C>A	10	69299407	69299407	C	A	CTNNA3	c.313G>T	NM_013266.4	NP_037398.2:p.(Ala105Ser)	NC_000010.10:g.69299407C>A	VUS	1 lab	0f0557b6b8
19:11240226 LDLR A>G	19	11240226	11240226	A	G	LDLR	c.2427A>G	NM_000527.5	NP_000518.1:p.(Leu809=)	NC_000019.9:g.11240226A>G	(Likely) benign	1 lab	0f05dc85f0
5:138266342 CTNNA1 C>T	5	138266342	138266342	C	T	CTNNA1	c.2191C>T	NM_001903.5	NP_001894.2:p.(Arg731Ter)	NC_000005.9:g.138266342C>T	(Likely) pathogenic	1 lab	0f19dbdd71
11:47354369 MYBPC3 T>C	11	47354369	47354369	T	C	MYBPC3	c.3486A>G	NM_000256.3	NP_000247.2:p.(Arg1162=)	NC_000011.9:g.47354369T>C	(Likely) benign	1 lab	0f0a4446af
12:21329790 SLCO1B1 T>C	12	21329790	21329790	T	C	SLCO1B1	c.440T>C	NM_006446.5	NP_006437.3:p.(Ile147Thr)	NC_000012.11:g.21329790T>C	(Likely) benign	1 lab	0f0e84627f
4:17506042 QDPR G>A	4	17506042	17506042	G	A	QDPR	c.255C>T	NM_000320.3	NP_000311.2:p.(Cys85=)	NC_000004.11:g.17506042G>A	(Likely) benign	1 lab	0f0f7dcc4e
13:100637714 ZIC2 AGCG>A	13	100637714	100637728	AGCG	A	ZIC2	c.1389_1391del	NM_007129.5	NP_009060.2:p.(Ala470del)	NC_000013.10:g.100637726_100637728del	(Likely) benign	1 lab	0f13875947
7:100420010 EPHB4 G>A	7	100420010	100420010	G	A	EPHB4	c.691C>T	NM_004444.5	NP_004435.3:p.(Pro231Ser)	NC_000007.13:g.100420010G>A	(Likely) benign	1 lab	0f150220b0
4:114290688 ANK2 A>G	4	114290688	114290688	A	G	ANK2	c.11337A>G	NM_001148.6	NP_001139.3:p.(Thr3779=)	NC_000004.11:g.114290688A>G	(Likely) benign	1 lab	0f15e4f53e
2:179584940 TTN T>A	2	179584940	179584940	T	A	TTN	c.23429A>T	NM_001267550.2	NP_001254479.2:p.(Asp7810Val)	NC_000002.11:g.179584940T>A	VUS	1 lab	0f185b5fca
3:286098 CHL1 C>Alt too long to show for this DUP	3	286098	349559	C	Alt too long to show for this DUP	CHL1	c.-174-196_-94-11807dup	NM_006614.4	NP_006605.2:p.?	NC_000003.11:g.286100_349559dup	VUS	1 lab	0f1b5008f0
2:179477645 TTN C>T	2	179477645	179477645	C	T	TTN	c.49803G>A	NM_001267550.2	NP_001254479.2:p.(Val16601=)	NC_000002.11:g.179477645C>T	(Likely) benign	1 lab	0f1c3ccef2
12:2016639 CACNA2D4 C>G	12	2016639	2016639	C	G	CACNA2D4	c.748G>C	NM_172364.5	NP_758952.4:p.(Gly250Arg)	NC_000012.11:g.2016639C>G	(Likely) benign	1 lab	0f1cf23dcf
12:49375371 WNT1 A>T	12	49375371	49375371	A	T	WNT1	c.1061A>T	NM_005430.4	NP_005421.1:p.(His354Leu)	NC_000012.11:g.49375371A>T	VUS	1 lab	0f1dd2e3cc
15:73615069 HCN4 G>T	15	73615069	73615069	G	T	HCN4	c.3365C>A	NM_005477.3	NP_005468.1:p.(Ala1122Asp)	NC_000015.9:g.73615069G>T	VUS	1 lab	0f214c4d74
1:24288193 PNRC2 G>C	1	24288193	24288193	G	C	PNRC2	c.246G>C	NM_017761.4	NP_060231.1:p.(Arg82Ser)	NC_000001.10:g.24288193G>C	(Likely) benign	1 lab	0f23da7d95
21:47535787 COL6A2 G>A	21	47535787	47535787	G	A	COL6A2	c.803G>A	NM_058175.3	NP_478055.2:p.(Gly268Asp)	NC_000021.8:g.47535787G>A	(Likely) pathogenic	1 lab	0f24e6ef63
8:19819328 LPL T>C	8	19819328	19819328	T	C	LPL	c.1323-298T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819328T>C	(Likely) benign	1 lab	0f25068059
5:82836776 VCAN G>C	5	82836776	82836776	G	C	VCAN	c.7954G>C	NM_004385.5	NP_004376.2:p.(Asp2652His)	NC_000005.9:g.82836776G>C	(Likely) benign	1 lab	0f2561b5a3
1:6145273 KCNAB2 G>A	1	6145273	6145273	G	A	KCNAB2	c.390G>A	NM_001199862.2	NP_001186791.1:p.(Val130=)	NC_000001.10:g.6145273G>A	(Likely) benign	1 lab	0f275d397e
16:75675641 KARS1 G>A	16	75675641	75675641	G	A	KARS1	c.147-20C>T	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75675641G>A	(Likely) benign	1 lab	0f2a5fd491
14:23853903 MYH6 C>T	14	23853903	23853903	C	T	MYH6	c.5313G>A	NM_002471.4	NP_002462.2:p.(Leu1771=)	NC_000014.8:g.23853903C>T	(Likely) benign	1 lab	0f2c1beb44
1:55509582 PCSK9 G>C	1	55509582	55509582	G	C	PCSK9	c.274G>C	NM_174936.4	NP_777596.2:p.(Glu92Gln)	NC_000001.10:g.55509582G>C	VUS	1 lab	0ffc17a669
21:47533945 COL6A2 A>G	21	47533945	47533945	A	G	COL6A2	c.759A>G	NM_058175.3	NP_478055.2:p.(Glu253=)	NC_000021.8:g.47533945A>G	VUS	1 lab	0f2e53c11c
X:150568542 MISSING A>Alt too long to show for this DUP	X	150568542	150649691	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150568544_150649691dup	VUS	1 lab	0f2eae5ba7
17:40766283 TUBG1 C>A	17	40766283	40766283	C	A	TUBG1	c.849C>A	NM_001070.5	NP_001061.2:p.(Ala283=)	NC_000017.10:g.40766283C>A	(Likely) benign	1 lab	0f2f36216a
1:26386771 TRIM63 G>A	1	26386771	26386771	G	A	TRIM63	c.583C>T	NM_032588.4	NP_115977.2:p.(Arg195Cys)	NC_000001.10:g.26386771G>A	VUS	1 lab	0f307c74ae
2:21233085 APOB G>A	2	21233085	21233085	G	A	APOB	c.6655C>T	NM_000384.3	NP_000375.3:p.(Arg2219Cys)	NC_000002.11:g.21233085G>A	(Likely) benign	1 lab	0f31563f58
22:21798703 MISSING Ref too long to show for this DEL>G	22	21798703	22901591	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.21798705_22901591del	(Likely) pathogenic	1 lab	0f327d8bef
10:126691605 CTBP2 C>A	10	126691605	126691605	C	A	CTBP2	c.1902G>T	NM_022802.3	NP_073713.2:p.(Lys634Asn)	NC_000010.10:g.126691605C>A	(Likely) benign	1 lab	0f32ee9892
6:65146057 EYS A>G	6	65146057	65146057	A	G	EYS	c.5927+10T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65146057A>G	(Likely) benign	1 lab	0f3773acf0
2:179500811 TTN G>A	2	179500811	179500811	G	A	TTN	c.41487C>T	NM_001267550.2	NP_001254479.2:p.(Gly13829=)	NC_000002.11:g.179500811G>A	(Likely) benign	1 lab	0f37faf8fc
18:25727760 CDH2 GA>G	18	25727760	25727774	GA	G	CDH2	c.61-13del	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25727774del	(Likely) benign	1 lab	0f3b3f2f01
4:100513027 MTTP TTGTG>T	4	100513027	100513045	TTGTG	T	MTTP	c.758+95_758+98del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100513042_100513045del	(Likely) benign	1 lab	0f406b4476
12:50498492 GPD1 G>A	12	50498492	50498492	G	A	GPD1	c.177G>A	NM_005276.4	NP_005267.2:p.(Glu59=)	NC_000012.11:g.50498492G>A	(Likely) benign	1 lab	0f42793401
2:179412420 TTN TG>T	2	179412420	179412422	TG	T	TTN	c.93932del	NM_001267550.2	NP_001254479.2:p.(Pro31311GlnfsTer2)	NC_000002.11:g.179412422del	(Likely) pathogenic	1 lab	0f4684ecdf
12:52093375 SCN8A C>T	12	52093375	52093375	C	T	SCN8A	c.728C>T	NM_014191.4	NP_055006.1:p.(Ala243Val)	NC_000012.11:g.52093375C>T	VUS	1 lab	0f482b6361
6:31324492 HLA-B GC>G	6	31324492	31324493	GC	G	HLA-B	c.315del	NM_005514.8	NP_005505.2:p.(Arg106AlafsTer45)	NC_000006.11:g.31324493del	(Likely) benign	1 lab	0f496cfbd3
3:30730042 TGFBR2 C>T	3	30730042	30730042	C	T	TGFBR2	c.1599+39C>T	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30730042C>T	(Likely) benign	1 lab	0f4c80efa7
12:119631624 HSPB8 C>T	12	119631624	119631624	C	T	HSPB8	c.552C>T	NM_014365.3	NP_055180.1:p.(Asn184=)	NC_000012.11:g.119631624C>T	(Likely) benign	1 lab	0f50827207
X:70443795 GJB1 C>T	X	70443795	70443795	C	T	GJB1	c.238C>T	NM_000166.6	NP_000157.1:p.(Gln80Ter)	NC_000023.10:g.70443795C>T	(Likely) pathogenic	1 lab	0f5213a017
X:18537409 CDKL5 Ref too long to show for this DEL>A	X	18537409	18568707	Ref too long to show for this DEL	A	CDKL5	c.99+8438_100-13890del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18537412_18568707del	VUS	1 lab	0f539a93f7
16:90001996 TUBB3 G>A	16	90001996	90001996	G	A	TUBB3	c.921G>A	NM_001197181.2	NP_001184110.1:p.(Lys307=)	NC_000016.9:g.90001996G>A	(Likely) benign	1 lab	0f545d4edf
9:27036487 IFT74 C>T	9	27036487	27036487	C	T	IFT74	c.1094C>T	NM_001099224.3	NP_001092694.1:p.(Thr365Ile)	NC_000009.11:g.27036487C>T	(Likely) benign	1 lab	0f5545d639
17:48272659 COL1A1 G>A	17	48272659	48272659	G	A	COL1A1	c.1233C>T	NM_000088.4	NP_000079.2:p.(Phe411=)	NC_000017.10:g.48272659G>A	(Likely) benign	1 lab	0f5df63352
7:73477385 ELN A>C	7	73477385	73477385	A	C	ELN	c.1787-98A>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73477385A>C	(Likely) benign	1 lab	0f5fbe02f0
1:66067364 LEPR T>C	1	66067364	66067364	T	C	LEPR	c.1284T>C	NM_001003679.3	NP_001003679.1:p.(Ile428=)	NC_000001.10:g.66067364T>C	(Likely) benign	1 lab	0f6550f633
11:119210455 C1QTNF5 G>T	11	119210455	119210455	G	T	C1QTNF5	c.318C>A	NM_015645.5	NP_056460.1:p.(Phe106Leu)	NC_000011.9:g.119210455G>T	VUS	1 lab	0f6bdd0667
17:70117952 SOX9 C>T	17	70117952	70117952	C	T	SOX9	c.420C>T	NM_000346.4	NP_000337.1:p.(Gly140=)	NC_000017.10:g.70117952C>T	VUS	1 lab	0f7131687d
2:179415780 TTN T>C	2	179415780	179415780	T	C	TTN	c.91478A>G	NM_001267550.2	NP_001254479.2:p.(Glu30493Gly)	NC_000002.11:g.179415780T>C	VUS	1 lab	0f715cedf0
1:66058456 LEPR A>G	1	66058456	66058456	A	G	LEPR	c.611A>G	NM_001003679.3	NP_001003679.1:p.(Lys204Arg)	NC_000001.10:g.66058456A>G	(Likely) benign	1 lab	0f728f7aff
7:150642486 KCNH2 G>C	7	150642486	150642486	G	C	KCNH2	c.3447C>G	NM_000238.4	NP_000229.1:p.(Pro1149=)	NC_000007.13:g.150642486G>C	(Likely) benign	1 lab	0f74d57b32
16:28573523 MISSING G>Alt too long to show for this DUP	16	28573523	28639619	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.28573524_28639619dup	VUS	1 lab	0f7605928e
11:117267795 CEP164 C>T	11	117267795	117267795	C	T	CEP164	c.3279-12C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117267795C>T	(Likely) benign	1 lab	0f76c4b722
2:179435741 TTN C>T	2	179435741	179435741	C	T	TTN	c.75118G>A	NM_001267550.2	NP_001254479.2:p.(Gly25040Ser)	NC_000002.11:g.179435741C>T	VUS	1 lab	0f78fbf663
19:55672492 DNAAF3 A>C	19	55672492	55672492	A	C	DNAAF3	c.1057T>G	NM_001256714.1	NP_001243643.1:p.(Phe353Val)	NC_000019.9:g.55672492A>C	VUS	1 lab	0f7b7efedc
X:154118642 MISSING Ref too long to show for this DEL>T	X	154118642	154564991	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.154118643_154564991del	VUS	1 lab	0f85aeaa67
10:76780910 KAT6B T>A	10	76780910	76780910	T	A	KAT6B	c.2888T>A	NM_012330.4	NP_036462.2:p.(Leu963Ter)	NC_000010.10:g.76780910T>A	(Likely) pathogenic	1 lab	0f8692fd00
14:105178857 INF2 C>T	14	105178857	105178857	C	T	INF2	c.2577C>T	NM_001031714.4	NP_001026884.3:p.(Ala859=)	NC_000014.8:g.105178857C>T	(Likely) benign	1 lab	0f87cd5afe
6:100911314 SIM1 T>A	6	100911314	100911314	T	A	SIM1	c.31A>T	NM_005068.3	NP_005059.2:p.(Thr11Ser)	NC_000006.11:g.100911314T>A	VUS	1 lab	0f8892b176
6:170342686 MISSING C>Alt too long to show for this DUP	6	170342686	170578298	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.170342688_170578298dup	VUS	1 lab	0f8967bb6d
2:21232714 APOB A>G	2	21232714	21232714	A	G	APOB	c.7026T>C	NM_000384.3	NP_000375.3:p.(His2342=)	NC_000002.11:g.21232714A>G	(Likely) benign	1 lab	0f897f0eab
19:11242496 LDLR G>A	19	11242496	11242496	G	A	LDLR	c.*504G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242496G>A	(Likely) benign	1 lab	0f8bf91c0c
19:10097443 COL5A3 T>TAA	19	10097443	10097454	T	TAA	COL5A3	c.2146-11_2146-10dup	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10097453_10097454dup	(Likely) benign	1 lab	0f8d292ffb
9:137708004 COL5A1 T>C	9	137708004	137708004	T	C	COL5A1	c.4122+170T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137708004T>C	(Likely) benign	1 lab	0f8d6d7393
17:3660323 ITGAE Ref too long to show for this DEL>C	17	3660323	3686003	Ref too long to show for this DEL	C	ITGAE	c.35-5048_1125del	NM_002208.5	NP_002199.3:p.?	NC_000017.10:g.3660325_3686003del	VUS	1 lab	0f90604b87
2:27702903 IFT172 C>T	2	27702903	27702903	C	T	IFT172	c.899G>A	NM_015662.3	NP_056477.1:p.(Arg300Gln)	NC_000002.11:g.27702903C>T	(Likely) benign	1 lab	0f954b79a6
8:19819647 LPL G>A	8	19819647	19819647	G	A	LPL	c.1344G>A	NM_000237.3	NP_000228.1:p.(Glu448=)	NC_000008.10:g.19819647G>A	(Likely) benign	1 lab	0f965d969e
X:118603742 SLC25A5 A>C	X	118603742	118603742	A	C	SLC25A5	c.230A>C	NM_001152.5	NP_001143.2:p.(Asn77Thr)	NC_000023.10:g.118603742A>C	(Likely) benign	1 lab	0f99e20940
2:179605548 TTN T>C	2	179605548	179605548	T	C	TTN	c.12412A>G	NM_001267550.2	NP_001254479.2:p.(Ile4138Val)	NC_000002.11:g.179605548T>C	VUS	1 lab	0f9a193294
1:237955536 RYR2 C>T	1	237955536	237955536	C	T	RYR2	c.13695C>T	NM_001035.3	NP_001026.2:p.(Ser4565=)	NC_000001.10:g.237955536C>T	(Likely) benign	1 lab	0f9a51c210
11:68131388 LRP5 T>C	11	68131388	68131388	T	C	LRP5	c.860T>C	NM_002335.4	NP_002326.2:p.(Leu287Pro)	NC_000011.9:g.68131388T>C	(Likely) pathogenic	1 lab	0f9b543e43
17:48273816 COL1A1 C>A	17	48273816	48273816	C	A	COL1A1	c.903+29G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273816C>A	(Likely) benign	1 lab	0fa0e82298
15:48797208 FBN1 T>C	15	48797208	48797208	T	C	FBN1	c.1960+14A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48797208T>C	(Likely) benign	1 lab	0fa1075fb0
7:128486515 FLNC C>T	7	128486515	128486515	C	T	FLNC	c.4125C>T	NM_001458.5	NP_001449.3:p.(Thr1375=)	NC_000007.13:g.128486515C>T	(Likely) benign	1 lab	0fa2615594
14:58927785 KIAA0586 C>T	14	58927785	58927785	C	T	KIAA0586	c.2125C>T	NM_001244189.2	NP_001231118.1:p.(Arg709Ter)	NC_000014.8:g.58927785C>T	(Likely) pathogenic	1 lab	0fa3265d3b
2:179398852 TTN G>A	2	179398852	179398852	G	A	TTN	c.102490C>T	NM_001267550.2	NP_001254479.2:p.(Gln34164Ter)	NC_000002.11:g.179398852G>A	(Likely) pathogenic	1 lab	0fa43a7fbb
2:167137081 SCN9A C>T	2	167137081	167137081	C	T	SCN9A	c.2096G>A	NM_002977.3	NP_002968.1:p.(Cys699Tyr)	NC_000002.11:g.167137081C>T	VUS	1 lab	0fa5034f1c
6:17669262 NUP153 G>GA	6	17669262	17669276	G	GA	NUP153	c.1015-4dup	NM_001278209.2	NP_001265138.1:p.?	NC_000006.11:g.17669276dup	(Likely) benign	1 lab	0fa55cf286
3:25666266 TOP2B T>C	3	25666266	25666266	T	C	TOP2B	c.2238A>G	NM_001068.3	NP_001059.2:p.(Leu746=)	NC_000003.11:g.25666266T>C	(Likely) benign	1 lab	0fab2de8fb
14:23869554 MYH6 C>T	14	23869554	23869554	C	T	MYH6	c.1492G>A	NM_002471.4	NP_002462.2:p.(Glu498Lys)	NC_000014.8:g.23869554C>T	VUS	1 lab	0fab8387d2
2:25065134 ADCY3 G>A	2	25065134	25065134	G	A	ADCY3	c.945C>T	NM_004036.5	NP_004027.2:p.(His315=)	NC_000002.11:g.25065134G>A	(Likely) benign	1 lab	0fac05754d
2:220290368 DES G>A	2	220290368	220290368	G	A	DES	c.1289-17G>A	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220290368G>A	(Likely) benign	1 lab	0fb1c7352b
2:21237544 APOB G>A	2	21237544	21237544	G	A	APOB	c.3697-79C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237544G>A	(Likely) benign	1 lab	0fb8be6349
15:44949329 SPG11 T>A	15	44949329	44949329	T	A	SPG11	c.833A>T	NM_025137.4	NP_079413.3:p.(Asn278Ile)	NC_000015.9:g.44949329T>A	VUS	1 lab	0fba883c2b
16:24124333 PRKCB T>C	16	24124333	24124333	T	C	PRKCB	c.861T>C	NM_002738.7	NP_002729.2:p.(Asn287=)	NC_000016.9:g.24124333T>C	(Likely) benign	1 lab	0fbaec99c8
10:75865130 VCL T>C	10	75865130	75865130	T	C	VCL	c.2434+19T>C	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75865130T>C	(Likely) benign	1 lab	0fbb2e5683
4:378396 MISSING T>Alt too long to show for this DUP	4	378396	504411	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.378398_504411dup	VUS	1 lab	0fbd069e83
7:150645528 KCNH2 T>C	7	150645528	150645528	T	C	KCNH2	c.2692+4A>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645528T>C	(Likely) benign	1 lab	0fbe74a77e
2:198267370 SF3B1 T>G	2	198267370	198267370	T	G	SF3B1	c.1987A>C	NM_012433.4	NP_036565.2:p.(Thr663Pro)	NC_000002.11:g.198267370T>G	VUS	1 lab	0fbecd75f4
11:6645293 DCHS1 A>C	11	6645293	6645293	A	C	DCHS1	c.7614T>G	NM_003737.4	NP_003728.1:p.(Ala2538=)	NC_000011.9:g.6645293A>C	(Likely) benign	1 lab	0fc0d9e721
20:43058165 HNF4A A>AC	20	43058165	43058169	A	AC	HNF4A	c.1268dup	NM_001258355.2	NP_001245284.1:p.(Glu424Ter)	NC_000020.10:g.43058169dup	VUS	1 lab	0fc20fbb47
3:97356850 EPHA6 A>G	3	97356850	97356850	A	G	EPHA6	c.2708A>G	NM_001080448.3	NP_001073917.2:p.(Asn903Ser)	NC_000003.11:g.97356850A>G	VUS	1 lab	0fc2f5642e
2:21266773 APOB AG>A	2	21266773	21266775	AG	A	APOB	c.44del	NM_000384.3	NP_000375.3:p.(Pro15LeufsTer78)	NC_000002.11:g.21266775del	(Likely) pathogenic	1 lab	0fc3c8716d
16:57005251 CETP G>A	16	57005251	57005251	G	A	CETP	c.616G>A	NM_000078.3	NP_000069.2:p.(Val206Ile)	NC_000016.9:g.57005251G>A	(Likely) benign	1 lab	0fc4c0b60d
9:107650843 ABCA1 C>T	9	107650843	107650843	C	T	ABCA1	c.160+540G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107650843C>T	(Likely) benign	1 lab	0fc73263af
12:16055847 STRAP A>T	12	16055847	16055847	A	T	STRAP	c.992-4A>T	NM_007178.4	NP_009109.3:p.?	NC_000012.11:g.16055847A>T	(Likely) benign	1 lab	0fc7ce9960
8:30954377 WRN A>G	8	30954377	30954377	A	G	WRN	c.1981+11A>G	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954377A>G	(Likely) benign	1 lab	0fcbbbfbde
10:81921766 ANXA11 C>T	10	81921766	81921766	C	T	ANXA11	c.1006G>A	NM_001278409.2	NP_001265338.1:p.(Glu336Lys)	NC_000010.10:g.81921766C>T	(Likely) benign	1 lab	0fcf14a0bb
12:111348950 MYL2 A>G	12	111348950	111348950	A	G	MYL2	c.432T>C	NM_000432.4	NP_000423.2:p.(Pro144=)	NC_000012.11:g.111348950A>G	(Likely) benign	1 lab	0fd309d6ce
2:21225378 APOB T>C	2	21225378	21225378	T	C	APOB	c.12916A>G	NM_000384.3	NP_000375.3:p.(Ile4306Val)	NC_000002.11:g.21225378T>C	VUS	1 lab	0fd5e6a7cf
15:28096594 OCA2 C>T	15	28096594	28096594	C	T	OCA2	c.2272G>A	NM_000275.3	NP_000266.2:p.(Asp758Asn)	NC_000015.9:g.28096594C>T	VUS	1 lab	1817a5c683
1:12026478 PLOD1 G>A	1	12026478	12026478	G	A	PLOD1	c.1650+105G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12026478G>A	(Likely) benign	1 lab	0fd96674f5
X:41333651 NYX C>G	X	41333651	41333651	C	G	NYX	c.945C>G	NM_022567.2	NP_072089.1:p.(Thr315=)	NC_000023.10:g.41333651C>G	(Likely) benign	1 lab	0fda39ab68
19:38959939 RYR1 C>T	19	38959939	38959939	C	T	RYR1	c.3557-6C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38959939C>T	(Likely) benign	1 lab	0fda5139ec
10:126686687 CTBP2 A>G	10	126686687	126686687	A	G	CTBP2	c.2031T>C	NM_022802.3	NP_073713.2:p.(Ser677=)	NC_000010.10:g.126686687A>G	(Likely) benign	1 lab	0fdc629de9
7:2427613 MISSING Ref too long to show for this DEL>G	7	2427613	2468933	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.2427614_2468933del	VUS	1 lab	0fdd673495
3:53806868 CACNA1D G>A	3	53806868	53806868	G	A	CACNA1D	c.4113G>A	NM_000720.4	NP_000711.1:p.(Pro1371=)	NC_000003.11:g.53806868G>A	(Likely) benign	1 lab	0fdfa09943
11:47370843 MYBPC3 T>C	11	47370843	47370843	T	C	MYBPC3	c.654+482A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370843T>C	(Likely) benign	1 lab	0fe2295cd9
X:152415078 MISSING T>Alt too long to show for this DUP	X	152415078	152845018	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152415080_152845018dup	VUS	1 lab	0fe48f0a80
X:55172647 VCF2 G>A	X	55172647	55172647	G	A	VCF2	c.215C>T	NM_001166703.2	NP_001160175.1:p.(Pro72Leu)	NC_000023.10:g.55172647G>A	(Likely) benign	1 lab	0fe4bafa89
4:36285950 DTHD1 G>A	4	36285950	36285950	G	A	DTHD1	c.624G>A	NM_001170700.3	NP_001164171.2:p.(Gln208=)	NC_000004.11:g.36285950G>A	(Likely) benign	1 lab	0fe823efce
1:201334449 TNNT2 G>A	1	201334449	201334449	G	A	TNNT2	c.265-14C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201334449G>A	(Likely) benign	1 lab	0fead15024
19:45411179 APOE T>C	19	45411179	45411179	T	C	APOE	c.284T>C	NM_001302688.2	NP_001289617.1:p.(Leu95Pro)	NC_000019.9:g.45411179T>C	VUS	1 lab	0feccfa05f
11:47356778 MYBPC3 GAGGCA>G	11	47356778	47356787	GAGGCA	G	MYBPC3	c.2738-23_2738-19del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356783_47356787del	(Likely) benign	1 lab	0fed15eccf
3:38598067 SCN5A A>G	3	38598067	38598067	A	G	SCN5A	c.4302T>C	NM_198056.3	NP_932173.1:p.(Tyr1434=)	NC_000003.11:g.38598067A>G	(Likely) benign	1 lab	0feebf6bc0
2:3816956 DCDC2C C>T	2	3816956	3816956	C	T	DCDC2C	c.909C>T	NM_001287444.2	NP_001274373.1:p.(Asp303=)	NC_000002.11:g.3816956C>T	(Likely) benign	1 lab	0fef6c8360
5:140799205 PCDHGB7 C>T	5	140799205	140799205	C	T	PCDHGB7	c.1779C>T	NM_018927.4	NP_061750.1:p.(Ala593=)	NC_000005.9:g.140799205C>T	(Likely) benign	1 lab	0ff128275a
19:12969485 MAST1 T>C	19	12969485	12969485	T	C	MAST1	c.1298T>C	NM_014975.3	NP_055790.1:p.(Phe433Ser)	NC_000019.9:g.12969485T>C	VUS	1 lab	0ff2ca20b5
11:108143430 ATM C>T	11	108143430	108143430	C	T	ATM	c.3154-19C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143430C>T	VUS	1 lab	0ff2e9836f
15:58830639 LIPC A>G	15	58830639	58830639	A	G	LIPC	c.196A>G	NM_000236.3	NP_000227.2:p.(Ile66Val)	NC_000015.9:g.58830639A>G	(Likely) benign	1 lab	0ff31c1162
3:38651350 SCN5A TGCAGGCCGATGAGG>T	3	38651350	38651367	TGCAGGCCGATGAGG	T	SCN5A	c.795_808del	NM_198056.3	NP_932173.1:p.(Leu266AlafsTer40)	NC_000003.11:g.38651354_38651367del	(Likely) pathogenic	1 lab	0ff35e915c
18:29124109 MISSING Ref too long to show for this DEL>A	18	29124109	29303332	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.29124110_29303332del	VUS	1 lab	0ff50444db
2:211438049 CPS1 G>A	2	211438049	211438049	G	A	CPS1	c.154G>A	NM_001875.5	NP_001866.2:p.(Asp52Asn)	NC_000002.11:g.211438049G>A	VUS	1 lab	0ffd9cea9d
8:144295767 GPIHBP1 AGATGAG>A	8	144295767	144295780	AGATGAG	A	GPIHBP1	c.131_136del	NM_178172.6	NP_835466.2:p.(Asp44_Glu45del)	NC_000008.10:g.144295775_144295780del	VUS	1 lab	0ffedda575
2:211521227 CPS1 CTT>C	2	211521227	211521242	CTT	C	CPS1	c.3559-8_3559-7del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211521241_211521242del	(Likely) benign	1 lab	1001a13a3b
2:21233199 APOB A>G	2	21233199	21233199	A	G	APOB	c.6541T>C	NM_000384.3	NP_000375.3:p.(Phe2181Leu)	NC_000002.11:g.21233199A>G	VUS	1 lab	1001f14808
15:85401617 ALPK3 G>T	15	85401617	85401617	G	T	ALPK3	c.3648G>T	NM_020778.5	NP_065829.4:p.(Thr1216=)	NC_000015.9:g.85401617G>T	(Likely) benign	1 lab	10049ea9a4
9:107589710 ABCA1 C>T	9	107589710	107589710	C	T	ABCA1	c.2116-260G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589710C>T	(Likely) benign	1 lab	10055985a7
18:28739495 DSC1 CA>C	18	28739495	28739508	CA	C	DSC1	c.64-4del	NM_004948.3	NP_004939.1:p.?	NC_000018.9:g.28739508del	(Likely) benign	1 lab	10068b60eb
1:55523822 PCSK9 G>A	1	55523822	55523822	G	A	PCSK9	c.1294G>A	NM_174936.4	NP_777596.2:p.(Asp432Asn)	NC_000001.10:g.55523822G>A	VUS	1 lab	1008954796
9:139399517 NOTCH1 G>A	9	139399517	139399517	G	A	NOTCH1	c.4626C>T	NM_017617.5	NP_060087.3:p.(Asp1542=)	NC_000009.11:g.139399517G>A	(Likely) benign	1 lab	100919c7f4
2:179597397 TTN C>T	2	179597397	179597397	C	T	TTN	c.16391G>A	NM_001267550.2	NP_001254479.2:p.(Gly5464Asp)	NC_000002.11:g.179597397C>T	VUS	1 lab	100bbb10c7
10:13151245 OPTN G>A	10	13151245	13151245	G	A	OPTN	c.123G>A	NM_001008211.1	NP_001008212.1:p.(Leu41=)	NC_000010.10:g.13151245G>A	(Likely) benign	1 lab	100fd333d7
X:70443993 GJB1 G>A	X	70443993	70443993	G	A	GJB1	c.436G>A	NM_000166.6	NP_000157.1:p.(Glu146Lys)	NC_000023.10:g.70443993G>A	(Likely) pathogenic	1 lab	10101ba7ac
5:140221071 PCDHA8 G>T	5	140221071	140221071	G	T	PCDHA8	c.165G>T	NM_018911.3	NP_061734.1:p.(Glu55Asp)	NC_000005.9:g.140221071G>T	(Likely) benign	1 lab	1010a42875
9:107555090 ABCA1 A>G	9	107555090	107555090	A	G	ABCA1	c.5734T>C	NM_005502.4	NP_005493.2:p.(Leu1912=)	NC_000009.11:g.107555090A>G	(Likely) benign	1 lab	1011749092
2:179639897 TTN G>T	2	179639897	179639897	G	T	TTN	c.6541C>A	NM_001267550.2	NP_001254479.2:p.(Gln2181Lys)	NC_000002.11:g.179639897G>T	VUS	1 lab	1011c1d588
6:79679857 PHIP A>T	6	79679857	79679857	A	T	PHIP	c.3031T>A	NM_017934.7	NP_060404.4:p.(Tyr1011Asn)	NC_000006.11:g.79679857A>T	VUS	1 lab	1012069f40
8:87874946 MISSING Ref too long to show for this DEL>A	8	87874946	88007183	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.87874947_88007183del	VUS	1 lab	10170e7769
7:100276432 GNB2 AC>A	7	100276432	100276437	AC	A	GNB2	c.*13del	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100276437del	(Likely) benign	1 lab	10175e2851
18:58039402 MC4R C>A	18	58039402	58039402	C	A	MC4R	c.181G>T	NM_005912.3	NP_005903.2:p.(Glu61Ter)	NC_000018.9:g.58039402C>A	(Likely) pathogenic	1 lab	101aae18f3
16:71056991 MISSING C>Alt too long to show for this DUP	16	71056991	71426471	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71056992_71426471dup	VUS	1 lab	101c37967c
6:42146032 GUCA1ANB-GUCA1A T>C	6	42146032	42146032	T	C	GUCA1ANB-GUCA1A	c.216T>C	NM_000409.5	NP_000400.2:p.(Asp72=)	NC_000006.11:g.42146032T>C	(Likely) benign	1 lab	101db74c9a
6:56490035 DST G>A	6	56490035	56490035	G	A	DST	c.4651C>T	NM_001144769.5	NP_001138241.1:p.(Arg1551Trp)	NC_000006.11:g.56490035G>A	VUS	1 lab	101f899de8
12:59313952 LRIG3 C>T	12	59313952	59313952	C	T	LRIG3	c.65G>A	NM_153377.5	NP_700356.2:p.(Gly22Glu)	NC_000012.11:g.59313952C>T	VUS	1 lab	1020166c67
9:17843 WASHC1 C>A	9	17843	17843	C	A	WASHC1	c.421G>T	NM_182905.6	NP_878908.4:p.(Asp141Tyr)	NC_000009.11:g.17843C>A	(Likely) benign	1 lab	102219463d
18:28681875 DSC2 C>T	18	28681875	28681875	C	T	DSC2	c.60G>A	NM_004949.5	NP_004940.1:p.(Leu20=)	NC_000018.9:g.28681875C>T	(Likely) benign	1 lab	102291e6ac
19:11200806 LDLR C>T	19	11200806	11200806	C	T	LDLR	c.67+515C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200806C>T	(Likely) benign	1 lab	102314eedb
4:39219595 WDR19 C>T	4	39219595	39219595	C	T	WDR19	c.1357-8C>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39219595C>T	(Likely) benign	1 lab	1025f808f8
2:179417446 TTN C>T	2	179417446	179417446	C	T	TTN	c.90181G>A	NM_001267550.2	NP_001254479.2:p.(Val30061Ile)	NC_000002.11:g.179417446C>T	VUS	1 lab	1025f81292
7:128477440 FLNC T>C	7	128477440	128477440	T	C	FLNC	c.700-12T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477440T>C	(Likely) benign	1 lab	10275c1264
5:10258382 CCT5 G>A	5	10258382	10258382	G	A	CCT5	c.525G>A	NM_001306154.2	NP_001293083.1:p.(Val175=)	NC_000005.9:g.10258382G>A	(Likely) benign	1 lab	102a2bce51
8:24813737 NEFL T>C	8	24813737	24813737	T	C	NEFL	c.293A>G	NM_006158.5	NP_006149.2:p.(Asn98Ser)	NC_000008.10:g.24813737T>C	(Likely) pathogenic	1 lab	10352e5748
19:11224307 LDLR C>A	19	11224307	11224307	C	A	LDLR	c.1455C>A	NM_000527.5	NP_000518.1:p.(His485Gln)	NC_000019.9:g.11224307C>A	(Likely) pathogenic	1 lab	103e548922
9:33797999 PRSS3 A>G	9	33797999	33797999	A	G	PRSS3	c.415A>G	NM_001197097.3	NP_001184026.3:p.(Thr139Ala)	NC_000009.11:g.33797999A>G	(Likely) benign	1 lab	103e7d519e
3:184043253 EIF4G1 C>T	3	184043253	184043253	C	T	EIF4G1	c.2965-15C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184043253C>T	(Likely) benign	1 lab	10400e82db
15:58834186 LIPC T>C	15	58834186	58834186	T	C	LIPC	c.456+20T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834186T>C	(Likely) benign	1 lab	10429d4dc7
7:44149111 AEBP1 C>G	7	44149111	44149111	C	G	AEBP1	c.1150+171C>G	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44149111C>G	(Likely) benign	1 lab	1042cc7452
12:32975823 PKP2 G>C	12	32975823	32975823	G	C	PKP2	c.1807-258C>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32975823G>C	(Likely) benign	1 lab	10433944b9
2:44051047 ABCG5 C>T	2	44051047	44051047	C	T	ABCG5	c.1324+5G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051047C>T	(Likely) pathogenic	1 lab	10487e3842
13:32912183 BRCA2 A>T	13	32912183	32912183	A	T	BRCA2	c.3691A>T	NM_000059.4	NP_000050.3:p.(Thr1231Ser)	NC_000013.10:g.32912183A>T	(Likely) benign	1 lab	1048f9a18b
8:145007187 PLEC G>A	8	145007187	145007187	G	A	PLEC	c.1922C>T	NM_201380.4	NP_958782.1:p.(Ala641Val)	NC_000008.10:g.145007187G>A	(Likely) benign	1 lab	104b24b784
18:28671044 DSC2 GA>G	18	28671044	28671046	GA	G	DSC2	c.420del	NM_004949.5	NP_004940.1:p.(Pro141LeufsTer5)	NC_000018.9:g.28671046del	(Likely) pathogenic	1 lab	104c615693
1:55518198 PCSK9 C>A	1	55518198	55518198	C	A	PCSK9	c.657+114C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518198C>A	(Likely) benign	1 lab	104e9e6c91
1:1168180 B3GALT6 G>C	1	1168180	1168180	G	C	B3GALT6	c.522G>C	NM_080605.4	NP_542172.2:p.(Glu174Asp)	NC_000001.10:g.1168180G>C	(Likely) benign	1 lab	10504a015a
11:48149478 PTPRJ G>A	11	48149478	48149478	G	A	PTPRJ	c.1240G>A	NM_002843.4	NP_002834.3:p.(Val414Ile)	NC_000011.9:g.48149478G>A	(Likely) benign	1 lab	1051d5d93d
9:140021472 MISSING Ref too long to show for this DEL>A	9	140021472	140994780	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.140021473_140994780del	(Likely) pathogenic	1 lab	1052abd92a
18:45423300 SMAD2 T>C	18	45423300	45423300	T	C	SMAD2	c.-53-120A>G	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45423300T>C	(Likely) benign	1 lab	10551a8a85
X:70444122 GJB1 G>A	X	70444122	70444122	G	A	GJB1	c.565G>A	NM_000166.6	NP_000157.1:p.(Val189Ile)	NC_000023.10:g.70444122G>A	(Likely) pathogenic	1 lab	105691e454
15:71704176 THSD4 A>T	15	71704176	71704176	A	T	THSD4	c.1152+14A>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71704176A>T	(Likely) benign	1 lab	1056e95133
16:1003967 LMF1 TCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC>T	16	1003967	1004038	TCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC	T	LMF1	c.503+319_503+389del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003968_1004038del	(Likely) benign	1 lab	105900102c
11:47359001 MYBPC3 G>T	11	47359001	47359001	G	T	MYBPC3	c.2543C>A	NM_000256.3	NP_000247.2:p.(Ala848Glu)	NC_000011.9:g.47359001G>T	VUS	1 lab	1059a9ee71
12:124831113 NCOR2 C>T	12	124831113	124831113	C	T	NCOR2	c.4356G>A	NM_006312.6	NP_006303.4:p.(Thr1452=)	NC_000012.11:g.124831113C>T	(Likely) benign	1 lab	1059d005d8
1:12061830 MFN2 C>T	1	12061830	12061830	C	T	MFN2	c.975C>T	NM_014874.4	NP_055689.1:p.(Gly325=)	NC_000001.10:g.12061830C>T	(Likely) benign	1 lab	105b083d13
16:68849506 CDH1 C>T	16	68849506	68849506	C	T	CDH1	c.1409C>T	NM_004360.5	NP_004351.1:p.(Thr470Ile)	NC_000016.9:g.68849506C>T	(Likely) benign	1 lab	105c38b319
14:81610059 TSHR G>A	14	81610059	81610059	G	A	TSHR	c.1657G>A	NM_000369.5	NP_000360.2:p.(Ala553Thr)	NC_000014.8:g.81610059G>A	(Likely) pathogenic	1 lab	105c8a0a80
17:45232085 CDC27 T>TCTC	17	45232085	45232086	T	TCTC	CDC27	c.909_910insGAG	NM_001114091.4	NP_001107563.1:p.(Asn303_Thr304insGlu)	NC_000017.10:g.45232085_45232086insCTC	(Likely) benign	1 lab	105cc39fed
6:32009262 TNXB G>A	6	32009262	32009262	G	A	TNXB	c.12628-35C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009262G>A	(Likely) benign	1 lab	105eb92b82
3:46904893 MYL3 G>A	3	46904893	46904893	G	A	MYL3	c.-13C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46904893G>A	(Likely) benign	1 lab	1065b47d83
15:23890151 MAGEL2 G>C	15	23890151	23890151	G	C	MAGEL2	c.2739C>G	NM_019066.5	NP_061939.3:p.(Pro913=)	NC_000015.9:g.23890151G>C	(Likely) benign	1 lab	10675ee78b
6:56485486 DST G>A	6	56485486	56485486	G	A	DST	c.3346C>T	NM_001723.7	NP_001714.1:p.(His1116Tyr)	NC_000006.11:g.56485486G>A	(Likely) benign	1 lab	106bee2a51
X:27765399 DCAF8L2 AGAGGAG>A	X	27765399	27765446	AGAGGAG	A	DCAF8L2	c.429_434del	NM_001353448.2	NP_001340377.1:p.(Glu146_Glu147del)	NC_000023.10:g.27765441_27765446del	(Likely) benign	1 lab	106c4b24a6
15:99492266 MISSING Ref too long to show for this DEL>G	15	99492266	102394710	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.99492267_102394710del	(Likely) pathogenic	1 lab	106d7f6529
5:86633809 RASA1 G>GT	5	86633809	86633811	G	GT	RASA1	c.920dup	NM_002890.3	NP_002881.1:p.(Ile308HisfsTer4)	NC_000005.9:g.86633811dup	(Likely) pathogenic	1 lab	106eac8c7e
6:32021283 TNXB C>T	6	32021283	32021283	C	T	TNXB	c.8667G>A	NM_019105.8	NP_061978.6:p.(Pro2889=)	NC_000006.11:g.32021283C>T	(Likely) benign	1 lab	106f9ae5cf
1:63069849 ANGPTL3 T>G	1	63069849	63069849	T	G	ANGPTL3	c.1141T>G	NM_014495.4	NP_055310.1:p.(Phe381Val)	NC_000001.10:g.63069849T>G	VUS	1 lab	10715d504a
X:34595521 MISSING A>Alt too long to show for this DUP	X	34595521	34645590	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.34595523_34645590dup	VUS	1 lab	1072076391
10:61941098 ANK3 C>T	10	61941098	61941098	C	T	ANK3	c.2173G>A	NM_020987.5	NP_066267.2:p.(Ala725Thr)	NC_000010.10:g.61941098C>T	VUS	1 lab	10746547ac
6:70991126 COL9A1 G>A	6	70991126	70991126	G	A	COL9A1	c.114C>T	NM_078485.4	NP_511040.2:p.(Gly38=)	NC_000006.11:g.70991126G>A	(Likely) benign	1 lab	1074e64aa8
2:21236733 APOB C>A	2	21236733	21236733	C	A	APOB	c.3843-328G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236733C>A	(Likely) benign	1 lab	1074f6935f
10:103826923 HPS6 C>T	10	103826923	103826923	C	T	HPS6	c.1692C>T	NM_024747.6	NP_079023.2:p.(Pro564=)	NC_000010.10:g.103826923C>T	(Likely) benign	1 lab	10756a3043
16:23536550 EARS2 G>A	16	23536550	23536550	G	A	EARS2	c.1503C>T	NM_001308211.1	NP_001295140.1:p.(His501=)	NC_000016.9:g.23536550G>A	(Likely) benign	1 lab	1076455eef
19:11224103 LDLR C>T	19	11224103	11224103	C	T	LDLR	c.1336C>T	NM_000527.5	NP_000518.1:p.(Leu446=)	NC_000019.9:g.11224103C>T	(Likely) benign	1 lab	1078638f8d
14:23866011 MYH6 G>A	14	23866011	23866011	G	A	MYH6	c.2184C>T	NM_002471.4	NP_002462.2:p.(Asn728=)	NC_000014.8:g.23866011G>A	(Likely) benign	1 lab	107988bdd4
7:150652587 KCNH2 G>A	7	150652587	150652587	G	A	KCNH2	c.5C>T	NM_172057.3	NP_742054.1:p.(Ala2Val)	NC_000007.13:g.150652587G>A	VUS	1 lab	1079a54e89
2:32095023 MEMO1 T>TAA	2	32095023	32095038	T	TAA	MEMO1	c.658-4_658-3dup	NM_015955.5	NP_057039.1:p.?	NC_000002.11:g.32095037_32095038dup	(Likely) benign	1 lab	107a5bc5ef
6:32609276 HLA-DQA1 TGG>T	6	32609276	32609278	TGG	T	HLA-DQA1	c.273_274del	NM_002122.5	NP_002113.2:p.(Ala92LysfsTer9)	NC_000006.11:g.32609277_32609278del	(Likely) benign	1 lab	107bed97cc
6:32010375 TNXB G>A	6	32010375	32010375	G	A	TNXB	c.12061C>T	NM_019105.8	NP_061978.6:p.(Arg4021Trp)	NC_000006.11:g.32010375G>A	VUS	1 lab	107c2cf521
11:9867120 SBF2 A>G	11	9867120	9867120	A	G	SBF2	c.3102T>C	NM_030962.4	NP_112224.1:p.(Thr1034=)	NC_000011.9:g.9867120A>G	(Likely) benign	1 lab	10806c8d24
X:7811645 VCX C>G	X	7811645	7811645	C	G	VCX	c.209C>G	NM_013452.2	NP_038480.2:p.(Ala70Gly)	NC_000023.10:g.7811645C>G	(Likely) benign	1 lab	10879b9865
17:10549104 MYH3 G>C	17	10549104	10549104	G	C	MYH3	c.1061C>G	NM_002470.4	NP_002461.2:p.(Thr354Arg)	NC_000017.10:g.10549104G>C	VUS	1 lab	1087f504b1
4:85708691 WDFY3 G>A	4	85708691	85708691	G	A	WDFY3	c.3845C>T	NM_014991.6	NP_055806.2:p.(Thr1282Ile)	NC_000004.11:g.85708691G>A	(Likely) benign	1 lab	10883a3848
5:127728862 FBN2 C>T	5	127728862	127728862	C	T	FBN2	c.1431G>A	NM_001999.4	NP_001990.2:p.(Gly477=)	NC_000005.9:g.127728862C>T	(Likely) benign	1 lab	1088af5b13
18:47113138 LIPG C>T	18	47113138	47113138	C	T	LIPG	c.1399C>T	NM_006033.4	NP_006024.1:p.(Pro467Ser)	NC_000018.9:g.47113138C>T	(Likely) benign	1 lab	1089d55668
9:79842303 VPS13A G>A	9	79842303	79842303	G	A	VPS13A	c.1358-4G>A	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79842303G>A	(Likely) benign	1 lab	1089e7ff8b
4:16026805 PROM1 T>C	4	16026805	16026805	T	C	PROM1	c.603+10A>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16026805T>C	(Likely) benign	1 lab	10909c963e
15:58860944 LIPC A>T	15	58860944	58860944	A	T	LIPC	c.1418A>T	NM_000236.3	NP_000227.2:p.(Asp473Val)	NC_000015.9:g.58860944A>T	VUS	1 lab	1091fb78b3
6:169620363 THBS2 G>A	6	169620363	169620363	G	A	THBS2	c.3441C>T	NM_003247.5	NP_003238.2:p.(Gly1147=)	NC_000006.11:g.169620363G>A	(Likely) benign	1 lab	109363b815
5:55076901 DDX4 C>T	5	55076901	55076901	C	T	DDX4	c.504C>T	NM_024415.3	NP_077726.1:p.(Asp168=)	NC_000005.9:g.55076901C>T	(Likely) benign	1 lab	1096369866
11:19213948 CSRP3 G>A	11	19213948	19213948	G	A	CSRP3	c.48C>T	NM_003476.5	NP_003467.1:p.(Thr16=)	NC_000011.9:g.19213948G>A	(Likely) benign	1 lab	1097fd4c9d
17:7915870 GUCY2D C>T	17	7915870	7915870	C	T	GUCY2D	c.2059C>T	NM_000180.4	NP_000171.1:p.(His687Tyr)	NC_000017.10:g.7915870C>T	VUS	1 lab	109b868c5d
1:55119442 MROH7 C>T	1	55119442	55119442	C	T	MROH7	c.843C>T	NM_001039464.4	NP_001034553.3:p.(Ser281=)	NC_000001.10:g.55119442C>T	(Likely) benign	1 lab	109eac60e7
22:22997939 MISSING Ref too long to show for this DEL>A	22	22997939	23652527	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22997940_23652527del	(Likely) pathogenic	1 lab	109f66b5ff
12:13719952 GRIN2B CACTT>C	12	13719952	13719959	CACTT	C	GRIN2B	c.2598+3_2598+6del	NM_000834.5	NP_000825.2:p.?	NC_000012.11:g.13719956_13719959del	(Likely) pathogenic	1 lab	109f8e0e22
9:35708319 TLN1 C>T	9	35708319	35708319	C	T	TLN1	c.4470+19G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35708319C>T	(Likely) benign	1 lab	10a1b26b94
4:113627323 ANK2 G>A	4	113627323	113627323	G	A	ANK2	c.22G>A	NM_001386186.2	NP_001373115.1:p.(Ala8Thr)	NC_000004.11:g.113627323G>A	(Likely) benign	1 lab	10a4895457
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	10a844d796
8:59412646 CYP7A1 T>C	8	59412646	59412646	T	C	CYP7A1	c.12A>G	NM_000780.4	NP_000771.2:p.(Thr4=)	NC_000008.10:g.59412646T>C	(Likely) benign	1 lab	10aaaff3ab
3:151094821 MED12L A>G	3	151094821	151094821	A	G	MED12L	c.4066A>G	NM_053002.5	NP_443728.3:p.(Ile1356Val)	NC_000003.11:g.151094821A>G	VUS	1 lab	10ab86ae06
17:74725837 METTL23 G>C	17	74725837	74725837	G	C	METTL23	c.45G>C	NM_001080510.5	NP_001073979.3:p.(Trp15Cys)	NC_000017.10:g.74725837G>C	VUS	1 lab	10b22cc90c
11:102201955 BIRC3 CTG>C	11	102201955	102201957	CTG	C	BIRC3	c.1308_1309del	NM_001165.5	NP_001156.1:p.(Glu437GlyfsTer6)	NC_000011.9:g.102201956_102201957del	(Likely) pathogenic	1 lab	10b5bb3d2d
14:76429687 TGFB3 G>A	14	76429687	76429687	G	A	TGFB3	c.898C>T	NM_003239.5	NP_003230.1:p.(Arg300Trp)	NC_000014.8:g.76429687G>A	(Likely) pathogenic	1 lab	10b6751a77
16:1004452 LMF1 G>C	16	1004452	1004452	G	C	LMF1	c.408C>G	NM_022773.4	NP_073610.2:p.(Ile136Met)	NC_000016.9:g.1004452G>C	(Likely) benign	1 lab	10b879b721
2:179529653 TTN G>A	2	179529653	179529653	G	A	TTN	c.36044C>T	NM_001267550.2	NP_001254479.2:p.(Thr12015Met)	NC_000002.11:g.179529653G>A	VUS	1 lab	10b8b17d05
16:67976557 LCAT T>C	16	67976557	67976557	T	C	LCAT	c.523+17A>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976557T>C	VUS	1 lab	10ba125892
16:57007248 CETP T>C	16	57007248	57007248	T	C	CETP	c.756T>C	NM_000078.3	NP_000069.2:p.(His252=)	NC_000016.9:g.57007248T>C	(Likely) benign	1 lab	10c339f70a
20:758277 MISSING T>Alt too long to show for this DUP	20	758277	1532536	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.758281_1532536dup	VUS	1 lab	10c4034eff
22:41923280 ACO2 C>T	22	41923280	41923280	C	T	ACO2	c.1954-12C>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41923280C>T	(Likely) benign	1 lab	10c63b4820
19:50789795 MYH14 C>T	19	50789795	50789795	C	T	MYH14	c.4596C>T	NM_001145809.2	NP_001139281.1:p.(Ala1532=)	NC_000019.9:g.50789795C>T	(Likely) benign	1 lab	10c672928a
2:179467241 TTN T>G	2	179467241	179467241	T	G	TTN	c.54888A>C	NM_001267550.2	NP_001254479.2:p.(Pro18296=)	NC_000002.11:g.179467241T>G	(Likely) benign	1 lab	10c918d6a6
11:118023354 SCN4B G>A	11	118023354	118023354	G	A	SCN4B	c.35C>T	NM_174934.4	NP_777594.1:p.(Ala12Val)	NC_000011.9:g.118023354G>A	VUS	1 lab	10ca1009a9
2:21266770 APOB C>CA	2	21266770	21266771	C	CA	APOB	c.47_48insT	NM_000384.3	NP_000375.3:p.(Leu17AlafsTer41)	NC_000002.11:g.21266770_21266771insA	(Likely) pathogenic	1 lab	10cb411417
16:17235184 XYLT1 G>A	16	17235184	17235184	G	A	XYLT1	c.1413C>T	NM_022166.4	NP_071449.1:p.(Cys471=)	NC_000016.9:g.17235184G>A	(Likely) benign	1 lab	10cc1beafd
18:59739962 PIGN TAA>T	18	59739962	59739975	TAA	T	PIGN	c.2620-6_2620-5del	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59739974_59739975del	(Likely) benign	1 lab	10ccdc0288
17:1666925 MISSING A>Alt too long to show for this DUP	17	1666925	1894206	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.1666926_1894206dup	VUS	1 lab	10ce9045d6
12:110234487 TRPV4 C>T	12	110234487	110234487	C	T	TRPV4	c.1175G>A	NM_021625.5	NP_067638.3:p.(Arg392Gln)	NC_000012.11:g.110234487C>T	VUS	1 lab	10cf60f034
9:111653612 ELP1 G>A	9	111653612	111653612	G	A	ELP1	c.3031C>T	NM_003640.5	NP_003631.2:p.(Arg1011Cys)	NC_000009.11:g.111653612G>A	VUS	1 lab	10d63c1e6a
1:78408508 NEXN GAATT>G	1	78408508	78408515	GAATT	G	NEXN	c.2026_*1del	NM_144573.4	NP_653174.3:p.(Ter676HisextTer8)	NC_000001.10:g.78408512_78408515del	VUS	1 lab	10d931b7f6
2:44101884 ABCG8 T>C	2	44101884	44101884	T	C	ABCG8	c.1488+262T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101884T>C	(Likely) benign	1 lab	10df1d3961
20:36488285 CTNNBL1 G>T	20	36488285	36488285	G	T	CTNNBL1	c.1393-16G>T	NM_030877.5	NP_110517.2:p.?	NC_000020.10:g.36488285G>T	(Likely) benign	1 lab	10e174265e
1:160318829 NCSTN G>C	1	160318829	160318829	G	C	NCSTN	c.231G>C	NM_015331.3	NP_056146.1:p.(Glu77Asp)	NC_000001.10:g.160318829G>C	(Likely) benign	1 lab	10e51dee62
3:27463093 SLC4A7 A>G	3	27463093	27463093	A	G	SLC4A7	c.1424+20T>C	NM_001321103.2	NP_001308032.1:p.?	NC_000003.11:g.27463093A>G	(Likely) benign	1 lab	10ec206bd2
8:43054512 HGSNAT G>A	8	43054512	43054512	G	A	HGSNAT	c.1727-19G>A	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43054512G>A	(Likely) benign	1 lab	10ed20cf42
7:75651313 STYXL1 TA>T	7	75651313	75651324	TA	T	STYXL1	c.166-4del	NM_016086.3	NP_057170.1:p.?	NC_000007.13:g.75651324del	(Likely) benign	1 lab	10ee72569f
2:179419238 TTN G>C	2	179419238	179419238	G	C	TTN	c.88836C>G	NM_001267550.2	NP_001254479.2:p.(Asn29612Lys)	NC_000002.11:g.179419238G>C	VUS	1 lab	10f0636070
10:90985067 LIPA CGCCCTCTCGCGGA>C	10	90985067	90985081	CGCCCTCTCGCGGA	C	LIPA	c.539-95_539-83del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90985069_90985081del	(Likely) benign	1 lab	10f0bb6e22
9:107586834 ABCA1 C>G	9	107586834	107586834	C	G	ABCA1	c.2568G>C	NM_005502.4	NP_005493.2:p.(Trp856Cys)	NC_000009.11:g.107586834C>G	VUS	1 lab	10f62e22f3
11:48149491 PTPRJ G>A	11	48149491	48149491	G	A	PTPRJ	c.1253G>A	NM_002843.4	NP_002834.3:p.(Arg418His)	NC_000011.9:g.48149491G>A	(Likely) benign	1 lab	10f6ed6de3
2:27449451 CAD C>A	2	27449451	27449451	C	A	CAD	c.2090C>A	NM_004341.5	NP_004332.2:p.(Ala697Asp)	NC_000002.11:g.27449451C>A	VUS	1 lab	10f77e3775
4:16035060 PROM1 C>T	4	16035060	16035060	C	T	PROM1	c.349G>A	NM_001145847.2	NP_001139319.1:p.(Val117Met)	NC_000004.11:g.16035060C>T	VUS	1 lab	10f80c45fe
8:1904992 ARHGEF10 G>C	8	1904992	1904992	G	C	ARHGEF10	c.3670G>C	NM_001308153.2	NP_001295082.1:p.(Asp1224His)	NC_000008.10:g.1904992G>C	VUS	1 lab	10f80c8768
12:6965260 USP5 C>T	12	6965260	6965260	C	T	USP5	c.384C>T	NM_001098536.2	NP_001092006.1:p.(Tyr128=)	NC_000012.11:g.6965260C>T	(Likely) benign	1 lab	10f86ebc5b
5:178562922 ADAMTS2 G>A	5	178562922	178562922	G	A	ADAMTS2	c.2073C>T	NM_014244.5	NP_055059.2:p.(Arg691=)	NC_000005.9:g.178562922G>A	(Likely) benign	1 lab	10f8aebc01
16:943067 LMF1 C>T	16	943067	943067	C	T	LMF1	c.270G>A	NM_001352018.2	NP_001338947.1:p.(Leu90=)	NC_000016.9:g.943067C>T	(Likely) benign	1 lab	10fc01b23d
7:6013117 PMS2 C>G	7	6013117	6013117	C	G	PMS2	c.2502G>C	NM_000535.7	NP_000526.2:p.(Met834Ile)	NC_000007.13:g.6013117C>G	VUS	1 lab	10fcce653a
6:112522837 LAMA4 C>T	6	112522837	112522837	C	T	LAMA4	c.475G>A	NM_001105206.3	NP_001098676.2:p.(Glu159Lys)	NC_000006.11:g.112522837C>T	VUS	1 lab	10ffa8b979
3:10094159 FANCD2 A>G	3	10094159	10094159	A	G	FANCD2	c.1634A>G	NM_033084.6	NP_149075.2:p.(Asn545Ser)	NC_000003.11:g.10094159A>G	(Likely) benign	1 lab	10fffdea2b
22:38373887 SOX10 G>A	22	38373887	38373887	G	A	SOX10	c.684C>T	NM_006941.4	NP_008872.1:p.(Pro228=)	NC_000022.10:g.38373887G>A	(Likely) benign	1 lab	110136a137
16:88496248 ZNF469 G>A	16	88496248	88496248	G	A	ZNF469	c.2370G>A	NM_001367624.2	NP_001354553.1:p.(Leu790=)	NC_000016.9:g.88496248G>A	(Likely) benign	1 lab	11023e765d
2:21252838 APOB T>C	2	21252838	21252838	T	C	APOB	c.1402A>G	NM_000384.3	NP_000375.3:p.(Asn468Asp)	NC_000002.11:g.21252838T>C	VUS	1 lab	1107a2028c
16:84035054 MISSING C>Alt too long to show for this DUP	16	84035054	84127337	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.84035056_84127337dup	VUS	1 lab	1109423f4c
2:21260024 APOB C>T	2	21260024	21260024	C	T	APOB	c.641G>A	NM_000384.3	NP_000375.3:p.(Arg214His)	NC_000002.11:g.21260024C>T	(Likely) benign	1 lab	110f86af4c
2:179414566 TTN C>T	2	179414566	179414566	C	T	TTN	c.91883G>A	NM_001267550.2	NP_001254479.2:p.(Arg30628Lys)	NC_000002.11:g.179414566C>T	VUS	1 lab	11133870c1
22:26936897 TPST2 G>A	22	26936897	26936897	G	A	TPST2	c.700C>T	NM_001008566.3	NP_001008566.1:p.(Leu234=)	NC_000022.10:g.26936897G>A	(Likely) benign	1 lab	111463d952
1:218614238 TGFB2 C>T	1	218614238	218614238	C	T	TGFB2	c.1087-308C>T	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218614238C>T	(Likely) benign	1 lab	1114a9d28a
7:128475507 FLNC G>A	7	128475507	128475507	G	A	FLNC	c.480G>A	NM_001458.5	NP_001449.3:p.(Thr160=)	NC_000007.13:g.128475507G>A	(Likely) benign	1 lab	1115584a09
13:43544755 MISSING T>Alt too long to show for this DUP	13	43544755	43718463	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.43544758_43718463dup	VUS	1 lab	111bd137a2
21:47539015 COL6A2 C>T	21	47539015	47539015	C	T	COL6A2	c.1251C>T	NM_058175.3	NP_478055.2:p.(Arg417=)	NC_000021.8:g.47539015C>T	VUS	1 lab	111d5a40d5
11:56143255 OR8U1 T>TGA	11	56143255	56143256	T	TGA	OR8U1	c.156_157insGA	NM_001005204.1	NP_001005204.1:p.(Thr53GlufsTer15)	NC_000011.9:g.56143255_56143256insGA	(Likely) benign	1 lab	11212ef126
12:6956018 CDCA3 G>A	12	6956018	6956018	G	A	CDCA3	c.594C>T	NM_001297603.3	NP_001284532.1:p.(His198=)	NC_000012.11:g.6956018G>A	(Likely) benign	1 lab	112181627b
9:107591382 ABCA1 T>C	9	107591382	107591382	T	C	ABCA1	c.1930A>G	NM_005502.4	NP_005493.2:p.(Met644Val)	NC_000009.11:g.107591382T>C	VUS	1 lab	1124e940aa
1:92763091 GLMN CAA>C	1	92763091	92763105	CAA	C	GLMN	c.40-7_40-6del	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92763104_92763105del	(Likely) benign	1 lab	113b6db000
7:99510485 MISSING Ref too long to show for this DEL>T	7	99510485	99606671	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.99510487_99606671del	VUS	1 lab	11261d5d7f
1:94495037 ABCA4 C>G	1	94495037	94495037	C	G	ABCA4	c.4503G>C	NM_000350.3	NP_000341.2:p.(Glu1501Asp)	NC_000001.10:g.94495037C>G	(Likely) benign	1 lab	11289b8acc
16:88499734 ZNF469 T>C	16	88499734	88499734	T	C	ZNF469	c.5856T>C	NM_001367624.2	NP_001354553.1:p.(Cys1952=)	NC_000016.9:g.88499734T>C	(Likely) benign	1 lab	112b6a0404
12:21353484 SLCO1B1 A>G	12	21353484	21353484	A	G	SLCO1B1	c.1013A>G	NM_006446.5	NP_006437.3:p.(Tyr338Cys)	NC_000012.11:g.21353484A>G	(Likely) benign	1 lab	112ddd1510
13:113212351 TUBGCP3 Ref too long to show for this DEL>G	13	113212351	113224567	Ref too long to show for this DEL	G	TUBGCP3	c.77-994_548+158del	NM_006322.6	NP_006313.1:p.?	NC_000013.10:g.113212352_113224567del	VUS	1 lab	112e4379e4
16:90001663 TUBB3 C>T	16	90001663	90001663	C	T	TUBB3	c.588C>T	NM_001197181.2	NP_001184110.1:p.(Pro196=)	NC_000016.9:g.90001663C>T	(Likely) benign	1 lab	1135039f4f
1:55524842 PCSK9 G>A	1	55524842	55524842	G	A	PCSK9	c.1504-317G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524842G>A	(Likely) benign	1 lab	1136561a2d
10:105793951 COL17A1 C>T	10	105793951	105793951	C	T	COL17A1	c.3908G>A	NM_000494.4	NP_000485.3:p.(Arg1303Gln)	NC_000010.10:g.105793951C>T	(Likely) pathogenic	1 lab	1139953321
19:11221692 LDLR C>A	19	11221692	11221692	C	A	LDLR	c.1060+245C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221692C>A	(Likely) benign	1 lab	113c5d7057
4:100512906 MTTP A>G	4	100512906	100512906	A	G	MTTP	c.717A>G	NM_000253.4	NP_000244.2:p.(Gly239=)	NC_000004.11:g.100512906A>G	(Likely) benign	1 lab	113cad5c8b
9:97934337 FANCC A>G	9	97934337	97934337	A	G	FANCC	c.438T>C	NM_000136.3	NP_000127.2:p.(Tyr146=)	NC_000009.11:g.97934337A>G	(Likely) benign	1 lab	1140160428
16:15459471 NPIPA5 T>C	16	15459471	15459471	T	C	NPIPA5	c.566A>G	NM_001277325.2	NP_001264254.1:p.(Gln189Arg)	NC_000016.9:g.15459471T>C	(Likely) benign	1 lab	1141f4b244
4:100542482 MTTP A>G	4	100542482	100542482	A	G	MTTP	c.2513+94A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542482A>G	(Likely) benign	1 lab	1142e0d9ad
8:19796946 LPL C>T	8	19796946	19796946	C	T	LPL	c.-6C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796946C>T	VUS	1 lab	11432f75e4
2:50988143 MISSING Ref too long to show for this DEL>T	2	50988143	51347005	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.50988144_51347005del	(Likely) pathogenic	1 lab	1145d49feb
12:50500374 GPD1 C>T	12	50500374	50500374	C	T	GPD1	c.499+165C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500374C>T	(Likely) benign	1 lab	11474c50e1
17:74475963 RHBDF2 C>T	17	74475963	74475963	C	T	RHBDF2	c.211G>A	NM_024599.5	NP_078875.4:p.(Ala71Thr)	NC_000017.10:g.74475963C>T	VUS	1 lab	11478257a9
20:42814983 JPH2 C>T	20	42814983	42814983	C	T	JPH2	c.363G>A	NM_020433.5	NP_065166.2:p.(Glu121=)	NC_000020.10:g.42814983C>T	(Likely) benign	1 lab	1149f9ee0c
5:180057538 FLT4 C>T	5	180057538	180057538	C	T	FLT4	c.400+17G>A	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180057538C>T	(Likely) benign	1 lab	114a36955a
1:156104701 LMNA C>T	1	156104701	156104701	C	T	LMNA	c.745C>T	NM_170707.4	NP_733821.1:p.(Arg249Trp)	NC_000001.10:g.156104701C>T	(Likely) pathogenic	1 lab	114bad5cc0
2:44101631 ABCG8 G>A	2	44101631	44101631	G	A	ABCG8	c.1488+9G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101631G>A	(Likely) benign	1 lab	114cd01531
19:55317530 KIR2DL4 A>AGG	19	55317530	55317532	A	AGG	KIR2DL4	c.487_488insGG	NM_001080772.2	NP_001074241.1:p.(Ala163GlyfsTer83)	NC_000019.9:g.55317531_55317532insGG	(Likely) benign	1 lab	114e593a6f
9:107593217 ABCA1 G>A	9	107593217	107593217	G	A	ABCA1	c.1881C>T	NM_005502.4	NP_005493.2:p.(Tyr627=)	NC_000009.11:g.107593217G>A	(Likely) benign	1 lab	11528a4730
2:215661848 BARD1 G>A	2	215661848	215661848	G	A	BARD1	c.159-7C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661848G>A	(Likely) benign	1 lab	1157be54d7
11:47361266 MYBPC3 C>T	11	47361266	47361266	C	T	MYBPC3	c.2003G>A	NM_000256.3	NP_000247.2:p.(Arg668His)	NC_000011.9:g.47361266C>T	VUS	1 lab	1158677040
1:33134914 RBBP4 A>T	1	33134914	33134914	A	T	RBBP4	c.844A>T	NM_005610.3	NP_005601.1:p.(Asn282Tyr)	NC_000001.10:g.33134914A>T	VUS	1 lab	1159b65d7c
1:216390717 USH2A G>A	1	216390717	216390717	G	A	USH2A	c.3157+12C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216390717G>A	(Likely) benign	1 lab	115ad1c88c
21:47410951 COL6A1 A>G	21	47410951	47410951	A	G	COL6A1	c.1115A>G	NM_001848.3	NP_001839.2:p.(Glu372Gly)	NC_000021.8:g.47410951A>G	VUS	1 lab	116220de08
15:72640061 HEXA ACATAGCCCTTGC>A	15	72640061	72640077	ACATAGCCCTTGC	A	HEXA	c.1100_1111del	NM_000520.6	NP_000511.2:p.(Gly367_Tyr370del)	NC_000015.9:g.72640066_72640077del	(Likely) pathogenic	1 lab	11693609c1
6:64516125 EYS G>A	6	64516125	64516125	G	A	EYS	c.7369C>T	NM_001292009.2	NP_001278938.1:p.(Leu2457=)	NC_000006.11:g.64516125G>A	(Likely) benign	1 lab	116a40aee9
3:38924705 SCN11A C>T	3	38924705	38924705	C	T	SCN11A	c.3219+19G>A	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38924705C>T	(Likely) benign	1 lab	116c92e4fc
4:65274937 TECRL G>A	4	65274937	65274937	G	A	TECRL	c.133C>T	NM_001010874.5	NP_001010874.2:p.(Pro45Ser)	NC_000004.11:g.65274937G>A	(Likely) benign	1 lab	116d78bbc5
9:136223132 SURF1 G>A	9	136223132	136223132	G	A	SURF1	c.98C>T	NM_003172.4	NP_003163.1:p.(Pro33Leu)	NC_000009.11:g.136223132G>A	VUS	1 lab	116dfe17e7
9:107547873 ABCA1 G>A	9	107547873	107547873	G	A	ABCA1	c.6449C>T	NM_005502.4	NP_005493.2:p.(Pro2150Leu)	NC_000009.11:g.107547873G>A	VUS	1 lab	11706c24b0
7:91652113 AKAP9 C>T	7	91652113	91652113	C	T	AKAP9	c.3953-15C>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91652113C>T	(Likely) benign	1 lab	1171c3dedb
19:17132966 CPAMD8 CAGAG>C	19	17132966	17132970	CAGAG	C	CPAMD8	c.114_117del	NM_015692.5	NP_056507.3:p.(Ser39PhefsTer12)	NC_000019.9:g.17132967_17132970del	(Likely) pathogenic	1 lab	11725648e7
2:189864207 COL3A1 T>G	2	189864207	189864207	T	G	COL3A1	c.2133T>G	NM_000090.4	NP_000081.2:p.(Gly711=)	NC_000002.11:g.189864207T>G	(Likely) benign	1 lab	1173e01dd3
2:121742030 GLI2 C>T	2	121742030	121742030	C	T	GLI2	c.1684-17C>T	NM_001371271.1	NP_001358200.1:p.?	NC_000002.11:g.121742030C>T	(Likely) benign	1 lab	1174b221b4
13:20077364 MISSING C>Alt too long to show for this DUP	13	20077364	20249066	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.20077366_20249066dup	VUS	1 lab	1174de30d0
11:47355811 MYBPC3 C>T	11	47355811	47355811	C	T	MYBPC3	c.2906-250G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355811C>T	(Likely) benign	1 lab	11774dede2
5:121713608 MISSING Ref too long to show for this DEL>C	5	121713608	121844320	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.121713610_121844320del	VUS	1 lab	117867d701
3:153925777 ARHGEF26 Ref too long to show for this DEL>C	3	153925777	153955818	Ref too long to show for this DEL	C	ARHGEF26	c.1846-9880_2091-2341del	NM_015595.4	NP_056410.3:p.?	NC_000003.11:g.153925778_153955818del	VUS	1 lab	117a755c82
2:179469867 TTN C>A	2	179469867	179469867	C	A	TTN	c.54037G>T	NM_001267550.2	NP_001254479.2:p.(Ala18013Ser)	NC_000002.11:g.179469867C>A	VUS	1 lab	117b9b4115
1:63070341 ANGPTL3 C>T	1	63070341	63070341	C	T	ANGPTL3	c.1236C>T	NM_014495.4	NP_055310.1:p.(Asn412=)	NC_000001.10:g.63070341C>T	(Likely) benign	1 lab	117c37e442
18:67614674 CD226 TA>T	18	67614674	67614685	TA	T	CD226	c.-27-6del	NM_006566.4	NP_006557.2:p.?	NC_000018.9:g.67614685del	(Likely) benign	1 lab	117dfe4f70
9:107571241 ABCA1 C>T	9	107571241	107571241	C	T	ABCA1	c.4274+506G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107571241C>T	(Likely) benign	1 lab	117ec0ba0a
1:16380200 CLCNKB A>G	1	16380200	16380200	A	G	CLCNKB	c.1689A>G	NM_000085.5	NP_000076.2:p.(Pro563=)	NC_000001.10:g.16380200A>G	(Likely) benign	1 lab	1180a70972
2:21266792 APOB AGCAGCGCG>A	2	21266792	21266801	AGCAGCGCG	A	APOB	c.18_25del	NM_000384.3	NP_000375.3:p.(Ala7GlyfsTer48)	NC_000002.11:g.21266794_21266801del	VUS	1 lab	1182228242
16:921427 LMF1 G>A	16	921427	921427	G	A	LMF1	c.499-86C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921427G>A	(Likely) benign	1 lab	1184be061d
10:12149893 DHTKD1 G>A	10	12149893	12149893	G	A	DHTKD1	c.2048-15G>A	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12149893G>A	(Likely) benign	1 lab	11867ae46f
1:11907449 NPPA G>A	1	11907449	11907449	G	A	NPPA	c.171C>T	NM_006172.4	NP_006163.1:p.(Val57=)	NC_000001.10:g.11907449G>A	(Likely) benign	1 lab	1187fffb77
16:944712 LMF1 T>C	16	944712	944712	T	C	LMF1	c.265-1640A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.944712T>C	(Likely) benign	1 lab	118eafc745
2:179399108 TTN T>A	2	179399108	179399108	T	A	TTN	c.102234A>T	NM_001267550.2	NP_001254479.2:p.(Glu34078Asp)	NC_000002.11:g.179399108T>A	VUS	1 lab	1190a2bb0e
6:32029431 TNXB G>A	6	32029431	32029431	G	A	TNXB	c.7235C>T	NM_019105.8	NP_061978.6:p.(Pro2412Leu)	NC_000006.11:g.32029431G>A	(Likely) benign	1 lab	1190ba63ab
10:90975207 LIPA A>C	10	90975207	90975207	A	C	LIPA	c.967-389T>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975207A>C	(Likely) benign	1 lab	11911b07c5
11:47370459 MYBPC3 T>TTATATATATATATATATA	11	47370459	47370478	T	TTATATATATATATATATA	MYBPC3	c.655-385_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370461_47370478dup	(Likely) benign	1 lab	1191489a90
2:179638063 TTN G>C	2	179638063	179638063	G	C	TTN	c.7628C>G	NM_133378.4	NP_596869.4:p.(Thr2543Ser)	NC_000002.11:g.179638063G>C	VUS	1 lab	11924f1d51
5:37306311 MISSING A>Alt too long to show for this DUP	5	37306311	37667428	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.37306312_37667428dup	VUS	1 lab	1192940873
10:88451780 LDB3 C>T	10	88451780	88451780	C	T	LDB3	c.1021C>T	NM_001171610.2	NP_001165081.1:p.(Arg341Cys)	NC_000010.10:g.88451780C>T	VUS	1 lab	11933afb62
10:88441496 LDB3 G>A	10	88441496	88441496	G	A	LDB3	c.625G>A	NM_001171610.2	NP_001165081.1:p.(Glu209Lys)	NC_000010.10:g.88441496G>A	VUS	1 lab	1193b74d50
11:88911459 TYR CAG>C	11	88911459	88911466	CAG	C	TYR	c.344_345del	NM_000372.5	NP_000363.1:p.(Arg115ThrfsTer53)	NC_000011.9:g.88911465_88911466del	(Likely) pathogenic	1 lab	11978a2255
8:19822810 LPL CT>C	8	19822810	19822815	CT	C	LPL	c.1428-6del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822815del	(Likely) benign	1 lab	1198b4b75b
15:63319577 MISSING Ref too long to show for this DEL>T	15	63319577	63354210	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.63319578_63354210del	VUS	1 lab	119932ee8b
X:70444104 GJB1 C>T	X	70444104	70444104	C	T	GJB1	c.547C>T	NM_000166.6	NP_000157.1:p.(Arg183Cys)	NC_000023.10:g.70444104C>T	(Likely) pathogenic	1 lab	119b1dc4df
X:107977802 IRS4 G>GC	X	107977802	107977810	G	GC	IRS4	c.1772dup	NM_003604.2	NP_003595.1:p.(Lys592GlnfsTer12)	NC_000023.10:g.107977810dup	(Likely) pathogenic	1 lab	119b61a4ac
2:179547582 TTN T>C	2	179547582	179547582	T	C	TTN	c.32936A>G	NM_001267550.2	NP_001254479.2:p.(Glu10979Gly)	NC_000002.11:g.179547582T>C	VUS	1 lab	119daa5ad4
X:107977987 IRS4 G>GA	X	107977987	107977988	G	GA	IRS4	c.1587_1588insT	NM_003604.2	NP_003595.1:p.(Arg530SerfsTer18)	NC_000023.10:g.107977987_107977988insA	(Likely) pathogenic	1 lab	119e6c4223
17:3953101 MISSING T>Alt too long to show for this DUP	17	3953101	4122592	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.3953102_4122592dup	VUS	1 lab	11a45f8dbb
18:47088748 LIPG C>T	18	47088748	47088748	C	T	LIPG	c.70C>T	NM_006033.4	NP_006024.1:p.(Pro24Ser)	NC_000018.9:g.47088748C>T	(Likely) benign	1 lab	11a5b42304
7:30634581 GARS1 C>T	7	30634581	30634581	C	T	GARS1	c.44C>T	NM_002047.4	NP_002038.2:p.(Ala15Val)	NC_000007.13:g.30634581C>T	VUS	1 lab	11a70c5255
9:35806835 NPR2 C>T	9	35806835	35806835	C	T	NPR2	c.2520-185C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35806835C>T	(Likely) benign	1 lab	11a955bdff
20:42747275 JPH2 ATGTG>A	20	42747275	42747279	ATGTG	A	JPH2	c.1170-16_1170-13del	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42747276_42747279del	(Likely) benign	1 lab	11abd8d980
16:46744597 MYLK3 G>A	16	46744597	46744597	G	A	MYLK3	c.2219C>T	NM_182493.3	NP_872299.2:p.(Ser740Leu)	NC_000016.9:g.46744597G>A	VUS	1 lab	11ada3523a
19:11230872 LDLR G>A	19	11230872	11230872	G	A	LDLR	c.1950G>A	NM_000527.5	NP_000518.1:p.(Glu650=)	NC_000019.9:g.11230872G>A	(Likely) benign	1 lab	11aee2ebb6
11:116707387 APOA1 T>A	11	116707387	116707387	T	A	APOA1	c.-127-260A>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707387T>A	(Likely) benign	1 lab	11b038fc61
2:238263551 COL6A3 G>A	2	238263551	238263551	G	A	COL6A3	c.6618C>T	NM_004369.4	NP_004360.2:p.(Pro2206=)	NC_000002.11:g.238263551G>A	(Likely) benign	1 lab	11b0f47b41
2:220355242 SPEG C>T	2	220355242	220355242	C	T	SPEG	c.9033C>T	NM_005876.5	NP_005867.3:p.(Tyr3011=)	NC_000002.11:g.220355242C>T	(Likely) benign	1 lab	11b11c9a92
7:720366 PRKAR1B G>A	7	720366	720366	G	A	PRKAR1B	c.178-3C>T	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.720366G>A	(Likely) benign	1 lab	11b1937dfb
15:63353048 TPM1 G>A	15	63353048	63353048	G	A	TPM1	c.493-20G>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63353048G>A	(Likely) benign	1 lab	11b2c8d3ee
9:98231429 PTCH1 G>A	9	98231429	98231429	G	A	PTCH1	c.1854C>T	NM_000264.5	NP_000255.2:p.(Cys618=)	NC_000009.11:g.98231429G>A	(Likely) benign	1 lab	11b486b0aa
14:102515856 DYNC1H1 G>A	14	102515856	102515856	G	A	DYNC1H1	c.13452G>A	NM_001376.5	NP_001367.2:p.(Glu4484=)	NC_000014.8:g.102515856G>A	(Likely) benign	1 lab	11b85bb709
5:13866329 DNAH5 C>G	5	13866329	13866329	C	G	DNAH5	c.4116G>C	NM_001369.3	NP_001360.1:p.(Gln1372His)	NC_000005.9:g.13866329C>G	VUS	1 lab	11b9fcb06b
17:48268166 COL1A1 C>T	17	48268166	48268166	C	T	COL1A1	c.2343+12G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48268166C>T	(Likely) benign	1 lab	11ba97a085
3:57835519 SLMAP A>G	3	57835519	57835519	A	G	SLMAP	c.495A>G	NM_007159.5	NP_009090.2:p.(Leu165=)	NC_000003.11:g.57835519A>G	(Likely) benign	1 lab	11be93bd1d
2:179600549 TTN G>C	2	179600549	179600549	G	C	TTN	c.14624C>G	NM_001267550.2	NP_001254479.2:p.(Ala4875Gly)	NC_000002.11:g.179600549G>C	VUS	1 lab	11c02a0f0b
1:156099630 LMNA C>G	1	156099630	156099630	C	G	LMNA	c.357-778C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156099630C>G	(Likely) benign	1 lab	11c0e25d2a
3:48507980 TREX1 C>T	3	48507980	48507980	C	T	TREX1	c.-18-87C>T	NM_007248.5	NP_009179.2:p.?	NC_000003.11:g.48507980C>T	(Likely) benign	1 lab	11c47cfe70
X:77913291 RTL3 G>C	X	77913291	77913291	G	C	RTL3	c.627C>G	NM_152694.3	NP_689907.1:p.(Ser209=)	NC_000023.10:g.77913291G>C	(Likely) benign	1 lab	11c5aa2e2e
1:3102825 PRDM16 G>C	1	3102825	3102825	G	C	PRDM16	c.174G>C	NM_022114.4	NP_071397.3:p.(Glu58Asp)	NC_000001.10:g.3102825G>C	VUS	1 lab	11c726b03d
2:179588338 TTN G>C	2	179588338	179588338	G	C	TTN	c.21489C>G	NM_001267550.2	NP_001254479.2:p.(Thr7163=)	NC_000002.11:g.179588338G>C	(Likely) benign	1 lab	11ce338e15
6:135777070 AHI1 C>CA	6	135777070	135777077	C	CA	AHI1	c.1152-7dup	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135777077dup	(Likely) benign	1 lab	11d3da284c
7:99289550 MISSING Ref too long to show for this DEL>T	7	99289550	99659872	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.99289552_99659872del	VUS	1 lab	11d78ac521
11:1250445 MUC5B C>A	11	1250445	1250445	C	A	MUC5B	c.1022C>A	NM_002458.3	NP_002449.2:p.(Pro341His)	NC_000011.9:g.1250445C>A	(Likely) benign	1 lab	11dc2ec390
19:11231618 LDLR C>T	19	11231618	11231618	C	T	LDLR	c.2140+420C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231618C>T	(Likely) benign	1 lab	11dd55f553
10:85978999 CDHR1 T>C	10	85978999	85978999	T	C	CDHR1	c.2205T>C	NM_001171971.3	NP_001165442.1:p.(Ser735=)	NC_000010.10:g.85978999T>C	(Likely) benign	1 lab	11de05adf2
5:13714702 DNAH5 C>T	5	13714702	13714702	C	T	DNAH5	c.12937G>A	NM_001369.3	NP_001360.1:p.(Val4313Met)	NC_000005.9:g.13714702C>T	VUS	1 lab	11dec3f8db
15:92425369 SLCO3A1 Ref too long to show for this DEL>C	15	92425369	92522972	Ref too long to show for this DEL	C	SLCO3A1	c.180+28052_646+63284del	NM_013272.4	NP_037404.2:p.?	NC_000015.9:g.92425370_92522972del	VUS	1 lab	11e00120bf
12:122261468 SETD1B A>G	12	122261468	122261468	A	G	SETD1B	c.4983A>G	NM_001353345.2	NP_001340274.1:p.(Glu1661=)	NC_000012.11:g.122261468A>G	(Likely) benign	1 lab	11e71c39ca
X:118985742 UPF3B G>A	X	118985742	118985742	G	A	UPF3B	c.251C>T	NM_080632.3	NP_542199.1:p.(Ser84Phe)	NC_000023.10:g.118985742G>A	(Likely) benign	1 lab	11e8fd966b
7:100680313 MUC17 A>G	7	100680313	100680313	A	G	MUC17	c.5616A>G	NM_001040105.2	NP_001035194.1:p.(Ile1872Met)	NC_000007.13:g.100680313A>G	(Likely) benign	1 lab	11e9e86ce8
1:12056269 MFN2 C>T	1	12056269	12056269	C	T	MFN2	c.368C>T	NM_014874.4	NP_055689.1:p.(Pro123Leu)	NC_000001.10:g.12056269C>T	(Likely) pathogenic	1 lab	11eab47263
1:6528565 PLEKHG5 G>A	1	6528565	6528565	G	A	PLEKHG5	c.2331C>T	NM_198681.4	NP_941374.3:p.(Ser777=)	NC_000001.10:g.6528565G>A	(Likely) benign	1 lab	11eb79f7a2
9:107550773 ABCA1 C>G	9	107550773	107550773	C	G	ABCA1	c.6003G>C	NM_005502.4	NP_005493.2:p.(Leu2001Phe)	NC_000009.11:g.107550773C>G	VUS	1 lab	11ec0ce23b
15:45398798 DUOX2 G>A	15	45398798	45398798	G	A	DUOX2	c.1873C>T	NM_014080.5	NP_054799.4:p.(Arg625Ter)	NC_000015.9:g.45398798G>A	(Likely) pathogenic	1 lab	11f1a82233
3:38617968 SCN5A C>T	3	38617968	38617968	C	T	SCN5A	c.3508+184G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38617968C>T	(Likely) benign	1 lab	11f34316e4
2:179610836 TTN C>T	2	179610836	179610836	C	T	TTN	c.16291G>A	NM_133379.5	NP_596870.2:p.(Glu5431Lys)	NC_000002.11:g.179610836C>T	(Likely) benign	1 lab	11f3b6df0c
7:128481305 FLNC C>A	7	128481305	128481305	C	A	FLNC	c.1895C>A	NM_001458.5	NP_001449.3:p.(Pro632His)	NC_000007.13:g.128481305C>A	VUS	1 lab	11f4fa539b
2:179416718 TTN G>A	2	179416718	179416718	G	A	TTN	c.90909C>T	NM_001267550.2	NP_001254479.2:p.(Asn30303=)	NC_000002.11:g.179416718G>A	(Likely) benign	1 lab	11f5bfe831
19:45411963 APOE G>A	19	45411963	45411963	G	A	APOE	c.488G>A	NM_001302688.2	NP_001289617.1:p.(Arg163His)	NC_000019.9:g.45411963G>A	VUS	1 lab	11fbba3467
9:98211522 PTCH1 G>C	9	98211522	98211522	G	C	PTCH1	c.3633C>G	NM_000264.5	NP_000255.2:p.(Pro1211=)	NC_000009.11:g.98211522G>C	(Likely) benign	1 lab	11fc25482c
3:154801978 MME A>G	3	154801978	154801978	A	G	MME	c.22A>G	NM_007289.4	NP_009220.2:p.(Met8Val)	NC_000003.11:g.154801978A>G	(Likely) benign	1 lab	11fdad5fc5
X:7100179 STS Ref too long to show for this DEL>C	X	7100179	7124710	Ref too long to show for this DEL	C	STS	c.-133-8741_-5+15661del	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7100180_7124710del	VUS	1 lab	1200b83aed
22:32871365 FBXO7 G>A	22	32871365	32871365	G	A	FBXO7	c.17G>A	NM_001033024.2	NP_001028196.1:p.(Gly6Glu)	NC_000022.10:g.32871365G>A	(Likely) benign	1 lab	12030a9cf3
3:195505929 MUC4 GCC>G	3	195505929	195505931	GCC	G	MUC4	c.12520_12521del	NM_018406.7	NP_060876.5:p.(Gly4174HisfsTer15)	NC_000003.11:g.195505930_195505931del	(Likely) benign	1 lab	12060d45cc
4:25553880 MISSING Ref too long to show for this DEL>G	4	25553880	25748658	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.25553882_25748658del	(Likely) pathogenic	1 lab	120d4d9669
19:11240278 LDLR G>T	19	11240278	11240278	G	T	LDLR	c.2479G>T	NM_000527.5	NP_000518.1:p.(Val827Phe)	NC_000019.9:g.11240278G>T	(Likely) pathogenic	1 lab	1210332ce7
3:167512622 SERPINI1 T>G	3	167512622	167512622	T	G	SERPINI1	c.881+10T>G	NM_005025.5	NP_005016.1:p.?	NC_000003.11:g.167512622T>G	(Likely) benign	1 lab	1213c1f148
14:23896043 MYH7 G>T	14	23896043	23896043	G	T	MYH7	c.1987C>A	NM_000257.4	NP_000248.2:p.(Arg663Ser)	NC_000014.8:g.23896043G>T	(Likely) pathogenic	1 lab	1219138d93
9:135798833 TSC1 A>C	9	135798833	135798833	A	C	TSC1	c.410T>G	NM_000368.5	NP_000359.1:p.(Ile137Arg)	NC_000009.11:g.135798833A>C	VUS	1 lab	121be09f06
11:86662206 FZD4 T>C	11	86662206	86662206	T	C	FZD4	c.1592A>G	NM_012193.4	NP_036325.2:p.(Lys531Arg)	NC_000011.9:g.86662206T>C	VUS	1 lab	122381f8db
22:46086197 ATXN10 Ref too long to show for this DEL>T	22	46086197	46090252	Ref too long to show for this DEL	T	ATXN10	c.308+416_391+1294del	NM_013236.4	NP_037368.1:p.?	NC_000022.10:g.46086199_46090252del	VUS	1 lab	12253f9310
9:96717288 BARX1 T>G	9	96717288	96717288	T	G	BARX1	c.141A>C	NM_021570.4	NP_067545.3:p.(Ala47=)	NC_000009.11:g.96717288T>G	(Likely) benign	1 lab	1225b71d2d
2:189864089 COL3A1 C>G	2	189864089	189864089	C	G	COL3A1	c.2101C>G	NM_000090.4	NP_000081.2:p.(Pro701Ala)	NC_000002.11:g.189864089C>G	VUS	1 lab	1225b8a416
13:50129677 RCBTB1 A>C	13	50129677	50129677	A	C	RCBTB1	c.577T>G	NM_018191.4	NP_060661.3:p.(Ser193Ala)	NC_000013.10:g.50129677A>C	VUS	1 lab	122b7b2e21
2:21227339 APOB A>T	2	21227339	21227339	A	T	APOB	c.11904-15T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227339A>T	(Likely) benign	1 lab	122c46422e
6:57512931 PRIM2 G>GT	6	57512931	57512932	G	GT	PRIM2	c.*245del	NM_000947.5	NP_000938.2:p.?	NC_000006.11:g.57512931_57512932insT	(Likely) benign	1 lab	122d1a27dd
6:66005779 EYS C>T	6	66005779	66005779	C	T	EYS	c.2000G>A	NM_001292009.2	NP_001278938.1:p.(Arg667His)	NC_000006.11:g.66005779C>T	VUS	1 lab	122f4606ae
9:34996664 DNAJB5 G>A	9	34996664	34996664	G	A	DNAJB5	c.830G>A	NM_001135005.3	NP_001128477.1:p.(Arg277His)	NC_000009.11:g.34996664G>A	VUS	1 lab	122fb6cd6a
3:136047686 PCCB T>G	3	136047686	136047686	T	G	PCCB	c.1545T>G	NM_001178014.2	NP_001171485.1:p.(Pro515=)	NC_000003.11:g.136047686T>G	(Likely) benign	1 lab	1230b71e85
5:82834945 VCAN C>T	5	82834945	82834945	C	T	VCAN	c.6123C>T	NM_004385.5	NP_004376.2:p.(Ile2041=)	NC_000005.9:g.82834945C>T	(Likely) benign	1 lab	12358b784b
4:114276833 ANK2 A>G	4	114276833	114276833	A	G	ANK2	c.7059A>G	NM_001148.6	NP_001139.3:p.(Gln2353=)	NC_000004.11:g.114276833A>G	(Likely) benign	1 lab	123634e0b0
10:94393481 KIF11 C>T	10	94393481	94393481	C	T	KIF11	c.1804C>T	NM_004523.4	NP_004514.2:p.(Gln602Ter)	NC_000010.10:g.94393481C>T	(Likely) pathogenic	1 lab	1237adabdb
3:178927974 PIK3CA G>A	3	178927974	178927974	G	A	PIK3CA	c.1252G>A	NM_006218.4	NP_006209.2:p.(Glu418Lys)	NC_000003.11:g.178927974G>A	(Likely) pathogenic	1 lab	123d889ae4
7:103136351 RELN A>AAGGAAAATTGGAAGCAATATGGCATATTATTCTCTTG	7	103136351	103136426	A	AAGGAAAATTGGAAGCAATATGGCATATTATTCTCTTG	RELN	c.9194-43_9194-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103136390_103136426dup	(Likely) benign	1 lab	123d8ccce4
12:32996193 PKP2 G>A	12	32996193	32996193	G	A	PKP2	c.1433C>T	NM_004572.4	NP_004563.2:p.(Ala478Val)	NC_000012.11:g.32996193G>A	(Likely) benign	1 lab	123f091961
8:144295810 GPIHBP1 G>A	8	144295810	144295810	G	A	GPIHBP1	c.166G>A	NM_178172.6	NP_835466.2:p.(Gly56Ser)	NC_000008.10:g.144295810G>A	VUS	1 lab	1242e2050d
19:45411138 APOE G>C	19	45411138	45411138	G	C	APOE	c.243G>C	NM_001302688.2	NP_001289617.1:p.(Leu81=)	NC_000019.9:g.45411138G>C	(Likely) benign	1 lab	124699f851
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+54_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524374_55524391del	(Likely) benign	1 lab	1246a7ddf9
22:51092421 MISSING Ref too long to show for this DEL>G	22	51092421	51219009	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.51092422_51219009del	(Likely) pathogenic	1 lab	124da4967f
22:29090119 CHEK2 TGGGCAAATCACA>T	22	29090119	29090132	TGGGCAAATCACA	T	CHEK2	c.1376-26_1376-15del	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29090121_29090132del	VUS	1 lab	1250e4c55d
1:236911057 ACTN2 G>C	1	236911057	236911057	G	C	ACTN2	c.873G>C	NM_001278344.2	NP_001265273.1:p.(Lys291Asn)	NC_000001.10:g.236911057G>C	VUS	1 lab	125345db01
X:70444317 GJB1 G>GA	X	70444317	70444318	G	GA	GJB1	c.761dup	NM_000166.6	NP_000157.1:p.(Gln255AlafsTer21)	NC_000023.10:g.70444318dup	(Likely) pathogenic	1 lab	1253e82b2c
7:17962987 MISSING G>Alt too long to show for this DUP	7	17962987	18441283	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.17962989_18441283dup	VUS	1 lab	12542b3f18
9:107599795 ABCA1 T>A	9	107599795	107599795	T	A	ABCA1	c.1108A>T	NM_005502.4	NP_005493.2:p.(Ile370Phe)	NC_000009.11:g.107599795T>A	(Likely) pathogenic	1 lab	1257cc16b1
6:112430670 LAMA4 G>A	6	112430670	112430670	G	A	LAMA4	c.5442C>T	NM_001105206.3	NP_001098676.2:p.(Ala1814=)	NC_000006.11:g.112430670G>A	(Likely) benign	1 lab	125cf6a0d4
2:179638282 TTN G>A	2	179638282	179638282	G	A	TTN	c.7501C>T	NM_001267550.2	NP_001254479.2:p.(Arg2501Ter)	NC_000002.11:g.179638282G>A	(Likely) pathogenic	1 lab	1263a80839
10:69970212 MYPN A>G	10	69970212	69970212	A	G	MYPN	c.3963A>G	NM_032578.4	NP_115967.2:p.(Ter1321=)	NC_000010.10:g.69970212A>G	(Likely) benign	1 lab	1264a6231b
15:72037408 THSD4 G>A	15	72037408	72037408	G	A	THSD4	c.827-37G>A	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72037408G>A	(Likely) benign	1 lab	12675f6c15
11:47367812 MYBPC3 G>A	11	47367812	47367812	G	A	MYBPC3	c.1036C>T	NM_000256.3	NP_000247.2:p.(Arg346Cys)	NC_000011.9:g.47367812G>A	VUS	1 lab	126762ee81
8:145583630 SLC52A2 G>A	8	145583630	145583630	G	A	SLC52A2	c.478G>A	NM_001363118.2	NP_001350047.1:p.(Val160Met)	NC_000008.10:g.145583630G>A	VUS	1 lab	1269a96fbc
19:11218189 LDLR C>A	19	11218189	11218189	C	A	LDLR	c.939C>A	NM_000527.5	NP_000518.1:p.(Cys313Ter)	NC_000019.9:g.11218189C>A	(Likely) pathogenic	1 lab	126ac5c0f1
9:95481391 BICD2 G>A	9	95481391	95481391	G	A	BICD2	c.1536C>T	NM_001003800.2	NP_001003800.1:p.(Val512=)	NC_000009.11:g.95481391G>A	(Likely) benign	1 lab	126f120a0b
16:89839752 FANCA C>T	16	89839752	89839752	C	T	FANCA	c.1941G>A	NM_000135.4	NP_000126.2:p.(Glu647=)	NC_000016.9:g.89839752C>T	(Likely) benign	1 lab	1270029930
16:87433013 MISSING Ref too long to show for this DEL>C	16	87433013	87466943	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.87433014_87466943del	VUS	1 lab	127448a7a9
X:56291624 KLF8 T>C	X	56291624	56291624	T	C	KLF8	c.93T>C	NM_007250.5	NP_009181.2:p.(Ser31=)	NC_000023.10:g.56291624T>C	(Likely) benign	1 lab	12757365ea
6:42146963 GUCA1ANB-GUCA1A C>A	6	42146963	42146963	C	A	GUCA1ANB-GUCA1A	c.446-18C>A	NM_000409.5	NP_000400.2:p.?	NC_000006.11:g.42146963C>A	(Likely) benign	1 lab	1275f71683
2:44052118 ABCG5 T>C	2	44052118	44052118	T	C	ABCG5	c.814A>G	NM_022436.3	NP_071881.1:p.(Ile272Val)	NC_000002.11:g.44052118T>C	VUS	1 lab	127a823056
14:100813077 WARS1 T>C	14	100813077	100813077	T	C	WARS1	c.826+6A>G	NM_004184.4	NP_004175.2:p.?	NC_000014.8:g.100813077T>C	(Likely) benign	1 lab	127ad9a4c2
5:112128073 APC C>T	5	112128073	112128073	C	T	APC	c.646-70C>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112128073C>T	(Likely) benign	1 lab	127bae7753
16:57931396 CNGB1 G>A	16	57931396	57931396	G	A	CNGB1	c.3147C>T	NM_001297.5	NP_001288.3:p.(His1049=)	NC_000016.9:g.57931396G>A	(Likely) benign	1 lab	127cafd685
22:31332494 MORC2 G>A	22	31332494	31332494	G	A	MORC2	c.1551+4C>T	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31332494G>A	(Likely) benign	1 lab	127d0e9ccc
2:73678424 ALMS1 A>G	2	73678424	73678424	A	G	ALMS1	c.4773A>G	NM_015120.4	NP_055935.4:p.(Leu1591=)	NC_000002.11:g.73678424A>G	(Likely) benign	1 lab	127f2d06dc
3:49084007 QRICH1 G>A	3	49084007	49084007	G	A	QRICH1	c.1522C>T	NM_001320581.2	NP_001307510.1:p.(Gln508Ter)	NC_000003.11:g.49084007G>A	(Likely) pathogenic	1 lab	12803427d2
9:107558752 ABCA1 A>G	9	107558752	107558752	A	G	ABCA1	c.5122-47T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558752A>G	(Likely) benign	1 lab	1286470042
19:18266970 PIK3R2 G>A	19	18266970	18266970	G	A	PIK3R2	c.281G>A	NM_005027.4	NP_005018.2:p.(Arg94His)	NC_000019.9:g.18266970G>A	VUS	1 lab	1289e14cd6
1:156845893 NTRK1 G>GGGGACATC	1	156845893	156845896	G	GGGGACATC	NTRK1	c.1525_1526insGACATCGG	NM_002529.4	NP_002520.2:p.(Asp509GlyfsTer41)	NC_000001.10:g.156845895_156845896insGACATCGG	(Likely) pathogenic	1 lab	128f590e2d
3:70000982 MITF G>A	3	70000982	70000982	G	A	MITF	c.882G>A	NM_198159.3	NP_937802.1:p.(Glu294=)	NC_000003.11:g.70000982G>A	(Likely) benign	1 lab	129471ba70
16:9004672 USP7 A>T	16	9004672	9004672	A	T	USP7	c.1091T>A	NM_003470.3	NP_003461.2:p.(Phe364Tyr)	NC_000016.9:g.9004672A>T	VUS	1 lab	1294ff13bf
15:48791111 FBN1 G>C	15	48791111	48791111	G	C	FBN1	c.2167+71C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48791111G>C	(Likely) benign	1 lab	129560e14c
11:6640023 TPP1 G>A	11	6640023	6640023	G	A	TPP1	c.213C>T	NM_000391.4	NP_000382.3:p.(Pro71=)	NC_000011.9:g.6640023G>A	(Likely) benign	1 lab	1296731ca8
11:47358170 MYBPC3 T>C	11	47358170	47358170	T	C	MYBPC3	c.2603-608A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358170T>C	(Likely) benign	1 lab	1297ba0abb
6:7569559 DSP G>A	6	7569559	7569559	G	A	DSP	c.1560G>A	NM_004415.4	NP_004406.2:p.(Val520=)	NC_000006.11:g.7569559G>A	(Likely) benign	1 lab	1299f029ce
12:52159476 SCN8A A>G	12	52159476	52159476	A	G	SCN8A	c.2566A>G	NM_014191.4	NP_055006.1:p.(Lys856Glu)	NC_000012.11:g.52159476A>G	VUS	1 lab	129b405180
14:102494078 DYNC1H1 G>A	14	102494078	102494078	G	A	DYNC1H1	c.9171G>A	NM_001376.5	NP_001367.2:p.(Gln3057=)	NC_000014.8:g.102494078G>A	(Likely) benign	1 lab	129dd62003
16:70305813 AARS1 G>A	16	70305813	70305813	G	A	AARS1	c.542C>T	NM_001605.3	NP_001596.2:p.(Thr181Met)	NC_000016.9:g.70305813G>A	VUS	1 lab	129ec1e95b
4:122590883 ANXA5 T>TA	4	122590883	122590898	T	TA	ANXA5	c.781-5dup	NM_001154.4	NP_001145.1:p.?	NC_000004.11:g.122590898dup	(Likely) benign	1 lab	12a4e3736f
19:49714351 TRPM4 C>T	19	49714351	49714351	C	T	TRPM4	c.3534+7C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49714351C>T	(Likely) benign	1 lab	12a53e1c8a
2:220502425 SLC4A3 G>A	2	220502425	220502425	G	A	SLC4A3	c.2739G>A	NM_201574.3	NP_963868.3:p.(Pro913=)	NC_000002.11:g.220502425G>A	(Likely) benign	1 lab	12a835fab3
19:55317497 KIR2DL4 C>A	19	55317497	55317497	C	A	KIR2DL4	c.453C>A	NM_001080772.2	NP_001074241.1:p.(Ser151=)	NC_000019.9:g.55317497C>A	(Likely) benign	1 lab	12aa75cbae
19:48343048 CRX G>A	19	48343048	48343048	G	A	CRX	c.724G>A	NM_000554.6	NP_000545.1:p.(Val242Met)	NC_000019.9:g.48343048G>A	(Likely) benign	1 lab	12abd70ba2
10:18827163 CACNB2 C>T	10	18827163	18827163	C	T	CACNB2	c.1192C>T	NM_000724.4	NP_000715.2:p.(Leu398Phe)	NC_000010.10:g.18827163C>T	VUS	1 lab	12ac6c7b15
1:160252205 PEX19 A>G	1	160252205	160252205	A	G	PEX19	c.432+2T>C	NM_002857.4	NP_002848.1:p.?	NC_000001.10:g.160252205A>G	(Likely) pathogenic	1 lab	12afced019
1:236881455 ACTN2 G>A	1	236881455	236881455	G	A	ACTN2	c.241+183G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236881455G>A	(Likely) benign	1 lab	12b4ff92d5
17:58740364 PPM1D G>GGA	17	58740364	58740367	G	GGA	PPM1D	c.1271_1272dup	NM_003620.4	NP_003611.1:p.(Asp425ArgfsTer7)	NC_000017.10:g.58740366_58740367dup	(Likely) pathogenic	1 lab	12b9de8f23
1:19550004 EMC1 G>A	1	19550004	19550004	G	A	EMC1	c.2262C>T	NM_015047.3	NP_055862.1:p.(Arg754=)	NC_000001.10:g.19550004G>A	(Likely) benign	1 lab	12ba68b252
18:77718807 MISSING T>Alt too long to show for this DUP	18	77718807	77793503	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.77718809_77793503dup	VUS	1 lab	12bc5e0601
2:148723472 MISSING Ref too long to show for this DEL>A	2	148723472	148833885	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.148723473_148833885del	(Likely) pathogenic	1 lab	12bca6b66e
12:2788657 CACNA1C C>T	12	2788657	2788657	C	T	CACNA1C	c.5283C>T	NM_199460.4	NP_955630.3:p.(Asp1761=)	NC_000012.11:g.2788657C>T	(Likely) benign	1 lab	12bf73c91b
9:107548676 ABCA1 G>A	9	107548676	107548676	G	A	ABCA1	c.6309-5C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548676G>A	(Likely) benign	1 lab	12c39fbd35
2:47709907 MSH2 A>G	2	47709907	47709907	A	G	MSH2	c.2635-11A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47709907A>G	(Likely) benign	1 lab	12c571b6f8
15:85384174 ALPK3 G>T	15	85384174	85384174	G	T	ALPK3	c.1653+11G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85384174G>T	(Likely) benign	1 lab	12cb5204c3
2:43603651 THADA Ref too long to show for this DEL>A	2	43603651	43639632	Ref too long to show for this DEL	A	THADA	c.4059-14353_4227+21458del	NM_022065.5	NP_071348.3:p.?	NC_000002.11:g.43603653_43639632del	VUS	1 lab	12cc490828
16:77393238 ADAMTS18 G>A	16	77393238	77393238	G	A	ADAMTS18	c.1299C>T	NM_199355.4	NP_955387.1:p.(Thr433=)	NC_000016.9:g.77393238G>A	(Likely) benign	1 lab	12cea55e18
10:89717594 PTEN G>GTA	10	89717594	89717597	G	GTA	PTEN	c.635-14_635-13dup	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89717596_89717597dup	(Likely) benign	1 lab	12cecdb166
X:153296233 MECP2 CTCTCCTTGCT>C	X	153296233	153296244	CTCTCCTTGCT	C	MECP2	c.1036_1045del	NM_004992.4	NP_004983.1:p.(Ser346AlafsTer60)	NC_000023.10:g.153296235_153296244del	(Likely) pathogenic	1 lab	12cf1cd027
17:41267807 BRCA1 A>AG	17	41267807	41267814	A	AG	BRCA1	c.81-12dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267814dup	(Likely) benign	1 lab	12d5cb01dc
11:47366389 MYBPC3 T>C	11	47366389	47366389	T	C	MYBPC3	c.1091-1214A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366389T>C	(Likely) benign	1 lab	12d8460c8d
2:44102560 ABCG8 CT>C	2	44102560	44102561	CT	C	ABCG8	c.1756+9del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102561del	(Likely) benign	1 lab	12db5a3074
17:42428419 GRN C>T	17	42428419	42428419	C	T	GRN	c.723C>T	NM_002087.4	NP_002078.1:p.(Ser241=)	NC_000017.10:g.42428419C>T	(Likely) benign	1 lab	12e6c1dda5
12:21375306 SLCO1B1 GAAAAAAA>G	12	21375306	21375332	GAAAAAAA	G	SLCO1B1	c.1747+28_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375326_21375332del	(Likely) benign	1 lab	12e85f3deb
20:45354305 SLC2A10 C>T	20	45354305	45354305	C	T	SLC2A10	c.630C>T	NM_030777.4	NP_110404.1:p.(Gly210=)	NC_000020.10:g.45354305C>T	(Likely) benign	1 lab	12ee1eae83
8:1905088 ARHGEF10 C>G	8	1905088	1905088	C	G	ARHGEF10	c.3766C>G	NM_001308153.2	NP_001295082.1:p.(Leu1256Val)	NC_000008.10:g.1905088C>G	(Likely) benign	1 lab	12ef98b26a
13:77566277 CLN5 G>GGGGCGC	13	77566277	77566291	G	GGGGCGC	CLN5	c.53_58dup	NM_006493.4	NP_006484.2:p.(Gly18_Ala19dup)	NC_000013.10:g.77566286_77566291dup	(Likely) benign	1 lab	12eff28a9e
10:81470196 NUTM2B G>A	10	81470196	81470196	G	A	NUTM2B	c.1410G>A	NM_001278495.2	NP_001265424.1:p.(Arg470=)	NC_000010.10:g.81470196G>A	(Likely) benign	1 lab	12f2cbcb82
12:125348221 SCARB1 C>T	12	125348221	125348221	C	T	SCARB1	c.46G>A	NM_001367981.1	NP_001354910.1:p.(Val16Ile)	NC_000012.11:g.125348221C>T	VUS	1 lab	12f66b230b
8:1833801 ARHGEF10 G>C	8	1833801	1833801	G	C	ARHGEF10	c.1185G>C	NM_001308153.2	NP_001295082.1:p.(Leu395Phe)	NC_000008.10:g.1833801G>C	(Likely) benign	1 lab	12fe2f887e
19:15297699 NOTCH3 A>G	19	15297699	15297699	A	G	NOTCH3	c.1941T>C	NM_000435.3	NP_000426.2:p.(Pro647=)	NC_000019.9:g.15297699A>G	(Likely) benign	1 lab	12ff06cde4
3:38674145 SCN5A G>A	3	38674145	38674145	G	A	SCN5A	c.273+381C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38674145G>A	(Likely) benign	1 lab	1304c531e5
2:179599470 TTN C>T	2	179599470	179599470	C	T	TTN	c.15181G>A	NM_001267550.2	NP_001254479.2:p.(Gly5061Ser)	NC_000002.11:g.179599470C>T	VUS	1 lab	130692e032
6:129419334 LAMA2 A>G	6	129419334	129419334	A	G	LAMA2	c.413A>G	NM_000426.4	NP_000417.3:p.(Tyr138Cys)	NC_000006.11:g.129419334A>G	VUS	1 lab	130bd336f3
17:6337381 AIPL1 T>C	17	6337381	6337381	T	C	AIPL1	c.134A>G	NM_014336.5	NP_055151.3:p.(Glu45Gly)	NC_000017.10:g.6337381T>C	(Likely) benign	1 lab	130db34ad8
4:55979558 KDR C>T	4	55979558	55979558	C	T	KDR	c.889G>A	NM_002253.3	NP_002244.1:p.(Val297Ile)	NC_000004.11:g.55979558C>T	(Likely) benign	1 lab	130f19a144
4:123269814 BLTP1 A>G	4	123269814	123269814	A	G	BLTP1	c.13222A>G	NM_015312.4	NP_056127.2:p.(Ile4408Val)	NC_000004.11:g.123269814A>G	VUS	1 lab	130f922446
9:107594007 ABCA1 C>T	9	107594007	107594007	C	T	ABCA1	c.1611G>A	NM_005502.4	NP_005493.2:p.(Val537=)	NC_000009.11:g.107594007C>T	(Likely) benign	1 lab	131315a2d0
5:86685202 RASA1 C>T	5	86685202	86685202	C	T	RASA1	c.2926-8C>T	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86685202C>T	(Likely) benign	1 lab	13166a3b44
7:128035222 IMPDH1 T>G	7	128035222	128035222	T	G	IMPDH1	c.1368A>C	NM_000883.4	NP_000874.2:p.(Gly456=)	NC_000007.13:g.128035222T>G	(Likely) benign	1 lab	1316d584d2
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+27_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948349_133948371dup	(Likely) benign	1 lab	131b0ad4d8
6:31750934 VARS1 T>C	6	31750934	31750934	T	C	VARS1	c.1701A>G	NM_006295.3	NP_006286.1:p.(Pro567=)	NC_000006.11:g.31750934T>C	(Likely) benign	1 lab	131e3f7de8
2:182409489 CERKL G>A	2	182409489	182409489	G	A	CERKL	c.1381C>T	NM_001030311.3	NP_001025482.1:p.(Arg461Ter)	NC_000002.11:g.182409489G>A	(Likely) pathogenic	1 lab	131f84ece1
22:33440620 MISSING C>Alt too long to show for this DUP	22	33440620	33711556	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.33440621_33711556dup	VUS	1 lab	1320134e4a
2:189853052 COL3A1 T>C	2	189853052	189853052	T	C	COL3A1	c.582+192T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853052T>C	(Likely) benign	1 lab	13226a731a
2:179605456 TTN C>T	2	179605456	179605456	C	T	TTN	c.12504G>A	NM_001267550.2	NP_001254479.2:p.(Met4168Ile)	NC_000002.11:g.179605456C>T	VUS	1 lab	1322d7df4b
2:183050450 PDE1A Ref too long to show for this DEL>A	2	183050450	183154443	Ref too long to show for this DEL	A	PDE1A	c.54-25302_1516+168del	NM_001363871.4	NP_001350800.1:p.?	NC_000002.11:g.183050451_183154443del	VUS	1 lab	13245a6b9b
11:95569299 MTMR2 GTAAGGC>G	11	95569299	95569305	GTAAGGC	G	MTMR2	c.1554+7_1554+12del	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95569300_95569305del	(Likely) benign	1 lab	1325907444
6:64431514 EYS T>TTG	6	64431514	64431516	T	TTG	EYS	c.8412_8413insCA	NM_001142800.2	NP_001136272.1:p.(Thr2805GlnfsTer9)	NC_000006.11:g.64431515_64431516insGT	(Likely) pathogenic	1 lab	1325ad9069
16:77334321 ADAMTS18 A>C	16	77334321	77334321	A	C	ADAMTS18	c.2533-20T>G	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77334321A>C	(Likely) benign	1 lab	13283e7bcb
13:111134945 COL4A2 C>T	13	111134945	111134945	C	T	COL4A2	c.2841C>T	NM_001846.4	NP_001837.2:p.(Gly947=)	NC_000013.10:g.111134945C>T	VUS	1 lab	13287c7d44
2:231490776 MISSING Ref too long to show for this DEL>C	2	231490776	231666199	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.231490779_231666199del	VUS	1 lab	132aafb0d6
10:93841262 CPEB3 C>CA	10	93841262	93841272	C	CA	CPEB3	c.1688-5dup	NM_014912.5	NP_055727.3:p.?	NC_000010.10:g.93841272dup	(Likely) benign	1 lab	132bb26040
9:137721597 COL5A1 C>G	9	137721597	137721597	C	G	COL5A1	c.5068-225C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137721597C>G	(Likely) benign	1 lab	132cdb7d68
6:100868672 SIM1 G>A	6	100868672	100868672	G	A	SIM1	c.1161C>T	NM_005068.3	NP_005059.2:p.(Tyr387=)	NC_000006.11:g.100868672G>A	(Likely) benign	1 lab	132ed8699f
16:67974117 LCAT A>T	16	67974117	67974117	A	T	LCAT	c.1013T>A	NM_000229.2	NP_000220.1:p.(Leu338His)	NC_000016.9:g.67974117A>T	(Likely) pathogenic	1 lab	132f19c0f3
12:49484182 DHH C>T	12	49484182	49484182	C	T	DHH	c.651G>A	NM_021044.4	NP_066382.1:p.(Arg217=)	NC_000012.11:g.49484182C>T	(Likely) benign	1 lab	132f81c1ff
3:10133895 FANCD2 A>G	3	10133895	10133895	A	G	FANCD2	c.3808A>G	NM_033084.6	NP_149075.2:p.(Met1270Val)	NC_000003.11:g.10133895A>G	VUS	1 lab	13308e466a
19:47259343 FKRP G>A	19	47259343	47259343	G	A	FKRP	c.636G>A	NM_001039885.3	NP_001034974.1:p.(Ala212=)	NC_000019.9:g.47259343G>A	(Likely) benign	1 lab	13326cfe93
10:69966660 MYPN G>A	10	69966660	69966660	G	A	MYPN	c.3793G>A	NM_032578.4	NP_115967.2:p.(Ala1265Thr)	NC_000010.10:g.69966660G>A	VUS	1 lab	1333c70674
22:41904072 ACO2 T>C	22	41904072	41904072	T	C	ACO2	c.432+19T>C	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41904072T>C	(Likely) benign	1 lab	1339f8fe5f
15:48818405 FBN1 A>G	15	48818405	48818405	A	G	FBN1	c.910T>C	NM_000138.5	NP_000129.3:p.(Cys304Arg)	NC_000015.9:g.48818405A>G	(Likely) pathogenic	1 lab	133b7fefd2
18:34349354 FHOD3 G>A	18	34349354	34349354	G	A	FHOD3	c.4751G>A	NM_001281740.3	NP_001268669.1:p.(Arg1584Lys)	NC_000018.9:g.34349354G>A	(Likely) benign	1 lab	13463bdfd4
4:122800971 TRPC3 T>C	4	122800971	122800971	T	C	TRPC3	c.2602A>G	NM_001366479.2	NP_001353408.1:p.(Ser868Gly)	NC_000004.11:g.122800971T>C	(Likely) benign	1 lab	1347e0ae8a
2:179396957 TTN C>T	2	179396957	179396957	C	T	TTN	c.104385G>A	NM_001267550.2	NP_001254479.2:p.(Lys34795=)	NC_000002.11:g.179396957C>T	(Likely) benign	1 lab	134826b645
12:49433572 KMT2D G>A	12	49433572	49433572	G	A	KMT2D	c.7981C>T	NM_003482.4	NP_003473.3:p.(Leu2661Phe)	NC_000012.11:g.49433572G>A	VUS	1 lab	134a0218f4
1:46588436 MISSING T>Alt too long to show for this DUP	1	46588436	46761785	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.46588438_46761785dup	VUS	1 lab	134c497b44
12:48379530 COL2A1 G>A	12	48379530	48379530	G	A	COL2A1	c.1661C>T	NM_001844.5	NP_001835.3:p.(Pro554Leu)	NC_000012.11:g.48379530G>A	VUS	1 lab	134c5d26fb
1:237604793 RYR2 T>C	1	237604793	237604793	T	C	RYR2	c.1170+10T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237604793T>C	(Likely) benign	1 lab	134d397ae0
7:127892146 LEP A>G	7	127892146	127892146	A	G	LEP	c.75A>G	NM_000230.3	NP_000221.1:p.(Gln25=)	NC_000007.13:g.127892146A>G	(Likely) benign	1 lab	134e1e1360
6:45144061 SUPT3H Ref too long to show for this DEL>G	6	45144061	45178873	Ref too long to show for this DEL	G	SUPT3H	c.102-105130_102-70319del	NM_003599.4	NP_003590.1:p.?	NC_000006.11:g.45144062_45178873del	(Likely) pathogenic	1 lab	135007a69b
X:135958704 RBMX G>C	X	135958704	135958704	G	C	RBMX	c.499C>G	NM_002139.4	NP_002130.2:p.(Pro167Ala)	NC_000023.10:g.135958704G>C	(Likely) benign	1 lab	13517a9be7
2:179470215 TTN C>T	2	179470215	179470215	C	T	TTN	c.53807G>A	NM_001267550.2	NP_001254479.2:p.(Arg17936His)	NC_000002.11:g.179470215C>T	VUS	1 lab	13553eaef6
12:125298935 SCARB1 A>G	12	125298935	125298935	A	G	SCARB1	c.443T>C	NM_005505.5	NP_005496.4:p.(Met148Thr)	NC_000012.11:g.125298935A>G	VUS	1 lab	1355b00d48
18:29104456 DSG2 G>C	18	29104456	29104456	G	C	DSG2	c.736G>C	NM_001943.5	NP_001934.2:p.(Gly246Arg)	NC_000018.9:g.29104456G>C	VUS	1 lab	1357e65bfe
9:107620332 ABCA1 G>A	9	107620332	107620332	G	A	ABCA1	c.720+471C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620332G>A	(Likely) benign	1 lab	135973cfbb
19:47259121 FKRP T>A	19	47259121	47259121	T	A	FKRP	c.414T>A	NM_001039885.3	NP_001034974.1:p.(Pro138=)	NC_000019.9:g.47259121T>A	(Likely) benign	1 lab	135aa33242
16:29432212 MISSING Ref too long to show for this DEL>A	16	29432212	30191849	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29432214_30191849del	(Likely) pathogenic	1 lab	135bca1cc8
1:214820206 CENPF G>A	1	214820206	214820206	G	A	CENPF	c.7293G>A	NM_016343.4	NP_057427.3:p.(Gln2431=)	NC_000001.10:g.214820206G>A	(Likely) benign	1 lab	1361736495
16:85689459 GSE1 G>A	16	85689459	85689459	G	A	GSE1	c.925G>A	NM_014615.5	NP_055430.1:p.(Glu309Lys)	NC_000016.9:g.85689459G>A	VUS	1 lab	13629248df
2:179463446 TTN TA>T	2	179463446	179463454	TA	T	TTN	c.56962+28del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463454del	(Likely) benign	1 lab	13649ca269
7:128482656 FLNC G>A	7	128482656	128482656	G	A	FLNC	c.2293G>A	NM_001458.5	NP_001449.3:p.(Glu765Lys)	NC_000007.13:g.128482656G>A	VUS	1 lab	1366bab9d4
15:48744552 FBN1 TC>T	15	48744552	48744553	TC	T	FBN1	c.5545+206del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48744553del	(Likely) benign	1 lab	1369b0c969
15:58837764 LIPC A>G	15	58837764	58837764	A	G	LIPC	c.575-177A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837764A>G	(Likely) benign	1 lab	1370b1d884
2:179417634 TTN G>A	2	179417634	179417634	G	A	TTN	c.82289C>T	NM_133378.4	NP_596869.4:p.(Ser27430Leu)	NC_000002.11:g.179417634G>A	VUS	1 lab	1371cadc40
9:140677240 MISSING Ref too long to show for this DEL>A	9	140677240	140953106	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.140677241_140953106del	(Likely) pathogenic	1 lab	13729a3bdb
6:100838282 SIM1 T>C	6	100838282	100838282	T	C	SIM1	c.2256A>G	NM_005068.3	NP_005059.2:p.(Ala752=)	NC_000006.11:g.100838282T>C	(Likely) benign	1 lab	13760a0d05
15:80452136 FAH C>T	15	80452136	80452136	C	T	FAH	c.231C>T	NM_000137.4	NP_000128.1:p.(Ala77=)	NC_000015.9:g.80452136C>T	(Likely) benign	1 lab	137d0afae4
9:111656342 ELP1 G>A	9	111656342	111656342	G	A	ELP1	c.2741C>T	NM_003640.5	NP_003631.2:p.(Pro914Leu)	NC_000009.11:g.111656342G>A	(Likely) pathogenic	1 lab	137df0e27b
X:70443616 GJB1 T>G	X	70443616	70443616	T	G	GJB1	c.59T>G	NM_000166.6	NP_000157.1:p.(Ile20Ser)	NC_000023.10:g.70443616T>G	(Likely) pathogenic	1 lab	137e632b44
19:11231154 LDLR C>T	19	11231154	11231154	C	T	LDLR	c.2096C>T	NM_000527.5	NP_000518.1:p.(Pro699Leu)	NC_000019.9:g.11231154C>T	(Likely) pathogenic	1 lab	1380303e9a
5:34925328 BRIX1 T>TA	5	34925328	34925329	T	TA	BRIX1	c.793-2dup	NM_018321.4	NP_060791.3:p.?	NC_000005.9:g.34925329dup	(Likely) benign	1 lab	13808c3dbf
X:9864522 SHROOM2 G>A	X	9864522	9864522	G	A	SHROOM2	c.2574G>A	NM_001649.4	NP_001640.1:p.(Ala858=)	NC_000023.10:g.9864522G>A	(Likely) benign	1 lab	1383642eb5
6:112430772 LAMA4 T>C	6	112430772	112430772	T	C	LAMA4	c.5340A>G	NM_001105206.3	NP_001098676.2:p.(Thr1780=)	NC_000006.11:g.112430772T>C	(Likely) benign	1 lab	1386130bc0
2:189866546 COL3A1 G>A	2	189866546	189866546	G	A	COL3A1	c.2391+231G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866546G>A	(Likely) benign	1 lab	138c94500b
8:3722584 CSMD1 Ref too long to show for this DEL>C	8	3722584	4103402	Ref too long to show for this DEL	C	CSMD1	c.415+174073_819-111021del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3722585_4103402del	VUS	1 lab	138c96a810
9:135205521 SETX G>A	9	135205521	135205521	G	A	SETX	c.1464C>T	NM_015046.7	NP_055861.3:p.(Ala488=)	NC_000009.11:g.135205521G>A	(Likely) benign	1 lab	138cc478fe
2:62067724 FAM161A A>C	2	62067724	62067724	A	C	FAM161A	c.423-8T>G	NM_001201543.2	NP_001188472.1:p.?	NC_000002.11:g.62067724A>C	(Likely) benign	1 lab	138ed12391
14:21769259 RPGRIP1 G>A	14	21769259	21769259	G	A	RPGRIP1	c.353G>A	NM_020366.4	NP_065099.3:p.(Arg118His)	NC_000014.8:g.21769259G>A	VUS	1 lab	138f523129
7:100859233 PLOD3 C>T	7	100859233	100859233	C	T	PLOD3	c.571G>A	NM_001084.5	NP_001075.1:p.(Asp191Asn)	NC_000007.13:g.100859233C>T	VUS	1 lab	13957f4e85
11:47370459 MYBPC3 T>TTATATATATATATATATATGTA	11	47370459	47370479	T	TTATATATATATATATATATGTA	MYBPC3	c.655-368_655-367insTACATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insGTATATATATATATATATATAT	(Likely) benign	1 lab	1399f4552e
13:49033812 RB1 T>C	13	49033812	49033812	T	C	RB1	c.1961-12T>C	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49033812T>C	(Likely) benign	1 lab	139d1c5f2e
15:58834865 LIPC T>C	15	58834865	58834865	T	C	LIPC	c.574+15T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834865T>C	(Likely) benign	1 lab	13a22d5a34
1:25891660 LDLRAP1 C>T	1	25891660	25891660	C	T	LDLRAP1	c.748-4C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891660C>T	VUS	1 lab	13a5ca7a90
X:70443958 GJB1 C>A	X	70443958	70443958	C	A	GJB1	c.401C>A	NM_000166.6	NP_000157.1:p.(Thr134Asn)	NC_000023.10:g.70443958C>A	VUS	1 lab	13a7692304
6:75866153 COL12A1 C>T	6	75866153	75866153	C	T	COL12A1	c.3070G>A	NM_004370.6	NP_004361.3:p.(Val1024Ile)	NC_000006.11:g.75866153C>T	(Likely) benign	1 lab	13ac1c7d60
19:11221366 LDLR C>T	19	11221366	11221366	C	T	LDLR	c.979C>T	NM_000527.5	NP_000518.1:p.(His327Tyr)	NC_000019.9:g.11221366C>T	(Likely) pathogenic	1 lab	13ae24061f
19:11218138 LDLR C>A	19	11218138	11218138	C	A	LDLR	c.888C>A	NM_000527.5	NP_000518.1:p.(Cys296Ter)	NC_000019.9:g.11218138C>A	(Likely) pathogenic	1 lab	13afbd5a9d
1:55509355 PCSK9 C>T	1	55509355	55509355	C	T	PCSK9	c.208-161C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509355C>T	(Likely) benign	1 lab	13b00b8145
16:70293036 AARS1 G>A	16	70293036	70293036	G	A	AARS1	c.1839C>T	NM_001605.3	NP_001596.2:p.(Phe613=)	NC_000016.9:g.70293036G>A	(Likely) benign	1 lab	13b1f12c42
12:43840366 ADAMTS20 Ref too long to show for this DEL>A	12	43840366	43875548	Ref too long to show for this DEL	A	ADAMTS20	c.1117+8651_2197+31del	NM_025003.5	NP_079279.3:p.?	NC_000012.11:g.43840368_43875548del	VUS	1 lab	13b25220dd
12:124393827 DNAH10 A>G	12	124393827	124393827	A	G	DNAH10	c.9481A>G	NM_207437.3	NP_997320.2:p.(Lys3161Glu)	NC_000012.11:g.124393827A>G	(Likely) benign	1 lab	13b6827386
10:26464679 MYO3A Ref too long to show for this DEL>G	10	26464679	26478604	Ref too long to show for this DEL	G	MYO3A	c.4294-947_4439-3530del	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26464683_26478604del	VUS	1 lab	13b7580782
19:3641744 PIP5K1C C>T	19	3641744	3641744	C	T	PIP5K1C	c.1746G>A	NM_012398.3	NP_036530.1:p.(Ala582=)	NC_000019.9:g.3641744C>T	(Likely) benign	1 lab	13b83b0512
3:129249873 RHO C>T	3	129249873	129249873	C	T	RHO	c.516C>T	NM_000539.3	NP_000530.1:p.(Leu172=)	NC_000003.11:g.129249873C>T	(Likely) benign	1 lab	13bea9f517
6:16145195 MYLIP C>T	6	16145195	16145195	C	T	MYLIP	c.895C>T	NM_013262.4	NP_037394.2:p.(Leu299=)	NC_000006.11:g.16145195C>T	(Likely) benign	1 lab	13c055d918
10:73447494 CDH23 G>A	10	73447494	73447494	G	A	CDH23	c.2059+18G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73447494G>A	(Likely) benign	1 lab	13c27e44ea
16:9892275 GRIN2A C>G	16	9892275	9892275	C	G	GRIN2A	c.2215G>C	NM_000833.5	NP_000824.1:p.(Ala739Pro)	NC_000016.9:g.9892275C>G	(Likely) pathogenic	1 lab	13c29445c9
5:176942792 DDX41 C>T	5	176942792	176942792	C	T	DDX41	c.465G>A	NM_016222.4	NP_057306.2:p.(Met155Ile)	NC_000005.9:g.176942792C>T	VUS	1 lab	13c360a7e6
2:179583287 TTN A>T	2	179583287	179583287	A	T	TTN	c.24546T>A	NM_001267550.2	NP_001254479.2:p.(Val8182=)	NC_000002.11:g.179583287A>T	(Likely) benign	1 lab	13c41d2e0b
11:119210479 C1QTNF5 G>A	11	119210479	119210479	G	A	C1QTNF5	c.294C>T	NM_015645.5	NP_056460.1:p.(Cys98=)	NC_000011.9:g.119210479G>A	(Likely) benign	1 lab	13c4b2a7b5
16:21474859 MISSING Ref too long to show for this DEL>T	16	21474859	21839495	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.21474860_21839495del	VUS	1 lab	13c4f4b87c
2:179650437 TTN T>C	2	179650437	179650437	T	C	TTN	c.2403A>G	NM_001267550.2	NP_001254479.2:p.(Arg801=)	NC_000002.11:g.179650437T>C	(Likely) pathogenic	1 lab	13c6611383
X:53432858 SMC1A T>G	X	53432858	53432858	T	G	SMC1A	c.1576A>C	NM_006306.4	NP_006297.2:p.(Thr526Pro)	NC_000023.10:g.53432858T>G	(Likely) pathogenic	1 lab	13c67abb14
9:27180228 TEK C>T	9	27180228	27180228	C	T	TEK	c.902-10C>T	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27180228C>T	(Likely) benign	1 lab	13c73dc80b
16:1004930 LMF1 G>A	16	1004930	1004930	G	A	LMF1	c.-361-264C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004930G>A	(Likely) benign	1 lab	13c8c0dce3
19:16593504 CALR3 C>T	19	16593504	16593504	C	T	CALR3	c.771G>A	NM_145046.5	NP_659483.2:p.(Gln257=)	NC_000019.9:g.16593504C>T	(Likely) benign	1 lab	13c902092c
4:47938537 CNGA1 T>C	4	47938537	47938537	T	C	CNGA1	c.1962A>G	NM_001142564.2	NP_001136036.2:p.(Arg654=)	NC_000004.11:g.47938537T>C	VUS	1 lab	13cc43dc72
15:34544351 SLC12A6 C>A	15	34544351	34544351	C	A	SLC12A6	c.1306+20G>T	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34544351C>A	(Likely) benign	1 lab	13cdc36f00
11:116706507 APOA1 G>A	11	116706507	116706507	G	A	APOA1	c.*17C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116706507G>A	(Likely) benign	1 lab	13ce572b56
2:44101047 ABCG8 T>G	2	44101047	44101047	T	G	ABCG8	c.1333T>G	NM_022437.3	NP_071882.1:p.(Phe445Val)	NC_000002.11:g.44101047T>G	(Likely) benign	1 lab	13d15859b7
1:161276617 MPZ C>T	1	161276617	161276617	C	T	MPZ	c.329G>A	NM_000530.8	NP_000521.2:p.(Gly110Asp)	NC_000001.10:g.161276617C>T	(Likely) pathogenic	1 lab	13d23a25af
20:32031414 SNTA1 T>G	20	32031414	32031414	T	G	SNTA1	c.13A>C	NM_003098.3	NP_003089.1:p.(Arg5=)	NC_000020.10:g.32031414T>G	(Likely) benign	1 lab	13db16f7c3
6:123673673 TRDN T>C	6	123673673	123673673	T	C	TRDN	c.1383A>G	NM_001251987.2	NP_001238916.1:p.(Lys461=)	NC_000006.11:g.123673673T>C	(Likely) benign	1 lab	13dde71bf5
6:16145314 MYLIP C>T	6	16145314	16145314	C	T	MYLIP	c.1014C>T	NM_013262.4	NP_037394.2:p.(Leu338=)	NC_000006.11:g.16145314C>T	(Likely) benign	1 lab	13f661e40d
17:44249202 KANSL1 CTGAAGACCCCT>C	17	44249202	44249215	CTGAAGACCCCT	C	KANSL1	c.297_307del	NM_001193466.2	NP_001180395.1:p.(Gly100GlnfsTer6)	NC_000017.10:g.44249205_44249215del	(Likely) pathogenic	1 lab	13ded66daf
1:27106235 ARID1A A>G	1	27106235	27106235	A	G	ARID1A	c.5846A>G	NM_006015.6	NP_006006.3:p.(His1949Arg)	NC_000001.10:g.27106235A>G	VUS	1 lab	13e0a0c152
6:39881120 MOCS1 G>A	6	39881120	39881120	G	A	MOCS1	c.698C>T	NM_005943.6	NP_005934.2:p.(Ala233Val)	NC_000006.11:g.39881120G>A	(Likely) benign	1 lab	13e38fcf55
16:83955276 MISSING C>Alt too long to show for this DUP	16	83955276	84697809	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.83955277_84697809dup	VUS	1 lab	13e54d9dae
8:75319187 MISSING C>Alt too long to show for this DUP	8	75319187	75505762	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.75319190_75505762dup	VUS	1 lab	13e6b5741b
1:12010042 PLOD1 C>T	1	12010042	12010042	C	T	PLOD1	c.302+79C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12010042C>T	(Likely) benign	1 lab	13e6b7d816
11:65310901 LTBP3 C>T	11	65310901	65310901	C	T	LTBP3	c.2473G>A	NM_001130144.3	NP_001123616.1:p.(Glu825Lys)	NC_000011.9:g.65310901C>T	VUS	1 lab	13ecc30a9e
22:41077613 MCHR1 G>A	22	41077613	41077613	G	A	MCHR1	c.743G>A	NM_005297.4	NP_005288.4:p.(Arg248Gln)	NC_000022.10:g.41077613G>A	VUS	1 lab	13f1be55f1
6:116757636 DSE A>G	6	116757636	116757636	A	G	DSE	c.2005A>G	NM_013352.4	NP_037484.1:p.(Ile669Val)	NC_000006.11:g.116757636A>G	(Likely) benign	1 lab	13f4d22be5
7:72700413 MISSING Ref too long to show for this DEL>C	7	72700413	73295663	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72700414_73295663del	(Likely) pathogenic	1 lab	13f65b444e
20:30898573 KIF3B G>A	20	30898573	30898573	G	A	KIF3B	c.993G>A	NM_004798.4	NP_004789.1:p.(Leu331=)	NC_000020.10:g.30898573G>A	(Likely) benign	1 lab	13f6b1d5ba
1:12907513 HNRNPCL1 T>C	1	12907513	12907513	T	C	HNRNPCL1	c.630A>G	NM_001013631.3	NP_001013653.1:p.(Lys210=)	NC_000001.10:g.12907513T>C	(Likely) benign	1 lab	13f75c12f6
5:127782458 FBN2 T>C	5	127782458	127782458	T	C	FBN2	c.827-159A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782458T>C	(Likely) benign	1 lab	13f8da94eb
2:74618993 DCTN1 C>G	2	74618993	74618993	C	G	DCTN1	n.1G>C	NR_033935.2		NC_000002.11:g.74618993C>G	(Likely) benign	1 lab	13f92908ef
2:179655425 TTN A>G	2	179655425	179655425	A	G	TTN	c.1800+10T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179655425A>G	(Likely) benign	1 lab	13fb8c502a
11:2610036 KCNQ1 G>A	11	2610036	2610036	G	A	KCNQ1	c.1345G>A	NM_000218.3	NP_000209.2:p.(Glu449Lys)	NC_000011.9:g.2610036G>A	VUS	1 lab	13fc4e4013
8:145584693 MISSING C>Alt too long to show for this DUP	8	145584693	145809438	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145584694_145809438dup	VUS	1 lab	13fddd06f4
8:42823368 HOOK3 C>T	8	42823368	42823368	C	T	HOOK3	c.1122+11C>T	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42823368C>T	(Likely) benign	1 lab	13fe64ac8e
18:47091807 LIPG C>T	18	47091807	47091807	C	T	LIPG	c.218C>T	NM_006033.4	NP_006024.1:p.(Pro73Leu)	NC_000018.9:g.47091807C>T	VUS	1 lab	14013a4b52
8:144990645 PLEC G>A	8	144990645	144990645	G	A	PLEC	c.13755C>T	NM_201380.4	NP_958782.1:p.(Asp4585=)	NC_000008.10:g.144990645G>A	(Likely) benign	1 lab	14022c4dd9
16:2160529 PKD1 G>A	16	2160529	2160529	G	A	PKD1	c.4639C>T	NM_001009944.3	NP_001009944.3:p.(Arg1547Cys)	NC_000016.9:g.2160529G>A	VUS	1 lab	1404be9bad
5:133944174 SAR1B G>T	5	133944174	133944174	G	T	SAR1B	c.368C>A	NM_001033503.3	NP_001028675.1:p.(Thr123Asn)	NC_000005.9:g.133944174G>T	VUS	1 lab	1407964c0c
15:58852669 LIPC T>C	15	58852669	58852669	T	C	LIPC	c.1052-394T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852669T>C	(Likely) benign	1 lab	1408ad54b0
18:58039356 MC4R T>C	18	58039356	58039356	T	C	MC4R	c.227A>G	NM_005912.3	NP_005903.2:p.(His76Arg)	NC_000018.9:g.58039356T>C	VUS	1 lab	140a753747
16:71627137 MISSING G>Alt too long to show for this DUP	16	71627137	71736273	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71627143_71736273dup	VUS	1 lab	140b9ba5aa
19:11231111 LDLR C>A	19	11231111	11231111	C	A	LDLR	c.2053C>A	NM_000527.5	NP_000518.1:p.(Pro685Thr)	NC_000019.9:g.11231111C>A	(Likely) pathogenic	1 lab	140cd34ca0
18:25589675 CDH2 T>A	18	25589675	25589675	T	A	CDH2	c.702+6A>T	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25589675T>A	(Likely) benign	1 lab	140d49c9a1
1:94544235 ABCA4 G>A	1	94544235	94544235	G	A	ABCA4	c.1267C>T	NM_000350.3	NP_000341.2:p.(His423Tyr)	NC_000001.10:g.94544235G>A	VUS	1 lab	140e051703
15:72041081 THSD4 C>T	15	72041081	72041081	C	T	THSD4	c.1335+148C>T	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72041081C>T	(Likely) benign	1 lab	140f4d0943
16:30750343 SRCAP C>G	16	30750343	30750343	C	G	SRCAP	c.8982C>G	NM_006662.3	NP_006653.2:p.(Thr2994=)	NC_000016.9:g.30750343C>G	(Likely) benign	1 lab	140f81d40f
X:47062534 UBA1 G>A	X	47062534	47062534	G	A	UBA1	c.1340G>A	NM_003334.4	NP_003325.2:p.(Arg447His)	NC_000023.10:g.47062534G>A	(Likely) benign	1 lab	1414148367
1:156108437 LMNA T>C	1	156108437	156108437	T	C	LMNA	c.1857T>C	NM_170707.4	NP_733821.1:p.(Ser619=)	NC_000001.10:g.156108437T>C	(Likely) benign	1 lab	141434038d
15:93540529 CHD2 TG>T	15	93540529	93540535	TG	T	CHD2	c.3787del	NM_001271.4	NP_001262.3:p.(Val1263TrpfsTer21)	NC_000015.9:g.93540535del	(Likely) pathogenic	1 lab	14150a7774
19:2249596 AMH AG>A	19	2249596	2249599	AG	A	AMH	c.268del	NM_000479.5	NP_000470.3:p.(Ala90ProfsTer49)	NC_000019.9:g.2249599del	(Likely) pathogenic	1 lab	1415e83866
1:27102164 ARID1A A>G	1	27102164	27102164	A	G	ARID1A	c.5090A>G	NM_006015.6	NP_006006.3:p.(Asp1697Gly)	NC_000001.10:g.27102164A>G	VUS	1 lab	1417d086af
19:50792847 MYH14 G>A	19	50792847	50792847	G	A	MYH14	c.4907G>A	NM_001145809.2	NP_001139281.1:p.(Arg1636His)	NC_000019.9:g.50792847G>A	VUS	1 lab	1419959018
10:102771699 PDZD7 G>C	10	102771699	102771699	G	C	PDZD7	c.1916C>G	NM_001195263.2	NP_001182192.1:p.(Ala639Gly)	NC_000010.10:g.102771699G>C	(Likely) benign	1 lab	141befb19b
15:58853066 LIPC A>C	15	58853066	58853066	A	C	LIPC	c.1055A>C	NM_000236.3	NP_000227.2:p.(Tyr352Ser)	NC_000015.9:g.58853066A>C	VUS	1 lab	141ecc4a88
19:11227586 LDLR CA>C	19	11227586	11227588	CA	C	LDLR	c.1759del	NM_000527.5	NP_000518.1:p.(Ser587AlafsTer78)	NC_000019.9:g.11227588del	(Likely) pathogenic	1 lab	141ed0a09b
2:212652803 ERBB4 C>T	2	212652803	212652803	C	T	ERBB4	c.503G>A	NM_005235.3	NP_005226.1:p.(Arg168Gln)	NC_000002.11:g.212652803C>T	(Likely) benign	1 lab	141efd42e3
2:44053602 ABCG5 A>G	2	44053602	44053602	A	G	ABCG5	c.693T>C	NM_022436.3	NP_071881.1:p.(Ile231=)	NC_000002.11:g.44053602A>G	(Likely) benign	1 lab	1420d466f6
8:19818439 LPL C>A	8	19818439	19818439	C	A	LPL	c.1167C>A	NM_000237.3	NP_000228.1:p.(Tyr389Ter)	NC_000008.10:g.19818439C>A	(Likely) pathogenic	1 lab	1422eba6d1
12:110252436 TRPV4 G>A	12	110252436	110252436	G	A	TRPV4	c.166C>T	NM_021625.5	NP_067638.3:p.(Arg56Cys)	NC_000012.11:g.110252436G>A	VUS	1 lab	14238d6ac1
8:19816238 LPL A>C	8	19816238	19816238	A	C	LPL	c.1019-533A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816238A>C	(Likely) benign	1 lab	142608eaa7
1:55524339 PCSK9 C>CGTGTGTGTGT	1	55524339	55524391	C	CGTGTGTGTGT	PCSK9	c.1503+62_1503+71dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524382_55524391dup	(Likely) benign	1 lab	1426791142
16:67974113 LCAT G>A	16	67974113	67974113	G	A	LCAT	c.1017C>T	NM_000229.2	NP_000220.1:p.(Tyr339=)	NC_000016.9:g.67974113G>A	VUS	1 lab	1427d1103c
3:38646065 SCN5A C>T	3	38646065	38646065	C	T	SCN5A	c.1518+155G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38646065C>T	(Likely) benign	1 lab	1427eda98f
19:11215907 LDLR T>C	19	11215907	11215907	T	C	LDLR	c.325T>C	NM_000527.5	NP_000518.1:p.(Cys109Arg)	NC_000019.9:g.11215907T>C	(Likely) pathogenic	1 lab	14286aaa7b
3:20096894 KAT2B Ref too long to show for this DEL>T	3	20096894	20177200	Ref too long to show for this DEL	T	KAT2B	c.303+14624_1750-1234del	NM_003884.5	NP_003875.3:p.?	NC_000003.11:g.20096896_20177200del	VUS	1 lab	14290fa06b
9:139328547 INPP5E C>T	9	139328547	139328547	C	T	INPP5E	c.976G>A	NM_019892.6	NP_063945.2:p.(Glu326Lys)	NC_000009.11:g.139328547C>T	VUS	1 lab	142ad27f6b
12:32996195 PKP2 G>A	12	32996195	32996195	G	A	PKP2	c.1431C>T	NM_004572.4	NP_004563.2:p.(His477=)	NC_000012.11:g.32996195G>A	(Likely) benign	1 lab	142c1a83dd
10:88439888 LDB3 C>T	10	88439888	88439888	C	T	LDB3	c.295C>T	NM_001171610.2	NP_001165081.1:p.(Pro99Ser)	NC_000010.10:g.88439888C>T	VUS	1 lab	142f13617d
20:49510708 ADNP CCTAA>C	20	49510708	49510715	CCTAA	C	ADNP	c.539_542del	NM_001282531.3	NP_001269460.1:p.(Val180GlyfsTer17)	NC_000020.10:g.49510712_49510715del	(Likely) pathogenic	1 lab	142ff43131
2:21230270 APOB C>T	2	21230270	21230270	C	T	APOB	c.9470G>A	NM_000384.3	NP_000375.3:p.(Gly3157Asp)	NC_000002.11:g.21230270C>T	VUS	1 lab	14301a76ee
17:43954331 MISSING Ref too long to show for this DEL>T	17	43954331	44289261	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.43954332_44289261del	(Likely) pathogenic	1 lab	1430cb4731
17:8135146 CTC1 A>C	17	8135146	8135146	A	C	CTC1	c.2386-13T>G	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8135146A>C	(Likely) benign	1 lab	1435315386
9:107560784 ABCA1 C>T	9	107560784	107560784	C	T	ABCA1	c.5039G>A	NM_005502.4	NP_005493.2:p.(Arg1680Gln)	NC_000009.11:g.107560784C>T	VUS	1 lab	143542256a
19:42486179 ATP1A3 C>A	19	42486179	42486179	C	A	ATP1A3	c.1112G>T	NM_001256214.2	NP_001243143.1:p.(Gly371Val)	NC_000019.9:g.42486179C>A	(Likely) pathogenic	1 lab	1435caa77e
12:125299668 SCARB1 G>A	12	125299668	125299668	G	A	SCARB1	c.285-8C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299668G>A	(Likely) benign	1 lab	1436e54673
X:70443929 GJB1 G>C	X	70443929	70443929	G	C	GJB1	c.372G>C	NM_000166.6	NP_000157.1:p.(Lys124Asn)	NC_000023.10:g.70443929G>C	(Likely) pathogenic	1 lab	143ac5c2d8
9:140708943 EHMT1 C>T	9	140708943	140708943	C	T	EHMT1	c.3241C>T	NM_024757.5	NP_079033.4:p.(Arg1081Cys)	NC_000009.11:g.140708943C>T	VUS	1 lab	143b5a2a9d
9:17656957 SH3GL2 Ref too long to show for this DEL>A	9	17656957	17709124	Ref too long to show for this DEL	A	SH3GL2	c.45+77673_46-37940del	NM_003026.5	NP_003017.1:p.?	NC_000009.11:g.17656958_17709124del	VUS	1 lab	14410a4b2f
15:45427756 DUOX1 A>G	15	45427756	45427756	A	G	DUOX1	c.580A>G	NM_017434.5	NP_059130.2:p.(Arg194Gly)	NC_000015.9:g.45427756A>G	(Likely) benign	1 lab	1441b090f3
18:47116543 LIPG TTGTGTG>T	18	47116543	47116578	TTGTGTG	T	LIPG	c.1482-298_1482-293del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116573_47116578del	(Likely) benign	1 lab	1441e91654
19:45412004 APOE C>A	19	45412004	45412004	C	A	APOE	c.529C>A	NM_001302688.2	NP_001289617.1:p.(Leu177Met)	NC_000019.9:g.45412004C>A	VUS	1 lab	14428ce576
14:105170241 INF2 G>A	14	105170241	105170241	G	A	INF2	c.668-12G>A	NM_001031714.4	NP_001026884.3:p.?	NC_000014.8:g.105170241G>A	(Likely) benign	1 lab	14433a0811
19:51381987 MISSING G>Alt too long to show for this DUP	19	51381987	51518096	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.51381988_51518096dup	VUS	1 lab	14467cc649
4:190876192 FRG1 A>C	4	190876192	190876192	A	C	FRG1	c.318A>C	NM_004477.3	NP_004468.1:p.(Arg106Ser)	NC_000004.11:g.190876192A>C	(Likely) benign	1 lab	1446d6a9bc
20:54823910 MC3R C>T	20	54823910	54823910	C	T	MC3R	c.11C>T	NM_019888.3	NP_063941.3:p.(Ser4Leu)	NC_000020.10:g.54823910C>T	VUS	1 lab	14476195f3
10:121436589 BAG3 A>G	10	121436589	121436589	A	G	BAG3	c.1523A>G	NM_004281.4	NP_004272.2:p.(Tyr508Cys)	NC_000010.10:g.121436589A>G	VUS	1 lab	144883d977
12:100880334 MISSING C>Alt too long to show for this DUP	12	100880334	101045578	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.100880335_101045578dup	VUS	1 lab	144f3947fe
9:135205819 SETX A>G	9	135205819	135205819	A	G	SETX	c.1166T>C	NM_015046.7	NP_055861.3:p.(Leu389Ser)	NC_000009.11:g.135205819A>G	(Likely) pathogenic	1 lab	144f687e94
5:127671257 FBN2 C>T	5	127671257	127671257	C	T	FBN2	c.3737G>A	NM_001999.4	NP_001990.2:p.(Cys1246Tyr)	NC_000005.9:g.127671257C>T	(Likely) pathogenic	1 lab	14515d0c92
19:40909695 PRX T>G	19	40909695	40909695	T	G	PRX	c.102A>C	NM_020956.2	NP_066007.1:p.(Val34=)	NC_000019.9:g.40909695T>G	(Likely) benign	1 lab	1453ff463d
12:125270960 SCARB1 G>A	12	125270960	125270960	G	A	SCARB1	c.1344C>T	NM_001367981.1	NP_001354910.1:p.(Leu448=)	NC_000012.11:g.125270960G>A	(Likely) benign	1 lab	1458dc598d
16:57016081 CETP G>C	16	57016081	57016081	G	C	CETP	c.1253G>C	NM_000078.3	NP_000069.2:p.(Ser418Thr)	NC_000016.9:g.57016081G>C	(Likely) benign	1 lab	145ae94290
12:32996067 PKP2 C>T	12	32996067	32996067	C	T	PKP2	c.1510+49G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32996067C>T	(Likely) benign	1 lab	146023f7f3
10:16547169 PTER G>A	10	16547169	16547169	G	A	PTER	c.839+10G>A	NM_001001484.3	NP_001001484.1:p.?	NC_000010.10:g.16547169G>A	(Likely) benign	1 lab	1460c0bf10
6:88367738 ORC3 T>G	6	88367738	88367738	T	G	ORC3	c.1694+2T>G	NM_181837.3	NP_862820.1:p.?	NC_000006.11:g.88367738T>G	(Likely) pathogenic	1 lab	1461a971e2
2:187685802 MISSING A>Alt too long to show for this DUP	2	187685802	187712450	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.187685805_187712450dup	VUS	1 lab	14627bd4c9
15:80452241 FAH G>C	15	80452241	80452241	G	C	FAH	c.314+22G>C	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452241G>C	(Likely) benign	1 lab	1464b766c3
2:73679746 ALMS1 T>C	2	73679746	73679746	T	C	ALMS1	c.6095T>C	NM_015120.4	NP_055935.4:p.(Ile2032Thr)	NC_000002.11:g.73679746T>C	VUS	1 lab	14665f4007
17:53270819 MISSING T>Alt too long to show for this DUP	17	53270819	53366295	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.53270820_53366295dup	VUS	1 lab	146ce12882
19:50101146 PRR12 C>T	19	50101146	50101146	C	T	PRR12	c.3554C>T	NM_020719.3	NP_065770.1:p.(Ala1185Val)	NC_000019.9:g.50101146C>T	(Likely) benign	1 lab	146da718a0
2:179470456 TTN A>T	2	179470456	179470456	A	T	TTN	c.53582-16T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179470456A>T	(Likely) benign	1 lab	1472ed033b
2:1459895 TPO C>T	2	1459895	1459895	C	T	TPO	c.660C>T	NM_000547.6	NP_000538.3:p.(Val220=)	NC_000002.11:g.1459895C>T	(Likely) benign	1 lab	1473826132
X:20150343 EIF1AX G>A	X	20150343	20150343	G	A	EIF1AX	c.294C>T	NM_001412.4	NP_001403.1:p.(Asp98=)	NC_000023.10:g.20150343G>A	(Likely) benign	1 lab	1474c44a0e
X:75763301 MISSING A>Alt too long to show for this DUP	X	75763301	76052009	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.75763305_76052009dup	VUS	1 lab	14751c6243
5:74026093 GFM2 C>T	5	74026093	74026093	C	T	GFM2	c.1718G>A	NM_032380.5	NP_115756.2:p.(Arg573His)	NC_000005.9:g.74026093C>T	(Likely) benign	1 lab	1477296120
19:11231212 LDLR C>T	19	11231212	11231212	C	T	LDLR	c.2140+14C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231212C>T	(Likely) benign	1 lab	1479226bb5
10:100193853 HPS1 G>T	10	100193853	100193853	G	T	HPS1	c.-617-5C>A	NM_001322487.2	NP_001309416.1:p.?	NC_000010.10:g.100193853G>T	VUS	1 lab	147cc4c591
17:59924471 BRIP1 C>T	17	59924471	59924471	C	T	BRIP1	c.618G>A	NM_032043.3	NP_114432.2:p.(Ser206=)	NC_000017.10:g.59924471C>T	(Likely) benign	1 lab	1482e5fd4d
5:90445832 ADGRV1 T>C	5	90445832	90445832	T	C	ADGRV1	c.18433-15T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445832T>C	(Likely) benign	1 lab	1486e9e690
18:47095881 LIPG A>G	18	47095881	47095881	A	G	LIPG	c.534A>G	NM_006033.4	NP_006024.1:p.(Ala178=)	NC_000018.9:g.47095881A>G	(Likely) benign	1 lab	148e54f098
16:28689085 MISSING Ref too long to show for this DEL>C	16	28689085	29051191	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.28689086_29051191del	(Likely) pathogenic	1 lab	148f9009c2
3:170218996 SLC7A14 G>A	3	170218996	170218996	G	A	SLC7A14	c.443C>T	NM_020949.3	NP_066000.2:p.(Ala148Val)	NC_000003.11:g.170218996G>A	VUS	1 lab	149223a7e6
20:10629747 JAG1 C>T	20	10629747	10629747	C	T	JAG1	c.1357G>A	NM_000214.3	NP_000205.1:p.(Asp453Asn)	NC_000020.10:g.10629747C>T	VUS	1 lab	1493039c0c
3:9783082 BRPF1 G>A	3	9783082	9783082	G	A	BRPF1	c.1813G>A	NM_001003694.2	NP_001003694.1:p.(Val605Met)	NC_000003.11:g.9783082G>A	VUS	1 lab	14952afed3
5:111450862 MISSING Ref too long to show for this DEL>A	5	111450862	111528881	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.111450863_111528881del	VUS	1 lab	1496a27077
17:932622 MISSING C>Alt too long to show for this DUP	17	932622	1271954	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.932623_1271954dup	VUS	1 lab	149709c5d1
X:31715202 DMD Ref too long to show for this DEL>T	X	31715202	31805717	Ref too long to show for this DEL	T	DMD	c.7310-13408_7661-17500del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31715203_31805717del	VUS	1 lab	149956c75b
5:127624961 FBN2 C>G	5	127624961	127624961	C	G	FBN2	c.6512-17G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624961C>G	(Likely) benign	1 lab	1499e79f6e
11:47374188 MYBPC3 G>A	11	47374188	47374188	G	A	MYBPC3	c.11C>T	NM_000256.3	NP_000247.2:p.(Pro4Leu)	NC_000011.9:g.47374188G>A	VUS	1 lab	149a0e6ce2
2:73717481 ALMS1 C>T	2	73717481	73717481	C	T	ALMS1	c.8398C>T	NM_015120.4	NP_055935.4:p.(Pro2800Ser)	NC_000002.11:g.73717481C>T	(Likely) benign	1 lab	149a18e4c0
17:41245504 BRCA1 T>C	17	41245504	41245504	T	C	BRCA1	c.2044A>G	NM_007294.4	NP_009225.1:p.(Asn682Asp)	NC_000017.10:g.41245504T>C	(Likely) benign	1 lab	149a5e8979
5:127637120 FBN2 T>C	5	127637120	127637120	T	C	FBN2	c.6000A>G	NM_001999.4	NP_001990.2:p.(Leu2000=)	NC_000005.9:g.127637120T>C	(Likely) benign	1 lab	149ba598f9
X:41206172 DDX3X T>A	X	41206172	41206172	T	A	DDX3X	c.1676T>A	NM_001356.5	NP_001347.3:p.(Leu559His)	NC_000023.10:g.41206172T>A	(Likely) pathogenic	1 lab	149e811c65
12:102028392 MYBPC1 A>G	12	102028392	102028392	A	G	MYBPC1	c.608+9A>G	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102028392A>G	(Likely) benign	1 lab	14a138777a
X:49087011 CACNA1F C>T	X	49087011	49087011	C	T	CACNA1F	c.582G>A	NM_005183.4	NP_005174.2:p.(Gly194=)	NC_000023.10:g.49087011C>T	(Likely) benign	1 lab	14a1c47174
19:11231057 LDLR T>C	19	11231057	11231057	T	C	LDLR	c.1999T>C	NM_000527.5	NP_000518.1:p.(Cys667Arg)	NC_000019.9:g.11231057T>C	(Likely) pathogenic	1 lab	14a2b15f7a
14:75513639 MLH3 T>A	14	75513639	75513639	T	A	MLH3	c.2720A>T	NM_001040108.2	NP_001035197.1:p.(Lys907Ile)	NC_000014.8:g.75513639T>A	VUS	1 lab	14a3043554
18:25570203 CDH2 C>T	18	25570203	25570203	C	T	CDH2	c.1456G>A	NM_001792.5	NP_001783.2:p.(Val486Ile)	NC_000018.9:g.25570203C>T	VUS	1 lab	14a46f7eac
9:107562095 ABCA1 C>T	9	107562095	107562095	C	T	ABCA1	c.4943+5G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562095C>T	(Likely) pathogenic	1 lab	14a4abd4c1
9:34637665 SIGMAR1 C>A	9	34637665	34637665	C	A	SIGMAR1	c.30G>T	NM_001282208.2	NP_001269137.1:p.(Ala10=)	NC_000009.11:g.34637665C>A	(Likely) benign	1 lab	14a625c59f
9:107579750 ABCA1 C>T	9	107579750	107579750	C	T	ABCA1	c.3463-65G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579750C>T	(Likely) benign	1 lab	14a8aeede2
10:88466309 LDB3 G>A	10	88466309	88466309	G	A	LDB3	c.918G>A	NM_007078.3	NP_009009.1:p.(Pro306=)	NC_000010.10:g.88466309G>A	(Likely) benign	1 lab	14aaec83e6
2:189874717 COL3A1 G>T	2	189874717	189874717	G	T	COL3A1	c.3824-187G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189874717G>T	(Likely) benign	1 lab	14ab5c97c4
17:62892873 LRRC37A3 T>C	17	62892873	62892873	T	C	LRRC37A3	c.503A>G	NM_199340.5	NP_955372.2:p.(His168Arg)	NC_000017.10:g.62892873T>C	(Likely) benign	1 lab	14acd9b002
8:19811777 LPL G>A	8	19811777	19811777	G	A	LPL	c.688G>A	NM_000237.3	NP_000228.1:p.(Val230Ile)	NC_000008.10:g.19811777G>A	VUS	1 lab	14ade12aa5
9:107594975 ABCA1 G>A	9	107594975	107594975	G	A	ABCA1	c.1389C>T	NM_005502.4	NP_005493.2:p.(Ile463=)	NC_000009.11:g.107594975G>A	(Likely) benign	1 lab	14af51471e
9:34635838 SIGMAR1 C>A	9	34635838	34635838	C	A	SIGMAR1	c.463G>T	NM_005866.4	NP_005857.1:p.(Gly155Trp)	NC_000009.11:g.34635838C>A	(Likely) benign	1 lab	14b30ed42c
2:179401171 TTN T>G	2	179401171	179401171	T	G	TTN	c.100303A>C	NM_001267550.2	NP_001254479.2:p.(Lys33435Gln)	NC_000002.11:g.179401171T>G	VUS	1 lab	14b45b9bd7
10:53814173 PRKG1 T>C	10	53814173	53814173	T	C	PRKG1	c.718-71T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53814173T>C	(Likely) benign	1 lab	14b4b1f2ee
7:55249029 EGFR G>A	7	55249029	55249029	G	A	EGFR	c.2327G>A	NM_005228.5	NP_005219.2:p.(Arg776His)	NC_000007.13:g.55249029G>A	VUS	1 lab	14be5baf9c
11:1017530 MUC6 G>A	11	1017530	1017530	G	A	MUC6	c.5271C>T	NM_005961.3	NP_005952.2:p.(His1757=)	NC_000011.9:g.1017530G>A	(Likely) benign	1 lab	14bf48cc9f
7:30062300 FKBP14 G>A	7	30062300	30062300	G	A	FKBP14	c.330C>T	NM_017946.4	NP_060416.1:p.(Gly110=)	NC_000007.13:g.30062300G>A	(Likely) benign	1 lab	14c00984c6
22:18910657 PRODH G>A	22	18910657	18910657	G	A	PRODH	c.703C>T	NM_016335.6	NP_057419.5:p.(Leu235Phe)	NC_000022.10:g.18910657G>A	VUS	1 lab	14c157377d
15:77085281 MISSING C>Alt too long to show for this DUP	15	77085281	77264817	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.77085282_77264817dup	VUS	1 lab	14c1c762fb
21:46827939 MISSING Ref too long to show for this DEL>A	21	46827939	48095856	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.46827940_48095856del	(Likely) pathogenic	1 lab	14c315f8ed
6:123892229 TRDN A>T	6	123892229	123892229	A	T	TRDN	c.71T>A	NM_006073.4	NP_006064.2:p.(Val24Glu)	NC_000006.11:g.123892229A>T	VUS	1 lab	14c5d4ca67
6:16145303 MYLIP G>A	6	16145303	16145303	G	A	MYLIP	c.1003G>A	NM_013262.4	NP_037394.2:p.(Val335Ile)	NC_000006.11:g.16145303G>A	VUS	1 lab	14c72fb350
17:6374628 PITPNM3 G>A	17	6374628	6374628	G	A	PITPNM3	c.1477C>T	NM_031220.4	NP_112497.2:p.(Arg493Trp)	NC_000017.10:g.6374628G>A	(Likely) benign	1 lab	14c7841b50
3:8787331 CAV3 G>A	3	8787331	8787331	G	A	CAV3	c.234G>A	NM_033337.3	NP_203123.1:p.(Thr78=)	NC_000003.11:g.8787331G>A	(Likely) benign	1 lab	14c7dcc804
2:179442393 TTN A>G	2	179442393	179442393	A	G	TTN	c.68760T>C	NM_001267550.2	NP_001254479.2:p.(Asn22920=)	NC_000002.11:g.179442393A>G	(Likely) benign	1 lab	14ca336595
20:10625526 JAG1 G>A	20	10625526	10625526	G	A	JAG1	c.2329C>T	NM_000214.3	NP_000205.1:p.(Pro777Ser)	NC_000020.10:g.10625526G>A	(Likely) benign	1 lab	14cc0fbd7b
4:79075980 FRAS1 Ref too long to show for this DEL>A	4	79075980	79140922	Ref too long to show for this DEL	A	FRAS1	c.109-82683_109-17742del	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79075981_79140922del	VUS	1 lab	14ce0d537b
7:150644914 KCNH2 T>TGCCCCCGCCCGGCCCG	7	150644914	150644935	T	TGCCCCCGCCCGGCCCG	KCNH2	c.2729_2744dup	NM_000238.4	NP_000229.1:p.(Ser918GlyfsTer7)	NC_000007.13:g.150644920_150644935dup	(Likely) pathogenic	1 lab	14ce372a98
X:1583075 P2RY8 C>Alt too long to show for this DUP	X	1583075	1644089	C	Alt too long to show for this DUP	P2RY8	c.-25+11728_*1296dup	NM_178129.5	NP_835230.1:p.?	NC_000023.10:g.1583079_1644089dup	VUS	1 lab	14d5bc04be
16:15872864 MYH11 C>T	16	15872864	15872864	C	T	MYH11	c.748-164G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15872864C>T	(Likely) benign	1 lab	14d85367f3
11:31383037 MISSING Ref too long to show for this DEL>T	11	31383037	31516975	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.31383040_31516975del	VUS	1 lab	14da95c495
11:71941212 INPPL1 A>G	11	71941212	71941212	A	G	INPPL1	c.987A>G	NM_001567.4	NP_001558.3:p.(Ser329=)	NC_000011.9:g.71941212A>G	(Likely) benign	1 lab	14de32e267
20:34090562 CEP250 G>A	20	34090562	34090562	G	A	CEP250	c.4365G>A	NM_007186.6	NP_009117.2:p.(Lys1455=)	NC_000020.10:g.34090562G>A	(Likely) benign	1 lab	14e09dac53
12:125302136 SCARB1 C>T	12	125302136	125302136	C	T	SCARB1	c.244G>A	NM_001367981.1	NP_001354910.1:p.(Glu82Lys)	NC_000012.11:g.125302136C>T	VUS	1 lab	14e0ad5069
9:107552695 ABCA1 G>A	9	107552695	107552695	G	A	ABCA1	c.5927+508C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107552695G>A	(Likely) benign	1 lab	14e366269b
1:248801611 OR2T35 C>T	1	248801611	248801611	C	T	OR2T35	c.949G>A	NM_001001827.2	NP_001001827.1:p.(Ala317Thr)	NC_000001.10:g.248801611C>T	(Likely) benign	1 lab	14e39d0ecc
10:88466331 LDB3 A>G	10	88466331	88466331	A	G	LDB3	c.940A>G	NM_007078.3	NP_009009.1:p.(Thr314Ala)	NC_000010.10:g.88466331A>G	VUS	1 lab	14e3a741c8
10:88451797 LDB3 G>A	10	88451797	88451797	G	A	LDB3	c.1038G>A	NM_001171610.2	NP_001165081.1:p.(Leu346=)	NC_000010.10:g.88451797G>A	(Likely) benign	1 lab	14e42887e8
10:92675930 ANKRD1 T>C	10	92675930	92675930	T	C	ANKRD1	c.649A>G	NM_014391.3	NP_055206.2:p.(Lys217Glu)	NC_000010.10:g.92675930T>C	VUS	1 lab	14e59af7ff
11:71936225 INPPL1 GGCTCCTTGCGGGCTGGCGTGGACCGGGA>G	11	71936225	71936255	GGCTCCTTGCGGGCTGGCGTGGACCGGGA	G	INPPL1	c.182+18_182+45del	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71936228_71936255del	(Likely) benign	1 lab	14eb2df753
11:48002529 PTPRJ CGCT>C	11	48002529	48002549	CGCT	C	PTPRJ	c.83_85del	NM_002843.4	NP_002834.3:p.(Leu28del)	NC_000011.9:g.48002547_48002549del	(Likely) benign	1 lab	14ec5b3151
9:101904712 TGFBR1 A>G	9	101904712	101904712	A	G	TGFBR1	c.806-106A>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101904712A>G	(Likely) benign	1 lab	14eebd6bb9
5:11159720 CTNND2 T>TG	5	11159720	11159721	T	TG	CTNND2	c.2126dup	NM_001332.4	NP_001323.1:p.(Gln710ThrfsTer5)	NC_000005.9:g.11159721dup	VUS	1 lab	14efd0a85a
4:100495711 MTTP C>T	4	100495711	100495711	C	T	MTTP	c.-101-255C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100495711C>T	(Likely) benign	1 lab	14efe493e7
6:44232920 NFKBIE A>G	6	44232920	44232920	A	G	NFKBIE	c.164T>C	NM_004556.3	NP_004547.3:p.(Val55Ala)	NC_000006.11:g.44232920A>G	(Likely) benign	1 lab	14f3b90099
12:21353490 SLCO1B1 T>C	12	21353490	21353490	T	C	SLCO1B1	c.1019T>C	NM_006446.5	NP_006437.3:p.(Met340Thr)	NC_000012.11:g.21353490T>C	(Likely) benign	1 lab	14f4fb5689
2:163128725 IFIH1 A>G	2	163128725	163128725	A	G	IFIH1	c.2616+11T>C	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163128725A>G	(Likely) benign	1 lab	14f6467152
5:38482081 LIFR T>C	5	38482081	38482081	T	C	LIFR	c.2910A>G	NM_001127671.2	NP_001121143.1:p.(Ala970=)	NC_000005.9:g.38482081T>C	(Likely) benign	1 lab	14f75a2a5e
16:15831471 MYH11 A>G	16	15831471	15831471	A	G	MYH11	c.3128T>C	NM_002474.3	NP_002465.1:p.(Leu1043Pro)	NC_000016.9:g.15831471A>G	VUS	1 lab	14f99adc11
12:58220809 CTDSP2 G>C	12	58220809	58220809	G	C	CTDSP2	c.324C>G	NM_005730.4	NP_005721.3:p.(Leu108=)	NC_000012.11:g.58220809G>C	(Likely) benign	1 lab	1501d51847
5:180055862 FLT4 T>G	5	180055862	180055862	T	G	FLT4	c.1103+20A>C	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180055862T>G	(Likely) benign	1 lab	1505dbefb5
15:67473567 SMAD3 C>T	15	67473567	67473567	C	T	SMAD3	c.659-12C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473567C>T	(Likely) benign	1 lab	150e08857e
7:94259030 SGCE C>T	7	94259030	94259030	C	T	SGCE	c.145+1G>A	NM_001346719.2	NP_001333648.1:p.?	NC_000007.13:g.94259030C>T	(Likely) pathogenic	1 lab	150e95df1d
19:1207119 STK11 G>T	19	1207119	1207119	G	T	STK11	c.207G>T	NM_000455.5	NP_000446.1:p.(Ser69=)	NC_000019.9:g.1207119G>T	(Likely) benign	1 lab	150ea41738
6:75843076 COL12A1 G>A	6	75843076	75843076	G	A	COL12A1	c.5727C>T	NM_004370.6	NP_004361.3:p.(Tyr1909=)	NC_000006.11:g.75843076G>A	(Likely) benign	1 lab	1526a19d1b
10:92678740 ANKRD1 AATAAATAAATATATAT>A	10	92678740	92678759	AATAAATAAATATATAT	A	ANKRD1	c.346-27_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678759del	(Likely) benign	1 lab	151283bd90
2:44051386 ABCG5 C>T	2	44051386	44051386	C	T	ABCG5	c.1090G>A	NM_022436.3	NP_071881.1:p.(Val364Ile)	NC_000002.11:g.44051386C>T	(Likely) benign	1 lab	1513141422
3:154802129 MME C>T	3	154802129	154802129	C	T	MME	c.160+13C>T	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154802129C>T	(Likely) benign	1 lab	1513306c58
22:41922473 ACO2 T>C	22	41922473	41922473	T	C	ACO2	c.1953+16T>C	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41922473T>C	(Likely) benign	1 lab	1516d93750
7:151261319 PRKAG2 A>G	7	151261319	151261319	A	G	PRKAG2	c.1438-9T>C	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151261319A>G	(Likely) benign	1 lab	1521e5bfb9
8:134276873 NDRG1 T>C	8	134276873	134276873	T	C	NDRG1	c.122A>G	NM_001135242.2	NP_001128714.1:p.(His41Arg)	NC_000008.10:g.134276873T>C	VUS	1 lab	152375cd7a
16:15484208 MISSING C>Alt too long to show for this DUP	16	15484208	16298956	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15484209_16298956dup	(Likely) pathogenic	1 lab	15257eb148
15:43847769 MISSING Ref too long to show for this DEL>C	15	43847769	44024430	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.43847770_44024430del	(Likely) pathogenic	1 lab	1525ac3654
3:49691969 BSN C>T	3	49691969	49691969	C	T	BSN	c.4980C>T	NM_003458.4	NP_003449.2:p.(Thr1660=)	NC_000003.11:g.49691969C>T	(Likely) benign	1 lab	1527fa65e4
2:179500804 TTN C>T	2	179500804	179500804	C	T	TTN	c.41494G>A	NM_001267550.2	NP_001254479.2:p.(Gly13832Ser)	NC_000002.11:g.179500804C>T	VUS	1 lab	15288ba7d8
3:187152521 MISSING Ref too long to show for this DEL>T	3	187152521	191860731	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.187152522_191860731del	(Likely) pathogenic	1 lab	1529b862b8
6:32552086 HLA-DRB1 T>A	6	32552086	32552086	T	A	HLA-DRB1	c.170A>T	NM_002124.4	NP_002115.2:p.(Asp57Val)	NC_000006.11:g.32552086T>A	(Likely) benign	1 lab	152aab3708
5:90083980 ADGRV1 T>C	5	90083980	90083980	T	C	ADGRV1	c.13746T>C	NM_032119.4	NP_115495.3:p.(Phe4582=)	NC_000005.9:g.90083980T>C	(Likely) benign	1 lab	152b69d563
3:193382716 OPA1 A>G	3	193382716	193382716	A	G	OPA1	c.2709A>G	NM_130837.3	NP_570850.2:p.(Thr903=)	NC_000003.11:g.193382716A>G	(Likely) benign	1 lab	152be6f1c7
4:187115786 CYP4V2 A>T	4	187115786	187115786	A	T	CYP4V2	c.327+20A>T	NM_207352.4	NP_997235.3:p.?	NC_000004.11:g.187115786A>T	(Likely) benign	1 lab	152c4b2d1c
9:72131230 APBA1 G>A	9	72131230	72131230	G	A	APBA1	c.897C>T	NM_001163.4	NP_001154.2:p.(Asp299=)	NC_000009.11:g.72131230G>A	(Likely) benign	1 lab	152d13769d
2:189875577 COL3A1 T>C	2	189875577	189875577	T	C	COL3A1	c.4215T>C	NM_000090.4	NP_000081.2:p.(Asn1405=)	NC_000002.11:g.189875577T>C	(Likely) benign	1 lab	152df257b9
2:179610875 TTN T>C	2	179610875	179610875	T	C	TTN	c.16252A>G	NM_133379.5	NP_596870.2:p.(Met5418Val)	NC_000002.11:g.179610875T>C	VUS	1 lab	152f3e95e4
16:89651958 CPNE7 A>G	16	89651958	89651958	A	G	CPNE7	c.903A>G	NM_014427.5	NP_055242.1:p.(Leu301=)	NC_000016.9:g.89651958A>G	(Likely) benign	1 lab	152fe500b7
1:103356072 COL11A1 C>CA	1	103356072	103356082	C	CA	COL11A1	c.4339-13dup	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103356082dup	(Likely) benign	1 lab	1530a11bfc
16:77393319 ADAMTS18 C>A	16	77393319	77393319	C	A	ADAMTS18	c.1218G>T	NM_199355.4	NP_955387.1:p.(Gly406=)	NC_000016.9:g.77393319C>A	(Likely) benign	1 lab	1530fa368b
11:47370517 MYBPC3 C>T	11	47370517	47370517	C	T	MYBPC3	c.655-425G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370517C>T	(Likely) benign	1 lab	15313112bc
15:22752396 MISSING C>Alt too long to show for this DUP	15	22752396	23211543	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752399_23211543dup	(Likely) pathogenic	1 lab	15346c0b2b
12:133209021 POLE A>T	12	133209021	133209021	A	T	POLE	c.6210T>A	NM_006231.4	NP_006222.2:p.(Ile2070=)	NC_000012.11:g.133209021A>T	(Likely) benign	1 lab	1534a8c44b
6:33411628 SYNGAP1 G>GC	6	33411628	33411632	G	GC	SYNGAP1	c.3303dup	NM_006772.3	NP_006763.2:p.(Ala1102ArgfsTer51)	NC_000006.11:g.33411632dup	(Likely) pathogenic	1 lab	153596a49e
11:1016905 MUC6 A>T	11	1016905	1016905	A	T	MUC6	c.5896T>A	NM_005961.3	NP_005952.2:p.(Phe1966Ile)	NC_000011.9:g.1016905A>T	(Likely) benign	1 lab	1536d061e4
8:61768609 CHD7 C>T	8	61768609	61768609	C	T	CHD7	c.7012C>T	NM_017780.4	NP_060250.2:p.(Gln2338Ter)	NC_000008.10:g.61768609C>T	(Likely) pathogenic	1 lab	15396d7700
20:34090764 CEP250 G>A	20	34090764	34090764	G	A	CEP250	c.4567G>A	NM_007186.6	NP_009117.2:p.(Val1523Ile)	NC_000020.10:g.34090764G>A	VUS	1 lab	153a35aa1a
8:19820086 LPL A>G	8	19820086	19820086	A	G	LPL	c.1427+356A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19820086A>G	(Likely) benign	1 lab	1540215e25
20:42788971 JPH2 G>A	20	42788971	42788971	G	A	JPH2	c.456C>T	NM_020433.5	NP_065166.2:p.(Ala152=)	NC_000020.10:g.42788971G>A	(Likely) benign	1 lab	1540e8f2e8
2:179613883 TTN T>A	2	179613883	179613883	T	A	TTN	c.13244A>T	NM_133379.5	NP_596870.2:p.(Gln4415Leu)	NC_000002.11:g.179613883T>A	(Likely) benign	1 lab	1542214272
2:61684563 MISSING Ref too long to show for this DEL>C	2	61684563	61740364	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.61684565_61740364del	VUS	1 lab	1543319030
18:29125709 DSG2 A>G	18	29125709	29125709	A	G	DSG2	c.2360A>G	NM_001943.5	NP_001934.2:p.(Asp787Gly)	NC_000018.9:g.29125709A>G	VUS	1 lab	1543b4e011
6:72892479 RIMS1 G>C	6	72892479	72892479	G	C	RIMS1	c.1305G>C	NM_014989.6	NP_055804.2:p.(Glu435Asp)	NC_000006.11:g.72892479G>C	(Likely) benign	1 lab	154464515a
18:21496553 LAMA3 C>T	18	21496553	21496553	C	T	LAMA3	c.2990C>T	NM_000227.6	NP_000218.3:p.(Thr997Met)	NC_000018.9:g.21496553C>T	VUS	1 lab	15451ec144
15:41991057 MGA A>T	15	41991057	41991057	A	T	MGA	c.2014-4A>T	NM_001164273.2	NP_001157745.1:p.?	NC_000015.9:g.41991057A>T	(Likely) benign	1 lab	154bf3e4f9
5:37138816 CPLANE1 G>A	5	37138816	37138816	G	A	CPLANE1	c.8630+6C>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37138816G>A	(Likely) benign	1 lab	154d0210dc
8:19810835 LPL C>T	8	19810835	19810835	C	T	LPL	c.444C>T	NM_000237.3	NP_000228.1:p.(Tyr148=)	NC_000008.10:g.19810835C>T	(Likely) benign	1 lab	154dd5d462
9:94794623 SPTLC1 T>C	9	94794623	94794623	T	C	SPTLC1	c.1514A>G	NM_001281303.2	NP_001268232.1:p.(Lys505Arg)	NC_000009.11:g.94794623T>C	(Likely) benign	1 lab	154e3e6c4a
5:140794851 PCDHGA10 G>C	5	140794851	140794851	G	C	PCDHGA10	c.2109G>C	NM_018913.3	NP_061736.1:p.(Ala703=)	NC_000005.9:g.140794851G>C	(Likely) benign	1 lab	154f14d889
10:6686705 MISSING A>Alt too long to show for this DUP	10	6686705	6843109	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.6686707_6843109dup	VUS	1 lab	15503d9c48
18:2728559 SMCHD1 A>G	18	2728559	2728559	A	G	SMCHD1	c.2878A>G	NM_015295.3	NP_056110.2:p.(Ile960Val)	NC_000018.9:g.2728559A>G	(Likely) benign	1 lab	155106cb01
2:179440479 TTN C>T	2	179440479	179440479	C	T	TTN	c.70380G>A	NM_001267550.2	NP_001254479.2:p.(Leu23460=)	NC_000002.11:g.179440479C>T	(Likely) benign	1 lab	1553252634
12:52699033 KRT86 G>A	12	52699033	52699033	G	A	KRT86	c.745G>A	NM_001320198.2	NP_001307127.1:p.(Val249Ile)	NC_000012.11:g.52699033G>A	(Likely) benign	1 lab	15533de76e
4:123663122 BBS12 A>G	4	123663122	123663122	A	G	BBS12	c.75A>G	NM_001178007.2	NP_001171478.1:p.(Thr25=)	NC_000004.11:g.123663122A>G	(Likely) benign	1 lab	155409d324
4:100505137 MTTP A>G	4	100505137	100505137	A	G	MTTP	c.393+463A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100505137A>G	(Likely) benign	1 lab	1555a36780
1:154842199 KCNN3 G>GGCTGCTGCTGCTGCTGCT	1	154842199	154842242	G	GGCTGCTGCTGCTGCTGCT	KCNN3	c.224_241dup	NM_001204087.2	NP_001191016.1:p.(Gln75_Gln80dup)	NC_000001.10:g.154842225_154842242dup	(Likely) benign	1 lab	155776344f
5:92920966 NR2F1 G>C	5	92920966	92920966	G	C	NR2F1	c.237G>C	NM_005654.6	NP_005645.1:p.(Gln79His)	NC_000005.9:g.92920966G>C	(Likely) benign	1 lab	155b26ce00
16:918784 LMF1 G>C	16	918784	918784	G	C	LMF1	c.1130+160C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918784G>C	(Likely) benign	1 lab	1563e19390
9:6726296 MISSING Ref too long to show for this DEL>T	9	6726296	7293444	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.6726297_7293444del	VUS	1 lab	156623a283
1:185987409 HMCN1 A>G	1	185987409	185987409	A	G	HMCN1	c.5395A>G	NM_031935.3	NP_114141.2:p.(Asn1799Asp)	NC_000001.10:g.185987409A>G	(Likely) benign	1 lab	1566668d8e
19:11218361 LDLR G>A	19	11218361	11218361	G	A	LDLR	c.940+171G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218361G>A	(Likely) benign	1 lab	1566f4108c
2:25467489 DNMT3A G>A	2	25467489	25467489	G	A	DNMT3A	c.1587C>T	NM_022552.5	NP_072046.2:p.(Asp529=)	NC_000002.11:g.25467489G>A	(Likely) benign	1 lab	156970447c
14:105167720 INF2 C>T	14	105167720	105167720	C	T	INF2	c.18C>T	NM_022489.4	NP_071934.3:p.(Gly6=)	NC_000014.8:g.105167720C>T	(Likely) benign	1 lab	156e2a89e5
2:16082580 MYCN G>T	2	16082580	16082580	G	T	MYCN	c.394G>T	NM_001293228.2	NP_001280157.1:p.(Glu132Ter)	NC_000002.11:g.16082580G>T	(Likely) pathogenic	1 lab	156e7b52da
12:32949172 PKP2 A>G	12	32949172	32949172	A	G	PKP2	c.2360T>C	NM_004572.4	NP_004563.2:p.(Leu787Pro)	NC_000012.11:g.32949172A>G	VUS	1 lab	156fa95d62
11:17554805 USH1C T>C	11	17554805	17554805	T	C	USH1C	c.101A>G	NM_153676.4	NP_710142.1:p.(His34Arg)	NC_000011.9:g.17554805T>C	(Likely) benign	1 lab	1578e57415
2:219646988 CYP27A1 A>C	2	219646988	219646988	A	C	CYP27A1	c.83A>C	NM_000784.4	NP_000775.1:p.(Lys28Thr)	NC_000002.11:g.219646988A>C	VUS	1 lab	15798dd856
1:11907648 NPPA C>T	1	11907648	11907648	C	T	NPPA	c.94G>A	NM_006172.4	NP_006163.1:p.(Val32Met)	NC_000001.10:g.11907648C>T	(Likely) benign	1 lab	1579ed5648
15:43500531 EPB42 C>T	15	43500531	43500531	C	T	EPB42	c.1062G>A	NM_000119.3	NP_000110.2:p.(Trp354Ter)	NC_000015.9:g.43500531C>T	VUS	1 lab	157a06cd3a
19:11216011 LDLR C>A	19	11216011	11216011	C	A	LDLR	c.429C>A	NM_000527.5	NP_000518.1:p.(Cys143Ter)	NC_000019.9:g.11216011C>A	(Likely) pathogenic	1 lab	157cef438e
12:21358812 SLCO1B1 G>C	12	21358812	21358812	G	C	SLCO1B1	c.1342G>C	NM_006446.5	NP_006437.3:p.(Val448Leu)	NC_000012.11:g.21358812G>C	(Likely) benign	1 lab	157e7b1f72
8:87755782 CNGB3 C>T	8	87755782	87755782	C	T	CNGB3	c.74G>A	NM_019098.5	NP_061971.3:p.(Arg25His)	NC_000008.10:g.87755782C>T	(Likely) benign	1 lab	158188d1ee
1:170508263 GORAB G>A	1	170508263	170508263	G	A	GORAB	c.62-88G>A	NM_152281.3	NP_689494.3:p.?	NC_000001.10:g.170508263G>A	(Likely) benign	1 lab	15834847a1
2:179431847 TTN C>T	2	179431847	179431847	C	T	TTN	c.71308G>A	NM_133378.4	NP_596869.4:p.(Ala23770Thr)	NC_000002.11:g.179431847C>T	VUS	1 lab	1584e15804
3:1143622 MISSING Ref too long to show for this DEL>C	3	1143622	2084253	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.1143623_2084253del	VUS	1 lab	158685d21e
4:42336693 MISSING A>Alt too long to show for this DUP	4	42336693	42414816	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.42336695_42414816dup	VUS	1 lab	158abf7196
19:11212941 LDLR A>C	19	11212941	11212941	A	C	LDLR	c.191-399A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11212941A>C	(Likely) benign	1 lab	158ee4ea1f
16:1003993 LMF1 A>C	16	1003993	1003993	A	C	LMF1	c.503+364T>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003993A>C	(Likely) benign	1 lab	158f2b5c8b
5:77477406 AP3B1 C>T	5	77477406	77477406	C	T	AP3B1	c.720G>A	NM_001271769.2	NP_001258698.1:p.(Lys240=)	NC_000005.9:g.77477406C>T	(Likely) benign	1 lab	158f959f6f
2:179416693 TTN C>A	2	179416693	179416693	C	A	TTN	c.83230G>T	NM_133378.4	NP_596869.4:p.(Val27744Phe)	NC_000002.11:g.179416693C>A	VUS	1 lab	1590258a70
22:29130678 CHEK2 T>G	22	29130678	29130678	T	G	CHEK2	c.32A>C	NM_007194.4	NP_009125.1:p.(Gln11Pro)	NC_000022.10:g.29130678T>G	VUS	1 lab	159065c622
6:7583789 DSP T>C	6	7583789	7583789	T	C	DSP	c.6294T>C	NM_004415.4	NP_004406.2:p.(Asp2098=)	NC_000006.11:g.7583789T>C	(Likely) benign	1 lab	15911032d0
3:50112706 RBM6 C>A	3	50112706	50112706	C	A	RBM6	c.3189C>A	NM_005777.3	NP_005768.1:p.(Gly1063=)	NC_000003.11:g.50112706C>A	(Likely) benign	1 lab	1594004cd3
12:2800187 CACNA1C A>G	12	2800187	2800187	A	G	CACNA1C	c.6488A>G	NM_199460.4	NP_955630.3:p.(Asn2163Ser)	NC_000012.11:g.2800187A>G	VUS	1 lab	159713f8f1
11:108129790 ATM TTGTAAA>T	11	108129790	108129796	TTGTAAA	T	ATM	c.2455_2460del	NM_000051.4	NP_000042.3:p.(Cys819_Lys820del)	NC_000011.9:g.108129791_108129796del	VUS	1 lab	159a8ddf04
12:49691057 PRPH G>A	12	49691057	49691057	G	A	PRPH	c.996+1G>A	NM_006262.4	NP_006253.2:p.?	NC_000012.11:g.49691057G>A	(Likely) benign	1 lab	159c5bb83e
8:19818447 LPL T>C	8	19818447	19818447	T	C	LPL	c.1175T>C	NM_000237.3	NP_000228.1:p.(Leu392Pro)	NC_000008.10:g.19818447T>C	VUS	1 lab	159fc4ea69
17:48267454 COL1A1 G>C	17	48267454	48267454	G	C	COL1A1	c.2467C>G	NM_000088.4	NP_000079.2:p.(Pro823Ala)	NC_000017.10:g.48267454G>C	(Likely) benign	1 lab	15a315b0ed
5:127685590 FBN2 T>C	5	127685590	127685590	T	C	FBN2	c.2863+57A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127685590T>C	(Likely) benign	1 lab	15a7dec074
9:107589255 ABCA1 C>T	9	107589255	107589255	C	T	ABCA1	c.2311G>A	NM_005502.4	NP_005493.2:p.(Val771Met)	NC_000009.11:g.107589255C>T	(Likely) benign	1 lab	15adcc8ff9
8:134251218 NDRG1 C>T	8	134251218	134251218	C	T	NDRG1	c.1088G>A	NM_001135242.2	NP_001128714.1:p.(Arg363His)	NC_000008.10:g.134251218C>T	VUS	1 lab	15addccc7a
1:43220577 P3H1 G>A	1	43220577	43220577	G	A	P3H1	c.1308C>T	NM_022356.4	NP_071751.3:p.(Thr436=)	NC_000001.10:g.43220577G>A	(Likely) benign	1 lab	15ae3aa397
9:137803106 FCN1 G>A	9	137803106	137803106	G	A	FCN1	c.606C>T	NM_002003.5	NP_001994.2:p.(Ser202=)	NC_000009.11:g.137803106G>A	(Likely) benign	1 lab	15af0e01b4
6:11095420 SMIM13 Ref too long to show for this DEL>T	6	11095420	11129432	Ref too long to show for this DEL	T	SMIM13	c.76+799_77-5204del	NM_001135575.2	NP_001129047.1:p.?	NC_000006.11:g.11095421_11129432del	VUS	1 lab	15afd55d57
1:63063428 ANGPTL3 C>T	1	63063428	63063428	C	T	ANGPTL3	c.191C>T	NM_014495.4	NP_055310.1:p.(Thr64Met)	NC_000001.10:g.63063428C>T	(Likely) benign	1 lab	15aff71133
X:6022243 MISSING T>Alt too long to show for this DUP	X	6022243	6198420	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.6022244_6198420dup	VUS	1 lab	15b1d3485d
6:99930691 USP45 G>A	6	99930691	99930691	G	A	USP45	c.783C>T	NM_001346021.3	NP_001332950.1:p.(Ser261=)	NC_000006.11:g.99930691G>A	(Likely) benign	1 lab	15b2b9e796
14:23865523 MYH6 C>T	14	23865523	23865523	C	T	MYH6	c.2399G>A	NM_002471.4	NP_002462.2:p.(Arg800His)	NC_000014.8:g.23865523C>T	VUS	1 lab	15bb0b9bdd
X:70466321 ZMYM3 A>G	X	70466321	70466321	A	G	ZMYM3	c.2418T>C	NM_001171162.1	NP_001164633.1:p.(Pro806=)	NC_000023.10:g.70466321A>G	(Likely) benign	1 lab	15bb8b1b26
2:179511301 TTN G>C	2	179511301	179511301	G	C	TTN	c.40223-15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511301G>C	(Likely) benign	1 lab	15bcd67430
14:105173802 INF2 G>A	14	105173802	105173802	G	A	INF2	c.1198G>A	NM_022489.4	NP_071934.3:p.(Ala400Thr)	NC_000014.8:g.105173802G>A	VUS	1 lab	15bcf6a561
17:79496205 FSCN2 G>A	17	79496205	79496205	G	A	FSCN2	c.648G>A	NM_001077182.3	NP_001070650.1:p.(Ala216=)	NC_000017.10:g.79496205G>A	(Likely) benign	1 lab	15d29f9e4d
15:90057538 MISSING Ref too long to show for this DEL>A	15	90057538	90232895	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.90057540_90232895del	VUS	1 lab	15bdd0fd6e
5:121413465 LOX C>T	5	121413465	121413465	C	T	LOX	c.216G>A	NM_002317.7	NP_002308.2:p.(Pro72=)	NC_000005.9:g.121413465C>T	(Likely) benign	1 lab	15bee7a41f
5:139494067 PURA A>ACT	5	139494067	139494074	A	ACT	PURA	c.307_308dup	NM_005859.5	NP_005850.1:p.(Met104ProfsTer122)	NC_000005.9:g.139494073_139494074dup	(Likely) pathogenic	1 lab	15befee4a4
1:116247808 CASQ2 C>G	1	116247808	116247808	C	G	CASQ2	c.939+5G>C	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116247808C>G	(Likely) pathogenic	1 lab	15bfa3b2e0
2:21233081 APOB A>G	2	21233081	21233081	A	G	APOB	c.6659T>C	NM_000384.3	NP_000375.3:p.(Val2220Ala)	NC_000002.11:g.21233081A>G	VUS	1 lab	15c002ef53
4:190876272 FRG1 G>A	4	190876272	190876272	G	A	FRG1	c.398G>A	NM_004477.3	NP_004468.1:p.(Gly133Glu)	NC_000004.11:g.190876272G>A	(Likely) benign	1 lab	15c0209c07
5:121406412 LOX T>C	5	121406412	121406412	T	C	LOX	c.1036-128A>G	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121406412T>C	VUS	1 lab	15c02cdf3f
10:73767924 CHST3 C>T	10	73767924	73767924	C	T	CHST3	c.1135C>T	NM_004273.5	NP_004264.2:p.(Leu379=)	NC_000010.10:g.73767924C>T	(Likely) benign	1 lab	15c32f76a7
2:44103881 ABCG8 G>T	2	44103881	44103881	G	T	ABCG8	c.1757-819G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44103881G>T	(Likely) benign	1 lab	15cbbb4254
9:140706007 EHMT1 A>T	9	140706007	140706007	A	T	EHMT1	c.2807A>T	NM_024757.5	NP_079033.4:p.(Asn936Ile)	NC_000009.11:g.140706007A>T	VUS	1 lab	15ccc862e4
X:105137864 MISSING G>Alt too long to show for this DUP	X	105137864	105674257	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.105137866_105674257dup	VUS	1 lab	15d087db30
19:11224068 LDLR C>G	19	11224068	11224068	C	G	LDLR	c.1301C>G	NM_000527.5	NP_000518.1:p.(Thr434Arg)	NC_000019.9:g.11224068C>G	(Likely) pathogenic	1 lab	15d0ab93ed
3:38618346 SCN5A CCA>C	3	38618346	38618348	CCA	C	SCN5A	c.3391-76_3391-75del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38618347_38618348del	(Likely) benign	1 lab	15d3c3e99a
1:161275737 MPZ T>TTG	1	161275737	161275738	T	TTG	MPZ	c.675_676insCA	NM_000530.8	NP_000521.2:p.(Ser226GlnfsTer27)	NC_000001.10:g.161275737_161275738insTG	(Likely) pathogenic	1 lab	15d48919de
12:20893109 SLCO1C1 G>T	12	20893109	20893109	G	T	SLCO1C1	c.1549-9G>T	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20893109G>T	(Likely) benign	1 lab	15d6ddf3e8
16:15857670 MYH11 G>T	16	15857670	15857670	G	T	MYH11	c.1133C>A	NM_001040113.2	NP_001035202.1:p.(Ser378Tyr)	NC_000016.9:g.15857670G>T	VUS	1 lab	15d7b07c49
12:5154067 KCNA5 A>C	12	5154067	5154067	A	C	KCNA5	c.754A>C	NM_002234.4	NP_002225.2:p.(Ile252Leu)	NC_000012.11:g.5154067A>C	VUS	1 lab	15d7e35048
9:107548250 ABCA1 T>A	9	107548250	107548250	T	A	ABCA1	c.6401+329A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548250T>A	(Likely) benign	1 lab	15d85860d5
17:48275825 COL1A1 G>T	17	48275825	48275825	G	T	COL1A1	c.512C>A	NM_000088.4	NP_000079.2:p.(Ser171Ter)	NC_000017.10:g.48275825G>T	(Likely) pathogenic	1 lab	15dad18189
11:75907643 WNT11 G>A	11	75907643	75907643	G	A	WNT11	c.203C>T	NM_004626.3	NP_004617.2:p.(Thr68Met)	NC_000011.9:g.75907643G>A	VUS	1 lab	15daf6dcde
14:23873546 MYH6 C>T	14	23873546	23873546	C	T	MYH6	c.694G>A	NM_002471.4	NP_002462.2:p.(Gly232Ser)	NC_000014.8:g.23873546C>T	VUS	1 lab	15dbf73781
12:21370148 SLCO1B1 A>C	12	21370148	21370148	A	C	SLCO1B1	c.1593A>C	NM_006446.5	NP_006437.3:p.(Thr531=)	NC_000012.11:g.21370148A>C	(Likely) benign	1 lab	15dce08a52
1:18686736 MISSING T>Alt too long to show for this DUP	1	18686736	18780574	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.18686737_18780574dup	VUS	1 lab	15e11bebd2
2:44041610 ABCG5 A>G	2	44041610	44041610	A	G	ABCG5	c.1762+6T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44041610A>G	VUS	1 lab	15e1d4867e
9:139418416 NOTCH1 G>A	9	139418416	139418416	G	A	NOTCH1	c.156C>T	NM_017617.5	NP_060087.3:p.(Phe52=)	NC_000009.11:g.139418416G>A	(Likely) benign	1 lab	15e4cce96e
12:122064917 ORAI1 C>T	12	122064917	122064917	C	T	ORAI1	c.264C>T	NM_032790.3	NP_116179.2:p.(Ala88=)	NC_000012.11:g.122064917C>T	(Likely) benign	1 lab	15e686579e
16:15865551 MYH11 C>T	16	15865551	15865551	C	T	MYH11	c.908G>A	NM_002474.3	NP_002465.1:p.(Gly303Asp)	NC_000016.9:g.15865551C>T	VUS	1 lab	15ebec6278
2:21229078 APOB G>A	2	21229078	21229078	G	A	APOB	c.10662C>T	NM_000384.3	NP_000375.3:p.(Ala3554=)	NC_000002.11:g.21229078G>A	(Likely) benign	1 lab	15ec27d302
19:17728502 UNC13A T>C	19	17728502	17728502	T	C	UNC13A	c.4558+9A>G	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17728502T>C	(Likely) benign	1 lab	15f04c6ce2
16:28911937 ATP2A1 G>A	16	28911937	28911937	G	A	ATP2A1	c.1800G>A	NM_004320.6	NP_004311.1:p.(Leu600=)	NC_000016.9:g.28911937G>A	(Likely) benign	1 lab	15f407210c
10:18816565 CACNB2 G>A	10	18816565	18816565	G	A	CACNB2	c.828G>A	NM_000724.4	NP_000715.2:p.(Ser276=)	NC_000010.10:g.18816565G>A	(Likely) benign	1 lab	15f4bb6546
5:127668611 FBN2 C>T	5	127668611	127668611	C	T	FBN2	c.4215G>A	NM_001999.4	NP_001990.2:p.(Lys1405=)	NC_000005.9:g.127668611C>T	(Likely) benign	1 lab	15f4cd08f1
9:134386776 POMT1 C>T	9	134386776	134386776	C	T	POMT1	c.908C>T	NM_001136113.2	NP_001129585.1:p.(Ser303Phe)	NC_000009.11:g.134386776C>T	VUS	1 lab	15f744c98f
10:73439222 CDH23 G>A	10	73439222	73439222	G	A	CDH23	c.1831G>A	NM_022124.6	NP_071407.4:p.(Asp611Asn)	NC_000010.10:g.73439222G>A	VUS	1 lab	15faf750b0
16:16286795 ABCC6 G>A	16	16286795	16286795	G	A	ABCC6	c.997-16C>T	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16286795G>A	(Likely) benign	1 lab	15fbbe5af7
16:57003550 CETP C>T	16	57003550	57003550	C	T	CETP	c.396C>T	NM_000078.3	NP_000069.2:p.(Phe132=)	NC_000016.9:g.57003550C>T	(Likely) benign	1 lab	15fcc28379
9:107562880 ABCA1 A>T	9	107562880	107562880	A	T	ABCA1	c.4699-15T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562880A>T	(Likely) benign	1 lab	1600319a19
5:79950751 MSH3 C>T	5	79950751	79950751	C	T	MSH3	c.205C>T	NM_002439.5	NP_002430.3:p.(Pro69Ser)	NC_000005.9:g.79950751C>T	(Likely) benign	1 lab	160088c36a
20:61568 MISSING Ref too long to show for this DEL>C	20	61568	1560550	Ref too long to show for this DEL	C	MISSING				NC_000020.10:g.61569_1560550del	(Likely) pathogenic	1 lab	16044411d3
14:81610033 TSHR G>A	14	81610033	81610033	G	A	TSHR	c.1631G>A	NM_000369.5	NP_000360.2:p.(Gly544Glu)	NC_000014.8:g.81610033G>A	(Likely) pathogenic	1 lab	16044cdba4
9:100081355 CCDC180 Ref too long to show for this DEL>A	9	100081355	100102065	Ref too long to show for this DEL	A	CCDC180	c.1079+492_2275-3557del	NM_020893.6	NP_065944.3:p.?	NC_000009.11:g.100081356_100102065del	VUS	1 lab	16054ab8b0
17:48263060 COL1A1 G>A	17	48263060	48263060	G	A	COL1A1	c.4249-51C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48263060G>A	(Likely) benign	1 lab	1607514ce5
3:195507077 MUC4 G>A	3	195507077	195507077	G	A	MUC4	c.11374C>T	NM_018406.7	NP_060876.5:p.(Pro3792Ser)	NC_000003.11:g.195507077G>A	(Likely) benign	1 lab	1609f9729f
2:179444319 TTN G>T	2	179444319	179444319	G	T	TTN	c.67605C>A	NM_001267550.2	NP_001254479.2:p.(Ser22535Arg)	NC_000002.11:g.179444319G>T	VUS	1 lab	160b362dab
9:107589283 ABCA1 G>A	9	107589283	107589283	G	A	ABCA1	c.2283C>T	NM_005502.4	NP_005493.2:p.(Tyr761=)	NC_000009.11:g.107589283G>A	(Likely) benign	1 lab	160c5b13f4
14:102455089 DYNC1H1 C>T	14	102455089	102455089	C	T	DYNC1H1	c.2768C>T	NM_001376.5	NP_001367.2:p.(Thr923Met)	NC_000014.8:g.102455089C>T	VUS	1 lab	160fa3746a
2:179430631 TTN T>G	2	179430631	179430631	T	G	TTN	c.80228A>C	NM_001267550.2	NP_001254479.2:p.(Lys26743Thr)	NC_000002.11:g.179430631T>G	VUS	1 lab	1611d938dc
2:44104610 ABCG8 ACT>A	2	44104610	44104614	ACT	A	ABCG8	c.1757-87_1757-86del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104613_44104614del	(Likely) benign	1 lab	1613f873f2
6:56483347 DST G>C	6	56483347	56483347	G	C	DST	c.5485C>G	NM_001723.7	NP_001714.1:p.(Gln1829Glu)	NC_000006.11:g.56483347G>C	(Likely) benign	1 lab	16154db3ef
8:68107597 CSPP1 G>T	8	68107597	68107597	G	T	CSPP1	c.3470-20G>T	NM_001382391.1	NP_001369320.1:p.?	NC_000008.10:g.68107597G>T	(Likely) benign	1 lab	1616cbb98f
15:80866470 ARNT2 T>C	15	80866470	80866470	T	C	ARNT2	c.1317-19T>C	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80866470T>C	(Likely) benign	1 lab	161cb8bbb6
6:32036788 TNXB C>T	6	32036788	32036788	C	T	TNXB	c.5713G>A	NM_019105.8	NP_061978.6:p.(Glu1905Lys)	NC_000006.11:g.32036788C>T	(Likely) benign	1 lab	161dbb0146
5:151043577 SPARC G>T	5	151043577	151043577	G	T	SPARC	c.883+71C>A	NM_003118.4	NP_003109.1:p.?	NC_000005.9:g.151043577G>T	(Likely) benign	1 lab	161f54f01f
7:128481563 FLNC C>T	7	128481563	128481563	C	T	FLNC	c.2063C>T	NM_001458.5	NP_001449.3:p.(Ala688Val)	NC_000007.13:g.128481563C>T	VUS	1 lab	1624b3d2b7
15:22752398 MISSING A>Alt too long to show for this DUP	15	22752398	23213558	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752399_23213558dup	(Likely) pathogenic	1 lab	1624c39d27
1:10403360 KIF1B C>T	1	10403360	10403360	C	T	KIF1B	c.3688+15C>T	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10403360C>T	(Likely) benign	1 lab	162c3048f2
8:19813676 LPL C>A	8	19813676	19813676	C	A	LPL	c.1018+82C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813676C>A	(Likely) benign	1 lab	162f8dfe15
7:130040532 CEP41 G>A	7	130040532	130040532	G	A	CEP41	c.757+16C>T	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130040532G>A	(Likely) benign	1 lab	163824bffe
9:33385808 AQP7 G>T	9	33385808	33385808	G	T	AQP7	c.582C>A	NM_001170.3	NP_001161.1:p.(Asn194Lys)	NC_000009.11:g.33385808G>T	(Likely) benign	1 lab	1638c56840
9:107555536 ABCA1 C>T	9	107555536	107555536	C	T	ABCA1	c.5552G>A	NM_005502.4	NP_005493.2:p.(Arg1851Gln)	NC_000009.11:g.107555536C>T	(Likely) pathogenic	1 lab	163ce2b562
12:125271051 SCARB1 TGAG>T	12	125271051	125271057	TGAG	T	SCARB1	c.1255-5_1255-3del	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125271055_125271057del	(Likely) benign	1 lab	1641fa29ba
17:39976727 FKBP10 G>C	17	39976727	39976727	G	C	FKBP10	c.1256+14G>C	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976727G>C	(Likely) benign	1 lab	16435b45b3
2:96940985 SNRNP200 A>T	2	96940985	96940985	A	T	SNRNP200	c.6267+10T>A	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96940985A>T	(Likely) benign	1 lab	1643ec56f9
10:27687638 PTCHD3 C>T	10	27687638	27687638	C	T	PTCHD3	c.1889G>A	NM_001034842.4	NP_001030014.2:p.(Arg630Gln)	NC_000010.10:g.27687638C>T	(Likely) benign	1 lab	164641cd8a
12:80201094 PPP1R12A G>A	12	80201094	80201094	G	A	PPP1R12A	c.1567C>T	NM_002480.3	NP_002471.1:p.(Arg523Ter)	NC_000012.11:g.80201094G>A	(Likely) pathogenic	1 lab	164697c15d
3:71958613 MISSING Ref too long to show for this DEL>T	3	71958613	72955203	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.71958614_72955203del	VUS	1 lab	16554146e2
2:25464385 DNMT3A T>C	2	25464385	25464385	T	C	DNMT3A	c.2082+46A>G	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25464385T>C	(Likely) benign	1 lab	1655d06cd5
19:49671908 TRPM4 C>T	19	49671908	49671908	C	T	TRPM4	c.711C>T	NM_017636.4	NP_060106.2:p.(Asp237=)	NC_000019.9:g.49671908C>T	(Likely) benign	1 lab	16564b274d
1:63063434 ANGPTL3 G>A	1	63063434	63063434	G	A	ANGPTL3	c.197G>A	NM_014495.4	NP_055310.1:p.(Gly66Asp)	NC_000001.10:g.63063434G>A	VUS	1 lab	165924791f
8:19813560 LPL G>A	8	19813560	19813560	G	A	LPL	c.984G>A	NM_000237.3	NP_000228.1:p.(Met328Ile)	NC_000008.10:g.19813560G>A	(Likely) pathogenic	1 lab	165e55fc2e
1:161276656 MPZ T>A	1	161276656	161276656	T	A	MPZ	c.290A>T	NM_000530.8	NP_000521.2:p.(Glu97Val)	NC_000001.10:g.161276656T>A	(Likely) pathogenic	1 lab	165eda1477
12:65136905 GNS T>C	12	65136905	65136905	T	C	GNS	c.792+16A>G	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65136905T>C	(Likely) benign	1 lab	1663ef42d0
5:175339717 MISSING Ref too long to show for this DEL>C	5	175339717	177428999	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.175339724_177428999del	(Likely) pathogenic	1 lab	166b019caf
X:152686990 ZFP92 G>C	X	152686990	152686990	G	C	ZFP92	c.1155G>C	NM_001136273.2	NP_001129745.1:p.(Ala385=)	NC_000023.10:g.152686990G>C	(Likely) benign	1 lab	166caf842a
2:21242759 APOB G>T	2	21242759	21242759	G	T	APOB	c.2835C>A	NM_000384.3	NP_000375.3:p.(Val945=)	NC_000002.11:g.21242759G>T	(Likely) benign	1 lab	166ce82cb0
X:19377066 PDHA1 GAAGT>G	X	19377066	19377073	GAAGT	G	PDHA1	c.1050_1053del	NM_001173454.2	NP_001166925.1:p.(Ser350ArgfsTer13)	NC_000023.10:g.19377070_19377073del	(Likely) pathogenic	1 lab	166d77d276
5:127705202 FBN2 C>G	5	127705202	127705202	C	G	FBN2	c.2096-175G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127705202C>G	(Likely) benign	1 lab	16704ed53b
2:179480157 TTN A>T	2	179480157	179480157	A	T	TTN	c.48515T>A	NM_001267550.2	NP_001254479.2:p.(Ile16172Asn)	NC_000002.11:g.179480157A>T	VUS	1 lab	1674811faa
X:131233980 FRMD7 C>T	X	131233980	131233980	C	T	FRMD7	c.163-442G>A	NM_194277.3	NP_919253.1:p.?	NC_000023.10:g.131233980C>T	(Likely) benign	1 lab	16774fc527
19:11216125 LDLR G>T	19	11216125	11216125	G	T	LDLR	c.543G>T	NM_000527.5	NP_000518.1:p.(Pro181=)	NC_000019.9:g.11216125G>T	(Likely) benign	1 lab	1679800b38
4:36345359 DTHD1 GA>G	4	36345359	36345360	GA	G	DTHD1	c.2635del	NM_001170700.3	NP_001164171.2:p.(Ser879ValfsTer25)	NC_000004.11:g.36345360del	VUS	1 lab	167d97e481
17:34822464 MISSING Ref too long to show for this DEL>A	17	34822464	36404140	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.34822469_36404140del	(Likely) pathogenic	1 lab	167e14fd08
9:107582675 ABCA1 C>T	9	107582675	107582675	C	T	ABCA1	c.2961-325G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582675C>T	(Likely) benign	1 lab	167f5aaf59
6:64516089 EYS C>T	6	64516089	64516089	C	T	EYS	c.7405G>A	NM_001292009.2	NP_001278938.1:p.(Gly2469Ser)	NC_000006.11:g.64516089C>T	VUS	1 lab	167fdd8628
21:45753013 CFAP410 C>T	21	45753013	45753013	C	T	CFAP410	c.276G>A	NM_001271441.2	NP_001258370.1:p.(Leu92=)	NC_000021.8:g.45753013C>T	(Likely) benign	1 lab	168497e185
9:107565993 ABCA1 A>G	9	107565993	107565993	A	G	ABCA1	c.4560-396T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107565993A>G	(Likely) benign	1 lab	168a0419a0
2:179425790 TTN C>T	2	179425790	179425790	C	T	TTN	c.85069G>A	NM_001267550.2	NP_001254479.2:p.(Val28357Ile)	NC_000002.11:g.179425790C>T	(Likely) benign	1 lab	169530c231
4:114277226 ANK2 A>G	4	114277226	114277226	A	G	ANK2	c.7452A>G	NM_001148.6	NP_001139.3:p.(Pro2484=)	NC_000004.11:g.114277226A>G	(Likely) benign	1 lab	1698429a81
10:51888385 MISSING A>Alt too long to show for this DUP	10	51888385	52153321	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.51888387_52153321dup	VUS	1 lab	169d42dac8
16:57017319 CETP G>A	16	57017319	57017319	G	A	CETP	c.1403G>A	NM_000078.3	NP_000069.2:p.(Arg468Gln)	NC_000016.9:g.57017319G>A	(Likely) benign	1 lab	169eedfa2c
19:11224368 LDLR G>A	19	11224368	11224368	G	A	LDLR	c.1516G>A	NM_000527.5	NP_000518.1:p.(Val506Met)	NC_000019.9:g.11224368G>A	VUS	1 lab	1818edcfe6
19:50169330 BCL2L12 C>T	19	50169330	50169330	C	T	BCL2L12	c.-9+6C>T	NM_138639.2	NP_619580.2:p.?	NC_000019.9:g.50169330C>T	(Likely) benign	1 lab	16a65849a8
22:51160028 SHANK3 CCCAGCCCCCTGGT>C	22	51160028	51160041	CCCAGCCCCCTGGT	C	SHANK3	c.3993_4005del	NM_001372044.2	NP_001358973.1:p.(Gln1332AlafsTer23)	NC_000022.10:g.51160029_51160041del	(Likely) pathogenic	1 lab	16a6e3276c
2:85769890 MAT2A C>T	2	85769890	85769890	C	T	MAT2A	c.951+20C>T	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85769890C>T	(Likely) benign	1 lab	16a99248ba
13:32911091 BRCA2 A>G	13	32911091	32911091	A	G	BRCA2	c.2599A>G	NM_000059.4	NP_000050.3:p.(Thr867Ala)	NC_000013.10:g.32911091A>G	(Likely) benign	1 lab	16aa9c11e1
11:2606444 KCNQ1 G>A	11	2606444	2606444	G	A	KCNQ1	c.1035G>A	NM_000218.3	NP_000209.2:p.(Gly345=)	NC_000011.9:g.2606444G>A	(Likely) benign	1 lab	16ab1cbab4
20:62679873 SOX18 C>T	20	62679873	62679873	C	T	SOX18	c.801G>A	NM_018419.3	NP_060889.1:p.(Ala267=)	NC_000020.10:g.62679873C>T	(Likely) benign	1 lab	16ace82be1
5:149516631 PDGFRB A>G	5	149516631	149516631	A	G	PDGFRB	c.-6-15T>C	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149516631A>G	(Likely) benign	1 lab	16b4d0650b
12:48376366 COL2A1 AG>A	12	48376366	48376372	AG	A	COL2A1	c.2219del	NM_001844.5	NP_001835.3:p.(Pro740LeufsTer48)	NC_000012.11:g.48376372del	(Likely) pathogenic	1 lab	16b4e6065e
11:116661249 APOA5 G>C	11	116661249	116661249	G	C	APOA5	c.696C>G	NM_052968.5	NP_443200.2:p.(Ser232=)	NC_000011.9:g.116661249G>C	(Likely) benign	1 lab	16b5cf1d69
3:38751085 SCN10A C>T	3	38751085	38751085	C	T	SCN10A	c.4165G>A	NM_006514.4	NP_006505.4:p.(Glu1389Lys)	NC_000003.11:g.38751085C>T	VUS	1 lab	16b89b7ef2
16:56544760 BBS2 C>A	16	56544760	56544760	C	A	BBS2	c.534+11G>T	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56544760C>A	(Likely) benign	1 lab	16b8f57f44
2:121742296 GLI2 G>A	2	121742296	121742296	G	A	GLI2	c.1933G>A	NM_005270.5	NP_005261.2:p.(Ala645Thr)	NC_000002.11:g.121742296G>A	VUS	1 lab	16b9c3c0f1
1:156106117 LMNA A>G	1	156106117	156106117	A	G	LMNA	c.1270A>G	NM_170707.4	NP_733821.1:p.(Thr424Ala)	NC_000001.10:g.156106117A>G	VUS	1 lab	16bd6f551e
12:124377896 DNAH10 G>A	12	124377896	124377896	G	A	DNAH10	c.8758G>A	NM_207437.3	NP_997320.2:p.(Val2920Met)	NC_000012.11:g.124377896G>A	(Likely) benign	1 lab	16bfca1a42
6:56434712 DST G>T	6	56434712	56434712	G	T	DST	c.7463C>A	NM_001144769.5	NP_001138241.1:p.(Pro2488His)	NC_000006.11:g.56434712G>T	(Likely) benign	1 lab	16c22ac98d
X:67896036 MISSING C>Alt too long to show for this DUP	X	67896036	68342670	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.67896038_68342670dup	(Likely) pathogenic	1 lab	16c4378acd
20:44099094 WFDC2 T>C	20	44099094	44099094	T	C	WFDC2	c.145T>C	NM_006103.4	NP_006094.3:p.(Cys49Arg)	NC_000020.10:g.44099094T>C	VUS	1 lab	16c69f2496
8:87683335 CNGB3 GA>G	8	87683335	87683343	GA	G	CNGB3	c.339-10del	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87683343del	(Likely) benign	1 lab	16c6e80c49
15:40299200 EIF2AK4 TTTTG>T	15	40299200	40299207	TTTTG	T	EIF2AK4	c.3358-13_3358-10del	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40299204_40299207del	(Likely) benign	1 lab	16c743a4c0
15:85384050 ALPK3 G>C	15	85384050	85384050	G	C	ALPK3	c.1540G>C	NM_020778.5	NP_065829.4:p.(Gly514Arg)	NC_000015.9:g.85384050G>C	VUS	1 lab	16ca08a98c
19:54695254 TSEN34 G>A	19	54695254	54695254	G	A	TSEN34	c.39G>A	NM_001282332.2	NP_001269261.1:p.(Val13=)	NC_000019.9:g.54695254G>A	(Likely) benign	1 lab	16cbdf8f75
2:21230139 APOB T>A	2	21230139	21230139	T	A	APOB	c.9601A>T	NM_000384.3	NP_000375.3:p.(Ile3201Phe)	NC_000002.11:g.21230139T>A	VUS	1 lab	16cc334aff
18:47116543 LIPG T>TTG	18	47116543	47116578	T	TTG	LIPG	c.1482-294_1482-293dup	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116577_47116578dup	(Likely) benign	1 lab	16cfd4e4a6
11:68702876 IGHMBP2 G>C	11	68702876	68702876	G	C	IGHMBP2	c.1742G>C	NM_002180.3	NP_002171.2:p.(Arg581Thr)	NC_000011.9:g.68702876G>C	VUS	1 lab	16d71b2f6c
1:235596427 TBCE C>T	1	235596427	235596427	C	T	TBCE	c.813+14C>T	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235596427C>T	(Likely) benign	1 lab	16d9180cbf
3:32181852 GPD1L A>G	3	32181852	32181852	A	G	GPD1L	c.499A>G	NM_015141.4	NP_055956.1:p.(Thr167Ala)	NC_000003.11:g.32181852A>G	VUS	1 lab	16d94a50e6
2:179593070 TTN A>C	2	179593070	179593070	A	C	TTN	c.19481T>G	NM_001267550.2	NP_001254479.2:p.(Leu6494Arg)	NC_000002.11:g.179593070A>C	VUS	1 lab	16dad037b3
4:16165036 TAPT1 G>A	4	16165036	16165036	G	A	TAPT1	c.1599C>T	NM_153365.3	NP_699196.2:p.(Asp533=)	NC_000004.11:g.16165036G>A	(Likely) benign	1 lab	16dba0efea
11:116662785 APOA5 G>A	11	116662785	116662785	G	A	APOA5	c.-32-177C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662785G>A	(Likely) benign	1 lab	16dcd8bb43
9:107591367 ABCA1 T>A	9	107591367	107591367	T	A	ABCA1	c.1945A>T	NM_005502.4	NP_005493.2:p.(Ile649Phe)	NC_000009.11:g.107591367T>A	VUS	1 lab	16deac9576
16:942712 LMF1 C>T	16	942712	942712	C	T	LMF1	c.330+295G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942712C>T	(Likely) benign	1 lab	16df01cefc
9:107554744 ABCA1 A>G	9	107554744	107554744	A	G	ABCA1	c.5757+323T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554744A>G	(Likely) benign	1 lab	16e0955b09
X:70443840 GJB1 G>A	X	70443840	70443840	G	A	GJB1	c.283G>A	NM_000166.6	NP_000157.1:p.(Val95Met)	NC_000023.10:g.70443840G>A	(Likely) pathogenic	1 lab	16e4ff9aa4
10:47086990 NPY4R G>A	10	47086990	47086990	G	A	NPY4R	c.207G>A	NM_005972.6	NP_005963.4:p.(Gln69=)	NC_000010.10:g.47086990G>A	(Likely) benign	1 lab	16e758d519
15:85370712 ALPK3 T>G	15	85370712	85370712	T	G	ALPK3	c.183-3T>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85370712T>G	VUS	1 lab	16e7d663fd
10:68940258 CTNNA3 T>G	10	68940258	68940258	T	G	CTNNA3	c.864A>C	NM_013266.4	NP_037398.2:p.(Pro288=)	NC_000010.10:g.68940258T>G	(Likely) benign	1 lab	16e7f6726d
12:21353911 SLCO1B1 C>G	12	21353911	21353911	C	G	SLCO1B1	c.1135+305C>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353911C>G	(Likely) benign	1 lab	16ede907b6
8:128429439 POU5F1B T>TAAAA	8	128429439	128429455	T	TAAAA	POU5F1B	c.*261_*264dup	NM_001159542.2	NP_001153014.1:p.?	NC_000008.10:g.128429452_128429455dup	(Likely) benign	1 lab	16f4515bb5
10:90984787 LIPA T>G	10	90984787	90984787	T	G	LIPA	c.675+62A>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90984787T>G	(Likely) benign	1 lab	16fa2479fe
16:949388 LMF1 G>T	16	949388	949388	G	T	LMF1	c.265-6316C>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.949388G>T	(Likely) benign	1 lab	16fb65cf1b
14:76429659 TGFB3 C>T	14	76429659	76429659	C	T	TGFB3	c.926G>A	NM_003239.5	NP_003230.1:p.(Arg309His)	NC_000014.8:g.76429659C>T	(Likely) pathogenic	1 lab	16feabb8b1
7:107338564 SLC26A4 C>T	7	107338564	107338564	C	T	SLC26A4	c.1614+8C>T	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107338564C>T	(Likely) benign	1 lab	16febc47cf
3:71037210 FOXP1 G>A	3	71037210	71037210	G	A	FOXP1	c.1081C>T	NM_001244808.3	NP_001231737.1:p.(Arg361Cys)	NC_000003.11:g.71037210G>A	(Likely) pathogenic	1 lab	16ffb962b6
10:112541143 RBM20 G>T	10	112541143	112541143	G	T	RBM20	c.776G>T	NM_001134363.3	NP_001127835.2:p.(Gly259Val)	NC_000010.10:g.112541143G>T	VUS	1 lab	1700269981
2:189860493 COL3A1 G>A	2	189860493	189860493	G	A	COL3A1	c.1585G>A	NM_000090.4	NP_000081.2:p.(Val529Ile)	NC_000002.11:g.189860493G>A	(Likely) benign	1 lab	1705365ba8
X:17751087 MISSING G>Alt too long to show for this DUP	X	17751087	17759130	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.17751088_17759130dup	VUS	1 lab	1705903cbe
12:6950803 GNB3 C>T	12	6950803	6950803	C	T	GNB3	c.96+15C>T	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6950803C>T	(Likely) benign	1 lab	17071a78dc
6:100057044 PRDM13 T>A	6	100057044	100057044	T	A	PRDM13	c.277-19T>A	NM_021620.4	NP_067633.2:p.?	NC_000006.11:g.100057044T>A	(Likely) benign	1 lab	1994c416a1
7:94041412 COL1A2 C>T	7	94041412	94041412	C	T	COL1A2	c.1383C>T	NM_000089.4	NP_000080.2:p.(Pro461=)	NC_000007.13:g.94041412C>T	(Likely) benign	1 lab	170a59d02a
10:101993043 CWF19L1 TCTC>T	10	101993043	101993049	TCTC	T	CWF19L1	c.1555_1557del	NM_018294.6	NP_060764.3:p.(Glu519del)	NC_000010.10:g.101993047_101993049del	VUS	1 lab	170b840d55
1:196694346 CFH A>C	1	196694346	196694346	A	C	CFH	c.1792A>C	NM_000186.4	NP_000177.2:p.(Lys598Gln)	NC_000001.10:g.196694346A>C	VUS	1 lab	170be58234
5:128374601 MISSING Ref too long to show for this DEL>T	5	128374601	128697595	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.128374604_128697595del	VUS	1 lab	170c94eee7
3:176752052 TBL1XR1 TA>T	3	176752052	176752055	TA	T	TBL1XR1	c.1183del	NM_024665.7	NP_078941.2:p.(Tyr395IlefsTer21)	NC_000003.11:g.176752055del	VUS	1 lab	1712b446ba
18:34297937 FHOD3 T>C	18	34297937	34297937	T	C	FHOD3	c.2151T>C	NM_025135.5	NP_079411.2:p.(Ala717=)	NC_000018.9:g.34297937T>C	(Likely) benign	1 lab	1714c00a63
10:88469559 LDB3 G>A	10	88469559	88469559	G	A	LDB3	c.1086-103G>A	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88469559G>A	VUS	1 lab	1715c26ed2
14:37176927 SLC25A21 Ref too long to show for this DEL>A	14	37176927	37192475	Ref too long to show for this DEL	A	SLC25A21	c.438+2300_603+3595del	NM_030631.4	NP_085134.1:p.?	NC_000014.8:g.37176928_37192475del	VUS	1 lab	17189f948d
1:156849068 NTRK1 C>T	1	156849068	156849068	C	T	NTRK1	c.1960C>T	NM_002529.3	NP_002520.2:p.(Arg654Cys)	NC_000001.10:g.156849068C>T	(Likely) pathogenic	1 lab	171e7e7e0a
19:8189065 MISSING T>Alt too long to show for this DUP	19	8189065	8280586	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.8189066_8280586dup	VUS	1 lab	171fb302b6
17:39915054 JUP C>T	17	39915054	39915054	C	T	JUP	c.1566G>A	NM_001352773.2	NP_001339702.1:p.(Ala522=)	NC_000017.10:g.39915054C>T	(Likely) benign	1 lab	1723bbe935
1:12062071 MFN2 G>C	1	12062071	12062071	G	C	MFN2	c.1071G>C	NM_014874.4	NP_055689.1:p.(Lys357Asn)	NC_000001.10:g.12062071G>C	(Likely) pathogenic	1 lab	1724a3d8c3
12:50501855 GPD1 G>T	12	50501855	50501855	G	T	GPD1	c.895G>T	NM_005276.4	NP_005267.2:p.(Gly299Trp)	NC_000012.11:g.50501855G>T	VUS	1 lab	1724fb9baa
2:179473216 TTN A>G	2	179473216	179473216	A	G	TTN	c.52406-12T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179473216A>G	(Likely) benign	1 lab	1725968ac9
X:11343895 ARHGAP6 Ref too long to show for this DEL>T	X	11343895	11352209	Ref too long to show for this DEL	T	ARHGAP6	c.589-79382_589-71069del	NM_013427.3	NP_038286.2:p.?	NC_000023.10:g.11343896_11352209del	VUS	1 lab	1725a0f3d4
1:3321329 PRDM16 C>T	1	3321329	3321329	C	T	PRDM16	c.911C>T	NM_022114.4	NP_071397.3:p.(Thr304Met)	NC_000001.10:g.3321329C>T	VUS	1 lab	1726a44ec8
12:125298877 SCARB1 G>A	12	125298877	125298877	G	A	SCARB1	c.501C>T	NM_005505.5	NP_005496.4:p.(Gly167=)	NC_000012.11:g.125298877G>A	(Likely) benign	1 lab	1728af6b16
9:137644444 COL5A1 AGGGGACCAGCTGGCCCGAT>A	9	137644444	137644466	AGGGGACCAGCTGGCCCGAT	A	COL5A1	c.1676_1694del	NM_000093.5	NP_000084.3:p.(Gly559ValfsTer17)	NC_000009.11:g.137644448_137644466del	(Likely) pathogenic	1 lab	172aa718fc
7:154679393 DPP6 G>A	7	154679393	154679393	G	A	DPP6	c.2253G>A	NM_130797.4	NP_570629.2:p.(Ala751=)	NC_000007.13:g.154679393G>A	(Likely) benign	1 lab	172c5674ba
8:145737086 RECQL4 C>T	8	145737086	145737086	C	T	RECQL4	c.3480G>A	NM_004260.4	NP_004251.4:p.(Val1160=)	NC_000008.10:g.145737086C>T	(Likely) benign	1 lab	172c7baf9a
9:203860 MISSING Ref too long to show for this DEL>T	9	203860	262037	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.203861_262037del	VUS	1 lab	173080c81d
17:29533415 NF1 C>T	17	29533415	29533415	C	T	NF1	c.1392+26C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29533415C>T	(Likely) benign	1 lab	1737bcaf5e
2:62067223 FAM161A G>A	2	62067223	62067223	G	A	FAM161A	c.916C>T	NM_001201543.2	NP_001188472.1:p.(Arg306Trp)	NC_000002.11:g.62067223G>A	(Likely) benign	1 lab	17383cd1aa
2:27306590 EMILIN1 C>G	2	27306590	27306590	C	G	EMILIN1	c.2151C>G	NM_007046.4	NP_008977.1:p.(Ala717=)	NC_000002.11:g.27306590C>G	(Likely) benign	1 lab	173a2557a3
3:123419654 MYLK G>A	3	123419654	123419654	G	A	MYLK	c.2661C>T	NM_053025.4	NP_444253.3:p.(Ile887=)	NC_000003.11:g.123419654G>A	(Likely) benign	1 lab	173abb7e54
12:125298781 SCARB1 G>C	12	125298781	125298781	G	C	SCARB1	c.597C>G	NM_001367981.1	NP_001354910.1:p.(Phe199Leu)	NC_000012.11:g.125298781G>C	(Likely) benign	1 lab	173b639267
12:64849615 TBK1 C>T	12	64849615	64849615	C	T	TBK1	c.-31-5C>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64849615C>T	(Likely) benign	1 lab	1740cc0ade
2:21250863 APOB C>T	2	21250863	21250863	C	T	APOB	c.1904G>A	NM_000384.3	NP_000375.3:p.(Arg635Gln)	NC_000002.11:g.21250863C>T	(Likely) benign	1 lab	174c19aaae
15:43925135 CATSPER2 T>G	15	43925135	43925135	T	G	CATSPER2	c.1179-3A>C	NM_172095.4	NP_742093.1:p.?	NC_000015.9:g.43925135T>G	(Likely) benign	1 lab	174efb0641
16:71094568 HYDIN C>T	16	71094568	71094568	C	T	HYDIN	c.2377-9G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.71094568C>T	VUS	1 lab	175295eb01
4:22439915 ADGRA3 G>A	4	22439915	22439915	G	A	ADGRA3	c.1049C>T	NM_145290.4	NP_660333.2:p.(Pro350Leu)	NC_000004.11:g.22439915G>A	(Likely) benign	1 lab	1752ace708
17:42429720 GRN C>T	17	42429720	42429720	C	T	GRN	c.1425C>T	NM_002087.4	NP_002078.1:p.(Cys475=)	NC_000017.10:g.42429720C>T	(Likely) benign	1 lab	1754b9addc
19:56249689 MISSING G>Alt too long to show for this DUP	19	56249689	56755323	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.56249691_56755323dup	(Likely) pathogenic	1 lab	1a1807de40
3:41910778 ULK4 Ref too long to show for this DEL>T	3	41910778	41994115	Ref too long to show for this DEL	T	ULK4	c.138+1999_1656+14587del	NM_017886.4	NP_060356.2:p.?	NC_000003.11:g.41910779_41994115del	VUS	1 lab	175653d973
12:122260479 SETD1B C>T	12	122260479	122260479	C	T	SETD1B	c.3994C>T	NM_001353345.2	NP_001340274.1:p.(Arg1332Trp)	NC_000012.11:g.122260479C>T	(Likely) benign	1 lab	175a8d7013
12:125296483 SCARB1 G>A	12	125296483	125296483	G	A	SCARB1	c.659C>T	NM_001367981.1	NP_001354910.1:p.(Thr220Met)	NC_000012.11:g.125296483G>A	VUS	1 lab	175ba5ca6e
18:58039479 MC4R T>C	18	58039479	58039479	T	C	MC4R	c.104A>G	NM_005912.3	NP_005903.2:p.(Tyr35Cys)	NC_000018.9:g.58039479T>C	(Likely) benign	1 lab	175d77c401
19:1219428 STK11 AG>A	19	1219428	1219432	AG	A	STK11	c.464+20del	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1219432del	(Likely) benign	1 lab	175e7dc593
22:21798906 MISSING Ref too long to show for this DEL>C	22	21798906	22962963	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21798908_22962963del	(Likely) pathogenic	1 lab	175ff0a543
10:73537538 CDH23 G>A	10	73537538	73537538	G	A	CDH23	c.4947G>A	NM_022124.6	NP_071407.4:p.(Thr1649=)	NC_000010.10:g.73537538G>A	(Likely) benign	1 lab	1760faea5c
20:25275602 ABHD12 G>A	20	25275602	25275602	G	A	ABHD12	c.*7C>T	NM_015600.5	NP_056415.1:p.?	NC_000020.10:g.25275602G>A	(Likely) benign	1 lab	17611c4425
2:21256307 APOB G>A	2	21256307	21256307	G	A	APOB	c.988C>T	NM_000384.3	NP_000375.3:p.(Gln330Ter)	NC_000002.11:g.21256307G>A	(Likely) pathogenic	1 lab	17644b0fb9
15:67480009 SMAD3 G>A	15	67480009	67480009	G	A	SMAD3	c.1154+162G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67480009G>A	(Likely) benign	1 lab	176673c223
10:90988039 LIPA A>T	10	90988039	90988039	A	T	LIPA	c.346T>A	NM_001127605.3	NP_001121077.1:p.(Trp116Arg)	NC_000010.10:g.90988039A>T	VUS	1 lab	176d0fcc74
17:36493524 GPR179 G>A	17	36493524	36493524	G	A	GPR179	c.983C>T	NM_001004334.4	NP_001004334.3:p.(Pro328Leu)	NC_000017.10:g.36493524G>A	(Likely) benign	1 lab	176dd8a124
5:89999530 ADGRV1 A>G	5	89999530	89999530	A	G	ADGRV1	c.8204A>G	NM_032119.4	NP_115495.3:p.(Asn2735Ser)	NC_000005.9:g.89999530A>G	(Likely) benign	1 lab	176e7cae0d
17:78081428 GAA G>A	17	78081428	78081428	G	A	GAA	c.765G>A	NM_000152.5	NP_000143.2:p.(Gln255=)	NC_000017.10:g.78081428G>A	VUS	1 lab	176e941823
11:47358013 MYBPC3 T>C	11	47358013	47358013	T	C	MYBPC3	c.2603-451A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358013T>C	(Likely) benign	1 lab	1771de39e8
17:39923851 JUP G>A	17	39923851	39923851	G	A	JUP	c.708-19C>T	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39923851G>A	(Likely) benign	1 lab	1776494fda
6:7579529 DSP G>A	6	7579529	7579529	G	A	DSP	c.3106G>A	NM_004415.4	NP_004406.2:p.(Val1036Ile)	NC_000006.11:g.7579529G>A	VUS	1 lab	1777b33c66
8:113418927 CSMD3 T>C	8	113418927	113418927	T	C	CSMD3	c.5635A>G	NM_198123.2	NP_937756.1:p.(Ser1879Gly)	NC_000008.10:g.113418927T>C	VUS	1 lab	177a906cd8
7:127687009 MISSING A>Alt too long to show for this DUP	7	127687009	127806006	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.127687011_127806006dup	VUS	1 lab	177c8682a6
9:111681591 ELP1 T>C	9	111681591	111681591	T	C	ELP1	c.591A>G	NM_003640.5	NP_003631.2:p.(Gln197=)	NC_000009.11:g.111681591T>C	(Likely) benign	1 lab	178ec876ae
2:179517197 TTN T>G	2	179517197	179517197	T	G	TTN	c.39115A>C	NM_001267550.2	NP_001254479.2:p.(Thr13039Pro)	NC_000002.11:g.179517197T>G	VUS	1 lab	179525f71f
8:10467652 RP1L1 G>GCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCC	8	10467652	10467654	G	GCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCC	RP1L1	c.3955_3956insGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTG	NM_178857.6	NP_849188.4:p.(Ala1319GlyfsTer17)	NC_000008.10:g.10467653_10467654insAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCCC	(Likely) benign	1 lab	177ca6ba64
19:45409136 APOE G>A	19	45409136	45409136	G	A	APOE	c.11G>A	NM_001302688.2	NP_001289617.1:p.(Gly4Glu)	NC_000019.9:g.45409136G>A	(Likely) benign	1 lab	177caef008
17:48273698 COL1A1 G>A	17	48273698	48273698	G	A	COL1A1	c.934C>T	NM_000088.4	NP_000079.2:p.(Arg312Cys)	NC_000017.10:g.48273698G>A	(Likely) pathogenic	1 lab	177d8abfcb
2:215674237 BARD1 C>A	2	215674237	215674237	C	A	BARD1	c.57G>T	NM_000465.4	NP_000456.2:p.(Glu19Asp)	NC_000002.11:g.215674237C>A	VUS	1 lab	17810fc3f4
7:73455372 ELN A>G	7	73455372	73455372	A	G	ELN	c.197-174A>G	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73455372A>G	(Likely) benign	1 lab	178143f3cf
5:37170162 CPLANE1 T>C	5	37170162	37170162	T	C	CPLANE1	c.6443A>G	NM_023073.4	NP_075561.3:p.(Asn2148Ser)	NC_000005.9:g.37170162T>C	(Likely) benign	1 lab	178189454d
2:238244863 COL6A3 TGCA>T	2	238244863	238244877	TGCA	T	COL6A3	c.8877_8879del	NM_004369.4	NP_004360.2:p.(Ala2960del)	NC_000002.11:g.238244875_238244877del	(Likely) benign	1 lab	1781e3958e
8:19816887 LPL A>G	8	19816887	19816887	A	G	LPL	c.1135A>G	NM_000237.3	NP_000228.1:p.(Thr379Ala)	NC_000008.10:g.19816887A>G	(Likely) benign	1 lab	1788c77fc6
19:45411428 APOE G>A	19	45411428	45411428	G	A	APOE	c.314+219G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45411428G>A	(Likely) benign	1 lab	178cefcf80
18:47094422 LIPG T>C	18	47094422	47094422	T	C	LIPG	c.459+431T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47094422T>C	(Likely) benign	1 lab	179351671d
2:25095605 ADCY3 A>G	2	25095605	25095605	A	G	ADCY3	c.676-17T>C	NM_004036.5	NP_004027.2:p.?	NC_000002.11:g.25095605A>G	(Likely) benign	1 lab	17955764c9
19:1440457 RPS15 A>T	19	1440457	1440457	A	T	RPS15	c.455A>T	NM_001308226.2	NP_001295155.1:p.(Lys152Met)	NC_000019.9:g.1440457A>T	VUS	1 lab	17966338fb
17:7996857 MISSING A>Alt too long to show for this DUP	17	7996857	8332599	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.7996859_8332599dup	VUS	1 lab	1797443907
8:38884337 ADAM9 C>G	8	38884337	38884337	C	G	ADAM9	c.1130+8C>G	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38884337C>G	(Likely) benign	1 lab	1799d47dcf
7:141730254 MGAM C>T	7	141730254	141730254	C	T	MGAM	c.1314C>T	NM_001365693.1	NP_001352622.1:p.(Asn438=)	NC_000007.13:g.141730254C>T	(Likely) benign	1 lab	1799e96870
9:107599708 ABCA1 C>T	9	107599708	107599708	C	T	ABCA1	c.1194+1G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599708C>T	(Likely) pathogenic	1 lab	179d10f21e
X:41205794 DDX3X CAT>C	X	41205794	41205796	CAT	C	DDX3X	c.1535_1536del	NM_001193416.3	NP_001180345.1:p.(His512ArgfsTer5)	NC_000023.10:g.41205795_41205796del	(Likely) pathogenic	1 lab	17a5422b7c
5:133945653 SAR1B C>T	5	133945653	133945653	C	T	SAR1B	c.245-289G>A	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133945653C>T	(Likely) benign	1 lab	17aa8adf7f
2:98128135 ANKRD36B G>A	2	98128135	98128135	G	A	ANKRD36B	c.3186C>T	NM_025190.4	NP_079466.3:p.(Asp1062=)	NC_000002.11:g.98128135G>A	(Likely) benign	1 lab	17aa940a9e
9:869999 DMRT1 Ref too long to show for this DEL>G	9	869999	874688	Ref too long to show for this DEL	G	DMRT1	c.538+22857_539-19224del	NM_021951.3	NP_068770.2:p.?	NC_000009.11:g.870000_874688del	VUS	1 lab	17ac9f6d9b
2:179561000 TTN A>G	2	179561000	179561000	A	G	TTN	c.30803-4T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179561000A>G	(Likely) benign	1 lab	17ad3bcdfa
21:34157235 EPCIP-AS1 GT>G	21	34157235	34157247	GT	G	EPCIP-AS1	n.344+17del	NR_024622.1		NC_000021.8:g.34157247del	(Likely) benign	1 lab	17ad419a02
2:179665386 TTN C>T	2	179665386	179665386	C	T	TTN	c.319G>A	NM_001267550.2	NP_001254479.2:p.(Val107Ile)	NC_000002.11:g.179665386C>T	VUS	1 lab	17b5d05a34
16:81411495 GAN A>G	16	81411495	81411495	A	G	GAN	c.*294A>G	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81411495A>G	(Likely) benign	1 lab	17b5d648f4
8:144297361 GPIHBP1 G>A	8	144297361	144297361	G	A	GPIHBP1	c.523G>A	NM_178172.6	NP_835466.2:p.(Gly175Ser)	NC_000008.10:g.144297361G>A	VUS	1 lab	17b6a1d763
3:100451343 TFG T>C	3	100451343	100451343	T	C	TFG	c.416-9T>C	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100451343T>C	(Likely) benign	1 lab	17b7c8825f
2:179435221 TTN A>G	2	179435221	179435221	A	G	TTN	c.75638T>C	NM_001267550.2	NP_001254479.2:p.(Val25213Ala)	NC_000002.11:g.179435221A>G	(Likely) benign	1 lab	17b834e3db
9:137721550 MISSING Ref too long to show for this DEL>T	9	137721550	138964913	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.137721551_138964913del	(Likely) pathogenic	1 lab	17b9675af3
14:64612845 SYNE2 C>T	14	64612845	64612845	C	T	SYNE2	c.15543C>T	NM_182914.3	NP_878918.2:p.(Ile5181=)	NC_000014.8:g.64612845C>T	(Likely) benign	1 lab	17b97a83c6
19:11213142 LDLR C>T	19	11213142	11213142	C	T	LDLR	c.191-198C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213142C>T	(Likely) benign	1 lab	17ba68e7c0
3:30722484 TGFBR2 C>T	3	30722484	30722484	C	T	TGFBR2	c.1471+6746C>T	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30722484C>T	(Likely) benign	1 lab	17bc3272d1
6:126075709 HEY2 A>ATT	6	126075709	126075724	A	ATT	HEY2	c.328+31_328+32dup	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075723_126075724dup	(Likely) benign	1 lab	17c009c1e3
5:137222978 MYOT T>A	5	137222978	137222978	T	A	MYOT	c.1401T>A	NM_006790.3	NP_006781.1:p.(Asn467Lys)	NC_000005.9:g.137222978T>A	VUS	1 lab	17c2ccef25
1:74901800 TNNI3K G>C	1	74901800	74901800	G	C	TNNI3K	c.1809G>C	NM_015978.3	NP_057062.1:p.(Val603=)	NC_000001.10:g.74901800G>C	(Likely) benign	1 lab	17c3f361ea
19:16596016 CALR3 GAAAT>G	19	16596016	16596020	GAAAT	G	CALR3	c.446_449del	NM_145046.5	NP_659483.2:p.(His149ProfsTer11)	NC_000019.9:g.16596017_16596020del	(Likely) benign	1 lab	17c48d125f
16:46781872 MYLK3 A>G	16	46781872	46781872	A	G	MYLK3	c.234T>C	NM_182493.3	NP_872299.2:p.(Ala78=)	NC_000016.9:g.46781872A>G	(Likely) benign	1 lab	17c7e0ce80
9:101900461 TGFBR1 T>C	9	101900461	101900461	T	C	TGFBR1	c.805+90T>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101900461T>C	(Likely) benign	1 lab	17c89ff11b
9:137726951 COL5A1 G>A	9	137726951	137726951	G	A	COL5A1	c.5271G>A	NM_000093.5	NP_000084.3:p.(Thr1757=)	NC_000009.11:g.137726951G>A	(Likely) benign	1 lab	17c8e7de5f
4:143249499 INPP4B Ref too long to show for this DEL>A	4	143249499	143288995	Ref too long to show for this DEL	A	INPP4B	c.372+35097_373-13585del	NM_001101669.3	NP_001095139.1:p.?	NC_000004.11:g.143249501_143288995del	VUS	1 lab	17cba3c4ed
1:25891717 LDLRAP1 G>T	1	25891717	25891717	G	T	LDLRAP1	c.782+19G>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891717G>T	(Likely) benign	1 lab	17ccda57f8
7:150644921 KCNH2 G>A	7	150644921	150644921	G	A	KCNH2	c.2738C>T	NM_000238.4	NP_000229.1:p.(Ala913Val)	NC_000007.13:g.150644921G>A	(Likely) benign	1 lab	17d047a01b
4:22444260 ADGRA3 A>T	4	22444260	22444260	A	T	ADGRA3	c.920+13T>A	NM_145290.4	NP_660333.2:p.?	NC_000004.11:g.22444260A>T	(Likely) benign	1 lab	17d2479c24
12:57944072 KIF5A C>T	12	57944072	57944072	C	T	KIF5A	c.18C>T	NM_004984.4	NP_004975.2:p.(Asn6=)	NC_000012.11:g.57944072C>T	(Likely) benign	1 lab	17d35afecf
X:13775752 OFD1 AT>A	X	13775752	13775768	AT	A	OFD1	c.1412-11del	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13775768del	(Likely) benign	1 lab	17d8c1e6ea
15:89828457 FANCI C>T	15	89828457	89828457	C	T	FANCI	c.1821+8C>T	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89828457C>T	(Likely) benign	1 lab	17d8d8238f
10:112541136 RBM20 A>G	10	112541136	112541136	A	G	RBM20	c.769A>G	NM_001134363.3	NP_001127835.2:p.(Thr257Ala)	NC_000010.10:g.112541136A>G	VUS	1 lab	17e0593956
10:90695110 ACTA2 G>C	10	90695110	90695110	G	C	ACTA2	c.1004C>G	NM_001141945.2	NP_001135417.1:p.(Pro335Arg)	NC_000010.10:g.90695110G>C	(Likely) pathogenic	1 lab	17e0af15d4
15:85383729 ALPK3 C>T	15	85383729	85383729	C	T	ALPK3	c.1219C>T	NM_020778.5	NP_065829.4:p.(Pro407Ser)	NC_000015.9:g.85383729C>T	VUS	1 lab	17e1426215
10:75758147 VCL G>T	10	75758147	75758147	G	T	VCL	c.168+14G>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75758147G>T	(Likely) benign	1 lab	17e3bfebf6
2:179434006 TTN ACT>A	2	179434006	179434008	ACT	A	TTN	c.76851_76852del	NM_001267550.2	NP_001254479.2:p.(Val25618IlefsTer21)	NC_000002.11:g.179434007_179434008del	(Likely) pathogenic	1 lab	17e3d47e82
2:179640287 TTN C>A	2	179640287	179640287	C	A	TTN	c.6304G>T	NM_001267550.2	NP_001254479.2:p.(Val2102Leu)	NC_000002.11:g.179640287C>A	VUS	1 lab	17e40aef9e
5:82834807 VCAN C>A	5	82834807	82834807	C	A	VCAN	c.5985C>A	NM_004385.5	NP_004376.2:p.(Ser1995Arg)	NC_000005.9:g.82834807C>A	VUS	1 lab	17e76f29b7
17:75398608 SEPTIN9 G>A	17	75398608	75398608	G	A	SEPTIN9	c.490G>A	NM_006640.5	NP_006631.2:p.(Asp164Asn)	NC_000017.10:g.75398608G>A	VUS	1 lab	17e99b51e9
22:51125350 MISSING Ref too long to show for this DEL>A	22	51125350	51178406	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.51125352_51178406del	(Likely) pathogenic	1 lab	17ea520ad8
15:30405515 MISSING Ref too long to show for this DEL>C	15	30405515	32899560	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.30405518_32899560del	(Likely) pathogenic	1 lab	17ee7d42c6
13:95157208 DCT T>C	13	95157208	95157208	T	C	DCT	c.63A>G	NM_001322186.2	NP_001309115.1:p.(Leu21=)	NC_000013.10:g.95157208T>C	(Likely) benign	1 lab	17eea7b539
11:70332914 SHANK2 C>A	11	70332914	70332914	C	A	SHANK2	c.3484G>T	NM_012309.5	NP_036441.2:p.(Glu1162Ter)	NC_000011.9:g.70332914C>A	(Likely) pathogenic	1 lab	17ef58baf6
15:59180748 SLTM A>G	15	59180748	59180748	A	G	SLTM	c.2211T>C	NM_024755.4	NP_079031.2:p.(Asp737=)	NC_000015.9:g.59180748A>G	(Likely) benign	1 lab	17efc34d25
15:58853098 LIPC C>T	15	58853098	58853098	C	T	LIPC	c.1087C>T	NM_000236.3	NP_000227.2:p.(Gln363Ter)	NC_000015.9:g.58853098C>T	VUS	1 lab	17f0be040a
5:133956680 SAR1B A>G	5	133956680	133956680	A	G	SAR1B	c.121T>C	NM_001033503.3	NP_001028675.1:p.(Leu41=)	NC_000005.9:g.133956680A>G	(Likely) benign	1 lab	17f64613d2
19:11210913 LDLR G>A	19	11210913	11210913	G	A	LDLR	c.82G>A	NM_000527.5	NP_000518.1:p.(Glu28Lys)	NC_000019.9:g.11210913G>A	(Likely) benign	1 lab	17f6c4f857
16:29580020 MISSING Ref too long to show for this DEL>A	16	29580020	30177916	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29580021_30177916del	(Likely) pathogenic	1 lab	17f71bf414
13:50119010 RCBTB1 C>T	13	50119010	50119010	C	T	RCBTB1	c.1046-11G>A	NM_018191.4	NP_060661.3:p.?	NC_000013.10:g.50119010C>T	(Likely) benign	1 lab	17fa51b221
9:101904742 TGFBR1 T>A	9	101904742	101904742	T	A	TGFBR1	c.806-76T>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101904742T>A	(Likely) benign	1 lab	1802c536c6
15:28947699 GOLGA8M A>G	15	28947699	28947699	A	G	GOLGA8M	c.1479T>C	NM_001282468.2	NP_001269397.1:p.(His493=)	NC_000015.9:g.28947699A>G	(Likely) benign	1 lab	1806880977
11:63398809 ATL3 C>A	11	63398809	63398809	C	A	ATL3	c.1242G>T	NM_015459.5	NP_056274.3:p.(Gln414His)	NC_000011.9:g.63398809C>A	VUS	1 lab	1807659129
22:24399040 MISSING C>Alt too long to show for this DUP	22	24399040	24994081	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.24399041_24994081dup	(Likely) pathogenic	1 lab	180b980740
11:17518376 USH1C G>A	11	17518376	17518376	G	A	USH1C	c.2491-16C>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17518376G>A	(Likely) benign	1 lab	180dbda52a
10:27703118 PTCHD3 G>C	10	27703118	27703118	G	C	PTCHD3	c.62C>G	NM_001034842.4	NP_001030014.2:p.(Pro21Arg)	NC_000010.10:g.27703118G>C	(Likely) benign	1 lab	180f41c314
12:100041926 ANKS1B Ref too long to show for this DEL>G	12	100041926	100290675	Ref too long to show for this DEL	G	ANKS1B	c.135-71508_1272+6918del	NM_001352186.2	NP_001339115.1:p.?	NC_000012.11:g.100041927_100290675del	VUS	1 lab	180fb86b40
2:189865895 COL3A1 A>G	2	189865895	189865895	A	G	COL3A1	c.2284-228A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189865895A>G	(Likely) benign	1 lab	1810587e0c
11:65181042 MISSING Ref too long to show for this DEL>C	11	65181042	65209251	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.65181043_65209251del	VUS	1 lab	1810d51aa1
15:89821953 FANCI G>A	15	89821953	89821953	G	A	FANCI	c.1329G>A	NM_001113378.2	NP_001106849.1:p.(Gln443=)	NC_000015.9:g.89821953G>A	(Likely) benign	1 lab	181213940f
12:125323776 SCARB1 C>A	12	125323776	125323776	C	A	SCARB1	c.127-21523G>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125323776C>A	(Likely) benign	1 lab	181b572a41
1:55518190 PCSK9 AC>A	1	55518190	55518198	AC	A	PCSK9	c.657+114del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518198del	(Likely) benign	1 lab	1820208f60
7:150647100 KCNH2 C>T	7	150647100	150647100	C	T	KCNH2	c.2554G>A	NM_172056.2	NP_742053.1:p.(Gly852Arg)	NC_000007.13:g.150647100C>T	(Likely) benign	1 lab	1826b5d5b3
11:47353483 MYBPC3 A>G	11	47353483	47353483	A	G	MYBPC3	c.3815-51T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353483A>G	(Likely) benign	1 lab	1827ebf911
3:32571823 DYNC1LI1 GA>G	3	32571823	32571840	GA	G	DYNC1LI1	c.1141-4del	NM_016141.4	NP_057225.2:p.?	NC_000003.11:g.32571840del	(Likely) benign	1 lab	182ec3bcc7
6:75861874 COL12A1 G>A	6	75861874	75861874	G	A	COL12A1	c.3808C>T	NM_004370.6	NP_004361.3:p.(Pro1270Ser)	NC_000006.11:g.75861874G>A	VUS	1 lab	182f83ac87
8:90796369 RIPK2 T>TA	8	90796369	90796392	T	TA	RIPK2	c.1029+25dup	NM_003821.6	NP_003812.1:p.?	NC_000008.10:g.90796392dup	(Likely) benign	1 lab	1832de58fb
16:77162796 MISSING Ref too long to show for this DEL>C	16	77162796	77359793	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.77162798_77359793del	VUS	1 lab	18382726a6
6:7558740 DSP CTTT>C	6	7558740	7558765	CTTT	C	DSP	c.422+266_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558763_7558765del	(Likely) benign	1 lab	183c040c05
4:120085477 MYOZ2 T>C	4	120085477	120085477	T	C	MYOZ2	c.488T>C	NM_016599.5	NP_057683.1:p.(Leu163Ser)	NC_000004.11:g.120085477T>C	(Likely) benign	1 lab	183c0e460e
20:50374539 MISSING G>Alt too long to show for this DUP	20	50374539	50447923	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.50374540_50447923dup	VUS	1 lab	183c9bdee7
5:140214157 PCDHA7 G>T	5	140214157	140214157	G	T	PCDHA7	c.189G>T	NM_018910.3	NP_061733.1:p.(Leu63=)	NC_000005.9:g.140214157G>T	(Likely) benign	1 lab	183de24b4d
1:236897923 ACTN2 ACTGT>A	1	236897923	236897930	ACTGT	A	ACTN2	c.698-1008_698-1005del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897927_236897930del	(Likely) benign	1 lab	183e6c6bd9
2:179553730 TTN ATT>A	2	179553730	179553754	ATT	A	TTN	c.28363+48_28363+49del	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179553753_179553754del	(Likely) benign	1 lab	183e8fea9b
12:69980613 CCT2 A>G	12	69980613	69980613	A	G	CCT2	c.3+15A>G	NM_001198842.2	NP_001185771.1:p.?	NC_000012.11:g.69980613A>G	(Likely) benign	1 lab	184333d5ea
16:23641173 PALB2 AGACT>A	16	23641173	23641179	AGACT	A	PALB2	c.2298_2301del	NM_024675.4	NP_078951.2:p.(Cys768LeufsTer82)	NC_000016.9:g.23641176_23641179del	(Likely) pathogenic	1 lab	184863b83f
22:50895020 SBF1 C>T	22	50895020	50895020	C	T	SBF1	c.3987G>A	NM_002972.4	NP_002963.2:p.(Ala1329=)	NC_000022.10:g.50895020C>T	(Likely) benign	1 lab	1848bb8366
4:100542623 MTTP T>C	4	100542623	100542623	T	C	MTTP	c.2513+235T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542623T>C	(Likely) benign	1 lab	184973e31a
12:49426613 KMT2D G>A	12	49426613	49426613	G	A	KMT2D	c.11875C>T	NM_003482.4	NP_003473.3:p.(Gln3959Ter)	NC_000012.11:g.49426613G>A	(Likely) pathogenic	1 lab	1849ab74af
3:46902150 MYL3 C>G	3	46902150	46902150	C	G	MYL3	c.307+16G>C	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902150C>G	(Likely) benign	1 lab	1849c0e0f0
2:21255166 APOB G>T	2	21255166	21255166	G	T	APOB	c.1352+60C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255166G>T	(Likely) benign	1 lab	184a9aa98a
1:186039778 HMCN1 G>A	1	186039778	186039778	G	A	HMCN1	c.8028G>A	NM_031935.3	NP_114141.2:p.(Gly2676=)	NC_000001.10:g.186039778G>A	(Likely) benign	1 lab	184c9d19dd
7:103883001 MISSING C>Alt too long to show for this DUP	7	103883001	103984124	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.103883002_103984124dup	VUS	1 lab	184d770c51
19:48215001 MISSING Ref too long to show for this DEL>T	19	48215001	48252123	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.48215003_48252123del	VUS	1 lab	1850d414d7
15:85401950 ALPK3 G>A	15	85401950	85401950	G	A	ALPK3	c.3817+164G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85401950G>A	(Likely) benign	1 lab	18521f2c8d
1:3347517 PRDM16 C>T	1	3347517	3347517	C	T	PRDM16	c.3366C>T	NM_022114.4	NP_071397.3:p.(Asp1122=)	NC_000001.10:g.3347517C>T	(Likely) benign	1 lab	1858d0e632
6:112486350 LAMA4 G>A	6	112486350	112486350	G	A	LAMA4	c.1668+12C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112486350G>A	(Likely) benign	1 lab	185ce1ba58
12:1183826 ERC1 T>Alt too long to show for this DUP	12	1183826	1250804	T	Alt too long to show for this DUP	ERC1	c.670-8503_1588dup	NM_178040.4	NP_829884.1:p.?	NC_000012.11:g.1183827_1250804dup	VUS	1 lab	186379fc6b
18:57107021 CCBE1 C>G	18	57107021	57107021	C	G	CCBE1	c.803G>C	NM_133459.4	NP_597716.1:p.(Gly268Ala)	NC_000018.9:g.57107021C>G	(Likely) pathogenic	1 lab	1865ef9e03
6:75848157 COL12A1 C>A	6	75848157	75848157	C	A	COL12A1	c.5230+7G>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75848157C>A	(Likely) benign	1 lab	18681957ca
17:7792399 CHD3 T>A	17	7792399	7792399	T	A	CHD3	c.81T>A	NM_001005273.3	NP_001005273.1:p.(Cys27Ter)	NC_000017.10:g.7792399T>A	VUS	1 lab	18696a6673
11:68696694 IGHMBP2 C>A	11	68696694	68696694	C	A	IGHMBP2	c.1104C>A	NM_002180.3	NP_002171.2:p.(Tyr368Ter)	NC_000011.9:g.68696694C>A	(Likely) pathogenic	1 lab	186e1379c0
2:179426310 TTN T>C	2	179426310	179426310	T	C	TTN	c.84549A>G	NM_001267550.2	NP_001254479.2:p.(Gly28183=)	NC_000002.11:g.179426310T>C	(Likely) benign	1 lab	186f5c25da
19:45409432 APOE C>CA	19	45409432	45409433	C	CA	APOE	c.55+253dup	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409433dup	(Likely) benign	1 lab	186f652379
2:44050979 ABCG5 T>A	2	44050979	44050979	T	A	ABCG5	c.1324+73A>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44050979T>A	(Likely) benign	1 lab	186f8ff671
22:33254047 TIMP3 C>T	22	33254047	33254047	C	T	TIMP3	c.360C>T	NM_000362.5	NP_000353.1:p.(Phe120=)	NC_000022.10:g.33254047C>T	(Likely) benign	1 lab	1870f56046
12:124358220 DNAH10 G>A	12	124358220	124358220	G	A	DNAH10	c.7547G>A	NM_207437.3	NP_997320.2:p.(Arg2516His)	NC_000012.11:g.124358220G>A	(Likely) benign	1 lab	18718b5190
9:79968346 VPS13A T>G	9	79968346	79968346	T	G	VPS13A	c.7441T>G	NM_033305.3	NP_150648.2:p.(Leu2481Val)	NC_000009.11:g.79968346T>G	(Likely) benign	1 lab	1871aca218
12:21375306 SLCO1B1 GAAAAAA>G	12	21375306	21375332	GAAAAAA	G	SLCO1B1	c.1747+29_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375327_21375332del	(Likely) benign	1 lab	187a727f9d
10:18828577 CACNB2 A>AGGG	10	18828577	18828578	A	AGGG	CACNB2	c.1742_1743insGGG	NM_000724.4	NP_000715.2:p.(Glu581_Lys582insGly)	NC_000010.10:g.18828577_18828578insGGG	(Likely) benign	1 lab	187af0d970
12:49172030 ADCY6 T>C	12	49172030	49172030	T	C	ADCY6	c.875A>G	NM_015270.5	NP_056085.1:p.(Asn292Ser)	NC_000012.11:g.49172030T>C	VUS	1 lab	187d81bdbd
18:42531029 SETBP1 ACAGTCTTACTGTGATCACTC>A	18	42531029	42531054	ACAGTCTTACTGTGATCACTC	A	SETBP1	c.1730_1749del	NM_015559.3	NP_056374.2:p.(Leu577GlnfsTer20)	NC_000018.9:g.42531035_42531054del	(Likely) pathogenic	1 lab	187e0aa007
17:48277244 COL1A1 C>T	17	48277244	48277244	C	T	COL1A1	c.168G>A	NM_000088.4	NP_000079.2:p.(Glu56=)	NC_000017.10:g.48277244C>T	(Likely) benign	1 lab	187ece0b93
16:81380599 MISSING Ref too long to show for this DEL>T	16	81380599	81433416	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.81380602_81433416del	VUS	1 lab	187f647292
4:41069067 APBB2 Ref too long to show for this DEL>G	4	41069067	41140750	Ref too long to show for this DEL	G	APBB2	c.-261+4255_-148-1378del	NM_004307.2	NP_004298.1:p.?	NC_000004.11:g.41069069_41140750del	VUS	1 lab	1881ceb58a
12:49312097 DRC2 A>AC	12	49312097	49312098	A	AC	DRC2	c.649_650insC	NM_033124.5	NP_149115.2:p.(Asn217ThrfsTer19)	NC_000012.11:g.49312097_49312098insC	(Likely) pathogenic	1 lab	188269d806
17:15162507 PMP22 A>G	17	15162507	15162507	A	G	PMP22	c.82T>C	NM_000304.4	NP_000295.1:p.(Trp28Arg)	NC_000017.10:g.15162507A>G	(Likely) pathogenic	1 lab	1882a34b3e
12:122261163 SETD1B G>A	12	122261163	122261163	G	A	SETD1B	c.4678G>A	NM_001353345.2	NP_001340274.1:p.(Val1560Ile)	NC_000012.11:g.122261163G>A	(Likely) benign	1 lab	188312f28f
10:48388684 RBP3 C>T	10	48388684	48388684	C	T	RBP3	c.2194G>A	NM_002900.3	NP_002891.1:p.(Ala732Thr)	NC_000010.10:g.48388684C>T	VUS	1 lab	1883e6b78f
14:21869200 CHD8 G>A	14	21869200	21869200	G	A	CHD8	c.4204C>T	NM_001170629.2	NP_001164100.1:p.(Arg1402Ter)	NC_000014.8:g.21869200G>A	(Likely) pathogenic	1 lab	188552228a
7:154171792 DPP6 G>A	7	154171792	154171792	G	A	DPP6	c.173-232G>A	NM_001936.5	NP_001927.3:p.?	NC_000007.13:g.154171792G>A	(Likely) benign	1 lab	1887106825
16:16251647 ABCC6 G>A	16	16251647	16251647	G	A	ABCC6	c.3755C>T	NM_001171.6	NP_001162.5:p.(Thr1252Ile)	NC_000016.9:g.16251647G>A	(Likely) benign	1 lab	18888e1311
10:68311051 CTNNA3 Ref too long to show for this DEL>T	10	68311051	68502515	Ref too long to show for this DEL	T	CTNNA3	c.1281+23507_1375-30521del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68311052_68502515del	VUS	1 lab	18891acdfd
5:23208078 MISSING Ref too long to show for this DEL>T	5	23208078	23976534	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.23208080_23976534del	VUS	1 lab	18900f2b89
2:241659295 KIF1A C>T	2	241659295	241659295	C	T	KIF1A	c.4917G>A	NM_001244008.2	NP_001230937.1:p.(Leu1639=)	NC_000002.11:g.241659295C>T	(Likely) benign	1 lab	18955527b4
6:7567645 DSP T>C	6	7567645	7567645	T	C	DSP	c.1103T>C	NM_004415.4	NP_004406.2:p.(Ile368Thr)	NC_000006.11:g.7567645T>C	VUS	1 lab	1899240487
11:47354700 MYBPC3 G>A	11	47354700	47354700	G	A	MYBPC3	c.3330+45C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354700G>A	(Likely) benign	1 lab	189ae8a651
12:48376664 COL2A1 G>T	12	48376664	48376664	G	T	COL2A1	c.2160C>A	NM_001844.5	NP_001835.3:p.(Gly720=)	NC_000012.11:g.48376664G>T	(Likely) benign	1 lab	189c0a9ea6
2:21225140 APOB C>T	2	21225140	21225140	C	T	APOB	c.13154G>A	NM_000384.3	NP_000375.3:p.(Arg4385His)	NC_000002.11:g.21225140C>T	(Likely) benign	1 lab	189cbcffef
1:63922987 ITGB3BP Ref too long to show for this DEL>T	1	63922987	63963652	Ref too long to show for this DEL	T	ITGB3BP	c.49-7763_255-2349del	NM_014288.5	NP_055103.3:p.?	NC_000001.10:g.63922988_63963652del	VUS	1 lab	189cd79a65
8:22066975 BMP1 C>T	8	22066975	22066975	C	T	BMP1	c.2593C>T	NM_006129.5	NP_006120.1:p.(Arg865Trp)	NC_000008.10:g.22066975C>T	VUS	1 lab	18a07e5b75
15:58840723 LIPC A>G	15	58840723	58840723	A	G	LIPC	c.1003A>G	NM_000236.3	NP_000227.2:p.(Lys335Glu)	NC_000015.9:g.58840723A>G	(Likely) benign	1 lab	18a22bcb3b
3:16926544 PLCL2 T>G	3	16926544	16926544	T	G	PLCL2	c.9=	NM_001144382.2	NP_001137854.1:p.(Glu3=)	NC_000003.11:g.16926544T>G	(Likely) benign	1 lab	18a45cfac2
15:41991055 MGA G>T	15	41991055	41991055	G	T	MGA	c.2014-6G>T	NM_001164273.2	NP_001157745.1:p.?	NC_000015.9:g.41991055G>T	(Likely) benign	1 lab	18a4a8bb40
16:71484621 ZNF23 CA>C	16	71484621	71484635	CA	C	ZNF23	c.143-837del	NM_145911.3	NP_666016.1:p.?	NC_000016.9:g.71484635del	(Likely) benign	1 lab	18a8c5a118
3:38651279 SCN5A C>T	3	38651279	38651279	C	T	SCN5A	c.880G>A	NM_198056.3	NP_932173.1:p.(Val294Met)	NC_000003.11:g.38651279C>T	VUS	1 lab	18a950e742
10:88439137 LDB3 G>A	10	88439137	88439137	G	A	LDB3	c.107G>A	NM_001171610.2	NP_001165081.1:p.(Ser36Asn)	NC_000010.10:g.88439137G>A	VUS	1 lab	18aa356d9c
4:100521825 MTTP G>A	4	100521825	100521825	G	A	MTTP	c.1171G>A	NM_000253.4	NP_000244.2:p.(Glu391Lys)	NC_000004.11:g.100521825G>A	VUS	1 lab	18ab8e807f
16:29608348 MISSING Ref too long to show for this DEL>A	16	29608348	30177999	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29608349_30177999del	(Likely) pathogenic	1 lab	18b0924ce7
15:48752317 FBN1 G>T	15	48752317	48752317	G	T	FBN1	c.5296+126C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752317G>T	(Likely) benign	1 lab	18b19cbe28
X:2863849 MISSING C>Alt too long to show for this DUP	X	2863849	2942987	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2863851_2942987dup	VUS	1 lab	18b3a5d23e
2:219676934 CYP27A1 C>T	2	219676934	219676934	C	T	CYP27A1	c.447-11C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219676934C>T	(Likely) benign	1 lab	18b67f7fee
3:81539586 GBE1 A>T	3	81539586	81539586	A	T	GBE1	c.2081T>A	NM_000158.4	NP_000149.4:p.(Ile694Asn)	NC_000003.11:g.81539586A>T	(Likely) pathogenic	1 lab	18ba7ec506
15:48776073 FBN1 C>T	15	48776073	48776073	C	T	FBN1	c.3780G>A	NM_000138.5	NP_000129.3:p.(Glu1260=)	NC_000015.9:g.48776073C>T	(Likely) benign	1 lab	18baaef351
22:26937198 TPST2 C>G	22	26937198	26937198	C	G	TPST2	c.399G>C	NM_001008566.3	NP_001008566.1:p.(Leu133=)	NC_000022.10:g.26937198C>G	(Likely) benign	1 lab	18bfe0125f
12:50501571 GPD1 G>A	12	50501571	50501571	G	A	GPD1	c.834G>A	NM_005276.4	NP_005267.2:p.(Ala278=)	NC_000012.11:g.50501571G>A	(Likely) benign	1 lab	18c0fc54a3
12:48388231 COL2A1 A>C	12	48388231	48388231	A	C	COL2A1	c.792T>G	NM_001844.5	NP_001835.3:p.(Gly264=)	NC_000012.11:g.48388231A>C	(Likely) benign	1 lab	18c1152dfd
17:48273338 COL1A1 C>T	17	48273338	48273338	C	T	COL1A1	c.1003-1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273338C>T	(Likely) pathogenic	1 lab	18c1b03bba
1:63066794 ANGPTL3 A>G	1	63066794	63066794	A	G	ANGPTL3	c.648A>G	NM_014495.4	NP_055310.1:p.(Leu216=)	NC_000001.10:g.63066794A>G	(Likely) benign	1 lab	18c228bac6
8:10464919 RP1L1 G>A	8	10464919	10464919	G	A	RP1L1	c.6689C>T	NM_178857.6	NP_849188.4:p.(Thr2230Ile)	NC_000008.10:g.10464919G>A	(Likely) benign	1 lab	18c2a812f1
16:70941378 HYDIN G>A	16	70941378	70941378	G	A	HYDIN	c.8413C>T	NM_001270974.2	NP_001257903.1:p.(Arg2805Trp)	NC_000016.9:g.70941378G>A	VUS	1 lab	18c44b7e77
6:112430667 LAMA4 T>TA	6	112430667	112430668	T	TA	LAMA4	c.5423dup	NM_002290.5	NP_002281.3:p.(Ser1809LysfsTer11)	NC_000006.11:g.112430668dup	VUS	1 lab	18c9d87561
2:179623850 TTN C>T	2	179623850	179623850	C	T	TTN	c.10164G>A	NM_001267550.2	NP_001254479.2:p.(Arg3388=)	NC_000002.11:g.179623850C>T	(Likely) benign	1 lab	18cba9061d
1:227076727 PSEN2 TC>T	1	227076727	227076729	TC	T	PSEN2	c.766del	NM_000447.3	NP_000438.2:p.(Leu256TrpfsTer19)	NC_000001.10:g.227076729del	(Likely) pathogenic	1 lab	18cc495408
5:89918409 ADGRV1 A>G	5	89918409	89918409	A	G	ADGRV1	c.454-5A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89918409A>G	(Likely) benign	1 lab	18cc69a082
2:21226218 APOB GA>G	2	21226218	21226229	GA	G	APOB	c.12088-13del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226229del	(Likely) benign	1 lab	18cebe45b0
2:179414992 TTN-AS1 T>C	2	179414992	179414992	T	C	TTN-AS1	n.2043+7904T>C	NR_038272.1		NC_000002.11:g.179414992T>C	(Likely) benign	1 lab	18d07a89b8
9:138517785 MISSING Ref too long to show for this DEL>C	9	138517785	138546905	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.138517786_138546905del	VUS	1 lab	18d505ce84
10:88439194 LDB3 T>G	10	88439194	88439194	T	G	LDB3	c.164T>G	NM_001171610.2	NP_001165081.1:p.(Val55Gly)	NC_000010.10:g.88439194T>G	VUS	1 lab	18d759f822
12:88523584 CEP290 C>T	12	88523584	88523584	C	T	CEP290	c.739G>A	NM_025114.4	NP_079390.3:p.(Val247Ile)	NC_000012.11:g.88523584C>T	(Likely) benign	1 lab	18d83abf44
12:125296525 SCARB1 A>C	12	125296525	125296525	A	C	SCARB1	c.631-14T>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296525A>C	(Likely) benign	1 lab	18dba86c3e
15:48426690 SLC24A5 T>TAATC	15	48426690	48426694	T	TAATC	SLC24A5	c.445_448dup	NM_205850.3	NP_995322.1:p.(Leu150GlnfsTer14)	NC_000015.9:g.48426691_48426694dup	(Likely) pathogenic	1 lab	18e1d73acd
5:90016024 ADGRV1 T>A	5	90016024	90016024	T	A	ADGRV1	c.9607T>A	NM_032119.4	NP_115495.3:p.(Ser3203Thr)	NC_000005.9:g.90016024T>A	(Likely) benign	1 lab	18e2ae486a
12:21375306 SLCO1B1 G>GAAAAA	12	21375306	21375332	G	GAAAAA	SLCO1B1	c.1747+30_1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375328_21375332dup	(Likely) benign	1 lab	18e352e471
5:138223202 CTNNA1 C>T	5	138223202	138223202	C	T	CTNNA1	c.1167C>T	NM_001903.5	NP_001894.2:p.(His389=)	NC_000005.9:g.138223202C>T	(Likely) benign	1 lab	18e368a1b4
15:58834121 LIPC C>A	15	58834121	58834121	C	A	LIPC	c.411C>A	NM_000236.3	NP_000227.2:p.(Thr137=)	NC_000015.9:g.58834121C>A	(Likely) benign	1 lab	18e6600dde
12:57957445 KIF5A A>G	12	57957445	57957445	A	G	KIF5A	c.260A>G	NM_004984.4	NP_004975.2:p.(Gln87Arg)	NC_000012.11:g.57957445A>G	VUS	1 lab	18e6b3aa16
17:48267499 COL1A1 G>T	17	48267499	48267499	G	T	COL1A1	c.2452-30C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267499G>T	(Likely) benign	1 lab	18e6e6e3a0
19:16687788 MED26 C>CA	19	16687788	16687791	C	CA	MED26	c.852dup	NM_004831.5	NP_004822.2:p.(Ala285CysfsTer59)	NC_000019.9:g.16687791dup	VUS	1 lab	18e9431ece
Y:24874262 MISSING Ref too long to show for this DEL>A	Y	24874262	27328334	Ref too long to show for this DEL	A	MISSING				NC_000024.9:g.24874263_27328334del	(Likely) pathogenic	1 lab	18e99844e5
2:179463690 TTN A>T	2	179463690	179463690	A	T	TTN	c.56747T>A	NM_001267550.2	NP_001254479.2:p.(Val18916Glu)	NC_000002.11:g.179463690A>T	VUS	1 lab	18eaee20a6
3:145804625 PLOD2 A>C	3	145804625	145804625	A	C	PLOD2	c.1076T>G	NM_182943.3	NP_891988.1:p.(Ile359Arg)	NC_000003.11:g.145804625A>C	VUS	1 lab	18f1b0bf5e
17:33446166 RAD51D C>T	17	33446166	33446166	C	T	RAD51D	c.108G>A	NM_002878.4	NP_002869.3:p.(Leu36=)	NC_000017.10:g.33446166C>T	(Likely) benign	1 lab	190080ce10
X:41401965 CASK A>G	X	41401965	41401965	A	G	CASK	c.2134T>C	NM_003688.3	NP_003679.2:p.(Tyr712His)	NC_000023.10:g.41401965A>G	(Likely) pathogenic	1 lab	19098427fa
17:39914044 JUP G>A	17	39914044	39914044	G	A	JUP	c.1774-8C>T	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914044G>A	(Likely) benign	1 lab	1909c2e604
11:6457435 MISSING A>Alt too long to show for this DUP	11	6457435	6478363	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.6457439_6478363dup	VUS	1 lab	190c04d02a
15:95642695 MISSING Ref too long to show for this DEL>C	15	95642695	95933966	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.95642698_95933966del	VUS	1 lab	1912e2acea
11:76893606 MYO7A G>A	11	76893606	76893606	G	A	MYO7A	c.3246G>A	NM_000260.4	NP_000251.3:p.(Thr1082=)	NC_000011.9:g.76893606G>A	(Likely) benign	1 lab	191444e1f8
7:89792252 MISSING A>Alt too long to show for this DUP	7	89792252	89982300	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.89792253_89982300dup	VUS	1 lab	191817218a
22:51063989 ARSA T>G	22	51063989	51063989	T	G	ARSA	c.1210+18A>C	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063989T>G	(Likely) benign	1 lab	19181c9b30
2:179463500 TTN G>C	2	179463500	179463500	G	C	TTN	c.56937C>G	NM_001267550.2	NP_001254479.2:p.(Asp18979Glu)	NC_000002.11:g.179463500G>C	VUS	1 lab	1918bd822a
11:67288860 MISSING A>Alt too long to show for this DUP	11	67288860	67333808	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.67288862_67333808dup	VUS	1 lab	191bb2437b
15:58830658 LIPC T>C	15	58830658	58830658	T	C	LIPC	c.215T>C	NM_000236.3	NP_000227.2:p.(Leu72Ser)	NC_000015.9:g.58830658T>C	VUS	1 lab	19215782a8
2:179639826 TTN T>A	2	179639826	179639826	T	A	TTN	c.6612A>T	NM_001267550.2	NP_001254479.2:p.(Lys2204Asn)	NC_000002.11:g.179639826T>A	VUS	1 lab	192bf1cb67
6:32487189 HLA-DRB5 C>G	6	32487189	32487189	C	G	HLA-DRB5	c.610G>C	NM_002125.4	NP_002116.2:p.(Val204Leu)	NC_000006.11:g.32487189C>G	(Likely) benign	1 lab	192d2c5f5a
16:29654586 MISSING G>Alt too long to show for this DUP	16	29654586	30177224	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29654588_30177224dup	(Likely) pathogenic	1 lab	19306ed627
X:70443658 GJB1 T>A	X	70443658	70443658	T	A	GJB1	c.101T>A	NM_000166.6	NP_000157.1:p.(Met34Lys)	NC_000023.10:g.70443658T>A	(Likely) pathogenic	1 lab	193268e3b2
20:10630174 JAG1 G>A	20	10630174	10630174	G	A	JAG1	c.1344C>T	NM_000214.3	NP_000205.1:p.(Asp448=)	NC_000020.10:g.10630174G>A	(Likely) benign	1 lab	193701a4ac
2:179600360 TTN A>G	2	179600360	179600360	A	G	TTN	c.14813T>C	NM_001267550.2	NP_001254479.2:p.(Phe4938Ser)	NC_000002.11:g.179600360A>G	VUS	1 lab	193b05529d
16:1636203 IFT140 G>A	16	1636203	1636203	G	A	IFT140	c.1083C>T	NM_014714.4	NP_055529.2:p.(Pro361=)	NC_000016.9:g.1636203G>A	(Likely) benign	1 lab	1940d9109b
11:65325227 LTBP3 C>T	11	65325227	65325227	C	T	LTBP3	c.204G>A	NM_001130144.3	NP_001123616.1:p.(Pro68=)	NC_000011.9:g.65325227C>T	(Likely) benign	1 lab	19414484df
10:47087023 NPY4R C>T	10	47087023	47087023	C	T	NPY4R	c.240C>T	NM_005972.6	NP_005963.4:p.(Ile80=)	NC_000010.10:g.47087023C>T	(Likely) benign	1 lab	1943fad91f
16:46762985 MYLK3 G>A	16	46762985	46762985	G	A	MYLK3	c.1723C>T	NM_182493.3	NP_872299.2:p.(Leu575Phe)	NC_000016.9:g.46762985G>A	VUS	1 lab	194570755b
X:48418199 TBC1D25 C>T	X	48418199	48418199	C	T	TBC1D25	c.903C>T	NM_002536.4	NP_002527.1:p.(Tyr301=)	NC_000023.10:g.48418199C>T	(Likely) benign	1 lab	19470567c0
1:156838016 NTRK1 G>T	1	156838016	156838016	G	T	NTRK1	c.549G>T	NM_002529.4	NP_002520.2:p.(Leu183=)	NC_000001.10:g.156838016G>T	(Likely) benign	1 lab	194d46fa69
17:15134392 PMP22 A>G	17	15134392	15134392	A	G	PMP22	c.325T>C	NM_000304.4	NP_000295.1:p.(Cys109Arg)	NC_000017.10:g.15134392A>G	(Likely) pathogenic	1 lab	194d6aaa90
2:179474447 TTN G>A	2	179474447	179474447	G	A	TTN	c.51703C>T	NM_001267550.2	NP_001254479.2:p.(Arg17235Trp)	NC_000002.11:g.179474447G>A	VUS	1 lab	1959d783b6
16:3778613 CREBBP C>A	16	3778613	3778613	C	A	CREBBP	c.6435G>T	NM_004380.3	NP_004371.2:p.(Met2145Ile)	NC_000016.9:g.3778613C>A	VUS	1 lab	195bfe17f2
15:45401083 DUOX2 T>C	15	45401083	45401083	T	C	DUOX2	c.1302A>G	NM_001363711.2	NP_001350640.1:p.(Arg434=)	NC_000015.9:g.45401083T>C	(Likely) benign	1 lab	195d446734
16:57004951 CETP G>A	16	57004951	57004951	G	A	CETP	c.534G>A	NM_000078.3	NP_000069.2:p.(Gly178=)	NC_000016.9:g.57004951G>A	(Likely) benign	1 lab	195d970b18
1:196705939 CFH T>G	1	196705939	196705939	T	G	CFH	c.2414-15T>G	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196705939T>G	(Likely) benign	1 lab	195fca90b9
X:70444188 GJB1 T>C	X	70444188	70444188	T	C	GJB1	c.631T>C	NM_000166.6	NP_000157.1:p.(Tyr211His)	NC_000023.10:g.70444188T>C	(Likely) pathogenic	1 lab	1961a8edcc
2:21266439 APOB A>G	2	21266439	21266439	A	G	APOB	c.83-16T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266439A>G	(Likely) benign	1 lab	1964b34aec
19:55665390 TNNI3 ACACT>A	19	55665390	55665397	ACACT	A	TNNI3	c.549+4_549+7del	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55665394_55665397del	VUS	1 lab	1967cd2dbb
1:156104323 LMNA G>C	1	156104323	156104323	G	C	LMNA	c.639+4G>C	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104323G>C	(Likely) benign	1 lab	196874746c
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	197150c18a
1:161276204 MPZ C>T	1	161276204	161276204	C	T	MPZ	c.499G>A	NM_000530.8	NP_000521.2:p.(Gly167Arg)	NC_000001.10:g.161276204C>T	(Likely) pathogenic	1 lab	1971eba44a
11:76823616 CAPN5 C>T	11	76823616	76823616	C	T	CAPN5	c.298-19C>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76823616C>T	(Likely) benign	1 lab	197283058d
16:66957408 RRAD C>T	16	66957408	66957408	C	T	RRAD	c.649+11G>A	NM_001128850.2	NP_001122322.1:p.?	NC_000016.9:g.66957408C>T	(Likely) benign	1 lab	19734dc46d
9:137644659 COL5A1 G>A	9	137644659	137644659	G	A	COL5A1	c.1719+168G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137644659G>A	(Likely) benign	1 lab	197a63fdaa
4:79367957 FRAS1 ATTC>A	4	79367957	79367965	ATTC	A	FRAS1	c.5939_5941del	NM_025074.7	NP_079350.5:p.(Ser1980del)	NC_000004.11:g.79367963_79367965del	VUS	1 lab	197af628c9
8:19813299 LPL A>G	8	19813299	19813299	A	G	LPL	c.776-53A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813299A>G	(Likely) benign	1 lab	197f9263bf
5:82834247 VCAN C>T	5	82834247	82834247	C	T	VCAN	c.5425C>T	NM_004385.5	NP_004376.2:p.(His1809Tyr)	NC_000005.9:g.82834247C>T	(Likely) benign	1 lab	1980c127be
15:67457264 SMAD3 C>G	15	67457264	67457264	C	G	SMAD3	c.238C>G	NM_005902.4	NP_005893.1:p.(Arg80Gly)	NC_000015.9:g.67457264C>G	(Likely) pathogenic	1 lab	19838ef866
9:107588129 ABCA1 A>T	9	107588129	107588129	A	T	ABCA1	c.2377T>A	NM_005502.4	NP_005493.2:p.(Tyr793Asn)	NC_000009.11:g.107588129A>T	VUS	1 lab	1983bb74ef
11:76957392 GDPD4 Ref too long to show for this DEL>G	11	76957392	76976999	Ref too long to show for this DEL	G	GDPD4	c.707+2507_865-846del	NM_182833.3	NP_878253.1:p.?	NC_000011.9:g.76957397_76976999del	VUS	1 lab	198c8dc28a
12:57440725 MYO1A CAG>C	12	57440725	57440736	CAG	C	MYO1A	c.478-17_478-16del	NM_001256041.2	NP_001242970.1:p.?	NC_000012.11:g.57440735_57440736del	(Likely) benign	1 lab	199046331a
14:89075607 ZC3H14 G>T	14	89075607	89075607	G	T	ZC3H14	c.1869-4G>T	NM_024824.5	NP_079100.2:p.?	NC_000014.8:g.89075607G>T	(Likely) benign	1 lab	19917fe238
11:117199589 CEP164 T>Alt too long to show for this DUP	11	117199589	117225134	T	Alt too long to show for this DUP	CEP164	c.-98+970_393+2430dup	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117199590_117225134dup	VUS	1 lab	1993af736b
5:86669965 CCNH T>TA	5	86669965	86669966	T	TA	CCNH	c.933+20895_933+20896insT	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86669965_86669966insA	(Likely) benign	1 lab	1994a6923a
15:45388274 DUOX2 A>G	15	45388274	45388274	A	G	DUOX2	c.3848-16T>C	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45388274A>G	(Likely) benign	1 lab	199afe9518
2:179458701 TTN T>C	2	179458701	179458701	T	C	TTN	c.58419A>G	NM_001267550.2	NP_001254479.2:p.(Gln19473=)	NC_000002.11:g.179458701T>C	(Likely) benign	1 lab	199b6ac706
4:57797834 REST A>G	4	57797834	57797834	A	G	REST	c.2810A>G	NM_005612.5	NP_005603.3:p.(Lys937Arg)	NC_000004.11:g.57797834A>G	VUS	1 lab	199ebe8d12
6:7567604 DSP G>A	6	7567604	7567604	G	A	DSP	c.1062G>A	NM_004415.4	NP_004406.2:p.(Leu354=)	NC_000006.11:g.7567604G>A	(Likely) benign	1 lab	19ab0c5494
10:91005556 LIPA G>A	10	91005556	91005556	G	A	LIPA	c.112-6C>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005556G>A	(Likely) benign	1 lab	19acdf5e70
3:98312316 CPOX G>A	3	98312316	98312316	G	A	CPOX	c.33C>T	NM_000097.7	NP_000088.3:p.(Gly11=)	NC_000003.11:g.98312316G>A	(Likely) benign	1 lab	19aedd1db3
5:37438719 WDR70 Ref too long to show for this DEL>G	5	37438719	37587647	Ref too long to show for this DEL	G	WDR70	c.552+638_918-17519del	NM_018034.4	NP_060504.1:p.?	NC_000005.9:g.37438721_37587647del	VUS	1 lab	19b15a3393
1:25889917 LDLRAP1 T>C	1	25889917	25889917	T	C	LDLRAP1	c.617-235T>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889917T>C	(Likely) benign	1 lab	19b43147e6
X:70442844 GJB1 C>T	X	70442844	70442844	C	T	GJB1	c.-16-698C>T	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442844C>T	(Likely) benign	1 lab	19b4569006
X:70444074 GJB1 T>C	X	70444074	70444074	T	C	GJB1	c.517T>C	NM_000166.6	NP_000157.1:p.(Cys173Arg)	NC_000023.10:g.70444074T>C	(Likely) pathogenic	1 lab	19b518e5a7
12:48376326 COL2A1 C>A	12	48376326	48376326	C	A	COL2A1	c.2260G>T	NM_001844.5	NP_001835.3:p.(Glu754Ter)	NC_000012.11:g.48376326C>A	(Likely) pathogenic	1 lab	19b7231bce
1:161276512 MPZ T>G	1	161276512	161276512	T	G	MPZ	c.434A>C	NM_000530.8	NP_000521.2:p.(Tyr145Ser)	NC_000001.10:g.161276512T>G	(Likely) pathogenic	1 lab	19bc67ba9e
21:36926447 MISSING T>Alt too long to show for this DUP	21	36926447	37464614	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.36926448_37464614dup	VUS	1 lab	19bcaec4d2
7:107342328 SLC26A4 T>C	7	107342328	107342328	T	C	SLC26A4	c.1860T>C	NM_000441.2	NP_000432.1:p.(Asp620=)	NC_000007.13:g.107342328T>C	(Likely) benign	1 lab	19c04e1d6c
7:30639612 GARS1 A>G	7	30639612	30639612	A	G	GARS1	c.374A>G	NM_002047.4	NP_002038.2:p.(Glu125Gly)	NC_000007.13:g.30639612A>G	(Likely) pathogenic	1 lab	19c058d035
X:8591710 ANOS1 C>G	X	8591710	8591710	C	G	ANOS1	c.257G>C	NM_000216.4	NP_000207.2:p.(Cys86Ser)	NC_000023.10:g.8591710C>G	(Likely) pathogenic	1 lab	19c23848d8
18:45371746 SMAD2 T>C	18	45371746	45371746	T	C	SMAD2	c.1245A>G	NM_001003652.4	NP_001003652.1:p.(Arg415=)	NC_000018.9:g.45371746T>C	(Likely) benign	1 lab	19c804b7d9
3:119198949 POGLUT1 G>A	3	119198949	119198949	G	A	POGLUT1	c.508G>A	NM_152305.3	NP_689518.1:p.(Gly170Arg)	NC_000003.11:g.119198949G>A	VUS	1 lab	19ca79fdcd
1:94496080 ABCA4 A>G	1	94496080	94496080	A	G	ABCA4	c.4256T>C	NM_000350.3	NP_000341.2:p.(Met1419Thr)	NC_000001.10:g.94496080A>G	VUS	1 lab	19ce0fb63b
19:11227686 LDLR G>A	19	11227686	11227686	G	A	LDLR	c.1845+12G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227686G>A	(Likely) benign	1 lab	19cf621337
1:94490493 ABCA4 A>C	1	94490493	94490493	A	C	ABCA4	c.4634+17T>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94490493A>C	(Likely) benign	1 lab	19cfd8d778
15:34550009 SLC12A6 T>TA	15	34550009	34550015	T	TA	SLC12A6	c.517-21dup	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34550015dup	(Likely) benign	1 lab	19d2de5ef2
4:74275201 ALB A>G	4	74275201	74275201	A	G	ALB	c.612A>G	NM_000477.7	NP_000468.1:p.(Pro204=)	NC_000004.11:g.74275201A>G	(Likely) benign	1 lab	19d3ca1bb9
16:943361 LMF1 T>C	16	943361	943361	T	C	LMF1	c.265-289A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943361T>C	(Likely) benign	1 lab	19d46dc515
1:55525173 PCSK9 G>A	1	55525173	55525173	G	A	PCSK9	c.1518G>A	NM_174936.4	NP_777596.2:p.(Lys506=)	NC_000001.10:g.55525173G>A	(Likely) benign	1 lab	19d4fd0240
22:30772244 CCDC157 G>T	22	30772244	30772244	G	T	CCDC157	c.1858-4G>T	NM_001017437.5	NP_001017437.3:p.?	NC_000022.10:g.30772244G>T	(Likely) benign	1 lab	19d7b889bc
17:62045420 SCN4A G>A	17	62045420	62045420	G	A	SCN4A	c.999C>T	NM_000334.4	NP_000325.4:p.(Asn333=)	NC_000017.10:g.62045420G>A	(Likely) benign	1 lab	19d9c7604b
6:7565771 DSP G>A	6	7565771	7565771	G	A	DSP	c.939+18G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565771G>A	(Likely) benign	1 lab	19dbd226df
14:23884930 MYH7 G>A	14	23884930	23884930	G	A	MYH7	c.5065C>T	NM_000257.4	NP_000248.2:p.(Arg1689Cys)	NC_000014.8:g.23884930G>A	VUS	1 lab	19dbddc5fc
16:17292086 XYLT1 C>T	16	17292086	17292086	C	T	XYLT1	c.1272G>A	NM_022166.4	NP_071449.1:p.(Ala424=)	NC_000016.9:g.17292086C>T	(Likely) benign	1 lab	19dcef11f8
21:46925851 COL18A1 C>T	21	46925851	46925851	C	T	COL18A1	c.4423C>T	NM_130444.3	NP_569711.2:p.(Arg1475Cys)	NC_000021.8:g.46925851C>T	(Likely) benign	1 lab	19dda03d20
14:64408852 SYNE2 G>C	14	64408852	64408852	G	C	SYNE2	c.399G>C	NM_182914.3	NP_878918.2:p.(Leu133=)	NC_000014.8:g.64408852G>C	(Likely) benign	1 lab	19df449ffd
2:32476150 NLRC4 G>A	2	32476150	32476150	G	A	NLRC4	c.783C>T	NM_021209.4	NP_067032.3:p.(Ile261=)	NC_000002.11:g.32476150G>A	(Likely) benign	1 lab	19e1c7d93f
X:38145208 RPGR TCCTCCCCTTCTC>T	X	38145208	38145231	TCCTCCCCTTCTC	T	RPGR	c.3032_3043del	NM_001034853.2	NP_001030025.1:p.(Gly1011_Glu1014del)	NC_000023.10:g.38145220_38145231del	(Likely) benign	1 lab	19e5c42ef4
11:47370478 MYBPC3 T>TA	11	47370478	47370479	T	TA	MYBPC3	c.655-387_655-386insT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insA	(Likely) benign	1 lab	19e7440ae0
22:31900291 SFI1 Ref too long to show for this DEL>G	22	31900291	31924730	Ref too long to show for this DEL	G	SFI1	c.-30-3947_147del	NM_001007467.3	NP_001007468.1:p.?	NC_000022.10:g.31900294_31924730del	VUS	1 lab	19e95efffc
1:78392188 NEXN A>G	1	78392188	78392188	A	G	NEXN	c.579A>G	NM_144573.4	NP_653174.3:p.(Glu193=)	NC_000001.10:g.78392188A>G	(Likely) benign	1 lab	19efb368a1
4:55594008 KIT A>T	4	55594008	55594008	A	T	KIT	c.1794A>T	NM_000222.3	NP_000213.1:p.(Gly598=)	NC_000004.11:g.55594008A>T	(Likely) benign	1 lab	19f028c691
22:36535945 MISSING Ref too long to show for this DEL>C	22	36535945	36575523	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.36535946_36575523del	VUS	1 lab	19f02e09ec
9:79867236 VPS13A G>A	9	79867236	79867236	G	A	VPS13A	c.2256G>A	NM_001018037.2	NP_001018047.1:p.(Lys752=)	NC_000009.11:g.79867236G>A	(Likely) benign	1 lab	19f0a78c2c
6:35477678 TULP1 G>T	6	35477678	35477678	G	T	TULP1	c.527C>A	NM_003322.6	NP_003313.3:p.(Pro176Gln)	NC_000006.11:g.35477678G>T	VUS	1 lab	19f3a042bf
16:11643551 LITAF T>C	16	11643551	11643551	T	C	LITAF	c.428A>G	NM_004862.4	NP_004853.2:p.(Asp143Gly)	NC_000016.9:g.11643551T>C	VUS	1 lab	19f4ccab63
6:112469481 LAMA4 G>T	6	112469481	112469481	G	T	LAMA4	c.2231C>A	NM_001105206.3	NP_001098676.2:p.(Thr744Lys)	NC_000006.11:g.112469481G>T	VUS	1 lab	19f5cb9517
8:19819748 LPL A>C	8	19819748	19819748	A	C	LPL	c.1427+18A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819748A>C	(Likely) benign	1 lab	19fb1bcaf0
9:139417283 NOTCH1 G>A	9	139417283	139417283	G	A	NOTCH1	c.742+19C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139417283G>A	(Likely) benign	1 lab	19fd471ae3
4:84477680 MISSING C>Alt too long to show for this DUP	4	84477680	84869909	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.84477681_84869909dup	VUS	1 lab	19fd8e8674
1:237850666 RYR2 C>CT	1	237850666	237850684	C	CT	RYR2	c.9018-71dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850684dup	(Likely) benign	1 lab	19fe97f20b
10:43598087 RET G>A	10	43598087	43598087	G	A	RET	c.625+10G>A	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43598087G>A	(Likely) benign	1 lab	19fee2a966
3:49662566 BSN C>T	3	49662566	49662566	C	T	BSN	c.383C>T	NM_003458.4	NP_003449.2:p.(Thr128Met)	NC_000003.11:g.49662566C>T	(Likely) benign	1 lab	19ff4d6677
11:9875199 SBF2 A>T	11	9875199	9875199	A	T	SBF2	c.2424T>A	NM_001386339.1	NP_001373268.1:p.(Asn808Lys)	NC_000011.9:g.9875199A>T	VUS	1 lab	1a006e5945
20:42744611 JPH2 G>A	20	42744611	42744611	G	A	JPH2	c.1704C>T	NM_020433.5	NP_065166.2:p.(Ser568=)	NC_000020.10:g.42744611G>A	(Likely) benign	1 lab	1a05413419
10:88439864 LDB3 A>T	10	88439864	88439864	A	T	LDB3	c.271A>T	NM_007078.3	NP_009009.1:p.(Thr91Ser)	NC_000010.10:g.88439864A>T	VUS	1 lab	1b9a6ef009
1:1737948 GNB1 T>C	1	1737948	1737948	T	C	GNB1	c.233A>G	NM_002074.5	NP_002065.1:p.(Lys78Arg)	NC_000001.10:g.1737948T>C	(Likely) pathogenic	1 lab	1a065a1823
2:179439302 TTN C>T	2	179439302	179439302	C	T	TTN	c.71557G>A	NM_001267550.2	NP_001254479.2:p.(Asp23853Asn)	NC_000002.11:g.179439302C>T	VUS	1 lab	1a07f3ef32
6:44270802 AARS2 C>T	6	44270802	44270802	C	T	AARS2	c.2255+1G>A	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44270802C>T	(Likely) pathogenic	1 lab	1a0b043f06
20:13765944 NDUFAF5 C>CGCGGGGCGGCGGGGCG	20	13765944	13765969	C	CGCGGGGCGGCGGGGCG	NDUFAF5	c.-474+18_-474+33dup	NM_001352407.2	NP_001339336.1:p.?	NC_000020.10:g.13765954_13765969dup	(Likely) benign	1 lab	1a0b58c41b
19:11215919 LDLR G>A	19	11215919	11215919	G	A	LDLR	c.337G>A	NM_000527.5	NP_000518.1:p.(Glu113Lys)	NC_000019.9:g.11215919G>A	(Likely) pathogenic	1 lab	1a0bda1e14
14:102510700 DYNC1H1 C>T	14	102510700	102510700	C	T	DYNC1H1	c.12774C>T	NM_001376.5	NP_001367.2:p.(Asn4258=)	NC_000014.8:g.102510700C>T	(Likely) benign	1 lab	1a0f138c4e
10:56261357 PCDH15 A>Alt too long to show for this DUP	10	56261357	56294831	A	Alt too long to show for this DUP	PCDH15	c.92-7194_157+26214dup	NM_001384140.1	NP_001371069.1:p.?	NC_000010.10:g.56261358_56294831dup	VUS	1 lab	1a12ae0dce
7:151559507 MISSING T>Alt too long to show for this DUP	7	151559507	151880101	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151559508_151880101dup	VUS	1 lab	1a13a78ca9
6:16145149 MYLIP C>T	6	16145149	16145149	C	T	MYLIP	c.849C>T	NM_013262.4	NP_037394.2:p.(Ala283=)	NC_000006.11:g.16145149C>T	(Likely) benign	1 lab	1a1dcd9178
3:100451488 TFG G>A	3	100451488	100451488	G	A	TFG	c.552G>A	NM_006070.6	NP_006061.2:p.(Ala184=)	NC_000003.11:g.100451488G>A	(Likely) benign	1 lab	1a1e2a3bc9
8:19822796 LPL C>T	8	19822796	19822796	C	T	LPL	c.1428-25C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822796C>T	VUS	1 lab	1a1ee2e844
20:61448969 COL9A3 C>T	20	61448969	61448969	C	T	COL9A3	c.129C>T	NM_001853.4	NP_001844.3:p.(Pro43=)	NC_000020.10:g.61448969C>T	(Likely) benign	1 lab	1a20eddb11
11:119216832 C1QTNF5 G>A	11	119216832	119216832	G	A	C1QTNF5	c.-2442C>T	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216832G>A	(Likely) benign	1 lab	1a23e228ae
6:75901275 COL12A1 A>G	6	75901275	75901275	A	G	COL12A1	c.394+142T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75901275A>G	(Likely) benign	1 lab	1a244de0d6
7:74165716 MISSING Ref too long to show for this DEL>T	7	74165716	74190584	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.74165718_74190584del	(Likely) pathogenic	1 lab	1a25595f28
16:88500430 ZNF469 G>T	16	88500430	88500430	G	T	ZNF469	c.6552G>T	NM_001367624.2	NP_001354553.1:p.(Thr2184=)	NC_000016.9:g.88500430G>T	(Likely) benign	1 lab	1a292b4b80
1:1720547 GNB1 A>G	1	1720547	1720547	A	G	GNB1	c.861T>C	NM_002074.5	NP_002065.1:p.(Ala287=)	NC_000001.10:g.1720547A>G	(Likely) benign	1 lab	1a2c1a4d7a
1:237532889 RYR2 G>A	1	237532889	237532889	G	A	RYR2	c.365G>A	NM_001035.3	NP_001026.2:p.(Arg122His)	NC_000001.10:g.237532889G>A	(Likely) pathogenic	1 lab	1a3006bf2e
18:122130 MISSING Ref too long to show for this DEL>A	18	122130	163382	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.122131_163382del	VUS	1 lab	1a3084c396
10:73483817 CDH23 G>A	10	73483817	73483817	G	A	CDH23	c.3385G>A	NM_022124.6	NP_071407.4:p.(Ala1129Thr)	NC_000010.10:g.73483817G>A	VUS	1 lab	1a31746085
9:116930243 COL27A1 C>T	9	116930243	116930243	C	T	COL27A1	c.408C>T	NM_032888.4	NP_116277.2:p.(Val136=)	NC_000009.11:g.116930243C>T	(Likely) benign	1 lab	1a322aa910
1:3321429 PRDM16 C>T	1	3321429	3321429	C	T	PRDM16	c.1011C>T	NM_022114.4	NP_071397.3:p.(Phe337=)	NC_000001.10:g.3321429C>T	(Likely) benign	1 lab	1a3429c06c
2:196729299 DNAH7 A>G	2	196729299	196729299	A	G	DNAH7	c.7080T>C	NM_018897.3	NP_061720.2:p.(Tyr2360=)	NC_000002.11:g.196729299A>G	(Likely) benign	1 lab	1a35263875
7:151372718 PRKAG2 C>T	7	151372718	151372718	C	T	PRKAG2	c.472G>A	NM_016203.4	NP_057287.2:p.(Gly158Ser)	NC_000007.13:g.151372718C>T	(Likely) benign	1 lab	1a3b27876a
16:23641001 PALB2 C>G	16	23641001	23641001	C	G	PALB2	c.2474G>C	NM_024675.4	NP_078951.2:p.(Arg825Thr)	NC_000016.9:g.23641001C>G	(Likely) benign	1 lab	1a3f02e751
10:90988250 LIPA C>G	10	90988250	90988250	C	G	LIPA	c.230-95G>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90988250C>G	(Likely) benign	1 lab	1a43e64e35
1:3347514 PRDM16 G>C	1	3347514	3347514	G	C	PRDM16	c.3363G>C	NM_022114.4	NP_071397.3:p.(Glu1121Asp)	NC_000001.10:g.3347514G>C	VUS	1 lab	1a44fc8ec5
12:1586061 ERC1 Ref too long to show for this DEL>A	12	1586061	1595272	Ref too long to show for this DEL	A	ERC1	c.3214-13197_3214-3987del	NM_178040.4	NP_829884.1:p.?	NC_000012.11:g.1586062_1595272del	VUS	1 lab	1a4781f477
5:148366477 SH3TC2 G>A	5	148366477	148366477	G	A	SH3TC2	c.*17797C>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148366477G>A	(Likely) benign	1 lab	1a483c7be2
2:167060610 SCN9A C>T	2	167060610	167060610	C	T	SCN9A	c.4596G>A	NM_002977.3	NP_002968.1:p.(Met1532Ile)	NC_000002.11:g.167060610C>T	VUS	1 lab	1a4a4deddc
16:56997349 CETP C>CA	16	56997349	56997351	C	CA	CETP	c.233+315dup	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997351dup	(Likely) benign	1 lab	1a4bcb1665
1:215807890 USH2A C>A	1	215807890	215807890	C	A	USH2A	c.15208G>T	NM_206933.4	NP_996816.3:p.(Glu5070Ter)	NC_000001.10:g.215807890C>A	(Likely) pathogenic	1 lab	1a4e0206f0
17:58236715 CA4 C>T	17	58236715	58236715	C	T	CA4	c.869C>T	NM_000717.5	NP_000708.1:p.(Pro290Leu)	NC_000017.10:g.58236715C>T	(Likely) benign	1 lab	1a4e6c58cf
7:33146981 MISSING A>Alt too long to show for this DUP	7	33146981	33345159	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.33146985_33345159dup	VUS	1 lab	1a4e92621e
14:76431709 TGFB3 G>A	14	76431709	76431709	G	A	TGFB3	c.754+222C>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76431709G>A	(Likely) benign	1 lab	1a53144035
4:114274922 ANK2 G>A	4	114274922	114274922	G	A	ANK2	c.5148G>A	NM_001148.6	NP_001139.3:p.(Glu1716=)	NC_000004.11:g.114274922G>A	(Likely) benign	1 lab	1a5514511b
15:35083508 ACTC1 TCACACACACACACACACACA>T	15	35083508	35083554	TCACACACACACACACACACA	T	ACTC1	c.809-32_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083535_35083554del	(Likely) benign	1 lab	1a56f8f6c5
22:50662558 TUBGCP6 G>T	22	50662558	50662558	G	T	TUBGCP6	c.2270+12C>A	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50662558G>T	(Likely) benign	1 lab	1a5770a268
14:68156965 RDH11 T>C	14	68156965	68156965	T	C	RDH11	c.628A>G	NM_016026.4	NP_057110.3:p.(Ile210Val)	NC_000014.8:g.68156965T>C	(Likely) benign	1 lab	1a579e64e0
10:89720883 PTEN A>T	10	89720883	89720883	A	T	PTEN	c.1026+8A>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720883A>T	(Likely) benign	1 lab	1a5907b3b9
15:58830712 LIPC G>T	15	58830712	58830712	G	T	LIPC	c.269G>T	NM_000236.3	NP_000227.2:p.(Trp90Leu)	NC_000015.9:g.58830712G>T	VUS	1 lab	1a59f5b099
17:39912045 JUP C>T	17	39912045	39912045	C	T	JUP	c.2189G>A	NM_002230.4	NP_002221.1:p.(Ser730Asn)	NC_000017.10:g.39912045C>T	VUS	1 lab	1a5e86599d
9:107557969 ABCA1 T>C	9	107557969	107557969	T	C	ABCA1	c.5382+365A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107557969T>C	VUS	1 lab	1a5edd94d5
16:68714854 CDH3 C>T	16	68714854	68714854	C	T	CDH3	c.868-17C>T	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68714854C>T	(Likely) benign	1 lab	1a5faf17a7
11:30900263 DCDC1 TA>T	11	30900263	30900279	TA	T	DCDC1	c.2546-6del	NM_020869.4	NP_065920.2:p.?	NC_000011.9:g.30900279del	(Likely) benign	1 lab	1a601ea5cc
20:49520476 ADNP TCA>T	20	49520476	49520480	TCA	T	ADNP	c.56_57del	NM_001282531.3	NP_001269460.1:p.(Val19GlufsTer5)	NC_000020.10:g.49520479_49520480del	(Likely) pathogenic	1 lab	1a610b966a
17:60088512 MED13 GCTTAGGAAGTATTT>G	17	60088512	60088526	GCTTAGGAAGTATTT	G	MED13	c.1352_1365del	NM_005121.3	NP_005112.2:p.(Gln451ProfsTer5)	NC_000017.10:g.60088513_60088526del	(Likely) pathogenic	1 lab	1a6486dfa0
1:16259373 SPEN CAG>C	1	16259373	16259377	CAG	C	SPEN	c.6641_6642del	NM_015001.3	NP_055816.2:p.(Glu2214AlafsTer11)	NC_000001.10:g.16259376_16259377del	(Likely) pathogenic	1 lab	1a67598b4d
16:50826565 CYLD A>T	16	50826565	50826565	A	T	CYLD	c.2299A>T	NM_015247.3	NP_056062.1:p.(Lys767Ter)	NC_000016.9:g.50826565A>T	(Likely) pathogenic	1 lab	1a67e131ed
16:81388361 GAN G>T	16	81388361	81388361	G	T	GAN	c.633+1G>T	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81388361G>T	(Likely) pathogenic	1 lab	1a68d278fd
17:58232728 CA4 G>A	17	58232728	58232728	G	A	CA4	c.112G>A	NM_000717.5	NP_000708.1:p.(Val38Met)	NC_000017.10:g.58232728G>A	VUS	1 lab	1a6b30a8e6
7:128496975 FLNC G>A	7	128496975	128496975	G	A	FLNC	c.7561G>A	NM_001458.5	NP_001449.3:p.(Gly2521Ser)	NC_000007.13:g.128496975G>A	VUS	1 lab	1a6beec914
14:23896490 MYH7 T>C	14	23896490	23896490	T	C	MYH7	c.1915A>G	NM_000257.4	NP_000248.2:p.(Lys639Glu)	NC_000014.8:g.23896490T>C	(Likely) pathogenic	1 lab	1a6cc5608e
2:179419673 TTN G>A	2	179419673	179419673	G	A	TTN	c.88513C>T	NM_001267550.2	NP_001254479.2:p.(Arg29505Cys)	NC_000002.11:g.179419673G>A	VUS	1 lab	1a6dd4ce45
7:138829228 IFT56 Ref too long to show for this DEL>T	7	138829228	138851428	Ref too long to show for this DEL	T	IFT56	c.399+2179_896-158del	NM_024926.4	NP_079202.2:p.?	NC_000007.13:g.138829230_138851428del	VUS	1 lab	1a6fd4ded3
22:29876806 NEFH A>C	22	29876806	29876806	A	C	NEFH	c.555A>C	NM_021076.4	NP_066554.2:p.(Leu185=)	NC_000022.10:g.29876806A>C	(Likely) benign	1 lab	1a70efbf14
17:48272470 COL1A1 G>A	17	48272470	48272470	G	A	COL1A1	c.1300-9C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272470G>A	(Likely) benign	1 lab	1a721f1882
7:128477450 FLNC A>G	7	128477450	128477450	A	G	FLNC	c.700-2A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477450A>G	(Likely) pathogenic	1 lab	1a7689da88
18:25756944 CDH2 G>A	18	25756944	25756944	G	A	CDH2	c.43C>T	NM_001792.5	NP_001783.2:p.(Leu15=)	NC_000018.9:g.25756944G>A	(Likely) benign	1 lab	1a7d9dc177
6:149720307 TAB2 A>T	6	149720307	149720307	A	T	TAB2	c.1926A>T	NM_015093.6	NP_055908.1:p.(Pro642=)	NC_000006.11:g.149720307A>T	(Likely) benign	1 lab	1a8511e587
7:878547 SUN1 AC>A	7	878547	878550	AC	A	SUN1	c.193del	NM_001130965.3	NP_001124437.1:p.(Leu65TrpfsTer19)	NC_000007.13:g.878550del	VUS	1 lab	1a8ce77a8c
1:55529158 PCSK9 C>T	1	55529158	55529158	C	T	PCSK9	c.1980C>T	NM_174936.4	NP_777596.2:p.(Asp660=)	NC_000001.10:g.55529158C>T	(Likely) benign	1 lab	1a9426134e
1:16255236 SPEN A>G	1	16255236	16255236	A	G	SPEN	c.2501A>G	NM_015001.3	NP_055816.2:p.(Gln834Arg)	NC_000001.10:g.16255236A>G	VUS	1 lab	1a956a9c80
14:23893290 MYH7 C>T	14	23893290	23893290	C	T	MYH7	c.2748G>A	NM_000257.4	NP_000248.2:p.(Glu916=)	NC_000014.8:g.23893290C>T	VUS	1 lab	1a964af6ba
14:50088085 MGAT2 G>T	14	50088085	50088085	G	T	MGAT2	c.99G>T	NM_002408.4	NP_002399.1:p.(Lys33Asn)	NC_000014.8:g.50088085G>T	(Likely) benign	1 lab	1a9fa4193a
7:26237494 HNRNPA2B1 G>A	7	26237494	26237494	G	A	HNRNPA2B1	c.7-8C>T	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26237494G>A	(Likely) benign	1 lab	1a9fab9041
5:133948404 SAR1B A>AAAG	5	133948404	133948407	A	AAAG	SAR1B	c.218_220dup	NM_001033503.3	NP_001028675.1:p.(Thr73_Phe74insSer)	NC_000005.9:g.133948405_133948407dup	(Likely) pathogenic	1 lab	1aa4ab3b16
X:134247272 MISSING C>Alt too long to show for this DUP	X	134247272	134479605	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.134247275_134479605dup	VUS	1 lab	1aa4b5c6e9
2:179531963 TTN C>G	2	179531963	179531963	C	G	TTN	c.35797G>C	NM_001267550.2	NP_001254479.2:p.(Glu11933Gln)	NC_000002.11:g.179531963C>G	(Likely) benign	1 lab	1aa6406152
2:74789523 MISSING C>Alt too long to show for this DUP	2	74789523	75361499	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74789524_75361499dup	(Likely) pathogenic	1 lab	1aa91d5499
16:88499910 ZNF469 G>A	16	88499910	88499910	G	A	ZNF469	c.6032G>A	NM_001367624.2	NP_001354553.1:p.(Gly2011Asp)	NC_000016.9:g.88499910G>A	(Likely) benign	1 lab	1aab728fa2
14:23895027 MYH7 C>A	14	23895027	23895027	C	A	MYH7	c.2163G>T	NM_000257.4	NP_000248.2:p.(Arg721Ser)	NC_000014.8:g.23895027C>A	VUS	1 lab	1aac3f8c68
8:8126072 MISSING A>Alt too long to show for this DUP	8	8126072	8551418	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.8126073_8551418dup	VUS	1 lab	1aacabda97
19:11222316 LDLR G>T	19	11222316	11222316	G	T	LDLR	c.1186+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222316G>T	(Likely) pathogenic	1 lab	1aae543d87
9:139287120 SNAPC4 C>A	9	139287120	139287120	C	A	SNAPC4	c.737+5G>T	NM_003086.3	NP_003077.2:p.?	NC_000009.11:g.139287120C>A	(Likely) pathogenic	1 lab	1aaec4e552
2:179553459 TTN A>G	2	179553459	179553459	A	G	TTN	c.32142T>C	NM_001267550.2	NP_001254479.2:p.(Ala10714=)	NC_000002.11:g.179553459A>G	(Likely) benign	1 lab	1ab2ab73cf
15:48795859 FBN1 C>T	15	48795859	48795859	C	T	FBN1	c.2113+125G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48795859C>T	(Likely) benign	1 lab	1ab379a0ac
19:11226874 LDLR A>G	19	11226874	11226874	A	G	LDLR	c.1691A>G	NM_000527.5	NP_000518.1:p.(Asn564Ser)	NC_000019.9:g.11226874A>G	(Likely) pathogenic	1 lab	1ab7bf1fcf
17:56437589 RNF43 G>T	17	56437589	56437589	G	T	RNF43	c.873C>A	NM_017763.6	NP_060233.3:p.(Leu291=)	NC_000017.10:g.56437589G>T	(Likely) benign	1 lab	1ab7e61b7c
1:74509083 MISSING G>Alt too long to show for this DUP	1	74509083	74701920	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.74509084_74701920dup	VUS	1 lab	1abdc94773
21:45044448 MISSING C>Alt too long to show for this DUP	21	45044448	45842303	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.45044449_45842303dup	(Likely) pathogenic	1 lab	1ac3a0e2de
16:46781943 MYLK3 G>A	16	46781943	46781943	G	A	MYLK3	c.163C>T	NM_182493.3	NP_872299.2:p.(Arg55Ter)	NC_000016.9:g.46781943G>A	VUS	1 lab	1ac3d11186
4:48169414 TEC Ref too long to show for this DEL>C	4	48169414	48250310	Ref too long to show for this DEL	C	TEC	c.-45-19634_671+380del	NM_003215.3	NP_003206.2:p.?	NC_000004.11:g.48169415_48250310del	VUS	1 lab	1ac46f0934
15:48936944 FBN1 T>G	15	48936944	48936944	T	G	FBN1	c.23A>C	NM_000138.5	NP_000129.3:p.(Glu8Ala)	NC_000015.9:g.48936944T>G	VUS	1 lab	1ac77d54ce
2:179495962 TTN G>A	2	179495962	179495962	G	A	TTN	c.43813C>T	NM_001267550.2	NP_001254479.2:p.(Leu14605=)	NC_000002.11:g.179495962G>A	(Likely) benign	1 lab	1ac7a2d23f
12:115120729 TBX3 T>C	12	115120729	115120729	T	C	TBX3	c.277A>G	NM_016569.4	NP_057653.3:p.(Met93Val)	NC_000012.11:g.115120729T>C	VUS	1 lab	1ac94e342e
10:61835941 ANK3 G>A	10	61835941	61835941	G	A	ANK3	c.4698C>T	NM_020987.5	NP_066267.2:p.(Asp1566=)	NC_000010.10:g.61835941G>A	(Likely) benign	1 lab	1acdc29c76
3:123419526 MYLK T>G	3	123419526	123419526	T	G	MYLK	c.2789A>C	NM_053025.4	NP_444253.3:p.(Gln930Pro)	NC_000003.11:g.123419526T>G	VUS	1 lab	1ad0ce60c8
19:55316479 KIR2DL4 A>G	19	55316479	55316479	A	G	KIR2DL4	c.308A>G	NM_001080772.2	NP_001074241.1:p.(His103Arg)	NC_000019.9:g.55316479A>G	(Likely) benign	1 lab	1ad1dfd743
2:21233827 APOB C>T	2	21233827	21233827	C	T	APOB	c.5913G>A	NM_000384.3	NP_000375.3:p.(Leu1971=)	NC_000002.11:g.21233827C>T	(Likely) benign	1 lab	1ad8c6d2d8
11:121421341 SORL1 C>T	11	121421341	121421341	C	T	SORL1	c.2228C>T	NM_003105.6	NP_003096.2:p.(Ala743Val)	NC_000011.9:g.121421341C>T	(Likely) benign	1 lab	1ad926d07e
6:7574374 DSP T>G	6	7574374	7574374	T	G	DSP	c.2186T>G	NM_004415.4	NP_004406.2:p.(Met729Arg)	NC_000006.11:g.7574374T>G	VUS	1 lab	1aded7c616
11:108158448 ATM T>C	11	108158448	108158448	T	C	ATM	c.4109+6T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158448T>C	VUS	1 lab	1adeeba835
4:15982176 PROM1 C>T	4	15982176	15982176	C	T	PROM1	c.2347-16G>A	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15982176C>T	(Likely) benign	1 lab	1ae335e8db
19:11200476 LDLR G>T	19	11200476	11200476	G	T	LDLR	c.67+185G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200476G>T	(Likely) benign	1 lab	1ae33b3a5c
5:148422402 SH3TC2 T>G	5	148422402	148422402	T	G	SH3TC2	c.386-2A>C	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148422402T>G	(Likely) pathogenic	1 lab	1ae694c1cd
1:55518314 PCSK9 G>A	1	55518314	55518314	G	A	PCSK9	c.658-9G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518314G>A	(Likely) benign	1 lab	1ae7a1ee38
19:36398353 TYROBP G>A	19	36398353	36398353	G	A	TYROBP	c.224C>T	NM_003332.4	NP_003323.1:p.(Ala75Val)	NC_000019.9:g.36398353G>A	(Likely) benign	1 lab	1ae9212872
12:71523199 TSPAN8 TAA>T	12	71523199	71523211	TAA	T	TSPAN8	c.577-7_577-6del	NM_004616.3	NP_004607.1:p.?	NC_000012.11:g.71523210_71523211del	(Likely) benign	1 lab	1ae963adfb
11:116706652 APOA1 T>C	11	116706652	116706652	T	C	APOA1	c.349A>G	NM_001318021.1	NP_001304950.1:p.(Thr117Ala)	NC_000011.9:g.116706652T>C	VUS	1 lab	1aeaac51a3
17:80816201 TBCD G>Alt too long to show for this DUP	17	80816201	80856694	G	Alt too long to show for this DUP	TBCD	c.1319-11898_1650-1833dup	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80816202_80856694dup	VUS	1 lab	1aebcbf470
15:45406854 DUOXA2 C>T	15	45406854	45406854	C	T	DUOXA2	c.51C>T	NM_207581.4	NP_997464.2:p.(Ala17=)	NC_000015.9:g.45406854C>T	(Likely) benign	1 lab	1aecca56e1
9:16645241 BNC2 Ref too long to show for this DEL>T	9	16645241	16661894	Ref too long to show for this DEL	T	BNC2	c.330+65901_331-62159del	NM_017637.6	NP_060107.3:p.?	NC_000009.11:g.16645242_16661894del	VUS	1 lab	1aed6ccaef
16:57993840 CNGB1 C>T	16	57993840	57993840	C	T	CNGB1	c.713G>A	NM_001297.5	NP_001288.3:p.(Gly238Asp)	NC_000016.9:g.57993840C>T	VUS	1 lab	1aefd742fe
6:53140998 ELOVL5 G>A	6	53140998	53140998	G	A	ELOVL5	c.303C>T	NM_001301856.2	NP_001288785.1:p.(Thr101=)	NC_000006.11:g.53140998G>A	(Likely) benign	1 lab	1af0c125de
8:133975326 TG A>C	8	133975326	133975326	A	C	TG	c.5548+7A>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133975326A>C	(Likely) benign	1 lab	1af1a2e7f9
10:90974652 LIPA A>G	10	90974652	90974652	A	G	LIPA	c.1133T>C	NM_000235.4	NP_000226.2:p.(Ile378Thr)	NC_000010.10:g.90974652A>G	VUS	1 lab	1af1fccd5e
16:1003985 LMF1 A>ACACC	16	1003985	1003990	A	ACACC	LMF1	c.503+368_503+371dup	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003987_1003990dup	(Likely) benign	1 lab	1af2eeb3b3
2:189861962 COL3A1 A>G	2	189861962	189861962	A	G	COL3A1	c.1815+18A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861962A>G	(Likely) benign	1 lab	1af78984fd
19:11216259 LDLR C>CT	19	11216259	11216260	C	CT	LDLR	c.678dup	NM_000527.5	NP_000518.1:p.(Asp227Ter)	NC_000019.9:g.11216260dup	(Likely) pathogenic	1 lab	1af7ac674c
9:107599823 ABCA1 C>T	9	107599823	107599823	C	T	ABCA1	c.1080G>A	NM_005502.4	NP_005493.2:p.(Lys360=)	NC_000009.11:g.107599823C>T	(Likely) benign	1 lab	1afb7f11a6
15:48718025 FBN1 C>T	15	48718025	48718025	C	T	FBN1	c.7241G>A	NM_000138.5	NP_000129.3:p.(Arg2414Gln)	NC_000015.9:g.48718025C>T	VUS	1 lab	1b03b3edab
X:9714119 GPR143 G>A	X	9714119	9714119	G	A	GPR143	c.623C>T	NM_000273.3	NP_000264.2:p.(Ala208Val)	NC_000023.10:g.9714119G>A	(Likely) benign	1 lab	1b0c0957aa
22:50898034 SBF1 G>A	22	50898034	50898034	G	A	SBF1	c.3553C>T	NM_002972.4	NP_002963.2:p.(Arg1185Cys)	NC_000022.10:g.50898034G>A	VUS	1 lab	1b0d0eb853
6:162363663 PRKN Ref too long to show for this DEL>T	6	162363663	162471125	Ref too long to show for this DEL	T	PRKN	c.618+3998_734+30670del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162363664_162471125del	VUS	1 lab	1b0da24db1
2:20596760 MISSING G>Alt too long to show for this DUP	2	20596760	20854285	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.20596761_20854285dup	VUS	1 lab	1b0fcd3a7e
1:236922813 ACTN2 C>G	1	236922813	236922813	C	G	ACTN2	c.2302-211C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922813C>G	(Likely) benign	1 lab	1b10924ec5
2:179478682 TTN G>T	2	179478682	179478682	G	T	TTN	c.49346-18C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179478682G>T	(Likely) benign	1 lab	1b112bb6a9
5:179260777 SQSTM1 C>T	5	179260777	179260777	C	T	SQSTM1	c.1160C>T	NM_003900.5	NP_003891.1:p.(Pro387Leu)	NC_000005.9:g.179260777C>T	VUS	1 lab	1b113c4497
17:33903032 PEX12 T>C	17	33903032	33903032	T	C	PEX12	c.849A>G	NM_000286.3	NP_000277.1:p.(Pro283=)	NC_000017.10:g.33903032T>C	(Likely) benign	1 lab	1b14d16205
9:32987647 APTX C>T	9	32987647	32987647	C	T	APTX	c.378G>A	NM_001195249.2	NP_001182178.1:p.(Arg126=)	NC_000009.11:g.32987647C>T	(Likely) benign	1 lab	1b196f73a6
1:235599875 TBCE G>C	1	235599875	235599875	G	C	TBCE	c.1068G>C	NM_001287801.2	NP_001274730.1:p.(Met356Ile)	NC_000001.10:g.235599875G>C	VUS	1 lab	1b1cb68f3a
1:237754040 RYR2 G>A	1	237754040	237754040	G	A	RYR2	c.3908G>A	NM_001035.3	NP_001026.2:p.(Arg1303His)	NC_000001.10:g.237754040G>A	VUS	1 lab	1b1cc7535c
3:175076539 MISSING Ref too long to show for this DEL>A	3	175076539	175746739	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.175076540_175746739del	VUS	1 lab	1b1cc7d924
2:179393482 TTN G>C	2	179393482	179393482	G	C	TTN	c.106996C>G	NM_001267550.2	NP_001254479.2:p.(Gln35666Glu)	NC_000002.11:g.179393482G>C	VUS	1 lab	1b2138dceb
11:65307116 LTBP3 T>G	11	65307116	65307116	T	G	LTBP3	c.3548-17A>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307116T>G	(Likely) benign	1 lab	1b21ad640d
16:88498105 ZNF469 G>A	16	88498105	88498105	G	A	ZNF469	c.4227G>A	NM_001367624.2	NP_001354553.1:p.(Pro1409=)	NC_000016.9:g.88498105G>A	(Likely) benign	1 lab	1b229abb26
17:75494780 SEPTIN9 A>T	17	75494780	75494780	A	T	SEPTIN9	c.*40A>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75494780A>T	(Likely) benign	1 lab	1b23ae3c8b
16:84193349 DNAAF1 C>T	16	84193349	84193349	C	T	DNAAF1	c.811C>T	NM_178452.6	NP_848547.4:p.(Arg271Ter)	NC_000016.9:g.84193349C>T	(Likely) pathogenic	1 lab	1b2491078c
11:116661668 APOA5 G>A	11	116661668	116661668	G	A	APOA5	c.277C>T	NM_052968.5	NP_443200.2:p.(Arg93Trp)	NC_000011.9:g.116661668G>A	(Likely) benign	1 lab	1b27014fc8
10:61833499 ANK3 G>A	10	61833499	61833499	G	A	ANK3	c.7140C>T	NM_020987.5	NP_066267.2:p.(His2380=)	NC_000010.10:g.61833499G>A	(Likely) benign	1 lab	1b270744f0
22:32188235 DEPDC5 Ref too long to show for this DEL>G	22	32188235	32219200	Ref too long to show for this DEL	G	DEPDC5	c.694+148_2104+424del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32188236_32219200del	(Likely) pathogenic	1 lab	1b2783195a
6:42156424 GUCA1B C>T	6	42156424	42156424	C	T	GUCA1B	c.253G>A	NM_002098.6	NP_002089.4:p.(Val85Met)	NC_000006.11:g.42156424C>T	(Likely) benign	1 lab	1b28b7f75d
2:21228172 APOB G>A	2	21228172	21228172	G	A	APOB	c.11568C>T	NM_000384.3	NP_000375.3:p.(Ile3856=)	NC_000002.11:g.21228172G>A	(Likely) benign	1 lab	1b2e5ff98d
13:32907408 BRCA2 C>T	13	32907408	32907408	C	T	BRCA2	c.1793C>T	NM_000059.4	NP_000050.3:p.(Thr598Ile)	NC_000013.10:g.32907408C>T	(Likely) benign	1 lab	1b30c88282
6:56374603 DST G>C	6	56374603	56374603	G	C	DST	c.12492C>G	NM_001144769.5	NP_001138241.1:p.(Pro4164=)	NC_000006.11:g.56374603G>C	(Likely) benign	1 lab	1b31019442
15:85399611 ALPK3 C>G	15	85399611	85399611	C	G	ALPK3	c.1654-12C>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85399611C>G	(Likely) benign	1 lab	1b39d293ba
1:25889614 LDLRAP1 C>A	1	25889614	25889614	C	A	LDLRAP1	c.586C>A	NM_015627.3	NP_056442.2:p.(Arg196Ser)	NC_000001.10:g.25889614C>A	VUS	1 lab	1b45942871
10:90695093 ACTA2 CAG>C	10	90695093	90695097	CAG	C	ACTA2	c.1019_1020del	NM_001141945.2	NP_001135417.1:p.(Ser340CysfsTer26)	NC_000010.10:g.90695096_90695097del	(Likely) pathogenic	1 lab	1b4791f0c8
14:74988687 LTBP2 G>A	14	74988687	74988687	G	A	LTBP2	c.2715C>T	NM_000428.3	NP_000419.1:p.(Arg905=)	NC_000014.8:g.74988687G>A	(Likely) benign	1 lab	1b47f5d4cd
9:117267007 WHRN G>A	9	117267007	117267007	G	A	WHRN	c.75C>T	NM_001173425.2	NP_001166896.1:p.(Gly25=)	NC_000009.11:g.117267007G>A	(Likely) benign	1 lab	1b48991fd3
18:45375015 SMAD2 C>T	18	45375015	45375015	C	T	SMAD2	c.828G>A	NM_001003652.4	NP_001003652.1:p.(Ser276=)	NC_000018.9:g.45375015C>T	(Likely) benign	1 lab	1b49d2e0e4
8:61693811 CHD7 GAAAAA>G	8	61693811	61693818	GAAAAA	G	CHD7	c.1921_1925del	NM_017780.4	NP_060250.2:p.(Lys641GlufsTer33)	NC_000008.10:g.61693814_61693818del	(Likely) pathogenic	1 lab	1b4a0c6be5
2:44071788 ABCG8 G>A	2	44071788	44071788	G	A	ABCG8	c.165+41G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071788G>A	(Likely) benign	1 lab	1b51da9731
15:48779939 FBN1 C>A	15	48779939	48779939	C	A	FBN1	c.3338-305G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779939C>A	(Likely) benign	1 lab	1b527a9741
20:19955605 RIN2 G>C	20	19955605	19955605	G	C	RIN2	c.1083G>C	NM_001242581.2	NP_001229510.1:p.(Pro361=)	NC_000020.10:g.19955605G>C	(Likely) benign	1 lab	1b55010eec
X:27441538 MISSING Ref too long to show for this DEL>T	X	27441538	27734721	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.27441545_27734721del	VUS	1 lab	1b591b11e4
12:124337733 DNAH10 T>C	12	124337733	124337733	T	C	DNAH10	c.5938-20T>C	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124337733T>C	(Likely) benign	1 lab	1b5ad4e30d
11:95621301 MTMR2 T>A	11	95621301	95621301	T	A	MTMR2	c.-227+19A>T	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95621301T>A	(Likely) benign	1 lab	1b5b92c326
2:179569239 TTN A>T	2	179569239	179569239	A	T	TTN	c.29960T>A	NM_001267550.2	NP_001254479.2:p.(Ile9987Asn)	NC_000002.11:g.179569239A>T	VUS	1 lab	1b5d482d69
15:48720598 FBN1 G>C	15	48720598	48720598	G	C	FBN1	c.6942C>G	NM_000138.5	NP_000129.3:p.(Tyr2314Ter)	NC_000015.9:g.48720598G>C	(Likely) pathogenic	1 lab	1b5fc5a76a
17:1564646 PRPF8 G>A	17	1564646	1564646	G	A	PRPF8	c.4257C>T	NM_006445.4	NP_006436.3:p.(Ile1419=)	NC_000017.10:g.1564646G>A	(Likely) benign	1 lab	1b61354d5f
5:77335050 AP3B1 G>T	5	77335050	77335050	G	T	AP3B1	c.2479C>A	NM_001271769.2	NP_001258698.1:p.(Arg827=)	NC_000005.9:g.77335050G>T	(Likely) benign	1 lab	1b675b14a2
9:32974570 APTX G>GAA	9	32974570	32974579	G	GAA	APTX	c.771-13_771-12dup	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32974578_32974579dup	(Likely) benign	1 lab	1b6abce3ad
10:69299324 CTNNA3 C>T	10	69299324	69299324	C	T	CTNNA3	c.396G>A	NM_013266.4	NP_037398.2:p.(Val132=)	NC_000010.10:g.69299324C>T	(Likely) benign	1 lab	1b6bc26fb2
2:179498717 TTN A>G	2	179498717	179498717	A	G	TTN	c.42509T>C	NM_001267550.2	NP_001254479.2:p.(Met14170Thr)	NC_000002.11:g.179498717A>G	VUS	1 lab	1b6ca5ef3b
2:220290393 DES C>T	2	220290393	220290393	C	T	DES	c.1297C>T	NM_001927.4	NP_001918.3:p.(Pro433Ser)	NC_000002.11:g.220290393C>T	VUS	1 lab	1b6f2b0b70
7:72718276 MISSING Ref too long to show for this DEL>G	7	72718276	74142192	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72718279_74142192del	(Likely) pathogenic	1 lab	1b748b1ab9
17:15134249 PMP22 C>T	17	15134249	15134249	C	T	PMP22	c.468G>A	NM_000304.4	NP_000295.1:p.(Leu156=)	NC_000017.10:g.15134249C>T	(Likely) benign	1 lab	1b759a074d
15:45398313 DUOX2 C>T	15	45398313	45398313	C	T	DUOX2	c.2148+10G>A	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45398313C>T	(Likely) benign	1 lab	1b75ae2db2
1:156104249 LMNA G>A	1	156104249	156104249	G	A	LMNA	c.569G>A	NM_170707.4	NP_733821.1:p.(Arg190Gln)	NC_000001.10:g.156104249G>A	(Likely) pathogenic	1 lab	1b7a1c80e6
12:125267306 SCARB1 C>T	12	125267306	125267306	C	T	SCARB1	c.1453G>A	NM_005505.5	NP_005496.4:p.(Glu485Lys)	NC_000012.11:g.125267306C>T	VUS	1 lab	1b7a36371f
4:122782759 BBS7 T>C	4	122782759	122782759	T	C	BBS7	c.241A>G	NM_176824.3	NP_789794.1:p.(Lys81Glu)	NC_000004.11:g.122782759T>C	VUS	1 lab	1b80982d2a
2:21249744 APOB G>A	2	21249744	21249744	G	A	APOB	c.2160C>T	NM_000384.3	NP_000375.3:p.(Tyr720=)	NC_000002.11:g.21249744G>A	(Likely) benign	1 lab	1b80f68ea3
6:112435335 LAMA4 G>A	6	112435335	112435335	G	A	LAMA4	c.5270C>T	NM_001105206.3	NP_001098676.2:p.(Pro1757Leu)	NC_000006.11:g.112435335G>A	(Likely) benign	1 lab	1b87c4845d
16:81390480 GAN C>T	16	81390480	81390480	C	T	GAN	c.724C>T	NM_022041.4	NP_071324.1:p.(Arg242Ter)	NC_000016.9:g.81390480C>T	(Likely) pathogenic	1 lab	1b88a4f4ec
16:56995957 CETP C>A	16	56995957	56995957	C	A	CETP	c.66C>A	NM_000078.3	NP_000069.2:p.(Thr22=)	NC_000016.9:g.56995957C>A	(Likely) benign	1 lab	1b8c2f8c92
11:9868587 SBF2 G>A	11	9868587	9868587	G	A	SBF2	c.2850C>T	NM_030962.4	NP_112224.1:p.(Ile950=)	NC_000011.9:g.9868587G>A	(Likely) benign	1 lab	1b8c4fca24
11:47372645 MYBPC3 G>T	11	47372645	47372645	G	T	MYBPC3	c.292+145C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372645G>T	(Likely) benign	1 lab	1b8fe565df
3:97487006 ARL6 C>G	3	97487006	97487006	C	G	ARL6	c.55C>G	NM_032146.5	NP_115522.1:p.(His19Asp)	NC_000003.11:g.97487006C>G	VUS	1 lab	1b91c00acd
22:51116998 SHANK3 C>T	22	51116998	51116998	C	T	SHANK3	c.565-15C>T	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51116998C>T	(Likely) benign	1 lab	1b93531100
20:42814948 JPH2 G>A	20	42814948	42814948	G	A	JPH2	c.379+19C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42814948G>A	(Likely) benign	1 lab	1b93d84813
X:70443688 GJB1 G>T	X	70443688	70443688	G	T	GJB1	c.131G>T	NM_000166.6	NP_000157.1:p.(Trp44Leu)	NC_000023.10:g.70443688G>T	(Likely) pathogenic	1 lab	1b95cad38f
2:44050888 ABCG5 G>A	2	44050888	44050888	G	A	ABCG5	c.1324+164C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44050888G>A	(Likely) benign	1 lab	1b96c908a5
4:102166031 PPP3CA T>Alt too long to show for this DUP	4	102166031	102191502	T	Alt too long to show for this DUP	PPP3CA	c.59-74229_59-48759dup	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102166032_102191502dup	VUS	1 lab	1b9777ca2d
7:101840479 CUX1 G>A	7	101840479	101840479	G	A	CUX1	c.1821G>A	NM_001202543.2	NP_001189472.1:p.(Trp607Ter)	NC_000007.13:g.101840479G>A	(Likely) pathogenic	1 lab	1b98b6b1ce
X:55479329 MAGEH1 G>Alt too long to show for this DUP	X	55479329	55479971	G	Alt too long to show for this DUP	MAGEH1	c.524_*504dup	NM_014061.5	NP_054780.2:p.(Val169ValfsTer?)	NC_000023.10:g.55479331_55479971dup	VUS	1 lab	1b9b89d4d0
2:21224591 APOB C>A	2	21224591	21224591	C	A	APOB	c.*11G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21224591C>A	(Likely) benign	1 lab	1b9c21f853
1:101690475 MISSING Ref too long to show for this DEL>C	1	101690475	101741453	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.101690476_101741453del	VUS	1 lab	1b9d5670f5
21:33040834 SOD1 A>G	21	33040834	33040834	A	G	SOD1	c.408A>G	NM_000454.5	NP_000445.1:p.(Thr136=)	NC_000021.8:g.33040834A>G	(Likely) benign	1 lab	1b9e29f8de
1:92754685 GLMN C>G	1	92754685	92754685	C	G	GLMN	c.418G>C	NM_053274.3	NP_444504.1:p.(Ala140Pro)	NC_000001.10:g.92754685C>G	VUS	1 lab	1b9ecc77f9
2:179432214 TTN A>G	2	179432214	179432214	A	G	TTN	c.78645T>C	NM_001267550.2	NP_001254479.2:p.(Ala26215=)	NC_000002.11:g.179432214A>G	(Likely) benign	1 lab	1b9f14c2b0
16:1003875 LMF1 ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC>A	16	1003875	1004060	ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	A	LMF1	c.-52+334_-52+481del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003913_1004060del	(Likely) benign	1 lab	1ba1737ca9
22:50895049 SBF1 C>T	22	50895049	50895049	C	T	SBF1	c.3958G>A	NM_002972.4	NP_002963.2:p.(Val1320Met)	NC_000022.10:g.50895049C>T	VUS	1 lab	1ba2505bef
12:122248582 SETD1B C>G	12	122248582	122248582	C	G	SETD1B	c.1731C>G	NM_001353345.2	NP_001340274.1:p.(Leu577=)	NC_000012.11:g.122248582C>G	(Likely) benign	1 lab	1ba262de5a
19:11238637 LDLR G>A	19	11238637	11238637	G	A	LDLR	c.2312-47G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238637G>A	(Likely) benign	1 lab	1ba392663f
X:84526664 ZNF711 T>C	X	84526664	84526664	T	C	ZNF711	c.2254T>C	NM_001330574.2	NP_001317503.1:p.(Cys752Arg)	NC_000023.10:g.84526664T>C	(Likely) pathogenic	1 lab	1ba4da2f3e
4:89912305 FAM13A G>GA	4	89912305	89912314	G	GA	FAM13A	c.428-5dup	NM_014883.4	NP_055698.2:p.?	NC_000004.11:g.89912314dup	(Likely) benign	1 lab	1ba4e7e564
X:53224445 KDM5C G>C	X	53224445	53224445	G	C	KDM5C	c.3268C>G	NM_004187.5	NP_004178.2:p.(Leu1090Val)	NC_000023.10:g.53224445G>C	VUS	1 lab	1ba665e54c
3:9798475 OGG1 G>A	3	9798475	9798475	G	A	OGG1	c.923G>A	NM_016821.3	NP_058214.1:p.(Gly308Glu)	NC_000003.11:g.9798475G>A	(Likely) benign	1 lab	1ba687ef21
6:70973017 COL9A1 A>AAAAAG	6	70973017	70973027	A	AAAAAG	COL9A1	c.1342-22_1342-18dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70973023_70973027dup	(Likely) benign	1 lab	1babf59368
9:34637529 SIGMAR1 C>T	9	34637529	34637529	C	T	SIGMAR1	c.151+15G>A	NM_005866.4	NP_005857.1:p.?	NC_000009.11:g.34637529C>T	(Likely) benign	1 lab	1bb176481a
2:233351080 ECEL1 C>T	2	233351080	233351080	C	T	ECEL1	c.284G>A	NM_004826.4	NP_004817.2:p.(Cys95Tyr)	NC_000002.11:g.233351080C>T	VUS	1 lab	1bb2e72e1a
19:11216248 LDLR C>A	19	11216248	11216248	C	A	LDLR	c.666C>A	NM_000527.5	NP_000518.1:p.(Cys222Ter)	NC_000019.9:g.11216248C>A	(Likely) pathogenic	1 lab	1bb542409c
16:983984 LMF1 A>G	16	983984	983984	A	G	LMF1	c.115+7T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.983984A>G	(Likely) benign	1 lab	1bb60150c8
2:21245791 APOB C>A	2	21245791	21245791	C	A	APOB	c.2728G>T	NM_000384.3	NP_000375.3:p.(Gly910Cys)	NC_000002.11:g.21245791C>A	VUS	1 lab	1bc3570e56
16:57918350 CNGB1 C>A	16	57918350	57918350	C	A	CNGB1	c.3474G>T	NM_001297.5	NP_001288.3:p.(Ser1158=)	NC_000016.9:g.57918350C>A	(Likely) benign	1 lab	1bc712548e
2:29419646 ALK T>C	2	29419646	29419646	T	C	ALK	c.4154A>G	NM_004304.5	NP_004295.2:p.(Tyr1385Cys)	NC_000002.11:g.29419646T>C	VUS	1 lab	1bc84a065f
9:139413097 NOTCH1 T>G	9	139413097	139413097	T	G	NOTCH1	c.1045A>C	NM_017617.5	NP_060087.3:p.(Thr349Pro)	NC_000009.11:g.139413097T>G	VUS	1 lab	1bc92d3b64
2:21252772 APOB G>A	2	21252772	21252772	G	A	APOB	c.1468C>T	NM_000384.3	NP_000375.3:p.(Arg490Trp)	NC_000002.11:g.21252772G>A	(Likely) pathogenic	1 lab	1bcf1d95ef
17:75487202 SEPTIN9 G>C	17	75487202	75487202	G	C	SEPTIN9	c.1326+261G>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75487202G>C	(Likely) benign	1 lab	1bcff7bb90
7:72718277 MISSING Ref too long to show for this DEL>C	7	72718277	74142190	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72718278_74142190del	(Likely) pathogenic	1 lab	1bd15592a8
3:148871413 HPS3 A>T	3	148871413	148871413	A	T	HPS3	c.1378A>T	NM_032383.5	NP_115759.2:p.(Arg460Ter)	NC_000003.11:g.148871413A>T	(Likely) pathogenic	1 lab	1bd22291b8
19:11211165 LDLR G>A	19	11211165	11211165	G	A	LDLR	c.190+144G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211165G>A	(Likely) benign	1 lab	1bd76d91bb
11:47361982 MYBPC3 G>A	11	47361982	47361982	G	A	MYBPC3	c.1927+572C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361982G>A	(Likely) benign	1 lab	1bd7b28d84
5:148442608 SH3TC2 C>T	5	148442608	148442608	C	T	SH3TC2	c.-23G>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148442608C>T	(Likely) benign	1 lab	1bd920b377
16:16315686 ABCC6 G>A	16	16315686	16315686	G	A	ABCC6	c.39C>T	NM_001171.6	NP_001162.5:p.(Val13=)	NC_000016.9:g.16315686G>A	(Likely) benign	1 lab	1bdc586f20
11:68704560 IGHMBP2 G>T	11	68704560	68704560	G	T	IGHMBP2	c.2611+1G>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68704560G>T	(Likely) pathogenic	1 lab	1bdcd7a1f1
16:67977904 LCAT G>T	16	67977904	67977904	G	T	LCAT	c.101C>A	NM_000229.2	NP_000220.1:p.(Pro34Gln)	NC_000016.9:g.67977904G>T	(Likely) pathogenic	1 lab	1be68608bb
19:53989906 ZNF813 T>C	19	53989906	53989906	T	C	ZNF813	c.36T>C	NM_001004301.4	NP_001004301.2:p.(Asp12=)	NC_000019.9:g.53989906T>C	(Likely) benign	1 lab	1bedb02844
19:11230915 LDLR G>C	19	11230915	11230915	G	C	LDLR	c.1987+6G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230915G>C	VUS	1 lab	1bf1cb6085
6:64483209 EYS G>Alt too long to show for this DUP	6	64483209	64506000	G	Alt too long to show for this DUP	EYS	c.7412-6883_7898+4689dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.64483210_64506000dup	VUS	1 lab	1bf71c2ec5
X:107978510 IRS4 C>G	X	107978510	107978510	C	G	IRS4	c.1065G>C	NM_003604.2	NP_003595.1:p.(Leu355=)	NC_000023.10:g.107978510C>G	(Likely) benign	1 lab	1bf9932d51
2:179585946 TTN A>G	2	179585946	179585946	A	G	TTN	c.22817-17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585946A>G	(Likely) benign	1 lab	1bfc3fedbb
2:179615187 TTN A>G	2	179615187	179615187	A	G	TTN	c.11940T>C	NM_133379.5	NP_596870.2:p.(Asn3980=)	NC_000002.11:g.179615187A>G	(Likely) benign	1 lab	1bffb67e23
16:46773981 MYLK3 C>G	16	46773981	46773981	C	G	MYLK3	c.556G>C	NM_182493.3	NP_872299.2:p.(Glu186Gln)	NC_000016.9:g.46773981C>G	VUS	1 lab	1c00b85f82
22:20780079 SCARF2 C>T	22	20780079	20780079	C	T	SCARF2	c.2199G>A	NM_153334.7	NP_699165.3:p.(Glu733=)	NC_000022.10:g.20780079C>T	(Likely) benign	1 lab	1c00d127b1
15:42145593 SPTBN5 C>T	15	42145593	42145593	C	T	SPTBN5	c.10033G>A	NM_016642.4	NP_057726.4:p.(Asp3345Asn)	NC_000015.9:g.42145593C>T	(Likely) benign	1 lab	1c023bb8b5
12:32955314 PKP2 C>T	12	32955314	32955314	C	T	PKP2	c.2167+23G>A	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32955314C>T	(Likely) benign	1 lab	1c0c38fb0e
18:34289216 FHOD3 G>A	18	34289216	34289216	G	A	FHOD3	c.1870G>A	NM_025135.5	NP_079411.2:p.(Ala624Thr)	NC_000018.9:g.34289216G>A	VUS	1 lab	1c0c94b5a9
14:76455211 IFT43 T>C	14	76455211	76455211	T	C	IFT43	c.55-17T>C	NM_001255995.3	NP_001242924.1:p.?	NC_000014.8:g.76455211T>C	(Likely) benign	1 lab	1c11fe1efe
16:56533830 BBS2 T>C	16	56533830	56533830	T	C	BBS2	c.1398-11A>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56533830T>C	(Likely) benign	1 lab	1c12548731
18:28669542 DSC2 C>T	18	28669542	28669542	C	T	DSC2	c.490G>A	NM_024422.6	NP_077740.1:p.(Ala164Thr)	NC_000018.9:g.28669542C>T	VUS	1 lab	1c15567f61
7:128479128 FLNC C>T	7	128479128	128479128	C	T	FLNC	c.1411+271C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128479128C>T	(Likely) benign	1 lab	1c16d7977c
7:72717572 MISSING Ref too long to show for this DEL>C	7	72717572	74133280	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72717573_74133280del	(Likely) pathogenic	1 lab	1c18902075
X:54496879 FGD1 A>G	X	54496879	54496879	A	G	FGD1	c.671T>C	NM_004463.3	NP_004454.2:p.(Ile224Thr)	NC_000023.10:g.54496879A>G	VUS	1 lab	21b6ad93b4
17:48653295 CACNA1G C>T	17	48653295	48653295	C	T	CACNA1G	c.1532C>T	NM_198377.3	NP_938191.2:p.(Thr511Met)	NC_000017.10:g.48653295C>T	VUS	1 lab	1c1f99b457
11:47356918 MYBPC3 T>A	11	47356918	47356918	T	A	MYBPC3	c.2738-158A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356918T>A	(Likely) benign	1 lab	1c21f56550
22:51135967 SHANK3 GCTGTATTCGAATT>G	22	51135967	51135981	GCTGTATTCGAATT	G	SHANK3	c.1567-16_1567-4del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135969_51135981del	(Likely) benign	1 lab	1c2318f593
2:179477875 TTN A>T	2	179477875	179477875	A	T	TTN	c.49648+13T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179477875A>T	(Likely) benign	1 lab	1c27be6c8e
15:34546704 SLC12A6 G>A	15	34546704	34546704	G	A	SLC12A6	c.936C>T	NM_001042496.2	NP_001035961.1:p.(Tyr312=)	NC_000015.9:g.34546704G>A	(Likely) benign	1 lab	1c29e044d2
2:220283613 DES C>G	2	220283613	220283613	C	G	DES	c.429C>G	NM_001927.4	NP_001918.3:p.(Leu143=)	NC_000002.11:g.220283613C>G	(Likely) benign	1 lab	1c29e50194
19:11216882 LDLR G>A	19	11216882	11216882	G	A	LDLR	c.695-359G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216882G>A	(Likely) benign	1 lab	1c2bc4fa52
3:53684953 CACNA1D T>A	3	53684953	53684953	T	A	CACNA1D	c.623+8T>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53684953T>A	(Likely) benign	1 lab	1c2d82395b
17:1554421 PRPF8 C>T	17	1554421	1554421	C	T	PRPF8	c.6834G>A	NM_006445.4	NP_006436.3:p.(Ser2278=)	NC_000017.10:g.1554421C>T	(Likely) benign	1 lab	1c2ee760b5
19:11215934 LDLR G>T	19	11215934	11215934	G	T	LDLR	c.352G>T	NM_000527.5	NP_000518.1:p.(Asp118Tyr)	NC_000019.9:g.11215934G>T	(Likely) pathogenic	1 lab	1c309906ce
2:189869003 COL3A1 G>A	2	189869003	189869003	G	A	COL3A1	c.2844G>A	NM_000090.4	NP_000081.2:p.(Gly948=)	NC_000002.11:g.189869003G>A	(Likely) benign	1 lab	1c3219cc6a
12:21370144 SLCO1B1 G>T	12	21370144	21370144	G	T	SLCO1B1	c.1589G>T	NM_006446.5	NP_006437.3:p.(Cys530Phe)	NC_000012.11:g.21370144G>T	(Likely) pathogenic	1 lab	1c37653584
22:38369628 SOX10 GAA>G	22	38369628	38369630	GAA	G	SOX10	c.1273_1274del	NM_006941.4	NP_008872.1:p.(Phe425LeufsTer16)	NC_000022.10:g.38369629_38369630del	VUS	1 lab	1c385733f6
19:11202194 LDLR GC>G	19	11202194	11202198	GC	G	LDLR	c.67+1907del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202198del	(Likely) benign	1 lab	1c39267bae
7:26237229 HNRNPA2B1 G>A	7	26237229	26237229	G	A	HNRNPA2B1	c.153+13C>T	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26237229G>A	(Likely) benign	1 lab	1c3ca63685
4:98357912 MISSING Ref too long to show for this DEL>T	4	98357912	98612116	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.98357914_98612116del	VUS	1 lab	1c3dd3db87
9:139391267 NOTCH1 G>A	9	139391267	139391267	G	A	NOTCH1	c.6924C>T	NM_017617.5	NP_060087.3:p.(Cys2308=)	NC_000009.11:g.139391267G>A	VUS	1 lab	1c41a444cc
5:65058910 NLN T>C	5	65058910	65058910	T	C	NLN	c.425T>C	NM_020726.5	NP_065777.1:p.(Ile142Thr)	NC_000005.9:g.65058910T>C	(Likely) benign	1 lab	1c4285bc8d
15:73617684 HCN4 G>A	15	73617684	73617684	G	A	HCN4	c.1692C>T	NM_005477.3	NP_005468.1:p.(Phe564=)	NC_000015.9:g.73617684G>A	(Likely) benign	1 lab	1c43de52dc
2:179647000 TTN C>T	2	179647000	179647000	C	T	TTN	c.3319G>A	NM_001267550.2	NP_001254479.2:p.(Gly1107Ser)	NC_000002.11:g.179647000C>T	VUS	1 lab	1c47db2d04
16:28877711 SH2B1 C>T	16	28877711	28877711	C	T	SH2B1	c.296C>T	NM_015503.3	NP_056318.2:p.(Ala99Val)	NC_000016.9:g.28877711C>T	(Likely) benign	1 lab	1c486e1b48
14:105237164 AKT1 G>A	14	105237164	105237164	G	A	AKT1	c.1281C>T	NM_005163.2	NP_005154.2:p.(Pro427=)	NC_000014.8:g.105237164G>A	(Likely) benign	1 lab	1c489c1153
2:112725696 MERTK G>GTGTGTA	2	112725696	112725700	G	GTGTGTA	MERTK	c.845-15_845-14insGTATGT	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112725699_112725700insGTATGT	(Likely) benign	1 lab	1c4c703496
11:5247547 HBB T>TA	11	5247547	5247548	T	TA	HBB	c.315+259dup	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247548dup	(Likely) pathogenic	1 lab	1c4c931fc4
8:61693567 CHD7 G>C	8	61693567	61693567	G	C	CHD7	c.1674G>C	NM_017780.4	NP_060250.2:p.(Pro558=)	NC_000008.10:g.61693567G>C	(Likely) benign	1 lab	1c4d9a98bb
10:112581138 RBM20 A>G	10	112581138	112581138	A	G	RBM20	c.2761A>G	NM_001134363.3	NP_001127835.2:p.(Ile921Val)	NC_000010.10:g.112581138A>G	VUS	1 lab	1c4dff3029
4:114257082 ANK2 G>A	4	114257082	114257082	G	A	ANK2	c.3460G>A	NM_001148.6	NP_001139.3:p.(Val1154Met)	NC_000004.11:g.114257082G>A	VUS	1 lab	1c4e9bbdb6
20:61494457 MISSING G>Alt too long to show for this DUP	20	61494457	62352119	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.61494458_62352119dup	VUS	1 lab	1c4f0e2aee
2:238277317 COL6A3 G>A	2	238277317	238277317	G	A	COL6A3	c.4789C>T	NM_004369.4	NP_004360.2:p.(Arg1597Ter)	NC_000002.11:g.238277317G>A	(Likely) pathogenic	1 lab	1c51e291e7
20:42788373 JPH2 G>A	20	42788373	42788373	G	A	JPH2	c.1054C>T	NM_020433.5	NP_065166.2:p.(Arg352Cys)	NC_000020.10:g.42788373G>A	VUS	1 lab	1c55c4afe2
X:129290418 AIFM1 G>A	X	129290418	129290418	G	A	AIFM1	c.249+17C>T	NM_001130847.4	NP_001124319.1:p.?	NC_000023.10:g.129290418G>A	(Likely) benign	1 lab	1c59c35301
3:193361856 OPA1 G>A	3	193361856	193361856	G	A	OPA1	c.1570G>A	NM_130837.3	NP_570850.2:p.(Val524Ile)	NC_000003.11:g.193361856G>A	VUS	1 lab	1c5bd51838
3:38607853 SCN5A C>T	3	38607853	38607853	C	T	SCN5A	c.3840+47G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38607853C>T	(Likely) benign	1 lab	1c6a0c89d3
17:46805626 HOXB13 G>T	17	46805626	46805626	G	T	HOXB13	c.330C>A	NM_006361.6	NP_006352.2:p.(Pro110=)	NC_000017.10:g.46805626G>T	(Likely) benign	1 lab	1c6ac12f20
1:236918731 ACTN2 T>G	1	236918731	236918731	T	G	ACTN2	c.2154+233T>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236918731T>G	VUS	1 lab	1c6e072088
5:10260920 CCT5 C>T	5	10260920	10260920	C	T	CCT5	c.725C>T	NM_001306154.2	NP_001293083.1:p.(Ala242Val)	NC_000005.9:g.10260920C>T	VUS	1 lab	1c6e4fbf5f
2:74404651 MISSING A>Alt too long to show for this DUP	2	74404651	74454565	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74404652_74454565dup	VUS	1 lab	1c6ee8fb2d
13:103498672 ERCC5 C>T	13	103498672	103498672	C	T	ERCC5	c.56C>T	NM_000123.4	NP_000114.3:p.(Pro19Leu)	NC_000013.10:g.103498672C>T	VUS	1 lab	1c6fa8fd76
17:15134248 PMP22 G>C	17	15134248	15134248	G	C	PMP22	c.469C>G	NM_000304.4	NP_000295.1:p.(Arg157Gly)	NC_000017.10:g.15134248G>C	(Likely) pathogenic	1 lab	1c6faebbb9
13:94965207 GPC6 G>Alt too long to show for this DUP	13	94965207	95030943	G	Alt too long to show for this DUP	GPC6	c.1152+6831_1153-3725dup	NM_005708.5	NP_005699.1:p.?	NC_000013.10:g.94965208_95030943dup	VUS	1 lab	1c70cbdfd0
2:170019121 LRP2 A>C	2	170019121	170019121	A	C	LRP2	c.11759-11T>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170019121A>C	(Likely) benign	1 lab	1c7337097e
9:107599692 ABCA1 G>C	9	107599692	107599692	G	C	ABCA1	c.1194+17C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599692G>C	(Likely) benign	1 lab	1c752893a6
11:116707074 APOA1 C>G	11	116707074	116707074	C	G	APOA1	c.254G>C	NM_001318017.2	NP_001304946.1:p.(Arg85Pro)	NC_000011.9:g.116707074C>G	VUS	1 lab	1c753d965f
2:96963111 SNRNP200 C>G	2	96963111	96963111	C	G	SNRNP200	c.1367G>C	NM_014014.5	NP_054733.2:p.(Gly456Ala)	NC_000002.11:g.96963111C>G	VUS	1 lab	1c76260319
2:179569522 TTN T>C	2	179569522	179569522	T	C	TTN	c.29695-18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179569522T>C	(Likely) benign	1 lab	1c780f601d
15:85381999 ALPK3 C>A	15	85381999	85381999	C	A	ALPK3	c.305-212C>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85381999C>A	(Likely) benign	1 lab	1c78b65038
19:11222548 LDLR C>T	19	11222548	11222548	C	T	LDLR	c.1186+233C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222548C>T	(Likely) benign	1 lab	1c7a728f37
5:57989563 RAB3C Ref too long to show for this DEL>A	5	57989563	58069943	Ref too long to show for this DEL	A	RAB3C	c.253-32265_371+47996del	NM_138453.4	NP_612462.1:p.?	NC_000005.9:g.57989564_58069943del	VUS	1 lab	1c7ab36435
4:107114853 TBCK T>TA	4	107114853	107114854	T	TA	TBCK	c.1455dup	NM_001290768.2	NP_001277697.2:p.(Ile486TyrfsTer16)	NC_000004.11:g.107114854dup	(Likely) pathogenic	1 lab	1c80c4b9f8
2:25053617 ADCY3 G>T	2	25053617	25053617	G	T	ADCY3	c.2133C>A	NM_001320613.2	NP_001307542.1:p.(Leu711=)	NC_000002.11:g.25053617G>T	(Likely) benign	1 lab	1c80d34cae
1:12066648 MFN2 A>G	1	12066648	12066648	A	G	MFN2	c.1770A>G	NM_014874.4	NP_055689.1:p.(Pro590=)	NC_000001.10:g.12066648A>G	(Likely) benign	1 lab	1c811610cd
6:112506537 LAMA4 C>T	6	112506537	112506537	C	T	LAMA4	c.958G>A	NM_002290.5	NP_002281.3:p.(Glu320Lys)	NC_000006.11:g.112506537C>T	VUS	1 lab	1c882c8fa0
2:21224973 APOB CA>C	2	21224973	21224975	CA	C	APOB	c.13320del	NM_000384.3	NP_000375.3:p.(Glu4441SerfsTer36)	NC_000002.11:g.21224975del	(Likely) pathogenic	1 lab	1c8b536f01
15:89758360 RLBP1 G>A	15	89758360	89758360	G	A	RLBP1	c.456C>T	NM_000326.5	NP_000317.1:p.(Asp152=)	NC_000015.9:g.89758360G>A	(Likely) benign	1 lab	1c8ee6c4d1
20:22563571 FOXA2 G>A	20	22563571	22563571	G	A	FOXA2	c.291C>T	NM_153675.3	NP_710141.1:p.(Ala97=)	NC_000020.10:g.22563571G>A	(Likely) benign	1 lab	1c8eef6c1c
13:20763759 GJB2 C>G	13	20763759	20763759	C	G	GJB2	c.-22-17G>C	NM_004004.6	NP_003995.2:p.?	NC_000013.10:g.20763759C>G	(Likely) benign	1 lab	1c8f34b5f2
20:57097542 MISSING C>Alt too long to show for this DUP	20	57097542	57230453	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.57097543_57230453dup	(Likely) pathogenic	1 lab	1c8ff68136
16:942204 LMF1 A>G	16	942204	942204	A	G	LMF1	c.330+803T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942204A>G	(Likely) benign	1 lab	1c903be3d7
2:219677023 CYP27A1 G>A	2	219677023	219677023	G	A	CYP27A1	c.525G>A	NM_000784.4	NP_000775.1:p.(Thr175=)	NC_000002.11:g.219677023G>A	(Likely) benign	1 lab	1c903dd551
10:48383851 RBP3 C>T	10	48383851	48383851	C	T	RBP3	c.3381G>A	NM_002900.3	NP_002891.1:p.(Gln1127=)	NC_000010.10:g.48383851C>T	(Likely) benign	1 lab	1c90c66a63
X:153296225 MECP2 TGGGGC>T	X	153296225	153296230	TGGGGC	T	MECP2	c.1049_1053del	NM_004992.4	NP_004983.1:p.(Ser350LysfsTer41)	NC_000023.10:g.153296226_153296230del	(Likely) pathogenic	1 lab	1c92ecaaec
14:68282534 ZFYVE26 C>T	14	68282534	68282534	C	T	ZFYVE26	c.147G>A	NM_015346.4	NP_056161.2:p.(Arg49=)	NC_000014.8:g.68282534C>T	(Likely) benign	1 lab	1c94b9daa6
16:929543 LMF1 G>A	16	929543	929543	G	A	LMF1	c.897+27C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929543G>A	(Likely) benign	1 lab	1c94dd73c6
16:46764593 MYLK3 G>A	16	46764593	46764593	G	A	MYLK3	c.1480C>T	NM_182493.3	NP_872299.2:p.(Pro494Ser)	NC_000016.9:g.46764593G>A	VUS	1 lab	1d126ad8ca
2:179428277 TTN G>A	2	179428277	179428277	G	A	TTN	c.82582C>T	NM_001267550.2	NP_001254479.2:p.(Arg27528Trp)	NC_000002.11:g.179428277G>A	VUS	1 lab	1c995b0163
19:7506632 ARHGEF18 C>T	19	7506632	7506632	C	T	ARHGEF18	c.1200C>T	NM_001367823.1	NP_001354752.1:p.(Thr400=)	NC_000019.9:g.7506632C>T	(Likely) benign	1 lab	1c9d6b01c0
2:95945632 PROM2 C>T	2	95945632	95945632	C	T	PROM2	c.1314C>T	NM_001165978.3	NP_001159450.1:p.(Phe438=)	NC_000002.11:g.95945632C>T	(Likely) benign	1 lab	1c9f06715f
11:108385450 EXPH5 G>GT	11	108385450	108385456	G	GT	EXPH5	c.783dup	NM_015065.3	NP_055880.2:p.(His262ThrfsTer3)	NC_000011.9:g.108385456dup	(Likely) pathogenic	1 lab	1c9f2a4c19
2:189856375 COL3A1 A>G	2	189856375	189856375	A	G	COL3A1	c.898-20A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856375A>G	(Likely) benign	1 lab	1ca34f7cc1
3:100948290 IMPG2 G>C	3	100948290	100948290	G	C	IMPG2	c.3567C>G	NM_016247.4	NP_057331.2:p.(Asp1189Glu)	NC_000003.11:g.100948290G>C	VUS	1 lab	1ca4edf65e
8:110099846 TRHR T>C	8	110099846	110099846	T	C	TRHR	c.105T>C	NM_003301.7	NP_003292.1:p.(Ile35=)	NC_000008.10:g.110099846T>C	(Likely) benign	1 lab	1cc4c4efdb
15:72963968 MISSING Ref too long to show for this DEL>G	15	72963968	75501870	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.72963970_75501870del	(Likely) pathogenic	1 lab	1ca9147154
9:107589393 ABCA1 A>T	9	107589393	107589393	A	T	ABCA1	c.2173T>A	NM_005502.4	NP_005493.2:p.(Phe725Ile)	NC_000009.11:g.107589393A>T	VUS	1 lab	1cab95d3cd
1:173921171 RC3H1 C>T	1	173921171	173921171	C	T	RC3H1	c.2476G>A	NM_001300850.1	NP_001287779.1:p.(Asp826Asn)	NC_000001.10:g.173921171C>T	VUS	1 lab	1cae18830b
9:107578608 ABCA1 T>C	9	107578608	107578608	T	C	ABCA1	c.3554A>G	NM_005502.4	NP_005493.2:p.(Asn1185Ser)	NC_000009.11:g.107578608T>C	(Likely) benign	1 lab	1cb54999e0
8:134030167 TG C>T	8	134030167	134030167	C	T	TG	c.6707C>T	NM_003235.5	NP_003226.4:p.(Pro2236Leu)	NC_000008.10:g.134030167C>T	VUS	1 lab	1cb9507e6f
1:6529188 PLEKHG5 C>T	1	6529188	6529188	C	T	PLEKHG5	c.2163G>A	NM_198681.4	NP_941374.3:p.(Glu721=)	NC_000001.10:g.6529188C>T	(Likely) benign	1 lab	1cbc030353
16:68842438 CDH1 G>A	16	68842438	68842438	G	A	CDH1	c.499G>A	NM_004360.5	NP_004351.1:p.(Glu167Lys)	NC_000016.9:g.68842438G>A	(Likely) benign	1 lab	1cbf634acd
17:10533509 MYH3 C>T	17	10533509	10533509	C	T	MYH3	c.5462G>A	NM_002470.4	NP_002461.2:p.(Arg1821Gln)	NC_000017.10:g.10533509C>T	VUS	1 lab	1cc37efddf
3:122088946 MISSING Ref too long to show for this DEL>A	3	122088946	122102389	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.122088947_122102389del	VUS	1 lab	1cc7b14a9d
15:48720524 FBN1 C>A	15	48720524	48720524	C	A	FBN1	c.6997+19G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720524C>A	(Likely) benign	1 lab	1cc9ebed74
2:47389440 CALM2 G>C	2	47389440	47389440	G	C	CALM2	c.270C>G	NM_001743.6	NP_001734.1:p.(Phe90Leu)	NC_000002.11:g.47389440G>C	(Likely) pathogenic	1 lab	1ccae81401
10:69934310 MYPN A>G	10	69934310	69934310	A	G	MYPN	c.2461A>G	NM_032578.4	NP_115967.2:p.(Ser821Gly)	NC_000010.10:g.69934310A>G	VUS	1 lab	1ccf42c19f
2:238269784 COL6A3 G>A	2	238269784	238269784	G	A	COL6A3	c.6190C>T	NM_004369.4	NP_004360.2:p.(Pro2064Ser)	NC_000002.11:g.238269784G>A	VUS	1 lab	1ccfbbcdbc
15:48756475 FBN1 A>G	15	48756475	48756475	A	G	FBN1	c.4943-257T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756475A>G	(Likely) benign	1 lab	1cd02dbd86
17:13176355 MISSING C>Alt too long to show for this DUP	17	13176355	13638225	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.13176356_13638225dup	VUS	1 lab	1cd08042d3
10:73490271 C10orf105 A>G	10	73490271	73490271	A	G	C10orf105	c.-6+7214T>C	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73490271A>G	(Likely) benign	1 lab	1cd092b7e2
2:21229355 APOB T>C	2	21229355	21229355	T	C	APOB	c.10385A>G	NM_000384.3	NP_000375.3:p.(Tyr3462Cys)	NC_000002.11:g.21229355T>C	(Likely) benign	1 lab	1cd46044ef
3:14180791 TMEM43 A>G	3	14180791	14180791	A	G	TMEM43	c.994A>G	NM_024334.3	NP_077310.1:p.(Thr332Ala)	NC_000003.11:g.14180791A>G	VUS	1 lab	1cd6a459c8
11:116662386 APOA5 C>CCTTT	11	116662386	116662391	C	CCTTT	APOA5	c.73_76dup	NM_052968.5	NP_443200.2:p.(Gly26GlufsTer37)	NC_000011.9:g.116662388_116662391dup	(Likely) pathogenic	1 lab	1ce359a64d
1:21904108 ALPL G>T	1	21904108	21904108	G	T	ALPL	c.1542G>T	NM_000478.6	NP_000469.3:p.(Ala514=)	NC_000001.10:g.21904108G>T	(Likely) benign	1 lab	1ce3a9bcb9
18:21353602 LAMA3 C>T	18	21353602	21353602	C	T	LAMA3	c.1324C>T	NM_001302996.2	NP_001289925.1:p.(Arg442Ter)	NC_000018.9:g.21353602C>T	(Likely) benign	1 lab	1ce638e9c7
X:128954605 ZDHHC9 G>Alt too long to show for this DUP	X	128954605	128962300	G	Alt too long to show for this DUP	ZDHHC9	c.328+658_487+3049dup	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128954607_128962300dup	VUS	1 lab	1ce8622c42
3:37090116 MLH1 G>C	3	37090116	37090116	G	C	MLH1	c.1989+16G>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37090116G>C	(Likely) benign	1 lab	1ce879ee58
8:144297011 GPIHBP1 C>T	8	144297011	144297011	C	T	GPIHBP1	c.295+10C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297011C>T	(Likely) benign	1 lab	1cecbdd4ed
2:179569067 TTN G>A	2	179569067	179569067	G	A	TTN	c.30030C>T	NM_001267550.2	NP_001254479.2:p.(Cys10010=)	NC_000002.11:g.179569067G>A	(Likely) benign	1 lab	1cef7dea04
9:107556758 ABCA1 C>T	9	107556758	107556758	C	T	ABCA1	c.5416G>A	NM_005502.4	NP_005493.2:p.(Val1806Met)	NC_000009.11:g.107556758C>T	(Likely) benign	1 lab	1cf418fd61
16:2138534 TSC2 G>A	16	2138534	2138534	G	A	TSC2	c.5347G>A	NM_000548.5	NP_000539.2:p.(Glu1783Lys)	NC_000016.9:g.2138534G>A	(Likely) benign	1 lab	1cf4be7647
18:10681711 PIEZO2 C>T	18	10681711	10681711	C	T	PIEZO2	c.7387G>A	NM_022068.4	NP_071351.2:p.(Val2463Ile)	NC_000018.9:g.10681711C>T	(Likely) benign	1 lab	1cf7bc4c9f
19:11347493 DOCK6 T>C	19	11347493	11347493	T	C	DOCK6	c.2136A>G	NM_020812.4	NP_065863.2:p.(Thr712=)	NC_000019.9:g.11347493T>C	(Likely) benign	1 lab	1cfa489665
16:16248612 ABCC6 C>T	16	16248612	16248612	C	T	ABCC6	c.3739G>A	NM_001351800.1	NP_001338729.1:p.(Asp1247Asn)	NC_000016.9:g.16248612C>T	(Likely) pathogenic	1 lab	1cfa54d6c4
7:128496947 FLNC C>T	7	128496947	128496947	C	T	FLNC	c.7533C>T	NM_001458.5	NP_001449.3:p.(Tyr2511=)	NC_000007.13:g.128496947C>T	(Likely) benign	1 lab	1cfb91c06b
2:21236376 APOB T>C	2	21236376	21236376	T	C	APOB	c.3872A>G	NM_000384.3	NP_000375.3:p.(Lys1291Arg)	NC_000002.11:g.21236376T>C	VUS	1 lab	1cfce0c9e8
7:73442535 ELN GGCGGCCCC>G	7	73442535	73442550	GGCGGCCCC	G	ELN	c.26_33del	NM_000501.4	NP_000492.2:p.(Pro9ArgfsTer53)	NC_000007.13:g.73442543_73442550del	(Likely) pathogenic	1 lab	1d00518d54
18:25591837 CDH2 C>T	18	25591837	25591837	C	T	CDH2	c.519G>A	NM_001792.5	NP_001783.2:p.(Arg173=)	NC_000018.9:g.25591837C>T	(Likely) benign	1 lab	1d010f0687
15:73615570 HCN4 G>C	15	73615570	73615570	G	C	HCN4	c.2864C>G	NM_005477.3	NP_005468.1:p.(Pro955Arg)	NC_000015.9:g.73615570G>C	VUS	1 lab	1d014bd23c
2:21247929 APOB G>A	2	21247929	21247929	G	A	APOB	c.2312C>T	NM_000384.3	NP_000375.3:p.(Pro771Leu)	NC_000002.11:g.21247929G>A	VUS	1 lab	1d02da95a9
4:100522679 MTTP G>A	4	100522679	100522679	G	A	MTTP	c.1237-85G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522679G>A	(Likely) benign	1 lab	1d08fcfee9
7:138602864 KIAA1549 G>A	7	138602864	138602864	G	A	KIAA1549	c.1508C>T	NM_001164665.2	NP_001158137.1:p.(Thr503Met)	NC_000007.13:g.138602864G>A	(Likely) benign	1 lab	1d0a24616b
4:100510859 MTTP T>C	4	100510859	100510859	T	C	MTTP	c.453T>C	NM_000253.4	NP_000244.2:p.(Gly151=)	NC_000004.11:g.100510859T>C	(Likely) benign	1 lab	1d0c8f6209
2:179629312 TTN G>A	2	179629312	179629312	G	A	TTN	c.9930C>T	NM_001267550.2	NP_001254479.2:p.(Thr3310=)	NC_000002.11:g.179629312G>A	(Likely) benign	1 lab	1d11eb9b40
3:38888584 SCN11A G>A	3	38888584	38888584	G	A	SCN11A	c.4977C>T	NM_014139.3	NP_054858.2:p.(Val1659=)	NC_000003.11:g.38888584G>A	(Likely) benign	1 lab	1d1488d6d6
2:21234658 APOB A>G	2	21234658	21234658	A	G	APOB	c.5082T>C	NM_000384.3	NP_000375.3:p.(Asn1694=)	NC_000002.11:g.21234658A>G	(Likely) benign	1 lab	1d14da5363
2:179644786 TTN A>G	2	179644786	179644786	A	G	TTN	c.3670T>C	NM_001267550.2	NP_001254479.2:p.(Leu1224=)	NC_000002.11:g.179644786A>G	(Likely) benign	1 lab	1d19bf9732
9:135205764 SETX T>C	9	135205764	135205764	T	C	SETX	c.1221A>G	NM_015046.7	NP_055861.3:p.(Thr407=)	NC_000009.11:g.135205764T>C	(Likely) benign	1 lab	1d1b32fc2a
5:133942759 SAR1B A>G	5	133942759	133942759	A	G	SAR1B	c.481-3T>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133942759A>G	(Likely) benign	1 lab	1d1bc01fa5
18:47091722 LIPG G>A	18	47091722	47091722	G	A	LIPG	c.133G>A	NM_006033.4	NP_006024.1:p.(Val45Ile)	NC_000018.9:g.47091722G>A	(Likely) benign	1 lab	1d1be0e7ec
3:37695260 ITGA9 A>G	3	37695260	37695260	A	G	ITGA9	c.1895A>G	NM_002207.3	NP_002198.2:p.(Gln632Arg)	NC_000003.11:g.37695260A>G	(Likely) benign	1 lab	1d1d45dea4
1:68910310 RPE65 A>G	1	68910310	68910310	A	G	RPE65	c.399T>C	NM_000329.3	NP_000320.1:p.(Leu133=)	NC_000001.10:g.68910310A>G	(Likely) benign	1 lab	1d1d938ce7
11:47362174 MYBPC3 C>T	11	47362174	47362174	C	T	MYBPC3	c.1927+380G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362174C>T	(Likely) benign	1 lab	1d1d9a83df
15:63336288 TPM1 A>G	15	63336288	63336288	A	G	TPM1	c.177A>G	NM_001018004.2	NP_001018004.1:p.(Lys59=)	NC_000015.9:g.63336288A>G	(Likely) benign	1 lab	1d209a7fad
16:9101190 MISSING Ref too long to show for this DEL>T	16	9101190	9375857	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.9101192_9375857del	VUS	1 lab	1d21999a38
3:129155956 MBD4 G>T	3	129155956	129155956	G	T	MBD4	c.531C>A	NM_003925.3	NP_003916.1:p.(Asn177Lys)	NC_000003.11:g.129155956G>T	VUS	1 lab	1d21adb8cf
16:77387771 ADAMTS18 C>T	16	77387771	77387771	C	T	ADAMTS18	c.957G>A	NM_001326358.2	NP_001313287.1:p.(Ala319=)	NC_000016.9:g.77387771C>T	(Likely) benign	1 lab	1d23978808
12:32949084 PKP2 G>A	12	32949084	32949084	G	A	PKP2	c.2448C>T	NM_004572.4	NP_004563.2:p.(Thr816=)	NC_000012.11:g.32949084G>A	(Likely) benign	1 lab	1d25f89f14
2:200213776 SATB2 CTG>C	2	200213776	200213780	CTG	C	SATB2	c.819_820del	NM_001172509.2	NP_001165980.1:p.(His273GlnfsTer30)	NC_000002.11:g.200213779_200213780del	(Likely) pathogenic	1 lab	1d29e47c66
12:53887456 MISSING Ref too long to show for this DEL>A	12	53887456	53922629	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.53887457_53922629del	VUS	1 lab	1d2dc3bb2d
6:112451231 LAMA4 A>G	6	112451231	112451231	A	G	LAMA4	c.3980T>C	NM_001105206.3	NP_001098676.2:p.(Ile1327Thr)	NC_000006.11:g.112451231A>G	VUS	1 lab	1d2f198bf3
12:122257543 SETD1B C>G	12	122257543	122257543	C	G	SETD1B	c.3652C>G	NM_001353345.2	NP_001340274.1:p.(Leu1218Val)	NC_000012.11:g.122257543C>G	(Likely) benign	1 lab	1d336d92a7
2:241722001 KIF1A G>C	2	241722001	241722001	G	C	KIF1A	c.882+6C>G	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241722001G>C	(Likely) benign	1 lab	1d35102333
1:236881138 ACTN2 G>A	1	236881138	236881138	G	A	ACTN2	c.127-20G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236881138G>A	(Likely) benign	1 lab	1d37d15723
2:179541992 TTN A>G	2	179541992	179541992	A	G	TTN	c.34314T>C	NM_001267550.2	NP_001254479.2:p.(Pro11438=)	NC_000002.11:g.179541992A>G	(Likely) benign	1 lab	1d38d19adc
9:101909899 TGFBR1 A>C	9	101909899	101909899	A	C	TGFBR1	c.1256-37A>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101909899A>C	(Likely) benign	1 lab	1d3a5d7f1b
18:34339075 FHOD3 G>A	18	34339075	34339075	G	A	FHOD3	c.4426-6G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34339075G>A	VUS	1 lab	1d3de0f1b4
11:47370459 MYBPC3 T>TTATATATATATATATA	11	47370459	47370478	T	TTATATATATATATATA	MYBPC3	c.655-383_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370463_47370478dup	(Likely) benign	1 lab	1d40086f68
19:49674601 TRPM4 C>A	19	49674601	49674601	C	A	TRPM4	c.797-13C>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49674601C>A	(Likely) benign	1 lab	1d43422538
2:27306061 EMILIN1 G>A	2	27306061	27306061	G	A	EMILIN1	c.1622G>A	NM_007046.4	NP_008977.1:p.(Arg541Gln)	NC_000002.11:g.27306061G>A	(Likely) benign	1 lab	1d48ddc2ee
2:179411504 TTN C>T	2	179411504	179411504	C	T	TTN	c.94651G>A	NM_001267550.2	NP_001254479.2:p.(Val31551Ile)	NC_000002.11:g.179411504C>T	VUS	1 lab	1d49473cf3
3:38663599 SCN5A AG>A	3	38663599	38663600	AG	A	SCN5A	c.482+291del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38663600del	(Likely) benign	1 lab	1d4a2a3d79
19:11227586 LDLR C>A	19	11227586	11227586	C	A	LDLR	c.1757C>A	NM_000527.5	NP_000518.1:p.(Ser586Ter)	NC_000019.9:g.11227586C>A	(Likely) pathogenic	1 lab	1d4cc4569d
Y:21894633 KDM5D CA>C	Y	21894633	21894648	CA	C	KDM5D	c.934-6del	NM_001146705.2	NP_001140177.1:p.?	NC_000024.9:g.21894648del	(Likely) benign	1 lab	1d4cccde5b
2:44040455 ABCG5 A>C	2	44040455	44040455	A	C	ABCG5	c.1763-7T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040455A>C	(Likely) benign	1 lab	1d4f8faaaf
12:49425794 KMT2D G>A	12	49425794	49425794	G	A	KMT2D	c.12694C>T	NM_003482.4	NP_003473.3:p.(Gln4232Ter)	NC_000012.11:g.49425794G>A	(Likely) pathogenic	1 lab	1d51acc251
2:233633500 KCNJ13 G>A	2	233633500	233633500	G	A	KCNJ13	c.484C>T	NM_002242.4	NP_002233.2:p.(Arg162Trp)	NC_000002.11:g.233633500G>A	(Likely) pathogenic	1 lab	1d51d4f697
1:94543435 ABCA4 C>T	1	94543435	94543435	C	T	ABCA4	c.1365G>A	NM_000350.3	NP_000341.2:p.(Leu455=)	NC_000001.10:g.94543435C>T	(Likely) benign	1 lab	1d52e22640
1:22178632 HSPG2 G>A	1	22178632	22178632	G	A	HSPG2	c.6822C>T	NM_001291860.2	NP_001278789.1:p.(His2274=)	NC_000001.10:g.22178632G>A	(Likely) benign	1 lab	1d59b7928c
17:36707545 SRCIN1 C>T	17	36707545	36707545	C	T	SRCIN1	c.2808G>A	NM_025248.3	NP_079524.2:p.(Glu936=)	NC_000017.10:g.36707545C>T	(Likely) benign	1 lab	1d5de1ec04
1:10384849 KIF1B T>C	1	10384849	10384849	T	C	KIF1B	c.2571T>C	NM_001365951.3	NP_001352880.1:p.(Asp857=)	NC_000001.10:g.10384849T>C	(Likely) benign	1 lab	1d63078a5e
20:25371129 ABHD12 CG>C	20	25371129	25371130	CG	C	ABHD12	c.191+19del	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371130del	(Likely) benign	1 lab	1d6366b47a
16:77387699 ADAMTS18 A>G	16	77387699	77387699	A	G	ADAMTS18	c.1545T>C	NM_199355.4	NP_955387.1:p.(Tyr515=)	NC_000016.9:g.77387699A>G	(Likely) benign	1 lab	1d64a3e08e
X:70443697 GJB1 A>G	X	70443697	70443697	A	G	GJB1	c.140A>G	NM_000166.6	NP_000157.1:p.(Glu47Gly)	NC_000023.10:g.70443697A>G	(Likely) pathogenic	1 lab	1d66f19e02
19:11200169 LDLR TAGGA>T	19	11200169	11200173	TAGGA	T	LDLR	c.-55_-52del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200170_11200173del	VUS	1 lab	1d67025068
12:57422543 MYO1A T>A	12	57422543	57422543	T	A	MYO1A	c.3128A>T	NM_005379.4	NP_005370.1:p.(Gln1043Leu)	NC_000012.11:g.57422543T>A	VUS	1 lab	1d6a487835
5:95767920 PCSK1 T>C	5	95767920	95767920	T	C	PCSK1	c.180+647A>G	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95767920T>C	(Likely) benign	1 lab	1d6aa3c04e
21:38862517 DYRK1A T>A	21	38862517	38862517	T	A	DYRK1A	c.678T>A	NM_130436.2	NP_569120.1:p.(Cys226Ter)	NC_000021.8:g.38862517T>A	(Likely) pathogenic	1 lab	1d72930602
17:41256190 BRCA1 G>C	17	41256190	41256190	G	C	BRCA1	c.390C>G	NM_007294.4	NP_009225.1:p.(Tyr130Ter)	NC_000017.10:g.41256190G>C	(Likely) pathogenic	1 lab	1d73a1e451
X:83736634 MISSING T>Alt too long to show for this DUP	X	83736634	84189791	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.83736635_84189791dup	VUS	1 lab	1d74eec4c5
9:137693828 COL5A1 G>GC	9	137693828	137693835	G	GC	COL5A1	c.2988dup	NM_000093.5	NP_000084.3:p.(Gly997ArgfsTer17)	NC_000009.11:g.137693835dup	(Likely) pathogenic	1 lab	1d7701b030
8:59410792 CYP7A1 G>A	8	59410792	59410792	G	A	CYP7A1	c.317C>T	NM_000780.4	NP_000771.2:p.(Ala106Val)	NC_000008.10:g.59410792G>A	VUS	1 lab	1d79fff176
6:7567315 DSP T>C	6	7567315	7567315	T	C	DSP	c.1045-272T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7567315T>C	(Likely) benign	1 lab	1d83ab3655
12:80863566 PTPRQ Ref too long to show for this DEL>C	12	80863566	80884888	Ref too long to show for this DEL	C	PTPRQ	c.1039+950_1360-2166del	NM_001145026.2	NP_001138498.1:p.?	NC_000012.11:g.80863567_80884888del	VUS	1 lab	1d889349a7
10:35070509 MISSING C>Alt too long to show for this DUP	10	35070509	35644897	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.35070510_35644897dup	VUS	1 lab	1d8c247826
1:63067983 ANGPTL3 G>A	1	63067983	63067983	G	A	ANGPTL3	c.863G>A	NM_014495.4	NP_055310.1:p.(Arg288Gln)	NC_000001.10:g.63067983G>A	VUS	1 lab	1d8ffb5445
1:162699388 MISSING Ref too long to show for this DEL>T	1	162699388	167549984	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.162699389_167549984del	(Likely) pathogenic	1 lab	1d94c4901e
17:11550413 DNAH9 T>TG	17	11550413	11550414	T	TG	DNAH9	c.1995_1996insG	NM_001372.4	NP_001363.2:p.(Trp666ValfsTer21)	NC_000017.10:g.11550413_11550414insG	(Likely) pathogenic	1 lab	1d97718344
10:75867068 VCL G>A	10	75867068	75867068	G	A	VCL	c.2515G>A	NM_003373.4	NP_003364.1:p.(Glu839Lys)	NC_000010.10:g.75867068G>A	VUS	1 lab	1d9a106d3f
16:3788671 CREBBP C>T	16	3788671	3788671	C	T	CREBBP	c.4283G>A	NM_004380.3	NP_004371.2:p.(Arg1428His)	NC_000016.9:g.3788671C>T	VUS	1 lab	1d9cb9f7af
2:113952630 MISSING C>Alt too long to show for this DUP	2	113952630	114044093	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.113952631_114044093dup	VUS	1 lab	1d9ce3cebe
15:63340923 TPM1 T>A	15	63340923	63340923	T	A	TPM1	c.240+4572T>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63340923T>A	(Likely) benign	1 lab	1da544469b
2:179613274 TTN A>G	2	179613274	179613274	A	G	TTN	c.13853T>C	NM_133379.5	NP_596870.2:p.(Leu4618Pro)	NC_000002.11:g.179613274A>G	VUS	1 lab	1da9437c10
9:107593939 ABCA1 A>G	9	107593939	107593939	A	G	ABCA1	c.1679T>C	NM_005502.4	NP_005493.2:p.(Ile560Thr)	NC_000009.11:g.107593939A>G	VUS	1 lab	1da954e566
17:66518958 PRKAR1A A>T	17	66518958	66518958	A	T	PRKAR1A	c.239A>T	NM_002734.5	NP_002725.1:p.(Asp80Val)	NC_000017.10:g.66518958A>T	VUS	1 lab	1da96c38fc
6:7586111 DSP G>A	6	7586111	7586111	G	A	DSP	c.8616G>A	NM_004415.4	NP_004406.2:p.(Ter2872=)	NC_000006.11:g.7586111G>A	(Likely) benign	1 lab	1daa1a5727
2:227662301 IRS1 G>A	2	227662301	227662301	G	A	IRS1	c.1154C>T	NM_005544.3	NP_005535.1:p.(Ser385Leu)	NC_000002.11:g.227662301G>A	VUS	1 lab	1daa22c546
9:27206760 TEK C>T	9	27206760	27206760	C	T	TEK	c.2545C>T	NM_000459.5	NP_000450.3:p.(Arg849Trp)	NC_000009.11:g.27206760C>T	(Likely) pathogenic	1 lab	1daefa0492
20:57466889 GNAS C>T	20	57466889	57466889	C	T	GNAS	c.108C>T	NM_001077488.5	NP_001070956.1:p.(Val36=)	NC_000020.10:g.57466889C>T	(Likely) benign	1 lab	1dafa17ca6
2:80420694 CTNNA2 Ref too long to show for this DEL>C	2	80420694	80460262	Ref too long to show for this DEL	C	CTNNA2	c.1057-199640_1057-160074del	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.80420696_80460262del	VUS	1 lab	1dafd4d879
13:23906241 SACS TCAAA>T	13	23906241	23906247	TCAAA	T	SACS	c.11770_11773del	NM_014363.6	NP_055178.3:p.(Phe3924ThrfsTer19)	NC_000013.10:g.23906244_23906247del	(Likely) pathogenic	1 lab	1db29540c7
2:166170246 SCN2A A>G	2	166170246	166170246	A	G	SCN2A	c.1151A>G	NM_021007.3	NP_066287.2:p.(Asp384Gly)	NC_000002.11:g.166170246A>G	VUS	1 lab	1db31c94e6
3:179123184 GNB4 T>C	3	179123184	179123184	T	C	GNB4	c.710A>G	NM_021629.4	NP_067642.1:p.(Asn237Ser)	NC_000003.11:g.179123184T>C	VUS	1 lab	1db5fcc466
17:41243029 BRCA1 C>A	17	41243029	41243029	C	A	BRCA1	c.4117G>T	NM_007294.4	NP_009225.1:p.(Glu1373Ter)	NC_000017.10:g.41243029C>A	(Likely) pathogenic	1 lab	1db6097814
5:33951737 SLC45A2 ACT>A	5	33951737	33951741	ACT	A	SLC45A2	c.1076_1077del	NM_001012509.4	NP_001012527.2:p.(Glu359ValfsTer85)	NC_000005.9:g.33951740_33951741del	(Likely) pathogenic	1 lab	1db813a621
9:107568585 ABCA1 G>A	9	107568585	107568585	G	A	ABCA1	c.4401C>T	NM_005502.4	NP_005493.2:p.(Ser1467=)	NC_000009.11:g.107568585G>A	(Likely) benign	1 lab	1dbb20be40
5:174151723 MSX2 GT>G	5	174151723	174151724	GT	G	MSX2	c.62del	NM_002449.5	NP_002440.2:p.(Val21GlyfsTer76)	NC_000005.9:g.174151724del	(Likely) pathogenic	1 lab	1dbb3e05b8
2:179422375 TTN T>C	2	179422375	179422375	T	C	TTN	c.87706A>G	NM_001267550.2	NP_001254479.2:p.(Thr29236Ala)	NC_000002.11:g.179422375T>C	VUS	1 lab	1dbbf22d3d
5:146795395 DPYSL3 CCT>C	5	146795395	146795398	CCT	C	DPYSL3	c.695_696del	NM_001197294.2	NP_001184223.1:p.(Glu232GlyfsTer3)	NC_000005.9:g.146795397_146795398del	VUS	1 lab	1dbcf75acf
9:137593413 COL5A1 G>A	9	137593413	137593413	G	A	COL5A1	c.654+234G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593413G>A	(Likely) benign	1 lab	1dbf428692
1:23399663 MISSING Ref too long to show for this DEL>A	1	23399663	23438405	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.23399664_23438405del	VUS	1 lab	1dc0b4027f
11:47354100 MYBPC3 C>T	11	47354100	47354100	C	T	MYBPC3	c.3627+17G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354100C>T	(Likely) benign	1 lab	1dc436b7a7
2:51248751 MISSING Ref too long to show for this DEL>A	2	51248751	51556145	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.51248752_51556145del	(Likely) pathogenic	1 lab	1dc44cc50a
X:69665141 DLG3 CG>C	X	69665141	69665143	CG	C	DLG3	c.92del	NM_021120.4	NP_066943.2:p.(Gly31AlafsTer90)	NC_000023.10:g.69665143del	(Likely) pathogenic	1 lab	1dc52e2f24
19:17091381 CPAMD8 G>A	19	17091381	17091381	G	A	CPAMD8	c.1511C>T	NM_015692.5	NP_056507.3:p.(Thr504Ile)	NC_000019.9:g.17091381G>A	(Likely) benign	1 lab	1dc5786172
19:2102183 AP3D1 C>T	19	2102183	2102183	C	T	AP3D1	c.3637G>A	NM_001261826.3	NP_001248755.1:p.(Ala1213Thr)	NC_000019.9:g.2102183C>T	VUS	1 lab	1dc5f12077
1:25890246 LDLRAP1 G>A	1	25890246	25890246	G	A	LDLRAP1	c.711G>A	NM_015627.3	NP_056442.2:p.(Pro237=)	NC_000001.10:g.25890246G>A	(Likely) benign	1 lab	1dc6b1b3ce
2:219846849 FEV C>T	2	219846849	219846849	C	T	FEV	c.257G>A	NM_017521.3	NP_059991.1:p.(Arg86Gln)	NC_000002.11:g.219846849C>T	VUS	1 lab	1dc83066ce
16:1004969 LMF1 CAT>C	16	1004969	1004973	CAT	C	LMF1	c.194-305_194-304del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004972_1004973del	(Likely) benign	1 lab	1dcb50d861
4:110772922 LRIT3 G>T	4	110772922	110772922	G	T	LRIT3	c.379G>T	NM_198506.5	NP_940908.3:p.(Asp127Tyr)	NC_000004.11:g.110772922G>T	VUS	1 lab	1dcf91a140
11:6414619 SMPD1 TGAGG>T	11	6414619	6414624	TGAGG	T	SMPD1	c.1263+4_1263+7del	NM_000543.5	NP_000534.3:p.?	NC_000011.9:g.6414621_6414624del	(Likely) pathogenic	1 lab	1dcfd7b423
12:110231720 TRPV4 G>A	12	110231720	110231720	G	A	TRPV4	c.1584+15C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110231720G>A	(Likely) benign	1 lab	1dd5dfdd3b
6:100896123 SIM1 G>T	6	100896123	100896123	G	T	SIM1	c.749C>A	NM_005068.3	NP_005059.2:p.(Ala250Glu)	NC_000006.11:g.100896123G>T	VUS	1 lab	1dda825f6b
17:48270363 COL1A1 CA>C	17	48270363	48270364	CA	C	COL1A1	c.1812del	NM_000088.4	NP_000079.2:p.(Gly605AlafsTer161)	NC_000017.10:g.48270364del	(Likely) pathogenic	1 lab	1ddb8ea070
15:58834752 LIPC G>A	15	58834752	58834752	G	A	LIPC	c.476G>A	NM_000236.3	NP_000227.2:p.(Arg159Gln)	NC_000015.9:g.58834752G>A	VUS	1 lab	1ddbae3e87
3:123456209 MYLK G>A	3	123456209	123456209	G	A	MYLK	c.754+16C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123456209G>A	(Likely) benign	1 lab	1ddc7f6c4d
2:230662529 TRIP12 C>T	2	230662529	230662529	C	T	TRIP12	c.3276G>A	NM_004238.3	NP_004229.1:p.(Trp1092Ter)	NC_000002.11:g.230662529C>T	(Likely) pathogenic	1 lab	1ddf823184
X:37029393 FAM47C C>G	X	37029393	37029393	C	G	FAM47C	c.2910C>G	NM_001013736.3	NP_001013758.1:p.(Pro970=)	NC_000023.10:g.37029393C>G	(Likely) benign	1 lab	1de31edf77
22:26937486 TPST2 G>T	22	26937486	26937486	G	T	TPST2	c.273C>A	NM_001362923.2	NP_001349852.1:p.(Gly91=)	NC_000022.10:g.26937486G>T	(Likely) benign	1 lab	1de38fbeb8
2:179572480 TTN TCTC>T	2	179572480	179572485	TCTC	T	TTN	c.28811_28813del	NM_001267550.2	NP_001254479.2:p.(Gly9604del)	NC_000002.11:g.179572483_179572485del	VUS	1 lab	1de44018e0
7:128489277 FLNC C>T	7	128489277	128489277	C	T	FLNC	c.4951+19C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489277C>T	(Likely) benign	1 lab	1de46c2e10
2:219674399 CYP27A1 C>T	2	219674399	219674399	C	T	CYP27A1	c.355C>T	NM_000784.4	NP_000775.1:p.(Arg119Trp)	NC_000002.11:g.219674399C>T	(Likely) pathogenic	1 lab	1de84487b3
5:127674630 FBN2 C>G	5	127674630	127674630	C	G	FBN2	c.3467G>C	NM_001999.4	NP_001990.2:p.(Cys1156Ser)	NC_000005.9:g.127674630C>G	(Likely) pathogenic	1 lab	1de995abc1
1:54975154 MISSING Ref too long to show for this DEL>C	1	54975154	55512568	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.54975155_55512568del	(Likely) pathogenic	1 lab	1deca7b4dd
X:70444395 GJB1 T>G	X	70444395	70444395	T	G	GJB1	c.838T>G	NM_000166.6	NP_000157.1:p.(Cys280Gly)	NC_000023.10:g.70444395T>G	(Likely) pathogenic	1 lab	1ded0f658e
7:33217203 BBS9 G>C	7	33217203	33217203	G	C	BBS9	c.442G>C	NM_198428.3	NP_940820.1:p.(Gly148Arg)	NC_000007.13:g.33217203G>C	VUS	1 lab	1df140b4e2
8:176451 MISSING Ref too long to show for this DEL>G	8	176451	6360237	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.176452_6360237del	(Likely) pathogenic	1 lab	1df1a9fcd6
1:103388822 COL11A1 Ref too long to show for this DEL>A	1	103388822	103412255	Ref too long to show for this DEL	A	COL11A1	c.3276+150_3654+69del	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103388823_103412255del	(Likely) pathogenic	1 lab	1df3694342
2:179563652 TTN A>C	2	179563652	179563652	A	C	TTN	c.30683-11T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563652A>C	(Likely) benign	1 lab	1df3fa67f2
16:53872512 FTO Ref too long to show for this DEL>C	16	53872512	53906307	Ref too long to show for this DEL	C	FTO	c.752-5554_896-1391del	NM_001080432.3	NP_001073901.1:p.?	NC_000016.9:g.53872513_53906307del	VUS	1 lab	1df51805c9
9:117166367 WHRN G>C	9	117166367	117166367	G	C	WHRN	c.2237-10C>G	NM_015404.4	NP_056219.3:p.?	NC_000009.11:g.117166367G>C	(Likely) benign	1 lab	1df6e7f36b
9:137591958 COL5A1 T>C	9	137591958	137591958	T	C	COL5A1	c.481T>C	NM_000093.5	NP_000084.3:p.(Ser161Pro)	NC_000009.11:g.137591958T>C	VUS	1 lab	1e00633ee0
19:55263897 KIR2DL3 C>T	19	55263897	55263897	C	T	KIR2DL3	c.952C>T	NM_015868.3	NP_056952.2:p.(Arg318Cys)	NC_000019.9:g.55263897C>T	(Likely) benign	1 lab	1e0082550e
15:48713087 FBN1 T>G	15	48713087	48713087	T	G	FBN1	c.7700-84A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48713087T>G	(Likely) benign	1 lab	1e00c27607
19:11227454 LDLR C>T	19	11227454	11227454	C	T	LDLR	c.1706-81C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227454C>T	(Likely) benign	1 lab	1e03ca4089
X:70444038 GJB1 G>C	X	70444038	70444038	G	C	GJB1	c.481G>C	NM_000166.6	NP_000157.1:p.(Ala161Pro)	NC_000023.10:g.70444038G>C	(Likely) pathogenic	1 lab	1e04071ac5
11:47356445 MYBPC3 G>A	11	47356445	47356445	G	A	MYBPC3	c.2905+148C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356445G>A	(Likely) benign	1 lab	1e0472b467
5:914664 TRIP13 T>C	5	914664	914664	T	C	TRIP13	c.1105T>C	NM_004237.4	NP_004228.1:p.(Leu369=)	NC_000005.9:g.914664T>C	(Likely) benign	1 lab	1e0bcbc6a8
9:135204975 SETX CTCA>C	9	135204975	135204979	CTCA	C	SETX	c.2007_2009del	NM_015046.7	NP_055861.3:p.(Asn669_Glu670delinsLys)	NC_000009.11:g.135204977_135204979del	VUS	1 lab	1e0ce0728d
17:48265980 COL1A1 C>T	17	48265980	48265980	C	T	COL1A1	c.3118G>A	NM_000088.4	NP_000079.2:p.(Gly1040Ser)	NC_000017.10:g.48265980C>T	(Likely) pathogenic	1 lab	1e0e414ed9
6:56489417 DST G>C	6	56489417	56489417	G	C	DST	c.4741C>G	NM_001144769.5	NP_001138241.1:p.(Leu1581Val)	NC_000006.11:g.56489417G>C	VUS	1 lab	1e0fde1807
12:125324197 SCARB1 G>A	12	125324197	125324197	G	A	SCARB1	c.-405C>T	NM_001367982.1	NP_001354911.1:p.?	NC_000012.11:g.125324197G>A	(Likely) benign	1 lab	1e108bd15f
11:66291302 BBS1 A>G	11	66291302	66291302	A	G	BBS1	c.1059A>G	NM_024649.5	NP_078925.3:p.(Gly353=)	NC_000011.9:g.66291302A>G	(Likely) benign	1 lab	1e147a249c
11:48347144 OR4C3 T>C	11	48347144	48347144	T	C	OR4C3	c.571T>C	NM_001004702.2	NP_001004702.2:p.(Tyr191His)	NC_000011.9:g.48347144T>C	(Likely) benign	1 lab	1e14b2a57e
5:90445828 ADGRV1 T>TTTC	5	90445828	90445831	T	TTTC	ADGRV1	c.18433-17_18433-16insCTT	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445830_90445831insCTT	(Likely) benign	1 lab	1e15f68155
1:3319541 PRDM16 G>A	1	3319541	3319541	G	A	PRDM16	c.863G>A	NM_022114.4	NP_071397.3:p.(Arg288Gln)	NC_000001.10:g.3319541G>A	VUS	1 lab	1e17ea56d8
1:216172264 USH2A C>T	1	216172264	216172264	C	T	USH2A	c.6622G>A	NM_206933.4	NP_996816.3:p.(Val2208Ile)	NC_000001.10:g.216172264C>T	VUS	1 lab	1e18b78dbe
17:45221318 CDC27 A>C	17	45221318	45221318	A	C	CDC27	c.1119T>G	NM_001114091.4	NP_001107563.1:p.(Ile373Met)	NC_000017.10:g.45221318A>C	(Likely) benign	1 lab	1e1cbf9991
3:57898433 SLMAP A>G	3	57898433	57898433	A	G	SLMAP	c.1918+5A>G	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57898433A>G	(Likely) benign	1 lab	1e1d5de3de
6:123825039 TRDN CTTCTG>C	6	123825039	123825050	CTTCTG	C	TRDN	c.613_617del	NM_006073.4	NP_006064.2:p.(Gln205GlufsTer3)	NC_000006.11:g.123825046_123825050del	(Likely) pathogenic	1 lab	1e2387e8f6
6:112528335 LAMA4 C>T	6	112528335	112528335	C	T	LAMA4	c.309G>A	NM_002290.5	NP_002281.3:p.(Arg103=)	NC_000006.11:g.112528335C>T	(Likely) benign	1 lab	1e273cdffa
10:68940161 CTNNA3 T>C	10	68940161	68940161	T	C	CTNNA3	c.961A>G	NM_013266.4	NP_037398.2:p.(Arg321Gly)	NC_000010.10:g.68940161T>C	VUS	1 lab	1e27651b26
9:35719230 TLN1 T>G	9	35719230	35719230	T	G	TLN1	c.1737A>C	NM_006289.4	NP_006280.3:p.(Thr579=)	NC_000009.11:g.35719230T>G	(Likely) benign	1 lab	1e2799c301
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-23_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844574_100844594dup	(Likely) benign	1 lab	1e27f4f2ce
6:7559260 DSP T>C	6	7559260	7559260	T	C	DSP	c.423-199T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559260T>C	(Likely) benign	1 lab	1e28091b21
12:50498353 GPD1 C>G	12	50498353	50498353	C	G	GPD1	c.42-4C>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498353C>G	VUS	1 lab	1e2b11aa7a
5:150945566 FAT2 A>AG	5	150945566	150945568	A	AG	FAT2	c.2926dup	NM_001447.3	NP_001438.1:p.(Leu976ProfsTer15)	NC_000005.9:g.150945568dup	VUS	1 lab	1e2c2fa951
2:99012502 CNGA3 G>A	2	99012502	99012502	G	A	CNGA3	c.869G>A	NM_001298.3	NP_001289.1:p.(Arg290His)	NC_000002.11:g.99012502G>A	VUS	1 lab	1e2d15d916
2:44051084 ABCG5 G>A	2	44051084	44051084	G	A	ABCG5	c.1292C>T	NM_022436.3	NP_071881.1:p.(Pro431Leu)	NC_000002.11:g.44051084G>A	VUS	1 lab	1e2e72c682
20:47990708 KCNB1 A>T	20	47990708	47990708	A	T	KCNB1	c.1389T>A	NM_004975.4	NP_004966.1:p.(Ile463=)	NC_000020.10:g.47990708A>T	(Likely) benign	1 lab	1e2ef80922
12:125270994 SCARB1 A>G	12	125270994	125270994	A	G	SCARB1	c.1310T>C	NM_001367981.1	NP_001354910.1:p.(Met437Thr)	NC_000012.11:g.125270994A>G	(Likely) benign	1 lab	1e3171a09f
7:72624201 MISSING Ref too long to show for this DEL>A	7	72624201	72718124	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72624204_72718124del	VUS	1 lab	1e31c2c327
3:37860417 ITGA9 C>T	3	37860417	37860417	C	T	ITGA9	c.3045C>T	NM_002207.3	NP_002198.2:p.(Ile1015=)	NC_000003.11:g.37860417C>T	(Likely) benign	1 lab	1e330e1686
16:14779934 MISSING Ref too long to show for this DEL>C	16	14779934	16525489	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.14779935_16525489del	(Likely) pathogenic	1 lab	1e34d61a0c
15:58834779 LIPC G>T	15	58834779	58834779	G	T	LIPC	c.503G>T	NM_000236.3	NP_000227.2:p.(Ser168Ile)	NC_000015.9:g.58834779G>T	VUS	1 lab	1e3cda099c
15:78447626 IDH3A AATT>A	15	78447626	78447631	AATT	A	IDH3A	c.90+12_90+14del	NM_005530.3	NP_005521.1:p.?	NC_000015.9:g.78447629_78447631del	(Likely) benign	1 lab	1e3d0d5474
16:1605044 IFT140 C>T	16	1605044	1605044	C	T	IFT140	c.2399+2892G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1605044C>T	(Likely) benign	1 lab	1e56de459a
1:12854510 PRAMEF1 A>C	1	12854510	12854510	A	C	PRAMEF1	c.734A>C	NM_023013.4	NP_075389.2:p.(Tyr245Ser)	NC_000001.10:g.12854510A>C	(Likely) benign	1 lab	1e4252e016
6:56468206 DST C>T	6	56468206	56468206	C	T	DST	c.10954G>A	NM_001374736.1	NP_001361665.1:p.(Gly3652Arg)	NC_000006.11:g.56468206C>T	(Likely) benign	1 lab	1e4c920dbb
19:54726840 LILRB3 G>A	19	54726840	54726840	G	A	LILRB3	c.1310-3052C>T	NM_001320960.2	NP_001307889.1:p.?	NC_000019.9:g.54726840G>A	(Likely) benign	1 lab	1e4fd77f48
11:68704542 IGHMBP2 AAAAG>A	11	68704542	68704549	AAAAG	A	IGHMBP2	c.2598_2601del	NM_002180.3	NP_002171.2:p.(Lys868ProfsTer109)	NC_000011.9:g.68704546_68704549del	(Likely) pathogenic	1 lab	1e502a5d26
14:23243209 SLC7A7 C>G	14	23243209	23243209	C	G	SLC7A7	c.1362G>C	NM_001126106.4	NP_001119578.1:p.(Leu454=)	NC_000014.8:g.23243209C>G	(Likely) benign	1 lab	1e513c786c
11:65321260 LTBP3 A>G	11	65321260	65321260	A	G	LTBP3	c.776T>C	NM_001130144.3	NP_001123616.1:p.(Leu259Pro)	NC_000011.9:g.65321260A>G	VUS	1 lab	1e5235bdc1
2:108622565 SLC5A7 A>G	2	108622565	108622565	A	G	SLC5A7	c.802A>G	NM_021815.5	NP_068587.1:p.(Thr268Ala)	NC_000002.11:g.108622565A>G	VUS	1 lab	1e564fd152
1:152185817 HRNR CCA>C	1	152185817	152185819	CCA	C	HRNR	c.8286_8287del	NM_001009931.3	NP_001009931.1:p.(His2762GlnfsTer9)	NC_000001.10:g.152185818_152185819del	(Likely) benign	1 lab	1e56a6fc22
22:50893641 SBF1 C>T	22	50893641	50893641	C	T	SBF1	c.4554+12G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50893641C>T	(Likely) benign	1 lab	1e5a882423
15:45400290 DUOX2 CG>C	15	45400290	45400291	CG	C	DUOX2	c.1528del	NM_001363711.2	NP_001350640.1:p.(Arg510GlyfsTer76)	NC_000015.9:g.45400291del	(Likely) pathogenic	1 lab	1e5abe7034
15:40322581 EIF2AK4 CA>C	15	40322581	40322583	CA	C	EIF2AK4	c.4585del	NM_001013703.4	NP_001013725.2:p.(Thr1529GlnfsTer6)	NC_000015.9:g.40322583del	(Likely) pathogenic	1 lab	1e5e3907de
4:121706162 PRDM5 T>C	4	121706162	121706162	T	C	PRDM5	c.1273A>G	NM_018699.4	NP_061169.2:p.(Ile425Val)	NC_000004.11:g.121706162T>C	(Likely) benign	1 lab	1e5f15e8ea
3:135722125 PPP2R3A G>A	3	135722125	135722125	G	A	PPP2R3A	c.1785G>A	NM_002718.5	NP_002709.2:p.(Leu595=)	NC_000003.11:g.135722125G>A	(Likely) benign	1 lab	1e60c99330
12:57963087 KIF5A G>T	12	57963087	57963087	G	T	KIF5A	c.868G>T	NM_004984.4	NP_004975.2:p.(Asp290Tyr)	NC_000012.11:g.57963087G>T	VUS	1 lab	1e621d92e5
5:149459832 CSF1R C>T	5	149459832	149459832	C	T	CSF1R	c.375G>A	NM_005211.4	NP_005202.2:p.(Leu125=)	NC_000005.9:g.149459832C>T	(Likely) benign	1 lab	1e62893042
14:21762981 RPGRIP1 C>G	14	21762981	21762981	C	G	RPGRIP1	c.218+13C>G	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21762981C>G	(Likely) benign	1 lab	1e640c72db
9:107586845 ABCA1 G>A	9	107586845	107586845	G	A	ABCA1	c.2557C>T	NM_005502.4	NP_005493.2:p.(Pro853Ser)	NC_000009.11:g.107586845G>A	VUS	1 lab	1e6944ff7c
7:94027043 COL1A2 C>CTT	7	94027043	94027053	C	CTT	COL1A2	c.71-8_71-7dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027052_94027053dup	(Likely) benign	1 lab	1e6b9b0f69
18:47117207 LIPG A>G	18	47117207	47117207	A	G	LIPG	c.*315A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47117207A>G	(Likely) benign	1 lab	1e71b9aef5
15:48826283 FBN1 A>G	15	48826283	48826283	A	G	FBN1	c.856T>C	NM_000138.5	NP_000129.3:p.(Cys286Arg)	NC_000015.9:g.48826283A>G	(Likely) pathogenic	1 lab	1e727956e4
3:129247795 RHO C>A	3	129247795	129247795	C	A	RHO	c.219C>A	NM_000539.3	NP_000530.1:p.(Asn73Lys)	NC_000003.11:g.129247795C>A	VUS	1 lab	1e737bb38e
X:84532271 POF1B Ref too long to show for this DEL>G	X	84532271	84561604	Ref too long to show for this DEL	G	POF1B				NC_000023.10:g.84532273_84561604del	(Likely) pathogenic	1 lab	1e793c47dd
9:80880442 CEP78 C>A	9	80880442	80880442	C	A	CEP78	c.1783C>A	NM_001349839.2	NP_001336768.1:p.(Gln595Lys)	NC_000009.11:g.80880442C>A	(Likely) benign	1 lab	1e7a533e40
3:78708810 ROBO1 A>AATATAT	3	78708810	78708824	A	AATATAT	ROBO1	c.2334+20_2334+25dup	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78708819_78708824dup	(Likely) benign	1 lab	1e7c19530f
1:6534536 PLEKHG5 G>A	1	6534536	6534536	G	A	PLEKHG5	c.414C>T	NM_198681.4	NP_941374.3:p.(Phe138=)	NC_000001.10:g.6534536G>A	(Likely) benign	1 lab	1e7c89fac7
1:25880493 LDLRAP1 C>T	1	25880493	25880493	C	T	LDLRAP1	c.169C>T	NM_015627.3	NP_056442.2:p.(Leu57=)	NC_000001.10:g.25880493C>T	(Likely) benign	1 lab	1e7da4c6b9
1:186008849 HMCN1 G>T	1	186008849	186008849	G	T	HMCN1	c.6029-11G>T	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186008849G>T	(Likely) benign	1 lab	1e803a5497
2:179490127 TTN G>C	2	179490127	179490127	G	C	TTN	c.44425-4C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179490127G>C	(Likely) pathogenic	1 lab	1e82b86601
11:68703973 IGHMBP2 C>T	11	68703973	68703973	C	T	IGHMBP2	c.2025C>T	NM_002180.3	NP_002171.2:p.(Thr675=)	NC_000011.9:g.68703973C>T	(Likely) benign	1 lab	1e838f5776
21:47685968 MCM3AP C>T	21	47685968	47685968	C	T	MCM3AP	c.2902G>A	NM_003906.5	NP_003897.2:p.(Gly968Arg)	NC_000021.8:g.47685968C>T	VUS	1 lab	1e85cd8235
6:123824837 TRDN C>T	6	123824837	123824837	C	T	TRDN	c.820G>A	NM_001256021.2	NP_001242950.1:p.(Gly274Arg)	NC_000006.11:g.123824837C>T	(Likely) benign	1 lab	1e8812dced
9:16830 WASHC1 T>A	9	16830	16830	T	A	WASHC1	c.930A>T	NM_182905.6	NP_878908.4:p.(Pro310=)	NC_000009.11:g.16830T>A	(Likely) benign	1 lab	1e8925e5fa
1:235543476 TBCE TTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTG	T	TBCE	c.100+56_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543520_235543529del	(Likely) benign	1 lab	1e8de31952
2:74177714 DGUOK A>G	2	74177714	74177714	A	G	DGUOK	c.446A>G	NM_080916.3	NP_550438.1:p.(Tyr149Cys)	NC_000002.11:g.74177714A>G	VUS	1 lab	1e9022cfdb
15:85402643 ALPK3 C>T	15	85402643	85402643	C	T	ALPK3	c.3965+22C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402643C>T	(Likely) benign	1 lab	1e931d88ef
2:220494036 SLC4A3 G>T	2	220494036	220494036	G	T	SLC4A3	c.388G>T	NM_201574.3	NP_963868.3:p.(Gly130Trp)	NC_000002.11:g.220494036G>T	VUS	1 lab	1e955cc4b4
7:8772671 MISSING Ref too long to show for this DEL>T	7	8772671	8824417	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.8772672_8824417del	VUS	1 lab	1e9747b3ff
19:45452694 APOC2 G>GT	19	45452694	45452695	G	GT	APOC2	c.*188_*189insT	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452694_45452695insT	(Likely) benign	1 lab	1e97b1983e
14:23865511 MYH6 T>C	14	23865511	23865511	T	C	MYH6	c.2411A>G	NM_002471.4	NP_002462.2:p.(Lys804Arg)	NC_000014.8:g.23865511T>C	VUS	1 lab	1e98af95a0
X:114879399 PLS3 T>C	X	114879399	114879399	T	C	PLS3	c.1242T>C	NM_005032.7	NP_005023.2:p.(Pro414=)	NC_000023.10:g.114879399T>C	(Likely) benign	1 lab	1e9997d3ba
9:101904935 TGFBR1 C>T	9	101904935	101904935	C	T	TGFBR1	c.923C>T	NM_004612.4	NP_004603.1:p.(Ser308Phe)	NC_000009.11:g.101904935C>T	VUS	1 lab	1e9b5fb5fa
8:19805956 LPL C>T	8	19805956	19805956	C	T	LPL	c.249+105C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805956C>T	(Likely) benign	1 lab	1e9badd7cc
13:32918701 BRCA2 C>G	13	32918701	32918701	C	G	BRCA2	c.6848C>G	NM_000059.4	NP_000050.3:p.(Pro2283Arg)	NC_000013.10:g.32918701C>G	VUS	1 lab	1e9bb6583f
16:70954787 HYDIN G>A	16	70954787	70954787	G	A	HYDIN	c.7492C>T	NM_001270974.2	NP_001257903.1:p.(Arg2498Cys)	NC_000016.9:g.70954787G>A	VUS	1 lab	1e9cb5c76c
17:48256097 MISSING G>Alt too long to show for this DUP	17	48256097	48279011	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.48256098_48279011dup	VUS	1 lab	1ea10fcc4a
10:38271481 MISSING Ref too long to show for this DEL>T	10	38271481	38677334	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.38271482_38677334del	VUS	1 lab	1ea17a59d5
2:21258492 APOB CA>C	2	21258492	21258493	CA	C	APOB	c.781del	NM_000384.3	NP_000375.3:p.(Cys261AlafsTer19)	NC_000002.11:g.21258493del	(Likely) pathogenic	1 lab	1ea313d3b5
10:112542942 RBM20 G>A	10	112542942	112542942	G	A	RBM20	c.1276-182G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112542942G>A	(Likely) benign	1 lab	1ea360351d
7:91864936 KRIT1 T>C	7	91864936	91864936	T	C	KRIT1	c.510A>G	NM_194455.1	NP_919437.1:p.(Gln170=)	NC_000007.13:g.91864936T>C	(Likely) benign	1 lab	1ea506f578
2:179427277 TTN G>A	2	179427277	179427277	G	A	TTN	c.83582C>T	NM_001267550.2	NP_001254479.2:p.(Ser27861Phe)	NC_000002.11:g.179427277G>A	VUS	1 lab	1ea7d102cd
14:80962368 MISSING Ref too long to show for this DEL>G	14	80962368	80995077	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.80962369_80995077del	VUS	1 lab	1ea9f61411
8:10465798 RP1L1 C>T	8	10465798	10465798	C	T	RP1L1	c.5810G>A	NM_178857.6	NP_849188.4:p.(Gly1937Asp)	NC_000008.10:g.10465798C>T	VUS	1 lab	1eaaf9d8b8
3:38835387 SCN10A C>T	3	38835387	38835387	C	T	SCN10A	c.115G>A	NM_006514.4	NP_006505.4:p.(Glu39Lys)	NC_000003.11:g.38835387C>T	VUS	1 lab	1eaef8fcaf
19:48342800 CRX CTG>C	19	48342800	48342805	CTG	C	CRX	c.480_481del	NM_000554.6	NP_000545.1:p.(Ser161HisfsTer12)	NC_000019.9:g.48342804_48342805del	(Likely) pathogenic	1 lab	1eb2c85375
16:16306030 ABCC6 G>A	16	16306030	16306030	G	A	ABCC6	c.662+12C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16306030G>A	(Likely) benign	1 lab	1eb48b9925
16:88803164 PIEZO1 C>T	16	88803164	88803164	C	T	PIEZO1	c.1196-17G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88803164C>T	(Likely) benign	1 lab	1eb5a6ab02
1:168059784 GPR161 A>G	1	168059784	168059784	A	G	GPR161	c.1204+18T>C	NM_001349632.1	NP_001336561.1:p.?	NC_000001.10:g.168059784A>G	(Likely) benign	1 lab	1eb83b0778
12:50500677 GPD1 G>A	12	50500677	50500677	G	A	GPD1	c.589G>A	NM_005276.4	NP_005267.2:p.(Val197Ile)	NC_000012.11:g.50500677G>A	VUS	1 lab	1eb90d378c
6:70964328 COL9A1 T>A	6	70964328	70964328	T	A	COL9A1	c.1666-96A>T	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70964328T>A	(Likely) benign	1 lab	1eb916c7fd
8:101933681 YWHAZ Ref too long to show for this DEL>G	8	101933681	101961783	Ref too long to show for this DEL	G	YWHAZ	c.-11-655_679-702del	NM_145690.3	NP_663723.1:p.?	NC_000008.10:g.101933682_101961783del	VUS	1 lab	1ebb1f5135
4:46252461 GABRA2 G>T	4	46252461	46252461	G	T	GABRA2	c.1220C>A	NM_001114175.3	NP_001107647.1:p.(Ala407Glu)	NC_000004.11:g.46252461G>T	VUS	1 lab	1ec11253fd
20:60942274 LAMA5 C>A	20	60942274	60942274	C	A	LAMA5	c.28G>T	NM_005560.6	NP_005551.3:p.(Ala10Ser)	NC_000020.10:g.60942274C>A	(Likely) benign	1 lab	1ec8bbd7a7
12:125294802 SCARB1 T>C	12	125294802	125294802	T	C	SCARB1	c.760A>G	NM_001367981.1	NP_001354910.1:p.(Ile254Val)	NC_000012.11:g.125294802T>C	VUS	1 lab	1ec9492b13
8:19813889 LPL C>A	8	19813889	19813889	C	A	LPL	c.1018+295C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813889C>A	(Likely) benign	1 lab	1ec9f941cc
9:137716535 COL5A1 G>C	9	137716535	137716535	G	C	COL5A1	c.4788G>C	NM_000093.5	NP_000084.3:p.(Gly1596=)	NC_000009.11:g.137716535G>C	(Likely) benign	1 lab	1ecdd8ea10
1:179858444 TOR1AIP1 G>A	1	179858444	179858444	G	A	TOR1AIP1	c.554-1G>A	NM_001267578.2	NP_001254507.1:p.?	NC_000001.10:g.179858444G>A	(Likely) benign	1 lab	1ecf66adea
19:11200031 LDLR ACTC>A	19	11200031	11200040	ACTC	A	LDLR				NC_000019.9:g.11200038_11200040del	(Likely) pathogenic	1 lab	1ed12c995c
4:114286357 ANK2 A>ATGTGTG	4	114286357	114286388	A	ATGTGTG	ANK2	c.11032+45_11032+50dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286383_114286388dup	(Likely) benign	1 lab	1ed1d76dc7
2:1457610 TPO C>A	2	1457610	1457610	C	A	TPO	c.612+15C>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1457610C>A	(Likely) benign	1 lab	1edcc48818
19:49699758 TRPM4 TGCTGCGGGGGCC>T	19	49699758	49699780	TGCTGCGGGGGCC	T	TRPM4	c.2283_2294del	NM_017636.4	NP_060106.2:p.(Cys763_Arg766del)	NC_000019.9:g.49699769_49699780del	(Likely) benign	1 lab	1edf31ae43
19:11200208 LDLR T>C	19	11200208	11200208	T	C	LDLR	c.-17T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200208T>C	(Likely) benign	1 lab	1ee3b0a808
10:27035405 PDSS1 A>G	10	27035405	27035405	A	G	PDSS1	c.*3A>G	NM_001321979.2	NP_001308908.1:p.?	NC_000010.10:g.27035405A>G	(Likely) benign	1 lab	1ee8fedd48
11:47364109 MYBPC3 G>GC	11	47364109	47364116	G	GC	MYBPC3	c.1624+19dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364116dup	(Likely) benign	1 lab	1f0e8127ca
16:89785915 MISSING Ref too long to show for this DEL>C	16	89785915	89839316	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.89785917_89839316del	VUS	1 lab	1ef71647d9
10:69881237 MYPN G>A	10	69881237	69881237	G	A	MYPN	c.42G>A	NM_032578.4	NP_115967.2:p.(Gln14=)	NC_000010.10:g.69881237G>A	(Likely) benign	1 lab	1ef729a8a3
1:55529216 PCSK9 C>T	1	55529216	55529216	C	T	PCSK9	c.2038C>T	NM_174936.4	NP_777596.2:p.(Arg680Trp)	NC_000001.10:g.55529216C>T	VUS	1 lab	1efcbf96b1
5:172660508 NKX2-5 C>CAAAAAAAAAA	5	172660508	172660522	C	CAAAAAAAAAA	NKX2-5	c.335-14_335-5dup	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660513_172660522dup	(Likely) benign	1 lab	1f00a86517
16:28500659 CLN3 G>A	16	28500659	28500659	G	A	CLN3	c.174C>T	NM_001042432.2	NP_001035897.1:p.(Ala58=)	NC_000016.9:g.28500659G>A	(Likely) benign	1 lab	1f04ff73ec
12:89853401 POC1B A>AC	12	89853401	89853402	A	AC	POC1B	c.1113+13_1113+14insG	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89853401_89853402insC	(Likely) benign	1 lab	1f070e47c7
20:25371129 ABHD12 CGCT>C	20	25371129	25371132	CGCT	C	ABHD12	c.191+17_191+19del	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371130_25371132del	(Likely) benign	1 lab	1f0742d84a
4:155665652 LRAT G>C	4	155665652	155665652	G	C	LRAT	c.174G>C	NM_004744.5	NP_004735.2:p.(Leu58=)	NC_000004.11:g.155665652G>C	(Likely) benign	1 lab	1f074d3486
5:36539777 MISSING G>Alt too long to show for this DUP	5	36539777	36713437	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.36539781_36713437dup	VUS	1 lab	1f0846ed85
2:189860675 COL3A1 T>C	2	189860675	189860675	T	C	COL3A1	c.1608+159T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860675T>C	(Likely) benign	1 lab	1f09eeccf0
11:47364151 MYBPC3 C>T	11	47364151	47364151	C	T	MYBPC3	c.1602G>A	NM_000256.3	NP_000247.2:p.(Ala534=)	NC_000011.9:g.47364151C>T	(Likely) benign	1 lab	1f0c0dfcf4
12:122268047 SETD1B G>A	12	122268047	122268047	G	A	SETD1B	c.5803G>A	NM_001353345.2	NP_001340274.1:p.(Val1935Ile)	NC_000012.11:g.122268047G>A	(Likely) benign	1 lab	1f122ace40
15:44900809 SPG11 TA>T	15	44900809	44900816	TA	T	SPG11	c.3292-7del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44900816del	(Likely) benign	1 lab	1f13313028
1:75009678 FPGT-TNNI3K G>A	1	75009678	75009678	G	A	FPGT-TNNI3K	c.*12G>A	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.75009678G>A	(Likely) benign	1 lab	1f133b11a3
3:70014387 MITF G>A	3	70014387	70014387	G	A	MITF	c.1551G>A	NM_198159.3	NP_937802.1:p.(Glu517=)	NC_000003.11:g.70014387G>A	(Likely) benign	1 lab	1f161e68df
11:116701316 APOC3 CCTT>C	11	116701316	116701319	CCTT	C	APOC3	c.19_21del	NM_000040.3	NP_000031.1:p.(Leu7del)	NC_000011.9:g.116701317_116701319del	VUS	1 lab	1f17123660
16:10214534 MISSING T>Alt too long to show for this DUP	16	10214534	10470492	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.10214535_10470492dup	VUS	1 lab	1f1d4b5c5d
19:49699821 TRPM4 C>A	19	49699821	49699821	C	A	TRPM4	c.2335C>A	NM_017636.4	NP_060106.2:p.(Pro779Thr)	NC_000019.9:g.49699821C>A	VUS	1 lab	1f1ff6cf75
6:44233262 NFKBIE G>A	6	44233262	44233262	G	A	NFKBIE	c.-179C>T	NM_004556.3	NP_004547.3:p.?	NC_000006.11:g.44233262G>A	(Likely) benign	1 lab	1f205ea4c2
X:134399760 MISSING C>Alt too long to show for this DUP	X	134399760	134753168	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.134399761_134753168dup	VUS	1 lab	1f20c1dd4d
15:93558129 CHD2 C>A	15	93558129	93558129	C	A	CHD2	c.4896C>A	NM_001271.4	NP_001262.3:p.(Phe1632Leu)	NC_000015.9:g.93558129C>A	(Likely) benign	1 lab	1f22c4835d
8:59409505 CYP7A1 C>A	8	59409505	59409505	C	A	CYP7A1	c.566G>T	NM_000780.4	NP_000771.2:p.(Gly189Val)	NC_000008.10:g.59409505C>A	VUS	1 lab	1f2450b578
2:21250720 APOB C>A	2	21250720	21250720	C	A	APOB	c.2047G>T	NM_000384.3	NP_000375.3:p.(Ala683Ser)	NC_000002.11:g.21250720C>A	VUS	1 lab	1f279b801e
2:179643946 TTN T>C	2	179643946	179643946	T	C	TTN	c.3963+10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179643946T>C	(Likely) benign	1 lab	1f2aeda902
6:35648369 MISSING A>Alt too long to show for this DUP	6	35648369	35741941	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.35648370_35741941dup	VUS	1 lab	1f2d72db51
12:21375306 SLCO1B1 G>GAA	12	21375306	21375332	G	GAA	SLCO1B1	c.1747+33_1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375331_21375332dup	(Likely) benign	1 lab	1f2de213ae
10:112571768 RBM20 GTTC>G	10	112571768	112571777	GTTC	G	RBM20	c.1881-261_1881-259del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112571775_112571777del	(Likely) benign	1 lab	1f2e00be58
3:148884898 HPS3 C>T	3	148884898	148884898	C	T	HPS3	c.2667C>T	NM_032383.5	NP_115759.2:p.(Ala889=)	NC_000003.11:g.148884898C>T	(Likely) benign	1 lab	1f2fed4201
6:75828814 COL12A1 C>A	6	75828814	75828814	C	A	COL12A1	c.7299G>T	NM_004370.6	NP_004361.3:p.(Thr2433=)	NC_000006.11:g.75828814C>A	(Likely) benign	1 lab	1f32e6471e
6:32010189 TNXB A>C	6	32010189	32010189	A	C	TNXB	c.12204+43T>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010189A>C	(Likely) benign	1 lab	1f350f64c4
2:179459378 TTN G>A	2	179459378	179459378	G	A	TTN	c.57848-5C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179459378G>A	(Likely) benign	1 lab	1f35412a34
2:73680269 ALMS1 A>T	2	73680269	73680269	A	T	ALMS1	c.6618A>T	NM_015120.4	NP_055935.4:p.(Leu2206=)	NC_000002.11:g.73680269A>T	(Likely) benign	1 lab	1f364102bc
15:63532458 MISSING C>Alt too long to show for this DUP	15	63532458	63732868	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.63532460_63732868dup	VUS	1 lab	1f39a272d4
14:23898263 MYH7 G>T	14	23898263	23898263	G	T	MYH7	c.1308C>A	NM_000257.4	NP_000248.2:p.(Phe436Leu)	NC_000014.8:g.23898263G>T	VUS	1 lab	1f3b0fd19e
1:3350229 PRDM16 C>T	1	3350229	3350229	C	T	PRDM16	c.3697-12C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350229C>T	(Likely) benign	1 lab	1f3ef7f50e
7:151478357 PRKAG2 C>T	7	151478357	151478357	C	T	PRKAG2	c.347G>A	NM_016203.4	NP_057287.2:p.(Arg116His)	NC_000007.13:g.151478357C>T	VUS	1 lab	1f4245001b
15:45402735 DUOX2 G>C	15	45402735	45402735	G	C	DUOX2	c.944-13C>G	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45402735G>C	(Likely) benign	1 lab	1f426431d7
10:88451679 LDB3 T>C	10	88451679	88451679	T	C	LDB3	c.920T>C	NM_001171610.2	NP_001165081.1:p.(Val307Ala)	NC_000010.10:g.88451679T>C	VUS	1 lab	1f43a8927c
15:85401106 ALPK3 G>A	15	85401106	85401106	G	A	ALPK3	c.3137G>A	NM_020778.5	NP_065829.4:p.(Arg1046His)	NC_000015.9:g.85401106G>A	(Likely) benign	1 lab	1f4458775c
X:49072841 CACNA1F C>T	X	49072841	49072841	C	T	CACNA1F	c.3269+1G>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49072841C>T	(Likely) pathogenic	1 lab	1f46d4a980
1:35251229 GJB3 G>A	1	35251229	35251229	G	A	GJB3	c.*53G>A	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251229G>A	(Likely) benign	1 lab	1f4882c999
2:21239302 APOB C>T	2	21239302	21239302	C	T	APOB	c.3332+9G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239302C>T	(Likely) benign	1 lab	1f4c4e769d
3:195703615 MISSING Ref too long to show for this DEL>A	3	195703615	197348575	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.195703616_197348575del	(Likely) pathogenic	1 lab	1f4eca5bbe
1:17326722 ATP13A2 CTGGG>C	1	17326722	17326726	CTGGG	C	ATP13A2	c.907+15_907+18del	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17326723_17326726del	(Likely) benign	1 lab	1f555529d8
12:7175047 C1S A>G	12	7175047	7175047	A	G	C1S	c.1167A>G	NM_201442.4	NP_958850.1:p.(Pro389=)	NC_000012.11:g.7175047A>G	(Likely) benign	1 lab	1f5a07ac57
9:27205021 TEK G>A	9	27205021	27205021	G	A	TEK	c.2322G>A	NM_000459.5	NP_000450.3:p.(Arg774=)	NC_000009.11:g.27205021G>A	(Likely) benign	1 lab	1f5d31d09e
4:100504566 MTTP G>C	4	100504566	100504566	G	C	MTTP	c.285G>C	NM_000253.4	NP_000244.2:p.(Gln95His)	NC_000004.11:g.100504566G>C	(Likely) benign	1 lab	1f61572776
2:179590564 TTN C>T	2	179590564	179590564	C	T	TTN	c.20485G>A	NM_001267550.2	NP_001254479.2:p.(Gly6829Ser)	NC_000002.11:g.179590564C>T	VUS	1 lab	1f64445ead
2:179548819 TTN G>C	2	179548819	179548819	G	C	TTN	c.32723-10C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179548819G>C	(Likely) benign	1 lab	1f65180aaf
4:114251575 ANK2 G>C	4	114251575	114251575	G	C	ANK2	c.3074G>C	NM_001148.6	NP_001139.3:p.(Gly1025Ala)	NC_000004.11:g.114251575G>C	VUS	1 lab	1f65315a4c
6:32064378 TNXB G>A	6	32064378	32064378	G	A	TNXB	c.1252C>T	NM_019105.8	NP_061978.6:p.(Arg418Cys)	NC_000006.11:g.32064378G>A	VUS	1 lab	1f69bbebe2
9:107546695 ABCA1 G>C	9	107546695	107546695	G	C	ABCA1	c.6687C>G	NM_005502.4	NP_005493.2:p.(His2229Gln)	NC_000009.11:g.107546695G>C	VUS	1 lab	1f70c5d1b7
3:38597162 SCN5A G>A	3	38597162	38597162	G	A	SCN5A	c.4527C>T	NM_198056.3	NP_932173.1:p.(Pro1509=)	NC_000003.11:g.38597162G>A	(Likely) benign	1 lab	1f7280fa69
9:137721907 COL5A1 C>T	9	137721907	137721907	C	T	COL5A1	c.5136+17C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137721907C>T	(Likely) benign	1 lab	1f75585806
9:133760677 ABL1 C>T	9	133760677	133760677	C	T	ABL1	c.3000C>T	NM_005157.6	NP_005148.2:p.(Thr1000=)	NC_000009.11:g.133760677C>T	(Likely) benign	1 lab	1f759ab890
5:133945288 SAR1B C>T	5	133945288	133945288	C	T	SAR1B	c.321G>A	NM_001033503.3	NP_001028675.1:p.(Arg107=)	NC_000005.9:g.133945288C>T	(Likely) benign	1 lab	1f78f3a78e
17:39921287 JUP G>A	17	39921287	39921287	G	A	JUP	c.942C>T	NM_002230.4	NP_002221.1:p.(Ala314=)	NC_000017.10:g.39921287G>A	(Likely) benign	1 lab	1f7960344d
12:122260850 SETD1B C>T	12	122260850	122260850	C	T	SETD1B	c.4365C>T	NM_001353345.2	NP_001340274.1:p.(Arg1455=)	NC_000012.11:g.122260850C>T	(Likely) benign	1 lab	1f7aa4b402
1:236918395 ACTN2 A>T	1	236918395	236918395	A	T	ACTN2	c.1427A>T	NM_001278344.2	NP_001265273.1:p.(Asn476Ile)	NC_000001.10:g.236918395A>T	VUS	1 lab	1f7c26a640
19:11216264 LDLR G>T	19	11216264	11216264	G	T	LDLR	c.682G>T	NM_000527.5	NP_000518.1:p.(Glu228Ter)	NC_000019.9:g.11216264G>T	(Likely) pathogenic	1 lab	1f840a679b
X:70444012 GJB1 T>A	X	70444012	70444012	T	A	GJB1	c.455T>A	NM_000166.6	NP_000157.1:p.(Val152Asp)	NC_000023.10:g.70444012T>A	(Likely) pathogenic	1 lab	1f87359caf
7:23212634 KLHL7 A>G	7	23212634	23212634	A	G	KLHL7	c.1303A>G	NM_018846.5	NP_061334.4:p.(Ile435Val)	NC_000007.13:g.23212634A>G	VUS	1 lab	1f8765443c
16:920869 LMF1 C>T	16	920869	920869	C	T	LMF1	c.693G>A	NM_001352018.2	NP_001338947.1:p.(Arg231=)	NC_000016.9:g.920869C>T	(Likely) benign	1 lab	1f87c587cf
10:90974630 LIPA C>T	10	90974630	90974630	C	T	LIPA	c.1155G>A	NM_000235.4	NP_000226.2:p.(Trp385Ter)	NC_000010.10:g.90974630C>T	(Likely) pathogenic	1 lab	1f88f2937a
11:76886504 MYO7A T>C	11	76886504	76886504	T	C	MYO7A	c.2181T>C	NM_000260.4	NP_000251.3:p.(Phe727=)	NC_000011.9:g.76886504T>C	(Likely) benign	1 lab	1f89305305
4:126372855 FAT4 A>G	4	126372855	126372855	A	G	FAT4	c.10690A>G	NM_001291303.3	NP_001278232.1:p.(Thr3564Ala)	NC_000004.11:g.126372855A>G	VUS	1 lab	1f8a5c13b6
4:114286357 ANK2 A>ATGTGTGTGTG	4	114286357	114286388	A	ATGTGTGTGTG	ANK2	c.11032+41_11032+50dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286379_114286388dup	(Likely) benign	1 lab	1f8d9b1982
9:107599706 ABCA1 T>C	9	107599706	107599706	T	C	ABCA1	c.1194+3A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599706T>C	VUS	1 lab	1f8e051e49
X:153667369 GDI1 C>G	X	153667369	153667369	C	G	GDI1	c.271C>G	NM_001493.3	NP_001484.1:p.(Leu91Val)	NC_000023.10:g.153667369C>G	VUS	1 lab	1f8e69d133
18:58039176 MC4R G>A	18	58039176	58039176	G	A	MC4R	c.407C>T	NM_005912.3	NP_005903.2:p.(Ser136Phe)	NC_000018.9:g.58039176G>A	(Likely) pathogenic	1 lab	1f91a6edaa
5:45695935 HCN1 G>C	5	45695935	45695935	G	C	HCN1	c.261C>G	NM_021072.4	NP_066550.2:p.(Pro87=)	NC_000005.9:g.45695935G>C	(Likely) benign	1 lab	1f924aa1ec
X:20194447 RPS6KA3 A>G	X	20194447	20194447	A	G	RPS6KA3	c.1023T>C	NM_004586.3	NP_004577.1:p.(His341=)	NC_000023.10:g.20194447A>G	(Likely) benign	1 lab	1f92ad713c
5:127800547 FBN2 A>G	5	127800547	127800547	A	G	FBN2	c.696T>C	NM_001999.4	NP_001990.2:p.(Ile232=)	NC_000005.9:g.127800547A>G	(Likely) benign	1 lab	1f93024eed
16:77401452 ADAMTS18 G>T	16	77401452	77401452	G	T	ADAMTS18	c.664C>A	NM_199355.4	NP_955387.1:p.(Arg222=)	NC_000016.9:g.77401452G>T	VUS	1 lab	1f93a8686d
22:50913228 SBF1 C>T	22	50913228	50913228	C	T	SBF1	c.42G>A	NM_002972.4	NP_002963.2:p.(Gly14=)	NC_000022.10:g.50913228C>T	(Likely) benign	1 lab	1f978ade0c
9:137657812 COL5A1 C>T	9	137657812	137657812	C	T	COL5A1	c.2088+232C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137657812C>T	(Likely) benign	1 lab	1f97c76dab
2:179417033 TTN A>T	2	179417033	179417033	A	T	TTN	c.90594T>A	NM_001267550.2	NP_001254479.2:p.(His30198Gln)	NC_000002.11:g.179417033A>T	VUS	1 lab	1f9ef7aac3
10:16528578 PTER C>T	10	16528578	16528578	C	T	PTER	c.660C>T	NM_030664.5	NP_109589.2:p.(Gly220=)	NC_000010.10:g.16528578C>T	(Likely) benign	1 lab	1fa16bbb8a
7:93553505 MISSING Ref too long to show for this DEL>G	7	93553505	93652973	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.93553506_93652973del	VUS	1 lab	1fa1a51c81
6:135751146 AHI1 G>A	6	135751146	135751146	G	A	AHI1	c.2374-8C>T	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135751146G>A	(Likely) benign	1 lab	1fa1fac7d9
18:25593635 CDH2 C>T	18	25593635	25593635	C	T	CDH2	c.399+12G>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25593635C>T	(Likely) benign	1 lab	1fa4bd2017
19:42482322 ATP1A3 C>T	19	42482322	42482322	C	T	ATP1A3	c.1826G>A	NM_001256214.2	NP_001243143.1:p.(Cys609Tyr)	NC_000019.9:g.42482322C>T	(Likely) pathogenic	1 lab	1fa54aa92a
11:68707205 IGHMBP2 C>T	11	68707205	68707205	C	T	IGHMBP2	c.*6C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68707205C>T	(Likely) benign	1 lab	1fa55d1d73
22:51160877 SHANK3 G>A	22	51160877	51160877	G	A	SHANK3	c.4829+12G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51160877G>A	(Likely) benign	1 lab	1fa5c0a6e5
17:48276706 COL1A1 G>T	17	48276706	48276706	G	T	COL1A1	c.370-18C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48276706G>T	(Likely) pathogenic	1 lab	1fa8da8304
1:161276117 MPZ A>C	1	161276117	161276117	A	C	MPZ	c.584+2T>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161276117A>C	(Likely) pathogenic	1 lab	1faa4e4a07
6:32010098 TNXB C>T	6	32010098	32010098	C	T	TNXB	c.12246G>A	NM_019105.8	NP_061978.6:p.(Arg4082=)	NC_000006.11:g.32010098C>T	(Likely) benign	1 lab	1fab48f5f6
2:179647140 TTN C>A	2	179647140	179647140	C	A	TTN	c.3179G>T	NM_001267550.2	NP_001254479.2:p.(Arg1060Ile)	NC_000002.11:g.179647140C>A	VUS	1 lab	1fac94aaba
17:36485774 GPR179 G>A	17	36485774	36485774	G	A	GPR179	c.3678C>T	NM_001004334.4	NP_001004334.3:p.(Pro1226=)	NC_000017.10:g.36485774G>A	(Likely) benign	1 lab	1fb6edd6a7
16:46766316 MYLK3 G>C	16	46766316	46766316	G	C	MYLK3	c.1266C>G	NM_182493.3	NP_872299.2:p.(Ala422=)	NC_000016.9:g.46766316G>C	(Likely) benign	1 lab	1fbd65ae65
7:26237494 HNRNPA2B1 GA>G	7	26237494	26237504	GA	G	HNRNPA2B1	c.7-9del	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26237504del	(Likely) benign	1 lab	1fbdc6c95f
19:11215984 LDLR C>T	19	11215984	11215984	C	T	LDLR	c.402C>T	NM_000527.5	NP_000518.1:p.(Cys134=)	NC_000019.9:g.11215984C>T	(Likely) benign	1 lab	1fbe99961c
3:193360794 OPA1 C>T	3	193360794	193360794	C	T	OPA1	c.1261C>T	NM_130837.3	NP_570850.2:p.(Arg421Ter)	NC_000003.11:g.193360794C>T	(Likely) pathogenic	1 lab	1fc2f62ddf
7:17379805 AHR A>G	7	17379805	17379805	A	G	AHR	c.2356A>G	NM_001621.5	NP_001612.1:p.(Met786Val)	NC_000007.13:g.17379805A>G	(Likely) benign	1 lab	1fc7bdd20d
9:77390956 TRPM6 G>A	9	77390956	77390956	G	A	TRPM6	c.3246C>T	NM_017662.5	NP_060132.3:p.(Asn1082=)	NC_000009.11:g.77390956G>A	(Likely) benign	1 lab	1fc90dd1a8
22:51159604 SHANK3 C>T	22	51159604	51159604	C	T	SHANK3	c.3568C>T	NM_001372044.2	NP_001358973.1:p.(Arg1190Ter)	NC_000022.10:g.51159604C>T	(Likely) pathogenic	1 lab	1fcbad6848
20:10624455 JAG1 G>A	20	10624455	10624455	G	A	JAG1	c.2429C>T	NM_000214.3	NP_000205.1:p.(Pro810Leu)	NC_000020.10:g.10624455G>A	VUS	1 lab	1fcf3ce264
6:7585882 DSP A>T	6	7585882	7585882	A	T	DSP	c.8387A>T	NM_004415.4	NP_004406.2:p.(Asp2796Val)	NC_000006.11:g.7585882A>T	VUS	1 lab	1fd15dbeaa
2:179412245 TTN C>T	2	179412245	179412245	C	T	TTN	c.86404G>A	NM_133378.4	NP_596869.4:p.(Val28802Ile)	NC_000002.11:g.179412245C>T	VUS	1 lab	1fd1cc7513
7:54184 MISSING T>Alt too long to show for this DUP	7	54184	232321	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.54185_232321dup	VUS	1 lab	1fd26c768d
11:108188253 ATM G>A	11	108188253	108188253	G	A	ATM	c.6347+5G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108188253G>A	VUS	1 lab	1fd2bf9717
6:43550182 POLH G>C	6	43550182	43550182	G	C	POLH	c.126G>C	NM_006502.3	NP_006493.1:p.(Trp42Cys)	NC_000006.11:g.43550182G>C	VUS	1 lab	1fd65a1ddb
10:61898733 ANK3 C>T	10	61898733	61898733	C	T	ANK3	c.2727G>A	NM_020987.5	NP_066267.2:p.(Ala909=)	NC_000010.10:g.61898733C>T	(Likely) benign	1 lab	1fd6baf47b
2:1500488 TPO G>C	2	1500488	1500488	G	C	TPO	c.2337G>C	NM_000547.6	NP_000538.3:p.(Gln779His)	NC_000002.11:g.1500488G>C	(Likely) pathogenic	1 lab	1fd7ee704d
1:27094447 ARID1A A>G	1	27094447	27094447	A	G	ARID1A	c.3155A>G	NM_006015.6	NP_006006.3:p.(Tyr1052Cys)	NC_000001.10:g.27094447A>G	(Likely) pathogenic	1 lab	1fd8390ebf
9:101908893 TGFBR1 T>C	9	101908893	101908893	T	C	TGFBR1	c.1255+2T>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101908893T>C	(Likely) pathogenic	1 lab	1fd916320b
15:22752398 MISSING A>Alt too long to show for this DUP	15	22752398	23082397	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752399_23082397dup	(Likely) pathogenic	1 lab	1fda2adfab
1:173800731 DARS2 G>T	1	173800731	173800731	G	T	DARS2	c.455G>T	NM_018122.5	NP_060592.2:p.(Cys152Phe)	NC_000001.10:g.173800731G>T	(Likely) pathogenic	1 lab	1fda496b2b
6:7585343 DSP G>A	6	7585343	7585343	G	A	DSP	c.7848G>A	NM_004415.4	NP_004406.2:p.(Ser2616=)	NC_000006.11:g.7585343G>A	(Likely) benign	1 lab	1fdaa23734
7:33139016 RP9 T>C	7	33139016	33139016	T	C	RP9	c.216A>G	NM_203288.2	NP_976033.1:p.(Pro72=)	NC_000007.13:g.33139016T>C	(Likely) benign	1 lab	1fdb41ce8d
8:126067855 WASHC5 G>A	8	126067855	126067855	G	A	WASHC5	c.2075C>T	NM_014846.4	NP_055661.3:p.(Thr692Met)	NC_000008.10:g.126067855G>A	VUS	1 lab	1fdb7b284d
X:70443730 GJB1 C>G	X	70443730	70443730	C	G	GJB1	c.173C>G	NM_000166.6	NP_000157.1:p.(Pro58Arg)	NC_000023.10:g.70443730C>G	(Likely) pathogenic	1 lab	1fdea18d45
X:43454722 MISSING A>Alt too long to show for this DUP	X	43454722	43772661	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.43454723_43772661dup	VUS	1 lab	1fe05caac5
3:127475697 MISSING Ref too long to show for this DEL>G	3	127475697	127588978	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.127475699_127588978del	VUS	1 lab	1fe0c0208c
3:121507159 IQCB1 T>C	3	121507159	121507159	T	C	IQCB1	c.1250A>G	NM_001023570.4	NP_001018864.2:p.(Tyr417Cys)	NC_000003.11:g.121507159T>C	VUS	1 lab	1fe7efae35
2:21255269 APOB G>A	2	21255269	21255269	G	A	APOB	c.1309C>T	NM_000384.3	NP_000375.3:p.(Arg437Cys)	NC_000002.11:g.21255269G>A	(Likely) benign	1 lab	1fe81d0f7d
4:122590883 ANXA5 TAA>T	4	122590883	122590898	TAA	T	ANXA5	c.781-6_781-5del	NM_001154.4	NP_001145.1:p.?	NC_000004.11:g.122590897_122590898del	(Likely) benign	1 lab	1fe89424fb
1:161276551 MPZ G>A	1	161276551	161276551	G	A	MPZ	c.395C>T	NM_000530.8	NP_000521.2:p.(Pro132Leu)	NC_000001.10:g.161276551G>A	(Likely) pathogenic	1 lab	1fe9f8544b
19:50783470 MYH14 C>T	19	50783470	50783470	C	T	MYH14	c.4138-18C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50783470C>T	(Likely) benign	1 lab	1fea39dbce
2:189863910 COL3A1 A>G	2	189863910	189863910	A	G	COL3A1	c.2023-101A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863910A>G	(Likely) benign	1 lab	1fec354c23
2:179470359 TTN C>G	2	179470359	179470359	C	G	TTN	c.45959G>C	NM_133378.4	NP_596869.4:p.(Ser15320Thr)	NC_000002.11:g.179470359C>G	VUS	1 lab	1fefebeabd
2:21225549 APOB G>A	2	21225549	21225549	G	A	APOB	c.12745C>T	NM_000384.3	NP_000375.3:p.(Leu4249=)	NC_000002.11:g.21225549G>A	(Likely) benign	1 lab	1ff3afe486
16:1003974 LMF1 T>C	16	1003974	1003974	T	C	LMF1	c.-52+383A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003974T>C	(Likely) benign	1 lab	1ff3b38ad8
5:148424087 SH3TC2 GTACCA>G	5	148424087	148424096	GTACCA	G	SH3TC2	c.385+4_385+8del	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148424092_148424096del	(Likely) benign	1 lab	1ff5566a5c
2:220079742 ABCB6 C>G	2	220079742	220079742	C	G	ABCB6	c.1217G>C	NM_005689.4	NP_005680.1:p.(Ser406Thr)	NC_000002.11:g.220079742C>G	(Likely) benign	1 lab	1ff6108ac2
8:59409659 CYP7A1 A>C	8	59409659	59409659	A	C	CYP7A1	c.412T>G	NM_000780.4	NP_000771.2:p.(Leu138Val)	NC_000008.10:g.59409659A>C	VUS	1 lab	1ff6be54a7
12:125296474 SCARB1 G>A	12	125296474	125296474	G	A	SCARB1	c.668C>T	NM_005505.5	NP_005496.4:p.(Thr223Met)	NC_000012.11:g.125296474G>A	VUS	1 lab	1ff7fb2929
2:223632110 MISSING C>Alt too long to show for this DUP	2	223632110	223848830	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.223632112_223848830dup	VUS	1 lab	1ff9e0f087
12:2760722 CACNA1C G>A	12	2760722	2760722	G	A	CACNA1C	c.4090-84G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2760722G>A	(Likely) benign	1 lab	1ff9f2b7c9
11:47363567 MYBPC3 G>A	11	47363567	47363567	G	A	MYBPC3	c.1765C>T	NM_000256.3	NP_000247.2:p.(Arg589Cys)	NC_000011.9:g.47363567G>A	VUS	1 lab	1ffa5f0760
16:57016091 CETP C>T	16	57016091	57016091	C	T	CETP	c.1263C>T	NM_000078.3	NP_000069.2:p.(Ser421=)	NC_000016.9:g.57016091C>T	(Likely) benign	1 lab	2002e387fb
8:19796607 LPL C>G	8	19796607	19796607	C	G	LPL				NC_000008.10:g.19796607C>G	VUS	1 lab	2003477e59
1:237806719 RYR2 C>T	1	237806719	237806719	C	T	RYR2	c.7314C>T	NM_001035.3	NP_001026.2:p.(Ile2438=)	NC_000001.10:g.237806719C>T	(Likely) benign	1 lab	200a22ef93
10:68280484 CTNNA3 C>A	10	68280484	68280484	C	A	CTNNA3	c.1422G>T	NM_013266.4	NP_037398.2:p.(Ala474=)	NC_000010.10:g.68280484C>A	(Likely) benign	1 lab	200b6c98da
19:11238613 LDLR G>A	19	11238613	11238613	G	A	LDLR	c.2312-71G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238613G>A	VUS	1 lab	200bd6da95
6:76660818 IMPG1 A>C	6	76660818	76660818	A	C	IMPG1	c.1292-7T>G	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76660818A>C	(Likely) benign	1 lab	200bd6e427
5:127419748 SLC12A2 G>A	5	127419748	127419748	G	A	SLC12A2	c.102G>A	NM_001046.3	NP_001037.1:p.(Leu34=)	NC_000005.9:g.127419748G>A	(Likely) benign	1 lab	200d1d30ec
7:150642533 KCNH2 G>A	7	150642533	150642533	G	A	KCNH2	c.3400C>T	NM_000238.4	NP_000229.1:p.(Arg1134Ter)	NC_000007.13:g.150642533G>A	VUS	1 lab	201058db9f
2:179611741 TTN G>A	2	179611741	179611741	G	A	TTN	c.10360+6110C>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179611741G>A	(Likely) benign	1 lab	20109b3499
1:116268178 CASQ2 G>GAAAAAAA	1	116268178	116268201	G	GAAAAAAA	CASQ2	c.738-11_738-5dup	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268195_116268201dup	(Likely) benign	1 lab	2010d7ae53
2:21251367 APOB G>A	2	21251367	21251367	G	A	APOB	c.1661C>T	NM_000384.3	NP_000375.3:p.(Pro554Leu)	NC_000002.11:g.21251367G>A	(Likely) benign	1 lab	2010dcd99a
10:112595416 RBM20 G>A	10	112595416	112595416	G	A	RBM20	c.3574-210G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112595416G>A	(Likely) benign	1 lab	20166c37f2
19:55284976 KIR2DL1 A>G	19	55284976	55284976	A	G	KIR2DL1	c.262A>G	NM_014218.3	NP_055033.2:p.(Ser88Gly)	NC_000019.9:g.55284976A>G	(Likely) benign	1 lab	20171a4d07
2:179442872 TTN C>T	2	179442872	179442872	C	T	TTN	c.68370G>A	NM_001267550.2	NP_001254479.2:p.(Trp22790Ter)	NC_000002.11:g.179442872C>T	(Likely) pathogenic	1 lab	201a8fc7d9
1:106025203 MISSING Ref too long to show for this DEL>A	1	106025203	107841017	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.106025206_107841017del	(Likely) pathogenic	1 lab	201ccc859d
4:15572060 CC2D2A G>T	4	15572060	15572060	G	T	CC2D2A	c.3535G>T	NM_001080522.2	NP_001073991.2:p.(Glu1179Ter)	NC_000004.11:g.15572060G>T	(Likely) pathogenic	1 lab	201e6967d8
8:42828427 HOOK3 A>G	8	42828427	42828427	A	G	HOOK3	c.1123-5A>G	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42828427A>G	(Likely) benign	1 lab	201ea3eb43
6:157320592 ARID1B Ref too long to show for this DEL>C	6	157320592	157393438	Ref too long to show for this DEL	C	ARID1B	c.2247+63885_2248-12358del	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157320595_157393438del	VUS	1 lab	20228c4a08
19:58918620 MISSING C>Alt too long to show for this DUP	19	58918620	58956888	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.58918621_58956888dup	VUS	1 lab	20238421f6
16:15841287 MYH11 C>G	16	15841287	15841287	C	G	MYH11	c.2411+140G>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15841287C>G	(Likely) benign	1 lab	2026d3702a
3:174015399 MISSING C>Alt too long to show for this DUP	3	174015399	174648847	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.174015400_174648847dup	(Likely) pathogenic	1 lab	202b4e522c
16:984084 LMF1 G>A	16	984084	984084	G	A	LMF1	c.22C>T	NM_001352018.2	NP_001338947.1:p.(Arg8Cys)	NC_000016.9:g.984084G>A	(Likely) benign	1 lab	202d138f0b
3:48507667 SHISA5 T>C	3	48507667	48507667	T	C	SHISA5				NC_000003.11:g.48507667T>C	(Likely) benign	1 lab	202eddf044
17:6358979 PITPNM3 G>GAGTGC	17	6358979	6358982	G	GAGTGC	PITPNM3	c.2620-17_2620-16insGCACT	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6358981_6358982insTGCAG	(Likely) benign	1 lab	20326aa1c7
2:219678851 CYP27A1 C>G	2	219678851	219678851	C	G	CYP27A1	c.1125C>G	NM_000784.4	NP_000775.1:p.(Pro375=)	NC_000002.11:g.219678851C>G	(Likely) benign	1 lab	2034e86f01
8:133953726 TG TC>T	8	133953726	133953727	TC	T	TG	c.5173del	NM_003235.5	NP_003226.4:p.(Leu1725PhefsTer28)	NC_000008.10:g.133953727del	(Likely) pathogenic	1 lab	20382110bd
2:179471925 TTN C>CAATG	2	179471925	179471930	C	CAATG	TTN	c.45696_45699dup	NM_133378.4	NP_596869.4:p.(Glu15234HisfsTer2)	NC_000002.11:g.179471927_179471930dup	(Likely) pathogenic	1 lab	2039e6ecef
16:46741626 MYLK3 G>T	16	46741626	46741626	G	T	MYLK3	c.2450C>A	NM_182493.3	NP_872299.2:p.(Thr817Asn)	NC_000016.9:g.46741626G>T	(Likely) benign	1 lab	203e515c55
15:58838165 LIPC G>T	15	58838165	58838165	G	T	LIPC	c.799G>T	NM_000236.3	NP_000227.2:p.(Gly267Cys)	NC_000015.9:g.58838165G>T	VUS	1 lab	203fe9f6c1
11:65314028 LTBP3 G>A	11	65314028	65314028	G	A	LTBP3	c.2238C>T	NM_001130144.3	NP_001123616.1:p.(Asn746=)	NC_000011.9:g.65314028G>A	(Likely) benign	1 lab	204036ed53
2:170059247 LRP2 C>T	2	170059247	170059247	C	T	LRP2	c.8209+19G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170059247C>T	(Likely) benign	1 lab	204335c015
5:133948450 SAR1B AAT>A	5	133948450	133948453	AAT	A	SAR1B	c.179-6_179-5del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948452_133948453del	(Likely) benign	1 lab	2043504101
2:44065083 ABCG5 C>A	2	44065083	44065083	C	A	ABCG5	c.155G>T	NM_022436.3	NP_071881.1:p.(Arg52Met)	NC_000002.11:g.44065083C>A	VUS	1 lab	20462892fb
11:34935835 PDHX A>Alt too long to show for this DUP	11	34935835	34943747	A	Alt too long to show for this DUP	PDHX				NC_000011.9:g.34935836_34943747dup	VUS	1 lab	2047b7a4a0
8:91548551 MISSING Ref too long to show for this DEL>A	8	91548551	91620778	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.91548553_91620778del	VUS	1 lab	2048e28f91
X:149535802 MAMLD1 Ref too long to show for this DEL>A	X	149535802	149549821	Ref too long to show for this DEL	A	MAMLD1	c.-64+4006_-64+18024del	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149535803_149549821del	VUS	1 lab	204a291bbb
15:31294232 TRPM1 C>T	15	31294232	31294232	C	T	TRPM1	c.4722G>A	NM_001252020.2	NP_001238949.1:p.(Leu1574=)	NC_000015.9:g.31294232C>T	(Likely) benign	1 lab	204b24ae54
4:114276825 ANK2 GAAGGTC>G	4	114276825	114276833	GAAGGTC	G	ANK2	c.7054_7059del	NM_001148.6	NP_001139.3:p.(Gly2352_Gln2353del)	NC_000004.11:g.114276828_114276833del	VUS	1 lab	204bf7828b
9:120409644 MISSING C>Alt too long to show for this DUP	9	120409644	120503943	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.120409646_120503943dup	VUS	1 lab	204cea7094
14:23895231 MYH7 T>C	14	23895231	23895231	T	C	MYH7	c.2104A>G	NM_000257.4	NP_000248.2:p.(Ile702Val)	NC_000014.8:g.23895231T>C	VUS	1 lab	204d02ae54
2:238277670 COL6A3 T>A	2	238277670	238277670	T	A	COL6A3	c.4436A>T	NM_004369.4	NP_004360.2:p.(Gln1479Leu)	NC_000002.11:g.238277670T>A	VUS	1 lab	204d52d0c1
22:31330823 MORC2 T>G	22	31330823	31330823	T	G	MORC2	c.1952A>C	NM_014941.3	NP_055756.1:p.(Lys651Thr)	NC_000022.10:g.31330823T>G	VUS	1 lab	204e0a5974
15:58834062 LIPC G>A	15	58834062	58834062	G	A	LIPC	c.352G>A	NM_000236.3	NP_000227.2:p.(Gly118Arg)	NC_000015.9:g.58834062G>A	VUS	1 lab	204f9fe2e5
14:96464841 MISSING Ref too long to show for this DEL>T	14	96464841	96532029	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.96464844_96532029del	VUS	1 lab	20515cc7ad
15:23892311 MAGEL2 G>T	15	23892311	23892311	G	T	MAGEL2	c.579C>A	NM_019066.5	NP_061939.3:p.(Pro193=)	NC_000015.9:g.23892311G>T	(Likely) benign	1 lab	20526908dc
11:68675744 IGHMBP2 C>T	11	68675744	68675744	C	T	IGHMBP2	c.388C>T	NM_002180.3	NP_002171.2:p.(Arg130Ter)	NC_000011.9:g.68675744C>T	(Likely) pathogenic	1 lab	20534c5394
3:123427100 MYLK C>T	3	123427100	123427100	C	T	MYLK	c.2141-250G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123427100C>T	(Likely) benign	1 lab	205b5d085b
21:33038748 SOD1 C>T	21	33038748	33038748	C	T	SOD1	c.170-14C>T	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33038748C>T	(Likely) benign	1 lab	205ee7a8fd
1:103379260 COL11A1 T>A	1	103379260	103379260	T	A	COL11A1	c.4015-14A>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103379260T>A	(Likely) benign	1 lab	205efd795c
2:179472615 TTN T>G	2	179472615	179472615	T	G	TTN	c.45195A>C	NM_133378.4	NP_596869.4:p.(Glu15065Asp)	NC_000002.11:g.179472615T>G	VUS	1 lab	20620c503d
2:179470428 TTN G>A	2	179470428	179470428	G	A	TTN	c.53594C>T	NM_001267550.2	NP_001254479.2:p.(Ser17865Phe)	NC_000002.11:g.179470428G>A	VUS	1 lab	20652d12a9
9:107546579 ABCA1 CG>C	9	107546579	107546580	CG	C	ABCA1	c.*16del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546580del	(Likely) benign	1 lab	2065e0712d
12:21327650 SLCO1B1 G>A	12	21327650	21327650	G	A	SLCO1B1	c.359+7G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327650G>A	(Likely) benign	1 lab	206727e674
2:179397249 TTN C>T	2	179397249	179397249	C	T	TTN	c.104093G>A	NM_001267550.2	NP_001254479.2:p.(Arg34698Gln)	NC_000002.11:g.179397249C>T	VUS	1 lab	2067b01ca9
X:38180270 RPGR A>G	X	38180270	38180270	A	G	RPGR	c.310+10T>C	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38180270A>G	(Likely) benign	1 lab	206824c1c6
16:57938717 CNGB1 G>A	16	57938717	57938717	G	A	CNGB1	c.2555C>T	NM_001297.5	NP_001288.3:p.(Pro852Leu)	NC_000016.9:g.57938717G>A	VUS	1 lab	20693bf528
18:8748540 MTCL1 Ref too long to show for this DEL>G	18	8748540	8772823	Ref too long to show for this DEL	G	MTCL1	c.1437+28048_1438-5008del	NM_001395333.1	NP_001382262.1:p.?	NC_000018.9:g.8748542_8772823del	VUS	1 lab	20699cadde
4:106395161 PPA2 G>A	4	106395161	106395161	G	A	PPA2	c.47C>T	NM_176869.3	NP_789845.1:p.(Ala16Val)	NC_000004.11:g.106395161G>A	VUS	1 lab	206a085d4d
15:93543766 CHD2 C>T	15	93543766	93543766	C	T	CHD2	c.4033C>T	NM_001271.4	NP_001262.3:p.(Arg1345Trp)	NC_000015.9:g.93543766C>T	VUS	1 lab	206b2c7e7f
1:35251161 GJB3 C>T	1	35251161	35251161	C	T	GJB3	c.798C>T	NM_024009.3	NP_076872.1:p.(Asn266=)	NC_000001.10:g.35251161C>T	(Likely) benign	1 lab	206edf2861
9:126231883 DENND1A Ref too long to show for this DEL>A	9	126231883	126280609	Ref too long to show for this DEL	A	DENND1A	c.993+39240_994-11708del	NM_001352964.2	NP_001339893.1:p.?	NC_000009.11:g.126231884_126280609del	VUS	1 lab	20731a2c6a
3:189838142 P3H2 G>A	3	189838142	189838142	G	A	P3H2	c.379C>T	NM_018192.4	NP_060662.2:p.(Arg127Cys)	NC_000003.11:g.189838142G>A	(Likely) benign	1 lab	2076e23acf
19:11231295 LDLR T>C	19	11231295	11231295	T	C	LDLR	c.2140+97T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231295T>C	(Likely) benign	1 lab	207cfb64a0
11:47356126 MYBPC3 T>A	11	47356126	47356126	T	A	MYBPC3	c.2905+467A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356126T>A	(Likely) benign	1 lab	207e6f9dad
15:58840450 LIPC A>C	15	58840450	58840450	A	C	LIPC	c.809-79A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840450A>C	(Likely) benign	1 lab	207f9bc12b
2:21231523 APOB T>C	2	21231523	21231523	T	C	APOB	c.8217A>G	NM_000384.3	NP_000375.3:p.(Pro2739=)	NC_000002.11:g.21231523T>C	(Likely) benign	1 lab	20803cf0ac
15:28116337 OCA2 G>A	15	28116337	28116337	G	A	OCA2	c.2207C>T	NM_000275.3	NP_000266.2:p.(Ser736Leu)	NC_000015.9:g.28116337G>A	(Likely) pathogenic	1 lab	2081b5c91b
21:27326926 APP G>A	21	27326926	27326926	G	A	APP	c.1665C>T	NM_000484.4	NP_000475.1:p.(Ala555=)	NC_000021.8:g.27326926G>A	(Likely) benign	1 lab	208acf7e88
6:111498785 SLC16A10 A>G	6	111498785	111498785	A	G	SLC16A10	c.859A>G	NM_018593.5	NP_061063.2:p.(Ile287Val)	NC_000006.11:g.111498785A>G	(Likely) benign	1 lab	208f13d059
10:135439755 FRG2B G>A	10	135439755	135439755	G	A	FRG2B	c.231C>T	NM_001080998.2	NP_001074467.1:p.(Ala77=)	NC_000010.10:g.135439755G>A	(Likely) benign	1 lab	208f7a79fd
12:48398036 COL2A1 A>T	12	48398036	48398036	A	T	COL2A1	c.69T>A	NM_001844.5	NP_001835.3:p.(Cys23Ter)	NC_000012.11:g.48398036A>T	(Likely) pathogenic	1 lab	20909896d8
2:1440088 TPO G>C	2	1440088	1440088	G	C	TPO	c.414G>C	NM_001206744.2	NP_001193673.1:p.(Leu138=)	NC_000002.11:g.1440088G>C	(Likely) benign	1 lab	20949c257c
10:112559603 RBM20 A>G	10	112559603	112559603	A	G	RBM20	c.1727A>G	NM_001134363.3	NP_001127835.2:p.(Glu576Gly)	NC_000010.10:g.112559603A>G	VUS	1 lab	20960de694
14:76286365 TTLL5 T>C	14	76286365	76286365	T	C	TTLL5	c.3187T>C	NM_015072.5	NP_055887.3:p.(Leu1063=)	NC_000014.8:g.76286365T>C	(Likely) benign	1 lab	209be0e154
9:140968475 CACNA1B T>C	9	140968475	140968475	T	C	CACNA1B	c.4814T>C	NM_000718.4	NP_000709.1:p.(Leu1605Pro)	NC_000009.11:g.140968475T>C	VUS	1 lab	209daccc77
6:16146902 MYLIP G>C	6	16146902	16146902	G	C	MYLIP	c.1258G>C	NM_013262.4	NP_037394.2:p.(Val420Leu)	NC_000006.11:g.16146902G>C	VUS	1 lab	209f47a042
15:60653978 ANXA2 Ref too long to show for this DEL>A	15	60653978	60685932	Ref too long to show for this DEL	A	ANXA2	c.-12+4211_244-726del	NM_004039.3	NP_004030.1:p.?	NC_000015.9:g.60653980_60685932del	VUS	1 lab	20a0270095
8:158047 MISSING Ref too long to show for this DEL>C	8	158047	1262408	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158048_1262408del	VUS	1 lab	20a1ba077e
3:20082004 KAT2B G>A	3	20082004	20082004	G	A	KAT2B	c.35G>A	NM_003884.5	NP_003875.3:p.(Cys12Tyr)	NC_000003.11:g.20082004G>A	(Likely) benign	1 lab	20a2c07335
13:19853292 MISSING T>Alt too long to show for this DUP	13	19853292	20066354	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.19853295_20066354dup	VUS	1 lab	20a7411f45
16:88804765 PIEZO1 T>C	16	88804765	88804765	T	C	PIEZO1	c.718A>G	NM_001142864.4	NP_001136336.2:p.(Ile240Val)	NC_000016.9:g.88804765T>C	(Likely) benign	1 lab	20ac9c14b3
X:57650400 MISSING A>Alt too long to show for this DUP	X	57650400	58507425	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.57650402_58507425dup	VUS	1 lab	20ae5ea71f
8:30921812 WRN C>G	8	30921812	30921812	C	G	WRN	c.217C>G	NM_000553.6	NP_000544.2:p.(Leu73Val)	NC_000008.10:g.30921812C>G	VUS	1 lab	20b28de92c
6:75875241 COL12A1 C>T	6	75875241	75875241	C	T	COL12A1	c.2965G>A	NM_004370.6	NP_004361.3:p.(Gly989Arg)	NC_000006.11:g.75875241C>T	(Likely) benign	1 lab	20b3a8e4d4
7:30668214 GARS1 G>C	7	30668214	30668214	G	C	GARS1	c.1738G>C	NM_002047.4	NP_002038.2:p.(Gly580Arg)	NC_000007.13:g.30668214G>C	(Likely) pathogenic	1 lab	20b3c255e9
11:47358275 MYBPC3 C>T	11	47358275	47358275	C	T	MYBPC3	c.2602+667G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358275C>T	(Likely) benign	1 lab	20b584a54a
3:179123091 GNB4 T>C	3	179123091	179123091	T	C	GNB4	c.803A>G	NM_021629.4	NP_067642.1:p.(Asn268Ser)	NC_000003.11:g.179123091T>C	VUS	1 lab	20b59e2b6c
1:2160306 SKI G>T	1	2160306	2160306	G	T	SKI	c.101G>T	NM_003036.4	NP_003027.1:p.(Gly34Val)	NC_000001.10:g.2160306G>T	(Likely) pathogenic	1 lab	20b74df293
19:11094931 SMARCA4 C>T	19	11094931	11094931	C	T	SMARCA4	c.104C>T	NM_001128844.3	NP_001122316.1:p.(Ser35Leu)	NC_000019.9:g.11094931C>T	VUS	1 lab	20be9f033c
15:48767120 FBN1 G>A	15	48767120	48767120	G	A	FBN1	c.3965-273C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48767120G>A	(Likely) benign	1 lab	20bf6a819d
2:179417951 TTN A>G	2	179417951	179417951	A	G	TTN	c.89676T>C	NM_001267550.2	NP_001254479.2:p.(Asp29892=)	NC_000002.11:g.179417951A>G	(Likely) benign	1 lab	20c11a6966
22:42456271 NAGA T>G	22	42456271	42456271	T	G	NAGA	c.*12A>C	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42456271T>G	(Likely) benign	1 lab	20c468c908
X:151757125 MISSING A>Alt too long to show for this DUP	X	151757125	151911530	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151757126_151911530dup	VUS	1 lab	20c87b181e
4:1206816 CTBP1 G>A	4	1206816	1206816	G	A	CTBP1	c.991C>T	NM_001012614.2	NP_001012632.1:p.(Arg331Trp)	NC_000004.11:g.1206816G>A	(Likely) pathogenic	1 lab	20c8e5c237
14:62328860 MISSING T>Alt too long to show for this DUP	14	62328860	62750671	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.62328862_62750671dup	VUS	1 lab	20cb48511e
8:19813610 LPL T>C	8	19813610	19813610	T	C	LPL	c.1018+16T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813610T>C	(Likely) benign	1 lab	20ccbf82e6
9:20982399 FOCAD T>G	9	20982399	20982399	T	G	FOCAD	c.4682T>G	NM_017794.5	NP_060264.4:p.(Leu1561Ter)	NC_000009.11:g.20982399T>G	(Likely) pathogenic	1 lab	20d06d5239
3:38593004 SCN5A G>A	3	38593004	38593004	G	A	SCN5A	c.4859C>T	NM_001099404.2	NP_001092874.1:p.(Thr1620Met)	NC_000003.11:g.38593004G>A	VUS	1 lab	20d37b0362
8:19796996 LPL CCA>C	8	19796996	19796998	CCA	C	LPL	c.46_47del	NM_000237.3	NP_000228.1:p.(Gln16GlufsTer24)	NC_000008.10:g.19796997_19796998del	(Likely) pathogenic	1 lab	20d51d9de5
10:46321554 AGAP4 C>T	10	46321554	46321554	C	T	AGAP4	c.1870G>A	NM_001276343.2	NP_001263272.2:p.(Gly624Ser)	NC_000010.10:g.46321554C>T	(Likely) benign	1 lab	20d5b1711b
8:59410970 CYP7A1 G>A	8	59410970	59410970	G	A	CYP7A1	c.139C>T	NM_000780.4	NP_000771.2:p.(Gln47Ter)	NC_000008.10:g.59410970G>A	(Likely) pathogenic	1 lab	20daa40dd2
15:63353144 TPM1 C>T	15	63353144	63353144	C	T	TPM1	c.563+6C>T	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63353144C>T	(Likely) benign	1 lab	20dc9ceb2d
2:44059163 ABCG5 A>G	2	44059163	44059163	A	G	ABCG5	c.325T>C	NM_022436.3	NP_071881.1:p.(Phe109Leu)	NC_000002.11:g.44059163A>G	(Likely) benign	1 lab	20de2914b1
1:12056326 MFN2 A>C	1	12056326	12056326	A	C	MFN2	c.425A>C	NM_014874.4	NP_055689.1:p.(His142Pro)	NC_000001.10:g.12056326A>C	(Likely) benign	1 lab	20e53cb438
14:23902757 MYH7 T>C	14	23902757	23902757	T	C	MYH7	c.185A>G	NM_000257.4	NP_000248.2:p.(Glu62Gly)	NC_000014.8:g.23902757T>C	VUS	1 lab	20e56b6f11
3:53269028 TKT G>T	3	53269028	53269028	G	T	TKT	c.624C>A	NM_001258028.2	NP_001244957.1:p.(Asp208Glu)	NC_000003.11:g.53269028G>T	(Likely) benign	1 lab	20e6d9fa46
2:220075850 ABCB6 C>T	2	220075850	220075850	C	T	ABCB6	c.1969-20G>A	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220075850C>T	(Likely) benign	1 lab	20e8a9e093
1:55525722 PCSK9 G>A	1	55525722	55525722	G	A	PCSK9	c.1681+386G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525722G>A	(Likely) benign	1 lab	20e9e91dee
15:23890489 MAGEL2 G>T	15	23890489	23890489	G	T	MAGEL2	c.2401C>A	NM_019066.5	NP_061939.3:p.(Leu801Met)	NC_000015.9:g.23890489G>T	(Likely) benign	1 lab	20ebddbd4c
8:59409486 CYP7A1 C>T	8	59409486	59409486	C	T	CYP7A1	c.585G>A	NM_000780.4	NP_000771.2:p.(Arg195=)	NC_000008.10:g.59409486C>T	(Likely) benign	1 lab	20ed53050d
16:89985940 MC1R G>A	16	89985940	89985940	G	A	MC1R	c.274G>A	NM_002386.4	NP_002377.4:p.(Val92Met)	NC_000016.9:g.89985940G>A	(Likely) benign	1 lab	20edde61a8
2:21235299 APOB C>T	2	21235299	21235299	C	T	APOB	c.4441G>A	NM_000384.3	NP_000375.3:p.(Val1481Ile)	NC_000002.11:g.21235299C>T	VUS	1 lab	20ef8dd618
1:201009025 CACNA1S C>T	1	201009025	201009025	C	T	CACNA1S	c.5556G>A	NM_000069.3	NP_000060.2:p.(Gly1852=)	NC_000001.10:g.201009025C>T	(Likely) benign	1 lab	20efa61c66
16:57003379 CETP C>T	16	57003379	57003379	C	T	CETP	c.315C>T	NM_000078.3	NP_000069.2:p.(Asn105=)	NC_000016.9:g.57003379C>T	(Likely) benign	1 lab	20f049f17f
X:118603747 SLC25A5 A>T	X	118603747	118603747	A	T	SLC25A5	c.235A>T	NM_001152.5	NP_001143.2:p.(Ile79Phe)	NC_000023.10:g.118603747A>T	(Likely) benign	1 lab	20f14bd091
12:105514912 WASHC4 GT>G	12	105514912	105514916	GT	G	WASHC4	c.599del	NM_015275.3	NP_056090.1:p.(Leu200CysfsTer14)	NC_000012.11:g.105514916del	(Likely) pathogenic	1 lab	20f8057382
19:17061140 CPAMD8 Ref too long to show for this DEL>A	19	17061140	17099639	Ref too long to show for this DEL	A	CPAMD8	c.1395+815_2508+1638del	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17061142_17099639del	VUS	1 lab	20fb616df4
1:1371459 VWA1 A>G	1	1371459	1371459	A	G	VWA1	c.73+258A>G	NM_022834.5	NP_073745.2:p.?	NC_000001.10:g.1371459A>G	(Likely) benign	1 lab	20fbf50198
19:11242005 LDLR A>G	19	11242005	11242005	A	G	LDLR	c.*13A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242005A>G	(Likely) benign	1 lab	20fca13bc5
19:11210931 LDLR T>G	19	11210931	11210931	T	G	LDLR	c.100T>G	NM_000527.5	NP_000518.1:p.(Cys34Gly)	NC_000019.9:g.11210931T>G	(Likely) pathogenic	1 lab	2100921d73
9:107568667 ABCA1 G>A	9	107568667	107568667	G	A	ABCA1	c.4319C>T	NM_005502.4	NP_005493.2:p.(Pro1440Leu)	NC_000009.11:g.107568667G>A	(Likely) benign	1 lab	210335e877
6:110081557 FIG4 T>C	6	110081557	110081557	T	C	FIG4	c.1242T>C	NM_014845.6	NP_055660.1:p.(Ile414=)	NC_000006.11:g.110081557T>C	(Likely) benign	1 lab	21069c72a4
11:19204285 CSRP3 C>T	11	19204285	19204285	C	T	CSRP3	c.517G>A	NM_003476.5	NP_003467.1:p.(Ala173Thr)	NC_000011.9:g.19204285C>T	VUS	1 lab	2106a4d47a
11:903781 CHID1 C>CA	11	903781	903792	C	CA	CHID1	c.112-671dup	NM_001142675.2	NP_001136147.1:p.?	NC_000011.9:g.903792dup	(Likely) benign	1 lab	21074705e5
19:55316375 KIR2DL4 C>G	19	55316375	55316375	C	G	KIR2DL4	c.204C>G	NM_001080772.2	NP_001074241.1:p.(Val68=)	NC_000019.9:g.55316375C>G	(Likely) benign	1 lab	21088eb9d0
2:200137047 SATB2 C>CG	2	200137047	200137049	C	CG	SATB2	c.2088dup	NM_001172509.2	NP_001165980.1:p.(Glu697ArgfsTer20)	NC_000002.11:g.200137049dup	(Likely) pathogenic	1 lab	21096d25b9
22:24109747 CHCHD10 C>A	22	24109747	24109747	C	A	CHCHD10	c.75G>T	NM_001301339.2	NP_001288268.1:p.(Ala25=)	NC_000022.10:g.24109747C>A	(Likely) benign	1 lab	210d8e12f4
3:108102578 MYH15 T>TA	3	108102578	108102579	T	TA	MYH15	c.5692-3dup	NM_014981.2	NP_055796.1:p.?	NC_000003.11:g.108102579dup	(Likely) benign	1 lab	210ed96055
17:59761166 BRIP1 C>CA	17	59761166	59761167	C	CA	BRIP1	c.3240dup	NM_032043.3	NP_114432.2:p.(Ala1081CysfsTer5)	NC_000017.10:g.59761167dup	VUS	1 lab	210f554728
1:92733511 GLMN A>G	1	92733511	92733511	A	G	GLMN	c.1057T>C	NM_053274.3	NP_444504.1:p.(Tyr353His)	NC_000001.10:g.92733511A>G	(Likely) benign	1 lab	2111a4c33b
15:34528418 SLC12A6 A>G	15	34528418	34528418	A	G	SLC12A6	c.3016-18T>C	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34528418A>G	(Likely) benign	1 lab	211568f00a
2:179400937 TTN C>T	2	179400937	179400937	C	T	TTN	c.100537G>A	NM_001267550.2	NP_001254479.2:p.(Ala33513Thr)	NC_000002.11:g.179400937C>T	VUS	1 lab	2118834b9f
2:179605470 TTN C>A	2	179605470	179605470	C	A	TTN	c.12490G>T	NM_001267550.2	NP_001254479.2:p.(Glu4164Ter)	NC_000002.11:g.179605470C>A	(Likely) pathogenic	1 lab	2119edb9b6
9:33124812 MISSING G>Alt too long to show for this DUP	9	33124812	33315051	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.33124815_33315051dup	(Likely) pathogenic	1 lab	211a30d442
2:198266611 SF3B1 C>T	2	198266611	198266611	C	T	SF3B1	c.2225G>A	NM_012433.4	NP_036565.2:p.(Gly742Asp)	NC_000002.11:g.198266611C>T	VUS	1 lab	211b6f076e
19:42794658 CIC G>A	19	42794658	42794658	G	A	CIC	c.1738G>A	NM_015125.5	NP_055940.3:p.(Gly580Ser)	NC_000019.9:g.42794658G>A	VUS	1 lab	211c2a764c
15:85383967 ALPK3 C>T	15	85383967	85383967	C	T	ALPK3	c.1457C>T	NM_020778.5	NP_065829.4:p.(Pro486Leu)	NC_000015.9:g.85383967C>T	VUS	1 lab	211cdc3836
14:23840759 MISSING A>Alt too long to show for this DUP	14	23840759	23958861	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.23840761_23958861dup	VUS	1 lab	211cf5b085
9:139327573 INPP5E T>TTCCAGCCGCGCCCACCCC	9	139327573	139327607	T	TTCCAGCCGCGCCCACCCC	INPP5E	c.1159+16_1159+33dup	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327590_139327607dup	(Likely) benign	1 lab	2120017836
2:179403797 TTN TGTG>T	2	179403797	179403806	TGTG	T	TTN	c.98862_98864del	NM_001267550.2	NP_001254479.2:p.(Thr32955del)	NC_000002.11:g.179403804_179403806del	VUS	1 lab	2124958e00
15:66995886 SMAD6 G>A	15	66995886	66995886	G	A	SMAD6	c.290G>A	NM_005585.5	NP_005576.3:p.(Gly97Glu)	NC_000015.9:g.66995886G>A	(Likely) benign	1 lab	21258d5fba
3:175044853 NAALADL2 Ref too long to show for this DEL>T	3	175044853	175210677	Ref too long to show for this DEL	T	NAALADL2	c.1090+2740_1653+21131del	NM_207015.3	NP_996898.2:p.?	NC_000003.11:g.175044854_175210677del	VUS	1 lab	2126201f26
1:23801434 MISSING G>Alt too long to show for this DUP	1	23801434	23871329	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.23801435_23871329dup	(Likely) pathogenic	1 lab	212af7d6e7
4:338200 ZNF141 G>C	4	338200	338200	G	C	ZNF141	c.207G>C	NM_003441.4	NP_003432.1:p.(Lys69Asn)	NC_000004.11:g.338200G>C	(Likely) benign	1 lab	212b364916
9:98044088 MISSING A>Alt too long to show for this DUP	9	98044088	98253455	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.98044091_98253455dup	VUS	1 lab	2132636d0c
11:116707805 APOA1 G>C	11	116707805	116707805	G	C	APOA1	c.112C>G	NM_001318017.2	NP_001304946.1:p.(Leu38Val)	NC_000011.9:g.116707805G>C	(Likely) benign	1 lab	213422e34b
8:19816826 LPL C>T	8	19816826	19816826	C	T	LPL	c.1074C>T	NM_000237.3	NP_000228.1:p.(Thr358=)	NC_000008.10:g.19816826C>T	(Likely) benign	1 lab	2134bb9375
X:99933584 SYTL4 G>A	X	99933584	99933584	G	A	SYTL4	c.1671C>T	NM_080737.3	NP_542775.2:p.(Pro557=)	NC_000023.10:g.99933584G>A	(Likely) benign	1 lab	2134fb84a5
1:103347336 COL11A1 C>A	1	103347336	103347336	C	A	COL11A1	c.5008-15G>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103347336C>A	(Likely) benign	1 lab	21355c47cd
9:130587623 ENG T>C	9	130587623	130587623	T	C	ENG	c.703A>G	NM_000118.3	NP_000109.1:p.(Thr235Ala)	NC_000009.11:g.130587623T>C	VUS	1 lab	2136c1ec2d
17:61771145 MAP3K3 C>T	17	61771145	61771145	C	T	MAP3K3	c.*8C>T	NM_203351.3	NP_976226.1:p.?	NC_000017.10:g.61771145C>T	(Likely) benign	1 lab	2136fb73d2
16:57017002 CETP T>G	16	57017002	57017002	T	G	CETP	c.1322-236T>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017002T>G	(Likely) benign	1 lab	213754aba7
7:128049496 IMPDH1 T>C	7	128049496	128049496	T	C	IMPDH1	c.189A>G	NM_000883.4	NP_000874.2:p.(Ser63=)	NC_000007.13:g.128049496T>C	(Likely) benign	1 lab	213ca7535f
9:26984319 IFT74 CAA>C	9	26984319	26984321	CAA	C	IFT74	c.371_372del	NM_001099222.3	NP_001092692.1:p.(Gln124ArgfsTer9)	NC_000009.11:g.26984320_26984321del	(Likely) pathogenic	1 lab	213eae0197
12:64401410 SRGAP1 Ref too long to show for this DEL>C	12	64401410	64410622	Ref too long to show for this DEL	C	SRGAP1	c.427-9318_427-108del	NM_020762.4	NP_065813.1:p.?	NC_000012.11:g.64401412_64410622del	VUS	1 lab	21414bdc61
2:21232972 APOB G>A	2	21232972	21232972	G	A	APOB	c.6768C>T	NM_000384.3	NP_000375.3:p.(Tyr2256=)	NC_000002.11:g.21232972G>A	(Likely) benign	1 lab	2141ca8d7b
18:21116706 NPC1 C>T	18	21116706	21116706	C	T	NPC1	c.3176G>A	NM_000271.5	NP_000262.2:p.(Arg1059Gln)	NC_000018.9:g.21116706C>T	(Likely) pathogenic	1 lab	2148a6bf60
16:1004337 LMF1 G>A	16	1004337	1004337	G	A	LMF1	c.503+20C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004337G>A	(Likely) benign	1 lab	214add8a91
12:40714983 LRRK2 A>G	12	40714983	40714983	A	G	LRRK2	c.5163A>G	NM_198578.4	NP_940980.4:p.(Ser1721=)	NC_000012.11:g.40714983A>G	(Likely) benign	1 lab	214bd2bec2
1:220326514 RAB3GAP2 G>A	1	220326514	220326514	G	A	RAB3GAP2	c.3867+13C>T	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220326514G>A	(Likely) benign	1 lab	214cbbf47b
X:114882223 PLS3 TC>T	X	114882223	114882224	TC	T	PLS3	c.1647del	NM_005032.7	NP_005023.2:p.(Ser550AlafsTer9)	NC_000023.10:g.114882224del	(Likely) pathogenic	1 lab	214e3aa706
2:24933897 NCOA1 C>T	2	24933897	24933897	C	T	NCOA1	c.2516C>T	NM_003743.5	NP_003734.3:p.(Ala839Val)	NC_000002.11:g.24933897C>T	(Likely) benign	1 lab	214eb41aa1
17:36484577 GPR179 T>C	17	36484577	36484577	T	C	GPR179	c.4875A>G	NM_001004334.4	NP_001004334.3:p.(Gly1625=)	NC_000017.10:g.36484577T>C	(Likely) benign	1 lab	214eecf939
X:46919651 JADE3 TA>T	X	46919651	46919657	TA	T	JADE3	c.*1181_*1182=	NM_014735.5	NP_055550.1:p.?	NC_000023.10:g.46919657del	(Likely) benign	1 lab	21520950cc
9:87635141 NTRK2 G>A	9	87635141	87635141	G	A	NTRK2	c.2145G>A	NM_001369532.1	NP_001356461.1:p.(Leu715=)	NC_000009.11:g.87635141G>A	(Likely) benign	1 lab	2152689349
11:68673617 IGHMBP2 G>A	11	68673617	68673617	G	A	IGHMBP2	c.167G>A	NM_002180.3	NP_002171.2:p.(Arg56His)	NC_000011.9:g.68673617G>A	VUS	1 lab	21566f3017
1:1168588 B3GALT6 C>T	1	1168588	1168588	C	T	B3GALT6	c.930C>T	NM_080605.4	NP_542172.2:p.(Tyr310=)	NC_000001.10:g.1168588C>T	(Likely) benign	1 lab	215b8e3527
9:107651945 ABCA1 T>C	9	107651945	107651945	T	C	ABCA1	c.67-469A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651945T>C	(Likely) benign	1 lab	215eb4170e
X:25025490 ARX G>C	X	25025490	25025490	G	C	ARX	c.1186C>G	NM_139058.3	NP_620689.1:p.(Pro396Ala)	NC_000023.10:g.25025490G>C	VUS	1 lab	215fdad296
1:55518166 PCSK9 G>A	1	55518166	55518166	G	A	PCSK9	c.657+82G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518166G>A	(Likely) benign	1 lab	216283e77a
6:32726772 HLA-DQB2 G>A	6	32726772	32726772	G	A	HLA-DQB2	c.501C>T	NM_001300790.2	NP_001287719.1:p.(Ala167=)	NC_000006.11:g.32726772G>A	(Likely) benign	1 lab	21630cbd63
1:170508656 GORAB G>T	1	170508656	170508656	G	T	GORAB	c.367G>T	NM_152281.3	NP_689494.3:p.(Glu123Ter)	NC_000001.10:g.170508656G>T	(Likely) pathogenic	1 lab	216350134e
1:160209598 DCAF8 G>A	1	160209598	160209598	G	A	DCAF8	c.612C>T	NM_015726.4	NP_056541.2:p.(Arg204=)	NC_000001.10:g.160209598G>A	(Likely) benign	1 lab	21665e253a
19:11218210 LDLR G>GTCT	19	11218210	11218211	G	GTCT	LDLR	c.940+20_940+21insTCT	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218210_11218211insTCT	VUS	1 lab	2168a5961a
10:95399905 PDE6C T>C	10	95399905	95399905	T	C	PDE6C	c.1561T>C	NM_006204.4	NP_006195.3:p.(Leu521=)	NC_000010.10:g.95399905T>C	(Likely) benign	1 lab	2168fd451d
20:18005424 OVOL2 G>T	20	18005424	18005424	G	T	OVOL2	c.684C>A	NM_021220.4	NP_067043.2:p.(Asp228Glu)	NC_000020.10:g.18005424G>T	(Likely) benign	1 lab	216953c219
16:50783837 CYLD G>A	16	50783837	50783837	G	A	CYLD	c.228G>A	NM_015247.3	NP_056062.1:p.(Glu76=)	NC_000016.9:g.50783837G>A	(Likely) benign	1 lab	2169daf19a
21:47663633 MCM3AP G>C	21	47663633	47663633	G	C	MCM3AP	c.5042C>G	NM_003906.5	NP_003897.2:p.(Pro1681Arg)	NC_000021.8:g.47663633G>C	VUS	1 lab	216ecee273
X:152853914 CCNQ T>C	X	152853914	152853914	T	C	CCNQ	c.658-2A>G	NM_152274.5	NP_689487.2:p.?	NC_000023.10:g.152853914T>C	(Likely) pathogenic	1 lab	216edb46ff
6:7574001 DSP A>C	6	7574001	7574001	A	C	DSP	c.2131-318A>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574001A>C	(Likely) benign	1 lab	21702993b5
11:86662646 FZD4 G>A	11	86662646	86662646	G	A	FZD4	c.1152C>T	NM_012193.4	NP_036325.2:p.(Leu384=)	NC_000011.9:g.86662646G>A	(Likely) benign	1 lab	217312d541
16:732282 STUB1 G>C	16	732282	732282	G	C	STUB1	c.786+1G>C	NM_005861.4	NP_005852.2:p.?	NC_000016.9:g.732282G>C	(Likely) pathogenic	1 lab	227afc3ce9
11:47361765 MYBPC3 CACAT>C	11	47361765	47361776	CACAT	C	MYBPC3	c.1928-428_1928-425del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361773_47361776del	(Likely) benign	1 lab	2173ebe8ce
16:921153 LMF1 C>T	16	921153	921153	C	T	LMF1	c.1078+8G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921153C>T	VUS	1 lab	21755ad3c3
13:48939015 RB1 C>A	13	48939015	48939015	C	A	RB1	c.862-15C>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48939015C>A	(Likely) benign	1 lab	2177254301
11:47372845 MYBPC3 G>T	11	47372845	47372845	G	T	MYBPC3	c.237C>A	NM_000256.3	NP_000247.2:p.(Tyr79Ter)	NC_000011.9:g.47372845G>T	(Likely) pathogenic	1 lab	217ea0ab7d
5:149360878 SLC26A2 TA>T	5	149360878	149360880	TA	T	SLC26A2	c.1724del	NM_000112.4	NP_000103.2:p.(Lys575SerfsTer10)	NC_000005.9:g.149360880del	(Likely) pathogenic	1 lab	2181fc74b1
6:100061144 PRDM13 C>A	6	100061144	100061144	C	A	PRDM13	c.633C>A	NM_021620.4	NP_067633.2:p.(His211Gln)	NC_000006.11:g.100061144C>A	(Likely) benign	1 lab	21883c9da5
14:23858214 MYH6 G>A	14	23858214	23858214	G	A	MYH6	c.4029C>T	NM_002471.4	NP_002462.2:p.(Asp1343=)	NC_000014.8:g.23858214G>A	(Likely) benign	1 lab	21885e5c62
2:1481271 TPO G>A	2	1481271	1481271	G	A	TPO	c.1233G>A	NM_000547.6	NP_000538.3:p.(Leu411=)	NC_000002.11:g.1481271G>A	(Likely) benign	1 lab	2188bce5e5
16:57012126 CETP C>T	16	57012126	57012126	C	T	CETP	c.1105C>T	NM_000078.3	NP_000069.2:p.(Arg369Cys)	NC_000016.9:g.57012126C>T	VUS	1 lab	218bcd671a
1:25883630 LDLRAP1 T>C	1	25883630	25883630	T	C	LDLRAP1	c.345-14T>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883630T>C	(Likely) benign	1 lab	218d1ed136
19:11241984 LDLR G>A	19	11241984	11241984	G	A	LDLR	c.2575G>A	NM_000527.5	NP_000518.1:p.(Val859Met)	NC_000019.9:g.11241984G>A	VUS	1 lab	218da050ca
X:73811737 RLIM T>A	X	73811737	73811737	T	A	RLIM	c.1413A>T	NM_183353.3	NP_899196.1:p.(Ser471=)	NC_000023.10:g.73811737T>A	(Likely) benign	1 lab	218de157c8
19:11217361 LDLR ATGGTGAGCGC>A	19	11217361	11217374	ATGGTGAGCGC	A	LDLR	c.817+2_817+11del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217365_11217374del	(Likely) pathogenic	1 lab	2195abd5be
16:70302243 AARS1 G>A	16	70302243	70302243	G	A	AARS1	c.1002C>T	NM_001605.3	NP_001596.2:p.(Tyr334=)	NC_000016.9:g.70302243G>A	(Likely) benign	1 lab	21979f33b4
20:41481548 PTPRT A>Alt too long to show for this DUP	20	41481548	41538983	A	Alt too long to show for this DUP	PTPRT	c.89-24411_214+32898dup	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41481549_41538983dup	VUS	1 lab	2197d7d6e8
2:179511767 TTN G>GTATATATA	2	179511767	179511789	G	GTATATATA	TTN	c.40222+16_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511782_179511789dup	(Likely) benign	1 lab	219991f74c
3:38835370 SCN10A C>T	3	38835370	38835370	C	T	SCN10A	c.132G>A	NM_006514.4	NP_006505.4:p.(Gln44=)	NC_000003.11:g.38835370C>T	(Likely) benign	1 lab	2199cecdb5
17:60108804 MED13 C>G	17	60108804	60108804	C	G	MED13	c.1009+1G>C	NM_005121.3	NP_005112.2:p.?	NC_000017.10:g.60108804C>G	(Likely) pathogenic	1 lab	2199e1bb7b
8:100221816 VPS13B G>T	8	100221816	100221816	G	T	VPS13B	c.2515+16531G>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100221816G>T	(Likely) benign	1 lab	219a0388dc
9:70919114 FOXD4L3 C>G	9	70919114	70919114	C	G	FOXD4L3	c.1247C>G	NM_199135.4	NP_954586.4:p.(Pro416Arg)	NC_000009.11:g.70919114C>G	(Likely) benign	1 lab	219c578ee5
2:21231029 APOB G>A	2	21231029	21231029	G	A	APOB	c.8711C>T	NM_000384.3	NP_000375.3:p.(Ala2904Val)	NC_000002.11:g.21231029G>A	VUS	1 lab	219d4faef7
7:6855354 MISSING T>Alt too long to show for this DUP	7	6855354	7469635	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.6855356_7469635dup	VUS	1 lab	21a3a1852d
16:64981858 CDH11 G>T	16	64981858	64981858	G	T	CDH11	c.2039C>A	NM_001797.4	NP_001788.2:p.(Thr680Asn)	NC_000016.9:g.64981858G>T	VUS	1 lab	21a634f2b9
18:19437182 MIB1 A>G	18	19437182	19437182	A	G	MIB1	c.2757A>G	NM_020774.4	NP_065825.1:p.(Ser919=)	NC_000018.9:g.19437182A>G	(Likely) benign	1 lab	21ab63598b
3:42251577 TRAK1 C>CGGAGGAGGA	3	42251577	42251609	C	CGGAGGAGGA	TRAK1	c.2087_2095dup	NM_001265608.2	NP_001252537.1:p.(Glu696_Glu698dup)	NC_000003.11:g.42251601_42251609dup	(Likely) benign	1 lab	21ad7640a1
3:127323390 MISSING G>Alt too long to show for this DUP	3	127323390	127371019	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.127323391_127371019dup	VUS	1 lab	21b12dd7da
15:85399706 ALPK3 C>T	15	85399706	85399706	C	T	ALPK3	c.1737C>T	NM_020778.5	NP_065829.4:p.(Ser579=)	NC_000015.9:g.85399706C>T	(Likely) benign	1 lab	21b14812d2
5:180049808 FLT4 T>C	5	180049808	180049808	T	C	FLT4	c.1580A>G	NM_182925.5	NP_891555.2:p.(Asn527Ser)	NC_000005.9:g.180049808T>C	(Likely) benign	1 lab	21b6739136
15:58834042 LIPC C>T	15	58834042	58834042	C	T	LIPC	c.332C>T	NM_000236.3	NP_000227.2:p.(Pro111Leu)	NC_000015.9:g.58834042C>T	VUS	1 lab	21bf1dde79
2:179414301 TTN T>G	2	179414301	179414301	T	G	TTN	c.92148A>C	NM_001267550.2	NP_001254479.2:p.(Gln30716His)	NC_000002.11:g.179414301T>G	VUS	1 lab	21c735b738
4:126240662 FAT4 A>G	4	126240662	126240662	A	G	FAT4	c.3096A>G	NM_001291303.3	NP_001278232.1:p.(Ala1032=)	NC_000004.11:g.126240662A>G	(Likely) benign	1 lab	21cd9d9224
2:21228863 APOB G>A	2	21228863	21228863	G	A	APOB	c.10877C>T	NM_000384.3	NP_000375.3:p.(Thr3626Ile)	NC_000002.11:g.21228863G>A	VUS	1 lab	21ce1c146d
6:32012574 TNXB C>T	6	32012574	32012574	C	T	TNXB	c.10922-81G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012574C>T	(Likely) benign	1 lab	21cf5f77cf
19:11233887 LDLR C>CGTCAG	19	11233887	11233893	C	CGTCAG	LDLR	c.2180_2184dup	NM_000527.5	NP_000518.1:p.(Leu729SerfsTer3)	NC_000019.9:g.11233889_11233893dup	(Likely) pathogenic	1 lab	21d2671872
12:2802012 MISSING A>Alt too long to show for this DUP	12	2802012	2924802	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.2802013_2924802dup	VUS	1 lab	21d2b49aa4
6:138177684 MISSING Ref too long to show for this DEL>T	6	138177684	138195723	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.138177685_138195723del	VUS	1 lab	21d4c9736d
11:5247060 HBB T>A	11	5247060	5247060	T	A	HBB	c.316-104A>T	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247060T>A	(Likely) pathogenic	1 lab	21e048a966
12:53729491 SP7 T>TG	12	53729491	53729499	T	TG	SP7	c.-47-15dup	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53729499dup	(Likely) benign	1 lab	21e05f550e
1:237813340 RYR2 G>A	1	237813340	237813340	G	A	RYR2	c.7676G>A	NM_001035.3	NP_001026.2:p.(Cys2559Tyr)	NC_000001.10:g.237813340G>A	VUS	1 lab	21e201303b
1:218530340 TGFB2 G>A	1	218530340	218530340	G	A	TGFB2	c.347-6336G>A	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218530340G>A	(Likely) benign	1 lab	21e44290d5
2:21226200 APOB G>C	2	21226200	21226200	G	C	APOB	c.12094C>G	NM_000384.3	NP_000375.3:p.(Pro4032Ala)	NC_000002.11:g.21226200G>C	VUS	1 lab	21e5e3e8da
1:236899041 ACTN2 C>T	1	236899041	236899041	C	T	ACTN2	c.783+21C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236899041C>T	(Likely) benign	1 lab	21e68c24d6
9:69200366 FOXD4L6 G>C	9	69200366	69200366	G	C	FOXD4L6	c.1247C>G	NM_001085476.4	NP_001078945.1:p.(Pro416Arg)	NC_000009.11:g.69200366G>C	(Likely) benign	1 lab	21e87549fe
8:1876762 ARHGEF10 C>T	8	1876762	1876762	C	T	ARHGEF10	c.2939C>T	NM_001308153.2	NP_001295082.1:p.(Pro980Leu)	NC_000008.10:g.1876762C>T	(Likely) benign	1 lab	21ee20c94f
10:27688173 PTCHD3 T>TA	10	27688173	27688188	T	TA	PTCHD3	c.1358-5dup	NM_001034842.4	NP_001030014.2:p.?	NC_000010.10:g.27688188dup	(Likely) benign	1 lab	21eea0f4a9
9:131284948 GLE1 A>G	9	131284948	131284948	A	G	GLE1	c.434A>G	NM_001003722.2	NP_001003722.1:p.(Glu145Gly)	NC_000009.11:g.131284948A>G	(Likely) benign	1 lab	21efa63359
X:18662644 RS1 T>A	X	18662644	18662644	T	A	RS1	c.428A>T	NM_000330.4	NP_000321.1:p.(Asp143Val)	NC_000023.10:g.18662644T>A	(Likely) pathogenic	1 lab	21f08f160a
9:107620844 ABCA1 G>A	9	107620844	107620844	G	A	ABCA1	c.679C>T	NM_005502.4	NP_005493.2:p.(Arg227Ter)	NC_000009.11:g.107620844G>A	(Likely) pathogenic	1 lab	21f278fa56
16:67977286 LCAT C>G	16	67977286	67977286	C	G	LCAT	c.155-171G>C	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977286C>G	(Likely) benign	1 lab	21f2b822aa
5:110083983 SLC25A46 C>T	5	110083983	110083983	C	T	SLC25A46	c.563+19C>T	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110083983C>T	(Likely) benign	1 lab	21f34be2ef
12:64875680 TBK1 A>G	12	64875680	64875680	A	G	TBK1	c.871A>G	NM_013254.4	NP_037386.1:p.(Lys291Glu)	NC_000012.11:g.64875680A>G	VUS	1 lab	21fd519086
2:189944945 COL5A2 C>G	2	189944945	189944945	C	G	COL5A2	c.907-188G>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189944945C>G	(Likely) benign	1 lab	21fdbc1e17
19:11240347 LDLR G>A	19	11240347	11240347	G	A	LDLR	c.2547+1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240347G>A	(Likely) pathogenic	1 lab	21fe162c2f
X:39922359 BCOR A>G	X	39922359	39922359	A	G	BCOR	c.3848-35T>C	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39922359A>G	(Likely) benign	1 lab	22018614ce
2:21229264 APOB A>T	2	21229264	21229264	A	T	APOB	c.10476T>A	NM_000384.3	NP_000375.3:p.(Ile3492=)	NC_000002.11:g.21229264A>T	(Likely) benign	1 lab	220b134a73
4:22444334 ADGRA3 C>T	4	22444334	22444334	C	T	ADGRA3	c.859G>A	NM_145290.4	NP_660333.2:p.(Asp287Asn)	NC_000004.11:g.22444334C>T	(Likely) benign	1 lab	220f411abf
18:34289065 FHOD3 CG>C	18	34289065	34289069	CG	C	FHOD3	c.2248del	NM_001281740.3	NP_001268669.1:p.(Asp750IlefsTer27)	NC_000018.9:g.34289069del	VUS	1 lab	220f9d92d6
15:67477046 SMAD3 C>G	15	67477046	67477046	C	G	SMAD3	c.872-19C>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67477046C>G	(Likely) benign	1 lab	2213c8f563
13:32907420 BRCA2 GA>G	13	32907420	32907428	GA	G	BRCA2	c.1813del	NM_000059.4	NP_000050.3:p.(Ile605TyrfsTer9)	NC_000013.10:g.32907428del	(Likely) pathogenic	1 lab	2214d20f71
16:46762940 MYLK3 C>G	16	46762940	46762940	C	G	MYLK3	c.1768G>C	NM_182493.3	NP_872299.2:p.(Glu590Gln)	NC_000016.9:g.46762940C>G	VUS	1 lab	2215332600
2:21229965 APOB C>T	2	21229965	21229965	C	T	APOB	c.9775G>A	NM_000384.3	NP_000375.3:p.(Glu3259Lys)	NC_000002.11:g.21229965C>T	VUS	1 lab	221fff1c4d
12:57894157 MARS1 A>C	12	57894157	57894157	A	C	MARS1	c.1145A>C	NM_004990.4	NP_004981.2:p.(Asp382Ala)	NC_000012.11:g.57894157A>C	VUS	1 lab	22250f83b9
2:44102425 ABCG8 G>T	2	44102425	44102425	G	T	ABCG8	c.1629G>T	NM_022437.3	NP_071882.1:p.(Arg543Ser)	NC_000002.11:g.44102425G>T	(Likely) pathogenic	1 lab	2225fe8d2c
9:79825541 VPS13A C>T	9	79825541	79825541	C	T	VPS13A	c.505C>T	NM_033305.3	NP_150648.2:p.(Arg169Trp)	NC_000009.11:g.79825541C>T	(Likely) benign	1 lab	22268566be
14:92347624 FBLN5 G>GC	14	92347624	92347626	G	GC	FBLN5	c.821+11dup	NM_001384161.1	NP_001371090.1:p.?	NC_000014.8:g.92347626dup	(Likely) benign	1 lab	22272d8bd7
4:2044114 NICOL1 ACCG>A	4	2044114	2044130	ACCG	A	NICOL1	c.50_52del	NM_001141936.3	NP_001135408.3:p.(Pro17del)	NC_000004.11:g.2044128_2044130del	(Likely) benign	1 lab	2228303309
8:10467635 RP1L1 T>C	8	10467635	10467635	T	C	RP1L1	c.3973A>G	NM_178857.6	NP_849188.4:p.(Thr1325Ala)	NC_000008.10:g.10467635T>C	(Likely) benign	1 lab	222955220d
7:92129163 PEX1 A>G	7	92129163	92129163	A	G	PEX1	c.1960-11T>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129163A>G	(Likely) benign	1 lab	222a173bfb
2:39212985 SOS1 C>A	2	39212985	39212985	C	A	SOS1	c.3982G>T	NM_005633.4	NP_005624.2:p.(Glu1328Ter)	NC_000002.11:g.39212985C>A	(Likely) pathogenic	1 lab	222a78cc41
19:50215194 CPT1C C>G	19	50215194	50215194	C	G	CPT1C	c.2061C>G	NM_001378482.1	NP_001365411.1:p.(His687Gln)	NC_000019.9:g.50215194C>G	VUS	1 lab	222b233cb8
4:106370580 PPA2 A>G	4	106370580	106370580	A	G	PPA2	c.268-20T>C	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106370580A>G	(Likely) benign	1 lab	222d88c676
3:62074 MISSING Ref too long to show for this DEL>T	3	62074	2740118	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.62075_2740118del	(Likely) pathogenic	1 lab	222ea15cfb
18:47107864 LIPG G>A	18	47107864	47107864	G	A	LIPG	c.873G>A	NM_006033.4	NP_006024.1:p.(Pro291=)	NC_000018.9:g.47107864G>A	(Likely) benign	1 lab	222eb7c487
6:56510943 DST T>G	6	56510943	56510943	T	G	DST	c.1493A>C	NM_001144769.5	NP_001138241.1:p.(Glu498Ala)	NC_000006.11:g.56510943T>G	VUS	1 lab	223394d8db
12:2027564 CACNA2D4 C>T	12	2027564	2027564	C	T	CACNA2D4	c.76G>A	NM_172364.5	NP_758952.4:p.(Ala26Thr)	NC_000012.11:g.2027564C>T	(Likely) benign	1 lab	2234e41ab5
4:5073319 STK32B Ref too long to show for this DEL>A	4	5073319	5152504	Ref too long to show for this DEL	A	STK32B	c.52+19678_108+10817del	NM_018401.3	NP_060871.1:p.?	NC_000004.11:g.5073320_5152504del	VUS	1 lab	2236fa2712
6:135652219 MISSING T>Alt too long to show for this DUP	6	135652219	136167853	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.135652221_136167853dup	VUS	1 lab	2237deadcb
10:64573332 EGR2 C>T	10	64573332	64573332	C	T	EGR2	c.1066G>A	NM_000399.5	NP_000390.2:p.(Glu356Lys)	NC_000010.10:g.64573332C>T	(Likely) pathogenic	1 lab	2238d16dbe
9:137630899 COL5A1 G>A	9	137630899	137630899	G	A	COL5A1	c.1494+245G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630899G>A	(Likely) benign	1 lab	223b9c43bc
8:144995494 PLEC C>T	8	144995494	144995494	C	T	PLEC	c.8906G>A	NM_201380.4	NP_958782.1:p.(Arg2969His)	NC_000008.10:g.144995494C>T	(Likely) benign	1 lab	223beb861b
12:132530073 EP400 T>A	12	132530073	132530073	T	A	EP400	c.6994T>A	NM_015409.5	NP_056224.3:p.(Trp2332Arg)	NC_000012.11:g.132530073T>A	VUS	1 lab	223cf94ac0
1:237048500 MTR A>G	1	237048500	237048500	A	G	MTR	c.2756A>G	NM_000254.3	NP_000245.2:p.(Asp919Gly)	NC_000001.10:g.237048500A>G	(Likely) benign	1 lab	223d78c366
20:45338377 SLC2A10 T>A	20	45338377	45338377	T	A	SLC2A10	c.2T>A	NM_030777.4	NP_110404.1:p.(Met1?)	NC_000020.10:g.45338377T>A	(Likely) pathogenic	1 lab	223f4e8173
6:7580818 DSP T>A	6	7580818	7580818	T	A	DSP	c.4395T>A	NM_004415.4	NP_004406.2:p.(Tyr1465Ter)	NC_000006.11:g.7580818T>A	(Likely) pathogenic	1 lab	223f5041d8
19:11241915 LDLR A>G	19	11241915	11241915	A	G	LDLR	c.2548-42A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241915A>G	(Likely) benign	1 lab	22406f0afe
10:71136674 HK1 G>T	10	71136674	71136674	G	T	HK1	c.840-16G>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71136674G>T	(Likely) benign	1 lab	224080fa67
X:118603864 SLC25A5 G>A	X	118603864	118603864	G	A	SLC25A5	c.352G>A	NM_001152.5	NP_001143.2:p.(Ala118Thr)	NC_000023.10:g.118603864G>A	(Likely) benign	1 lab	22434fb33a
18:6978223 LAMA1 G>A	18	6978223	6978223	G	A	LAMA1	c.6162C>T	NM_005559.4	NP_005550.2:p.(His2054=)	NC_000018.9:g.6978223G>A	(Likely) benign	1 lab	224367c1ea
2:44102468 ABCG8 AT>A	2	44102468	44102469	AT	A	ABCG8	c.1673del	NM_022437.3	NP_071882.1:p.(Met558ArgfsTer20)	NC_000002.11:g.44102469del	(Likely) pathogenic	1 lab	2243758a86
16:57016086 CETP G>A	16	57016086	57016086	G	A	CETP	c.1258G>A	NM_000078.3	NP_000069.2:p.(Glu420Lys)	NC_000016.9:g.57016086G>A	VUS	1 lab	2245cc7317
5:138160287 CTNNA1 G>A	5	138160287	138160287	G	A	CTNNA1	c.657G>A	NM_001903.5	NP_001894.2:p.(Pro219=)	NC_000005.9:g.138160287G>A	(Likely) benign	1 lab	2246f50eaf
18:45395280 SMAD2 T>C	18	45395280	45395280	T	C	SMAD2	c.520+334A>G	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45395280T>C	(Likely) benign	1 lab	2248bd62e0
2:216298172 FN1 C>A	2	216298172	216298172	C	A	FN1	c.290G>T	NM_212482.4	NP_997647.2:p.(Cys97Phe)	NC_000002.11:g.216298172C>A	(Likely) pathogenic	1 lab	224a50623f
5:14471530 TRIO T>C	5	14471530	14471530	T	C	TRIO	c.5867T>C	NM_007118.4	NP_009049.2:p.(Ile1956Thr)	NC_000005.9:g.14471530T>C	VUS	1 lab	22656cd083
2:100453964 AFF3 Ref too long to show for this DEL>T	2	100453964	100596363	Ref too long to show for this DEL	T	AFF3	c.873+26731_895del	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100453965_100596363del	VUS	1 lab	224aed0322
6:32064538 TNXB T>A	6	32064538	32064538	T	A	TNXB	c.1092A>T	NM_019105.8	NP_061978.6:p.(Thr364=)	NC_000006.11:g.32064538T>A	(Likely) benign	1 lab	224cfba599
10:94409749 KIF11 T>C	10	94409749	94409749	T	C	KIF11	c.2922+6T>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94409749T>C	(Likely) benign	1 lab	224d5fb569
12:59267865 LRIG3 C>T	12	59267865	59267865	C	T	LRIG3	c.3087G>A	NM_153377.5	NP_700356.2:p.(Ala1029=)	NC_000012.11:g.59267865C>T	(Likely) benign	1 lab	2252db0558
1:55524203 PCSK9 A>G	1	55524203	55524203	A	G	PCSK9	c.1386A>G	NM_174936.4	NP_777596.2:p.(Ser462=)	NC_000001.10:g.55524203A>G	(Likely) benign	1 lab	2257e79f01
20:10621838 JAG1 T>C	20	10621838	10621838	T	C	JAG1	c.2971A>G	NM_000214.3	NP_000205.1:p.(Asn991Asp)	NC_000020.10:g.10621838T>C	VUS	1 lab	225b52a1f0
16:8905029 PMM2 C>T	16	8905029	8905029	C	T	PMM2	c.441C>T	NM_000303.3	NP_000294.1:p.(Leu147=)	NC_000016.9:g.8905029C>T	(Likely) benign	1 lab	225e24451a
14:23896018 MYH7 C>T	14	23896018	23896018	C	T	MYH7	c.2012G>A	NM_000257.4	NP_000248.2:p.(Arg671His)	NC_000014.8:g.23896018C>T	(Likely) pathogenic	1 lab	225e5b2fef
10:90701137 ACTA2 C>T	10	90701137	90701137	C	T	ACTA2	c.465G>A	NM_001141945.2	NP_001135417.1:p.(Leu155=)	NC_000010.10:g.90701137C>T	(Likely) benign	1 lab	225e700576
6:79724935 PHIP T>C	6	79724935	79724935	T	C	PHIP	c.1390-2A>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79724935T>C	(Likely) pathogenic	1 lab	2265761f93
8:75275262 GDAP1 T>A	8	75275262	75275262	T	A	GDAP1	c.668T>A	NM_018972.4	NP_061845.2:p.(Leu223Ter)	NC_000008.10:g.75275262T>A	(Likely) pathogenic	1 lab	22677cab0a
11:68179106 LRP5 G>A	11	68179106	68179106	G	A	LRP5	c.2503+18G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68179106G>A	(Likely) benign	1 lab	2267e98166
7:100276355 GNB2 C>T	7	100276355	100276355	C	T	GNB2	c.954C>T	NM_005273.4	NP_005264.2:p.(Leu318=)	NC_000007.13:g.100276355C>T	(Likely) benign	1 lab	22697d48c2
22:50897737 SBF1 G>A	22	50897737	50897737	G	A	SBF1	c.3773C>T	NM_002972.4	NP_002963.2:p.(Ala1258Val)	NC_000022.10:g.50897737G>A	VUS	1 lab	226a2f1be4
3:52486110 TNNC1 G>A	3	52486110	52486110	G	A	TNNC1	c.202+12C>T	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52486110G>A	(Likely) benign	1 lab	227144da94
9:107550639 ABCA1 A>G	9	107550639	107550639	A	G	ABCA1	c.6069+68T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550639A>G	(Likely) benign	1 lab	2273968777
8:59409214 CYP7A1 G>A	8	59409214	59409214	G	A	CYP7A1	c.857C>T	NM_000780.4	NP_000771.2:p.(Ser286Leu)	NC_000008.10:g.59409214G>A	VUS	1 lab	2273e090dd
4:7622505 SORCS2 C>Alt too long to show for this DUP	4	7622505	7733191	C	Alt too long to show for this DUP	SORCS2	c.649-17548_3108+1752dup	NM_020777.3	NP_065828.2:p.?	NC_000004.11:g.7622507_7733191dup	VUS	1 lab	22780b6915
4:24801834 SOD3 C>G	4	24801834	24801834	C	G	SOD3	c.691C>G	NM_003102.4	NP_003093.2:p.(Arg231Gly)	NC_000004.11:g.24801834C>G	(Likely) benign	1 lab	227a03378f
17:59820359 BRIP1 G>A	17	59820359	59820359	G	A	BRIP1	c.2379+15C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59820359G>A	(Likely) benign	1 lab	227d6e4af9
X:119510084 MISSING Ref too long to show for this DEL>T	X	119510084	119541198	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.119510085_119541198del	VUS	1 lab	2283afa608
4:122749546 BBS7 CAT>C	4	122749546	122749548	CAT	C	BBS7	c.1890+9_1890+10del	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122749547_122749548del	(Likely) benign	1 lab	2286a8c06c
11:48158586 PTPRJ T>A	11	48158586	48158586	T	A	PTPRJ	c.1905T>A	NM_002843.4	NP_002834.3:p.(Ser635Arg)	NC_000011.9:g.48158586T>A	(Likely) benign	1 lab	228e653877
15:45427488 DUOX1 C>T	15	45427488	45427488	C	T	DUOX1	c.494C>T	NM_017434.5	NP_059130.2:p.(Pro165Leu)	NC_000015.9:g.45427488C>T	(Likely) benign	1 lab	228f54d025
13:98814390 MISSING G>Alt too long to show for this DUP	13	98814390	99489760	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.98814392_99489760dup	VUS	1 lab	228fc694e7
3:50378154 RASSF1 C>T	3	50378154	50378154	C	T	RASSF1	c.83G>A	NM_007182.5	NP_009113.3:p.(Arg28His)	NC_000003.11:g.50378154C>T	(Likely) benign	1 lab	229123e261
2:105977881 FHL2 G>T	2	105977881	105977881	G	T	FHL2	c.699C>A	NM_201555.2	NP_963849.1:p.(Gly233=)	NC_000002.11:g.105977881G>T	(Likely) benign	1 lab	22a505b3b7
2:189859434 COL3A1 CTT>C	2	189859434	189859446	CTT	C	COL3A1	c.1348-5_1348-4del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859445_189859446del	(Likely) benign	1 lab	2293a90118
19:1398993 GAMT G>GC	19	1398993	1398999	G	GC	GAMT	c.491dup	NM_138924.3	NP_620279.1:p.(Val165ArgfsTer26)	NC_000019.9:g.1398999dup	(Likely) pathogenic	1 lab	2293b28658
11:119216624 C1QTNF5 G>T	11	119216624	119216624	G	T	C1QTNF5	c.-2351C>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216624G>T	(Likely) benign	1 lab	229889ad04
17:6328845 AIPL1 C>T	17	6328845	6328845	C	T	AIPL1	c.1090G>A	NM_014336.5	NP_055151.3:p.(Ala364Thr)	NC_000017.10:g.6328845C>T	(Likely) benign	1 lab	229b212996
2:179428384 TTN C>T	2	179428384	179428384	C	T	TTN	c.82475G>A	NM_001267550.2	NP_001254479.2:p.(Arg27492His)	NC_000002.11:g.179428384C>T	VUS	1 lab	229ed3292c
19:3110153 GNA11 G>C	19	3110153	3110153	G	C	GNA11	c.143G>C	NM_002067.5	NP_002058.2:p.(Gly48Ala)	NC_000019.9:g.3110153G>C	(Likely) pathogenic	1 lab	229ed962cb
10:61831744 ANK3 A>G	10	61831744	61831744	A	G	ANK3	c.8895T>C	NM_020987.5	NP_066267.2:p.(Ala2965=)	NC_000010.10:g.61831744A>G	(Likely) benign	1 lab	229f3a7eb2
8:55540951 RP1 T>C	8	55540951	55540951	T	C	RP1	c.4509T>C	NM_006269.2	NP_006260.1:p.(Thr1503=)	NC_000008.10:g.55540951T>C	(Likely) benign	1 lab	229f5a096f
9:107576693 ABCA1 C>G	9	107576693	107576693	C	G	ABCA1	c.3787+15G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576693C>G	(Likely) benign	1 lab	22a0f73c7a
15:72636487 HEXA A>G	15	72636487	72636487	A	G	HEXA	c.1527-6T>C	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72636487A>G	(Likely) benign	1 lab	22a195f8d0
20:10620661 JAG1 CG>C	20	10620661	10620662	CG	C	JAG1	c.3200-59del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10620662del	(Likely) benign	1 lab	22a1b75777
10:73574913 CDH23 C>G	10	73574913	73574913	C	G	CDH23	c.9943C>G	NM_022124.6	NP_071407.4:p.(Leu3315Val)	NC_000010.10:g.73574913C>G	VUS	1 lab	22a2eb4f64
14:23864615 MISSING T>Alt too long to show for this DUP	14	23864615	23897151	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.23864616_23897151dup	VUS	1 lab	22a5176a08
6:16143252 MYLIP A>G	6	16143252	16143252	A	G	MYLIP	c.466A>G	NM_013262.4	NP_037394.2:p.(Ile156Val)	NC_000006.11:g.16143252A>G	VUS	1 lab	22a56d199b
10:75874106 VCL G>A	10	75874106	75874106	G	A	VCL	c.2910G>A	NM_003373.4	NP_003364.1:p.(Lys970=)	NC_000010.10:g.75874106G>A	(Likely) benign	1 lab	22a7f49e6a
14:95566087 DICER1 AC>A	14	95566087	95566088	AC	A	DICER1	c.4206+29del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566088del	(Likely) benign	1 lab	22abf4bc50
20:3214181 MISSING C>Alt too long to show for this DUP	20	3214181	3417914	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.3214182_3417914dup	VUS	1 lab	22acc1f4b5
13:77581682 FBXL3 T>TA	13	77581682	77581691	T	TA	FBXL3	c.884dup	NM_012158.4	NP_036290.1:p.(Leu295PhefsTer3)	NC_000013.10:g.77581691dup	(Likely) pathogenic	1 lab	22afa76caf
2:27693825 IFT172 T>G	2	27693825	27693825	T	G	IFT172	c.1662A>C	NM_015662.3	NP_056477.1:p.(Ala554=)	NC_000002.11:g.27693825T>G	(Likely) benign	1 lab	22b2e62658
2:207170334 ZDBF2 G>C	2	207170334	207170334	G	C	ZDBF2	c.1082G>C	NM_020923.3	NP_065974.1:p.(Ser361Thr)	NC_000002.11:g.207170334G>C	(Likely) benign	1 lab	22b3741311
12:27288253 MISSING Ref too long to show for this DEL>A	12	27288253	27788481	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.27288254_27788481del	VUS	1 lab	22b3d5f239
11:121495970 SORL1 C>T	11	121495970	121495970	C	T	SORL1	c.6348C>T	NM_003105.6	NP_003096.2:p.(Tyr2116=)	NC_000011.9:g.121495970C>T	(Likely) benign	1 lab	22b45bc79c
X:154851988 SPRY3 G>Alt too long to show for this DUP	X	154851988	154929279	G	Alt too long to show for this DUP	SPRY3	c.-282+9681_-281-68345dup	NM_001304990.2	NP_001291919.1:p.?	NC_000023.10:g.154851989_154929279dup	VUS	1 lab	22b5f5a6d1
16:46781867 MYLK3 C>G	16	46781867	46781867	C	G	MYLK3	c.239G>C	NM_182493.3	NP_872299.2:p.(Gly80Ala)	NC_000016.9:g.46781867C>G	VUS	1 lab	22bfdb5bee
5:893221 TRIP13 C>T	5	893221	893221	C	T	TRIP13	c.92+16C>T	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.893221C>T	(Likely) benign	1 lab	22c00a3f0b
2:1499974 TPO A>C	2	1499974	1499974	A	C	TPO	c.2215+5A>C	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1499974A>C	(Likely) benign	1 lab	22c0ddb748
17:12896291 ELAC2 G>A	17	12896291	12896291	G	A	ELAC2	c.2325C>T	NM_018127.7	NP_060597.4:p.(Ile775=)	NC_000017.10:g.12896291G>A	(Likely) benign	1 lab	22c93477c7
3:9991858 PRRT3 T>TA	3	9991858	9991868	T	TA	PRRT3	c.-57-3dup	NM_207351.5	NP_997234.3:p.?	NC_000003.11:g.9991868dup	(Likely) benign	1 lab	230f75043b
15:58840649 LIPC A>G	15	58840649	58840649	A	G	LIPC	c.929A>G	NM_000236.3	NP_000227.2:p.(Gln310Arg)	NC_000015.9:g.58840649A>G	VUS	1 lab	22cd5cc010
15:85400082 ALPK3 C>G	15	85400082	85400082	C	G	ALPK3	c.2113C>G	NM_020778.5	NP_065829.4:p.(Gln705Glu)	NC_000015.9:g.85400082C>G	VUS	1 lab	22cf51a04d
17:79803597 P4HB C>T	17	79803597	79803597	C	T	P4HB	c.1199G>A	NM_000918.4	NP_000909.2:p.(Cys400Tyr)	NC_000017.10:g.79803597C>T	(Likely) pathogenic	1 lab	22ebe367af
17:75484318 SEPTIN9 G>A	17	75484318	75484318	G	A	SEPTIN9	c.989-4G>A	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484318G>A	(Likely) benign	1 lab	22d496c4e2
6:3154342 TUBB2A CCGA>C	6	3154342	3154346	CCGA	C	TUBB2A	c.1090_1092del	NM_001069.3	NP_001060.1:p.(Ser364del)	NC_000006.11:g.3154344_3154346del	(Likely) pathogenic	1 lab	22d7cf4c21
2:179447814 TTN G>GT	2	179447814	179447818	G	GT	TTN	c.65715dup	NM_001267550.2	NP_001254479.2:p.(Pro21906ThrfsTer34)	NC_000002.11:g.179447818dup	(Likely) pathogenic	1 lab	22dda83f02
1:78398989 NEXN A>T	1	78398989	78398989	A	T	NEXN	c.1076A>T	NM_144573.4	NP_653174.3:p.(Glu359Val)	NC_000001.10:g.78398989A>T	VUS	1 lab	22ddbb05f3
12:48370590 COL2A1 C>T	12	48370590	48370590	C	T	COL2A1	c.3435+5G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48370590C>T	(Likely) pathogenic	1 lab	22e25416ae
16:15808755 MYH11 G>A	16	15808755	15808755	G	A	MYH11	c.5807+11C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15808755G>A	(Likely) benign	1 lab	22e38b693d
17:39923738 JUP C>T	17	39923738	39923738	C	T	JUP	c.802G>A	NM_002230.4	NP_002221.1:p.(Asp268Asn)	NC_000017.10:g.39923738C>T	VUS	1 lab	22e3f87783
15:48434373 SLC24A5 T>C	15	48434373	48434373	T	C	SLC24A5	c.1328T>C	NM_205850.3	NP_995322.1:p.(Ile443Thr)	NC_000015.9:g.48434373T>C	VUS	1 lab	22e404c6a6
19:55377871 KIR3DL2 T>C	19	55377871	55377871	T	C	KIR3DL2	c.1152T>C	NM_006737.4	NP_006728.2:p.(Asn384=)	NC_000019.9:g.55377871T>C	(Likely) benign	1 lab	22ea4c396a
15:72104474 NR2E3 C>A	15	72104474	72104474	C	A	NR2E3	c.529C>A	NM_016346.4	NP_057430.1:p.(Leu177Ile)	NC_000015.9:g.72104474C>A	VUS	1 lab	22eb51e53d
10:73570251 CDH23 G>A	10	73570251	73570251	G	A	CDH23	c.9002G>A	NM_022124.6	NP_071407.4:p.(Arg3001Gln)	NC_000010.10:g.73570251G>A	VUS	1 lab	22ed6151fb
17:61476264 TANC2 G>A	17	61476264	61476264	G	A	TANC2	c.3098G>A	NM_025185.4	NP_079461.2:p.(Trp1033Ter)	NC_000017.10:g.61476264G>A	(Likely) pathogenic	1 lab	22ee0c41d1
3:38770387 SCN10A G>A	3	38770387	38770387	G	A	SCN10A	c.2286C>T	NM_006514.4	NP_006505.4:p.(Arg762=)	NC_000003.11:g.38770387G>A	(Likely) benign	1 lab	22ee7f23a5
9:107589418 ABCA1 G>A	9	107589418	107589418	G	A	ABCA1	c.2148C>T	NM_005502.4	NP_005493.2:p.(Ser716=)	NC_000009.11:g.107589418G>A	(Likely) benign	1 lab	22ef8eef87
2:114000347 PAX8 C>T	2	114000347	114000347	C	T	PAX8	c.398G>A	NM_003466.4	NP_003457.1:p.(Arg133Gln)	NC_000002.11:g.114000347C>T	(Likely) pathogenic	1 lab	22f3d2e8f2
19:11218208 LDLR C>A	19	11218208	11218208	C	A	LDLR	c.940+18C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218208C>A	(Likely) benign	1 lab	22f401ab2f
7:94227319 SGCE T>TA	7	94227319	94227331	T	TA	SGCE	c.1254-4dup	NM_001099401.2	NP_001092871.1:p.?	NC_000007.13:g.94227331dup	(Likely) benign	1 lab	22f58b7e85
12:32754367 FGD4 G>T	12	32754367	32754367	G	T	FGD4	c.-216+10G>T	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32754367G>T	(Likely) benign	1 lab	22f69ec9a0
2:179597857 TTN T>G	2	179597857	179597857	T	G	TTN	c.16055-9A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597857T>G	(Likely) benign	1 lab	22f90b964b
X:77271283 ATP7A G>A	X	77271283	77271283	G	A	ATP7A	c.2531G>A	NM_000052.7	NP_000043.4:p.(Arg844His)	NC_000023.10:g.77271283G>A	VUS	1 lab	22f94295b4
22:31333631 MORC2 T>C	22	31333631	31333631	T	C	MORC2	c.1251A>G	NM_014941.3	NP_055756.1:p.(Pro417=)	NC_000022.10:g.31333631T>C	(Likely) benign	1 lab	22f9790bc3
5:149240549 PDE6A G>A	5	149240549	149240549	G	A	PDE6A	c.2507-15C>T	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149240549G>A	(Likely) benign	1 lab	22fa9170e4
22:50664533 TUBGCP6 G>A	22	50664533	50664533	G	A	TUBGCP6	c.1779C>T	NM_020461.4	NP_065194.3:p.(His593=)	NC_000022.10:g.50664533G>A	(Likely) benign	1 lab	22fce46aff
18:42643543 SETBP1 G>A	18	42643543	42643543	G	A	SETBP1	c.4671G>A	NM_015559.3	NP_056374.2:p.(Pro1557=)	NC_000018.9:g.42643543G>A	(Likely) benign	1 lab	22fdabe262
16:88802540 PIEZO1 G>C	16	88802540	88802540	G	C	PIEZO1	c.1557+16C>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88802540G>C	(Likely) benign	1 lab	22feca8c75
15:48766729 FBN1 G>T	15	48766729	48766729	G	T	FBN1	c.4083C>A	NM_000138.5	NP_000129.3:p.(Cys1361Ter)	NC_000015.9:g.48766729G>T	(Likely) pathogenic	1 lab	22fed46ef9
8:12923512 MISSING G>Alt too long to show for this DUP	8	12923512	12954178	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.12923513_12954178dup	VUS	1 lab	22ffde09cd
16:46743547 MYLK3 C>T	16	46743547	46743547	C	T	MYLK3	c.2304G>A	NM_182493.3	NP_872299.2:p.(Glu768=)	NC_000016.9:g.46743547C>T	(Likely) benign	1 lab	230137d263
19:11224777 LDLR G>T	19	11224777	11224777	G	T	LDLR	c.1586+339G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224777G>T	(Likely) benign	1 lab	2307a21814
8:10029419 MISSING C>Alt too long to show for this DUP	8	10029419	10742506	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.10029423_10742506dup	(Likely) pathogenic	1 lab	230bb2755f
4:55964401 KDR G>A	4	55964401	55964401	G	A	KDR	c.2412C>T	NM_002253.3	NP_002244.1:p.(Ile804=)	NC_000004.11:g.55964401G>A	(Likely) benign	1 lab	2322ccf137
X:153296086 MECP2 TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG>T	X	153296086	153296118	TCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGG	T	MECP2	c.1161_1192del	NM_004992.4	NP_004983.1:p.(Pro389HisfsTer5)	NC_000023.10:g.153296087_153296118del	(Likely) pathogenic	1 lab	230eff0e52
12:32755151 FGD4 T>C	12	32755151	32755151	T	C	FGD4	c.893T>C	NM_139241.3	NP_640334.2:p.(Met298Thr)	NC_000012.11:g.32755151T>C	(Likely) pathogenic	1 lab	230f589ffb
9:711738 KANK1 T>A	9	711738	711738	T	A	KANK1	c.972T>A	NM_001256877.3	NP_001243806.1:p.(Tyr324Ter)	NC_000009.11:g.711738T>A	VUS	1 lab	2310867790
7:100424586 EPHB4 CG>C	7	100424586	100424587	CG	C	EPHB4	c.52+14del	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100424587del	(Likely) benign	1 lab	23117371be
9:101594072 GALNT12 G>A	9	101594072	101594072	G	A	GALNT12	c.750G>A	NM_024642.5	NP_078918.3:p.(Ser250=)	NC_000009.11:g.101594072G>A	(Likely) benign	1 lab	2311a261f6
2:21227175 APOB T>C	2	21227175	21227175	T	C	APOB	c.12053A>G	NM_000384.3	NP_000375.3:p.(Asp4018Gly)	NC_000002.11:g.21227175T>C	VUS	1 lab	23125de644
19:47258654 FKRP G>A	19	47258654	47258654	G	A	FKRP	c.-39-15G>A	NM_024301.5	NP_077277.1:p.?	NC_000019.9:g.47258654G>A	(Likely) benign	1 lab	23171f9a3b
2:21231784 APOB G>A	2	21231784	21231784	G	A	APOB	c.7956C>T	NM_000384.3	NP_000375.3:p.(Ile2652=)	NC_000002.11:g.21231784G>A	(Likely) benign	1 lab	2318366a68
16:51174906 SALL1 G>A	16	51174906	51174906	G	A	SALL1	c.936C>T	NM_001127892.2	NP_001121364.1:p.(Ile312=)	NC_000016.9:g.51174906G>A	(Likely) benign	1 lab	2319a6aa3d
9:107602728 ABCA1 A>T	9	107602728	107602728	A	T	ABCA1	c.886T>A	NM_005502.4	NP_005493.2:p.(Ser296Thr)	NC_000009.11:g.107602728A>T	(Likely) benign	1 lab	231d636e99
2:62449887 B3GNT2 C>T	2	62449887	62449887	C	T	B3GNT2	c.532C>T	NM_006577.6	NP_006568.2:p.(Arg178Ter)	NC_000002.11:g.62449887C>T	VUS	1 lab	23200a00b2
22:42461918 NAGA G>A	22	42461918	42461918	G	A	NAGA	c.598-15C>T	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42461918G>A	(Likely) benign	1 lab	2320f46f1a
11:6655201 DCHS1 A>G	11	6655201	6655201	A	G	DCHS1	c.2037T>C	NM_003737.4	NP_003728.1:p.(Asn679=)	NC_000011.9:g.6655201A>G	(Likely) benign	1 lab	232af30c4e
12:21355562 SLCO1B1 T>C	12	21355562	21355562	T	C	SLCO1B1	c.1273T>C	NM_006446.5	NP_006437.3:p.(Tyr425His)	NC_000012.11:g.21355562T>C	(Likely) benign	1 lab	233bc57c11
12:2622092 CACNA1C C>T	12	2622092	2622092	C	T	CACNA1C	c.1332C>T	NM_199460.4	NP_955630.3:p.(Ala444=)	NC_000012.11:g.2622092C>T	(Likely) benign	1 lab	233cb1e518
4:111539437 PITX2 C>T	4	111539437	111539437	C	T	PITX2	c.798G>A	NM_001204397.1	NP_001191326.1:p.(Pro266=)	NC_000004.11:g.111539437C>T	(Likely) benign	1 lab	233e974bc4
12:125270929 SCARB1 G>A	12	125270929	125270929	G	A	SCARB1	c.1375C>T	NM_005505.5	NP_005496.4:p.(Pro459Ser)	NC_000012.11:g.125270929G>A	(Likely) benign	1 lab	233fbfa120
2:44051121 ABCG5 G>A	2	44051121	44051121	G	A	ABCG5	c.1255C>T	NM_022436.3	NP_071881.1:p.(Arg419Cys)	NC_000002.11:g.44051121G>A	(Likely) pathogenic	1 lab	234032a88c
14:64473899 SYNE2 A>G	14	64473899	64473899	A	G	SYNE2	c.4536A>G	NM_182914.3	NP_878918.2:p.(Thr1512=)	NC_000014.8:g.64473899A>G	(Likely) benign	1 lab	234052881f
11:1017744 MUC6 T>C	11	1017744	1017744	T	C	MUC6	c.5057A>G	NM_005961.3	NP_005952.2:p.(Asn1686Ser)	NC_000011.9:g.1017744T>C	(Likely) benign	1 lab	23407507ce
12:95462220 MISSING A>Alt too long to show for this DUP	12	95462220	95620742	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.95462221_95620742dup	VUS	1 lab	23432b4982
14:76198776 TTLL5 A>G	14	76198776	76198776	A	G	TTLL5	c.1124+14A>G	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76198776A>G	(Likely) benign	1 lab	2346907c79
16:86601315 FOXC2 C>T	16	86601315	86601315	C	T	FOXC2	c.374C>T	NM_005251.3	NP_005242.1:p.(Ser125Leu)	NC_000016.9:g.86601315C>T	(Likely) pathogenic	1 lab	2347938ef3
5:127625354 FBN2 G>T	5	127625354	127625354	G	T	FBN2	c.6511+220C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625354G>T	(Likely) benign	1 lab	234b7b778c
15:23890919 MAGEL2 T>C	15	23890919	23890919	T	C	MAGEL2	c.1971A>G	NM_019066.5	NP_061939.3:p.(Lys657=)	NC_000015.9:g.23890919T>C	(Likely) benign	1 lab	234db7e0d4
5:149449545 CSF1R C>T	5	149449545	149449545	C	T	CSF1R	c.1401G>A	NM_005211.4	NP_005202.2:p.(Thr467=)	NC_000005.9:g.149449545C>T	(Likely) benign	1 lab	234f0ba3d9
12:32945372 PKP2 A>AGT	12	32945372	32945375	A	AGT	PKP2	c.2630_2631dup	NM_004572.4	NP_004563.2:p.(Ser878ThrfsTer54)	NC_000012.11:g.32945374_32945375dup	(Likely) pathogenic	1 lab	23525aae67
17:41219677 BRCA1 G>A	17	41219677	41219677	G	A	BRCA1	c.5022C>T	NM_007294.4	NP_009225.1:p.(Ile1674=)	NC_000017.10:g.41219677G>A	(Likely) benign	1 lab	23583879f7
9:107602560 ABCA1 T>A	9	107602560	107602560	T	A	ABCA1	c.1054A>T	NM_005502.4	NP_005493.2:p.(Thr352Ser)	NC_000009.11:g.107602560T>A	VUS	1 lab	235b3f326b
7:92123685 PEX1 A>G	7	92123685	92123685	A	G	PEX1	c.2328T>C	NM_001282678.2	NP_001269607.1:p.(Ser776=)	NC_000007.13:g.92123685A>G	(Likely) benign	1 lab	235dee66d1
X:85156195 CHM T>G	X	85156195	85156195	T	G	CHM	c.801-2A>C	NM_001362517.1	NP_001349446.1:p.?	NC_000023.10:g.85156195T>G	(Likely) pathogenic	1 lab	235ff4e952
1:236889320 ACTN2 G>T	1	236889320	236889320	G	T	ACTN2	c.536G>T	NM_001103.4	NP_001094.1:p.(Ser179Ile)	NC_000001.10:g.236889320G>T	VUS	1 lab	236f6e715e
2:179483393 TTN C>T	2	179483393	179483393	C	T	TTN	c.39180G>A	NM_133378.4	NP_596869.4:p.(Lys13060=)	NC_000002.11:g.179483393C>T	(Likely) benign	1 lab	2364034bbe
6:112430638 LAMA4 T>C	6	112430638	112430638	T	C	LAMA4	c.*2A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112430638T>C	(Likely) benign	1 lab	2364cd0e08
8:75263706 GDAP1 TG>T	8	75263706	75263707	TG	T	GDAP1	c.310+6del	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75263707del	(Likely) benign	1 lab	236748d442
2:167060980 SCN1A-AS1 GAAAC>G	2	167060980	167060991	GAAAC	G	SCN1A-AS1	n.611+4660_611+4663del	NR_110260.1		NC_000002.11:g.167060988_167060991del	(Likely) benign	1 lab	23675f1b91
10:112590557 RBM20 G>A	10	112590557	112590557	G	A	RBM20	c.3452-262G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112590557G>A	(Likely) benign	1 lab	23810c7f29
11:47371928 MYBPC3 G>A	11	47371928	47371928	G	A	MYBPC3	c.406+125C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371928G>A	(Likely) benign	1 lab	236995604a
2:179433406 TTN T>G	2	179433406	179433406	T	G	TTN	c.77453A>C	NM_001267550.2	NP_001254479.2:p.(Glu25818Ala)	NC_000002.11:g.179433406T>G	VUS	1 lab	236b392fa3
1:161276668 MPZ C>T	1	161276668	161276668	C	T	MPZ	c.278G>A	NM_000530.8	NP_000521.2:p.(Gly93Glu)	NC_000001.10:g.161276668C>T	(Likely) pathogenic	1 lab	236cb16914
19:39009877 RYR1 C>T	19	39009877	39009877	C	T	RYR1	c.10042C>T	NM_000540.3	NP_000531.2:p.(Arg3348Cys)	NC_000019.9:g.39009877C>T	VUS	1 lab	2372112490
2:21256203 APOB T>G	2	21256203	21256203	T	G	APOB	c.1092A>C	NM_000384.3	NP_000375.3:p.(Thr364=)	NC_000002.11:g.21256203T>G	(Likely) benign	1 lab	2372ca73a0
15:58838165 LIPC G>A	15	58838165	58838165	G	A	LIPC	c.799G>A	NM_000236.3	NP_000227.2:p.(Gly267Ser)	NC_000015.9:g.58838165G>A	VUS	1 lab	237325a12c
6:150716651 IYD C>T	6	150716651	150716651	C	T	IYD	c.748C>T	NM_001164694.2	NP_001158166.1:p.(Pro250Ser)	NC_000006.11:g.150716651C>T	VUS	1 lab	237551d900
2:21231248 APOB G>T	2	21231248	21231248	G	T	APOB	c.8492C>A	NM_000384.3	NP_000375.3:p.(Ser2831Tyr)	NC_000002.11:g.21231248G>T	VUS	1 lab	237563c8aa
9:137666400 COL5A1 G>A	9	137666400	137666400	G	A	COL5A1	c.2332-305G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137666400G>A	(Likely) benign	1 lab	237ba15898
7:6027052 PMS2 T>A	7	6027052	6027052	T	A	PMS2	c.1344A>T	NM_000535.7	NP_000526.2:p.(Gly448=)	NC_000007.13:g.6027052T>A	(Likely) benign	1 lab	237d4ad1b2
1:3328729 PRDM16 G>A	1	3328729	3328729	G	A	PRDM16	c.1968G>A	NM_022114.4	NP_071397.3:p.(Pro656=)	NC_000001.10:g.3328729G>A	(Likely) benign	1 lab	2386aeceda
8:61655527 CHD7 A>G	8	61655527	61655527	A	G	CHD7	c.1536A>G	NM_017780.4	NP_060250.2:p.(Pro512=)	NC_000008.10:g.61655527A>G	(Likely) benign	1 lab	238a343c78
11:8118774 TUB G>A	11	8118774	8118774	G	A	TUB	c.853-1G>A	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8118774G>A	VUS	1 lab	238b64b187
11:128786603 KCNJ5 A>C	11	128786603	128786603	A	C	KCNJ5	c.1237A>C	NM_001354169.2	NP_001341098.1:p.(Arg413=)	NC_000011.9:g.128786603A>C	(Likely) benign	1 lab	239299b2a1
1:879413 SAMD11 G>A	1	879413	879413	G	A	SAMD11	c.2418G>A	NM_001385640.1	NP_001372569.1:p.(Thr806=)	NC_000001.10:g.879413G>A	(Likely) benign	1 lab	2392e4e701
16:929711 LMF1 C>T	16	929711	929711	C	T	LMF1	c.357G>A	NM_001352018.2	NP_001338947.1:p.(Ala119=)	NC_000016.9:g.929711C>T	(Likely) benign	1 lab	23955e9b7e
15:48797297 FBN1 C>T	15	48797297	48797297	C	T	FBN1	c.1885G>A	NM_000138.5	NP_000129.3:p.(Val629Ile)	NC_000015.9:g.48797297C>T	VUS	1 lab	239de9245e
19:11222335 LDLR G>A	19	11222335	11222335	G	A	LDLR	c.1186+20G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222335G>A	(Likely) benign	1 lab	23a252cbed
22:51135983 SHANK3 A>C	22	51135983	51135983	A	C	SHANK3	c.1567-2A>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135983A>C	(Likely) benign	1 lab	23a27fda24
20:31020693 ASXL1 T>G	20	31020693	31020693	T	G	ASXL1	c.990T>G	NM_015338.6	NP_056153.2:p.(Thr330=)	NC_000020.10:g.31020693T>G	(Likely) benign	1 lab	23a316b60d
11:1017013 MUC6 C>T	11	1017013	1017013	C	T	MUC6	c.5788G>A	NM_005961.3	NP_005952.2:p.(Val1930Ile)	NC_000011.9:g.1017013C>T	(Likely) benign	1 lab	23a334520a
9:125487021 OR1L4 G>T	9	125487021	125487021	G	T	OR1L4	c.753G>T	NM_001005235.1	NP_001005235.1:p.(Leu251=)	NC_000009.11:g.125487021G>T	(Likely) benign	1 lab	23a4dbb607
1:25883708 LDLRAP1 C>T	1	25883708	25883708	C	T	LDLRAP1	c.409C>T	NM_015627.3	NP_056442.2:p.(His137Tyr)	NC_000001.10:g.25883708C>T	VUS	1 lab	23a53b0a82
15:45408027 DUOXA2 A>C	15	45408027	45408027	A	C	DUOXA2	c.178A>C	NM_207581.4	NP_997464.2:p.(Ser60Arg)	NC_000015.9:g.45408027A>C	VUS	1 lab	23a6c2b446
12:53729491 SP7 T>G	12	53729491	53729491	T	G	SP7	c.-47-14A>C	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53729491T>G	(Likely) benign	1 lab	23ac2650ea
4:16077309 PROM1 C>A	4	16077309	16077309	C	A	PROM1	c.220+1G>T	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16077309C>A	(Likely) pathogenic	1 lab	23ac8c6ae7
11:68703718 IGHMBP2 T>C	11	68703718	68703718	T	C	IGHMBP2	c.1770T>C	NM_002180.3	NP_002171.2:p.(Phe590=)	NC_000011.9:g.68703718T>C	(Likely) benign	1 lab	23af41d542
1:74737345 TNNI3K G>A	1	74737345	74737345	G	A	TNNI3K	c.397G>A	NM_015978.3	NP_057062.1:p.(Gly133Ser)	NC_000001.10:g.74737345G>A	(Likely) benign	1 lab	23af6876fb
2:135965140 MISSING A>Alt too long to show for this DUP	2	135965140	136362475	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.135965141_136362475dup	VUS	1 lab	23b06de6eb
15:48805757 FBN1 G>A	15	48805757	48805757	G	A	FBN1	c.1577C>T	NM_000138.5	NP_000129.3:p.(Thr526Ile)	NC_000015.9:g.48805757G>A	VUS	1 lab	23b21a5285
16:77323235 ADAMTS18 C>G	16	77323235	77323235	C	G	ADAMTS18	c.3476G>C	NM_199355.4	NP_955387.1:p.(Ser1159Thr)	NC_000016.9:g.77323235C>G	(Likely) benign	1 lab	23b352f8bf
16:49525190 ZNF423 T>G	16	49525190	49525190	T	G	ZNF423	c.3875A>C	NM_001379286.1	NP_001366215.1:p.(Gln1292Pro)	NC_000016.9:g.49525190T>G	(Likely) benign	1 lab	23b860a474
13:50121311 RCBTB1 C>CA	13	50121311	50121324	C	CA	RCBTB1	c.466+2282dup	NM_001352506.2	NP_001339435.1:p.?	NC_000013.10:g.50121324dup	(Likely) benign	1 lab	23b900023c
6:72974670 RIMS1 C>T	6	72974670	72974670	C	T	RIMS1	c.3117-8C>T	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72974670C>T	(Likely) benign	1 lab	23b9386897
7:148080961 CNTNAP2 C>T	7	148080961	148080961	C	T	CNTNAP2	c.3696C>T	NM_014141.6	NP_054860.1:p.(His1232=)	NC_000007.13:g.148080961C>T	(Likely) benign	1 lab	23baeea05b
7:138601663 KIAA1549 G>T	7	138601663	138601663	G	T	KIAA1549	c.2709C>A	NM_001164665.2	NP_001158137.1:p.(Asp903Glu)	NC_000007.13:g.138601663G>T	(Likely) benign	1 lab	23bba767a3
12:46233155 ARID2 C>A	12	46233155	46233155	C	A	ARID2	c.1374C>A	NM_152641.4	NP_689854.2:p.(Gly458=)	NC_000012.11:g.46233155C>A	(Likely) benign	1 lab	23bbe62a75
5:127648044 FBN2 C>A	5	127648044	127648044	C	A	FBN2	c.4879+282G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127648044C>A	(Likely) benign	1 lab	23bc4f643c
2:27693855 IFT172 G>A	2	27693855	27693855	G	A	IFT172	c.1632C>T	NM_015662.3	NP_056477.1:p.(Asn544=)	NC_000002.11:g.27693855G>A	(Likely) benign	1 lab	23c08d8dab
3:158388765 MISSING Ref too long to show for this DEL>A	3	158388765	158477228	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.158388766_158477228del	(Likely) pathogenic	1 lab	23c1858e1b
X:70444215 GJB1 C>T	X	70444215	70444215	C	T	GJB1	c.658C>T	NM_000166.6	NP_000157.1:p.(Arg220Ter)	NC_000023.10:g.70444215C>T	(Likely) pathogenic	1 lab	23c4554816
4:100533913 MTTP C>T	4	100533913	100533913	C	T	MTTP	c.1990-157C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100533913C>T	(Likely) benign	1 lab	23c8f5568a
6:66204614 EYS A>G	6	66204614	66204614	A	G	EYS	c.690T>C	NM_001292009.2	NP_001278938.1:p.(Asn230=)	NC_000006.11:g.66204614A>G	(Likely) benign	1 lab	23ca8adfb6
12:122255720 SETD1B G>A	12	122255720	122255720	G	A	SETD1B	c.3328G>A	NM_001353345.2	NP_001340274.1:p.(Asp1110Asn)	NC_000012.11:g.122255720G>A	(Likely) benign	1 lab	23cbf36a85
5:127638759 FBN2 A>G	5	127638759	127638759	A	G	FBN2	c.5823T>C	NM_001999.4	NP_001990.2:p.(His1941=)	NC_000005.9:g.127638759A>G	(Likely) benign	1 lab	23d24e9136
2:21232921 APOB T>C	2	21232921	21232921	T	C	APOB	c.6819A>G	NM_000384.3	NP_000375.3:p.(Ile2273Met)	NC_000002.11:g.21232921T>C	VUS	1 lab	23d59dc0bf
10:13340253 PHYH G>A	10	13340253	13340253	G	A	PHYH	c.-225-8C>T	NM_001323080.2	NP_001310009.1:p.?	NC_000010.10:g.13340253G>A	(Likely) benign	1 lab	23d7f8fc1f
16:973332 LMF1 C>T	16	973332	973332	C	T	LMF1	c.115+10659G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.973332C>T	(Likely) benign	1 lab	23d903d120
8:158048 MISSING Ref too long to show for this DEL>C	8	158048	6938052	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158051_6938052del	(Likely) pathogenic	1 lab	23da943fcd
20:61986321 MISSING C>Alt too long to show for this DUP	20	61986321	62018239	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.61986322_62018239dup	VUS	1 lab	23dbec87f9
19:50909466 POLD1 G>T	19	50909466	50909466	G	T	POLD1	c.1270G>T	NM_001256849.1	NP_001243778.1:p.(Val424Leu)	NC_000019.9:g.50909466G>T	(Likely) benign	1 lab	23e0da3105
22:31331279 MORC2 G>A	22	31331279	31331279	G	A	MORC2	c.1582C>T	NM_014941.3	NP_055756.1:p.(Leu528=)	NC_000022.10:g.31331279G>A	(Likely) benign	1 lab	23e2095211
16:930101 LMF1 G>A	16	930101	930101	G	A	LMF1	c.331-364C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.930101G>A	(Likely) benign	1 lab	23e3f9575e
6:42156359 GUCA1B A>G	6	42156359	42156359	A	G	GUCA1B	c.318T>C	NM_002098.6	NP_002089.4:p.(Asn106=)	NC_000006.11:g.42156359A>G	(Likely) benign	1 lab	23e51d5fb3
19:11223967 LDLR C>A	19	11223967	11223967	C	A	LDLR	c.1200C>A	NM_000527.5	NP_000518.1:p.(Tyr400Ter)	NC_000019.9:g.11223967C>A	(Likely) pathogenic	1 lab	23e60bbf32
8:144295580 GPIHBP1 C>T	8	144295580	144295580	C	T	GPIHBP1	c.53-117C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295580C>T	(Likely) benign	1 lab	23ea18495a
18:29172864 TTR C>T	18	29172864	29172864	C	T	TTR	c.75C>T	NM_000371.4	NP_000362.1:p.(Thr25=)	NC_000018.9:g.29172864C>T	(Likely) benign	1 lab	23edd3437a
10:18828568 CACNB2 G>A	10	18828568	18828568	G	A	CACNB2	c.1733G>A	NM_000724.4	NP_000715.2:p.(Arg578His)	NC_000010.10:g.18828568G>A	VUS	1 lab	23edf915ab
15:83198902 MISSING T>Alt too long to show for this DUP	15	83198902	83395602	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.83198903_83395602dup	VUS	1 lab	23f2c51863
X:149639324 MAMLD1 ACAG>A	X	149639324	149639350	ACAG	A	MAMLD1	c.1503_1505del	NM_005491.4	NP_005482.2:p.(Gln502del)	NC_000023.10:g.149639348_149639350del	(Likely) benign	1 lab	23f5609449
2:21249803 APOB A>G	2	21249803	21249803	A	G	APOB	c.2101T>C	NM_000384.3	NP_000375.3:p.(Leu701=)	NC_000002.11:g.21249803A>G	(Likely) benign	1 lab	23f585760e
12:31242395 DDX11 G>A	12	31242395	31242395	G	A	DDX11	c.851G>A	NM_030653.4	NP_085911.2:p.(Arg284His)	NC_000012.11:g.31242395G>A	(Likely) benign	1 lab	23f646768e
10:68526017 CTNNA3 C>T	10	68526017	68526017	C	T	CTNNA3	c.1281+5G>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68526017C>T	(Likely) benign	1 lab	23f925ed07
1:46663504 POMGNT1 C>T	1	46663504	46663504	C	T	POMGNT1	c.-11G>A	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46663504C>T	(Likely) benign	1 lab	23fe70eb3a
18:31324215 ASXL3 C>G	18	31324215	31324215	C	G	ASXL3	c.4403C>G	NM_030632.3	NP_085135.1:p.(Ser1468Ter)	NC_000018.9:g.31324215C>G	(Likely) pathogenic	1 lab	2402024411
8:133883734 TG G>A	8	133883734	133883734	G	A	TG	c.416G>A	NM_003235.5	NP_003226.4:p.(Trp139Ter)	NC_000008.10:g.133883734G>A	(Likely) pathogenic	1 lab	240659720b
15:63349318 TPM1 G>C	15	63349318	63349318	G	C	TPM1	c.374+1G>C	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63349318G>C	VUS	1 lab	246a21bcbc
8:144297361 GPIHBP1 G>C	8	144297361	144297361	G	C	GPIHBP1	c.523G>C	NM_178172.6	NP_835466.2:p.(Gly175Arg)	NC_000008.10:g.144297361G>C	VUS	1 lab	240935b1a9
16:67973803 LCAT G>T	16	67973803	67973803	G	T	LCAT	c.*4C>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67973803G>T	VUS	1 lab	24094650b3
18:21331054 LAMA3 T>C	18	21331054	21331054	T	C	LAMA3	c.855+2T>C	NM_001127717.4	NP_001121189.2:p.?	NC_000018.9:g.21331054T>C	(Likely) pathogenic	1 lab	24134d416b
5:37243129 CPLANE1 T>C	5	37243129	37243129	T	C	CPLANE1	c.663A>G	NM_023073.4	NP_075561.3:p.(Val221=)	NC_000005.9:g.37243129T>C	(Likely) benign	1 lab	241d1b291b
X:107979515 IRS4 C>T	X	107979515	107979515	C	T	IRS4	c.60G>A	NM_003604.2	NP_003595.1:p.(Ala20=)	NC_000023.10:g.107979515C>T	(Likely) benign	1 lab	241d1b291d
2:179403279 TTN T>C	2	179403279	179403279	T	C	TTN	c.99277A>G	NM_001267550.2	NP_001254479.2:p.(Thr33093Ala)	NC_000002.11:g.179403279T>C	VUS	1 lab	241d9192f0
11:47372172 MYBPC3 G>A	11	47372172	47372172	G	A	MYBPC3	c.293-6C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372172G>A	(Likely) benign	1 lab	241f6a240a
11:76893494 MYO7A T>C	11	76893494	76893494	T	C	MYO7A	c.3134T>C	NM_000260.4	NP_000251.3:p.(Ile1045Thr)	NC_000011.9:g.76893494T>C	VUS	1 lab	2425866938
17:58235507 CA4 G>A	17	58235507	58235507	G	A	CA4	c.580+19G>A	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58235507G>A	(Likely) benign	1 lab	2426e5c10b
22:38516754 PLA2G6 G>A	22	38516754	38516754	G	A	PLA2G6	c.1208+12C>T	NM_001349867.2	NP_001336796.1:p.?	NC_000022.10:g.38516754G>A	(Likely) benign	1 lab	242ba46405
1:150316688 PRPF3 C>T	1	150316688	150316688	C	T	PRPF3	c.1072C>T	NM_001350529.1	NP_001337458.1:p.(Pro358Ser)	NC_000001.10:g.150316688C>T	(Likely) pathogenic	1 lab	242d5461ea
11:116661249 APOA5 G>T	11	116661249	116661249	G	T	APOA5	c.696C>A	NM_052968.5	NP_443200.2:p.(Ser232=)	NC_000011.9:g.116661249G>T	(Likely) benign	1 lab	242ebaf813
10:17278361 VIM GA>G	10	17278361	17278364	GA	G	VIM	c.1345del	NM_003380.5	NP_003371.2:p.(Thr449LeufsTer57)	NC_000010.10:g.17278364del	VUS	1 lab	243088cf0e
5:149324063 PDE6A G>T	5	149324063	149324063	G	T	PDE6A	c.174C>A	NM_000440.3	NP_000431.2:p.(Ser58Arg)	NC_000005.9:g.149324063G>T	VUS	1 lab	2433999324
4:106307707 PPA2 G>A	4	106307707	106307707	G	A	PPA2	c.939+17C>T	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106307707G>A	(Likely) benign	1 lab	2433af13f0
9:107581872 ABCA1 C>T	9	107581872	107581872	C	T	ABCA1	c.3236G>A	NM_005502.4	NP_005493.2:p.(Arg1079Gln)	NC_000009.11:g.107581872C>T	VUS	1 lab	2436c256bf
6:107040040 RTN4IP1 G>GT	6	107040040	107040044	G	GT	RTN4IP1	c.804dup	NM_032730.5	NP_116119.2:p.(Pro269ThrfsTer3)	NC_000006.11:g.107040044dup	(Likely) pathogenic	1 lab	24377e2e9c
3:180337598 CCDC39 C>T	3	180337598	180337598	C	T	CCDC39	c.2158+1G>A	NM_181426.2	NP_852091.1:p.?	NC_000003.11:g.180337598C>T	(Likely) pathogenic	1 lab	24388466f9
12:1005743 WNK1 A>G	12	1005743	1005743	A	G	WNK1	c.6870A>G	NM_001184985.2	NP_001171914.1:p.(Pro2290=)	NC_000012.11:g.1005743A>G	(Likely) benign	1 lab	243a38e7a5
15:85097255 MISSING Ref too long to show for this DEL>C	15	85097255	85779567	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.85097256_85779567del	(Likely) pathogenic	1 lab	243ac2c50e
1:53676784 CPT2 G>A	1	53676784	53676784	G	A	CPT2	c.1438G>A	NM_000098.3	NP_000089.1:p.(Gly480Arg)	NC_000001.10:g.53676784G>A	VUS	1 lab	243be6a791
22:50898845 SBF1 C>G	22	50898845	50898845	C	G	SBF1	c.3147-8G>C	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50898845C>G	(Likely) benign	1 lab	243c9e653d
15:73617412 HCN4 T>C	15	73617412	73617412	T	C	HCN4	c.1862A>G	NM_005477.3	NP_005468.1:p.(Tyr621Cys)	NC_000015.9:g.73617412T>C	VUS	1 lab	24419ae915
6:76660786 IMPG1 C>T	6	76660786	76660786	C	T	IMPG1	c.1317G>A	NM_001563.4	NP_001554.2:p.(Met439Ile)	NC_000006.11:g.76660786C>T	(Likely) benign	1 lab	24437912c9
7:150655338 KCNH2 C>T	7	150655338	150655338	C	T	KCNH2	c.725G>A	NM_000238.4	NP_000229.1:p.(Arg242His)	NC_000007.13:g.150655338C>T	VUS	1 lab	24469be891
2:73718154 ALMS1 C>G	2	73718154	73718154	C	G	ALMS1	c.9071C>G	NM_015120.4	NP_055935.4:p.(Ser3024Ter)	NC_000002.11:g.73718154C>G	(Likely) pathogenic	1 lab	2447328fef
9:79917816 VPS13A T>C	9	79917816	79917816	T	C	VPS13A	c.3813-15T>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79917816T>C	(Likely) benign	1 lab	244735e9f5
8:59409522 CYP7A1 C>A	8	59409522	59409522	C	A	CYP7A1	c.549G>T	NM_000780.4	NP_000771.2:p.(Gly183=)	NC_000008.10:g.59409522C>A	(Likely) benign	1 lab	24486f667a
21:34925245 SON TC>T	21	34925245	34925248	TC	T	SON	c.3711del	NM_138927.4	NP_620305.3:p.(Ser1238GlnfsTer3)	NC_000021.8:g.34925248del	(Likely) pathogenic	1 lab	2448baf50e
1:74834692 TNNI3K A>G	1	74834692	74834692	A	G	TNNI3K	c.1322-14A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74834692A>G	VUS	1 lab	244ace85f1
12:7044838 ATN1 C>T	12	7044838	7044838	C	T	ATN1	c.408C>T	NM_001007026.2	NP_001007027.1:p.(Tyr136=)	NC_000012.11:g.7044838C>T	(Likely) benign	1 lab	244dd25602
4:100522458 MTTP T>TTTACTCATACATAAAAA	4	100522458	100522461	T	TTTACTCATACATAAAAA	MTTP	c.1237-304_1237-303insACTCATACATAAAAATT	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522460_100522461insACTCATACATAAAAATT	(Likely) benign	1 lab	2452119249
19:1221281 STK11 G>T	19	1221281	1221281	G	T	STK11	c.804G>T	NM_000455.5	NP_000446.1:p.(Gly268=)	NC_000019.9:g.1221281G>T	VUS	1 lab	24539f2f15
16:46766255 MYLK3 GGGCCCCAACCTCGTGGTCATTGTCGTCACTCCTGGCCAAGCTTGGTCTCGTGCCAGGCTC>G	16	46766255	46766322	GGGCCCCAACCTCGTGGTCATTGTCGTCACTCCTGGCCAAGCTTGGTCTCGTGCCAGGCTC	G	MYLK3	c.1267_1326del	NM_182493.3	NP_872299.2:p.(Glu423_Ala442del)	NC_000016.9:g.46766263_46766322del	VUS	1 lab	24559426c1
11:66333855 CTSF C>T	11	66333855	66333855	C	T	CTSF	c.628G>A	NM_003793.4	NP_003784.2:p.(Val210Ile)	NC_000011.9:g.66333855C>T	(Likely) benign	1 lab	245c8159df
17:1559679 PRPF8 T>C	17	1559679	1559679	T	C	PRPF8	c.5793+7A>G	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1559679T>C	(Likely) benign	1 lab	245daae37a
15:28230318 OCA2 C>T	15	28230318	28230318	C	T	OCA2	c.1256G>A	NM_000275.3	NP_000266.2:p.(Arg419Gln)	NC_000015.9:g.28230318C>T	(Likely) benign	1 lab	246155d714
17:43706884 MISSING Ref too long to show for this DEL>G	17	43706884	44297143	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.43706886_44297143del	(Likely) pathogenic	1 lab	2463dc7050
5:149457819 CSF1R C>T	5	149457819	149457819	C	T	CSF1R	c.593-8G>A	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149457819C>T	(Likely) pathogenic	1 lab	24644fc1c8
18:25565619 CDH2 T>G	18	25565619	25565619	T	G	CDH2	c.1848A>C	NM_001792.5	NP_001783.2:p.(Pro616=)	NC_000018.9:g.25565619T>G	(Likely) benign	1 lab	2465f57ee6
2:220493236 SLC4A3 C>T	2	220493236	220493236	C	T	SLC4A3	c.161C>T	NM_001326559.2	NP_001313488.2:p.(Pro54Leu)	NC_000002.11:g.220493236C>T	(Likely) benign	1 lab	2466afb444
11:47370459 MYBPC3 TTATATA>T	11	47370459	47370478	TTATATA	T	MYBPC3	c.655-373_655-368del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370473_47370478del	(Likely) benign	1 lab	24685ae7aa
5:90051002 ADGRV1 G>A	5	90051002	90051002	G	A	ADGRV1	c.11580G>A	NM_032119.4	NP_115495.3:p.(Pro3860=)	NC_000005.9:g.90051002G>A	(Likely) benign	1 lab	246c9f9394
18:34205688 FHOD3 A>G	18	34205688	34205688	A	G	FHOD3	c.1172A>G	NM_001281740.3	NP_001268669.1:p.(Asn391Ser)	NC_000018.9:g.34205688A>G	VUS	1 lab	24706cebfc
20:13074235 SPTLC3 G>A	20	13074235	13074235	G	A	SPTLC3	c.826+11G>A	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13074235G>A	(Likely) benign	1 lab	25b8930154
1:64114301 PGM1 T>C	1	64114301	64114301	T	C	PGM1	c.1312T>C	NM_001172818.1	NP_001166289.1:p.(Tyr438His)	NC_000001.10:g.64114301T>C	(Likely) benign	1 lab	24774cda79
19:17985453 SLC5A5 G>GCCTAAC	19	17985453	17985454	G	GCCTAAC	SLC5A5	c.476-20_476-19insCCTAAC	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17985453_17985454insCCTAAC	(Likely) benign	1 lab	247b822905
19:40901790 PRX C>T	19	40901790	40901790	C	T	PRX	c.2469G>A	NM_181882.3	NP_870998.2:p.(Ala823=)	NC_000019.9:g.40901790C>T	(Likely) benign	1 lab	247bba1698
15:52280437 MISSING T>Alt too long to show for this DUP	15	52280437	52339378	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.52280439_52339378dup	VUS	1 lab	247f926d3c
12:33049556 PKP2 T>C	12	33049556	33049556	T	C	PKP2	c.110A>G	NM_004572.4	NP_004563.2:p.(Lys37Arg)	NC_000012.11:g.33049556T>C	VUS	1 lab	2480600b16
8:117879010 RAD21 GA>G	8	117879010	117879018	GA	G	RAD21	c.-32-11del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117879018del	(Likely) benign	1 lab	2482352fa8
6:79735354 PHIP G>A	6	79735354	79735354	G	A	PHIP	c.823-18C>T	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79735354G>A	(Likely) benign	1 lab	2483b7126c
1:1168491 B3GALT6 C>T	1	1168491	1168491	C	T	B3GALT6	c.833C>T	NM_080605.4	NP_542172.2:p.(Thr278Met)	NC_000001.10:g.1168491C>T	VUS	1 lab	2485fc71b8
10:64995978 JMJD1C Ref too long to show for this DEL>C	10	64995978	65024485	Ref too long to show for this DEL	C	JMJD1C	c.375_448-16236del	NM_032776.3	NP_116165.1:p.?	NC_000010.10:g.64995981_65024485del	VUS	1 lab	2486e3e612
10:125508872 CPXM2 Ref too long to show for this DEL>G	10	125508872	125539823	Ref too long to show for this DEL	G	CPXM2	c.890-51_2018-2340del	NM_198148.3	NP_937791.2:p.?	NC_000010.10:g.125508874_125539823del	VUS	1 lab	2488554c65
2:179481247 TTN C>T	2	179481247	179481247	C	T	TTN	c.48271G>A	NM_001267550.2	NP_001254479.2:p.(Val16091Ile)	NC_000002.11:g.179481247C>T	VUS	1 lab	248bb0f4e5
11:50003627 OR4C12 G>A	11	50003627	50003627	G	A	OR4C12	c.411C>T	NM_001005270.4	NP_001005270.3:p.(Ser137=)	NC_000011.9:g.50003627G>A	(Likely) benign	1 lab	24904a7463
10:69881615 MYPN T>C	10	69881615	69881615	T	C	MYPN	c.420T>C	NM_032578.4	NP_115967.2:p.(Tyr140=)	NC_000010.10:g.69881615T>C	(Likely) benign	1 lab	249094e5cb
8:59409154 CYP7A1 G>A	8	59409154	59409154	G	A	CYP7A1	c.908+9C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59409154G>A	(Likely) benign	1 lab	24922bc9b0
1:55529056 PCSK9 C>T	1	55529056	55529056	C	T	PCSK9	c.1878C>T	NM_174936.4	NP_777596.2:p.(Cys626=)	NC_000001.10:g.55529056C>T	(Likely) benign	1 lab	2496763d09
16:81398610 GAN T>C	16	81398610	81398610	T	C	GAN	c.1268T>C	NM_022041.4	NP_071324.1:p.(Ile423Thr)	NC_000016.9:g.81398610T>C	(Likely) pathogenic	1 lab	249946d819
15:76763514 SCAPER C>A	15	76763514	76763514	C	A	SCAPER	c.2340+39G>T	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.76763514C>A	(Likely) benign	1 lab	249965c74a
6:35473923 TULP1 C>T	6	35473923	35473923	C	T	TULP1	c.856G>A	NM_003322.6	NP_003313.3:p.(Val286Met)	NC_000006.11:g.35473923C>T	VUS	1 lab	249b1d1da2
9:95618605 ZNF484 T>TA	9	95618605	95618617	T	TA	ZNF484	c.-93-6dup	NM_001261459.3	NP_001248388.1:p.?	NC_000009.11:g.95618617dup	(Likely) benign	1 lab	249b282e29
6:157502288 ARID1B CAA>C	6	157502288	157502291	CAA	C	ARID1B	c.3572_3573del	NM_001374820.1	NP_001361749.1:p.(Lys1191ArgfsTer9)	NC_000006.11:g.157502290_157502291del	(Likely) pathogenic	1 lab	249bcc8e84
2:179644005 TTN C>T	2	179644005	179644005	C	T	TTN	c.3914G>A	NM_133378.4	NP_596869.4:p.(Gly1305Glu)	NC_000002.11:g.179644005C>T	VUS	1 lab	249f90a1b0
10:73285361 MISSING Ref too long to show for this DEL>C	10	73285361	73887668	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.73285362_73887668del	VUS	1 lab	24a8cb6a58
9:107665963 ABCA1 T>A	9	107665963	107665963	T	A	ABCA1	c.-3A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665963T>A	(Likely) benign	1 lab	24aa634f29
1:236850173 ACTN2 CGT>C	1	236850173	236850176	CGT	C	ACTN2	c.126+76_126+77del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236850175_236850176del	(Likely) benign	1 lab	24aab4a11b
8:10468760 RP1L1 G>A	8	10468760	10468760	G	A	RP1L1	c.2848C>T	NM_178857.6	NP_849188.4:p.(Arg950Cys)	NC_000008.10:g.10468760G>A	(Likely) benign	1 lab	24ab513d47
14:64443258 SYNE2 CTT>C	14	64443258	64443277	CTT	C	SYNE2	c.1129-5_1129-4del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64443276_64443277del	(Likely) benign	1 lab	24aba80c1a
16:2122297 TSC2 G>C	16	2122297	2122297	G	C	TSC2	c.2153G>C	NM_000548.5	NP_000539.2:p.(Arg718Pro)	NC_000016.9:g.2122297G>C	(Likely) benign	1 lab	24ad560836
15:75183015 MPI T>A	15	75183015	75183015	T	A	MPI	c.144+20T>A	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75183015T>A	(Likely) benign	1 lab	24b0ee279f
18:47109974 LIPG C>A	18	47109974	47109974	C	A	LIPG	c.1206C>A	NM_006033.4	NP_006024.1:p.(Thr402=)	NC_000018.9:g.47109974C>A	(Likely) benign	1 lab	24b1b56a13
7:92131191 PEX1 T>C	7	92131191	92131191	T	C	PEX1	c.1792+13A>G	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92131191T>C	(Likely) benign	1 lab	24b25d5e49
19:1440230 RPS15 C>G	19	1440230	1440230	C	G	RPS15	c.323C>G	NM_001308226.2	NP_001295155.1:p.(Thr108Ser)	NC_000019.9:g.1440230C>G	VUS	1 lab	24b4920b16
10:73538008 CDH23 C>A	10	73538008	73538008	C	A	CDH23	c.5130C>A	NM_022124.6	NP_071407.4:p.(Ile1710=)	NC_000010.10:g.73538008C>A	(Likely) benign	1 lab	24b4a2559b
11:117053270 SIDT2 G>A	11	117053270	117053270	G	A	SIDT2	c.552G>A	NM_001040455.2	NP_001035545.1:p.(Ser184=)	NC_000011.9:g.117053270G>A	(Likely) benign	1 lab	24b7368ce4
5:172660508 NKX2-5 C>CAA	5	172660508	172660522	C	CAA	NKX2-5	c.335-6_335-5dup	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660521_172660522dup	(Likely) benign	1 lab	24b886e12c
X:13335670 MISSING Ref too long to show for this DEL>A	X	13335670	13348389	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.13335671_13348389del	VUS	1 lab	24b9a87a69
2:21249666 APOB A>G	2	21249666	21249666	A	G	APOB	c.2238T>C	NM_000384.3	NP_000375.3:p.(His746=)	NC_000002.11:g.21249666A>G	(Likely) benign	1 lab	24bad68737
17:61432186 TANC2 C>T	17	61432186	61432186	C	T	TANC2	c.1795C>T	NM_025185.4	NP_079461.2:p.(Arg599Ter)	NC_000017.10:g.61432186C>T	(Likely) pathogenic	1 lab	24c0113340
10:117359507 ATRNL1 A>Alt too long to show for this DUP	10	117359507	117421385	A	Alt too long to show for this DUP	ATRNL1	c.3795+50462_3796-65373dup	NM_207303.4	NP_997186.1:p.?	NC_000010.10:g.117359508_117421385dup	VUS	1 lab	24c1f63223
11:108158453 ATM T>C	11	108158453	108158453	T	C	ATM	c.4109+11T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108158453T>C	(Likely) benign	1 lab	24c52b5724
X:70443876 GJB1 C>T	X	70443876	70443876	C	T	GJB1	c.319C>T	NM_000166.6	NP_000157.1:p.(Arg107Trp)	NC_000023.10:g.70443876C>T	(Likely) pathogenic	1 lab	24c71c40d9
X:129782498 MISSING A>Alt too long to show for this DUP	X	129782498	130201674	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.129782499_130201674dup	VUS	1 lab	24c8ca8e64
14:64686125 SYNE2 G>T	14	64686125	64686125	G	T	SYNE2	c.19857G>T	NM_182914.3	NP_878918.2:p.(Leu6619=)	NC_000014.8:g.64686125G>T	(Likely) benign	1 lab	24cbab8e43
16:54319851 IRX3 C>A	16	54319851	54319851	C	A	IRX3	c.112G>T	NM_024336.3	NP_077312.2:p.(Ala38Ser)	NC_000016.9:g.54319851C>A	(Likely) benign	1 lab	24cc9ad95f
16:16302565 ABCC6 C>T	16	16302565	16302565	C	T	ABCC6	c.794+20G>A	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16302565C>T	(Likely) benign	1 lab	24cd22fa07
X:70443646 GJB1 T>A	X	70443646	70443646	T	A	GJB1	c.89T>A	NM_000166.6	NP_000157.1:p.(Ile30Asn)	NC_000023.10:g.70443646T>A	(Likely) pathogenic	1 lab	24cdf02f21
17:45229221 CDC27 C>T	17	45229221	45229221	C	T	CDC27	c.1039G>A	NM_001114091.4	NP_001107563.1:p.(Glu347Lys)	NC_000017.10:g.45229221C>T	(Likely) benign	1 lab	24d4be209e
10:248463 MISSING Ref too long to show for this DEL>A	10	248463	325008	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.248464_325008del	(Likely) pathogenic	1 lab	24d91f301d
7:92135670 PEX1 T>A	7	92135670	92135670	T	A	PEX1	c.1180-12A>T	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92135670T>A	(Likely) benign	1 lab	24dfaeb2b7
11:68700792 IGHMBP2 A>C	11	68700792	68700792	A	C	IGHMBP2	c.1261A>C	NM_002180.3	NP_002171.2:p.(Ser421Arg)	NC_000011.9:g.68700792A>C	VUS	1 lab	24e0eb108e
11:1775214 CTSD C>T	11	1775214	1775214	C	T	CTSD	c.972+10G>A	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1775214C>T	(Likely) benign	1 lab	24e11cd831
12:104714951 TXNRD1 Ref too long to show for this DEL>T	12	104714951	104743320	Ref too long to show for this DEL	T	TXNRD1	c.1074_*1121del	NM_001093771.3	NP_001087240.1:p.?	NC_000012.11:g.104714953_104743320del	VUS	1 lab	24e18bb0bc
10:64573251 EGR2 C>A	10	64573251	64573251	C	A	EGR2	c.1147G>T	NM_000399.5	NP_000390.2:p.(Asp383Tyr)	NC_000010.10:g.64573251C>A	(Likely) pathogenic	1 lab	24e35a97a4
14:36986996 NKX2-1 C>A	14	36986996	36986996	C	A	NKX2-1	c.603G>T	NM_003317.4	NP_003308.1:p.(Thr201=)	NC_000014.8:g.36986996C>A	VUS	1 lab	24e3c527de
19:11224356 LDLR G>T	19	11224356	11224356	G	T	LDLR	c.1504G>T	NM_000527.5	NP_000518.1:p.(Asp502Tyr)	NC_000019.9:g.11224356G>T	VUS	1 lab	24e5bb7b34
1:66037993 LEPR T>G	1	66037993	66037993	T	G	LEPR	c.371-16T>G	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66037993T>G	(Likely) benign	1 lab	24ea514926
1:103427443 COL11A1 G>C	1	103427443	103427443	G	C	COL11A1	c.3183C>G	NM_080629.3	NP_542196.2:p.(Pro1061=)	NC_000001.10:g.103427443G>C	(Likely) benign	1 lab	24ee836188
2:176983961 HOXD10 T>C	2	176983961	176983961	T	C	HOXD10	c.*2T>C	NM_002148.4	NP_002139.2:p.?	NC_000002.11:g.176983961T>C	(Likely) benign	1 lab	24f1e1f25d
16:11643308 LITAF A>G	16	11643308	11643308	A	G	LITAF	n.805T>C	NR_024320.2		NC_000016.9:g.11643308A>G	(Likely) pathogenic	1 lab	26eb4e5647
11:116662421 APOA5 G>GA	11	116662421	116662422	G	GA	APOA5	c.50-9dup	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662422dup	(Likely) benign	1 lab	24fe6096d4
5:483386 SLC9A3 G>A	5	483386	483386	G	A	SLC9A3	c.1144C>T	NM_004174.4	NP_004165.2:p.(Arg382Trp)	NC_000005.9:g.483386G>A	(Likely) pathogenic	1 lab	2500eeac23
13:49039120 RB1 C>CTTT	13	49039120	49039122	C	CTTT	RB1	c.2212-13_2212-12insTTT	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039121_49039122insTTT	(Likely) benign	1 lab	2503cc84a8
9:137666319 COL5A1 G>A	9	137666319	137666319	G	A	COL5A1	c.2332-386G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137666319G>A	(Likely) benign	1 lab	2507df9dca
19:11217266 LDLR A>G	19	11217266	11217266	A	G	LDLR	c.720A>G	NM_000527.5	NP_000518.1:p.(Glu240=)	NC_000019.9:g.11217266A>G	(Likely) benign	1 lab	2507e8be46
2:179437020 TTN T>C	2	179437020	179437020	T	C	TTN	c.73839A>G	NM_001267550.2	NP_001254479.2:p.(Ala24613=)	NC_000002.11:g.179437020T>C	(Likely) benign	1 lab	250d5b0a4e
19:11239895 LDLR G>A	19	11239895	11239895	G	A	LDLR	c.2390-294G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239895G>A	(Likely) benign	1 lab	250e0b51d0
X:49076224 CACNA1F T>TTCC	X	49076224	49076245	T	TTCC	CACNA1F	c.2442_2444dup	NM_005183.4	NP_005174.2:p.(Glu825dup)	NC_000023.10:g.49076243_49076245dup	(Likely) benign	1 lab	250fa59d73
11:9917483 SBF2 A>G	11	9917483	9917483	A	G	SBF2	c.1929+7T>C	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9917483A>G	(Likely) benign	1 lab	25122fb07c
10:112583312 RBM20 C>T	10	112583312	112583312	C	T	RBM20	c.3391C>T	NM_001134363.3	NP_001127835.2:p.(Pro1131Ser)	NC_000010.10:g.112583312C>T	VUS	1 lab	2512794d69
19:11213360 LDLR G>A	19	11213360	11213360	G	A	LDLR	c.211G>A	NM_000527.5	NP_000518.1:p.(Gly71Arg)	NC_000019.9:g.11213360G>A	VUS	1 lab	2513a0b8b4
17:68171428 KCNJ2 G>T	17	68171428	68171428	G	T	KCNJ2	c.248G>T	NM_000891.3	NP_000882.1:p.(Trp83Leu)	NC_000017.10:g.68171428G>T	VUS	1 lab	2516229dd0
2:219677769 CYP27A1 C>T	2	219677769	219677769	C	T	CYP27A1	c.967C>T	NM_000784.4	NP_000775.1:p.(Arg323Trp)	NC_000002.11:g.219677769C>T	VUS	1 lab	25175d5d00
16:29675029 MISSING Ref too long to show for this DEL>C	16	29675029	30199917	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29675030_30199917del	(Likely) pathogenic	1 lab	2519bc0ae3
12:21377701 SLCO1B1 C>T	12	21377701	21377701	C	T	SLCO1B1	c.1793C>T	NM_006446.5	NP_006437.3:p.(Thr598Met)	NC_000012.11:g.21377701C>T	(Likely) benign	1 lab	2519e3961d
16:28819028 MISSING Ref too long to show for this DEL>A	16	28819028	29051191	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.28819029_29051191del	(Likely) pathogenic	1 lab	251a33c8d7
9:133756050 ABL1 C>T	9	133756050	133756050	C	T	ABL1	c.1677C>T	NM_005157.6	NP_005148.2:p.(Ser559=)	NC_000009.11:g.133756050C>T	(Likely) benign	1 lab	251b5128e9
11:47358058 MYBPC3 A>C	11	47358058	47358058	A	C	MYBPC3	c.2603-496T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358058A>C	(Likely) benign	1 lab	251bd56a14
1:55525399 PCSK9 C>T	1	55525399	55525399	C	T	PCSK9	c.1681+63C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525399C>T	(Likely) benign	1 lab	251bd98283
19:45412402 APOE C>T	19	45412402	45412402	C	T	APOE	c.927C>T	NM_001302688.2	NP_001289617.1:p.(Phe309=)	NC_000019.9:g.45412402C>T	(Likely) benign	1 lab	251e67bbb0
8:10467078 RP1L1 C>T	8	10467078	10467078	C	T	RP1L1	c.4530G>A	NM_178857.6	NP_849188.4:p.(Ala1510=)	NC_000008.10:g.10467078C>T	(Likely) benign	1 lab	251f709807
7:64595104 MISSING Ref too long to show for this DEL>C	7	64595104	65173707	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.64595106_65173707del	(Likely) benign	1 lab	25211e3187
20:61471925 COL9A3 C>T	20	61471925	61471925	C	T	COL9A3	c.1896C>T	NM_001853.4	NP_001844.3:p.(Asp632=)	NC_000020.10:g.61471925C>T	(Likely) benign	1 lab	25229f9f93
16:920159 LMF1 C>T	16	920159	920159	C	T	LMF1	c.834-93G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920159C>T	(Likely) benign	1 lab	252577aeb0
17:40555828 MISSING Ref too long to show for this DEL>T	17	40555828	40585878	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.40555830_40585878del	VUS	1 lab	252599522c
1:185833699 HMCN1 G>A	1	185833699	185833699	G	A	HMCN1	c.437G>A	NM_031935.3	NP_114141.2:p.(Arg146Gln)	NC_000001.10:g.185833699G>A	(Likely) benign	1 lab	2527216432
22:38369824 SOX10 GTC>G	22	38369824	38369829	GTC	G	SOX10	c.1077_1078del	NM_006941.4	NP_008872.1:p.(Glu359AspfsTer42)	NC_000022.10:g.38369828_38369829del	(Likely) pathogenic	1 lab	25275be2de
7:30668237 GARS1 G>A	7	30668237	30668237	G	A	GARS1	c.1599G>A	NM_001316772.1	NP_001303701.1:p.(Thr533=)	NC_000007.13:g.30668237G>A	(Likely) benign	1 lab	25287cea8c
1:11740535 MAD2L2 G>T	1	11740535	11740535	G	T	MAD2L2	c.41-7C>A	NM_001127325.2	NP_001120797.1:p.?	NC_000001.10:g.11740535G>T	(Likely) benign	1 lab	25292d0218
9:117168984 WHRN C>T	9	117168984	117168984	C	T	WHRN	c.1887G>A	NM_015404.4	NP_056219.3:p.(Pro629=)	NC_000009.11:g.117168984C>T	(Likely) benign	1 lab	252a65ff61
9:137534098 COL5A1 C>CGCT	9	137534098	137534117	C	CGCT	COL5A1	c.82_84dup	NM_000093.5	NP_000084.3:p.(Leu28dup)	NC_000009.11:g.137534115_137534117dup	(Likely) benign	1 lab	252f8541be
1:74715182 TNNI3K C>T	1	74715182	74715182	C	T	TNNI3K	c.189C>T	NM_015978.3	NP_057062.1:p.(Arg63=)	NC_000001.10:g.74715182C>T	(Likely) benign	1 lab	2531655845
6:7575608 DSP C>G	6	7575608	7575608	C	G	DSP	c.2517C>G	NM_004415.4	NP_004406.2:p.(His839Gln)	NC_000006.11:g.7575608C>G	VUS	1 lab	2533193da6
19:11170577 SMARCA4 G>T	19	11170577	11170577	G	T	SMARCA4	c.4768+16G>T	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11170577G>T	(Likely) benign	1 lab	253ccd03c2
5:54529129 CCNO AG>A	5	54529129	54529133	AG	A	CCNO	c.222del	NM_021147.5	NP_066970.3:p.(Ser75LeufsTer19)	NC_000005.9:g.54529133del	(Likely) pathogenic	1 lab	253d265bc6
6:32489933 HLA-DRB5 T>G	6	32489933	32489933	T	G	HLA-DRB5	c.119A>C	NM_002125.4	NP_002116.2:p.(Asp40Ala)	NC_000006.11:g.32489933T>G	(Likely) benign	1 lab	253f3fd343
19:5700829 LONP1 C>T	19	5700829	5700829	C	T	LONP1	c.1477G>A	NM_004793.4	NP_004784.2:p.(Gly493Ser)	NC_000019.9:g.5700829C>T	VUS	1 lab	25437f6df9
7:129999483 CPA5 C>T	7	129999483	129999483	C	T	CPA5	c.387C>T	NM_001127441.2	NP_001120913.1:p.(Arg129=)	NC_000007.13:g.129999483C>T	(Likely) benign	1 lab	2543d8fc40
6:7586037 DSP GGAAGCTTT>G	6	7586037	7586047	GGAAGCTTT	G	DSP	c.8545_8552del	NM_004415.4	NP_004406.2:p.(Ser2849ArgfsTer14)	NC_000006.11:g.7586040_7586047del	VUS	1 lab	2544bbb02c
14:88899462 SPATA7 T>C	14	88899462	88899462	T	C	SPATA7	c.1083-17T>C	NM_018418.5	NP_060888.2:p.?	NC_000014.8:g.88899462T>C	(Likely) benign	1 lab	2545369536
14:21860794 CHD8 TG>T	14	21860794	21860798	TG	T	CHD8	c.6642del	NM_001170629.2	NP_001164100.1:p.(Thr2215HisfsTer47)	NC_000014.8:g.21860798del	(Likely) pathogenic	1 lab	254675911c
4:126373653 FAT4 A>G	4	126373653	126373653	A	G	FAT4	c.11488A>G	NM_001291303.3	NP_001278232.1:p.(Lys3830Glu)	NC_000004.11:g.126373653A>G	(Likely) benign	1 lab	25475e2958
2:189866626 COL3A1 C>T	2	189866626	189866626	C	T	COL3A1	c.2391+311C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866626C>T	(Likely) benign	1 lab	254d60ba91
14:74983051 LTBP2 A>ATTCTGGAATCCCTCCCTCCCTCCC	14	74983051	74983053	A	ATTCTGGAATCCCTCCCTCCCTCCC	LTBP2	c.2908+473_2908+474insGGGAGGGAGGGAGGGATTCCAGAA	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74983052_74983053insTCTGGAATCCCTCCCTCCCTCCCT	(Likely) benign	1 lab	254d671234
12:125296457 SCARB1 T>C	12	125296457	125296457	T	C	SCARB1	c.685A>G	NM_005505.5	NP_005496.4:p.(Ser229Gly)	NC_000012.11:g.125296457T>C	VUS	1 lab	254db914c2
11:47354954 MYBPC3 A>G	11	47354954	47354954	A	G	MYBPC3	c.3191-70T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354954A>G	(Likely) benign	1 lab	254de08c2f
12:53343303 KRT18 T>C	12	53343303	53343303	T	C	KRT18	c.346T>C	NM_000224.3	NP_000215.1:p.(Leu116=)	NC_000012.11:g.53343303T>C	(Likely) benign	1 lab	254dedb74a
18:60973232 MISSING C>Alt too long to show for this DUP	18	60973232	61171118	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.60973233_61171118dup	VUS	1 lab	25510e8550
16:919984 LMF1 A>C	16	919984	919984	A	C	LMF1	c.916T>G	NM_001352018.2	NP_001338947.1:p.(Tyr306Asp)	NC_000016.9:g.919984A>C	(Likely) pathogenic	1 lab	25574d26b5
1:241458814 MISSING A>Alt too long to show for this DUP	1	241458814	241893925	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.241458815_241893925dup	VUS	1 lab	2559377ea7
9:2717883 KCNV2 G>A	9	2717883	2717883	G	A	KCNV2	c.144G>A	NM_133497.4	NP_598004.1:p.(Glu48=)	NC_000009.11:g.2717883G>A	(Likely) benign	1 lab	25599ede78
12:133236030 POLE C>T	12	133236030	133236030	C	T	POLE	c.3126G>A	NM_006231.4	NP_006222.2:p.(Lys1042=)	NC_000012.11:g.133236030C>T	(Likely) benign	1 lab	255c934283
1:218520509 TGFB2 C>A	1	218520509	218520509	C	A	TGFB2	c.346+120C>A	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218520509C>A	(Likely) benign	1 lab	255dd3ff9e
5:156514189 HAVCR2 G>A	5	156514189	156514189	G	A	HAVCR2	c.830C>T	NM_032782.5	NP_116171.3:p.(Pro277Leu)	NC_000005.9:g.156514189G>A	(Likely) benign	1 lab	2560b05bab
X:70444087 GJB1 T>A	X	70444087	70444087	T	A	GJB1	c.530T>A	NM_000166.6	NP_000157.1:p.(Val177Glu)	NC_000023.10:g.70444087T>A	(Likely) pathogenic	1 lab	2561c39adc
4:123857312 AFG2A G>C	4	123857312	123857312	G	C	AFG2A	c.1334+1G>C	NM_145207.3	NP_660208.2:p.?	NC_000004.11:g.123857312G>C	(Likely) pathogenic	1 lab	2562a092b1
6:75804714 COL12A1 T>G	6	75804714	75804714	T	G	COL12A1	c.8649+110A>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75804714T>G	(Likely) benign	1 lab	2563b1c6a2
3:184044303 EIF4G1 TTTC>T	3	184044303	184044312	TTTC	T	EIF4G1	c.3226-5_3226-3del	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184044310_184044312del	(Likely) benign	1 lab	2563f849fe
7:107555937 DLD T>A	7	107555937	107555937	T	A	DLD	c.685-14T>A	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107555937T>A	(Likely) benign	1 lab	2564a9578f
16:14820034 NPIPA3 C>T	16	14820034	14820034	C	T	NPIPA3	c.937C>T	NM_001277323.1	NP_001264252.1:p.(Leu313Phe)	NC_000016.9:g.14820034C>T	(Likely) benign	1 lab	256c3bae70
9:34514450 DNAI1 T>C	9	34514450	34514450	T	C	DNAI1	c.1640T>C	NM_001281428.2	NP_001268357.1:p.(Val547Ala)	NC_000009.11:g.34514450T>C	VUS	1 lab	256cf104ac
18:47095828 LIPG G>A	18	47095828	47095828	G	A	LIPG	c.481G>A	NM_006033.4	NP_006024.1:p.(Gly161Arg)	NC_000018.9:g.47095828G>A	VUS	1 lab	256d78b0bd
2:179642718 TTN A>G	2	179642718	179642718	A	G	TTN	c.4209-16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179642718A>G	(Likely) benign	1 lab	2571707933
8:59405001 CYP7A1 C>T	8	59405001	59405001	C	T	CYP7A1	c.1126G>A	NM_000780.4	NP_000771.2:p.(Asp376Asn)	NC_000008.10:g.59405001C>T	VUS	1 lab	25718e9c24
8:42320618 SLC20A2 TA>T	8	42320618	42320628	TA	T	SLC20A2	c.431-11del	NM_001257180.2	NP_001244109.1:p.?	NC_000008.10:g.42320628del	(Likely) benign	1 lab	2572aaa657
12:124352505 DNAH10 T>A	12	124352505	124352505	T	A	DNAH10	c.7004T>A	NM_207437.3	NP_997320.2:p.(Leu2335His)	NC_000012.11:g.124352505T>A	(Likely) benign	1 lab	25732f94af
5:90059109 ADGRV1 T>C	5	90059109	90059109	T	C	ADGRV1	c.12121-13T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059109T>C	(Likely) benign	1 lab	257645bc5c
7:107188580 MISSING Ref too long to show for this DEL>C	7	107188580	107286241	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.107188581_107286241del	VUS	1 lab	25767c6f18
9:107572119 ABCA1 T>G	9	107572119	107572119	T	G	ABCA1	c.4176-274A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107572119T>G	(Likely) benign	1 lab	2579860197
17:39976721 FKBP10 CG>C	17	39976721	39976730	CG	C	FKBP10	c.1256+17del	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976730del	(Likely) benign	1 lab	257fc88d01
17:39976729 FKBP10 G>T	17	39976729	39976729	G	T	FKBP10	c.1256+16G>T	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976729G>T	(Likely) benign	1 lab	2585fe7424
8:42295032 SLC20A2 A>C	8	42295032	42295032	A	C	SLC20A2	c.998T>G	NM_001257180.2	NP_001244109.1:p.(Phe333Cys)	NC_000008.10:g.42295032A>C	VUS	1 lab	2587e678ad
2:44079720 ABCG8 CCT>C	2	44079720	44079726	CCT	C	ABCG8	c.695-13_695-12del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079725_44079726del	(Likely) benign	1 lab	2587ed3f3b
1:8993866 MISSING Ref too long to show for this DEL>A	1	8993866	9027846	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.8993868_9027846del	VUS	1 lab	25896f2ac4
16:1004670 LMF1 G>C	16	1004670	1004670	G	C	LMF1	c.194-4C>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004670G>C	(Likely) benign	1 lab	258c23be7f
2:73680013 ALMS1 A>G	2	73680013	73680013	A	G	ALMS1	c.6362A>G	NM_015120.4	NP_055935.4:p.(Lys2121Arg)	NC_000002.11:g.73680013A>G	VUS	1 lab	258cd735b4
2:47388932 CALM2 T>C	2	47388932	47388932	T	C	CALM2	c.243A>G	NM_001305626.1	NP_001292555.1:p.(Leu81=)	NC_000002.11:g.47388932T>C	(Likely) benign	1 lab	258f9aa83d
X:54011404 PHF8 TCTC>T	X	54011404	54011419	TCTC	T	PHF8	c.2383_2385del	NM_015107.3	NP_055922.1:p.(Glu795del)	NC_000023.10:g.54011417_54011419del	(Likely) benign	1 lab	2593cbc3bf
15:28090180 OCA2 C>A	15	28090180	28090180	C	A	OCA2	c.2357G>T	NM_000275.3	NP_000266.2:p.(Gly786Val)	NC_000015.9:g.28090180C>A	VUS	1 lab	25990a0390
3:65314407 MISSING T>Alt too long to show for this DUP	3	65314407	66122445	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.65314408_66122445dup	VUS	1 lab	25995970f4
10:121436070 BAG3 G>GA	10	121436070	121436071	G	GA	BAG3	c.1005dup	NM_004281.4	NP_004272.2:p.(His336ThrfsTer14)	NC_000010.10:g.121436071dup	(Likely) pathogenic	1 lab	2599663690
11:2466993 KCNQ1 G>C	11	2466993	2466993	G	C	KCNQ1	c.386+279G>C	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2466993G>C	(Likely) benign	1 lab	259aa33591
18:58039559 MC4R C>T	18	58039559	58039559	C	T	MC4R	c.24G>A	NM_005912.3	NP_005903.2:p.(Gly8=)	NC_000018.9:g.58039559C>T	(Likely) benign	1 lab	259e17d523
16:57003612 CETP C>T	16	57003612	57003612	C	T	CETP	c.439+19C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003612C>T	(Likely) benign	1 lab	259f906503
10:121436130 BAG3 C>T	10	121436130	121436130	C	T	BAG3	c.1064C>T	NM_004281.4	NP_004272.2:p.(Pro355Leu)	NC_000010.10:g.121436130C>T	VUS	1 lab	25a1316525
X:29935623 IL1RAPL1 G>A	X	29935623	29935623	G	A	IL1RAPL1	c.821G>A	NM_014271.4	NP_055086.1:p.(Ser274Asn)	NC_000023.10:g.29935623G>A	VUS	1 lab	25a380213f
2:105990000 FHL2 A>G	2	105990000	105990000	A	G	FHL2	c.331+16T>C	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105990000A>G	(Likely) benign	1 lab	25a63befb3
2:44079778 ABCG8 C>T	2	44079778	44079778	C	T	ABCG8	c.735C>T	NM_022437.3	NP_071882.1:p.(Ser245=)	NC_000002.11:g.44079778C>T	(Likely) benign	1 lab	25a9741fb7
2:187416597 MISSING G>Alt too long to show for this DUP	2	187416597	187717332	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.187416598_187717332dup	VUS	1 lab	25ad1248ad
1:205313850 MISSING T>Alt too long to show for this DUP	1	205313850	205350838	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.205313852_205350838dup	VUS	1 lab	25b07f3e0e
3:4712531 ITPR1 C>T	3	4712531	4712531	C	T	ITPR1	c.2080C>T	NM_001168272.2	NP_001161744.1:p.(Arg694Cys)	NC_000003.11:g.4712531C>T	VUS	1 lab	25b27ead64
2:96940897 SNRNP200 GA>G	2	96940897	96940900	GA	G	SNRNP200	c.6268-5del	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96940900del	(Likely) benign	1 lab	25b2df5569
14:102505895 DYNC1H1 T>C	14	102505895	102505895	T	C	DYNC1H1	c.11595+12T>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102505895T>C	(Likely) benign	1 lab	25b62c0eb1
16:81399094 GAN A>G	16	81399094	81399094	A	G	GAN	c.1502+11A>G	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81399094A>G	(Likely) benign	1 lab	25ba547358
10:68040276 CTNNA3 C>A	10	68040276	68040276	C	A	CTNNA3	c.1836G>T	NM_013266.4	NP_037398.2:p.(Lys612Asn)	NC_000010.10:g.68040276C>A	VUS	1 lab	25bbac8f38
15:41277615 INO80 C>T	15	41277615	41277615	C	T	INO80	c.3842G>A	NM_017553.3	NP_060023.1:p.(Arg1281Gln)	NC_000015.9:g.41277615C>T	VUS	1 lab	25bf532cb9
4:55991461 KDR C>A	4	55991461	55991461	C	A	KDR	c.-1G>T	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55991461C>A	(Likely) benign	1 lab	25c03c96ad
14:23866178 MYH6 C>T	14	23866178	23866178	C	T	MYH6	c.2162G>A	NM_002471.4	NP_002462.2:p.(Arg721Gln)	NC_000014.8:g.23866178C>T	VUS	1 lab	25c4998116
1:55523891 PCSK9 G>T	1	55523891	55523891	G	T	PCSK9	c.1354+9G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523891G>T	(Likely) benign	1 lab	25c9e34e16
12:106826197 POLR3B T>C	12	106826197	106826197	T	C	POLR3B	c.1566T>C	NM_018082.6	NP_060552.4:p.(Asp522=)	NC_000012.11:g.106826197T>C	(Likely) benign	1 lab	25cbfbc615
2:179464172 TTN C>T	2	179464172	179464172	C	T	TTN	c.56348G>A	NM_001267550.2	NP_001254479.2:p.(Gly18783Asp)	NC_000002.11:g.179464172C>T	VUS	1 lab	25ceef217f
15:45446156 DUOX1 C>T	15	45446156	45446156	C	T	DUOX1	c.3532C>T	NM_017434.5	NP_059130.2:p.(Leu1178Phe)	NC_000015.9:g.45446156C>T	(Likely) benign	1 lab	25d215905b
12:936192 WNK1 A>T	12	936192	936192	A	T	WNK1	c.933-16A>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.936192A>T	(Likely) benign	1 lab	25d4e80e24
2:21229083 APOB C>T	2	21229083	21229083	C	T	APOB	c.10657G>A	NM_000384.3	NP_000375.3:p.(Glu3553Lys)	NC_000002.11:g.21229083C>T	VUS	1 lab	25d615db7a
11:65308542 LTBP3 T>C	11	65308542	65308542	T	C	LTBP3	c.2893+55A>G	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308542T>C	(Likely) benign	1 lab	25d78ab25a
19:11226829 LDLR G>T	19	11226829	11226829	G	T	LDLR	c.1646G>T	NM_000527.5	NP_000518.1:p.(Gly549Val)	NC_000019.9:g.11226829G>T	(Likely) pathogenic	1 lab	25d8d0d491
14:103431071 CDC42BPB Ref too long to show for this DEL>T	14	103431071	103433575	Ref too long to show for this DEL	T	CDC42BPB	c.2347-68_2578-85del	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103431072_103433575del	VUS	1 lab	25daf5cac6
22:40611626 TNRC6B C>Alt too long to show for this DUP	22	40611626	40643466	C	Alt too long to show for this DUP	TNRC6B	c.6-30392_93+1360dup	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40611627_40643466dup	VUS	1 lab	25dc3297e2
1:66102158 LEPR C>T	1	66102158	66102158	C	T	LEPR	c.2958C>T	NM_002303.6	NP_002294.2:p.(Tyr986=)	NC_000001.10:g.66102158C>T	(Likely) benign	1 lab	25dfc08f5a
6:64430699 EYS A>G	6	64430699	64430699	A	G	EYS	c.9291T>C	NM_001292009.2	NP_001278938.1:p.(Phe3097=)	NC_000006.11:g.64430699A>G	(Likely) benign	1 lab	25e16ff2bc
2:179585947 TTN A>T	2	179585947	179585947	A	T	TTN	c.22817-18T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585947A>T	(Likely) benign	1 lab	25e1faadb9
17:19702892 ULK2 C>CAAA	17	19702892	19702910	C	CAAA	ULK2	c.1442-7_1442-5dup	NM_014683.4	NP_055498.3:p.?	NC_000017.10:g.19702908_19702910dup	(Likely) benign	1 lab	25ec0e86b8
4:187130042 CYP4V2 G>A	4	187130042	187130042	G	A	CYP4V2	c.1114G>A	NM_207352.4	NP_997235.3:p.(Val372Ile)	NC_000004.11:g.187130042G>A	(Likely) benign	1 lab	25edf7ab0a
7:100639355 MUC12 C>T	7	100639355	100639355	C	T	MUC12	c.5511C>T	NM_001164462.1	NP_001157934.1:p.(Phe1837=)	NC_000007.13:g.100639355C>T	(Likely) benign	1 lab	25ee67b8d4
12:125296511 SCARB1 G>A	12	125296511	125296511	G	A	SCARB1	c.631C>T	NM_005505.5	NP_005496.4:p.(Leu211Phe)	NC_000012.11:g.125296511G>A	(Likely) benign	1 lab	25eece8b46
11:70331584 SHANK2 C>T	11	70331584	70331584	C	T	SHANK2	c.4814G>A	NM_012309.5	NP_036441.2:p.(Trp1605Ter)	NC_000011.9:g.70331584C>T	(Likely) pathogenic	1 lab	25ef3980d8
11:46726364 ZNF408 G>A	11	46726364	46726364	G	A	ZNF408	c.1114G>A	NM_024741.3	NP_079017.1:p.(Ala372Thr)	NC_000011.9:g.46726364G>A	VUS	1 lab	25f02ce74a
9:107571845 ABCA1 G>A	9	107571845	107571845	G	A	ABCA1	c.4176C>T	NM_005502.4	NP_005493.2:p.(Ser1392=)	NC_000009.11:g.107571845G>A	VUS	1 lab	25f0c89474
9:32544333 TOPORS G>A	9	32544333	32544333	G	A	TOPORS	c.199-9C>T	NM_005802.5	NP_005793.2:p.?	NC_000009.11:g.32544333G>A	(Likely) benign	1 lab	25f1a5b152
1:243273557 MISSING Ref too long to show for this DEL>T	1	243273557	243360374	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.243273559_243360374del	VUS	1 lab	25f3997ade
X:49075326 CACNA1F G>A	X	49075326	49075326	G	A	CACNA1F	c.2766+15C>T	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49075326G>A	(Likely) benign	1 lab	25f5f2107c
17:48273219 COL1A1 G>A	17	48273219	48273219	G	A	COL1A1	c.1056+65C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273219G>A	(Likely) benign	1 lab	25f81290fc
2:179659947 TTN G>T	2	179659947	179659947	G	T	TTN	c.947C>A	NM_001267550.2	NP_001254479.2:p.(Ser316Tyr)	NC_000002.11:g.179659947G>T	VUS	1 lab	25f8b48b51
3:38651556 SCN5A G>A	3	38651556	38651556	G	A	SCN5A	c.704-101C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38651556G>A	(Likely) benign	1 lab	25fa008279
18:21124972 NPC1 T>C	18	21124972	21124972	T	C	NPC1	c.1899A>G	NM_000271.5	NP_000262.2:p.(Leu633=)	NC_000018.9:g.21124972T>C	(Likely) benign	1 lab	25fa3b39b0
20:5086939 TMEM230 A>T	20	5086939	5086939	A	T	TMEM230	c.117T>A	NM_001009924.2	NP_001009924.1:p.(Pro39=)	NC_000020.10:g.5086939A>T	(Likely) benign	1 lab	25faaf21fd
16:4183381 MISSING Ref too long to show for this DEL>T	16	4183381	4252501	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.4183384_4252501del	VUS	1 lab	25fac1a331
9:91965529 SECISBP2 G>A	9	91965529	91965529	G	A	SECISBP2	c.1689-18G>A	NM_001282690.1	NP_001269619.1:p.?	NC_000009.11:g.91965529G>A	(Likely) benign	1 lab	25febe5414
2:44079572 ABCG8 C>T	2	44079572	44079572	C	T	ABCG8	c.641C>T	NM_022437.3	NP_071882.1:p.(Ser214Leu)	NC_000002.11:g.44079572C>T	VUS	1 lab	26002db42e
X:153296127 MECP2 TGGGAGCAGTGGCAC>T	X	153296127	153296144	TGGGAGCAGTGGCAC	T	MECP2	c.1138_1151del	NM_004992.4	NP_004983.1:p.(Val380ThrfsTer8)	NC_000023.10:g.153296131_153296144del	(Likely) pathogenic	1 lab	2601f5b684
4:190883026 FRG1 G>T	4	190883026	190883026	G	T	FRG1	c.679G>T	NM_004477.3	NP_004468.1:p.(Asp227Tyr)	NC_000004.11:g.190883026G>T	(Likely) benign	1 lab	26020d4d8d
11:22143527 MISSING T>Alt too long to show for this DUP	11	22143527	22448993	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.22143528_22448993dup	VUS	1 lab	260715187b
2:241664801 KIF1A C>T	2	241664801	241664801	C	T	KIF1A	c.4143G>A	NM_001244008.2	NP_001230937.1:p.(Pro1381=)	NC_000002.11:g.241664801C>T	(Likely) benign	1 lab	2607d5defc
8:19810815 LPL C>T	8	19810815	19810815	C	T	LPL	c.430-6C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810815C>T	(Likely) benign	1 lab	260cacd922
1:66064334 LEPR AT>A	1	66064334	66064337	AT	A	LEPR	c.850-6del	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66064337del	(Likely) benign	1 lab	2610883522
6:32012536 TNXB A>AC	6	32012536	32012537	A	AC	TNXB	c.10922-44dup	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012537dup	(Likely) benign	1 lab	2612b822a2
8:59407167 CYP7A1 C>T	8	59407167	59407167	C	T	CYP7A1	c.937G>A	NM_000780.4	NP_000771.2:p.(Glu313Lys)	NC_000008.10:g.59407167C>T	VUS	1 lab	261622ccb9
14:21868758 CHD8 G>A	14	21868758	21868758	G	A	CHD8	c.4384C>T	NM_001170629.2	NP_001164100.1:p.(Arg1462Ter)	NC_000014.8:g.21868758G>A	(Likely) pathogenic	1 lab	261d677e22
8:55534144 RP1 G>A	8	55534144	55534144	G	A	RP1	c.615+3G>A	NM_006269.2	NP_006260.1:p.?	NC_000008.10:g.55534144G>A	(Likely) benign	1 lab	261f3d1183
1:66038054 LEPR T>G	1	66038054	66038054	T	G	LEPR	c.416T>G	NM_001003679.3	NP_001003679.1:p.(Leu139Ter)	NC_000001.10:g.66038054T>G	(Likely) pathogenic	1 lab	261fae2d4e
11:116703575 APOC3 G>C	11	116703575	116703575	G	C	APOC3	c.275G>C	NM_000040.3	NP_000031.1:p.(Arg92Thr)	NC_000011.9:g.116703575G>C	(Likely) benign	1 lab	262479689d
2:44059206 ABCG5 C>T	2	44059206	44059206	C	T	ABCG5	c.282G>A	NM_022436.3	NP_071881.1:p.(Thr94=)	NC_000002.11:g.44059206C>T	(Likely) benign	1 lab	2625493c7f
19:50906379 POLD1 C>T	19	50906379	50906379	C	T	POLD1	c.1040C>T	NM_001256849.1	NP_001243778.1:p.(Pro347Leu)	NC_000019.9:g.50906379C>T	(Likely) benign	1 lab	262756fff0
9:107647077 ABCA1 G>C	9	107647077	107647077	G	C	ABCA1	c.161-228C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647077G>C	(Likely) benign	1 lab	262a708488
9:137620507 COL5A1 C>T	9	137620507	137620507	C	T	COL5A1	c.787-9C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620507C>T	(Likely) benign	1 lab	262a93756e
12:12871139 CDKN1B G>C	12	12871139	12871139	G	C	CDKN1B	c.366G>C	NM_004064.5	NP_004055.1:p.(Pro122=)	NC_000012.11:g.12871139G>C	(Likely) benign	1 lab	262c8e820c
7:150883966 ASB10 A>G	7	150883966	150883966	A	G	ASB10	c.252T>C	NM_001142459.2	NP_001135931.2:p.(Asp84=)	NC_000007.13:g.150883966A>G	(Likely) benign	1 lab	262c9cfce9
6:32017243 TNXB G>A	6	32017243	32017243	G	A	TNXB	c.9555C>T	NM_019105.8	NP_061978.6:p.(Thr3185=)	NC_000006.11:g.32017243G>A	(Likely) benign	1 lab	262d24b415
14:76437706 TGFB3 G>C	14	76437706	76437706	G	C	TGFB3	c.517-108C>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76437706G>C	(Likely) benign	1 lab	263268b9ad
3:64184482 PRICKLE2 G>A	3	64184482	64184482	G	A	PRICKLE2	c.122C>T	NM_198859.4	NP_942559.1:p.(Pro41Leu)	NC_000003.11:g.64184482G>A	VUS	1 lab	263fcc6328
18:25570228 CDH2 G>C	18	25570228	25570228	G	C	CDH2	c.1431C>G	NM_001792.5	NP_001783.2:p.(Pro477=)	NC_000018.9:g.25570228G>C	(Likely) benign	1 lab	26439702c5
9:107651030 ABCA1 G>T	9	107651030	107651030	G	T	ABCA1	c.160+353C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651030G>T	(Likely) benign	1 lab	264475f046
2:170002322 LRP2 G>A	2	170002322	170002322	G	A	LRP2	c.12923C>T	NM_004525.3	NP_004516.2:p.(Thr4308Met)	NC_000002.11:g.170002322G>A	VUS	1 lab	2644b983a5
2:179501480 TTN C>T	2	179501480	179501480	C	T	TTN	c.40974G>A	NM_001267550.2	NP_001254479.2:p.(Lys13658=)	NC_000002.11:g.179501480C>T	(Likely) benign	1 lab	2645413f1c
10:75802830 VCL T>C	10	75802830	75802830	T	C	VCL	c.169-11T>C	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75802830T>C	(Likely) benign	1 lab	2649685661
5:176684108 NSD1 TA>T	5	176684108	176684110	TA	T	NSD1	c.4924del	NM_022455.5	NP_071900.2:p.(Thr1642ProfsTer17)	NC_000005.9:g.176684110del	(Likely) pathogenic	1 lab	264c503b9e
16:88502575 ZNF469 T>C	16	88502575	88502575	T	C	ZNF469	c.8697T>C	NM_001367624.2	NP_001354553.1:p.(Gly2899=)	NC_000016.9:g.88502575T>C	(Likely) benign	1 lab	264f6261a8
16:81391459 GAN A>C	16	81391459	81391459	A	C	GAN	c.896A>C	NM_022041.4	NP_071324.1:p.(Tyr299Ser)	NC_000016.9:g.81391459A>C	(Likely) pathogenic	1 lab	264f62bfda
12:33030773 PKP2 G>T	12	33030773	33030773	G	T	PKP2	c.1034+7C>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33030773G>T	(Likely) benign	1 lab	2652b80c3c
21:22751213 MISSING A>Alt too long to show for this DUP	21	22751213	23009519	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.22751214_23009519dup	VUS	1 lab	26538fc324
2:179615470 TTN A>G	2	179615470	179615470	A	G	TTN	c.11657T>C	NM_133379.5	NP_596870.2:p.(Leu3886Pro)	NC_000002.11:g.179615470A>G	VUS	1 lab	265566439b
3:119378977 POPDC2 G>A	3	119378977	119378977	G	A	POPDC2	c.294C>T	NM_001369919.2	NP_001356848.1:p.(Arg98=)	NC_000003.11:g.119378977G>A	(Likely) benign	1 lab	26572059d9
1:245957747 SMYD3 A>Alt too long to show for this DUP	1	245957747	246064756	A	Alt too long to show for this DUP	SMYD3	c.813+14076_1077-30297dup	NM_001167740.2	NP_001161212.1:p.?	NC_000001.10:g.245957748_246064756dup	VUS	1 lab	265dba24e9
17:48277310 COL1A1 T>C	17	48277310	48277310	T	C	COL1A1	c.104-2A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48277310T>C	(Likely) pathogenic	1 lab	265f8225a7
7:100421317 EPHB4 C>T	7	100421317	100421317	C	T	EPHB4	c.360G>A	NM_004444.5	NP_004435.3:p.(Ala120=)	NC_000007.13:g.100421317C>T	(Likely) benign	1 lab	26608385a5
5:178581224 ADAMTS2 C>T	5	178581224	178581224	C	T	ADAMTS2	c.1239-31G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178581224C>T	(Likely) benign	1 lab	266290dbef
18:28648111 DSC2 T>C	18	28648111	28648111	T	C	DSC2	c.2576A>G	NM_024422.6	NP_077740.1:p.(Tyr859Cys)	NC_000018.9:g.28648111T>C	VUS	1 lab	26631a48c6
8:19809294 LPL T>A	8	19809294	19809294	T	A	LPL	c.264T>A	NM_000237.3	NP_000228.1:p.(Tyr88Ter)	NC_000008.10:g.19809294T>A	(Likely) pathogenic	1 lab	26652e94df
19:11216320 LDLR T>C	19	11216320	11216320	T	C	LDLR	c.694+44T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216320T>C	(Likely) benign	1 lab	266792c324
11:68216313 LRP5 G>A	11	68216313	68216313	G	A	LRP5	c.2880G>A	NM_001291902.2	NP_001278831.1:p.(Thr960=)	NC_000011.9:g.68216313G>A	(Likely) benign	1 lab	2669a91ce1
7:128483405 FLNC C>T	7	128483405	128483405	C	T	FLNC	c.2641+32C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483405C>T	(Likely) benign	1 lab	266aff655d
10:18828223 CACNB2 A>C	10	18828223	18828223	A	C	CACNB2	c.1469A>C	NM_201571.4	NP_963865.2:p.(Glu490Ala)	NC_000010.10:g.18828223A>C	(Likely) benign	1 lab	266fbebb95
9:107598740 ABCA1 C>T	9	107598740	107598740	C	T	ABCA1	c.1311+521G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107598740C>T	(Likely) benign	1 lab	2671d5ee9c
22:23654162 MISSING Ref too long to show for this DEL>A	22	23654162	23725490	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.23654163_23725490del	VUS	1 lab	2673e7e01c
2:21245683 APOB G>C	2	21245683	21245683	G	C	APOB	c.2816+20C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21245683G>C	(Likely) benign	1 lab	2678478ef1
2:1664663 PXDN G>A	2	1664663	1664663	G	A	PXDN	c.1827C>T	NM_012293.3	NP_036425.1:p.(Leu609=)	NC_000002.11:g.1664663G>A	(Likely) benign	1 lab	2679ac8a9e
9:95482696 BICD2 CTTG>C	9	95482696	95482703	CTTG	C	BICD2	c.945_947del	NM_001003800.2	NP_001003800.1:p.(Asn315del)	NC_000009.11:g.95482701_95482703del	VUS	1 lab	267b970d4a
X:71791922 HDAC8 A>G	X	71791922	71791922	A	G	HDAC8	c.149T>C	NM_001166419.2	NP_001159891.1:p.(Leu50Pro)	NC_000023.10:g.71791922A>G	VUS	1 lab	267cb4fedc
7:55229202 EGFR C>T	7	55229202	55229202	C	T	EGFR	c.1509C>T	NM_005228.5	NP_005219.2:p.(Gly503=)	NC_000007.13:g.55229202C>T	(Likely) benign	1 lab	2697f5bae7
2:21239464 APOB AAGGTCATACTCTGCCGATTATATTTGAATGTCATGGTAGCCTCAGTCTGCTTCGCACCTGGACG>A	2	21239464	21239530	AAGGTCATACTCTGCCGATTATATTTGAATGTCATGGTAGCCTCAGTCTGCTTCGCACCTGGACG	A	APOB	c.3122-7_3178del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239467_21239530del	(Likely) pathogenic	1 lab	267d64e248
7:91624003 AKAP9 A>G	7	91624003	91624003	A	G	AKAP9	c.645A>G	NM_005751.5	NP_005742.4:p.(Gln215=)	NC_000007.13:g.91624003A>G	(Likely) benign	1 lab	267ea2a881
15:48758304 FBN1 C>A	15	48758304	48758304	C	A	FBN1	c.4748-249G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48758304C>A	(Likely) benign	1 lab	2681b1f8a7
Y:5458954 MISSING A>Alt too long to show for this DUP	Y	5458954	5813601	A	Alt too long to show for this DUP	MISSING				NC_000024.9:g.5458957_5813601dup	(Likely) pathogenic	1 lab	26828e0bd2
1:236912368 ACTN2 T>G	1	236912368	236912368	T	G	ACTN2	c.1516-56T>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912368T>G	(Likely) benign	1 lab	2685b5d7cc
2:179447161 TTN CAG>C	2	179447161	179447166	CAG	C	TTN	c.66020_66021del	NM_001267550.2	NP_001254479.2:p.(Ser22007CysfsTer18)	NC_000002.11:g.179447165_179447166del	(Likely) pathogenic	1 lab	2687485c65
1:216172400 USH2A C>T	1	216172400	216172400	C	T	USH2A	c.6486G>A	NM_206933.4	NP_996816.3:p.(Gln2162=)	NC_000001.10:g.216172400C>T	VUS	1 lab	268d7020b1
2:844939 MISSING T>Alt too long to show for this DUP	2	844939	1112974	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.844940_1112974dup	VUS	1 lab	2696fd7347
14:23886163 MYH7 C>T	14	23886163	23886163	C	T	MYH7	c.4558G>A	NM_000257.4	NP_000248.2:p.(Gly1520Arg)	NC_000014.8:g.23886163C>T	VUS	1 lab	269abe639d
11:47364124 MYBPC3 C>T	11	47364124	47364124	C	T	MYBPC3	c.1624+5G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364124C>T	VUS	1 lab	269c3f2e42
6:136594329 BCLAF1 T>TAACA	6	136594329	136594330	T	TAACA	BCLAF1	c.1853-5_1853-4insTGTT	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136594329_136594330insAACA	(Likely) benign	1 lab	26a3323239
6:76751591 IMPG1 G>C	6	76751591	76751591	G	C	IMPG1	c.301+19C>G	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76751591G>C	(Likely) benign	1 lab	26a3b8b6be
8:133388652 KCNQ3 Ref too long to show for this DEL>G	8	133388652	133397536	Ref too long to show for this DEL	G	KCNQ3	c.386+94858_386+103741del	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133388653_133397536del	VUS	1 lab	26a583ccb9
1:214820101 CENPF T>C	1	214820101	214820101	T	C	CENPF	c.7188T>C	NM_016343.4	NP_057427.3:p.(Asn2396=)	NC_000001.10:g.214820101T>C	(Likely) benign	1 lab	26a73068f8
1:19547281 EMC1 G>A	1	19547281	19547281	G	A	EMC1	c.2649C>T	NM_015047.3	NP_055862.1:p.(Pro883=)	NC_000001.10:g.19547281G>A	(Likely) benign	1 lab	26a97c1db0
X:153492783 OPN1MW2 A>G	X	153492783	153492783	A	G	OPN1MW2	c.532A>G	NM_001048181.2	NP_001041646.1:p.(Ile178Val)	NC_000023.10:g.153492783A>G	(Likely) benign	1 lab	26ac33c3cb
11:47359462 MYBPC3 T>A	11	47359462	47359462	T	A	MYBPC3	c.2309-117A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359462T>A	(Likely) benign	1 lab	26b4a318c1
11:46338965 CREB3L1 C>T	11	46338965	46338965	C	T	CREB3L1	c.1185C>T	NM_052854.4	NP_443086.1:p.(Pro395=)	NC_000011.9:g.46338965C>T	(Likely) benign	1 lab	26b4e77e6a
19:11218076 LDLR T>C	19	11218076	11218076	T	C	LDLR	c.826T>C	NM_000527.5	NP_000518.1:p.(Cys276Arg)	NC_000019.9:g.11218076T>C	(Likely) pathogenic	1 lab	26b6e12f81
2:21225851 APOB G>T	2	21225851	21225851	G	T	APOB	c.12443C>A	NM_000384.3	NP_000375.3:p.(Ala4148Asp)	NC_000002.11:g.21225851G>T	VUS	1 lab	26bb2bf9a1
2:71753487 DYSF C>T	2	71753487	71753487	C	T	DYSF	c.1273+11C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71753487C>T	(Likely) benign	1 lab	26bb96b4ee
16:920892 LMF1 G>A	16	920892	920892	G	A	LMF1	c.680-10C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920892G>A	(Likely) benign	1 lab	26bbf2e232
19:19335962 NCAN C>T	19	19335962	19335962	C	T	NCAN	c.955C>T	NM_004386.3	NP_004377.2:p.(Gln319Ter)	NC_000019.9:g.19335962C>T	VUS	1 lab	26bdd83829
10:81072445 ZMIZ1 A>AC	10	81072445	81072452	A	AC	ZMIZ1	c.3150dup	NM_020338.4	NP_065071.1:p.(Asp1051ArgfsTer6)	NC_000010.10:g.81072452dup	(Likely) pathogenic	1 lab	26bfbb4e81
X:56590492 UBQLN2 G>A	X	56590492	56590492	G	A	UBQLN2	c.186G>A	NM_013444.4	NP_038472.2:p.(Ser62=)	NC_000023.10:g.56590492G>A	(Likely) benign	1 lab	26c14a95d7
7:98609946 TRRAP C>T	7	98609946	98609946	C	T	TRRAP	c.11548C>T	NM_001244580.2	NP_001231509.1:p.(Arg3850Cys)	NC_000007.13:g.98609946C>T	VUS	1 lab	26c38d91c1
2:179406226 TTN G>C	2	179406226	179406226	G	C	TTN	c.97578C>G	NM_001267550.2	NP_001254479.2:p.(Asp32526Glu)	NC_000002.11:g.179406226G>C	VUS	1 lab	26c40a7308
9:107550222 ABCA1 G>A	9	107550222	107550222	G	A	ABCA1	c.6183C>T	NM_005502.4	NP_005493.2:p.(Gly2061=)	NC_000009.11:g.107550222G>A	(Likely) benign	1 lab	26c42b3852
3:138493213 MISSING C>Alt too long to show for this DUP	3	138493213	138836902	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.138493214_138836902dup	VUS	1 lab	26c5acce1a
1:237972289 RYR2 G>A	1	237972289	237972289	G	A	RYR2	c.14387G>A	NM_001035.3	NP_001026.2:p.(Ser4796Asn)	NC_000001.10:g.237972289G>A	VUS	1 lab	26c6b69576
3:154834550 MME T>G	3	154834550	154834550	T	G	MME	c.535+2T>G	NM_007288.3	NP_009219.2:p.?	NC_000003.11:g.154834550T>G	VUS	1 lab	27d85c2750
3:100963651 IMPG2 T>G	3	100963651	100963651	T	G	IMPG2	c.1544-20A>C	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100963651T>G	(Likely) benign	1 lab	26c6efbe8a
2:220500208 SLC4A3 C>A	2	220500208	220500208	C	A	SLC4A3	c.2043C>A	NM_201574.3	NP_963868.3:p.(Ala681=)	NC_000002.11:g.220500208C>A	(Likely) benign	1 lab	26c77c96b5
2:21230858 APOB T>C	2	21230858	21230858	T	C	APOB	c.8882A>G	NM_000384.3	NP_000375.3:p.(Asn2961Ser)	NC_000002.11:g.21230858T>C	(Likely) benign	1 lab	26c8d6c060
1:21890881 ALPL A>G	1	21890881	21890881	A	G	ALPL	c.648+172A>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21890881A>G	(Likely) benign	1 lab	26ca6a6a51
8:144297004 GPIHBP1 A>G	8	144297004	144297004	A	G	GPIHBP1	c.295+3A>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297004A>G	(Likely) benign	1 lab	26cae355a7
15:85401616 ALPK3 C>T	15	85401616	85401616	C	T	ALPK3	c.3647C>T	NM_020778.5	NP_065829.4:p.(Thr1216Met)	NC_000015.9:g.85401616C>T	VUS	1 lab	26cc5337ca
1:3301733 PRDM16 C>T	1	3301733	3301733	C	T	PRDM16	c.456C>T	NM_022114.4	NP_071397.3:p.(Gly152=)	NC_000001.10:g.3301733C>T	(Likely) benign	1 lab	26cde76174
6:75814911 COL12A1 A>G	6	75814911	75814911	A	G	COL12A1	c.8265+11T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75814911A>G	(Likely) benign	1 lab	26d0c539cb
5:16478141 RETREG1 A>G	5	16478141	16478141	A	G	RETREG1	c.873+2T>C	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16478141A>G	(Likely) pathogenic	1 lab	26d2420bef
19:40900953 PRX G>A	19	40900953	40900953	G	A	PRX	c.3306C>T	NM_181882.3	NP_870998.2:p.(Val1102=)	NC_000019.9:g.40900953G>A	(Likely) benign	1 lab	26d25d1277
9:111663793 ELP1 C>T	9	111663793	111663793	C	T	ELP1	c.1926G>A	NM_003640.5	NP_003631.2:p.(Thr642=)	NC_000009.11:g.111663793C>T	(Likely) benign	1 lab	26d28db785
16:67976823 LCAT C>T	16	67976823	67976823	C	T	LCAT	c.368G>A	NM_000229.2	NP_000220.1:p.(Arg123His)	NC_000016.9:g.67976823C>T	(Likely) pathogenic	1 lab	26d4b5bb89
17:45300376 MYL4 C>T	17	45300376	45300376	C	T	MYL4	c.566-4C>T	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45300376C>T	(Likely) benign	1 lab	26d586b6f8
11:116707130 APOA1 G>A	11	116707130	116707130	G	A	APOA1	c.-127-3C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707130G>A	VUS	1 lab	26d686d3cf
6:32010465 TNXB C>T	6	32010465	32010465	C	T	TNXB	c.12052+11G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010465C>T	(Likely) benign	1 lab	26db79c44d
6:7580119 DSP C>A	6	7580119	7580119	C	A	DSP	c.3696C>A	NM_004415.4	NP_004406.2:p.(Ser1232=)	NC_000006.11:g.7580119C>A	(Likely) benign	1 lab	26dccbbdb6
16:1005470 LMF1 TAC>T	16	1005470	1005485	TAC	T	LMF1	c.-361-806_-361-805del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005484_1005485del	(Likely) benign	1 lab	26dd4613e1
10:112559507 RBM20 A>G	10	112559507	112559507	A	G	RBM20	c.1669-38A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112559507A>G	(Likely) benign	1 lab	26e19811ee
12:133235871 POLE G>T	12	133235871	133235871	G	T	POLE	c.3275+10C>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133235871G>T	(Likely) benign	1 lab	26e51dc447
9:107566902 ABCA1 G>T	9	107566902	107566902	G	T	ABCA1	c.4559+5C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107566902G>T	VUS	1 lab	26e5266035
10:87937995 GRID1 T>Alt too long to show for this DUP	10	87937995	87991609	T	Alt too long to show for this DUP	GRID1	c.236-25203_520+28125dup	NM_017551.3	NP_060021.1:p.?	NC_000010.10:g.87937997_87991609dup	VUS	1 lab	26e7242512
6:107070853 RTN4IP1 TAC>T	6	107070853	107070856	TAC	T	RTN4IP1	c.275-11_275-10del	NM_032730.5	NP_116119.2:p.?	NC_000006.11:g.107070855_107070856del	(Likely) benign	1 lab	26eb9c0b47
8:145001784 PLEC A>G	8	145001784	145001784	A	G	PLEC	c.3961T>C	NM_201380.4	NP_958782.1:p.(Leu1321=)	NC_000008.10:g.145001784A>G	(Likely) benign	1 lab	26eec08d49
20:42744861 JPH2 G>A	20	42744861	42744861	G	A	JPH2	c.1454C>T	NM_020433.5	NP_065166.2:p.(Pro485Leu)	NC_000020.10:g.42744861G>A	VUS	1 lab	26efb76060
7:91670137 AKAP9 G>T	7	91670137	91670137	G	T	AKAP9	c.4842G>T	NM_005751.5	NP_005742.4:p.(Arg1614=)	NC_000007.13:g.91670137G>T	(Likely) benign	1 lab	26f115b074
11:47370806 MYBPC3 C>A	11	47370806	47370806	C	A	MYBPC3	c.654+519G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370806C>A	(Likely) benign	1 lab	27fd184772
19:45411041 APOE C>T	19	45411041	45411041	C	T	APOE	c.146C>T	NM_001302688.2	NP_001289617.1:p.(Ala49Val)	NC_000019.9:g.45411041C>T	VUS	1 lab	26f36f48fb
X:57162895 SPIN2A G>A	X	57162895	57162895	G	A	SPIN2A	c.136C>T	NM_019003.4	NP_061876.3:p.(Arg46Cys)	NC_000023.10:g.57162895G>A	(Likely) benign	1 lab	26f4a766e9
3:160142810 SMC4 A>ATGTGTGTGTGTGTGTG	3	160142810	160142841	A	ATGTGTGTGTGTGTGTG	SMC4	c.2478+19_2478+34dup	NM_001002800.3	NP_001002800.1:p.?	NC_000003.11:g.160142826_160142841dup	(Likely) benign	1 lab	2700152644
10:69926356 MYPN G>A	10	69926356	69926356	G	A	MYPN	c.1906G>A	NM_032578.4	NP_115967.2:p.(Ala636Thr)	NC_000010.10:g.69926356G>A	VUS	1 lab	2703da460e
X:134973694 MISSING Ref too long to show for this DEL>T	X	134973694	135012078	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.134973695_135012078del	VUS	1 lab	2704089742
11:65631985 MUS81 T>C	11	65631985	65631985	T	C	MUS81	c.1077T>C	NM_025128.5	NP_079404.3:p.(Cys359=)	NC_000011.9:g.65631985T>C	(Likely) benign	1 lab	2705879462
15:42701982 CAPN3 CAGGA>C	15	42701982	42701986	CAGGA	C	CAPN3	c.1993-2_1994del	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42701983_42701986del	(Likely) pathogenic	1 lab	270ab1e063
19:11216107 LDLR T>TGGCTCGGA	19	11216107	11216115	T	TGGCTCGGA	LDLR	c.526_533dup	NM_000527.5	NP_000518.1:p.(Asp178GlufsTer31)	NC_000019.9:g.11216108_11216115dup	(Likely) pathogenic	1 lab	270be7485f
3:81698964 GBE1 G>T	3	81698964	81698964	G	T	GBE1	c.538C>A	NM_000158.4	NP_000149.4:p.(Pro180Thr)	NC_000003.11:g.81698964G>T	VUS	1 lab	2a25f19bf1
11:68703761 IGHMBP2 C>T	11	68703761	68703761	C	T	IGHMBP2	c.1813C>T	NM_002180.3	NP_002171.2:p.(Arg605Ter)	NC_000011.9:g.68703761C>T	(Likely) pathogenic	1 lab	270dd8fea2
2:179452124 TTN C>G	2	179452124	179452124	C	G	TTN	c.56110G>C	NM_133378.4	NP_596869.4:p.(Asp18704His)	NC_000002.11:g.179452124C>G	VUS	1 lab	27123b5fe2
19:8651303 ADAMTS10 T>TG	19	8651303	8651308	T	TG	ADAMTS10	c.2454dup	NM_030957.4	NP_112219.3:p.(Ile819HisfsTer4)	NC_000019.9:g.8651308dup	(Likely) pathogenic	1 lab	2712cc72af
1:236889491 ACTN2 T>C	1	236889491	236889491	T	C	ACTN2	c.536+171T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236889491T>C	(Likely) benign	1 lab	27146eab36
17:1141152 MISSING Ref too long to show for this DEL>T	17	1141152	1181303	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.1141153_1181303del	VUS	1 lab	2717201ec3
4:114294316 ANK2 C>A	4	114294316	114294316	C	A	ANK2	c.11915C>A	NM_001386174.1	NP_001373103.1:p.(Thr3972Asn)	NC_000004.11:g.114294316C>A	VUS	1 lab	272c52d3bb
X:103434271 MISSING A>Alt too long to show for this DUP	X	103434271	103640380	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.103434272_103640380dup	(Likely) pathogenic	1 lab	271acfb4d5
7:72643631 MISSING Ref too long to show for this DEL>A	7	72643631	72718126	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72643634_72718126del	VUS	1 lab	271cf83eac
4:2909439 MISSING T>Alt too long to show for this DUP	4	2909439	3189646	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.2909440_3189646dup	VUS	1 lab	27206dcacb
6:42689844 PRPH2 G>C	6	42689844	42689844	G	C	PRPH2	c.229C>G	NM_000322.5	NP_000313.2:p.(Leu77Val)	NC_000006.11:g.42689844G>C	VUS	1 lab	2720d14af0
16:1004376 LMF1 C>G	16	1004376	1004376	C	G	LMF1	c.484G>C	NM_022773.4	NP_073610.2:p.(Val162Leu)	NC_000016.9:g.1004376C>G	VUS	1 lab	27225dbb1d
19:11216276 LDLR G>A	19	11216276	11216276	G	A	LDLR	c.694G>A	NM_000527.5	NP_000518.1:p.(Ala232Thr)	NC_000019.9:g.11216276G>A	(Likely) pathogenic	1 lab	2727422117
2:179559320 TTN G>GTA	2	179559320	179559324	G	GTA	TTN	c.31426+4_31426+5dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559323_179559324dup	(Likely) benign	1 lab	2729065e41
4:184618936 TRAPPC11 G>C	4	184618936	184618936	G	C	TRAPPC11	c.2799G>C	NM_021942.6	NP_068761.4:p.(Gln933His)	NC_000004.11:g.184618936G>C	(Likely) benign	1 lab	2729c60768
X:48214185 SSX3 CAA>C	X	48214185	48214199	CAA	C	SSX3	c.70-6_70-5del	NM_021014.4	NP_066294.1:p.?	NC_000023.10:g.48214198_48214199del	(Likely) benign	1 lab	272a149b55
15:58837927 LIPC T>G	15	58837927	58837927	T	G	LIPC	c.575-14T>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837927T>G	(Likely) benign	1 lab	273102cdbe
6:75861929 COL12A1 C>T	6	75861929	75861929	C	T	COL12A1	c.3753G>A	NM_004370.6	NP_004361.3:p.(Trp1251Ter)	NC_000006.11:g.75861929C>T	VUS	1 lab	2734ca060f
11:89028435 TYR CT>C	11	89028435	89028437	CT	C	TYR	c.1493del	NM_000372.5	NP_000363.1:p.(Leu498CysfsTer38)	NC_000011.9:g.89028437del	(Likely) pathogenic	1 lab	273565c8c1
14:67490301 MISSING C>Alt too long to show for this DUP	14	67490301	68120187	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.67490303_68120187dup	VUS	1 lab	2738c296d6
16:1005092 LMF1 C>T	16	1005092	1005092	C	T	LMF1	c.-361-426G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005092C>T	(Likely) benign	1 lab	273ae8e6c3
2:21233189 APOB T>C	2	21233189	21233189	T	C	APOB	c.6551A>G	NM_000384.3	NP_000375.3:p.(Tyr2184Cys)	NC_000002.11:g.21233189T>C	(Likely) benign	1 lab	274106e039
2:44055510 ABCG5 C>T	2	44055510	44055510	C	T	ABCG5	c.502-256G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055510C>T	(Likely) benign	1 lab	2743a3c35d
19:8174650 FBN3 A>G	19	8174650	8174650	A	G	FBN3	c.4334-13T>C	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8174650A>G	(Likely) benign	1 lab	2745efbdb9
12:116429572 MED13L C>A	12	116429572	116429572	C	A	MED13L	c.3187G>T	NM_015335.5	NP_056150.1:p.(Gly1063Trp)	NC_000012.11:g.116429572C>A	VUS	1 lab	274bd92867
2:44101060 ABCG8 C>T	2	44101060	44101060	C	T	ABCG8	c.1346C>T	NM_022437.3	NP_071882.1:p.(Ala449Val)	NC_000002.11:g.44101060C>T	VUS	1 lab	274be43cfe
17:40695491 NAGLU C>T	17	40695491	40695491	C	T	NAGLU	c.1467C>T	NM_000263.4	NP_000254.2:p.(Asp489=)	NC_000017.10:g.40695491C>T	(Likely) benign	1 lab	2750559bd2
9:126136026 CRB2 TGACCTCTTC>T	9	126136026	126136038	TGACCTCTTC	T	CRB2	c.3220_3228del	NM_173689.7	NP_775960.4:p.(Leu1074_Asp1076del)	NC_000009.11:g.126136030_126136038del	(Likely) pathogenic	1 lab	27518ed5b6
11:66278577 BBS1 A>G	11	66278577	66278577	A	G	BBS1	c.124+17A>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66278577A>G	(Likely) benign	1 lab	2754a7f1eb
15:45431806 DUOX1 G>T	15	45431806	45431806	G	T	DUOX1	c.1389+9G>T	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45431806G>T	(Likely) benign	1 lab	2755ae689b
16:1020849 LMF1 G>A	16	1020849	1020849	G	A	LMF1	c.132C>T	NM_022773.4	NP_073610.2:p.(Leu44=)	NC_000016.9:g.1020849G>A	(Likely) benign	1 lab	2755d2f4c2
2:179575549 TTN C>T	2	179575549	179575549	C	T	TTN	c.28275G>A	NM_001267550.2	NP_001254479.2:p.(Pro9425=)	NC_000002.11:g.179575549C>T	(Likely) benign	1 lab	275747e709
1:237969536 RYR2 A>G	1	237969536	237969536	A	G	RYR2	c.14251A>G	NM_001035.3	NP_001026.2:p.(Lys4751Glu)	NC_000001.10:g.237969536A>G	(Likely) pathogenic	1 lab	2758c17ea3
4:99908624 MISSING Ref too long to show for this DEL>T	4	99908624	100060284	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.99908625_100060284del	VUS	1 lab	275985e33d
18:33058318 INO80C GAAA>G	18	33058318	33058334	GAAA	G	INO80C	c.488-8_488-6del	NM_001098817.2	NP_001092287.1:p.?	NC_000018.9:g.33058332_33058334del	(Likely) benign	1 lab	2759e082bd
14:80993330 CEP128 G>GAA	14	80993330	80993342	G	GAA	CEP128	c.2959-6_2959-5dup	NM_152446.5	NP_689659.2:p.?	NC_000014.8:g.80993341_80993342dup	(Likely) benign	1 lab	2761a2960e
16:14897625 MISSING Ref too long to show for this DEL>T	16	14897625	16519467	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.14897626_16519467del	(Likely) pathogenic	1 lab	276468f812
17:15142908 PMP22 C>G	17	15142908	15142908	C	G	PMP22	c.199G>C	NM_000304.4	NP_000295.1:p.(Ala67Pro)	NC_000017.10:g.15142908C>G	(Likely) pathogenic	1 lab	2765bfd0ee
19:49691910 TRPM4 G>C	19	49691910	49691910	G	C	TRPM4	c.1756G>C	NM_017636.4	NP_060106.2:p.(Val586Leu)	NC_000019.9:g.49691910G>C	VUS	1 lab	2766ae4382
16:1810456 MAPK8IP3 G>A	16	1810456	1810456	G	A	MAPK8IP3	c.1380G>A	NM_001318852.2	NP_001305781.1:p.(Arg460=)	NC_000016.9:g.1810456G>A	(Likely) benign	1 lab	276715466f
X:70444123 GJB1 T>G	X	70444123	70444123	T	G	GJB1	c.566T>G	NM_000166.6	NP_000157.1:p.(Val189Gly)	NC_000023.10:g.70444123T>G	(Likely) pathogenic	1 lab	2768bdbf2a
11:1861850 TNNI2 G>A	11	1861850	1861850	G	A	TNNI2	c.150G>A	NM_001145829.2	NP_001139301.1:p.(Pro50=)	NC_000011.9:g.1861850G>A	(Likely) benign	1 lab	2768fb3edf
20:45002951 ELMO2 AG>A	20	45002951	45002954	AG	A	ELMO2	c.1279+19del	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45002954del	(Likely) benign	1 lab	276c534c18
9:107591296 ABCA1 C>T	9	107591296	107591296	C	T	ABCA1	c.2016G>A	NM_005502.4	NP_005493.2:p.(Arg672=)	NC_000009.11:g.107591296C>T	(Likely) benign	1 lab	276e462791
1:26813802 MISSING C>Alt too long to show for this DUP	1	26813802	27041775	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.26813807_27041775dup	(Likely) pathogenic	1 lab	2770af6752
7:91632424 AKAP9 A>G	7	91632424	91632424	A	G	AKAP9	c.3193A>G	NM_005751.5	NP_005742.4:p.(Ser1065Gly)	NC_000007.13:g.91632424A>G	(Likely) benign	1 lab	27716a337a
4:119689321 SEC24D T>TG	4	119689321	119689322	T	TG	SEC24D	c.1183+6dup	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119689322dup	(Likely) benign	1 lab	277428373c
9:107546752 ABCA1 G>C	9	107546752	107546752	G	C	ABCA1	c.6646-16C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546752G>C	(Likely) benign	1 lab	277df6dfa5
2:179542885 TTN C>T	2	179542885	179542885	C	T	TTN	c.33961G>A	NM_001267550.2	NP_001254479.2:p.(Val11321Ile)	NC_000002.11:g.179542885C>T	VUS	1 lab	277e3243c4
6:32009307 TNXB C>G	6	32009307	32009307	C	G	TNXB	c.12628-80G>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009307C>G	(Likely) benign	1 lab	277e99df50
12:88523546 CEP290 T>C	12	88523546	88523546	T	C	CEP290	c.777A>G	NM_025114.4	NP_079390.3:p.(Arg259=)	NC_000012.11:g.88523546T>C	(Likely) benign	1 lab	277ef5e1c6
9:107558377 ABCA1 T>C	9	107558377	107558377	T	C	ABCA1	c.5339A>G	NM_005502.4	NP_005493.2:p.(Asn1780Ser)	NC_000009.11:g.107558377T>C	VUS	1 lab	277fca34f9
16:46764585 MYLK3 A>G	16	46764585	46764585	A	G	MYLK3	c.1488T>C	NM_182493.3	NP_872299.2:p.(Pro496=)	NC_000016.9:g.46764585A>G	(Likely) benign	1 lab	27813de527
X:123194890 STAG2 Ref too long to show for this DEL>C	X	123194890	123200080	Ref too long to show for this DEL	C	STAG2	c.1417-183_2152del	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123194891_123200080del	VUS	1 lab	2781c5103d
9:135139721 SETX C>A	9	135139721	135139721	C	A	SETX	c.7939G>T	NM_001351527.2	NP_001338456.1:p.(Gly2647Cys)	NC_000009.11:g.135139721C>A	VUS	1 lab	2781e78892
11:95595470 MTMR2 G>A	11	95595470	95595470	G	A	MTMR2	c.107C>T	NM_001243571.2	NP_001230500.1:p.(Thr36Met)	NC_000011.9:g.95595470G>A	VUS	1 lab	27833efef0
6:149700405 TAB2 C>T	6	149700405	149700405	C	T	TAB2	c.1354C>T	NM_015093.6	NP_055908.1:p.(Arg452Ter)	NC_000006.11:g.149700405C>T	(Likely) pathogenic	1 lab	2783b5c017
2:172305177 DCAF17 C>CT	2	172305177	172305188	C	CT	DCAF17	c.322-3dup	NM_025000.4	NP_079276.2:p.?	NC_000002.11:g.172305188dup	(Likely) benign	1 lab	27846ff8f7
20:12756724 MISSING C>Alt too long to show for this DUP	20	12756724	13329963	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.12756725_13329963dup	VUS	1 lab	2784a8b2da
2:179423152 TTN A>G	2	179423152	179423152	A	G	TTN	c.87034T>C	NM_001267550.2	NP_001254479.2:p.(Phe29012Leu)	NC_000002.11:g.179423152A>G	VUS	1 lab	278549f02c
15:48704804 FBN1 G>A	15	48704804	48704804	G	A	FBN1	c.8188C>T	NM_000138.5	NP_000129.3:p.(Arg2730Trp)	NC_000015.9:g.48704804G>A	(Likely) pathogenic	1 lab	278cd81a35
16:28878258 SH2B1 A>T	16	28878258	28878258	A	T	SH2B1	c.843A>T	NM_015503.3	NP_056318.2:p.(Gly281=)	NC_000016.9:g.28878258A>T	(Likely) benign	1 lab	278ecfc84e
16:89833663 FANCA A>G	16	89833663	89833663	A	G	FANCA	c.2505-18T>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89833663A>G	(Likely) benign	1 lab	279728ba51
15:45400338 DUOX2 C>T	15	45400338	45400338	C	T	DUOX2	c.1481G>A	NM_001363711.2	NP_001350640.1:p.(Gly494Glu)	NC_000015.9:g.45400338C>T	VUS	1 lab	2797bf1f97
9:137582935 COL5A1 G>A	9	137582935	137582935	G	A	COL5A1	c.277+10G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137582935G>A	(Likely) benign	1 lab	2798e08d05
14:72941408 RGS6 G>T	14	72941408	72941408	G	T	RGS6	c.693+1G>T	NM_001370282.1	NP_001357211.1:p.?	NC_000014.8:g.72941408G>T	VUS	1 lab	2799627270
16:88496452 ZNF469 G>C	16	88496452	88496452	G	C	ZNF469	c.2574G>C	NM_001367624.2	NP_001354553.1:p.(Pro858=)	NC_000016.9:g.88496452G>C	(Likely) benign	1 lab	279a3abb2c
9:107584965 ABCA1 G>C	9	107584965	107584965	G	C	ABCA1	c.2657-17C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107584965G>C	(Likely) benign	1 lab	279b7273a3
2:179400587 TTN A>G	2	179400587	179400587	A	G	TTN	c.100766-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400587A>G	(Likely) benign	1 lab	279bda7179
2:44102365 ABCG8 A>G	2	44102365	44102365	A	G	ABCG8	c.1569A>G	NM_022437.3	NP_071882.1:p.(Pro523=)	NC_000002.11:g.44102365A>G	(Likely) benign	1 lab	279c06711b
16:67976679 LCAT G>A	16	67976679	67976679	G	A	LCAT	c.428-10C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976679G>A	(Likely) benign	1 lab	279cd66e68
7:128478071 FLNC C>A	7	128478071	128478071	C	A	FLNC	c.1000C>A	NM_001458.5	NP_001449.3:p.(Arg334Ser)	NC_000007.13:g.128478071C>A	VUS	1 lab	27a05f1ea6
11:2869128 KCNQ1 C>T	11	2869128	2869128	C	T	KCNQ1	c.1926C>T	NM_000218.3	NP_000209.2:p.(Cys642=)	NC_000011.9:g.2869128C>T	(Likely) benign	1 lab	2a671922b7
19:39008210 RYR1 C>T	19	39008210	39008210	C	T	RYR1	c.9897C>T	NM_000540.3	NP_000531.2:p.(Gly3299=)	NC_000019.9:g.39008210C>T	(Likely) benign	1 lab	27a4138f6f
14:105175970 INF2 G>A	14	105175970	105175970	G	A	INF2	c.2066G>A	NM_022489.4	NP_071934.3:p.(Arg689Gln)	NC_000014.8:g.105175970G>A	VUS	1 lab	27a577ca55
8:133923750 TG G>T	8	133923750	133923750	G	T	TG	c.4131G>T	NM_003235.5	NP_003226.4:p.(Val1377=)	NC_000008.10:g.133923750G>T	(Likely) benign	1 lab	27aa1d8c67
2:99954002 MISSING G>Alt too long to show for this DUP	2	99954002	100314663	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.99954003_100314663dup	(Likely) pathogenic	1 lab	27aca9beb2
5:177419967 PROP1 C>T	5	177419967	177419967	C	T	PROP1	c.424G>A	NM_006261.5	NP_006252.4:p.(Ala142Thr)	NC_000005.9:g.177419967C>T	(Likely) benign	1 lab	27acdd53b2
12:125292326 SCARB1 G>A	12	125292326	125292326	G	A	SCARB1	c.990C>T	NM_001367981.1	NP_001354910.1:p.(Asn330=)	NC_000012.11:g.125292326G>A	(Likely) benign	1 lab	27aef7dc03
X:50053275 CCNB3 C>T	X	50053275	50053275	C	T	CCNB3	c.2106C>T	NM_033031.3	NP_149020.2:p.(Ala702=)	NC_000023.10:g.50053275C>T	(Likely) benign	1 lab	27b0d1659e
15:23891103 MAGEL2 A>G	15	23891103	23891103	A	G	MAGEL2	c.1787T>C	NM_019066.5	NP_061939.3:p.(Val596Ala)	NC_000015.9:g.23891103A>G	(Likely) benign	1 lab	27b1bc449b
11:12946538 TEAD1 T>C	11	12946538	12946538	T	C	TEAD1	c.953T>C	NM_021961.6	NP_068780.2:p.(Met318Thr)	NC_000011.9:g.12946538T>C	(Likely) benign	1 lab	27b2cb78a1
10:12162869 DHTKD1 C>T	10	12162869	12162869	C	T	DHTKD1	c.2742C>T	NM_018706.7	NP_061176.4:p.(Leu914=)	NC_000010.10:g.12162869C>T	(Likely) benign	1 lab	27bbdd9dda
9:107624007 ABCA1 T>C	9	107624007	107624007	T	C	ABCA1	c.496A>G	NM_005502.4	NP_005493.2:p.(Lys166Glu)	NC_000009.11:g.107624007T>C	(Likely) benign	1 lab	27bbe5b02e
1:63063360 ANGPTL3 C>T	1	63063360	63063360	C	T	ANGPTL3	c.123C>T	NM_014495.4	NP_055310.1:p.(Asp41=)	NC_000001.10:g.63063360C>T	(Likely) benign	1 lab	27bc66e0f4
14:54418817 BMP4 C>G	14	54418817	54418817	C	G	BMP4	c.124G>C	NM_001202.6	NP_001193.2:p.(Ala42Pro)	NC_000014.8:g.54418817C>G	VUS	1 lab	27cca5d2b4
11:65314994 LTBP3 AGCCGCCGTC>A	11	65314994	65315008	AGCCGCCGTC	A	LTBP3	c.2014_2022del	NM_001130144.3	NP_001123616.1:p.(Asp672_Gly674del)	NC_000011.9:g.65315000_65315008del	VUS	1 lab	27bc8f7ed6
16:956519 LMF1 G>A	16	956519	956519	G	A	LMF1	c.264+4412C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.956519G>A	(Likely) benign	1 lab	27be36b880
12:57881856 MARS1 C>T	12	57881856	57881856	C	T	MARS1	c.-18C>T	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57881856C>T	(Likely) benign	1 lab	27c06ec09d
11:47362199 MYBPC3 CAGAG>C	11	47362199	47362203	CAGAG	C	MYBPC3	c.1927+351_1927+354del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362200_47362203del	(Likely) benign	1 lab	27c1648097
12:124341678 DNAH10 G>A	12	124341678	124341678	G	A	DNAH10	c.6160G>A	NM_207437.3	NP_997320.2:p.(Gly2054Ser)	NC_000012.11:g.124341678G>A	VUS	1 lab	27c1f6c4a9
12:122247541 SETD1B A>G	12	122247541	122247541	A	G	SETD1B	c.690A>G	NM_001353345.2	NP_001340274.1:p.(Gly230=)	NC_000012.11:g.122247541A>G	(Likely) benign	1 lab	27c232e41e
8:19818770 LPL CAG>C	8	19818770	19818772	CAG	C	LPL	c.1322+177_1322+178del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818771_19818772del	(Likely) benign	1 lab	27c4cdbd64
10:73765702 CHST3 T>G	10	73765702	73765702	T	G	CHST3	c.102T>G	NM_004273.5	NP_004264.2:p.(Val34=)	NC_000010.10:g.73765702T>G	(Likely) benign	1 lab	27c7ffdb71
12:15539882 PTPRO G>Alt too long to show for this DUP	12	15539882	15731904	G	Alt too long to show for this DUP	PTPRO	c.75+64148_2920+27dup	NM_030667.3	NP_109592.1:p.?	NC_000012.11:g.15539883_15731904dup	VUS	1 lab	27c9f38cbd
11:65308047 LTBP3 T>G	11	65308047	65308047	T	G	LTBP3	c.3016A>C	NM_001130144.3	NP_001123616.1:p.(Lys1006Gln)	NC_000011.9:g.65308047T>G	VUS	1 lab	27d2d79bc8
3:38991598 SCN11A G>T	3	38991598	38991598	G	T	SCN11A	c.256C>A	NM_014139.3	NP_054858.2:p.(Arg86=)	NC_000003.11:g.38991598G>T	(Likely) benign	1 lab	27d7465c8e
X:114856638 PLS3 A>G	X	114856638	114856638	A	G	PLS3	c.154A>G	NM_005032.7	NP_005023.2:p.(Lys52Glu)	NC_000023.10:g.114856638A>G	VUS	1 lab	27dba14b60
19:40519567 ZNF546 TGCAG>T	19	40519567	40519571	TGCAG	T	ZNF546	c.395-4_395-1del	NM_178544.5	NP_848639.2:p.?	NC_000019.9:g.40519568_40519571del	(Likely) benign	1 lab	27de4dcfe9
1:237608842 RYR2 C>G	1	237608842	237608842	C	G	RYR2	c.1292+20C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237608842C>G	(Likely) benign	1 lab	27e185b46e
15:48729599 FBN1 C>T	15	48729599	48729599	C	T	FBN1	c.6314-15G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48729599C>T	(Likely) benign	1 lab	27e1a422e4
15:32895911 GOLGA8N G>A	15	32895911	32895911	G	A	GOLGA8N	c.1716G>A	NM_001282494.1	NP_001269423.1:p.(Lys572=)	NC_000015.9:g.32895911G>A	(Likely) benign	1 lab	27e502a572
X:144905520 SLITRK2 T>G	X	144905520	144905520	T	G	SLITRK2	c.1577T>G	NM_032539.5	NP_115928.1:p.(Leu526Arg)	NC_000023.10:g.144905520T>G	VUS	1 lab	27fbcbfe76
2:44100980 ABCG8 G>A	2	44100980	44100980	G	A	ABCG8	c.1266G>A	NM_022437.3	NP_071882.1:p.(Ala422=)	NC_000002.11:g.44100980G>A	(Likely) benign	1 lab	27eb4315dc
11:95595267 MTMR2 C>CCGTTCCATGCTTTTGAAATA	11	95595267	95595268	C	CCGTTCCATGCTTTTGAAATA	MTMR2	c.142-2_142-1insTATTTCAAAAGCATGGAACG	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95595267_95595268insCGTTCCATGCTTTTGAAATA	(Likely) benign	1 lab	27ec056989
18:12329644 TUBB6 G>A	18	12329644	12329644	G	A	TUBB6	c.*462G>A	NM_001303525.2	NP_001290454.1:p.?	NC_000018.9:g.12329644G>A	(Likely) benign	1 lab	27eca9ea45
19:11222491 LDLR G>C	19	11222491	11222491	G	C	LDLR	c.1186+176G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222491G>C	(Likely) benign	1 lab	27ed425b1c
11:108175500 ATM T>C	11	108175500	108175500	T	C	ATM	c.5595T>C	NM_000051.4	NP_000042.3:p.(His1865=)	NC_000011.9:g.108175500T>C	(Likely) benign	1 lab	27ed74a70e
19:12812909 TNPO2 C>G	19	12812909	12812909	C	G	TNPO2	c.2388G>C	NM_001382241.1	NP_001369170.1:p.(Met796Ile)	NC_000019.9:g.12812909C>G	VUS	1 lab	27f1795e37
X:152772550 BGN C>G	X	152772550	152772550	C	G	BGN	c.816C>G	NM_001711.6	NP_001702.1:p.(Ser272Arg)	NC_000023.10:g.152772550C>G	VUS	1 lab	27f1a9faab
9:101570116 GALNT12 G>A	9	101570116	101570116	G	A	GALNT12	c.136G>A	NM_024642.5	NP_078918.3:p.(Gly46Arg)	NC_000009.11:g.101570116G>A	(Likely) benign	1 lab	27f238a8d1
14:23857124 MYH6 G>T	14	23857124	23857124	G	T	MYH6	c.4368C>A	NM_002471.4	NP_002462.2:p.(Ala1456=)	NC_000014.8:g.23857124G>T	(Likely) benign	1 lab	27f29eeb13
11:37883071 MISSING T>Alt too long to show for this DUP	11	37883071	37999515	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.37883072_37999515dup	VUS	1 lab	27f7e85f29
10:69948667 MYPN C>T	10	69948667	69948667	C	T	MYPN	c.2709C>T	NM_032578.4	NP_115967.2:p.(Tyr903=)	NC_000010.10:g.69948667C>T	(Likely) benign	1 lab	27f821e0e2
11:68153765 LRP5 A>G	11	68153765	68153765	A	G	LRP5	c.-750-19A>G	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68153765A>G	(Likely) benign	1 lab	27f99af89f
16:69364748 COG8 C>A	16	69364748	69364748	C	A	COG8	c.1833G>T	NM_032382.5	NP_115758.3:p.(Gly611=)	NC_000016.9:g.69364748C>A	(Likely) benign	1 lab	27fc07e948
6:49416658 MMUT A>C	6	49416658	49416658	A	C	MMUT	c.1333-18T>G	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49416658A>C	(Likely) benign	1 lab	27fc459bb7
3:170218893 SLC7A14 C>T	3	170218893	170218893	C	T	SLC7A14	c.541+5G>A	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170218893C>T	VUS	1 lab	2803a541ea
1:224588698 WDR26 C>G	1	224588698	224588698	C	G	WDR26	c.1373G>C	NM_025160.7	NP_079436.4:p.(Gly458Ala)	NC_000001.10:g.224588698C>G	VUS	1 lab	28060b3bc2
19:11333596 DOCK6 T>C	19	11333596	11333596	T	C	DOCK6	c.3070-15A>G	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11333596T>C	(Likely) benign	1 lab	28085533c3
9:35711405 TLN1 C>T	9	35711405	35711405	C	T	TLN1	c.3880-14G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35711405C>T	(Likely) benign	1 lab	2809b2df4a
7:91708898 AKAP9 A>G	7	91708898	91708898	A	G	AKAP9	c.7451A>G	NM_005751.5	NP_005742.4:p.(Lys2484Arg)	NC_000007.13:g.91708898A>G	(Likely) benign	1 lab	280a249ed0
3:154802018 MME A>T	3	154802018	154802018	A	T	MME	c.62A>T	NM_007289.4	NP_009220.2:p.(Lys21Ile)	NC_000003.11:g.154802018A>T	VUS	1 lab	280bc3248c
6:143774253 MISSING A>Alt too long to show for this DUP	6	143774253	144018070	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.143774254_144018070dup	VUS	1 lab	280e20a498
9:107646755 ABCA1 C>T	9	107646755	107646755	C	T	ABCA1	c.255G>A	NM_005502.4	NP_005493.2:p.(Pro85=)	NC_000009.11:g.107646755C>T	(Likely) benign	1 lab	280ea85f11
1:237519288 RYR2 A>ATG	1	237519288	237519293	A	ATG	RYR2	c.294+7_294+8dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237519292_237519293dup	(Likely) benign	1 lab	2811791637
15:72640101 HEXA TGGAGA>T	15	72640101	72640115	TGGAGA	T	HEXA	c.1074-7_1074-3del	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72640111_72640115del	(Likely) pathogenic	1 lab	2813a23bc1
14:51087355 MISSING A>Alt too long to show for this DUP	14	51087355	51156393	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.51087356_51156393dup	VUS	1 lab	2814bda1bf
2:179578915 TTN GTAAA>G	2	179578915	179578919	GTAAA	G	TTN	c.26483-17_26483-14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578916_179578919del	(Likely) benign	1 lab	281b1ceff0
18:47096075 LIPG C>CT	18	47096075	47096089	C	CT	LIPG	c.571+171dup	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47096089dup	(Likely) benign	1 lab	281b73dba9
2:121742307 GLI2 C>T	2	121742307	121742307	C	T	GLI2	c.1944C>T	NM_005270.5	NP_005261.2:p.(Thr648=)	NC_000002.11:g.121742307C>T	(Likely) benign	1 lab	281e5286a2
6:32024374 TNXB A>G	6	32024374	32024374	A	G	TNXB	c.8132T>C	NM_019105.8	NP_061978.6:p.(Ile2711Thr)	NC_000006.11:g.32024374A>G	(Likely) benign	1 lab	281e5ccf90
10:92679979 ANKRD1 G>C	10	92679979	92679979	G	C	ANKRD1	c.154C>G	NM_014391.3	NP_055206.2:p.(Pro52Ala)	NC_000010.10:g.92679979G>C	VUS	1 lab	281e78a63f
16:29567295 MISSING A>Alt too long to show for this DUP	16	29567295	30177807	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29567296_30177807dup	(Likely) pathogenic	1 lab	281fdba213
1:66067223 LEPR T>G	1	66067223	66067223	T	G	LEPR	c.1143T>G	NM_002303.6	NP_002294.2:p.(Tyr381Ter)	NC_000001.10:g.66067223T>G	(Likely) pathogenic	1 lab	282020a1ce
6:32016214 TNXB C>T	6	32016214	32016214	C	T	TNXB	c.9965G>A	NM_019105.8	NP_061978.6:p.(Arg3322His)	NC_000006.11:g.32016214C>T	VUS	1 lab	28251ed200
X:153040516 PLXNB3 G>A	X	153040516	153040516	G	A	PLXNB3	c.4182G>A	NM_001163257.2	NP_001156729.1:p.(Thr1394=)	NC_000023.10:g.153040516G>A	(Likely) benign	1 lab	28252a60c8
11:89531801 TRIM49 CA>C	11	89531801	89531816	CA	C	TRIM49	c.860-5del	NM_020358.2	NP_065091.1:p.?	NC_000011.9:g.89531816del	(Likely) benign	1 lab	28280812ee
6:25953945 MISSING T>Alt too long to show for this DUP	6	25953945	26364958	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.25953946_26364958dup	VUS	1 lab	283ac2cfbd
10:3202429 PITRM1 G>A	10	3202429	3202429	G	A	PITRM1	c.885C>T	NM_001242307.2	NP_001229236.1:p.(Thr295=)	NC_000010.10:g.3202429G>A	(Likely) benign	1 lab	282b00b489
11:64522303 PYGM G>A	11	64522303	64522303	G	A	PYGM	c.597C>T	NM_001164716.1	NP_001158188.1:p.(Phe199=)	NC_000011.9:g.64522303G>A	VUS	1 lab	282c7137a8
7:91864951 KRIT1 A>C	7	91864951	91864951	A	C	KRIT1	c.495T>G	NM_004912.4	NP_004903.2:p.(Asp165Glu)	NC_000007.13:g.91864951A>C	VUS	1 lab	282cdc8f92
3:75787273 ZNF717 G>T	3	75787273	75787273	G	T	ZNF717	c.1501C>A	NM_001128223.3	NP_001121695.1:p.(His501Asn)	NC_000003.11:g.75787273G>T	(Likely) benign	1 lab	282e20c571
13:50108364 RCBTB1 T>C	13	50108364	50108364	T	C	RCBTB1	c.1490A>G	NM_018191.4	NP_060661.3:p.(Asn497Ser)	NC_000013.10:g.50108364T>C	VUS	1 lab	283250e0bb
5:138145782 CTNNA1 G>A	5	138145782	138145782	G	A	CTNNA1	c.357G>A	NM_001903.5	NP_001894.2:p.(Val119=)	NC_000005.9:g.138145782G>A	(Likely) benign	1 lab	283402c3f1
17:7811000 CHD3 CAG>C	17	7811000	7811002	CAG	C	CHD3	c.5007_5008del	NM_001005273.3	NP_001005273.1:p.(Asp1671PhefsTer10)	NC_000017.10:g.7811001_7811002del	(Likely) pathogenic	1 lab	28376bb312
4:62408333 ADGRL3 A>Alt too long to show for this DUP	4	62408333	62434477	A	Alt too long to show for this DUP	ADGRL3	c.259+25100_260-18468dup	NM_001387552.1	NP_001374481.1:p.?	NC_000004.11:g.62408336_62434477dup	VUS	1 lab	2838b84580
15:25601086 UBE3A G>C	15	25601086	25601086	G	C	UBE3A	c.2017C>G	NM_001354543.2	NP_001341472.1:p.(Leu673Val)	NC_000015.9:g.25601086G>C	(Likely) pathogenic	1 lab	2839549b5a
7:2578929 BRAT1 G>A	7	2578929	2578929	G	A	BRAT1	c.1654C>T	NM_152743.4	NP_689956.2:p.(Gln552Ter)	NC_000007.13:g.2578929G>A	(Likely) pathogenic	1 lab	283a0e8626
9:111674606 ELP1 G>A	9	111674606	111674606	G	A	ELP1	c.1127C>T	NM_003640.5	NP_003631.2:p.(Thr376Met)	NC_000009.11:g.111674606G>A	VUS	1 lab	283a410e93
10:94381207 KIF11 G>A	10	94381207	94381207	G	A	KIF11	c.1194G>A	NM_004523.4	NP_004514.2:p.(Val398=)	NC_000010.10:g.94381207G>A	(Likely) benign	1 lab	283a543ab5
4:88401614 SPARCL1 A>G	4	88401614	88401614	A	G	SPARCL1	c.1727T>C	NM_004684.6	NP_004675.3:p.(Leu576Pro)	NC_000004.11:g.88401614A>G	VUS	1 lab	283ad13680
6:129724945 LAMA2 T>G	6	129724945	129724945	T	G	LAMA2	c.5727-21T>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129724945T>G	(Likely) benign	1 lab	283b2c2172
11:6644107 DCHS1 T>C	11	6644107	6644107	T	C	DCHS1	c.8800A>G	NM_003737.4	NP_003728.1:p.(Asn2934Asp)	NC_000011.9:g.6644107T>C	VUS	1 lab	283b523402
2:220505600 SLC4A3 C>T	2	220505600	220505600	C	T	SLC4A3	c.3618C>T	NM_201574.3	NP_963868.3:p.(Leu1206=)	NC_000002.11:g.220505600C>T	(Likely) benign	1 lab	283e6bbd32
3:69058783 EOGT C>T	3	69058783	69058783	C	T	EOGT	c.210+5G>A	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69058783C>T	(Likely) benign	1 lab	284108b7d8
1:110709623 SLC6A17 G>C	1	110709623	110709623	G	C	SLC6A17	c.72G>C	NM_001010898.4	NP_001010898.1:p.(Leu24=)	NC_000001.10:g.110709623G>C	(Likely) benign	1 lab	2847065da7
12:189577 MISSING Ref too long to show for this DEL>G	12	189577	4127184	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.189578_4127184del	(Likely) pathogenic	1 lab	284aaf6ed1
13:32968891 BRCA2 G>A	13	32968891	32968891	G	A	BRCA2	c.9322G>A	NM_000059.4	NP_000050.3:p.(Asp3108Asn)	NC_000013.10:g.32968891G>A	VUS	1 lab	284dc56aa4
11:19251826 E2F8 G>A	11	19251826	19251826	G	A	E2F8	c.1320C>T	NM_024680.4	NP_078956.2:p.(Leu440=)	NC_000011.9:g.19251826G>A	(Likely) benign	1 lab	284ec0cd8d
1:209914406 MISSING A>Alt too long to show for this DUP	1	209914406	209938242	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.209914409_209938242dup	VUS	1 lab	284fbd06b9
16:984246 LMF1 A>G	16	984246	984246	A	G	LMF1	c.512T>C	NM_022773.4	NP_073610.2:p.(Phe171Ser)	NC_000016.9:g.984246A>G	VUS	1 lab	284fd0cc5f
10:126673560 ZRANB1 GA>G	10	126673560	126673570	GA	G	ZRANB1	c.*9del	NM_017580.3	NP_060050.2:p.?	NC_000010.10:g.126673570del	(Likely) benign	1 lab	2852422f85
9:107576120 ABCA1 A>G	9	107576120	107576120	A	G	ABCA1	c.3901+279T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576120A>G	(Likely) benign	1 lab	28524a09b2
2:179595516 TTN A>C	2	179595516	179595516	A	C	TTN	c.17744T>G	NM_001267550.2	NP_001254479.2:p.(Leu5915Arg)	NC_000002.11:g.179595516A>C	VUS	1 lab	285309e7ec
7:44144480 AEBP1 G>C	7	44144480	44144480	G	C	AEBP1	c.216G>C	NM_001129.5	NP_001120.3:p.(Gly72=)	NC_000007.13:g.44144480G>C	(Likely) benign	1 lab	2858baa525
10:90983533 LIPA C>T	10	90983533	90983533	C	T	LIPA	c.730G>A	NM_000235.4	NP_000226.2:p.(Gly244Ser)	NC_000010.10:g.90983533C>T	(Likely) benign	1 lab	285a829247
14:23885445 MYH7 C>T	14	23885445	23885445	C	T	MYH7	c.4721G>A	NM_000257.4	NP_000248.2:p.(Arg1574Gln)	NC_000014.8:g.23885445C>T	VUS	1 lab	285aba5450
5:133948372 SAR1B G>A	5	133948372	133948372	G	A	SAR1B	c.244+9C>T	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948372G>A	(Likely) benign	1 lab	285e88faaa
15:30819263 MISSING Ref too long to show for this DEL>C	15	30819263	32914280	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.30819264_32914280del	(Likely) pathogenic	1 lab	2861057dd5
17:42290235 UBTF C>T	17	42290235	42290235	C	T	UBTF	c.612G>A	NM_014233.4	NP_055048.1:p.(Gln204=)	NC_000017.10:g.42290235C>T	(Likely) benign	1 lab	28632c8316
3:38968409 SCN11A C>CAGTGAAGA	3	38968409	38968417	C	CAGTGAAGA	SCN11A	c.494_501dup	NM_001349253.2	NP_001336182.1:p.(Gly168SerfsTer11)	NC_000003.11:g.38968410_38968417dup	VUS	1 lab	28640cc3c2
11:17518352 USH1C G>A	11	17518352	17518352	G	A	USH1C	c.2499C>T	NM_153676.4	NP_710142.1:p.(Ile833=)	NC_000011.9:g.17518352G>A	(Likely) benign	1 lab	28646a56c4
2:21230292 APOB A>G	2	21230292	21230292	A	G	APOB	c.9448T>C	NM_000384.3	NP_000375.3:p.(Phe3150Leu)	NC_000002.11:g.21230292A>G	VUS	1 lab	286740185e
1:152188015 HRNR G>A	1	152188015	152188015	G	A	HRNR	c.6090C>T	NM_001009931.3	NP_001009931.1:p.(Gly2030=)	NC_000001.10:g.152188015G>A	(Likely) benign	1 lab	286a43f897
16:930180 LMF1 G>A	16	930180	930180	G	A	LMF1	c.331-443C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.930180G>A	(Likely) benign	1 lab	286b2524b8
1:64125368 PGM1 C>T	1	64125368	64125368	C	T	PGM1	c.*22C>T	NM_001172818.1	NP_001166289.1:p.?	NC_000001.10:g.64125368C>T	(Likely) benign	1 lab	286cde52fd
6:112443256 LAMA4 C>T	6	112443256	112443256	C	T	LAMA4	c.4436G>A	NM_001105206.3	NP_001098676.2:p.(Arg1479His)	NC_000006.11:g.112443256C>T	VUS	1 lab	286dac7657
20:32026831 SNTA1 G>T	20	32026831	32026831	G	T	SNTA1	c.312C>A	NM_003098.3	NP_003089.1:p.(Gly104=)	NC_000020.10:g.32026831G>T	(Likely) benign	1 lab	286ea3b51a
6:75806725 COL12A1 G>A	6	75806725	75806725	G	A	COL12A1	c.8577+244C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75806725G>A	(Likely) benign	1 lab	286eb1dbec
19:1222012 STK11 G>A	19	1222012	1222012	G	A	STK11	c.920+7G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222012G>A	(Likely) benign	1 lab	2872494b13
2:21234378 APOB G>A	2	21234378	21234378	G	A	APOB	c.5362C>T	NM_000384.3	NP_000375.3:p.(Leu1788=)	NC_000002.11:g.21234378G>A	(Likely) benign	1 lab	2874d7acc1
11:65318589 LTBP3 G>A	11	65318589	65318589	G	A	LTBP3	c.1720+8C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318589G>A	(Likely) benign	1 lab	287852eb8b
2:44104805 ABCG8 C>T	2	44104805	44104805	C	T	ABCG8	c.1862C>T	NM_022437.3	NP_071882.1:p.(Thr621Ile)	NC_000002.11:g.44104805C>T	VUS	1 lab	2878aa8053
20:32000361 SNTA1 G>A	20	32000361	32000361	G	A	SNTA1	c.909+20C>T	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32000361G>A	(Likely) benign	1 lab	287fd7b196
15:48703481 FBN1 C>T	15	48703481	48703481	C	T	FBN1	c.8322G>A	NM_000138.5	NP_000129.3:p.(Lys2774=)	NC_000015.9:g.48703481C>T	(Likely) benign	1 lab	2881152a39
6:42153494 GUCA1B T>C	6	42153494	42153494	T	C	GUCA1B	c.399A>G	NM_002098.6	NP_002089.4:p.(Gln133=)	NC_000006.11:g.42153494T>C	(Likely) benign	1 lab	2885c0dbb7
1:74801701 TNNI3K C>T	1	74801701	74801701	C	T	TNNI3K	c.550C>T	NM_015978.3	NP_057062.1:p.(Arg184Cys)	NC_000001.10:g.74801701C>T	VUS	1 lab	2885c78b0a
19:45412271 APOE G>A	19	45412271	45412271	G	A	APOE	c.796G>A	NM_001302688.2	NP_001289617.1:p.(Gly266Ser)	NC_000019.9:g.45412271G>A	VUS	1 lab	2885d97fc0
2:179430334 TTN C>A	2	179430334	179430334	C	A	TTN	c.80525G>T	NM_001267550.2	NP_001254479.2:p.(Gly26842Val)	NC_000002.11:g.179430334C>A	VUS	1 lab	28876aeb99
2:202073787 CASP10 A>T	2	202073787	202073787	A	T	CASP10	c.923-6A>T	NM_032977.4	NP_116759.2:p.?	NC_000002.11:g.202073787A>T	(Likely) benign	1 lab	288804351a
19:10912997 DNM2 A>G	19	10912997	10912997	A	G	DNM2	c.1456A>G	NM_001005360.3	NP_001005360.1:p.(Ile486Val)	NC_000019.9:g.10912997A>G	VUS	1 lab	288ad43896
12:125302103 SCARB1 C>T	12	125302103	125302103	C	T	SCARB1	c.277G>A	NM_001367981.1	NP_001354910.1:p.(Val93Met)	NC_000012.11:g.125302103C>T	VUS	1 lab	288c31295f
11:119212501 MFRP C>T	11	119212501	119212501	C	T	MFRP	c.1516-19G>A	NM_031433.4	NP_113621.1:p.?	NC_000011.9:g.119212501C>T	(Likely) benign	1 lab	288cb46099
6:16130883 MYLIP G>C	6	16130883	16130883	G	C	MYLIP	c.183G>C	NM_013262.4	NP_037394.2:p.(Arg61=)	NC_000006.11:g.16130883G>C	(Likely) benign	1 lab	288cd7bdd3
2:21229420 APOB G>A	2	21229420	21229420	G	A	APOB	c.10320C>T	NM_000384.3	NP_000375.3:p.(Phe3440=)	NC_000002.11:g.21229420G>A	(Likely) benign	1 lab	288ffa4ce5
9:107581915 ABCA1 G>T	9	107581915	107581915	G	T	ABCA1	c.3193C>A	NM_005502.4	NP_005493.2:p.(Pro1065Thr)	NC_000009.11:g.107581915G>T	VUS	1 lab	2893afc3e3
4:8869701 HMX1 G>A	4	8869701	8869701	G	A	HMX1	c.765C>T	NM_018942.3	NP_061815.2:p.(Arg255=)	NC_000004.11:g.8869701G>A	(Likely) benign	1 lab	28950fa4b6
1:103379972 COL11A1 G>A	1	103379972	103379972	G	A	COL11A1	c.3961-11C>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103379972G>A	(Likely) benign	1 lab	289581c8ee
3:38962652 SCN11A C>T	3	38962652	38962652	C	T	SCN11A	c.807G>A	NM_001349253.2	NP_001336182.1:p.(Leu269=)	NC_000003.11:g.38962652C>T	(Likely) benign	1 lab	2895f117ce
22:27021525 CRYBA4 G>C	22	27021525	27021525	G	C	CRYBA4	c.239G>C	NM_001886.3	NP_001877.1:p.(Trp80Ser)	NC_000022.10:g.27021525G>C	(Likely) pathogenic	1 lab	289732ed5f
2:179483336 TTN T>C	2	179483336	179483336	T	C	TTN	c.46941A>G	NM_001267550.2	NP_001254479.2:p.(Glu15647=)	NC_000002.11:g.179483336T>C	(Likely) benign	1 lab	2898f13b6d
X:147943805 AFF2 Ref too long to show for this DEL>T	X	147943805	147948459	Ref too long to show for this DEL	T	AFF2	c.1262+18849_1263-18960del	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.147943806_147948459del	VUS	1 lab	289acaaa04
22:50898533 SBF1 G>A	22	50898533	50898533	G	A	SBF1	c.3339C>T	NM_002972.4	NP_002963.2:p.(Ser1113=)	NC_000022.10:g.50898533G>A	(Likely) benign	1 lab	289acb592c
12:21962775 ABCC9 A>G	12	21962775	21962775	A	G	ABCC9	c.4315+11T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21962775A>G	(Likely) benign	1 lab	289d70fa20
8:144997656 PLEC C>T	8	144997656	144997656	C	T	PLEC	c.6852G>A	NM_201380.4	NP_958782.1:p.(Ala2284=)	NC_000008.10:g.144997656C>T	(Likely) benign	1 lab	28a112ff73
11:108181058 ATM A>G	11	108181058	108181058	A	G	ATM	c.5918+16A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108181058A>G	(Likely) benign	1 lab	28a4259946
X:48457341 WDR13 TGGA>T	X	48457341	48457346	TGGA	T	WDR13	c.5_6+1del	NM_001166426.3	NP_001159898.1:p.?	NC_000023.10:g.48457344_48457346del	VUS	1 lab	28a4472fa8
15:90176239 KIF7 T>TAGGGAGGGAGGGAGGGAGGGAGGG	15	90176239	90176257	T	TAGGGAGGGAGGGAGGGAGGGAGGG	KIF7	c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCTCCCT	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176256_90176257insGGGAGGGAGGGAGGGAGGGAGGGA	(Likely) benign	1 lab	28a63ed2f6
15:80743350 ARNT2 C>T	15	80743350	80743350	C	T	ARNT2	c.146+15C>T	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80743350C>T	(Likely) benign	1 lab	28a8553504
6:112512868 LAMA4 C>T	6	112512868	112512868	C	T	LAMA4	c.688G>A	NM_001105206.3	NP_001098676.2:p.(Gly230Arg)	NC_000006.11:g.112512868C>T	VUS	1 lab	28a85b45a1
5:33963870 SLC45A2 C>T	5	33963870	33963870	C	T	SLC45A2	c.814G>A	NM_001012509.4	NP_001012527.2:p.(Glu272Lys)	NC_000005.9:g.33963870C>T	(Likely) benign	1 lab	28aa3cba68
20:57470749 GNAS A>T	20	57470749	57470749	A	T	GNAS	c.*73+10A>T	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57470749A>T	(Likely) benign	1 lab	28ad81ce9f
9:79968321 VPS13A C>T	9	79968321	79968321	C	T	VPS13A	c.7420-4C>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79968321C>T	(Likely) benign	1 lab	28adcf06b6
2:44053568 ABCG5 G>A	2	44053568	44053568	G	A	ABCG5	c.727C>T	NM_022436.3	NP_071881.1:p.(Arg243Ter)	NC_000002.11:g.44053568G>A	(Likely) pathogenic	1 lab	28ae05eede
22:36693916 MYH9 Ref too long to show for this DEL>C	22	36693916	36739282	Ref too long to show for this DEL	C	MYH9	c.334-1710_3101-857del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36693918_36739282del	VUS	1 lab	28b6ad581b
3:123418964 MYLK G>T	3	123418964	123418964	G	T	MYLK	c.3351C>A	NM_053025.4	NP_444253.3:p.(Leu1117=)	NC_000003.11:g.123418964G>T	(Likely) benign	1 lab	28ba5174c5
16:6828283 RBFOX1 Ref too long to show for this DEL>C	16	6828283	6961634	Ref too long to show for this DEL	C	RBFOX1	c.-16+123635_-15-140424del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6828286_6961634del	VUS	1 lab	28bbd1f060
X:135039174 MISSING G>Alt too long to show for this DUP	X	135039174	135051544	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.135039175_135051544dup	VUS	1 lab	28bcdb90a0
10:73499459 CDH23 A>G	10	73499459	73499459	A	G	CDH23	c.4418A>G	NM_022124.6	NP_071407.4:p.(Asn1473Ser)	NC_000010.10:g.73499459A>G	VUS	1 lab	28bda117b6
9:137687410 COL5A1 G>A	9	137687410	137687410	G	A	COL5A1	c.2799+249G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137687410G>A	(Likely) benign	1 lab	28bdb02d19
17:63164387 RGS9 G>C	17	63164387	63164387	G	C	RGS9	c.570G>C	NM_003835.4	NP_003826.2:p.(Val190=)	NC_000017.10:g.63164387G>C	(Likely) benign	1 lab	28be432f10
12:32975415 PKP2 T>C	12	32975415	32975415	T	C	PKP2	c.1957A>G	NM_004572.4	NP_004563.2:p.(Arg653Gly)	NC_000012.11:g.32975415T>C	VUS	1 lab	28c0757563
15:42693952 CAPN3 C>A	15	42693952	42693952	C	A	CAPN3	c.1468C>A	NM_000070.3	NP_000061.1:p.(Arg490=)	NC_000015.9:g.42693952C>A	(Likely) benign	1 lab	28c2360e2c
20:42814966 JPH2 C>T	20	42814966	42814966	C	T	JPH2	c.379+1G>A	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42814966C>T	VUS	1 lab	28c34c0d32
7:150759108 SLC4A2 G>A	7	150759108	150759108	G	A	SLC4A2	c.34G>A	NM_001199692.3	NP_001186621.1:p.(Ala12Thr)	NC_000007.13:g.150759108G>A	VUS	1 lab	28c358a523
19:55367157 KIR3DL2 T>A	19	55367157	55367157	T	A	KIR3DL2	c.739T>A	NM_006737.4	NP_006728.2:p.(Trp247Arg)	NC_000019.9:g.55367157T>A	(Likely) benign	1 lab	28c638d655
2:179501537 TTN GT>G	2	179501537	179501538	GT	G	TTN	c.40928-12del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179501538del	(Likely) benign	1 lab	28c916c52c
6:7542095 DSP G>A	6	7542095	7542095	G	A	DSP	c.-54G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7542095G>A	(Likely) benign	1 lab	28c9657c95
16:46763595 MYLK3 G>A	16	46763595	46763595	G	A	MYLK3	c.1573C>T	NM_182493.3	NP_872299.2:p.(Arg525Trp)	NC_000016.9:g.46763595G>A	VUS	1 lab	28c98a6f58
3:184071129 CLCN2 C>CGCG	3	184071129	184071132	C	CGCG	CLCN2	c.1936_1937insCGC	NM_004366.6	NP_004357.3:p.(Arg645_Arg646insPro)	NC_000003.11:g.184071131_184071132insGGC	(Likely) benign	1 lab	28ca05feee
1:210977471 KCNH1 A>C	1	210977471	210977471	A	C	KCNH1	c.1500T>G	NM_172362.3	NP_758872.1:p.(Thr500=)	NC_000001.10:g.210977471A>C	(Likely) benign	1 lab	28cbbe47d7
9:107546635 ABCA1 A>G	9	107546635	107546635	A	G	ABCA1	c.6747T>C	NM_005502.4	NP_005493.2:p.(Ser2249=)	NC_000009.11:g.107546635A>G	(Likely) benign	1 lab	28d26369b8
7:151634203 MISSING T>Alt too long to show for this DUP	7	151634203	152134515	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151634206_152134515dup	VUS	1 lab	28d2a5162a
2:44065725 ABCG5 C>T	2	44065725	44065725	C	T	ABCG5	c.94G>A	NM_022436.3	NP_071881.1:p.(Ala32Thr)	NC_000002.11:g.44065725C>T	(Likely) benign	1 lab	28d43c8517
2:219646902 CYP27A1 A>G	2	219646902	219646902	A	G	CYP27A1	c.-4A>G	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646902A>G	VUS	1 lab	28d4e625ce
19:11227561 LDLR G>T	19	11227561	11227561	G	T	LDLR	c.1732G>T	NM_000527.5	NP_000518.1:p.(Val578Phe)	NC_000019.9:g.11227561G>T	VUS	1 lab	28d5964a85
8:61757523 CHD7 C>T	8	61757523	61757523	C	T	CHD7	c.4951C>T	NM_017780.4	NP_060250.2:p.(Leu1651Phe)	NC_000008.10:g.61757523C>T	VUS	1 lab	28d72812e7
15:23892297 MAGEL2 G>A	15	23892297	23892297	G	A	MAGEL2	c.593C>T	NM_019066.5	NP_061939.3:p.(Pro198Leu)	NC_000015.9:g.23892297G>A	(Likely) benign	1 lab	28d743f7db
6:7583049 DSP C>T	6	7583049	7583049	C	T	DSP	c.5554C>T	NM_004415.4	NP_004406.2:p.(Arg1852Cys)	NC_000006.11:g.7583049C>T	(Likely) benign	1 lab	28d7fe694f
22:41919009 ACO2 C>T	22	41919009	41919009	C	T	ACO2	c.1296+18C>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41919009C>T	(Likely) benign	1 lab	28d87b1ce7
9:139404226 NOTCH1 G>A	9	139404226	139404226	G	A	NOTCH1	c.2928C>T	NM_017617.5	NP_060087.3:p.(Ser976=)	NC_000009.11:g.139404226G>A	(Likely) benign	1 lab	28d8d0839a
X:70443864 GJB1 A>G	X	70443864	70443864	A	G	GJB1	c.307A>G	NM_000166.6	NP_000157.1:p.(Lys103Glu)	NC_000023.10:g.70443864A>G	(Likely) pathogenic	1 lab	28dafef73e
3:100002605 TBC1D23 C>G	3	100002605	100002605	C	G	TBC1D23	c.426C>G	NM_001199198.3	NP_001186127.1:p.(Arg142=)	NC_000003.11:g.100002605C>G	(Likely) benign	1 lab	28db074f55
X:41420787 CASK Ref too long to show for this DEL>A	X	41420787	41666665	Ref too long to show for this DEL	A	CASK	c.173-20128_1668+24del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41420789_41666665del	(Likely) pathogenic	1 lab	28dc855b6b
20:32026852 SNTA1 G>C	20	32026852	32026852	G	C	SNTA1	c.311-20C>G	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32026852G>C	(Likely) benign	1 lab	28df5fd72d
6:102247585 GRIK2 Ref too long to show for this DEL>C	6	102247585	102252797	Ref too long to show for this DEL	C	GRIK2	c.1015_1203+2484del	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102247586_102252797del	VUS	1 lab	28e0314984
4:25160732 SEPSECS TAAAA>T	4	25160732	25160747	TAAAA	T	SEPSECS	c.115-7_115-4del	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25160744_25160747del	(Likely) benign	1 lab	28e49c3ae0
X:91692383 PCDH11X A>Alt too long to show for this DUP	X	91692383	91825726	A	Alt too long to show for this DUP	PCDH11X	c.3344-30914_3368-47537dup	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91692384_91825726dup	(Likely) pathogenic	1 lab	28e80057b3
8:144295155 GPIHBP1 G>A	8	144295155	144295155	G	A	GPIHBP1	c.13G>A	NM_178172.6	NP_835466.2:p.(Gly5Arg)	NC_000008.10:g.144295155G>A	(Likely) benign	1 lab	28eab20041
2:21230034 APOB C>T	2	21230034	21230034	C	T	APOB	c.9706G>A	NM_000384.3	NP_000375.3:p.(Glu3236Lys)	NC_000002.11:g.21230034C>T	VUS	1 lab	28eb402a56
1:214585102 PTPN14 G>T	1	214585102	214585102	G	T	PTPN14	c.443-8C>A	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214585102G>T	(Likely) benign	1 lab	28efea8f5d
9:107574836 ABCA1 C>T	9	107574836	107574836	C	T	ABCA1	c.4050+19G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107574836C>T	(Likely) benign	1 lab	28f301f11c
6:64431026 EYS G>A	6	64431026	64431026	G	A	EYS	c.8964C>T	NM_001292009.2	NP_001278938.1:p.(Tyr2988=)	NC_000006.11:g.64431026G>A	(Likely) benign	1 lab	28f3f3c3ad
2:179544334 TTN G>A	2	179544334	179544334	G	A	TTN	c.33656C>T	NM_001267550.2	NP_001254479.2:p.(Pro11219Leu)	NC_000002.11:g.179544334G>A	VUS	1 lab	28f44d7826
2:200188527 SATB2 T>C	2	200188527	200188527	T	C	SATB2	c.1541A>G	NM_001172509.2	NP_001165980.1:p.(Gln514Arg)	NC_000002.11:g.200188527T>C	(Likely) pathogenic	1 lab	28f5d1db4d
2:179634392 TTN A>ATT	2	179634392	179634398	A	ATT	TTN	c.8902+12_8902+13dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634397_179634398dup	(Likely) benign	1 lab	28f611dd29
11:65319751 LTBP3 G>A	11	65319751	65319751	G	A	LTBP3	c.1313C>T	NM_001130144.3	NP_001123616.1:p.(Ala438Val)	NC_000011.9:g.65319751G>A	(Likely) benign	1 lab	28f677beb6
8:134145863 TG C>T	8	134145863	134145863	C	T	TG	c.8147C>T	NM_003235.5	NP_003226.4:p.(Ser2716Phe)	NC_000008.10:g.134145863C>T	VUS	1 lab	28f6c821cd
2:72656313 EXOC6B T>Alt too long to show for this DUP	2	72656313	72684538	T	Alt too long to show for this DUP	EXOC6B	c.1980+7752_1980+35975dup	NM_015189.3	NP_056004.1:p.?	NC_000002.11:g.72656315_72684538dup	VUS	1 lab	28fa16091f
17:41243931 BRCA1 GC>G	17	41243931	41243935	GC	G	BRCA1	c.3616del	NM_007294.4	NP_009225.1:p.(Ala1206ProfsTer4)	NC_000017.10:g.41243935del	(Likely) pathogenic	1 lab	28faed6cce
2:179482898 TTN T>A	2	179482898	179482898	T	A	TTN	c.47269+18A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179482898T>A	(Likely) benign	1 lab	28fcbf49ac
1:185947106 HMCN1 T>C	1	185947106	185947106	T	C	HMCN1	c.2559T>C	NM_031935.3	NP_114141.2:p.(Phe853=)	NC_000001.10:g.185947106T>C	(Likely) benign	1 lab	28fdce21a2
12:33031890 PKP2 G>T	12	33031890	33031890	G	T	PKP2	c.300C>A	NM_004572.4	NP_004563.2:p.(Gly100=)	NC_000012.11:g.33031890G>T	(Likely) benign	1 lab	28fe0dec01
13:69777108 MISSING Ref too long to show for this DEL>T	13	69777108	70469604	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.69777113_70469604del	VUS	1 lab	28ffaca988
X:52767786 MISSING A>Alt too long to show for this DUP	X	52767786	52923471	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.52767787_52923471dup	VUS	1 lab	290587cb6e
11:32410674 WT1 C>T	11	32410674	32410674	C	T	WT1	c.1499G>A	NM_024426.6	NP_077744.4:p.(Arg500Gln)	NC_000011.9:g.32410674C>T	(Likely) pathogenic	1 lab	2906a031c4
15:22752398 MISSING A>Alt too long to show for this DUP	15	22752398	23082443	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752400_23082443dup	(Likely) pathogenic	1 lab	2907929af7
6:7567622 DSP G>A	6	7567622	7567622	G	A	DSP	c.1080G>A	NM_004415.4	NP_004406.2:p.(Trp360Ter)	NC_000006.11:g.7567622G>A	(Likely) pathogenic	1 lab	29092c5a81
19:55667615 TNNI3 C>A	19	55667615	55667615	C	A	TNNI3	c.236G>T	NM_000363.5	NP_000354.4:p.(Arg79Leu)	NC_000019.9:g.55667615C>A	VUS	1 lab	29097827ed
1:161277192 MPZ G>C	1	161277192	161277192	G	C	MPZ	c.90C>G	NM_000530.8	NP_000521.2:p.(Ile30Met)	NC_000001.10:g.161277192G>C	(Likely) pathogenic	1 lab	290c4e5149
9:35722442 TLN1 T>C	9	35722442	35722442	T	C	TLN1	c.844-222A>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35722442T>C	(Likely) benign	1 lab	2913ce4e62
11:47372652 MYBPC3 C>T	11	47372652	47372652	C	T	MYBPC3	c.292+138G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372652C>T	(Likely) benign	1 lab	29178f3422
1:5940292 NPHP4 C>G	1	5940292	5940292	C	G	NPHP4	c.2493G>C	NM_015102.5	NP_055917.1:p.(Pro831=)	NC_000001.10:g.5940292C>G	(Likely) benign	1 lab	2917ad1fe1
3:197713416 MISSING T>Alt too long to show for this DUP	3	197713416	197837049	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.197713417_197837049dup	VUS	1 lab	291905f8db
12:56845147 MIP GGACA>G	12	56845147	56845156	GGACA	G	MIP	c.705_708del	NM_012064.4	NP_036196.1:p.(Val236SerfsTer22)	NC_000012.11:g.56845153_56845156del	VUS	1 lab	291a30a3d1
15:85410432 ALPK3 T>C	15	85410432	85410432	T	C	ALPK3	c.4724-116T>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410432T>C	(Likely) benign	1 lab	291aefd472
12:32955506 PKP2 T>C	12	32955506	32955506	T	C	PKP2	c.2146-16A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955506T>C	(Likely) benign	1 lab	291d2fac54
9:404995 MISSING G>Alt too long to show for this DUP	9	404995	789845	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.404997_789845dup	VUS	1 lab	291ecf7e8e
16:1004670 LMF1 G>A	16	1004670	1004670	G	A	LMF1	c.-361-4C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004670G>A	(Likely) benign	1 lab	29200465b4
19:10930736 DNM2 C>T	19	10930736	10930736	C	T	DNM2	c.1752C>T	NM_001005360.3	NP_001005360.1:p.(His584=)	NC_000019.9:g.10930736C>T	(Likely) benign	1 lab	2923442fc2
12:125267255 SCARB1 A>G	12	125267255	125267255	A	G	SCARB1	c.1504T>C	NM_001367989.1	NP_001354918.1:p.(Ser502Pro)	NC_000012.11:g.125267255A>G	VUS	1 lab	29264d60f6
2:44078975 ABCG8 C>T	2	44078975	44078975	C	T	ABCG8	c.561+14C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44078975C>T	(Likely) benign	1 lab	2927080fbd
2:44102269 ABCG8 G>A	2	44102269	44102269	G	A	ABCG8	c.1489-16G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102269G>A	(Likely) benign	1 lab	292a426dfe
1:66036280 LEPR G>C	1	66036280	66036280	G	C	LEPR	c.165G>C	NM_001003679.3	NP_001003679.1:p.(Lys55Asn)	NC_000001.10:g.66036280G>C	VUS	1 lab	292aac7e3d
9:107562557 ABCA1 G>A	9	107562557	107562557	G	A	ABCA1	c.4773+234C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562557G>A	(Likely) benign	1 lab	2930e2e83b
19:1220660 STK11 C>T	19	1220660	1220660	C	T	STK11	c.678C>T	NM_000455.5	NP_000446.1:p.(Asn226=)	NC_000019.9:g.1220660C>T	(Likely) benign	1 lab	29318e3a4c
12:124417973 DNAH10 C>T	12	124417973	124417973	C	T	DNAH10	c.13038C>T	NM_207437.3	NP_997320.2:p.(Asn4346=)	NC_000012.11:g.124417973C>T	(Likely) benign	1 lab	2933c3c2eb
3:143715037 MISSING Ref too long to show for this DEL>G	3	143715037	143952369	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.143715038_143952369del	VUS	1 lab	2933fae31c
1:215963569 USH2A T>A	1	215963569	215963569	T	A	USH2A	c.10014A>T	NM_206933.4	NP_996816.3:p.(Ser3338=)	NC_000001.10:g.215963569T>A	VUS	1 lab	29386329d7
1:237494285 RYR2 A>G	1	237494285	237494285	A	G	RYR2	c.273+3A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237494285A>G	(Likely) benign	1 lab	2938f6d59e
9:35792645 NPR2 A>T	9	35792645	35792645	A	T	NPR2	c.240A>T	NM_003995.4	NP_003986.2:p.(Ala80=)	NC_000009.11:g.35792645A>T	(Likely) benign	1 lab	293bc3808e
19:11223962 LDLR G>A	19	11223962	11223962	G	A	LDLR	c.1195G>A	NM_000527.5	NP_000518.1:p.(Ala399Thr)	NC_000019.9:g.11223962G>A	(Likely) pathogenic	1 lab	293d7e50b9
2:241700676 KIF1A G>A	2	241700676	241700676	G	A	KIF1A	c.2235C>T	NM_001244008.2	NP_001230937.1:p.(Ala745=)	NC_000002.11:g.241700676G>A	(Likely) benign	1 lab	2942ad282d
8:10467248 RP1L1 G>A	8	10467248	10467248	G	A	RP1L1	c.4360C>T	NM_178857.6	NP_849188.4:p.(Pro1454Ser)	NC_000008.10:g.10467248G>A	(Likely) benign	1 lab	2947b6ad43
2:21229735 APOB G>T	2	21229735	21229735	G	T	APOB	c.10005C>A	NM_000384.3	NP_000375.3:p.(Gly3335=)	NC_000002.11:g.21229735G>T	(Likely) benign	1 lab	294e714df0
19:11224061 LDLR C>G	19	11224061	11224061	C	G	LDLR	c.1294C>G	NM_000527.5	NP_000518.1:p.(Leu432Val)	NC_000019.9:g.11224061C>G	VUS	1 lab	294f3c8488
20:45354685 SLC2A10 G>C	20	45354685	45354685	G	C	SLC2A10	c.1010G>C	NM_030777.4	NP_110404.1:p.(Gly337Ala)	NC_000020.10:g.45354685G>C	(Likely) benign	1 lab	29563c52ef
5:178421422 GRM6 C>G	5	178421422	178421422	C	G	GRM6	c.504+20G>C	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178421422C>G	(Likely) benign	1 lab	2959eaec1b
14:76231060 TTLL5 G>A	14	76231060	76231060	G	A	TTLL5	c.1653G>A	NM_015072.5	NP_055887.3:p.(Val551=)	NC_000014.8:g.76231060G>A	(Likely) benign	1 lab	295c800fa3
1:25870264 LDLRAP1 T>A	1	25870264	25870264	T	A	LDLRAP1	c.75T>A	NM_015627.3	NP_056442.2:p.(Gly25=)	NC_000001.10:g.25870264T>A	(Likely) benign	1 lab	295cd30e55
X:69615597 KIF4A A>T	X	69615597	69615597	A	T	KIF4A	c.2309A>T	NM_012310.5	NP_036442.3:p.(Asp770Val)	NC_000023.10:g.69615597A>T	VUS	1 lab	295cd87255
1:236907705 ACTN2 A>G	1	236907705	236907705	A	G	ACTN2	c.1256-221A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236907705A>G	(Likely) benign	1 lab	295d7ed14e
11:1017782 MUC6 C>T	11	1017782	1017782	C	T	MUC6	c.5019G>A	NM_005961.3	NP_005952.2:p.(Leu1673=)	NC_000011.9:g.1017782C>T	(Likely) benign	1 lab	29629005fb
12:432376 KDM5A C>CAAAA	12	432376	432405	C	CAAAA	KDM5A	c.2151-8_2151-5dup	NM_001042603.3	NP_001036068.1:p.?	NC_000012.11:g.432402_432405dup	(Likely) benign	1 lab	296d1ee576
16:1004909 LMF1 T>C	16	1004909	1004909	T	C	LMF1	c.-361-243A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004909T>C	(Likely) benign	1 lab	296d880a78
15:48714192 FBN1 G>T	15	48714192	48714192	G	T	FBN1	c.7527C>A	NM_000138.5	NP_000129.3:p.(Cys2509Ter)	NC_000015.9:g.48714192G>T	(Likely) pathogenic	1 lab	296e9cff2f
8:133935754 TG G>A	8	133935754	133935754	G	A	TG	c.4699+1G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133935754G>A	(Likely) pathogenic	1 lab	2970891d5a
9:113137745 SVEP1 TA>T	9	113137745	113137770	TA	T	SVEP1	c.10505-3del	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113137770del	(Likely) benign	1 lab	297622cd2b
7:91631289 AKAP9 C>T	7	91631289	91631289	C	T	AKAP9	c.2058C>T	NM_005751.5	NP_005742.4:p.(Asp686=)	NC_000007.13:g.91631289C>T	(Likely) benign	1 lab	29779e30e9
4:55946171 KDR G>A	4	55946171	55946171	G	A	KDR	c.4008C>T	NM_002253.3	NP_002244.1:p.(Thr1336=)	NC_000004.11:g.55946171G>A	(Likely) benign	1 lab	2978831c13
3:38629017 SCN5A G>A	3	38629017	38629017	G	A	SCN5A	c.2310C>T	NM_198056.3	NP_932173.1:p.(Ala770=)	NC_000003.11:g.38629017G>A	(Likely) benign	1 lab	2978ab3951
3:186395112 MISSING C>Alt too long to show for this DUP	3	186395112	186415597	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.186395113_186415597dup	VUS	1 lab	2979a163c2
6:65300650 EYS T>A	6	65300650	65300650	T	A	EYS	c.5110A>T	NM_001292009.2	NP_001278938.1:p.(Ile1704Leu)	NC_000006.11:g.65300650T>A	VUS	1 lab	297b239f5c
10:79789200 POLR3A G>C	10	79789200	79789200	G	C	POLR3A	c.-35C>G	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79789200G>C	(Likely) benign	1 lab	297ceef598
2:179518943 TTN C>T	2	179518943	179518943	C	T	TTN	c.31742-1675G>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179518943C>T	(Likely) benign	1 lab	297cf2254c
2:179585004 TTN AT>A	2	179585004	179585007	AT	A	TTN	c.23378-14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585007del	(Likely) benign	1 lab	297d8e3ebb
2:179434795 TTN T>C	2	179434795	179434795	T	C	TTN	c.76064A>G	NM_001267550.2	NP_001254479.2:p.(His25355Arg)	NC_000002.11:g.179434795T>C	VUS	1 lab	297da8a449
8:2949084 CSMD1 G>A	8	2949084	2949084	G	A	CSMD1	c.7239C>T	NM_033225.6	NP_150094.5:p.(Ser2413=)	NC_000008.10:g.2949084G>A	(Likely) benign	1 lab	299b746e91
16:56543959 BBS2 TATC>T	16	56543959	56543964	TATC	T	BBS2	c.535-16_535-14del	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56543962_56543964del	(Likely) benign	1 lab	297ec5cc1b
7:128484900 FLNC C>T	7	128484900	128484900	C	T	FLNC	c.3381C>T	NM_001458.5	NP_001449.3:p.(Gly1127=)	NC_000007.13:g.128484900C>T	VUS	1 lab	297f840b5b
9:107576738 ABCA1 C>T	9	107576738	107576738	C	T	ABCA1	c.3757G>A	NM_005502.4	NP_005493.2:p.(Glu1253Lys)	NC_000009.11:g.107576738C>T	VUS	1 lab	29843dcac7
4:3502047 DOK7 T>G	4	3502047	3502047	T	G	DOK7	c.1610T>G	NM_001301071.2	NP_001288000.1:p.(Val537Gly)	NC_000004.11:g.3502047T>G	(Likely) benign	1 lab	2985e1cd6a
16:17221733 XYLT1 G>A	16	17221733	17221733	G	A	XYLT1	c.2028-15C>T	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17221733G>A	(Likely) benign	1 lab	2986e87004
20:8719994 PLCB1 AG>A	20	8719994	8719995	AG	A	PLCB1	c.2296del	NM_182734.3	NP_877398.1:p.(Ala766ProfsTer11)	NC_000020.10:g.8719995del	(Likely) pathogenic	1 lab	2988058d60
7:138603139 KIAA1549 C>T	7	138603139	138603139	C	T	KIAA1549	c.1233G>A	NM_001164665.2	NP_001158137.1:p.(Pro411=)	NC_000007.13:g.138603139C>T	(Likely) benign	1 lab	298eb5cc90
11:121489619 SORL1 G>A	11	121489619	121489619	G	A	SORL1	c.5724+17G>A	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121489619G>A	(Likely) benign	1 lab	2991b22cc3
4:121738049 PRDM5 T>C	4	121738049	121738049	T	C	PRDM5	c.681A>G	NM_018699.4	NP_061169.2:p.(Leu227=)	NC_000004.11:g.121738049T>C	(Likely) benign	1 lab	2992459741
12:66867962 GRIP1 Ref too long to show for this DEL>A	12	66867962	66885030	Ref too long to show for this DEL	A	GRIP1	c.724+24370_725-8761del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66867964_66885030del	VUS	1 lab	299b5ff814
2:198267481 SF3B1 T>C	2	198267481	198267481	T	C	SF3B1	c.1876A>G	NM_012433.4	NP_036565.2:p.(Asn626Asp)	NC_000002.11:g.198267481T>C	VUS	1 lab	299cbd14a2
2:21260934 APOB G>A	2	21260934	21260934	G	A	APOB	c.433C>T	NM_000384.3	NP_000375.3:p.(Pro145Ser)	NC_000002.11:g.21260934G>A	(Likely) benign	1 lab	299d4d77ca
9:137694795 COL5A1 C>CG	9	137694795	137694796	C	CG	COL5A1	c.3068_3069insG	NM_000093.5	NP_000084.3:p.(Gly1024ArgfsTer2)	NC_000009.11:g.137694795_137694796insG	(Likely) pathogenic	1 lab	29a083e68a
3:87870319 MISSING Ref too long to show for this DEL>C	3	87870319	88793913	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.87870320_88793913del	VUS	1 lab	29a0cb5cb7
2:179548801 TTN C>T	2	179548801	179548801	C	T	TTN	c.32731G>A	NM_001267550.2	NP_001254479.2:p.(Glu10911Lys)	NC_000002.11:g.179548801C>T	(Likely) benign	1 lab	29a17ad89e
1:89523927 GBP1 C>T	1	89523927	89523927	C	T	GBP1	c.632-10G>A	NM_002053.3	NP_002044.2:p.?	NC_000001.10:g.89523927C>T	(Likely) benign	1 lab	29a2a71af9
16:88803982 PIEZO1 C>G	16	88803982	88803982	C	G	PIEZO1	c.1180G>C	NM_001142864.4	NP_001136336.2:p.(Val394Leu)	NC_000016.9:g.88803982C>G	(Likely) benign	1 lab	29a3920d36
14:90866399 CALM1 C>G	14	90866399	90866399	C	G	CALM1	c.4-10C>G	NM_006888.6	NP_008819.1:p.?	NC_000014.8:g.90866399C>G	(Likely) benign	1 lab	29a6a8f1e9
2:238274682 COL6A3 G>C	2	238274682	238274682	G	C	COL6A3	c.5501-4C>G	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238274682G>C	(Likely) benign	1 lab	29a7934849
10:8111500 GATA3 G>A	10	8111500	8111500	G	A	GATA3	c.986G>A	NM_002051.3	NP_002042.1:p.(Arg329Lys)	NC_000010.10:g.8111500G>A	VUS	1 lab	29ad70a418
11:108198353 ATM T>C	11	108198353	108198353	T	C	ATM	c.6976-19T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108198353T>C	(Likely) benign	1 lab	29aea76ab7
15:58830623 LIPC G>C	15	58830623	58830623	G	C	LIPC	c.180G>C	NM_000236.3	NP_000227.2:p.(Gln60His)	NC_000015.9:g.58830623G>C	VUS	1 lab	29afbee699
11:116706563 APOA1 G>A	11	116706563	116706563	G	A	APOA1	c.438C>T	NM_001318021.1	NP_001304950.1:p.(Ser146=)	NC_000011.9:g.116706563G>A	(Likely) benign	1 lab	29b3b6c298
6:112499448 LAMA4 G>A	6	112499448	112499448	G	A	LAMA4	c.1078-14C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112499448G>A	(Likely) benign	1 lab	29b6c1bcc8
2:179514595 TTN G>C	2	179514595	179514595	G	C	TTN	c.32542C>G	NM_133378.4	NP_596869.4:p.(Pro10848Ala)	NC_000002.11:g.179514595G>C	VUS	1 lab	29b7ffaa0e
2:44105045 ABCG8 A>T	2	44105045	44105045	A	T	ABCG8	c.2015A>T	NM_022437.3	NP_071882.1:p.(Asp672Val)	NC_000002.11:g.44105045A>T	(Likely) pathogenic	1 lab	29b8fffa43
9:101909964 TGFBR1 T>C	9	101909964	101909964	T	C	TGFBR1	c.1284T>C	NM_004612.4	NP_004603.1:p.(Tyr428=)	NC_000009.11:g.101909964T>C	(Likely) benign	1 lab	29bbed0e4b
2:21229315 APOB T>C	2	21229315	21229315	T	C	APOB	c.10425A>G	NM_000384.3	NP_000375.3:p.(Gly3475=)	NC_000002.11:g.21229315T>C	(Likely) benign	1 lab	29bce51585
15:58830616 LIPC C>A	15	58830616	58830616	C	A	LIPC	c.173C>A	NM_000236.3	NP_000227.2:p.(Thr58Asn)	NC_000015.9:g.58830616C>A	VUS	1 lab	29beda299e
10:91007339 LIPA C>T	10	91007339	91007339	C	T	LIPA	c.67G>A	NM_000235.4	NP_000226.2:p.(Gly23Arg)	NC_000010.10:g.91007339C>T	(Likely) benign	1 lab	29c396aeaa
2:179400809 TTN G>A	2	179400809	179400809	G	A	TTN	c.100665C>T	NM_001267550.2	NP_001254479.2:p.(Leu33555=)	NC_000002.11:g.179400809G>A	(Likely) benign	1 lab	29c863736f
2:220496824 SLC4A3 C>T	2	220496824	220496824	C	T	SLC4A3	c.1027C>T	NM_201574.3	NP_963868.3:p.(Arg343Trp)	NC_000002.11:g.220496824C>T	VUS	1 lab	29ca8d0364
13:96375599 DNAJC3 A>G	13	96375599	96375599	A	G	DNAJC3	c.297A>G	NM_006260.5	NP_006251.1:p.(Gln99=)	NC_000013.10:g.96375599A>G	(Likely) benign	1 lab	29cd22950b
15:41854922 TYRO3 C>CACCATGTTTTCCTGTGA	15	41854922	41854924	C	CACCATGTTTTCCTGTGA	TYRO3	c.580+7_580+8insCCATGTTTTCCTGTGAA	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41854923_41854924insCCATGTTTTCCTGTGAA	(Likely) benign	1 lab	29cf2abfc7
1:35251545 GJB3 G>C	1	35251545	35251545	G	C	GJB3	c.*369G>C	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251545G>C	(Likely) benign	1 lab	29d22ba4c5
11:119211032 C1QTNF5 T>C	11	119211032	119211032	T	C	C1QTNF5	c.76A>G	NM_015645.5	NP_056460.1:p.(Ser26Gly)	NC_000011.9:g.119211032T>C	VUS	1 lab	29d250609b
12:117909032 KSR2 G>A	12	117909032	117909032	G	A	KSR2	c.2676C>T	NM_173598.6	NP_775869.4:p.(Pro892=)	NC_000012.11:g.117909032G>A	(Likely) benign	1 lab	29d3373372
9:107589134 ABCA1 A>T	9	107589134	107589134	A	T	ABCA1	c.2337+95T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589134A>T	(Likely) benign	1 lab	29d5f42feb
7:128487196 FLNC G>A	7	128487196	128487196	G	A	FLNC	c.4288+237G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487196G>A	(Likely) benign	1 lab	29d71ca9c3
19:50917085 POLD1 G>A	19	50917085	50917085	G	A	POLD1	c.2337G>A	NM_001256849.1	NP_001243778.1:p.(Ala779=)	NC_000019.9:g.50917085G>A	(Likely) benign	1 lab	29d7e50cc6
19:12760898 MAN2B1 T>C	19	12760898	12760898	T	C	MAN2B1	c.2165+20A>G	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12760898T>C	(Likely) benign	1 lab	29d86f7e06
2:44065680 ABCG5 C>T	2	44065680	44065680	C	T	ABCG5	c.139G>A	NM_022436.3	NP_071881.1:p.(Val47Ile)	NC_000002.11:g.44065680C>T	VUS	1 lab	29dae17da2
16:56996288 CETP G>A	16	56996288	56996288	G	A	CETP	c.118+279G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996288G>A	(Likely) benign	1 lab	29dcdd8968
12:27800787 PPFIBP1 G>C	12	27800787	27800787	G	C	PPFIBP1	c.471+12G>C	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27800787G>C	(Likely) benign	1 lab	29ddcb5ba6
2:188975552 MISSING A>Alt too long to show for this DUP	2	188975552	189368467	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.188975554_189368467dup	VUS	1 lab	29de60247b
4:100518714 MTTP T>G	4	100518714	100518714	T	G	MTTP	c.1067+333T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100518714T>G	(Likely) benign	1 lab	29e20bc1f0
17:59034710 BCAS3 Ref too long to show for this DEL>A	17	59034710	59101954	Ref too long to show for this DEL	A	BCAS3	c.1221+9998_1637+8692del	NM_017679.5	NP_060149.3:p.?	NC_000017.10:g.59034711_59101954del	VUS	1 lab	29e22a372e
11:4091386 STIM1 G>A	11	4091386	4091386	G	A	STIM1	c.744G>A	NM_001277961.3	NP_001264890.1:p.(Leu248=)	NC_000011.9:g.4091386G>A	(Likely) benign	1 lab	29e24b0de4
X:27765399 DCAF8L2 AGAG>A	X	27765399	27765446	AGAG	A	DCAF8L2	c.432_434del	NM_001353448.2	NP_001340377.1:p.(Glu147del)	NC_000023.10:g.27765444_27765446del	(Likely) benign	1 lab	29e35eb819
8:144294773 MISSING G>A	8	144294773	144294773	G	A	MISSING				NC_000008.10:g.144294773G>A	(Likely) benign	1 lab	29ebf85436
7:39990450 CDK13 AGCC>A	7	39990450	39990464	AGCC	A	CDK13	c.222_224del	NM_003718.5	NP_003709.3:p.(Ala76del)	NC_000007.13:g.39990462_39990464del	(Likely) benign	1 lab	29ecb5d521
12:125298873 SCARB1 G>A	12	125298873	125298873	G	A	SCARB1	c.505C>T	NM_005505.5	NP_005496.4:p.(Arg169Cys)	NC_000012.11:g.125298873G>A	VUS	1 lab	29ecf3642d
16:984245 LMF1 G>C	16	984245	984245	G	C	LMF1	c.186C>G	NM_001352019.2	NP_001338948.1:p.(Phe62Leu)	NC_000016.9:g.984245G>C	VUS	1 lab	29ed004b84
3:58117724 FLNB G>A	3	58117724	58117724	G	A	FLNB	c.4461G>A	NM_001164317.2	NP_001157789.1:p.(Pro1487=)	NC_000003.11:g.58117724G>A	(Likely) benign	1 lab	29edc5d90f
2:202566619 ALS2 G>A	2	202566619	202566619	G	A	ALS2	c.4936-7C>T	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202566619G>A	(Likely) benign	1 lab	29ee03be93
15:23892101 MAGEL2 A>G	15	23892101	23892101	A	G	MAGEL2	c.789T>C	NM_019066.5	NP_061939.3:p.(Pro263=)	NC_000015.9:g.23892101A>G	(Likely) benign	1 lab	29f002a537
11:116661977 APOA5 C>A	11	116661977	116661977	C	A	APOA5	c.162-194G>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116661977C>A	VUS	1 lab	29f06e8ce2
4:100511015 MTTP G>A	4	100511015	100511015	G	A	MTTP	c.501+108G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100511015G>A	(Likely) benign	1 lab	2a07cd2ae2
8:105102580 RIMS2 Ref too long to show for this DEL>A	8	105102580	105144763	Ref too long to show for this DEL	A	RIMS2	c.3694-3118_3867-16072del	NM_001348484.3	NP_001335413.1:p.?	NC_000008.10:g.105102581_105144763del	VUS	1 lab	2a08017e2d
2:25469628 DNMT3A C>T	2	25469628	25469628	C	T	DNMT3A	c.1140G>A	NM_175629.2	NP_783328.1:p.(Ala380=)	NC_000002.11:g.25469628C>T	(Likely) benign	1 lab	2a0830b5f2
11:47358451 MYBPC3 G>T	11	47358451	47358451	G	T	MYBPC3	c.2602+491C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358451G>T	(Likely) benign	1 lab	2a089cd884
19:45409183 APOE A>C	19	45409183	45409183	A	C	APOE	c.55+3A>C	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409183A>C	VUS	1 lab	2a0a5c65c5
16:30495499 ITGAL G>A	16	30495499	30495499	G	A	ITGAL	c.921G>A	NM_002209.3	NP_002200.2:p.(Ala307=)	NC_000016.9:g.30495499G>A	(Likely) benign	1 lab	2a0a75df10
6:70993514 COL9A1 G>A	6	70993514	70993514	G	A	COL9A1	c.706C>T	NM_001851.6	NP_001842.3:p.(Gln236Ter)	NC_000006.11:g.70993514G>A	(Likely) pathogenic	1 lab	2a0c7f107d
4:125592869 ANKRD50 G>A	4	125592869	125592869	G	A	ANKRD50	c.1563C>T	NM_020337.3	NP_065070.1:p.(Ala521=)	NC_000004.11:g.125592869G>A	(Likely) benign	1 lab	2a0f1beeb7
5:228464 SDHA CTACTT>C	5	228464	228471	CTACTT	C	SDHA	c.770+19_770+23del	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.228467_228471del	(Likely) benign	1 lab	2a13b657f8
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-24_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844573_100844594dup	(Likely) benign	1 lab	2a1640b464
2:219646904 CYP27A1 C>G	2	219646904	219646904	C	G	CYP27A1	c.-2C>G	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646904C>G	VUS	1 lab	2a16f0d795
11:31811460 PAX6 C>CTTTTTT	11	31811460	31811483	C	CTTTTTT	PAX6	c.1260_1261insAAAAAA	NM_000280.5	NP_000271.1:p.(Arg420_Leu421insLysLys)	NC_000011.9:g.31811478_31811483dup	(Likely) benign	1 lab	2a1902443c
5:16475209 RETREG1 G>C	5	16475209	16475209	G	C	RETREG1	c.1135C>G	NM_001034850.3	NP_001030022.1:p.(Gln379Glu)	NC_000005.9:g.16475209G>C	(Likely) benign	1 lab	2a2203476c
19:12918315 MISSING A>Alt too long to show for this DUP	19	12918315	13153116	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.12918316_13153116dup	(Likely) pathogenic	1 lab	2a2c1114ce
13:25671700 PABPC3 T>C	13	25671700	25671700	T	C	PABPC3	c.1364T>C	NM_030979.3	NP_112241.2:p.(Val455Ala)	NC_000013.10:g.25671700T>C	(Likely) benign	1 lab	2a2dd0a07f
1:216419926 USH2A C>T	1	216419926	216419926	C	T	USH2A	c.2809+1G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216419926C>T	(Likely) pathogenic	1 lab	2a30db555e
11:119216835 MFRP G>C	11	119216835	119216835	G	C	MFRP	c.192C>G	NM_031433.4	NP_113621.1:p.(Arg64=)	NC_000011.9:g.119216835G>C	(Likely) benign	1 lab	2a33baf286
4:55573316 KIT C>T	4	55573316	55573316	C	T	KIT	c.978C>T	NM_000222.3	NP_000213.1:p.(Asn326=)	NC_000004.11:g.55573316C>T	(Likely) benign	1 lab	2a33df6aff
2:179391960 TTN C>T	2	179391960	179391960	C	T	TTN	c.107755G>A	NM_001267550.2	NP_001254479.2:p.(Ala35919Thr)	NC_000002.11:g.179391960C>T	VUS	1 lab	2a345c8cab
11:18320532 HPS5 G>A	11	18320532	18320532	G	A	HPS5	c.986-15C>T	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18320532G>A	(Likely) benign	1 lab	2a34b60c7c
18:3457606 TGIF1 C>T	18	3457606	3457606	C	T	TGIF1	c.529C>T	NM_173207.4	NP_775299.1:p.(Pro177Ser)	NC_000018.9:g.3457606C>T	(Likely) benign	1 lab	2a362e5b7d
1:94502327 ABCA4 C>T	1	94502327	94502327	C	T	ABCA4	c.3831G>A	NM_000350.3	NP_000341.2:p.(Thr1277=)	NC_000001.10:g.94502327C>T	(Likely) benign	1 lab	2a37b414d6
15:23889636 MAGEL2 T>A	15	23889636	23889636	T	A	MAGEL2	c.3254A>T	NM_019066.5	NP_061939.3:p.(His1085Leu)	NC_000015.9:g.23889636T>A	VUS	1 lab	2a388a7656
8:19813269 LPL C>G	8	19813269	19813269	C	G	LPL	c.776-83C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813269C>G	(Likely) benign	1 lab	2a41543b3c
2:202503751 TMEM237 G>A	2	202503751	202503751	G	A	TMEM237	c.73C>T	NM_152388.4	NP_689601.2:p.(Arg25Cys)	NC_000002.11:g.202503751G>A	VUS	1 lab	2a4507ddaf
1:66102610 LEPR C>CT	1	66102610	66102614	C	CT	LEPR	c.3414dup	NM_002303.6	NP_002294.2:p.(Ala1139CysfsTer16)	NC_000001.10:g.66102614dup	VUS	1 lab	2a4758823e
19:11227534 LDLR G>A	19	11227534	11227534	G	A	LDLR	c.1706-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227534G>A	(Likely) pathogenic	1 lab	2a4877f07e
20:3897553 PANK2 A>AT	20	3897553	3897561	A	AT	PANK2	c.1413-13dup	NM_153638.4	NP_705902.2:p.?	NC_000020.10:g.3897561dup	(Likely) benign	1 lab	2a4cbe365b
11:119217067 C1QTNF5 A>G	11	119217067	119217067	A	G	C1QTNF5	c.-2565T>C	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119217067A>G	(Likely) benign	1 lab	2a4e9e2a40
19:11224251 LDLR A>T	19	11224251	11224251	A	T	LDLR	c.1399A>T	NM_000527.5	NP_000518.1:p.(Thr467Ser)	NC_000019.9:g.11224251A>T	VUS	1 lab	2a5296e9f0
5:156667153 ITK T>C	5	156667153	156667153	T	C	ITK	c.933T>C	NM_005546.4	NP_005537.3:p.(Tyr311=)	NC_000005.9:g.156667153T>C	(Likely) benign	1 lab	2a53223559
7:128487887 FLNC G>A	7	128487887	128487887	G	A	FLNC	c.4425G>A	NM_001458.5	NP_001449.3:p.(Ala1475=)	NC_000007.13:g.128487887G>A	(Likely) benign	1 lab	2a539f3711
7:100420297 EPHB4 CG>C	7	100420297	100420304	CG	C	EPHB4	c.412-9del	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100420304del	(Likely) benign	1 lab	2a54e63f0b
13:95924583 MISSING C>Alt too long to show for this DUP	13	95924583	96154706	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.95924584_96154706dup	VUS	1 lab	2a56e27912
9:136219604 SURF1 T>C	9	136219604	136219604	T	C	SURF1	c.533A>G	NM_003172.4	NP_003163.1:p.(Asn178Ser)	NC_000009.11:g.136219604T>C	VUS	1 lab	2a58663d16
11:45613230 MISSING C>Alt too long to show for this DUP	11	45613230	45720842	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.45613231_45720842dup	VUS	1 lab	2a58689484
10:75802854 VCL CTG>C	10	75802854	75802857	CTG	C	VCL	c.184_185del	NM_014000.3	NP_054706.1:p.(Val62SerfsTer4)	NC_000010.10:g.75802856_75802857del	VUS	1 lab	2a6543384b
6:70972933 COL9A1 A>T	6	70972933	70972933	A	T	COL9A1	c.1395+14T>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70972933A>T	(Likely) benign	1 lab	2a6603fa71
11:1017956 MUC6 G>A	11	1017956	1017956	G	A	MUC6	c.4845C>T	NM_005961.3	NP_005952.2:p.(His1615=)	NC_000011.9:g.1017956G>A	(Likely) benign	1 lab	2a699b9d96
1:201335970 TNNT2 G>T	1	201335970	201335970	G	T	TNNT2	c.199C>A	NM_001276347.2	NP_001263276.1:p.(Pro67Thr)	NC_000001.10:g.201335970G>T	VUS	1 lab	2a6a9f2e7a
18:47113171 LIPG C>T	18	47113171	47113171	C	T	LIPG	c.1432C>T	NM_006033.4	NP_006024.1:p.(Leu478Phe)	NC_000018.9:g.47113171C>T	VUS	1 lab	2a6df801f9
6:32489745 HLA-DRB5 CGG>C	6	32489745	32489747	CGG	C	HLA-DRB5	c.305_306del	NM_002125.4	NP_002116.2:p.(Ala102GlyfsTer14)	NC_000006.11:g.32489746_32489747del	(Likely) benign	1 lab	2a71151358
5:32784924 NPR3 A>G	5	32784924	32784924	A	G	NPR3	c.1449A>G	NM_001204375.2	NP_001191304.1:p.(Ala483=)	NC_000005.9:g.32784924A>G	(Likely) benign	1 lab	2a73058875
3:38662351 SCN5A A>C	3	38662351	38662351	A	C	SCN5A	c.594T>G	NM_198056.3	NP_932173.1:p.(Phe198Leu)	NC_000003.11:g.38662351A>C	VUS	1 lab	2a7306e339
19:11221875 LDLR A>G	19	11221875	11221875	A	G	LDLR	c.1061-315A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221875A>G	(Likely) benign	1 lab	2a730d0407
15:73635711 HCN4 G>A	15	73635711	73635711	G	A	HCN4	c.1209+15C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73635711G>A	(Likely) benign	1 lab	2a74e2a729
10:64573322 EGR2 C>T	10	64573322	64573322	C	T	EGR2	c.1076G>A	NM_000399.5	NP_000390.2:p.(Arg359Gln)	NC_000010.10:g.64573322C>T	(Likely) pathogenic	1 lab	2a75d0c0f4
1:237730008 RYR2 G>A	1	237730008	237730008	G	A	RYR2	c.3356G>A	NM_001035.3	NP_001026.2:p.(Arg1119His)	NC_000001.10:g.237730008G>A	VUS	1 lab	2a77f3554a
X:8433540 VCX3B G>A	X	8433540	8433540	G	A	VCX3B	c.49G>A	NM_001001888.4	NP_001001888.3:p.(Ala17Thr)	NC_000023.10:g.8433540G>A	(Likely) benign	1 lab	2a78448c37
X:100511236 DRP2 G>A	X	100511236	100511236	G	A	DRP2	c.2376G>A	NM_001939.3	NP_001930.2:p.(Leu792=)	NC_000023.10:g.100511236G>A	(Likely) benign	1 lab	2a7a1bc910
6:56494240 DST T>C	6	56494240	56494240	T	C	DST	c.4184A>G	NM_001144769.5	NP_001138241.1:p.(Gln1395Arg)	NC_000006.11:g.56494240T>C	VUS	1 lab	2a7cf0da99
17:5118133 SCIMP T>TA	17	5118133	5118157	T	TA	SCIMP	c.283+86dup	NM_207103.3	NP_996986.1:p.?	NC_000017.10:g.5118157dup	(Likely) benign	1 lab	2a7f09194d
8:94776092 TMEM67 A>T	8	94776092	94776092	A	T	TMEM67	c.429A>T	NM_153704.6	NP_714915.3:p.(Thr143=)	NC_000008.10:g.94776092A>T	(Likely) benign	1 lab	2a84c472ba
20:61448912 COL9A3 G>A	20	61448912	61448912	G	A	COL9A3	c.79-7G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61448912G>A	(Likely) benign	1 lab	2a87320a80
3:180705961 DNAJC19 C>A	3	180705961	180705961	C	A	DNAJC19	c.55+5G>T	NM_145261.4	NP_660304.1:p.?	NC_000003.11:g.180705961C>A	VUS	1 lab	2a884649cf
Y:16749555 NLGN4Y A>Alt too long to show for this DUP	Y	16749555	16830204	A	Alt too long to show for this DUP	NLGN4Y	c.472+15086_473-1135dup	NM_001365588.1	NP_001352517.1:p.?	NC_000024.9:g.16749557_16830204dup	(Likely) pathogenic	1 lab	2a89661f4a
8:19796863 LPL C>T	8	19796863	19796863	C	T	LPL	c.-89C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796863C>T	VUS	1 lab	2a8cbe925d
20:56228304 PMEPA1 G>A	20	56228304	56228304	G	A	PMEPA1	c.265-162C>T	NM_020182.5	NP_064567.2:p.?	NC_000020.10:g.56228304G>A	(Likely) benign	1 lab	2a8cbf9e6a
X:135956506 RBMX C>G	X	135956506	135956506	C	G	RBMX	c.971G>C	NM_002139.4	NP_002130.2:p.(Arg324Pro)	NC_000023.10:g.135956506C>G	(Likely) benign	1 lab	2a8e3e3479
19:11230786 LDLR G>A	19	11230786	11230786	G	A	LDLR	c.1864G>A	NM_000527.5	NP_000518.1:p.(Asp622Asn)	NC_000019.9:g.11230786G>A	(Likely) pathogenic	1 lab	2a923db4dd
12:60174750 MISSING G>Alt too long to show for this DUP	12	60174750	60201596	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.60174751_60201596dup	VUS	1 lab	2a946c887d
3:186554388 MISSING Ref too long to show for this DEL>A	3	186554388	186573218	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.186554389_186573218del	VUS	1 lab	2a948d4bab
11:66063126 TMEM151A AC>A	11	66063126	66063132	AC	A	TMEM151A	c.*8del	NM_153266.4	NP_694998.1:p.?	NC_000011.9:g.66063132del	(Likely) benign	1 lab	2a94b0e295
6:56504041 DST C>T	6	56504041	56504041	C	T	DST	c.2964+16G>A	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56504041C>T	(Likely) benign	1 lab	2a95dcffda
8:94784801 TMEM67 A>G	8	94784801	94784801	A	G	TMEM67	c.652-16A>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94784801A>G	(Likely) benign	1 lab	2a98efc524
10:88428478 LDB3 C>T	10	88428478	88428478	C	T	LDB3	c.30C>T	NM_001171610.2	NP_001165081.1:p.(Pro10=)	NC_000010.10:g.88428478C>T	(Likely) benign	1 lab	2a993e56b1
7:21938973 DNAH11 C>T	7	21938973	21938973	C	T	DNAH11	c.13069C>T	NM_001277115.2	NP_001264044.1:p.(Arg4357Ter)	NC_000007.13:g.21938973C>T	(Likely) pathogenic	1 lab	2a9b0de2f0
5:178700085 ADAMTS2 G>A	5	178700085	178700085	G	A	ADAMTS2	c.535-20C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178700085G>A	(Likely) benign	1 lab	2a9ced7288
12:48381439 COL2A1 G>A	12	48381439	48381439	G	A	COL2A1	c.1176C>T	NM_001844.5	NP_001835.3:p.(Arg392=)	NC_000012.11:g.48381439G>A	(Likely) benign	1 lab	2a9f14cb70
16:28878202 SH2B1 C>A	16	28878202	28878202	C	A	SH2B1	c.787C>A	NM_001145795.2	NP_001139267.1:p.(Pro263Thr)	NC_000016.9:g.28878202C>A	(Likely) benign	1 lab	2aa06affd5
18:47107769 LIPG T>C	18	47107769	47107769	T	C	LIPG	c.794-16T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47107769T>C	(Likely) benign	1 lab	2aa0d17f1b
14:105174792 INF2 G>A	14	105174792	105174792	G	A	INF2	c.1755G>A	NM_022489.4	NP_071934.3:p.(Ala585=)	NC_000014.8:g.105174792G>A	(Likely) benign	1 lab	2aa1dd2021
18:45375858 SMAD2 GTA>G	18	45375858	45375880	GTA	G	SMAD2	c.785-802_785-801del	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375879_45375880del	(Likely) benign	1 lab	2aa4955405
9:107588077 ABCA1 A>G	9	107588077	107588077	A	G	ABCA1	c.2429T>C	NM_005502.4	NP_005493.2:p.(Phe810Ser)	NC_000009.11:g.107588077A>G	VUS	1 lab	2aa5154971
2:73799927 ALMS1 A>C	2	73799927	73799927	A	C	ALMS1	c.10926A>C	NM_015120.4	NP_055935.4:p.(Thr3642=)	NC_000002.11:g.73799927A>C	(Likely) benign	1 lab	2aa8579012
11:108202587 ATM A>C	11	108202587	108202587	A	C	ATM	c.7630-19A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202587A>C	VUS	1 lab	2aa9a7cfc9
1:23237085 EPHB2 G>GCCCTGCCCCAGCCAGGCCCTGC	1	23237085	23237111	G	GCCCTGCCCCAGCCAGGCCCTGC	EPHB2	c.2696+22_2696+43dup	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23237090_23237111dup	(Likely) benign	1 lab	2aab683b5f
19:10270454 DNMT1 C>T	19	10270454	10270454	C	T	DNMT1	c.1171-11G>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10270454C>T	(Likely) benign	1 lab	2aadf86498
2:179407426 TTN G>A	2	179407426	179407426	G	A	TTN	c.89451C>T	NM_133378.4	NP_596869.4:p.(Thr29817=)	NC_000002.11:g.179407426G>A	(Likely) benign	1 lab	2ab087a21d
2:21234277 APOB C>T	2	21234277	21234277	C	T	APOB	c.5463G>A	NM_000384.3	NP_000375.3:p.(Leu1821=)	NC_000002.11:g.21234277C>T	(Likely) benign	1 lab	2ab120dce0
7:5567661 ACTB GGGCAGTGATCTCCTTCTGCATCCTGTC>G	7	5567661	5567692	GGGCAGTGATCTCCTTCTGCATCCTGTC	G	ACTB	c.931_957del	NM_001101.5	NP_001092.1:p.(Asp311_Ala319del)	NC_000007.13:g.5567666_5567692del	(Likely) pathogenic	1 lab	2ab2849efd
7:110360660 IMMP2L Ref too long to show for this DEL>A	7	110360660	110959169	Ref too long to show for this DEL	A	IMMP2L	c.239+168125_409-56884del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110360661_110959169del	(Likely) pathogenic	1 lab	2ab944b5b0
2:179397372 TTN T>C	2	179397372	179397372	T	C	TTN	c.103970A>G	NM_001267550.2	NP_001254479.2:p.(Asp34657Gly)	NC_000002.11:g.179397372T>C	VUS	1 lab	2abc4ccc2b
5:41909851 RIMOC1 A>T	5	41909851	41909851	A	T	RIMOC1	c.211A>T	NM_175921.6	NP_787117.3:p.(Ile71Phe)	NC_000005.9:g.41909851A>T	(Likely) benign	1 lab	2abdcb613d
2:189861175 COL3A1 C>T	2	189861175	189861175	C	T	COL3A1	c.1714C>T	NM_000090.4	NP_000081.2:p.(Arg572Ter)	NC_000002.11:g.189861175C>T	(Likely) pathogenic	1 lab	2ac1bd9c86
18:47101846 LIPG G>T	18	47101846	47101846	G	T	LIPG	c.679G>T	NM_006033.4	NP_006024.1:p.(Gly227Cys)	NC_000018.9:g.47101846G>T	(Likely) pathogenic	1 lab	2ac499fc01
2:179499951 TTN A>C	2	179499951	179499951	A	C	TTN	c.41965T>G	NM_001267550.2	NP_001254479.2:p.(Ser13989Ala)	NC_000002.11:g.179499951A>C	VUS	1 lab	2ac4f7473a
1:197237551 CRB1 T>C	1	197237551	197237551	T	C	CRB1	c.9T>C	NM_201253.3	NP_957705.1:p.(Leu3=)	NC_000001.10:g.197237551T>C	(Likely) benign	1 lab	2ac5cdcb52
4:114279924 ANK2 C>T	4	114279924	114279924	C	T	ANK2	c.10150C>T	NM_001148.6	NP_001139.3:p.(Pro3384Ser)	NC_000004.11:g.114279924C>T	VUS	1 lab	2acafb2848
2:25065116 ADCY3 G>A	2	25065116	25065116	G	A	ADCY3	c.956+7C>T	NM_001320613.2	NP_001307542.1:p.?	NC_000002.11:g.25065116G>A	(Likely) benign	1 lab	2acc09b607
19:11217307 LDLR A>C	19	11217307	11217307	A	C	LDLR	c.761A>C	NM_000527.5	NP_000518.1:p.(Gln254Pro)	NC_000019.9:g.11217307A>C	(Likely) pathogenic	1 lab	2acdb4516e
15:43678542 TUBGCP4 C>A	15	43678542	43678542	C	A	TUBGCP4	c.1014+14C>A	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43678542C>A	(Likely) benign	1 lab	2ad0c83f80
19:45411089 APOE A>G	19	45411089	45411089	A	G	APOE	c.194A>G	NM_001302688.2	NP_001289617.1:p.(Gln65Arg)	NC_000019.9:g.45411089A>G	VUS	1 lab	2ad3d718bd
16:46763048 MYLK3 T>C	16	46763048	46763048	T	C	MYLK3	c.1663-3A>G	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46763048T>C	VUS	1 lab	2ad4ca3104
5:37016137 NIPBL C>G	5	37016137	37016137	C	G	NIPBL	c.4644-3C>G	NM_015384.5	NP_056199.2:p.?	NC_000005.9:g.37016137C>G	(Likely) pathogenic	1 lab	2ad53c9544
6:146755255 GRM1 C>T	6	146755255	146755255	C	T	GRM1	c.2908C>T	NM_001278064.2	NP_001264993.1:p.(Pro970Ser)	NC_000006.11:g.146755255C>T	VUS	1 lab	2ad735b28a
10:71664683 COL13A1 C>T	10	71664683	71664683	C	T	COL13A1	c.889-6C>T	NM_001130103.2	NP_001123575.1:p.?	NC_000010.10:g.71664683C>T	(Likely) benign	1 lab	2ade1392ac
12:32755259 FGD4 G>A	12	32755259	32755259	G	A	FGD4	c.-59+8G>A	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32755259G>A	(Likely) benign	1 lab	2adf4262d5
1:74716352 TNNI3K T>G	1	74716352	74716352	T	G	TNNI3K	c.236-4T>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74716352T>G	(Likely) benign	1 lab	2ae002369c
X:153599369 FLNA T>C	X	153599369	153599369	T	C	FLNA	c.245A>G	NM_001110556.2	NP_001104026.1:p.(Glu82Gly)	NC_000023.10:g.153599369T>C	(Likely) pathogenic	1 lab	2ae41ad9a7
2:21230787 APOB T>C	2	21230787	21230787	T	C	APOB	c.8953A>G	NM_000384.3	NP_000375.3:p.(Lys2985Glu)	NC_000002.11:g.21230787T>C	VUS	1 lab	2ae67ff824
15:92688957 MISSING A>Alt too long to show for this DUP	15	92688957	93182422	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.92688958_93182422dup	VUS	1 lab	2aeaa944bc
1:6535048 PLEKHG5 A>G	1	6535048	6535048	A	G	PLEKHG5	c.302+59T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6535048A>G	(Likely) benign	1 lab	2af2a1d98f
16:89882407 FANCA G>A	16	89882407	89882407	G	A	FANCA	c.80-13C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89882407G>A	(Likely) benign	1 lab	2af2c3e4f6
10:112595647 RBM20 G>A	10	112595647	112595647	G	A	RBM20	c.3595G>A	NM_001134363.3	NP_001127835.2:p.(Glu1199Lys)	NC_000010.10:g.112595647G>A	VUS	1 lab	2af310eb62
2:44079401 ABCG8 G>A	2	44079401	44079401	G	A	ABCG8	c.562-92G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079401G>A	(Likely) benign	1 lab	2b7836cc62
10:50724813 ERCC6 T>C	10	50724813	50724813	T	C	ERCC6	c.1752A>G	NM_001277058.2	NP_001263987.1:p.(Lys584=)	NC_000010.10:g.50724813T>C	(Likely) benign	1 lab	2af311e849
2:166243470 SCN2A A>G	2	166243470	166243470	A	G	SCN2A	c.4766A>G	NM_021007.3	NP_066287.2:p.(Tyr1589Cys)	NC_000002.11:g.166243470A>G	(Likely) pathogenic	1 lab	2af53df076
1:152278809 FLG G>A	1	152278809	152278809	G	A	FLG	c.8553C>T	NM_002016.2	NP_002007.1:p.(Ser2851=)	NC_000001.10:g.152278809G>A	(Likely) benign	1 lab	2af668dcde
X:154826472 MISSING T>Alt too long to show for this DUP	X	154826472	154948160	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154826473_154948160dup	VUS	1 lab	2af8cef6da
12:33031692 PKP2 C>T	12	33031692	33031692	C	T	PKP2	c.336+162G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031692C>T	(Likely) benign	1 lab	2afbbbfad1
19:1221203 STK11 G>A	19	1221203	1221203	G	A	STK11	c.735-9G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1221203G>A	(Likely) benign	1 lab	2afe76824e
5:149497243 PDGFRB C>A	5	149497243	149497243	C	A	PDGFRB	c.3075G>T	NM_002609.4	NP_002600.1:p.(Leu1025=)	NC_000005.9:g.149497243C>A	(Likely) benign	1 lab	2aff31352d
18:34297819 FHOD3 ATGCAGG>A	18	34297819	34297827	ATGCAGG	A	FHOD3	c.2561_2566del	NM_001281740.3	NP_001268669.1:p.(Ala854_Gly855del)	NC_000018.9:g.34297822_34297827del	(Likely) benign	1 lab	2b03b2cc27
17:19702892 ULK2 C>CAA	17	19702892	19702910	C	CAA	ULK2	c.1442-6_1442-5dup	NM_014683.4	NP_055498.3:p.?	NC_000017.10:g.19702909_19702910dup	(Likely) benign	1 lab	2b04418438
16:49672375 ZNF423 C>T	16	49672375	49672375	C	T	ZNF423	c.508G>A	NM_001271620.2	NP_001258549.1:p.(Gly170Ser)	NC_000016.9:g.49672375C>T	(Likely) benign	1 lab	2b05962db0
19:11223963 LDLR C>A	19	11223963	11223963	C	A	LDLR	c.1196C>A	NM_000527.5	NP_000518.1:p.(Ala399Asp)	NC_000019.9:g.11223963C>A	(Likely) pathogenic	1 lab	2b07d2726b
9:27183598 TEK C>T	9	27183598	27183598	C	T	TEK	c.1172C>T	NM_000459.5	NP_000450.3:p.(Thr391Ile)	NC_000009.11:g.27183598C>T	(Likely) benign	1 lab	2b089b6b25
2:29451793 ALK A>C	2	29451793	29451793	A	C	ALK	c.2772T>G	NM_004304.5	NP_004295.2:p.(Gly924=)	NC_000002.11:g.29451793A>C	(Likely) benign	1 lab	2b08be991c
2:219677339 CYP27A1 C>T	2	219677339	219677339	C	T	CYP27A1	c.711C>T	NM_000784.4	NP_000775.1:p.(Thr237=)	NC_000002.11:g.219677339C>T	(Likely) benign	1 lab	2b090129b2
11:107726479 MISSING A>Alt too long to show for this DUP	11	107726479	107867694	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.107726480_107867694dup	VUS	1 lab	2b09bcf997
1:211654767 RD3 C>A	1	211654767	211654767	C	A	RD3	c.-10G>T	NM_183059.3	NP_898882.1:p.?	NC_000001.10:g.211654767C>A	(Likely) benign	1 lab	2b0b50d14e
2:21234233 APOB A>C	2	21234233	21234233	A	C	APOB	c.5507T>G	NM_000384.3	NP_000375.3:p.(Ile1836Arg)	NC_000002.11:g.21234233A>C	VUS	1 lab	2b0f454214
1:3329219 PRDM16 C>T	1	3329219	3329219	C	T	PRDM16	c.2458C>T	NM_022114.4	NP_071397.3:p.(Arg820Trp)	NC_000001.10:g.3329219C>T	VUS	1 lab	2b0f768abb
11:116701474 APOC3 C>A	11	116701474	116701474	C	A	APOC3	c.56-15C>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701474C>A	(Likely) benign	1 lab	2b10bd95e8
9:137620175 COL5A1 G>C	9	137620175	137620175	G	C	COL5A1	c.787-341G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620175G>C	(Likely) benign	1 lab	2b11eff36d
10:88992688 NUTM2A G>A	10	88992688	88992688	G	A	NUTM2A	c.1680G>A	NM_001099338.2	NP_001092808.1:p.(Pro560=)	NC_000010.10:g.88992688G>A	(Likely) benign	1 lab	2b1d1d9942
2:179612443 TTN G>T	2	179612443	179612443	G	T	TTN	c.10360+5408C>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179612443G>T	(Likely) benign	1 lab	2b2039c617
8:59409581 CYP7A1 C>T	8	59409581	59409581	C	T	CYP7A1	c.490G>A	NM_000780.4	NP_000771.2:p.(Ala164Thr)	NC_000008.10:g.59409581C>T	VUS	1 lab	2b221316d4
2:44050062 ABCG5 C>T	2	44050062	44050062	C	T	ABCG5	c.1337G>A	NM_022436.3	NP_071881.1:p.(Arg446Gln)	NC_000002.11:g.44050062C>T	(Likely) pathogenic	1 lab	2b221f8a70
16:984811 LMF1 A>C	16	984811	984811	A	C	LMF1	c.-51-557T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.984811A>C	(Likely) benign	1 lab	2b24335cfd
17:74469779 RHBDF2 T>C	17	74469779	74469779	T	C	RHBDF2	c.1771A>G	NM_024599.5	NP_078875.4:p.(Met591Val)	NC_000017.10:g.74469779T>C	(Likely) benign	1 lab	2b28be4b3e
12:8807965 MFAP5 T>G	12	8807965	8807965	T	G	MFAP5	c.172+46A>C	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8807965T>G	(Likely) benign	1 lab	2b29400771
X:31792097 DMD C>T	X	31792097	31792097	C	T	DMD	c.7522G>A	NM_004006.3	NP_003997.2:p.(Glu2508Lys)	NC_000023.10:g.31792097C>T	VUS	1 lab	2b2a246e05
4:141928852 MISSING Ref too long to show for this DEL>T	4	141928852	142104304	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.141928854_142104304del	VUS	1 lab	2b2c41d570
10:106004448 MISSING C>Alt too long to show for this DUP	10	106004448	106201497	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.106004449_106201497dup	VUS	1 lab	2b3052779a
12:124270467 DNAH10 C>T	12	124270467	124270467	C	T	DNAH10	c.1222C>T	NM_207437.3	NP_997320.2:p.(Leu408=)	NC_000012.11:g.124270467C>T	(Likely) benign	1 lab	2b30c48ab5
2:179419765 TTN CA>C	2	179419765	179419766	CA	C	TTN	c.88420del	NM_001267550.2	NP_001254479.2:p.(Trp29474GlyfsTer40)	NC_000002.11:g.179419766del	(Likely) pathogenic	1 lab	2b31b439bb
12:125296500 SCARB1 G>A	12	125296500	125296500	G	A	SCARB1	c.642C>T	NM_001367981.1	NP_001354910.1:p.(Ser214=)	NC_000012.11:g.125296500G>A	(Likely) benign	1 lab	2b3227e7da
17:36628191 ARHGAP23 G>A	17	36628191	36628191	G	A	ARHGAP23	c.2062G>A	NM_001199417.2	NP_001186346.1:p.(Asp688Asn)	NC_000017.10:g.36628191G>A	(Likely) benign	1 lab	2b367c744a
X:150157485 MISSING Ref too long to show for this DEL>A	X	150157485	151816135	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.150157487_151816135del	(Likely) pathogenic	1 lab	2b39d9b152
1:2237297 SKI T>C	1	2237297	2237297	T	C	SKI	c.1768-162T>C	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2237297T>C	(Likely) benign	1 lab	2b3bceb8ce
7:128470752 FLNC A>G	7	128470752	128470752	A	G	FLNC	c.61A>G	NM_001458.5	NP_001449.3:p.(Met21Val)	NC_000007.13:g.128470752A>G	VUS	1 lab	2b4494cb72
9:137642847 COL5A1 A>C	9	137642847	137642847	A	C	COL5A1	c.1662+119A>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137642847A>C	(Likely) benign	1 lab	2b47218562
22:50658698 TUBGCP6 T>A	22	50658698	50658698	T	A	TUBGCP6	c.4090A>T	NM_020461.4	NP_065194.3:p.(Ser1364Cys)	NC_000022.10:g.50658698T>A	(Likely) benign	1 lab	2b4ac632ef
X:135958696 RBMX T>C	X	135958696	135958696	T	C	RBMX	c.507A>G	NM_002139.4	NP_002130.2:p.(Gly169=)	NC_000023.10:g.135958696T>C	(Likely) benign	1 lab	2b4cb3e52d
3:50357618 HYAL2 T>TGGCACACCACCATGC	3	50357618	50357633	T	TGGCACACCACCATGC	HYAL2	c.288_302dup	NM_033158.5	NP_149348.2:p.(His97_Pro101dup)	NC_000003.11:g.50357619_50357633dup	VUS	1 lab	2b4eb73920
17:1578954 PRPF8 G>C	17	1578954	1578954	G	C	PRPF8	c.2832C>G	NM_006445.4	NP_006436.3:p.(Asp944Glu)	NC_000017.10:g.1578954G>C	VUS	1 lab	2b52a5aa11
6:56504842 DST C>T	6	56504842	56504842	C	T	DST	c.2405G>A	NM_001144769.5	NP_001138241.1:p.(Arg802His)	NC_000006.11:g.56504842C>T	VUS	1 lab	2b52b9428a
19:11222287 LDLR C>G	19	11222287	11222287	C	G	LDLR	c.1158C>G	NM_000527.5	NP_000518.1:p.(Asp386Glu)	NC_000019.9:g.11222287C>G	VUS	1 lab	2b58d57b6e
6:70281550 MISSING A>Alt too long to show for this DUP	6	70281550	70709593	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.70281553_70709593dup	VUS	1 lab	2b5cc107c4
21:34762731 MISSING T>Alt too long to show for this DUP	21	34762731	35077107	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.34762732_35077107dup	VUS	1 lab	2b5e06af8b
11:116706908 APOA1 G>A	11	116706908	116706908	G	A	APOA1	c.93C>T	NM_001318021.1	NP_001304950.1:p.(Arg31=)	NC_000011.9:g.116706908G>A	(Likely) benign	1 lab	2b622d7bba
11:108114774 ATM A>T	11	108114774	108114774	A	T	ATM	c.591A>T	NM_000051.4	NP_000042.3:p.(Gly197=)	NC_000011.9:g.108114774A>T	(Likely) benign	1 lab	2b63645ef7
2:21245747 APOB A>G	2	21245747	21245747	A	G	APOB	c.2772T>C	NM_000384.3	NP_000375.3:p.(Phe924=)	NC_000002.11:g.21245747A>G	(Likely) benign	1 lab	2b6441fcb0
6:33141928 COL11A2 AC>A	6	33141928	33141934	AC	A	COL11A2	c.2484+13del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33141934del	(Likely) benign	1 lab	2b799d6015
22:24709287 SPECC1L A>G	22	24709287	24709287	A	G	SPECC1L	c.160A>G	NM_015330.6	NP_056145.5:p.(Ser54Gly)	NC_000022.10:g.24709287A>G	VUS	1 lab	2b65e01cf3
12:1019944 WNK1 G>A	12	1019944	1019944	G	A	WNK1	c.*1986G>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.1019944G>A	(Likely) benign	1 lab	2b6cb46072
3:85199015 CADM2 A>Alt too long to show for this DUP	3	85199015	85232381	A	Alt too long to show for this DUP	CADM2	c.61+190198_61+223562dup	NM_001167675.2	NP_001161147.1:p.?	NC_000003.11:g.85199017_85232381dup	VUS	1 lab	2b6e1a1b75
X:48767240 SLC35A2 AC>A	X	48767240	48767241	AC	A	SLC35A2	c.208del	NM_001282651.2	NP_001269580.1:p.(Val70CysfsTer53)	NC_000023.10:g.48767241del	(Likely) pathogenic	1 lab	2b70d7c623
16:72141461 DHX38 G>A	16	72141461	72141461	G	A	DHX38	c.2809+14G>A	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72141461G>A	(Likely) benign	1 lab	2b70eebcae
X:31697636 DMD A>G	X	31697636	31697636	A	G	DMD	c.7359T>C	NM_004010.3	NP_004001.1:p.(Asn2453=)	NC_000023.10:g.31697636A>G	(Likely) benign	1 lab	2b732efec5
8:42259238 MISSING A>Alt too long to show for this DUP	8	42259238	42384637	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.42259240_42384637dup	VUS	1 lab	2b74ebbc73
1:89270128 PKN2 G>Alt too long to show for this DUP	1	89270128	89299041	G	Alt too long to show for this DUP	PKN2	c.1337_2865dup	NM_006256.4	NP_006247.1:p.(Ile956Ter)	NC_000001.10:g.89270129_89299041dup	VUS	1 lab	2b770fccdc
16:919117 LMF1 C>T	16	919117	919117	C	T	LMF1	c.1018-61G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919117C>T	(Likely) benign	1 lab	2b7b244b93
1:161279699 MPZ T>TGGGGCA	1	161279699	161279716	T	TGGGGCA	MPZ	c.-10_-5dup	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161279711_161279716dup	(Likely) benign	1 lab	2b7c2cfaaf
12:2717707 CACNA1C G>A	12	2717707	2717707	G	A	CACNA1C	c.3447G>A	NM_199460.4	NP_955630.3:p.(Thr1149=)	NC_000012.11:g.2717707G>A	(Likely) benign	1 lab	2b7cf5d633
12:5154187 KCNA5 C>T	12	5154187	5154187	C	T	KCNA5	c.874C>T	NM_002234.4	NP_002225.2:p.(Pro292Ser)	NC_000012.11:g.5154187C>T	VUS	1 lab	2b7da3343e
11:116701613 APOC3 G>T	11	116701613	116701613	G	T	APOC3	c.179+1G>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701613G>T	VUS	1 lab	2b834865fa
20:48098690 KCNB1 TCTC>T	20	48098690	48098697	TCTC	T	KCNB1	c.325_327del	NM_004975.4	NP_004966.1:p.(Glu109del)	NC_000020.10:g.48098695_48098697del	VUS	1 lab	2b8a041df1
1:47882518 FOXE3 C>T	1	47882518	47882518	C	T	FOXE3	c.531C>T	NM_012186.3	NP_036318.1:p.(Ala177=)	NC_000001.10:g.47882518C>T	(Likely) benign	1 lab	2b8aea2214
19:11224252 LDLR C>A	19	11224252	11224252	C	A	LDLR	c.1400C>A	NM_000527.5	NP_000518.1:p.(Thr467Asn)	NC_000019.9:g.11224252C>A	VUS	1 lab	2b92bb1b99
17:41201207 BRCA1 T>C	17	41201207	41201207	T	C	BRCA1	c.5337A>G	NM_007294.4	NP_009225.1:p.(Gln1779=)	NC_000017.10:g.41201207T>C	(Likely) benign	1 lab	2b985eea9f
12:9009820 A2ML1 G>A	12	9009820	9009820	G	A	A2ML1	c.2909G>A	NM_144670.6	NP_653271.3:p.(Cys970Tyr)	NC_000012.11:g.9009820G>A	(Likely) benign	1 lab	2b98da1003
10:69959234 MYPN T>C	10	69959234	69959234	T	C	MYPN	c.3395T>C	NM_032578.4	NP_115967.2:p.(Leu1132Pro)	NC_000010.10:g.69959234T>C	VUS	1 lab	2b99783e66
X:47290599 MISSING A>Alt too long to show for this DUP	X	47290599	47301566	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47290600_47301566dup	VUS	1 lab	2b9b200985
2:40351735 SLC8A1 Ref too long to show for this DEL>A	2	40351735	40438374	Ref too long to show for this DEL	A	SLC8A1	c.1809-32740_2546-8967del	NM_021097.5	NP_066920.1:p.?	NC_000002.11:g.40351737_40438374del	VUS	1 lab	2b9b3e87f6
18:47110018 LIPG A>AGG	18	47110018	47110023	A	AGG	LIPG	c.1254_1255dup	NM_006033.4	NP_006024.1:p.(Ala419GlyfsTer27)	NC_000018.9:g.47110022_47110023dup	VUS	1 lab	2b9d77b064
1:155887393 KHDC4 T>G	1	155887393	155887393	T	G	KHDC4	c.1337A>C	NM_014949.4	NP_055764.2:p.(Gln446Pro)	NC_000001.10:g.155887393T>G	(Likely) benign	1 lab	2b9fd73788
X:49071569 CACNA1F T>C	X	49071569	49071569	T	C	CACNA1F	c.3607A>G	NM_005183.4	NP_005174.2:p.(Asn1203Asp)	NC_000023.10:g.49071569T>C	VUS	1 lab	2b9ff17010
12:125301674 SCARB1 GTGTGTA>G	12	125301674	125301697	GTGTGTA	G	SCARB1	c.284+416_284+421del	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125301692_125301697del	(Likely) benign	1 lab	2ba04b31e0
2:219677060 CYP27A1 C>A	2	219677060	219677060	C	A	CYP27A1	c.562C>A	NM_000784.4	NP_000775.1:p.(Arg188=)	NC_000002.11:g.219677060C>A	(Likely) benign	1 lab	2ba269c60e
16:72821593 ZFHX3 AGCCGCCGCCGCC>A	16	72821593	72821617	AGCCGCCGCCGCC	A	ZFHX3	c.10570_10581del	NM_006885.4	NP_008816.3:p.(Gly3524_Gly3527del)	NC_000016.9:g.72821606_72821617del	(Likely) benign	1 lab	2ba37118f1
16:920347 LMF1 A>G	16	920347	920347	A	G	LMF1	c.834-281T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920347A>G	(Likely) benign	1 lab	2ba4f41c6e
X:85236824 CHM TA>T	X	85236824	85236840	TA	T	CHM	c.117-12del	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236840del	(Likely) benign	1 lab	2ba535dcfb
2:206608039 NRP2 T>C	2	206608039	206608039	T	C	NRP2	c.1404T>C	NM_201266.2	NP_957718.1:p.(Val468=)	NC_000002.11:g.206608039T>C	(Likely) benign	1 lab	2ba7d84b5c
5:131931320 RAD50 C>T	5	131931320	131931320	C	T	RAD50	c.2025C>T	NM_005732.4	NP_005723.2:p.(Asp675=)	NC_000005.9:g.131931320C>T	(Likely) benign	1 lab	2baa94a4ec
4:119644826 SEC24D C>A	4	119644826	119644826	C	A	SEC24D	c.2962-16G>T	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119644826C>A	(Likely) benign	1 lab	2bab189fb3
2:21246137 APOB A>T	2	21246137	21246137	A	T	APOB	c.2605-223T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21246137A>T	(Likely) benign	1 lab	2bad00dc00
1:94544127 ABCA4 A>C	1	94544127	94544127	A	C	ABCA4	c.1356+19T>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94544127A>C	(Likely) benign	1 lab	2badaf3d54
1:151788115 MISSING A>Alt too long to show for this DUP	1	151788115	151821815	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.151788116_151821815dup	VUS	1 lab	2bafd4e13a
17:39913726 JUP G>A	17	39913726	39913726	G	A	JUP	c.1987C>T	NM_002230.4	NP_002221.1:p.(Arg663Cys)	NC_000017.10:g.39913726G>A	VUS	1 lab	2bb0070482
10:112541249 RBM20 C>T	10	112541249	112541249	C	T	RBM20	c.882C>T	NM_001134363.3	NP_001127835.2:p.(Ser294=)	NC_000010.10:g.112541249C>T	(Likely) benign	1 lab	2bb0727d96
2:21236086 APOB G>A	2	21236086	21236086	G	A	APOB	c.4162C>T	NM_000384.3	NP_000375.3:p.(Arg1388Cys)	NC_000002.11:g.21236086G>A	(Likely) benign	1 lab	2bb41ea8bf
1:55512197 PCSK9 C>A	1	55512197	55512197	C	A	PCSK9	c.401C>A	NM_174936.4	NP_777596.2:p.(Ala134Asp)	NC_000001.10:g.55512197C>A	VUS	1 lab	2bbedb2c31
17:41245399 BRCA1 C>A	17	41245399	41245399	C	A	BRCA1	c.2149G>T	NM_007294.4	NP_009225.1:p.(Glu717Ter)	NC_000017.10:g.41245399C>A	(Likely) pathogenic	1 lab	2bbff2dff3
12:119624885 HSPB8 G>C	12	119624885	119624885	G	C	HSPB8	c.423G>C	NM_014365.3	NP_055180.1:p.(Lys141Asn)	NC_000012.11:g.119624885G>C	(Likely) pathogenic	1 lab	2bc3926a48
X:101912681 GPRASP1 G>A	X	101912681	101912681	G	A	GPRASP1	c.3840G>A	NM_001184727.2	NP_001171656.1:p.(Gly1280=)	NC_000023.10:g.101912681G>A	(Likely) benign	1 lab	2bc5b7a580
12:124401249 DNAH10 C>T	12	124401249	124401249	C	T	DNAH10	c.10614C>T	NM_207437.3	NP_997320.2:p.(Ser3538=)	NC_000012.11:g.124401249C>T	(Likely) benign	1 lab	2bc60742aa
1:55522741 PCSK9 C>CCGGT	1	55522741	55522743	C	CCGGT	PCSK9	c.997-262_997-261insGGTC	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522742_55522743insGGTC	(Likely) benign	1 lab	2bc76b60ae
4:86034 ZNF595 TC>T	4	86034	86036	TC	T	ZNF595	c.90dup	NM_001286054.2	NP_001272983.1:p.(Ser31IlefsTer3)	NC_000004.11:g.86036del	(Likely) benign	1 lab	2bca7fed71
11:118392110 KMT2A G>A	11	118392110	118392110	G	A	KMT2A	c.11621G>A	NM_001197104.2	NP_001184033.1:p.(Arg3874Gln)	NC_000011.9:g.118392110G>A	VUS	1 lab	2bcb4ebf02
2:220499298 SLC4A3 G>A	2	220499298	220499298	G	A	SLC4A3	c.1799G>A	NM_001326559.2	NP_001313488.2:p.(Arg600His)	NC_000002.11:g.220499298G>A	VUS	1 lab	2bd70992b8
8:59404301 CYP7A1 G>A	8	59404301	59404301	G	A	CYP7A1	c.1248C>T	NM_000780.4	NP_000771.2:p.(Asn416=)	NC_000008.10:g.59404301G>A	(Likely) benign	1 lab	2bd854dfb0
16:919042 LMF1 G>A	16	919042	919042	G	A	LMF1	c.1351C>T	NM_001352020.1	NP_001338949.1:p.(Arg451Ter)	NC_000016.9:g.919042G>A	VUS	1 lab	2bd85c67aa
X:124769669 MISSING Ref too long to show for this DEL>T	X	124769669	125454603	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.124769670_125454603del	VUS	1 lab	2bdc876211
19:7533829 ARHGEF18 G>A	19	7533829	7533829	G	A	ARHGEF18	c.2873G>A	NM_001130955.2	NP_001124427.2:p.(Arg958Gln)	NC_000019.9:g.7533829G>A	VUS	1 lab	2bdfc16397
2:179438501 TTN G>A	2	179438501	179438501	G	A	TTN	c.72358C>T	NM_001267550.2	NP_001254479.2:p.(Leu24120Phe)	NC_000002.11:g.179438501G>A	VUS	1 lab	2be9030e5f
15:28211970 OCA2 T>C	15	28211970	28211970	T	C	OCA2	c.1504-2A>G	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28211970T>C	(Likely) pathogenic	1 lab	2be99c10d0
10:88476286 LDB3 C>T	10	88476286	88476286	C	T	LDB3	c.1449C>T	NM_001171610.2	NP_001165081.1:p.(Ser483=)	NC_000010.10:g.88476286C>T	(Likely) benign	1 lab	2be9eee305
X:152771982 BGN C>T	X	152771982	152771982	C	T	BGN	c.566-5C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771982C>T	(Likely) benign	1 lab	2bea89eea5
3:53694298 CACNA1D G>A	3	53694298	53694298	G	A	CACNA1D	c.762G>A	NM_000720.4	NP_000711.1:p.(Val254=)	NC_000003.11:g.53694298G>A	(Likely) benign	1 lab	2bed1ee945
19:49700047 TRPM4 A>G	19	49700047	49700047	A	G	TRPM4	c.2561A>G	NM_017636.4	NP_060106.2:p.(Gln854Arg)	NC_000019.9:g.49700047A>G	(Likely) benign	1 lab	2bf16e94c5
17:41226357 BRCA1 G>C	17	41226357	41226357	G	C	BRCA1	c.4666C>G	NM_007294.4	NP_009225.1:p.(Gln1556Glu)	NC_000017.10:g.41226357G>C	(Likely) benign	1 lab	2bf2145799
14:57257010 MISSING Ref too long to show for this DEL>T	14	57257010	57320754	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.57257011_57320754del	(Likely) pathogenic	1 lab	2bf7c79965
X:70443646 GJB1 T>TTCTTCA	X	70443646	70443647	T	TTCTTCA	GJB1	c.89_90insTCTTCA	NM_000166.6	NP_000157.1:p.(Ile30_Phe31insLeuHis)	NC_000023.10:g.70443646_70443647insTCTTCA	(Likely) pathogenic	1 lab	2bfa3df1b5
5:127729008 FBN2 T>C	5	127729008	127729008	T	C	FBN2	c.1285A>G	NM_001999.4	NP_001990.2:p.(Ser429Gly)	NC_000005.9:g.127729008T>C	(Likely) benign	1 lab	2bfa69d2cf
7:128483645 FLNC C>T	7	128483645	128483645	C	T	FLNC	c.2811+14C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483645C>T	(Likely) benign	1 lab	2bfb4533ab
11:47366422 MYBPC3 A>T	11	47366422	47366422	A	T	MYBPC3	c.1091-1247T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366422A>T	(Likely) benign	1 lab	2bfb7b986c
7:116380962 MET A>G	7	116380962	116380962	A	G	MET	c.1584A>G	NM_001127500.3	NP_001120972.1:p.(Gln528=)	NC_000007.13:g.116380962A>G	(Likely) benign	1 lab	2bfddf8599
17:48272470 COL1A1 G>C	17	48272470	48272470	G	C	COL1A1	c.1300-9C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272470G>C	(Likely) benign	1 lab	2bfdfab8e1
20:54824276 MC3R T>C	20	54824276	54824276	T	C	MC3R	c.377T>C	NM_019888.3	NP_063941.3:p.(Ile126Thr)	NC_000020.10:g.54824276T>C	VUS	1 lab	2bff3775a9
X:79943568 BRWD3 CT>C	X	79943568	79943571	CT	C	BRWD3	c.3863del	NM_153252.5	NP_694984.5:p.(Lys1288ArgfsTer11)	NC_000023.10:g.79943571del	(Likely) pathogenic	1 lab	2c0020baac
17:7784368 MISSING T>Alt too long to show for this DUP	17	7784368	7807789	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.7784369_7807789dup	VUS	1 lab	2c01944579
6:119149149 MCM9 C>G	6	119149149	119149149	C	G	MCM9	c.1673G>C	NM_017696.3	NP_060166.2:p.(Cys558Ser)	NC_000006.11:g.119149149C>G	(Likely) benign	1 lab	2c035b7aa3
15:28000638 OCA2 G>A	15	28000638	28000638	G	A	OCA2	c.2433-20C>T	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28000638G>A	(Likely) benign	1 lab	2c0c4a50d6
3:38593239 SCN5A T>G	3	38593239	38593239	T	G	SCN5A	c.4814-190A>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593239T>G	(Likely) benign	1 lab	2c0f29dc8a
12:50500172 GPD1 C>T	12	50500172	50500172	C	T	GPD1	c.462C>T	NM_005276.4	NP_005267.2:p.(Ser154=)	NC_000012.11:g.50500172C>T	(Likely) benign	1 lab	2c10a2c5d9
14:36988447 NKX2-1 G>C	14	36988447	36988447	G	C	NKX2-1	c.116C>G	NM_003317.4	NP_003308.1:p.(Ala39Gly)	NC_000014.8:g.36988447G>C	VUS	1 lab	2c11b33dd9
7:47734913 MISSING G>Alt too long to show for this DUP	7	47734913	47843340	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.47734915_47843340dup	VUS	1 lab	2c11e55a8b
16:15491526 MISSING Ref too long to show for this DEL>G	16	15491526	18546759	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.15491527_18546759del	(Likely) pathogenic	1 lab	2c12cf4660
16:57015107 CETP A>G	16	57015107	57015107	A	G	CETP	c.1184A>G	NM_000078.3	NP_000069.2:p.(Lys395Arg)	NC_000016.9:g.57015107A>G	VUS	1 lab	2c1484fac4
19:11240245 LDLR A>G	19	11240245	11240245	A	G	LDLR	c.2446A>G	NM_000527.5	NP_000518.1:p.(Lys816Glu)	NC_000019.9:g.11240245A>G	VUS	1 lab	2c152b1962
2:189860349 COL3A1 C>A	2	189860349	189860349	C	A	COL3A1	c.1510-69C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860349C>A	(Likely) benign	1 lab	2c19278471
6:65336086 EYS A>T	6	65336086	65336086	A	T	EYS	c.3496T>A	NM_001292009.2	NP_001278938.1:p.(Ser1166Thr)	NC_000006.11:g.65336086A>T	VUS	1 lab	2c1a7fcbf0
6:32011644 TNXB A>G	6	32011644	32011644	A	G	TNXB	c.11406T>C	NM_019105.8	NP_061978.6:p.(Asp3802=)	NC_000006.11:g.32011644A>G	(Likely) benign	1 lab	2c1daa8766
22:50962782 NCAPH2 C>G	22	50962782	50962782	C	G	NCAPH2	c.*978C>G	NM_001185011.2	NP_001171940.1:p.?	NC_000022.10:g.50962782C>G	(Likely) benign	1 lab	2c1f76bdde
7:44149604 AEBP1 G>A	7	44149604	44149604	G	A	AEBP1	c.1151-10G>A	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44149604G>A	(Likely) benign	1 lab	2c2189bdeb
7:91722584 AKAP9 A>G	7	91722584	91722584	A	G	AKAP9	c.9532A>G	NM_005751.5	NP_005742.4:p.(Thr3178Ala)	NC_000007.13:g.91722584A>G	VUS	1 lab	2c252f4ff6
X:91196229 PCDH11X Ref too long to show for this DEL>A	X	91196229	91260780	Ref too long to show for this DEL	A	PCDH11X	c.3033+61958_3033+126508del	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91196230_91260780del	VUS	1 lab	2c295aaa29
1:38172728 CDCA8 A>C	1	38172728	38172728	A	C	CDCA8	c.790A>C	NM_001256875.2	NP_001243804.1:p.(Lys264Gln)	NC_000001.10:g.38172728A>C	VUS	1 lab	2c29c5bfc0
16:46764521 MYLK3 G>A	16	46764521	46764521	G	A	MYLK3	c.1552C>T	NM_182493.3	NP_872299.2:p.(His518Tyr)	NC_000016.9:g.46764521G>A	VUS	1 lab	2c2a4a91c5
17:2238696 TSR1 T>C	17	2238696	2238696	T	C	TSR1	c.422-8A>G	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2238696T>C	(Likely) benign	1 lab	2c2cd7f85e
14:81610715 TSHR C>A	14	81610715	81610715	C	A	TSHR	c.*18C>A	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81610715C>A	(Likely) benign	1 lab	2c2e6c03e1
3:184052019 MISSING T>Alt too long to show for this DUP	3	184052019	184356038	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.184052023_184356038dup	VUS	1 lab	2c2f0e5375
2:27305444 EMILIN1 G>A	2	27305444	27305444	G	A	EMILIN1	c.1005G>A	NM_007046.4	NP_008977.1:p.(Glu335=)	NC_000002.11:g.27305444G>A	(Likely) benign	1 lab	2c3187951b
3:49760011 GMPPB C>A	3	49760011	49760011	C	A	GMPPB	c.561+18G>T	NM_013334.4	NP_037466.3:p.?	NC_000003.11:g.49760011C>A	(Likely) benign	1 lab	2c345bb2fd
12:21926440 KCNJ8 G>A	12	21926440	21926440	G	A	KCNJ8	c.111C>T	NM_004982.4	NP_004973.1:p.(Ile37=)	NC_000012.11:g.21926440G>A	(Likely) benign	1 lab	2c34e932ce
2:179486374 TTN T>C	2	179486374	179486374	T	C	TTN	c.45177A>G	NM_001267550.2	NP_001254479.2:p.(Ala15059=)	NC_000002.11:g.179486374T>C	(Likely) benign	1 lab	2c3736054a
X:38145735 RPGR T>C	X	38145735	38145735	T	C	RPGR	c.2517A>G	NM_001034853.2	NP_001030025.1:p.(Glu839=)	NC_000023.10:g.38145735T>C	(Likely) benign	1 lab	2c373691e5
11:47359852 MYBPC3 A>G	11	47359852	47359852	A	G	MYBPC3	c.2308+219T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359852A>G	(Likely) benign	1 lab	2c3d2f9f7b
2:179396107 TTN-AS1 CA>C	2	179396107	179396108	CA	C	TTN-AS1	n.220-4351del	NR_038272.1		NC_000002.11:g.179396108del	(Likely) benign	1 lab	2c3ec193ce
11:31605856 ELP4 Ref too long to show for this DEL>C	11	31605856	31668393	Ref too long to show for this DEL	C	ELP4	c.382-10458_928-896del	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31605859_31668393del	VUS	1 lab	2c431cbdb4
8:17918986 ASAH1 A>G	8	17918986	17918986	A	G	ASAH1	c.704-19T>C	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17918986A>G	(Likely) benign	1 lab	2c447695a7
6:31239621 HLA-C T>A	6	31239621	31239621	T	A	HLA-C	c.98A>T	NM_002117.6	NP_002108.4:p.(Asp33Val)	NC_000006.11:g.31239621T>A	(Likely) benign	1 lab	2c460ee597
15:45444572 DUOX1 T>C	15	45444572	45444572	T	C	DUOX1	c.3282T>C	NM_017434.5	NP_059130.2:p.(Ser1094=)	NC_000015.9:g.45444572T>C	(Likely) benign	1 lab	2c466260d5
19:11218192 LDLR T>G	19	11218192	11218192	T	G	LDLR	c.940+2T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218192T>G	(Likely) pathogenic	1 lab	2c4ab77ae1
15:48892441 FBN1 AAAG>A	15	48892441	48892452	AAAG	A	FBN1	c.347-13_347-11del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48892450_48892452del	(Likely) benign	1 lab	2c4e275b3c
16:49671504 ZNF423 T>C	16	49671504	49671504	T	C	ZNF423	c.1379A>G	NM_001271620.2	NP_001258549.1:p.(Asn460Ser)	NC_000016.9:g.49671504T>C	VUS	1 lab	2c4ecc0911
5:127704905 FBN2 G>A	5	127704905	127704905	G	A	FBN2	c.2218C>T	NM_001999.4	NP_001990.2:p.(Pro740Ser)	NC_000005.9:g.127704905G>A	VUS	1 lab	2c4fd43d6c
4:111542322 PITX2 G>A	4	111542322	111542322	G	A	PITX2	c.388C>T	NM_001204397.1	NP_001191326.1:p.(Arg130Trp)	NC_000004.11:g.111542322G>A	(Likely) pathogenic	1 lab	2c57ef4bac
11:64955904 CAPN1 G>A	11	64955904	64955904	G	A	CAPN1	c.949G>A	NM_005186.4	NP_005177.2:p.(Val317Met)	NC_000011.9:g.64955904G>A	VUS	1 lab	2c5ad41e30
12:13716422 GRIN2B G>T	12	13716422	13716422	G	T	GRIN2B	c.3750C>A	NM_000834.5	NP_000825.2:p.(Asn1250Lys)	NC_000012.11:g.13716422G>T	VUS	1 lab	2c5bff806d
8:59412620 CYP7A1 G>A	8	59412620	59412620	G	A	CYP7A1	c.38C>T	NM_000780.4	NP_000771.2:p.(Ala13Val)	NC_000008.10:g.59412620G>A	(Likely) benign	1 lab	2c5c93b2fe
X:18665379 CDKL5 C>T	X	18665379	18665379	C	T	CDKL5	c.2797+1169C>T	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18665379C>T	(Likely) benign	1 lab	2c5c93e4ba
11:47364615 MYBPC3 G>T	11	47364615	47364615	G	T	MYBPC3	c.1308C>A	NM_000256.3	NP_000247.2:p.(Cys436Ter)	NC_000011.9:g.47364615G>T	(Likely) pathogenic	1 lab	2c5d55475d
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-25_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844572_100844594dup	(Likely) benign	1 lab	2c620d3846
X:70444096 GJB1 T>C	X	70444096	70444096	T	C	GJB1	c.539T>C	NM_000166.6	NP_000157.1:p.(Phe180Ser)	NC_000023.10:g.70444096T>C	(Likely) pathogenic	1 lab	2c62666bd9
2:21228249 APOB C>T	2	21228249	21228249	C	T	APOB	c.11491G>A	NM_000384.3	NP_000375.3:p.(Val3831Ile)	NC_000002.11:g.21228249C>T	(Likely) benign	1 lab	2c6355478b
1:21896972 ALPL G>A	1	21896972	21896972	G	A	ALPL	c.862+105G>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21896972G>A	(Likely) benign	1 lab	2c64239cc6
1:74701847 TNNI3K C>T	1	74701847	74701847	C	T	TNNI3K	c.102C>T	NM_015978.3	NP_057062.1:p.(Asp34=)	NC_000001.10:g.74701847C>T	(Likely) benign	1 lab	2c66695a56
16:1003967 LMF1 TCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTC>T	16	1003967	1004050	TCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTC	T	LMF1	c.-52+308_-52+389del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003969_1004050del	(Likely) benign	1 lab	2c6d37da14
2:44065796 ABCG5 G>T	2	44065796	44065796	G	T	ABCG5	c.23C>A	NM_022436.3	NP_071881.1:p.(Thr8Asn)	NC_000002.11:g.44065796G>T	VUS	1 lab	2c7054690f
X:119607172 MISSING T>Alt too long to show for this DUP	X	119607172	119611286	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.119607173_119611286dup	VUS	1 lab	2c72832a0b
2:179435498 TTN T>C	2	179435498	179435498	T	C	TTN	c.75361A>G	NM_001267550.2	NP_001254479.2:p.(Ile25121Val)	NC_000002.11:g.179435498T>C	(Likely) benign	1 lab	2c74388c7f
5:90124864 ADGRV1 G>A	5	90124864	90124864	G	A	ADGRV1	c.16472G>A	NM_032119.4	NP_115495.3:p.(Ser5491Asn)	NC_000005.9:g.90124864G>A	VUS	1 lab	2c7676d63d
19:50909683 POLD1 A>C	19	50909683	50909683	A	C	POLD1	c.1403A>C	NM_001256849.1	NP_001243778.1:p.(Lys468Thr)	NC_000019.9:g.50909683A>C	VUS	1 lab	2c76c773dd
1:53093323 MISSING Ref too long to show for this DEL>A	1	53093323	53131642	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.53093324_53131642del	VUS	1 lab	2c789dc054
6:169631998 THBS2 G>A	6	169631998	169631998	G	A	THBS2	c.2151+77C>T	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169631998G>A	(Likely) benign	1 lab	2c7e701ac7
X:107979221 IRS4 G>A	X	107979221	107979221	G	A	IRS4	c.354C>T	NM_003604.2	NP_003595.1:p.(Phe118=)	NC_000023.10:g.107979221G>A	(Likely) benign	1 lab	2c7efaf4b2
9:140441366 PNPLA7 A>AG	9	140441366	140441370	A	AG	PNPLA7	c.194-6dup	NM_001098537.3	NP_001092007.2:p.?	NC_000009.11:g.140441370dup	(Likely) benign	1 lab	2c800d4053
15:48808495 FBN1 T>G	15	48808495	48808495	T	G	FBN1	c.1212A>C	NM_000138.5	NP_000129.3:p.(Pro404=)	NC_000015.9:g.48808495T>G	(Likely) benign	1 lab	2c804feef9
6:7559521 DSP G>A	6	7559521	7559521	G	A	DSP	c.485G>A	NM_004415.4	NP_004406.2:p.(Arg162His)	NC_000006.11:g.7559521G>A	VUS	1 lab	2c82590e26
17:40762226 TUBG1 C>T	17	40762226	40762226	C	T	TUBG1	c.150C>T	NM_001070.5	NP_001061.2:p.(Val50=)	NC_000017.10:g.40762226C>T	(Likely) benign	1 lab	2c84e5d8b0
2:179575893 TTN G>A	2	179575893	179575893	G	A	TTN	c.28070C>T	NM_001267550.2	NP_001254479.2:p.(Thr9357Ile)	NC_000002.11:g.179575893G>A	(Likely) benign	1 lab	2c88edb728
1:103380373 COL11A1 C>A	1	103380373	103380373	C	A	COL11A1	c.3853-6G>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103380373C>A	(Likely) benign	1 lab	2c89d6d4bd
1:236924314 ACTN2 G>A	1	236924314	236924314	G	A	ACTN2	c.1744-1G>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236924314G>A	VUS	1 lab	2c8de5b59f
2:179403687 TTN C>T	2	179403687	179403687	C	T	TTN	c.98975G>A	NM_001267550.2	NP_001254479.2:p.(Cys32992Tyr)	NC_000002.11:g.179403687C>T	VUS	1 lab	2c8f48d64d
12:990083 WNK1 T>G	12	990083	990083	T	G	WNK1	c.3809T>G	NM_001184985.2	NP_001171914.1:p.(Val1270Gly)	NC_000012.11:g.990083T>G	VUS	1 lab	2c90bac4ba
7:151860344 KMT2C C>A	7	151860344	151860344	C	A	KMT2C	c.10318G>T	NM_170606.3	NP_733751.2:p.(Glu3440Ter)	NC_000007.13:g.151860344C>A	(Likely) pathogenic	1 lab	2c9184e8fb
1:150316620 PRPF3 G>T	1	150316620	150316620	G	T	PRPF3	c.1022-18G>T	NM_001350529.1	NP_001337458.1:p.?	NC_000001.10:g.150316620G>T	(Likely) benign	1 lab	2c9713aa5e
19:11224032 LDLR T>C	19	11224032	11224032	T	C	LDLR	c.1265T>C	NM_000527.5	NP_000518.1:p.(Leu422Pro)	NC_000019.9:g.11224032T>C	(Likely) pathogenic	1 lab	2c9d1e28c3
17:39925786 JUP C>T	17	39925786	39925786	C	T	JUP	c.352G>A	NM_001352773.2	NP_001339702.1:p.(Glu118Lys)	NC_000017.10:g.39925786C>T	VUS	1 lab	2c9e969449
2:179635210 TTN GCA>G	2	179635210	179635214	GCA	G	TTN	c.8307_8308del	NM_001267550.2	NP_001254479.2:p.(Ala2770HisfsTer4)	NC_000002.11:g.179635213_179635214del	(Likely) pathogenic	1 lab	2c9f432d15
2:61719527 XPO1 T>C	2	61719527	61719527	T	C	XPO1	c.1656A>G	NM_003400.4	NP_003391.1:p.(Pro552=)	NC_000002.11:g.61719527T>C	(Likely) benign	1 lab	2c9f5e10f8
7:14435596 DGKB Ref too long to show for this DEL>A	7	14435596	14455333	Ref too long to show for this DEL	A	DGKB	c.1835+62453_1836-50581del	NM_001350709.2	NP_001337638.1:p.?	NC_000007.13:g.14435597_14455333del	VUS	1 lab	2ca0d37fd5
17:59858260 BRIP1 G>A	17	59858260	59858260	G	A	BRIP1	c.1735C>T	NM_032043.3	NP_114432.2:p.(Arg579Cys)	NC_000017.10:g.59858260G>A	VUS	1 lab	2ca138934f
1:237494239 RYR2 C>T	1	237494239	237494239	C	T	RYR2	c.230C>T	NM_001035.3	NP_001026.2:p.(Ala77Val)	NC_000001.10:g.237494239C>T	(Likely) pathogenic	1 lab	2ca14ae70a
8:10464474 RP1L1 G>T	8	10464474	10464474	G	T	RP1L1	c.7134C>A	NM_178857.6	NP_849188.4:p.(Leu2378=)	NC_000008.10:g.10464474G>T	(Likely) benign	1 lab	2ca1d13fa9
10:68381530 CTNNA3 C>G	10	68381530	68381530	C	G	CTNNA3	c.1294G>C	NM_013266.4	NP_037398.2:p.(Ala432Pro)	NC_000010.10:g.68381530C>G	VUS	1 lab	2ca7de2b6f
2:220149627 DNAJB2 G>A	2	220149627	220149627	G	A	DNAJB2	c.893G>A	NM_006736.6	NP_006727.2:p.(Gly298Glu)	NC_000002.11:g.220149627G>A	VUS	1 lab	2ca9232cad
1:23871269 MISSING A>Alt too long to show for this DUP	1	23871269	24456519	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.23871270_24456519dup	VUS	1 lab	2caca953f1
X:9656194 TBL1X G>A	X	9656194	9656194	G	A	TBL1X	c.495G>A	NM_005647.4	NP_005638.1:p.(Ala165=)	NC_000023.10:g.9656194G>A	(Likely) benign	1 lab	2cb1810aa9
9:107555071 ABCA1 G>A	9	107555071	107555071	G	A	ABCA1	c.5753C>T	NM_005502.4	NP_005493.2:p.(Thr1918Met)	NC_000009.11:g.107555071G>A	VUS	1 lab	2cb795607d
12:53591604 ITGB7 G>A	12	53591604	53591604	G	A	ITGB7	c.333C>T	NM_000889.3	NP_000880.1:p.(Leu111=)	NC_000012.11:g.53591604G>A	(Likely) benign	1 lab	2cb8bc56bb
15:72020978 THSD4 C>T	15	72020978	72020978	C	T	THSD4	c.1448C>T	NM_024817.2	NP_079093.2:p.(Thr483Ile)	NC_000015.9:g.72020978C>T	VUS	1 lab	2cbbfb239c
17:45216162 CDC27 A>C	17	45216162	45216162	A	C	CDC27	c.1665T>G	NM_001114091.4	NP_001107563.1:p.(Asp555Glu)	NC_000017.10:g.45216162A>C	(Likely) benign	1 lab	2cbca04507
7:128485504 FLNC T>C	7	128485504	128485504	T	C	FLNC	c.3790+195T>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128485504T>C	(Likely) benign	1 lab	2cbfacc33c
X:534994 MISSING T>Alt too long to show for this DUP	X	534994	695083	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.534998_695083dup	VUS	1 lab	2cbfcbfdcf
3:38938441 SCN11A G>A	3	38938441	38938441	G	A	SCN11A	c.2298C>T	NM_001349253.2	NP_001336182.1:p.(Cys766=)	NC_000003.11:g.38938441G>A	(Likely) benign	1 lab	2cc27d5e36
8:55541396 RP1 C>T	8	55541396	55541396	C	T	RP1	c.4954C>T	NM_006269.2	NP_006260.1:p.(Arg1652Cys)	NC_000008.10:g.55541396C>T	VUS	1 lab	2cc6908709
5:86682707 RASA1 T>TA	5	86682707	86682708	T	TA	RASA1	c.2913dup	NM_002890.3	NP_002881.1:p.(Asp972ArgfsTer2)	NC_000005.9:g.86682708dup	(Likely) pathogenic	1 lab	2cc8252f5c
15:31359377 TRPM1 G>A	15	31359377	31359377	G	A	TRPM1	c.558C>T	NM_001252020.2	NP_001238949.1:p.(His186=)	NC_000015.9:g.31359377G>A	(Likely) benign	1 lab	2ccaf269e3
2:179447135 TTN G>A	2	179447135	179447135	G	A	TTN	c.66048C>T	NM_001267550.2	NP_001254479.2:p.(Ser22016=)	NC_000002.11:g.179447135G>A	(Likely) benign	1 lab	2ccb0c54e4
16:28877481 SH2B1 G>A	16	28877481	28877481	G	A	SH2B1	c.66G>A	NM_001145795.2	NP_001139267.1:p.(Pro22=)	NC_000016.9:g.28877481G>A	(Likely) benign	1 lab	2ccda370d7
17:58235724 CA4 C>T	17	58235724	58235724	C	T	CA4	c.661C>T	NM_000717.5	NP_000708.1:p.(Leu221=)	NC_000017.10:g.58235724C>T	(Likely) benign	1 lab	2ccdc9973b
6:32021414 TNXB C>T	6	32021414	32021414	C	T	TNXB	c.8536G>A	NM_019105.8	NP_061978.6:p.(Gly2846Arg)	NC_000006.11:g.32021414C>T	(Likely) benign	1 lab	2cce33847e
16:88503799 ZNF469 G>A	16	88503799	88503799	G	A	ZNF469	c.9921G>A	NM_001367624.2	NP_001354553.1:p.(Thr3307=)	NC_000016.9:g.88503799G>A	(Likely) benign	1 lab	2cce73e7ff
2:179477964 TTN A>C	2	179477964	179477964	A	C	TTN	c.49572T>G	NM_001267550.2	NP_001254479.2:p.(Arg16524=)	NC_000002.11:g.179477964A>C	(Likely) benign	1 lab	2ccf3adfb3
2:179635001 TTN A>AT	2	179635001	179635005	A	AT	TTN	c.8426dup	NM_001267550.2	NP_001254479.2:p.(Asn2809LysfsTer7)	NC_000002.11:g.179635005dup	(Likely) pathogenic	1 lab	2cd1e55baa
X:74933718 MISSING C>Alt too long to show for this DUP	X	74933718	75565552	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.74933720_75565552dup	VUS	1 lab	2cd1f4a6e2
9:107550253 ABCA1 C>G	9	107550253	107550253	C	G	ABCA1	c.6152G>C	NM_005502.4	NP_005493.2:p.(Arg2051Pro)	NC_000009.11:g.107550253C>G	VUS	1 lab	2cd372fcce
16:67974052 LCAT G>T	16	67974052	67974052	G	T	LCAT	c.1078C>A	NM_000229.2	NP_000220.1:p.(Pro360Thr)	NC_000016.9:g.67974052G>T	VUS	1 lab	2cd85d92c2
6:100838944 SIM1 T>C	6	100838944	100838944	T	C	SIM1	c.1594A>G	NM_005068.3	NP_005059.2:p.(Ser532Gly)	NC_000006.11:g.100838944T>C	VUS	1 lab	2cdb2ae0a5
12:122248192 SETD1B G>A	12	122248192	122248192	G	A	SETD1B	c.1341G>A	NM_001353345.2	NP_001340274.1:p.(Lys447=)	NC_000012.11:g.122248192G>A	(Likely) benign	1 lab	2cddcd7d03
11:47365400 MYBPC3 C>T	11	47365400	47365400	C	T	MYBPC3	c.1091-225G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365400C>T	(Likely) benign	1 lab	2cddec1903
11:47358040 MYBPC3 C>CAAA	11	47358040	47358064	C	CAAA	MYBPC3	c.2603-481_2603-479dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358062_47358064dup	(Likely) benign	1 lab	2ce1e21813
18:21114466 NPC1 T>C	18	21114466	21114466	T	C	NPC1	c.3535A>G	NM_000271.5	NP_000262.2:p.(Met1179Val)	NC_000018.9:g.21114466T>C	(Likely) benign	1 lab	2ce4c1f3c9
16:68845615 CDH1 A>G	16	68845615	68845615	A	G	CDH1	c.861A>G	NM_004360.5	NP_004351.1:p.(Thr287=)	NC_000016.9:g.68845615A>G	(Likely) benign	1 lab	2ce64545ca
19:10939806 DNM2 G>A	19	10939806	10939806	G	A	DNM2	c.2153G>A	NM_001005360.3	NP_001005360.1:p.(Arg718Gln)	NC_000019.9:g.10939806G>A	VUS	1 lab	2cea540464
19:11213532 LDLR G>A	19	11213532	11213532	G	A	LDLR	c.313+70G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213532G>A	VUS	1 lab	2ceef64579
X:32466594 DMD A>G	X	32466594	32466594	A	G	DMD	c.3765T>C	NM_004006.3	NP_003997.2:p.(Asn1255=)	NC_000023.10:g.32466594A>G	(Likely) benign	1 lab	2cf028b1ce
X:31222151 DMD G>C	X	31222151	31222151	G	C	DMD	c.9365C>G	NM_004010.3	NP_004001.1:p.(Pro3122Arg)	NC_000023.10:g.31222151G>C	VUS	1 lab	2cf3424b0d
9:107568584 ABCA1 C>T	9	107568584	107568584	C	T	ABCA1	c.4402G>A	NM_005502.4	NP_005493.2:p.(Asp1468Asn)	NC_000009.11:g.107568584C>T	VUS	1 lab	2cf4636226
8:59410952 CYP7A1 G>A	8	59410952	59410952	G	A	CYP7A1	c.157C>T	NM_000780.4	NP_000771.2:p.(Leu53Phe)	NC_000008.10:g.59410952G>A	VUS	1 lab	2cf615e218
22:50886041 SBF1 G>C	22	50886041	50886041	G	C	SBF1	c.5364-3C>G	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50886041G>C	(Likely) benign	1 lab	2cf8397972
1:200143087 NR5A2 G>T	1	200143087	200143087	G	T	NR5A2	c.1379-4G>T	NM_205860.3	NP_995582.1:p.?	NC_000001.10:g.200143087G>T	(Likely) benign	1 lab	2cff40fc99
3:1161689 MISSING C>Alt too long to show for this DUP	3	1161689	1671618	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.1161690_1671618dup	VUS	1 lab	2cff81a178
6:32551949 HLA-DRB1 C>T	6	32551949	32551949	C	T	HLA-DRB1	c.307G>A	NM_002124.4	NP_002115.2:p.(Ala103Thr)	NC_000006.11:g.32551949C>T	(Likely) benign	1 lab	2d02ce715d
6:64451848 EYS A>G	6	64451848	64451848	A	G	EYS	c.8092T>C	NM_001292009.2	NP_001278938.1:p.(Leu2698=)	NC_000006.11:g.64451848A>G	(Likely) benign	1 lab	2d0430e9d9
7:100859234 PLOD3 G>A	7	100859234	100859234	G	A	PLOD3	c.570C>T	NM_001084.5	NP_001075.1:p.(Asp190=)	NC_000007.13:g.100859234G>A	(Likely) benign	1 lab	2d05b14ccc
9:107599390 ABCA1 G>A	9	107599390	107599390	G	A	ABCA1	c.1195-13C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599390G>A	(Likely) benign	1 lab	2d0c10ed9b
16:920080 LMF1 G>A	16	920080	920080	G	A	LMF1	c.1233-14C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.920080G>A	(Likely) benign	1 lab	2d10c4c2e1
17:7359142 CHRNB1 TGC>T	17	7359142	7359145	TGC	T	CHRNB1	c.1249_1250del	NM_000747.3	NP_000738.2:p.(Arg417AlafsTer98)	NC_000017.10:g.7359144_7359145del	VUS	1 lab	2d1897791c
19:50340138 MED25 G>T	19	50340138	50340138	G	T	MED25	c.2181G>T	NM_030973.4	NP_112235.2:p.(Pro727=)	NC_000019.9:g.50340138G>T	(Likely) benign	1 lab	2d1bc5a017
10:89685307 PTEN T>A	10	89685307	89685307	T	A	PTEN	c.202T>A	NM_000314.8	NP_000305.3:p.(Tyr68Asn)	NC_000010.10:g.89685307T>A	(Likely) pathogenic	1 lab	2d1ce7709b
1:225974593 SRP9 G>T	1	225974593	225974593	G	T	SRP9	c.171G>T	NM_001130440.2	NP_001123912.1:p.(Leu57=)	NC_000001.10:g.225974593G>T	(Likely) benign	1 lab	2d1d0f6fd4
17:75316275 SEPTIN9 G>C	17	75316275	75316275	G	C	SEPTIN9	c.-134G>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75316275G>C	(Likely) pathogenic	1 lab	2d1d340824
12:49425853 KMT2D C>T	12	49425853	49425853	C	T	KMT2D	c.12635G>A	NM_003482.4	NP_003473.3:p.(Arg4212Gln)	NC_000012.11:g.49425853C>T	VUS	1 lab	2d22d2219d
9:107584794 ABCA1 C>T	9	107584794	107584794	C	T	ABCA1	c.2811G>A	NM_005502.4	NP_005493.2:p.(Ala937=)	NC_000009.11:g.107584794C>T	(Likely) benign	1 lab	2d2347ba7e
9:107588124 ABCA1 A>G	9	107588124	107588124	A	G	ABCA1	c.2382T>C	NM_005502.4	NP_005493.2:p.(Phe794=)	NC_000009.11:g.107588124A>G	(Likely) benign	1 lab	2d25ecee20
15:23811423 MKRN3 C>T	15	23811423	23811423	C	T	MKRN3	c.494C>T	NM_005664.4	NP_005655.1:p.(Ser165Phe)	NC_000015.9:g.23811423C>T	VUS	1 lab	2d29d65a19
2:179412596 TTN C>A	2	179412596	179412596	C	A	TTN	c.93757G>T	NM_001267550.2	NP_001254479.2:p.(Glu31253Ter)	NC_000002.11:g.179412596C>A	(Likely) pathogenic	1 lab	2d32118ebf
11:2482956 KCNQ1 G>A	11	2482956	2482956	G	A	KCNQ1	c.386+16242G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2482956G>A	(Likely) benign	1 lab	2d39c49aa2
1:68897177 RPE65 A>G	1	68897177	68897177	A	G	RPE65	c.1220T>C	NM_000329.3	NP_000320.1:p.(Val407Ala)	NC_000001.10:g.68897177A>G	VUS	1 lab	2d3b941d0e
14:97319244 VRK1 C>T	14	97319244	97319244	C	T	VRK1	c.451C>T	NM_003384.3	NP_003375.1:p.(Arg151Trp)	NC_000014.8:g.97319244C>T	VUS	1 lab	2d45cd2c4a
3:50378098 RASSF1 C>A	3	50378098	50378098	C	A	RASSF1	c.139G>T	NM_007182.5	NP_009113.3:p.(Val47Phe)	NC_000003.11:g.50378098C>A	(Likely) benign	1 lab	2d472869be
19:11224022 LDLR T>C	19	11224022	11224022	T	C	LDLR	c.1255T>C	NM_000527.5	NP_000518.1:p.(Tyr419His)	NC_000019.9:g.11224022T>C	(Likely) pathogenic	1 lab	2d47b730e8
X:70444190 GJB1 C>A	X	70444190	70444190	C	A	GJB1	c.633C>A	NM_000166.6	NP_000157.1:p.(Tyr211Ter)	NC_000023.10:g.70444190C>A	(Likely) pathogenic	1 lab	2d4b241c65
15:85360613 ALPK3 CG>C	15	85360613	85360618	CG	C	ALPK3	c.-66del	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85360618del	(Likely) pathogenic	1 lab	2d4e544bba
5:89921037 ADGRV1 A>G	5	89921037	89921037	A	G	ADGRV1	c.649A>G	NM_032119.4	NP_115495.3:p.(Asn217Asp)	NC_000005.9:g.89921037A>G	VUS	1 lab	2d50cfefd7
7:72403229 MISSING Ref too long to show for this DEL>T	7	72403229	72718125	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72403232_72718125del	VUS	1 lab	2d54325814
12:96184102 NTN4 G>A	12	96184102	96184102	G	A	NTN4	c.-15C>T	NM_021229.4	NP_067052.2:p.?	NC_000012.11:g.96184102G>A	(Likely) benign	1 lab	2d5a3e99c6
1:43071810 MISSING Ref too long to show for this DEL>T	1	43071810	43135681	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.43071812_43135681del	VUS	1 lab	2d5f19dce8
13:48832940 ITM2B C>T	13	48832940	48832940	C	T	ITM2B	c.572C>T	NM_021999.5	NP_068839.1:p.(Thr191Ile)	NC_000013.10:g.48832940C>T	(Likely) benign	1 lab	2d627926dd
11:47369174 MYBPC3 G>T	11	47369174	47369174	G	T	MYBPC3	c.851+28C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369174G>T	(Likely) benign	1 lab	2d669fbe55
8:133899124 TG C>T	8	133899124	133899124	C	T	TG	c.1507C>T	NM_003235.5	NP_003226.4:p.(Gln503Ter)	NC_000008.10:g.133899124C>T	(Likely) pathogenic	1 lab	2d66a23f03
15:85400128 ALPK3 T>C	15	85400128	85400128	T	C	ALPK3	c.2159T>C	NM_020778.5	NP_065829.4:p.(Met720Thr)	NC_000015.9:g.85400128T>C	VUS	1 lab	2d66fb78bd
9:107581873 ABCA1 G>A	9	107581873	107581873	G	A	ABCA1	c.3235C>T	NM_005502.4	NP_005493.2:p.(Arg1079Ter)	NC_000009.11:g.107581873G>A	(Likely) pathogenic	1 lab	2d68175ed0
19:11238700 LDLR T>C	19	11238700	11238700	T	C	LDLR	c.2328T>C	NM_000527.5	NP_000518.1:p.(Ala776=)	NC_000019.9:g.11238700T>C	(Likely) benign	1 lab	2d6be1ff59
8:87680406 CNGB3 G>GA	8	87680406	87680417	G	GA	CNGB3	c.494-11dup	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87680417dup	(Likely) benign	1 lab	2d6bffff9e
12:21369964 SLCO1B1 T>C	12	21369964	21369964	T	C	SLCO1B1	c.1498-89T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21369964T>C	(Likely) benign	1 lab	2d6d5cea87
10:48382067 RBP3 C>T	10	48382067	48382067	C	T	RBP3	c.3582G>A	NM_002900.3	NP_002891.1:p.(Thr1194=)	NC_000010.10:g.48382067C>T	VUS	1 lab	2d6e3804fa
2:21234873 APOB C>T	2	21234873	21234873	C	T	APOB	c.4867G>A	NM_000384.3	NP_000375.3:p.(Gly1623Ser)	NC_000002.11:g.21234873C>T	VUS	1 lab	2d71c5c940
15:89753913 RLBP1 G>A	15	89753913	89753913	G	A	RLBP1	c.795+17C>T	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89753913G>A	(Likely) benign	1 lab	2d74dddad4
19:11238548 LDLR A>G	19	11238548	11238548	A	G	LDLR	c.2312-136A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238548A>G	(Likely) benign	1 lab	2d763f73d3
7:100273961 GNB2 G>C	7	100273961	100273961	G	C	GNB2	c.57+16G>C	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100273961G>C	(Likely) benign	1 lab	2d76c3eaba
3:48624782 COL7A1 G>C	3	48624782	48624782	G	C	COL7A1	c.2993-13C>G	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48624782G>C	(Likely) benign	1 lab	2d789df88d
11:128781961 KCNJ5 G>A	11	128781961	128781961	G	A	KCNJ5	c.793G>A	NM_001354169.2	NP_001341098.1:p.(Asp265Asn)	NC_000011.9:g.128781961G>A	VUS	1 lab	2d79593470
4:114267166 ANK2 G>A	4	114267166	114267166	G	A	ANK2	c.4500G>A	NM_001386174.1	NP_001373103.1:p.(Pro1500=)	NC_000004.11:g.114267166G>A	(Likely) benign	1 lab	2d7a0188c4
1:25870018 LDLRAP1 C>G	1	25870018	25870018	C	G	LDLRAP1				NC_000001.10:g.25870018C>G	(Likely) benign	1 lab	2d7d7921c3
17:37822315 TCAP C>T	17	37822315	37822315	C	T	TCAP	c.457C>T	NM_003673.4	NP_003664.1:p.(Arg153Cys)	NC_000017.10:g.37822315C>T	VUS	1 lab	2d7d845608
9:139326944 INPP5E A>G	9	139326944	139326944	A	G	INPP5E	c.1374T>C	NM_019892.6	NP_063945.2:p.(Tyr458=)	NC_000009.11:g.139326944A>G	(Likely) benign	1 lab	2d82d6b2a9
6:7579519 DSP C>T	6	7579519	7579519	C	T	DSP	c.3096C>T	NM_004415.4	NP_004406.2:p.(Thr1032=)	NC_000006.11:g.7579519C>T	(Likely) benign	1 lab	2d882de7ce
18:6965318 LAMA1 G>A	18	6965318	6965318	G	A	LAMA1	c.7164C>T	NM_005559.4	NP_005550.2:p.(Tyr2388=)	NC_000018.9:g.6965318G>A	(Likely) benign	1 lab	2d8986b6b1
2:179435182 TTN CA>C	2	179435182	179435184	CA	C	TTN	c.75676del	NM_001267550.2	NP_001254479.2:p.(Trp25226GlyfsTer13)	NC_000002.11:g.179435184del	(Likely) pathogenic	1 lab	2d89b4475e
2:21228467 APOB A>G	2	21228467	21228467	A	G	APOB	c.11273T>C	NM_000384.3	NP_000375.3:p.(Val3758Ala)	NC_000002.11:g.21228467A>G	VUS	1 lab	2d8bf3735f
9:123476542 MEGF9 ACGGCGG>A	9	123476542	123476568	ACGGCGG	A	MEGF9	c.89_94del	NM_001080497.3	NP_001073966.2:p.(Ala30_Ala31del)	NC_000009.11:g.123476563_123476568del	(Likely) benign	1 lab	2d8cfc0394
16:942995 LMF1 C>T	16	942995	942995	C	T	LMF1	c.330+12G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942995C>T	(Likely) benign	1 lab	2da066a28a
2:189872789 COL3A1 G>A	2	189872789	189872789	G	A	COL3A1	c.3446G>A	NM_000090.4	NP_000081.2:p.(Gly1149Asp)	NC_000002.11:g.189872789G>A	(Likely) pathogenic	1 lab	2d8d8b93a6
3:180359941 CCDC39 G>A	3	180359941	180359941	G	A	CCDC39	c.1714C>T	NM_181426.2	NP_852091.1:p.(Arg572Ter)	NC_000003.11:g.180359941G>A	(Likely) pathogenic	1 lab	2d8db69916
13:52508964 ATP7B G>A	13	52508964	52508964	G	A	ATP7B	c.4326C>T	NM_000053.4	NP_000044.2:p.(Ser1442=)	NC_000013.10:g.52508964G>A	(Likely) benign	1 lab	2d8fa1b0c1
2:21256371 APOB G>A	2	21256371	21256371	G	A	APOB	c.924C>T	NM_000384.3	NP_000375.3:p.(Leu308=)	NC_000002.11:g.21256371G>A	(Likely) benign	1 lab	2f637338ed
4:106367613 PPA2 T>C	4	106367613	106367613	T	C	PPA2	c.368A>G	NM_176869.3	NP_789845.1:p.(Asp123Gly)	NC_000004.11:g.106367613T>C	VUS	1 lab	2d94be196c
13:32914021 BRCA2 A>T	13	32914021	32914021	A	T	BRCA2	c.5529A>T	NM_000059.4	NP_000050.3:p.(Ala1843=)	NC_000013.10:g.32914021A>T	(Likely) benign	1 lab	2d94ce5337
17:79496068 FSCN2 G>A	17	79496068	79496068	G	A	FSCN2	c.511G>A	NM_001077182.3	NP_001070650.1:p.(Val171Met)	NC_000017.10:g.79496068G>A	(Likely) benign	1 lab	2d9634b083
17:65353644 PSMD12 CT>C	17	65353644	65353645	CT	C	PSMD12	c.158del	NM_002816.5	NP_002807.1:p.(Gln53ArgfsTer15)	NC_000017.10:g.65353645del	VUS	1 lab	2d97d0c910
16:89389645 ANKRD11 G>C	16	89389645	89389645	G	C	ANKRD11	c.-59-6159C>G	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89389645G>C	(Likely) benign	1 lab	2d97d35e59
12:2694587 CACNA1C A>C	12	2694587	2694587	A	C	CACNA1C	c.2385A>C	NM_199460.4	NP_955630.3:p.(Ala795=)	NC_000012.11:g.2694587A>C	(Likely) benign	1 lab	2d9c1a94dc
1:103496807 COL11A1 A>G	1	103496807	103496807	A	G	COL11A1	c.652-7T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496807A>G	(Likely) benign	1 lab	2da171d7db
3:159186293 SCHIP1 Ref too long to show for this DEL>T	3	159186293	159199660	Ref too long to show for this DEL	T	SCHIP1	c.63+194624_63+207988del	NM_014575.4	NP_055390.1:p.?	NC_000003.11:g.159186296_159199660del	VUS	1 lab	2da395f56b
11:94263705 MISSING Ref too long to show for this DEL>C	11	94263705	94420635	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.94263706_94420635del	VUS	1 lab	2da50b7864
2:179600389 TTN G>T	2	179600389	179600389	G	T	TTN	c.14784C>A	NM_001267550.2	NP_001254479.2:p.(Leu4928=)	NC_000002.11:g.179600389G>T	(Likely) benign	1 lab	2daa8f8741
2:102488040 MAP4K4 C>T	2	102488040	102488040	C	T	MAP4K4	c.2512C>T	NM_145686.4	NP_663719.2:p.(Gln838Ter)	NC_000002.11:g.102488040C>T	VUS	1 lab	2dacbfcaab
19:11224318 LDLR A>G	19	11224318	11224318	A	G	LDLR	c.1466A>G	NM_000527.5	NP_000518.1:p.(Tyr489Cys)	NC_000019.9:g.11224318A>G	(Likely) pathogenic	1 lab	2dad7cef57
20:45354300 SLC2A10 C>T	20	45354300	45354300	C	T	SLC2A10	c.625C>T	NM_030777.4	NP_110404.1:p.(Leu209=)	NC_000020.10:g.45354300C>T	(Likely) benign	1 lab	2db887344f
15:89811688 FANCI A>T	15	89811688	89811688	A	T	FANCI	c.814A>T	NM_001113378.2	NP_001106849.1:p.(Ile272Phe)	NC_000015.9:g.89811688A>T	(Likely) benign	1 lab	2dba7a9784
6:112460374 LAMA4 A>G	6	112460374	112460374	A	G	LAMA4	c.3230T>C	NM_001105206.3	NP_001098676.2:p.(Ile1077Thr)	NC_000006.11:g.112460374A>G	VUS	1 lab	2dbcd4e31e
X:70443762 GJB1 T>C	X	70443762	70443762	T	C	GJB1	c.205T>C	NM_000166.6	NP_000157.1:p.(Phe69Leu)	NC_000023.10:g.70443762T>C	(Likely) pathogenic	1 lab	2dc545ef64
9:135204982 SETX T>C	9	135204982	135204982	T	C	SETX	c.2003A>G	NM_001351527.2	NP_001338456.1:p.(Asn668Ser)	NC_000009.11:g.135204982T>C	VUS	1 lab	2dc9b17879
20:13052982 SPTLC3 C>A	20	13052982	13052982	C	A	SPTLC3	c.382C>A	NM_018327.4	NP_060797.2:p.(Arg128=)	NC_000020.10:g.13052982C>A	(Likely) benign	1 lab	2dd5e59a75
16:905016 LMF1 G>A	16	905016	905016	G	A	LMF1	c.1131-310C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.905016G>A	(Likely) benign	1 lab	2dd6179cbf
2:179486198 TTN A>T	2	179486198	179486198	A	T	TTN	c.45349+4T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179486198A>T	(Likely) benign	1 lab	2dd75f4113
11:116661122 APOA5 G>A	11	116661122	116661122	G	A	APOA5	c.823C>T	NM_052968.5	NP_443200.2:p.(Gln275Ter)	NC_000011.9:g.116661122G>A	(Likely) pathogenic	1 lab	2ddc0b6086
8:145738177 RECQL4 C>T	8	145738177	145738177	C	T	RECQL4	c.2756-23G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738177C>T	(Likely) benign	1 lab	2ddc317917
4:16020034 PROM1 G>A	4	16020034	16020034	G	A	PROM1	c.887C>T	NM_001145847.2	NP_001139319.1:p.(Pro296Leu)	NC_000004.11:g.16020034G>A	VUS	1 lab	2ddd06b64d
8:18825884 MISSING Ref too long to show for this DEL>C	8	18825884	19364764	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.18825888_19364764del	VUS	1 lab	2dde5455b7
X:70443671 GJB1 G>GC	X	70443671	70443672	G	GC	GJB1	c.114_115insC	NM_000166.6	NP_000157.1:p.(Ala39ArgfsTer8)	NC_000023.10:g.70443671_70443672insC	(Likely) pathogenic	1 lab	2de3208a23
11:85346824 TMEM126B T>TATCATACCGTTCCACTGCCACCAA	11	85346824	85346826	T	TATCATACCGTTCCACTGCCACCAA	TMEM126B	c.419+3_419+4insTCATACCGTTCCACTGCCACCAAA	NM_001193538.3	NP_001180467.1:p.?	NC_000011.9:g.85346825_85346826insTCATACCGTTCCACTGCCACCAAA	VUS	1 lab	2de6dbc7ab
2:179597404 TTN G>A	2	179597404	179597404	G	A	TTN	c.12652C>T	NM_133378.4	NP_596869.4:p.(Leu4218=)	NC_000002.11:g.179597404G>A	(Likely) benign	1 lab	2de9746594
4:100512938 MTTP T>C	4	100512938	100512938	T	C	MTTP	c.749T>C	NM_000253.4	NP_000244.2:p.(Ile250Thr)	NC_000004.11:g.100512938T>C	VUS	1 lab	2dea65ae59
22:41605885 L3MBTL2 T>C	22	41605885	41605885	T	C	L3MBTL2	c.210T>C	NM_031488.5	NP_113676.2:p.(His70=)	NC_000022.10:g.41605885T>C	(Likely) benign	1 lab	2ded54f97a
1:12061492 MFN2 T>A	1	12061492	12061492	T	A	MFN2	c.851T>A	NM_014874.4	NP_055689.1:p.(Phe284Tyr)	NC_000001.10:g.12061492T>A	(Likely) pathogenic	1 lab	2dedd0a6c6
9:100616475 FOXE1 C>T	9	100616475	100616475	C	T	FOXE1	c.279C>T	NM_004473.4	NP_004464.2:p.(Asn93=)	NC_000009.11:g.100616475C>T	(Likely) benign	1 lab	2deef38944
18:47101956 LIPG T>C	18	47101956	47101956	T	C	LIPG	c.789T>C	NM_006033.4	NP_006024.1:p.(Tyr263=)	NC_000018.9:g.47101956T>C	(Likely) benign	1 lab	2def4a9ca3
11:47356214 MYBPC3 C>T	11	47356214	47356214	C	T	MYBPC3	c.2905+379G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356214C>T	(Likely) benign	1 lab	2df1e0d584
1:74833019 TNNI3K T>C	1	74833019	74833019	T	C	TNNI3K	c.1257T>C	NM_015978.3	NP_057062.1:p.(Pro419=)	NC_000001.10:g.74833019T>C	(Likely) benign	1 lab	2df3fdd756
20:57485765 GNAS C>T	20	57485765	57485765	C	T	GNAS	c.2995C>T	NM_080425.4	NP_536350.2:p.(Arg999Cys)	NC_000020.10:g.57485765C>T	VUS	1 lab	2dfb38c084
8:27041959 MISSING T>Alt too long to show for this DUP	8	27041959	27169822	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.27041961_27169822dup	VUS	1 lab	2dfb8b6cd4
11:62382122 ROM1 GC>G	11	62382122	62382123	GC	G	ROM1	c.868del	NM_000327.4	NP_000318.2:p.(Gln290LysfsTer26)	NC_000011.9:g.62382123del	(Likely) benign	1 lab	2dfe2ae729
9:35723811 TLN1 G>A	9	35723811	35723811	G	A	TLN1	c.782+138C>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35723811G>A	(Likely) benign	1 lab	2e014ab85c
22:30035220 NF2 C>A	22	30035220	30035220	C	A	NF2	c.363+19C>A	NM_000268.4	NP_000259.1:p.?	NC_000022.10:g.30035220C>A	(Likely) benign	1 lab	2e052b2a3f
11:46725946 ZNF408 G>A	11	46725946	46725946	G	A	ZNF408	c.696G>A	NM_024741.3	NP_079017.1:p.(Met232Ile)	NC_000011.9:g.46725946G>A	(Likely) benign	1 lab	2e05c84886
8:133984058 TG C>T	8	133984058	133984058	C	T	TG	c.5995C>T	NM_003235.5	NP_003226.4:p.(Arg1999Trp)	NC_000008.10:g.133984058C>T	(Likely) benign	1 lab	2e06ac8a1c
11:47367990 MYBPC3 C>T	11	47367990	47367990	C	T	MYBPC3	c.927-69G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367990C>T	VUS	1 lab	2e0801a334
2:179434845 TTN T>C	2	179434845	179434845	T	C	TTN	c.68310A>G	NM_133378.4	NP_596869.4:p.(Gly22770=)	NC_000002.11:g.179434845T>C	(Likely) benign	1 lab	2e108cdd91
4:16181255 TAPT1 A>G	4	16181255	16181255	A	G	TAPT1	c.942T>C	NM_153365.3	NP_699196.2:p.(Tyr314=)	NC_000004.11:g.16181255A>G	(Likely) benign	1 lab	2e1093d612
11:116661675 APOA5 C>T	11	116661675	116661675	C	T	APOA5	c.270G>A	NM_052968.5	NP_443200.2:p.(Val90=)	NC_000011.9:g.116661675C>T	VUS	1 lab	2e15eb46c6
6:162683814 PRKN TAA>T	6	162683814	162683835	TAA	T	PRKN	c.172-19_172-18del	NM_013987.3	NP_054642.2:p.?	NC_000006.11:g.162683834_162683835del	(Likely) benign	1 lab	2e1857b4c6
7:128479796 FLNC G>A	7	128479796	128479796	G	A	FLNC	c.1412-281G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128479796G>A	(Likely) benign	1 lab	2e19d286f4
2:179469767 TTN G>C	2	179469767	179469767	G	C	TTN	c.54137C>G	NM_001267550.2	NP_001254479.2:p.(Thr18046Ser)	NC_000002.11:g.179469767G>C	VUS	1 lab	2e1a729379
7:94042376 COL1A2 T>G	7	94042376	94042376	T	G	COL1A2	c.1504-19T>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94042376T>G	(Likely) benign	1 lab	2e1bc5da5a
15:31355362 TRPM1 C>T	15	31355362	31355362	C	T	TRPM1	c.975G>A	NM_001252020.2	NP_001238949.1:p.(Ser325=)	NC_000015.9:g.31355362C>T	(Likely) benign	1 lab	2e1bcd6cd0
15:85383637 ALPK3 G>A	15	85383637	85383637	G	A	ALPK3	c.1127G>A	NM_020778.5	NP_065829.4:p.(Arg376Gln)	NC_000015.9:g.85383637G>A	VUS	1 lab	2e1f142218
16:34549775 MISSING G>Alt too long to show for this DUP	16	34549775	34755816	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.34549776_34755816dup	(Likely) benign	1 lab	2e20a589d3
12:33030860 PKP2 G>C	12	33030860	33030860	G	C	PKP2	c.954C>G	NM_004572.4	NP_004563.2:p.(His318Gln)	NC_000012.11:g.33030860G>C	VUS	1 lab	2e20bef64b
6:16143897 MYLIP A>G	6	16143897	16143897	A	G	MYLIP	c.663-33A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16143897A>G	(Likely) benign	1 lab	2e2446fdcc
1:6149122 KCNAB2 G>A	1	6149122	6149122	G	A	KCNAB2	c.514+11G>A	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6149122G>A	(Likely) benign	1 lab	2e249c9f0d
4:166300469 CPE G>T	4	166300469	166300469	G	T	CPE	c.96G>T	NM_001873.4	NP_001864.1:p.(Ala32=)	NC_000004.11:g.166300469G>T	(Likely) benign	1 lab	2e250ed3ed
8:124117329 MISSING C>Alt too long to show for this DUP	8	124117329	124181257	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.124117332_124181257dup	VUS	1 lab	2e29fd667b
20:41312487 PTPRT Ref too long to show for this DEL>T	20	41312487	41351929	Ref too long to show for this DEL	T	PTPRT	c.859+33173_860-5689del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41312488_41351929del	VUS	1 lab	2e2b344ad6
16:67974738 LCAT CAA>C	16	67974738	67974758	CAA	C	LCAT	c.749-359_749-358del	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67974757_67974758del	(Likely) benign	1 lab	2e2bb974b1
9:107560789 ABCA1 C>T	9	107560789	107560789	C	T	ABCA1	c.5034G>A	NM_005502.4	NP_005493.2:p.(Gln1678=)	NC_000009.11:g.107560789C>T	(Likely) benign	1 lab	2e2cdd95e7
3:71026133 FOXP1 G>A	3	71026133	71026133	G	A	FOXP1	c.1486C>T	NM_001244808.3	NP_001231737.1:p.(Arg496Ter)	NC_000003.11:g.71026133G>A	(Likely) pathogenic	1 lab	2e2f2abbb9
9:32541627 TOPORS A>C	9	32541627	32541627	A	C	TOPORS	c.2896T>G	NM_005802.5	NP_005793.2:p.(Cys966Gly)	NC_000009.11:g.32541627A>C	VUS	1 lab	2e2fbb88ee
12:54370590 MISSING Ref too long to show for this DEL>A	12	54370590	54462464	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.54370591_54462464del	VUS	1 lab	2e3015b0fc
1:216419975 USH2A G>A	1	216419975	216419975	G	A	USH2A	c.2761C>T	NM_206933.4	NP_996816.3:p.(Leu921=)	NC_000001.10:g.216419975G>A	(Likely) benign	1 lab	2e30d20e28
19:50796904 MYH14 C>T	19	50796904	50796904	C	T	MYH14	c.5429C>T	NM_001145809.2	NP_001139281.1:p.(Ser1810Leu)	NC_000019.9:g.50796904C>T	VUS	1 lab	2e3122a5df
16:72133693 DHX38 C>T	16	72133693	72133693	C	T	DHX38	c.1023C>T	NM_014003.4	NP_054722.2:p.(Ala341=)	NC_000016.9:g.72133693C>T	(Likely) benign	1 lab	2e32908fc4
15:42695040 CAPN3 G>A	15	42695040	42695040	G	A	CAPN3	c.1585G>A	NM_000070.3	NP_000061.1:p.(Ala529Thr)	NC_000015.9:g.42695040G>A	VUS	1 lab	2e32cf4d08
X:135279037 FHL1 C>T	X	135279037	135279037	C	T	FHL1	c.-26-9529C>T	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135279037C>T	(Likely) benign	1 lab	2e358bb015
19:46287519 DMWD C>T	19	46287519	46287519	C	T	DMWD	c.2007G>A	NM_004943.2	NP_004934.1:p.(Pro669=)	NC_000019.9:g.46287519C>T	(Likely) benign	1 lab	2e36a7919b
2:39373100 MISSING Ref too long to show for this DEL>G	2	39373100	39536681	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.39373103_39536681del	VUS	1 lab	2e3ad4ccb0
X:73961054 NEXMIF T>G	X	73961054	73961054	T	G	NEXMIF	c.3338A>C	NM_001008537.3	NP_001008537.1:p.(Lys1113Thr)	NC_000023.10:g.73961054T>G	(Likely) benign	1 lab	2e3b654b48
19:49703663 TRPM4 C>T	19	49703663	49703663	C	T	TRPM4	c.2752C>T	NM_017636.4	NP_060106.2:p.(Pro918Ser)	NC_000019.9:g.49703663C>T	VUS	1 lab	2e3bdcfcbb
3:154802024 MME G>A	3	154802024	154802024	G	A	MME	c.68G>A	NM_007289.4	NP_009220.2:p.(Arg23Gln)	NC_000003.11:g.154802024G>A	VUS	1 lab	2e419a4bf5
2:21230333 APOB C>T	2	21230333	21230333	C	T	APOB	c.9407G>A	NM_000384.3	NP_000375.3:p.(Arg3136His)	NC_000002.11:g.21230333C>T	VUS	1 lab	2e42bf2ee2
5:90103446 ADGRV1 A>G	5	90103446	90103446	A	G	ADGRV1	c.14864A>G	NM_032119.4	NP_115495.3:p.(Gln4955Arg)	NC_000005.9:g.90103446A>G	VUS	1 lab	2e43abc89c
6:123673656 TRDN A>G	6	123673656	123673656	A	G	TRDN	c.*14T>C	NM_001251987.2	NP_001238916.1:p.?	NC_000006.11:g.123673656A>G	(Likely) benign	1 lab	2e453030f0
16:67976391 LCAT C>G	16	67976391	67976391	C	G	LCAT	c.623G>C	NM_000229.2	NP_000220.1:p.(Cys208Ser)	NC_000016.9:g.67976391C>G	VUS	1 lab	2e4570f463
9:137707160 COL5A1 C>T	9	137707160	137707160	C	T	COL5A1	c.4015-262C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137707160C>T	(Likely) benign	1 lab	2e45abede6
10:121432095 BAG3 C>T	10	121432095	121432095	C	T	BAG3	c.836C>T	NM_004281.4	NP_004272.2:p.(Ser279Leu)	NC_000010.10:g.121432095C>T	VUS	1 lab	2e46fd7480
X:46736939 RP2 G>C	X	46736939	46736939	G	C	RP2	c.884-1G>C	NM_006915.3	NP_008846.2:p.?	NC_000023.10:g.46736939G>C	(Likely) pathogenic	1 lab	2e47037b4e
11:63398674 ATL3 G>T	11	63398674	63398674	G	T	ATL3	c.1377C>A	NM_015459.5	NP_056274.3:p.(Gly459=)	NC_000011.9:g.63398674G>T	(Likely) benign	1 lab	2e47e381f3
17:7906476 GUCY2D G>A	17	7906476	7906476	G	A	GUCY2D	c.111G>A	NM_000180.4	NP_000171.1:p.(Pro37=)	NC_000017.10:g.7906476G>A	(Likely) benign	1 lab	2e4c231774
20:57415194 GNAS C>T	20	57415194	57415194	C	T	GNAS	c.33C>T	NM_016592.5	NP_057676.1:p.(Arg11=)	NC_000020.10:g.57415194C>T	(Likely) benign	1 lab	2e4ca7d92f
1:12064140 MFN2 C>T	1	12064140	12064140	C	T	MFN2	c.1252C>T	NM_014874.4	NP_055689.1:p.(Arg418Ter)	NC_000001.10:g.12064140C>T	(Likely) pathogenic	1 lab	2e4dcccc9c
9:139277994 SNAPC4 C>CGCTGCT	9	139277994	139278021	C	CGCTGCT	SNAPC4	c.1621_1626dup	NM_003086.3	NP_003077.2:p.(Ser541_Ser542dup)	NC_000009.11:g.139278016_139278021dup	(Likely) benign	1 lab	2e54f372e4
5:127624898 FBN2 T>C	5	127624898	127624898	T	C	FBN2	c.6558A>G	NM_001999.4	NP_001990.2:p.(Gln2186=)	NC_000005.9:g.127624898T>C	(Likely) benign	1 lab	2e58da7055
14:102909991 TECPR2 C>T	14	102909991	102909991	C	T	TECPR2	c.2760C>T	NM_014844.5	NP_055659.2:p.(Ser920=)	NC_000014.8:g.102909991C>T	(Likely) benign	1 lab	2e5b15a06b
16:30731637 SRCAP A>G	16	30731637	30731637	A	G	SRCAP	c.2972A>G	NM_006662.3	NP_006653.2:p.(Lys991Arg)	NC_000016.9:g.30731637A>G	VUS	1 lab	2e5bb0b573
9:111659439 ELP1 T>C	9	111659439	111659439	T	C	ELP1	c.2490A>G	NM_003640.5	NP_003631.2:p.(Ile830Met)	NC_000009.11:g.111659439T>C	(Likely) benign	1 lab	2e5fe44141
10:48388573 RBP3 A>G	10	48388573	48388573	A	G	RBP3	c.2305T>C	NM_002900.3	NP_002891.1:p.(Trp769Arg)	NC_000010.10:g.48388573A>G	VUS	1 lab	2e6182b69c
6:5507460 FARS2 G>Alt too long to show for this DUP	6	5507460	5667004	G	Alt too long to show for this DUP	FARS2	c.905-37952_1217+53451dup	NM_006567.5	NP_006558.1:p.?	NC_000006.11:g.5507461_5667004dup	VUS	1 lab	2e63eecf93
21:47704224 MCM3AP G>A	21	47704224	47704224	G	A	MCM3AP	c.977C>T	NM_003906.5	NP_003897.2:p.(Pro326Leu)	NC_000021.8:g.47704224G>A	VUS	1 lab	2e653631c8
5:76714063 PDE8B G>A	5	76714063	76714063	G	A	PDE8B	c.1921G>A	NM_003719.5	NP_003710.1:p.(Asp641Asn)	NC_000005.9:g.76714063G>A	(Likely) benign	1 lab	2e661c5e58
6:100841535 SIM1 G>A	6	100841535	100841535	G	A	SIM1	c.1398C>T	NM_005068.3	NP_005059.2:p.(Ala466=)	NC_000006.11:g.100841535G>A	(Likely) benign	1 lab	2e6a178c8e
12:21355633 SLCO1B1 C>T	12	21355633	21355633	C	T	SLCO1B1	c.1331+13C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21355633C>T	(Likely) benign	1 lab	2e6abdf8cc
4:22390767 ADGRA3 G>A	4	22390767	22390767	G	A	ADGRA3	c.2667C>T	NM_145290.4	NP_660333.2:p.(Cys889=)	NC_000004.11:g.22390767G>A	(Likely) benign	1 lab	2e6b9374f3
9:107564846 ABCA1 T>C	9	107564846	107564846	T	C	ABCA1	c.4593-406A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564846T>C	(Likely) benign	1 lab	2e6de7ea99
13:39448670 FREM2 T>C	13	39448670	39448670	T	C	FREM2	c.8228T>C	NM_207361.6	NP_997244.4:p.(Val2743Ala)	NC_000013.10:g.39448670T>C	VUS	1 lab	2e7032f5b9
12:79426248 SYT1 Ref too long to show for this DEL>C	12	79426248	79455920	Ref too long to show for this DEL	C	SYT1	c.-83-14827_-18+14778del	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79426250_79455920del	VUS	1 lab	2e72c60d50
11:107207141 MISSING Ref too long to show for this DEL>C	11	107207141	107378891	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.107207142_107378891del	VUS	1 lab	2e7fface6e
9:111668652 ELP1 C>T	9	111668652	111668652	C	T	ELP1	c.1574G>A	NM_003640.5	NP_003631.2:p.(Arg525Gln)	NC_000009.11:g.111668652C>T	(Likely) benign	1 lab	2e80f0b0bd
10:50833616 CHAT G>A	10	50833616	50833616	G	A	CHAT	c.604G>A	NM_001142933.2	NP_001136405.2:p.(Gly202Ser)	NC_000010.10:g.50833616G>A	(Likely) pathogenic	1 lab	2e82cb864b
11:47368515 MYBPC3 G>A	11	47368515	47368515	G	A	MYBPC3	c.908+63C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368515G>A	(Likely) benign	1 lab	2e84085238
2:179597013 TTN G>A	2	179597013	179597013	G	A	TTN	c.16683C>T	NM_001267550.2	NP_001254479.2:p.(Thr5561=)	NC_000002.11:g.179597013G>A	(Likely) benign	1 lab	2e8519210b
1:248059381 OR2W3 C>T	1	248059381	248059381	C	T	OR2W3	c.493C>T	NM_001001957.2	NP_001001957.2:p.(Arg165Cys)	NC_000001.10:g.248059381C>T	(Likely) benign	1 lab	2e8572dc67
1:6206306 CHD5 CT>C	1	6206306	6206307	CT	C	CHD5	c.1767del	NM_015557.3	NP_056372.1:p.(Glu590SerfsTer3)	NC_000001.10:g.6206307del	VUS	1 lab	2e87198aa0
11:47367877 MYBPC3 A>T	11	47367877	47367877	A	T	MYBPC3	c.971T>A	NM_000256.3	NP_000247.2:p.(Ile324Asn)	NC_000011.9:g.47367877A>T	VUS	1 lab	2e8a5ff1cf
11:1017833 MUC6 C>T	11	1017833	1017833	C	T	MUC6	c.4968G>A	NM_005961.3	NP_005952.2:p.(Pro1656=)	NC_000011.9:g.1017833C>T	(Likely) benign	1 lab	2e940abd1e
1:182442981 RGSL1 G>A	1	182442981	182442981	G	A	RGSL1	c.735G>A	NM_001137669.2	NP_001131141.1:p.(Arg245=)	NC_000001.10:g.182442981G>A	(Likely) benign	1 lab	2e971b94b4
2:179612471 TTN T>C	2	179612471	179612471	T	C	TTN	c.14656A>G	NM_133379.5	NP_596870.2:p.(Asn4886Asp)	NC_000002.11:g.179612471T>C	VUS	1 lab	2e99958d1a
14:53522426 DDHD1 G>A	14	53522426	53522426	G	A	DDHD1	c.2197C>T	NM_001160148.2	NP_001153620.1:p.(Arg733Ter)	NC_000014.8:g.53522426G>A	(Likely) pathogenic	1 lab	2ea0f6499b
2:21229483 APOB T>A	2	21229483	21229483	T	A	APOB	c.10257A>T	NM_000384.3	NP_000375.3:p.(Lys3419Asn)	NC_000002.11:g.21229483T>A	VUS	1 lab	2ea112b0e0
5:127598772 FBN2 T>A	5	127598772	127598772	T	A	FBN2	c.8192+345A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127598772T>A	(Likely) benign	1 lab	2ea394edd0
17:48270255 COL1A1 G>A	17	48270255	48270255	G	A	COL1A1	c.1822-44C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270255G>A	(Likely) benign	1 lab	2ea52a29ea
7:91630916 AKAP9 A>G	7	91630916	91630916	A	G	AKAP9	c.1685A>G	NM_005751.5	NP_005742.4:p.(His562Arg)	NC_000007.13:g.91630916A>G	(Likely) benign	1 lab	2eab26df0a
19:11217233 LDLR T>C	19	11217233	11217233	T	C	LDLR	c.695-8T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217233T>C	(Likely) benign	1 lab	2eadbf40b1
11:47357868 MYBPC3 G>A	11	47357868	47357868	G	A	MYBPC3	c.2603-306C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357868G>A	(Likely) benign	1 lab	2eae4624d6
2:1499979 TPO G>A	2	1499979	1499979	G	A	TPO	c.2215+10G>A	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1499979G>A	(Likely) benign	1 lab	2eb6cee059
9:107554296 ABCA1 G>A	9	107554296	107554296	G	A	ABCA1	c.5758-17C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554296G>A	(Likely) benign	1 lab	2eb7a0c3a9
1:12062040 MFN2 A>T	1	12062040	12062040	A	T	MFN2	c.1040A>T	NM_014874.4	NP_055689.1:p.(Glu347Val)	NC_000001.10:g.12062040A>T	(Likely) pathogenic	1 lab	2eb8ef5fb1
15:65917190 SLC24A1 A>G	15	65917190	65917190	A	G	SLC24A1	c.772A>G	NM_004727.3	NP_004718.1:p.(Thr258Ala)	NC_000015.9:g.65917190A>G	VUS	1 lab	2ebb2c98be
2:21230656 APOB C>G	2	21230656	21230656	C	G	APOB	c.9084G>C	NM_000384.3	NP_000375.3:p.(Lys3028Asn)	NC_000002.11:g.21230656C>G	VUS	1 lab	2ebbba3fa0
X:38129103 RPGR C>T	X	38129103	38129103	C	T	RPGR	c.2242-18G>A	NM_000328.3	NP_000319.1:p.?	NC_000023.10:g.38129103C>T	(Likely) benign	1 lab	2ebf926de0
1:240370341 FMN2 G>A	1	240370341	240370341	G	A	FMN2	c.2241G>A	NM_001305424.2	NP_001292353.1:p.(Ser747=)	NC_000001.10:g.240370341G>A	(Likely) benign	1 lab	2ebff23bc2
12:990084 WNK1 A>T	12	990084	990084	A	T	WNK1	c.3810A>T	NM_001184985.2	NP_001171914.1:p.(Val1270=)	NC_000012.11:g.990084A>T	(Likely) benign	1 lab	2ec020d156
8:10467993 RP1L1 G>A	8	10467993	10467993	G	A	RP1L1	c.3615C>T	NM_178857.6	NP_849188.4:p.(Ser1205=)	NC_000008.10:g.10467993G>A	(Likely) benign	1 lab	2ec1fdafc3
22:50682850 TUBGCP6 C>T	22	50682850	50682850	C	T	TUBGCP6	c.39G>A	NM_020461.4	NP_065194.3:p.(Glu13=)	NC_000022.10:g.50682850C>T	(Likely) benign	1 lab	2ec58f837a
X:154938689 MISSING A>Alt too long to show for this DUP	X	154938689	155193411	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154938690_155193411dup	(Likely) pathogenic	1 lab	2ec882cfcb
15:48779306 FBN1 G>T	15	48779306	48779306	G	T	FBN1	c.3555C>A	NM_000138.5	NP_000129.3:p.(Gly1185=)	NC_000015.9:g.48779306G>T	(Likely) benign	1 lab	2ec9a51237
2:44102330 ABCG8 G>A	2	44102330	44102330	G	A	ABCG8	c.1534G>A	NM_022437.3	NP_071882.1:p.(Gly512Arg)	NC_000002.11:g.44102330G>A	VUS	1 lab	2ecb1ad8c4
6:7575454 DSP A>G	6	7575454	7575454	A	G	DSP	c.2437-74A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575454A>G	(Likely) benign	1 lab	2ecbf8150b
5:127681257 FBN2 A>G	5	127681257	127681257	A	G	FBN2	c.3009T>C	NM_001999.4	NP_001990.2:p.(Cys1003=)	NC_000005.9:g.127681257A>G	(Likely) benign	1 lab	2ecf0b22e9
14:105174191 INF2 C>T	14	105174191	105174191	C	T	INF2	c.1587C>T	NM_022489.4	NP_071934.3:p.(Pro529=)	NC_000014.8:g.105174191C>T	(Likely) benign	1 lab	2ecf6a36bc
1:236894527 ACTN2 A>C	1	236894527	236894527	A	C	ACTN2	c.-206-6A>C	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236894527A>C	(Likely) benign	1 lab	2ed2d9bc64
7:128481370 FLNC T>C	7	128481370	128481370	T	C	FLNC	c.1960T>C	NM_001458.5	NP_001449.3:p.(Phe654Leu)	NC_000007.13:g.128481370T>C	VUS	1 lab	2ed3b53a79
12:56625068 SLC39A5 T>C	12	56625068	56625068	T	C	SLC39A5	c.10T>C	NM_173596.3	NP_775867.2:p.(Ser4Pro)	NC_000012.11:g.56625068T>C	(Likely) benign	1 lab	2ed3d85151
7:30054492 FKBP14 C>T	7	30054492	30054492	C	T	FKBP14	c.495G>A	NM_017946.4	NP_060416.1:p.(Lys165=)	NC_000007.13:g.30054492C>T	(Likely) benign	1 lab	2ed584d295
11:65180840 MISSING Ref too long to show for this DEL>A	11	65180840	65278373	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.65180841_65278373del	VUS	1 lab	2ed6261851
X:70443763 GJB1 T>TC	X	70443763	70443767	T	TC	GJB1	c.210dup	NM_000166.6	NP_000157.1:p.(Ile71HisfsTer39)	NC_000023.10:g.70443767dup	(Likely) pathogenic	1 lab	2ed796f85e
22:31346442 MORC2 AG>A	22	31346442	31346443	AG	A	MORC2	c.-29-12del	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31346443del	(Likely) benign	1 lab	2edcc08dc6
6:150710490 IYD G>A	6	150710490	150710490	G	A	IYD	c.181G>A	NM_001164694.2	NP_001158166.1:p.(Ala61Thr)	NC_000006.11:g.150710490G>A	(Likely) benign	1 lab	2edeb6307d
15:30904848 GOLGA8H C>T	15	30904848	30904848	C	T	GOLGA8H	c.1249C>T	NM_001282490.1	NP_001269419.1:p.(Leu417=)	NC_000015.9:g.30904848C>T	(Likely) benign	1 lab	2edf499555
1:215823955 USH2A G>A	1	215823955	215823955	G	A	USH2A	c.14322C>T	NM_206933.4	NP_996816.3:p.(Ser4774=)	NC_000001.10:g.215823955G>A	(Likely) benign	1 lab	2edf4a7f35
5:1470263 MISSING A>Alt too long to show for this DUP	5	1470263	1742742	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.1470264_1742742dup	VUS	1 lab	2ee3dcb02a
18:10705744 PIEZO2 G>A	18	10705744	10705744	G	A	PIEZO2	c.5250C>T	NM_022068.4	NP_071351.2:p.(Ser1750=)	NC_000018.9:g.10705744G>A	(Likely) benign	1 lab	2ee5e57f2b
2:179599525 TTN C>T	2	179599525	179599525	C	T	TTN	c.15126G>A	NM_001267550.2	NP_001254479.2:p.(Thr5042=)	NC_000002.11:g.179599525C>T	VUS	1 lab	2ee78ec128
2:189859345 COL3A1 G>A	2	189859345	189859345	G	A	COL3A1	c.1347+25G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859345G>A	(Likely) benign	1 lab	2ee8110379
1:228346300 GJC2 C>T	1	228346300	228346300	C	T	GJC2	c.841C>T	NM_020435.4	NP_065168.2:p.(Leu281Phe)	NC_000001.10:g.228346300C>T	VUS	1 lab	2ee8c6722e
7:26233292 HNRNPA2B1 G>A	7	26233292	26233292	G	A	HNRNPA2B1	c.780C>T	NM_031243.3	NP_112533.1:p.(Pro260=)	NC_000007.13:g.26233292G>A	(Likely) benign	1 lab	2eeaf9ab0e
16:57003380 CETP G>A	16	57003380	57003380	G	A	CETP	c.316G>A	NM_000078.3	NP_000069.2:p.(Val106Met)	NC_000016.9:g.57003380G>A	VUS	1 lab	2ef04a7aca
1:1374762 VWA1 G>A	1	1374762	1374762	G	A	VWA1	c.933G>A	NM_022834.5	NP_073745.2:p.(Ser311=)	NC_000001.10:g.1374762G>A	(Likely) benign	1 lab	2efc63e909
8:19809375 LPL A>C	8	19809375	19809375	A	C	LPL	c.345A>C	NM_000237.3	NP_000228.1:p.(Ser115=)	NC_000008.10:g.19809375A>C	(Likely) benign	1 lab	2f02aab4eb
X:100490926 DRP2 C>T	X	100490926	100490926	C	T	DRP2	c.195C>T	NM_001939.3	NP_001930.2:p.(Asn65=)	NC_000023.10:g.100490926C>T	(Likely) benign	1 lab	2f04d1cdc8
15:58833993 LIPC G>A	15	58833993	58833993	G	A	LIPC	c.283G>A	NM_000236.3	NP_000227.2:p.(Val95Met)	NC_000015.9:g.58833993G>A	(Likely) benign	1 lab	2f0794182e
6:56335920 DST A>G	6	56335920	56335920	A	G	DST	c.22305T>C	NM_001374736.1	NP_001361665.1:p.(Asp7435=)	NC_000006.11:g.56335920A>G	(Likely) benign	1 lab	2f090577cc
6:32035469 TNXB G>A	6	32035469	32035469	G	A	TNXB	c.6513C>T	NM_019105.8	NP_061978.6:p.(Arg2171=)	NC_000006.11:g.32035469G>A	(Likely) benign	1 lab	2f0996ec5c
2:179489307 TTN A>G	2	179489307	179489307	A	G	TTN	c.44700T>C	NM_001267550.2	NP_001254479.2:p.(Ile14900=)	NC_000002.11:g.179489307A>G	(Likely) benign	1 lab	2f0b7fcf55
2:73800021 ALMS1 C>A	2	73800021	73800021	C	A	ALMS1	c.11020C>A	NM_015120.4	NP_055935.4:p.(Leu3674Ile)	NC_000002.11:g.73800021C>A	(Likely) benign	1 lab	2f0d364ac3
11:9871780 SBF2 A>AGATT	11	9871780	9871802	A	AGATT	SBF2	c.2611-19_2611-16dup	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9871799_9871802dup	(Likely) benign	1 lab	2f10e5b333
2:179616350 TTN C>G	2	179616350	179616350	C	G	TTN	c.10777G>C	NM_133379.5	NP_596870.2:p.(Ala3593Pro)	NC_000002.11:g.179616350C>G	(Likely) benign	1 lab	2f10ef2213
18:19438608 MIB1 GTAA>G	18	19438608	19438615	GTAA	G	MIB1	c.2880+6_2880+8del	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19438613_19438615del	(Likely) benign	1 lab	2f11699fa7
15:48787445 FBN1 C>G	15	48787445	48787445	C	G	FBN1	c.2552G>C	NM_000138.5	NP_000129.3:p.(Gly851Ala)	NC_000015.9:g.48787445C>G	VUS	1 lab	2f1192e552
19:47259067 FKRP C>T	19	47259067	47259067	C	T	FKRP	c.360C>T	NM_001039885.3	NP_001034974.1:p.(Tyr120=)	NC_000019.9:g.47259067C>T	(Likely) benign	1 lab	2f129ec5df
2:224762493 MISSING C>Alt too long to show for this DUP	2	224762493	224845871	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.224762494_224845871dup	VUS	1 lab	2f13fbc914
8:10468647 RP1L1 C>G	8	10468647	10468647	C	G	RP1L1	c.2961G>C	NM_178857.6	NP_849188.4:p.(Leu987=)	NC_000008.10:g.10468647C>G	(Likely) benign	1 lab	2f168e018e
3:195506471 MUC4 ATAC>A	3	195506471	195506475	ATAC	A	MUC4	c.11977_11979del	NM_018406.7	NP_060876.5:p.(Val3993del)	NC_000003.11:g.195506473_195506475del	(Likely) benign	1 lab	2f1a214f50
9:133352352 ASS1 T>C	9	133352352	133352352	T	C	ASS1	c.688+4T>C	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133352352T>C	(Likely) benign	1 lab	2f1a430398
14:51054678 ATL1 G>A	14	51054678	51054678	G	A	ATL1	c.164G>A	NM_001127713.1	NP_001121185.1:p.(Arg55Gln)	NC_000014.8:g.51054678G>A	VUS	1 lab	2f1e9c5335
6:56371265 DST G>A	6	56371265	56371265	G	A	DST	c.13083C>T	NM_001144769.5	NP_001138241.1:p.(Ala4361=)	NC_000006.11:g.56371265G>A	(Likely) benign	1 lab	2f21419ba7
5:121409898 LOX G>A	5	121409898	121409898	G	A	LOX	c.879-34C>T	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121409898G>A	(Likely) benign	1 lab	2f23151981
22:37906240 CARD10 C>T	22	37906240	37906240	C	T	CARD10	c.888G>A	NM_014550.4	NP_055365.2:p.(Glu296=)	NC_000022.10:g.37906240C>T	(Likely) benign	1 lab	2f23df3b58
8:19818771 LPL A>AG	8	19818771	19818780	A	AG	LPL	c.1322+186dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818780dup	(Likely) benign	1 lab	2f245cff66
9:2060890 SMARCA2 G>C	9	2060890	2060890	G	C	SMARCA2	c.1596G>C	NM_003070.5	NP_003061.3:p.(Gln532His)	NC_000009.11:g.2060890G>C	(Likely) pathogenic	1 lab	2f2976f619
2:44051413 ABCG5 G>C	2	44051413	44051413	G	C	ABCG5	c.1063C>G	NM_022436.3	NP_071881.1:p.(Pro355Ala)	NC_000002.11:g.44051413G>C	VUS	1 lab	2f299a62ca
14:69520949 DCAF5 A>G	14	69520949	69520949	A	G	DCAF5	c.2454T>C	NM_003861.3	NP_003852.1:p.(Asp818=)	NC_000014.8:g.69520949A>G	(Likely) benign	1 lab	2f29a14e6c
2:134037475 NCKAP5 Ref too long to show for this DEL>C	2	134037475	134075032	Ref too long to show for this DEL	C	NCKAP5	c.70-14348_143+23133del	NM_207363.3	NP_997246.2:p.?	NC_000002.11:g.134037478_134075032del	VUS	1 lab	2f29dc9587
2:27684175 IFT172 G>A	2	27684175	27684175	G	A	IFT172	c.2403C>T	NM_015662.3	NP_056477.1:p.(His801=)	NC_000002.11:g.27684175G>A	(Likely) benign	1 lab	2f2a3ab4b4
10:73464754 CDH23 C>T	10	73464754	73464754	C	T	CDH23	c.2820C>T	NM_022124.6	NP_071407.4:p.(Ile940=)	NC_000010.10:g.73464754C>T	(Likely) benign	1 lab	2f2ad1d124
4:15504037 CC2D2A G>A	4	15504037	15504037	G	A	CC2D2A	c.248-15G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15504037G>A	(Likely) benign	1 lab	2f2f91f776
X:153130356 L1CAM T>C	X	153130356	153130356	T	C	L1CAM	c.2966A>G	NM_001278116.2	NP_001265045.1:p.(Tyr989Cys)	NC_000023.10:g.153130356T>C	VUS	1 lab	2f2ff9d523
9:107578454 ABCA1 A>G	9	107578454	107578454	A	G	ABCA1	c.3708T>C	NM_005502.4	NP_005493.2:p.(Ser1236=)	NC_000009.11:g.107578454A>G	(Likely) benign	1 lab	2f322a5e4b
14:76427138 TGFB3 C>T	14	76427138	76427138	C	T	TGFB3	c.1080+128G>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76427138C>T	(Likely) benign	1 lab	2f33e6e554
18:45377868 SMAD2 C>G	18	45377868	45377868	C	G	SMAD2	c.731-170G>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45377868C>G	(Likely) benign	1 lab	2f36bcf824
X:79286355 TBX22 AC>A	X	79286355	79286357	AC	A	TBX22	c.1310del	NM_001109878.2	NP_001103348.1:p.(Pro437LeufsTer49)	NC_000023.10:g.79286357del	(Likely) pathogenic	1 lab	2f37c39061
19:40900130 PRX G>A	19	40900130	40900130	G	A	PRX	c.4129C>T	NM_181882.3	NP_870998.2:p.(Arg1377Cys)	NC_000019.9:g.40900130G>A	VUS	1 lab	2f3cd11d8c
1:112319889 KCND3 C>T	1	112319889	112319889	C	T	KCND3	c.1525G>A	NM_004980.5	NP_004971.2:p.(Glu509Lys)	NC_000001.10:g.112319889C>T	VUS	1 lab	2f3cf5bc1d
15:63955406 HERC1 C>A	15	63955406	63955406	C	A	HERC1	c.8681-3G>T	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.63955406C>A	(Likely) benign	1 lab	2f45a11cf6
2:179428658 TTN T>C	2	179428658	179428658	T	C	TTN	c.82201A>G	NM_001267550.2	NP_001254479.2:p.(Asn27401Asp)	NC_000002.11:g.179428658T>C	VUS	1 lab	2f46b59e30
6:118880157 PLN C>G	6	118880157	118880157	C	G	PLN	c.73C>G	NM_002667.5	NP_002658.1:p.(Arg25Gly)	NC_000006.11:g.118880157C>G	VUS	1 lab	2f47297e7f
16:904559 LMF1 A>G	16	904559	904559	A	G	LMF1	c.1677T>C	NM_022773.4	NP_073610.2:p.(Arg559=)	NC_000016.9:g.904559A>G	(Likely) benign	1 lab	2f479bb86f
5:90072400 ADGRV1 A>G	5	90072400	90072400	A	G	ADGRV1	c.12527+7A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90072400A>G	(Likely) benign	1 lab	2f4d005405
8:119122306 EXT1 G>A	8	119122306	119122306	G	A	EXT1	c.962+18C>T	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.119122306G>A	(Likely) benign	1 lab	2f4d2d06fd
X:56591596 UBQLN2 C>G	X	56591596	56591596	C	G	UBQLN2	c.1290C>G	NM_013444.4	NP_038472.2:p.(Leu430=)	NC_000023.10:g.56591596C>G	VUS	1 lab	2f4d98bca4
4:6302954 WFS1 T>TGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCA	4	6302954	6302990	T	TGGCCCTACCTGAAGGTCCTTGGCCAGACCTTCATCA	WFS1	c.1433_1468dup	NM_006005.3	NP_005996.2:p.(Ile489_Thr490insArgProTyrLeuLysValLeuGlyGlnThrPheIle)	NC_000004.11:g.6302955_6302990dup	VUS	1 lab	2f4df04551
16:57005944 CETP C>G	16	57005944	57005944	C	G	CETP	c.699C>G	NM_000078.3	NP_000069.2:p.(Ser233=)	NC_000016.9:g.57005944C>G	(Likely) benign	1 lab	2f5356dc23
9:136221779 SURF1 G>C	9	136221779	136221779	G	C	SURF1	c.140C>G	NM_003172.4	NP_003163.1:p.(Ser47Cys)	NC_000009.11:g.136221779G>C	VUS	1 lab	2f5b61552a
19:47259611 FKRP G>A	19	47259611	47259611	G	A	FKRP	c.904G>A	NM_001039885.3	NP_001034974.1:p.(Gly302Ser)	NC_000019.9:g.47259611G>A	VUS	1 lab	2f673f7c5f
10:68138996 CTNNA3 T>A	10	68138996	68138996	T	A	CTNNA3	c.1646A>T	NM_013266.4	NP_037398.2:p.(His549Leu)	NC_000010.10:g.68138996T>A	VUS	1 lab	2f67464ac9
16:15865850 MYH11 G>A	16	15865850	15865850	G	A	MYH11	c.911-281C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15865850G>A	(Likely) benign	1 lab	2f675918e1
11:47370346 MYBPC3 C>T	11	47370346	47370346	C	T	MYBPC3	c.655-254G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370346C>T	(Likely) benign	1 lab	2f69211f13
17:59926622 BRIP1 T>C	17	59926622	59926622	T	C	BRIP1	c.380-5A>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59926622T>C	VUS	1 lab	2f6b3a6ec5
11:21281372 NELL1 Ref too long to show for this DEL>T	11	21281372	21519007	Ref too long to show for this DEL	T	NELL1	c.1549+30373_1646-36913del	NM_006157.5	NP_006148.2:p.?	NC_000011.9:g.21281373_21519007del	VUS	1 lab	2f6b49e7f5
19:11213412 LDLR G>A	19	11213412	11213412	G	A	LDLR	c.263G>A	NM_000527.5	NP_000518.1:p.(Arg88Lys)	NC_000019.9:g.11213412G>A	VUS	1 lab	2f6b99bb29
9:130241205 LRSAM1 C>G	9	130241205	130241205	C	G	LRSAM1	c.751-8C>G	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130241205C>G	(Likely) benign	1 lab	2f6e7e4d08
8:19818770 LPL CA>C	8	19818770	19818771	CA	C	LPL	c.1322+177del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818771del	(Likely) benign	1 lab	2f6fcd5ea8
2:179530193 TTN A>G	2	179530193	179530193	A	G	TTN	c.35960-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179530193A>G	(Likely) benign	1 lab	2f7477d687
1:211654576 RD3 C>T	1	211654576	211654576	C	T	RD3	c.182G>A	NM_183059.3	NP_898882.1:p.(Ser61Asn)	NC_000001.10:g.211654576C>T	(Likely) benign	1 lab	2f749ae47f
21:47542841 COL6A2 A>G	21	47542841	47542841	A	G	COL6A2	c.1661A>G	NM_058175.3	NP_478055.2:p.(Lys554Arg)	NC_000021.8:g.47542841A>G	VUS	1 lab	2f7bb0db15
16:70941381 HYDIN G>A	16	70941381	70941381	G	A	HYDIN	c.8410C>T	NM_001270974.2	NP_001257903.1:p.(Gln2804Ter)	NC_000016.9:g.70941381G>A	VUS	1 lab	2f7eefaa78
16:960590 LMF1 C>T	16	960590	960590	C	T	LMF1	c.264+341G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960590C>T	VUS	1 lab	2f80a83952
16:88799063 PIEZO1 G>T	16	88799063	88799063	G	T	PIEZO1	c.2742C>A	NM_001142864.4	NP_001136336.2:p.(Ala914=)	NC_000016.9:g.88799063G>T	(Likely) benign	1 lab	2f81d20f41
5:133948412 SAR1B A>G	5	133948412	133948412	A	G	SAR1B	c.213T>C	NM_001033503.3	NP_001028675.1:p.(Phe71=)	NC_000005.9:g.133948412A>G	(Likely) benign	1 lab	2f824c0134
4:128812230 PLK4 G>GT	4	128812230	128812244	G	GT	PLK4	c.1831-3dup	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128812244dup	(Likely) benign	1 lab	2f8351d264
15:45392390 DUOX2 C>T	15	45392390	45392390	C	T	DUOX2	c.3042G>A	NM_014080.5	NP_054799.4:p.(Ala1014=)	NC_000015.9:g.45392390C>T	(Likely) benign	1 lab	2f837dd2d7
15:72023483 THSD4 A>T	15	72023483	72023483	A	T	THSD4	c.1557A>T	NM_024817.2	NP_079093.2:p.(Pro519=)	NC_000015.9:g.72023483A>T	(Likely) benign	1 lab	2f8bc2609e
2:27693981 IFT172 G>A	2	27693981	27693981	G	A	IFT172	c.1525-19C>T	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27693981G>A	(Likely) benign	1 lab	2f8d48a04b
3:38598407 SCN5A G>A	3	38598407	38598407	G	A	SCN5A	c.4299+315C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38598407G>A	(Likely) benign	1 lab	2f8e8e99dc
2:21250239 APOB A>T	2	21250239	21250239	A	T	APOB	c.2068-403T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250239A>T	(Likely) benign	1 lab	2f92f8ef07
12:8807120 MFAP5 T>C	12	8807120	8807120	T	C	MFAP5	c.173-43A>G	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8807120T>C	(Likely) benign	1 lab	2f93facb21
3:38591811 SCN5A C>T	3	38591811	38591811	C	T	SCN5A	c.*1G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38591811C>T	(Likely) benign	1 lab	2f962c2ec2
7:124464037 POT1 T>G	7	124464037	124464037	T	G	POT1	c.1884A>C	NM_015450.3	NP_056265.2:p.(Thr628=)	NC_000007.13:g.124464037T>G	(Likely) benign	1 lab	2f98e57fe6
5:36671161 SLC1A3 G>A	5	36671161	36671161	G	A	SLC1A3	c.350G>A	NM_004172.5	NP_004163.3:p.(Gly117Glu)	NC_000005.9:g.36671161G>A	VUS	1 lab	2f9b7ea387
19:11223663 LDLR CTTT>C	19	11223663	11223685	CTTT	C	LDLR	c.1187-271_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223683_11223685del	(Likely) benign	1 lab	2f9f4a2c47
X:2856254 ARSL C>T	X	2856254	2856254	C	T	ARSL	c.1246G>A	NM_001282628.2	NP_001269557.1:p.(Gly416Arg)	NC_000023.10:g.2856254C>T	(Likely) pathogenic	1 lab	2fa234c789
1:74716354 TNNI3K A>G	1	74716354	74716354	A	G	TNNI3K	c.236-2A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74716354A>G	VUS	1 lab	2fa39c6865
7:107543976 DLD A>G	7	107543976	107543976	A	G	DLD	c.321A>G	NM_000108.5	NP_000099.2:p.(Ala107=)	NC_000007.13:g.107543976A>G	(Likely) benign	1 lab	2fa3ad4919
7:73467651 ELN T>TTG	7	73467651	73467652	T	TTG	ELN	c.1096+12_1096+13insTG	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467651_73467652insTG	(Likely) benign	1 lab	2fa4a425f9
19:1219380 STK11 G>A	19	1219380	1219380	G	A	STK11	c.432G>A	NM_000455.5	NP_000446.1:p.(Pro144=)	NC_000019.9:g.1219380G>A	(Likely) benign	1 lab	2fa5c737f3
8:87680406 CNGB3 GA>G	8	87680406	87680417	GA	G	CNGB3	c.494-11del	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87680417del	(Likely) benign	1 lab	2fa8746e1b
1:26385129 TRIM63 C>A	1	26385129	26385129	C	A	TRIM63	c.598-15G>T	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26385129C>A	(Likely) benign	1 lab	2faaa1b28e
3:38640519 SCN5A C>T	3	38640519	38640519	C	T	SCN5A	c.1913G>A	NM_198056.3	NP_932173.1:p.(Gly638Asp)	NC_000003.11:g.38640519C>T	VUS	1 lab	2faaa8568a
2:219677302 CYP27A1 G>A	2	219677302	219677302	G	A	CYP27A1	c.674G>A	NM_000784.4	NP_000775.1:p.(Arg225His)	NC_000002.11:g.219677302G>A	VUS	1 lab	2fac6156fb
2:179567170 TTN A>C	2	179567170	179567170	A	C	TTN	c.30433+11T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179567170A>C	(Likely) benign	1 lab	2fb1777887
11:40162405 LRRC4C TAA>T	11	40162405	40162421	TAA	T	LRRC4C	c.-95-4_-95-3del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40162420_40162421del	(Likely) benign	1 lab	2fbc453fae
10:69902807 MYPN G>A	10	69902807	69902807	G	A	MYPN	c.1013G>A	NM_032578.4	NP_115967.2:p.(Arg338His)	NC_000010.10:g.69902807G>A	VUS	1 lab	2fc4d1ca39
2:167141211 SCN9A T>C	2	167141211	167141211	T	C	SCN9A	c.1726A>G	NM_002977.3	NP_002968.1:p.(Ser576Gly)	NC_000002.11:g.167141211T>C	VUS	1 lab	2fc9ff267e
15:48779506 FBN1 T>C	15	48779506	48779506	T	C	FBN1	c.3463+3A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779506T>C	(Likely) benign	1 lab	2fcb01bf90
1:21902230 ALPL C>T	1	21902230	21902230	C	T	ALPL	c.1002C>T	NM_000478.6	NP_000469.3:p.(Gly334=)	NC_000001.10:g.21902230C>T	(Likely) benign	1 lab	2fce7cd060
19:11226841 LDLR A>G	19	11226841	11226841	A	G	LDLR	c.1658A>G	NM_000527.5	NP_000518.1:p.(Tyr553Cys)	NC_000019.9:g.11226841A>G	(Likely) benign	1 lab	2fce7e5387
9:107624097 ABCA1 G>A	9	107624097	107624097	G	A	ABCA1	c.422-16C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624097G>A	(Likely) benign	1 lab	2fd01f3e0f
15:58840657 LIPC T>C	15	58840657	58840657	T	C	LIPC	c.937T>C	NM_000236.3	NP_000227.2:p.(Cys313Arg)	NC_000015.9:g.58840657T>C	VUS	1 lab	2fd1a71713
15:58834868 LIPC C>T	15	58834868	58834868	C	T	LIPC	c.574+18C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834868C>T	(Likely) benign	1 lab	2fd2c983aa
1:19609137 MISSING Ref too long to show for this DEL>A	1	19609137	19619641	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.19609140_19619641del	VUS	1 lab	2fd372212e
1:12018557 PLOD1 G>A	1	12018557	12018557	G	A	PLOD1	c.844-16G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12018557G>A	(Likely) benign	1 lab	2fd40d4515
8:19796553 LPL A>C	8	19796553	19796553	A	C	LPL				NC_000008.10:g.19796553A>C	(Likely) benign	1 lab	2fd45e0b2c
7:94035590 COL1A2 G>T	7	94035590	94035590	G	T	COL1A2	c.569G>T	NM_000089.4	NP_000080.2:p.(Gly190Val)	NC_000007.13:g.94035590G>T	(Likely) pathogenic	1 lab	2fda215c52
2:238303387 COL6A3 C>T	2	238303387	238303387	C	T	COL6A3	c.552G>A	NM_004369.4	NP_004360.2:p.(Ala184=)	NC_000002.11:g.238303387C>T	(Likely) benign	1 lab	2fdc6bc49c
2:233199473 DIS3L2 G>A	2	233199473	233199473	G	A	DIS3L2	c.2394+28G>A	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233199473G>A	(Likely) benign	1 lab	2fde8f3b9d
2:131438436 CYP4F30P G>C	2	131438436	131438436	G	C	CYP4F30P	n.813+1G>C	NR_023391.1		NC_000002.11:g.131438436G>C	(Likely) benign	1 lab	2fe4acbb4e
14:50605507 SOS2 T>TA	14	50605507	50605520	T	TA	SOS2	c.2786-6dup	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50605520dup	(Likely) benign	1 lab	2fe51bcc54
1:119457565 MISSING Ref too long to show for this DEL>A	1	119457565	119850520	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.119457567_119850520del	VUS	1 lab	2fe5256c4b
X:49067032 CACNA1F G>T	X	49067032	49067032	G	T	CACNA1F	c.4518+18C>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49067032G>T	(Likely) benign	1 lab	2fe5bb3285
X:32632490 DMD GTTCT>G	X	32632490	32632499	GTTCT	G	DMD	c.1408_1411del	NM_004006.3	NP_003997.2:p.(Arg470GlnfsTer16)	NC_000023.10:g.32632496_32632499del	(Likely) pathogenic	1 lab	2feadc8734
15:67376408 SMAD3 CTT>C	15	67376408	67376431	CTT	C	SMAD3	c.206+17732_206+17733del	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67376430_67376431del	(Likely) benign	1 lab	2feb8a0350
7:20624668 MISSING Ref too long to show for this DEL>C	7	20624668	20658209	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.20624669_20658209del	VUS	1 lab	2fec755890
6:64498024 EYS C>T	6	64498024	64498024	C	T	EYS	c.7697G>A	NM_001142800.2	NP_001136272.1:p.(Gly2566Glu)	NC_000006.11:g.64498024C>T	(Likely) benign	1 lab	2ff88b2a46
10:69966513 MYPN C>T	10	69966513	69966513	C	T	MYPN	c.3660-14C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69966513C>T	(Likely) benign	1 lab	2ff96196ad
16:89352678 ANKRD11 G>A	16	89352678	89352678	G	A	ANKRD11	c.745-84C>T	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89352678G>A	(Likely) benign	1 lab	2ffd5a4e1b
1:155209527 GBA1 G>T	1	155209527	155209527	G	T	GBA1	c.334C>A	NM_001005741.3	NP_001005741.1:p.(Gln112Lys)	NC_000001.10:g.155209527G>T	VUS	1 lab	3008a2d3b3
2:44101061 ABCG8 C>T	2	44101061	44101061	C	T	ABCG8	c.1347C>T	NM_022437.3	NP_071882.1:p.(Ala449=)	NC_000002.11:g.44101061C>T	(Likely) benign	1 lab	300b13b2c0
7:92120569 PEX1 A>G	7	92120569	92120569	A	G	PEX1	c.2814+17T>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92120569A>G	(Likely) benign	1 lab	300ce889e8
7:69364338 AUTS2 C>T	7	69364338	69364338	C	T	AUTS2	c.376C>T	NM_001127231.3	NP_001120703.1:p.(Arg126Ter)	NC_000007.13:g.69364338C>T	VUS	1 lab	300cee4d3d
9:137726806 COL5A1 T>C	9	137726806	137726806	T	C	COL5A1	c.5137-11T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137726806T>C	(Likely) benign	1 lab	300d85a3d2
19:5843822 FUT3 T>C	19	5843822	5843822	T	C	FUT3	c.1029A>G	NM_000149.4	NP_000140.1:p.(Lys343=)	NC_000019.9:g.5843822T>C	(Likely) benign	1 lab	300eb838fa
1:55527158 PCSK9 G>A	1	55527158	55527158	G	A	PCSK9	c.1792G>A	NM_174936.4	NP_777596.2:p.(Ala598Thr)	NC_000001.10:g.55527158G>A	VUS	1 lab	3010d510b6
3:160142810 SMC4 A>ATGTGTGTGTGTG	3	160142810	160142841	A	ATGTGTGTGTGTG	SMC4	c.2478+23_2478+34dup	NM_001002800.3	NP_001002800.1:p.?	NC_000003.11:g.160142830_160142841dup	(Likely) benign	1 lab	30199eaf42
2:220494849 SLC4A3 C>T	2	220494849	220494849	C	T	SLC4A3	c.667C>T	NM_201574.3	NP_963868.3:p.(Pro223Ser)	NC_000002.11:g.220494849C>T	(Likely) benign	1 lab	3019e41a5c
2:152350734 NEB C>T	2	152350734	152350734	C	T	NEB	c.24625G>A	NM_001271208.2	NP_001258137.2:p.(Ala8209Thr)	NC_000002.11:g.152350734C>T	VUS	1 lab	301b78dfbe
2:21232969 APOB T>G	2	21232969	21232969	T	G	APOB	c.6771A>C	NM_000384.3	NP_000375.3:p.(Gln2257His)	NC_000002.11:g.21232969T>G	(Likely) benign	1 lab	301caa7cf4
7:154237598 DPP6 T>C	7	154237598	154237598	T	C	DPP6	c.458-19T>C	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154237598T>C	(Likely) benign	1 lab	301d812288
10:112572335 RBM20 CAGA>C	10	112572335	112572340	CAGA	C	RBM20	c.2183_2185del	NM_001134363.3	NP_001127835.2:p.(Glu728del)	NC_000010.10:g.112572338_112572340del	VUS	1 lab	3020a18c2b
9:137624005 COL5A1 C>T	9	137624005	137624005	C	T	COL5A1	c.1389+32C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137624005C>T	(Likely) benign	1 lab	3020ea3f41
12:6950804 GNB3 C>G	12	6950804	6950804	C	G	GNB3	c.96+16C>G	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6950804C>G	(Likely) benign	1 lab	3022185dd9
2:189863939 COL3A1 T>C	2	189863939	189863939	T	C	COL3A1	c.2023-72T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863939T>C	(Likely) benign	1 lab	3023a46624
11:95578330 MTMR2 A>C	11	95578330	95578330	A	C	MTMR2	c.964-7T>G	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95578330A>C	(Likely) benign	1 lab	3024128641
14:103125450 MISSING Ref too long to show for this DEL>T	14	103125450	105543486	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.103125453_105543486del	(Likely) pathogenic	1 lab	30250f625b
16:961089 LMF1 C>T	16	961089	961089	C	T	LMF1	c.515-10G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.961089C>T	(Likely) benign	1 lab	302b562b92
12:32948907 PKP2 T>A	12	32948907	32948907	T	A	PKP2	c.2489+136A>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32948907T>A	(Likely) benign	1 lab	302ea57f54
5:126239034 MISSING Ref too long to show for this DEL>A	5	126239034	126436725	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.126239037_126436725del	VUS	1 lab	30313a62a1
4:6302860 WFS1 C>T	4	6302860	6302860	C	T	WFS1	c.1338C>T	NM_006005.3	NP_005996.2:p.(Ser446=)	NC_000004.11:g.6302860C>T	(Likely) benign	1 lab	30347454cd
4:56212498 SRD5A3 C>T	4	56212498	56212498	C	T	SRD5A3	c.-6C>T	NM_024592.5	NP_078868.1:p.?	NC_000004.11:g.56212498C>T	(Likely) benign	1 lab	3036463bde
18:47095580 LIPG C>T	18	47095580	47095580	C	T	LIPG	c.460-227C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095580C>T	(Likely) benign	1 lab	30391d34d3
10:64573256 EGR2 C>T	10	64573256	64573256	C	T	EGR2	c.1142G>A	NM_000399.5	NP_000390.2:p.(Arg381His)	NC_000010.10:g.64573256C>T	(Likely) pathogenic	1 lab	303b8891e0
15:85360767 ALPK3 C>A	15	85360767	85360767	C	A	ALPK3	c.84C>A	NM_020778.5	NP_065829.4:p.(Pro28=)	NC_000015.9:g.85360767C>A	(Likely) benign	1 lab	303d89779b
1:103472082 COL11A1 AT>A	1	103472082	103472111	AT	A	COL11A1	c.1684-212del	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103472111del	(Likely) benign	1 lab	303f9eb1b6
2:202574589 ALS2 G>A	2	202574589	202574589	G	A	ALS2	c.4280+15C>T	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202574589G>A	(Likely) benign	1 lab	30434c6ea5
14:64508741 SYNE2 Ref too long to show for this DEL>C	14	64508741	64567217	Ref too long to show for this DEL	C	SYNE2	c.7222-5976_12382-1433del	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64508742_64567217del	VUS	1 lab	3043bed386
22:51159953 SHANK3 G>A	22	51159953	51159953	G	A	SHANK3	c.3917G>A	NM_001372044.2	NP_001358973.1:p.(Arg1306His)	NC_000022.10:g.51159953G>A	(Likely) benign	1 lab	3045339a79
X:79990674 BRWD3 C>T	X	79990674	79990674	C	T	BRWD3	c.937G>A	NM_153252.5	NP_694984.5:p.(Glu313Lys)	NC_000023.10:g.79990674C>T	VUS	1 lab	3045ec831e
11:47371952 MYBPC3 T>C	11	47371952	47371952	T	C	MYBPC3	c.406+101A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371952T>C	(Likely) benign	1 lab	304788caae
14:23862195 MYH6 G>T	14	23862195	23862195	G	T	MYH6	c.3177C>A	NM_002471.4	NP_002462.2:p.(Gly1059=)	NC_000014.8:g.23862195G>T	(Likely) benign	1 lab	305e5391e7
9:27203002 TEK G>A	9	27203002	27203002	G	A	TEK	c.2094G>A	NM_000459.5	NP_000450.3:p.(Gln698=)	NC_000009.11:g.27203002G>A	(Likely) benign	1 lab	304a0fb0fc
11:76841670 MYO7A G>A	11	76841670	76841670	G	A	MYO7A	c.-11G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76841670G>A	(Likely) benign	1 lab	304ed37e8f
15:85410462 ALPK3 GCC>G	15	85410462	85410464	GCC	G	ALPK3	c.4724-85_4724-84del	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410463_85410464del	(Likely) benign	1 lab	304f093ca1
8:144298868 GPIHBP1 C>G	8	144298868	144298868	C	G	GPIHBP1	c.376-17C>G	NM_001301772.2	NP_001288701.1:p.?	NC_000008.10:g.144298868C>G	(Likely) benign	1 lab	3053b8b1f8
19:11216167 LDLR C>T	19	11216167	11216167	C	T	LDLR	c.585C>T	NM_000527.5	NP_000518.1:p.(Ser195=)	NC_000019.9:g.11216167C>T	(Likely) benign	1 lab	3054ba67de
2:21234982 APOB C>T	2	21234982	21234982	C	T	APOB	c.4758G>A	NM_000384.3	NP_000375.3:p.(Lys1586=)	NC_000002.11:g.21234982C>T	(Likely) benign	1 lab	3055ed6c99
12:112856950 PTPN11 C>A	12	112856950	112856950	C	A	PTPN11	c.14+21C>A	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112856950C>A	(Likely) benign	1 lab	3057c265c9
19:11224092 LDLR A>G	19	11224092	11224092	A	G	LDLR	c.1325A>G	NM_000527.5	NP_000518.1:p.(Tyr442Cys)	NC_000019.9:g.11224092A>G	(Likely) pathogenic	1 lab	3057ea26c0
15:58855753 LIPC G>A	15	58855753	58855753	G	A	LIPC	c.1219G>A	NM_000236.3	NP_000227.2:p.(Asp407Asn)	NC_000015.9:g.58855753G>A	VUS	1 lab	305b469e52
13:32910700 BRCA2 A>C	13	32910700	32910700	A	C	BRCA2	c.2208A>C	NM_000059.4	NP_000050.3:p.(Ala736=)	NC_000013.10:g.32910700A>C	(Likely) benign	1 lab	305d95e5f7
7:37252929 ELMO1 T>C	7	37252929	37252929	T	C	ELMO1	c.954+11A>G	NM_001206482.2	NP_001193411.1:p.?	NC_000007.13:g.37252929T>C	(Likely) benign	1 lab	305ddc3366
8:1871989 ARHGEF10 G>T	8	1871989	1871989	G	T	ARHGEF10	c.2437G>T	NM_014629.4	NP_055444.2:p.(Ala813Ser)	NC_000008.10:g.1871989G>T	VUS	1 lab	30d22cfbf0
16:70365068 MISSING T>Alt too long to show for this DUP	16	70365068	70398722	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70365072_70398722dup	VUS	1 lab	305e5d0205
17:41242938 BRCA1 GCA>G	17	41242938	41242951	GCA	G	BRCA1	c.4185+21_4185+22del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242950_41242951del	(Likely) benign	1 lab	305ec12797
1:55511995 PCSK9 A>G	1	55511995	55511995	A	G	PCSK9	c.400-201A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55511995A>G	(Likely) benign	1 lab	30617ff08f
1:878664 SAMD11 G>A	1	878664	878664	G	A	SAMD11	c.1596G>A	NM_152486.4	NP_689699.3:p.(Glu532=)	NC_000001.10:g.878664G>A	(Likely) benign	1 lab	3063412074
10:124221275 HTRA1 G>A	10	124221275	124221275	G	A	HTRA1	c.107G>A	NM_002775.5	NP_002766.1:p.(Gly36Glu)	NC_000010.10:g.124221275G>A	(Likely) benign	1 lab	306692ca2a
5:180046043 FLT4 C>G	5	180046043	180046043	C	G	FLT4	c.2828G>C	NM_182925.5	NP_891555.2:p.(Arg943Pro)	NC_000005.9:g.180046043C>G	(Likely) pathogenic	1 lab	306efd1e2d
4:190876278 FRG1 G>A	4	190876278	190876278	G	A	FRG1	c.404G>A	NM_004477.3	NP_004468.1:p.(Arg135Lys)	NC_000004.11:g.190876278G>A	(Likely) benign	1 lab	306f77107a
1:236900597 ACTN2 G>GTATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATA	(Likely) benign	1 lab	30725521de
5:10256172 CCT5 A>T	5	10256172	10256172	A	T	CCT5	c.272A>T	NM_001306154.2	NP_001293083.1:p.(Glu91Val)	NC_000005.9:g.10256172A>T	(Likely) benign	1 lab	307642b932
11:116706814 APOA1 T>C	11	116706814	116706814	T	C	APOA1	c.514A>G	NM_000039.3	NP_000030.1:p.(Met172Val)	NC_000011.9:g.116706814T>C	VUS	1 lab	3076cde9a0
1:156106102 LMNA C>T	1	156106102	156106102	C	T	LMNA	c.1255C>T	NM_170707.4	NP_733821.1:p.(Arg419Cys)	NC_000001.10:g.156106102C>T	VUS	1 lab	3080592695
1:3335320 PRDM16 G>A	1	3335320	3335320	G	A	PRDM16	c.2939+12G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3335320G>A	(Likely) benign	1 lab	308560c246
10:73491736 C10orf105 T>C	10	73491736	73491736	T	C	C10orf105	c.-6+5749A>G	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73491736T>C	(Likely) benign	1 lab	3087745ae8
2:179404631 TTN C>T	2	179404631	179404631	C	T	TTN	c.98161G>A	NM_001267550.2	NP_001254479.2:p.(Val32721Ile)	NC_000002.11:g.179404631C>T	VUS	1 lab	308b107fc2
4:100530033 MTTP C>T	4	100530033	100530033	C	T	MTTP	c.1668C>T	NM_000253.4	NP_000244.2:p.(Asp556=)	NC_000004.11:g.100530033C>T	(Likely) benign	1 lab	308bf0048d
14:89338789 TTC8 T>A	14	89338789	89338789	T	A	TTC8	c.746T>A	NM_001288782.1	NP_001275711.1:p.(Val249Asp)	NC_000014.8:g.89338789T>A	VUS	1 lab	30916bd929
3:38637593 SCN5A T>C	3	38637593	38637593	T	C	SCN5A	c.2262+1627A>G	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38637593T>C	(Likely) benign	1 lab	30937f024d
12:32974118 PKP2 C>T	12	32974118	32974118	C	T	PKP2	c.2145+172G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32974118C>T	(Likely) benign	1 lab	3093d60504
15:62254989 VPS13C T>C	15	62254989	62254989	T	C	VPS13C	c.3394A>G	NM_001018088.3	NP_001018098.1:p.(Ile1132Val)	NC_000015.9:g.62254989T>C	(Likely) benign	1 lab	309b55ef04
8:100286574 VPS13B G>A	8	100286574	100286574	G	A	VPS13B	c.2650+14G>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100286574G>A	(Likely) benign	1 lab	309c6de97c
6:32489940 HLA-DRB5 G>A	6	32489940	32489940	G	A	HLA-DRB5	c.112C>T	NM_002125.4	NP_002116.2:p.(Gln38Ter)	NC_000006.11:g.32489940G>A	(Likely) benign	1 lab	309f5b9c6c
19:14211397 MISSING A>Alt too long to show for this DUP	19	14211397	14643435	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.14211399_14643435dup	VUS	1 lab	309ffede53
6:79695110 PHIP G>A	6	79695110	79695110	G	A	PHIP	c.2496C>T	NM_017934.7	NP_060404.4:p.(Ser832=)	NC_000006.11:g.79695110G>A	(Likely) benign	1 lab	30a052a73c
9:27229816 MISSING Ref too long to show for this DEL>T	9	27229816	27257570	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.27229818_27257570del	VUS	1 lab	30a08207fa
5:32780859 NPR3 C>T	5	32780859	32780859	C	T	NPR3	c.1227C>T	NM_001204375.2	NP_001191304.1:p.(Asn409=)	NC_000005.9:g.32780859C>T	(Likely) benign	1 lab	30a0f009b9
11:58892487 FAM111B A>G	11	58892487	58892487	A	G	FAM111B	c.917A>G	NM_198947.4	NP_945185.1:p.(His306Arg)	NC_000011.9:g.58892487A>G	(Likely) benign	1 lab	30a1a62679
10:12150026 DHTKD1 G>A	10	12150026	12150026	G	A	DHTKD1	c.2154+12G>A	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12150026G>A	(Likely) benign	1 lab	30a94c908c
1:12058934 MFN2 C>T	1	12058934	12058934	C	T	MFN2	c.707C>T	NM_014874.4	NP_055689.1:p.(Thr236Met)	NC_000001.10:g.12058934C>T	(Likely) pathogenic	1 lab	30aa6009d3
2:179440297 TTN G>C	2	179440297	179440297	G	C	TTN	c.70562C>G	NM_001267550.2	NP_001254479.2:p.(Thr23521Arg)	NC_000002.11:g.179440297G>C	VUS	1 lab	30aa6116aa
14:74974697 LTBP2 G>T	14	74974697	74974697	G	T	LTBP2	c.3754C>A	NM_000428.3	NP_000419.1:p.(Pro1252Thr)	NC_000014.8:g.74974697G>T	VUS	1 lab	30abcbe2d3
22:19753350 TBX1 T>C	22	19753350	19753350	T	C	TBX1	c.908+2T>C	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19753350T>C	(Likely) pathogenic	1 lab	30ad9a3d0f
15:85370526 ALPK3 C>G	15	85370526	85370526	C	G	ALPK3	c.183-189C>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85370526C>G	(Likely) benign	1 lab	30ae567910
22:42462695 NAGA A>AG	22	42462695	42462700	A	AG	NAGA	c.597+18dup	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42462700dup	(Likely) benign	1 lab	30b340182d
19:13397712 CACNA1A T>C	19	13397712	13397712	T	C	CACNA1A	c.3170A>G	NM_023035.3	NP_075461.2:p.(Asp1057Gly)	NC_000019.9:g.13397712T>C	(Likely) benign	1 lab	30b38972cb
6:24505104 ALDH5A1 TC>T	6	24505104	24505108	TC	T	ALDH5A1	c.621del	NM_170740.1	NP_733936.1:p.(Ser208ValfsTer3)	NC_000006.11:g.24505108del	(Likely) pathogenic	1 lab	30b60dbc10
9:107591185 ABCA1 A>C	9	107591185	107591185	A	C	ABCA1	c.2115+12T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591185A>C	(Likely) benign	1 lab	30b6b2f569
X:37537170 MISSING T>Alt too long to show for this DUP	X	37537170	37551205	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37537172_37551205dup	VUS	1 lab	30bd013b33
1:45762292 MISSING A>Alt too long to show for this DUP	1	45762292	45945384	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.45762293_45945384dup	VUS	1 lab	30c1f2cd40
10:55943189 PCDH15 T>C	10	55943189	55943189	T	C	PCDH15	c.1605+15A>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55943189T>C	(Likely) benign	1 lab	30c371e2a6
10:112590912 RBM20 G>A	10	112590912	112590912	G	A	RBM20	c.3545G>A	NM_001134363.3	NP_001127835.2:p.(Arg1182His)	NC_000010.10:g.112590912G>A	VUS	1 lab	30c78a1bcb
1:236900597 ACTN2 G>GTATATATA	1	236900597	236900598	G	GTATATATA	ACTN2	c.876+83_876+84insTATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATA	(Likely) benign	1 lab	30caf916de
16:960992 LMF1 G>A	16	960992	960992	G	A	LMF1	c.602C>T	NM_022773.4	NP_073610.2:p.(Pro201Leu)	NC_000016.9:g.960992G>A	(Likely) pathogenic	1 lab	30d51fe90d
15:58840712 LIPC A>G	15	58840712	58840712	A	G	LIPC	c.992A>G	NM_000236.3	NP_000227.2:p.(Glu331Gly)	NC_000015.9:g.58840712A>G	(Likely) benign	1 lab	30d6e8c09a
2:21230568 APOB C>A	2	21230568	21230568	C	A	APOB	c.9172G>T	NM_000384.3	NP_000375.3:p.(Val3058Phe)	NC_000002.11:g.21230568C>A	VUS	1 lab	30d7d31793
14:23886116 MYH7 G>A	14	23886116	23886116	G	A	MYH7	c.4605C>T	NM_000257.4	NP_000248.2:p.(Ala1535=)	NC_000014.8:g.23886116G>A	(Likely) benign	1 lab	30d82ee600
3:191049514 CCDC50 T>Alt too long to show for this DUP	3	191049514	191093204	T	Alt too long to show for this DUP	CCDC50	c.49+2003_802dup	NM_178335.3	NP_848018.1:p.?	NC_000003.11:g.191049515_191093204dup	VUS	1 lab	30d992dc6f
17:9124472 NTN1 C>A	17	9124472	9124472	C	A	NTN1	c.1412-13C>A	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124472C>A	(Likely) benign	1 lab	30de726172
1:161277094 MPZ G>C	1	161277094	161277094	G	C	MPZ	c.188C>G	NM_000530.8	NP_000521.2:p.(Ser63Cys)	NC_000001.10:g.161277094G>C	(Likely) pathogenic	1 lab	30ed25bb57
4:119736288 SEC24D T>C	4	119736288	119736288	T	C	SEC24D	c.699A>G	NM_001318066.2	NP_001304995.1:p.(Ala233=)	NC_000004.11:g.119736288T>C	(Likely) benign	1 lab	30f4235680
2:21226158 APOB G>A	2	21226158	21226158	G	A	APOB	c.12136C>T	NM_000384.3	NP_000375.3:p.(Arg4046Trp)	NC_000002.11:g.21226158G>A	VUS	1 lab	30f5acf293
5:90050833 ADGRV1 G>T	5	90050833	90050833	G	T	ADGRV1	c.11411G>T	NM_032119.4	NP_115495.3:p.(Arg3804Leu)	NC_000005.9:g.90050833G>T	VUS	1 lab	30fe184302
2:179466515 TTN C>T	2	179466515	179466515	C	T	TTN	c.55303-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179466515C>T	VUS	1 lab	30ff413c6a
8:19810951 LPL T>G	8	19810951	19810951	T	G	LPL	c.541+19T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810951T>G	(Likely) benign	1 lab	30ffb1e0de
11:47353855 MYBPC3 G>C	11	47353855	47353855	G	C	MYBPC3	c.3628-46C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353855G>C	VUS	1 lab	3100b1b30b
8:42608999 CHRNA6 Ref too long to show for this DEL>A	8	42608999	42623822	Ref too long to show for this DEL	A	CHRNA6	c.-248_1354-547del	NM_004198.3	NP_004189.1:p.?	NC_000008.10:g.42609001_42623822del	VUS	1 lab	31019b0792
3:129249907 RHO G>A	3	129249907	129249907	G	A	RHO	c.530+20G>A	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129249907G>A	(Likely) benign	1 lab	3101e68c6f
4:55127488 PDGFRA G>A	4	55127488	55127488	G	A	PDGFRA	c.276G>A	NM_006206.6	NP_006197.1:p.(Ala92=)	NC_000004.11:g.55127488G>A	(Likely) benign	1 lab	3103a142e0
6:219050 MISSING Ref too long to show for this DEL>G	6	219050	2029766	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.219052_2029766del	(Likely) pathogenic	1 lab	3103d217ee
5:127641897 FBN2 C>T	5	127641897	127641897	C	T	FBN2	c.5423-257G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641897C>T	(Likely) benign	1 lab	3103d636f3
6:102429932 GRIK2 Ref too long to show for this DEL>T	6	102429932	102474564	Ref too long to show for this DEL	T	GRIK2	c.2086-53283_2086-8652del	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102429933_102474564del	VUS	1 lab	3109d0e703
8:10467616 RP1L1 A>C	8	10467616	10467616	A	C	RP1L1	c.3992T>G	NM_178857.6	NP_849188.4:p.(Leu1331Arg)	NC_000008.10:g.10467616A>C	(Likely) benign	1 lab	3109eb67d4
15:31318486 TRPM1 G>C	15	31318486	31318486	G	C	TRPM1	c.3548-12C>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31318486G>C	(Likely) benign	1 lab	310a5366d5
1:2160565 SKI C>T	1	2160565	2160565	C	T	SKI	c.360C>T	NM_003036.4	NP_003027.1:p.(Arg120=)	NC_000001.10:g.2160565C>T	(Likely) benign	1 lab	310dc2ec9e
16:54318238 IRX3 G>A	16	54318238	54318238	G	A	IRX3	c.1385-14C>T	NM_024336.3	NP_077312.2:p.?	NC_000016.9:g.54318238G>A	(Likely) benign	1 lab	310e97a232
7:6018290 PMS2 C>A	7	6018290	6018290	C	A	PMS2	c.2212G>T	NM_000535.7	NP_000526.2:p.(Val738Phe)	NC_000007.13:g.6018290C>A	(Likely) benign	1 lab	310ebf7e05
2:179545091 TTN T>C	2	179545091	179545091	T	C	TTN	c.29609-33A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179545091T>C	(Likely) benign	1 lab	310fa6566d
10:61831984 ANK3 G>T	10	61831984	61831984	G	T	ANK3	c.8655C>A	NM_020987.5	NP_066267.2:p.(His2885Gln)	NC_000010.10:g.61831984G>T	(Likely) benign	1 lab	31123a1cb0
8:19816663 LPL G>A	8	19816663	19816663	G	A	LPL	c.1019-108G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816663G>A	(Likely) benign	1 lab	311398fe93
8:134270611 NDRG1 C>T	8	134270611	134270611	C	T	NDRG1	c.448G>A	NM_001135242.2	NP_001128714.1:p.(Ala150Thr)	NC_000008.10:g.134270611C>T	VUS	1 lab	31145529cf
X:107436835 MISSING C>Alt too long to show for this DUP	X	107436835	107784524	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.107436836_107784524dup	VUS	1 lab	31152c4e30
6:7558740 DSP CTTTTT>C	6	7558740	7558765	CTTTTT	C	DSP	c.422+264_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558761_7558765del	(Likely) benign	1 lab	311a207d4a
1:55524339 PCSK9 CGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGT	C	PCSK9	c.1503+60_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524380_55524391del	(Likely) benign	1 lab	311a7a0a33
15:45394121 DUOX2 CAT>C	15	45394121	45394124	CAT	C	DUOX2	c.2719_2720del	NM_014080.5	NP_054799.4:p.(Met907ValfsTer25)	NC_000015.9:g.45394123_45394124del	(Likely) pathogenic	1 lab	311c439793
11:47366465 MYBPC3 C>T	11	47366465	47366465	C	T	MYBPC3	c.1091-1290G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366465C>T	(Likely) benign	1 lab	311d87715f
15:85403112 ALPK3 C>T	15	85403112	85403112	C	T	ALPK3	c.4071C>T	NM_020778.5	NP_065829.4:p.(Thr1357=)	NC_000015.9:g.85403112C>T	(Likely) benign	1 lab	312694a100
11:47354058 MYBPC3 G>A	11	47354058	47354058	G	A	MYBPC3	c.3627+59C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354058G>A	(Likely) benign	1 lab	3127868780
1:197298134 CRB1 G>A	1	197298134	197298134	G	A	CRB1	c.445+1G>A	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197298134G>A	(Likely) pathogenic	1 lab	3128d2a8a7
17:10424759 MYH2 A>G	17	10424759	10424759	A	G	MYH2	c.5674-10T>C	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10424759A>G	(Likely) benign	1 lab	3129a8129c
20:54824073 MC3R G>A	20	54824073	54824073	G	A	MC3R	c.174G>A	NM_019888.3	NP_063941.3:p.(Leu58=)	NC_000020.10:g.54824073G>A	(Likely) benign	1 lab	32aa7f31c8
5:149509506 PDGFRB G>A	5	149509506	149509506	G	A	PDGFRB	c.1393C>T	NM_002609.4	NP_002600.1:p.(Leu465=)	NC_000005.9:g.149509506G>A	(Likely) benign	1 lab	31321462af
7:33217151 BBS9 T>C	7	33217151	33217151	T	C	BBS9	c.117T>C	NM_001348038.3	NP_001334967.1:p.(Asn39=)	NC_000007.13:g.33217151T>C	(Likely) benign	1 lab	3135774a7e
12:50498148 GPD1 C>A	12	50498148	50498148	C	A	GPD1	c.42-209C>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498148C>A	(Likely) benign	1 lab	3135fc50ef
6:116720429 DSE C>A	6	116720429	116720429	C	A	DSE	c.16C>A	NM_013352.4	NP_037484.1:p.(Arg6=)	NC_000006.11:g.116720429C>A	(Likely) benign	1 lab	31436655cb
2:179400323 TTN GT>G	2	179400323	179400328	GT	G	TTN	c.101018del	NM_001267550.2	NP_001254479.2:p.(Asn33673ThrfsTer36)	NC_000002.11:g.179400328del	(Likely) pathogenic	1 lab	3143bb129c
11:118367029 KMT2A G>T	11	118367029	118367029	G	T	KMT2A	c.5611G>T	NM_001197104.2	NP_001184033.1:p.(Glu1871Ter)	NC_000011.9:g.118367029G>T	(Likely) pathogenic	1 lab	3147f0a5f7
15:58853212 LIPC GAC>G	15	58853212	58853218	GAC	G	LIPC	c.1169+37_1169+38del	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853217_58853218del	(Likely) benign	1 lab	314858c72e
3:75786993 ZNF717 T>A	3	75786993	75786993	T	A	ZNF717	c.1781A>T	NM_001128223.3	NP_001121695.1:p.(Asn594Ile)	NC_000003.11:g.75786993T>A	(Likely) benign	1 lab	314a50088b
12:124358121 DNAH10 A>G	12	124358121	124358121	A	G	DNAH10	c.7448A>G	NM_207437.3	NP_997320.2:p.(Asn2483Ser)	NC_000012.11:g.124358121A>G	(Likely) benign	1 lab	314a5d2ed7
2:21232144 APOB A>G	2	21232144	21232144	A	G	APOB	c.7596T>C	NM_000384.3	NP_000375.3:p.(Leu2532=)	NC_000002.11:g.21232144A>G	(Likely) benign	1 lab	315031aadf
5:140207965 PCDHA6 G>C	5	140207965	140207965	G	C	PCDHA6	c.289G>C	NM_018909.4	NP_061732.1:p.(Gly97Arg)	NC_000005.9:g.140207965G>C	(Likely) benign	1 lab	315345f72d
2:113308516 POLR1B T>A	2	113308516	113308516	T	A	POLR1B	c.282T>A	NM_001282777.2	NP_001269706.1:p.(Thr94=)	NC_000002.11:g.113308516T>A	(Likely) benign	1 lab	3155ac70c3
5:1212494 SLC6A19 C>T	5	1212494	1212494	C	T	SLC6A19	c.558C>T	NM_001003841.3	NP_001003841.1:p.(Ser186=)	NC_000005.9:g.1212494C>T	(Likely) benign	1 lab	31564e2319
6:16144103 MYLIP C>A	6	16144103	16144103	C	A	MYLIP	c.827+9C>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16144103C>A	(Likely) benign	1 lab	3156a794b2
X:152771698 BGN A>G	X	152771698	152771698	A	G	BGN	c.565+164A>G	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771698A>G	(Likely) benign	1 lab	31615b3fc6
16:89598986 SPG7 C>T	16	89598986	89598986	C	T	SPG7	c.1266C>T	NM_001363850.1	NP_001350779.1:p.(Ser422=)	NC_000016.9:g.89598986C>T	(Likely) benign	1 lab	3162ed5479
17:33433431 RAD51D C>T	17	33433431	33433431	C	T	RAD51D	c.550G>A	NM_002878.4	NP_002869.3:p.(Glu184Lys)	NC_000017.10:g.33433431C>T	VUS	1 lab	3163e738fe
2:179647125 TTN G>A	2	179647125	179647125	G	A	TTN	c.3194C>T	NM_133378.4	NP_596869.4:p.(Thr1065Ile)	NC_000002.11:g.179647125G>A	VUS	1 lab	3169a38474
2:5833005 SOX11 G>A	2	5833005	5833005	G	A	SOX11	c.152G>A	NM_003108.4	NP_003099.1:p.(Arg51Gln)	NC_000002.11:g.5833005G>A	(Likely) pathogenic	1 lab	316a531faa
19:47259043 FKRP C>G	19	47259043	47259043	C	G	FKRP	c.336C>G	NM_001039885.3	NP_001034974.1:p.(Ala112=)	NC_000019.9:g.47259043C>G	(Likely) benign	1 lab	316a817ecc
18:45397168 SMAD2 T>C	18	45397168	45397168	T	C	SMAD2	c.237-233A>G	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45397168T>C	(Likely) benign	1 lab	316b01af98
11:47366505 MYBPC3 G>A	11	47366505	47366505	G	A	MYBPC3	c.1090+1253C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366505G>A	(Likely) benign	1 lab	316be2e04e
12:50500079 GPD1 C>T	12	50500079	50500079	C	T	GPD1	c.369C>T	NM_005276.4	NP_005267.2:p.(Asp123=)	NC_000012.11:g.50500079C>T	(Likely) benign	1 lab	316d485856
12:64879226 TBK1 A>G	12	64879226	64879226	A	G	TBK1	c.1190-9A>G	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64879226A>G	(Likely) benign	1 lab	316dd6346a
16:46772022 MYLK3 G>A	16	46772022	46772022	G	A	MYLK3	c.602C>T	NM_182493.3	NP_872299.2:p.(Ala201Val)	NC_000016.9:g.46772022G>A	VUS	1 lab	316eb44c99
17:10443320 MYH2 C>A	17	10443320	10443320	C	A	MYH2	c.1072G>T	NM_001100112.2	NP_001093582.1:p.(Ala358Ser)	NC_000017.10:g.10443320C>A	VUS	1 lab	316ed5385e
16:50750561 NOD2 C>A	16	50750561	50750561	C	A	NOD2	c.2526C>A	NM_022162.3	NP_071445.1:p.(Cys842Ter)	NC_000016.9:g.50750561C>A	VUS	1 lab	3174835f28
18:25570284 CDH2 C>A	18	25570284	25570284	C	A	CDH2	c.1375G>T	NM_001792.5	NP_001783.2:p.(Val459Phe)	NC_000018.9:g.25570284C>A	VUS	1 lab	3175df1d17
9:111653600 ELP1 G>A	9	111653600	111653600	G	A	ELP1	c.3043C>T	NM_003640.5	NP_003631.2:p.(His1015Tyr)	NC_000009.11:g.111653600G>A	VUS	1 lab	3177a24790
8:4709512 CSMD1 Ref too long to show for this DEL>T	8	4709512	4748903	Ref too long to show for this DEL	T	CSMD1	c.85+102953_85+142341del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.4709515_4748903del	(Likely) benign	1 lab	3178126be3
10:126691608 CTBP2 C>T	10	126691608	126691608	C	T	CTBP2	c.1899G>A	NM_022802.3	NP_073713.2:p.(Glu633=)	NC_000010.10:g.126691608C>T	(Likely) benign	1 lab	3178d0bcbb
4:100534063 MTTP T>C	4	100534063	100534063	T	C	MTTP	c.1990-7T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534063T>C	(Likely) benign	1 lab	317c1325a8
2:112786400 MERTK TTTG>T	2	112786400	112786403	TTTG	T	MERTK	c.2960_2962del	NM_006343.3	NP_006334.2:p.(Phe987_Ala988delinsSer)	NC_000002.11:g.112786401_112786403del	VUS	1 lab	317cb1e477
4:55968053 KDR A>C	4	55968053	55968053	A	C	KDR	c.2266+11T>G	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55968053A>C	(Likely) benign	1 lab	317de887d7
11:76795984 CAPN5 C>T	11	76795984	76795984	C	T	CAPN5	c.52C>T	NM_004055.5	NP_004046.2:p.(Arg18Trp)	NC_000011.9:g.76795984C>T	(Likely) benign	1 lab	318165ebc9
18:34320811 FHOD3 C>T	18	34320811	34320811	C	T	FHOD3	c.3759+10C>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34320811C>T	(Likely) benign	1 lab	31827c623d
1:6545390 PLEKHG5 A>T	1	6545390	6545390	A	T	PLEKHG5	c.114T>A	NM_001265593.1	NP_001252522.1:p.(Asp38Glu)	NC_000001.10:g.6545390A>T	(Likely) benign	1 lab	3185ae05dc
2:234229344 SAG C>T	2	234229344	234229344	C	T	SAG	c.250C>T	NM_000541.5	NP_000532.2:p.(Arg84Cys)	NC_000002.11:g.234229344C>T	(Likely) benign	1 lab	3196f8fc5f
11:74290869 MISSING Ref too long to show for this DEL>A	11	74290869	76797338	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.74290870_76797338del	(Likely) pathogenic	1 lab	31865267ab
2:179576917 TTN C>T	2	179576917	179576917	C	T	TTN	c.27640G>A	NM_001267550.2	NP_001254479.2:p.(Val9214Ile)	NC_000002.11:g.179576917C>T	VUS	1 lab	318b977881
8:19818095 LPL T>C	8	19818095	19818095	T	C	LPL	c.1140-317T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818095T>C	(Likely) benign	1 lab	318c1b4350
2:15601883 NBAS C>T	2	15601883	15601883	C	T	NBAS	c.2130G>A	NM_015909.4	NP_056993.2:p.(Gln710=)	NC_000002.11:g.15601883C>T	(Likely) benign	1 lab	318e64bd7b
22:38522457 PLA2G6 C>T	22	38522457	38522457	C	T	PLA2G6	c.1349-1G>A	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38522457C>T	(Likely) pathogenic	1 lab	318e65b125
4:25674913 SLC34A2 A>G	4	25674913	25674913	A	G	SLC34A2	c.1213+37A>G	NM_001177999.2	NP_001171470.2:p.?	NC_000004.11:g.25674913A>G	(Likely) benign	1 lab	318f05097c
X:135956462 RBMX G>C	X	135956462	135956462	G	C	RBMX	c.1015C>G	NM_002139.4	NP_002130.2:p.(Arg339Gly)	NC_000023.10:g.135956462G>C	(Likely) benign	1 lab	3191be1e0a
3:129251490 RHO G>A	3	129251490	129251490	G	A	RHO	c.811G>A	NM_000539.3	NP_000530.1:p.(Val271Met)	NC_000003.11:g.129251490G>A	VUS	1 lab	3191c98851
5:137754892 KDM3B C>T	5	137754892	137754892	C	T	KDM3B	c.3686C>T	NM_016604.4	NP_057688.3:p.(Ala1229Val)	NC_000005.9:g.137754892C>T	VUS	1 lab	319345a6c0
9:101904618 TGFBR1 G>A	9	101904618	101904618	G	A	TGFBR1	c.806-200G>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101904618G>A	(Likely) benign	1 lab	31967596b9
18:61002722 KDSR A>Alt too long to show for this DUP	18	61002722	61037795	A	Alt too long to show for this DUP	KDSR				NC_000018.9:g.61002725_61037795dup	VUS	1 lab	31979b0685
10:90694793 ACTA2 G>T	10	90694793	90694793	G	T	ACTA2				NC_000010.10:g.90694793G>T	(Likely) benign	1 lab	319905584d
14:55480000 MISSING G>Alt too long to show for this DUP	14	55480000	55891094	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.55480001_55891094dup	VUS	1 lab	3199d1f66d
10:112583578 RBM20 T>G	10	112583578	112583578	T	G	RBM20	c.3451+206T>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583578T>G	(Likely) benign	1 lab	319e7b42d6
2:21225964 APOB G>A	2	21225964	21225964	G	A	APOB	c.12330C>T	NM_000384.3	NP_000375.3:p.(Asn4110=)	NC_000002.11:g.21225964G>A	(Likely) benign	1 lab	31a008ad30
12:82064615 PPFIA2 C>Alt too long to show for this DUP	12	82064615	82093846	C	Alt too long to show for this DUP	PPFIA2	c.250-23221_303+5954dup	NM_003625.5	NP_003616.2:p.?	NC_000012.11:g.82064618_82093846dup	VUS	1 lab	31a17c5355
17:59761380 BRIP1 T>C	17	59761380	59761380	T	C	BRIP1	c.3027A>G	NM_032043.3	NP_114432.2:p.(Gly1009=)	NC_000017.10:g.59761380T>C	(Likely) benign	1 lab	31a842ef89
14:23870085 MYH6 C>T	14	23870085	23870085	C	T	MYH6	c.1243G>A	NM_002471.4	NP_002462.2:p.(Gly415Arg)	NC_000014.8:g.23870085C>T	(Likely) benign	1 lab	31a88ef53c
8:10467586 RP1L1 GTT>G	8	10467586	10467589	GTT	G	RP1L1	c.4020_4021del	NM_178857.6	NP_849188.4:p.(Glu1340AspfsTer2)	NC_000008.10:g.10467588_10467589del	(Likely) benign	1 lab	31aa3a537d
3:136060343 STAG1 T>C	3	136060343	136060343	T	C	STAG1	c.3497A>G	NM_005862.3	NP_005853.2:p.(Asn1166Ser)	NC_000003.11:g.136060343T>C	VUS	1 lab	31aa7ca7da
22:50659275 TUBGCP6 C>T	22	50659275	50659275	C	T	TUBGCP6	c.3513G>A	NM_020461.4	NP_065194.3:p.(Leu1171=)	NC_000022.10:g.50659275C>T	(Likely) benign	1 lab	31ab7eba3c
9:111685181 ELP1 T>C	9	111685181	111685181	T	C	ELP1	c.493A>G	NM_003640.5	NP_003631.2:p.(Arg165Gly)	NC_000009.11:g.111685181T>C	VUS	1 lab	31ac181290
2:179584131 TTN C>T	2	179584131	179584131	C	T	TTN	c.23986G>A	NM_001267550.2	NP_001254479.2:p.(Ala7996Thr)	NC_000002.11:g.179584131C>T	VUS	1 lab	31aca755b3
2:179404947 TTN T>G	2	179404947	179404947	T	G	TTN	c.97946A>C	NM_001267550.2	NP_001254479.2:p.(Lys32649Thr)	NC_000002.11:g.179404947T>G	VUS	1 lab	31af31379e
13:32918787 BRCA2 G>C	13	32918787	32918787	G	C	BRCA2	c.6934G>C	NM_000059.4	NP_000050.3:p.(Asp2312His)	NC_000013.10:g.32918787G>C	VUS	1 lab	31af922869
3:123452624 MYLK C>A	3	123452624	123452624	C	A	MYLK	c.1219G>T	NM_053025.4	NP_444253.3:p.(Gly407Cys)	NC_000003.11:g.123452624C>A	(Likely) benign	1 lab	31b3c27a27
1:22159762 HSPG2 A>G	1	22159762	22159762	A	G	HSPG2	c.11097T>C	NM_001291860.2	NP_001278789.1:p.(Asp3699=)	NC_000001.10:g.22159762A>G	(Likely) benign	1 lab	31b4f79466
20:45362377 SLC2A10 G>A	20	45362377	45362377	G	A	SLC2A10	c.1548-18G>A	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45362377G>A	(Likely) benign	1 lab	31b963c92b
2:96954996 SNRNP200 G>A	2	96954996	96954996	G	A	SNRNP200	c.3062C>T	NM_014014.5	NP_054733.2:p.(Ser1021Phe)	NC_000002.11:g.96954996G>A	VUS	1 lab	31c0be8389
3:87322646 POU1F1 A>C	3	87322646	87322646	A	C	POU1F1	c.143T>G	NM_001122757.3	NP_001116229.1:p.(Val48Gly)	NC_000003.11:g.87322646A>C	(Likely) pathogenic	1 lab	31c19b10b9
15:45427477 DUOX1 T>C	15	45427477	45427477	T	C	DUOX1	c.483T>C	NM_017434.5	NP_059130.2:p.(Asn161=)	NC_000015.9:g.45427477T>C	(Likely) benign	1 lab	31c3ca627e
16:1637200 IFT140 T>C	16	1637200	1637200	T	C	IFT140	c.1008A>G	NM_014714.4	NP_055529.2:p.(Lys336=)	NC_000016.9:g.1637200T>C	(Likely) benign	1 lab	31c585247d
2:179604797 TTN G>T	2	179604797	179604797	G	T	TTN	c.13163C>A	NM_001267550.2	NP_001254479.2:p.(Pro4388Gln)	NC_000002.11:g.179604797G>T	VUS	1 lab	31c5e1a1bf
14:23896028 MYH7 G>T	14	23896028	23896028	G	T	MYH7	c.2002C>A	NM_000257.4	NP_000248.2:p.(His668Asn)	NC_000014.8:g.23896028G>T	(Likely) pathogenic	1 lab	31ce36a8e8
6:16143974 MYLIP A>G	6	16143974	16143974	A	G	MYLIP	c.707A>G	NM_013262.4	NP_037394.2:p.(Asn236Ser)	NC_000006.11:g.16143974A>G	VUS	1 lab	31cf797883
12:32996201 PKP2 C>G	12	32996201	32996201	C	G	PKP2	c.1425G>C	NM_004572.4	NP_004563.2:p.(Val475=)	NC_000012.11:g.32996201C>G	(Likely) benign	1 lab	31d33f63c5
2:24930063 NCOA1 T>C	2	24930063	24930063	T	C	NCOA1	c.1724T>C	NM_001362950.1	NP_001349879.1:p.(Ile575Thr)	NC_000002.11:g.24930063T>C	(Likely) benign	1 lab	31d7c5fd95
2:108608648 SLC5A7 A>G	2	108608648	108608648	A	G	SLC5A7	c.265A>G	NM_021815.5	NP_068587.1:p.(Ile89Val)	NC_000002.11:g.108608648A>G	(Likely) benign	1 lab	31dbea363e
12:33049611 PKP2 G>A	12	33049611	33049611	G	A	PKP2	c.55C>T	NM_004572.4	NP_004563.2:p.(Gln19Ter)	NC_000012.11:g.33049611G>A	(Likely) pathogenic	1 lab	31de4d013d
1:74902222 TNNI3K C>T	1	74902222	74902222	C	T	TNNI3K	c.1878+12C>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74902222C>T	(Likely) benign	1 lab	31e20f7193
12:118405862 KSR2 T>C	12	118405862	118405862	T	C	KSR2	c.180+19A>G	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.118405862T>C	(Likely) benign	1 lab	31e4abcd8e
4:8113775 MISSING C>Alt too long to show for this DUP	4	8113775	8384827	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.8113776_8384827dup	VUS	1 lab	31e5dc4ede
12:48389689 COL2A1 G>A	12	48389689	48389689	G	A	COL2A1	c.623C>T	NM_001844.5	NP_001835.3:p.(Pro208Leu)	NC_000012.11:g.48389689G>A	VUS	1 lab	31e941714c
12:21325710 SLCO1B1 G>A	12	21325710	21325710	G	A	SLCO1B1	c.211G>A	NM_006446.5	NP_006437.3:p.(Gly71Arg)	NC_000012.11:g.21325710G>A	(Likely) benign	1 lab	31e9ccb7bd
X:46713166 RP2 C>T	X	46713166	46713166	C	T	RP2	c.358C>T	NM_006915.3	NP_008846.2:p.(Arg120Ter)	NC_000023.10:g.46713166C>T	(Likely) pathogenic	1 lab	31f13927f4
7:94052387 COL1A2 G>C	7	94052387	94052387	G	C	COL1A2	c.2522G>C	NM_000089.4	NP_000080.2:p.(Gly841Ala)	NC_000007.13:g.94052387G>C	(Likely) pathogenic	1 lab	31f6edc40c
3:173441115 NLGN1 Ref too long to show for this DEL>A	3	173441115	173451527	Ref too long to show for this DEL	A	NLGN1	c.554-84354_554-73943del	NM_001365925.2	NP_001352854.1:p.?	NC_000003.11:g.173441116_173451527del	VUS	1 lab	31f8b26f96
1:186037078 HMCN1 C>T	1	186037078	186037078	C	T	HMCN1	c.7818C>T	NM_031935.3	NP_114141.2:p.(Thr2606=)	NC_000001.10:g.186037078C>T	(Likely) benign	1 lab	31fac62a8f
2:97475080 CNNM4 C>T	2	97475080	97475080	C	T	CNNM4	c.2154C>T	NM_020184.4	NP_064569.3:p.(Asn718=)	NC_000002.11:g.97475080C>T	(Likely) benign	1 lab	31fc114b2d
16:17294435 XYLT1 A>G	16	17294435	17294435	A	G	XYLT1	c.990T>C	NM_022166.4	NP_071449.1:p.(Phe330=)	NC_000016.9:g.17294435A>G	(Likely) benign	1 lab	31ff5d4ac1
2:179575997 TTN ACAAT>A	2	179575997	179576004	ACAAT	A	TTN	c.27962_27965del	NM_001267550.2	NP_001254479.2:p.(Asp9321ValfsTer3)	NC_000002.11:g.179576001_179576004del	(Likely) benign	1 lab	32035c7610
2:47389310 CALM2 CAAAAAAAAAAAAAA>C	2	47389310	47389339	CAAAAAAAAAAAAAA	C	CALM2	c.285+101_285+114del	NM_001743.6	NP_001734.1:p.?	NC_000002.11:g.47389326_47389339del	(Likely) benign	1 lab	32075b8650
10:3818869 KLF6 Ref too long to show for this DEL>G	10	3818869	3830427	Ref too long to show for this DEL	G	KLF6				NC_000010.10:g.3818870_3830427del	VUS	1 lab	320a848173
19:11227711 LDLR C>T	19	11227711	11227711	C	T	LDLR	c.1845+37C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227711C>T	(Likely) benign	1 lab	320b81c9bc
11:61722571 BEST1 A>C	11	61722571	61722571	A	C	BEST1	c.-28-8A>C	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61722571A>C	(Likely) benign	1 lab	320b99f510
15:100657065 ADAMTS17 G>A	15	100657065	100657065	G	A	ADAMTS17	c.1875C>T	NM_139057.4	NP_620688.2:p.(Ala625=)	NC_000015.9:g.100657065G>A	(Likely) benign	1 lab	321392fe5f
4:619547 PDE6B C>G	4	619547	619547	C	G	PDE6B	c.132C>G	NM_000283.4	NP_000274.3:p.(Cys44Trp)	NC_000004.11:g.619547C>G	(Likely) benign	1 lab	32150a1c8b
19:45409867 APOE AT>A	19	45409867	45409868	AT	A	APOE	c.65del	NM_001302688.2	NP_001289617.1:p.(Ile22ThrfsTer6)	NC_000019.9:g.45409868del	VUS	1 lab	32156a657f
15:48826608 FBN1 T>A	15	48826608	48826608	T	A	FBN1	c.737-206A>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826608T>A	(Likely) benign	1 lab	3219eed0fd
4:123160762 BLTP1 C>T	4	123160762	123160762	C	T	BLTP1	c.3925C>T	NM_015312.4	NP_056127.2:p.(Arg1309Ter)	NC_000004.11:g.123160762C>T	(Likely) pathogenic	1 lab	321ac2c4d4
8:24813583 NEFL C>G	8	24813583	24813583	C	G	NEFL	c.447G>C	NM_006158.5	NP_006149.2:p.(Ala149=)	NC_000008.10:g.24813583C>G	(Likely) benign	1 lab	3221cc968f
X:152710265 TREX2 C>T	X	152710265	152710265	C	T	TREX2	c.624G>A	NM_080701.4	NP_542432.2:p.(Leu208=)	NC_000023.10:g.152710265C>T	(Likely) benign	1 lab	3221d11f93
7:150656741 KCNH2 C>T	7	150656741	150656741	C	T	KCNH2	c.391G>A	NM_000238.4	NP_000229.1:p.(Val131Met)	NC_000007.13:g.150656741C>T	VUS	1 lab	32230cc7e6
14:23857358 MYH6 G>A	14	23857358	23857358	G	A	MYH6	c.4359+6C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857358G>A	(Likely) benign	1 lab	3230405fa1
9:107586851 ABCA1 C>T	9	107586851	107586851	C	T	ABCA1	c.2551G>A	NM_005502.4	NP_005493.2:p.(Gly851Arg)	NC_000009.11:g.107586851C>T	(Likely) pathogenic	1 lab	3231616ba7
2:97851073 ANKRD36 GC>G	2	97851073	97851075	GC	G	ANKRD36	c.1962del	NM_001354587.1	NP_001341516.1:p.(Ser655GlnfsTer12)	NC_000002.11:g.97851075del	(Likely) benign	1 lab	3232a5887c
13:101101497 PCCA G>T	13	101101497	101101497	G	T	PCCA	c.1846-9G>T	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.101101497G>T	(Likely) benign	1 lab	323321f433
X:54492242 FGD1 G>A	X	54492242	54492242	G	A	FGD1	c.1384C>T	NM_004463.3	NP_004454.2:p.(Pro462Ser)	NC_000023.10:g.54492242G>A	VUS	1 lab	3234c9f967
1:148346633 NBPF26 A>T	1	148346633	148346633	A	T	NBPF26	c.124T>A	NM_001351372.1	NP_001338301.1:p.(Cys42Ser)	NC_000001.10:g.148346633A>T	(Likely) benign	1 lab	323567edc7
6:17762747 MISSING A>Alt too long to show for this DUP	6	17762747	18055390	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.17762748_18055390dup	VUS	1 lab	3237e031af
X:15843877 MISSING T>Alt too long to show for this DUP	X	15843877	16332025	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.15843878_16332025dup	VUS	1 lab	32397840c0
11:86666080 FZD4 G>A	11	86666080	86666080	G	A	FZD4	c.48C>T	NM_012193.4	NP_036325.2:p.(Gly16=)	NC_000011.9:g.86666080G>A	(Likely) benign	1 lab	323b691399
4:84406205 ABRAXAS1 C>T	4	84406205	84406205	C	T	ABRAXAS1	c.21G>A	NM_139076.3	NP_620775.2:p.(Ser7=)	NC_000004.11:g.84406205C>T	(Likely) benign	1 lab	3244222801
2:179528371 TTN T>C	2	179528371	179528371	T	C	TTN	c.36515A>G	NM_001267550.2	NP_001254479.2:p.(Glu12172Gly)	NC_000002.11:g.179528371T>C	VUS	1 lab	3248624065
16:942987 LMF1 A>G	16	942987	942987	A	G	LMF1	c.330+20T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942987A>G	(Likely) benign	1 lab	324d19a09c
16:1004062 LMF1 G>C	16	1004062	1004062	G	C	LMF1	c.-52+295C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004062G>C	(Likely) benign	1 lab	324e441d0d
X:49103362 CCDC22 C>G	X	49103362	49103362	C	G	CCDC22	c.885C>G	NM_014008.5	NP_054727.1:p.(His295Gln)	NC_000023.10:g.49103362C>G	(Likely) benign	1 lab	324f2dd2f4
19:55317428 KIR2DL4 T>C	19	55317428	55317428	T	C	KIR2DL4	c.384T>C	NM_001080772.2	NP_001074241.1:p.(Leu128=)	NC_000019.9:g.55317428T>C	(Likely) benign	1 lab	324fa40fa0
15:35084391 ACTC1 GGAGGAA>G	15	35084391	35084401	GGAGGAA	G	ACTC1	c.702_707del	NM_005159.5	NP_005150.1:p.(Ser236_Ser237del)	NC_000015.9:g.35084396_35084401del	(Likely) benign	1 lab	325147b7b8
3:171065010 TNIK G>GAA	3	171065010	171065025	G	GAA	TNIK	c.123+22397_123+22398dup	NM_015028.4	NP_055843.1:p.?	NC_000003.11:g.171065024_171065025dup	(Likely) benign	1 lab	3251e01698
15:40313081 EIF2AK4 C>T	15	40313081	40313081	C	T	EIF2AK4	c.4174-19C>T	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40313081C>T	(Likely) benign	1 lab	326c24c067
3:62413007 CADPS Ref too long to show for this DEL>T	3	62413007	62448942	Ref too long to show for this DEL	T	CADPS	c.3636+2100_3777+10771del	NM_003716.4	NP_003707.2:p.?	NC_000003.11:g.62413008_62448942del	VUS	1 lab	3253cfc10f
2:230724037 MISSING G>Alt too long to show for this DUP	2	230724037	230886374	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.230724040_230886374dup	VUS	1 lab	3256b3d497
14:23889323 MYH7 C>T	14	23889323	23889323	C	T	MYH7	c.3457G>A	NM_000257.4	NP_000248.2:p.(Ala1153Thr)	NC_000014.8:g.23889323C>T	VUS	1 lab	3257f7771a
3:121202433 POLQ TAA>T	3	121202433	121202450	TAA	T	POLQ	c.5774-6_5774-5del	NM_199420.4	NP_955452.3:p.?	NC_000003.11:g.121202449_121202450del	(Likely) benign	1 lab	3258709415
18:19378030 MIB1 A>G	18	19378030	19378030	A	G	MIB1	c.1093-15A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19378030A>G	(Likely) benign	1 lab	325997e4d4
2:21231850 APOB C>G	2	21231850	21231850	C	G	APOB	c.7890G>C	NM_000384.3	NP_000375.3:p.(Gln2630His)	NC_000002.11:g.21231850C>G	VUS	1 lab	3264b259bd
17:41245799 BRCA1 T>C	17	41245799	41245799	T	C	BRCA1	c.1749A>G	NM_007294.4	NP_009225.1:p.(Lys583=)	NC_000017.10:g.41245799T>C	(Likely) benign	1 lab	3264bfc0c4
2:51193858 NRXN1 Ref too long to show for this DEL>A	2	51193858	51263065	Ref too long to show for this DEL	A	NRXN1				NC_000002.11:g.51193859_51263065del	(Likely) pathogenic	1 lab	3267de73ca
13:90757409 MISSING Ref too long to show for this DEL>C	13	90757409	91200745	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.90757412_91200745del	VUS	1 lab	3269deef8a
16:55862824 CES1 C>T	16	55862824	55862824	C	T	CES1	c.115G>A	NM_001025195.2	NP_001020366.1:p.(Val39Ile)	NC_000016.9:g.55862824C>T	(Likely) benign	1 lab	326a1e7e70
3:158332588 MISSING Ref too long to show for this DEL>T	3	158332588	158703236	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.158332590_158703236del	(Likely) pathogenic	1 lab	326a63cd22
10:53893596 PRKG1 A>C	10	53893596	53893596	A	C	PRKG1	c.936-4A>C	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53893596A>C	(Likely) benign	1 lab	326d84170a
15:48765184 FBN1 G>T	15	48765184	48765184	G	T	FBN1	c.4211-311C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48765184G>T	(Likely) benign	1 lab	3270355c9a
20:57466911 GNAS C>T	20	57466911	57466911	C	T	GNAS	c.130C>T	NM_001077488.5	NP_001070956.1:p.(Leu44=)	NC_000020.10:g.57466911C>T	(Likely) benign	1 lab	3272b3ce34
6:82461727 TENT5A A>ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	6	82461727	82461789	A	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	TENT5A	c.72_131dup	NM_017633.3	NP_060103.2:p.(Asp26_Gly45dup)	NC_000006.11:g.82461730_82461789dup	(Likely) benign	1 lab	327a4e9c1a
2:179638968 TTN G>A	2	179638968	179638968	G	A	TTN	c.7023C>T	NM_001267550.2	NP_001254479.2:p.(Asp2341=)	NC_000002.11:g.179638968G>A	(Likely) benign	1 lab	327be5ae05
14:76432249 TGFB3 A>G	14	76432249	76432249	A	G	TGFB3	c.647-211T>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76432249A>G	(Likely) benign	1 lab	327deed2d8
2:220285223 DES C>A	2	220285223	220285223	C	A	DES	c.742C>A	NM_001927.4	NP_001918.3:p.(Arg248Ser)	NC_000002.11:g.220285223C>A	VUS	1 lab	327e996745
8:19812228 LPL A>C	8	19812228	19812228	A	C	LPL	c.775+364A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812228A>C	(Likely) benign	1 lab	327f42dbbd
15:67457681 SMAD3 C>CT	15	67457681	67457682	C	CT	SMAD3	c.492dup	NM_005902.4	NP_005893.1:p.(Asn165Ter)	NC_000015.9:g.67457682dup	(Likely) pathogenic	1 lab	3281891f9c
6:56422322 DST AG>A	6	56422322	56422323	AG	A	DST	c.8084-7del	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56422323del	(Likely) benign	1 lab	32850c66cd
12:124320030 DNAH10 G>A	12	124320030	124320030	G	A	DNAH10	c.4503G>A	NM_207437.3	NP_997320.2:p.(Pro1501=)	NC_000012.11:g.124320030G>A	(Likely) benign	1 lab	328517e1cb
17:75494746 SEPTIN9 A>G	17	75494746	75494746	A	G	SEPTIN9	c.*6A>G	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75494746A>G	(Likely) benign	1 lab	32857fbb41
12:125270817 SCARB1 G>A	12	125270817	125270817	G	A	SCARB1	c.1487C>T	NM_001367981.1	NP_001354910.1:p.(Pro496Leu)	NC_000012.11:g.125270817G>A	VUS	1 lab	3286a32496
15:30696449 GOLGA8R C>A	15	30696449	30696449	C	A	GOLGA8R	c.1564+6G>T	NM_001282484.1	NP_001269413.1:p.?	NC_000015.9:g.30696449C>A	(Likely) benign	1 lab	32882314c9
7:33217071 BBS9 CTT>C	7	33217071	33217083	CTT	C	BBS9	c.329-8_329-7del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33217082_33217083del	(Likely) benign	1 lab	328a485c5c
18:29121161 DSG2 C>A	18	29121161	29121161	C	A	DSG2	c.1885C>A	NM_001943.5	NP_001934.2:p.(Pro629Thr)	NC_000018.9:g.29121161C>A	VUS	1 lab	32907030f3
8:100454618 VPS13B T>C	8	100454618	100454618	T	C	VPS13B	c.3211-11T>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100454618T>C	(Likely) benign	1 lab	3292459652
4:100512481 MTTP G>A	4	100512481	100512481	G	A	MTTP	c.591G>A	NM_000253.4	NP_000244.2:p.(Ala197=)	NC_000004.11:g.100512481G>A	(Likely) benign	1 lab	3293e81fe9
20:33665831 TRPC4AP A>C	20	33665831	33665831	A	C	TRPC4AP	c.297+18T>G	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33665831A>C	(Likely) benign	1 lab	32940b0d5d
3:57913006 SLMAP G>A	3	57913006	57913006	G	A	SLMAP	c.2395-17G>A	NM_001304420.3	NP_001291349.1:p.?	NC_000003.11:g.57913006G>A	(Likely) benign	1 lab	3294205a07
7:92129122 PEX1 G>A	7	92129122	92129122	G	A	PEX1	c.1990C>T	NM_001282678.2	NP_001269607.1:p.(Arg664Ter)	NC_000007.13:g.92129122G>A	(Likely) pathogenic	1 lab	329436bc89
3:38640663 SCN5A A>G	3	38640663	38640663	A	G	SCN5A	c.1891-122T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38640663A>G	(Likely) benign	1 lab	3294eabe08
15:45397831 DUOX2 G>A	15	45397831	45397831	G	A	DUOX2	c.2334+10C>T	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45397831G>A	(Likely) benign	1 lab	329583a39c
2:179579765 TTN T>C	2	179579765	179579765	T	C	TTN	c.26148A>G	NM_001267550.2	NP_001254479.2:p.(Lys8716=)	NC_000002.11:g.179579765T>C	(Likely) benign	1 lab	3295bdc604
17:59858353 BRIP1 A>G	17	59858353	59858353	A	G	BRIP1	c.1642T>C	NM_032043.3	NP_114432.2:p.(Tyr548His)	NC_000017.10:g.59858353A>G	VUS	1 lab	32ad034a80
2:85510654 TCF7L1 T>A	2	85510654	85510654	T	A	TCF7L1	c.478T>A	NM_031283.3	NP_112573.1:p.(Ser160Thr)	NC_000002.11:g.85510654T>A	(Likely) benign	1 lab	3299f71bbd
2:189861946 COL3A1 TA>T	2	189861946	189861947	TA	T	COL3A1	c.1815+3del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861947del	VUS	1 lab	32a2dae778
1:12052717 MFN2 G>A	1	12052717	12052717	G	A	MFN2	c.281G>A	NM_014874.4	NP_055689.1:p.(Arg94Gln)	NC_000001.10:g.12052717G>A	(Likely) pathogenic	1 lab	32a43a8b78
X:54491939 FGD1 G>Alt too long to show for this DUP	X	54491939	54498951	G	Alt too long to show for this DUP	FGD1	c.308-1031_1580dup	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54491940_54498951dup	VUS	1 lab	32a5eb45fd
16:1706693 CRAMP1 C>T	16	1706693	1706693	C	T	CRAMP1	c.1935C>T	NM_020825.4	NP_065876.3:p.(Ser645=)	NC_000016.9:g.1706693C>T	(Likely) benign	1 lab	32a81150fc
15:22925955 MISSING T>Alt too long to show for this DUP	15	22925955	23066837	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22925956_23066837dup	VUS	1 lab	32a9b04055
2:25497802 DNMT3A C>T	2	25497802	25497802	C	T	DNMT3A	c.639+8G>A	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25497802C>T	(Likely) benign	1 lab	32ae85648a
X:77372832 PGK1 A>G	X	77372832	77372832	A	G	PGK1	c.441A>G	NM_000291.4	NP_000282.1:p.(Ile147Met)	NC_000023.10:g.77372832A>G	VUS	1 lab	32b03929ae
3:10916701 SLC6A11 G>A	3	10916701	10916701	G	A	SLC6A11	c.812G>A	NM_014229.3	NP_055044.1:p.(Arg271Gln)	NC_000003.11:g.10916701G>A	VUS	1 lab	32b1ab0f43
14:25097362 MISSING Ref too long to show for this DEL>G	14	25097362	25118649	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.25097363_25118649del	VUS	1 lab	32b341f2d6
11:118015928 SCN4B G>A	11	118015928	118015928	G	A	SCN4B	c.78C>T	NM_174934.4	NP_777594.1:p.(Pro26=)	NC_000011.9:g.118015928G>A	(Likely) benign	1 lab	32b45063bc
17:41246156 BRCA1 G>A	17	41246156	41246156	G	A	BRCA1	c.1392C>T	NM_007294.4	NP_009225.1:p.(Thr464=)	NC_000017.10:g.41246156G>A	(Likely) benign	1 lab	32b58a9f24
13:32914021 BRCA2 A>C	13	32914021	32914021	A	C	BRCA2	c.5529A>C	NM_000059.4	NP_000050.3:p.(Ala1843=)	NC_000013.10:g.32914021A>C	(Likely) benign	1 lab	32b8341fab
22:50660137 TUBGCP6 G>A	22	50660137	50660137	G	A	TUBGCP6	c.2651C>T	NM_020461.4	NP_065194.3:p.(Ala884Val)	NC_000022.10:g.50660137G>A	(Likely) benign	1 lab	32b9247d01
5:38511874 LIFR C>A	5	38511874	38511874	C	A	LIFR	c.736+18G>T	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38511874C>A	(Likely) benign	1 lab	32badd3640
6:32017079 TNXB C>T	6	32017079	32017079	C	T	TNXB	c.9719G>A	NM_019105.8	NP_061978.6:p.(Arg3240His)	NC_000006.11:g.32017079C>T	VUS	1 lab	32bb334d35
15:48426666 SLC24A5 C>A	15	48426666	48426666	C	A	SLC24A5	c.420C>A	NM_205850.3	NP_995322.1:p.(Ser140Arg)	NC_000015.9:g.48426666C>A	VUS	1 lab	32bbcfaa01
15:85384096 ALPK3 C>T	15	85384096	85384096	C	T	ALPK3	c.1586C>T	NM_020778.5	NP_065829.4:p.(Ala529Val)	NC_000015.9:g.85384096C>T	VUS	1 lab	32bf30accd
2:185800904 MISSING Ref too long to show for this DEL>C	2	185800904	185851795	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.185800905_185851795del	VUS	1 lab	32bf3ce226
12:111351142 MYL2 C>G	12	111351142	111351142	C	G	MYL2	c.275-14G>C	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351142C>G	(Likely) benign	1 lab	32c2d63507
19:13136046 NFIX GC>G	19	13136046	13136047	GC	G	NFIX	c.264del	NM_001271043.2	NP_001257972.1:p.(Lys89ArgfsTer13)	NC_000019.9:g.13136047del	(Likely) pathogenic	1 lab	32c383657c
3:25470248 RARB C>G	3	25470248	25470248	C	G	RARB	c.26C>G	NM_000965.5	NP_000956.2:p.(Ser9Ter)	NC_000003.11:g.25470248C>G	VUS	1 lab	3388c85d5c
8:10470456 RP1L1 G>C	8	10470456	10470456	G	C	RP1L1	c.1152C>G	NM_178857.6	NP_849188.4:p.(Pro384=)	NC_000008.10:g.10470456G>C	(Likely) benign	1 lab	32c81fb31e
X:70444159 GJB1 G>A	X	70444159	70444159	G	A	GJB1	c.602G>A	NM_000166.6	NP_000157.1:p.(Cys201Tyr)	NC_000023.10:g.70444159G>A	(Likely) pathogenic	1 lab	32c84e3bf3
2:179647786 TTN T>G	2	179647786	179647786	T	G	TTN	c.2847A>C	NM_133378.4	NP_596869.4:p.(Leu949Phe)	NC_000002.11:g.179647786T>G	VUS	1 lab	32c8995cd1
9:130248080 LRSAM1 C>G	9	130248080	130248080	C	G	LRSAM1	c.1225C>G	NM_138361.5	NP_612370.3:p.(Gln409Glu)	NC_000009.11:g.130248080C>G	(Likely) benign	1 lab	32ca3ea147
11:320723 IFITM3 C>T	11	320723	320723	C	T	IFITM3	c.91G>A	NM_021034.3	NP_066362.2:p.(Val31Met)	NC_000011.9:g.320723C>T	(Likely) benign	1 lab	32caa3948e
3:63898373 ATXN7 G>GCCC	3	63898373	63898375	G	GCCC	ATXN7	c.100_101insCCC	NM_000333.4	NP_000324.1:p.(Gln33_Gln34insPro)	NC_000003.11:g.63898374_63898375insCCC	(Likely) benign	1 lab	32cb44aefe
5:140056935 HARS1 A>G	5	140056935	140056935	A	G	HARS1	c.740T>C	NM_001258041.3	NP_001244970.1:p.(Ile247Thr)	NC_000005.9:g.140056935A>G	VUS	1 lab	32cec752e5
14:105179950 INF2 C>T	14	105179950	105179950	C	T	INF2	c.3040+7C>T	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105179950C>T	(Likely) benign	1 lab	32d3b90c0c
5:147807003 FBXO38 A>G	5	147807003	147807003	A	G	FBXO38	c.2146A>G	NM_030793.5	NP_110420.3:p.(Ser716Gly)	NC_000005.9:g.147807003A>G	(Likely) benign	1 lab	32f3610fb9
2:179398823 TTN G>A	2	179398823	179398823	G	A	TTN	c.102519C>T	NM_001267550.2	NP_001254479.2:p.(Gly34173=)	NC_000002.11:g.179398823G>A	(Likely) benign	1 lab	32d7e9a603
7:65447036 GUSB CCA>C	7	65447036	65447038	CCA	C	GUSB	c.133_134del	NM_000181.4	NP_000172.2:p.(Trp45GlufsTer8)	NC_000007.13:g.65447037_65447038del	(Likely) pathogenic	1 lab	32d9258019
19:55286882 KIR2DL1 A>G	19	55286882	55286882	A	G	KIR2DL1	c.636A>G	NM_014218.3	NP_055033.2:p.(Ser212=)	NC_000019.9:g.55286882A>G	(Likely) benign	1 lab	32d9aa0358
2:56145071 EFEMP1 T>C	2	56145071	56145071	T	C	EFEMP1	c.246A>G	NM_001039348.3	NP_001034437.1:p.(Glu82=)	NC_000002.11:g.56145071T>C	(Likely) benign	1 lab	32da2ddeb7
1:179078173 ABL2 A>C	1	179078173	179078173	A	C	ABL2	c.2229T>G	NM_007314.4	NP_009298.1:p.(Gly743=)	NC_000001.10:g.179078173A>C	(Likely) benign	1 lab	32db5ee2ef
2:137870772 THSD7B Ref too long to show for this DEL>T	2	137870772	138216757	Ref too long to show for this DEL	T	THSD7B	c.1200-1921_3138+8164del	NM_001316349.2	NP_001303278.1:p.?	NC_000002.11:g.137870773_138216757del	VUS	1 lab	32de9e6642
11:1862757 TNNI2 G>T	11	1862757	1862757	G	T	TNNI2	c.525G>T	NM_001145829.2	NP_001139301.1:p.(Lys175Asn)	NC_000011.9:g.1862757G>T	(Likely) pathogenic	1 lab	32deeb44b8
2:238257213 COL6A3 C>G	2	238257213	238257213	C	G	COL6A3	c.6930+43G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238257213C>G	(Likely) benign	1 lab	32e120cdbc
5:151051340 SPARC C>G	5	151051340	151051340	C	G	SPARC	c.209-85G>C	NM_003118.4	NP_003109.1:p.?	NC_000005.9:g.151051340C>G	(Likely) benign	1 lab	32e12be8ad
15:48780841 FBN1 G>A	15	48780841	48780841	G	A	FBN1	c.3083-151C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780841G>A	(Likely) benign	1 lab	32e23c469d
8:30949343 WRN T>C	8	30949343	30949343	T	C	WRN	c.1830-3T>C	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30949343T>C	(Likely) benign	1 lab	32e314b266
X:9660219 TBL1X C>T	X	9660219	9660219	C	T	TBL1X	c.816C>T	NM_005647.4	NP_005638.1:p.(Leu272=)	NC_000023.10:g.9660219C>T	(Likely) benign	1 lab	336d4dd809
9:107582205 ABCA1 C>T	9	107582205	107582205	C	T	ABCA1	c.3103+3G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582205C>T	(Likely) benign	1 lab	32e7767822
14:76524968 IFT43 T>G	14	76524968	76524968	T	G	IFT43	c.216-17T>G	NM_001255995.3	NP_001242924.1:p.?	NC_000014.8:g.76524968T>G	(Likely) benign	1 lab	32e7a4f498
17:61497429 TANC2 G>C	17	61497429	61497429	G	C	TANC2	c.4086G>C	NM_025185.4	NP_079461.2:p.(Gln1362His)	NC_000017.10:g.61497429G>C	VUS	1 lab	32ea8d8549
15:31353639 TRPM1 G>T	15	31353639	31353639	G	T	TRPM1	c.1213+6C>A	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31353639G>T	(Likely) benign	1 lab	32ec348593
5:121495904 MISSING Ref too long to show for this DEL>A	5	121495904	124080702	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.121495905_124080702del	VUS	1 lab	32ec48e016
1:167133367 MISSING G>Alt too long to show for this DUP	1	167133367	167349774	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.167133368_167349774dup	VUS	1 lab	33bb2c7bcf
8:144512335 MAFA GCGC>G	8	144512335	144512352	GCGC	G	MAFA	c.239_241del	NM_201589.4	NP_963883.2:p.(Gly80del)	NC_000008.10:g.144512350_144512352del	(Likely) benign	1 lab	32eeed6145
15:76914162 SCAPER TC>T	15	76914162	76914164	TC	T	SCAPER	c.2671del	NM_001353009.2	NP_001339938.1:p.(Glu891AsnfsTer5)	NC_000015.9:g.76914164del	(Likely) pathogenic	1 lab	32f2128b1c
7:81641570 CACNA2D1 GAA>G	7	81641570	81641583	GAA	G	CACNA2D1	c.1273-13_1273-12del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641582_81641583del	(Likely) benign	1 lab	32f6722695
2:179453997 TTN T>C	2	179453997	179453997	T	C	TTN	c.62455A>G	NM_001267550.2	NP_001254479.2:p.(Lys20819Glu)	NC_000002.11:g.179453997T>C	VUS	1 lab	32f7a39696
17:30796148 PSMD11 C>T	17	30796148	30796148	C	T	PSMD11	c.580C>T	NM_001270482.2	NP_001257411.1:p.(Arg194Ter)	NC_000017.10:g.30796148C>T	VUS	1 lab	32f8fab8bb
19:11215906 LDLR G>A	19	11215906	11215906	G	A	LDLR	c.324G>A	NM_000527.5	NP_000518.1:p.(Thr108=)	NC_000019.9:g.11215906G>A	(Likely) benign	1 lab	32fc7b040b
2:97818259 ANKRD36 AGG>A	2	97818259	97818261	AGG	A	ANKRD36	c.1182_1183del	NM_001354587.1	NP_001341516.1:p.(Glu394AspfsTer3)	NC_000002.11:g.97818260_97818261del	(Likely) benign	1 lab	32fe13c9e6
11:47353746 MYBPC3 T>TTGAA	11	47353746	47353747	T	TTGAA	MYBPC3	c.3690_3691insTTCA	NM_000256.3	NP_000247.2:p.(Ser1231PhefsTer12)	NC_000011.9:g.47353746_47353747insTGAA	(Likely) pathogenic	1 lab	32fe4dc872
7:73477514 ELN C>T	7	73477514	73477514	C	T	ELN	c.1818C>T	NM_000501.4	NP_000492.2:p.(Leu606=)	NC_000007.13:g.73477514C>T	(Likely) benign	1 lab	32fec88dee
3:176710445 MISSING A>Alt too long to show for this DUP	3	176710445	176862868	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.176710446_176862868dup	VUS	1 lab	358ef1376c
13:33332229 PDS5B C>T	13	33332229	33332229	C	T	PDS5B	c.3061C>T	NM_015032.4	NP_055847.1:p.(Leu1021Phe)	NC_000013.10:g.33332229C>T	(Likely) benign	1 lab	32ff79e43f
17:80045044 FASN C>T	17	80045044	80045044	C	T	FASN	c.3309G>A	NM_004104.5	NP_004095.4:p.(Pro1103=)	NC_000017.10:g.80045044C>T	(Likely) benign	1 lab	32ffe11faa
10:92678744 ANKRD1 A>ATATATATATATAT	10	92678744	92678745	A	ATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATAT	(Likely) benign	1 lab	3300caa7d2
10:75849852 VCL G>C	10	75849852	75849852	G	C	VCL	c.1248G>C	NM_014000.3	NP_054706.1:p.(Arg416=)	NC_000010.10:g.75849852G>C	(Likely) benign	1 lab	3300f35e79
11:95578270 MTMR2 C>T	11	95578270	95578270	C	T	MTMR2	c.1017G>A	NM_001243571.2	NP_001230500.1:p.(Thr339=)	NC_000011.9:g.95578270C>T	(Likely) benign	1 lab	3303c600fc
8:22064836 BMP1 C>T	8	22064836	22064836	C	T	BMP1	c.2382C>T	NM_006129.5	NP_006120.1:p.(Ile794=)	NC_000008.10:g.22064836C>T	(Likely) benign	1 lab	3303d57184
12:2711318 CACNA1C C>T	12	2711318	2711318	C	T	CACNA1C	c.2960+192C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2711318C>T	(Likely) benign	1 lab	3304f7b768
13:20625711 ZMYM2 CAGAA>C	13	20625711	20625717	CAGAA	C	ZMYM2	c.2434_2437del	NM_003453.6	NP_003444.1:p.(Lys812AspfsTer18)	NC_000013.10:g.20625714_20625717del	(Likely) pathogenic	1 lab	33066c9f84
15:48738899 FBN1 G>T	15	48738899	48738899	G	T	FBN1	c.5788+4C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48738899G>T	(Likely) benign	1 lab	3306fc03cd
13:23519916 MISSING Ref too long to show for this DEL>G	13	23519916	24936848	Ref too long to show for this DEL	G	MISSING				NC_000013.10:g.23519917_24936848del	VUS	1 lab	3307e4cd60
2:189859759 COL3A1 T>C	2	189859759	189859759	T	C	COL3A1	c.1456-13T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189859759T>C	(Likely) benign	1 lab	330a429e64
7:130295385 MISSING T>Alt too long to show for this DUP	7	130295385	130379273	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.130295389_130379273dup	VUS	1 lab	330b820415
8:1893631 ARHGEF10 C>T	8	1893631	1893631	C	T	ARHGEF10	c.3295-16C>T	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1893631C>T	(Likely) benign	1 lab	330e3a5ef8
4:114286357 ANK2 ATGTG>A	4	114286357	114286388	ATGTG	A	ANK2	c.11032+47_11032+50del	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286385_114286388del	(Likely) benign	1 lab	330ed21765
11:17552952 USH1C C>T	11	17552952	17552952	C	T	USH1C	c.242G>A	NM_153676.4	NP_710142.1:p.(Arg81His)	NC_000011.9:g.17552952C>T	VUS	1 lab	3310381cb2
2:21266223 APOB T>C	2	21266223	21266223	T	C	APOB	c.121+162A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266223T>C	(Likely) benign	1 lab	3311a75731
10:105824332 MISSING Ref too long to show for this DEL>C	10	105824332	105890455	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.105824333_105890455del	VUS	1 lab	331557016c
2:219679621 CYP27A1 C>T	2	219679621	219679621	C	T	CYP27A1	c.1477-13C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219679621C>T	(Likely) benign	1 lab	33188a0d75
2:44052164 ABCG5 A>T	2	44052164	44052164	A	T	ABCG5	c.775-7T>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052164A>T	(Likely) pathogenic	1 lab	3319a4223b
1:16893771 NBPF1 A>C	1	16893771	16893771	A	C	NBPF1	c.2742T>G	NM_017940.6	NP_060410.3:p.(Pro914=)	NC_000001.10:g.16893771A>C	(Likely) benign	1 lab	3319db4071
5:140062739 HARS1 A>C	5	140062739	140062739	A	C	HARS1	c.246T>G	NM_002109.6	NP_002100.2:p.(Arg82=)	NC_000005.9:g.140062739A>C	(Likely) benign	1 lab	331a9a779c
12:30833155 IPO8 G>A	12	30833155	30833155	G	A	IPO8	c.639+261C>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30833155G>A	(Likely) benign	1 lab	331e319f33
X:118603929 SLC25A5 C>T	X	118603929	118603929	C	T	SLC25A5	c.417C>T	NM_001152.5	NP_001143.2:p.(Thr139=)	NC_000023.10:g.118603929C>T	(Likely) benign	1 lab	331e4531c7
8:22034338 BMP1 C>T	8	22034338	22034338	C	T	BMP1	c.552-136C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22034338C>T	(Likely) benign	1 lab	331f7ce967
X:37654510 CYBB Ref too long to show for this DEL>G	X	37654510	37658202	Ref too long to show for this DEL	G	CYBB	c.484-691_675-6del	NM_000397.4	NP_000388.2:p.?	NC_000023.10:g.37654513_37658202del	VUS	1 lab	332bb265ba
16:57006378 CETP A>G	16	57006378	57006378	A	G	CETP	c.750+383A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006378A>G	(Likely) benign	1 lab	332be8ab52
13:32907093 BRCA2 C>T	13	32907093	32907093	C	T	BRCA2	c.1478C>T	NM_000059.4	NP_000050.3:p.(Pro493Leu)	NC_000013.10:g.32907093C>T	(Likely) benign	1 lab	333126df0c
1:156848968 NTRK1 C>CT	1	156848968	156848969	C	CT	NTRK1	c.1860_1861insT	NM_002529.4	NP_002520.2:p.(Pro621SerfsTer12)	NC_000001.10:g.156848968_156848969insT	(Likely) pathogenic	1 lab	3331e1feaf
11:119216286 MFRP T>C	11	119216286	119216286	T	C	MFRP	c.485A>G	NM_031433.4	NP_113621.1:p.(Asp162Gly)	NC_000011.9:g.119216286T>C	(Likely) benign	1 lab	3332123919
17:45299741 MYL4 C>T	17	45299741	45299741	C	T	MYL4	c.488-5C>T	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45299741C>T	(Likely) benign	1 lab	3335f4ec09
7:128616001 TNPO3 A>C	7	128616001	128616001	A	C	TNPO3	c.2062-12T>G	NM_012470.4	NP_036602.1:p.?	NC_000007.13:g.128616001A>C	(Likely) benign	1 lab	333ccc381b
9:79968309 VPS13A G>T	9	79968309	79968309	G	T	VPS13A	c.7420-16G>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79968309G>T	(Likely) benign	1 lab	333ff742c7
10:126090340 OAT G>A	10	126090340	126090340	G	A	OAT	c.969C>T	NM_000274.4	NP_000265.1:p.(Tyr323=)	NC_000010.10:g.126090340G>A	(Likely) benign	1 lab	334355cc85
2:44080011 ABCG8 A>T	2	44080011	44080011	A	T	ABCG8	c.964+4A>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44080011A>T	VUS	1 lab	33437836e3
1:25881358 LDLRAP1 C>T	1	25881358	25881358	C	T	LDLRAP1	c.239C>T	NM_015627.3	NP_056442.2:p.(Ala80Val)	NC_000001.10:g.25881358C>T	VUS	1 lab	3343d4252b
22:21349779 LZTR1 C>T	22	21349779	21349779	C	T	LZTR1	c.1943-256C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21349779C>T	(Likely) pathogenic	1 lab	3347bda838
2:179483109 TTN G>A	2	179483109	179483109	G	A	TTN	c.47076C>T	NM_001267550.2	NP_001254479.2:p.(Tyr15692=)	NC_000002.11:g.179483109G>A	(Likely) benign	1 lab	33486bbd0d
2:69472475 ANTXR1 C>T	2	69472475	69472475	C	T	ANTXR1	c.1553C>T	NM_032208.3	NP_115584.1:p.(Ala518Val)	NC_000002.11:g.69472475C>T	(Likely) benign	1 lab	3349a3a26f
12:111652000 CUX2 C>T	12	111652000	111652000	C	T	CUX2	c.64-4C>T	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111652000C>T	(Likely) benign	1 lab	33549b00ea
X:48543933 WAS C>T	X	48543933	48543933	C	T	WAS	c.274-3C>T	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48543933C>T	VUS	1 lab	3354d8f208
14:74975653 LTBP2 C>T	14	74975653	74975653	C	T	LTBP2	c.3406G>A	NM_000428.3	NP_000419.1:p.(Val1136Met)	NC_000014.8:g.74975653C>T	VUS	1 lab	3355404768
21:47402576 COL6A1 G>A	21	47402576	47402576	G	A	COL6A1	c.126G>A	NM_001848.3	NP_001839.2:p.(Leu42=)	NC_000021.8:g.47402576G>A	VUS	1 lab	33555bd3a8
22:37162218 IFT27 A>G	22	37162218	37162218	A	G	IFT27	c.198T>C	NM_001177701.3	NP_001171172.1:p.(Ala66=)	NC_000022.10:g.37162218A>G	(Likely) benign	1 lab	3357ba38fd
14:45644627 FANCM T>C	14	45644627	45644627	T	C	FANCM	c.2670T>C	NM_020937.4	NP_065988.1:p.(Phe890=)	NC_000014.8:g.45644627T>C	(Likely) benign	1 lab	335a3fef51
1:63070323 ANGPTL3 T>C	1	63070323	63070323	T	C	ANGPTL3	c.1218T>C	NM_014495.4	NP_055310.1:p.(Asp406=)	NC_000001.10:g.63070323T>C	(Likely) benign	1 lab	335e92eab7
17:48431308 XYLT2 C>T	17	48431308	48431308	C	T	XYLT2	c.453C>T	NM_022167.4	NP_071450.2:p.(Pro151=)	NC_000017.10:g.48431308C>T	(Likely) benign	1 lab	336143280e
5:7892933 MTRR A>G	5	7892933	7892933	A	G	MTRR	c.1464A>G	NM_002454.3	NP_002445.2:p.(Val488=)	NC_000005.9:g.7892933A>G	(Likely) benign	1 lab	3361f1cd76
11:76959174 GDPD4 Ref too long to show for this DEL>G	11	76959174	76976999	Ref too long to show for this DEL	G	GDPD4	c.707+2504_865-2628del	NM_182833.3	NP_878253.1:p.?	NC_000011.9:g.76959176_76976999del	VUS	1 lab	33633b54b0
11:118963750 HMBS G>A	11	118963750	118963750	G	A	HMBS	c.912+19G>A	NM_000190.4	NP_000181.2:p.?	NC_000011.9:g.118963750G>A	(Likely) benign	1 lab	336453ad06
17:60678167 TLK2 A>G	17	60678167	60678167	A	G	TLK2	c.1772A>G	NM_001284333.3	NP_001271262.1:p.(Tyr591Cys)	NC_000017.10:g.60678167A>G	(Likely) pathogenic	1 lab	3368b3c140
7:100421381 EPHB4 G>C	7	100421381	100421381	G	C	EPHB4	c.296C>G	NM_004444.5	NP_004435.3:p.(Ser99Cys)	NC_000007.13:g.100421381G>C	VUS	1 lab	336b251c87
9:137717664 COL5A1 G>T	9	137717664	137717664	G	T	COL5A1	c.4981G>T	NM_000093.5	NP_000084.3:p.(Gly1661Ter)	NC_000009.11:g.137717664G>T	(Likely) pathogenic	1 lab	336bd7070b
15:45403978 DUOX2 G>A	15	45403978	45403978	G	A	DUOX2	c.501C>T	NM_014080.5	NP_054799.4:p.(Asn167=)	NC_000015.9:g.45403978G>A	(Likely) benign	1 lab	336e24e99a
17:48434493 XYLT2 G>A	17	48434493	48434493	G	A	XYLT2	c.1821G>A	NM_022167.4	NP_071450.2:p.(Thr607=)	NC_000017.10:g.48434493G>A	(Likely) benign	1 lab	336f14ebae
1:25870597 LDLRAP1 C>T	1	25870597	25870597	C	T	LDLRAP1	c.88+320C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870597C>T	(Likely) benign	1 lab	336ff777fe
9:107586791 ABCA1 C>A	9	107586791	107586791	C	A	ABCA1	c.2611G>T	NM_005502.4	NP_005493.2:p.(Asp871Tyr)	NC_000009.11:g.107586791C>A	(Likely) benign	1 lab	3372cc3440
10:13158257 OPTN G>C	10	13158257	13158257	G	C	OPTN	c.553-10G>C	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13158257G>C	(Likely) benign	1 lab	3374afacfa
15:28518102 HERC2 C>T	15	28518102	28518102	C	T	HERC2	c.849G>A	NM_004667.6	NP_004658.3:p.(Leu283=)	NC_000015.9:g.28518102C>T	(Likely) benign	1 lab	33758e3f05
16:74481457 MISSING Ref too long to show for this DEL>G	16	74481457	80577260	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.74481458_80577260del	(Likely) pathogenic	1 lab	33772714c7
12:21375333 SLCO1B1 T>A	12	21375333	21375333	T	A	SLCO1B1	c.1747+35T>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375333T>A	(Likely) benign	1 lab	337bb1306b
3:98510787 MISSING Ref too long to show for this DEL>A	3	98510787	98613255	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.98510791_98613255del	VUS	1 lab	337cedfcd5
X:135960247 RBMX T>TTTGCATTC	X	135960247	135960248	T	TTTGCATTC	RBMX	c.217-3_217-2insGAATGCAA	NM_002139.4	NP_002130.2:p.?	NC_000023.10:g.135960247_135960248insTTGCATTC	(Likely) benign	1 lab	33800ef443
15:66729072 MAP2K1 A>G	15	66729072	66729072	A	G	MAP2K1	c.292-12A>G	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66729072A>G	(Likely) benign	1 lab	3381dc8854
2:27684235 IFT172 T>C	2	27684235	27684235	T	C	IFT172	c.2343A>G	NM_015662.3	NP_056477.1:p.(Lys781=)	NC_000002.11:g.27684235T>C	(Likely) benign	1 lab	33822b4081
5:148411255 SH3TC2 A>T	5	148411255	148411255	A	T	SH3TC2	c.1002-5T>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148411255A>T	VUS	1 lab	33857d9526
16:11643576 LITAF G>T	16	11643576	11643576	G	T	LITAF	c.403C>A	NM_004862.4	NP_004853.2:p.(Pro135Thr)	NC_000016.9:g.11643576G>T	(Likely) pathogenic	1 lab	3385b99bce
11:68702842 IGHMBP2 C>T	11	68702842	68702842	C	T	IGHMBP2	c.1708C>T	NM_002180.3	NP_002171.2:p.(Arg570Ter)	NC_000011.9:g.68702842C>T	(Likely) pathogenic	1 lab	3388fb94f3
18:34232805 FHOD3 A>G	18	34232805	34232805	A	G	FHOD3	c.1559A>G	NM_001281740.3	NP_001268669.1:p.(His520Arg)	NC_000018.9:g.34232805A>G	VUS	1 lab	3389417c7b
11:68178963 LRP5 G>A	11	68178963	68178963	G	A	LRP5	c.2378G>A	NM_002335.4	NP_002326.2:p.(Gly793Glu)	NC_000011.9:g.68178963G>A	VUS	1 lab	338ef2892a
14:60976410 SIX6 G>A	14	60976410	60976410	G	A	SIX6	c.294G>A	NM_007374.3	NP_031400.2:p.(Glu98=)	NC_000014.8:g.60976410G>A	(Likely) benign	1 lab	33911dada5
16:88499740 ZNF469 C>G	16	88499740	88499740	C	G	ZNF469	c.5862C>G	NM_001367624.2	NP_001354553.1:p.(Pro1954=)	NC_000016.9:g.88499740C>G	(Likely) benign	1 lab	33914bcda7
22:25007109 GGT1 G>A	22	25007109	25007109	G	A	GGT1	c.61G>A	NM_001288833.2	NP_001275762.1:p.(Gly21Ser)	NC_000022.10:g.25007109G>A	(Likely) benign	1 lab	3392a3b314
1:55505603 PCSK9 G>GGAGGAC	1	55505603	55505616	G	GGAGGAC	PCSK9	c.101_106dup	NM_174936.4	NP_777596.2:p.(Glu34_Asp35dup)	NC_000001.10:g.55505611_55505616dup	VUS	1 lab	33988fedcd
7:100424585 EPHB4 CCG>C	7	100424585	100424588	CCG	C	EPHB4	c.52+14_52+15del	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100424587_100424588del	(Likely) benign	1 lab	3398e6471f
14:23853801 MYH6 G>A	14	23853801	23853801	G	A	MYH6	c.5415C>T	NM_002471.4	NP_002462.2:p.(Ile1805=)	NC_000014.8:g.23853801G>A	(Likely) benign	1 lab	3398fb2a56
2:179470339 TTN G>A	2	179470339	179470339	G	A	TTN	c.53683C>T	NM_001267550.2	NP_001254479.2:p.(Gln17895Ter)	NC_000002.11:g.179470339G>A	(Likely) pathogenic	1 lab	339bd1853f
8:19805776 LPL C>T	8	19805776	19805776	C	T	LPL	c.174C>T	NM_000237.3	NP_000228.1:p.(Pro58=)	NC_000008.10:g.19805776C>T	(Likely) benign	1 lab	33a3cdc448
9:135781505 TSC1 G>C	9	135781505	135781505	G	C	TSC1	c.1460C>G	NM_000368.5	NP_000359.1:p.(Ser487Cys)	NC_000009.11:g.135781505G>C	(Likely) benign	1 lab	33a43f4f78
15:48780419 FBN1 T>C	15	48780419	48780419	T	C	FBN1	c.3228A>G	NM_000138.5	NP_000129.3:p.(Ile1076Met)	NC_000015.9:g.48780419T>C	VUS	1 lab	33a5254a3f
17:1554505 PRPF8 G>A	17	1554505	1554505	G	A	PRPF8	c.6750C>T	NM_006445.4	NP_006436.3:p.(Gly2250=)	NC_000017.10:g.1554505G>A	(Likely) benign	1 lab	33a7763b9e
7:150645530 KCNH2 A>C	7	150645530	150645530	A	C	KCNH2	c.2692+2T>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645530A>C	(Likely) benign	1 lab	33a8328df0
2:85662159 SH2D6 A>C	2	85662159	85662159	A	C	SH2D6	c.98-29A>C	NM_201594.3	NP_963888.2:p.?	NC_000002.11:g.85662159A>C	(Likely) benign	1 lab	33a8a0612f
7:128481902 FLNC G>A	7	128481902	128481902	G	A	FLNC	c.2121+281G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481902G>A	(Likely) benign	1 lab	33a93ae30b
9:107600251 ABCA1 T>C	9	107600251	107600251	T	C	ABCA1	c.1055-403A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107600251T>C	(Likely) benign	1 lab	33aa010042
12:125262998 SCARB1 TG>T	12	125262998	125263000	TG	T	SCARB1	c.*134del	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125263000del	(Likely) benign	1 lab	33aaf98974
19:50804977 MYH14 C>T	19	50804977	50804977	C	T	MYH14	c.5529C>T	NM_001145809.2	NP_001139281.1:p.(Ser1843=)	NC_000019.9:g.50804977C>T	(Likely) benign	1 lab	33b2006e57
2:179482094 TTN C>A	2	179482094	179482094	C	A	TTN	c.47718G>T	NM_001267550.2	NP_001254479.2:p.(Trp15906Cys)	NC_000002.11:g.179482094C>A	VUS	1 lab	33b5590dfb
2:179640552 TTN A>C	2	179640552	179640552	A	C	TTN	c.6039T>G	NM_001267550.2	NP_001254479.2:p.(Ile2013Met)	NC_000002.11:g.179640552A>C	VUS	1 lab	33b88ea8b9
10:53754232 PRKG1 Ref too long to show for this DEL>A	10	53754232	53807186	Ref too long to show for this DEL	A	PRKG1	c.763-60010_763-7058del	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53754234_53807186del	VUS	1 lab	33bcf7864e
11:66294179 BBS1 G>T	11	66294179	66294179	G	T	BBS1	c.1240G>T	NM_024649.5	NP_078925.3:p.(Glu414Ter)	NC_000011.9:g.66294179G>T	(Likely) pathogenic	1 lab	33be786afc
2:220283347 DES C>T	2	220283347	220283347	C	T	DES	c.163C>T	NM_001927.4	NP_001918.3:p.(Gln55Ter)	NC_000002.11:g.220283347C>T	VUS	1 lab	33c283e195
18:29102122 DSG2 C>T	18	29102122	29102122	C	T	DSG2	c.600C>T	NM_001943.5	NP_001934.2:p.(Ile200=)	NC_000018.9:g.29102122C>T	(Likely) benign	1 lab	33c4810fa8
14:23855275 MYH6 G>A	14	23855275	23855275	G	A	MYH6	c.5025C>T	NM_002471.4	NP_002462.2:p.(Ile1675=)	NC_000014.8:g.23855275G>A	(Likely) benign	1 lab	33c712d4ed
15:31341666 TRPM1 C>T	15	31341666	31341666	C	T	TRPM1	c.1535G>A	NM_001252020.2	NP_001238949.1:p.(Arg512His)	NC_000015.9:g.31341666C>T	VUS	1 lab	33c9821742
3:121346537 MISSING Ref too long to show for this DEL>T	3	121346537	121368705	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.121346539_121368705del	VUS	1 lab	33cb230822
10:112583626 RBM20 C>T	10	112583626	112583626	C	T	RBM20	c.3451+254C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583626C>T	(Likely) benign	1 lab	33ccb01614
21:47402545 COL6A1 C>G	21	47402545	47402545	C	G	COL6A1	c.98-3C>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47402545C>G	VUS	1 lab	33ce34239e
11:66333327 CTSF C>T	11	66333327	66333327	C	T	CTSF	c.939G>A	NM_003793.4	NP_003784.2:p.(Gly313=)	NC_000011.9:g.66333327C>T	(Likely) benign	1 lab	33cec9b212
1:247593035 NLRP3 G>A	1	247593035	247593035	G	A	NLRP3	c.2299G>A	NM_001243133.2	NP_001230062.1:p.(Gly767Ser)	NC_000001.10:g.247593035G>A	VUS	1 lab	33d16d31da
19:11224419 LDLR G>C	19	11224419	11224419	G	C	LDLR	c.1567G>C	NM_000527.5	NP_000518.1:p.(Val523Leu)	NC_000019.9:g.11224419G>C	(Likely) pathogenic	1 lab	33d2ba4657
18:77474679 CTDP1 T>C	18	77474679	77474679	T	C	CTDP1	c.1219T>C	NM_004715.5	NP_004706.3:p.(Trp407Arg)	NC_000018.9:g.77474679T>C	VUS	1 lab	33d3bc1de9
12:1005486 WNK1 C>T	12	1005486	1005486	C	T	WNK1	c.6613C>T	NM_001184985.2	NP_001171914.1:p.(Arg2205Cys)	NC_000012.11:g.1005486C>T	(Likely) benign	1 lab	33d523eb4e
9:111688828 ELP1 C>T	9	111688828	111688828	C	T	ELP1	c.441G>A	NM_003640.5	NP_003631.2:p.(Gln147=)	NC_000009.11:g.111688828C>T	(Likely) benign	1 lab	33d72932c4
12:40775070 MISSING Ref too long to show for this DEL>T	12	40775070	40816017	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.40775071_40816017del	VUS	1 lab	33d7b57276
11:123524518 SCN3B G>A	11	123524518	123524518	G	A	SCN3B	c.-9C>T	NM_018400.4	NP_060870.1:p.?	NC_000011.9:g.123524518G>A	(Likely) benign	1 lab	33de9b6717
11:2790130 KCNQ1 T>G	11	2790130	2790130	T	G	KCNQ1	c.1571T>G	NM_000218.3	NP_000209.2:p.(Val524Gly)	NC_000011.9:g.2790130T>G	(Likely) pathogenic	1 lab	33df913d0e
8:59409658 CYP7A1 A>G	8	59409658	59409658	A	G	CYP7A1	c.413T>C	NM_000780.4	NP_000771.2:p.(Leu138Ser)	NC_000008.10:g.59409658A>G	(Likely) pathogenic	1 lab	33e08919d4
6:32009634 TNXB C>T	6	32009634	32009634	C	T	TNXB	c.12541G>A	NM_019105.8	NP_061978.6:p.(Ala4181Thr)	NC_000006.11:g.32009634C>T	VUS	1 lab	33e14c3d18
9:95477657 BICD2 G>A	9	95477657	95477657	G	A	BICD2	c.2347C>T	NM_001003800.2	NP_001003800.1:p.(Arg783Cys)	NC_000009.11:g.95477657G>A	VUS	1 lab	33e30a09d6
11:9868638 SBF2 T>C	11	9868638	9868638	T	C	SBF2	c.2807-8A>G	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9868638T>C	(Likely) benign	1 lab	33e47c8213
6:7583584 DSP CT>C	6	7583584	7583587	CT	C	DSP	c.6092del	NM_004415.4	NP_004406.2:p.(Leu2031TrpfsTer2)	NC_000006.11:g.7583587del	(Likely) pathogenic	1 lab	33e6b8c968
11:2906480 CDKN1C G>A	11	2906480	2906480	G	A	CDKN1C	c.240C>T	NM_000076.2	NP_000067.1:p.(Thr80=)	NC_000011.9:g.2906480G>A	(Likely) benign	1 lab	33ea59122f
6:7565819 DSP C>T	6	7565819	7565819	C	T	DSP	c.939+66C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565819C>T	(Likely) benign	1 lab	33eb9eb80a
3:10128965 FANCD2 C>CTTT	3	10128965	10128984	C	CTTT	FANCD2	c.3466+34_3466+36dup	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10128982_10128984dup	(Likely) benign	1 lab	33eca6b103
X:24075862 EIF2S3 A>G	X	24075862	24075862	A	G	EIF2S3	c.374A>G	NM_001415.4	NP_001406.1:p.(Lys125Arg)	NC_000023.10:g.24075862A>G	(Likely) benign	1 lab	33ed326338
17:1559773 PRPF8 G>A	17	1559773	1559773	G	A	PRPF8	c.5706C>T	NM_006445.4	NP_006436.3:p.(Phe1902=)	NC_000017.10:g.1559773G>A	(Likely) benign	1 lab	33ed6604e4
18:58038826 MC4R C>T	18	58038826	58038826	C	T	MC4R	c.757G>A	NM_005912.3	NP_005903.2:p.(Val253Ile)	NC_000018.9:g.58038826C>T	VUS	1 lab	33efea10f5
9:107651406 ABCA1 T>C	9	107651406	107651406	T	C	ABCA1	c.137A>G	NM_005502.4	NP_005493.2:p.(Tyr46Cys)	NC_000009.11:g.107651406T>C	VUS	1 lab	33f121b35b
X:152091068 ZNF185 Ref too long to show for this DEL>A	X	152091068	152118299	Ref too long to show for this DEL	A	ZNF185	c.741-194_1505+4291del	NM_001395254.1	NP_001382183.1:p.?	NC_000023.10:g.152091070_152118299del	VUS	1 lab	33f475b83b
17:79496095 FSCN2 C>T	17	79496095	79496095	C	T	FSCN2	c.538C>T	NM_001077182.3	NP_001070650.1:p.(Arg180Trp)	NC_000017.10:g.79496095C>T	(Likely) benign	1 lab	33f4d292b1
2:179534225 TTN G>A	2	179534225	179534225	G	A	TTN	c.35471-51C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534225G>A	(Likely) benign	1 lab	33f546924e
17:48267206 COL1A1 C>T	17	48267206	48267206	C	T	COL1A1	c.2613+14G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267206C>T	(Likely) benign	1 lab	33f76bd44b
18:47089098 LIPG T>C	18	47089098	47089098	T	C	LIPG	c.97+323T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47089098T>C	(Likely) benign	1 lab	33f98e1507
17:44991422 MISSING G>Alt too long to show for this DUP	17	44991422	45067770	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.44991426_45067770dup	VUS	1 lab	33fa7b9730
6:32010720 TNXB C>T	6	32010720	32010720	C	T	TNXB	c.11919+8G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010720C>T	(Likely) benign	1 lab	3401ce2422
10:13336552 PHYH C>T	10	13336552	13336552	C	T	PHYH	c.290G>A	NM_006214.4	NP_006205.1:p.(Gly97Glu)	NC_000010.10:g.13336552C>T	VUS	1 lab	3405875c72
1:243776987 AKT3 C>T	1	243776987	243776987	C	T	AKT3	c.682G>A	NM_005465.7	NP_005456.1:p.(Val228Ile)	NC_000001.10:g.243776987C>T	(Likely) pathogenic	1 lab	34075f0524
1:27057852 ARID1A GC>G	1	27057852	27057853	GC	G	ARID1A	c.1561del	NM_006015.6	NP_006006.3:p.(Gln521SerfsTer98)	NC_000001.10:g.27057853del	(Likely) pathogenic	1 lab	3407df7001
12:125270877 SCARB1 C>T	12	125270877	125270877	C	T	SCARB1	c.1427G>A	NM_001367981.1	NP_001354910.1:p.(Arg476Gln)	NC_000012.11:g.125270877C>T	VUS	1 lab	340c562443
17:48275809 COL1A1 G>A	17	48275809	48275809	G	A	COL1A1	c.528C>T	NM_000088.4	NP_000079.2:p.(Ser176=)	NC_000017.10:g.48275809G>A	(Likely) benign	1 lab	340fc4cc5a
1:171406090 MISSING A>Alt too long to show for this DUP	1	171406090	171657912	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.171406093_171657912dup	VUS	1 lab	3414e48346
8:133906193 TG A>G	8	133906193	133906193	A	G	TG	c.3001+19A>G	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133906193A>G	(Likely) benign	1 lab	3418511ecb
1:46804032 MISSING Ref too long to show for this DEL>C	1	46804032	46834719	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.46804033_46834719del	VUS	1 lab	3419f86e82
1:201334383 TNNT2 A>G	1	201334383	201334383	A	G	TNNT2	c.317T>C	NM_001001430.3	NP_001001430.1:p.(Ile106Thr)	NC_000001.10:g.201334383A>G	VUS	1 lab	341ba9543f
6:79698070 PHIP G>GA	6	79698070	79698077	G	GA	PHIP	c.2320-5dup	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79698077dup	(Likely) benign	1 lab	341cf47964
7:102230602 RASA4 G>A	7	102230602	102230602	G	A	RASA4	c.1968+4C>T	NM_006989.6	NP_008920.5:p.?	NC_000007.13:g.102230602G>A	(Likely) benign	1 lab	341e382793
6:129823857 LAMA2 C>T	6	129823857	129823857	C	T	LAMA2	c.8298C>T	NM_000426.4	NP_000417.3:p.(Phe2766=)	NC_000006.11:g.129823857C>T	(Likely) benign	1 lab	341f8f2ae9
X:70443813 GJB1 A>T	X	70443813	70443813	A	T	GJB1	c.256A>T	NM_000166.6	NP_000157.1:p.(Thr86Ser)	NC_000023.10:g.70443813A>T	(Likely) pathogenic	1 lab	3420b10183
1:156107005 LMNA C>T	1	156107005	156107005	C	T	LMNA	c.1590C>T	NM_170707.4	NP_733821.1:p.(Leu530=)	NC_000001.10:g.156107005C>T	(Likely) benign	1 lab	3421c63303
1:201018189 CACNA1S C>T	1	201018189	201018189	C	T	CACNA1S	c.4280G>A	NM_000069.3	NP_000060.2:p.(Arg1427Lys)	NC_000001.10:g.201018189C>T	VUS	1 lab	3421e1ad77
16:68725621 CDH3 A>G	16	68725621	68725621	A	G	CDH3	c.1631-2A>G	NM_001317196.2	NP_001304125.1:p.?	NC_000016.9:g.68725621A>G	(Likely) pathogenic	1 lab	3422994cfc
1:55505545 PCSK9 CGCTGCCACT>C	1	55505545	55505559	CGCTGCCACT	C	PCSK9	c.41_49del	NM_174936.4	NP_777596.2:p.(Pro14_Leu16del)	NC_000001.10:g.55505551_55505559del	(Likely) benign	1 lab	3422e503b9
22:50902751 SBF1 C>T	22	50902751	50902751	C	T	SBF1	c.1749+7G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50902751C>T	(Likely) benign	1 lab	34277a3ede
1:27097615 ARID1A C>G	1	27097615	27097615	C	G	ARID1A	c.3204C>G	NM_006015.6	NP_006006.3:p.(Asn1068Lys)	NC_000001.10:g.27097615C>G	(Likely) pathogenic	1 lab	3429625416
3:53769440 CACNA1D C>T	3	53769440	53769440	C	T	CACNA1D	c.2721C>T	NM_000720.4	NP_000711.1:p.(Ile907=)	NC_000003.11:g.53769440C>T	(Likely) benign	1 lab	342c0511f5
1:74737346 TNNI3K G>T	1	74737346	74737346	G	T	TNNI3K	c.398G>T	NM_015978.3	NP_057062.1:p.(Gly133Val)	NC_000001.10:g.74737346G>T	VUS	1 lab	342cc8bd96
1:94463397 ABCA4 GTGCCCCAGGGCCAAC>G	1	94463397	94463413	GTGCCCCAGGGCCAAC	G	ABCA4	c.6729+5_6729+19del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94463399_94463413del	VUS	1 lab	34311cfd05
3:132229967 DNAJC13 C>T	3	132229967	132229967	C	T	DNAJC13	c.5172C>T	NM_015268.4	NP_056083.3:p.(Tyr1724=)	NC_000003.11:g.132229967C>T	(Likely) benign	1 lab	34327e1c3a
1:180772707 XPR1 G>A	1	180772707	180772707	G	A	XPR1	c.407G>A	NM_004736.4	NP_004727.2:p.(Ser136Asn)	NC_000001.10:g.180772707G>A	(Likely) pathogenic	1 lab	3435d846da
22:24143281 SMARCB1 C>T	22	24143281	24143281	C	T	SMARCB1	c.486C>T	NM_001317946.2	NP_001304875.1:p.(Ile162=)	NC_000022.10:g.24143281C>T	(Likely) benign	1 lab	343ad1b205
16:57003847 CETP G>A	16	57003847	57003847	G	A	CETP	c.461G>A	NM_000078.3	NP_000069.2:p.(Arg154Gln)	NC_000016.9:g.57003847G>A	(Likely) benign	1 lab	343c2b6e3e
8:42323448 SLC20A2 G>T	8	42323448	42323448	G	T	SLC20A2	c.290-13C>A	NM_001257180.2	NP_001244109.1:p.?	NC_000008.10:g.42323448G>T	(Likely) benign	1 lab	343d529cff
12:125270718 SCARB1 G>A	12	125270718	125270718	G	A	SCARB1	c.1586C>T	NM_001367981.1	NP_001354910.1:p.(Ala529Val)	NC_000012.11:g.125270718G>A	VUS	1 lab	343df1b308
12:20890066 SLCO1C1 C>T	12	20890066	20890066	C	T	SLCO1C1	c.1408C>T	NM_001145946.2	NP_001139418.1:p.(Arg470Ter)	NC_000012.11:g.20890066C>T	VUS	1 lab	34414edc4c
2:179471793 TTN C>A	2	179471793	179471793	C	A	TTN	c.53536G>T	NM_001267550.2	NP_001254479.2:p.(Gly17846Cys)	NC_000002.11:g.179471793C>A	VUS	1 lab	3442822623
3:38618469 SCN5A G>A	3	38618469	38618469	G	A	SCN5A	c.3391-197C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38618469G>A	(Likely) benign	1 lab	3444b3dd9d
15:42703899 CAPN3 G>T	15	42703899	42703899	G	T	CAPN3	c.2440-46G>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42703899G>T	(Likely) benign	1 lab	3446729364
7:154679358 DPP6 T>G	7	154679358	154679358	T	G	DPP6	c.2060-28T>G	NM_001936.5	NP_001927.3:p.?	NC_000007.13:g.154679358T>G	VUS	1 lab	3448de6e29
4:140270663 NAA15 TA>T	4	140270663	140270664	TA	T	NAA15	c.740del	NM_057175.5	NP_476516.1:p.(Tyr247LeufsTer28)	NC_000004.11:g.140270664del	(Likely) pathogenic	1 lab	344bc6dc66
13:51517508 RNASEH2B C>T	13	51517508	51517508	C	T	RNASEH2B	c.488C>T	NM_024570.4	NP_078846.2:p.(Thr163Ile)	NC_000013.10:g.51517508C>T	(Likely) pathogenic	1 lab	34516a2a7d
9:111631415 ELP1 T>G	9	111631415	111631415	T	G	ELP1	c.3979A>C	NM_003640.5	NP_003631.2:p.(Lys1327Gln)	NC_000009.11:g.111631415T>G	VUS	1 lab	3452de76b9
11:116661181 APOA5 T>C	11	116661181	116661181	T	C	APOA5	c.764A>G	NM_052968.5	NP_443200.2:p.(Glu255Gly)	NC_000011.9:g.116661181T>C	(Likely) benign	1 lab	34534c7356
10:90982295 LIPA A>C	10	90982295	90982295	A	C	LIPA	c.867T>G	NM_000235.4	NP_000226.2:p.(Ser289=)	NC_000010.10:g.90982295A>C	(Likely) benign	1 lab	34538c4bcf
11:1018340 MUC6 T>C	11	1018340	1018340	T	C	MUC6	c.4461A>G	NM_005961.3	NP_005952.2:p.(Pro1487=)	NC_000011.9:g.1018340T>C	(Likely) benign	1 lab	345471841f
17:649947 GEMIN4 C>T	17	649947	649947	C	T	GEMIN4	c.1336G>A	NM_015721.3	NP_056536.2:p.(Ala446Thr)	NC_000017.10:g.649947C>T	(Likely) benign	1 lab	34553c6eff
19:10887870 DNM2 C>T	19	10887870	10887870	C	T	DNM2	c.666C>T	NM_001005360.3	NP_001005360.1:p.(Asn222=)	NC_000019.9:g.10887870C>T	(Likely) benign	1 lab	3455f4dc84
10:71144256 HK1 A>G	10	71144256	71144256	A	G	HK1	c.1683+19A>G	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71144256A>G	(Likely) benign	1 lab	3458883b3b
5:90006888 ADGRV1 G>T	5	90006888	90006888	G	T	ADGRV1	c.8903+12G>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90006888G>T	(Likely) benign	1 lab	345b98b7c5
7:128483567 FLNC G>A	7	128483567	128483567	G	A	FLNC	c.2747G>A	NM_001458.5	NP_001449.3:p.(Arg916Gln)	NC_000007.13:g.128483567G>A	VUS	1 lab	346088b132
12:21331638 SLCO1B1 C>T	12	21331638	21331638	C	T	SLCO1B1	c.610C>T	NM_006446.5	NP_006437.3:p.(His204Tyr)	NC_000012.11:g.21331638C>T	(Likely) benign	1 lab	34630e2af3
6:35467757 TULP1 C>T	6	35467757	35467757	C	T	TULP1	c.1495+1G>A	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35467757C>T	(Likely) pathogenic	1 lab	3463e00fc4
6:10764850 MAK T>G	6	10764850	10764850	T	G	MAK	c.1793-11A>C	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10764850T>G	(Likely) benign	1 lab	3465b2f45e
18:47088735 LIPG G>T	18	47088735	47088735	G	T	LIPG	c.57G>T	NM_006033.4	NP_006024.1:p.(Ala19=)	NC_000018.9:g.47088735G>T	(Likely) benign	1 lab	346622314f
9:107578895 ABCA1 A>AATGGGAGG	9	107578895	107578915	A	AATGGGAGG	ABCA1	c.3536-277_3536-270dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578908_107578915dup	(Likely) benign	1 lab	3467338519
2:189861919 COL3A1 G>A	2	189861919	189861919	G	A	COL3A1	c.1790G>A	NM_000090.4	NP_000081.2:p.(Gly597Asp)	NC_000002.11:g.189861919G>A	(Likely) pathogenic	1 lab	346e9adf4b
7:44151443 AEBP1 G>A	7	44151443	44151443	G	A	AEBP1	c.1841-10G>A	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44151443G>A	(Likely) benign	1 lab	3470f27e4a
18:10699077 PIEZO2 G>A	18	10699077	10699077	G	A	PIEZO2	c.6201C>T	NM_022068.4	NP_071351.2:p.(Ser2067=)	NC_000018.9:g.10699077G>A	(Likely) benign	1 lab	3471acfc63
1:25880528 LDLRAP1 C>T	1	25880528	25880528	C	T	LDLRAP1	c.204C>T	NM_015627.3	NP_056442.2:p.(Ala68=)	NC_000001.10:g.25880528C>T	(Likely) benign	1 lab	3471f95451
1:116311049 CASQ2 G>A	1	116311049	116311049	G	A	CASQ2	c.114C>T	NM_001232.4	NP_001223.2:p.(Ser38=)	NC_000001.10:g.116311049G>A	(Likely) benign	1 lab	3472f1a03e
2:65571896 SPRED2 C>CGTCCATTG	2	65571896	65571904	C	CGTCCATTG	SPRED2	c.153_160dup	NM_181784.3	NP_861449.2:p.(Arg54ProfsTer25)	NC_000002.11:g.65571897_65571904dup	VUS	1 lab	3474daaa4c
2:44099444 ABCG8 C>T	2	44099444	44099444	C	T	ABCG8	c.1210C>T	NM_022437.3	NP_071882.1:p.(Arg404Cys)	NC_000002.11:g.44099444C>T	VUS	1 lab	3477d88138
9:107624350 ABCA1 CACACACAT>C	9	107624350	107624365	CACACACAT	C	ABCA1	c.422-277_422-270del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624358_107624365del	(Likely) benign	1 lab	347823a31d
2:25057496 ADCY3 AG>A	2	25057496	25057498	AG	A	ADCY3	c.1824del	NM_004036.5	NP_004027.2:p.(Phe609SerfsTer49)	NC_000002.11:g.25057498del	(Likely) pathogenic	1 lab	3478a73168
1:55517939 PCSK9 C>T	1	55517939	55517939	C	T	PCSK9	c.524-12C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55517939C>T	(Likely) benign	1 lab	347952dd06
3:8775589 CAV3 C>G	3	8775589	8775589	C	G	CAV3	c.27C>G	NM_033337.3	NP_203123.1:p.(Leu9=)	NC_000003.11:g.8775589C>G	(Likely) benign	1 lab	347bcfbc46
12:11214080 TAS2R46 G>A	12	11214080	11214080	G	A	TAS2R46	c.814C>T	NM_176887.2	NP_795368.2:p.(Pro272Ser)	NC_000012.11:g.11214080G>A	(Likely) benign	1 lab	347c1cfbeb
12:32948773 PKP2 C>T	12	32948773	32948773	C	T	PKP2	c.2489+270G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32948773C>T	(Likely) benign	1 lab	347ce57376
X:31854904 DMD C>T	X	31854904	31854904	C	T	DMD	c.7131G>A	NM_004006.3	NP_003997.2:p.(Pro2377=)	NC_000023.10:g.31854904C>T	(Likely) benign	1 lab	347e0173bd
6:110037734 FIG4 G>A	6	110037734	110037734	G	A	FIG4	c.252G>A	NM_014845.6	NP_055660.1:p.(Ser84=)	NC_000006.11:g.110037734G>A	(Likely) benign	1 lab	3483d94fe6
8:55540573 RP1 C>T	8	55540573	55540573	C	T	RP1	c.4131C>T	NM_006269.2	NP_006260.1:p.(Asp1377=)	NC_000008.10:g.55540573C>T	(Likely) benign	1 lab	34844018c0
15:48760122 FBN1 G>A	15	48760122	48760122	G	A	FBN1	c.4747+13C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760122G>A	(Likely) benign	1 lab	3486b7016a
4:114072299 ANK2 C>T	4	114072299	114072299	C	T	ANK2	c.85-23273C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114072299C>T	(Likely) benign	1 lab	348709b6b0
7:151262910 PRKAG2 G>A	7	151262910	151262910	G	A	PRKAG2	c.1295C>T	NM_016203.4	NP_057287.2:p.(Thr432Met)	NC_000007.13:g.151262910G>A	VUS	1 lab	3488b7a026
17:7214413 EIF5A T>A	17	7214413	7214413	T	A	EIF5A	c.242T>A	NM_001970.5	NP_001961.1:p.(Val81Asp)	NC_000017.10:g.7214413T>A	(Likely) pathogenic	1 lab	348938539e
15:48800603 FBN1 T>C	15	48800603	48800603	T	C	FBN1	c.1837+176A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48800603T>C	(Likely) benign	1 lab	348cf53610
6:7569564 DSP T>A	6	7569564	7569564	T	A	DSP	c.1565T>A	NM_004415.4	NP_004406.2:p.(Leu522His)	NC_000006.11:g.7569564T>A	VUS	1 lab	34950b7120
10:28491031 MISSING Ref too long to show for this DEL>T	10	28491031	29678482	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.28491032_29678482del	(Likely) pathogenic	1 lab	349557574f
5:908588 TRIP13 A>G	5	908588	908588	A	G	TRIP13	c.866+12A>G	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.908588A>G	(Likely) benign	1 lab	3499a18856
22:50659481 TUBGCP6 G>A	22	50659481	50659481	G	A	TUBGCP6	c.3307C>T	NM_020461.4	NP_065194.3:p.(Arg1103Trp)	NC_000022.10:g.50659481G>A	(Likely) benign	1 lab	349a428809
15:85410409 ALPK3 C>T	15	85410409	85410409	C	T	ALPK3	c.4724-139C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410409C>T	(Likely) benign	1 lab	349bd59e65
X:38163942 RPGR C>T	X	38163942	38163942	C	T	RPGR	c.880G>A	NM_001034853.2	NP_001030025.1:p.(Asp294Asn)	NC_000023.10:g.38163942C>T	(Likely) benign	1 lab	349be608e4
11:108199726 ATM A>C	11	108199726	108199726	A	C	ATM	c.7090-22A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108199726A>C	(Likely) benign	1 lab	349d378376
1:161275682 MPZ C>A	1	161275682	161275682	C	A	MPZ	c.731G>T	NM_000530.8	NP_000521.2:p.(Arg244Leu)	NC_000001.10:g.161275682C>A	(Likely) benign	1 lab	349d88c91f
1:25883649 LDLRAP1 C>G	1	25883649	25883649	C	G	LDLRAP1	c.350C>G	NM_015627.3	NP_056442.2:p.(Ser117Cys)	NC_000001.10:g.25883649C>G	VUS	1 lab	349f302d9f
19:38994925 RYR1 C>T	19	38994925	38994925	C	T	RYR1	c.7992C>T	NM_000540.3	NP_000531.2:p.(Phe2664=)	NC_000019.9:g.38994925C>T	(Likely) benign	1 lab	34a2d96e7f
2:179399863 TTN G>A	2	179399863	179399863	G	A	TTN	c.101479C>T	NM_001267550.2	NP_001254479.2:p.(Arg33827Cys)	NC_000002.11:g.179399863G>A	VUS	1 lab	34a49df3ed
X:37586940 XK G>A	X	37586940	37586940	G	A	XK	c.560G>A	NM_021083.4	NP_066569.1:p.(Cys187Tyr)	NC_000023.10:g.37586940G>A	VUS	1 lab	34a6af9fe5
20:42788845 JPH2 G>A	20	42788845	42788845	G	A	JPH2	c.582C>T	NM_020433.5	NP_065166.2:p.(Ala194=)	NC_000020.10:g.42788845G>A	(Likely) benign	1 lab	34a75a79dc
12:21375306 SLCO1B1 GAA>G	12	21375306	21375332	GAA	G	SLCO1B1	c.1747+33_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375331_21375332del	(Likely) benign	1 lab	34a7e57ce7
17:41256896 BRCA1 G>A	17	41256896	41256896	G	A	BRCA1	c.290C>T	NM_007294.4	NP_009225.1:p.(Thr97Ile)	NC_000017.10:g.41256896G>A	VUS	1 lab	355893b2df
7:69659881 AUTS2 Ref too long to show for this DEL>T	7	69659881	69780256	Ref too long to show for this DEL	T	AUTS2	c.660+60325_661-120482del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69659882_69780256del	VUS	1 lab	34a9e69e96
20:31764008 MISSING Ref too long to show for this DEL>A	20	31764008	31830334	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.31764009_31830334del	VUS	1 lab	34abc21d15
18:47117068 LIPG G>A	18	47117068	47117068	G	A	LIPG	c.*176G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47117068G>A	(Likely) benign	1 lab	34ae5f8cd5
6:56346985 DST TCA>T	6	56346985	56347000	TCA	T	DST	c.15046-11_15046-10del	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56346999_56347000del	(Likely) benign	1 lab	34af38f8c7
15:73617723 HCN4 G>T	15	73617723	73617723	G	T	HCN4	c.1653C>A	NM_005477.3	NP_005468.1:p.(Ile551=)	NC_000015.9:g.73617723G>T	(Likely) benign	1 lab	34b304b4a6
14:76430038 TGFB3 A>T	14	76430038	76430038	A	T	TGFB3	c.755-208T>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76430038A>T	(Likely) benign	1 lab	34b37f5d94
3:53700349 CACNA1D G>C	3	53700349	53700349	G	C	CACNA1D	c.920-17G>C	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53700349G>C	(Likely) benign	1 lab	34b79266fe
9:107594432 ABCA1 C>A	9	107594432	107594432	C	A	ABCA1	c.1510-324G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594432C>A	(Likely) benign	1 lab	34b8d64624
15:22770420 MISSING A>Alt too long to show for this DUP	15	22770420	23288351	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770422_23288351dup	(Likely) pathogenic	1 lab	35a16daba6
12:2716243 CACNA1C T>C	12	2716243	2716243	T	C	CACNA1C	c.3303T>C	NM_001167623.2	NP_001161095.1:p.(Val1101=)	NC_000012.11:g.2716243T>C	(Likely) benign	1 lab	34beeaf11c
19:45412402 APOE C>G	19	45412402	45412402	C	G	APOE	c.927C>G	NM_001302688.2	NP_001289617.1:p.(Phe309Leu)	NC_000019.9:g.45412402C>G	VUS	1 lab	34bf23f931
5:127654069 FBN2 T>G	5	127654069	127654069	T	G	FBN2	c.4595-106A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654069T>G	(Likely) benign	1 lab	34c00ff237
2:130744946 MISSING A>Alt too long to show for this DUP	2	130744946	130860951	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.130744948_130860951dup	VUS	1 lab	34c1b64b40
2:179447740 TTN G>T	2	179447740	179447740	G	T	TTN	c.65790C>A	NM_001267550.2	NP_001254479.2:p.(Asp21930Glu)	NC_000002.11:g.179447740G>T	VUS	1 lab	34c2432cf4
12:2694632 CACNA1C G>T	12	2694632	2694632	G	T	CACNA1C	c.2430G>T	NM_199460.4	NP_955630.3:p.(Thr810=)	NC_000012.11:g.2694632G>T	(Likely) benign	1 lab	34c29dd2e5
13:75625390 MISSING T>Alt too long to show for this DUP	13	75625390	75880561	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.75625392_75880561dup	VUS	1 lab	34c4f81358
15:31200290 FAN1 A>AT	15	31200290	31200294	A	AT	FAN1	c.1235-27dup	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31200294dup	(Likely) benign	1 lab	34c6b0d052
18:47112851 LIPG G>GCCAT	18	47112851	47112852	G	GCCAT	LIPG	c.1377-265_1377-264insCCAT	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47112851_47112852insCCAT	(Likely) benign	1 lab	34c89ef89a
16:15851398 MYH11 C>A	16	15851398	15851398	C	A	MYH11	c.1596+286G>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15851398C>A	(Likely) benign	1 lab	34c8ac8c8c
1:61869813 NFIA G>C	1	61869813	61869813	G	C	NFIA	c.1113G>C	NM_001134673.4	NP_001128145.1:p.(Pro371=)	NC_000001.10:g.61869813G>C	(Likely) benign	1 lab	34c96fb5d0
1:197297964 CRB1 C>T	1	197297964	197297964	C	T	CRB1	c.276C>T	NM_001257965.2	NP_001244894.1:p.(Ala92=)	NC_000001.10:g.197297964C>T	(Likely) benign	1 lab	34cb1a9195
Y:59051106 MISSING A>Alt too long to show for this DUP	Y	59051106	59335913	A	Alt too long to show for this DUP	MISSING				NC_000024.9:g.59051107_59335913dup	(Likely) pathogenic	1 lab	34cb956239
18:29121241 DSG2 T>C	18	29121241	29121241	T	C	DSG2	c.1965T>C	NM_001943.5	NP_001934.2:p.(His655=)	NC_000018.9:g.29121241T>C	(Likely) benign	1 lab	34cbbc7a7b
15:48717673 FBN1 T>C	15	48717673	48717673	T	C	FBN1	c.7346A>G	NM_000138.5	NP_000129.3:p.(Asn2449Ser)	NC_000015.9:g.48717673T>C	(Likely) benign	1 lab	34cdafe7d5
2:179500234 TTN T>C	2	179500234	179500234	T	C	TTN	c.41817A>G	NM_001267550.2	NP_001254479.2:p.(Pro13939=)	NC_000002.11:g.179500234T>C	(Likely) benign	1 lab	34cfae3b8e
19:8993048 MUC16 C>G	19	8993048	8993048	C	G	MUC16	c.41717-6G>C	NM_024690.2	NP_078966.2:p.?	NC_000019.9:g.8993048C>G	(Likely) benign	1 lab	34cfb563c5
9:27548536 C9orf72 G>A	9	27548536	27548536	G	A	C9orf72	c.1259+19C>T	NM_001256054.3	NP_001242983.1:p.?	NC_000009.11:g.27548536G>A	(Likely) benign	1 lab	34d21239e4
8:27313021 MISSING A>Alt too long to show for this DUP	8	27313021	27408499	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.27313026_27408499dup	VUS	1 lab	34d7dd46b5
2:55342988 MISSING Ref too long to show for this DEL>C	2	55342988	55445079	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.55342989_55445079del	VUS	1 lab	34dc4dfc34
10:112572403 RBM20 T>C	10	112572403	112572403	T	C	RBM20	c.2248T>C	NM_001134363.3	NP_001127835.2:p.(Ser750Pro)	NC_000010.10:g.112572403T>C	VUS	1 lab	34dd5e268d
6:32035679 TNXB T>C	6	32035679	32035679	T	C	TNXB	c.6303A>G	NM_019105.8	NP_061978.6:p.(Leu2101=)	NC_000006.11:g.32035679T>C	(Likely) benign	1 lab	34de2e0162
7:128492712 FLNC C>T	7	128492712	128492712	C	T	FLNC	c.5910C>T	NM_001458.5	NP_001449.3:p.(Thr1970=)	NC_000007.13:g.128492712C>T	(Likely) benign	1 lab	34dfa747e8
2:179477070 TTN C>A	2	179477070	179477070	C	A	TTN	c.50182G>T	NM_001267550.2	NP_001254479.2:p.(Glu16728Ter)	NC_000002.11:g.179477070C>A	(Likely) pathogenic	1 lab	34e1b726c3
2:44102468 ABCG8 A>G	2	44102468	44102468	A	G	ABCG8	c.1672A>G	NM_022437.3	NP_071882.1:p.(Met558Val)	NC_000002.11:g.44102468A>G	VUS	1 lab	34e30c7398
18:19429274 MIB1 T>C	18	19429274	19429274	T	C	MIB1	c.2511T>C	NM_020774.4	NP_065825.1:p.(Ile837=)	NC_000018.9:g.19429274T>C	(Likely) benign	1 lab	34e39e8a7b
22:29091139 CHEK2 C>T	22	29091139	29091139	C	T	CHEK2	c.1351G>A	NM_007194.4	NP_009125.1:p.(Val451Ile)	NC_000022.10:g.29091139C>T	VUS	1 lab	34e632e9ed
15:80884025 ARNT2 G>A	15	80884025	80884025	G	A	ARNT2	c.2035G>A	NM_014862.4	NP_055677.3:p.(Gly679Ser)	NC_000015.9:g.80884025G>A	(Likely) benign	1 lab	34e7d3139d
12:122252188 SETD1B G>A	12	122252188	122252188	G	A	SETD1B	c.2067G>A	NM_001353345.2	NP_001340274.1:p.(Pro689=)	NC_000012.11:g.122252188G>A	(Likely) benign	1 lab	34e8b8406b
17:6377885 PITPNM3 C>T	17	6377885	6377885	C	T	PITPNM3	c.1125G>A	NM_031220.4	NP_112497.2:p.(Pro375=)	NC_000017.10:g.6377885C>T	(Likely) benign	1 lab	34eafe0b34
9:107579472 ABCA1 A>C	9	107579472	107579472	A	C	ABCA1	c.3535+141T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579472A>C	(Likely) benign	1 lab	34eb25ff40
10:112557291 RBM20 G>A	10	112557291	112557291	G	A	RBM20	c.1553G>A	NM_001134363.3	NP_001127835.2:p.(Arg518His)	NC_000010.10:g.112557291G>A	VUS	1 lab	34f287b5f0
2:241708610 KIF1A G>A	2	241708610	241708610	G	A	KIF1A	c.1437C>T	NM_001244008.2	NP_001230937.1:p.(Ala479=)	NC_000002.11:g.241708610G>A	(Likely) benign	1 lab	34f318dce1
6:112496560 LAMA4 T>C	6	112496560	112496560	T	C	LAMA4	c.1291A>G	NM_002290.5	NP_002281.3:p.(Thr431Ala)	NC_000006.11:g.112496560T>C	(Likely) benign	1 lab	3500241257
2:21258593 APOB T>C	2	21258593	21258593	T	C	APOB	c.694-13A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21258593T>C	(Likely) pathogenic	1 lab	35028d31c5
16:1020732 LMF1 G>A	16	1020732	1020732	G	A	LMF1	c.-362+10413C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020732G>A	(Likely) benign	1 lab	35daa79dec
8:22262418 SLC39A14 A>G	8	22262418	22262418	A	G	SLC39A14	c.195A>G	NM_001351660.2	NP_001338589.1:p.(Leu65=)	NC_000008.10:g.22262418A>G	(Likely) benign	1 lab	3504feafc0
15:66996050 SMAD6 C>CCGGCGGG	15	66996050	66996067	C	CCGGCGGG	SMAD6	c.465_471dup	NM_005585.5	NP_005576.3:p.(Ser158ArgfsTer147)	NC_000015.9:g.66996061_66996067dup	(Likely) pathogenic	1 lab	3506ca99a4
1:87380781 HS2ST1 C>A	1	87380781	87380781	C	A	HS2ST1	c.62C>A	NM_012262.4	NP_036394.1:p.(Ala21Glu)	NC_000001.10:g.87380781C>A	VUS	1 lab	350990a625
11:47356951 MYBPC3 T>C	11	47356951	47356951	T	C	MYBPC3	c.2738-191A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356951T>C	(Likely) benign	1 lab	350d98b5c7
6:157522171 ARID1B T>G	6	157522171	157522171	T	G	ARID1B	c.4692T>G	NM_001371656.1	NP_001358585.1:p.(Pro1564=)	NC_000006.11:g.157522171T>G	(Likely) benign	1 lab	350fe6c751
22:29877141 NEFH A>G	22	29877141	29877141	A	G	NEFH	c.883+7A>G	NM_021076.4	NP_066554.2:p.?	NC_000022.10:g.29877141A>G	(Likely) benign	1 lab	3510c819df
2:21234124 APOB G>A	2	21234124	21234124	G	A	APOB	c.5616C>T	NM_000384.3	NP_000375.3:p.(Ile1872=)	NC_000002.11:g.21234124G>A	(Likely) benign	1 lab	35110d88a2
16:15815167 MYH11 G>A	16	15815167	15815167	G	A	MYH11	c.4578+112C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15815167G>A	(Likely) benign	1 lab	35122b08a3
12:32993749 PKP2 C>T	12	32993749	32993749	C	T	PKP2	c.1688+213G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32993749C>T	(Likely) benign	1 lab	3512ef22d8
14:49309311 MISSING Ref too long to show for this DEL>T	14	49309311	50039405	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.49309312_50039405del	VUS	1 lab	3517cdadcb
12:112924460 PTPN11 C>T	12	112924460	112924460	C	T	PTPN11	c.1379+27C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112924460C>T	(Likely) benign	1 lab	35188b54af
10:77009872 MISSING A>Alt too long to show for this DUP	10	77009872	77095123	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.77009873_77095123dup	VUS	1 lab	351b965df0
9:107580450 ABCA1 TA>T	9	107580450	107580464	TA	T	ABCA1	c.3462+493del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580464del	(Likely) benign	1 lab	351bbfe0f0
2:1670170 PXDN G>A	2	1670170	1670170	G	A	PXDN	c.1107C>T	NM_012293.3	NP_036425.1:p.(Pro369=)	NC_000002.11:g.1670170G>A	(Likely) benign	1 lab	3520de01bc
13:32913920 BRCA2 G>A	13	32913920	32913920	G	A	BRCA2	c.5428G>A	NM_000059.4	NP_000050.3:p.(Val1810Ile)	NC_000013.10:g.32913920G>A	(Likely) benign	1 lab	3522ab6b3e
9:107587972 ABCA1 A>G	9	107587972	107587972	A	G	ABCA1	c.2534T>C	NM_005502.4	NP_005493.2:p.(Val845Ala)	NC_000009.11:g.107587972A>G	VUS	1 lab	3524a9a037
1:6506013 ESPN C>A	1	6506013	6506013	C	A	ESPN	c.1464+18C>A	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6506013C>A	(Likely) benign	1 lab	35251cc5c8
4:87182536 MAPK10 Ref too long to show for this DEL>T	4	87182536	87214541	Ref too long to show for this DEL	T	MAPK10	c.-7+61143_-6-66977del	NM_138982.4	NP_620448.1:p.?	NC_000004.11:g.87182538_87214541del	(Likely) pathogenic	1 lab	352699a0f4
22:46805772 CELSR1 C>T	22	46805772	46805772	C	T	CELSR1	c.4939G>A	NM_001378328.1	NP_001365257.1:p.(Ala1647Thr)	NC_000022.10:g.46805772C>T	(Likely) benign	1 lab	35279844d9
16:1020904 LMF1 T>C	16	1020904	1020904	T	C	LMF1	c.77A>G	NM_022773.4	NP_073610.2:p.(Glu26Gly)	NC_000016.9:g.1020904T>C	VUS	1 lab	3527a70865
2:179433580 TTN-AS1 T>C	2	179433580	179433580	T	C	TTN-AS1	n.2044-13719T>C	NR_038272.1		NC_000002.11:g.179433580T>C	(Likely) benign	1 lab	35283c2f62
5:149357603 SLC26A2 TC>T	5	149357603	149357606	TC	T	SLC26A2	c.391del	NM_000112.4	NP_000103.2:p.(Leu131CysfsTer41)	NC_000005.9:g.149357606del	(Likely) pathogenic	1 lab	352a005461
12:111356953 MYL2 GT>G	12	111356953	111356955	GT	G	MYL2	c.47del	NM_000432.4	NP_000423.2:p.(Asn16ThrfsTer34)	NC_000012.11:g.111356955del	VUS	1 lab	352a2bede7
2:179408995 TTN G>A	2	179408995	179408995	G	A	TTN	c.95961C>T	NM_001267550.2	NP_001254479.2:p.(Ala31987=)	NC_000002.11:g.179408995G>A	(Likely) benign	1 lab	352dbd6f2b
X:85128156 CHM C>T	X	85128156	85128156	C	T	CHM	c.1227G>A	NM_001362517.1	NP_001349446.1:p.(Ser409=)	NC_000023.10:g.85128156C>T	(Likely) benign	1 lab	352e8a0c53
17:36482454 GPR179 G>C	17	36482454	36482454	G	C	GPR179	c.6998C>G	NM_001004334.4	NP_001004334.3:p.(Ala2333Gly)	NC_000017.10:g.36482454G>C	VUS	1 lab	352f7aa27f
6:66204898 EYS C>A	6	66204898	66204898	C	A	EYS	c.406G>T	NM_001292009.2	NP_001278938.1:p.(Val136Phe)	NC_000006.11:g.66204898C>A	VUS	1 lab	352fe88354
7:81765996 CACNA2D1 C>CAA	7	81765996	81766006	C	CAA	CACNA2D1	c.355-6_355-5dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81766005_81766006dup	(Likely) benign	1 lab	353159edd3
22:50659598 TUBGCP6 C>T	22	50659598	50659598	C	T	TUBGCP6	c.3190G>A	NM_020461.4	NP_065194.3:p.(Gly1064Arg)	NC_000022.10:g.50659598C>T	(Likely) benign	1 lab	3534c5ef44
16:57003598 CETP GT>G	16	57003598	57003599	GT	G	CETP	c.439+6del	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003599del	VUS	1 lab	3535ab1f41
X:23758207 MISSING Ref too long to show for this DEL>T	X	23758207	23794717	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.23758208_23794717del	VUS	1 lab	3535e64a9a
2:179428860 TTN AGTT>A	2	179428860	179428866	AGTT	A	TTN	c.81996_81998del	NM_001267550.2	NP_001254479.2:p.(Thr27333del)	NC_000002.11:g.179428864_179428866del	VUS	1 lab	35412405d3
6:163831453 MISSING Ref too long to show for this DEL>G	6	163831453	164488184	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.163831454_164488184del	(Likely) pathogenic	1 lab	35448f294d
15:48719797 FBN1 GA>G	15	48719797	48719798	GA	G	FBN1	c.7170del	NM_000138.5	NP_000129.3:p.(His2392MetfsTer6)	NC_000015.9:g.48719798del	(Likely) pathogenic	1 lab	354844f2d4
12:125291928 SCARB1 C>T	12	125291928	125291928	C	T	SCARB1	c.1009+379G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125291928C>T	(Likely) benign	1 lab	354c9f4516
11:116708076 APOA1 C>T	11	116708076	116708076	C	T	APOA1	c.28G>A	NM_001318017.2	NP_001304946.1:p.(Val10Met)	NC_000011.9:g.116708076C>T	VUS	1 lab	354f1f93bd
6:56819196 DST G>T	6	56819196	56819196	G	T	DST	c.181+9C>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56819196G>T	(Likely) benign	1 lab	3551fcb93e
2:232879671 DIS3L2 C>A	2	232879671	232879671	C	A	DIS3L2	c.34C>A	NM_152383.5	NP_689596.4:p.(Pro12Thr)	NC_000002.11:g.232879671C>A	(Likely) benign	1 lab	35548741d7
6:35648369 MISSING A>Alt too long to show for this DUP	6	35648369	35790836	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.35648370_35790836dup	VUS	1 lab	3556b26794
19:11215906 LDLR G>T	19	11215906	11215906	G	T	LDLR	c.324G>T	NM_000527.5	NP_000518.1:p.(Thr108=)	NC_000019.9:g.11215906G>T	(Likely) benign	1 lab	35574cc604
11:47371768 MYBPC3 A>G	11	47371768	47371768	A	G	MYBPC3	c.407-105T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371768A>G	(Likely) benign	1 lab	355920584e
7:73467650 ELN C>CTGTGTGTGTG	7	73467650	73467689	C	CTGTGTGTGTG	ELN	c.1096+41_1096+50dup	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467680_73467689dup	(Likely) benign	1 lab	355bdb47fb
22:29091787 CHEK2 G>T	22	29091787	29091787	G	T	CHEK2	c.1170C>A	NM_007194.4	NP_009125.1:p.(Tyr390Ter)	NC_000022.10:g.29091787G>T	(Likely) pathogenic	1 lab	355c69bf40
14:45650837 FANCM T>G	14	45650837	45650837	T	G	FANCM	c.4318-3T>G	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45650837T>G	VUS	1 lab	3560846a19
19:19127426 SUGP2 Ref too long to show for this DEL>G	19	19127426	19140918	Ref too long to show for this DEL	G	SUGP2	c.121+842_1850+2491del	NM_001017392.5	NP_001017392.2:p.?	NC_000019.9:g.19127427_19140918del	VUS	1 lab	35666d58fd
7:81714151 CACNA2D1 C>T	7	81714151	81714151	C	T	CACNA2D1	c.592G>A	NM_001366867.1	NP_001353796.1:p.(Glu198Lys)	NC_000007.13:g.81714151C>T	(Likely) benign	1 lab	3567324e57
20:51854392 TSHZ2 Ref too long to show for this DEL>T	20	51854392	51876813	Ref too long to show for this DEL	T	TSHZ2	c.41-15644_*8+3703del	NM_173485.6	NP_775756.3:p.?	NC_000020.10:g.51854394_51876813del	VUS	1 lab	356835eb36
1:155630240 YY1AP1 G>A	1	155630240	155630240	G	A	YY1AP1	c.1875C>T	NM_001198903.1	NP_001185832.1:p.(Pro625=)	NC_000001.10:g.155630240G>A	(Likely) benign	1 lab	356ab574ed
11:76834830 CAPN5 C>T	11	76834830	76834830	C	T	CAPN5	c.1837C>T	NM_004055.5	NP_004046.2:p.(Arg613Trp)	NC_000011.9:g.76834830C>T	(Likely) benign	1 lab	356d4b12fd
1:237813206 RYR2 G>A	1	237813206	237813206	G	A	RYR2	c.7542G>A	NM_001035.3	NP_001026.2:p.(Leu2514=)	NC_000001.10:g.237813206G>A	(Likely) benign	1 lab	356d8590e2
19:11218109 LDLR G>A	19	11218109	11218109	G	A	LDLR	c.859G>A	NM_000527.5	NP_000518.1:p.(Gly287Ser)	NC_000019.9:g.11218109G>A	(Likely) pathogenic	1 lab	356f18ce1a
16:89883000 FANCA G>C	16	89883000	89883000	G	C	FANCA	c.24C>G	NM_000135.4	NP_000126.2:p.(Asn8Lys)	NC_000016.9:g.89883000G>C	(Likely) benign	1 lab	356f6ea8dd
10:100202981 HPS1 A>AC	10	100202981	100202983	A	AC	HPS1	c.16dup	NM_001322477.2	NP_001309406.1:p.(Val6GlyfsTer4)	NC_000010.10:g.100202983dup	(Likely) pathogenic	1 lab	357600908e
1:161276609 MPZ C>A	1	161276609	161276609	C	A	MPZ	c.337G>T	NM_000530.8	NP_000521.2:p.(Val113Phe)	NC_000001.10:g.161276609C>A	(Likely) pathogenic	1 lab	35762e6d99
12:21327520 SLCO1B1 T>C	12	21327520	21327520	T	C	SLCO1B1	c.236T>C	NM_006446.5	NP_006437.3:p.(Leu79Pro)	NC_000012.11:g.21327520T>C	(Likely) benign	1 lab	357c77c075
1:11073507 TARDBP TCA>T	1	11073507	11073511	TCA	T	TARDBP	c.-12-263_-12-262del	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11073510_11073511del	(Likely) benign	1 lab	357fc4c7d5
16:1592087 IFT140 T>C	16	1592087	1592087	T	C	IFT140	c.2400-15290A>G	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1592087T>C	(Likely) benign	1 lab	35802df933
1:10431330 KIF1B C>T	1	10431330	10431330	C	T	KIF1B	c.4946+10C>T	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10431330C>T	(Likely) benign	1 lab	358432ae7d
5:127636522 FBN2 G>A	5	127636522	127636522	G	A	FBN2	c.6153C>T	NM_001999.4	NP_001990.2:p.(Ser2051=)	NC_000005.9:g.127636522G>A	VUS	1 lab	3587ed0ba3
15:85400898 ALPK3 G>A	15	85400898	85400898	G	A	ALPK3	c.2929G>A	NM_020778.5	NP_065829.4:p.(Gly977Arg)	NC_000015.9:g.85400898G>A	VUS	1 lab	358857a094
22:16449209 OR11H1 C>A	22	16449209	16449209	C	A	OR11H1	c.596G>T	NM_001005239.1	NP_001005239.1:p.(Arg199Leu)	NC_000022.10:g.16449209C>A	(Likely) benign	1 lab	35891a61b8
12:58220823 CTDSP2 C>T	12	58220823	58220823	C	T	CTDSP2	c.310G>A	NM_005730.4	NP_005721.3:p.(Val104Met)	NC_000012.11:g.58220823C>T	(Likely) benign	1 lab	358a988824
1:202572105 SYT2 GCC>G	1	202572105	202572112	GCC	G	SYT2	c.465+20_465+21del	NM_001136504.1	NP_001129976.1:p.?	NC_000001.10:g.202572111_202572112del	(Likely) benign	1 lab	358cf5066d
22:29876332 NEFH G>A	22	29876332	29876332	G	A	NEFH	c.81G>A	NM_021076.4	NP_066554.2:p.(Ala27=)	NC_000022.10:g.29876332G>A	(Likely) benign	1 lab	358f840b88
7:116398608 MET C>T	7	116398608	116398608	C	T	MET	c.2198C>T	NM_001127500.3	NP_001120972.1:p.(Thr733Ile)	NC_000007.13:g.116398608C>T	VUS	1 lab	35923eda5a
7:91631840 AKAP9 G>A	7	91631840	91631840	G	A	AKAP9	c.2609G>A	NM_005751.5	NP_005742.4:p.(Cys870Tyr)	NC_000007.13:g.91631840G>A	VUS	1 lab	359805d0e6
6:116756801 DSE A>G	6	116756801	116756801	A	G	DSE	c.1170A>G	NM_013352.4	NP_037484.1:p.(Thr390=)	NC_000006.11:g.116756801A>G	(Likely) benign	1 lab	3598d27a4c
18:65408839 MISSING Ref too long to show for this DEL>G	18	65408839	67216512	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.65408840_67216512del	(Likely) pathogenic	1 lab	359991541b
11:85031348 DLG2 Ref too long to show for this DEL>T	11	85031348	85066654	Ref too long to show for this DEL	T	DLG2	c.41-70243_41-34940del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.85031351_85066654del	VUS	1 lab	359bf8ac14
3:49698839 BSN C>T	3	49698839	49698839	C	T	BSN	c.9561C>T	NM_003458.4	NP_003449.2:p.(Ser3187=)	NC_000003.11:g.49698839C>T	(Likely) benign	1 lab	359d6a9dcf
20:36305235 MISSING C>Alt too long to show for this DUP	20	36305235	36538658	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.36305239_36538658dup	VUS	1 lab	386a863efc
19:10077419 COL5A3 C>G	19	10077419	10077419	C	G	COL5A3	c.4462G>C	NM_015719.4	NP_056534.2:p.(Ala1488Pro)	NC_000019.9:g.10077419C>G	(Likely) benign	1 lab	35a2555cce
15:28518130 HERC2 G>C	15	28518130	28518130	G	C	HERC2	c.821C>G	NM_004667.6	NP_004658.3:p.(Ala274Gly)	NC_000015.9:g.28518130G>C	(Likely) benign	1 lab	35a5ea93ce
20:34051467 CEP250 C>T	20	34051467	34051467	C	T	CEP250	c.243+11C>T	NM_007186.6	NP_009117.2:p.?	NC_000020.10:g.34051467C>T	(Likely) benign	1 lab	35a6cc842f
12:124399386 DNAH10 C>G	12	124399386	124399386	C	G	DNAH10	c.10221-13C>G	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124399386C>G	(Likely) benign	1 lab	35a783a9c9
16:918961 LMF1 C>T	16	918961	918961	C	T	LMF1	c.1432G>A	NM_001352020.1	NP_001338949.1:p.(Gly478Arg)	NC_000016.9:g.918961C>T	(Likely) benign	1 lab	35a80b5c03
11:47362809 MYBPC3 G>C	11	47362809	47362809	G	C	MYBPC3	c.1791-14C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362809G>C	(Likely) benign	1 lab	35ab2b0dce
X:118821135 SEPTIN6 A>Alt too long to show for this DUP	X	118821135	118830432	A	Alt too long to show for this DUP	SEPTIN6				NC_000023.10:g.118821137_118830432dup	VUS	1 lab	35ad9140a1
6:49427244 MMUT A>T	6	49427244	49427244	A	T	MMUT	c.-39-26T>A	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49427244A>T	(Likely) benign	1 lab	35aec68722
12:21329761 SLCO1B1 G>A	12	21329761	21329761	G	A	SLCO1B1	c.411G>A	NM_006446.5	NP_006437.3:p.(Ser137=)	NC_000012.11:g.21329761G>A	(Likely) benign	1 lab	35af4848b0
4:140291409 NAA15 A>T	4	140291409	140291409	A	T	NAA15	c.1798A>T	NM_057175.5	NP_476516.1:p.(Arg600Ter)	NC_000004.11:g.140291409A>T	(Likely) pathogenic	1 lab	35b20489f7
1:214576241 PTPN14 T>C	1	214576241	214576241	T	C	PTPN14	c.566A>G	NM_005401.5	NP_005392.2:p.(Glu189Gly)	NC_000001.10:g.214576241T>C	(Likely) benign	1 lab	35b2157a70
7:128482933 FLNC C>T	7	128482933	128482933	C	T	FLNC	c.2475C>T	NM_001458.5	NP_001449.3:p.(Asp825=)	NC_000007.13:g.128482933C>T	(Likely) benign	1 lab	35b3496fff
11:66332132 CTSF A>G	11	66332132	66332132	A	G	CTSF	c.1231-13T>C	NM_003793.4	NP_003784.2:p.?	NC_000011.9:g.66332132A>G	(Likely) benign	1 lab	35b5ee5691
17:6360885 PITPNM3 TCCCCGCCTCCAG>T	17	6360885	6360908	TCCCCGCCTCCAG	T	PITPNM3	c.2619+17_2619+28del	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6360897_6360908del	(Likely) benign	1 lab	35b8bb6b83
12:974326 WNK1 G>C	12	974326	974326	G	C	WNK1	c.2190G>C	NM_213655.5	NP_998820.3:p.(Leu730Phe)	NC_000012.11:g.974326G>C	(Likely) benign	1 lab	35bb9c3621
11:76830218 CAPN5 C>T	11	76830218	76830218	C	T	CAPN5	c.1290+20C>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76830218C>T	(Likely) benign	1 lab	35be0cb3e0
9:100459559 XPA C>T	9	100459559	100459559	C	T	XPA	c.16G>A	NM_000380.4	NP_000371.1:p.(Gly6Arg)	NC_000009.11:g.100459559C>T	(Likely) benign	1 lab	35bf1a9d07
X:23353296 PTCHD1 C>T	X	23353296	23353296	C	T	PTCHD1	c.304C>T	NM_173495.3	NP_775766.2:p.(Gln102Ter)	NC_000023.10:g.23353296C>T	(Likely) pathogenic	1 lab	35bf1fdb80
1:45808659 TOE1 C>T	1	45808659	45808659	C	T	TOE1	c.897C>T	NM_025077.4	NP_079353.3:p.(Ile299=)	NC_000001.10:g.45808659C>T	(Likely) benign	1 lab	35c2df7d0f
10:121429550 BAG3 G>A	10	121429550	121429550	G	A	BAG3	c.368G>A	NM_004281.4	NP_004272.2:p.(Arg123Gln)	NC_000010.10:g.121429550G>A	VUS	1 lab	35c5f49a23
1:40766923 COL9A2 G>A	1	40766923	40766923	G	A	COL9A2	c.2001C>T	NM_001852.4	NP_001843.1:p.(Ala667=)	NC_000001.10:g.40766923G>A	(Likely) benign	1 lab	35c9edfa55
1:39719966 MACF1 G>T	1	39719966	39719966	G	T	MACF1	c.373-4G>T	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39719966G>T	(Likely) benign	1 lab	35ce703e98
1:55518752 PCSK9 C>T	1	55518752	55518752	C	T	PCSK9	c.799+288C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518752C>T	(Likely) benign	1 lab	35ce89cf8e
10:121432040 BAG3 C>T	10	121432040	121432040	C	T	BAG3	c.781C>T	NM_004281.4	NP_004272.2:p.(Arg261Trp)	NC_000010.10:g.121432040C>T	VUS	1 lab	35cefb2d50
9:6645350 GLDC C>T	9	6645350	6645350	C	T	GLDC	c.150G>A	NM_000170.3	NP_000161.2:p.(Ser50=)	NC_000009.11:g.6645350C>T	(Likely) benign	1 lab	35cf3fef4c
8:133945848 TG C>T	8	133945848	133945848	C	T	TG	c.4859C>T	NM_003235.5	NP_003226.4:p.(Thr1620Met)	NC_000008.10:g.133945848C>T	(Likely) benign	1 lab	35d3f426d5
19:50364799 PNKP AGGGGTCAGGGGAGGAGG>A	19	50364799	50364827	AGGGGTCAGGGGAGGAGG	A	PNKP	c.1386+49_1387-33del	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50364811_50364827del	(Likely) pathogenic	1 lab	35d517c750
2:61009823 PAPOLG C>T	2	61009823	61009823	C	T	PAPOLG	c.1030C>T	NM_022894.4	NP_075045.2:p.(Leu344Phe)	NC_000002.11:g.61009823C>T	(Likely) benign	1 lab	35d79d3758
2:219674469 CYP27A1 T>C	2	219674469	219674469	T	C	CYP27A1	c.425T>C	NM_000784.4	NP_000775.1:p.(Leu142Pro)	NC_000002.11:g.219674469T>C	(Likely) pathogenic	1 lab	35d7cfa1b1
7:128486321 FLNC C>T	7	128486321	128486321	C	T	FLNC	c.3965-34C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486321C>T	(Likely) benign	1 lab	35d9032191
12:125299830 SCARB1 C>T	12	125299830	125299830	C	T	SCARB1	c.285-170G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125299830C>T	(Likely) benign	1 lab	35dafd3ebe
19:33991852 PEPD C>T	19	33991852	33991852	C	T	PEPD	c.385G>A	NM_000285.4	NP_000276.2:p.(Val129Ile)	NC_000019.9:g.33991852C>T	(Likely) benign	1 lab	35e2253210
11:67925722 KMT5B CTTCTT>C	11	67925722	67925729	CTTCTT	C	KMT5B	c.1570_1574del	NM_001300907.1	NP_001287836.1:p.(Lys524GlufsTer7)	NC_000011.9:g.67925725_67925729del	(Likely) pathogenic	1 lab	35e4fc4e43
20:3893159 PANK2 T>C	20	3893159	3893159	T	C	PANK2	c.1290T>C	NM_153638.4	NP_705902.2:p.(Thr430=)	NC_000020.10:g.3893159T>C	(Likely) benign	1 lab	35e58beaf5
17:16738144 MISSING Ref too long to show for this DEL>C	17	16738144	20430791	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.16738146_20430791del	(Likely) pathogenic	1 lab	35e5fed2c5
20:56140132 PCK1 A>G	20	56140132	56140132	A	G	PCK1	c.1355A>G	NM_002591.4	NP_002582.3:p.(His452Arg)	NC_000020.10:g.56140132A>G	VUS	1 lab	35e84ca9c5
20:42815308 JPH2 G>A	20	42815308	42815308	G	A	JPH2	c.38C>T	NM_020433.5	NP_065166.2:p.(Ala13Val)	NC_000020.10:g.42815308G>A	VUS	1 lab	35e84ed4c5
15:48781835 FBN1 A>C	15	48781835	48781835	A	C	FBN1	c.3082+213T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48781835A>C	(Likely) benign	1 lab	35ea5ad836
6:112499393 LAMA4 T>C	6	112499393	112499393	T	C	LAMA4	c.1119A>G	NM_001105206.3	NP_001098676.2:p.(Glu373=)	NC_000006.11:g.112499393T>C	(Likely) benign	1 lab	35edf022d4
15:58840513 LIPC T>C	15	58840513	58840513	T	C	LIPC	c.809-16T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840513T>C	(Likely) benign	1 lab	35f2a7c732
1:186094719 HMCN1 T>G	1	186094719	186094719	T	G	HMCN1	c.12500-17T>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186094719T>G	(Likely) benign	1 lab	35f433d7bb
19:11226861 LDLR A>T	19	11226861	11226861	A	T	LDLR	c.1678A>T	NM_000527.5	NP_000518.1:p.(Ile560Phe)	NC_000019.9:g.11226861A>T	(Likely) pathogenic	1 lab	35f4d1ea0b
16:28883283 SH2B1 G>C	16	28883283	28883283	G	C	SH2B1	c.1492G>C	NM_015503.3	NP_056318.2:p.(Asp498His)	NC_000016.9:g.28883283G>C	VUS	1 lab	35f5473e44
12:20903757 SLCO1C1 T>C	12	20903757	20903757	T	C	SLCO1C1	c.1947T>C	NM_001145946.2	NP_001139418.1:p.(His649=)	NC_000012.11:g.20903757T>C	(Likely) benign	1 lab	35f8ae9072
16:89998958 TUBB3 C>T	16	89998958	89998958	C	T	TUBB3	c.-159-21C>T	NM_001197181.2	NP_001184110.1:p.?	NC_000016.9:g.89998958C>T	(Likely) benign	1 lab	35f93236d3
2:8873592 KIDINS220 G>GT	2	8873592	8873593	G	GT	KIDINS220	c.3977dup	NM_001348738.2	NP_001335667.1:p.(His1326GlnfsTer3)	NC_000002.11:g.8873593dup	(Likely) pathogenic	1 lab	35fae6af0f
9:107593430 ABCA1 TAAAA>T	9	107593430	107593451	TAAAA	T	ABCA1	c.1716-52_1716-49del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593448_107593451del	(Likely) benign	1 lab	35ff071434
6:16129652 MYLIP G>A	6	16129652	16129652	G	A	MYLIP	c.87+12G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129652G>A	(Likely) benign	1 lab	36009499eb
7:151329236 PRKAG2 G>A	7	151329236	151329236	G	A	PRKAG2	c.-51C>T	NM_024429.2	NP_077747.1:p.?	NC_000007.13:g.151329236G>A	(Likely) benign	1 lab	361ff0fc46
X:130408555 IGSF1 G>A	X	130408555	130408555	G	A	IGSF1	c.3766+18C>T	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130408555G>A	(Likely) benign	1 lab	3603a84efc
10:69902683 MYPN C>T	10	69902683	69902683	C	T	MYPN	c.903-14C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69902683C>T	(Likely) benign	1 lab	3606e84cb8
Y:16952665 NLGN4Y C>T	Y	16952665	16952665	C	T	NLGN4Y	c.1974C>T	NM_014893.5	NP_055708.3:p.(Pro658=)	NC_000024.9:g.16952665C>T	(Likely) benign	1 lab	360a14127f
12:21331865 SLCO1B1 A>G	12	21331865	21331865	A	G	SLCO1B1	c.638A>G	NM_006446.5	NP_006437.3:p.(Asn213Ser)	NC_000012.11:g.21331865A>G	(Likely) benign	1 lab	360ffcf617
11:118390741 KMT2A T>C	11	118390741	118390741	T	C	KMT2A	c.11391T>C	NM_001197104.2	NP_001184033.1:p.(Asn3797=)	NC_000011.9:g.118390741T>C	(Likely) benign	1 lab	361100642d
16:15810989 MYH11 C>G	16	15810989	15810989	C	G	MYH11	c.5525+8G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15810989C>G	(Likely) benign	1 lab	36128b3aa5
5:127640746 FBN2 G>A	5	127640746	127640746	G	A	FBN2	c.5703C>T	NM_001999.4	NP_001990.2:p.(Asn1901=)	NC_000005.9:g.127640746G>A	(Likely) benign	1 lab	3613ab0ddd
14:23851253 MYH6 T>C	14	23851253	23851253	T	C	MYH6	c.5816A>G	NM_002471.4	NP_002462.2:p.(Glu1939Gly)	NC_000014.8:g.23851253T>C	VUS	1 lab	36173674c8
6:32020722 TNXB G>A	6	32020722	32020722	G	A	TNXB	c.8834C>T	NM_019105.8	NP_061978.6:p.(Pro2945Leu)	NC_000006.11:g.32020722G>A	VUS	1 lab	3618269d46
2:44051158 ABCG5 C>T	2	44051158	44051158	C	T	ABCG5	c.1218G>A	NM_022436.3	NP_071881.1:p.(Arg406=)	NC_000002.11:g.44051158C>T	(Likely) benign	1 lab	361c14b8b0
2:196869312 DNAH7 T>Alt too long to show for this DUP	2	196869312	196889565	T	Alt too long to show for this DUP	DNAH7	c.668-336_990-2731dup	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196869314_196889565dup	VUS	1 lab	36214bf6fa
3:38671834 SCN5A G>A	3	38671834	38671834	G	A	SCN5A	c.360C>T	NM_198056.3	NP_932173.1:p.(Ile120=)	NC_000003.11:g.38671834G>A	(Likely) benign	1 lab	362281a648
21:16318225 MISSING T>Alt too long to show for this DUP	21	16318225	16394796	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.16318226_16394796dup	VUS	1 lab	3622bca833
11:47365433 MYBPC3 A>G	11	47365433	47365433	A	G	MYBPC3	c.1091-258T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365433A>G	(Likely) benign	1 lab	3622d854fc
4:106359208 PPA2 T>A	4	106359208	106359208	T	A	PPA2	c.442-15A>T	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359208T>A	(Likely) benign	1 lab	3623e54675
X:53440303 SMC1A G>A	X	53440303	53440303	G	A	SMC1A	c.428C>T	NM_001281463.1	NP_001268392.1:p.(Ala143Val)	NC_000023.10:g.53440303G>A	VUS	1 lab	362a696182
17:56439920 RNF43 G>C	17	56439920	56439920	G	C	RNF43	c.672C>G	NM_017763.6	NP_060233.3:p.(Pro224=)	NC_000017.10:g.56439920G>C	(Likely) benign	1 lab	362bdccf85
1:145382361 MISSING G>Alt too long to show for this DUP	1	145382361	145833054	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.145382362_145833054dup	(Likely) pathogenic	1 lab	362c9c1fe4
8:144298861 GPIHBP1 C>T	8	144298861	144298861	C	T	GPIHBP1	c.*1469C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298861C>T	(Likely) benign	1 lab	362d875cf1
9:33464083 NOL6 G>T	9	33464083	33464083	G	T	NOL6	c.2856C>A	NM_022917.5	NP_075068.2:p.(Pro952=)	NC_000009.11:g.33464083G>T	(Likely) benign	1 lab	362e09afc1
8:67986533 CSPP1 T>C	8	67986533	67986533	T	C	CSPP1	c.154T>C	NM_024790.6	NP_079066.5:p.(Leu52=)	NC_000008.10:g.67986533T>C	(Likely) benign	1 lab	362f47e5b4
9:107568586 ABCA1 C>T	9	107568586	107568586	C	T	ABCA1	c.4400G>A	NM_005502.4	NP_005493.2:p.(Ser1467Asn)	NC_000009.11:g.107568586C>T	VUS	1 lab	362faf3358
6:123539883 TRDN G>A	6	123539883	123539883	G	A	TRDN	c.2053C>T	NM_006073.4	NP_006064.2:p.(Pro685Ser)	NC_000006.11:g.123539883G>A	VUS	1 lab	3630b813af
5:148408230 SH3TC2 C>T	5	148408230	148408230	C	T	SH3TC2	c.1177+10G>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148408230C>T	(Likely) benign	1 lab	36318a95b3
12:50499464 GPD1 T>C	12	50499464	50499464	T	C	GPD1	c.353T>C	NM_005276.4	NP_005267.2:p.(Leu118Pro)	NC_000012.11:g.50499464T>C	VUS	1 lab	3631d5f351
2:179566987 TTN C>T	2	179566987	179566987	C	T	TTN	c.30434-15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566987C>T	(Likely) benign	1 lab	3632693a90
X:29424184 IL1RAPL1 T>Alt too long to show for this DUP	X	29424184	29583380	T	Alt too long to show for this DUP	IL1RAPL1	c.703+6761_704-103167dup	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29424186_29583380dup	VUS	1 lab	36340c8ff8
1:100680440 DBT C>T	1	100680440	100680440	C	T	DBT	c.872G>A	NM_001918.5	NP_001909.4:p.(Arg291Gln)	NC_000001.10:g.100680440C>T	VUS	1 lab	3637ea5164
15:42695123 CAPN3 C>T	15	42695123	42695123	C	T	CAPN3	c.1668C>T	NM_000070.3	NP_000061.1:p.(Ile556=)	NC_000015.9:g.42695123C>T	(Likely) benign	1 lab	363a539f53
9:4118481 GLIS3 C>T	9	4118481	4118481	C	T	GLIS3	c.997G>A	NM_001042413.2	NP_001035878.1:p.(Gly333Arg)	NC_000009.11:g.4118481C>T	VUS	1 lab	363a681a6c
10:67680340 CTNNA3 T>C	10	67680340	67680340	T	C	CTNNA3	c.2436A>G	NM_013266.4	NP_037398.2:p.(Lys812=)	NC_000010.10:g.67680340T>C	(Likely) benign	1 lab	363db5d451
2:179615653 TTN C>T	2	179615653	179615653	C	T	TTN	c.11474G>A	NM_133379.5	NP_596870.2:p.(Gly3825Asp)	NC_000002.11:g.179615653C>T	VUS	1 lab	363e7a0e0a
4:114275005 ANK2 C>A	4	114275005	114275005	C	A	ANK2	c.5372C>A	NM_001386174.1	NP_001373103.1:p.(Ala1791Asp)	NC_000004.11:g.114275005C>A	VUS	1 lab	364022ed15
15:45408874 DUOXA2 C>G	15	45408874	45408874	C	G	DUOXA2	c.501C>G	NM_207581.4	NP_997464.2:p.(Cys167Trp)	NC_000015.9:g.45408874C>G	VUS	1 lab	364482b6e2
2:21227446 APOB A>G	2	21227446	21227446	A	G	APOB	c.11890T>C	NM_000384.3	NP_000375.3:p.(Tyr3964His)	NC_000002.11:g.21227446A>G	VUS	1 lab	3646c1b990
9:133543556 PRDM12 G>A	9	133543556	133543556	G	A	PRDM12	c.426G>A	NM_021619.3	NP_067632.2:p.(Glu142=)	NC_000009.11:g.133543556G>A	(Likely) benign	1 lab	364706d860
12:5153493 KCNA5 G>A	12	5153493	5153493	G	A	KCNA5	c.180G>A	NM_002234.4	NP_002225.2:p.(Ala60=)	NC_000012.11:g.5153493G>A	(Likely) benign	1 lab	3649606bfb
2:25141485 ADCY3 G>C	2	25141485	25141485	G	C	ADCY3	c.372C>G	NM_001377128.1	NP_001364057.1:p.(Leu124=)	NC_000002.11:g.25141485G>C	(Likely) benign	1 lab	364ac0a2fd
8:76247484 MISSING Ref too long to show for this DEL>C	8	76247484	77228013	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.76247486_77228013del	VUS	1 lab	364e2b0d53
4:106359210 PPA2 A>T	4	106359210	106359210	A	T	PPA2	c.442-17T>A	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359210A>T	(Likely) benign	1 lab	364f378e4c
10:64573323 EGR2 G>A	10	64573323	64573323	G	A	EGR2	c.1075C>T	NM_000399.5	NP_000390.2:p.(Arg359Trp)	NC_000010.10:g.64573323G>A	(Likely) pathogenic	1 lab	364f4652c6
3:178668454 MISSING A>Alt too long to show for this DUP	3	178668454	178840877	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.178668455_178840877dup	VUS	1 lab	3653e26e99
2:21225938 APOB G>A	2	21225938	21225938	G	A	APOB	c.12356C>T	NM_000384.3	NP_000375.3:p.(Ala4119Val)	NC_000002.11:g.21225938G>A	VUS	1 lab	3654b53c90
12:125284748 SCARB1 A>G	12	125284748	125284748	A	G	SCARB1	c.1050T>C	NM_001367981.1	NP_001354910.1:p.(Ala350=)	NC_000012.11:g.125284748A>G	(Likely) benign	1 lab	3654fba859
17:61995827 GH1 C>T	17	61995827	61995827	C	T	GH1	c.50G>A	NM_000515.5	NP_000506.2:p.(Cys17Tyr)	NC_000017.10:g.61995827C>T	VUS	1 lab	3656dc685f
3:75790847 ZNF717 CAGG>C	3	75790847	75790850	CAGG	C	ZNF717	c.95_97del	NM_001128223.3	NP_001121695.1:p.(Thr32_Trp33delinsArg)	NC_000003.11:g.75790848_75790850del	(Likely) benign	1 lab	365804f764
16:88497828 ZNF469 A>G	16	88497828	88497828	A	G	ZNF469	c.3950A>G	NM_001367624.2	NP_001354553.1:p.(Lys1317Arg)	NC_000016.9:g.88497828A>G	(Likely) benign	1 lab	365c57db1a
2:121736033 GLI2 C>T	2	121736033	121736033	C	T	GLI2	c.1392C>T	NM_001371271.1	NP_001358200.1:p.(His464=)	NC_000002.11:g.121736033C>T	(Likely) benign	1 lab	365ecf515f
12:125270990 SCARB1 G>C	12	125270990	125270990	G	C	SCARB1	c.1314C>G	NM_001367981.1	NP_001354910.1:p.(Pro438=)	NC_000012.11:g.125270990G>C	(Likely) benign	1 lab	365f65bb8a
X:20156708 EIF1AX T>C	X	20156708	20156708	T	C	EIF1AX	c.49A>G	NM_001412.4	NP_001403.1:p.(Asn17Asp)	NC_000023.10:g.20156708T>C	VUS	1 lab	36608f4a44
4:100532601 MTTP C>T	4	100532601	100532601	C	T	MTTP	c.1980C>T	NM_000253.4	NP_000244.2:p.(His660=)	NC_000004.11:g.100532601C>T	(Likely) benign	1 lab	3661846f01
17:38245523 THRA C>T	17	38245523	38245523	C	T	THRA	c.1047C>T	NM_199334.5	NP_955366.1:p.(Phe349=)	NC_000017.10:g.38245523C>T	(Likely) benign	1 lab	366219e1ac
18:34267086 FHOD3 A>G	18	34267086	34267086	A	G	FHOD3	c.1971-5A>G	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34267086A>G	(Likely) benign	1 lab	3666e306d5
17:41244519 BRCA1 G>A	17	41244519	41244519	G	A	BRCA1	c.3029C>T	NM_007294.4	NP_009225.1:p.(Pro1010Leu)	NC_000017.10:g.41244519G>A	(Likely) benign	1 lab	3666f94965
6:33298709 MISSING Ref too long to show for this DEL>T	6	33298709	33389795	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.33298711_33389795del	(Likely) pathogenic	1 lab	366759e0f1
5:141033870 ARAP3 T>G	5	141033870	141033870	T	G	ARAP3	c.4282A>C	NM_022481.6	NP_071926.4:p.(Thr1428Pro)	NC_000005.9:g.141033870T>G	(Likely) benign	1 lab	3669b0e470
19:36224764 KMT2B C>T	19	36224764	36224764	C	T	KMT2B	c.7150C>T	NM_014727.3	NP_055542.1:p.(His2384Tyr)	NC_000019.9:g.36224764C>T	VUS	1 lab	366a25de67
16:57015091 CETP G>C	16	57015091	57015091	G	C	CETP	c.1168G>C	NM_000078.3	NP_000069.2:p.(Ala390Pro)	NC_000016.9:g.57015091G>C	(Likely) benign	1 lab	366aae36bd
4:100540236 MTTP A>G	4	100540236	100540236	A	G	MTTP	c.2323A>G	NM_000253.4	NP_000244.2:p.(Lys775Glu)	NC_000004.11:g.100540236A>G	VUS	1 lab	366bcae47a
5:138223156 CTNNA1 A>T	5	138223156	138223156	A	T	CTNNA1	c.1144-23A>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138223156A>T	(Likely) benign	1 lab	366d89efb8
2:219647025 CYP27A1 C>T	2	219647025	219647025	C	T	CYP27A1	c.120C>T	NM_000784.4	NP_000775.1:p.(Ala40=)	NC_000002.11:g.219647025C>T	(Likely) benign	1 lab	366ebef4dc
7:6431690 RAC1 C>T	7	6431690	6431690	C	T	RAC1	c.225+18C>T	NM_018890.4	NP_061485.1:p.?	NC_000007.13:g.6431690C>T	(Likely) benign	1 lab	3670c7ddbf
2:167144954 SCN9A T>G	2	167144954	167144954	T	G	SCN9A	c.1307A>C	NM_002977.3	NP_002968.1:p.(Glu436Ala)	NC_000002.11:g.167144954T>G	VUS	1 lab	3674cd533f
9:107620889 ABCA1 A>T	9	107620889	107620889	A	T	ABCA1	c.634T>A	NM_005502.4	NP_005493.2:p.(Ser212Thr)	NC_000009.11:g.107620889A>T	(Likely) benign	1 lab	36795ae3d0
12:9016562 A2ML1 GGC>G	12	9016562	9016564	GGC	G	A2ML1	c.3676_3677del	NM_144670.6	NP_653271.3:p.(Ala1226GlnfsTer34)	NC_000012.11:g.9016563_9016564del	(Likely) benign	1 lab	367b6b5ad0
1:3219127 MISSING G>Alt too long to show for this DUP	1	3219127	3402926	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.3219129_3402926dup	VUS	1 lab	367ba5260c
9:100861332 MISSING Ref too long to show for this DEL>A	9	100861332	100884564	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.100861333_100884564del	VUS	1 lab	367bff4156
3:195513179 MUC4 C>T	3	195513179	195513179	C	T	MUC4	c.5272G>A	NM_018406.7	NP_060876.5:p.(Ala1758Thr)	NC_000003.11:g.195513179C>T	(Likely) benign	1 lab	367ee750b0
2:179558755 TTN C>T	2	179558755	179558755	C	T	TTN	c.31427-20G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179558755C>T	(Likely) benign	1 lab	3682dd513b
15:45389453 DUOX2 G>C	15	45389453	45389453	G	C	DUOX2	c.3830C>G	NM_014080.5	NP_054799.4:p.(Ala1277Gly)	NC_000015.9:g.45389453G>C	VUS	1 lab	3683552105
8:19813928 LPL C>G	8	19813928	19813928	C	G	LPL	c.1018+334C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813928C>G	(Likely) benign	1 lab	3684a6de07
16:81388140 GAN G>A	16	81388140	81388140	G	A	GAN	c.413G>A	NM_022041.4	NP_071324.1:p.(Arg138His)	NC_000016.9:g.81388140G>A	(Likely) pathogenic	1 lab	36871512ef
15:85400512 ALPK3 C>T	15	85400512	85400512	C	T	ALPK3	c.2543C>T	NM_020778.5	NP_065829.4:p.(Pro848Leu)	NC_000015.9:g.85400512C>T	VUS	1 lab	3688daa8a6
14:102028070 DIO3 G>A	14	102028070	102028070	G	A	DIO3	c.237G>A	NM_001362.3	NP_001353.4:p.(Gln79=)	NC_000014.8:g.102028070G>A	(Likely) benign	1 lab	36896b7fa2
20:13561632 TASP1 T>TAA	20	13561632	13561648	T	TAA	TASP1	c.404-6_404-5dup	NM_017714.3	NP_060184.2:p.?	NC_000020.10:g.13561647_13561648dup	(Likely) benign	1 lab	368fcdb3e5
8:19822483 LPL AG>A	8	19822483	19822484	AG	A	LPL	c.1428-337del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822484del	(Likely) benign	1 lab	3695ddb743
8:100147839 VPS13B ATT>A	8	100147839	100147842	ATT	A	VPS13B	c.1443_1444del	NM_017890.5	NP_060360.3:p.(Ile481MetfsTer3)	NC_000008.10:g.100147841_100147842del	(Likely) pathogenic	1 lab	3697010b9d
X:70443660 GJB1 G>A	X	70443660	70443660	G	A	GJB1	c.103G>A	NM_000166.6	NP_000157.1:p.(Val35Met)	NC_000023.10:g.70443660G>A	(Likely) pathogenic	1 lab	3697a1610d
19:55255237 KIR2DL3 C>CT	19	55255237	55255238	C	CT	KIR2DL3	c.371-5dup	NM_015868.3	NP_056952.2:p.?	NC_000019.9:g.55255238dup	(Likely) benign	1 lab	36983cc5ca
8:133900328 TG A>G	8	133900328	133900328	A	G	TG	c.2276A>G	NM_003235.5	NP_003226.4:p.(Tyr759Cys)	NC_000008.10:g.133900328A>G	VUS	1 lab	369becf6a8
8:100108614 VPS13B G>A	8	100108614	100108614	G	A	VPS13B	c.366G>A	NM_017890.5	NP_060360.3:p.(Pro122=)	NC_000008.10:g.100108614G>A	(Likely) benign	1 lab	369c966671
17:78071130 CCDC40 GC>G	17	78071130	78071131	GC	G	CCDC40	c.3109del	NM_017950.4	NP_060420.2:p.(Leu1037CysfsTer3)	NC_000017.10:g.78071131del	(Likely) pathogenic	1 lab	369ef85543
17:57676826 DHX40 A>G	17	57676826	57676826	A	G	DHX40	c.1788A>G	NM_024612.5	NP_078888.4:p.(Leu596=)	NC_000017.10:g.57676826A>G	(Likely) benign	1 lab	369f98c5ba
16:81410834 GAN C>A	16	81410834	81410834	C	A	GAN	c.1513C>A	NM_022041.4	NP_071324.1:p.(Leu505Ile)	NC_000016.9:g.81410834C>A	VUS	1 lab	36a70c28b8
16:136847 NPRL3 G>A	16	136847	136847	G	A	NPRL3	c.1492C>T	NM_001243248.2	NP_001230177.1:p.(Arg498Cys)	NC_000016.9:g.136847G>A	VUS	1 lab	36a972419d
12:122261208 SETD1B C>A	12	122261208	122261208	C	A	SETD1B	c.4723C>A	NM_001353345.2	NP_001340274.1:p.(Arg1575=)	NC_000012.11:g.122261208C>A	(Likely) benign	1 lab	36ad6a3507
5:180056925 FLT4 G>A	5	180056925	180056925	G	A	FLT4	c.676+18C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180056925G>A	(Likely) benign	1 lab	36aef3586a
6:32014046 TNXB T>C	6	32014046	32014046	T	C	TNXB	c.10506A>G	NM_019105.8	NP_061978.6:p.(Val3502=)	NC_000006.11:g.32014046T>C	(Likely) benign	1 lab	36b86c0f32
1:55505702 PCSK9 C>A	1	55505702	55505702	C	A	PCSK9	c.192C>A	NM_174936.4	NP_777596.2:p.(Phe64Leu)	NC_000001.10:g.55505702C>A	VUS	1 lab	36ba9c80ae
2:58453843 FANCL G>GAA	2	58453843	58453855	G	GAA	FANCL	c.273+18_273+19dup	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58453854_58453855dup	(Likely) benign	1 lab	36bd659ad7
12:8800817 MFAP5 C>T	12	8800817	8800817	C	T	MFAP5	c.410-18G>A	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8800817C>T	(Likely) benign	1 lab	36c00a1cac
19:11224781 LDLR CAAA>C	19	11224781	11224798	CAAA	C	LDLR	c.1586+358_1586+360del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224796_11224798del	(Likely) benign	1 lab	36c1a6bbc2
22:51066188 ARSA C>A	22	51066188	51066188	C	A	ARSA	c.20G>T	NM_000487.6	NP_000478.3:p.(Arg7Leu)	NC_000022.10:g.51066188C>A	VUS	1 lab	36c2c067d2
13:95157282 DCT A>G	13	95157282	95157282	A	G	DCT	c.-12T>C	NM_001322186.2	NP_001309115.1:p.?	NC_000013.10:g.95157282A>G	(Likely) benign	1 lab	36c3bff391
1:21904139 ALPL TG>T	1	21904139	21904140	TG	T	ALPL	c.1574del	NM_000478.6	NP_000469.3:p.(Ter525=)	NC_000001.10:g.21904140del	(Likely) benign	1 lab	36c4a147b9
9:139942331 MISSING C>Alt too long to show for this DUP	9	139942331	140205315	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.139942333_140205315dup	(Likely) pathogenic	1 lab	36c5b27d1d
13:49580325 MISSING Ref too long to show for this DEL>T	13	49580325	50594591	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.49580326_50594591del	(Likely) pathogenic	1 lab	36c8dde1f3
2:21232766 APOB A>G	2	21232766	21232766	A	G	APOB	c.6974T>C	NM_000384.3	NP_000375.3:p.(Ile2325Thr)	NC_000002.11:g.21232766A>G	VUS	1 lab	36cf96b47f
20:8998805 MISSING T>Alt too long to show for this DUP	20	8998805	9100593	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.8998806_9100593dup	VUS	1 lab	36d3d3cdfc
16:88501683 ZNF469 T>C	16	88501683	88501683	T	C	ZNF469	c.7805T>C	NM_001367624.2	NP_001354553.1:p.(Leu2602Pro)	NC_000016.9:g.88501683T>C	(Likely) benign	1 lab	36d437e0fb
5:127685408 FBN2 C>A	5	127685408	127685408	C	A	FBN2	c.2863+239G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127685408C>A	(Likely) benign	1 lab	36d81add28
16:46771948 MYLK3 C>G	16	46771948	46771948	C	G	MYLK3	c.676G>C	NM_182493.3	NP_872299.2:p.(Gly226Arg)	NC_000016.9:g.46771948C>G	VUS	1 lab	36d96499c1
7:128490904 FLNC GACA>G	7	128490904	128490911	GACA	G	FLNC	c.5451_5453del	NM_001458.5	NP_001449.3:p.(Asn1817del)	NC_000007.13:g.128490909_128490911del	VUS	1 lab	36db00f45c
7:30661064 GARS1 A>G	7	30661064	30661064	A	G	GARS1	c.1415A>G	NM_002047.4	NP_002038.2:p.(His472Arg)	NC_000007.13:g.30661064A>G	(Likely) pathogenic	1 lab	36dee15a5a
6:10792073 MAK T>C	6	10792073	10792073	T	C	MAK	c.1151A>G	NM_001242957.3	NP_001229886.1:p.(Asn384Ser)	NC_000006.11:g.10792073T>C	(Likely) benign	1 lab	36df6028ec
1:237024501 MTR TA>T	1	237024501	237024503	TA	T	MTR	c.2122del	NM_000254.3	NP_000245.2:p.(Ile708LeufsTer5)	NC_000001.10:g.237024503del	(Likely) pathogenic	1 lab	36e16be64f
14:23859547 MYH6 G>T	14	23859547	23859547	G	T	MYH6	c.3451C>A	NM_002471.4	NP_002462.2:p.(Arg1151=)	NC_000014.8:g.23859547G>T	(Likely) benign	1 lab	36e605a2ce
7:152012255 KMT2C G>C	7	152012255	152012255	G	C	KMT2C	c.558C>G	NM_170606.3	NP_733751.2:p.(Asn186Lys)	NC_000007.13:g.152012255G>C	VUS	1 lab	36ef612905
3:179137273 GNB4 A>G	3	179137273	179137273	A	G	GNB4	c.117T>C	NM_021629.4	NP_067642.1:p.(Ser39=)	NC_000003.11:g.179137273A>G	(Likely) benign	1 lab	36efe103ee
1:161821608 ATF6 C>T	1	161821608	161821608	C	T	ATF6	c.1416C>T	NM_007348.4	NP_031374.2:p.(Asn472=)	NC_000001.10:g.161821608C>T	(Likely) benign	1 lab	36f37ee273
2:179472122 TTN C>T	2	179472122	179472122	C	T	TTN	c.53287+6G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472122C>T	(Likely) benign	1 lab	36f3a52ed6
1:63067442 ANGPTL3 A>T	1	63067442	63067442	A	T	ANGPTL3	c.724A>T	NM_014495.4	NP_055310.1:p.(Ile242Phe)	NC_000001.10:g.63067442A>T	VUS	1 lab	36f3e01e0f
6:75839794 COL12A1 G>A	6	75839794	75839794	G	A	COL12A1	c.6210+13C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75839794G>A	(Likely) benign	1 lab	36f49384d8
11:76922374 MYO7A T>TG	11	76922374	76922376	T	TG	MYO7A	c.6231dup	NM_000260.4	NP_000251.3:p.(Lys2078GlufsTer50)	NC_000011.9:g.76922376dup	(Likely) pathogenic	1 lab	36f6059106
17:36491559 GPR179 T>G	17	36491559	36491559	T	G	GPR179	c.1321A>C	NM_001004334.4	NP_001004334.3:p.(Ser441Arg)	NC_000017.10:g.36491559T>G	VUS	1 lab	36f67f5d09
3:129249738 RHO C>G	3	129249738	129249738	C	G	RHO	c.381C>G	NM_000539.3	NP_000530.1:p.(Ser127=)	NC_000003.11:g.129249738C>G	(Likely) benign	1 lab	36f75085c8
15:58724524 LIPC A>G	15	58724524	58724524	A	G	LIPC	c.88+205A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724524A>G	(Likely) benign	1 lab	36f8cd427c
1:156845857 NTRK1 T>C	1	156845857	156845857	T	C	NTRK1	c.1502-15T>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156845857T>C	(Likely) benign	1 lab	37000c0e79
19:8159339 FBN3 G>C	19	8159339	8159339	G	C	FBN3	c.5896C>G	NM_032447.5	NP_115823.3:p.(His1966Asp)	NC_000019.9:g.8159339G>C	(Likely) benign	1 lab	3702479f39
4:107249356 AIMP1 GA>G	4	107249356	107249358	GA	G	AIMP1	c.349del	NM_004757.4	NP_004748.2:p.(Thr117GlnfsTer25)	NC_000004.11:g.107249358del	(Likely) pathogenic	1 lab	3704539f73
4:57798144 REST A>G	4	57798144	57798144	A	G	REST	c.3120A>G	NM_005612.5	NP_005603.3:p.(Gln1040=)	NC_000004.11:g.57798144A>G	(Likely) benign	1 lab	3706a13c28
3:52439168 BAP1 C>T	3	52439168	52439168	C	T	BAP1	c.1074G>A	NM_004656.4	NP_004647.1:p.(Pro358=)	NC_000003.11:g.52439168C>T	(Likely) benign	1 lab	3707e0792f
4:114290960 ANK2 A>C	4	114290960	114290960	A	C	ANK2	c.11609A>C	NM_001148.6	NP_001139.3:p.(Lys3870Thr)	NC_000004.11:g.114290960A>C	VUS	1 lab	37101daeff
17:1670303 SERPINF1 G>A	17	1670303	1670303	G	A	SERPINF1	c.84+15G>A	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1670303G>A	(Likely) benign	1 lab	3710429f4c
1:116936330 ATP1A1 G>A	1	116936330	116936330	G	A	ATP1A1	c.1645G>A	NM_001160233.2	NP_001153705.1:p.(Gly549Arg)	NC_000001.10:g.116936330G>A	VUS	1 lab	3714e14331
8:145736954 RECQL4 G>GAC	8	145736954	145736959	G	GAC	RECQL4	c.3503-18_3503-17dup	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145736958_145736959dup	(Likely) benign	1 lab	371ca1bed9
5:64075129 CWC27 Ref too long to show for this DEL>G	5	64075129	64100990	Ref too long to show for this DEL	G	CWC27	c.140-2616_938+777del	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64075132_64100990del	VUS	1 lab	371d3f2afa
9:133948130 LAMC3 C>T	9	133948130	133948130	C	T	LAMC3	c.3325C>T	NM_006059.4	NP_006050.3:p.(Gln1109Ter)	NC_000009.11:g.133948130C>T	(Likely) pathogenic	1 lab	371dead009
12:48372467 COL2A1 G>C	12	48372467	48372467	G	C	COL2A1	c.2808C>G	NM_001844.5	NP_001835.3:p.(Gly936=)	NC_000012.11:g.48372467G>C	(Likely) benign	1 lab	37229b8af3
10:54011594 PRKG1 A>T	10	54011594	54011594	A	T	PRKG1	c.1173+168A>T	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.54011594A>T	(Likely) benign	1 lab	3724dd34de
15:48905315 FBN1 T>C	15	48905315	48905315	T	C	FBN1	c.165-26A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48905315T>C	(Likely) benign	1 lab	3725f7b801
15:40313141 EIF2AK4 C>T	15	40313141	40313141	C	T	EIF2AK4	c.4215C>T	NM_001013703.4	NP_001013725.2:p.(Gly1405=)	NC_000015.9:g.40313141C>T	(Likely) benign	1 lab	372797d484
19:12640431 MISSING A>Alt too long to show for this DUP	19	12640431	13243643	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.12640432_13243643dup	(Likely) pathogenic	1 lab	37279f1d4f
15:41277551 INO80 T>C	15	41277551	41277551	T	C	INO80	c.3906A>G	NM_017553.3	NP_060023.1:p.(Glu1302=)	NC_000015.9:g.41277551T>C	(Likely) benign	1 lab	3728c9c218
5:179263446 SQSTM1 G>A	5	179263446	179263446	G	A	SQSTM1	c.1176G>A	NM_003900.5	NP_003891.1:p.(Pro392=)	NC_000005.9:g.179263446G>A	(Likely) benign	1 lab	372b03ce40
X:21985464 SMS C>T	X	21985464	21985464	C	T	SMS	c.170+30C>T	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21985464C>T	(Likely) benign	1 lab	372b082d49
9:107546274 ABCA1 CAA>C	9	107546274	107546290	CAA	C	ABCA1	c.*320_*321del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546289_107546290del	(Likely) benign	1 lab	372b1abb86
6:32012634 TNXB T>C	6	32012634	32012634	T	C	TNXB	c.10922-141A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012634T>C	(Likely) benign	1 lab	372d3e9f98
9:33797978 PRSS3 G>A	9	33797978	33797978	G	A	PRSS3	c.394G>A	NM_001197097.3	NP_001184026.3:p.(Val132Ile)	NC_000009.11:g.33797978G>A	(Likely) benign	1 lab	372dac15b3
8:144297130 GPIHBP1 C>T	8	144297130	144297130	C	T	GPIHBP1	c.296-4C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297130C>T	(Likely) benign	1 lab	372ee4cd9c
7:55240834 EGFR G>A	7	55240834	55240834	G	A	EGFR	c.2061+17G>A	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55240834G>A	(Likely) benign	1 lab	3732456c1f
15:89856111 FANCI G>A	15	89856111	89856111	G	A	FANCI	c.3652-24G>A	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89856111G>A	(Likely) benign	1 lab	3733aee257
5:112179371 APC A>G	5	112179371	112179371	A	G	APC	c.8080A>G	NM_000038.6	NP_000029.2:p.(Ile2694Val)	NC_000005.9:g.112179371A>G	VUS	1 lab	3733e28119
16:920871 LMF1 G>A	16	920871	920871	G	A	LMF1	c.691C>T	NM_001352018.2	NP_001338947.1:p.(Arg231Trp)	NC_000016.9:g.920871G>A	VUS	1 lab	37351f3adc
7:152346364 XRCC2 T>C	7	152346364	152346364	T	C	XRCC2	c.206A>G	NM_005431.2	NP_005422.1:p.(Lys69Arg)	NC_000007.13:g.152346364T>C	(Likely) benign	1 lab	37354088f6
17:41246815 BRCA1 CATT>C	17	41246815	41246822	CATT	C	BRCA1	c.730_732del	NM_007294.4	NP_009225.1:p.(Asn244del)	NC_000017.10:g.41246820_41246822del	VUS	1 lab	3736b15868
2:212578379 ERBB4 TAA>T	2	212578379	212578393	TAA	T	ERBB4	c.884-8_884-7del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578392_212578393del	(Likely) benign	1 lab	37370a915f
10:69902806 MYPN C>T	10	69902806	69902806	C	T	MYPN	c.1012C>T	NM_032578.4	NP_115967.2:p.(Arg338Cys)	NC_000010.10:g.69902806C>T	VUS	1 lab	3737e0edbc
9:131388704 SPTAN1 C>T	9	131388704	131388704	C	T	SPTAN1	c.6314C>T	NM_001363759.2	NP_001350688.1:p.(Ala2105Val)	NC_000009.11:g.131388704C>T	(Likely) benign	1 lab	3737fa6e55
2:112785955 MERTK A>C	2	112785955	112785955	A	C	MERTK	c.2514A>C	NM_006343.3	NP_006334.2:p.(Arg838Ser)	NC_000002.11:g.112785955A>C	VUS	1 lab	3739474179
11:116706531 APOA1 G>A	11	116706531	116706531	G	A	APOA1	c.470C>T	NM_001318021.1	NP_001304950.1:p.(Thr157Ile)	NC_000011.9:g.116706531G>A	(Likely) benign	1 lab	373f17ef87
14:77786938 POMT2 T>C	14	77786938	77786938	T	C	POMT2	c.87A>G	NM_013382.7	NP_037514.2:p.(Ala29=)	NC_000014.8:g.77786938T>C	(Likely) benign	1 lab	373fd81f5c
16:46771808 MYLK3 A>G	16	46771808	46771808	A	G	MYLK3	c.816T>C	NM_182493.3	NP_872299.2:p.(Asn272=)	NC_000016.9:g.46771808A>G	(Likely) benign	1 lab	3741c7ca00
15:48719835 FBN1 C>G	15	48719835	48719835	C	G	FBN1	c.7133G>C	NM_000138.5	NP_000129.3:p.(Cys2378Ser)	NC_000015.9:g.48719835C>G	(Likely) pathogenic	1 lab	3745d4a23f
16:88804411 PIEZO1 G>A	16	88804411	88804411	G	A	PIEZO1	c.951C>T	NM_001142864.4	NP_001136336.2:p.(Gly317=)	NC_000016.9:g.88804411G>A	(Likely) benign	1 lab	3747c84a43
19:11215979 LDLR G>T	19	11215979	11215979	G	T	LDLR	c.397G>T	NM_000527.5	NP_000518.1:p.(Asp133Tyr)	NC_000019.9:g.11215979G>T	(Likely) pathogenic	1 lab	3749480d08
5:127653826 FBN2 T>C	5	127653826	127653826	T	C	FBN2	c.4717+15A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653826T>C	(Likely) benign	1 lab	374b460a2c
11:67225831 CABP4 G>A	11	67225831	67225831	G	A	CABP4	c.337-11G>A	NM_001300895.3	NP_001287824.1:p.?	NC_000011.9:g.67225831G>A	(Likely) benign	1 lab	374f65d206
2:69590773 GFPT1 A>C	2	69590773	69590773	A	C	GFPT1	c.253T>G	NM_001244710.2	NP_001231639.1:p.(Phe85Val)	NC_000002.11:g.69590773A>C	(Likely) pathogenic	1 lab	374fd51252
1:112524560 KCND3 G>A	1	112524560	112524560	G	A	KCND3	c.789C>T	NM_004980.5	NP_004971.2:p.(Asp263=)	NC_000001.10:g.112524560G>A	(Likely) benign	1 lab	37501f7875
7:6844687 MISSING C>Alt too long to show for this DUP	7	6844687	7469637	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.6844690_7469637dup	VUS	1 lab	37513500a8
4:100513343 MTTP A>T	4	100513343	100513343	A	T	MTTP	c.758+396A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100513343A>T	(Likely) benign	1 lab	3752b89600
2:179605794 TTN G>T	2	179605794	179605794	G	T	TTN	c.12166C>A	NM_001267550.2	NP_001254479.2:p.(Pro4056Thr)	NC_000002.11:g.179605794G>T	VUS	1 lab	37548f2860
12:121001672 RNF10 T>TACGGCAGC	12	121001672	121001680	T	TACGGCAGC	RNF10	c.1592_1599dup	NM_014868.5	NP_055683.3:p.(Leu534ThrfsTer60)	NC_000012.11:g.121001673_121001680dup	VUS	1 lab	3756e4171a
10:61833636 ANK3 C>T	10	61833636	61833636	C	T	ANK3	c.7003G>A	NM_020987.5	NP_066267.2:p.(Glu2335Lys)	NC_000010.10:g.61833636C>T	VUS	1 lab	3759dbe2a6
11:131939421 MISSING G>Alt too long to show for this DUP	11	131939421	132309818	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.131939422_132309818dup	VUS	1 lab	375e66a9a7
12:111351974 MYL2 A>ATC	12	111351974	111351975	A	ATC	MYL2	c.274+15_274+16insGA	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351974_111351975insTC	(Likely) benign	1 lab	3760823433
8:59409263 CYP7A1 A>AG	8	59409263	59409265	A	AG	CYP7A1	c.807dup	NM_000780.4	NP_000771.2:p.(Phe270LeufsTer2)	NC_000008.10:g.59409265dup	(Likely) pathogenic	1 lab	3764a7ea87
6:7583862 DSP C>T	6	7583862	7583862	C	T	DSP	c.6367C>T	NM_004415.4	NP_004406.2:p.(Arg2123Cys)	NC_000006.11:g.7583862C>T	VUS	1 lab	3766a24908
12:990934 WNK1 C>T	12	990934	990934	C	T	WNK1	c.3968C>T	NM_001184985.2	NP_001171914.1:p.(Thr1323Ile)	NC_000012.11:g.990934C>T	VUS	1 lab	3766b3c9ce
1:110151318 GNAT2 C>T	1	110151318	110151318	C	T	GNAT2	c.396G>A	NM_005272.5	NP_005263.1:p.(Lys132=)	NC_000001.10:g.110151318C>T	(Likely) benign	1 lab	3766b65252
2:21256287 APOB G>A	2	21256287	21256287	G	A	APOB	c.1008C>T	NM_000384.3	NP_000375.3:p.(Thr336=)	NC_000002.11:g.21256287G>A	VUS	1 lab	376bafef26
19:11210912 LDLR C>A	19	11210912	11210912	C	A	LDLR	c.81C>A	NM_000527.5	NP_000518.1:p.(Cys27Ter)	NC_000019.9:g.11210912C>A	(Likely) pathogenic	1 lab	37745effef
19:11222283 LDLR T>C	19	11222283	11222283	T	C	LDLR	c.1154T>C	NM_000527.5	NP_000518.1:p.(Leu385Pro)	NC_000019.9:g.11222283T>C	VUS	1 lab	3778df9dc4
2:198266512 SF3B1 C>T	2	198266512	198266512	C	T	SF3B1	c.2324G>A	NM_012433.4	NP_036565.2:p.(Arg775Gln)	NC_000002.11:g.198266512C>T	VUS	1 lab	377a44c7a8
6:32009354 TNXB T>C	6	32009354	32009354	T	C	TNXB	c.12628-127A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009354T>C	(Likely) benign	1 lab	377b12fffa
17:39925881 JUP C>T	17	39925881	39925881	C	T	JUP	c.257G>A	NM_001352773.2	NP_001339702.1:p.(Arg86Gln)	NC_000017.10:g.39925881C>T	VUS	1 lab	3780832b1b
6:112441544 LAMA4 C>G	6	112441544	112441544	C	G	LAMA4	c.4607G>C	NM_001105206.3	NP_001098676.2:p.(Gly1536Ala)	NC_000006.11:g.112441544C>G	VUS	1 lab	3780eda37d
9:107593430 ABCA1 T>A	9	107593430	107593430	T	A	ABCA1	c.1716-48A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593430T>A	(Likely) benign	1 lab	378225b583
17:15134239 PMP22 C>T	17	15134239	15134239	C	T	PMP22	c.478G>A	NM_000304.4	NP_000295.1:p.(Glu160Lys)	NC_000017.10:g.15134239C>T	VUS	1 lab	3782419b12
6:66344040 EYS G>Alt too long to show for this DUP	6	66344040	66407610	G	Alt too long to show for this DUP	EYS	c.-448+9418_-333+5630dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.66344041_66407610dup	VUS	1 lab	3785b35ca9
3:50369184 RASSF1 C>T	3	50369184	50369184	C	T	RASSF1	c.566G>A	NM_007182.5	NP_009113.3:p.(Arg189Gln)	NC_000003.11:g.50369184C>T	(Likely) benign	1 lab	3785d1bfeb
12:72028607 ZFC3H1 TA>T	12	72028607	72028620	TA	T	ZFC3H1	c.2239-3del	NM_144982.5	NP_659419.3:p.?	NC_000012.11:g.72028620del	(Likely) benign	1 lab	3785f7292a
16:57005271 CETP C>T	16	57005271	57005271	C	T	CETP	c.636C>T	NM_000078.3	NP_000069.2:p.(Ala212=)	NC_000016.9:g.57005271C>T	VUS	1 lab	378812f4d0
15:48812727 FBN1 G>A	15	48812727	48812727	G	A	FBN1	c.1147+129C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48812727G>A	(Likely) benign	1 lab	3788506fc7
1:161277101 MPZ C>T	1	161277101	161277101	C	T	MPZ	c.181G>A	NM_000530.8	NP_000521.2:p.(Asp61Asn)	NC_000001.10:g.161277101C>T	(Likely) pathogenic	1 lab	3788d1191d
1:236922819 ACTN2 C>G	1	236922819	236922819	C	G	ACTN2	c.2302-205C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922819C>G	(Likely) benign	1 lab	378b8227fc
19:55668489 TNNI3 G>T	19	55668489	55668489	G	T	TNNI3	c.37C>A	NM_000363.5	NP_000354.4:p.(Arg13Ser)	NC_000019.9:g.55668489G>T	VUS	1 lab	378d14a6ee
1:236908012 ACTN2 G>C	1	236908012	236908012	G	C	ACTN2	c.718G>C	NM_001278344.2	NP_001265273.1:p.(Glu240Gln)	NC_000001.10:g.236908012G>C	VUS	1 lab	379370a44d
X:32430156 DMD G>A	X	32430156	32430156	G	A	DMD	c.19C>T	NM_004012.4	NP_004003.2:p.(Arg7Ter)	NC_000023.10:g.32430156G>A	VUS	1 lab	3798956c9c
17:48267349 COL1A1 C>T	17	48267349	48267349	C	T	COL1A1	c.2559+13G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267349C>T	(Likely) benign	1 lab	379bdabd37
6:7570987 DSP T>TATGAGAG	6	7570987	7570995	T	TATGAGAG	DSP	c.1701+193_1701+199dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7570989_7570995dup	(Likely) benign	1 lab	37a43417db
16:68721437 CDH3 G>A	16	68721437	68721437	G	A	CDH3	c.1593G>A	NM_001793.6	NP_001784.2:p.(Thr531=)	NC_000016.9:g.68721437G>A	VUS	1 lab	37a52fa1d5
17:45234599 CDC27 T>G	17	45234599	45234599	T	G	CDC27	c.627A>C	NM_001114091.4	NP_001107563.1:p.(Thr209=)	NC_000017.10:g.45234599T>G	(Likely) benign	1 lab	37a54bab11
1:6165491 CHD5 C>A	1	6165491	6165491	C	A	CHD5	c.*47-4G>T	NM_015557.3	NP_056372.1:p.?	NC_000001.10:g.6165491C>A	(Likely) benign	1 lab	37aa08ddd2
19:11216194 LDLR C>G	19	11216194	11216194	C	G	LDLR	c.612C>G	NM_000527.5	NP_000518.1:p.(Cys204Trp)	NC_000019.9:g.11216194C>G	(Likely) pathogenic	1 lab	37acdf4847
10:102771666 PDZD7 G>A	10	102771666	102771666	G	A	PDZD7	c.1933+16C>T	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102771666G>A	(Likely) benign	1 lab	37aeb2d4f2
6:7562628 DSP C>A	6	7562628	7562628	C	A	DSP	c.598-257C>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7562628C>A	(Likely) benign	1 lab	37afef67d4
22:50885893 SBF1 CCA>C	22	50885893	50885897	CCA	C	SBF1	c.5452-13_5452-12del	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50885896_50885897del	(Likely) benign	1 lab	37b0ea8338
20:10621302 JAG1 C>G	20	10621302	10621302	C	G	JAG1	c.3199+129G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621302C>G	(Likely) benign	1 lab	37b1e5b7ee
X:32632588 DMD G>A	X	32632588	32632588	G	A	DMD	c.963-18C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32632588G>A	(Likely) benign	1 lab	37b3e216bc
17:57651116 DHX40 T>C	17	57651116	57651116	T	C	DHX40	c.562T>C	NM_024612.5	NP_078888.4:p.(Leu188=)	NC_000017.10:g.57651116T>C	(Likely) benign	1 lab	37b835a5d8
X:50350671 SHROOM4 CTCT>C	X	50350671	50350676	CTCT	C	SHROOM4	c.3468_3470del	NM_020717.4	NP_065768.2:p.(Glu1158del)	NC_000023.10:g.50350674_50350676del	(Likely) benign	1 lab	37b8d33abc
4:126371007 FAT4 A>G	4	126371007	126371007	A	G	FAT4	c.8842A>G	NM_001291303.3	NP_001278232.1:p.(Ile2948Val)	NC_000004.11:g.126371007A>G	(Likely) benign	1 lab	37b8ff33e6
6:70950375 COL9A1 G>GA	6	70950375	70950385	G	GA	COL9A1	c.2079+16dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70950385dup	(Likely) benign	1 lab	37b9abcacc
16:54318528 IRX3 A>G	16	54318528	54318528	A	G	IRX3	c.1265T>C	NM_024336.3	NP_077312.2:p.(Leu422Pro)	NC_000016.9:g.54318528A>G	(Likely) benign	1 lab	37bb00de1d
10:104591334 CYP17A1 C>A	10	104591334	104591334	C	A	CYP17A1	c.1174G>T	NM_000102.4	NP_000093.1:p.(Val392Phe)	NC_000010.10:g.104591334C>A	(Likely) pathogenic	1 lab	37c28f9f8f
10:73767494 CHST3 G>A	10	73767494	73767494	G	A	CHST3	c.705G>A	NM_004273.5	NP_004264.2:p.(Thr235=)	NC_000010.10:g.73767494G>A	(Likely) benign	1 lab	37c31c631a
6:112575108 LAMA4 C>G	6	112575108	112575108	C	G	LAMA4	c.245G>C	NM_001105209.3	NP_001098679.1:p.(Arg82Pro)	NC_000006.11:g.112575108C>G	VUS	1 lab	37c41fdf04
3:154860125 MME G>GA	3	154860125	154860131	G	GA	MME	c.1188+12dup	NM_007288.3	NP_009219.2:p.?	NC_000003.11:g.154860131dup	(Likely) benign	1 lab	37c626bca7
19:10431883 RAVER1 C>T	19	10431883	10431883	C	T	RAVER1	c.1314G>A	NM_133452.3	NP_597709.3:p.(Leu438=)	NC_000019.9:g.10431883C>T	(Likely) benign	1 lab	37cc0e2c8b
2:21236028 APOB T>C	2	21236028	21236028	T	C	APOB	c.4216+4A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236028T>C	VUS	1 lab	37cd6964cb
12:122252209 SETD1B A>C	12	122252209	122252209	A	C	SETD1B	c.2088A>C	NM_001353345.2	NP_001340274.1:p.(Pro696=)	NC_000012.11:g.122252209A>C	(Likely) benign	1 lab	37d80aaf70
11:68206087 LRP5 G>T	11	68206087	68206087	G	T	LRP5	c.4285G>T	NM_002335.4	NP_002326.2:p.(Gly1429Trp)	NC_000011.9:g.68206087G>T	VUS	1 lab	37d9063585
14:68191170 RDH12 CTT>C	14	68191170	68191172	CTT	C	RDH12	c.69-19_69-18del	NM_152443.3	NP_689656.2:p.?	NC_000014.8:g.68191171_68191172del	(Likely) benign	1 lab	37df3638a1
15:77092605 SCAPER G>A	15	77092605	77092605	G	A	SCAPER	c.595C>T	NM_020843.4	NP_065894.2:p.(Arg199Ter)	NC_000015.9:g.77092605G>A	(Likely) pathogenic	1 lab	37dff5000b
3:138664707 FOXL2 A>C	3	138664707	138664707	A	C	FOXL2	c.858T>G	NM_023067.4	NP_075555.1:p.(Pro286=)	NC_000003.11:g.138664707A>C	(Likely) benign	1 lab	37e027a911
8:100712138 VPS13B C>A	8	100712138	100712138	C	A	VPS13B	c.6507C>A	NM_017890.5	NP_060360.3:p.(Val2169=)	NC_000008.10:g.100712138C>A	(Likely) benign	1 lab	37e08081d5
12:50499345 GPD1 TGTG>T	12	50499345	50499350	TGTG	T	GPD1	c.237_239del	NM_005276.4	NP_005267.2:p.(Val80del)	NC_000012.11:g.50499348_50499350del	VUS	1 lab	37e1dceaf7
14:51095135 ATL1 G>A	14	51095135	51095135	G	A	ATL1	c.1506G>A	NM_001127713.1	NP_001121185.1:p.(Glu502=)	NC_000014.8:g.51095135G>A	(Likely) benign	1 lab	37e9a5324f
12:122260380 SETD1B G>C	12	122260380	122260380	G	C	SETD1B	c.3911-16G>C	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122260380G>C	(Likely) benign	1 lab	37ec057956
1:5933375 NPHP4 G>A	1	5933375	5933375	G	A	NPHP4	c.3252C>T	NM_015102.5	NP_055917.1:p.(Asn1084=)	NC_000001.10:g.5933375G>A	(Likely) benign	1 lab	37f0e18fef
5:95743708 PCSK1 C>T	5	95743708	95743708	C	T	PCSK1	c.1196+219G>A	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95743708C>T	(Likely) benign	1 lab	37f4e35866
1:161276546 MPZ C>T	1	161276546	161276546	C	T	MPZ	c.400G>A	NM_000530.8	NP_000521.2:p.(Asp134Asn)	NC_000001.10:g.161276546C>T	(Likely) pathogenic	1 lab	37f602c156
10:69408517 CTNNA3 C>T	10	69408517	69408517	C	T	CTNNA3	c.12G>A	NM_001291133.2	NP_001278062.1:p.(Thr4=)	NC_000010.10:g.69408517C>T	(Likely) benign	1 lab	37f697affa
X:153820215 MISSING G>Alt too long to show for this DUP	X	153820215	153940749	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153820217_153940749dup	(Likely) pathogenic	1 lab	37fa9e5a6e
12:112058590 MISSING C>Alt too long to show for this DUP	12	112058590	112172724	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.112058592_112172724dup	VUS	1 lab	37faff5cd7
4:140811063 MAML3 TTGC>T	4	140811063	140811122	TTGC	T	MAML3	c.1524_1526del	NM_018717.5	NP_061187.3:p.(Gln510del)	NC_000004.11:g.140811120_140811122del	(Likely) benign	1 lab	37fb75ef80
9:8791149 PTPRD Ref too long to show for this DEL>A	9	8791149	8820855	Ref too long to show for this DEL	A	PTPRD	c.-103-86906_-103-57204del	NM_002839.4	NP_002830.1:p.?	NC_000009.11:g.8791153_8820855del	VUS	1 lab	37ff9c859f
1:197390837 CRB1 C>T	1	197390837	197390837	C	T	CRB1	c.1672C>T	NM_001257965.2	NP_001244894.1:p.(Leu558=)	NC_000001.10:g.197390837C>T	(Likely) benign	1 lab	380094b78d
21:45750089 CFAP410 C>T	21	45750089	45750089	C	T	CFAP410	c.1120G>A	NM_001271441.2	NP_001258370.1:p.(Ala374Thr)	NC_000021.8:g.45750089C>T	(Likely) benign	1 lab	3801127ad1
4:110791222 LRIT3 G>A	4	110791222	110791222	G	A	LRIT3	c.1317G>A	NM_198506.5	NP_940908.3:p.(Lys439=)	NC_000004.11:g.110791222G>A	(Likely) benign	1 lab	3804294be0
22:51144513 SHANK3 C>G	22	51144513	51144513	C	G	SHANK3	c.2268C>G	NM_001372044.2	NP_001358973.1:p.(Pro756=)	NC_000022.10:g.51144513C>G	(Likely) benign	1 lab	380632f84a
16:57015085 CETP G>A	16	57015085	57015085	G	A	CETP	c.1162G>A	NM_000078.3	NP_000069.2:p.(Val388Ile)	NC_000016.9:g.57015085G>A	(Likely) benign	1 lab	38064f32b2
9:131394437 SPTAN1 G>C	9	131394437	131394437	G	C	SPTAN1	c.6794G>C	NM_001130438.3	NP_001123910.1:p.(Ser2265Thr)	NC_000009.11:g.131394437G>C	VUS	1 lab	380756c57b
7:73467650 ELN CTG>C	7	73467650	73467689	CTG	C	ELN	c.1096+49_1096+50del	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73467688_73467689del	(Likely) benign	1 lab	380fe235d0
13:21555679 LATS2 T>G	13	21555679	21555679	T	G	LATS2	c.2591A>C	NM_014572.3	NP_055387.2:p.(Gln864Pro)	NC_000013.10:g.21555679T>G	VUS	1 lab	38108f4eb9
19:2121726 AP3D1 C>T	19	2121726	2121726	C	T	AP3D1	c.1101+7G>A	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2121726C>T	(Likely) benign	1 lab	3813b3a3d8
9:94800584 SPTLC1 C>T	9	94800584	94800584	C	T	SPTLC1	c.1200G>A	NM_001281303.2	NP_001268232.1:p.(Glu400=)	NC_000009.11:g.94800584C>T	(Likely) benign	1 lab	3814c5016e
6:30709027 FLOT1 G>A	6	30709027	30709027	G	A	FLOT1	c.294C>T	NM_005803.4	NP_005794.1:p.(His98=)	NC_000006.11:g.30709027G>A	(Likely) benign	1 lab	38154cd8fd
8:1928819 MISSING Ref too long to show for this DEL>T	8	1928819	1981430	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.1928822_1981430del	VUS	1 lab	381890b21f
16:70287192 AARS1 C>T	16	70287192	70287192	C	T	AARS1	c.2700G>A	NM_001605.3	NP_001596.2:p.(Thr900=)	NC_000016.9:g.70287192C>T	(Likely) benign	1 lab	381a322547
12:27800794 PPFIBP1 A>T	12	27800794	27800794	A	T	PPFIBP1	c.471+19A>T	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27800794A>T	(Likely) benign	1 lab	381a5e97d1
19:18085072 KCNN1 C>A	19	18085072	18085072	C	A	KCNN1	c.375C>A	NM_002248.5	NP_002239.2:p.(Thr125=)	NC_000019.9:g.18085072C>A	(Likely) benign	1 lab	381b8c557f
X:32519974 DMD C>G	X	32519974	32519974	C	G	DMD	c.1924-15G>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32519974C>G	(Likely) benign	1 lab	381f5e41b6
X:49098512 CCDC22 C>A	X	49098512	49098512	C	A	CCDC22	c.259C>A	NM_014008.5	NP_054727.1:p.(Gln87Lys)	NC_000023.10:g.49098512C>A	VUS	1 lab	382111e89a
9:79968318 VPS13A A>T	9	79968318	79968318	A	T	VPS13A	c.7420-7A>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79968318A>T	(Likely) benign	1 lab	38215d4878
1:1219471 SCNN1D G>C	1	1219471	1219471	G	C	SCNN1D	c.464+1G>C	NM_001130413.4	NP_001123885.2:p.?	NC_000001.10:g.1219471G>C	VUS	1 lab	3822b2d260
1:25889142 LDLRAP1 C>T	1	25889142	25889142	C	T	LDLRAP1	c.467C>T	NM_015627.3	NP_056442.2:p.(Ala156Val)	NC_000001.10:g.25889142C>T	VUS	1 lab	38248cf043
X:49071851 CACNA1F C>T	X	49071851	49071851	C	T	CACNA1F	c.3422G>A	NM_005183.4	NP_005174.2:p.(Arg1141His)	NC_000023.10:g.49071851C>T	(Likely) benign	1 lab	3826f674ff
4:183721211 TENM3 C>G	4	183721211	183721211	C	G	TENM3	c.7807C>G	NM_001080477.4	NP_001073946.1:p.(Leu2603Val)	NC_000004.11:g.183721211C>G	VUS	1 lab	38275f648a
3:148847746 HPS3 C>G	3	148847746	148847746	C	G	HPS3	c.217+19C>G	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148847746C>G	(Likely) benign	1 lab	38282089a6
X:107978080 IRS4 G>A	X	107978080	107978080	G	A	IRS4	c.1495C>T	NM_003604.2	NP_003595.1:p.(Arg499Trp)	NC_000023.10:g.107978080G>A	VUS	1 lab	3833054a4d
20:62641605 PRPF6 G>C	20	62641605	62641605	G	C	PRPF6	c.1239G>C	NM_012469.4	NP_036601.2:p.(Leu413=)	NC_000020.10:g.62641605G>C	(Likely) benign	1 lab	3833b43ea3
1:161278282 MPZ G>C	1	161278282	161278282	G	C	MPZ	c.68-1068C>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161278282G>C	(Likely) benign	1 lab	3835568eba
2:47601206 EPCAM A>G	2	47601206	47601206	A	G	EPCAM	c.425+19A>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47601206A>G	(Likely) benign	1 lab	383a00f4d2
1:147230822 GJA5 G>A	1	147230822	147230822	G	A	GJA5	c.525C>T	NM_005266.7	NP_005257.2:p.(Tyr175=)	NC_000001.10:g.147230822G>A	(Likely) benign	1 lab	383def30cd
20:10639568 JAG1 G>C	20	10639568	10639568	G	C	JAG1	c.440-198C>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639568G>C	(Likely) benign	1 lab	3842e31d05
6:16146884 MYLIP C>T	6	16146884	16146884	C	T	MYLIP	c.1249-9C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16146884C>T	(Likely) benign	1 lab	38440a1fe5
2:189861899 COL3A1 T>C	2	189861899	189861899	T	C	COL3A1	c.1770T>C	NM_000090.4	NP_000081.2:p.(Pro590=)	NC_000002.11:g.189861899T>C	(Likely) benign	1 lab	3844eaf0f2
X:79886019 MISSING C>Alt too long to show for this DUP	X	79886019	79971528	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.79886023_79971528dup	VUS	1 lab	384685208d
12:30789975 IPO8 C>T	12	30789975	30789975	C	T	IPO8	c.2636G>A	NM_006390.4	NP_006381.2:p.(Arg879Lys)	NC_000012.11:g.30789975C>T	(Likely) benign	1 lab	3847fc0b8c
5:158588633 RNF145 GAAAAA>G	5	158588633	158588648	GAAAAA	G	RNF145	c.1270-8_1270-4del	NM_001199383.2	NP_001186312.1:p.?	NC_000005.9:g.158588644_158588648del	(Likely) benign	1 lab	384883f7f0
18:47088741 LIPG C>T	18	47088741	47088741	C	T	LIPG	c.63C>T	NM_006033.4	NP_006024.1:p.(Ser21=)	NC_000018.9:g.47088741C>T	(Likely) benign	1 lab	384dd1461c
4:25675925 SLC34A2 C>CTT	4	25675925	25675928	C	CTT	SLC34A2	c.1223_1224dup	NM_001177999.2	NP_001171470.2:p.(Pro409PhefsTer6)	NC_000004.11:g.25675927_25675928dup	(Likely) pathogenic	1 lab	3852a4960c
6:123588908 TRDN A>T	6	123588908	123588908	A	T	TRDN	c.1739-12T>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123588908A>T	(Likely) benign	1 lab	3854d5a2b8
16:67976886 LCAT G>A	16	67976886	67976886	G	A	LCAT	c.312-7C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976886G>A	(Likely) benign	1 lab	38557f3e9a
7:128496630 FLNC G>A	7	128496630	128496630	G	A	FLNC	c.7310G>A	NM_001458.5	NP_001449.3:p.(Arg2437Gln)	NC_000007.13:g.128496630G>A	VUS	1 lab	385619e411
5:149242706 PDE6A GCTT>G	5	149242706	149242714	GCTT	G	PDE6A	c.2479_2481del	NM_000440.3	NP_000431.2:p.(Lys827del)	NC_000005.9:g.149242712_149242714del	(Likely) benign	1 lab	38582863b1
15:31354764 TRPM1 T>C	15	31354764	31354764	T	C	TRPM1	c.1140+18A>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31354764T>C	(Likely) benign	1 lab	3858a263e6
2:96957470 SNRNP200 C>T	2	96957470	96957470	C	T	SNRNP200	c.2310+19G>A	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96957470C>T	(Likely) benign	1 lab	38594cfefb
2:179440808 TTN G>A	2	179440808	179440808	G	A	TTN	c.70051C>T	NM_001267550.2	NP_001254479.2:p.(Arg23351Ter)	NC_000002.11:g.179440808G>A	(Likely) pathogenic	1 lab	38596480ab
4:100511261 MTTP C>CT	4	100511261	100511270	C	CT	MTTP	c.501+363dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100511270dup	(Likely) benign	1 lab	385eeb5468
1:25880524 LDLRAP1 C>T	1	25880524	25880524	C	T	LDLRAP1	c.200C>T	NM_015627.3	NP_056442.2:p.(Ser67Leu)	NC_000001.10:g.25880524C>T	VUS	1 lab	3860bb7ab6
2:179615240 TTN A>G	2	179615240	179615240	A	G	TTN	c.11887T>C	NM_133379.5	NP_596870.2:p.(Phe3963Leu)	NC_000002.11:g.179615240A>G	VUS	1 lab	3863aa73bc
8:82355621 PMP2 A>G	8	82355621	82355621	A	G	PMP2	c.*12T>C	NM_002677.5	NP_002668.1:p.?	NC_000008.10:g.82355621A>G	(Likely) benign	1 lab	3866baacd5
1:236900597 ACTN2 G>GTA	1	236900597	236900598	G	GTA	ACTN2	c.876+83_876+84insTA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTA	(Likely) benign	1 lab	386acd19d5
10:69926239 MYPN C>T	10	69926239	69926239	C	T	MYPN	c.1789C>T	NM_032578.4	NP_115967.2:p.(Arg597Cys)	NC_000010.10:g.69926239C>T	VUS	1 lab	386b8b1265
7:97944926 BAIAP2L1 TA>T	7	97944926	97944939	TA	T	BAIAP2L1	c.487-3del	NM_018842.5	NP_061330.2:p.?	NC_000007.13:g.97944939del	(Likely) benign	1 lab	386d0dbc28
X:38145166 RPGR T>TCCTCCCCTTCCA	X	38145166	38145191	T	TCCTCCCCTTCCA	RPGR	c.3074_3085dup	NM_001034853.2	NP_001030025.1:p.(Val1025_Glu1028dup)	NC_000023.10:g.38145180_38145191dup	(Likely) benign	1 lab	386ff2f9c2
10:69966635 MYPN G>A	10	69966635	69966635	G	A	MYPN	c.3768G>A	NM_032578.4	NP_115967.2:p.(Ser1256=)	NC_000010.10:g.69966635G>A	(Likely) benign	1 lab	38732be2ea
1:216061875 USH2A G>A	1	216061875	216061875	G	A	USH2A	c.8116C>T	NM_206933.4	NP_996816.3:p.(His2706Tyr)	NC_000001.10:g.216061875G>A	VUS	1 lab	387a18e7ca
12:57908753 MARS1 C>T	12	57908753	57908753	C	T	MARS1	c.2116C>T	NM_004990.4	NP_004981.2:p.(Arg706Cys)	NC_000012.11:g.57908753C>T	(Likely) benign	1 lab	387c075b39
1:155646332 YY1AP1 G>A	1	155646332	155646332	G	A	YY1AP1	c.738+7C>T	NM_001198903.1	NP_001185832.1:p.?	NC_000001.10:g.155646332G>A	(Likely) benign	1 lab	387e9a0148
1:49915182 AGBL4 Ref too long to show for this DEL>G	1	49915182	49988276	Ref too long to show for this DEL	G	AGBL4	c.282+174709_283-203647del	NM_032785.4	NP_116174.3:p.?	NC_000001.10:g.49915183_49988276del	VUS	1 lab	387effb2bf
15:85399650 ALPK3 C>T	15	85399650	85399650	C	T	ALPK3	c.1681C>T	NM_020778.5	NP_065829.4:p.(Pro561Ser)	NC_000015.9:g.85399650C>T	VUS	1 lab	387f641727
11:71148964 DHCR7 CAGA>C	11	71148964	71148972	CAGA	C	DHCR7	c.854_856del	NM_001360.3	NP_001351.2:p.(Phe285del)	NC_000011.9:g.71148970_71148972del	(Likely) pathogenic	1 lab	387f8c2abf
10:67829254 CTNNA3 CAT>C	10	67829254	67829256	CAT	C	CTNNA3	c.1978-9_1978-8del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67829255_67829256del	(Likely) benign	1 lab	387faf937c
14:24845584 NFATC4 A>G	14	24845584	24845584	A	G	NFATC4	c.2330A>G	NM_001136022.3	NP_001129494.1:p.(Asp777Gly)	NC_000014.8:g.24845584A>G	VUS	1 lab	38839ea0e0
22:51142381 SHANK3 G>A	22	51142381	51142381	G	A	SHANK3	c.1913+18G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51142381G>A	(Likely) benign	1 lab	3885fb73d3
1:26138295 SELENON G>C	1	26138295	26138295	G	C	SELENON	c.1206G>C	NM_020451.3	NP_065184.2:p.(Glu402Asp)	NC_000001.10:g.26138295G>C	VUS	1 lab	38871ee536
X:70444228 GJB1 G>A	X	70444228	70444228	G	A	GJB1	c.671G>A	NM_000166.6	NP_000157.1:p.(Arg224His)	NC_000023.10:g.70444228G>A	(Likely) benign	1 lab	388c91fb29
2:179447895 TTN T>C	2	179447895	179447895	T	C	TTN	c.65635A>G	NM_001267550.2	NP_001254479.2:p.(Thr21879Ala)	NC_000002.11:g.179447895T>C	VUS	1 lab	388e30f262
16:1005105 LMF1 C>T	16	1005105	1005105	C	T	LMF1	c.-361-439G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005105C>T	(Likely) benign	1 lab	388f69babd
5:178585734 ADAMTS2 G>A	5	178585734	178585734	G	A	ADAMTS2	c.1122C>T	NM_014244.5	NP_055059.2:p.(Ser374=)	NC_000005.9:g.178585734G>A	(Likely) benign	1 lab	3891597ece
9:107587325 ABCA1 G>A	9	107587325	107587325	G	A	ABCA1	c.2543-466C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107587325G>A	(Likely) benign	1 lab	3897920519
8:10470120 RP1L1 T>C	8	10470120	10470120	T	C	RP1L1	c.1488A>G	NM_178857.6	NP_849188.4:p.(Gly496=)	NC_000008.10:g.10470120T>C	(Likely) benign	1 lab	3897a497d9
6:7585230 DSP G>A	6	7585230	7585230	G	A	DSP	c.7735G>A	NM_004415.4	NP_004406.2:p.(Asp2579Asn)	NC_000006.11:g.7585230G>A	VUS	1 lab	3897ca6275
2:216223950 FN1 Ref too long to show for this DEL>G	2	216223950	216257265	Ref too long to show for this DEL	G	FN1				NC_000002.11:g.216223951_216257265del	VUS	1 lab	3898033e58
3:37778481 ITGA9 G>C	3	37778481	37778481	G	C	ITGA9	c.2234+7G>C	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37778481G>C	(Likely) benign	1 lab	389806d3bb
9:107593983 ABCA1 G>A	9	107593983	107593983	G	A	ABCA1	c.1635C>T	NM_005502.4	NP_005493.2:p.(Ser545=)	NC_000009.11:g.107593983G>A	(Likely) benign	1 lab	3898c557f5
16:15820863 MYH11 C>T	16	15820863	15820863	C	T	MYH11	c.3721G>A	NM_001040113.2	NP_001035202.1:p.(Ala1241Thr)	NC_000016.9:g.15820863C>T	(Likely) benign	1 lab	389bf8ffcb
13:32814024 FRY C>CT	13	32814024	32814035	C	CT	FRY	c.6687+17dup	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32814035dup	(Likely) benign	1 lab	389d95603c
11:116661706 APOA5 C>G	11	116661706	116661706	C	G	APOA5	c.239G>C	NM_052968.5	NP_443200.2:p.(Ser80Thr)	NC_000011.9:g.116661706C>G	VUS	1 lab	389da38a5b
1:55529215 PCSK9 C>A	1	55529215	55529215	C	A	PCSK9	c.2037C>A	NM_174936.4	NP_777596.2:p.(Cys679Ter)	NC_000001.10:g.55529215C>A	(Likely) pathogenic	1 lab	389f6a3794
12:122260547 SETD1B C>T	12	122260547	122260547	C	T	SETD1B	c.4062C>T	NM_001353345.2	NP_001340274.1:p.(Pro1354=)	NC_000012.11:g.122260547C>T	(Likely) benign	1 lab	38a1d14e97
2:179581891 TTN C>T	2	179581891	179581891	C	T	TTN	c.21838G>A	NM_133378.4	NP_596869.4:p.(Gly7280Arg)	NC_000002.11:g.179581891C>T	VUS	1 lab	38a3510a7f
1:66074420 LEPR T>C	1	66074420	66074420	T	C	LEPR	c.1604-16T>C	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66074420T>C	(Likely) benign	1 lab	38a43af49b
4:158281124 GRIA2 C>T	4	158281124	158281124	C	T	GRIA2	c.2120C>T	NM_001083619.3	NP_001077088.2:p.(Thr707Met)	NC_000004.11:g.158281124C>T	VUS	1 lab	38a47e1937
3:98307630 CPOX C>T	3	98307630	98307630	C	T	CPOX	c.880G>A	NM_000097.7	NP_000088.3:p.(Val294Ile)	NC_000003.11:g.98307630C>T	(Likely) benign	1 lab	38aa087c43
22:42523636 CYP2D6 C>A	22	42523636	42523636	C	A	CYP2D6	c.986G>T	NM_000106.6	NP_000097.3:p.(Arg329Leu)	NC_000022.10:g.42523636C>A	(Likely) benign	1 lab	38ac49b0d4
15:66996398 SMAD6 C>T	15	66996398	66996398	C	T	SMAD6	c.802C>T	NM_005585.5	NP_005576.3:p.(Arg268Trp)	NC_000015.9:g.66996398C>T	VUS	1 lab	38add9e528
16:77327102 ADAMTS18 G>C	16	77327102	77327102	G	C	ADAMTS18	c.3060C>G	NM_199355.4	NP_955387.1:p.(Gly1020=)	NC_000016.9:g.77327102G>C	(Likely) benign	1 lab	38b0252129
3:46901047 MYL3 G>A	3	46901047	46901047	G	A	MYL3	c.399C>T	NM_000258.3	NP_000249.1:p.(Phe133=)	NC_000003.11:g.46901047G>A	(Likely) benign	1 lab	38b583d426
12:58220872 CTDSP2 C>T	12	58220872	58220872	C	T	CTDSP2	c.261G>A	NM_005730.4	NP_005721.3:p.(Gly87=)	NC_000012.11:g.58220872C>T	(Likely) benign	1 lab	38b58e63ba
10:74773975 P4HA1 G>A	10	74773975	74773975	G	A	P4HA1	c.1368+7C>T	NM_000917.4	NP_000908.2:p.?	NC_000010.10:g.74773975G>A	(Likely) benign	1 lab	38b775262b
6:56472919 DST T>C	6	56472919	56472919	T	C	DST	c.6507A>G	NM_001374736.1	NP_001361665.1:p.(Gln2169=)	NC_000006.11:g.56472919T>C	(Likely) benign	1 lab	38b813b584
22:38369774 SOX10 G>A	22	38369774	38369774	G	A	SOX10	c.1129C>T	NM_006941.4	NP_008872.1:p.(Gln377Ter)	NC_000022.10:g.38369774G>A	(Likely) pathogenic	1 lab	38b88a83e8
10:64573164 EGR2 C>T	10	64573164	64573164	C	T	EGR2	c.1234G>A	NM_000399.5	NP_000390.2:p.(Glu412Lys)	NC_000010.10:g.64573164C>T	(Likely) pathogenic	1 lab	38bc9fcdee
10:79785929 POLR3A G>A	10	79785929	79785929	G	A	POLR3A	c.103C>T	NM_007055.4	NP_008986.2:p.(Gln35Ter)	NC_000010.10:g.79785929G>A	(Likely) pathogenic	1 lab	38be055596
X:70444035 GJB1 T>C	X	70444035	70444035	T	C	GJB1	c.478T>C	NM_000166.6	NP_000157.1:p.(Tyr160His)	NC_000023.10:g.70444035T>C	(Likely) pathogenic	1 lab	38bf2b5aaf
5:138160414 CTNNA1 A>C	5	138160414	138160414	A	C	CTNNA1	c.784A>C	NM_001903.5	NP_001894.2:p.(Thr262Pro)	NC_000005.9:g.138160414A>C	VUS	1 lab	38c040aae6
18:28739495 DSC1 C>CAA	18	28739495	28739508	C	CAA	DSC1	c.64-5_64-4dup	NM_004948.3	NP_004939.1:p.?	NC_000018.9:g.28739507_28739508dup	(Likely) benign	1 lab	38c2cf43e2
19:11211017 LDLR G>A	19	11211017	11211017	G	A	LDLR	c.186G>A	NM_000527.5	NP_000518.1:p.(Thr62=)	NC_000019.9:g.11211017G>A	(Likely) benign	1 lab	38c8cc9ff0
10:3823244 KLF6 Ref too long to show for this DEL>A	10	3823244	3830427	Ref too long to show for this DEL	A	KLF6				NC_000010.10:g.3823246_3830427del	VUS	1 lab	38cb097cb4
8:144295190 GPIHBP1 G>T	8	144295190	144295190	G	T	GPIHBP1	c.48G>T	NM_178172.6	NP_835466.2:p.(Arg16=)	NC_000008.10:g.144295190G>T	VUS	1 lab	38cbeb5e00
11:17547994 USH1C A>G	11	17547994	17547994	A	G	USH1C	c.580-6T>C	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17547994A>G	(Likely) benign	1 lab	38cd1f968d
16:1004958 LMF1 C>CACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTG	16	1004958	1004959	C	CACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTG	LMF1	c.-361-293_-361-292insCACAGACCCCGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTCGCTTAGATGTGTGTGT	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004958_1004959insACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTG	(Likely) benign	1 lab	38cd4fbfe8
9:107562783 ABCA1 C>T	9	107562783	107562783	C	T	ABCA1	c.4773+8G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562783C>T	(Likely) benign	1 lab	38cf03545d
16:961485 LMF1 T>C	16	961485	961485	T	C	LMF1	c.116-406A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.961485T>C	(Likely) benign	1 lab	38d24fe9cc
5:90001320 ADGRV1 T>C	5	90001320	90001320	T	C	ADGRV1	c.8490T>C	NM_032119.4	NP_115495.3:p.(Leu2830=)	NC_000005.9:g.90001320T>C	(Likely) benign	1 lab	38d2a37bc1
2:182414348 CERKL G>A	2	182414348	182414348	G	A	CERKL	c.973+13C>T	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182414348G>A	(Likely) benign	1 lab	38d3b694f7
1:21890616 ALPL C>T	1	21890616	21890616	C	T	ALPL	c.555C>T	NM_000478.6	NP_000469.3:p.(Asp185=)	NC_000001.10:g.21890616C>T	(Likely) benign	1 lab	38d5f6d41a
8:1900903 ARHGEF10 G>T	8	1900903	1900903	G	T	ARHGEF10	c.3430G>T	NM_014629.4	NP_055444.2:p.(Val1144Phe)	NC_000008.10:g.1900903G>T	(Likely) benign	1 lab	38de523b49
7:128414684 OPN1SW G>A	7	128414684	128414684	G	A	OPN1SW	c.546C>T	NM_001385125.1	NP_001372054.1:p.(Gly182=)	NC_000007.13:g.128414684G>A	(Likely) benign	1 lab	38de88711a
6:56485186 DST G>A	6	56485186	56485186	G	A	DST	c.3646C>T	NM_001723.7	NP_001714.1:p.(Arg1216Trp)	NC_000006.11:g.56485186G>A	VUS	1 lab	38e5f71684
3:189713234 P3H2 A>G	3	189713234	189713234	A	G	P3H2	c.481-3T>C	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189713234A>G	(Likely) benign	1 lab	38e7046606
2:106853304 MISSING Ref too long to show for this DEL>T	2	106853304	108540692	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.106853305_108540692del	VUS	1 lab	38ec00865e
2:128400583 LIMS2 G>A	2	128400583	128400583	G	A	LIMS2	c.409C>T	NM_001161404.2	NP_001154876.1:p.(Arg137Trp)	NC_000002.11:g.128400583G>A	VUS	1 lab	38ec448c06
4:108948850 HADH C>A	4	108948850	108948850	C	A	HADH	c.643C>A	NM_005327.7	NP_005318.6:p.(Pro215Thr)	NC_000004.11:g.108948850C>A	(Likely) benign	1 lab	38ec8d1382
19:15285160 NOTCH3 G>A	19	15285160	15285160	G	A	NOTCH3	c.4455C>T	NM_000435.3	NP_000426.2:p.(Asp1485=)	NC_000019.9:g.15285160G>A	(Likely) benign	1 lab	38f07f71da
15:90173741 KIF7 G>A	15	90173741	90173741	G	A	KIF7	c.3112-17C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90173741G>A	(Likely) benign	1 lab	38f096d426
1:196642206 CFH C>T	1	196642206	196642206	C	T	CFH	c.157C>T	NM_000186.4	NP_000177.2:p.(Arg53Cys)	NC_000001.10:g.196642206C>T	(Likely) pathogenic	1 lab	38f0f9bf74
1:63069830 ANGPTL3 G>A	1	63069830	63069830	G	A	ANGPTL3	c.1122G>A	NM_014495.4	NP_055310.1:p.(Pro374=)	NC_000001.10:g.63069830G>A	(Likely) benign	1 lab	38f159b673
22:51135986 SHANK3 T>C	22	51135986	51135986	T	C	SHANK3	c.1568=	NM_001372044.2	NP_001358973.1:p.(Pro523=)	NC_000022.10:g.51135986T>C	(Likely) benign	1 lab	38f2363c6f
19:11215927 LDLR C>G	19	11215927	11215927	C	G	LDLR	c.345C>G	NM_000527.5	NP_000518.1:p.(Arg115=)	NC_000019.9:g.11215927C>G	(Likely) benign	1 lab	38f3fa5ec4
6:7574078 DSP A>G	6	7574078	7574078	A	G	DSP	c.2131-241A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574078A>G	(Likely) benign	1 lab	38f485015f
18:58038999 MC4R A>G	18	58038999	58038999	A	G	MC4R	c.584T>C	NM_005912.3	NP_005903.2:p.(Ile195Thr)	NC_000018.9:g.58038999A>G	VUS	1 lab	38f671d498
14:105179602 INF2 C>T	14	105179602	105179602	C	T	INF2	c.2834C>T	NM_022489.4	NP_071934.3:p.(Ala945Val)	NC_000014.8:g.105179602C>T	VUS	1 lab	38fb1e50c4
2:179421694 TTN-AS1 A>G	2	179421694	179421694	A	G	TTN-AS1	n.2043+14606A>G	NR_038272.1		NC_000002.11:g.179421694A>G	(Likely) benign	1 lab	38fb42e72c
11:11941693 MISSING T>Alt too long to show for this DUP	11	11941693	12004460	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.11941695_12004460dup	VUS	1 lab	3900f734cd
6:112476147 LAMA4 C>T	6	112476147	112476147	C	T	LAMA4	c.1962G>A	NM_001105206.3	NP_001098676.2:p.(Ala654=)	NC_000006.11:g.112476147C>T	(Likely) benign	1 lab	39016594ce
12:50498363 GPD1 A>T	12	50498363	50498363	A	T	GPD1	c.48A>T	NM_005276.4	NP_005267.2:p.(Ser16=)	NC_000012.11:g.50498363A>T	(Likely) benign	1 lab	39029b00f5
2:109365535 RANBP2 A>C	2	109365535	109365535	A	C	RANBP2	c.1223A>C	NM_006267.5	NP_006258.3:p.(Asn408Thr)	NC_000002.11:g.109365535A>C	VUS	1 lab	3902a73773
15:22770417 MISSING T>Alt too long to show for this DUP	15	22770417	23290819	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23290819dup	(Likely) pathogenic	1 lab	3905308927
8:87638297 CNGB3 A>T	8	87638297	87638297	A	T	CNGB3	c.1492T>A	NM_019098.5	NP_061971.3:p.(Leu498Met)	NC_000008.10:g.87638297A>T	(Likely) benign	1 lab	3909c43610
16:88498312 ZNF469 C>T	16	88498312	88498312	C	T	ZNF469	c.4434C>T	NM_001367624.2	NP_001354553.1:p.(Ser1478=)	NC_000016.9:g.88498312C>T	(Likely) benign	1 lab	390badea72
7:111497644 DOCK4 Ref too long to show for this DEL>C	7	111497644	111673976	Ref too long to show for this DEL	C	DOCK4	c.38-29790_2473+5783del	NM_001363540.2	NP_001350469.1:p.?	NC_000007.13:g.111497645_111673976del	VUS	1 lab	390c5f3e8d
8:19805775 LPL C>G	8	19805775	19805775	C	G	LPL	c.173C>G	NM_000237.3	NP_000228.1:p.(Pro58Arg)	NC_000008.10:g.19805775C>G	VUS	1 lab	390d4ca92e
9:139404592 NOTCH1 C>G	9	139404592	139404592	C	G	NOTCH1	c.2741-179G>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139404592C>G	(Likely) benign	1 lab	390fc702dd
19:47259214 FKRP G>C	19	47259214	47259214	G	C	FKRP	c.507G>C	NM_001039885.3	NP_001034974.1:p.(Leu169=)	NC_000019.9:g.47259214G>C	(Likely) benign	1 lab	3917ce6ec8
11:116661568 APOA5 C>T	11	116661568	116661568	C	T	APOA5	c.377G>A	NM_052968.5	NP_443200.2:p.(Arg126Gln)	NC_000011.9:g.116661568C>T	(Likely) pathogenic	1 lab	391859fc36
16:943076 LMF1 C>T	16	943076	943076	C	T	LMF1	c.664-4G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.943076C>T	(Likely) benign	1 lab	3918844ee1
2:47184066 TTC7A G>T	2	47184066	47184066	G	T	TTC7A	c.335G>T	NM_001288953.2	NP_001275882.1:p.(Arg112Leu)	NC_000002.11:g.47184066G>T	(Likely) benign	1 lab	391a5c6aa7
10:100193769 HPS1 G>A	10	100193769	100193769	G	A	HPS1	c.478C>T	NM_000195.5	NP_000186.2:p.(Arg160Trp)	NC_000010.10:g.100193769G>A	(Likely) benign	1 lab	391c4cbadd
14:23874470 MYH6 AAGATG>A	14	23874470	23874475	AAGATG	A	MYH6	c.459_463del	NM_002471.4	NP_002462.2:p.(Ile154LeufsTer48)	NC_000014.8:g.23874471_23874475del	(Likely) benign	1 lab	391e85c9dc
11:47356937 MYBPC3 GGC>G	11	47356937	47356939	GGC	G	MYBPC3	c.2738-179_2738-178del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356938_47356939del	(Likely) benign	1 lab	391e8921ce
16:942747 LMF1 C>T	16	942747	942747	C	T	LMF1	c.330+260G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942747C>T	(Likely) benign	1 lab	3920dfceb8
12:8995924 A2ML1 AAG>A	12	8995924	8995926	AAG	A	A2ML1	c.1444_1445del	NM_144670.6	NP_653271.3:p.(Ser482ProfsTer2)	NC_000012.11:g.8995925_8995926del	(Likely) benign	1 lab	3924b16b40
8:39299032 MISSING Ref too long to show for this DEL>A	8	39299032	39361676	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.39299033_39361676del	(Likely) benign	1 lab	3925dcc641
6:88239266 RARS2 T>C	6	88239266	88239266	T	C	RARS2	c.872A>G	NM_020320.5	NP_064716.2:p.(Lys291Arg)	NC_000006.11:g.88239266T>C	(Likely) benign	1 lab	392848da1e
5:96383751 MISSING Ref too long to show for this DEL>C	5	96383751	96442364	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.96383752_96442364del	VUS	1 lab	392cf40394
9:134073345 NUP214 C>T	9	134073345	134073345	C	T	NUP214	c.4464C>T	NM_005085.4	NP_005076.3:p.(Ser1488=)	NC_000009.11:g.134073345C>T	VUS	1 lab	392db8095d
1:55512338 PCSK9 C>T	1	55512338	55512338	C	T	PCSK9	c.523+19C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512338C>T	(Likely) benign	1 lab	392e1e1fc4
12:80866752 PTPRQ Ref too long to show for this DEL>T	12	80866752	80884888	Ref too long to show for this DEL	T	PTPRQ	c.1186+723_1360-2166del	NM_001145026.2	NP_001138498.1:p.?	NC_000012.11:g.80866753_80884888del	VUS	1 lab	392ff3fc8f
19:55285027 KIR2DL1 A>C	19	55285027	55285027	A	C	KIR2DL1	c.313A>C	NM_014218.3	NP_055033.2:p.(Thr105Pro)	NC_000019.9:g.55285027A>C	(Likely) benign	1 lab	3931236084
17:36485532 GPR179 C>T	17	36485532	36485532	C	T	GPR179	c.3920G>A	NM_001004334.4	NP_001004334.3:p.(Arg1307Gln)	NC_000017.10:g.36485532C>T	(Likely) benign	1 lab	393299bc96
1:55524651 PCSK9 A>G	1	55524651	55524651	A	G	PCSK9	c.1503+331A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524651A>G	(Likely) benign	1 lab	3934a86e9a
8:87591428 CNGB3 C>A	8	87591428	87591428	C	A	CNGB3	c.1834G>T	NM_019098.5	NP_061971.3:p.(Gly612Trp)	NC_000008.10:g.87591428C>A	VUS	1 lab	3935fe9549
3:81810677 GBE1 G>T	3	81810677	81810677	G	T	GBE1	c.-9C>A	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81810677G>T	(Likely) benign	1 lab	3938e15dfe
11:17417504 ABCC8 A>G	11	17417504	17417504	A	G	ABCC8	c.4123-27T>C	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17417504A>G	(Likely) benign	1 lab	39390041ec
20:2384045 TGM6 A>G	20	2384045	2384045	A	G	TGM6	c.992A>G	NM_198994.3	NP_945345.2:p.(Asn331Ser)	NC_000020.10:g.2384045A>G	VUS	1 lab	3939b3ec9f
8:134292502 NDRG1 G>A	8	134292502	134292502	G	A	NDRG1	c.72C>T	NM_001135242.2	NP_001128714.1:p.(Thr24=)	NC_000008.10:g.134292502G>A	(Likely) benign	1 lab	393cdc084d
7:154561258 DPP6 G>T	7	154561258	154561258	G	T	DPP6	c.1015G>T	NM_130797.4	NP_570629.2:p.(Val339Leu)	NC_000007.13:g.154561258G>T	(Likely) benign	1 lab	393d03835f
19:50333985 MED25 C>G	19	50333985	50333985	C	G	MED25	c.942C>G	NM_030973.4	NP_112235.2:p.(Pro314=)	NC_000019.9:g.50333985C>G	(Likely) benign	1 lab	393e7ec189
9:2115938 SMARCA2 G>C	9	2115938	2115938	G	C	SMARCA2	c.3573G>C	NM_003070.5	NP_003061.3:p.(Lys1191Asn)	NC_000009.11:g.2115938G>C	(Likely) pathogenic	1 lab	393e8e74fb
12:971274 WNK1 G>A	12	971274	971274	G	A	WNK1	c.1977G>A	NM_001184985.2	NP_001171914.1:p.(Gln659=)	NC_000012.11:g.971274G>A	(Likely) benign	1 lab	393ea4e56c
22:50895111 SBF1 G>A	22	50895111	50895111	G	A	SBF1	c.3905-9C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50895111G>A	(Likely) benign	1 lab	393ec39714
2:8952555 KIDINS220 T>C	2	8952555	8952555	T	C	KIDINS220	c.474A>G	NM_020738.4	NP_065789.1:p.(Gln158=)	NC_000002.11:g.8952555T>C	VUS	1 lab	395637a6ff
2:21230741 APOB C>T	2	21230741	21230741	C	T	APOB	c.8999G>A	NM_000384.3	NP_000375.3:p.(Ser3000Asn)	NC_000002.11:g.21230741C>T	VUS	1 lab	3943886602
2:170038793 LRP2 G>C	2	170038793	170038793	G	C	LRP2	c.9882C>G	NM_004525.3	NP_004516.2:p.(Leu3294=)	NC_000002.11:g.170038793G>C	(Likely) benign	1 lab	39473a1057
17:19512666 MISSING A>Alt too long to show for this DUP	17	19512666	19674297	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19512668_19674297dup	VUS	1 lab	394b30aa97
2:21239863 APOB AAAT>A	2	21239863	21239868	AAAT	A	APOB	c.3122-345_3122-343del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239866_21239868del	(Likely) benign	1 lab	394c1c2448
X:106888392 PRPS1 C>T	X	106888392	106888392	C	T	PRPS1	c.531-15C>T	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106888392C>T	(Likely) benign	1 lab	394e5e86b4
19:11241983 LDLR C>T	19	11241983	11241983	C	T	LDLR	c.2574C>T	NM_000527.5	NP_000518.1:p.(Asp858=)	NC_000019.9:g.11241983C>T	(Likely) benign	1 lab	394ecade10
3:71037144 FOXP1 C>T	3	71037144	71037144	C	T	FOXP1	c.1146+1G>A	NM_032682.6	NP_116071.2:p.?	NC_000003.11:g.71037144C>T	(Likely) pathogenic	1 lab	394f77b4b7
2:167133482 SCN9A T>TAA	2	167133482	167133483	T	TAA	SCN9A	c.2841+10_2841+11insTT	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133482_167133483insAA	(Likely) benign	1 lab	3952da22e3
2:179466134 TTN A>G	2	179466134	179466134	A	G	TTN	c.47886T>C	NM_133378.4	NP_596869.4:p.(Asn15962=)	NC_000002.11:g.179466134A>G	(Likely) benign	1 lab	395519c9a7
X:15870522 AP1S2 T>A	X	15870522	15870522	T	A	AP1S2	c.126A>T	NM_001369008.1	NP_001355937.1:p.(Lys42Asn)	NC_000023.10:g.15870522T>A	VUS	1 lab	395a0c5264
10:90987458 LIPA C>T	10	90987458	90987458	C	T	LIPA	c.428+499G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90987458C>T	(Likely) benign	1 lab	395b4d7d6a
19:11233790 LDLR C>T	19	11233790	11233790	C	T	LDLR	c.2141-60C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233790C>T	(Likely) benign	1 lab	395df9e664
1:55518362 PCSK9 G>T	1	55518362	55518362	G	T	PCSK9	c.697G>T	NM_174936.4	NP_777596.2:p.(Val233Leu)	NC_000001.10:g.55518362G>T	VUS	1 lab	395f562f12
18:47088747 LIPG A>C	18	47088747	47088747	A	C	LIPG	c.69A>C	NM_006033.4	NP_006024.1:p.(Val23=)	NC_000018.9:g.47088747A>C	(Likely) benign	1 lab	396020469e
11:47365456 MYBPC3 C>T	11	47365456	47365456	C	T	MYBPC3	c.1091-281G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365456C>T	(Likely) benign	1 lab	3964c32aba
8:100847810 VPS13B G>A	8	100847810	100847810	G	A	VPS13B	c.9861G>A	NM_017890.5	NP_060360.3:p.(Glu3287=)	NC_000008.10:g.100847810G>A	(Likely) benign	1 lab	39685e1f2d
4:56930589 CRACD Ref too long to show for this DEL>T	4	56930589	57067945	Ref too long to show for this DEL	T	CRACD	c.-336+15125_-189+22349del	NM_001393381.1	NP_001380310.1:p.?	NC_000004.11:g.56930590_57067945del	VUS	1 lab	396af705b4
1:237777978 RYR2 G>A	1	237777978	237777978	G	A	RYR2	c.5550G>A	NM_001035.3	NP_001026.2:p.(Val1850=)	NC_000001.10:g.237777978G>A	(Likely) benign	1 lab	396dad5ae5
11:47357809 MYBPC3 T>C	11	47357809	47357809	T	C	MYBPC3	c.2603-247A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357809T>C	(Likely) benign	1 lab	396dd6d737
11:40329192 LRRC4C Ref too long to show for this DEL>C	11	40329192	40696520	Ref too long to show for this DEL	C	LRRC4C	c.-406-26686_-176+11985del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40329199_40696520del	VUS	1 lab	397066c76d
12:48389099 COL2A1 C>A	12	48389099	48389099	C	A	COL2A1	c.709-8G>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389099C>A	(Likely) benign	1 lab	3970e99ee4
12:50501543 GPD1 G>A	12	50501543	50501543	G	A	GPD1	c.806G>A	NM_005276.4	NP_005267.2:p.(Arg269Gln)	NC_000012.11:g.50501543G>A	(Likely) pathogenic	1 lab	3972a0a692
9:137676927 COL5A1 A>AC	9	137676927	137676932	A	AC	COL5A1	c.2582dup	NM_000093.5	NP_000084.3:p.(Gly862TrpfsTer59)	NC_000009.11:g.137676932dup	(Likely) pathogenic	1 lab	3973cc8693
X:70444382 GJB1 A>G	X	70444382	70444382	A	G	GJB1	c.825A>G	NM_000166.6	NP_000157.1:p.(Glu275=)	NC_000023.10:g.70444382A>G	(Likely) benign	1 lab	39752c302e
6:112508717 LAMA4 C>T	6	112508717	112508717	C	T	LAMA4	c.901G>A	NM_001105206.3	NP_001098676.2:p.(Val301Ile)	NC_000006.11:g.112508717C>T	VUS	1 lab	397589ee55
2:179401141 TTN C>T	2	179401141	179401141	C	T	TTN	c.100333G>A	NM_001267550.2	NP_001254479.2:p.(Glu33445Lys)	NC_000002.11:g.179401141C>T	VUS	1 lab	3978344595
16:89857880 FANCA C>T	16	89857880	89857880	C	T	FANCA	c.1290G>A	NM_000135.4	NP_000126.2:p.(Ala430=)	NC_000016.9:g.89857880C>T	(Likely) benign	1 lab	397ffe6844
12:132445256 EP400 A>C	12	132445256	132445256	A	C	EP400	c.92A>C	NM_015409.5	NP_056224.3:p.(His31Pro)	NC_000012.11:g.132445256A>C	(Likely) benign	1 lab	39802aacac
5:74009383 HEXB TTGAA>T	5	74009383	74009388	TTGAA	T	HEXB	c.151_154del	NM_001292004.2	NP_001278933.1:p.(Glu51MetfsTer30)	NC_000005.9:g.74009385_74009388del	(Likely) pathogenic	1 lab	3980985760
1:21890585 ALPL G>C	1	21890585	21890585	G	C	ALPL	c.524G>C	NM_000478.6	NP_000469.3:p.(Ser175Thr)	NC_000001.10:g.21890585G>C	VUS	1 lab	3980a5947e
15:48787959 FBN1 C>CTAG	15	48787959	48787964	C	CTAG	FBN1	c.2420-177_2420-175dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48787962_48787964dup	(Likely) benign	1 lab	3980c557a9
16:83933193 MLYCD C>T	16	83933193	83933193	C	T	MLYCD	c.444C>T	NM_012213.3	NP_036345.2:p.(Asp148=)	NC_000016.9:g.83933193C>T	(Likely) benign	1 lab	3983615932
7:138591672 KIAA1549 G>A	7	138591672	138591672	G	A	KIAA1549	c.3453C>T	NM_001164665.2	NP_001158137.1:p.(Ile1151=)	NC_000007.13:g.138591672G>A	(Likely) benign	1 lab	3983e14de2
X:48991038 MISSING Ref too long to show for this DEL>A	X	48991038	49020890	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.48991040_49020890del	VUS	1 lab	398c771ed8
2:179527673 TTN C>G	2	179527673	179527673	C	G	TTN	c.36790+20G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527673C>G	(Likely) benign	1 lab	398c95c756
6:46130665 MISSING G>Alt too long to show for this DUP	6	46130665	46208470	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.46130666_46208470dup	VUS	1 lab	3992cedd18
16:28810324 MISSING Ref too long to show for this DEL>G	16	28810324	29051191	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28810325_29051191del	(Likely) pathogenic	1 lab	399616db00
11:64525918 PYGM G>A	11	64525918	64525918	G	A	PYGM	c.415C>T	NM_005609.4	NP_005600.1:p.(Arg139Trp)	NC_000011.9:g.64525918G>A	(Likely) pathogenic	1 lab	3998dfd6e3
17:73026739 MISSING A>Alt too long to show for this DUP	17	73026739	73325194	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.73026740_73325194dup	VUS	1 lab	39b2b32db2
1:161137920 PPOX G>A	1	161137920	161137920	G	A	PPOX	c.471+3G>A	NM_001122764.3	NP_001116236.1:p.?	NC_000001.10:g.161137920G>A	(Likely) benign	1 lab	399b573f4e
18:58039370 MC4R C>A	18	58039370	58039370	C	A	MC4R	c.213G>T	NM_005912.3	NP_005903.2:p.(Lys71Asn)	NC_000018.9:g.58039370C>A	VUS	1 lab	399dfe07b6
8:87680407 CNGB3 A>AG	8	87680407	87680408	A	AG	CNGB3	c.494-12_494-11insC	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87680407_87680408insG	(Likely) benign	1 lab	399e0df740
13:111160444 COL4A2 A>G	13	111160444	111160444	A	G	COL4A2	c.4757A>G	NM_001846.4	NP_001837.2:p.(Tyr1586Cys)	NC_000013.10:g.111160444A>G	VUS	1 lab	39a19bc0cc
1:94506924 ABCA4 G>A	1	94506924	94506924	G	A	ABCA4	c.3363C>T	NM_000350.3	NP_000341.2:p.(Asp1121=)	NC_000001.10:g.94506924G>A	(Likely) benign	1 lab	39a3d76e2a
7:151573710 PRKAG2 C>G	7	151573710	151573710	C	G	PRKAG2	c.-5G>C	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151573710C>G	(Likely) benign	1 lab	39a3e69f31
17:26727715 SLC46A1 G>C	17	26727715	26727715	G	C	SLC46A1	c.1233C>G	NM_080669.6	NP_542400.2:p.(Asn411Lys)	NC_000017.10:g.26727715G>C	(Likely) pathogenic	1 lab	39a76c496d
15:45388079 DUOX2 G>A	15	45388079	45388079	G	A	DUOX2	c.4027C>T	NM_001363711.2	NP_001350640.1:p.(Leu1343Phe)	NC_000015.9:g.45388079G>A	VUS	1 lab	39a79fed57
6:43581902 POLH C>T	6	43581902	43581902	C	T	POLH	c.1750C>T	NM_006502.3	NP_006493.1:p.(Leu584=)	NC_000006.11:g.43581902C>T	(Likely) benign	1 lab	39a817df9a
12:5154810 KCNA5 G>A	12	5154810	5154810	G	A	KCNA5	c.1497G>A	NM_002234.4	NP_002225.2:p.(Leu499=)	NC_000012.11:g.5154810G>A	(Likely) benign	1 lab	39ab900e40
11:89011766 TYR G>GTAAA	11	89011766	89011772	G	GTAAA	TYR	c.1185-6172_1185-6169dup	NM_000372.5	NP_000363.1:p.?	NC_000011.9:g.89011769_89011772dup	(Likely) benign	1 lab	39ac9ab659
12:2715841 CACNA1C T>C	12	2715841	2715841	T	C	CACNA1C	c.3269+12T>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2715841T>C	(Likely) benign	1 lab	39ad829aee
17:41209134 BRCA1 C>T	17	41209134	41209134	C	T	BRCA1	c.5212G>A	NM_007294.4	NP_009225.1:p.(Gly1738Arg)	NC_000017.10:g.41209134C>T	(Likely) pathogenic	1 lab	39b4160302
1:103405865 COL11A1 C>T	1	103405865	103405865	C	T	COL11A1	c.3420+18G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103405865C>T	(Likely) benign	1 lab	39b51ae030
9:107548675 ABCA1 C>T	9	107548675	107548675	C	T	ABCA1	c.6309-4G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548675C>T	(Likely) benign	1 lab	39b5f25d68
7:128482447 FLNC C>T	7	128482447	128482447	C	T	FLNC	c.2265+19C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482447C>T	(Likely) benign	1 lab	39b881939a
12:2702423 CACNA1C C>T	12	2702423	2702423	C	T	CACNA1C	c.2575C>T	NM_001167623.2	NP_001161095.1:p.(Pro859Ser)	NC_000012.11:g.2702423C>T	(Likely) pathogenic	1 lab	39bde99f5f
17:39927972 JUP C>T	17	39927972	39927972	C	T	JUP	c.135G>A	NM_001352773.2	NP_001339702.1:p.(Glu45=)	NC_000017.10:g.39927972C>T	(Likely) benign	1 lab	39c0aa4ec1
X:135956467 RBMX C>T	X	135956467	135956467	C	T	RBMX	c.1010G>A	NM_002139.4	NP_002130.2:p.(Ser337Asn)	NC_000023.10:g.135956467C>T	(Likely) benign	1 lab	39c2ca0e33
15:31197976 FAN1 C>T	15	31197976	31197976	C	T	FAN1	c.1110C>T	NM_014967.5	NP_055782.3:p.(Thr370=)	NC_000015.9:g.31197976C>T	(Likely) benign	1 lab	39c3b4d254
12:1953556 CACNA2D4 G>A	12	1953556	1953556	G	A	CACNA2D4	c.2470+12C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1953556G>A	(Likely) benign	1 lab	39c5722b1a
1:237863620 RYR2 A>G	1	237863620	237863620	A	G	RYR2	c.9220A>G	NM_001035.3	NP_001026.2:p.(Asn3074Asp)	NC_000001.10:g.237863620A>G	VUS	1 lab	39c79b6171
14:23859551 MYH6 G>A	14	23859551	23859551	G	A	MYH6	c.3447C>T	NM_002471.4	NP_002462.2:p.(Ser1149=)	NC_000014.8:g.23859551G>A	(Likely) benign	1 lab	39c95f082c
5:148406653 SH3TC2 T>C	5	148406653	148406653	T	C	SH3TC2	c.2642A>G	NM_024577.4	NP_078853.2:p.(Asn881Ser)	NC_000005.9:g.148406653T>C	(Likely) pathogenic	1 lab	39c97805fe
11:65310440 LTBP3 G>A	11	65310440	65310440	G	A	LTBP3	c.2596+136C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65310440G>A	(Likely) benign	1 lab	39c9f34837
16:15492116 MISSING Ref too long to show for this DEL>G	16	15492116	18112917	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.15492117_18112917del	VUS	1 lab	39d1497d54
11:47371105 MYBPC3 C>T	11	47371105	47371105	C	T	MYBPC3	c.654+220G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371105C>T	(Likely) benign	1 lab	39d96f887d
19:13414429 CACNA1A T>C	19	13414429	13414429	T	C	CACNA1A	c.2108-2A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13414429T>C	VUS	1 lab	39df1dc37c
10:59986805 IPMK G>A	10	59986805	59986805	G	A	IPMK	c.372C>T	NM_152230.5	NP_689416.1:p.(Asn124=)	NC_000010.10:g.59986805G>A	(Likely) benign	1 lab	39df630338
6:32798482 TAP2 C>T	6	32798482	32798482	C	T	TAP2	c.1374G>A	NM_001290043.2	NP_001276972.1:p.(Thr458=)	NC_000006.11:g.32798482C>T	(Likely) benign	1 lab	39e0ab3650
8:133961011 TG T>C	8	133961011	133961011	T	C	TG	c.5234-10T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133961011T>C	(Likely) benign	1 lab	39e211a449
22:42204918 CCDC134 C>A	22	42204918	42204918	C	A	CCDC134	c.24C>A	NM_024821.5	NP_079097.1:p.(Ala8=)	NC_000022.10:g.42204918C>A	(Likely) benign	1 lab	39e3f1d54a
4:100496116 MTTP C>T	4	100496116	100496116	C	T	MTTP	c.50C>T	NM_000253.4	NP_000244.2:p.(Ala17Val)	NC_000004.11:g.100496116C>T	(Likely) benign	1 lab	39e41d1dad
14:24551859 NRL G>A	14	24551859	24551859	G	A	NRL	c.199C>T	NM_006177.5	NP_006168.1:p.(Pro67Ser)	NC_000014.8:g.24551859G>A	(Likely) benign	1 lab	39e5a036ea
8:145737143 RECQL4 G>A	8	145737143	145737143	G	A	RECQL4	c.3423C>T	NM_004260.4	NP_004251.4:p.(Cys1141=)	NC_000008.10:g.145737143G>A	(Likely) benign	1 lab	39e6beae9b
19:7506958 ARHGEF18 G>A	19	7506958	7506958	G	A	ARHGEF18	c.1360+20G>A	NM_001367823.1	NP_001354752.1:p.?	NC_000019.9:g.7506958G>A	(Likely) benign	1 lab	39e6ffb474
1:44057697 MISSING T>Alt too long to show for this DUP	1	44057697	44105157	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.44057698_44105157dup	VUS	1 lab	39ebc0bda4
6:16140586 MYLIP TA>T	6	16140586	16140588	TA	T	MYLIP	c.279-1268del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16140588del	(Likely) benign	1 lab	39ec92a67e
5:58286746 PDE4D A>G	5	58286746	58286746	A	G	PDE4D	c.421-17T>C	NM_001364604.1	NP_001351533.1:p.?	NC_000005.9:g.58286746A>G	(Likely) benign	1 lab	39f2d51970
19:45411934 APOE G>A	19	45411934	45411934	G	A	APOE	c.459G>A	NM_001302688.2	NP_001289617.1:p.(Glu153=)	NC_000019.9:g.45411934G>A	(Likely) benign	1 lab	39f532a61f
12:20858875 SLCO1C1 C>T	12	20858875	20858875	C	T	SLCO1C1	c.272-8C>T	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20858875C>T	(Likely) benign	1 lab	39f63db32b
2:21250711 APOB C>T	2	21250711	21250711	C	T	APOB	c.2056G>A	NM_000384.3	NP_000375.3:p.(Asp686Asn)	NC_000002.11:g.21250711C>T	(Likely) benign	1 lab	39f6b09f3c
12:133257712 POLE C>T	12	133257712	133257712	C	T	POLE	c.204+12G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133257712C>T	(Likely) benign	1 lab	39f7a997e3
20:2380379 TGM6 G>A	20	2380379	2380379	G	A	TGM6	c.845G>A	NM_198994.3	NP_945345.2:p.(Cys282Tyr)	NC_000020.10:g.2380379G>A	VUS	1 lab	39f8106dba
8:19811901 LPL T>C	8	19811901	19811901	T	C	LPL	c.775+37T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811901T>C	(Likely) benign	1 lab	39fc77cac3
9:113220820 SVEP1 C>T	9	113220820	113220820	C	T	SVEP1	c.3507G>A	NM_153366.4	NP_699197.3:p.(Ala1169=)	NC_000009.11:g.113220820C>T	(Likely) benign	1 lab	39fdf366db
22:19363405 MISSING Ref too long to show for this DEL>A	22	19363405	20112675	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.19363407_20112675del	(Likely) pathogenic	1 lab	39fe2de964
2:179439625 TTN G>T	2	179439625	179439625	G	T	TTN	c.63530C>A	NM_133378.4	NP_596869.4:p.(Thr21177Asn)	NC_000002.11:g.179439625G>T	VUS	1 lab	39fec457c5
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-21_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439791_18439809dup	(Likely) benign	1 lab	39ff644efe
2:167404427 MISSING Ref too long to show for this DEL>T	2	167404427	167817339	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.167404430_167817339del	VUS	1 lab	3a0027f511
X:148623184 MISSING Ref too long to show for this DEL>T	X	148623184	148867701	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.148623186_148867701del	(Likely) pathogenic	1 lab	3a01eac884
12:48369338 COL2A1 A>G	12	48369338	48369338	A	G	COL2A1	c.3648T>C	NM_001844.5	NP_001835.3:p.(Pro1216=)	NC_000012.11:g.48369338A>G	(Likely) benign	1 lab	3a0442184e
19:11213840 LDLR G>A	19	11213840	11213840	G	A	LDLR	c.313+378G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213840G>A	(Likely) benign	1 lab	3a0583d4ab
7:100416180 EPHB4 C>T	7	100416180	100416180	C	T	EPHB4	c.1384G>A	NM_004444.5	NP_004435.3:p.(Gly462Arg)	NC_000007.13:g.100416180C>T	(Likely) benign	1 lab	3a097e9195
2:167141258 SCN9A C>T	2	167141258	167141258	C	T	SCN9A	c.1679G>A	NM_002977.3	NP_002968.1:p.(Arg560Lys)	NC_000002.11:g.167141258C>T	VUS	1 lab	3a09c19f7f
15:59500230 LDHAL6B A>C	15	59500230	59500230	A	C	LDHAL6B	c.1091A>C	NM_033195.3	NP_149972.1:p.(His364Pro)	NC_000015.9:g.59500230A>C	(Likely) benign	1 lab	3a0e146268
3:38655282 SCN5A G>A	3	38655282	38655282	G	A	SCN5A	c.655C>T	NM_198056.3	NP_932173.1:p.(Arg219Cys)	NC_000003.11:g.38655282G>A	(Likely) pathogenic	1 lab	3a0e301231
1:3319456 PRDM16 C>G	1	3319456	3319456	C	G	PRDM16	c.778C>G	NM_022114.4	NP_071397.3:p.(Leu260Val)	NC_000001.10:g.3319456C>G	VUS	1 lab	3a94eb1506
19:11224781 LDLR C>CAAA	19	11224781	11224798	C	CAAA	LDLR	c.1586+358_1586+360dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224796_11224798dup	(Likely) benign	1 lab	3a11f87b53
2:114035934 PAX8 A>G	2	114035934	114035934	A	G	PAX8	c.25+13T>C	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.114035934A>G	(Likely) benign	1 lab	3a15364a8a
11:67257514 AIP G>A	11	67257514	67257514	G	A	AIP	c.474G>A	NM_003977.4	NP_003968.3:p.(Glu158=)	NC_000011.9:g.67257514G>A	(Likely) benign	1 lab	3a16949b9b
4:74275218 ALB G>T	4	74275218	74275218	G	T	ALB	c.615+14G>T	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74275218G>T	(Likely) benign	1 lab	3a16ec234a
16:54318172 IRX3 C>A	16	54318172	54318172	C	A	IRX3	c.1437G>T	NM_024336.3	NP_077312.2:p.(Gln479His)	NC_000016.9:g.54318172C>A	(Likely) benign	1 lab	3a1935ae60
21:45978409 KRTAP10-3 G>A	21	45978409	45978409	G	A	KRTAP10-3	c.190C>T	NM_198696.3	NP_941969.2:p.(Pro64Ser)	NC_000021.8:g.45978409G>A	(Likely) benign	1 lab	3a1bd08c06
9:107555434 ABCA1 T>G	9	107555434	107555434	T	G	ABCA1	c.5636+18A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555434T>G	(Likely) benign	1 lab	3a1c6df3d7
15:31453164 TRPM1 T>C	15	31453164	31453164	T	C	TRPM1	c.-2A>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31453164T>C	(Likely) benign	1 lab	3a1f8879f1
18:77470834 CTDP1 C>T	18	77470834	77470834	C	T	CTDP1	c.863+398C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77470834C>T	(Likely) benign	1 lab	3a20d9823e
20:57466761 GNAS C>CCCGCCGCCG	20	57466761	57466781	C	CCCGCCGCCG	GNAS	c.-9_-1dup	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466773_57466781dup	(Likely) benign	1 lab	3a248fd9f0
6:100054916 PRDM13 C>T	6	100054916	100054916	C	T	PRDM13	c.6C>T	NM_021620.4	NP_067633.2:p.(His2=)	NC_000006.11:g.100054916C>T	(Likely) benign	1 lab	3a258bd153
4:184615117 TRAPPC11 A>C	4	184615117	184615117	A	C	TRAPPC11	c.2434A>C	NM_021942.6	NP_068761.4:p.(Thr812Pro)	NC_000004.11:g.184615117A>C	(Likely) benign	1 lab	3a2ca68ffd
19:52250071 FPR1 G>A	19	52250071	52250071	G	A	FPR1	c.177C>T	NM_002029.4	NP_002020.1:p.(Val59=)	NC_000019.9:g.52250071G>A	(Likely) benign	1 lab	3a2e250e90
7:12269417 TMEM106B C>G	7	12269417	12269417	C	G	TMEM106B	c.554C>G	NM_018374.4	NP_060844.2:p.(Thr185Ser)	NC_000007.13:g.12269417C>G	(Likely) benign	1 lab	3a2ecf7c79
3:123457727 MYLK G>A	3	123457727	123457727	G	A	MYLK	c.588+17C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123457727G>A	(Likely) benign	1 lab	3a2f58f075
X:14548193 GLRA2 T>TAGTG	X	14548193	14548198	T	TAGTG	GLRA2	c.16_19dup	NM_002063.4	NP_002054.1:p.(Asn7SerfsTer26)	NC_000023.10:g.14548195_14548198dup	(Likely) pathogenic	1 lab	3a30a01e28
1:55524219 PCSK9 A>G	1	55524219	55524219	A	G	PCSK9	c.1402A>G	NM_174936.4	NP_777596.2:p.(Thr468Ala)	NC_000001.10:g.55524219A>G	VUS	1 lab	3a30c29d11
17:7755930 KDM6B AC>A	17	7755930	7755934	AC	A	KDM6B	c.4590del	NM_001080424.2	NP_001073893.1:p.(Asp1531ThrfsTer5)	NC_000017.10:g.7755934del	VUS	1 lab	3a338a9ea5
1:236921213 ACTN2 A>G	1	236921213	236921213	A	G	ACTN2	c.2301+281A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236921213A>G	(Likely) benign	1 lab	3a355672c0
17:8192156 RANGRF T>A	17	8192156	8192156	T	A	RANGRF	c.50T>A	NM_001177802.2	NP_001171273.1:p.(Ile17Asn)	NC_000017.10:g.8192156T>A	VUS	1 lab	3a3652b5f0
16:57007282 CETP CT>C	16	57007282	57007283	CT	C	CETP	c.791del	NM_000078.3	NP_000069.2:p.(Leu264ProfsTer30)	NC_000016.9:g.57007283del	(Likely) pathogenic	1 lab	3a3696834f
2:179400406 TTN C>T	2	179400406	179400406	C	T	TTN	c.100936G>A	NM_001267550.2	NP_001254479.2:p.(Val33646Ile)	NC_000002.11:g.179400406C>T	VUS	1 lab	3a3c81532f
2:44065015 ABCG5 A>G	2	44065015	44065015	A	G	ABCG5	c.223T>C	NM_022436.3	NP_071881.1:p.(Tyr75His)	NC_000002.11:g.44065015A>G	VUS	1 lab	3a3e5ec95c
11:5247942 HBB C>T	11	5247942	5247942	C	T	HBB	c.180G>A	NM_000518.5	NP_000509.1:p.(Lys60=)	NC_000011.9:g.5247942C>T	(Likely) benign	1 lab	3a3e708072
2:150673180 MISSING Ref too long to show for this DEL>G	2	150673180	150745971	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.150673181_150745971del	VUS	1 lab	3a3f932d23
1:68910339 RPE65 G>A	1	68910339	68910339	G	A	RPE65	c.370C>T	NM_000329.3	NP_000320.1:p.(Arg124Ter)	NC_000001.10:g.68910339G>A	(Likely) pathogenic	1 lab	3a4183f60d
1:151801951 RORC G>A	1	151801951	151801951	G	A	RORC	c.41-17C>T	NM_005060.4	NP_005051.2:p.?	NC_000001.10:g.151801951G>A	(Likely) benign	1 lab	3a46348d6b
8:62465580 ASPH T>C	8	62465580	62465580	T	C	ASPH	c.1626+10A>G	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62465580T>C	(Likely) benign	1 lab	3a4de34e6b
3:186724561 MISSING C>Alt too long to show for this DUP	3	186724561	187012547	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.186724562_187012547dup	VUS	1 lab	3a516a6785
14:76184203 TTLL5 G>A	14	76184203	76184203	G	A	TTLL5	c.741-1G>A	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76184203G>A	VUS	1 lab	3a51f6695a
2:179563643 TTN TAAA>T	2	179563643	179563658	TAAA	T	TTN	c.30683-5_30683-3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563656_179563658del	(Likely) benign	1 lab	3a524ee057
17:41256132 BRCA1 G>GT	17	41256132	41256136	G	GT	BRCA1	c.441+6dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256136dup	(Likely) benign	1 lab	3a52618cc6
17:9124464 NTN1 TC>T	17	9124464	9124472	TC	T	NTN1	c.1412-13del	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124472del	(Likely) benign	1 lab	3a53756a2e
8:144296964 GPIHBP1 C>G	8	144296964	144296964	C	G	GPIHBP1	c.258C>G	NM_178172.6	NP_835466.2:p.(Gly86=)	NC_000008.10:g.144296964C>G	(Likely) benign	1 lab	3a543ebb5d
9:123808805 C5 Ref too long to show for this DEL>A	9	123808805	123810883	Ref too long to show for this DEL	A	C5	c.65+1578_66-145del	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123808807_123810883del	VUS	1 lab	3a550a3cbd
X:7918961 MISSING T>Alt too long to show for this DUP	X	7918961	8760719	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.7918962_8760719dup	VUS	1 lab	3c14d3a00e
1:237664047 RYR2 A>G	1	237664047	237664047	A	G	RYR2	c.2240A>G	NM_001035.3	NP_001026.2:p.(His747Arg)	NC_000001.10:g.237664047A>G	VUS	1 lab	3a55caefbb
1:237586436 RYR2 G>A	1	237586436	237586436	G	A	RYR2	c.893G>A	NM_001035.3	NP_001026.2:p.(Arg298His)	NC_000001.10:g.237586436G>A	VUS	1 lab	3a5a8630ff
X:105281028 SERPINA7 C>A	X	105281028	105281028	C	A	SERPINA7	c.22G>T	NM_000354.6	NP_000345.2:p.(Val8Phe)	NC_000023.10:g.105281028C>A	(Likely) benign	1 lab	3a5eafa527
11:9801925 SBF2 T>G	11	9801925	9801925	T	G	SBF2	c.*40A>C	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9801925T>G	(Likely) benign	1 lab	3a5fb75d84
2:21233277 APOB C>A	2	21233277	21233277	C	A	APOB	c.6463G>T	NM_000384.3	NP_000375.3:p.(Asp2155Tyr)	NC_000002.11:g.21233277C>A	VUS	1 lab	3a614d7196
6:107533340 PDSS2 A>C	6	107533340	107533340	A	C	PDSS2	c.849T>G	NM_020381.4	NP_065114.3:p.(Tyr283Ter)	NC_000006.11:g.107533340A>C	(Likely) pathogenic	1 lab	3a61790276
X:8401014 MISSING A>Alt too long to show for this DUP	X	8401014	8588405	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.8401015_8588405dup	VUS	1 lab	3a61b3cb86
6:56473590 DST T>A	6	56473590	56473590	T	A	DST	c.5836A>T	NM_001374736.1	NP_001361665.1:p.(Met1946Leu)	NC_000006.11:g.56473590T>A	(Likely) benign	1 lab	3a61ebaeef
2:179557269 TTN C>A	2	179557269	179557269	C	A	TTN	c.31633G>T	NM_001267550.2	NP_001254479.2:p.(Ala10545Ser)	NC_000002.11:g.179557269C>A	VUS	1 lab	3a6248be08
2:179588603 TTN C>G	2	179588603	179588603	C	G	TTN	c.21383G>C	NM_001267550.2	NP_001254479.2:p.(Arg7128Pro)	NC_000002.11:g.179588603C>G	VUS	1 lab	3a6641bd4f
10:55782799 PCDH15 A>G	10	55782799	55782799	A	G	PCDH15	c.2379T>C	NM_001354429.2	NP_001341358.1:p.(Asp793=)	NC_000010.10:g.55782799A>G	(Likely) benign	1 lab	3a694bce8d
19:11213381 LDLR C>T	19	11213381	11213381	C	T	LDLR	c.232C>T	NM_000527.5	NP_000518.1:p.(Arg78Cys)	NC_000019.9:g.11213381C>T	VUS	1 lab	3a69d0df9b
7:98567837 TRRAP G>A	7	98567837	98567837	G	A	TRRAP	c.7540G>A	NM_003496.4	NP_003487.1:p.(Asp2514Asn)	NC_000007.13:g.98567837G>A	(Likely) benign	1 lab	3a69ec3db3
20:33680589 TRPC4AP C>T	20	33680589	33680589	C	T	TRPC4AP	c.-5G>A	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33680589C>T	(Likely) benign	1 lab	3a6c2a7eb5
16:47684686 PHKB TATTA>T	16	47684686	47684693	TATTA	T	PHKB	c.1860-52_1860-49del	NM_001031835.3	NP_001027005.1:p.?	NC_000016.9:g.47684690_47684693del	(Likely) benign	1 lab	3a6c3911d9
17:11672501 DNAH9 G>A	17	11672501	11672501	G	A	DNAH9	c.7407G>A	NM_001372.4	NP_001363.2:p.(Ala2469=)	NC_000017.10:g.11672501G>A	(Likely) benign	1 lab	3a6d5bd4fe
10:18439784 CACNB2 C>CTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTT	CACNB2	c.37-15_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439797_18439809dup	(Likely) benign	1 lab	3a7254a37d
1:151145842 TMOD4 Ref too long to show for this DEL>A	1	151145842	151147355	Ref too long to show for this DEL	A	TMOD4	c.-3_397+132del	NM_013353.3	NP_037485.2:p.?	NC_000001.10:g.151145844_151147355del	VUS	1 lab	3a72b1367d
X:49084727 CACNA1F C>T	X	49084727	49084727	C	T	CACNA1F	c.1000G>A	NM_005183.4	NP_005174.2:p.(Asp334Asn)	NC_000023.10:g.49084727C>T	VUS	1 lab	3a75835eaf
6:56560529 DST Ref too long to show for this DEL>A	6	56560529	56567629	Ref too long to show for this DEL	A	DST	c.876+817_1047+3921del	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56560530_56567629del	VUS	1 lab	3a75ad405b
1:243437961 SDCCAG8 A>G	1	243437961	243437961	A	G	SDCCAG8	c.420+3A>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243437961A>G	(Likely) benign	1 lab	3a7941e67b
17:15688145 MISSING Ref too long to show for this DEL>A	17	15688145	16657320	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.15688147_16657320del	VUS	1 lab	3a7bfab5e7
2:179458677 TTN A>C	2	179458677	179458677	A	C	TTN	c.58432+11T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458677A>C	(Likely) benign	1 lab	3a7bfced96
6:112461990 LAMA4 T>TA	6	112461990	112461994	T	TA	LAMA4	c.2947dup	NM_001105206.3	NP_001098676.2:p.(Tyr983LeufsTer31)	NC_000006.11:g.112461994dup	VUS	1 lab	3a7ccb157c
15:58830512 LIPC T>C	15	58830512	58830512	T	C	LIPC	c.89-20T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58830512T>C	(Likely) benign	1 lab	3a7ddf4c2b
2:219647076 CYP27A1 AGAG>A	2	219647076	219647082	AGAG	A	CYP27A1	c.175_177del	NM_000784.4	NP_000775.1:p.(Glu59del)	NC_000002.11:g.219647080_219647082del	VUS	1 lab	3a80dcc5ab
7:152055766 KMT2C G>A	7	152055766	152055766	G	A	KMT2C	c.162-6C>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152055766G>A	(Likely) benign	1 lab	3a839ed75c
4:155670222 LRAT G>A	4	155670222	155670222	G	A	LRAT	c.627G>A	NM_004744.5	NP_004735.2:p.(Thr209=)	NC_000004.11:g.155670222G>A	(Likely) benign	1 lab	3a83b57509
22:50966733 MISSING Ref too long to show for this DEL>C	22	50966733	51178265	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.50966735_51178265del	(Likely) pathogenic	1 lab	3a83d8959d
1:161276643 MPZ C>G	1	161276643	161276643	C	G	MPZ	c.303G>C	NM_000530.8	NP_000521.2:p.(Trp101Cys)	NC_000001.10:g.161276643C>G	(Likely) pathogenic	1 lab	3a8445e496
17:48674228 CACNA1G C>T	17	48674228	48674228	C	T	CACNA1G	c.3202C>T	NM_198377.3	NP_938191.2:p.(Arg1068Cys)	NC_000017.10:g.48674228C>T	VUS	1 lab	3a850d42bc
19:16601218 CALR3 C>T	19	16601218	16601218	C	T	CALR3	c.357G>A	NM_145046.5	NP_659483.2:p.(Gln119=)	NC_000019.9:g.16601218C>T	(Likely) benign	1 lab	3a85c11d8e
11:68153915 LRP5 C>T	11	68153915	68153915	C	T	LRP5	c.1147C>T	NM_002335.4	NP_002326.2:p.(Leu383=)	NC_000011.9:g.68153915C>T	(Likely) benign	1 lab	3a880a2367
7:21856320 DNAH11 G>A	7	21856320	21856320	G	A	DNAH11	c.10568G>A	NM_001277115.2	NP_001264044.1:p.(Gly3523Glu)	NC_000007.13:g.21856320G>A	(Likely) pathogenic	1 lab	3a889cbda9
15:73615719 HCN4 G>A	15	73615719	73615719	G	A	HCN4	c.2715C>T	NM_005477.3	NP_005468.1:p.(Ala905=)	NC_000015.9:g.73615719G>A	(Likely) benign	1 lab	3a8d7318b1
14:88459295 GALC C>T	14	88459295	88459295	C	T	GALC	c.195+19G>A	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88459295C>T	(Likely) benign	1 lab	3a8f753024
9:72349174 PTAR1 T>TAAAA	9	72349174	72349201	T	TAAAA	PTAR1	c.324-8_324-5dup	NM_001099666.2	NP_001093136.1:p.?	NC_000009.11:g.72349198_72349201dup	(Likely) benign	1 lab	3a93d43870
10:47086900 NPY4R C>T	10	47086900	47086900	C	T	NPY4R	c.117C>T	NM_005972.6	NP_005963.4:p.(Asp39=)	NC_000010.10:g.47086900C>T	(Likely) benign	1 lab	3a9b8cba8c
10:69881418 MYPN A>G	10	69881418	69881418	A	G	MYPN	c.223A>G	NM_032578.4	NP_115967.2:p.(Ser75Gly)	NC_000010.10:g.69881418A>G	VUS	1 lab	3a9c72cad5
6:16142359 MYLIP A>G	6	16142359	16142359	A	G	MYLIP	c.464+318A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16142359A>G	(Likely) benign	1 lab	3a9d64f8cb
16:67976861 LCAT G>A	16	67976861	67976861	G	A	LCAT	c.330C>T	NM_000229.2	NP_000220.1:p.(Ser110=)	NC_000016.9:g.67976861G>A	(Likely) benign	1 lab	3aa0bafbc0
6:56494071 DST A>G	6	56494071	56494071	A	G	DST	c.4353T>C	NM_001144769.5	NP_001138241.1:p.(Asn1451=)	NC_000006.11:g.56494071A>G	(Likely) benign	1 lab	3aa553a704
16:29591101 MISSING Ref too long to show for this DEL>C	16	29591101	30190029	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29591104_30190029del	(Likely) pathogenic	1 lab	3aa6c144d2
22:29876374 NEFH T>C	22	29876374	29876374	T	C	NEFH	c.123T>C	NM_021076.4	NP_066554.2:p.(Ala41=)	NC_000022.10:g.29876374T>C	(Likely) benign	1 lab	3aab945887
3:119367505 POPDC2 G>C	3	119367505	119367505	G	C	POPDC2	c.611C>G	NM_001369919.2	NP_001356848.1:p.(Thr204Ser)	NC_000003.11:g.119367505G>C	VUS	1 lab	3aac500211
2:179516978 TTN T>A	2	179516978	179516978	T	A	TTN	c.39211+13A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516978T>A	(Likely) benign	1 lab	3aac7dd31b
12:5153654 KCNA5 C>A	12	5153654	5153654	C	A	KCNA5	c.341C>A	NM_002234.4	NP_002225.2:p.(Thr114Lys)	NC_000012.11:g.5153654C>A	VUS	1 lab	3ab0823b87
2:189849527 COL3A1 G>T	2	189849527	189849527	G	T	COL3A1	c.121G>T	NM_000090.4	NP_000081.2:p.(Asp41Tyr)	NC_000002.11:g.189849527G>T	VUS	1 lab	3ab12afcb7
11:68177627 LRP5 C>T	11	68177627	68177627	C	T	LRP5	c.575+19C>T	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68177627C>T	(Likely) benign	1 lab	3ab4c4fd90
15:35083509 ACTC1 C>CCACACA	15	35083509	35083510	C	CCACACA	ACTC1	c.809-14_809-13insTGTGTG	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083510insCACACA	(Likely) benign	1 lab	3ab851e1d2
8:6371303 ANGPT2 A>G	8	6371303	6371303	A	G	ANGPT2	c.1095T>C	NM_001147.3	NP_001138.1:p.(Asn365=)	NC_000008.10:g.6371303A>G	(Likely) benign	1 lab	3af5c9cd90
15:30865121 MISSING Ref too long to show for this DEL>T	15	30865121	32914141	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30865125_32914141del	(Likely) pathogenic	1 lab	3abc02b13a
2:1687844 PXDN C>G	2	1687844	1687844	C	G	PXDN	c.488+8G>C	NM_012293.3	NP_036425.1:p.?	NC_000002.11:g.1687844C>G	(Likely) benign	1 lab	3abd0b182a
2:68855346 MISSING Ref too long to show for this DEL>G	2	68855346	68895195	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.68855347_68895195del	VUS	1 lab	3abd0b30c3
7:100411287 EPHB4 A>G	7	100411287	100411287	A	G	EPHB4	c.1743T>C	NM_004444.5	NP_004435.3:p.(Tyr581=)	NC_000007.13:g.100411287A>G	(Likely) benign	1 lab	3abd7c984f
14:23855310 MYH6 G>A	14	23855310	23855310	G	A	MYH6	c.4990C>T	NM_002471.4	NP_002462.2:p.(Arg1664Cys)	NC_000014.8:g.23855310G>A	VUS	1 lab	3abf22e7c4
8:42761326 HOOK3 T>A	8	42761326	42761326	T	A	HOOK3	c.68T>A	NM_032410.4	NP_115786.1:p.(Phe23Tyr)	NC_000008.10:g.42761326T>A	VUS	1 lab	3ac32945d9
12:32974440 PKP2 C>T	12	32974440	32974440	C	T	PKP2	c.1995G>A	NM_004572.4	NP_004563.2:p.(Pro665=)	NC_000012.11:g.32974440C>T	(Likely) benign	1 lab	3ac3a0b215
1:161276619 MPZ A>T	1	161276619	161276619	A	T	MPZ	c.327T>A	NM_000530.8	NP_000521.2:p.(Asp109Glu)	NC_000001.10:g.161276619A>T	(Likely) pathogenic	1 lab	3ac4030cbc
15:35085477 ACTC1 C>T	15	35085477	35085477	C	T	ACTC1	c.423G>A	NM_005159.5	NP_005150.1:p.(Val141=)	NC_000015.9:g.35085477C>T	(Likely) benign	1 lab	3ac4edee83
3:52430400 DNAH1 G>A	3	52430400	52430400	G	A	DNAH1	c.11276G>A	NM_015512.5	NP_056327.4:p.(Arg3759His)	NC_000003.11:g.52430400G>A	VUS	1 lab	3ac73606db
1:11710779 FBXO2 C>CGCG	1	11710779	11710790	C	CGCG	FBXO2	c.132_134dup	NM_012168.6	NP_036300.2:p.(Ala45dup)	NC_000001.10:g.11710788_11710790dup	(Likely) benign	1 lab	3aca53acf1
12:49434074 KMT2D C>T	12	49434074	49434074	C	T	KMT2D	c.7479G>A	NM_003482.4	NP_003473.3:p.(Gly2493=)	NC_000012.11:g.49434074C>T	(Likely) benign	1 lab	3acddeaca8
2:21225594 APOB T>G	2	21225594	21225594	T	G	APOB	c.12700A>C	NM_000384.3	NP_000375.3:p.(Lys4234Gln)	NC_000002.11:g.21225594T>G	VUS	1 lab	3aced7e7b7
4:100521803 MTTP T>C	4	100521803	100521803	T	C	MTTP	c.1149T>C	NM_000253.4	NP_000244.2:p.(Ser383=)	NC_000004.11:g.100521803T>C	(Likely) benign	1 lab	3ad33808af
X:41333811 NYX G>T	X	41333811	41333811	G	T	NYX	c.1105G>T	NM_022567.2	NP_072089.1:p.(Ala369Ser)	NC_000023.10:g.41333811G>T	VUS	1 lab	3ad47f423c
X:48783203 OTUD5 C>T	X	48783203	48783203	C	T	OTUD5	c.1198G>A	NM_017602.4	NP_060072.1:p.(Glu400Lys)	NC_000023.10:g.48783203C>T	VUS	1 lab	3ad591c40e
14:102508412 DYNC1H1 C>T	14	102508412	102508412	C	T	DYNC1H1	c.12165C>T	NM_001376.5	NP_001367.2:p.(Val4055=)	NC_000014.8:g.102508412C>T	(Likely) benign	1 lab	3ad7309890
2:189957409 COL5A2 T>G	2	189957409	189957409	T	G	COL5A2	c.457-263A>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189957409T>G	(Likely) benign	1 lab	3ad79a0cbc
2:189858744 COL3A1 T>C	2	189858744	189858744	T	C	COL3A1	c.1150-20T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189858744T>C	(Likely) benign	1 lab	3ade73fbcc
7:65426054 GUSB CAAA>C	7	65426054	65426068	CAAA	C	GUSB	c.1790-7_1790-5del	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426066_65426068del	(Likely) benign	1 lab	3ae216f2fc
16:71122408 HYDIN C>T	16	71122408	71122408	C	T	HYDIN	c.1466G>A	NM_001270974.2	NP_001257903.1:p.(Gly489Asp)	NC_000016.9:g.71122408C>T	(Likely) benign	1 lab	3ae2548165
8:19818610 LPL T>C	8	19818610	19818610	T	C	LPL	c.1322+16T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818610T>C	(Likely) benign	1 lab	3ae41198fa
9:35057474 VCP T>C	9	35057474	35057474	T	C	VCP	c.2214A>G	NM_007126.5	NP_009057.1:p.(Glu738=)	NC_000009.11:g.35057474T>C	(Likely) benign	1 lab	3ae57a7a1a
11:116708062 APOA1 C>G	11	116708062	116708062	C	G	APOA1	c.42G>C	NM_001318017.2	NP_001304946.1:p.(Thr14=)	NC_000011.9:g.116708062C>G	(Likely) benign	1 lab	3ae5e457bb
3:38646365 SCN5A C>T	3	38646365	38646365	C	T	SCN5A	c.1373G>A	NM_198056.3	NP_932173.1:p.(Arg458His)	NC_000003.11:g.38646365C>T	VUS	1 lab	3aeda805b3
11:46334239 CREB3L1 G>A	11	46334239	46334239	G	A	CREB3L1	c.962+18G>A	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46334239G>A	(Likely) benign	1 lab	3aeec58d6b
2:21246468 APOB G>T	2	21246468	21246468	G	T	APOB	c.2533C>A	NM_000384.3	NP_000375.3:p.(Gln845Lys)	NC_000002.11:g.21246468G>T	VUS	1 lab	3aefc36054
X:53569400 HUWE1 T>C	X	53569400	53569400	T	C	HUWE1	c.11476+4A>G	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53569400T>C	VUS	1 lab	3af11a6f3e
9:27228200 TEK G>A	9	27228200	27228200	G	A	TEK	c.3201-4G>A	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27228200G>A	(Likely) benign	1 lab	3af12c0c90
12:124387669 DNAH10 C>T	12	124387669	124387669	C	T	DNAH10	c.9461+9C>T	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124387669C>T	(Likely) benign	1 lab	3af19b2d15
6:56420538 DST C>T	6	56420538	56420538	C	T	DST	c.8384G>A	NM_001144769.5	NP_001138241.1:p.(Arg2795His)	NC_000006.11:g.56420538C>T	(Likely) benign	1 lab	3af26ba5b0
X:38145389 RPGR A>C	X	38145389	38145389	A	C	RPGR	c.2863T>G	NM_001034853.2	NP_001030025.1:p.(Trp955Gly)	NC_000023.10:g.38145389A>C	(Likely) benign	1 lab	3af2cf34d1
10:26825151 APBB1IP G>GA	10	26825151	26825167	G	GA	APBB1IP	c.1044+21dup	NM_019043.4	NP_061916.3:p.?	NC_000010.10:g.26825167dup	(Likely) benign	1 lab	3af843fad3
16:920046 LMF1 T>G	16	920046	920046	T	G	LMF1	c.1253A>C	NM_022773.4	NP_073610.2:p.(Glu418Ala)	NC_000016.9:g.920046T>G	(Likely) pathogenic	1 lab	3af8a815d7
6:32497913 HLA-DRB5 C>A	6	32497913	32497913	C	A	HLA-DRB5	c.89G>T	NM_002125.4	NP_002116.2:p.(Gly30Val)	NC_000006.11:g.32497913C>A	(Likely) benign	1 lab	3af93014f4
1:237993901 RYR2 T>A	1	237993901	237993901	T	A	RYR2	c.14727T>A	NM_001035.3	NP_001026.2:p.(Thr4909=)	NC_000001.10:g.237993901T>A	(Likely) benign	1 lab	3af9f157d7
2:179558353 TTN A>C	2	179558353	179558353	A	C	TTN	c.31577T>G	NM_001267550.2	NP_001254479.2:p.(Val10526Gly)	NC_000002.11:g.179558353A>C	VUS	1 lab	3afbb909d2
19:11216073 LDLR T>C	19	11216073	11216073	T	C	LDLR	c.491T>C	NM_000527.5	NP_000518.1:p.(Leu164Pro)	NC_000019.9:g.11216073T>C	(Likely) pathogenic	1 lab	3aff6cd8af
3:46901053 MYL3 C>T	3	46901053	46901053	C	T	MYL3	c.393G>A	NM_000258.3	NP_000249.1:p.(Glu131=)	NC_000003.11:g.46901053C>T	(Likely) benign	1 lab	3b0160c832
16:89349925 ANKRD11 T>C	16	89349925	89349925	T	C	ANKRD11	c.3025A>G	NM_013275.6	NP_037407.4:p.(Lys1009Glu)	NC_000016.9:g.89349925T>C	VUS	1 lab	3b05ff7bfc
14:102514238 DYNC1H1 C>T	14	102514238	102514238	C	T	DYNC1H1	c.13091C>T	NM_001376.5	NP_001367.2:p.(Thr4364Met)	NC_000014.8:g.102514238C>T	VUS	1 lab	3b06b8f802
19:11221441 LDLR T>C	19	11221441	11221441	T	C	LDLR	c.1054T>C	NM_000527.5	NP_000518.1:p.(Cys352Arg)	NC_000019.9:g.11221441T>C	(Likely) pathogenic	1 lab	3b098f6854
6:76751706 IMPG1 T>C	6	76751706	76751706	T	C	IMPG1	c.205A>G	NM_001563.4	NP_001554.2:p.(Lys69Glu)	NC_000006.11:g.76751706T>C	VUS	1 lab	3b0f0b6d49
2:189851910 COL3A1 C>A	2	189851910	189851910	C	A	COL3A1	c.528+45C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189851910C>A	(Likely) benign	1 lab	3b13c60319
2:179541998 TTN C>G	2	179541998	179541998	C	G	TTN	c.34308G>C	NM_001267550.2	NP_001254479.2:p.(Lys11436Asn)	NC_000002.11:g.179541998C>G	VUS	1 lab	3b1638e9aa
8:71037103 NCOA2 TA>T	8	71037103	71037114	TA	T	NCOA2	c.3917-4del	NM_006540.4	NP_006531.1:p.?	NC_000008.10:g.71037114del	(Likely) benign	1 lab	3b17b455f7
1:185964136 HMCN1 C>T	1	185964136	185964136	C	T	HMCN1	c.3695C>T	NM_031935.3	NP_114141.2:p.(Thr1232Met)	NC_000001.10:g.185964136C>T	(Likely) benign	1 lab	3b202329ea
2:58453843 FANCL GAA>G	2	58453843	58453855	GAA	G	FANCL	c.273+18_273+19del	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58453854_58453855del	(Likely) benign	1 lab	3b22a2c9c4
9:107558452 ABCA1 G>A	9	107558452	107558452	G	A	ABCA1	c.5264C>T	NM_005502.4	NP_005493.2:p.(Pro1755Leu)	NC_000009.11:g.107558452G>A	(Likely) benign	1 lab	3b22ef3e88
12:50499405 GPD1 C>T	12	50499405	50499405	C	T	GPD1	c.294C>T	NM_005276.4	NP_005267.2:p.(Ile98=)	NC_000012.11:g.50499405C>T	(Likely) benign	1 lab	3b2499feb9
11:116662407 APOA5 G>C	11	116662407	116662407	G	C	APOA5	c.56C>G	NM_052968.5	NP_443200.2:p.(Ser19Trp)	NC_000011.9:g.116662407G>C	(Likely) benign	1 lab	3b25fcf82a
15:58834863 LIPC A>C	15	58834863	58834863	A	C	LIPC	c.574+13A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834863A>C	(Likely) benign	1 lab	3b26342305
15:31359247 TRPM1 T>C	15	31359247	31359247	T	C	TRPM1	c.669+19A>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31359247T>C	VUS	1 lab	3b270481e0
2:152437991 NEB T>C	2	152437991	152437991	T	C	NEB	c.16284+6A>G	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152437991T>C	(Likely) benign	1 lab	3b2728ba07
8:19805495 LPL T>G	8	19805495	19805495	T	G	LPL	c.89-196T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805495T>G	(Likely) benign	1 lab	3b295fa65d
2:179438736 TTN T>TAA	2	179438736	179438738	T	TAA	TTN	c.72121_72122dup	NM_001267550.2	NP_001254479.2:p.(Leu24041PhefsTer2)	NC_000002.11:g.179438737_179438738dup	(Likely) pathogenic	1 lab	3b29a6108c
X:70638528 MISSING G>Alt too long to show for this DUP	X	70638528	71043002	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.70638530_71043002dup	VUS	1 lab	3b2c5040fa
X:119603038 LAMP2 A>AGGCGGCGAC	X	119603038	119603063	A	AGGCGGCGAC	LAMP2	c.-23_-15dup	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119603055_119603063dup	(Likely) benign	1 lab	3b2cb703f1
3:50684166 MAPKAPK3 C>G	3	50684166	50684166	C	G	MAPKAPK3	c.830-5C>G	NM_001243926.2	NP_001230855.1:p.?	NC_000003.11:g.50684166C>G	(Likely) benign	1 lab	3b2e13e0c9
3:38649647 SCN5A G>A	3	38649647	38649647	G	A	SCN5A	c.993C>T	NM_198056.3	NP_932173.1:p.(Asp331=)	NC_000003.11:g.38649647G>A	(Likely) benign	1 lab	3b2e5127b1
4:140218565 NAA15 Ref too long to show for this DEL>A	4	140218565	140238360	Ref too long to show for this DEL	A	NAA15				NC_000004.11:g.140218566_140238360del	VUS	1 lab	3b42f72834
8:75276336 GDAP1 G>A	8	75276336	75276336	G	A	GDAP1	c.811G>A	NM_018972.4	NP_061845.2:p.(Gly271Arg)	NC_000008.10:g.75276336G>A	(Likely) pathogenic	1 lab	3b465de9de
1:116932337 ATP1A1 G>GA	1	116932337	116932338	G	GA	ATP1A1	c.1023+8_1023+9insA	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116932337_116932338insA	(Likely) benign	1 lab	3b48404a5f
16:72144914 DHX38 C>T	16	72144914	72144914	C	T	DHX38	c.3537C>T	NM_014003.4	NP_054722.2:p.(Ala1179=)	NC_000016.9:g.72144914C>T	(Likely) benign	1 lab	3b4982e68e
2:179424914 TTN C>T	2	179424914	179424914	C	T	TTN	c.85945G>A	NM_001267550.2	NP_001254479.2:p.(Val28649Met)	NC_000002.11:g.179424914C>T	VUS	1 lab	3b4dc7a1a6
2:219674443 CYP27A1 G>C	2	219674443	219674443	G	C	CYP27A1	c.399G>C	NM_000784.4	NP_000775.1:p.(Trp133Cys)	NC_000002.11:g.219674443G>C	VUS	1 lab	3b4f34a9c6
18:29178566 TTR C>G	18	29178566	29178566	C	G	TTR	c.372C>G	NM_000371.4	NP_000362.1:p.(Arg124=)	NC_000018.9:g.29178566C>G	(Likely) benign	1 lab	3b5194c5e6
2:179604015 TTN T>C	2	179604015	179604015	T	C	TTN	c.13945A>G	NM_001267550.2	NP_001254479.2:p.(Lys4649Glu)	NC_000002.11:g.179604015T>C	VUS	1 lab	3b589b2600
2:179436831 TTN G>T	2	179436831	179436831	G	T	TTN	c.74028C>A	NM_001267550.2	NP_001254479.2:p.(Ile24676=)	NC_000002.11:g.179436831G>T	(Likely) benign	1 lab	3b5d814661
7:73459934 ELN A>G	7	73459934	73459934	A	G	ELN	c.541+311A>G	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73459934A>G	(Likely) benign	1 lab	3b5f09ecc2
16:31201450 FUS C>A	16	31201450	31201450	C	A	FUS	c.1156C>A	NM_004960.4	NP_004951.1:p.(Arg386=)	NC_000016.9:g.31201450C>A	(Likely) benign	1 lab	3b60bed2ac
11:68707454 IGHMBP2 T>C	11	68707454	68707454	T	C	IGHMBP2	c.*255T>C	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68707454T>C	(Likely) benign	1 lab	3b62936c6d
19:45411063 APOE C>G	19	45411063	45411063	C	G	APOE	c.168C>G	NM_001302688.2	NP_001289617.1:p.(Pro56=)	NC_000019.9:g.45411063C>G	(Likely) benign	1 lab	3b62cfc7e0
10:112557399 RBM20 C>T	10	112557399	112557399	C	T	RBM20	c.1661C>T	NM_001134363.3	NP_001127835.2:p.(Thr554Ile)	NC_000010.10:g.112557399C>T	VUS	1 lab	3b6474eb66
16:89350699 ANKRD11 T>A	16	89350699	89350699	T	A	ANKRD11	c.2251A>T	NM_001256182.2	NP_001243111.1:p.(Lys751Ter)	NC_000016.9:g.89350699T>A	(Likely) pathogenic	1 lab	3b663dd8ad
15:22752397 MISSING C>Alt too long to show for this DUP	15	22752397	23290863	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752399_23290863dup	(Likely) pathogenic	1 lab	3b66bd229c
19:45412314 APOE T>A	19	45412314	45412314	T	A	APOE	c.839T>A	NM_001302688.2	NP_001289617.1:p.(Val280Glu)	NC_000019.9:g.45412314T>A	(Likely) benign	1 lab	3b66d07112
3:38627153 SCN5A G>GGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTG	(Likely) benign	1 lab	3b6f414f47
8:19810919 LPL C>G	8	19810919	19810919	C	G	LPL	c.528C>G	NM_000237.3	NP_000228.1:p.(Val176=)	NC_000008.10:g.19810919C>G	(Likely) benign	1 lab	3b7349a8d8
2:21236395 APOB C>T	2	21236395	21236395	C	T	APOB	c.3853G>A	NM_000384.3	NP_000375.3:p.(Val1285Ile)	NC_000002.11:g.21236395C>T	VUS	1 lab	3b7363b395
8:59410439 CYP7A1 C>T	8	59410439	59410439	C	T	CYP7A1	c.321+349G>A	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59410439C>T	(Likely) benign	1 lab	3b73a5cc05
5:45303739 HCN1 C>T	5	45303739	45303739	C	T	HCN1	c.1580G>A	NM_021072.4	NP_066550.2:p.(Ser527Asn)	NC_000005.9:g.45303739C>T	VUS	1 lab	3b74aa4d4e
15:48802274 FBN1 AGCCC>A	15	48802274	48802280	AGCCC	A	FBN1	c.1677_1680del	NM_000138.5	NP_000129.3:p.(Gly560PhefsTer18)	NC_000015.9:g.48802277_48802280del	(Likely) pathogenic	1 lab	3b75e696ed
1:55527093 PCSK9 C>T	1	55527093	55527093	C	T	PCSK9	c.1727C>T	NM_174936.4	NP_777596.2:p.(Pro576Leu)	NC_000001.10:g.55527093C>T	VUS	1 lab	3b76f9b201
X:153297900 MECP2 G>A	X	153297900	153297900	G	A	MECP2	c.135C>T	NM_004992.4	NP_004983.1:p.(Pro45=)	NC_000023.10:g.153297900G>A	(Likely) benign	1 lab	3b7bc2fdd2
X:57162913 SPIN2A G>T	X	57162913	57162913	G	T	SPIN2A	c.118C>A	NM_019003.4	NP_061876.3:p.(Arg40=)	NC_000023.10:g.57162913G>T	(Likely) benign	1 lab	3b7e046614
19:1440423 RPS15 G>A	19	1440423	1440423	G	A	RPS15	c.421G>A	NM_001308226.2	NP_001295155.1:p.(Gly141Arg)	NC_000019.9:g.1440423G>A	VUS	1 lab	3b7e3e996c
19:7591505 MCOLN1 G>A	19	7591505	7591505	G	A	MCOLN1	c.405+13G>A	NM_020533.3	NP_065394.1:p.?	NC_000019.9:g.7591505G>A	(Likely) benign	1 lab	3b7f1eaaa3
2:189856391 COL3A1 G>A	2	189856391	189856391	G	A	COL3A1	c.898-4G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856391G>A	(Likely) benign	1 lab	3b7f7d6016
16:929227 LMF1 G>A	16	929227	929227	G	A	LMF1	c.498+343C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929227G>A	(Likely) benign	1 lab	3b839c9f5b
3:7676982 GRM7 Ref too long to show for this DEL>G	3	7676982	7747898	Ref too long to show for this DEL	G	GRM7	c.2452-44753_2698+25916del	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.7676983_7747898del	(Likely) pathogenic	1 lab	3b86bcd0c2
5:141036337 ARAP3 A>G	5	141036337	141036337	A	G	ARAP3	c.3603T>C	NM_022481.6	NP_071926.4:p.(Ala1201=)	NC_000005.9:g.141036337A>G	(Likely) benign	1 lab	3b89091bb3
2:179534182 TTN G>A	2	179534182	179534182	G	A	TTN	c.35471-8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534182G>A	(Likely) benign	1 lab	3b8a58e577
6:32489932 HLA-DRB5 ATCCT>A	6	32489932	32489936	ATCCT	A	HLA-DRB5	c.116_119del	NM_002125.4	NP_002116.2:p.(Gln39LeufsTer40)	NC_000006.11:g.32489933_32489936del	(Likely) benign	1 lab	3b908286a9
8:10467673 RP1L1 C>T	8	10467673	10467673	C	T	RP1L1	c.3935G>A	NM_178857.6	NP_849188.4:p.(Gly1312Glu)	NC_000008.10:g.10467673C>T	(Likely) benign	1 lab	3b91b02123
15:48902564 FBN1 Ref too long to show for this DEL>A	15	48902564	48906692	Ref too long to show for this DEL	A	FBN1	c.165-1403_346+360del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48902565_48906692del	(Likely) pathogenic	1 lab	3b951aaacb
2:21234859 APOB A>G	2	21234859	21234859	A	G	APOB	c.4881T>C	NM_000384.3	NP_000375.3:p.(Asn1627=)	NC_000002.11:g.21234859A>G	(Likely) benign	1 lab	3b951b5c3d
X:70444131 GJB1 G>T	X	70444131	70444131	G	T	GJB1	c.574G>T	NM_000166.6	NP_000157.1:p.(Val192Phe)	NC_000023.10:g.70444131G>T	(Likely) pathogenic	1 lab	3b98418249
20:10622140 JAG1 T>C	20	10622140	10622140	T	C	JAG1	c.2884A>G	NM_000214.3	NP_000205.1:p.(Thr962Ala)	NC_000020.10:g.10622140T>C	VUS	1 lab	3b9d39479a
8:53084669 ST18 T>C	8	53084669	53084669	T	C	ST18	c.752A>G	NM_014682.3	NP_055497.1:p.(Asp251Gly)	NC_000008.10:g.53084669T>C	VUS	1 lab	3bcebd663e
20:5282719 PROKR2 G>T	20	5282719	5282719	G	T	PROKR2	c.1122C>A	NM_144773.4	NP_658986.1:p.(Thr374=)	NC_000020.10:g.5282719G>T	(Likely) benign	1 lab	3ba69fca2a
1:1721893 GNB1 G>A	1	1721893	1721893	G	A	GNB1	c.640C>T	NM_002074.5	NP_002065.1:p.(Arg214Ter)	NC_000001.10:g.1721893G>A	(Likely) pathogenic	1 lab	3ba9c67044
1:236912455 ACTN2 A>G	1	236912455	236912455	A	G	ACTN2	c.923A>G	NM_001278344.2	NP_001265273.1:p.(Gln308Arg)	NC_000001.10:g.236912455A>G	VUS	1 lab	3bb048ab2a
2:44073275 ABCG8 T>G	2	44073275	44073275	T	G	ABCG8	c.166-19T>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073275T>G	(Likely) benign	1 lab	3bb2f28887
16:87417139 FBXO31 G>C	16	87417139	87417139	G	C	FBXO31	c.212C>G	NM_024735.5	NP_079011.3:p.(Pro71Arg)	NC_000016.9:g.87417139G>C	VUS	1 lab	3bb4bd161a
12:33031347 PKP2 G>A	12	33031347	33031347	G	A	PKP2	c.467C>T	NM_004572.4	NP_004563.2:p.(Pro156Leu)	NC_000012.11:g.33031347G>A	VUS	1 lab	3bb8635309
11:100227365 MISSING Ref too long to show for this DEL>C	11	100227365	100457403	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.100227368_100457403del	VUS	1 lab	3bb8ccd950
7:100403240 EPHB4 A>G	7	100403240	100403240	A	G	EPHB4	c.2561T>C	NM_004444.5	NP_004435.3:p.(Leu854Pro)	NC_000007.13:g.100403240A>G	VUS	1 lab	3bba0f7257
2:179497045 TTN G>A	2	179497045	179497045	G	A	TTN	c.43576C>T	NM_001267550.2	NP_001254479.2:p.(Arg14526Ter)	NC_000002.11:g.179497045G>A	(Likely) pathogenic	1 lab	3bba108058
12:50500106 GPD1 C>T	12	50500106	50500106	C	T	GPD1	c.396C>T	NM_005276.4	NP_005267.2:p.(Ile132=)	NC_000012.11:g.50500106C>T	(Likely) benign	1 lab	3bc0c96db6
2:21233760 APOB G>C	2	21233760	21233760	G	C	APOB	c.5980C>G	NM_000384.3	NP_000375.3:p.(Gln1994Glu)	NC_000002.11:g.21233760G>C	VUS	1 lab	3bc0e7e7c4
9:139096838 LHX3 G>C	9	139096838	139096838	G	C	LHX3	c.21C>G	NM_178138.6	NP_835258.1:p.(Leu7=)	NC_000009.11:g.139096838G>C	(Likely) benign	1 lab	3bc9ed75dd
2:21260967 APOB C>A	2	21260967	21260967	C	A	APOB	c.400G>T	NM_000384.3	NP_000375.3:p.(Ala134Ser)	NC_000002.11:g.21260967C>A	(Likely) benign	1 lab	3bcb3857e8
8:82562230 MISSING Ref too long to show for this DEL>G	8	82562230	82569874	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.82562231_82569874del	VUS	1 lab	3bcb94c727
16:1004963 LMF1 CACACACAT>C	16	1004963	1004972	CACACACAT	C	LMF1	c.-361-305_-361-298del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004965_1004972del	VUS	1 lab	3bcc4c28b1
22:23481133 RSPH14 G>GA	22	23481133	23481148	G	GA	RSPH14	c.200-5dup	NM_014433.3	NP_055248.1:p.?	NC_000022.10:g.23481148dup	(Likely) benign	1 lab	3bcc816622
5:13864742 DNAH5 G>A	5	13864742	13864742	G	A	DNAH5	c.4360C>T	NM_001369.3	NP_001360.1:p.(Arg1454Ter)	NC_000005.9:g.13864742G>A	(Likely) pathogenic	1 lab	3bcf314fa0
3:38748887 SCN10A C>T	3	38748887	38748887	C	T	SCN10A	c.4282-13G>A	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38748887C>T	(Likely) benign	1 lab	3bd5aa8470
14:76186179 TTLL5 G>A	14	76186179	76186179	G	A	TTLL5	c.934+10G>A	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76186179G>A	(Likely) benign	1 lab	3bd754ed3a
9:21980581 MISSING C>Alt too long to show for this DUP	9	21980581	22168995	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.21980582_22168995dup	VUS	1 lab	3bd8b6293d
11:5247992 HBB CAAAG>C	11	5247992	5247998	CAAAG	C	HBB	c.126_129del	NM_000518.5	NP_000509.1:p.(Phe42LeufsTer19)	NC_000011.9:g.5247995_5247998del	(Likely) pathogenic	1 lab	3bd9ae64a5
13:52548919 ATP7B T>C	13	52548919	52548919	T	C	ATP7B	c.437A>G	NM_000053.4	NP_000044.2:p.(Lys146Arg)	NC_000013.10:g.52548919T>C	(Likely) benign	1 lab	3bdbf266d2
18:48510797 SMAD4 Ref too long to show for this DEL>C	18	48510797	48604914	Ref too long to show for this DEL	C	SMAD4				NC_000018.9:g.48510798_48604914del	(Likely) pathogenic	1 lab	3bdcd18fbb
10:18827183 CACNB2 C>G	10	18827183	18827183	C	G	CACNB2	c.1212C>G	NM_000724.4	NP_000715.2:p.(Ala404=)	NC_000010.10:g.18827183C>G	(Likely) benign	1 lab	3bde473547
8:19822741 LPL T>A	8	19822741	19822741	T	A	LPL	c.1428-80T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822741T>A	(Likely) benign	1 lab	3be002bc64
11:61723366 BEST1 A>T	11	61723366	61723366	A	T	BEST1	c.244A>T	NM_001139443.2	NP_001132915.1:p.(Ser82Cys)	NC_000011.9:g.61723366A>T	VUS	1 lab	3be1e65b71
20:50387555 MISSING A>Alt too long to show for this DUP	20	50387555	50420272	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.50387557_50420272dup	VUS	1 lab	3be3134aa7
10:70196938 DNA2 A>G	10	70196938	70196938	A	G	DNA2	c.1476T>C	NM_001080449.3	NP_001073918.2:p.(Cys492=)	NC_000010.10:g.70196938A>G	(Likely) benign	1 lab	3be735ce31
11:18303748 HPS5 C>T	11	18303748	18303748	C	T	HPS5	c.3078G>A	NM_181507.2	NP_852608.1:p.(Val1026=)	NC_000011.9:g.18303748C>T	(Likely) benign	1 lab	3bea17d8ff
9:107589412 ABCA1 C>T	9	107589412	107589412	C	T	ABCA1	c.2154G>A	NM_005502.4	NP_005493.2:p.(Val718=)	NC_000009.11:g.107589412C>T	(Likely) benign	1 lab	3bf1a3d99c
19:55367121 KIR3DL2 CAG>C	19	55367121	55367123	CAG	C	KIR3DL2	c.704_705del	NM_006737.4	NP_006728.2:p.(Gln235ArgfsTer10)	NC_000019.9:g.55367122_55367123del	(Likely) benign	1 lab	3bf5fbcd5a
X:154948100 MISSING Ref too long to show for this DEL>A	X	154948100	155235074	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.154948101_155235074del	(Likely) pathogenic	1 lab	3bf6b89604
2:160326887 MISSING C>Alt too long to show for this DUP	2	160326887	160794614	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.160326891_160794614dup	VUS	1 lab	3bf74eeef7
2:21241454 APOB A>T	2	21241454	21241454	A	T	APOB	c.3121+410T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241454A>T	(Likely) benign	1 lab	3c6e9af844
15:45389890 DUOX2 G>A	15	45389890	45389890	G	A	DUOX2	c.3615C>T	NM_014080.5	NP_054799.4:p.(Phe1205=)	NC_000015.9:g.45389890G>A	(Likely) benign	1 lab	3bf9ea5ec6
11:47359327 MYBPC3 G>A	11	47359327	47359327	G	A	MYBPC3	c.2327C>T	NM_000256.3	NP_000247.2:p.(Ala776Val)	NC_000011.9:g.47359327G>A	VUS	1 lab	3bf9ef3ea6
11:1017386 MUC6 C>T	11	1017386	1017386	C	T	MUC6	c.5415G>A	NM_005961.3	NP_005952.2:p.(Gly1805=)	NC_000011.9:g.1017386C>T	(Likely) benign	1 lab	3bfadd23e6
2:73746907 ALMS1 CA>C	2	73746907	73746908	CA	C	ALMS1	c.9549del	NM_015120.4	NP_055935.4:p.(Glu3184ArgfsTer3)	NC_000002.11:g.73746908del	(Likely) pathogenic	1 lab	3bfc94aa05
15:48888539 FBN1 C>T	15	48888539	48888539	C	T	FBN1	c.479G>A	NM_000138.5	NP_000129.3:p.(Cys160Tyr)	NC_000015.9:g.48888539C>T	(Likely) pathogenic	1 lab	3bfd66d422
10:112583220 RBM20 T>C	10	112583220	112583220	T	C	RBM20	c.3317-18T>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583220T>C	(Likely) benign	1 lab	3bfd751961
X:70444089 GJB1 G>T	X	70444089	70444089	G	T	GJB1	c.532G>T	NM_000166.6	NP_000157.1:p.(Asp178Tyr)	NC_000023.10:g.70444089G>T	(Likely) pathogenic	1 lab	3c00fc0f0b
3:129251101 RHO C>T	3	129251101	129251101	C	T	RHO	c.538C>T	NM_000539.3	NP_000530.1:p.(Pro180Ser)	NC_000003.11:g.129251101C>T	(Likely) pathogenic	1 lab	3c05386761
9:34868375 MISSING Ref too long to show for this DEL>T	9	34868375	35037534	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.34868377_35037534del	VUS	1 lab	3c0be0b15b
16:89347400 ANKRD11 G>C	16	89347400	89347400	G	C	ANKRD11	c.5550C>G	NM_001256182.2	NP_001243111.1:p.(Tyr1850Ter)	NC_000016.9:g.89347400G>C	(Likely) pathogenic	1 lab	3c0ce0f617
3:154890381 MME G>A	3	154890381	154890381	G	A	MME	c.2133G>A	NM_007289.4	NP_009220.2:p.(Val711=)	NC_000003.11:g.154890381G>A	(Likely) benign	1 lab	3c0e97113d
15:39885831 THBS1 C>T	15	39885831	39885831	C	T	THBS1	c.3229C>T	NM_003246.4	NP_003237.2:p.(Arg1077Trp)	NC_000015.9:g.39885831C>T	VUS	1 lab	3c124ca0e2
20:57429174 GNAS C>T	20	57429174	57429174	C	T	GNAS	c.667C>T	NM_001077490.3	NP_001070958.1:p.(Pro223Ser)	NC_000020.10:g.57429174C>T	(Likely) benign	1 lab	3c16c09e3a
17:18188455 TOP3A C>G	17	18188455	18188455	C	G	TOP3A	c.1877+1G>C	NM_004618.5	NP_004609.1:p.?	NC_000017.10:g.18188455C>G	(Likely) pathogenic	1 lab	3c1746405a
1:110134777 GNAI3 G>A	1	110134777	110134777	G	A	GNAI3	c.987G>A	NM_006496.4	NP_006487.1:p.(Thr329=)	NC_000001.10:g.110134777G>A	(Likely) benign	1 lab	3c18906887
14:76230983 TTLL5 T>C	14	76230983	76230983	T	C	TTLL5	c.1576T>C	NM_015072.5	NP_055887.3:p.(Leu526=)	NC_000014.8:g.76230983T>C	(Likely) benign	1 lab	3c1a0fc125
9:67927062 ANKRD20A1 G>A	9	67927062	67927062	G	A	ANKRD20A1	c.190G>A	NM_032250.5	NP_115626.2:p.(Asp64Asn)	NC_000009.11:g.67927062G>A	(Likely) benign	1 lab	3c1b1e5e35
15:48789597 FBN1 C>CA	15	48789597	48789603	C	CA	FBN1	c.2168-10dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48789603dup	(Likely) benign	1 lab	3c1b3436ad
19:11238239 LDLR C>G	19	11238239	11238239	C	G	LDLR	c.2312-445C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238239C>G	(Likely) benign	1 lab	3c1e31caa4
X:70444399 GJB1 C>A	X	70444399	70444399	C	A	GJB1	c.842C>A	NM_000166.6	NP_000157.1:p.(Ser281Ter)	NC_000023.10:g.70444399C>A	(Likely) pathogenic	1 lab	3c1f888c12
2:21225001 APOB G>T	2	21225001	21225001	G	T	APOB	c.13293C>A	NM_000384.3	NP_000375.3:p.(Asn4431Lys)	NC_000002.11:g.21225001G>T	(Likely) benign	1 lab	3c2076aefa
12:124281322 DNAH10 T>C	12	124281322	124281322	T	C	DNAH10	c.1752T>C	NM_207437.3	NP_997320.2:p.(His584=)	NC_000012.11:g.124281322T>C	(Likely) benign	1 lab	3c20d05585
3:38753831 SCN10A C>T	3	38753831	38753831	C	T	SCN10A	c.3910G>A	NM_006514.4	NP_006505.4:p.(Ala1304Thr)	NC_000003.11:g.38753831C>T	VUS	1 lab	3c219c0aab
X:100603663 TIMM8A C>A	X	100603663	100603663	C	A	TIMM8A	c.-11G>T	NM_001145951.2	NP_001139423.1:p.?	NC_000023.10:g.100603663C>A	(Likely) benign	1 lab	3c239bc3e6
5:112177911 APC C>T	5	112177911	112177911	C	T	APC	c.6620C>T	NM_000038.6	NP_000029.2:p.(Ser2207Leu)	NC_000005.9:g.112177911C>T	VUS	1 lab	3c2af8bd38
9:137717709 COL5A1 G>A	9	137717709	137717709	G	A	COL5A1	c.5026G>A	NM_000093.5	NP_000084.3:p.(Gly1676Arg)	NC_000009.11:g.137717709G>A	VUS	1 lab	3c2c3d2857
1:55521903 PCSK9 C>T	1	55521903	55521903	C	T	PCSK9	c.996+41C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521903C>T	(Likely) benign	1 lab	3c2e4f316e
15:58855749 LIPC G>T	15	58855749	58855749	G	T	LIPC	c.1215G>T	NM_000236.3	NP_000227.2:p.(Thr405=)	NC_000015.9:g.58855749G>T	(Likely) benign	1 lab	3c3453b636
4:649804 PDE6B C>G	4	649804	649804	C	G	PDE6B	c.1059+9C>G	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.649804C>G	(Likely) benign	1 lab	3c3555e5e3
6:56484119 DST C>T	6	56484119	56484119	C	T	DST	c.4713G>A	NM_001723.7	NP_001714.1:p.(Met1571Ile)	NC_000006.11:g.56484119C>T	VUS	1 lab	3c356b916a
11:47354483 MYBPC3 G>A	11	47354483	47354483	G	A	MYBPC3	c.3372C>T	NM_000256.3	NP_000247.2:p.(Cys1124=)	NC_000011.9:g.47354483G>A	(Likely) benign	1 lab	3c37c20e28
12:115039941 MISSING C>Alt too long to show for this DUP	12	115039941	115414845	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.115039943_115414845dup	VUS	1 lab	3fe0a7501a
14:100828198 WARS1 C>A	14	100828198	100828198	C	A	WARS1	c.160G>T	NM_004184.4	NP_004175.2:p.(Ala54Ser)	NC_000014.8:g.100828198C>A	(Likely) benign	1 lab	3c398582c7
X:70443949 GJB1 T>C	X	70443949	70443949	T	C	GJB1	c.392T>C	NM_000166.6	NP_000157.1:p.(Leu131Pro)	NC_000023.10:g.70443949T>C	(Likely) pathogenic	1 lab	3c3ae614f3
3:38649650 SCN5A A>C	3	38649650	38649650	A	C	SCN5A	c.990T>G	NM_198056.3	NP_932173.1:p.(Ser330=)	NC_000003.11:g.38649650A>C	(Likely) benign	1 lab	3c3b5b3730
12:21375351 SLCO1B1 TATATATATATAC>T	12	21375351	21375364	TATATATATATAC	T	SLCO1B1	c.1747+55_1747+66del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375353_21375364del	(Likely) benign	1 lab	3c3b644745
7:151859288 KMT2C G>T	7	151859288	151859288	G	T	KMT2C	c.11374C>A	NM_170606.3	NP_733751.2:p.(Gln3792Lys)	NC_000007.13:g.151859288G>T	(Likely) benign	1 lab	3c3bbbe0ff
12:122252200 SETD1B A>C	12	122252200	122252200	A	C	SETD1B	c.2079A>C	NM_001353345.2	NP_001340274.1:p.(Pro693=)	NC_000012.11:g.122252200A>C	(Likely) benign	1 lab	3c3c5514c1
2:16082685 MYCN G>T	2	16082685	16082685	G	T	MYCN	c.499G>T	NM_001293228.2	NP_001280157.1:p.(Gly167Ter)	NC_000002.11:g.16082685G>T	(Likely) pathogenic	1 lab	3c3ce75343
2:179565889 TTN G>T	2	179565889	179565889	G	T	TTN	c.30640C>A	NM_001267550.2	NP_001254479.2:p.(Pro10214Thr)	NC_000002.11:g.179565889G>T	VUS	1 lab	3c3de7d7c4
16:67976498 LCAT G>A	16	67976498	67976498	G	A	LCAT	c.524-8C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976498G>A	VUS	1 lab	3c3e20a619
2:39262420 SOS1 T>C	2	39262420	39262420	T	C	SOS1	c.1007A>G	NM_005633.4	NP_005624.2:p.(Gln336Arg)	NC_000002.11:g.39262420T>C	VUS	1 lab	3c3f024685
10:121436800 BAG3 G>T	10	121436800	121436800	G	T	BAG3	c.*6G>T	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121436800G>T	(Likely) benign	1 lab	3c44af45da
7:107696345 LAMB4 G>T	7	107696345	107696345	G	T	LAMB4	c.3487C>A	NM_007356.3	NP_031382.2:p.(Arg1163=)	NC_000007.13:g.107696345G>T	(Likely) benign	1 lab	3c47f1aadc
4:177172031 MISSING Ref too long to show for this DEL>T	4	177172031	179962343	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.177172032_179962343del	VUS	1 lab	3c49f65ff0
17:48267063 COL1A1 G>A	17	48267063	48267063	G	A	COL1A1	c.2644C>T	NM_000088.4	NP_000079.2:p.(Arg882Ter)	NC_000017.10:g.48267063G>A	(Likely) pathogenic	1 lab	3c4af63675
1:3301859 PRDM16 G>A	1	3301859	3301859	G	A	PRDM16	c.573+9G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301859G>A	(Likely) benign	1 lab	3c51199413
15:100803487 ADAMTS17 Ref too long to show for this DEL>G	15	100803487	100818589	Ref too long to show for this DEL	G	ADAMTS17	c.789+2846_790-848del	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100803489_100818589del	VUS	1 lab	3c56415eeb
2:179621194 TTN G>C	2	179621194	179621194	G	C	TTN	c.11009C>G	NM_001267550.2	NP_001254479.2:p.(Thr3670Ser)	NC_000002.11:g.179621194G>C	VUS	1 lab	3c56aae8b4
15:85400525 ALPK3 G>A	15	85400525	85400525	G	A	ALPK3	c.2556G>A	NM_020778.5	NP_065829.4:p.(Gln852=)	NC_000015.9:g.85400525G>A	(Likely) benign	1 lab	3c588d646a
5:37206516 CPLANE1 G>A	5	37206516	37206516	G	A	CPLANE1	c.2932C>T	NM_001384732.1	NP_001371661.1:p.(Arg978Ter)	NC_000005.9:g.37206516G>A	(Likely) pathogenic	1 lab	3c59fab871
15:73029879 BBS4 C>T	15	73029879	73029879	C	T	BBS4	c.1511C>T	NM_033028.5	NP_149017.2:p.(Ala504Val)	NC_000015.9:g.73029879C>T	(Likely) benign	1 lab	3c5a4578ae
16:15844240 MYH11 T>C	16	15844240	15844240	T	C	MYH11	c.1865-52A>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15844240T>C	(Likely) benign	1 lab	3c5d4f1f6c
17:19568350 ALDH3A2 TG>T	17	19568350	19568352	TG	T	ALDH3A2	c.1199del	NM_000382.3	NP_000373.1:p.(Gly400GlufsTer28)	NC_000017.10:g.19568352del	(Likely) pathogenic	1 lab	3c5e989467
11:47372136 MYBPC3 G>A	11	47372136	47372136	G	A	MYBPC3	c.323C>T	NM_000256.3	NP_000247.2:p.(Pro108Leu)	NC_000011.9:g.47372136G>A	VUS	1 lab	3c60988dc7
18:45394843 SMAD2 GA>G	18	45394843	45394846	GA	G	SMAD2	c.521-16del	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45394846del	(Likely) benign	1 lab	3c640f03c6
7:74522194 MISSING Ref too long to show for this DEL>G	7	74522194	74629034	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.74522195_74629034del	VUS	1 lab	3c64fe9144
19:15276890 NOTCH3 G>A	19	15276890	15276890	G	A	NOTCH3	c.5375C>T	NM_000435.3	NP_000426.2:p.(Pro1792Leu)	NC_000019.9:g.15276890G>A	VUS	1 lab	3c6635c5c7
1:156128541 SEMA4A C>T	1	156128541	156128541	C	T	SEMA4A	c.494C>T	NM_022367.4	NP_071762.2:p.(Ser165Leu)	NC_000001.10:g.156128541C>T	(Likely) benign	1 lab	3c66cefd88
2:179422874 TTN A>G	2	179422874	179422874	A	G	TTN	c.87207T>C	NM_001267550.2	NP_001254479.2:p.(Ser29069=)	NC_000002.11:g.179422874A>G	(Likely) benign	1 lab	3c68e462f6
3:191937560 FGF12 Ref too long to show for this DEL>T	3	191937560	192000361	Ref too long to show for this DEL	T	FGF12	c.228+52790_229-49116del	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.191937562_192000361del	VUS	1 lab	3c6a0cb02c
11:62472892 BSCL2 A>C	11	62472892	62472892	A	C	BSCL2	c.285T>G	NM_001386027.1	NP_001372956.1:p.(Phe95Leu)	NC_000011.9:g.62472892A>C	VUS	1 lab	3c6a2d9d3e
11:116661297 APOA5 G>A	11	116661297	116661297	G	A	APOA5	c.648C>T	NM_052968.5	NP_443200.2:p.(His216=)	NC_000011.9:g.116661297G>A	(Likely) benign	1 lab	3c6db50732
10:73553114 CDH23 G>A	10	73553114	73553114	G	A	CDH23	c.6429G>A	NM_022124.6	NP_071407.4:p.(Thr2143=)	NC_000010.10:g.73553114G>A	(Likely) benign	1 lab	3c754ad0bd
2:74598735 DCTN1 C>T	2	74598735	74598735	C	T	DCTN1	c.574G>A	NM_004082.5	NP_004073.2:p.(Ala192Thr)	NC_000002.11:g.74598735C>T	VUS	1 lab	3c76fbe873
12:11214351 TAS2R46 G>C	12	11214351	11214351	G	C	TAS2R46	c.543C>G	NM_176887.2	NP_795368.2:p.(Ile181Met)	NC_000012.11:g.11214351G>C	(Likely) benign	1 lab	3c7bdcb311
X:70443031 GJB1 G>C	X	70443031	70443031	G	C	GJB1	c.-16-511G>C	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70443031G>C	(Likely) pathogenic	1 lab	3c7de797ef
1:74905290 TNNI3K C>T	1	74905290	74905290	C	T	TNNI3K	c.1995C>T	NM_015978.3	NP_057062.1:p.(Phe665=)	NC_000001.10:g.74905290C>T	(Likely) benign	1 lab	3c7ec84e1f
20:62191973 HELZ2 C>T	20	62191973	62191973	C	T	HELZ2	c.7359G>A	NM_001037335.2	NP_001032412.2:p.(Pro2453=)	NC_000020.10:g.62191973C>T	(Likely) benign	1 lab	3c81882b10
3:38663688 SCN5A G>A	3	38663688	38663688	G	A	SCN5A	c.482+203C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38663688G>A	(Likely) benign	1 lab	3c83dfad9f
20:62076118 KCNQ2 G>A	20	62076118	62076118	G	A	KCNQ2	c.584C>T	NM_172107.4	NP_742105.1:p.(Ser195Phe)	NC_000020.10:g.62076118G>A	(Likely) pathogenic	1 lab	3c8554d86f
X:128699461 OCRL C>Alt too long to show for this DUP	X	128699461	128707052	C	Alt too long to show for this DUP	OCRL	c.1245-287_1603-2065dup	NM_000276.4	NP_000267.2:p.?	NC_000023.10:g.128699462_128707052dup	VUS	1 lab	3c85f0c836
12:21375306 SLCO1B1 GAAAA>G	12	21375306	21375332	GAAAA	G	SLCO1B1	c.1747+31_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375329_21375332del	(Likely) benign	1 lab	3c876e5584
9:107566668 ABCA1 C>T	9	107566668	107566668	C	T	ABCA1	c.4559+239G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107566668C>T	(Likely) benign	1 lab	3c899821ed
4:647716 PDE6B A>G	4	647716	647716	A	G	PDE6B	c.787A>G	NM_000283.4	NP_000274.3:p.(Thr263Ala)	NC_000004.11:g.647716A>G	VUS	1 lab	3c8ab62b81
6:100061843 PRDM13 C>G	6	100061843	100061843	C	G	PRDM13	c.1332C>G	NM_021620.4	NP_067633.2:p.(Leu444=)	NC_000006.11:g.100061843C>G	(Likely) benign	1 lab	3c8dd9d235
5:53751886 HSPB3 C>A	5	53751886	53751886	C	A	HSPB3	c.267C>A	NM_006308.3	NP_006299.1:p.(Thr89=)	NC_000005.9:g.53751886C>A	(Likely) benign	1 lab	3c8e262a4c
11:46331631 CREB3L1 A>G	11	46331631	46331631	A	G	CREB3L1	c.595+13A>G	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46331631A>G	(Likely) benign	1 lab	3c9088077b
5:89949655 ADGRV1 A>G	5	89949655	89949655	A	G	ADGRV1	c.4264A>G	NM_032119.4	NP_115495.3:p.(Ser1422Gly)	NC_000005.9:g.89949655A>G	(Likely) benign	1 lab	3c92389e4f
16:46762939 MYLK3 T>A	16	46762939	46762939	T	A	MYLK3	c.1769A>T	NM_182493.3	NP_872299.2:p.(Glu590Val)	NC_000016.9:g.46762939T>A	VUS	1 lab	3c92c7be20
1:237947890 RYR2 C>A	1	237947890	237947890	C	A	RYR2	c.12878C>A	NM_001035.3	NP_001026.2:p.(Thr4293Asn)	NC_000001.10:g.237947890C>A	VUS	1 lab	3c9679d505
6:7584198 DSP G>T	6	7584198	7584198	G	T	DSP	c.6703G>T	NM_004415.4	NP_004406.2:p.(Glu2235Ter)	NC_000006.11:g.7584198G>T	(Likely) pathogenic	1 lab	3c96c1f148
6:16143273 MYLIP T>C	6	16143273	16143273	T	C	MYLIP	c.487T>C	NM_013262.4	NP_037394.2:p.(Leu163=)	NC_000006.11:g.16143273T>C	(Likely) benign	1 lab	3c97e9a08d
4:65188466 TECRL C>G	4	65188466	65188466	C	G	TECRL	c.376G>C	NM_001010874.5	NP_001010874.2:p.(Ala126Pro)	NC_000004.11:g.65188466C>G	(Likely) benign	1 lab	3c9e510340
12:124394003 DNAH10 C>T	12	124394003	124394003	C	T	DNAH10	c.9643+14C>T	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124394003C>T	(Likely) benign	1 lab	3ca1ccc97f
2:79314062 REG1B G>GA	2	79314062	79314072	G	GA	REG1B	c.65-7dup	NM_006507.4	NP_006498.1:p.?	NC_000002.11:g.79314072dup	(Likely) benign	1 lab	3ca20c2ac2
13:20593760 ZMYM2 T>G	13	20593760	20593760	T	G	ZMYM2	c.1584+2T>G	NM_003453.6	NP_003444.1:p.?	NC_000013.10:g.20593760T>G	VUS	1 lab	3ca32f5e2c
19:11226897 LDLR G>T	19	11226897	11226897	G	T	LDLR	c.1705+9G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226897G>T	(Likely) benign	1 lab	3ca5c5f3e2
16:904548 LMF1 A>C	16	904548	904548	A	C	LMF1	c.1289T>G	NM_001352018.2	NP_001338947.1:p.(Leu430Arg)	NC_000016.9:g.904548A>C	(Likely) benign	1 lab	3ca72d52e9
19:48182752 BICRA C>CA	19	48182752	48182754	C	CA	BICRA	c.327dup	NM_015711.3	NP_056526.3:p.(Glu110ArgfsTer14)	NC_000019.9:g.48182754dup	(Likely) pathogenic	1 lab	3ca80507aa
1:78408498 NEXN T>C	1	78408498	78408498	T	C	NEXN	c.2012T>C	NM_144573.4	NP_653174.3:p.(Ile671Thr)	NC_000001.10:g.78408498T>C	VUS	1 lab	3cabcbedc0
16:57003551 CETP G>A	16	57003551	57003551	G	A	CETP	c.397G>A	NM_000078.3	NP_000069.2:p.(Glu133Lys)	NC_000016.9:g.57003551G>A	VUS	1 lab	3cad475f02
X:38150640 RPGR C>G	X	38150640	38150640	C	G	RPGR	c.1506+6G>C	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38150640C>G	(Likely) benign	1 lab	3cb06c2046
16:57012122 CETP TC>T	16	57012122	57012124	TC	T	CETP	c.1103del	NM_000078.3	NP_000069.2:p.(Pro368HisfsTer9)	NC_000016.9:g.57012124del	(Likely) pathogenic	1 lab	3cb3ea44f1
12:21331540 SLCO1B1 G>A	12	21331540	21331540	G	A	SLCO1B1	c.512G>A	NM_006446.5	NP_006437.3:p.(Trp171Ter)	NC_000012.11:g.21331540G>A	(Likely) benign	1 lab	3cb48a6666
11:47373282 MYBPC3 G>A	11	47373282	47373282	G	A	MYBPC3	c.26-226C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373282G>A	(Likely) benign	1 lab	3cbb8e37db
3:128205031 GATA2 G>T	3	128205031	128205031	G	T	GATA2	c.410C>A	NM_032638.5	NP_116027.2:p.(Pro137Gln)	NC_000003.11:g.128205031G>T	(Likely) benign	1 lab	3cbbbb3af8
15:48756094 FBN1 AC>A	15	48756094	48756097	AC	A	FBN1	c.5065+1del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756097del	(Likely) pathogenic	1 lab	3cbf3de484
16:75674252 KARS1 TAAA>T	16	75674252	75674270	TAAA	T	KARS1	c.307-8_307-6del	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75674268_75674270del	(Likely) benign	1 lab	3cc67a232d
8:75272530 GDAP1 A>C	8	75272530	75272530	A	C	GDAP1	c.469A>C	NM_018972.4	NP_061845.2:p.(Thr157Pro)	NC_000008.10:g.75272530A>C	(Likely) pathogenic	1 lab	3cc89fb436
6:80635968 ELOVL4 T>C	6	80635968	80635968	T	C	ELOVL4	c.231A>G	NM_022726.4	NP_073563.1:p.(Leu77=)	NC_000006.11:g.80635968T>C	(Likely) benign	1 lab	3cc8d5e475
15:72030615 THSD4 A>G	15	72030615	72030615	A	G	THSD4	c.1906+269A>G	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72030615A>G	(Likely) benign	1 lab	3cc913ebd4
16:88874518 CDT1 C>G	16	88874518	88874518	C	G	CDT1	c.1478-5C>G	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88874518C>G	(Likely) benign	1 lab	3cca2113b2
1:161762127 ATF6 C>G	1	161762127	161762127	C	G	ATF6	c.688+10C>G	NM_007348.4	NP_031374.2:p.?	NC_000001.10:g.161762127C>G	(Likely) benign	1 lab	3cce7e1621
16:67977085 LCAT G>T	16	67977085	67977085	G	T	LCAT	c.185C>A	NM_000229.2	NP_000220.1:p.(Ala62Asp)	NC_000016.9:g.67977085G>T	VUS	1 lab	3ccec38453
2:21229929 APOB C>T	2	21229929	21229929	C	T	APOB	c.9811G>A	NM_000384.3	NP_000375.3:p.(Gly3271Ser)	NC_000002.11:g.21229929C>T	(Likely) benign	1 lab	3cd0a121dd
10:90988126 LIPA C>T	10	90988126	90988126	C	T	LIPA	c.259G>A	NM_000235.4	NP_000226.2:p.(Gly87Ser)	NC_000010.10:g.90988126C>T	VUS	1 lab	3cd15e8851
8:19813380 LPL C>T	8	19813380	19813380	C	T	LPL	c.804C>T	NM_000237.3	NP_000228.1:p.(His268=)	NC_000008.10:g.19813380C>T	(Likely) benign	1 lab	3cd2aab97f
5:127674629 FBN2 G>A	5	127674629	127674629	G	A	FBN2	c.3468C>T	NM_001999.4	NP_001990.2:p.(Cys1156=)	NC_000005.9:g.127674629G>A	(Likely) benign	1 lab	3cd42c0de9
10:12133572 DHTKD1 A>G	10	12133572	12133572	A	G	DHTKD1	c.1048A>G	NM_018706.7	NP_061176.4:p.(Asn350Asp)	NC_000010.10:g.12133572A>G	(Likely) benign	1 lab	3cd4dcf757
2:179655547 TTN G>A	2	179655547	179655547	G	A	TTN	c.1688C>T	NM_001267550.2	NP_001254479.2:p.(Ala563Val)	NC_000002.11:g.179655547G>A	VUS	1 lab	3cd5d541db
10:90699306 ACTA2 G>A	10	90699306	90699306	G	A	ACTA2	c.766C>T	NM_001613.4	NP_001604.1:p.(Arg256Cys)	NC_000010.10:g.90699306G>A	(Likely) pathogenic	1 lab	3cd628bed5
3:50685342 MAPKAPK3 C>A	3	50685342	50685342	C	A	MAPKAPK3	c.1014C>A	NM_001243926.2	NP_001230855.1:p.(Ala338=)	NC_000003.11:g.50685342C>A	(Likely) benign	1 lab	3cd76e5b90
12:122079160 ORAI1 G>A	12	122079160	122079160	G	A	ORAI1	c.517G>A	NM_032790.3	NP_116179.2:p.(Glu173Lys)	NC_000012.11:g.122079160G>A	VUS	1 lab	3cd8e5198c
15:45388019 DUOX2 C>T	15	45388019	45388019	C	T	DUOX2	c.4080+7G>A	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45388019C>T	(Likely) benign	1 lab	3cd950a053
15:22770420 MISSING A>Alt too long to show for this DUP	15	22770420	23214755	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23214755dup	(Likely) pathogenic	1 lab	3cd95254a2
9:79952155 VPS13A A>T	9	79952155	79952155	A	T	VPS13A	c.6096-16A>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79952155A>T	(Likely) benign	1 lab	3cda1c4267
15:85383833 ALPK3 G>A	15	85383833	85383833	G	A	ALPK3	c.1323G>A	NM_020778.5	NP_065829.4:p.(Ala441=)	NC_000015.9:g.85383833G>A	(Likely) benign	1 lab	3cda78eea5
2:44053603 ABCG5 A>G	2	44053603	44053603	A	G	ABCG5	c.692T>C	NM_022436.3	NP_071881.1:p.(Ile231Thr)	NC_000002.11:g.44053603A>G	(Likely) pathogenic	1 lab	3cdcce7140
5:159839530 SLU7 T>TAAAA	5	159839530	159839544	T	TAAAA	SLU7	c.571-8_571-5dup	NM_006425.5	NP_006416.3:p.?	NC_000005.9:g.159839541_159839544dup	(Likely) benign	1 lab	3cdd666807
18:77464814 CTDP1 G>A	18	77464814	77464814	G	A	CTDP1	c.669G>A	NM_048368.4	NP_430255.2:p.(Thr223=)	NC_000018.9:g.77464814G>A	(Likely) benign	1 lab	3ce1cf930c
5:73181701 ARHGEF28 C>T	5	73181701	73181701	C	T	ARHGEF28	c.3082C>T	NM_001080479.3	NP_001073948.2:p.(Arg1028Cys)	NC_000005.9:g.73181701C>T	(Likely) benign	1 lab	3ce2adac7a
2:44051350 ABCG5 C>T	2	44051350	44051350	C	T	ABCG5	c.1118+8G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051350C>T	(Likely) benign	1 lab	3ce49582a8
18:31298483 MISSING T>Alt too long to show for this DUP	18	31298483	31421310	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.31298485_31421310dup	VUS	1 lab	3ce546a922
19:50335414 MED25 G>C	19	50335414	50335414	G	C	MED25	c.1374G>C	NM_030973.4	NP_112235.2:p.(Leu458=)	NC_000019.9:g.50335414G>C	(Likely) benign	1 lab	3ce62c5877
8:10470794 RP1L1 G>C	8	10470794	10470794	G	C	RP1L1	c.814C>G	NM_178857.6	NP_849188.4:p.(Pro272Ala)	NC_000008.10:g.10470794G>C	(Likely) benign	1 lab	3ce6c80de4
9:107593362 ABCA1 C>T	9	107593362	107593362	C	T	ABCA1	c.1736G>A	NM_005502.4	NP_005493.2:p.(Arg579Gln)	NC_000009.11:g.107593362C>T	VUS	1 lab	3ceb8b8a57
3:87325485 POU1F1 T>C	3	87325485	87325485	T	C	POU1F1	c.128A>G	NM_001122757.3	NP_001116229.1:p.(Asn43Ser)	NC_000003.11:g.87325485T>C	VUS	1 lab	3cebbf8dc3
2:179563647 TTN A>AC	2	179563647	179563648	A	AC	TTN	c.30683-7_30683-6insG	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563647_179563648insC	(Likely) benign	1 lab	3cf4a21883
9:116044905 PRPF4 CTT>C	9	116044905	116044920	CTT	C	PRPF4	c.396-7_396-6del	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116044919_116044920del	(Likely) benign	1 lab	3cf5caef99
10:87535118 GRID1 Ref too long to show for this DEL>G	10	87535118	87553324	Ref too long to show for this DEL	G	GRID1	c.1233+60931_1234-45748del	NM_017551.3	NP_060021.1:p.?	NC_000010.10:g.87535121_87553324del	VUS	1 lab	3cf7767848
3:136045699 PCCB A>G	3	136045699	136045699	A	G	PCCB	c.1205A>G	NM_001178014.2	NP_001171485.1:p.(Asp402Gly)	NC_000003.11:g.136045699A>G	VUS	1 lab	3cfacb8597
3:170198835 SLC7A14 A>G	3	170198835	170198835	A	G	SLC7A14	c.1236T>C	NM_020949.3	NP_066000.2:p.(Ser412=)	NC_000003.11:g.170198835A>G	(Likely) benign	1 lab	3cfbc680dd
19:49685957 TRPM4 A>G	19	49685957	49685957	A	G	TRPM4	c.1386A>G	NM_017636.4	NP_060106.2:p.(Gln462=)	NC_000019.9:g.49685957A>G	(Likely) benign	1 lab	3cfe26bde2
8:144297360 GPIHBP1 C>T	8	144297360	144297360	C	T	GPIHBP1	c.522C>T	NM_178172.6	NP_835466.2:p.(Ala174=)	NC_000008.10:g.144297360C>T	(Likely) benign	1 lab	3d015667b2
19:11231101 LDLR C>A	19	11231101	11231101	C	A	LDLR	c.2043C>A	NM_000527.5	NP_000518.1:p.(Cys681Ter)	NC_000019.9:g.11231101C>A	(Likely) pathogenic	1 lab	3d0158cd8e
17:62512343 CEP95 Ref too long to show for this DEL>T	17	62512343	62525597	Ref too long to show for this DEL	T	CEP95	c.368-497_1446+52del	NM_138363.3	NP_612372.1:p.?	NC_000017.10:g.62512344_62525597del	VUS	1 lab	3d025aa7ce
X:562100 MISSING A>Alt too long to show for this DUP	X	562100	602733	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.562102_602733dup	VUS	1 lab	3d046e7796
1:5924500 NPHP4 G>A	1	5924500	5924500	G	A	NPHP4	c.3894C>T	NM_015102.5	NP_055917.1:p.(Ala1298=)	NC_000001.10:g.5924500G>A	(Likely) benign	1 lab	3d053ac577
1:12018202 PLOD1 C>T	1	12018202	12018202	C	T	PLOD1	c.843+202C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12018202C>T	(Likely) benign	1 lab	3d064b4dc3
22:29886094 NEFH C>T	22	29886094	29886094	C	T	NEFH	c.2465C>T	NM_021076.4	NP_066554.2:p.(Ser822Phe)	NC_000022.10:g.29886094C>T	VUS	1 lab	3d0aa77732
12:125298904 SCARB1 G>C	12	125298904	125298904	G	C	SCARB1	c.474C>G	NM_001367981.1	NP_001354910.1:p.(Ile158Met)	NC_000012.11:g.125298904G>C	(Likely) benign	1 lab	3d0d36c51c
15:48727969 FBN1 A>ATGTG	15	48727969	48728008	A	ATGTG	FBN1	c.6497-1063_6497-1060dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48728005_48728008dup	(Likely) benign	1 lab	3d0d53e5d3
6:56417050 DST G>C	6	56417050	56417050	G	C	DST	c.10183C>G	NM_001144769.5	NP_001138241.1:p.(His3395Asp)	NC_000006.11:g.56417050G>C	VUS	1 lab	3d10543f56
4:65180308 TECRL GGTGTGT>G	4	65180308	65180356	GGTGTGT	G	TECRL	c.551+52_551+57del	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65180351_65180356del	(Likely) benign	1 lab	3d176922ff
2:44071352 ABCG8 T>A	2	44071352	44071352	T	A	ABCG8	c.64-294T>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071352T>A	(Likely) benign	1 lab	3d18a46e2c
7:94039542 COL1A2 A>G	7	94039542	94039542	A	G	COL1A2	c.1036-12A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94039542A>G	(Likely) benign	1 lab	3d1c2f19d2
14:23902316 MYH7 G>A	14	23902316	23902316	G	A	MYH7	c.322C>T	NM_000257.4	NP_000248.2:p.(Arg108Cys)	NC_000014.8:g.23902316G>A	VUS	1 lab	3d1eb67082
10:12149896 DHTKD1 G>T	10	12149896	12149896	G	T	DHTKD1	c.2048-12G>T	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12149896G>T	(Likely) benign	1 lab	3d1ff3e14b
19:17091356 CPAMD8 C>T	19	17091356	17091356	C	T	CPAMD8	c.1536G>A	NM_015692.5	NP_056507.3:p.(Ala512=)	NC_000019.9:g.17091356C>T	(Likely) benign	1 lab	3d2120173b
11:47356483 MYBPC3 G>GAA	11	47356483	47356484	G	GAA	MYBPC3	c.2905+109_2905+110insTT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356483_47356484insAA	(Likely) benign	1 lab	3d23de24f3
2:179648526 TTN A>G	2	179648526	179648526	A	G	TTN	c.2776-14T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179648526A>G	(Likely) benign	1 lab	3d65907d85
3:101023001 IMPG2 A>G	3	101023001	101023001	A	G	IMPG2	c.490T>C	NM_016247.4	NP_057331.2:p.(Leu164=)	NC_000003.11:g.101023001A>G	(Likely) benign	1 lab	3d2563b285
X:70444213 GJB1 G>A	X	70444213	70444213	G	A	GJB1	c.656G>A	NM_000166.6	NP_000157.1:p.(Arg219His)	NC_000023.10:g.70444213G>A	(Likely) pathogenic	1 lab	3d260fc77e
17:44061036 MAPT T>C	17	44061036	44061036	T	C	MAPT	c.866T>C	NM_001123066.4	NP_001116538.2:p.(Val289Ala)	NC_000017.10:g.44061036T>C	(Likely) benign	1 lab	3d26d47587
3:37045878 MLH1 C>T	3	37045878	37045878	C	T	MLH1	c.307-14C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37045878C>T	(Likely) benign	1 lab	3d2c1aaebc
8:59404294 CYP7A1 T>C	8	59404294	59404294	T	C	CYP7A1	c.1255A>G	NM_000780.4	NP_000771.2:p.(Thr419Ala)	NC_000008.10:g.59404294T>C	VUS	1 lab	3d2d86091c
1:55521802 PCSK9 C>T	1	55521802	55521802	C	T	PCSK9	c.936C>T	NM_174936.4	NP_777596.2:p.(Val312=)	NC_000001.10:g.55521802C>T	(Likely) benign	1 lab	3d2dabeb57
5:96375850 MISSING Ref too long to show for this DEL>C	5	96375850	96467756	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.96375851_96467756del	VUS	1 lab	3d2f0637c8
10:35456540 MISSING A>Alt too long to show for this DUP	10	35456540	35668973	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.35456542_35668973dup	VUS	1 lab	3d2f6eca49
22:50895085 SBF1 G>A	22	50895085	50895085	G	A	SBF1	c.3922C>T	NM_002972.4	NP_002963.2:p.(Arg1308Trp)	NC_000022.10:g.50895085G>A	VUS	1 lab	3d312a385c
10:123299324 MISSING T>Alt too long to show for this DUP	10	123299324	123806262	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.123299325_123806262dup	VUS	1 lab	3d32e0d597
2:21246408 APOB C>T	2	21246408	21246408	C	T	APOB	c.2593G>A	NM_000384.3	NP_000375.3:p.(Glu865Lys)	NC_000002.11:g.21246408C>T	(Likely) benign	1 lab	3d3488d773
9:107576382 ABCA1 A>T	9	107576382	107576382	A	T	ABCA1	c.3901+17T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576382A>T	(Likely) benign	1 lab	3d3905b0db
19:19010712 COPE G>A	19	19010712	19010712	G	A	COPE	c.849C>T	NM_007263.4	NP_009194.2:p.(Ser283=)	NC_000019.9:g.19010712G>A	(Likely) benign	1 lab	3d39220878
2:220083049 ABCB6 A>C	2	220083049	220083049	A	C	ABCB6	c.347T>G	NM_005689.4	NP_005680.1:p.(Leu116Arg)	NC_000002.11:g.220083049A>C	(Likely) benign	1 lab	3d3a97157e
17:58740645 PPM1D C>T	17	58740645	58740645	C	T	PPM1D	c.1550C>T	NM_003620.4	NP_003611.1:p.(Thr517Ile)	NC_000017.10:g.58740645C>T	(Likely) benign	1 lab	3d3aeb124f
3:49698075 BSN G>A	3	49698075	49698075	G	A	BSN	c.8797G>A	NM_003458.4	NP_003449.2:p.(Val2933Ile)	NC_000003.11:g.49698075G>A	(Likely) benign	1 lab	3d4118169e
2:44055186 ABCG5 C>T	2	44055186	44055186	C	T	ABCG5	c.570G>A	NM_022436.3	NP_071881.1:p.(Leu190=)	NC_000002.11:g.44055186C>T	(Likely) benign	1 lab	3d4281cdf0
7:136601934 CHRM2 Ref too long to show for this DEL>T	7	136601934	136612817	Ref too long to show for this DEL	T	CHRM2	c.-125+47771_-125+58652del	NM_001006630.2	NP_001006631.1:p.?	NC_000007.13:g.136601936_136612817del	VUS	1 lab	3d44d25fed
16:29388492 MISSING Ref too long to show for this DEL>G	16	29388492	30178408	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.29388496_30178408del	(Likely) pathogenic	1 lab	3d4a29f1a1
4:100518331 MTTP G>A	4	100518331	100518331	G	A	MTTP	c.1017G>A	NM_000253.4	NP_000244.2:p.(Ala339=)	NC_000004.11:g.100518331G>A	(Likely) benign	1 lab	3d4caedd9e
2:179396767 TTN G>A	2	179396767	179396767	G	A	TTN	c.104575C>T	NM_001267550.2	NP_001254479.2:p.(Arg34859Trp)	NC_000002.11:g.179396767G>A	VUS	1 lab	3d50b020fa
15:72040774 THSD4 C>T	15	72040774	72040774	C	T	THSD4	c.2256C>T	NM_024817.2	NP_079093.2:p.(Cys752=)	NC_000015.9:g.72040774C>T	(Likely) benign	1 lab	3d530dd0df
16:88800814 PIEZO1 G>A	16	88800814	88800814	G	A	PIEZO1	c.2130C>T	NM_001142864.4	NP_001136336.2:p.(Asp710=)	NC_000016.9:g.88800814G>A	(Likely) benign	1 lab	3d5813e135
2:21245796 APOB T>C	2	21245796	21245796	T	C	APOB	c.2723A>G	NM_000384.3	NP_000375.3:p.(Glu908Gly)	NC_000002.11:g.21245796T>C	VUS	1 lab	3d5a559901
2:179413598 TTN G>A	2	179413598	179413598	G	A	TTN	c.92755C>T	NM_001267550.2	NP_001254479.2:p.(Arg30919Trp)	NC_000002.11:g.179413598G>A	VUS	1 lab	3d62d37d27
1:92754680 GLMN A>T	1	92754680	92754680	A	T	GLMN	c.423T>A	NM_053274.3	NP_444504.1:p.(Tyr141Ter)	NC_000001.10:g.92754680A>T	(Likely) pathogenic	1 lab	3d68a753fb
21:38884701 DYRK1A A>G	21	38884701	38884701	A	G	DYRK1A	c.2132A>G	NM_001347721.2	NP_001334650.1:p.(Tyr711Cys)	NC_000021.8:g.38884701A>G	VUS	1 lab	3d693eb546
16:919876 LMF1 C>G	16	919876	919876	C	G	LMF1	c.1416+7G>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.919876C>G	(Likely) benign	1 lab	3d6a895e92
15:65514244 MISSING Ref too long to show for this DEL>G	15	65514244	65551120	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.65514246_65551120del	VUS	1 lab	3d6e99061f
14:23863266 MYH6 C>CT	14	23863266	23863267	C	CT	MYH6	c.2685+10_2685+11insA	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863266_23863267insT	(Likely) benign	1 lab	3d6f8cc1f0
9:139390861 NOTCH1 G>A	9	139390861	139390861	G	A	NOTCH1	c.7330C>T	NM_017617.5	NP_060087.3:p.(Gln2444Ter)	NC_000009.11:g.139390861G>A	VUS	1 lab	3d71eb26f7
6:30438949 MISSING T>Alt too long to show for this DUP	6	30438949	30519415	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.30438951_30519415dup	VUS	1 lab	3d765d0335
2:179429010 TTN A>G	2	179429010	179429010	A	G	TTN	c.81849T>C	NM_001267550.2	NP_001254479.2:p.(Asp27283=)	NC_000002.11:g.179429010A>G	(Likely) benign	1 lab	3d776647c0
16:57017242 CETP C>T	16	57017242	57017242	C	T	CETP	c.1326C>T	NM_000078.3	NP_000069.2:p.(Leu442=)	NC_000016.9:g.57017242C>T	(Likely) benign	1 lab	3d777b6989
12:122254944 SETD1B G>T	12	122254944	122254944	G	T	SETD1B	c.2721G>T	NM_001353345.2	NP_001340274.1:p.(Ser907=)	NC_000012.11:g.122254944G>T	(Likely) benign	1 lab	3d7bda4624
16:943209 LMF1 C>A	16	943209	943209	C	A	LMF1	c.664-137G>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.943209C>A	(Likely) benign	1 lab	3d8048f00f
5:137727115 KDM3B GCC>G	5	137727115	137727118	GCC	G	KDM3B	c.1796_1797del	NM_016604.4	NP_057688.3:p.(Pro599HisfsTer20)	NC_000005.9:g.137727117_137727118del	(Likely) pathogenic	1 lab	3d82f984a3
3:2640889 CNTN4 C>Alt too long to show for this DUP	3	2640889	3001392	C	Alt too long to show for this DUP	CNTN4	c.55+27648_1359-28637dup	NM_175607.3	NP_783200.1:p.?	NC_000003.11:g.2640890_3001392dup	VUS	1 lab	3d88348ca8
18:25572770 CDH2 A>C	18	25572770	25572770	A	C	CDH2	c.1193T>G	NM_001792.5	NP_001783.2:p.(Ile398Ser)	NC_000018.9:g.25572770A>C	VUS	1 lab	3d888bdd5d
7:128494740 FLNC A>G	7	128494740	128494740	A	G	FLNC	c.6997+4A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128494740A>G	(Likely) benign	1 lab	3d8b674bd0
11:19077223 MRGPRX2 A>G	11	19077223	19077223	A	G	MRGPRX2	c.727T>C	NM_001303615.2	NP_001290544.1:p.(Trp243Arg)	NC_000011.9:g.19077223A>G	(Likely) benign	1 lab	3d8b9c51ae
1:6529748 PLEKHG5 G>T	1	6529748	6529748	G	T	PLEKHG5	c.1801-12C>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6529748G>T	(Likely) benign	1 lab	3d8c92e005
14:88407842 GALC G>A	14	88407842	88407842	G	A	GALC	c.1731C>T	NM_000153.4	NP_000144.2:p.(Phe577=)	NC_000014.8:g.88407842G>A	(Likely) benign	1 lab	3d8f404575
7:100855180 PLOD3 G>A	7	100855180	100855180	G	A	PLOD3	c.1179C>T	NM_001084.5	NP_001075.1:p.(Ala393=)	NC_000007.13:g.100855180G>A	(Likely) benign	1 lab	3d90a19ff7
3:33155623 CRTAP CTGCGCGCTGCGCGCCG>C	3	33155623	33155639	CTGCGCGCTGCGCGCCG	C	CRTAP	c.55_70del	NM_006371.5	NP_006362.1:p.(Cys19GlyfsTer18)	NC_000003.11:g.33155624_33155639del	(Likely) pathogenic	1 lab	3d9199cba6
15:48787425 FBN1 T>C	15	48787425	48787425	T	C	FBN1	c.2572A>G	NM_000138.5	NP_000129.3:p.(Ile858Val)	NC_000015.9:g.48787425T>C	VUS	1 lab	3d949a3c58
1:225990448 MISSING A>Alt too long to show for this DUP	1	225990448	226017804	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.225990451_226017804dup	VUS	1 lab	3d955b7b18
1:6531124 PLEKHG5 T>C	1	6531124	6531124	T	C	PLEKHG5	c.1318A>G	NM_198681.4	NP_941374.3:p.(Met440Val)	NC_000001.10:g.6531124T>C	(Likely) benign	1 lab	3d9a02dbaa
2:179446516 TTN G>A	2	179446516	179446516	G	A	TTN	c.66479C>T	NM_001267550.2	NP_001254479.2:p.(Pro22160Leu)	NC_000002.11:g.179446516G>A	VUS	1 lab	3d9e647151
1:74797213 TNNI3K C>T	1	74797213	74797213	C	T	TNNI3K	c.524C>T	NM_015978.3	NP_057062.1:p.(Ala175Val)	NC_000001.10:g.74797213C>T	VUS	1 lab	3d9fcdfbda
3:189675722 P3H2 G>A	3	189675722	189675722	G	A	P3H2	c.2106C>T	NM_018192.4	NP_060662.2:p.(Ile702=)	NC_000003.11:g.189675722G>A	(Likely) benign	1 lab	3da0b4f34a
19:19465014 MISSING T>Alt too long to show for this DUP	19	19465014	19531792	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.19465015_19531792dup	VUS	1 lab	3da61a1134
X:135067874 SLC9A6 C>A	X	135067874	135067874	C	A	SLC9A6	c.213C>A	NM_001042537.2	NP_001036002.1:p.(Ser71Arg)	NC_000023.10:g.135067874C>A	VUS	1 lab	3da6a7c224
12:93756491 MISSING Ref too long to show for this DEL>C	12	93756491	93785573	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.93756493_93785573del	VUS	1 lab	3dabd2f5d8
7:128038574 IMPDH1 T>C	7	128038574	128038574	T	C	IMPDH1	c.968A>G	NM_000883.4	NP_000874.2:p.(Lys323Arg)	NC_000007.13:g.128038574T>C	(Likely) pathogenic	1 lab	3daca024aa
2:219894154 CFAP65 G>A	2	219894154	219894154	G	A	CFAP65	c.1621C>T	NM_194302.4	NP_919278.2:p.(Arg541Trp)	NC_000002.11:g.219894154G>A	(Likely) pathogenic	1 lab	3daf33387e
15:63336252 TPM1 A>G	15	63336252	63336252	A	G	TPM1	c.141A>G	NM_001365776.1	NP_001352705.1:p.(Gln47=)	NC_000015.9:g.63336252A>G	VUS	1 lab	3db4e52d1a
4:70501544 UGT2A1 ACC>A	4	70501544	70501546	ACC	A	UGT2A1	c.1345+3071_1345+3072del	NM_001252274.3	NP_001239203.2:p.?	NC_000004.11:g.70501545_70501546del	(Likely) benign	1 lab	3db80f95a4
20:45354683 SLC2A10 C>T	20	45354683	45354683	C	T	SLC2A10	c.1008C>T	NM_030777.4	NP_110404.1:p.(Thr336=)	NC_000020.10:g.45354683C>T	(Likely) benign	1 lab	3dbd7d51a9
3:38592951 SCN5A G>A	3	38592951	38592951	G	A	SCN5A	c.4912C>T	NM_198056.3	NP_932173.1:p.(Arg1638Ter)	NC_000003.11:g.38592951G>A	(Likely) pathogenic	1 lab	3dc132b124
15:73617663 HCN4 G>A	15	73617663	73617663	G	A	HCN4	c.1713C>T	NM_005477.3	NP_005468.1:p.(Gly571=)	NC_000015.9:g.73617663G>A	VUS	1 lab	3dc38b171a
12:26820412 ITPR2 Ref too long to show for this DEL>T	12	26820412	26966655	Ref too long to show for this DEL	T	ITPR2	c.92+18969_1410-1429del	NM_002223.4	NP_002214.2:p.?	NC_000012.11:g.26820414_26966655del	VUS	1 lab	3dc4f7b7c9
3:123348313 MYLK C>A	3	123348313	123348313	C	A	MYLK	c.5114+8G>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123348313C>A	(Likely) benign	1 lab	3dc74847b4
2:179458139 TTN G>A	2	179458139	179458139	G	A	TTN	c.58796C>T	NM_001267550.2	NP_001254479.2:p.(Thr19599Ile)	NC_000002.11:g.179458139G>A	VUS	1 lab	3dc934d1fd
7:127892035 LEP T>C	7	127892035	127892035	T	C	LEP	c.-28-9T>C	NM_000230.3	NP_000221.1:p.?	NC_000007.13:g.127892035T>C	(Likely) benign	1 lab	3dc964efe6
12:49374349 WNT1 G>C	12	49374349	49374349	G	C	WNT1	c.501G>C	NM_005430.4	NP_005421.1:p.(Trp167Cys)	NC_000012.11:g.49374349G>C	(Likely) pathogenic	1 lab	3dcc6876f3
2:15674741 NBAS T>C	2	15674741	15674741	T	C	NBAS	c.672A>G	NM_015909.4	NP_056993.2:p.(Gln224=)	NC_000002.11:g.15674741T>C	(Likely) benign	1 lab	3dcd66f38c
11:118015907 SCN4B C>T	11	118015907	118015907	C	T	SCN4B	c.99G>A	NM_174934.4	NP_777594.1:p.(Val33=)	NC_000011.9:g.118015907C>T	VUS	1 lab	3dd14b5c58
2:182542817 NEUROD1 A>G	2	182542817	182542817	A	G	NEUROD1	c.771T>C	NM_002500.5	NP_002491.3:p.(Phe257=)	NC_000002.11:g.182542817A>G	(Likely) benign	1 lab	3dd4950132
11:63403823 ATL3 AAAG>A	11	63403823	63403829	AAAG	A	ATL3	c.851-20_851-18del	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63403827_63403829del	(Likely) benign	1 lab	3dd544d935
16:8819057 MISSING G>Alt too long to show for this DUP	16	8819057	9165147	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.8819059_9165147dup	VUS	1 lab	3dd8d5d05a
14:23884295 MYH7 TCCAGCTCCCGCAC>T	14	23884295	23884310	TCCAGCTCCCGCAC	T	MYH7	c.5455_5467del	NM_000257.4	NP_000248.2:p.(Val1819ArgfsTer15)	NC_000014.8:g.23884298_23884310del	VUS	1 lab	3de757afa3
9:136434610 ADAMTSL2 C>G	9	136434610	136434610	C	G	ADAMTSL2	c.2325C>G	NM_001145320.2	NP_001138792.1:p.(Ser775=)	NC_000009.11:g.136434610C>G	(Likely) benign	1 lab	3de7e111c9
19:15298774 NOTCH3 C>T	19	15298774	15298774	C	T	NOTCH3	c.1524G>A	NM_000435.3	NP_000426.2:p.(Val508=)	NC_000019.9:g.15298774C>T	(Likely) benign	1 lab	3de8c7e6f8
2:112705056 MERTK G>A	2	112705056	112705056	G	A	MERTK	c.669G>A	NM_006343.3	NP_006334.2:p.(Pro223=)	NC_000002.11:g.112705056G>A	(Likely) benign	1 lab	3de9be65d3
3:30732925 TGFBR2 T>C	3	30732925	30732925	T	C	TGFBR2	c.1613T>C	NM_001024847.2	NP_001020018.1:p.(Val538Ala)	NC_000003.11:g.30732925T>C	VUS	1 lab	3dea912b02
17:66511747 PRKAR1A T>G	17	66511747	66511747	T	G	PRKAR1A	c.177+30T>G	NM_002734.5	NP_002725.1:p.?	NC_000017.10:g.66511747T>G	(Likely) benign	1 lab	3deb16c3ba
4:114275087 ANK2 G>A	4	114275087	114275087	G	A	ANK2	c.5313G>A	NM_001148.6	NP_001139.3:p.(Lys1771=)	NC_000004.11:g.114275087G>A	(Likely) benign	1 lab	3debe6cb23
20:25281468 ABHD12 C>A	20	25281468	25281468	C	A	ABHD12	c.*13G>T	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25281468C>A	VUS	1 lab	3df12b1d76
3:49723744 MST1 A>C	3	49723744	49723744	A	C	MST1	c.1016+2T>G	NM_020998.3	NP_066278.3:p.?	NC_000003.11:g.49723744A>C	(Likely) benign	1 lab	3df26e1ce4
6:16143321 MYLIP G>A	6	16143321	16143321	G	A	MYLIP	c.535G>A	NM_013262.4	NP_037394.2:p.(Val179Met)	NC_000006.11:g.16143321G>A	VUS	1 lab	3df283709b
7:128490585 FLNC C>T	7	128490585	128490585	C	T	FLNC	c.5398+48C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490585C>T	(Likely) benign	1 lab	3df40b3526
16:88500457 ZNF469 G>A	16	88500457	88500457	G	A	ZNF469	c.6579G>A	NM_001367624.2	NP_001354553.1:p.(Pro2193=)	NC_000016.9:g.88500457G>A	(Likely) benign	1 lab	3df59cf38a
15:44855394 SPG11 C>CTT	15	44855394	44855396	C	CTT	SPG11	c.7255_7256dup	NM_025137.4	NP_079413.3:p.(Phe2420SerfsTer6)	NC_000015.9:g.44855395_44855396dup	VUS	1 lab	3df627b9c5
8:1853758 ARHGEF10 T>A	8	1853758	1853758	T	A	ARHGEF10	c.1915T>A	NM_001308153.2	NP_001295082.1:p.(Tyr639Asn)	NC_000008.10:g.1853758T>A	VUS	1 lab	3df6a34ef8
18:45371695 SMAD2 A>G	18	45371695	45371695	A	G	SMAD2	c.1280+16T>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45371695A>G	(Likely) benign	1 lab	3df8712617
7:94056601 COL1A2 C>A	7	94056601	94056601	C	A	COL1A2	c.3261C>A	NM_000089.4	NP_000080.2:p.(Gly1087=)	NC_000007.13:g.94056601C>A	(Likely) benign	1 lab	3dfa627629
9:107580450 ABCA1 TAA>T	9	107580450	107580464	TAA	T	ABCA1	c.3462+492_3462+493del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580463_107580464del	(Likely) benign	1 lab	3dfb7ac28f
5:179260183 SQSTM1 C>T	5	179260183	179260183	C	T	SQSTM1	c.906C>T	NM_003900.5	NP_003891.1:p.(Gly302=)	NC_000005.9:g.179260183C>T	(Likely) benign	1 lab	3e04746fa9
3:38592987 SCN5A G>A	3	38592987	38592987	G	A	SCN5A	c.4876C>T	NM_198056.3	NP_932173.1:p.(Arg1626Cys)	NC_000003.11:g.38592987G>A	VUS	1 lab	3e09a6a888
2:167160739 SCN9A A>G	2	167160739	167160739	A	G	SCN9A	c.688+9T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167160739A>G	(Likely) benign	1 lab	3e0a7e0d1e
2:27305612 EMILIN1 G>T	2	27305612	27305612	G	T	EMILIN1	c.1173G>T	NM_007046.4	NP_008977.1:p.(Ala391=)	NC_000002.11:g.27305612G>T	(Likely) benign	1 lab	3e0c889251
2:171339701 MISSING T>Alt too long to show for this DUP	2	171339701	171720348	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.171339703_171720348dup	(Likely) pathogenic	1 lab	3e0d50fe71
3:53694259 CACNA1D C>T	3	53694259	53694259	C	T	CACNA1D	c.723C>T	NM_000720.4	NP_000711.1:p.(Ala241=)	NC_000003.11:g.53694259C>T	(Likely) benign	1 lab	3e147abadd
11:67226099 CABP4 CAG>C	11	67226099	67226103	CAG	C	CABP4	c.485_486del	NM_001300895.3	NP_001287824.1:p.(Glu162ValfsTer92)	NC_000011.9:g.67226102_67226103del	(Likely) pathogenic	1 lab	3e15be08b7
19:1397504 GAMT C>T	19	1397504	1397504	C	T	GAMT	c.571-6G>A	NM_000156.6	NP_000147.1:p.?	NC_000019.9:g.1397504C>T	(Likely) benign	1 lab	3e16bf714b
19:45412048 APOE GCTC>G	19	45412048	45412055	GCTC	G	APOE	c.578_580del	NM_001302688.2	NP_001289617.1:p.(Leu193del)	NC_000019.9:g.45412053_45412055del	(Likely) pathogenic	1 lab	3e1df63bfe
9:108536284 TMEM38B G>A	9	108536284	108536284	G	A	TMEM38B	c.799G>A	NM_018112.3	NP_060582.1:p.(Val267Ile)	NC_000009.11:g.108536284G>A	(Likely) benign	1 lab	3e1e4b023e
12:21377633 SLCO1B1 CATCTT>C	12	21377633	21377638	CATCTT	C	SLCO1B1	c.1748-22_1748-18del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21377634_21377638del	(Likely) benign	1 lab	3e1fb8aac0
2:170147449 LRP2 C>T	2	170147449	170147449	C	T	LRP2	c.828G>A	NM_004525.3	NP_004516.2:p.(Ser276=)	NC_000002.11:g.170147449C>T	(Likely) benign	1 lab	3e205dd551
8:88801751 MISSING Ref too long to show for this DEL>C	8	88801751	88998255	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.88801752_88998255del	VUS	1 lab	3e206c5558
17:4442247 MISSING G>Alt too long to show for this DUP	17	4442247	4511216	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.4442248_4511216dup	VUS	1 lab	3e25029496
19:11227914 LDLR A>C	19	11227914	11227914	A	C	LDLR	c.1845+240A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227914A>C	(Likely) benign	1 lab	3e2a94ee42
10:18828605 CACNB2 A>C	10	18828605	18828605	A	C	CACNB2	c.1770A>C	NM_000724.4	NP_000715.2:p.(Lys590Asn)	NC_000010.10:g.18828605A>C	VUS	1 lab	3e2b92705b
4:9217415 USP17L11 G>A	4	9217415	9217415	G	A	USP17L11	c.285G>A	NM_001256854.1	NP_001243783.1:p.(Leu95=)	NC_000004.11:g.9217415G>A	(Likely) benign	1 lab	3e2c1092cc
11:65314105 LTBP3 G>A	11	65314105	65314105	G	A	LTBP3	c.2231-70C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65314105G>A	(Likely) benign	1 lab	3e2ec66321
12:3649791 PRMT8 A>C	12	3649791	3649791	A	C	PRMT8	c.95A>C	NM_019854.5	NP_062828.3:p.(Gln32Pro)	NC_000012.11:g.3649791A>C	(Likely) benign	1 lab	3e2f94e9b8
15:48795770 FBN1 C>T	15	48795770	48795770	C	T	FBN1	c.2113+214G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48795770C>T	(Likely) benign	1 lab	3e32e29665
19:14590236 GIPC1 C>T	19	14590236	14590236	C	T	GIPC1	c.756G>A	NM_005716.4	NP_005707.1:p.(Thr252=)	NC_000019.9:g.14590236C>T	(Likely) benign	1 lab	3e34fd1e1b
7:103126772 RELN G>A	7	103126772	103126772	G	A	RELN	c.9855C>T	NM_005045.4	NP_005036.2:p.(Thr3285=)	NC_000007.13:g.103126772G>A	(Likely) benign	1 lab	3e35b7a257
10:90708675 ACTA2 C>G	10	90708675	90708675	C	G	ACTA2	c.13G>C	NM_001141945.2	NP_001135417.1:p.(Glu5Gln)	NC_000010.10:g.90708675C>G	VUS	1 lab	3e36e23d59
18:20902960 SLC35D4 Ref too long to show for this DEL>A	18	20902960	20960543	Ref too long to show for this DEL	A	SLC35D4	c.358-2904_766-13253del	NM_032933.6	NP_116322.3:p.?	NC_000018.9:g.20902965_20960543del	VUS	1 lab	3e37d8a452
X:38158323 RPGR G>A	X	38158323	38158323	G	A	RPGR	c.1131C>T	NM_001034853.2	NP_001030025.1:p.(Phe377=)	NC_000023.10:g.38158323G>A	(Likely) benign	1 lab	3e37de890a
14:79268085 NRXN3 Ref too long to show for this DEL>G	14	79268085	79587665	Ref too long to show for this DEL	G	NRXN3	c.2045-1875_3262+133181del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79268088_79587665del	(Likely) pathogenic	1 lab	3e39447311
3:38598548 SCN5A C>A	3	38598548	38598548	C	A	SCN5A	c.4299+174G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38598548C>A	(Likely) benign	1 lab	3e3aa1151a
17:29663820 NF1 C>T	17	29663820	29663820	C	T	NF1	c.6315C>T	NM_001042492.3	NP_001035957.1:p.(His2105=)	NC_000017.10:g.29663820C>T	(Likely) benign	1 lab	3e3accdb5d
22:51160412 SHANK3 C>T	22	51160412	51160412	C	T	SHANK3	c.4376C>T	NM_001372044.2	NP_001358973.1:p.(Thr1459Ile)	NC_000022.10:g.51160412C>T	VUS	1 lab	3e3c329c98
10:91007364 LIPA G>C	10	91007364	91007364	G	C	LIPA	c.42C>G	NM_000235.4	NP_000226.2:p.(Leu14=)	NC_000010.10:g.91007364G>C	(Likely) benign	1 lab	3e3d0b7e8c
2:204685634 MISSING Ref too long to show for this DEL>T	2	204685634	210820871	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.204685636_210820871del	(Likely) pathogenic	1 lab	3e3f347865
2:54870266 SPTBN1 G>A	2	54870266	54870266	G	A	SPTBN1	c.4005G>A	NM_003128.3	NP_003119.2:p.(Lys1335=)	NC_000002.11:g.54870266G>A	(Likely) benign	1 lab	3e45685f29
2:230661385 TRIP12 CAAAT>C	2	230661385	230661392	CAAAT	C	TRIP12	c.3734_3737del	NM_001348325.2	NP_001335254.1:p.(Tyr1245Ter)	NC_000002.11:g.230661389_230661392del	(Likely) pathogenic	1 lab	3e48c65087
X:144906400 SLITRK2 C>A	X	144906400	144906400	C	A	SLITRK2	c.2457C>A	NM_001144005.3	NP_001137477.1:p.(His819Gln)	NC_000023.10:g.144906400C>A	VUS	1 lab	3e49da4b87
2:179410245 TTN A>G	2	179410245	179410245	A	G	TTN	c.95592T>C	NM_001267550.2	NP_001254479.2:p.(Tyr31864=)	NC_000002.11:g.179410245A>G	(Likely) benign	1 lab	3e4a4c4144
2:202245944 TRAK2 TA>T	2	202245944	202245961	TA	T	TRAK2	c.2070-4del	NM_015049.3	NP_055864.2:p.?	NC_000002.11:g.202245961del	(Likely) benign	1 lab	3e4f6c392f
15:38643198 SPRED1 ATC>A	15	38643198	38643201	ATC	A	SPRED1	c.685-15_685-14del	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38643200_38643201del	(Likely) benign	1 lab	3e513f23bf
15:48787148 FBN1 A>G	15	48787148	48787148	A	G	FBN1	c.2677+172T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48787148A>G	(Likely) benign	1 lab	3e514e243b
1:63063465 ANGPTL3 C>A	1	63063465	63063465	C	A	ANGPTL3	c.228C>A	NM_014495.4	NP_055310.1:p.(Asn76Lys)	NC_000001.10:g.63063465C>A	VUS	1 lab	3e54f615fb
7:107569628 LAMB1 C>G	7	107569628	107569628	C	G	LAMB1	c.4768G>C	NM_002291.3	NP_002282.2:p.(Val1590Leu)	NC_000007.13:g.107569628C>G	VUS	1 lab	3e558962a6
18:47101962 LIPG T>C	18	47101962	47101962	T	C	LIPG	c.793+2T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47101962T>C	VUS	1 lab	3e57671772
5:113808769 KCNN2 C>G	5	113808769	113808769	C	G	KCNN2	c.1798C>G	NM_021614.4	NP_067627.3:p.(Leu600Val)	NC_000005.9:g.113808769C>G	(Likely) pathogenic	1 lab	3e5c2fbbca
7:92146932 PEX1 G>A	7	92146932	92146932	G	A	PEX1	c.273C>T	NM_001282678.2	NP_001269607.1:p.(Asn91=)	NC_000007.13:g.92146932G>A	(Likely) benign	1 lab	3e5ffbd839
15:58840718 LIPC G>T	15	58840718	58840718	G	T	LIPC	c.998G>T	NM_000236.3	NP_000227.2:p.(Arg333Leu)	NC_000015.9:g.58840718G>T	VUS	1 lab	3e60f6d48f
15:75649215 MAN2C1 G>A	15	75649215	75649215	G	A	MAN2C1	c.2627C>T	NM_001256494.2	NP_001243423.1:p.(Ser876Leu)	NC_000015.9:g.75649215G>A	VUS	1 lab	3e62158337
2:73651568 ALMS1 G>C	2	73651568	73651568	G	C	ALMS1	c.778G>C	NM_015120.4	NP_055935.4:p.(Asp260His)	NC_000002.11:g.73651568G>C	(Likely) benign	1 lab	3e65a9111f
1:237947552 RYR2 C>T	1	237947552	237947552	C	T	RYR2	c.12540C>T	NM_001035.3	NP_001026.2:p.(Gly4180=)	NC_000001.10:g.237947552C>T	(Likely) benign	1 lab	3e669a2b69
18:47091857 LIPG C>T	18	47091857	47091857	C	T	LIPG	c.268C>T	NM_006033.4	NP_006024.1:p.(His90Tyr)	NC_000018.9:g.47091857C>T	VUS	1 lab	3e671bec83
15:58837953 LIPC C>G	15	58837953	58837953	C	G	LIPC	c.587C>G	NM_000236.3	NP_000227.2:p.(Ala196Gly)	NC_000015.9:g.58837953C>G	VUS	1 lab	3e6801c39b
2:21230464 APOB C>T	2	21230464	21230464	C	T	APOB	c.9276G>A	NM_000384.3	NP_000375.3:p.(Arg3092=)	NC_000002.11:g.21230464C>T	(Likely) benign	1 lab	3e6ca19a97
4:120079232 MYOZ2 C>T	4	120079232	120079232	C	T	MYOZ2	c.302C>T	NM_016599.5	NP_057683.1:p.(Ser101Leu)	NC_000004.11:g.120079232C>T	VUS	1 lab	3e6d745ade
2:167269091 SCN7A CAGAG>C	2	167269091	167269095	CAGAG	C	SCN7A	c.3551_3554del	NM_002976.4	NP_002967.2:p.(Pro1184ArgfsTer4)	NC_000002.11:g.167269092_167269095del	VUS	1 lab	3e6db292fc
8:133899184 TG T>C	8	133899184	133899184	T	C	TG	c.1567T>C	NM_003235.5	NP_003226.4:p.(Ser523Pro)	NC_000008.10:g.133899184T>C	VUS	1 lab	3e6f2ef6c5
15:40322552 EIF2AK4 G>T	15	40322552	40322552	G	T	EIF2AK4	c.4562-8G>T	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40322552G>T	(Likely) benign	1 lab	3e7060b763
2:55561248 CCDC88A C>T	2	55561248	55561248	C	T	CCDC88A	c.2709G>A	NM_001135597.2	NP_001129069.1:p.(Thr903=)	NC_000002.11:g.55561248C>T	(Likely) benign	1 lab	3e71ba9d7d
14:24929446 MISSING A>Alt too long to show for this DUP	14	24929446	24987475	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.24929448_24987475dup	VUS	1 lab	3e72cca9a0
3:10094139 FANCD2 A>C	3	10094139	10094139	A	C	FANCD2	c.1614A>C	NM_033084.6	NP_149075.2:p.(Thr538=)	NC_000003.11:g.10094139A>C	(Likely) benign	1 lab	3e736f0dfd
7:155063500 MISSING C>Alt too long to show for this DUP	7	155063500	155784062	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.155063501_155784062dup	VUS	1 lab	3e7596aaeb
4:9227911 USP17L13 G>C	4	9227911	9227911	G	C	USP17L13	c.1290G>C	NM_001256855.1	NP_001243784.1:p.(Gln430His)	NC_000004.11:g.9227911G>C	(Likely) benign	1 lab	3e7a60238f
22:50665476 TUBGCP6 A>G	22	50665476	50665476	A	G	TUBGCP6	c.1443T>C	NM_020461.4	NP_065194.3:p.(Ala481=)	NC_000022.10:g.50665476A>G	(Likely) benign	1 lab	3e7e2aaf1a
3:193396760 MISSING Ref too long to show for this DEL>A	3	193396760	193733171	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.193396761_193733171del	VUS	1 lab	3e7efd9c2c
14:23900886 MYH7 C>T	14	23900886	23900886	C	T	MYH7	c.640G>A	NM_000257.4	NP_000248.2:p.(Gly214Ser)	NC_000014.8:g.23900886C>T	VUS	1 lab	3e819f99ff
5:178634704 ADAMTS2 T>C	5	178634704	178634704	T	C	ADAMTS2	c.701A>G	NM_014244.5	NP_055059.2:p.(Asp234Gly)	NC_000005.9:g.178634704T>C	(Likely) benign	1 lab	3e841e9ca1
19:15276755 NOTCH3 C>T	19	15276755	15276755	C	T	NOTCH3	c.5510G>A	NM_000435.3	NP_000426.2:p.(Arg1837His)	NC_000019.9:g.15276755C>T	(Likely) benign	1 lab	3e859392ed
4:114286357 ANK2 A>G	4	114286357	114286357	A	G	ANK2	c.11032+19A>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286357A>G	(Likely) benign	1 lab	3e880a1557
20:57429098 GNAS G>T	20	57429098	57429098	G	T	GNAS	c.778G>T	NM_080425.4	NP_536350.2:p.(Ala260Ser)	NC_000020.10:g.57429098G>T	(Likely) benign	1 lab	3e88e03ba1
15:57656169 MISSING T>Alt too long to show for this DUP	15	57656169	57686147	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.57656170_57686147dup	VUS	1 lab	3e8b749fa3
1:229568077 ACTA1 C>T	1	229568077	229568077	C	T	ACTA1	c.556G>A	NM_001100.4	NP_001091.1:p.(Asp186Asn)	NC_000001.10:g.229568077C>T	(Likely) pathogenic	1 lab	3e8b900e7b
X:114880423 PLS3 T>C	X	114880423	114880423	T	C	PLS3	c.1294T>C	NM_005032.7	NP_005023.2:p.(Leu432=)	NC_000023.10:g.114880423T>C	(Likely) benign	1 lab	3e8b9dc520
3:108179219 MYH15 CA>C	3	108179219	108179232	CA	C	MYH15	c.1925-6del	NM_014981.2	NP_055796.1:p.?	NC_000003.11:g.108179232del	(Likely) benign	1 lab	3e8fb40bf4
1:205496951 CDK18 C>T	1	205496951	205496951	C	T	CDK18	c.849C>T	NM_212503.3	NP_997668.1:p.(Leu283=)	NC_000001.10:g.205496951C>T	(Likely) benign	1 lab	3e9312f1e5
8:10469152 RP1L1 C>T	8	10469152	10469152	C	T	RP1L1	c.2456G>A	NM_178857.6	NP_849188.4:p.(Gly819Asp)	NC_000008.10:g.10469152C>T	(Likely) benign	1 lab	3e95a5690e
6:72596707 RIMS1 G>C	6	72596707	72596707	G	C	RIMS1	c.-20G>C	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72596707G>C	(Likely) benign	1 lab	3e9653e060
1:43224504 P3H1 G>C	1	43224504	43224504	G	C	P3H1	c.940+19C>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43224504G>C	(Likely) benign	1 lab	3e989f841b
9:111674590 ELP1 C>T	9	111674590	111674590	C	T	ELP1	c.1143G>A	NM_003640.5	NP_003631.2:p.(Val381=)	NC_000009.11:g.111674590C>T	(Likely) benign	1 lab	3e99ae8311
6:79668221 PHIP G>A	6	79668221	79668221	G	A	PHIP	c.3753C>T	NM_017934.7	NP_060404.4:p.(Phe1251=)	NC_000006.11:g.79668221G>A	(Likely) benign	1 lab	3e9bde993e
1:196682853 CFH C>T	1	196682853	196682853	C	T	CFH	c.1337-12C>T	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196682853C>T	(Likely) benign	1 lab	3e9c6d4628
7:128471009 FLNC C>G	7	128471009	128471009	C	G	FLNC	c.318C>G	NM_001458.5	NP_001449.3:p.(Phe106Leu)	NC_000007.13:g.128471009C>G	(Likely) benign	1 lab	3e9e626e2b
6:75841719 COL12A1 T>C	6	75841719	75841719	T	C	COL12A1	c.5874A>G	NM_004370.6	NP_004361.3:p.(Pro1958=)	NC_000006.11:g.75841719T>C	(Likely) benign	1 lab	3e9e8a77db
12:125279765 SCARB1 T>TAGAGGCTCAGCTGCAGTTTCACAGAGCAGTTCATGGGGATTCCCGTGA	12	125279765	125279813	T	TAGAGGCTCAGCTGCAGTTTCACAGAGCAGTTCATGGGGATTCCCGTGA	SCARB1	c.1130_1177dup	NM_005505.5	NP_005496.4:p.(Leu392_Tyr393insPheThrGlyIleProMetAsnCysSerValLysLeuGlnLeuSerLeu)	NC_000012.11:g.125279766_125279813dup	VUS	1 lab	3e9fd2ec89
10:73553149 CDH23 C>T	10	73553149	73553149	C	T	CDH23	c.6464C>T	NM_022124.6	NP_071407.4:p.(Ser2155Leu)	NC_000010.10:g.73553149C>T	VUS	1 lab	3ea2884035
14:45658588 FANCM A>T	14	45658588	45658588	A	T	FANCM	c.5340+23A>T	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45658588A>T	(Likely) benign	1 lab	3ea35dc0ff
2:21266737 APOB G>C	2	21266737	21266737	G	C	APOB	c.81C>G	NM_000384.3	NP_000375.3:p.(Ala27=)	NC_000002.11:g.21266737G>C	(Likely) benign	1 lab	3ea4abd391
1:94468019 ABCA4 G>A	1	94468019	94468019	G	A	ABCA4	c.6148-471C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94468019G>A	(Likely) pathogenic	1 lab	3ea502f47f
17:10558376 MYH3 A>G	17	10558376	10558376	A	G	MYH3	c.6T>C	NM_002470.4	NP_002461.2:p.(Ser2=)	NC_000017.10:g.10558376A>G	(Likely) benign	1 lab	3ea868b699
6:131904627 ARG1 A>C	6	131904627	131904627	A	C	ARG1	c.822A>C	NM_001244438.2	NP_001231367.1:p.(Lys274Asn)	NC_000006.11:g.131904627A>C	VUS	1 lab	3ea95aa038
1:24669459 GRHL3 C>G	1	24669459	24669459	C	G	GRHL3	c.1225C>G	NM_001195010.2	NP_001181939.1:p.(Pro409Ala)	NC_000001.10:g.24669459C>G	(Likely) benign	1 lab	3ea9e65a05
7:128480427 FLNC C>T	7	128480427	128480427	C	T	FLNC	c.1550-175C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480427C>T	(Likely) benign	1 lab	3eaba61846
2:189862520 COL3A1 T>C	2	189862520	189862520	T	C	COL3A1	c.1923+41T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862520T>C	(Likely) benign	1 lab	3eac4cc86b
3:38592892 SCN5A GAGGGCAGGC>G	3	38592892	38592905	GAGGGCAGGC	G	SCN5A	c.4962_4970del	NM_198056.3	NP_932173.1:p.(Pro1655_Leu1657del)	NC_000003.11:g.38592897_38592905del	(Likely) pathogenic	1 lab	3eadb247be
2:179397864 TTN A>T	2	179397864	179397864	A	T	TTN	c.103478T>A	NM_001267550.2	NP_001254479.2:p.(Val34493Glu)	NC_000002.11:g.179397864A>T	VUS	1 lab	3eb07b8370
10:48413957 GDF2 G>A	10	48413957	48413957	G	A	GDF2	c.911C>T	NM_016204.4	NP_057288.1:p.(Thr304Met)	NC_000010.10:g.48413957G>A	(Likely) benign	1 lab	3eb206fb94
9:107550758 ABCA1 G>A	9	107550758	107550758	G	A	ABCA1	c.6018C>T	NM_005502.4	NP_005493.2:p.(His2006=)	NC_000009.11:g.107550758G>A	(Likely) benign	1 lab	3eb534a6d7
7:73466285 ELN A>G	7	73466285	73466285	A	G	ELN	c.921A>G	NM_000501.4	NP_000492.2:p.(Ala307=)	NC_000007.13:g.73466285A>G	(Likely) benign	1 lab	3eb6bec7f3
17:57141759 TRIM37 C>A	17	57141759	57141759	C	A	TRIM37	c.817G>T	NM_001005207.5	NP_001005207.1:p.(Val273Leu)	NC_000017.10:g.57141759C>A	(Likely) benign	1 lab	3eb73a8ce9
11:71238741 KRTAP5-7 GTT>G	11	71238741	71238743	GTT	G	KRTAP5-7	c.396_397del	NM_001012503.2	NP_001012521.1:p.(Ser133LeufsTer21)	NC_000011.9:g.71238742_71238743del	(Likely) benign	1 lab	3eb7913a95
1:218578808 TGFB2 A>T	1	218578808	218578808	A	T	TGFB2	c.510+134A>T	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218578808A>T	(Likely) benign	1 lab	3eb84c0965
3:14180715 TMEM43 G>A	3	14180715	14180715	G	A	TMEM43	c.918G>A	NM_024334.3	NP_077310.1:p.(Met306Ile)	NC_000003.11:g.14180715G>A	VUS	1 lab	3ebb136d12
5:38481703 LIFR G>T	5	38481703	38481703	G	T	LIFR	c.3288C>A	NM_001127671.2	NP_001121143.1:p.(Asn1096Lys)	NC_000005.9:g.38481703G>T	(Likely) benign	1 lab	3ebba983c6
2:25387624 POMC G>A	2	25387624	25387624	G	A	POMC	c.18C>T	NM_001035256.3	NP_001030333.1:p.(Cys6=)	NC_000002.11:g.25387624G>A	(Likely) benign	1 lab	3ebdccd1a9
16:15851586 MYH11 T>C	16	15851586	15851586	T	C	MYH11	c.1596+98A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15851586T>C	(Likely) benign	1 lab	3ebe83c38c
6:118880117 PLN T>TA	6	118880117	118880118	T	TA	PLN	c.34dup	NM_002667.5	NP_002658.1:p.(Ile12AsnfsTer8)	NC_000006.11:g.118880118dup	(Likely) pathogenic	1 lab	3ebfa176f5
10:64575611 EGR2 C>A	10	64575611	64575611	C	A	EGR2	c.169+10G>T	NM_000399.5	NP_000390.2:p.?	NC_000010.10:g.64575611C>A	(Likely) benign	1 lab	3ec1ee50f7
19:55316471 KIR2DL4 T>A	19	55316471	55316471	T	A	KIR2DL4	c.300T>A	NM_001080772.2	NP_001074241.1:p.(Phe100Leu)	NC_000019.9:g.55316471T>A	(Likely) benign	1 lab	3ec2ae07df
6:110112693 FIG4 T>A	6	110112693	110112693	T	A	FIG4	c.2295T>A	NM_014845.6	NP_055660.1:p.(Asp765Glu)	NC_000006.11:g.110112693T>A	VUS	1 lab	3ec87a1864
3:57902639 SLMAP G>A	3	57902639	57902639	G	A	SLMAP	c.2043G>A	NM_007159.5	NP_009090.2:p.(Gln681=)	NC_000003.11:g.57902639G>A	(Likely) benign	1 lab	3eca6e2ef2
17:15134283 PMP22 A>AG	17	15134283	15134288	A	AG	PMP22	c.433dup	NM_000304.4	NP_000295.1:p.(Leu145ProfsTer78)	NC_000017.10:g.15134288dup	(Likely) pathogenic	1 lab	3ecb002a52
6:75823305 COL12A1 TA>T	6	75823305	75823310	TA	T	COL12A1	c.7840+12del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75823310del	(Likely) benign	1 lab	3ecbffcb85
5:13882836 DNAH5 C>T	5	13882836	13882836	C	T	DNAH5	c.3262+1G>A	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13882836C>T	(Likely) pathogenic	1 lab	3ed708ef96
17:8192133 SLC25A35 G>C	17	8192133	8192133	G	C	SLC25A35	c.*801C>G	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192133G>C	(Likely) benign	1 lab	3ed864b32d
19:18902057 COMP C>T	19	18902057	18902057	C	T	COMP	c.22G>A	NM_000095.3	NP_000086.2:p.(Val8Ile)	NC_000019.9:g.18902057C>T	VUS	1 lab	3eda640891
16:57012084 CETP G>A	16	57012084	57012084	G	A	CETP	c.1063G>A	NM_000078.3	NP_000069.2:p.(Val355Ile)	NC_000016.9:g.57012084G>A	VUS	1 lab	3edada856b
14:23896892 MYH7 T>C	14	23896892	23896892	T	C	MYH7	c.1790A>G	NM_000257.4	NP_000248.2:p.(Asn597Ser)	NC_000014.8:g.23896892T>C	VUS	1 lab	3edca6eef6
7:94033573 COL1A2 A>G	7	94033573	94033573	A	G	COL1A2	c.280-295A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94033573A>G	(Likely) benign	1 lab	3edcb57b64
17:65822067 BPTF AGCC>A	17	65822067	65822086	AGCC	A	BPTF	c.244_246del	NM_182641.4	NP_872579.2:p.(Pro82del)	NC_000017.10:g.65822084_65822086del	(Likely) benign	1 lab	3edcf28ed1
2:21242627 APOB G>A	2	21242627	21242627	G	A	APOB	c.2967C>T	NM_000384.3	NP_000375.3:p.(Ser989=)	NC_000002.11:g.21242627G>A	(Likely) benign	1 lab	3eddd1d46d
7:154876058 HTR5A C>T	7	154876058	154876058	C	T	HTR5A	c.935C>T	NM_024012.4	NP_076917.1:p.(Ser312Phe)	NC_000007.13:g.154876058C>T	VUS	1 lab	3ee1b595a4
9:107607784 ABCA1 G>C	9	107607784	107607784	G	C	ABCA1	c.787C>G	NM_005502.4	NP_005493.2:p.(His263Asp)	NC_000009.11:g.107607784G>C	VUS	1 lab	3ee285fb9d
7:116411586 MET A>G	7	116411586	116411586	A	G	MET	c.2819A>G	NM_001127500.3	NP_001120972.1:p.(Lys940Arg)	NC_000007.13:g.116411586A>G	(Likely) benign	1 lab	3ee651e728
3:24270412 THRB T>TA	3	24270412	24270423	T	TA	THRB	c.22+16dup	NM_001252634.2	NP_001239563.1:p.?	NC_000003.11:g.24270423dup	(Likely) benign	1 lab	3ee8019fd4
X:153588641 FLNA G>A	X	153588641	153588641	G	A	FLNA	c.3522C>T	NM_001110556.2	NP_001104026.1:p.(Thr1174=)	NC_000023.10:g.153588641G>A	(Likely) benign	1 lab	3ee9f5f66b
1:94474428 ABCA4 C>G	1	94474428	94474428	C	G	ABCA4	c.5715-1G>C	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94474428C>G	(Likely) pathogenic	1 lab	3eee16b754
16:943048 LMF1 G>A	16	943048	943048	G	A	LMF1	c.289C>T	NM_001352018.2	NP_001338947.1:p.(Arg97Trp)	NC_000016.9:g.943048G>A	VUS	1 lab	3eef55cce4
1:213032073 FLVCR1 C>T	1	213032073	213032073	C	T	FLVCR1	c.279C>T	NM_014053.4	NP_054772.1:p.(Ala93=)	NC_000001.10:g.213032073C>T	(Likely) benign	1 lab	3eefe6877b
5:37173964 CPLANE1 C>G	5	37173964	37173964	C	G	CPLANE1	c.6064G>C	NM_023073.4	NP_075561.3:p.(Ala2022Pro)	NC_000005.9:g.37173964C>G	(Likely) benign	1 lab	3ef0412d31
16:67977903 LCAT C>T	16	67977903	67977903	C	T	LCAT	c.102G>A	NM_000229.2	NP_000220.1:p.(Pro34=)	NC_000016.9:g.67977903C>T	(Likely) benign	1 lab	3ef086750d
1:35251219 GJB3 C>A	1	35251219	35251219	C	A	GJB3	c.*43C>A	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251219C>A	(Likely) benign	1 lab	3ef1f36aa4
15:100554835 ADAMTS17 C>T	15	100554835	100554835	C	T	ADAMTS17	c.2592-17041G>A	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100554835C>T	(Likely) benign	1 lab	3ef2893fc8
12:112036753 ATXN2 GGCT>G	12	112036753	112036781	GGCT	G	ATXN2	c.83_85del	NM_002973.4	NP_002964.4:p.(Gln28del)	NC_000012.11:g.112036779_112036781del	(Likely) benign	1 lab	3ef4e27e71
9:113163239 SVEP1 A>C	9	113163239	113163239	A	C	SVEP1	c.9717T>G	NM_153366.4	NP_699197.3:p.(Val3239=)	NC_000009.11:g.113163239A>C	(Likely) benign	1 lab	3ef5e7796e
19:11218141 LDLR C>T	19	11218141	11218141	C	T	LDLR	c.891C>T	NM_000527.5	NP_000518.1:p.(Asn297=)	NC_000019.9:g.11218141C>T	(Likely) benign	1 lab	3ef643d228
21:45751873 CFAP410 C>T	21	45751873	45751873	C	T	CFAP410	c.398G>A	NM_001271441.2	NP_001258370.1:p.(Arg133His)	NC_000021.8:g.45751873C>T	(Likely) benign	1 lab	3ef94c730d
6:80223466 LCA5 AG>A	6	80223466	80223467	AG	A	LCA5	c.191-9del	NM_181714.4	NP_859065.2:p.?	NC_000006.11:g.80223467del	(Likely) benign	1 lab	3efffe62a0
1:161276566 MPZ C>T	1	161276566	161276566	C	T	MPZ	c.380G>A	NM_000530.8	NP_000521.2:p.(Cys127Tyr)	NC_000001.10:g.161276566C>T	(Likely) pathogenic	1 lab	3f01b5dc13
2:21246466 APOB C>A	2	21246466	21246466	C	A	APOB	c.2535G>T	NM_000384.3	NP_000375.3:p.(Gln845His)	NC_000002.11:g.21246466C>A	(Likely) benign	1 lab	3f0523f980
3:193363572 OPA1 G>C	3	193363572	193363572	G	C	OPA1	c.1737G>C	NM_130837.3	NP_570850.2:p.(Gln579His)	NC_000003.11:g.193363572G>C	VUS	1 lab	3f05cddb97
12:118105448 KSR2 G>T	12	118105448	118105448	G	T	KSR2	c.1002C>A	NM_173598.6	NP_775869.4:p.(Ser334Arg)	NC_000012.11:g.118105448G>T	VUS	1 lab	3f0a172a91
20:10388385 MKKS AC>A	20	10388385	10388388	AC	A	MKKS	c.1162-12del	NM_018848.3	NP_061336.1:p.?	NC_000020.10:g.10388388del	(Likely) benign	1 lab	3f111c3b5d
15:85399419 ALPK3 G>T	15	85399419	85399419	G	T	ALPK3	c.1654-204G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85399419G>T	(Likely) benign	1 lab	3f17285d00
4:85752584 WDFY3 C>T	4	85752584	85752584	C	T	WDFY3	c.751G>A	NM_014991.6	NP_055806.2:p.(Val251Ile)	NC_000004.11:g.85752584C>T	VUS	1 lab	3f17adb3dc
1:879422 SAMD11 G>A	1	879422	879422	G	A	SAMD11	c.2427G>A	NM_001385640.1	NP_001372569.1:p.(Thr809=)	NC_000001.10:g.879422G>A	(Likely) benign	1 lab	3f189ad6c8
21:33941298 MISSING Ref too long to show for this DEL>C	21	33941298	38528675	Ref too long to show for this DEL	C	MISSING				NC_000021.8:g.33941300_38528675del	(Likely) pathogenic	1 lab	3f1a5dcb9d
2:189868441 COL3A1 A>C	2	189868441	189868441	A	C	COL3A1	c.2608-19A>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189868441A>C	(Likely) benign	1 lab	3f1b0152ef
12:57432786 MYO1A C>T	12	57432786	57432786	C	T	MYO1A	c.1340G>A	NM_001256041.2	NP_001242970.1:p.(Arg447Gln)	NC_000012.11:g.57432786C>T	(Likely) benign	1 lab	3f1b4f999e
15:85402490 ALPK3 G>C	15	85402490	85402490	G	C	ALPK3	c.3834G>C	NM_020778.5	NP_065829.4:p.(Arg1278=)	NC_000015.9:g.85402490G>C	(Likely) benign	1 lab	3f1bf637e4
16:88901844 GALNS C>T	16	88901844	88901844	C	T	GALNS	c.777-84G>A	NM_001323544.2	NP_001310473.1:p.?	NC_000016.9:g.88901844C>T	(Likely) benign	1 lab	3f212f549a
16:16305475 MISSING Ref too long to show for this DEL>T	16	16305475	16847903	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.16305477_16847903del	VUS	1 lab	3f2427fc7e
15:94233909 MISSING Ref too long to show for this DEL>A	15	94233909	102465356	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.94233911_102465356del	(Likely) pathogenic	1 lab	3f2646ca2d
2:21229001 APOB T>C	2	21229001	21229001	T	C	APOB	c.10739A>G	NM_000384.3	NP_000375.3:p.(Asn3580Ser)	NC_000002.11:g.21229001T>C	VUS	1 lab	3f27f61e32
1:78395050 NEXN A>G	1	78395050	78395050	A	G	NEXN	c.914A>G	NM_144573.4	NP_653174.3:p.(Tyr305Cys)	NC_000001.10:g.78395050A>G	VUS	1 lab	3f2809728a
18:47109938 LIPG C>T	18	47109938	47109938	C	T	LIPG	c.1170C>T	NM_006033.4	NP_006024.1:p.(Ile390=)	NC_000018.9:g.47109938C>T	(Likely) benign	1 lab	3f2917cbc0
2:121726501 GLI2 G>A	2	121726501	121726501	G	A	GLI2	c.845+10G>A	NM_005270.5	NP_005261.2:p.?	NC_000002.11:g.121726501G>A	(Likely) benign	1 lab	3f29c0afe1
9:100616430 FOXE1 C>T	9	100616430	100616430	C	T	FOXE1	c.234C>T	NM_004473.4	NP_004464.2:p.(Gly78=)	NC_000009.11:g.100616430C>T	(Likely) benign	1 lab	3f2ab2c9d4
8:1881984 ARHGEF10 A>G	8	1881984	1881984	A	G	ARHGEF10	c.3170A>G	NM_001308153.2	NP_001295082.1:p.(Glu1057Gly)	NC_000008.10:g.1881984A>G	(Likely) benign	1 lab	3f2cae2fcd
2:5833426 SOX11 C>A	2	5833426	5833426	C	A	SOX11	c.573C>A	NM_003108.4	NP_003099.1:p.(Tyr191Ter)	NC_000002.11:g.5833426C>A	(Likely) pathogenic	1 lab	3f2ef59a0c
10:112540528 RBM20 G>A	10	112540528	112540528	G	A	RBM20	c.192-31G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112540528G>A	(Likely) benign	1 lab	3f306b982d
7:91746446 CYP51A1 C>T	7	91746446	91746446	C	T	CYP51A1	c.1263G>A	NM_000786.4	NP_000777.1:p.(Trp421Ter)	NC_000007.13:g.91746446C>T	(Likely) pathogenic	1 lab	3f31323850
14:81610498 TSHR G>A	14	81610498	81610498	G	A	TSHR	c.2096G>A	NM_000369.5	NP_000360.2:p.(Cys699Tyr)	NC_000014.8:g.81610498G>A	VUS	1 lab	3f4d338da9
6:42689590 PRPH2 G>A	6	42689590	42689590	G	A	PRPH2	c.483C>T	NM_000322.5	NP_000313.2:p.(Ile161=)	NC_000006.11:g.42689590G>A	(Likely) benign	1 lab	3f33762ae7
22:50678683 TUBGCP6 G>A	22	50678683	50678683	G	A	TUBGCP6	c.855C>T	NM_020461.4	NP_065194.3:p.(Ala285=)	NC_000022.10:g.50678683G>A	(Likely) benign	1 lab	3f343f7d8c
16:88497523 ZNF469 C>A	16	88497523	88497523	C	A	ZNF469	c.3645C>A	NM_001367624.2	NP_001354553.1:p.(Thr1215=)	NC_000016.9:g.88497523C>A	(Likely) benign	1 lab	3f3c4387b3
11:75905782 WNT11 G>A	11	75905782	75905782	G	A	WNT11	c.426C>T	NM_004626.3	NP_004617.2:p.(Pro142=)	NC_000011.9:g.75905782G>A	(Likely) benign	1 lab	3f3ec92630
8:1905361 ARHGEF10 C>G	8	1905361	1905361	C	G	ARHGEF10	c.3967C>G	NM_014629.4	NP_055444.2:p.(Arg1323Gly)	NC_000008.10:g.1905361C>G	VUS	1 lab	3f40650db8
20:18022242 OVOL2 G>T	20	18022242	18022242	G	T	OVOL2	c.447C>A	NM_021220.4	NP_067043.2:p.(Cys149Ter)	NC_000020.10:g.18022242G>T	VUS	1 lab	3f4086f649
3:14177328 TMEM43 C>T	3	14177328	14177328	C	T	TMEM43	c.802C>T	NM_024334.3	NP_077310.1:p.(Arg268Trp)	NC_000003.11:g.14177328C>T	VUS	1 lab	3f416e6b74
2:179616052 TTN C>G	2	179616052	179616052	C	G	TTN	c.11075G>C	NM_133379.5	NP_596870.2:p.(Ser3692Thr)	NC_000002.11:g.179616052C>G	(Likely) benign	1 lab	3f4282c320
3:33165884 CRTAP T>C	3	33165884	33165884	T	C	CRTAP	c.622-16T>C	NM_006371.5	NP_006362.1:p.?	NC_000003.11:g.33165884T>C	(Likely) benign	1 lab	3f532681de
2:47635643 MSH2 T>C	2	47635643	47635643	T	C	MSH2	c.315T>C	NM_000251.3	NP_000242.1:p.(Asn105=)	NC_000002.11:g.47635643T>C	(Likely) benign	1 lab	3f53e5fa6f
6:56374544 DST G>A	6	56374544	56374544	G	A	DST	c.12551C>T	NM_001144769.5	NP_001138241.1:p.(Ser4184Leu)	NC_000006.11:g.56374544G>A	VUS	1 lab	3f54737ee3
19:36212119 KMT2B G>C	19	36212119	36212119	G	C	KMT2B	c.1870G>C	NM_014727.3	NP_055542.1:p.(Ala624Pro)	NC_000019.9:g.36212119G>C	(Likely) benign	1 lab	3f5870f68f
7:91603147 AKAP9 T>C	7	91603147	91603147	T	C	AKAP9	c.171T>C	NM_005751.5	NP_005742.4:p.(Ile57=)	NC_000007.13:g.91603147T>C	(Likely) benign	1 lab	3f58f756bc
2:21232811 APOB A>G	2	21232811	21232811	A	G	APOB	c.6929T>C	NM_000384.3	NP_000375.3:p.(Ile2310Thr)	NC_000002.11:g.21232811A>G	(Likely) benign	1 lab	3f61a176a6
2:179622358 TTN T>A	2	179622358	179622358	T	A	TTN	c.10589A>T	NM_001267550.2	NP_001254479.2:p.(Tyr3530Phe)	NC_000002.11:g.179622358T>A	VUS	1 lab	3f62a99fa1
14:96730361 BDKRB1 C>T	14	96730361	96730361	C	T	BDKRB1	c.342C>T	NM_000710.4	NP_000701.2:p.(Asn114=)	NC_000014.8:g.96730361C>T	(Likely) benign	1 lab	3f63617385
2:44052174 ABCG5 C>T	2	44052174	44052174	C	T	ABCG5	c.775-17G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052174C>T	(Likely) benign	1 lab	3f6400a3b5
2:44104966 ABCG8 A>G	2	44104966	44104966	A	G	ABCG8	c.1936A>G	NM_022437.3	NP_071882.1:p.(Ile646Val)	NC_000002.11:g.44104966A>G	VUS	1 lab	3f64fabc48
X:107978051 IRS4 A>T	X	107978051	107978051	A	T	IRS4	c.1524T>A	NM_003604.2	NP_003595.1:p.(Asn508Lys)	NC_000023.10:g.107978051A>T	(Likely) benign	1 lab	3f6617e30f
16:81348869 GAN G>C	16	81348869	81348869	G	C	GAN	c.151G>C	NM_022041.4	NP_071324.1:p.(Ala51Pro)	NC_000016.9:g.81348869G>C	(Likely) pathogenic	1 lab	3f67a176bf
8:27316695 MISSING T>Alt too long to show for this DUP	8	27316695	27407843	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.27316697_27407843dup	VUS	1 lab	3f6840f8d5
16:75675609 KARS1 T>C	16	75675609	75675609	T	C	KARS1	c.159A>G	NM_001130089.2	NP_001123561.1:p.(Arg53=)	NC_000016.9:g.75675609T>C	(Likely) benign	1 lab	3f6af2bde0
9:91963136 SECISBP2 A>C	9	91963136	91963136	A	C	SECISBP2	c.1534+7A>C	NM_001282690.1	NP_001269619.1:p.?	NC_000009.11:g.91963136A>C	(Likely) benign	1 lab	3f6b4a9da5
1:75102064 ERICH3 G>Alt too long to show for this DUP	1	75102064	75110125	G	Alt too long to show for this DUP	ERICH3	c.244-1343_502dup	NM_001002912.5	NP_001002912.4:p.?	NC_000001.10:g.75102065_75110125dup	VUS	1 lab	3f6eb5c115
9:135202373 SETX G>A	9	135202373	135202373	G	A	SETX	c.4612C>T	NM_001351527.2	NP_001338456.1:p.(Arg1538Trp)	NC_000009.11:g.135202373G>A	VUS	1 lab	3f72298eb3
X:119589237 LAMP2 T>C	X	119589237	119589237	T	C	LAMP2	c.372A>G	NM_002294.3	NP_002285.1:p.(Thr124=)	NC_000023.10:g.119589237T>C	(Likely) benign	1 lab	3f73551b8f
2:1457610 TPO C>T	2	1457610	1457610	C	T	TPO	c.612+15C>T	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1457610C>T	(Likely) benign	1 lab	3f74c201a4
11:13498770 MISSING Ref too long to show for this DEL>A	11	13498770	13514430	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.13498771_13514430del	VUS	1 lab	3f76675914
16:88505536 ZNF469 G>C	16	88505536	88505536	G	C	ZNF469	c.11658G>C	NM_001367624.2	NP_001354553.1:p.(Gln3886His)	NC_000016.9:g.88505536G>C	(Likely) benign	1 lab	3f76714e12
17:66423352 PRKAR1A G>A	17	66423352	66423352	G	A	PRKAR1A	c.-7+13416G>A	NM_001278433.2	NP_001265362.1:p.?	NC_000017.10:g.66423352G>A	(Likely) benign	1 lab	3f7df891fd
11:68702890 IGHMBP2 G>T	11	68702890	68702890	G	T	IGHMBP2	c.1756G>T	NM_002180.3	NP_002171.2:p.(Gly586Cys)	NC_000011.9:g.68702890G>T	(Likely) pathogenic	1 lab	3f7ff74335
7:128484462 FLNC C>G	7	128484462	128484462	C	G	FLNC	c.3192+142C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128484462C>G	(Likely) benign	1 lab	3f855838cf
2:179613119 TTN C>T	2	179613119	179613119	C	T	TTN	c.14008G>A	NM_133379.5	NP_596870.2:p.(Val4670Ile)	NC_000002.11:g.179613119C>T	(Likely) benign	1 lab	3f883589e7
4:190876301 FRG1 C>A	4	190876301	190876301	C	A	FRG1	c.427C>A	NM_004477.3	NP_004468.1:p.(Gln143Lys)	NC_000004.11:g.190876301C>A	(Likely) benign	1 lab	3f89b9bf8f
7:66520704 MISSING T>Alt too long to show for this DUP	7	66520704	66730667	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.66520705_66730667dup	VUS	1 lab	3f8e771361
16:70371291 MISSING T>Alt too long to show for this DUP	16	70371291	70398722	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70371294_70398722dup	VUS	1 lab	3f8f42f158
22:26936848 TPST2 T>C	22	26936848	26936848	T	C	TPST2	c.749A>G	NM_001008566.3	NP_001008566.1:p.(Lys250Arg)	NC_000022.10:g.26936848T>C	(Likely) benign	1 lab	3f92fc7ee0
5:133948456 SAR1B A>G	5	133948456	133948456	A	G	SAR1B	c.179-10T>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948456A>G	(Likely) benign	1 lab	3f93113ce6
2:179641981 TTN C>G	2	179641981	179641981	C	G	TTN	c.4709G>C	NM_001267550.2	NP_001254479.2:p.(Gly1570Ala)	NC_000002.11:g.179641981C>G	VUS	1 lab	3f936e98cd
3:123167307 ADCY5 C>A	3	123167307	123167307	C	A	ADCY5	c.86G>T	NM_183357.3	NP_899200.1:p.(Arg29Leu)	NC_000003.11:g.123167307C>A	VUS	1 lab	3f9472ebd9
17:60060082 MED13 G>T	17	60060082	60060082	G	T	MED13	c.3282C>A	NM_005121.3	NP_005112.2:p.(Cys1094Ter)	NC_000017.10:g.60060082G>T	(Likely) pathogenic	1 lab	3f96098cf6
1:97839116 DPYD C>A	1	97839116	97839116	C	A	DPYD	c.2058+1G>T	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.97839116C>A	VUS	1 lab	3f99dab4c1
10:73569598 CDH23 G>A	10	73569598	73569598	G	A	CDH23	c.8744G>A	NM_022124.6	NP_071407.4:p.(Arg2915His)	NC_000010.10:g.73569598G>A	VUS	1 lab	3f9a44fb3d
13:32950812 BRCA2 A>G	13	32950812	32950812	A	G	BRCA2	c.8638A>G	NM_000059.4	NP_000050.3:p.(Thr2880Ala)	NC_000013.10:g.32950812A>G	(Likely) benign	1 lab	3f9c6271fc
21:47406936 COL6A1 G>A	21	47406936	47406936	G	A	COL6A1	c.667G>A	NM_001848.3	NP_001839.2:p.(Asp223Asn)	NC_000021.8:g.47406936G>A	VUS	1 lab	3f9db5859d
8:133945543 TG T>TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	8	133945543	133945561	T	TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	TG	c.4817-246_4817-245insTTGGAGCTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133945560_133945561insTTGGAGCTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	(Likely) benign	1 lab	3f9e83f361
9:107588033 ABCA1 C>T	9	107588033	107588033	C	T	ABCA1	c.2473G>A	NM_005502.4	NP_005493.2:p.(Val825Ile)	NC_000009.11:g.107588033C>T	(Likely) benign	1 lab	3fa0e000e1
3:184033346 EIF4G1 T>A	3	184033346	184033346	T	A	EIF4G1	c.-35+13T>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184033346T>A	(Likely) benign	1 lab	3fa101d32f
14:21756185 RPGRIP1 T>C	14	21756185	21756185	T	C	RPGRIP1	c.50T>C	NM_020366.4	NP_065099.3:p.(Ile17Thr)	NC_000014.8:g.21756185T>C	(Likely) benign	1 lab	3fa144a642
17:4802543 CHRNE C>G	17	4802543	4802543	C	G	CHRNE	c.1169G>C	NM_000080.4	NP_000071.1:p.(Arg390Pro)	NC_000017.10:g.4802543C>G	VUS	1 lab	3fa28f9700
6:84791758 MRAP2 Ref too long to show for this DEL>A	6	84791758	84811180	Ref too long to show for this DEL	A	MRAP2				NC_000006.11:g.84791760_84811180del	VUS	1 lab	3fa2da5d08
X:48762368 SLC35A2 C>T	X	48762368	48762368	C	T	SLC35A2	c.818G>A	NM_001042498.3	NP_001035963.1:p.(Gly273Asp)	NC_000023.10:g.48762368C>T	(Likely) pathogenic	1 lab	3fa9838d2c
5:38510603 LIFR G>A	5	38510603	38510603	G	A	LIFR	c.954C>T	NM_001127671.2	NP_001121143.1:p.(Thr318=)	NC_000005.9:g.38510603G>A	(Likely) benign	1 lab	3faeac3210
1:5923476 NPHP4 G>A	1	5923476	5923476	G	A	NPHP4	c.4141-11C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5923476G>A	(Likely) benign	1 lab	3faf640789
14:102508406 DYNC1H1 A>T	14	102508406	102508406	A	T	DYNC1H1	c.12159A>T	NM_001376.5	NP_001367.2:p.(Gly4053=)	NC_000014.8:g.102508406A>T	(Likely) benign	1 lab	3fb371fc43
1:45796910 MUTYH G>A	1	45796910	45796910	G	A	MUTYH	c.1420C>T	NM_001128425.2	NP_001121897.1:p.(Arg474Cys)	NC_000001.10:g.45796910G>A	VUS	1 lab	3fb4bef8fa
2:74593163 DCTN1 G>A	2	74593163	74593163	G	A	DCTN1	c.2761-18C>T	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74593163G>A	(Likely) benign	1 lab	3fb5043bba
8:133984840 TG C>T	8	133984840	133984840	C	T	TG	c.6056-3C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133984840C>T	(Likely) benign	1 lab	3fb9fe97cd
3:52485751 TNNC1 C>T	3	52485751	52485751	C	T	TNNC1	c.317+9G>A	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52485751C>T	(Likely) benign	1 lab	3fbe7a6123
12:100151946 ANKS1B Ref too long to show for this DEL>C	12	100151946	100178907	Ref too long to show for this DEL	C	ANKS1B	c.670-3032_1128+14753del	NM_001352186.2	NP_001339115.1:p.?	NC_000012.11:g.100151947_100178907del	VUS	1 lab	3fc07a3ed9
19:11213148 LDLR A>G	19	11213148	11213148	A	G	LDLR	c.191-192A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213148A>G	(Likely) benign	1 lab	3fc3ab8834
3:38603775 SCN5A C>T	3	38603775	38603775	C	T	SCN5A	c.3963+131G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38603775C>T	(Likely) benign	1 lab	3fc4366d52
7:150654572 KCNH2 C>T	7	150654572	150654572	C	T	KCNH2	c.935G>A	NM_000238.4	NP_000229.1:p.(Arg312His)	NC_000007.13:g.150654572C>T	VUS	1 lab	3fc729d1b9
18:31326005 ASXL3 AAG>A	18	31326005	31326010	AAG	A	ASXL3	c.6197_6198del	NM_030632.3	NP_085135.1:p.(Arg2066ThrfsTer2)	NC_000018.9:g.31326009_31326010del	(Likely) pathogenic	1 lab	3fc87e71d9
6:75893694 COL12A1 C>T	6	75893694	75893694	C	T	COL12A1	c.1164G>A	NM_004370.6	NP_004361.3:p.(Thr388=)	NC_000006.11:g.75893694C>T	(Likely) benign	1 lab	3fc9fc8876
18:5057272 MISSING T>Alt too long to show for this DUP	18	5057272	5306392	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.5057274_5306392dup	VUS	1 lab	3fcce49411
1:197390991 CRB1 G>A	1	197390991	197390991	G	A	CRB1	c.1826G>A	NM_001257965.2	NP_001244894.1:p.(Ser609Asn)	NC_000001.10:g.197390991G>A	VUS	1 lab	3fce833fbe
4:100518283 MTTP T>C	4	100518283	100518283	T	C	MTTP	c.969T>C	NM_000253.4	NP_000244.2:p.(Ala323=)	NC_000004.11:g.100518283T>C	(Likely) benign	1 lab	3fcf1fe199
2:21232175 APOB C>T	2	21232175	21232175	C	T	APOB	c.7565G>A	NM_000384.3	NP_000375.3:p.(Arg2522Gln)	NC_000002.11:g.21232175C>T	VUS	1 lab	3fcfdcb5b6
10:61830957 ANK3 C>G	10	61830957	61830957	C	G	ANK3	c.9682G>C	NM_020987.5	NP_066267.2:p.(Val3228Leu)	NC_000010.10:g.61830957C>G	(Likely) benign	1 lab	3fd005aa15
17:41209105 BRCA1 T>G	17	41209105	41209105	T	G	BRCA1	c.5241A>C	NM_007294.4	NP_009225.1:p.(Gln1747His)	NC_000017.10:g.41209105T>G	(Likely) benign	1 lab	3fd613b5b0
16:88500468 ZNF469 C>T	16	88500468	88500468	C	T	ZNF469	c.6590C>T	NM_001367624.2	NP_001354553.1:p.(Pro2197Leu)	NC_000016.9:g.88500468C>T	(Likely) benign	1 lab	3fd635816b
18:47088663 LIPG G>A	18	47088663	47088663	G	A	LIPG	c.-16G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088663G>A	VUS	1 lab	3fd70b44af
11:17523513 USH1C A>G	11	17523513	17523513	A	G	USH1C	c.2199T>C	NM_153676.4	NP_710142.1:p.(Tyr733=)	NC_000011.9:g.17523513A>G	(Likely) benign	1 lab	3fdb4d263b
9:39078814 CNTNAP3 C>A	9	39078814	39078814	C	A	CNTNAP3	c.3546G>T	NM_033655.5	NP_387504.2:p.(Ala1182=)	NC_000009.11:g.39078814C>A	(Likely) benign	1 lab	3fdd8bc410
3:33093190 GLB1 T>C	3	33093190	33093190	T	C	GLB1	c.1099+60A>G	NM_001317040.2	NP_001303969.2:p.?	NC_000003.11:g.33093190T>C	(Likely) benign	1 lab	3fde1ff74d
4:55598211 KIT AT>A	4	55598211	55598236	AT	A	KIT	c.2361+72del	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55598236del	(Likely) benign	1 lab	3fdf755537
2:44051536 ABCG5 G>A	2	44051536	44051536	G	A	ABCG5	c.940C>T	NM_022436.3	NP_071881.1:p.(Arg314Trp)	NC_000002.11:g.44051536G>A	VUS	1 lab	3fe0370d6b
7:154595554 DPP6 G>T	7	154595554	154595554	G	T	DPP6	c.1408-20G>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154595554G>T	(Likely) benign	1 lab	3fe5871e90
1:53707951 LRP8 Ref too long to show for this DEL>A	1	53707951	53733413	Ref too long to show for this DEL	A	LRP8				NC_000001.10:g.53707954_53733413del	VUS	1 lab	3fe5a9f12d
17:7578162 TP53 A>G	17	7578162	7578162	A	G	TP53	c.672+15T>C	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7578162A>G	(Likely) benign	1 lab	3fe5d8d57e
6:137147581 PEX7 C>A	6	137147581	137147581	C	A	PEX7	c.313C>A	NM_000288.4	NP_000279.1:p.(Gln105Lys)	NC_000006.11:g.137147581C>A	(Likely) benign	1 lab	3fe65e98e4
2:179578763 TTN G>A	2	179578763	179578763	G	A	TTN	c.26622C>T	NM_001267550.2	NP_001254479.2:p.(Asn8874=)	NC_000002.11:g.179578763G>A	(Likely) benign	1 lab	3fe6b02b84
X:14006680 MISSING C>Alt too long to show for this DUP	X	14006680	14128600	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.14006683_14128600dup	VUS	1 lab	3fe6c2c1bb
2:179511767 TTN G>GTATATATATA	2	179511767	179511789	G	GTATATATATA	TTN	c.40222+14_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511780_179511789dup	(Likely) benign	1 lab	3fe6f3a0e4
9:111656297 ELP1 G>C	9	111656297	111656297	G	C	ELP1	c.2786C>G	NM_003640.5	NP_003631.2:p.(Thr929Ser)	NC_000009.11:g.111656297G>C	VUS	1 lab	3fe77df5d0
3:129151927 MBD4 G>A	3	129151927	129151927	G	A	MBD4	c.1561+14C>T	NM_003925.3	NP_003916.1:p.?	NC_000003.11:g.129151927G>A	(Likely) benign	1 lab	3fea0f0e2c
9:139400085 NOTCH1 G>A	9	139400085	139400085	G	A	NOTCH1	c.4263C>T	NM_017617.5	NP_060087.3:p.(Asn1421=)	NC_000009.11:g.139400085G>A	(Likely) benign	1 lab	3ffaf0cce7
3:47453417 PTPN23 C>T	3	47453417	47453417	C	T	PTPN23	c.4033C>T	NM_015466.4	NP_056281.1:p.(Arg1345Cys)	NC_000003.11:g.47453417C>T	VUS	1 lab	3fee594825
10:70210007 DNA2 G>GAA	10	70210007	70210019	G	GAA	DNA2	c.720-5_720-4dup	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70210018_70210019dup	(Likely) benign	1 lab	3fef573b86
16:68853306 CDH1 C>T	16	68853306	68853306	C	T	CDH1	c.1689C>T	NM_004360.5	NP_004351.1:p.(Ala563=)	NC_000016.9:g.68853306C>T	(Likely) benign	1 lab	3fefca91e6
13:70304471 KLHL1 Ref too long to show for this DEL>A	13	70304471	70325195	Ref too long to show for this DEL	A	KLHL1	c.1640-10507_1802+10054del	NM_020866.3	NP_065917.1:p.?	NC_000013.10:g.70304472_70325195del	VUS	1 lab	3ff23656f0
7:128486703 FLNC C>A	7	128486703	128486703	C	A	FLNC	c.4128-96C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486703C>A	(Likely) benign	1 lab	3ff24df7b1
2:189862158 COL3A1 G>A	2	189862158	189862158	G	A	COL3A1	c.1869+43G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862158G>A	(Likely) benign	1 lab	3ff3de7652
17:61432730 TANC2 C>T	17	61432730	61432730	C	T	TANC2	c.2339C>T	NM_025185.4	NP_079461.2:p.(Thr780Ile)	NC_000017.10:g.61432730C>T	VUS	1 lab	3ff67c567d
2:25064443 ADCY3 G>C	2	25064443	25064443	G	C	ADCY3	c.1050C>G	NM_004036.5	NP_004027.2:p.(Arg350=)	NC_000002.11:g.25064443G>C	(Likely) benign	1 lab	3ff86de2d8
1:47504311 MISSING G>Alt too long to show for this DUP	1	47504311	47630221	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.47504312_47630221dup	VUS	1 lab	3ffbd4c69c
19:10940817 DNM2 G>A	19	10940817	10940817	G	A	DNM2	c.2306G>A	NM_001005360.3	NP_001005360.1:p.(Arg769His)	NC_000019.9:g.10940817G>A	VUS	1 lab	3ffbf991ba
13:114438267 GRK1 G>A	13	114438267	114438267	G	A	GRK1	c.1623G>A	NM_002929.3	NP_002920.1:p.(Pro541=)	NC_000013.10:g.114438267G>A	VUS	1 lab	3ffee67a85
5:13841097 DNAH5 CT>C	5	13841097	13841098	CT	C	DNAH5	c.5626del	NM_001369.3	NP_001360.1:p.(Arg1876GlyfsTer3)	NC_000005.9:g.13841098del	(Likely) pathogenic	1 lab	40000ded56
2:108625130 SLC5A7 AG>A	2	108625130	108625131	AG	A	SLC5A7	c.1106del	NM_021815.5	NP_068587.1:p.(Arg369AsnfsTer30)	NC_000002.11:g.108625131del	VUS	1 lab	4000a0f1ce
Y:15448217 UTY TA>T	Y	15448217	15448229	TA	T	UTY	c.2062-3del	NM_001258249.2	NP_001245178.1:p.?	NC_000024.9:g.15448229del	(Likely) benign	1 lab	4001d5473d
1:224345408 FBXO28 ACTCT>A	1	224345408	224345414	ACTCT	A	FBXO28	c.1070_1073del	NM_015176.4	NP_055991.1:p.(Ser357LeufsTer28)	NC_000001.10:g.224345411_224345414del	VUS	1 lab	4004f3a1f5
3:186554387 MISSING Ref too long to show for this DEL>T	3	186554387	186583539	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.186554389_186583539del	VUS	1 lab	400bc7fff4
11:108168092 ATM G>A	11	108168092	108168092	G	A	ATM	c.4988G>A	NM_000051.4	NP_000042.3:p.(Gly1663Asp)	NC_000011.9:g.108168092G>A	(Likely) benign	1 lab	40125e47d3
4:55972946 KDR A>G	4	55972946	55972946	A	G	KDR	c.1444T>C	NM_002253.3	NP_002244.1:p.(Cys482Arg)	NC_000004.11:g.55972946A>G	(Likely) benign	1 lab	401570f7ef
9:139392112 NOTCH1 C>T	9	139392112	139392112	C	T	NOTCH1	c.6181-102G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139392112C>T	(Likely) benign	1 lab	4017186dba
18:29102172 DSG2 C>T	18	29102172	29102172	C	T	DSG2	c.650C>T	NM_001943.5	NP_001934.2:p.(Thr217Ile)	NC_000018.9:g.29102172C>T	VUS	1 lab	40178c2f08
1:12017248 PLOD1 G>A	1	12017248	12017248	G	A	PLOD1	c.741+177G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12017248G>A	VUS	1 lab	401bdb4f12
17:79817106 P4HB G>A	17	79817106	79817106	G	A	P4HB	c.303C>T	NM_000918.4	NP_000909.2:p.(Thr101=)	NC_000017.10:g.79817106G>A	(Likely) benign	1 lab	401c0d52ac
19:16606946 CALR3 T>A	19	16606946	16606946	T	A	CALR3	c.-6A>T	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606946T>A	(Likely) benign	1 lab	401d7916e2
5:171616586 MISSING Ref too long to show for this DEL>A	5	171616586	171649276	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.171616588_171649276del	VUS	1 lab	4025be6365
1:78560649 MISSING G>Alt too long to show for this DUP	1	78560649	78882010	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.78560651_78882010dup	VUS	1 lab	4026296dbe
10:89717799 PTEN G>A	10	89717799	89717799	G	A	PTEN	c.801+23G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89717799G>A	(Likely) benign	1 lab	4027179a8d
19:11224051 LDLR C>CGTGGTCGCTCTGGACACGGAG	19	11224051	11224076	C	CGTGGTCGCTCTGGACACGGAG	LDLR	c.1289_1309dup	NM_000527.5	NP_000518.1:p.(Val430_Val436dup)	NC_000019.9:g.11224056_11224076dup	(Likely) pathogenic	1 lab	40282c403e
11:77815059 ALG8 A>G	11	77815059	77815059	A	G	ALG8	c.1316T>C	NM_001007027.3	NP_001007028.1:p.(Ile439Thr)	NC_000011.9:g.77815059A>G	(Likely) benign	1 lab	4028ce410c
12:1965210 CACNA2D4 C>T	12	1965210	1965210	C	T	CACNA2D4	c.2120G>A	NM_172364.5	NP_758952.4:p.(Arg707His)	NC_000012.11:g.1965210C>T	(Likely) benign	1 lab	402b61c83a
14:76447066 TGFB3 A>AG	14	76447066	76447072	A	AG	TGFB3	c.170dup	NM_003239.5	NP_003230.1:p.(Glu58Ter)	NC_000014.8:g.76447072dup	(Likely) pathogenic	1 lab	402c1fe072
17:62152612 ERN1 A>T	17	62152612	62152612	A	T	ERN1	c.283-5T>A	NM_001433.5	NP_001424.3:p.?	NC_000017.10:g.62152612A>T	(Likely) benign	1 lab	402dc0f747
2:167137122 SCN9A G>T	2	167137122	167137122	G	T	SCN9A	c.2072-17C>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167137122G>T	(Likely) benign	1 lab	402ed3781a
6:32011722 TNXB G>A	6	32011722	32011722	G	A	TNXB	c.11381-53C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011722G>A	(Likely) benign	1 lab	402f1b2dfb
15:48782421 FBN1 A>C	15	48782421	48782421	A	C	FBN1	c.2855-146T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48782421A>C	(Likely) benign	1 lab	403029de1d
9:107571375 ABCA1 G>A	9	107571375	107571375	G	A	ABCA1	c.4274+372C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107571375G>A	(Likely) benign	1 lab	4030bca221
15:45392371 DUOX2 G>A	15	45392371	45392371	G	A	DUOX2	c.3061C>T	NM_001363711.2	NP_001350640.1:p.(Arg1021Ter)	NC_000015.9:g.45392371G>A	(Likely) pathogenic	1 lab	4031c6cf9d
15:59179264 SLTM G>A	15	59179264	59179264	G	A	SLTM	c.2745C>T	NM_024755.4	NP_079031.2:p.(Gly915=)	NC_000015.9:g.59179264G>A	(Likely) benign	1 lab	4038918210
17:60032841 MED13 C>A	17	60032841	60032841	C	A	MED13	c.5870G>T	NM_005121.3	NP_005112.2:p.(Cys1957Phe)	NC_000017.10:g.60032841C>A	VUS	1 lab	403925953b
5:133945295 SAR1B T>C	5	133945295	133945295	T	C	SAR1B	c.314A>G	NM_001033503.3	NP_001028675.1:p.(His105Arg)	NC_000005.9:g.133945295T>C	VUS	1 lab	403a1f2dbd
14:76349024 TTLL5 G>T	14	76349024	76349024	G	T	TTLL5	c.3523-4G>T	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76349024G>T	(Likely) benign	1 lab	403aae9397
5:149502730 PDGFRB G>A	5	149502730	149502730	G	A	PDGFRB	c.2058C>T	NM_002609.4	NP_002600.1:p.(Tyr686=)	NC_000005.9:g.149502730G>A	(Likely) benign	1 lab	4044af8d84
1:64117537 PGM1 G>T	1	64117537	64117537	G	T	PGM1	c.1518+14G>T	NM_001172818.1	NP_001166289.1:p.?	NC_000001.10:g.64117537G>T	(Likely) benign	1 lab	4046d3c101
2:21224846 APOB G>A	2	21224846	21224846	G	A	APOB	c.13448C>T	NM_000384.3	NP_000375.3:p.(Ala4483Val)	NC_000002.11:g.21224846G>A	VUS	1 lab	4047bdb791
12:50498419 GPD1 G>A	12	50498419	50498419	G	A	GPD1	c.104G>A	NM_005276.4	NP_005267.2:p.(Arg35Gln)	NC_000012.11:g.50498419G>A	VUS	1 lab	40488e9ab1
14:23862995 MYH6 C>T	14	23862995	23862995	C	T	MYH6	c.2808G>A	NM_002471.4	NP_002462.2:p.(Ala936=)	NC_000014.8:g.23862995C>T	(Likely) benign	1 lab	40495f029c
2:179456890 TTN A>G	2	179456890	179456890	A	G	TTN	c.59741T>C	NM_001267550.2	NP_001254479.2:p.(Val19914Ala)	NC_000002.11:g.179456890A>G	VUS	1 lab	406fdda8e2
2:179487419 TTN TCA>T	2	179487419	179487424	TCA	T	TTN	c.44889_44890del	NM_001267550.2	NP_001254479.2:p.(Cys14963Ter)	NC_000002.11:g.179487423_179487424del	(Likely) pathogenic	1 lab	404da5804d
5:7885794 MTRR T>TC	5	7885794	7885795	T	TC	MTRR	c.904-19dup	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7885795dup	(Likely) benign	1 lab	40533d84ff
2:179606451 TTN C>T	2	179606451	179606451	C	T	TTN	c.11509G>A	NM_001267550.2	NP_001254479.2:p.(Ala3837Thr)	NC_000002.11:g.179606451C>T	VUS	1 lab	405436f48a
11:68701945 IGHMBP2 C>T	11	68701945	68701945	C	T	IGHMBP2	c.1551C>T	NM_002180.3	NP_002171.2:p.(Leu517=)	NC_000011.9:g.68701945C>T	(Likely) benign	1 lab	4059a5a9f0
10:90699449 ACTA2 C>T	10	90699449	90699449	C	T	ACTA2	c.623G>A	NM_001141945.2	NP_001135417.1:p.(Arg208His)	NC_000010.10:g.90699449C>T	VUS	1 lab	405b765ecf
10:73472582 C10orf105 G>A	10	73472582	73472582	G	A	C10orf105	c.*3111C>T	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472582G>A	(Likely) benign	1 lab	405c8107d6
5:141045976 ARAP3 A>G	5	141045976	141045976	A	G	ARAP3	c.2572+15T>C	NM_022481.6	NP_071926.4:p.?	NC_000005.9:g.141045976A>G	(Likely) benign	1 lab	40642f3b22
9:137583006 COL5A1 C>T	9	137583006	137583006	C	T	COL5A1	c.277+81C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137583006C>T	(Likely) benign	1 lab	40654435c2
2:179636197 TTN A>AC	2	179636197	179636199	A	AC	TTN	c.7856dup	NM_133378.4	NP_596869.4:p.(Gly2620TrpfsTer14)	NC_000002.11:g.179636199dup	(Likely) pathogenic	1 lab	406a9fb826
1:236900597 ACTN2 G>GTATATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATATA	(Likely) benign	1 lab	406b27c190
4:128812230 PLK4 GT>G	4	128812230	128812244	GT	G	PLK4	c.1831-3del	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128812244del	(Likely) benign	1 lab	406bb5a6d2
19:13008674 GCDH G>A	19	13008674	13008674	G	A	GCDH	c.1240G>A	NM_000159.4	NP_000150.1:p.(Glu414Lys)	NC_000019.9:g.13008674G>A	(Likely) pathogenic	1 lab	406d47ed9a
1:2234850 SKI G>A	1	2234850	2234850	G	A	SKI	c.1211+11G>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2234850G>A	(Likely) benign	1 lab	406dc82cc2
2:179482028 TTN CT>C	2	179482028	179482034	CT	C	TTN	c.47760+23del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179482034del	(Likely) benign	1 lab	407144d6b1
10:52974594 PRKG1 A>Alt too long to show for this DUP	10	52974594	53000645	A	Alt too long to show for this DUP	PRKG1	c.478+61505_478+87555dup	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.52974595_53000645dup	VUS	1 lab	4073eefba3
2:179602810 TTN T>G	2	179602810	179602810	T	G	TTN	c.10638A>C	NM_133378.4	NP_596869.4:p.(Thr3546=)	NC_000002.11:g.179602810T>G	(Likely) benign	1 lab	40741d885b
1:215990508 USH2A C>T	1	215990508	215990508	C	T	USH2A	c.9401G>A	NM_206933.4	NP_996816.3:p.(Arg3134Gln)	NC_000001.10:g.215990508C>T	VUS	1 lab	4078fc2b03
14:23884435 MYH7 G>A	14	23884435	23884435	G	A	MYH7	c.5328C>T	NM_000257.4	NP_000248.2:p.(Ser1776=)	NC_000014.8:g.23884435G>A	(Likely) benign	1 lab	407d11085a
7:94057784 COL1A2 A>G	7	94057784	94057784	A	G	COL1A2	c.3706A>G	NM_000089.4	NP_000080.2:p.(Ser1236Gly)	NC_000007.13:g.94057784A>G	VUS	1 lab	4082cf19d9
16:57009388 CETP G>A	16	57009388	57009388	G	A	CETP	c.981+325G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57009388G>A	(Likely) benign	1 lab	40838985ff
1:75005931 TNNI3K T>A	1	75005931	75005931	T	A	TNNI3K	c.2365T>A	NM_015978.3	NP_057062.1:p.(Ser789Thr)	NC_000001.10:g.75005931T>A	VUS	1 lab	408463c993
X:54949559 TRO C>T	X	54949559	54949559	C	T	TRO	c.594C>T	NM_001039705.3	NP_001034794.1:p.(Thr198=)	NC_000023.10:g.54949559C>T	(Likely) benign	1 lab	4088404067
12:77449790 E2F7 A>G	12	77449790	77449790	A	G	E2F7	c.214T>C	NM_203394.3	NP_976328.2:p.(Phe72Leu)	NC_000012.11:g.77449790A>G	(Likely) benign	1 lab	408b372c1b
3:75786921 ZNF717 G>A	3	75786921	75786921	G	A	ZNF717	c.1853C>T	NM_001128223.3	NP_001121695.1:p.(Pro618Leu)	NC_000003.11:g.75786921G>A	(Likely) benign	1 lab	408ffda369
16:88793951 PIEZO1 T>G	16	88793951	88793951	T	G	PIEZO1	c.3301+14A>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793951T>G	(Likely) benign	1 lab	4092992174
10:12154928 DHTKD1 C>T	10	12154928	12154928	C	T	DHTKD1	c.2184C>T	NM_018706.7	NP_061176.4:p.(Asp728=)	NC_000010.10:g.12154928C>T	(Likely) benign	1 lab	4092d96daf
6:170771321 MISSING C>Alt too long to show for this DUP	6	170771321	170892445	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.170771325_170892445dup	VUS	1 lab	409442c52c
12:64858100 TBK1 A>ATT	12	64858100	64858110	A	ATT	TBK1	c.229-5_229-4dup	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64858109_64858110dup	(Likely) benign	1 lab	4097ca1c6c
18:57106955 CCBE1 G>A	18	57106955	57106955	G	A	CCBE1	c.869C>T	NM_133459.4	NP_597716.1:p.(Pro290Leu)	NC_000018.9:g.57106955G>A	VUS	1 lab	409a25ad5e
16:15876254 MYH11 G>C	16	15876254	15876254	G	C	MYH11	c.735C>G	NM_001040113.2	NP_001035202.1:p.(Asn245Lys)	NC_000016.9:g.15876254G>C	VUS	1 lab	409a81e647
2:97830036 ANKRD36 G>A	2	97830036	97830036	G	A	ANKRD36	c.1446G>A	NM_001354587.1	NP_001341516.1:p.(Pro482=)	NC_000002.11:g.97830036G>A	(Likely) benign	1 lab	409ab0dc1b
11:1785078 CTSD G>A	11	1785078	1785078	G	A	CTSD	c.12C>T	NM_001909.5	NP_001900.1:p.(Ser4=)	NC_000011.9:g.1785078G>A	(Likely) benign	1 lab	409bafacc0
16:1004080 LMF1 C>A	16	1004080	1004080	C	A	LMF1	c.-52+277G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004080C>A	(Likely) benign	1 lab	40a125752a
14:65568304 MAX G>GA	14	65568304	65568315	G	GA	MAX	c.37-15dup	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65568315dup	(Likely) benign	1 lab	40a404d18c
1:9354055 SPSB1 Ref too long to show for this DEL>G	1	9354055	9370005	Ref too long to show for this DEL	G	SPSB1	c.-150+926_-150+16875del	NM_025106.4	NP_079382.2:p.?	NC_000001.10:g.9354056_9370005del	VUS	1 lab	40a4aeb0f8
6:32039909 TNXB C>T	6	32039909	32039909	C	T	TNXB	c.4848G>A	NM_019105.8	NP_061978.6:p.(Gly1616=)	NC_000006.11:g.32039909C>T	(Likely) benign	1 lab	40a5b736f7
14:23870189 MYH6 G>T	14	23870189	23870189	G	T	MYH6	c.1142-3C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23870189G>T	(Likely) benign	1 lab	40a8db425c
X:135292145 FHL1 G>A	X	135292145	135292145	G	A	FHL1	c.804G>A	NM_001159704.1	NP_001153176.1:p.(Gln268=)	NC_000023.10:g.135292145G>A	(Likely) benign	1 lab	40aa882599
18:34289364 FHOD3 G>A	18	34289364	34289364	G	A	FHOD3	c.2533+10G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34289364G>A	(Likely) benign	1 lab	40abc4aba9
10:88477780 LDB3 A>G	10	88477780	88477780	A	G	LDB3	c.1406A>G	NM_001080114.2	NP_001073583.1:p.(Tyr469Cys)	NC_000010.10:g.88477780A>G	VUS	1 lab	40b1522d27
19:11224205 LDLR C>T	19	11224205	11224205	C	T	LDLR	c.1359-6C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224205C>T	(Likely) benign	1 lab	40b16650be
12:992556 WNK1 T>A	12	992556	992556	T	A	WNK1	c.4270-5T>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.992556T>A	(Likely) benign	1 lab	40b220d43e
6:143082639 HIVEP2 G>T	6	143082639	143082639	G	T	HIVEP2	c.5582C>A	NM_006734.4	NP_006725.3:p.(Ser1861Ter)	NC_000006.11:g.143082639G>T	(Likely) pathogenic	1 lab	40b5e191ef
9:32541998 TOPORS G>T	9	32541998	32541998	G	T	TOPORS	c.2525C>A	NM_005802.5	NP_005793.2:p.(Thr842Asn)	NC_000009.11:g.32541998G>T	(Likely) benign	1 lab	40b5fdcf3b
19:11239701 LDLR C>CAA	19	11239701	11239714	C	CAA	LDLR	c.2390-476_2390-475dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239713_11239714dup	(Likely) benign	1 lab	40bb14bb8f
12:2760808 CACNA1C C>T	12	2760808	2760808	C	T	CACNA1C	c.4092C>T	NM_199460.4	NP_955630.3:p.(Asn1364=)	NC_000012.11:g.2760808C>T	(Likely) benign	1 lab	40bc7a23a4
11:320733 IFITM3 G>C	11	320733	320733	G	C	IFITM3	c.81C>G	NM_021034.3	NP_066362.2:p.(His27Gln)	NC_000011.9:g.320733G>C	(Likely) benign	1 lab	40bd5a6c1e
4:100522498 MTTP G>T	4	100522498	100522498	G	T	MTTP	c.1237-266G>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522498G>T	(Likely) benign	1 lab	40be9191d1
11:63438798 ATL3 G>A	11	63438798	63438798	G	A	ATL3	c.10C>T	NM_015459.5	NP_056274.3:p.(Pro4Ser)	NC_000011.9:g.63438798G>A	(Likely) benign	1 lab	40be956cd2
12:977911 WNK1 C>CA	12	977911	977913	C	CA	WNK1	c.3021dup	NM_001184985.2	NP_001171914.1:p.(Ser1008IlefsTer13)	NC_000012.11:g.977913dup	(Likely) pathogenic	1 lab	40c17467e8
1:220368511 RAB3GAP2 T>C	1	220368511	220368511	T	C	RAB3GAP2	c.1041-2A>G	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220368511T>C	(Likely) pathogenic	1 lab	40ca670d4d
22:50678701 TUBGCP6 G>A	22	50678701	50678701	G	A	TUBGCP6	c.837C>T	NM_020461.4	NP_065194.3:p.(Asp279=)	NC_000022.10:g.50678701G>A	(Likely) benign	1 lab	40ce38e0ac
10:89623036 KLLN G>A	10	89623036	89623036	G	A	KLLN	c.-792C>T	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623036G>A	VUS	1 lab	40d00d1c99
16:3582814 CLUAP1 G>A	16	3582814	3582814	G	A	CLUAP1	c.1065G>A	NM_015041.3	NP_055856.1:p.(Thr355=)	NC_000016.9:g.3582814G>A	(Likely) benign	1 lab	40d097566d
16:8814260 MISSING G>Alt too long to show for this DUP	16	8814260	8943190	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.8814263_8943190dup	VUS	1 lab	40d1bbc7bc
2:227968771 COL4A4 T>TA	2	227968771	227968781	T	TA	COL4A4	c.736-4dup	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227968781dup	(Likely) benign	1 lab	40d2a7f938
14:105417282 AHNAK2 C>G	14	105417282	105417282	C	G	AHNAK2	c.4506G>C	NM_138420.4	NP_612429.2:p.(Ser1502=)	NC_000014.8:g.105417282C>G	(Likely) benign	1 lab	40d581a092
6:7568187 DSP A>G	6	7568187	7568187	A	G	DSP	c.1266+48A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568187A>G	(Likely) benign	1 lab	40da5936a5
4:114274994 ANK2 C>A	4	114274994	114274994	C	A	ANK2	c.5220C>A	NM_001148.6	NP_001139.3:p.(Asp1740Glu)	NC_000004.11:g.114274994C>A	(Likely) benign	1 lab	40dd736999
5:176619046 NSD1 T>C	5	176619046	176619046	T	C	NSD1	c.1063+26T>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176619046T>C	(Likely) benign	1 lab	40e33a7647
1:159432061 MISSING C>Alt too long to show for this DUP	1	159432061	159580404	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.159432063_159580404dup	VUS	1 lab	40e79aaeb2
15:40253974 EIF2AK4 T>G	15	40253974	40253974	T	G	EIF2AK4	c.744-11T>G	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40253974T>G	(Likely) benign	1 lab	40ea29e4eb
15:73004739 BBS4 G>A	15	73004739	73004739	G	A	BBS4	c.220+91G>A	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73004739G>A	(Likely) benign	1 lab	40ef8d4d9d
11:47353603 MYBPC3 T>TGGCCCC	11	47353603	47353610	T	TGGCCCC	MYBPC3	c.3814+14_3814+19dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353605_47353610dup	(Likely) benign	1 lab	40efa70378
3:128514277 RAB7A G>T	3	128514277	128514277	G	T	RAB7A	c.53+14G>T	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128514277G>T	(Likely) benign	1 lab	40f0f278c4
X:106092484 TBC1D8B A>T	X	106092484	106092484	A	T	TBC1D8B	c.1847A>T	NM_198881.2	NP_942582.1:p.(Asp616Val)	NC_000023.10:g.106092484A>T	(Likely) benign	1 lab	40f143bccc
2:179435337 TTN-AS1 T>G	2	179435337	179435337	T	G	TTN-AS1	n.2044-11962T>G	NR_038272.1		NC_000002.11:g.179435337T>G	(Likely) benign	1 lab	41a3f1edcb
2:21255223 APOB C>A	2	21255223	21255223	C	A	APOB	c.1352+3G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255223C>A	VUS	1 lab	40f5a9dbcf
17:39925943 JUP G>T	17	39925943	39925943	G	T	JUP	c.209-14C>A	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39925943G>T	(Likely) benign	1 lab	40f89c0ad5
19:11213457 LDLR GCTGT>G	19	11213457	11213462	GCTGT	G	LDLR	c.310_313del	NM_000527.5	NP_000518.1:p.(Cys104ProfsTer101)	NC_000019.9:g.11213459_11213462del	(Likely) pathogenic	1 lab	40fae461d3
3:171065010 TNIK G>GA	3	171065010	171065025	G	GA	TNIK	c.123+22398dup	NM_015028.4	NP_055843.1:p.?	NC_000003.11:g.171065025dup	(Likely) benign	1 lab	40fedce101
16:70925784 HYDIN T>TAATCTAAA	16	70925784	70925793	T	TAATCTAAA	HYDIN	c.9418-5_9420dup	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70925786_70925793dup	(Likely) pathogenic	1 lab	41016c5a4b
9:107559059 ABCA1 G>A	9	107559059	107559059	G	A	ABCA1	c.5122-354C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107559059G>A	(Likely) benign	1 lab	41046b181b
11:125831724 CDON C>T	11	125831724	125831724	C	T	CDON	c.3526G>A	NM_001243597.2	NP_001230526.1:p.(Val1176Ile)	NC_000011.9:g.125831724C>T	(Likely) benign	1 lab	41073452fe
8:24813607 NEFL C>T	8	24813607	24813607	C	T	NEFL	c.423G>A	NM_006158.5	NP_006149.2:p.(Gln141=)	NC_000008.10:g.24813607C>T	(Likely) benign	1 lab	426202b9ee
10:103284255 MISSING T>Alt too long to show for this DUP	10	103284255	103415583	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.103284256_103415583dup	VUS	1 lab	410a6f8cfc
1:911583 PERM1 C>T	1	911583	911583	C	T	PERM1	c.2342G>A	NM_001291366.2	NP_001278295.1:p.(Arg781His)	NC_000001.10:g.911583C>T	VUS	1 lab	410be27662
8:144297406 GPIHBP1 C>T	8	144297406	144297406	C	T	GPIHBP1	c.*13C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297406C>T	(Likely) benign	1 lab	4112927500
2:179435527 TTN A>G	2	179435527	179435527	A	G	TTN	c.75332T>C	NM_001267550.2	NP_001254479.2:p.(Ile25111Thr)	NC_000002.11:g.179435527A>G	VUS	1 lab	4115e15706
6:169590971 MISSING C>Alt too long to show for this DUP	6	169590971	169818298	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.169590973_169818298dup	VUS	1 lab	41172f0c3f
2:196728906 DNAH7 A>G	2	196728906	196728906	A	G	DNAH7	c.7473T>C	NM_018897.3	NP_061720.2:p.(Ala2491=)	NC_000002.11:g.196728906A>G	(Likely) benign	1 lab	41179707a2
2:97475128 CNNM4 C>T	2	97475128	97475128	C	T	CNNM4	c.2202C>T	NM_020184.4	NP_064569.3:p.(Asp734=)	NC_000002.11:g.97475128C>T	(Likely) benign	1 lab	411e4b2395
1:25889672 LDLRAP1 G>A	1	25889672	25889672	G	A	LDLRAP1	c.616+28G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889672G>A	(Likely) benign	1 lab	411fc78818
3:53707848 CACNA1D G>A	3	53707848	53707848	G	A	CACNA1D	c.1220+695G>A	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53707848G>A	VUS	1 lab	411fd0437f
10:112595713 RBM20 C>T	10	112595713	112595713	C	T	RBM20	c.3661C>T	NM_001134363.3	NP_001127835.2:p.(Arg1221Cys)	NC_000010.10:g.112595713C>T	VUS	1 lab	41233411bd
18:6980566 LAMA1 G>T	18	6980566	6980566	G	T	LAMA1	c.5961C>A	NM_005559.4	NP_005550.2:p.(Thr1987=)	NC_000018.9:g.6980566G>T	(Likely) benign	1 lab	4123e327c5
8:1873526 ARHGEF10 G>A	8	1873526	1873526	G	A	ARHGEF10	c.2638G>A	NM_001308153.2	NP_001295082.1:p.(Val880Ile)	NC_000008.10:g.1873526G>A	(Likely) benign	1 lab	412681f568
2:179632841 TTN C>A	2	179632841	179632841	C	A	TTN	c.9205G>T	NM_001267550.2	NP_001254479.2:p.(Val3069Leu)	NC_000002.11:g.179632841C>A	VUS	1 lab	4126d9952e
17:37360874 RPL19 A>G	17	37360874	37360874	A	G	RPL19	c.564A>G	NM_000981.4	NP_000972.1:p.(Leu188=)	NC_000017.10:g.37360874A>G	(Likely) benign	1 lab	4128f1ecd1
X:70442929 GJB1 C>T	X	70442929	70442929	C	T	GJB1	c.-16-613C>T	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442929C>T	(Likely) benign	1 lab	412cab8c02
4:82082723 PRKG2 Ref too long to show for this DEL>G	4	82082723	82101909	Ref too long to show for this DEL	G	PRKG2	c.462-5795_912+5591del	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82082725_82101909del	VUS	1 lab	412df9a9af
6:16143975 MYLIP T>C	6	16143975	16143975	T	C	MYLIP	c.708T>C	NM_013262.4	NP_037394.2:p.(Asn236=)	NC_000006.11:g.16143975T>C	(Likely) benign	1 lab	412fadeedb
15:30385090 GOLGA8J G>A	15	30385090	30385090	G	A	GOLGA8J	c.1470-4G>A	NM_001282472.2	NP_001269401.1:p.?	NC_000015.9:g.30385090G>A	(Likely) benign	1 lab	413030613e
9:107602813 ABCA1 A>AT	9	107602813	107602814	A	AT	ABCA1	c.814-14dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107602814dup	(Likely) benign	1 lab	41303eb292
6:116720527 DSE C>T	6	116720527	116720527	C	T	DSE	c.114C>T	NM_013352.4	NP_037484.1:p.(Ala38=)	NC_000006.11:g.116720527C>T	(Likely) benign	1 lab	4132c27d30
8:133146626 KCNQ3 C>CAT	8	133146626	133146630	C	CAT	KCNQ3	c.1708_1709dup	NM_004519.4	NP_004510.1:p.(Met570IlefsTer2)	NC_000008.10:g.133146629_133146630dup	VUS	1 lab	4132ea5707
19:55246731 KIR3DL3 C>T	19	55246731	55246731	C	T	KIR3DL3	c.961A>T	NM_153443.4	NP_703144.3:p.(Asn321Tyr)	NC_000019.9:g.55246731C>T	(Likely) benign	1 lab	4136223896
22:51159567 SHANK3 G>A	22	51159567	51159567	G	A	SHANK3	c.3531G>A	NM_001372044.2	NP_001358973.1:p.(Leu1177=)	NC_000022.10:g.51159567G>A	(Likely) benign	1 lab	4136dfbc7d
2:179640399 TTN A>C	2	179640399	179640399	A	C	TTN	c.6192T>G	NM_001267550.2	NP_001254479.2:p.(Phe2064Leu)	NC_000002.11:g.179640399A>C	VUS	1 lab	413840073a
9:103297449 MISSING A>Alt too long to show for this DUP	9	103297449	103459084	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.103297450_103459084dup	VUS	1 lab	413be86d03
22:50664697 TUBGCP6 G>A	22	50664697	50664697	G	A	TUBGCP6	c.1693+19C>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50664697G>A	(Likely) benign	1 lab	413d10e810
21:47666744 MCM3AP G>T	21	47666744	47666744	G	T	MCM3AP	c.4347C>A	NM_003906.5	NP_003897.2:p.(Asp1449Glu)	NC_000021.8:g.47666744G>T	(Likely) benign	1 lab	413d5fb5ac
2:44079573 ABCG8 G>A	2	44079573	44079573	G	A	ABCG8	c.642G>A	NM_022437.3	NP_071882.1:p.(Ser214=)	NC_000002.11:g.44079573G>A	(Likely) benign	1 lab	41400945e0
5:127641346 FBN2 C>T	5	127641346	127641346	C	T	FBN2	c.5549-18G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641346C>T	(Likely) benign	1 lab	4140d8194e
1:2126139 FAAP20 C>G	1	2126139	2126139	C	G	FAAP20	c.50G>C	NM_001256946.2	NP_001243875.2:p.(Arg17Pro)	NC_000001.10:g.2126139C>G	(Likely) benign	1 lab	4141473c05
15:58855879 LIPC G>A	15	58855879	58855879	G	A	LIPC	c.1345G>A	NM_000236.3	NP_000227.2:p.(Val449Ile)	NC_000015.9:g.58855879G>A	(Likely) benign	1 lab	41451e7bce
10:76781790 KAT6B G>A	10	76781790	76781790	G	A	KAT6B	c.3173G>A	NM_012330.4	NP_036462.2:p.(Arg1058Gln)	NC_000010.10:g.76781790G>A	VUS	1 lab	4149323819
22:50893019 SBF1 C>G	22	50893019	50893019	C	G	SBF1	c.4965G>C	NM_002972.4	NP_002963.2:p.(Gln1655His)	NC_000022.10:g.50893019C>G	VUS	1 lab	414ace8e8d
17:8122911 MISSING C>Alt too long to show for this DUP	17	8122911	8319914	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8122912_8319914dup	VUS	1 lab	414c889a84
20:31998090 SNTA1 T>G	20	31998090	31998090	T	G	SNTA1	c.1088A>C	NM_003098.3	NP_003089.1:p.(Glu363Ala)	NC_000020.10:g.31998090T>G	(Likely) benign	1 lab	41571cc3ce
2:179641527 TTN T>C	2	179641527	179641527	T	C	TTN	c.5064A>G	NM_001267550.2	NP_001254479.2:p.(Gln1688=)	NC_000002.11:g.179641527T>C	(Likely) benign	1 lab	415826374b
17:1554094 PRPF8 G>A	17	1554094	1554094	G	A	PRPF8	c.*2C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1554094G>A	(Likely) benign	1 lab	415baa219c
16:57016122 CETP G>A	16	57016122	57016122	G	A	CETP	c.1294G>A	NM_000078.3	NP_000069.2:p.(Ala432Thr)	NC_000016.9:g.57016122G>A	VUS	1 lab	415e41ff04
8:134128945 TG A>G	8	134128945	134128945	A	G	TG	c.7847A>G	NM_003235.5	NP_003226.4:p.(Asn2616Ser)	NC_000008.10:g.134128945A>G	(Likely) benign	1 lab	415fc522cc
4:100532802 MTTP T>A	4	100532802	100532802	T	A	MTTP	c.1989+192T>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532802T>A	(Likely) benign	1 lab	4160381b00
6:56505063 DST A>G	6	56505063	56505063	A	G	DST	c.2269T>C	NM_001144769.5	NP_001138241.1:p.(Leu757=)	NC_000006.11:g.56505063A>G	(Likely) benign	1 lab	4169e29728
7:91631812 AKAP9 T>C	7	91631812	91631812	T	C	AKAP9	c.2581T>C	NM_005751.5	NP_005742.4:p.(Tyr861His)	NC_000007.13:g.91631812T>C	VUS	1 lab	416a4d2255
11:47359008 MYBPC3 C>T	11	47359008	47359008	C	T	MYBPC3	c.2536G>A	NM_000256.3	NP_000247.2:p.(Val846Ile)	NC_000011.9:g.47359008C>T	VUS	1 lab	416afdd5c7
18:57364459 CCBE1 G>A	18	57364459	57364459	G	A	CCBE1	c.116C>T	NM_133459.4	NP_597716.1:p.(Pro39Leu)	NC_000018.9:g.57364459G>A	VUS	1 lab	4170ff9a4a
3:184038716 EIF4G1 C>T	3	184038716	184038716	C	T	EIF4G1	c.632C>T	NM_182917.4	NP_886553.3:p.(Thr211Met)	NC_000003.11:g.184038716C>T	(Likely) benign	1 lab	41717e4d75
4:114208743 ANK2 G>T	4	114208743	114208743	G	T	ANK2	c.2080-18G>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114208743G>T	(Likely) benign	1 lab	41724dc04b
8:128893879 PVT1 Ref too long to show for this DEL>T	8	128893879	128908204	Ref too long to show for this DEL	T	PVT1	n.212-8955_621+4960del	NR_190187.1		NC_000008.10:g.128893880_128908204del	VUS	1 lab	4172769769
5:141051236 ARAP3 C>T	5	141051236	141051236	C	T	ARAP3	c.1755G>A	NM_022481.6	NP_071926.4:p.(Ala585=)	NC_000005.9:g.141051236C>T	(Likely) benign	1 lab	4172a36d7a
9:111693332 ELP1 G>A	9	111693332	111693332	G	A	ELP1	c.95C>T	NM_003640.5	NP_003631.2:p.(Thr32Met)	NC_000009.11:g.111693332G>A	VUS	1 lab	4173b4d534
12:133423830 MISSING C>Alt too long to show for this DUP	12	133423830	133579084	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.133423831_133579084dup	VUS	1 lab	4176435e02
11:108216609 ATM C>T	11	108216609	108216609	C	T	ATM	c.8558C>T	NM_000051.4	NP_000042.3:p.(Thr2853Met)	NC_000011.9:g.108216609C>T	VUS	1 lab	4179d6ea61
9:139410050 NOTCH1 C>T	9	139410050	139410050	C	T	NOTCH1	c.1788G>A	NM_017617.5	NP_060087.3:p.(Thr596=)	NC_000009.11:g.139410050C>T	(Likely) benign	1 lab	4179e8ed5b
6:16145551 MYLIP A>G	6	16145551	16145551	A	G	MYLIP	c.1248+3A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16145551A>G	(Likely) benign	1 lab	417cc6dc26
10:69966664 MYPN A>G	10	69966664	69966664	A	G	MYPN	c.3793+4A>G	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69966664A>G	(Likely) benign	1 lab	417d04184d
2:231201013 SP140L T>Alt too long to show for this DUP	2	231201013	231267663	T	Alt too long to show for this DUP	SP140L	c.107+7470_*52dup	NM_138402.6	NP_612411.4:p.?	NC_000002.11:g.231201016_231267663dup	VUS	1 lab	417dabca8f
18:21136567 NPC1 G>A	18	21136567	21136567	G	A	NPC1	c.966C>T	NM_000271.5	NP_000262.2:p.(Ser322=)	NC_000018.9:g.21136567G>A	(Likely) benign	1 lab	41831d4db0
14:23897029 MYH7 C>T	14	23897029	23897029	C	T	MYH7	c.1653G>A	NM_000257.4	NP_000248.2:p.(Lys551=)	NC_000014.8:g.23897029C>T	(Likely) benign	1 lab	4184836a83
3:123458632 MYLK C>G	3	123458632	123458632	C	G	MYLK	c.422+168G>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123458632C>G	(Likely) benign	1 lab	4185e00fc0
3:159609899 SCHIP1 G>A	3	159609899	159609899	G	A	SCHIP1	c.1332G>A	NM_014575.4	NP_055390.1:p.(Glu444=)	NC_000003.11:g.159609899G>A	(Likely) benign	1 lab	418781f7ec
16:57003554 CETP A>G	16	57003554	57003554	A	G	CETP	c.400A>G	NM_000078.3	NP_000069.2:p.(Ile134Val)	NC_000016.9:g.57003554A>G	VUS	1 lab	418896f4bd
11:65637573 EFEMP2 T>C	11	65637573	65637573	T	C	EFEMP2	c.607+19A>G	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65637573T>C	(Likely) benign	1 lab	41902cec3e
16:912453 LMF1 A>G	16	912453	912453	A	G	LMF1	c.1130+6491T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.912453A>G	(Likely) benign	1 lab	41949fd3aa
2:47612298 EPCAM C>T	2	47612298	47612298	C	T	EPCAM	c.859-7C>T	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47612298C>T	(Likely) benign	1 lab	4194c8b804
19:11213419 LDLR T>C	19	11213419	11213419	T	C	LDLR	c.270T>C	NM_000527.5	NP_000518.1:p.(Asp90=)	NC_000019.9:g.11213419T>C	(Likely) benign	1 lab	41953c5d08
5:127627289 FBN2 G>A	5	127627289	127627289	G	A	FBN2	c.6224C>T	NM_001999.4	NP_001990.2:p.(Thr2075Ile)	NC_000005.9:g.127627289G>A	VUS	1 lab	419727a22d
X:17498190 NHS T>Alt too long to show for this DUP	X	17498190	17723967	T	Alt too long to show for this DUP	NHS	c.565+103746_852+13379dup	NM_001291867.2	NP_001278796.1:p.?	NC_000023.10:g.17498191_17723967dup	(Likely) pathogenic	1 lab	419876f9bd
7:150648604 KCNH2 C>A	7	150648604	150648604	C	A	KCNH2	c.1877G>T	NM_000238.4	NP_000229.1:p.(Gly626Val)	NC_000007.13:g.150648604C>A	(Likely) pathogenic	1 lab	419c44d040
19:7594159 MCOLN1 G>A	19	7594159	7594159	G	A	MCOLN1	c.1236+71G>A	NM_020533.3	NP_065394.1:p.?	NC_000019.9:g.7594159G>A	(Likely) benign	1 lab	419daf0d90
19:47259369 FKRP G>T	19	47259369	47259369	G	T	FKRP	c.662G>T	NM_001039885.3	NP_001034974.1:p.(Ser221Ile)	NC_000019.9:g.47259369G>T	VUS	1 lab	41bbca1f13
16:3779592 CREBBP C>A	16	3779592	3779592	C	A	CREBBP	c.5456G>T	NM_004380.3	NP_004371.2:p.(Cys1819Phe)	NC_000016.9:g.3779592C>A	(Likely) pathogenic	1 lab	419ffa160c
17:42428788 GRN G>A	17	42428788	42428788	G	A	GRN	c.893G>A	NM_002087.4	NP_002078.1:p.(Arg298His)	NC_000017.10:g.42428788G>A	VUS	1 lab	41a38971e5
5:179251313 SQSTM1 G>A	5	179251313	179251313	G	A	SQSTM1	c.663G>A	NM_003900.5	NP_003891.1:p.(Thr221=)	NC_000005.9:g.179251313G>A	(Likely) benign	1 lab	41a6ae2623
14:57198082 MISSING Ref too long to show for this DEL>G	14	57198082	57538053	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.57198083_57538053del	VUS	1 lab	41ab139466
2:198267483 SF3B1 C>A	2	198267483	198267483	C	A	SF3B1	c.1874G>T	NM_012433.4	NP_036565.2:p.(Arg625Leu)	NC_000002.11:g.198267483C>A	VUS	1 lab	41abf1e9d2
2:179647564 TTN G>A	2	179647564	179647564	G	A	TTN	c.3069C>T	NM_001267550.2	NP_001254479.2:p.(Thr1023=)	NC_000002.11:g.179647564G>A	(Likely) benign	1 lab	41b2651f2d
11:9834169 SBF2 C>A	11	9834169	9834169	C	A	SBF2	c.4065G>T	NM_030962.4	NP_112224.1:p.(Lys1355Asn)	NC_000011.9:g.9834169C>A	VUS	1 lab	41b59c3b36
19:11238802 LDLR C>A	19	11238802	11238802	C	A	LDLR	c.2389+41C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238802C>A	(Likely) benign	1 lab	41b6dc1a71
22:50903122 SBF1 C>T	22	50903122	50903122	C	T	SBF1	c.1477G>A	NM_002972.4	NP_002963.2:p.(Gly493Ser)	NC_000022.10:g.50903122C>T	VUS	1 lab	41b9c9f087
17:36491131 GPR179 C>T	17	36491131	36491131	C	T	GPR179	c.1430G>A	NM_001004334.4	NP_001004334.3:p.(Arg477Gln)	NC_000017.10:g.36491131C>T	VUS	1 lab	41ba1dbcc9
5:16572152 RETREG1 C>T	5	16572152	16572152	C	T	RETREG1	c.380G>A	NM_001034850.3	NP_001030022.1:p.(Arg127His)	NC_000005.9:g.16572152C>T	VUS	1 lab	41c116675d
19:11222279 LDLR C>T	19	11222279	11222279	C	T	LDLR	c.1150C>T	NM_000527.5	NP_000518.1:p.(Gln384Ter)	NC_000019.9:g.11222279C>T	(Likely) pathogenic	1 lab	41c1b4442e
9:139326914 INPP5E A>G	9	139326914	139326914	A	G	INPP5E	c.1387+17T>C	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139326914A>G	(Likely) benign	1 lab	41c3b5f21c
17:48274351 COL1A1 A>G	17	48274351	48274351	A	G	COL1A1	c.804+20T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48274351A>G	(Likely) benign	1 lab	41c4d0da84
X:48458092 WDR13 C>T	X	48458092	48458092	C	T	WDR13	c.234C>T	NM_001166426.3	NP_001159898.1:p.(His78=)	NC_000023.10:g.48458092C>T	(Likely) benign	1 lab	41ccf6a90b
5:37048634 NIPBL T>C	5	37048634	37048634	T	C	NIPBL	c.6620T>C	NM_133433.4	NP_597677.2:p.(Met2207Thr)	NC_000005.9:g.37048634T>C	(Likely) pathogenic	1 lab	41cfe15a83
6:75890930 COL12A1 AT>A	6	75890930	75890933	AT	A	COL12A1	c.1892-4del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890933del	(Likely) benign	1 lab	41d2890bc7
8:3325975 CSMD1 Ref too long to show for this DEL>G	8	3325975	3360843	Ref too long to show for this DEL	G	CSMD1	c.1345-9595_1561+258del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3325976_3360843del	VUS	1 lab	41d3c37bcd
5:89988445 ADGRV1 T>C	5	89988445	89988445	T	C	ADGRV1	c.6975T>C	NM_032119.4	NP_115495.3:p.(Asp2325=)	NC_000005.9:g.89988445T>C	(Likely) benign	1 lab	41d5079561
5:180046074 FLT4 C>A	5	180046074	180046074	C	A	FLT4	c.2797G>T	NM_182925.5	NP_891555.2:p.(Gly933Cys)	NC_000005.9:g.180046074C>A	(Likely) pathogenic	1 lab	41daa582a4
3:128526457 RAB7A G>C	3	128526457	128526457	G	C	RAB7A	c.471G>C	NM_004637.6	NP_004628.4:p.(Lys157Asn)	NC_000003.11:g.128526457G>C	(Likely) pathogenic	1 lab	41daad2319
18:5407730 EPB41L3 G>A	18	5407730	5407730	G	A	EPB41L3	c.2127C>T	NM_012307.5	NP_036439.2:p.(Asp709=)	NC_000018.9:g.5407730G>A	(Likely) benign	1 lab	41e0c0c7da
6:41129313 TREM2 C>T	6	41129313	41129313	C	T	TREM2	c.79G>A	NM_018965.4	NP_061838.1:p.(Val27Met)	NC_000006.11:g.41129313C>T	(Likely) benign	1 lab	41e5ab1256
11:47371760 MYBPC3 C>T	11	47371760	47371760	C	T	MYBPC3	c.407-97G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371760C>T	(Likely) benign	1 lab	41e6129ac1
17:39973407 FKBP10 C>T	17	39973407	39973407	C	T	FKBP10	c.343C>T	NM_021939.4	NP_068758.3:p.(Arg115Ter)	NC_000017.10:g.39973407C>T	(Likely) pathogenic	1 lab	41e630805e
12:22063121 ABCC9 C>A	12	22063121	22063121	C	A	ABCC9	c.1290G>T	NM_020297.4	NP_064693.2:p.(Leu430=)	NC_000012.11:g.22063121C>A	(Likely) benign	1 lab	41e8d3d8ec
14:102510747 DYNC1H1 C>T	14	102510747	102510747	C	T	DYNC1H1	c.12821C>T	NM_001376.5	NP_001367.2:p.(Thr4274Ile)	NC_000014.8:g.102510747C>T	(Likely) benign	1 lab	41ed8d1bd3
11:75902611 WNT11 T>C	11	75902611	75902611	T	C	WNT11	c.887A>G	NM_004626.3	NP_004617.2:p.(Asp296Gly)	NC_000011.9:g.75902611T>C	VUS	1 lab	41f0b07d99
11:47365714 MYBPC3 C>T	11	47365714	47365714	C	T	MYBPC3	c.1091-539G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365714C>T	(Likely) benign	1 lab	41f1e37ed7
19:11323941 DOCK6 G>A	19	11323941	11323941	G	A	DOCK6	c.4402C>T	NM_020812.4	NP_065863.2:p.(Arg1468Ter)	NC_000019.9:g.11323941G>A	(Likely) pathogenic	1 lab	41f3e6a01e
17:80502135 FOXK2 Ref too long to show for this DEL>T	17	80502135	80511128	Ref too long to show for this DEL	T	FOXK2	c.420-19094_420-10102del	NM_004514.4	NP_004505.2:p.?	NC_000017.10:g.80502136_80511128del	VUS	1 lab	41f4606e73
17:33428058 RAD51D GGAA>G	17	33428058	33428068	GGAA	G	RAD51D	c.904-6_904-4del	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33428066_33428068del	(Likely) benign	1 lab	41f4f21b77
6:16143988 MYLIP G>A	6	16143988	16143988	G	A	MYLIP	c.721G>A	NM_013262.4	NP_037394.2:p.(Val241Ile)	NC_000006.11:g.16143988G>A	(Likely) benign	1 lab	41f56fcc3b
16:68849623 CDH1 C>T	16	68849623	68849623	C	T	CDH1	c.1526C>T	NM_004360.5	NP_004351.1:p.(Thr509Ile)	NC_000016.9:g.68849623C>T	VUS	1 lab	41f816ed50
9:138662832 KCNT1 G>A	9	138662832	138662832	G	A	KCNT1	c.1764G>A	NM_001272003.2	NP_001258932.1:p.(Ser588=)	NC_000009.11:g.138662832G>A	(Likely) benign	1 lab	41f8900bb8
8:144297018 GPIHBP1 C>T	8	144297018	144297018	C	T	GPIHBP1	c.295+17C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297018C>T	(Likely) benign	1 lab	41fecc9762
12:76895000 MISSING C>Alt too long to show for this DUP	12	76895000	77276117	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.76895001_77276117dup	VUS	1 lab	4202074a6d
19:50794260 MYH14 C>T	19	50794260	50794260	C	T	MYH14	c.5082C>T	NM_001145809.2	NP_001139281.1:p.(Ala1694=)	NC_000019.9:g.50794260C>T	(Likely) benign	1 lab	42039644e1
10:112581135 RBM20 T>G	10	112581135	112581135	T	G	RBM20	c.2758T>G	NM_001134363.3	NP_001127835.2:p.(Phe920Val)	NC_000010.10:g.112581135T>G	VUS	1 lab	4203ae60bb
15:85360736 ALPK3 G>C	15	85360736	85360736	G	C	ALPK3	c.53G>C	NM_020778.5	NP_065829.4:p.(Gly18Ala)	NC_000015.9:g.85360736G>C	VUS	1 lab	4210b21488
6:152702501 SYNE1 T>C	6	152702501	152702501	T	C	SYNE1	c.8674-4A>G	NM_033071.4	NP_149062.2:p.?	NC_000006.11:g.152702501T>C	(Likely) benign	1 lab	4212d769db
2:241722040 KIF1A CAGAG>C	2	241722040	241722048	CAGAG	C	KIF1A	c.865-20_865-17del	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241722045_241722048del	(Likely) benign	1 lab	4212fccf02
3:181848417 MISSING Ref too long to show for this DEL>A	3	181848417	187990021	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.181848418_187990021del	(Likely) pathogenic	1 lab	42149cf2d2
2:220283588 DES C>T	2	220283588	220283588	C	T	DES	c.404C>T	NM_001927.4	NP_001918.3:p.(Ala135Val)	NC_000002.11:g.220283588C>T	(Likely) benign	1 lab	4216be85d1
X:119582932 LAMP2 A>T	X	119582932	119582932	A	T	LAMP2	c.449T>A	NM_002294.3	NP_002285.1:p.(Leu150His)	NC_000023.10:g.119582932A>T	VUS	1 lab	4218ac9c1f
17:39240803 KRTAP4-7 C>CATCTCCAGCTGCTGT	17	39240803	39240804	C	CATCTCCAGCTGCTGT	KRTAP4-7	c.345_346insATCTCCAGCTGCTGT	NM_033061.3	NP_149050.3:p.(Cys115_Arg116insIleSerSerCysCys)	NC_000017.10:g.39240803_39240804insATCTCCAGCTGCTGT	(Likely) benign	1 lab	4219f6a129
12:117977703 KSR2 A>G	12	117977703	117977703	A	G	KSR2	c.1519-11T>C	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117977703A>G	(Likely) benign	1 lab	421bae228d
7:100275376 GNB2 G>A	7	100275376	100275376	G	A	GNB2	c.432G>A	NM_005273.4	NP_005264.2:p.(Gly144=)	NC_000007.13:g.100275376G>A	(Likely) benign	1 lab	421bdca03e
19:45411965 APOE G>T	19	45411965	45411965	G	T	APOE	c.490G>T	NM_001302688.2	NP_001289617.1:p.(Gly164Cys)	NC_000019.9:g.45411965G>T	VUS	1 lab	4220899cad
16:920803 LMF1 CAA>C	16	920803	920805	CAA	C	LMF1	c.757_758del	NM_001352018.2	NP_001338947.1:p.(Leu253AlafsTer61)	NC_000016.9:g.920804_920805del	(Likely) pathogenic	1 lab	4220f89246
9:79930265 VPS13A A>G	9	79930265	79930265	A	G	VPS13A	c.4509A>G	NM_033305.3	NP_150648.2:p.(Gln1503=)	NC_000009.11:g.79930265A>G	(Likely) benign	1 lab	4227cce723
4:154216956 TRIM2 G>A	4	154216956	154216956	G	A	TRIM2	c.1197G>A	NM_001130067.2	NP_001123539.1:p.(Gly399=)	NC_000004.11:g.154216956G>A	(Likely) benign	1 lab	42280f0178
3:38601847 SCN5A G>C	3	38601847	38601847	G	C	SCN5A	c.4036C>G	NM_198056.3	NP_932173.1:p.(Leu1346Val)	NC_000003.11:g.38601847G>C	VUS	1 lab	4228d945b7
11:116661646 APOA5 A>C	11	116661646	116661646	A	C	APOA5	c.299T>G	NM_052968.5	NP_443200.2:p.(Leu100Trp)	NC_000011.9:g.116661646A>C	VUS	1 lab	422bb55800
1:74737374 FPGT-TNNI3K A>G	1	74737374	74737374	A	G	FPGT-TNNI3K	c.729A>G	NM_001112808.3	NP_001106279.3:p.(Thr243=)	NC_000001.10:g.74737374A>G	(Likely) benign	1 lab	422bb8d84c
7:91706252 AKAP9 A>G	7	91706252	91706252	A	G	AKAP9	c.6696A>G	NM_005751.5	NP_005742.4:p.(Gln2232=)	NC_000007.13:g.91706252A>G	(Likely) benign	1 lab	422ef37dcb
9:107585316 ABCA1 T>G	9	107585316	107585316	T	G	ABCA1	c.2657-368A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585316T>G	(Likely) benign	1 lab	42327a6ffc
9:87376151 NTRK2 T>C	9	87376151	87376151	T	C	NTRK2	c.1413T>C	NM_001369547.1	NP_001356476.1:p.(Asp471=)	NC_000009.11:g.87376151T>C	(Likely) benign	1 lab	4234c76a1d
16:29432211 MISSING Ref too long to show for this DEL>C	16	29432211	30344958	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29432212_30344958del	(Likely) pathogenic	1 lab	4239312169
1:55523126 PCSK9 C>T	1	55523126	55523126	C	T	PCSK9	c.1119C>T	NM_174936.4	NP_777596.2:p.(Ser373=)	NC_000001.10:g.55523126C>T	(Likely) benign	1 lab	423acb6836
7:91712875 AKAP9 A>C	7	91712875	91712875	A	C	AKAP9	c.8552A>C	NM_005751.5	NP_005742.4:p.(Glu2851Ala)	NC_000007.13:g.91712875A>C	VUS	1 lab	423db0d137
12:120878246 COX6A1 TCACTC>T	12	120878246	120878254	TCACTC	T	COX6A1	c.247-7_247-3del	NM_004373.4	NP_004364.2:p.?	NC_000012.11:g.120878250_120878254del	(Likely) pathogenic	1 lab	423f90dfdd
15:58853289 LIPC C>T	15	58853289	58853289	C	T	LIPC	c.1169+109C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853289C>T	(Likely) benign	1 lab	4243c7d241
14:100594940 EVL CAGT>C	14	100594940	100594943	CAGT	C	EVL	c.573_575del	NM_016337.3	NP_057421.1:p.(Val192del)	NC_000014.8:g.100594941_100594943del	(Likely) benign	1 lab	42449c24a5
7:128490170 FLNC C>T	7	128490170	128490170	C	T	FLNC	c.5298+42C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490170C>T	(Likely) benign	1 lab	4246f3ade0
20:91124 MISSING Ref too long to show for this DEL>T	20	91124	476701	Ref too long to show for this DEL	T	MISSING				NC_000020.10:g.91125_476701del	(Likely) pathogenic	1 lab	42490ce346
13:73396065 PIBF1 AAACAG>A	13	73396065	73396070	AAACAG	A	PIBF1	c.752_756del	NM_006346.4	NP_006337.2:p.(Lys251IlefsTer6)	NC_000013.10:g.73396066_73396070del	(Likely) pathogenic	1 lab	424d5ca303
X:70443579 GJB1 A>C	X	70443579	70443579	A	C	GJB1	c.22A>C	NM_000166.6	NP_000157.1:p.(Thr8Pro)	NC_000023.10:g.70443579A>C	(Likely) pathogenic	1 lab	4266128c12
9:35714269 TLN1 G>A	9	35714269	35714269	G	A	TLN1	c.3087C>T	NM_006289.4	NP_006280.3:p.(Thr1029=)	NC_000009.11:g.35714269G>A	(Likely) benign	1 lab	42566933ef
5:137844495 ETF1 TC>T	5	137844495	137844497	TC	T	ETF1	c.994del	NM_001256302.2	NP_001243231.1:p.(Glu332AsnfsTer39)	NC_000005.9:g.137844497del	VUS	1 lab	4256ce7e5b
16:57017270 CETP A>G	16	57017270	57017270	A	G	CETP	c.1354A>G	NM_000078.3	NP_000069.2:p.(Ser452Gly)	NC_000016.9:g.57017270A>G	(Likely) benign	1 lab	4259b92f10
12:48376372 COL2A1 G>C	12	48376372	48376372	G	C	COL2A1	c.2214C>G	NM_001844.5	NP_001835.3:p.(Gly738=)	NC_000012.11:g.48376372G>C	(Likely) benign	1 lab	425a5c8c96
10:48389442 RBP3 C>T	10	48389442	48389442	C	T	RBP3	c.1436G>A	NM_002900.3	NP_002891.1:p.(Arg479His)	NC_000010.10:g.48389442C>T	VUS	1 lab	425b056274
2:21229895 APOB C>G	2	21229895	21229895	C	G	APOB	c.9845G>C	NM_000384.3	NP_000375.3:p.(Ser3282Thr)	NC_000002.11:g.21229895C>G	VUS	1 lab	425cf91bc3
9:107571826 ABCA1 T>A	9	107571826	107571826	T	A	ABCA1	c.4195A>T	NM_005502.4	NP_005493.2:p.(Thr1399Ser)	NC_000009.11:g.107571826T>A	VUS	1 lab	425eb7f9b4
1:21902504 ALPL C>A	1	21902504	21902504	C	A	ALPL	c.1189+87C>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21902504C>A	(Likely) benign	1 lab	426036d6f1
11:129801022 PRDM10 T>C	11	129801022	129801022	T	C	PRDM10	c.1419A>G	NM_020228.3	NP_064613.2:p.(Glu473=)	NC_000011.9:g.129801022T>C	(Likely) benign	1 lab	4260ed9d25
5:13820457 DNAH5 G>A	5	13820457	13820457	G	A	DNAH5	c.6839C>T	NM_001369.3	NP_001360.1:p.(Thr2280Ile)	NC_000005.9:g.13820457G>A	VUS	1 lab	426173685e
11:46725885 ZNF408 C>T	11	46725885	46725885	C	T	ZNF408	c.653-18C>T	NM_024741.3	NP_079017.1:p.?	NC_000011.9:g.46725885C>T	(Likely) benign	1 lab	42675de562
14:78021674 SPTLC2 C>A	14	78021674	78021674	C	A	SPTLC2	c.1145G>T	NM_004863.4	NP_004854.1:p.(Gly382Val)	NC_000014.8:g.78021674C>A	(Likely) pathogenic	1 lab	4267e839ea
4:114277776 ANK2 C>A	4	114277776	114277776	C	A	ANK2	c.8002C>A	NM_001148.6	NP_001139.3:p.(Pro2668Thr)	NC_000004.11:g.114277776C>A	VUS	1 lab	426a4954b0
6:123592291 TRDN T>G	6	123592291	123592291	T	G	TRDN	c.1713A>C	NM_006073.4	NP_006064.2:p.(Glu571Asp)	NC_000006.11:g.123592291T>G	(Likely) benign	1 lab	426bf41f7d
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+24_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948346_133948371dup	(Likely) benign	1 lab	426e2fc3dc
2:21233458 APOB G>A	2	21233458	21233458	G	A	APOB	c.6282C>T	NM_000384.3	NP_000375.3:p.(Asn2094=)	NC_000002.11:g.21233458G>A	(Likely) benign	1 lab	427003457d
1:145304529 NBPF10 T>C	1	145304529	145304529	T	C	NBPF10	c.1462T>C	NM_001039703.6	NP_001034792.4:p.(Ser488Pro)	NC_000001.10:g.145304529T>C	(Likely) benign	1 lab	4271e81e1d
6:56481767 DST C>T	6	56481767	56481767	C	T	DST	c.6498G>A	NM_001723.7	NP_001714.1:p.(Val2166=)	NC_000006.11:g.56481767C>T	(Likely) benign	1 lab	4276044efd
3:71026172 FOXP1 T>A	3	71026172	71026172	T	A	FOXP1	c.1447A>T	NM_001244808.3	NP_001231737.1:p.(Lys483Ter)	NC_000003.11:g.71026172T>A	(Likely) pathogenic	1 lab	427676a854
12:88533262 CEP290 A>G	12	88533262	88533262	A	G	CEP290	c.250+10T>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88533262A>G	(Likely) benign	1 lab	427722de9b
14:45636328 FANCM A>G	14	45636328	45636328	A	G	FANCM	c.1964A>G	NM_020937.4	NP_065988.1:p.(Asn655Ser)	NC_000014.8:g.45636328A>G	(Likely) benign	1 lab	4277832785
3:123021952 ADCY5 C>T	3	123021952	123021952	C	T	ADCY5	c.2674G>A	NM_183357.3	NP_899200.1:p.(Asp892Asn)	NC_000003.11:g.123021952C>T	VUS	1 lab	4278c05307
7:151269792 PRKAG2 G>T	7	151269792	151269792	G	T	PRKAG2	c.1009C>A	NM_016203.4	NP_057287.2:p.(Gln337Lys)	NC_000007.13:g.151269792G>T	VUS	1 lab	427edf1d30
11:47370459 MYBPC3 T>TTATATATATACATATA	11	47370459	47370470	T	TTATATATATACATATA	MYBPC3	c.655-368_655-367insTATATGTATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370469_47370470insCATATATATATATATA	(Likely) benign	1 lab	4281a6ef07
2:1652983 PXDN A>AG	2	1652983	1652990	A	AG	PXDN	c.2568dup	NM_012293.3	NP_036425.1:p.(Cys857LeufsTer10)	NC_000002.11:g.1652990dup	(Likely) pathogenic	1 lab	42841055f2
3:10264338 IRAK2 C>T	3	10264338	10264338	C	T	IRAK2	c.1032C>T	NM_001570.4	NP_001561.3:p.(Asp344=)	NC_000003.11:g.10264338C>T	(Likely) benign	1 lab	42848dc1ee
X:153490564 OPN1MW2 G>A	X	153490564	153490564	G	A	OPN1MW2	c.300G>A	NM_001048181.2	NP_001041646.1:p.(Leu100=)	NC_000023.10:g.153490564G>A	(Likely) benign	1 lab	4286cc4e24
15:58834756 LIPC C>T	15	58834756	58834756	C	T	LIPC	c.480C>T	NM_000236.3	NP_000227.2:p.(Ser160=)	NC_000015.9:g.58834756C>T	(Likely) benign	1 lab	42870f2584
12:125298925 SCARB1 C>T	12	125298925	125298925	C	T	SCARB1	c.453G>A	NM_001367981.1	NP_001354910.1:p.(Lys151=)	NC_000012.11:g.125298925C>T	(Likely) benign	1 lab	4289e550b5
14:21811302 RPGRIP1 C>T	14	21811302	21811302	C	T	RPGRIP1	c.3447C>T	NM_020366.4	NP_065099.3:p.(Tyr1149=)	NC_000014.8:g.21811302C>T	(Likely) benign	1 lab	4289fa2618
1:94496611 ABCA4 G>A	1	94496611	94496611	G	A	ABCA4	c.4194C>T	NM_000350.3	NP_000341.2:p.(Gly1398=)	NC_000001.10:g.94496611G>A	(Likely) benign	1 lab	428bfd4839
5:98195680 CHD1 G>C	5	98195680	98195680	G	C	CHD1	c.4784C>G	NM_001364113.3	NP_001351042.1:p.(Ser1595Cys)	NC_000005.9:g.98195680G>C	VUS	1 lab	428e3d417a
20:34067910 CEP250 T>G	20	34067910	34067910	T	G	CEP250	c.2526T>G	NM_007186.6	NP_009117.2:p.(Thr842=)	NC_000020.10:g.34067910T>G	(Likely) benign	1 lab	428f589894
2:85768736 MAT2A G>A	2	85768736	85768736	G	A	MAT2A	c.293-20G>A	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85768736G>A	(Likely) benign	1 lab	428fbcb30d
12:8758028 AICDA T>C	12	8758028	8758028	T	C	AICDA	c.210A>G	NM_020661.4	NP_065712.1:p.(Leu70=)	NC_000012.11:g.8758028T>C	(Likely) benign	1 lab	4290aa4af3
2:179592347 TTN C>G	2	179592347	179592347	C	G	TTN	c.19958G>C	NM_001267550.2	NP_001254479.2:p.(Gly6653Ala)	NC_000002.11:g.179592347C>G	VUS	1 lab	4291a4335e
3:183246451 MISSING C>Alt too long to show for this DUP	3	183246451	183420725	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.183246452_183420725dup	VUS	1 lab	4292f5865c
1:43392754 SLC2A1 G>A	1	43392754	43392754	G	A	SLC2A1	c.1437C>T	NM_006516.4	NP_006507.2:p.(Pro479=)	NC_000001.10:g.43392754G>A	(Likely) benign	1 lab	4297fefcb1
12:21329824 SLCO1B1 G>A	12	21329824	21329824	G	A	SLCO1B1	c.474G>A	NM_006446.5	NP_006437.3:p.(Val158=)	NC_000012.11:g.21329824G>A	(Likely) benign	1 lab	4299570e0c
8:24813749 NEFL A>T	8	24813749	24813749	A	T	NEFL	c.281T>A	NM_006158.5	NP_006149.2:p.(Leu94His)	NC_000008.10:g.24813749A>T	VUS	1 lab	429d675de3
2:179596987 TTN G>A	2	179596987	179596987	G	A	TTN	c.16709C>T	NM_001267550.2	NP_001254479.2:p.(Thr5570Ile)	NC_000002.11:g.179596987G>A	VUS	1 lab	429d87c7a1
8:1876766 ARHGEF10 C>A	8	1876766	1876766	C	A	ARHGEF10	c.2943C>A	NM_001308153.2	NP_001295082.1:p.(Ala981=)	NC_000008.10:g.1876766C>A	(Likely) benign	1 lab	429ed9c70b
11:102201850 BIRC3 G>A	11	102201850	102201850	G	A	BIRC3	c.1202G>A	NM_001165.5	NP_001156.1:p.(Arg401Lys)	NC_000011.9:g.102201850G>A	(Likely) benign	1 lab	429f28949d
7:91630532 AKAP9 G>A	7	91630532	91630532	G	A	AKAP9	c.1301G>A	NM_005751.5	NP_005742.4:p.(Arg434Gln)	NC_000007.13:g.91630532G>A	(Likely) benign	1 lab	42a42eca22
1:43212930 P3H1 G>C	1	43212930	43212930	G	C	P3H1	c.2055+13C>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43212930G>C	(Likely) benign	1 lab	42a7876634
2:44071053 MISSING G>Alt too long to show for this DUP	2	44071053	44258720	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.44071055_44258720dup	(Likely) pathogenic	1 lab	42aab9c903
X:70443839 GJB1 C>G	X	70443839	70443839	C	G	GJB1	c.282C>G	NM_000166.6	NP_000157.1:p.(His94Gln)	NC_000023.10:g.70443839C>G	(Likely) pathogenic	1 lab	42af247dc1
12:21294577 SLCO1B1 C>T	12	21294577	21294577	C	T	SLCO1B1	c.69C>T	NM_006446.5	NP_006437.3:p.(Tyr23=)	NC_000012.11:g.21294577C>T	(Likely) benign	1 lab	42b1fc439a
6:112496534 LAMA4 C>T	6	112496534	112496534	C	T	LAMA4	c.1317G>A	NM_002290.5	NP_002281.3:p.(Glu439=)	NC_000006.11:g.112496534C>T	(Likely) benign	1 lab	42b2025db7
2:72802639 EXOC6B G>A	2	72802639	72802639	G	A	EXOC6B	c.828C>T	NM_015189.3	NP_056004.1:p.(Asp276=)	NC_000002.11:g.72802639G>A	(Likely) benign	1 lab	42b32cbd09
18:66247879 MISSING A>Alt too long to show for this DUP	18	66247879	66620521	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.66247880_66620521dup	VUS	1 lab	42b3695edb
5:149433696 CSF1R G>A	5	149433696	149433696	G	A	CSF1R	c.2855C>T	NM_005211.4	NP_005202.2:p.(Thr952Ile)	NC_000005.9:g.149433696G>A	(Likely) benign	1 lab	42b54ad81b
2:179476144 TTN C>G	2	179476144	179476144	C	G	TTN	c.50812G>C	NM_001267550.2	NP_001254479.2:p.(Glu16938Gln)	NC_000002.11:g.179476144C>G	VUS	1 lab	42b54b166e
17:48265476 COL1A1 AC>A	17	48265476	48265477	AC	A	COL1A1	c.3241del	NM_000088.4	NP_000079.2:p.(Val1081LeufsTer27)	NC_000017.10:g.48265477del	(Likely) pathogenic	1 lab	42b8ff475d
4:153303477 FBXW7 G>A	4	153303477	153303477	G	A	FBXW7	c.11C>T	NM_001013415.2	NP_001013433.1:p.(Pro4Leu)	NC_000004.11:g.153303477G>A	VUS	1 lab	42bbf12225
14:102478802 DYNC1H1 C>T	14	102478802	102478802	C	T	DYNC1H1	c.7009C>T	NM_001376.5	NP_001367.2:p.(Pro2337Ser)	NC_000014.8:g.102478802C>T	VUS	1 lab	42bda16d9d
6:16145349 MYLIP C>T	6	16145349	16145349	C	T	MYLIP	c.1049C>T	NM_013262.4	NP_037394.2:p.(Pro350Leu)	NC_000006.11:g.16145349C>T	VUS	1 lab	42bfac67e2
7:91624931 AKAP9 A>G	7	91624931	91624931	A	G	AKAP9	c.747A>G	NM_005751.5	NP_005742.4:p.(Glu249=)	NC_000007.13:g.91624931A>G	(Likely) benign	1 lab	42bfe0f9ae
2:145006398 MISSING C>Alt too long to show for this DUP	2	145006398	145144022	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.145006400_145144022dup	VUS	1 lab	42c14aa9a5
1:236900597 ACTN2 GCA>G	1	236900597	236900599	GCA	G	ACTN2	c.876+84_876+85del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900598_236900599del	(Likely) benign	1 lab	42c50f21c5
2:179598194 TTN C>T	2	179598194	179598194	C	T	TTN	c.15826G>A	NM_001267550.2	NP_001254479.2:p.(Asp5276Asn)	NC_000002.11:g.179598194C>T	VUS	1 lab	42c8920547
16:86586696 MISSING A>Alt too long to show for this DUP	16	86586696	86694422	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.86586697_86694422dup	VUS	1 lab	42cc49763c
16:14026008 ERCC4 T>C	16	14026008	14026008	T	C	ERCC4	c.974-6T>C	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14026008T>C	(Likely) benign	1 lab	42cca02b17
9:130605433 ENG G>A	9	130605433	130605433	G	A	ENG	c.159C>T	NM_000118.3	NP_000109.1:p.(Cys53=)	NC_000009.11:g.130605433G>A	(Likely) benign	1 lab	42cea0a3a6
17:76800004 USP36 T>G	17	76800004	76800004	T	G	USP36	c.2273A>C	NM_001321291.2	NP_001308220.1:p.(His758Pro)	NC_000017.10:g.76800004T>G	(Likely) benign	1 lab	42d20e466f
16:984230 LMF1 T>C	16	984230	984230	T	C	LMF1	c.-178A>G	NM_001352021.2	NP_001338950.1:p.?	NC_000016.9:g.984230T>C	VUS	1 lab	42d6b39241
1:55525868 PCSK9 C>T	1	55525868	55525868	C	T	PCSK9	c.1681+532C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525868C>T	(Likely) benign	1 lab	42d7087b63
16:79633238 MAF CGTG>C	16	79633238	79633258	CGTG	C	MAF	c.559_561del	NM_001031804.3	NP_001026974.1:p.(His187del)	NC_000016.9:g.79633256_79633258del	(Likely) benign	1 lab	42e07678ea
13:32914935 BRCA2 C>A	13	32914935	32914935	C	A	BRCA2	c.6443C>A	NM_000059.4	NP_000050.3:p.(Ser2148Tyr)	NC_000013.10:g.32914935C>A	(Likely) benign	1 lab	42e19288ed
X:77254091 ATP7A A>G	X	77254091	77254091	A	G	ATP7A	c.1453A>G	NM_000052.7	NP_000043.4:p.(Lys485Glu)	NC_000023.10:g.77254091A>G	VUS	1 lab	42e674130b
11:47358035 MYBPC3 C>T	11	47358035	47358035	C	T	MYBPC3	c.2603-473G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358035C>T	(Likely) benign	1 lab	42e6928c5b
22:38522430 PLA2G6 G>A	22	38522430	38522430	G	A	PLA2G6	c.841C>T	NM_001349867.2	NP_001336796.1:p.(Arg281Trp)	NC_000022.10:g.38522430G>A	VUS	1 lab	42e71eb595
1:177929579 SEC16B C>A	1	177929579	177929579	C	A	SEC16B	c.937-41G>T	NM_033127.4	NP_149118.2:p.?	NC_000001.10:g.177929579C>A	(Likely) benign	1 lab	42ecae4dd2
19:16606920 CALR3 C>G	19	16606920	16606920	C	G	CALR3	c.21G>C	NM_145046.5	NP_659483.2:p.(Gln7His)	NC_000019.9:g.16606920C>G	VUS	1 lab	42ef5be5ff
12:125296080 SCARB1 A>G	12	125296080	125296080	A	G	SCARB1	c.726+336T>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296080A>G	(Likely) benign	1 lab	42efe3015a
11:67222963 CABP4 G>A	11	67222963	67222963	G	A	CABP4	c.69G>A	NM_145200.5	NP_660201.1:p.(Ala23=)	NC_000011.9:g.67222963G>A	(Likely) benign	1 lab	42f33d4d37
11:47355549 MYBPC3 A>G	11	47355549	47355549	A	G	MYBPC3	c.2918T>C	NM_000256.3	NP_000247.2:p.(Leu973Pro)	NC_000011.9:g.47355549A>G	VUS	1 lab	42f41fa219
19:11218208 LDLR C>T	19	11218208	11218208	C	T	LDLR	c.940+18C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218208C>T	VUS	1 lab	42f50c96ec
1:46804031 MISSING Ref too long to show for this DEL>A	1	46804031	46834580	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.46804033_46834580del	VUS	1 lab	42f5b9e32e
4:149075970 NR3C2 T>G	4	149075970	149075970	T	G	NR3C2	c.2097A>C	NM_000901.5	NP_000892.2:p.(Pro699=)	NC_000004.11:g.149075970T>G	(Likely) benign	1 lab	4322e6f3a7
12:131094941 RIMBP2 Ref too long to show for this DEL>T	12	131094941	131133040	Ref too long to show for this DEL	T	RIMBP2	c.-351-20038_-217+17925del	NM_001393629.1	NP_001380558.1:p.?	NC_000012.11:g.131094943_131133040del	VUS	1 lab	42f9be2127
1:155638402 YY1AP1 T>C	1	155638402	155638402	T	C	YY1AP1	c.1293+16A>G	NM_001198903.1	NP_001185832.1:p.?	NC_000001.10:g.155638402T>C	(Likely) benign	1 lab	42fab4f413
12:6690519 CHD4 CTTT>C	12	6690519	6690522	CTTT	C	CHD4	c.4714_4716del	NM_001273.5	NP_001264.2:p.(Lys1572del)	NC_000012.11:g.6690520_6690522del	VUS	1 lab	42fd3951c5
1:161276633 MPZ G>T	1	161276633	161276633	G	T	MPZ	c.313C>A	NM_000530.8	NP_000521.2:p.(Pro105Thr)	NC_000001.10:g.161276633G>T	(Likely) pathogenic	1 lab	42fda4d12a
6:75865644 COL12A1 C>A	6	75865644	75865644	C	A	COL12A1	c.3251-74G>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75865644C>A	(Likely) benign	1 lab	4305cb30ea
8:12225908 MISSING A>Alt too long to show for this DUP	8	12225908	12322578	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.12225910_12322578dup	(Likely) pathogenic	1 lab	4307292a5d
10:76789561 KAT6B A>G	10	76789561	76789561	A	G	KAT6B	c.4979A>G	NM_012330.4	NP_036462.2:p.(Gln1660Arg)	NC_000010.10:g.76789561A>G	VUS	1 lab	43085e1b2b
10:75830251 VCL T>C	10	75830251	75830251	T	C	VCL	c.240-177T>C	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75830251T>C	VUS	1 lab	4309584e03
X:135956342 RBMX C>G	X	135956342	135956342	C	G	RBMX	c.1135G>C	NM_002139.4	NP_002130.2:p.(Gly379Arg)	NC_000023.10:g.135956342C>G	(Likely) benign	1 lab	430a93a7fb
7:72682209 MISSING Ref too long to show for this DEL>G	7	72682209	74167835	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72682210_74167835del	(Likely) pathogenic	1 lab	430d3cc9a4
4:100528154 MTTP G>GAA	4	100528154	100528165	G	GAA	MTTP	c.1557+47_1557+48dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528164_100528165dup	(Likely) benign	1 lab	430dc438d1
22:21344808 LZTR1 A>G	22	21344808	21344808	A	G	LZTR1	c.785A>G	NM_006767.4	NP_006758.2:p.(Asp262Gly)	NC_000022.10:g.21344808A>G	(Likely) benign	1 lab	430deb2e39
15:85400517 ALPK3 A>G	15	85400517	85400517	A	G	ALPK3	c.2548A>G	NM_020778.5	NP_065829.4:p.(Met850Val)	NC_000015.9:g.85400517A>G	VUS	1 lab	430e6b5743
13:71350901 MISSING Ref too long to show for this DEL>A	13	71350901	72442980	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.71350902_72442980del	VUS	1 lab	430f8e87b5
11:47357121 MYBPC3 G>A	11	47357121	47357121	G	A	MYBPC3	c.2737+307C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357121G>A	(Likely) benign	1 lab	43100e985d
2:179406191 TTN C>T	2	179406191	179406191	C	T	TTN	c.97613G>A	NM_001267550.2	NP_001254479.2:p.(Arg32538His)	NC_000002.11:g.179406191C>T	(Likely) benign	1 lab	431141e410
9:119484230 ASTN2 Ref too long to show for this DEL>T	9	119484230	119540695	Ref too long to show for this DEL	T	ASTN2	c.2396+27216_2806+3819del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119484231_119540695del	(Likely) pathogenic	1 lab	4311a1a4af
19:11231155 LDLR G>A	19	11231155	11231155	G	A	LDLR	c.2097G>A	NM_000527.5	NP_000518.1:p.(Pro699=)	NC_000019.9:g.11231155G>A	VUS	1 lab	431259aba9
7:94039080 COL1A2 G>A	7	94039080	94039080	G	A	COL1A2	c.982G>A	NM_000089.4	NP_000080.2:p.(Gly328Ser)	NC_000007.13:g.94039080G>A	(Likely) pathogenic	1 lab	4313c6a958
13:32929178 BRCA2 G>A	13	32929178	32929178	G	A	BRCA2	c.7188G>A	NM_000059.4	NP_000050.3:p.(Leu2396=)	NC_000013.10:g.32929178G>A	(Likely) benign	1 lab	4314544b54
7:128477309 FLNC C>T	7	128477309	128477309	C	T	FLNC	c.697C>T	NM_001458.5	NP_001449.3:p.(Gln233Ter)	NC_000007.13:g.128477309C>T	(Likely) pathogenic	1 lab	431a99025f
13:115090318 CHAMP1 G>A	13	115090318	115090318	G	A	CHAMP1	c.1001G>A	NM_032436.4	NP_115812.1:p.(Trp334Ter)	NC_000013.10:g.115090318G>A	(Likely) pathogenic	1 lab	431d1a87b4
X:53384637 MISSING C>Alt too long to show for this DUP	X	53384637	53611573	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.53384638_53611573dup	VUS	1 lab	431d3f3873
2:241679560 KIF1A C>T	2	241679560	241679560	C	T	KIF1A	c.3817-1G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241679560C>T	VUS	1 lab	432791067a
10:48385833 RBP3 C>A	10	48385833	48385833	C	A	RBP3	c.3245+14G>T	NM_002900.3	NP_002891.1:p.?	NC_000010.10:g.48385833C>A	(Likely) benign	1 lab	432c253118
1:201052301 CACNA1S G>A	1	201052301	201052301	G	A	CACNA1S	c.1382C>T	NM_000069.3	NP_000060.2:p.(Thr461Ile)	NC_000001.10:g.201052301G>A	VUS	1 lab	432f2f9bee
8:59407210 CYP7A1 G>A	8	59407210	59407210	G	A	CYP7A1	c.909-15C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59407210G>A	(Likely) benign	1 lab	4332d52311
16:16313653 ABCC6 G>A	16	16313653	16313653	G	A	ABCC6	c.345+26C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16313653G>A	(Likely) benign	1 lab	433417364c
14:76211845 TTLL5 C>T	14	76211845	76211845	C	T	TTLL5	c.1408C>T	NM_015072.5	NP_055887.3:p.(Arg470Ter)	NC_000014.8:g.76211845C>T	(Likely) pathogenic	1 lab	4334489668
6:75839943 COL12A1 C>T	6	75839943	75839943	C	T	COL12A1	c.6074G>A	NM_004370.6	NP_004361.3:p.(Arg2025His)	NC_000006.11:g.75839943C>T	VUS	1 lab	43352a0793
10:68040230 CTNNA3 G>A	10	68040230	68040230	G	A	CTNNA3	c.1882C>T	NM_013266.4	NP_037398.2:p.(Arg628Trp)	NC_000010.10:g.68040230G>A	VUS	1 lab	4336705752
7:21611476 DNAH11 G>A	7	21611476	21611476	G	A	DNAH11	c.1478G>A	NM_001277115.2	NP_001264044.1:p.(Gly493Asp)	NC_000007.13:g.21611476G>A	VUS	1 lab	43393952c6
1:161276579 MPZ C>A	1	161276579	161276579	C	A	MPZ	c.367G>T	NM_000530.8	NP_000521.2:p.(Gly123Cys)	NC_000001.10:g.161276579C>A	(Likely) pathogenic	1 lab	433ac14a1f
11:108164155 ATM T>C	11	108164155	108164155	T	C	ATM	c.4727T>C	NM_000051.4	NP_000042.3:p.(Ile1576Thr)	NC_000011.9:g.108164155T>C	VUS	1 lab	4341399b51
9:79891031 VPS13A A>G	9	79891031	79891031	A	G	VPS13A	c.2718A>G	NM_033305.3	NP_150648.2:p.(Val906=)	NC_000009.11:g.79891031A>G	(Likely) benign	1 lab	4341dfa2e9
6:7565735 DSP G>A	6	7565735	7565735	G	A	DSP	c.921G>A	NM_004415.4	NP_004406.2:p.(Gln307=)	NC_000006.11:g.7565735G>A	(Likely) benign	1 lab	4342eb73fd
X:133547536 PHF6 G>A	X	133547536	133547536	G	A	PHF6	c.434G>A	NM_032458.3	NP_115834.1:p.(Ser145Asn)	NC_000023.10:g.133547536G>A	VUS	1 lab	43466fe492
15:63349196 TPM1 G>A	15	63349196	63349196	G	A	TPM1	c.253G>A	NM_001365776.1	NP_001352705.1:p.(Val85Ile)	NC_000015.9:g.63349196G>A	VUS	1 lab	434a240953
11:47365685 MYBPC3 C>T	11	47365685	47365685	C	T	MYBPC3	c.1091-510G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365685C>T	(Likely) benign	1 lab	434a878212
20:60908197 LAMA5 C>T	20	60908197	60908197	C	T	LAMA5	c.3231G>A	NM_005560.6	NP_005551.3:p.(Thr1077=)	NC_000020.10:g.60908197C>T	VUS	1 lab	434b4df273
17:26727721 SLC46A1 GA>G	17	26727721	26727723	GA	G	SLC46A1	c.1226_1227=	NM_080669.6	NP_542400.2:p.(Ile409=)	NC_000017.10:g.26727723del	(Likely) benign	1 lab	434f3866de
7:73470749 ELN G>A	7	73470749	73470749	G	A	ELN	c.1299G>A	NM_000501.4	NP_000492.2:p.(Pro433=)	NC_000007.13:g.73470749G>A	(Likely) benign	1 lab	4351956078
2:21229460 APOB G>T	2	21229460	21229460	G	T	APOB	c.10280C>A	NM_000384.3	NP_000375.3:p.(Thr3427Lys)	NC_000002.11:g.21229460G>T	VUS	1 lab	43525e812a
15:85360121 ALPK3 T>TGGCGA	15	85360121	85360129	T	TGGCGA	ALPK3				NC_000015.9:g.85360125_85360129dup	(Likely) benign	1 lab	435c83a70c
22:50892989 SBF1 G>A	22	50892989	50892989	G	A	SBF1	c.4995C>T	NM_002972.4	NP_002963.2:p.(Tyr1665=)	NC_000022.10:g.50892989G>A	(Likely) benign	1 lab	435c9294db
19:11233998 LDLR G>T	19	11233998	11233998	G	T	LDLR	c.2289G>T	NM_000527.5	NP_000518.1:p.(Glu763Asp)	NC_000019.9:g.11233998G>T	(Likely) benign	1 lab	43606e33fa
2:21239773 APOB A>G	2	21239773	21239773	A	G	APOB	c.3122-252T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239773A>G	(Likely) benign	1 lab	4365897e75
10:28283981 ODAD2 A>G	10	28283981	28283981	A	G	ODAD2	c.91T>C	NM_001290020.2	NP_001276949.1:p.(Leu31=)	NC_000010.10:g.28283981A>G	(Likely) benign	1 lab	4365f78d33
12:49425621 KMT2D G>A	12	49425621	49425621	G	A	KMT2D	c.12867C>T	NM_003482.4	NP_003473.3:p.(Leu4289=)	NC_000012.11:g.49425621G>A	(Likely) benign	1 lab	4367419766
1:6158540 KCNAB2 C>T	1	6158540	6158540	C	T	KCNAB2	c.1015-5C>T	NM_003636.4	NP_003627.1:p.?	NC_000001.10:g.6158540C>T	(Likely) benign	1 lab	4369b3bdec
19:11216099 LDLR TG>T	19	11216099	11216100	TG	T	LDLR	c.518del	NM_000527.5	NP_000518.1:p.(Cys173SerfsTer33)	NC_000019.9:g.11216100del	(Likely) pathogenic	1 lab	436a61aa54
2:24929824 NCOA1 T>C	2	24929824	24929824	T	C	NCOA1	c.1485T>C	NM_001362950.1	NP_001349879.1:p.(Ser495=)	NC_000002.11:g.24929824T>C	(Likely) benign	1 lab	436a9b390a
3:37365630 GOLGA4 G>A	3	37365630	37365630	G	A	GOLGA4	c.2253G>A	NM_002078.5	NP_002069.2:p.(Glu751=)	NC_000003.11:g.37365630G>A	(Likely) benign	1 lab	437aed2954
11:65315049 LTBP3 G>C	11	65315049	65315049	G	C	LTBP3	c.1979-11C>G	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65315049G>C	(Likely) benign	1 lab	4370a54e03
8:1842581 ARHGEF10 A>T	8	1842581	1842581	A	T	ARHGEF10	c.1358A>T	NM_001308153.2	NP_001295082.1:p.(Glu453Val)	NC_000008.10:g.1842581A>T	VUS	1 lab	4370e07e15
1:197297841 CRB1 AC>A	1	197297841	197297842	AC	A	CRB1	c.154del	NM_001257965.2	NP_001244894.1:p.(His52MetfsTer27)	NC_000001.10:g.197297842del	(Likely) pathogenic	1 lab	4370f99950
4:100513183 MTTP A>G	4	100513183	100513183	A	G	MTTP	c.758+236A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100513183A>G	(Likely) benign	1 lab	4371e2a613
11:111586874 MISSING Ref too long to show for this DEL>A	11	111586874	117993481	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.111586875_117993481del	(Likely) pathogenic	1 lab	437383c7e9
19:3637456 PIP5K1C C>T	19	3637456	3637456	C	T	PIP5K1C	c.2076G>A	NM_001300849.2	NP_001287778.1:p.(Pro692=)	NC_000019.9:g.3637456C>T	(Likely) benign	1 lab	437486678d
9:107548685 ABCA1 GAA>G	9	107548685	107548688	GAA	G	ABCA1	c.6309-16_6309-15del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548687_107548688del	(Likely) benign	1 lab	43748db970
1:6529186 PLEKHG5 TC>T	1	6529186	6529188	TC	T	PLEKHG5	c.2164del	NM_198681.4	NP_941374.3:p.(Glu722ArgfsTer43)	NC_000001.10:g.6529188del	(Likely) benign	1 lab	4375788f38
3:30713989 TGFBR2 G>A	3	30713989	30713989	G	A	TGFBR2	c.1254+60G>A	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30713989G>A	(Likely) benign	1 lab	437793d7ff
18:3457695 TGIF1 C>T	18	3457695	3457695	C	T	TGIF1	c.618C>T	NM_173207.4	NP_775299.1:p.(Val206=)	NC_000018.9:g.3457695C>T	(Likely) benign	1 lab	43785dab49
14:88459351 GALC C>G	14	88459351	88459351	C	G	GALC	c.158G>C	NM_000153.4	NP_000144.2:p.(Arg53Pro)	NC_000014.8:g.88459351C>G	VUS	1 lab	437ae7096d
7:151878460 KMT2C G>A	7	151878460	151878460	G	A	KMT2C	c.6485C>T	NM_170606.3	NP_733751.2:p.(Pro2162Leu)	NC_000007.13:g.151878460G>A	VUS	1 lab	437aed0454
X:139631528 MISSING T>Alt too long to show for this DUP	X	139631528	139920634	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.139631529_139920634dup	VUS	1 lab	43f814d98a
12:125323777 SCARB1 C>G	12	125323777	125323777	C	G	SCARB1	c.127-21524G>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125323777C>G	VUS	1 lab	437af5130e
15:63358078 TPM1 T>C	15	63358078	63358078	T	C	TPM1	c.*45-17T>C	NM_000366.6	NP_000357.3:p.?	NC_000015.9:g.63358078T>C	(Likely) benign	1 lab	438170f2fa
8:144808491 SACK1H A>T	8	144808491	144808491	A	T	SACK1H	c.3140T>A	NM_198488.5	NP_940890.4:p.(Ile1047Asn)	NC_000008.10:g.144808491A>T	VUS	1 lab	43845b3190
14:23899757 MYH7 T>C	14	23899757	23899757	T	C	MYH7	c.999+12A>G	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23899757T>C	(Likely) benign	1 lab	43856e88c4
1:25889608 LDLRAP1 G>A	1	25889608	25889608	G	A	LDLRAP1	c.580G>A	NM_015627.3	NP_056442.2:p.(Gly194Arg)	NC_000001.10:g.25889608G>A	VUS	1 lab	43876b77f2
2:189871040 COL3A1 G>A	2	189871040	189871040	G	A	COL3A1	c.3094-31G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871040G>A	(Likely) benign	1 lab	4395780248
3:10088285 FANCD2 T>G	3	10088285	10088285	T	G	FANCD2	c.1156T>G	NM_033084.6	NP_149075.2:p.(Phe386Val)	NC_000003.11:g.10088285T>G	(Likely) benign	1 lab	4397dffc62
11:108383985 EXPH5 G>T	11	108383985	108383985	G	T	EXPH5	c.2249C>A	NM_015065.3	NP_055880.2:p.(Ser750Ter)	NC_000011.9:g.108383985G>T	(Likely) pathogenic	1 lab	4398803b1f
6:16146977 MYLIP A>G	6	16146977	16146977	A	G	MYLIP	c.1333A>G	NM_013262.4	NP_037394.2:p.(Ile445Val)	NC_000006.11:g.16146977A>G	(Likely) benign	1 lab	4398d53e85
2:219677470 CYP27A1 T>C	2	219677470	219677470	T	C	CYP27A1	c.842T>C	NM_000784.4	NP_000775.1:p.(Phe281Ser)	NC_000002.11:g.219677470T>C	VUS	1 lab	439ac71b79
12:125294704 SCARB1 G>A	12	125294704	125294704	G	A	SCARB1	c.842+16C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125294704G>A	(Likely) benign	1 lab	439cc494fa
16:75573952 TMEM231 C>T	16	75573952	75573952	C	T	TMEM231	c.891G>A	NM_001077418.3	NP_001070886.1:p.(Val297=)	NC_000016.9:g.75573952C>T	(Likely) benign	1 lab	439fdf875c
19:55370551 KIR3DL2 TGG>T	19	55370551	55370553	TGG	T	KIR3DL2	c.968_969del	NM_006737.4	NP_006728.2:p.(Trp323SerfsTer62)	NC_000019.9:g.55370552_55370553del	(Likely) benign	1 lab	43a11a4afc
3:57857439 SLMAP A>G	3	57857439	57857439	A	G	SLMAP	c.1198+14A>G	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57857439A>G	(Likely) benign	1 lab	43b1bf1e8a
15:63349165 TPM1 C>G	15	63349165	63349165	C	G	TPM1	c.241-19C>G	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63349165C>G	(Likely) benign	1 lab	43a156a8ab
19:13323262 CACNA1A G>A	19	13323262	13323262	G	A	CACNA1A	c.6125C>T	NM_001127222.2	NP_001120694.1:p.(Thr2042Met)	NC_000019.9:g.13323262G>A	VUS	1 lab	43a58c46c1
2:179598114 TTN G>A	2	179598114	179598114	G	A	TTN	c.15906C>T	NM_001267550.2	NP_001254479.2:p.(Val5302=)	NC_000002.11:g.179598114G>A	(Likely) benign	1 lab	43a7c685ad
12:5021464 KCNA1 G>A	12	5021464	5021464	G	A	KCNA1	c.920G>A	NM_000217.3	NP_000208.2:p.(Arg307His)	NC_000012.11:g.5021464G>A	VUS	1 lab	43a8763cf7
3:38597989 SCN5A GAAGA>G	3	38597989	38597997	GAAGA	G	SCN5A	c.4376_4379del	NM_001099404.2	NP_001092874.1:p.(Phe1459SerfsTer3)	NC_000003.11:g.38597994_38597997del	(Likely) benign	1 lab	43a887f9e1
1:240370980 FMN2 G>A	1	240370980	240370980	G	A	FMN2	c.2880G>A	NM_001305424.2	NP_001292353.1:p.(Pro960=)	NC_000001.10:g.240370980G>A	(Likely) benign	1 lab	43aeaae414
16:67976395 LCAT C>T	16	67976395	67976395	C	T	LCAT	c.619G>A	NM_000229.2	NP_000220.1:p.(Gly207Ser)	NC_000016.9:g.67976395C>T	(Likely) pathogenic	1 lab	43afbcb1de
6:7558740 DSP CTTTTTTTTTTT>C	6	7558740	7558765	CTTTTTTTTTTT	C	DSP	c.422+258_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558755_7558765del	(Likely) benign	1 lab	43affec335
16:57005908 CETP C>A	16	57005908	57005908	C	A	CETP	c.663C>A	NM_000078.3	NP_000069.2:p.(Ser221Arg)	NC_000016.9:g.57005908C>A	(Likely) benign	1 lab	43b21e33e7
16:919365 LMF1 G>A	16	919365	919365	G	A	LMF1	c.1417-309C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.919365G>A	(Likely) benign	1 lab	43b24c28e2
2:21235114 APOB G>T	2	21235114	21235114	G	T	APOB	c.4626C>A	NM_000384.3	NP_000375.3:p.(Leu1542=)	NC_000002.11:g.21235114G>T	(Likely) benign	1 lab	43b6cd5b56
18:47113231 LIPG C>T	18	47113231	47113231	C	T	LIPG	c.1481+11C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47113231C>T	(Likely) benign	1 lab	43b9025da0
3:108102580 MYH15 T>A	3	108102580	108102580	T	A	MYH15	c.5692-4A>T	NM_014981.2	NP_055796.1:p.?	NC_000003.11:g.108102580T>A	(Likely) benign	1 lab	43bf764b23
9:137672015 COL5A1 G>A	9	137672015	137672015	G	A	COL5A1	c.2430+23G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137672015G>A	(Likely) benign	1 lab	43bf990c9d
18:12374178 MISSING A>Alt too long to show for this DUP	18	12374178	12421518	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.12374179_12421518dup	VUS	1 lab	43c0723215
8:17812998 PCM1 C>T	8	17812998	17812998	C	T	PCM1	c.1308C>T	NM_006197.4	NP_006188.4:p.(Val436=)	NC_000008.10:g.17812998C>T	(Likely) benign	1 lab	43c1685eac
17:6358689 PITPNM3 C>T	17	6358689	6358689	C	T	PITPNM3	c.2894G>A	NM_031220.4	NP_112497.2:p.(Arg965His)	NC_000017.10:g.6358689C>T	VUS	1 lab	43c4d0d723
15:45402159 DUOX2 G>A	15	45402159	45402159	G	A	DUOX2	c.1060C>T	NM_014080.5	NP_054799.4:p.(Arg354Trp)	NC_000015.9:g.45402159G>A	VUS	1 lab	43c92b1bfd
5:109708244 MISSING Ref too long to show for this DEL>A	5	109708244	110301154	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.109708245_110301154del	VUS	1 lab	43cbe8b991
17:39914774 JUP TGTGAG>T	17	39914774	39914779	TGTGAG	T	JUP	c.1654-9_1654-5del	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914775_39914779del	(Likely) benign	1 lab	43d10e8faa
9:101909031 TGFBR1 C>T	9	101909031	101909031	C	T	TGFBR1	c.1255+140C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101909031C>T	VUS	1 lab	43d5bb924a
8:133899160 TG C>G	8	133899160	133899160	C	G	TG	c.1543C>G	NM_003235.5	NP_003226.4:p.(Gln515Glu)	NC_000008.10:g.133899160C>G	(Likely) benign	1 lab	43da1e53ee
6:112462021 LAMA4 G>A	6	112462021	112462021	G	A	LAMA4	c.2896C>T	NM_002290.5	NP_002281.3:p.(Leu966=)	NC_000006.11:g.112462021G>A	(Likely) benign	1 lab	43dbf2b075
22:50885788 SBF1 C>A	22	50885788	50885788	C	A	SBF1	c.5546G>T	NM_002972.4	NP_002963.2:p.(Gly1849Val)	NC_000022.10:g.50885788C>A	(Likely) benign	1 lab	43dc144955
1:154142913 TPM3 C>T	1	154142913	154142913	C	T	TPM3	c.738G>A	NM_152263.4	NP_689476.2:p.(Ser246=)	NC_000001.10:g.154142913C>T	(Likely) benign	1 lab	43def15ec0
7:98506464 TRRAP C>A	7	98506464	98506464	C	A	TRRAP	c.1229C>A	NM_001375524.1	NP_001362453.1:p.(Ser410Tyr)	NC_000007.13:g.98506464C>A	VUS	1 lab	43df4186b9
2:179400585 TTN GAA>G	2	179400585	179400600	GAA	G	TTN	c.100766-11_100766-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179400599_179400600del	(Likely) benign	1 lab	43e203c65c
2:44078819 ABCG8 C>T	2	44078819	44078819	C	T	ABCG8	c.419C>T	NM_022437.3	NP_071882.1:p.(Ser140Leu)	NC_000002.11:g.44078819C>T	VUS	1 lab	43e2c123ed
17:16761814 MISSING Ref too long to show for this DEL>T	17	16761814	20462723	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.16761815_20462723del	(Likely) pathogenic	1 lab	43e4535eae
3:65150399 MISSING A>Alt too long to show for this DUP	3	65150399	65439184	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.65150400_65439184dup	VUS	1 lab	43e4ff3021
4:106317502 PPA2 AC>A	4	106317502	106317503	AC	A	PPA2	c.784-12del	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106317503del	(Likely) benign	1 lab	43e79ecc2c
17:59886067 BRIP1 G>C	17	59886067	59886067	G	C	BRIP1	c.679C>G	NM_032043.3	NP_114432.2:p.(Gln227Glu)	NC_000017.10:g.59886067G>C	(Likely) benign	1 lab	43e7e9f645
16:48395609 SIAH1 T>C	16	48395609	48395609	T	C	SIAH1	c.731A>G	NM_003031.4	NP_003022.3:p.(His244Arg)	NC_000016.9:g.48395609T>C	VUS	1 lab	43ebfe30b7
12:50501535 GPD1 T>C	12	50501535	50501535	T	C	GPD1	c.798T>C	NM_005276.4	NP_005267.2:p.(Tyr266=)	NC_000012.11:g.50501535T>C	(Likely) benign	1 lab	43ee715b87
8:100791148 VPS13B C>T	8	100791148	100791148	C	T	VPS13B	c.7743C>T	NM_017890.5	NP_060360.3:p.(Ser2581=)	NC_000008.10:g.100791148C>T	(Likely) benign	1 lab	43f0d18753
8:27462481 CLU A>G	8	27462481	27462481	A	G	CLU	c.789T>C	NM_001831.4	NP_001822.3:p.(His263=)	NC_000008.10:g.27462481A>G	(Likely) benign	1 lab	43f1bdce9a
9:113168451 SVEP1 T>C	9	113168451	113168451	T	C	SVEP1	c.9429A>G	NM_153366.4	NP_699197.3:p.(Glu3143=)	NC_000009.11:g.113168451T>C	(Likely) benign	1 lab	43f2c60efb
20:271225 C20orf96 T>TTTTA	20	271225	271226	T	TTTTA	C20orf96	c.17+2_17+3insTAAA	NM_080571.2	NP_542138.1:p.?	NC_000020.10:g.271225_271226insTTTA	(Likely) benign	1 lab	43fac20ddd
12:1988986 CACNA2D4 C>T	12	1988986	1988986	C	T	CACNA2D4	c.1547G>A	NM_172364.5	NP_758952.4:p.(Ser516Asn)	NC_000012.11:g.1988986C>T	VUS	1 lab	43fe5c3ca1
8:42752308 HOOK3 C>T	8	42752308	42752308	C	T	HOOK3	c.34C>T	NM_032410.4	NP_115786.1:p.(Leu12=)	NC_000008.10:g.42752308C>T	(Likely) benign	1 lab	43ff9a5c73
18:12028013 MISSING C>Alt too long to show for this DUP	18	12028013	12340449	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.12028016_12340449dup	VUS	1 lab	44003590c9
2:179396214 TTN C>T	2	179396214	179396214	C	T	TTN	c.105128G>A	NM_001267550.2	NP_001254479.2:p.(Arg35043His)	NC_000002.11:g.179396214C>T	VUS	1 lab	44039a5155
1:116931507 ATP1A1 C>T	1	116931507	116931507	C	T	ATP1A1	c.637-17C>T	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116931507C>T	(Likely) benign	1 lab	4404b8d7e1
8:59410894 CYP7A1 A>T	8	59410894	59410894	A	T	CYP7A1	c.215T>A	NM_000780.4	NP_000771.2:p.(Met72Lys)	NC_000008.10:g.59410894A>T	VUS	1 lab	4405fcbf14
7:44147041 AEBP1 C>T	7	44147041	44147041	C	T	AEBP1	c.599C>T	NM_001129.5	NP_001120.3:p.(Ala200Val)	NC_000007.13:g.44147041C>T	(Likely) benign	1 lab	4406047021
3:57898929 SLMAP G>A	3	57898929	57898929	G	A	SLMAP	c.2014G>A	NM_001304420.3	NP_001291349.1:p.(Glu672Lys)	NC_000003.11:g.57898929G>A	VUS	1 lab	4406344654
18:28666708 DSC2 A>G	18	28666708	28666708	A	G	DSC2	c.776-3T>C	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28666708A>G	(Likely) benign	1 lab	4406af9f25
2:179406226 TTN G>A	2	179406226	179406226	G	A	TTN	c.97578C>T	NM_001267550.2	NP_001254479.2:p.(Asp32526=)	NC_000002.11:g.179406226G>A	(Likely) benign	1 lab	4406c71217
19:11227559 LDLR G>C	19	11227559	11227559	G	C	LDLR	c.1730G>C	NM_000527.5	NP_000518.1:p.(Trp577Ser)	NC_000019.9:g.11227559G>C	(Likely) pathogenic	1 lab	440a83ceb9
4:185340725 IRF2 G>GAAAA	4	185340725	185340745	G	GAAAA	IRF2	c.88-7_88-4dup	NM_002199.4	NP_002190.2:p.?	NC_000004.11:g.185340742_185340745dup	(Likely) benign	1 lab	440ad4f3f8
15:48741063 FBN1 T>C	15	48741063	48741063	T	C	FBN1	c.5573A>G	NM_000138.5	NP_000129.3:p.(Asn1858Ser)	NC_000015.9:g.48741063T>C	VUS	1 lab	440d578a01
2:179484764 TTN A>G	2	179484764	179484764	A	G	TTN	c.46380T>C	NM_001267550.2	NP_001254479.2:p.(Tyr15460=)	NC_000002.11:g.179484764A>G	(Likely) benign	1 lab	440fc38051
2:228649450 MISSING G>Alt too long to show for this DUP	2	228649450	228692181	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.228649452_228692181dup	VUS	1 lab	4410374a84
12:111356967 MYL2 C>A	12	111356967	111356967	C	A	MYL2	c.34G>T	NM_000432.4	NP_000423.2:p.(Gly12Cys)	NC_000012.11:g.111356967C>A	VUS	1 lab	4412324e43
19:11230641 LDLR A>G	19	11230641	11230641	A	G	LDLR	c.1846-127A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230641A>G	(Likely) benign	1 lab	44127de1ef
19:11233947 LDLR T>C	19	11233947	11233947	T	C	LDLR	c.2238T>C	NM_000527.5	NP_000518.1:p.(Val746=)	NC_000019.9:g.11233947T>C	(Likely) benign	1 lab	4412e37945
22:47885304 MISSING C>Alt too long to show for this DUP	22	47885304	48503077	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.47885306_48503077dup	VUS	1 lab	4413ff5712
3:135978029 PCCB C>T	3	135978029	135978029	C	T	PCCB	c.384C>T	NM_001178014.2	NP_001171485.1:p.(Gly128=)	NC_000003.11:g.135978029C>T	(Likely) benign	1 lab	441a9555f4
12:52099280 SCN8A TG>T	12	52099280	52099281	TG	T	SCN8A	c.1215del	NM_014191.4	NP_055006.1:p.(Ile406SerfsTer58)	NC_000012.11:g.52099281del	(Likely) pathogenic	1 lab	441f29e954
18:7036041 LAMA1 A>G	18	7036041	7036041	A	G	LAMA1	c.1784T>C	NM_005559.4	NP_005550.2:p.(Ile595Thr)	NC_000018.9:g.7036041A>G	(Likely) benign	1 lab	44200638d6
10:71160828 HK1 C>T	10	71160828	71160828	C	T	HK1	c.2655C>T	NM_033500.2	NP_277035.2:p.(Ser885=)	NC_000010.10:g.71160828C>T	(Likely) benign	1 lab	44221fb99d
1:21895001 ALPL C>A	1	21895001	21895001	C	A	ALPL	c.792+261C>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21895001C>A	(Likely) benign	1 lab	4424b56fb4
1:216465719 USH2A C>CA	1	216465719	216465725	C	CA	USH2A	c.1645-8dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216465725dup	(Likely) benign	1 lab	44406e06a5
15:94729566 MISSING Ref too long to show for this DEL>A	15	94729566	94819943	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.94729568_94819943del	VUS	1 lab	4428ed2ba9
17:56787351 RAD51C TG>T	17	56787351	56787352	TG	T	RAD51C	c.837+1del	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56787352del	(Likely) pathogenic	1 lab	442b34cdb6
9:107568703 ABCA1 G>A	9	107568703	107568703	G	A	ABCA1	c.4283C>T	NM_005502.4	NP_005493.2:p.(Pro1428Leu)	NC_000009.11:g.107568703G>A	(Likely) benign	1 lab	442b95331c
22:31323998 MORC2 G>A	22	31323998	31323998	G	A	MORC2	c.2844+8C>T	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31323998G>A	(Likely) benign	1 lab	442be037e2
6:150710622 IYD TTCA>T	6	150710622	150710626	TTCA	T	IYD	c.315_317del	NM_001164694.2	NP_001158166.1:p.(Phe105_Ile106delinsLeu)	NC_000006.11:g.150710624_150710626del	VUS	1 lab	442bfac8d7
19:11224491 LDLR A>G	19	11224491	11224491	A	G	LDLR	c.1586+53A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224491A>G	(Likely) benign	1 lab	442c5a2a39
7:26235453 HNRNPA2B1 A>T	7	26235453	26235453	A	T	HNRNPA2B1	c.757+14T>A	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26235453A>T	(Likely) benign	1 lab	442d41ab07
8:102731659 MISSING G>Alt too long to show for this DUP	8	102731659	103205696	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.102731661_103205696dup	VUS	1 lab	464c3e4345
19:11202306 LDLR G>T	19	11202306	11202306	G	T	LDLR	c.67+2015G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202306G>T	(Likely) benign	1 lab	44330ab944
9:107554745 ABCA1 A>T	9	107554745	107554745	A	T	ABCA1	c.5757+322T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554745A>T	(Likely) benign	1 lab	443979c839
19:17777508 UNC13A C>G	19	17777508	17777508	C	G	UNC13A	c.474G>C	NM_001080421.3	NP_001073890.2:p.(Ser158=)	NC_000019.9:g.17777508C>G	(Likely) benign	1 lab	44399fdf18
17:13857413 MISSING Ref too long to show for this DEL>C	17	13857413	13964615	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.13857414_13964615del	(Likely) pathogenic	1 lab	443c3754db
2:44049973 ABCG5 C>CGCTGAAGGGGAGGACGTGCAGT	2	44049973	44049997	C	CGCTGAAGGGGAGGACGTGCAGT	ABCG5	c.1404_1425dup	NM_022436.3	NP_071881.1:p.(Val476ThrfsTer27)	NC_000002.11:g.44049976_44049997dup	(Likely) pathogenic	1 lab	443c8208ff
6:56469602 DST A>G	6	56469602	56469602	A	G	DST	c.9824T>C	NM_001374736.1	NP_001361665.1:p.(Leu3275Ser)	NC_000006.11:g.56469602A>G	(Likely) benign	1 lab	443ca64a93
11:68700757 IGHMBP2 C>T	11	68700757	68700757	C	T	IGHMBP2	c.1236-10C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68700757C>T	(Likely) benign	1 lab	443e870e7d
8:10467618 RP1L1 C>T	8	10467618	10467618	C	T	RP1L1	c.3990G>A	NM_178857.6	NP_849188.4:p.(Gly1330=)	NC_000008.10:g.10467618C>T	(Likely) benign	1 lab	4442120f00
2:44099139 ABCG8 G>A	2	44099139	44099139	G	A	ABCG8	c.989G>A	NM_022437.3	NP_071882.1:p.(Arg330His)	NC_000002.11:g.44099139G>A	VUS	1 lab	44449349e1
1:45307694 PTCH2 C>T	1	45307694	45307694	C	T	PTCH2	c.90G>A	NM_003738.5	NP_003729.3:p.(Leu30=)	NC_000001.10:g.45307694C>T	(Likely) benign	1 lab	4444a9d2fc
2:63605542 WDPCP Ref too long to show for this DEL>C	2	63605542	63771231	Ref too long to show for this DEL	C	WDPCP	c.75+44101_1726del	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63605544_63771231del	VUS	1 lab	44459137ad
7:103138517 SLC26A5-AS1 C>G	7	103138517	103138517	C	G	SLC26A5-AS1	n.1366-6334C>G	NR_110141.1		NC_000007.13:g.103138517C>G	(Likely) benign	1 lab	44478949fa
13:32893439 BRCA2 TA>T	13	32893439	32893440	TA	T	BRCA2	c.294del	NM_000059.4	NP_000050.3:p.(Asp99IlefsTer5)	NC_000013.10:g.32893440del	(Likely) pathogenic	1 lab	444a852900
7:73480258 ELN A>G	7	73480258	73480258	A	G	ELN	c.2033-16A>G	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73480258A>G	(Likely) benign	1 lab	444b04e996
16:56997055 CETP G>A	16	56997055	56997055	G	A	CETP	c.233+19G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997055G>A	(Likely) benign	1 lab	444b697678
8:19816371 LPL T>C	8	19816371	19816371	T	C	LPL	c.1019-400T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816371T>C	(Likely) benign	1 lab	444dabe1c4
13:96413062 DNAJC3 T>C	13	96413062	96413062	T	C	DNAJC3	c.848+10T>C	NM_006260.5	NP_006251.1:p.?	NC_000013.10:g.96413062T>C	(Likely) benign	1 lab	4452001422
19:10593867 MISSING Ref too long to show for this DEL>C	19	10593867	11439799	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.10593868_11439799del	(Likely) pathogenic	1 lab	445274d4fc
2:21234141 APOB G>A	2	21234141	21234141	G	A	APOB	c.5599C>T	NM_000384.3	NP_000375.3:p.(Arg1867Trp)	NC_000002.11:g.21234141G>A	VUS	1 lab	445368ccf6
7:154593047 DPP6 C>A	7	154593047	154593047	C	A	DPP6	c.1300-18C>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154593047C>A	(Likely) benign	1 lab	4457ad7cbe
9:3828313 GLIS3 G>C	9	3828313	3828313	G	C	GLIS3	c.2752C>G	NM_001042413.2	NP_001035878.1:p.(Arg918Gly)	NC_000009.11:g.3828313G>C	VUS	1 lab	44591838ed
19:42398692 ARHGEF1 G>A	19	42398692	42398692	G	A	ARHGEF1	c.887-7G>A	NM_199002.2	NP_945353.1:p.?	NC_000019.9:g.42398692G>A	(Likely) benign	1 lab	445bf34529
19:17769047 UNC13A A>G	19	17769047	17769047	A	G	UNC13A	c.591T>C	NM_001080421.3	NP_001073890.2:p.(Arg197=)	NC_000019.9:g.17769047A>G	(Likely) benign	1 lab	445c5900fa
15:66782908 MAP2K1 C>T	15	66782908	66782908	C	T	MAP2K1	c.1137C>T	NM_002755.4	NP_002746.1:p.(Ile379=)	NC_000015.9:g.66782908C>T	(Likely) benign	1 lab	445c646d9b
13:32890605 BRCA2 T>C	13	32890605	32890605	T	C	BRCA2	c.8T>C	NM_000059.4	NP_000050.3:p.(Ile3Thr)	NC_000013.10:g.32890605T>C	(Likely) benign	1 lab	445cd32735
2:179611866 TTN G>T	2	179611866	179611866	G	T	TTN	c.15261C>A	NM_133379.5	NP_596870.2:p.(Pro5087=)	NC_000002.11:g.179611866G>T	(Likely) benign	1 lab	445d7efe2b
19:11213464 LDLR T>C	19	11213464	11213464	T	C	LDLR	c.313+2T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213464T>C	(Likely) pathogenic	1 lab	445f0d38e6
2:27460690 CAD G>A	2	27460690	27460690	G	A	CAD	c.4668G>A	NM_004341.5	NP_004332.2:p.(Lys1556=)	NC_000002.11:g.27460690G>A	(Likely) benign	1 lab	445f5f197e
17:56780684 RAD51C C>T	17	56780684	56780684	C	T	RAD51C	c.699C>T	NM_058216.3	NP_478123.1:p.(His233=)	NC_000017.10:g.56780684C>T	(Likely) benign	1 lab	445f92a598
Y:271488 MISSING G>Alt too long to show for this DUP	Y	271488	797434	G	Alt too long to show for this DUP	MISSING				NC_000024.9:g.271491_797434dup	VUS	1 lab	44613a1bce
2:44066207 ABCG8 G>A	2	44066207	44066207	G	A	ABCG8	c.15G>A	NM_022437.3	NP_071882.1:p.(Ala5=)	NC_000002.11:g.44066207G>A	(Likely) benign	1 lab	4461a3c730
9:136221752 SURF1 G>C	9	136221752	136221752	G	C	SURF1	c.167C>G	NM_003172.4	NP_003163.1:p.(Ala56Gly)	NC_000009.11:g.136221752G>C	(Likely) benign	1 lab	44642ee218
14:23901065 MYH7 C>T	14	23901065	23901065	C	T	MYH7	c.544G>A	NM_000257.4	NP_000248.2:p.(Ala182Thr)	NC_000014.8:g.23901065C>T	VUS	1 lab	4464500916
16:31195224 FUS G>A	16	31195224	31195224	G	A	FUS	c.236G>A	NM_004960.4	NP_004951.1:p.(Gly79Asp)	NC_000016.9:g.31195224G>A	(Likely) benign	1 lab	4465b4537f
2:21255981 APOB C>T	2	21255981	21255981	C	T	APOB	c.1124+190G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255981C>T	(Likely) benign	1 lab	446cb59aae
19:11230690 LDLR C>G	19	11230690	11230690	C	G	LDLR	c.1846-78C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230690C>G	(Likely) benign	1 lab	446fe11e2d
1:180772708 XPR1 T>C	1	180772708	180772708	T	C	XPR1	c.408T>C	NM_004736.4	NP_004727.2:p.(Ser136=)	NC_000001.10:g.180772708T>C	(Likely) benign	1 lab	4470a03917
6:7559190 DSP C>T	6	7559190	7559190	C	T	DSP	c.423-269C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559190C>T	(Likely) benign	1 lab	4471dd9bdb
2:218659464 MISSING G>Alt too long to show for this DUP	2	218659464	218775402	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.218659465_218775402dup	VUS	1 lab	44736e819c
5:86564535 RASA1 A>T	5	86564535	86564535	A	T	RASA1	c.267A>T	NM_002890.3	NP_002881.1:p.(Gly89=)	NC_000005.9:g.86564535A>T	(Likely) benign	1 lab	4474252bbf
5:149437085 CSF1R C>A	5	149437085	149437085	C	A	CSF1R	c.2203G>T	NM_005211.4	NP_005202.2:p.(Asp735Tyr)	NC_000005.9:g.149437085C>A	(Likely) benign	1 lab	44774ecda7
6:16129580 MYLIP C>A	6	16129580	16129580	C	A	MYLIP	c.27C>A	NM_013262.4	NP_037394.2:p.(Asp9Glu)	NC_000006.11:g.16129580C>A	(Likely) benign	1 lab	4477fca6d9
X:8434256 VCX3B A>G	X	8434256	8434256	A	G	VCX3B	c.573A>G	NM_001001888.4	NP_001001888.3:p.(Glu191=)	NC_000023.10:g.8434256A>G	(Likely) benign	1 lab	447805bbed
10:103392828 FBXW4 Ref too long to show for this DEL>G	10	103392828	103401273	Ref too long to show for this DEL	G	FBXW4	c.1236-16706_1236-8262del	NM_022039.4	NP_071322.2:p.?	NC_000010.10:g.103392829_103401273del	VUS	1 lab	447aa07383
16:88802573 PIEZO1 G>A	16	88802573	88802573	G	A	PIEZO1	c.1540C>T	NM_001142864.4	NP_001136336.2:p.(Leu514=)	NC_000016.9:g.88802573G>A	(Likely) benign	1 lab	447ae7e47e
7:94052629 COL1A2 G>T	7	94052629	94052629	G	T	COL1A2	c.2565+199G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94052629G>T	(Likely) benign	1 lab	447bc76ab7
16:70989277 HYDIN C>T	16	70989277	70989277	C	T	HYDIN	c.6316+1G>A	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70989277C>T	VUS	1 lab	4482fcb9c5
14:102516060 DYNC1H1 G>A	14	102516060	102516060	G	A	DYNC1H1	c.13525G>A	NM_001376.5	NP_001367.2:p.(Val4509Met)	NC_000014.8:g.102516060G>A	VUS	1 lab	44883ea129
X:104514380 IL1RAPL2 C>Alt too long to show for this DUP	X	104514380	104561156	C	Alt too long to show for this DUP	IL1RAPL2	c.697+2157_697+48932dup	NM_017416.2	NP_059112.1:p.?	NC_000023.10:g.104514381_104561156dup	VUS	1 lab	44893f3a09
11:61730555 BEST1 G>A	11	61730555	61730555	G	A	BEST1	c.1749G>A	NM_001139443.2	NP_001132915.1:p.(Ser583=)	NC_000011.9:g.61730555G>A	(Likely) benign	1 lab	4489705a4f
9:32544034 TOPORS T>C	9	32544034	32544034	T	C	TOPORS	c.489A>G	NM_005802.5	NP_005793.2:p.(Leu163=)	NC_000009.11:g.32544034T>C	(Likely) benign	1 lab	448a37fcdd
1:63066837 ANGPTL3 T>C	1	63066837	63066837	T	C	ANGPTL3	c.691T>C	NM_014495.4	NP_055310.1:p.(Leu231=)	NC_000001.10:g.63066837T>C	(Likely) benign	1 lab	448b458402
8:19823192 LPL T>C	8	19823192	19823192	T	C	LPL	c.*371T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19823192T>C	(Likely) benign	1 lab	448fea23d4
16:29580978 MISSING G>Alt too long to show for this DUP	16	29580978	30320002	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29580979_30320002dup	(Likely) pathogenic	1 lab	44933980ac
13:60313233 MISSING Ref too long to show for this DEL>A	13	60313233	60818288	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.60313234_60818288del	VUS	1 lab	4496258a74
2:21225885 APOB T>A	2	21225885	21225885	T	A	APOB	c.12409A>T	NM_000384.3	NP_000375.3:p.(Thr4137Ser)	NC_000002.11:g.21225885T>A	VUS	1 lab	4499f5a534
19:11231056 LDLR G>A	19	11231056	11231056	G	A	LDLR	c.1998G>A	NM_000527.5	NP_000518.1:p.(Trp666Ter)	NC_000019.9:g.11231056G>A	(Likely) pathogenic	1 lab	449a8723b4
15:31073731 MISSING Ref too long to show for this DEL>T	15	31073731	32444044	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.31073735_32444044del	(Likely) pathogenic	1 lab	449b98e89b
14:94926839 MISSING Ref too long to show for this DEL>A	14	94926839	94938498	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.94926840_94938498del	VUS	1 lab	449bcac61c
4:121719584 PRDM5 T>TA	4	121719584	121719591	T	TA	PRDM5	c.1031-6dup	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121719591dup	(Likely) benign	1 lab	449c570365
7:72718122 MISSING Ref too long to show for this DEL>G	7	72718122	74142190	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72718123_74142190del	(Likely) pathogenic	1 lab	449d00102d
6:16144080 MYLIP G>A	6	16144080	16144080	G	A	MYLIP	c.813G>A	NM_013262.4	NP_037394.2:p.(Thr271=)	NC_000006.11:g.16144080G>A	(Likely) benign	1 lab	449e66d49a
1:63069922 ANGPTL3 A>G	1	63069922	63069922	A	G	ANGPTL3	c.1198+16A>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63069922A>G	(Likely) benign	1 lab	44a1bfd839
2:44102265 ABCG8 G>T	2	44102265	44102265	G	T	ABCG8	c.1489-20G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102265G>T	VUS	1 lab	44a4380080
18:19761412 GATA6 A>G	18	19761412	19761412	A	G	GATA6	c.1303-2A>G	NM_005257.6	NP_005248.2:p.?	NC_000018.9:g.19761412A>G	(Likely) pathogenic	1 lab	44a5c560d1
19:48342906 CRX C>CTACG	19	48342906	48342910	C	CTACG	CRX	c.583_586dup	NM_000554.6	NP_000545.1:p.(Ala196ValfsTer41)	NC_000019.9:g.48342907_48342910dup	(Likely) pathogenic	1 lab	44a67a97b8
11:102249284 MISSING C>Alt too long to show for this DUP	11	102249284	102481046	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.102249285_102481046dup	VUS	1 lab	44a8a0b2a7
9:107645396 ABCA1 G>A	9	107645396	107645396	G	A	ABCA1	c.345C>T	NM_005502.4	NP_005493.2:p.(Tyr115=)	NC_000009.11:g.107645396G>A	(Likely) benign	1 lab	44aafa3466
14:23868100 MYH6 G>A	14	23868100	23868100	G	A	MYH6	c.1728C>T	NM_002471.4	NP_002462.2:p.(Ala576=)	NC_000014.8:g.23868100G>A	(Likely) benign	1 lab	44ab3ba9bf
2:179434626 TTN G>A	2	179434626	179434626	G	A	TTN	c.76233C>T	NM_001267550.2	NP_001254479.2:p.(Asn25411=)	NC_000002.11:g.179434626G>A	(Likely) benign	1 lab	44ab72b175
15:28326942 OCA2 C>T	15	28326942	28326942	C	T	OCA2	c.79G>A	NM_000275.3	NP_000266.2:p.(Gly27Arg)	NC_000015.9:g.28326942C>T	(Likely) benign	1 lab	44ae606b8a
6:56507601 DST CGAT>C	6	56507601	56507605	CGAT	C	DST	c.-18_-16del	NM_015548.5	NP_056363.2:p.?	NC_000006.11:g.56507603_56507605del	(Likely) benign	1 lab	44b264ea0c
X:23164220 MISSING Ref too long to show for this DEL>T	X	23164220	23373278	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.23164222_23373278del	(Likely) pathogenic	1 lab	44b328f446
7:122794165 MISSING Ref too long to show for this DEL>A	7	122794165	122847696	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.122794171_122847696del	VUS	1 lab	44b4686596
4:106377880 PPA2 A>G	4	106377880	106377880	A	G	PPA2	c.180T>C	NM_176869.3	NP_789845.1:p.(Ile60=)	NC_000004.11:g.106377880A>G	(Likely) benign	1 lab	44b5038702
1:40771808 COL9A2 G>A	1	40771808	40771808	G	A	COL9A2	c.1053+7C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40771808G>A	(Likely) benign	1 lab	44b5901f4a
14:21679718 HNRNPC C>T	14	21679718	21679718	C	T	HNRNPC	c.684G>A	NM_031314.3	NP_112604.2:p.(Met228Ile)	NC_000014.8:g.21679718C>T	(Likely) benign	1 lab	44b627ab5b
X:46713216 RP2 CATT>C	X	46713216	46713219	CATT	C	RP2	c.409_411del	NM_006915.3	NP_008846.2:p.(Ile137del)	NC_000023.10:g.46713217_46713219del	(Likely) pathogenic	1 lab	44b77d89bf
7:142573644 TRPV6 A>T	7	142573644	142573644	A	T	TRPV6	c.896T>A	NM_018646.6	NP_061116.5:p.(Leu299Gln)	NC_000007.13:g.142573644A>T	(Likely) benign	1 lab	44b87eeadd
16:57974206 CNGB1 C>T	16	57974206	57974206	C	T	CNGB1	c.1141G>A	NM_001297.5	NP_001288.3:p.(Val381Met)	NC_000016.9:g.57974206C>T	VUS	1 lab	44b8b659b1
22:39639934 PDGFB C>A	22	39639934	39639934	C	A	PDGFB	c.35G>T	NM_002608.4	NP_002599.1:p.(Cys12Phe)	NC_000022.10:g.39639934C>A	(Likely) benign	1 lab	44bb8909bb
17:59876565 BRIP1 TTC>T	17	59876565	59876568	TTC	T	BRIP1	c.1234_1235del	NM_032043.3	NP_114432.2:p.(Glu412SerfsTer9)	NC_000017.10:g.59876567_59876568del	(Likely) pathogenic	1 lab	44c2da0117
18:19444530 MIB1 T>C	18	19444530	19444530	T	C	MIB1	c.2924T>C	NM_020774.4	NP_065825.1:p.(Phe975Ser)	NC_000018.9:g.19444530T>C	VUS	1 lab	44c80661f1
17:79203057 TEPSIN T>G	17	79203057	79203057	T	G	TEPSIN	c.1249A>C	NM_144679.3	NP_653280.1:p.(Thr417Pro)	NC_000017.10:g.79203057T>G	(Likely) benign	1 lab	44c855dd82
22:50905757 SBF1 C>T	22	50905757	50905757	C	T	SBF1	c.549+10G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50905757C>T	(Likely) benign	1 lab	44c9e9d9af
6:32012279 TNXB C>T	6	32012279	32012279	C	T	TNXB	c.11136G>A	NM_019105.8	NP_061978.6:p.(Thr3712=)	NC_000006.11:g.32012279C>T	(Likely) benign	1 lab	44caa9049b
4:22389311 ADGRA3 T>C	4	22389311	22389311	T	C	ADGRA3	c.*17A>G	NM_145290.4	NP_660333.2:p.?	NC_000004.11:g.22389311T>C	(Likely) benign	1 lab	44cab6f04d
8:145738409 RECQL4 C>CGGTGCA	8	145738409	145738410	C	CGGTGCA	RECQL4	c.2575_2576insTGCACC	NM_004260.4	NP_004251.4:p.(Thr858_Arg859insMetHis)	NC_000008.10:g.145738409_145738410insGGTGCA	(Likely) benign	1 lab	44cacd7cb2
6:18139228 TPMT C>T	6	18139228	18139228	C	T	TPMT	c.460G>A	NM_000367.5	NP_000358.1:p.(Ala154Thr)	NC_000006.11:g.18139228C>T	(Likely) pathogenic	1 lab	44cb3b925c
16:8906904 PMM2 C>T	16	8906904	8906904	C	T	PMM2	c.580C>T	NM_000303.3	NP_000294.1:p.(Arg194Ter)	NC_000016.9:g.8906904C>T	(Likely) pathogenic	1 lab	44cbcb0b54
5:178413476 GRM6 G>A	5	178413476	178413476	G	A	GRM6	c.1779C>T	NM_000843.4	NP_000834.2:p.(Ala593=)	NC_000005.9:g.178413476G>A	(Likely) benign	1 lab	44cc2482b2
9:27548388 C9orf72 C>T	9	27548388	27548388	C	T	C9orf72	c.1292G>A	NM_001256054.3	NP_001242983.1:p.(Arg431Gln)	NC_000009.11:g.27548388C>T	VUS	1 lab	44cc8b6e54
9:107576732 ABCA1 T>G	9	107576732	107576732	T	G	ABCA1	c.3763A>C	NM_005502.4	NP_005493.2:p.(Ser1255Arg)	NC_000009.11:g.107576732T>G	VUS	1 lab	44db91ef7a
5:130515822 LYRM7 GACA>G	5	130515822	130515829	GACA	G	LYRM7	c.58_60del	NM_181705.4	NP_859056.2:p.(Gln20del)	NC_000005.9:g.130515827_130515829del	(Likely) pathogenic	1 lab	44dc78d7a1
16:67976423 LCAT C>T	16	67976423	67976423	C	T	LCAT	c.591G>A	NM_000229.2	NP_000220.1:p.(Lys197=)	NC_000016.9:g.67976423C>T	(Likely) benign	1 lab	44dcbffe2a
2:179413110 TTN-AS1 G>A	2	179413110	179413110	G	A	TTN-AS1	n.2043+6022G>A	NR_038272.1		NC_000002.11:g.179413110G>A	(Likely) benign	1 lab	44e20ffa17
1:150537458 MISSING Ref too long to show for this DEL>A	1	150537458	150561532	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.150537459_150561532del	VUS	1 lab	44e274705a
12:21353605 SLCO1B1 G>A	12	21353605	21353605	G	A	SLCO1B1	c.1134G>A	NM_006446.5	NP_006437.3:p.(Leu378=)	NC_000012.11:g.21353605G>A	(Likely) benign	1 lab	44e4af9c41
6:7584714 DSP G>A	6	7584714	7584714	G	A	DSP	c.7219G>A	NM_004415.4	NP_004406.2:p.(Asp2407Asn)	NC_000006.11:g.7584714G>A	VUS	1 lab	44e57e97ca
1:196648824 CFH G>T	1	196648824	196648824	G	T	CFH	c.691G>T	NM_000186.4	NP_000177.2:p.(Glu231Ter)	NC_000001.10:g.196648824G>T	(Likely) pathogenic	1 lab	44e64bd16e
16:31692157 MISSING C>Alt too long to show for this DUP	16	31692157	31876410	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.31692160_31876410dup	VUS	1 lab	44e7f7c484
3:100962917 IMPG2 G>A	3	100962917	100962917	G	A	IMPG2	c.2258C>T	NM_016247.4	NP_057331.2:p.(Ser753Leu)	NC_000003.11:g.100962917G>A	VUS	1 lab	44e8d0e338
2:85768812 MAT2A A>G	2	85768812	85768812	A	G	MAT2A	c.349A>G	NM_005911.6	NP_005902.1:p.(Ile117Val)	NC_000002.11:g.85768812A>G	VUS	1 lab	44e913fcff
8:1808338 ARHGEF10 C>G	8	1808338	1808338	C	G	ARHGEF10	c.541C>G	NM_001308153.2	NP_001295082.1:p.(Leu181Val)	NC_000008.10:g.1808338C>G	VUS	1 lab	44eadbf282
2:44065894 ABCG5 G>A	2	44065894	44065894	G	A	ABCG5	c.-76C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44065894G>A	VUS	1 lab	44ee7b84fb
X:130409683 IGSF1 G>GC	X	130409683	130409687	G	GC	IGSF1	c.2967dup	NM_001170961.2	NP_001164432.1:p.(Gln990AlafsTer35)	NC_000023.10:g.130409687dup	(Likely) pathogenic	1 lab	44efc1a671
6:66205288 EYS T>C	6	66205288	66205288	T	C	EYS	c.16A>G	NM_001292009.2	NP_001278938.1:p.(Ile6Val)	NC_000006.11:g.66205288T>C	(Likely) benign	1 lab	44efc396be
8:145741870 RECQL4 A>G	8	145741870	145741870	A	G	RECQL4	c.633T>C	NM_004260.4	NP_004251.4:p.(Asp211=)	NC_000008.10:g.145741870A>G	(Likely) benign	1 lab	44efc63f0f
18:28650757 DSC2 G>T	18	28650757	28650757	G	T	DSC2	c.2185C>A	NM_004949.5	NP_004940.1:p.(Pro729Thr)	NC_000018.9:g.28650757G>T	VUS	1 lab	44f37ec40c
8:134024155 TG A>G	8	134024155	134024155	A	G	TG	c.6272A>G	NM_003235.5	NP_003226.4:p.(Asp2091Gly)	NC_000008.10:g.134024155A>G	(Likely) benign	1 lab	44f6e38bcf
4:110791678 LRIT3 CTG>C	4	110791678	110791683	CTG	C	LRIT3	c.1777_1778del	NM_198506.5	NP_940908.3:p.(Val593CysfsTer19)	NC_000004.11:g.110791682_110791683del	(Likely) pathogenic	1 lab	44f93d7837
15:52667537 MYO5A G>A	15	52667537	52667537	G	A	MYO5A	c.2541C>T	NM_000259.3	NP_000250.3:p.(Tyr847=)	NC_000015.9:g.52667537G>A	(Likely) benign	1 lab	44f99329ed
1:156105707 LMNA G>A	1	156105707	156105707	G	A	LMNA	c.952G>A	NM_170707.4	NP_733821.1:p.(Ala318Thr)	NC_000001.10:g.156105707G>A	VUS	1 lab	44f9aa2b73
2:24916104 NCOA1 C>T	2	24916104	24916104	C	T	NCOA1	c.713-17C>T	NM_001362950.1	NP_001349879.1:p.?	NC_000002.11:g.24916104C>T	(Likely) benign	1 lab	44fa93cbe4
11:116662344 APOA5 C>A	11	116662344	116662344	C	A	APOA5	c.119G>T	NM_052968.5	NP_443200.2:p.(Arg40Met)	NC_000011.9:g.116662344C>A	VUS	1 lab	44fcfd8998
1:179036069 MISSING Ref too long to show for this DEL>C	1	179036069	179046625	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.179036073_179046625del	(Likely) pathogenic	1 lab	4501d9669d
X:85156095 CHM TGCACACGTGA>T	X	85156095	85156110	TGCACACGTGA	T	CHM	c.889_898del	NM_001362517.1	NP_001349446.1:p.(Ser297AsnfsTer10)	NC_000023.10:g.85156101_85156110del	(Likely) pathogenic	1 lab	4507a97629
9:131016985 DNM1 G>C	9	131016985	131016985	G	C	DNM1	c.2587G>C	NM_001288739.2	NP_001275668.1:p.(Asp863His)	NC_000009.11:g.131016985G>C	VUS	1 lab	450937dfb0
9:100777710 ANP32B T>A	9	100777710	100777710	T	A	ANP32B	c.753T>A	NM_006401.3	NP_006392.1:p.(Asp251Glu)	NC_000009.11:g.100777710T>A	(Likely) benign	1 lab	450c821f86
12:125292308 SCARB1 G>A	12	125292308	125292308	G	A	SCARB1	c.1008C>T	NM_001367981.1	NP_001354910.1:p.(Phe336=)	NC_000012.11:g.125292308G>A	VUS	1 lab	450cb741f2
2:233389082 PRSS56 A>T	2	233389082	233389082	A	T	PRSS56	c.1417+3A>T	NM_001369848.1	NP_001356777.1:p.?	NC_000002.11:g.233389082A>T	VUS	1 lab	451b7507a5
19:41116455 LTBP4 C>G	19	41116455	41116455	C	G	LTBP4	c.1903C>G	NM_001042544.1	NP_001036009.1:p.(Arg635Gly)	NC_000019.9:g.41116455C>G	(Likely) benign	1 lab	451c3cb64c
4:1497033 MISSING Ref too long to show for this DEL>A	4	1497033	1764877	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.1497034_1764877del	VUS	1 lab	4520ed131c
3:123167287 ADCY5 C>A	3	123167287	123167287	C	A	ADCY5	c.106G>T	NM_183357.3	NP_899200.1:p.(Asp36Tyr)	NC_000003.11:g.123167287C>A	VUS	1 lab	4522db107b
20:57478643 GNAS A>G	20	57478643	57478643	A	G	GNAS	c.*173+3A>G	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57478643A>G	VUS	1 lab	4523453357
2:42450499 EML4 Ref too long to show for this DEL>T	2	42450499	42527392	Ref too long to show for this DEL	T	EML4	c.26-22145_1490-989del	NM_019063.5	NP_061936.3:p.?	NC_000002.11:g.42450500_42527392del	VUS	1 lab	4524a4501c
9:137677868 COL5A1 G>C	9	137677868	137677868	G	C	COL5A1	c.2620G>C	NM_000093.5	NP_000084.3:p.(Gly874Arg)	NC_000009.11:g.137677868G>C	(Likely) pathogenic	1 lab	4530716544
3:38627292 SCN5A G>A	3	38627292	38627292	G	A	SCN5A	c.2677C>T	NM_198056.3	NP_932173.1:p.(Arg893Cys)	NC_000003.11:g.38627292G>A	(Likely) pathogenic	1 lab	4530a46e06
16:2814656 SRRM2 CAA>C	16	2814656	2814658	CAA	C	SRRM2	c.4128_4129del	NM_016333.4	NP_057417.3:p.(Arg1377IlefsTer8)	NC_000016.9:g.2814657_2814658del	(Likely) pathogenic	1 lab	453180a569
15:73660438 HCN4 G>A	15	73660438	73660438	G	A	HCN4	c.174C>T	NM_005477.3	NP_005468.1:p.(Pro58=)	NC_000015.9:g.73660438G>A	(Likely) benign	1 lab	4531ed798f
1:6537588 PLEKHG5 C>T	1	6537588	6537588	C	T	PLEKHG5	c.43+1G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6537588C>T	(Likely) pathogenic	1 lab	4532c7d092
6:129691121 LAMA2 G>T	6	129691121	129691121	G	T	LAMA2	c.4945G>T	NM_000426.4	NP_000417.3:p.(Glu1649Ter)	NC_000006.11:g.129691121G>T	(Likely) pathogenic	1 lab	4534af5aa0
4:100543836 MTTP A>T	4	100543836	100543836	A	T	MTTP	c.2516A>T	NM_000253.4	NP_000244.2:p.(Gln839Leu)	NC_000004.11:g.100543836A>T	(Likely) benign	1 lab	453a6bb9e1
7:114619598 MDFIC C>A	7	114619598	114619598	C	A	MDFIC	c.255C>A	NM_001166345.1	NP_001159817.1:p.(Ala85=)	NC_000007.13:g.114619598C>A	(Likely) benign	1 lab	453b0acf98
12:66765616 GRIP1 C>T	12	66765616	66765616	C	T	GRIP1	c.2714G>A	NM_021150.4	NP_066973.2:p.(Arg905His)	NC_000012.11:g.66765616C>T	VUS	1 lab	453b3e0145
19:45411793 APOE G>A	19	45411793	45411793	G	A	APOE	c.318G>A	NM_001302688.2	NP_001289617.1:p.(Ala106=)	NC_000019.9:g.45411793G>A	(Likely) benign	1 lab	453bf3e16a
15:85410529 ALPK3 C>G	15	85410529	85410529	C	G	ALPK3	c.4724-19C>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410529C>G	(Likely) benign	1 lab	453fdfc38d
1:63063480 ANGPTL3 T>C	1	63063480	63063480	T	C	ANGPTL3	c.243T>C	NM_014495.4	NP_055310.1:p.(Ser81=)	NC_000001.10:g.63063480T>C	(Likely) benign	1 lab	454222f4e9
8:71556382 MISSING Ref too long to show for this DEL>T	8	71556382	71647310	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.71556383_71647310del	VUS	1 lab	45475cc519
2:179510703 TTN G>T	2	179510703	179510703	G	T	TTN	c.40352C>A	NM_001267550.2	NP_001254479.2:p.(Pro13451His)	NC_000002.11:g.179510703G>T	VUS	1 lab	45482499d8
2:152461263 NEB A>G	2	152461263	152461263	A	G	NEB	c.12870T>C	NM_001271208.2	NP_001258137.2:p.(Tyr4290=)	NC_000002.11:g.152461263A>G	(Likely) benign	1 lab	454b050793
6:84796965 MRAP2 C>T	6	84796965	84796965	C	T	MRAP2	c.27C>T	NM_001346543.2	NP_001333472.1:p.(Gly9=)	NC_000006.11:g.84796965C>T	(Likely) benign	1 lab	454ccfbb9a
4:79308610 FRAS1 C>T	4	79308610	79308610	C	T	FRAS1	c.3730C>T	NM_025074.7	NP_079350.5:p.(Arg1244Ter)	NC_000004.11:g.79308610C>T	(Likely) pathogenic	1 lab	454dd7495e
7:94038755 COL1A2 C>A	7	94038755	94038755	C	A	COL1A2	c.891+23C>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038755C>A	(Likely) benign	1 lab	4552e87596
7:55214405 EGFR G>A	7	55214405	55214405	G	A	EGFR	c.531G>A	NM_005228.5	NP_005219.2:p.(Ser177=)	NC_000007.13:g.55214405G>A	(Likely) benign	1 lab	455717813c
10:69881278 MYPN G>C	10	69881278	69881278	G	C	MYPN	c.83G>C	NM_032578.4	NP_115967.2:p.(Gly28Ala)	NC_000010.10:g.69881278G>C	VUS	1 lab	4557ca17f5
19:1221242 STK11 C>T	19	1221242	1221242	C	T	STK11	c.765C>T	NM_000455.5	NP_000446.1:p.(Phe255=)	NC_000019.9:g.1221242C>T	(Likely) benign	1 lab	455d5187ea
12:2229481 CACNA1C C>T	12	2229481	2229481	C	T	CACNA1C	c.372-10C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2229481C>T	(Likely) benign	1 lab	455dbc42c8
1:27001053 MISSING A>Alt too long to show for this DUP	1	27001053	27151422	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.27001055_27151422dup	VUS	1 lab	4563aadfd5
21:43161252 RIPK4 G>A	21	43161252	43161252	G	A	RIPK4	c.2101C>T	NM_020639.3	NP_065690.2:p.(Pro701Ser)	NC_000021.8:g.43161252G>A	(Likely) benign	1 lab	45654d51d3
19:11240333 LDLR ACAG>A	19	11240333	11240337	ACAG	A	LDLR	c.2536_2538del	NM_000527.5	NP_000518.1:p.(Ser846del)	NC_000019.9:g.11240335_11240337del	VUS	1 lab	456cfb52f2
2:179595116 TTN AC>A	2	179595116	179595117	AC	A	TTN	c.18029-19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595117del	(Likely) benign	1 lab	456eebc717
18:3449068 MISSING Ref too long to show for this DEL>G	18	3449068	3460916	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.3449070_3460916del	(Likely) pathogenic	1 lab	456fb88db0
6:149699089 TAB2 A>G	6	149699089	149699089	A	G	TAB2	c.103-65A>G	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149699089A>G	(Likely) benign	1 lab	45705bbf3e
11:86663004 FZD4 TA>T	11	86663004	86663007	TA	T	FZD4	c.793del	NM_012193.4	NP_036325.2:p.(Tyr265IlefsTer9)	NC_000011.9:g.86663007del	(Likely) pathogenic	1 lab	4570f5e2b8
19:45412032 APOE G>A	19	45412032	45412032	G	A	APOE	c.557G>A	NM_001302688.2	NP_001289617.1:p.(Arg186His)	NC_000019.9:g.45412032G>A	VUS	1 lab	45727bff9c
4:100511993 MTTP TACAC>T	4	100511993	100512021	TACAC	T	MTTP	c.502-374_502-371del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512018_100512021del	(Likely) benign	1 lab	4572aace6f
18:12337410 AFG3L2 C>T	18	12337410	12337410	C	T	AFG3L2	c.2105G>A	NM_006796.3	NP_006787.2:p.(Arg702Gln)	NC_000018.9:g.12337410C>T	(Likely) pathogenic	1 lab	4574e1a3a7
2:182521480 CERKL G>C	2	182521480	182521480	G	C	CERKL	c.238+16C>G	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182521480G>C	(Likely) benign	1 lab	45754228fb
4:100528300 MTTP CCTATAT>C	4	100528300	100528313	CCTATAT	C	MTTP	c.1557+191_1557+196del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528308_100528313del	(Likely) benign	1 lab	457cc534f8
2:44548506 PREPL G>A	2	44548506	44548506	G	A	PREPL	c.2173C>T	NM_006036.4	NP_006027.2:p.(Leu725=)	NC_000002.11:g.44548506G>A	(Likely) benign	1 lab	457cf3fb9b
22:50659182 TUBGCP6 C>A	22	50659182	50659182	C	A	TUBGCP6	c.3606G>T	NM_020461.4	NP_065194.3:p.(Val1202=)	NC_000022.10:g.50659182C>A	(Likely) benign	1 lab	45822712ef
1:89521841 GBP1 G>C	1	89521841	89521841	G	C	GBP1	c.1226C>G	NM_002053.3	NP_002044.2:p.(Ala409Gly)	NC_000001.10:g.89521841G>C	(Likely) benign	1 lab	458669f283
17:42429424 GRN C>A	17	42429424	42429424	C	A	GRN	c.1221C>A	NM_002087.4	NP_002078.1:p.(Gly407=)	NC_000017.10:g.42429424C>A	(Likely) benign	1 lab	458c1be1f1
2:179428411 TTN T>C	2	179428411	179428411	T	C	TTN	c.82448A>G	NM_001267550.2	NP_001254479.2:p.(Lys27483Arg)	NC_000002.11:g.179428411T>C	VUS	1 lab	458ca875e1
15:25599760 UBE3A C>T	15	25599760	25599760	C	T	UBE3A	c.2135G>A	NM_001354543.2	NP_001341472.1:p.(Arg712Lys)	NC_000015.9:g.25599760C>T	VUS	1 lab	458deefe96
6:75801260 COL12A1 A>T	6	75801260	75801260	A	T	COL12A1	c.8650-19T>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75801260A>T	(Likely) benign	1 lab	458fa91abe
18:34205521 FHOD3 C>A	18	34205521	34205521	C	A	FHOD3	c.1005C>A	NM_001281740.3	NP_001268669.1:p.(Pro335=)	NC_000018.9:g.34205521C>A	(Likely) benign	1 lab	459187aa6e
1:55517956 PCSK9 G>T	1	55517956	55517956	G	T	PCSK9	c.529G>T	NM_174936.4	NP_777596.2:p.(Gly177Cys)	NC_000001.10:g.55517956G>T	VUS	1 lab	4595f9c7b9
15:52605941 MYO5A G>C	15	52605941	52605941	G	C	MYO5A	c.5520C>G	NM_000259.3	NP_000250.3:p.(Thr1840=)	NC_000015.9:g.52605941G>C	(Likely) benign	1 lab	459652dcd2
19:10089262 COL5A3 G>A	19	10089262	10089262	G	A	COL5A3	c.3006C>T	NM_015719.4	NP_056534.2:p.(Pro1002=)	NC_000019.9:g.10089262G>A	(Likely) benign	1 lab	4596844f34
2:179430997 TTN-AS1 G>A	2	179430997	179430997	G	A	TTN-AS1	n.2044-16302G>A	NR_038272.1		NC_000002.11:g.179430997G>A	(Likely) benign	1 lab	4598b52158
2:44071852 ABCG8 G>C	2	44071852	44071852	G	C	ABCG8	c.165+105G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071852G>C	(Likely) benign	1 lab	459cd20018
2:220505237 SLC4A3 C>T	2	220505237	220505237	C	T	SLC4A3	c.3363C>T	NM_005070.4	NP_005061.3:p.(Ser1121=)	NC_000002.11:g.220505237C>T	(Likely) benign	1 lab	45a22c30ba
3:13612459 FBLN2 G>C	3	13612459	13612459	G	C	FBLN2	c.604G>C	NM_001004019.2	NP_001004019.1:p.(Glu202Gln)	NC_000003.11:g.13612459G>C	(Likely) benign	1 lab	45a236547c
3:195507620 MUC4 T>A	3	195507620	195507620	T	A	MUC4	c.10831A>T	NM_018406.7	NP_060876.5:p.(Thr3611Ser)	NC_000003.11:g.195507620T>A	(Likely) benign	1 lab	45a3d32fbd
1:237550698 RYR2 A>G	1	237550698	237550698	A	G	RYR2	c.676+18A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237550698A>G	(Likely) benign	1 lab	45a3f0ff8f
3:171417632 PLD1 C>G	3	171417632	171417632	C	G	PLD1	c.1146-16G>C	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171417632C>G	(Likely) benign	1 lab	45a49c1bbb
9:107622483 ABCA1 A>G	9	107622483	107622483	A	G	ABCA1	c.543+1477T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107622483A>G	(Likely) benign	1 lab	45a9876d42
X:9621639 TBL1X G>T	X	9621639	9621639	G	T	TBL1X	c.13G>T	NM_005647.4	NP_005638.1:p.(Ala5Ser)	NC_000023.10:g.9621639G>T	(Likely) benign	1 lab	45aa53811c
18:28673594 DSC2 C>A	18	28673594	28673594	C	A	DSC2	c.82G>T	NM_004949.5	NP_004940.1:p.(Ala28Ser)	NC_000018.9:g.28673594C>A	VUS	1 lab	45afaeb7da
2:189854870 COL3A1 C>A	2	189854870	189854870	C	A	COL3A1	c.739C>A	NM_000090.4	NP_000081.2:p.(Pro247Thr)	NC_000002.11:g.189854870C>A	VUS	1 lab	45b072cf8c
1:152190350 HRNR A>G	1	152190350	152190350	A	G	HRNR	c.3755T>C	NM_001009931.3	NP_001009931.1:p.(Leu1252Ser)	NC_000001.10:g.152190350A>G	(Likely) benign	1 lab	45b3a1e3b4
10:88451732 LDB3 G>C	10	88451732	88451732	G	C	LDB3	c.973G>C	NM_001171610.2	NP_001165081.1:p.(Glu325Gln)	NC_000010.10:g.88451732G>C	VUS	1 lab	45b3bbfeef
9:95481254 BICD2 C>A	9	95481254	95481254	C	A	BICD2	c.1673G>T	NM_001003800.2	NP_001003800.1:p.(Arg558Leu)	NC_000009.11:g.95481254C>A	VUS	1 lab	45b92eb093
4:106367654 PPA2 G>A	4	106367654	106367654	G	A	PPA2	c.327C>T	NM_176869.3	NP_789845.1:p.(Ala109=)	NC_000004.11:g.106367654G>A	(Likely) benign	1 lab	45bf1b2128
4:654378 PDE6B C>T	4	654378	654378	C	T	PDE6B	c.1590C>T	NM_000283.4	NP_000274.3:p.(Val530=)	NC_000004.11:g.654378C>T	(Likely) benign	1 lab	45c0b48180
9:79827964 VPS13A G>C	9	79827964	79827964	G	C	VPS13A	c.615+20G>C	NM_001018037.2	NP_001018047.1:p.?	NC_000009.11:g.79827964G>C	(Likely) benign	1 lab	45c4b859db
13:20580643 ZMYM2 A>T	13	20580643	20580643	A	T	ZMYM2	c.1429A>T	NM_001353162.3	NP_001340091.1:p.(Lys477Ter)	NC_000013.10:g.20580643A>T	(Likely) pathogenic	1 lab	45c4c7241c
14:90451530 TDP1 T>C	14	90451530	90451530	T	C	TDP1	c.1107T>C	NM_018319.4	NP_060789.2:p.(Asn369=)	NC_000014.8:g.90451530T>C	(Likely) benign	1 lab	45c5903ee2
14:75514635 MLH3 T>C	14	75514635	75514635	T	C	MLH3	c.1724A>G	NM_001040108.2	NP_001035197.1:p.(His575Arg)	NC_000014.8:g.75514635T>C	(Likely) benign	1 lab	45c5b8e77b
16:70977801 HYDIN T>G	16	70977801	70977801	T	G	HYDIN	c.6583A>C	NM_001270974.2	NP_001257903.1:p.(Ser2195Arg)	NC_000016.9:g.70977801T>G	(Likely) benign	1 lab	45c88aaec3
18:47116910 LIPG T>G	18	47116910	47116910	T	G	LIPG	c.*18T>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116910T>G	(Likely) benign	1 lab	45d2dbd4e9
9:21363139 MISSING Ref too long to show for this DEL>T	9	21363139	21396550	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.21363140_21396550del	VUS	1 lab	45d4605b66
4:155382145 MISSING Ref too long to show for this DEL>G	4	155382145	155421761	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.155382146_155421761del	VUS	1 lab	45d47c0008
7:128483882 FLNC G>A	7	128483882	128483882	G	A	FLNC	c.2844G>A	NM_001458.5	NP_001449.3:p.(Gly948=)	NC_000007.13:g.128483882G>A	(Likely) benign	1 lab	45d6f9b62b
12:50498374 GPD1 AGATCGTG>A	12	50498374	50498382	AGATCGTG	A	GPD1	c.61_67del	NM_005276.4	NP_005267.2:p.(Ile21ValfsTer14)	NC_000012.11:g.50498376_50498382del	VUS	1 lab	45d7442bd1
2:21260084 APOB G>A	2	21260084	21260084	G	A	APOB	c.581C>T	NM_000384.3	NP_000375.3:p.(Thr194Met)	NC_000002.11:g.21260084G>A	(Likely) benign	1 lab	45d7928526
15:62199580 VPS13C T>A	15	62199580	62199580	T	A	VPS13C	c.8988A>T	NM_001018088.3	NP_001018098.1:p.(Pro2996=)	NC_000015.9:g.62199580T>A	(Likely) benign	1 lab	45daad2148
1:11259668 MTOR G>A	1	11259668	11259668	G	A	MTOR	c.4037C>T	NM_004958.4	NP_004949.1:p.(Thr1346Ile)	NC_000001.10:g.11259668G>A	VUS	1 lab	45db4e195d
2:38206638 RMDN2 Ref too long to show for this DEL>A	2	38206638	38216444	Ref too long to show for this DEL	A	RMDN2	c.731-1785_792-240del	NM_001170791.3	NP_001164262.1:p.?	NC_000002.11:g.38206641_38216444del	VUS	1 lab	45e09aca0a
2:233348114 ECEL1 G>A	2	233348114	233348114	G	A	ECEL1	c.1506+12C>T	NM_004826.4	NP_004817.2:p.?	NC_000002.11:g.233348114G>A	(Likely) benign	1 lab	45e312418f
10:133079677 MISSING Ref too long to show for this DEL>A	10	133079677	133126068	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.133079678_133126068del	VUS	1 lab	45f233019b
15:31217363 FAN1 C>G	15	31217363	31217363	C	G	FAN1	c.2206C>G	NM_014967.5	NP_055782.3:p.(Pro736Ala)	NC_000015.9:g.31217363C>G	VUS	1 lab	45f4745d02
13:32913350 BRCA2 T>C	13	32913350	32913350	T	C	BRCA2	c.4858T>C	NM_000059.4	NP_000050.3:p.(Leu1620=)	NC_000013.10:g.32913350T>C	(Likely) benign	1 lab	45f64994f4
6:36260924 MISSING Ref too long to show for this DEL>A	6	36260924	37923754	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.36260927_37923754del	VUS	1 lab	45f9328635
16:88787690 PIEZO1 G>A	16	88787690	88787690	G	A	PIEZO1	c.5552C>T	NM_001142864.4	NP_001136336.2:p.(Thr1851Met)	NC_000016.9:g.88787690G>A	(Likely) benign	1 lab	460d075508
9:139327599 INPP5E G>GCGCCCACCCCTCCAGCCACGCCCACCCCTCCAGCCA	9	139327599	139327608	G	GCGCCCACCCCTCCAGCCACGCCCACCCCTCCAGCCA	INPP5E	c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCG	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327607_139327608insCCTCCAGCCACGCCCACCCCTCCAGCCACGCCCACC	(Likely) benign	1 lab	45fd716f57
3:50683236 MAPKAPK3 C>A	3	50683236	50683236	C	A	MAPKAPK3	c.704+20C>A	NM_001243926.2	NP_001230855.1:p.?	NC_000003.11:g.50683236C>A	(Likely) benign	1 lab	45fe81d86a
7:138603217 KIAA1549 G>A	7	138603217	138603217	G	A	KIAA1549	c.1155C>T	NM_001164665.2	NP_001158137.1:p.(Ser385=)	NC_000007.13:g.138603217G>A	(Likely) benign	1 lab	45fec6f6d4
8:6378784 ANGPT2 C>A	8	6378784	6378784	C	A	ANGPT2	c.714G>T	NM_001147.3	NP_001138.1:p.(Thr238=)	NC_000008.10:g.6378784C>A	(Likely) benign	1 lab	46d8e96a2d
6:32714111 HLA-DQA2 T>C	6	32714111	32714111	T	C	HLA-DQA2	c.708T>C	NM_020056.5	NP_064440.1:p.(Thr236=)	NC_000006.11:g.32714111T>C	(Likely) benign	1 lab	460313b150
16:67976899 LCAT C>G	16	67976899	67976899	C	G	LCAT	c.312-20G>C	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976899C>G	(Likely) benign	1 lab	46041725a5
9:107558696 ABCA1 C>T	9	107558696	107558696	C	T	ABCA1	c.5131G>A	NM_005502.4	NP_005493.2:p.(Val1711Ile)	NC_000009.11:g.107558696C>T	(Likely) benign	1 lab	4605303074
7:100855001 PLOD3 C>T	7	100855001	100855001	C	T	PLOD3	c.1233-4G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855001C>T	(Likely) benign	1 lab	460a14bf9d
8:19819682 LPL C>T	8	19819682	19819682	C	T	LPL	c.1379C>T	NM_000237.3	NP_000228.1:p.(Ala460Val)	NC_000008.10:g.19819682C>T	(Likely) benign	1 lab	460b07b6f9
7:127892203 LEP C>T	7	127892203	127892203	C	T	LEP	c.132C>T	NM_000230.3	NP_000221.1:p.(Asp44=)	NC_000007.13:g.127892203C>T	(Likely) benign	1 lab	460c583a34
13:52518229 ATP7B G>A	13	52518229	52518229	G	A	ATP7B	c.3243+16C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52518229G>A	(Likely) benign	1 lab	460cab85cb
12:21377774 SLCO1B1 G>A	12	21377774	21377774	G	A	SLCO1B1	c.1865+1G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21377774G>A	(Likely) benign	1 lab	4610468644
19:12774532 MAN2B1 C>A	19	12774532	12774532	C	A	MAN2B1	c.748G>T	NM_000528.4	NP_000519.2:p.(Ala250Ser)	NC_000019.9:g.12774532C>A	(Likely) benign	1 lab	4614a5c962
X:153217577 HCFC1 C>G	X	153217577	153217577	C	G	HCFC1	c.4975G>C	NM_005334.3	NP_005325.2:p.(Ala1659Pro)	NC_000023.10:g.153217577C>G	(Likely) benign	1 lab	461d7da6bc
2:21232153 APOB C>T	2	21232153	21232153	C	T	APOB	c.7587G>A	NM_000384.3	NP_000375.3:p.(Gln2529=)	NC_000002.11:g.21232153C>T	(Likely) benign	1 lab	462045f66c
9:137653828 COL5A1 G>A	9	137653828	137653828	G	A	COL5A1	c.1989+4G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137653828G>A	(Likely) benign	1 lab	4622c55f90
4:100528154 MTTP G>GA	4	100528154	100528165	G	GA	MTTP	c.1557+48dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528165dup	(Likely) benign	1 lab	4623dd00db
1:50884773 DMRTA2 CCGGCGG>C	1	50884773	50884802	CCGGCGG	C	DMRTA2	c.1187_1192del	NM_032110.3	NP_115486.1:p.(Ala396_Ala397del)	NC_000001.10:g.50884797_50884802del	(Likely) benign	1 lab	4627601b25
19:45411081 APOE C>T	19	45411081	45411081	C	T	APOE	c.186C>T	NM_001302688.2	NP_001289617.1:p.(Thr62=)	NC_000019.9:g.45411081C>T	(Likely) benign	1 lab	4627c03e0f
10:127542778 DHX32 G>GA	10	127542778	127542787	G	GA	DHX32	c.850-7dup	NM_018180.3	NP_060650.2:p.?	NC_000010.10:g.127542787dup	(Likely) benign	1 lab	4628af9d6c
9:133928039 LAMC3 G>A	9	133928039	133928039	G	A	LAMC3	c.1792G>A	NM_006059.4	NP_006050.3:p.(Gly598Arg)	NC_000009.11:g.133928039G>A	(Likely) benign	1 lab	462951c80c
9:130965872 DNM1 C>A	9	130965872	130965872	C	A	DNM1	c.123C>A	NM_001288738.2	NP_001275667.1:p.(Ser41Arg)	NC_000009.11:g.130965872C>A	(Likely) pathogenic	1 lab	462953c5c2
6:7556044 DSP C>T	6	7556044	7556044	C	T	DSP	c.264C>T	NM_004415.4	NP_004406.2:p.(Ile88=)	NC_000006.11:g.7556044C>T	(Likely) benign	1 lab	462ec92c7c
1:55525313 PCSK9 A>G	1	55525313	55525313	A	G	PCSK9	c.1658A>G	NM_174936.4	NP_777596.2:p.(His553Arg)	NC_000001.10:g.55525313A>G	VUS	1 lab	4631725f09
17:68171179 KCNJ2 C>T	17	68171179	68171179	C	T	KCNJ2	c.-2C>T	NM_000891.3	NP_000882.1:p.?	NC_000017.10:g.68171179C>T	(Likely) benign	1 lab	46341c5776
14:23863540 MYH6 G>C	14	23863540	23863540	G	C	MYH6	c.2430-8C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863540G>C	(Likely) benign	1 lab	4635a60c89
8:1842572 ARHGEF10 C>T	8	1842572	1842572	C	T	ARHGEF10	c.1274C>T	NM_014629.4	NP_055444.2:p.(Pro425Leu)	NC_000008.10:g.1842572C>T	VUS	1 lab	4635e605b0
14:75019002 LTBP2 C>T	14	75019002	75019002	C	T	LTBP2	c.1287G>A	NM_000428.3	NP_000419.1:p.(Leu429=)	NC_000014.8:g.75019002C>T	(Likely) benign	1 lab	46371efa68
10:112583525 RBM20 C>G	10	112583525	112583525	C	G	RBM20	c.3451+153C>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583525C>G	(Likely) benign	1 lab	46374fb4a0
14:36986904 NKX2-1 T>TCCTGCTGCAGTTGCTGCTGC	14	36986904	36986924	T	TCCTGCTGCAGTTGCTGCTGC	NKX2-1	c.675_694dup	NM_003317.4	NP_003308.1:p.(Asp232GlyfsTer40)	NC_000014.8:g.36986905_36986924dup	(Likely) pathogenic	1 lab	4639abef9f
7:116395440 MET G>C	7	116395440	116395440	G	C	MET	c.1733G>C	NM_001127500.3	NP_001120972.1:p.(Gly578Ala)	NC_000007.13:g.116395440G>C	VUS	1 lab	463a6ee2d2
2:189874803 COL3A1 A>G	2	189874803	189874803	A	G	COL3A1	c.3824-101A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189874803A>G	(Likely) benign	1 lab	463b7715bb
X:18582646 CDKL5 G>GATAT	X	18582646	18582670	G	GATAT	CDKL5	c.145+25_145+28dup	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18582667_18582670dup	(Likely) benign	1 lab	463e4c10ba
2:197080640 HECW2 C>A	2	197080640	197080640	C	A	HECW2	c.4556G>T	NM_020760.4	NP_065811.1:p.(Gly1519Val)	NC_000002.11:g.197080640C>A	VUS	1 lab	46424089ff
1:3350305 PRDM16 T>C	1	3350305	3350305	T	C	PRDM16	c.3761T>C	NM_022114.4	NP_071397.3:p.(Leu1254Pro)	NC_000001.10:g.3350305T>C	VUS	1 lab	4642c6fcf2
4:81711173 MISSING Ref too long to show for this DEL>T	4	81711173	84074878	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.81711175_84074878del	(Likely) pathogenic	1 lab	4642ef6970
14:105173964 INF2 C>T	14	105173964	105173964	C	T	INF2	c.1360C>T	NM_001031714.4	NP_001026884.3:p.(Leu454Phe)	NC_000014.8:g.105173964C>T	VUS	1 lab	46438cb886
8:145625594 CPSF1 G>A	8	145625594	145625594	G	A	CPSF1	c.903C>T	NM_013291.3	NP_037423.2:p.(Asn301=)	NC_000008.10:g.145625594G>A	(Likely) benign	1 lab	464419ccc3
5:127713530 FBN2 G>A	5	127713530	127713530	G	A	FBN2	c.1764C>T	NM_001999.4	NP_001990.2:p.(Asn588=)	NC_000005.9:g.127713530G>A	(Likely) benign	1 lab	4644ca022b
9:101899924 TGFBR1 T>C	9	101899924	101899924	T	C	TGFBR1	c.575-217T>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101899924T>C	(Likely) benign	1 lab	464604ab70
5:138163185 CTNNA1 G>A	5	138163185	138163185	G	A	CTNNA1	c.859-19G>A	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138163185G>A	(Likely) benign	1 lab	4647068b82
5:110077803 SLC25A46 C>T	5	110077803	110077803	C	T	SLC25A46	c.326+13C>T	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110077803C>T	(Likely) benign	1 lab	464b587915
17:59761308 BRIP1 A>G	17	59761308	59761308	A	G	BRIP1	c.3099T>C	NM_032043.3	NP_114432.2:p.(Pro1033=)	NC_000017.10:g.59761308A>G	(Likely) benign	1 lab	465236ac9f
3:123419687 MYLK G>A	3	123419687	123419687	G	A	MYLK	c.2628C>T	NM_053025.4	NP_444253.3:p.(Arg876=)	NC_000003.11:g.123419687G>A	(Likely) benign	1 lab	4652893789
6:129691120 LAMA2 C>T	6	129691120	129691120	C	T	LAMA2	c.4944C>T	NM_000426.4	NP_000417.3:p.(Asn1648=)	NC_000006.11:g.129691120C>T	(Likely) benign	1 lab	4653ba7165
19:11230868 LDLR C>T	19	11230868	11230868	C	T	LDLR	c.1946C>T	NM_000527.5	NP_000518.1:p.(Pro649Leu)	NC_000019.9:g.11230868C>T	VUS	1 lab	465c2faa7f
1:201351449 LAD1 T>C	1	201351449	201351449	T	C	LAD1	c.1479A>G	NM_005558.4	NP_005549.2:p.(Ala493=)	NC_000001.10:g.201351449T>C	(Likely) benign	1 lab	465f08a326
X:111003171 ALG13 A>G	X	111003171	111003171	A	G	ALG13	c.3124A>G	NM_001257231.2	NP_001244160.1:p.(Ile1042Val)	NC_000023.10:g.111003171A>G	(Likely) benign	1 lab	466754061b
2:44102519 ABCG8 G>C	2	44102519	44102519	G	C	ABCG8	c.1723G>C	NM_022437.3	NP_071882.1:p.(Gly575Arg)	NC_000002.11:g.44102519G>C	(Likely) pathogenic	1 lab	4668597671
19:40329748 FBL G>A	19	40329748	40329748	G	A	FBL	c.476C>T	NM_001436.4	NP_001427.2:p.(Pro159Leu)	NC_000019.9:g.40329748G>A	VUS	1 lab	46688c968c
12:48390534 COL2A1 A>T	12	48390534	48390534	A	T	COL2A1	c.532-126T>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48390534A>T	VUS	1 lab	466a3fc816
2:47177617 TTC7A C>T	2	47177617	47177617	C	T	TTC7A	c.198C>T	NM_001288953.2	NP_001275882.1:p.(Ser66=)	NC_000002.11:g.47177617C>T	(Likely) benign	1 lab	466bad2801
7:112090783 IFRD1 A>G	7	112090783	112090783	A	G	IFRD1	c.40A>G	NM_001007245.3	NP_001007246.1:p.(Ser14Gly)	NC_000007.13:g.112090783A>G	VUS	1 lab	466f712b87
10:126133260 MISSING Ref too long to show for this DEL>T	10	126133260	126173861	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.126133262_126173861del	VUS	1 lab	467504bf95
2:220283298 DES G>T	2	220283298	220283298	G	T	DES	c.114G>T	NM_001927.4	NP_001918.3:p.(Ala38=)	NC_000002.11:g.220283298G>T	(Likely) benign	1 lab	4676593274
11:116706692 APOA1 T>C	11	116706692	116706692	T	C	APOA1	c.636A>G	NM_000039.3	NP_000030.1:p.(Arg212=)	NC_000011.9:g.116706692T>C	(Likely) benign	1 lab	46788ba1ab
20:10630691 JAG1 C>T	20	10630691	10630691	C	T	JAG1	c.1234+204G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10630691C>T	(Likely) benign	1 lab	4679b5f22c
2:179495833 TTN A>G	2	179495833	179495833	A	G	TTN	c.43942T>C	NM_001267550.2	NP_001254479.2:p.(Leu14648=)	NC_000002.11:g.179495833A>G	(Likely) benign	1 lab	467b60b13e
19:50591937 MISSING Ref too long to show for this DEL>A	19	50591937	50699945	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.50591938_50699945del	VUS	1 lab	467c801de4
7:94042412 COL1A2 C>T	7	94042412	94042412	C	T	COL1A2	c.1521C>T	NM_000089.4	NP_000080.2:p.(Asn507=)	NC_000007.13:g.94042412C>T	(Likely) benign	1 lab	467e43893d
15:67480042 SMAD3 G>A	15	67480042	67480042	G	A	SMAD3	c.1154+195G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67480042G>A	(Likely) benign	1 lab	467eda0bd5
2:179413648 TTN G>GC	2	179413648	179413649	G	GC	TTN	c.92704dup	NM_001267550.2	NP_001254479.2:p.(Ala30902GlyfsTer8)	NC_000002.11:g.179413649dup	(Likely) pathogenic	1 lab	46804bfa3e
18:19358085 MIB1 G>C	18	19358085	19358085	G	C	MIB1	c.658G>C	NM_020774.4	NP_065825.1:p.(Asp220His)	NC_000018.9:g.19358085G>C	VUS	1 lab	468246cd46
1:237494291 RYR2 C>T	1	237494291	237494291	C	T	RYR2	c.273+9C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237494291C>T	(Likely) benign	1 lab	4683499e7e
18:77513667 CTDP1 G>A	18	77513667	77513667	G	A	CTDP1	c.2600G>A	NM_048368.4	NP_430255.2:p.(Ser867Asn)	NC_000018.9:g.77513667G>A	VUS	1 lab	468c79528d
13:32972900 BRCA2 ATATC>A	13	32972900	32972906	ATATC	A	BRCA2	c.10253_10256del	NM_000059.4	NP_000050.3:p.(Ile3418LysfsTer8)	NC_000013.10:g.32972903_32972906del	(Likely) benign	1 lab	468e2f6473
1:112318708 KCND3 G>A	1	112318708	112318708	G	A	KCND3	c.1959C>T	NM_004980.5	NP_004971.2:p.(Ser653=)	NC_000001.10:g.112318708G>A	(Likely) benign	1 lab	46915abaae
10:104377161 SUFU C>T	10	104377161	104377161	C	T	SUFU	c.1272C>T	NM_016169.4	NP_057253.2:p.(Tyr424=)	NC_000010.10:g.104377161C>T	(Likely) benign	1 lab	46935f9638
3:132407682 NPHP3 G>A	3	132407682	132407682	G	A	NPHP3	c.2937C>T	NM_153240.5	NP_694972.3:p.(Pro979=)	NC_000003.11:g.132407682G>A	(Likely) benign	1 lab	4695e5184f
12:974404 WNK1 T>C	12	974404	974404	T	C	WNK1	c.2268T>C	NM_213655.5	NP_998820.3:p.(Pro756=)	NC_000012.11:g.974404T>C	(Likely) benign	1 lab	47b10683f9
1:156834553 NTRK1 G>C	1	156834553	156834553	G	C	NTRK1	c.321G>C	NM_002529.4	NP_002520.2:p.(Ala107=)	NC_000001.10:g.156834553G>C	(Likely) benign	1 lab	46975637e7
1:3301765 PRDM16 C>T	1	3301765	3301765	C	T	PRDM16	c.488C>T	NM_022114.4	NP_071397.3:p.(Ala163Val)	NC_000001.10:g.3301765C>T	(Likely) benign	1 lab	4697901e6e
22:30506340 HORMAD2 Ref too long to show for this DEL>C	22	30506340	30534048	Ref too long to show for this DEL	C	HORMAD2	c.295-1444_819+15845del	NM_152510.4	NP_689723.1:p.?	NC_000022.10:g.30506341_30534048del	VUS	1 lab	469aaac2ee
19:2117294 AP3D1 C>T	19	2117294	2117294	C	T	AP3D1	c.1786G>A	NM_001261826.3	NP_001248755.1:p.(Val596Ile)	NC_000019.9:g.2117294C>T	VUS	1 lab	469bce22a6
16:88798332 PIEZO1 A>AGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATGGGGATGCACTGAGTCTGGGGAT	16	88798332	88798341	A	AGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATGGGGATGCACTGAGTCTGGGGAT	PIEZO1	c.2992-15_2992-14insATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATGGGGATGCACTGAGTCTGGGGATGGGCGGGG	(Likely) benign	1 lab	469db977e3
3:49699371 BSN A>G	3	49699371	49699371	A	G	BSN	c.10093A>G	NM_003458.4	NP_003449.2:p.(Met3365Val)	NC_000003.11:g.49699371A>G	(Likely) benign	1 lab	469ddcdc2a
1:5924411 NPHP4 G>A	1	5924411	5924411	G	A	NPHP4	c.3983C>T	NM_015102.5	NP_055917.1:p.(Pro1328Leu)	NC_000001.10:g.5924411G>A	VUS	1 lab	469de4636d
19:39019603 RYR1 CAGG>C	19	39019603	39019619	CAGG	C	RYR1	c.11061_11063del	NM_000540.3	NP_000531.2:p.(Glu3689del)	NC_000019.9:g.39019617_39019619del	(Likely) benign	1 lab	469e09e33c
17:6337271 AIPL1 G>A	17	6337271	6337271	G	A	AIPL1	c.244C>T	NM_014336.5	NP_055151.3:p.(His82Tyr)	NC_000017.10:g.6337271G>A	(Likely) benign	1 lab	46a0098a1f
5:86679519 RASA1 C>T	5	86679519	86679519	C	T	RASA1	c.2691-11C>T	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86679519C>T	(Likely) benign	1 lab	46a086bad6
13:32945182 BRCA2 A>G	13	32945182	32945182	A	G	BRCA2	c.8577A>G	NM_000059.4	NP_000050.3:p.(Gln2859=)	NC_000013.10:g.32945182A>G	(Likely) benign	1 lab	46a0c42de1
14:81557451 TSHR T>C	14	81557451	81557451	T	C	TSHR	c.431T>C	NM_000369.5	NP_000360.2:p.(Leu144Pro)	NC_000014.8:g.81557451T>C	VUS	1 lab	46a103fb2d
X:152772904 BGN C>T	X	152772904	152772904	C	T	BGN	c.909+261C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152772904C>T	(Likely) benign	1 lab	46a23de37c
16:75670344 KARS1 C>T	16	75670344	75670344	C	T	KARS1	c.566+8G>A	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75670344C>T	(Likely) benign	1 lab	46a4c4decc
14:23859379 MYH6 C>T	14	23859379	23859379	C	T	MYH6	c.3619G>A	NM_002471.4	NP_002462.2:p.(Glu1207Lys)	NC_000014.8:g.23859379C>T	VUS	1 lab	46a9f9cfdb
5:151095021 MISSING Ref too long to show for this DEL>A	5	151095021	151126010	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.151095022_151126010del	VUS	1 lab	46aac7df8f
2:21239772 APOB C>T	2	21239772	21239772	C	T	APOB	c.3122-251G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239772C>T	(Likely) benign	1 lab	46ab6e2c6f
2:189933029 COL5A2 A>G	2	189933029	189933029	A	G	COL5A2	c.1258-33T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189933029A>G	(Likely) benign	1 lab	46ab9e5ff6
19:5592769 SAFB2 G>A	19	5592769	5592769	G	A	SAFB2	c.2337C>T	NM_014649.3	NP_055464.1:p.(His779=)	NC_000019.9:g.5592769G>A	(Likely) benign	1 lab	46acae02a5
19:47260172 FKRP C>T	19	47260172	47260172	C	T	FKRP	c.1465C>T	NM_001039885.3	NP_001034974.1:p.(Leu489=)	NC_000019.9:g.47260172C>T	(Likely) benign	1 lab	46c2b2358c
5:89992941 ADGRV1 C>T	5	89992941	89992941	C	T	ADGRV1	c.8133C>T	NM_032119.4	NP_115495.3:p.(Ser2711=)	NC_000005.9:g.89992941C>T	(Likely) benign	1 lab	46ae6e544e
2:21256406 APOB T>G	2	21256406	21256406	T	G	APOB	c.905-16A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21256406T>G	(Likely) benign	1 lab	46b35617a2
2:179475728 TTN T>G	2	179475728	179475728	T	G	TTN	c.51128A>C	NM_001267550.2	NP_001254479.2:p.(Lys17043Thr)	NC_000002.11:g.179475728T>G	VUS	1 lab	46b3581dd8
1:230428469 MISSING T>Alt too long to show for this DUP	1	230428469	230537897	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.230428473_230537897dup	VUS	1 lab	46b37d87c6
14:105416170 AHNAK2 A>G	14	105416170	105416170	A	G	AHNAK2	c.5618T>C	NM_138420.4	NP_612429.2:p.(Ile1873Thr)	NC_000014.8:g.105416170A>G	(Likely) benign	1 lab	46b5fedb00
1:43223489 P3H1 C>T	1	43223489	43223489	C	T	P3H1	c.1045G>A	NM_022356.4	NP_071751.3:p.(Gly349Arg)	NC_000001.10:g.43223489C>T	(Likely) benign	1 lab	46b7692e90
X:69423720 MISSING A>Alt too long to show for this DUP	X	69423720	69447974	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69423721_69447974dup	VUS	1 lab	46b7d0ac56
12:27623255 MISSING Ref too long to show for this DEL>C	12	27623255	29052993	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.27623258_29052993del	(Likely) pathogenic	1 lab	46b900f3d6
7:106888946 COG5 TA>T	7	106888946	106888958	TA	T	COG5	c.1750-3del	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.106888958del	(Likely) benign	1 lab	46bbcb55d1
2:179613455 TTN C>A	2	179613455	179613455	C	A	TTN	c.10360+4396G>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179613455C>A	VUS	1 lab	46bc08199b
19:55665453 TNNI3 T>A	19	55665453	55665453	T	A	TNNI3	c.494A>T	NM_000363.5	NP_000354.4:p.(Glu165Val)	NC_000019.9:g.55665453T>A	VUS	1 lab	46bc383b95
2:21256207 APOB A>G	2	21256207	21256207	A	G	APOB	c.1088T>C	NM_000384.3	NP_000375.3:p.(Val363Ala)	NC_000002.11:g.21256207A>G	VUS	1 lab	46beb9b9a5
9:33386400 AQP7 A>G	9	33386400	33386400	A	G	AQP7	c.406+2T>C	NM_001170.3	NP_001161.1:p.?	NC_000009.11:g.33386400A>G	(Likely) benign	1 lab	46bf28d37d
1:230720028 MISSING A>Alt too long to show for this DUP	1	230720028	230766074	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.230720031_230766074dup	(Likely) pathogenic	1 lab	46c3ab77bb
1:74818946 TNNI3K T>TC	1	74818946	74818947	T	TC	TNNI3K	c.933-3dup	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74818947dup	(Likely) benign	1 lab	46c7afcd39
2:179395209 TTN G>T	2	179395209	179395209	G	T	TTN	c.98429C>A	NM_133378.4	NP_596869.4:p.(Ala32810Asp)	NC_000002.11:g.179395209G>T	VUS	1 lab	46c8143fd9
3:33166010 CRTAP C>T	3	33166010	33166010	C	T	CRTAP	c.732C>T	NM_006371.5	NP_006362.1:p.(Leu244=)	NC_000003.11:g.33166010C>T	(Likely) benign	1 lab	46c9e8bb96
7:105263025 MISSING Ref too long to show for this DEL>T	7	105263025	105534679	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.105263028_105534679del	VUS	1 lab	46cb402ec4
X:70443931 GJB1 T>A	X	70443931	70443931	T	A	GJB1	c.374T>A	NM_000166.6	NP_000157.1:p.(Val125Asp)	NC_000023.10:g.70443931T>A	(Likely) pathogenic	1 lab	46cb4f7027
2:21229948 APOB G>A	2	21229948	21229948	G	A	APOB	c.9792C>T	NM_000384.3	NP_000375.3:p.(Thr3264=)	NC_000002.11:g.21229948G>A	(Likely) benign	1 lab	46cc150495
4:123664334 BBS12 T>C	4	123664334	123664334	T	C	BBS12	c.1287T>C	NM_001178007.2	NP_001171478.1:p.(Ser429=)	NC_000004.11:g.123664334T>C	(Likely) benign	1 lab	46cef2030d
15:32460616 CHRNA7 C>T	15	32460616	32460616	C	T	CHRNA7	c.1553C>T	NM_001190455.3	NP_001177384.1:p.(Ser518Leu)	NC_000015.9:g.32460616C>T	(Likely) benign	1 lab	46d02ab55c
18:47093934 LIPG G>A	18	47093934	47093934	G	A	LIPG	c.402G>A	NM_006033.4	NP_006024.1:p.(Ala134=)	NC_000018.9:g.47093934G>A	(Likely) benign	1 lab	46d0f414b8
1:116311182 CASQ2 T>A	1	116311182	116311182	T	A	CASQ2	c.-20A>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116311182T>A	(Likely) benign	1 lab	46d2585c5d
14:102445736 DYNC1H1 A>C	14	102445736	102445736	A	C	DYNC1H1	c.425A>C	NM_001376.5	NP_001367.2:p.(Glu142Ala)	NC_000014.8:g.102445736A>C	VUS	1 lab	46d270f629
2:69586446 GFPT1 A>G	2	69586446	69586446	A	G	GFPT1	c.362T>C	NM_001244710.2	NP_001231639.1:p.(Ile121Thr)	NC_000002.11:g.69586446A>G	(Likely) pathogenic	1 lab	46d4632b17
2:21236204 APOB C>CA	2	21236204	21236205	C	CA	APOB	c.4043dup	NM_000384.3	NP_000375.3:p.(Gln1349AlafsTer46)	NC_000002.11:g.21236205dup	(Likely) pathogenic	1 lab	46d8232f5d
2:227953448 COL4A4 C>T	2	227953448	227953448	C	T	COL4A4	c.1544G>A	NM_000092.5	NP_000083.3:p.(Gly515Glu)	NC_000002.11:g.227953448C>T	(Likely) pathogenic	1 lab	46d844423d
2:112777052 MERTK G>C	2	112777052	112777052	G	C	MERTK	c.2142G>C	NM_006343.3	NP_006334.2:p.(Leu714=)	NC_000002.11:g.112777052G>C	(Likely) benign	1 lab	46d94fa797
12:133210968 POLE T>C	12	133210968	133210968	T	C	POLE	c.5812-4A>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133210968T>C	(Likely) benign	1 lab	46dbc53c03
7:100401064 EPHB4 G>A	7	100401064	100401064	G	A	EPHB4	c.*19C>T	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100401064G>A	(Likely) benign	1 lab	46dc45e26f
12:125302259 SCARB1 G>A	12	125302259	125302259	G	A	SCARB1	c.127-6C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125302259G>A	(Likely) benign	1 lab	46dcfd3f55
7:128496872 FLNC C>T	7	128496872	128496872	C	T	FLNC	c.7458C>T	NM_001458.5	NP_001449.3:p.(His2486=)	NC_000007.13:g.128496872C>T	(Likely) benign	1 lab	46de96bf9f
19:11226585 LDLR G>A	19	11226585	11226585	G	A	LDLR	c.1587-185G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226585G>A	(Likely) benign	1 lab	46e2be5c5f
X:109867637 MISSING Ref too long to show for this DEL>A	X	109867637	110008536	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.109867638_110008536del	VUS	1 lab	46e3c75f15
19:11200433 LDLR G>A	19	11200433	11200433	G	A	LDLR	c.67+142G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200433G>A	VUS	1 lab	46ec2be290
11:2798232 KCNQ1 G>A	11	2798232	2798232	G	A	KCNQ1	c.1702G>A	NM_000218.3	NP_000209.2:p.(Gly568Arg)	NC_000011.9:g.2798232G>A	(Likely) pathogenic	1 lab	46ed05b57a
9:4118757 GLIS3 C>T	9	4118757	4118757	C	T	GLIS3	c.721G>A	NM_001042413.2	NP_001035878.1:p.(Gly241Ser)	NC_000009.11:g.4118757C>T	(Likely) benign	1 lab	46ef19aabe
5:82849188 VCAN G>A	5	82849188	82849188	G	A	VCAN	c.9499G>A	NM_004385.5	NP_004376.2:p.(Glu3167Lys)	NC_000005.9:g.82849188G>A	VUS	1 lab	46ef3a13d5
5:140050940 DND1 C>T	5	140050940	140050940	C	T	DND1	c.1000G>A	NM_194249.3	NP_919225.1:p.(Glu334Lys)	NC_000005.9:g.140050940C>T	(Likely) benign	1 lab	46f56aa815
11:9917526 SBF2 G>A	11	9917526	9917526	G	A	SBF2	c.1893C>T	NM_030962.4	NP_112224.1:p.(Ala631=)	NC_000011.9:g.9917526G>A	(Likely) benign	1 lab	46f7b4998a
7:91691590 AKAP9 G>A	7	91691590	91691590	G	A	AKAP9	c.5767G>A	NM_005751.5	NP_005742.4:p.(Val1923Ile)	NC_000007.13:g.91691590G>A	VUS	1 lab	46fc43d178
19:55367124 KIR3DL2 G>GCA	19	55367124	55367126	G	GCA	KIR3DL2	c.707_708dup	NM_006737.4	NP_006728.2:p.(Gly237GlnfsTer5)	NC_000019.9:g.55367125_55367126dup	(Likely) benign	1 lab	4702f59579
2:44079968 ABCG8 T>C	2	44079968	44079968	T	C	ABCG8	c.925T>C	NM_022437.3	NP_071882.1:p.(Tyr309His)	NC_000002.11:g.44079968T>C	VUS	1 lab	4703e540c9
2:219677812 CYP27A1 T>C	2	219677812	219677812	T	C	CYP27A1	c.1010T>C	NM_000784.4	NP_000775.1:p.(Val337Ala)	NC_000002.11:g.219677812T>C	(Likely) pathogenic	1 lab	470c36a3d7
11:47304155 MADD C>T	11	47304155	47304155	C	T	MADD	c.1693C>T	NM_001376576.1	NP_001363505.1:p.(Arg565Ter)	NC_000011.9:g.47304155C>T	(Likely) pathogenic	1 lab	470f021ef0
X:38145357 RPGR C>T	X	38145357	38145357	C	T	RPGR	c.2895G>A	NM_001034853.2	NP_001030025.1:p.(Glu965=)	NC_000023.10:g.38145357C>T	(Likely) benign	1 lab	4712a3d99c
14:76438025 TGFB3 T>C	14	76438025	76438025	T	C	TGFB3	c.389A>G	NM_003239.5	NP_003230.1:p.(Lys130Arg)	NC_000014.8:g.76438025T>C	VUS	1 lab	4714e250aa
22:41566495 EP300 C>A	22	41566495	41566495	C	A	EP300	c.4372C>A	NM_001429.4	NP_001420.2:p.(Pro1458Thr)	NC_000022.10:g.41566495C>A	VUS	1 lab	47150cd124
9:107593300 ABCA1 C>T	9	107593300	107593300	C	T	ABCA1	c.1798G>A	NM_005502.4	NP_005493.2:p.(Val600Met)	NC_000009.11:g.107593300C>T	VUS	1 lab	4716652284
6:32025942 TNXB C>T	6	32025942	32025942	C	T	TNXB	c.7718G>A	NM_019105.8	NP_061978.6:p.(Ser2573Asn)	NC_000006.11:g.32025942C>T	(Likely) benign	1 lab	4717bb2f5f
1:156851441 NTRK1 G>T	1	156851441	156851441	G	T	NTRK1	c.*7G>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156851441G>T	(Likely) benign	1 lab	47183127bb
10:61834708 ANK3 T>C	10	61834708	61834708	T	C	ANK3	c.5931A>G	NM_020987.5	NP_066267.2:p.(Pro1977=)	NC_000010.10:g.61834708T>C	(Likely) benign	1 lab	471a6c4f2c
13:103524647 BIVM-ERCC5 C>G	13	103524647	103524647	C	G	BIVM-ERCC5	c.4140C>G	NM_001204425.2	NP_001191354.2:p.(Gly1380=)	NC_000013.10:g.103524647C>G	(Likely) benign	1 lab	471d0dd73e
X:152972501 BCAP31 A>Alt too long to show for this DUP	X	152972501	152991389	A	Alt too long to show for this DUP	BCAP31				NC_000023.10:g.152972502_152991389dup	VUS	1 lab	471d9b001c
18:58038794 MC4R G>C	18	58038794	58038794	G	C	MC4R	c.789C>G	NM_005912.3	NP_005903.2:p.(Leu263=)	NC_000018.9:g.58038794G>C	(Likely) benign	1 lab	471f016ee0
8:19796918 LPL G>C	8	19796918	19796918	G	C	LPL	c.-34G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796918G>C	VUS	1 lab	471f0eb384
14:23868079 MYH6 G>A	14	23868079	23868079	G	A	MYH6	c.1749C>T	NM_002471.4	NP_002462.2:p.(Tyr583=)	NC_000014.8:g.23868079G>A	(Likely) benign	1 lab	472284f130
11:46724643 ZNF408 C>T	11	46724643	46724643	C	T	ZNF408	c.502C>T	NM_024741.3	NP_079017.1:p.(Leu168=)	NC_000011.9:g.46724643C>T	(Likely) benign	1 lab	4722ce478c
15:58853425 LIPC T>C	15	58853425	58853425	T	C	LIPC	c.1169+245T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853425T>C	(Likely) benign	1 lab	4724160736
9:35698491 TLN1 C>A	9	35698491	35698491	C	A	TLN1	c.7200G>T	NM_006289.4	NP_006280.3:p.(Val2400=)	NC_000009.11:g.35698491C>A	(Likely) benign	1 lab	4727342c6f
17:41251907 BRCA1 A>G	17	41251907	41251907	A	G	BRCA1	c.442-10T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251907A>G	VUS	1 lab	47b237c2a4
12:21353526 SLCO1B1 A>G	12	21353526	21353526	A	G	SLCO1B1	c.1055A>G	NM_006446.5	NP_006437.3:p.(Tyr352Cys)	NC_000012.11:g.21353526A>G	(Likely) benign	1 lab	47287cc524
2:220492772 SLC4A3 G>T	2	220492772	220492772	G	T	SLC4A3	c.51+7G>T	NM_001326559.2	NP_001313488.2:p.?	NC_000002.11:g.220492772G>T	(Likely) benign	1 lab	4729ab46f7
12:125296455 SCARB1 G>C	12	125296455	125296455	G	C	SCARB1	c.687C>G	NM_001367981.1	NP_001354910.1:p.(Ser229Arg)	NC_000012.11:g.125296455G>C	VUS	1 lab	472aa46d2d
1:150676674 HORMAD1 TA>T	1	150676674	150676691	TA	T	HORMAD1	c.872-5del	NM_032132.5	NP_115508.2:p.?	NC_000001.10:g.150676691del	(Likely) benign	1 lab	472eff68d5
10:69935234 MYPN TTAG>T	10	69935234	69935237	TTAG	T	MYPN	c.2703+17_2703+19del	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69935235_69935237del	(Likely) benign	1 lab	472f25512c
9:107588034 ABCA1 C>T	9	107588034	107588034	C	T	ABCA1	c.2472G>A	NM_005502.4	NP_005493.2:p.(Ser824=)	NC_000009.11:g.107588034C>T	(Likely) benign	1 lab	4733776b24
15:73616166 HCN4 C>T	15	73616166	73616166	C	T	HCN4	c.2268G>A	NM_005477.3	NP_005468.1:p.(Ala756=)	NC_000015.9:g.73616166C>T	(Likely) benign	1 lab	4734808370
19:11224073 LDLR G>A	19	11224073	11224073	G	A	LDLR	c.1306G>A	NM_000527.5	NP_000518.1:p.(Val436Met)	NC_000019.9:g.11224073G>A	(Likely) pathogenic	1 lab	4735821874
1:55523030 PCSK9 C>T	1	55523030	55523030	C	T	PCSK9	c.1023C>T	NM_174936.4	NP_777596.2:p.(Ala341=)	NC_000001.10:g.55523030C>T	(Likely) benign	1 lab	473743b546
8:62594991 ASPH A>T	8	62594991	62594991	A	T	ASPH	c.254-1396T>A	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62594991A>T	(Likely) benign	1 lab	473cc598db
X:10166012 CLCN4 T>C	X	10166012	10166012	T	C	CLCN4	c.466T>C	NM_001830.4	NP_001821.2:p.(Tyr156His)	NC_000023.10:g.10166012T>C	VUS	1 lab	473d04ee07
19:41133192 LTBP4 A>T	19	41133192	41133192	A	T	LTBP4	c.4499A>T	NM_001042544.1	NP_001036009.1:p.(Tyr1500Phe)	NC_000019.9:g.41133192A>T	(Likely) benign	1 lab	473e52a212
19:11224306 LDLR A>G	19	11224306	11224306	A	G	LDLR	c.1454A>G	NM_000527.5	NP_000518.1:p.(His485Arg)	NC_000019.9:g.11224306A>G	(Likely) pathogenic	1 lab	4740a2e1bf
17:1271894 YWHAE Ref too long to show for this DEL>A	17	1271894	1284179	Ref too long to show for this DEL	A	YWHAE	c.65-15827_65-3543del	NM_006761.5	NP_006752.1:p.?	NC_000017.10:g.1271895_1284179del	VUS	1 lab	4740ba3e19
19:18879432 CRTC1 G>C	19	18879432	18879432	G	C	CRTC1	c.1197G>C	NM_001098482.2	NP_001091952.1:p.(Pro399=)	NC_000019.9:g.18879432G>C	(Likely) benign	1 lab	47428f76c4
3:148857972 HPS3 G>A	3	148857972	148857972	G	A	HPS3	c.399G>A	NM_032383.5	NP_115759.2:p.(Ser133=)	NC_000003.11:g.148857972G>A	VUS	1 lab	4744598996
2:44079151 ABCG8 C>G	2	44079151	44079151	C	G	ABCG8	c.561+190C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079151C>G	VUS	1 lab	47493b818c
11:47372979 MYBPC3 G>A	11	47372979	47372979	G	A	MYBPC3	c.103C>T	NM_000256.3	NP_000247.2:p.(Arg35Trp)	NC_000011.9:g.47372979G>A	VUS	1 lab	474a3211a3
9:128141726 MISSING Ref too long to show for this DEL>T	9	128141726	128206885	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.128141727_128206885del	VUS	1 lab	47523f9286
2:25467072 DNMT3A C>T	2	25467072	25467072	C	T	DNMT3A	c.1803G>A	NM_175629.2	NP_783328.1:p.(Trp601Ter)	NC_000002.11:g.25467072C>T	(Likely) pathogenic	1 lab	47525f1235
2:179575504 TTN G>A	2	179575504	179575504	G	A	TTN	c.28320C>T	NM_001267550.2	NP_001254479.2:p.(Gly9440=)	NC_000002.11:g.179575504G>A	(Likely) benign	1 lab	4753477903
15:50063707 MISSING Ref too long to show for this DEL>A	15	50063707	50279338	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.50063708_50279338del	VUS	1 lab	47556ee418
2:179604722 TTN C>G	2	179604722	179604722	C	G	TTN	c.13238G>C	NM_001267550.2	NP_001254479.2:p.(Gly4413Ala)	NC_000002.11:g.179604722C>G	VUS	1 lab	4756362ab0
22:41911428 ACO2 T>C	22	41911428	41911428	T	C	ACO2	c.573T>C	NM_001098.3	NP_001089.1:p.(Thr191=)	NC_000022.10:g.41911428T>C	(Likely) benign	1 lab	47574e2711
17:36495389 GPR179 C>T	17	36495389	36495389	C	T	GPR179	c.814G>A	NM_001004334.4	NP_001004334.3:p.(Val272Ile)	NC_000017.10:g.36495389C>T	(Likely) benign	1 lab	4758fa99cc
5:127702089 FBN2 A>G	5	127702089	127702089	A	G	FBN2	c.2283T>C	NM_001999.4	NP_001990.2:p.(Gly761=)	NC_000005.9:g.127702089A>G	(Likely) benign	1 lab	475921206f
11:119091563 MISSING G>Alt too long to show for this DUP	11	119091563	119336505	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.119091564_119336505dup	VUS	1 lab	475bac026b
6:70992590 COL9A1 C>G	6	70992590	70992590	C	G	COL9A1	c.801+11G>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70992590C>G	(Likely) benign	1 lab	47628dc4b5
3:193336664 OPA1 C>T	3	193336664	193336664	C	T	OPA1	c.617C>T	NM_130837.3	NP_570850.2:p.(Pro206Leu)	NC_000003.11:g.193336664C>T	VUS	1 lab	476418e81b
2:21246464 APOB A>C	2	21246464	21246464	A	C	APOB	c.2537T>G	NM_000384.3	NP_000375.3:p.(Leu846Trp)	NC_000002.11:g.21246464A>C	VUS	1 lab	476a4ea487
16:2136896 TSC2 G>T	16	2136896	2136896	G	T	TSC2	c.4989+24G>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2136896G>T	(Likely) benign	1 lab	476f3dfe8c
11:47365849 MYBPC3 C>T	11	47365849	47365849	C	T	MYBPC3	c.1091-674G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365849C>T	(Likely) benign	1 lab	4771d6ee41
2:179463243 TTN T>G	2	179463243	179463243	T	G	TTN	c.57101A>C	NM_001267550.2	NP_001254479.2:p.(Glu19034Ala)	NC_000002.11:g.179463243T>G	VUS	1 lab	47722b6bd6
14:23894613 MYH7 G>A	14	23894613	23894613	G	A	MYH7	c.2301C>T	NM_000257.4	NP_000248.2:p.(Ala767=)	NC_000014.8:g.23894613G>A	(Likely) benign	1 lab	47b45d6c0c
22:50903029 SBF1 T>A	22	50903029	50903029	T	A	SBF1	c.1570A>T	NM_002972.4	NP_002963.2:p.(Met524Leu)	NC_000022.10:g.50903029T>A	(Likely) benign	1 lab	4774ab0ce4
8:134276796 NDRG1 T>C	8	134276796	134276796	T	C	NDRG1	c.199A>G	NM_001135242.2	NP_001128714.1:p.(Met67Val)	NC_000008.10:g.134276796T>C	(Likely) benign	1 lab	4775b23750
16:919928 LMF1 C>T	16	919928	919928	C	T	LMF1	c.972G>A	NM_001352018.2	NP_001338947.1:p.(Pro324=)	NC_000016.9:g.919928C>T	(Likely) benign	1 lab	4775d95008
2:179552860 TTN T>C	2	179552860	179552860	T	C	TTN	c.32289A>G	NM_001267550.2	NP_001254479.2:p.(Glu10763=)	NC_000002.11:g.179552860T>C	(Likely) benign	1 lab	477a1665ac
19:11227550 LDLR G>A	19	11227550	11227550	G	A	LDLR	c.1721G>A	NM_000527.5	NP_000518.1:p.(Arg574His)	NC_000019.9:g.11227550G>A	(Likely) pathogenic	1 lab	477ceead7c
1:180886103 KIAA1614 C>T	1	180886103	180886103	C	T	KIAA1614	c.864C>T	NM_020950.2	NP_066001.1:p.(Ser288=)	NC_000001.10:g.180886103C>T	(Likely) benign	1 lab	477d01a23b
X:100494055 DRP2 T>G	X	100494055	100494055	T	G	DRP2	c.524T>G	NM_001939.3	NP_001930.2:p.(Phe175Cys)	NC_000023.10:g.100494055T>G	(Likely) benign	1 lab	477dddef70
22:40859306 MRTFA G>A	22	40859306	40859306	G	A	MRTFA	c.242-16C>T	NM_020831.6	NP_065882.2:p.?	NC_000022.10:g.40859306G>A	(Likely) benign	1 lab	47834b66ca
2:44066542 ABCG8 CTTTTTTTTTTTTTTTTT>C	2	44066542	44066583	CTTTTTTTTTTTTTTTTT	C	ABCG8	c.63+312_63+328del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066567_44066583del	(Likely) benign	1 lab	4783cef773
X:72433663 NAP1L2 GTCC>G	X	72433663	72433689	GTCC	G	NAP1L2	c.663_665del	NM_021963.4	NP_068798.1:p.(Glu221del)	NC_000023.10:g.72433687_72433689del	(Likely) benign	1 lab	47844bd95b
8:19811636 LPL G>A	8	19811636	19811636	G	A	LPL	c.547G>A	NM_000237.3	NP_000228.1:p.(Asp183Asn)	NC_000008.10:g.19811636G>A	(Likely) pathogenic	1 lab	47866ea17c
1:78383667 NEXN A>T	1	78383667	78383667	A	T	NEXN	c.242A>T	NM_144573.4	NP_653174.3:p.(Asp81Val)	NC_000001.10:g.78383667A>T	VUS	1 lab	48ea239cda
2:128015217 ERCC3 C>T	2	128015217	128015217	C	T	ERCC3	c.2304G>A	NM_000122.2	NP_000113.1:p.(Ala768=)	NC_000002.11:g.128015217C>T	(Likely) benign	1 lab	47887e4611
22:24109787 CHCHD10 G>C	22	24109787	24109787	G	C	CHCHD10	c.42-7C>G	NM_001301339.2	NP_001288268.1:p.?	NC_000022.10:g.24109787G>C	(Likely) benign	1 lab	478960b1ca
2:29416759 ALK C>T	2	29416759	29416759	C	T	ALK	c.4194G>A	NM_004304.5	NP_004295.2:p.(Pro1398=)	NC_000002.11:g.29416759C>T	(Likely) benign	1 lab	478987d910
3:129247817 RHO G>A	3	129247817	129247817	G	A	RHO	c.241G>A	NM_000539.3	NP_000530.1:p.(Val81Met)	NC_000003.11:g.129247817G>A	VUS	1 lab	478bbbb7cc
18:6961588 LAMA1 G>A	18	6961588	6961588	G	A	LAMA1	c.7623C>T	NM_005559.4	NP_005550.2:p.(His2541=)	NC_000018.9:g.6961588G>A	(Likely) benign	1 lab	4792649e13
11:9719577 MISSING C>Alt too long to show for this DUP	11	9719577	9854857	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.9719579_9854857dup	VUS	1 lab	4793b6ed98
19:17731502 UNC13A G>A	19	17731502	17731502	G	A	UNC13A	c.4272C>T	NM_001080421.3	NP_001073890.2:p.(Asp1424=)	NC_000019.9:g.17731502G>A	VUS	1 lab	479c0f942e
4:119665200 SEC24D C>T	4	119665200	119665200	C	T	SEC24D	c.1941G>A	NM_001318066.2	NP_001304995.1:p.(Ser647=)	NC_000004.11:g.119665200C>T	(Likely) benign	1 lab	479ccb4771
19:11226560 LDLR C>T	19	11226560	11226560	C	T	LDLR	c.1587-210C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226560C>T	(Likely) benign	1 lab	479d25ce82
11:62381324 ROM1 G>A	11	62381324	62381324	G	A	ROM1	c.571G>A	NM_000327.4	NP_000318.2:p.(Gly191Ser)	NC_000011.9:g.62381324G>A	(Likely) benign	1 lab	479d66b9fd
2:198267491 SF3B1 C>G	2	198267491	198267491	C	G	SF3B1	c.1866G>C	NM_012433.4	NP_036565.2:p.(Glu622Asp)	NC_000002.11:g.198267491C>G	VUS	1 lab	47a2ee9f27
3:48624399 COL7A1 C>G	3	48624399	48624399	C	G	COL7A1	c.3276+6G>C	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48624399C>G	(Likely) benign	1 lab	47a6d3df53
10:90984908 LIPA C>T	10	90984908	90984908	C	T	LIPA	c.616G>A	NM_000235.4	NP_000226.2:p.(Val206Ile)	NC_000010.10:g.90984908C>T	VUS	1 lab	47ac8703ea
2:50806529 MISSING Ref too long to show for this DEL>T	2	50806529	51400479	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.50806530_51400479del	(Likely) pathogenic	1 lab	47af95acb3
2:1500487 TPO A>C	2	1500487	1500487	A	C	TPO	c.2336A>C	NM_000547.6	NP_000538.3:p.(Gln779Pro)	NC_000002.11:g.1500487A>C	(Likely) pathogenic	1 lab	47b059f466
X:31198574 DMD A>C	X	31198574	31198574	A	C	DMD	c.9630T>G	NM_004010.3	NP_004001.1:p.(Asn3210Lys)	NC_000023.10:g.31198574A>C	VUS	1 lab	47b0701730
7:45424768 MISSING G>Alt too long to show for this DUP	7	45424768	45980574	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.45424769_45980574dup	VUS	1 lab	47b4f7be2f
13:48954282 RB1 CT>C	13	48954282	48954293	CT	C	RB1	c.1422-8del	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954293del	(Likely) benign	1 lab	47b56e7d8b
15:37387790 MEIS2 G>GA	15	37387790	37387796	G	GA	MEIS2	c.412dup	NM_170677.5	NP_733777.1:p.(Ser138PhefsTer33)	NC_000015.9:g.37387796dup	(Likely) pathogenic	1 lab	47b621559d
19:50333757 MED25 T>G	19	50333757	50333757	T	G	MED25	c.820-11T>G	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50333757T>G	(Likely) benign	1 lab	47b6fc705e
14:23857417 MYH6 G>A	14	23857417	23857417	G	A	MYH6	c.4306C>T	NM_002471.4	NP_002462.2:p.(Arg1436Cys)	NC_000014.8:g.23857417G>A	VUS	1 lab	47b7e824cb
1:63064429 ANGPTL3 T>C	1	63064429	63064429	T	C	ANGPTL3	c.558T>C	NM_014495.4	NP_055310.1:p.(Tyr186=)	NC_000001.10:g.63064429T>C	(Likely) benign	1 lab	47b86f206d
10:92678744 ANKRD1 A>ATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATAT	(Likely) benign	1 lab	47bbb007e8
16:67977104 LCAT G>C	16	67977104	67977104	G	C	LCAT	c.166C>G	NM_000229.2	NP_000220.1:p.(Leu56Val)	NC_000016.9:g.67977104G>C	VUS	1 lab	47bc68b828
11:108188112 ATM T>C	11	108188112	108188112	T	C	ATM	c.6211T>C	NM_000051.4	NP_000042.3:p.(Leu2071=)	NC_000011.9:g.108188112T>C	(Likely) benign	1 lab	47bcc18e66
15:89843040 FANCI A>G	15	89843040	89843040	A	G	FANCI	c.2646A>G	NM_001113378.2	NP_001106849.1:p.(Leu882=)	NC_000015.9:g.89843040A>G	(Likely) benign	1 lab	47bfd07b73
12:30837220 IPO8 T>C	12	30837220	30837220	T	C	IPO8	c.323+15A>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30837220T>C	(Likely) benign	1 lab	47e9fefcaf
1:74801702 FPGT-TNNI3K G>A	1	74801702	74801702	G	A	FPGT-TNNI3K	c.854G>A	NM_001112808.3	NP_001106279.3:p.(Arg285His)	NC_000001.10:g.74801702G>A	(Likely) benign	1 lab	47c4aa4c75
6:110959908 CDK19 T>C	6	110959908	110959908	T	C	CDK19	c.458A>G	NM_015076.5	NP_055891.1:p.(Lys153Arg)	NC_000006.11:g.110959908T>C	VUS	1 lab	47c6c34a6b
20:33225793 PIGU G>A	20	33225793	33225793	G	A	PIGU	c.319-4C>T	NM_080476.5	NP_536724.1:p.?	NC_000020.10:g.33225793G>A	(Likely) benign	1 lab	47c9ba21f0
2:44040451 ABCG5 G>A	2	44040451	44040451	G	A	ABCG5	c.1763-3C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040451G>A	(Likely) pathogenic	1 lab	47d0536a41
12:623812 MISSING Ref too long to show for this DEL>G	12	623812	739487	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.623814_739487del	VUS	1 lab	47d5235ff6
10:3816285 KLF6 Ref too long to show for this DEL>A	10	3816285	3830427	Ref too long to show for this DEL	A	KLF6				NC_000010.10:g.3816286_3830427del	VUS	1 lab	47d96fbc7f
9:12704526 TYRP1 G>C	9	12704526	12704526	G	C	TYRP1	c.1082G>C	NM_000550.3	NP_000541.1:p.(Gly361Ala)	NC_000009.11:g.12704526G>C	VUS	1 lab	47d972971a
19:11224233 LDLR G>T	19	11224233	11224233	G	T	LDLR	c.1381G>T	NM_000527.5	NP_000518.1:p.(Gly461Cys)	NC_000019.9:g.11224233G>T	(Likely) pathogenic	1 lab	47da00dcf4
3:10102569 MISSING C>Alt too long to show for this DUP	3	10102569	10236010	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.10102570_10236010dup	VUS	1 lab	47dec38c4a
1:182829122 DHX9 A>G	1	182829122	182829122	A	G	DHX9	c.1141-6A>G	NM_001357.5	NP_001348.2:p.?	NC_000001.10:g.182829122A>G	(Likely) pathogenic	1 lab	47df3f4de7
6:137219289 PEX7 C>T	6	137219289	137219289	C	T	PEX7	c.813C>T	NM_000288.4	NP_000279.1:p.(Asn271=)	NC_000006.11:g.137219289C>T	(Likely) benign	1 lab	47e0012f2f
21:44479030 CBS G>A	21	44479030	44479030	G	A	CBS	c.1272C>T	NM_000071.3	NP_000062.1:p.(Thr424=)	NC_000021.8:g.44479030G>A	(Likely) benign	1 lab	47e0f094c4
9:107586862 ABCA1 G>A	9	107586862	107586862	G	A	ABCA1	c.2543-3C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107586862G>A	(Likely) benign	1 lab	47e1d04955
3:170216486 SLC7A14 C>T	3	170216486	170216486	C	T	SLC7A14	c.729G>A	NM_020949.3	NP_066000.2:p.(Glu243=)	NC_000003.11:g.170216486C>T	(Likely) benign	1 lab	47e2c472e4
17:69070596 MISSING Ref too long to show for this DEL>T	17	69070596	69132099	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.69070597_69132099del	VUS	1 lab	47e620847e
5:125887768 ALDH7A1 G>A	5	125887768	125887768	G	A	ALDH7A1	c.1262C>T	NM_001182.5	NP_001173.2:p.(Ala421Val)	NC_000005.9:g.125887768G>A	VUS	1 lab	47e7ef1077
9:137623243 COL5A1 C>T	9	137623243	137623243	C	T	COL5A1	c.1165-99C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623243C>T	(Likely) benign	1 lab	47e80f075c
1:75049253 ERICH3 Ref too long to show for this DEL>A	1	75049253	75060313	Ref too long to show for this DEL	A	ERICH3	c.1727-4549_2176+6061del	NM_001002912.5	NP_001002912.4:p.?	NC_000001.10:g.75049254_75060313del	VUS	1 lab	47e8d5532f
16:31202698 FUS AT>A	16	31202698	31202715	AT	A	FUS	c.1542-5del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31202715del	(Likely) benign	1 lab	47ee2a4809
7:128483722 FLNC C>T	7	128483722	128483722	C	T	FLNC	c.2811+91C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483722C>T	(Likely) benign	1 lab	47ee68ca18
12:50503082 GPD1 A>G	12	50503082	50503082	A	G	GPD1	c.954-124A>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503082A>G	(Likely) benign	1 lab	47f08466de
4:6302771 WFS1 T>G	4	6302771	6302771	T	G	WFS1	c.1249T>G	NM_006005.3	NP_005996.2:p.(Phe417Val)	NC_000004.11:g.6302771T>G	VUS	1 lab	47f272368c
17:58111093 MISSING Ref too long to show for this DEL>C	17	58111093	60325222	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.58111095_60325222del	(Likely) pathogenic	1 lab	47f56580d2
9:79820269 VPS13A T>C	9	79820269	79820269	T	C	VPS13A	c.228T>C	NM_033305.3	NP_150648.2:p.(Thr76=)	NC_000009.11:g.79820269T>C	(Likely) benign	1 lab	47f6619ddf
3:98545723 MISSING Ref too long to show for this DEL>A	3	98545723	98623227	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.98545724_98623227del	VUS	1 lab	47f91c27d6
2:1843125 MYT1L C>T	2	1843125	1843125	C	T	MYT1L	c.2870G>A	NM_015025.4	NP_055840.2:p.(Cys957Tyr)	NC_000002.11:g.1843125C>T	(Likely) pathogenic	1 lab	47f98d0357
22:50897935 SBF1 C>T	22	50897935	50897935	C	T	SBF1	c.3652G>A	NM_002972.4	NP_002963.2:p.(Val1218Ile)	NC_000022.10:g.50897935C>T	VUS	1 lab	47f9903f2b
14:23857062 MYH6 C>T	14	23857062	23857062	C	T	MYH6	c.4430G>A	NM_002471.4	NP_002462.2:p.(Arg1477His)	NC_000014.8:g.23857062C>T	VUS	1 lab	47fe360435
9:111663805 ELP1 C>T	9	111663805	111663805	C	T	ELP1	c.1914G>A	NM_003640.5	NP_003631.2:p.(Ala638=)	NC_000009.11:g.111663805C>T	(Likely) benign	1 lab	47fea01527
20:42744731 JPH2 C>G	20	42744731	42744731	C	G	JPH2	c.1584G>C	NM_020433.5	NP_065166.2:p.(Glu528Asp)	NC_000020.10:g.42744731C>G	VUS	1 lab	47ffbc2d52
15:45445692 DUOX1 ATGTGTG>A	15	45445692	45445745	ATGTGTG	A	DUOX1	c.3524+63_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445740_45445745del	(Likely) benign	1 lab	480003c14f
15:63362052 TPM1 C>T	15	63362052	63362052	C	T	TPM1	c.665-17C>T	NM_001018008.2	NP_001018008.1:p.?	NC_000015.9:g.63362052C>T	(Likely) benign	1 lab	4802725251
11:47367069 MYBPC3 C>T	11	47367069	47367069	C	T	MYBPC3	c.1090+689G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367069C>T	(Likely) benign	1 lab	4802fc806e
17:9124470 NTN1 C>T	17	9124470	9124470	C	T	NTN1	c.1412-15C>T	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124470C>T	(Likely) benign	1 lab	480337e6fb
10:68479017 CTNNA3 Ref too long to show for this DEL>T	10	68479017	68615433	Ref too long to show for this DEL	T	CTNNA3	c.1048-80150_1281+47004del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68479019_68615433del	VUS	1 lab	48047521ef
6:75823412 COL12A1 T>A	6	75823412	75823412	T	A	COL12A1	c.7746A>T	NM_004370.6	NP_004361.3:p.(Leu2582Phe)	NC_000006.11:g.75823412T>A	VUS	1 lab	4808090e6b
2:179422956 TTN G>C	2	179422956	179422956	G	C	TTN	c.87125C>G	NM_001267550.2	NP_001254479.2:p.(Pro29042Arg)	NC_000002.11:g.179422956G>C	VUS	1 lab	480d44315b
13:114434220 GRK1 C>G	13	114434220	114434220	C	G	GRK1	c.1098C>G	NM_002929.3	NP_002920.1:p.(Gly366=)	NC_000013.10:g.114434220C>G	(Likely) benign	1 lab	481135cbfe
2:176981827 HOXD10 G>A	2	176981827	176981827	G	A	HOXD10	c.266G>A	NM_002148.4	NP_002139.2:p.(Arg89Gln)	NC_000002.11:g.176981827G>A	(Likely) benign	1 lab	4814420695
5:13799719 MISSING A>Alt too long to show for this DUP	5	13799719	14186638	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.13799723_14186638dup	VUS	1 lab	482979ec36
19:38990457 RYR1 G>A	19	38990457	38990457	G	A	RYR1	c.7210G>A	NM_000540.3	NP_000531.2:p.(Glu2404Lys)	NC_000019.9:g.38990457G>A	VUS	1 lab	4817d0f7ea
1:40153316 MISSING C>Alt too long to show for this DUP	1	40153316	40238150	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.40153317_40238150dup	VUS	1 lab	4818ca2f1f
19:45864887 ERCC2 G>A	19	45864887	45864887	G	A	ERCC2	c.1132C>T	NM_000400.4	NP_000391.1:p.(Arg378Cys)	NC_000019.9:g.45864887G>A	(Likely) pathogenic	1 lab	4819e8e025
10:94405364 KIF11 A>C	10	94405364	94405364	A	C	KIF11	c.2512A>C	NM_004523.4	NP_004514.2:p.(Asn838His)	NC_000010.10:g.94405364A>C	(Likely) benign	1 lab	481c7f3f73
12:88486610 CEP290 C>T	12	88486610	88486610	C	T	CEP290	c.3310-1G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88486610C>T	(Likely) pathogenic	1 lab	481db4de72
2:189904094 COL5A2 T>C	2	189904094	189904094	T	C	COL5A2	c.3829A>G	NM_000393.5	NP_000384.2:p.(Ser1277Gly)	NC_000002.11:g.189904094T>C	VUS	1 lab	4820b438d2
7:103234329 RELN T>G	7	103234329	103234329	T	G	RELN	c.3712A>C	NM_005045.4	NP_005036.2:p.(Asn1238His)	NC_000007.13:g.103234329T>G	(Likely) benign	1 lab	4826df55cb
4:114732526 MISSING Ref too long to show for this DEL>A	4	114732526	114821843	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.114732529_114821843del	VUS	1 lab	48284241c1
1:25880465 LDLRAP1 G>A	1	25880465	25880465	G	A	LDLRAP1	c.141G>A	NM_015627.3	NP_056442.2:p.(Leu47=)	NC_000001.10:g.25880465G>A	(Likely) benign	1 lab	482b93afdb
2:110375737 MISSING T>Alt too long to show for this DUP	2	110375737	110524459	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.110375739_110524459dup	VUS	1 lab	4834ab541f
5:127686655 FBN2 C>T	5	127686655	127686655	C	T	FBN2	c.2717G>A	NM_001999.4	NP_001990.2:p.(Arg906His)	NC_000005.9:g.127686655C>T	VUS	1 lab	48373977bc
11:31811460 ELP4 CTTT>C	11	31811460	31811483	CTTT	C	ELP4	c.*6504_*6506del	NM_001288726.2	NP_001275655.1:p.?	NC_000011.9:g.31811481_31811483del	(Likely) benign	1 lab	48388a076c
15:34820229 GOLGA8B G>A	15	34820229	34820229	G	A	GOLGA8B	c.1503C>T	NM_001023567.5	NP_001018861.3:p.(Tyr501=)	NC_000015.9:g.34820229G>A	(Likely) benign	1 lab	48394dd2a0
2:44543433 MISSING A>Alt too long to show for this DUP	2	44543433	44604016	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.44543434_44604016dup	VUS	1 lab	483c7419a0
19:9270927 ZNF317 G>A	19	9270927	9270927	G	A	ZNF317	c.606G>A	NM_020933.5	NP_065984.3:p.(Ala202=)	NC_000019.9:g.9270927G>A	(Likely) benign	1 lab	483d44e9a3
8:144295595 GPIHBP1 A>G	8	144295595	144295595	A	G	GPIHBP1	c.53-102A>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295595A>G	(Likely) benign	1 lab	483ddf6850
12:50497870 GPD1 A>G	12	50497870	50497870	A	G	GPD1	c.37A>G	NM_005276.4	NP_005267.2:p.(Asn13Asp)	NC_000012.11:g.50497870A>G	VUS	1 lab	483e3ea2f1
1:55529122 PCSK9 C>T	1	55529122	55529122	C	T	PCSK9	c.1944C>T	NM_174936.4	NP_777596.2:p.(Tyr648=)	NC_000001.10:g.55529122C>T	(Likely) benign	1 lab	48406573b2
8:145583707 SLC52A2 C>T	8	145583707	145583707	C	T	SLC52A2	c.555C>T	NM_024531.5	NP_078807.1:p.(Leu185=)	NC_000008.10:g.145583707C>T	(Likely) benign	1 lab	48407659ee
3:151067936 MED12L G>T	3	151067936	151067936	G	T	MED12L	c.2235G>T	NM_053002.5	NP_443728.3:p.(Lys745Asn)	NC_000003.11:g.151067936G>T	VUS	1 lab	4840d13f61
2:167141056 SCN9A C>T	2	167141056	167141056	C	T	SCN9A	c.1881G>A	NM_002977.3	NP_002968.1:p.(Val627=)	NC_000002.11:g.167141056C>T	(Likely) benign	1 lab	48422ba4c3
2:179411891 TTN A>G	2	179411891	179411891	A	G	TTN	c.94361T>C	NM_001267550.2	NP_001254479.2:p.(Leu31454Pro)	NC_000002.11:g.179411891A>G	VUS	1 lab	48468844f0
10:68381525 CTNNA3 A>C	10	68381525	68381525	A	C	CTNNA3	c.1299T>G	NM_013266.4	NP_037398.2:p.(Cys433Trp)	NC_000010.10:g.68381525A>C	VUS	1 lab	4848c7d575
9:107646776 ABCA1 G>A	9	107646776	107646776	G	A	ABCA1	c.234C>T	NM_005502.4	NP_005493.2:p.(Asn78=)	NC_000009.11:g.107646776G>A	(Likely) benign	1 lab	484ccc0be2
11:95578280 MTMR2 G>A	11	95578280	95578280	G	A	MTMR2	c.1007C>T	NM_001243571.2	NP_001230500.1:p.(Ser336Leu)	NC_000011.9:g.95578280G>A	VUS	1 lab	484f622eb0
7:87642900 ADAM22 Ref too long to show for this DEL>T	7	87642900	87745939	Ref too long to show for this DEL	T	ADAM22	c.323+35174_538-121del	NM_001324418.2	NP_001311347.1:p.?	NC_000007.13:g.87642901_87745939del	VUS	1 lab	485546b62d
12:32552774 FGD4 G>A	12	32552774	32552774	G	A	FGD4	c.47G>A	NM_001370298.3	NP_001357227.2:p.(Arg16Gln)	NC_000012.11:g.32552774G>A	(Likely) benign	1 lab	4856a8e698
10:112581400 RBM20 G>A	10	112581400	112581400	G	A	RBM20	c.3023G>A	NM_001134363.3	NP_001127835.2:p.(Arg1008Gln)	NC_000010.10:g.112581400G>A	(Likely) benign	1 lab	4857f835a2
19:50334081 MED25 G>T	19	50334081	50334081	G	T	MED25	c.1038G>T	NM_030973.4	NP_112235.2:p.(Leu346=)	NC_000019.9:g.50334081G>T	(Likely) benign	1 lab	485b36454d
7:138525007 KIAA1549 G>A	7	138525007	138525007	G	A	KIAA1549	c.5469C>T	NM_001164665.2	NP_001158137.1:p.(His1823=)	NC_000007.13:g.138525007G>A	(Likely) benign	1 lab	485b388373
1:20412643 PLA2G5 C>T	1	20412643	20412643	C	T	PLA2G5	c.108C>T	NM_000929.3	NP_000920.1:p.(Asn36=)	NC_000001.10:g.20412643C>T	(Likely) benign	1 lab	486046891a
15:34567569 SLC12A6 G>T	15	34567569	34567569	G	T	SLC12A6	c.293C>A	NM_001365088.1	NP_001352017.1:p.(Thr98Lys)	NC_000015.9:g.34567569G>T	VUS	1 lab	4863243ae4
1:155527409 MISSING A>Alt too long to show for this DUP	1	155527409	155782117	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.155527410_155782117dup	VUS	1 lab	4863583509
3:193360794 OPA1 C>A	3	193360794	193360794	C	A	OPA1	c.1261C>A	NM_130837.3	NP_570850.2:p.(Arg421=)	NC_000003.11:g.193360794C>A	(Likely) benign	1 lab	48670a0b6f
10:95394595 PDE6C GGGAGTGGCTA>G	10	95394595	95394605	GGGAGTGGCTA	G	PDE6C	c.1201_1210del	NM_006204.4	NP_006195.3:p.(Gly401HisfsTer31)	NC_000010.10:g.95394596_95394605del	(Likely) pathogenic	1 lab	486b11bfaa
7:150649761 KCNH2 C>A	7	150649761	150649761	C	A	KCNH2	c.1309G>T	NM_000238.4	NP_000229.1:p.(Glu437Ter)	NC_000007.13:g.150649761C>A	(Likely) pathogenic	1 lab	486c150851
9:21974451 CDKN2A GAGAGATCTGTAC>TCA	9	21974451	21974463	GAGAGATCTGTAC	TCA	CDKN2A	c.150+214_150+226delinsTGA	NM_000077.5	NP_000068.1:p.?	NC_000009.11:g.21974451_21974463delinsTCA	(Likely) benign	1 lab	486dfd4658
18:45374648 SMAD2 GTTGAAGAGT>G	18	45374648	45374660	GTTGAAGAGT	G	SMAD2	c.997+189_997+197del	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45374652_45374660del	(Likely) benign	1 lab	4871701b60
8:24239204 MISSING T>Alt too long to show for this DUP	8	24239204	24440884	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.24239206_24440884dup	VUS	1 lab	48742bf11a
7:21908610 DNAH11 G>T	7	21908610	21908610	G	T	DNAH11	c.11967+1G>T	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21908610G>T	(Likely) pathogenic	1 lab	4875680648
15:50355148 ATP8B4 C>Alt too long to show for this DUP	15	50355148	50405175	C	Alt too long to show for this DUP	ATP8B4	c.-42-5970_87+11175dup	NM_024837.4	NP_079113.2:p.?	NC_000015.9:g.50355149_50405175dup	VUS	1 lab	487648d0fa
1:19570466 EMC1 A>G	1	19570466	19570466	A	G	EMC1	c.264T>C	NM_001375820.1	NP_001362749.1:p.(Asp88=)	NC_000001.10:g.19570466A>G	(Likely) benign	1 lab	4877056700
3:11076284 SLC6A1 G>A	3	11076284	11076284	G	A	SLC6A1	c.1595G>A	NM_003042.4	NP_003033.3:p.(Trp532Ter)	NC_000003.11:g.11076284G>A	(Likely) pathogenic	1 lab	48799b0d01
9:138642785 KCNT1 C>G	9	138642785	138642785	C	G	KCNT1	c.191-3C>G	NM_001272003.2	NP_001258932.1:p.?	NC_000009.11:g.138642785C>G	VUS	1 lab	488065650e
7:128496664 FLNC G>A	7	128496664	128496664	G	A	FLNC	c.7344G>A	NM_001458.5	NP_001449.3:p.(Ser2448=)	NC_000007.13:g.128496664G>A	(Likely) benign	1 lab	48867015ff
9:137697036 COL5A1 G>GCC	9	137697036	137697041	G	GCC	COL5A1	c.3238_3239dup	NM_000093.5	NP_000084.3:p.(Gly1081LeufsTer196)	NC_000009.11:g.137697040_137697041dup	(Likely) pathogenic	1 lab	4886c48abb
8:19805558 LPL A>G	8	19805558	19805558	A	G	LPL	c.89-133A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805558A>G	(Likely) benign	1 lab	4886fb6f81
7:150648711 KCNH2 G>A	7	150648711	150648711	G	A	KCNH2	c.1770C>T	NM_000238.4	NP_000229.1:p.(Gly590=)	NC_000007.13:g.150648711G>A	(Likely) benign	1 lab	4887d4d6bf
11:47358072 MYBPC3 T>C	11	47358072	47358072	T	C	MYBPC3	c.2603-510A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358072T>C	(Likely) benign	1 lab	488a7374e0
19:11226601 LDLR CAAA>C	19	11226601	11226619	CAAA	C	LDLR	c.1587-153_1587-151del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226617_11226619del	(Likely) benign	1 lab	4892a0c9d2
17:10541741 MYH3 A>G	17	10541741	10541741	A	G	MYH3	c.3348T>C	NM_002470.4	NP_002461.2:p.(Ile1116=)	NC_000017.10:g.10541741A>G	(Likely) benign	1 lab	4894fdb91e
10:88476324 LDB3 T>A	10	88476324	88476324	T	A	LDB3	c.1487T>A	NM_001171610.2	NP_001165081.1:p.(Val496Glu)	NC_000010.10:g.88476324T>A	VUS	1 lab	48950489c3
8:96259948 CFAP418 T>C	8	96259948	96259948	T	C	CFAP418	c.521A>G	NM_177965.4	NP_808880.1:p.(Lys174Arg)	NC_000008.10:g.96259948T>C	VUS	1 lab	4896e4535d
9:133346910 ASS1 C>T	9	133346910	133346910	C	T	ASS1	c.597+8C>T	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133346910C>T	(Likely) benign	1 lab	489a5d83b4
2:179411183 TTN A>G	2	179411183	179411183	A	G	TTN	c.94875T>C	NM_001267550.2	NP_001254479.2:p.(Val31625=)	NC_000002.11:g.179411183A>G	(Likely) benign	1 lab	489c1f18e3
2:216190719 ATIC C>T	2	216190719	216190719	C	T	ATIC	c.389C>T	NM_004044.7	NP_004035.2:p.(Thr130Ile)	NC_000002.11:g.216190719C>T	VUS	1 lab	489fb1d817
7:42262781 GLI3 G>A	7	42262781	42262781	G	A	GLI3	c.72C>T	NM_000168.6	NP_000159.3:p.(Ser24=)	NC_000007.13:g.42262781G>A	(Likely) benign	1 lab	48a0750e16
8:110100365 TRHR C>T	8	110100365	110100365	C	T	TRHR	c.624C>T	NM_003301.7	NP_003292.1:p.(Thr208=)	NC_000008.10:g.110100365C>T	(Likely) benign	1 lab	48a0837629
4:55928378 MISSING Ref too long to show for this DEL>C	4	55928378	55960659	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.55928379_55960659del	VUS	1 lab	48a1a09f77
15:72109968 NR2E3 C>T	15	72109968	72109968	C	T	NR2E3	c.1176C>T	NM_014249.4	NP_055064.1:p.(Arg392=)	NC_000015.9:g.72109968C>T	(Likely) benign	1 lab	48a50a731d
2:219677680 CYP27A1 T>C	2	219677680	219677680	T	C	CYP27A1	c.878T>C	NM_000784.4	NP_000775.1:p.(Met293Thr)	NC_000002.11:g.219677680T>C	VUS	1 lab	48a76588db
X:21985432 SMS C>T	X	21985432	21985432	C	T	SMS	c.168C>T	NM_004595.5	NP_004586.2:p.(Gly56=)	NC_000023.10:g.21985432C>T	(Likely) pathogenic	1 lab	48a79fbcdc
12:50503191 GPD1 C>T	12	50503191	50503191	C	T	GPD1	c.954-15C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503191C>T	(Likely) benign	1 lab	48acde40e4
5:127627198 FBN2 A>C	5	127627198	127627198	A	C	FBN2	c.6292+23T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127627198A>C	(Likely) benign	1 lab	48af8e3253
3:37083885 MLH1 C>A	3	37083885	37083885	C	A	MLH1	c.1731+63C>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37083885C>A	(Likely) benign	1 lab	48b3dced30
20:42788892 JPH2 A>C	20	42788892	42788892	A	C	JPH2	c.535T>G	NM_020433.5	NP_065166.2:p.(Ser179Ala)	NC_000020.10:g.42788892A>C	VUS	1 lab	48b4032436
11:24563721 MISSING Ref too long to show for this DEL>G	11	24563721	26048690	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.24563723_26048690del	VUS	1 lab	48b5d7fafd
10:27687759 PTCHD3 CT>C	10	27687759	27687760	CT	C	PTCHD3	c.1767del	NM_001034842.4	NP_001030014.2:p.(Asp590ThrfsTer16)	NC_000010.10:g.27687760del	(Likely) benign	1 lab	48b8b9aaed
19:45412339 APOE G>A	19	45412339	45412339	G	A	APOE	c.864G>A	NM_001302688.2	NP_001289617.1:p.(Glu288=)	NC_000019.9:g.45412339G>A	(Likely) benign	1 lab	48be6b7573
5:172660033 NKX2-5 C>T	5	172660033	172660033	C	T	NKX2-5	c.514G>A	NM_004387.4	NP_004378.1:p.(Ala172Thr)	NC_000005.9:g.172660033C>T	VUS	1 lab	48bff6ad85
6:7569500 DSP G>A	6	7569500	7569500	G	A	DSP	c.1501G>A	NM_004415.4	NP_004406.2:p.(Val501Ile)	NC_000006.11:g.7569500G>A	VUS	1 lab	48c23f5f21
1:161277188 MPZ C>A	1	161277188	161277188	C	A	MPZ	c.94G>T	NM_000530.8	NP_000521.2:p.(Val32Phe)	NC_000001.10:g.161277188C>A	(Likely) pathogenic	1 lab	48c32e1637
11:108098445 ATM A>G	11	108098445	108098445	A	G	ATM	c.72+22A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098445A>G	(Likely) benign	1 lab	48c52d6372
14:23886173 MYH7 C>T	14	23886173	23886173	C	T	MYH7	c.4548G>A	NM_000257.4	NP_000248.2:p.(Leu1516=)	NC_000014.8:g.23886173C>T	(Likely) benign	1 lab	48c7696599
2:179454154 TTN T>C	2	179454154	179454154	T	C	TTN	c.62298A>G	NM_001267550.2	NP_001254479.2:p.(Leu20766=)	NC_000002.11:g.179454154T>C	(Likely) benign	1 lab	48c86745a2
2:179477176 TTN GTC>G	2	179477176	179477183	GTC	G	TTN	c.50074_50075del	NM_001267550.2	NP_001254479.2:p.(Asp16692ArgfsTer25)	NC_000002.11:g.179477182_179477183del	(Likely) pathogenic	1 lab	48c9d2acb0
15:48757802 FBN1 G>A	15	48757802	48757802	G	A	FBN1	c.4905C>T	NM_000138.5	NP_000129.3:p.(Thr1635=)	NC_000015.9:g.48757802G>A	(Likely) benign	1 lab	48ccb35203
2:215645922 BARD1 C>G	2	215645922	215645922	C	G	BARD1	c.676G>C	NM_000465.4	NP_000456.2:p.(Asp226His)	NC_000002.11:g.215645922C>G	VUS	1 lab	48ce31fcd8
9:101606425 GALNT12 C>G	9	101606425	101606425	C	G	GALNT12	c.1392C>G	NM_024642.5	NP_078918.3:p.(Pro464=)	NC_000009.11:g.101606425C>G	(Likely) benign	1 lab	48cfe32280
X:134945223 MISSING Ref too long to show for this DEL>C	X	134945223	135028397	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.134945224_135028397del	VUS	1 lab	48ec54a0d1
19:11226847 LDLR TG>T	19	11226847	11226849	TG	T	LDLR	c.1666del	NM_000527.5	NP_000518.1:p.(Val556Ter)	NC_000019.9:g.11226849del	(Likely) pathogenic	1 lab	48d06484a7
10:92678870 ANKRD1 C>CA	10	92678870	92678879	C	CA	ANKRD1	c.345+17dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678879dup	(Likely) benign	1 lab	48d80b8af3
14:23876243 MYH6 C>T	14	23876243	23876243	C	T	MYH6	c.190G>A	NM_002471.4	NP_002462.2:p.(Glu64Lys)	NC_000014.8:g.23876243C>T	VUS	1 lab	48d90499d2
15:45404074 DUOX2 A>G	15	45404074	45404074	A	G	DUOX2	c.405T>C	NM_014080.5	NP_054799.4:p.(Pro135=)	NC_000015.9:g.45404074A>G	(Likely) benign	1 lab	48dbf1812f
1:220162103 EPRS1 A>T	1	220162103	220162103	A	T	EPRS1	c.2604T>A	NM_004446.3	NP_004437.2:p.(Thr868=)	NC_000001.10:g.220162103A>T	(Likely) benign	1 lab	48dca8c618
10:3807486 MISSING Ref too long to show for this DEL>A	10	3807486	3829500	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3807487_3829500del	VUS	1 lab	48de6c7314
7:107616323 LAMB1 C>G	7	107616323	107616323	C	G	LAMB1	c.1001-1G>C	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107616323C>G	(Likely) pathogenic	1 lab	48df8f3b93
4:73981589 ANKRD17 CTGAT>C	4	73981589	73981596	CTGAT	C	ANKRD17	c.4229_4232del	NM_032217.5	NP_115593.3:p.(Asn1410SerfsTer9)	NC_000004.11:g.73981593_73981596del	(Likely) pathogenic	1 lab	48e389c22b
2:44041640 ABCG5 A>G	2	44041640	44041640	A	G	ABCG5	c.1738T>C	NM_022436.3	NP_071881.1:p.(Phe580Leu)	NC_000002.11:g.44041640A>G	VUS	1 lab	48e4f7f778
17:47571590 MISSING T>Alt too long to show for this DUP	17	47571590	47659418	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.47571592_47659418dup	VUS	1 lab	48ee362d61
8:133910502 TG A>C	8	133910502	133910502	A	C	TG	c.3217+11A>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133910502A>C	(Likely) benign	1 lab	494aeaa0a8
1:27876252 AHDC1 CCA>C	1	27876252	27876256	CCA	C	AHDC1	c.2373_2374del	NM_001029882.3	NP_001025053.1:p.(Cys791TrpfsTer57)	NC_000001.10:g.27876255_27876256del	(Likely) pathogenic	1 lab	48f85c3fd3
2:21234764 APOB T>C	2	21234764	21234764	T	C	APOB	c.4976A>G	NM_000384.3	NP_000375.3:p.(Asn1659Ser)	NC_000002.11:g.21234764T>C	VUS	1 lab	48f93282a2
14:57271079 OTX2 G>A	14	57271079	57271079	G	A	OTX2	c.100C>T	NM_021728.4	NP_068374.1:p.(Pro34Ser)	NC_000014.8:g.57271079G>A	VUS	1 lab	48fdbaea86
19:11224290 LDLR G>A	19	11224290	11224290	G	A	LDLR	c.1438G>A	NM_000527.5	NP_000518.1:p.(Ala480Thr)	NC_000019.9:g.11224290G>A	(Likely) pathogenic	1 lab	49004be2d7
19:49671580 TRPM4 G>A	19	49671580	49671580	G	A	TRPM4	c.512G>A	NM_017636.4	NP_060106.2:p.(Arg171Gln)	NC_000019.9:g.49671580G>A	VUS	1 lab	490f573368
10:91007598 LIPA T>TTTTATTTA	10	91007598	91007606	T	TTTTATTTA	LIPA	c.-1-193_-1-192insTAAATAAA	NM_001127605.3	NP_001121077.1:p.?	NC_000010.10:g.91007605_91007606insATTTATTT	(Likely) benign	1 lab	491201ede6
6:32038098 TNXB G>A	6	32038098	32038098	G	A	TNXB	c.5084C>T	NM_019105.8	NP_061978.6:p.(Thr1695Met)	NC_000006.11:g.32038098G>A	(Likely) benign	1 lab	4913d9c879
17:48266126 COL1A1 G>A	17	48266126	48266126	G	A	COL1A1	c.3076C>T	NM_000088.4	NP_000079.2:p.(Arg1026Ter)	NC_000017.10:g.48266126G>A	(Likely) pathogenic	1 lab	4918c6245c
20:54824267 MC3R T>G	20	54824267	54824267	T	G	MC3R	c.368T>G	NM_019888.3	NP_063941.3:p.(Met123Arg)	NC_000020.10:g.54824267T>G	VUS	1 lab	491ba6d312
15:48826421 FBN1 CAG>C	15	48826421	48826428	CAG	C	FBN1	c.737-21_737-20del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826427_48826428del	(Likely) benign	1 lab	4920868d34
2:233655513 GIGYF2 C>T	2	233655513	233655513	C	T	GIGYF2	c.884C>T	NM_001103147.2	NP_001096617.1:p.(Ser295Phe)	NC_000002.11:g.233655513C>T	(Likely) benign	1 lab	4923da88bc
2:62066588 FAM161A C>T	2	62066588	62066588	C	T	FAM161A	c.1551G>A	NM_001201543.2	NP_001188472.1:p.(Thr517=)	NC_000002.11:g.62066588C>T	(Likely) benign	1 lab	4924219731
5:138260418 CTNNA1 T>G	5	138260418	138260418	T	G	CTNNA1	c.1747+19T>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138260418T>G	(Likely) benign	1 lab	4927ba7270
14:76156538 TTLL5 T>A	14	76156538	76156538	T	A	TTLL5	c.375T>A	NM_015072.5	NP_055887.3:p.(Ser125=)	NC_000014.8:g.76156538T>A	(Likely) benign	1 lab	492bdc2782
1:227078995 PSEN2 G>T	1	227078995	227078995	G	T	PSEN2	c.903G>T	NM_000447.3	NP_000438.2:p.(Thr301=)	NC_000001.10:g.227078995G>T	(Likely) benign	1 lab	492fb045f0
11:40322505 LRRC4C Ref too long to show for this DEL>A	11	40322505	40669693	Ref too long to show for this DEL	A	LRRC4C	c.-271_-176+18672del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40322506_40669693del	VUS	1 lab	49395434d6
10:17164789 CUBN G>T	10	17164789	17164789	G	T	CUBN	c.593+5C>A	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17164789G>T	(Likely) benign	1 lab	493b69858f
2:44101552 ABCG8 C>A	2	44101552	44101552	C	A	ABCG8	c.1418C>A	NM_022437.3	NP_071882.1:p.(Ser473Ter)	NC_000002.11:g.44101552C>A	(Likely) pathogenic	1 lab	493bf4f305
14:89319359 TTC8 G>A	14	89319359	89319359	G	A	TTC8	c.639G>A	NM_001366535.2	NP_001353464.1:p.(Lys213=)	NC_000014.8:g.89319359G>A	(Likely) benign	1 lab	493cbba668
19:11240284 LDLR C>T	19	11240284	11240284	C	T	LDLR	c.2485C>T	NM_000527.5	NP_000518.1:p.(Gln829Ter)	NC_000019.9:g.11240284C>T	(Likely) pathogenic	1 lab	493fa6fc46
16:56540120 BBS2 CAA>C	16	56540120	56540123	CAA	C	BBS2	c.627_628del	NM_031885.5	NP_114091.4:p.(Cys210SerfsTer20)	NC_000016.9:g.56540122_56540123del	(Likely) pathogenic	1 lab	4948898367
5:178559249 ADAMTS2 C>T	5	178559249	178559249	C	T	ADAMTS2	c.2272G>A	NM_014244.5	NP_055059.2:p.(Ala758Thr)	NC_000005.9:g.178559249C>T	(Likely) benign	1 lab	4948d3d2e5
2:179469738 TTN G>C	2	179469738	179469738	G	C	TTN	c.54166C>G	NM_001267550.2	NP_001254479.2:p.(Arg18056Gly)	NC_000002.11:g.179469738G>C	VUS	1 lab	494a8bf7ba
10:88492667 LDB3 G>A	10	88492667	88492667	G	A	LDB3	c.2133G>A	NM_001171610.2	NP_001165081.1:p.(Gly711=)	NC_000010.10:g.88492667G>A	(Likely) benign	1 lab	494ae7df15
11:47366244 MYBPC3 C>T	11	47366244	47366244	C	T	MYBPC3	c.1091-1069G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366244C>T	(Likely) benign	1 lab	494c584cc9
5:148417939 SH3TC2 C>T	5	148417939	148417939	C	T	SH3TC2	c.920G>A	NM_024577.4	NP_078853.2:p.(Trp307Ter)	NC_000005.9:g.148417939C>T	(Likely) pathogenic	1 lab	494ce97f50
21:47700071 MCM3AP A>G	21	47700071	47700071	A	G	MCM3AP	c.1523-20T>C	NM_003906.5	NP_003897.2:p.?	NC_000021.8:g.47700071A>G	(Likely) benign	1 lab	494d45965b
15:34537511 SLC12A6 C>T	15	34537511	34537511	C	T	SLC12A6	c.1918G>A	NM_001365088.1	NP_001352017.1:p.(Asp640Asn)	NC_000015.9:g.34537511C>T	VUS	1 lab	494e593932
2:220502407 SLC4A3 C>T	2	220502407	220502407	C	T	SLC4A3	c.2721C>T	NM_001326559.2	NP_001313488.2:p.(Thr907=)	NC_000002.11:g.220502407C>T	(Likely) benign	1 lab	494f73a6ad
2:21229824 APOB C>T	2	21229824	21229824	C	T	APOB	c.9916G>A	NM_000384.3	NP_000375.3:p.(Val3306Ile)	NC_000002.11:g.21229824C>T	VUS	1 lab	495171f404
19:45411858 APOE C>T	19	45411858	45411858	C	T	APOE	c.383C>T	NM_001302688.2	NP_001289617.1:p.(Pro128Leu)	NC_000019.9:g.45411858C>T	VUS	1 lab	49529df5ba
22:26937219 TPST2 C>T	22	26937219	26937219	C	T	TPST2	c.540G>A	NM_001362923.2	NP_001349852.1:p.(Ala180=)	NC_000022.10:g.26937219C>T	(Likely) benign	1 lab	4958baf812
6:35467912 TULP1 C>T	6	35467912	35467912	C	T	TULP1	c.1341G>A	NM_003322.6	NP_003313.3:p.(Leu447=)	NC_000006.11:g.35467912C>T	(Likely) benign	1 lab	495a4267bd
2:179405995 TTN C>A	2	179405995	179405995	C	A	TTN	c.97795+14G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179405995C>A	(Likely) benign	1 lab	495cb0c0dd
5:127854811 FBN2 A>T	5	127854811	127854811	A	T	FBN2	c.628+155T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127854811A>T	(Likely) benign	1 lab	495e15ef72
22:49096666 TAFA5 Ref too long to show for this DEL>G	22	49096666	49104817	Ref too long to show for this DEL	G	TAFA5	c.263-6859_390+1161del	NM_001082967.3	NP_001076436.1:p.?	NC_000022.10:g.49096670_49104817del	VUS	1 lab	495e5348f0
2:219647105 CYP27A1 GCTT>G	2	219647105	219647114	GCTT	G	CYP27A1	c.207_209del	NM_000784.4	NP_000775.1:p.(Phe70del)	NC_000002.11:g.219647112_219647114del	VUS	1 lab	49612770be
12:40902858 MUC19 G>A	12	40902858	40902858	G	A	MUC19	c.20001G>A	NM_173600.2	NP_775871.2:p.(Gly6667=)	NC_000012.11:g.40902858G>A	(Likely) benign	1 lab	49657aa345
18:10855551 PIEZO2 C>T	18	10855551	10855551	C	T	PIEZO2	c.717G>A	NM_022068.4	NP_071351.2:p.(Pro239=)	NC_000018.9:g.10855551C>T	(Likely) benign	1 lab	4965cd5d21
15:48807929 FBN1 A>C	15	48807929	48807929	A	C	FBN1	c.1328-205T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48807929A>C	(Likely) benign	1 lab	4966abfbdb
14:35476574 SRP54 AAAC>A	14	35476574	35476584	AAAC	A	SRP54	c.349_351del	NM_003136.4	NP_003127.1:p.(Thr117del)	NC_000014.8:g.35476582_35476584del	(Likely) pathogenic	1 lab	496c8e22c6
3:38618224 SCN5A TG>T	3	38618224	38618225	TG	T	SCN5A	c.3438del	NM_198056.3	NP_932173.1:p.(Asn1146LysfsTer69)	NC_000003.11:g.38618225del	(Likely) pathogenic	1 lab	496f10cf40
11:108119698 ATM A>G	11	108119698	108119698	A	G	ATM	c.1104A>G	NM_000051.4	NP_000042.3:p.(Gln368=)	NC_000011.9:g.108119698A>G	(Likely) benign	1 lab	4975e7270c
11:45935723 PEX16 C>T	11	45935723	45935723	C	T	PEX16	c.726G>A	NM_004813.4	NP_004804.2:p.(Ser242=)	NC_000011.9:g.45935723C>T	(Likely) benign	1 lab	497706c15d
X:9656197 TBL1X T>G	X	9656197	9656197	T	G	TBL1X	c.498T>G	NM_005647.4	NP_005638.1:p.(Ala166=)	NC_000023.10:g.9656197T>G	(Likely) benign	1 lab	49787ba579
16:46766403 MYLK3 G>C	16	46766403	46766403	G	C	MYLK3	c.1179C>G	NM_182493.3	NP_872299.2:p.(Thr393=)	NC_000016.9:g.46766403G>C	(Likely) benign	1 lab	497aec6c11
12:118298112 KSR2 C>A	12	118298112	118298112	C	A	KSR2	c.305G>T	NM_173598.6	NP_775869.4:p.(Arg102Leu)	NC_000012.11:g.118298112C>A	VUS	1 lab	497eea4461
1:236918438 ACTN2 C>A	1	236918438	236918438	C	A	ACTN2	c.1470C>A	NM_001278344.2	NP_001265273.1:p.(Asp490Glu)	NC_000001.10:g.236918438C>A	VUS	1 lab	49842e151c
8:145737271 RECQL4 C>G	8	145737271	145737271	C	G	RECQL4	c.3393+23G>C	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737271C>G	VUS	1 lab	4984743946
11:8060468 TUB C>T	11	8060468	8060468	C	T	TUB	c.48C>T	NM_003320.5	NP_003311.2:p.(Ala16=)	NC_000011.9:g.8060468C>T	(Likely) benign	1 lab	498548747f
1:78392256 NEXN G>A	1	78392256	78392256	G	A	NEXN	c.647G>A	NM_144573.4	NP_653174.3:p.(Arg216Gln)	NC_000001.10:g.78392256G>A	VUS	1 lab	49858c47c0
19:49700105 TRPM4 C>T	19	49700105	49700105	C	T	TRPM4	c.2619C>T	NM_017636.4	NP_060106.2:p.(Thr873=)	NC_000019.9:g.49700105C>T	(Likely) benign	1 lab	498688c052
20:57597970 TUBB1 A>C	20	57597970	57597970	A	C	TUBB1	c.128A>C	NM_030773.4	NP_110400.1:p.(Gln43Pro)	NC_000020.10:g.57597970A>C	(Likely) benign	1 lab	498b6e2712
4:154216974 TRIM2 G>T	4	154216974	154216974	G	T	TRIM2	c.1215G>T	NM_001351056.2	NP_001337985.1:p.(Leu405=)	NC_000004.11:g.154216974G>T	VUS	1 lab	4990a4c9b7
3:53845442 CACNA1D G>A	3	53845442	53845442	G	A	CACNA1D	c.*9G>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53845442G>A	(Likely) benign	1 lab	4991005c96
2:44098606 ABCG8 G>A	2	44098606	44098606	G	A	ABCG8	c.965-509G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44098606G>A	(Likely) benign	1 lab	49912fe476
1:94508299 ABCA4 C>T	1	94508299	94508299	C	T	ABCA4	c.3328+18G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94508299C>T	(Likely) benign	1 lab	4991c90a94
11:116701674 APOC3 T>A	11	116701674	116701674	T	A	APOC3	c.179+62T>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701674T>A	(Likely) benign	1 lab	49942b80f9
14:99640771 BCL11B C>T	14	99640771	99640771	C	T	BCL11B	c.2402G>A	NM_138576.4	NP_612808.1:p.(Cys801Tyr)	NC_000014.8:g.99640771C>T	(Likely) pathogenic	1 lab	499679b747
9:133346226 ASS1 C>T	9	133346226	133346226	C	T	ASS1	c.501C>T	NM_000050.4	NP_000041.2:p.(His167=)	NC_000009.11:g.133346226C>T	(Likely) benign	1 lab	4997a9c043
17:42085136 NAGS T>C	17	42085136	42085136	T	C	NAGS	c.1446T>C	NM_153006.3	NP_694551.1:p.(Asn482=)	NC_000017.10:g.42085136T>C	(Likely) benign	1 lab	4997d595b8
2:47693857 MSH2 G>A	2	47693857	47693857	G	A	MSH2	c.1571G>A	NM_000251.3	NP_000242.1:p.(Arg524His)	NC_000002.11:g.47693857G>A	(Likely) benign	1 lab	499980281f
5:40783892 MISSING A>Alt too long to show for this DUP	5	40783892	40857848	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.40783894_40857848dup	VUS	1 lab	49a1ca4f58
16:16244077 ABCC6 C>T	16	16244077	16244077	C	T	ABCC6	c.4083G>A	NM_001351800.1	NP_001338729.1:p.(Gly1361=)	NC_000016.9:g.16244077C>T	(Likely) benign	1 lab	49a4623e17
2:44066254 ABCG8 C>T	2	44066254	44066254	C	T	ABCG8	c.62C>T	NM_022437.3	NP_071882.1:p.(Ser21Leu)	NC_000002.11:g.44066254C>T	VUS	1 lab	4a2e25bda4
5:180040041 FLT4 A>C	5	180040041	180040041	A	C	FLT4	c.3401T>G	NM_182925.5	NP_891555.2:p.(Met1134Arg)	NC_000005.9:g.180040041A>C	VUS	1 lab	49a52caffe
11:65822645 SF3B2 T>C	11	65822645	65822645	T	C	SF3B2	c.357T>C	NM_006842.3	NP_006833.2:p.(Phe119=)	NC_000011.9:g.65822645T>C	(Likely) benign	1 lab	49a7620888
20:57480545 GNAS C>T	20	57480545	57480545	C	T	GNAS	c.*391+10C>T	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57480545C>T	(Likely) benign	1 lab	49aa05b723
2:44058914 ABCG5 C>A	2	44058914	44058914	C	A	ABCG5	c.495G>T	NM_022436.3	NP_071881.1:p.(Gln165His)	NC_000002.11:g.44058914C>A	(Likely) pathogenic	1 lab	49abf620f1
2:160731890 MISSING A>Alt too long to show for this DUP	2	160731890	160843917	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.160731891_160843917dup	VUS	1 lab	49ac091d4a
15:34129949 RYR3 C>T	15	34129949	34129949	C	T	RYR3	c.11768C>T	NM_001036.6	NP_001027.3:p.(Thr3923Ile)	NC_000015.9:g.34129949C>T	VUS	1 lab	49acfb02e2
2:21251251 APOB C>G	2	21251251	21251251	C	G	APOB	c.1777G>C	NM_000384.3	NP_000375.3:p.(Val593Leu)	NC_000002.11:g.21251251C>G	VUS	1 lab	49ad16593b
X:10491233 MID1 C>CAA	X	10491233	10491249	C	CAA	MID1	c.661-8_661-7dup	NM_001347733.2	NP_001334662.1:p.?	NC_000023.10:g.10491248_10491249dup	(Likely) benign	1 lab	49adca72c0
1:103444666 COL11A1 A>G	1	103444666	103444666	A	G	COL11A1	c.2647-6T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103444666A>G	VUS	1 lab	49b298467d
2:179424871 TTN G>A	2	179424871	179424871	G	A	TTN	c.85988C>T	NM_001267550.2	NP_001254479.2:p.(Ser28663Leu)	NC_000002.11:g.179424871G>A	VUS	1 lab	49b309057d
15:45408785 DUOXA2 T>TA	15	45408785	45408786	T	TA	DUOXA2	c.413dup	NM_207581.4	NP_997464.2:p.(Tyr138Ter)	NC_000015.9:g.45408786dup	(Likely) pathogenic	1 lab	49b5823bf4
5:7891506 MTRR C>G	5	7891506	7891506	C	G	MTRR	c.1349C>G	NM_002454.3	NP_002445.2:p.(Pro450Arg)	NC_000005.9:g.7891506C>G	(Likely) benign	1 lab	49b5fff29d
12:48380193 COL2A1 C>A	12	48380193	48380193	C	A	COL2A1	c.1453G>T	NM_001844.5	NP_001835.3:p.(Ala485Ser)	NC_000012.11:g.48380193C>A	(Likely) benign	1 lab	49b684b947
2:44079515 ABCG8 T>A	2	44079515	44079515	T	A	ABCG8	c.584T>A	NM_022437.3	NP_071882.1:p.(Leu195Gln)	NC_000002.11:g.44079515T>A	VUS	1 lab	49b8750646
16:87903012 SLC7A5 G>A	16	87903012	87903012	G	A	SLC7A5	c.17C>T	NM_003486.7	NP_003477.4:p.(Pro6Leu)	NC_000016.9:g.87903012G>A	(Likely) benign	1 lab	49ba70b9fa
2:179641933 TTN T>A	2	179641933	179641933	T	A	TTN	c.4757A>T	NM_001267550.2	NP_001254479.2:p.(Asp1586Val)	NC_000002.11:g.179641933T>A	VUS	1 lab	49bc1a8879
18:34233325 FHOD3 T>C	18	34233325	34233325	T	C	FHOD3	c.1667T>C	NM_001281740.3	NP_001268669.1:p.(Leu556Ser)	NC_000018.9:g.34233325T>C	VUS	1 lab	49bfce21c5
17:75495840 SEPTIN9 T>C	17	75495840	75495840	T	C	SEPTIN9	c.*1100T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75495840T>C	(Likely) benign	1 lab	49c467b687
8:59410903 CYP7A1 C>A	8	59410903	59410903	C	A	CYP7A1	c.206G>T	NM_000780.4	NP_000771.2:p.(Cys69Phe)	NC_000008.10:g.59410903C>A	VUS	1 lab	49c671a933
6:32056580 TNXB A>C	6	32056580	32056580	A	C	TNXB	c.2761T>G	NM_019105.8	NP_061978.6:p.(Ser921Ala)	NC_000006.11:g.32056580A>C	(Likely) benign	1 lab	49c9382cab
2:179631357 TTN TAAA>T	2	179631357	179631364	TAAA	T	TTN	c.9472-21_9472-19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179631362_179631364del	(Likely) benign	1 lab	49cb33a790
5:93943291 MISSING G>Alt too long to show for this DUP	5	93943291	94017670	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.93943294_94017670dup	VUS	1 lab	49cec43e98
1:237732529 RYR2 G>A	1	237732529	237732529	G	A	RYR2	c.3508G>A	NM_001035.3	NP_001026.2:p.(Glu1170Lys)	NC_000001.10:g.237732529G>A	VUS	1 lab	49d08d5f63
4:106158074 TET2 GT>G	4	106158074	106158075	GT	G	TET2	c.2976del	NM_001127208.3	NP_001120680.1:p.(Cys992Ter)	NC_000004.11:g.106158075del	(Likely) pathogenic	1 lab	49d094b0c5
1:55522674 PCSK9 C>T	1	55522674	55522674	C	T	PCSK9	c.997-330C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522674C>T	(Likely) benign	1 lab	49d0d40324
11:2799199 KCNQ1 C>G	11	2799199	2799199	C	G	KCNQ1	c.1733-7C>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2799199C>G	(Likely) benign	1 lab	49d4fd9672
18:3447725 TGIF1 C>T	18	3447725	3447725	C	T	TGIF1	c.-13C>T	NM_173207.4	NP_775299.1:p.?	NC_000018.9:g.3447725C>T	(Likely) benign	1 lab	49d5932467
11:88242407 GRM5 T>C	11	88242407	88242407	T	C	GRM5	c.2896A>G	NM_000842.5	NP_000833.1:p.(Lys966Glu)	NC_000011.9:g.88242407T>C	VUS	1 lab	49d6130e32
12:133201324 POLE G>C	12	133201324	133201324	G	C	POLE	c.6820C>G	NM_006231.4	NP_006222.2:p.(Leu2274Val)	NC_000012.11:g.133201324G>C	(Likely) benign	1 lab	49da0c4077
2:68268938 MISSING A>Alt too long to show for this DUP	2	68268938	68504157	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.68268939_68504157dup	VUS	1 lab	49ddbf29da
20:3899327 PANK2 C>T	20	3899327	3899327	C	T	PANK2	c.673C>T	NM_001324191.2	NP_001311120.1:p.(Gln225Ter)	NC_000020.10:g.3899327C>T	(Likely) pathogenic	1 lab	49e264b06b
5:139494087 PURA C>T	5	139494087	139494087	C	T	PURA	c.321C>T	NM_005859.5	NP_005850.1:p.(Ala107=)	NC_000005.9:g.139494087C>T	(Likely) benign	1 lab	49e464d6f7
11:116701898 APOC3 T>C	11	116701898	116701898	T	C	APOC3	c.179+286T>C	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701898T>C	(Likely) benign	1 lab	49e5b7f6bd
2:47896972 MISSING Ref too long to show for this DEL>G	2	47896972	48189934	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.47896973_48189934del	(Likely) pathogenic	1 lab	49e8fc7e05
11:47370404 MYBPC3 C>T	11	47370404	47370404	C	T	MYBPC3	c.655-312G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370404C>T	(Likely) benign	1 lab	49e9b2a302
1:211832061 NEK2 CAAAAAAAAAAA>C	1	211832061	211832090	CAAAAAAAAAAA	C	NEK2	c.1112-18_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832080_211832090del	(Likely) benign	1 lab	49ed12fc84
1:116932963 ATP1A1 C>T	1	116932963	116932963	C	T	ATP1A1	c.1152C>T	NM_001160233.2	NP_001153705.1:p.(Asn384=)	NC_000001.10:g.116932963C>T	(Likely) benign	1 lab	49eda33956
15:44912608 SPG11 G>GA	15	44912608	44912616	G	GA	SPG11	c.2621-8dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44912616dup	(Likely) benign	1 lab	49eead4958
11:59284010 MISSING Ref too long to show for this DEL>T	11	59284010	59288770	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.59284011_59288770del	VUS	1 lab	49f0997f95
1:25880529 LDLRAP1 GC>G	1	25880529	25880531	GC	G	LDLRAP1	c.207del	NM_015627.3	NP_056442.2:p.(Ala70ProfsTer19)	NC_000001.10:g.25880531del	(Likely) pathogenic	1 lab	49f88439f1
19:50750394 MYH14 C>T	19	50750394	50750394	C	T	MYH14	c.1329+15C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50750394C>T	(Likely) benign	1 lab	49f8cb8ddd
7:107314716 SLC26A4 A>G	7	107314716	107314716	A	G	SLC26A4	c.523A>G	NM_000441.2	NP_000432.1:p.(Met175Val)	NC_000007.13:g.107314716A>G	(Likely) benign	1 lab	49f8d05db4
X:154772327 TMLHE Ref too long to show for this DEL>T	X	154772327	154785767	Ref too long to show for this DEL	T	TMLHE	c.-1-10827_181+2429del	NM_018196.4	NP_060666.1:p.?	NC_000023.10:g.154772330_154785767del	VUS	1 lab	49fdf6817a
1:17586652 PADI3 Ref too long to show for this DEL>T	1	17586652	17594810	Ref too long to show for this DEL	T	PADI3	c.273+400_652+353del	NM_016233.2	NP_057317.2:p.?	NC_000001.10:g.17586653_17594810del	VUS	1 lab	49ffddaec6
11:108106555 ATM T>C	11	108106555	108106555	T	C	ATM	c.490T>C	NM_000051.4	NP_000042.3:p.(Trp164Arg)	NC_000011.9:g.108106555T>C	VUS	1 lab	4a0023e296
2:215661770 BARD1 A>C	2	215661770	215661770	A	C	BARD1	c.215+15T>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661770A>C	VUS	1 lab	4a01ac786b
10:91007603 LIPA T>TTTTATTTA	10	91007603	91007640	T	TTTTATTTA	LIPA	c.-1-205_-1-198dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007633_91007640dup	(Likely) benign	1 lab	4a0263187e
5:133942741 SAR1B T>G	5	133942741	133942741	T	G	SAR1B	c.496A>C	NM_001033503.3	NP_001028675.1:p.(Lys166Gln)	NC_000005.9:g.133942741T>G	VUS	1 lab	4a05de1d7e
4:100540243 MTTP G>T	4	100540243	100540243	G	T	MTTP	c.2330G>T	NM_000253.4	NP_000244.2:p.(Arg777Leu)	NC_000004.11:g.100540243G>T	VUS	1 lab	4a0d30bd98
3:52429367 DNAH1 C>T	3	52429367	52429367	C	T	DNAH1	c.11012C>T	NM_015512.5	NP_056327.4:p.(Thr3671Ile)	NC_000003.11:g.52429367C>T	VUS	1 lab	4a0f9ffca0
8:19818774 LPL G>T	8	19818774	19818774	G	T	LPL	c.1322+180G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818774G>T	VUS	1 lab	4b18532c48
2:24949439 NCOA1 C>A	2	24949439	24949439	C	A	NCOA1	c.2600-19C>A	NM_001362950.1	NP_001349879.1:p.?	NC_000002.11:g.24949439C>A	(Likely) benign	1 lab	4a14af91b2
11:47361236 MYBPC3 GCAGGGTCCC>G	11	47361236	47361248	GCAGGGTCCC	G	MYBPC3	c.2024_2032del	NM_000256.3	NP_000247.2:p.(Gly675_Pro677del)	NC_000011.9:g.47361240_47361248del	VUS	1 lab	4a190b86b8
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+20_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948342_133948371dup	(Likely) benign	1 lab	4a1c5cc231
12:21331891 SLCO1B1 A>G	12	21331891	21331891	A	G	SLCO1B1	c.664A>G	NM_006446.5	NP_006437.3:p.(Ile222Val)	NC_000012.11:g.21331891A>G	(Likely) benign	1 lab	4a1f1b9414
6:102043630 GRIK2 Ref too long to show for this DEL>A	6	102043630	102050781	Ref too long to show for this DEL	A	GRIK2	c.116-26192_116-19043del	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102043632_102050781del	VUS	1 lab	4a1f6861ad
10:12133501 DHTKD1 T>C	10	12133501	12133501	T	C	DHTKD1	c.988-11T>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12133501T>C	(Likely) benign	1 lab	4a285eca2c
11:6646654 DCHS1 G>A	11	6646654	6646654	G	A	DCHS1	c.6921C>T	NM_003737.4	NP_003728.1:p.(Pro2307=)	NC_000011.9:g.6646654G>A	(Likely) benign	1 lab	4a286e85c6
2:105472556 POU3F3 AGCC>A	2	105472556	105472579	AGCC	A	POU3F3	c.609_611del	NM_006236.3	NP_006227.1:p.(Ala204del)	NC_000002.11:g.105472577_105472579del	(Likely) benign	1 lab	4a2c23b245
19:45452271 APOC2 G>T	19	45452271	45452271	G	T	APOC2	c.216-145G>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452271G>T	(Likely) benign	1 lab	4a308a4802
7:16350155 CRPPA Ref too long to show for this DEL>T	7	16350155	16435880	Ref too long to show for this DEL	T	CRPPA	c.534+9806_685-1904del	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16350156_16435880del	VUS	1 lab	4a320fc161
18:42532790 SETBP1 G>A	18	42532790	42532790	G	A	SETBP1	c.3485G>A	NM_015559.3	NP_056374.2:p.(Arg1162Gln)	NC_000018.9:g.42532790G>A	VUS	1 lab	4a351430ab
1:109801353 MISSING G>Alt too long to show for this DUP	1	109801353	109838971	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.109801357_109838971dup	VUS	1 lab	4a35aaad3b
7:154667688 DPP6 C>T	7	154667688	154667688	C	T	DPP6	c.1770C>T	NM_001936.5	NP_001927.3:p.(Ser590=)	NC_000007.13:g.154667688C>T	(Likely) benign	1 lab	4a3614865f
17:48262618 COL1A1 C>CTT	17	48262618	48262637	C	CTT	COL1A1	c.*243_*244dup	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48262636_48262637dup	(Likely) benign	1 lab	4a3cab4439
19:8191184 FBN3 C>T	19	8191184	8191184	C	T	FBN3	c.2602G>A	NM_032447.5	NP_115823.3:p.(Asp868Asn)	NC_000019.9:g.8191184C>T	(Likely) benign	1 lab	4a3d6cef3e
1:12030759 PLOD1 G>T	1	12030759	12030759	G	T	PLOD1	c.1788G>T	NM_000302.4	NP_000293.2:p.(Val596=)	NC_000001.10:g.12030759G>T	(Likely) benign	1 lab	4a3e60db0f
2:27458499 CAD T>C	2	27458499	27458499	T	C	CAD	c.4065T>C	NM_004341.5	NP_004332.2:p.(His1355=)	NC_000002.11:g.27458499T>C	(Likely) benign	1 lab	4a431322f2
15:67358501 SMAD3 C>T	15	67358501	67358501	C	T	SMAD3	c.9C>T	NM_005902.4	NP_005893.1:p.(Ser3=)	NC_000015.9:g.67358501C>T	(Likely) benign	1 lab	4a449e7736
11:47354424 MYBPC3 A>G	11	47354424	47354424	A	G	MYBPC3	c.3431T>C	NM_000256.3	NP_000247.2:p.(Met1144Thr)	NC_000011.9:g.47354424A>G	VUS	1 lab	4a4791e1ba
1:112524392 KCND3 G>A	1	112524392	112524392	G	A	KCND3	c.957C>T	NM_004980.5	NP_004971.2:p.(Ser319=)	NC_000001.10:g.112524392G>A	(Likely) benign	1 lab	4a490faf52
16:1004626 LMF1 G>C	16	1004626	1004626	G	C	LMF1	c.234C>G	NM_022773.4	NP_073610.2:p.(Leu78=)	NC_000016.9:g.1004626G>C	(Likely) benign	1 lab	4a4d31fd7b
6:135732502 AHI1 C>A	6	135732502	135732502	C	A	AHI1	c.2945G>T	NM_001134831.2	NP_001128303.1:p.(Arg982Met)	NC_000006.11:g.135732502C>A	VUS	1 lab	4a4e466116
13:52544880 ATP7B A>G	13	52544880	52544880	A	G	ATP7B	c.1291T>C	NM_000053.4	NP_000044.2:p.(Cys431Arg)	NC_000013.10:g.52544880A>G	(Likely) benign	1 lab	4a4eeda203
13:110839519 COL4A1 C>T	13	110839519	110839519	C	T	COL4A1	c.1694G>A	NM_001845.6	NP_001836.3:p.(Gly565Asp)	NC_000013.10:g.110839519C>T	VUS	1 lab	4a501150e4
2:38303017 CYP1B1 A>AG	2	38303017	38303018	A	AG	CYP1B1	c.-98_-96=	NM_000104.4	NP_000095.2:p.?	NC_000002.11:g.38303018dup	(Likely) benign	1 lab	4a5129beaa
2:27306701 EMILIN1 C>T	2	27306701	27306701	C	T	EMILIN1	c.2262C>T	NM_007046.4	NP_008977.1:p.(His754=)	NC_000002.11:g.27306701C>T	(Likely) benign	1 lab	4a51d2d8ae
8:100847749 VPS13B C>G	8	100847749	100847749	C	G	VPS13B	c.9818-18C>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100847749C>G	(Likely) benign	1 lab	4a53391bb6
6:135754156 AHI1 C>T	6	135754156	135754156	C	T	AHI1	c.2266+9G>A	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135754156C>T	(Likely) benign	1 lab	4a53a4c4b2
2:27302125 EMILIN1 C>T	2	27302125	27302125	C	T	EMILIN1	c.170+22C>T	NM_007046.4	NP_008977.1:p.?	NC_000002.11:g.27302125C>T	(Likely) benign	1 lab	4a57413c1e
17:8140822 CTC1 A>G	17	8140822	8140822	A	G	CTC1	c.663T>C	NM_025099.6	NP_079375.3:p.(Gly221=)	NC_000017.10:g.8140822A>G	(Likely) benign	1 lab	4a5b94612d
15:48729688 FBN1 T>C	15	48729688	48729688	T	C	FBN1	c.6314-104A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48729688T>C	(Likely) benign	1 lab	4a63551458
1:156084742 LMNA C>T	1	156084742	156084742	C	T	LMNA	c.33C>T	NM_170707.4	NP_733821.1:p.(Arg11=)	NC_000001.10:g.156084742C>T	(Likely) benign	1 lab	4a65ba0d78
1:55509621 PCSK9 C>T	1	55509621	55509621	C	T	PCSK9	c.313C>T	NM_174936.4	NP_777596.2:p.(Arg105Trp)	NC_000001.10:g.55509621C>T	VUS	1 lab	4a66358bc7
X:70443672 GJB1 G>T	X	70443672	70443672	G	T	GJB1	c.115G>T	NM_000166.6	NP_000157.1:p.(Ala39Ser)	NC_000023.10:g.70443672G>T	(Likely) pathogenic	1 lab	4a6884380d
11:9990029 SBF2 G>A	11	9990029	9990029	G	A	SBF2	c.1459C>T	NM_030962.4	NP_112224.1:p.(Arg487Ter)	NC_000011.9:g.9990029G>A	(Likely) pathogenic	1 lab	4a6b912d54
9:116151981 ALAD C>T	9	116151981	116151981	C	T	ALAD	c.627-15G>A	NM_000031.6	NP_000022.3:p.?	NC_000009.11:g.116151981C>T	(Likely) benign	1 lab	4a717dbd05
20:33665969 TRPC4AP C>T	20	33665969	33665969	C	T	TRPC4AP	c.177G>A	NM_015638.3	NP_056453.1:p.(Glu59=)	NC_000020.10:g.33665969C>T	(Likely) benign	1 lab	4a730341e0
10:90703586 ACTA2 T>C	10	90703586	90703586	T	C	ACTA2	c.337A>G	NM_001613.4	NP_001604.1:p.(Asn113Asp)	NC_000010.10:g.90703586T>C	VUS	1 lab	4a74d1b4f7
2:196762490 DNAH7 CT>C	2	196762490	196762491	CT	C	DNAH7	c.4549-2del	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196762491del	(Likely) benign	1 lab	4a75aac33a
2:21234812 APOB G>A	2	21234812	21234812	G	A	APOB	c.4928C>T	NM_000384.3	NP_000375.3:p.(Ala1643Val)	NC_000002.11:g.21234812G>A	VUS	1 lab	4a75e93090
16:67655479 CTCF C>T	16	67655479	67655479	C	T	CTCF	c.1342C>T	NM_006565.4	NP_006556.1:p.(Arg448Ter)	NC_000016.9:g.67655479C>T	(Likely) pathogenic	1 lab	4a799d8c57
8:22059362 BMP1 C>T	8	22059362	22059362	C	T	BMP1	c.2154C>T	NM_006129.5	NP_006120.1:p.(Cys718=)	NC_000008.10:g.22059362C>T	(Likely) benign	1 lab	4a7d2fb7c9
15:45392277 DUOX2 C>T	15	45392277	45392277	C	T	DUOX2	c.3155G>A	NM_001363711.2	NP_001350640.1:p.(Cys1052Tyr)	NC_000015.9:g.45392277C>T	VUS	1 lab	4a7e6d1171
6:112463372 LAMA4 C>T	6	112463372	112463372	C	T	LAMA4	c.2616G>A	NM_001105206.3	NP_001098676.2:p.(Pro872=)	NC_000006.11:g.112463372C>T	(Likely) benign	1 lab	4a82ffd5b8
X:9679669 TBL1X G>A	X	9679669	9679669	G	A	TBL1X	c.1458G>A	NM_005647.4	NP_005638.1:p.(Thr486=)	NC_000023.10:g.9679669G>A	(Likely) benign	1 lab	4aa7be7aa1
4:95886292 MISSING Ref too long to show for this DEL>C	4	95886292	102051478	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.95886293_102051478del	(Likely) pathogenic	1 lab	4a86d9ce92
1:85733527 MISSING Ref too long to show for this DEL>G	1	85733527	86487836	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.85733529_86487836del	VUS	1 lab	4a9189c4cb
2:47129728 MISSING Ref too long to show for this DEL>A	2	47129728	47174200	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.47129730_47174200del	VUS	1 lab	4a961fa0c5
8:1905354 ARHGEF10 G>C	8	1905354	1905354	G	C	ARHGEF10	c.4032G>C	NM_001308153.2	NP_001295082.1:p.(Arg1344Ser)	NC_000008.10:g.1905354G>C	(Likely) benign	1 lab	4a96afde95
1:170185595 MISSING Ref too long to show for this DEL>C	1	170185595	170706792	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.170185597_170706792del	VUS	1 lab	4a96fbe7f3
8:19811692 LPL T>C	8	19811692	19811692	T	C	LPL	c.603T>C	NM_000237.3	NP_000228.1:p.(Asp201=)	NC_000008.10:g.19811692T>C	(Likely) benign	1 lab	4a98f48fe0
16:1020629 LMF1 C>G	16	1020629	1020629	C	G	LMF1	c.-362+10516G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020629C>G	(Likely) benign	1 lab	4a9a7ceee0
22:46780521 CELSR1 T>C	22	46780521	46780521	T	C	CELSR1	c.6802A>G	NM_001378328.1	NP_001365257.1:p.(Thr2268Ala)	NC_000022.10:g.46780521T>C	(Likely) benign	1 lab	4a9d8092a2
2:167143130 SCN9A T>C	2	167143130	167143130	T	C	SCN9A	c.1318A>G	NM_002977.3	NP_002968.1:p.(Ile440Val)	NC_000002.11:g.167143130T>C	VUS	1 lab	4a9e208c03
1:10363224 KIF1B G>A	1	10363224	10363224	G	A	KIF1B	c.1981G>A	NM_183416.4	NP_904325.2:p.(Ala661Thr)	NC_000001.10:g.10363224G>A	VUS	1 lab	4aa6f5db5e
2:179613505 TTN T>C	2	179613505	179613505	T	C	TTN	c.13622A>G	NM_133379.5	NP_596870.2:p.(Lys4541Arg)	NC_000002.11:g.179613505T>C	(Likely) benign	1 lab	4aa71a1788
3:37089021 MLH1 G>A	3	37089021	37089021	G	A	MLH1	c.1743G>A	NM_000249.4	NP_000240.1:p.(Pro581=)	NC_000003.11:g.37089021G>A	(Likely) benign	1 lab	4aa7301eaf
X:154111378 MISSING A>Alt too long to show for this DUP	X	154111378	154571392	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154111379_154571392dup	VUS	1 lab	4aa8d7b416
16:15809163 MYH11 G>A	16	15809163	15809163	G	A	MYH11	c.5526-34C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15809163G>A	(Likely) benign	1 lab	4aa93d0712
2:179593472 TTN A>T	2	179593472	179593472	A	T	TTN	c.19181T>A	NM_001267550.2	NP_001254479.2:p.(Val6394Asp)	NC_000002.11:g.179593472A>T	VUS	1 lab	4aaf972ae3
5:90098692 ADGRV1 A>G	5	90098692	90098692	A	G	ADGRV1	c.14654A>G	NM_032119.4	NP_115495.3:p.(Asn4885Ser)	NC_000005.9:g.90098692A>G	(Likely) benign	1 lab	4ab0ef8b28
19:1440414 RPS15 C>T	19	1440414	1440414	C	T	RPS15	c.412C>T	NM_001308226.2	NP_001295155.1:p.(Pro138Ser)	NC_000019.9:g.1440414C>T	VUS	1 lab	4ab3a4aca2
5:149275943 PDE6A C>T	5	149275943	149275943	C	T	PDE6A	c.1596G>A	NM_000440.3	NP_000431.2:p.(Val532=)	NC_000005.9:g.149275943C>T	(Likely) benign	1 lab	4ab551faef
8:30925822 WRN C>G	8	30925822	30925822	C	G	WRN	c.703C>G	NM_000553.6	NP_000544.2:p.(Gln235Glu)	NC_000008.10:g.30925822C>G	(Likely) benign	1 lab	4ab91d5605
X:70443972 GJB1 G>A	X	70443972	70443972	G	A	GJB1	c.415G>A	NM_000166.6	NP_000157.1:p.(Val139Met)	NC_000023.10:g.70443972G>A	(Likely) pathogenic	1 lab	4abbd5d632
2:62920283 MISSING Ref too long to show for this DEL>T	2	62920283	65689103	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.62920284_65689103del	(Likely) pathogenic	1 lab	4abd7914b7
20:61461010 COL9A3 C>T	20	61461010	61461010	C	T	COL9A3	c.1084C>T	NM_001853.4	NP_001844.3:p.(Pro362Ser)	NC_000020.10:g.61461010C>T	(Likely) benign	1 lab	4abe71def3
1:3328982 PRDM16 ACGGACCGAGCCCTCG>A	1	3328982	3328998	ACGGACCGAGCCCTCG	A	PRDM16	c.2223_2237del	NM_022114.4	NP_071397.3:p.(Asp742_Ala746del)	NC_000001.10:g.3328984_3328998del	VUS	1 lab	4ac1eb1b6e
17:48273721 COL1A1 CG>C	17	48273721	48273726	CG	C	COL1A1	c.910del	NM_000088.4	NP_000079.2:p.(Arg304ValfsTer237)	NC_000017.10:g.48273726del	(Likely) pathogenic	1 lab	4ac2a42b43
16:921497 LMF1 TGTGCCTTCATGGAGGGGACAGCAGATGCCTCAGAG>T	16	921497	921540	TGTGCCTTCATGGAGGGGACAGCAGATGCCTCAGAG	T	LMF1	c.499-191_499-157del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921506_921540del	(Likely) benign	1 lab	4ac4ac1240
19:42777657 CIC G>A	19	42777657	42777657	G	A	CIC	c.1722G>A	NM_001386298.1	NP_001373227.1:p.(Ala574=)	NC_000019.9:g.42777657G>A	(Likely) benign	1 lab	4ac64fd55a
8:144297198 GPIHBP1 G>A	8	144297198	144297198	G	A	GPIHBP1	c.360G>A	NM_178172.6	NP_835466.2:p.(Thr120=)	NC_000008.10:g.144297198G>A	(Likely) benign	1 lab	4ac658f1c6
1:222827763 MIA3 T>C	1	222827763	222827763	T	C	MIA3	c.4410T>C	NM_198551.4	NP_940953.2:p.(Asp1470=)	NC_000001.10:g.222827763T>C	(Likely) benign	1 lab	4ac919045e
11:66282156 BBS1 A>G	11	66282156	66282156	A	G	BBS1	c.432+7A>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66282156A>G	(Likely) benign	1 lab	4ad244d0c9
8:1874562 ARHGEF10 AC>A	8	1874562	1874565	AC	A	ARHGEF10	c.2705del	NM_001308153.2	NP_001295082.1:p.(Pro902LeufsTer5)	NC_000008.10:g.1874565del	VUS	1 lab	4ad4048395
11:68131198 LRP5 C>T	11	68131198	68131198	C	T	LRP5	c.687-17C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68131198C>T	(Likely) benign	1 lab	4ad503de8b
11:47358550 MYBPC3 G>C	11	47358550	47358550	G	C	MYBPC3	c.2602+392C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358550G>C	(Likely) benign	1 lab	4ad79897b2
2:179610585 TTN G>A	2	179610585	179610585	G	A	TTN	c.16542C>T	NM_133379.5	NP_596870.2:p.(Pro5514=)	NC_000002.11:g.179610585G>A	(Likely) benign	1 lab	4ad84b5027
1:63070466 ANGPTL3 C>T	1	63070466	63070466	C	T	ANGPTL3	c.1361C>T	NM_014495.4	NP_055310.1:p.(Thr454Ile)	NC_000001.10:g.63070466C>T	(Likely) benign	1 lab	4adcd86ce3
2:44040386 ABCG5 T>G	2	44040386	44040386	T	G	ABCG5	c.1825A>C	NM_022436.3	NP_071881.1:p.(Ile609Leu)	NC_000002.11:g.44040386T>G	VUS	1 lab	4ade610bb8
12:21358966 SLCO1B1 TAGTG>T	12	21358966	21358973	TAGTG	T	SLCO1B1	c.1497+3_1497+6del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358970_21358973del	(Likely) benign	1 lab	4adf15a276
X:85647658 DACH2 Ref too long to show for this DEL>A	X	85647658	85699982	Ref too long to show for this DEL	A	DACH2	c.527+15794_527+68117del	NM_053281.3	NP_444511.1:p.?	NC_000023.10:g.85647659_85699982del	VUS	1 lab	4ae38b15f9
3:195690226 MISSING Ref too long to show for this DEL>G	3	195690226	197398439	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.195690229_197398439del	(Likely) pathogenic	1 lab	4ae6300594
5:127668787 FBN2 A>G	5	127668787	127668787	A	G	FBN2	c.4100-61T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127668787A>G	(Likely) benign	1 lab	4ae736455b
17:1678338 SERPINF1 A>T	17	1678338	1678338	A	T	SERPINF1	c.644-14A>T	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1678338A>T	(Likely) benign	1 lab	4ae99618a6
12:32949252 PKP2 AC>A	12	32949252	32949253	AC	A	PKP2	c.2300-21del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949253del	(Likely) benign	1 lab	4aeb0a0ba1
2:170065946 LRP2 C>T	2	170065946	170065946	C	T	LRP2	c.6469+17G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170065946C>T	(Likely) benign	1 lab	4aebf42b6c
10:64210559 ZNF365 Ref too long to show for this DEL>T	10	64210559	64261986	Ref too long to show for this DEL	T	ZNF365				NC_000010.10:g.64210561_64261986del	VUS	1 lab	4aeda6f5c8
15:44222529 FRMD5 Ref too long to show for this DEL>T	15	44222529	44291992	Ref too long to show for this DEL	T	FRMD5	c.103-75485_103-6023del	NM_032892.5	NP_116281.2:p.?	NC_000015.9:g.44222530_44291992del	VUS	1 lab	4aedf11435
15:58841167 LIPC C>G	15	58841167	58841167	C	G	LIPC	c.1051+396C>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58841167C>G	(Likely) benign	1 lab	4af5838931
4:103898325 SLC9B1 Ref too long to show for this DEL>G	4	103898325	103923973	Ref too long to show for this DEL	G	SLC9B1	c.-1-11103_211+12631del	NM_139173.4	NP_631912.3:p.?	NC_000004.11:g.103898327_103923973del	VUS	1 lab	4af8bf2f4c
11:116701907 APOC3 TTC>T	11	116701907	116701910	TTC	T	APOC3	c.179+297_179+298del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701909_116701910del	(Likely) benign	1 lab	4af96d1a58
2:179544340 TTN G>A	2	179544340	179544340	G	A	TTN	c.33650C>T	NM_001267550.2	NP_001254479.2:p.(Ala11217Val)	NC_000002.11:g.179544340G>A	VUS	1 lab	4afa88d465
19:45452054 APOC2 C>T	19	45452054	45452054	C	T	APOC2	c.152C>T	NM_000483.5	NP_000474.2:p.(Ala51Val)	NC_000019.9:g.45452054C>T	VUS	1 lab	4afb5aa1f4
5:16565853 RETREG1 C>T	5	16565853	16565853	C	T	RETREG1	c.458+19G>A	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16565853C>T	(Likely) benign	1 lab	4afb7b1858
1:78401354 NEXN TGA>T	1	78401354	78401357	TGA	T	NEXN	c.1252-152_1252-151del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78401356_78401357del	VUS	1 lab	4afcf8607a
2:179440106 TTN C>T	2	179440106	179440106	C	T	TTN	c.70753G>A	NM_001267550.2	NP_001254479.2:p.(Val23585Met)	NC_000002.11:g.179440106C>T	VUS	1 lab	4afd20c12e
1:155658060 YY1AP1 A>G	1	155658060	155658060	A	G	YY1AP1	c.196T>C	NM_001198903.1	NP_001185832.1:p.(Ser66Pro)	NC_000001.10:g.155658060A>G	(Likely) benign	1 lab	4afff7c90e
10:92680106 ANKRD1 C>T	10	92680106	92680106	C	T	ANKRD1	c.28-1G>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680106C>T	VUS	1 lab	4b00533a4f
6:112443370 LAMA4 G>A	6	112443370	112443370	G	A	LAMA4	c.4322C>T	NM_001105206.3	NP_001098676.2:p.(Pro1441Leu)	NC_000006.11:g.112443370G>A	VUS	1 lab	4b022937ea
3:38601436 SCN5A T>C	3	38601436	38601436	T	C	SCN5A	c.4245+202A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38601436T>C	(Likely) benign	1 lab	4b02685816
1:235878516 LYST A>G	1	235878516	235878516	A	G	LYST	c.9769T>C	NM_001301365.1	NP_001288294.1:p.(Phe3257Leu)	NC_000001.10:g.235878516A>G	(Likely) benign	1 lab	4b05a2b70a
1:25817703 MISSING Ref too long to show for this DEL>A	1	25817703	28504156	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.25817704_28504156del	(Likely) pathogenic	1 lab	4b06f9715d
8:10466820 RP1L1 G>A	8	10466820	10466820	G	A	RP1L1	c.4788C>T	NM_178857.6	NP_849188.4:p.(Thr1596=)	NC_000008.10:g.10466820G>A	(Likely) benign	1 lab	4b08ee8680
13:30829757 KATNAL1 C>CAAAAA	13	30829757	30829776	C	CAAAAA	KATNAL1	c.324-10_324-6dup	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829772_30829776dup	(Likely) benign	1 lab	4b09775d7c
10:95418891 PDE6C T>C	10	95418891	95418891	T	C	PDE6C	c.2175T>C	NM_006204.4	NP_006195.3:p.(Ser725=)	NC_000010.10:g.95418891T>C	(Likely) benign	1 lab	4b09b7c75e
2:189921934 COL5A2 G>A	2	189921934	189921934	G	A	COL5A2	c.2337+112C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189921934G>A	(Likely) benign	1 lab	4b0c1d6c75
17:37949050 IKZF3 C>T	17	37949050	37949050	C	T	IKZF3	c.300G>A	NM_012481.5	NP_036613.2:p.(Lys100=)	NC_000017.10:g.37949050C>T	(Likely) benign	1 lab	4b1138ef3e
17:48272118 COL1A1 G>A	17	48272118	48272118	G	A	COL1A1	c.1425C>T	NM_000088.4	NP_000079.2:p.(Pro475=)	NC_000017.10:g.48272118G>A	(Likely) benign	1 lab	4b120308cc
15:49031107 CEP152 G>T	15	49031107	49031107	G	T	CEP152	c.4472C>A	NM_001194998.2	NP_001181927.1:p.(Pro1491Gln)	NC_000015.9:g.49031107G>T	(Likely) benign	1 lab	4b12db2546
2:179594026 TTN A>G	2	179594026	179594026	A	G	TTN	c.18857T>C	NM_001267550.2	NP_001254479.2:p.(Val6286Ala)	NC_000002.11:g.179594026A>G	VUS	1 lab	4b14092d4c
2:96959129 SNRNP200 G>T	2	96959129	96959129	G	T	SNRNP200	c.1961C>A	NM_014014.5	NP_054733.2:p.(Thr654Asn)	NC_000002.11:g.96959129G>T	VUS	1 lab	4b15bbaff8
16:81398635 GAN C>T	16	81398635	81398635	C	T	GAN	c.1293C>T	NM_022041.4	NP_071324.1:p.(Tyr431=)	NC_000016.9:g.81398635C>T	(Likely) benign	1 lab	4b161df5c3
1:236899883 ACTN2 C>T	1	236899883	236899883	C	T	ACTN2	c.74C>T	NM_001278344.2	NP_001265273.1:p.(Ser25Leu)	NC_000001.10:g.236899883C>T	VUS	1 lab	4b16cf0cf2
11:116660672 APOA5 G>A	11	116660672	116660672	G	A	APOA5	c.*172C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660672G>A	(Likely) benign	1 lab	4b17f6b613
5:127611507 FBN2 C>T	5	127611507	127611507	C	T	FBN2	c.7594+223G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127611507C>T	(Likely) benign	1 lab	4b18abdb62
X:140993511 MAGEC1 C>T	X	140993511	140993511	C	T	MAGEC1	c.321C>T	NM_005462.5	NP_005453.2:p.(Asp107=)	NC_000023.10:g.140993511C>T	(Likely) benign	1 lab	4b18c44997
X:84528768 MISSING T>Alt too long to show for this DUP	X	84528768	84790496	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.84528769_84790496dup	VUS	1 lab	4b194452da
6:135656219 MISSING A>Alt too long to show for this DUP	6	135656219	136157908	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.135656221_136157908dup	(Likely) pathogenic	1 lab	4b1c10e803
19:33131295 ANKRD27 C>A	19	33131295	33131295	C	A	ANKRD27	c.905-4G>T	NM_032139.3	NP_115515.2:p.?	NC_000019.9:g.33131295C>A	(Likely) benign	1 lab	4b2234a8db
2:27601724 ZNF513 C>T	2	27601724	27601724	C	T	ZNF513	c.409G>A	NM_144631.6	NP_653232.3:p.(Gly137Arg)	NC_000002.11:g.27601724C>T	(Likely) benign	1 lab	4b22f24ea7
2:31147385 GALNT14 Ref too long to show for this DEL>T	2	31147385	31190227	Ref too long to show for this DEL	T	GALNT14	c.300-1058_1235+220del	NM_024572.4	NP_078848.2:p.?	NC_000002.11:g.31147387_31190227del	VUS	1 lab	4b23b4498f
3:121508926 IQCB1 G>T	3	121508926	121508926	G	T	IQCB1	c.1123C>A	NM_001023570.4	NP_001018864.2:p.(His375Asn)	NC_000003.11:g.121508926G>T	VUS	1 lab	4b2c71ac7c
18:67794983 RTTN C>A	18	67794983	67794983	C	A	RTTN	c.408-6G>T	NM_001318520.2	NP_001305449.1:p.?	NC_000018.9:g.67794983C>A	(Likely) benign	1 lab	4b2d504047
6:33411679 SYNGAP1 G>T	6	33411679	33411679	G	T	SYNGAP1	c.3350G>T	NM_006772.3	NP_006763.2:p.(Gly1117Val)	NC_000006.11:g.33411679G>T	VUS	1 lab	4b30f745de
1:224349657 MISSING T>Alt too long to show for this DUP	1	224349657	224437947	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.224349659_224437947dup	VUS	1 lab	4b3163c7c4
3:38616766 SCN5A C>A	3	38616766	38616766	C	A	SCN5A	c.3666+22G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38616766C>A	(Likely) pathogenic	1 lab	4b345b43b3
9:107623570 ABCA1 G>T	9	107623570	107623570	G	T	ABCA1	c.543+390C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623570G>T	(Likely) benign	1 lab	4b36db1be1
2:21225595 APOB C>T	2	21225595	21225595	C	T	APOB	c.12699G>A	NM_000384.3	NP_000375.3:p.(Ser4233=)	NC_000002.11:g.21225595C>T	(Likely) benign	1 lab	4b3702bb34
1:236903172 ACTN2 A>G	1	236903172	236903172	A	G	ACTN2	c.1107+340A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236903172A>G	(Likely) benign	1 lab	4b3849842e
3:101038437 IMPG2 TA>T	3	101038437	101038441	TA	T	IMPG2	c.324del	NM_016247.4	NP_057331.2:p.(Phe108LeufsTer31)	NC_000003.11:g.101038441del	(Likely) pathogenic	1 lab	4b386ad375
4:100522539 MTTP T>G	4	100522539	100522539	T	G	MTTP	c.1237-225T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522539T>G	(Likely) benign	1 lab	4b3d5adec2
17:6374567 PITPNM3 C>T	17	6374567	6374567	C	T	PITPNM3	c.1538G>A	NM_031220.4	NP_112497.2:p.(Arg513His)	NC_000017.10:g.6374567C>T	(Likely) benign	1 lab	4b41ddf8c6
9:107646260 ABCA1 T>C	9	107646260	107646260	T	C	ABCA1	c.302+448A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646260T>C	(Likely) benign	1 lab	4b42c77e3d
2:179409089 TTN C>G	2	179409089	179409089	C	G	TTN	c.95867G>C	NM_001267550.2	NP_001254479.2:p.(Trp31956Ser)	NC_000002.11:g.179409089C>G	VUS	1 lab	4b446afde8
15:76958034 SCAPER T>A	15	76958034	76958034	T	A	SCAPER	c.2623A>T	NM_001353009.2	NP_001339938.1:p.(Lys875Ter)	NC_000015.9:g.76958034T>A	VUS	1 lab	4b4ddb8b61
5:82837586 VCAN G>A	5	82837586	82837586	G	A	VCAN	c.8764G>A	NM_004385.5	NP_004376.2:p.(Ala2922Thr)	NC_000005.9:g.82837586G>A	(Likely) benign	1 lab	4b4f6aaa73
7:128491885 FLNC A>C	7	128491885	128491885	A	C	FLNC	c.5842+203A>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491885A>C	(Likely) benign	1 lab	4b4fa7ee76
12:109702161 ACACB C>T	12	109702161	109702161	C	T	ACACB	c.6912C>T	NM_001093.4	NP_001084.3:p.(Pro2304=)	NC_000012.11:g.109702161C>T	(Likely) benign	1 lab	4b4fc2037d
6:79713537 PHIP T>C	6	79713537	79713537	T	C	PHIP	c.1563A>G	NM_017934.7	NP_060404.4:p.(Lys521=)	NC_000006.11:g.79713537T>C	(Likely) benign	1 lab	4b532200fc
22:51142692 SHANK3 T>A	22	51142692	51142692	T	A	SHANK3	c.1996+16T>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51142692T>A	(Likely) benign	1 lab	4b54387e9d
17:27244345 PHF12 AG>A	17	27244345	27244351	AG	A	PHF12	c.1091del	NM_001033561.2	NP_001028733.1:p.(Pro364LeufsTer14)	NC_000017.10:g.27244351del	VUS	1 lab	4b5b2d0a16
20:32005674 SNTA1 C>T	20	32005674	32005674	C	T	SNTA1	c.552G>A	NM_003098.3	NP_003089.1:p.(Ser184=)	NC_000020.10:g.32005674C>T	(Likely) benign	1 lab	4b5cab260e
19:11230519 LDLR G>GCA	19	11230519	11230524	G	GCA	LDLR	c.1846-245_1846-244dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230523_11230524dup	(Likely) benign	1 lab	4b5eaa1d84
7:154684172 DPP6 G>A	7	154684172	154684172	G	A	DPP6	c.2580G>A	NM_130797.4	NP_570629.2:p.(Glu860=)	NC_000007.13:g.154684172G>A	(Likely) benign	1 lab	4b61974105
2:179434563 TTN A>G	2	179434563	179434563	A	G	TTN	c.76296T>C	NM_001267550.2	NP_001254479.2:p.(Asp25432=)	NC_000002.11:g.179434563A>G	(Likely) benign	1 lab	4b645f3d1c
2:44059136 ABCG5 G>A	2	44059136	44059136	G	A	ABCG5	c.352C>T	NM_022436.3	NP_071881.1:p.(Arg118Trp)	NC_000002.11:g.44059136G>A	VUS	1 lab	4b68c4d044
1:236912576 ACTN2 G>A	1	236912576	236912576	G	A	ACTN2	c.1032+12G>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236912576G>A	(Likely) benign	1 lab	4b6a6d111b
15:48713637 FBN1 T>C	15	48713637	48713637	T	C	FBN1	c.7699+118A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48713637T>C	(Likely) benign	1 lab	4b6c9fef78
14:76349013 TTLL5 CT>C	14	76349013	76349023	CT	C	TTLL5	c.3523-5del	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76349023del	(Likely) benign	1 lab	4b6d0a500a
2:21233644 APOB C>T	2	21233644	21233644	C	T	APOB	c.6096G>A	NM_000384.3	NP_000375.3:p.(Glu2032=)	NC_000002.11:g.21233644C>T	(Likely) benign	1 lab	4b6d99082a
2:189963501 COL5A2 G>A	2	189963501	189963501	G	A	COL5A2	c.370-16C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189963501G>A	(Likely) benign	1 lab	4b6ff3a902
5:176893932 DBN1 C>T	5	176893932	176893932	C	T	DBN1	c.687G>A	NM_001363541.2	NP_001350470.2:p.(Glu229=)	NC_000005.9:g.176893932C>T	(Likely) benign	1 lab	4b70244cd1
11:108117684 ATM A>G	11	108117684	108117684	A	G	ATM	c.902-7A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108117684A>G	VUS	1 lab	4b70e4c67a
X:70444165 GJB1 T>A	X	70444165	70444165	T	A	GJB1	c.608T>A	NM_000166.6	NP_000157.1:p.(Ile203Asn)	NC_000023.10:g.70444165T>A	(Likely) pathogenic	1 lab	4b7587dc0e
11:116661134 APOA5 C>T	11	116661134	116661134	C	T	APOA5	c.811G>A	NM_052968.5	NP_443200.2:p.(Gly271Ser)	NC_000011.9:g.116661134C>T	VUS	1 lab	4b76ca8a7f
8:59409292 CYP7A1 C>A	8	59409292	59409292	C	A	CYP7A1	c.779G>T	NM_000780.4	NP_000771.2:p.(Arg260Leu)	NC_000008.10:g.59409292C>A	VUS	1 lab	4b791be628
10:53227474 PRKG1 C>T	10	53227474	53227474	C	T	PRKG1	c.434-9C>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53227474C>T	(Likely) benign	1 lab	4b79c5bdc6
7:107355902 SLC26A4 G>A	7	107355902	107355902	G	A	SLC26A4	c.*11G>A	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107355902G>A	(Likely) benign	1 lab	4b7dd551d6
7:128475475 FLNC G>A	7	128475475	128475475	G	A	FLNC	c.448G>A	NM_001458.5	NP_001449.3:p.(Asp150Asn)	NC_000007.13:g.128475475G>A	VUS	1 lab	4b80d78585
2:179433152 TTN C>T	2	179433152	179433152	C	T	TTN	c.77707G>A	NM_001267550.2	NP_001254479.2:p.(Val25903Ile)	NC_000002.11:g.179433152C>T	VUS	1 lab	4b857420b8
15:74036952 MISSING C>Alt too long to show for this DUP	15	74036952	74353562	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.74036955_74353562dup	VUS	1 lab	4b8607d257
2:238283612 COL6A3 CT>C	2	238283612	238283613	CT	C	COL6A3	c.3121del	NM_004369.4	NP_004360.2:p.(Arg1041GlyfsTer7)	NC_000002.11:g.238283613del	(Likely) pathogenic	1 lab	4b89e5e59e
15:28200303 OCA2 C>G	15	28200303	28200303	C	G	OCA2	c.1842+1G>C	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28200303C>G	(Likely) pathogenic	1 lab	4b8ba354ab
2:74597358 DCTN1 C>T	2	74597358	74597358	C	T	DCTN1	c.1242G>A	NM_004082.5	NP_004073.2:p.(Glu414=)	NC_000002.11:g.74597358C>T	(Likely) benign	1 lab	4ba0b885dd
8:133918945 TG C>T	8	133918945	133918945	C	T	TG	c.3647C>T	NM_003235.5	NP_003226.4:p.(Pro1216Leu)	NC_000008.10:g.133918945C>T	(Likely) benign	1 lab	4b91306cf8
9:41962752 FGF7P3 TG>T	9	41962752	41962753	TG	T	FGF7P3	n.762-6del	NR_003670.1		NC_000009.11:g.41962753del	(Likely) benign	1 lab	4b9249fe76
7:151267265 PRKAG2 T>C	7	151267265	151267265	T	C	PRKAG2	c.1098A>G	NM_016203.4	NP_057287.2:p.(Pro366=)	NC_000007.13:g.151267265T>C	(Likely) benign	1 lab	4b92cfc34a
17:48269161 COL1A1 G>A	17	48269161	48269161	G	A	COL1A1	c.2115C>T	NM_000088.4	NP_000079.2:p.(Asn705=)	NC_000017.10:g.48269161G>A	(Likely) benign	1 lab	4b9ba0b6d0
11:116706848 APOA1 C>A	11	116706848	116706848	C	A	APOA1	c.153G>T	NM_001318021.1	NP_001304950.1:p.(Glu51Asp)	NC_000011.9:g.116706848C>A	VUS	1 lab	4b9e55fcd1
7:155595792 SHH G>A	7	155595792	155595792	G	A	SHH	c.1191C>T	NM_000193.4	NP_000184.1:p.(Arg397=)	NC_000007.13:g.155595792G>A	(Likely) benign	1 lab	4b9ec00236
6:7579546 DSP C>T	6	7579546	7579546	C	T	DSP	c.3123C>T	NM_004415.4	NP_004406.2:p.(Leu1041=)	NC_000006.11:g.7579546C>T	(Likely) benign	1 lab	4ba164ef17
2:25458695 DNMT3A C>T	2	25458695	25458695	C	T	DNMT3A	c.2479-1G>A	NM_175629.2	NP_783328.1:p.?	NC_000002.11:g.25458695C>T	(Likely) pathogenic	1 lab	4ba1b1e919
3:37053563 MLH1 G>A	3	37053563	37053563	G	A	MLH1	c.650G>A	NM_000249.4	NP_000240.1:p.(Arg217His)	NC_000003.11:g.37053563G>A	VUS	1 lab	4ba1f93982
16:57016121 CETP C>T	16	57016121	57016121	C	T	CETP	c.1293C>T	NM_000078.3	NP_000069.2:p.(Thr431=)	NC_000016.9:g.57016121C>T	(Likely) benign	1 lab	4ba53e16e9
6:112463510 LAMA4 G>A	6	112463510	112463510	G	A	LAMA4	c.2494-16C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112463510G>A	(Likely) benign	1 lab	4ba6ff907a
14:88459355 GALC C>T	14	88459355	88459355	C	T	GALC	c.154G>A	NM_000153.4	NP_000144.2:p.(Gly52Ser)	NC_000014.8:g.88459355C>T	VUS	1 lab	4ba93a27ff
16:984017 LMF1 C>T	16	984017	984017	C	T	LMF1	c.89G>A	NM_001352018.2	NP_001338947.1:p.(Arg30His)	NC_000016.9:g.984017C>T	(Likely) benign	1 lab	4bac8b8cd8
2:238303472 COL6A3 T>C	2	238303472	238303472	T	C	COL6A3	c.467A>G	NM_004369.4	NP_004360.2:p.(Asp156Gly)	NC_000002.11:g.238303472T>C	VUS	1 lab	4badc9cd95
7:128486393 FLNC G>A	7	128486393	128486393	G	A	FLNC	c.4003G>A	NM_001458.5	NP_001449.3:p.(Val1335Met)	NC_000007.13:g.128486393G>A	VUS	1 lab	4baef7b644
15:91304374 BLM C>G	15	91304374	91304374	C	G	BLM	c.1771C>G	NM_000057.4	NP_000048.1:p.(Arg591Gly)	NC_000015.9:g.91304374C>G	(Likely) benign	1 lab	4baf45a147
6:159104730 SYTL3 Ref too long to show for this DEL>C	6	159104730	159146609	Ref too long to show for this DEL	C	SYTL3	c.394+710_795del	NM_001242394.2	NP_001229323.1:p.?	NC_000006.11:g.159104731_159146609del	VUS	1 lab	4bb1cb7c13
19:46275976 DMPK G>C	19	46275976	46275976	G	C	DMPK	c.1297C>G	NM_001081563.2	NP_001075032.1:p.(Leu433Val)	NC_000019.9:g.46275976G>C	(Likely) benign	1 lab	4bb206f1a7
X:13778298 OFD1 A>G	X	13778298	13778298	A	G	OFD1	c.1299A>G	NM_001330210.2	NP_001317139.1:p.(Leu433=)	NC_000023.10:g.13778298A>G	(Likely) benign	1 lab	4bb23c7881
9:107558434 ABCA1 T>G	9	107558434	107558434	T	G	ABCA1	c.5282A>C	NM_005502.4	NP_005493.2:p.(Lys1761Thr)	NC_000009.11:g.107558434T>G	VUS	1 lab	4bb2aaf904
8:98635505 MISSING T>Alt too long to show for this DUP	8	98635505	98964042	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.98635506_98964042dup	VUS	1 lab	4bbc8b34d2
21:35742966 KCNE2 C>T	21	35742966	35742966	C	T	KCNE2	c.189C>T	NM_172201.2	NP_751951.1:p.(Ile63=)	NC_000021.8:g.35742966C>T	(Likely) benign	1 lab	4bbe62f8df
5:90136800 ADGRV1 A>C	5	90136800	90136800	A	C	ADGRV1	c.17017A>C	NM_032119.4	NP_115495.3:p.(Lys5673Gln)	NC_000005.9:g.90136800A>C	(Likely) benign	1 lab	4bbf1aba49
6:65767616 EYS C>T	6	65767616	65767616	C	T	EYS	c.2028G>A	NM_001292009.2	NP_001278938.1:p.(Thr676=)	NC_000006.11:g.65767616C>T	VUS	1 lab	4bc172b239
18:47107884 LIPG C>T	18	47107884	47107884	C	T	LIPG	c.893C>T	NM_006033.4	NP_006024.1:p.(Thr298Ile)	NC_000018.9:g.47107884C>T	VUS	1 lab	4bc565b502
8:19810949 LPL G>A	8	19810949	19810949	G	A	LPL	c.541+17G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810949G>A	(Likely) benign	1 lab	4bc9a24514
2:21266751 APOB CCAG>C	2	21266751	21266770	CCAG	C	APOB	c.64_66del	NM_000384.3	NP_000375.3:p.(Leu22del)	NC_000002.11:g.21266768_21266770del	(Likely) benign	1 lab	4bcbe4c212
10:75855512 VCL G>C	10	75855512	75855512	G	C	VCL	c.1642G>C	NM_014000.3	NP_054706.1:p.(Val548Leu)	NC_000010.10:g.75855512G>C	VUS	1 lab	4bd224748c
8:19805699 LPL G>C	8	19805699	19805699	G	C	LPL	c.97G>C	NM_000237.3	NP_000228.1:p.(Asp33His)	NC_000008.10:g.19805699G>C	VUS	1 lab	4bdb78f52e
2:21252832 APOB G>A	2	21252832	21252832	G	A	APOB	c.1408C>T	NM_000384.3	NP_000375.3:p.(Leu470=)	NC_000002.11:g.21252832G>A	(Likely) benign	1 lab	4bdc4a13cf
5:127668620 FBN2 G>A	5	127668620	127668620	G	A	FBN2	c.4206C>T	NM_001999.4	NP_001990.2:p.(Asn1402=)	NC_000005.9:g.127668620G>A	(Likely) benign	1 lab	4bde90e444
14:102843057 TECPR2 C>T	14	102843057	102843057	C	T	TECPR2	c.-2C>T	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102843057C>T	(Likely) benign	1 lab	4be0264425
3:38891977 SCN11A A>G	3	38891977	38891977	A	G	SCN11A	c.4322T>C	NM_001349253.2	NP_001336182.1:p.(Ile1441Thr)	NC_000003.11:g.38891977A>G	VUS	1 lab	4be1497613
11:47365549 MYBPC3 G>A	11	47365549	47365549	G	A	MYBPC3	c.1091-374C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365549G>A	(Likely) benign	1 lab	4be14cbdc6
4:153596349 MISSING T>Alt too long to show for this DUP	4	153596349	153652180	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.153596351_153652180dup	VUS	1 lab	4be1f5fe47
1:25870210 LDLRAP1 G>C	1	25870210	25870210	G	C	LDLRAP1	c.21G>C	NM_015627.3	NP_056442.2:p.(Ala7=)	NC_000001.10:g.25870210G>C	(Likely) benign	1 lab	4be285544e
3:15613279 HACL1 TA>T	3	15613279	15613292	TA	T	HACL1	c.994-4del	NM_012260.4	NP_036392.2:p.?	NC_000003.11:g.15613292del	(Likely) benign	1 lab	4be93484a3
10:102775563 PDZD7 C>T	10	102775563	102775563	C	T	PDZD7	c.1579G>A	NM_001195263.2	NP_001182192.1:p.(Glu527Lys)	NC_000010.10:g.102775563C>T	(Likely) benign	1 lab	4beb8bc412
2:215645862 BARD1 G>T	2	215645862	215645862	G	T	BARD1	c.736C>A	NM_000465.4	NP_000456.2:p.(Pro246Thr)	NC_000002.11:g.215645862G>T	VUS	1 lab	4bece2abec
9:2718765 KCNV2 C>T	9	2718765	2718765	C	T	KCNV2	c.1026C>T	NM_133497.4	NP_598004.1:p.(Ala342=)	NC_000009.11:g.2718765C>T	(Likely) benign	1 lab	4bf227517a
7:74166420 GTF2I A>G	7	74166420	74166420	A	G	GTF2I	c.2477-2A>G	NM_032999.4	NP_127492.1:p.?	NC_000007.13:g.74166420A>G	(Likely) benign	1 lab	4bf435a34e
2:50151716 NRXN1 Ref too long to show for this DEL>C	2	50151716	50163724	Ref too long to show for this DEL	C	NRXN1	c.4216+7118_4217-2328del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50151717_50163724del	VUS	1 lab	4bf582caee
16:920171 LMF1 G>A	16	920171	920171	G	A	LMF1	c.834-105C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920171G>A	(Likely) benign	1 lab	4bf8ead3a2
22:41591509 MISSING Ref too long to show for this DEL>T	22	41591509	43540347	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.41591510_43540347del	(Likely) pathogenic	1 lab	4bf986bcdb
7:91694762 AKAP9 G>A	7	91694762	91694762	G	A	AKAP9	c.6195G>A	NM_005751.5	NP_005742.4:p.(Met2065Ile)	NC_000007.13:g.91694762G>A	VUS	1 lab	4bfde41dba
1:1168114 B3GALT6 G>C	1	1168114	1168114	G	C	B3GALT6	c.456G>C	NM_080605.4	NP_542172.2:p.(Val152=)	NC_000001.10:g.1168114G>C	(Likely) benign	1 lab	4bff3af479
1:10338204 KIF1B C>T	1	10338204	10338204	C	T	KIF1B	c.1162+18C>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10338204C>T	(Likely) benign	1 lab	4bffd69948
22:50903091 SBF1 C>G	22	50903091	50903091	C	G	SBF1	c.1508G>C	NM_002972.4	NP_002963.2:p.(Arg503Pro)	NC_000022.10:g.50903091C>G	VUS	1 lab	4c03f2ad39
11:47436476 SLC39A13 G>A	11	47436476	47436476	G	A	SLC39A13	c.919+16G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47436476G>A	(Likely) benign	1 lab	4c06173239
19:11238691 LDLR C>T	19	11238691	11238691	C	T	LDLR	c.2319C>T	NM_000527.5	NP_000518.1:p.(Gly773=)	NC_000019.9:g.11238691C>T	(Likely) benign	1 lab	4c07366051
2:21230334 APOB G>A	2	21230334	21230334	G	A	APOB	c.9406C>T	NM_000384.3	NP_000375.3:p.(Arg3136Cys)	NC_000002.11:g.21230334G>A	VUS	1 lab	4c0fd4ab48
6:17606158 FAM8A1 G>C	6	17606158	17606158	G	C	FAM8A1	c.1011G>C	NM_016255.3	NP_057339.1:p.(Gly337=)	NC_000006.11:g.17606158G>C	(Likely) benign	1 lab	4c1482436f
8:42287719 SLC20A2 G>A	8	42287719	42287719	G	A	SLC20A2	c.1572C>T	NM_001257180.2	NP_001244109.1:p.(Gly524=)	NC_000008.10:g.42287719G>A	(Likely) benign	1 lab	4c16b091ba
16:49669861 ZNF423 G>T	16	49669861	49669861	G	T	ZNF423	c.3022C>A	NM_001271620.2	NP_001258549.1:p.(Leu1008Met)	NC_000016.9:g.49669861G>T	(Likely) benign	1 lab	4c16f12561
11:47353510 MYBPC3 G>A	11	47353510	47353510	G	A	MYBPC3	c.3815-78C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353510G>A	(Likely) benign	1 lab	4c16f6d3c6
14:57272114 OTX2 C>G	14	57272114	57272114	C	G	OTX2	c.61G>C	NM_021728.4	NP_068374.1:p.(Gly21Arg)	NC_000014.8:g.57272114C>G	VUS	1 lab	4c17b049da
19:15308340 NOTCH3 G>C	19	15308340	15308340	G	C	NOTCH3	c.168C>G	NM_000435.3	NP_000426.2:p.(Thr56=)	NC_000019.9:g.15308340G>C	(Likely) benign	1 lab	4c1ac3da9b
9:34514434 DNAI1 G>A	9	34514434	34514434	G	A	DNAI1	c.1624G>A	NM_001281428.2	NP_001268357.1:p.(Ala542Thr)	NC_000009.11:g.34514434G>A	(Likely) pathogenic	1 lab	4c1c9f324a
9:140270179 MISSING Ref too long to show for this DEL>T	9	140270179	140590977	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.140270181_140590977del	(Likely) pathogenic	1 lab	4c21133d1a
15:75183819 MPI T>C	15	75183819	75183819	T	C	MPI	c.244T>C	NM_002435.3	NP_002426.1:p.(Leu82=)	NC_000015.9:g.75183819T>C	(Likely) benign	1 lab	4c22818197
2:220283744 DES TGCA>T	2	220283744	220283749	TGCA	T	DES	c.563_565del	NM_001927.4	NP_001918.3:p.(Gln188del)	NC_000002.11:g.220283747_220283749del	VUS	1 lab	4c2429d357
20:57466868 GNAS G>A	20	57466868	57466868	G	A	GNAS	c.87G>A	NM_001077488.5	NP_001070956.1:p.(Gln29=)	NC_000020.10:g.57466868G>A	(Likely) benign	1 lab	4c2520a1ca
12:38714490 ALG10B CTTT>C	12	38714490	38714497	CTTT	C	ALG10B	c.902_904del	NM_001013620.4	NP_001013642.2:p.(Phe301del)	NC_000012.11:g.38714495_38714497del	VUS	1 lab	4c2572f4f7
4:100528124 MTTP T>A	4	100528124	100528124	T	A	MTTP	c.1557+7T>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528124T>A	(Likely) benign	1 lab	4c27d03329
2:219679671 CYP27A1 C>A	2	219679671	219679671	C	A	CYP27A1	c.1514C>A	NM_000784.4	NP_000775.1:p.(Thr505Lys)	NC_000002.11:g.219679671C>A	VUS	1 lab	4c280486fa
1:6111824 KCNAB2 G>A	1	6111824	6111824	G	A	KCNAB2	c.218+10G>A	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6111824G>A	(Likely) benign	1 lab	4c293f533d
22:41077400 MCHR1 C>T	22	41077400	41077400	C	T	MCHR1	c.530C>T	NM_005297.4	NP_005288.4:p.(Pro177Leu)	NC_000022.10:g.41077400C>T	VUS	1 lab	4c2c0c1885
6:56351972 DST G>C	6	56351972	56351972	G	C	DST	c.14620C>G	NM_001144769.5	NP_001138241.1:p.(Leu4874Val)	NC_000006.11:g.56351972G>C	(Likely) benign	1 lab	4c2ff39d9f
12:57891961 MARS1 G>A	12	57891961	57891961	G	A	MARS1	c.792G>A	NM_004990.4	NP_004981.2:p.(Arg264=)	NC_000012.11:g.57891961G>A	(Likely) benign	1 lab	4c302173bf
4:55144306 MISSING C>Alt too long to show for this DUP	4	55144306	55185954	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.55144307_55185954dup	VUS	1 lab	4c34611e85
1:63070414 ANGPTL3 C>A	1	63070414	63070414	C	A	ANGPTL3	c.1309C>A	NM_014495.4	NP_055310.1:p.(Gln437Lys)	NC_000001.10:g.63070414C>A	(Likely) benign	1 lab	4c35c386d9
15:48758016 FBN1 C>T	15	48758016	48758016	C	T	FBN1	c.4787G>A	NM_000138.5	NP_000129.3:p.(Arg1596Gln)	NC_000015.9:g.48758016C>T	VUS	1 lab	4c391daa9d
21:47410330 COL6A1 C>T	21	47410330	47410330	C	T	COL6A1	c.996C>T	NM_001848.3	NP_001839.2:p.(Gly332=)	NC_000021.8:g.47410330C>T	VUS	1 lab	4c392b385b
9:136220700 SURF1 A>C	9	136220700	136220700	A	C	SURF1	c.419T>G	NM_003172.4	NP_003163.1:p.(Val140Gly)	NC_000009.11:g.136220700A>C	VUS	1 lab	4c3bc1b61e
6:32035634 TNXB G>A	6	32035634	32035634	G	A	TNXB	c.6348C>T	NM_019105.8	NP_061978.6:p.(Thr2116=)	NC_000006.11:g.32035634G>A	(Likely) benign	1 lab	4c3d86817d
9:107581088 ABCA1 A>G	9	107581088	107581088	A	G	ABCA1	c.3318T>C	NM_005502.4	NP_005493.2:p.(His1106=)	NC_000009.11:g.107581088A>G	(Likely) benign	1 lab	4c3ee112fa
18:47093864 LIPG C>T	18	47093864	47093864	C	T	LIPG	c.332C>T	NM_006033.4	NP_006024.1:p.(Thr111Ile)	NC_000018.9:g.47093864C>T	(Likely) benign	1 lab	4c423b77a5
11:76915167 MYO7A C>T	11	76915167	76915167	C	T	MYO7A	c.5373C>T	NM_000260.4	NP_000251.3:p.(Ser1791=)	NC_000011.9:g.76915167C>T	(Likely) benign	1 lab	4c42e140bc
14:102506966 DYNC1H1 C>T	14	102506966	102506966	C	T	DYNC1H1	c.11897C>T	NM_001376.5	NP_001367.2:p.(Pro3966Leu)	NC_000014.8:g.102506966C>T	VUS	1 lab	4c43eb0e39
11:116707792 APOA1 T>C	11	116707792	116707792	T	C	APOA1	c.125A>G	NM_001318017.2	NP_001304946.1:p.(Tyr42Cys)	NC_000011.9:g.116707792T>C	VUS	1 lab	4c45cb4ee0
10:129481478 MISSING G>Alt too long to show for this DUP	10	129481478	129708476	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.129481480_129708476dup	VUS	1 lab	4c45f47a56
8:59409601 CYP7A1 A>G	8	59409601	59409601	A	G	CYP7A1	c.470T>C	NM_000780.4	NP_000771.2:p.(Val157Ala)	NC_000008.10:g.59409601A>G	VUS	1 lab	4c478c1c91
8:68062182 CSPP1 CTTTTT>C	8	68062182	68062206	CTTTTT	C	CSPP1	c.1079-4057_1079-4053del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062202_68062206del	(Likely) benign	1 lab	4c48798fcd
15:45403797 DUOX2 G>C	15	45403797	45403797	G	C	DUOX2	c.514-14C>G	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45403797G>C	(Likely) benign	1 lab	4c493a9fdf
1:11907755 NPPA A>G	1	11907755	11907755	A	G	NPPA	c.-14T>C	NM_006172.4	NP_006163.1:p.?	NC_000001.10:g.11907755A>G	(Likely) benign	1 lab	4c4981632d
15:67482525 SMAD3 T>C	15	67482525	67482525	T	C	SMAD3	c.1155-226T>C	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67482525T>C	(Likely) benign	1 lab	4c4ae042ed
19:55370565 KIR3DL2 A>T	19	55370565	55370565	A	T	KIR3DL2	c.981A>T	NM_006737.4	NP_006728.2:p.(Thr327=)	NC_000019.9:g.55370565A>T	(Likely) benign	1 lab	4c4b12f780
11:116701905 APOC3 A>ATT	11	116701905	116701908	A	ATT	APOC3	c.179+295_179+296dup	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701907_116701908dup	(Likely) benign	1 lab	4c4b5acaf4
8:144999015 PLEC C>T	8	144999015	144999015	C	T	PLEC	c.5493G>A	NM_201380.4	NP_958782.1:p.(Leu1831=)	NC_000008.10:g.144999015C>T	(Likely) benign	1 lab	4c503fde68
9:107546586 ABCA1 AC>A	9	107546586	107546587	AC	A	ABCA1	c.*9del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546587del	VUS	1 lab	4c53425091
X:106882531 PRPS1 A>C	X	106882531	106882531	A	C	PRPS1	c.129A>C	NM_002764.4	NP_002755.1:p.(Glu43Asp)	NC_000023.10:g.106882531A>C	(Likely) pathogenic	1 lab	4c53d19840
9:107593949 ABCA1 G>A	9	107593949	107593949	G	A	ABCA1	c.1669C>T	NM_005502.4	NP_005493.2:p.(Arg557Ter)	NC_000009.11:g.107593949G>A	(Likely) pathogenic	1 lab	4c57306f06
7:128488361 FLNC GCCT>G	7	128488361	128488370	GCCT	G	FLNC	c.4580+246_4581-245del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488368_128488370del	(Likely) benign	1 lab	4c5eb9fe71
16:67974097 LCAT TGGGCAGG>T	16	67974097	67974104	TGGGCAGG	T	LCAT	c.1026_1032del	NM_000229.2	NP_000220.1:p.(Leu343ArgfsTer65)	NC_000016.9:g.67974098_67974104del	VUS	1 lab	4c600708da
9:72131587 APBA1 G>A	9	72131587	72131587	G	A	APBA1	c.540C>T	NM_001163.4	NP_001154.2:p.(Asp180=)	NC_000009.11:g.72131587G>A	(Likely) benign	1 lab	4c61387e5e
12:133220025 POLE C>T	12	133220025	133220025	C	T	POLE	c.4412G>A	NM_006231.4	NP_006222.2:p.(Arg1471His)	NC_000012.11:g.133220025C>T	(Likely) benign	1 lab	4c6186eb0d
8:42852693 HOOK3 G>A	8	42852693	42852693	G	A	HOOK3	c.1533G>A	NM_032410.4	NP_115786.1:p.(Arg511=)	NC_000008.10:g.42852693G>A	(Likely) benign	1 lab	4c62b6445e
16:67974134 LCAT A>G	16	67974134	67974134	A	G	LCAT	c.996T>C	NM_000229.2	NP_000220.1:p.(Gly332=)	NC_000016.9:g.67974134A>G	(Likely) benign	1 lab	4c65107de4
1:103496805 COL11A1 G>GAAAA	1	103496805	103496818	G	GAAAA	COL11A1	c.652-9_652-6dup	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496815_103496818dup	(Likely) benign	1 lab	4c65a95606
15:44858512 SPG11 GA>G	15	44858512	44858515	GA	G	SPG11	c.6755-10del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44858515del	(Likely) benign	1 lab	4c669449e7
X:148570604 MISSING G>Alt too long to show for this DUP	X	148570604	148609795	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.148570605_148609795dup	VUS	1 lab	4c67ab8fd9
19:11199916 LDLR C>A	19	11199916	11199916	C	A	LDLR				NC_000019.9:g.11199916C>A	(Likely) benign	1 lab	4c682bf875
6:100841484 SIM1 C>T	6	100841484	100841484	C	T	SIM1	c.1449G>A	NM_005068.3	NP_005059.2:p.(Gln483=)	NC_000006.11:g.100841484C>T	(Likely) benign	1 lab	4c6893b7c4
1:236897665 ACTN2 G>A	1	236897665	236897665	G	A	ACTN2	c.698-1270G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897665G>A	(Likely) benign	1 lab	4c6ac78473
10:53921911 PRKG1 A>G	10	53921911	53921911	A	G	PRKG1	c.1031+188A>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53921911A>G	(Likely) benign	1 lab	4c6c394ebe
17:36486070 GPR179 G>T	17	36486070	36486070	G	T	GPR179	c.3382C>A	NM_001004334.4	NP_001004334.3:p.(Arg1128=)	NC_000017.10:g.36486070G>T	(Likely) benign	1 lab	4c6c69dc52
6:99365543 FBXL4 G>A	6	99365543	99365543	G	A	FBXL4	c.565C>T	NM_012160.5	NP_036292.2:p.(Arg189Cys)	NC_000006.11:g.99365543G>A	VUS	1 lab	4c6ec2a0c3
2:179606515 TTN CT>C	2	179606515	179606519	CT	C	TTN	c.11444del	NM_001267550.2	NP_001254479.2:p.(Lys3815ArgfsTer17)	NC_000002.11:g.179606519del	(Likely) pathogenic	1 lab	4c6f0bff72
2:44051566 ABCG5 G>C	2	44051566	44051566	G	C	ABCG5	c.910C>G	NM_022436.3	NP_071881.1:p.(Leu304Val)	NC_000002.11:g.44051566G>C	(Likely) benign	1 lab	4c702ed6ca
2:63667017 WDPCP T>C	2	63667017	63667017	T	C	WDPCP	c.385-12A>G	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63667017T>C	(Likely) benign	1 lab	4c70afa4da
2:179614113 TTN A>G	2	179614113	179614113	A	G	TTN	c.13014T>C	NM_133379.5	NP_596870.2:p.(His4338=)	NC_000002.11:g.179614113A>G	(Likely) benign	1 lab	4c8cfbb6dd
20:744308 SLC52A3 T>C	20	744308	744308	T	C	SLC52A3	c.907A>G	NM_033409.4	NP_212134.3:p.(Ile303Val)	NC_000020.10:g.744308T>C	(Likely) benign	1 lab	4c7863abfb
7:107531729 DLD G>A	7	107531729	107531729	G	A	DLD	c.34G>A	NM_000108.5	NP_000099.2:p.(Ala12Thr)	NC_000007.13:g.107531729G>A	(Likely) benign	1 lab	4c79da4f57
17:34822463 MISSING Ref too long to show for this DEL>C	17	34822463	36404555	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.34822465_36404555del	(Likely) pathogenic	1 lab	4c7b4ff9fa
14:105246407 AKT1 G>C	14	105246407	105246407	G	C	AKT1	c.175+18C>G	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105246407G>C	(Likely) benign	1 lab	4c7c84f301
1:180199727 LHX4 T>C	1	180199727	180199727	T	C	LHX4	c.63T>C	NM_033343.4	NP_203129.1:p.(Gly21=)	NC_000001.10:g.180199727T>C	(Likely) benign	1 lab	4c7caa5128
8:41798487 KAT6A C>CG	8	41798487	41798491	C	CG	KAT6A	c.2911dup	NM_006766.5	NP_006757.2:p.(Arg971ProfsTer5)	NC_000008.10:g.41798491dup	(Likely) pathogenic	1 lab	4c814809cf
19:55320308 KIR2DL4 C>CAT	19	55320308	55320309	C	CAT	KIR2DL4	c.676_677insAT	NM_001080772.2	NP_001074241.1:p.(Pro226HisfsTer20)	NC_000019.9:g.55320308_55320309insAT	(Likely) benign	1 lab	4c814b7499
22:50425988 MISSING Ref too long to show for this DEL>T	22	50425988	51219009	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.50425989_51219009del	(Likely) pathogenic	1 lab	4c829260bd
6:32041552 TNXB ACCACCTGGGGCTGCCCGT>A	6	32041552	32041572	ACCACCTGGGGCTGCCCGT	A	TNXB	c.4535_4552del	NM_019105.8	NP_061978.6:p.(Asp1512_Val1517del)	NC_000006.11:g.32041555_32041572del	(Likely) pathogenic	1 lab	4c8912ff9e
2:179614589 TTN A>T	2	179614589	179614589	A	T	TTN	c.12538T>A	NM_133379.5	NP_596870.2:p.(Cys4180Ser)	NC_000002.11:g.179614589A>T	VUS	1 lab	4c8ae02581
1:214549699 PTPN14 T>C	1	214549699	214549699	T	C	PTPN14	c.2770A>G	NM_005401.5	NP_005392.2:p.(Ile924Val)	NC_000001.10:g.214549699T>C	(Likely) benign	1 lab	4c8b5ca341
8:24811021 NEFL G>A	8	24811021	24811021	G	A	NEFL	c.1457C>T	NM_006158.5	NP_006149.2:p.(Ala486Val)	NC_000008.10:g.24811021G>A	(Likely) benign	1 lab	4c8ca2ff58
X:135570191 MISSING T>Alt too long to show for this DUP	X	135570191	135589397	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.135570192_135589397dup	VUS	1 lab	4c8cfaf94d
11:47356326 MYBPC3 C>A	11	47356326	47356326	C	A	MYBPC3	c.2905+267G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356326C>A	(Likely) benign	1 lab	4c8e42d5e4
14:78021842 SPTLC2 C>T	14	78021842	78021842	C	T	SPTLC2	c.977G>A	NM_004863.4	NP_004854.1:p.(Arg326His)	NC_000014.8:g.78021842C>T	VUS	1 lab	4c90e0398d
2:238252972 COL6A3 C>G	2	238252972	238252972	C	G	COL6A3	c.7668+21G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238252972C>G	(Likely) benign	1 lab	4c91b22a93
10:103825506 HPS6 T>A	10	103825506	103825506	T	A	HPS6	c.275T>A	NM_024747.6	NP_079023.2:p.(Leu92Gln)	NC_000010.10:g.103825506T>A	VUS	1 lab	4c93fd85bc
17:48276615 COL1A1 C>CG	17	48276615	48276616	C	CG	COL1A1	c.442_443insC	NM_000088.4	NP_000079.2:p.(Gly148AlafsTer21)	NC_000017.10:g.48276615_48276616insG	(Likely) pathogenic	1 lab	4c96b1b324
6:135768307 AHI1 G>C	6	135768307	135768307	G	C	AHI1	c.1627-9C>G	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135768307G>C	(Likely) benign	1 lab	4c98965385
8:94768096 TMEM67 T>G	8	94768096	94768096	T	G	TMEM67	c.312+2T>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94768096T>G	(Likely) pathogenic	1 lab	4c9a2f2bfe
18:47109693 LIPG G>A	18	47109693	47109693	G	A	LIPG	c.1158-233G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47109693G>A	(Likely) benign	1 lab	4c9e013251
3:123419726 MYLK C>T	3	123419726	123419726	C	T	MYLK	c.2589G>A	NM_053025.4	NP_444253.3:p.(Glu863=)	NC_000003.11:g.123419726C>T	(Likely) benign	1 lab	4ca0784ca0
7:128485177 FLNC T>C	7	128485177	128485177	T	C	FLNC	c.3658T>C	NM_001458.5	NP_001449.3:p.(Phe1220Leu)	NC_000007.13:g.128485177T>C	VUS	1 lab	4ca1bbc317
12:52309067 ACVRL1 G>A	12	52309067	52309067	G	A	ACVRL1	c.831G>A	NM_000020.3	NP_000011.2:p.(Thr277=)	NC_000012.11:g.52309067G>A	(Likely) benign	1 lab	4ca22b070a
9:20986283 FOCAD G>T	9	20986283	20986283	G	T	FOCAD	c.4729-4G>T	NM_017794.5	NP_060264.4:p.?	NC_000009.11:g.20986283G>T	(Likely) benign	1 lab	4ca4eaf628
2:189854038 COL3A1 T>C	2	189854038	189854038	T	C	COL3A1	c.637-84T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189854038T>C	(Likely) benign	1 lab	4ca54e0646
12:21377692 SLCO1B1 T>C	12	21377692	21377692	T	C	SLCO1B1	c.1784T>C	NM_006446.5	NP_006437.3:p.(Ile595Thr)	NC_000012.11:g.21377692T>C	(Likely) benign	1 lab	4ca55d2e7a
1:55505500 PCSK9 C>T	1	55505500	55505500	C	T	PCSK9	c.-11C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505500C>T	VUS	1 lab	4ca7d96f73
9:139412760 NOTCH1 C>G	9	139412760	139412760	C	G	NOTCH1	c.1100-16G>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139412760C>G	(Likely) benign	1 lab	4ca872cc38
17:63526198 AXIN2 C>T	17	63526198	63526198	C	T	AXIN2	c.2428G>A	NM_004655.4	NP_004646.3:p.(Asp810Asn)	NC_000017.10:g.63526198C>T	(Likely) benign	1 lab	4ca9d3f8b5
11:116661037 APOA5 A>G	11	116661037	116661037	A	G	APOA5	c.908T>C	NM_052968.5	NP_443200.2:p.(Ile303Thr)	NC_000011.9:g.116661037A>G	VUS	1 lab	4cab40fc4d
17:46670571 HOXB5 C>T	17	46670571	46670571	C	T	HOXB5	c.474G>A	NM_002147.4	NP_002138.1:p.(Gln158=)	NC_000017.10:g.46670571C>T	(Likely) benign	1 lab	4cadb7f05d
3:9482256 SETD5 TG>T	3	9482256	9482257	TG	T	SETD5	c.391del	NM_001349451.2	NP_001336380.1:p.(Val131TyrfsTer22)	NC_000003.11:g.9482257del	(Likely) pathogenic	1 lab	4caf69daf9
5:37125419 CPLANE1 A>G	5	37125419	37125419	A	G	CPLANE1	c.8723T>C	NM_023073.4	NP_075561.3:p.(Met2908Thr)	NC_000005.9:g.37125419A>G	VUS	1 lab	4cafe7f42e
12:125296362 SCARB1 G>A	12	125296362	125296362	G	A	SCARB1	c.726+54C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125296362G>A	(Likely) benign	1 lab	4cb242f3c2
15:28263654 OCA2 C>G	15	28263654	28263654	C	G	OCA2	c.696G>C	NM_000275.3	NP_000266.2:p.(Leu232=)	NC_000015.9:g.28263654C>G	(Likely) benign	1 lab	4cb3d49410
3:145790472 PLOD2 G>A	3	145790472	145790472	G	A	PLOD2	c.1744-20C>T	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145790472G>A	(Likely) benign	1 lab	4cb6d5cdb5
18:28671095 DSC2 G>A	18	28671095	28671095	G	A	DSC2	c.370C>T	NM_004949.5	NP_004940.1:p.(His124Tyr)	NC_000018.9:g.28671095G>A	(Likely) benign	1 lab	4cc13d5d8b
12:38714853 ALG10B A>C	12	38714853	38714853	A	C	ALG10B	c.1260A>C	NM_001013620.4	NP_001013642.2:p.(Leu420Phe)	NC_000012.11:g.38714853A>C	(Likely) benign	1 lab	4cc21bad2c
19:11095984 SMARCA4 C>T	19	11095984	11095984	C	T	SMARCA4	c.258C>T	NM_001128844.3	NP_001122316.1:p.(Asp86=)	NC_000019.9:g.11095984C>T	(Likely) benign	1 lab	4cc6536b1d
7:151877818 KMT2C GC>G	7	151877818	151877819	GC	G	KMT2C	c.7126del	NM_170606.3	NP_733751.2:p.(Ala2376GlnfsTer6)	NC_000007.13:g.151877819del	(Likely) pathogenic	1 lab	4cc7398e5b
15:23891652 MAGEL2 G>A	15	23891652	23891652	G	A	MAGEL2	c.1238C>T	NM_019066.5	NP_061939.3:p.(Pro413Leu)	NC_000015.9:g.23891652G>A	VUS	1 lab	4cc901e2f9
11:116661599 APOA5 C>T	11	116661599	116661599	C	T	APOA5	c.346G>A	NM_052968.5	NP_443200.2:p.(Glu116Lys)	NC_000011.9:g.116661599C>T	VUS	1 lab	4cca05620f
10:126686659 CTBP2 G>A	10	126686659	126686659	G	A	CTBP2	c.2059C>T	NM_022802.3	NP_073713.2:p.(Arg687Trp)	NC_000010.10:g.126686659G>A	(Likely) benign	1 lab	4ccbf89c9a
10:73572300 CDH23 T>C	10	73572300	73572300	T	C	CDH23	c.9444T>C	NM_022124.6	NP_071407.4:p.(His3148=)	NC_000010.10:g.73572300T>C	(Likely) benign	1 lab	4ccc124482
11:68673571 IGHMBP2 C>T	11	68673571	68673571	C	T	IGHMBP2	c.121C>T	NM_002180.3	NP_002171.2:p.(Gln41Ter)	NC_000011.9:g.68673571C>T	(Likely) pathogenic	1 lab	4cccbc6612
2:179430679 TTN C>G	2	179430679	179430679	C	G	TTN	c.80180G>C	NM_001267550.2	NP_001254479.2:p.(Arg26727Thr)	NC_000002.11:g.179430679C>G	VUS	1 lab	4cce689832
9:21206569 IFNA10 C>A	9	21206569	21206569	C	A	IFNA10	c.528G>T	NM_002171.2	NP_002162.1:p.(Ser176=)	NC_000009.11:g.21206569C>A	(Likely) benign	1 lab	4ccf5934f0
15:67430765 SMAD3 C>T	15	67430765	67430765	C	T	SMAD3	c.207-26468C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67430765C>T	(Likely) benign	1 lab	4cd08a1d19
6:112528356 LAMA4 A>G	6	112528356	112528356	A	G	LAMA4	c.298-10T>C	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112528356A>G	(Likely) benign	1 lab	4cd0e1e77f
4:178260976 MISSING Ref too long to show for this DEL>A	4	178260976	178334930	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.178260978_178334930del	VUS	1 lab	4cd7e787c2
1:161276539 MPZ A>T	1	161276539	161276539	A	T	MPZ	c.407T>A	NM_000530.8	NP_000521.2:p.(Val136Glu)	NC_000001.10:g.161276539A>T	(Likely) pathogenic	1 lab	4cd82c5ab2
2:25375712 MISSING Ref too long to show for this DEL>T	2	25375712	25504412	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.25375715_25504412del	(Likely) pathogenic	1 lab	4cd862788a
1:103347301 COL11A1 T>C	1	103347301	103347301	T	C	COL11A1	c.5028A>G	NM_080629.3	NP_542196.2:p.(Pro1676=)	NC_000001.10:g.103347301T>C	(Likely) benign	1 lab	4cd8e61578
3:184039304 EIF4G1 A>G	3	184039304	184039304	A	G	EIF4G1	c.932A>G	NM_182917.4	NP_886553.3:p.(Tyr311Cys)	NC_000003.11:g.184039304A>G	(Likely) benign	1 lab	4cd9594f23
5:131927678 RAD50 G>A	5	131927678	131927678	G	A	RAD50	c.1745G>A	NM_005732.4	NP_005723.2:p.(Ser582Asn)	NC_000005.9:g.131927678G>A	(Likely) benign	1 lab	4cde2b984e
12:21392142 SLCO1B1 T>G	12	21392142	21392142	T	G	SLCO1B1	c.*19T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21392142T>G	(Likely) benign	1 lab	4cdec4ec1b
3:38592928 SCN5A C>T	3	38592928	38592928	C	T	SCN5A	c.4935G>A	NM_198056.3	NP_932173.1:p.(Thr1645=)	NC_000003.11:g.38592928C>T	(Likely) benign	1 lab	4ce41c8095
12:21375282 SLCO1B1 G>A	12	21375282	21375282	G	A	SLCO1B1	c.1731G>A	NM_006446.5	NP_006437.3:p.(Met577Ile)	NC_000012.11:g.21375282G>A	(Likely) benign	1 lab	4ce6df837a
11:108178729 ATM G>A	11	108178729	108178729	G	A	ATM	c.5762+18G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108178729G>A	(Likely) benign	1 lab	4ce70ef8de
2:21234018 APOB C>T	2	21234018	21234018	C	T	APOB	c.5722G>A	NM_000384.3	NP_000375.3:p.(Asp1908Asn)	NC_000002.11:g.21234018C>T	(Likely) benign	1 lab	4cec61eacf
17:39973027 FKBP10 T>A	17	39973027	39973027	T	A	FKBP10	c.246-283T>A	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39973027T>A	(Likely) benign	1 lab	4cec82b35b
X:123003508 MISSING G>Alt too long to show for this DUP	X	123003508	123412529	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.123003512_123412529dup	(Likely) pathogenic	1 lab	4cee5b1d24
1:235922861 LYST C>T	1	235922861	235922861	C	T	LYST	c.6292G>A	NM_001301365.1	NP_001288294.1:p.(Ala2098Thr)	NC_000001.10:g.235922861C>T	(Likely) benign	1 lab	4cf334813c
12:111992031 ATXN2 TA>T	12	111992031	111992045	TA	T	ATXN2	c.289-11del	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.111992045del	(Likely) benign	1 lab	4cf43838f4
2:1544450 TPO C>T	2	1544450	1544450	C	T	TPO	c.2703C>T	NM_001206744.2	NP_001193673.1:p.(Ala901=)	NC_000002.11:g.1544450C>T	(Likely) benign	1 lab	4cf75c0632
2:189856239 COL3A1 T>C	2	189856239	189856239	T	C	COL3A1	c.879T>C	NM_000090.4	NP_000081.2:p.(Asn293=)	NC_000002.11:g.189856239T>C	(Likely) benign	1 lab	4cf76b8233
20:230514 MISSING Ref too long to show for this DEL>A	20	230514	502938	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.230516_502938del	(Likely) pathogenic	1 lab	4cf80f1fe0
14:21868156 CHD8 CT>C	14	21868156	21868157	CT	C	CHD8	c.4800del	NM_001170629.2	NP_001164100.1:p.(Gly1602ValfsTer13)	NC_000014.8:g.21868157del	(Likely) pathogenic	1 lab	4cf85db85a
10:47087498 NPY4R C>T	10	47087498	47087498	C	T	NPY4R	c.715C>T	NM_005972.6	NP_005963.4:p.(Arg239Trp)	NC_000010.10:g.47087498C>T	(Likely) benign	1 lab	4cf87017df
7:5754686 RNF216 T>C	7	5754686	5754686	T	C	RNF216	c.1831A>G	NM_207111.4	NP_996994.1:p.(Lys611Glu)	NC_000007.13:g.5754686T>C	VUS	1 lab	4cfa917d2e
20:62654101 PRPF6 C>G	20	62654101	62654101	C	G	PRPF6	c.1648-9C>G	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62654101C>G	(Likely) benign	1 lab	4cfc78b95b
8:144296978 GPIHBP1 C>T	8	144296978	144296978	C	T	GPIHBP1	c.272C>T	NM_178172.6	NP_835466.2:p.(Thr91Ile)	NC_000008.10:g.144296978C>T	VUS	1 lab	4cfe59ad83
16:2138240 TSC2 G>A	16	2138240	2138240	G	A	TSC2	c.5173G>A	NM_000548.5	NP_000539.2:p.(Val1725Met)	NC_000016.9:g.2138240G>A	VUS	1 lab	4d012a41e0
4:106359156 PPA2 T>C	4	106359156	106359156	T	C	PPA2	c.479A>G	NM_176869.3	NP_789845.1:p.(Asn160Ser)	NC_000004.11:g.106359156T>C	VUS	1 lab	4d0625d206
11:45931800 PEX16 G>T	11	45931800	45931800	G	T	PEX16	c.*5C>A	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45931800G>T	(Likely) benign	1 lab	4d06dffc58
8:19805851 LPL G>A	8	19805851	19805851	G	A	LPL	c.249G>A	NM_000237.3	NP_000228.1:p.(Thr83=)	NC_000008.10:g.19805851G>A	VUS	1 lab	4d1b28de0c
19:55816059 BRSK1 T>A	19	55816059	55816059	T	A	BRSK1	c.1488T>A	NM_032430.2	NP_115806.1:p.(Ser496Arg)	NC_000019.9:g.55816059T>A	VUS	1 lab	4d07a35ed2
19:11221406 LDLR G>A	19	11221406	11221406	G	A	LDLR	c.1019G>A	NM_000527.5	NP_000518.1:p.(Cys340Tyr)	NC_000019.9:g.11221406G>A	(Likely) pathogenic	1 lab	4d0820fde4
5:125930852 ALDH7A1 T>C	5	125930852	125930852	T	C	ALDH7A1	c.39A>G	NM_001182.5	NP_001173.2:p.(Ala13=)	NC_000005.9:g.125930852T>C	(Likely) benign	1 lab	4d0989de05
2:21231300 APOB G>T	2	21231300	21231300	G	T	APOB	c.8440C>A	NM_000384.3	NP_000375.3:p.(Leu2814Ile)	NC_000002.11:g.21231300G>T	VUS	1 lab	4d0ae41ab2
3:37783209 ITGA9 C>T	3	37783209	37783209	C	T	ITGA9	c.2235-12C>T	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37783209C>T	(Likely) benign	1 lab	4d0e01a6a9
16:88495567 ZNF469 C>T	16	88495567	88495567	C	T	ZNF469	c.1689C>T	NM_001367624.2	NP_001354553.1:p.(Phe563=)	NC_000016.9:g.88495567C>T	(Likely) benign	1 lab	4d1275bc8d
16:921182 LMF1 C>A	16	921182	921182	C	A	LMF1	c.658G>T	NM_001352018.2	NP_001338947.1:p.(Ala220Ser)	NC_000016.9:g.921182C>A	VUS	1 lab	4d1379c8fa
10:62038644 ANK3 G>T	10	62038644	62038644	G	T	ANK3	c.316-14C>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.62038644G>T	(Likely) benign	1 lab	4d16991633
2:152402515 NEB TAA>T	2	152402515	152402532	TAA	T	NEB	c.20467-5_20467-4del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402531_152402532del	(Likely) benign	1 lab	4d1c832c9c
9:2719095 KCNV2 GGTGA>G	9	2719095	2719101	GGTGA	G	KCNV2	c.1356+3_1356+6del	NM_133497.4	NP_598004.1:p.?	NC_000009.11:g.2719098_2719101del	(Likely) pathogenic	1 lab	4d1cbe8e73
11:1018275 MUC6 G>A	11	1018275	1018275	G	A	MUC6	c.4526C>T	NM_005961.3	NP_005952.2:p.(Thr1509Ile)	NC_000011.9:g.1018275G>A	(Likely) benign	1 lab	4d1dea40dd
18:77171518 NFATC1 G>A	18	77171518	77171518	G	A	NFATC1	c.1226+17G>A	NM_001278669.2	NP_001265598.1:p.?	NC_000018.9:g.77171518G>A	(Likely) benign	1 lab	4d1e1ae340
19:13003127 GCDH A>ACCC	19	13003127	13003129	A	ACCC	GCDH	c.334+136_334+137insCCC	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13003128_13003129insCCC	(Likely) benign	1 lab	4d20ee59da
10:47087071 NPY4R G>A	10	47087071	47087071	G	A	NPY4R	c.288G>A	NM_005972.6	NP_005963.4:p.(Pro96=)	NC_000010.10:g.47087071G>A	(Likely) benign	1 lab	4d21b95f93
3:38892017 SCN11A C>T	3	38892017	38892017	C	T	SCN11A	c.4282G>A	NM_014139.3	NP_054858.2:p.(Gly1428Ser)	NC_000003.11:g.38892017C>T	VUS	1 lab	4d220cff71
19:18900044 COMP G>T	19	18900044	18900044	G	T	COMP	c.453C>A	NM_000095.3	NP_000086.2:p.(Cys151Ter)	NC_000019.9:g.18900044G>T	(Likely) benign	1 lab	4d27ad10de
12:2558176 CACNA1C C>T	12	2558176	2558176	C	T	CACNA1C	c.512C>T	NM_199460.4	NP_955630.3:p.(Thr171Met)	NC_000012.11:g.2558176C>T	VUS	1 lab	4d281532e6
19:11233885 LDLR AC>A	19	11233885	11233887	AC	A	LDLR	c.2178del	NM_000527.5	NP_000518.1:p.(Val727SerfsTer3)	NC_000019.9:g.11233887del	(Likely) pathogenic	1 lab	4d29ff92f4
9:107566877 ABCA1 C>A	9	107566877	107566877	C	A	ABCA1	c.4559+30G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107566877C>A	(Likely) benign	1 lab	4d2a5e281d
18:47095870 LIPG G>A	18	47095870	47095870	G	A	LIPG	c.523G>A	NM_006033.4	NP_006024.1:p.(Ala175Thr)	NC_000018.9:g.47095870G>A	VUS	1 lab	4d2d7eb6b0
18:2724930 SMCHD1 A>T	18	2724930	2724930	A	T	SMCHD1	c.2637A>T	NM_015295.3	NP_056110.2:p.(Lys879Asn)	NC_000018.9:g.2724930A>T	(Likely) benign	1 lab	4d2f745857
15:28518126 HERC2 G>A	15	28518126	28518126	G	A	HERC2	c.825C>T	NM_004667.6	NP_004658.3:p.(Thr275=)	NC_000015.9:g.28518126G>A	(Likely) benign	1 lab	4d3750ad0e
2:179457773 TTN A>G	2	179457773	179457773	A	G	TTN	c.59073T>C	NM_001267550.2	NP_001254479.2:p.(Asp19691=)	NC_000002.11:g.179457773A>G	(Likely) benign	1 lab	4d380be37b
8:19809220 LPL G>A	8	19809220	19809220	G	A	LPL	c.250-60G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809220G>A	(Likely) benign	1 lab	4d3b9970f4
17:1564028 PRPF8 G>A	17	1564028	1564028	G	A	PRPF8	c.4602C>T	NM_006445.4	NP_006436.3:p.(Phe1534=)	NC_000017.10:g.1564028G>A	(Likely) benign	1 lab	4d3ca89c4f
3:37038193 MLH1 G>A	3	37038193	37038193	G	A	MLH1	c.200G>A	NM_000249.4	NP_000240.1:p.(Gly67Glu)	NC_000003.11:g.37038193G>A	(Likely) pathogenic	1 lab	4d58ae69c1
14:45658415 FANCM G>A	14	45658415	45658415	G	A	FANCM	c.5190G>A	NM_020937.4	NP_065988.1:p.(Gln1730=)	NC_000014.8:g.45658415G>A	(Likely) benign	1 lab	4d435ed95d
16:921347 LMF1 G>A	16	921347	921347	G	A	LMF1	c.499-6C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921347G>A	(Likely) benign	1 lab	4d459813b2
2:44047072 ABCG5 A>ACAAGCACC	2	44047072	44047081	A	ACAAGCACC	ABCG5	c.1623_1630dup	NM_022436.3	NP_071881.1:p.(Val544GlyfsTer36)	NC_000002.11:g.44047074_44047081dup	(Likely) pathogenic	1 lab	4d46b6b121
11:65637705 EFEMP2 A>G	11	65637705	65637705	A	G	EFEMP2	c.494T>C	NM_016938.5	NP_058634.4:p.(Ile165Thr)	NC_000011.9:g.65637705A>G	VUS	1 lab	4d473db54a
2:179435405 TTN G>A	2	179435405	179435405	G	A	TTN	c.75454C>T	NM_001267550.2	NP_001254479.2:p.(Leu25152Phe)	NC_000002.11:g.179435405G>A	VUS	1 lab	4d47e39f0f
14:21813290 RPGRIP1 A>G	14	21813290	21813290	A	G	RPGRIP1	c.3551A>G	NM_020366.4	NP_065099.3:p.(Gln1184Arg)	NC_000014.8:g.21813290A>G	(Likely) benign	1 lab	4d49223177
17:7807250 CHD3 A>G	17	7807250	7807250	A	G	CHD3	c.4012A>G	NM_001005271.3	NP_001005271.2:p.(Met1338Val)	NC_000017.10:g.7807250A>G	VUS	1 lab	4d49c5ae3c
19:54631436 PRPF31 C>T	19	54631436	54631436	C	T	PRPF31	c.946-12C>T	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54631436C>T	(Likely) benign	1 lab	4d4cf1a93a
5:180056986 FLT4 T>C	5	180056986	180056986	T	C	FLT4	c.633A>G	NM_182925.5	NP_891555.2:p.(Gly211=)	NC_000005.9:g.180056986T>C	(Likely) benign	1 lab	4d5073f3ed
7:94034512 COL1A2 G>T	7	94034512	94034512	G	T	COL1A2	c.434G>T	NM_000089.4	NP_000080.2:p.(Gly145Val)	NC_000007.13:g.94034512G>T	(Likely) pathogenic	1 lab	4d547033ca
2:44065778 ABCG5 C>A	2	44065778	44065778	C	A	ABCG5	c.41G>T	NM_022436.3	NP_071881.1:p.(Gly14Val)	NC_000002.11:g.44065778C>A	VUS	1 lab	4d5509aa10
11:2606488 KCNQ1 G>A	11	2606488	2606488	G	A	KCNQ1	c.1079G>A	NM_000218.3	NP_000209.2:p.(Arg360Lys)	NC_000011.9:g.2606488G>A	VUS	1 lab	4d56cc5478
19:12600910 MISSING T>Alt too long to show for this DUP	19	12600910	12841773	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.12600912_12841773dup	VUS	1 lab	4d5c0b7b22
16:89858323 FANCA G>A	16	89858323	89858323	G	A	FANCA	c.1225+12C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89858323G>A	(Likely) benign	1 lab	4d5d405d02
6:70966509 COL9A1 C>G	6	70966509	70966509	C	G	COL9A1	c.736G>C	NM_001377289.1	NP_001364218.1:p.(Asp246His)	NC_000006.11:g.70966509C>G	(Likely) benign	1 lab	4d5ec1954e
5:149324135 PDE6A G>A	5	149324135	149324135	G	A	PDE6A	c.102C>T	NM_000440.3	NP_000431.2:p.(Ser34=)	NC_000005.9:g.149324135G>A	(Likely) benign	1 lab	4d61107f06
7:128486804 FLNC C>T	7	128486804	128486804	C	T	FLNC	c.4133C>T	NM_001458.5	NP_001449.3:p.(Ala1378Val)	NC_000007.13:g.128486804C>T	VUS	1 lab	4d638ce8c2
4:16168246 TAPT1 C>T	4	16168246	16168246	C	T	TAPT1	c.1474+10G>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16168246C>T	(Likely) benign	1 lab	4d63b2a2c9
16:15876262 MYH11 T>C	16	15876262	15876262	T	C	MYH11	c.706A>G	NM_002474.3	NP_002465.1:p.(Asn236Asp)	NC_000016.9:g.15876262T>C	VUS	1 lab	4d64171ac7
19:11224312 LDLR A>G	19	11224312	11224312	A	G	LDLR	c.1460A>G	NM_000527.5	NP_000518.1:p.(Asn487Ser)	NC_000019.9:g.11224312A>G	VUS	1 lab	4d64f22a91
19:1495273 REEP6 C>T	19	1495273	1495273	C	T	REEP6	c.116-20C>T	NM_138393.4	NP_612402.1:p.?	NC_000019.9:g.1495273C>T	(Likely) benign	1 lab	4d687b3030
1:236912166 ACTN2 C>A	1	236912166	236912166	C	A	ACTN2	c.1516-258C>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912166C>A	(Likely) benign	1 lab	4d69906c5b
2:150438708 MMADHC T>G	2	150438708	150438708	T	G	MMADHC	c.87A>C	NM_015702.3	NP_056517.1:p.(Lys29Asn)	NC_000002.11:g.150438708T>G	(Likely) benign	1 lab	4d6b6c4f5f
16:29567295 MISSING Ref too long to show for this DEL>A	16	29567295	30191848	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567296_30191848del	(Likely) pathogenic	1 lab	4d6eb0cd1d
2:113984777 PAX8 C>T	2	113984777	113984777	C	T	PAX8	c.1144G>A	NM_003466.4	NP_003457.1:p.(Gly382Arg)	NC_000002.11:g.113984777C>T	VUS	1 lab	4d701bd2b4
21:47692531 MCM3AP T>C	21	47692531	47692531	T	C	MCM3AP	c.2409A>G	NM_003906.5	NP_003897.2:p.(Glu803=)	NC_000021.8:g.47692531T>C	(Likely) benign	1 lab	4d7114601c
19:4511599 PLIN4 C>G	19	4511599	4511599	C	G	PLIN4	c.2373G>C	NM_001367868.2	NP_001354797.1:p.(Val791=)	NC_000019.9:g.4511599C>G	(Likely) benign	1 lab	4d739a917f
9:4825649 MISSING C>Alt too long to show for this DUP	9	4825649	4876233	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.4825653_4876233dup	VUS	1 lab	4d754fe255
15:63353966 TPM1 A>G	15	63353966	63353966	A	G	TPM1	c.618A>G	NM_001018004.2	NP_001018004.1:p.(Ser206=)	NC_000015.9:g.63353966A>G	(Likely) benign	1 lab	4d76e9049e
2:179435569 TTN G>GTGCTTTC	2	179435569	179435578	G	GTGCTTTC	TTN	c.75283_75289dup	NM_001267550.2	NP_001254479.2:p.(Thr25097ArgfsTer9)	NC_000002.11:g.179435572_179435578dup	(Likely) pathogenic	1 lab	4d7acf6c71
6:110107197 FIG4 G>A	6	110107197	110107197	G	A	FIG4	c.1949-308G>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110107197G>A	(Likely) benign	1 lab	4d7cb5d7f6
11:75511572 DGAT2 T>C	11	75511572	75511572	T	C	DGAT2	c.*19T>C	NM_032564.5	NP_115953.2:p.?	NC_000011.9:g.75511572T>C	(Likely) benign	1 lab	4d7e0a778a
15:67457264 SMAD3 C>A	15	67457264	67457264	C	A	SMAD3	c.238C>A	NM_005902.4	NP_005893.1:p.(Arg80=)	NC_000015.9:g.67457264C>A	(Likely) benign	1 lab	4d7eb448c6
9:130265104 LRSAM1 T>TGCCAGCCACTGCGCACCTGCCCGCTGTGCC	9	130265104	130265139	T	TGCCAGCCACTGCGCACCTGCCCGCTGTGCC	LRSAM1	c.2104_2133dup	NM_138361.5	NP_612370.3:p.(Pro702_Gln711dup)	NC_000009.11:g.130265110_130265139dup	VUS	1 lab	4d7f8d6cc6
11:111897028 DLAT GTT>G	11	111897028	111897045	GTT	G	DLAT	c.381+21_381+22del	NM_001931.5	NP_001922.2:p.?	NC_000011.9:g.111897044_111897045del	(Likely) benign	1 lab	4d809e98c8
2:21267210 APOB A>G	2	21267210	21267210	A	G	APOB				NC_000002.11:g.21267210A>G	(Likely) benign	1 lab	4d83d49257
19:11216105 LDLR G>A	19	11216105	11216105	G	A	LDLR	c.523G>A	NM_000527.5	NP_000518.1:p.(Asp175Asn)	NC_000019.9:g.11216105G>A	(Likely) pathogenic	1 lab	4d8600d81a
7:150671891 KCNH2 G>C	7	150671891	150671891	G	C	KCNH2	c.215C>G	NM_000238.4	NP_000229.1:p.(Pro72Arg)	NC_000007.13:g.150671891G>C	(Likely) pathogenic	1 lab	4d8643a7be
19:45409579 APOE C>T	19	45409579	45409579	C	T	APOE	c.56-280C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409579C>T	(Likely) benign	1 lab	4d8a9218d5
15:73615740 HCN4 G>C	15	73615740	73615740	G	C	HCN4	c.2694C>G	NM_005477.3	NP_005468.1:p.(Gly898=)	NC_000015.9:g.73615740G>C	(Likely) benign	1 lab	4d8c03606f
8:7398772 PRR23D1 T>G	8	7398772	7398772	T	G	PRR23D1	c.210T>G	NM_001282479.1	NP_001269408.1:p.(Asn70Lys)	NC_000008.10:g.7398772T>G	(Likely) benign	1 lab	4d8c9d6ac3
2:179540481 TTN A>T	2	179540481	179540481	A	T	TTN	c.34454T>A	NM_001267550.2	NP_001254479.2:p.(Val11485Glu)	NC_000002.11:g.179540481A>T	VUS	1 lab	4d8cbb1ae1
15:71507375 THSD4 T>C	15	71507375	71507375	T	C	THSD4	c.101T>C	NM_024817.2	NP_079093.2:p.(Val34Ala)	NC_000015.9:g.71507375T>C	VUS	1 lab	4d8dc0621d
1:55512414 PCSK9 C>G	1	55512414	55512414	C	G	PCSK9	c.523+95C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512414C>G	(Likely) benign	1 lab	4d8f96c94d
6:135732471 AHI1 A>T	6	135732471	135732471	A	T	AHI1	c.2961+15T>A	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135732471A>T	(Likely) benign	1 lab	4d93017f26
12:117962876 KSR2 T>A	12	117962876	117962876	T	A	KSR2	c.2000A>T	NM_173598.6	NP_775869.4:p.(Glu667Val)	NC_000012.11:g.117962876T>A	(Likely) benign	1 lab	4d9789db10
2:105977903 FHL2 G>C	2	105977903	105977903	G	C	FHL2	c.689-12C>G	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105977903G>C	(Likely) benign	1 lab	4d982459c0
15:65482256 MISSING T>Alt too long to show for this DUP	15	65482256	65562215	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.65482257_65562215dup	VUS	1 lab	4d9c5177d3
16:88494747 ZNF469 C>T	16	88494747	88494747	C	T	ZNF469	c.869C>T	NM_001367624.2	NP_001354553.1:p.(Ala290Val)	NC_000016.9:g.88494747C>T	(Likely) benign	1 lab	4da164baf3
18:3452262 TGIF1 C>T	18	3452262	3452262	C	T	TGIF1	c.-163C>T	NM_170695.5	NP_733796.3:p.?	NC_000018.9:g.3452262C>T	(Likely) benign	1 lab	4daab3fe43
14:105174821 INF2 T>C	14	105174821	105174821	T	C	INF2	c.1784T>C	NM_022489.4	NP_071934.3:p.(Val595Ala)	NC_000014.8:g.105174821T>C	VUS	1 lab	4dac6fe4b5
4:72622601 GC T>C	4	72622601	72622601	T	C	GC	c.862A>G	NM_000583.4	NP_000574.2:p.(Asn288Asp)	NC_000004.11:g.72622601T>C	(Likely) benign	1 lab	4db02f467b
12:57431402 MYO1A C>T	12	57431402	57431402	C	T	MYO1A	c.1985G>A	NM_001256041.2	NP_001242970.1:p.(Gly662Glu)	NC_000012.11:g.57431402C>T	(Likely) benign	1 lab	4db08a04f1
2:234229274 SAG A>G	2	234229274	234229274	A	G	SAG	c.182-2A>G	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234229274A>G	VUS	1 lab	4db665e813
16:929610 LMF1 C>T	16	929610	929610	C	T	LMF1	c.857G>A	NM_022773.4	NP_073610.2:p.(Arg286Gln)	NC_000016.9:g.929610C>T	(Likely) benign	1 lab	4db98f6052
14:41610638 MISSING G>Alt too long to show for this DUP	14	41610638	41652815	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.41610644_41652815dup	VUS	1 lab	4dbaee85b8
15:52632373 MYO5A G>A	15	52632373	52632373	G	A	MYO5A	c.4239+20C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52632373G>A	(Likely) benign	1 lab	4dbf9c4556
9:6113603 MISSING G>Alt too long to show for this DUP	9	6113603	6433419	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.6113605_6433419dup	VUS	1 lab	4dc1633fa0
8:144297321 GPIHBP1 C>T	8	144297321	144297321	C	T	GPIHBP1	c.483C>T	NM_178172.6	NP_835466.2:p.(Ser161=)	NC_000008.10:g.144297321C>T	(Likely) benign	1 lab	4dc1d72b0f
14:75022192 LTBP2 C>T	14	75022192	75022192	C	T	LTBP2	c.1021+14G>A	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.75022192C>T	(Likely) benign	1 lab	4dc2ffac4d
9:98241259 PTCH1 C>T	9	98241259	98241259	C	T	PTCH1	c.1215+23G>A	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98241259C>T	(Likely) benign	1 lab	4dc816be89
18:19751838 GATA6 G>T	18	19751838	19751838	G	T	GATA6	c.733G>T	NM_005257.6	NP_005248.2:p.(Gly245Trp)	NC_000018.9:g.19751838G>T	VUS	1 lab	4dca4b6071
16:918880 LMF1 G>A	16	918880	918880	G	A	LMF1	c.1130+64C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918880G>A	(Likely) benign	1 lab	4dcb105dea
2:179464050 TTN T>G	2	179464050	179464050	T	G	TTN	c.56470A>C	NM_001267550.2	NP_001254479.2:p.(Lys18824Gln)	NC_000002.11:g.179464050T>G	VUS	1 lab	4dcb396ed2
1:36859922 MISSING Ref too long to show for this DEL>A	1	36859922	36904180	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.36859923_36904180del	VUS	1 lab	4dcb51bddf
6:157527813 ARID1B AC>A	6	157527813	157527815	AC	A	ARID1B	c.5789del	NM_001371656.1	NP_001358585.1:p.(Pro1930LeufsTer4)	NC_000006.11:g.157527815del	(Likely) pathogenic	1 lab	4dcbb5f10c
7:91726494 AKAP9 G>A	7	91726494	91726494	G	A	AKAP9	c.10221G>A	NM_005751.5	NP_005742.4:p.(Glu3407=)	NC_000007.13:g.91726494G>A	(Likely) benign	1 lab	4dcc9cceaa
13:73293238 MZT1 G>A	13	73293238	73293238	G	A	MZT1	c.80-3C>T	NM_001071775.3	NP_001065243.1:p.?	NC_000013.10:g.73293238G>A	(Likely) benign	1 lab	4e16038e43
1:202911315 ADIPOR1 G>T	1	202911315	202911315	G	T	ADIPOR1	c.837C>A	NM_001290557.1	NP_001277486.1:p.(Val279=)	NC_000001.10:g.202911315G>T	(Likely) benign	1 lab	4dd33c296a
2:179449026 TTN T>A	2	179449026	179449026	T	A	TTN	c.65252A>T	NM_001267550.2	NP_001254479.2:p.(Tyr21751Phe)	NC_000002.11:g.179449026T>A	VUS	1 lab	4dd4889f93
10:92678744 ANKRD1 A>ATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATAT	(Likely) benign	1 lab	4dd65b8335
X:114871127 PLS3 AT>A	X	114871127	114871140	AT	A	PLS3	c.749-8del	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114871140del	(Likely) benign	1 lab	4ddcc3c18b
1:218607347 TGFB2 C>T	1	218607347	218607347	C	T	TGFB2	c.511-77C>T	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218607347C>T	(Likely) benign	1 lab	4de197bdd9
2:21238075 APOB AT>A	2	21238075	21238082	AT	A	APOB	c.3565del	NM_000384.3	NP_000375.3:p.(Met1189Ter)	NC_000002.11:g.21238082del	(Likely) pathogenic	1 lab	4de2b53e8e
15:58855707 LIPC C>T	15	58855707	58855707	C	T	LIPC	c.1173C>T	NM_000236.3	NP_000227.2:p.(Gly391=)	NC_000015.9:g.58855707C>T	(Likely) benign	1 lab	4de39f54b3
12:122268107 SETD1B C>T	12	122268107	122268107	C	T	SETD1B	c.5863C>T	NM_001353345.2	NP_001340274.1:p.(Leu1955Phe)	NC_000012.11:g.122268107C>T	VUS	1 lab	4de4dbe356
1:8690931 RERE Ref too long to show for this DEL>A	1	8690931	8716081	Ref too long to show for this DEL	A	RERE	c.277_326-6493del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8690933_8716081del	VUS	1 lab	4de6edaf14
4:106374772 PPA2 G>A	4	106374772	106374772	G	A	PPA2	c.250C>T	NM_176869.3	NP_789845.1:p.(Arg84Ter)	NC_000004.11:g.106374772G>A	VUS	1 lab	4de97518e6
17:46023295 PNPO C>G	17	46023295	46023295	C	G	PNPO	c.486C>G	NM_018129.4	NP_060599.1:p.(Pro162=)	NC_000017.10:g.46023295C>G	(Likely) benign	1 lab	4deae873d1
15:73615982 HCN4 C>T	15	73615982	73615982	C	T	HCN4	c.2452G>A	NM_005477.3	NP_005468.1:p.(Gly818Ser)	NC_000015.9:g.73615982C>T	VUS	1 lab	4dee45345a
16:16272776 ABCC6 C>T	16	16272776	16272776	C	T	ABCC6	c.1952G>A	NM_001351800.1	NP_001338729.1:p.(Arg651Gln)	NC_000016.9:g.16272776C>T	(Likely) pathogenic	1 lab	4df2acc1cb
16:918695 LMF1 C>T	16	918695	918695	C	T	LMF1	c.1529+249G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.918695C>T	(Likely) benign	1 lab	4df62b3f65
11:76823626 CAPN5 C>G	11	76823626	76823626	C	G	CAPN5	c.298-9C>G	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76823626C>G	(Likely) benign	1 lab	4df992451c
11:47365442 MYBPC3 T>C	11	47365442	47365442	T	C	MYBPC3	c.1091-267A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365442T>C	(Likely) benign	1 lab	4dfa20b438
3:123456370 MYLK C>G	3	123456370	123456370	C	G	MYLK	c.609G>C	NM_053025.4	NP_444253.3:p.(Pro203=)	NC_000003.11:g.123456370C>G	(Likely) benign	1 lab	4dfe3811fb
2:27672182 IFT172 G>A	2	27672182	27672182	G	A	IFT172	c.4290C>T	NM_015662.3	NP_056477.1:p.(Cys1430=)	NC_000002.11:g.27672182G>A	(Likely) benign	1 lab	4dff9feb5a
19:1912633 ADAT3 C>T	19	1912633	1912633	C	T	ADAT3	c.587C>T	NM_138422.4	NP_612431.2:p.(Ala196Val)	NC_000019.9:g.1912633C>T	(Likely) pathogenic	1 lab	4dffef53ee
13:32905054 BRCA2 A>C	13	32905054	32905054	A	C	BRCA2	c.682-2A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905054A>C	(Likely) pathogenic	1 lab	4e01fc4c02
6:71003921 COL9A1 A>G	6	71003921	71003921	A	G	COL9A1	c.645T>C	NM_001851.6	NP_001842.3:p.(Asp215=)	NC_000006.11:g.71003921A>G	(Likely) benign	1 lab	4e03708119
2:179604143 TTN G>C	2	179604143	179604143	G	C	TTN	c.13817C>G	NM_001267550.2	NP_001254479.2:p.(Pro4606Arg)	NC_000002.11:g.179604143G>C	VUS	1 lab	4e03d22f22
6:32010378 TNXB G>A	6	32010378	32010378	G	A	TNXB	c.12058C>T	NM_019105.8	NP_061978.6:p.(Leu4020=)	NC_000006.11:g.32010378G>A	(Likely) benign	1 lab	4e14dd2337
5:176666755 NSD1 A>C	5	176666755	176666755	A	C	NSD1	c.4193-2A>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176666755A>C	(Likely) pathogenic	1 lab	4e0a999e32
18:72346260 ZNF407 T>C	18	72346260	72346260	T	C	ZNF407	c.3285T>C	NM_017757.3	NP_060227.2:p.(Ile1095=)	NC_000018.9:g.72346260T>C	(Likely) benign	1 lab	4e0af7e35a
15:44949383 SPG11 G>T	15	44949383	44949383	G	T	SPG11	c.779C>A	NM_025137.4	NP_079413.3:p.(Thr260Asn)	NC_000015.9:g.44949383G>T	VUS	1 lab	4e0c1f136e
16:56996211 CETP G>A	16	56996211	56996211	G	A	CETP	c.118+202G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996211G>A	(Likely) benign	1 lab	4e10341716
16:1005032 LMF1 T>C	16	1005032	1005032	T	C	LMF1	c.-361-366A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005032T>C	(Likely) benign	1 lab	4e10701ea6
2:179395131 TTN A>G	2	179395131	179395131	A	G	TTN	c.106211T>C	NM_001267550.2	NP_001254479.2:p.(Val35404Ala)	NC_000002.11:g.179395131A>G	VUS	1 lab	4e11490859
4:2661270 FAM193A Ref too long to show for this DEL>T	4	2661270	2665097	Ref too long to show for this DEL	T	FAM193A	c.1390-13_2079+82del	NM_001366318.2	NP_001353247.1:p.?	NC_000004.11:g.2661272_2665097del	VUS	1 lab	4e1179868c
3:49680130 BSN G>A	3	49680130	49680130	G	A	BSN	c.1063G>A	NM_003458.4	NP_003449.2:p.(Ala355Thr)	NC_000003.11:g.49680130G>A	(Likely) benign	1 lab	4e141f5c8d
16:1005136 LMF1 A>C	16	1005136	1005136	A	C	LMF1	c.-361-470T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005136A>C	(Likely) benign	1 lab	4e142d488d
3:9490296 SETD5 A>AT	3	9490296	9490298	A	AT	SETD5	c.2036dup	NM_001292043.2	NP_001278972.1:p.(Ser680GlnfsTer4)	NC_000003.11:g.9490298dup	(Likely) pathogenic	1 lab	4e143d958b
2:179475757 TTN G>A	2	179475757	179475757	G	A	TTN	c.51099C>T	NM_001267550.2	NP_001254479.2:p.(Leu17033=)	NC_000002.11:g.179475757G>A	(Likely) benign	1 lab	4e1a14632e
1:185892766 HMCN1 C>G	1	185892766	185892766	C	G	HMCN1	c.1266C>G	NM_031935.3	NP_114141.2:p.(Ser422=)	NC_000001.10:g.185892766C>G	(Likely) benign	1 lab	4e1cc3aee4
16:88497526 ZNF469 C>A	16	88497526	88497526	C	A	ZNF469	c.3648C>A	NM_001367624.2	NP_001354553.1:p.(Arg1216=)	NC_000016.9:g.88497526C>A	(Likely) benign	1 lab	4e1d0e4915
X:37587609 XK A>C	X	37587609	37587609	A	C	XK	c.1229A>C	NM_021083.4	NP_066569.1:p.(Lys410Thr)	NC_000023.10:g.37587609A>C	VUS	1 lab	4e218a700f
16:30093861 PPP4C AGT>A	16	30093861	30093866	AGT	A	PPP4C	c.201+10_201+11del	NM_002720.3	NP_002711.1:p.?	NC_000016.9:g.30093865_30093866del	(Likely) benign	1 lab	4e21ff1e54
6:136589480 BCLAF1 G>GT	6	136589480	136589481	G	GT	BCLAF1	c.2220-4_2220-3insA	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136589480_136589481insT	(Likely) benign	1 lab	4e223ca743
15:84908750 GOLGA6L4 T>TACGTGAACAGGAGGAGAGGCA	15	84908750	84908766	T	TACGTGAACAGGAGGAGAGGCA	GOLGA6L4	c.659_660insGAGGCAACGTGAACAGGAGGA	NM_001267536.3	NP_001254465.2:p.(Glu219_Asp220insGluArgGlnArgGluGlnGlu)	NC_000015.9:g.84908765_84908766insGAGGCAACGTGAACAGGAGGA	(Likely) benign	1 lab	4e234b75bf
5:140925607 MISSING A>Alt too long to show for this DUP	5	140925607	141093239	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.140925608_141093239dup	(Likely) pathogenic	1 lab	4e2702cf5c
12:50502825 GPD1 G>C	12	50502825	50502825	G	C	GPD1	c.954-381G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502825G>C	(Likely) benign	1 lab	4e27c70902
12:21349897 SLCO1B1 C>T	12	21349897	21349897	C	T	SLCO1B1	c.745C>T	NM_006446.5	NP_006437.3:p.(Pro249Ser)	NC_000012.11:g.21349897C>T	(Likely) benign	1 lab	4e2858da18
18:47096075 LIPG CT>C	18	47096075	47096089	CT	C	LIPG	c.571+171del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47096089del	(Likely) benign	1 lab	4e2b482acf
1:3328795 PRDM16 C>T	1	3328795	3328795	C	T	PRDM16	c.2034C>T	NM_022114.4	NP_071397.3:p.(Pro678=)	NC_000001.10:g.3328795C>T	(Likely) benign	1 lab	4e2c69d941
5:153348931 MISSING Ref too long to show for this DEL>A	5	153348931	153390485	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.153348932_153390485del	VUS	1 lab	4e2da93a18
3:25637947 RARB C>CT	3	25637947	25637948	C	CT	RARB	c.1209dup	NM_001290216.3	NP_001277145.1:p.(Gly404TrpfsTer15)	NC_000003.11:g.25637948dup	(Likely) pathogenic	1 lab	4e30b88dac
14:23896788 MYH7 A>G	14	23896788	23896788	A	G	MYH7	c.1888+6T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23896788A>G	(Likely) benign	1 lab	4e330b3902
7:128484374 FLNC A>T	7	128484374	128484374	A	T	FLNC	c.3192+54A>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128484374A>T	(Likely) benign	1 lab	4e34784d71
7:75463504 MISSING Ref too long to show for this DEL>T	7	75463504	75585797	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.75463505_75585797del	VUS	1 lab	4e35651695
19:11230928 LDLR C>T	19	11230928	11230928	C	T	LDLR	c.1987+19C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230928C>T	(Likely) benign	1 lab	4e363bf779
2:179395452 TTN G>A	2	179395452	179395452	G	A	TTN	c.98186C>T	NM_133378.4	NP_596869.4:p.(Ser32729Phe)	NC_000002.11:g.179395452G>A	VUS	1 lab	4e374e8b78
17:36484963 GPR179 TC>T	17	36484963	36484967	TC	T	GPR179	c.4488del	NM_001004334.4	NP_001004334.3:p.(Thr1497GlnfsTer26)	NC_000017.10:g.36484967del	VUS	1 lab	4e3a43f530
1:12030789 PLOD1 C>A	1	12030789	12030789	C	A	PLOD1	c.1818C>A	NM_000302.4	NP_000293.2:p.(Ile606=)	NC_000001.10:g.12030789C>A	(Likely) benign	1 lab	4e3a5cfc85
9:136218998 SURF1 C>G	9	136218998	136218998	C	G	SURF1	c.752-1G>C	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136218998C>G	(Likely) pathogenic	1 lab	4e3e09e727
17:75489164 SEPTIN9 C>T	17	75489164	75489164	C	T	SEPTIN9	c.1519+6C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489164C>T	(Likely) benign	1 lab	4e40fdd427
3:38671798 SCN5A AT>A	3	38671798	38671799	AT	A	SCN5A	c.392+3del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38671799del	VUS	1 lab	4e45c7b67e
2:179593894 TTN GT>G	2	179593894	179593896	GT	G	TTN	c.18870del	NM_001267550.2	NP_001254479.2:p.(Glu6290AspfsTer9)	NC_000002.11:g.179593896del	VUS	1 lab	4e4a6e9f32
3:128525217 RAB7A A>C	3	128525217	128525217	A	C	RAB7A	c.183A>C	NM_004637.6	NP_004628.4:p.(Ile61=)	NC_000003.11:g.128525217A>C	(Likely) benign	1 lab	4e4a82c990
2:220283396 DES C>T	2	220283396	220283396	C	T	DES	c.212C>T	NM_001927.4	NP_001918.3:p.(Ala71Val)	NC_000002.11:g.220283396C>T	VUS	1 lab	4e4c265a23
14:23868126 MYH6 G>A	14	23868126	23868126	G	A	MYH6	c.1702C>T	NM_002471.4	NP_002462.2:p.(Arg568Cys)	NC_000014.8:g.23868126G>A	VUS	1 lab	4e4e422802
2:48707062 PPP1R21 G>C	2	48707062	48707062	G	C	PPP1R21	c.1226-1G>C	NM_001135629.3	NP_001129101.1:p.?	NC_000002.11:g.48707062G>C	VUS	1 lab	4e4f030f86
12:81102311 MYF6 T>C	12	81102311	81102311	T	C	MYF6	c.528T>C	NM_002469.3	NP_002460.1:p.(Gly176=)	NC_000012.11:g.81102311T>C	(Likely) benign	1 lab	4e5a81f756
12:125292413 SCARB1 G>A	12	125292413	125292413	G	A	SCARB1	c.903C>T	NM_005505.5	NP_005496.4:p.(Phe301=)	NC_000012.11:g.125292413G>A	(Likely) benign	1 lab	4e5f3f6653
2:32502723 MISSING Ref too long to show for this DEL>G	2	32502723	32822895	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.32502724_32822895del	VUS	1 lab	4e5fc16c8c
3:116314606 MISSING Ref too long to show for this DEL>T	3	116314606	116496171	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.116314609_116496171del	VUS	1 lab	4e62cab2f8
15:72109990 NR2E3 A>G	15	72109990	72109990	A	G	NR2E3	c.1198A>G	NM_014249.4	NP_055064.1:p.(Met400Val)	NC_000015.9:g.72109990A>G	VUS	1 lab	4e647ccbdc
12:122260540 SETD1B C>T	12	122260540	122260540	C	T	SETD1B	c.4055C>T	NM_001353345.2	NP_001340274.1:p.(Pro1352Leu)	NC_000012.11:g.122260540C>T	(Likely) benign	1 lab	4e64fcf363
15:75311154 SCAMP5 G>T	15	75311154	75311154	G	T	SCAMP5	c.538G>T	NM_001178111.2	NP_001171582.1:p.(Gly180Trp)	NC_000015.9:g.75311154G>T	(Likely) pathogenic	1 lab	4e6aed549b
10:28142294 ODAD2 T>TATAAATAA	10	28142294	28142323	T	TATAAATAA	ODAD2	c.3021+7252_3021+7259dup	NM_001290020.2	NP_001276949.1:p.?	NC_000010.10:g.28142316_28142323dup	(Likely) benign	1 lab	4e6d50defe
18:25616451 CDH2 A>T	18	25616451	25616451	A	T	CDH2	c.62T>A	NM_001308176.2	NP_001295105.1:p.(Leu21Ter)	NC_000018.9:g.25616451A>T	(Likely) benign	1 lab	4e6e07edca
10:123276938 FGFR2 G>C	10	123276938	123276938	G	C	FGFR2	c.979C>G	NM_000141.5	NP_000132.3:p.(Leu327Val)	NC_000010.10:g.123276938G>C	(Likely) pathogenic	1 lab	4e7292ca2b
4:114286358 ANK2 T>TTG	4	114286358	114286359	T	TTG	ANK2	c.11032+20_11032+21insTG	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286358_114286359insTG	(Likely) benign	1 lab	4e73022f19
X:84532271 POF1B Ref too long to show for this DEL>G	X	84532271	84566580	Ref too long to show for this DEL	G	POF1B				NC_000023.10:g.84532272_84566580del	(Likely) pathogenic	1 lab	4e7469d470
19:12759933 MAN2B1 G>A	19	12759933	12759933	G	A	MAN2B1	c.2436+17C>T	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12759933G>A	(Likely) benign	1 lab	4e767c3646
2:179426393 TTN C>G	2	179426393	179426393	C	G	TTN	c.84466G>C	NM_001267550.2	NP_001254479.2:p.(Gly28156Arg)	NC_000002.11:g.179426393C>G	VUS	1 lab	4e782448c0
10:81923154 ANXA11 C>T	10	81923154	81923154	C	T	ANXA11	c.938G>A	NM_001278409.2	NP_001265338.1:p.(Arg313His)	NC_000010.10:g.81923154C>T	VUS	1 lab	4e801af9af
10:61831502 ANK3 G>C	10	61831502	61831502	G	C	ANK3	c.9137C>G	NM_020987.5	NP_066267.2:p.(Thr3046Ser)	NC_000010.10:g.61831502G>C	(Likely) benign	1 lab	4e82d0abaa
19:45411178 APOE C>T	19	45411178	45411178	C	T	APOE	c.205C>T	NM_000041.4	NP_000032.1:p.(Leu69=)	NC_000019.9:g.45411178C>T	(Likely) benign	1 lab	4e8692d80c
11:47363549 MYBPC3 T>C	11	47363549	47363549	T	C	MYBPC3	c.1783A>G	NM_000256.3	NP_000247.2:p.(Ile595Val)	NC_000011.9:g.47363549T>C	VUS	1 lab	4e88093771
19:49671952 TRPM4 G>A	19	49671952	49671952	G	A	TRPM4	c.755G>A	NM_017636.4	NP_060106.2:p.(Arg252His)	NC_000019.9:g.49671952G>A	(Likely) benign	1 lab	4e8a26e57b
8:27467984 CLU C>T	8	27467984	27467984	C	T	CLU	c.97+8G>A	NM_001831.4	NP_001822.3:p.?	NC_000008.10:g.27467984C>T	(Likely) benign	1 lab	4e8b831ea5
1:110171803 AMPD2 C>T	1	110171803	110171803	C	T	AMPD2	c.1452C>T	NM_001257361.2	NP_001244290.1:p.(Phe484=)	NC_000001.10:g.110171803C>T	(Likely) benign	1 lab	4e8c3220d1
1:66101898 LEPR A>G	1	66101898	66101898	A	G	LEPR	c.2698A>G	NM_002303.6	NP_002294.2:p.(Ile900Val)	NC_000001.10:g.66101898A>G	(Likely) benign	1 lab	4e8d9824e0
16:89614464 SPG7 G>T	16	89614464	89614464	G	T	SPG7	c.1606G>T	NM_001363850.1	NP_001350779.1:p.(Gly536Ter)	NC_000016.9:g.89614464G>T	(Likely) pathogenic	1 lab	4e8fc10dbf
2:179441708 TTN G>A	2	179441708	179441708	G	A	TTN	c.69354C>T	NM_001267550.2	NP_001254479.2:p.(Asn23118=)	NC_000002.11:g.179441708G>A	(Likely) benign	1 lab	4e92f62aac
22:29092933 CHEK2 C>T	22	29092933	29092933	C	T	CHEK2	c.1051G>A	NM_007194.4	NP_009125.1:p.(Glu351Lys)	NC_000022.10:g.29092933C>T	VUS	1 lab	4ec1d7cf0f
4:100534120 MTTP C>T	4	100534120	100534120	C	T	MTTP	c.2040C>T	NM_000253.4	NP_000244.2:p.(Asp680=)	NC_000004.11:g.100534120C>T	(Likely) benign	1 lab	4e9c0dba02
7:154672587 DPP6 C>T	7	154672587	154672587	C	T	DPP6	c.2079-11C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154672587C>T	(Likely) benign	1 lab	4ea0d4533e
7:150655536 KCNH2 C>T	7	150655536	150655536	C	T	KCNH2	c.527G>A	NM_000238.4	NP_000229.1:p.(Arg176Gln)	NC_000007.13:g.150655536C>T	VUS	1 lab	4ea1b82e11
4:3516551 LRPAP1 G>A	4	3516551	3516551	G	A	LRPAP1	c.939C>T	NM_002337.4	NP_002328.1:p.(Asp313=)	NC_000004.11:g.3516551G>A	(Likely) benign	1 lab	4ea38e6048
1:55526716 PCSK9 C>T	1	55526716	55526716	C	T	PCSK9	c.1682-332C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55526716C>T	(Likely) benign	1 lab	4ea3b10960
12:125292442 SCARB1 C>T	12	125292442	125292442	C	T	SCARB1	c.874G>A	NM_005505.5	NP_005496.4:p.(Val292Met)	NC_000012.11:g.125292442C>T	(Likely) benign	1 lab	4ea833b4ea
4:100503172 MTTP C>T	4	100503172	100503172	C	T	MTTP	c.172C>T	NM_000253.4	NP_000244.2:p.(Arg58Cys)	NC_000004.11:g.100503172C>T	VUS	1 lab	4ea8b9f7fb
16:1003951 LMF1 CCACCCCAAACCAGCCTCCTACATGTCCACACAGA>C	16	1003951	1004007	CCACCCCAAACCAGCCTCCTACATGTCCACACAGA	C	LMF1	c.503+372_503+405del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003974_1004007del	(Likely) benign	1 lab	4eaa60044a
1:3301830 PRDM16 A>G	1	3301830	3301830	A	G	PRDM16	c.553A>G	NM_022114.4	NP_071397.3:p.(Met185Val)	NC_000001.10:g.3301830A>G	(Likely) benign	1 lab	4eac0f077b
12:56631394 SLC39A5 C>T	12	56631394	56631394	C	T	SLC39A5	c.1502C>T	NM_173596.3	NP_775867.2:p.(Pro501Leu)	NC_000012.11:g.56631394C>T	(Likely) benign	1 lab	4ead802575
10:88466474 LDB3 A>C	10	88466474	88466474	A	C	LDB3	c.1083A>C	NM_007078.3	NP_009009.1:p.(Pro361=)	NC_000010.10:g.88466474A>C	(Likely) benign	1 lab	4eb1496f2d
10:43570170 RET G>Alt too long to show for this DUP	10	43570170	43591173	G	Alt too long to show for this DUP	RET				NC_000010.10:g.43570174_43591173dup	VUS	1 lab	4eb466342b
11:68682331 IGHMBP2 T>C	11	68682331	68682331	T	C	IGHMBP2	c.752T>C	NM_002180.3	NP_002171.2:p.(Leu251Pro)	NC_000011.9:g.68682331T>C	(Likely) pathogenic	1 lab	4eb774e412
1:235543476 TBCE TTGTGTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTGTGTG	T	TBCE	c.100+46_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543510_235543529del	(Likely) benign	1 lab	4eb9f08cb6
7:111540497 DOCK4 C>A	7	111540497	111540497	C	A	DOCK4	c.1413G>T	NM_014705.4	NP_055520.3:p.(Leu471=)	NC_000007.13:g.111540497C>A	(Likely) benign	1 lab	4ebba9ce2f
11:65961030 PACS1 G>A	11	65961030	65961030	G	A	PACS1	c.430G>A	NM_018026.4	NP_060496.2:p.(Ala144Thr)	NC_000011.9:g.65961030G>A	VUS	1 lab	4ec0c64e68
9:107576403 ABCA1 G>A	9	107576403	107576403	G	A	ABCA1	c.3897C>T	NM_005502.4	NP_005493.2:p.(Asp1299=)	NC_000009.11:g.107576403G>A	(Likely) benign	1 lab	4ec369ae19
19:3984188 EEF2 C>CGTGTCTCCCCGGCCCGG	19	3984188	3984206	C	CGTGTCTCCCCGGCCCGG	EEF2	c.147_163dup	NM_001961.4	NP_001952.1:p.(Arg55ProfsTer38)	NC_000019.9:g.3984190_3984206dup	VUS	1 lab	4ec786b797
8:65528576 CYP7B1 A>G	8	65528576	65528576	A	G	CYP7B1	c.522T>C	NM_004820.5	NP_004811.1:p.(Ser174=)	NC_000008.10:g.65528576A>G	(Likely) benign	1 lab	4ec824d741
1:3342311 PRDM16 C>T	1	3342311	3342311	C	T	PRDM16	c.3106C>T	NM_022114.4	NP_071397.3:p.(Pro1036Ser)	NC_000001.10:g.3342311C>T	VUS	1 lab	4ec8cb01fc
14:64565536 SYNE2 C>T	14	64565536	64565536	C	T	SYNE2	c.12378C>T	NM_182914.3	NP_878918.2:p.(Ser4126=)	NC_000014.8:g.64565536C>T	(Likely) benign	1 lab	4ec91d84aa
12:21163940 MISSING Ref too long to show for this DEL>C	12	21163940	21404166	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.21163941_21404166del	VUS	1 lab	4ececd5197
8:19816785 LPL G>A	8	19816785	19816785	G	A	LPL	c.1033G>A	NM_000237.3	NP_000228.1:p.(Val345Ile)	NC_000008.10:g.19816785G>A	(Likely) pathogenic	1 lab	4ecf332d07
16:57016085 CETP C>T	16	57016085	57016085	C	T	CETP	c.1257C>T	NM_000078.3	NP_000069.2:p.(Ser419=)	NC_000016.9:g.57016085C>T	(Likely) benign	1 lab	4ed028316a
5:138145855 CTNNA1 A>G	5	138145855	138145855	A	G	CTNNA1	c.430A>G	NM_001903.5	NP_001894.2:p.(Met144Val)	NC_000005.9:g.138145855A>G	VUS	1 lab	4ed15cb7ee
3:193384162 OPA1 A>G	3	193384162	193384162	A	G	OPA1	c.2856A>G	NM_130837.3	NP_570850.2:p.(Gln952=)	NC_000003.11:g.193384162A>G	(Likely) benign	1 lab	4ed24a622b
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-26_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844571_100844594dup	(Likely) benign	1 lab	4ed3c969e3
9:133738320 ABL1 G>A	9	133738320	133738320	G	A	ABL1	c.720G>A	NM_005157.6	NP_005148.2:p.(Thr240=)	NC_000009.11:g.133738320G>A	(Likely) benign	1 lab	4ed601189f
9:107651416 ABCA1 G>A	9	107651416	107651416	G	A	ABCA1	c.127C>T	NM_005502.4	NP_005493.2:p.(Arg43Trp)	NC_000009.11:g.107651416G>A	VUS	1 lab	4ed65c3a76
3:38601909 SCN5A T>C	3	38601909	38601909	T	C	SCN5A	c.3974A>G	NM_198056.3	NP_932173.1:p.(Asn1325Ser)	NC_000003.11:g.38601909T>C	(Likely) pathogenic	1 lab	4edc888ed6
14:95557563 DICER1 T>C	14	95557563	95557563	T	C	DICER1	c.5504A>G	NM_177438.3	NP_803187.1:p.(Tyr1835Cys)	NC_000014.8:g.95557563T>C	VUS	1 lab	4edc98cb4d
1:55525152 PCSK9 C>T	1	55525152	55525152	C	T	PCSK9	c.1504-7C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525152C>T	(Likely) benign	1 lab	4edff9f3d5
16:68857469 CDH1 G>A	16	68857469	68857469	G	A	CDH1	c.2104G>A	NM_004360.5	NP_004351.1:p.(Glu702Lys)	NC_000016.9:g.68857469G>A	(Likely) benign	1 lab	4ee38f5924
2:179502153 TTN T>C	2	179502153	179502153	T	C	TTN	c.40877-7A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179502153T>C	(Likely) benign	1 lab	4ee4dae4a5
2:21236405 APOB G>A	2	21236405	21236405	G	A	APOB	c.3843C>T	NM_000384.3	NP_000375.3:p.(Ser1281=)	NC_000002.11:g.21236405G>A	(Likely) benign	1 lab	4ee6c1a294
16:929559 LMF1 C>T	16	929559	929559	C	T	LMF1	c.498+11G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929559C>T	(Likely) benign	1 lab	4eecbb747d
6:32010626 TNXB G>A	6	32010626	32010626	G	A	TNXB	c.11920-18C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010626G>A	(Likely) benign	1 lab	4eeef2e1bd
16:15491526 MISSING Ref too long to show for this DEL>G	16	15491526	18207914	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.15491529_18207914del	(Likely) pathogenic	1 lab	4eef0f00de
9:2717881 KCNV2 G>A	9	2717881	2717881	G	A	KCNV2	c.142G>A	NM_133497.4	NP_598004.1:p.(Glu48Lys)	NC_000009.11:g.2717881G>A	VUS	1 lab	4eef97b0ee
11:134276448 MISSING Ref too long to show for this DEL>G	11	134276448	134938332	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.134276449_134938332del	VUS	1 lab	4eefe8d637
20:32881889 AHCY G>A	20	32881889	32881889	G	A	AHCY	c.209C>T	NM_001161766.2	NP_001155238.1:p.(Pro70Leu)	NC_000020.10:g.32881889G>A	(Likely) pathogenic	1 lab	4ef1e7164a
16:72832384 ZFHX3 G>C	16	72832384	72832384	G	C	ZFHX3	c.4197C>G	NM_001386735.1	NP_001373664.1:p.(Tyr1399Ter)	NC_000016.9:g.72832384G>C	(Likely) pathogenic	1 lab	4ef311afc9
19:45452795 APOC2 T>C	19	45452795	45452795	T	C	APOC2	c.*289T>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452795T>C	(Likely) benign	1 lab	4ef9c307a1
5:90020887 ADGRV1 A>C	5	90020887	90020887	A	C	ADGRV1	c.9907-16A>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90020887A>C	(Likely) benign	1 lab	4efd7d9125
16:921203 LMF1 T>C	16	921203	921203	T	C	LMF1	c.1036A>G	NM_022773.4	NP_073610.2:p.(Met346Val)	NC_000016.9:g.921203T>C	(Likely) benign	1 lab	4f00f476a3
3:49690691 BSN C>T	3	49690691	49690691	C	T	BSN	c.3702C>T	NM_003458.4	NP_003449.2:p.(Asp1234=)	NC_000003.11:g.49690691C>T	(Likely) benign	1 lab	4f025ff5e7
11:116707708 APOA1 G>T	11	116707708	116707708	G	T	APOA1	c.200+9C>A	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116707708G>T	(Likely) benign	1 lab	4f03022b3d
12:6954875 GNB3 C>T	12	6954875	6954875	C	T	GNB3	c.825C>T	NM_002075.4	NP_002066.1:p.(Ser275=)	NC_000012.11:g.6954875C>T	(Likely) benign	1 lab	4f0a09acda
16:57012067 CETP C>A	16	57012067	57012067	C	A	CETP	c.1046C>A	NM_000078.3	NP_000069.2:p.(Ser349Tyr)	NC_000016.9:g.57012067C>A	(Likely) benign	1 lab	4f1619f875
9:107594878 ABCA1 G>A	9	107594878	107594878	G	A	ABCA1	c.1486C>T	NM_005502.4	NP_005493.2:p.(Arg496Trp)	NC_000009.11:g.107594878G>A	VUS	1 lab	4f1679e5e2
1:74957802 TNNI3K A>G	1	74957802	74957802	A	G	TNNI3K	c.2203A>G	NM_015978.3	NP_057062.1:p.(Asn735Asp)	NC_000001.10:g.74957802A>G	VUS	1 lab	4f174369b6
7:150644520 KCNH2 G>A	7	150644520	150644520	G	A	KCNH2	c.3048C>T	NM_000238.4	NP_000229.1:p.(Pro1016=)	NC_000007.13:g.150644520G>A	(Likely) benign	1 lab	4f1abcdbcb
15:45401069 DUOX2 G>A	15	45401069	45401069	G	A	DUOX2	c.1316C>T	NM_001363711.2	NP_001350640.1:p.(Pro439Leu)	NC_000015.9:g.45401069G>A	VUS	1 lab	4f1ae7e00d
2:25141251 ADCY3 C>T	2	25141251	25141251	C	T	ADCY3	c.606G>A	NM_001320613.2	NP_001307542.1:p.(Thr202=)	NC_000002.11:g.25141251C>T	(Likely) benign	1 lab	4f1c38d9ff
20:43251546 ADA C>T	20	43251546	43251546	C	T	ADA	c.704G>A	NM_000022.4	NP_000013.2:p.(Arg235Gln)	NC_000020.10:g.43251546C>T	(Likely) pathogenic	1 lab	4f1e2f26a7
8:10468915 RP1L1 G>T	8	10468915	10468915	G	T	RP1L1	c.2693C>A	NM_178857.6	NP_849188.4:p.(Thr898Lys)	NC_000008.10:g.10468915G>T	(Likely) benign	1 lab	4f1ef9202b
3:57846576 SLMAP T>TA	3	57846576	57846577	T	TA	SLMAP	c.828+10_828+11insA	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57846576_57846577insA	(Likely) benign	1 lab	4f20b1fcf9
6:32552132 HLA-DRB1 T>C	6	32552132	32552132	T	C	HLA-DRB1	c.124A>G	NM_002124.4	NP_002115.2:p.(Arg42Gly)	NC_000006.11:g.32552132T>C	(Likely) benign	1 lab	4f21c4de47
1:237872179 RYR2 A>G	1	237872179	237872179	A	G	RYR2	c.9923A>G	NM_001035.3	NP_001026.2:p.(Asn3308Ser)	NC_000001.10:g.237872179A>G	(Likely) benign	1 lab	4f22c1eb35
2:21229873 APOB G>A	2	21229873	21229873	G	A	APOB	c.9867C>T	NM_000384.3	NP_000375.3:p.(Asp3289=)	NC_000002.11:g.21229873G>A	(Likely) benign	1 lab	4f26b1a474
6:7570962 DSP C>T	6	7570962	7570962	C	T	DSP	c.1701+166C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7570962C>T	(Likely) benign	1 lab	4f26bd8a21
8:1877480 ARHGEF10 T>G	8	1877480	1877480	T	G	ARHGEF10	c.2950T>G	NM_014629.4	NP_055444.2:p.(Ser984Ala)	NC_000008.10:g.1877480T>G	(Likely) benign	1 lab	4f26e094df
8:134256610 NDRG1 C>T	8	134256610	134256610	C	T	NDRG1	c.879G>A	NM_001135242.2	NP_001128714.1:p.(Pro293=)	NC_000008.10:g.134256610C>T	(Likely) benign	1 lab	4f285e9dc4
11:68115607 LRP5 G>A	11	68115607	68115607	G	A	LRP5	c.384G>A	NM_002335.4	NP_002326.2:p.(Glu128=)	NC_000011.9:g.68115607G>A	(Likely) benign	1 lab	4f28be269a
16:1412477 GNPTG T>A	16	1412477	1412477	T	A	GNPTG	c.551T>A	NM_032520.5	NP_115909.1:p.(Leu184Gln)	NC_000016.9:g.1412477T>A	VUS	1 lab	4f4c4f6170
1:214558119 PTPN14 T>G	1	214558119	214558119	T	G	PTPN14	c.1079A>C	NM_005401.5	NP_005392.2:p.(His360Pro)	NC_000001.10:g.214558119T>G	(Likely) benign	1 lab	4f2a2eb083
5:138160400 CTNNA1 A>T	5	138160400	138160400	A	T	CTNNA1	c.770A>T	NM_001903.5	NP_001894.2:p.(Asn257Ile)	NC_000005.9:g.138160400A>T	VUS	1 lab	4f2ab31666
1:109492429 CLCC1 TA>T	1	109492429	109492436	TA	T	CLCC1	c.231+12del	NM_001048210.3	NP_001041675.1:p.?	NC_000001.10:g.109492436del	(Likely) benign	1 lab	4f2e3eefd8
1:25889395 LDLRAP1 A>G	1	25889395	25889395	A	G	LDLRAP1	c.533-166A>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889395A>G	(Likely) benign	1 lab	4f2ec9a59e
10:18439784 CACNB2 C>CTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTT	CACNB2	c.37-11_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439801_18439809dup	(Likely) benign	1 lab	4f2f9512a7
4:177650723 VEGFC ATT>A	4	177650723	177650727	ATT	A	VEGFC	c.323_324del	NM_005429.5	NP_005420.1:p.(Lys108IlefsTer7)	NC_000004.11:g.177650726_177650727del	(Likely) pathogenic	1 lab	4f31c25a05
9:32541376 TOPORS T>C	9	32541376	32541376	T	C	TOPORS	c.*9A>G	NM_005802.5	NP_005793.2:p.?	NC_000009.11:g.32541376T>C	(Likely) benign	1 lab	4f3288200f
10:112583252 RBM20 G>A	10	112583252	112583252	G	A	RBM20	c.3331G>A	NM_001134363.3	NP_001127835.2:p.(Val1111Met)	NC_000010.10:g.112583252G>A	(Likely) benign	1 lab	4f32e47a4e
16:57984295 CNGB1 T>C	16	57984295	57984295	T	C	CNGB1	c.1024A>G	NM_001297.5	NP_001288.3:p.(Lys342Glu)	NC_000016.9:g.57984295T>C	(Likely) benign	1 lab	4f3336a2b5
X:72667289 CDX4 C>A	X	72667289	72667289	C	A	CDX4	c.200C>A	NM_005193.2	NP_005184.1:p.(Pro67Gln)	NC_000023.10:g.72667289C>A	(Likely) benign	1 lab	4f337ded29
6:7578166 DSP TTCTTCCCTTTTCCCTGTCTCCTGCC>T	6	7578166	7578217	TTCTTCCCTTTTCCCTGTCTCCTGCC	T	DSP	c.2985+74_2985+98del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578193_7578217del	(Likely) benign	1 lab	4f3455b01f
16:57017595 CETP C>T	16	57017595	57017595	C	T	CETP	c.*17C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017595C>T	VUS	1 lab	4f389d2c29
3:38592463 SCN5A T>C	3	38592463	38592463	T	C	SCN5A	c.5397A>G	NM_000335.5	NP_000326.2:p.(Lys1799=)	NC_000003.11:g.38592463T>C	(Likely) benign	1 lab	4f52c51a32
11:56622716 MISSING Ref too long to show for this DEL>G	11	56622716	60185795	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.56622718_60185795del	(Likely) pathogenic	1 lab	4f39b90acc
8:19819077 LPL T>G	8	19819077	19819077	T	G	LPL	c.1322+483T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819077T>G	(Likely) benign	1 lab	4f3bd5867c
2:44058965 ABCG5 C>T	2	44058965	44058965	C	T	ABCG5	c.444G>A	NM_022436.3	NP_071881.1:p.(Leu148=)	NC_000002.11:g.44058965C>T	(Likely) benign	1 lab	4f3c65224c
15:58835181 LIPC C>T	15	58835181	58835181	C	T	LIPC	c.574+331C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58835181C>T	VUS	1 lab	4f3c8e9f00
7:50560649 DDC C>T	7	50560649	50560649	C	T	DDC	c.999G>A	NM_001242890.2	NP_001229819.2:p.(Ala333=)	NC_000007.13:g.50560649C>T	(Likely) benign	1 lab	4f3df1f83d
16:68002504 SLC12A4 T>A	16	68002504	68002504	T	A	SLC12A4	c.54A>T	NM_001145962.1	NP_001139434.1:p.(Thr18=)	NC_000016.9:g.68002504T>A	(Likely) benign	1 lab	4f4111815d
2:179615499 TTN T>C	2	179615499	179615499	T	C	TTN	c.11628A>G	NM_133379.5	NP_596870.2:p.(Thr3876=)	NC_000002.11:g.179615499T>C	(Likely) benign	1 lab	4f421a6487
1:236900598 ACTN2 C>CATATATATATATATATATAT	1	236900598	236900618	C	CATATATATATATATATATAT	ACTN2	c.876+85_876+104dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900599_236900618dup	(Likely) benign	1 lab	4f4605339b
11:116661339 APOA5 G>A	11	116661339	116661339	G	A	APOA5	c.606C>T	NM_052968.5	NP_443200.2:p.(Ile202=)	NC_000011.9:g.116661339G>A	(Likely) benign	1 lab	4f48505df8
19:11221457 LDLR G>A	19	11221457	11221457	G	A	LDLR	c.1060+10G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221457G>A	(Likely) benign	1 lab	4f4badd34d
16:58577329 CNOT1 C>A	16	58577329	58577329	C	A	CNOT1	c.4616G>T	NM_206999.3	NP_996882.1:p.(Cys1539Phe)	NC_000016.9:g.58577329C>A	(Likely) benign	1 lab	4f4cc0df1a
7:110441164 IMMP2L Ref too long to show for this DEL>T	7	110441164	110643192	Ref too long to show for this DEL	T	IMMP2L	c.240-39570_408+85484del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110441166_110643192del	VUS	1 lab	4f512d3f42
2:21234770 APOB G>A	2	21234770	21234770	G	A	APOB	c.4970C>T	NM_000384.3	NP_000375.3:p.(Thr1657Met)	NC_000002.11:g.21234770G>A	(Likely) benign	1 lab	4f519c17d9
20:45354291 SLC2A10 G>A	20	45354291	45354291	G	A	SLC2A10	c.616G>A	NM_030777.4	NP_110404.1:p.(Ala206Thr)	NC_000020.10:g.45354291G>A	(Likely) benign	1 lab	4f5497677e
4:114260488 ANK2 T>C	4	114260488	114260488	T	C	ANK2	c.3893+10T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114260488T>C	(Likely) benign	1 lab	4f5724b34a
12:53722601 SP7 G>A	12	53722601	53722601	G	A	SP7	c.625C>T	NM_001173467.3	NP_001166938.1:p.(Pro209Ser)	NC_000012.11:g.53722601G>A	VUS	1 lab	4f5a45d896
17:15162464 PMP22 C>T	17	15162464	15162464	C	T	PMP22	c.125G>A	NM_000304.4	NP_000295.1:p.(Cys42Tyr)	NC_000017.10:g.15162464C>T	VUS	1 lab	4f5ab29589
7:33148951 RP9 C>T	7	33148951	33148951	C	T	RP9	c.34G>A	NM_203288.2	NP_976033.1:p.(Ala12Thr)	NC_000007.13:g.33148951C>T	(Likely) benign	1 lab	4f5b78cfae
12:124399005 DNAH10 G>A	12	124399005	124399005	G	A	DNAH10	c.10128G>A	NM_207437.3	NP_997320.2:p.(Arg3376=)	NC_000012.11:g.124399005G>A	(Likely) benign	1 lab	4f5b836aa1
11:117268012 CEP164 C>A	11	117268012	117268012	C	A	CEP164	c.3484C>A	NM_014956.5	NP_055771.4:p.(Arg1162Ser)	NC_000011.9:g.117268012C>A	(Likely) benign	1 lab	4f5e49b168
19:48342861 CRX G>A	19	48342861	48342861	G	A	CRX	c.537G>A	NM_000554.6	NP_000545.1:p.(Leu179=)	NC_000019.9:g.48342861G>A	(Likely) benign	1 lab	4f5e6bdfb6
Y:603109 SHOX Ref too long to show for this DEL>G	Y	603109	606099	Ref too long to show for this DEL	G	SHOX	c.633+1288_*728del	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.603110_606099del	VUS	1 lab	4f6554ae80
11:22271765 ANO5 T>C	11	22271765	22271765	T	C	ANO5	c.879-18T>C	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22271765T>C	(Likely) benign	1 lab	4f65758850
16:53705407 RPGRIP1L G>A	16	53705407	53705407	G	A	RPGRIP1L	c.1103+15C>T	NM_001330538.2	NP_001317467.1:p.?	NC_000016.9:g.53705407G>A	(Likely) benign	1 lab	4f6bd2ef18
2:78095532 MISSING Ref too long to show for this DEL>A	2	78095532	78280763	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.78095533_78280763del	VUS	1 lab	4f6d2fa638
7:40612492 SUGCT Ref too long to show for this DEL>A	7	40612492	40726393	Ref too long to show for this DEL	A	SUGCT	c.1089+76508_1090-62640del	NM_001193313.2	NP_001180242.2:p.?	NC_000007.13:g.40612493_40726393del	VUS	1 lab	4f6d90ee20
20:25284245 ABHD12 G>A	20	25284245	25284245	G	A	ABHD12	c.970C>T	NM_001042472.3	NP_001035937.1:p.(Pro324Ser)	NC_000020.10:g.25284245G>A	VUS	1 lab	4f6e6b26dc
19:45412408 APOE C>G	19	45412408	45412408	C	G	APOE	c.933C>G	NM_001302688.2	NP_001289617.1:p.(Pro311=)	NC_000019.9:g.45412408C>G	(Likely) benign	1 lab	4f6f88df74
12:7535502 MISSING C>Alt too long to show for this DUP	12	7535502	7806799	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.7535503_7806799dup	VUS	1 lab	4f750bc83a
11:8060547 TUB C>T	11	8060547	8060547	C	T	TUB	c.127C>T	NM_003320.5	NP_003311.2:p.(Pro43Ser)	NC_000011.9:g.8060547C>T	(Likely) benign	1 lab	4f752e5a39
22:22127165 MAPK1 G>C	22	22127165	22127165	G	C	MAPK1	c.963C>G	NM_002745.5	NP_002736.3:p.(Asp321Glu)	NC_000022.10:g.22127165G>C	(Likely) pathogenic	1 lab	4f7a047d32
12:11286736 TAS2R30 G>C	12	11286736	11286736	G	C	TAS2R30	c.108C>G	NM_001097643.1	NP_001091112.1:p.(Val36=)	NC_000012.11:g.11286736G>C	(Likely) benign	1 lab	4f7b432098
11:116703493 APOC3 G>A	11	116703493	116703493	G	A	APOC3	c.193G>A	NM_000040.3	NP_000031.1:p.(Asp65Asn)	NC_000011.9:g.116703493G>A	(Likely) benign	1 lab	4f7bed7646
1:6111721 KCNAB2 C>T	1	6111721	6111721	C	T	KCNAB2	c.125C>T	NM_001199862.2	NP_001186791.1:p.(Ala42Val)	NC_000001.10:g.6111721C>T	(Likely) benign	1 lab	4f7ca11e33
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	4f7f51168f
19:11218136 LDLR T>A	19	11218136	11218136	T	A	LDLR	c.886T>A	NM_000527.5	NP_000518.1:p.(Cys296Ser)	NC_000019.9:g.11218136T>A	(Likely) pathogenic	1 lab	4f82489d0b
6:56376091 DST C>T	6	56376091	56376091	C	T	DST	c.12327G>A	NM_001144769.5	NP_001138241.1:p.(Glu4109=)	NC_000006.11:g.56376091C>T	(Likely) benign	1 lab	4f846f0bd2
12:125298946 SCARB1 C>T	12	125298946	125298946	C	T	SCARB1	c.432G>A	NM_001367981.1	NP_001354910.1:p.(Ala144=)	NC_000012.11:g.125298946C>T	(Likely) benign	1 lab	4f8492f9e4
12:125279821 SCARB1 C>T	12	125279821	125279821	C	T	SCARB1	c.1129-7G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279821C>T	(Likely) benign	1 lab	4f88a751a5
2:73678678 ALMS1 A>G	2	73678678	73678678	A	G	ALMS1	c.5027A>G	NM_015120.4	NP_055935.4:p.(Tyr1676Cys)	NC_000002.11:g.73678678A>G	VUS	1 lab	4f8ff9b562
14:102476436 DYNC1H1 G>T	14	102476436	102476436	G	T	DYNC1H1	c.6221+13G>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102476436G>T	(Likely) benign	1 lab	4f90aaf24f
1:226037778 TMEM63A G>C	1	226037778	226037778	G	C	TMEM63A	c.1906C>G	NM_014698.3	NP_055513.2:p.(Leu636Val)	NC_000001.10:g.226037778G>C	(Likely) benign	1 lab	4f94072977
1:156845431 NTRK1 G>A	1	156845431	156845431	G	A	NTRK1	c.1474G>A	NM_002529.3	NP_002520.2:p.(Glu492Lys)	NC_000001.10:g.156845431G>A	VUS	1 lab	4f963587e5
1:8420555 RERE GGGCT>G	1	8420555	8420561	GGGCT	G	RERE	c.3008_3011del	NM_012102.4	NP_036234.3:p.(Gln1003ProfsTer4)	NC_000001.10:g.8420558_8420561del	VUS	1 lab	4f998160ef
2:21228972 APOB C>T	2	21228972	21228972	C	T	APOB	c.10768G>A	NM_000384.3	NP_000375.3:p.(Glu3590Lys)	NC_000002.11:g.21228972C>T	VUS	1 lab	4f99e24c21
2:158630600 ACVR1 C>T	2	158630600	158630600	C	T	ACVR1	c.643G>A	NM_001105.5	NP_001096.1:p.(Gly215Arg)	NC_000002.11:g.158630600C>T	VUS	1 lab	4f9a045a08
16:88788297 PIEZO1 G>A	16	88788297	88788297	G	A	PIEZO1	c.5133C>T	NM_001142864.4	NP_001136336.2:p.(Pro1711=)	NC_000016.9:g.88788297G>A	(Likely) benign	1 lab	4f9c6e201b
3:129694659 TRH G>A	3	129694659	129694659	G	A	TRH	c.-1G>A	NM_007117.5	NP_009048.1:p.?	NC_000003.11:g.129694659G>A	(Likely) benign	1 lab	4f9db33a81
1:55512296 PCSK9 G>A	1	55512296	55512296	G	A	PCSK9	c.500G>A	NM_174936.4	NP_777596.2:p.(Arg167Gln)	NC_000001.10:g.55512296G>A	VUS	1 lab	4f9defdf12
6:56334944 DST G>A	6	56334944	56334944	G	A	DST	c.16101C>T	NM_001144769.5	NP_001138241.1:p.(Ala5367=)	NC_000006.11:g.56334944G>A	(Likely) benign	1 lab	4f9e92ee44
16:68718642 CDH3 G>A	16	68718642	68718642	G	A	CDH3	c.1339G>A	NM_001793.6	NP_001784.2:p.(Val447Ile)	NC_000016.9:g.68718642G>A	(Likely) benign	1 lab	4f9ff605e1
15:93551379 MISSING C>Alt too long to show for this DUP	15	93551379	93885876	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.93551380_93885876dup	VUS	1 lab	4fcabcf76c
19:11224344 LDLR G>C	19	11224344	11224344	G	C	LDLR	c.1492G>C	NM_000527.5	NP_000518.1:p.(Val498Leu)	NC_000019.9:g.11224344G>C	VUS	1 lab	4fa1de7b2b
14:78121097 MISSING A>Alt too long to show for this DUP	14	78121097	78410717	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.78121099_78410717dup	VUS	1 lab	4fa2dc5ed5
X:129271132 AIFM1 T>C	X	129271132	129271132	T	C	AIFM1	c.996A>G	NM_004208.4	NP_004199.1:p.(Gln332=)	NC_000023.10:g.129271132T>C	(Likely) benign	1 lab	4fa5dc9d48
15:31294923 TRPM1 C>T	15	31294923	31294923	C	T	TRPM1	c.4031G>A	NM_001252020.2	NP_001238949.1:p.(Arg1344His)	NC_000015.9:g.31294923C>T	(Likely) benign	1 lab	4fa8a1495d
13:52523858 ATP7B C>T	13	52523858	52523858	C	T	ATP7B	c.2805G>A	NM_000053.4	NP_000044.2:p.(Thr935=)	NC_000013.10:g.52523858C>T	(Likely) benign	1 lab	4faafb187e
18:10759919 PIEZO2 T>G	18	10759919	10759919	T	G	PIEZO2	c.3376-12A>C	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10759919T>G	(Likely) benign	1 lab	4fabd60ac9
16:1020798 LMF1 G>A	16	1020798	1020798	G	A	LMF1	c.183C>T	NM_022773.4	NP_073610.2:p.(Ala61=)	NC_000016.9:g.1020798G>A	(Likely) benign	1 lab	4fae8b7423
5:156668760 ITK A>T	5	156668760	156668760	A	T	ITK	c.1060+30A>T	NM_005546.4	NP_005537.3:p.?	NC_000005.9:g.156668760A>T	(Likely) benign	1 lab	4fb1d61904
1:161276575 MPZ G>A	1	161276575	161276575	G	A	MPZ	c.371C>T	NM_000530.8	NP_000521.2:p.(Thr124Met)	NC_000001.10:g.161276575G>A	(Likely) pathogenic	1 lab	4fb281a52e
1:55505679 PCSK9 G>A	1	55505679	55505679	G	A	PCSK9	c.169G>A	NM_174936.4	NP_777596.2:p.(Glu57Lys)	NC_000001.10:g.55505679G>A	VUS	1 lab	4fb3e3897d
14:21862006 CHD8 GGAGTA>G	14	21862006	21862014	GGAGTA	G	CHD8	c.5943_5947del	NM_001170629.2	NP_001164100.1:p.(Pro1983AlafsTer22)	NC_000014.8:g.21862010_21862014del	(Likely) pathogenic	1 lab	4fb3ecdc0b
6:111665248 REV3L TA>T	6	111665248	111665257	TA	T	REV3L	c.7186-3del	NM_001286431.2	NP_001273360.1:p.?	NC_000006.11:g.111665257del	(Likely) benign	1 lab	4fb43a1ed1
6:129759787 LAMA2 G>A	6	129759787	129759787	G	A	LAMA2	c.5969-4G>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129759787G>A	(Likely) benign	1 lab	4fb5df0267
17:7500897 MISSING T>Alt too long to show for this DUP	17	7500897	7544283	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.7500900_7544283dup	VUS	1 lab	4fbbd52b7d
14:29237108 FOXG1 A>G	14	29237108	29237108	A	G	FOXG1	c.623A>G	NM_005249.5	NP_005240.3:p.(Tyr208Cys)	NC_000014.8:g.29237108A>G	(Likely) pathogenic	1 lab	4fc0026c8d
14:68234367 MISSING A>Alt too long to show for this DUP	14	68234367	68301837	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.68234368_68301837dup	VUS	1 lab	4fc1092059
7:65551821 ASL C>T	7	65551821	65551821	C	T	ASL	c.602+13C>T	NM_001024943.2	NP_001020114.1:p.?	NC_000007.13:g.65551821C>T	(Likely) benign	1 lab	4fc36c4a82
11:116706504 APOA1 G>C	11	116706504	116706504	G	C	APOA1	c.*20C>G	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116706504G>C	VUS	1 lab	4fc4a41068
X:70356193 MED12 G>A	X	70356193	70356193	G	A	MED12	c.5088G>A	NM_005120.3	NP_005111.2:p.(Pro1696=)	NC_000023.10:g.70356193G>A	(Likely) benign	1 lab	4fcbbefe71
12:21375306 SLCO1B1 G>GAAA	12	21375306	21375332	G	GAAA	SLCO1B1	c.1747+32_1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375330_21375332dup	(Likely) benign	1 lab	4fce1caca9
17:36486010 GPR179 C>T	17	36486010	36486010	C	T	GPR179	c.3442G>A	NM_001004334.4	NP_001004334.3:p.(Asp1148Asn)	NC_000017.10:g.36486010C>T	(Likely) benign	1 lab	4fd3fd278f
6:56490058 DST T>C	6	56490058	56490058	T	C	DST	c.4628A>G	NM_001144769.5	NP_001138241.1:p.(Tyr1543Cys)	NC_000006.11:g.56490058T>C	VUS	1 lab	4fd89fe51c
2:177036754 HOXD3 T>C	2	177036754	177036754	T	C	HOXD3	c.1051T>C	NM_006898.5	NP_008829.3:p.(Leu351=)	NC_000002.11:g.177036754T>C	(Likely) benign	1 lab	4fda3419a8
12:32778708 FGD4 G>T	12	32778708	32778708	G	T	FGD4	c.1756G>T	NM_139241.3	NP_640334.2:p.(Gly586Ter)	NC_000012.11:g.32778708G>T	(Likely) pathogenic	1 lab	4fdcd543da
2:179447090 TTN A>G	2	179447090	179447090	A	G	TTN	c.66093T>C	NM_001267550.2	NP_001254479.2:p.(Cys22031=)	NC_000002.11:g.179447090A>G	(Likely) benign	1 lab	4fe1d8f713
19:42830531 MEGF8 G>T	19	42830531	42830531	G	T	MEGF8	c.136G>T	NM_001271938.2	NP_001258867.1:p.(Asp46Tyr)	NC_000019.9:g.42830531G>T	(Likely) pathogenic	1 lab	4fe1e675d9
20:47592725 ARFGEF2 C>T	20	47592725	47592725	C	T	ARFGEF2	c.1947C>T	NM_006420.3	NP_006411.2:p.(His649=)	NC_000020.10:g.47592725C>T	(Likely) benign	1 lab	4fe21e9525
4:100512891 MTTP A>C	4	100512891	100512891	A	C	MTTP	c.702A>C	NM_000253.4	NP_000244.2:p.(Glu234Asp)	NC_000004.11:g.100512891A>C	VUS	1 lab	4fe414b0b9
1:35250961 GJB3 G>A	1	35250961	35250961	G	A	GJB3	c.598G>A	NM_024009.3	NP_076872.1:p.(Val200Ile)	NC_000001.10:g.35250961G>A	(Likely) benign	1 lab	4fe7c2e342
19:9012840 MUC16 G>A	19	9012840	9012840	G	A	MUC16	c.38604C>T	NM_024690.2	NP_078966.2:p.(Tyr12868=)	NC_000019.9:g.9012840G>A	(Likely) benign	1 lab	4fe7f31806
5:172659905 NKX2-5 AGGC>A	5	172659905	172659922	AGGC	A	NKX2-5	c.639_641del	NM_004387.4	NP_004378.1:p.(Pro214del)	NC_000005.9:g.172659920_172659922del	(Likely) benign	1 lab	4feb13ab61
14:45669170 FANCM C>T	14	45669170	45669170	C	T	FANCM	c.6106C>T	NM_020937.4	NP_065988.1:p.(Pro2036Ser)	NC_000014.8:g.45669170C>T	VUS	1 lab	4fecef0c45
19:50902077 POLD1 A>G	19	50902077	50902077	A	G	POLD1	c.-4-28A>G	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50902077A>G	(Likely) benign	1 lab	4fede74f60
16:67976965 LCAT T>G	16	67976965	67976965	T	G	LCAT	c.305A>C	NM_000229.2	NP_000220.1:p.(Asn102Thr)	NC_000016.9:g.67976965T>G	(Likely) pathogenic	1 lab	4fee5ad231
14:102452563 DYNC1H1 T>C	14	102452563	102452563	T	C	DYNC1H1	c.2001T>C	NM_001376.5	NP_001367.2:p.(Asp667=)	NC_000014.8:g.102452563T>C	(Likely) benign	1 lab	4ff08256e1
19:7605015 PNPLA6 G>A	19	7605015	7605015	G	A	PNPLA6	c.582-20G>A	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7605015G>A	(Likely) benign	1 lab	4ff65c2ff1
1:20971980 PINK1 C>CA	1	20971980	20971997	C	CA	PINK1	c.960-56dup	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20971997dup	(Likely) benign	1 lab	4ffb5fca0f
1:25893320 LDLRAP1 A>C	1	25893320	25893320	A	C	LDLRAP1	c.783-19A>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893320A>C	VUS	1 lab	4ffc6c8a6d
6:32064098 TNXB C>T	6	32064098	32064098	C	T	TNXB	c.1532G>A	NM_019105.8	NP_061978.6:p.(Arg511His)	NC_000006.11:g.32064098C>T	(Likely) benign	1 lab	502595b848
5:138264911 CTNNA1 C>T	5	138264911	138264911	C	T	CTNNA1	c.1900-24C>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138264911C>T	(Likely) benign	1 lab	500082fba5
1:224337207 MISSING T>Alt too long to show for this DUP	1	224337207	224441683	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.224337208_224441683dup	VUS	1 lab	50068fa5f2
X:118604367 SLC25A5 C>T	X	118604367	118604367	C	T	SLC25A5	c.630C>T	NM_001152.5	NP_001143.2:p.(Ile210=)	NC_000023.10:g.118604367C>T	(Likely) benign	1 lab	500b8262a1
6:7580228 DSP C>T	6	7580228	7580228	C	T	DSP	c.3805C>T	NM_004415.4	NP_004406.2:p.(Arg1269Ter)	NC_000006.11:g.7580228C>T	(Likely) pathogenic	1 lab	500c3ce95e
12:110956667 MISSING T>Alt too long to show for this DUP	12	110956667	110998345	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.110956670_110998345dup	VUS	1 lab	500e3816ea
19:11222257 LDLR G>C	19	11222257	11222257	G	C	LDLR	c.1128G>C	NM_000527.5	NP_000518.1:p.(Lys376Asn)	NC_000019.9:g.11222257G>C	VUS	1 lab	500e5816f7
1:116244050 CASQ2 G>A	1	116244050	116244050	G	A	CASQ2	c.1015-3C>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116244050G>A	(Likely) benign	1 lab	500e964c4e
10:67862933 CTNNA3 G>A	10	67862933	67862933	G	A	CTNNA3	c.1959C>T	NM_013266.4	NP_037398.2:p.(Thr653=)	NC_000010.10:g.67862933G>A	(Likely) benign	1 lab	500ff8ccab
7:150655593 KCNH2 G>A	7	150655593	150655593	G	A	KCNH2	c.473-3C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150655593G>A	VUS	1 lab	50205bba5b
8:11666218 FDFT1 GTCCCACTCCCAC>G	8	11666218	11666257	GTCCCACTCCCAC	G	FDFT1	c.220_231del	NM_001287750.2	NP_001274679.1:p.(His74_Ser77del)	NC_000008.10:g.11666246_11666257del	(Likely) benign	1 lab	5011a670ad
11:1017756 MUC6 A>G	11	1017756	1017756	A	G	MUC6	c.5045T>C	NM_005961.3	NP_005952.2:p.(Leu1682Pro)	NC_000011.9:g.1017756A>G	(Likely) benign	1 lab	5013634575
16:1634293 IFT140 A>G	16	1634293	1634293	A	G	IFT140	c.1284T>C	NM_014714.4	NP_055529.2:p.(Asn428=)	NC_000016.9:g.1634293A>G	(Likely) benign	1 lab	5013de3319
1:147428068 MISSING Ref too long to show for this DEL>T	1	147428068	147929323	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.147428069_147929323del	(Likely) pathogenic	1 lab	5014a9590e
X:32366647 DMD T>TA	X	32366647	32366656	T	TA	DMD	c.4957-3dup	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32366656dup	(Likely) benign	1 lab	501613b9a0
13:23898509 SGCG T>C	13	23898509	23898509	T	C	SGCG	c.705T>C	NM_000231.3	NP_000222.2:p.(Leu235=)	NC_000013.10:g.23898509T>C	(Likely) benign	1 lab	5016b85b74
11:121367557 SORL1 CT>C	11	121367557	121367570	CT	C	SORL1	c.759-8del	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121367570del	(Likely) benign	1 lab	5016fcb5cc
6:161014751 LPA T>C	6	161014751	161014751	T	C	LPA	c.3629+239A>G	NM_005577.4	NP_005568.2:p.?	NC_000006.11:g.161014751T>C	(Likely) benign	1 lab	5018991948
12:48379542 COL2A1 C>A	12	48379542	48379542	C	A	COL2A1	c.1649G>T	NM_001844.5	NP_001835.3:p.(Arg550Leu)	NC_000012.11:g.48379542C>A	(Likely) benign	1 lab	501bcfe6c4
9:113276356 SVEP1 C>G	9	113276356	113276356	C	G	SVEP1	c.995G>C	NM_153366.4	NP_699197.3:p.(Gly332Ala)	NC_000009.11:g.113276356C>G	(Likely) benign	1 lab	501cc6375a
7:103206013 RELN T>A	7	103206013	103206013	T	A	RELN	c.4937-15A>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206013T>A	(Likely) benign	1 lab	501f9909c8
16:1004369 LMF1 A>G	16	1004369	1004369	A	G	LMF1	c.164T>C	NM_001352019.2	NP_001338948.1:p.(Val55Ala)	NC_000016.9:g.1004369A>G	(Likely) benign	1 lab	50205353ca
8:59410817 CYP7A1 T>A	8	59410817	59410817	T	A	CYP7A1	c.292A>T	NM_000780.4	NP_000771.2:p.(Lys98Ter)	NC_000008.10:g.59410817T>A	(Likely) pathogenic	1 lab	5020ce6bfa
12:118020118 KSR2 A>G	12	118020118	118020118	A	G	KSR2	c.1218T>C	NM_173598.6	NP_775869.4:p.(Asp406=)	NC_000012.11:g.118020118A>G	(Likely) benign	1 lab	5022e8a341
2:220290651 DES G>C	2	220290651	220290651	G	C	DES	c.1372-20G>C	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220290651G>C	(Likely) benign	1 lab	5022f14d2a
10:89623026 KLLN TGCAAAAGCCGCA>T	10	89623026	89623042	TGCAAAAGCCGCA	T	KLLN	c.-794_-783del	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623031_89623042del	VUS	1 lab	5028c5a583
5:7878192 MTRR T>C	5	7878192	7878192	T	C	MTRR	c.537T>C	NM_002454.3	NP_002445.2:p.(Leu179=)	NC_000005.9:g.7878192T>C	(Likely) benign	1 lab	502b182d79
2:21255259 APOB G>A	2	21255259	21255259	G	A	APOB	c.1319C>T	NM_000384.3	NP_000375.3:p.(Ala440Val)	NC_000002.11:g.21255259G>A	VUS	1 lab	502c00d8a4
15:100988272 MISSING T>Alt too long to show for this DUP	15	100988272	101616703	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.100988274_101616703dup	VUS	1 lab	502d27563e
8:145621728 CPSF1 A>G	8	145621728	145621728	A	G	CPSF1	c.2827-13T>C	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145621728A>G	(Likely) benign	1 lab	502eaf2e4a
9:107550857 ABCA1 G>A	9	107550857	107550857	G	A	ABCA1	c.5928-9C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550857G>A	(Likely) benign	1 lab	50313ff643
19:55668481 TNNI3 T>G	19	55668481	55668481	T	G	TNNI3	c.45A>C	NM_000363.5	NP_000354.4:p.(Ala15=)	NC_000019.9:g.55668481T>G	(Likely) benign	1 lab	503adf2483
2:21238260 APOB T>C	2	21238260	21238260	T	C	APOB	c.3490A>G	NM_000384.3	NP_000375.3:p.(Arg1164Gly)	NC_000002.11:g.21238260T>C	VUS	1 lab	503b5a204a
3:132408098 NPHP3 A>G	3	132408098	132408098	A	G	NPHP3	c.2703T>C	NM_153240.5	NP_694972.3:p.(Phe901=)	NC_000003.11:g.132408098A>G	(Likely) benign	1 lab	503d58f3bd
2:44102452 ABCG8 G>A	2	44102452	44102452	G	A	ABCG8	c.1656G>A	NM_022437.3	NP_071882.1:p.(Leu552=)	NC_000002.11:g.44102452G>A	(Likely) benign	1 lab	503e0693ed
2:110962470 NPHP1 A>G	2	110962470	110962470	A	G	NPHP1	c.69+7T>C	NM_000272.5	NP_000263.2:p.?	NC_000002.11:g.110962470A>G	(Likely) benign	1 lab	518683faed
9:137702958 COL5A1 G>A	9	137702958	137702958	G	A	COL5A1	c.3529-227G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137702958G>A	(Likely) benign	1 lab	5043893536
22:44083353 EFCAB6 A>T	22	44083353	44083353	A	T	EFCAB6	c.1140T>A	NM_022785.4	NP_073622.2:p.(Asn380Lys)	NC_000022.10:g.44083353A>T	(Likely) benign	1 lab	50464f5022
9:451977 DOCK8 ATTTTTTTTTTTT>A	9	451977	452002	ATTTTTTTTTTTT	A	DOCK8	c.5962-20_5962-9del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451991_452002del	(Likely) benign	1 lab	5049dbbe7c
19:11223663 LDLR CTTTTTT>C	19	11223663	11223685	CTTTTTT	C	LDLR	c.1187-274_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223680_11223685del	(Likely) benign	1 lab	504d2890ba
2:21234631 APOB G>A	2	21234631	21234631	G	A	APOB	c.5109C>T	NM_000384.3	NP_000375.3:p.(Ala1703=)	NC_000002.11:g.21234631G>A	(Likely) benign	1 lab	504dd3b36f
18:29121260 DSG2 G>C	18	29121260	29121260	G	C	DSG2	c.1984G>C	NM_001943.5	NP_001934.2:p.(Ala662Pro)	NC_000018.9:g.29121260G>C	VUS	1 lab	504dd76783
1:154163733 TPM3 G>C	1	154163733	154163733	G	C	TPM3	c.172C>G	NM_152263.4	NP_689476.2:p.(Leu58Val)	NC_000001.10:g.154163733G>C	VUS	1 lab	504e0ed8ba
3:119084331 ARHGAP31 A>G	3	119084331	119084331	A	G	ARHGAP31	c.203+66A>G	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119084331A>G	(Likely) benign	1 lab	504fe1b271
6:32046464 TNXB G>T	6	32046464	32046464	G	T	TNXB	c.4375+346C>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32046464G>T	(Likely) benign	1 lab	505200d7de
18:47095522 LIPG C>T	18	47095522	47095522	C	T	LIPG	c.460-285C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095522C>T	(Likely) benign	1 lab	5052c34ffd
16:28488582 MISSING Ref too long to show for this DEL>C	16	28488582	30198611	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.28488583_30198611del	(Likely) pathogenic	1 lab	505560b08c
2:21229470 APOB A>G	2	21229470	21229470	A	G	APOB	c.10270T>C	NM_000384.3	NP_000375.3:p.(Ser3424Pro)	NC_000002.11:g.21229470A>G	VUS	1 lab	50588a5f2a
8:61707581 CHD7 G>T	8	61707581	61707581	G	T	CHD7	c.2133G>T	NM_017780.4	NP_060250.2:p.(Lys711Asn)	NC_000008.10:g.61707581G>T	(Likely) pathogenic	1 lab	5058c703bb
11:44146329 EXT2 T>G	11	44146329	44146329	T	G	EXT2	c.843-10T>G	NM_000401.3	NP_000392.3:p.?	NC_000011.9:g.44146329T>G	(Likely) benign	1 lab	5058e6f381
1:12071567 MFN2 G>C	1	12071567	12071567	G	C	MFN2	c.2219G>C	NM_014874.4	NP_055689.1:p.(Trp740Ser)	NC_000001.10:g.12071567G>C	(Likely) pathogenic	1 lab	505bcd49a2
1:155630552 YY1AP1 T>C	1	155630552	155630552	T	C	YY1AP1	c.1563A>G	NM_001198903.1	NP_001185832.1:p.(Leu521=)	NC_000001.10:g.155630552T>C	(Likely) benign	1 lab	505c85bd43
14:92548744 ATXN3 A>G	14	92548744	92548744	A	G	ATXN3	c.675T>C	NM_004993.6	NP_004984.2:p.(Asp225=)	NC_000014.8:g.92548744A>G	(Likely) benign	1 lab	505f57b168
5:58270525 PDE4D G>C	5	58270525	58270525	G	C	PDE4D	c.1628C>G	NM_001364604.1	NP_001351533.1:p.(Ala543Gly)	NC_000005.9:g.58270525G>C	(Likely) benign	1 lab	50606f20d7
18:57134004 CCBE1 A>G	18	57134004	57134004	A	G	CCBE1	c.520T>C	NM_133459.4	NP_597716.1:p.(Cys174Arg)	NC_000018.9:g.57134004A>G	(Likely) pathogenic	1 lab	5060c38527
X:70443460 GJB1 G>C	X	70443460	70443460	G	C	GJB1	c.-16-82G>C	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443460G>C	(Likely) benign	1 lab	506562b870
12:21918867 KCNJ8 G>A	12	21918867	21918867	G	A	KCNJ8	c.1065C>T	NM_004982.4	NP_004973.1:p.(Ala355=)	NC_000012.11:g.21918867G>A	(Likely) benign	1 lab	506797dfed
X:100662449 GLA C>CGA	X	100662449	100662469	C	CGA	GLA	c.194+247_194+248dup	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100662468_100662469dup	(Likely) benign	1 lab	5067e2d052
1:119964807 HSD3B2 TGGCCTGGGCCCACATTCTGGCCTTGAG>T	1	119964807	119964837	TGGCCTGGGCCCACATTCTGGCCTTGAG	T	HSD3B2	c.687_713del	NM_001166120.2	NP_001159592.1:p.(Trp230_Ala238del)	NC_000001.10:g.119964811_119964837del	(Likely) pathogenic	1 lab	506c8f4b18
X:70443863 GJB1 G>GA	X	70443863	70443865	G	GA	GJB1	c.308dup	NM_000166.6	NP_000157.1:p.(Lys104GlufsTer6)	NC_000023.10:g.70443865dup	(Likely) pathogenic	1 lab	50707c33b9
14:102508000 DYNC1H1 A>G	14	102508000	102508000	A	G	DYNC1H1	c.12031A>G	NM_001376.5	NP_001367.2:p.(Thr4011Ala)	NC_000014.8:g.102508000A>G	(Likely) benign	1 lab	507136483d
9:87570261 NTRK2 G>A	9	87570261	87570261	G	A	NTRK2	c.1953G>A	NM_001369532.1	NP_001356461.1:p.(Ser651=)	NC_000009.11:g.87570261G>A	(Likely) benign	1 lab	5072ed0be8
22:22311347 MISSING Ref too long to show for this DEL>A	22	22311347	22578984	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22311349_22578984del	VUS	1 lab	507776450c
2:230657820 TRIP12 T>C	2	230657820	230657820	T	C	TRIP12	c.3929A>G	NM_001284214.2	NP_001271143.1:p.(Asn1310Ser)	NC_000002.11:g.230657820T>C	VUS	1 lab	5078eeaa38
1:152186686 HRNR G>A	1	152186686	152186686	G	A	HRNR	c.7419C>T	NM_001009931.3	NP_001009931.1:p.(Tyr2473=)	NC_000001.10:g.152186686G>A	(Likely) benign	1 lab	5079808f94
11:2591932 KCNQ1 C>T	11	2591932	2591932	C	T	KCNQ1	c.552C>T	NM_000218.3	NP_000209.2:p.(Tyr184=)	NC_000011.9:g.2591932C>T	(Likely) benign	1 lab	507c061d87
7:94037655 COL1A2 G>A	7	94037655	94037655	G	A	COL1A2	c.701G>A	NM_000089.4	NP_000080.2:p.(Arg234His)	NC_000007.13:g.94037655G>A	VUS	1 lab	507dbb1bb4
9:137717708 COL5A1 C>CG	9	137717708	137717714	C	CG	COL5A1	c.5031dup	NM_000093.5	NP_000084.3:p.(Ser1678ValfsTer7)	NC_000009.11:g.137717714dup	(Likely) pathogenic	1 lab	50809cc1f7
1:55523076 PCSK9 C>T	1	55523076	55523076	C	T	PCSK9	c.1069C>T	NM_174936.4	NP_777596.2:p.(Arg357Cys)	NC_000001.10:g.55523076C>T	VUS	1 lab	5080d442fc
16:29517721 MISSING Ref too long to show for this DEL>A	16	29517721	30321321	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29517724_30321321del	(Likely) pathogenic	1 lab	508533b922
4:114288870 ANK2 C>T	4	114288870	114288870	C	T	ANK2	c.11181C>T	NM_001148.6	NP_001139.3:p.(Gly3727=)	NC_000004.11:g.114288870C>T	(Likely) benign	1 lab	5085d36c2c
18:19433099 MIB1 A>G	18	19433099	19433099	A	G	MIB1	c.2587-2A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19433099A>G	VUS	1 lab	508807dc95
12:125271998 SCARB1 G>T	12	125271998	125271998	G	T	SCARB1	c.1208C>A	NM_005505.5	NP_005496.4:p.(Thr403Asn)	NC_000012.11:g.125271998G>T	VUS	1 lab	508c0f2221
10:95372876 PDE6C AAAG>A	10	95372876	95372882	AAAG	A	PDE6C	c.398_400del	NM_006204.4	NP_006195.3:p.(Glu133del)	NC_000010.10:g.95372880_95372882del	VUS	1 lab	508fa18a68
3:38628946 SCN5A A>G	3	38628946	38628946	A	G	SCN5A	c.2381T>C	NM_198056.3	NP_932173.1:p.(Met794Thr)	NC_000003.11:g.38628946A>G	VUS	1 lab	5092238011
4:47880383 MISSING Ref too long to show for this DEL>A	4	47880383	48025643	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.47880384_48025643del	VUS	1 lab	50933997db
10:91007136 LIPA CAAAAAAAAAA>C	10	91007136	91007168	CAAAAAAAAAA	C	LIPA	c.111+149_111+158del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007159_91007168del	(Likely) benign	1 lab	509761106f
8:100403767 VPS13B C>A	8	100403767	100403767	C	A	VPS13B	c.2935-18C>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100403767C>A	(Likely) benign	1 lab	509b6f542e
X:106110076 TBC1D8B G>A	X	106110076	106110076	G	A	TBC1D8B	c.2712G>A	NM_017752.3	NP_060222.2:p.(Lys904=)	NC_000023.10:g.106110076G>A	(Likely) benign	1 lab	509e2bd8e6
X:48763825 SLC35A2 G>A	X	48763825	48763825	G	A	SLC35A2	c.359-5C>T	NM_001282651.2	NP_001269580.1:p.?	NC_000023.10:g.48763825G>A	(Likely) benign	1 lab	50a230401b
5:67591246 PIK3R1 A>G	5	67591246	67591246	A	G	PIK3R1	c.1746-2A>G	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67591246A>G	(Likely) pathogenic	1 lab	50a308f92e
16:86601238 FOXC2 C>G	16	86601238	86601238	C	G	FOXC2	c.297C>G	NM_005251.3	NP_005242.1:p.(Tyr99Ter)	NC_000016.9:g.86601238C>G	(Likely) pathogenic	1 lab	50a4debc16
2:134226833 MISSING Ref too long to show for this DEL>G	2	134226833	134374074	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.134226834_134374074del	VUS	1 lab	50a86b03f8
16:21413995 NPIPB3 G>C	16	21413995	21413995	G	C	NPIPB3	c.3012C>G	NM_130464.3	NP_569731.2:p.(Ala1004=)	NC_000016.9:g.21413995G>C	(Likely) benign	1 lab	50a94bae1d
11:108206631 ATM A>G	11	108206631	108206631	A	G	ATM	c.8211A>G	NM_000051.4	NP_000042.3:p.(Thr2737=)	NC_000011.9:g.108206631A>G	(Likely) benign	1 lab	50aaca79af
17:48264448 COL1A1 A>G	17	48264448	48264448	A	G	COL1A1	c.3459T>C	NM_000088.4	NP_000079.2:p.(Asp1153=)	NC_000017.10:g.48264448A>G	(Likely) benign	1 lab	50ad17b2e6
10:103826266 HPS6 G>A	10	103826266	103826266	G	A	HPS6	c.1035G>A	NM_024747.6	NP_079023.2:p.(Arg345=)	NC_000010.10:g.103826266G>A	(Likely) benign	1 lab	50ae29fd67
1:241663902 FH T>TGAGAGAGAGAGAGAGAGA	1	241663902	241663940	T	TGAGAGAGAGAGAGAGAGA	FH	c.1237-30_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663923_241663940dup	(Likely) benign	1 lab	50b43553ae
1:103379977 COL11A1 G>A	1	103379977	103379977	G	A	COL11A1	c.3961-16C>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103379977G>A	(Likely) benign	1 lab	50b45807ce
7:128482389 FLNC CT>C	7	128482389	128482390	CT	C	FLNC	c.2227del	NM_001458.5	NP_001449.3:p.(Ser743ProfsTer5)	NC_000007.13:g.128482390del	(Likely) pathogenic	1 lab	50b6edb5c3
17:58236802 CA4 G>A	17	58236802	58236802	G	A	CA4	c.*17G>A	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58236802G>A	(Likely) benign	1 lab	50b7316492
9:77275609 RORB G>A	9	77275609	77275609	G	A	RORB	c.714G>A	NM_006914.4	NP_008845.2:p.(Ala238=)	NC_000009.11:g.77275609G>A	(Likely) benign	1 lab	50b7370bd2
2:179615018 TTN GTTTT>G	2	179615018	179615022	GTTTT	G	TTN	c.11311+2829_11311+2832del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615019_179615022del	(Likely) benign	1 lab	50bb733a54
5:127641185 FBN2 A>C	5	127641185	127641185	A	C	FBN2	c.5674+18T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641185A>C	(Likely) benign	1 lab	50bcd962f1
7:100859215 PLOD3 G>T	7	100859215	100859215	G	T	PLOD3	c.589C>A	NM_001084.5	NP_001075.1:p.(Arg197=)	NC_000007.13:g.100859215G>T	(Likely) benign	1 lab	50bcf1d1cb
15:85383525 ALPK3 C>T	15	85383525	85383525	C	T	ALPK3	c.1015C>T	NM_020778.5	NP_065829.4:p.(Arg339Cys)	NC_000015.9:g.85383525C>T	(Likely) benign	1 lab	50bf582ba8
8:68066254 CSPP1 T>C	8	68066254	68066254	T	C	CSPP1	c.1079-5T>C	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68066254T>C	(Likely) benign	1 lab	50bfcd6a8b
5:147821625 FBXO38 A>G	5	147821625	147821625	A	G	FBXO38	c.3257A>G	NM_030793.5	NP_110420.3:p.(Lys1086Arg)	NC_000005.9:g.147821625A>G	VUS	1 lab	50c0d9cfef
X:131331563 MISSING G>Alt too long to show for this DUP	X	131331563	131549339	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.131331567_131549339dup	VUS	1 lab	50c209ca6d
1:110169957 AMPD2 A>G	1	110169957	110169957	A	G	AMPD2	c.668+19A>G	NM_001257361.2	NP_001244290.1:p.?	NC_000001.10:g.110169957A>G	(Likely) benign	1 lab	50c2dea2f3
11:108192165 ATM C>T	11	108192165	108192165	C	T	ATM	c.6572+18C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108192165C>T	(Likely) benign	1 lab	50c4bd8c80
15:48805778 FBN1 T>C	15	48805778	48805778	T	C	FBN1	c.1556A>G	NM_000138.5	NP_000129.3:p.(Tyr519Cys)	NC_000015.9:g.48805778T>C	(Likely) pathogenic	1 lab	50c8eafa32
14:30139742 PRKD1 Ref too long to show for this DEL>T	14	30139742	30149332	Ref too long to show for this DEL	T	PRKD1	c.404-13918_404-4329del	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30139743_30149332del	VUS	1 lab	50cb30d012
2:179449422 TTN G>A	2	179449422	179449422	G	A	TTN	c.64946C>T	NM_001267550.2	NP_001254479.2:p.(Pro21649Leu)	NC_000002.11:g.179449422G>A	VUS	1 lab	50cc8256d9
1:26387759 TRIM63 G>T	1	26387759	26387759	G	T	TRIM63	c.399C>A	NM_032588.4	NP_115977.2:p.(Tyr133Ter)	NC_000001.10:g.26387759G>T	(Likely) pathogenic	1 lab	50cca6f4e5
15:44881603 SPG11 C>A	15	44881603	44881603	C	A	SPG11	c.4753G>T	NM_025137.4	NP_079413.3:p.(Ala1585Ser)	NC_000015.9:g.44881603C>A	(Likely) benign	1 lab	50ccddc59e
6:75887611 COL12A1 A>C	6	75887611	75887611	A	C	COL12A1	c.2205T>G	NM_004370.6	NP_004361.3:p.(Thr735=)	NC_000006.11:g.75887611A>C	(Likely) benign	1 lab	50d069403d
6:66412959 MISSING Ref too long to show for this DEL>C	6	66412959	66549675	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.66412963_66549675del	VUS	1 lab	50d81995c6
2:220494923 SLC4A3 C>T	2	220494923	220494923	C	T	SLC4A3	c.741C>T	NM_001326559.2	NP_001313488.2:p.(Ser247=)	NC_000002.11:g.220494923C>T	(Likely) benign	1 lab	50e4bf428e
11:108192081 ATM T>G	11	108192081	108192081	T	G	ATM	c.6506T>G	NM_000051.4	NP_000042.3:p.(Leu2169Arg)	NC_000011.9:g.108192081T>G	VUS	1 lab	50e6fb0f39
4:114295926 ANK2 T>C	4	114295926	114295926	T	C	ANK2	c.11859+1321T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114295926T>C	(Likely) benign	1 lab	50e7087193
19:54631711 PRPF31 ACGGAGATC>A	19	54631711	54631723	ACGGAGATC	A	PRPF31	c.1110_1117del	NM_015629.4	NP_056444.3:p.(Ile371AlafsTer101)	NC_000019.9:g.54631716_54631723del	(Likely) pathogenic	1 lab	50e973f7a7
1:196367602 MISSING T>Alt too long to show for this DUP	1	196367602	196741355	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.196367604_196741355dup	VUS	1 lab	50eb2946d2
8:39213948 MISSING G>Alt too long to show for this DUP	8	39213948	39384337	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.39213949_39384337dup	(Likely) benign	1 lab	50eb8add83
1:63067484 ANGPTL3 A>G	1	63067484	63067484	A	G	ANGPTL3	c.766A>G	NM_014495.4	NP_055310.1:p.(Thr256Ala)	NC_000001.10:g.63067484A>G	(Likely) benign	1 lab	50ec37e284
22:50678620 TUBGCP6 G>C	22	50678620	50678620	G	C	TUBGCP6	c.905+13C>G	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50678620G>C	(Likely) benign	1 lab	50ee2d4689
18:47095845 LIPG C>T	18	47095845	47095845	C	T	LIPG	c.498C>T	NM_006033.4	NP_006024.1:p.(Ile166=)	NC_000018.9:g.47095845C>T	(Likely) benign	1 lab	50f151df67
11:63411751 ATL3 G>A	11	63411751	63411751	G	A	ATL3	c.619-18C>T	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63411751G>A	(Likely) benign	1 lab	50f1684cc3
2:238449021 MLPH G>A	2	238449021	238449021	G	A	MLPH	c.1135G>A	NM_024101.7	NP_077006.1:p.(Asp379Asn)	NC_000002.11:g.238449021G>A	VUS	1 lab	50f1c79892
7:591063 PRKAR1B G>A	7	591063	591063	G	A	PRKAR1B	c.936C>T	NM_001164761.2	NP_001158233.1:p.(Tyr312=)	NC_000007.13:g.591063G>A	(Likely) benign	1 lab	50f201edb4
12:125284783 SCARB1 G>A	12	125284783	125284783	G	A	SCARB1	c.1015C>T	NM_005505.5	NP_005496.4:p.(Pro339Ser)	NC_000012.11:g.125284783G>A	VUS	1 lab	50f7aec830
8:24813985 NEFL C>T	8	24813985	24813985	C	T	NEFL	c.45G>A	NM_006158.5	NP_006149.2:p.(Lys15=)	NC_000008.10:g.24813985C>T	(Likely) benign	1 lab	50f8e72a7b
18:59774276 PIGN A>G	18	59774276	59774276	A	G	PIGN	c.1617T>C	NM_176787.5	NP_789744.1:p.(Tyr539=)	NC_000018.9:g.59774276A>G	(Likely) benign	1 lab	50f953d8cc
15:85400401 ALPK3 A>G	15	85400401	85400401	A	G	ALPK3	c.2432A>G	NM_020778.5	NP_065829.4:p.(Glu811Gly)	NC_000015.9:g.85400401A>G	VUS	1 lab	50fbb4d3e3
1:237666646 RYR2 G>A	1	237666646	237666646	G	A	RYR2	c.2454G>A	NM_001035.3	NP_001026.2:p.(Gly818=)	NC_000001.10:g.237666646G>A	(Likely) benign	1 lab	50ffc4ea6c
5:14378209 TRIO C>G	5	14378209	14378209	C	G	TRIO	c.3420C>G	NM_007118.4	NP_009049.2:p.(Tyr1140Ter)	NC_000005.9:g.14378209C>G	(Likely) pathogenic	1 lab	50ffffc377
12:125284743 SCARB1 G>A	12	125284743	125284743	G	A	SCARB1	c.1055C>T	NM_001367981.1	NP_001354910.1:p.(Pro352Leu)	NC_000012.11:g.125284743G>A	VUS	1 lab	5100da1b2f
4:77276593 CCDC158 G>GA	4	77276593	77276603	G	GA	CCDC158	c.2174-5dup	NM_001042784.1	NP_001036249.1:p.?	NC_000004.11:g.77276603dup	(Likely) benign	1 lab	51030e19bb
12:50501791 GPD1 C>T	12	50501791	50501791	C	T	GPD1	c.847-16C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501791C>T	(Likely) benign	1 lab	51068dbcb1
7:91700201 AKAP9 A>T	7	91700201	91700201	A	T	AKAP9	c.6508-18A>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91700201A>T	(Likely) benign	1 lab	5106c05e10
16:772780 CCDC78 G>C	16	772780	772780	G	C	CCDC78	c.1307C>G	NM_001031737.3	NP_001026907.2:p.(Thr436Arg)	NC_000016.9:g.772780G>C	VUS	1 lab	51076266a6
1:216380679 USH2A C>A	1	216380679	216380679	C	A	USH2A	c.3252G>T	NM_206933.4	NP_996816.3:p.(Trp1084Cys)	NC_000001.10:g.216380679C>A	VUS	1 lab	5108e72ad0
10:82007927 MISSING G>Alt too long to show for this DUP	10	82007927	82448182	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.82007929_82448182dup	VUS	1 lab	510a9f6026
16:57007359 CETP G>A	16	57007359	57007359	G	A	CETP	c.867G>A	NM_000078.3	NP_000069.2:p.(Ser289=)	NC_000016.9:g.57007359G>A	(Likely) benign	1 lab	510d2d2290
5:178551967 ADAMTS2 T>C	5	178551967	178551967	T	C	ADAMTS2	c.2958+7A>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178551967T>C	(Likely) benign	1 lab	510f11e07e
8:1791575 ARHGEF10 C>T	8	1791575	1791575	C	T	ARHGEF10	c.10C>T	NM_014629.4	NP_055444.2:p.(Arg4Ter)	NC_000008.10:g.1791575C>T	VUS	1 lab	5111e1db10
12:23699351 SOX5 G>GT	12	23699351	23699357	G	GT	SOX5	c.1456dup	NM_152989.5	NP_694534.1:p.(Thr486AsnfsTer13)	NC_000012.11:g.23699357dup	(Likely) pathogenic	1 lab	51150791ba
16:89348863 ANKRD11 G>A	16	89348863	89348863	G	A	ANKRD11	c.4087C>T	NM_001256182.2	NP_001243111.1:p.(Arg1363Ter)	NC_000016.9:g.89348863G>A	(Likely) pathogenic	1 lab	51151a25a8
6:75890932 COL12A1 T>TG	6	75890932	75890933	T	TG	COL12A1	c.1892-6_1892-5insC	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890932_75890933insG	(Likely) benign	1 lab	511695b8f5
5:110525613 MISSING T>Alt too long to show for this DUP	5	110525613	110670234	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.110525615_110670234dup	VUS	1 lab	511c66e700
19:47259446 FKRP C>A	19	47259446	47259446	C	A	FKRP	c.739C>A	NM_001039885.3	NP_001034974.1:p.(Pro247Thr)	NC_000019.9:g.47259446C>A	VUS	1 lab	511ebffd0e
20:57466734 GNAS CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCG>C	20	57466734	57466777	CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCG	C	GNAS	c.-34_-5del	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466748_57466777del	(Likely) benign	1 lab	511ee18279
10:103827481 HPS6 G>A	10	103827481	103827481	G	A	HPS6	c.2250G>A	NM_024747.6	NP_079023.2:p.(Ser750=)	NC_000010.10:g.103827481G>A	(Likely) benign	1 lab	511f0f8e7a
8:19813430 LPL CAAGT>C	8	19813430	19813437	CAAGT	C	LPL	c.858_861del	NM_000237.3	NP_000228.1:p.(Ser286ArgfsTer17)	NC_000008.10:g.19813434_19813437del	(Likely) pathogenic	1 lab	511ff45ebf
4:619708 PDE6B G>C	4	619708	619708	G	C	PDE6B	c.293G>C	NM_000283.4	NP_000274.3:p.(Arg98Pro)	NC_000004.11:g.619708G>C	(Likely) pathogenic	1 lab	512021c560
7:128483454 FLNC G>T	7	128483454	128483454	G	T	FLNC	c.2642-8G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483454G>T	(Likely) benign	1 lab	512119b701
11:47370684 MYBPC3 C>A	11	47370684	47370684	C	A	MYBPC3	c.655-592G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370684C>A	(Likely) benign	1 lab	512272d261
3:195511208 MUC4 T>G	3	195511208	195511208	T	G	MUC4	c.7243A>C	NM_018406.7	NP_060876.5:p.(Thr2415Pro)	NC_000003.11:g.195511208T>G	(Likely) benign	1 lab	512df32a27
19:11217336 LDLR A>C	19	11217336	11217336	A	C	LDLR	c.790A>C	NM_000527.5	NP_000518.1:p.(Met264Leu)	NC_000019.9:g.11217336A>C	VUS	1 lab	512edce317
15:58856311 LIPC A>T	15	58856311	58856311	A	T	LIPC	c.1388+389A>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856311A>T	(Likely) benign	1 lab	513551d26a
16:88802648 PIEZO1 G>C	16	88802648	88802648	G	C	PIEZO1	c.1465C>G	NM_001142864.4	NP_001136336.2:p.(Arg489Gly)	NC_000016.9:g.88802648G>C	(Likely) benign	1 lab	5137b72b19
11:66334727 CTSF C>T	11	66334727	66334727	C	T	CTSF	c.597G>A	NM_003793.4	NP_003784.2:p.(Glu199=)	NC_000011.9:g.66334727C>T	(Likely) benign	1 lab	513901038c
1:63063361 ANGPTL3 G>A	1	63063361	63063361	G	A	ANGPTL3	c.124G>A	NM_014495.4	NP_055310.1:p.(Asp42Asn)	NC_000001.10:g.63063361G>A	VUS	1 lab	513cfd0933
14:94845785 SERPINA1 G>T	14	94845785	94845785	G	T	SERPINA1	c.1065+16C>A	NM_001127701.2	NP_001121173.1:p.?	NC_000014.8:g.94845785G>T	(Likely) benign	1 lab	513d91a2b1
2:1499749 TPO CCTT>C	2	1499749	1499754	CCTT	C	TPO	c.2007-9_2007-7del	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1499752_1499754del	(Likely) benign	1 lab	514478fd9f
1:152189263 HRNR A>G	1	152189263	152189263	A	G	HRNR	c.4842T>C	NM_001009931.3	NP_001009931.1:p.(His1614=)	NC_000001.10:g.152189263A>G	(Likely) benign	1 lab	514a6f484b
22:50900094 SBF1 G>T	22	50900094	50900094	G	T	SBF1	c.2697C>A	NM_002972.4	NP_002963.2:p.(Gly899=)	NC_000022.10:g.50900094G>T	(Likely) benign	1 lab	51545030a7
2:74142232 MISSING C>Alt too long to show for this DUP	2	74142232	74238027	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74142234_74238027dup	VUS	1 lab	515708abb7
9:107578529 ABCA1 T>C	9	107578529	107578529	T	C	ABCA1	c.3633A>G	NM_005502.4	NP_005493.2:p.(Glu1211=)	NC_000009.11:g.107578529T>C	(Likely) benign	1 lab	5157d13d86
14:51178320 MISSING Ref too long to show for this DEL>A	14	51178320	51196516	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.51178321_51196516del	VUS	1 lab	51584868d8
16:4955354 MISSING Ref too long to show for this DEL>G	16	4955354	5048999	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.4955355_5048999del	VUS	1 lab	51592a29dd
17:41219700 BRCA1 T>C	17	41219700	41219700	T	C	BRCA1	c.4999A>G	NM_007294.4	NP_009225.1:p.(Lys1667Glu)	NC_000017.10:g.41219700T>C	VUS	1 lab	51598ec49f
5:92924169 NR2F1 G>A	5	92924169	92924169	G	A	NR2F1	c.991+19G>A	NM_005654.6	NP_005645.1:p.?	NC_000005.9:g.92924169G>A	(Likely) benign	1 lab	515aac20b5
2:21234577 APOB G>C	2	21234577	21234577	G	C	APOB	c.5163C>G	NM_000384.3	NP_000375.3:p.(Val1721=)	NC_000002.11:g.21234577G>C	(Likely) benign	1 lab	515b350f4a
15:34544420 SLC12A6 G>A	15	34544420	34544420	G	A	SLC12A6	c.1257C>T	NM_001042496.2	NP_001035961.1:p.(Asn419=)	NC_000015.9:g.34544420G>A	(Likely) benign	1 lab	515b7632eb
1:150525435 ADAMTSL4 G>A	1	150525435	150525435	G	A	ADAMTSL4	c.140G>A	NM_019032.6	NP_061905.2:p.(Trp47Ter)	NC_000001.10:g.150525435G>A	(Likely) pathogenic	1 lab	515b9a49b9
2:179495857 TTN G>A	2	179495857	179495857	G	A	TTN	c.36214C>T	NM_133378.4	NP_596869.4:p.(Arg12072Cys)	NC_000002.11:g.179495857G>A	VUS	1 lab	515bf59461
8:6235480 MISSING Ref too long to show for this DEL>A	8	6235480	6327674	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.6235485_6327674del	VUS	1 lab	515c177a19
19:45452520 APOC2 C>A	19	45452520	45452520	C	A	APOC2	c.*14C>A	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452520C>A	VUS	1 lab	515dbf613a
17:5056197 MISSING Ref too long to show for this DEL>A	17	5056197	5085238	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.5056198_5085238del	VUS	1 lab	515dc6cdeb
2:44101649 ABCG8 G>GC	2	44101649	44101655	G	GC	ABCG8	c.1488+33dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101655dup	(Likely) benign	1 lab	5160426146
7:94033611 COL1A2 A>G	7	94033611	94033611	A	G	COL1A2	c.280-257A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94033611A>G	(Likely) benign	1 lab	5160e82498
11:116701669 APOC3 G>A	11	116701669	116701669	G	A	APOC3	c.179+57G>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701669G>A	(Likely) benign	1 lab	51649a926e
15:66679678 MAP2K1 G>T	15	66679678	66679678	G	T	MAP2K1	c.-8G>T	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66679678G>T	(Likely) benign	1 lab	51676d554f
5:64063970 MISSING Ref too long to show for this DEL>C	5	64063970	64109199	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.64063973_64109199del	VUS	1 lab	516c27ee0f
19:6495268 TUBB4A G>C	19	6495268	6495268	G	C	TUBB4A	c.1242C>G	NM_006087.4	NP_006078.2:p.(Asn414Lys)	NC_000019.9:g.6495268G>C	(Likely) pathogenic	1 lab	516e500899
4:100512375 MTTP C>G	4	100512375	100512375	C	G	MTTP	c.502-17C>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512375C>G	(Likely) benign	1 lab	51704a3590
15:45444228 DUOX1 G>A	15	45444228	45444228	G	A	DUOX1	c.3171G>A	NM_017434.5	NP_059130.2:p.(Gly1057=)	NC_000015.9:g.45444228G>A	(Likely) benign	1 lab	51751abe13
10:92678748 ANKRD1 A>AATAT	10	92678748	92678773	A	AATAT	ANKRD1	c.346-23_346-20dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678770_92678773dup	(Likely) benign	1 lab	5175231fcd
18:58039330 MC4R T>C	18	58039330	58039330	T	C	MC4R	c.253A>G	NM_005912.3	NP_005903.2:p.(Ser85Gly)	NC_000018.9:g.58039330T>C	VUS	1 lab	5177484cca
8:19796730 LPL C>G	8	19796730	19796730	C	G	LPL				NC_000008.10:g.19796730C>G	VUS	1 lab	517764c417
16:46761131 MYLK3 C>T	16	46761131	46761131	C	T	MYLK3	c.1914+17G>A	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46761131C>T	(Likely) benign	1 lab	51795ad62a
18:34298140 FHOD3 C>T	18	34298140	34298140	C	T	FHOD3	c.2879C>T	NM_001281740.3	NP_001268669.1:p.(Pro960Leu)	NC_000018.9:g.34298140C>T	VUS	1 lab	5179d475ba
12:88481664 CEP290 G>T	12	88481664	88481664	G	T	CEP290	c.4087C>A	NM_025114.4	NP_079390.3:p.(Arg1363=)	NC_000012.11:g.88481664G>T	(Likely) benign	1 lab	5190e7ff89
9:138347824 MISSING C>Alt too long to show for this DUP	9	138347824	138400402	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.138347825_138400402dup	VUS	1 lab	517abdfb81
6:64940501 EYS G>T	6	64940501	64940501	G	T	EYS	c.6408C>A	NM_001292009.2	NP_001278938.1:p.(Gly2136=)	NC_000006.11:g.64940501G>T	(Likely) benign	1 lab	5185e9e585
12:110252545 TRPV4 G>A	12	110252545	110252545	G	A	TRPV4	c.57C>T	NM_021625.5	NP_067638.3:p.(Pro19=)	NC_000012.11:g.110252545G>A	(Likely) benign	1 lab	518a3b1b5d
12:50501926 GPD1 CA>C	12	50501926	50501927	CA	C	GPD1	c.953+14del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501927del	(Likely) benign	1 lab	518a96f69d
2:179615922 TTN T>G	2	179615922	179615922	T	G	TTN	c.11205A>C	NM_133379.5	NP_596870.2:p.(Glu3735Asp)	NC_000002.11:g.179615922T>G	(Likely) benign	1 lab	518e6138f0
8:110476775 PKHD1L1 C>A	8	110476775	110476775	C	A	PKHD1L1	c.7714C>A	NM_177531.6	NP_803875.2:p.(Arg2572=)	NC_000008.10:g.110476775C>A	(Likely) benign	1 lab	518e8943fd
8:59405037 CYP7A1 G>A	8	59405037	59405037	G	A	CYP7A1	c.1090C>T	NM_000780.4	NP_000771.2:p.(Arg364Trp)	NC_000008.10:g.59405037G>A	(Likely) pathogenic	1 lab	5194ebdedc
2:44073299 ABCG8 C>A	2	44073299	44073299	C	A	ABCG8	c.171C>A	NM_022437.3	NP_071882.1:p.(Asp57Glu)	NC_000002.11:g.44073299C>A	VUS	1 lab	5195562d39
5:130928278 RAPGEF6 Ref too long to show for this DEL>C	5	130928278	130955350	Ref too long to show for this DEL	C	RAPGEF6	c.70-14963_198-120del	NM_016340.6	NP_057424.3:p.?	NC_000005.9:g.130928280_130955350del	VUS	1 lab	519a462cdb
2:179471975 TTN C>G	2	179471975	179471975	C	G	TTN	c.53354G>C	NM_001267550.2	NP_001254479.2:p.(Trp17785Ser)	NC_000002.11:g.179471975C>G	VUS	1 lab	519d7c78df
2:44050045 ABCG5 C>T	2	44050045	44050045	C	T	ABCG5	c.1354G>A	NM_022436.3	NP_071881.1:p.(Glu452Lys)	NC_000002.11:g.44050045C>T	(Likely) pathogenic	1 lab	519db2d589
2:21229915 APOB T>C	2	21229915	21229915	T	C	APOB	c.9825A>G	NM_000384.3	NP_000375.3:p.(Pro3275=)	NC_000002.11:g.21229915T>C	(Likely) benign	1 lab	51a348b496
2:179432000 TTN GTCTA>G	2	179432000	179432008	GTCTA	G	TTN	c.78855_78858del	NM_001267550.2	NP_001254479.2:p.(Arg26286GlnfsTer20)	NC_000002.11:g.179432005_179432008del	(Likely) pathogenic	1 lab	51a6245a07
X:133398318 MISSING Ref too long to show for this DEL>C	X	133398318	140632867	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.133398319_140632867del	(Likely) pathogenic	1 lab	51a74663ed
5:223669 SDHA A>G	5	223669	223669	A	G	SDHA	c.136A>G	NM_004168.4	NP_004159.2:p.(Lys46Glu)	NC_000005.9:g.223669A>G	(Likely) benign	1 lab	51abe2695b
11:108203632 ATM G>GT	11	108203632	108203640	G	GT	ATM	c.7927+13dup	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108203640dup	(Likely) benign	1 lab	51ad50605d
12:49483699 DHH A>T	12	49483699	49483699	A	T	DHH	c.1134T>A	NM_021044.4	NP_066382.1:p.(Thr378=)	NC_000012.11:g.49483699A>T	(Likely) benign	1 lab	51aed84b52
16:904684 LMF1 T>C	16	904684	904684	T	C	LMF1	c.1153A>G	NM_001352018.2	NP_001338947.1:p.(Arg385Gly)	NC_000016.9:g.904684T>C	VUS	1 lab	51af13cdc5
8:52733121 PCMTD1 G>A	8	52733121	52733121	G	A	PCMTD1	c.864C>T	NM_052937.4	NP_443169.2:p.(Tyr288=)	NC_000008.10:g.52733121G>A	(Likely) benign	1 lab	51b55cea4d
11:47356935 MYBPC3 A>G	11	47356935	47356935	A	G	MYBPC3	c.2738-175T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356935A>G	(Likely) benign	1 lab	51b9060359
16:56995983 CETP G>A	16	56995983	56995983	G	A	CETP	c.92G>A	NM_000078.3	NP_000069.2:p.(Arg31His)	NC_000016.9:g.56995983G>A	VUS	1 lab	51bfd83d09
4:77996621 CCNI T>C	4	77996621	77996621	T	C	CCNI	c.-44+4A>G	NM_006835.3	NP_006826.1:p.?	NC_000004.11:g.77996621T>C	(Likely) benign	1 lab	51bff7832f
3:38601645 SCN5A AGAAGGG>A	3	38601645	38601651	AGAAGGG	A	SCN5A	c.4232_4237del	NM_001099404.2	NP_001092874.1:p.(Ala1411_Leu1413delinsVal)	NC_000003.11:g.38601646_38601651del	(Likely) benign	1 lab	51c7015803
2:189856503 COL3A1 A>G	2	189856503	189856503	A	G	COL3A1	c.951+55A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856503A>G	(Likely) benign	1 lab	51c751a4ab
7:154667643 DPP6 G>A	7	154667643	154667643	G	A	DPP6	c.1911G>A	NM_130797.4	NP_570629.2:p.(Val637=)	NC_000007.13:g.154667643G>A	(Likely) benign	1 lab	51c7cf702e
10:73055714 UNC5B C>T	10	73055714	73055714	C	T	UNC5B	c.2322C>T	NM_170744.5	NP_734465.2:p.(Tyr774=)	NC_000010.10:g.73055714C>T	(Likely) benign	1 lab	51c8ef4100
17:1679724 SERPINF1 A>C	17	1679724	1679724	A	C	SERPINF1	c.787-102A>C	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1679724A>C	(Likely) benign	1 lab	51c9dc5a78
3:123428031 MYLK A>G	3	123428031	123428031	A	G	MYLK	c.1943-289T>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123428031A>G	(Likely) benign	1 lab	51cc7379de
3:38797425 SCN10A T>C	3	38797425	38797425	T	C	SCN10A	c.1315A>G	NM_006514.4	NP_006505.4:p.(Thr439Ala)	NC_000003.11:g.38797425T>C	(Likely) benign	1 lab	51d08299f6
9:107646822 ABCA1 G>C	9	107646822	107646822	G	C	ABCA1	c.188C>G	NM_005502.4	NP_005493.2:p.(Ser63Cys)	NC_000009.11:g.107646822G>C	VUS	1 lab	51d2ce2f6b
15:58853657 LIPC C>T	15	58853657	58853657	C	T	LIPC	c.1169+477C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853657C>T	(Likely) benign	1 lab	51d2d8df3b
1:147380212 GJA8 G>A	1	147380212	147380212	G	A	GJA8	c.130G>A	NM_005267.5	NP_005258.2:p.(Val44Met)	NC_000001.10:g.147380212G>A	(Likely) pathogenic	1 lab	51d391544e
1:25881470 LDLRAP1 T>C	1	25881470	25881470	T	C	LDLRAP1	c.344+7T>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25881470T>C	(Likely) benign	1 lab	51e1c05a03
2:29416759 ALK C>G	2	29416759	29416759	C	G	ALK	c.4194G>C	NM_004304.5	NP_004295.2:p.(Pro1398=)	NC_000002.11:g.29416759C>G	(Likely) benign	1 lab	51d4e2b90b
X:70444030 GJB1 C>T	X	70444030	70444030	C	T	GJB1	c.473C>T	NM_000166.6	NP_000157.1:p.(Pro158Leu)	NC_000023.10:g.70444030C>T	VUS	1 lab	51d5df8766
2:21257783 APOB A>C	2	21257783	21257783	A	C	APOB	c.819-10T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257783A>C	VUS	1 lab	51d680940a
15:45403739 DUOX2 G>A	15	45403739	45403739	G	A	DUOX2	c.558C>T	NM_014080.5	NP_054799.4:p.(Gly186=)	NC_000015.9:g.45403739G>A	(Likely) benign	1 lab	51d9d5a4f9
6:30610610 ATAT1 G>GGCC	6	30610610	30610611	G	GGCC	ATAT1	c.790_791insGCC	NM_024909.5	NP_079185.2:p.(Ala264delinsGlyPro)	NC_000006.11:g.30610610_30610611insGCC	(Likely) benign	1 lab	51d9d6909f
15:48805791 FBN1 A>G	15	48805791	48805791	A	G	FBN1	c.1543T>C	NM_000138.5	NP_000129.3:p.(Cys515Arg)	NC_000015.9:g.48805791A>G	(Likely) pathogenic	1 lab	51dfc6a50e
1:237038007 MTR TTA>T	1	237038007	237038009	TTA	T	MTR	c.2474-18_2474-17del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038008_237038009del	(Likely) benign	1 lab	51e07c883b
8:117859942 RAD21 C>T	8	117859942	117859942	C	T	RAD21	c.1705-12G>A	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117859942C>T	(Likely) benign	1 lab	51e11a2d25
16:1005053 LMF1 A>G	16	1005053	1005053	A	G	LMF1	c.-361-387T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005053A>G	(Likely) benign	1 lab	51e3211d64
9:107645449 ABCA1 T>C	9	107645449	107645449	T	C	ABCA1	c.303-11A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645449T>C	(Likely) benign	1 lab	51e3fb149f
X:32472765 DMD T>A	X	32472765	32472765	T	A	DMD	c.3234+14A>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32472765T>A	(Likely) benign	1 lab	51e413ad3f
14:23890209 MYH7 C>A	14	23890209	23890209	C	A	MYH7	c.3294G>T	NM_000257.4	NP_000248.2:p.(Gln1098His)	NC_000014.8:g.23890209C>A	VUS	1 lab	51e8039dbb
2:202570161 ALS2 G>C	2	202570161	202570161	G	C	ALS2	c.4604C>G	NM_020919.4	NP_065970.2:p.(Ser1535Ter)	NC_000002.11:g.202570161G>C	(Likely) pathogenic	1 lab	51ec100ff7
1:55523077 PCSK9 G>A	1	55523077	55523077	G	A	PCSK9	c.1070G>A	NM_174936.4	NP_777596.2:p.(Arg357His)	NC_000001.10:g.55523077G>A	VUS	1 lab	51eedbe7ec
X:69626146 KIF4A A>G	X	69626146	69626146	A	G	KIF4A	c.3014A>G	NM_012310.5	NP_036442.3:p.(His1005Arg)	NC_000023.10:g.69626146A>G	VUS	1 lab	51f1865548
19:11239096 LDLR C>T	19	11239096	11239096	C	T	LDLR	c.2389+335C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239096C>T	(Likely) benign	1 lab	51f91e2313
19:36363207 MISSING Ref too long to show for this DEL>T	19	36363207	36371869	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.36363209_36371869del	VUS	1 lab	51fa4a3f77
X:69637730 MISSING T>Alt too long to show for this DUP	X	69637730	69649920	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69637731_69649920dup	VUS	1 lab	51fc5fa37b
8:19816880 LPL C>T	8	19816880	19816880	C	T	LPL	c.1128C>T	NM_000237.3	NP_000228.1:p.(Ile376=)	NC_000008.10:g.19816880C>T	(Likely) benign	1 lab	51ff7132a3
19:45451945 APOC2 T>A	19	45451945	45451945	T	A	APOC2	c.56-13T>A	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451945T>A	VUS	1 lab	5201cf17e3
12:21353557 SLCO1B1 C>T	12	21353557	21353557	C	T	SLCO1B1	c.1086C>T	NM_006446.5	NP_006437.3:p.(Tyr362=)	NC_000012.11:g.21353557C>T	(Likely) benign	1 lab	5202d96f1c
6:32551961 HLA-DRB1 G>GTC	6	32551961	32551962	G	GTC	HLA-DRB1	c.294_295insGA	NM_002124.4	NP_002115.2:p.(Gln99AspfsTer31)	NC_000006.11:g.32551961_32551962insTC	(Likely) benign	1 lab	5204aaf65c
11:22292008 ANO5 T>A	11	22292008	22292008	T	A	ANO5	c.2029+20T>A	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22292008T>A	(Likely) benign	1 lab	5205759fdc
2:189862648 COL3A1 G>A	2	189862648	189862648	G	A	COL3A1	c.1923+169G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862648G>A	(Likely) benign	1 lab	5207244ab6
2:105990173 FHL2 G>A	2	105990173	105990173	G	A	FHL2	c.174C>T	NM_201555.2	NP_963849.1:p.(Asp58=)	NC_000002.11:g.105990173G>A	(Likely) benign	1 lab	520cba06a6
12:126805152 MISSING Ref too long to show for this DEL>T	12	126805152	127833923	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.126805153_127833923del	VUS	1 lab	520d60ceaa
5:138264997 CTNNA1 G>A	5	138264997	138264997	G	A	CTNNA1	c.1962G>A	NM_001903.5	NP_001894.2:p.(Thr654=)	NC_000005.9:g.138264997G>A	(Likely) benign	1 lab	520ead50f8
10:32575773 EPC1 T>TA	10	32575773	32575784	T	TA	EPC1	c.1243-4dup	NM_025209.5	NP_079485.1:p.?	NC_000010.10:g.32575784dup	(Likely) benign	1 lab	5210be9a1a
1:236925901 ACTN2 C>T	1	236925901	236925901	C	T	ACTN2	c.2667C>T	NM_001103.4	NP_001094.1:p.(Tyr889=)	NC_000001.10:g.236925901C>T	(Likely) benign	1 lab	5213786371
3:141205963 RASA2 C>T	3	141205963	141205963	C	T	RASA2	c.38C>T	NM_001303246.3	NP_001290175.1:p.(Ser13Phe)	NC_000003.11:g.141205963C>T	(Likely) benign	1 lab	5215d30e35
15:48780427 FBN1 A>G	15	48780427	48780427	A	G	FBN1	c.3220T>C	NM_000138.5	NP_000129.3:p.(Cys1074Arg)	NC_000015.9:g.48780427A>G	(Likely) pathogenic	1 lab	5218beb044
17:7579358 TP53 C>T	17	7579358	7579358	C	T	TP53	c.329G>A	NM_000546.6	NP_000537.3:p.(Arg110His)	NC_000017.10:g.7579358C>T	(Likely) benign	1 lab	521a89d60f
3:57898327 SLMAP C>T	3	57898327	57898327	C	T	SLMAP	c.1868C>T	NM_001304420.3	NP_001291349.1:p.(Ala623Val)	NC_000003.11:g.57898327C>T	VUS	1 lab	521b9115fa
2:189860565 COL3A1 A>G	2	189860565	189860565	A	G	COL3A1	c.1608+49A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860565A>G	(Likely) benign	1 lab	521c315e86
1:236922820 ACTN2 C>G	1	236922820	236922820	C	G	ACTN2	c.2302-204C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922820C>G	(Likely) benign	1 lab	521e230aa7
9:137722083 COL5A1 C>T	9	137722083	137722083	C	T	COL5A1	c.5136+193C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137722083C>T	(Likely) benign	1 lab	521f49da0b
6:112519231 LAMA4 C>Alt too long to show for this DUP	6	112519231	112575038	C	Alt too long to show for this DUP	LAMA4	c.195+120_503+3577dup	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112519232_112575038dup	VUS	1 lab	52228926ef
1:177906341 SEC16B G>T	1	177906341	177906341	G	T	SEC16B	c.2503+8C>A	NM_033127.4	NP_149118.2:p.?	NC_000001.10:g.177906341G>T	(Likely) benign	1 lab	5223637dd3
1:103352544 COL11A1 T>C	1	103352544	103352544	T	C	COL11A1	c.4713A>G	NM_080629.3	NP_542196.2:p.(Glu1571=)	NC_000001.10:g.103352544T>C	(Likely) benign	1 lab	5223d15fa8
8:77896426 PEX2 AG>A	8	77896426	77896428	AG	A	PEX2	c.-13del	NM_001172086.2	NP_001165557.2:p.?	NC_000008.10:g.77896428del	(Likely) benign	1 lab	522496e035
6:75855860 COL12A1 T>C	6	75855860	75855860	T	C	COL12A1	c.4518A>G	NM_004370.6	NP_004361.3:p.(Ser1506=)	NC_000006.11:g.75855860T>C	(Likely) benign	1 lab	52256f751f
2:179485732 TTN C>T	2	179485732	179485732	C	T	TTN	c.45617-12G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179485732C>T	(Likely) pathogenic	1 lab	522636c91e
2:179638049 TTN G>A	2	179638049	179638049	G	A	TTN	c.7642C>T	NM_001267550.2	NP_001254479.2:p.(Gln2548Ter)	NC_000002.11:g.179638049G>A	(Likely) pathogenic	1 lab	522a98e742
3:114453296 ZBTB20 G>Alt too long to show for this DUP	3	114453296	114579922	G	Alt too long to show for this DUP	ZBTB20	c.-417+39231_-342-40875dup	NM_001348800.3	NP_001335729.1:p.?	NC_000003.11:g.114453299_114579922dup	VUS	1 lab	522f69c305
12:21358791 SLCO1B1 T>C	12	21358791	21358791	T	C	SLCO1B1	c.1332-11T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358791T>C	(Likely) benign	1 lab	523351d80d
10:90974677 LIPA G>C	10	90974677	90974677	G	C	LIPA	c.1108C>G	NM_000235.4	NP_000226.2:p.(Pro370Ala)	NC_000010.10:g.90974677G>C	(Likely) benign	1 lab	5233bae6ce
1:74901829 FPGT-TNNI3K A>C	1	74901829	74901829	A	C	FPGT-TNNI3K	c.2128+13A>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74901829A>C	(Likely) benign	1 lab	5236363c45
1:55509939 PCSK9 T>C	1	55509939	55509939	T	C	PCSK9	c.399+232T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509939T>C	(Likely) benign	1 lab	52377ee39d
10:69902801 MYPN C>T	10	69902801	69902801	C	T	MYPN	c.1007C>T	NM_032578.4	NP_115967.2:p.(Thr336Ile)	NC_000010.10:g.69902801C>T	VUS	1 lab	5239db4d4c
2:179604796 TTN T>C	2	179604796	179604796	T	C	TTN	c.13164A>G	NM_001267550.2	NP_001254479.2:p.(Pro4388=)	NC_000002.11:g.179604796T>C	(Likely) benign	1 lab	523bf9560c
2:241663375 KIF1A G>A	2	241663375	241663375	G	A	KIF1A	c.4318+17C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241663375G>A	(Likely) benign	1 lab	523e0ea060
11:47371031 MYBPC3 G>A	11	47371031	47371031	G	A	MYBPC3	c.654+294C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371031G>A	(Likely) benign	1 lab	52419e310f
9:131339692 SPTAN1 A>G	9	131339692	131339692	A	G	SPTAN1	c.992A>G	NM_001363759.2	NP_001350688.1:p.(Gln331Arg)	NC_000009.11:g.131339692A>G	VUS	1 lab	5244fcf4b0
5:172660520 NKX2-5 AAAT>A	5	172660520	172660525	AAAT	A	NKX2-5	c.335-19_335-17del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523_172660525del	(Likely) benign	1 lab	5247bbd797
17:59770842 BRIP1 G>C	17	59770842	59770842	G	C	BRIP1	c.2524C>G	NM_032043.3	NP_114432.2:p.(Leu842Val)	NC_000017.10:g.59770842G>C	VUS	1 lab	524a76a78b
14:73014081 RGS6 A>AC	14	73014081	73014090	A	AC	RGS6	c.1422+7288dup	NM_001204416.3	NP_001191345.1:p.?	NC_000014.8:g.73014090dup	(Likely) benign	1 lab	524b647794
11:116660450 APOA5 A>G	11	116660450	116660450	A	G	APOA5	c.*394T>C	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660450A>G	(Likely) benign	1 lab	524b907e27
10:73464710 CDH23 T>G	10	73464710	73464710	T	G	CDH23	c.2776T>G	NM_022124.6	NP_071407.4:p.(Ser926Ala)	NC_000010.10:g.73464710T>G	VUS	1 lab	524df05460
16:50348274 ADCY7 C>T	16	50348274	50348274	C	T	ADCY7	c.2928C>T	NM_001114.5	NP_001105.1:p.(Asp976=)	NC_000016.9:g.50348274C>T	(Likely) benign	1 lab	524f0bc763
4:190883081 FRG1 T>G	4	190883081	190883081	T	G	FRG1	c.734T>G	NM_004477.3	NP_004468.1:p.(Leu245Arg)	NC_000004.11:g.190883081T>G	(Likely) benign	1 lab	524f60572f
7:92129172 PEX1 A>T	7	92129172	92129172	A	T	PEX1	c.1960-20T>A	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129172A>T	(Likely) benign	1 lab	52524be768
3:27436595 SLC4A7 T>C	3	27436595	27436595	T	C	SLC4A7	c.2715A>G	NM_001321103.2	NP_001308032.1:p.(Pro905=)	NC_000003.11:g.27436595T>C	(Likely) benign	1 lab	525db71052
5:19793207 CDH18 Ref too long to show for this DEL>T	5	19793207	19929800	Ref too long to show for this DEL	T	CDH18	c.-257+51370_228+45660del	NM_004934.5	NP_004925.1:p.?	NC_000005.9:g.19793209_19929800del	VUS	1 lab	5261369121
16:29626405 MISSING A>Alt too long to show for this DUP	16	29626405	30177807	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29626406_30177807dup	(Likely) pathogenic	1 lab	52628da4f3
2:1687885 PXDN T>A	2	1687885	1687885	T	A	PXDN	c.455A>T	NM_012293.3	NP_036425.1:p.(Asp152Val)	NC_000002.11:g.1687885T>A	(Likely) benign	1 lab	526317871d
2:179468588 TTN C>T	2	179468588	179468588	C	T	TTN	c.54811+15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179468588C>T	(Likely) benign	1 lab	5264b874ec
5:147819366 FBXO38 T>C	5	147819366	147819366	T	C	FBXO38	c.2945+11T>C	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147819366T>C	(Likely) benign	1 lab	5265504610
17:80853911 MISSING C>Alt too long to show for this DUP	17	80853911	81041939	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.80853915_81041939dup	VUS	1 lab	526550a7ad
1:156108383 LMNA C>T	1	156108383	156108383	C	T	LMNA	c.1803C>T	NM_170707.4	NP_733821.1:p.(Ser601=)	NC_000001.10:g.156108383C>T	(Likely) benign	1 lab	526cb916aa
11:88206840 MISSING A>Alt too long to show for this DUP	11	88206840	88337632	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.88206843_88337632dup	VUS	1 lab	526d172597
12:88454677 CEP290 A>G	12	88454677	88454677	A	G	CEP290	c.6452T>C	NM_025114.4	NP_079390.3:p.(Leu2151Ser)	NC_000012.11:g.88454677A>G	(Likely) benign	1 lab	526e4ebcb3
12:1993967 CACNA2D4 C>A	12	1993967	1993967	C	A	CACNA2D4	c.1239G>T	NM_172364.5	NP_758952.4:p.(Pro413=)	NC_000012.11:g.1993967C>A	(Likely) benign	1 lab	527054733b
7:1515860 INTS1 A>T	7	1515860	1515860	A	T	INTS1	c.5378+5T>A	NM_001080453.3	NP_001073922.2:p.?	NC_000007.13:g.1515860A>T	(Likely) benign	1 lab	527120f92f
13:32945197 BRCA2 C>A	13	32945197	32945197	C	A	BRCA2	c.8592C>A	NM_000059.4	NP_000050.3:p.(Ala2864=)	NC_000013.10:g.32945197C>A	(Likely) benign	1 lab	5271d8a2a2
6:42934062 PEX6 G>A	6	42934062	42934062	G	A	PEX6	c.2218C>T	NM_000287.4	NP_000278.3:p.(Leu740Phe)	NC_000006.11:g.42934062G>A	VUS	1 lab	5271ec6791
19:11216617 LDLR G>A	19	11216617	11216617	G	A	LDLR	c.694+341G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216617G>A	(Likely) benign	1 lab	5271f4179a
4:3491440 DOK7 G>C	4	3491440	3491440	G	C	DOK7	c.689G>C	NM_173660.5	NP_775931.3:p.(Arg230Pro)	NC_000004.11:g.3491440G>C	VUS	1 lab	5278765f55
7:128483666 FLNC G>C	7	128483666	128483666	G	C	FLNC	c.2811+35G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483666G>C	(Likely) benign	1 lab	5279e4f050
22:50900007 SBF1 G>A	22	50900007	50900007	G	A	SBF1	c.2784C>T	NM_002972.4	NP_002963.2:p.(Ala928=)	NC_000022.10:g.50900007G>A	(Likely) benign	1 lab	527ce7e764
9:107603174 ABCA1 C>T	9	107603174	107603174	C	T	ABCA1	c.814-374G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107603174C>T	(Likely) benign	1 lab	527d55b381
17:78230730 RNF213 A>Alt too long to show for this DUP	17	78230730	78317442	A	Alt too long to show for this DUP	RNF213				NC_000017.10:g.78230731_78317442dup	VUS	1 lab	52810bc472
17:41244526 BRCA1 TTGAA>T	17	41244526	41244532	TTGAA	T	BRCA1	c.3018_3021del	NM_007294.4	NP_009225.1:p.(His1006GlnfsTer17)	NC_000017.10:g.41244529_41244532del	(Likely) pathogenic	1 lab	52824e8878
7:70850149 MISSING C>Alt too long to show for this DUP	7	70850149	71470607	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.70850150_71470607dup	VUS	1 lab	528264ca11
15:98513108 ARRDC4 A>T	15	98513108	98513108	A	T	ARRDC4	c.883-5A>T	NM_183376.3	NP_899232.2:p.?	NC_000015.9:g.98513108A>T	(Likely) benign	1 lab	5284f8e4da
10:73591648 PSAP G>A	10	73591648	73591648	G	A	PSAP	c.204C>T	NM_001042465.3	NP_001035930.1:p.(Asp68=)	NC_000010.10:g.73591648G>A	(Likely) benign	1 lab	52850eb6de
15:67430724 SMAD3 G>A	15	67430724	67430724	G	A	SMAD3	c.207-26509G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67430724G>A	(Likely) benign	1 lab	528abf09ad
8:59404230 CYP7A1 C>T	8	59404230	59404230	C	T	CYP7A1	c.1319G>A	NM_000780.4	NP_000771.2:p.(Gly440Glu)	NC_000008.10:g.59404230C>T	VUS	1 lab	528e2767d6
19:11223989 LDLR G>A	19	11223989	11223989	G	A	LDLR	c.1222G>A	NM_000527.5	NP_000518.1:p.(Glu408Lys)	NC_000019.9:g.11223989G>A	(Likely) pathogenic	1 lab	5292281712
10:68535238 CTNNA3 G>A	10	68535238	68535238	G	A	CTNNA3	c.1092C>T	NM_013266.4	NP_037398.2:p.(Asp364=)	NC_000010.10:g.68535238G>A	(Likely) benign	1 lab	5293b95e14
9:7792928 MISSING Ref too long to show for this DEL>G	9	7792928	7945146	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.7792929_7945146del	VUS	1 lab	529a337683
4:6279243 WFS1 C>A	4	6279243	6279243	C	A	WFS1	c.61C>A	NM_006005.3	NP_005996.2:p.(Pro21Thr)	NC_000004.11:g.6279243C>A	(Likely) benign	1 lab	529b7a2c8a
20:2467412 ZNF343 T>TA	20	2467412	2467427	T	TA	ZNF343	c.305-4dup	NM_001321801.2	NP_001308730.1:p.?	NC_000020.10:g.2467427dup	(Likely) benign	1 lab	529c37df41
9:101900244 TGFBR1 A>G	9	101900244	101900244	A	G	TGFBR1	c.678A>G	NM_004612.4	NP_004603.1:p.(Gly226=)	NC_000009.11:g.101900244A>G	(Likely) benign	1 lab	529c682b20
16:67977110 LCAT C>T	16	67977110	67977110	C	T	LCAT	c.160G>A	NM_000229.2	NP_000220.1:p.(Gly54Ser)	NC_000016.9:g.67977110C>T	(Likely) pathogenic	1 lab	529f708093
6:32018002 TNXB G>A	6	32018002	32018002	G	A	TNXB	c.9206C>T	NM_019105.8	NP_061978.6:p.(Ala3069Val)	NC_000006.11:g.32018002G>A	VUS	1 lab	529f90ee48
18:45396771 SMAD2 AC>A	18	45396771	45396775	AC	A	SMAD2	c.326+74del	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45396775del	(Likely) benign	1 lab	529fcb303f
16:929572 LMF1 G>A	16	929572	929572	G	A	LMF1	c.496C>T	NM_001352018.2	NP_001338947.1:p.(Gln166Ter)	NC_000016.9:g.929572G>A	VUS	1 lab	52a0c51f2a
2:105990166 FHL2 A>T	2	105990166	105990166	A	T	FHL2	c.181T>A	NM_001450.4	NP_001441.4:p.(Trp61Arg)	NC_000002.11:g.105990166A>T	VUS	1 lab	52a10b1d29
2:234240268 SAG C>A	2	234240268	234240268	C	A	SAG	c.734-18C>A	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234240268C>A	(Likely) benign	1 lab	52a10bc532
9:107593430 ABCA1 T>TA	9	107593430	107593451	T	TA	ABCA1	c.1716-49dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593451dup	(Likely) benign	1 lab	52a2d3b9cd
17:48276632 COL1A1 T>G	17	48276632	48276632	T	G	COL1A1	c.426A>C	NM_000088.4	NP_000079.2:p.(Gly142=)	NC_000017.10:g.48276632T>G	(Likely) benign	1 lab	52bb80c91c
14:23855233 MYH6 C>T	14	23855233	23855233	C	T	MYH6	c.5067G>A	NM_002471.4	NP_002462.2:p.(Glu1689=)	NC_000014.8:g.23855233C>T	(Likely) benign	1 lab	52ac9bcd42
16:67976793 LCAT A>G	16	67976793	67976793	A	G	LCAT	c.398T>C	NM_000229.2	NP_000220.1:p.(Val133Ala)	NC_000016.9:g.67976793A>G	(Likely) pathogenic	1 lab	52ae0af5c2
9:107586739 ABCA1 C>A	9	107586739	107586739	C	A	ABCA1	c.2656+7G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107586739C>A	(Likely) benign	1 lab	52c300e029
15:34080588 RYR3 C>T	15	34080588	34080588	C	T	RYR3	c.9759C>T	NM_001036.6	NP_001027.3:p.(Asp3253=)	NC_000015.9:g.34080588C>T	(Likely) benign	1 lab	52b1eea06e
20:45353662 SLC2A10 C>G	20	45353662	45353662	C	G	SLC2A10	c.5-18C>G	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45353662C>G	(Likely) benign	1 lab	52b266a74f
18:72344966 ZNF407 G>T	18	72344966	72344966	G	T	ZNF407	c.1991G>T	NM_017757.3	NP_060227.2:p.(Ser664Ile)	NC_000018.9:g.72344966G>T	(Likely) benign	1 lab	52b3d13232
8:31000155 WRN T>C	8	31000155	31000155	T	C	WRN	c.3247T>C	NM_000553.6	NP_000544.2:p.(Ser1083Pro)	NC_000008.10:g.31000155T>C	VUS	1 lab	52b4cc6d63
X:118467883 MISSING G>Alt too long to show for this DUP	X	118467883	118474577	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.118467884_118474577dup	VUS	1 lab	52b663cba4
11:58877137 FAM111B C>T	11	58877137	58877137	C	T	FAM111B	c.39C>T	NM_198947.4	NP_945185.1:p.(Ser13=)	NC_000011.9:g.58877137C>T	(Likely) benign	1 lab	52b6729882
16:75661803 KARS1 G>C	16	75661803	75661803	G	C	KARS1	c.1868C>G	NM_001130089.2	NP_001123561.1:p.(Thr623Ser)	NC_000016.9:g.75661803G>C	(Likely) benign	1 lab	52c0f9fb8d
5:10265462 CCT5 G>A	5	10265462	10265462	G	A	CCT5	c.*567G>A	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265462G>A	(Likely) benign	1 lab	52c4c60e06
6:7583166 DSP GAGA>G	6	7583166	7583173	GAGA	G	DSP	c.5676_5678del	NM_004415.4	NP_004406.2:p.(Lys1892del)	NC_000006.11:g.7583171_7583173del	VUS	1 lab	52c5ae334e
15:48905482 FBN1 C>T	15	48905482	48905482	C	T	FBN1	c.165-193G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48905482C>T	(Likely) benign	1 lab	52c60736b3
X:118346917 MISSING Ref too long to show for this DEL>A	X	118346917	118604854	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.118346923_118604854del	VUS	1 lab	52c79eae20
2:179634464 TTN C>T	2	179634464	179634464	C	T	TTN	c.8844G>A	NM_133378.4	NP_596869.4:p.(Ser2948=)	NC_000002.11:g.179634464C>T	(Likely) benign	1 lab	52c85d04a5
5:82841456 VCAN C>T	5	82841456	82841456	C	T	VCAN	c.9366C>T	NM_004385.5	NP_004376.2:p.(Asp3122=)	NC_000005.9:g.82841456C>T	(Likely) benign	1 lab	52ca03979b
5:178634505 ADAMTS2 C>T	5	178634505	178634505	C	T	ADAMTS2	c.891+9G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634505C>T	(Likely) benign	1 lab	52cc0eb002
6:110113939 FIG4 CTT>C	6	110113939	110113958	CTT	C	FIG4	c.2459+90_2459+91del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113957_110113958del	(Likely) benign	1 lab	52cd5a293f
11:8486375 STK33 G>GA	11	8486375	8486388	G	GA	STK33	c.340-7dup	NM_030906.4	NP_112168.1:p.?	NC_000011.9:g.8486388dup	(Likely) benign	1 lab	52ce493394
4:186584911 MISSING Ref too long to show for this DEL>T	4	186584911	190804546	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.186584912_190804546del	(Likely) pathogenic	1 lab	52dad7233f
1:236923414 ACTN2 C>T	1	236923414	236923414	C	T	ACTN2	c.2367+325C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236923414C>T	(Likely) benign	1 lab	52db8b7344
13:32915253 BRCA2 T>A	13	32915253	32915253	T	A	BRCA2	c.6761T>A	NM_000059.4	NP_000050.3:p.(Phe2254Tyr)	NC_000013.10:g.32915253T>A	(Likely) benign	1 lab	52e00c1eff
11:128781441 KCNJ5 C>T	11	128781441	128781441	C	T	KCNJ5	c.273C>T	NM_000890.5	NP_000881.3:p.(Leu91=)	NC_000011.9:g.128781441C>T	(Likely) benign	1 lab	52e191871c
11:76883779 MYO7A C>T	11	76883779	76883779	C	T	MYO7A	c.1798-15C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76883779C>T	(Likely) benign	1 lab	52e1bb872a
10:160759 MISSING G>Alt too long to show for this DUP	10	160759	228841	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.160762_228841dup	VUS	1 lab	52e888b135
2:179463270 TTN A>G	2	179463270	179463270	A	G	TTN	c.57074T>C	NM_001267550.2	NP_001254479.2:p.(Val19025Ala)	NC_000002.11:g.179463270A>G	VUS	1 lab	52eb9506ad
22:40058145 CACNA1I C>T	22	40058145	40058145	C	T	CACNA1I	c.3077C>T	NM_021096.4	NP_066919.2:p.(Pro1026Leu)	NC_000022.10:g.40058145C>T	(Likely) benign	1 lab	52f0527f95
8:19813776 LPL C>A	8	19813776	19813776	C	A	LPL	c.1018+182C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813776C>A	(Likely) benign	1 lab	52f14f9ddf
2:179610666 TTN T>C	2	179610666	179610666	T	C	TTN	c.16461A>G	NM_133379.5	NP_596870.2:p.(Leu5487=)	NC_000002.11:g.179610666T>C	(Likely) benign	1 lab	52f8b21882
2:179471878 TTN A>T	2	179471878	179471878	A	T	TTN	c.53451T>A	NM_001267550.2	NP_001254479.2:p.(Thr17817=)	NC_000002.11:g.179471878A>T	(Likely) benign	1 lab	52f8d77b70
7:107340531 SLC26A4 G>A	7	107340531	107340531	G	A	SLC26A4	c.1618G>A	NM_000441.2	NP_000432.1:p.(Glu540Lys)	NC_000007.13:g.107340531G>A	(Likely) benign	1 lab	52f95bc837
1:55524320 PCSK9 G>A	1	55524320	55524320	G	A	PCSK9	c.1503G>A	NM_174936.4	NP_777596.2:p.(Glu501=)	NC_000001.10:g.55524320G>A	VUS	1 lab	52fd4fce1b
21:45271213 MISSING A>Alt too long to show for this DUP	21	45271213	45502960	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.45271216_45502960dup	VUS	1 lab	52fedcdd31
8:19813531 LPL A>C	8	19813531	19813531	A	C	LPL	c.955A>C	NM_000237.3	NP_000228.1:p.(Lys319Gln)	NC_000008.10:g.19813531A>C	VUS	1 lab	52ff062f3d
21:45383223 MISSING Ref too long to show for this DEL>G	21	45383223	48097372	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.45383224_48097372del	(Likely) pathogenic	1 lab	5301a4cc5d
X:76807979 MISSING A>Alt too long to show for this DUP	X	76807979	77156598	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.76807981_77156598dup	VUS	1 lab	5301aca1de
11:22301257 ANO5 C>G	11	22301257	22301257	C	G	ANO5	c.2688C>G	NM_213599.3	NP_998764.1:p.(Ala896=)	NC_000011.9:g.22301257C>G	(Likely) benign	1 lab	5302b28a31
17:64181284 MISSING Ref too long to show for this DEL>G	17	64181284	64203193	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.64181285_64203193del	VUS	1 lab	5302ba3fb3
18:34232564 FHOD3 A>G	18	34232564	34232564	A	G	FHOD3	c.1318A>G	NM_001281740.3	NP_001268669.1:p.(Thr440Ala)	NC_000018.9:g.34232564A>G	VUS	1 lab	530466eb47
X:85218899 CHM GT>G	X	85218899	85218902	GT	G	CHM	c.472del	NM_000390.4	NP_000381.1:p.(Thr158LeufsTer10)	NC_000023.10:g.85218902del	(Likely) pathogenic	1 lab	53048356f3
X:119694116 CUL4B TGAG>T	X	119694116	119694136	TGAG	T	CUL4B	c.429_431del	NM_003588.4	NP_003579.3:p.(Ser146del)	NC_000023.10:g.119694134_119694136del	(Likely) benign	1 lab	530576c0f6
11:47374208 MYBPC3 C>T	11	47374208	47374208	C	T	MYBPC3	c.-10G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47374208C>T	(Likely) benign	1 lab	5307bc1b10
11:118023368 SCN4B T>C	11	118023368	118023368	T	C	SCN4B	c.21A>G	NM_174934.4	NP_777594.1:p.(Gly7=)	NC_000011.9:g.118023368T>C	(Likely) benign	1 lab	5308e9e8a3
4:100532360 MTTP G>A	4	100532360	100532360	G	A	MTTP	c.1830G>A	NM_000253.4	NP_000244.2:p.(Arg610=)	NC_000004.11:g.100532360G>A	(Likely) benign	1 lab	530ccd9528
2:98994130 CNGA3 C>T	2	98994130	98994130	C	T	CNGA3	c.102-20C>T	NM_001298.3	NP_001289.1:p.?	NC_000002.11:g.98994130C>T	(Likely) benign	1 lab	530f80ad2e
7:128481201 FLNC G>A	7	128481201	128481201	G	A	FLNC	c.1814-23G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481201G>A	(Likely) benign	1 lab	530f882514
2:179467033 TTN C>A	2	179467033	179467033	C	A	TTN	c.55096G>T	NM_001267550.2	NP_001254479.2:p.(Glu18366Ter)	NC_000002.11:g.179467033C>A	(Likely) pathogenic	1 lab	5310f2e19a
1:3321290 PRDM16 G>A	1	3321290	3321290	G	A	PRDM16	c.885-13G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3321290G>A	(Likely) benign	1 lab	5314a20eea
7:618965 PRKAR1B G>A	7	618965	618965	G	A	PRKAR1B	c.819C>T	NM_001164761.2	NP_001158233.1:p.(Pro273=)	NC_000007.13:g.618965G>A	(Likely) benign	1 lab	53159fabe7
2:179636112 TTN A>G	2	179636112	179636112	A	G	TTN	c.7942T>C	NM_001267550.2	NP_001254479.2:p.(Ser2648Pro)	NC_000002.11:g.179636112A>G	VUS	1 lab	5317d7c248
10:90984838 LIPA G>T	10	90984838	90984838	G	T	LIPA	c.675+11C>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90984838G>T	(Likely) benign	1 lab	531b5ad5d3
10:90988530 LIPA A>C	10	90988530	90988530	A	C	LIPA	c.230-375T>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90988530A>C	(Likely) benign	1 lab	531d58dd40
17:79503216 FSCN2 T>G	17	79503216	79503216	T	G	FSCN2	c.1028T>G	NM_001077182.3	NP_001070650.1:p.(Val343Gly)	NC_000017.10:g.79503216T>G	(Likely) benign	1 lab	531d839d81
2:131221499 POTEI G>A	2	131221499	131221499	G	A	POTEI	c.2118C>T	NM_001277406.2	NP_001264335.1:p.(Ala706=)	NC_000002.11:g.131221499G>A	(Likely) benign	1 lab	5320b3a22f
19:15291829 NOTCH3 G>A	19	15291829	15291829	G	A	NOTCH3	c.2937C>T	NM_000435.3	NP_000426.2:p.(Ala979=)	NC_000019.9:g.15291829G>A	(Likely) benign	1 lab	53212eb941
19:11224135 LDLR G>A	19	11224135	11224135	G	A	LDLR	c.1358+10G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224135G>A	(Likely) benign	1 lab	532375df21
11:47370954 MYBPC3 T>A	11	47370954	47370954	T	A	MYBPC3	c.654+371A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370954T>A	(Likely) benign	1 lab	5323e468a4
2:220499287 SLC4A3 C>T	2	220499287	220499287	C	T	SLC4A3	c.1788C>T	NM_001326559.2	NP_001313488.2:p.(His596=)	NC_000002.11:g.220499287C>T	(Likely) benign	1 lab	5325e6e85a
19:13247130 NACC1 C>T	19	13247130	13247130	C	T	NACC1	c.1031C>T	NM_052876.4	NP_443108.1:p.(Pro344Leu)	NC_000019.9:g.13247130C>T	VUS	1 lab	532614b930
4:187115676 CYP4V2 G>T	4	187115676	187115676	G	T	CYP4V2	c.237G>T	NM_207352.4	NP_997235.3:p.(Glu79Asp)	NC_000004.11:g.187115676G>T	VUS	1 lab	532b6b2017
20:61452881 COL9A3 C>G	20	61452881	61452881	C	G	COL9A3	c.368C>G	NM_001853.4	NP_001844.3:p.(Pro123Arg)	NC_000020.10:g.61452881C>G	VUS	1 lab	532e53dc0d
5:86669966 CCNH T>A	5	86669966	86669966	T	A	CCNH	c.933+20895A>T	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86669966T>A	(Likely) benign	1 lab	532ec8cec0
6:87969261 ZNF292 C>T	6	87969261	87969261	C	T	ZNF292	c.5494C>T	NM_001351444.2	NP_001338373.1:p.(His1832Tyr)	NC_000006.11:g.87969261C>T	VUS	1 lab	532f554dc8
11:9171678 DENND5A CT>C	11	9171678	9171685	CT	C	DENND5A	c.2684del	NM_015213.4	NP_056028.2:p.(Lys895SerfsTer7)	NC_000011.9:g.9171685del	(Likely) pathogenic	1 lab	5335008d58
X:38268115 OTC T>C	X	38268115	38268115	T	C	OTC	c.718-14T>C	NM_000531.6	NP_000522.3:p.?	NC_000023.10:g.38268115T>C	(Likely) benign	1 lab	5336a7af8d
16:57011987 CETP C>G	16	57011987	57011987	C	G	CETP	c.982-16C>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57011987C>G	(Likely) benign	1 lab	533713fe70
2:148676612 MISSING T>Alt too long to show for this DUP	2	148676612	148718600	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.148676615_148718600dup	VUS	1 lab	53394851b4
2:209025634 CRYGA C>A	2	209025634	209025634	C	A	CRYGA	c.419G>T	NM_014617.4	NP_055432.2:p.(Arg140Leu)	NC_000002.11:g.209025634C>A	VUS	1 lab	533bee11fb
19:45411819 APOE T>G	19	45411819	45411819	T	G	APOE	c.344T>G	NM_001302688.2	NP_001289617.1:p.(Leu115Trp)	NC_000019.9:g.45411819T>G	VUS	1 lab	533c525c96
2:1507708 TPO T>C	2	1507708	1507708	T	C	TPO	c.2387-12T>C	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1507708T>C	(Likely) benign	1 lab	533fa6e121
11:65309413 LTBP3 CA>C	11	65309413	65309417	CA	C	LTBP3	c.2597-215del	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65309417del	(Likely) benign	1 lab	53422791dc
2:179516165 TTN G>A	2	179516165	179516165	G	A	TTN	c.39547+15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516165G>A	(Likely) benign	1 lab	5343a0ac8e
15:72105918 NR2E3 T>C	15	72105918	72105918	T	C	NR2E3	c.937T>C	NM_016346.4	NP_057430.1:p.(Leu313=)	NC_000015.9:g.72105918T>C	(Likely) benign	1 lab	534582c533
2:179474314 TTN C>A	2	179474314	179474314	C	A	TTN	c.51740-17G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179474314C>A	(Likely) benign	1 lab	53480de6f1
16:28503802 MISSING Ref too long to show for this DEL>T	16	28503802	29325694	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.28503803_29325694del	(Likely) pathogenic	1 lab	534bf02591
3:155571507 SLC33A1 T>A	3	155571507	155571507	T	A	SLC33A1	c.280A>T	NM_004733.4	NP_004724.1:p.(Ser94Cys)	NC_000003.11:g.155571507T>A	VUS	1 lab	534df9885c
15:63353391 TPM1 T>C	15	63353391	63353391	T	C	TPM1	c.563+253T>C	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63353391T>C	(Likely) benign	1 lab	534e964622
16:19073497 MISSING Ref too long to show for this DEL>A	16	19073497	19322578	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.19073499_19322578del	VUS	1 lab	5351f2e58d
5:33984384 SLC45A2 C>T	5	33984384	33984384	C	T	SLC45A2	c.305G>A	NM_016180.5	NP_057264.4:p.(Arg102Gln)	NC_000005.9:g.33984384C>T	(Likely) pathogenic	1 lab	53545828d4
2:211540487 CPS1 C>T	2	211540487	211540487	C	T	CPS1	c.4197C>T	NM_001875.5	NP_001866.2:p.(Asn1399=)	NC_000002.11:g.211540487C>T	(Likely) benign	1 lab	535545c082
1:17312592 ATP13A2 G>A	1	17312592	17312592	G	A	ATP13A2	c.3365C>T	NM_001141974.3	NP_001135446.1:p.(Pro1122Leu)	NC_000001.10:g.17312592G>A	(Likely) benign	1 lab	535a5f3dba
2:179417507 TTN T>A	2	179417507	179417507	T	A	TTN	c.90120A>T	NM_001267550.2	NP_001254479.2:p.(Lys30040Asn)	NC_000002.11:g.179417507T>A	VUS	1 lab	535c1aa224
5:90106415 ADGRV1 T>G	5	90106415	90106415	T	G	ADGRV1	c.15338T>G	NM_032119.4	NP_115495.3:p.(Leu5113Arg)	NC_000005.9:g.90106415T>G	VUS	1 lab	5361f01df8
16:77468537 ADAMTS18 G>A	16	77468537	77468537	G	A	ADAMTS18	c.56C>T	NM_199355.4	NP_955387.1:p.(Pro19Leu)	NC_000016.9:g.77468537G>A	VUS	1 lab	53687d6489
1:161276543 MPZ T>G	1	161276543	161276543	T	G	MPZ	c.403A>C	NM_000530.8	NP_000521.2:p.(Ile135Leu)	NC_000001.10:g.161276543T>G	(Likely) pathogenic	1 lab	536941bba3
16:89858352 FANCA G>A	16	89858352	89858352	G	A	FANCA	c.1208C>T	NM_000135.4	NP_000126.2:p.(Ala403Val)	NC_000016.9:g.89858352G>A	VUS	1 lab	536ae1220b
2:189907551 COL5A2 G>T	2	189907551	189907551	G	T	COL5A2	c.3472-52C>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189907551G>T	(Likely) benign	1 lab	536bb8afe2
19:50755981 MYH14 A>T	19	50755981	50755981	A	T	MYH14	c.1916A>T	NM_001145809.2	NP_001139281.1:p.(Asp639Val)	NC_000019.9:g.50755981A>T	VUS	1 lab	536d65b1e8
22:50885738 SBF1 G>A	22	50885738	50885738	G	A	SBF1	c.5583+13C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50885738G>A	(Likely) benign	1 lab	536ea8d45d
2:179513965 TTN T>C	2	179513965	179513965	T	C	TTN	c.40057+10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179513965T>C	(Likely) benign	1 lab	536fa5103c
22:29092948 CHEK2 G>T	22	29092948	29092948	G	T	CHEK2	c.1036C>A	NM_007194.4	NP_009125.1:p.(Arg346Ser)	NC_000022.10:g.29092948G>T	VUS	1 lab	5371995515
6:75875510 COL12A1 A>G	6	75875510	75875510	A	G	COL12A1	c.2711-15T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75875510A>G	(Likely) benign	1 lab	5377e0be20
6:16146902 MYLIP G>A	6	16146902	16146902	G	A	MYLIP	c.1258G>A	NM_013262.4	NP_037394.2:p.(Val420Ile)	NC_000006.11:g.16146902G>A	(Likely) benign	1 lab	537d3b4f93
1:169497741 MISSING C>Alt too long to show for this DUP	1	169497741	169608894	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.169497743_169608894dup	VUS	1 lab	537fccbaf3
12:23689513 SOX5 G>C	12	23689513	23689513	G	C	SOX5	c.1823C>G	NM_152989.5	NP_694534.1:p.(Pro608Arg)	NC_000012.11:g.23689513G>C	VUS	1 lab	53817515dd
10:97258345 SORBS1 Ref too long to show for this DEL>C	10	97258345	97303607	Ref too long to show for this DEL	C	SORBS1	c.-132+17472_-131-7469del	NM_001034954.3	NP_001030126.2:p.?	NC_000010.10:g.97258348_97303607del	VUS	1 lab	53827858b1
18:47091877 LIPG G>A	18	47091877	47091877	G	A	LIPG	c.279+9G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47091877G>A	(Likely) benign	1 lab	5383edfd82
8:56866515 LYN C>T	8	56866515	56866515	C	T	LYN	c.762C>T	NM_002350.4	NP_002341.1:p.(Gly254=)	NC_000008.10:g.56866515C>T	(Likely) benign	1 lab	5385826ca1
9:130255166 LRSAM1 G>A	9	130255166	130255166	G	A	LRSAM1	c.1589G>A	NM_138361.5	NP_612370.3:p.(Arg530Gln)	NC_000009.11:g.130255166G>A	VUS	1 lab	53864c4dda
11:47358060 MYBPC3 A>T	11	47358060	47358060	A	T	MYBPC3	c.2603-498T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358060A>T	(Likely) benign	1 lab	5389435b53
19:50781452 MYH14 G>A	19	50781452	50781452	G	A	MYH14	c.3938G>A	NM_001145809.2	NP_001139281.1:p.(Arg1313His)	NC_000019.9:g.50781452G>A	VUS	1 lab	538a78fc70
8:10480398 RP1L1 G>A	8	10480398	10480398	G	A	RP1L1	c.314C>T	NM_178857.6	NP_849188.4:p.(Ser105Phe)	NC_000008.10:g.10480398G>A	VUS	1 lab	538af6f2aa
17:15142901 PMP22 A>T	17	15142901	15142901	A	T	PMP22	c.206T>A	NM_000304.4	NP_000295.1:p.(Met69Lys)	NC_000017.10:g.15142901A>T	(Likely) pathogenic	1 lab	538d314337
9:107651440 ABCA1 T>C	9	107651440	107651440	T	C	ABCA1	c.103A>G	NM_005502.4	NP_005493.2:p.(Ile35Val)	NC_000009.11:g.107651440T>C	VUS	1 lab	53922fb5c6
1:153985728 NUP210L Ref too long to show for this DEL>T	1	153985728	154030798	Ref too long to show for this DEL	T	NUP210L	c.2980-103_4654-883del	NM_207308.3	NP_997191.2:p.?	NC_000001.10:g.153985732_154030798del	VUS	1 lab	539247266b
22:32302245 DEPDC5 G>A	22	32302245	32302245	G	A	DEPDC5	c.4574G>A	NM_001242896.3	NP_001229825.1:p.(Arg1525Gln)	NC_000022.10:g.32302245G>A	VUS	1 lab	5393293640
5:90103564 ADGRV1 A>G	5	90103564	90103564	A	G	ADGRV1	c.14972+10A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90103564A>G	(Likely) benign	1 lab	5397ee8ec5
19:50910248 POLD1 C>T	19	50910248	50910248	C	T	POLD1	c.1503C>T	NM_001256849.1	NP_001243778.1:p.(Asn501=)	NC_000019.9:g.50910248C>T	(Likely) benign	1 lab	53989458a6
7:128480612 FLNC G>A	7	128480612	128480612	G	A	FLNC	c.1560G>A	NM_001458.5	NP_001449.3:p.(Glu520=)	NC_000007.13:g.128480612G>A	(Likely) benign	1 lab	53991fb468
8:19811730 LPL G>T	8	19811730	19811730	G	T	LPL	c.641G>T	NM_000237.3	NP_000228.1:p.(Arg214Ile)	NC_000008.10:g.19811730G>T	(Likely) pathogenic	1 lab	539f00f2d7
7:81620566 CACNA2D1 G>T	7	81620566	81620566	G	T	CACNA2D1	c.1735-4C>A	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81620566G>T	(Likely) benign	1 lab	539f53b83c
2:179410964 TTN G>A	2	179410964	179410964	G	A	TTN	c.95094C>T	NM_001267550.2	NP_001254479.2:p.(Ala31698=)	NC_000002.11:g.179410964G>A	(Likely) benign	1 lab	539f88e4af
12:21377741 SLCO1B1 G>T	12	21377741	21377741	G	T	SLCO1B1	c.1833G>T	NM_006446.5	NP_006437.3:p.(Gly611=)	NC_000012.11:g.21377741G>T	(Likely) benign	1 lab	53a11ca2f5
1:161276611 MPZ A>G	1	161276611	161276611	A	G	MPZ	c.335T>C	NM_000530.8	NP_000521.2:p.(Ile112Thr)	NC_000001.10:g.161276611A>G	(Likely) pathogenic	1 lab	53a1304bf6
2:189849988 COL3A1 T>C	2	189849988	189849988	T	C	COL3A1	c.333+15T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189849988T>C	(Likely) benign	1 lab	53a2b69ef0
4:15597695 CC2D2A T>C	4	15597695	15597695	T	C	CC2D2A	c.4315-13T>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15597695T>C	(Likely) benign	1 lab	53a3a0e8dd
2:179429228 TTN C>T	2	179429228	179429228	C	T	TTN	c.81631G>A	NM_001267550.2	NP_001254479.2:p.(Asp27211Asn)	NC_000002.11:g.179429228C>T	VUS	1 lab	53a963e693
19:50321598 MED25 T>G	19	50321598	50321598	T	G	MED25	c.-1T>G	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50321598T>G	VUS	1 lab	53a9dedc03
19:11215982 LDLR T>C	19	11215982	11215982	T	C	LDLR	c.400T>C	NM_000527.5	NP_000518.1:p.(Cys134Arg)	NC_000019.9:g.11215982T>C	(Likely) pathogenic	1 lab	53ada1f272
15:85401062 ALPK3 G>C	15	85401062	85401062	G	C	ALPK3	c.3093G>C	NM_020778.5	NP_065829.4:p.(Leu1031=)	NC_000015.9:g.85401062G>C	(Likely) benign	1 lab	53c36df552
2:179613708 TTN T>C	2	179613708	179613708	T	C	TTN	c.13419A>G	NM_133379.5	NP_596870.2:p.(Leu4473=)	NC_000002.11:g.179613708T>C	(Likely) benign	1 lab	53b01fdad1
10:90983507 LIPA T>G	10	90983507	90983507	T	G	LIPA	c.756A>C	NM_000235.4	NP_000226.2:p.(Ile252=)	NC_000010.10:g.90983507T>G	(Likely) benign	1 lab	53b44c172f
2:110922232 NPHP1 C>T	2	110922232	110922232	C	T	NPHP1	c.804G>A	NM_207181.4	NP_997064.2:p.(Ser268=)	NC_000002.11:g.110922232C>T	(Likely) benign	1 lab	53b4f691c0
9:137658112 COL5A1 A>G	9	137658112	137658112	A	G	COL5A1	c.2089-188A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658112A>G	(Likely) benign	1 lab	53bad95ad2
7:150649569 KCNH2 C>G	7	150649569	150649569	C	G	KCNH2	c.1501G>C	NM_000238.4	NP_000229.1:p.(Asp501His)	NC_000007.13:g.150649569C>G	(Likely) pathogenic	1 lab	53bc96d16f
11:125875687 CDON C>A	11	125875687	125875687	C	A	CDON	c.1818G>T	NM_001243597.2	NP_001230526.1:p.(Leu606=)	NC_000011.9:g.125875687C>A	(Likely) benign	1 lab	53bec12a80
6:56505306 DST T>C	6	56505306	56505306	T	C	DST	c.2026A>G	NM_001144769.5	NP_001138241.1:p.(Met676Val)	NC_000006.11:g.56505306T>C	VUS	1 lab	53beebb2a6
10:88458996 LDB3 TTC>T	10	88458996	88459025	TTC	T	LDB3	c.1100+6696_1100+6697del	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88459024_88459025del	(Likely) benign	1 lab	53c677ee35
1:161277094 MPZ G>A	1	161277094	161277094	G	A	MPZ	c.188C>T	NM_000530.8	NP_000521.2:p.(Ser63Phe)	NC_000001.10:g.161277094G>A	(Likely) pathogenic	1 lab	53c6f33fc2
15:48718062 FBN1 C>G	15	48718062	48718062	C	G	FBN1	c.7205-1G>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48718062C>G	(Likely) pathogenic	1 lab	53cb23a083
19:33167274 RGS9BP C>T	19	33167274	33167274	C	T	RGS9BP	c.105C>T	NM_207391.3	NP_997274.2:p.(Asn35=)	NC_000019.9:g.33167274C>T	(Likely) benign	1 lab	53ccb21687
2:179659159 TTN C>T	2	179659159	179659159	C	T	TTN	c.1365G>A	NM_001267550.2	NP_001254479.2:p.(Thr455=)	NC_000002.11:g.179659159C>T	(Likely) benign	1 lab	53ce03620a
15:23891354 MAGEL2 C>T	15	23891354	23891354	C	T	MAGEL2	c.1536G>A	NM_019066.5	NP_061939.3:p.(Pro512=)	NC_000015.9:g.23891354C>T	(Likely) benign	1 lab	53ce2e406e
22:51019955 CHKB G>A	22	51019955	51019955	G	A	CHKB	c.475C>T	NM_005198.5	NP_005189.2:p.(Arg159Ter)	NC_000022.10:g.51019955G>A	(Likely) pathogenic	1 lab	53ce7daa22
1:23111415 EPHB2 G>A	1	23111415	23111415	G	A	EPHB2	c.657G>A	NM_004442.7	NP_004433.2:p.(Leu219=)	NC_000001.10:g.23111415G>A	(Likely) benign	1 lab	53cf4b8a0f
15:28234829 OCA2 A>G	15	28234829	28234829	A	G	OCA2	c.1117-17T>C	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28234829A>G	VUS	1 lab	53d01331ba
6:66115263 EYS T>TA	6	66115263	66115270	T	TA	EYS	c.863-4dup	NM_001292009.1	NP_001278938.1:p.?	NC_000006.11:g.66115270dup	(Likely) benign	1 lab	53d5ae007b
19:49692237 TRPM4 G>C	19	49692237	49692237	G	C	TRPM4	c.1908G>C	NM_017636.4	NP_060106.2:p.(Val636=)	NC_000019.9:g.49692237G>C	(Likely) benign	1 lab	53d5b45ea5
7:92116759 PEX1 AAG>A	7	92116759	92116762	AAG	A	PEX1	c.*10_*11del	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92116761_92116762del	(Likely) benign	1 lab	53d90d96f2
12:30805674 IPO8 T>A	12	30805674	30805674	T	A	IPO8	c.2074+227A>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30805674T>A	(Likely) benign	1 lab	53de70e1c1
5:157158615 THG1L G>A	5	157158615	157158615	G	A	THG1L	c.167G>A	NM_017872.5	NP_060342.2:p.(Arg56Gln)	NC_000005.9:g.157158615G>A	VUS	1 lab	53ded216c5
9:712143 KANK1 G>A	9	712143	712143	G	A	KANK1	c.1377G>A	NM_001256877.3	NP_001243806.1:p.(Gln459=)	NC_000009.11:g.712143G>A	(Likely) benign	1 lab	53e1b194d9
16:29567293 MISSING Ref too long to show for this DEL>T	16	29567293	30177241	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29567296_30177241del	(Likely) pathogenic	1 lab	53e36e6c11
2:241709025 KIF1A C>T	2	241709025	241709025	C	T	KIF1A	c.1421+19G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241709025C>T	(Likely) benign	1 lab	53e6763dab
11:65313927 LTBP3 C>A	11	65313927	65313927	C	A	LTBP3	c.2339G>T	NM_001130144.3	NP_001123616.1:p.(Gly780Val)	NC_000011.9:g.65313927C>A	VUS	1 lab	53ea73a58a
14:21873908 CHD8 TC>T	14	21873908	21873910	TC	T	CHD8	c.3022del	NM_001170629.2	NP_001164100.1:p.(Asp1008ThrfsTer21)	NC_000014.8:g.21873910del	(Likely) pathogenic	1 lab	53ecbf5992
12:110240859 TRPV4 C>A	12	110240859	110240859	C	A	TRPV4	c.649G>T	NM_021625.5	NP_067638.3:p.(Ala217Ser)	NC_000012.11:g.110240859C>A	(Likely) benign	1 lab	53ed76c56e
11:116707086 APOA1 A>T	11	116707086	116707086	A	T	APOA1	c.242T>A	NM_001318017.2	NP_001304946.1:p.(Phe81Tyr)	NC_000011.9:g.116707086A>T	(Likely) pathogenic	1 lab	53ed887385
18:47093980 LIPG G>T	18	47093980	47093980	G	T	LIPG	c.448G>T	NM_006033.4	NP_006024.1:p.(Asp150Tyr)	NC_000018.9:g.47093980G>T	VUS	1 lab	53ee907142
16:919929 LMF1 G>A	16	919929	919929	G	A	LMF1	c.971C>T	NM_001352018.2	NP_001338947.1:p.(Pro324Leu)	NC_000016.9:g.919929G>A	VUS	1 lab	53eedd3772
15:89826497 FANCI G>A	15	89826497	89826497	G	A	FANCI	c.1698+16G>A	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89826497G>A	(Likely) benign	1 lab	53f5bee6dc
10:90987007 LIPA T>C	10	90987007	90987007	T	C	LIPA	c.429-246A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90987007T>C	(Likely) benign	1 lab	53f73a2a5e
20:745898 SLC52A3 T>C	20	745898	745898	T	C	SLC52A3	c.521A>G	NM_001370086.1	NP_001357015.1:p.(Asp174Gly)	NC_000020.10:g.745898T>C	(Likely) benign	1 lab	53fa878d6f
2:179459100 TTN G>C	2	179459100	179459100	G	C	TTN	c.58121C>G	NM_001267550.2	NP_001254479.2:p.(Thr19374Ser)	NC_000002.11:g.179459100G>C	VUS	1 lab	53fced470d
16:23635371 PALB2 G>A	16	23635371	23635371	G	A	PALB2	c.2793C>T	NM_024675.4	NP_078951.2:p.(Leu931=)	NC_000016.9:g.23635371G>A	(Likely) benign	1 lab	53fd07917b
1:55524816 PCSK9 G>A	1	55524816	55524816	G	A	PCSK9	c.1504-343G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524816G>A	(Likely) benign	1 lab	5400519de6
15:30921716 MISSING Ref too long to show for this DEL>A	15	30921716	32515122	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.30921718_32515122del	(Likely) pathogenic	1 lab	54075c6b74
16:81397414 GAN G>A	16	81397414	81397414	G	A	GAN	c.1102G>A	NM_022041.4	NP_071324.1:p.(Gly368Arg)	NC_000016.9:g.81397414G>A	(Likely) pathogenic	1 lab	5407e0d85e
6:56480344 DST C>T	6	56480344	56480344	C	T	DST	c.7921G>A	NM_001723.7	NP_001714.1:p.(Gly2641Arg)	NC_000006.11:g.56480344C>T	VUS	1 lab	5407e581ed
3:37035257 MLH1 A>G	3	37035257	37035257	A	G	MLH1	c.116+103A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37035257A>G	VUS	1 lab	540ca5f660
10:47086972 NPY4R G>A	10	47086972	47086972	G	A	NPY4R	c.189G>A	NM_005972.6	NP_005963.4:p.(Met63Ile)	NC_000010.10:g.47086972G>A	(Likely) benign	1 lab	540cda9ccb
10:73490213 CDH23 C>T	10	73490213	73490213	C	T	CDH23	c.3580-13C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73490213C>T	(Likely) benign	1 lab	540f1648c3
3:17425471 TBC1D5 Ref too long to show for this DEL>C	3	17425471	17668268	Ref too long to show for this DEL	C	TBC1D5	c.-100-2862_545del	NM_001349074.2	NP_001336003.1:p.?	NC_000003.11:g.17425473_17668268del	VUS	1 lab	5413c596e5
19:40384589 FCGBP C>T	19	40384589	40384589	C	T	FCGBP	c.9415G>A	NM_003890.2	NP_003881.2:p.(Glu3139Lys)	NC_000019.9:g.40384589C>T	(Likely) benign	1 lab	541c9c8dc5
2:179433892 TTN T>C	2	179433892	179433892	T	C	TTN	c.76967A>G	NM_001267550.2	NP_001254479.2:p.(His25656Arg)	NC_000002.11:g.179433892T>C	VUS	1 lab	541cb86f44
1:874847 SAMD11 A>G	1	874847	874847	A	G	SAMD11	c.706+7A>G	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.874847A>G	(Likely) benign	1 lab	541d00579c
4:2457613 MISSING A>Alt too long to show for this DUP	4	2457613	2799768	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.2457615_2799768dup	(Likely) pathogenic	1 lab	54201c2f4d
4:110791360 LRIT3 C>T	4	110791360	110791360	C	T	LRIT3	c.1455C>T	NM_198506.5	NP_940908.3:p.(Ala485=)	NC_000004.11:g.110791360C>T	(Likely) benign	1 lab	54206963a0
2:21228858 APOB T>A	2	21228858	21228858	T	A	APOB	c.10882A>T	NM_000384.3	NP_000375.3:p.(Asn3628Tyr)	NC_000002.11:g.21228858T>A	VUS	1 lab	5420e40993
17:38787171 SMARCE1 G>A	17	38787171	38787171	G	A	SMARCE1	c.822C>T	NM_003079.5	NP_003070.3:p.(Cys274=)	NC_000017.10:g.38787171G>A	(Likely) benign	1 lab	542685fa15
19:55341388 KIR3DL1 G>T	19	55341388	55341388	G	T	KIR3DL1	c.1111G>T	NM_013289.3	NP_037421.2:p.(Ala371Ser)	NC_000019.9:g.55341388G>T	(Likely) benign	1 lab	5426b389db
2:179423251 TTN C>T	2	179423251	179423251	C	T	TTN	c.86935G>A	NM_001267550.2	NP_001254479.2:p.(Val28979Ile)	NC_000002.11:g.179423251C>T	(Likely) benign	1 lab	54291b678f
12:50497869 GPD1 G>A	12	50497869	50497869	G	A	GPD1	c.36G>A	NM_005276.4	NP_005267.2:p.(Gly12=)	NC_000012.11:g.50497869G>A	(Likely) benign	1 lab	5430c852cc
9:107568387 ABCA1 G>GA	9	107568387	107568396	G	GA	ABCA1	c.4464+134dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568396dup	(Likely) benign	1 lab	5432de954b
9:35561920 CIMIP2B T>C	9	35561920	35561920	T	C	CIMIP2B	c.866A>G	NM_001287239.2	NP_001274168.1:p.(Glu289Gly)	NC_000009.11:g.35561920T>C	(Likely) benign	1 lab	5437a29594
7:44144501 AEBP1 A>G	7	44144501	44144501	A	G	AEBP1	c.237A>G	NM_001129.5	NP_001120.3:p.(Pro79=)	NC_000007.13:g.44144501A>G	(Likely) benign	1 lab	54382798eb
18:43493774 EPG5 A>G	18	43493774	43493774	A	G	EPG5	c.3713T>C	NM_020964.3	NP_066015.2:p.(Val1238Ala)	NC_000018.9:g.43493774A>G	VUS	1 lab	543dc53364
9:107599778 ABCA1 C>G	9	107599778	107599778	C	G	ABCA1	c.1125G>C	NM_005502.4	NP_005493.2:p.(Leu375=)	NC_000009.11:g.107599778C>G	(Likely) benign	1 lab	543dd06080
2:234975247 SPP2 T>G	2	234975247	234975247	T	G	SPP2	c.499+16T>G	NM_006944.3	NP_008875.1:p.?	NC_000002.11:g.234975247T>G	(Likely) benign	1 lab	5442ce5a44
14:50597321 SOS2 T>C	14	50597321	50597321	T	C	SOS2	c.3235A>G	NM_006939.4	NP_008870.2:p.(Thr1079Ala)	NC_000014.8:g.50597321T>C	(Likely) benign	1 lab	54448d2570
1:109733067 MISSING C>Alt too long to show for this DUP	1	109733067	109766687	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.109733068_109766687dup	VUS	1 lab	5445af9a5d
16:68863590 CDH1 G>A	16	68863590	68863590	G	A	CDH1	c.2329G>A	NM_004360.5	NP_004351.1:p.(Asp777Asn)	NC_000016.9:g.68863590G>A	(Likely) benign	1 lab	5445b83508
10:69881654 MYPN G>T	10	69881654	69881654	G	T	MYPN	c.459G>T	NM_032578.4	NP_115967.2:p.(Lys153Asn)	NC_000010.10:g.69881654G>T	VUS	1 lab	5446a222d6
21:34927200 SON A>C	21	34927200	34927200	A	C	SON	c.5663A>C	NM_138927.4	NP_620305.3:p.(Lys1888Thr)	NC_000021.8:g.34927200A>C	VUS	1 lab	544b1d08c7
X:70443634 GJB1 C>A	X	70443634	70443634	C	A	GJB1	c.77C>A	NM_000166.6	NP_000157.1:p.(Ser26Ter)	NC_000023.10:g.70443634C>A	(Likely) pathogenic	1 lab	544b926a57
X:153279625 IRAK1 G>A	X	153279625	153279625	G	A	IRAK1	c.1407C>T	NM_001569.4	NP_001560.2:p.(Ile469=)	NC_000023.10:g.153279625G>A	(Likely) benign	1 lab	544c34550b
X:70444108 GJB1 C>G	X	70444108	70444108	C	G	GJB1	c.551C>G	NM_000166.6	NP_000157.1:p.(Pro184Arg)	NC_000023.10:g.70444108C>G	(Likely) pathogenic	1 lab	5450545d47
9:113169816 SVEP1 T>C	9	113169816	113169816	T	C	SVEP1	c.8064A>G	NM_153366.4	NP_699197.3:p.(Gly2688=)	NC_000009.11:g.113169816T>C	(Likely) benign	1 lab	54519e1363
1:10386166 KIF1B T>C	1	10386166	10386166	T	C	KIF1B	c.2538-3T>C	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10386166T>C	(Likely) benign	1 lab	5451c63367
5:37179456 CPLANE1 G>A	5	37179456	37179456	G	A	CPLANE1	c.5820+7C>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37179456G>A	(Likely) benign	1 lab	5458fbc5f5
2:121747987 GLI2 T>C	2	121747987	121747987	T	C	GLI2	c.4497T>C	NM_005270.5	NP_005261.2:p.(Thr1499=)	NC_000002.11:g.121747987T>C	(Likely) benign	1 lab	545bc2c286
16:11650453 LITAF G>A	16	11650453	11650453	G	A	LITAF	c.134C>T	NM_004862.4	NP_004853.2:p.(Thr45Met)	NC_000016.9:g.11650453G>A	VUS	1 lab	545f6e385f
7:100859493 PLOD3 C>T	7	100859493	100859493	C	T	PLOD3	c.453G>A	NM_001084.5	NP_001075.1:p.(Ala151=)	NC_000007.13:g.100859493C>T	(Likely) benign	1 lab	545f963805
19:11223663 LDLR CTT>C	19	11223663	11223685	CTT	C	LDLR	c.1187-270_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223684_11223685del	(Likely) benign	1 lab	546387758a
9:137645694 COL5A1 AG>A	9	137645694	137645697	AG	A	COL5A1	c.1721del	NM_000093.5	NP_000084.3:p.(Gly574ValfsTer8)	NC_000009.11:g.137645697del	(Likely) pathogenic	1 lab	5464c1200b
X:41064714 USP9X C>G	X	41064714	41064714	C	G	USP9X	c.4983C>G	NM_001039590.3	NP_001034679.2:p.(Tyr1661Ter)	NC_000023.10:g.41064714C>G	(Likely) pathogenic	1 lab	5465e6373c
2:219677379 CYP27A1 T>C	2	219677379	219677379	T	C	CYP27A1	c.751T>C	NM_000784.4	NP_000775.1:p.(Ser251Pro)	NC_000002.11:g.219677379T>C	VUS	1 lab	5483d44235
15:48860195 FBN1 T>TAAGA	15	48860195	48860248	T	TAAGA	FBN1	c.538+28281_538+28284dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48860245_48860248dup	(Likely) benign	1 lab	5466acf2c6
16:28808191 MISSING Ref too long to show for this DEL>T	16	28808191	29051191	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.28808194_29051191del	(Likely) pathogenic	1 lab	5467940860
5:176665250 NSD1 T>C	5	176665250	176665250	T	C	NSD1	c.3934T>C	NM_022455.5	NP_071900.2:p.(Cys1312Arg)	NC_000005.9:g.176665250T>C	VUS	1 lab	546a3bc965
1:161275906 MPZ C>G	1	161275906	161275906	C	G	MPZ	c.637G>C	NM_000530.8	NP_000521.2:p.(Gly213Arg)	NC_000001.10:g.161275906C>G	VUS	1 lab	546a942ed7
7:128491604 FLNC G>A	7	128491604	128491604	G	A	FLNC	c.5764G>A	NM_001458.5	NP_001449.3:p.(Ala1922Thr)	NC_000007.13:g.128491604G>A	(Likely) benign	1 lab	546dec4eda
17:48274938 COL1A1 C>T	17	48274938	48274938	C	T	COL1A1	c.696+155G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48274938C>T	(Likely) benign	1 lab	546e834d7d
12:133225519 POLE C>T	12	133225519	133225519	C	T	POLE	c.4145G>A	NM_006231.4	NP_006222.2:p.(Arg1382His)	NC_000012.11:g.133225519C>T	VUS	1 lab	547651cb51
6:152674560 SYNE1 T>G	6	152674560	152674560	T	G	SYNE1	c.11091A>C	NM_182961.4	NP_892006.3:p.(Ile3697=)	NC_000006.11:g.152674560T>G	(Likely) benign	1 lab	54776067ac
2:179419662 TTN A>G	2	179419662	179419662	A	G	TTN	c.88524T>C	NM_001267550.2	NP_001254479.2:p.(Ser29508=)	NC_000002.11:g.179419662A>G	(Likely) benign	1 lab	5477712916
12:59279660 LRIG3 A>T	12	59279660	59279660	A	T	LRIG3	c.1197T>A	NM_153377.5	NP_700356.2:p.(Arg399=)	NC_000012.11:g.59279660A>T	(Likely) benign	1 lab	5478ce9177
12:122260581 SETD1B C>A	12	122260581	122260581	C	A	SETD1B	c.4096C>A	NM_001353345.2	NP_001340274.1:p.(Leu1366Ile)	NC_000012.11:g.122260581C>A	(Likely) benign	1 lab	547a74b559
7:117232273 CFTR A>G	7	117232273	117232273	A	G	CFTR	c.2052A>G	NM_000492.4	NP_000483.3:p.(Lys684=)	NC_000007.13:g.117232273A>G	(Likely) benign	1 lab	547b37b637
16:921042 LMF1 C>T	16	921042	921042	C	T	LMF1	c.679+119G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921042C>T	(Likely) benign	1 lab	547cbee1e3
2:21230092 APOB T>G	2	21230092	21230092	T	G	APOB	c.9648A>C	NM_000384.3	NP_000375.3:p.(Leu3216Phe)	NC_000002.11:g.21230092T>G	VUS	1 lab	5480b97496
10:92675400 ANKRD1 T>C	10	92675400	92675400	T	C	ANKRD1	c.751-2A>G	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675400T>C	VUS	1 lab	54830d03de
X:43809143 NDP T>A	X	43809143	43809143	T	A	NDP	c.304A>T	NM_000266.4	NP_000257.1:p.(Lys102Ter)	NC_000023.10:g.43809143T>A	(Likely) pathogenic	1 lab	5485b79612
19:11216163 LDLR GTA>G	19	11216163	11216165	GTA	G	LDLR	c.582_583del	NM_000527.5	NP_000518.1:p.(Ser194ArgfsTer23)	NC_000019.9:g.11216164_11216165del	(Likely) pathogenic	1 lab	5486d95366
4:40468585 RBM47 T>Alt too long to show for this DUP	4	40468585	40566677	T	Alt too long to show for this DUP	RBM47	c.-239-20153_-32+8dup	NM_001098634.2	NP_001092104.1:p.?	NC_000004.11:g.40468587_40566677dup	VUS	1 lab	54872df87e
17:59761307 BRIP1 G>T	17	59761307	59761307	G	T	BRIP1	c.3100C>A	NM_032043.3	NP_114432.2:p.(Pro1034Thr)	NC_000017.10:g.59761307G>T	VUS	1 lab	548813ad8e
1:216172418 USH2A C>T	1	216172418	216172418	C	T	USH2A	c.6486-18G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216172418C>T	(Likely) benign	1 lab	548885e10f
14:45542624 TOGARAM1 C>T	14	45542624	45542624	C	T	TOGARAM1	c.5182C>T	NM_001308120.2	NP_001295049.1:p.(Arg1728Ter)	NC_000014.8:g.45542624C>T	(Likely) pathogenic	1 lab	548bacb203
14:76438872 TGFB3 A>G	14	76438872	76438872	A	G	TGFB3	c.353-811T>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76438872A>G	(Likely) benign	1 lab	54961d8f9f
15:48808413 FBN1 C>T	15	48808413	48808413	C	T	FBN1	c.1294G>A	NM_000138.5	NP_000129.3:p.(Val432Met)	NC_000015.9:g.48808413C>T	VUS	1 lab	54978eeb01
1:46657800 POMGNT1 G>A	1	46657800	46657800	G	A	POMGNT1	c.1509C>T	NM_001243766.2	NP_001230695.2:p.(Ile503=)	NC_000001.10:g.46657800G>A	(Likely) benign	1 lab	549b6078ba
11:76890955 MYO7A C>T	11	76890955	76890955	C	T	MYO7A	c.2542C>T	NM_000260.4	NP_000251.3:p.(Arg848Trp)	NC_000011.9:g.76890955C>T	VUS	1 lab	549e3d815a
2:44047241 ABCG5 T>C	2	44047241	44047241	T	C	ABCG5	c.1464-2A>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047241T>C	(Likely) pathogenic	1 lab	54a0b4dbe9
1:78392148 NEXN A>C	1	78392148	78392148	A	C	NEXN	c.539A>C	NM_144573.4	NP_653174.3:p.(Lys180Thr)	NC_000001.10:g.78392148A>C	VUS	1 lab	54a42cff09
10:55568530 PCDH15 T>C	10	55568530	55568530	T	C	PCDH15	c.5295A>G	NM_001142769.3	NP_001136241.1:p.(Pro1765=)	NC_000010.10:g.55568530T>C	(Likely) benign	1 lab	54a4debd7b
19:16594793 CALR3 G>A	19	16594793	16594793	G	A	CALR3	c.626C>T	NM_145046.5	NP_659483.2:p.(Thr209Met)	NC_000019.9:g.16594793G>A	VUS	1 lab	54a67bd386
2:21265329 APOB C>T	2	21265329	21265329	C	T	APOB	c.141G>A	NM_000384.3	NP_000375.3:p.(Lys47=)	NC_000002.11:g.21265329C>T	(Likely) benign	1 lab	54a9381c8e
8:100654708 VPS13B T>C	8	100654708	100654708	T	C	VPS13B	c.5965T>C	NM_017890.5	NP_060360.3:p.(Ser1989Pro)	NC_000008.10:g.100654708T>C	(Likely) benign	1 lab	54ab5f79d3
21:34922386 SON TCCAGAGCCATCA>T	21	34922386	34922398	TCCAGAGCCATCA	T	SON	c.850_861del	NM_138927.4	NP_620305.3:p.(Pro284_Ser287del)	NC_000021.8:g.34922387_34922398del	VUS	1 lab	54b0d2d186
8:144285728 MISSING T>Alt too long to show for this DUP	8	144285728	144747225	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.144285729_144747225dup	VUS	1 lab	54b2a71357
8:98850746 MISSING A>Alt too long to show for this DUP	8	98850746	99087738	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.98850747_99087738dup	VUS	1 lab	54b2b70ca4
20:62103681 KCNQ2 C>A	20	62103681	62103681	C	A	KCNQ2	c.136G>T	NM_172107.4	NP_742105.1:p.(Glu46Ter)	NC_000020.10:g.62103681C>A	(Likely) pathogenic	1 lab	54b48531a3
10:27702804 PTCHD3 T>C	10	27702804	27702804	T	C	PTCHD3	c.376A>G	NM_001034842.4	NP_001030014.2:p.(Thr126Ala)	NC_000010.10:g.27702804T>C	(Likely) benign	1 lab	54b4a26792
1:74835124 TNNI3K C>T	1	74835124	74835124	C	T	TNNI3K	c.1522C>T	NM_015978.3	NP_057062.1:p.(Arg508Ter)	NC_000001.10:g.74835124C>T	VUS	1 lab	54b6bb304b
X:14748569 GLRA2 T>C	X	14748569	14748569	T	C	GLRA2	c.1321T>C	NM_002063.4	NP_002054.1:p.(Tyr441His)	NC_000023.10:g.14748569T>C	VUS	1 lab	54b728df80
6:16147098 MYLIP TA>T	6	16147098	16147112	TA	T	MYLIP	c.*130del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16147112del	(Likely) benign	1 lab	54b8ae59de
2:5833094 SOX11 A>C	2	5833094	5833094	A	C	SOX11	c.241A>C	NM_003108.4	NP_003099.1:p.(Lys81Gln)	NC_000002.11:g.5833094A>C	(Likely) benign	1 lab	54b994cb7f
1:3313121 PRDM16 G>A	1	3313121	3313121	G	A	PRDM16	c.640G>A	NM_022114.4	NP_071397.3:p.(Val214Ile)	NC_000001.10:g.3313121G>A	VUS	1 lab	54ba347914
5:14666863 OTULIN C>Alt too long to show for this DUP	5	14666863	14709857	C	Alt too long to show for this DUP	OTULIN				NC_000005.9:g.14666865_14709857dup	VUS	1 lab	54ba61ca68
12:21331946 SLCO1B1 T>C	12	21331946	21331946	T	C	SLCO1B1	c.719T>C	NM_006446.5	NP_006437.3:p.(Val240Ala)	NC_000012.11:g.21331946T>C	(Likely) benign	1 lab	54bacf665e
1:156851351 NTRK1 C>T	1	156851351	156851351	C	T	NTRK1	c.2308C>T	NM_002529.4	NP_002520.2:p.(Gln770Ter)	NC_000001.10:g.156851351C>T	(Likely) pathogenic	1 lab	54c198228b
2:73829448 ALMS1 G>T	2	73829448	73829448	G	T	ALMS1	c.12254G>T	NM_015120.4	NP_055935.4:p.(Arg4085Met)	NC_000002.11:g.73829448G>T	(Likely) benign	1 lab	54c752ff0f
X:153416109 OPN1LW C>G	X	153416109	153416109	C	G	OPN1LW	c.113-19C>G	NM_020061.6	NP_064445.2:p.?	NC_000023.10:g.153416109C>G	(Likely) benign	1 lab	54c7a16696
11:129784917 PRDM10 A>G	11	129784917	129784917	A	G	PRDM10	c.2539-4T>C	NM_020228.3	NP_064613.2:p.?	NC_000011.9:g.129784917A>G	VUS	1 lab	5564cb558a
10:112540668 RBM20 C>T	10	112540668	112540668	C	T	RBM20	c.301C>T	NM_001134363.3	NP_001127835.2:p.(His101Tyr)	NC_000010.10:g.112540668C>T	VUS	1 lab	54ca687963
14:23887605 MYH7 G>T	14	23887605	23887605	G	T	MYH7	c.3983C>A	NM_000257.4	NP_000248.2:p.(Ala1328Asp)	NC_000014.8:g.23887605G>T	VUS	1 lab	54cb375d20
1:237777746 RYR2 A>G	1	237777746	237777746	A	G	RYR2	c.5318A>G	NM_001035.3	NP_001026.2:p.(Asn1773Ser)	NC_000001.10:g.237777746A>G	VUS	1 lab	54cb7fe84a
3:4738837 ITPR1 A>G	3	4738837	4738837	A	G	ITPR1	c.4243A>G	NM_001168272.2	NP_001161744.1:p.(Ile1415Val)	NC_000003.11:g.4738837A>G	(Likely) benign	1 lab	54cf635932
17:56438156 RNF43 G>A	17	56438156	56438156	G	A	RNF43	c.837C>T	NM_017763.6	NP_060233.3:p.(Phe279=)	NC_000017.10:g.56438156G>A	(Likely) benign	1 lab	54d02ffe7a
1:218594715 TGFB2 G>GT	1	218594715	218594730	G	GT	TGFB2	c.595-12694dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218594730dup	(Likely) benign	1 lab	54d2ff444a
2:70456452 TIA1 T>TA	2	70456452	70456464	T	TA	TIA1	c.223-3dup	NM_022173.4	NP_071505.2:p.?	NC_000002.11:g.70456464dup	(Likely) benign	1 lab	54d4359de0
9:79974332 VPS13A T>TAC	9	79974332	79974335	T	TAC	VPS13A	c.8105+16_8105+17dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79974334_79974335dup	(Likely) benign	1 lab	54d776cdb6
1:113456265 MISSING Ref too long to show for this DEL>G	1	113456265	113566993	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.113456266_113566993del	VUS	1 lab	54d7c651ad
2:44053530 ABCG5 C>T	2	44053530	44053530	C	T	ABCG5	c.765G>A	NM_022436.3	NP_071881.1:p.(Glu255=)	NC_000002.11:g.44053530C>T	(Likely) benign	1 lab	54d8b11584
2:15319255 NBAS CA>C	2	15319255	15319256	CA	C	NBAS	c.6712-16del	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15319256del	(Likely) benign	1 lab	54d8bdb58f
5:82817219 VCAN C>G	5	82817219	82817219	C	G	VCAN	c.3094C>G	NM_004385.5	NP_004376.2:p.(Gln1032Glu)	NC_000005.9:g.82817219C>G	(Likely) benign	1 lab	54d8f2e418
9:107600193 ABCA1 A>G	9	107600193	107600193	A	G	ABCA1	c.1055-345T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107600193A>G	(Likely) benign	1 lab	54dc15023c
20:54824402 MC3R T>A	20	54824402	54824402	T	A	MC3R	c.503T>A	NM_019888.3	NP_063941.3:p.(Ile168Asn)	NC_000020.10:g.54824402T>A	VUS	1 lab	54ddc2010f
2:239988468 HDAC4 C>T	2	239988468	239988468	C	T	HDAC4	c.2938G>A	NM_006037.4	NP_006028.2:p.(Ala980Thr)	NC_000002.11:g.239988468C>T	VUS	1 lab	5504205cf6
9:18745132 MISSING T>Alt too long to show for this DUP	9	18745132	18997283	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.18745134_18997283dup	VUS	1 lab	54de716fb4
12:33022309 PKP2 A>G	12	33022309	33022309	A	G	PKP2	c.1035-313T>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33022309A>G	(Likely) benign	1 lab	54e15e5fe2
19:11216248 LDLR C>T	19	11216248	11216248	C	T	LDLR	c.666C>T	NM_000527.5	NP_000518.1:p.(Cys222=)	NC_000019.9:g.11216248C>T	(Likely) pathogenic	1 lab	54e16fc82a
5:13769692 DNAH5 GC>G	5	13769692	13769693	GC	G	DNAH5	c.9637del	NM_001369.3	NP_001360.1:p.(Ala3213LeufsTer8)	NC_000005.9:g.13769693del	(Likely) pathogenic	1 lab	54e2677467
11:47367472 MYBPC3 C>T	11	47367472	47367472	C	T	MYBPC3	c.1090+286G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367472C>T	(Likely) benign	1 lab	54e445db12
X:135076968 SLC9A6 C>T	X	135076968	135076968	C	T	SLC9A6	c.349C>T	NM_001042537.2	NP_001036002.1:p.(Arg117Trp)	NC_000023.10:g.135076968C>T	VUS	1 lab	54e5c4b272
12:125298882 SCARB1 G>A	12	125298882	125298882	G	A	SCARB1	c.496C>T	NM_001367981.1	NP_001354910.1:p.(Leu166Phe)	NC_000012.11:g.125298882G>A	(Likely) benign	1 lab	54ea47e12a
2:241658426 KIF1A G>C	2	241658426	241658426	G	C	KIF1A	c.5211C>G	NM_001244008.2	NP_001230937.1:p.(Leu1737=)	NC_000002.11:g.241658426G>C	(Likely) benign	1 lab	54eb2dacc1
3:38655215 SCN5A T>C	3	38655215	38655215	T	C	SCN5A	c.703+19A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38655215T>C	(Likely) benign	1 lab	54eb5d8158
20:45354951 SLC2A10 G>T	20	45354951	45354951	G	T	SLC2A10	c.1276G>T	NM_030777.4	NP_110404.1:p.(Gly426Trp)	NC_000020.10:g.45354951G>T	(Likely) pathogenic	1 lab	54ed077824
11:47433607 SLC39A13 G>A	11	47433607	47433607	G	A	SLC39A13	c.415+17G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47433607G>A	(Likely) benign	1 lab	54ed6c7ebb
15:67473814 SMAD3 G>C	15	67473814	67473814	G	C	SMAD3	c.871+23G>C	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473814G>C	(Likely) benign	1 lab	54edd6bcb7
6:2175705 MISSING C>Alt too long to show for this DUP	6	2175705	2275208	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.2175708_2275208dup	VUS	1 lab	54ee6a4dad
2:21233877 APOB C>T	2	21233877	21233877	C	T	APOB	c.5863G>A	NM_000384.3	NP_000375.3:p.(Val1955Met)	NC_000002.11:g.21233877C>T	(Likely) benign	1 lab	54efa33697
13:27885463 MISSING A>Alt too long to show for this DUP	13	27885463	28100483	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.27885466_28100483dup	(Likely) pathogenic	1 lab	54f0e0778e
11:47370283 MYBPC3 C>T	11	47370283	47370283	C	T	MYBPC3	c.655-191G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370283C>T	(Likely) benign	1 lab	54f29ee0a6
7:128486211 FLNC G>A	7	128486211	128486211	G	A	FLNC	c.3958G>A	NM_001458.5	NP_001449.3:p.(Glu1320Lys)	NC_000007.13:g.128486211G>A	VUS	1 lab	54f3177426
X:135291619 FHL1 G>A	X	135291619	135291619	G	A	FHL1	c.689-411G>A	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135291619G>A	(Likely) benign	1 lab	54f47ddcab
16:88805055 PIEZO1 G>A	16	88805055	88805055	G	A	PIEZO1	c.555C>T	NM_001142864.4	NP_001136336.2:p.(Ala185=)	NC_000016.9:g.88805055G>A	(Likely) benign	1 lab	54f4ffbc34
2:109352091 RANBP2 G>A	2	109352091	109352091	G	A	RANBP2	c.509G>A	NM_006267.5	NP_006258.3:p.(Arg170Gln)	NC_000002.11:g.109352091G>A	VUS	1 lab	54f5f3cbf2
12:50498474 GPD1 C>A	12	50498474	50498474	C	A	GPD1	c.159C>A	NM_005276.4	NP_005267.2:p.(Ile53=)	NC_000012.11:g.50498474C>A	(Likely) benign	1 lab	54f71b3c03
15:22669051 MISSING A>Alt too long to show for this DUP	15	22669051	23496917	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22669052_23496917dup	VUS	1 lab	54f947340b
1:167871297 ADCY10 GA>G	1	167871297	167871311	GA	G	ADCY10	c.254-6del	NM_018417.6	NP_060887.2:p.?	NC_000001.10:g.167871311del	(Likely) benign	1 lab	54fe779922
20:19915769 RIN2 C>T	20	19915769	19915769	C	T	RIN2	c.231C>T	NM_001242581.2	NP_001229510.1:p.(Ile77=)	NC_000020.10:g.19915769C>T	(Likely) benign	1 lab	54ff3ac17d
11:47369505 MYBPC3 G>A	11	47369505	47369505	G	A	MYBPC3	c.773-49C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369505G>A	(Likely) benign	1 lab	550260b81f
3:48604576 COL7A1 G>T	3	48604576	48604576	G	T	COL7A1	c.8094C>A	NM_000094.4	NP_000085.1:p.(Gly2698=)	NC_000003.11:g.48604576G>T	(Likely) benign	1 lab	5504228e1f
8:59409504 CYP7A1 G>GA	8	59409504	59409505	G	GA	CYP7A1	c.566_567insT	NM_000780.4	NP_000771.2:p.(Arg190GlnfsTer18)	NC_000008.10:g.59409504_59409505insA	(Likely) pathogenic	1 lab	5507558eb9
2:238451271 MLPH C>T	2	238451271	238451271	C	T	MLPH	c.1508C>T	NM_024101.7	NP_077006.1:p.(Ser503Leu)	NC_000002.11:g.238451271C>T	(Likely) benign	1 lab	550cbea01d
11:47359038 MYBPC3 T>C	11	47359038	47359038	T	C	MYBPC3	c.2506A>G	NM_000256.3	NP_000247.2:p.(Met836Val)	NC_000011.9:g.47359038T>C	VUS	1 lab	550cd3ecb3
1:156108487 LMNA GCTTC>G	1	156108487	156108491	GCTTC	G	LMNA	c.1908_1911del	NM_170707.4	NP_733821.1:p.(Ser636ArgfsTer61)	NC_000001.10:g.156108488_156108491del	(Likely) benign	1 lab	551307001a
17:33600664 MISSING T>Alt too long to show for this DUP	17	33600664	33750572	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.33600667_33750572dup	VUS	1 lab	5517636ae7
9:79896788 VPS13A A>G	9	79896788	79896788	A	G	VPS13A	c.2910A>G	NM_033305.3	NP_150648.2:p.(Glu970=)	NC_000009.11:g.79896788A>G	(Likely) benign	1 lab	551aa847a2
20:32026838 SNTA1 C>G	20	32026838	32026838	C	G	SNTA1	c.311-6G>C	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32026838C>G	(Likely) benign	1 lab	551c794e9a
10:133905148 MISSING T>Alt too long to show for this DUP	10	133905148	134573030	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.133905150_134573030dup	VUS	1 lab	551c955faf
16:904602 LMF1 G>A	16	904602	904602	G	A	LMF1	c.1634C>T	NM_022773.4	NP_073610.2:p.(Pro545Leu)	NC_000016.9:g.904602G>A	VUS	1 lab	551fc31912
16:1020985 LMF1 G>A	16	1020985	1020985	G	A	LMF1	c.-5C>T	NM_001352020.1	NP_001338949.1:p.?	NC_000016.9:g.1020985G>A	VUS	1 lab	555159989c
1:55525202 PCSK9 G>T	1	55525202	55525202	G	T	PCSK9	c.1547G>T	NM_174936.4	NP_777596.2:p.(Gly516Val)	NC_000001.10:g.55525202G>T	(Likely) pathogenic	1 lab	55259bdef3
1:151733379 MRPL9 C>CAAAAAAAAA	1	151733379	151733402	C	CAAAAAAAAA	MRPL9	c.589-13_589-5dup	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151733394_151733402dup	(Likely) benign	1 lab	55284d59b1
7:21609805 DNAH11 G>GA	7	21609805	21609812	G	GA	DNAH11	c.1320dup	NM_001277115.2	NP_001264044.1:p.(Leu441IlefsTer25)	NC_000007.13:g.21609812dup	(Likely) pathogenic	1 lab	552eda6a9c
12:124414290 DNAH10 A>C	12	124414290	124414290	A	C	DNAH10	c.12242A>C	NM_207437.3	NP_997320.2:p.(Lys4081Thr)	NC_000012.11:g.124414290A>C	VUS	1 lab	552f82b70c
12:117996323 KSR2 T>C	12	117996323	117996323	T	C	KSR2	c.1381A>G	NM_173598.6	NP_775869.4:p.(Ile461Val)	NC_000012.11:g.117996323T>C	VUS	1 lab	5531ce77aa
12:21327652 SLCO1B1 TA>T	12	21327652	21327666	TA	T	SLCO1B1	c.359+23del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327666del	(Likely) benign	1 lab	553255cad2
6:32552140 HLA-DRB1 TG>T	6	32552140	32552141	TG	T	HLA-DRB1	c.115del	NM_002124.4	NP_002115.2:p.(Gln39SerfsTer41)	NC_000006.11:g.32552141del	(Likely) benign	1 lab	55341b0561
15:85401755 ALPK3 C>G	15	85401755	85401755	C	G	ALPK3	c.3786C>G	NM_020778.5	NP_065829.4:p.(Ala1262=)	NC_000015.9:g.85401755C>G	(Likely) benign	1 lab	55364c3e36
4:100512017 MTTP CA>C	4	100512017	100512018	CA	C	MTTP	c.502-374del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512018del	(Likely) benign	1 lab	55374d6257
1:197396577 CRB1 A>G	1	197396577	197396577	A	G	CRB1	c.1922-7A>G	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197396577A>G	(Likely) benign	1 lab	55390a65d8
2:21226560 APOB A>G	2	21226560	21226560	A	G	APOB	c.12088-354T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226560A>G	(Likely) benign	1 lab	553a0141b0
8:24811681 NEFL C>T	8	24811681	24811681	C	T	NEFL	c.1169+14G>A	NM_006158.5	NP_006149.2:p.?	NC_000008.10:g.24811681C>T	(Likely) benign	1 lab	553a329766
5:233597 SDHA T>C	5	233597	233597	T	C	SDHA	c.901T>C	NM_004168.4	NP_004159.2:p.(Tyr301His)	NC_000005.9:g.233597T>C	VUS	1 lab	553d33f6db
6:7542229 DSP C>G	6	7542229	7542229	C	G	DSP	c.81C>G	NM_004415.4	NP_004406.2:p.(Arg27=)	NC_000006.11:g.7542229C>G	(Likely) benign	1 lab	553ee4493d
8:19813411 LPL C>G	8	19813411	19813411	C	G	LPL	c.835C>G	NM_000237.3	NP_000228.1:p.(Leu279Val)	NC_000008.10:g.19813411C>G	(Likely) pathogenic	1 lab	554510496c
11:63426695 ATL3 G>C	11	63426695	63426695	G	C	ATL3	c.22C>G	NM_001290048.2	NP_001276977.1:p.(Pro8Ala)	NC_000011.9:g.63426695G>C	VUS	1 lab	5546fb5c7d
15:93547852 CHD2 A>G	15	93547852	93547852	A	G	CHD2	c.4284A>G	NM_001271.4	NP_001262.3:p.(Lys1428=)	NC_000015.9:g.93547852A>G	(Likely) benign	1 lab	554971ed0d
5:13701490 DNAH5 T>TTCTGG	5	13701490	13701492	T	TTCTGG	DNAH5	c.13393_13394insCCAGA	NM_001369.3	NP_001360.1:p.(Asn4465ThrfsTer20)	NC_000005.9:g.13701491_13701492insCTGGT	(Likely) pathogenic	1 lab	5549c99017
4:148516876 MISSING Ref too long to show for this DEL>A	4	148516876	148540796	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.148516880_148540796del	VUS	1 lab	554afc9c72
9:27228274 TEK T>C	9	27228274	27228274	T	C	TEK	c.3271T>C	NM_000459.5	NP_000450.3:p.(Ser1091Pro)	NC_000009.11:g.27228274T>C	VUS	1 lab	554bb6d38c
13:32911482 BRCA2 T>G	13	32911482	32911482	T	G	BRCA2	c.2990T>G	NM_000059.4	NP_000050.3:p.(Leu997Ter)	NC_000013.10:g.32911482T>G	(Likely) pathogenic	1 lab	554c850362
16:920867 LMF1 C>A	16	920867	920867	C	A	LMF1	c.695G>T	NM_001352018.2	NP_001338947.1:p.(Arg232Leu)	NC_000016.9:g.920867C>A	VUS	1 lab	554e7f4287
2:29445192 ALK G>A	2	29445192	29445192	G	A	ALK	c.3515+18C>T	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29445192G>A	(Likely) benign	1 lab	554ef3a951
15:45453032 DUOX1 T>C	15	45453032	45453032	T	C	DUOX1	c.3703-3T>C	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45453032T>C	(Likely) benign	1 lab	5556a61491
21:47532069 COL6A2 G>A	21	47532069	47532069	G	A	COL6A2	c.292G>A	NM_058175.3	NP_478055.2:p.(Gly98Ser)	NC_000021.8:g.47532069G>A	VUS	1 lab	555866fdc8
9:139405232 NOTCH1 G>A	9	139405232	139405232	G	A	NOTCH1	c.2613C>T	NM_017617.5	NP_060087.3:p.(Asn871=)	NC_000009.11:g.139405232G>A	(Likely) benign	1 lab	5559341598
1:6529807 PLEKHG5 C>T	1	6529807	6529807	C	T	PLEKHG5	c.1801-71G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6529807C>T	(Likely) benign	1 lab	555a3d70a3
18:77168353 MISSING Ref too long to show for this DEL>A	18	77168353	77893945	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.77168354_77893945del	(Likely) pathogenic	1 lab	555aa45cbd
3:195512867 MUC4 C>T	3	195512867	195512867	C	T	MUC4	c.5584G>A	NM_018406.7	NP_060876.5:p.(Ala1862Thr)	NC_000003.11:g.195512867C>T	(Likely) benign	1 lab	555ba511c6
2:21234811 APOB C>T	2	21234811	21234811	C	T	APOB	c.4929G>A	NM_000384.3	NP_000375.3:p.(Ala1643=)	NC_000002.11:g.21234811C>T	(Likely) benign	1 lab	555bbdb750
10:88428502 LDB3 G>C	10	88428502	88428502	G	C	LDB3	c.54G>C	NM_001171610.2	NP_001165081.1:p.(Gln18His)	NC_000010.10:g.88428502G>C	VUS	1 lab	555e9910f1
3:50329715 IFRD2 C>A	3	50329715	50329715	C	A	IFRD2	c.-10G>T	NM_006764.5	NP_006755.5:p.?	NC_000003.11:g.50329715C>A	(Likely) benign	1 lab	555f5bbc7b
12:118298156 KSR2 G>A	12	118298156	118298156	G	A	KSR2	c.261C>T	NM_173598.6	NP_775869.4:p.(Asp87=)	NC_000012.11:g.118298156G>A	(Likely) benign	1 lab	555f660faa
3:119133568 ARHGAP31 T>A	3	119133568	119133568	T	A	ARHGAP31	c.2792T>A	NM_020754.4	NP_065805.2:p.(Val931Glu)	NC_000003.11:g.119133568T>A	VUS	1 lab	5567451290
1:3322042 PRDM16 G>T	1	3322042	3322042	G	T	PRDM16	c.1033-17G>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3322042G>T	(Likely) benign	1 lab	55688f9ccf
X:69811536 TEX11 Ref too long to show for this DEL>G	X	69811536	69841561	Ref too long to show for this DEL	G	TEX11	c.1751+2239_2140+64del	NM_031276.3	NP_112566.2:p.?	NC_000023.10:g.69811537_69841561del	VUS	1 lab	55694426c7
1:116275596 CASQ2 C>T	1	116275596	116275596	C	T	CASQ2	c.533-1G>A	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116275596C>T	(Likely) pathogenic	1 lab	55696bc2a6
16:68718539 CDH3 C>T	16	68718539	68718539	C	T	CDH3	c.1071C>T	NM_001317196.2	NP_001304125.1:p.(Asn357=)	NC_000016.9:g.68718539C>T	(Likely) benign	1 lab	55696fcc71
10:74124792 MISSING G>Alt too long to show for this DUP	10	74124792	74305014	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.74124795_74305014dup	VUS	1 lab	556b9f4da6
10:112540738 RBM20 T>C	10	112540738	112540738	T	C	RBM20	c.371T>C	NM_001134363.3	NP_001127835.2:p.(Leu124Pro)	NC_000010.10:g.112540738T>C	VUS	1 lab	556cfef701
12:122260968 SETD1B C>T	12	122260968	122260968	C	T	SETD1B	c.4483C>T	NM_001353345.2	NP_001340274.1:p.(Arg1495Cys)	NC_000012.11:g.122260968C>T	(Likely) benign	1 lab	556dcef8e7
14:93140256 MISSING Ref too long to show for this DEL>C	14	93140256	93178339	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.93140257_93178339del	VUS	1 lab	556dfd0dff
19:11227958 LDLR G>GTTCCGGCTAC	19	11227958	11227959	G	GTTCCGGCTAC	LDLR	c.1845+284_1845+285insTTCCGGCTAC	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227958_11227959insTTCCGGCTAC	(Likely) benign	1 lab	55702892b8
8:100832183 VPS13B C>A	8	100832183	100832183	C	A	VPS13B	c.8902C>A	NM_017890.5	NP_060360.3:p.(Arg2968=)	NC_000008.10:g.100832183C>A	(Likely) benign	1 lab	557061794e
1:89528855 GBP1 C>T	1	89528855	89528855	C	T	GBP1	c.63G>A	NM_002053.3	NP_002044.2:p.(Leu21=)	NC_000001.10:g.89528855C>T	(Likely) benign	1 lab	55720df873
19:11221506 LDLR A>C	19	11221506	11221506	A	C	LDLR	c.1060+59A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221506A>C	VUS	1 lab	5573e2adae
19:6850719 VAV1 CAGA>C	19	6850719	6850724	CAGA	C	VAV1	c.2171_2173del	NM_005428.4	NP_005419.2:p.(Glu724del)	NC_000019.9:g.6850722_6850724del	VUS	1 lab	55740a49e9
5:90261355 ADGRV1 A>G	5	90261355	90261355	A	G	ADGRV1	c.17973+7A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90261355A>G	(Likely) benign	1 lab	55765560da
11:1018001 MUC6 A>C	11	1018001	1018001	A	C	MUC6	c.4800T>G	NM_005961.3	NP_005952.2:p.(Thr1600=)	NC_000011.9:g.1018001A>C	(Likely) benign	1 lab	5579b21906
2:21266789 APOB GC>G	2	21266789	21266791	GC	G	APOB	c.28del	NM_000384.3	NP_000375.3:p.(Ala10ArgfsTer83)	NC_000002.11:g.21266791del	VUS	1 lab	557a5eb6da
X:135288597 FHL1 G>A	X	135288597	135288597	G	A	FHL1	c.54G>A	NM_001159699.2	NP_001153171.1:p.(Ala18=)	NC_000023.10:g.135288597G>A	(Likely) benign	1 lab	557b7ceda8
17:68172380 KCNJ2 G>A	17	68172380	68172380	G	A	KCNJ2	c.1200G>A	NM_000891.3	NP_000882.1:p.(Thr400=)	NC_000017.10:g.68172380G>A	(Likely) benign	1 lab	557ff1b9d5
11:19209848 CSRP3 G>C	11	19209848	19209848	G	C	CSRP3	c.116C>G	NM_003476.5	NP_003467.1:p.(Ala39Gly)	NC_000011.9:g.19209848G>C	VUS	1 lab	557ff3df4d
5:148442534 SH3TC2 C>T	5	148442534	148442534	C	T	SH3TC2	c.52G>A	NM_024577.4	NP_078853.2:p.(Gly18Ser)	NC_000005.9:g.148442534C>T	VUS	1 lab	5582a43aa7
19:11222344 LDLR C>A	19	11222344	11222344	C	A	LDLR	c.1186+29C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222344C>A	(Likely) benign	1 lab	5584215d1f
12:109998860 MMAB C>T	12	109998860	109998860	C	T	MMAB	c.569G>A	NM_052845.4	NP_443077.1:p.(Arg190His)	NC_000012.11:g.109998860C>T	(Likely) pathogenic	1 lab	558423fcbc
19:7606554 PNPLA6 G>A	19	7606554	7606554	G	A	PNPLA6	c.1179G>A	NM_001166111.2	NP_001159583.1:p.(Pro393=)	NC_000019.9:g.7606554G>A	(Likely) benign	1 lab	5584982ee7
8:76109387 MISSING G>Alt too long to show for this DUP	8	76109387	76630707	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.76109389_76630707dup	VUS	1 lab	5586b620ae
1:98157331 DPYD C>T	1	98157331	98157331	C	T	DPYD	c.704G>A	NM_000110.4	NP_000101.2:p.(Arg235Gln)	NC_000001.10:g.98157331C>T	(Likely) pathogenic	1 lab	558b94db90
1:74808508 TNNI3K C>G	1	74808508	74808508	C	G	TNNI3K	c.683-18C>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74808508C>G	(Likely) benign	1 lab	558c97a777
2:21227482 APOB G>A	2	21227482	21227482	G	A	APOB	c.11854C>T	NM_000384.3	NP_000375.3:p.(Arg3952Cys)	NC_000002.11:g.21227482G>A	(Likely) benign	1 lab	558d2c0975
2:238268730 COL6A3 C>T	2	238268730	238268730	C	T	COL6A3	c.6282+1G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238268730C>T	(Likely) pathogenic	1 lab	558d715715
18:19353639 MIB1 C>T	18	19353639	19353639	C	T	MIB1	c.586C>T	NM_020774.4	NP_065825.1:p.(Leu196Phe)	NC_000018.9:g.19353639C>T	VUS	1 lab	55957b8a0d
18:28648060 DSC2 T>A	18	28648060	28648060	T	A	DSC2	c.2627A>T	NM_024422.6	NP_077740.1:p.(Gln876Leu)	NC_000018.9:g.28648060T>A	VUS	1 lab	5596872166
11:68704308 IGHMBP2 C>T	11	68704308	68704308	C	T	IGHMBP2	c.2360C>T	NM_002180.3	NP_002171.2:p.(Pro787Leu)	NC_000011.9:g.68704308C>T	VUS	1 lab	559933bc19
2:179433047 TTN A>T	2	179433047	179433047	A	T	TTN	c.77812T>A	NM_001267550.2	NP_001254479.2:p.(Trp25938Arg)	NC_000002.11:g.179433047A>T	VUS	1 lab	559cf2338a
3:38770080 SCN10A T>C	3	38770080	38770080	T	C	SCN10A	c.2593A>G	NM_006514.4	NP_006505.4:p.(Ile865Val)	NC_000003.11:g.38770080T>C	(Likely) benign	1 lab	55a27ff031
2:44055611 ABCG5 CAAA>C	2	44055611	44055632	CAAA	C	ABCG5	c.502-360_502-358del	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055630_44055632del	(Likely) benign	1 lab	55a29379ad
1:3348600 PRDM16 C>A	1	3348600	3348600	C	A	PRDM16	c.3592C>A	NM_022114.4	NP_071397.3:p.(Leu1198Ile)	NC_000001.10:g.3348600C>A	VUS	1 lab	55a7418417
X:91125205 PCDH11X Ref too long to show for this DEL>C	X	91125205	91223922	Ref too long to show for this DEL	C	PCDH11X	c.541-6573_3033+89650del	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91125207_91223922del	VUS	1 lab	55aa13d691
13:32913995 BRCA2 A>G	13	32913995	32913995	A	G	BRCA2	c.5503A>G	NM_000059.4	NP_000050.3:p.(Asn1835Asp)	NC_000013.10:g.32913995A>G	(Likely) benign	1 lab	55abe57602
6:65301216 EYS C>T	6	65301216	65301216	C	T	EYS	c.4544G>A	NM_001292009.2	NP_001278938.1:p.(Arg1515Gln)	NC_000006.11:g.65301216C>T	(Likely) benign	1 lab	55b00c3bbd
4:114232454 ANK2 T>C	4	114232454	114232454	T	C	ANK2	c.2697T>C	NM_001386174.1	NP_001373103.1:p.(Pro899=)	NC_000004.11:g.114232454T>C	(Likely) benign	1 lab	55b0c48bcf
18:7011427 LAMA1 A>G	18	7011427	7011427	A	G	LAMA1	c.3559T>C	NM_005559.4	NP_005550.2:p.(Leu1187=)	NC_000018.9:g.7011427A>G	(Likely) benign	1 lab	55b5610a6a
2:44040392 ABCG5 G>C	2	44040392	44040392	G	C	ABCG5	c.1819C>G	NM_022436.3	NP_071881.1:p.(Gln607Glu)	NC_000002.11:g.44040392G>C	VUS	1 lab	55b659f75f
8:55537578 RP1 G>T	8	55537578	55537578	G	T	RP1	c.1136G>T	NM_006269.2	NP_006260.1:p.(Gly379Val)	NC_000008.10:g.55537578G>T	VUS	1 lab	55b8d88bc6
20:62659926 PRPF6 AG>A	20	62659926	62659931	AG	A	PRPF6	c.2431+9del	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62659931del	(Likely) benign	1 lab	55d0a61a1f
1:5969270 NPHP4 G>A	1	5969270	5969270	G	A	NPHP4	c.1445C>T	NM_015102.5	NP_055917.1:p.(Pro482Leu)	NC_000001.10:g.5969270G>A	VUS	1 lab	55c1889975
16:71061495 HYDIN A>G	16	71061495	71061495	A	G	HYDIN				NC_000016.9:g.71061495A>G	(Likely) benign	1 lab	55c2695373
7:147966005 CNTNAP2 Ref too long to show for this DEL>G	7	147966005	147968069	Ref too long to show for this DEL	G	CNTNAP2	c.3475+1790_3475+3851del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147966008_147968069del	VUS	1 lab	55c5f5f044
22:19241642 MISSING Ref too long to show for this DEL>G	22	19241642	19295454	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.19241645_19295454del	VUS	1 lab	55cc2e3560
10:28884959 WAC CAGAA>C	10	28884959	28884968	CAGAA	C	WAC	c.914_917del	NM_016628.5	NP_057712.2:p.(Arg305LysfsTer25)	NC_000010.10:g.28884965_28884968del	(Likely) pathogenic	1 lab	55d01ae07a
2:179419438 TTN C>T	2	179419438	179419438	C	T	TTN	c.88636G>A	NM_001267550.2	NP_001254479.2:p.(Val29546Ile)	NC_000002.11:g.179419438C>T	VUS	1 lab	55d03b1dfd
2:179594202 TTN C>G	2	179594202	179594202	C	G	TTN	c.18681G>C	NM_001267550.2	NP_001254479.2:p.(Pro6227=)	NC_000002.11:g.179594202C>G	(Likely) benign	1 lab	55d24b3f22
13:48881537 RB1 G>A	13	48881537	48881537	G	A	RB1	c.259G>A	NM_000321.3	NP_000312.2:p.(Val87Ile)	NC_000013.10:g.48881537G>A	(Likely) benign	1 lab	55d6ebf974
2:179428211 TTN C>T	2	179428211	179428211	C	T	TTN	c.82648G>A	NM_001267550.2	NP_001254479.2:p.(Ala27550Thr)	NC_000002.11:g.179428211C>T	VUS	1 lab	55d7aa74fc
8:100847461 VPS13B G>A	8	100847461	100847461	G	A	VPS13B	c.9726G>A	NM_017890.5	NP_060360.3:p.(Val3242=)	NC_000008.10:g.100847461G>A	(Likely) benign	1 lab	55df63cd3c
3:195513180 MUC4 C>G	3	195513180	195513180	C	G	MUC4	c.5271G>C	NM_018406.7	NP_060876.5:p.(Gln1757His)	NC_000003.11:g.195513180C>G	(Likely) benign	1 lab	55e0011268
11:47366634 MYBPC3 C>A	11	47366634	47366634	C	A	MYBPC3	c.1090+1124G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366634C>A	(Likely) benign	1 lab	55e20e017c
12:111356941 MYL2 C>A	12	111356941	111356941	C	A	MYL2	c.60G>T	NM_000432.4	NP_000423.2:p.(Met20Ile)	NC_000012.11:g.111356941C>A	VUS	1 lab	55e2b57ff6
9:119524259 ASTN2 A>Alt too long to show for this DUP	9	119524259	119547966	A	Alt too long to show for this DUP	ASTN2	c.2396+19946_2397-28458dup	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119524261_119547966dup	VUS	1 lab	55e56edbc8
4:100530048 MTTP G>T	4	100530048	100530048	G	T	MTTP	c.1683G>T	NM_000253.4	NP_000244.2:p.(Leu561=)	NC_000004.11:g.100530048G>T	(Likely) benign	1 lab	55e87b70e4
17:63149551 RGS9 C>T	17	63149551	63149551	C	T	RGS9	c.69C>T	NM_003835.4	NP_003826.2:p.(Leu23=)	NC_000017.10:g.63149551C>T	(Likely) benign	1 lab	55e9726748
5:133956616 SAR1B T>C	5	133956616	133956616	T	C	SAR1B	c.178+7A>G	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133956616T>C	(Likely) benign	1 lab	5607e3f528
9:20356525 MLLT3 Ref too long to show for this DEL>C	9	20356525	20362658	Ref too long to show for this DEL	C	MLLT3	c.1331+816_1432-1649del	NM_004529.4	NP_004520.2:p.?	NC_000009.11:g.20356526_20362658del	VUS	1 lab	55ea549206
4:656040 PDE6B T>TGCCAGAATCACCAGGGTTGTGCAG	4	656040	656067	T	TGCCAGAATCACCAGGGTTGTGCAG	PDE6B	c.1722+14_1722+37dup	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.656044_656067dup	(Likely) benign	1 lab	55eb35cf24
X:2271287 MISSING Ref too long to show for this DEL>A	X	2271287	2479952	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.2271288_2479952del	(Likely) pathogenic	1 lab	55eb785baf
16:1608088 IFT140 G>A	16	1608088	1608088	G	A	IFT140	c.2247C>T	NM_014714.4	NP_055529.2:p.(His749=)	NC_000016.9:g.1608088G>A	(Likely) benign	1 lab	55edb4e707
2:111382485 MISSING Ref too long to show for this DEL>T	2	111382485	113137975	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.111382486_113137975del	(Likely) pathogenic	1 lab	55efa61c0a
10:148205 MISSING Ref too long to show for this DEL>G	10	148205	668649	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.148206_668649del	(Likely) pathogenic	1 lab	55f0abd151
2:215674279 BARD1 C>G	2	215674279	215674279	C	G	BARD1	c.15G>C	NM_000465.4	NP_000456.2:p.(Arg5=)	NC_000002.11:g.215674279C>G	(Likely) benign	1 lab	55f6b4bd0b
15:80867405 ARNT2 G>A	15	80867405	80867405	G	A	ARNT2	c.1467G>A	NM_014862.4	NP_055677.3:p.(Gln489=)	NC_000015.9:g.80867405G>A	(Likely) benign	1 lab	55f8658510
17:76734220 CYTH1 Ref too long to show for this DEL>A	17	76734220	76767489	Ref too long to show for this DEL	A	CYTH1	c.22+10797_23-28407del	NM_004762.6	NP_004753.1:p.?	NC_000017.10:g.76734223_76767489del	VUS	1 lab	56050fd611
16:929700 LMF1 T>C	16	929700	929700	T	C	LMF1	c.368A>G	NM_001352018.2	NP_001338947.1:p.(His123Arg)	NC_000016.9:g.929700T>C	VUS	1 lab	56061f7a9c
1:161276553 MPZ G>T	1	161276553	161276553	G	T	MPZ	c.393C>A	NM_000530.8	NP_000521.2:p.(Asn131Lys)	NC_000001.10:g.161276553G>T	(Likely) pathogenic	1 lab	5608167dcc
1:215847788 USH2A C>T	1	215847788	215847788	C	T	USH2A	c.13465G>A	NM_206933.4	NP_996816.3:p.(Gly4489Ser)	NC_000001.10:g.215847788C>T	(Likely) pathogenic	1 lab	56084c3720
X:138871497 MISSING T>Alt too long to show for this DUP	X	138871497	139527453	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.138871499_139527453dup	VUS	1 lab	560c2750cf
20:10393399 MKKS G>GT	20	10393399	10393400	G	GT	MKKS	c.763dup	NM_018848.3	NP_061336.1:p.(Thr255AsnfsTer15)	NC_000020.10:g.10393400dup	(Likely) pathogenic	1 lab	560c4aa26a
16:83941719 MLYCD A>T	16	83941719	83941719	A	T	MLYCD	c.642-12A>T	NM_012213.3	NP_036345.2:p.?	NC_000016.9:g.83941719A>T	(Likely) benign	1 lab	560cf01645
5:64181391 CWC27 G>A	5	64181391	64181391	G	A	CWC27	c.1042+18G>A	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64181391G>A	(Likely) benign	1 lab	560d83f456
16:921338 LMF1 C>T	16	921338	921338	C	T	LMF1	c.502G>A	NM_001352018.2	NP_001338947.1:p.(Val168Ile)	NC_000016.9:g.921338C>T	(Likely) benign	1 lab	560eb825e1
12:49440055 KMT2D C>T	12	49440055	49440055	C	T	KMT2D	c.4571G>A	NM_003482.4	NP_003473.3:p.(Arg1524His)	NC_000012.11:g.49440055C>T	VUS	1 lab	560efdb5a0
2:171843811 MISSING T>Alt too long to show for this DUP	2	171843811	171853198	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.171843812_171853198dup	VUS	1 lab	560f96a46e
2:241702174 KIF1A G>A	2	241702174	241702174	G	A	KIF1A	c.2078C>T	NM_001244008.2	NP_001230937.1:p.(Pro693Leu)	NC_000002.11:g.241702174G>A	VUS	1 lab	5611f26a48
6:44272790 AARS2 C>A	6	44272790	44272790	C	A	AARS2	c.1579+1G>T	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44272790C>A	(Likely) pathogenic	1 lab	5617220d3d
2:44099127 ABCG8 G>T	2	44099127	44099127	G	T	ABCG8	c.977G>T	NM_022437.3	NP_071882.1:p.(Ser326Ile)	NC_000002.11:g.44099127G>T	VUS	1 lab	56182b9112
7:151372718 PRKAG2 C>G	7	151372718	151372718	C	G	PRKAG2	c.472G>C	NM_016203.4	NP_057287.2:p.(Gly158Arg)	NC_000007.13:g.151372718C>G	VUS	1 lab	561ac1fa53
X:38491338 MISSING G>Alt too long to show for this DUP	X	38491338	38623695	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.38491339_38623695dup	VUS	1 lab	561b00296c
19:1207179 STK11 C>T	19	1207179	1207179	C	T	STK11	c.267C>T	NM_000455.5	NP_000446.1:p.(Pro89=)	NC_000019.9:g.1207179C>T	(Likely) benign	1 lab	561b5cc1e4
16:67974303 LCAT A>T	16	67974303	67974303	A	T	LCAT	c.827T>A	NM_000229.2	NP_000220.1:p.(Met276Lys)	NC_000016.9:g.67974303A>T	(Likely) pathogenic	1 lab	561e78d38b
18:34232610 FHOD3 C>T	18	34232610	34232610	C	T	FHOD3	c.1364C>T	NM_001281740.3	NP_001268669.1:p.(Ser455Leu)	NC_000018.9:g.34232610C>T	(Likely) benign	1 lab	5620a8733e
5:33988484 AMACR A>G	5	33988484	33988484	A	G	AMACR	c.*714T>C	NM_014324.6	NP_055139.4:p.?	NC_000005.9:g.33988484A>G	(Likely) benign	1 lab	5620ca235a
12:50498449 GPD1 T>C	12	50498449	50498449	T	C	GPD1	c.134T>C	NM_005276.4	NP_005267.2:p.(Ile45Thr)	NC_000012.11:g.50498449T>C	(Likely) benign	1 lab	5623ca086d
7:158208523 MISSING A>Alt too long to show for this DUP	7	158208523	158665794	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.158208526_158665794dup	VUS	1 lab	5625b1bbea
22:22162017 MAPK1 G>A	22	22162017	22162017	G	A	MAPK1	c.238C>T	NM_002745.5	NP_002736.3:p.(His80Tyr)	NC_000022.10:g.22162017G>A	VUS	1 lab	5626f6945e
16:919901 LMF1 C>T	16	919901	919901	C	T	LMF1	c.1398G>A	NM_022773.4	NP_073610.2:p.(Met466Ile)	NC_000016.9:g.919901C>T	VUS	1 lab	562887a099
20:10389389 MKKS CAT>C	20	10389389	10389391	CAT	C	MKKS	c.1046_1047del	NM_170784.3	NP_740754.1:p.(Asp349GlyfsTer17)	NC_000020.10:g.10389390_10389391del	(Likely) pathogenic	1 lab	562aa5127c
2:179413031 TTN T>C	2	179413031	179413031	T	C	TTN	c.93322A>G	NM_001267550.2	NP_001254479.2:p.(Ile31108Val)	NC_000002.11:g.179413031T>C	VUS	1 lab	562b353373
6:79668328 PHIP C>T	6	79668328	79668328	C	T	PHIP	c.3657-11G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79668328C>T	(Likely) benign	1 lab	562f583e5a
7:128493686 FLNC G>T	7	128493686	128493686	G	T	FLNC	c.6361+11G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128493686G>T	(Likely) benign	1 lab	563101a827
1:67145379 SGIP1 C>CA	1	67145379	67145385	C	CA	SGIP1	c.776dup	NM_001350217.2	NP_001337146.1:p.(Asn259LysfsTer20)	NC_000001.10:g.67145385dup	VUS	1 lab	5632faa6d5
2:233345861 ECEL1 G>A	2	233345861	233345861	G	A	ECEL1	c.1995C>T	NM_004826.4	NP_004817.2:p.(Asn665=)	NC_000002.11:g.233345861G>A	(Likely) benign	1 lab	56330cf8cf
2:176982167 HOXD10 C>G	2	176982167	176982167	C	G	HOXD10	c.606C>G	NM_002148.4	NP_002139.2:p.(Asn202Lys)	NC_000002.11:g.176982167C>G	(Likely) benign	1 lab	5634567671
6:75893013 COL12A1 G>T	6	75893013	75893013	G	T	COL12A1	c.1644C>A	NM_004370.6	NP_004361.3:p.(Ile548=)	NC_000006.11:g.75893013G>T	(Likely) benign	1 lab	5635954f91
6:129470157 LAMA2 G>A	6	129470157	129470157	G	A	LAMA2	c.943G>A	NM_000426.4	NP_000417.3:p.(Gly315Ser)	NC_000006.11:g.129470157G>A	VUS	1 lab	5637789e6a
14:79602687 NRXN3 Ref too long to show for this DEL>C	14	79602687	79615562	Ref too long to show for this DEL	C	NRXN3	c.3262+148204_3262+161078del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79602688_79615562del	VUS	1 lab	5639e9818c
17:74449206 UBE2O G>A	17	74449206	74449206	G	A	UBE2O	c.18C>T	NM_022066.4	NP_071349.3:p.(Ala6=)	NC_000017.10:g.74449206G>A	(Likely) benign	1 lab	563c4f24b6
7:33674793 BBS9 C>T	7	33674793	33674793	C	T	BBS9	c.2637C>T	NM_001348041.4	NP_001334970.1:p.(Pro879=)	NC_000007.13:g.33674793C>T	(Likely) benign	1 lab	563eb8be1e
4:100521762 MTTP G>A	4	100521762	100521762	G	A	MTTP	c.1108G>A	NM_000253.4	NP_000244.2:p.(Asp370Asn)	NC_000004.11:g.100521762G>A	VUS	1 lab	563fd9a4c7
19:11221461 LDLR G>A	19	11221461	11221461	G	A	LDLR	c.1060+14G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221461G>A	VUS	1 lab	564153630b
2:44079671 ABCG8 C>T	2	44079671	44079671	C	T	ABCG8	c.694+46C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079671C>T	(Likely) benign	1 lab	5643069b35
1:63064374 ANGPTL3 T>C	1	63064374	63064374	T	C	ANGPTL3	c.503T>C	NM_014495.4	NP_055310.1:p.(Val168Ala)	NC_000001.10:g.63064374T>C	(Likely) pathogenic	1 lab	5644b1a619
6:166634092 MISSING T>Alt too long to show for this DUP	6	166634092	166736336	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.166634093_166736336dup	VUS	1 lab	5645708278
11:299449 IFITM5 C>T	11	299449	299449	C	T	IFITM5	c.42G>A	NM_001025295.3	NP_001020466.1:p.(Thr14=)	NC_000011.9:g.299449C>T	(Likely) benign	1 lab	5645abe12c
5:180057234 FLT4 C>T	5	180057234	180057234	C	T	FLT4	c.504G>A	NM_182925.5	NP_891555.2:p.(Thr168=)	NC_000005.9:g.180057234C>T	(Likely) benign	1 lab	5648359bb3
15:33022924 GREM1 G>A	15	33022924	33022924	G	A	GREM1	c.33G>A	NM_013372.7	NP_037504.1:p.(Leu11=)	NC_000015.9:g.33022924G>A	(Likely) benign	1 lab	564d621639
2:220466006 STK11IP A>G	2	220466006	220466006	A	G	STK11IP	c.111A>G	NM_052902.4	NP_443134.3:p.(Thr37=)	NC_000002.11:g.220466006A>G	(Likely) benign	1 lab	564e5fc537
21:47410341 COL6A1 CTGGGGGGAGATAGGATGGA>C	21	47410341	47410360	CTGGGGGGAGATAGGATGGA	C	COL6A1	c.1002+6_1002+24del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410342_47410360del	(Likely) benign	1 lab	564ee41e78
6:7585145 DSP C>T	6	7585145	7585145	C	T	DSP	c.7650C>T	NM_004415.4	NP_004406.2:p.(Gly2550=)	NC_000006.11:g.7585145C>T	(Likely) benign	1 lab	564f08974a
1:94514521 ABCA4 A>C	1	94514521	94514521	A	C	ABCA4	c.2654-8T>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94514521A>C	(Likely) benign	1 lab	56530e115e
10:79769417 POLR3A G>A	10	79769417	79769417	G	A	POLR3A	c.1787C>T	NM_007055.4	NP_008986.2:p.(Thr596Met)	NC_000010.10:g.79769417G>A	VUS	1 lab	5654415cc9
18:2740798 SMCHD1 A>T	18	2740798	2740798	A	T	SMCHD1	c.3612A>T	NM_015295.3	NP_056110.2:p.(Ser1204=)	NC_000018.9:g.2740798A>T	(Likely) benign	1 lab	565842623c
15:63332056 TPM1 Ref too long to show for this DEL>T	15	63332056	63363832	Ref too long to show for this DEL	T	TPM1				NC_000015.9:g.63332059_63363832del	VUS	1 lab	565b524101
3:125720968 MISSING Ref too long to show for this DEL>T	3	125720968	125726048	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.125720969_125726048del	VUS	1 lab	565dd30cdf
8:59508211 NSMAF C>T	8	59508211	59508211	C	T	NSMAF	c.1800G>A	NM_003580.4	NP_003571.2:p.(Glu600=)	NC_000008.10:g.59508211C>T	(Likely) benign	1 lab	5661e921a7
13:100982841 PCCA C>T	13	100982841	100982841	C	T	PCCA	c.1456C>T	NM_000282.4	NP_000273.2:p.(Arg486Ter)	NC_000013.10:g.100982841C>T	(Likely) pathogenic	1 lab	5662e944ef
10:92678744 ANKRD1 A>ATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATAT	(Likely) benign	1 lab	56637e7eb0
3:138859882 MISSING Ref too long to show for this DEL>A	3	138859882	145336442	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.138859885_145336442del	(Likely) pathogenic	1 lab	566989cbb4
7:138524861 KIAA1549 A>C	7	138524861	138524861	A	C	KIAA1549	c.5598+17T>G	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138524861A>C	(Likely) benign	1 lab	5671059018
2:179307979 PRKRA GTAAGAA>G	2	179307979	179307985	GTAAGAA	G	PRKRA	c.481+9_481+14del	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179307980_179307985del	(Likely) benign	1 lab	567127176d
5:140558313 PCDHB8 T>TCC	5	140558313	140558314	T	TCC	PCDHB8	c.698_699insCC	NM_019120.5	NP_061993.3:p.(Val234LeufsTer26)	NC_000005.9:g.140558313_140558314insCC	(Likely) benign	1 lab	5671aa4c17
3:53684868 CACNA1D G>A	3	53684868	53684868	G	A	CACNA1D	c.546G>A	NM_000720.4	NP_000711.1:p.(Ala182=)	NC_000003.11:g.53684868G>A	(Likely) benign	1 lab	567382ab24
2:179622662 TTN A>G	2	179622662	179622662	A	G	TTN	c.10304-19T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179622662A>G	(Likely) benign	1 lab	567f26fb02
X:118603869 SLC25A5 G>A	X	118603869	118603869	G	A	SLC25A5	c.357G>A	NM_001152.5	NP_001143.2:p.(Ser119=)	NC_000023.10:g.118603869G>A	(Likely) benign	1 lab	56809c9c5a
16:68849641 CDH1 C>T	16	68849641	68849641	C	T	CDH1	c.1544C>T	NM_004360.5	NP_004351.1:p.(Thr515Ile)	NC_000016.9:g.68849641C>T	VUS	1 lab	56821355b0
16:15509405 MISSING T>Alt too long to show for this DUP	16	15509405	16327015	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15509407_16327015dup	VUS	1 lab	568601747e
11:68682434 IGHMBP2 G>A	11	68682434	68682434	G	A	IGHMBP2	c.855G>A	NM_002180.3	NP_002171.2:p.(Ala285=)	NC_000011.9:g.68682434G>A	(Likely) benign	1 lab	5686a1c193
20:32031111 SNTA1 G>C	20	32031111	32031111	G	C	SNTA1	c.310+6C>G	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32031111G>C	(Likely) benign	1 lab	5687f9f3c5
6:16144045 MYLIP G>T	6	16144045	16144045	G	T	MYLIP	c.778G>T	NM_013262.4	NP_037394.2:p.(Ala260Ser)	NC_000006.11:g.16144045G>T	VUS	1 lab	5689628e4d
1:26385066 TRIM63 A>G	1	26385066	26385066	A	G	TRIM63	c.646T>C	NM_032588.4	NP_115977.2:p.(Leu216=)	NC_000001.10:g.26385066A>G	(Likely) benign	1 lab	568e741fd2
11:89018051 TYR T>C	11	89018051	89018051	T	C	TYR	c.1295T>C	NM_000372.5	NP_000363.1:p.(Leu432Pro)	NC_000011.9:g.89018051T>C	VUS	1 lab	568f1bb348
9:107548602 ABCA1 G>A	9	107548602	107548602	G	A	ABCA1	c.6378C>T	NM_005502.4	NP_005493.2:p.(Gly2126=)	NC_000009.11:g.107548602G>A	(Likely) benign	1 lab	5690d2d6a5
17:48431759 XYLT2 C>T	17	48431759	48431759	C	T	XYLT2	c.629-10C>T	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48431759C>T	(Likely) benign	1 lab	56989e6bcb
15:85400816 ALPK3 C>T	15	85400816	85400816	C	T	ALPK3	c.2847C>T	NM_020778.5	NP_065829.4:p.(Pro949=)	NC_000015.9:g.85400816C>T	(Likely) benign	1 lab	569bc427d7
2:179613822 TTN A>G	2	179613822	179613822	A	G	TTN	c.10360+4029T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179613822A>G	(Likely) benign	1 lab	569dc85fc1
17:1584145 PRPF8 C>T	17	1584145	1584145	C	T	PRPF8	c.993-20G>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1584145C>T	VUS	1 lab	57af676dae
X:70444173 GJB1 G>GT	X	70444173	70444174	G	GT	GJB1	c.617dup	NM_000166.6	NP_000157.1:p.(Ala207GlyfsTer36)	NC_000023.10:g.70444174dup	(Likely) pathogenic	1 lab	56a0ae022d
X:70443583 GJB1 T>G	X	70443583	70443583	T	G	GJB1	c.26T>G	NM_000166.6	NP_000157.1:p.(Leu9Trp)	NC_000023.10:g.70443583T>G	(Likely) pathogenic	1 lab	56a20b02a6
10:55587245 PCDH15 T>A	10	55587245	55587245	T	A	PCDH15	c.4290A>T	NM_001142771.2	NP_001136243.1:p.(Ala1430=)	NC_000010.10:g.55587245T>A	(Likely) benign	1 lab	56a4be3906
13:67804206 MISSING Ref too long to show for this DEL>G	13	67804206	67913707	Ref too long to show for this DEL	G	MISSING				NC_000013.10:g.67804209_67913707del	VUS	1 lab	56a645045e
8:19818217 LPL C>A	8	19818217	19818217	C	A	LPL	c.1140-195C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818217C>A	(Likely) benign	1 lab	56a960515b
2:179442499 TTN G>A	2	179442499	179442499	G	A	TTN	c.60950C>T	NM_133378.4	NP_596869.4:p.(Ser20317Leu)	NC_000002.11:g.179442499G>A	VUS	1 lab	56ab5cad4d
8:19818572 LPL A>C	8	19818572	19818572	A	C	LPL	c.1300A>C	NM_000237.3	NP_000228.1:p.(Lys434Gln)	NC_000008.10:g.19818572A>C	VUS	1 lab	56add4c05b
2:179428371 TTN G>A	2	179428371	179428371	G	A	TTN	c.82488C>T	NM_001267550.2	NP_001254479.2:p.(Asp27496=)	NC_000002.11:g.179428371G>A	(Likely) benign	1 lab	56b26df61b
17:33434123 RAD51D CT>C	17	33434123	33434124	CT	C	RAD51D	c.363del	NM_002878.4	NP_002869.3:p.(Ala122GlnfsTer14)	NC_000017.10:g.33434124del	(Likely) pathogenic	1 lab	56b3c9e732
8:1853769 ARHGEF10 A>G	8	1853769	1853769	A	G	ARHGEF10	c.1926A>G	NM_001308153.2	NP_001295082.1:p.(Arg642=)	NC_000008.10:g.1853769A>G	(Likely) benign	1 lab	56b5d012fc
2:26951127 KCNK3 C>T	2	26951127	26951127	C	T	KCNK3	c.876C>T	NM_002246.3	NP_002237.1:p.(Gly292=)	NC_000002.11:g.26951127C>T	(Likely) benign	1 lab	56bec5f8db
12:102055021 MYBPC1 C>T	12	102055021	102055021	C	T	MYBPC1	c.2013C>T	NM_002465.4	NP_002456.2:p.(Asp671=)	NC_000012.11:g.102055021C>T	(Likely) benign	1 lab	56c0c74c9d
X:70444095 GJB1 T>C	X	70444095	70444095	T	C	GJB1	c.538T>C	NM_000166.6	NP_000157.1:p.(Phe180Leu)	NC_000023.10:g.70444095T>C	(Likely) pathogenic	1 lab	56c4f1cb35
2:21260813 APOB G>A	2	21260813	21260813	G	A	APOB	c.537+17C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260813G>A	(Likely) benign	1 lab	56c7c5f0fd
12:125284749 SCARB1 G>T	12	125284749	125284749	G	T	SCARB1	c.1049C>A	NM_001367981.1	NP_001354910.1:p.(Ala350Asp)	NC_000012.11:g.125284749G>T	(Likely) pathogenic	1 lab	56ca26df88
2:179434178 TTN T>C	2	179434178	179434178	T	C	TTN	c.76681A>G	NM_001267550.2	NP_001254479.2:p.(Ser25561Gly)	NC_000002.11:g.179434178T>C	VUS	1 lab	56cafe4d7e
2:21233589 APOB C>G	2	21233589	21233589	C	G	APOB	c.6151G>C	NM_000384.3	NP_000375.3:p.(Glu2051Gln)	NC_000002.11:g.21233589C>G	VUS	1 lab	56ce2fe858
17:39975466 FKBP10 A>G	17	39975466	39975466	A	G	FKBP10	c.732A>G	NM_021939.4	NP_068758.3:p.(Thr244=)	NC_000017.10:g.39975466A>G	(Likely) benign	1 lab	56d20e12b0
10:75830748 VCL A>C	10	75830748	75830748	A	C	VCL	c.406A>C	NM_014000.3	NP_054706.1:p.(Arg136=)	NC_000010.10:g.75830748A>C	(Likely) benign	1 lab	56d35d2e08
13:100634807 ZIC2 A>G	13	100634807	100634807	A	G	ZIC2	c.489A>G	NM_007129.5	NP_009060.2:p.(Pro163=)	NC_000013.10:g.100634807A>G	(Likely) benign	1 lab	56d870edbe
10:48386007 RBP3 T>C	10	48386007	48386007	T	C	RBP3	c.3085A>G	NM_002900.3	NP_002891.1:p.(Ile1029Val)	NC_000010.10:g.48386007T>C	VUS	1 lab	56d9dce00c
17:41244418 BRCA1 T>C	17	41244418	41244418	T	C	BRCA1	c.3130A>G	NM_007294.4	NP_009225.1:p.(Ile1044Val)	NC_000017.10:g.41244418T>C	(Likely) benign	1 lab	56da1e124a
11:117222548 CEP164 C>T	11	117222548	117222548	C	T	CEP164	c.237C>T	NM_014956.5	NP_055771.4:p.(Asn79=)	NC_000011.9:g.117222548C>T	(Likely) benign	1 lab	56dc06d8ea
7:150655425 KCNH2 T>C	7	150655425	150655425	T	C	KCNH2	c.638A>G	NM_000238.4	NP_000229.1:p.(Asp213Gly)	NC_000007.13:g.150655425T>C	VUS	1 lab	56dc4c3645
16:304447 MISSING A>Alt too long to show for this DUP	16	304447	540152	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.304448_540152dup	(Likely) pathogenic	1 lab	56dda001ea
2:21246470 APOB A>T	2	21246470	21246470	A	T	APOB	c.2531T>A	NM_000384.3	NP_000375.3:p.(Leu844Ter)	NC_000002.11:g.21246470A>T	(Likely) pathogenic	1 lab	56e33efb5e
12:21331901 SLCO1B1 C>T	12	21331901	21331901	C	T	SLCO1B1	c.674C>T	NM_006446.5	NP_006437.3:p.(Thr225Ile)	NC_000012.11:g.21331901C>T	(Likely) benign	1 lab	56e5cd3810
7:128491131 FLNC G>T	7	128491131	128491131	G	T	FLNC	c.5539+134G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491131G>T	(Likely) benign	1 lab	56e7fe2d2c
16:57003846 CETP C>A	16	57003846	57003846	C	A	CETP	c.460C>A	NM_000078.3	NP_000069.2:p.(Arg154=)	NC_000016.9:g.57003846C>A	(Likely) benign	1 lab	56eca2eb06
11:47369530 MYBPC3 G>C	11	47369530	47369530	G	C	MYBPC3	c.773-74C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369530G>C	(Likely) benign	1 lab	56ee1b80d0
1:3328409 PRDM16 C>T	1	3328409	3328409	C	T	PRDM16	c.1648C>T	NM_022114.4	NP_071397.3:p.(Pro550Ser)	NC_000001.10:g.3328409C>T	VUS	1 lab	56efd7b42f
6:124755541 NKAIN2 Ref too long to show for this DEL>A	6	124755541	124796374	Ref too long to show for this DEL	A	NKAIN2	c.273+79050_273+119881del	NM_001040214.3	NP_001035304.1:p.?	NC_000006.11:g.124755543_124796374del	VUS	1 lab	56f1cf70ff
2:21251373 APOB G>T	2	21251373	21251373	G	T	APOB	c.1655C>A	NM_000384.3	NP_000375.3:p.(Ala552Asp)	NC_000002.11:g.21251373G>T	VUS	1 lab	56f515556d
16:11645629 LITAF G>A	16	11645629	11645629	G	A	LITAF	c.409C>T	NM_001136473.1	NP_001129945.1:p.(Arg137Cys)	NC_000016.9:g.11645629G>A	(Likely) benign	1 lab	56f653a469
2:44071688 ABCG8 C>T	2	44071688	44071688	C	T	ABCG8	c.106C>T	NM_022437.3	NP_071882.1:p.(Leu36=)	NC_000002.11:g.44071688C>T	(Likely) benign	1 lab	56fb0728c9
2:179477754 TTN T>C	2	179477754	179477754	T	C	TTN	c.49694A>G	NM_001267550.2	NP_001254479.2:p.(Lys16565Arg)	NC_000002.11:g.179477754T>C	VUS	1 lab	56fb1ee28a
3:101023169 IMPG2 G>A	3	101023169	101023169	G	A	IMPG2	c.335-13C>T	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.101023169G>A	(Likely) benign	1 lab	56fb2f4e7a
17:15162501 PMP22 C>T	17	15162501	15162501	C	T	PMP22	c.88G>A	NM_000304.4	NP_000295.1:p.(Val30Met)	NC_000017.10:g.15162501C>T	(Likely) pathogenic	1 lab	56fcfb8024
20:10627606 JAG1 C>T	20	10627606	10627606	C	T	JAG1	c.1866G>A	NM_000214.3	NP_000205.1:p.(Thr622=)	NC_000020.10:g.10627606C>T	(Likely) benign	1 lab	56fe60152e
X:77001791 ATRX A>Alt too long to show for this DUP	X	77001791	77002185	A	Alt too long to show for this DUP	ATRX	c.21-29465_21-29072dup	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.77001792_77002185dup	VUS	1 lab	5702805440
1:40773925 COL9A2 G>A	1	40773925	40773925	G	A	COL9A2	c.847-8C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40773925G>A	(Likely) benign	1 lab	5704a2708a
4:190876256 FRG1 C>T	4	190876256	190876256	C	T	FRG1	c.382C>T	NM_004477.3	NP_004468.1:p.(Arg128Cys)	NC_000004.11:g.190876256C>T	(Likely) benign	1 lab	570893d4b8
4:22389468 ADGRA3 T>G	4	22389468	22389468	T	G	ADGRA3	c.3826A>C	NM_145290.4	NP_660333.2:p.(Asn1276His)	NC_000004.11:g.22389468T>G	(Likely) benign	1 lab	570c0bda59
12:50500574 GPD1 C>T	12	50500574	50500574	C	T	GPD1	c.500-14C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500574C>T	(Likely) benign	1 lab	570d2d80cd
2:189859029 COL3A1 A>G	2	189859029	189859029	A	G	COL3A1	c.1264A>G	NM_000090.4	NP_000081.2:p.(Asn422Asp)	NC_000002.11:g.189859029A>G	VUS	1 lab	570e75aa9b
7:16676082 ANKMY2 TA>T	7	16676082	16676096	TA	T	ANKMY2	c.68-3del	NM_020319.3	NP_064715.1:p.?	NC_000007.13:g.16676096del	(Likely) benign	1 lab	5710364c9e
14:23859532 MYH6 C>T	14	23859532	23859532	C	T	MYH6	c.3466G>A	NM_002471.4	NP_002462.2:p.(Gly1156Ser)	NC_000014.8:g.23859532C>T	VUS	1 lab	57108c835b
14:64522674 SYNE2 G>C	14	64522674	64522674	G	C	SYNE2	c.9757G>C	NM_182914.3	NP_878918.2:p.(Asp3253His)	NC_000014.8:g.64522674G>C	(Likely) benign	1 lab	5710d9f239
2:179486423 TTN C>G	2	179486423	179486423	C	G	TTN	c.45128G>C	NM_001267550.2	NP_001254479.2:p.(Ser15043Thr)	NC_000002.11:g.179486423C>G	VUS	1 lab	5711a7b2aa
10:94393483 KIF11 G>A	10	94393483	94393483	G	A	KIF11	c.1806G>A	NM_004523.4	NP_004514.2:p.(Gln602=)	NC_000010.10:g.94393483G>A	(Likely) benign	1 lab	571245a00f
3:195452595 MUC20 A>C	3	195452595	195452595	A	C	MUC20	c.1121A>C	NM_001282506.2	NP_001269435.1:p.(His374Pro)	NC_000003.11:g.195452595A>C	(Likely) benign	1 lab	5714b24793
18:10979646 PIEZO2 C>T	18	10979646	10979646	C	T	PIEZO2	c.173G>A	NM_022068.4	NP_071351.2:p.(Arg58Gln)	NC_000018.9:g.10979646C>T	VUS	1 lab	571a96f56c
11:1016987 MUC6 G>A	11	1016987	1016987	G	A	MUC6	c.5814C>T	NM_005961.3	NP_005952.2:p.(Ile1938=)	NC_000011.9:g.1016987G>A	(Likely) benign	1 lab	571b2e4191
15:48797234 FBN1 G>A	15	48797234	48797234	G	A	FBN1	c.1948C>T	NM_000138.5	NP_000129.3:p.(Arg650Cys)	NC_000015.9:g.48797234G>A	(Likely) pathogenic	1 lab	571b322f7a
12:88490769 CEP290 T>C	12	88490769	88490769	T	C	CEP290	c.2999A>G	NM_025114.4	NP_079390.3:p.(Asn1000Ser)	NC_000012.11:g.88490769T>C	(Likely) benign	1 lab	571d3ba3d5
17:41053029 G6PC1 C>T	17	41053029	41053029	C	T	G6PC1	c.136C>T	NM_000151.4	NP_000142.2:p.(Leu46Phe)	NC_000017.10:g.41053029C>T	(Likely) benign	1 lab	571d527833
3:145806784 PLOD2 A>G	3	145806784	145806784	A	G	PLOD2	c.880-286T>C	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145806784A>G	(Likely) benign	1 lab	571dfa0b93
19:55668002 TNNI3 T>A	19	55668002	55668002	T	A	TNNI3	c.119A>T	NM_000363.5	NP_000354.4:p.(Lys40Met)	NC_000019.9:g.55668002T>A	VUS	1 lab	571ed3e6c1
19:11224127 LDLR T>A	19	11224127	11224127	T	A	LDLR	c.1358+2T>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224127T>A	(Likely) pathogenic	1 lab	5720a674ee
3:129695930 TRH G>A	3	129695930	129695930	G	A	TRH	c.600G>A	NM_007117.5	NP_009048.1:p.(Gln200=)	NC_000003.11:g.129695930G>A	(Likely) benign	1 lab	5724894442
3:53835170 CACNA1D G>A	3	53835170	53835170	G	A	CACNA1D	c.5186G>A	NM_000720.4	NP_000711.1:p.(Arg1729His)	NC_000003.11:g.53835170G>A	VUS	1 lab	57259460fe
1:201331117 TNNT2 G>A	1	201331117	201331117	G	A	TNNT2	c.613C>T	NM_001276347.2	NP_001263276.1:p.(Arg205Trp)	NC_000001.10:g.201331117G>A	(Likely) pathogenic	1 lab	5725bdd00b
2:220283540 DES T>C	2	220283540	220283540	T	C	DES	c.356T>C	NM_001927.4	NP_001918.3:p.(Phe119Ser)	NC_000002.11:g.220283540T>C	VUS	1 lab	5728237b46
2:179447184 TTN C>T	2	179447184	179447184	C	T	TTN	c.65999G>A	NM_001267550.2	NP_001254479.2:p.(Arg22000Lys)	NC_000002.11:g.179447184C>T	VUS	1 lab	572938da6b
1:63064415 ANGPTL3 G>A	1	63064415	63064415	G	A	ANGPTL3	c.544G>A	NM_014495.4	NP_055310.1:p.(Val182Met)	NC_000001.10:g.63064415G>A	VUS	1 lab	57295349c2
16:15819019 MYH11 C>A	16	15819019	15819019	C	A	MYH11	c.3880-170G>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15819019C>A	(Likely) benign	1 lab	572ec69737
19:11230782 LDLR G>T	19	11230782	11230782	G	T	LDLR	c.1860G>T	NM_000527.5	NP_000518.1:p.(Trp620Cys)	NC_000019.9:g.11230782G>T	(Likely) pathogenic	1 lab	572f1d0684
8:22054197 BMP1 T>C	8	22054197	22054197	T	C	BMP1	c.1770T>C	NM_006129.5	NP_006120.1:p.(Ala590=)	NC_000008.10:g.22054197T>C	(Likely) benign	1 lab	572f9702b6
18:25572606 CDH2 G>A	18	25572606	25572606	G	A	CDH2	c.1344+13C>T	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25572606G>A	(Likely) benign	1 lab	572fc57c6c
10:75849970 VCL C>A	10	75849970	75849970	C	A	VCL	c.1352+14C>A	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75849970C>A	(Likely) benign	1 lab	5731a4b346
18:47101933 LIPG G>A	18	47101933	47101933	G	A	LIPG	c.766G>A	NM_006033.4	NP_006024.1:p.(Asp256Asn)	NC_000018.9:g.47101933G>A	VUS	1 lab	5739496556
10:48414216 GDF2 C>T	10	48414216	48414216	C	T	GDF2	c.652G>A	NM_016204.4	NP_057288.1:p.(Asp218Asn)	NC_000010.10:g.48414216C>T	(Likely) benign	1 lab	5739896e9a
14:78036761 SPTLC2 G>A	14	78036761	78036761	G	A	SPTLC2	c.722C>T	NM_004863.4	NP_004854.1:p.(Thr241Met)	NC_000014.8:g.78036761G>A	VUS	1 lab	586fe9fd68
8:97891153 CPQ Ref too long to show for this DEL>A	8	97891153	97914606	Ref too long to show for this DEL	A	CPQ	c.642-872_849+22373del	NM_016134.4	NP_057218.1:p.?	NC_000008.10:g.97891154_97914606del	VUS	1 lab	573dc3a665
9:130981462 DNM1 G>A	9	130981462	130981462	G	A	DNM1	c.520G>A	NM_001288738.2	NP_001275667.1:p.(Val174Met)	NC_000009.11:g.130981462G>A	VUS	1 lab	573f170c01
7:91630284 AKAP9 A>G	7	91630284	91630284	A	G	AKAP9	c.1053A>G	NM_005751.5	NP_005742.4:p.(Lys351=)	NC_000007.13:g.91630284A>G	(Likely) benign	1 lab	573f8875ea
9:97522683 AOPEP C>G	9	97522683	97522683	C	G	AOPEP	c.618C>G	NM_001193329.3	NP_001180258.1:p.(Tyr206Ter)	NC_000009.11:g.97522683C>G	(Likely) pathogenic	1 lab	573fe3bab6
12:21331179 SLCO1B1 G>A	12	21331179	21331179	G	A	SLCO1B1	c.482-331G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331179G>A	(Likely) benign	1 lab	5744fbe276
4:15985950 PROM1 G>T	4	15985950	15985950	G	T	PROM1	c.2309C>A	NM_006017.3	NP_006008.1:p.(Pro770His)	NC_000004.11:g.15985950G>T	(Likely) benign	1 lab	574648ddce
11:47353827 MYBPC3 A>G	11	47353827	47353827	A	G	MYBPC3	c.3628-18T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353827A>G	(Likely) benign	1 lab	57476f82d9
10:129903332 MKI67 G>A	10	129903332	129903332	G	A	MKI67	c.6772C>T	NM_002417.5	NP_002408.3:p.(Arg2258Ter)	NC_000010.10:g.129903332G>A	VUS	1 lab	5749418e68
1:161277100 MPZ T>C	1	161277100	161277100	T	C	MPZ	c.182A>G	NM_000530.8	NP_000521.2:p.(Asp61Gly)	NC_000001.10:g.161277100T>C	(Likely) pathogenic	1 lab	574977227d
2:71738987 DYSF C>T	2	71738987	71738987	C	T	DYSF	c.393C>T	NM_001130981.2	NP_001124453.1:p.(Pro131=)	NC_000002.11:g.71738987C>T	(Likely) benign	1 lab	574a1c9d34
2:29416647 ALK GCTC>G	2	29416647	29416657	GCTC	G	ALK	c.4303_4305del	NM_004304.5	NP_004295.2:p.(Glu1435del)	NC_000002.11:g.29416655_29416657del	(Likely) benign	1 lab	574a7e4605
2:71796968 DYSF C>T	2	71796968	71796968	C	T	DYSF	c.2880C>T	NM_001130981.2	NP_001124453.1:p.(Asp960=)	NC_000002.11:g.71796968C>T	(Likely) benign	1 lab	574b263945
7:151262446 PRKAG2 T>C	7	151262446	151262446	T	C	PRKAG2	c.1423A>G	NM_016203.4	NP_057287.2:p.(Lys475Glu)	NC_000007.13:g.151262446T>C	(Likely) pathogenic	1 lab	574d42b3e7
9:139302015 ENTR1 TAAA>T	9	139302015	139302037	TAAA	T	ENTR1	c.403-5_403-3del	NM_001039707.2	NP_001034796.1:p.?	NC_000009.11:g.139302035_139302037del	(Likely) benign	1 lab	5750987295
3:58118555 FLNB G>A	3	58118555	58118555	G	A	FLNB	c.4504G>A	NM_001164317.2	NP_001157789.1:p.(Val1502Met)	NC_000003.11:g.58118555G>A	(Likely) benign	1 lab	5750a13463
1:21902490 ALPL G>A	1	21902490	21902490	G	A	ALPL	c.1189+73G>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21902490G>A	(Likely) benign	1 lab	57512943e5
2:21226252 APOB A>G	2	21226252	21226252	A	G	APOB	c.12088-46T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226252A>G	(Likely) benign	1 lab	5752754f92
19:1220379 STK11 T>C	19	1220379	1220379	T	C	STK11	c.472T>C	NM_000455.5	NP_000446.1:p.(Cys158Arg)	NC_000019.9:g.1220379T>C	(Likely) benign	1 lab	57556120ef
11:118037780 SCN2B G>A	11	118037780	118037780	G	A	SCN2B	c.470C>T	NM_004588.5	NP_004579.1:p.(Thr157Met)	NC_000011.9:g.118037780G>A	VUS	1 lab	575700b833
5:180048554 FLT4 G>A	5	180048554	180048554	G	A	FLT4	c.2008C>T	NM_182925.5	NP_891555.2:p.(Leu670=)	NC_000005.9:g.180048554G>A	(Likely) benign	1 lab	5757a06d25
15:101257302 MISSING Ref too long to show for this DEL>A	15	101257302	102384892	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.101257304_102384892del	(Likely) pathogenic	1 lab	575a09bd56
9:139410452 NOTCH1 G>C	9	139410452	139410452	G	C	NOTCH1	c.1650C>G	NM_017617.5	NP_060087.3:p.(Tyr550Ter)	NC_000009.11:g.139410452G>C	(Likely) pathogenic	1 lab	575ad0b41a
16:921256 LMF1 A>G	16	921256	921256	A	G	LMF1	c.584T>C	NM_001352018.2	NP_001338947.1:p.(Leu195Pro)	NC_000016.9:g.921256A>G	VUS	1 lab	575ad656fd
2:73718378 MISSING A>Alt too long to show for this DUP	2	73718378	74040301	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.73718381_74040301dup	VUS	1 lab	57601f31fa
8:144294674 MISSING G>A	8	144294674	144294674	G	A	MISSING				NC_000008.10:g.144294674G>A	(Likely) benign	1 lab	5762d7d435
X:70443817 GJB1 C>T	X	70443817	70443817	C	T	GJB1	c.260C>T	NM_000166.6	NP_000157.1:p.(Pro87Leu)	NC_000023.10:g.70443817C>T	(Likely) pathogenic	1 lab	57632a6944
16:88500657 ZNF469 A>G	16	88500657	88500657	A	G	ZNF469	c.6779A>G	NM_001367624.2	NP_001354553.1:p.(Lys2260Arg)	NC_000016.9:g.88500657A>G	(Likely) benign	1 lab	5764bf20b1
X:69615536 KIF4A G>A	X	69615536	69615536	G	A	KIF4A	c.2248G>A	NM_012310.5	NP_036442.3:p.(Glu750Lys)	NC_000023.10:g.69615536G>A	VUS	1 lab	5765fd184c
10:94409685 KIF11 A>G	10	94409685	94409685	A	G	KIF11	c.2864A>G	NM_004523.4	NP_004514.2:p.(Gln955Arg)	NC_000010.10:g.94409685A>G	VUS	1 lab	5766a5d70f
15:26793197 GABRB3 T>C	15	26793197	26793197	T	C	GABRB3	c.1165A>G	NM_000814.6	NP_000805.1:p.(Arg389Gly)	NC_000015.9:g.26793197T>C	VUS	1 lab	5767c6bdc5
19:11233601 LDLR C>T	19	11233601	11233601	C	T	LDLR	c.2141-249C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233601C>T	(Likely) benign	1 lab	57691c7710
15:48797302 FBN1 C>T	15	48797302	48797302	C	T	FBN1	c.1880G>A	NM_000138.5	NP_000129.3:p.(Arg627His)	NC_000015.9:g.48797302C>T	VUS	1 lab	57696edfcc
8:110131553 TRHR G>A	8	110131553	110131553	G	A	TRHR	c.1066G>A	NM_003301.7	NP_003292.1:p.(Val356Ile)	NC_000008.10:g.110131553G>A	(Likely) benign	1 lab	576c750c6b
14:105173862 INF2 ACCCCACCCCCAC>A	14	105173862	105173889	ACCCCACCCCCAC	A	INF2	c.1274_1285del	NM_022489.4	NP_071934.3:p.(Pro425_Pro428del)	NC_000014.8:g.105173878_105173889del	(Likely) benign	1 lab	576c882291
7:21584770 DNAH11 A>T	7	21584770	21584770	A	T	DNAH11	c.495+3A>T	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21584770A>T	VUS	1 lab	576eb3948e
9:91961836 SECISBP2 G>T	9	91961836	91961836	G	T	SECISBP2	c.1271G>T	NM_001282690.1	NP_001269619.1:p.(Gly424Val)	NC_000009.11:g.91961836G>T	(Likely) benign	1 lab	5770c45cd5
11:66283346 BBS1 A>G	11	66283346	66283346	A	G	BBS1	c.533A>G	NM_024649.5	NP_078925.3:p.(Glu178Gly)	NC_000011.9:g.66283346A>G	VUS	1 lab	5771dcc7af
2:179596620 TTN G>A	2	179596620	179596620	G	A	TTN	c.13250C>T	NM_133378.4	NP_596869.4:p.(Ala4417Val)	NC_000002.11:g.179596620G>A	VUS	1 lab	577357c786
4:55597561 KIT G>A	4	55597561	55597561	G	A	KIT	c.2209G>A	NM_000222.3	NP_000213.1:p.(Asp737Asn)	NC_000004.11:g.55597561G>A	VUS	1 lab	5778700e36
6:7581514 DSP T>C	6	7581514	7581514	T	C	DSP	c.5091T>C	NM_004415.4	NP_004406.2:p.(Asn1697=)	NC_000006.11:g.7581514T>C	(Likely) benign	1 lab	5779f49cfe
18:28662383 DSC2 T>A	18	28662383	28662383	T	A	DSC2	c.1084A>T	NM_004949.5	NP_004940.1:p.(Thr362Ser)	NC_000018.9:g.28662383T>A	VUS	1 lab	577ca478c3
19:50328391 MISSING Ref too long to show for this DEL>A	19	50328391	50347812	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.50328393_50347812del	VUS	1 lab	577eeef1e4
16:1004443 LMF1 G>A	16	1004443	1004443	G	A	LMF1	c.417C>T	NM_022773.4	NP_073610.2:p.(Phe139=)	NC_000016.9:g.1004443G>A	(Likely) benign	1 lab	5784321380
17:14082945 MISSING Ref too long to show for this DEL>C	17	14082945	15479940	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.14082946_15479940del	(Likely) pathogenic	1 lab	5788155bc4
15:67407974 SMAD3 G>A	15	67407974	67407974	G	A	SMAD3	c.207-49259G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67407974G>A	(Likely) benign	1 lab	578b40739b
12:32778581 FGD4 T>C	12	32778581	32778581	T	C	FGD4	c.1636-7T>C	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32778581T>C	(Likely) benign	1 lab	578dd9c3a3
2:179458285 TTN T>A	2	179458285	179458285	T	A	TTN	c.58732+10A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458285T>A	(Likely) benign	1 lab	57952b3e38
13:114740350 MISSING G>Alt too long to show for this DUP	13	114740350	114871982	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.114740351_114871982dup	(Likely) pathogenic	1 lab	5797edf7b8
19:17993010 SLC5A5 C>T	19	17993010	17993010	C	T	SLC5A5	c.1224C>T	NM_000453.3	NP_000444.1:p.(Leu408=)	NC_000019.9:g.17993010C>T	(Likely) benign	1 lab	579b01c478
14:23869525 MYH6 A>C	14	23869525	23869525	A	C	MYH6	c.1521T>G	NM_002471.4	NP_002462.2:p.(Ile507Met)	NC_000014.8:g.23869525A>C	VUS	1 lab	57a1c34eff
17:48265006 COL1A1 A>T	17	48265006	48265006	A	T	COL1A1	c.3370-108T>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265006A>T	(Likely) benign	1 lab	57a3937b02
17:2595291 CLUH C>CCCCGCT	17	2595291	2595292	C	CCCCGCT	CLUH	c.3651+6_3651+7insAGCGGG	NM_015229.4	NP_056044.4:p.?	NC_000017.10:g.2595291_2595292insCCCGCT	(Likely) benign	1 lab	57a836466a
1:3342130 PRDM16 G>A	1	3342130	3342130	G	A	PRDM16	c.2940-15G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342130G>A	(Likely) benign	1 lab	57a9e985a5
2:74589813 DCTN1 C>T	2	74589813	74589813	C	T	DCTN1	c.3573G>A	NM_004082.5	NP_004073.2:p.(Gln1191=)	NC_000002.11:g.74589813C>T	(Likely) benign	1 lab	57b05f8559
9:107583802 ABCA1 T>A	9	107583802	107583802	T	A	ABCA1	c.2829-15A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107583802T>A	(Likely) benign	1 lab	57b0693853
13:52523785 ATP7B G>T	13	52523785	52523785	G	T	ATP7B	c.2865+13C>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52523785G>T	(Likely) benign	1 lab	57b440439e
6:75816028 COL12A1 C>G	6	75816028	75816028	C	G	COL12A1	c.8178+107G>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75816028C>G	(Likely) benign	1 lab	57b570d65f
3:148917499 CP T>G	3	148917499	148917499	T	G	CP	c.1501A>C	NM_000096.4	NP_000087.2:p.(Ser501Arg)	NC_000003.11:g.148917499T>G	(Likely) benign	1 lab	57b8fc289c
3:38618271 SCN5A G>A	3	38618271	38618271	G	A	SCN5A	c.3392C>T	NM_198056.3	NP_932173.1:p.(Thr1131Ile)	NC_000003.11:g.38618271G>A	VUS	1 lab	57bc05b3b0
X:135288612 FHL1 CCACT>C	X	135288612	135288616	CCACT	C	FHL1	c.22_25del	NM_001159704.1	NP_001153176.1:p.(His8ThrfsTer21)	NC_000023.10:g.135288613_135288616del	(Likely) benign	1 lab	57c077a84c
17:38244642 THRA G>A	17	38244642	38244642	G	A	THRA	c.871G>A	NM_199334.5	NP_955366.1:p.(Gly291Ser)	NC_000017.10:g.38244642G>A	(Likely) pathogenic	1 lab	57c195eefb
7:81346640 HGF T>A	7	81346640	81346640	T	A	HGF	c.1313A>T	NM_000601.6	NP_000592.3:p.(Asn438Ile)	NC_000007.13:g.81346640T>A	VUS	1 lab	57c254cff7
16:67976396 LCAT G>A	16	67976396	67976396	G	A	LCAT	c.618C>T	NM_000229.2	NP_000220.1:p.(Leu206=)	NC_000016.9:g.67976396G>A	(Likely) benign	1 lab	57c3651570
5:127637496 FBN2 C>G	5	127637496	127637496	C	G	FBN2	c.5918-294G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127637496C>G	(Likely) benign	1 lab	57c71c1961
18:58038668 MC4R C>T	18	58038668	58038668	C	T	MC4R	c.915G>A	NM_005912.3	NP_005903.2:p.(Arg305=)	NC_000018.9:g.58038668C>T	(Likely) benign	1 lab	57c9f390da
11:93412426 MISSING T>Alt too long to show for this DUP	11	93412426	93741282	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.93412427_93741282dup	VUS	1 lab	57cb9dddeb
12:21960407 ABCC9 A>G	12	21960407	21960407	A	G	ABCC9	c.4322T>C	NM_005691.4	NP_005682.2:p.(Val1441Ala)	NC_000012.11:g.21960407A>G	VUS	1 lab	57cdf85ec3
11:121461843 SORL1 C>T	11	121461843	121461843	C	T	SORL1	c.4347C>T	NM_003105.6	NP_003096.2:p.(Asp1449=)	NC_000011.9:g.121461843C>T	(Likely) benign	1 lab	57cef32733
1:218609066 TGFB2 C>T	1	218609066	218609066	C	T	TGFB2	c.839-246C>T	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218609066C>T	(Likely) benign	1 lab	57cf7cc1a1
12:8808006 MFAP5 T>C	12	8808006	8808006	T	C	MFAP5	c.172+5A>G	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8808006T>C	(Likely) benign	1 lab	57d1ef1044
12:11214386 TAS2R46 T>G	12	11214386	11214386	T	G	TAS2R46	c.508A>C	NM_176887.2	NP_795368.2:p.(Ser170Arg)	NC_000012.11:g.11214386T>G	(Likely) benign	1 lab	57d3b5c97f
2:44047083 ABCG5 C>T	2	44047083	44047083	C	T	ABCG5	c.1620G>A	NM_022436.3	NP_071881.1:p.(Ala540=)	NC_000002.11:g.44047083C>T	VUS	1 lab	57d5a7609a
2:179429333 TTN G>A	2	179429333	179429333	G	A	TTN	c.81526C>T	NM_001267550.2	NP_001254479.2:p.(Arg27176Cys)	NC_000002.11:g.179429333G>A	VUS	1 lab	57dfec265e
12:32974416 PKP2 G>A	12	32974416	32974416	G	A	PKP2	c.2019C>T	NM_004572.4	NP_004563.2:p.(Gly673=)	NC_000012.11:g.32974416G>A	(Likely) benign	1 lab	57e04cf3ba
1:215996345 USH2A Ref too long to show for this DEL>A	1	215996345	216027946	Ref too long to show for this DEL	A	USH2A	c.8846-8570_9372-5809del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215996347_216027946del	VUS	1 lab	57e0e5f211
10:71160897 HK1 C>T	10	71160897	71160897	C	T	HK1	c.*6C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71160897C>T	(Likely) benign	1 lab	57f8343e10
9:137645411 COL5A1 G>A	9	137645411	137645411	G	A	COL5A1	c.1720-285G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137645411G>A	(Likely) benign	1 lab	57e9c6af0a
16:15813131 MYH11 G>A	16	15813131	15813131	G	A	MYH11	c.5138C>T	NM_001040113.2	NP_001035202.1:p.(Ala1713Val)	NC_000016.9:g.15813131G>A	VUS	1 lab	57eac61cb7
16:15853837 MYH11 C>G	16	15853837	15853837	C	G	MYH11	c.1249-252G>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15853837C>G	(Likely) benign	1 lab	57eb6a77ac
15:48757483 FBN1 A>C	15	48757483	48757483	A	C	FBN1	c.4942+282T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48757483A>C	(Likely) benign	1 lab	57ed8ffbd9
18:50848521 DCC C>T	18	50848521	50848521	C	T	DCC	c.2158C>T	NM_005215.4	NP_005206.2:p.(Leu720=)	NC_000018.9:g.50848521C>T	(Likely) benign	1 lab	57edb2daeb
14:102904551 TECPR2 CCCCGCTCCCTGCT>C	14	102904551	102904584	CCCCGCTCCCTGCT	C	TECPR2	c.2578+30_2578+42del	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102904572_102904584del	(Likely) benign	1 lab	57ef0ff126
7:150646884 KCNH2 T>A	7	150646884	150646884	T	A	KCNH2	c.2398+372A>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150646884T>A	(Likely) benign	1 lab	57efe6a383
2:179514320 TTN CCTT>C	2	179514320	179514327	CCTT	C	TTN	c.39931_39933del	NM_001267550.2	NP_001254479.2:p.(Lys13311del)	NC_000002.11:g.179514325_179514327del	VUS	1 lab	57fc7a35df
16:920571 LMF1 G>A	16	920571	920571	G	A	LMF1	c.833+158C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920571G>A	(Likely) benign	1 lab	57ff1e21d5
16:88593272 ZFPM1 G>A	16	88593272	88593272	G	A	ZFPM1	c.453G>A	NM_153813.3	NP_722520.2:p.(Thr151=)	NC_000016.9:g.88593272G>A	(Likely) benign	1 lab	57ff65d4c8
9:107646803 ABCA1 C>T	9	107646803	107646803	C	T	ABCA1	c.207G>A	NM_005502.4	NP_005493.2:p.(Trp69Ter)	NC_000009.11:g.107646803C>T	(Likely) pathogenic	1 lab	58018a764f
20:746080 SLC52A3 G>A	20	746080	746080	G	A	SLC52A3	c.339C>T	NM_033409.4	NP_212134.3:p.(Phe113=)	NC_000020.10:g.746080G>A	(Likely) benign	1 lab	580207d5e7
12:133218801 POLE G>A	12	133218801	133218801	G	A	POLE	c.5135C>T	NM_006231.4	NP_006222.2:p.(Ala1712Val)	NC_000012.11:g.133218801G>A	(Likely) benign	1 lab	58042a2293
11:125864206 CDON T>C	11	125864206	125864206	T	C	CDON	c.2623A>G	NM_001243597.2	NP_001230526.1:p.(Ser875Gly)	NC_000011.9:g.125864206T>C	(Likely) benign	1 lab	5804b5b740
18:7014009 LAMA1 G>A	18	7014009	7014009	G	A	LAMA1	c.3168C>T	NM_005559.4	NP_005550.2:p.(Cys1056=)	NC_000018.9:g.7014009G>A	(Likely) benign	1 lab	5806bdb98c
12:7361270 PEX5 G>A	12	7361270	7361270	G	A	PEX5	c.1394+5G>A	NM_001131025.2	NP_001124497.1:p.?	NC_000012.11:g.7361270G>A	(Likely) pathogenic	1 lab	580a1d38a7
19:10252856 DNMT1 C>T	19	10252856	10252856	C	T	DNMT1	c.3157G>A	NM_001130823.3	NP_001124295.1:p.(Ala1053Thr)	NC_000019.9:g.10252856C>T	VUS	1 lab	5810e476be
2:68849339 MISSING A>Alt too long to show for this DUP	2	68849339	68901928	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.68849340_68901928dup	VUS	1 lab	581275587b
6:31324207 HLA-B AGG>A	6	31324207	31324210	AGG	A	HLA-B	c.354_355del	NM_005514.8	NP_005505.2:p.(Leu119ProfsTer19)	NC_000006.11:g.31324209_31324210del	(Likely) benign	1 lab	5812eb8bea
1:197403969 CRB1 A>G	1	197403969	197403969	A	G	CRB1	c.2904A>G	NM_001257965.2	NP_001244894.1:p.(Ala968=)	NC_000001.10:g.197403969A>G	(Likely) benign	1 lab	58135c5f2a
12:977863 WNK1 C>T	12	977863	977863	C	T	WNK1	c.2971C>T	NM_001184985.2	NP_001171914.1:p.(Arg991Ter)	NC_000012.11:g.977863C>T	(Likely) pathogenic	1 lab	581384e1b1
X:152771820 BGN C>T	X	152771820	152771820	C	T	BGN	c.566-167C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771820C>T	(Likely) benign	1 lab	5818de3ae6
11:47371315 MYBPC3 G>A	11	47371315	47371315	G	A	MYBPC3	c.654+10C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371315G>A	(Likely) benign	1 lab	5819490fea
1:3329068 PRDM16 C>T	1	3329068	3329068	C	T	PRDM16	c.2307C>T	NM_022114.4	NP_071397.3:p.(Ala769=)	NC_000001.10:g.3329068C>T	(Likely) benign	1 lab	581dae71b3
10:75874622 VCL G>C	10	75874622	75874622	G	C	VCL	c.3019G>C	NM_003373.4	NP_003364.1:p.(Gly1007Arg)	NC_000010.10:g.75874622G>C	VUS	1 lab	582004774a
8:1791510 ARHGEF10 T>C	8	1791510	1791510	T	C	ARHGEF10	c.26-9T>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1791510T>C	(Likely) benign	1 lab	5825e32322
11:1016707 MUC6 T>C	11	1016707	1016707	T	C	MUC6	c.6094A>G	NM_005961.3	NP_005952.2:p.(Met2032Val)	NC_000011.9:g.1016707T>C	(Likely) benign	1 lab	5826d5f3cf
19:15288793 NOTCH3 G>A	19	15288793	15288793	G	A	NOTCH3	c.3946C>T	NM_000435.3	NP_000426.2:p.(Pro1316Ser)	NC_000019.9:g.15288793G>A	(Likely) benign	1 lab	586715c1f7
8:1846673 ARHGEF10 G>A	8	1846673	1846673	G	A	ARHGEF10	c.1704G>A	NM_001308153.2	NP_001295082.1:p.(Gln568=)	NC_000008.10:g.1846673G>A	(Likely) benign	1 lab	582c77e1d5
19:33353113 SLC7A9 C>CT	19	33353113	33353116	C	CT	SLC7A9	c.614dup	NM_001243036.2	NP_001229965.1:p.(Asn206GlufsTer3)	NC_000019.9:g.33353116dup	(Likely) pathogenic	1 lab	582dc97bfa
2:179450021 TTN G>GT	2	179450021	179450027	G	GT	TTN	c.64449dup	NM_001267550.2	NP_001254479.2:p.(Leu21484ThrfsTer4)	NC_000002.11:g.179450027dup	(Likely) pathogenic	1 lab	583245610b
19:55316364 KIR2DL4 A>G	19	55316364	55316364	A	G	KIR2DL4	c.193A>G	NM_001080772.2	NP_001074241.1:p.(Lys65Glu)	NC_000019.9:g.55316364A>G	(Likely) benign	1 lab	58389d63da
X:152772545 BGN G>A	X	152772545	152772545	G	A	BGN	c.811G>A	NM_001711.6	NP_001702.1:p.(Gly271Arg)	NC_000023.10:g.152772545G>A	VUS	1 lab	5839973752
17:39262096 KRTAP4-9 C>T	17	39262096	39262096	C	T	KRTAP4-9	c.456C>T	NM_001146041.1	NP_001139513.1:p.(Pro152=)	NC_000017.10:g.39262096C>T	(Likely) benign	1 lab	583bb4529c
15:45445692 DUOX1 ATGTGTGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTGTGTG	A	DUOX1	c.3524+55_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445732_45445745del	(Likely) benign	1 lab	583d04dfbc
6:82925972 IBTK T>TA	6	82925972	82925981	T	TA	IBTK	c.1427-6dup	NM_015525.4	NP_056340.2:p.?	NC_000006.11:g.82925981dup	(Likely) benign	1 lab	583e1387a3
15:58855772 LIPC T>C	15	58855772	58855772	T	C	LIPC	c.1238T>C	NM_000236.3	NP_000227.2:p.(Leu413Pro)	NC_000015.9:g.58855772T>C	VUS	1 lab	58426bfb3f
12:2558279 CACNA1C G>T	12	2558279	2558279	G	T	CACNA1C	c.615G>T	NM_199460.4	NP_955630.3:p.(Val205=)	NC_000012.11:g.2558279G>T	(Likely) benign	1 lab	5842ca1d95
2:44055172 ABCG5 G>A	2	44055172	44055172	G	A	ABCG5	c.584C>T	NM_022436.3	NP_071881.1:p.(Thr195Met)	NC_000002.11:g.44055172G>A	VUS	1 lab	5845e92786
10:72631626 SGPL1 C>T	10	72631626	72631626	C	T	SGPL1	c.942C>T	NM_003901.4	NP_003892.2:p.(Val314=)	NC_000010.10:g.72631626C>T	(Likely) benign	1 lab	5846b54ced
17:48268302 COL1A1 G>C	17	48268302	48268302	G	C	COL1A1	c.2236-17C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48268302G>C	(Likely) benign	1 lab	58485ae7da
19:10088271 COL5A3 C>G	19	10088271	10088271	C	G	COL5A3	c.3125G>C	NM_015719.4	NP_056534.2:p.(Arg1042Pro)	NC_000019.9:g.10088271C>G	(Likely) benign	1 lab	58499e3703
3:32181736 GPD1L C>T	3	32181736	32181736	C	T	GPD1L	c.383C>T	NM_015141.4	NP_055956.1:p.(Pro128Leu)	NC_000003.11:g.32181736C>T	VUS	1 lab	584b0bf8ed
5:176683954 NSD1 A>G	5	176683954	176683954	A	G	NSD1	c.4768A>G	NM_022455.5	NP_071900.2:p.(Ile1590Val)	NC_000005.9:g.176683954A>G	VUS	1 lab	584d6f5a07
15:64010854 HERC1 A>T	15	64010854	64010854	A	T	HERC1	c.3897T>A	NM_003922.4	NP_003913.3:p.(Cys1299Ter)	NC_000015.9:g.64010854A>T	(Likely) pathogenic	1 lab	58508bddfd
1:55512018 PCSK9 A>T	1	55512018	55512018	A	T	PCSK9	c.400-178A>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512018A>T	(Likely) benign	1 lab	585191e2be
17:79514675 FAAP100 T>C	17	79514675	79514675	T	C	FAAP100	c.1433A>G	NM_025161.6	NP_079437.5:p.(Gln478Arg)	NC_000017.10:g.79514675T>C	(Likely) benign	1 lab	58528e37b0
1:116926650 ATP1A1 G>C	1	116926650	116926650	G	C	ATP1A1	c.27G>C	NM_001160233.2	NP_001153705.1:p.(Lys9Asn)	NC_000001.10:g.116926650G>C	VUS	1 lab	5853c5b21e
17:42428455 GRN TG>T	17	42428455	42428456	TG	T	GRN	c.760del	NM_002087.4	NP_002078.1:p.(Asp254ThrfsTer2)	NC_000017.10:g.42428456del	(Likely) pathogenic	1 lab	585502e927
15:42010769 MISSING C>Alt too long to show for this DUP	15	42010769	42269398	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.42010772_42269398dup	VUS	1 lab	5cbabcfa6f
17:7751021 KDM6B CCT>C	17	7751021	7751023	CCT	C	KDM6B	c.1416_1417del	NM_001080424.2	NP_001073893.1:p.(Cys473SerfsTer36)	NC_000017.10:g.7751022_7751023del	(Likely) pathogenic	1 lab	5855d6c540
11:121420750 SORL1 C>T	11	121420750	121420750	C	T	SORL1	c.2133C>T	NM_003105.6	NP_003096.2:p.(Ser711=)	NC_000011.9:g.121420750C>T	(Likely) benign	1 lab	58560da924
15:25222966 SNRPN T>A	15	25222966	25222966	T	A	SNRPN	c.462T>A	NM_022807.5	NP_073718.1:p.(Ala154=)	NC_000015.9:g.25222966T>A	(Likely) benign	1 lab	585688f318
15:40300214 EIF2AK4 G>C	15	40300214	40300214	G	C	EIF2AK4	c.3408-14G>C	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40300214G>C	(Likely) benign	1 lab	585905648d
7:91652257 AKAP9 A>G	7	91652257	91652257	A	G	AKAP9	c.4082A>G	NM_005751.5	NP_005742.4:p.(Tyr1361Cys)	NC_000007.13:g.91652257A>G	VUS	1 lab	586df8e5b0
20:31996410 SNTA1 A>G	20	31996410	31996410	A	G	SNTA1	c.1426-5T>C	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.31996410A>G	(Likely) benign	1 lab	585e268035
X:70444071 GJB1 C>T	X	70444071	70444071	C	T	GJB1	c.514C>T	NM_000166.6	NP_000157.1:p.(Pro172Ser)	NC_000023.10:g.70444071C>T	(Likely) pathogenic	1 lab	5860026883
3:139093420 COPB2 CAT>C	3	139093420	139093422	CAT	C	COPB2	c.660_661del	NM_004766.3	NP_004757.1:p.(Val222AlafsTer18)	NC_000003.11:g.139093421_139093422del	(Likely) pathogenic	1 lab	5860f8e3ab
19:17397497 ANKLE1 G>T	19	17397497	17397497	G	T	ANKLE1	c.1767G>T	NM_001278444.2	NP_001265373.2:p.(Val589=)	NC_000019.9:g.17397497G>T	(Likely) benign	1 lab	58628c4b06
19:7620610 PNPLA6 C>T	19	7620610	7620610	C	T	PNPLA6	c.3084C>T	NM_001166111.2	NP_001159583.1:p.(Ser1028=)	NC_000019.9:g.7620610C>T	(Likely) benign	1 lab	5864dafe1e
X:31792143 DMD A>G	X	31792143	31792143	A	G	DMD	c.7476T>C	NM_004006.3	NP_003997.2:p.(Val2492=)	NC_000023.10:g.31792143A>G	(Likely) benign	1 lab	58650b827f
2:179400499 TTN T>C	2	179400499	179400499	T	C	TTN	c.100843A>G	NM_001267550.2	NP_001254479.2:p.(Ile33615Val)	NC_000002.11:g.179400499T>C	VUS	1 lab	5869857fce
1:2985810 PRDM16 C>T	1	2985810	2985810	C	T	PRDM16	c.-14C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.2985810C>T	(Likely) benign	1 lab	586bd88723
22:38369813 SOX10 G>A	22	38369813	38369813	G	A	SOX10	c.1090C>T	NM_006941.4	NP_008872.1:p.(Gln364Ter)	NC_000022.10:g.38369813G>A	(Likely) pathogenic	1 lab	586bd9f9d6
20:33665957 TRPC4AP C>T	20	33665957	33665957	C	T	TRPC4AP	c.189G>A	NM_015638.3	NP_056453.1:p.(Thr63=)	NC_000020.10:g.33665957C>T	(Likely) benign	1 lab	5871330ee1
2:48027894 MSH6 T>C	2	48027894	48027894	T	C	MSH6	c.2772T>C	NM_000179.3	NP_000170.1:p.(Thr924=)	NC_000002.11:g.48027894T>C	(Likely) benign	1 lab	5873654596
2:96949338 SNRNP200 G>A	2	96949338	96949338	G	A	SNRNP200	c.4698C>T	NM_014014.5	NP_054733.2:p.(Arg1566=)	NC_000002.11:g.96949338G>A	VUS	1 lab	5875300217
2:30560995 MISSING G>Alt too long to show for this DUP	2	30560995	30660735	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.30560997_30660735dup	VUS	1 lab	58753ec963
5:148386509 SH3TC2 T>C	5	148386509	148386509	T	C	SH3TC2	c.3610A>G	NM_024577.4	NP_078853.2:p.(Lys1204Glu)	NC_000005.9:g.148386509T>C	VUS	1 lab	587bee2ebf
2:21229857 APOB A>G	2	21229857	21229857	A	G	APOB	c.9883T>C	NM_000384.3	NP_000375.3:p.(Tyr3295His)	NC_000002.11:g.21229857A>G	(Likely) benign	1 lab	587c9857d9
19:11210905 LDLR A>G	19	11210905	11210905	A	G	LDLR	c.74A>G	NM_000527.5	NP_000518.1:p.(Asp25Gly)	NC_000019.9:g.11210905A>G	VUS	1 lab	587e5989c5
15:22669110 MISSING Ref too long to show for this DEL>G	15	22669110	23435324	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.22669111_23435324del	(Likely) pathogenic	1 lab	5d86f632f7
15:48784436 FBN1 G>A	15	48784436	48784436	G	A	FBN1	c.2854+222C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48784436G>A	(Likely) benign	1 lab	5881d782c9
2:21231372 APOB C>T	2	21231372	21231372	C	T	APOB	c.8368G>A	NM_000384.3	NP_000375.3:p.(Ala2790Thr)	NC_000002.11:g.21231372C>T	VUS	1 lab	5884b5e793
8:10762241 MISSING A>Alt too long to show for this DUP	8	10762241	11504919	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.10762242_11504919dup	VUS	1 lab	58862d05ed
17:8192111 SLC25A35 A>G	17	8192111	8192111	A	G	SLC25A35	c.*823T>C	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192111A>G	(Likely) benign	1 lab	588662ed0a
12:2613716 CACNA1C C>T	12	2613716	2613716	C	T	CACNA1C	c.1114-292C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2613716C>T	(Likely) benign	1 lab	588697d08e
2:44078805 ABCG8 T>C	2	44078805	44078805	T	C	ABCG8	c.405T>C	NM_022437.3	NP_071882.1:p.(Asn135=)	NC_000002.11:g.44078805T>C	(Likely) benign	1 lab	5889e7d73e
14:64497930 SYNE2 G>A	14	64497930	64497930	G	A	SYNE2	c.7076G>A	NM_182914.3	NP_878918.2:p.(Ser2359Asn)	NC_000014.8:g.64497930G>A	(Likely) benign	1 lab	588a1f388b
8:117863017 RAD21 T>C	8	117863017	117863017	T	C	RAD21	c.1471-11A>G	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117863017T>C	(Likely) benign	1 lab	588d4afe81
11:126250237 ST3GAL4 Ref too long to show for this DEL>C	11	126250237	126272032	Ref too long to show for this DEL	C	ST3GAL4	c.-61+24501_-60-3959del	NM_001254757.2	NP_001241686.1:p.?	NC_000011.9:g.126250238_126272032del	VUS	1 lab	588ea2e8d6
19:11213739 LDLR C>T	19	11213739	11213739	C	T	LDLR	c.313+277C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213739C>T	VUS	1 lab	588f419f38
15:93498721 CHD2 T>C	15	93498721	93498721	T	C	CHD2	c.1788T>C	NM_001271.4	NP_001262.3:p.(Tyr596=)	NC_000015.9:g.93498721T>C	(Likely) benign	1 lab	58903749c1
2:21236245 APOB A>C	2	21236245	21236245	A	C	APOB	c.4003T>G	NM_000384.3	NP_000375.3:p.(Phe1335Val)	NC_000002.11:g.21236245A>C	(Likely) benign	1 lab	58956ae69c
1:55523734 PCSK9 C>T	1	55523734	55523734	C	T	PCSK9	c.1206C>T	NM_174936.4	NP_777596.2:p.(Ala402=)	NC_000001.10:g.55523734C>T	(Likely) benign	1 lab	5897107691
11:116708062 APOA1 C>T	11	116708062	116708062	C	T	APOA1	c.42G>A	NM_001318017.2	NP_001304946.1:p.(Thr14=)	NC_000011.9:g.116708062C>T	(Likely) benign	1 lab	5897f57c3b
14:102027868 DIO3 G>A	14	102027868	102027868	G	A	DIO3	c.35G>A	NM_001362.3	NP_001353.4:p.(Gly12Glu)	NC_000014.8:g.102027868G>A	(Likely) benign	1 lab	5898148d28
11:65318938 LTBP3 C>T	11	65318938	65318938	C	T	LTBP3	c.1556G>A	NM_001130144.3	NP_001123616.1:p.(Ser519Asn)	NC_000011.9:g.65318938C>T	(Likely) benign	1 lab	589a3b7d77
12:124352590 DNAH10 C>T	12	124352590	124352590	C	T	DNAH10	c.7089C>T	NM_207437.3	NP_997320.2:p.(Asp2363=)	NC_000012.11:g.124352590C>T	(Likely) benign	1 lab	589f5dc535
14:23893266 MYH7 C>T	14	23893266	23893266	C	T	MYH7	c.2772G>A	NM_000257.4	NP_000248.2:p.(Glu924=)	NC_000014.8:g.23893266C>T	(Likely) benign	1 lab	589fc93b08
3:38603946 SCN5A A>C	3	38603946	38603946	A	C	SCN5A	c.3923T>G	NM_198056.3	NP_932173.1:p.(Leu1308Arg)	NC_000003.11:g.38603946A>C	VUS	1 lab	58a269e8bc
12:57909005 MARS1 C>T	12	57909005	57909005	C	T	MARS1	c.2277C>T	NM_004990.4	NP_004981.2:p.(Tyr759=)	NC_000012.11:g.57909005C>T	(Likely) benign	1 lab	58a2de8951
8:61761711 CHD7 A>C	8	61761711	61761711	A	C	CHD7	c.5402A>C	NM_017780.4	NP_060250.2:p.(His1801Pro)	NC_000008.10:g.61761711A>C	(Likely) pathogenic	1 lab	58a53ff403
7:94043915 COL1A2 T>C	7	94043915	94043915	T	C	COL1A2	c.1719+328T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94043915T>C	(Likely) benign	1 lab	58a9c8899c
6:126073423 HEY2 A>G	6	126073423	126073423	A	G	HEY2	c.246+187A>G	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126073423A>G	(Likely) benign	1 lab	58a9d26758
4:6086694 JAKMIP1 T>TAAA	4	6086694	6086721	T	TAAA	JAKMIP1	c.835-5_835-3dup	NM_001099433.2	NP_001092903.1:p.?	NC_000004.11:g.6086719_6086721dup	(Likely) benign	1 lab	58ac533106
15:48726844 FBN1 A>C	15	48726844	48726844	A	C	FBN1	c.6563T>G	NM_000138.5	NP_000129.3:p.(Phe2188Cys)	NC_000015.9:g.48726844A>C	(Likely) pathogenic	1 lab	58ae8c6c28
6:42689595 PRPH2 G>A	6	42689595	42689595	G	A	PRPH2	c.478C>T	NM_000322.5	NP_000313.2:p.(Gln160Ter)	NC_000006.11:g.42689595G>A	(Likely) pathogenic	1 lab	58af40e0d3
1:78392303 NEXN TTTTG>T	1	78392303	78392318	TTTTG	T	NEXN	c.687+19_687+22del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392315_78392318del	(Likely) benign	1 lab	58b07a1f91
4:100542572 MTTP CA>C	4	100542572	100542581	CA	C	MTTP	c.2513+193del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542581del	(Likely) benign	1 lab	58b0e03f7c
9:107575011 ABCA1 A>T	9	107575011	107575011	A	T	ABCA1	c.3902-8T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107575011A>T	VUS	1 lab	58b0fd0c02
6:110110943 FIG4 G>T	6	110110943	110110943	G	T	FIG4	c.2180+63G>T	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110110943G>T	(Likely) benign	1 lab	58b6b328a9
3:58133973 FLNB C>T	3	58133973	58133973	C	T	FLNB	c.5862C>T	NM_001164317.2	NP_001157789.1:p.(Ala1954=)	NC_000003.11:g.58133973C>T	(Likely) benign	1 lab	58b6d28de1
9:107620835 ABCA1 G>A	9	107620835	107620835	G	A	ABCA1	c.688C>T	NM_005502.4	NP_005493.2:p.(Arg230Cys)	NC_000009.11:g.107620835G>A	(Likely) benign	1 lab	58baab8f4b
8:19811751 LPL T>C	8	19811751	19811751	T	C	LPL	c.662T>C	NM_000237.3	NP_000228.1:p.(Ile221Thr)	NC_000008.10:g.19811751T>C	(Likely) pathogenic	1 lab	58bfeca9bc
15:58724331 LIPC A>C	15	58724331	58724331	A	C	LIPC	c.88+12A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724331A>C	(Likely) benign	1 lab	58c2e290c0
20:25281483 ABHD12 A>G	20	25281483	25281483	A	G	ABHD12				NC_000020.10:g.25281483A>G	VUS	1 lab	58c3629039
1:147599111 MISSING Ref too long to show for this DEL>C	1	147599111	147955345	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.147599114_147955345del	(Likely) pathogenic	1 lab	58c3f126a6
1:237729917 RYR2 C>T	1	237729917	237729917	C	T	RYR2	c.3265C>T	NM_001035.3	NP_001026.2:p.(Arg1089Cys)	NC_000001.10:g.237729917C>T	VUS	1 lab	58c43634d7
X:38146014 RPGR TTC>T	X	38146014	38146019	TTC	T	RPGR	c.2236_2237del	NM_001034853.2	NP_001030025.1:p.(Glu746ArgfsTer23)	NC_000023.10:g.38146018_38146019del	(Likely) pathogenic	1 lab	58c5025cee
10:48383844 RBP3 C>T	10	48383844	48383844	C	T	RBP3	c.3388G>A	NM_002900.3	NP_002891.1:p.(Gly1130Ser)	NC_000010.10:g.48383844C>T	VUS	1 lab	58c6b84146
19:45410911 APOE T>G	19	45410911	45410911	T	G	APOE	c.122-106T>G	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45410911T>G	(Likely) benign	1 lab	58c6d6d9c6
19:23624726 MISSING Ref too long to show for this DEL>T	19	23624726	24061027	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.23624729_24061027del	VUS	1 lab	58ca2b133b
1:1374909 VWA1 G>A	1	1374909	1374909	G	A	VWA1	c.1080G>A	NM_022834.5	NP_073745.2:p.(Ala360=)	NC_000001.10:g.1374909G>A	(Likely) benign	1 lab	58ce09fa46
18:29102067 DSG2 A>G	18	29102067	29102067	A	G	DSG2	c.545A>G	NM_001943.5	NP_001934.2:p.(Asn182Ser)	NC_000018.9:g.29102067A>G	VUS	1 lab	58ce2473a6
17:41256087 BRCA1 G>GA	17	41256087	41256097	G	GA	BRCA1	c.441+51dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256097dup	(Likely) benign	1 lab	58d258a71f
7:6027227 PMS2 G>A	7	6027227	6027227	G	A	PMS2	c.1169C>T	NM_000535.7	NP_000526.2:p.(Ala390Val)	NC_000007.13:g.6027227G>A	VUS	1 lab	58d43ee3ee
4:100137315 ADH6 TA>T	4	100137315	100137316	TA	T	ADH6	c.120+2del	NM_001102470.2	NP_001095940.1:p.?	NC_000004.11:g.100137316del	(Likely) benign	1 lab	58d9176719
9:137705850 COL5A1 G>A	9	137705850	137705850	G	A	COL5A1	c.3874G>A	NM_000093.5	NP_000084.3:p.(Glu1292Lys)	NC_000009.11:g.137705850G>A	(Likely) pathogenic	1 lab	58da204fe6
17:14098766 MISSING Ref too long to show for this DEL>A	17	14098766	15491533	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.14098767_15491533del	(Likely) pathogenic	1 lab	58dc916a34
2:21250178 APOB A>ATTTTT	2	21250178	21250201	A	ATTTTT	APOB	c.2068-347_2068-343dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250197_21250201dup	(Likely) benign	1 lab	58dd630039
4:6303457 WFS1 G>T	4	6303457	6303457	G	T	WFS1	c.1935G>T	NM_006005.3	NP_005996.2:p.(Leu645=)	NC_000004.11:g.6303457G>T	(Likely) benign	1 lab	58e089e8a4
14:21775990 RPGRIP1 C>T	14	21775990	21775990	C	T	RPGRIP1	c.901C>T	NM_020366.4	NP_065099.3:p.(Gln301Ter)	NC_000014.8:g.21775990C>T	(Likely) pathogenic	1 lab	58e2347cbc
2:51232246 NRXN1 Ref too long to show for this DEL>T	2	51232246	51260554	Ref too long to show for this DEL	T	NRXN1				NC_000002.11:g.51232248_51260554del	(Likely) pathogenic	1 lab	58e5ab144a
2:179434462 TTN A>T	2	179434462	179434462	A	T	TTN	c.68693T>A	NM_133378.4	NP_596869.4:p.(Ile22898Lys)	NC_000002.11:g.179434462A>T	VUS	1 lab	58e8a65eb0
9:107548672 ABCA1 C>T	9	107548672	107548672	C	T	ABCA1	c.6309-1G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548672C>T	VUS	1 lab	58e8fa9d82
11:129788548 PRDM10 G>A	11	129788548	129788548	G	A	PRDM10	c.2112C>T	NM_020228.3	NP_064613.2:p.(Ala704=)	NC_000011.9:g.129788548G>A	(Likely) benign	1 lab	58ebe8945e
2:21232151 APOB T>G	2	21232151	21232151	T	G	APOB	c.7589A>C	NM_000384.3	NP_000375.3:p.(Gln2530Pro)	NC_000002.11:g.21232151T>G	VUS	1 lab	58ed0e20f7
6:16146914 MYLIP C>T	6	16146914	16146914	C	T	MYLIP	c.1270C>T	NM_013262.4	NP_037394.2:p.(Arg424Cys)	NC_000006.11:g.16146914C>T	VUS	1 lab	58ee964683
9:120475392 TLR4 A>G	9	120475392	120475392	A	G	TLR4	c.866A>G	NM_003266.4	NP_003257.1:p.(Asn289Ser)	NC_000009.11:g.120475392A>G	(Likely) benign	1 lab	58ef9b239e
2:179474063 TTN T>G	2	179474063	179474063	T	G	TTN	c.51974A>C	NM_001267550.2	NP_001254479.2:p.(Asp17325Ala)	NC_000002.11:g.179474063T>G	VUS	1 lab	58f2a7016d
11:108188216 ATM G>C	11	108188216	108188216	G	C	ATM	c.6315G>C	NM_000051.4	NP_000042.3:p.(Arg2105Ser)	NC_000011.9:g.108188216G>C	VUS	1 lab	58f779b6d1
16:57012190 CETP T>G	16	57012190	57012190	T	G	CETP	c.1146+23T>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012190T>G	(Likely) benign	1 lab	58f84aa0be
X:70444027 GJB1 A>G	X	70444027	70444027	A	G	GJB1	c.470A>G	NM_000166.6	NP_000157.1:p.(Tyr157Cys)	NC_000023.10:g.70444027A>G	(Likely) pathogenic	1 lab	58f98501ed
9:87570239 NTRK2 C>T	9	87570239	87570239	C	T	NTRK2	c.1979C>T	NM_006180.6	NP_006171.2:p.(Pro660Leu)	NC_000009.11:g.87570239C>T	(Likely) benign	1 lab	58f9da30b9
17:39925459 JUP CCTGGAGGG>C	17	39925459	39925468	CCTGGAGGG	C	JUP	c.469-8_469-1del	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39925461_39925468del	VUS	1 lab	58fa48a191
12:80045516 PAWR Ref too long to show for this DEL>T	12	80045516	80082112	Ref too long to show for this DEL	T	PAWR	c.516+1397_517-30530del	NM_002583.4	NP_002574.2:p.?	NC_000012.11:g.80045517_80082112del	VUS	1 lab	58fc1f557f
17:10552930 MYH3 A>ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGG	17	10552930	10552931	A	ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGG	MYH3	c.605_606insCCATCCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA	NM_002470.4	NP_002461.2:p.(Gly203HisfsTer25)	NC_000017.10:g.10552930_10552931insTGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGG	(Likely) benign	1 lab	58fd8d99a4
7:94050339 COL1A2 G>A	7	94050339	94050339	G	A	COL1A2	c.2314G>A	NM_000089.4	NP_000080.2:p.(Gly772Ser)	NC_000007.13:g.94050339G>A	(Likely) pathogenic	1 lab	5900b0971f
8:95793309 DPY19L4 TAG>T	8	95793309	95793311	TAG	T	DPY19L4	c.1633-2_1633-1del	NM_181787.3	NP_861452.2:p.?	NC_000008.10:g.95793310_95793311del	(Likely) benign	1 lab	590eefc1ba
9:139091615 LHX3 G>A	9	139091615	139091615	G	A	LHX3	c.330C>T	NM_001363746.1	NP_001350675.1:p.(Cys110=)	NC_000009.11:g.139091615G>A	(Likely) benign	1 lab	590f6b2379
2:211460313 CPS1 G>A	2	211460313	211460313	G	A	CPS1	c.1359+7G>A	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211460313G>A	(Likely) benign	1 lab	5910341918
1:180217604 LHX4 G>A	1	180217604	180217604	G	A	LHX4	c.248+13G>A	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180217604G>A	(Likely) benign	1 lab	59115a2a33
X:135432936 ADGRG4 A>Alt too long to show for this DUP	X	135432936	135447221	A	Alt too long to show for this DUP	ADGRG4	c.6727+345_7396+1467dup	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135432937_135447221dup	VUS	1 lab	591378125d
10:47087594 NPY4R G>A	10	47087594	47087594	G	A	NPY4R	c.811G>A	NM_001278794.2	NP_001265723.1:p.(Val271Met)	NC_000010.10:g.47087594G>A	VUS	1 lab	5913897854
10:54011358 PRKG1 A>C	10	54011358	54011358	A	C	PRKG1	c.1060A>C	NM_001098512.3	NP_001091982.1:p.(Asn354His)	NC_000010.10:g.54011358A>C	VUS	1 lab	5913f6512b
1:156105745 LMNA G>A	1	156105745	156105745	G	A	LMNA	c.990G>A	NM_170707.4	NP_733821.1:p.(Glu330=)	NC_000001.10:g.156105745G>A	(Likely) benign	1 lab	5914365f2e
2:179404190 TTN A>T	2	179404190	179404190	A	T	TTN	c.98602T>A	NM_001267550.2	NP_001254479.2:p.(Phe32868Ile)	NC_000002.11:g.179404190A>T	VUS	1 lab	59160e5c58
17:9124472 NTN1 C>CG	17	9124472	9124473	C	CG	NTN1	c.1412-13_1412-12insG	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124472_9124473insG	(Likely) benign	1 lab	59162d19bf
1:11907485 NPPA G>A	1	11907485	11907485	G	A	NPPA	c.135C>T	NM_006172.4	NP_006163.1:p.(Asp45=)	NC_000001.10:g.11907485G>A	(Likely) benign	1 lab	591684c69a
19:11221389 LDLR C>T	19	11221389	11221389	C	T	LDLR	c.1002C>T	NM_000527.5	NP_000518.1:p.(Ile334=)	NC_000019.9:g.11221389C>T	(Likely) benign	1 lab	591aa676a5
7:91659211 AKAP9 T>A	7	91659211	91659211	T	A	AKAP9	c.4151T>A	NM_005751.5	NP_005742.4:p.(Leu1384Ter)	NC_000007.13:g.91659211T>A	VUS	1 lab	591c1a1b6a
10:69959153 MYPN C>T	10	69959153	69959153	C	T	MYPN	c.3314C>T	NM_032578.4	NP_115967.2:p.(Thr1105Ile)	NC_000010.10:g.69959153C>T	VUS	1 lab	591c6b2c37
9:107580937 ABCA1 A>T	9	107580937	107580937	A	T	ABCA1	c.3462+7T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580937A>T	(Likely) benign	1 lab	5920607028
20:10625818 JAG1 C>G	20	10625818	10625818	C	G	JAG1	c.2200G>C	NM_000214.3	NP_000205.1:p.(Gly734Arg)	NC_000020.10:g.10625818C>G	VUS	1 lab	59209de299
11:116660686 APOA5 G>A	11	116660686	116660686	G	A	APOA5	c.*158C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660686G>A	(Likely) benign	1 lab	5921916e98
11:68154008 LRP5 G>A	11	68154008	68154008	G	A	LRP5	c.1240G>A	NM_002335.4	NP_002326.2:p.(Glu414Lys)	NC_000011.9:g.68154008G>A	VUS	1 lab	5924622542
2:219646893 CYP27A1 G>T	2	219646893	219646893	G	T	CYP27A1	c.-13G>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646893G>T	(Likely) benign	1 lab	592d38ce04
15:100252709 MEF2A CCAG>C	15	100252709	100252743	CCAG	C	MEF2A	c.1259_1261del	NM_001171894.3	NP_001165365.1:p.(Gln420del)	NC_000015.9:g.100252741_100252743del	(Likely) benign	1 lab	592ec371b9
11:116661290 APOA5 C>CGG	11	116661290	116661295	C	CGG	APOA5	c.653_654dup	NM_052968.5	NP_443200.2:p.(Ala219ProfsTer79)	NC_000011.9:g.116661294_116661295dup	(Likely) pathogenic	1 lab	592f873a65
15:20740293 GOLGA6L6 TGA>T	15	20740293	20740295	TGA	T	GOLGA6L6	c.1377_1378del	NM_001145004.2	NP_001138476.2:p.(Ile459MetfsTer70)	NC_000015.9:g.20740294_20740295del	(Likely) benign	1 lab	5931fcafef
1:236880986 ACTN2 G>A	1	236880986	236880986	G	A	ACTN2	c.127-172G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236880986G>A	(Likely) benign	1 lab	59340d4580
5:148366451 SH3TC2 G>A	5	148366451	148366451	G	A	SH3TC2	c.*17823C>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148366451G>A	(Likely) benign	1 lab	593457dfb1
11:31234957 MISSING Ref too long to show for this DEL>A	11	31234957	31683539	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.31234958_31683539del	VUS	1 lab	5936808898
7:7019886 MISSING A>Alt too long to show for this DUP	7	7019886	7335136	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.7019887_7335136dup	VUS	1 lab	5938cbc83a
5:21740924 MISSING A>Alt too long to show for this DUP	5	21740924	21772462	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.21740926_21772462dup	VUS	1 lab	593d4d3867
17:45216080 CDC27 A>Alt too long to show for this DUP	17	45216080	45219828	A	Alt too long to show for this DUP	CDC27	c.1171-26_1704+24dup	NM_001256.6	NP_001247.3:p.?	NC_000017.10:g.45216081_45219828dup	VUS	1 lab	593d5fb738
2:179642188 TTN C>T	2	179642188	179642188	C	T	TTN	c.4604G>A	NM_001267550.2	NP_001254479.2:p.(Arg1535Lys)	NC_000002.11:g.179642188C>T	VUS	1 lab	593d831901
17:48270373 COL1A1 G>A	17	48270373	48270373	G	A	COL1A1	c.1803C>T	NM_000088.4	NP_000079.2:p.(Pro601=)	NC_000017.10:g.48270373G>A	(Likely) benign	1 lab	593f3cb85d
1:40701938 RLF C>T	1	40701938	40701938	C	T	RLF	c.1564C>T	NM_012421.4	NP_036553.2:p.(Gln522Ter)	NC_000001.10:g.40701938C>T	VUS	1 lab	59403ede53
2:179579255 TTN A>G	2	179579255	179579255	A	G	TTN	c.22514T>C	NM_133378.4	NP_596869.4:p.(Val7505Ala)	NC_000002.11:g.179579255A>G	VUS	1 lab	594053d3c3
13:36223783 NBEA A>G	13	36223783	36223783	A	G	NBEA	c.7708-9A>G	NM_015678.5	NP_056493.3:p.?	NC_000013.10:g.36223783A>G	(Likely) benign	1 lab	594281db72
7:23212625 KLHL7 A>G	7	23212625	23212625	A	G	KLHL7	c.1294A>G	NM_018846.5	NP_061334.4:p.(Lys432Glu)	NC_000007.13:g.23212625A>G	VUS	1 lab	5945ba15b5
11:47359503 MYBPC3 C>CTT	11	47359503	47359522	C	CTT	MYBPC3	c.2309-160_2309-159dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359521_47359522dup	(Likely) benign	1 lab	59492343c3
1:63068295 ANGPTL3 C>A	1	63068295	63068295	C	A	ANGPTL3	c.931+244C>A	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63068295C>A	(Likely) benign	1 lab	5949d85cb6
22:29085164 CHEK2 C>T	22	29085164	29085164	C	T	CHEK2	c.1501G>A	NM_007194.4	NP_009125.1:p.(Glu501Lys)	NC_000022.10:g.29085164C>T	(Likely) benign	1 lab	595c88d429
9:113169126 SVEP1 G>A	9	113169126	113169126	G	A	SVEP1	c.8754C>T	NM_153366.4	NP_699197.3:p.(His2918=)	NC_000009.11:g.113169126G>A	(Likely) benign	1 lab	595d50f789
12:100384771 MISSING C>Alt too long to show for this DUP	12	100384771	100543600	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.100384772_100543600dup	VUS	1 lab	595ebf346b
X:70443688 GJB1 G>A	X	70443688	70443688	G	A	GJB1	c.131G>A	NM_000166.6	NP_000157.1:p.(Trp44Ter)	NC_000023.10:g.70443688G>A	VUS	1 lab	595f892402
9:101911391 TGFBR1 C>T	9	101911391	101911391	C	T	TGFBR1	c.1387-71C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101911391C>T	(Likely) benign	1 lab	5961a1c764
X:8565226 ANOS1 C>T	X	8565226	8565226	C	T	ANOS1	c.390G>A	NM_000216.4	NP_000207.2:p.(Lys130=)	NC_000023.10:g.8565226C>T	(Likely) benign	1 lab	596358181e
7:138556027 KIAA1549 G>A	7	138556027	138556027	G	A	KIAA1549	c.4427C>T	NM_001164665.2	NP_001158137.1:p.(Pro1476Leu)	NC_000007.13:g.138556027G>A	(Likely) benign	1 lab	59699a4676
4:22437051 ADGRA3 T>TCGAGCTGTGG	4	22437051	22437060	T	TCGAGCTGTGG	ADGRA3	c.1325_1326insCCACAGCTCG	NM_145290.4	NP_660333.2:p.(Gln443HisfsTer17)	NC_000004.11:g.22437059_22437060insGGCGAGCTGT	(Likely) benign	1 lab	596a19dfd8
11:47373843 MYBPC3 C>T	11	47373843	47373843	C	T	MYBPC3	c.25+331G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373843C>T	(Likely) benign	1 lab	596b284aa4
17:10554992 MYH3 G>A	17	10554992	10554992	G	A	MYH3	c.349-7C>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10554992G>A	(Likely) benign	1 lab	596bb39f6a
16:921433 LMF1 G>A	16	921433	921433	G	A	LMF1	c.499-92C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921433G>A	(Likely) benign	1 lab	596d966cb4
1:7061650 CAMTA1 Ref too long to show for this DEL>G	1	7061650	7446142	Ref too long to show for this DEL	G	CAMTA1	c.235-89712_439-81748del	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7061652_7446142del	(Likely) pathogenic	1 lab	596dbedc8c
1:237991721 RYR2 G>C	1	237991721	237991721	G	C	RYR2	c.14631G>C	NM_001035.3	NP_001026.2:p.(Gln4877His)	NC_000001.10:g.237991721G>C	VUS	1 lab	596df74309
17:6329954 AIPL1 A>G	17	6329954	6329954	A	G	AIPL1	c.765T>C	NM_014336.5	NP_055151.3:p.(Asp255=)	NC_000017.10:g.6329954A>G	(Likely) benign	1 lab	596f57c15e
18:45394870 SMAD2 A>G	18	45394870	45394870	A	G	SMAD2	c.521-42T>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45394870A>G	(Likely) benign	1 lab	5971532a5a
16:3900915 CREBBP G>GTTTA	16	3900915	3900916	G	GTTTA	CREBBP	c.180_181insTAAA	NM_004380.3	NP_004371.2:p.(Pro61Ter)	NC_000016.9:g.3900915_3900916insTTTA	(Likely) pathogenic	1 lab	5975630b92
X:32591698 DMD T>C	X	32591698	32591698	T	C	DMD	c.1392A>G	NM_004010.3	NP_004001.1:p.(Thr464=)	NC_000023.10:g.32591698T>C	(Likely) benign	1 lab	597739f01a
10:67862930 CTNNA3 T>C	10	67862930	67862930	T	C	CTNNA3	c.1962A>G	NM_013266.4	NP_037398.2:p.(Glu654=)	NC_000010.10:g.67862930T>C	(Likely) benign	1 lab	5979681dbd
20:42788432 JPH2 GGCAGC>G	20	42788432	42788438	GGCAGC	G	JPH2	c.990_994del	NM_020433.5	NP_065166.2:p.(Leu331ArgfsTer67)	NC_000020.10:g.42788434_42788438del	(Likely) benign	1 lab	597de060ea
17:19576668 ALDH3A2 TG>T	17	19576668	19576669	TG	T	ALDH3A2	c.*41+81del	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19576669del	(Likely) benign	1 lab	597e0d2991
7:29598550 MISSING C>Alt too long to show for this DUP	7	29598550	29909627	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.29598554_29909627dup	VUS	1 lab	597fe5be69
12:125263093 SCARB1 C>T	12	125263093	125263093	C	T	SCARB1	c.1441G>A	NM_001082959.2	NP_001076428.1:p.(Gly481Arg)	NC_000012.11:g.125263093C>T	(Likely) benign	1 lab	5980217e06
11:68170875 LRP5 C>T	11	68170875	68170875	C	T	LRP5	c.1585-76C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68170875C>T	(Likely) benign	1 lab	5980a518db
15:48826584 FBN1 C>T	15	48826584	48826584	C	T	FBN1	c.737-182G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826584C>T	(Likely) benign	1 lab	598370a3b8
11:47368547 MYBPC3 C>T	11	47368547	47368547	C	T	MYBPC3	c.908+31G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368547C>T	(Likely) benign	1 lab	598dcfcda3
2:21227418 APOB A>G	2	21227418	21227418	A	G	APOB	c.11903+15T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227418A>G	(Likely) benign	1 lab	598e080b2e
7:95775848 SLC25A13 T>TA	7	95775848	95775862	T	TA	SLC25A13	c.1452+19dup	NM_014251.3	NP_055066.1:p.?	NC_000007.13:g.95775862dup	(Likely) benign	1 lab	59921d614e
1:156095982 LMNA G>A	1	156095982	156095982	G	A	LMNA	c.-13G>A	NM_001257374.3	NP_001244303.1:p.?	NC_000001.10:g.156095982G>A	(Likely) benign	1 lab	59921fe29a
12:2786998 CACNA1C G>C	12	2786998	2786998	G	C	CACNA1C	c.5056G>C	NM_000719.7	NP_000710.5:p.(Ala1686Pro)	NC_000012.11:g.2786998G>C	VUS	1 lab	59941abe57
2:73829395 ALMS1 G>A	2	73829395	73829395	G	A	ALMS1	c.12201G>A	NM_015120.4	NP_055935.4:p.(Arg4067=)	NC_000002.11:g.73829395G>A	(Likely) benign	1 lab	59958cd14c
2:21234466 APOB G>A	2	21234466	21234466	G	A	APOB	c.5274C>T	NM_000384.3	NP_000375.3:p.(Asn1758=)	NC_000002.11:g.21234466G>A	(Likely) benign	1 lab	5996de6605
6:75892786 COL12A1 A>C	6	75892786	75892786	A	C	COL12A1	c.1871T>G	NM_004370.6	NP_004361.3:p.(Leu624Trp)	NC_000006.11:g.75892786A>C	VUS	1 lab	599714c656
20:33591197 TRPC4AP A>AG	20	33591197	33591200	A	AG	TRPC4AP	c.2256+15dup	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33591200dup	(Likely) benign	1 lab	59982cb48e
16:941850 LMF1 C>T	16	941850	941850	C	T	LMF1	c.330+1157G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.941850C>T	(Likely) benign	1 lab	599907a951
2:68522984 MISSING T>Alt too long to show for this DUP	2	68522984	68622070	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.68522987_68622070dup	VUS	1 lab	5999156f70
6:7556136 DSP C>G	6	7556136	7556136	C	G	DSP	c.273+83C>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7556136C>G	(Likely) benign	1 lab	599bf4241c
11:47358659 MYBPC3 C>A	11	47358659	47358659	C	A	MYBPC3	c.2602+283G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358659C>A	VUS	1 lab	599c19499b
15:73617659 HCN4 G>A	15	73617659	73617659	G	A	HCN4	c.1717C>T	NM_005477.3	NP_005468.1:p.(Leu573=)	NC_000015.9:g.73617659G>A	(Likely) benign	1 lab	59a0d5a83c
1:3331111 PRDM16 T>C	1	3331111	3331111	T	C	PRDM16	c.2604-13T>C	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3331111T>C	(Likely) benign	1 lab	59a37c53d2
8:133885320 TG T>A	8	133885320	133885320	T	A	TG	c.492T>A	NM_003235.5	NP_003226.4:p.(Cys164Ter)	NC_000008.10:g.133885320T>A	(Likely) pathogenic	1 lab	59a5597f11
X:114856739 PLS3 C>A	X	114856739	114856739	C	A	PLS3	c.237+18C>A	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114856739C>A	(Likely) benign	1 lab	59a70fafe4
X:21674999 KLHL34 C>T	X	21674999	21674999	C	T	KLHL34	c.908G>A	NM_153270.3	NP_695002.1:p.(Arg303Lys)	NC_000023.10:g.21674999C>T	(Likely) benign	1 lab	59a7f27ee9
2:179481965 TTN C>T	2	179481965	179481965	C	T	TTN	c.47761-4G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481965C>T	(Likely) benign	1 lab	59aadb1959
19:50918815 POLD1 C>T	19	50918815	50918815	C	T	POLD1	c.2685C>T	NM_001256849.1	NP_001243778.1:p.(Ala895=)	NC_000019.9:g.50918815C>T	(Likely) benign	1 lab	59ab34e145
16:929670 LMF1 T>TCGAAGCGA	16	929670	929678	T	TCGAAGCGA	LMF1	c.390_397dup	NM_001352018.2	NP_001338947.1:p.(Glu133ValfsTer49)	NC_000016.9:g.929671_929678dup	(Likely) pathogenic	1 lab	59ad296d10
4:114209658 ANK2 T>A	4	114209658	114209658	T	A	ANK2	c.2277+16T>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114209658T>A	(Likely) benign	1 lab	59aec66679
1:87380780 HS2ST1 G>GA	1	87380780	87380781	G	GA	HS2ST1	c.61_62insA	NM_012262.4	NP_036394.1:p.(Ala21AspfsTer34)	NC_000001.10:g.87380780_87380781insA	VUS	1 lab	59afc280c4
X:153453446 OPN1MW G>A	X	153453446	153453446	G	A	OPN1MW	c.300G>A	NM_000513.2	NP_000504.1:p.(Leu100=)	NC_000023.10:g.153453446G>A	(Likely) benign	1 lab	59b1c44571
12:21370046 SLCO1B1 G>A	12	21370046	21370046	G	A	SLCO1B1	c.1498-7G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370046G>A	(Likely) benign	1 lab	59b2153ee4
5:127668592 FBN2 T>C	5	127668592	127668592	T	C	FBN2	c.4222+12A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127668592T>C	(Likely) benign	1 lab	59b2738041
12:122248003 SETD1B C>T	12	122248003	122248003	C	T	SETD1B	c.1152C>T	NM_001353345.2	NP_001340274.1:p.(Pro384=)	NC_000012.11:g.122248003C>T	(Likely) benign	1 lab	59b76f6af9
1:94528238 ABCA4 A>G	1	94528238	94528238	A	G	ABCA4	c.1832T>C	NM_000350.3	NP_000341.2:p.(Leu611Pro)	NC_000001.10:g.94528238A>G	VUS	1 lab	59b9333d37
10:100202908 HPS1 G>A	10	100202908	100202908	G	A	HPS1	c.90C>T	NM_000195.5	NP_000186.2:p.(Phe30=)	NC_000010.10:g.100202908G>A	(Likely) benign	1 lab	59b93d0913
2:179532446 TTN A>T	2	179532446	179532446	A	T	TTN	c.35548T>A	NM_001267550.2	NP_001254479.2:p.(Tyr11850Asn)	NC_000002.11:g.179532446A>T	(Likely) benign	1 lab	59b9884f1c
10:67863021 CTNNA3 G>A	10	67863021	67863021	G	A	CTNNA3	c.1885-14C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67863021G>A	(Likely) benign	1 lab	59b9b1abc6
15:55841195 PYGO1 T>TA	15	55841195	55841208	T	TA	PYGO1	c.50-3dup	NM_015617.3	NP_056432.1:p.?	NC_000015.9:g.55841208dup	(Likely) benign	1 lab	59bab9fba0
12:122248417 SETD1B G>A	12	122248417	122248417	G	A	SETD1B	c.1566G>A	NM_001353345.2	NP_001340274.1:p.(Ser522=)	NC_000012.11:g.122248417G>A	(Likely) benign	1 lab	59be7bf97f
X:100511098 DRP2 C>T	X	100511098	100511098	C	T	DRP2	c.2247-9C>T	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100511098C>T	(Likely) benign	1 lab	59bfd0e4e3
19:11231176 LDLR GGACATGAGGAGCTGCCTCACAGGT>G	19	11231176	11231201	GGACATGAGGAGCTGCCTCACAGGT	G	LDLR	c.2120_2140+3del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231178_11231201del	(Likely) pathogenic	1 lab	59c6c548cd
19:11222274 LDLR G>T	19	11222274	11222274	G	T	LDLR	c.1145G>T	NM_000527.5	NP_000518.1:p.(Gly382Val)	NC_000019.9:g.11222274G>T	(Likely) pathogenic	1 lab	59c847357e
9:107589238 ABCA1 C>G	9	107589238	107589238	C	G	ABCA1	c.2328G>C	NM_005502.4	NP_005493.2:p.(Lys776Asn)	NC_000009.11:g.107589238C>G	(Likely) benign	1 lab	59ca23ec45
17:39927946 JUP G>A	17	39927946	39927946	G	A	JUP	c.161C>T	NM_001352773.2	NP_001339702.1:p.(Thr54Met)	NC_000017.10:g.39927946G>A	VUS	1 lab	59cb8b3e99
19:17728572 UNC13A C>T	19	17728572	17728572	C	T	UNC13A	c.4497G>A	NM_001080421.3	NP_001073890.2:p.(Ser1499=)	NC_000019.9:g.17728572C>T	(Likely) benign	1 lab	59d07f75e2
X:153760910 G6PD G>A	X	153760910	153760910	G	A	G6PD	c.1249C>T	NM_000402.4	NP_000393.4:p.(Arg417Cys)	NC_000023.10:g.153760910G>A	(Likely) pathogenic	1 lab	59d53014fd
8:19796944 LPL GCC>G	8	19796944	19796948	GCC	G	LPL	c.-5_-4del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796947_19796948del	VUS	1 lab	59d75f9ffd
2:179434205 TTN G>A	2	179434205	179434205	G	A	TTN	c.76654C>T	NM_001267550.2	NP_001254479.2:p.(Arg25552Ter)	NC_000002.11:g.179434205G>A	(Likely) pathogenic	1 lab	59d78fa123
X:8590322 MISSING T>Alt too long to show for this DUP	X	8590322	8711866	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.8590325_8711866dup	VUS	1 lab	59d9df4ac9
2:189850427 COL3A1 G>C	2	189850427	189850427	G	C	COL3A1	c.370G>C	NM_000090.4	NP_000081.2:p.(Gly124Arg)	NC_000002.11:g.189850427G>C	VUS	1 lab	59daa30b75
15:85360330 ALPK3 G>C	15	85360330	85360330	G	C	ALPK3				NC_000015.9:g.85360330G>C	VUS	1 lab	59deec712f
12:32761037 FGD4 C>CT	12	32761037	32761046	C	CT	FGD4	c.100+17dup	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32761046dup	(Likely) benign	1 lab	59e1ff4200
9:24532675 MISSING Ref too long to show for this DEL>C	9	24532675	24757756	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.24532677_24757756del	VUS	1 lab	59e772c19b
6:32012985 TNXB C>T	6	32012985	32012985	C	T	TNXB	c.10719G>A	NM_019105.8	NP_061978.6:p.(Ser3573=)	NC_000006.11:g.32012985C>T	(Likely) benign	1 lab	59e8ed2020
21:44484456 MISSING T>Alt too long to show for this DUP	21	44484456	44531223	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.44484460_44531223dup	(Likely) pathogenic	1 lab	59eb280694
15:72955044 GOLGA6B C>T	15	72955044	72955044	C	T	GOLGA6B	c.1299C>T	NM_018652.4	NP_061122.4:p.(Ser433=)	NC_000015.9:g.72955044C>T	(Likely) benign	1 lab	59ec192eee
22:22989731 GGTLC2 G>A	22	22989731	22989731	G	A	GGTLC2	c.583G>A	NM_001282879.1	NP_001269808.1:p.(Val195Ile)	NC_000022.10:g.22989731G>A	(Likely) benign	1 lab	59ee82b258
10:75871669 VCL G>A	10	75871669	75871669	G	A	VCL	c.2748G>A	NM_014000.3	NP_054706.1:p.(Pro916=)	NC_000010.10:g.75871669G>A	(Likely) benign	1 lab	59efcc3584
15:45433239 DUOX1 C>T	15	45433239	45433239	C	T	DUOX1	c.1536C>T	NM_017434.5	NP_059130.2:p.(Asp512=)	NC_000015.9:g.45433239C>T	(Likely) benign	1 lab	59efe08f72
12:125270954 SCARB1 C>T	12	125270954	125270954	C	T	SCARB1	c.1350G>A	NM_005505.5	NP_005496.4:p.(Ala450=)	NC_000012.11:g.125270954C>T	(Likely) benign	1 lab	59f058c769
16:3432717 MISSING Ref too long to show for this DEL>T	16	3432717	3498638	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.3432718_3498638del	VUS	1 lab	59f12a5ce8
16:67974017 LCAT C>T	16	67974017	67974017	C	T	LCAT	c.1113G>A	NM_000229.2	NP_000220.1:p.(Thr371=)	NC_000016.9:g.67974017C>T	(Likely) benign	1 lab	59f2fa598e
19:17397491 ANKLE1 G>T	19	17397491	17397491	G	T	ANKLE1	c.1761G>T	NM_001278444.2	NP_001265373.2:p.(Val587=)	NC_000019.9:g.17397491G>T	(Likely) benign	1 lab	59f4163a1c
12:2789571 CACNA1C C>T	12	2789571	2789571	C	T	CACNA1C	c.5454C>T	NM_001167625.2	NP_001161097.1:p.(Pro1818=)	NC_000012.11:g.2789571C>T	(Likely) benign	1 lab	59f6dbe1bd
2:21229503 APOB T>C	2	21229503	21229503	T	C	APOB	c.10237A>G	NM_000384.3	NP_000375.3:p.(Thr3413Ala)	NC_000002.11:g.21229503T>C	(Likely) benign	1 lab	59f7c576a8
14:81610310 TSHR C>T	14	81610310	81610310	C	T	TSHR	c.1908C>T	NM_000369.5	NP_000360.2:p.(Cys636=)	NC_000014.8:g.81610310C>T	(Likely) benign	1 lab	59f954f14c
14:102471206 DYNC1H1 G>A	14	102471206	102471206	G	A	DYNC1H1	c.5157G>A	NM_001376.5	NP_001367.2:p.(Glu1719=)	NC_000014.8:g.102471206G>A	(Likely) benign	1 lab	59f996a0ce
16:28878223 SH2B1 C>T	16	28878223	28878223	C	T	SH2B1	c.808C>T	NM_015503.3	NP_056318.2:p.(Arg270Trp)	NC_000016.9:g.28878223C>T	(Likely) benign	1 lab	59fba06023
12:88500547 CEP290 G>A	12	88500547	88500547	G	A	CEP290	c.2722C>T	NM_025114.4	NP_079390.3:p.(Arg908Ter)	NC_000012.11:g.88500547G>A	(Likely) pathogenic	1 lab	59fbc7354b
2:170103324 LRP2 G>A	2	170103324	170103324	G	A	LRP2	c.3081C>T	NM_004525.3	NP_004516.2:p.(Gly1027=)	NC_000002.11:g.170103324G>A	(Likely) benign	1 lab	59fe84663f
22:44028017 MISSING G>Alt too long to show for this DUP	22	44028017	44243203	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.44028019_44243203dup	VUS	1 lab	59ff71f301
1:94497499 ABCA4 G>A	1	94497499	94497499	G	A	ABCA4	c.3963C>T	NM_000350.3	NP_000341.2:p.(Ser1321=)	NC_000001.10:g.94497499G>A	(Likely) benign	1 lab	59ffda4104
11:47433884 SLC39A13 C>T	11	47433884	47433884	C	T	SLC39A13	c.416-13C>T	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47433884C>T	(Likely) benign	1 lab	5a01ad2d80
4:106291991 PPA2 T>C	4	106291991	106291991	T	C	PPA2	c.976+3A>G	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106291991T>C	VUS	1 lab	5a01ec7b08
11:116661423 APOA5 C>T	11	116661423	116661423	C	T	APOA5	c.522G>A	NM_052968.5	NP_443200.2:p.(Gln174=)	NC_000011.9:g.116661423C>T	(Likely) benign	1 lab	5a08da0f65
2:179544684 TTN A>ACTT	2	179544684	179544687	A	ACTT	TTN	c.33516_33517insAAG	NM_001267550.2	NP_001254479.2:p.(Glu11172_Tyr11173insLys)	NC_000002.11:g.179544686_179544687insTCT	(Likely) benign	1 lab	5a0a3b3625
15:73614933 HCN4 C>G	15	73614933	73614933	C	G	HCN4	c.3501G>C	NM_005477.3	NP_005468.1:p.(Leu1167Phe)	NC_000015.9:g.73614933C>G	VUS	1 lab	5a0c03b161
12:122247866 SETD1B G>C	12	122247866	122247866	G	C	SETD1B	c.1015G>C	NM_001353345.2	NP_001340274.1:p.(Val339Leu)	NC_000012.11:g.122247866G>C	(Likely) benign	1 lab	5a0dab6a06
2:200213486 SATB2 C>T	2	200213486	200213486	C	T	SATB2	c.1111G>A	NM_001172509.2	NP_001165980.1:p.(Glu371Lys)	NC_000002.11:g.200213486C>T	VUS	1 lab	5a0e238373
16:1003985 LMF1 ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC>A	16	1003985	1004060	ACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	A	LMF1	c.503+334_503+371del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004023_1004060del	(Likely) benign	1 lab	5a13922b69
22:50658460 TUBGCP6 T>C	22	50658460	50658460	T	C	TUBGCP6	c.4109-16A>G	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50658460T>C	(Likely) benign	1 lab	5a1be29a60
2:136156929 ZRANB3 Ref too long to show for this DEL>G	2	136156929	136197232	Ref too long to show for this DEL	G	ZRANB3	c.162-48842_162-8540del	NM_032143.4	NP_115519.2:p.?	NC_000002.11:g.136156930_136197232del	VUS	1 lab	5a1f0d007b
5:1414797 SLC6A3 G>A	5	1414797	1414797	G	A	SLC6A3	c.1156+9C>T	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1414797G>A	(Likely) benign	1 lab	5a20aad299
14:21679660 HNRNPC T>G	14	21679660	21679660	T	G	HNRNPC	c.742A>C	NM_031314.3	NP_112604.2:p.(Asn248His)	NC_000014.8:g.21679660T>G	(Likely) benign	1 lab	5a21b6aa37
17:1629500 WDR81 C>G	17	1629500	1629500	C	G	WDR81	c.1247C>G	NM_001163809.2	NP_001157281.1:p.(Thr416Arg)	NC_000017.10:g.1629500C>G	VUS	1 lab	5a2264e125
16:49671938 ZNF423 G>A	16	49671938	49671938	G	A	ZNF423	c.945C>T	NM_001271620.2	NP_001258549.1:p.(Ser315=)	NC_000016.9:g.49671938G>A	(Likely) benign	1 lab	5a23605626
3:180337121 CCDC39 CT>C	3	180337121	180337123	CT	C	CCDC39	c.2190del	NM_181426.2	NP_852091.1:p.(Glu731AsnfsTer31)	NC_000003.11:g.180337123del	(Likely) pathogenic	1 lab	5a28b18234
19:3982364 EEF2 G>A	19	3982364	3982364	G	A	EEF2	c.671C>T	NM_001961.4	NP_001952.1:p.(Thr224Ile)	NC_000019.9:g.3982364G>A	VUS	1 lab	5a297a86aa
7:128498290 FLNC G>T	7	128498290	128498290	G	T	FLNC	c.7990+19G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498290G>T	(Likely) benign	1 lab	5a30d901ac
4:6304124 WFS1 C>T	4	6304124	6304124	C	T	WFS1	c.2602C>T	NM_006005.3	NP_005996.2:p.(Arg868Cys)	NC_000004.11:g.6304124C>T	VUS	1 lab	5a30fbb019
17:8193258 SLC25A35 C>T	17	8193258	8193258	C	T	SLC25A35	c.774G>A	NM_201520.3	NP_958928.1:p.(Ala258=)	NC_000017.10:g.8193258C>T	(Likely) benign	1 lab	5a35d1c4f5
2:21228016 APOB A>G	2	21228016	21228016	A	G	APOB	c.11724T>C	NM_000384.3	NP_000375.3:p.(Tyr3908=)	NC_000002.11:g.21228016A>G	(Likely) benign	1 lab	5a3794679b
8:59409280 CYP7A1 T>C	8	59409280	59409280	T	C	CYP7A1	c.791A>G	NM_000780.4	NP_000771.2:p.(Asn264Ser)	NC_000008.10:g.59409280T>C	VUS	1 lab	5a3887b436
7:100679782 MUC17 A>G	7	100679782	100679782	A	G	MUC17	c.5085A>G	NM_001040105.2	NP_001035194.1:p.(Ile1695Met)	NC_000007.13:g.100679782A>G	(Likely) benign	1 lab	5a3af39892
6:7556339 DSP G>A	6	7556339	7556339	G	A	DSP	c.273+286G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7556339G>A	(Likely) benign	1 lab	5a45aab2d6
1:112319784 KCND3 T>C	1	112319784	112319784	T	C	KCND3	c.1630A>G	NM_004980.5	NP_004971.2:p.(Thr544Ala)	NC_000001.10:g.112319784T>C	VUS	1 lab	5a46f4df50
19:11210970 LDLR G>A	19	11210970	11210970	G	A	LDLR	c.139G>A	NM_000527.5	NP_000518.1:p.(Asp47Asn)	NC_000019.9:g.11210970G>A	VUS	1 lab	5a48ba852f
11:22835331 MISSING T>Alt too long to show for this DUP	11	22835331	23262803	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.22835332_23262803dup	VUS	1 lab	5a4b5ad0f9
1:10386302 KIF1B G>C	1	10386302	10386302	G	C	KIF1B	c.2809G>C	NM_001365951.3	NP_001352880.1:p.(Glu937Gln)	NC_000001.10:g.10386302G>C	(Likely) benign	1 lab	5a4cabbd1a
8:10467682 RP1L1 C>T	8	10467682	10467682	C	T	RP1L1	c.3926G>A	NM_178857.6	NP_849188.4:p.(Gly1309Glu)	NC_000008.10:g.10467682C>T	(Likely) benign	1 lab	5a4d8ee048
10:112572308 RBM20 T>C	10	112572308	112572308	T	C	RBM20	c.2153T>C	NM_001134363.3	NP_001127835.2:p.(Leu718Pro)	NC_000010.10:g.112572308T>C	VUS	1 lab	5a52571d94
4:100511949 MTTP C>T	4	100511949	100511949	C	T	MTTP	c.502-443C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100511949C>T	(Likely) benign	1 lab	5a52b8501c
3:148884923 HPS3 C>T	3	148884923	148884923	C	T	HPS3	c.2692C>T	NM_032383.5	NP_115759.2:p.(Arg898Cys)	NC_000003.11:g.148884923C>T	(Likely) benign	1 lab	5a52b910e3
2:47600696 EPCAM C>A	2	47600696	47600696	C	A	EPCAM	c.171C>A	NM_002354.3	NP_002345.2:p.(Val57=)	NC_000002.11:g.47600696C>A	(Likely) benign	1 lab	5a5667e87f
2:219678754 CYP27A1 C>T	2	219678754	219678754	C	T	CYP27A1	c.1028C>T	NM_000784.4	NP_000775.1:p.(Thr343Met)	NC_000002.11:g.219678754C>T	VUS	1 lab	5a5743f889
X:153589448 FLNA G>A	X	153589448	153589448	G	A	FLNA	c.3207+228C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153589448G>A	(Likely) benign	1 lab	5a598988b2
17:1678467 SERPINF1 T>C	17	1678467	1678467	T	C	SERPINF1	c.759T>C	NM_002615.7	NP_002606.3:p.(Tyr253=)	NC_000017.10:g.1678467T>C	(Likely) benign	1 lab	5a599adf3c
4:121706201 PRDM5 A>G	4	121706201	121706201	A	G	PRDM5	c.1234T>C	NM_018699.4	NP_061169.2:p.(Leu412=)	NC_000004.11:g.121706201A>G	(Likely) benign	1 lab	5a5cc25ade
11:108205674 ATM A>G	11	108205674	108205674	A	G	ATM	c.8011-22A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108205674A>G	VUS	1 lab	5a5de377e3
9:107602678 ABCA1 G>A	9	107602678	107602678	G	A	ABCA1	c.936C>T	NM_005502.4	NP_005493.2:p.(Pro312=)	NC_000009.11:g.107602678G>A	(Likely) benign	1 lab	5a625d4533
16:47726965 MISSING T>Alt too long to show for this DUP	16	47726965	47820430	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.47726966_47820430dup	VUS	1 lab	5a627d23bd
1:180804033 XPR1 C>T	1	180804033	180804033	C	T	XPR1	c.1158C>T	NM_004736.4	NP_004727.2:p.(Phe386=)	NC_000001.10:g.180804033C>T	(Likely) benign	1 lab	5a65d97f57
9:139418724 NOTCH1 C>A	9	139418724	139418724	C	A	NOTCH1	c.141-293G>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139418724C>A	(Likely) benign	1 lab	5a6c128df5
11:68700804 IGHMBP2 C>T	11	68700804	68700804	C	T	IGHMBP2	c.1273C>T	NM_002180.3	NP_002171.2:p.(Arg425Cys)	NC_000011.9:g.68700804C>T	(Likely) pathogenic	1 lab	5a6ca6ffe8
17:6381357 PITPNM3 C>T	17	6381357	6381357	C	T	PITPNM3	c.838G>A	NM_031220.4	NP_112497.2:p.(Ala280Thr)	NC_000017.10:g.6381357C>T	(Likely) benign	1 lab	5a70247baf
2:189875374 COL3A1 T>A	2	189875374	189875374	T	A	COL3A1	c.4012T>A	NM_000090.4	NP_000081.2:p.(Phe1338Ile)	NC_000002.11:g.189875374T>A	VUS	1 lab	5a72ab58f4
14:23872018 MYH6 G>A	14	23872018	23872018	G	A	MYH6	c.899-9C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872018G>A	(Likely) benign	1 lab	5a74863bfb
7:94034224 COL1A2 C>T	7	94034224	94034224	C	T	COL1A2	c.432+20C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94034224C>T	(Likely) benign	1 lab	5a774eba6f
2:179412966 TTN-AS1 G>A	2	179412966	179412966	G	A	TTN-AS1	n.2043+5878G>A	NR_038272.1		NC_000002.11:g.179412966G>A	(Likely) benign	1 lab	5a7c4d9392
11:47368507 MYBPC3 G>C	11	47368507	47368507	G	C	MYBPC3	c.908+71C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368507G>C	(Likely) benign	1 lab	5a7d181478
15:85371090 ALPK3 G>C	15	85371090	85371090	G	C	ALPK3	c.304+254G>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85371090G>C	(Likely) benign	1 lab	5a81827156
9:107588572 ABCA1 A>G	9	107588572	107588572	A	G	ABCA1	c.2338-404T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588572A>G	(Likely) benign	1 lab	5a81fd4bf2
8:103287850 UBR5 T>TA	8	103287850	103287863	T	TA	UBR5	c.6631-4dup	NM_015902.6	NP_056986.2:p.?	NC_000008.10:g.103287863dup	(Likely) benign	1 lab	5a82e25b8b
1:7060635 CAMTA1 Ref too long to show for this DEL>C	1	7060635	7181573	Ref too long to show for this DEL	C	CAMTA1	c.235-90726_302+30142del	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7060638_7181573del	VUS	1 lab	5a882198e6
2:74598751 DCTN1 C>T	2	74598751	74598751	C	T	DCTN1	c.558G>A	NM_004082.5	NP_004073.2:p.(Pro186=)	NC_000002.11:g.74598751C>T	(Likely) benign	1 lab	5a88e7bffd
6:43581720 POLH G>C	6	43581720	43581720	G	C	POLH	c.1568G>C	NM_006502.3	NP_006493.1:p.(Ser523Thr)	NC_000006.11:g.43581720G>C	(Likely) benign	1 lab	5a8940ec14
19:11231484 LDLR A>AT	19	11231484	11231491	A	AT	LDLR	c.2140+293dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231491dup	(Likely) benign	1 lab	5a8a71d913
3:38593006 SCN5A C>T	3	38593006	38593006	C	T	SCN5A	c.4857G>A	NM_198056.3	NP_932173.1:p.(Pro1619=)	NC_000003.11:g.38593006C>T	(Likely) benign	1 lab	5a8d222ac2
16:67977919 LCAT T>A	16	67977919	67977919	T	A	LCAT	c.86A>T	NM_000229.2	NP_000220.1:p.(Asn29Ile)	NC_000016.9:g.67977919T>A	(Likely) pathogenic	1 lab	5a91925dcc
4:85625564 WDFY3 T>C	4	85625564	85625564	T	C	WDFY3	c.8369A>G	NM_014991.6	NP_055806.2:p.(Tyr2790Cys)	NC_000004.11:g.85625564T>C	(Likely) pathogenic	1 lab	5a9414d082
4:100543847 MTTP AAG>A	4	100543847	100543849	AAG	A	MTTP	c.2528_2529del	NM_000253.4	NP_000244.2:p.(Lys843IlefsTer24)	NC_000004.11:g.100543848_100543849del	VUS	1 lab	5a994e816f
1:66102128 LEPR C>T	1	66102128	66102128	C	T	LEPR	c.2928C>T	NM_002303.6	NP_002294.2:p.(Asp976=)	NC_000001.10:g.66102128C>T	(Likely) benign	1 lab	5a9ca99e5d
9:32481496 RIGI C>T	9	32481496	32481496	C	T	RIGI	c.1481-1G>A	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32481496C>T	(Likely) benign	1 lab	5a9d7ab7cb
3:39230381 XIRP1 C>T	3	39230381	39230381	C	T	XIRP1	c.556G>A	NM_194293.4	NP_919269.2:p.(Gly186Arg)	NC_000003.11:g.39230381C>T	VUS	1 lab	5aa040b78d
15:48714026 FBN1 C>A	15	48714026	48714026	C	A	FBN1	c.7570+123G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48714026C>A	(Likely) benign	1 lab	5aa44fa298
22:38369922 SOX10 G>T	22	38369922	38369922	G	T	SOX10	c.981C>A	NM_006941.4	NP_008872.1:p.(Ala327=)	NC_000022.10:g.38369922G>T	(Likely) benign	1 lab	5aa791e2c7
15:85383555 ALPK3 T>G	15	85383555	85383555	T	G	ALPK3	c.1045T>G	NM_020778.5	NP_065829.4:p.(Ser349Ala)	NC_000015.9:g.85383555T>G	VUS	1 lab	5aa9117922
2:179413037 TTN C>G	2	179413037	179413037	C	G	TTN	c.93316G>C	NM_001267550.2	NP_001254479.2:p.(Glu31106Gln)	NC_000002.11:g.179413037C>G	VUS	1 lab	5aa92fd281
10:27702085 PTCHD3 A>C	10	27702085	27702085	A	C	PTCHD3	c.1089+6T>G	NM_001034842.4	NP_001030014.2:p.?	NC_000010.10:g.27702085A>C	(Likely) benign	1 lab	5aae52384e
22:41911891 ACO2 G>A	22	41911891	41911891	G	A	ACO2	c.805G>A	NM_001098.3	NP_001089.1:p.(Gly269Arg)	NC_000022.10:g.41911891G>A	VUS	1 lab	5aaf1122e6
2:21226130 APOB T>C	2	21226130	21226130	T	C	APOB	c.12164A>G	NM_000384.3	NP_000375.3:p.(Lys4055Arg)	NC_000002.11:g.21226130T>C	(Likely) benign	1 lab	5ab3911f71
9:107571791 ABCA1 T>G	9	107571791	107571791	T	G	ABCA1	c.4230A>C	NM_005502.4	NP_005493.2:p.(Lys1410Asn)	NC_000009.11:g.107571791T>G	VUS	1 lab	5ab4779d0c
17:79516332 FAAP100 C>T	17	79516332	79516332	C	T	FAAP100	c.1303G>A	NM_025161.6	NP_079437.5:p.(Asp435Asn)	NC_000017.10:g.79516332C>T	(Likely) benign	1 lab	5ab4c8cfae
11:68133017 LRP5 C>T	11	68133017	68133017	C	T	LRP5	c.884-22C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68133017C>T	(Likely) benign	1 lab	5ab6cdabeb
5:13829653 DNAH5 A>G	5	13829653	13829653	A	G	DNAH5	c.6410T>C	NM_001369.3	NP_001360.1:p.(Leu2137Pro)	NC_000005.9:g.13829653A>G	VUS	1 lab	5abbbc3846
5:127646113 FBN2 T>A	5	127646113	127646113	T	A	FBN2	c.5075-313A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127646113T>A	(Likely) benign	1 lab	5abef1b3ca
2:179610805 TTN C>T	2	179610805	179610805	C	T	TTN	c.16322G>A	NM_133379.5	NP_596870.2:p.(Arg5441Gln)	NC_000002.11:g.179610805C>T	VUS	1 lab	5abf1a9781
8:133900827 TG T>C	8	133900827	133900827	T	C	TG	c.2761+14T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133900827T>C	(Likely) benign	1 lab	5ac2462e1c
11:2906059 CDKN1C G>A	11	2906059	2906059	G	A	CDKN1C	c.661C>T	NM_000076.2	NP_000067.1:p.(Gln221Ter)	NC_000011.9:g.2906059G>A	(Likely) pathogenic	1 lab	5ac25efe11
13:32910739 BRCA2 T>G	13	32910739	32910739	T	G	BRCA2	c.2247T>G	NM_000059.4	NP_000050.3:p.(Ser749Arg)	NC_000013.10:g.32910739T>G	(Likely) benign	1 lab	5ac3289d20
9:137654126 COL5A1 G>A	9	137654126	137654126	G	A	COL5A1	c.1989+302G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137654126G>A	(Likely) benign	1 lab	5ac3d4905a
17:73489649 TMEM94 ATCTACCCTCTCTCGGGATCTGACAGGTGGG>A	17	73489649	73489680	ATCTACCCTCTCTCGGGATCTGACAGGTGGG	A	TMEM94	c.2166_2189+6del	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73489651_73489680del	(Likely) pathogenic	1 lab	5ac468339b
7:128483938 FLNC G>C	7	128483938	128483938	G	C	FLNC	c.2900G>C	NM_001458.5	NP_001449.3:p.(Ser967Thr)	NC_000007.13:g.128483938G>C	VUS	1 lab	5ac5a2598e
8:71614662 MISSING Ref too long to show for this DEL>T	8	71614662	71768537	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.71614663_71768537del	VUS	1 lab	5ac9e1d397
19:11224592 LDLR A>G	19	11224592	11224592	A	G	LDLR	c.1586+154A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224592A>G	(Likely) benign	1 lab	5aca1ce8fa
11:108175542 ATM A>G	11	108175542	108175542	A	G	ATM	c.5637A>G	NM_000051.4	NP_000042.3:p.(Gln1879=)	NC_000011.9:g.108175542A>G	(Likely) benign	1 lab	5acadabe73
2:73613242 ALMS1 G>A	2	73613242	73613242	G	A	ALMS1	c.249G>A	NM_015120.4	NP_055935.4:p.(Ala83=)	NC_000002.11:g.73613242G>A	(Likely) benign	1 lab	5ad0685562
15:58724706 LIPC G>A	15	58724706	58724706	G	A	LIPC	c.88+387G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724706G>A	(Likely) benign	1 lab	5ad1176b50
12:122252647 SETD1B G>A	12	122252647	122252647	G	A	SETD1B	c.2526G>A	NM_001353345.2	NP_001340274.1:p.(Pro842=)	NC_000012.11:g.122252647G>A	(Likely) benign	1 lab	5ad8fd6556
21:47541471 COL6A2 GA>G	21	47541471	47541472	GA	G	COL6A2	c.1461del	NM_058175.3	NP_478055.2:p.(Ser488LeufsTer57)	NC_000021.8:g.47541472del	(Likely) pathogenic	1 lab	5ad97fc725
15:45445692 DUOX1 ATGTGTGTGTGTGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTGTGTGTGTGTG	A	DUOX1	c.3524+49_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445726_45445745del	(Likely) benign	1 lab	5ad9983745
7:100403131 EPHB4 C>A	7	100403131	100403131	C	A	EPHB4	c.2670G>T	NM_004444.5	NP_004435.3:p.(Glu890Asp)	NC_000007.13:g.100403131C>A	(Likely) benign	1 lab	5adc3b6dc9
2:179438147 TTN A>C	2	179438147	179438147	A	C	TTN	c.65008T>G	NM_133378.4	NP_596869.4:p.(Ser21670Ala)	NC_000002.11:g.179438147A>C	VUS	1 lab	5add2f004b
12:21331491 SLCO1B1 C>T	12	21331491	21331491	C	T	SLCO1B1	c.482-19C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331491C>T	(Likely) benign	1 lab	5adea89f65
17:1554112 PRPF8 T>A	17	1554112	1554112	T	A	PRPF8	c.6992A>T	NM_006445.4	NP_006436.3:p.(Glu2331Val)	NC_000017.10:g.1554112T>A	VUS	1 lab	5ae1701744
17:41215899 BRCA1 C>T	17	41215899	41215899	C	T	BRCA1	c.5144G>A	NM_007294.4	NP_009225.1:p.(Ser1715Asn)	NC_000017.10:g.41215899C>T	(Likely) pathogenic	1 lab	5ae21b8d36
2:179495742 TTN C>A	2	179495742	179495742	C	A	TTN	c.44014+19G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179495742C>A	(Likely) benign	1 lab	5ae48be841
19:51535943 MISSING Ref too long to show for this DEL>T	19	51535943	51562065	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.51535944_51562065del	VUS	1 lab	5ae4d0c0ca
3:148847668 HPS3 A>G	3	148847668	148847668	A	G	HPS3	c.158A>G	NM_032383.5	NP_115759.2:p.(Gln53Arg)	NC_000003.11:g.148847668A>G	(Likely) benign	1 lab	5ae8a8deba
11:46727181 ZNF408 C>A	11	46727181	46727181	C	A	ZNF408	c.1931C>A	NM_024741.3	NP_079017.1:p.(Ala644Asp)	NC_000011.9:g.46727181C>A	VUS	1 lab	5aec91a1bd
X:109366615 MISSING Ref too long to show for this DEL>G	X	109366615	109444336	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.109366617_109444336del	(Likely) pathogenic	1 lab	5aec9219b3
11:47358056 MYBPC3 A>C	11	47358056	47358056	A	C	MYBPC3	c.2603-494T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358056A>C	(Likely) benign	1 lab	5aecb41ac5
10:69966605 MYPN G>C	10	69966605	69966605	G	C	MYPN	c.3738G>C	NM_032578.4	NP_115967.2:p.(Leu1246Phe)	NC_000010.10:g.69966605G>C	VUS	1 lab	5af08c8e30
X:24483607 PDK3 T>C	X	24483607	24483607	T	C	PDK3	c.35T>C	NM_001142386.3	NP_001135858.1:p.(Val12Ala)	NC_000023.10:g.24483607T>C	VUS	1 lab	5af1ba08c7
2:225422503 CUL3 C>A	2	225422503	225422503	C	A	CUL3	c.137G>T	NM_003590.5	NP_003581.1:p.(Arg46Leu)	NC_000002.11:g.225422503C>A	VUS	1 lab	5af21ac26f
14:23859578 MYH6 G>A	14	23859578	23859578	G	A	MYH6	c.3420C>T	NM_002471.4	NP_002462.2:p.(Asp1140=)	NC_000014.8:g.23859578G>A	(Likely) benign	1 lab	5af7625563
14:50050396 RPS29 G>GA	14	50050396	50050407	G	GA	RPS29	c.162+2271dup	NM_001030001.4	NP_001025172.1:p.?	NC_000014.8:g.50050407dup	(Likely) benign	1 lab	5af9275a7c
6:73110413 RIMS1 A>G	6	73110413	73110413	A	G	RIMS1	c.5076A>G	NM_014989.6	NP_055804.2:p.(Ser1692=)	NC_000006.11:g.73110413A>G	(Likely) benign	1 lab	5af959a4e4
17:57897846 MISSING Ref too long to show for this DEL>A	17	57897846	57929221	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.57897849_57929221del	VUS	1 lab	5af9e733b2
16:81391440 GAN C>T	16	81391440	81391440	C	T	GAN	c.877C>T	NM_022041.4	NP_071324.1:p.(Arg293Ter)	NC_000016.9:g.81391440C>T	(Likely) pathogenic	1 lab	5afa2e1d55
12:21325683 SLCO1B1 T>C	12	21325683	21325683	T	C	SLCO1B1	c.184T>C	NM_006446.5	NP_006437.3:p.(Ser62Pro)	NC_000012.11:g.21325683T>C	(Likely) benign	1 lab	5afc0de7cf
5:86675602 RASA1 A>ACAC	5	86675602	86675606	A	ACAC	RASA1	c.2540_2542dup	NM_002890.3	NP_002881.1:p.(His847dup)	NC_000005.9:g.86675604_86675606dup	(Likely) pathogenic	1 lab	5b00fd588c
9:27011885 IFT74 CT>C	9	27011885	27011895	CT	C	IFT74	c.727-9del	NM_001099222.3	NP_001092692.1:p.?	NC_000009.11:g.27011895del	(Likely) benign	1 lab	5b06d4abe2
18:25757000 CDH2 G>T	18	25757000	25757000	G	T	CDH2	c.-14C>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25757000G>T	(Likely) benign	1 lab	5b07f9213e
17:29677247 NF1 A>G	17	29677247	29677247	A	G	NF1	c.7368A>G	NM_001042492.3	NP_001035957.1:p.(Lys2456=)	NC_000017.10:g.29677247A>G	(Likely) benign	1 lab	5b08755202
17:41219713 BRCA1 C>T	17	41219713	41219713	C	T	BRCA1	c.4987-1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219713C>T	(Likely) pathogenic	1 lab	5b0a6f1860
19:19630430 MISSING G>Alt too long to show for this DUP	19	19630430	19672617	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.19630431_19672617dup	VUS	1 lab	5b0af4f71a
15:85383222 ALPK3 C>T	15	85383222	85383222	C	T	ALPK3	c.712C>T	NM_020778.5	NP_065829.4:p.(Pro238Ser)	NC_000015.9:g.85383222C>T	VUS	1 lab	5b0c342f5b
X:70444286 GJB1 C>A	X	70444286	70444286	C	A	GJB1	c.729C>A	NM_000166.6	NP_000157.1:p.(Tyr243Ter)	NC_000023.10:g.70444286C>A	(Likely) pathogenic	1 lab	5b0c813013
1:228345602 GJC2 C>T	1	228345602	228345602	C	T	GJC2	c.143C>T	NM_020435.4	NP_065168.2:p.(Ser48Leu)	NC_000001.10:g.228345602C>T	(Likely) pathogenic	1 lab	5b0d0c8062
15:48752349 FBN1 T>C	15	48752349	48752349	T	C	FBN1	c.5296+94A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752349T>C	(Likely) benign	1 lab	5b0d7d97d5
2:179451857 TTN A>T	2	179451857	179451857	A	T	TTN	c.64081T>A	NM_001267550.2	NP_001254479.2:p.(Ser21361Thr)	NC_000002.11:g.179451857A>T	VUS	1 lab	5b0ef9d7a4
12:50500089 GPD1 A>G	12	50500089	50500089	A	G	GPD1	c.379A>G	NM_005276.4	NP_005267.2:p.(Asn127Asp)	NC_000012.11:g.50500089A>G	(Likely) benign	1 lab	5b11690bd9
19:50753045 MYH14 G>A	19	50753045	50753045	G	A	MYH14	c.1621G>A	NM_001145809.2	NP_001139281.1:p.(Asp541Asn)	NC_000019.9:g.50753045G>A	VUS	1 lab	5b11d19e92
6:16131260 MYLIP G>GAAAAA	6	16131260	16131279	G	GAAAAA	MYLIP	c.278+297_278+301dup	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131275_16131279dup	(Likely) benign	1 lab	5b126560d5
10:61844938 ANK3 G>C	10	61844938	61844938	G	C	ANK3	c.3822C>G	NM_020987.5	NP_066267.2:p.(Ser1274=)	NC_000010.10:g.61844938G>C	(Likely) benign	1 lab	5b12ff6fd8
7:128488989 FLNC G>A	7	128488989	128488989	G	A	FLNC	c.4880G>A	NM_001458.5	NP_001449.3:p.(Arg1627His)	NC_000007.13:g.128488989G>A	VUS	1 lab	5b16a9c6bc
15:44888998 SPG11 T>C	15	44888998	44888998	T	C	SPG11	c.4145A>G	NM_025137.4	NP_079413.3:p.(Asn1382Ser)	NC_000015.9:g.44888998T>C	(Likely) benign	1 lab	5b18608c48
19:45452133 APOC2 G>T	19	45452133	45452133	G	T	APOC2	c.215+16G>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452133G>T	(Likely) benign	1 lab	5b25f4dab6
14:74951269 NPC2 T>C	14	74951269	74951269	T	C	NPC2	c.212A>G	NM_006432.5	NP_006423.1:p.(Lys71Arg)	NC_000014.8:g.74951269T>C	VUS	1 lab	5b2a7e48f3
2:179441979 TTN G>A	2	179441979	179441979	G	A	TTN	c.69083C>T	NM_001267550.2	NP_001254479.2:p.(Thr23028Met)	NC_000002.11:g.179441979G>A	VUS	1 lab	5b2c4bbcbc
9:107645906 ABCA1 C>G	9	107645906	107645906	C	G	ABCA1	c.303-468G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645906C>G	(Likely) benign	1 lab	5b3039d222
10:75874585 VCL G>A	10	75874585	75874585	G	A	VCL	c.3186G>A	NM_014000.3	NP_054706.1:p.(Gln1062=)	NC_000010.10:g.75874585G>A	(Likely) benign	1 lab	5b31e27439
2:179578108 TTN T>TAACAA	2	179578108	179578110	T	TAACAA	TTN	c.26762-10_26762-9insTTGTT	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578109_179578110insACAAA	(Likely) benign	1 lab	5b35a6a4f9
9:35685746 TPM2 C>T	9	35685746	35685746	C	T	TPM2	c.272G>A	NM_001301227.2	NP_001288156.1:p.(Arg91His)	NC_000009.11:g.35685746C>T	VUS	1 lab	5b36dd63ca
1:236922818 ACTN2 C>G	1	236922818	236922818	C	G	ACTN2	c.2302-206C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922818C>G	(Likely) benign	1 lab	5b381cfece
3:49879374 TRAIP T>C	3	49879374	49879374	T	C	TRAIP	c.504-2A>G	NM_005879.3	NP_005870.2:p.?	NC_000003.11:g.49879374T>C	VUS	1 lab	5b3a068a86
7:150652577 KCNH2 G>A	7	150652577	150652577	G	A	KCNH2	c.15C>T	NM_172057.3	NP_742054.1:p.(Ala5=)	NC_000007.13:g.150652577G>A	(Likely) benign	1 lab	5b3c6697ee
11:47359503 MYBPC3 C>CT	11	47359503	47359522	C	CT	MYBPC3	c.2309-159dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359522dup	(Likely) benign	1 lab	5b40637300
17:14958512 MISSING G>Alt too long to show for this DUP	17	14958512	15276705	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.14958513_15276705dup	(Likely) pathogenic	1 lab	5b41a151d2
14:97322916 VRK1 C>G	14	97322916	97322916	C	G	VRK1	c.882C>G	NM_003384.3	NP_003375.1:p.(Asn294Lys)	NC_000014.8:g.97322916C>G	VUS	1 lab	5b44d9459d
6:72889454 RIMS1 G>A	6	72889454	72889454	G	A	RIMS1	c.648G>A	NM_014989.6	NP_055804.2:p.(Ser216=)	NC_000006.11:g.72889454G>A	(Likely) benign	1 lab	5b47dc06d9
17:7321007 NLGN2 A>C	17	7321007	7321007	A	C	NLGN2	c.2397A>C	NM_020795.4	NP_065846.1:p.(Pro799=)	NC_000017.10:g.7321007A>C	(Likely) benign	1 lab	5b489b9c79
6:32012997 TNXB G>A	6	32012997	32012997	G	A	TNXB	c.10707C>T	NM_019105.8	NP_061978.6:p.(Ser3569=)	NC_000006.11:g.32012997G>A	(Likely) benign	1 lab	5b48b99a39
1:26774159 DHDDS G>A	1	26774159	26774159	G	A	DHDDS	c.542+8G>A	NM_024887.4	NP_079163.2:p.?	NC_000001.10:g.26774159G>A	(Likely) benign	1 lab	5b49036960
19:50155361 SCAF1 GCCGCTC>G	19	50155361	50155392	GCCGCTC	G	SCAF1	c.1741_1746del	NM_021228.3	NP_067051.2:p.(Arg581_Ser582del)	NC_000019.9:g.50155387_50155392del	(Likely) benign	1 lab	5b493c7547
2:179401915 TTN G>A	2	179401915	179401915	G	A	TTN	c.99921C>T	NM_001267550.2	NP_001254479.2:p.(Ser33307=)	NC_000002.11:g.179401915G>A	(Likely) benign	1 lab	5b4bb0bbeb
8:57050832 MISSING G>Alt too long to show for this DUP	8	57050832	57133521	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.57050834_57133521dup	VUS	1 lab	5b4fa03da9
2:189850524 COL3A1 T>TA	2	189850524	189850530	T	TA	COL3A1	c.447+26dup	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189850530dup	(Likely) benign	1 lab	5b4fc1924d
15:65369399 KBTBD13 G>C	15	65369399	65369399	G	C	KBTBD13	c.246G>C	NM_001101362.3	NP_001094832.1:p.(Val82=)	NC_000015.9:g.65369399G>C	(Likely) benign	1 lab	5b52b47dd4
2:189858561 COL3A1 C>T	2	189858561	189858561	C	T	COL3A1	c.1150-203C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189858561C>T	(Likely) benign	1 lab	5b52c07215
16:1307050 TPSD1 C>T	16	1307050	1307050	C	T	TPSD1	c.507C>T	NM_012217.3	NP_036349.1:p.(Asp169=)	NC_000016.9:g.1307050C>T	(Likely) benign	1 lab	5b52d347a3
15:48786406 FBN1 C>T	15	48786406	48786406	C	T	FBN1	c.2723G>A	NM_000138.5	NP_000129.3:p.(Cys908Tyr)	NC_000015.9:g.48786406C>T	(Likely) pathogenic	1 lab	5b5312fcd2
2:114004391 PAX8 G>A	2	114004391	114004391	G	A	PAX8	c.131C>T	NM_003466.4	NP_003457.1:p.(Pro44Leu)	NC_000002.11:g.114004391G>A	VUS	1 lab	5b53bb0894
5:82833198 VCAN C>T	5	82833198	82833198	C	T	VCAN	c.4376C>T	NM_004385.5	NP_004376.2:p.(Thr1459Met)	NC_000005.9:g.82833198C>T	VUS	1 lab	5b53c57c83
1:55529154 PCSK9 G>T	1	55529154	55529154	G	T	PCSK9	c.1976G>T	NM_174936.4	NP_777596.2:p.(Arg659Leu)	NC_000001.10:g.55529154G>T	(Likely) pathogenic	1 lab	5b54dcba04
12:122248207 SETD1B C>T	12	122248207	122248207	C	T	SETD1B	c.1356C>T	NM_001353345.2	NP_001340274.1:p.(Pro452=)	NC_000012.11:g.122248207C>T	(Likely) benign	1 lab	5b5521d2f1
11:47359458 MYBPC3 CAGAT>C	11	47359458	47359462	CAGAT	C	MYBPC3	c.2309-117_2309-114del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359459_47359462del	(Likely) benign	1 lab	5b55eb3277
16:2498849 CCNF G>A	16	2498849	2498849	G	A	CCNF	c.1095-7G>A	NM_001761.3	NP_001752.2:p.?	NC_000016.9:g.2498849G>A	(Likely) benign	1 lab	5b5eec625a
11:2591893 KCNQ1 C>T	11	2591893	2591893	C	T	KCNQ1	c.513C>T	NM_000218.3	NP_000209.2:p.(Tyr171=)	NC_000011.9:g.2591893C>T	(Likely) benign	1 lab	5b61819191
Y:4444076 MISSING T>Alt too long to show for this DUP	Y	4444076	4837756	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.4444078_4837756dup	(Likely) pathogenic	1 lab	5b63bb9e11
11:5247599 HBB AAAAG>A	11	5247599	5247607	AAAAG	A	HBB	c.315+204_315+207del	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247604_5247607del	(Likely) pathogenic	1 lab	5b676b0b44
2:21231542 APOB A>G	2	21231542	21231542	A	G	APOB	c.8198T>C	NM_000384.3	NP_000375.3:p.(Val2733Ala)	NC_000002.11:g.21231542A>G	(Likely) benign	1 lab	5b6d5dc7ba
10:69881414 MYPN C>T	10	69881414	69881414	C	T	MYPN	c.219C>T	NM_032578.4	NP_115967.2:p.(Asp73=)	NC_000010.10:g.69881414C>T	(Likely) benign	1 lab	5b6dba1437
6:169650923 THBS2 G>C	6	169650923	169650923	G	C	THBS2	c.-22-22C>G	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169650923G>C	(Likely) benign	1 lab	5b6ed8b58f
20:10627800 JAG1 G>A	20	10627800	10627800	G	A	JAG1	c.1721-49C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10627800G>A	(Likely) benign	1 lab	5b72482ace
11:75917425 WNT11 C>T	11	75917425	75917425	C	T	WNT11	c.27G>A	NM_004626.3	NP_004617.2:p.(Glu9=)	NC_000011.9:g.75917425C>T	(Likely) benign	1 lab	5b734178d3
4:65155402 TECRL G>GAAAAGA	4	65155402	65155418	G	GAAAAGA	TECRL	c.832+20_832+25dup	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65155413_65155418dup	(Likely) benign	1 lab	5b734b184e
8:75262788 GDAP1 G>A	8	75262788	75262788	G	A	GDAP1	c.92G>A	NM_018972.4	NP_061845.2:p.(Trp31Ter)	NC_000008.10:g.75262788G>A	(Likely) pathogenic	1 lab	5b73ed09c8
7:92122372 PEX1 A>G	7	92122372	92122372	A	G	PEX1	c.2478T>C	NM_001282678.2	NP_001269607.1:p.(His826=)	NC_000007.13:g.92122372A>G	(Likely) benign	1 lab	5b75084caa
7:150644071 KCNH2 G>A	7	150644071	150644071	G	A	KCNH2	c.3224C>T	NM_000238.4	NP_000229.1:p.(Pro1075Leu)	NC_000007.13:g.150644071G>A	VUS	1 lab	5b763dc158
17:30796179 PSMD11 C>CT	17	30796179	30796180	C	CT	PSMD11	c.612dup	NM_001270482.2	NP_001257411.1:p.(Lys205Ter)	NC_000017.10:g.30796180dup	(Likely) pathogenic	1 lab	5b7a8b81d6
7:44153483 AEBP1 C>A	7	44153483	44153483	C	A	AEBP1	c.3100C>A	NM_001129.5	NP_001120.3:p.(Arg1034=)	NC_000007.13:g.44153483C>A	(Likely) benign	1 lab	5b7be4ff55
2:179399120 TTN C>T	2	179399120	179399120	C	T	TTN	c.102222G>A	NM_001267550.2	NP_001254479.2:p.(Lys34074=)	NC_000002.11:g.179399120C>T	(Likely) benign	1 lab	5b7e10420f
6:137325901 IL20RA T>TAA	6	137325901	137325916	T	TAA	IL20RA	c.725-6_725-5dup	NM_014432.3	NP_055247.3:p.?	NC_000006.11:g.137325915_137325916dup	(Likely) benign	1 lab	5b81c390b5
3:40503520 RPL14 A>ACTGCTGCTGCTGCTG	3	40503520	40503552	A	ACTGCTGCTGCTGCTG	RPL14	c.463_477dup	NM_001034996.3	NP_001030168.1:p.(Ala155_Ala159dup)	NC_000003.11:g.40503538_40503552dup	(Likely) benign	1 lab	5b81c391d9
2:48026493 MSH6 C>A	2	48026493	48026493	C	A	MSH6	c.1371C>A	NM_000179.3	NP_000170.1:p.(Ala457=)	NC_000002.11:g.48026493C>A	(Likely) benign	1 lab	5b83c49b12
6:7584307 DSP A>C	6	7584307	7584307	A	C	DSP	c.6812A>C	NM_004415.4	NP_004406.2:p.(Lys2271Thr)	NC_000006.11:g.7584307A>C	VUS	1 lab	5b8d7e1489
2:1664746 PXDN T>C	2	1664746	1664746	T	C	PXDN	c.1744A>G	NM_012293.3	NP_036425.1:p.(Asn582Asp)	NC_000002.11:g.1664746T>C	VUS	1 lab	5b8de13b55
7:154379789 DPP6 G>A	7	154379789	154379789	G	A	DPP6	c.1057G>A	NM_001290253.2	NP_001277182.1:p.(Glu353Lys)	NC_000007.13:g.154379789G>A	(Likely) benign	1 lab	5b91d7a163
16:57282485 ARL2BP A>G	16	57282485	57282485	A	G	ARL2BP	c.137A>G	NM_012106.4	NP_036238.1:p.(Asp46Gly)	NC_000016.9:g.57282485A>G	VUS	1 lab	5b920b03b8
3:193094527 MISSING Ref too long to show for this DEL>A	3	193094527	193424529	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.193094528_193424529del	(Likely) pathogenic	1 lab	5b94484eed
1:12056234 MFN2 C>T	1	12056234	12056234	C	T	MFN2	c.333C>T	NM_014874.4	NP_055689.1:p.(Thr111=)	NC_000001.10:g.12056234C>T	(Likely) benign	1 lab	5b947ea09d
2:1696817 PXDN T>C	2	1696817	1696817	T	C	PXDN	c.272+18A>G	NM_012293.3	NP_036425.1:p.?	NC_000002.11:g.1696817T>C	(Likely) benign	1 lab	5b9495089b
4:84406186 ABRAXAS1 C>A	4	84406186	84406186	C	A	ABRAXAS1	c.40G>T	NM_139076.3	NP_620775.2:p.(Val14Leu)	NC_000004.11:g.84406186C>A	VUS	1 lab	5b95ab980d
2:73650121 ALMS1 A>AAGTAACCTTTCTCACTTCT	2	73650121	73650122	A	AAGTAACCTTTCTCACTTCT	ALMS1	c.767+19_767+20insAGTAACCTTTCTCACTTCT	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73650121_73650122insAGTAACCTTTCTCACTTCT	(Likely) benign	1 lab	5b9666e177
7:30671863 GARS1 C>T	7	30671863	30671863	C	T	GARS1	c.1904C>T	NM_002047.4	NP_002038.2:p.(Ser635Leu)	NC_000007.13:g.30671863C>T	(Likely) pathogenic	1 lab	5b9a524842
2:121747433 GLI2 C>T	2	121747433	121747433	C	T	GLI2	c.3943C>T	NM_001371271.1	NP_001358200.1:p.(Pro1315Ser)	NC_000002.11:g.121747433C>T	(Likely) benign	1 lab	5b9a862f9a
6:133061088 MISSING Ref too long to show for this DEL>G	6	133061088	133070366	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.133061091_133070366del	VUS	1 lab	5b9fa2bdfb
6:70965107 COL9A1 A>T	6	70965107	70965107	A	T	COL9A1	c.1504-14T>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70965107A>T	(Likely) benign	1 lab	5ba00831db
6:56765341 DST C>T	6	56765341	56765341	C	T	DST	c.295G>A	NM_001144769.5	NP_001138241.1:p.(Val99Met)	NC_000006.11:g.56765341C>T	(Likely) benign	1 lab	5ba21ac384
2:228566967 SLC19A3 C>A	2	228566967	228566967	C	A	SLC19A3	c.68G>T	NM_025243.4	NP_079519.1:p.(Gly23Val)	NC_000002.11:g.228566967C>A	(Likely) pathogenic	1 lab	5ba2a63792
17:41209170 BRCA1 C>A	17	41209170	41209170	C	A	BRCA1	c.5194-18G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41209170C>A	(Likely) benign	1 lab	5ba2f19062
19:50919999 POLD1 T>C	19	50919999	50919999	T	C	POLD1	c.3067+19T>C	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50919999T>C	(Likely) benign	1 lab	5ba33bfdd4
1:989259 AGRN G>A	1	989259	989259	G	A	AGRN	c.5847G>A	NM_001305275.2	NP_001292204.1:p.(Gly1949=)	NC_000001.10:g.989259G>A	VUS	1 lab	5ba35af179
7:40041559 CDK13 A>C	7	40041559	40041559	A	C	CDK13	c.2282A>C	NM_003718.5	NP_003709.3:p.(His761Pro)	NC_000007.13:g.40041559A>C	VUS	1 lab	5ba35f63d5
2:189875938 COL3A1 T>C	2	189875938	189875938	T	C	COL3A1	c.4254+322T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189875938T>C	(Likely) benign	1 lab	5ba55ead13
9:107581028 ABCA1 G>A	9	107581028	107581028	G	A	ABCA1	c.3378C>T	NM_005502.4	NP_005493.2:p.(Tyr1126=)	NC_000009.11:g.107581028G>A	(Likely) benign	1 lab	5ba63a4b63
4:100504575 MTTP G>C	4	100504575	100504575	G	C	MTTP	c.294G>C	NM_000253.4	NP_000244.2:p.(Glu98Asp)	NC_000004.11:g.100504575G>C	(Likely) benign	1 lab	5bab0ea066
2:179452261 TTN C>T	2	179452261	179452261	C	T	TTN	c.56071G>A	NM_133378.4	NP_596869.4:p.(Val18691Ile)	NC_000002.11:g.179452261C>T	VUS	1 lab	5bab480c08
19:11218192 LDLR T>A	19	11218192	11218192	T	A	LDLR	c.940+2T>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218192T>A	(Likely) pathogenic	1 lab	5bac13dc21
1:94483995 ABCA4 T>C	1	94483995	94483995	T	C	ABCA4	c.5196+1143A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94483995T>C	(Likely) benign	1 lab	5be67f866e
17:10545584 MYH3 G>A	17	10545584	10545584	G	A	MYH3	c.1932C>T	NM_002470.4	NP_002461.2:p.(Ser644=)	NC_000017.10:g.10545584G>A	(Likely) benign	1 lab	5bad94892e
7:130417994 MISSING Ref too long to show for this DEL>T	7	130417994	130425754	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.130417995_130425754del	VUS	1 lab	5bb2e8ce0e
14:81609925 TSHR C>T	14	81609925	81609925	C	T	TSHR	c.1523C>T	NM_000369.5	NP_000360.2:p.(Ser508Leu)	NC_000014.8:g.81609925C>T	VUS	1 lab	5bb3805f98
9:107576714 ABCA1 T>TC	9	107576714	107576715	T	TC	ABCA1	c.3780dup	NM_005502.4	NP_005493.2:p.(Thr1261AspfsTer27)	NC_000009.11:g.107576715dup	(Likely) pathogenic	1 lab	5bb7a770b3
9:139324761 INPP5E G>A	9	139324761	139324761	G	A	INPP5E	c.1770C>T	NM_019892.6	NP_063945.2:p.(Leu590=)	NC_000009.11:g.139324761G>A	(Likely) benign	1 lab	5bb9c8f5bf
2:21231082 APOB G>A	2	21231082	21231082	G	A	APOB	c.8658C>T	NM_000384.3	NP_000375.3:p.(Asn2886=)	NC_000002.11:g.21231082G>A	(Likely) benign	1 lab	5bba29ff2f
3:97480001 MISSING Ref too long to show for this DEL>G	3	97480001	97636739	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.97480005_97636739del	VUS	1 lab	5bbe201c3a
X:129267367 AIFM1 G>A	X	129267367	129267367	G	A	AIFM1	c.1369C>T	NM_004208.4	NP_004199.1:p.(His457Tyr)	NC_000023.10:g.129267367G>A	(Likely) pathogenic	1 lab	5bbfcc2c92
1:114377561 PTPN22 G>C	1	114377561	114377561	G	C	PTPN22	c.1865C>G	NM_015967.7	NP_057051.3:p.(Pro622Arg)	NC_000001.10:g.114377561G>C	VUS	1 lab	5bc121344e
16:15812221 MYH11 T>G	16	15812221	15812221	T	G	MYH11	c.5267A>C	NM_001040113.2	NP_001035202.1:p.(Gln1756Pro)	NC_000016.9:g.15812221T>G	VUS	1 lab	5bc2813cf3
3:8775548 CAV3 C>A	3	8775548	8775548	C	A	CAV3	c.-15C>A	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8775548C>A	(Likely) benign	1 lab	5bc40d5e1d
8:19811608 LPL T>A	8	19811608	19811608	T	A	LPL	c.542-23T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811608T>A	(Likely) benign	1 lab	5bc45c257e
7:150656809 KCNH2 CAT>C	7	150656809	150656812	CAT	C	KCNH2	c.321_322del	NM_000238.4	NP_000229.1:p.(Cys108SerfsTer36)	NC_000007.13:g.150656811_150656812del	(Likely) pathogenic	1 lab	5bc8ded2b9
8:68084791 CSPP1 G>T	8	68084791	68084791	G	T	CSPP1	c.2887+1G>T	NM_001363131.2	NP_001350060.1:p.?	NC_000008.10:g.68084791G>T	(Likely) pathogenic	1 lab	5bcd174b0c
9:32543309 TOPORS T>C	9	32543309	32543309	T	C	TOPORS	c.1214A>G	NM_005802.5	NP_005793.2:p.(Asp405Gly)	NC_000009.11:g.32543309T>C	VUS	1 lab	5bcfdc14e5
2:44098826 ABCG8 G>T	2	44098826	44098826	G	T	ABCG8	c.965-289G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44098826G>T	(Likely) benign	1 lab	5bd2ecbad2
12:21325949 SLCO1B1 A>G	12	21325949	21325949	A	G	SLCO1B1	c.226+224A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325949A>G	(Likely) benign	1 lab	5bd5f20e97
9:113221247 SVEP1 T>C	9	113221247	113221247	T	C	SVEP1	c.3469A>G	NM_153366.4	NP_699197.3:p.(Ile1157Val)	NC_000009.11:g.113221247T>C	(Likely) benign	1 lab	5bd9833cc2
12:118199088 KSR2 G>C	12	118199088	118199088	G	C	KSR2	c.714C>G	NM_173598.6	NP_775869.4:p.(Pro238=)	NC_000012.11:g.118199088G>C	(Likely) benign	1 lab	5bdbc5778f
17:36484004 GPR179 C>G	17	36484004	36484004	C	G	GPR179	c.5448G>C	NM_001004334.4	NP_001004334.3:p.(Lys1816Asn)	NC_000017.10:g.36484004C>G	VUS	1 lab	5bde1af0d2
3:160142810 SMC4 ATG>A	3	160142810	160142841	ATG	A	SMC4	c.2478+33_2478+34del	NM_005496.3	NP_005487.3:p.?	NC_000003.11:g.160142840_160142841del	(Likely) benign	1 lab	5be1782065
4:36309976 DTHD1 G>A	4	36309976	36309976	G	A	DTHD1	c.1956G>A	NM_001170700.3	NP_001164171.2:p.(Val652=)	NC_000004.11:g.36309976G>A	(Likely) benign	1 lab	5be308a4d8
X:44918638 KDM6A G>C	X	44918638	44918638	G	C	KDM6A	c.1121G>C	NM_001291415.2	NP_001278344.1:p.(Cys374Ser)	NC_000023.10:g.44918638G>C	VUS	1 lab	5bea224608
18:47107909 LIPG G>C	18	47107909	47107909	G	C	LIPG	c.918G>C	NM_006033.4	NP_006024.1:p.(Gly306=)	NC_000018.9:g.47107909G>C	(Likely) benign	1 lab	5bebd544c4
4:120072049 MYOZ2 C>A	4	120072049	120072049	C	A	MYOZ2	c.99C>A	NM_016599.5	NP_057683.1:p.(Gly33=)	NC_000004.11:g.120072049C>A	(Likely) benign	1 lab	5bec27ff23
2:48018171 MSH6 G>A	2	48018171	48018171	G	A	MSH6	c.366G>A	NM_000179.3	NP_000170.1:p.(Glu122=)	NC_000002.11:g.48018171G>A	(Likely) benign	1 lab	5befda5666
14:60976290 SIX6 C>T	14	60976290	60976290	C	T	SIX6	c.174C>T	NM_007374.3	NP_031400.2:p.(Ala58=)	NC_000014.8:g.60976290C>T	(Likely) benign	1 lab	5bf0f13d02
2:219677441 CYP27A1 C>T	2	219677441	219677441	C	T	CYP27A1	c.813C>T	NM_000784.4	NP_000775.1:p.(Tyr271=)	NC_000002.11:g.219677441C>T	(Likely) benign	1 lab	5bf142c309
17:42082213 NAGS A>G	17	42082213	42082213	A	G	NAGS	c.182A>G	NM_153006.3	NP_694551.1:p.(Glu61Gly)	NC_000017.10:g.42082213A>G	(Likely) benign	1 lab	5bf34cbef6
6:32041491 TNXB A>G	6	32041491	32041491	A	G	TNXB	c.4614T>C	NM_019105.8	NP_061978.6:p.(Tyr1538=)	NC_000006.11:g.32041491A>G	(Likely) benign	1 lab	5bf476bc60
2:198266713 SF3B1 C>T	2	198266713	198266713	C	T	SF3B1	c.2219G>A	NM_012433.4	NP_036565.2:p.(Gly740Glu)	NC_000002.11:g.198266713C>T	VUS	1 lab	5bf527152f
7:40140614 MISSING A>Alt too long to show for this DUP	7	40140614	40280323	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.40140617_40280323dup	VUS	1 lab	5bf6ee04fb
12:13724865 GRIN2B G>A	12	13724865	13724865	G	A	GRIN2B	c.2044C>T	NM_000834.5	NP_000825.2:p.(Arg682Cys)	NC_000012.11:g.13724865G>A	(Likely) pathogenic	1 lab	5bfca54c1d
17:39274437 KRTAP4-11 C>T	17	39274437	39274437	C	T	KRTAP4-11	c.131G>A	NM_033059.4	NP_149048.2:p.(Cys44Tyr)	NC_000017.10:g.39274437C>T	(Likely) benign	1 lab	5bfd1d3de3
7:107746432 LAMB4 G>A	7	107746432	107746432	G	A	LAMB4	c.700C>T	NM_007356.3	NP_031382.2:p.(His234Tyr)	NC_000007.13:g.107746432G>A	(Likely) benign	1 lab	5bfe38d318
2:44507913 MISSING Ref too long to show for this DEL>T	2	44507913	44577643	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.44507915_44577643del	VUS	1 lab	5bff6e8430
12:125294827 SCARB1 G>A	12	125294827	125294827	G	A	SCARB1	c.735C>T	NM_001367981.1	NP_001354910.1:p.(Phe245=)	NC_000012.11:g.125294827G>A	(Likely) benign	1 lab	5c006e3aa5
18:19423096 MIB1 A>C	18	19423096	19423096	A	C	MIB1	c.1967A>C	NM_020774.4	NP_065825.1:p.(Asn656Thr)	NC_000018.9:g.19423096A>C	VUS	1 lab	5c01db7455
2:85768075 MAT2A TA>T	2	85768075	85768077	TA	T	MAT2A	c.92-129del	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85768077del	(Likely) benign	1 lab	5c064a01d1
X:57936795 ZXDA ACCG>A	X	57936795	57936812	ACCG	A	ZXDA	c.57_59del	NM_007156.5	NP_009087.1:p.(Gly20del)	NC_000023.10:g.57936810_57936812del	(Likely) benign	1 lab	5c06d4eb41
1:94487354 ABCA4 G>A	1	94487354	94487354	G	A	ABCA4	c.4773+48C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94487354G>A	(Likely) benign	1 lab	5c08293889
21:47482209 MISSING Ref too long to show for this DEL>C	21	47482209	47530329	Ref too long to show for this DEL	C	MISSING				NC_000021.8:g.47482210_47530329del	VUS	1 lab	5c0ac845c5
10:47087186 NPY4R G>A	10	47087186	47087186	G	A	NPY4R	c.403G>A	NM_005972.6	NP_005963.4:p.(Val135Met)	NC_000010.10:g.47087186G>A	(Likely) benign	1 lab	5c0d7174ee
1:31441312 PUM1 G>C	1	31441312	31441312	G	C	PUM1	c.1534C>G	NM_001020658.2	NP_001018494.1:p.(Pro512Ala)	NC_000001.10:g.31441312G>C	VUS	1 lab	5c12492a47
22:31342376 MORC2 G>C	22	31342376	31342376	G	C	MORC2	c.192C>G	NM_014941.3	NP_055756.1:p.(Thr64=)	NC_000022.10:g.31342376G>C	(Likely) benign	1 lab	5c147f0de1
X:73740924 SLC16A2 G>A	X	73740924	73740924	G	A	SLC16A2	c.530G>A	NM_006517.5	NP_006508.2:p.(Gly177Glu)	NC_000023.10:g.73740924G>A	VUS	1 lab	5c19671184
15:93486153 CHD2 G>A	15	93486153	93486153	G	A	CHD2	c.907G>A	NM_001271.4	NP_001262.3:p.(Gly303Ser)	NC_000015.9:g.93486153G>A	(Likely) benign	1 lab	5c198152ff
X:70443629 GJB1 G>T	X	70443629	70443629	G	T	GJB1	c.72G>T	NM_000166.6	NP_000157.1:p.(Trp24Cys)	NC_000023.10:g.70443629G>T	(Likely) pathogenic	1 lab	5c2330795e
18:25589767 CDH2 G>C	18	25589767	25589767	G	C	CDH2	c.616C>G	NM_001792.5	NP_001783.2:p.(Pro206Ala)	NC_000018.9:g.25589767G>C	VUS	1 lab	5c23bab42a
19:41928086 BCKDHA G>A	19	41928086	41928086	G	A	BCKDHA	c.664G>A	NM_000709.4	NP_000700.1:p.(Ala222Thr)	NC_000019.9:g.41928086G>A	VUS	1 lab	5c2529144c
11:105790588 MISSING Ref too long to show for this DEL>A	11	105790588	111922728	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.105790589_111922728del	(Likely) pathogenic	1 lab	5c2940e57e
10:68953832 CTNNA3 T>Alt too long to show for this DUP	10	68953832	69127837	T	Alt too long to show for this DUP	CTNNA3	c.580-148208_844-13555dup	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68953834_69127837dup	VUS	1 lab	5c2a8bfedc
22:50657118 TUBGCP6 G>A	22	50657118	50657118	G	A	TUBGCP6	c.4821+14C>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50657118G>A	(Likely) benign	1 lab	5c2fcbf39a
2:170677622 METTL5 A>G	2	170677622	170677622	A	G	METTL5	c.386T>C	NM_014168.4	NP_054887.2:p.(Phe129Ser)	NC_000002.11:g.170677622A>G	VUS	1 lab	5c316d0be0
9:107591398 ABCA1 C>T	9	107591398	107591398	C	T	ABCA1	c.1914G>A	NM_005502.4	NP_005493.2:p.(Arg638=)	NC_000009.11:g.107591398C>T	(Likely) benign	1 lab	5c341ffd8c
6:121768409 GJA1 T>C	6	121768409	121768409	T	C	GJA1	c.416T>C	NM_000165.5	NP_000156.1:p.(Ile139Thr)	NC_000006.11:g.121768409T>C	(Likely) pathogenic	1 lab	5c34ff9968
X:73641595 SLC16A2 C>T	X	73641595	73641595	C	T	SLC16A2	c.123C>T	NM_006517.5	NP_006508.2:p.(Pro41=)	NC_000023.10:g.73641595C>T	(Likely) benign	1 lab	5c38bf7d76
14:100921933 WDR25 Ref too long to show for this DEL>C	14	100921933	100998551	Ref too long to show for this DEL	C	WDR25				NC_000014.8:g.100921934_100998551del	VUS	1 lab	5c39f9681c
17:57897908 MISSING Ref too long to show for this DEL>A	17	57897908	57929576	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.57897910_57929576del	VUS	1 lab	5c3f38e1e1
22:26868324 HPS4 T>C	22	26868324	26868324	T	C	HPS4	c.445A>G	NM_022081.6	NP_071364.4:p.(Asn149Asp)	NC_000022.10:g.26868324T>C	VUS	1 lab	5c42517c87
1:74808574 TNNI3K G>A	1	74808574	74808574	G	A	TNNI3K	c.731G>A	NM_015978.3	NP_057062.1:p.(Arg244Gln)	NC_000001.10:g.74808574G>A	VUS	1 lab	5c4376147e
X:132887780 GPC3 C>A	X	132887780	132887780	C	A	GPC3	c.761G>T	NM_001164617.2	NP_001158089.1:p.(Arg254Leu)	NC_000023.10:g.132887780C>A	VUS	1 lab	5c4377fc37
1:55529222 PCSK9 C>T	1	55529222	55529222	C	T	PCSK9	c.2044C>T	NM_174936.4	NP_777596.2:p.(Arg682Trp)	NC_000001.10:g.55529222C>T	VUS	1 lab	5c4961da81
11:116661230 APOA5 C>A	11	116661230	116661230	C	A	APOA5	c.715G>T	NM_052968.5	NP_443200.2:p.(Ala239Ser)	NC_000011.9:g.116661230C>A	VUS	1 lab	5c498b7a5b
8:59405068 CYP7A1 C>G	8	59405068	59405068	C	G	CYP7A1	c.1059G>C	NM_000780.4	NP_000771.2:p.(Ser353=)	NC_000008.10:g.59405068C>G	(Likely) benign	1 lab	5c49aff71d
10:88441365 LDB3 G>A	10	88441365	88441365	G	A	LDB3	c.494G>A	NM_001171610.2	NP_001165081.1:p.(Arg165Gln)	NC_000010.10:g.88441365G>A	VUS	1 lab	5c49cbbbb0
12:48367986 COL2A1 G>A	12	48367986	48367986	G	A	COL2A1	c.4203C>T	NM_001844.5	NP_001835.3:p.(Asp1401=)	NC_000012.11:g.48367986G>A	(Likely) benign	1 lab	5c4bdb8a9b
2:179585240 TTN ATTTT>A	2	179585240	179585244	ATTTT	A	TTN	c.23245_23248del	NM_001267550.2	NP_001254479.2:p.(Lys7749SerfsTer49)	NC_000002.11:g.179585241_179585244del	(Likely) benign	1 lab	5c4c4fc353
1:16354435 MISSING Ref too long to show for this DEL>A	1	16354435	16374508	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.16354439_16374508del	VUS	1 lab	5c4ef150a2
2:21225850 APOB G>T	2	21225850	21225850	G	T	APOB	c.12444C>A	NM_000384.3	NP_000375.3:p.(Ala4148=)	NC_000002.11:g.21225850G>T	VUS	1 lab	5c5054098d
20:45357687 SLC2A10 A>G	20	45357687	45357687	A	G	SLC2A10	c.1412-305A>G	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45357687A>G	(Likely) benign	1 lab	5c53f19977
15:44858469 SPG11 T>C	15	44858469	44858469	T	C	SPG11	c.6789A>G	NM_025137.4	NP_079413.3:p.(Gln2263=)	NC_000015.9:g.44858469T>C	(Likely) benign	1 lab	5c5652195d
16:920711 LMF1 G>C	16	920711	920711	G	C	LMF1	c.833+18C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920711G>C	(Likely) benign	1 lab	5c59f7dc9e
1:236912514 ACTN2 A>G	1	236912514	236912514	A	G	ACTN2	c.982A>G	NM_001278344.2	NP_001265273.1:p.(Met328Val)	NC_000001.10:g.236912514A>G	VUS	1 lab	5c5ab1484e
1:25880119 LDLRAP1 G>C	1	25880119	25880119	G	C	LDLRAP1	c.89-294G>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880119G>C	(Likely) benign	1 lab	5c5b22a315
5:149460527 CSF1R G>A	5	149460527	149460527	G	A	CSF1R	c.110C>T	NM_005211.4	NP_005202.2:p.(Thr37Met)	NC_000005.9:g.149460527G>A	(Likely) benign	1 lab	5c5c5b4c78
12:33031127 PKP2 G>A	12	33031127	33031127	G	A	PKP2	c.687C>T	NM_004572.4	NP_004563.2:p.(Thr229=)	NC_000012.11:g.33031127G>A	(Likely) benign	1 lab	5c5c5fd823
14:75514840 MLH3 T>C	14	75514840	75514840	T	C	MLH3	c.1519A>G	NM_001040108.2	NP_001035197.1:p.(Met507Val)	NC_000014.8:g.75514840T>C	VUS	1 lab	5c5df8d05a
10:129657366 MISSING Ref too long to show for this DEL>T	10	129657366	129930977	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.129657368_129930977del	VUS	1 lab	5c5e3032e0
16:929617 LMF1 C>T	16	929617	929617	C	T	LMF1	c.850G>A	NM_022773.4	NP_073610.2:p.(Gly284Ser)	NC_000016.9:g.929617C>T	(Likely) pathogenic	1 lab	5c5f40e334
15:72119127 MYO9A G>A	15	72119127	72119127	G	A	MYO9A	c.7441C>T	NM_006901.4	NP_008832.2:p.(Leu2481=)	NC_000015.9:g.72119127G>A	(Likely) benign	1 lab	5c6250d808
4:106359169 PPA2 C>A	4	106359169	106359169	C	A	PPA2	c.466G>T	NM_176869.3	NP_789845.1:p.(Asp156Tyr)	NC_000004.11:g.106359169C>A	VUS	1 lab	5c63bc2951
X:135757198 ARHGEF6 G>C	X	135757198	135757198	G	C	ARHGEF6	c.2003C>G	NM_004840.3	NP_004831.1:p.(Thr668Ser)	NC_000023.10:g.135757198G>C	VUS	1 lab	5c64140cc1
3:108754320 MORC1 T>TAA	3	108754320	108754330	T	TAA	MORC1	c.1331-7_1331-6dup	NM_014429.4	NP_055244.3:p.?	NC_000003.11:g.108754329_108754330dup	(Likely) benign	1 lab	5c69eadc02
16:29432210 MISSING Ref too long to show for this DEL>A	16	29432210	30191848	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29432212_30191848del	(Likely) pathogenic	1 lab	5c6b6b451d
15:54596522 UNC13C Ref too long to show for this DEL>T	15	54596522	54669029	Ref too long to show for this DEL	T	UNC13C	c.4268+3952_4714-16217del	NM_001080534.3	NP_001074003.1:p.?	NC_000015.9:g.54596523_54669029del	VUS	1 lab	5c6c5d9dcf
17:15142945 PMP22 C>T	17	15142945	15142945	C	T	PMP22	c.179-17G>A	NM_001281456.2	NP_001268385.1:p.?	NC_000017.10:g.15142945C>T	(Likely) benign	1 lab	5c6c760128
5:178585773 ADAMTS2 A>G	5	178585773	178585773	A	G	ADAMTS2	c.1083T>C	NM_014244.5	NP_055059.2:p.(Asp361=)	NC_000005.9:g.178585773A>G	(Likely) benign	1 lab	5c6e2397b0
1:156096023 LMNA G>A	1	156096023	156096023	G	A	LMNA	c.357-4385G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096023G>A	(Likely) benign	1 lab	5c6ecf7e7c
1:17354373 SDHB G>GGAA	1	17354373	17354397	G	GGAA	SDHB	c.424-16_424-14dup	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17354395_17354397dup	(Likely) benign	1 lab	5c6fc6c6ba
2:179605116 TTN T>G	2	179605116	179605116	T	G	TTN	c.12844A>C	NM_001267550.2	NP_001254479.2:p.(Ile4282Leu)	NC_000002.11:g.179605116T>G	(Likely) benign	1 lab	5c702f8e05
17:1579889 PRPF8 A>G	17	1579889	1579889	A	G	PRPF8	c.2298T>C	NM_006445.4	NP_006436.3:p.(Thr766=)	NC_000017.10:g.1579889A>G	(Likely) benign	1 lab	5c706f9fd8
11:2604715 KCNQ1 C>T	11	2604715	2604715	C	T	KCNQ1	c.972C>T	NM_000218.3	NP_000209.2:p.(Val324=)	NC_000011.9:g.2604715C>T	(Likely) benign	1 lab	5c71491b99
22:29877010 NEFH G>T	22	29877010	29877010	G	T	NEFH	c.759G>T	NM_021076.4	NP_066554.2:p.(Ala253=)	NC_000022.10:g.29877010G>T	(Likely) benign	1 lab	5c74260b14
17:79518071 FAAP100 C>T	17	79518071	79518071	C	T	FAAP100	c.449G>A	NM_025161.6	NP_079437.5:p.(Trp150Ter)	NC_000017.10:g.79518071C>T	VUS	1 lab	5c785a9cc2
2:135872823 RAB3GAP1 C>T	2	135872823	135872823	C	T	RAB3GAP1	c.520C>T	NM_001172435.2	NP_001165906.1:p.(Arg174Ter)	NC_000002.11:g.135872823C>T	(Likely) pathogenic	1 lab	5c79662c50
15:73660097 HCN4 G>C	15	73660097	73660097	G	C	HCN4	c.515C>G	NM_005477.3	NP_005468.1:p.(Pro172Arg)	NC_000015.9:g.73660097G>C	VUS	1 lab	5c7abf349f
6:16144106 MYLIP G>A	6	16144106	16144106	G	A	MYLIP	c.827+12G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16144106G>A	(Likely) benign	1 lab	5c800e8f8a
2:21255218 APOB A>G	2	21255218	21255218	A	G	APOB	c.1352+8T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255218A>G	(Likely) benign	1 lab	5c840babe0
11:116707893 APOA1 C>T	11	116707893	116707893	C	T	APOA1	c.-240-64G>A	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707893C>T	(Likely) benign	1 lab	5c85fb4514
12:21358881 SLCO1B1 G>A	12	21358881	21358881	G	A	SLCO1B1	c.1411G>A	NM_006446.5	NP_006437.3:p.(Glu471Lys)	NC_000012.11:g.21358881G>A	(Likely) benign	1 lab	5c8918e7a3
12:33003895 PKP2 G>A	12	33003895	33003895	G	A	PKP2	c.1183C>T	NM_004572.4	NP_004563.2:p.(Arg395Cys)	NC_000012.11:g.33003895G>A	VUS	1 lab	5c8a6c4cd3
20:54824533 MC3R C>T	20	54824533	54824533	C	T	MC3R	c.634C>T	NM_019888.3	NP_063941.3:p.(Leu212Phe)	NC_000020.10:g.54824533C>T	VUS	1 lab	5c8bf972e2
1:55523180 PCSK9 C>T	1	55523180	55523180	C	T	PCSK9	c.1173C>T	NM_174936.4	NP_777596.2:p.(His391=)	NC_000001.10:g.55523180C>T	(Likely) benign	1 lab	5c8ee458f2
X:41205795 DDX3X A>G	X	41205795	41205795	A	G	DDX3X	c.1535A>G	NM_001193416.3	NP_001180345.1:p.(His512Arg)	NC_000023.10:g.41205795A>G	(Likely) pathogenic	1 lab	5c8f6af5fc
15:23890968 MAGEL2 G>C	15	23890968	23890968	G	C	MAGEL2	c.1922C>G	NM_019066.5	NP_061939.3:p.(Pro641Arg)	NC_000015.9:g.23890968G>C	(Likely) benign	1 lab	5c9002fad2
X:153589444 FLNA A>G	X	153589444	153589444	A	G	FLNA	c.3207+232T>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153589444A>G	(Likely) benign	1 lab	5c91912da1
2:86565171 REEP1 G>T	2	86565171	86565171	G	T	REEP1	c.29C>A	NM_001164730.2	NP_001158202.1:p.(Thr10Asn)	NC_000002.11:g.86565171G>T	(Likely) benign	1 lab	5c91d1ce8d
4:65275015 TECRL G>A	4	65275015	65275015	G	A	TECRL	c.55C>T	NM_001010874.5	NP_001010874.2:p.(Gln19Ter)	NC_000004.11:g.65275015G>A	VUS	1 lab	5c952fad98
8:144990335 PLEC G>A	8	144990335	144990335	G	A	PLEC	c.*10C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.144990335G>A	(Likely) benign	1 lab	5c96197f8a
11:116706830 APOA1 G>T	11	116706830	116706830	G	T	APOA1	c.171C>A	NM_001318021.1	NP_001304950.1:p.(Ser57Arg)	NC_000011.9:g.116706830G>T	VUS	1 lab	5c96d391f1
11:1861653 TNNI2 G>A	11	1861653	1861653	G	A	TNNI2	c.36G>A	NM_001145829.2	NP_001139301.1:p.(Thr12=)	NC_000011.9:g.1861653G>A	(Likely) benign	1 lab	5c96ddbac1
12:22089513 ABCC9 G>A	12	22089513	22089513	G	A	ABCC9	c.96C>T	NM_020297.4	NP_064693.2:p.(Val32=)	NC_000012.11:g.22089513G>A	(Likely) benign	1 lab	5c970625fa
3:38645388 SCN5A G>A	3	38645388	38645388	G	A	SCN5A	c.1705C>T	NM_198056.3	NP_932173.1:p.(Arg569Trp)	NC_000003.11:g.38645388G>A	VUS	1 lab	5c972b2d98
7:151292507 PRKAG2 C>T	7	151292507	151292507	C	T	PRKAG2	c.788G>A	NM_016203.4	NP_057287.2:p.(Arg263Gln)	NC_000007.13:g.151292507C>T	VUS	1 lab	5c9d9951f9
9:32986030 APTX T>TAAAAAAAAAC	9	32986030	32986040	T	TAAAAAAAAAC	APTX	c.484-3_484-2insGTTTTTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAAAAAA	(Likely) benign	1 lab	5c9ff5d783
10:118891992 VAX1 G>A	10	118891992	118891992	G	A	VAX1	c.430-4C>T	NM_199131.3	NP_954582.1:p.?	NC_000010.10:g.118891992G>A	(Likely) benign	1 lab	5ca0b4b9d0
2:220496798 SLC4A3 GGAA>G	2	220496798	220496813	GGAA	G	SLC4A3	c.1014_1016del	NM_201574.3	NP_963868.3:p.(Lys340del)	NC_000002.11:g.220496811_220496813del	(Likely) benign	1 lab	5ca46dcc62
X:118603773 SLC25A5 T>C	X	118603773	118603773	T	C	SLC25A5	c.261T>C	NM_001152.5	NP_001143.2:p.(Leu87=)	NC_000023.10:g.118603773T>C	(Likely) benign	1 lab	5ca5e0dcc2
1:207679305 CR1 GAA>G	1	207679305	207679307	GAA	G	CR1	c.179_180del	NM_000651.6	NP_000642.3:p.(Glu60ValfsTer2)	NC_000001.10:g.207679306_207679307del	VUS	1 lab	5ca6da2a84
9:86616135 MISSING Ref too long to show for this DEL>A	9	86616135	86631038	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.86616137_86631038del	VUS	1 lab	5ca94779b6
8:42868455 HOOK3 CTT>C	8	42868455	42868469	CTT	C	HOOK3	c.1945-4_1945-3del	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42868468_42868469del	(Likely) benign	1 lab	5cafb6076f
2:179427786 TTN A>G	2	179427786	179427786	A	G	TTN	c.83073T>C	NM_001267550.2	NP_001254479.2:p.(Ala27691=)	NC_000002.11:g.179427786A>G	(Likely) benign	1 lab	5cb117f223
11:47359503 MYBPC3 CT>C	11	47359503	47359522	CT	C	MYBPC3	c.2309-159del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359522del	(Likely) benign	1 lab	5cb24220b4
15:67479821 SMAD3 C>T	15	67479821	67479821	C	T	SMAD3	c.1128C>T	NM_005902.4	NP_005893.1:p.(Phe376=)	NC_000015.9:g.67479821C>T	(Likely) benign	1 lab	5cb42f0832
6:56357060 DST T>C	6	56357060	56357060	T	C	DST	c.14365A>G	NM_001144769.5	NP_001138241.1:p.(Arg4789Gly)	NC_000006.11:g.56357060T>C	VUS	1 lab	5cb5800121
10:21805480 SKIDA1 T>C	10	21805480	21805480	T	C	SKIDA1	c.1272A>G	NM_207371.4	NP_997254.3:p.(Glu424=)	NC_000010.10:g.21805480T>C	(Likely) benign	1 lab	5cb59bbed4
2:219647073 CYP27A1 C>T	2	219647073	219647073	C	T	CYP27A1	c.168C>T	NM_000784.4	NP_000775.1:p.(Ser56=)	NC_000002.11:g.219647073C>T	(Likely) benign	1 lab	5cb5ce557d
5:88089658 MISSING Ref too long to show for this DEL>G	5	88089658	88356680	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.88089660_88356680del	(Likely) pathogenic	1 lab	5cb61be9dd
3:46899868 MYL3 G>A	3	46899868	46899868	G	A	MYL3	c.559+6C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899868G>A	(Likely) benign	1 lab	5cb76278ec
10:69881367 MYPN G>C	10	69881367	69881367	G	C	MYPN	c.172G>C	NM_032578.4	NP_115967.2:p.(Asp58His)	NC_000010.10:g.69881367G>C	VUS	1 lab	5cb89b1cb9
2:189849517 COL3A1 G>A	2	189849517	189849517	G	A	COL3A1	c.111G>A	NM_000090.4	NP_000081.2:p.(Gln37=)	NC_000002.11:g.189849517G>A	(Likely) benign	1 lab	5cb935a653
11:75495786 DGAT2 T>C	11	75495786	75495786	T	C	DGAT2	c.245T>C	NM_032564.5	NP_115953.2:p.(Val82Ala)	NC_000011.9:g.75495786T>C	VUS	1 lab	5cbd7f7e2f
16:2171486 MISSING C>Alt too long to show for this DUP	16	2171486	2649770	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.2171487_2649770dup	VUS	1 lab	5cc26da22f
1:211654675 RD3 G>A	1	211654675	211654675	G	A	RD3	c.83C>T	NM_183059.3	NP_898882.1:p.(Thr28Met)	NC_000001.10:g.211654675G>A	(Likely) benign	1 lab	5cc3c3abed
2:179397864 TTN A>G	2	179397864	179397864	A	G	TTN	c.103478T>C	NM_001267550.2	NP_001254479.2:p.(Val34493Ala)	NC_000002.11:g.179397864A>G	VUS	1 lab	5cc4ac22a0
9:107591223 ABCA1 C>T	9	107591223	107591223	C	T	ABCA1	c.2089G>A	NM_005502.4	NP_005493.2:p.(Ala697Thr)	NC_000009.11:g.107591223C>T	(Likely) benign	1 lab	5cc524fc99
18:77439844 CTDP1 G>T	18	77439844	77439844	G	T	CTDP1	c.-104G>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77439844G>T	(Likely) benign	1 lab	5cc7b60e5e
9:137687966 COL5A1 G>C	9	137687966	137687966	G	C	COL5A1	c.2800-254G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137687966G>C	(Likely) benign	1 lab	5cc7e4ffe5
2:219677806 CYP27A1 CT>C	2	219677806	219677807	CT	C	CYP27A1	c.1005del	NM_000784.4	NP_000775.1:p.(Gly336GlufsTer9)	NC_000002.11:g.219677807del	(Likely) pathogenic	1 lab	5cc8752abe
1:202565868 SYT2 G>A	1	202565868	202565868	G	A	SYT2	c.*17C>T	NM_001136504.1	NP_001129976.1:p.?	NC_000001.10:g.202565868G>A	(Likely) benign	1 lab	5cc88c9023
2:114002164 PAX8 CT>C	2	114002164	114002165	CT	C	PAX8	c.228del	NM_003466.4	NP_003457.1:p.(Ile76MetfsTer78)	NC_000002.11:g.114002165del	(Likely) pathogenic	1 lab	5ccc366d73
X:73811809 RLIM T>C	X	73811809	73811809	T	C	RLIM	c.1341A>G	NM_183353.3	NP_899196.1:p.(Gly447=)	NC_000023.10:g.73811809T>C	(Likely) benign	1 lab	5cccc9cd58
1:55529047 PCSK9 C>T	1	55529047	55529047	C	T	PCSK9	c.1869C>T	NM_174936.4	NP_777596.2:p.(Thr623=)	NC_000001.10:g.55529047C>T	(Likely) benign	1 lab	5cceb5686d
11:47367579 MYBPC3 T>C	11	47367579	47367579	T	C	MYBPC3	c.1090+179A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367579T>C	(Likely) benign	1 lab	5cd3ca3688
18:21745091 OSBPL1A A>T	18	21745091	21745091	A	T	OSBPL1A	c.2688T>A	NM_080597.4	NP_542164.2:p.(Leu896=)	NC_000018.9:g.21745091A>T	(Likely) benign	1 lab	5cd7ff2ce1
1:180235547 LHX4 C>T	1	180235547	180235547	C	T	LHX4	c.269C>T	NM_033343.4	NP_203129.1:p.(Thr90Met)	NC_000001.10:g.180235547C>T	(Likely) benign	1 lab	5cda53681a
1:16918473 NBPF1 G>A	1	16918473	16918473	G	A	NBPF1	c.44C>T	NM_017940.6	NP_060410.3:p.(Thr15Met)	NC_000001.10:g.16918473G>A	(Likely) benign	1 lab	5cdb498061
3:57846577 SLMAP C>T	3	57846577	57846577	C	T	SLMAP	c.828+11C>T	NM_001304420.3	NP_001291349.1:p.?	NC_000003.11:g.57846577C>T	(Likely) benign	1 lab	5cdcfc8530
1:66064459 LEPR G>T	1	66064459	66064459	G	T	LEPR	c.966G>T	NM_001003679.3	NP_001003679.1:p.(Trp322Cys)	NC_000001.10:g.66064459G>T	VUS	1 lab	5ce0dd51ef
11:108593787 DDX10 C>T	11	108593787	108593787	C	T	DDX10	c.1563C>T	NM_004398.4	NP_004389.2:p.(Thr521=)	NC_000011.9:g.108593787C>T	(Likely) benign	1 lab	5ce4a6a89f
4:6293732 WFS1 C>T	4	6293732	6293732	C	T	WFS1	c.712+8C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6293732C>T	(Likely) benign	1 lab	5ce5ce9789
12:57908775 MARS1 G>A	12	57908775	57908775	G	A	MARS1	c.2138G>A	NM_004990.4	NP_004981.2:p.(Arg713Gln)	NC_000012.11:g.57908775G>A	VUS	1 lab	5ce6eab95e
19:7620508 PNPLA6 C>T	19	7620508	7620508	C	T	PNPLA6	c.2982C>T	NM_001166111.2	NP_001159583.1:p.(Ile994=)	NC_000019.9:g.7620508C>T	(Likely) benign	1 lab	5ce8adb899
11:22248889 ANO5 C>A	11	22248889	22248889	C	A	ANO5	c.405C>A	NM_213599.3	NP_998764.1:p.(Ala135=)	NC_000011.9:g.22248889C>A	(Likely) benign	1 lab	5cea317697
2:21224624 APOB C>T	2	21224624	21224624	C	T	APOB	c.13670G>A	NM_000384.3	NP_000375.3:p.(Gly4557Glu)	NC_000002.11:g.21224624C>T	VUS	1 lab	5ceda08235
2:179437303 TTN G>A	2	179437303	179437303	G	A	TTN	c.73556C>T	NM_001267550.2	NP_001254479.2:p.(Thr24519Ile)	NC_000002.11:g.179437303G>A	VUS	1 lab	5cf269c1b4
19:49661528 TRPM4 G>A	19	49661528	49661528	G	A	TRPM4	c.92+12G>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49661528G>A	(Likely) benign	1 lab	5cf49f7f81
6:126075681 HEY2 CAG>C	6	126075681	126075683	CAG	C	HEY2	c.318_319del	NM_012259.3	NP_036391.1:p.(Gly108Ter)	NC_000006.11:g.126075682_126075683del	(Likely) pathogenic	1 lab	5cf760303b
12:50501412 GPD1 G>A	12	50501412	50501412	G	A	GPD1	c.675G>A	NM_005276.4	NP_005267.2:p.(Ala225=)	NC_000012.11:g.50501412G>A	(Likely) benign	1 lab	5cf9a90b02
7:128481419 FLNC T>G	7	128481419	128481419	T	G	FLNC	c.2007+2T>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481419T>G	VUS	1 lab	5e8b26486c
19:17895610 FCHO1 T>C	19	17895610	17895610	T	C	FCHO1	c.2303T>C	NM_015122.3	NP_055937.1:p.(Val768Ala)	NC_000019.9:g.17895610T>C	(Likely) benign	1 lab	5d0466473f
17:6387548 PITPNM3 G>A	17	6387548	6387548	G	A	PITPNM3	c.339C>T	NM_031220.4	NP_112497.2:p.(His113=)	NC_000017.10:g.6387548G>A	(Likely) benign	1 lab	5d0635abc8
14:23887514 MYH7 C>T	14	23887514	23887514	C	T	MYH7	c.4074G>A	NM_000257.4	NP_000248.2:p.(Gln1358=)	NC_000014.8:g.23887514C>T	(Likely) benign	1 lab	5d07c1c9a7
6:75844458 COL12A1 C>T	6	75844458	75844458	C	T	COL12A1	c.5508G>A	NM_004370.6	NP_004361.3:p.(Thr1836=)	NC_000006.11:g.75844458C>T	(Likely) benign	1 lab	5d08527eb4
20:42788296 JPH2 A>T	20	42788296	42788296	A	T	JPH2	c.1131T>A	NM_020433.5	NP_065166.2:p.(Ala377=)	NC_000020.10:g.42788296A>T	(Likely) benign	1 lab	5d0a15e97d
2:21230288 APOB G>A	2	21230288	21230288	G	A	APOB	c.9452C>T	NM_000384.3	NP_000375.3:p.(Ser3151Phe)	NC_000002.11:g.21230288G>A	VUS	1 lab	5d0af90bc1
4:100529085 MTTP C>T	4	100529085	100529085	C	T	MTTP	c.1558-838C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100529085C>T	(Likely) benign	1 lab	5d0bce67dd
6:126080915 HEY2 C>T	6	126080915	126080915	C	T	HEY2	c.981C>T	NM_012259.3	NP_036391.1:p.(Tyr327=)	NC_000006.11:g.126080915C>T	(Likely) benign	1 lab	5d168933c9
X:118603713 SLC25A5 T>C	X	118603713	118603713	T	C	SLC25A5	c.201T>C	NM_001152.5	NP_001143.2:p.(Val67=)	NC_000023.10:g.118603713T>C	(Likely) benign	1 lab	5d18f9d0c3
8:95680629 MISSING G>Alt too long to show for this DUP	8	95680629	96112279	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.95680630_96112279dup	VUS	1 lab	5d1f27cb73
6:24528371 ALDH5A1 C>CG	6	24528371	24528374	C	CG	ALDH5A1	c.1362dup	NM_170740.1	NP_733936.1:p.(Pro455AlafsTer19)	NC_000006.11:g.24528374dup	(Likely) pathogenic	1 lab	5d2437dfb0
15:58860901 LIPC T>C	15	58860901	58860901	T	C	LIPC	c.1389-14T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58860901T>C	VUS	1 lab	5d245be10c
9:137644474 COL5A1 G>GGGAGACCTGGC	9	137644474	137644485	G	GGGAGACCTGGC	COL5A1	c.1703_1713dup	NM_000093.5	NP_000084.3:p.(Pro572GlyfsTer14)	NC_000009.11:g.137644475_137644485dup	(Likely) pathogenic	1 lab	5d25030564
4:106374753 PPA2 A>G	4	106374753	106374753	A	G	PPA2	c.267+2T>C	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106374753A>G	VUS	1 lab	5d28c0f63e
7:6523688 KDELR2 T>TGGC	7	6523688	6523702	T	TGGC	KDELR2	c.-3_-1dup	NM_006854.4	NP_006845.1:p.?	NC_000007.13:g.6523700_6523702dup	(Likely) benign	1 lab	5d295a60e9
15:73635921 HCN4 C>G	15	73635921	73635921	C	G	HCN4	c.1014G>C	NM_005477.3	NP_005468.1:p.(Leu338=)	NC_000015.9:g.73635921C>G	(Likely) benign	1 lab	5d4c7409db
19:15303305 NOTCH3 G>A	19	15303305	15303305	G	A	NOTCH3	c.223C>T	NM_000435.3	NP_000426.2:p.(Arg75Trp)	NC_000019.9:g.15303305G>A	(Likely) benign	1 lab	5d2b589b5a
7:2713562 MISSING Ref too long to show for this DEL>A	7	2713562	2809622	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.2713563_2809622del	(Likely) pathogenic	1 lab	5d2bc7a1a6
1:25890210 LDLRAP1 G>A	1	25890210	25890210	G	A	LDLRAP1	c.675G>A	NM_015627.3	NP_056442.2:p.(Thr225=)	NC_000001.10:g.25890210G>A	(Likely) benign	1 lab	5d2bfd7a0b
1:197390491 CRB1 C>T	1	197390491	197390491	C	T	CRB1	c.1326C>T	NM_001257965.2	NP_001244894.1:p.(Ala442=)	NC_000001.10:g.197390491C>T	(Likely) benign	1 lab	5d2c1573c4
6:32011335 TNXB TGGGGGAAGGGGA>T	6	32011335	32011351	TGGGGGAAGGGGA	T	TNXB	c.11525-14_11525-3del	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011340_32011351del	VUS	1 lab	5d2c38e924
8:29588277 MISSING T>Alt too long to show for this DUP	8	29588277	29616655	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.29588279_29616655dup	VUS	1 lab	5d306570b0
X:48546678 WAS C>T	X	48546678	48546678	C	T	WAS	c.778-11C>T	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48546678C>T	(Likely) benign	1 lab	5d327726c0
5:58334914 PDE4D A>G	5	58334914	58334914	A	G	PDE4D	c.21T>C	NM_001197222.2	NP_001184151.1:p.(Cys7=)	NC_000005.9:g.58334914A>G	(Likely) benign	1 lab	5d329d5dab
9:139092571 LHX3 C>T	9	139092571	139092571	C	T	LHX3	c.123G>A	NM_014564.5	NP_055379.1:p.(Gln41=)	NC_000009.11:g.139092571C>T	(Likely) benign	1 lab	5d3301b0f6
20:42745006 JPH2 G>A	20	42745006	42745006	G	A	JPH2	c.1309C>T	NM_020433.5	NP_065166.2:p.(Arg437Trp)	NC_000020.10:g.42745006G>A	VUS	1 lab	5d33114d94
6:155317693 TIAM2 Ref too long to show for this DEL>A	6	155317693	155450439	Ref too long to show for this DEL	A	TIAM2	c.-209+1069_82del	NM_012454.4	NP_036586.3:p.?	NC_000006.11:g.155317695_155450439del	VUS	1 lab	5d332b4e2f
8:19819213 LPL C>CA	8	19819213	19819224	C	CA	LPL	c.1323-402dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819224dup	(Likely) benign	1 lab	5d4fafa94d
X:154947900 MISSING Ref too long to show for this DEL>T	X	154947900	155227313	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.154947902_155227313del	VUS	1 lab	5d36736284
6:7576540 DSP G>A	6	7576540	7576540	G	A	DSP	c.2644G>A	NM_004415.4	NP_004406.2:p.(Glu882Lys)	NC_000006.11:g.7576540G>A	VUS	1 lab	5d369b27e1
19:11240209 LDLR CT>C	19	11240209	11240210	CT	C	LDLR	c.2411del	NM_000527.5	NP_000518.1:p.(Leu804ArgfsTer125)	NC_000019.9:g.11240210del	(Likely) pathogenic	1 lab	5d3a0e7188
1:2916208 MISSING A>Alt too long to show for this DUP	1	2916208	2996196	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.2916209_2996196dup	VUS	1 lab	5d3c25bd3a
19:11215908 LDLR G>A	19	11215908	11215908	G	A	LDLR	c.326G>A	NM_000527.5	NP_000518.1:p.(Cys109Tyr)	NC_000019.9:g.11215908G>A	(Likely) pathogenic	1 lab	5d3d183c6d
2:97915886 ANKRD36 G>GC	2	97915886	97915887	G	GC	ANKRD36	c.5731dup	NM_001354587.1	NP_001341516.1:p.(Gln1911ProfsTer4)	NC_000002.11:g.97915887dup	(Likely) benign	1 lab	5d404cc660
6:118905149 MISSING Ref too long to show for this DEL>T	6	118905149	119061151	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.118905152_119061151del	VUS	1 lab	5d43476025
2:179422669 TTN-AS1 G>T	2	179422669	179422669	G	T	TTN-AS1	n.2043+15581G>T	NR_038272.1		NC_000002.11:g.179422669G>T	(Likely) benign	1 lab	5d44a2b96f
6:16145071 MYLIP A>G	6	16145071	16145071	A	G	MYLIP	c.828-57A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16145071A>G	(Likely) benign	1 lab	5d47439620
6:100838578 SIM1 C>T	6	100838578	100838578	C	T	SIM1	c.1960G>A	NM_005068.3	NP_005059.2:p.(Ala654Thr)	NC_000006.11:g.100838578C>T	(Likely) benign	1 lab	5d47e30a42
15:48786799 FBN1 GA>G	15	48786799	48786801	GA	G	FBN1	c.2678-349del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48786801del	(Likely) benign	1 lab	5d4993fcd1
15:44943761 SPG11 A>G	15	44943761	44943761	A	G	SPG11	c.1384T>C	NM_025137.4	NP_079413.3:p.(Cys462Arg)	NC_000015.9:g.44943761A>G	VUS	1 lab	5d54a0b99e
15:85360813 ALPK3 C>G	15	85360813	85360813	C	G	ALPK3	c.130C>G	NM_020778.5	NP_065829.4:p.(Arg44Gly)	NC_000015.9:g.85360813C>G	VUS	1 lab	5e8ca1a69e
3:66330810 SLC25A26 Ref too long to show for this DEL>T	3	66330810	66393422	Ref too long to show for this DEL	T	SLC25A26	c.453+17009_454-3366del	NM_001379210.1	NP_001366139.1:p.?	NC_000003.11:g.66330812_66393422del	VUS	1 lab	5d56fb2261
15:30849462 MISSING Ref too long to show for this DEL>A	15	30849462	32784226	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.30849465_32784226del	(Likely) pathogenic	1 lab	5d59f57a3d
3:52486522 TNNC1 T>C	3	52486522	52486522	T	C	TNNC1	c.32A>G	NM_003280.3	NP_003271.1:p.(Gln11Arg)	NC_000003.11:g.52486522T>C	(Likely) pathogenic	1 lab	5d5a6cce35
1:6046208 NPHP4 T>C	1	6046208	6046208	T	C	NPHP4	c.135+7A>G	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6046208T>C	(Likely) benign	1 lab	5d5acf2099
2:44100871 ABCG8 G>A	2	44100871	44100871	G	A	ABCG8	c.1212-55G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100871G>A	(Likely) benign	1 lab	5d5ad503a5
21:46698077 MISSING T>Alt too long to show for this DUP	21	46698077	46891353	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.46698080_46891353dup	VUS	1 lab	5d5b45e0f1
9:107594474 ABCA1 T>C	9	107594474	107594474	T	C	ABCA1	c.1510-366A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594474T>C	(Likely) benign	1 lab	5d5db09956
14:23873509 MYH6 C>T	14	23873509	23873509	C	T	MYH6	c.731G>A	NM_002471.4	NP_002462.2:p.(Arg244His)	NC_000014.8:g.23873509C>T	VUS	1 lab	5d62d556e7
3:128976693 COPG1 G>A	3	128976693	128976693	G	A	COPG1	c.861G>A	NM_016128.4	NP_057212.1:p.(Pro287=)	NC_000003.11:g.128976693G>A	(Likely) benign	1 lab	5d62f7461e
6:75844499 COL12A1 C>T	6	75844499	75844499	C	T	COL12A1	c.5467G>A	NM_004370.6	NP_004361.3:p.(Val1823Ile)	NC_000006.11:g.75844499C>T	VUS	1 lab	5d6936a0ed
19:45451647 APOC2 C>G	19	45451647	45451647	C	G	APOC2	c.-13-76C>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451647C>G	(Likely) benign	1 lab	5d6bfc765e
2:25457235 DNMT3A C>T	2	25457235	25457235	C	T	DNMT3A	c.2652G>A	NM_022552.5	NP_072046.2:p.(Ala884=)	NC_000002.11:g.25457235C>T	(Likely) benign	1 lab	5d6e74b9ca
2:63349168 WDPCP G>T	2	63349168	63349168	G	T	WDPCP	c.2214C>A	NM_015910.7	NP_056994.3:p.(Leu738=)	NC_000002.11:g.63349168G>T	(Likely) benign	1 lab	5d71317de1
12:2788926 CACNA1C G>C	12	2788926	2788926	G	C	CACNA1C	c.5552G>C	NM_199460.4	NP_955630.3:p.(Arg1851Pro)	NC_000012.11:g.2788926G>C	VUS	1 lab	5d74c480c2
11:116661348 APOA5 C>T	11	116661348	116661348	C	T	APOA5	c.597G>A	NM_052968.5	NP_443200.2:p.(Val199=)	NC_000011.9:g.116661348C>T	VUS	1 lab	5d7718e7d7
18:3457608 TGIF1 G>A	18	3457608	3457608	G	A	TGIF1	c.531G>A	NM_173207.4	NP_775299.1:p.(Pro177=)	NC_000018.9:g.3457608G>A	(Likely) benign	1 lab	5d788e27a7
X:148019770 AFF2 Ref too long to show for this DEL>T	X	148019770	148062794	Ref too long to show for this DEL	T	AFF2	c.1398-15338_3623+474del	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.148019772_148062794del	(Likely) pathogenic	1 lab	5d78b8ad00
2:179395382 TTN A>G	2	179395382	179395382	A	G	TTN	c.105960T>C	NM_001267550.2	NP_001254479.2:p.(Tyr35320=)	NC_000002.11:g.179395382A>G	(Likely) benign	1 lab	5d7c800cf2
19:47259769 FKRP G>A	19	47259769	47259769	G	A	FKRP	c.1062G>A	NM_024301.5	NP_077277.1:p.(Gly354=)	NC_000019.9:g.47259769G>A	(Likely) benign	1 lab	5d808309c1
3:48623625 COL7A1 C>T	3	48623625	48623625	C	T	COL7A1	c.3605G>A	NM_000094.4	NP_000085.1:p.(Arg1202His)	NC_000003.11:g.48623625C>T	(Likely) benign	1 lab	5d83c23629
15:73636076 HCN4 A>G	15	73636076	73636076	A	G	HCN4	c.859T>C	NM_005477.3	NP_005468.1:p.(Phe287Leu)	NC_000015.9:g.73636076A>G	(Likely) pathogenic	1 lab	5d83ffadf1
1:24294450 SRSF10 C>CA	1	24294450	24294466	C	CA	SRSF10	c.492-5dup	NM_001191006.3	NP_001177935.1:p.?	NC_000001.10:g.24294466dup	(Likely) benign	1 lab	5d8403c3a8
11:31823407 PAX6 T>C	11	31823407	31823407	T	C	PAX6	c.135-83A>G	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31823407T>C	(Likely) benign	1 lab	5d864adfe2
11:47356645 MYBPC3 C>G	11	47356645	47356645	C	G	MYBPC3	c.2853G>C	NM_000256.3	NP_000247.2:p.(Gly951=)	NC_000011.9:g.47356645C>G	(Likely) benign	1 lab	5d87c04962
6:31636886 CSNK2B C>T	6	31636886	31636886	C	T	CSNK2B	c.304C>T	NM_001320.7	NP_001311.3:p.(Gln102Ter)	NC_000006.11:g.31636886C>T	(Likely) pathogenic	1 lab	5d8d0880c6
16:57003442 CETP C>T	16	57003442	57003442	C	T	CETP	c.368+10C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003442C>T	(Likely) benign	1 lab	5d8dfe1134
12:125298960 SCARB1 C>T	12	125298960	125298960	C	T	SCARB1	c.427-9G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125298960C>T	(Likely) benign	1 lab	5d8f7ded72
17:59937136 BRIP1 A>C	17	59937136	59937136	A	C	BRIP1	c.205+21T>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59937136A>C	(Likely) benign	1 lab	5d96f3a8ea
18:77440128 CTDP1 T>G	18	77440128	77440128	T	G	CTDP1	c.181T>G	NM_004715.5	NP_004706.3:p.(Ser61Ala)	NC_000018.9:g.77440128T>G	(Likely) benign	1 lab	5d9805e0b8
2:179455550 TTN C>T	2	179455550	179455550	C	T	TTN	c.60902G>A	NM_001267550.2	NP_001254479.2:p.(Ser20301Asn)	NC_000002.11:g.179455550C>T	VUS	1 lab	5d98b91b35
19:8210997 FBN3 C>T	19	8210997	8210997	C	T	FBN3	c.349+14G>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8210997C>T	(Likely) benign	1 lab	5d9a992a60
17:75401199 SEPTIN9 C>A	17	75401199	75401199	C	A	SEPTIN9	c.26C>A	NM_001293696.2	NP_001280625.1:p.(Thr9Lys)	NC_000017.10:g.75401199C>A	VUS	1 lab	5d9f4bd21b
12:124383261 DNAH10 C>T	12	124383261	124383261	C	T	DNAH10	c.9186C>T	NM_207437.3	NP_997320.2:p.(Asp3062=)	NC_000012.11:g.124383261C>T	(Likely) benign	1 lab	5da0470a33
15:93528860 CHD2 C>T	15	93528860	93528860	C	T	CHD2	c.3370C>T	NM_001271.4	NP_001262.3:p.(Arg1124Trp)	NC_000015.9:g.93528860C>T	(Likely) pathogenic	1 lab	5da18e3a34
3:9506300 SETD5 TC>T	3	9506300	9506301	TC	T	SETD5	c.2375del	NM_001349451.2	NP_001336380.1:p.(Ser792TyrfsTer31)	NC_000003.11:g.9506301del	(Likely) pathogenic	1 lab	5da29e550c
2:179403936 TTN-AS1 A>G	2	179403936	179403936	A	G	TTN-AS1	n.1159A>G	NR_038272.1		NC_000002.11:g.179403936A>G	(Likely) benign	1 lab	5da4c39a39
4:100518282 MTTP C>A	4	100518282	100518282	C	A	MTTP	c.968C>A	NM_000253.4	NP_000244.2:p.(Ala323Asp)	NC_000004.11:g.100518282C>A	VUS	1 lab	5dacce6622
X:147106476 FMR1NB T>C	X	147106476	147106476	T	C	FMR1NB	c.724T>C	NM_152578.3	NP_689791.1:p.(Leu242=)	NC_000023.10:g.147106476T>C	(Likely) benign	1 lab	5daf854cff
1:218552209 TGFB2 G>A	1	218552209	218552209	G	A	TGFB2	c.347-26302G>A	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218552209G>A	(Likely) benign	1 lab	5db5cd40f3
2:179472623 TTN C>T	2	179472623	179472623	C	T	TTN	c.52891G>A	NM_001267550.2	NP_001254479.2:p.(Val17631Ile)	NC_000002.11:g.179472623C>T	VUS	1 lab	5db6174bdd
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	5db716493f
15:58840566 LIPC G>T	15	58840566	58840566	G	T	LIPC	c.846G>T	NM_000236.3	NP_000227.2:p.(Ser282=)	NC_000015.9:g.58840566G>T	(Likely) benign	1 lab	5db83cda56
1:55512319 PCSK9 G>A	1	55512319	55512319	G	A	PCSK9	c.523G>A	NM_174936.4	NP_777596.2:p.(Asp175Asn)	NC_000001.10:g.55512319G>A	VUS	1 lab	5dbbf137d0
9:107579624 ABCA1 G>A	9	107579624	107579624	G	A	ABCA1	c.3524C>T	NM_005502.4	NP_005493.2:p.(Thr1175Met)	NC_000009.11:g.107579624G>A	VUS	1 lab	5dbcbf4759
1:10431329 KIF1B C>G	1	10431329	10431329	C	G	KIF1B	c.4808+9C>G	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10431329C>G	(Likely) benign	1 lab	5dbd0ad818
16:23632740 PALB2 A>G	16	23632740	23632740	A	G	PALB2	c.3056T>C	NM_024675.4	NP_078951.2:p.(Val1019Ala)	NC_000016.9:g.23632740A>G	(Likely) benign	1 lab	5dbe909a60
7:91659313 AKAP9 AT>A	7	91659313	91659318	AT	A	AKAP9	c.4245+13del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91659318del	(Likely) benign	1 lab	5dbfa1646f
3:123427989 MYLK T>C	3	123427989	123427989	T	C	MYLK	c.1943-247A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123427989T>C	(Likely) benign	1 lab	5dc12af6ab
X:2867224 MISSING Ref too long to show for this DEL>A	X	2867224	2895017	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.2867225_2895017del	(Likely) pathogenic	1 lab	5dc44340c6
1:248366810 OR2M3 T>C	1	248366810	248366810	T	C	OR2M3	c.441T>C	NM_001004689.2	NP_001004689.1:p.(Phe147=)	NC_000001.10:g.248366810T>C	(Likely) benign	1 lab	5dc589061b
1:161771986 ATF6 C>T	1	161771986	161771986	C	T	ATF6	c.833C>T	NM_007348.4	NP_031374.2:p.(Ala278Val)	NC_000001.10:g.161771986C>T	(Likely) benign	1 lab	5dc686ce30
1:55506103 PCSK9 C>G	1	55506103	55506103	C	G	PCSK9	c.207+386C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55506103C>G	(Likely) benign	1 lab	5dc8b81064
22:36685192 MYH9 T>C	22	36685192	36685192	T	C	MYH9	c.4496A>G	NM_002473.6	NP_002464.1:p.(Asn1499Ser)	NC_000022.10:g.36685192T>C	VUS	1 lab	5dccdde649
X:38144845 RPGR C>T	X	38144845	38144845	C	T	RPGR	c.3407G>A	NM_001034853.2	NP_001030025.1:p.(Gly1136Asp)	NC_000023.10:g.38144845C>T	(Likely) benign	1 lab	5dd1a3fee1
6:7563834 DSP A>G	6	7563834	7563834	A	G	DSP	c.727-135A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7563834A>G	(Likely) benign	1 lab	5dd1de4912
22:50657797 TUBGCP6 AT>A	22	50657797	50657798	AT	A	TUBGCP6	c.4403del	NM_020461.4	NP_065194.3:p.(Asp1468ValfsTer7)	NC_000022.10:g.50657798del	(Likely) pathogenic	1 lab	5dd2454934
13:50134135 RCBTB1 G>T	13	50134135	50134135	G	T	RCBTB1	c.363C>A	NM_018191.4	NP_060661.3:p.(Val121=)	NC_000013.10:g.50134135G>T	VUS	1 lab	5dd3cd8c36
16:929613 LMF1 C>T	16	929613	929613	C	T	LMF1	c.854G>A	NM_022773.4	NP_073610.2:p.(Arg285Gln)	NC_000016.9:g.929613C>T	VUS	1 lab	5dd697e842
2:21228082 APOB G>A	2	21228082	21228082	G	A	APOB	c.11658C>T	NM_000384.3	NP_000375.3:p.(Arg3886=)	NC_000002.11:g.21228082G>A	(Likely) benign	1 lab	5dd8571765
22:46762360 CELSR1 G>A	22	46762360	46762360	G	A	CELSR1	c.8223C>T	NM_001378328.1	NP_001365257.1:p.(Asn2741=)	NC_000022.10:g.46762360G>A	(Likely) benign	1 lab	5dd89e1c9f
4:166385651 CPE C>T	4	166385651	166385651	C	T	CPE	c.417C>T	NM_001873.4	NP_001864.1:p.(Asn139=)	NC_000004.11:g.166385651C>T	(Likely) benign	1 lab	5dda8100f6
21:46323397 ITGB2 C>A	21	46323397	46323397	C	A	ITGB2	c.382G>T	NM_000211.5	NP_000202.3:p.(Asp128Tyr)	NC_000021.8:g.46323397C>A	(Likely) pathogenic	1 lab	5ddb5db10f
17:21320429 KCNJ12 T>A	17	21320429	21320429	T	A	KCNJ12	c.*473T>A	NM_021012.5	NP_066292.2:p.?	NC_000017.10:g.21320429T>A	(Likely) benign	1 lab	5ddbcb6cac
14:97321621 VRK1 T>C	14	97321621	97321621	T	C	VRK1	c.637T>C	NM_003384.3	NP_003375.1:p.(Tyr213His)	NC_000014.8:g.97321621T>C	VUS	1 lab	5ddff0e60e
1:156107457 LMNA C>T	1	156107457	156107457	C	T	LMNA	c.1621C>T	NM_170707.4	NP_733821.1:p.(Arg541Cys)	NC_000001.10:g.156107457C>T	(Likely) pathogenic	1 lab	5de4101929
12:32996164 PKP2 C>T	12	32996164	32996164	C	T	PKP2	c.1462G>A	NM_004572.4	NP_004563.2:p.(Gly488Ser)	NC_000012.11:g.32996164C>T	VUS	1 lab	5dea2b86f6
8:1905823 ARHGEF10 A>G	8	1905823	1905823	A	G	ARHGEF10	c.*394A>G	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1905823A>G	(Likely) benign	1 lab	5df20b5fe5
X:85128069 CHM A>G	X	85128069	85128069	A	G	CHM	c.1314T>C	NM_001362517.1	NP_001349446.1:p.(Asn438=)	NC_000023.10:g.85128069A>G	(Likely) benign	1 lab	5df89e7697
2:198267385 SF3B1 A>G	2	198267385	198267385	A	G	SF3B1	c.1972T>C	NM_012433.4	NP_036565.2:p.(Trp658Arg)	NC_000002.11:g.198267385A>G	VUS	1 lab	5df94c59fc
8:82713832 SNX16 C>CA	8	82713832	82713848	C	CA	SNX16	c.939-5dup	NM_022133.4	NP_071416.2:p.?	NC_000008.10:g.82713848dup	(Likely) benign	1 lab	5df974c390
7:100276188 GNB2 C>T	7	100276188	100276188	C	T	GNB2	c.867C>T	NM_005273.4	NP_005264.2:p.(Tyr289=)	NC_000007.13:g.100276188C>T	(Likely) benign	1 lab	5dfb5b9891
7:100405059 EPHB4 G>C	7	100405059	100405059	G	C	EPHB4	c.2262C>G	NM_004444.5	NP_004435.3:p.(Cys754Trp)	NC_000007.13:g.100405059G>C	VUS	1 lab	5dfb66369e
6:7576568 DSP A>G	6	7576568	7576568	A	G	DSP	c.2672A>G	NM_004415.4	NP_004406.2:p.(Tyr891Cys)	NC_000006.11:g.7576568A>G	VUS	1 lab	5dfb80a39b
4:100521604 MTTP TA>T	4	100521604	100521614	TA	T	MTTP	c.1068-108del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521614del	(Likely) benign	1 lab	5dfdaf29f3
5:121410120 LOX T>G	5	121410120	121410120	T	G	LOX	c.879-256A>C	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121410120T>G	(Likely) benign	1 lab	5e0145ffef
15:54893422 MISSING G>Alt too long to show for this DUP	15	54893422	54928519	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.54893424_54928519dup	VUS	1 lab	5e0424d7a5
9:139391916 NOTCH1 T>G	9	139391916	139391916	T	G	NOTCH1	c.6275A>C	NM_017617.5	NP_060087.3:p.(His2092Pro)	NC_000009.11:g.139391916T>G	VUS	1 lab	5e05f42bff
5:89941784 ADGRV1 G>A	5	89941784	89941784	G	A	ADGRV1	c.2899-1G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89941784G>A	(Likely) pathogenic	1 lab	5e0ae3ad9d
22:21804884 MISSING G>Alt too long to show for this DUP	22	21804884	22030349	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21804885_22030349dup	VUS	1 lab	5e0c63f96a
9:113308525 SVEP1 T>A	9	113308525	113308525	T	A	SVEP1	c.834A>T	NM_153366.4	NP_699197.3:p.(Ser278=)	NC_000009.11:g.113308525T>A	(Likely) benign	1 lab	5e10a81c65
19:7606329 PNPLA6 G>A	19	7606329	7606329	G	A	PNPLA6	c.1032+9G>A	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7606329G>A	(Likely) benign	1 lab	5e13b0d3e4
3:154861298 MME A>C	3	154861298	154861298	A	C	MME	c.1255A>C	NM_007289.4	NP_009220.2:p.(Met419Leu)	NC_000003.11:g.154861298A>C	(Likely) benign	1 lab	5e1563f7c2
3:48671025 SLC26A6 C>G	3	48671025	48671025	C	G	SLC26A6	c.4G>C	NM_001040454.1	NP_001035544.1:p.(Asp2His)	NC_000003.11:g.48671025C>G	(Likely) benign	1 lab	5e15d5c535
17:48265026 COL1A1 G>A	17	48265026	48265026	G	A	COL1A1	c.3370-128C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265026G>A	(Likely) benign	1 lab	5e19886e81
14:64630240 SYNE2 T>A	14	64630240	64630240	T	A	SYNE2	c.16420T>A	NM_182914.3	NP_878918.2:p.(Ser5474Thr)	NC_000014.8:g.64630240T>A	(Likely) benign	1 lab	5e1997a845
11:116701907 APOC3 TTCTTTC>T	11	116701907	116701914	TTCTTTC	T	APOC3	c.179+297_179+302del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701909_116701914del	(Likely) benign	1 lab	5e1b2475da
X:55172673 VCF2 G>T	X	55172673	55172673	G	T	VCF2	c.189C>A	NM_001166703.2	NP_001160175.1:p.(Gly63=)	NC_000023.10:g.55172673G>T	(Likely) benign	1 lab	5e1fb83348
5:127728581 FBN2 T>G	5	127728581	127728581	T	G	FBN2	c.1465+247A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127728581T>G	(Likely) benign	1 lab	5e233d645e
15:58852849 LIPC CACAATATAAGTCCTGAATAG>C	15	58852849	58852872	CACAATATAAGTCCTGAATAG	C	LIPC	c.1052-210_1052-191del	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852853_58852872del	(Likely) benign	1 lab	5e23bf3f05
7:91630806 AKAP9 T>C	7	91630806	91630806	T	C	AKAP9	c.1575T>C	NM_005751.5	NP_005742.4:p.(Ala525=)	NC_000007.13:g.91630806T>C	(Likely) benign	1 lab	5e2821d37c
6:75797195 COL12A1 C>A	6	75797195	75797195	C	A	COL12A1	c.9181+98G>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75797195C>A	(Likely) benign	1 lab	5e2b42e221
10:90703600 ACTA2 G>A	10	90703600	90703600	G	A	ACTA2	c.323C>T	NM_001141945.2	NP_001135417.1:p.(Thr108Met)	NC_000010.10:g.90703600G>A	VUS	1 lab	5e2c4329eb
6:10874276 GCM2 GTAAC>G	6	10874276	10874281	GTAAC	G	GCM2	c.1469_1472del	NM_004752.4	NP_004743.1:p.(Ser490ThrfsTer40)	NC_000006.11:g.10874278_10874281del	(Likely) pathogenic	1 lab	5e2eabf9fa
12:1037076 MISSING A>Alt too long to show for this DUP	12	1037076	1360602	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.1037077_1360602dup	VUS	1 lab	5e320fe30d
2:179605936 TTN G>A	2	179605936	179605936	G	A	TTN	c.12024C>T	NM_001267550.2	NP_001254479.2:p.(Leu4008=)	NC_000002.11:g.179605936G>A	(Likely) benign	1 lab	5e3802795e
15:58855705 LIPC G>A	15	58855705	58855705	G	A	LIPC	c.1171G>A	NM_000236.3	NP_000227.2:p.(Gly391Ser)	NC_000015.9:g.58855705G>A	VUS	1 lab	5e395115b5
11:4262816 MISSING T>Alt too long to show for this DUP	11	4262816	4936430	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.4262817_4936430dup	VUS	1 lab	5e3a435995
16:75681523 KARS1 C>T	16	75681523	75681523	C	T	KARS1	c.15G>A	NM_005548.3	NP_005539.1:p.(Gln5=)	NC_000016.9:g.75681523C>T	(Likely) benign	1 lab	5e3b676f19
11:19209773 CSRP3 C>T	11	19209773	19209773	C	T	CSRP3	c.191G>A	NM_003476.5	NP_003467.1:p.(Arg64His)	NC_000011.9:g.19209773C>T	VUS	1 lab	5e3c1b087b
1:147230281 GJA5 G>A	1	147230281	147230281	G	A	GJA5	c.1066C>T	NM_005266.7	NP_005257.2:p.(Leu356=)	NC_000001.10:g.147230281G>A	(Likely) benign	1 lab	5e3e54b040
1:236849991 ACTN2 C>T	1	236849991	236849991	C	T	ACTN2	c.18C>T	NM_001103.4	NP_001094.1:p.(Pro6=)	NC_000001.10:g.236849991C>T	(Likely) benign	1 lab	5e4419ea23
13:96234584 DZIP1 G>C	13	96234584	96234584	G	C	DZIP1	c.2525-17C>G	NM_198968.4	NP_945319.1:p.?	NC_000013.10:g.96234584G>C	(Likely) benign	1 lab	5e44a13bd7
8:94821388 TMEM67 A>G	8	94821388	94821388	A	G	TMEM67	c.2660A>G	NM_153704.6	NP_714915.3:p.(His887Arg)	NC_000008.10:g.94821388A>G	VUS	1 lab	5e46b3cbdc
18:59298927 MISSING Ref too long to show for this DEL>T	18	59298927	61879204	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.59298928_61879204del	(Likely) pathogenic	1 lab	5e493b4f9a
15:85400996 ALPK3 G>GTT	15	85400996	85400997	G	GTT	ALPK3	c.3027_3028insTT	NM_020778.5	NP_065829.4:p.(Thr1010LeufsTer24)	NC_000015.9:g.85400996_85400997insTT	(Likely) pathogenic	1 lab	5e4b4459c9
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-22_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844575_100844594dup	(Likely) benign	1 lab	5e51d72310
19:40902114 PRX A>T	19	40902114	40902114	A	T	PRX	c.2145T>A	NM_181882.3	NP_870998.2:p.(Cys715Ter)	NC_000019.9:g.40902114A>T	(Likely) pathogenic	1 lab	5e534e76f9
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	5e54e364aa
1:248059308 OR2W3 C>G	1	248059308	248059308	C	G	OR2W3	c.420C>G	NM_001001957.2	NP_001001957.2:p.(Leu140=)	NC_000001.10:g.248059308C>G	(Likely) benign	1 lab	5e59a919e4
17:39048473 MISSING Ref too long to show for this DEL>C	17	39048473	39487923	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.39048475_39487923del	VUS	1 lab	5e59f66231
X:119565294 LAMP2 C>T	X	119565294	119565294	C	T	LAMP2	c.1117G>A	NM_002294.3	NP_002285.1:p.(Asp373Asn)	NC_000023.10:g.119565294C>T	VUS	1 lab	5e5cdb8981
10:71154712 HK1 G>A	10	71154712	71154712	G	A	HK1	c.2190G>A	NM_033500.2	NP_277035.2:p.(Glu730=)	NC_000010.10:g.71154712G>A	(Likely) benign	1 lab	5e5cfbd047
17:56288030 MKS1 C>T	17	56288030	56288030	C	T	MKS1	c.1014G>A	NM_017777.4	NP_060247.2:p.(Leu338=)	NC_000017.10:g.56288030C>T	(Likely) benign	1 lab	5e5d3e82ac
12:52174427 SCN8A G>T	12	52174427	52174427	G	T	SCN8A	c.3820-6G>T	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52174427G>T	(Likely) benign	1 lab	5e602daba1
7:151262807 PRKAG2 T>G	7	151262807	151262807	T	G	PRKAG2	c.1398A>C	NM_016203.4	NP_057287.2:p.(Ser466=)	NC_000007.13:g.151262807T>G	VUS	1 lab	5e6163180a
19:11228745 LDLR T>C	19	11228745	11228745	T	C	LDLR	c.1845+1071T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228745T>C	(Likely) benign	1 lab	5e64155ea8
7:143425800 MISSING Ref too long to show for this DEL>G	7	143425800	144075390	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.143425801_144075390del	VUS	1 lab	5e648676af
8:97157394 GDF6 C>A	8	97157394	97157394	C	A	GDF6	c.765G>T	NM_001001557.4	NP_001001557.1:p.(Pro255=)	NC_000008.10:g.97157394C>A	(Likely) benign	1 lab	5e6545ce5b
18:25591963 CDH2 A>G	18	25591963	25591963	A	G	CDH2	c.400-7T>C	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25591963A>G	(Likely) benign	1 lab	5e6aa97dc3
9:136199634 MISSING G>Alt too long to show for this DUP	9	136199634	136229408	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.136199635_136229408dup	VUS	1 lab	5e6e48fdf1
7:112101910 IFRD1 T>A	7	112101910	112101910	T	A	IFRD1	c.568-11T>A	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101910T>A	(Likely) benign	1 lab	5e6f25312c
2:215645351 BARD1 A>C	2	215645351	215645351	A	C	BARD1	c.1247T>G	NM_000465.4	NP_000456.2:p.(Leu416Arg)	NC_000002.11:g.215645351A>C	VUS	1 lab	5e7004c7df
10:117600911 ATRNL1 T>Alt too long to show for this DUP	10	117600911	117627815	T	Alt too long to show for this DUP	ATRNL1	c.3904-6476_4018+20313dup	NM_207303.4	NP_997186.1:p.?	NC_000010.10:g.117600912_117627815dup	VUS	1 lab	5e76dfd4b1
10:3817938 KLF6 Ref too long to show for this DEL>C	10	3817938	3829500	Ref too long to show for this DEL	C	KLF6				NC_000010.10:g.3817939_3829500del	VUS	1 lab	5e78985978
10:90701477 ACTA2 C>T	10	90701477	90701477	C	T	ACTA2	c.454+65G>A	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90701477C>T	(Likely) benign	1 lab	5e7afb7db5
14:23888471 MYH7 G>T	14	23888471	23888471	G	T	MYH7	c.3887C>A	NM_000257.4	NP_000248.2:p.(Ala1296Glu)	NC_000014.8:g.23888471G>T	VUS	1 lab	5e7c7b91f0
X:70460814 ZMYM3 G>A	X	70460814	70460814	G	A	ZMYM3	c.4029C>T	NM_001171162.1	NP_001164633.1:p.(Arg1343=)	NC_000023.10:g.70460814G>A	(Likely) benign	1 lab	5e7d2a96fe
10:90981887 LIPA T>G	10	90981887	90981887	T	G	LIPA	c.894+381A>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90981887T>G	(Likely) benign	1 lab	5e7d5837ce
6:32012318 TNXB C>T	6	32012318	32012318	C	T	TNXB	c.11097G>A	NM_019105.8	NP_061978.6:p.(Pro3699=)	NC_000006.11:g.32012318C>T	(Likely) benign	1 lab	5e7ea302f9
18:45396526 SMAD2 T>C	18	45396526	45396526	T	C	SMAD2	c.326+320A>G	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45396526T>C	(Likely) benign	1 lab	5e7fbd17ec
10:73270925 CDH23 G>A	10	73270925	73270925	G	A	CDH23	c.385G>A	NM_022124.6	NP_071407.4:p.(Ala129Thr)	NC_000010.10:g.73270925G>A	VUS	1 lab	5e801322d4
1:178412258 RASAL2 AC>A	1	178412258	178412259	AC	A	RASAL2	c.1377del	NM_170692.4	NP_733793.2:p.(Tyr460ThrfsTer11)	NC_000001.10:g.178412259del	VUS	1 lab	5e803f14a0
17:79225204 SLC38A10 G>A	17	79225204	79225204	G	A	SLC38A10	c.2154C>T	NM_138570.4	NP_612637.1:p.(Leu718=)	NC_000017.10:g.79225204G>A	(Likely) benign	1 lab	5e81c8ea17
1:3328850 PRDM16 G>A	1	3328850	3328850	G	A	PRDM16	c.2089G>A	NM_022114.4	NP_071397.3:p.(Ala697Thr)	NC_000001.10:g.3328850G>A	VUS	1 lab	5e81cd7fca
6:150719240 IYD G>A	6	150719240	150719240	G	A	IYD	c.737G>A	NM_203395.3	NP_981932.1:p.(Arg246Gln)	NC_000006.11:g.150719240G>A	(Likely) benign	1 lab	5e82d92aaa
12:125296399 SCARB1 C>A	12	125296399	125296399	C	A	SCARB1	c.726+17G>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296399C>A	(Likely) benign	1 lab	5e833a8288
X:25025259 ARX G>GAAGC	X	25025259	25025260	G	GAAGC	ARX	c.1416_1417insGCTT	NM_139058.3	NP_620689.1:p.(His473AlafsTer60)	NC_000023.10:g.25025259_25025260insAAGC	(Likely) pathogenic	1 lab	5e8367f562
12:21355537 SLCO1B1 G>A	12	21355537	21355537	G	A	SLCO1B1	c.1248G>A	NM_006446.5	NP_006437.3:p.(Val416=)	NC_000012.11:g.21355537G>A	(Likely) benign	1 lab	5e840d72bb
9:107547805 ABCA1 G>A	9	107547805	107547805	G	A	ABCA1	c.6517C>T	NM_005502.4	NP_005493.2:p.(Arg2173Trp)	NC_000009.11:g.107547805G>A	VUS	1 lab	5e8419532f
12:117993061 KSR2 A>G	12	117993061	117993061	A	G	KSR2	c.1431T>C	NM_173598.6	NP_775869.4:p.(Cys477=)	NC_000012.11:g.117993061A>G	(Likely) benign	1 lab	5e864f94e4
7:128485179 FLNC C>G	7	128485179	128485179	C	G	FLNC	c.3660C>G	NM_001458.5	NP_001449.3:p.(Phe1220Leu)	NC_000007.13:g.128485179C>G	VUS	1 lab	5e8651a515
19:11216263 LDLR C>A	19	11216263	11216263	C	A	LDLR	c.681C>A	NM_000527.5	NP_000518.1:p.(Asp227Glu)	NC_000019.9:g.11216263C>A	(Likely) pathogenic	1 lab	5e8ae37a99
2:48030651 MSH6 T>C	2	48030651	48030651	T	C	MSH6	c.3265T>C	NM_000179.3	NP_000170.1:p.(Leu1089=)	NC_000002.11:g.48030651T>C	(Likely) benign	1 lab	5e90801af3
11:47370606 MYBPC3 A>G	11	47370606	47370606	A	G	MYBPC3	c.655-514T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370606A>G	(Likely) benign	1 lab	5e915d4cc5
4:187000106 TLR3 C>T	4	187000106	187000106	C	T	TLR3	c.554C>T	NM_003265.3	NP_003256.1:p.(Ala185Val)	NC_000004.11:g.187000106C>T	(Likely) benign	1 lab	5e93f3e14a
9:107591292 ABCA1 T>G	9	107591292	107591292	T	G	ABCA1	c.2020A>C	NM_005502.4	NP_005493.2:p.(Met674Leu)	NC_000009.11:g.107591292T>G	VUS	1 lab	5e950bc170
2:21258576 APOB C>T	2	21258576	21258576	C	T	APOB	c.698G>A	NM_000384.3	NP_000375.3:p.(Arg233His)	NC_000002.11:g.21258576C>T	(Likely) benign	1 lab	5e950d14d7
3:38622696 SCN5A A>C	3	38622696	38622696	A	C	SCN5A	c.2954T>G	NM_198056.3	NP_932173.1:p.(Leu985Arg)	NC_000003.11:g.38622696A>C	VUS	1 lab	5e950d358c
16:7629861 RBFOX1 G>A	16	7629861	7629861	G	A	RBFOX1	c.353G>A	NM_018723.4	NP_061193.2:p.(Arg118Gln)	NC_000016.9:g.7629861G>A	VUS	1 lab	5e95e6edad
1:161277109 MPZ A>T	1	161277109	161277109	A	T	MPZ	c.173T>A	NM_000530.8	NP_000521.2:p.(Val58Asp)	NC_000001.10:g.161277109A>T	(Likely) pathogenic	1 lab	5e960ea697
16:28341758 MISSING Ref too long to show for this DEL>G	16	28341758	29351827	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28341760_29351827del	(Likely) pathogenic	1 lab	5e9670f7e6
9:107594364 ABCA1 A>G	9	107594364	107594364	A	G	ABCA1	c.1510-256T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594364A>G	(Likely) benign	1 lab	5e9817ccf9
2:21245790 APOB C>T	2	21245790	21245790	C	T	APOB	c.2729G>A	NM_000384.3	NP_000375.3:p.(Gly910Asp)	NC_000002.11:g.21245790C>T	(Likely) benign	1 lab	5e9af0cf24
12:21331895 SLCO1B1 G>T	12	21331895	21331895	G	T	SLCO1B1	c.668G>T	NM_006446.5	NP_006437.3:p.(Gly223Val)	NC_000012.11:g.21331895G>T	(Likely) benign	1 lab	5e9c297e15
19:17088173 CPAMD8 TCTAC>T	19	17088173	17088179	TCTAC	T	CPAMD8	c.1758+1_1758+4del	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17088176_17088179del	(Likely) pathogenic	1 lab	5e9cbcfb3c
7:151433088 PRKAG2 G>A	7	151433088	151433088	G	A	PRKAG2	c.-9C>T	NM_001304527.2	NP_001291456.1:p.?	NC_000007.13:g.151433088G>A	(Likely) benign	1 lab	5ea0ccf958
2:241723204 KIF1A A>T	2	241723204	241723204	A	T	KIF1A	c.750T>A	NM_001244008.2	NP_001230937.1:p.(Ala250=)	NC_000002.11:g.241723204A>T	VUS	1 lab	5ea25af7a2
X:49083475 CACNA1F G>A	X	49083475	49083475	G	A	CACNA1F	c.1233C>T	NM_005183.4	NP_005174.2:p.(Ala411=)	NC_000023.10:g.49083475G>A	(Likely) benign	1 lab	5ea5167a8c
3:52438512 BAP1 C>G	3	52438512	52438512	C	G	BAP1	c.1207G>C	NM_004656.4	NP_004647.1:p.(Asp403His)	NC_000003.11:g.52438512C>G	VUS	1 lab	5ea685923c
19:42482089 ATP1A3 G>A	19	42482089	42482089	G	A	ATP1A3	c.1942C>T	NM_152296.5	NP_689509.1:p.(Arg648Trp)	NC_000019.9:g.42482089G>A	VUS	1 lab	5ea90a834d
17:48267578 COL1A1 C>T	17	48267578	48267578	C	T	COL1A1	c.2452-109G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267578C>T	(Likely) benign	1 lab	5ea9d31f6b
17:35299533 LHX1 A>T	17	35299533	35299533	A	T	LHX1	c.712A>T	NM_005568.5	NP_005559.2:p.(Met238Leu)	NC_000017.10:g.35299533A>T	VUS	1 lab	5ea9fd4264
12:1995419 CACNA2D4 C>T	12	1995419	1995419	C	T	CACNA2D4	c.963G>A	NM_172364.5	NP_758952.4:p.(Leu321=)	NC_000012.11:g.1995419C>T	(Likely) benign	1 lab	5eae51fba3
11:47367363 MYBPC3 AG>A	11	47367363	47367366	AG	A	MYBPC3	c.1090+394del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367366del	(Likely) benign	1 lab	5eb20ca4c2
15:48818470 FBN1 G>T	15	48818470	48818470	G	T	FBN1	c.863-18C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818470G>T	(Likely) benign	1 lab	5ebda25b50
8:59409646 CYP7A1 G>A	8	59409646	59409646	G	A	CYP7A1	c.425C>T	NM_000780.4	NP_000771.2:p.(Thr142Met)	NC_000008.10:g.59409646G>A	VUS	1 lab	5ebe4e741d
10:68280456 CTNNA3 G>A	10	68280456	68280456	G	A	CTNNA3	c.1450C>T	NM_013266.4	NP_037398.2:p.(Arg484Cys)	NC_000010.10:g.68280456G>A	(Likely) benign	1 lab	5ebfa79ad0
13:32906627 BRCA2 G>A	13	32906627	32906627	G	A	BRCA2	c.1012G>A	NM_000059.4	NP_000050.3:p.(Ala338Thr)	NC_000013.10:g.32906627G>A	(Likely) benign	1 lab	5ec07f2c37
19:11226821 LDLR C>T	19	11226821	11226821	C	T	LDLR	c.1638C>T	NM_000527.5	NP_000518.1:p.(Gly546=)	NC_000019.9:g.11226821C>T	(Likely) benign	1 lab	5ec263d2b3
19:11238745 LDLR CA>C	19	11238745	11238746	CA	C	LDLR	c.2374del	NM_000527.5	NP_000518.1:p.(Ile792LeufsTer137)	NC_000019.9:g.11238746del	(Likely) pathogenic	1 lab	5eca124a2b
6:41126732 TREM2 G>A	6	41126732	41126732	G	A	TREM2	c.555C>T	NM_018965.4	NP_061838.1:p.(Ile185=)	NC_000006.11:g.41126732G>A	(Likely) benign	1 lab	5eca165f67
20:2641220 IDH3B AT>A	20	2641220	2641221	AT	A	IDH3B	c.547del	NM_006899.5	NP_008830.2:p.(Ile183LeufsTer4)	NC_000020.10:g.2641221del	VUS	1 lab	5ed03e141f
3:57232938 HESX1 C>G	3	57232938	57232938	C	G	HESX1	c.200G>C	NM_003865.3	NP_003856.1:p.(Ser67Thr)	NC_000003.11:g.57232938C>G	VUS	1 lab	5ed12150c3
6:56707925 DST G>A	6	56707925	56707925	G	A	DST	c.19C>T	NM_183380.4	NP_899236.1:p.(Pro7Ser)	NC_000006.11:g.56707925G>A	(Likely) benign	1 lab	5ed1cf227c
10:13325835 PHYH C>T	10	13325835	13325835	C	T	PHYH	c.383G>A	NM_001037537.2	NP_001032626.1:p.(Gly128Glu)	NC_000010.10:g.13325835C>T	VUS	1 lab	5ed1ed4caa
8:100711884 VPS13B A>G	8	100711884	100711884	A	G	VPS13B	c.6253A>G	NM_017890.5	NP_060360.3:p.(Met2085Val)	NC_000008.10:g.100711884A>G	(Likely) benign	1 lab	5ed3ae9a15
16:89985654 MC1R C>T	16	89985654	89985654	C	T	MC1R	c.-13C>T	NM_002386.4	NP_002377.4:p.?	NC_000016.9:g.89985654C>T	(Likely) benign	1 lab	5ed8e0a800
3:57898126 SLMAP A>C	3	57898126	57898126	A	C	SLMAP	c.1667A>C	NM_001304420.3	NP_001291349.1:p.(His556Pro)	NC_000003.11:g.57898126A>C	(Likely) benign	1 lab	5edc8d90c2
15:89178769 MISSING Ref too long to show for this DEL>C	15	89178769	89255868	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.89178771_89255868del	VUS	1 lab	5ede4b8b1e
7:91671427 AKAP9 C>T	7	91671427	91671427	C	T	AKAP9	c.4985C>T	NM_005751.5	NP_005742.4:p.(Ala1662Val)	NC_000007.13:g.91671427C>T	(Likely) benign	1 lab	5edf688f8f
10:61956387 ANK3 A>G	10	61956387	61956387	A	G	ANK3	c.1690-4T>C	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956387A>G	(Likely) benign	1 lab	5eef72299f
11:65313899 LTBP3 G>A	11	65313899	65313899	G	A	LTBP3	c.2353+14C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65313899G>A	(Likely) benign	1 lab	5ee16201ed
1:147380684 GJA8 A>C	1	147380684	147380684	A	C	GJA8	c.602A>C	NM_005267.5	NP_005258.2:p.(Glu201Ala)	NC_000001.10:g.147380684A>C	VUS	1 lab	5ee27f6ff1
15:58840744 LIPC G>C	15	58840744	58840744	G	C	LIPC	c.1024G>C	NM_000236.3	NP_000227.2:p.(Val342Leu)	NC_000015.9:g.58840744G>C	VUS	1 lab	5ee40adb41
2:96965091 SNRNP200 G>A	2	96965091	96965091	G	A	SNRNP200	c.705C>T	NM_014014.5	NP_054733.2:p.(Val235=)	NC_000002.11:g.96965091G>A	(Likely) benign	1 lab	5ee452f4d6
1:237947672 RYR2 A>G	1	237947672	237947672	A	G	RYR2	c.12660A>G	NM_001035.3	NP_001026.2:p.(Glu4220=)	NC_000001.10:g.237947672A>G	(Likely) benign	1 lab	5ee623393c
19:49700059 TRPM4 T>G	19	49700059	49700059	T	G	TRPM4	c.2573T>G	NM_017636.4	NP_060106.2:p.(Leu858Arg)	NC_000019.9:g.49700059T>G	VUS	1 lab	5ee760f04e
17:48273002 COL1A1 G>A	17	48273002	48273002	G	A	COL1A1	c.1081C>T	NM_000088.4	NP_000079.2:p.(Arg361Ter)	NC_000017.10:g.48273002G>A	(Likely) pathogenic	1 lab	5eea49a38d
2:179399054 TTN G>A	2	179399054	179399054	G	A	TTN	c.102288C>T	NM_001267550.2	NP_001254479.2:p.(Thr34096=)	NC_000002.11:g.179399054G>A	(Likely) benign	1 lab	5eecc3faa0
17:10298674 MYH8 C>T	17	10298674	10298674	C	T	MYH8	c.4738G>A	NM_002472.3	NP_002463.2:p.(Ala1580Thr)	NC_000017.10:g.10298674C>T	VUS	1 lab	5eed2c31d1
10:54032083 PRKG1 C>T	10	54032083	54032083	C	T	PRKG1	c.1269-69C>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54032083C>T	(Likely) benign	1 lab	5eee3a7fb1
2:152461363 NEB C>T	2	152461363	152461363	C	T	NEB	c.12770G>A	NM_001271208.2	NP_001258137.2:p.(Arg4257His)	NC_000002.11:g.152461363C>T	(Likely) benign	1 lab	5eee534157
11:8959511 ASCL3 T>G	11	8959511	8959511	T	G	ASCL3	c.198A>C	NM_020646.2	NP_065697.1:p.(Gly66=)	NC_000011.9:g.8959511T>G	(Likely) benign	1 lab	5eee6b5732
15:67477460 SMAD3 C>T	15	67477460	67477460	C	T	SMAD3	c.1009+258C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67477460C>T	(Likely) benign	1 lab	5ef140c33f
15:48726913 FBN1 G>C	15	48726913	48726913	G	C	FBN1	c.6497-3C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48726913G>C	(Likely) pathogenic	1 lab	5ef23bf4b8
7:94052278 COL1A2 G>C	7	94052278	94052278	G	C	COL1A2	c.2413G>C	NM_000089.4	NP_000080.2:p.(Gly805Arg)	NC_000007.13:g.94052278G>C	(Likely) pathogenic	1 lab	5ef4487fbd
1:866511 SAMD11 C>CCCCT	1	866511	866526	C	CCCCT	SAMD11	c.305+54_305+57dup	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.866523_866526dup	(Likely) benign	1 lab	5ef6413162
2:179452286 TTN G>T	2	179452286	179452286	G	T	TTN	c.63750C>A	NM_001267550.2	NP_001254479.2:p.(Asn21250Lys)	NC_000002.11:g.179452286G>T	VUS	1 lab	5ef649a977
2:179397721 TTN C>T	2	179397721	179397721	C	T	TTN	c.103621G>A	NM_001267550.2	NP_001254479.2:p.(Asp34541Asn)	NC_000002.11:g.179397721C>T	VUS	1 lab	5ef8c21a59
6:42147151 GUCA1ANB-GUCA1A C>A	6	42147151	42147151	C	A	GUCA1ANB-GUCA1A	c.*10C>A	NM_000409.5	NP_000400.2:p.?	NC_000006.11:g.42147151C>A	(Likely) benign	1 lab	5ef946d0b9
3:121526235 IQCB1 T>C	3	121526235	121526235	T	C	IQCB1	c.543A>G	NM_001023570.4	NP_001018864.2:p.(Gly181=)	NC_000003.11:g.121526235T>C	(Likely) benign	1 lab	5ef9da008d
6:128774747 MISSING C>Alt too long to show for this DUP	6	128774747	128899203	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.128774749_128899203dup	VUS	1 lab	5efd40fba3
2:21225103 APOB T>C	2	21225103	21225103	T	C	APOB	c.13191A>G	NM_000384.3	NP_000375.3:p.(Thr4397=)	NC_000002.11:g.21225103T>C	(Likely) benign	1 lab	5f0197671e
12:2564718 MISSING Ref too long to show for this DEL>G	12	2564718	5499512	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.2564719_5499512del	(Likely) pathogenic	1 lab	5f05a3eb61
2:179502120 TTN C>T	2	179502120	179502120	C	T	TTN	c.33199G>A	NM_133378.4	NP_596869.4:p.(Ala11067Thr)	NC_000002.11:g.179502120C>T	VUS	1 lab	5f060be02e
11:48158536 PTPRJ C>CT	11	48158536	48158537	C	CT	PTPRJ	c.1874-19_1874-18insT	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48158536_48158537insT	(Likely) benign	1 lab	5f0b10f0ad
X:61781768 MISSING Ref too long to show for this DEL>A	X	61781768	63096780	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.61781770_63096780del	(Likely) pathogenic	1 lab	5f0c191d54
3:38797296 SCN10A A>G	3	38797296	38797296	A	G	SCN10A	c.1444T>C	NM_006514.4	NP_006505.4:p.(Tyr482His)	NC_000003.11:g.38797296A>G	(Likely) benign	1 lab	5f0e4b3650
3:32169601 GPD1L T>C	3	32169601	32169601	T	C	GPD1L	c.81T>C	NM_015141.4	NP_055956.1:p.(Asn27=)	NC_000003.11:g.32169601T>C	(Likely) benign	1 lab	5f0edadf4e
6:35478688 TULP1 TTC>T	6	35478688	35478696	TTC	T	TULP1	c.447_448del	NM_003322.6	NP_003313.3:p.(Lys150GlufsTer23)	NC_000006.11:g.35478695_35478696del	(Likely) pathogenic	1 lab	5f0f14b47b
X:100807928 ARMCX1 G>A	X	100807928	100807928	G	A	ARMCX1	c.15G>A	NM_016608.2	NP_057692.1:p.(Arg5=)	NC_000023.10:g.100807928G>A	(Likely) benign	1 lab	5f104c38f4
10:103535615 FGF8 G>A	10	103535615	103535615	G	A	FGF8	c.32+11C>T	NM_033163.5	NP_149353.1:p.?	NC_000010.10:g.103535615G>A	(Likely) benign	1 lab	5f10aab491
10:48413825 GDF2 G>C	10	48413825	48413825	G	C	GDF2	c.1043C>G	NM_016204.4	NP_057288.1:p.(Pro348Arg)	NC_000010.10:g.48413825G>C	VUS	1 lab	5f14a38fb9
6:170373079 MISSING Ref too long to show for this DEL>A	6	170373079	170911240	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.170373080_170911240del	(Likely) pathogenic	1 lab	5f14b37f5e
17:79865718 PCYT2 C>T	17	79865718	79865718	C	T	PCYT2	c.423G>A	NM_002861.5	NP_002852.1:p.(Thr141=)	NC_000017.10:g.79865718C>T	(Likely) benign	1 lab	5f151076cb
X:153609385 EMD C>T	X	153609385	153609385	C	T	EMD	c.593C>T	NM_000117.3	NP_000108.1:p.(Ser198Phe)	NC_000023.10:g.153609385C>T	VUS	1 lab	5f16209bec
6:123957898 TRDN C>T	6	123957898	123957898	C	T	TRDN	c.22+1G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123957898C>T	VUS	1 lab	5f1873e137
2:179623772 TTN G>T	2	179623772	179623772	G	T	TTN	c.10242C>A	NM_133378.4	NP_596869.4:p.(Tyr3414Ter)	NC_000002.11:g.179623772G>T	(Likely) pathogenic	1 lab	5f1b9ecd17
12:53722233 SP7 G>A	12	53722233	53722233	G	A	SP7	c.993C>T	NM_001173467.3	NP_001166938.1:p.(Cys331=)	NC_000012.11:g.53722233G>A	(Likely) benign	1 lab	5f1ed941d9
7:155596155 SHH C>A	7	155596155	155596155	C	A	SHH	c.828G>T	NM_000193.4	NP_000184.1:p.(Pro276=)	NC_000007.13:g.155596155C>A	(Likely) benign	1 lab	5f204eb346
12:125296428 SCARB1 G>A	12	125296428	125296428	G	A	SCARB1	c.714C>T	NM_001367981.1	NP_001354910.1:p.(Asn238=)	NC_000012.11:g.125296428G>A	(Likely) benign	1 lab	5f209bc1bb
16:921615 LMF1 C>T	16	921615	921615	C	T	LMF1	c.499-274G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921615C>T	(Likely) benign	1 lab	5f22ab64bd
1:55526840 PCSK9 C>G	1	55526840	55526840	C	G	PCSK9	c.1682-208C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55526840C>G	(Likely) benign	1 lab	5f2791e857
9:79936457 VPS13A A>G	9	79936457	79936457	A	G	VPS13A	c.5625A>G	NM_033305.3	NP_150648.2:p.(Leu1875=)	NC_000009.11:g.79936457A>G	(Likely) benign	1 lab	5f29070f91
2:188211112 CALCRL C>T	2	188211112	188211112	C	T	CALCRL	c.1185G>A	NM_005795.6	NP_005786.1:p.(Leu395=)	NC_000002.11:g.188211112C>T	(Likely) benign	1 lab	5f29f50f12
1:197053561 ASPM TA>T	1	197053561	197053576	TA	T	ASPM	c.10332-6del	NM_018136.5	NP_060606.3:p.?	NC_000001.10:g.197053576del	(Likely) benign	1 lab	5f2afe356a
7:40087445 CDK13 G>A	7	40087445	40087445	G	A	CDK13	c.2569G>A	NM_003718.5	NP_003709.3:p.(Gly857Arg)	NC_000007.13:g.40087445G>A	(Likely) pathogenic	1 lab	5f2bfe1b95
7:128414702 OPN1SW G>A	7	128414702	128414702	G	A	OPN1SW	c.528C>T	NM_001385125.1	NP_001372054.1:p.(Gly176=)	NC_000007.13:g.128414702G>A	(Likely) benign	1 lab	5f2f410ad3
9:87635220 NTRK2 G>A	9	87635220	87635220	G	A	NTRK2	c.2224G>A	NM_001369532.1	NP_001356461.1:p.(Val742Met)	NC_000009.11:g.87635220G>A	VUS	1 lab	5f30437117
X:32459445 DMD A>G	X	32459445	32459445	A	G	DMD	c.3787-14T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32459445A>G	(Likely) benign	1 lab	5f32fe31a8
20:62630943 PRPF6 C>T	20	62630943	62630943	C	T	PRPF6	c.867-13C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62630943C>T	(Likely) benign	1 lab	5f36020ebd
2:179530473 TTN A>G	2	179530473	179530473	A	G	TTN	c.35921T>C	NM_001267550.2	NP_001254479.2:p.(Met11974Thr)	NC_000002.11:g.179530473A>G	VUS	1 lab	5f39847e9a
16:920898 LMF1 C>T	16	920898	920898	C	T	LMF1	c.680-16G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920898C>T	(Likely) benign	1 lab	5f39db590a
9:98209722 PTCH1 G>A	9	98209722	98209722	G	A	PTCH1	c.3816C>T	NM_000264.5	NP_000255.2:p.(Pro1272=)	NC_000009.11:g.98209722G>A	(Likely) benign	1 lab	5f3d9215d4
15:73616060 HCN4 C>A	15	73616060	73616060	C	A	HCN4	c.2374G>T	NM_005477.3	NP_005468.1:p.(Ala792Ser)	NC_000015.9:g.73616060C>A	VUS	1 lab	5f3e57ad1f
2:47630533 MSH2 G>T	2	47630533	47630533	G	T	MSH2	c.203G>T	NM_000251.3	NP_000242.1:p.(Gly68Val)	NC_000002.11:g.47630533G>T	VUS	1 lab	5f4171cdae
2:179410209 TTN A>G	2	179410209	179410209	A	G	TTN	c.87924T>C	NM_133378.4	NP_596869.4:p.(Gly29308=)	NC_000002.11:g.179410209A>G	(Likely) benign	1 lab	5f41d9088c
8:8584342 MISSING Ref too long to show for this DEL>T	8	8584342	8702827	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.8584344_8702827del	VUS	1 lab	5f42d0a2ab
19:54080525 ZNF331 C>T	19	54080525	54080525	C	T	ZNF331	c.711C>T	NM_018555.6	NP_061025.5:p.(His237=)	NC_000019.9:g.54080525C>T	(Likely) benign	1 lab	5f5f61e02b
9:113196674 SVEP1 G>A	9	113196674	113196674	G	A	SVEP1	c.5001C>T	NM_153366.4	NP_699197.3:p.(Asn1667=)	NC_000009.11:g.113196674G>A	(Likely) benign	1 lab	5f4d9cc579
11:17544463 USH1C A>G	11	17544463	17544463	A	G	USH1C	c.887T>C	NM_153676.4	NP_710142.1:p.(Leu296Pro)	NC_000011.9:g.17544463A>G	VUS	1 lab	5f4dd8a74c
1:201332521 TNNT2 C>T	1	201332521	201332521	C	T	TNNT2	c.473G>A	NM_001276347.2	NP_001263276.1:p.(Arg158Gln)	NC_000001.10:g.201332521C>T	VUS	1 lab	5f4e7824b2
5:127616156 FBN2 T>C	5	127616156	127616156	T	C	FBN2	c.7013-147A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127616156T>C	(Likely) benign	1 lab	5f5084e34f
1:215820852 USH2A A>G	1	215820852	215820852	A	G	USH2A	c.14791+12T>C	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215820852A>G	(Likely) benign	1 lab	5f50e78f1e
6:112508790 LAMA4 G>A	6	112508790	112508790	G	A	LAMA4	c.828C>T	NM_001105206.3	NP_001098676.2:p.(Cys276=)	NC_000006.11:g.112508790G>A	(Likely) benign	1 lab	5f51cb531d
12:41410489 CNTN1 G>A	12	41410489	41410489	G	A	CNTN1	c.2190G>A	NM_001843.4	NP_001834.2:p.(Leu730=)	NC_000012.11:g.41410489G>A	(Likely) benign	1 lab	5f52169136
6:150715308 IYD G>A	6	150715308	150715308	G	A	IYD	c.604G>A	NM_001164694.2	NP_001158166.1:p.(Ala202Thr)	NC_000006.11:g.150715308G>A	(Likely) benign	1 lab	5f56f6b500
X:123667760 TENM1 A>Alt too long to show for this DUP	X	123667760	123678378	A	Alt too long to show for this DUP	TENM1	c.2651+2346_2652-3928dup	NM_001163278.2	NP_001156750.1:p.?	NC_000023.10:g.123667761_123678378dup	VUS	1 lab	5f583c4862
1:236897889 ACTN2 C>T	1	236897889	236897889	C	T	ACTN2	c.698-1046C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897889C>T	(Likely) benign	1 lab	5f5f575f24
17:34169461 TAF15 G>A	17	34169461	34169461	G	A	TAF15	c.1004G>A	NM_139215.3	NP_631961.1:p.(Arg335Gln)	NC_000017.10:g.34169461G>A	VUS	1 lab	5f622875fc
15:58860914 LIPC G>A	15	58860914	58860914	G	A	LIPC	c.1389-1G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58860914G>A	VUS	1 lab	5f62342508
15:28412872 HERC2 G>A	15	28412872	28412872	G	A	HERC2	c.10515C>T	NM_004667.6	NP_004658.3:p.(Ala3505=)	NC_000015.9:g.28412872G>A	(Likely) benign	1 lab	5f63b947d2
X:147024786 FMR1 C>T	X	147024786	147024786	C	T	FMR1	c.1411C>T	NM_002024.6	NP_002015.1:p.(Arg471Ter)	NC_000023.10:g.147024786C>T	(Likely) pathogenic	1 lab	5f65030003
1:6579607 PLEKHG5 C>T	1	6579607	6579607	C	T	PLEKHG5	c.-267G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6579607C>T	(Likely) benign	1 lab	5f6ffc9f07
4:103627 MISSING T>Alt too long to show for this DUP	4	103627	512828	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.103629_512828dup	VUS	1 lab	5f7020df87
2:21242600 APOB G>A	2	21242600	21242600	G	A	APOB	c.2994C>T	NM_000384.3	NP_000375.3:p.(Asp998=)	NC_000002.11:g.21242600G>A	(Likely) benign	1 lab	5f70d10403
16:904648 LMF1 C>T	16	904648	904648	C	T	LMF1	c.1189G>A	NM_001352018.2	NP_001338947.1:p.(Ala397Thr)	NC_000016.9:g.904648C>T	VUS	1 lab	5f72af649d
3:37523079 ITGA9 G>A	3	37523079	37523079	G	A	ITGA9	c.525G>A	NM_002207.3	NP_002198.2:p.(Thr175=)	NC_000003.11:g.37523079G>A	(Likely) benign	1 lab	5f74804145
19:11238761 LDLR G>T	19	11238761	11238761	G	T	LDLR	c.2389G>T	NM_000527.5	NP_000518.1:p.(Val797Leu)	NC_000019.9:g.11238761G>T	(Likely) pathogenic	1 lab	5f7495f4b5
12:50500648 GPD1 G>A	12	50500648	50500648	G	A	GPD1	c.560G>A	NM_005276.4	NP_005267.2:p.(Arg187His)	NC_000012.11:g.50500648G>A	VUS	1 lab	5f75762130
2:179443949 TTN G>A	2	179443949	179443949	G	A	TTN	c.67808C>T	NM_001267550.2	NP_001254479.2:p.(Ala22603Val)	NC_000002.11:g.179443949G>A	VUS	1 lab	5f7674015e
4:170327819 NEK1 C>T	4	170327819	170327819	C	T	NEK1	c.3302G>A	NM_001199397.3	NP_001186326.1:p.(Arg1101His)	NC_000004.11:g.170327819C>T	VUS	1 lab	5f77c251dd
4:100521712 MTTP T>A	4	100521712	100521712	T	A	MTTP	c.1068-10T>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521712T>A	(Likely) benign	1 lab	5f78d319e6
5:141617509 MISSING Ref too long to show for this DEL>G	5	141617509	141761887	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.141617511_141761887del	(Likely) pathogenic	1 lab	5f78d885bb
17:7918837 GUCY2D C>G	17	7918837	7918837	C	G	GUCY2D	c.2944+17C>G	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7918837C>G	(Likely) benign	1 lab	5f7ace0bc1
2:189853546 COL3A1 A>G	2	189853546	189853546	A	G	COL3A1	c.636+177A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853546A>G	(Likely) benign	1 lab	5f7e712ac3
22:21916212 MISSING A>Alt too long to show for this DUP	22	21916212	22281643	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21916218_22281643dup	VUS	1 lab	5f80bc1972
9:37737045 MISSING C>Alt too long to show for this DUP	9	37737045	37805050	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.37737047_37805050dup	VUS	1 lab	5f816c56b4
2:1418218 TPO T>C	2	1418218	1418218	T	C	TPO	c.38T>C	NM_000547.6	NP_000538.3:p.(Met13Thr)	NC_000002.11:g.1418218T>C	VUS	1 lab	5f816ebe31
8:22147420 PIWIL2 T>C	8	22147420	22147420	T	C	PIWIL2	c.1047T>C	NM_001135721.3	NP_001129193.1:p.(Ala349=)	NC_000008.10:g.22147420T>C	(Likely) benign	1 lab	5f82dfcaa2
10:95418840 PDE6C AT>A	10	95418840	95418846	AT	A	PDE6C	c.2145-15del	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95418846del	(Likely) benign	1 lab	5f85c7efa0
2:24933809 NCOA1 G>A	2	24933809	24933809	G	A	NCOA1	c.2428G>A	NM_001362950.1	NP_001349879.1:p.(Asp810Asn)	NC_000002.11:g.24933809G>A	(Likely) benign	1 lab	5f89b3e433
11:102056767 YAP1 G>A	11	102056767	102056767	G	A	YAP1	c.707G>A	NM_001282101.2	NP_001269030.1:p.(Trp236Ter)	NC_000011.9:g.102056767G>A	VUS	1 lab	5f8d486a79
15:85400724 ALPK3 C>G	15	85400724	85400724	C	G	ALPK3	c.2755C>G	NM_020778.5	NP_065829.4:p.(Pro919Ala)	NC_000015.9:g.85400724C>G	VUS	1 lab	5f8df4f617
5:89968380 ADGRV1 A>G	5	89968380	89968380	A	G	ADGRV1	c.4770A>G	NM_032119.4	NP_115495.3:p.(Ser1590=)	NC_000005.9:g.89968380A>G	(Likely) benign	1 lab	5f8ebe9fc3
14:23899848 MYH7 G>C	14	23899848	23899848	G	C	MYH7	c.920C>G	NM_000257.4	NP_000248.2:p.(Pro307Arg)	NC_000014.8:g.23899848G>C	VUS	1 lab	6187dbf23c
2:179669280 TTN A>G	2	179669280	179669280	A	G	TTN	c.90T>C	NM_133378.4	NP_596869.4:p.(Ser30=)	NC_000002.11:g.179669280A>G	(Likely) benign	1 lab	5f978908f0
9:107571782 ABCA1 G>A	9	107571782	107571782	G	A	ABCA1	c.4239C>T	NM_005502.4	NP_005493.2:p.(Gly1413=)	NC_000009.11:g.107571782G>A	(Likely) benign	1 lab	5f9965afa5
18:47118526 MISSING Ref too long to show for this DEL>T	18	47118526	47296081	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.47118528_47296081del	VUS	1 lab	5f99d8790b
11:47359459 MYBPC3 A>C	11	47359459	47359459	A	C	MYBPC3	c.2309-114T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359459A>C	(Likely) benign	1 lab	5f9a2be745
15:98292336 MISSING Ref too long to show for this DEL>G	15	98292336	102394710	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.98292337_102394710del	(Likely) pathogenic	1 lab	5f9a395abe
10:69934032 MYPN C>T	10	69934032	69934032	C	T	MYPN	c.2183C>T	NM_032578.4	NP_115967.2:p.(Pro728Leu)	NC_000010.10:g.69934032C>T	VUS	1 lab	5f9c29397d
22:22963391 MISSING Ref too long to show for this DEL>A	22	22963391	23661118	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22963392_23661118del	(Likely) pathogenic	1 lab	5f9c51a81a
19:11226796 LDLR C>A	19	11226796	11226796	C	A	LDLR	c.1613C>A	NM_000527.5	NP_000518.1:p.(Thr538Asn)	NC_000019.9:g.11226796C>A	VUS	1 lab	5f9c7c9f0a
2:202626242 ALS2 C>T	2	202626242	202626242	C	T	ALS2	c.475G>A	NM_020919.4	NP_065970.2:p.(Glu159Lys)	NC_000002.11:g.202626242C>T	(Likely) benign	1 lab	5f9cb166d1
16:56996972 CETP T>C	16	56996972	56996972	T	C	CETP	c.169T>C	NM_000078.3	NP_000069.2:p.(Tyr57His)	NC_000016.9:g.56996972T>C	VUS	1 lab	5f9d2213ed
1:19565368 EMC1 G>A	1	19565368	19565368	G	A	EMC1	c.1027-17C>T	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19565368G>A	(Likely) benign	1 lab	5f9dd81739
2:85361593 TCF7L1 G>T	2	85361593	85361593	G	T	TCF7L1	c.441+20G>T	NM_031283.3	NP_112573.1:p.?	NC_000002.11:g.85361593G>T	(Likely) benign	1 lab	5f9e1b2432
1:878447 SAMD11 C>T	1	878447	878447	C	T	SAMD11	c.1564+9C>T	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.878447C>T	(Likely) benign	1 lab	5fa1e1da0b
22:41065431 MISSING T>Alt too long to show for this DUP	22	41065431	41082043	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.41065433_41082043dup	VUS	1 lab	5fa2c4bc22
12:2558186 CACNA1C G>A	12	2558186	2558186	G	A	CACNA1C	c.522G>A	NM_199460.4	NP_955630.3:p.(Ala174=)	NC_000012.11:g.2558186G>A	(Likely) benign	1 lab	5fa2d5f494
1:12034814 PLOD1 C>G	1	12034814	12034814	C	G	PLOD1	c.2133C>G	NM_000302.4	NP_000293.2:p.(Leu711=)	NC_000001.10:g.12034814C>G	(Likely) benign	1 lab	5fa3b48347
16:88804363 PIEZO1 G>A	16	88804363	88804363	G	A	PIEZO1	c.999C>T	NM_001142864.4	NP_001136336.2:p.(Arg333=)	NC_000016.9:g.88804363G>A	(Likely) benign	1 lab	5fa47a0c2f
19:11230788 LDLR TATC>T	19	11230788	11230795	TATC	T	LDLR	c.1871_1873del	NM_000527.5	NP_000518.1:p.(Ile624del)	NC_000019.9:g.11230793_11230795del	(Likely) pathogenic	1 lab	5fa8f3e2d3
19:22574468 ZNF98 G>A	19	22574468	22574468	G	A	ZNF98	c.1569C>T	NM_001098626.2	NP_001092096.1:p.(Cys523=)	NC_000019.9:g.22574468G>A	(Likely) benign	1 lab	5facec5803
9:135221844 SETX T>C	9	135221844	135221844	T	C	SETX	c.192A>G	NM_015046.7	NP_055861.3:p.(Leu64=)	NC_000009.11:g.135221844T>C	(Likely) benign	1 lab	5fadb801e3
10:28574196 MISSING C>Alt too long to show for this DUP	10	28574196	28616419	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.28574197_28616419dup	VUS	1 lab	5fae159dce
10:124221312 HTRA1 G>T	10	124221312	124221312	G	T	HTRA1	c.144G>T	NM_002775.5	NP_002766.1:p.(Pro48=)	NC_000010.10:g.124221312G>T	(Likely) benign	1 lab	5fae2adad8
18:34192029 FHOD3 G>A	18	34192029	34192029	G	A	FHOD3	c.928G>A	NM_001281740.3	NP_001268669.1:p.(Asp310Asn)	NC_000018.9:g.34192029G>A	VUS	1 lab	5fae63c896
9:107574837 ABCA1 G>A	9	107574837	107574837	G	A	ABCA1	c.4050+18C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107574837G>A	(Likely) benign	1 lab	5fb9becce3
9:107547794 ABCA1 T>C	9	107547794	107547794	T	C	ABCA1	c.6528A>G	NM_005502.4	NP_005493.2:p.(Leu2176=)	NC_000009.11:g.107547794T>C	(Likely) benign	1 lab	5fb9c1f92a
9:35685460 TPM2 C>T	9	35685460	35685460	C	T	TPM2	c.463G>A	NM_001301227.2	NP_001288156.1:p.(Ala155Thr)	NC_000009.11:g.35685460C>T	(Likely) pathogenic	1 lab	5fba376cf6
17:36486041 GPR179 C>T	17	36486041	36486041	C	T	GPR179	c.3411G>A	NM_001004334.4	NP_001004334.3:p.(Ala1137=)	NC_000017.10:g.36486041C>T	(Likely) benign	1 lab	5fbb47444f
2:179410550 TTN A>G	2	179410550	179410550	A	G	TTN	c.95413T>C	NM_001267550.2	NP_001254479.2:p.(Phe31805Leu)	NC_000002.11:g.179410550A>G	VUS	1 lab	5fbb5c3f89
21:47409522 COL6A1 GGAA>G	21	47409522	47409527	GGAA	G	COL6A1	c.862_864del	NM_001848.3	NP_001839.2:p.(Arg288del)	NC_000021.8:g.47409525_47409527del	VUS	1 lab	5fbe0455a4
7:34661387 NPSR1-AS1 Ref too long to show for this DEL>G	7	34661387	34851870	Ref too long to show for this DEL	G	NPSR1-AS1				NC_000007.13:g.34661389_34851870del	VUS	1 lab	5fbe6f8f16
16:919917 LMF1 C>T	16	919917	919917	C	T	LMF1	c.983G>A	NM_001352018.2	NP_001338947.1:p.(Arg328His)	NC_000016.9:g.919917C>T	VUS	1 lab	5fbee611eb
6:56371457 DST A>C	6	56371457	56371457	A	C	DST	c.13005+8T>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56371457A>C	(Likely) benign	1 lab	5fc436069c
2:21231385 APOB G>T	2	21231385	21231385	G	T	APOB	c.8355C>A	NM_000384.3	NP_000375.3:p.(Asn2785Lys)	NC_000002.11:g.21231385G>T	VUS	1 lab	5fc919b67a
X:32632430 DMD T>C	X	32632430	32632430	T	C	DMD	c.1103A>G	NM_004010.3	NP_004001.1:p.(Gln368Arg)	NC_000023.10:g.32632430T>C	VUS	1 lab	5fcdecfbf4
16:53720462 RPGRIP1L C>T	16	53720462	53720462	C	T	RPGRIP1L	c.659G>A	NM_001308334.3	NP_001295263.1:p.(Gly220Asp)	NC_000016.9:g.53720462C>T	(Likely) benign	1 lab	5fcf5166c3
13:32914233 BRCA2 G>C	13	32914233	32914233	G	C	BRCA2	c.5741G>C	NM_000059.4	NP_000050.3:p.(Ser1914Thr)	NC_000013.10:g.32914233G>C	(Likely) benign	1 lab	5fd24d4caa
6:162683814 PRKN TA>T	6	162683814	162683835	TA	T	PRKN	c.172-18del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162683835del	(Likely) benign	1 lab	5fd3bc41f1
5:13793824 MISSING A>Alt too long to show for this DUP	5	13793824	14172157	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.13793827_14172157dup	(Likely) pathogenic	1 lab	5fd4d1d3e8
2:179496999 TTN G>A	2	179496999	179496999	G	A	TTN	c.43622C>T	NM_001267550.2	NP_001254479.2:p.(Ser14541Leu)	NC_000002.11:g.179496999G>A	VUS	1 lab	5fd54fb966
9:34372931 MYORG T>A	9	34372931	34372931	T	A	MYORG	c.11A>T	NM_020702.5	NP_065753.2:p.(Asn4Ile)	NC_000009.11:g.34372931T>A	(Likely) benign	1 lab	5fd5c4c104
2:21228905 APOB T>G	2	21228905	21228905	T	G	APOB	c.10835A>C	NM_000384.3	NP_000375.3:p.(Asp3612Ala)	NC_000002.11:g.21228905T>G	(Likely) benign	1 lab	5fd7803e29
15:48789507 FBN1 C>T	15	48789507	48789507	C	T	FBN1	c.2249G>A	NM_000138.5	NP_000129.3:p.(Cys750Tyr)	NC_000015.9:g.48789507C>T	(Likely) pathogenic	1 lab	5fd89d5032
17:4027660 MISSING T>Alt too long to show for this DUP	17	4027660	4523222	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.4027661_4523222dup	VUS	1 lab	5fd902fc39
2:44103017 ABCG8 T>C	2	44103017	44103017	T	C	ABCG8	c.1756+465T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44103017T>C	(Likely) benign	1 lab	5fdbf5d7a9
12:21331929 SLCO1B1 C>A	12	21331929	21331929	C	A	SLCO1B1	c.702C>A	NM_006446.5	NP_006437.3:p.(Tyr234Ter)	NC_000012.11:g.21331929C>A	(Likely) benign	1 lab	5fddba7266
17:73779879 MISSING A>Alt too long to show for this DUP	17	73779879	74350627	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.73779880_74350627dup	VUS	1 lab	5fe02e0bd3
16:56997042 CETP T>A	16	56997042	56997042	T	A	CETP	c.233+6T>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997042T>A	VUS	1 lab	5fe25f897e
X:38144863 RPGR A>C	X	38144863	38144863	A	C	RPGR	c.3389T>G	NM_001034853.2	NP_001030025.1:p.(Leu1130Ter)	NC_000023.10:g.38144863A>C	(Likely) pathogenic	1 lab	5fe2cc7b5f
14:65568306 MAX A>G	14	65568306	65568306	A	G	MAX	c.37-16T>C	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65568306A>G	(Likely) benign	1 lab	62f14fc60d
16:70316570 AARS1 G>C	16	70316570	70316570	G	C	AARS1	c.97C>G	NM_001605.3	NP_001596.2:p.(Pro33Ala)	NC_000016.9:g.70316570G>C	VUS	1 lab	5fe3c48ee7
2:179631127 TTN A>G	2	179631127	179631127	A	G	TTN	c.9684T>C	NM_001267550.2	NP_001254479.2:p.(Ser3228=)	NC_000002.11:g.179631127A>G	(Likely) benign	1 lab	5fe44ed193
7:94045501 COL1A2 C>T	7	94045501	94045501	C	T	COL1A2	c.1765-216C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94045501C>T	(Likely) benign	1 lab	5fe6a57acc
16:15818525 MYH11 G>A	16	15818525	15818525	G	A	MYH11	c.4116C>T	NM_001040113.2	NP_001035202.1:p.(His1372=)	NC_000016.9:g.15818525G>A	(Likely) benign	1 lab	5fe712ad1e
2:241666360 KIF1A G>T	2	241666360	241666360	G	T	KIF1A	c.4083-3C>A	NM_001379631.1	NP_001366560.1:p.?	NC_000002.11:g.241666360G>T	VUS	1 lab	5fe73f03b9
1:94512563 ABCA4 GC>G	1	94512563	94512565	GC	G	ABCA4	c.2829del	NM_000350.3	NP_000341.2:p.(Pro944GlnfsTer6)	NC_000001.10:g.94512565del	(Likely) pathogenic	1 lab	5fecd9ba95
11:2466673 KCNQ1 G>A	11	2466673	2466673	G	A	KCNQ1	c.345G>A	NM_000218.3	NP_000209.2:p.(Glu115=)	NC_000011.9:g.2466673G>A	(Likely) benign	1 lab	5fee3ad691
11:47373510 MYBPC3 G>C	11	47373510	47373510	G	C	MYBPC3	c.26-454C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373510G>C	(Likely) benign	1 lab	5feebad5b0
7:124491951 POT1 T>C	7	124491951	124491951	T	C	POT1	c.924A>G	NM_015450.3	NP_056265.2:p.(Gln308=)	NC_000007.13:g.124491951T>C	(Likely) benign	1 lab	5ff5ee56cc
6:80197598 LCA5 A>T	6	80197598	80197598	A	T	LCA5	c.1232-15T>A	NM_181714.4	NP_859065.2:p.?	NC_000006.11:g.80197598A>T	(Likely) benign	1 lab	63311b9e6f
15:67458797 SMAD3 C>T	15	67458797	67458797	C	T	SMAD3	c.533-320C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67458797C>T	(Likely) benign	1 lab	5ff7051802
2:189845283 COL3A1 A>C	2	189845283	189845283	A	C	COL3A1	c.80-4203A>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189845283A>C	(Likely) benign	1 lab	5ffbf8fa4f
2:206641239 NRP2 TCGCA>T	2	206641239	206641244	TCGCA	T	NRP2	c.2712_2715del	NM_018534.4	NP_061004.3:p.(His905AlafsTer34)	NC_000002.11:g.206641241_206641244del	(Likely) benign	1 lab	5ffd0ca540
15:31352763 TRPM1 A>G	15	31352763	31352763	A	G	TRPM1	c.1298T>C	NM_001252020.2	NP_001238949.1:p.(Phe433Ser)	NC_000015.9:g.31352763A>G	VUS	1 lab	6005be264e
1:91406656 ZNF644 G>A	1	91406656	91406656	G	A	ZNF644	c.255C>T	NM_201269.3	NP_958357.1:p.(Asn85=)	NC_000001.10:g.91406656G>A	(Likely) benign	1 lab	6006ee6ce2
6:32632593 HLA-DQB1 C>T	6	32632593	32632593	C	T	HLA-DQB1	c.361G>A	NM_001243961.2	NP_001230890.1:p.(Gly121Arg)	NC_000006.11:g.32632593C>T	(Likely) benign	1 lab	600960f018
8:10466776 RP1L1 C>T	8	10466776	10466776	C	T	RP1L1	c.4832G>A	NM_178857.6	NP_849188.4:p.(Arg1611Gln)	NC_000008.10:g.10466776C>T	(Likely) benign	1 lab	6009f4db7f
X:70444245 GJB1 C>T	X	70444245	70444245	C	T	GJB1	c.688C>T	NM_000166.6	NP_000157.1:p.(Arg230Cys)	NC_000023.10:g.70444245C>T	(Likely) pathogenic	1 lab	600f351d9d
22:50900482 SBF1 G>A	22	50900482	50900482	G	A	SBF1	c.2463C>T	NM_002972.4	NP_002963.2:p.(Asp821=)	NC_000022.10:g.50900482G>A	(Likely) benign	1 lab	6057b8ec67
12:21358948 SLCO1B1 G>A	12	21358948	21358948	G	A	SLCO1B1	c.1478G>A	NM_006446.5	NP_006437.3:p.(Ser493Asn)	NC_000012.11:g.21358948G>A	(Likely) benign	1 lab	60149f9ab0
16:68842334 CDH1 T>C	16	68842334	68842334	T	C	CDH1	c.395T>C	NM_004360.5	NP_004351.1:p.(Val132Ala)	NC_000016.9:g.68842334T>C	VUS	1 lab	601575584c
16:1574787 IFT140 T>G	16	1574787	1574787	T	G	IFT140	c.2995A>C	NM_014714.4	NP_055529.2:p.(Lys999Gln)	NC_000016.9:g.1574787T>G	VUS	1 lab	6016230123
1:145401437 MISSING Ref too long to show for this DEL>T	1	145401437	145833060	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.145401444_145833060del	(Likely) pathogenic	1 lab	601cced9ef
19:11222213 LDLR GA>G	19	11222213	11222214	GA	G	LDLR	c.1085del	NM_000527.5	NP_000518.1:p.(Asp362AlafsTer8)	NC_000019.9:g.11222214del	(Likely) pathogenic	1 lab	60207f2540
7:70896688 GALNT17 Ref too long to show for this DEL>A	7	70896688	70958304	Ref too long to show for this DEL	A	GALNT17	c.962+10598_962+72213del	NM_022479.3	NP_071924.1:p.?	NC_000007.13:g.70896689_70958304del	VUS	1 lab	60220d2ea5
2:179517258 TTN A>C	2	179517258	179517258	A	C	TTN	c.39054T>G	NM_001267550.2	NP_001254479.2:p.(Ala13018=)	NC_000002.11:g.179517258A>C	(Likely) benign	1 lab	602258995c
3:145824098 PLOD2 A>G	3	145824098	145824098	A	G	PLOD2	c.615+221T>C	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145824098A>G	(Likely) benign	1 lab	6022e322a3
X:51075841 NUDT10 A>G	X	51075841	51075841	A	G	NUDT10	c.24A>G	NM_153183.4	NP_694853.1:p.(Thr8=)	NC_000023.10:g.51075841A>G	(Likely) benign	1 lab	642a991a6a
10:112579943 RBM20 TG>T	10	112579943	112579944	TG	T	RBM20	c.2655+10del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112579944del	(Likely) benign	1 lab	6024a0375c
2:179399686 TTN C>T	2	179399686	179399686	C	T	TTN	c.101656G>A	NM_001267550.2	NP_001254479.2:p.(Glu33886Lys)	NC_000002.11:g.179399686C>T	VUS	1 lab	6028fe988e
X:9659765 TBL1X G>GA	X	9659765	9659766	G	GA	TBL1X	c.749+14_749+15insA	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9659765_9659766insA	(Likely) benign	1 lab	602c4ecd8a
5:150656793 MISSING G>Alt too long to show for this DUP	5	150656793	150946492	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.150656797_150946492dup	VUS	1 lab	602d479b64
3:119128498 ARHGAP31 G>T	3	119128498	119128498	G	T	ARHGAP31	c.1801G>T	NM_020754.4	NP_065805.2:p.(Glu601Ter)	NC_000003.11:g.119128498G>T	(Likely) pathogenic	1 lab	602ffa6096
12:2795370 CACNA1C C>T	12	2795370	2795370	C	T	CACNA1C	c.5719C>T	NM_001167623.2	NP_001161095.1:p.(Gln1907Ter)	NC_000012.11:g.2795370C>T	(Likely) pathogenic	1 lab	60380579e0
4:100527948 MTTP A>C	4	100527948	100527948	A	C	MTTP	c.1388A>C	NM_000253.4	NP_000244.2:p.(Lys463Thr)	NC_000004.11:g.100527948A>C	VUS	1 lab	60387299bf
2:179559588 TTN C>T	2	179559588	179559588	C	T	TTN	c.31316G>A	NM_001267550.2	NP_001254479.2:p.(Arg10439Lys)	NC_000002.11:g.179559588C>T	VUS	1 lab	6038aefdcb
12:125263039 SCARB1 C>T	12	125263039	125263039	C	T	SCARB1	c.1495G>A	NM_001082959.2	NP_001076428.1:p.(Gly499Arg)	NC_000012.11:g.125263039C>T	(Likely) benign	1 lab	603a95fc1d
9:107582231 ABCA1 T>C	9	107582231	107582231	T	C	ABCA1	c.3080A>G	NM_005502.4	NP_005493.2:p.(Lys1027Arg)	NC_000009.11:g.107582231T>C	VUS	1 lab	603bb94fa1
2:233195514 DIS3L2 C>G	2	233195514	233195514	C	G	DIS3L2	c.2010+28C>G	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233195514C>G	(Likely) benign	1 lab	603c3a026d
2:44099476 ABCG8 GC>G	2	44099476	44099482	GC	G	ABCG8	c.1211+37del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099482del	(Likely) benign	1 lab	603c486b24
14:23886701 MYH7 C>A	14	23886701	23886701	C	A	MYH7	c.4353+11G>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886701C>A	(Likely) benign	1 lab	603dab74f8
12:32760957 FGD4 C>T	12	32760957	32760957	C	T	FGD4	c.28C>T	NM_001304484.2	NP_001291413.1:p.(Arg10Trp)	NC_000012.11:g.32760957C>T	VUS	1 lab	603e715b47
8:133925497 TG C>T	8	133925497	133925497	C	T	TG	c.4365C>T	NM_003235.5	NP_003226.4:p.(Asp1455=)	NC_000008.10:g.133925497C>T	(Likely) benign	1 lab	603fb35ed1
15:42682247 CAPN3 C>T	15	42682247	42682247	C	T	CAPN3	c.898C>T	NM_000070.3	NP_000061.1:p.(Gln300Ter)	NC_000015.9:g.42682247C>T	(Likely) pathogenic	1 lab	6040990b8b
2:44079768 ABCG8 G>C	2	44079768	44079768	G	C	ABCG8	c.725G>C	NM_022437.3	NP_071882.1:p.(Gly242Ala)	NC_000002.11:g.44079768G>C	VUS	1 lab	6042127816
2:179435660 TTN CA>C	2	179435660	179435664	CA	C	TTN	c.75198del	NM_001267550.2	NP_001254479.2:p.(Phe25066LeufsTer3)	NC_000002.11:g.179435664del	(Likely) pathogenic	1 lab	604222f58e
6:72968716 RIMS1 A>G	6	72968716	72968716	A	G	RIMS1	c.2955A>G	NM_014989.6	NP_055804.2:p.(Arg985=)	NC_000006.11:g.72968716A>G	(Likely) benign	1 lab	6046409dc0
12:125270726 SCARB1 C>T	12	125270726	125270726	C	T	SCARB1	c.1578G>A	NM_001367981.1	NP_001354910.1:p.(Ala526=)	NC_000012.11:g.125270726C>T	(Likely) benign	1 lab	604becfe77
10:81599814 MISSING C>Alt too long to show for this DUP	10	81599814	81976925	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.81599815_81976925dup	VUS	1 lab	604c3963d3
10:90983550 LIPA G>A	10	90983550	90983550	G	A	LIPA	c.713C>T	NM_000235.4	NP_000226.2:p.(Ala238Val)	NC_000010.10:g.90983550G>A	VUS	1 lab	604cd42a02
3:37059088 MLH1 C>G	3	37059088	37059088	C	G	MLH1	c.882C>G	NM_000249.4	NP_000240.1:p.(Leu294=)	NC_000003.11:g.37059088C>G	(Likely) benign	1 lab	604e91d08f
X:100513506 DRP2 C>T	X	100513506	100513506	C	T	DRP2	c.2599C>T	NM_001939.3	NP_001930.2:p.(Leu867=)	NC_000023.10:g.100513506C>T	(Likely) benign	1 lab	6057d28120
20:4680025 PRNP C>T	20	4680025	4680025	C	T	PRNP	c.159C>T	NM_000311.5	NP_000302.1:p.(Gly53=)	NC_000020.10:g.4680025C>T	(Likely) benign	1 lab	60589ebba3
17:19555976 ALDH3A2 T>C	17	19555976	19555976	T	C	ALDH3A2	c.471+31T>C	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19555976T>C	(Likely) benign	1 lab	605d6796f9
1:147399548 MISSING Ref too long to show for this DEL>T	1	147399548	147509544	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.147399550_147509544del	VUS	1 lab	6060d56146
8:144297667 GPIHBP1 T>C	8	144297667	144297667	T	C	GPIHBP1	c.*274T>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297667T>C	(Likely) benign	1 lab	60613efb00
19:11311514 DOCK6 G>C	19	11311514	11311514	G	C	DOCK6	c.5833-16C>G	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11311514G>C	(Likely) benign	1 lab	6062734d01
22:51143309 SHANK3 G>C	22	51143309	51143309	G	C	SHANK3	c.2121+19G>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51143309G>C	(Likely) benign	1 lab	60650639dc
17:48278767 COL1A1 C>T	17	48278767	48278767	C	T	COL1A1	c.103+5G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48278767C>T	(Likely) pathogenic	1 lab	60666fa475
6:146007166 EPM2A G>A	6	146007166	146007166	G	A	EPM2A	c.62+92C>T	NM_001360071.2	NP_001347000.1:p.?	NC_000006.11:g.146007166G>A	(Likely) benign	1 lab	6067250e85
11:47353387 MYBPC3 G>T	11	47353387	47353387	G	T	MYBPC3	c.*26+9C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353387G>T	(Likely) benign	1 lab	6067f87f2d
1:161275929 MPZ G>GGGGAAATTGCACAAGCC	1	161275929	161275931	G	GGGGAAATTGCACAAGCC	MPZ	c.613_614insGGCTTGTGCAATTTCCC	NM_000530.8	NP_000521.2:p.(Pro205ArgfsTer53)	NC_000001.10:g.161275930_161275931insGGAAATTGCACAAGCCG	(Likely) pathogenic	1 lab	60686515bb
9:80537236 GNAQ C>T	9	80537236	80537236	C	T	GNAQ	c.162G>A	NM_002072.5	NP_002063.2:p.(Thr54=)	NC_000009.11:g.80537236C>T	(Likely) benign	1 lab	606cb1407b
18:47110279 LIPG T>G	18	47110279	47110279	T	G	LIPG	c.1376+135T>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47110279T>G	(Likely) benign	1 lab	6072427d2f
20:62659087 PRPF6 G>C	20	62659087	62659087	G	C	PRPF6	c.2337G>C	NM_012469.4	NP_036601.2:p.(Leu779=)	NC_000020.10:g.62659087G>C	(Likely) benign	1 lab	6072dd16de
16:77353794 ADAMTS18 C>T	16	77353794	77353794	C	T	ADAMTS18	c.2484G>A	NM_199355.4	NP_955387.1:p.(Pro828=)	NC_000016.9:g.77353794C>T	VUS	1 lab	6078418da0
4:79442733 FRAS1 C>T	4	79442733	79442733	C	T	FRAS1	c.10597C>T	NM_025074.7	NP_079350.5:p.(Arg3533Ter)	NC_000004.11:g.79442733C>T	(Likely) pathogenic	1 lab	607a7883c4
9:38418677 MISSING Ref too long to show for this DEL>T	9	38418677	38425066	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.38418680_38425066del	VUS	1 lab	6081e64296
11:47372154 MYBPC3 G>GCCTC	11	47372154	47372155	G	GCCTC	MYBPC3	c.304_305insGAGG	NM_000256.3	NP_000247.2:p.(Pro102ArgfsTer12)	NC_000011.9:g.47372154_47372155insCCTC	(Likely) pathogenic	1 lab	6082392ecb
16:28883256 SH2B1 C>T	16	28883256	28883256	C	T	SH2B1	c.1465C>T	NM_015503.3	NP_056318.2:p.(Pro489Ser)	NC_000016.9:g.28883256C>T	VUS	1 lab	6082c109aa
12:125348222 SCARB1 G>C	12	125348222	125348222	G	C	SCARB1	c.45C>G	NM_005505.5	NP_005496.4:p.(Gly15=)	NC_000012.11:g.125348222G>C	(Likely) benign	1 lab	6084ee67f3
15:48756075 FBN1 C>T	15	48756075	48756075	C	T	FBN1	c.5065+21G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756075C>T	(Likely) benign	1 lab	6087a69606
16:88787781 PIEZO1 C>T	16	88787781	88787781	C	T	PIEZO1	c.5461G>A	NM_001142864.4	NP_001136336.2:p.(Gly1821Ser)	NC_000016.9:g.88787781C>T	(Likely) benign	1 lab	6087fe28d8
9:130219680 LRSAM1 G>A	9	130219680	130219680	G	A	LRSAM1	c.252+8G>A	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130219680G>A	(Likely) benign	1 lab	60883da4bd
6:30610626 ATAT1 G>C	6	30610626	30610626	G	C	ATAT1	c.806G>C	NM_024909.5	NP_079185.2:p.(Arg269Pro)	NC_000006.11:g.30610626G>C	(Likely) benign	1 lab	6089ba44a1
22:29095917 CHEK2 C>T	22	29095917	29095917	C	T	CHEK2	c.917G>A	NM_007194.4	NP_009125.1:p.(Gly306Glu)	NC_000022.10:g.29095917C>T	VUS	1 lab	608a490c79
7:138602466 KIAA1549 C>T	7	138602466	138602466	C	T	KIAA1549	c.1906G>A	NM_001164665.2	NP_001158137.1:p.(Gly636Ser)	NC_000007.13:g.138602466C>T	(Likely) benign	1 lab	608afa9dea
1:26795532 DHDDS C>G	1	26795532	26795532	C	G	DHDDS	c.915C>G	NM_024887.4	NP_079163.2:p.(Ala305=)	NC_000001.10:g.26795532C>G	(Likely) benign	1 lab	608bb77f17
3:38991567 SCN11A C>A	3	38991567	38991567	C	A	SCN11A	c.267+20G>T	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38991567C>A	(Likely) benign	1 lab	6092a7f5c8
7:100274007 GNB2 T>A	7	100274007	100274007	T	A	GNB2	c.57+62T>A	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100274007T>A	(Likely) benign	1 lab	6092e64877
3:49749954 RNF123 C>T	3	49749954	49749954	C	T	RNF123	c.2539C>T	NM_022064.5	NP_071347.2:p.(Arg847Trp)	NC_000003.11:g.49749954C>T	VUS	1 lab	609303717b
12:80998858 PTPRQ A>T	12	80998858	80998858	A	T	PTPRQ	c.4630A>T	NM_001145026.2	NP_001138498.1:p.(Asn1544Tyr)	NC_000012.11:g.80998858A>T	(Likely) pathogenic	1 lab	609338edbe
9:107579677 ABCA1 A>C	9	107579677	107579677	A	C	ABCA1	c.3471T>G	NM_005502.4	NP_005493.2:p.(Ser1157Arg)	NC_000009.11:g.107579677A>C	VUS	1 lab	609473219d
16:904668 LMF1 C>T	16	904668	904668	C	T	LMF1	c.1568G>A	NM_022773.4	NP_073610.2:p.(Arg523His)	NC_000016.9:g.904668C>T	(Likely) benign	1 lab	609a409fd7
5:127710350 FBN2 G>C	5	127710350	127710350	G	C	FBN2	c.2066C>G	NM_001999.4	NP_001990.2:p.(Ala689Gly)	NC_000005.9:g.127710350G>C	VUS	1 lab	609e8a453c
18:25532304 CDH2 T>C	18	25532304	25532304	T	C	CDH2	c.2534A>G	NM_001792.5	NP_001783.2:p.(Asn845Ser)	NC_000018.9:g.25532304T>C	(Likely) benign	1 lab	60a1e6cc4e
15:65935364 SLC24A1 C>T	15	65935364	65935364	C	T	SLC24A1	c.2054-1401C>T	NM_004727.3	NP_004718.1:p.?	NC_000015.9:g.65935364C>T	(Likely) benign	1 lab	60a21b2061
20:59987626 CDH4 Ref too long to show for this DEL>C	20	59987626	60145712	Ref too long to show for this DEL	C	CDH4	c.169+157636_170-172907del	NM_001794.5	NP_001785.2:p.?	NC_000020.10:g.59987629_60145712del	VUS	1 lab	60a3858eb2
6:116752139 DSE A>G	6	116752139	116752139	A	G	DSE	c.693A>G	NM_013352.4	NP_037484.1:p.(Leu231=)	NC_000006.11:g.116752139A>G	(Likely) benign	1 lab	60ae17eb6f
1:156849780 NTRK1 G>A	1	156849780	156849780	G	A	NTRK1	c.2047-11G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156849780G>A	(Likely) benign	1 lab	60b02acc85
1:46561090 MISSING Ref too long to show for this DEL>C	1	46561090	46668497	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.46561091_46668497del	VUS	1 lab	60b2bffc5d
15:72030333 THSD4 G>A	15	72030333	72030333	G	A	THSD4	c.1893G>A	NM_024817.2	NP_079093.2:p.(Thr631=)	NC_000015.9:g.72030333G>A	(Likely) benign	1 lab	60b2e17006
2:179606283 TTN T>C	2	179606283	179606283	T	C	TTN	c.11677A>G	NM_001267550.2	NP_001254479.2:p.(Met3893Val)	NC_000002.11:g.179606283T>C	VUS	1 lab	60b4fe272a
14:64557567 SYNE2 C>T	14	64557567	64557567	C	T	SYNE2	c.11794-17C>T	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64557567C>T	(Likely) benign	1 lab	60b7cf329a
19:11221357 LDLR G>T	19	11221357	11221357	G	T	LDLR	c.970G>T	NM_000527.5	NP_000518.1:p.(Gly324Cys)	NC_000019.9:g.11221357G>T	(Likely) pathogenic	1 lab	60b844214e
2:73829294 ALMS1 C>CT	2	73829294	73829304	C	CT	ALMS1	c.12118-8dup	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73829304dup	(Likely) benign	1 lab	60c104ccf7
22:17465415 GAB4 Ref too long to show for this DEL>C	22	17465415	17477933	Ref too long to show for this DEL	C	GAB4	c.175-4867_686+3434del	NM_001037814.1	NP_001032903.1:p.?	NC_000022.10:g.17465416_17477933del	VUS	1 lab	60c124e243
6:75893708 COL12A1 G>A	6	75893708	75893708	G	A	COL12A1	c.1150C>T	NM_004370.6	NP_004361.3:p.(Pro384Ser)	NC_000006.11:g.75893708G>A	VUS	1 lab	60c2efd4f4
2:179453515 TTN CTCT>C	2	179453515	179453522	CTCT	C	TTN	c.62934_62936del	NM_001267550.2	NP_001254479.2:p.(Glu20979del)	NC_000002.11:g.179453520_179453522del	VUS	1 lab	60c303ee71
3:1444067 MISSING G>Alt too long to show for this DUP	3	1444067	1515915	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.1444068_1515915dup	VUS	1 lab	60c319ed2c
7:100411281 EPHB4 G>A	7	100411281	100411281	G	A	EPHB4	c.1749C>T	NM_004444.5	NP_004435.3:p.(Ile583=)	NC_000007.13:g.100411281G>A	(Likely) benign	1 lab	60c46e93d4
14:90570991 MISSING A>Alt too long to show for this DUP	14	90570991	90807279	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.90570994_90807279dup	VUS	1 lab	60c5ae76d2
18:45394736 SMAD2 T>TA	18	45394736	45394737	T	TA	SMAD2	c.612dup	NM_001003652.4	NP_001003652.1:p.(Asn205Ter)	NC_000018.9:g.45394737dup	(Likely) pathogenic	1 lab	60c9e0afde
15:52697548 MYO5A G>A	15	52697548	52697548	G	A	MYO5A	c.989C>T	NM_000259.3	NP_000250.3:p.(Ala330Val)	NC_000015.9:g.52697548G>A	VUS	1 lab	60caae3dcc
14:64692116 SYNE2 C>T	14	64692116	64692116	C	T	SYNE2	c.20596C>T	NM_182914.3	NP_878918.2:p.(Leu6866=)	NC_000014.8:g.64692116C>T	(Likely) benign	1 lab	60cd0c47ac
2:105977729 FHL2 C>G	2	105977729	105977729	C	G	FHL2	c.*11G>C	NM_001318899.2	NP_001305828.1:p.?	NC_000002.11:g.105977729C>G	(Likely) benign	1 lab	60cedd7228
2:56108988 EFEMP1 G>T	2	56108988	56108988	G	T	EFEMP1	c.518-119C>A	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56108988G>T	(Likely) benign	1 lab	60d1357732
2:44078841 ABCG8 T>A	2	44078841	44078841	T	A	ABCG8	c.441T>A	NM_022437.3	NP_071882.1:p.(Cys147Ter)	NC_000002.11:g.44078841T>A	(Likely) pathogenic	1 lab	60d2348fdc
3:14193818 XPC C>A	3	14193818	14193818	C	A	XPC	c.2115+17G>T	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14193818C>A	(Likely) benign	1 lab	60d736f301
5:148418039 SH3TC2 T>TA	5	148418039	148418040	T	TA	SH3TC2	c.819dup	NM_024577.4	NP_078853.2:p.(Lys274Ter)	NC_000005.9:g.148418040dup	(Likely) pathogenic	1 lab	60db96121e
12:69986745 CCT2 G>A	12	69986745	69986745	G	A	CCT2	c.610-11G>A	NM_001198842.2	NP_001185771.1:p.?	NC_000012.11:g.69986745G>A	(Likely) benign	1 lab	60dbcd9fbd
8:87738888 CNGB3 A>G	8	87738888	87738888	A	G	CNGB3	c.212-3T>C	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87738888A>G	(Likely) benign	1 lab	60debee33c
16:3640324 SLX4 G>A	16	3640324	3640324	G	A	SLX4	c.3315C>T	NM_032444.4	NP_115820.2:p.(Ser1105=)	NC_000016.9:g.3640324G>A	(Likely) benign	1 lab	60ded832db
6:110146475 FIG4 C>T	6	110146475	110146475	C	T	FIG4	c.*7C>T	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110146475C>T	(Likely) benign	1 lab	613a418003
X:133957460 PABIR3 Ref too long to show for this DEL>A	X	133957460	133977897	Ref too long to show for this DEL	A	PABIR3	c.190-5793_247-1338del	NM_001388447.1	NP_001375376.1:p.?	NC_000023.10:g.133957463_133977897del	VUS	1 lab	60dfcf2026
2:179429962 TTN C>T	2	179429962	179429962	C	T	TTN	c.80897G>A	NM_001267550.2	NP_001254479.2:p.(Ser26966Asn)	NC_000002.11:g.179429962C>T	VUS	1 lab	60e22ad428
X:49075327 CACNA1F G>T	X	49075327	49075327	G	T	CACNA1F	c.2766+14C>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49075327G>T	(Likely) benign	1 lab	60e4e12e78
11:4107873 STIM1 C>T	11	4107873	4107873	C	T	STIM1	c.1641C>T	NM_001277961.3	NP_001264890.1:p.(Tyr547=)	NC_000011.9:g.4107873C>T	(Likely) benign	1 lab	60e7979aa9
22:50667859 TUBGCP6 A>G	22	50667859	50667859	A	G	TUBGCP6	c.1264T>C	NM_020461.4	NP_065194.3:p.(Leu422=)	NC_000022.10:g.50667859A>G	(Likely) benign	1 lab	60e8ecfc54
15:23889696 MAGEL2 G>T	15	23889696	23889696	G	T	MAGEL2	c.3194C>A	NM_019066.5	NP_061939.3:p.(Ala1065Asp)	NC_000015.9:g.23889696G>T	VUS	1 lab	60eb4ca25d
6:7582914 DSP C>T	6	7582914	7582914	C	T	DSP	c.5419C>T	NM_004415.4	NP_004406.2:p.(Gln1807Ter)	NC_000006.11:g.7582914C>T	(Likely) pathogenic	1 lab	60edaa2192
8:9600916 MISSING T>Alt too long to show for this DUP	8	9600916	10287977	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.9600917_10287977dup	VUS	1 lab	60edd1c42b
16:6950757 RBFOX1 Ref too long to show for this DEL>T	16	6950757	7144328	Ref too long to show for this DEL	T	RBFOX1	c.-15-151300_27+42229del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6950758_7144328del	(Likely) pathogenic	1 lab	60f4e8f180
9:107602732 ABCA1 G>A	9	107602732	107602732	G	A	ABCA1	c.882C>T	NM_005502.4	NP_005493.2:p.(Ser294=)	NC_000009.11:g.107602732G>A	(Likely) benign	1 lab	60f51ae624
9:79936579 VPS13A G>A	9	79936579	79936579	G	A	VPS13A	c.5747G>A	NM_033305.3	NP_150648.2:p.(Ser1916Asn)	NC_000009.11:g.79936579G>A	(Likely) benign	1 lab	60f6f43e33
12:46230737 ARID2 AATTAGGCCTTGACACATTAGG>A	12	46230737	46230759	AATTAGGCCTTGACACATTAGG	A	ARID2	c.988_1008del	NM_152641.4	NP_689854.2:p.(Leu330_Gly336del)	NC_000012.11:g.46230739_46230759del	VUS	1 lab	60fb9121f7
9:27185611 TEK C>A	9	27185611	27185611	C	A	TEK	c.1311C>A	NM_000459.5	NP_000450.3:p.(Phe437Leu)	NC_000009.11:g.27185611C>A	VUS	1 lab	60fe04c91a
18:25727760 CDH2 G>GA	18	25727760	25727774	G	GA	CDH2	c.61-13dup	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25727774dup	(Likely) benign	1 lab	60fff21f7e
2:179544123 TTN G>T	2	179544123	179544123	G	T	TTN	c.33685C>A	NM_001267550.2	NP_001254479.2:p.(Pro11229Thr)	NC_000002.11:g.179544123G>T	VUS	1 lab	6101012279
19:39002691 RYR1 C>T	19	39002691	39002691	C	T	RYR1	c.9173-21C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39002691C>T	(Likely) benign	1 lab	61052ea0bd
2:179615596 TTN G>T	2	179615596	179615596	G	T	TTN	c.11531C>A	NM_133379.5	NP_596870.2:p.(Ala3844Asp)	NC_000002.11:g.179615596G>T	VUS	1 lab	61066ceaf0
21:44488325 CBS C>T	21	44488325	44488325	C	T	CBS	c.316+294G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44488325C>T	(Likely) benign	1 lab	6108589e6e
6:16143356 MYLIP T>C	6	16143356	16143356	T	C	MYLIP	c.570T>C	NM_013262.4	NP_037394.2:p.(His190=)	NC_000006.11:g.16143356T>C	(Likely) benign	1 lab	610895f854
2:179413203 TTN A>G	2	179413203	179413203	A	G	TTN	c.93150T>C	NM_001267550.2	NP_001254479.2:p.(His31050=)	NC_000002.11:g.179413203A>G	(Likely) benign	1 lab	610cb165c5
6:66205247 EYS T>C	6	66205247	66205247	T	C	EYS	c.57A>G	NM_001292009.2	NP_001278938.1:p.(Ile19Met)	NC_000006.11:g.66205247T>C	VUS	1 lab	610dc7dee0
9:101890871 TGFBR1 T>G	9	101890871	101890871	T	G	TGFBR1	c.98-266T>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101890871T>G	(Likely) benign	1 lab	610dd4bf68
10:121411254 BAG3 C>T	10	121411254	121411254	C	T	BAG3	c.67C>T	NM_004281.4	NP_004272.2:p.(Pro23Ser)	NC_000010.10:g.121411254C>T	VUS	1 lab	610f37de4d
1:63063253 ANGPTL3 C>G	1	63063253	63063253	C	G	ANGPTL3	c.16C>G	NM_014495.4	NP_055310.1:p.(Leu6Val)	NC_000001.10:g.63063253C>G	VUS	1 lab	610fa6133c
X:47060930 UBA1 C>T	X	47060930	47060930	C	T	UBA1	c.732C>T	NM_003334.4	NP_003325.2:p.(Ser244=)	NC_000023.10:g.47060930C>T	(Likely) benign	1 lab	612527c986
12:125302402 SCARB1 C>T	12	125302402	125302402	C	T	SCARB1	c.127-149G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125302402C>T	(Likely) benign	1 lab	6114507c91
4:100515951 MTTP G>A	4	100515951	100515951	G	A	MTTP	c.820G>A	NM_000253.4	NP_000244.2:p.(Ala274Thr)	NC_000004.11:g.100515951G>A	(Likely) benign	1 lab	61173134d0
8:42873703 MISSING Ref too long to show for this DEL>A	8	42873703	42886405	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.42873704_42886405del	VUS	1 lab	611bc108c8
7:128034562 IMPDH1 C>T	7	128034562	128034562	C	T	IMPDH1	c.1642G>A	NM_000883.4	NP_000874.2:p.(Gly548Ser)	NC_000007.13:g.128034562C>T	VUS	1 lab	611c783c05
17:16181691 PIGL Ref too long to show for this DEL>C	17	16181691	16203520	Ref too long to show for this DEL	C	PIGL	c.336-21510_426+228del	NM_004278.4	NP_004269.1:p.?	NC_000017.10:g.16181692_16203520del	VUS	1 lab	611cf5f51e
1:237608789 RYR2 G>A	1	237608789	237608789	G	A	RYR2	c.1259G>A	NM_001035.3	NP_001026.2:p.(Arg420Gln)	NC_000001.10:g.237608789G>A	(Likely) pathogenic	1 lab	611d22fdc9
11:47358802 MYBPC3 C>A	11	47358802	47358802	C	A	MYBPC3	c.2602+140G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358802C>A	(Likely) benign	1 lab	612032cfaa
2:203065880 MISSING A>Alt too long to show for this DUP	2	203065880	203075202	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.203065881_203075202dup	VUS	1 lab	61216eec9d
1:55505655 PCSK9 G>A	1	55505655	55505655	G	A	PCSK9	c.145G>A	NM_174936.4	NP_777596.2:p.(Glu49Lys)	NC_000001.10:g.55505655G>A	(Likely) pathogenic	1 lab	6124097715
5:5464418 ICE1 T>C	5	5464418	5464418	T	C	ICE1	c.4971T>C	NM_015325.3	NP_056140.1:p.(Ser1657=)	NC_000005.9:g.5464418T>C	(Likely) benign	1 lab	6124f42ca5
7:128482683 FLNC G>T	7	128482683	128482683	G	T	FLNC	c.2320G>T	NM_001458.5	NP_001449.3:p.(Val774Leu)	NC_000007.13:g.128482683G>T	VUS	1 lab	6126e7b712
19:16595965 CALR3 A>G	19	16595965	16595965	A	G	CALR3	c.492+9T>C	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16595965A>G	(Likely) benign	1 lab	61273a77e4
12:992649 WNK1 G>A	12	992649	992649	G	A	WNK1	c.4358G>A	NM_001184985.2	NP_001171914.1:p.(Ser1453Asn)	NC_000012.11:g.992649G>A	VUS	1 lab	612c9a919f
2:98999847 CNGA3 G>A	2	98999847	98999847	G	A	CNGA3	c.396-4G>A	NM_001298.3	NP_001289.1:p.?	NC_000002.11:g.98999847G>A	(Likely) benign	1 lab	612d85ef8d
16:46781995 MYLK3 G>A	16	46781995	46781995	G	A	MYLK3	c.111C>T	NM_182493.3	NP_872299.2:p.(Asp37=)	NC_000016.9:g.46781995G>A	(Likely) benign	1 lab	612e4ec022
2:241683343 KIF1A G>A	2	241683343	241683343	G	A	KIF1A	c.3584+16C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241683343G>A	(Likely) benign	1 lab	613146de36
4:657634 PDE6B G>A	4	657634	657634	G	A	PDE6B	c.1996G>A	NM_000283.4	NP_000274.3:p.(Ala666Thr)	NC_000004.11:g.657634G>A	VUS	1 lab	61315dbb7f
4:88959745 PKD2 A>G	4	88959745	88959745	A	G	PKD2	c.1094+92A>G	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88959745A>G	(Likely) benign	1 lab	61330f4aa4
X:77359834 PGK1 C>T	X	77359834	77359834	C	T	PGK1	c.-4C>T	NM_000291.4	NP_000282.1:p.?	NC_000023.10:g.77359834C>T	(Likely) benign	1 lab	613454bf58
9:137623385 COL5A1 A>T	9	137623385	137623385	A	T	COL5A1	c.1208A>T	NM_000093.5	NP_000084.3:p.(Glu403Val)	NC_000009.11:g.137623385A>T	VUS	1 lab	6134a1a05b
19:50720940 MYH14 T>C	19	50720940	50720940	T	C	MYH14	c.474T>C	NM_001145809.2	NP_001139281.1:p.(Ile158=)	NC_000019.9:g.50720940T>C	(Likely) benign	1 lab	61375a4dde
22:41573761 EP300 A>G	22	41573761	41573761	A	G	EP300	c.6046A>G	NM_001429.4	NP_001420.2:p.(Met2016Val)	NC_000022.10:g.41573761A>G	(Likely) benign	1 lab	613a0d5b15
16:1005077 LMF1 C>T	16	1005077	1005077	C	T	LMF1	c.-361-411G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005077C>T	(Likely) benign	1 lab	613add848e
7:87041273 ABCB4 C>T	7	87041273	87041273	C	T	ABCB4	c.2860G>A	NM_018849.3	NP_061337.1:p.(Gly954Ser)	NC_000007.13:g.87041273C>T	(Likely) pathogenic	1 lab	613ee511d6
1:156084927 LMNA A>C	1	156084927	156084927	A	C	LMNA	c.218A>C	NM_170707.4	NP_733821.1:p.(Glu73Ala)	NC_000001.10:g.156084927A>C	VUS	1 lab	61422a742a
3:38592995 SCN5A C>T	3	38592995	38592995	C	T	SCN5A	c.4868G>A	NM_198056.3	NP_932173.1:p.(Arg1623Gln)	NC_000003.11:g.38592995C>T	(Likely) pathogenic	1 lab	6142a2c324
21:38128932 HLCS G>A	21	38128932	38128932	G	A	HLCS	c.1920C>T	NM_001242784.3	NP_001229713.1:p.(Val640=)	NC_000021.8:g.38128932G>A	(Likely) benign	1 lab	61438c0cf1
11:47354476 MYBPC3 G>GC	11	47354476	47354477	G	GC	MYBPC3	c.3378dup	NM_000256.3	NP_000247.2:p.(Pro1127AlafsTer22)	NC_000011.9:g.47354477dup	(Likely) pathogenic	1 lab	614710f46f
11:2608913 KCNQ1 G>C	11	2608913	2608913	G	C	KCNQ1	c.1242G>C	NM_000218.3	NP_000209.2:p.(Lys414Asn)	NC_000011.9:g.2608913G>C	VUS	1 lab	614758111a
7:128483373 FLNC G>C	7	128483373	128483373	G	C	FLNC	c.2641G>C	NM_001458.5	NP_001449.3:p.(Gly881Arg)	NC_000007.13:g.128483373G>C	VUS	1 lab	6148fe7f98
2:21229526 APOB A>G	2	21229526	21229526	A	G	APOB	c.10214T>C	NM_000384.3	NP_000375.3:p.(Phe3405Ser)	NC_000002.11:g.21229526A>G	(Likely) benign	1 lab	614b026744
8:62438530 ASPH A>G	8	62438530	62438530	A	G	ASPH	c.1900+6T>C	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62438530A>G	(Likely) benign	1 lab	614bb11ca1
15:48714264 FBN1 A>C	15	48714264	48714264	A	C	FBN1	c.7455T>G	NM_000138.5	NP_000129.3:p.(Asp2485Glu)	NC_000015.9:g.48714264A>C	VUS	1 lab	614dcbba64
2:114324054 MISSING Ref too long to show for this DEL>T	2	114324054	114393272	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.114324055_114393272del	VUS	1 lab	6153ece769
2:179473094 TTN G>T	2	179473094	179473094	G	T	TTN	c.52516C>A	NM_001267550.2	NP_001254479.2:p.(Leu17506Ile)	NC_000002.11:g.179473094G>T	VUS	1 lab	6154476090
7:33644820 BBS9 C>A	7	33644820	33644820	C	A	BBS9	c.2373C>A	NM_001348038.3	NP_001334967.1:p.(Leu791=)	NC_000007.13:g.33644820C>A	(Likely) benign	1 lab	61df99e38a
20:746423 SLC52A3 GTATCTGCCC>G	20	746423	746433	GTATCTGCCC	G	SLC52A3	c.-14_-6del	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.746425_746433del	(Likely) benign	1 lab	61557f2d46
13:39453002 FREM2 T>G	13	39453002	39453002	T	G	FREM2	c.8894T>G	NM_207361.6	NP_997244.4:p.(Phe2965Cys)	NC_000013.10:g.39453002T>G	VUS	1 lab	6156853e75
19:16589990 CALR3 G>A	19	16589990	16589990	G	A	CALR3	c.1107C>T	NM_145046.5	NP_659483.2:p.(Asn369=)	NC_000019.9:g.16589990G>A	(Likely) benign	1 lab	61568e572c
10:112541526 RBM20 G>A	10	112541526	112541526	G	A	RBM20	c.1159G>A	NM_001134363.3	NP_001127835.2:p.(Ala387Thr)	NC_000010.10:g.112541526G>A	VUS	1 lab	61576a385f
2:29294529 PCARE G>GC	2	29294529	29294532	G	GC	PCARE	c.2598dup	NM_001029883.3	NP_001025054.1:p.(Pro867AlafsTer240)	NC_000002.11:g.29294532dup	(Likely) pathogenic	1 lab	6157f6420f
6:35471599 TULP1 G>A	6	35471599	35471599	G	A	TULP1	c.1139C>T	NM_003322.6	NP_003313.3:p.(Thr380Met)	NC_000006.11:g.35471599G>A	(Likely) benign	1 lab	6158ce0fca
X:13774838 OFD1 A>C	X	13774838	13774838	A	C	OFD1	c.1363A>C	NM_003611.3	NP_003602.1:p.(Lys455Gln)	NC_000023.10:g.13774838A>C	VUS	1 lab	615998c347
10:92678744 ANKRD1 A>ATATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATATAT	(Likely) benign	1 lab	615b31c7b3
8:100712175 VPS13B AG>A	8	100712175	100712179	AG	A	VPS13B	c.6529+19del	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100712179del	(Likely) benign	1 lab	615b70d31f
3:132224134 DNAJC13 A>C	3	132224134	132224134	A	C	DNAJC13	c.4885-12A>C	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132224134A>C	(Likely) benign	1 lab	615ebc286f
2:44101092 ABCG8 C>T	2	44101092	44101092	C	T	ABCG8	c.1378C>T	NM_022437.3	NP_071882.1:p.(Pro460Ser)	NC_000002.11:g.44101092C>T	VUS	1 lab	6163260c89
1:152281641 FLG C>T	1	152281641	152281641	C	T	FLG	c.5721G>A	NM_002016.2	NP_002007.1:p.(Gly1907=)	NC_000001.10:g.152281641C>T	(Likely) benign	1 lab	617772fb3b
4:153249510 FBXW7 C>A	4	153249510	153249510	C	A	FBXW7	c.1268G>T	NM_033632.3	NP_361014.1:p.(Gly423Val)	NC_000004.11:g.153249510C>A	VUS	1 lab	61779b9465
19:11527628 RGL3 C>T	19	11527628	11527628	C	T	RGL3	c.253G>A	NM_001161616.3	NP_001155088.2:p.(Asp85Asn)	NC_000019.9:g.11527628C>T	(Likely) benign	1 lab	6177a1dfdf
20:22563367 FOXA2 G>C	20	22563367	22563367	G	C	FOXA2	c.513C>G	NM_021784.5	NP_068556.2:p.(Ile171Met)	NC_000020.10:g.22563367G>C	VUS	1 lab	617813c4de
12:76742015 BBS10 T>A	12	76742015	76742015	T	A	BBS10	c.124A>T	NM_024685.4	NP_078961.3:p.(Thr42Ser)	NC_000012.11:g.76742015T>A	VUS	1 lab	617a493db2
17:41277187 BRCA1 G>CC	17	41277187	41277187	G	CC	BRCA1	c.-20+101delinsGG	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41277187delinsCC	VUS	1 lab	61820debd3
5:141035174 ARAP3 G>C	5	141035174	141035174	G	C	ARAP3	c.4110+14C>G	NM_022481.6	NP_071926.4:p.?	NC_000005.9:g.141035174G>C	(Likely) benign	1 lab	618ea5431d
17:2239612 TSR1 G>A	17	2239612	2239612	G	A	TSR1	c.97+13C>T	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2239612G>A	(Likely) benign	1 lab	6191b63ca2
X:118906962 MISSING C>Alt too long to show for this DUP	X	118906962	118922898	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.118906967_118922898dup	VUS	1 lab	6195c4925d
16:929624 LMF1 G>A	16	929624	929624	G	A	LMF1	c.843C>T	NM_022773.4	NP_073610.2:p.(Leu281=)	NC_000016.9:g.929624G>A	(Likely) benign	1 lab	619b29a0ba
8:19818771 LPL A>AGGGGG	8	19818771	19818780	A	AGGGGG	LPL	c.1322+182_1322+186dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818776_19818780dup	(Likely) benign	1 lab	619e4453db
15:48717671 FBN1 GGTTGCACTC>G	15	48717671	48717683	GGTTGCACTC	G	FBN1	c.7339_7347del	NM_000138.5	NP_000129.3:p.(Glu2447_Asn2449del)	NC_000015.9:g.48717675_48717683del	(Likely) pathogenic	1 lab	619f7cb9f5
15:89753969 RLBP1 A>C	15	89753969	89753969	A	C	RLBP1	c.756T>G	NM_000326.5	NP_000317.1:p.(Asn252Lys)	NC_000015.9:g.89753969A>C	VUS	1 lab	61a42b5580
1:161276255 MPZ C>A	1	161276255	161276255	C	A	MPZ	c.449-1G>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161276255C>A	(Likely) pathogenic	1 lab	61a65a9cc7
2:86315928 POLR1A A>G	2	86315928	86315928	A	G	POLR1A	c.606T>C	NM_015425.6	NP_056240.2:p.(Ala202=)	NC_000002.11:g.86315928A>G	(Likely) benign	1 lab	61a831a7c8
2:73800617 MISSING T>Alt too long to show for this DUP	2	73800617	73890834	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.73800619_73890834dup	VUS	1 lab	61a8391173
7:128045862 IMPDH1 G>C	7	128045862	128045862	G	C	IMPDH1	c.312C>G	NM_000883.4	NP_000874.2:p.(Thr104=)	NC_000007.13:g.128045862G>C	(Likely) benign	1 lab	61aca3065d
1:103481315 COL11A1 A>G	1	103481315	103481315	A	G	COL11A1	c.1450-17T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103481315A>G	(Likely) benign	1 lab	61aee0a762
5:58511806 PDE4D G>A	5	58511806	58511806	G	A	PDE4D	c.456-12C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58511806G>A	(Likely) benign	1 lab	61afaaca1a
16:1634269 IFT140 G>A	16	1634269	1634269	G	A	IFT140	c.1308C>T	NM_014714.4	NP_055529.2:p.(Val436=)	NC_000016.9:g.1634269G>A	(Likely) benign	1 lab	61b1bfc91f
13:110822980 COL4A1 C>T	13	110822980	110822980	C	T	COL4A1	c.3656G>A	NM_001845.6	NP_001836.3:p.(Gly1219Glu)	NC_000013.10:g.110822980C>T	(Likely) pathogenic	1 lab	61b1c5ffa7
X:57703453 MISSING G>Alt too long to show for this DUP	X	57703453	58002180	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.57703457_58002180dup	VUS	1 lab	61b3ef0b89
19:16591413 CALR3 C>A	19	16591413	16591413	C	A	CALR3	c.1011+12G>T	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16591413C>A	(Likely) benign	1 lab	61b41692bc
2:44104155 ABCG8 A>G	2	44104155	44104155	A	G	ABCG8	c.1757-545A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104155A>G	(Likely) benign	1 lab	61ba1f6c93
8:145742038 RECQL4 G>C	8	145742038	145742038	G	C	RECQL4	c.465C>G	NM_004260.4	NP_004251.4:p.(Val155=)	NC_000008.10:g.145742038G>C	(Likely) benign	1 lab	61ba4caf27
12:1909159 CACNA2D4 C>T	12	1909159	1909159	C	T	CACNA2D4	c.2974+7G>A	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1909159C>T	(Likely) benign	1 lab	61be74f971
1:92754584 GLMN A>G	1	92754584	92754584	A	G	GLMN	c.519T>C	NM_053274.3	NP_444504.1:p.(Leu173=)	NC_000001.10:g.92754584A>G	(Likely) benign	1 lab	61bf918ad4
6:32011926 TNXB C>T	6	32011926	32011926	C	T	TNXB	c.11258-20G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011926C>T	(Likely) benign	1 lab	61bfd2207e
4:178147772 MISSING Ref too long to show for this DEL>C	4	178147772	180601996	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.178147775_180601996del	VUS	1 lab	61c0316912
8:6559070 MISSING Ref too long to show for this DEL>T	8	6559070	6898191	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.6559071_6898191del	VUS	1 lab	61e12ae734
13:52227844 WDFY2 C>Alt too long to show for this DUP	13	52227844	52278656	C	Alt too long to show for this DUP	WDFY2	c.138-6885_334+870dup	NM_052950.4	NP_443182.1:p.?	NC_000013.10:g.52227847_52278656dup	VUS	1 lab	61c58c24b8
X:152959843 SLC6A8 C>T	X	152959843	152959843	C	T	SLC6A8	c.1407C>T	NM_001142805.2	NP_001136277.1:p.(Ser469=)	NC_000023.10:g.152959843C>T	(Likely) benign	1 lab	61c9a47f67
2:166201327 SCN2A A>T	2	166201327	166201327	A	T	SCN2A	c.2825A>T	NM_001040142.2	NP_001035232.1:p.(Glu942Val)	NC_000002.11:g.166201327A>T	(Likely) pathogenic	1 lab	61ca955b7c
8:74890985 TMEM70 C>T	8	74890985	74890985	C	T	TMEM70	c.211-6C>T	NM_001040613.3	NP_001035703.1:p.?	NC_000008.10:g.74890985C>T	(Likely) benign	1 lab	61cb2d7550
10:95361426 RBP4 C>T	10	95361426	95361426	C	T	RBP4	c.48G>A	NM_001323518.2	NP_001310447.1:p.(Thr16=)	NC_000010.10:g.95361426C>T	(Likely) benign	1 lab	61d04dcdf7
X:13725006 MISSING T>Alt too long to show for this DUP	X	13725006	13730954	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13725008_13730954dup	VUS	1 lab	61d1371126
2:179392051 TTN CA>C	2	179392051	179392059	CA	C	TTN	c.107681-18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179392059del	(Likely) benign	1 lab	61d1549057
X:135077050 SLC9A6 T>C	X	135077050	135077050	T	C	SLC9A6	c.431T>C	NM_001042537.2	NP_001036002.1:p.(Val144Ala)	NC_000023.10:g.135077050T>C	VUS	1 lab	61d6032901
1:13940864 PDPN C>G	1	13940864	13940864	C	G	PDPN	c.440C>G	NM_006474.5	NP_006465.4:p.(Ala147Gly)	NC_000001.10:g.13940864C>G	(Likely) benign	1 lab	61d77986c4
19:39076644 RYR1 T>C	19	39076644	39076644	T	C	RYR1	c.14868+2T>C	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39076644T>C	(Likely) pathogenic	1 lab	61da1c9dc8
7:128478249 FLNC C>T	7	128478249	128478249	C	T	FLNC	c.1048-72C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478249C>T	(Likely) benign	1 lab	61de1ac357
2:179448491 TTN C>T	2	179448491	179448491	C	T	TTN	c.65418G>A	NM_001267550.2	NP_001254479.2:p.(Arg21806=)	NC_000002.11:g.179448491C>T	(Likely) benign	1 lab	61e735b285
11:116707583 APOA1 A>G	11	116707583	116707583	A	G	APOA1	c.-128+134T>C	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707583A>G	(Likely) benign	1 lab	61e845ffe0
5:133956758 SAR1B T>C	5	133956758	133956758	T	C	SAR1B	c.59-16A>G	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133956758T>C	(Likely) benign	1 lab	61e86195b8
14:88448534 GALC T>C	14	88448534	88448534	T	C	GALC	c.621+15A>G	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88448534T>C	(Likely) benign	1 lab	61e9f48ed4
15:22707026 MISSING Ref too long to show for this DEL>T	15	22707026	23196640	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22707027_23196640del	(Likely) pathogenic	1 lab	61edb4ba90
17:39969549 FKBP10 C>T	17	39969549	39969549	C	T	FKBP10	c.245+18C>T	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39969549C>T	(Likely) benign	1 lab	61eef46327
12:49579748 TUBA1A C>T	12	49579748	49579748	C	T	TUBA1A	c.401G>A	NM_001270399.2	NP_001257328.1:p.(Gly134Asp)	NC_000012.11:g.49579748C>T	(Likely) pathogenic	1 lab	61f15346cc
X:102870808 MISSING T>Alt too long to show for this DUP	X	102870808	103236332	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.102870810_103236332dup	(Likely) pathogenic	1 lab	61f34846d1
19:46890221 MISSING Ref too long to show for this DEL>C	19	46890221	46940028	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.46890222_46940028del	VUS	1 lab	61f3ff6356
10:50833675 CHAT C>T	10	50833675	50833675	C	T	CHAT	c.663C>T	NM_001142933.2	NP_001136405.2:p.(His221=)	NC_000010.10:g.50833675C>T	(Likely) benign	1 lab	61f43c71d9
19:40374023 FCGBP C>T	19	40374023	40374023	C	T	FCGBP	c.12055G>A	NM_003890.2	NP_003881.2:p.(Val4019Met)	NC_000019.9:g.40374023C>T	(Likely) benign	1 lab	61f55609e4
10:90987182 LIPA G>GT	10	90987182	90987183	G	GT	LIPA	c.429-422dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90987183dup	(Likely) benign	1 lab	61f6425687
20:56227593 PMEPA1 C>G	20	56227593	56227593	C	G	PMEPA1	c.380G>C	NM_020182.5	NP_064567.2:p.(Arg127Pro)	NC_000020.10:g.56227593C>G	VUS	1 lab	61f9957eb9
1:226055624 TMEM63A C>T	1	226055624	226055624	C	T	TMEM63A	c.478G>A	NM_014698.3	NP_055513.2:p.(Val160Ile)	NC_000001.10:g.226055624C>T	(Likely) benign	1 lab	61fb8f50b2
16:29427213 MISSING Ref too long to show for this DEL>A	16	29427213	30330881	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29427215_30330881del	(Likely) pathogenic	1 lab	61fd13cb67
4:119689472 SEC24D G>C	4	119689472	119689472	G	C	SEC24D	c.1045-6C>G	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119689472G>C	(Likely) benign	1 lab	61fd2754b3
8:100155206 VPS13B C>A	8	100155206	100155206	C	A	VPS13B	c.1656C>A	NM_017890.5	NP_060360.3:p.(Ser552=)	NC_000008.10:g.100155206C>A	(Likely) benign	1 lab	61fd4ce39d
1:12052641 MFN2 G>T	1	12052641	12052641	G	T	MFN2	c.205G>T	NM_014874.4	NP_055689.1:p.(Val69Phe)	NC_000001.10:g.12052641G>T	(Likely) pathogenic	1 lab	61fecd677b
9:107600168 ABCA1 A>G	9	107600168	107600168	A	G	ABCA1	c.1055-320T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107600168A>G	(Likely) benign	1 lab	61ff522c43
10:68979441 CTNNA3 G>A	10	68979441	68979441	G	A	CTNNA3	c.767C>T	NM_013266.4	NP_037398.2:p.(Ser256Leu)	NC_000010.10:g.68979441G>A	VUS	1 lab	62021dca3c
10:27703017 PTCHD3 C>T	10	27703017	27703017	C	T	PTCHD3	c.163G>A	NM_001034842.4	NP_001030014.2:p.(Glu55Lys)	NC_000010.10:g.27703017C>T	(Likely) benign	1 lab	62039196eb
2:73676983 ALMS1 C>A	2	73676983	73676983	C	A	ALMS1	c.3332C>A	NM_015120.4	NP_055935.4:p.(Thr1111Asn)	NC_000002.11:g.73676983C>A	VUS	1 lab	6206450d1f
2:128526579 WDR33 T>TTAAATAAA	2	128526579	128526613	T	TTAAATAAA	WDR33	c.205-12_205-5dup	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128526606_128526613dup	(Likely) benign	1 lab	6206a4c0d1
7:91736684 AKAP9 C>T	7	91736684	91736684	C	T	AKAP9	c.11494C>T	NM_005751.5	NP_005742.4:p.(Arg3832Cys)	NC_000007.13:g.91736684C>T	VUS	1 lab	62074a4c71
2:44066189 ABCG8 C>T	2	44066189	44066189	C	T	ABCG8	c.-4C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066189C>T	VUS	1 lab	6207983d17
17:9124474 NTN1 C>A	17	9124474	9124474	C	A	NTN1	c.1412-11C>A	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124474C>A	(Likely) benign	1 lab	6208bbe291
17:45232079 CDC27 G>A	17	45232079	45232079	G	A	CDC27	c.916C>T	NM_001114091.4	NP_001107563.1:p.(Pro306Ser)	NC_000017.10:g.45232079G>A	(Likely) benign	1 lab	620b455b97
8:133899445 TG CAGACACCTGAA>C	8	133899445	133899458	CAGACACCTGAA	C	TG	c.1831_1841del	NM_003235.5	NP_003226.4:p.(Thr611AlafsTer13)	NC_000008.10:g.133899448_133899458del	(Likely) pathogenic	1 lab	6212709b3c
2:21265805 APOB T>C	2	21265805	21265805	T	C	APOB	c.122-457A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265805T>C	(Likely) benign	1 lab	6213e840dd
2:179511767 TTN G>GTATATATATATATA	2	179511767	179511789	G	GTATATATATATATA	TTN	c.40222+10_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511776_179511789dup	(Likely) benign	1 lab	6217f352c6
X:41205629 DDX3X G>A	X	41205629	41205629	G	A	DDX3X	c.1463G>A	NM_001356.5	NP_001347.3:p.(Arg488His)	NC_000023.10:g.41205629G>A	(Likely) pathogenic	1 lab	6218a11e76
2:44065080 ABCG5 G>GGCCTCACGCGGTGGCTTTAAA	2	44065080	44065102	G	GGCCTCACGCGGTGGCTTTAAA	ABCG5	c.144-7_157dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44065082_44065102dup	(Likely) pathogenic	1 lab	621998a417
1:63069806 ANGPTL3 T>C	1	63069806	63069806	T	C	ANGPTL3	c.1098T>C	NM_014495.4	NP_055310.1:p.(Thr366=)	NC_000001.10:g.63069806T>C	(Likely) benign	1 lab	621affc4f3
9:101867598 TGFBR1 C>CGGCG	9	101867598	101867610	C	CGGCG	TGFBR1	c.97+23_97+26dup	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101867607_101867610dup	(Likely) benign	1 lab	621c893c45
18:45396533 SMAD2 T>C	18	45396533	45396533	T	C	SMAD2	c.326+313A>G	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45396533T>C	VUS	1 lab	621ce229ab
2:21225272 APOB A>T	2	21225272	21225272	A	T	APOB	c.13022T>A	NM_000384.3	NP_000375.3:p.(Ile4341Asn)	NC_000002.11:g.21225272A>T	(Likely) benign	1 lab	621d9efc45
13:20797138 MISSING Ref too long to show for this DEL>T	13	20797138	21096035	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.20797140_21096035del	VUS	1 lab	621dcc3cf5
2:179427076 TTN GCAGT>G	2	179427076	179427080	GCAGT	G	TTN	c.83779_83782del	NM_001267550.2	NP_001254479.2:p.(Thr27927GlnfsTer9)	NC_000002.11:g.179427077_179427080del	(Likely) benign	1 lab	621e3e628a
13:32915303 BRCA2 A>T	13	32915303	32915303	A	T	BRCA2	c.6811A>T	NM_000059.4	NP_000050.3:p.(Lys2271Ter)	NC_000013.10:g.32915303A>T	(Likely) pathogenic	1 lab	62210cf34b
8:38874867 ADAM9 G>A	8	38874867	38874867	G	A	ADAM9	c.540G>A	NM_003816.3	NP_003807.1:p.(Lys180=)	NC_000008.10:g.38874867G>A	(Likely) benign	1 lab	6224cd01fa
3:9792781 OGG1 G>A	3	9792781	9792781	G	A	OGG1	c.290G>A	NM_016821.3	NP_058214.1:p.(Arg97His)	NC_000003.11:g.9792781G>A	(Likely) benign	1 lab	622994c060
14:88459835 GALC C>G	14	88459835	88459835	C	G	GALC	c.9G>C	NM_001201402.2	NP_001188331.1:p.(Gly3=)	NC_000014.8:g.88459835C>G	(Likely) benign	1 lab	622e3ce6b6
9:356078 DOCK8 Ref too long to show for this DEL>C	9	356078	387779	Ref too long to show for this DEL	C	DOCK8	c.1680-11938_2874+1353del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.356080_387779del	VUS	1 lab	622f1b3c47
11:68154078 LRP5 C>T	11	68154078	68154078	C	T	LRP5	c.1310C>T	NM_002335.4	NP_002326.2:p.(Thr437Met)	NC_000011.9:g.68154078C>T	(Likely) benign	1 lab	6232bf713c
14:23889224 MYH7 C>G	14	23889224	23889224	C	G	MYH7	c.3556G>C	NM_000257.4	NP_000248.2:p.(Glu1186Gln)	NC_000014.8:g.23889224C>G	VUS	1 lab	6237f604e2
16:66547639 TK2 C>G	16	66547639	66547639	C	G	TK2	c.547G>C	NM_001271934.2	NP_001258863.1:p.(Val183Leu)	NC_000016.9:g.66547639C>G	VUS	1 lab	623e1328cf
19:11224245 LDLR T>A	19	11224245	11224245	T	A	LDLR	c.1393T>A	NM_000527.5	NP_000518.1:p.(Tyr465Asn)	NC_000019.9:g.11224245T>A	VUS	1 lab	623e710913
2:21256242 APOB C>A	2	21256242	21256242	C	A	APOB	c.1053G>T	NM_000384.3	NP_000375.3:p.(Leu351=)	NC_000002.11:g.21256242C>A	(Likely) benign	1 lab	62422f98b0
11:47357805 MYBPC3 G>A	11	47357805	47357805	G	A	MYBPC3	c.2603-243C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357805G>A	(Likely) benign	1 lab	62ff54b419
14:34985762 EAPP Ref too long to show for this DEL>T	14	34985762	35002688	Ref too long to show for this DEL	T	EAPP	c.314_611del	NM_018453.4	NP_060923.2:p.(Ile105LysfsTer4)	NC_000014.8:g.34985763_35002688del	VUS	1 lab	62466dc6bd
16:29580017 MISSING Ref too long to show for this DEL>A	16	29580017	30240227	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29580020_30240227del	(Likely) pathogenic	1 lab	6248a49ece
11:116662134 APOA5 G>A	11	116662134	116662134	G	A	APOA5	c.161+168C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662134G>A	VUS	1 lab	6248f74b47
9:101570000 GALNT12 G>T	9	101570000	101570000	G	T	GALNT12	c.20G>T	NM_024642.5	NP_078918.3:p.(Arg7Leu)	NC_000009.11:g.101570000G>T	VUS	1 lab	624add962f
X:41204802 DDX3X G>C	X	41204802	41204802	G	C	DDX3X	c.1315+1G>C	NM_001193416.3	NP_001180345.1:p.?	NC_000023.10:g.41204802G>C	(Likely) pathogenic	1 lab	624cad7ab7
3:122646125 MISSING C>Alt too long to show for this DUP	3	122646125	122808799	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.122646126_122808799dup	VUS	1 lab	624e501e5d
2:179654809 TTN T>C	2	179654809	179654809	T	C	TTN	c.1834A>G	NM_001267550.2	NP_001254479.2:p.(Lys612Glu)	NC_000002.11:g.179654809T>C	VUS	1 lab	624f43e42d
6:7583735 DSP C>T	6	7583735	7583735	C	T	DSP	c.6240C>T	NM_004415.4	NP_004406.2:p.(Phe2080=)	NC_000006.11:g.7583735C>T	(Likely) benign	1 lab	6250aad2fa
1:12012452 PLOD1 G>A	1	12012452	12012452	G	A	PLOD1	c.467-228G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12012452G>A	(Likely) benign	1 lab	6250b7b16b
15:45404834 DUOX2 C>T	15	45404834	45404834	C	T	DUOX2	c.243G>A	NM_014080.5	NP_054799.4:p.(Pro81=)	NC_000015.9:g.45404834C>T	(Likely) benign	1 lab	625341cd62
12:53072370 KRT1 C>T	12	53072370	53072370	C	T	KRT1	c.762G>A	NM_006121.4	NP_006112.3:p.(Ser254=)	NC_000012.11:g.53072370C>T	(Likely) benign	1 lab	6254bd552c
10:97426139 TCTN3 Ref too long to show for this DEL>C	10	97426139	97447289	Ref too long to show for this DEL	C	TCTN3	c.627+63_1591-2083del	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97426143_97447289del	VUS	1 lab	6257b19246
20:32026627 SNTA1 C>A	20	32026627	32026627	C	A	SNTA1	c.496+20G>T	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32026627C>A	(Likely) benign	1 lab	6257cbcb83
16:88781461 CTU2 A>G	16	88781461	88781461	A	G	CTU2	c.1638A>G	NM_001318507.2	NP_001305436.1:p.(Ser546=)	NC_000016.9:g.88781461A>G	(Likely) benign	1 lab	625f803761
19:18583696 ELL T>TAAAAA	19	18583696	18583719	T	TAAAAA	ELL	c.136-9_136-5dup	NM_006532.4	NP_006523.1:p.?	NC_000019.9:g.18583715_18583719dup	(Likely) benign	1 lab	6262d829af
4:187113076 CYP4V2 G>A	4	187113076	187113076	G	A	CYP4V2	c.99G>A	NM_207352.4	NP_997235.3:p.(Leu33=)	NC_000004.11:g.187113076G>A	(Likely) benign	1 lab	6265bf8aca
22:42209326 CCDC134 G>A	22	42209326	42209326	G	A	CCDC134	c.369G>A	NM_024821.5	NP_079097.1:p.(Pro123=)	NC_000022.10:g.42209326G>A	(Likely) benign	1 lab	6267dd6554
10:95372685 PDE6C C>T	10	95372685	95372685	C	T	PDE6C	c.203C>T	NM_006204.4	NP_006195.3:p.(Thr68Ile)	NC_000010.10:g.95372685C>T	(Likely) benign	1 lab	6269624693
13:52548307 ATP7B G>A	13	52548307	52548307	G	A	ATP7B	c.1049C>T	NM_000053.4	NP_000044.2:p.(Pro350Leu)	NC_000013.10:g.52548307G>A	(Likely) benign	1 lab	62712983f9
12:48372559 COL2A1 G>A	12	48372559	48372559	G	A	COL2A1	c.2734-18C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48372559G>A	(Likely) benign	1 lab	6272034554
4:40318976 MISSING Ref too long to show for this DEL>G	4	40318976	40629328	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.40318979_40629328del	VUS	1 lab	62757d6b4d
14:36986884 NKX2-1 C>T	14	36986884	36986884	C	T	NKX2-1	c.715G>A	NM_003317.4	NP_003308.1:p.(Gly239Ser)	NC_000014.8:g.36986884C>T	VUS	1 lab	64bf28f57f
2:179610985 TTN C>T	2	179610985	179610985	C	T	TTN	c.16142G>A	NM_133379.5	NP_596870.2:p.(Arg5381His)	NC_000002.11:g.179610985C>T	(Likely) benign	1 lab	627a1091b4
18:34298224 FHOD3 G>C	18	34298224	34298224	G	C	FHOD3	c.2438G>C	NM_025135.5	NP_079411.2:p.(Arg813Thr)	NC_000018.9:g.34298224G>C	VUS	1 lab	627a49c5df
2:44051234 ABCG5 C>A	2	44051234	44051234	C	A	ABCG5	c.1142G>T	NM_022436.3	NP_071881.1:p.(Arg381Ile)	NC_000002.11:g.44051234C>A	VUS	1 lab	627fd953ff
17:48434517 XYLT2 G>C	17	48434517	48434517	G	C	XYLT2	c.1845G>C	NM_022167.4	NP_071450.2:p.(Gln615His)	NC_000017.10:g.48434517G>C	(Likely) benign	1 lab	628134fb8d
1:3313158 PRDM16 G>A	1	3313158	3313158	G	A	PRDM16	c.676+1G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3313158G>A	(Likely) pathogenic	1 lab	62842f9faa
17:7811230 CHD3 G>T	17	7811230	7811230	G	T	CHD3	c.5222G>T	NM_001005271.3	NP_001005271.2:p.(Arg1741Leu)	NC_000017.10:g.7811230G>T	VUS	1 lab	628e1d4663
15:23890639 MAGEL2 T>C	15	23890639	23890639	T	C	MAGEL2	c.2251A>G	NM_019066.5	NP_061939.3:p.(Ile751Val)	NC_000015.9:g.23890639T>C	(Likely) benign	1 lab	628e3c37dc
17:617869 VPS53 G>A	17	617869	617869	G	A	VPS53	c.81C>T	NM_001128159.3	NP_001121631.1:p.(Ile27=)	NC_000017.10:g.617869G>A	(Likely) benign	1 lab	6290016cad
16:77375679 ADAMTS18 A>C	16	77375679	77375679	A	C	ADAMTS18	c.1632T>G	NM_199355.4	NP_955387.1:p.(Leu544=)	NC_000016.9:g.77375679A>C	(Likely) benign	1 lab	629517352c
2:45163647 MISSING Ref too long to show for this DEL>G	2	45163647	45285296	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.45163649_45285296del	(Likely) pathogenic	1 lab	62979214fb
16:28878757 SH2B1 G>GGAAT	16	28878757	28878761	G	GGAAT	SH2B1	c.1041+5_1041+8dup	NM_015503.3	NP_056318.2:p.?	NC_000016.9:g.28878758_28878761dup	(Likely) benign	1 lab	6297f39ab1
19:11221391 LDLR G>T	19	11221391	11221391	G	T	LDLR	c.1004G>T	NM_000527.5	NP_000518.1:p.(Gly335Val)	NC_000019.9:g.11221391G>T	(Likely) pathogenic	1 lab	629b82a4ca
2:179606599 TTN G>A	2	179606599	179606599	G	A	TTN	c.11361C>T	NM_001267550.2	NP_001254479.2:p.(Ala3787=)	NC_000002.11:g.179606599G>A	(Likely) benign	1 lab	629bc7d257
1:236922762 ACTN2 T>C	1	236922762	236922762	T	C	ACTN2	c.2302-262T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922762T>C	(Likely) benign	1 lab	629c35fa6e
18:34339069 FHOD3 C>T	18	34339069	34339069	C	T	FHOD3	c.4426-12C>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34339069C>T	(Likely) benign	1 lab	62a06d770a
11:117222647 CEP164 G>GA	11	117222647	117222658	G	GA	CEP164	c.347dup	NM_014956.5	NP_055771.4:p.(Glu117GlyfsTer88)	NC_000011.9:g.117222658dup	(Likely) benign	1 lab	62a1138257
18:53302845 TCF4 C>T	18	53302845	53302845	C	T	TCF4	c.195+89G>A	NM_001243226.3	NP_001230155.2:p.?	NC_000018.9:g.53302845C>T	(Likely) benign	1 lab	62a2b2882d
20:62279542 MISSING T>Alt too long to show for this DUP	20	62279542	62306129	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.62279543_62306129dup	VUS	1 lab	62a457a2af
11:2869137 KCNQ1 C>T	11	2869137	2869137	C	T	KCNQ1	c.1935C>T	NM_000218.3	NP_000209.2:p.(Gly645=)	NC_000011.9:g.2869137C>T	(Likely) benign	1 lab	62a48a0b7f
15:45399152 DUOX2 T>A	15	45399152	45399152	T	A	DUOX2	c.1709A>T	NM_001363711.2	NP_001350640.1:p.(Gln570Leu)	NC_000015.9:g.45399152T>A	(Likely) pathogenic	1 lab	62a790399d
10:53280273 PRKG1 Ref too long to show for this DEL>T	10	53280273	53376304	Ref too long to show for this DEL	T	PRKG1	c.592+52678_592+148708del	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53280274_53376304del	VUS	1 lab	62aa65ef04
17:39925936 JUP G>T	17	39925936	39925936	G	T	JUP	c.209-7C>A	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39925936G>T	(Likely) benign	1 lab	62ab1eb3b9
4:110772986 LRIT3 C>T	4	110772986	110772986	C	T	LRIT3	c.443C>T	NM_198506.5	NP_940908.3:p.(Ala148Val)	NC_000004.11:g.110772986C>T	VUS	1 lab	62b2d68c9d
16:14788068 MISSING Ref too long to show for this DEL>A	16	14788068	15376388	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.14788069_15376388del	(Likely) pathogenic	1 lab	62b695ec9f
2:135308162 TMEM163 T>C	2	135308162	135308162	T	C	TMEM163	c.437A>G	NM_030923.5	NP_112185.1:p.(His146Arg)	NC_000002.11:g.135308162T>C	VUS	1 lab	62bffba27b
19:11222195 LDLR G>T	19	11222195	11222195	G	T	LDLR	c.1066G>T	NM_000527.5	NP_000518.1:p.(Asp356Tyr)	NC_000019.9:g.11222195G>T	(Likely) pathogenic	1 lab	62c0f0d6a7
12:21392023 SLCO1B1 C>G	12	21392023	21392023	C	G	SLCO1B1	c.1976C>G	NM_006446.5	NP_006437.3:p.(Ser659Ter)	NC_000012.11:g.21392023C>G	(Likely) benign	1 lab	62c637912e
4:70965926 MISSING Ref too long to show for this DEL>A	4	70965926	71069177	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.70965927_71069177del	VUS	1 lab	62c66e1175
4:100530143 MTTP C>T	4	100530143	100530143	C	T	MTTP	c.1769+9C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530143C>T	(Likely) benign	1 lab	62c8244627
X:49061798 CACNA1F A>G	X	49061798	49061798	A	G	CACNA1F	c.5733T>C	NM_005183.4	NP_005174.2:p.(Phe1911=)	NC_000023.10:g.49061798A>G	(Likely) benign	1 lab	62c87033f7
11:47370459 MYBPC3 TTA>T	11	47370459	47370478	TTA	T	MYBPC3	c.655-369_655-368del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370477_47370478del	(Likely) benign	1 lab	62ca62df1a
1:180793944 XPR1 G>T	1	180793944	180793944	G	T	XPR1	c.819G>T	NM_004736.4	NP_004727.2:p.(Arg273=)	NC_000001.10:g.180793944G>T	(Likely) benign	1 lab	62cd0b7b71
15:48741070 FBN1 T>C	15	48741070	48741070	T	C	FBN1	c.5566A>G	NM_000138.5	NP_000129.3:p.(Ile1856Val)	NC_000015.9:g.48741070T>C	VUS	1 lab	62cd7ce8b5
5:821993 ZDHHC11 C>T	5	821993	821993	C	T	ZDHHC11	c.1041G>A	NM_024786.2	NP_079062.1:p.(Pro347=)	NC_000005.9:g.821993C>T	(Likely) benign	1 lab	62d0031556
2:220285383 DES G>T	2	220285383	220285383	G	T	DES	c.897+5G>T	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285383G>T	(Likely) benign	1 lab	62d8e1dadf
4:36340716 DTHD1 G>A	4	36340716	36340716	G	A	DTHD1	c.2341-18G>A	NM_001170700.3	NP_001164171.2:p.?	NC_000004.11:g.36340716G>A	(Likely) benign	1 lab	62da32952c
11:47373386 MYBPC3 A>G	11	47373386	47373386	A	G	MYBPC3	c.26-330T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373386A>G	(Likely) benign	1 lab	62da51229e
X:103129482 MISSING Ref too long to show for this DEL>T	X	103129482	103263269	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.103129484_103263269del	VUS	1 lab	62da97e327
17:7918282 GUCY2D C>T	17	7918282	7918282	C	T	GUCY2D	c.2682C>T	NM_000180.4	NP_000171.1:p.(Ala894=)	NC_000017.10:g.7918282C>T	(Likely) benign	1 lab	62db86ad7b
16:57921800 CNGB1 C>T	16	57921800	57921800	C	T	CNGB1	c.3421G>A	NM_001297.5	NP_001288.3:p.(Ala1141Thr)	NC_000016.9:g.57921800C>T	(Likely) benign	1 lab	62dc1f14f8
2:21255573 APOB C>CCATCT	2	21255573	21255574	C	CCATCT	APOB	c.1125-121_1125-120insAGATG	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255573_21255574insCATCT	(Likely) benign	1 lab	62dd030a5d
5:127625763 FBN2 C>T	5	127625763	127625763	C	T	FBN2	c.6446-124G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625763C>T	(Likely) benign	1 lab	62dd1d74ff
2:170029747 LRP2 G>T	2	170029747	170029747	G	T	LRP2	c.11015-13C>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170029747G>T	(Likely) benign	1 lab	62dd4c7849
3:38592001 SCN5A C>T	3	38592001	38592001	C	T	SCN5A	c.5862G>A	NM_001099404.2	NP_001092874.1:p.(Glu1954=)	NC_000003.11:g.38592001C>T	(Likely) benign	1 lab	62dd551052
5:148386607 SH3TC2 C>A	5	148386607	148386607	C	A	SH3TC2	c.3512G>T	NM_024577.4	NP_078853.2:p.(Arg1171Leu)	NC_000005.9:g.148386607C>A	VUS	1 lab	62deb2098d
17:75489015 SEPTIN9 T>C	17	75489015	75489015	T	C	SEPTIN9	c.1423-47T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489015T>C	(Likely) benign	1 lab	62df2caa8c
10:88441523 LDB3 C>T	10	88441523	88441523	C	T	LDB3	c.652C>T	NM_001171610.2	NP_001165081.1:p.(Leu218Phe)	NC_000010.10:g.88441523C>T	(Likely) benign	1 lab	62e2e66e80
4:187130365 CYP4V2 T>C	4	187130365	187130365	T	C	CYP4V2	c.1344T>C	NM_207352.4	NP_997235.3:p.(Asn448=)	NC_000004.11:g.187130365T>C	(Likely) benign	1 lab	62e3ea559b
5:13788829 DNAH5 A>G	5	13788829	13788829	A	G	DNAH5	c.8643T>C	NM_001369.3	NP_001360.1:p.(Ala2881=)	NC_000005.9:g.13788829A>G	(Likely) benign	1 lab	62e6005928
15:100799680 ADAMTS17 G>C	15	100799680	100799680	G	C	ADAMTS17	c.1031+2004C>G	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100799680G>C	(Likely) benign	1 lab	62e6e99b04
12:125296964 SCARB1 C>T	12	125296964	125296964	C	T	SCARB1	c.631-453G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125296964C>T	(Likely) benign	1 lab	62e78db0e7
19:56358060 NLRP4 Ref too long to show for this DEL>A	19	56358060	56393350	Ref too long to show for this DEL	A	NLRP4				NC_000019.9:g.56358061_56393350del	VUS	1 lab	62eae02051
8:144295702 GPIHBP1 G>A	8	144295702	144295702	G	A	GPIHBP1	c.58G>A	NM_178172.6	NP_835466.2:p.(Gly20Arg)	NC_000008.10:g.144295702G>A	VUS	1 lab	62ec765f46
19:7620270 PNPLA6 C>T	19	7620270	7620270	C	T	PNPLA6	c.2966+17C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7620270C>T	(Likely) benign	1 lab	62ecf0ca7c
5:127599185 FBN2 G>A	5	127599185	127599185	G	A	FBN2	c.8124C>T	NM_001999.4	NP_001990.2:p.(Tyr2708=)	NC_000005.9:g.127599185G>A	(Likely) benign	1 lab	62edc1739b
1:55529137 PCSK9 G>A	1	55529137	55529137	G	A	PCSK9	c.1959G>A	NM_174936.4	NP_777596.2:p.(Thr653=)	NC_000001.10:g.55529137G>A	(Likely) benign	1 lab	62f016774b
2:21235086 APOB T>A	2	21235086	21235086	T	A	APOB	c.4654A>T	NM_000384.3	NP_000375.3:p.(Ser1552Cys)	NC_000002.11:g.21235086T>A	VUS	1 lab	62f035d666
16:28819027 MISSING Ref too long to show for this DEL>A	16	28819027	29070000	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.28819028_29070000del	(Likely) pathogenic	1 lab	62f517d36e
2:179604933 TTN C>T	2	179604933	179604933	C	T	TTN	c.13027G>A	NM_001267550.2	NP_001254479.2:p.(Glu4343Lys)	NC_000002.11:g.179604933C>T	VUS	1 lab	62f73b7021
15:50959024 MISSING G>Alt too long to show for this DUP	15	50959024	51048639	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.50959026_51048639dup	VUS	1 lab	62f79baae1
10:88478482 LDB3 A>G	10	88478482	88478482	A	G	LDB3	c.1873-2A>G	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88478482A>G	(Likely) pathogenic	1 lab	62f94a0243
7:107748103 LAMB4 C>T	7	107748103	107748103	C	T	LAMB4	c.564G>A	NM_007356.3	NP_031382.2:p.(Ser188=)	NC_000007.13:g.107748103C>T	(Likely) benign	1 lab	62fa2cda49
5:127680167 FBN2 T>G	5	127680167	127680167	T	G	FBN2	c.3253A>C	NM_001999.4	NP_001990.2:p.(Thr1085Pro)	NC_000005.9:g.127680167T>G	VUS	1 lab	62fb699dc4
10:12142273 DHTKD1 C>CT	10	12142273	12142283	C	CT	DHTKD1	c.1756+22dup	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142283dup	(Likely) benign	1 lab	62fe1e55a5
13:48830469 ITM2B C>T	13	48830469	48830469	C	T	ITM2B	c.403C>T	NM_021999.5	NP_068839.1:p.(Pro135Ser)	NC_000013.10:g.48830469C>T	VUS	1 lab	62ff325c81
4:88755966 MEPE Ref too long to show for this DEL>T	4	88755966	88764773	Ref too long to show for this DEL	T	MEPE	c.54+47_109-1356del	NM_020203.6	NP_064588.1:p.?	NC_000004.11:g.88755967_88764773del	VUS	1 lab	6301df0c29
10:75802822 VCL A>AT	10	75802822	75802830	A	AT	VCL	c.169-11dup	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75802830dup	(Likely) benign	1 lab	6302e33755
4:164290791 MISSING C>Alt too long to show for this DUP	4	164290791	164459885	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.164290793_164459885dup	VUS	1 lab	63030e2a4b
4:46258285 GABRA2 G>A	4	46258285	46258285	G	A	GABRA2	c.1001C>T	NM_001286827.3	NP_001273756.1:p.(Pro334Leu)	NC_000004.11:g.46258285G>A	(Likely) benign	1 lab	63177e2b2a
11:46726311 ZNF408 G>A	11	46726311	46726311	G	A	ZNF408	c.1061G>A	NM_024741.3	NP_079017.1:p.(Arg354Gln)	NC_000011.9:g.46726311G>A	VUS	1 lab	63060b632f
8:19811767 LPL A>G	8	19811767	19811767	A	G	LPL	c.678A>G	NM_000237.3	NP_000228.1:p.(Pro226=)	NC_000008.10:g.19811767A>G	(Likely) benign	1 lab	63120e15fa
2:112758791 MERTK G>A	2	112758791	112758791	G	A	MERTK	c.1618G>A	NM_006343.3	NP_006334.2:p.(Glu540Lys)	NC_000002.11:g.112758791G>A	(Likely) benign	1 lab	6312c6de36
16:88504477 ZNF469 C>T	16	88504477	88504477	C	T	ZNF469	c.10599C>T	NM_001367624.2	NP_001354553.1:p.(Pro3533=)	NC_000016.9:g.88504477C>T	(Likely) benign	1 lab	631325cf79
2:179422369 TTN-AS1 ACTTAC>A	2	179422369	179422374	ACTTAC	A	TTN-AS1	n.2043+15282_2043+15286del	NR_038272.1		NC_000002.11:g.179422370_179422374del	(Likely) benign	1 lab	6315abc451
4:184596309 TRAPPC11 CT>C	4	184596309	184596314	CT	C	TRAPPC11	c.661-3del	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184596314del	(Likely) benign	1 lab	63164964ef
7:138555927 KIAA1549 C>T	7	138555927	138555927	C	T	KIAA1549	c.4527G>A	NM_020910.3	NP_065961.2:p.(Ala1509=)	NC_000007.13:g.138555927C>T	(Likely) benign	1 lab	6316b9fb42
15:28263672 OCA2 C>T	15	28263672	28263672	C	T	OCA2	c.678G>A	NM_000275.3	NP_000266.2:p.(Thr226=)	NC_000015.9:g.28263672C>T	(Likely) benign	1 lab	63172af52a
6:56473568 DST G>A	6	56473568	56473568	G	A	DST	c.5858C>T	NM_001374736.1	NP_001361665.1:p.(Pro1953Leu)	NC_000006.11:g.56473568G>A	VUS	1 lab	63184afd8e
16:929671 LMF1 C>T	16	929671	929671	C	T	LMF1	c.796G>A	NM_022773.4	NP_073610.2:p.(Glu266Lys)	NC_000016.9:g.929671C>T	VUS	1 lab	63210996ba
2:219677420 CYP27A1 G>A	2	219677420	219677420	G	A	CYP27A1	c.792G>A	NM_000784.4	NP_000775.1:p.(Val264=)	NC_000002.11:g.219677420G>A	(Likely) benign	1 lab	6325e37d48
2:179436355 TTN T>C	2	179436355	179436355	T	C	TTN	c.74504A>G	NM_001267550.2	NP_001254479.2:p.(Tyr24835Cys)	NC_000002.11:g.179436355T>C	VUS	1 lab	6329608ed5
15:65945055 SLC24A1 CTCA>C	15	65945055	65945061	CTCA	C	SLC24A1	c.2963_2965del	NM_004727.3	NP_004718.1:p.(Ile988del)	NC_000015.9:g.65945059_65945061del	VUS	1 lab	632bfbab1f
7:150646069 KCNH2 G>A	7	150646069	150646069	G	A	KCNH2	c.2467C>T	NM_000238.4	NP_000229.1:p.(Arg823Trp)	NC_000007.13:g.150646069G>A	(Likely) pathogenic	1 lab	632d99c8a3
X:153058878 MISSING Ref too long to show for this DEL>G	X	153058878	153068482	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.153058879_153068482del	(Likely) pathogenic	1 lab	632f7452f0
4:75678166 BTC Ref too long to show for this DEL>A	4	75678166	75688708	Ref too long to show for this DEL	A	BTC	c.163+6560_282-2238del	NM_001729.4	NP_001720.1:p.?	NC_000004.11:g.75678167_75688708del	VUS	1 lab	63371c99ac
18:21121259 NPC1 C>T	18	21121259	21121259	C	T	NPC1	c.2373+11G>A	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21121259C>T	(Likely) benign	1 lab	6337604106
5:7889216 MTRR G>A	5	7889216	7889216	G	A	MTRR	c.1155G>A	NM_002454.3	NP_002445.2:p.(Leu385=)	NC_000005.9:g.7889216G>A	(Likely) benign	1 lab	633b98101d
2:179605923 TTN C>T	2	179605923	179605923	C	T	TTN	c.12037G>A	NM_001267550.2	NP_001254479.2:p.(Ala4013Thr)	NC_000002.11:g.179605923C>T	VUS	1 lab	633c386650
2:179436020 TTN-AS1 G>A	2	179436020	179436020	G	A	TTN-AS1	n.2044-11279G>A	NR_038272.1		NC_000002.11:g.179436020G>A	(Likely) benign	1 lab	633d32eccc
17:75303102 SEPTIN9 G>A	17	75303102	75303102	G	A	SEPTIN9	c.-473-121G>A	NM_001113492.2	NP_001106964.1:p.?	NC_000017.10:g.75303102G>A	(Likely) benign	1 lab	633d5474be
2:179428451 TTN G>T	2	179428451	179428451	G	T	TTN	c.82408C>A	NM_001267550.2	NP_001254479.2:p.(Pro27470Thr)	NC_000002.11:g.179428451G>T	VUS	1 lab	633d838718
12:50498475 GPD1 A>G	12	50498475	50498475	A	G	GPD1	c.160A>G	NM_005276.4	NP_005267.2:p.(Ile54Val)	NC_000012.11:g.50498475A>G	(Likely) benign	1 lab	633db9ec61
12:941914 MISSING A>Alt too long to show for this DUP	12	941914	1270172	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.941915_1270172dup	VUS	1 lab	633ef795f7
9:107583670 ABCA1 G>A	9	107583670	107583670	G	A	ABCA1	c.2946C>T	NM_005502.4	NP_005493.2:p.(Asn982=)	NC_000009.11:g.107583670G>A	(Likely) benign	1 lab	633fe4465d
10:104159139 NFKB2 G>T	10	104159139	104159139	G	T	NFKB2	c.1212G>T	NM_001288724.1	NP_001275653.1:p.(Gly404=)	NC_000010.10:g.104159139G>T	(Likely) benign	1 lab	6341394be6
17:40913366 RAMP2 C>T	17	40913366	40913366	C	T	RAMP2	c.87C>T	NM_005854.3	NP_005845.2:p.(Leu29=)	NC_000017.10:g.40913366C>T	(Likely) benign	1 lab	634386bbbf
16:11647402 LITAF G>C	16	11647402	11647402	G	C	LITAF	c.364C>G	NM_004862.4	NP_004853.2:p.(Leu122Val)	NC_000016.9:g.11647402G>C	(Likely) pathogenic	1 lab	63457b33d0
17:17131374 FLCN G>A	17	17131374	17131374	G	A	FLCN	c.78C>T	NM_144997.7	NP_659434.2:p.(His26=)	NC_000017.10:g.17131374G>A	(Likely) benign	1 lab	6345f71208
9:98221919 PTCH1 G>A	9	98221919	98221919	G	A	PTCH1	c.2850C>T	NM_000264.5	NP_000255.2:p.(His950=)	NC_000009.11:g.98221919G>A	(Likely) benign	1 lab	634a2db2e5
16:67976888 LCAT C>G	16	67976888	67976888	C	G	LCAT	c.312-9G>C	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976888C>G	(Likely) benign	1 lab	634b8d01b4
15:90191500 KIF7 C>T	15	90191500	90191500	C	T	KIF7	c.1429G>A	NM_198525.3	NP_940927.2:p.(Ala477Thr)	NC_000015.9:g.90191500C>T	(Likely) benign	1 lab	634ee569c2
6:30954977 MUC21 C>T	6	30954977	30954977	C	T	MUC21	c.1025C>T	NM_001010909.5	NP_001010909.2:p.(Ala342Val)	NC_000006.11:g.30954977C>T	(Likely) benign	1 lab	635032b9f7
2:221651554 MISSING Ref too long to show for this DEL>C	2	221651554	223048872	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.221651556_223048872del	VUS	1 lab	6355930c56
2:25044399 ADCY3 G>A	2	25044399	25044399	G	A	ADCY3	c.3114C>T	NM_004036.5	NP_004027.2:p.(Phe1038=)	NC_000002.11:g.25044399G>A	(Likely) benign	1 lab	635794dcdf
14:52421093 MISSING Ref too long to show for this DEL>A	14	52421093	52460479	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.52421094_52460479del	VUS	1 lab	635b23f223
7:151265840 PRKAG2 G>A	7	151265840	151265840	G	A	PRKAG2	c.1195C>T	NM_016203.4	NP_057287.2:p.(Leu399Phe)	NC_000007.13:g.151265840G>A	VUS	1 lab	635b3f901d
5:133957165 SAR1B AAAATAAAT>A	5	133957165	133957205	AAAATAAAT	A	SAR1B	c.59-431_59-424del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133957198_133957205del	(Likely) benign	1 lab	635d1735ab
9:100616910 FOXE1 C>T	9	100616910	100616910	C	T	FOXE1	c.714C>T	NM_004473.4	NP_004464.2:p.(Pro238=)	NC_000009.11:g.100616910C>T	(Likely) benign	1 lab	6360c0146d
16:67976626 LCAT G>A	16	67976626	67976626	G	A	LCAT	c.471C>T	NM_000229.2	NP_000220.1:p.(Tyr157=)	NC_000016.9:g.67976626G>A	(Likely) benign	1 lab	63616358cb
19:45412340 APOE G>A	19	45412340	45412340	G	A	APOE	c.865G>A	NM_001302688.2	NP_001289617.1:p.(Glu289Lys)	NC_000019.9:g.45412340G>A	VUS	1 lab	6361cc25a0
1:27874669 AHDC1 C>CA	1	27874669	27874670	C	CA	AHDC1	c.3957_3958insT	NM_001371928.1	NP_001358857.1:p.(Asp1320Ter)	NC_000001.10:g.27874669_27874670insA	(Likely) pathogenic	1 lab	6366ef79f8
17:39920786 JUP G>GGA	17	39920786	39920787	G	GGA	JUP	c.1158+178_1158+179insTC	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39920786_39920787insGA	(Likely) benign	1 lab	6369ccb8c9
17:41063178 G6PC1 G>T	17	41063178	41063178	G	T	G6PC1	c.809G>T	NM_000151.4	NP_000142.2:p.(Gly270Val)	NC_000017.10:g.41063178G>T	(Likely) pathogenic	1 lab	636ac5facd
11:10787849 CTR9 C>T	11	10787849	10787849	C	T	CTR9	c.1598-100C>T	NM_014633.5	NP_055448.1:p.?	NC_000011.9:g.10787849C>T	(Likely) benign	1 lab	636c4b1f16
11:2799236 KCNQ1 TC>T	11	2799236	2799237	TC	T	KCNQ1	c.1764del	NM_000218.3	NP_000209.2:p.(Ile588MetfsTer5)	NC_000011.9:g.2799237del	(Likely) pathogenic	1 lab	636f131a5d
15:85400446 ALPK3 C>T	15	85400446	85400446	C	T	ALPK3	c.2477C>T	NM_020778.5	NP_065829.4:p.(Pro826Leu)	NC_000015.9:g.85400446C>T	VUS	1 lab	63719adac0
19:50781364 MYH14 C>T	19	50781364	50781364	C	T	MYH14	c.3850C>T	NM_001145809.2	NP_001139281.1:p.(Arg1284Trp)	NC_000019.9:g.50781364C>T	VUS	1 lab	6375cd604f
9:137710725 COL5A1 C>T	9	137710725	137710725	C	T	COL5A1	c.4370C>T	NM_000093.5	NP_000084.3:p.(Pro1457Leu)	NC_000009.11:g.137710725C>T	(Likely) benign	1 lab	63760423d7
20:5092141 TMEM230 C>G	20	5092141	5092141	C	G	TMEM230	c.-16+5G>C	NM_001009924.2	NP_001009924.1:p.?	NC_000020.10:g.5092141C>G	(Likely) benign	1 lab	637920f71b
7:92148343 PEX1 A>G	7	92148343	92148343	A	G	PEX1	c.323T>C	NM_000466.3	NP_000457.1:p.(Val108Ala)	NC_000007.13:g.92148343A>G	VUS	1 lab	637c39d4d7
10:8111533 GATA3 C>T	10	8111533	8111533	C	T	GATA3	c.1022C>T	NM_001002295.2	NP_001002295.1:p.(Ala341Val)	NC_000010.10:g.8111533C>T	(Likely) pathogenic	1 lab	638200b1ad
11:64514749 PYGM G>T	11	64514749	64514749	G	T	PYGM	c.2259C>A	NM_005609.4	NP_005600.1:p.(Pro753=)	NC_000011.9:g.64514749G>T	(Likely) benign	1 lab	6383164e3a
12:40671770 LRRK2 A>C	12	40671770	40671770	A	C	LRRK2	c.2022A>C	NM_198578.4	NP_940980.4:p.(Val674=)	NC_000012.11:g.40671770A>C	(Likely) benign	1 lab	6386607142
X:41203119 DDX3X G>A	X	41203119	41203119	G	A	DDX3X	c.765+44G>A	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41203119G>A	(Likely) benign	1 lab	638835db61
2:73679731 ALMS1 A>G	2	73679731	73679731	A	G	ALMS1	c.6080A>G	NM_015120.4	NP_055935.4:p.(Lys2027Arg)	NC_000002.11:g.73679731A>G	VUS	1 lab	638b83ccbb
5:148407326 SH3TC2 C>T	5	148407326	148407326	C	T	SH3TC2	c.1969G>A	NM_024577.4	NP_078853.2:p.(Glu657Lys)	NC_000005.9:g.148407326C>T	(Likely) pathogenic	1 lab	638c0b9c93
7:128490424 FLNC C>G	7	128490424	128490424	C	G	FLNC	c.5299-14C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490424C>G	(Likely) benign	1 lab	638ea08b0f
11:1778772 CTSD T>C	11	1778772	1778772	T	C	CTSD	c.486A>G	NM_001909.5	NP_001900.1:p.(Ser162=)	NC_000011.9:g.1778772T>C	(Likely) benign	1 lab	638ee7bbbe
2:44055609 ABCG5 TACAAAAA>T	2	44055609	44055617	TACAAAAA	T	ABCG5	c.502-362_502-356del	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055611_44055617del	(Likely) benign	1 lab	63937d3111
12:1920888 CACNA2D4 G>A	12	1920888	1920888	G	A	CACNA2D4	c.2553C>T	NM_172364.5	NP_758952.4:p.(Ala851=)	NC_000012.11:g.1920888G>A	(Likely) benign	1 lab	63a1c0582d
1:231978640 DISC1 A>Alt too long to show for this DUP	1	231978640	231991679	A	Alt too long to show for this DUP	DISC1	c.1981+24378_1981+37416dup	NM_018662.3	NP_061132.2:p.?	NC_000001.10:g.231978641_231991679dup	VUS	1 lab	6396079e53
5:82786239 VCAN C>T	5	82786239	82786239	C	T	VCAN	c.393C>T	NM_004385.5	NP_004376.2:p.(Asp131=)	NC_000005.9:g.82786239C>T	(Likely) benign	1 lab	6397040036
21:41385021 DSCAM G>A	21	41385021	41385021	G	A	DSCAM	c.5979C>T	NM_001389.5	NP_001380.2:p.(Leu1993=)	NC_000021.8:g.41385021G>A	(Likely) benign	1 lab	639874a7cb
9:139411451 NOTCH1 C>G	9	139411451	139411451	C	G	NOTCH1	c.1555+273G>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139411451C>G	(Likely) benign	1 lab	63991f7b26
17:57756783 CLTC A>C	17	57756783	57756783	A	C	CLTC	c.2834A>C	NM_001288653.2	NP_001275582.1:p.(Lys945Thr)	NC_000017.10:g.57756783A>C	VUS	1 lab	63995664ab
10:104679558 CNNM2 C>T	10	104679558	104679558	C	T	CNNM2	c.1321C>T	NM_017649.5	NP_060119.3:p.(Leu441Phe)	NC_000010.10:g.104679558C>T	VUS	1 lab	639978f1b4
5:133948407 SAR1B G>A	5	133948407	133948407	G	A	SAR1B	c.218C>T	NM_001033503.3	NP_001028675.1:p.(Thr73Ile)	NC_000005.9:g.133948407G>A	(Likely) pathogenic	1 lab	639a13bea8
2:29416750 ALK A>G	2	29416750	29416750	A	G	ALK	c.4203T>C	NM_004304.5	NP_004295.2:p.(Tyr1401=)	NC_000002.11:g.29416750A>G	(Likely) benign	1 lab	639ea198e0
2:179664292 TTN C>T	2	179664292	179664292	C	T	TTN	c.836G>A	NM_133378.4	NP_596869.4:p.(Arg279Gln)	NC_000002.11:g.179664292C>T	VUS	1 lab	639ee3d4db
16:1005095 LMF1 G>A	16	1005095	1005095	G	A	LMF1	c.-361-429C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005095G>A	(Likely) benign	1 lab	639f1f0999
9:107568537 ABCA1 C>T	9	107568537	107568537	C	T	ABCA1	c.4449G>A	NM_005502.4	NP_005493.2:p.(Gly1483=)	NC_000009.11:g.107568537C>T	(Likely) benign	1 lab	63a1fe48a7
2:96951010 SNRNP200 T>C	2	96951010	96951010	T	C	SNRNP200	c.4072A>G	NM_014014.5	NP_054733.2:p.(Ile1358Val)	NC_000002.11:g.96951010T>C	VUS	1 lab	63a2bf3ff7
6:42146619 GUCA1ANB-GUCA1A A>C	6	42146619	42146619	A	C	GUCA1ANB-GUCA1A	c.431A>C	NM_001319061.2	NP_001305990.1:p.(Asp144Ala)	NC_000006.11:g.42146619A>C	VUS	1 lab	63a58362d1
7:91631057 AKAP9 C>A	7	91631057	91631057	C	A	AKAP9	c.1826C>A	NM_005751.5	NP_005742.4:p.(Ala609Asp)	NC_000007.13:g.91631057C>A	VUS	1 lab	63a65e1779
22:31333027 MORC2 G>A	22	31333027	31333027	G	A	MORC2	c.1313-3C>T	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31333027G>A	(Likely) benign	1 lab	63b1b360c5
2:179470194 TTN A>G	2	179470194	179470194	A	G	TTN	c.53828T>C	NM_001267550.2	NP_001254479.2:p.(Ile17943Thr)	NC_000002.11:g.179470194A>G	VUS	1 lab	63b1d70249
12:110574677 IFT81 T>C	12	110574677	110574677	T	C	IFT81	c.781+12T>C	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110574677T>C	(Likely) benign	1 lab	63b7c65419
2:50960718 NRXN1 Ref too long to show for this DEL>G	2	50960718	51253186	Ref too long to show for this DEL	G	NRXN1	c.772+1454_833-109966del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50960719_51253186del	(Likely) pathogenic	1 lab	63b91ff5c4
1:12034712 PLOD1 C>T	1	12034712	12034712	C	T	PLOD1	c.2031C>T	NM_000302.4	NP_000293.2:p.(Gly677=)	NC_000001.10:g.12034712C>T	(Likely) benign	1 lab	63ba0a1a20
2:179611201 TTN T>C	2	179611201	179611201	T	C	TTN	c.15926A>G	NM_133379.5	NP_596870.2:p.(Glu5309Gly)	NC_000002.11:g.179611201T>C	VUS	1 lab	63bdc10abb
16:919873 LMF1 C>G	16	919873	919873	C	G	LMF1	c.1017+10G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919873C>G	(Likely) benign	1 lab	63c31743f3
20:34092235 CEP250 G>A	20	34092235	34092235	G	A	CEP250	c.6038G>A	NM_007186.6	NP_009117.2:p.(Arg2013Gln)	NC_000020.10:g.34092235G>A	VUS	1 lab	63c435e78e
2:44052129 ABCG5 A>T	2	44052129	44052129	A	T	ABCG5	c.803T>A	NM_022436.3	NP_071881.1:p.(Phe268Tyr)	NC_000002.11:g.44052129A>T	(Likely) benign	1 lab	63c6360017
11:102996010 DYNC2H1 ATTATTC>A	11	102996010	102996019	ATTATTC	A	DYNC2H1	c.1847_1852del	NM_001080463.2	NP_001073932.1:p.(Ile616_Leu617del)	NC_000011.9:g.102996014_102996019del	(Likely) pathogenic	1 lab	63c7156888
6:123588913 TRDN A>G	6	123588913	123588913	A	G	TRDN	c.1739-17T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123588913A>G	(Likely) benign	1 lab	63ca7d177b
13:19436285 MISSING C>Alt too long to show for this DUP	13	19436285	19944139	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.19436287_19944139dup	VUS	1 lab	63cc514ecd
8:42977532 POMK A>G	8	42977532	42977532	A	G	POMK	c.565A>G	NM_032237.5	NP_115613.1:p.(Ile189Val)	NC_000008.10:g.42977532A>G	(Likely) benign	1 lab	63ccd24792
4:186256849 MISSING G>Alt too long to show for this DUP	4	186256849	186391335	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.186256850_186391335dup	VUS	1 lab	63d157381c
X:48383220 MISSING Ref too long to show for this DEL>T	X	48383220	48399962	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.48383223_48399962del	(Likely) pathogenic	1 lab	63d38e8c04
10:90986670 LIPA A>G	10	90986670	90986670	A	G	LIPA	c.520T>C	NM_000235.4	NP_000226.2:p.(Ser174Pro)	NC_000010.10:g.90986670A>G	(Likely) pathogenic	1 lab	63db348c1d
X:153608682 EMD CCAGT>C	X	153608682	153608690	CCAGT	C	EMD	c.359_362del	NM_000117.3	NP_000108.1:p.(Ser120Ter)	NC_000023.10:g.153608687_153608690del	(Likely) benign	1 lab	63dbde30f7
1:47882588 FOXE3 G>A	1	47882588	47882588	G	A	FOXE3	c.601G>A	NM_012186.3	NP_036318.1:p.(Val201Met)	NC_000001.10:g.47882588G>A	(Likely) benign	1 lab	63ddaff127
7:94055130 COL1A2 C>T	7	94055130	94055130	C	T	COL1A2	c.2904C>T	NM_000089.4	NP_000080.2:p.(Pro968=)	NC_000007.13:g.94055130C>T	(Likely) benign	1 lab	63ddcd52e2
1:227789126 MISSING G>Alt too long to show for this DUP	1	227789126	227937793	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.227789128_227937793dup	VUS	1 lab	63de50e651
2:179640983 TTN G>T	2	179640983	179640983	G	T	TTN	c.5608C>A	NM_001267550.2	NP_001254479.2:p.(Pro1870Thr)	NC_000002.11:g.179640983G>T	VUS	1 lab	63e00d65d0
1:19570426 EMC1 C>A	1	19570426	19570426	C	A	EMC1	c.286+18G>T	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19570426C>A	(Likely) benign	1 lab	63e11364dd
2:202626333 ALS2 C>G	2	202626333	202626333	C	G	ALS2	c.384G>C	NM_020919.4	NP_065970.2:p.(Gln128His)	NC_000002.11:g.202626333C>G	(Likely) benign	1 lab	63e23e049b
4:15529057 CC2D2A C>G	4	15529057	15529057	C	G	CC2D2A	c.1150-13C>G	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15529057C>G	(Likely) benign	1 lab	63e33be66d
15:72767235 ARIH1 C>CGGT	15	72767235	72767246	C	CGGT	ARIH1	c.264_266dup	NM_005744.5	NP_005735.2:p.(Gly90dup)	NC_000015.9:g.72767244_72767246dup	(Likely) benign	1 lab	63e3ad196f
17:10552930 MYH3 A>ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGGGG	17	10552930	10552931	A	ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGGGG	MYH3	c.605_606insCCCCATCCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA	NM_002470.4	NP_002461.2:p.(Gly203ProfsTer78)	NC_000017.10:g.10552930_10552931insTGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATGGGG	(Likely) benign	1 lab	63eb6ec08f
19:11242011 LDLR G>A	19	11242011	11242011	G	A	LDLR	c.*19G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242011G>A	(Likely) benign	1 lab	63f065811f
16:85690139 GSE1 C>T	16	85690139	85690139	C	T	GSE1	c.1180C>T	NM_014615.5	NP_055430.1:p.(Arg394Trp)	NC_000016.9:g.85690139C>T	(Likely) benign	1 lab	63f5f13cfc
2:241659175 KIF1A G>A	2	241659175	241659175	G	A	KIF1A	c.5021+16C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241659175G>A	(Likely) benign	1 lab	63f6a994f7
2:179426268 TTN G>A	2	179426268	179426268	G	A	TTN	c.84591C>T	NM_001267550.2	NP_001254479.2:p.(Ser28197=)	NC_000002.11:g.179426268G>A	(Likely) benign	1 lab	63f764e25d
X:70443748 GJB1 G>C	X	70443748	70443748	G	C	GJB1	c.191G>C	NM_000166.6	NP_000157.1:p.(Cys64Ser)	NC_000023.10:g.70443748G>C	(Likely) pathogenic	1 lab	63f7918636
2:238247694 COL6A3 G>T	2	238247694	238247694	G	T	COL6A3	c.8531C>A	NM_004369.4	NP_004360.2:p.(Pro2844His)	NC_000002.11:g.238247694G>T	VUS	1 lab	64014cf804
2:21238086 APOB A>G	2	21238086	21238086	A	G	APOB	c.3555T>C	NM_000384.3	NP_000375.3:p.(Asp1185=)	NC_000002.11:g.21238086A>G	(Likely) benign	1 lab	640795fed1
11:9802031 SBF2 G>A	11	9802031	9802031	G	A	SBF2	c.5484C>T	NM_030962.4	NP_112224.1:p.(Cys1828=)	NC_000011.9:g.9802031G>A	(Likely) benign	1 lab	640c756d34
X:598654 MISSING T>Alt too long to show for this DUP	X	598654	681762	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.598658_681762dup	VUS	1 lab	640d1ad8ad
2:29543699 ALK G>A	2	29543699	29543699	G	A	ALK	c.1464C>T	NM_004304.5	NP_004295.2:p.(Gly488=)	NC_000002.11:g.29543699G>A	(Likely) benign	1 lab	640d6436a7
14:21679670 HNRNPC T>C	14	21679670	21679670	T	C	HNRNPC	c.732A>G	NM_031314.3	NP_112604.2:p.(Lys244=)	NC_000014.8:g.21679670T>C	(Likely) benign	1 lab	640e2558ad
11:134131195 ACAD8 GC>G	11	134131195	134131197	GC	G	ACAD8	c.870del	NM_014384.3	NP_055199.1:p.(Ser291LeufsTer41)	NC_000011.9:g.134131197del	(Likely) pathogenic	1 lab	6410116c61
14:23884226 MYH7 C>T	14	23884226	23884226	C	T	MYH7	c.5537G>A	NM_000257.4	NP_000248.2:p.(Arg1846His)	NC_000014.8:g.23884226C>T	VUS	1 lab	64108add3e
1:63063674 ANGPTL3 C>CT	1	63063674	63063675	C	CT	ANGPTL3	c.438dup	NM_014495.4	NP_055310.1:p.(Asn147Ter)	NC_000001.10:g.63063675dup	(Likely) pathogenic	1 lab	6411069eb5
2:179484335 TTN T>G	2	179484335	179484335	T	G	TTN	c.46696+13A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484335T>G	(Likely) benign	1 lab	64118f1204
15:63353933 TPM1 A>G	15	63353933	63353933	A	G	TPM1	c.585A>G	NM_001365776.1	NP_001352705.1:p.(Glu195=)	NC_000015.9:g.63353933A>G	(Likely) benign	1 lab	64151f7065
19:43439809 PSG7 G>A	19	43439809	43439809	G	A	PSG7	c.177C>T	NM_002783.3	NP_002774.2:p.(Pro59=)	NC_000019.9:g.43439809G>A	(Likely) benign	1 lab	6415265f1a
14:73013498 MISSING C>Alt too long to show for this DUP	14	73013498	73178171	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.73013499_73178171dup	VUS	1 lab	641691b4c4
16:68845680 CDH1 C>T	16	68845680	68845680	C	T	CDH1	c.926C>T	NM_004360.5	NP_004351.1:p.(Pro309Leu)	NC_000016.9:g.68845680C>T	VUS	1 lab	64204ef30e
8:19805777 LPL G>A	8	19805777	19805777	G	A	LPL	c.175G>A	NM_000237.3	NP_000228.1:p.(Gly59Arg)	NC_000008.10:g.19805777G>A	VUS	1 lab	642283d795
3:38912954 SCN11A G>T	3	38912954	38912954	G	T	SCN11A	c.3741C>A	NM_014139.3	NP_054858.2:p.(Tyr1247Ter)	NC_000003.11:g.38912954G>T	VUS	1 lab	6424777138
11:116661463 APOA5 T>A	11	116661463	116661463	T	A	APOA5	c.482A>T	NM_052968.5	NP_443200.2:p.(Gln161Leu)	NC_000011.9:g.116661463T>A	(Likely) pathogenic	1 lab	6427e54626
2:21250178 APOB A>ATTTT	2	21250178	21250201	A	ATTTT	APOB	c.2068-346_2068-343dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250198_21250201dup	(Likely) benign	1 lab	642d5f63a1
16:15820374 MYH11 C>T	16	15820374	15820374	C	T	MYH11	c.3858+331G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15820374C>T	(Likely) benign	1 lab	642daeb38c
3:178943735 PIK3CA T>C	3	178943735	178943735	T	C	PIK3CA	c.2417-15T>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178943735T>C	(Likely) benign	1 lab	64300bf4ef
19:15296233 NOTCH3 G>A	19	15296233	15296233	G	A	NOTCH3	c.2145-14C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15296233G>A	(Likely) benign	1 lab	643181ea13
3:48508851 ATRIP A>G	3	48508851	48508851	A	G	ATRIP	c.*1898A>G	NM_001271023.2	NP_001257952.1:p.?	NC_000003.11:g.48508851A>G	(Likely) benign	1 lab	6432b23d09
6:65767634 EYS GA>G	6	65767634	65767643	GA	G	EYS	c.2024-15del	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65767643del	(Likely) benign	1 lab	6432df3002
2:179411732 TTN A>G	2	179411732	179411732	A	G	TTN	c.94520T>C	NM_001267550.2	NP_001254479.2:p.(Val31507Ala)	NC_000002.11:g.179411732A>G	VUS	1 lab	6432fd391d
16:30731622 SRCAP G>A	16	30731622	30731622	G	A	SRCAP	c.2957G>A	NM_006662.3	NP_006653.2:p.(Arg986Gln)	NC_000016.9:g.30731622G>A	VUS	1 lab	64345a6ac3
3:38603915 SCN5A C>T	3	38603915	38603915	C	T	SCN5A	c.3954G>A	NM_198056.3	NP_932173.1:p.(Glu1318=)	NC_000003.11:g.38603915C>T	(Likely) benign	1 lab	6434c60afc
9:135787720 TSC1 G>A	9	135787720	135787720	G	A	TSC1	c.862C>T	NM_000368.5	NP_000359.1:p.(Arg288Cys)	NC_000009.11:g.135787720G>A	(Likely) benign	1 lab	6436f13aa4
11:19207879 CSRP3 G>A	11	19207879	19207879	G	A	CSRP3	c.298C>T	NM_003476.5	NP_003467.1:p.(Arg100Cys)	NC_000011.9:g.19207879G>A	VUS	1 lab	643a8b5c4a
15:58855862 LIPC C>G	15	58855862	58855862	C	G	LIPC	c.1328C>G	NM_000236.3	NP_000227.2:p.(Pro443Arg)	NC_000015.9:g.58855862C>G	(Likely) benign	1 lab	64400aa38f
4:6303268 WFS1 G>A	4	6303268	6303268	G	A	WFS1	c.1746G>A	NM_006005.3	NP_005996.2:p.(Val582=)	NC_000004.11:g.6303268G>A	(Likely) benign	1 lab	644028c704
1:218520226 TGFB2 G>A	1	218520226	218520226	G	A	TGFB2	c.183G>A	NM_001135599.4	NP_001129071.1:p.(Glu61=)	NC_000001.10:g.218520226G>A	(Likely) benign	1 lab	6442536181
1:55518331 PCSK9 G>C	1	55518331	55518331	G	C	PCSK9	c.666G>C	NM_174936.4	NP_777596.2:p.(Lys222Asn)	NC_000001.10:g.55518331G>C	VUS	1 lab	644ae34817
1:215847958 USH2A C>T	1	215847958	215847958	C	T	USH2A	c.13295G>A	NM_206933.4	NP_996816.3:p.(Ser4432Asn)	NC_000001.10:g.215847958C>T	(Likely) pathogenic	1 lab	644b334a27
X:38268162 OTC T>C	X	38268162	38268162	T	C	OTC	c.751T>C	NM_000531.6	NP_000522.3:p.(Leu251=)	NC_000023.10:g.38268162T>C	(Likely) benign	1 lab	644b59e91c
3:129695893 TRH C>T	3	129695893	129695893	C	T	TRH	c.563C>T	NM_007117.5	NP_009048.1:p.(Pro188Leu)	NC_000003.11:g.129695893C>T	(Likely) benign	1 lab	644e40813f
1:6531593 PLEKHG5 C>T	1	6531593	6531593	C	T	PLEKHG5	c.1236G>A	NM_198681.4	NP_941374.3:p.(Thr412=)	NC_000001.10:g.6531593C>T	(Likely) benign	1 lab	64510fb1de
3:49042318 P4HTM G>A	3	49042318	49042318	G	A	P4HTM	c.912G>A	NM_177938.2	NP_808807.2:p.(Ser304=)	NC_000003.11:g.49042318G>A	(Likely) benign	1 lab	646777c9d6
13:28496884 MISSING T>Alt too long to show for this DUP	13	28496884	28523597	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.28496885_28523597dup	VUS	1 lab	6453547466
3:38651220 SCN5A C>T	3	38651220	38651220	C	T	SCN5A	c.934+5G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38651220C>T	VUS	1 lab	64539de957
2:44105064 ABCG8 C>G	2	44105064	44105064	C	G	ABCG8	c.*12C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44105064C>G	(Likely) benign	1 lab	6453af4d44
X:114880523 PLS3 C>T	X	114880523	114880523	C	T	PLS3	c.1377+17C>T	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114880523C>T	(Likely) benign	1 lab	64546554f0
11:98997876 CNTN5 Ref too long to show for this DEL>T	11	98997876	99396242	Ref too long to show for this DEL	T	CNTN5	c.-210+105879_-70-30634del	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.98997879_99396242del	VUS	1 lab	645662dee1
2:179523737 TTN G>C	2	179523737	179523737	G	C	TTN	c.37448C>G	NM_001267550.2	NP_001254479.2:p.(Pro12483Arg)	NC_000002.11:g.179523737G>C	VUS	1 lab	6456b82cee
6:112462080 LAMA4 C>T	6	112462080	112462080	C	T	LAMA4	c.2858G>A	NM_001105206.3	NP_001098676.2:p.(Ser953Asn)	NC_000006.11:g.112462080C>T	VUS	1 lab	6456dc926a
11:108129722 ATM A>C	11	108129722	108129722	A	C	ATM	c.2386A>C	NM_000051.4	NP_000042.3:p.(Asn796His)	NC_000011.9:g.108129722A>C	VUS	1 lab	64590a7f63
2:15651109 NBAS C>T	2	15651109	15651109	C	T	NBAS	c.885+227G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15651109C>T	(Likely) benign	1 lab	645aa5c07b
2:179442700 TTN C>T	2	179442700	179442700	C	T	TTN	c.68527+15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442700C>T	(Likely) benign	1 lab	64606a6510
13:32969011 BRCA2 G>T	13	32969011	32969011	G	T	BRCA2	c.9442G>T	NM_000059.4	NP_000050.3:p.(Ala3148Ser)	NC_000013.10:g.32969011G>T	(Likely) benign	1 lab	64674912dc
18:6271156 L3MBTL4 Ref too long to show for this DEL>T	18	6271156	6284243	Ref too long to show for this DEL	T	L3MBTL4	c.127+17659_128-7120del	NM_001330559.2	NP_001317488.1:p.?	NC_000018.9:g.6271157_6284243del	VUS	1 lab	64684b851b
19:7616233 PNPLA6 C>T	19	7616233	7616233	C	T	PNPLA6	c.2212-15C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7616233C>T	(Likely) benign	1 lab	64691e70f5
11:111930670 DLAT G>T	11	111930670	111930670	G	T	DLAT	c.1558G>T	NM_001931.5	NP_001922.2:p.(Gly520Ter)	NC_000011.9:g.111930670G>T	VUS	1 lab	64696df076
9:33796703 PRSS3 C>G	9	33796703	33796703	C	G	PRSS3	c.145C>G	NM_001197097.3	NP_001184026.3:p.(Leu49Val)	NC_000009.11:g.33796703C>G	(Likely) benign	1 lab	646a4d5304
4:73414286 ADAMTS3 C>T	4	73414286	73414286	C	T	ADAMTS3	c.413G>A	NM_014243.3	NP_055058.2:p.(Arg138Lys)	NC_000004.11:g.73414286C>T	(Likely) benign	1 lab	646aee39a3
6:72892089 RIMS1 C>G	6	72892089	72892089	C	G	RIMS1	c.915C>G	NM_014989.6	NP_055804.2:p.(Val305=)	NC_000006.11:g.72892089C>G	(Likely) benign	1 lab	646cec098d
15:45454569 DUOX1 T>C	15	45454569	45454569	T	C	DUOX1	c.4242T>C	NM_017434.5	NP_059130.2:p.(Cys1414=)	NC_000015.9:g.45454569T>C	(Likely) benign	1 lab	646ea7114b
8:59409378 CYP7A1 C>T	8	59409378	59409378	C	T	CYP7A1	c.693G>A	NM_000780.4	NP_000771.2:p.(Ala231=)	NC_000008.10:g.59409378C>T	(Likely) benign	1 lab	646fdedaef
17:41243774 BRCA1 C>T	17	41243774	41243774	C	T	BRCA1	c.3774G>A	NM_007294.4	NP_009225.1:p.(Glu1258=)	NC_000017.10:g.41243774C>T	(Likely) benign	1 lab	6473a94a6d
6:83906115 MISSING C>Alt too long to show for this DUP	6	83906115	84126190	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.83906117_84126190dup	VUS	1 lab	64741d1915
14:102900768 TECPR2 A>G	14	102900768	102900768	A	G	TECPR2	c.1614A>G	NM_014844.5	NP_055659.2:p.(Pro538=)	NC_000014.8:g.102900768A>G	(Likely) benign	1 lab	647609de24
16:56995935 CETP C>G	16	56995935	56995935	C	G	CETP	c.44C>G	NM_000078.3	NP_000069.2:p.(Ala15Gly)	NC_000016.9:g.56995935C>G	(Likely) benign	1 lab	647c241fca
2:179435043 TTN G>A	2	179435043	179435043	G	A	TTN	c.68112C>T	NM_133378.4	NP_596869.4:p.(Gly22704=)	NC_000002.11:g.179435043G>A	VUS	1 lab	647d488542
10:90974729 LIPA G>A	10	90974729	90974729	G	A	LIPA	c.1056C>T	NM_001127605.3	NP_001121077.1:p.(Asp352=)	NC_000010.10:g.90974729G>A	(Likely) benign	1 lab	647e47f0e1
11:88911285 TYR G>A	11	88911285	88911285	G	A	TYR	c.164G>A	NM_000372.5	NP_000363.1:p.(Cys55Tyr)	NC_000011.9:g.88911285G>A	(Likely) pathogenic	1 lab	64835917c0
3:195515322 MUC4 G>A	3	195515322	195515322	G	A	MUC4	c.3129C>T	NM_018406.7	NP_060876.5:p.(Val1043=)	NC_000003.11:g.195515322G>A	(Likely) benign	1 lab	648ebd3b54
5:82841381 VCAN G>A	5	82841381	82841381	G	A	VCAN	c.9291G>A	NM_004385.5	NP_004376.2:p.(Pro3097=)	NC_000005.9:g.82841381G>A	(Likely) benign	1 lab	64917b0494
1:35250949 GJB3 G>A	1	35250949	35250949	G	A	GJB3	c.586G>A	NM_024009.3	NP_076872.1:p.(Ala196Thr)	NC_000001.10:g.35250949G>A	VUS	1 lab	64918bd73a
9:111660982 ELP1 T>C	9	111660982	111660982	T	C	ELP1	c.2252A>G	NM_003640.5	NP_003631.2:p.(Asn751Ser)	NC_000009.11:g.111660982T>C	VUS	1 lab	649a2e5ac2
X:70443861 GJB1 G>T	X	70443861	70443861	G	T	GJB1	c.304G>T	NM_000166.6	NP_000157.1:p.(Glu102Ter)	NC_000023.10:g.70443861G>T	(Likely) pathogenic	1 lab	649ae569ef
18:47101943 LIPG G>A	18	47101943	47101943	G	A	LIPG	c.776G>A	NM_006033.4	NP_006024.1:p.(Gly259Glu)	NC_000018.9:g.47101943G>A	VUS	1 lab	649cfbdc6a
5:133541662 PPP2CA T>C	5	133541662	133541662	T	C	PPP2CA	c.263A>G	NM_002715.4	NP_002706.1:p.(Asp88Gly)	NC_000005.9:g.133541662T>C	(Likely) pathogenic	1 lab	649feb3356
1:75009607 TNNI3K A>G	1	75009607	75009607	A	G	TNNI3K	c.2449A>G	NM_015978.3	NP_057062.1:p.(Met817Val)	NC_000001.10:g.75009607A>G	(Likely) benign	1 lab	64a043cd11
19:11224320 LDLR T>G	19	11224320	11224320	T	G	LDLR	c.1468T>G	NM_000527.5	NP_000518.1:p.(Trp490Gly)	NC_000019.9:g.11224320T>G	(Likely) pathogenic	1 lab	64a1e77ff2
3:14175317 TMEM43 T>C	3	14175317	14175317	T	C	TMEM43	c.583+8T>C	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14175317T>C	(Likely) benign	1 lab	64a4111d8e
6:7585334 DSP G>A	6	7585334	7585334	G	A	DSP	c.7839G>A	NM_004415.4	NP_004406.2:p.(Leu2613=)	NC_000006.11:g.7585334G>A	(Likely) benign	1 lab	64a5035b8c
5:89949510 ADGRV1 G>A	5	89949510	89949510	G	A	ADGRV1	c.4119G>A	NM_032119.4	NP_115495.3:p.(Ala1373=)	NC_000005.9:g.89949510G>A	(Likely) benign	1 lab	64a52b6be7
14:51095149 ATL1 T>C	14	51095149	51095149	T	C	ATL1	c.1520T>C	NM_001127713.1	NP_001121185.1:p.(Ile507Thr)	NC_000014.8:g.51095149T>C	VUS	1 lab	64a5e4fbd1
20:33632332 TRPC4AP G>A	20	33632332	33632332	G	A	TRPC4AP	c.841C>T	NM_015638.3	NP_056453.1:p.(Pro281Ser)	NC_000020.10:g.33632332G>A	VUS	1 lab	64a61c0482
19:11233777 LDLR G>A	19	11233777	11233777	G	A	LDLR	c.2141-73G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233777G>A	(Likely) benign	1 lab	64a77e1bca
2:179500047 TTN A>G	2	179500047	179500047	A	G	TTN	c.41885-16T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179500047A>G	(Likely) benign	1 lab	64ac04cc1e
11:68171439 LRP5 G>A	11	68171439	68171439	G	A	LRP5	c.1801+272G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68171439G>A	(Likely) benign	1 lab	64ad8355a8
19:50919798 POLD1 CAG>C	19	50919798	50919800	CAG	C	POLD1	c.2953+14_2953+15del	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50919799_50919800del	(Likely) benign	1 lab	64afe675e3
2:21236070 APOB G>A	2	21236070	21236070	G	A	APOB	c.4178C>T	NM_000384.3	NP_000375.3:p.(Ala1393Val)	NC_000002.11:g.21236070G>A	(Likely) benign	1 lab	64b7171bb9
6:32032756 TNXB A>T	6	32032756	32032756	A	T	TNXB	c.6683T>A	NM_019105.8	NP_061978.6:p.(Phe2228Tyr)	NC_000006.11:g.32032756A>T	(Likely) benign	1 lab	64b74d51ca
12:49436413 KMT2D C>T	12	49436413	49436413	C	T	KMT2D	c.5798G>A	NM_003482.4	NP_003473.3:p.(Gly1933Asp)	NC_000012.11:g.49436413C>T	(Likely) benign	1 lab	64b809d352
16:57005290 CETP G>C	16	57005290	57005290	G	C	CETP	c.655G>C	NM_000078.3	NP_000069.2:p.(Ala219Pro)	NC_000016.9:g.57005290G>C	VUS	1 lab	64b976ae03
5:32774840 NPR3 C>T	5	32774840	32774840	C	T	NPR3	c.1086C>T	NM_001204375.2	NP_001191304.1:p.(His362=)	NC_000005.9:g.32774840C>T	(Likely) benign	1 lab	64b9cd8cab
19:41916875 BCKDHA T>G	19	41916875	41916875	T	G	BCKDHA	c.336T>G	NM_000709.4	NP_000700.1:p.(Leu112=)	NC_000019.9:g.41916875T>G	(Likely) benign	1 lab	64ba22d9db
X:83284795 MISSING T>Alt too long to show for this DUP	X	83284795	83340851	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.83284796_83340851dup	VUS	1 lab	64bc82e422
2:8916919 KIDINS220 G>A	2	8916919	8916919	G	A	KIDINS220	c.2807C>T	NM_020738.4	NP_065789.1:p.(Pro936Leu)	NC_000002.11:g.8916919G>A	VUS	1 lab	64c1563d2d
20:61460107 COL9A3 T>C	20	61460107	61460107	T	C	COL9A3	c.901-9T>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61460107T>C	(Likely) benign	1 lab	64c1af2a74
8:62550924 ASPH TA>T	8	62550924	62550937	TA	T	ASPH	c.791-3del	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62550937del	(Likely) benign	1 lab	64c3315336
9:107554828 ABCA1 T>G	9	107554828	107554828	T	G	ABCA1	c.5757+239A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554828T>G	(Likely) benign	1 lab	64c6d20ed7
4:120085395 MYOZ2 CCTG>C	4	120085395	120085398	CCTG	C	MYOZ2	c.407_409del	NM_016599.5	NP_057683.1:p.(Pro136_Glu137delinsGln)	NC_000004.11:g.120085396_120085398del	VUS	1 lab	64c725a901
6:137219261 PEX7 C>T	6	137219261	137219261	C	T	PEX7	c.804-19C>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137219261C>T	(Likely) benign	1 lab	64cb9a2238
9:27173237 TEK T>C	9	27173237	27173237	T	C	TEK	c.778T>C	NM_000459.5	NP_000450.3:p.(Phe260Leu)	NC_000009.11:g.27173237T>C	VUS	1 lab	64ce65cf99
10:102781636 PDZD7 G>A	10	102781636	102781636	G	A	PDZD7	c.786C>T	NM_001195263.2	NP_001182192.1:p.(Asn262=)	NC_000010.10:g.102781636G>A	(Likely) benign	1 lab	64d0499e93
16:943050 LMF1 T>TC	16	943050	943056	T	TC	LMF1	c.286dup	NM_001352018.2	NP_001338947.1:p.(Asp96GlyfsTer15)	NC_000016.9:g.943056dup	(Likely) pathogenic	1 lab	64d5a810d7
7:104753239 KMT2E CA>C	7	104753239	104753240	CA	C	KMT2E	c.5037del	NM_182931.3	NP_891847.1:p.(Pro1681HisfsTer31)	NC_000007.13:g.104753240del	(Likely) benign	1 lab	64d5efba5a
3:48627962 COL7A1 C>A	3	48627962	48627962	C	A	COL7A1	c.1836G>T	NM_000094.4	NP_000085.1:p.(Thr612=)	NC_000003.11:g.48627962C>A	(Likely) benign	1 lab	64d6f62c48
8:27334941 MISSING Ref too long to show for this DEL>T	8	27334941	27361796	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.27334942_27361796del	VUS	1 lab	64d8faf098
X:70443640 GJB1 T>A	X	70443640	70443640	T	A	GJB1	c.83T>A	NM_000166.6	NP_000157.1:p.(Ile28Asn)	NC_000023.10:g.70443640T>A	(Likely) pathogenic	1 lab	64dce5c4d3
3:78666765 ROBO1 T>C	3	78666765	78666765	T	C	ROBO1	c.4147+20A>G	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78666765T>C	(Likely) benign	1 lab	64dd23b37c
X:67843204 MISSING G>Alt too long to show for this DUP	X	67843204	68677774	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.67843205_68677774dup	(Likely) pathogenic	1 lab	64ddb1c1b1
X:153167261 MISSING C>Alt too long to show for this DUP	X	153167261	153183819	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153167263_153183819dup	VUS	1 lab	64e2333303
20:43034693 HNF4A C>T	20	43034693	43034693	C	T	HNF4A	c.95-5C>T	NM_001258355.2	NP_001245284.1:p.?	NC_000020.10:g.43034693C>T	(Likely) benign	1 lab	64e37d8450
5:149441147 CSF1R C>T	5	149441147	149441147	C	T	CSF1R	c.1765G>A	NM_005211.4	NP_005202.2:p.(Gly589Arg)	NC_000005.9:g.149441147C>T	(Likely) pathogenic	1 lab	64e87c0b89
15:85399954 ALPK3 T>A	15	85399954	85399954	T	A	ALPK3	c.1985T>A	NM_020778.5	NP_065829.4:p.(Met662Lys)	NC_000015.9:g.85399954T>A	VUS	1 lab	64e8be9060
14:23874927 MYH6 T>G	14	23874927	23874927	T	G	MYH6	c.254A>C	NM_002471.4	NP_002462.2:p.(Asp85Ala)	NC_000014.8:g.23874927T>G	VUS	1 lab	64e94cbef7
8:59409585 CYP7A1 C>CTTT	8	59409585	59409588	C	CTTT	CYP7A1	c.483_485dup	NM_000780.4	NP_000771.2:p.(Lys162dup)	NC_000008.10:g.59409586_59409588dup	VUS	1 lab	64ea870be6
15:52427826 GNB5 T>C	15	52427826	52427826	T	C	GNB5	c.629A>G	NM_006578.4	NP_006569.1:p.(Asn210Ser)	NC_000015.9:g.52427826T>C	(Likely) benign	1 lab	64edc9c4ba
13:45630697 MISSING G>Alt too long to show for this DUP	13	45630697	45900056	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.45630698_45900056dup	VUS	1 lab	64ee8c93b0
19:11216124 LDLR C>G	19	11216124	11216124	C	G	LDLR	c.542C>G	NM_000527.5	NP_000518.1:p.(Pro181Arg)	NC_000019.9:g.11216124C>G	(Likely) pathogenic	1 lab	64f0d1b7f2
1:1167675 B3GALT6 G>A	1	1167675	1167675	G	A	B3GALT6	c.17G>A	NM_080605.4	NP_542172.2:p.(Arg6Gln)	NC_000001.10:g.1167675G>A	(Likely) benign	1 lab	64f151f6e4
6:129826464 LAMA2 G>GT	6	129826464	129826466	G	GT	LAMA2	c.8669dup	NM_000426.4	NP_000417.3:p.(Leu2890PhefsTer16)	NC_000006.11:g.129826466dup	(Likely) pathogenic	1 lab	64f21c3258
11:68191178 LRP5 CGGGT>C	11	68191178	68191189	CGGGT	C	LRP5	c.3236+21_3236+24del	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68191186_68191189del	(Likely) benign	1 lab	64f21c400d
2:33606733 MISSING T>Alt too long to show for this DUP	2	33606733	33696716	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.33606734_33696716dup	VUS	1 lab	64f2e55dc4
X:135432926 ADGRG4 C>Alt too long to show for this DUP	X	135432926	135447221	C	Alt too long to show for this DUP	ADGRG4	c.6727+335_7396+1467dup	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135432927_135447221dup	VUS	1 lab	64f4cdeb5e
15:75146379 SCAMP2 T>A	15	75146379	75146379	T	A	SCAMP2	c.208A>T	NM_001320778.2	NP_001307707.1:p.(Thr70Ser)	NC_000015.9:g.75146379T>A	(Likely) benign	1 lab	64f5d8f8ed
1:236911012 ACTN2 G>C	1	236911012	236911012	G	C	ACTN2	c.1452G>C	NM_001103.4	NP_001094.1:p.(Gln484His)	NC_000001.10:g.236911012G>C	(Likely) benign	1 lab	64f784634c
16:1002732 LMF1 T>C	16	1002732	1002732	T	C	LMF1	c.-52+1625A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1002732T>C	(Likely) benign	1 lab	64faf3a73b
5:89910639 ADGRV1 C>G	5	89910639	89910639	C	G	ADGRV1	c.23-13C>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910639C>G	(Likely) benign	1 lab	64fdd64d32
9:87325564 NTRK2 C>T	9	87325564	87325564	C	T	NTRK2	c.441C>T	NM_006180.6	NP_006171.2:p.(Gly147=)	NC_000009.11:g.87325564C>T	(Likely) benign	1 lab	650046175d
6:7575951 DSP A>C	6	7575951	7575951	A	C	DSP	c.2630+230A>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7575951A>C	(Likely) benign	1 lab	6505348ced
15:45427315 DUOX1 T>C	15	45427315	45427315	T	C	DUOX1	c.321T>C	NM_017434.5	NP_059130.2:p.(Leu107=)	NC_000015.9:g.45427315T>C	(Likely) benign	1 lab	6505908ede
14:23862698 MYH6 C>G	14	23862698	23862698	C	G	MYH6	c.2958G>C	NM_002471.4	NP_002462.2:p.(Gly986=)	NC_000014.8:g.23862698C>G	(Likely) benign	1 lab	65067e1d3e
2:179433407 TTN-AS1 C>A	2	179433407	179433407	C	A	TTN-AS1	n.2044-13892C>A	NR_038272.1		NC_000002.11:g.179433407C>A	(Likely) benign	1 lab	650749fa11
10:116060005 AFAP1L2 G>C	10	116060005	116060005	G	C	AFAP1L2	c.2064C>G	NM_001287824.2	NP_001274753.1:p.(Thr688=)	NC_000010.10:g.116060005G>C	(Likely) benign	1 lab	65091ec305
10:67748478 CTNNA3 T>C	10	67748478	67748478	T	C	CTNNA3	c.2237A>G	NM_013266.4	NP_037398.2:p.(Asp746Gly)	NC_000010.10:g.67748478T>C	VUS	1 lab	650aaf0cff
17:41246540 BRCA1 T>A	17	41246540	41246540	T	A	BRCA1	c.1008A>T	NM_007294.4	NP_009225.1:p.(Thr336=)	NC_000017.10:g.41246540T>A	(Likely) benign	1 lab	650ac1d05c
20:21209771 KIZ G>A	20	21209771	21209771	G	A	KIZ	c.1441+18G>A	NM_001352436.2	NP_001339365.1:p.?	NC_000020.10:g.21209771G>A	(Likely) benign	1 lab	650ae7edb8
2:179440298 TTN T>C	2	179440298	179440298	T	C	TTN	c.70561A>G	NM_001267550.2	NP_001254479.2:p.(Thr23521Ala)	NC_000002.11:g.179440298T>C	VUS	1 lab	650ff3fcb3
16:15835903 MYH11 G>C	16	15835903	15835903	G	C	MYH11	c.2521-155C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15835903G>C	(Likely) benign	1 lab	65116fcdb7
17:6330313 AIPL1 G>A	17	6330313	6330313	G	A	AIPL1	c.413C>T	NM_001285402.2	NP_001272331.1:p.(Ala138Val)	NC_000017.10:g.6330313G>A	(Likely) benign	1 lab	6511f8b5b2
11:47371876 MYBPC3 T>C	11	47371876	47371876	T	C	MYBPC3	c.406+177A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371876T>C	(Likely) benign	1 lab	65beac8842
10:112572061 RBM20 C>G	10	112572061	112572061	C	G	RBM20	c.1906C>G	NM_001134363.3	NP_001127835.2:p.(Arg636Gly)	NC_000010.10:g.112572061C>G	(Likely) pathogenic	1 lab	6515a0e5ed
2:179613343 TTN C>G	2	179613343	179613343	C	G	TTN	c.13784G>C	NM_133379.5	NP_596870.2:p.(Ser4595Thr)	NC_000002.11:g.179613343C>G	VUS	1 lab	651659074e
5:178413549 GRM6 G>A	5	178413549	178413549	G	A	GRM6	c.1706C>T	NM_000843.4	NP_000834.2:p.(Thr569Met)	NC_000005.9:g.178413549G>A	VUS	1 lab	65189b051d
12:76740810 BBS10 C>G	12	76740810	76740810	C	G	BBS10	c.955G>C	NM_024685.4	NP_078961.3:p.(Val319Leu)	NC_000012.11:g.76740810C>G	VUS	1 lab	651c406f64
9:107594770 ABCA1 CT>C	9	107594770	107594772	CT	C	ABCA1	c.1509+84del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594772del	(Likely) benign	1 lab	651cd88926
X:41333923 NYX C>G	X	41333923	41333923	C	G	NYX	c.1217C>G	NM_022567.2	NP_072089.1:p.(Ala406Gly)	NC_000023.10:g.41333923C>G	(Likely) benign	1 lab	651d50ed27
16:15811011 MYH11 G>A	16	15811011	15811011	G	A	MYH11	c.5490C>T	NM_002474.3	NP_002465.1:p.(Val1830=)	NC_000016.9:g.15811011G>A	(Likely) benign	1 lab	6524dd1482
2:227661631 IRS1 C>T	2	227661631	227661631	C	T	IRS1	c.1824G>A	NM_005544.3	NP_005535.1:p.(Thr608=)	NC_000002.11:g.227661631C>T	(Likely) benign	1 lab	652516451d
15:101002905 MISSING Ref too long to show for this DEL>C	15	101002905	102405088	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.101002906_102405088del	(Likely) pathogenic	1 lab	6527c1ec91
7:158257745 MISSING G>Alt too long to show for this DUP	7	158257745	158445432	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.158257746_158445432dup	VUS	1 lab	6528f577b3
17:79495891 FSCN2 G>C	17	79495891	79495891	G	C	FSCN2	c.334G>C	NM_001077182.3	NP_001070650.1:p.(Gly112Arg)	NC_000017.10:g.79495891G>C	(Likely) benign	1 lab	6529fd8de2
2:179432832 TTN T>C	2	179432832	179432832	T	C	TTN	c.78027A>G	NM_001267550.2	NP_001254479.2:p.(Ile26009Met)	NC_000002.11:g.179432832T>C	(Likely) benign	1 lab	652b4bf4af
19:45451725 APOC2 C>T	19	45451725	45451725	C	T	APOC2	c.-11C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451725C>T	VUS	1 lab	652bbec86c
3:129155784 MBD4 C>T	3	129155784	129155784	C	T	MBD4	c.703G>A	NM_003925.3	NP_003916.1:p.(Val235Met)	NC_000003.11:g.129155784C>T	VUS	1 lab	652c446211
17:59853735 BRIP1 CA>C	17	59853735	59853739	CA	C	BRIP1	c.2097+26del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59853739del	(Likely) benign	1 lab	652c8d2ba5
16:77328895 ADAMTS18 C>T	16	77328895	77328895	C	T	ADAMTS18	c.2931G>A	NM_199355.4	NP_955387.1:p.(Val977=)	NC_000016.9:g.77328895C>T	(Likely) benign	1 lab	652e9aa6ec
3:57994595 FLNB G>C	3	57994595	57994595	G	C	FLNB	c.292+12G>C	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.57994595G>C	(Likely) benign	1 lab	65301487ef
3:136035883 PCCB G>A	3	136035883	136035883	G	A	PCCB	c.1127G>A	NM_001178014.2	NP_001171485.1:p.(Gly376Asp)	NC_000003.11:g.136035883G>A	(Likely) pathogenic	1 lab	6533fbfa8a
17:1340131 MISSING A>Alt too long to show for this DUP	17	1340131	2158129	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.1340132_2158129dup	VUS	1 lab	667179820a
2:21234986 APOB T>A	2	21234986	21234986	T	A	APOB	c.4754A>T	NM_000384.3	NP_000375.3:p.(Asn1585Ile)	NC_000002.11:g.21234986T>A	VUS	1 lab	65365af0d0
6:7580743 DSP G>A	6	7580743	7580743	G	A	DSP	c.4320G>A	NM_004415.4	NP_004406.2:p.(Val1440=)	NC_000006.11:g.7580743G>A	(Likely) benign	1 lab	65375711bc
2:21237424 APOB A>C	2	21237424	21237424	A	C	APOB	c.3738T>G	NM_000384.3	NP_000375.3:p.(Pro1246=)	NC_000002.11:g.21237424A>C	(Likely) benign	1 lab	653765495e
9:35079502 FANCG G>A	9	35079502	35079502	G	A	FANCG	c.20C>T	NM_004629.2	NP_004620.1:p.(Ser7Phe)	NC_000009.11:g.35079502G>A	(Likely) benign	1 lab	65394a9380
8:42873636 HOOK3 A>C	8	42873636	42873636	A	C	HOOK3	c.2152A>C	NM_032410.4	NP_115786.1:p.(Arg718=)	NC_000008.10:g.42873636A>C	(Likely) benign	1 lab	653ecef860
X:70444167 GJB1 C>T	X	70444167	70444167	C	T	GJB1	c.610C>T	NM_000166.6	NP_000157.1:p.(Leu204Phe)	NC_000023.10:g.70444167C>T	(Likely) pathogenic	1 lab	6544417859
3:49044304 P4HTM G>A	3	49044304	49044304	G	A	P4HTM	c.1473G>A	NM_177939.3	NP_808808.1:p.(Leu491=)	NC_000003.11:g.49044304G>A	(Likely) benign	1 lab	654479e195
11:76804876 CAPN5 A>T	11	76804876	76804876	A	T	CAPN5	c.297+17A>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76804876A>T	(Likely) benign	1 lab	65448ad2eb
1:236881197 ACTN2 G>A	1	236881197	236881197	G	A	ACTN2	c.166G>A	NM_001103.4	NP_001094.1:p.(Gly56Ser)	NC_000001.10:g.236881197G>A	VUS	1 lab	654650a307
18:29116265 DSG2 C>T	18	29116265	29116265	C	T	DSG2	c.1524C>T	NM_001943.5	NP_001934.2:p.(His508=)	NC_000018.9:g.29116265C>T	(Likely) benign	1 lab	6548580b5e
1:55524223 PCSK9 G>A	1	55524223	55524223	G	A	PCSK9	c.1406G>A	NM_174936.4	NP_777596.2:p.(Arg469Gln)	NC_000001.10:g.55524223G>A	VUS	1 lab	654a9bbdbb
11:69633552 FGF3 G>T	11	69633552	69633552	G	T	FGF3	c.150C>A	NM_005247.4	NP_005238.1:p.(Cys50Ter)	NC_000011.9:g.69633552G>T	(Likely) pathogenic	1 lab	654b99eb8e
17:59122077 BCAS3 Ref too long to show for this DEL>C	17	59122077	59182777	Ref too long to show for this DEL	C	BCAS3	c.2029+3825_2425+20852del	NM_017679.5	NP_060149.3:p.?	NC_000017.10:g.59122078_59182777del	VUS	1 lab	654d432247
19:11240173 LDLR G>T	19	11240173	11240173	G	T	LDLR	c.2390-16G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240173G>T	(Likely) benign	1 lab	65501261b6
19:1796236 ATP8B3 G>A	19	1796236	1796236	G	A	ATP8B3	c.1782C>T	NM_138813.4	NP_620168.1:p.(Pro594=)	NC_000019.9:g.1796236G>A	(Likely) benign	1 lab	6550965b57
11:95583916 MTMR2 A>ATACTCTAAAAGAGGGT	11	95583916	95583917	A	ATACTCTAAAAGAGGGT	MTMR2	c.439-4_439-3insACCCTCTTTTAGAGTA	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583916_95583917insTACTCTAAAAGAGGGT	(Likely) benign	1 lab	655154efbb
2:21231379 APOB T>C	2	21231379	21231379	T	C	APOB	c.8361A>G	NM_000384.3	NP_000375.3:p.(Ala2787=)	NC_000002.11:g.21231379T>C	VUS	1 lab	6552234fc7
1:100671866 DBT T>TA	1	100671866	100671879	T	TA	DBT	c.1210-10dup	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671879dup	(Likely) benign	1 lab	6553c527d7
18:47096294 LIPG G>A	18	47096294	47096294	G	A	LIPG	c.571+376G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47096294G>A	(Likely) benign	1 lab	6554687ed1
2:73777432 ALMS1 G>A	2	73777432	73777432	G	A	ALMS1	c.9949G>A	NM_015120.4	NP_055935.4:p.(Val3317Met)	NC_000002.11:g.73777432G>A	(Likely) benign	1 lab	655773e9e9
11:123989012 VWA5A G>A	11	123989012	123989012	G	A	VWA5A	c.363G>A	NM_001130142.2	NP_001123614.1:p.(Ser121=)	NC_000011.9:g.123989012G>A	(Likely) benign	1 lab	655d499af7
3:38617144 SCN5A C>T	3	38617144	38617144	C	T	SCN5A	c.3512-202G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38617144C>T	(Likely) benign	1 lab	655eca1e51
2:21228199 APOB G>A	2	21228199	21228199	G	A	APOB	c.11541C>T	NM_000384.3	NP_000375.3:p.(Ile3847=)	NC_000002.11:g.21228199G>A	(Likely) benign	1 lab	655f81d732
2:179474440 TTN G>A	2	179474440	179474440	G	A	TTN	c.51710C>T	NM_001267550.2	NP_001254479.2:p.(Thr17237Ile)	NC_000002.11:g.179474440G>A	VUS	1 lab	6560683313
8:101721705 PABPC1 G>T	8	101721705	101721705	G	T	PABPC1	c.1227C>A	NM_002568.4	NP_002559.2:p.(Phe409Leu)	NC_000008.10:g.101721705G>T	(Likely) benign	1 lab	6560ba84fd
11:65829457 SF3B2 G>A	11	65829457	65829457	G	A	SF3B2	c.1965G>A	NM_006842.3	NP_006833.2:p.(Ser655=)	NC_000011.9:g.65829457G>A	(Likely) benign	1 lab	6562bce197
22:42525085 CYP2D6 CA>C	22	42525085	42525086	CA	C	CYP2D6	c.454del	NM_000106.6	NP_000097.3:p.(Trp152GlyfsTer2)	NC_000022.10:g.42525086del	(Likely) pathogenic	1 lab	6562d3297c
1:23929922 MISSING Ref too long to show for this DEL>G	1	23929922	23970131	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.23929924_23970131del	VUS	1 lab	6562f27310
3:46902150 MYL3 C>T	3	46902150	46902150	C	T	MYL3	c.307+16G>A	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902150C>T	(Likely) benign	1 lab	656370b0cf
9:80861604 CEP78 C>T	9	80861604	80861604	C	T	CEP78	c.798C>T	NM_001098802.3	NP_001092272.1:p.(Cys266=)	NC_000009.11:g.80861604C>T	(Likely) benign	1 lab	6563a43489
11:119210936 C1QTNF5 CGCCGTCGCG>C	11	119210936	119210957	CGCCGTCGCG	C	C1QTNF5	c.163_171del	NM_015645.5	NP_056460.1:p.(Arg55_Gly57del)	NC_000011.9:g.119210949_119210957del	VUS	1 lab	6563b09c8f
1:116936263 ATP1A1 G>A	1	116936263	116936263	G	A	ATP1A1	c.1578G>A	NM_001160233.2	NP_001153705.1:p.(Lys526=)	NC_000001.10:g.116936263G>A	(Likely) benign	1 lab	6564ca50d4
11:108225556 ATM G>A	11	108225556	108225556	G	A	ATM	c.8805G>A	NM_000051.4	NP_000042.3:p.(Met2935Ile)	NC_000011.9:g.108225556G>A	VUS	1 lab	65656d0392
2:152402515 NEB T>TAAAAAAA	2	152402515	152402532	T	TAAAAAAA	NEB	c.20467-10_20467-4dup	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402526_152402532dup	(Likely) benign	1 lab	65668410b5
X:79940974 BRWD3 G>T	X	79940974	79940974	G	T	BRWD3	c.4067C>A	NM_153252.5	NP_694984.5:p.(Ser1356Ter)	NC_000023.10:g.79940974G>T	(Likely) pathogenic	1 lab	656911f8b8
11:47366159 MYBPC3 G>A	11	47366159	47366159	G	A	MYBPC3	c.1091-984C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366159G>A	(Likely) benign	1 lab	656c743a43
11:47358545 MYBPC3 G>A	11	47358545	47358545	G	A	MYBPC3	c.2602+397C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358545G>A	(Likely) benign	1 lab	656fedce0c
1:197403988 CRB1 C>T	1	197403988	197403988	C	T	CRB1	c.2923C>T	NM_001257965.2	NP_001244894.1:p.(Leu975Phe)	NC_000001.10:g.197403988C>T	VUS	1 lab	6571f00ff5
1:236918752 ACTN2 A>G	1	236918752	236918752	A	G	ACTN2	c.2154+254A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236918752A>G	(Likely) benign	1 lab	65723692e6
19:3700323 PIP5K1C C>A	19	3700323	3700323	C	A	PIP5K1C	c.66G>T	NM_012398.3	NP_036530.1:p.(Ala22=)	NC_000019.9:g.3700323C>A	(Likely) benign	1 lab	6573aedf61
15:45445692 DUOX1 ATGTG>A	15	45445692	45445745	ATGTG	A	DUOX1	c.3524+65_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445742_45445745del	(Likely) benign	1 lab	65746b83ab
16:160562 NPRL3 T>C	16	160562	160562	T	C	NPRL3	c.590A>G	NM_001077350.3	NP_001070818.1:p.(Lys197Arg)	NC_000016.9:g.160562T>C	VUS	1 lab	6574a30c35
3:165548529 BCHE T>C	3	165548529	165548529	T	C	BCHE	c.293A>G	NM_000055.4	NP_000046.1:p.(Asp98Gly)	NC_000003.11:g.165548529T>C	(Likely) pathogenic	1 lab	6575709ef1
3:14173173 TMEM43 A>G	3	14173173	14173173	A	G	TMEM43	c.391A>G	NM_024334.3	NP_077310.1:p.(Arg131Gly)	NC_000003.11:g.14173173A>G	VUS	1 lab	6578c20d9b
12:27284904 MISSING Ref too long to show for this DEL>T	12	27284904	27784896	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.27284906_27784896del	VUS	1 lab	657b1b4616
22:50913206 SBF1 G>A	22	50913206	50913206	G	A	SBF1	c.55+9C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50913206G>A	(Likely) benign	1 lab	65820aa13d
2:179422562 TTN G>A	2	179422562	179422562	G	A	TTN	c.87519C>T	NM_001267550.2	NP_001254479.2:p.(Tyr29173=)	NC_000002.11:g.179422562G>A	(Likely) benign	1 lab	6584fe2604
16:77401350 ADAMTS18 G>A	16	77401350	77401350	G	A	ADAMTS18	c.766C>T	NM_199355.4	NP_955387.1:p.(Arg256Ter)	NC_000016.9:g.77401350G>A	(Likely) pathogenic	1 lab	6585626425
2:21260058 APOB T>C	2	21260058	21260058	T	C	APOB	c.607A>G	NM_000384.3	NP_000375.3:p.(Ile203Val)	NC_000002.11:g.21260058T>C	(Likely) benign	1 lab	65870f221d
3:187908577 MISSING Ref too long to show for this DEL>C	3	187908577	192142528	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.187908578_192142528del	(Likely) pathogenic	1 lab	6589019131
16:88800913 PIEZO1 C>T	16	88800913	88800913	C	T	PIEZO1	c.2031G>A	NM_001142864.4	NP_001136336.2:p.(Val677=)	NC_000016.9:g.88800913C>T	(Likely) benign	1 lab	658a3170b4
2:211457632 CPS1 C>T	2	211457632	211457632	C	T	CPS1	c.1116C>T	NM_001875.5	NP_001866.2:p.(Phe372=)	NC_000002.11:g.211457632C>T	(Likely) benign	1 lab	658a74969e
6:1038123 MISSING T>Alt too long to show for this DUP	6	1038123	1305572	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.1038124_1305572dup	VUS	1 lab	658bab43fa
6:56397164 DST A>G	6	56397164	56397164	A	G	DST	c.10729T>C	NM_001144769.5	NP_001138241.1:p.(Leu3577=)	NC_000006.11:g.56397164A>G	(Likely) benign	1 lab	658be92ca5
X:151900480 MAGEA12 T>C	X	151900480	151900480	T	C	MAGEA12	c.321A>G	NM_005367.7	NP_005358.2:p.(Val107=)	NC_000023.10:g.151900480T>C	(Likely) benign	1 lab	658d874f3c
17:59857667 BRIP1 T>C	17	59857667	59857667	T	C	BRIP1	c.1890A>G	NM_032043.3	NP_114432.2:p.(Thr630=)	NC_000017.10:g.59857667T>C	(Likely) benign	1 lab	65903547d7
1:63877483 ALG6 A>G	1	63877483	63877483	A	G	ALG6	c.681-114A>G	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63877483A>G	(Likely) pathogenic	1 lab	65bc4861ab
2:44055649 ABCG5 A>C	2	44055649	44055649	A	C	ABCG5	c.502-395T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055649A>C	(Likely) benign	1 lab	65915c3932
17:59732121 MISSING A>Alt too long to show for this DUP	17	59732121	59775750	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.59732123_59775750dup	VUS	1 lab	6591dde00e
9:107568547 ABCA1 C>G	9	107568547	107568547	C	G	ABCA1	c.4439G>C	NM_005502.4	NP_005493.2:p.(Gly1480Ala)	NC_000009.11:g.107568547C>G	VUS	1 lab	65920a9ce3
6:32011325 TNXB C>T	6	32011325	32011325	C	T	TNXB	c.11533G>A	NM_019105.8	NP_061978.6:p.(Gly3845Ser)	NC_000006.11:g.32011325C>T	VUS	1 lab	6593e5fbf1
2:21239884 APOB A>T	2	21239884	21239884	A	T	APOB	c.3122-363T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239884A>T	(Likely) benign	1 lab	659deda3dd
16:67974149 LCAT T>G	16	67974149	67974149	T	G	LCAT	c.981A>C	NM_000229.2	NP_000220.1:p.(Gly327=)	NC_000016.9:g.67974149T>G	(Likely) benign	1 lab	65a00abc46
9:33385815 AQP7 T>C	9	33385815	33385815	T	C	AQP7	c.575A>G	NM_001170.3	NP_001161.1:p.(Gln192Arg)	NC_000009.11:g.33385815T>C	(Likely) benign	1 lab	65a1565dd4
1:6529281 PLEKHG5 A>G	1	6529281	6529281	A	G	PLEKHG5	c.2277T>C	NM_001265593.1	NP_001252522.1:p.(Arg759=)	NC_000001.10:g.6529281A>G	(Likely) benign	1 lab	65a5f68c84
6:32012303 TNXB C>T	6	32012303	32012303	C	T	TNXB	c.11112G>A	NM_019105.8	NP_061978.6:p.(Gln3704=)	NC_000006.11:g.32012303C>T	(Likely) benign	1 lab	65a79d0c8c
14:102510637 DYNC1H1 G>A	14	102510637	102510637	G	A	DYNC1H1	c.12711G>A	NM_001376.5	NP_001367.2:p.(Lys4237=)	NC_000014.8:g.102510637G>A	(Likely) benign	1 lab	65a7b9355c
1:236912427 ACTN2 A>G	1	236912427	236912427	A	G	ACTN2	c.895A>G	NM_001278344.2	NP_001265273.1:p.(Met299Val)	NC_000001.10:g.236912427A>G	(Likely) benign	1 lab	65a80f2516
X:123109129 STAG2 C>Alt too long to show for this DUP	X	123109129	123114348	C	Alt too long to show for this DUP	STAG2	c.-163+13424_-163+18642dup	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123109130_123114348dup	VUS	1 lab	65ab57a00e
2:44051230 ABCG5 A>G	2	44051230	44051230	A	G	ABCG5	c.1146T>C	NM_022436.3	NP_071881.1:p.(Asn382=)	NC_000002.11:g.44051230A>G	(Likely) benign	1 lab	65ac70f1c0
1:3102911 PRDM16 G>A	1	3102911	3102911	G	A	PRDM16	c.260G>A	NM_022114.4	NP_071397.3:p.(Arg87Gln)	NC_000001.10:g.3102911G>A	VUS	1 lab	65ad8cfdbe
15:58840716 LIPC G>A	15	58840716	58840716	G	A	LIPC	c.996G>A	NM_000236.3	NP_000227.2:p.(Pro332=)	NC_000015.9:g.58840716G>A	(Likely) benign	1 lab	65af92f7a2
6:52878582 CILK1 G>T	6	52878582	52878582	G	T	CILK1	c.1030C>A	NM_016513.5	NP_057597.2:p.(Pro344Thr)	NC_000006.11:g.52878582G>T	VUS	1 lab	65afed6dca
16:1004652 LMF1 C>T	16	1004652	1004652	C	T	LMF1	c.208G>A	NM_022773.4	NP_073610.2:p.(Val70Met)	NC_000016.9:g.1004652C>T	VUS	1 lab	65b54e91e5
8:110099864 TRHR A>G	8	110099864	110099864	A	G	TRHR	c.123A>G	NM_003301.7	NP_003292.1:p.(Val41=)	NC_000008.10:g.110099864A>G	(Likely) benign	1 lab	65baa84ccd
8:22137088 PIWIL2 A>G	8	22137088	22137088	A	G	PIWIL2	c.189A>G	NM_001135721.3	NP_001129193.1:p.(Pro63=)	NC_000008.10:g.22137088A>G	(Likely) benign	1 lab	65bb474302
11:133158729 MISSING G>Alt too long to show for this DUP	11	133158729	133578191	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.133158731_133578191dup	VUS	1 lab	69dc159f42
16:85135838 CIBAR2 G>C	16	85135838	85135838	G	C	CIBAR2	c.633C>G	NM_198491.3	NP_940893.1:p.(Asp211Glu)	NC_000016.9:g.85135838G>C	VUS	1 lab	65bc7e036f
9:119600203 ASTN2 Ref too long to show for this DEL>C	9	119600203	119836773	Ref too long to show for this DEL	C	ASTN2	c.1276+21553_2041-17142del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119600207_119836773del	VUS	1 lab	65bf6c1c05
18:29172914 TTR G>T	18	29172914	29172914	G	T	TTR	c.125G>T	NM_000371.4	NP_000362.1:p.(Gly42Val)	NC_000018.9:g.29172914G>T	VUS	1 lab	65c0ec4887
11:119214636 C1QTNF5 G>T	11	119214636	119214636	G	T	C1QTNF5	c.-1623C>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119214636G>T	(Likely) benign	1 lab	65c2f4ab8c
10:69281628 CTNNA3 A>C	10	69281628	69281628	A	C	CTNNA3	c.551T>G	NM_013266.4	NP_037398.2:p.(Leu184Trp)	NC_000010.10:g.69281628A>C	VUS	1 lab	65c89838fc
18:3457539 TGIF1 A>G	18	3457539	3457539	A	G	TGIF1	c.462A>G	NM_173207.4	NP_775299.1:p.(Pro154=)	NC_000018.9:g.3457539A>G	(Likely) benign	1 lab	65c962a555
15:45397885 DUOX2 G>A	15	45397885	45397885	G	A	DUOX2	c.2290C>T	NM_001363711.2	NP_001350640.1:p.(Arg764Trp)	NC_000015.9:g.45397885G>A	VUS	1 lab	65cce962e9
9:21334453 KLHL9 G>T	9	21334453	21334453	G	T	KLHL9	c.406C>A	NM_018847.4	NP_061335.1:p.(Pro136Thr)	NC_000009.11:g.21334453G>T	VUS	1 lab	65cd2bd030
16:918988 LMF1 C>T	16	918988	918988	C	T	LMF1	c.1405G>A	NM_001352020.1	NP_001338949.1:p.(Val469Ile)	NC_000016.9:g.918988C>T	VUS	1 lab	65d02ff465
16:2134221 TSC2 C>T	16	2134221	2134221	C	T	TSC2	c.4006-8C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2134221C>T	(Likely) benign	1 lab	65d03b451b
8:77618404 ZFHX4 G>A	8	77618404	77618404	G	A	ZFHX4	c.2081G>A	NM_024721.5	NP_078997.4:p.(Cys694Tyr)	NC_000008.10:g.77618404G>A	VUS	1 lab	65d8000429
17:66366586 ARSG A>G	17	66366586	66366586	A	G	ARSG	c.900A>G	NM_001352903.2	NP_001339832.1:p.(Gly300=)	NC_000017.10:g.66366586A>G	(Likely) benign	1 lab	65dc5b88cf
15:48760207 FBN1 T>A	15	48760207	48760207	T	A	FBN1	c.4675A>T	NM_000138.5	NP_000129.3:p.(Lys1559Ter)	NC_000015.9:g.48760207T>A	(Likely) pathogenic	1 lab	65e0c03901
13:52509127 ATP7B G>A	13	52509127	52509127	G	A	ATP7B	c.4163C>T	NM_000053.4	NP_000044.2:p.(Ala1388Val)	NC_000013.10:g.52509127G>A	VUS	1 lab	65e27d84d1
9:107593382 ABCA1 C>T	9	107593382	107593382	C	T	ABCA1	c.1716G>A	NM_005502.4	NP_005493.2:p.(Gly572=)	NC_000009.11:g.107593382C>T	(Likely) benign	1 lab	65e429837a
4:652740 PDE6B G>C	4	652740	652740	G	C	PDE6B	c.1402-1G>C	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.652740G>C	(Likely) pathogenic	1 lab	65e723f433
2:152552142 NEB CA>C	2	152552142	152552143	CA	C	NEB	c.1623del	NM_001271208.2	NP_001258137.2:p.(Asp542IlefsTer15)	NC_000002.11:g.152552143del	(Likely) pathogenic	1 lab	65e8632e4b
12:56565677 SMARCC2 A>ACACTT	12	56565677	56565678	A	ACACTT	SMARCC2	c.1970_1971insAAGTG	NM_001330288.2	NP_001317217.1:p.(His657GlnfsTer33)	NC_000012.11:g.56565677_56565678insCACTT	(Likely) pathogenic	1 lab	65ea1b743d
6:16146911 MYLIP T>A	6	16146911	16146911	T	A	MYLIP	c.1267T>A	NM_013262.4	NP_037394.2:p.(Ser423Thr)	NC_000006.11:g.16146911T>A	(Likely) benign	1 lab	65eb74a8cf
22:46760481 CELSR1 C>G	22	46760481	46760481	C	G	CELSR1	c.8707G>C	NM_001378328.1	NP_001365257.1:p.(Glu2903Gln)	NC_000022.10:g.46760481C>G	(Likely) benign	1 lab	65ec0e01ac
2:167137119 SCN1A-AS1 G>A	2	167137119	167137119	G	A	SCN1A-AS1	n.1029+3362G>A	NR_110260.1		NC_000002.11:g.167137119G>A	(Likely) benign	1 lab	65eed37726
2:179579306 TTN G>GA	2	179579306	179579311	G	GA	TTN	c.26201-7dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179579311dup	(Likely) benign	1 lab	65f0c077c2
10:75848988 VCL G>T	10	75848988	75848988	G	T	VCL	c.1057G>T	NM_014000.3	NP_054706.1:p.(Ala353Ser)	NC_000010.10:g.75848988G>T	VUS	1 lab	65f7fd0407
3:121338811 MISSING Ref too long to show for this DEL>C	3	121338811	121374020	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.121338812_121374020del	VUS	1 lab	65fda02987
10:69366729 CTNNA3 C>T	10	69366729	69366729	C	T	CTNNA3	c.178G>A	NM_013266.4	NP_037398.2:p.(Ala60Thr)	NC_000010.10:g.69366729C>T	VUS	1 lab	65fdcb065e
19:55284916 KIR2DL1 G>C	19	55284916	55284916	G	C	KIR2DL1	c.202G>C	NM_014218.3	NP_055033.2:p.(Asp68His)	NC_000019.9:g.55284916G>C	(Likely) benign	1 lab	65fe72dc8c
18:29115230 DSG2 C>G	18	29115230	29115230	C	G	DSG2	c.1281-3C>G	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29115230C>G	VUS	1 lab	6601e26ed2
19:41854250 TGFB1 G>A	19	41854250	41854250	G	A	TGFB1	c.466C>T	NM_000660.7	NP_000651.3:p.(Arg156Cys)	NC_000019.9:g.41854250G>A	(Likely) pathogenic	1 lab	6602577ee2
3:138121006 MRAS CA>C	3	138121006	138121010	CA	C	MRAS	c.528-2del	NM_012219.4	NP_036351.3:p.?	NC_000003.11:g.138121010del	(Likely) benign	1 lab	66028fda39
2:179532438 TTN T>A	2	179532438	179532438	T	A	TTN	c.35556A>T	NM_001267550.2	NP_001254479.2:p.(Ala11852=)	NC_000002.11:g.179532438T>A	(Likely) benign	1 lab	66028fed6a
2:198513836 MISSING A>Alt too long to show for this DUP	2	198513836	198545932	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.198513840_198545932dup	VUS	1 lab	66056be58c
10:121551389 INPP5F A>G	10	121551389	121551389	A	G	INPP5F	c.453A>G	NM_014937.4	NP_055752.1:p.(Glu151=)	NC_000010.10:g.121551389A>G	(Likely) benign	1 lab	66061f73cc
2:167160735 SCN9A A>G	2	167160735	167160735	A	G	SCN9A	c.688+13T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167160735A>G	(Likely) benign	1 lab	66082de09b
2:44051064 ABCG5 C>T	2	44051064	44051064	C	T	ABCG5	c.1312G>A	NM_022436.3	NP_071881.1:p.(Ala438Thr)	NC_000002.11:g.44051064C>T	VUS	1 lab	660abf6076
1:55514158 PCSK9 G>T	1	55514158	55514158	G	T	PCSK9	c.523+1839G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55514158G>T	(Likely) benign	1 lab	660b25d226
9:107558664 ABCA1 G>A	9	107558664	107558664	G	A	ABCA1	c.5163C>T	NM_005502.4	NP_005493.2:p.(Phe1721=)	NC_000009.11:g.107558664G>A	VUS	1 lab	660de9390a
2:1739811 MISSING C>Alt too long to show for this DUP	2	1739811	1850859	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.1739812_1850859dup	VUS	1 lab	660def7619
14:21796744 RPGRIP1 G>A	14	21796744	21796744	G	A	RPGRIP1	c.3057G>A	NM_020366.4	NP_065099.3:p.(Met1019Ile)	NC_000014.8:g.21796744G>A	(Likely) benign	1 lab	6614caf624
2:179397902 TTN G>A	2	179397902	179397902	G	A	TTN	c.103440C>T	NM_001267550.2	NP_001254479.2:p.(Thr34480=)	NC_000002.11:g.179397902G>A	(Likely) benign	1 lab	66156c3d40
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	661a2ef2ba
16:83933230 MLYCD C>T	16	83933230	83933230	C	T	MLYCD	c.481C>T	NM_012213.3	NP_036345.2:p.(Leu161=)	NC_000016.9:g.83933230C>T	(Likely) benign	1 lab	661aa6a856
14:35611571 PRORP Ref too long to show for this DEL>A	14	35611571	35675681	Ref too long to show for this DEL	A	PRORP	c.1167+14755_1275+25698del	NM_014672.4	NP_055487.2:p.?	NC_000014.8:g.35611572_35675681del	VUS	1 lab	661afac415
2:44079727 ABCG8 G>T	2	44079727	44079727	G	T	ABCG8	c.695-11G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079727G>T	(Likely) benign	1 lab	661b5399ab
8:134107308 TG G>A	8	134107308	134107308	G	A	TG	c.7260G>A	NM_003235.5	NP_003226.4:p.(Pro2420=)	NC_000008.10:g.134107308G>A	(Likely) benign	1 lab	66282094c1
15:96875431 NR2F2 CCGCCCGG>C	15	96875431	96875443	CCGCCCGG	C	NR2F2	c.103_109del	NM_021005.4	NP_066285.1:p.(Gly35ArgfsTer75)	NC_000015.9:g.96875437_96875443del	(Likely) pathogenic	1 lab	6629965e11
13:23544849 MISSING Ref too long to show for this DEL>G	13	23544849	24944619	Ref too long to show for this DEL	G	MISSING				NC_000013.10:g.23544850_24944619del	(Likely) pathogenic	1 lab	662b164e65
16:70497538 FCSK G>A	16	70497538	70497538	G	A	FCSK	c.95G>A	NM_145059.3	NP_659496.2:p.(Arg32Gln)	NC_000016.9:g.70497538G>A	(Likely) pathogenic	1 lab	662c955fd8
11:70333232 SHANK2 CG>C	11	70333232	70333233	CG	C	SHANK2	c.2028del	NM_001379226.1	NP_001366155.1:p.(Ile676MetfsTer18)	NC_000011.9:g.70333233del	VUS	1 lab	6635cbdf93
15:89398569 ACAN T>A	15	89398569	89398569	T	A	ACAN	c.2753T>A	NM_001369268.1	NP_001356197.1:p.(Leu918Gln)	NC_000015.9:g.89398569T>A	(Likely) benign	1 lab	6635e95408
14:23871897 MYH6 C>T	14	23871897	23871897	C	T	MYH6	c.1002+9G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23871897C>T	(Likely) benign	1 lab	66366fdbad
1:55519174 PCSK9 G>A	1	55519174	55519174	G	A	PCSK9	c.799+710G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55519174G>A	(Likely) benign	1 lab	6638a914a3
15:45398314 DUOX2 G>A	15	45398314	45398314	G	A	DUOX2	c.2148+9C>T	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45398314G>A	(Likely) benign	1 lab	66390d9f32
9:107546901 ABCA1 A>G	9	107546901	107546901	A	G	ABCA1	c.6646-165T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546901A>G	(Likely) benign	1 lab	663a2a17b9
12:125348189 SCARB1 A>G	12	125348189	125348189	A	G	SCARB1	c.78T>C	NM_001367981.1	NP_001354910.1:p.(Ala26=)	NC_000012.11:g.125348189A>G	(Likely) benign	1 lab	663d5da7ca
10:92680747 ANKRD1 A>G	10	92680747	92680747	A	G	ANKRD1	c.27+11T>C	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680747A>G	(Likely) benign	1 lab	663ec784ea
X:39914620 BCOR C>T	X	39914620	39914620	C	T	BCOR	c.4741+1G>A	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39914620C>T	(Likely) pathogenic	1 lab	6640a06847
7:154561188 DPP6 C>T	7	154561188	154561188	C	T	DPP6	c.945C>T	NM_130797.4	NP_570629.2:p.(Tyr315=)	NC_000007.13:g.154561188C>T	(Likely) benign	1 lab	6640a65972
2:21232975 APOB C>T	2	21232975	21232975	C	T	APOB	c.6765G>A	NM_000384.3	NP_000375.3:p.(Lys2255=)	NC_000002.11:g.21232975C>T	(Likely) benign	1 lab	66423a8bbc
19:11218188 LDLR G>A	19	11218188	11218188	G	A	LDLR	c.938G>A	NM_000527.5	NP_000518.1:p.(Cys313Tyr)	NC_000019.9:g.11218188G>A	(Likely) pathogenic	1 lab	664402f509
11:47370459 MYBPC3 T>TTATATATATATATA	11	47370459	47370478	T	TTATATATATATATA	MYBPC3	c.655-381_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370465_47370478dup	(Likely) benign	1 lab	6645d43d08
12:32945152 PKP2 G>A	12	32945152	32945152	G	A	PKP2	c.*206C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32945152G>A	(Likely) benign	1 lab	6649907163
14:23871734 MYH6 G>A	14	23871734	23871734	G	A	MYH6	c.1080C>T	NM_002471.4	NP_002462.2:p.(Tyr360=)	NC_000014.8:g.23871734G>A	(Likely) benign	1 lab	664c4072e8
2:27290393 AGBL5 G>A	2	27290393	27290393	G	A	AGBL5	c.2121G>A	NM_021831.6	NP_068603.4:p.(Gln707=)	NC_000002.11:g.27290393G>A	(Likely) benign	1 lab	664fcb51ed
2:241710594 KIF1A C>T	2	241710594	241710594	C	T	KIF1A	c.1210G>A	NM_001379631.1	NP_001366560.1:p.(Val404Met)	NC_000002.11:g.241710594C>T	(Likely) benign	1 lab	66525d5655
15:67479701 SMAD3 A>G	15	67479701	67479701	A	G	SMAD3	c.1010-2A>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67479701A>G	(Likely) pathogenic	1 lab	6654b181e8
16:67974219 LCAT C>T	16	67974219	67974219	C	T	LCAT	c.911G>A	NM_000229.2	NP_000220.1:p.(Arg304His)	NC_000016.9:g.67974219C>T	VUS	1 lab	6654ce420b
2:74598750 DCTN1 C>A	2	74598750	74598750	C	A	DCTN1	c.559G>T	NM_004082.5	NP_004073.2:p.(Ala187Ser)	NC_000002.11:g.74598750C>A	VUS	1 lab	6655aab6d4
10:90983519 LIPA G>A	10	90983519	90983519	G	A	LIPA	c.744C>T	NM_000235.4	NP_000226.2:p.(Cys248=)	NC_000010.10:g.90983519G>A	(Likely) benign	1 lab	6656c05d95
2:212488632 ERBB4 T>C	2	212488632	212488632	T	C	ERBB4	c.2202+15A>G	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212488632T>C	(Likely) benign	1 lab	665a1a42ca
13:32899237 BRCA2 A>G	13	32899237	32899237	A	G	BRCA2	c.341A>G	NM_000059.4	NP_000050.3:p.(His114Arg)	NC_000013.10:g.32899237A>G	(Likely) benign	1 lab	665dc83c07
12:125270770 SCARB1 G>A	12	125270770	125270770	G	A	SCARB1	c.1534C>T	NM_001367981.1	NP_001354910.1:p.(Arg512Trp)	NC_000012.11:g.125270770G>A	VUS	1 lab	666245bad5
2:25047286 ADCY3 G>A	2	25047286	25047286	G	A	ADCY3	c.2700C>T	NM_001320613.2	NP_001307542.1:p.(His900=)	NC_000002.11:g.25047286G>A	(Likely) benign	1 lab	66630e9e72
1:237656310 RYR2 C>G	1	237656310	237656310	C	G	RYR2	c.1884C>G	NM_001035.3	NP_001026.2:p.(Asn628Lys)	NC_000001.10:g.237656310C>G	VUS	1 lab	6666e4f795
2:21224744 APOB G>A	2	21224744	21224744	G	A	APOB	c.13550C>T	NM_000384.3	NP_000375.3:p.(Ser4517Phe)	NC_000002.11:g.21224744G>A	VUS	1 lab	666a704119
19:50321691 MED25 C>T	19	50321691	50321691	C	T	MED25	c.93C>T	NM_030973.4	NP_112235.2:p.(Tyr31=)	NC_000019.9:g.50321691C>T	(Likely) benign	1 lab	666b83539f
3:47158212 SETD2 C>T	3	47158212	47158212	C	T	SETD2	c.4487G>A	NM_014159.7	NP_054878.5:p.(Arg1496Gln)	NC_000003.11:g.47158212C>T	VUS	1 lab	66718d913d
8:19805750 LPL G>C	8	19805750	19805750	G	C	LPL	c.148G>C	NM_000237.3	NP_000228.1:p.(Ala50Pro)	NC_000008.10:g.19805750G>C	VUS	1 lab	6673c88e54
3:1444067 MISSING Ref too long to show for this DEL>G	3	1444067	1474779	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.1444068_1474779del	(Likely) pathogenic	1 lab	6675975276
21:44487891 CBS G>A	21	44487891	44487891	G	A	CBS	c.316+728C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44487891G>A	(Likely) benign	1 lab	6675e295ec
10:219859 ZMYND11 Ref too long to show for this DEL>G	10	219859	266201	Ref too long to show for this DEL	G	ZMYND11	c.-19-6073_277-934del	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.219861_266201del	(Likely) pathogenic	1 lab	66775fd95c
1:236918327 ACTN2 C>T	1	236918327	236918327	C	T	ACTN2	c.1359C>T	NM_001278344.2	NP_001265273.1:p.(Ala453=)	NC_000001.10:g.236918327C>T	(Likely) benign	1 lab	6677c0bb48
6:56498987 DST T>C	6	56498987	56498987	T	C	DST	c.3465A>G	NM_001144769.5	NP_001138241.1:p.(Val1155=)	NC_000006.11:g.56498987T>C	(Likely) benign	1 lab	66784287ff
11:66335551 CTSF CG>C	11	66335551	66335552	CG	C	CTSF	c.215del	NM_003793.4	NP_003784.2:p.(Ala72GlyfsTer76)	NC_000011.9:g.66335552del	(Likely) pathogenic	1 lab	667d44fe50
12:50502917 GPD1 C>CA	12	50502917	50502941	C	CA	GPD1	c.954-265dup	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502941dup	(Likely) benign	1 lab	66827ea23d
19:11241877 LDLR G>A	19	11241877	11241877	G	A	LDLR	c.2548-80G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241877G>A	(Likely) benign	1 lab	6683f200fd
5:175347510 MISSING Ref too long to show for this DEL>T	5	175347510	177429138	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.175347511_177429138del	(Likely) pathogenic	1 lab	66846a8f12
16:67974166 LCAT G>A	16	67974166	67974166	G	A	LCAT	c.964C>T	NM_000229.2	NP_000220.1:p.(Arg322Cys)	NC_000016.9:g.67974166G>A	(Likely) pathogenic	1 lab	66872bd203
2:206610502 NRP2 T>G	2	206610502	206610502	T	G	NRP2	c.1674T>G	NM_201266.2	NP_957718.1:p.(Pro558=)	NC_000002.11:g.206610502T>G	(Likely) benign	1 lab	6687a32f8a
1:8420710 RERE C>A	1	8420710	8420710	C	A	RERE	c.2857G>T	NM_012102.4	NP_036234.3:p.(Gly953Trp)	NC_000001.10:g.8420710C>A	VUS	1 lab	668956f440
14:81554355 TSHR C>T	14	81554355	81554355	C	T	TSHR	c.375C>T	NM_000369.5	NP_000360.2:p.(Leu125=)	NC_000014.8:g.81554355C>T	(Likely) benign	1 lab	668b28ea2b
7:50534952 DDC C>T	7	50534952	50534952	C	T	DDC	c.1202G>A	NM_001082971.2	NP_001076440.2:p.(Cys401Tyr)	NC_000007.13:g.50534952C>T	VUS	1 lab	668d1e3f94
7:128488256 FLNC C>T	7	128488256	128488256	C	T	FLNC	c.4580+134C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488256C>T	(Likely) benign	1 lab	668e10ac69
5:151202288 GLRA1 C>A	5	151202288	151202288	C	A	GLRA1	c.1320G>T	NM_001146040.2	NP_001139512.1:p.(Met440Ile)	NC_000005.9:g.151202288C>A	(Likely) benign	1 lab	669317e043
10:55582651 PCDH15 G>GTGTT	10	55582651	55582656	G	GTGTT	PCDH15	c.4852_4855dup	NM_001142763.2	NP_001136235.1:p.(Thr1619LysfsTer11)	NC_000010.10:g.55582653_55582656dup	(Likely) benign	1 lab	669401c768
16:88499401 ZNF469 G>A	16	88499401	88499401	G	A	ZNF469	c.5523G>A	NM_001367624.2	NP_001354553.1:p.(Gly1841=)	NC_000016.9:g.88499401G>A	(Likely) benign	1 lab	6694d99227
5:22415812 CDH12 Ref too long to show for this DEL>A	5	22415812	22505420	Ref too long to show for this DEL	A	CDH12	c.-469_-427-10353del	NM_004061.5	NP_004052.2:p.?	NC_000005.9:g.22415813_22505420del	(Likely) pathogenic	1 lab	669c098a78
8:133961157 TG A>G	8	133961157	133961157	A	G	TG	c.5370A>G	NM_003235.5	NP_003226.4:p.(Ile1790Met)	NC_000008.10:g.133961157A>G	(Likely) benign	1 lab	669c439156
2:179659117 TTN C>T	2	179659117	179659117	C	T	TTN	c.1398+9G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179659117C>T	(Likely) benign	1 lab	669d2dd1c1
13:95157061 DCT T>C	13	95157061	95157061	T	C	DCT	c.106+104A>G	NM_001322186.2	NP_001309115.1:p.?	NC_000013.10:g.95157061T>C	(Likely) benign	1 lab	66a0716bac
12:125348137 SCARB1 C>T	12	125348137	125348137	C	T	SCARB1	c.126+4G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125348137C>T	(Likely) benign	1 lab	66a07b5025
9:107558697 ABCA1 G>A	9	107558697	107558697	G	A	ABCA1	c.5130C>T	NM_005502.4	NP_005493.2:p.(Tyr1710=)	NC_000009.11:g.107558697G>A	(Likely) benign	1 lab	66a4280893
11:75905605 WNT11 G>A	11	75905605	75905605	G	A	WNT11	c.597+6C>T	NM_004626.3	NP_004617.2:p.?	NC_000011.9:g.75905605G>A	(Likely) benign	1 lab	66ab9f1b40
1:22446827 WNT4 G>A	1	22446827	22446827	G	A	WNT4	c.772C>T	NM_030761.5	NP_110388.2:p.(Arg258Cys)	NC_000001.10:g.22446827G>A	VUS	1 lab	66ad4349ef
2:21229934 APOB G>A	2	21229934	21229934	G	A	APOB	c.9806C>T	NM_000384.3	NP_000375.3:p.(Ala3269Val)	NC_000002.11:g.21229934G>A	(Likely) benign	1 lab	66ad4f5d54
12:88449415 CEP290 CA>C	12	88449415	88449417	CA	C	CEP290	c.6897del	NM_025114.4	NP_079390.3:p.(Val2300Ter)	NC_000012.11:g.88449417del	(Likely) pathogenic	1 lab	66b1037bb1
3:38639580 SCN5A G>A	3	38639580	38639580	G	A	SCN5A	c.2024-122C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38639580G>A	(Likely) benign	1 lab	66b436a463
X:153296129 MECP2 G>A	X	153296129	153296129	G	A	MECP2	c.1150C>T	NM_004992.4	NP_004983.1:p.(Pro384Ser)	NC_000023.10:g.153296129G>A	(Likely) benign	1 lab	66b4eb3120
12:125270778 SCARB1 C>T	12	125270778	125270778	C	T	SCARB1	c.1526G>A	NM_001367981.1	NP_001354910.1:p.(Arg509His)	NC_000012.11:g.125270778C>T	VUS	1 lab	66bc30a73f
15:48760008 FBN1 C>T	15	48760008	48760008	C	T	FBN1	c.4747+127G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760008C>T	(Likely) benign	1 lab	66c2491ae3
4:121732624 PRDM5 C>A	4	121732624	121732624	C	A	PRDM5	c.866-20G>T	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121732624C>A	(Likely) benign	1 lab	66c261b7ff
1:55509900 PCSK9 C>T	1	55509900	55509900	C	T	PCSK9	c.399+193C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509900C>T	(Likely) benign	1 lab	66c4e31988
1:156096624 LMNA G>A	1	156096624	156096624	G	A	LMNA	c.31G>A	NM_001282624.2	NP_001269553.1:p.(Glu11Lys)	NC_000001.10:g.156096624G>A	(Likely) benign	1 lab	66c50a419d
7:74108252 GTF2I Ref too long to show for this DEL>G	7	74108252	74138683	Ref too long to show for this DEL	G	GTF2I	c.238+2811_944-4441del	NM_032999.4	NP_127492.1:p.?	NC_000007.13:g.74108254_74138683del	(Likely) pathogenic	1 lab	66c50df029
4:111539846 PITX2 T>C	4	111539846	111539846	T	C	PITX2	c.391-2A>G	NM_001204397.1	NP_001191326.1:p.?	NC_000004.11:g.111539846T>C	(Likely) pathogenic	1 lab	66c51b0372
18:29102102 DSG2 T>C	18	29102102	29102102	T	C	DSG2	c.580T>C	NM_001943.5	NP_001934.2:p.(Ser194Pro)	NC_000018.9:g.29102102T>C	VUS	1 lab	66c702315d
17:1665424 SERPINF1 G>A	17	1665424	1665424	G	A	SERPINF1	c.-9+17G>A	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1665424G>A	(Likely) benign	1 lab	66c778b4bb
2:44101126 ABCG8 G>A	2	44101126	44101126	G	A	ABCG8	c.1411+1G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101126G>A	(Likely) pathogenic	1 lab	66d5d55b36
3:9796411 OGG1 A>T	3	9796411	9796411	A	T	OGG1	c.589A>T	NM_016821.3	NP_058214.1:p.(Arg197Trp)	NC_000003.11:g.9796411A>T	VUS	1 lab	66de37ad85
1:161332104 SDHC TTG>T	1	161332104	161332106	TTG	T	SDHC	c.406-14_406-13del	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332105_161332106del	(Likely) benign	1 lab	66e04d49b0
1:115256530 NRAS G>T	1	115256530	115256530	G	T	NRAS	c.181C>A	NM_002524.5	NP_002515.1:p.(Gln61Lys)	NC_000001.10:g.115256530G>T	(Likely) pathogenic	1 lab	66e0744de8
18:10704638 PIEZO2 G>A	18	10704638	10704638	G	A	PIEZO2	c.5673C>T	NM_022068.4	NP_071351.2:p.(Asp1891=)	NC_000018.9:g.10704638G>A	(Likely) benign	1 lab	66e1adea70
5:90449107 ADGRV1 C>G	5	90449107	90449107	C	G	ADGRV1	c.18694C>G	NM_032119.4	NP_115495.3:p.(Pro6232Ala)	NC_000005.9:g.90449107C>G	VUS	1 lab	66e1fc52f1
20:54824190 MC3R G>A	20	54824190	54824190	G	A	MC3R	c.291G>A	NM_019888.3	NP_063941.3:p.(Met97Ile)	NC_000020.10:g.54824190G>A	(Likely) benign	1 lab	66e2268f5a
18:25589687 CDH2 C>A	18	25589687	25589687	C	A	CDH2	c.696G>T	NM_001792.5	NP_001783.2:p.(Arg232=)	NC_000018.9:g.25589687C>A	(Likely) benign	1 lab	66e603db1b
1:11303153 MTOR C>A	1	11303153	11303153	C	A	MTOR	c.1412+18G>T	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11303153C>A	(Likely) benign	1 lab	66e64df63d
10:148205 MISSING Ref too long to show for this DEL>G	10	148205	1333163	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.148206_1333163del	(Likely) pathogenic	1 lab	66e6c7c7ad
8:7195890 USP17L4 C>A	8	7195890	7195890	C	A	USP17L4	c.1254C>A	NM_001256874.1	NP_001243803.1:p.(Pro418=)	NC_000008.10:g.7195890C>A	(Likely) benign	1 lab	66ec35c57d
20:42744525 JPH2 G>A	20	42744525	42744525	G	A	JPH2	c.1790C>T	NM_020433.5	NP_065166.2:p.(Ser597Leu)	NC_000020.10:g.42744525G>A	VUS	1 lab	66eecdcb69
2:179654827 TTN T>C	2	179654827	179654827	T	C	TTN	c.1816A>G	NM_001267550.2	NP_001254479.2:p.(Arg606Gly)	NC_000002.11:g.179654827T>C	VUS	1 lab	66f07a812f
9:119461808 TRIM32 G>A	9	119461808	119461808	G	A	TRIM32	c.1787G>A	NM_012210.4	NP_036342.2:p.(Arg596His)	NC_000009.11:g.119461808G>A	VUS	1 lab	66f51071b5
18:45377860 SMAD2 TG>T	18	45377860	45377866	TG	T	SMAD2	c.731-163del	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45377866del	(Likely) benign	1 lab	66f5b2b7c6
15:28090138 OCA2 T>G	15	28090138	28090138	T	G	OCA2	c.2399A>C	NM_000275.3	NP_000266.2:p.(His800Pro)	NC_000015.9:g.28090138T>G	VUS	1 lab	66f9833fe4
2:179417198 TTN C>T	2	179417198	179417198	C	T	TTN	c.90429G>A	NM_001267550.2	NP_001254479.2:p.(Val30143=)	NC_000002.11:g.179417198C>T	(Likely) benign	1 lab	66ffb71a89
9:101701057 MISSING Ref too long to show for this DEL>C	9	101701057	101733742	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.101701058_101733742del	VUS	1 lab	6707c5581d
9:107593998 ABCA1 T>A	9	107593998	107593998	T	A	ABCA1	c.1620A>T	NM_005502.4	NP_005493.2:p.(Gly540=)	NC_000009.11:g.107593998T>A	(Likely) benign	1 lab	67083dd113
2:21256329 APOB G>A	2	21256329	21256329	G	A	APOB	c.966C>T	NM_000384.3	NP_000375.3:p.(Ala322=)	NC_000002.11:g.21256329G>A	(Likely) benign	1 lab	670c18f5eb
1:236912502 ACTN2 A>T	1	236912502	236912502	A	T	ACTN2	c.970A>T	NM_001278344.2	NP_001265273.1:p.(Met324Leu)	NC_000001.10:g.236912502A>T	VUS	1 lab	67105f3379
16:57017318 CETP C>T	16	57017318	57017318	C	T	CETP	c.1402C>T	NM_000078.3	NP_000069.2:p.(Arg468Ter)	NC_000016.9:g.57017318C>T	(Likely) pathogenic	1 lab	6729c40741
21:27441794 APP Ref too long to show for this DEL>A	21	27441794	27459675	Ref too long to show for this DEL	A	APP	c.355+2585_356-16131del	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27441796_27459675del	VUS	1 lab	6713b5012d
10:126100525 OAT A>ATTAATT	10	126100525	126100532	A	ATTAATT	OAT	c.199+11_199+16dup	NM_001322966.2	NP_001309895.1:p.?	NC_000010.10:g.126100527_126100532dup	(Likely) benign	1 lab	67184bd19d
1:109680019 KIAA1324 Ref too long to show for this DEL>T	1	109680019	109749844	Ref too long to show for this DEL	T	KIAA1324				NC_000001.10:g.109680020_109749844del	VUS	1 lab	671aa41950
12:21375243 SLCO1B1 A>T	12	21375243	21375243	A	T	SLCO1B1	c.1692A>T	NM_006446.5	NP_006437.3:p.(Gln564His)	NC_000012.11:g.21375243A>T	(Likely) benign	1 lab	671f73dd27
14:88416225 GALC G>A	14	88416225	88416225	G	A	GALC	c.1302C>T	NM_000153.4	NP_000144.2:p.(Ser434=)	NC_000014.8:g.88416225G>A	(Likely) benign	1 lab	671f84fd01
7:91726140 AKAP9 A>G	7	91726140	91726140	A	G	AKAP9	c.9867A>G	NM_005751.5	NP_005742.4:p.(Ser3289=)	NC_000007.13:g.91726140A>G	(Likely) benign	1 lab	671fc36f6a
8:9881410 MISSING Ref too long to show for this DEL>T	8	9881410	9919699	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.9881411_9919699del	VUS	1 lab	67226ae5c3
2:207012576 NDUFS1 CAT>C	2	207012576	207012581	CAT	C	NDUFS1	c.339-20_339-19del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207012580_207012581del	(Likely) benign	1 lab	6723a9fc76
10:73558304 CDH23 AG>A	10	73558304	73558307	AG	A	CDH23	c.7026del	NM_022124.6	NP_071407.4:p.(Tyr2343MetfsTer30)	NC_000010.10:g.73558307del	(Likely) pathogenic	1 lab	67244029ac
19:11222124 LDLR C>G	19	11222124	11222124	C	G	LDLR	c.1061-66C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222124C>G	(Likely) benign	1 lab	6727885069
2:21234578 APOB A>G	2	21234578	21234578	A	G	APOB	c.5162T>C	NM_000384.3	NP_000375.3:p.(Val1721Ala)	NC_000002.11:g.21234578A>G	VUS	1 lab	672aef0b56
19:17746947 UNC13A A>G	19	17746947	17746947	A	G	UNC13A	c.3101T>C	NM_001080421.3	NP_001073890.2:p.(Leu1034Pro)	NC_000019.9:g.17746947A>G	(Likely) benign	1 lab	672b2fc4cf
6:16142997 MYLIP T>G	6	16142997	16142997	T	G	MYLIP	c.465-254T>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16142997T>G	(Likely) benign	1 lab	67303a4a09
16:67973962 LCAT G>A	16	67973962	67973962	G	A	LCAT	c.1168C>T	NM_000229.2	NP_000220.1:p.(Pro390Ser)	NC_000016.9:g.67973962G>A	(Likely) pathogenic	1 lab	673346aa88
16:81348872 GAN A>G	16	81348872	81348872	A	G	GAN	c.154A>G	NM_022041.4	NP_071324.1:p.(Ser52Gly)	NC_000016.9:g.81348872A>G	(Likely) pathogenic	1 lab	6736e08d5d
19:18583696 ELL T>TAAA	19	18583696	18583719	T	TAAA	ELL	c.136-7_136-5dup	NM_006532.4	NP_006523.1:p.?	NC_000019.9:g.18583717_18583719dup	(Likely) benign	1 lab	6739d44549
22:26936928 TPST2 G>C	22	26936928	26936928	G	C	TPST2	c.669C>G	NM_001008566.3	NP_001008566.1:p.(Ala223=)	NC_000022.10:g.26936928G>C	(Likely) benign	1 lab	673c921a07
1:109608842 TAF13 A>T	1	109608842	109608842	A	T	TAF13	c.119T>A	NM_005645.4	NP_005636.1:p.(Met40Lys)	NC_000001.10:g.109608842A>T	(Likely) pathogenic	1 lab	674050fadc
15:34610964 SLC12A6 G>C	15	34610964	34610964	G	C	SLC12A6	c.-85C>G	NM_005135.2	NP_005126.1:p.?	NC_000015.9:g.34610964G>C	(Likely) benign	1 lab	67407b649c
19:11223663 LDLR C>CT	19	11223663	11223685	C	CT	LDLR	c.1187-269dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223685dup	(Likely) benign	1 lab	67409578fc
17:75484700 SEPTIN9 A>G	17	75484700	75484700	A	G	SEPTIN9	c.1071-109A>G	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484700A>G	(Likely) benign	1 lab	6749f64f17
2:179414552 TTN T>G	2	179414552	179414552	T	G	TTN	c.91897A>C	NM_001267550.2	NP_001254479.2:p.(Thr30633Pro)	NC_000002.11:g.179414552T>G	VUS	1 lab	676844b491
7:29151617 CPVL Ref too long to show for this DEL>T	7	29151617	29180543	Ref too long to show for this DEL	T	CPVL	c.-11+5502_288+702del	NM_031311.5	NP_112601.3:p.?	NC_000007.13:g.29151618_29180543del	VUS	1 lab	675288cc23
2:179307974 PRKRA TAA>T	2	179307974	179307976	TAA	T	PRKRA	c.481+18_481+19del	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179307975_179307976del	(Likely) benign	1 lab	6753f02672
11:47354781 MYBPC3 C>G	11	47354781	47354781	C	G	MYBPC3	c.3294G>C	NM_000256.3	NP_000247.2:p.(Trp1098Cys)	NC_000011.9:g.47354781C>G	VUS	1 lab	6754855bd7
19:45411882 APOE G>A	19	45411882	45411882	G	A	APOE	c.407G>A	NM_001302688.2	NP_001289617.1:p.(Arg136Gln)	NC_000019.9:g.45411882G>A	VUS	1 lab	6754e5004f
8:144297289 GPIHBP1 G>C	8	144297289	144297289	G	C	GPIHBP1	c.451G>C	NM_178172.6	NP_835466.2:p.(Gly151Arg)	NC_000008.10:g.144297289G>C	VUS	1 lab	6759877780
11:9643326 MISSING T>Alt too long to show for this DUP	11	9643326	9844858	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.9643327_9844858dup	VUS	1 lab	6759bf65ee
1:3347673 PRDM16 G>T	1	3347673	3347673	G	T	PRDM16	c.3521+1G>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3347673G>T	VUS	1 lab	675b685a34
1:1375117 VWA1 CGCCCCGT>C	1	1375117	1375130	CGCCCCGT	C	VWA1	c.1295_1301del	NM_022834.5	NP_073745.2:p.(Val432AlafsTer105)	NC_000001.10:g.1375124_1375130del	VUS	1 lab	675e37cce2
12:125298294 SCARB1 T>C	12	125298294	125298294	T	C	SCARB1	c.630+454A>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125298294T>C	(Likely) benign	1 lab	67630ce087
1:237947320 RYR2 C>T	1	237947320	237947320	C	T	RYR2	c.12308C>T	NM_001035.3	NP_001026.2:p.(Thr4103Ile)	NC_000001.10:g.237947320C>T	(Likely) pathogenic	1 lab	679f957332
10:18439784 CACNB2 C>CTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTT	CACNB2	c.37-14_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439798_18439809dup	(Likely) benign	1 lab	6764614930
6:157099991 ARID1B G>T	6	157099991	157099991	G	T	ARID1B	c.1177G>T	NM_001371656.1	NP_001358585.1:p.(Gly393Cys)	NC_000006.11:g.157099991G>T	VUS	1 lab	6765c9a85f
15:85383943 ALPK3 T>A	15	85383943	85383943	T	A	ALPK3	c.1433T>A	NM_020778.5	NP_065829.4:p.(Phe478Tyr)	NC_000015.9:g.85383943T>A	VUS	1 lab	676889d30d
1:25880396 LDLRAP1 A>G	1	25880396	25880396	A	G	LDLRAP1	c.89-17A>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880396A>G	(Likely) benign	1 lab	676afbd175
3:38618208 SCN5A T>C	3	38618208	38618208	T	C	SCN5A	c.3455A>G	NM_198056.3	NP_932173.1:p.(Glu1152Gly)	NC_000003.11:g.38618208T>C	VUS	1 lab	676d1a10dd
5:127595685 FBN2 T>C	5	127595685	127595685	T	C	FBN2	c.8365-164A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127595685T>C	(Likely) benign	1 lab	6774c831cf
2:21256356 APOB G>T	2	21256356	21256356	G	T	APOB	c.939C>A	NM_000384.3	NP_000375.3:p.(Thr313=)	NC_000002.11:g.21256356G>T	(Likely) benign	1 lab	677770ac8e
18:21124910 NPC1 C>CG	18	21124910	21124911	C	CG	NPC1	c.1947+13_1947+14insC	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124910_21124911insG	(Likely) benign	1 lab	677816ae1d
2:63664607 WDPCP T>C	2	63664607	63664607	T	C	WDPCP	c.581A>G	NM_015910.7	NP_056994.3:p.(Glu194Gly)	NC_000002.11:g.63664607T>C	(Likely) benign	1 lab	677a2e3fdf
16:929561 LMF1 C>T	16	929561	929561	C	T	LMF1	c.498+9G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929561C>T	(Likely) benign	1 lab	677d274a93
4:156838739 MISSING G>Alt too long to show for this DUP	4	156838739	156879206	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.156838740_156879206dup	VUS	1 lab	677eed1255
2:179480366 TTN A>T	2	179480366	179480366	A	T	TTN	c.48460+2T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480366A>T	(Likely) pathogenic	1 lab	679ebff9e0
7:128498691 FLNC A>G	7	128498691	128498691	A	G	FLNC	c.*114A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498691A>G	(Likely) benign	1 lab	6783d3ab7b
5:178409995 GRM6 G>A	5	178409995	178409995	G	A	GRM6	c.2352C>T	NM_000843.4	NP_000834.2:p.(Pro784=)	NC_000005.9:g.178409995G>A	(Likely) benign	1 lab	67892fdd64
16:67974327 LCAT C>T	16	67974327	67974327	C	T	LCAT	c.803G>A	NM_000229.2	NP_000220.1:p.(Arg268His)	NC_000016.9:g.67974327C>T	(Likely) pathogenic	1 lab	678b058a2d
10:81914913 ANXA11 Ref too long to show for this DEL>C	10	81914913	81947862	Ref too long to show for this DEL	C	ANXA11	c.-57-11951_*695del	NM_145868.2	NP_665875.1:p.0?	NC_000010.10:g.81914914_81947862del	VUS	1 lab	678e7c97d8
12:50501921 GPD1 T>C	12	50501921	50501921	T	C	GPD1	c.953+8T>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501921T>C	(Likely) benign	1 lab	678ef2f412
2:44100610 ABCG8 C>G	2	44100610	44100610	C	G	ABCG8	c.1212-316C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100610C>G	VUS	1 lab	678f3d0bc2
8:10467601 RP1L1 A>G	8	10467601	10467601	A	G	RP1L1	c.4007T>C	NM_178857.6	NP_849188.4:p.(Val1336Ala)	NC_000008.10:g.10467601A>G	(Likely) benign	1 lab	67934ca053
2:166231260 SCN2A C>G	2	166231260	166231260	C	G	SCN2A	c.4038C>G	NM_021007.3	NP_066287.2:p.(Ile1346Met)	NC_000002.11:g.166231260C>G	VUS	1 lab	6794b5aa57
10:27687463 PTCHD3 A>G	10	27687463	27687463	A	G	PTCHD3	c.2064T>C	NM_001034842.4	NP_001030014.2:p.(Tyr688=)	NC_000010.10:g.27687463A>G	(Likely) benign	1 lab	679d74b24f
17:36486995 GPR179 G>A	17	36486995	36486995	G	A	GPR179	c.2457C>T	NM_001004334.4	NP_001004334.3:p.(Ser819=)	NC_000017.10:g.36486995G>A	(Likely) benign	1 lab	67a00da70e
17:56283467 MKS1 C>G	17	56283467	56283467	C	G	MKS1	c.1653G>C	NM_017777.4	NP_060247.2:p.(Val551=)	NC_000017.10:g.56283467C>G	(Likely) benign	1 lab	67a0c9370a
5:138409754 MISSING T>Alt too long to show for this DUP	5	138409754	138579342	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.138409758_138579342dup	VUS	1 lab	67a375f3f3
19:45412166 APOE C>T	19	45412166	45412166	C	T	APOE	c.691C>T	NM_001302688.2	NP_001289617.1:p.(Gln231Ter)	NC_000019.9:g.45412166C>T	(Likely) pathogenic	1 lab	67a4b11ca1
6:75893815 COL12A1 T>A	6	75893815	75893815	T	A	COL12A1	c.1043A>T	NM_004370.6	NP_004361.3:p.(Lys348Ile)	NC_000006.11:g.75893815T>A	VUS	1 lab	67a508b135
19:45411948 APOE G>A	19	45411948	45411948	G	A	APOE	c.473G>A	NM_001302688.2	NP_001289617.1:p.(Arg158His)	NC_000019.9:g.45411948G>A	VUS	1 lab	67a6f271df
2:212495336 ERBB4 G>A	2	212495336	212495336	G	A	ERBB4	c.1947-17C>T	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212495336G>A	(Likely) benign	1 lab	67ad1e8ccd
5:112179008 APC A>G	5	112179008	112179008	A	G	APC	c.7717A>G	NM_000038.6	NP_000029.2:p.(Ile2573Val)	NC_000005.9:g.112179008A>G	(Likely) benign	1 lab	67af543e46
X:48547307 WAS C>T	X	48547307	48547307	C	T	WAS	c.1190C>T	NM_000377.3	NP_000368.1:p.(Pro397Leu)	NC_000023.10:g.48547307C>T	(Likely) benign	1 lab	67afcf8ee8
15:77096986 SCAPER A>C	15	77096986	77096986	A	C	SCAPER	c.394-12T>G	NM_001353009.2	NP_001339938.1:p.?	NC_000015.9:g.77096986A>C	(Likely) benign	1 lab	67aff723f3
12:2602410 CACNA1C G>A	12	2602410	2602410	G	A	CACNA1C	c.971G>A	NM_199460.4	NP_955630.3:p.(Arg324Gln)	NC_000012.11:g.2602410G>A	VUS	1 lab	67b01f4b46
2:44065755 ABCG5 G>A	2	44065755	44065755	G	A	ABCG5	c.64C>T	NM_022436.3	NP_071881.1:p.(Gln22Ter)	NC_000002.11:g.44065755G>A	(Likely) pathogenic	1 lab	67b0e66eb0
9:79874981 VPS13A AT>A	9	79874981	79874986	AT	A	VPS13A	c.2289-16del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79874986del	(Likely) benign	1 lab	67b0f19573
2:179465597 TTN A>G	2	179465597	179465597	A	G	TTN	c.56034T>C	NM_001267550.2	NP_001254479.2:p.(Thr18678=)	NC_000002.11:g.179465597A>G	(Likely) benign	1 lab	67b43ddb42
6:56489412 DST C>T	6	56489412	56489412	C	T	DST	c.4746G>A	NM_001144769.5	NP_001138241.1:p.(Arg1582=)	NC_000006.11:g.56489412C>T	(Likely) benign	1 lab	67b690a6ad
9:107578048 ABCA1 C>G	9	107578048	107578048	C	G	ABCA1	c.3738+376G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578048C>G	(Likely) benign	1 lab	67b6ebfe9e
11:116661212 APOA5 G>A	11	116661212	116661212	G	A	APOA5	c.733C>T	NM_052968.5	NP_443200.2:p.(Arg245Cys)	NC_000011.9:g.116661212G>A	(Likely) pathogenic	1 lab	67b85e0ece
8:144999642 PLEC A>C	8	144999642	144999642	A	C	PLEC	c.4866T>G	NM_201380.4	NP_958782.1:p.(Ala1622=)	NC_000008.10:g.144999642A>C	(Likely) benign	1 lab	67b88cfdbd
10:92678740 ANKRD1 AATAAATAAATATATATAT>A	10	92678740	92678761	AATAAATAAATATATATAT	A	ANKRD1	c.346-29_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678761del	(Likely) benign	1 lab	67be3ac775
2:21228020 APOB T>C	2	21228020	21228020	T	C	APOB	c.11720A>G	NM_000384.3	NP_000375.3:p.(Asp3907Gly)	NC_000002.11:g.21228020T>C	(Likely) benign	1 lab	67beb85657
15:48712995 FBN1 C>T	15	48712995	48712995	C	T	FBN1	c.7708G>A	NM_000138.5	NP_000129.3:p.(Glu2570Lys)	NC_000015.9:g.48712995C>T	(Likely) pathogenic	1 lab	67c3d81df4
12:21918713 KCNJ8 C>A	12	21918713	21918713	C	A	KCNJ8	c.1219G>T	NM_004982.4	NP_004973.1:p.(Val407Leu)	NC_000012.11:g.21918713C>A	VUS	1 lab	67c4360bc2
21:45751706 CFAP410 C>T	21	45751706	45751706	C	T	CFAP410	c.545+20G>A	NM_001271441.2	NP_001258370.1:p.?	NC_000021.8:g.45751706C>T	(Likely) benign	1 lab	67c527faaf
9:139094845 LHX3 G>C	9	139094845	139094845	G	C	LHX3	c.41C>G	NM_014564.5	NP_055379.1:p.(Ala14Gly)	NC_000009.11:g.139094845G>C	(Likely) benign	1 lab	67c5a2ca39
9:2718192 KCNV2 C>T	9	2718192	2718192	C	T	KCNV2	c.453C>T	NM_133497.4	NP_598004.1:p.(Phe151=)	NC_000009.11:g.2718192C>T	(Likely) benign	1 lab	67c641e473
2:179650814 TTN G>C	2	179650814	179650814	G	C	TTN	c.2131C>G	NM_001267550.2	NP_001254479.2:p.(Gln711Glu)	NC_000002.11:g.179650814G>C	VUS	1 lab	67c8554fb0
3:14180780 TMEM43 G>A	3	14180780	14180780	G	A	TMEM43	c.983G>A	NM_024334.3	NP_077310.1:p.(Arg328Gln)	NC_000003.11:g.14180780G>A	VUS	1 lab	67cbdddfa9
19:17986889 SLC5A5 G>A	19	17986889	17986889	G	A	SLC5A5	c.672G>A	NM_000453.3	NP_000444.1:p.(Gln224=)	NC_000019.9:g.17986889G>A	(Likely) benign	1 lab	67cbf2829a
3:14589429 MISSING G>Alt too long to show for this DUP	3	14589429	14756828	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.14589432_14756828dup	VUS	1 lab	67ccacbc2e
12:133235886 POLE C>T	12	133235886	133235886	C	T	POLE	c.3270G>A	NM_006231.4	NP_006222.2:p.(Thr1090=)	NC_000012.11:g.133235886C>T	(Likely) benign	1 lab	67d96772bb
19:49703540 TRPM4 A>T	19	49703540	49703540	A	T	TRPM4	c.2646-17A>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49703540A>T	(Likely) benign	1 lab	67ded75faf
X:134305210 MISSING Ref too long to show for this DEL>T	X	134305210	134331979	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.134305213_134331979del	VUS	1 lab	67e295ad22
7:154378889 DPP6 A>G	7	154378889	154378889	A	G	DPP6	c.*5A>G	NM_001364502.2	NP_001351431.1:p.?	NC_000007.13:g.154378889A>G	(Likely) benign	1 lab	67e4d7d066
2:85522180 MISSING C>Alt too long to show for this DUP	2	85522180	85685561	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.85522181_85685561dup	VUS	1 lab	67e6df1508
12:111066684 TCTN1 C>T	12	111066684	111066684	C	T	TCTN1	c.51C>T	NM_001319681.2	NP_001306610.1:p.(Phe17=)	NC_000012.11:g.111066684C>T	(Likely) benign	1 lab	67ea7b1fbc
11:68707054 IGHMBP2 G>A	11	68707054	68707054	G	A	IGHMBP2	c.2837G>A	NM_002180.3	NP_002171.2:p.(Arg946Gln)	NC_000011.9:g.68707054G>A	VUS	1 lab	67ed0bb83a
4:83347266 HNRNPDL A>G	4	83347266	83347266	A	G	HNRNPDL	c.1209T>C	NM_031372.4	NP_112740.1:p.(Tyr403=)	NC_000004.11:g.83347266A>G	(Likely) benign	1 lab	67f26b6364
13:32900715 BRCA2 C>CTACA	13	32900715	32900719	C	CTACA	BRCA2	c.597_600dup	NM_000059.4	NP_000050.3:p.(Pro201TyrfsTer6)	NC_000013.10:g.32900716_32900719dup	(Likely) pathogenic	1 lab	67f36202c0
12:32955345 PKP2 T>C	12	32955345	32955345	T	C	PKP2	c.2291A>G	NM_004572.4	NP_004563.2:p.(Asn764Ser)	NC_000012.11:g.32955345T>C	VUS	1 lab	67f3b09090
9:107591478 ABCA1 G>A	9	107591478	107591478	G	A	ABCA1	c.1893-59C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591478G>A	(Likely) benign	1 lab	67f5278ce9
16:46744650 MYLK3 A>G	16	46744650	46744650	A	G	MYLK3	c.2166T>C	NM_182493.3	NP_872299.2:p.(Asn722=)	NC_000016.9:g.46744650A>G	(Likely) benign	1 lab	67f7463e81
2:121728182 GLI2 G>C	2	121728182	121728182	G	C	GLI2	c.1059G>C	NM_001371271.1	NP_001358200.1:p.(Gln353His)	NC_000002.11:g.121728182G>C	VUS	1 lab	67f7715cfb
9:35719720 TLN1 C>T	9	35719720	35719720	C	T	TLN1	c.1578+17G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35719720C>T	(Likely) benign	1 lab	67f821fd63
20:14774711 MACROD2 Ref too long to show for this DEL>G	20	14774711	15098633	Ref too long to show for this DEL	G	MACROD2	c.418+109107_419-111953del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14774712_15098633del	VUS	1 lab	67faee0544
8:134256652 NDRG1 C>T	8	134256652	134256652	C	T	NDRG1	c.856-19G>A	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134256652C>T	(Likely) benign	1 lab	67fca05cc5
17:56436049 RNF43 C>T	17	56436049	56436049	C	T	RNF43	c.1088G>A	NM_017763.6	NP_060233.3:p.(Arg363Gln)	NC_000017.10:g.56436049C>T	VUS	1 lab	67fdf8c3cd
16:28689084 MISSING Ref too long to show for this DEL>G	16	28689084	29051192	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28689086_29051192del	(Likely) pathogenic	1 lab	6800bccc12
2:48026486 MSH6 A>G	2	48026486	48026486	A	G	MSH6	c.1364A>G	NM_000179.3	NP_000170.1:p.(Asn455Ser)	NC_000002.11:g.48026486A>G	(Likely) benign	1 lab	68033cbc1c
11:48188908 PTPRJ C>A	11	48188908	48188908	C	A	PTPRJ	c.4008C>A	NM_002843.4	NP_002834.3:p.(Ile1336=)	NC_000011.9:g.48188908C>A	(Likely) benign	1 lab	68041ec673
6:111527839 SLC16A10 G>A	6	111527839	111527839	G	A	SLC16A10	c.987G>A	NM_018593.5	NP_061063.2:p.(Glu329=)	NC_000006.11:g.111527839G>A	(Likely) benign	1 lab	6804c49d7b
1:236925481 ACTN2 C>G	1	236925481	236925481	C	G	ACTN2	c.2527-280C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236925481C>G	(Likely) benign	1 lab	68054a496c
19:10906758 DNM2 C>T	19	10906758	10906758	C	T	DNM2	c.1218C>T	NM_001005360.3	NP_001005360.1:p.(Asp406=)	NC_000019.9:g.10906758C>T	(Likely) benign	1 lab	68074cfd95
2:44099364 ABCG8 GCGTGACCCCACTAGACACCA>G	2	44099364	44099384	GCGTGACCCCACTAGACACCA	G	ABCG8	c.1131_1150del	NM_022437.3	NP_071882.1:p.(Ser377ArgfsTer98)	NC_000002.11:g.44099365_44099384del	(Likely) pathogenic	1 lab	6808d65ac7
12:80131418 MISSING A>Alt too long to show for this DUP	12	80131418	80190986	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.80131419_80190986dup	VUS	1 lab	680936157f
7:107545825 DLD A>G	7	107545825	107545825	A	G	DLD	c.458A>G	NM_000108.5	NP_000099.2:p.(Tyr153Cys)	NC_000007.13:g.107545825A>G	VUS	1 lab	680afa7894
2:189916144 COL5A2 C>T	2	189916144	189916144	C	T	COL5A2	c.2833G>A	NM_000393.5	NP_000384.2:p.(Gly945Arg)	NC_000002.11:g.189916144C>T	(Likely) pathogenic	1 lab	680bade0ac
1:11073794 TARDBP T>C	1	11073794	11073794	T	C	TARDBP	c.10T>C	NM_007375.4	NP_031401.1:p.(Tyr4His)	NC_000001.10:g.11073794T>C	VUS	1 lab	680eb40975
2:179584525 TTN C>T	2	179584525	179584525	C	T	TTN	c.23694G>A	NM_001267550.2	NP_001254479.2:p.(Met7898Ile)	NC_000002.11:g.179584525C>T	VUS	1 lab	680f59620c
7:112090748 IFRD1 C>T	7	112090748	112090748	C	T	IFRD1	c.5C>T	NM_001550.4	NP_001541.2:p.(Pro2Leu)	NC_000007.13:g.112090748C>T	(Likely) benign	1 lab	6813d1eac2
8:144297646 GPIHBP1 C>T	8	144297646	144297646	C	T	GPIHBP1	c.*253C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297646C>T	(Likely) benign	1 lab	68156068bb
17:75484200 SEPTIN9 TC>T	17	75484200	75484203	TC	T	SEPTIN9	c.989-119del	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484203del	(Likely) benign	1 lab	681593f26a
6:75855097 COL12A1 G>C	6	75855097	75855097	G	C	COL12A1	c.4635C>G	NM_004370.6	NP_004361.3:p.(Val1545=)	NC_000006.11:g.75855097G>C	(Likely) benign	1 lab	681636fdbd
5:80063912 MSH3 T>TA	5	80063912	80063915	T	TA	MSH3	c.2060dup	NM_002439.5	NP_002430.3:p.(Ile688AspfsTer4)	NC_000005.9:g.80063915dup	(Likely) pathogenic	1 lab	681dabef7c
17:4936972 SLC52A1 G>A	17	4936972	4936972	G	A	SLC52A1	c.812C>T	NM_001104577.2	NP_001098047.1:p.(Ala271Val)	NC_000017.10:g.4936972G>A	(Likely) benign	1 lab	681fbb32e0
19:43865316 CD177 C>G	19	43865316	43865316	C	G	CD177	c.782=	NM_020406.4	NP_065139.2:p.(Gly261=)	NC_000019.9:g.43865316C>G	(Likely) benign	1 lab	6820b23d2d
8:19809453 LPL G>C	8	19809453	19809453	G	C	LPL	c.423G>C	NM_000237.3	NP_000228.1:p.(Trp141Cys)	NC_000008.10:g.19809453G>C	VUS	1 lab	68223bcab5
12:7189342 C1R A>G	12	7189342	7189342	A	G	C1R	c.1342T>C	NM_001733.7	NP_001724.4:p.(Leu448=)	NC_000012.11:g.7189342A>G	(Likely) benign	1 lab	682288093d
10:91007603 LIPA TTTTA>T	10	91007603	91007640	TTTTA	T	LIPA	c.-1-201_-1-198del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007637_91007640del	(Likely) benign	1 lab	682488c930
7:6027087 PMS2 G>A	7	6027087	6027087	G	A	PMS2	c.1309C>T	NM_000535.7	NP_000526.2:p.(Pro437Ser)	NC_000007.13:g.6027087G>A	(Likely) benign	1 lab	682655b1fa
6:32489743 HLA-DRB5 CG>C	6	32489743	32489744	CG	C	HLA-DRB5	c.308del	NM_002125.4	NP_002116.2:p.(Ala103GlyfsTer26)	NC_000006.11:g.32489744del	(Likely) benign	1 lab	6828bd7d55
19:50721014 MYH14 G>A	19	50721014	50721014	G	A	MYH14	c.548G>A	NM_001145809.2	NP_001139281.1:p.(Arg183Gln)	NC_000019.9:g.50721014G>A	VUS	1 lab	682a09f3bd
6:123824786 TRDN A>G	6	123824786	123824786	A	G	TRDN	c.*10T>C	NM_001256021.2	NP_001242950.1:p.?	NC_000006.11:g.123824786A>G	(Likely) benign	1 lab	682df711d1
2:179478953 TTN G>A	2	179478953	179478953	G	A	TTN	c.49171C>T	NM_001267550.2	NP_001254479.2:p.(Arg16391Ter)	NC_000002.11:g.179478953G>A	(Likely) pathogenic	1 lab	683a036ede
1:186114591 HMCN1 G>A	1	186114591	186114591	G	A	HMCN1	c.14323G>A	NM_031935.3	NP_114141.2:p.(Gly4775Arg)	NC_000001.10:g.186114591G>A	(Likely) benign	1 lab	683a5783e8
16:1004643 LMF1 G>A	16	1004643	1004643	G	A	LMF1	c.217C>T	NM_022773.4	NP_073610.2:p.(His73Tyr)	NC_000016.9:g.1004643G>A	VUS	1 lab	683a8386cb
5:65364692 ERBIN CCT>C	5	65364692	65364696	CCT	C	ERBIN	c.3634-10_3634-9del	NM_001253699.2	NP_001240628.1:p.?	NC_000005.9:g.65364695_65364696del	(Likely) benign	1 lab	683ae65d0d
2:21227260 APOB A>G	2	21227260	21227260	A	G	APOB	c.11968T>C	NM_000384.3	NP_000375.3:p.(Tyr3990His)	NC_000002.11:g.21227260A>G	VUS	1 lab	683c525011
5:127624801 FBN2 T>C	5	127624801	127624801	T	C	FBN2	c.6637+18A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624801T>C	(Likely) benign	1 lab	68402ed9ed
9:32544171 TOPORS G>A	9	32544171	32544171	G	A	TOPORS	c.352C>T	NM_005802.5	NP_005793.2:p.(Arg118Cys)	NC_000009.11:g.32544171G>A	VUS	1 lab	68424c4d53
6:75890933 COL12A1 T>TG	6	75890933	75890934	T	TG	COL12A1	c.1892-7_1892-6insC	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890933_75890934insG	(Likely) benign	1 lab	68427a8e91
12:122261183 SETD1B C>T	12	122261183	122261183	C	T	SETD1B	c.4698C>T	NM_001353345.2	NP_001340274.1:p.(Asp1566=)	NC_000012.11:g.122261183C>T	(Likely) benign	1 lab	6849af82c1
11:18428658 LDHA C>T	11	18428658	18428658	C	T	LDHA	c.922-6C>T	NM_001165414.2	NP_001158886.1:p.?	NC_000011.9:g.18428658C>T	(Likely) benign	1 lab	684ae4e0b2
16:29432211 MISSING Ref too long to show for this DEL>C	16	29432211	30177241	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29432213_30177241del	(Likely) pathogenic	1 lab	684c06f9ca
15:45392377 DUOX2 T>C	15	45392377	45392377	T	C	DUOX2	c.3055A>G	NM_014080.5	NP_054799.4:p.(Met1019Val)	NC_000015.9:g.45392377T>C	(Likely) benign	1 lab	684cb41ae6
4:152400740 MISSING Ref too long to show for this DEL>G	4	152400740	152660447	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.152400742_152660447del	VUS	1 lab	68520b150d
X:152773688 BGN C>T	X	152773688	152773688	C	T	BGN	c.910-18C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152773688C>T	(Likely) benign	1 lab	68536776bc
15:30865123 MISSING Ref too long to show for this DEL>C	15	30865123	32514980	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.30865124_32514980del	(Likely) pathogenic	1 lab	6857d6d051
6:66005907 EYS C>T	6	66005907	66005907	C	T	EYS	c.1872G>A	NM_001292009.2	NP_001278938.1:p.(Ser624=)	NC_000006.11:g.66005907C>T	(Likely) benign	1 lab	685955a8ed
10:92678933 ANKRD1 C>G	10	92678933	92678933	C	G	ANKRD1	c.300G>C	NM_014391.3	NP_055206.2:p.(Arg100Ser)	NC_000010.10:g.92678933C>G	VUS	1 lab	685c0e544e
1:168104164 GPR161 G>A	1	168104164	168104164	G	A	GPR161	c.-159C>T	NM_001349632.1	NP_001336561.1:p.?	NC_000001.10:g.168104164G>A	(Likely) benign	1 lab	685e6c0ebf
5:140907266 DIAPH1 TAA>T	5	140907266	140907289	TAA	T	DIAPH1	c.3149-4_3149-3del	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907288_140907289del	(Likely) benign	1 lab	685f583ded
2:21247914 APOB T>G	2	21247914	21247914	T	G	APOB	c.2327A>C	NM_000384.3	NP_000375.3:p.(Tyr776Ser)	NC_000002.11:g.21247914T>G	VUS	1 lab	685fab7eac
20:25224959 MISSING Ref too long to show for this DEL>T	20	25224959	25278841	Ref too long to show for this DEL	T	MISSING				NC_000020.10:g.25224960_25278841del	VUS	1 lab	686168d1f5
11:116707190 APOA1 G>A	11	116707190	116707190	G	A	APOA1	c.201-63C>T	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116707190G>A	(Likely) benign	1 lab	6863426cdb
6:112457376 LAMA4 A>G	6	112457376	112457376	A	G	LAMA4	c.3342T>C	NM_002290.5	NP_002281.3:p.(His1114=)	NC_000006.11:g.112457376A>G	(Likely) benign	1 lab	686806d26e
19:11227613 LDLR G>T	19	11227613	11227613	G	T	LDLR	c.1784G>T	NM_000527.5	NP_000518.1:p.(Arg595Leu)	NC_000019.9:g.11227613G>T	(Likely) pathogenic	1 lab	6868585f5d
X:57841179 MISSING G>Alt too long to show for this DUP	X	57841179	58183054	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.57841180_58183054dup	VUS	1 lab	686d07e4ca
10:69991099 ATOH7 G>A	10	69991099	69991099	G	A	ATOH7	c.336C>T	NM_145178.4	NP_660161.1:p.(His112=)	NC_000010.10:g.69991099G>A	(Likely) benign	1 lab	686d69af81
19:11223684 LDLR T>TTGTG	19	11223684	11223688	T	TTGTG	LDLR	c.1187-269_1187-266dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223685_11223688dup	(Likely) benign	1 lab	686dc9d710
10:12142224 DHTKD1 C>T	10	12142224	12142224	C	T	DHTKD1	c.1719C>T	NM_018706.7	NP_061176.4:p.(Thr573=)	NC_000010.10:g.12142224C>T	(Likely) benign	1 lab	6872a1acfd
11:112099311 PTS G>T	11	112099311	112099311	G	T	PTS	c.84-6G>T	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099311G>T	(Likely) benign	1 lab	6873228bb0
19:11241780 LDLR G>A	19	11241780	11241780	G	A	LDLR	c.2548-177G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241780G>A	(Likely) benign	1 lab	68733d27d4
13:52544615 ATP7B G>A	13	52544615	52544615	G	A	ATP7B	c.1543+13C>T	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52544615G>A	(Likely) benign	1 lab	687971d78d
7:157168373 MISSING T>Alt too long to show for this DUP	7	157168373	157345412	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.157168374_157345412dup	VUS	1 lab	687b394f2a
1:17356094 MISSING Ref too long to show for this DEL>T	1	17356094	17405023	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.17356095_17405023del	(Likely) pathogenic	1 lab	687cb96b25
2:112779952 MERTK G>C	2	112779952	112779952	G	C	MERTK	c.2467G>C	NM_006343.3	NP_006334.2:p.(Glu823Gln)	NC_000002.11:g.112779952G>C	(Likely) benign	1 lab	687d877e5e
2:73799445 ALMS1 A>G	2	73799445	73799445	A	G	ALMS1	c.10444A>G	NM_015120.4	NP_055935.4:p.(Lys3482Glu)	NC_000002.11:g.73799445A>G	(Likely) benign	1 lab	687d9c7c75
13:88618516 MISSING Ref too long to show for this DEL>A	13	88618516	95339290	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.88618520_95339290del	(Likely) pathogenic	1 lab	6880107433
16:89357523 ANKRD11 C>T	16	89357523	89357523	C	T	ANKRD11	c.295G>A	NM_001256182.2	NP_001243111.1:p.(Gly99Ser)	NC_000016.9:g.89357523C>T	VUS	1 lab	6880bd3aca
4:100521638 MTTP C>T	4	100521638	100521638	C	T	MTTP	c.1068-84C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521638C>T	(Likely) benign	1 lab	68823f1a96
16:75668164 KARS1 G>C	16	75668164	75668164	G	C	KARS1	c.906C>G	NM_001130089.2	NP_001123561.1:p.(Ile302Met)	NC_000016.9:g.75668164G>C	VUS	1 lab	68866917d1
10:134980953 KNDC1 C>T	10	134980953	134980953	C	T	KNDC1	c.171C>T	NM_152643.8	NP_689856.6:p.(Ala57=)	NC_000010.10:g.134980953C>T	(Likely) benign	1 lab	688dd6d783
17:48267939 COL1A1 C>T	17	48267939	48267939	C	T	COL1A1	c.2362G>A	NM_000088.4	NP_000079.2:p.(Gly788Ser)	NC_000017.10:g.48267939C>T	(Likely) pathogenic	1 lab	688e0364ca
12:57963455 KIF5A G>T	12	57963455	57963455	G	T	KIF5A	c.1106G>T	NM_004984.4	NP_004975.2:p.(Arg369Leu)	NC_000012.11:g.57963455G>T	VUS	1 lab	688e821e21
3:38604335 SCN5A G>C	3	38604335	38604335	G	C	SCN5A	c.3841-307C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38604335G>C	(Likely) benign	1 lab	688f2ee899
18:47095791 LIPG T>C	18	47095791	47095791	T	C	LIPG	c.460-16T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095791T>C	(Likely) benign	1 lab	68943971ee
11:121415958 SORL1 C>T	11	121415958	121415958	C	T	SORL1	c.1871C>T	NM_003105.6	NP_003096.2:p.(Pro624Leu)	NC_000011.9:g.121415958C>T	VUS	1 lab	689972049d
1:150845825 MISSING Ref too long to show for this DEL>A	1	150845825	150862881	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.150845827_150862881del	VUS	1 lab	6899d8dc03
15:23890253 MAGEL2 T>C	15	23890253	23890253	T	C	MAGEL2	c.2637A>G	NM_019066.5	NP_061939.3:p.(Pro879=)	NC_000015.9:g.23890253T>C	(Likely) benign	1 lab	689a31bd2a
3:32180227 GPD1L G>A	3	32180227	32180227	G	A	GPD1L	c.366+8G>A	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32180227G>A	(Likely) benign	1 lab	689b708693
11:47359444 MYBPC3 G>GCCC	11	47359444	47359449	G	GCCC	MYBPC3	c.2309-102_2309-100dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359447_47359449dup	(Likely) benign	1 lab	689e67b4e0
6:56434719 DST T>C	6	56434719	56434719	T	C	DST	c.7456A>G	NM_001144769.5	NP_001138241.1:p.(Lys2486Glu)	NC_000006.11:g.56434719T>C	VUS	1 lab	689edfde49
2:189862161 COL3A1 G>T	2	189862161	189862161	G	T	COL3A1	c.1869+46G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862161G>T	(Likely) benign	1 lab	689f19d197
5:168584702 SLIT3 T>Alt too long to show for this DUP	5	168584702	168677340	T	Alt too long to show for this DUP	SLIT3	c.269+1053_413+35780dup	NM_003062.4	NP_003053.2:p.?	NC_000005.9:g.168584704_168677340dup	VUS	1 lab	689fbe0e59
1:245870657 MISSING C>Alt too long to show for this DUP	1	245870657	246280487	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.245870661_246280487dup	VUS	1 lab	68a1427446
6:116752570 DSE T>C	6	116752570	116752570	T	C	DSE	c.910+214T>C	NM_013352.4	NP_037484.1:p.?	NC_000006.11:g.116752570T>C	(Likely) benign	1 lab	68a261f3fb
7:38796435 VPS41 T>C	7	38796435	38796435	T	C	VPS41	c.1695+3A>G	NM_014396.4	NP_055211.2:p.?	NC_000007.13:g.38796435T>C	VUS	1 lab	68a2c20c2d
6:66005829 EYS C>T	6	66005829	66005829	C	T	EYS	c.1950G>A	NM_001292009.2	NP_001278938.1:p.(Ala650=)	NC_000006.11:g.66005829C>T	(Likely) benign	1 lab	68a72b8c6f
1:63066886 ANGPTL3 T>C	1	63066886	63066886	T	C	ANGPTL3	c.721+19T>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63066886T>C	(Likely) benign	1 lab	68a8bd2a22
9:79952352 VPS13A G>A	9	79952352	79952352	G	A	VPS13A	c.6277G>A	NM_033305.3	NP_150648.2:p.(Val2093Met)	NC_000009.11:g.79952352G>A	(Likely) benign	1 lab	68ab3cc3be
12:21325814 SLCO1B1 T>G	12	21325814	21325814	T	G	SLCO1B1	c.226+89T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325814T>G	(Likely) benign	1 lab	68acd5f100
7:91632176 AKAP9 C>A	7	91632176	91632176	C	A	AKAP9	c.2945C>A	NM_005751.5	NP_005742.4:p.(Ser982Tyr)	NC_000007.13:g.91632176C>A	(Likely) benign	1 lab	68acf4136c
2:212530199 ERBB4 G>T	2	212530199	212530199	G	T	ERBB4	c.1720C>A	NM_005235.3	NP_005226.1:p.(Pro574Thr)	NC_000002.11:g.212530199G>T	VUS	1 lab	68ad57e7b0
9:6541399 GLDC Ref too long to show for this DEL>C	9	6541399	6592172	Ref too long to show for this DEL	C	GLDC	c.1453_2570-1254del	NM_000170.3	NP_000161.2:p.?	NC_000009.11:g.6541400_6592172del	VUS	1 lab	68af1f45d8
2:179417916 TTN C>T	2	179417916	179417916	C	T	TTN	c.89711G>A	NM_001267550.2	NP_001254479.2:p.(Arg29904His)	NC_000002.11:g.179417916C>T	VUS	1 lab	68b1d87ba3
9:107555525 ABCA1 C>A	9	107555525	107555525	C	A	ABCA1	c.5563G>T	NM_005502.4	NP_005493.2:p.(Ala1855Ser)	NC_000009.11:g.107555525C>A	VUS	1 lab	68b1ec2a8d
10:55626630 PCDH15 GA>G	10	55626630	55626639	GA	G	PCDH15	c.3517-14del	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55626639del	(Likely) benign	1 lab	68b36d1279
12:122265564 SETD1B C>T	12	122265564	122265564	C	T	SETD1B	c.5469+8C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122265564C>T	(Likely) benign	1 lab	68b73143a4
9:107589331 ABCA1 C>A	9	107589331	107589331	C	A	ABCA1	c.2235G>T	NM_005502.4	NP_005493.2:p.(Leu745=)	NC_000009.11:g.107589331C>A	(Likely) benign	1 lab	68b81ab25c
2:234255566 SAG G>A	2	234255566	234255566	G	A	SAG	c.*8G>A	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234255566G>A	(Likely) benign	1 lab	68b8eb96f8
20:34278459 NFS1 T>C	20	34278459	34278459	T	C	NFS1	c.437A>G	NM_021100.5	NP_066923.3:p.(Lys146Arg)	NC_000020.10:g.34278459T>C	(Likely) benign	1 lab	68b9d18335
10:55849812 PCDH15 T>G	10	55849812	55849812	T	G	PCDH15	c.1944A>C	NM_001142771.2	NP_001136243.1:p.(Arg648=)	NC_000010.10:g.55849812T>G	(Likely) benign	1 lab	68bba64f98
18:29078207 DSG2 AG>A	18	29078207	29078210	AG	A	DSG2	c.-5del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29078210del	VUS	1 lab	68bff7e49c
17:54624165 MISSING Ref too long to show for this DEL>C	17	54624165	54726096	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.54624166_54726096del	(Likely) pathogenic	1 lab	68c0dc99ae
1:161276552 MPZ G>C	1	161276552	161276552	G	C	MPZ	c.394C>G	NM_000530.8	NP_000521.2:p.(Pro132Ala)	NC_000001.10:g.161276552G>C	(Likely) pathogenic	1 lab	68c6ae6d7b
1:25893426 LDLRAP1 C>T	1	25893426	25893426	C	T	LDLRAP1	c.870C>T	NM_015627.3	NP_056442.2:p.(Val290=)	NC_000001.10:g.25893426C>T	(Likely) benign	1 lab	68c78db119
15:45480036 SHF G>T	15	45480036	45480036	G	T	SHF	c.114C>A	NM_001301168.2	NP_001288097.2:p.(Gly38=)	NC_000015.9:g.45480036G>T	(Likely) benign	1 lab	68c970c5e5
9:113168501 SVEP1 A>G	9	113168501	113168501	A	G	SVEP1	c.9379T>C	NM_153366.4	NP_699197.3:p.(Ser3127Pro)	NC_000009.11:g.113168501A>G	(Likely) benign	1 lab	68c995da6d
11:108206618 ATM A>C	11	108206618	108206618	A	C	ATM	c.8198A>C	NM_000051.4	NP_000042.3:p.(Gln2733Pro)	NC_000011.9:g.108206618A>C	VUS	1 lab	68cd26abe0
9:27220066 TEK G>A	9	27220066	27220066	G	A	TEK	c.3123G>A	NM_000459.5	NP_000450.3:p.(Gly1041=)	NC_000009.11:g.27220066G>A	(Likely) benign	1 lab	68cf828cb1
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATA	(Likely) benign	1 lab	68cff10143
19:11242330 LDLR G>A	19	11242330	11242330	G	A	LDLR	c.*338G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242330G>A	(Likely) benign	1 lab	68d300aebc
9:107665977 ABCA1 C>T	9	107665977	107665977	C	T	ABCA1	c.-17G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665977C>T	VUS	1 lab	68d6a68869
X:46896678 MISSING C>Alt too long to show for this DUP	X	46896678	46942050	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.46896679_46942050dup	VUS	1 lab	68d7875d02
10:71144155 HK1 G>A	10	71144155	71144155	G	A	HK1	c.1742G>A	NM_001322365.2	NP_001309294.1:p.(Arg581His)	NC_000010.10:g.71144155G>A	VUS	1 lab	68dd6c2058
17:9086228 NTN1 C>A	17	9086228	9086228	C	A	NTN1	c.1358-5C>A	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9086228C>A	(Likely) benign	1 lab	68e5abb19f
1:186097290 HMCN1 T>C	1	186097290	186097290	T	C	HMCN1	c.12771T>C	NM_031935.3	NP_114141.2:p.(His4257=)	NC_000001.10:g.186097290T>C	(Likely) benign	1 lab	68e9e85304
10:73501675 CDH23 G>C	10	73501675	73501675	G	C	CDH23	c.4842G>C	NM_022124.6	NP_071407.4:p.(Leu1614=)	NC_000010.10:g.73501675G>C	(Likely) benign	1 lab	68eb8b7c35
5:133956668 SAR1B G>A	5	133956668	133956668	G	A	SAR1B	c.133C>T	NM_001033503.3	NP_001028675.1:p.(Leu45=)	NC_000005.9:g.133956668G>A	(Likely) benign	1 lab	68ebc2a9d6
15:52672033 MYO5A G>A	15	52672033	52672033	G	A	MYO5A	c.2085C>T	NM_000259.3	NP_000250.3:p.(Ala695=)	NC_000015.9:g.52672033G>A	(Likely) benign	1 lab	68ebc405c3
9:107571832 ABCA1 C>T	9	107571832	107571832	C	T	ABCA1	c.4189G>A	NM_005502.4	NP_005493.2:p.(Glu1397Lys)	NC_000009.11:g.107571832C>T	VUS	1 lab	68ede49c84
8:10467361 RP1L1 G>A	8	10467361	10467361	G	A	RP1L1	c.4247C>T	NM_178857.6	NP_849188.4:p.(Pro1416Leu)	NC_000008.10:g.10467361G>A	(Likely) benign	1 lab	6900231486
X:70443689 GJB1 G>A	X	70443689	70443689	G	A	GJB1	c.132G>A	NM_000166.6	NP_000157.1:p.(Trp44Ter)	NC_000023.10:g.70443689G>A	(Likely) pathogenic	1 lab	6900e9c862
8:19818771 LPL A>T	8	19818771	19818771	A	T	LPL	c.1322+177A>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818771A>T	(Likely) benign	1 lab	6907b666a7
4:100532502 MTTP G>A	4	100532502	100532502	G	A	MTTP	c.1881G>A	NM_000253.4	NP_000244.2:p.(Ser627=)	NC_000004.11:g.100532502G>A	(Likely) benign	1 lab	690c8362c7
1:236900597 ACTN2 G>GTATATATATATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATATATATATA	(Likely) benign	1 lab	690d0448bf
3:129152089 MBD4 G>A	3	129152089	129152089	G	A	MBD4	c.1413C>T	NM_003925.3	NP_003916.1:p.(Gly471=)	NC_000003.11:g.129152089G>A	(Likely) benign	1 lab	690ea1a59d
2:189862636 COL3A1 G>A	2	189862636	189862636	G	A	COL3A1	c.1923+157G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862636G>A	(Likely) benign	1 lab	691126aaa8
16:84065492 SLC38A8 A>C	16	84065492	84065492	A	C	SLC38A8	c.612T>G	NM_001080442.3	NP_001073911.1:p.(Arg204=)	NC_000016.9:g.84065492A>C	(Likely) benign	1 lab	6911354e9a
3:32207343 GPD1L G>A	3	32207343	32207343	G	A	GPD1L	c.997G>A	NM_015141.4	NP_055956.1:p.(Glu333Lys)	NC_000003.11:g.32207343G>A	VUS	1 lab	69145b63cf
1:117944941 MAN1A2 C>T	1	117944941	117944941	C	T	MAN1A2	c.436C>T	NM_006699.5	NP_006690.1:p.(Gln146Ter)	NC_000001.10:g.117944941C>T	VUS	1 lab	691661aa59
7:37172722 ELMO1 G>T	7	37172722	37172722	G	T	ELMO1	c.1191+13C>A	NM_001206482.2	NP_001193411.1:p.?	NC_000007.13:g.37172722G>T	(Likely) benign	1 lab	691830e6be
11:1782677 CTSD C>T	11	1782677	1782677	C	T	CTSD	c.90G>A	NM_001909.5	NP_001900.1:p.(Thr30=)	NC_000011.9:g.1782677C>T	(Likely) benign	1 lab	691956b21b
16:2505490 CCNF T>A	16	2505490	2505490	T	A	CCNF	c.1810T>A	NM_001761.3	NP_001752.2:p.(Phe604Ile)	NC_000016.9:g.2505490T>A	(Likely) benign	1 lab	6919cc02f0
5:148407997 SH3TC2 G>A	5	148407997	148407997	G	A	SH3TC2	c.1298C>T	NM_024577.4	NP_078853.2:p.(Ser433Leu)	NC_000005.9:g.148407997G>A	VUS	1 lab	6919f67041
10:48389951 RBP3 G>A	10	48389951	48389951	G	A	RBP3	c.927C>T	NM_002900.3	NP_002891.1:p.(Ala309=)	NC_000010.10:g.48389951G>A	(Likely) benign	1 lab	691c1e9134
14:102463573 DYNC1H1 G>A	14	102463573	102463573	G	A	DYNC1H1	c.3766G>A	NM_001376.5	NP_001367.2:p.(Asp1256Asn)	NC_000014.8:g.102463573G>A	VUS	1 lab	69221bdbd7
11:121454206 SORL1 G>A	11	121454206	121454206	G	A	SORL1	c.3620G>A	NM_003105.6	NP_003096.2:p.(Arg1207Gln)	NC_000011.9:g.121454206G>A	(Likely) benign	1 lab	6925c0c44f
11:77090364 PAK1 G>A	11	77090364	77090364	G	A	PAK1	c.361C>T	NM_001128620.2	NP_001122092.1:p.(Pro121Ser)	NC_000011.9:g.77090364G>A	(Likely) pathogenic	1 lab	692c18df60
4:114275523 ANK2 T>G	4	114275523	114275523	T	G	ANK2	c.5749T>G	NM_001148.6	NP_001139.3:p.(Ser1917Ala)	NC_000004.11:g.114275523T>G	VUS	1 lab	692ecc8f07
19:11222234 LDLR G>A	19	11222234	11222234	G	A	LDLR	c.1105G>A	NM_000527.5	NP_000518.1:p.(Val369Met)	NC_000019.9:g.11222234G>A	VUS	1 lab	6933746202
X:70443630 GJB1 C>T	X	70443630	70443630	C	T	GJB1	c.73C>T	NM_000166.6	NP_000157.1:p.(Leu25Phe)	NC_000023.10:g.70443630C>T	(Likely) pathogenic	1 lab	6934cca21b
1:3103029 PRDM16 C>T	1	3103029	3103029	C	T	PRDM16	c.378C>T	NM_022114.4	NP_071397.3:p.(Phe126=)	NC_000001.10:g.3103029C>T	(Likely) benign	1 lab	6934f04ff7
7:150644929 KCNH2 C>T	7	150644929	150644929	C	T	KCNH2	c.2730G>A	NM_000238.4	NP_000229.1:p.(Pro910=)	NC_000007.13:g.150644929C>T	(Likely) benign	1 lab	6935ef9d23
16:77359893 ADAMTS18 A>C	16	77359893	77359893	A	C	ADAMTS18	c.1902T>G	NM_199355.4	NP_955387.1:p.(Ile634Met)	NC_000016.9:g.77359893A>C	(Likely) benign	1 lab	693a443e80
18:47110162 LIPG C>T	18	47110162	47110162	C	T	LIPG	c.1376+18C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47110162C>T	(Likely) benign	1 lab	693eeab76d
10:92672676 ANKRD1 A>G	10	92672676	92672676	A	G	ANKRD1	c.907T>C	NM_014391.3	NP_055206.2:p.(Phe303Leu)	NC_000010.10:g.92672676A>G	VUS	1 lab	693f913fc0
15:85400599 ALPK3 C>G	15	85400599	85400599	C	G	ALPK3	c.2630C>G	NM_020778.5	NP_065829.4:p.(Ala877Gly)	NC_000015.9:g.85400599C>G	VUS	1 lab	693fab78f0
X:150561714 MISSING C>Alt too long to show for this DUP	X	150561714	150649691	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150561715_150649691dup	VUS	1 lab	6940a23bb5
10:92680438 ANKRD1 G>A	10	92680438	92680438	G	A	ANKRD1	c.27+320C>T	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680438G>A	(Likely) benign	1 lab	6940f0d071
16:68845766 CDH1 A>AG	16	68845766	68845770	A	AG	CDH1	c.1008+8dup	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68845770dup	(Likely) benign	1 lab	6942d3872e
11:47366388 MYBPC3 T>C	11	47366388	47366388	T	C	MYBPC3	c.1091-1213A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366388T>C	VUS	1 lab	6943258578
2:179648510 TTN T>C	2	179648510	179648510	T	C	TTN	c.2778A>G	NM_001267550.2	NP_001254479.2:p.(Val926=)	NC_000002.11:g.179648510T>C	(Likely) benign	1 lab	6943ca5d9f
6:162683814 PRKN T>TAAAAAAAAAAAAAAAAAAAAA	6	162683814	162683835	T	TAAAAAAAAAAAAAAAAAAAAA	PRKN	c.172-38_172-18dup	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162683815_162683835dup	(Likely) benign	1 lab	6946d28d16
16:50783696 CYLD C>T	16	50783696	50783696	C	T	CYLD	c.87C>T	NM_015247.3	NP_056062.1:p.(Ser29=)	NC_000016.9:g.50783696C>T	(Likely) benign	1 lab	694957e8d8
1:237551398 RYR2 G>A	1	237551398	237551398	G	A	RYR2	c.688G>A	NM_001035.3	NP_001026.2:p.(Gly230Ser)	NC_000001.10:g.237551398G>A	VUS	1 lab	695010708f
11:47361719 MYBPC3 TACAC>T	11	47361719	47361726	TACAC	T	MYBPC3	c.1928-382_1928-379del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361723_47361726del	(Likely) benign	1 lab	69509a60b7
2:179456166 TTN CTG>C	2	179456166	179456170	CTG	C	TTN	c.60284_60285del	NM_001267550.2	NP_001254479.2:p.(Thr20095SerfsTer23)	NC_000002.11:g.179456169_179456170del	(Likely) pathogenic	1 lab	695516ff63
16:1412592 GNPTG C>T	16	1412592	1412592	C	T	GNPTG	c.610-20C>T	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1412592C>T	(Likely) benign	1 lab	695a2c20ab
1:151318895 RFX5 T>C	1	151318895	151318895	T	C	RFX5	c.-14+3A>G	NM_001379413.1	NP_001366342.1:p.?	NC_000001.10:g.151318895T>C	(Likely) benign	1 lab	6961c724c2
14:23869994 MYH6 T>C	14	23869994	23869994	T	C	MYH6	c.1334A>G	NM_002471.4	NP_002462.2:p.(Asn445Ser)	NC_000014.8:g.23869994T>C	VUS	1 lab	6964dd32d0
17:1579300 PRPF8 G>A	17	1579300	1579300	G	A	PRPF8	c.2601C>T	NM_006445.4	NP_006436.3:p.(Ile867=)	NC_000017.10:g.1579300G>A	(Likely) benign	1 lab	69650979d7
3:184045083 EIF4G1 C>T	3	184045083	184045083	C	T	EIF4G1	c.3511C>T	NM_182917.4	NP_886553.3:p.(Arg1171Cys)	NC_000003.11:g.184045083C>T	VUS	1 lab	6965d6daa0
10:62493023 ANK3 G>A	10	62493023	62493023	G	A	ANK3	c.55C>T	NM_001204403.2	NP_001191332.1:p.(Gln19Ter)	NC_000010.10:g.62493023G>A	VUS	1 lab	6966539ae6
X:70443619 GJB1 G>A	X	70443619	70443619	G	A	GJB1	c.62G>A	NM_000166.6	NP_000157.1:p.(Gly21Asp)	NC_000023.10:g.70443619G>A	(Likely) pathogenic	1 lab	69667eea3f
14:69714619 MISSING Ref too long to show for this DEL>C	14	69714619	69820764	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.69714620_69820764del	VUS	1 lab	696cbd5615
2:1652261 PXDN G>T	2	1652261	1652261	G	T	PXDN	c.3291C>A	NM_012293.3	NP_036425.1:p.(Pro1097=)	NC_000002.11:g.1652261G>T	(Likely) benign	1 lab	696e48bd82
2:21229930 APOB G>A	2	21229930	21229930	G	A	APOB	c.9810C>T	NM_000384.3	NP_000375.3:p.(Phe3270=)	NC_000002.11:g.21229930G>A	(Likely) benign	1 lab	696ef63903
4:86022 ZNF595 C>A	4	86022	86022	C	A	ZNF595	c.629=	NM_182524.4	NP_872330.1:p.(Asn210=)	NC_000004.11:g.86022C>A	(Likely) benign	1 lab	6972d60cda
14:92413585 FBLN5 G>A	14	92413585	92413585	G	A	FBLN5	c.-12C>T	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92413585G>A	(Likely) benign	1 lab	6976bce108
12:20864342 SLCO1C1 C>A	12	20864342	20864342	C	A	SLCO1C1	c.427C>A	NM_001145946.2	NP_001139418.1:p.(Pro143Thr)	NC_000012.11:g.20864342C>A	(Likely) benign	1 lab	6976e13919
2:32366959 SPAST A>AT	2	32366959	32366970	A	AT	SPAST	c.1494-3dup	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32366970dup	(Likely) benign	1 lab	6979382189
X:32481613 DMD C>G	X	32481613	32481613	C	G	DMD	c.3006G>C	NM_004010.3	NP_004001.1:p.(Ser1002=)	NC_000023.10:g.32481613C>G	(Likely) benign	1 lab	697c75f772
11:108202784 ATM G>A	11	108202784	108202784	G	A	ATM	c.7788+20G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202784G>A	(Likely) benign	1 lab	698003a0ba
1:237551437 RYR2 G>A	1	237551437	237551437	G	A	RYR2	c.727G>A	NM_001035.3	NP_001026.2:p.(Glu243Lys)	NC_000001.10:g.237551437G>A	VUS	1 lab	6981fa3f65
5:92929557 NR2F1 C>T	5	92929557	92929557	C	T	NR2F1	c.*9C>T	NM_005654.6	NP_005645.1:p.?	NC_000005.9:g.92929557C>T	(Likely) benign	1 lab	69830fc8d6
3:49692471 BSN G>A	3	49692471	49692471	G	A	BSN	c.5482G>A	NM_003458.4	NP_003449.2:p.(Gly1828Ser)	NC_000003.11:g.49692471G>A	(Likely) benign	1 lab	69861636c9
16:929593 LMF1 C>T	16	929593	929593	C	T	LMF1	c.874G>A	NM_022773.4	NP_073610.2:p.(Gly292Arg)	NC_000016.9:g.929593C>T	VUS	1 lab	698724977c
9:94877642 SPTLC1 G>C	9	94877642	94877642	G	C	SPTLC1	c.11C>G	NM_006415.4	NP_006406.1:p.(Ala4Gly)	NC_000009.11:g.94877642G>C	VUS	1 lab	6989f16280
11:47354042 MYBPC3 G>A	11	47354042	47354042	G	A	MYBPC3	c.3627+75C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354042G>A	(Likely) benign	1 lab	698a014d01
2:21258523 APOB C>T	2	21258523	21258523	C	T	APOB	c.751G>A	NM_000384.3	NP_000375.3:p.(Ala251Thr)	NC_000002.11:g.21258523C>T	(Likely) benign	1 lab	698a7169fe
16:88504204 ZNF469 G>C	16	88504204	88504204	G	C	ZNF469	c.10326G>C	NM_001367624.2	NP_001354553.1:p.(Arg3442Ser)	NC_000016.9:g.88504204G>C	(Likely) benign	1 lab	6990aa143a
10:75758063 VCL A>G	10	75758063	75758063	A	G	VCL	c.98A>G	NM_003373.4	NP_003364.1:p.(Asp33Gly)	NC_000010.10:g.75758063A>G	VUS	1 lab	6990ec29ed
4:1929001 MISSING Ref too long to show for this DEL>T	4	1929001	2035688	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.1929006_2035688del	(Likely) pathogenic	1 lab	69968a7369
7:150648552 KCNH2 G>A	7	150648552	150648552	G	A	KCNH2	c.1929C>T	NM_000238.4	NP_000229.1:p.(Cys643=)	NC_000007.13:g.150648552G>A	(Likely) benign	1 lab	699a3b51b8
16:67976302 LCAT C>T	16	67976302	67976302	C	T	LCAT	c.712G>A	NM_000229.2	NP_000220.1:p.(Gly238Ser)	NC_000016.9:g.67976302C>T	VUS	1 lab	699faa67e5
14:75515470 MLH3 G>A	14	75515470	75515470	G	A	MLH3	c.889C>T	NM_001040108.2	NP_001035197.1:p.(Arg297Trp)	NC_000014.8:g.75515470G>A	VUS	1 lab	69a06d1020
5:156672719 ITK G>A	5	156672719	156672719	G	A	ITK	c.1450-17G>A	NM_005546.4	NP_005537.3:p.?	NC_000005.9:g.156672719G>A	(Likely) benign	1 lab	69a31a2d10
11:129788521 PRDM10 G>C	11	129788521	129788521	G	C	PRDM10	c.2139C>G	NM_020228.3	NP_064613.2:p.(Phe713Leu)	NC_000011.9:g.129788521G>C	VUS	1 lab	69a356a3df
2:179429208 TTN C>A	2	179429208	179429208	C	A	TTN	c.81651G>T	NM_001267550.2	NP_001254479.2:p.(Trp27217Cys)	NC_000002.11:g.179429208C>A	VUS	1 lab	69a37d78e7
16:88504483 ZNF469 C>G	16	88504483	88504483	C	G	ZNF469	c.10605C>G	NM_001367624.2	NP_001354553.1:p.(Thr3535=)	NC_000016.9:g.88504483C>G	(Likely) benign	1 lab	69a54741fb
12:110230568 TRPV4 G>C	12	110230568	110230568	G	C	TRPV4	c.1713C>G	NM_021625.5	NP_067638.3:p.(Ile571Met)	NC_000012.11:g.110230568G>C	(Likely) benign	1 lab	69a789da84
15:71535207 THSD4 C>T	15	71535207	71535207	C	T	THSD4	c.684C>T	NM_024817.2	NP_079093.2:p.(Asp228=)	NC_000015.9:g.71535207C>T	(Likely) benign	1 lab	69a7e0511c
X:9716715 GPR143 C>G	X	9716715	9716715	C	G	GPR143	c.456-9G>C	NM_000273.3	NP_000264.2:p.?	NC_000023.10:g.9716715C>G	(Likely) benign	1 lab	69aa5a411d
2:96942729 SNRNP200 G>A	2	96942729	96942729	G	A	SNRNP200	c.6093-6C>T	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96942729G>A	(Likely) benign	1 lab	69ab09a760
16:57003977 CETP T>C	16	57003977	57003977	T	C	CETP	c.527+64T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003977T>C	(Likely) benign	1 lab	69b1cdff70
6:123592317 TRDN T>C	6	123592317	123592317	T	C	TRDN	c.1687A>G	NM_006073.4	NP_006064.2:p.(Lys563Glu)	NC_000006.11:g.123592317T>C	VUS	1 lab	69b2b74395
1:3328499 PRDM16 G>A	1	3328499	3328499	G	A	PRDM16	c.1738G>A	NM_022114.4	NP_071397.3:p.(Glu580Lys)	NC_000001.10:g.3328499G>A	VUS	1 lab	69b36b3854
1:196682965 CFH A>G	1	196682965	196682965	A	G	CFH	c.1437A>G	NM_000186.4	NP_000177.2:p.(Leu479=)	NC_000001.10:g.196682965A>G	(Likely) benign	1 lab	69b4536211
10:54031304 PRKG1 A>G	10	54031304	54031304	A	G	PRKG1	c.1268+55A>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54031304A>G	(Likely) benign	1 lab	69b52fb692
15:58834770 LIPC T>C	15	58834770	58834770	T	C	LIPC	c.494T>C	NM_000236.3	NP_000227.2:p.(Ile165Thr)	NC_000015.9:g.58834770T>C	VUS	1 lab	69b74c4bd7
11:1018355 MUC6 A>G	11	1018355	1018355	A	G	MUC6	c.4446T>C	NM_005961.3	NP_005952.2:p.(Gly1482=)	NC_000011.9:g.1018355A>G	(Likely) benign	1 lab	69ba4f1d9c
2:179395924 TTN C>A	2	179395924	179395924	C	A	TTN	c.105418G>T	NM_001267550.2	NP_001254479.2:p.(Val35140Phe)	NC_000002.11:g.179395924C>A	VUS	1 lab	69bc486927
14:23902309 MYH7 C>CCG	14	23902309	23902311	C	CCG	MYH7	c.327_328dup	NM_000257.4	NP_000248.2:p.(Gly110AlafsTer5)	NC_000014.8:g.23902310_23902311dup	VUS	1 lab	69bea72d64
16:68857303 CDH1 C>A	16	68857303	68857303	C	A	CDH1	c.1938C>A	NM_004360.5	NP_004351.1:p.(Thr646=)	NC_000016.9:g.68857303C>A	(Likely) benign	1 lab	69bf5c8aed
19:11222038 LDLR G>A	19	11222038	11222038	G	A	LDLR	c.1061-152G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222038G>A	(Likely) benign	1 lab	69bf9fc250
2:21226055 APOB A>G	2	21226055	21226055	A	G	APOB	c.12239T>C	NM_000384.3	NP_000375.3:p.(Val4080Ala)	NC_000002.11:g.21226055A>G	VUS	1 lab	69bfa1de28
17:48272196 COL1A1 AG>A	17	48272196	48272199	AG	A	COL1A1	c.1354-8del	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272199del	(Likely) benign	1 lab	69c1a9ab1a
4:65180437 TECRL G>A	4	65180437	65180437	G	A	TECRL	c.480C>T	NM_001010874.5	NP_001010874.2:p.(Leu160=)	NC_000004.11:g.65180437G>A	(Likely) benign	1 lab	69c40ca519
12:21377726 SLCO1B1 C>T	12	21377726	21377726	C	T	SLCO1B1	c.1818C>T	NM_006446.5	NP_006437.3:p.(Asn606=)	NC_000012.11:g.21377726C>T	(Likely) benign	1 lab	69cd1f7be1
8:19819659 LPL T>A	8	19819659	19819659	T	A	LPL	c.1356T>A	NM_000237.3	NP_000228.1:p.(His452Gln)	NC_000008.10:g.19819659T>A	(Likely) benign	1 lab	69ce704372
2:73677590 ALMS1 T>C	2	73677590	73677590	T	C	ALMS1	c.3939T>C	NM_015120.4	NP_055935.4:p.(Asn1313=)	NC_000002.11:g.73677590T>C	(Likely) benign	1 lab	69d04d189d
15:48730242 FBN1 G>A	15	48730242	48730242	G	A	FBN1	c.6164-128C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48730242G>A	(Likely) benign	1 lab	69d066a6a2
10:69966667 MYPN G>A	10	69966667	69966667	G	A	MYPN	c.3793+7G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69966667G>A	(Likely) benign	1 lab	69d18e1f8e
14:69122146 MISSING Ref too long to show for this DEL>A	14	69122146	69196884	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.69122150_69196884del	VUS	1 lab	69d412c659
X:100529159 TAF7L Ref too long to show for this DEL>C	X	100529159	100548759	Ref too long to show for this DEL	C	TAF7L				NC_000023.10:g.100529163_100548759del	VUS	1 lab	69d4ef088f
19:11224266 LDLR G>T	19	11224266	11224266	G	T	LDLR	c.1414G>T	NM_000527.5	NP_000518.1:p.(Asp472Tyr)	NC_000019.9:g.11224266G>T	(Likely) pathogenic	1 lab	69d6bbd66b
15:35084776 ACTC1 C>T	15	35084776	35084776	C	T	ACTC1	c.455-6G>A	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35084776C>T	VUS	1 lab	69d80c03c8
5:82837461 VCAN G>T	5	82837461	82837461	G	T	VCAN	c.8639G>T	NM_004385.5	NP_004376.2:p.(Ser2880Ile)	NC_000005.9:g.82837461G>T	(Likely) benign	1 lab	69d8b1c0f2
16:67977905 LCAT G>C	16	67977905	67977905	G	C	LCAT	c.100C>G	NM_000229.2	NP_000220.1:p.(Pro34Ala)	NC_000016.9:g.67977905G>C	VUS	1 lab	69d98aa84e
18:28660190 DSC2 ATCT>A	18	28660190	28660196	ATCT	A	DSC2	c.1389_1391del	NM_004949.5	NP_004940.1:p.(Glu463del)	NC_000018.9:g.28660194_28660196del	VUS	1 lab	69dabc2726
6:64430547 EYS ATTAG>A	6	64430547	64430553	ATTAG	A	EYS	c.9439_9442del	NM_001292009.2	NP_001278938.1:p.(Ile3148AsnfsTer2)	NC_000006.11:g.64430550_64430553del	(Likely) pathogenic	1 lab	69dad66474
11:8122058 TUB C>T	11	8122058	8122058	C	T	TUB	c.1290C>T	NM_003320.5	NP_003311.2:p.(Asn430=)	NC_000011.9:g.8122058C>T	(Likely) benign	1 lab	69dd908984
16:1004566 LMF1 G>A	16	1004566	1004566	G	A	LMF1	c.294C>T	NM_022773.4	NP_073610.2:p.(Phe98=)	NC_000016.9:g.1004566G>A	(Likely) benign	1 lab	69df2f06c3
2:96944689 SNRNP200 G>A	2	96944689	96944689	G	A	SNRNP200	c.5181C>T	NM_014014.5	NP_054733.2:p.(His1727=)	NC_000002.11:g.96944689G>A	(Likely) benign	1 lab	69e3ad7359
14:57268756 OTX2 A>T	14	57268756	57268756	A	T	OTX2	c.567T>A	NM_001270524.2	NP_001257453.1:p.(Tyr189Ter)	NC_000014.8:g.57268756A>T	(Likely) pathogenic	1 lab	69ef9147a9
2:179639871 TTN G>A	2	179639871	179639871	G	A	TTN	c.6567C>T	NM_133378.4	NP_596869.4:p.(Asp2189=)	NC_000002.11:g.179639871G>A	(Likely) benign	1 lab	69f1925236
19:18278000 PIK3R2 G>A	19	18278000	18278000	G	A	PIK3R2	c.1620G>A	NM_005027.4	NP_005018.2:p.(Thr540=)	NC_000019.9:g.18278000G>A	(Likely) benign	1 lab	69f3752886
11:46339011 CREB3L1 G>A	11	46339011	46339011	G	A	CREB3L1	c.1231G>A	NM_052854.4	NP_443086.1:p.(Ala411Thr)	NC_000011.9:g.46339011G>A	(Likely) benign	1 lab	69f63b454a
3:193311164 OPA1 G>A	3	193311164	193311164	G	A	OPA1	c.-3G>A	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193311164G>A	VUS	1 lab	69f67a1873
X:118708894 UBE2A C>A	X	118708894	118708894	C	A	UBE2A	c.75C>A	NM_003336.4	NP_003327.2:p.(Ser25Arg)	NC_000023.10:g.118708894C>A	(Likely) pathogenic	1 lab	69f73e3c41
2:44066262 ABCG8 G>A	2	44066262	44066262	G	A	ABCG8	c.63+7G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066262G>A	VUS	1 lab	69f7cb9821
3:52440853 BAP1 G>A	3	52440853	52440853	G	A	BAP1	c.651C>T	NM_004656.4	NP_004647.1:p.(Ala217=)	NC_000003.11:g.52440853G>A	(Likely) benign	1 lab	69fb0294bc
8:59404267 CYP7A1 G>A	8	59404267	59404267	G	A	CYP7A1	c.1282C>T	NM_000780.4	NP_000771.2:p.(Leu428Phe)	NC_000008.10:g.59404267G>A	VUS	1 lab	69fd121f2a
6:119234459 MCM9 C>A	6	119234459	119234459	C	A	MCM9	c.1030+1G>T	NM_017696.3	NP_060166.2:p.?	NC_000006.11:g.119234459C>A	VUS	1 lab	6a01670538
2:179393902 TTN A>AAGAAATTAC	2	179393902	179393905	A	AAGAAATTAC	TTN	c.106575_106576insGTAATTTCT	NM_001267550.2	NP_001254479.2:p.(Thr35525_Ser35526insValIleSer)	NC_000002.11:g.179393904_179393905insAAATTACAG	VUS	1 lab	6a01df9199
16:88497591 ZNF469 G>A	16	88497591	88497591	G	A	ZNF469	c.3713G>A	NM_001367624.2	NP_001354553.1:p.(Ser1238Asn)	NC_000016.9:g.88497591G>A	(Likely) benign	1 lab	6a02f70454
16:57012043 CETP A>G	16	57012043	57012043	A	G	CETP	c.1022A>G	NM_000078.3	NP_000069.2:p.(His341Arg)	NC_000016.9:g.57012043A>G	(Likely) benign	1 lab	6a03f92fdb
11:31254357 MISSING Ref too long to show for this DEL>A	11	31254357	31694991	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.31254358_31694991del	(Likely) pathogenic	1 lab	6a040f6fd2
14:102894593 TECPR2 G>A	14	102894593	102894593	G	A	TECPR2	c.958G>A	NM_014844.5	NP_055659.2:p.(Val320Ile)	NC_000014.8:g.102894593G>A	(Likely) benign	1 lab	6a1cc405a1
1:156838440 NTRK1 G>C	1	156838440	156838440	G	C	NTRK1	c.717+1G>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156838440G>C	(Likely) pathogenic	1 lab	6a07b08128
12:124283801 DNAH10 A>G	12	124283801	124283801	A	G	DNAH10	c.1818A>G	NM_207437.3	NP_997320.2:p.(Gln606=)	NC_000012.11:g.124283801A>G	(Likely) benign	1 lab	6a100f6940
18:29111167 DSG2 G>C	18	29111167	29111167	G	C	DSG2	c.1232G>C	NM_001943.5	NP_001934.2:p.(Gly411Ala)	NC_000018.9:g.29111167G>C	VUS	1 lab	6a1189892d
2:21246466 APOB CT>C	2	21246466	21246467	CT	C	APOB	c.2534del	NM_000384.3	NP_000375.3:p.(Gln845ArgfsTer18)	NC_000002.11:g.21246467del	(Likely) pathogenic	1 lab	6a13c65376
19:11222283 LDLR T>G	19	11222283	11222283	T	G	LDLR	c.1154T>G	NM_000527.5	NP_000518.1:p.(Leu385Arg)	NC_000019.9:g.11222283T>G	VUS	1 lab	6a14add539
9:34997070 DNAJB5 G>T	9	34997070	34997070	G	T	DNAJB5	c.1077G>T	NM_001135005.3	NP_001128477.1:p.(Val359=)	NC_000009.11:g.34997070G>T	(Likely) benign	1 lab	6a15112041
12:7170178 C1S G>T	12	7170178	7170178	G	T	C1S	c.214-16G>T	NM_201442.4	NP_958850.1:p.?	NC_000012.11:g.7170178G>T	(Likely) benign	1 lab	6a18949f77
2:179576932 TTN T>C	2	179576932	179576932	T	C	TTN	c.27625A>G	NM_001267550.2	NP_001254479.2:p.(Lys9209Glu)	NC_000002.11:g.179576932T>C	VUS	1 lab	6a18ef5f07
19:11218226 LDLR G>A	19	11218226	11218226	G	A	LDLR	c.940+36G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218226G>A	(Likely) benign	1 lab	6a1bbc9135
21:47538573 COL6A2 G>A	21	47538573	47538573	G	A	COL6A2	c.1162G>A	NM_058175.3	NP_478055.2:p.(Gly388Arg)	NC_000021.8:g.47538573G>A	VUS	1 lab	6a2120cf91
19:17991770 SLC5A5 C>T	19	17991770	17991770	C	T	SLC5A5	c.1058+8C>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17991770C>T	(Likely) benign	1 lab	6a21ab2ea6
3:14199649 XPC G>T	3	14199649	14199649	G	T	XPC	c.1734C>A	NM_004628.5	NP_004619.3:p.(Val578=)	NC_000003.11:g.14199649G>T	(Likely) benign	1 lab	6a21e55470
15:58830574 LIPC C>T	15	58830574	58830574	C	T	LIPC	c.131C>T	NM_000236.3	NP_000227.2:p.(Thr44Met)	NC_000015.9:g.58830574C>T	(Likely) benign	1 lab	6a220a9b1d
2:24920568 NCOA1 G>A	2	24920568	24920568	G	A	NCOA1	c.850G>A	NM_001362950.1	NP_001349879.1:p.(Gly284Ser)	NC_000002.11:g.24920568G>A	VUS	1 lab	6a23a435d2
15:58830559 LIPC T>C	15	58830559	58830559	T	C	LIPC	c.116T>C	NM_000236.3	NP_000227.2:p.(Val39Ala)	NC_000015.9:g.58830559T>C	VUS	1 lab	6a23b19c90
3:14183242 TMEM43 C>G	3	14183242	14183242	C	G	TMEM43	c.1150C>G	NM_024334.3	NP_077310.1:p.(Leu384Val)	NC_000003.11:g.14183242C>G	VUS	1 lab	6a2418d4a9
9:107547847 ABCA1 A>G	9	107547847	107547847	A	G	ABCA1	c.6475T>C	NM_005502.4	NP_005493.2:p.(Phe2159Leu)	NC_000009.11:g.107547847A>G	VUS	1 lab	6a25aa38cb
8:133882059 TG C>T	8	133882059	133882059	C	T	TG	c.262C>T	NM_003235.5	NP_003226.4:p.(Arg88Trp)	NC_000008.10:g.133882059C>T	VUS	1 lab	6a2c612b26
1:193202291 CDC73 T>C	1	193202291	193202291	T	C	CDC73	c.1316+7T>C	NM_024529.5	NP_078805.3:p.?	NC_000001.10:g.193202291T>C	(Likely) benign	1 lab	6a2dca3c88
8:10465608 RP1L1 T>C	8	10465608	10465608	T	C	RP1L1	c.6000A>G	NM_178857.6	NP_849188.4:p.(Val2000=)	NC_000008.10:g.10465608T>C	(Likely) benign	1 lab	6a30574b94
2:179613463 TTN C>T	2	179613463	179613463	C	T	TTN	c.13664G>A	NM_133379.5	NP_596870.2:p.(Ser4555Asn)	NC_000002.11:g.179613463C>T	(Likely) benign	1 lab	6a33654d74
19:54973870 MISSING C>T	19	54973870	54973870	C	T	MISSING				NC_000019.9:g.54973870C>T	VUS	1 lab	6ad6b6f560
6:100838560 SIM1 T>A	6	100838560	100838560	T	A	SIM1	c.1978A>T	NM_005068.3	NP_005059.2:p.(Ser660Cys)	NC_000006.11:g.100838560T>A	VUS	1 lab	6a3625d6c4
19:11238762 LDLR G>C	19	11238762	11238762	G	C	LDLR	c.2389+1G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238762G>C	(Likely) pathogenic	1 lab	6a3760c31d
3:136192440 STAG1 T>C	3	136192440	136192440	T	C	STAG1	c.1066A>G	NM_005862.3	NP_005853.2:p.(Ser356Gly)	NC_000003.11:g.136192440T>C	VUS	1 lab	6a3788bbeb
15:35082608 ACTC1 G>C	15	35082608	35082608	G	C	ACTC1	c.*5C>G	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35082608G>C	(Likely) benign	1 lab	6a3aab6c9f
20:8737740 PLCB1 G>A	20	8737740	8737740	G	A	PLCB1	c.2571G>A	NM_182734.3	NP_877398.1:p.(Thr857=)	NC_000020.10:g.8737740G>A	(Likely) benign	1 lab	6a3b176e06
1:53793543 LRP8 C>A	1	53793543	53793543	C	A	LRP8	c.42G>T	NM_004631.5	NP_004622.2:p.(Leu14=)	NC_000001.10:g.53793543C>A	(Likely) benign	1 lab	6a3d9b4be9
6:31996279 C4B C>T	6	31996279	31996279	C	T	C4B	c.3200C>T	NM_001002029.4	NP_001002029.3:p.(Ala1067Val)	NC_000006.11:g.31996279C>T	VUS	1 lab	6a3e6e4ea1
16:15821015 MYH11 A>ACAG	16	15821015	15821018	A	ACAG	MYH11	c.3673-107_3673-105dup	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15821016_15821018dup	(Likely) benign	1 lab	6a3e6f62e9
2:44102394 ABCG8 T>G	2	44102394	44102394	T	G	ABCG8	c.1598T>G	NM_022437.3	NP_071882.1:p.(Leu533Arg)	NC_000002.11:g.44102394T>G	VUS	1 lab	6a3f27a2c9
16:87902671 SLC7A5 T>C	16	87902671	87902671	T	C	SLC7A5	c.358A>G	NM_003486.7	NP_003477.4:p.(Met120Val)	NC_000016.9:g.87902671T>C	VUS	1 lab	6a3f61a8df
16:8729036 MISSING C>Alt too long to show for this DUP	16	8729036	8925978	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.8729039_8925978dup	VUS	1 lab	6a445d2c1d
9:130605533 ENG G>C	9	130605533	130605533	G	C	ENG	c.68-9C>G	NM_001114753.3	NP_001108225.1:p.?	NC_000009.11:g.130605533G>C	(Likely) benign	1 lab	6a446d02f5
12:21327840 SLCO1B1 AC>A	12	21327840	21327841	AC	A	SLCO1B1	c.359+198del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327841del	(Likely) benign	1 lab	6a46197047
20:61566 MISSING Ref too long to show for this DEL>C	20	61566	1715448	Ref too long to show for this DEL	C	MISSING				NC_000020.10:g.61569_1715448del	(Likely) pathogenic	1 lab	6a48aa7484
1:55509574 PCSK9 C>G	1	55509574	55509574	C	G	PCSK9	c.266C>G	NM_174936.4	NP_777596.2:p.(Ser89Trp)	NC_000001.10:g.55509574C>G	(Likely) benign	1 lab	6a4ab57c4f
8:38271466 FGFR1 C>T	8	38271466	38271466	C	T	FGFR1	c.2232G>A	NM_001174064.2	NP_001167535.1:p.(Leu744=)	NC_000008.10:g.38271466C>T	(Likely) benign	1 lab	6a5196f455
6:32032629 TNXB G>A	6	32032629	32032629	G	A	TNXB	c.6810C>T	NM_019105.8	NP_061978.6:p.(Arg2270=)	NC_000006.11:g.32032629G>A	(Likely) benign	1 lab	6a53de8672
22:38373911 SOX10 G>C	22	38373911	38373911	G	C	SOX10	c.660C>G	NM_006941.4	NP_008872.1:p.(Gly220=)	NC_000022.10:g.38373911G>C	(Likely) benign	1 lab	6a5620c8b4
11:116706563 APOA1 G>GCTCAGGAAGCTGACCTTGAAGCTC	11	116706563	116706587	G	GCTCAGGAAGCTGACCTTGAAGCTC	APOA1	c.414_437dup	NM_001318021.1	NP_001304950.1:p.(Leu145_Ser146insArgSerPheLysValSerPheLeu)	NC_000011.9:g.116706564_116706587dup	VUS	1 lab	6a5717c84f
10:103827177 HPS6 G>A	10	103827177	103827177	G	A	HPS6	c.1946G>A	NM_024747.6	NP_079023.2:p.(Trp649Ter)	NC_000010.10:g.103827177G>A	(Likely) pathogenic	1 lab	6a58813142
6:32489754 HLA-DRB5 TG>T	6	32489754	32489755	TG	T	HLA-DRB5	c.297del	NM_002125.4	NP_002116.2:p.(Asp99GlufsTer30)	NC_000006.11:g.32489755del	(Likely) benign	1 lab	6a5d868cc3
11:68115349 LRP5 C>T	11	68115349	68115349	C	T	LRP5	c.126C>T	NM_002335.4	NP_002326.2:p.(Asp42=)	NC_000011.9:g.68115349C>T	(Likely) benign	1 lab	6a5f37bd46
11:118516533 PHLDB1 T>A	11	118516533	118516533	T	A	PHLDB1	c.3497T>A	NM_001144758.3	NP_001138230.1:p.(Met1166Lys)	NC_000011.9:g.118516533T>A	(Likely) benign	1 lab	6a6181ecb2
6:39812198 DAAM2 Ref too long to show for this DEL>T	6	39812198	39842773	Ref too long to show for this DEL	T	DAAM2	c.-56-11823_1163-333del	NM_001201427.2	NP_001188356.1:p.?	NC_000006.11:g.39812200_39842773del	(Likely) pathogenic	1 lab	6a694e4902
2:1500545 TPO C>G	2	1500545	1500545	C	G	TPO	c.2386+8C>G	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1500545C>G	(Likely) benign	1 lab	6a6e5cb4fb
17:63221481 RGS9 G>C	17	63221481	63221481	G	C	RGS9	c.1769G>C	NM_003835.4	NP_003826.2:p.(Cys590Ser)	NC_000017.10:g.63221481G>C	VUS	1 lab	6a72172321
X:135279019 FHL1 G>C	X	135279019	135279019	G	C	FHL1	c.58G>C	NM_001159701.2	NP_001153173.1:p.(Ala20Pro)	NC_000023.10:g.135279019G>C	VUS	1 lab	6a7358b936
12:50498420 GPD1 G>A	12	50498420	50498420	G	A	GPD1	c.105G>A	NM_005276.4	NP_005267.2:p.(Arg35=)	NC_000012.11:g.50498420G>A	(Likely) benign	1 lab	6a742199d4
6:75899457 COL12A1 T>C	6	75899457	75899457	T	C	COL12A1	c.469A>G	NM_004370.6	NP_004361.3:p.(Lys157Glu)	NC_000006.11:g.75899457T>C	VUS	1 lab	6a744aea96
5:140957189 DIAPH1 A>AAT	5	140957189	140957193	A	AAT	DIAPH1	c.1164-33_1164-32dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140957192_140957193dup	(Likely) benign	1 lab	6a776cb82d
2:44051196 ABCG5 G>T	2	44051196	44051196	G	T	ABCG5	c.1180C>A	NM_022436.3	NP_071881.1:p.(Leu394Met)	NC_000002.11:g.44051196G>T	VUS	1 lab	6a77be8d81
1:207793239 CR1 T>C	1	207793239	207793239	T	C	CR1	c.7081T>C	NM_000651.6	NP_000642.3:p.(Phe2361Leu)	NC_000001.10:g.207793239T>C	VUS	1 lab	6a7b093b5e
8:158045 MISSING Ref too long to show for this DEL>C	8	158045	3936904	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158048_3936904del	(Likely) pathogenic	1 lab	6a7bdd4e92
9:123373486 MEGF9 Ref too long to show for this DEL>C	9	123373486	123389640	Ref too long to show for this DEL	C	MEGF9	c.804-4606_1087+1187del	NM_001080497.3	NP_001073966.2:p.?	NC_000009.11:g.123373488_123389640del	VUS	1 lab	6a7d82b38e
8:144898695 PUF60 CAG>C	8	144898695	144898701	CAG	C	PUF60	c.1673_1674del	NM_078480.3	NP_510965.1:p.(Ser558CysfsTer21)	NC_000008.10:g.144898700_144898701del	(Likely) pathogenic	1 lab	6a7f814d04
17:10432950 MYH2 C>T	17	10432950	10432950	C	T	MYH2	c.3048G>A	NM_001100112.2	NP_001093582.1:p.(Leu1016=)	NC_000017.10:g.10432950C>T	(Likely) benign	1 lab	6a80b5a664
8:19822613 LPL GC>G	8	19822613	19822614	GC	G	LPL	c.1428-207del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822614del	(Likely) benign	1 lab	6a84fcb03c
13:32929384 BRCA2 C>G	13	32929384	32929384	C	G	BRCA2	c.7394C>G	NM_000059.4	NP_000050.3:p.(Ala2465Gly)	NC_000013.10:g.32929384C>G	(Likely) benign	1 lab	6a865afb4d
6:7584572 DSP C>T	6	7584572	7584572	C	T	DSP	c.7077C>T	NM_004415.4	NP_004406.2:p.(Ile2359=)	NC_000006.11:g.7584572C>T	(Likely) benign	1 lab	6a8700045f
8:92352613 SLC26A7 A>G	8	92352613	92352613	A	G	SLC26A7	c.879-19A>G	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92352613A>G	(Likely) benign	1 lab	6a87fcc062
2:47387989 CALM2 CAAAA>C	2	47387989	47388013	CAAAA	C	CALM2	c.422-50_422-47del	NM_001743.6	NP_001734.1:p.?	NC_000002.11:g.47388010_47388013del	(Likely) benign	1 lab	6a8ac002ab
11:2549199 KCNQ1 C>T	11	2549199	2549199	C	T	KCNQ1	c.428C>T	NM_000218.3	NP_000209.2:p.(Ser143Phe)	NC_000011.9:g.2549199C>T	(Likely) pathogenic	1 lab	6a8d4355b3
9:21864550 MISSING Ref too long to show for this DEL>T	9	21864550	24835639	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.21864553_24835639del	(Likely) pathogenic	1 lab	6a93d8c926
6:73017058 RIMS1 C>T	6	73017058	73017058	C	T	RIMS1	c.3948C>T	NM_014989.6	NP_055804.2:p.(Arg1316=)	NC_000006.11:g.73017058C>T	(Likely) benign	1 lab	6a94740243
1:224621676 WDR26 G>A	1	224621676	224621676	G	A	WDR26	c.132C>T	NM_001115113.3	NP_001108585.2:p.(Pro44=)	NC_000001.10:g.224621676G>A	(Likely) benign	1 lab	6a9617f6de
2:21227276 APOB G>A	2	21227276	21227276	G	A	APOB	c.11952C>T	NM_000384.3	NP_000375.3:p.(Thr3984=)	NC_000002.11:g.21227276G>A	(Likely) benign	1 lab	6a97a362e5
4:126240141 FAT4 C>T	4	126240141	126240141	C	T	FAT4	c.2575C>T	NM_001291303.3	NP_001278232.1:p.(Gln859Ter)	NC_000004.11:g.126240141C>T	(Likely) pathogenic	1 lab	6a981f347c
17:26875017 UNC119 G>A	17	26875017	26875017	G	A	UNC119	c.437C>T	NM_054035.2	NP_473376.1:p.(Thr146Met)	NC_000017.10:g.26875017G>A	VUS	1 lab	6a98b71b11
8:19819213 LPL CAAAAA>C	8	19819213	19819224	CAAAAA	C	LPL	c.1323-406_1323-402del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819220_19819224del	(Likely) benign	1 lab	6a99a94e32
X:49081260 CACNA1F G>A	X	49081260	49081260	G	A	CACNA1F	c.1873C>T	NM_005183.4	NP_005174.2:p.(Arg625Ter)	NC_000023.10:g.49081260G>A	(Likely) pathogenic	1 lab	6a9b04a245
2:179413452 TTN-AS1 G>A	2	179413452	179413452	G	A	TTN-AS1	n.2043+6364G>A	NR_038272.1		NC_000002.11:g.179413452G>A	(Likely) benign	1 lab	6a9be002a8
19:7620501 PNPLA6 C>T	19	7620501	7620501	C	T	PNPLA6	c.2975C>T	NM_001166111.2	NP_001159583.1:p.(Ser992Leu)	NC_000019.9:g.7620501C>T	(Likely) benign	1 lab	6a9c29daf2
16:70292995 AARS1 G>A	16	70292995	70292995	G	A	AARS1	c.1880C>T	NM_001605.3	NP_001596.2:p.(Ser627Leu)	NC_000016.9:g.70292995G>A	(Likely) pathogenic	1 lab	6aa0939078
15:85401632 ALPK3 G>A	15	85401632	85401632	G	A	ALPK3	c.3663G>A	NM_020778.5	NP_065829.4:p.(Ala1221=)	NC_000015.9:g.85401632G>A	(Likely) benign	1 lab	6aa379d11e
19:11224041 LDLR A>T	19	11224041	11224041	A	T	LDLR	c.1274A>T	NM_000527.5	NP_000518.1:p.(Asn425Ile)	NC_000019.9:g.11224041A>T	(Likely) pathogenic	1 lab	6aa7aa3e1d
14:51027013 ATL1 T>C	14	51027013	51027013	T	C	ATL1	c.30T>C	NM_001127713.1	NP_001121185.1:p.(Ser10=)	NC_000014.8:g.51027013T>C	(Likely) benign	1 lab	6aa8ba0ad1
16:67976602 LCAT G>A	16	67976602	67976602	G	A	LCAT	c.495C>T	NM_000229.2	NP_000220.1:p.(Ala165=)	NC_000016.9:g.67976602G>A	(Likely) benign	1 lab	6aad2c3143
17:15142851 PMP22 G>A	17	15142851	15142851	G	A	PMP22	c.256C>T	NM_000304.4	NP_000295.1:p.(Gln86Ter)	NC_000017.10:g.15142851G>A	(Likely) pathogenic	1 lab	6aad580c7c
15:22669049 MISSING T>Alt too long to show for this DUP	15	22669049	23066837	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22669052_23066837dup	VUS	1 lab	6aaff6eb18
10:90701142 ACTA2 C>T	10	90701142	90701142	C	T	ACTA2	c.460G>A	NM_001613.4	NP_001604.1:p.(Val154Met)	NC_000010.10:g.90701142C>T	VUS	1 lab	6ab214f7e2
6:32024678 TNXB C>T	6	32024678	32024678	C	T	TNXB	c.7828G>A	NM_019105.8	NP_061978.6:p.(Asp2610Asn)	NC_000006.11:g.32024678C>T	VUS	1 lab	6ab35cd732
17:14069976 MISSING Ref too long to show for this DEL>T	17	14069976	15494787	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14069978_15494787del	(Likely) pathogenic	1 lab	6ab5879b6d
14:105415587 AHNAK2 G>A	14	105415587	105415587	G	A	AHNAK2	c.6201C>T	NM_138420.4	NP_612429.2:p.(Leu2067=)	NC_000014.8:g.105415587G>A	(Likely) benign	1 lab	6aefb50790
2:27603323 ZNF513 GCCCCTGA>G	2	27603323	27603339	GCCCCTGA	G	ZNF513	c.55+9_55+15del	NM_144631.6	NP_653232.3:p.?	NC_000002.11:g.27603333_27603339del	(Likely) benign	1 lab	6abc6436c9
20:13053035 SPTLC3 A>G	20	13053035	13053035	A	G	SPTLC3	c.435A>G	NM_018327.4	NP_060797.2:p.(Ser145=)	NC_000020.10:g.13053035A>G	(Likely) benign	1 lab	6abcb1515d
17:6374512 PITPNM3 C>T	17	6374512	6374512	C	T	PITPNM3	c.1593G>A	NM_031220.4	NP_112497.2:p.(Ser531=)	NC_000017.10:g.6374512C>T	(Likely) benign	1 lab	6abfb42d84
2:179454677 TTN T>C	2	179454677	179454677	T	C	TTN	c.61775A>G	NM_001267550.2	NP_001254479.2:p.(Asn20592Ser)	NC_000002.11:g.179454677T>C	VUS	1 lab	6ac1a9edb3
X:135590016 HTATSF1 C>Alt too long to show for this DUP	X	135590016	135594626	C	Alt too long to show for this DUP	HTATSF1				NC_000023.10:g.135590017_135594626dup	VUS	1 lab	6ac2502541
10:75849952 VCL A>C	10	75849952	75849952	A	C	VCL	c.1348A>C	NM_014000.3	NP_054706.1:p.(Arg450=)	NC_000010.10:g.75849952A>C	(Likely) benign	1 lab	6ac2bae209
1:74818951 TNNI3K G>A	1	74818951	74818951	G	A	TNNI3K	c.934G>A	NM_015978.3	NP_057062.1:p.(Ala312Thr)	NC_000001.10:g.74818951G>A	VUS	1 lab	6ace1ac66a
12:40757201 LRRK2 T>C	12	40757201	40757201	T	C	LRRK2	c.7029-3T>C	NM_198578.4	NP_940980.4:p.?	NC_000012.11:g.40757201T>C	(Likely) benign	1 lab	6ad12bbc65
8:19819600 LPL A>G	8	19819600	19819600	A	G	LPL	c.1323-26A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819600A>G	(Likely) benign	1 lab	6ad36a1bff
7:33312730 BBS9 G>C	7	33312730	33312730	G	C	BBS9	c.809G>C	NM_198428.3	NP_940820.1:p.(Cys270Ser)	NC_000007.13:g.33312730G>C	VUS	1 lab	6ad5b0eadd
2:179443963 TTN A>G	2	179443963	179443963	A	G	TTN	c.67794T>C	NM_001267550.2	NP_001254479.2:p.(Ser22598=)	NC_000002.11:g.179443963A>G	(Likely) benign	1 lab	6ad5c99f12
11:61725599 BEST1 A>ATCCTCC	11	61725599	61725614	A	ATCCTCC	BEST1	c.535-9_535-4dup	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61725609_61725614dup	(Likely) benign	1 lab	6ad5ed5929
14:23894137 MYH7 C>T	14	23894137	23894137	C	T	MYH7	c.2520G>A	NM_000257.4	NP_000248.2:p.(Leu840=)	NC_000014.8:g.23894137C>T	(Likely) benign	1 lab	6ad81b171b
1:33236985 NHSL3 A>C	1	33236985	33236985	A	C	NHSL3	c.2205A>C	NM_020888.3	NP_065939.2:p.(Pro735=)	NC_000001.10:g.33236985A>C	(Likely) benign	1 lab	6ad8f22388
10:13154486 OPTN G>A	10	13154486	13154486	G	A	OPTN	c.403G>A	NM_001008211.1	NP_001008212.1:p.(Glu135Lys)	NC_000010.10:g.13154486G>A	(Likely) benign	1 lab	6adbcb5f66
2:179664535 TTN A>G	2	179664535	179664535	A	G	TTN	c.669+17T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179664535A>G	(Likely) benign	1 lab	6adc18a7dd
16:68835623 CDH1 G>A	16	68835623	68835623	G	A	CDH1	c.214G>A	NM_004360.5	NP_004351.1:p.(Asp72Asn)	NC_000016.9:g.68835623G>A	(Likely) benign	1 lab	6add26299b
10:69881937 MYPN G>A	10	69881937	69881937	G	A	MYPN	c.742G>A	NM_032578.4	NP_115967.2:p.(Gly248Arg)	NC_000010.10:g.69881937G>A	VUS	1 lab	6ae11f3167
10:85961590 CDHR1 C>T	10	85961590	85961590	C	T	CDHR1	c.553C>T	NM_033100.4	NP_149091.1:p.(Arg185Cys)	NC_000010.10:g.85961590C>T	VUS	1 lab	6ae24152a8
2:179616219 TTN C>A	2	179616219	179616219	C	A	TTN	c.10908G>T	NM_133379.5	NP_596870.2:p.(Arg3636Ser)	NC_000002.11:g.179616219C>A	(Likely) benign	1 lab	6ae28b02f0
15:85401539 ALPK3 G>A	15	85401539	85401539	G	A	ALPK3	c.3570G>A	NM_020778.5	NP_065829.4:p.(Thr1190=)	NC_000015.9:g.85401539G>A	(Likely) benign	1 lab	6af09ce7cc
12:133201531 POLE C>T	12	133201531	133201531	C	T	POLE	c.6707G>A	NM_006231.4	NP_006222.2:p.(Cys2236Tyr)	NC_000012.11:g.133201531C>T	(Likely) benign	1 lab	6af18b18a7
9:33143741 MISSING A>Alt too long to show for this DUP	9	33143741	33255317	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.33143742_33255317dup	(Likely) pathogenic	1 lab	6af455e3f7
14:105179950 INF2 C>G	14	105179950	105179950	C	G	INF2	c.3040+7C>G	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105179950C>G	(Likely) benign	1 lab	6af640cfa2
19:11223947 LDLR C>A	19	11223947	11223947	C	A	LDLR	c.1187-7C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223947C>A	VUS	1 lab	6af65c3832
2:189874652 COL3A1 A>G	2	189874652	189874652	A	G	COL3A1	c.3824-252A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189874652A>G	(Likely) benign	1 lab	6afa0644b7
19:51869246 MISSING Ref too long to show for this DEL>T	19	51869246	51900354	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.51869248_51900354del	VUS	1 lab	6afe97b504
17:60023944 MED13 T>C	17	60023944	60023944	T	C	MED13	c.6410A>G	NM_005121.3	NP_005112.2:p.(Tyr2137Cys)	NC_000017.10:g.60023944T>C	VUS	1 lab	6afeaea872
14:88459444 GALC C>G	14	88459444	88459444	C	G	GALC	c.65G>C	NM_000153.4	NP_000144.2:p.(Gly22Ala)	NC_000014.8:g.88459444C>G	VUS	1 lab	6aff068efd
9:107568207 ABCA1 G>A	9	107568207	107568207	G	A	ABCA1	c.4464+315C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568207G>A	(Likely) benign	1 lab	6aff608835
8:19818427 LPL A>T	8	19818427	19818427	A	T	LPL	c.1155A>T	NM_000237.3	NP_000228.1:p.(Thr385=)	NC_000008.10:g.19818427A>T	(Likely) benign	1 lab	6b00e2212b
9:4064986 MISSING T>Alt too long to show for this DUP	9	4064986	4680407	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.4064988_4680407dup	VUS	1 lab	6b5ef8b021
3:123382883 MYLK G>A	3	123382883	123382883	G	A	MYLK	c.3985+69C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123382883G>A	(Likely) benign	1 lab	6b0225b596
1:74808542 TNNI3K T>C	1	74808542	74808542	T	C	TNNI3K	c.699T>C	NM_015978.3	NP_057062.1:p.(Asn233=)	NC_000001.10:g.74808542T>C	(Likely) benign	1 lab	6b03af7898
3:69054266 EOGT A>AT	3	69054266	69054267	A	AT	EOGT	c.515+24dup	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69054267dup	(Likely) benign	1 lab	6b03bf125d
14:67044276 GPHN Ref too long to show for this DEL>A	14	67044276	67137173	Ref too long to show for this DEL	A	GPHN	c.64+68969_65-10652del	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67044278_67137173del	VUS	1 lab	6b09272df9
18:10752666 PIEZO2 C>T	18	10752666	10752666	C	T	PIEZO2	c.4060G>A	NM_022068.4	NP_071351.2:p.(Val1354Ile)	NC_000018.9:g.10752666C>T	(Likely) benign	1 lab	6b0ad51487
12:125267331 SCARB1 A>G	12	125267331	125267331	A	G	SCARB1	c.1428T>C	NM_001367989.1	NP_001354918.1:p.(Ser476=)	NC_000012.11:g.125267331A>G	(Likely) benign	1 lab	6b0c2859c1
16:941902 LMF1 G>T	16	941902	941902	G	T	LMF1	c.330+1105C>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.941902G>T	(Likely) benign	1 lab	6b0c9f306a
11:65639730 EFEMP2 C>T	11	65639730	65639730	C	T	EFEMP2	c.96G>A	NM_016938.5	NP_058634.4:p.(Glu32=)	NC_000011.9:g.65639730C>T	(Likely) benign	1 lab	6b10e98cff
18:53177774 TCF4 G>C	18	53177774	53177774	G	C	TCF4	c.146-46406C>G	NM_001243228.2	NP_001230157.1:p.?	NC_000018.9:g.53177774G>C	(Likely) benign	1 lab	6b116dda4c
2:179571581 TTN GC>G	2	179571581	179571582	GC	G	TTN	c.29134+7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179571582del	(Likely) benign	1 lab	6b5612566d
9:70918670 FOXD4L3 T>C	9	70918670	70918670	T	C	FOXD4L3	c.803T>C	NM_199135.4	NP_954586.4:p.(Leu268Pro)	NC_000009.11:g.70918670T>C	(Likely) benign	1 lab	6b16ea8334
8:62555454 ASPH C>T	8	62555454	62555454	C	T	ASPH	c.783G>A	NM_004318.4	NP_004309.2:p.(Glu261=)	NC_000008.10:g.62555454C>T	(Likely) benign	1 lab	6b19967809
1:236900427 ACTN2 GAC>G	1	236900427	236900430	GAC	G	ACTN2	c.791_792del	NM_001103.4	NP_001094.1:p.(Thr264SerfsTer3)	NC_000001.10:g.236900429_236900430del	(Likely) pathogenic	1 lab	6b2221e0ff
2:21230985 APOB T>C	2	21230985	21230985	T	C	APOB	c.8755A>G	NM_000384.3	NP_000375.3:p.(Ile2919Val)	NC_000002.11:g.21230985T>C	VUS	1 lab	6b24455eae
8:75275287 GDAP1 A>T	8	75275287	75275287	A	T	GDAP1	c.693A>T	NM_018972.4	NP_061845.2:p.(Pro231=)	NC_000008.10:g.75275287A>T	(Likely) benign	1 lab	6b246e4285
1:173879833 SERPINC1 G>A	1	173879833	173879833	G	A	SERPINC1	c.821C>T	NM_001386302.1	NP_001373231.1:p.(Pro274Leu)	NC_000001.10:g.173879833G>A	(Likely) benign	1 lab	6b4f845792
5:79950781 MSH3 A>G	5	79950781	79950781	A	G	MSH3	c.235A>G	NM_002439.5	NP_002430.3:p.(Ile79Val)	NC_000005.9:g.79950781A>G	(Likely) benign	1 lab	6d1aa9352e
2:179615431 TTN C>T	2	179615431	179615431	C	T	TTN	c.11696G>A	NM_133379.5	NP_596870.2:p.(Arg3899Lys)	NC_000002.11:g.179615431C>T	VUS	1 lab	6b2a7cf0d0
11:17523040 USH1C G>T	11	17523040	17523040	G	T	USH1C	c.2269C>A	NM_153676.4	NP_710142.1:p.(Arg757Ser)	NC_000011.9:g.17523040G>T	VUS	1 lab	6b2dad12d6
6:32018111 TNXB G>A	6	32018111	32018111	G	A	TNXB	c.9110-13C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32018111G>A	(Likely) benign	1 lab	6b2f237761
3:184045072 EIF4G1 G>A	3	184045072	184045072	G	A	EIF4G1	c.3500G>A	NM_182917.4	NP_886553.3:p.(Arg1167Gln)	NC_000003.11:g.184045072G>A	(Likely) benign	1 lab	6b300ebdfe
1:22181262 HSPG2 G>A	1	22181262	22181262	G	A	HSPG2	c.6137-4C>T	NM_001291860.2	NP_001278789.1:p.?	NC_000001.10:g.22181262G>A	(Likely) benign	1 lab	6b3832ecfc
5:95759020 PCSK1 G>T	5	95759020	95759020	G	T	PCSK1	c.540C>A	NM_000439.5	NP_000430.3:p.(Asn180Lys)	NC_000005.9:g.95759020G>T	VUS	1 lab	6b3e244953
17:1582188 PRPF8 C>CA	17	1582188	1582194	C	CA	PRPF8	c.1600-14dup	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1582194dup	(Likely) benign	1 lab	6b4022d704
16:88500137 ZNF469 G>A	16	88500137	88500137	G	A	ZNF469	c.6259G>A	NM_001367624.2	NP_001354553.1:p.(Ala2087Thr)	NC_000016.9:g.88500137G>A	(Likely) benign	1 lab	6b4070c385
11:2869032 KCNQ1 C>T	11	2869032	2869032	C	T	KCNQ1	c.1830C>T	NM_000218.3	NP_000209.2:p.(Thr610=)	NC_000011.9:g.2869032C>T	(Likely) benign	1 lab	6b41ecb051
16:1004061 LMF1 A>C	16	1004061	1004061	A	C	LMF1	c.-52+296T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004061A>C	(Likely) benign	1 lab	6b4486e38d
X:70442743 GJB1 C>T	X	70442743	70442743	C	T	GJB1	c.-16-799C>T	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442743C>T	(Likely) pathogenic	1 lab	6b44d46231
17:58740498 PPM1D C>G	17	58740498	58740498	C	G	PPM1D	c.1403C>G	NM_003620.4	NP_003611.1:p.(Ser468Ter)	NC_000017.10:g.58740498C>G	(Likely) pathogenic	1 lab	6b4502397b
16:1591962 IFT140 G>A	16	1591962	1591962	G	A	IFT140	c.2400-15165C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1591962G>A	(Likely) benign	1 lab	6b46730b0f
2:179659708 TTN C>T	2	179659708	179659708	C	T	TTN	c.1186G>A	NM_001267550.2	NP_001254479.2:p.(Ala396Thr)	NC_000002.11:g.179659708C>T	VUS	1 lab	6b47340735
1:237813317 RYR2 T>TTTCATA	1	237813317	237813318	T	TTTCATA	RYR2	c.7653_7654insTTCATA	NM_001035.3	NP_001026.2:p.(Thr2551_Val2552insPheIle)	NC_000001.10:g.237813317_237813318insTTCATA	(Likely) pathogenic	1 lab	6b4c74269f
3:46480817 LTF T>C	3	46480817	46480817	T	C	LTF	c.1878A>G	NM_002343.6	NP_002334.2:p.(Glu626=)	NC_000003.11:g.46480817T>C	(Likely) benign	1 lab	6d286800a4
19:55663298 TNNI3 G>A	19	55663298	55663298	G	A	TNNI3	c.550-13C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55663298G>A	(Likely) benign	1 lab	6b51f1237f
6:32632592 HLA-DQB1 C>G	6	32632592	32632592	C	G	HLA-DQB1	c.362G>C	NM_001243961.2	NP_001230890.1:p.(Gly121Ala)	NC_000006.11:g.32632592C>G	(Likely) benign	1 lab	6b57633498
14:58897412 KIAA0586 TAGAAG>T	14	58897412	58897421	TAGAAG	T	KIAA0586	c.322_326del	NM_001329944.2	NP_001316873.1:p.(Glu108GlnfsTer7)	NC_000014.8:g.58897417_58897421del	(Likely) pathogenic	1 lab	6b580b1724
20:44520579 CTSA C>G	20	44520579	44520579	C	G	CTSA	c.219C>G	NM_001127695.2	NP_001121167.1:p.(Pro73=)	NC_000020.10:g.44520579C>G	(Likely) benign	1 lab	6b592ba798
11:44193158 EXT2 T>A	11	44193158	44193158	T	A	EXT2	c.1267-66T>A	NM_001178083.3	NP_001171554.1:p.?	NC_000011.9:g.44193158T>A	(Likely) benign	1 lab	6b593dfd9e
3:195974401 PCYT1A C>G	3	195974401	195974401	C	G	PCYT1A	c.335-12G>C	NM_005017.4	NP_005008.2:p.?	NC_000003.11:g.195974401C>G	(Likely) benign	1 lab	6b5afd8134
1:12024681 PLOD1 G>A	1	12024681	12024681	G	A	PLOD1	c.1329-20G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12024681G>A	(Likely) benign	1 lab	6b5cbb1e4a
2:189871984 COL3A1 A>G	2	189871984	189871984	A	G	COL3A1	c.3256-242A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871984A>G	(Likely) benign	1 lab	6b5d75850b
22:21058847 MISSING C>Alt too long to show for this DUP	22	21058847	21505417	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21058848_21505417dup	(Likely) pathogenic	1 lab	6b5eb7bf5a
2:21239298 APOB C>T	2	21239298	21239298	C	T	APOB	c.3332+13G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239298C>T	(Likely) benign	1 lab	6b5f50b89a
11:47368727 MYBPC3 C>T	11	47368727	47368727	C	T	MYBPC3	c.906-147G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368727C>T	(Likely) benign	1 lab	6b5fa894a5
2:74590408 DCTN1 G>A	2	74590408	74590408	G	A	DCTN1	c.3345+13C>T	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74590408G>A	(Likely) benign	1 lab	6b661bed69
12:50500130 GPD1 C>T	12	50500130	50500130	C	T	GPD1	c.420C>T	NM_005276.4	NP_005267.2:p.(Leu140=)	NC_000012.11:g.50500130C>T	(Likely) benign	1 lab	6b66495993
9:107579651 ABCA1 C>T	9	107579651	107579651	C	T	ABCA1	c.3497G>A	NM_005502.4	NP_005493.2:p.(Gly1166Asp)	NC_000009.11:g.107579651C>T	VUS	1 lab	6b66f722fc
3:89433366 MISSING T>Alt too long to show for this DUP	3	89433366	89796097	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.89433370_89796097dup	VUS	1 lab	6b6902102a
14:23899102 MYH7 G>T	14	23899102	23899102	G	T	MYH7	c.1020C>A	NM_000257.4	NP_000248.2:p.(Gly340=)	NC_000014.8:g.23899102G>T	(Likely) benign	1 lab	6b6955412e
15:58834792 LIPC C>T	15	58834792	58834792	C	T	LIPC	c.516C>T	NM_000236.3	NP_000227.2:p.(His172=)	NC_000015.9:g.58834792C>T	(Likely) benign	1 lab	6b69f50889
3:30692215 TGFBR2 G>A	3	30692215	30692215	G	A	TGFBR2	c.529+263G>A	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30692215G>A	(Likely) benign	1 lab	6b6b814d8c
16:2112998 TSC2 A>G	16	2112998	2112998	A	G	TSC2	c.1387A>G	NM_000548.5	NP_000539.2:p.(Ile463Val)	NC_000016.9:g.2112998A>G	(Likely) benign	1 lab	6b818f7b31
1:94526106 ABCA4 G>A	1	94526106	94526106	G	A	ABCA4	c.2147C>T	NM_000350.3	NP_000341.2:p.(Thr716Met)	NC_000001.10:g.94526106G>A	VUS	1 lab	6b73094160
2:21230410 APOB A>G	2	21230410	21230410	A	G	APOB	c.9330T>C	NM_000384.3	NP_000375.3:p.(Ile3110=)	NC_000002.11:g.21230410A>G	(Likely) benign	1 lab	6b7503cebd
10:13167493 OPTN CAA>C	10	13167493	13167498	CAA	C	OPTN	c.1078_1079del	NM_001008211.1	NP_001008212.1:p.(Lys360ValfsTer18)	NC_000010.10:g.13167497_13167498del	(Likely) pathogenic	1 lab	6b781d8fb8
1:55517957 PCSK9 G>A	1	55517957	55517957	G	A	PCSK9	c.530G>A	NM_174936.4	NP_777596.2:p.(Gly177Asp)	NC_000001.10:g.55517957G>A	VUS	1 lab	6b7d612a0e
1:201334318 TNNT2 C>T	1	201334318	201334318	C	T	TNNT2	c.381+1G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201334318C>T	VUS	1 lab	6b7e3f6039
8:606449 MISSING C>Alt too long to show for this DUP	8	606449	1099986	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.606451_1099986dup	VUS	1 lab	6b805eccac
1:216144128 USH2A T>C	1	216144128	216144128	T	C	USH2A	c.6806-10A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216144128T>C	(Likely) benign	1 lab	6b8185d6cd
2:219679346 CYP27A1 C>T	2	219679346	219679346	C	T	CYP27A1	c.1342C>T	NM_000784.4	NP_000775.1:p.(Arg448Cys)	NC_000002.11:g.219679346C>T	VUS	1 lab	6b84b85217
5:132866868 MISSING Ref too long to show for this DEL>A	5	132866868	138014352	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.132866869_138014352del	(Likely) pathogenic	1 lab	6b8b25359c
2:179586698 TTN T>A	2	179586698	179586698	T	A	TTN	c.22692A>T	NM_001267550.2	NP_001254479.2:p.(Thr7564=)	NC_000002.11:g.179586698T>A	(Likely) benign	1 lab	6b911f985a
11:128460246 MISSING Ref too long to show for this DEL>A	11	128460246	134938471	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.128460248_134938471del	(Likely) pathogenic	1 lab	6b93e6c64d
6:110087924 FIG4 T>A	6	110087924	110087924	T	A	FIG4	c.1584-8T>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110087924T>A	(Likely) benign	1 lab	6b94ba8f8d
12:49578947 TUBA1A T>C	12	49578947	49578947	T	C	TUBA1A	c.1202A>G	NM_006009.4	NP_006000.2:p.(Lys401Arg)	NC_000012.11:g.49578947T>C	(Likely) pathogenic	1 lab	6b96658bca
4:106345468 PPA2 A>T	4	106345468	106345468	A	T	PPA2	c.540T>A	NM_176869.3	NP_789845.1:p.(Cys180Ter)	NC_000004.11:g.106345468A>T	VUS	1 lab	6b98c7e76a
9:107599681 ABCA1 AGGGAGTCTT>A	9	107599681	107599693	AGGGAGTCTT	A	ABCA1	c.1194+19_1194+27del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599685_107599693del	(Likely) benign	1 lab	6b98e912fb
20:10620138 JAG1 G>A	20	10620138	10620138	G	A	JAG1	c.*8C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10620138G>A	(Likely) benign	1 lab	6b9d07523e
19:11238818 LDLR C>T	19	11238818	11238818	C	T	LDLR	c.2389+57C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238818C>T	(Likely) benign	1 lab	6ba6e5da05
8:6377433 ANGPT2 C>T	8	6377433	6377433	C	T	ANGPT2	c.882G>A	NM_001147.3	NP_001138.1:p.(Thr294=)	NC_000008.10:g.6377433C>T	(Likely) benign	1 lab	6bd1acb32f
18:21140203 NPC1 C>A	18	21140203	21140203	C	A	NPC1	c.873G>T	NM_000271.5	NP_000262.2:p.(Trp291Cys)	NC_000018.9:g.21140203C>A	VUS	1 lab	6ba8fbad14
16:71481889 MISSING G>Alt too long to show for this DUP	16	71481889	71592620	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71481890_71592620dup	VUS	1 lab	6baa365ed7
2:44101099 ABCG8 A>G	2	44101099	44101099	A	G	ABCG8	c.1385A>G	NM_022437.3	NP_071882.1:p.(Asn462Ser)	NC_000002.11:g.44101099A>G	(Likely) benign	1 lab	6bac235ce6
1:859862 SAMD11 T>C	1	859862	859862	T	C	SAMD11	c.51T>C	NM_001385640.1	NP_001372569.1:p.(Ala17=)	NC_000001.10:g.859862T>C	(Likely) benign	1 lab	6bb14adfc0
5:127710332 FBN2 C>T	5	127710332	127710332	C	T	FBN2	c.2084G>A	NM_001999.4	NP_001990.2:p.(Arg695His)	NC_000005.9:g.127710332C>T	VUS	1 lab	6bb4821314
5:82835724 VCAN T>A	5	82835724	82835724	T	A	VCAN	c.6902T>A	NM_004385.5	NP_004376.2:p.(Phe2301Tyr)	NC_000005.9:g.82835724T>A	(Likely) benign	1 lab	6bb5520cd0
14:23863422 MYH6 G>A	14	23863422	23863422	G	A	MYH6	c.2540C>T	NM_002471.4	NP_002462.2:p.(Thr847Met)	NC_000014.8:g.23863422G>A	VUS	1 lab	6bb890edd2
2:179412986 TTN C>G	2	179412986	179412986	C	G	TTN	c.93367G>C	NM_001267550.2	NP_001254479.2:p.(Val31123Leu)	NC_000002.11:g.179412986C>G	(Likely) benign	1 lab	6bba061c5f
1:25893927 LDLRAP1 AT>A	1	25893927	25893932	AT	A	LDLRAP1	c.*449del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893932del	(Likely) benign	1 lab	6bbc102b71
12:69354694 MISSING Ref too long to show for this DEL>A	12	69354694	69430304	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.69354696_69430304del	VUS	1 lab	6bbf499b9b
6:16129540 MYLIP C>G	6	16129540	16129540	C	G	MYLIP	c.-14C>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129540C>G	VUS	1 lab	6bc577c067
10:92678748 ANKRD1 AAT>A	10	92678748	92678773	AAT	A	ANKRD1	c.346-21_346-20del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678772_92678773del	(Likely) benign	1 lab	6bc7eae82c
12:2788699 CACNA1C G>A	12	2788699	2788699	G	A	CACNA1C	c.5181G>A	NM_001167623.2	NP_001161095.1:p.(Pro1727=)	NC_000012.11:g.2788699G>A	(Likely) benign	1 lab	6bc9aa72bc
19:50775804 MYH14 C>T	19	50775804	50775804	C	T	MYH14	c.3296-13C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50775804C>T	(Likely) benign	1 lab	6bca467b03
20:42744526 JPH2 A>AGGGCGC	20	42744526	42744534	A	AGGGCGC	JPH2	c.1783_1788dup	NM_020433.5	NP_065166.2:p.(Ala595_Pro596dup)	NC_000020.10:g.42744529_42744534dup	(Likely) benign	1 lab	6bcb2ceb8f
5:90074264 ADGRV1 C>T	5	90074264	90074264	C	T	ADGRV1	c.12687C>T	NM_032119.4	NP_115495.3:p.(Pro4229=)	NC_000005.9:g.90074264C>T	(Likely) benign	1 lab	6bcbbec8b9
9:91953366 SECISBP2 G>A	9	91953366	91953366	G	A	SECISBP2	c.886-7G>A	NM_001282690.1	NP_001269619.1:p.?	NC_000009.11:g.91953366G>A	(Likely) benign	1 lab	6bcd006f49
2:21264702 APOB C>T	2	21264702	21264702	C	T	APOB	c.237+531G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21264702C>T	(Likely) benign	1 lab	6bcd744b28
2:183032961 PDE1A T>Alt too long to show for this DUP	2	183032961	183066325	T	Alt too long to show for this DUP	PDE1A	c.1005-38_1516+17657dup	NM_001363871.4	NP_001350800.1:p.?	NC_000002.11:g.183032963_183066325dup	VUS	1 lab	6bce7d54ca
19:2058538 MISSING T>Alt too long to show for this DUP	19	2058538	2414127	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.2058540_2414127dup	VUS	1 lab	6da6e853dd
X:148827857 MISSING Ref too long to show for this DEL>T	X	148827857	148859994	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.148827859_148859994del	VUS	1 lab	6bd5ae56ef
2:179639171 TTN G>C	2	179639171	179639171	G	C	TTN	c.6820C>G	NM_133378.4	NP_596869.4:p.(Gln2274Glu)	NC_000002.11:g.179639171G>C	VUS	1 lab	6bdd386f5e
10:97697492 CC2D2B Ref too long to show for this DEL>A	10	97697492	97752744	Ref too long to show for this DEL	A	CC2D2B	c.337-255_2642+290del	NM_001349008.3	NP_001335937.1:p.?	NC_000010.10:g.97697493_97752744del	VUS	1 lab	6bde0c90cb
3:78695352 ROBO1 C>T	3	78695352	78695352	C	T	ROBO1	c.2705-12G>A	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78695352C>T	(Likely) benign	1 lab	6be26d56fa
12:547534 MISSING C>Alt too long to show for this DUP	12	547534	739488	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.547536_739488dup	VUS	1 lab	6be42f927d
12:20905250 SLCO1C1 C>T	12	20905250	20905250	C	T	SLCO1C1	c.2030C>T	NM_001145946.2	NP_001139418.1:p.(Ser677Phe)	NC_000012.11:g.20905250C>T	(Likely) benign	1 lab	6be69f55cc
3:58112488 FLNB C>T	3	58112488	58112488	C	T	FLNB	c.4221C>T	NM_001164317.2	NP_001157789.1:p.(Pro1407=)	NC_000003.11:g.58112488C>T	(Likely) benign	1 lab	6be9066e0a
16:16284244 ABCC6 G>A	16	16284244	16284244	G	A	ABCC6	c.1090-20C>T	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16284244G>A	(Likely) benign	1 lab	6be994ccf7
14:23885488 MYH7 G>A	14	23885488	23885488	G	A	MYH7	c.4678C>T	NM_000257.4	NP_000248.2:p.(Arg1560Trp)	NC_000014.8:g.23885488G>A	VUS	1 lab	6beb54444e
11:89531801 TRIM49 CAAA>C	11	89531801	89531816	CAAA	C	TRIM49	c.860-7_860-5del	NM_020358.2	NP_065091.1:p.?	NC_000011.9:g.89531814_89531816del	(Likely) benign	1 lab	6bed320b7c
11:47372960 MYBPC3 C>CG	11	47372960	47372961	C	CG	MYBPC3	c.121dup	NM_000256.3	NP_000247.2:p.(Arg41ProfsTer8)	NC_000011.9:g.47372961dup	(Likely) pathogenic	1 lab	6c06011e68
10:100023 MISSING Ref too long to show for this DEL>T	10	100023	412213	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.100026_412213del	(Likely) pathogenic	1 lab	6bedd44495
2:179480016 TTN G>A	2	179480016	179480016	G	A	TTN	c.48638+18C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480016G>A	(Likely) benign	1 lab	6bf36e91e6
16:77398121 ADAMTS18 T>C	16	77398121	77398121	T	C	ADAMTS18	c.936A>G	NM_199355.4	NP_955387.1:p.(Gly312=)	NC_000016.9:g.77398121T>C	(Likely) benign	1 lab	6bf55981c6
19:11218152 LDLR A>G	19	11218152	11218152	A	G	LDLR	c.902A>G	NM_000527.5	NP_000518.1:p.(Asp301Gly)	NC_000019.9:g.11218152A>G	(Likely) pathogenic	1 lab	6bf575373d
4:100533101 MTTP C>A	4	100533101	100533101	C	A	MTTP	c.1989+491C>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100533101C>A	(Likely) benign	1 lab	6bf6b369d9
2:44051148 ABCG5 T>G	2	44051148	44051148	T	G	ABCG5	c.1228A>C	NM_022436.3	NP_071881.1:p.(Asn410His)	NC_000002.11:g.44051148T>G	(Likely) benign	1 lab	6bf755deb6
2:21266368 APOB A>C	2	21266368	21266368	A	C	APOB	c.121+17T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266368A>C	(Likely) benign	1 lab	6bf7e7323e
16:921179 LMF1 G>A	16	921179	921179	G	A	LMF1	c.661C>T	NM_001352018.2	NP_001338947.1:p.(Arg221Trp)	NC_000016.9:g.921179G>A	(Likely) benign	1 lab	6bfd80d543
2:73717126 ALMS1 G>T	2	73717126	73717126	G	T	ALMS1	c.8043G>T	NM_015120.4	NP_055935.4:p.(Leu2681=)	NC_000002.11:g.73717126G>T	(Likely) benign	1 lab	6bfe975013
17:34893558 PIGW T>G	17	34893558	34893558	T	G	PIGW	c.608T>G	NM_178517.5	NP_848612.2:p.(Leu203Trp)	NC_000017.10:g.34893558T>G	VUS	1 lab	6bff4b80b8
16:88502572 ZNF469 C>T	16	88502572	88502572	C	T	ZNF469	c.8694C>T	NM_001367624.2	NP_001354553.1:p.(Gly2898=)	NC_000016.9:g.88502572C>T	(Likely) benign	1 lab	6c01363012
1:10364221 KIF1B A>G	1	10364221	10364221	A	G	KIF1B	c.2978A>G	NM_183416.4	NP_904325.2:p.(Asp993Gly)	NC_000001.10:g.10364221A>G	VUS	1 lab	6c0206e38f
7:16676082 ANKMY2 T>TA	7	16676082	16676096	T	TA	ANKMY2	c.68-3dup	NM_020319.3	NP_064715.1:p.?	NC_000007.13:g.16676096dup	(Likely) benign	1 lab	6c025ae358
8:55372092 SOX17 G>GC	8	55372092	55372098	G	GC	SOX17	c.788dup	NM_022454.4	NP_071899.1:p.(Glu264GlyfsTer101)	NC_000008.10:g.55372098dup	(Likely) pathogenic	1 lab	6c0303510e
12:52309875 ACVRL1 G>A	12	52309875	52309875	G	A	ACVRL1	c.1104G>A	NM_000020.3	NP_000011.2:p.(Pro368=)	NC_000012.11:g.52309875G>A	(Likely) benign	1 lab	6c03848241
19:45409902 APOE G>C	19	45409902	45409902	G	C	APOE	c.99G>C	NM_001302688.2	NP_001289617.1:p.(Ala33=)	NC_000019.9:g.45409902G>C	(Likely) benign	1 lab	6c085a7782
15:58860957 LIPC C>T	15	58860957	58860957	C	T	LIPC	c.1431C>T	NM_000236.3	NP_000227.2:p.(Arg477=)	NC_000015.9:g.58860957C>T	(Likely) benign	1 lab	6c0d4264a5
11:1463790 BRSK2 A>G	11	1463790	1463790	A	G	BRSK2	c.484A>G	NM_001256627.2	NP_001243556.1:p.(Met162Val)	NC_000011.9:g.1463790A>G	VUS	1 lab	6c0e391874
8:19817401 LPL A>G	8	19817401	19817401	A	G	LPL	c.1139+510A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817401A>G	(Likely) benign	1 lab	6c0f535a84
6:7572467 DSP C>T	6	7572467	7572467	C	T	DSP	c.2130+166C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572467C>T	(Likely) benign	1 lab	6c0fc085db
1:235543478 TBCE GTGT>G	1	235543478	235543481	GTGT	G	TBCE	c.100+15_100+17del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543479_235543481del	(Likely) benign	1 lab	6c112af5a5
3:126137916 CFAP100 T>C	3	126137916	126137916	T	C	CFAP100	c.651-3T>C	NM_182628.3	NP_872434.2:p.?	NC_000003.11:g.126137916T>C	(Likely) benign	1 lab	6c1486d7ed
5:82841476 VCAN T>C	5	82841476	82841476	T	C	VCAN	c.9379+7T>C	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82841476T>C	(Likely) benign	1 lab	6c17aa22bb
7:23588870 MISSING T>Alt too long to show for this DUP	7	23588870	23629876	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.23588871_23629876dup	VUS	1 lab	6c1a5c451d
10:68936716 CTNNA3 G>A	10	68936716	68936716	G	A	CTNNA3	c.1047+3359C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68936716G>A	(Likely) benign	1 lab	6c1afb17e3
16:23647143 PALB2 A>C	16	23647143	23647143	A	C	PALB2	c.724T>G	NM_024675.4	NP_078951.2:p.(Phe242Val)	NC_000016.9:g.23647143A>C	(Likely) benign	1 lab	6c1d8d71de
8:42868455 HOOK3 C>CT	8	42868455	42868469	C	CT	HOOK3	c.1945-3dup	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42868469dup	(Likely) benign	1 lab	6c1da8d3ce
4:100512412 MTTP T>C	4	100512412	100512412	T	C	MTTP	c.522T>C	NM_000253.4	NP_000244.2:p.(Cys174=)	NC_000004.11:g.100512412T>C	(Likely) benign	1 lab	6c3582c13e
4:71472164 AMBN T>C	4	71472164	71472164	T	C	AMBN	c.1061T>C	NM_016519.6	NP_057603.1:p.(Leu354Pro)	NC_000004.11:g.71472164T>C	(Likely) benign	1 lab	6c24c2103e
1:202735634 KDM5B T>TA	1	202735634	202735647	T	TA	KDM5B	c.712-3dup	NM_001314042.1	NP_001300971.1:p.?	NC_000001.10:g.202735647dup	(Likely) benign	1 lab	6c27e85d75
2:189864790 COL3A1 G>A	2	189864790	189864790	G	A	COL3A1	c.2283+169G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864790G>A	(Likely) benign	1 lab	6c2a4a07f7
12:25380279 KRAS C>T	12	25380279	25380279	C	T	KRAS	c.179G>A	NM_033360.4	NP_203524.1:p.(Gly60Asp)	NC_000012.11:g.25380279C>T	(Likely) pathogenic	1 lab	6c2b8e49e5
12:102025925 MYBPC1 G>A	12	102025925	102025925	G	A	MYBPC1	c.556+9G>A	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102025925G>A	(Likely) benign	1 lab	6c2cea9277
X:118603873 SLC25A5 G>T	X	118603873	118603873	G	T	SLC25A5	c.361G>T	NM_001152.5	NP_001143.2:p.(Gly121Cys)	NC_000023.10:g.118603873G>T	(Likely) benign	1 lab	6c2d55d814
5:137222990 MYOT G>T	5	137222990	137222990	G	T	MYOT	c.1413G>T	NM_006790.3	NP_006781.1:p.(Leu471Phe)	NC_000005.9:g.137222990G>T	VUS	1 lab	6c2e6a0339
15:48782186 FBN1 A>T	15	48782186	48782186	A	T	FBN1	c.2944T>A	NM_000138.5	NP_000129.3:p.(Cys982Ser)	NC_000015.9:g.48782186A>T	(Likely) pathogenic	1 lab	6c341d39f1
21:27071005 JAM2 A>G	21	27071005	27071005	A	G	JAM2	c.411A>G	NM_021219.4	NP_067042.1:p.(Pro137=)	NC_000021.8:g.27071005A>G	(Likely) benign	1 lab	6c357ceffb
19:54301492 NLRP12 Ref too long to show for this DEL>C	19	54301492	54322013	Ref too long to show for this DEL	C	NLRP12	c.290-3770_2927+4del	NM_144687.4	NP_653288.1:p.?	NC_000019.9:g.54301494_54322013del	VUS	1 lab	6c368b4fa3
12:1963098 CACNA2D4 C>A	12	1963098	1963098	C	A	CACNA2D4	c.2246+19G>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1963098C>A	(Likely) benign	1 lab	6c37945e57
9:133942488 LAMC3 A>G	9	133942488	133942488	A	G	LAMC3	c.2489A>G	NM_006059.4	NP_006050.3:p.(His830Arg)	NC_000009.11:g.133942488A>G	(Likely) benign	1 lab	6c38a1de78
2:25464535 DNMT3A A>AG	2	25464535	25464536	A	AG	DNMT3A	c.1977dup	NM_022552.5	NP_072046.2:p.(Tyr660LeufsTer8)	NC_000002.11:g.25464536dup	(Likely) pathogenic	1 lab	6c3aa63de5
7:111642644 MISSING G>Alt too long to show for this DUP	7	111642644	111857154	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.111642646_111857154dup	VUS	1 lab	6c3c8b2d09
13:96377524 DNAJC3 T>G	13	96377524	96377524	T	G	DNAJC3	c.393+18T>G	NM_006260.5	NP_006251.1:p.?	NC_000013.10:g.96377524T>G	VUS	1 lab	6c3ce49c87
11:116702004 APOC3 CT>C	11	116702004	116702007	CT	C	APOC3	c.179+395del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702007del	(Likely) benign	1 lab	6c453ee899
16:84067023 SLC38A8 G>A	16	84067023	84067023	G	A	SLC38A8	c.440C>T	NM_001080442.3	NP_001073911.1:p.(Ala147Val)	NC_000016.9:g.84067023G>A	(Likely) benign	1 lab	6c471663b7
12:50497872 GPD1 C>T	12	50497872	50497872	C	T	GPD1	c.39C>T	NM_005276.4	NP_005267.2:p.(Asn13=)	NC_000012.11:g.50497872C>T	(Likely) benign	1 lab	6c4cbe043f
11:102201937 BIRC3 AG>A	11	102201937	102201939	AG	A	BIRC3	c.1291del	NM_001165.5	NP_001156.1:p.(Glu431ArgfsTer16)	NC_000011.9:g.102201939del	(Likely) pathogenic	1 lab	6c4e1b651d
1:248436996 OR2T33 A>C	1	248436996	248436996	A	C	OR2T33	c.121T>G	NM_001004695.2	NP_001004695.1:p.(Ser41Ala)	NC_000001.10:g.248436996A>C	(Likely) benign	1 lab	6c4e5b3d29
11:47361205 MYBPC3 C>T	11	47361205	47361205	C	T	MYBPC3	c.2064G>A	NM_000256.3	NP_000247.2:p.(Thr688=)	NC_000011.9:g.47361205C>T	(Likely) benign	1 lab	6c503a6aa1
2:21232895 APOB G>C	2	21232895	21232895	G	C	APOB	c.6845C>G	NM_000384.3	NP_000375.3:p.(Ala2282Gly)	NC_000002.11:g.21232895G>C	VUS	1 lab	6c526f393c
2:179588411 TTN A>T	2	179588411	179588411	A	T	TTN	c.21416T>A	NM_001267550.2	NP_001254479.2:p.(Phe7139Tyr)	NC_000002.11:g.179588411A>T	VUS	1 lab	6c53ae1ad1
2:179441812 TTN G>A	2	179441812	179441812	G	A	TTN	c.69250C>T	NM_001267550.2	NP_001254479.2:p.(Arg23084Ter)	NC_000002.11:g.179441812G>A	(Likely) pathogenic	1 lab	6c571b4722
2:105979821 FHL2 G>A	2	105979821	105979821	G	A	FHL2	c.609C>T	NM_001318895.3	NP_001305824.1:p.(Arg203=)	NC_000002.11:g.105979821G>A	(Likely) benign	1 lab	6c57edc892
1:25880446 LDLRAP1 C>T	1	25880446	25880446	C	T	LDLRAP1	c.122C>T	NM_015627.3	NP_056442.2:p.(Thr41Met)	NC_000001.10:g.25880446C>T	VUS	1 lab	6c594146ea
2:179642175 TTN A>C	2	179642175	179642175	A	C	TTN	c.4617T>G	NM_133378.4	NP_596869.4:p.(Ser1539=)	NC_000002.11:g.179642175A>C	(Likely) benign	1 lab	6c5941e5e2
3:62074 MISSING Ref too long to show for this DEL>T	3	62074	2218784	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.62075_2218784del	(Likely) pathogenic	1 lab	6c5b652768
6:7578729 DSP A>G	6	7578729	7578729	A	G	DSP	c.3018A>G	NM_004415.4	NP_004406.2:p.(Leu1006=)	NC_000006.11:g.7578729A>G	(Likely) benign	1 lab	6c5f9c2427
16:88494017 ZNF469 G>A	16	88494017	88494017	G	A	ZNF469	c.139G>A	NM_001367624.2	NP_001354553.1:p.(Gly47Ser)	NC_000016.9:g.88494017G>A	(Likely) benign	1 lab	6c65005278
15:45392391 DUOX2 G>A	15	45392391	45392391	G	A	DUOX2	c.3041C>T	NM_014080.5	NP_054799.4:p.(Ala1014Val)	NC_000015.9:g.45392391G>A	VUS	1 lab	6c6842cf49
22:50682205 TUBGCP6 G>A	22	50682205	50682205	G	A	TUBGCP6	c.684C>T	NM_020461.4	NP_065194.3:p.(Val228=)	NC_000022.10:g.50682205G>A	(Likely) benign	1 lab	6c6a95c454
8:19811816 LPL T>A	8	19811816	19811816	T	A	LPL	c.727T>A	NM_000237.3	NP_000228.1:p.(Cys243Ser)	NC_000008.10:g.19811816T>A	(Likely) pathogenic	1 lab	6c6b73e7ab
5:133948331 SAR1B TAAAAAAAAAAAAAA>T	5	133948331	133948371	TAAAAAAAAAAAAAA	T	SAR1B	c.244+36_244+49del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948358_133948371del	(Likely) benign	1 lab	6c6d76ac27
6:32050061 TNXB C>T	6	32050061	32050061	C	T	TNXB	c.3488G>A	NM_019105.8	NP_061978.6:p.(Gly1163Glu)	NC_000006.11:g.32050061C>T	(Likely) benign	1 lab	6c6da40f99
3:186583907 MISSING G>Alt too long to show for this DUP	3	186583907	186714058	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.186583908_186714058dup	VUS	1 lab	6c6e2e1672
6:112454538 LAMA4 G>A	6	112454538	112454538	G	A	LAMA4	c.3696+13C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112454538G>A	(Likely) benign	1 lab	6c704a9b32
17:60650622 TLK2 C>T	17	60650622	60650622	C	T	TLK2	c.1015C>T	NM_001284333.3	NP_001271262.1:p.(Arg339Trp)	NC_000017.10:g.60650622C>T	(Likely) pathogenic	1 lab	6c7246c523
2:179501224 TTN G>T	2	179501224	179501224	G	T	TTN	c.41230C>A	NM_001267550.2	NP_001254479.2:p.(His13744Asn)	NC_000002.11:g.179501224G>T	VUS	1 lab	6c78d67acd
11:63403671 ATL3 A>AT	11	63403671	63403672	A	AT	ATL3	c.978+7dup	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63403672dup	(Likely) benign	1 lab	6c7c5ddab3
9:107561675 ABCA1 T>TCACA	9	107561675	107561717	T	TCACA	ABCA1	c.4943+421_4943+424dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561714_107561717dup	(Likely) benign	1 lab	6c7cee5e6b
15:85411665 ALPK3 C>A	15	85411665	85411665	C	A	ALPK3	c.5096C>A	NM_020778.5	NP_065829.4:p.(Ser1699Tyr)	NC_000015.9:g.85411665C>A	VUS	1 lab	6c7f746456
10:95381842 PDE6C C>T	10	95381842	95381842	C	T	PDE6C	c.864+13C>T	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95381842C>T	(Likely) benign	1 lab	6c82faa31f
8:100866267 VPS13B C>T	8	100866267	100866267	C	T	VPS13B	c.10725C>T	NM_017890.5	NP_060360.3:p.(His3575=)	NC_000008.10:g.100866267C>T	(Likely) benign	1 lab	6c84ab1007
11:10820663 EIF4G2 TA>T	11	10820663	10820680	TA	T	EIF4G2	c.2537-4del	NM_001172705.1	NP_001166176.1:p.?	NC_000011.9:g.10820680del	(Likely) benign	1 lab	6c8e81976f
2:220286217 DES C>T	2	220286217	220286217	C	T	DES	c.1179C>T	NM_001927.4	NP_001918.3:p.(Asn393=)	NC_000002.11:g.220286217C>T	(Likely) benign	1 lab	6c91100b81
5:157070557 MISSING C>Alt too long to show for this DUP	5	157070557	157106632	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.157070558_157106632dup	VUS	1 lab	6c941e227c
11:47360573 MYBPC3 A>C	11	47360573	47360573	A	C	MYBPC3	c.2148+302T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360573A>C	(Likely) benign	1 lab	6c98dfeb7d
2:189898962 COL5A2 T>C	2	189898962	189898962	T	C	COL5A2	c.4354-20A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189898962T>C	(Likely) benign	1 lab	6cd2f6b2c6
19:50750395 MYH14 G>A	19	50750395	50750395	G	A	MYH14	c.1329+16G>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50750395G>A	(Likely) benign	1 lab	6ca077aa78
2:1488614 TPO T>C	2	1488614	1488614	T	C	TPO	c.1585T>C	NM_000547.6	NP_000538.3:p.(Leu529=)	NC_000002.11:g.1488614T>C	(Likely) benign	1 lab	6ca803c1de
13:110825117 COL4A1 C>A	13	110825117	110825117	C	A	COL4A1	c.3506G>T	NM_001845.6	NP_001836.3:p.(Gly1169Val)	NC_000013.10:g.110825117C>A	(Likely) pathogenic	1 lab	6cab703c04
7:121753214 AASS T>A	7	121753214	121753214	T	A	AASS	c.1236A>T	NM_005763.4	NP_005754.2:p.(Thr412=)	NC_000007.13:g.121753214T>A	(Likely) benign	1 lab	6cacc5a789
2:21242019 APOB T>C	2	21242019	21242019	T	C	APOB	c.3000-34A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242019T>C	(Likely) benign	1 lab	6cb492dee0
6:44862676 SUPT3H Ref too long to show for this DEL>T	6	44862676	45040889	Ref too long to show for this DEL	T	SUPT3H	c.186+32771_912+37713del	NM_003599.4	NP_003590.1:p.?	NC_000006.11:g.44862678_45040889del	VUS	1 lab	6cb603884c
8:144295890 GPIHBP1 T>C	8	144295890	144295890	T	C	GPIHBP1	c.181+65T>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295890T>C	(Likely) benign	1 lab	6cb67ea729
6:51882323 PKHD1 GCT>G	6	51882323	51882327	GCT	G	PKHD1	c.5483_5484del	NM_138694.4	NP_619639.3:p.(Glu1828AlafsTer4)	NC_000006.11:g.51882326_51882327del	(Likely) pathogenic	1 lab	6cb724d584
20:10621899 JAG1 C>T	20	10621899	10621899	C	T	JAG1	c.2917-7G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10621899C>T	(Likely) benign	1 lab	6cb8b8b327
7:128415554 OPN1SW G>A	7	128415554	128415554	G	A	OPN1SW	c.282C>T	NM_001385125.1	NP_001372054.1:p.(Asn94=)	NC_000007.13:g.128415554G>A	(Likely) benign	1 lab	6cb923d4a7
11:19206490 CSRP3 A>G	11	19206490	19206490	A	G	CSRP3	c.508+9T>C	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19206490A>G	(Likely) benign	1 lab	6cb993f379
9:107623760 ABCA1 C>T	9	107623760	107623760	C	T	ABCA1	c.543+200G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623760C>T	(Likely) benign	1 lab	6cbab0d3d7
2:179644804 TTN A>G	2	179644804	179644804	A	G	TTN	c.3652T>C	NM_001267550.2	NP_001254479.2:p.(Tyr1218His)	NC_000002.11:g.179644804A>G	VUS	1 lab	6cbb2f2adf
1:6534132 PLEKHG5 C>T	1	6534132	6534132	C	T	PLEKHG5	c.532G>A	NM_198681.4	NP_941374.3:p.(Gly178Arg)	NC_000001.10:g.6534132C>T	VUS	1 lab	6cbcbdfda3
X:70444019 GJB1 T>A	X	70444019	70444019	T	A	GJB1	c.462T>A	NM_000166.6	NP_000157.1:p.(Tyr154Ter)	NC_000023.10:g.70444019T>A	(Likely) pathogenic	1 lab	6cbe2641ec
15:40707612 IVD G>A	15	40707612	40707612	G	A	IVD	c.891G>A	NM_002225.5	NP_002216.3:p.(Ala297=)	NC_000015.9:g.40707612G>A	(Likely) benign	1 lab	6cbf9a8633
15:25800028 MISSING A>Alt too long to show for this DUP	15	25800028	26210930	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.25800029_26210930dup	VUS	1 lab	6cc25b8098
5:95728710 PCSK1 T>G	5	95728710	95728710	T	G	PCSK1	c.2257A>C	NM_000439.5	NP_000430.3:p.(Asn753His)	NC_000005.9:g.95728710T>G	(Likely) benign	1 lab	6ccbeeb050
6:32023903 TNXB G>C	6	32023903	32023903	G	C	TNXB	c.8192C>G	NM_019105.8	NP_061978.6:p.(Pro2731Arg)	NC_000006.11:g.32023903G>C	(Likely) benign	1 lab	6ccc1a5007
3:170216501 SLC7A14 C>G	3	170216501	170216501	C	G	SLC7A14	c.714G>C	NM_020949.3	NP_066000.2:p.(Gly238=)	NC_000003.11:g.170216501C>G	(Likely) benign	1 lab	6cd3e19727
3:148903120 CP C>G	3	148903120	148903120	C	G	CP	c.2191G>C	NM_000096.4	NP_000087.2:p.(Glu731Gln)	NC_000003.11:g.148903120C>G	(Likely) benign	1 lab	6cd6125cca
19:38968367 RYR1 G>C	19	38968367	38968367	G	C	RYR1	c.4311G>C	NM_000540.3	NP_000531.2:p.(Arg1437Ser)	NC_000019.9:g.38968367G>C	VUS	1 lab	6cd6304a7c
6:7574798 DSP G>A	6	7574798	7574798	G	A	DSP	c.2298-92G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574798G>A	(Likely) benign	1 lab	6cdba98c3b
8:55542765 RP1 T>G	8	55542765	55542765	T	G	RP1	c.6323T>G	NM_006269.2	NP_006260.1:p.(Ile2108Ser)	NC_000008.10:g.55542765T>G	VUS	1 lab	6cdca58b14
12:20864451 SLCO1C1 T>A	12	20864451	20864451	T	A	SLCO1C1	c.529+7T>A	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20864451T>A	(Likely) benign	1 lab	6cdf34b6d7
2:217426530 MISSING T>Alt too long to show for this DUP	2	217426530	217519187	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.217426532_217519187dup	VUS	1 lab	6ce4d56b38
1:45269627 MISSING Ref too long to show for this DEL>C	1	45269627	45365834	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.45269628_45365834del	(Likely) pathogenic	1 lab	6ce5aafa2c
11:108164096 ATM T>A	11	108164096	108164096	T	A	ATM	c.4668T>A	NM_000051.4	NP_000042.3:p.(Tyr1556Ter)	NC_000011.9:g.108164096T>A	(Likely) pathogenic	1 lab	6ce61bb73e
1:197407806 CRB1 G>C	1	197407806	197407806	G	C	CRB1	c.3806+1G>C	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197407806G>C	(Likely) pathogenic	1 lab	6ce74a7d40
2:179475951 TTN C>G	2	179475951	179475951	C	G	TTN	c.50905G>C	NM_001267550.2	NP_001254479.2:p.(Gly16969Arg)	NC_000002.11:g.179475951C>G	VUS	1 lab	6ce75cead2
12:57881916 MARS1 G>C	12	57881916	57881916	G	C	MARS1	c.43G>C	NM_004990.4	NP_004981.2:p.(Val15Leu)	NC_000012.11:g.57881916G>C	VUS	1 lab	6ce890ca83
5:148427540 SH3TC2 G>A	5	148427540	148427540	G	A	SH3TC2	c.164C>T	NM_024577.4	NP_078853.2:p.(Ser55Phe)	NC_000005.9:g.148427540G>A	VUS	1 lab	6ce9c6922a
15:50546127 MISSING A>Alt too long to show for this DUP	15	50546127	50602643	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.50546128_50602643dup	VUS	1 lab	6ceb2a122b
6:124636011 NKAIN2 A>Alt too long to show for this DUP	6	124636011	124676506	A	Alt too long to show for this DUP	NKAIN2	c.192+31724_273+13dup	NM_001040214.3	NP_001035304.1:p.?	NC_000006.11:g.124636012_124676506dup	VUS	1 lab	6ced93f27c
3:100451486 TFG G>A	3	100451486	100451486	G	A	TFG	c.550G>A	NM_006070.6	NP_006061.2:p.(Ala184Thr)	NC_000003.11:g.100451486G>A	VUS	1 lab	6cf0806284
14:76165623 TTLL5 C>G	14	76165623	76165623	C	G	TTLL5	c.585+10C>G	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76165623C>G	(Likely) benign	1 lab	6cf3fff0f4
9:107582317 ABCA1 G>T	9	107582317	107582317	G	T	ABCA1	c.2994C>A	NM_005502.4	NP_005493.2:p.(Ala998=)	NC_000009.11:g.107582317G>T	(Likely) benign	1 lab	6cf97ad1bd
1:236723119 HEATR1 G>A	1	236723119	236723119	G	A	HEATR1	c.4665C>T	NM_018072.6	NP_060542.4:p.(Leu1555=)	NC_000001.10:g.236723119G>A	(Likely) benign	1 lab	6cfa7b9332
X:73960951 NEXMIF G>A	X	73960951	73960951	G	A	NEXMIF	c.3441C>T	NM_001008537.3	NP_001008537.1:p.(Val1147=)	NC_000023.10:g.73960951G>A	(Likely) benign	1 lab	6cfabd11d6
3:123691208 MISSING Ref too long to show for this DEL>T	3	123691208	123714558	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.123691211_123714558del	VUS	1 lab	6cfff7fd47
1:156843650 NTRK1 A>G	1	156843650	156843650	A	G	NTRK1	c.1076A>G	NM_002529.3	NP_002520.2:p.(Tyr359Cys)	NC_000001.10:g.156843650A>G	(Likely) pathogenic	1 lab	6d0151d677
5:178608112 ADAMTS2 G>A	5	178608112	178608112	G	A	ADAMTS2	c.936C>T	NM_014244.5	NP_055059.2:p.(Asn312=)	NC_000005.9:g.178608112G>A	(Likely) benign	1 lab	6d016f7b67
10:61829102 ANK3 A>G	10	61829102	61829102	A	G	ANK3	c.11537T>C	NM_020987.5	NP_066267.2:p.(Val3846Ala)	NC_000010.10:g.61829102A>G	(Likely) benign	1 lab	6d03600910
X:70444032 GJB1 G>A	X	70444032	70444032	G	A	GJB1	c.475G>A	NM_000166.6	NP_000157.1:p.(Gly159Ser)	NC_000023.10:g.70444032G>A	(Likely) pathogenic	1 lab	6d047a4230
6:16143339 MYLIP T>C	6	16143339	16143339	T	C	MYLIP	c.553T>C	NM_013262.4	NP_037394.2:p.(Tyr185His)	NC_000006.11:g.16143339T>C	VUS	1 lab	6d0493d870
1:8384569 SLC45A1 A>C	1	8384569	8384569	A	C	SLC45A1	c.180A>C	NM_001080397.3	NP_001073866.3:p.(Pro60=)	NC_000001.10:g.8384569A>C	(Likely) benign	1 lab	6d0878c184
18:34238168 FHOD3 C>T	18	34238168	34238168	C	T	FHOD3	c.1835+17C>T	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34238168C>T	(Likely) benign	1 lab	6d089ffa1e
13:32915334 BRCA2 G>T	13	32915334	32915334	G	T	BRCA2	c.6841+1G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32915334G>T	(Likely) pathogenic	1 lab	6d0c13fcf5
2:179544849 TTN A>G	2	179544849	179544849	A	G	TTN	c.33419-67T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544849A>G	(Likely) benign	1 lab	6d0f46106b
11:116661463 APOA5 T>C	11	116661463	116661463	T	C	APOA5	c.482A>G	NM_052968.5	NP_443200.2:p.(Gln161Arg)	NC_000011.9:g.116661463T>C	(Likely) pathogenic	1 lab	6d124bdb33
9:107549593 ABCA1 C>G	9	107549593	107549593	C	G	ABCA1	c.6205-336G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549593C>G	(Likely) benign	1 lab	6d126d9b8e
8:30954270 WRN G>T	8	30954270	30954270	G	T	WRN	c.1899-14G>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954270G>T	(Likely) benign	1 lab	6d19ae42a5
22:26859951 HPS4 T>C	22	26859951	26859951	T	C	HPS4	c.1645A>G	NM_022081.6	NP_071364.4:p.(Lys549Glu)	NC_000022.10:g.26859951T>C	(Likely) benign	1 lab	6d1b58f8eb
19:40901041 PRX T>C	19	40901041	40901041	T	C	PRX	c.3218A>G	NM_181882.3	NP_870998.2:p.(Glu1073Gly)	NC_000019.9:g.40901041T>C	(Likely) benign	1 lab	6d1cde8e7e
2:179632722 TTN G>A	2	179632722	179632722	G	A	TTN	c.9305+19C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179632722G>A	(Likely) benign	1 lab	6d1cec6c21
2:21235288 APOB G>C	2	21235288	21235288	G	C	APOB	c.4452C>G	NM_000384.3	NP_000375.3:p.(Val1484=)	NC_000002.11:g.21235288G>C	(Likely) benign	1 lab	6d20f0bba2
2:169825894 ABCB11 C>T	2	169825894	169825894	C	T	ABCB11	c.1977G>A	NM_003742.4	NP_003733.2:p.(Gln659=)	NC_000002.11:g.169825894C>T	(Likely) benign	1 lab	6d235c077f
17:2227825 TSR1 G>A	17	2227825	2227825	G	A	TSR1	c.2209C>T	NM_018128.5	NP_060598.3:p.(Arg737Trp)	NC_000017.10:g.2227825G>A	(Likely) benign	1 lab	6d23b1f6ab
1:94502906 ABCA4 C>T	1	94502906	94502906	C	T	ABCA4	c.3608G>A	NM_000350.3	NP_000341.2:p.(Gly1203Glu)	NC_000001.10:g.94502906C>T	VUS	1 lab	6d23e3c917
2:241997911 SNED1 Ref too long to show for this DEL>T	2	241997911	242016876	Ref too long to show for this DEL	T	SNED1	c.2258-4296_3916+4097del	NM_001080437.3	NP_001073906.1:p.?	NC_000002.11:g.241997912_242016876del	VUS	1 lab	6d27da5bbb
19:11213374 LDLR TGGGGGCC>T	19	11213374	11213382	TGGGGGCC	T	LDLR	c.227_233del	NM_000527.5	NP_000518.1:p.(Gly76ValfsTer128)	NC_000019.9:g.11213376_11213382del	(Likely) pathogenic	1 lab	6d27dc2f08
14:92549586 ATXN3 G>A	14	92549586	92549586	G	A	ATXN3	c.492C>T	NM_004993.6	NP_004984.2:p.(Val164=)	NC_000014.8:g.92549586G>A	(Likely) benign	1 lab	6d2de23b28
11:68678976 IGHMBP2 C>T	11	68678976	68678976	C	T	IGHMBP2	c.616C>T	NM_002180.3	NP_002171.2:p.(Gln206Ter)	NC_000011.9:g.68678976C>T	(Likely) pathogenic	1 lab	6d30cc5a16
9:35697928 TLN1 C>G	9	35697928	35697928	C	G	TLN1	c.7501-15G>C	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35697928C>G	(Likely) benign	1 lab	6d31b4a2f4
9:137642395 COL5A1 CT>C	9	137642395	137642396	CT	C	COL5A1	c.1503del	NM_000093.5	NP_000084.3:p.(Gly502AspfsTer56)	NC_000009.11:g.137642396del	(Likely) pathogenic	1 lab	6d336946fd
11:116707684 APOA1 A>G	11	116707684	116707684	A	G	APOA1	c.200+33T>C	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116707684A>G	(Likely) benign	1 lab	6d3959d184
6:126080965 HEY2 T>C	6	126080965	126080965	T	C	HEY2	c.*17T>C	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126080965T>C	(Likely) benign	1 lab	6d3b807c8e
6:123824731 TRDN A>G	6	123824731	123824731	A	G	TRDN	c.793+133T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123824731A>G	(Likely) benign	1 lab	6d3b822575
1:156848984 NTRK1 C>CA	1	156848984	156848985	C	CA	NTRK1	c.1877dup	NM_002529.4	NP_002520.2:p.(Leu627AlafsTer6)	NC_000001.10:g.156848985dup	(Likely) pathogenic	1 lab	6d3f93f5fe
9:113132270 SVEP1 C>T	9	113132270	113132270	C	T	SVEP1	c.10627G>A	NM_153366.4	NP_699197.3:p.(Gly3543Ser)	NC_000009.11:g.113132270C>T	VUS	1 lab	6d3fcddc61
11:27722585 BDNF G>A	11	27722585	27722585	G	A	BDNF	c.-489C>T	NM_001143811.2	NP_001137283.1:p.?	NC_000011.9:g.27722585G>A	(Likely) benign	1 lab	6d452de884
18:21136301 NPC1 C>T	18	21136301	21136301	C	T	NPC1	c.1232G>A	NM_000271.5	NP_000262.2:p.(Arg411Gln)	NC_000018.9:g.21136301C>T	(Likely) benign	1 lab	6d46845de0
1:63063738 ANGPTL3 T>C	1	63063738	63063738	T	C	ANGPTL3	c.495+6T>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63063738T>C	VUS	1 lab	6d4a05dee9
4:140299937 NAA15 TA>T	4	140299937	140299940	TA	T	NAA15	c.2087del	NM_057175.5	NP_476516.1:p.(Lys696ArgfsTer17)	NC_000004.11:g.140299940del	(Likely) pathogenic	1 lab	6d4f2de589
10:85974026 CDHR1 G>A	10	85974026	85974026	G	A	CDHR1	c.2229G>A	NM_033100.4	NP_149091.1:p.(Arg743=)	NC_000010.10:g.85974026G>A	(Likely) benign	1 lab	6d5234766f
2:25065170 ADCY3 G>A	2	25065170	25065170	G	A	ADCY3	c.909C>T	NM_001377128.1	NP_001364057.1:p.(Asp303=)	NC_000002.11:g.25065170G>A	(Likely) benign	1 lab	6d52cd67a1
1:236920844 ACTN2 T>A	1	236920844	236920844	T	A	ACTN2	c.1589T>A	NM_001278344.2	NP_001265273.1:p.(Val530Glu)	NC_000001.10:g.236920844T>A	VUS	1 lab	6d52cda74c
18:29122890 DSG2 A>C	18	29122890	29122890	A	C	DSG2	c.2334+75A>C	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29122890A>C	(Likely) benign	1 lab	6d551e8afa
19:11216116 LDLR T>G	19	11216116	11216116	T	G	LDLR	c.534T>G	NM_000527.5	NP_000518.1:p.(Asp178Glu)	NC_000019.9:g.11216116T>G	(Likely) pathogenic	1 lab	6d55dc5547
11:68206868 LRP5 C>T	11	68206868	68206868	C	T	LRP5	c.4349-377C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68206868C>T	(Likely) benign	1 lab	6d58597e67
17:74469960 RHBDF2 G>A	17	74469960	74469960	G	A	RHBDF2	c.1686C>T	NM_024599.5	NP_078875.4:p.(Ser562=)	NC_000017.10:g.74469960G>A	(Likely) benign	1 lab	6d5865369c
17:14087932 MISSING Ref too long to show for this DEL>T	17	14087932	15473312	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14087933_15473312del	(Likely) pathogenic	1 lab	6d5905e831
1:16475286 EPHA2 C>A	1	16475286	16475286	C	A	EPHA2	c.410G>T	NM_004431.5	NP_004422.2:p.(Arg137Leu)	NC_000001.10:g.16475286C>A	VUS	1 lab	6d59eadd81
2:21252840 APOB G>C	2	21252840	21252840	G	C	APOB	c.1400C>G	NM_000384.3	NP_000375.3:p.(Ala467Gly)	NC_000002.11:g.21252840G>C	(Likely) benign	1 lab	6d6268042d
16:67974325 LCAT T>C	16	67974325	67974325	T	C	LCAT	c.805A>G	NM_000229.2	NP_000220.1:p.(Ile269Val)	NC_000016.9:g.67974325T>C	VUS	1 lab	6d64e7467c
9:113163268 SVEP1 G>T	9	113163268	113163268	G	T	SVEP1	c.9688C>A	NM_153366.4	NP_699197.3:p.(Pro3230Thr)	NC_000009.11:g.113163268G>T	(Likely) benign	1 lab	6d66fe21d7
14:102028589 DIO3 G>T	14	102028589	102028589	G	T	DIO3	c.756G>T	NM_001362.3	NP_001353.4:p.(Ser252=)	NC_000014.8:g.102028589G>T	(Likely) benign	1 lab	6d691756fb
5:127595300 FBN2 C>T	5	127595300	127595300	C	T	FBN2	c.8586G>A	NM_001999.4	NP_001990.2:p.(Lys2862=)	NC_000005.9:g.127595300C>T	(Likely) benign	1 lab	6d6be2dc14
X:32867921 DMD A>G	X	32867921	32867921	A	G	DMD	c.98T>C	NM_004009.3	NP_004000.1:p.(Ile33Thr)	NC_000023.10:g.32867921A>G	VUS	1 lab	6d6e111ddc
9:204192 MISSING Ref too long to show for this DEL>T	9	204192	7523371	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.204193_7523371del	(Likely) pathogenic	1 lab	6d6e356fa3
22:22312923 MISSING Ref too long to show for this DEL>T	22	22312923	22570021	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.22312927_22570021del	VUS	1 lab	6d6e414cd2
2:179410704 TTN-AS1 G>A	2	179410704	179410704	G	A	TTN-AS1	n.2043+3616G>A	NR_038272.1		NC_000002.11:g.179410704G>A	(Likely) benign	1 lab	6d6ed7b506
12:21358933 SLCO1B1 G>C	12	21358933	21358933	G	C	SLCO1B1	c.1463G>C	NM_006446.5	NP_006437.3:p.(Gly488Ala)	NC_000012.11:g.21358933G>C	(Likely) benign	1 lab	6d7042536f
20:3014588 MISSING T>Alt too long to show for this DUP	20	3014588	3700890	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.3014589_3700890dup	VUS	1 lab	6d731c0d65
4:114251465 ANK2 G>T	4	114251465	114251465	G	T	ANK2	c.2964G>T	NM_001148.6	NP_001139.3:p.(Gly988=)	NC_000004.11:g.114251465G>T	(Likely) benign	1 lab	6d73aef8f1
3:62073 MISSING Ref too long to show for this DEL>A	3	62073	8788078	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.62076_8788078del	(Likely) pathogenic	1 lab	6d756c7e3a
3:123356963 MYLK C>G	3	123356963	123356963	C	G	MYLK	c.4916G>C	NM_053025.4	NP_444253.3:p.(Gly1639Ala)	NC_000003.11:g.123356963C>G	VUS	1 lab	6d75ca0644
16:49670759 ZNF423 G>A	16	49670759	49670759	G	A	ZNF423	c.2124C>T	NM_001271620.2	NP_001258549.1:p.(His708=)	NC_000016.9:g.49670759G>A	(Likely) benign	1 lab	6d7ac8f307
7:143018841 CLCN1 G>A	7	143018841	143018841	G	A	CLCN1	c.596G>A	NM_000083.3	NP_000074.3:p.(Arg199His)	NC_000007.13:g.143018841G>A	VUS	1 lab	6d7b3b8d97
2:179469794 TTN C>T	2	179469794	179469794	C	T	TTN	c.54110G>A	NM_001267550.2	NP_001254479.2:p.(Arg18037Gln)	NC_000002.11:g.179469794C>T	VUS	1 lab	6d7ea90180
10:71136821 HK1 C>A	10	71136821	71136821	C	A	HK1	c.971C>A	NM_033500.2	NP_277035.2:p.(Thr324Asn)	NC_000010.10:g.71136821C>A	VUS	1 lab	6d7f46c543
19:11226601 LDLR CA>C	19	11226601	11226619	CA	C	LDLR	c.1587-151del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226619del	(Likely) benign	1 lab	6d80cf67d7
11:68171896 LRP5 G>A	11	68171896	68171896	G	A	LRP5	c.1801+729G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68171896G>A	(Likely) benign	1 lab	6d81b8d03c
11:47358078 MYBPC3 T>C	11	47358078	47358078	T	C	MYBPC3	c.2603-516A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358078T>C	(Likely) benign	1 lab	6d87783fb8
6:99328457 FBXL4 T>G	6	99328457	99328457	T	G	FBXL4	c.1361A>C	NM_012160.5	NP_036292.2:p.(Gln454Pro)	NC_000006.11:g.99328457T>G	VUS	1 lab	6d87c3f501
2:179429983 TTN C>T	2	179429983	179429983	C	T	TTN	c.80876G>A	NM_001267550.2	NP_001254479.2:p.(Gly26959Asp)	NC_000002.11:g.179429983C>T	VUS	1 lab	6d88f27db7
20:33334734 NCOA6 TAA>T	20	33334734	33334756	TAA	T	NCOA6	c.2793-4_2793-3del	NM_014071.5	NP_054790.2:p.?	NC_000020.10:g.33334755_33334756del	(Likely) benign	1 lab	6d892a42c8
11:47358129 MYBPC3 G>C	11	47358129	47358129	G	C	MYBPC3	c.2603-567C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358129G>C	(Likely) benign	1 lab	6d8a539c15
17:48267687 COL1A1 C>G	17	48267687	48267687	C	G	COL1A1	c.2451+1G>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267687C>G	(Likely) pathogenic	1 lab	6d9068c8ea
11:1013523 MUC6 C>T	11	1013523	1013523	C	T	MUC6	c.7253G>A	NM_005961.3	NP_005952.2:p.(Arg2418Gln)	NC_000011.9:g.1013523C>T	(Likely) benign	1 lab	6d92fc33bc
2:215661772 BARD1 C>T	2	215661772	215661772	C	T	BARD1	c.215+13G>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215661772C>T	(Likely) benign	1 lab	6d958391c4
1:215820988 USH2A C>G	1	215820988	215820988	C	G	USH2A	c.14667G>C	NM_206933.4	NP_996816.3:p.(Gly4889=)	NC_000001.10:g.215820988C>G	(Likely) benign	1 lab	6d99a7ff28
7:94057007 COL1A2 C>T	7	94057007	94057007	C	T	COL1A2	c.3336C>T	NM_000089.4	NP_000080.2:p.(Tyr1112=)	NC_000007.13:g.94057007C>T	(Likely) benign	1 lab	6d9ce6856b
20:476391 CSNK2A1 T>C	20	476391	476391	T	C	CSNK2A1	c.482A>G	NM_001895.4	NP_001886.1:p.(Asn161Ser)	NC_000020.10:g.476391T>C	VUS	1 lab	6da0131deb
16:57005026 CETP T>A	16	57005026	57005026	T	A	CETP	c.597+12T>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005026T>A	(Likely) benign	1 lab	6da18da037
9:139418386 NOTCH1 C>G	9	139418386	139418386	C	G	NOTCH1	c.186G>C	NM_017617.5	NP_060087.3:p.(Pro62=)	NC_000009.11:g.139418386C>G	(Likely) benign	1 lab	6da42355ff
21:44478377 CBS G>A	21	44478377	44478377	G	A	CBS	c.1359-14C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44478377G>A	(Likely) benign	1 lab	6da6551d44
5:148366612 SH3TC2 A>G	5	148366612	148366612	A	G	SH3TC2	c.*17662T>C	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148366612A>G	(Likely) benign	1 lab	6da7e7d684
22:41895777 ACO2 A>G	22	41895777	41895777	A	G	ACO2	c.84A>G	NM_001098.3	NP_001089.1:p.(Gln28=)	NC_000022.10:g.41895777A>G	(Likely) benign	1 lab	6da83496d5
9:27830050 MISSING G>Alt too long to show for this DUP	9	27830050	28014511	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.27830051_28014511dup	VUS	1 lab	6da84326e0
11:44146343 EXT2 C>T	11	44146343	44146343	C	T	EXT2	c.847C>T	NM_000401.3	NP_000392.3:p.(Arg283Trp)	NC_000011.9:g.44146343C>T	VUS	1 lab	6dacfb12eb
16:67977865 LCAT CGT>C	16	67977865	67977872	CGT	C	LCAT	c.138_139del	NM_000229.2	NP_000220.1:p.(Arg47AlafsTer55)	NC_000016.9:g.67977871_67977872del	(Likely) pathogenic	1 lab	6db1f70b47
12:59307848 LRIG3 CA>C	12	59307848	59307859	CA	C	LRIG3	c.309-12del	NM_153377.5	NP_700356.2:p.?	NC_000012.11:g.59307859del	(Likely) benign	1 lab	6db21c2bd0
6:33400583 SYNGAP1 G>A	6	33400583	33400583	G	A	SYNGAP1	c.509G>A	NM_006772.3	NP_006763.2:p.(Arg170Gln)	NC_000006.11:g.33400583G>A	(Likely) pathogenic	1 lab	6db24ec14a
9:113449510 MUSK G>A	9	113449510	113449510	G	A	MUSK	c.320G>A	NM_005592.4	NP_005583.1:p.(Gly107Glu)	NC_000009.11:g.113449510G>A	VUS	1 lab	6db8a861d3
9:130263326 LRSAM1 G>A	9	130263326	130263326	G	A	LRSAM1	c.1950G>A	NM_001384142.1	NP_001371071.1:p.(Thr650=)	NC_000009.11:g.130263326G>A	(Likely) benign	1 lab	6dbd106a3d
15:73616521 HCN4 C>T	15	73616521	73616521	C	T	HCN4	c.2052G>A	NM_005477.3	NP_005468.1:p.(Leu684=)	NC_000015.9:g.73616521C>T	(Likely) benign	1 lab	6dbda64b5f
X:70361806 MED12 A>C	X	70361806	70361806	A	C	MED12	c.6482A>C	NM_005120.3	NP_005111.2:p.(Gln2161Pro)	NC_000023.10:g.70361806A>C	(Likely) pathogenic	1 lab	6dbe5ee837
19:36399126 TYROBP C>T	19	36399126	36399126	C	T	TYROBP	c.5G>A	NM_003332.4	NP_003323.1:p.(Gly2Glu)	NC_000019.9:g.36399126C>T	(Likely) benign	1 lab	6dbe9035e0
3:195507475 MUC4 G>C	3	195507475	195507475	G	C	MUC4	c.10976C>G	NM_018406.7	NP_060876.5:p.(Thr3659Arg)	NC_000003.11:g.195507475G>C	(Likely) benign	1 lab	6dbfba6659
5:89979691 ADGRV1 A>C	5	89979691	89979691	A	C	ADGRV1	c.5953A>C	NM_032119.4	NP_115495.3:p.(Asn1985His)	NC_000005.9:g.89979691A>C	VUS	1 lab	6dc036af97
17:15134246 PMP22 C>T	17	15134246	15134246	C	T	PMP22	c.471G>A	NM_000304.4	NP_000295.1:p.(Arg157=)	NC_000017.10:g.15134246C>T	(Likely) benign	1 lab	6dc1e1687c
6:100838222 SIM1 T>C	6	100838222	100838222	T	C	SIM1	c.*15A>G	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100838222T>C	(Likely) benign	1 lab	6dc5316a1f
7:100850135 PLOD3 C>T	7	100850135	100850135	C	T	PLOD3	c.1986G>A	NM_001084.5	NP_001075.1:p.(Pro662=)	NC_000007.13:g.100850135C>T	(Likely) benign	1 lab	6dc569faef
6:66005948 EYS T>A	6	66005948	66005948	T	A	EYS	c.1831A>T	NM_001292009.2	NP_001278938.1:p.(Asn611Tyr)	NC_000006.11:g.66005948T>A	VUS	1 lab	6dcb50f10a
1:197074185 ASPM G>GT	1	197074185	197074186	G	GT	ASPM	c.4195dup	NM_018136.5	NP_060606.3:p.(Thr1399AsnfsTer20)	NC_000001.10:g.197074186dup	(Likely) pathogenic	1 lab	6dcd0d48dd
10:126691634 CTBP2 T>A	10	126691634	126691634	T	A	CTBP2	c.1873A>T	NM_022802.3	NP_073713.2:p.(Ile625Phe)	NC_000010.10:g.126691634T>A	(Likely) benign	1 lab	6dcfb7c9f0
2:179642672 TTN A>C	2	179642672	179642672	A	C	TTN	c.4239T>G	NM_001267550.2	NP_001254479.2:p.(Ser1413=)	NC_000002.11:g.179642672A>C	(Likely) benign	1 lab	6dd057d6fa
8:19813567 LPL A>G	8	19813567	19813567	A	G	LPL	c.991A>G	NM_000237.3	NP_000228.1:p.(Lys331Glu)	NC_000008.10:g.19813567A>G	(Likely) pathogenic	1 lab	6dd13ec8a3
7:139611032 TBXAS1 T>C	7	139611032	139611032	T	C	TBXAS1	c.245T>C	NM_001061.7	NP_001052.3:p.(Leu82Pro)	NC_000007.13:g.139611032T>C	(Likely) pathogenic	1 lab	6dd20a1961
1:12065753 MFN2 T>G	1	12065753	12065753	T	G	MFN2	c.1496-15T>G	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12065753T>G	(Likely) benign	1 lab	6dd27542e5
6:126080394 HEY2 G>T	6	126080394	126080394	G	T	HEY2	c.460G>T	NM_012259.3	NP_036391.1:p.(Val154Leu)	NC_000006.11:g.126080394G>T	VUS	1 lab	6dd29a6abe
9:107589397 ABCA1 G>A	9	107589397	107589397	G	A	ABCA1	c.2169C>T	NM_005502.4	NP_005493.2:p.(Ser723=)	NC_000009.11:g.107589397G>A	(Likely) benign	1 lab	6dd29ffe40
3:53837433 CACNA1D C>T	3	53837433	53837433	C	T	CACNA1D	c.5436-17C>T	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53837433C>T	(Likely) benign	1 lab	6dd2d40771
3:38651345 SCN5A A>G	3	38651345	38651345	A	G	SCN5A	c.814T>C	NM_198056.3	NP_932173.1:p.(Phe272Leu)	NC_000003.11:g.38651345A>G	VUS	1 lab	6dd2f6d7f0
10:90983288 LIPA T>C	10	90983288	90983288	T	C	LIPA	c.822+153A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90983288T>C	(Likely) benign	1 lab	6dd88f08e0
1:235969299 LYST T>C	1	235969299	235969299	T	C	LYST	c.3137A>G	NM_001301365.1	NP_001288294.1:p.(Asp1046Gly)	NC_000001.10:g.235969299T>C	VUS	1 lab	6ddb1b1df9
14:105133688 MISSING G>Alt too long to show for this DUP	14	105133688	105650579	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.105133689_105650579dup	VUS	1 lab	6ddd6d0232
16:23640613 PALB2 C>G	16	23640613	23640613	C	G	PALB2	c.2515-17G>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640613C>G	(Likely) benign	1 lab	6de0a42d78
2:179498194 TTN C>T	2	179498194	179498194	C	T	TTN	c.42892G>A	NM_001267550.2	NP_001254479.2:p.(Glu14298Lys)	NC_000002.11:g.179498194C>T	VUS	1 lab	6de1160b7e
17:38802106 SMARCE1 T>A	17	38802106	38802106	T	A	SMARCE1	c.-45-7A>T	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38802106T>A	(Likely) benign	1 lab	6de3bdc27a
3:53531379 CACNA1D AAGAG>A	3	53531379	53531383	AAGAG	A	CACNA1D	c.269_272del	NM_000720.4	NP_000711.1:p.(Lys90ThrfsTer32)	NC_000003.11:g.53531380_53531383del	(Likely) benign	1 lab	6de3f5ff6c
15:89811742 FANCI G>A	15	89811742	89811742	G	A	FANCI	c.868G>A	NM_001113378.2	NP_001106849.1:p.(Val290Met)	NC_000015.9:g.89811742G>A	(Likely) benign	1 lab	6de5340ec5
2:179572540 TTN T>C	2	179572540	179572540	T	C	TTN	c.28754A>G	NM_001267550.2	NP_001254479.2:p.(Glu9585Gly)	NC_000002.11:g.179572540T>C	VUS	1 lab	6de61cf64b
2:179424060 TTN T>C	2	179424060	179424060	T	C	TTN	c.86799A>G	NM_001267550.2	NP_001254479.2:p.(Thr28933=)	NC_000002.11:g.179424060T>C	(Likely) benign	1 lab	6e5554ad7b
7:21609803 DNAH11 T>TA	7	21609803	21609804	T	TA	DNAH11	c.1312dup	NM_001277115.2	NP_001264044.1:p.(Arg438LysfsTer28)	NC_000007.13:g.21609804dup	(Likely) pathogenic	1 lab	6de97761a9
1:216166493 USH2A C>T	1	216166493	216166493	C	T	USH2A	c.6674G>A	NM_206933.4	NP_996816.3:p.(Gly2225Glu)	NC_000001.10:g.216166493C>T	(Likely) pathogenic	1 lab	6deb7ab4bc
6:32012334 TNXB G>A	6	32012334	32012334	G	A	TNXB	c.11081C>T	NM_019105.8	NP_061978.6:p.(Thr3694Ile)	NC_000006.11:g.32012334G>A	VUS	1 lab	6dece7aa52
9:113141815 SVEP1 A>G	9	113141815	113141815	A	G	SVEP1	c.10238-18T>C	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113141815A>G	(Likely) benign	1 lab	6deef44fed
18:45391744 SMAD2 G>A	18	45391744	45391744	G	A	SMAD2	c.656-240C>T	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45391744G>A	(Likely) benign	1 lab	6df1cad661
2:179514639 TTN T>C	2	179514639	179514639	T	C	TTN	c.32516-18A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179514639T>C	VUS	1 lab	6df37f4063
11:68115598 LRP5 G>T	11	68115598	68115598	G	T	LRP5	c.375G>T	NM_002335.4	NP_002326.2:p.(Thr125=)	NC_000011.9:g.68115598G>T	(Likely) benign	1 lab	6df4309677
7:22289474 MISSING T>Alt too long to show for this DUP	7	22289474	22487378	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.22289476_22487378dup	VUS	1 lab	6df744f112
2:179395936 TTN G>C	2	179395936	179395936	G	C	TTN	c.105406C>G	NM_001267550.2	NP_001254479.2:p.(Arg35136Gly)	NC_000002.11:g.179395936G>C	VUS	1 lab	6df7602e65
2:179474032 TTN G>A	2	179474032	179474032	G	A	TTN	c.52005C>T	NM_001267550.2	NP_001254479.2:p.(Arg17335=)	NC_000002.11:g.179474032G>A	(Likely) benign	1 lab	6df78e6e22
21:45322893 AGPAT3 Ref too long to show for this DEL>G	21	45322893	45332697	Ref too long to show for this DEL	G	AGPAT3	c.-111-944_-49+8797del	NM_020132.5	NP_064517.1:p.?	NC_000021.8:g.45322894_45332697del	VUS	1 lab	6df7b3c6c6
9:107593502 ABCA1 C>CT	9	107593502	107593515	C	CT	ABCA1	c.1716-121dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593515dup	(Likely) benign	1 lab	6df9e82ccc
9:27190533 TEK C>G	9	27190533	27190533	C	G	TEK	c.1334C>G	NM_000459.5	NP_000450.3:p.(Pro445Arg)	NC_000009.11:g.27190533C>G	VUS	1 lab	6dffb13a07
19:50785024 MYH14 C>T	19	50785024	50785024	C	T	MYH14	c.4464C>T	NM_001145809.2	NP_001139281.1:p.(Asp1488=)	NC_000019.9:g.50785024C>T	(Likely) benign	1 lab	6dffc26d92
9:96851281 MISSING Ref too long to show for this DEL>T	9	96851281	96884457	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.96851282_96884457del	VUS	1 lab	6dffd65372
2:21229416 APOB G>C	2	21229416	21229416	G	C	APOB	c.10324C>G	NM_000384.3	NP_000375.3:p.(Gln3442Glu)	NC_000002.11:g.21229416G>C	VUS	1 lab	6e014a039c
16:31196255 FUS C>T	16	31196255	31196255	C	T	FUS	c.524-5C>T	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31196255C>T	(Likely) benign	1 lab	6e0202060e
15:58853211 LIPC T>C	15	58853211	58853211	T	C	LIPC	c.1169+31T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853211T>C	(Likely) benign	1 lab	6e05f7e696
12:30843768 IPO8 T>A	12	30843768	30843768	T	A	IPO8	c.85-257A>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30843768T>A	(Likely) benign	1 lab	6e0aae38c5
18:2771516 SMCHD1 G>T	18	2771516	2771516	G	T	SMCHD1	c.4967-15G>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2771516G>T	(Likely) benign	1 lab	6e0bc3b200
2:211320041 LANCL1 GAA>G	2	211320041	211320053	GAA	G	LANCL1	c.200-5_200-4del	NM_006055.3	NP_006046.1:p.?	NC_000002.11:g.211320052_211320053del	(Likely) benign	1 lab	6e1031594b
12:122261144 SETD1B G>A	12	122261144	122261144	G	A	SETD1B	c.4659G>A	NM_001353345.2	NP_001340274.1:p.(Pro1553=)	NC_000012.11:g.122261144G>A	(Likely) benign	1 lab	6e10438741
19:15302845 NOTCH3 G>T	19	15302845	15302845	G	T	NOTCH3	c.605C>A	NM_000435.3	NP_000426.2:p.(Ala202Glu)	NC_000019.9:g.15302845G>T	VUS	1 lab	6e136a20ab
11:16205440 SOX6 G>A	11	16205440	16205440	G	A	SOX6	c.769C>T	NM_033326.3	NP_201583.2:p.(Gln257Ter)	NC_000011.9:g.16205440G>A	(Likely) pathogenic	1 lab	6e13af9aa5
19:11210891 LDLR T>C	19	11210891	11210891	T	C	LDLR	c.68-8T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210891T>C	(Likely) benign	1 lab	6e1fc3af3e
18:28739495 DSC1 C>CA	18	28739495	28739508	C	CA	DSC1	c.64-4dup	NM_004948.3	NP_004939.1:p.?	NC_000018.9:g.28739508dup	(Likely) benign	1 lab	6e55bfa6b4
1:202735634 KDM5B TAA>T	1	202735634	202735647	TAA	T	KDM5B	c.712-4_712-3del	NM_001314042.1	NP_001300971.1:p.?	NC_000001.10:g.202735646_202735647del	(Likely) benign	1 lab	6e218c0307
17:40696067 NAGLU G>A	17	40696067	40696067	G	A	NAGLU	c.2043G>A	NM_000263.4	NP_000254.2:p.(Ala681=)	NC_000017.10:g.40696067G>A	(Likely) benign	1 lab	6e23cfdeda
18:29126615 DSG2 G>T	18	29126615	29126615	G	T	DSG2	c.3266G>T	NM_001943.5	NP_001934.2:p.(Gly1089Val)	NC_000018.9:g.29126615G>T	VUS	1 lab	6e26aa1b77
4:113970867 ANK2 C>G	4	113970867	113970867	C	G	ANK2	c.-18C>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.113970867C>G	(Likely) benign	1 lab	6e284d972a
2:179518730 TTN Ref too long to show for this DEL>G	2	179518730	179522501	Ref too long to show for this DEL	G	TTN	c.37874-6_38464+8del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518732_179522501del	(Likely) benign	1 lab	6e2af811d5
X:38178079 RPGR C>G	X	38178079	38178079	C	G	RPGR	c.469+3G>C	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38178079C>G	VUS	1 lab	6e2c11ebf1
16:1020886 LMF1 G>A	16	1020886	1020886	G	A	LMF1	c.95C>T	NM_022773.4	NP_073610.2:p.(Ala32Val)	NC_000016.9:g.1020886G>A	(Likely) benign	1 lab	6e2d2d3ced
22:31328326 MORC2 G>A	22	31328326	31328326	G	A	MORC2	c.2655+20C>T	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31328326G>A	(Likely) benign	1 lab	6e2da938b1
19:50779443 MYH14 C>T	19	50779443	50779443	C	T	MYH14	c.3663C>T	NM_001145809.2	NP_001139281.1:p.(Asn1221=)	NC_000019.9:g.50779443C>T	(Likely) benign	1 lab	6e2ff0de30
3:101023021 IMPG2 T>G	3	101023021	101023021	T	G	IMPG2	c.470A>C	NM_016247.4	NP_057331.2:p.(Glu157Ala)	NC_000003.11:g.101023021T>G	VUS	1 lab	6e307ab155
2:179479239 TTN C>T	2	179479239	179479239	C	T	TTN	c.49002G>A	NM_001267550.2	NP_001254479.2:p.(Val16334=)	NC_000002.11:g.179479239C>T	(Likely) benign	1 lab	6e332e8037
6:39893510 MOCS1 G>A	6	39893510	39893510	G	A	MOCS1	c.330C>T	NM_005943.6	NP_005934.2:p.(Leu110=)	NC_000006.11:g.39893510G>A	(Likely) benign	1 lab	6e394f5971
9:107576727 ABCA1 C>T	9	107576727	107576727	C	T	ABCA1	c.3768G>A	NM_005502.4	NP_005493.2:p.(Gly1256=)	NC_000009.11:g.107576727C>T	(Likely) benign	1 lab	6e3bbd5526
1:90433724 MISSING A>Alt too long to show for this DUP	1	90433724	90477153	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.90433725_90477153dup	VUS	1 lab	6e3c52942c
16:11647526 LITAF G>A	16	11647526	11647526	G	A	LITAF	c.240C>T	NM_004862.4	NP_004853.2:p.(Tyr80=)	NC_000016.9:g.11647526G>A	(Likely) benign	1 lab	6e42528b04
16:57003876 CETP T>C	16	57003876	57003876	T	C	CETP	c.490T>C	NM_000078.3	NP_000069.2:p.(Phe164Leu)	NC_000016.9:g.57003876T>C	VUS	1 lab	6e4460d01c
17:33482376 UNC45B A>C	17	33482376	33482376	A	C	UNC45B	c.701A>C	NM_001033576.2	NP_001028748.1:p.(Asn234Thr)	NC_000017.10:g.33482376A>C	VUS	1 lab	6e467c4235
1:59792402 FGGY Ref too long to show for this DEL>T	1	59792402	59841016	Ref too long to show for this DEL	T	FGGY	c.201+4981_466-3405del	NM_018291.5	NP_060761.3:p.?	NC_000001.10:g.59792403_59841016del	VUS	1 lab	6e46b2c60d
9:107571772 ABCA1 G>A	9	107571772	107571772	G	A	ABCA1	c.4249C>T	NM_005502.4	NP_005493.2:p.(Arg1417Cys)	NC_000009.11:g.107571772G>A	VUS	1 lab	6e486fcf6d
2:179597376 TTN C>T	2	179597376	179597376	C	T	TTN	c.16412G>A	NM_001267550.2	NP_001254479.2:p.(Ser5471Asn)	NC_000002.11:g.179597376C>T	VUS	1 lab	6e4a3198f9
X:131212012 FRMD7 C>T	X	131212012	131212012	C	T	FRMD7	c.2033G>A	NM_194277.3	NP_919253.1:p.(Arg678His)	NC_000023.10:g.131212012C>T	(Likely) benign	1 lab	6e4bb53c50
19:11230784 LDLR C>T	19	11230784	11230784	C	T	LDLR	c.1862C>T	NM_000527.5	NP_000518.1:p.(Thr621Ile)	NC_000019.9:g.11230784C>T	(Likely) pathogenic	1 lab	6e4c68a5f9
2:191523879 NAB1 G>T	2	191523879	191523879	G	T	NAB1	c.-19-5G>T	NM_005966.4	NP_005957.2:p.?	NC_000002.11:g.191523879G>T	(Likely) benign	1 lab	6e4e5b686b
2:21231047 APOB A>G	2	21231047	21231047	A	G	APOB	c.8693T>C	NM_000384.3	NP_000375.3:p.(Leu2898Pro)	NC_000002.11:g.21231047A>G	VUS	1 lab	6e50200128
10:90986856 LIPA AAC>A	10	90986856	90986861	AAC	A	LIPA	c.429-97_429-96del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90986860_90986861del	(Likely) benign	1 lab	6e509b6ab2
X:53616612 HUWE1 A>T	X	53616612	53616612	A	T	HUWE1	c.4356T>A	NM_031407.7	NP_113584.3:p.(Asp1452Glu)	NC_000023.10:g.53616612A>T	VUS	1 lab	6e53cb9385
2:21236067 APOB T>C	2	21236067	21236067	T	C	APOB	c.4181A>G	NM_000384.3	NP_000375.3:p.(Asp1394Gly)	NC_000002.11:g.21236067T>C	(Likely) benign	1 lab	6e566ef178
21:47663551 MCM3AP G>T	21	47663551	47663551	G	T	MCM3AP	c.5124C>A	NM_003906.5	NP_003897.2:p.(Ser1708=)	NC_000021.8:g.47663551G>T	(Likely) benign	1 lab	6e5a16134b
8:59410885 CYP7A1 T>C	8	59410885	59410885	T	C	CYP7A1	c.224A>G	NM_000780.4	NP_000771.2:p.(Tyr75Cys)	NC_000008.10:g.59410885T>C	(Likely) pathogenic	1 lab	6e5c2b9ccf
10:6072302 MISSING T>Alt too long to show for this DUP	10	6072302	6389505	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.6072303_6389505dup	VUS	1 lab	6e5e2cc0a8
9:107546274 ABCA1 CAAA>C	9	107546274	107546290	CAAA	C	ABCA1	c.*319_*321del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546288_107546290del	(Likely) benign	1 lab	6e636ec1f7
8:144998853 PLEC C>T	8	144998853	144998853	C	T	PLEC	c.5655G>A	NM_201380.4	NP_958782.1:p.(Gln1885=)	NC_000008.10:g.144998853C>T	(Likely) benign	1 lab	6e64f2765d
9:140676800 EHMT1 A>C	9	140676800	140676800	A	C	EHMT1	c.2333A>C	NM_024757.5	NP_079033.4:p.(His778Pro)	NC_000009.11:g.140676800A>C	(Likely) pathogenic	1 lab	6e656c3bde
1:147425688 MISSING Ref too long to show for this DEL>A	1	147425688	147509544	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.147425689_147509544del	VUS	1 lab	6e669da864
5:32114128 MISSING C>Alt too long to show for this DUP	5	32114128	32170613	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.32114129_32170613dup	(Likely) benign	1 lab	6e66b49696
10:92678742 ANKRD1 TAA>T	10	92678742	92678745	TAA	T	ANKRD1	c.346-15_346-14del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745del	(Likely) benign	1 lab	6e6757a31b
19:11226866 LDLR G>A	19	11226866	11226866	G	A	LDLR	c.1683G>A	NM_000527.5	NP_000518.1:p.(Gln561=)	NC_000019.9:g.11226866G>A	(Likely) benign	1 lab	6e68890276
22:50899579 SBF1 G>T	22	50899579	50899579	G	T	SBF1	c.2967+9C>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50899579G>T	(Likely) benign	1 lab	6e698feb9c
19:49684727 TRPM4 T>C	19	49684727	49684727	T	C	TRPM4	c.1263+9T>C	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49684727T>C	(Likely) benign	1 lab	6e699d94a0
10:61828954 ANK3 G>A	10	61828954	61828954	G	A	ANK3	c.11685C>T	NM_020987.5	NP_066267.2:p.(Ser3895=)	NC_000010.10:g.61828954G>A	(Likely) benign	1 lab	6e6af2d326
3:184038792 EIF4G1 C>A	3	184038792	184038792	C	A	EIF4G1	c.697+11C>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184038792C>A	(Likely) benign	1 lab	6e6b1b2a18
6:32063793 TNXB T>C	6	32063793	32063793	T	C	TNXB	c.1837A>G	NM_019105.8	NP_061978.6:p.(Ser613Gly)	NC_000006.11:g.32063793T>C	(Likely) benign	1 lab	6e6c2ce283
15:48808114 FBN1 C>T	15	48808114	48808114	C	T	FBN1	c.1327+266G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48808114C>T	(Likely) benign	1 lab	6e6d07e660
2:8931338 KIDINS220 A>AGT	2	8931338	8931340	A	AGT	KIDINS220	c.1291_1292dup	NM_001348738.2	NP_001335667.1:p.(Glu432LeufsTer49)	NC_000002.11:g.8931339_8931340dup	VUS	1 lab	6e6d1f03c0
5:33989503 AMACR C>G	5	33989503	33989503	C	G	AMACR	c.844G>C	NM_014324.6	NP_055139.4:p.(Glu282Gln)	NC_000005.9:g.33989503C>G	(Likely) benign	1 lab	6e6f87ce61
8:119949755 MISSING A>Alt too long to show for this DUP	8	119949755	120118450	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.119949756_120118450dup	VUS	1 lab	6e7084913b
10:35314130 CUL2 TA>T	10	35314130	35314146	TA	T	CUL2	c.1657-5del	NM_001198779.1	NP_001185708.1:p.?	NC_000010.10:g.35314146del	(Likely) benign	1 lab	6e715d89c6
2:179552896 TTN T>G	2	179552896	179552896	T	G	TTN	c.32253A>C	NM_001267550.2	NP_001254479.2:p.(Ser10751=)	NC_000002.11:g.179552896T>G	VUS	1 lab	6e747d5272
1:216745508 ESRRG T>Alt too long to show for this DUP	1	216745508	216776954	T	Alt too long to show for this DUP	ESRRG	c.590-35514_590-4069dup	NM_001438.4	NP_001429.2:p.?	NC_000001.10:g.216745509_216776954dup	VUS	1 lab	6e756aec93
15:62214607 VPS13C C>T	15	62214607	62214607	C	T	VPS13C	c.6964G>A	NM_001018088.3	NP_001018098.1:p.(Val2322Met)	NC_000015.9:g.62214607C>T	(Likely) benign	1 lab	6e75b3f14d
9:107550302 ABCA1 C>T	9	107550302	107550302	C	T	ABCA1	c.6103G>A	NM_005502.4	NP_005493.2:p.(Val2035Met)	NC_000009.11:g.107550302C>T	(Likely) benign	1 lab	6e7aa1f2e2
14:59112414 DACT1 C>T	14	59112414	59112414	C	T	DACT1	c.1073C>T	NM_016651.6	NP_057735.2:p.(Pro358Leu)	NC_000014.8:g.59112414C>T	VUS	1 lab	6e7ddcd980
15:85411530 ALPK3 C>T	15	85411530	85411530	C	T	ALPK3	c.4961C>T	NM_020778.5	NP_065829.4:p.(Pro1654Leu)	NC_000015.9:g.85411530C>T	VUS	1 lab	6e7e260b06
15:52613628 MYO5A G>C	15	52613628	52613628	G	C	MYO5A	c.4804C>G	NM_000259.3	NP_000250.3:p.(Leu1602Val)	NC_000015.9:g.52613628G>C	(Likely) benign	1 lab	6e7f8048ed
14:74995678 LTBP2 C>T	14	74995678	74995678	C	T	LTBP2	c.2135G>A	NM_000428.3	NP_000419.1:p.(Cys712Tyr)	NC_000014.8:g.74995678C>T	(Likely) pathogenic	1 lab	6e8156e95f
9:107588401 ABCA1 T>C	9	107588401	107588401	T	C	ABCA1	c.2338-233A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588401T>C	VUS	1 lab	6e8435471d
15:72105881 NR2E3 G>A	15	72105881	72105881	G	A	NR2E3	c.900G>A	NM_016346.4	NP_057430.1:p.(Thr300=)	NC_000015.9:g.72105881G>A	(Likely) benign	1 lab	6e86405c00
10:73537493 CDH23 C>T	10	73537493	73537493	C	T	CDH23	c.4902C>T	NM_022124.6	NP_071407.4:p.(Phe1634=)	NC_000010.10:g.73537493C>T	(Likely) benign	1 lab	6e87a875f7
20:34092354 CEP250 C>T	20	34092354	34092354	C	T	CEP250	c.6157C>T	NM_007186.6	NP_009117.2:p.(His2053Tyr)	NC_000020.10:g.34092354C>T	(Likely) benign	1 lab	6e8926b125
16:29604611 MISSING Ref too long to show for this DEL>T	16	29604611	30167027	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29604612_30167027del	(Likely) pathogenic	1 lab	6e8a86f30a
19:38979907 RYR1 G>A	19	38979907	38979907	G	A	RYR1	c.5638G>A	NM_000540.3	NP_000531.2:p.(Glu1880Lys)	NC_000019.9:g.38979907G>A	VUS	1 lab	6e8afe56db
3:14183237 TMEM43 T>C	3	14183237	14183237	T	C	TMEM43	c.1145T>C	NM_024334.3	NP_077310.1:p.(Leu382Pro)	NC_000003.11:g.14183237T>C	VUS	1 lab	6e8b8ef21d
17:36483125 GPR179 G>C	17	36483125	36483125	G	C	GPR179	c.6327C>G	NM_001004334.4	NP_001004334.3:p.(Thr2109=)	NC_000017.10:g.36483125G>C	(Likely) benign	1 lab	6e8c9f26c2
4:135434695 MISSING T>Alt too long to show for this DUP	4	135434695	135552881	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.135434696_135552881dup	VUS	1 lab	6e8f2b3f62
11:116661345 APOA5 G>A	11	116661345	116661345	G	A	APOA5	c.600C>T	NM_052968.5	NP_443200.2:p.(Ser200=)	NC_000011.9:g.116661345G>A	(Likely) benign	1 lab	6e930929c6
3:123427323 MYLK G>A	3	123427323	123427323	G	A	MYLK	c.2140+222C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123427323G>A	(Likely) benign	1 lab	6e93bad1d2
10:112544656 RBM20 G>A	10	112544656	112544656	G	A	RBM20	c.1527+9G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544656G>A	(Likely) benign	1 lab	6e944ede01
20:56234849 PMEPA1 G>C	20	56234849	56234849	G	C	PMEPA1	c.110-96C>G	NM_020182.5	NP_064567.2:p.?	NC_000020.10:g.56234849G>C	(Likely) benign	1 lab	6e958adf85
22:51065266 ARSA G>C	22	51065266	51065266	G	C	ARSA	c.680C>G	NM_000487.6	NP_000478.3:p.(Ser227Cys)	NC_000022.10:g.51065266G>C	VUS	1 lab	6e95e2cf64
4:88957562 PKD2 T>C	4	88957562	88957562	T	C	PKD2	c.843+57T>C	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88957562T>C	(Likely) benign	1 lab	6e966bcfad
3:49692038 BSN C>T	3	49692038	49692038	C	T	BSN	c.5049C>T	NM_003458.4	NP_003449.2:p.(Gly1683=)	NC_000003.11:g.49692038C>T	(Likely) benign	1 lab	6e96aac4b1
2:44051275 ABCG5 T>G	2	44051275	44051275	T	G	ABCG5	c.1119-18A>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051275T>G	(Likely) benign	1 lab	6e9755bb39
2:44059169 ABCG5 CCG>C	2	44059169	44059176	CCG	C	ABCG5	c.317_318del	NM_022436.3	NP_071881.1:p.(Ala106GlyfsTer91)	NC_000002.11:g.44059175_44059176del	(Likely) pathogenic	1 lab	6e98e2b15d
19:38249238 ZNF573 TAA>T	19	38249238	38249254	TAA	T	ZNF573	c.1-4_1-3del	NM_152360.4	NP_689573.3:p.?	NC_000019.9:g.38249253_38249254del	(Likely) benign	1 lab	6e9e572dd2
5:127697462 FBN2 C>T	5	127697462	127697462	C	T	FBN2	c.2508G>A	NM_001999.4	NP_001990.2:p.(Thr836=)	NC_000005.9:g.127697462C>T	(Likely) benign	1 lab	6ea2b12d6c
5:172660519 NKX2-5 A>AT	5	172660519	172660520	A	AT	NKX2-5	c.335-16_335-15insA	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660519_172660520insT	(Likely) benign	1 lab	6ea52a52a4
11:1018341 MUC6 G>A	11	1018341	1018341	G	A	MUC6	c.4460C>T	NM_005961.3	NP_005952.2:p.(Pro1487Leu)	NC_000011.9:g.1018341G>A	(Likely) benign	1 lab	6ea58daa6f
1:168066017 GPR161 G>A	1	168066017	168066017	G	A	GPR161	c.828C>T	NM_001375885.1	NP_001362814.1:p.(Leu276=)	NC_000001.10:g.168066017G>A	(Likely) benign	1 lab	6eab00a420
19:11230515 LDLR G>A	19	11230515	11230515	G	A	LDLR	c.1846-253G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230515G>A	(Likely) benign	1 lab	6ead5d8097
11:66288761 BBS1 C>T	11	66288761	66288761	C	T	BBS1	c.744C>T	NM_024649.5	NP_078925.3:p.(Pro248=)	NC_000011.9:g.66288761C>T	(Likely) benign	1 lab	6eafad810a
11:17448703 ABCC8 T>A	11	17448703	17448703	T	A	ABCC8	c.2183-2A>T	NM_001351295.2	NP_001338224.1:p.?	NC_000011.9:g.17448703T>A	(Likely) pathogenic	1 lab	6eb13b9d85
X:122598827 GRIA3 G>A	X	122598827	122598827	G	A	GRIA3	c.2188G>A	NM_000828.5	NP_000819.4:p.(Gly730Arg)	NC_000023.10:g.122598827G>A	VUS	1 lab	6eb34bf582
2:189856617 COL3A1 T>C	2	189856617	189856617	T	C	COL3A1	c.951+169T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856617T>C	(Likely) benign	1 lab	6eb8a13499
12:50499490 GPD1 T>C	12	50499490	50499490	T	C	GPD1	c.360+19T>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50499490T>C	(Likely) benign	1 lab	6eb91be2cb
6:169631423 THBS2 G>A	6	169631423	169631423	G	A	THBS2	c.2151+652C>T	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169631423G>A	(Likely) benign	1 lab	6eba2c68e4
20:586498 MISSING G>Alt too long to show for this DUP	20	586498	848897	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.586499_848897dup	VUS	1 lab	6ebad8f173
7:103132480 RELN CAAACAT>C	7	103132480	103132491	CAAACAT	C	RELN	c.9370-13_9370-8del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103132486_103132491del	(Likely) benign	1 lab	6ebbb1548c
11:68157694 LRP5 C>T	11	68157694	68157694	C	T	LRP5	c.1584+174C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68157694C>T	(Likely) benign	1 lab	6ebe1c73c6
2:179611937 TTN T>G	2	179611937	179611937	T	G	TTN	c.15190A>C	NM_133379.5	NP_596870.2:p.(Thr5064Pro)	NC_000002.11:g.179611937T>G	(Likely) benign	1 lab	6ebef46506
17:36482438 GPR179 C>T	17	36482438	36482438	C	T	GPR179	c.7014G>A	NM_001004334.4	NP_001004334.3:p.(Ser2338=)	NC_000017.10:g.36482438C>T	(Likely) benign	1 lab	6ec27ae139
6:43565418 POLH C>T	6	43565418	43565418	C	T	POLH	c.491-15C>T	NM_006502.3	NP_006493.1:p.?	NC_000006.11:g.43565418C>T	(Likely) benign	1 lab	6ec58e2faf
3:46593889 LRRC2 Ref too long to show for this DEL>C	3	46593889	46599556	Ref too long to show for this DEL	C	LRRC2	c.-19-6454_-19-790del	NM_024512.5	NP_078788.2:p.?	NC_000003.11:g.46593892_46599556del	VUS	1 lab	6ec6074372
5:138145795 CTNNA1 A>G	5	138145795	138145795	A	G	CTNNA1	c.370A>G	NM_001903.5	NP_001894.2:p.(Met124Val)	NC_000005.9:g.138145795A>G	VUS	1 lab	6ec64d5413
13:114322027 GRK1 C>T	13	114322027	114322027	C	T	GRK1	c.326C>T	NM_002929.3	NP_002920.1:p.(Thr109Ile)	NC_000013.10:g.114322027C>T	VUS	1 lab	6eca6c5cb5
18:19348579 MIB1 T>G	18	19348579	19348579	T	G	MIB1	c.402-5T>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19348579T>G	VUS	1 lab	6eca8f8650
1:112524815 KCND3 G>A	1	112524815	112524815	G	A	KCND3	c.534C>T	NM_004980.5	NP_004971.2:p.(Thr178=)	NC_000001.10:g.112524815G>A	(Likely) benign	1 lab	6ecfcb360e
7:150648027 KCNH2 G>T	7	150648027	150648027	G	T	KCNH2	c.2127C>A	NM_000238.4	NP_000229.1:p.(Asn709Lys)	NC_000007.13:g.150648027G>T	VUS	1 lab	6ed6b73436
16:57006305 CETP C>T	16	57006305	57006305	C	T	CETP	c.750+310C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006305C>T	(Likely) benign	1 lab	6ed892815c
2:85662149 SH2D6 A>C	2	85662149	85662149	A	C	SH2D6	c.98-39A>C	NM_201594.3	NP_963888.2:p.?	NC_000002.11:g.85662149A>C	(Likely) benign	1 lab	6ed90542fe
9:107646736 ABCA1 C>T	9	107646736	107646736	C	T	ABCA1	c.274G>A	NM_005502.4	NP_005493.2:p.(Gly92Arg)	NC_000009.11:g.107646736C>T	VUS	1 lab	6edc283e3f
9:107591394 ABCA1 T>C	9	107591394	107591394	T	C	ABCA1	c.1918A>G	NM_005502.4	NP_005493.2:p.(Met640Val)	NC_000009.11:g.107591394T>C	(Likely) pathogenic	1 lab	6edf96df7b
22:50885623 SBF1 G>A	22	50885623	50885623	G	A	SBF1	c.5630C>T	NM_002972.4	NP_002963.2:p.(Pro1877Leu)	NC_000022.10:g.50885623G>A	(Likely) benign	1 lab	6ee0551539
2:179643649 TTN A>G	2	179643649	179643649	A	G	TTN	c.4160T>C	NM_001267550.2	NP_001254479.2:p.(Leu1387Pro)	NC_000002.11:g.179643649A>G	VUS	1 lab	6ee3044867
1:19566875 EMC1 G>A	1	19566875	19566875	G	A	EMC1	c.702C>T	NM_015047.3	NP_055862.1:p.(Val234=)	NC_000001.10:g.19566875G>A	(Likely) benign	1 lab	6ee4c06ec7
19:38959759 RYR1 C>T	19	38959759	38959759	C	T	RYR1	c.3535C>T	NM_000540.3	NP_000531.2:p.(Arg1179Trp)	NC_000019.9:g.38959759C>T	VUS	1 lab	6ee8a3cd5d
6:32029415 TNXB T>C	6	32029415	32029415	T	C	TNXB	c.7251A>G	NM_019105.8	NP_061978.6:p.(Leu2417=)	NC_000006.11:g.32029415T>C	(Likely) benign	1 lab	6ee8a5d07c
14:76232599 TTLL5 A>G	14	76232599	76232599	A	G	TTLL5	c.1903A>G	NM_015072.5	NP_055887.3:p.(Met635Val)	NC_000014.8:g.76232599A>G	VUS	1 lab	6eeb31aa79
6:32024681 TNXB C>G	6	32024681	32024681	C	G	TNXB	c.7826-1G>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32024681C>G	(Likely) pathogenic	1 lab	6eef89f416
19:55667972 TNNI3 T>C	19	55667972	55667972	T	C	TNNI3	c.149A>G	NM_000363.5	NP_000354.4:p.(Lys50Arg)	NC_000019.9:g.55667972T>C	VUS	1 lab	6ef6279ba7
22:41574161 EP300 A>G	22	41574161	41574161	A	G	EP300	c.6446A>G	NM_001429.4	NP_001420.2:p.(Gln2149Arg)	NC_000022.10:g.41574161A>G	VUS	1 lab	6ef6b65993
8:133981696 TG T>C	8	133981696	133981696	T	C	TG	c.5864-7T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133981696T>C	(Likely) benign	1 lab	6ef6c63404
X:153171627 AVPR2 G>A	X	153171627	153171627	G	A	AVPR2	c.667G>A	NM_001146151.3	NP_001139623.1:p.(Ala223Thr)	NC_000023.10:g.153171627G>A	(Likely) benign	1 lab	6ef6da7c0d
8:102670305 GRHL2 Ref too long to show for this DEL>T	8	102670305	102689988	Ref too long to show for this DEL	T	GRHL2				NC_000008.10:g.102670306_102689988del	VUS	1 lab	6efa765846
9:137705567 COL5A1 G>A	9	137705567	137705567	G	A	COL5A1	c.3853-262G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137705567G>A	(Likely) benign	1 lab	6efb42cb01
16:66956240 RRAD C>G	16	66956240	66956240	C	G	RRAD	c.666G>C	NM_001128850.2	NP_001122322.1:p.(Ala222=)	NC_000016.9:g.66956240C>G	(Likely) benign	1 lab	6efb86c272
6:100838595 SIM1 T>C	6	100838595	100838595	T	C	SIM1	c.1943A>G	NM_005068.3	NP_005059.2:p.(Tyr648Cys)	NC_000006.11:g.100838595T>C	VUS	1 lab	6efd3ba0d7
17:79991648 RAC3 C>T	17	79991648	79991648	C	T	RAC3	c.522C>T	NM_005052.3	NP_005043.1:p.(Arg174=)	NC_000017.10:g.79991648C>T	(Likely) benign	1 lab	6f008a6a02
13:32914935 BRCA2 CT>C	13	32914935	32914936	CT	C	BRCA2	c.6444del	NM_000059.4	NP_000050.3:p.(Ile2149LeufsTer19)	NC_000013.10:g.32914936del	(Likely) pathogenic	1 lab	6f008b902a
10:90983403 LIPA T>TA	10	90983403	90983414	T	TA	LIPA	c.822+37dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90983414dup	(Likely) benign	1 lab	6f0430c168
1:43784956 TIE1 A>G	1	43784956	43784956	A	G	TIE1	c.2973A>G	NM_005424.5	NP_005415.1:p.(Leu991=)	NC_000001.10:g.43784956A>G	(Likely) benign	1 lab	6f049d31f1
17:4937982 SLC52A1 T>C	17	4937982	4937982	T	C	SLC52A1	c.-81A>G	NM_001104577.2	NP_001098047.1:p.?	NC_000017.10:g.4937982T>C	(Likely) benign	1 lab	6f05e04368
12:125299983 SCARB1 A>G	12	125299983	125299983	A	G	SCARB1	c.285-323T>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125299983A>G	(Likely) benign	1 lab	6f05fb1fb6
2:220501082 SLC4A3 C>T	2	220501082	220501082	C	T	SLC4A3	c.2331C>T	NM_001326559.2	NP_001313488.2:p.(Leu777=)	NC_000002.11:g.220501082C>T	(Likely) benign	1 lab	6f0b2bf27f
6:7585632 DSP G>A	6	7585632	7585632	G	A	DSP	c.8137G>A	NM_004415.4	NP_004406.2:p.(Val2713Met)	NC_000006.11:g.7585632G>A	VUS	1 lab	6f0c6c15a5
2:179484775 TTN C>T	2	179484775	179484775	C	T	TTN	c.46369G>A	NM_001267550.2	NP_001254479.2:p.(Glu15457Lys)	NC_000002.11:g.179484775C>T	VUS	1 lab	6f0ca4063b
16:28371466 MISSING Ref too long to show for this DEL>G	16	28371466	29432213	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28371467_29432213del	(Likely) pathogenic	1 lab	6f0f5dea0f
17:1554463 PRPF8 C>T	17	1554463	1554463	C	T	PRPF8	c.6792G>A	NM_006445.4	NP_006436.3:p.(Ser2264=)	NC_000017.10:g.1554463C>T	(Likely) benign	1 lab	6f0ff6c8e8
18:34297994 FHOD3 C>T	18	34297994	34297994	C	T	FHOD3	c.2733C>T	NM_001281740.3	NP_001268669.1:p.(Thr911=)	NC_000018.9:g.34297994C>T	(Likely) benign	1 lab	6f10e91535
8:30924545 WRN C>G	8	30924545	30924545	C	G	WRN	c.505-4C>G	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30924545C>G	(Likely) benign	1 lab	6f10fae8e5
15:58834113 LIPC C>T	15	58834113	58834113	C	T	LIPC	c.403C>T	NM_000236.3	NP_000227.2:p.(Arg135Cys)	NC_000015.9:g.58834113C>T	(Likely) benign	1 lab	6f11f4d061
11:68131011 LRP5 G>A	11	68131011	68131011	G	A	LRP5	c.687-204G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68131011G>A	(Likely) benign	1 lab	6f27b2b12e
3:116552962 MISSING Ref too long to show for this DEL>A	3	116552962	116781787	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.116552964_116781787del	VUS	1 lab	6f136e8545
11:68157455 LRP5 G>A	11	68157455	68157455	G	A	LRP5	c.1519G>A	NM_002335.4	NP_002326.2:p.(Gly507Ser)	NC_000011.9:g.68157455G>A	(Likely) pathogenic	1 lab	6f13bbb322
1:244218415 ZBTB18 T>G	1	244218415	244218415	T	G	ZBTB18	c.1312T>G	NM_006352.4	NP_006343.2:p.(Tyr438Asp)	NC_000001.10:g.244218415T>G	(Likely) pathogenic	1 lab	6f15d9816a
1:109446777 GPSM2 C>T	1	109446777	109446777	C	T	GPSM2	c.1093C>T	NM_013296.5	NP_037428.3:p.(Arg365Ter)	NC_000001.10:g.109446777C>T	(Likely) pathogenic	1 lab	6f1a56a6b9
16:89371827 ANKRD11 G>A	16	89371827	89371827	G	A	ANKRD11	c.88-75C>T	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89371827G>A	(Likely) benign	1 lab	6f1a9c41c5
X:105152151 MISSING G>Alt too long to show for this DUP	X	105152151	105530019	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.105152152_105530019dup	VUS	1 lab	6f1b8204d2
11:2466333 KCNQ1 C>G	11	2466333	2466333	C	G	KCNQ1	c.5C>G	NM_000218.3	NP_000209.2:p.(Ala2Gly)	NC_000011.9:g.2466333C>G	VUS	1 lab	6f1e01539e
1:237806606 RYR2 G>GT	1	237806606	237806615	G	GT	RYR2	c.7222-12dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237806615dup	(Likely) benign	1 lab	6f206035aa
1:43228263 P3H1 C>T	1	43228263	43228263	C	T	P3H1	c.466-117G>A	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43228263C>T	(Likely) benign	1 lab	6f20a867c1
16:88798330 PIEZO1 A>AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	16	88798330	88798341	A	AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	PIEZO1	c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGG	(Likely) benign	1 lab	6f2790d355
9:119460628 TRIM32 C>T	9	119460628	119460628	C	T	TRIM32	c.607C>T	NM_012210.4	NP_036342.2:p.(Arg203Trp)	NC_000009.11:g.119460628C>T	VUS	1 lab	6f2878a79e
9:109690985 ZNF462 A>T	9	109690985	109690985	A	T	ZNF462	c.4792A>T	NM_021224.6	NP_067047.4:p.(Lys1598Ter)	NC_000009.11:g.109690985A>T	(Likely) pathogenic	1 lab	6f2a6cf1f8
5:10258220 CCT5 C>T	5	10258220	10258220	C	T	CCT5	c.366-3C>T	NM_001306154.2	NP_001293083.1:p.?	NC_000005.9:g.10258220C>T	(Likely) benign	1 lab	6f2ac9f8cf
19:50338802 MED25 G>A	19	50338802	50338802	G	A	MED25	c.1686G>A	NM_030973.4	NP_112235.2:p.(Gln562=)	NC_000019.9:g.50338802G>A	(Likely) benign	1 lab	6f2f4f3ee6
2:179432999 TTN T>C	2	179432999	179432999	T	C	TTN	c.77860A>G	NM_001267550.2	NP_001254479.2:p.(Lys25954Glu)	NC_000002.11:g.179432999T>C	VUS	1 lab	6f2fa8a6be
6:31599981 PRRC2A CCCT>C	6	31599981	31599988	CCCT	C	PRRC2A	c.3536_3538del	NM_004638.4	NP_004629.3:p.(Pro1179del)	NC_000006.11:g.31599986_31599988del	(Likely) benign	1 lab	6f3021bd35
9:2081900 SMARCA2 G>A	9	2081900	2081900	G	A	SMARCA2	c.2253G>A	NM_001289396.1	NP_001276325.1:p.(Met751Ile)	NC_000009.11:g.2081900G>A	(Likely) pathogenic	1 lab	6f30ab6bb6
18:34232543 FHOD3 G>A	18	34232543	34232543	G	A	FHOD3	c.1297G>A	NM_001281740.3	NP_001268669.1:p.(Ala433Thr)	NC_000018.9:g.34232543G>A	(Likely) benign	1 lab	6f339bd60d
18:12971215 SEH1L C>T	18	12971215	12971215	C	T	SEH1L	c.585C>T	NM_031216.4	NP_112493.2:p.(Ala195=)	NC_000018.9:g.12971215C>T	(Likely) benign	1 lab	6f3566b751
14:23863122 MYH6 G>A	14	23863122	23863122	G	A	MYH6	c.2686-5C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863122G>A	(Likely) benign	1 lab	6f37880b18
18:34298168 FHOD3 G>A	18	34298168	34298168	G	A	FHOD3	c.2907G>A	NM_001281740.3	NP_001268669.1:p.(Pro969=)	NC_000018.9:g.34298168G>A	(Likely) benign	1 lab	6f39c4914d
17:45299842 MYL4 C>T	17	45299842	45299842	C	T	MYL4	c.565+19C>T	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45299842C>T	(Likely) benign	1 lab	6f4659dd7e
15:58830550 LIPC C>T	15	58830550	58830550	C	T	LIPC	c.107C>T	NM_000236.3	NP_000227.2:p.(Ala36Val)	NC_000015.9:g.58830550C>T	VUS	1 lab	6f478d254d
10:69926297 MYPN G>A	10	69926297	69926297	G	A	MYPN	c.1847G>A	NM_032578.4	NP_115967.2:p.(Gly616Asp)	NC_000010.10:g.69926297G>A	VUS	1 lab	6f4b1aa78a
2:77119337 LRRTM4 Ref too long to show for this DEL>A	2	77119337	77252316	Ref too long to show for this DEL	A	LRRTM4	c.1552-276273_1552-143296del	NM_001134745.3	NP_001128217.1:p.?	NC_000002.11:g.77119339_77252316del	VUS	1 lab	6f50a9f160
7:72650118 MISSING Ref too long to show for this DEL>A	7	72650118	74142190	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72650120_74142190del	(Likely) pathogenic	1 lab	6f50cab080
9:137623485 COL5A1 G>A	9	137623485	137623485	G	A	COL5A1	c.1308G>A	NM_000093.5	NP_000084.3:p.(Ala436=)	NC_000009.11:g.137623485G>A	(Likely) benign	1 lab	6f511e28e4
14:78234522 MISSING T>Alt too long to show for this DUP	14	78234522	78274607	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.78234523_78274607dup	VUS	1 lab	6f51bd3392
1:94506880 ABCA4 C>T	1	94506880	94506880	C	T	ABCA4	c.3407G>A	NM_000350.3	NP_000341.2:p.(Gly1136Glu)	NC_000001.10:g.94506880C>T	VUS	1 lab	6f5520df9f
8:19812121 LPL C>T	8	19812121	19812121	C	T	LPL	c.775+257C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812121C>T	(Likely) benign	1 lab	6f57ecb291
11:65309852 LTBP3 C>CTT	11	65309852	65309877	C	CTT	LTBP3	c.2597-655_2597-654dup	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65309876_65309877dup	(Likely) benign	1 lab	6f5a34ec3f
19:13321465 CACNA1A C>T	19	13321465	13321465	C	T	CACNA1A	c.6323G>A	NM_023035.3	NP_075461.2:p.(Arg2108Lys)	NC_000019.9:g.13321465C>T	VUS	1 lab	6f5b663547
18:6955333 LAMA1 A>G	18	6955333	6955333	A	G	LAMA1	c.8207+19T>C	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6955333A>G	(Likely) benign	1 lab	6f5cdfd059
17:7919334 GUCY2D C>T	17	7919334	7919334	C	T	GUCY2D	c.3133C>T	NM_000180.4	NP_000171.1:p.(Leu1045=)	NC_000017.10:g.7919334C>T	(Likely) benign	1 lab	6f5d7696ce
12:21329832 SLCO1B1 G>T	12	21329832	21329832	G	T	SLCO1B1	c.481+1G>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329832G>T	(Likely) benign	1 lab	6f5d8eca3c
4:55976739 KDR A>G	4	55976739	55976739	A	G	KDR	c.1092-6T>C	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976739A>G	(Likely) benign	1 lab	6f62f1931f
1:46658957 POMGNT1 C>G	1	46658957	46658957	C	G	POMGNT1	c.1110+20G>C	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46658957C>G	(Likely) benign	1 lab	6f642760a5
7:140477803 BRAF A>T	7	140477803	140477803	A	T	BRAF	c.1505T>A	NM_004333.6	NP_004324.2:p.(Val502Glu)	NC_000007.13:g.140477803A>T	VUS	1 lab	6f64cb155b
2:179427533 TTN T>TA	2	179427533	179427534	T	TA	TTN	c.83325_83326insT	NM_001267550.2	NP_001254479.2:p.(Arg27776Ter)	NC_000002.11:g.179427533_179427534insA	(Likely) pathogenic	1 lab	6f657fe572
1:237936919 RYR2 G>T	1	237936919	237936919	G	T	RYR2	c.11746G>T	NM_001035.3	NP_001026.2:p.(Val3916Phe)	NC_000001.10:g.237936919G>T	(Likely) pathogenic	1 lab	6f665d5530
2:112751999 MERTK T>A	2	112751999	112751999	T	A	MERTK	c.1450+18T>A	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112751999T>A	(Likely) benign	1 lab	6f6b99f2f4
10:69909880 MYPN ATTACTTC>A	10	69909880	69909889	ATTACTTC	A	MYPN	c.1317+15_1317+21del	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69909883_69909889del	(Likely) benign	1 lab	6f6ce99b87
3:75786387 ZNF717 T>C	3	75786387	75786387	T	C	ZNF717	c.2387A>G	NM_001128223.3	NP_001121695.1:p.(Tyr796Cys)	NC_000003.11:g.75786387T>C	(Likely) benign	1 lab	6f6f50682e
12:12871170 CDKN1B C>A	12	12871170	12871170	C	A	CDKN1B	c.397C>A	NM_004064.5	NP_004055.1:p.(Pro133Thr)	NC_000012.11:g.12871170C>A	(Likely) benign	1 lab	6f70aa2b03
2:21236024 APOB TA>T	2	21236024	21236025	TA	T	APOB	c.4216+7del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236025del	(Likely) benign	1 lab	6f728b26ce
16:88503912 ZNF469 G>A	16	88503912	88503912	G	A	ZNF469	c.10034G>A	NM_001367624.2	NP_001354553.1:p.(Arg3345His)	NC_000016.9:g.88503912G>A	(Likely) benign	1 lab	6f7377cc13
7:720299 PRKAR1B T>A	7	720299	720299	T	A	PRKAR1B	c.242A>T	NM_001164761.2	NP_001158233.1:p.(Glu81Val)	NC_000007.13:g.720299T>A	VUS	1 lab	6fddcb43ad
7:75933324 HSPB1 C>T	7	75933324	75933324	C	T	HSPB1	c.452C>T	NM_001540.5	NP_001531.1:p.(Thr151Ile)	NC_000007.13:g.75933324C>T	(Likely) pathogenic	1 lab	6f7575ec4b
12:13724822 GRIN2B C>A	12	13724822	13724822	C	A	GRIN2B	c.2087G>T	NM_000834.5	NP_000825.2:p.(Arg696Leu)	NC_000012.11:g.13724822C>A	(Likely) pathogenic	1 lab	6f766f9962
1:156843651 NTRK1 C>A	1	156843651	156843651	C	A	NTRK1	c.1077C>A	NM_002529.4	NP_002520.2:p.(Tyr359Ter)	NC_000001.10:g.156843651C>A	(Likely) pathogenic	1 lab	6f76d5253b
7:122342769 RNF148 A>G	7	122342769	122342769	A	G	RNF148	c.36T>C	NM_198085.2	NP_932351.1:p.(Ser12=)	NC_000007.13:g.122342769A>G	(Likely) benign	1 lab	6f78788e8e
15:58861030 LIPC T>C	15	58861030	58861030	T	C	LIPC	c.*4T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58861030T>C	VUS	1 lab	6f7ac4ecca
7:105900202 MISSING Ref too long to show for this DEL>T	7	105900202	105928515	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.105900203_105928515del	VUS	1 lab	6f7cf79ce0
16:28885057 SH2B1 G>T	16	28885057	28885057	G	T	SH2B1	c.2187G>T	NM_001145795.2	NP_001139267.1:p.(Val729=)	NC_000016.9:g.28885057G>T	(Likely) benign	1 lab	6f7d918ab9
10:30638208 MTPAP T>TAA	10	30638208	30638230	T	TAA	MTPAP				NC_000010.10:g.30638229_30638230dup	(Likely) benign	1 lab	6f7e060646
3:46899729 MYL3 G>A	3	46899729	46899729	G	A	MYL3	c.*5C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899729G>A	(Likely) benign	1 lab	6f805668cd
1:181767524 CACNA1E C>A	1	181767524	181767524	C	A	CACNA1E	c.6496C>A	NM_001205293.3	NP_001192222.1:p.(Pro2166Thr)	NC_000001.10:g.181767524C>A	VUS	1 lab	6f83f2604c
19:1221202 STK11 CGAAAT>C	19	1221202	1221210	CGAAAT	C	STK11	c.735-6_735-2del	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1221206_1221210del	(Likely) benign	1 lab	6f84e3a13b
2:21234014 APOB G>A	2	21234014	21234014	G	A	APOB	c.5726C>T	NM_000384.3	NP_000375.3:p.(Ala1909Val)	NC_000002.11:g.21234014G>A	(Likely) benign	1 lab	6f867af050
2:179466397 TTN C>T	2	179466397	179466397	C	T	TTN	c.55420G>A	NM_001267550.2	NP_001254479.2:p.(Val18474Ile)	NC_000002.11:g.179466397C>T	VUS	1 lab	6f89b8bcc5
2:179446520 TTN G>A	2	179446520	179446520	G	A	TTN	c.66475C>T	NM_001267550.2	NP_001254479.2:p.(Pro22159Ser)	NC_000002.11:g.179446520G>A	VUS	1 lab	6f8c16d533
5:14471574 TRIO CAGTA>C	5	14471574	14471580	CAGTA	C	TRIO	c.5912+2_5912+5del	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14471577_14471580del	VUS	1 lab	6f8ce61e1e
2:179414286 TTN C>T	2	179414286	179414286	C	T	TTN	c.92152+11G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179414286C>T	(Likely) benign	1 lab	6f8d9a775d
19:11213373 LDLR G>A	19	11213373	11213373	G	A	LDLR	c.224G>A	NM_000527.5	NP_000518.1:p.(Cys75Tyr)	NC_000019.9:g.11213373G>A	(Likely) pathogenic	1 lab	6f8d9a8d4c
6:42672223 PRPH2 G>T	6	42672223	42672223	G	T	PRPH2	c.708C>A	NM_000322.5	NP_000313.2:p.(Tyr236Ter)	NC_000006.11:g.42672223G>T	(Likely) pathogenic	1 lab	6f8fc0488b
15:85399819 ALPK3 A>G	15	85399819	85399819	A	G	ALPK3	c.1850A>G	NM_020778.5	NP_065829.4:p.(Gln617Arg)	NC_000015.9:g.85399819A>G	VUS	1 lab	6f8ff33ef1
3:170198680 SLC7A14 C>A	3	170198680	170198680	C	A	SLC7A14	c.1391G>T	NM_020949.3	NP_066000.2:p.(Cys464Phe)	NC_000003.11:g.170198680C>A	(Likely) benign	1 lab	6f901e6eba
1:10319049 KIF1B G>A	1	10319049	10319049	G	A	KIF1B	c.363+319G>A	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10319049G>A	(Likely) benign	1 lab	6f906f8e2c
X:77243763 ATP7A C>T	X	77243763	77243763	C	T	ATP7A	c.146C>T	NM_000052.7	NP_000043.4:p.(Thr49Ile)	NC_000023.10:g.77243763C>T	VUS	1 lab	6f90c2a487
1:43396436 SLC2A1 C>T	1	43396436	43396436	C	T	SLC2A1	c.377G>A	NM_006516.4	NP_006507.2:p.(Arg126His)	NC_000001.10:g.43396436C>T	(Likely) pathogenic	1 lab	6f9163e004
12:64889263 TBK1 C>A	12	64889263	64889263	C	A	TBK1	c.1522C>A	NM_013254.4	NP_037386.1:p.(Leu508Ile)	NC_000012.11:g.64889263C>A	(Likely) benign	1 lab	6f949ee2cf
15:34528475 SLC12A6 G>A	15	34528475	34528475	G	A	SLC12A6	c.3016-75C>T	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34528475G>A	(Likely) benign	1 lab	6f979241ff
11:47367234 MYBPC3 G>A	11	47367234	47367234	G	A	MYBPC3	c.1090+524C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367234G>A	(Likely) benign	1 lab	6f98ede259
5:148407887 SH3TC2 TG>T	5	148407887	148407892	TG	T	SH3TC2	c.1407del	NM_024577.4	NP_078853.2:p.(Ile470TyrfsTer54)	NC_000005.9:g.148407892del	(Likely) pathogenic	1 lab	6f9d511fea
1:33247985 YARS1 C>T	1	33247985	33247985	C	T	YARS1	c.1042+20G>A	NM_003680.4	NP_003671.1:p.?	NC_000001.10:g.33247985C>T	(Likely) benign	1 lab	6fa406ee97
11:116661845 APOA5 C>T	11	116661845	116661845	C	T	APOA5	c.162-62G>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116661845C>T	(Likely) benign	1 lab	6fa526fe3f
2:179465702 TTN T>C	2	179465702	179465702	T	C	TTN	c.55929A>G	NM_001267550.2	NP_001254479.2:p.(Gln18643=)	NC_000002.11:g.179465702T>C	(Likely) benign	1 lab	6fa7d38ee4
9:135073926 NTNG2 G>A	9	135073926	135073926	G	A	NTNG2	c.787G>A	NM_032536.4	NP_115925.2:p.(Gly263Ser)	NC_000009.11:g.135073926G>A	VUS	1 lab	6faac8efe7
1:45292542 PTCH2 G>A	1	45292542	45292542	G	A	PTCH2	c.2695+32C>T	NM_003738.5	NP_003729.3:p.?	NC_000001.10:g.45292542G>A	(Likely) benign	1 lab	6fb3a76e62
20:10621790 JAG1 A>AAGGGGAAGGC	20	10621790	10621800	A	AAGGGGAAGGC	JAG1	c.3009_3018dup	NM_000214.3	NP_000205.1:p.(Ser1007AlafsTer8)	NC_000020.10:g.10621791_10621800dup	(Likely) pathogenic	1 lab	6fb4cd9baf
8:90996748 NBN C>T	8	90996748	90996748	C	T	NBN	c.37+5G>A	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90996748C>T	(Likely) benign	1 lab	6fb5d6a0a8
22:50895544 SBF1 A>G	22	50895544	50895544	A	G	SBF1	c.3827-4T>C	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50895544A>G	(Likely) benign	1 lab	6fb5df612f
15:23685232 GOLGA6L2 A>G	15	23685232	23685232	A	G	GOLGA6L2	c.2390T>C	NM_001304388.2	NP_001291317.1:p.(Val797Ala)	NC_000015.9:g.23685232A>G	(Likely) benign	1 lab	6fb6a710e7
8:19818042 LPL G>A	8	19818042	19818042	G	A	LPL	c.1140-370G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818042G>A	(Likely) benign	1 lab	6fb78bd417
16:77325324 ADAMTS18 C>T	16	77325324	77325324	C	T	ADAMTS18	c.3241G>A	NM_199355.4	NP_955387.1:p.(Glu1081Lys)	NC_000016.9:g.77325324C>T	VUS	1 lab	6fb868982e
9:80879149 CEP78 C>T	9	80879149	80879149	C	T	CEP78	c.1545C>T	NM_001098802.3	NP_001092272.1:p.(Ile515=)	NC_000009.11:g.80879149C>T	(Likely) benign	1 lab	6fbc3b3fb6
8:19811623 LPL C>T	8	19811623	19811623	C	T	LPL	c.542-8C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811623C>T	(Likely) benign	1 lab	6fbc3b8b44
2:63714580 WDPCP C>T	2	63714580	63714580	C	T	WDPCP	c.208+1G>A	NM_015910.7	NP_056994.3:p.?	NC_000002.11:g.63714580C>T	(Likely) pathogenic	1 lab	6fc0f17827
1:3331191 PRDM16 C>T	1	3331191	3331191	C	T	PRDM16	c.2671C>T	NM_022114.4	NP_071397.3:p.(Pro891Ser)	NC_000001.10:g.3331191C>T	VUS	1 lab	6fc114ca8d
2:179569584 TTN A>G	2	179569584	179569584	A	G	TTN	c.29694+20T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179569584A>G	(Likely) benign	1 lab	6fc3abf8a5
16:989564 LMF1 C>T	16	989564	989564	C	T	LMF1	c.-51-5310G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.989564C>T	(Likely) benign	1 lab	6fc444ce93
17:8192738 SLC25A35 G>A	17	8192738	8192738	G	A	SLC25A35	c.*196C>T	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192738G>A	(Likely) benign	1 lab	6fc47ccdbd
2:73675631 ALMS1 G>A	2	73675631	73675631	G	A	ALMS1	c.1980G>A	NM_015120.4	NP_055935.4:p.(Thr660=)	NC_000002.11:g.73675631G>A	(Likely) benign	1 lab	6fc4c29e40
1:202719789 KDM5B A>T	1	202719789	202719789	A	T	KDM5B	c.1819T>A	NM_006618.5	NP_006609.3:p.(Trp607Arg)	NC_000001.10:g.202719789A>T	VUS	1 lab	6fc7d83005
10:62029934 ANK3 G>A	10	62029934	62029934	G	A	ANK3	c.468C>T	NM_020987.5	NP_066267.2:p.(Val156=)	NC_000010.10:g.62029934G>A	(Likely) benign	1 lab	6fc802fb9b
15:72853839 ARIH1 T>A	15	72853839	72853839	T	A	ARIH1	c.753T>A	NM_005744.5	NP_005735.2:p.(Asp251Glu)	NC_000015.9:g.72853839T>A	VUS	1 lab	6fcbfb3655
6:150713491 IYD G>A	6	150713491	150713491	G	A	IYD	c.381G>A	NM_001164694.2	NP_001158166.1:p.(Pro127=)	NC_000006.11:g.150713491G>A	(Likely) benign	1 lab	6fccb99599
22:33421914 MISSING G>Alt too long to show for this DUP	22	33421914	34072645	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.33421915_34072645dup	VUS	1 lab	6fcfa0b028
11:66333869 CTSF C>T	11	66333869	66333869	C	T	CTSF	c.614G>A	NM_003793.4	NP_003784.2:p.(Arg205Gln)	NC_000011.9:g.66333869C>T	(Likely) benign	1 lab	6fcfea49c8
10:12160868 DHTKD1 C>T	10	12160868	12160868	C	T	DHTKD1	c.2523C>T	NM_018706.7	NP_061176.4:p.(Phe841=)	NC_000010.10:g.12160868C>T	(Likely) benign	1 lab	6fd778b0f0
2:179612210 TTN C>A	2	179612210	179612210	C	A	TTN	c.14917G>T	NM_133379.5	NP_596870.2:p.(Val4973Leu)	NC_000002.11:g.179612210C>A	(Likely) benign	1 lab	6fdaf3b41a
9:139275263 SNAPC4 G>A	9	139275263	139275263	G	A	SNAPC4	c.2428C>T	NM_003086.3	NP_003077.2:p.(Arg810Ter)	NC_000009.11:g.139275263G>A	(Likely) pathogenic	1 lab	6fe3e49caa
15:101115269 MISSING T>Alt too long to show for this DUP	15	101115269	101528312	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.101115271_101528312dup	VUS	1 lab	6fe5a77d2a
2:179402578 TTN T>C	2	179402578	179402578	T	C	TTN	c.99356A>G	NM_001267550.2	NP_001254479.2:p.(Gln33119Arg)	NC_000002.11:g.179402578T>C	VUS	1 lab	6fe6f999ee
15:58840571 LIPC ACCTTTTCATCGACT>A	15	58840571	58840589	ACCTTTTCATCGACT	A	LIPC	c.856_869del	NM_000236.3	NP_000227.2:p.(Phe286AlafsTer14)	NC_000015.9:g.58840576_58840589del	VUS	1 lab	6fe8cff3fe
6:32030200 TNXB G>T	6	32030200	32030200	G	T	TNXB	c.6902C>A	NM_019105.8	NP_061978.6:p.(Pro2301His)	NC_000006.11:g.32030200G>T	(Likely) benign	1 lab	6fee8d3aff
8:96281341 CFAP418 A>C	8	96281341	96281341	A	C	CFAP418	c.77T>G	NM_177965.4	NP_808880.1:p.(Met26Arg)	NC_000008.10:g.96281341A>C	(Likely) benign	1 lab	6fefeedb25
1:55521673 PCSK9 G>A	1	55521673	55521673	G	A	PCSK9	c.807G>A	NM_174936.4	NP_777596.2:p.(Glu269=)	NC_000001.10:g.55521673G>A	(Likely) benign	1 lab	6ff9d6cc09
17:523 MISSING T>Alt too long to show for this DUP	17	523	95276	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.526_95276dup	(Likely) pathogenic	1 lab	6ffae3416b
1:7309670 CAMTA1 AG>A	1	7309670	7309672	AG	A	CAMTA1	c.424del	NM_015215.4	NP_056030.1:p.(Val142SerfsTer39)	NC_000001.10:g.7309672del	(Likely) pathogenic	1 lab	6ffc7c069f
1:215990338 USH2A C>T	1	215990338	215990338	C	T	USH2A	c.9570+1G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215990338C>T	(Likely) pathogenic	1 lab	7002ba50df
2:47251555 TTC7A G>T	2	47251555	47251555	G	T	TTC7A	c.1539+57G>T	NM_001288953.2	NP_001275882.1:p.?	NC_000002.11:g.47251555G>T	(Likely) benign	1 lab	700a36e243
19:43013394 CEACAM1 A>G	19	43013394	43013394	A	G	CEACAM1	c.1462-14T>C	NM_001712.5	NP_001703.2:p.?	NC_000019.9:g.43013394A>G	(Likely) benign	1 lab	700c06e0ee
1:237586387 RYR2 A>T	1	237586387	237586387	A	T	RYR2	c.849-5A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237586387A>T	(Likely) benign	1 lab	700e03d6e2
X:41203491 DDX3X G>C	X	41203491	41203491	G	C	DDX3X	c.865-1G>C	NM_001193416.3	NP_001180345.1:p.?	NC_000023.10:g.41203491G>C	(Likely) pathogenic	1 lab	70116483a4
5:37506545 MISSING C>Alt too long to show for this DUP	5	37506545	37778846	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.37506548_37778846dup	VUS	1 lab	7011d91daa
14:74992812 LTBP2 C>T	14	74992812	74992812	C	T	LTBP2	c.2394G>A	NM_000428.3	NP_000419.1:p.(Thr798=)	NC_000014.8:g.74992812C>T	(Likely) benign	1 lab	701a1fec94
11:116662393 APOA5 G>T	11	116662393	116662393	G	T	APOA5	c.70C>A	NM_052968.5	NP_443200.2:p.(Arg24=)	NC_000011.9:g.116662393G>T	(Likely) benign	1 lab	701ab7154e
6:84798808 MRAP2 A>G	6	84798808	84798808	A	G	MRAP2	c.228-2A>G	NM_001346542.2	NP_001333471.1:p.?	NC_000006.11:g.84798808A>G	VUS	1 lab	701c9b675c
2:219679460 CYP27A1 A>G	2	219679460	219679460	A	G	CYP27A1	c.1456A>G	NM_000784.4	NP_000775.1:p.(Met486Val)	NC_000002.11:g.219679460A>G	VUS	1 lab	7020b047c7
8:59407148 CYP7A1 A>G	8	59407148	59407148	A	G	CYP7A1	c.956T>C	NM_000780.4	NP_000771.2:p.(Leu319Ser)	NC_000008.10:g.59407148A>G	VUS	1 lab	7021ce882d
16:1004371 LMF1 A>G	16	1004371	1004371	A	G	LMF1	c.162T>C	NM_001352019.2	NP_001338948.1:p.(Asn54=)	NC_000016.9:g.1004371A>G	(Likely) benign	1 lab	7021dabff0
9:137696543 COL5A1 G>A	9	137696543	137696543	G	A	COL5A1	c.3115-278G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137696543G>A	(Likely) benign	1 lab	7024d5907a
7:128488889 FLNC G>A	7	128488889	128488889	G	A	FLNC	c.4780G>A	NM_001458.5	NP_001449.3:p.(Gly1594Arg)	NC_000007.13:g.128488889G>A	VUS	1 lab	7026bd6337
11:116703582 APOC3 T>C	11	116703582	116703582	T	C	APOC3	c.282T>C	NM_000040.3	NP_000031.1:p.(Thr94=)	NC_000011.9:g.116703582T>C	(Likely) benign	1 lab	702858c3ef
5:112178710 APC T>A	5	112178710	112178710	T	A	APC	c.7419T>A	NM_000038.6	NP_000029.2:p.(Ser2473=)	NC_000005.9:g.112178710T>A	(Likely) benign	1 lab	7028984596
1:169455016 SLC19A2 G>C	1	169455016	169455016	G	C	SLC19A2	c.-12C>G	NM_006996.3	NP_008927.1:p.?	NC_000001.10:g.169455016G>C	(Likely) benign	1 lab	702b0ec24a
9:107594992 ABCA1 A>G	9	107594992	107594992	A	G	ABCA1	c.1372T>C	NM_005502.4	NP_005493.2:p.(Trp458Arg)	NC_000009.11:g.107594992A>G	VUS	1 lab	702f08fa95
X:153296824 MECP2 G>A	X	153296824	153296824	G	A	MECP2	c.455C>T	NM_004992.4	NP_004983.1:p.(Pro152Leu)	NC_000023.10:g.153296824G>A	(Likely) pathogenic	1 lab	704486c548
16:2431508 MISSING A>Alt too long to show for this DUP	16	2431508	2643288	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.2431510_2643288dup	(Likely) pathogenic	1 lab	70307980dc
2:15506832 NBAS C>T	2	15506832	15506832	C	T	NBAS	c.3704-15G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15506832C>T	(Likely) benign	1 lab	7031574dd3
9:101608297 GALNT12 C>T	9	101608297	101608297	C	T	GALNT12	c.1497C>T	NM_024642.5	NP_078918.3:p.(Asn499=)	NC_000009.11:g.101608297C>T	(Likely) benign	1 lab	7032a6829f
19:11222785 LDLR T>C	19	11222785	11222785	T	C	LDLR	c.1186+470T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222785T>C	(Likely) benign	1 lab	703312b756
2:179556739 TTN G>A	2	179556739	179556739	G	A	TTN	c.31762+4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179556739G>A	(Likely) benign	1 lab	70344a4f7f
1:55521695 PCSK9 G>C	1	55521695	55521695	G	C	PCSK9	c.829G>C	NM_174936.4	NP_777596.2:p.(Val277Leu)	NC_000001.10:g.55521695G>C	VUS	1 lab	7035084108
X:114868123 PLS3 A>C	X	114868123	114868123	A	C	PLS3	c.501-189A>C	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114868123A>C	(Likely) benign	1 lab	7040f24822
15:58855767 LIPC C>T	15	58855767	58855767	C	T	LIPC	c.1233C>T	NM_000236.3	NP_000227.2:p.(Gly411=)	NC_000015.9:g.58855767C>T	(Likely) benign	1 lab	7040fd4172
6:112506519 LAMA4 C>T	6	112506519	112506519	C	T	LAMA4	c.997G>A	NM_001105206.3	NP_001098676.2:p.(Ala333Thr)	NC_000006.11:g.112506519C>T	(Likely) benign	1 lab	70414069c7
21:27254091 APP CAAG>C	21	27254091	27254095	CAAG	C	APP	c.2212-12_2212-10del	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27254093_27254095del	(Likely) benign	1 lab	70421d1c12
1:55527028 PCSK9 C>A	1	55527028	55527028	C	A	PCSK9	c.1682-20C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527028C>A	(Likely) benign	1 lab	7047f7faf4
8:134251333 NDRG1 G>A	8	134251333	134251333	G	A	NDRG1	c.973C>T	NM_001135242.2	NP_001128714.1:p.(Arg325Trp)	NC_000008.10:g.134251333G>A	VUS	1 lab	7048001ab0
2:21231050 APOB T>C	2	21231050	21231050	T	C	APOB	c.8690A>G	NM_000384.3	NP_000375.3:p.(Lys2897Arg)	NC_000002.11:g.21231050T>C	(Likely) benign	1 lab	7056cd8291
7:91659259 AKAP9 T>C	7	91659259	91659259	T	C	AKAP9	c.4199T>C	NM_005751.5	NP_005742.4:p.(Met1400Thr)	NC_000007.13:g.91659259T>C	(Likely) benign	1 lab	705ba4d6fb
1:186024807 HMCN1 G>A	1	186024807	186024807	G	A	HMCN1	c.7144+1G>A	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186024807G>A	VUS	1 lab	705c4a17ad
5:1443007 SLC6A3 G>C	5	1443007	1443007	G	C	SLC6A3	c.286+20C>G	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1443007G>C	(Likely) benign	1 lab	705ca97985
16:15814127 MYH11 G>A	16	15814127	15814127	G	A	MYH11	c.4855C>T	NM_001040113.2	NP_001035202.1:p.(Arg1619Cys)	NC_000016.9:g.15814127G>A	VUS	1 lab	705e1df214
2:179438504 TTN C>T	2	179438504	179438504	C	T	TTN	c.72355G>A	NM_001267550.2	NP_001254479.2:p.(Val24119Ile)	NC_000002.11:g.179438504C>T	VUS	1 lab	705ea452c4
18:2667005 SMCHD1 T>C	18	2667005	2667005	T	C	SMCHD1	c.399T>C	NM_015295.3	NP_056110.2:p.(Tyr133=)	NC_000018.9:g.2667005T>C	(Likely) benign	1 lab	705f32ad96
10:18106428 MISSING T>Alt too long to show for this DUP	10	18106428	18223634	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.18106429_18223634dup	VUS	1 lab	71149db39f
11:102076801 YAP1 G>A	11	102076801	102076801	G	A	YAP1	c.980G>A	NM_001282101.2	NP_001269030.1:p.(Arg327Gln)	NC_000011.9:g.102076801G>A	VUS	1 lab	7062420e4f
11:108170530 ATM G>T	11	108170530	108170530	G	T	ATM	c.5095G>T	NM_000051.4	NP_000042.3:p.(Ala1699Ser)	NC_000011.9:g.108170530G>T	VUS	1 lab	7062c83c84
2:25973087 ASXL2 C>T	2	25973087	25973087	C	T	ASXL2	c.1338G>A	NM_018263.6	NP_060733.4:p.(Glu446=)	NC_000002.11:g.25973087C>T	(Likely) benign	1 lab	7062f21784
16:6316568 RBFOX1 Ref too long to show for this DEL>A	16	6316568	6498929	Ref too long to show for this DEL	A	RBFOX1	c.-126-50427_-64+131871del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6316569_6498929del	VUS	1 lab	7064f23f97
11:47363920 MYBPC3 C>CAG	11	47363920	47363922	C	CAG	MYBPC3	c.1624+207_1624+208dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363921_47363922dup	(Likely) benign	1 lab	7066868f44
9:21816783 MTAP T>A	9	21816783	21816783	T	A	MTAP	c.179+12T>A	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21816783T>A	(Likely) benign	1 lab	7066e99d5c
3:38645189 SCN5A CG>C	3	38645189	38645193	CG	C	SCN5A	c.1890+13del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38645193del	(Likely) benign	1 lab	706918de98
7:94044816 COL1A2 A>G	7	94044816	94044816	A	G	COL1A2	c.1764+234A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94044816A>G	(Likely) benign	1 lab	706986ab9e
2:179615237 TTN C>G	2	179615237	179615237	C	G	TTN	c.11890G>C	NM_133379.5	NP_596870.2:p.(Val3964Leu)	NC_000002.11:g.179615237C>G	(Likely) benign	1 lab	706acedaba
1:158871942 MISSING G>Alt too long to show for this DUP	1	158871942	158917224	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.158871944_158917224dup	VUS	1 lab	7073db6b41
15:40763979 CHST14 G>A	15	40763979	40763979	G	A	CHST14	c.567G>A	NM_130468.4	NP_569735.1:p.(Val189=)	NC_000015.9:g.40763979G>A	(Likely) benign	1 lab	70759befb8
2:179429004 TTN-AS1 G>A	2	179429004	179429004	G	A	TTN-AS1	n.2044-18295G>A	NR_038272.1		NC_000002.11:g.179429004G>A	(Likely) benign	1 lab	70766341b6
18:34205572 FHOD3 C>A	18	34205572	34205572	C	A	FHOD3	c.1056C>A	NM_001281740.3	NP_001268669.1:p.(Gly352=)	NC_000018.9:g.34205572C>A	(Likely) benign	1 lab	7078495aa5
12:21355085 SLCO1B1 T>C	12	21355085	21355085	T	C	SLCO1B1	c.1136-340T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21355085T>C	(Likely) benign	1 lab	707d731aea
11:71948536 INPPL1 C>G	11	71948536	71948536	C	G	INPPL1	c.3248C>G	NM_001567.4	NP_001558.3:p.(Ala1083Gly)	NC_000011.9:g.71948536C>G	(Likely) benign	1 lab	708963e373
12:5153820 KCNA5 G>T	12	5153820	5153820	G	T	KCNA5	c.507G>T	NM_002234.4	NP_002225.2:p.(Arg169=)	NC_000012.11:g.5153820G>T	(Likely) benign	1 lab	708a33c1bb
7:140434586 BRAF G>GA	7	140434586	140434596	G	GA	BRAF	c.2128-17dup	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434596dup	(Likely) benign	1 lab	708be6024b
1:55524220 PCSK9 C>T	1	55524220	55524220	C	T	PCSK9	c.1403C>T	NM_174936.4	NP_777596.2:p.(Thr468Ile)	NC_000001.10:g.55524220C>T	VUS	1 lab	708d5e9365
7:103301887 RELN C>T	7	103301887	103301887	C	T	RELN	c.1377G>A	NM_005045.4	NP_005036.2:p.(Arg459=)	NC_000007.13:g.103301887C>T	(Likely) benign	1 lab	708df8c799
7:87762210 ADAM22 G>A	7	87762210	87762210	G	A	ADAM22	c.1021G>A	NM_021723.5	NP_068369.1:p.(Gly341Arg)	NC_000007.13:g.87762210G>A	VUS	1 lab	708e1a0514
16:57003600 CETP G>GTCAAGC	16	57003600	57003606	G	GTCAAGC	CETP	c.439+8_439+13dup	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003601_57003606dup	(Likely) benign	1 lab	70997cf584
5:180041149 FLT4 C>T	5	180041149	180041149	C	T	FLT4	c.3250G>A	NM_182925.5	NP_891555.2:p.(Glu1084Lys)	NC_000005.9:g.180041149C>T	(Likely) pathogenic	1 lab	709db17257
10:75873922 VCL G>GT	10	75873922	75873923	G	GT	VCL	c.2746-19dup	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75873923dup	(Likely) benign	1 lab	709fe463cd
11:45986864 PHF21A A>G	11	45986864	45986864	A	G	PHF21A	c.993+2T>C	NM_001101802.3	NP_001095272.1:p.?	NC_000011.9:g.45986864A>G	VUS	1 lab	709fea4db3
7:114268621 FOXP2 T>TC	7	114268621	114268625	T	TC	FOXP2	c.364dup	NM_148898.4	NP_683696.2:p.(Gln122ProfsTer169)	NC_000007.13:g.114268625dup	(Likely) pathogenic	1 lab	70a12e1706
X:153490611 OPN1MW2 A>C	X	153490611	153490611	A	C	OPN1MW2	c.347A>C	NM_001048181.2	NP_001041646.1:p.(Tyr116Ser)	NC_000023.10:g.153490611A>C	(Likely) benign	1 lab	70a3ddbc6e
9:107579666 ABCA1 C>T	9	107579666	107579666	C	T	ABCA1	c.3482G>A	NM_005502.4	NP_005493.2:p.(Ser1161Asn)	NC_000009.11:g.107579666C>T	(Likely) benign	1 lab	70a77967b7
2:44052168 ABCG5 A>C	2	44052168	44052168	A	C	ABCG5	c.775-11T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052168A>C	VUS	1 lab	70a83705f8
9:137677149 COL5A1 C>T	9	137677149	137677149	C	T	COL5A1	c.2592+207C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137677149C>T	(Likely) benign	1 lab	70aa8eb66e
16:23641614 PALB2 G>T	16	23641614	23641614	G	T	PALB2	c.1861C>A	NM_024675.4	NP_078951.2:p.(Pro621Thr)	NC_000016.9:g.23641614G>T	(Likely) benign	1 lab	70ab5ab2c8
5:38484860 LIFR A>G	5	38484860	38484860	A	G	LIFR	c.2591+17T>C	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38484860A>G	(Likely) benign	1 lab	70abe77abf
19:46281828 DMPK C>T	19	46281828	46281828	C	T	DMPK	c.534G>A	NM_001081563.2	NP_001075032.1:p.(Pro178=)	NC_000019.9:g.46281828C>T	(Likely) benign	1 lab	70aeedec0a
14:105180903 INF2 C>T	14	105180903	105180903	C	T	INF2	c.3404C>T	NM_022489.4	NP_071934.3:p.(Thr1135Met)	NC_000014.8:g.105180903C>T	(Likely) benign	1 lab	70b0f6c620
19:11238769 LDLR C>T	19	11238769	11238769	C	T	LDLR	c.2389+8C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238769C>T	(Likely) benign	1 lab	70b66284c0
1:218599869 TGFB2 G>A	1	218599869	218599869	G	A	TGFB2	c.511-7555G>A	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218599869G>A	(Likely) benign	1 lab	70b7fe5122
10:55892664 PCDH15 T>C	10	55892664	55892664	T	C	PCDH15	c.1903A>G	NM_001142771.2	NP_001136243.1:p.(Arg635Gly)	NC_000010.10:g.55892664T>C	VUS	1 lab	70b82446c3
2:21235168 APOB G>A	2	21235168	21235168	G	A	APOB	c.4572C>T	NM_000384.3	NP_000375.3:p.(Ser1524=)	NC_000002.11:g.21235168G>A	(Likely) benign	1 lab	70b83c85d7
2:1167338 SNTG2 T>Alt too long to show for this DUP	2	1167338	1207686	T	Alt too long to show for this DUP	SNTG2	c.500-1439_719+2770dup	NM_018968.4	NP_061841.2:p.?	NC_000002.11:g.1167339_1207686dup	(Likely) pathogenic	1 lab	70bbd2bb6c
2:179478781 TTN A>G	2	179478781	179478781	A	G	TTN	c.49343T>C	NM_001267550.2	NP_001254479.2:p.(Phe16448Ser)	NC_000002.11:g.179478781A>G	VUS	1 lab	70bc70d23c
11:116706961 APOA1 G>T	11	116706961	116706961	G	T	APOA1	c.40C>A	NM_001318021.1	NP_001304950.1:p.(Pro14Thr)	NC_000011.9:g.116706961G>T	VUS	1 lab	70bcbaf5df
X:70444119 GJB1 A>G	X	70444119	70444119	A	G	GJB1	c.562A>G	NM_000166.6	NP_000157.1:p.(Thr188Ala)	NC_000023.10:g.70444119A>G	(Likely) pathogenic	1 lab	70bf9b24d6
22:24109703 CHCHD10 C>T	22	24109703	24109703	C	T	CHCHD10	c.119G>A	NM_001301339.2	NP_001288268.1:p.(Gly40Asp)	NC_000022.10:g.24109703C>T	(Likely) benign	1 lab	70bfeab3de
5:7897283 MTRR G>A	5	7897283	7897283	G	A	MTRR	c.1875G>A	NM_002454.3	NP_002445.2:p.(Val625=)	NC_000005.9:g.7897283G>A	(Likely) benign	1 lab	70c196ae7f
4:16010570 PROM1 A>G	4	16010570	16010570	A	G	PROM1	c.1301+2T>C	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.16010570A>G	(Likely) pathogenic	1 lab	70c3071084
11:47370459 MYBPC3 T>TTA	11	47370459	47370478	T	TTA	MYBPC3	c.655-369_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370477_47370478dup	(Likely) benign	1 lab	70c3821367
1:20974802 PINK1 A>G	1	20974802	20974802	A	G	PINK1	c.1124-196A>G	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20974802A>G	(Likely) benign	1 lab	70c569afee
10:55626626 PCDH15 A>AG	10	55626626	55626630	A	AG	PCDH15	c.3517-10dup	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55626630dup	(Likely) benign	1 lab	70c76c2387
17:36894658 PCGF2 A>G	17	36894658	36894658	A	G	PCGF2	c.524T>C	NM_007144.3	NP_009075.1:p.(Met175Thr)	NC_000017.10:g.36894658A>G	VUS	1 lab	70c7bc3ab5
10:91005559 LIPA A>G	10	91005559	91005559	A	G	LIPA	c.112-9T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005559A>G	(Likely) benign	1 lab	70c8973aa5
11:116703791 MISSING G>Alt too long to show for this DUP	11	116703791	116978743	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.116703793_116978743dup	VUS	1 lab	70c9b38d55
3:100455574 TFG T>G	3	100455574	100455574	T	G	TFG	c.721+14T>G	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100455574T>G	(Likely) benign	1 lab	70c9fe0d0b
2:101795972 MISSING C>Alt too long to show for this DUP	2	101795972	102026972	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.101795973_102026972dup	VUS	1 lab	70cc7dc14a
20:42815133 JPH2 C>T	20	42815133	42815133	C	T	JPH2	c.213G>A	NM_020433.5	NP_065166.2:p.(Gly71=)	NC_000020.10:g.42815133C>T	(Likely) benign	1 lab	70cdde6c56
X:153083344 MISSING G>Alt too long to show for this DUP	X	153083344	153505539	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153083346_153505539dup	(Likely) pathogenic	1 lab	70cea6874e
7:128481261 FLNC A>G	7	128481261	128481261	A	G	FLNC	c.1851A>G	NM_001458.5	NP_001449.3:p.(Glu617=)	NC_000007.13:g.128481261A>G	(Likely) benign	1 lab	70cfb87fde
1:15657031 FHAD1 Ref too long to show for this DEL>G	1	15657031	15678825	Ref too long to show for this DEL	G	FHAD1	c.1906+997_2455-548del	NM_001391957.1	NP_001378886.1:p.?	NC_000001.10:g.15657034_15678825del	VUS	1 lab	70d1530e4c
3:61874 MISSING Ref too long to show for this DEL>T	3	61874	7143565	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.61875_7143565del	(Likely) pathogenic	1 lab	70d3fe2e4e
8:19809329 LPL A>G	8	19809329	19809329	A	G	LPL	c.299A>G	NM_000237.3	NP_000228.1:p.(Tyr100Cys)	NC_000008.10:g.19809329A>G	VUS	1 lab	70d446ea4b
10:112540816 RBM20 C>T	10	112540816	112540816	C	T	RBM20	c.449C>T	NM_001134363.3	NP_001127835.2:p.(Ala150Val)	NC_000010.10:g.112540816C>T	VUS	1 lab	70d5e3595d
3:11244839 MISSING C>Alt too long to show for this DUP	3	11244839	11476699	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.11244841_11476699dup	VUS	1 lab	70d69b269d
10:97392770 ALDH18A1 G>A	10	97392770	97392770	G	A	ALDH18A1	c.754C>T	NM_002860.4	NP_002851.2:p.(Arg252Ter)	NC_000010.10:g.97392770G>A	(Likely) pathogenic	1 lab	70d77bb22f
9:139390648 NOTCH1 CAG>C	9	139390648	139390650	CAG	C	NOTCH1	c.7541_7542del	NM_017617.5	NP_060087.3:p.(Pro2514ArgfsTer4)	NC_000009.11:g.139390649_139390650del	VUS	1 lab	70d83a4c58
6:2094760 MISSING T>Alt too long to show for this DUP	6	2094760	2775133	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.2094762_2775133dup	VUS	1 lab	70dcc11c3a
19:11223684 LDLR T>TTG	19	11223684	11223688	T	TTG	LDLR	c.1187-267_1187-266dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223687_11223688dup	(Likely) benign	1 lab	70de5f1373
1:150297339 PRPF3 T>C	1	150297339	150297339	T	C	PRPF3	c.-48-14T>C	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297339T>C	(Likely) benign	1 lab	70e175913c
14:23893130 MYH7 C>T	14	23893130	23893130	C	T	MYH7	c.2908G>A	NM_000257.4	NP_000248.2:p.(Ala970Thr)	NC_000014.8:g.23893130C>T	VUS	1 lab	70e1a47236
4:55968597 KDR G>A	4	55968597	55968597	G	A	KDR	c.2066C>T	NM_002253.3	NP_002244.1:p.(Thr689Met)	NC_000004.11:g.55968597G>A	(Likely) benign	1 lab	70e66f707b
16:81396175 GAN C>T	16	81396175	81396175	C	T	GAN	c.1045C>T	NM_022041.4	NP_071324.1:p.(Pro349Ser)	NC_000016.9:g.81396175C>T	VUS	1 lab	70e6ab2ddb
9:137713867 COL5A1 G>A	9	137713867	137713867	G	A	COL5A1	c.4555-76G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137713867G>A	(Likely) benign	1 lab	70e7d70972
8:42868477 HOOK3 A>G	8	42868477	42868477	A	G	HOOK3	c.1950A>G	NM_032410.4	NP_115786.1:p.(Glu650=)	NC_000008.10:g.42868477A>G	(Likely) benign	1 lab	70e8aecd19
19:17013506 CPAMD8 G>T	19	17013506	17013506	G	T	CPAMD8	c.4638C>A	NM_015692.5	NP_056507.3:p.(Ala1546=)	NC_000019.9:g.17013506G>T	(Likely) benign	1 lab	70e907cfd0
4:994788 IDUA G>A	4	994788	994788	G	A	IDUA	c.493+11G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.994788G>A	(Likely) benign	1 lab	70ece8a901
2:44101079 ABCG8 C>T	2	44101079	44101079	C	T	ABCG8	c.1365C>T	NM_022437.3	NP_071882.1:p.(Ile455=)	NC_000002.11:g.44101079C>T	(Likely) benign	1 lab	70f25ed5ea
22:50904225 SBF1 C>T	22	50904225	50904225	C	T	SBF1	c.1056G>A	NM_002972.4	NP_002963.2:p.(Pro352=)	NC_000022.10:g.50904225C>T	(Likely) benign	1 lab	70ff9e15e8
19:40902295 PRX G>A	19	40902295	40902295	G	A	PRX	c.1964C>T	NM_181882.3	NP_870998.2:p.(Pro655Leu)	NC_000019.9:g.40902295G>A	(Likely) benign	1 lab	710428690c
1:12061468 MFN2 A>G	1	12061468	12061468	A	G	MFN2	c.827A>G	NM_014874.4	NP_055689.1:p.(Gln276Arg)	NC_000001.10:g.12061468A>G	(Likely) pathogenic	1 lab	7106c2e1be
17:7909683 GUCY2D C>T	17	7909683	7909683	C	T	GUCY2D	c.1029C>T	NM_000180.4	NP_000171.1:p.(Val343=)	NC_000017.10:g.7909683C>T	(Likely) benign	1 lab	7108227486
8:34908094 MISSING A>Alt too long to show for this DUP	8	34908094	35148624	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.34908097_35148624dup	VUS	1 lab	710d4b1445
8:38279295 FGFR1 G>A	8	38279295	38279295	G	A	FGFR1	c.1081+20C>T	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38279295G>A	(Likely) benign	1 lab	710e77dec2
2:121746887 GLI2 G>A	2	121746887	121746887	G	A	GLI2	c.3397G>A	NM_001371271.1	NP_001358200.1:p.(Ala1133Thr)	NC_000002.11:g.121746887G>A	(Likely) benign	1 lab	71100cf862
21:40748799 WRB A>Alt too long to show for this DUP	21	40748799	40787816	A	Alt too long to show for this DUP	WRB				NC_000021.8:g.40748800_40787816dup	VUS	1 lab	7112f7e754
4:981596 IDUA GC>G	4	981596	981602	GC	G	IDUA	c.164del	NM_000203.5	NP_000194.2:p.(Pro55ArgfsTer53)	NC_000004.11:g.981602del	(Likely) pathogenic	1 lab	7113ce000b
18:47102211 LIPG C>CT	18	47102211	47102225	C	CT	LIPG	c.793+265dup	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47102225dup	(Likely) benign	1 lab	7119455b98
14:64604595 SYNE2 G>A	14	64604595	64604595	G	A	SYNE2	c.14737G>A	NM_182914.3	NP_878918.2:p.(Glu4913Lys)	NC_000014.8:g.64604595G>A	(Likely) benign	1 lab	711c017732
12:125284742 SCARB1 C>T	12	125284742	125284742	C	T	SCARB1	c.1056G>A	NM_001367981.1	NP_001354910.1:p.(Pro352=)	NC_000012.11:g.125284742C>T	(Likely) benign	1 lab	7122fdecaa
2:189975075 COL5A2 A>G	2	189975075	189975075	A	G	COL5A2	c.198T>C	NM_000393.5	NP_000384.2:p.(Asn66=)	NC_000002.11:g.189975075A>G	(Likely) benign	1 lab	7126732126
22:50657065 TUBGCP6 G>A	22	50657065	50657065	G	A	TUBGCP6	c.4822-16C>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50657065G>A	(Likely) benign	1 lab	7126d62b42
17:36486464 GPR179 C>T	17	36486464	36486464	C	T	GPR179	c.2988G>A	NM_001004334.4	NP_001004334.3:p.(Glu996=)	NC_000017.10:g.36486464C>T	(Likely) benign	1 lab	712b92978b
17:45216169 CDC27 T>G	17	45216169	45216169	T	G	CDC27	c.1658A>C	NM_001114091.4	NP_001107563.1:p.(Gln553Pro)	NC_000017.10:g.45216169T>G	(Likely) benign	1 lab	712e7a57c9
15:58855937 LIPC A>C	15	58855937	58855937	A	C	LIPC	c.1388+15A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855937A>C	(Likely) benign	1 lab	71332dc202
2:179429311 TTN G>A	2	179429311	179429311	G	A	TTN	c.81548C>T	NM_001267550.2	NP_001254479.2:p.(Thr27183Ile)	NC_000002.11:g.179429311G>A	VUS	1 lab	713411ce36
15:72030269 THSD4 C>T	15	72030269	72030269	C	T	THSD4	c.1829C>T	NM_024817.2	NP_079093.2:p.(Pro610Leu)	NC_000015.9:g.72030269C>T	(Likely) benign	1 lab	713892150e
2:179453885 TTN T>G	2	179453885	179453885	T	G	TTN	c.62567A>C	NM_001267550.2	NP_001254479.2:p.(Tyr20856Ser)	NC_000002.11:g.179453885T>G	VUS	1 lab	713a03e7f1
19:11221335 LDLR C>T	19	11221335	11221335	C	T	LDLR	c.948C>T	NM_000527.5	NP_000518.1:p.(Asn316=)	NC_000019.9:g.11221335C>T	(Likely) benign	1 lab	713b3617c6
6:153019150 MISSING T>Alt too long to show for this DUP	6	153019150	153090616	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.153019151_153090616dup	VUS	1 lab	71406b6e02
9:107589232 ABCA1 G>A	9	107589232	107589232	G	A	ABCA1	c.2334C>T	NM_005502.4	NP_005493.2:p.(Phe778=)	NC_000009.11:g.107589232G>A	(Likely) benign	1 lab	7143d8d344
9:34506729 DNAI1 G>A	9	34506729	34506729	G	A	DNAI1	c.1180G>A	NM_001281428.2	NP_001268357.1:p.(Asp394Asn)	NC_000009.11:g.34506729G>A	VUS	1 lab	7144c090cb
X:70443844 GJB1 C>T	X	70443844	70443844	C	T	GJB1	c.287C>T	NM_000166.6	NP_000157.1:p.(Ala96Val)	NC_000023.10:g.70443844C>T	VUS	1 lab	7145146b91
9:130258261 LRSAM1 C>A	9	130258261	130258261	C	A	LRSAM1	c.1717C>A	NM_001384142.1	NP_001371071.1:p.(Gln573Lys)	NC_000009.11:g.130258261C>A	VUS	1 lab	7145a20631
12:21331973 SLCO1B1 A>G	12	21331973	21331973	A	G	SLCO1B1	c.727+19A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331973A>G	(Likely) benign	1 lab	7146b60d08
10:88476297 LDB3 C>T	10	88476297	88476297	C	T	LDB3	c.1460C>T	NM_001171610.2	NP_001165081.1:p.(Ala487Val)	NC_000010.10:g.88476297C>T	VUS	1 lab	71473d9e78
7:150649792 KCNH2 G>A	7	150649792	150649792	G	A	KCNH2	c.1278C>T	NM_000238.4	NP_000229.1:p.(Pro426=)	NC_000007.13:g.150649792G>A	(Likely) benign	1 lab	7147e8ca1c
11:47368180 MYBPC3 C>T	11	47368180	47368180	C	T	MYBPC3	c.924G>A	NM_000256.3	NP_000247.2:p.(Pro308=)	NC_000011.9:g.47368180C>T	(Likely) benign	1 lab	7148a3d011
X:70443680 GJB1 G>C	X	70443680	70443680	G	C	GJB1	c.123G>C	NM_000166.6	NP_000157.1:p.(Glu41Asp)	NC_000023.10:g.70443680G>C	(Likely) pathogenic	1 lab	714cd667c1
9:137710554 COL5A1 AG>A	9	137710554	137710559	AG	A	COL5A1	c.4288del	NM_000093.5	NP_000084.3:p.(Ala1430ProfsTer58)	NC_000009.11:g.137710559del	(Likely) pathogenic	1 lab	7150f0ce88
6:150716612 IYD C>T	6	150716612	150716612	C	T	IYD	c.709C>T	NM_001164694.2	NP_001158166.1:p.(Arg237Trp)	NC_000006.11:g.150716612C>T	(Likely) benign	1 lab	7151744f55
2:121746538 GLI2 C>T	2	121746538	121746538	C	T	GLI2	c.3048C>T	NM_005270.5	NP_005261.2:p.(Asp1016=)	NC_000002.11:g.121746538C>T	(Likely) benign	1 lab	7153cc9d94
12:122252681 SETD1B G>A	12	122252681	122252681	G	A	SETD1B	c.2560G>A	NM_001353345.2	NP_001340274.1:p.(Glu854Lys)	NC_000012.11:g.122252681G>A	VUS	1 lab	715488ebf4
1:201058497 CACNA1S G>T	1	201058497	201058497	G	T	CACNA1S	c.789C>A	NM_000069.3	NP_000060.2:p.(Gly263=)	NC_000001.10:g.201058497G>T	(Likely) benign	1 lab	715913dee4
19:11234463 LDLR A>AT	19	11234463	11234474	A	AT	LDLR	c.2311+454dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234474dup	(Likely) benign	1 lab	7159c21f4d
1:186057881 HMCN1 A>G	1	186057881	186057881	A	G	HMCN1	c.9721A>G	NM_031935.3	NP_114141.2:p.(Ile3241Val)	NC_000001.10:g.186057881A>G	(Likely) benign	1 lab	715a3671aa
2:223632110 MISSING C>Alt too long to show for this DUP	2	223632110	223729649	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.223632111_223729649dup	VUS	1 lab	715a372687
2:167083182 SCN9A G>A	2	167083182	167083182	G	A	SCN9A	c.4260C>T	NM_002977.3	NP_002968.1:p.(Leu1420=)	NC_000002.11:g.167083182G>A	(Likely) benign	1 lab	715b3319e0
9:139399974 NOTCH1 C>G	9	139399974	139399974	C	G	NOTCH1	c.4374G>C	NM_017617.5	NP_060087.3:p.(Ala1458=)	NC_000009.11:g.139399974C>G	(Likely) benign	1 lab	715bb3bc56
1:78392067 NEXN GAAATAGGCTAATTATCTATTTTATA>G	1	78392067	78392099	GAAATAGGCTAATTATCTATTTTATA	G	NEXN	c.490-24_490del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392075_78392099del	VUS	1 lab	71695fc01c
10:28878762 WAC CAA>C	10	28878762	28878766	CAA	C	WAC	c.482_483del	NM_016628.5	NP_057712.2:p.(Lys161ArgfsTer4)	NC_000010.10:g.28878765_28878766del	(Likely) pathogenic	1 lab	716e40497c
1:196645147 CFH C>T	1	196645147	196645147	C	T	CFH	c.379C>T	NM_000186.4	NP_000177.2:p.(Arg127Cys)	NC_000001.10:g.196645147C>T	(Likely) pathogenic	1 lab	717297d0de
15:85402993 ALPK3 T>C	15	85402993	85402993	T	C	ALPK3	c.3966-14T>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402993T>C	(Likely) benign	1 lab	7178c3c0ef
19:4826193 MISSING A>Alt too long to show for this DUP	19	4826193	4868756	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.4826197_4868756dup	VUS	1 lab	717d032299
6:100896570 SIM1 A>T	6	100896570	100896570	A	T	SIM1	c.544-16T>A	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100896570A>T	(Likely) benign	1 lab	717d859e36
8:144999684 PLEC A>G	8	144999684	144999684	A	G	PLEC	c.4824T>C	NM_201380.4	NP_958782.1:p.(Ala1608=)	NC_000008.10:g.144999684A>G	(Likely) benign	1 lab	717df90075
2:25053704 ADCY3 A>G	2	25053704	25053704	A	G	ADCY3	c.2122-10T>C	NM_001377128.1	NP_001364057.1:p.?	NC_000002.11:g.25053704A>G	(Likely) benign	1 lab	71803a1b27
2:21226112 APOB T>A	2	21226112	21226112	T	A	APOB	c.12182A>T	NM_000384.3	NP_000375.3:p.(Glu4061Val)	NC_000002.11:g.21226112T>A	VUS	1 lab	7183959149
12:125270840 SCARB1 C>T	12	125270840	125270840	C	T	SCARB1	c.1464G>A	NM_001367981.1	NP_001354910.1:p.(Gly488=)	NC_000012.11:g.125270840C>T	(Likely) benign	1 lab	718d62e9d3
17:45232088 CDC27 T>C	17	45232088	45232088	T	C	CDC27	c.907A>G	NM_001114091.4	NP_001107563.1:p.(Asn303Asp)	NC_000017.10:g.45232088T>C	(Likely) benign	1 lab	718e2b5c6b
2:179429301 TTN-AS1 A>G	2	179429301	179429301	A	G	TTN-AS1	n.2044-17998A>G	NR_038272.1		NC_000002.11:g.179429301A>G	(Likely) benign	1 lab	718e9d2e37
9:86354663 GKAP1 TA>T	9	86354663	86354678	TA	T	GKAP1	c.1054-5del	NM_025211.4	NP_079487.2:p.?	NC_000009.11:g.86354678del	(Likely) benign	1 lab	718f79e51d
1:248059353 OR2W3 C>T	1	248059353	248059353	C	T	OR2W3	c.465C>T	NM_001001957.2	NP_001001957.2:p.(Asn155=)	NC_000001.10:g.248059353C>T	(Likely) benign	1 lab	71939f5996
18:10759840 PIEZO2 C>A	18	10759840	10759840	C	A	PIEZO2	c.3443G>T	NM_022068.4	NP_071351.2:p.(Cys1148Phe)	NC_000018.9:g.10759840C>A	(Likely) benign	1 lab	719550cde5
5:251166 SDHA G>A	5	251166	251166	G	A	SDHA	c.1611G>A	NM_004168.4	NP_004159.2:p.(Gly537=)	NC_000005.9:g.251166G>A	(Likely) benign	1 lab	719949fd56
1:1747194 GNB1 C>T	1	1747194	1747194	C	T	GNB1	c.203+1G>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1747194C>T	(Likely) pathogenic	1 lab	7199abbe2d
12:50498458 GPD1 A>T	12	50498458	50498458	A	T	GPD1	c.143A>T	NM_005276.4	NP_005267.2:p.(Lys48Ile)	NC_000012.11:g.50498458A>T	VUS	1 lab	719a0c1372
1:236925489 ACTN2 C>T	1	236925489	236925489	C	T	ACTN2	c.2527-272C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236925489C>T	(Likely) benign	1 lab	719c92c567
1:241482238 MISSING C>Alt too long to show for this DUP	1	241482238	241885891	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.241482239_241885891dup	VUS	1 lab	719d508f56
X:38145388 RPGR C>T	X	38145388	38145388	C	T	RPGR	c.2864G>A	NM_001034853.2	NP_001030025.1:p.(Trp955Ter)	NC_000023.10:g.38145388C>T	(Likely) pathogenic	1 lab	719f2c1c14
1:33276346 YARS1 G>A	1	33276346	33276346	G	A	YARS1	c.226C>T	NM_003680.4	NP_003671.1:p.(Leu76Phe)	NC_000001.10:g.33276346G>A	VUS	1 lab	7234b8bdce
15:44918589 SPG11 C>T	15	44918589	44918589	C	T	SPG11	c.2184G>A	NM_025137.4	NP_079413.3:p.(Leu728=)	NC_000015.9:g.44918589C>T	(Likely) benign	1 lab	71a1e23d70
X:152710845 TREX2 A>T	X	152710845	152710845	A	T	TREX2	c.44T>A	NM_080701.4	NP_542432.2:p.(Leu15Gln)	NC_000023.10:g.152710845A>T	(Likely) benign	1 lab	71a237b64f
1:237947621 RYR2 G>T	1	237947621	237947621	G	T	RYR2	c.12609G>T	NM_001035.3	NP_001026.2:p.(Ala4203=)	NC_000001.10:g.237947621G>T	(Likely) benign	1 lab	71a5184041
10:81471597 NUTM2B C>G	10	81471597	81471597	C	G	NUTM2B	c.1993C>G	NM_001278495.2	NP_001265424.1:p.(Gln665Glu)	NC_000010.10:g.81471597C>G	(Likely) benign	1 lab	71a581e8f0
7:151875101 KMT2C A>T	7	151875101	151875101	A	T	KMT2C	c.7443-6T>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875101A>T	(Likely) benign	1 lab	71aaa251f4
14:105181153 INF2 C>T	14	105181153	105181153	C	T	INF2	c.3654C>T	NM_022489.4	NP_071934.3:p.(Thr1218=)	NC_000014.8:g.105181153C>T	(Likely) benign	1 lab	71ad913b06
5:149506103 PDGFRB G>A	5	149506103	149506103	G	A	PDGFRB	c.1654C>T	NM_002609.4	NP_002600.1:p.(Leu552Phe)	NC_000005.9:g.149506103G>A	VUS	1 lab	71ad99dc73
4:100534121 MTTP G>A	4	100534121	100534121	G	A	MTTP	c.2041G>A	NM_000253.4	NP_000244.2:p.(Glu681Lys)	NC_000004.11:g.100534121G>A	VUS	1 lab	71b01ccb4f
2:64126623 VPS54 T>A	2	64126623	64126623	T	A	VPS54	c.2718A>T	NM_016516.3	NP_057600.2:p.(Pro906=)	NC_000002.11:g.64126623T>A	(Likely) benign	1 lab	71b06313fc
7:94037156 COL1A2 T>A	7	94037156	94037156	T	A	COL1A2	c.595-3T>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037156T>A	(Likely) benign	1 lab	71b099058f
4:108816880 SGMS2 G>A	4	108816880	108816880	G	A	SGMS2	c.171G>A	NM_152621.6	NP_689834.1:p.(Pro57=)	NC_000004.11:g.108816880G>A	(Likely) benign	1 lab	71b29ae91c
9:101804327 COL15A1 G>T	9	101804327	101804327	G	T	COL15A1	c.2512G>T	NM_001855.5	NP_001846.3:p.(Gly838Cys)	NC_000009.11:g.101804327G>T	VUS	1 lab	71b3660388
2:73718638 ALMS1 G>C	2	73718638	73718638	G	C	ALMS1	c.9542+13G>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73718638G>C	(Likely) benign	1 lab	71b4ff3092
14:75002720 LTBP2 C>T	14	75002720	75002720	C	T	LTBP2	c.1790-17G>A	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.75002720C>T	(Likely) benign	1 lab	71b53a059f
19:11224044 LDLR T>G	19	11224044	11224044	T	G	LDLR	c.1277T>G	NM_000527.5	NP_000518.1:p.(Leu426Arg)	NC_000019.9:g.11224044T>G	(Likely) pathogenic	1 lab	71b542da7e
11:121414366 SORL1 A>G	11	121414366	121414366	A	G	SORL1	c.1795A>G	NM_003105.6	NP_003096.2:p.(Ile599Val)	NC_000011.9:g.121414366A>G	(Likely) benign	1 lab	71b6a87740
1:55521786 PCSK9 C>A	1	55521786	55521786	C	A	PCSK9	c.920C>A	NM_174936.4	NP_777596.2:p.(Ala307Asp)	NC_000001.10:g.55521786C>A	VUS	1 lab	71b9d5bc26
2:44105071 ABCG8 C>T	2	44105071	44105071	C	T	ABCG8	c.*19C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44105071C>T	VUS	1 lab	71b9e95fc0
7:47377058 TNS3 A>Alt too long to show for this DUP	7	47377058	47469435	A	Alt too long to show for this DUP	TNS3	c.325-1461_2650+7294dup	NM_022748.12	NP_073585.8:p.?	NC_000007.13:g.47377059_47469435dup	VUS	1 lab	71ba0abe7d
10:88441299 LDB3 G>A	10	88441299	88441299	G	A	LDB3	c.428G>A	NM_001171610.2	NP_001165081.1:p.(Ser143Asn)	NC_000010.10:g.88441299G>A	VUS	1 lab	71ba7707a8
16:1004554 LMF1 C>T	16	1004554	1004554	C	T	LMF1	c.306G>A	NM_022773.4	NP_073610.2:p.(Thr102=)	NC_000016.9:g.1004554C>T	(Likely) benign	1 lab	71bcab6139
6:73835608 MISSING Ref too long to show for this DEL>G	6	73835608	76759806	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.73835611_76759806del	(Likely) pathogenic	1 lab	71bf5f6271
3:193335990 OPA1 G>A	3	193335990	193335990	G	A	OPA1	c.610+364G>A	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193335990G>A	(Likely) pathogenic	1 lab	71c6e7f752
X:32456469 DMD T>C	X	32456469	32456469	T	C	DMD	c.3960A>G	NM_004006.3	NP_003997.2:p.(Pro1320=)	NC_000023.10:g.32456469T>C	(Likely) benign	1 lab	71c71ef10d
1:74737269 FPGT-TNNI3K T>C	1	74737269	74737269	T	C	FPGT-TNNI3K	c.637-13T>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74737269T>C	(Likely) benign	1 lab	71ca75161a
X:153001938 ABCD1 TCCGTGTG>T	X	153001938	153001945	TCCGTGTG	T	ABCD1	c.1365_1371del	NM_000033.4	NP_000024.2:p.(Val457AlafsTer3)	NC_000023.10:g.153001939_153001945del	(Likely) pathogenic	1 lab	71d112e620
15:85399707 ALPK3 G>A	15	85399707	85399707	G	A	ALPK3	c.1738G>A	NM_020778.5	NP_065829.4:p.(Gly580Arg)	NC_000015.9:g.85399707G>A	VUS	1 lab	71d114fa40
1:236908006 ACTN2 G>T	1	236908006	236908006	G	T	ACTN2	c.712G>T	NM_001278344.2	NP_001265273.1:p.(Ala238Ser)	NC_000001.10:g.236908006G>T	VUS	1 lab	71d1a4288f
20:9389726 PLCB4 C>T	20	9389726	9389726	C	T	PLCB4	c.1861C>T	NM_000933.4	NP_000924.3:p.(Arg621Cys)	NC_000020.10:g.9389726C>T	(Likely) pathogenic	1 lab	71d1c935aa
6:135732464 AHI1 C>CTTTAA	6	135732464	135732465	C	CTTTAA	AHI1	c.2961+21_2961+22insTTAAA	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135732464_135732465insTTTAA	(Likely) benign	1 lab	71d337b34f
2:179571457 TTN G>A	2	179571457	179571457	G	A	TTN	c.29144C>T	NM_001267550.2	NP_001254479.2:p.(Ala9715Val)	NC_000002.11:g.179571457G>A	VUS	1 lab	71d5a6aa52
4:113359801 ALPK1 T>C	4	113359801	113359801	T	C	ALPK1	c.3350T>C	NM_025144.4	NP_079420.3:p.(Leu1117Pro)	NC_000004.11:g.113359801T>C	(Likely) benign	1 lab	71d5f8c6b2
12:8808648 MFAP5 C>T	12	8808648	8808648	C	T	MFAP5	c.95-222G>A	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8808648C>T	(Likely) benign	1 lab	71d9cd5044
7:18046640 MISSING Ref too long to show for this DEL>T	7	18046640	18061981	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.18046643_18061981del	VUS	1 lab	71db607015
17:7788364 CHD3 G>GCCA	17	7788364	7788369	G	GCCA	CHD3	c.243_245dup	NM_001005271.3	NP_001005271.2:p.(Pro82dup)	NC_000017.10:g.7788367_7788369dup	(Likely) benign	1 lab	71de68fed1
2:44102284 ABCG8 G>T	2	44102284	44102284	G	T	ABCG8	c.1489-1G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102284G>T	(Likely) pathogenic	1 lab	71df8965ce
X:150817141 PASD1 CGCT>C	X	150817141	150817165	CGCT	C	PASD1	c.706_708del	NM_173493.3	NP_775764.2:p.(Ala236del)	NC_000023.10:g.150817163_150817165del	(Likely) benign	1 lab	71e29f9fad
3:160253688 KPNA4 T>TA	3	160253688	160253713	T	TA	KPNA4	c.115-4dup	NM_002268.5	NP_002259.1:p.?	NC_000003.11:g.160253713dup	(Likely) benign	1 lab	71e430cbce
8:59409265 CYP7A1 G>T	8	59409265	59409265	G	T	CYP7A1	c.806C>A	NM_000780.4	NP_000771.2:p.(Thr269Asn)	NC_000008.10:g.59409265G>T	VUS	1 lab	71e4b02bd1
4:22438281 ADGRA3 A>C	4	22438281	22438281	A	C	ADGRA3	c.1086-17T>G	NM_145290.4	NP_660333.2:p.?	NC_000004.11:g.22438281A>C	(Likely) benign	1 lab	71e59e7fe0
5:80024739 MSH3 A>G	5	80024739	80024739	A	G	MSH3	c.1523A>G	NM_002439.5	NP_002430.3:p.(Lys508Arg)	NC_000005.9:g.80024739A>G	VUS	1 lab	71e6f349d1
11:116701905 APOC3 ATTTC>A	11	116701905	116701973	ATTTC	A	APOC3	c.179+358_179+361del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701970_116701973del	(Likely) benign	1 lab	71eec6413a
6:7576570 DSP C>T	6	7576570	7576570	C	T	DSP	c.2674C>T	NM_004415.4	NP_004406.2:p.(Arg892Cys)	NC_000006.11:g.7576570C>T	VUS	1 lab	71f70dcf20
X:130411893 IGSF1 G>C	X	130411893	130411893	G	C	IGSF1	c.2272C>G	NM_001170961.2	NP_001164432.1:p.(His758Asp)	NC_000023.10:g.130411893G>C	VUS	1 lab	71f8195dfd
9:137620570 COL5A1 G>A	9	137620570	137620570	G	A	COL5A1	c.841G>A	NM_000093.5	NP_000084.3:p.(Glu281Lys)	NC_000009.11:g.137620570G>A	VUS	1 lab	71f91c3e4b
2:105329663 MISSING Ref too long to show for this DEL>T	2	105329663	109080126	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.105329666_109080126del	(Likely) pathogenic	1 lab	71fa601f0b
6:4783031 MISSING Ref too long to show for this DEL>C	6	4783031	5214983	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.4783034_5214983del	VUS	1 lab	71fab06b26
9:111678494 ELP1 C>T	9	111678494	111678494	C	T	ELP1	c.948G>A	NM_003640.5	NP_003631.2:p.(Pro316=)	NC_000009.11:g.111678494C>T	(Likely) benign	1 lab	71fb1091bd
11:61725648 BEST1 C>T	11	61725648	61725648	C	T	BEST1	c.565C>T	NM_001139443.2	NP_001132915.1:p.(Leu189=)	NC_000011.9:g.61725648C>T	(Likely) benign	1 lab	71fb9d9885
7:26235483 HNRNPA2B1 A>G	7	26235483	26235483	A	G	HNRNPA2B1	c.741T>C	NM_031243.3	NP_112533.1:p.(Tyr247=)	NC_000007.13:g.26235483A>G	(Likely) benign	1 lab	71fc1a0bea
3:4829670 ITPR1 C>T	3	4829670	4829670	C	T	ITPR1	c.6610C>T	NM_001168272.2	NP_001161744.1:p.(Pro2204Ser)	NC_000003.11:g.4829670C>T	VUS	1 lab	71fdb9d3fb
1:35250676 GJB3 C>A	1	35250676	35250676	C	A	GJB3	c.313C>A	NM_024009.3	NP_076872.1:p.(His105Asn)	NC_000001.10:g.35250676C>A	(Likely) benign	1 lab	7200158e85
11:68154196 LRP5 G>GCTGGGGC	11	68154196	68154207	G	GCTGGGGC	LRP5	c.1412+21_1412+27dup	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68154201_68154207dup	(Likely) benign	1 lab	72028e5ec1
11:47362226 MYBPC3 TAAAA>T	11	47362226	47362231	TAAAA	T	MYBPC3	c.1927+324_1927+327del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362228_47362231del	(Likely) benign	1 lab	720537259c
8:22064513 BMP1 A>C	8	22064513	22064513	A	C	BMP1	c.2361+19A>C	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22064513A>C	(Likely) benign	1 lab	7226091095
3:38647447 SCN5A G>C	3	38647447	38647447	G	C	SCN5A	c.1333C>G	NM_198056.3	NP_932173.1:p.(His445Asp)	NC_000003.11:g.38647447G>C	VUS	1 lab	7205f7a18c
2:179454011 TTN C>G	2	179454011	179454011	C	G	TTN	c.62441G>C	NM_001267550.2	NP_001254479.2:p.(Arg20814Thr)	NC_000002.11:g.179454011C>G	VUS	1 lab	7207ed28bf
19:50902217 POLD1 G>A	19	50902217	50902217	G	A	POLD1	c.109G>A	NM_002691.4	NP_002682.2:p.(Asp37Asn)	NC_000019.9:g.50902217G>A	VUS	1 lab	7209fc577e
9:2719110 KCNV2 C>T	9	2719110	2719110	C	T	KCNV2	c.1356+15C>T	NM_133497.4	NP_598004.1:p.?	NC_000009.11:g.2719110C>T	(Likely) benign	1 lab	720a537675
10:89623751 PTEN T>C	10	89623751	89623751	T	C	PTEN	c.-476T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623751T>C	(Likely) benign	1 lab	720a66aecf
2:113810307 MISSING Ref too long to show for this DEL>A	2	113810307	113912876	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.113810308_113912876del	VUS	1 lab	720b80615e
17:42429918 GRN G>C	17	42429918	42429918	G	C	GRN	c.1623G>C	NM_002087.4	NP_002078.1:p.(Trp541Cys)	NC_000017.10:g.42429918G>C	VUS	1 lab	720c32af9a
11:19206563 CSRP3 G>A	11	19206563	19206563	G	A	CSRP3	c.444C>T	NM_003476.5	NP_003467.1:p.(Ala148=)	NC_000011.9:g.19206563G>A	(Likely) benign	1 lab	720d62467f
15:52652166 MYO5A T>A	15	52652166	52652166	T	A	MYO5A	c.3422A>T	NM_000259.3	NP_000250.3:p.(Glu1141Val)	NC_000015.9:g.52652166T>A	VUS	1 lab	720ff11f49
17:7907040 GUCY2D AG>A	17	7907040	7907041	AG	A	GUCY2D	c.676del	NM_000180.4	NP_000171.1:p.(Ala226ProfsTer5)	NC_000017.10:g.7907041del	(Likely) pathogenic	1 lab	7214a079af
2:233632887 KCNJ13 A>G	2	233632887	233632887	A	G	KCNJ13	c.*14T>C	NM_002242.4	NP_002233.2:p.?	NC_000002.11:g.233632887A>G	(Likely) benign	1 lab	7215394bb8
6:7579622 DSP G>T	6	7579622	7579622	G	T	DSP	c.3199G>T	NM_004415.4	NP_004406.2:p.(Ala1067Ser)	NC_000006.11:g.7579622G>T	VUS	1 lab	7216c01fb9
X:46713034 RP2 G>T	X	46713034	46713034	G	T	RP2	c.226G>T	NM_006915.3	NP_008846.2:p.(Asp76Tyr)	NC_000023.10:g.46713034G>T	VUS	1 lab	72173a2bc0
4:164050118 NAF1 A>G	4	164050118	164050118	A	G	NAF1	c.1416T>C	NM_138386.3	NP_612395.2:p.(Pro472=)	NC_000004.11:g.164050118A>G	(Likely) benign	1 lab	7218a44088
17:45302685 MISSING Ref too long to show for this DEL>A	17	45302685	45314443	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.45302686_45314443del	VUS	1 lab	721afea2ca
10:85978933 CDHR1 G>A	10	85978933	85978933	G	A	CDHR1	c.2139G>A	NM_001171971.3	NP_001165442.1:p.(Gln713=)	NC_000010.10:g.85978933G>A	(Likely) benign	1 lab	7221613c9f
3:17213775 TBC1D5 Ref too long to show for this DEL>T	3	17213775	17383351	Ref too long to show for this DEL	T	TBC1D5	c.995+30219_1919-4456del	NM_001349074.2	NP_001336003.1:p.?	NC_000003.11:g.17213779_17383351del	VUS	1 lab	72243796ac
16:920857 LMF1 G>A	16	920857	920857	G	A	LMF1	c.705C>T	NM_001352018.2	NP_001338947.1:p.(Asn235=)	NC_000016.9:g.920857G>A	(Likely) benign	1 lab	722a9e417e
9:107549827 ABCA1 G>A	9	107549827	107549827	G	A	ABCA1	c.6204+374C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549827G>A	(Likely) benign	1 lab	722c4f1b80
2:44047231 ABCG5 C>T	2	44047231	44047231	C	T	ABCG5	c.1472G>A	NM_022436.3	NP_071881.1:p.(Gly491Asp)	NC_000002.11:g.44047231C>T	VUS	1 lab	722d2ec827
11:108117717 ATM A>G	11	108117717	108117717	A	G	ATM	c.928A>G	NM_000051.4	NP_000042.3:p.(Ser310Gly)	NC_000011.9:g.108117717A>G	VUS	1 lab	722d72ae49
15:58834717 LIPC C>T	15	58834717	58834717	C	T	LIPC	c.457-16C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834717C>T	(Likely) benign	1 lab	722ea5f1bf
3:123339134 MYLK A>G	3	123339134	123339134	A	G	MYLK	c.5288T>C	NM_053025.4	NP_444253.3:p.(Met1763Thr)	NC_000003.11:g.123339134A>G	VUS	1 lab	722ecb2d94
20:20461400 RALGAPA2 Ref too long to show for this DEL>A	20	20461400	20585900	Ref too long to show for this DEL	A	RALGAPA2	c.1957_5368-7801del	NM_020343.4	NP_065076.2:p.?	NC_000020.10:g.20461401_20585900del	VUS	1 lab	722fb79591
11:64525739 PYGM C>A	11	64525739	64525739	C	A	PYGM	c.507G>T	NM_005609.4	NP_005600.1:p.(Gln169His)	NC_000011.9:g.64525739C>A	(Likely) pathogenic	1 lab	72310c70fb
20:10620248 JAG1 G>A	20	10620248	10620248	G	A	JAG1	c.3555C>T	NM_000214.3	NP_000205.1:p.(Pro1185=)	NC_000020.10:g.10620248G>A	(Likely) benign	1 lab	7231153f30
6:32036906 TNXB C>T	6	32036906	32036906	C	T	TNXB	c.5595G>A	NM_019105.8	NP_061978.6:p.(Arg1865=)	NC_000006.11:g.32036906C>T	(Likely) benign	1 lab	72321780b9
20:17968901 MGME1 AC>A	20	17968901	17968902	AC	A	MGME1	c.825del	NM_052865.4	NP_443097.1:p.(Tyr275Ter)	NC_000020.10:g.17968902del	(Likely) pathogenic	1 lab	7234382ef3
9:107593334 ABCA1 G>A	9	107593334	107593334	G	A	ABCA1	c.1764C>T	NM_005502.4	NP_005493.2:p.(Tyr588=)	NC_000009.11:g.107593334G>A	(Likely) benign	1 lab	7234ec75fe
16:1004559 LMF1 T>A	16	1004559	1004559	T	A	LMF1	c.301A>T	NM_022773.4	NP_073610.2:p.(Arg101Trp)	NC_000016.9:g.1004559T>A	VUS	1 lab	7238424f02
1:40767475 COL9A2 A>G	1	40767475	40767475	A	G	COL9A2	c.1870+9T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40767475A>G	(Likely) benign	1 lab	723984e43f
10:68138967 CTNNA3 C>T	10	68138967	68138967	C	T	CTNNA3	c.1675G>A	NM_013266.4	NP_037398.2:p.(Glu559Lys)	NC_000010.10:g.68138967C>T	VUS	1 lab	7239c07e83
2:1488616 TPO A>C	2	1488616	1488616	A	C	TPO	c.1587A>C	NM_001206744.2	NP_001193673.1:p.(Leu529Phe)	NC_000002.11:g.1488616A>C	(Likely) benign	1 lab	723b3e2812
3:38663954 SCN5A G>GTGCACATGA	3	38663954	38663965	G	GTGCACATGA	SCN5A	c.410_418dup	NM_198056.3	NP_932173.1:p.(Ile137_Cys139dup)	NC_000003.11:g.38663957_38663965dup	VUS	1 lab	723befdea3
5:145843084 TCERG1 Ref too long to show for this DEL>G	5	145843084	145849253	Ref too long to show for this DEL	G	TCERG1	c.893-26_1345del	NM_001382548.1	NP_001369477.1:p.?	NC_000005.9:g.145843088_145849253del	VUS	1 lab	723eddafc7
22:19026477 DGCR2 G>A	22	19026477	19026477	G	A	DGCR2	c.1554C>T	NM_005137.3	NP_005128.1:p.(Leu518=)	NC_000022.10:g.19026477G>A	(Likely) benign	1 lab	724033d1d3
15:40700006 IVD G>GTT	15	40700006	40700008	G	GTT	IVD	c.314_319=	NM_001354599.3	NP_001341528.2:p.(Ser105_Leu107=)	NC_000015.9:g.40700007_40700008dup	(Likely) benign	1 lab	724082a085
17:43675407 MISSING C>Alt too long to show for this DUP	17	43675407	44364070	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.43675410_44364070dup	(Likely) pathogenic	1 lab	724136eedd
4:100496096 MTTP C>G	4	100496096	100496096	C	G	MTTP	c.30C>G	NM_000253.4	NP_000244.2:p.(Cys10Trp)	NC_000004.11:g.100496096C>G	VUS	1 lab	724156c064
2:179499554 TTN CCTT>C	2	179499554	179499559	CCTT	C	TTN	c.42044_42046del	NM_001267550.2	NP_001254479.2:p.(Glu14015del)	NC_000002.11:g.179499557_179499559del	VUS	1 lab	72463f911f
2:179411970 TTN G>C	2	179411970	179411970	G	C	TTN	c.94282C>G	NM_001267550.2	NP_001254479.2:p.(Arg31428Gly)	NC_000002.11:g.179411970G>C	(Likely) benign	1 lab	7248134bf0
12:58022502 B4GALNT1 G>A	12	58022502	58022502	G	A	B4GALNT1	c.996C>T	NM_001478.5	NP_001469.1:p.(Phe332=)	NC_000012.11:g.58022502G>A	(Likely) benign	1 lab	724825258f
2:61719275 XPO1 T>C	2	61719275	61719275	T	C	XPO1	c.1782A>G	NM_003400.4	NP_003391.1:p.(Lys594=)	NC_000002.11:g.61719275T>C	(Likely) benign	1 lab	72492408a1
16:941738 LMF1 G>A	16	941738	941738	G	A	LMF1	c.330+1269C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.941738G>A	(Likely) benign	1 lab	724a8dfb68
2:179572236 TTN T>A	2	179572236	179572236	T	A	TTN	c.29041+17A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179572236T>A	(Likely) benign	1 lab	724ae1452a
14:94845938 SERPINA1 A>G	14	94845938	94845938	A	G	SERPINA1	c.928T>C	NM_001127701.2	NP_001121173.1:p.(Leu310=)	NC_000014.8:g.94845938A>G	(Likely) benign	1 lab	724bbd0d21
X:48368334 PORCN C>G	X	48368334	48368334	C	G	PORCN	c.126C>G	NM_203475.3	NP_982301.1:p.(Leu42=)	NC_000023.10:g.48368334C>G	(Likely) benign	1 lab	725412e2ad
11:47358820 MYBPC3 C>T	11	47358820	47358820	C	T	MYBPC3	c.2602+122G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358820C>T	(Likely) benign	1 lab	72591dcfae
9:137664463 COL5A1 C>T	9	137664463	137664463	C	T	COL5A1	c.2287-173C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664463C>T	(Likely) benign	1 lab	7259a527d0
6:36322468 ETV7 C>A	6	36322468	36322468	C	A	ETV7	c.909-4G>T	NM_001207035.2	NP_001193964.1:p.?	NC_000006.11:g.36322468C>A	(Likely) benign	1 lab	725c91092e
2:189876439 COL3A1 A>C	2	189876439	189876439	A	C	COL3A1	c.4340A>C	NM_000090.4	NP_000081.2:p.(Tyr1447Ser)	NC_000002.11:g.189876439A>C	VUS	1 lab	725cb004b7
16:919834 LMF1 A>T	16	919834	919834	A	T	LMF1	c.1017+49T>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919834A>T	(Likely) benign	1 lab	726a1cebd5
2:12769 MISSING Ref too long to show for this DEL>T	2	12769	1522940	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.12772_1522940del	VUS	1 lab	726b0ee477
9:72561164 MISSING Ref too long to show for this DEL>A	9	72561164	72758778	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.72561166_72758778del	VUS	1 lab	726d379d8b
19:11226897 LDLR G>A	19	11226897	11226897	G	A	LDLR	c.1705+9G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226897G>A	(Likely) benign	1 lab	726f1f4c1e
1:236900598 ACTN2 C>CATATATAT	1	236900598	236900618	C	CATATATAT	ACTN2	c.876+97_876+104dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900611_236900618dup	(Likely) benign	1 lab	7271b4d110
20:57415557 GNAS C>A	20	57415557	57415557	C	A	GNAS	c.396C>A	NM_016592.5	NP_057676.1:p.(Ala132=)	NC_000020.10:g.57415557C>A	(Likely) benign	1 lab	7279eea256
6:169648775 THBS2 C>T	6	169648775	169648775	C	T	THBS2	c.346G>A	NM_003247.5	NP_003238.2:p.(Val116Ile)	NC_000006.11:g.169648775C>T	(Likely) benign	1 lab	727ba2dc26
11:63403022 ATL3 G>C	11	63403022	63403022	G	C	ATL3	c.1019C>G	NM_015459.5	NP_056274.3:p.(Pro340Arg)	NC_000011.9:g.63403022G>C	VUS	1 lab	727c7f37bb
2:21260059 APOB T>A	2	21260059	21260059	T	A	APOB	c.606A>T	NM_000384.3	NP_000375.3:p.(Glu202Asp)	NC_000002.11:g.21260059T>A	(Likely) benign	1 lab	727e5e8017
3:170216451 SLC7A14 C>T	3	170216451	170216451	C	T	SLC7A14	c.759+5G>A	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170216451C>T	VUS	1 lab	727eafaa8d
7:39990964 CDK13 C>T	7	39990964	39990964	C	T	CDK13	c.724C>T	NM_003718.5	NP_003709.3:p.(Arg242Trp)	NC_000007.13:g.39990964C>T	VUS	1 lab	7297162753
2:179504471 TTN G>C	2	179504471	179504471	G	C	TTN	c.40831C>G	NM_001267550.2	NP_001254479.2:p.(Pro13611Ala)	NC_000002.11:g.179504471G>C	VUS	1 lab	72825bad3b
1:7724315 CAMTA1 C>A	1	7724315	7724315	C	A	CAMTA1	c.1708C>A	NM_015215.4	NP_056030.1:p.(Pro570Thr)	NC_000001.10:g.7724315C>A	(Likely) benign	1 lab	7284e66109
20:10639324 JAG1 G>A	20	10639324	10639324	G	A	JAG1	c.486C>T	NM_000214.3	NP_000205.1:p.(Asn162=)	NC_000020.10:g.10639324G>A	(Likely) benign	1 lab	7287b07434
2:96940792 SNRNP200 G>A	2	96940792	96940792	G	A	SNRNP200	c.6369C>T	NM_014014.5	NP_054733.2:p.(Ser2123=)	NC_000002.11:g.96940792G>A	(Likely) benign	1 lab	728bad98bf
8:35574542 MISSING Ref too long to show for this DEL>T	8	35574542	35752869	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.35574543_35752869del	VUS	1 lab	728cd3ddca
16:89346122 ANKRD11 C>CG	16	89346122	89346126	C	CG	ANKRD11	c.6827dup	NM_001256182.2	NP_001243111.1:p.(Asn2277GlufsTer19)	NC_000016.9:g.89346126dup	(Likely) pathogenic	1 lab	729141970e
X:70443030 GJB1 T>G	X	70443030	70443030	T	G	GJB1				NC_000023.10:g.70443030T>G	(Likely) pathogenic	1 lab	729315d414
9:107585345 ABCA1 G>GA	9	107585345	107585358	G	GA	ABCA1	c.2657-398dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585358dup	(Likely) benign	1 lab	7297342903
15:72637960 HEXA C>T	15	72637960	72637960	C	T	HEXA	c.1422-69G>A	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72637960C>T	(Likely) benign	1 lab	72986314e9
12:32996157 PKP2 C>T	12	32996157	32996157	C	T	PKP2	c.1469G>A	NM_004572.4	NP_004563.2:p.(Arg490Gln)	NC_000012.11:g.32996157C>T	VUS	1 lab	729a10a1f4
17:41234560 BRCA1 C>A	17	41234560	41234560	C	A	BRCA1	c.4218G>T	NM_007294.4	NP_009225.1:p.(Lys1406Asn)	NC_000017.10:g.41234560C>A	(Likely) benign	1 lab	729e504b89
2:179606118 TTN G>A	2	179606118	179606118	G	A	TTN	c.11842C>T	NM_001267550.2	NP_001254479.2:p.(Arg3948Cys)	NC_000002.11:g.179606118G>A	VUS	1 lab	72a2d8d7bf
1:6531650 PLEKHG5 C>T	1	6531650	6531650	C	T	PLEKHG5	c.1179G>A	NM_198681.4	NP_941374.3:p.(Leu393=)	NC_000001.10:g.6531650C>T	(Likely) benign	1 lab	72a3a328c6
3:188339394 LPP Ref too long to show for this DEL>A	3	188339394	188586040	Ref too long to show for this DEL	A	LPP	c.1113+11765_1589+1874del	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.188339397_188586040del	VUS	1 lab	72a54e3085
19:55316470 KIR2DL4 T>C	19	55316470	55316470	T	C	KIR2DL4	c.299T>C	NM_001080772.2	NP_001074241.1:p.(Phe100Ser)	NC_000019.9:g.55316470T>C	(Likely) benign	1 lab	72a6248094
5:155378413 SGCD A>Alt too long to show for this DUP	5	155378413	156196000	A	Alt too long to show for this DUP	SGCD				NC_000005.9:g.155378414_156196000dup	VUS	1 lab	733dcf3c10
15:40648398 PHGR1 G>A	15	40648398	40648398	G	A	PHGR1	c.143G>A	NM_001145643.2	NP_001139115.1:p.(Gly48Asp)	NC_000015.9:g.40648398G>A	(Likely) benign	1 lab	72a7c1cddb
15:56387864 RFX7 G>A	15	56387864	56387864	G	A	RFX7	c.2062C>T	NM_001370561.1	NP_001357490.1:p.(Gln688Ter)	NC_000015.9:g.56387864G>A	(Likely) pathogenic	1 lab	72a85c9273
17:48272827 COL1A1 C>T	17	48272827	48272827	C	T	COL1A1	c.1168G>A	NM_000088.4	NP_000079.2:p.(Ala390Thr)	NC_000017.10:g.48272827C>T	(Likely) benign	1 lab	72a8b8a69f
19:55370539 KIR3DL2 C>T	19	55370539	55370539	C	T	KIR3DL2	c.955C>T	NM_006737.4	NP_006728.2:p.(Pro319Ser)	NC_000019.9:g.55370539C>T	(Likely) benign	1 lab	72aac5649c
17:63554864 AXIN2 AAAGG>A	17	63554864	63554872	AAAGG	A	AXIN2	c.-116-14_-116-11del	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63554869_63554872del	(Likely) benign	1 lab	72ac1da55e
19:33424357 CEP89 C>T	19	33424357	33424357	C	T	CEP89	c.886G>A	NM_032816.5	NP_116205.3:p.(Val296Ile)	NC_000019.9:g.33424357C>T	VUS	1 lab	72ad269b2f
15:58840701 LIPC C>A	15	58840701	58840701	C	A	LIPC	c.981C>A	NM_000236.3	NP_000227.2:p.(His327Gln)	NC_000015.9:g.58840701C>A	VUS	1 lab	72af8a53d8
9:136221516 SURF1 G>A	9	136221516	136221516	G	A	SURF1	c.321C>T	NM_003172.4	NP_003163.1:p.(Ala107=)	NC_000009.11:g.136221516G>A	(Likely) benign	1 lab	72b0bccdc6
11:68703687 IGHMBP2 C>A	11	68703687	68703687	C	A	IGHMBP2	c.1757-18C>A	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68703687C>A	(Likely) benign	1 lab	72b25bbcfa
2:179518615 TTN A>T	2	179518615	179518615	A	T	TTN	c.31742-1347T>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179518615A>T	VUS	1 lab	72b515cd5c
14:76425647 TGFB3 G>C	14	76425647	76425647	G	C	TGFB3	c.1122C>G	NM_003239.5	NP_003230.1:p.(Ala374=)	NC_000014.8:g.76425647G>C	(Likely) benign	1 lab	72b68265b4
22:50886997 SBF1 C>T	22	50886997	50886997	C	T	SBF1	c.5126G>A	NM_002972.4	NP_002963.2:p.(Arg1709His)	NC_000022.10:g.50886997C>T	VUS	1 lab	72b9b53cce
7:55211096 EGFR C>T	7	55211096	55211096	C	T	EGFR	c.339C>T	NM_005228.5	NP_005219.2:p.(Tyr113=)	NC_000007.13:g.55211096C>T	(Likely) benign	1 lab	72bf9e5e58
17:7976638 ALOX12B T>C	17	7976638	7976638	T	C	ALOX12B	c.1756-2A>G	NM_001139.3	NP_001130.1:p.?	NC_000017.10:g.7976638T>C	(Likely) pathogenic	1 lab	72c15a6347
2:179596569 TTN C>T	2	179596569	179596569	C	T	TTN	c.17033G>A	NM_001267550.2	NP_001254479.2:p.(Arg5678Gln)	NC_000002.11:g.179596569C>T	VUS	1 lab	72cc63951d
17:73518111 TSEN54 G>T	17	73518111	73518111	G	T	TSEN54	c.949G>T	NM_207346.3	NP_997229.2:p.(Ala317Ser)	NC_000017.10:g.73518111G>T	VUS	1 lab	72cfe10d86
19:47259676 FKRP C>T	19	47259676	47259676	C	T	FKRP	c.969C>T	NM_001039885.3	NP_001034974.1:p.(Arg323=)	NC_000019.9:g.47259676C>T	(Likely) benign	1 lab	72d0650b0f
22:51065416 ARSA C>T	22	51065416	51065416	C	T	ARSA	c.530G>A	NM_000487.6	NP_000478.3:p.(Gly177Asp)	NC_000022.10:g.51065416C>T	VUS	1 lab	72d2b5b744
7:100635954 MUC12 A>G	7	100635954	100635954	A	G	MUC12	c.2110A>G	NM_001164462.1	NP_001157934.1:p.(Ser704Gly)	NC_000007.13:g.100635954A>G	(Likely) benign	1 lab	72d3e25d57
2:1457463 TPO C>G	2	1457463	1457463	C	G	TPO	c.483-3C>G	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1457463C>G	(Likely) pathogenic	1 lab	72da80b6bc
10:64946090 JMJD1C C>T	10	64946090	64946090	C	T	JMJD1C	c.6624G>A	NM_032776.3	NP_116165.1:p.(Ala2208=)	NC_000010.10:g.64946090C>T	(Likely) benign	1 lab	72dbc57cdf
7:104746097 KMT2E GAAGAA>G	7	104746097	104746107	GAAGAA	G	KMT2E	c.2414_2418del	NM_182931.3	NP_891847.1:p.(Lys805ThrfsTer3)	NC_000007.13:g.104746103_104746107del	(Likely) pathogenic	1 lab	72dd35435b
X:107978360 IRS4 A>G	X	107978360	107978360	A	G	IRS4	c.1215T>C	NM_003604.2	NP_003595.1:p.(Pro405=)	NC_000023.10:g.107978360A>G	(Likely) benign	1 lab	72ddbc7670
1:94476203 ABCA4 CT>C	1	94476203	94476204	CT	C	ABCA4	c.5714+152del	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476204del	(Likely) benign	1 lab	72ddfb495b
2:179425532 TTN C>T	2	179425532	179425532	C	T	TTN	c.85327G>A	NM_001267550.2	NP_001254479.2:p.(Val28443Ile)	NC_000002.11:g.179425532C>T	VUS	1 lab	72dea6e415
1:248437002 OR2T33 C>T	1	248437002	248437002	C	T	OR2T33	c.115G>A	NM_001004695.2	NP_001004695.1:p.(Gly39Ser)	NC_000001.10:g.248437002C>T	(Likely) benign	1 lab	72e16716fd
11:68682320 IGHMBP2 C>T	11	68682320	68682320	C	T	IGHMBP2	c.741C>T	NM_002180.3	NP_002171.2:p.(Ala247=)	NC_000011.9:g.68682320C>T	(Likely) benign	1 lab	72e4ec653c
10:112581409 RBM20 C>G	10	112581409	112581409	C	G	RBM20	c.3032C>G	NM_001134363.3	NP_001127835.2:p.(Ala1011Gly)	NC_000010.10:g.112581409C>G	VUS	1 lab	72e66a02e7
13:87356087 MISSING Ref too long to show for this DEL>G	13	87356087	91186456	Ref too long to show for this DEL	G	MISSING				NC_000013.10:g.87356090_91186456del	(Likely) pathogenic	1 lab	72ea5b3226
14:102498795 DYNC1H1 A>G	14	102498795	102498795	A	G	DYNC1H1	c.10070A>G	NM_001376.5	NP_001367.2:p.(Glu3357Gly)	NC_000014.8:g.102498795A>G	VUS	1 lab	72eacd8aa4
8:133142004 KCNQ3 G>T	8	133142004	133142004	G	T	KCNQ3	c.2124C>A	NM_004519.4	NP_004510.1:p.(Ser708Arg)	NC_000008.10:g.133142004G>T	VUS	1 lab	72ec927dc2
4:123855815 AFG2A G>C	4	123855815	123855815	G	C	AFG2A	c.1069G>C	NM_145207.3	NP_660208.2:p.(Gly357Arg)	NC_000004.11:g.123855815G>C	(Likely) pathogenic	1 lab	72ec954563
22:41587015 MISSING A>Alt too long to show for this DUP	22	41587015	41631784	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.41587017_41631784dup	VUS	1 lab	72ed81535b
19:11200073 LDLR C>T	19	11200073	11200073	C	T	LDLR				NC_000019.9:g.11200073C>T	(Likely) pathogenic	1 lab	72edebfbff
12:5517734 MISSING G>Alt too long to show for this DUP	12	5517734	6281842	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.5517739_6281842dup	VUS	1 lab	251fd54476
14:57272066 OTX2 G>A	14	57272066	57272066	G	A	OTX2	c.97+12C>T	NM_001270524.2	NP_001257453.1:p.?	NC_000014.8:g.57272066G>A	(Likely) benign	1 lab	72f5ec77d4
5:133945369 SAR1B CA>C	5	133945369	133945374	CA	C	SAR1B	c.245-6del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133945374del	(Likely) benign	1 lab	72f9663806
9:107576395 ABCA1 A>T	9	107576395	107576395	A	T	ABCA1	c.3901+4T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576395A>T	(Likely) benign	1 lab	72fa75713b
1:64800536 MISSING Ref too long to show for this DEL>G	1	64800536	65399309	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.64800538_65399309del	VUS	1 lab	72fe98a955
5:82817874 VCAN T>G	5	82817874	82817874	T	G	VCAN	c.3749T>G	NM_004385.5	NP_004376.2:p.(Ile1250Ser)	NC_000005.9:g.82817874T>G	VUS	1 lab	72ffd67c14
15:48802615 FBN1 C>T	15	48802615	48802615	C	T	FBN1	c.1589-249G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48802615C>T	(Likely) benign	1 lab	730653a6b2
2:21266751 APOB C>CCAGCAG	2	21266751	21266770	C	CCAGCAG	APOB	c.61_66dup	NM_000384.3	NP_000375.3:p.(Leu21_Leu22dup)	NC_000002.11:g.21266765_21266770dup	(Likely) benign	1 lab	7307e20abc
1:17338460 ATP13A2 G>A	1	17338460	17338460	G	A	ATP13A2				NC_000001.10:g.17338460G>A	(Likely) benign	1 lab	730857de82
X:70444347 GJB1 C>T	X	70444347	70444347	C	T	GJB1	c.790C>T	NM_000166.6	NP_000157.1:p.(Arg264Cys)	NC_000023.10:g.70444347C>T	(Likely) pathogenic	1 lab	7308c44fac
1:147230554 GJA5 G>A	1	147230554	147230554	G	A	GJA5	c.793C>T	NM_005266.7	NP_005257.2:p.(Pro265Ser)	NC_000001.10:g.147230554G>A	VUS	1 lab	73090d0ace
1:94497562 ABCA4 T>C	1	94497562	94497562	T	C	ABCA4	c.3900A>G	NM_000350.3	NP_000341.2:p.(Arg1300=)	NC_000001.10:g.94497562T>C	(Likely) benign	1 lab	7313d4994b
17:9066226 NTN1 G>A	17	9066226	9066226	G	A	NTN1	c.1115G>A	NM_004822.3	NP_004813.2:p.(Arg372His)	NC_000017.10:g.9066226G>A	VUS	1 lab	740dad7095
3:150661763 CLRN1 G>A	3	150661763	150661763	G	A	CLRN1	c.269C>T	NM_001256819.2	NP_001243748.1:p.(Pro90Leu)	NC_000003.11:g.150661763G>A	VUS	1 lab	7314cfc1c0
9:94794687 SPTLC1 G>A	9	94794687	94794687	G	A	SPTLC1	c.1450C>T	NM_001281303.2	NP_001268232.1:p.(Arg484Cys)	NC_000009.11:g.94794687G>A	VUS	1 lab	731597fa6a
19:11226774 LDLR A>ATGTAC	19	11226774	11226781	A	ATGTAC	LDLR	c.1594_1598dup	NM_000527.5	NP_000518.1:p.(Trp533CysfsTer17)	NC_000019.9:g.11226777_11226781dup	(Likely) pathogenic	1 lab	7315a3f036
18:25565146 CDH2 T>C	18	25565146	25565146	T	C	CDH2	c.2027A>G	NM_001792.5	NP_001783.2:p.(Tyr676Cys)	NC_000018.9:g.25565146T>C	(Likely) pathogenic	1 lab	7319610d4f
11:108129692 ATM CTTTG>C	11	108129692	108129701	CTTTG	C	ATM	c.2377-15_2377-12del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129698_108129701del	(Likely) benign	1 lab	731d647d19
20:60738566 SS18L1 C>T	20	60738566	60738566	C	T	SS18L1	c.216C>T	NM_001301778.2	NP_001288707.1:p.(Gly72=)	NC_000020.10:g.60738566C>T	(Likely) benign	1 lab	732283274a
2:44099192 ABCG8 C>G	2	44099192	44099192	C	G	ABCG8	c.1042C>G	NM_022437.3	NP_071882.1:p.(Leu348Val)	NC_000002.11:g.44099192C>G	VUS	1 lab	7322e81304
8:134270589 NDRG1 A>G	8	134270589	134270589	A	G	NDRG1	c.450+20T>C	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134270589A>G	(Likely) benign	1 lab	732647a6c3
1:236714292 HEATR1 T>TAAAAAA	1	236714292	236714310	T	TAAAAAA	HEATR1	c.6347-8_6347-3dup	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714305_236714310dup	(Likely) benign	1 lab	732e944613
12:21375233 SLCO1B1 G>T	12	21375233	21375233	G	T	SLCO1B1	c.1683-1G>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375233G>T	(Likely) benign	1 lab	732ed14209
9:125412571 MISSING Ref too long to show for this DEL>T	9	125412571	125472642	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.125412572_125472642del	VUS	1 lab	733059c0c5
16:15818279 MYH11 C>T	16	15818279	15818279	C	T	MYH11	c.4138-13G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15818279C>T	(Likely) benign	1 lab	733341a2bd
2:179481608 TTN AG>A	2	179481608	179481609	AG	A	TTN	c.48007del	NM_001267550.2	NP_001254479.2:p.(Leu16003Ter)	NC_000002.11:g.179481609del	(Likely) pathogenic	1 lab	733495b997
8:19423442 CSGALNACT1 Ref too long to show for this DEL>A	8	19423442	19520607	Ref too long to show for this DEL	A	CSGALNACT1	c.-391-61228_-297+35839del	NM_001354483.2	NP_001341412.1:p.?	NC_000008.10:g.19423446_19520607del	VUS	1 lab	73355b49f3
2:21265518 APOB A>T	2	21265518	21265518	A	T	APOB	c.122-170T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265518A>T	(Likely) benign	1 lab	73396dd2bb
4:88537438 DSPP T>C	4	88537438	88537438	T	C	DSPP	c.3624T>C	NM_014208.3	NP_055023.2:p.(Ser1208=)	NC_000004.11:g.88537438T>C	(Likely) benign	1 lab	73399bbb68
9:137642661 COL5A1 C>T	9	137642661	137642661	C	T	COL5A1	c.1595C>T	NM_000093.5	NP_000084.3:p.(Ala532Val)	NC_000009.11:g.137642661C>T	VUS	1 lab	733c3edae6
2:96962702 SNRNP200 G>A	2	96962702	96962702	G	A	SNRNP200	c.1484C>T	NM_014014.5	NP_054733.2:p.(Thr495Met)	NC_000002.11:g.96962702G>A	(Likely) benign	1 lab	733e86aff1
7:55273130 EGFR C>T	7	55273130	55273130	C	T	EGFR	c.3453C>T	NM_005228.5	NP_005219.2:p.(Phe1151=)	NC_000007.13:g.55273130C>T	(Likely) benign	1 lab	73427ee9b1
X:46713414 RP2 T>C	X	46713414	46713414	T	C	RP2	c.606T>C	NM_006915.3	NP_008846.2:p.(Pro202=)	NC_000023.10:g.46713414T>C	(Likely) benign	1 lab	7344a88aef
12:127351292 MISSING Ref too long to show for this DEL>T	12	127351292	131247754	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.127351294_131247754del	VUS	1 lab	7345e72667
15:48722933 FBN1 A>G	15	48722933	48722933	A	G	FBN1	c.6806T>C	NM_000138.5	NP_000129.3:p.(Ile2269Thr)	NC_000015.9:g.48722933A>G	(Likely) pathogenic	1 lab	73b6579101
7:62030663 MISSING Ref too long to show for this DEL>A	7	62030663	63698471	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.62030665_63698471del	VUS	1 lab	734864af86
12:124252161 DNAH10 C>T	12	124252161	124252161	C	T	DNAH10	c.40C>T	NM_207437.3	NP_997320.2:p.(Pro14Ser)	NC_000012.11:g.124252161C>T	(Likely) benign	1 lab	734b2e1939
1:78408271 NEXN C>T	1	78408271	78408271	C	T	NEXN	c.1785C>T	NM_144573.4	NP_653174.3:p.(Asp595=)	NC_000001.10:g.78408271C>T	(Likely) benign	1 lab	734c0ec907
2:179594238 TTN G>A	2	179594238	179594238	G	A	TTN	c.18645C>T	NM_001267550.2	NP_001254479.2:p.(Asp6215=)	NC_000002.11:g.179594238G>A	(Likely) benign	1 lab	734c6e32b4
11:2790114 KCNQ1 C>T	11	2790114	2790114	C	T	KCNQ1	c.1555C>T	NM_000218.3	NP_000209.2:p.(Arg519Cys)	NC_000011.9:g.2790114C>T	VUS	1 lab	734d71068c
2:179470376 TTN G>A	2	179470376	179470376	G	A	TTN	c.53646C>T	NM_001267550.2	NP_001254479.2:p.(Asp17882=)	NC_000002.11:g.179470376G>A	(Likely) benign	1 lab	734fc203ac
5:131953999 RAD50 C>T	5	131953999	131953999	C	T	RAD50	c.3389+13C>T	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131953999C>T	(Likely) benign	1 lab	7352b239c4
2:21246521 APOB A>G	2	21246521	21246521	A	G	APOB	c.2480T>C	NM_000384.3	NP_000375.3:p.(Leu827Pro)	NC_000002.11:g.21246521A>G	VUS	1 lab	7356434ad0
4:6303631 WFS1 C>T	4	6303631	6303631	C	T	WFS1	c.2109C>T	NM_006005.3	NP_005996.2:p.(Arg703=)	NC_000004.11:g.6303631C>T	(Likely) benign	1 lab	7356e502de
5:180052831 FLT4 TGGCTGTGCAGGGGACCTGA>T	5	180052831	180052855	TGGCTGTGCAGGGGACCTGA	T	FLT4	c.1421+19_1421+37del	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180052837_180052855del	(Likely) benign	1 lab	7357c1f260
12:48369728 COL2A1 AG>A	12	48369728	48369730	AG	A	COL2A1	c.3597+17del	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48369730del	(Likely) benign	1 lab	7357cf3453
17:66547249 PRKAR1A G>A	17	66547249	66547249	G	A	PRKAR1A	c.998G>A	NM_001276290.1	NP_001263219.1:p.(Ser333Asn)	NC_000017.10:g.66547249G>A	(Likely) benign	1 lab	735bb47a00
4:83348652 HNRNPDL T>C	4	83348652	83348652	T	C	HNRNPDL	c.840A>G	NM_031372.4	NP_112740.1:p.(Thr280=)	NC_000004.11:g.83348652T>C	(Likely) benign	1 lab	735cbd9f12
19:11221951 LDLR A>G	19	11221951	11221951	A	G	LDLR	c.1061-239A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221951A>G	(Likely) benign	1 lab	736242f976
9:107589243 ABCA1 G>C	9	107589243	107589243	G	C	ABCA1	c.2323C>G	NM_005502.4	NP_005493.2:p.(Leu775Val)	NC_000009.11:g.107589243G>C	VUS	1 lab	736258f9cb
18:34229311 FHOD3 C>T	18	34229311	34229311	C	T	FHOD3	c.1229C>T	NM_001281740.3	NP_001268669.1:p.(Thr410Met)	NC_000018.9:g.34229311C>T	VUS	1 lab	7364fab3b1
1:248308935 OR2M5 G>A	1	248308935	248308935	G	A	OR2M5	c.486G>A	NM_001004690.1	NP_001004690.1:p.(Ala162=)	NC_000001.10:g.248308935G>A	(Likely) benign	1 lab	736522c81c
1:33430050 RNF19B C>A	1	33430050	33430050	C	A	RNF19B	c.237G>T	NM_001127361.3	NP_001120833.1:p.(Ala79=)	NC_000001.10:g.33430050C>A	(Likely) benign	1 lab	736c785c5b
22:36613518 MISSING G>Alt too long to show for this DUP	22	36613518	36712586	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.36613520_36712586dup	VUS	1 lab	736ec6b231
2:189871683 COL3A1 T>C	2	189871683	189871683	T	C	COL3A1	c.3222T>C	NM_000090.4	NP_000081.2:p.(Gly1074=)	NC_000002.11:g.189871683T>C	(Likely) benign	1 lab	7370e0af3a
X:32509465 DMD T>C	X	32509465	32509465	T	C	DMD	c.2182A>G	NM_004010.3	NP_004001.1:p.(Asn728Asp)	NC_000023.10:g.32509465T>C	VUS	1 lab	737110d789
15:48802322 FBN1 G>A	15	48802322	48802322	G	A	FBN1	c.1633C>T	NM_000138.5	NP_000129.3:p.(Arg545Cys)	NC_000015.9:g.48802322G>A	(Likely) pathogenic	1 lab	7373dd1a08
7:21750214 DNAH11 C>T	7	21750214	21750214	C	T	DNAH11	c.6727C>T	NM_001277115.2	NP_001264044.1:p.(Arg2243Ter)	NC_000007.13:g.21750214C>T	(Likely) pathogenic	1 lab	73756a1981
19:47259535 FKRP A>G	19	47259535	47259535	A	G	FKRP	c.828A>G	NM_001039885.3	NP_001034974.1:p.(Leu276=)	NC_000019.9:g.47259535A>G	(Likely) benign	1 lab	7375d29bfa
6:75798852 COL12A1 A>G	6	75798852	75798852	A	G	COL12A1	c.8980T>C	NM_004370.6	NP_004361.3:p.(Ser2994Pro)	NC_000006.11:g.75798852A>G	(Likely) benign	1 lab	73b6bc7d20
X:145733929 MISSING Ref too long to show for this DEL>G	X	145733929	145910760	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.145733930_145910760del	VUS	1 lab	737907764d
16:58001018 CNGB1 G>A	16	58001018	58001018	G	A	CNGB1	c.159+14C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.58001018G>A	(Likely) benign	1 lab	737931d96b
1:236920866 ACTN2 A>G	1	236920866	236920866	A	G	ACTN2	c.1611A>G	NM_001278344.2	NP_001265273.1:p.(Arg537=)	NC_000001.10:g.236920866A>G	(Likely) benign	1 lab	7379d5ffa7
X:39913655 BCOR C>T	X	39913655	39913655	C	T	BCOR	c.4742-69G>A	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39913655C>T	(Likely) benign	1 lab	737b94298f
6:112575294 LAMA4 G>A	6	112575294	112575294	G	A	LAMA4	c.59C>T	NM_001105206.3	NP_001098676.2:p.(Ala20Val)	NC_000006.11:g.112575294G>A	VUS	1 lab	7380278c31
5:176638491 NSD1 C>T	5	176638491	176638491	C	T	NSD1	c.3091C>T	NM_022455.5	NP_071900.2:p.(Arg1031Ter)	NC_000005.9:g.176638491C>T	(Likely) pathogenic	1 lab	7383e83a73
7:26236286 HNRNPA2B1 G>A	7	26236286	26236286	G	A	HNRNPA2B1	c.512-8C>T	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26236286G>A	(Likely) benign	1 lab	73873a797a
5:89981705 ADGRV1 G>A	5	89981705	89981705	G	A	ADGRV1	c.6383G>A	NM_032119.4	NP_115495.3:p.(Arg2128Gln)	NC_000005.9:g.89981705G>A	(Likely) benign	1 lab	7389e1dc1f
6:30954380 MUC21 C>CTGCCACCAACTCTGAGTCTAGCACACT	6	30954380	30954381	C	CTGCCACCAACTCTGAGTCTAGCACACT	MUC21	c.428_429insTGCCACCAACTCTGAGTCTAGCACACT	NM_001010909.5	NP_001010909.2:p.(Thr143_Ser144insAlaThrAsnSerGluSerSerThrLeu)	NC_000006.11:g.30954380_30954381insTGCCACCAACTCTGAGTCTAGCACACT	(Likely) benign	1 lab	7392abf87c
Y:59002343 MISSING Ref too long to show for this DEL>A	Y	59002343	59335913	Ref too long to show for this DEL	A	MISSING				NC_000024.9:g.59002344_59335913del	(Likely) pathogenic	1 lab	7393ef506b
3:12571420 TSEN2 G>GT	3	12571420	12571433	G	GT	TSEN2	c.1248+61dup	NM_025265.4	NP_079541.1:p.?	NC_000003.11:g.12571433dup	(Likely) benign	1 lab	73973dc8d2
X:149807437 MTM1 G>A	X	149807437	149807437	G	A	MTM1	c.466G>A	NM_000252.3	NP_000243.1:p.(Glu156Lys)	NC_000023.10:g.149807437G>A	VUS	1 lab	73b827dbcb
17:16181619 PIGL Ref too long to show for this DEL>T	17	16181619	16203524	Ref too long to show for this DEL	T	PIGL	c.336-21578_426+232del	NM_004278.4	NP_004269.1:p.?	NC_000017.10:g.16181624_16203524del	VUS	1 lab	7398dfe7cd
10:30638028 MTPAP G>A	10	30638028	30638028	G	A	MTPAP	c.157+20C>T	NM_018109.4	NP_060579.3:p.?	NC_000010.10:g.30638028G>A	(Likely) benign	1 lab	739bbdaad1
13:110436646 IRS2 C>T	13	110436646	110436646	C	T	IRS2	c.1755G>A	NM_003749.3	NP_003740.2:p.(Arg585=)	NC_000013.10:g.110436646C>T	(Likely) benign	1 lab	739dae6ac0
2:21255323 APOB G>A	2	21255323	21255323	G	A	APOB	c.1255C>T	NM_000384.3	NP_000375.3:p.(Pro419Ser)	NC_000002.11:g.21255323G>A	VUS	1 lab	73a36fcb8d
X:8521970 ANOS1 ATAAG>A	X	8521970	8521981	ATAAG	A	ANOS1	c.1354+19_1354+22del	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8521978_8521981del	(Likely) benign	1 lab	73a6c58d6d
5:177897907 MISSING G>Alt too long to show for this DUP	5	177897907	178231985	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.177897909_178231985dup	VUS	1 lab	73ac6cb4d3
19:11218136 LDLR T>G	19	11218136	11218136	T	G	LDLR	c.886T>G	NM_000527.5	NP_000518.1:p.(Cys296Gly)	NC_000019.9:g.11218136T>G	(Likely) pathogenic	1 lab	73ad8a5f58
1:237632393 RYR2 G>A	1	237632393	237632393	G	A	RYR2	c.1614G>A	NM_001035.3	NP_001026.2:p.(Ala538=)	NC_000001.10:g.237632393G>A	VUS	1 lab	73b36010a2
17:1674434 SERPINF1 C>G	17	1674434	1674434	C	G	SERPINF1	c.395C>G	NM_002615.7	NP_002606.3:p.(Pro132Arg)	NC_000017.10:g.1674434C>G	(Likely) benign	1 lab	73b645dd8f
7:158200725 MISSING T>Alt too long to show for this DUP	7	158200725	158627971	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.158200726_158627971dup	VUS	1 lab	a2e75f5864
12:104131410 STAB2 A>T	12	104131410	104131410	A	T	STAB2	c.5551-2A>T	NM_017564.10	NP_060034.9:p.?	NC_000012.11:g.104131410A>T	(Likely) benign	1 lab	73bc6aee39
11:88924445 TYR C>A	11	88924445	88924445	C	A	TYR	c.895C>A	NM_000372.5	NP_000363.1:p.(Arg299Ser)	NC_000011.9:g.88924445C>A	(Likely) pathogenic	1 lab	73bcfc85d1
22:50885565 SBF1 G>A	22	50885565	50885565	G	A	SBF1	c.*6C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50885565G>A	(Likely) benign	1 lab	73bdf6c9b1
15:34553130 SLC12A6 A>G	15	34553130	34553130	A	G	SLC12A6	c.381T>C	NM_001042496.2	NP_001035961.1:p.(Phe127=)	NC_000015.9:g.34553130A>G	(Likely) benign	1 lab	73c1299785
5:137507104 BRD8 TAAAA>T	5	137507104	137507120	TAAAA	T	BRD8	c.187-9_187-6del	NM_139199.2	NP_631938.2:p.?	NC_000005.9:g.137507117_137507120del	(Likely) benign	1 lab	73c31ca15e
1:22030891 USP48 C>CA	1	22030891	22030901	C	CA	USP48	c.2385-7dup	NM_032236.8	NP_115612.4:p.?	NC_000001.10:g.22030901dup	(Likely) benign	1 lab	73c3c59955
19:11218173 LDLR A>G	19	11218173	11218173	A	G	LDLR	c.923A>G	NM_000527.5	NP_000518.1:p.(Glu308Gly)	NC_000019.9:g.11218173A>G	(Likely) pathogenic	1 lab	73c460b9ec
17:40695812 NAGLU C>T	17	40695812	40695812	C	T	NAGLU	c.1788C>T	NM_000263.4	NP_000254.2:p.(Gly596=)	NC_000017.10:g.40695812C>T	(Likely) benign	1 lab	73c4aa33f3
X:33229437 DMD A>T	X	33229437	33229437	A	T	DMD	c.-8T>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.33229437A>T	(Likely) benign	1 lab	73c6d7844e
12:110221534 TRPV4 C>T	12	110221534	110221534	C	T	TRPV4	c.2508G>A	NM_021625.5	NP_067638.3:p.(Ser836=)	NC_000012.11:g.110221534C>T	(Likely) benign	1 lab	73c80e4968
7:50468083 IKZF1 G>A	7	50468083	50468083	G	A	IKZF1	c.1192G>A	NM_001220765.3	NP_001207694.1:p.(Ala398Thr)	NC_000007.13:g.50468083G>A	VUS	1 lab	73c8909eda
18:29100905 DSG2 G>A	18	29100905	29100905	G	A	DSG2	c.356G>A	NM_001943.5	NP_001934.2:p.(Arg119Gln)	NC_000018.9:g.29100905G>A	VUS	1 lab	73c8cd3c5d
8:22034486 BMP1 C>T	8	22034486	22034486	C	T	BMP1	c.564C>T	NM_006129.5	NP_006120.1:p.(Tyr188=)	NC_000008.10:g.22034486C>T	(Likely) benign	1 lab	73c94ff34f
12:125294709 SCARB1 C>G	12	125294709	125294709	C	G	SCARB1	c.842+11G>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125294709C>G	(Likely) benign	1 lab	73c99c83be
8:144999867 PLEC G>A	8	144999867	144999867	G	A	PLEC	c.4641C>T	NM_201380.4	NP_958782.1:p.(Asp1547=)	NC_000008.10:g.144999867G>A	(Likely) benign	1 lab	73cd19bf34
15:58724285 LIPC C>G	15	58724285	58724285	C	G	LIPC	c.54C>G	NM_000236.3	NP_000227.2:p.(Ile18Met)	NC_000015.9:g.58724285C>G	VUS	1 lab	73cd794009
19:11223983 LDLR C>T	19	11223983	11223983	C	T	LDLR	c.1216C>T	NM_000527.5	NP_000518.1:p.(Arg406Trp)	NC_000019.9:g.11223983C>T	(Likely) pathogenic	1 lab	73cdba10c2
1:94485275 ABCA4 T>A	1	94485275	94485275	T	A	ABCA4	c.5059A>T	NM_000350.3	NP_000341.2:p.(Ile1687Phe)	NC_000001.10:g.94485275T>A	VUS	1 lab	73d0f25400
11:118963927 HMBS C>T	11	118963927	118963927	C	T	HMBS	c.1020C>T	NM_000190.4	NP_000181.2:p.(Asn340=)	NC_000011.9:g.118963927C>T	(Likely) benign	1 lab	73d22bde23
11:47358955 MYBPC3 GGGCTGGGA>G	11	47358955	47358966	GGGCTGGGA	G	MYBPC3	c.2581_2588del	NM_000256.3	NP_000247.2:p.(Ser861LeufsTer20)	NC_000011.9:g.47358959_47358966del	(Likely) pathogenic	1 lab	73d268f2bd
8:1873461 ARHGEF10 A>G	8	1873461	1873461	A	G	ARHGEF10	c.2573A>G	NM_001308153.2	NP_001295082.1:p.(His858Arg)	NC_000008.10:g.1873461A>G	(Likely) benign	1 lab	73d5a43129
18:58038948 MC4R T>C	18	58038948	58038948	T	C	MC4R	c.635A>G	NM_005912.3	NP_005903.2:p.(Tyr212Cys)	NC_000018.9:g.58038948T>C	VUS	1 lab	73d6041d9a
5:110075059 SLC25A46 C>T	5	110075059	110075059	C	T	SLC25A46	c.239C>T	NM_138773.4	NP_620128.1:p.(Pro80Leu)	NC_000005.9:g.110075059C>T	VUS	1 lab	73d88d4c91
16:88783100 PIEZO1 T>C	16	88783100	88783100	T	C	PIEZO1	c.6793A>G	NM_001142864.4	NP_001136336.2:p.(Ile2265Val)	NC_000016.9:g.88783100T>C	(Likely) benign	1 lab	73de33090f
2:179646994 TTN G>A	2	179646994	179646994	G	A	TTN	c.3325C>T	NM_001267550.2	NP_001254479.2:p.(Pro1109Ser)	NC_000002.11:g.179646994G>A	VUS	1 lab	73e1c5fa05
2:179429134 TTN T>C	2	179429134	179429134	T	C	TTN	c.81725A>G	NM_001267550.2	NP_001254479.2:p.(Glu27242Gly)	NC_000002.11:g.179429134T>C	VUS	1 lab	73e5468169
11:47355440 MYBPC3 C>A	11	47355440	47355440	C	A	MYBPC3	c.2994+33G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355440C>A	(Likely) benign	1 lab	73e63a2cb2
3:38651224 SCN5A C>T	3	38651224	38651224	C	T	SCN5A	c.934+1G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38651224C>T	(Likely) pathogenic	1 lab	73e6c14ceb
20:1961118 PDYN G>A	20	1961118	1961118	G	A	PDYN	c.616C>T	NM_024411.5	NP_077722.1:p.(Arg206Cys)	NC_000020.10:g.1961118G>A	VUS	1 lab	73ed352086
9:107556356 ABCA1 A>C	9	107556356	107556356	A	C	ABCA1	c.5506+312T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556356A>C	(Likely) benign	1 lab	73ed9e5539
15:85360578 ALPK3 G>T	15	85360578	85360578	G	T	ALPK3				NC_000015.9:g.85360578G>T	(Likely) benign	1 lab	73ee8b31d3
10:18439784 CACNB2 CTTTTTTTTTTT>C	10	18439784	18439809	CTTTTTTTTTTT	C	CACNB2	c.37-13_37-3del	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439799_18439809del	(Likely) benign	1 lab	73ef3145ed
1:161276621 MPZ C>T	1	161276621	161276621	C	T	MPZ	c.325G>A	NM_000530.8	NP_000521.2:p.(Asp109Asn)	NC_000001.10:g.161276621C>T	(Likely) pathogenic	1 lab	73f099fba2
9:33656481 MISSING C>Alt too long to show for this DUP	9	33656481	33894033	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.33656482_33894033dup	VUS	1 lab	73f0ec31dc
6:112457459 LAMA4 G>C	6	112457459	112457459	G	C	LAMA4	c.3283-3C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112457459G>C	VUS	1 lab	73f1e2d129
2:179559348 TTN C>A	2	179559348	179559348	C	A	TTN	c.31404G>T	NM_001267550.2	NP_001254479.2:p.(Gln10468His)	NC_000002.11:g.179559348C>A	VUS	1 lab	73f650dea2
1:55509213 PCSK9 G>C	1	55509213	55509213	G	C	PCSK9	c.208-303G>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509213G>C	(Likely) benign	1 lab	73f6a13e36
X:70444526 GJB1 C>T	X	70444526	70444526	C	T	GJB1	c.*117C>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70444526C>T	(Likely) benign	1 lab	73f7e2f49d
X:70443684 GJB1 G>A	X	70443684	70443684	G	A	GJB1	c.127G>A	NM_000166.6	NP_000157.1:p.(Val43Met)	NC_000023.10:g.70443684G>A	(Likely) pathogenic	1 lab	73f80424a7
2:227661826 IRS1 G>A	2	227661826	227661826	G	A	IRS1	c.1629C>T	NM_005544.3	NP_005535.1:p.(Ser543=)	NC_000002.11:g.227661826G>A	(Likely) benign	1 lab	73f9929e5c
1:248059575 OR2W3 G>T	1	248059575	248059575	G	T	OR2W3	c.687G>T	NM_001001957.2	NP_001001957.2:p.(Arg229=)	NC_000001.10:g.248059575G>T	(Likely) benign	1 lab	73fa68ab97
2:179480222 TTN T>C	2	179480222	179480222	T	C	TTN	c.48461-11A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480222T>C	(Likely) benign	1 lab	73fc59fea2
19:50713713 MYH14 C>A	19	50713713	50713713	C	A	MYH14	c.91C>A	NM_001145809.2	NP_001139281.1:p.(Pro31Thr)	NC_000019.9:g.50713713C>A	(Likely) benign	1 lab	73fcabd24c
3:178917478 PIK3CA G>A	3	178917478	178917478	G	A	PIK3CA	c.353G>A	NM_006218.4	NP_006209.2:p.(Gly118Asp)	NC_000003.11:g.178917478G>A	(Likely) pathogenic	1 lab	74029c4529
19:50792684 MYH14 C>T	19	50792684	50792684	C	T	MYH14	c.4753-9C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50792684C>T	(Likely) benign	1 lab	7403889e9a
14:23886730 MYH7 C>T	14	23886730	23886730	C	T	MYH7	c.4335G>A	NM_000257.4	NP_000248.2:p.(Lys1445=)	NC_000014.8:g.23886730C>T	(Likely) benign	1 lab	74062f2e46
9:34635749 SIGMAR1 G>A	9	34635749	34635749	G	A	SIGMAR1	c.552C>T	NM_005866.4	NP_005857.1:p.(Phe184=)	NC_000009.11:g.34635749G>A	(Likely) benign	1 lab	74063d64a5
16:1005251 LMF1 TAC>T	16	1005251	1005264	TAC	T	LMF1	c.-361-587_-361-586del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005263_1005264del	(Likely) benign	1 lab	74088e64f6
1:103379907 COL11A1 C>T	1	103379907	103379907	C	T	COL11A1	c.4014+1G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103379907C>T	(Likely) pathogenic	1 lab	7409cfee7c
5:178551544 ADAMTS2 T>C	5	178551544	178551544	T	C	ADAMTS2	c.2958+430A>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178551544T>C	(Likely) benign	1 lab	740c08dda2
15:73660006 HCN4 C>T	15	73660006	73660006	C	T	HCN4	c.606G>A	NM_005477.3	NP_005468.1:p.(Pro202=)	NC_000015.9:g.73660006C>T	(Likely) benign	1 lab	740c4646a2
2:179416794 TTN C>T	2	179416794	179416794	C	T	TTN	c.90833G>A	NM_001267550.2	NP_001254479.2:p.(Ser30278Asn)	NC_000002.11:g.179416794C>T	VUS	1 lab	741462b678
8:134276828 NDRG1 C>T	8	134276828	134276828	C	T	NDRG1	c.167G>A	NM_001135242.2	NP_001128714.1:p.(Arg56Gln)	NC_000008.10:g.134276828C>T	VUS	1 lab	74154ea4c2
1:148582481 NBPF15 A>G	1	148582481	148582481	A	G	NBPF15	c.715A>G	NM_001170755.3	NP_001164226.1:p.(Thr239Ala)	NC_000001.10:g.148582481A>G	(Likely) benign	1 lab	74183d9a19
16:904706 LMF1 C>T	16	904706	904706	C	T	LMF1	c.1530G>A	NM_022773.4	NP_073610.2:p.(Arg510=)	NC_000016.9:g.904706C>T	(Likely) benign	1 lab	7418cd4158
12:65639711 LEMD3 G>C	12	65639711	65639711	G	C	LEMD3	c.2564G>C	NM_014319.5	NP_055134.2:p.(Trp855Ser)	NC_000012.11:g.65639711G>C	VUS	1 lab	7419f5e229
6:32010262 TNXB G>C	6	32010262	32010262	G	C	TNXB	c.12174C>G	NM_019105.8	NP_061978.6:p.(Cys4058Trp)	NC_000006.11:g.32010262G>C	(Likely) pathogenic	1 lab	741ada3462
19:39003004 RYR1 C>T	19	39003004	39003004	C	T	RYR1	c.9353C>T	NM_000540.3	NP_000531.2:p.(Ala3118Val)	NC_000019.9:g.39003004C>T	VUS	1 lab	742008cfef
8:8112847 MISSING Ref too long to show for this DEL>A	8	8112847	12039974	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.8112848_12039974del	(Likely) pathogenic	1 lab	7420af686b
2:228860350 SPHKAP G>A	2	228860350	228860350	G	A	SPHKAP	c.4509C>T	NM_001142644.2	NP_001136116.1:p.(Pro1503=)	NC_000002.11:g.228860350G>A	(Likely) benign	1 lab	7421cc18e5
2:179411011 TTN-AS1 T>C	2	179411011	179411011	T	C	TTN-AS1	n.2043+3923T>C	NR_038272.1		NC_000002.11:g.179411011T>C	(Likely) benign	1 lab	74222c29a9
2:179428921 TTN C>T	2	179428921	179428921	C	T	TTN	c.81938G>A	NM_001267550.2	NP_001254479.2:p.(Gly27313Glu)	NC_000002.11:g.179428921C>T	(Likely) benign	1 lab	7428dd530e
22:46860063 CELSR1 C>T	22	46860063	46860063	C	T	CELSR1	c.3724G>A	NM_001378328.1	NP_001365257.1:p.(Val1242Ile)	NC_000022.10:g.46860063C>T	(Likely) benign	1 lab	742c855904
1:11995176 PLOD1 A>G	1	11995176	11995176	A	G	PLOD1	c.76+264A>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.11995176A>G	(Likely) benign	1 lab	74306f3f4a
1:192331744 MISSING A>Alt too long to show for this DUP	1	192331744	192558493	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.192331747_192558493dup	VUS	1 lab	74377ecbf2
2:179445319 TTN G>A	2	179445319	179445319	G	A	TTN	c.66787C>T	NM_001267550.2	NP_001254479.2:p.(Leu22263Phe)	NC_000002.11:g.179445319G>A	VUS	1 lab	743adee451
7:91622372 AKAP9 A>G	7	91622372	91622372	A	G	AKAP9	c.576+3A>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91622372A>G	(Likely) benign	1 lab	743d630331
19:36212148 KMT2B A>C	19	36212148	36212148	A	C	KMT2B	c.1899A>C	NM_014727.3	NP_055542.1:p.(Pro633=)	NC_000019.9:g.36212148A>C	(Likely) benign	1 lab	744619bdf7
9:80851539 CEP78 A>G	9	80851539	80851539	A	G	CEP78	c.253+20A>G	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80851539A>G	(Likely) benign	1 lab	74474cf8f7
7:7515048 MISSING C>Alt too long to show for this DUP	7	7515048	7638376	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.7515050_7638376dup	VUS	1 lab	744858ceba
X:153282942 MISSING G>Alt too long to show for this DUP	X	153282942	153298107	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153282944_153298107dup	VUS	1 lab	744ca030a1
19:48342687 CRX G>A	19	48342687	48342687	G	A	CRX	c.363G>A	NM_000554.6	NP_000545.1:p.(Ala121=)	NC_000019.9:g.48342687G>A	(Likely) benign	1 lab	7453330e68
14:77492303 IRF2BPL G>C	14	77492303	77492303	G	C	IRF2BPL	c.1833C>G	NM_024496.4	NP_078772.1:p.(Thr611=)	NC_000014.8:g.77492303G>C	(Likely) benign	1 lab	7454acb921
18:29101226 DSG2 T>C	18	29101226	29101226	T	C	DSG2	c.523+20T>C	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101226T>C	(Likely) benign	1 lab	7455258ba1
20:54824466 MC3R T>A	20	54824466	54824466	T	A	MC3R	c.567T>A	NM_019888.3	NP_063941.3:p.(Ile189=)	NC_000020.10:g.54824466T>A	(Likely) benign	1 lab	74559386ec
19:50812931 MYH14 C>T	19	50812931	50812931	C	T	MYH14	c.5995C>T	NM_001145809.2	NP_001139281.1:p.(Arg1999Cys)	NC_000019.9:g.50812931C>T	VUS	1 lab	7458155270
19:11446433 RAB3D G>A	19	11446433	11446433	G	A	RAB3D	c.255C>T	NM_004283.4	NP_004274.1:p.(Arg85=)	NC_000019.9:g.11446433G>A	(Likely) benign	1 lab	74582974d3
17:26874439 UNC119 G>A	17	26874439	26874439	G	A	UNC119	c.*203C>T	NM_054035.2	NP_473376.1:p.?	NC_000017.10:g.26874439G>A	(Likely) benign	1 lab	7459441497
1:55518304 PCSK9 C>G	1	55518304	55518304	C	G	PCSK9	c.658-19C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518304C>G	(Likely) benign	1 lab	745d595926
1:225974584 SRP9 G>T	1	225974584	225974584	G	T	SRP9	c.162G>T	NM_001130440.2	NP_001123912.1:p.(Leu54Phe)	NC_000001.10:g.225974584G>T	(Likely) benign	1 lab	74655e8cee
X:128813903 MISSING Ref too long to show for this DEL>T	X	128813903	128960168	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.128813904_128960168del	(Likely) pathogenic	1 lab	7466142a63
6:127489140 RSPO3 T>Alt too long to show for this DUP	6	127489140	127500568	T	Alt too long to show for this DUP	RSPO3	c.634+12558_635-16400dup	NM_032784.5	NP_116173.2:p.?	NC_000006.11:g.127489141_127500568dup	VUS	1 lab	7466c8f689
12:53551437 MISSING A>Alt too long to show for this DUP	12	53551437	53646986	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.53551438_53646986dup	VUS	1 lab	746a491a5a
16:921351 LMF1 C>G	16	921351	921351	C	G	LMF1	c.898-10G>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921351C>G	(Likely) benign	1 lab	746a84836e
11:76875655 MISSING C>Alt too long to show for this DUP	11	76875655	76956528	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.76875656_76956528dup	(Likely) pathogenic	1 lab	7fafc00186
5:95730582 PCSK1 C>T	5	95730582	95730582	C	T	PCSK1	c.1870G>A	NM_000439.5	NP_000430.3:p.(Val624Met)	NC_000005.9:g.95730582C>T	VUS	1 lab	74708703b0
8:144298484 GPIHBP1 G>C	8	144298484	144298484	G	C	GPIHBP1	c.*1092G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298484G>C	(Likely) benign	1 lab	74711b71d6
14:102508439 DYNC1H1 G>T	14	102508439	102508439	G	T	DYNC1H1	c.12192G>T	NM_001376.5	NP_001367.2:p.(Thr4064=)	NC_000014.8:g.102508439G>T	(Likely) benign	1 lab	74780e403a
15:66995628 SMAD6 G>C	15	66995628	66995628	G	C	SMAD6	c.32G>C	NM_005585.5	NP_005576.3:p.(Arg11Pro)	NC_000015.9:g.66995628G>C	(Likely) benign	1 lab	747c246d64
14:60327445 MISSING Ref too long to show for this DEL>C	14	60327445	61505370	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.60327448_61505370del	VUS	1 lab	747f1d9f1c
16:57006147 CETP C>T	16	57006147	57006147	C	T	CETP	c.750+152C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006147C>T	(Likely) benign	1 lab	7481f5c858
15:99500472 IGF1R G>A	15	99500472	99500472	G	A	IGF1R	c.3905G>A	NM_000875.5	NP_000866.1:p.(Ser1302Asn)	NC_000015.9:g.99500472G>A	VUS	1 lab	74822fb756
12:107155183 RFX4 A>G	12	107155183	107155183	A	G	RFX4	c.2144A>G	NM_213594.3	NP_998759.1:p.(His715Arg)	NC_000012.11:g.107155183A>G	VUS	1 lab	7482fd3a8e
18:28659804 DSC2 A>G	18	28659804	28659804	A	G	DSC2	c.1663+9T>C	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28659804A>G	(Likely) benign	1 lab	748586a083
8:59409434 CYP7A1 C>G	8	59409434	59409434	C	G	CYP7A1	c.637G>C	NM_000780.4	NP_000771.2:p.(Asp213His)	NC_000008.10:g.59409434C>G	(Likely) pathogenic	1 lab	74872731d7
2:179415737 TTN C>T	2	179415737	179415737	C	T	TTN	c.91521G>A	NM_001267550.2	NP_001254479.2:p.(Pro30507=)	NC_000002.11:g.179415737C>T	(Likely) benign	1 lab	748ba97049
2:21230635 APOB A>T	2	21230635	21230635	A	T	APOB	c.9105T>A	NM_000384.3	NP_000375.3:p.(Asn3035Lys)	NC_000002.11:g.21230635A>T	VUS	1 lab	748ce21de8
15:23891033 MAGEL2 G>A	15	23891033	23891033	G	A	MAGEL2	c.1857C>T	NM_019066.5	NP_061939.3:p.(Ala619=)	NC_000015.9:g.23891033G>A	(Likely) benign	1 lab	748d83e7bc
3:171395485 PLD1 C>A	3	171395485	171395485	C	A	PLD1	c.1868-1G>T	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171395485C>A	(Likely) pathogenic	1 lab	748e043ea6
16:46746676 MYLK3 T>A	16	46746676	46746676	T	A	MYLK3	c.1998A>T	NM_182493.3	NP_872299.2:p.(Arg666=)	NC_000016.9:g.46746676T>A	(Likely) benign	1 lab	74907aa95d
1:21896886 ALPL G>A	1	21896886	21896886	G	A	ALPL	c.862+19G>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21896886G>A	(Likely) benign	1 lab	74929aa4a5
2:21260010 APOB G>A	2	21260010	21260010	G	A	APOB	c.655C>T	NM_000384.3	NP_000375.3:p.(Arg219Cys)	NC_000002.11:g.21260010G>A	VUS	1 lab	7494f685cb
8:144298868 GPIHBP1 CCTT>C	8	144298868	144298873	CCTT	C	GPIHBP1	c.376-14_376-12del	NM_001301772.2	NP_001288701.1:p.?	NC_000008.10:g.144298871_144298873del	(Likely) benign	1 lab	749cbe77eb
16:1634198 IFT140 C>T	16	1634198	1634198	C	T	IFT140	c.1359+20G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1634198C>T	(Likely) benign	1 lab	749d7c47cd
20:61461898 COL9A3 C>A	20	61461898	61461898	C	A	COL9A3	c.1245C>A	NM_001853.4	NP_001844.3:p.(Gly415=)	NC_000020.10:g.61461898C>A	(Likely) benign	1 lab	74a13739b1
2:25047425 ADCY3 G>A	2	25047425	25047425	G	A	ADCY3	c.2644-20C>T	NM_001377128.1	NP_001364057.1:p.?	NC_000002.11:g.25047425G>A	(Likely) benign	1 lab	74a33139b4
X:49082454 CACNA1F GC>G	X	49082454	49082457	GC	G	CACNA1F	c.1600del	NM_005183.4	NP_005174.2:p.(Ala534LeufsTer11)	NC_000023.10:g.49082457del	(Likely) pathogenic	1 lab	74ad408101
13:77575068 CLN5 T>C	13	77575068	77575068	T	C	CLN5	c.1041T>C	NM_006493.4	NP_006484.2:p.(Pro347=)	NC_000013.10:g.77575068T>C	(Likely) benign	1 lab	74af30c20f
14:35579021 MISSING T>Alt too long to show for this DUP	14	35579021	35634053	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.35579022_35634053dup	VUS	1 lab	74b0c0fb24
4:100495817 MTTP T>C	4	100495817	100495817	T	C	MTTP	c.-101-149T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100495817T>C	(Likely) benign	1 lab	74b105a599
6:7572336 DSP G>A	6	7572336	7572336	G	A	DSP	c.2130+35G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572336G>A	(Likely) benign	1 lab	750ccb2d6c
11:47354471 MYBPC3 C>G	11	47354471	47354471	C	G	MYBPC3	c.3384G>C	NM_000256.3	NP_000247.2:p.(Glu1128Asp)	NC_000011.9:g.47354471C>G	VUS	1 lab	74b22a40d1
9:107547767 ABCA1 A>C	9	107547767	107547767	A	C	ABCA1	c.6555T>G	NM_005502.4	NP_005493.2:p.(Ser2185=)	NC_000009.11:g.107547767A>C	(Likely) benign	1 lab	74b64724bd
12:58220844 CTDSP2 C>T	12	58220844	58220844	C	T	CTDSP2	c.289G>A	NM_005730.4	NP_005721.3:p.(Glu97Lys)	NC_000012.11:g.58220844C>T	(Likely) benign	1 lab	74b9279031
14:81362139 CEP128 G>GAAA	14	81362139	81362142	G	GAAA	CEP128	c.573-6_573-5insTTT	NM_152446.5	NP_689659.2:p.?	NC_000014.8:g.81362141_81362142insAAA	(Likely) benign	1 lab	74ba03f86d
16:58614594 CNOT1 AC>A	16	58614594	58614595	AC	A	CNOT1	c.1285del	NM_016284.5	NP_057368.3:p.(Val429LeufsTer6)	NC_000016.9:g.58614595del	VUS	1 lab	74ba18809f
19:39076780 RYR1 C>T	19	39076780	39076780	C	T	RYR1	c.14918C>T	NM_000540.3	NP_000531.2:p.(Pro4973Leu)	NC_000019.9:g.39076780C>T	(Likely) pathogenic	1 lab	74bb71ce1e
X:30869943 MISSING G>Alt too long to show for this DUP	X	30869943	31102257	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.30869947_31102257dup	VUS	1 lab	74bbd9c1eb
7:105122891 PUS7 TA>T	7	105122891	105122907	TA	T	PUS7	c.921-5del	NM_019042.5	NP_061915.2:p.?	NC_000007.13:g.105122907del	(Likely) benign	1 lab	74bdf855e9
7:107323774 SLC26A4 T>G	7	107323774	107323774	T	G	SLC26A4	c.893T>G	NM_000441.2	NP_000432.1:p.(Val298Gly)	NC_000007.13:g.107323774T>G	VUS	1 lab	74bec7e3dd
2:179478860 TTN T>C	2	179478860	179478860	T	C	TTN	c.49264A>G	NM_001267550.2	NP_001254479.2:p.(Ile16422Val)	NC_000002.11:g.179478860T>C	VUS	1 lab	74c1f35629
2:189867359 COL3A1 G>A	2	189867359	189867359	G	A	COL3A1	c.2445+282G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867359G>A	(Likely) benign	1 lab	74c3796135
12:49374962 WNT1 T>G	12	49374962	49374962	T	G	WNT1	c.652T>G	NM_005430.4	NP_005421.1:p.(Cys218Gly)	NC_000012.11:g.49374962T>G	(Likely) pathogenic	1 lab	74c550ddee
9:139326917 INPP5E G>A	9	139326917	139326917	G	A	INPP5E	c.1387+14C>T	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139326917G>A	(Likely) benign	1 lab	7511b3343f
2:44049924 ABCG5 A>G	2	44049924	44049924	A	G	ABCG5	c.1463+12T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049924A>G	(Likely) benign	1 lab	74c68bde3b
22:39942498 MISSING Ref too long to show for this DEL>G	22	39942498	39980379	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.39942500_39980379del	VUS	1 lab	74ca7b898c
6:7580684 DSP G>A	6	7580684	7580684	G	A	DSP	c.4261G>A	NM_004415.4	NP_004406.2:p.(Glu1421Lys)	NC_000006.11:g.7580684G>A	VUS	1 lab	74cc84315d
8:62416074 ASPH G>A	8	62416074	62416074	G	A	ASPH	c.2127-6C>T	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62416074G>A	(Likely) benign	1 lab	74cd1654a5
19:11211025 LDLR A>T	19	11211025	11211025	A	T	LDLR	c.190+4A>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211025A>T	(Likely) pathogenic	1 lab	74cdd157c9
1:161179015 NDUFS2 G>A	1	161179015	161179015	G	A	NDUFS2	c.426G>A	NM_001166159.2	NP_001159631.1:p.(Val142=)	NC_000001.10:g.161179015G>A	(Likely) benign	1 lab	74cea86e40
2:179606393 TTN T>C	2	179606393	179606393	T	C	TTN	c.11567A>G	NM_001267550.2	NP_001254479.2:p.(Asn3856Ser)	NC_000002.11:g.179606393T>C	VUS	1 lab	74d2c8f546
X:70444097 GJB1 C>G	X	70444097	70444097	C	G	GJB1	c.540C>G	NM_000166.6	NP_000157.1:p.(Phe180Leu)	NC_000023.10:g.70444097C>G	(Likely) pathogenic	1 lab	74d3869736
2:179583905 TTN A>G	2	179583905	179583905	A	G	TTN	c.24212T>C	NM_001267550.2	NP_001254479.2:p.(Val8071Ala)	NC_000002.11:g.179583905A>G	VUS	1 lab	74d4f4ba6c
1:2235381 SKI C>G	1	2235381	2235381	C	G	SKI	c.1314C>G	NM_003036.4	NP_003027.1:p.(Ala438=)	NC_000001.10:g.2235381C>G	(Likely) benign	1 lab	74d5e09df6
1:199943238 MISSING Ref too long to show for this DEL>G	1	199943238	200950550	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.199943239_200950550del	VUS	1 lab	74d8c45ed4
16:2125819 TSC2 C>T	16	2125819	2125819	C	T	TSC2	c.2565C>T	NM_000548.5	NP_000539.2:p.(His855=)	NC_000016.9:g.2125819C>T	(Likely) benign	1 lab	74de70779a
4:100532284 MTTP T>C	4	100532284	100532284	T	C	MTTP	c.1770-16T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532284T>C	(Likely) benign	1 lab	74e15cb197
16:88498284 ZNF469 A>G	16	88498284	88498284	A	G	ZNF469	c.4406A>G	NM_001367624.2	NP_001354553.1:p.(Tyr1469Cys)	NC_000016.9:g.88498284A>G	(Likely) benign	1 lab	74e2474e45
16:15053817 MISSING Ref too long to show for this DEL>A	16	15053817	15416637	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.15053819_15416637del	VUS	1 lab	74e536dd47
1:161276653 MPZ C>G	1	161276653	161276653	C	G	MPZ	c.293G>C	NM_000530.8	NP_000521.2:p.(Arg98Pro)	NC_000001.10:g.161276653C>G	(Likely) pathogenic	1 lab	74e5e15d4a
11:17545978 USH1C G>A	11	17545978	17545978	G	A	USH1C	c.759+20C>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17545978G>A	(Likely) benign	1 lab	74e6e1a203
19:49714043 TRPM4 A>C	19	49714043	49714043	A	C	TRPM4	c.3405A>C	NM_017636.4	NP_060106.2:p.(Ala1135=)	NC_000019.9:g.49714043A>C	(Likely) benign	1 lab	74e730af5e
1:55525218 PCSK9 C>T	1	55525218	55525218	C	T	PCSK9	c.1563C>T	NM_174936.4	NP_777596.2:p.(Tyr521=)	NC_000001.10:g.55525218C>T	(Likely) benign	1 lab	74e852253a
20:33600868 TRPC4AP T>C	20	33600868	33600868	T	C	TRPC4AP	c.1352A>G	NM_015638.3	NP_056453.1:p.(Asp451Gly)	NC_000020.10:g.33600868T>C	VUS	1 lab	74ef73a8c1
X:152770638 BGN GTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGA>G	X	152770638	152770699	GTGGGGGTGGGGCCCCTAGGTCTCAAGTTCATGCTGGTGA	G	BGN	c.239-35_242del	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770661_152770699del	VUS	1 lab	74f78e7ccb
5:138913296 MISSING Ref too long to show for this DEL>T	5	138913296	138944682	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.138913299_138944682del	VUS	1 lab	74f7cdbd25
2:44058974 ABCG5 G>C	2	44058974	44058974	G	C	ABCG5	c.435C>G	NM_022436.3	NP_071881.1:p.(Arg145=)	NC_000002.11:g.44058974G>C	(Likely) benign	1 lab	74f8c0609f
8:144295189 GPIHBP1 G>A	8	144295189	144295189	G	A	GPIHBP1	c.47G>A	NM_178172.6	NP_835466.2:p.(Arg16Gln)	NC_000008.10:g.144295189G>A	VUS	1 lab	74fad8fdb3
17:8193203 SLC25A35 G>A	17	8193203	8193203	G	A	SLC25A35	c.829C>T	NM_201520.3	NP_958928.1:p.(Leu277=)	NC_000017.10:g.8193203G>A	(Likely) benign	1 lab	74fd21000f
16:1652388 IFT140 G>A	16	1652388	1652388	G	A	IFT140	c.352C>T	NM_014714.4	NP_055529.2:p.(Leu118=)	NC_000016.9:g.1652388G>A	(Likely) benign	1 lab	74fd51ea40
1:9391347 MISSING C>Alt too long to show for this DUP	1	9391347	9499246	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.9391349_9499246dup	VUS	1 lab	74ffdb50f3
1:228345921 GJC2 G>A	1	228345921	228345921	G	A	GJC2	c.462G>A	NM_020435.4	NP_065168.2:p.(Glu154=)	NC_000001.10:g.228345921G>A	(Likely) benign	1 lab	74fff56d6e
6:72596906 RIMS1 C>T	6	72596906	72596906	C	T	RIMS1	c.164+16C>T	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72596906C>T	(Likely) benign	1 lab	750423ccbe
12:124377992 DNAH10 G>A	12	124377992	124377992	G	A	DNAH10	c.8845+9G>A	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124377992G>A	(Likely) benign	1 lab	7504834d05
7:100411629 EPHB4 G>A	7	100411629	100411629	G	A	EPHB4	c.1603C>T	NM_004444.5	NP_004435.3:p.(Arg535Trp)	NC_000007.13:g.100411629G>A	VUS	1 lab	7504a83837
8:100711871 VPS13B A>G	8	100711871	100711871	A	G	VPS13B	c.6240A>G	NM_017890.5	NP_060360.3:p.(Glu2080=)	NC_000008.10:g.100711871A>G	(Likely) benign	1 lab	75058aae0a
15:85360302 ALPK3 G>T	15	85360302	85360302	G	T	ALPK3				NC_000015.9:g.85360302G>T	(Likely) benign	1 lab	ba9e683858
12:48367426 COL2A1 C>T	12	48367426	48367426	C	T	COL2A1	c.4318-90G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48367426C>T	(Likely) benign	1 lab	75078e9e23
14:81610129 TSHR C>T	14	81610129	81610129	C	T	TSHR	c.1727C>T	NM_000369.5	NP_000360.2:p.(Thr576Ile)	NC_000014.8:g.81610129C>T	VUS	1 lab	7512e35ae3
15:44867084 SPG11 A>AC	15	44867084	44867088	A	AC	SPG11	c.6006+15dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44867088dup	(Likely) benign	1 lab	7517e8f17e
17:48275335 COL1A1 C>T	17	48275335	48275335	C	T	COL1A1	c.617G>A	NM_000088.4	NP_000079.2:p.(Gly206Asp)	NC_000017.10:g.48275335C>T	(Likely) pathogenic	1 lab	7520c495c4
12:113354384 OAS1 G>A	12	113354384	113354384	G	A	OAS1	c.725G>A	NM_016816.4	NP_058132.2:p.(Arg242Gln)	NC_000012.11:g.113354384G>A	(Likely) benign	1 lab	7524f09343
14:23886534 MYH7 G>A	14	23886534	23886534	G	A	MYH7	c.4354-7C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886534G>A	(Likely) benign	1 lab	752679f0d0
20:62626461 PRPF6 A>T	20	62626461	62626461	A	T	PRPF6	c.615+16A>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62626461A>T	(Likely) benign	1 lab	7528375bdc
8:10469210 RP1L1 G>T	8	10469210	10469210	G	T	RP1L1	c.2398C>A	NM_178857.6	NP_849188.4:p.(Pro800Thr)	NC_000008.10:g.10469210G>T	(Likely) benign	1 lab	752957b709
7:33138983 RP9 A>G	7	33138983	33138983	A	G	RP9	c.249T>C	NM_203288.2	NP_976033.1:p.(Phe83=)	NC_000007.13:g.33138983A>G	(Likely) benign	1 lab	752b50c7b9
2:21225391 APOB G>A	2	21225391	21225391	G	A	APOB	c.12903C>T	NM_000384.3	NP_000375.3:p.(Asp4301=)	NC_000002.11:g.21225391G>A	(Likely) benign	1 lab	752b972d03
16:8898693 PMM2 G>A	16	8898693	8898693	G	A	PMM2	c.248G>A	NM_000303.3	NP_000294.1:p.(Cys83Tyr)	NC_000016.9:g.8898693G>A	VUS	1 lab	75307377c8
2:241715277 KIF1A C>T	2	241715277	241715277	C	T	KIF1A	c.949G>A	NM_001379631.1	NP_001366560.1:p.(Glu317Lys)	NC_000002.11:g.241715277C>T	VUS	1 lab	7531747c17
14:23887536 MYH7 G>A	14	23887536	23887536	G	A	MYH7	c.4052C>T	NM_000257.4	NP_000248.2:p.(Thr1351Met)	NC_000014.8:g.23887536G>A	VUS	1 lab	7531bfd3f8
11:95583005 MTMR2 C>A	11	95583005	95583005	C	A	MTMR2	c.610G>T	NM_001243571.2	NP_001230500.1:p.(Glu204Ter)	NC_000011.9:g.95583005C>A	(Likely) pathogenic	1 lab	753290fc8b
11:116662331 APOA5 G>T	11	116662331	116662331	G	T	APOA5	c.132C>A	NM_052968.5	NP_443200.2:p.(Ile44=)	NC_000011.9:g.116662331G>T	(Likely) benign	1 lab	7532a84826
19:11227957 LDLR G>GGTTCC	19	11227957	11227959	G	GGTTCC	LDLR	c.1845+284_1845+285insTTCCG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227958_11227959insTTCCG	(Likely) benign	1 lab	75356fc649
17:48276671 COL1A1 AG>A	17	48276671	48276677	AG	A	COL1A1	c.386del	NM_000088.4	NP_000079.2:p.(Pro129LeufsTer136)	NC_000017.10:g.48276677del	(Likely) pathogenic	1 lab	7535ea61c6
7:27150191 HOXA3 C>T	7	27150191	27150191	C	T	HOXA3	c.69G>A	NM_153631.3	NP_705895.1:p.(Gly23=)	NC_000007.13:g.27150191C>T	(Likely) benign	1 lab	753677617c
7:154672662 DPP6 C>T	7	154672662	154672662	C	T	DPP6	c.2133+10C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154672662C>T	(Likely) benign	1 lab	7538147769
19:11222296 LDLR G>A	19	11222296	11222296	G	A	LDLR	c.1167G>A	NM_000527.5	NP_000518.1:p.(Thr389=)	NC_000019.9:g.11222296G>A	(Likely) benign	1 lab	753a0483de
8:59404245 CYP7A1 A>G	8	59404245	59404245	A	G	CYP7A1	c.1304T>C	NM_000780.4	NP_000771.2:p.(Met435Thr)	NC_000008.10:g.59404245A>G	VUS	1 lab	753bed127d
X:70443765 GJB1 C>G	X	70443765	70443765	C	G	GJB1	c.208C>G	NM_000166.6	NP_000157.1:p.(Pro70Ala)	NC_000023.10:g.70443765C>G	(Likely) pathogenic	1 lab	75405daae6
15:67462996 SMAD3 G>A	15	67462996	67462996	G	A	SMAD3	c.658+54G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67462996G>A	(Likely) benign	1 lab	7543476c17
2:241689982 KIF1A C>T	2	241689982	241689982	C	T	KIF1A	c.2859-18G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241689982C>T	(Likely) benign	1 lab	754920c92d
15:44861674 SPG11 G>A	15	44861674	44861674	G	A	SPG11	c.6507C>T	NM_025137.4	NP_079413.3:p.(Tyr2169=)	NC_000015.9:g.44861674G>A	(Likely) benign	1 lab	754a15777c
2:44051506 ABCG5 T>C	2	44051506	44051506	T	C	ABCG5	c.970A>G	NM_022436.3	NP_071881.1:p.(Met324Val)	NC_000002.11:g.44051506T>C	VUS	1 lab	754abf929c
11:3838766 PGAP2 G>A	11	3838766	3838766	G	A	PGAP2	c.519+1G>A	NM_001256236.1	NP_001243165.1:p.?	NC_000011.9:g.3838766G>A	VUS	1 lab	754c34d78f
12:53729492 SP7 G>T	12	53729492	53729492	G	T	SP7	c.-47-15C>A	NM_001173467.3	NP_001166938.1:p.?	NC_000012.11:g.53729492G>T	(Likely) benign	1 lab	754ce2724b
19:10213423 MISSING Ref too long to show for this DEL>T	19	10213423	11327894	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.10213426_11327894del	(Likely) pathogenic	1 lab	754d344010
2:21234068 APOB T>A	2	21234068	21234068	T	A	APOB	c.5672A>T	NM_000384.3	NP_000375.3:p.(His1891Leu)	NC_000002.11:g.21234068T>A	VUS	1 lab	754d7c4909
1:45966012 MMACHC C>G	1	45966012	45966012	C	G	MMACHC	c.8C>G	NM_015506.3	NP_056321.2:p.(Pro3Arg)	NC_000001.10:g.45966012C>G	VUS	1 lab	773f1612f6
22:50658167 TUBGCP6 C>T	22	50658167	50658167	C	T	TUBGCP6	c.4221G>A	NM_020461.4	NP_065194.3:p.(Ser1407=)	NC_000022.10:g.50658167C>T	(Likely) benign	1 lab	75588e54b8
19:56284217 RFPL4AL1 A>T	19	56284217	56284217	A	T	RFPL4AL1	c.536A>T	NM_001277397.2	NP_001264326.1:p.(Glu179Val)	NC_000019.9:g.56284217A>T	(Likely) benign	1 lab	755bbbb4ea
6:162470865 PRKN Ref too long to show for this DEL>C	6	162470865	162606094	Ref too long to show for this DEL	C	PRKN	c.534+16069_618+4257del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162470866_162606094del	VUS	1 lab	755f309fbf
3:38645271 SCN5A C>T	3	38645271	38645271	C	T	SCN5A	c.1822G>A	NM_198056.3	NP_932173.1:p.(Asp608Asn)	NC_000003.11:g.38645271C>T	VUS	1 lab	755fa348bd
17:68172444 KCNJ2 C>T	17	68172444	68172444	C	T	KCNJ2	c.1264C>T	NM_000891.3	NP_000882.1:p.(Arg422Trp)	NC_000017.10:g.68172444C>T	VUS	1 lab	75658cb1e0
20:18297421 ZNF133 G>A	20	18297421	18297421	G	A	ZNF133	c.1923G>A	NM_003434.7	NP_003425.3:p.(Pro641=)	NC_000020.10:g.18297421G>A	(Likely) benign	1 lab	75663f8888
18:25727665 CDH2 A>C	18	25727665	25727665	A	C	CDH2	c.144T>G	NM_001792.5	NP_001783.2:p.(Asp48Glu)	NC_000018.9:g.25727665A>C	VUS	1 lab	75692f27c4
11:9838591 SBF2 G>A	11	9838591	9838591	G	A	SBF2	c.3794-20C>T	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9838591G>A	(Likely) benign	1 lab	756b27a811
19:50905324 POLD1 G>C	19	50905324	50905324	G	C	POLD1	c.532G>C	NM_001256849.1	NP_001243778.1:p.(Gly178Arg)	NC_000019.9:g.50905324G>C	VUS	1 lab	756b64045c
22:40802642 SGSM3 C>T	22	40802642	40802642	C	T	SGSM3	c.1161C>T	NM_015705.6	NP_056520.2:p.(Ala387=)	NC_000022.10:g.40802642C>T	(Likely) benign	1 lab	756bc991e5
5:148406585 SH3TC2 G>A	5	148406585	148406585	G	A	SH3TC2	c.2710C>T	NM_024577.4	NP_078853.2:p.(Arg904Ter)	NC_000005.9:g.148406585G>A	(Likely) pathogenic	1 lab	756d1dc4c0
1:245027099 HNRNPU G>A	1	245027099	245027099	G	A	HNRNPU	c.511C>T	NM_031844.3	NP_114032.2:p.(Gln171Ter)	NC_000001.10:g.245027099G>A	(Likely) pathogenic	1 lab	756d6e30a8
1:186121995 HMCN1 A>T	1	186121995	186121995	A	T	HMCN1	c.15010A>T	NM_031935.3	NP_114141.2:p.(Thr5004Ser)	NC_000001.10:g.186121995A>T	(Likely) benign	1 lab	756f2e7ee9
1:211844613 NEK2 C>T	1	211844613	211844613	C	T	NEK2	c.569G>A	NM_002497.4	NP_002488.1:p.(Arg190His)	NC_000001.10:g.211844613C>T	(Likely) benign	1 lab	7570009bbd
15:45386806 DUOX2 G>C	15	45386806	45386806	G	C	DUOX2	c.4479C>G	NM_014080.5	NP_054799.4:p.(Pro1493=)	NC_000015.9:g.45386806G>C	(Likely) benign	1 lab	7571acdf1e
16:57007295 CETP C>T	16	57007295	57007295	C	T	CETP	c.803C>T	NM_000078.3	NP_000069.2:p.(Ser268Leu)	NC_000016.9:g.57007295C>T	(Likely) benign	1 lab	7571df2b1c
1:228346798 GJC2 T>A	1	228346798	228346798	T	A	GJC2	c.*19T>A	NM_020435.4	NP_065168.2:p.?	NC_000001.10:g.228346798T>A	(Likely) benign	1 lab	7578150d55
8:10706485 MISSING Ref too long to show for this DEL>A	8	10706485	10831608	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.10706486_10831608del	VUS	1 lab	75819848bb
15:58834136 LIPC G>A	15	58834136	58834136	G	A	LIPC	c.426G>A	NM_000236.3	NP_000227.2:p.(Lys142=)	NC_000015.9:g.58834136G>A	(Likely) benign	1 lab	7581a71ebc
6:75898153 COL12A1 T>A	6	75898153	75898153	T	A	COL12A1	c.922A>T	NM_004370.6	NP_004361.3:p.(Ile308Phe)	NC_000006.11:g.75898153T>A	(Likely) benign	1 lab	75824e6b42
1:6520039 ESPN C>T	1	6520039	6520039	C	T	ESPN	c.2418-20C>T	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6520039C>T	(Likely) benign	1 lab	758846c675
15:73622049 HCN4 C>T	15	73622049	73622049	C	T	HCN4	c.1455G>A	NM_005477.3	NP_005468.1:p.(Ala485=)	NC_000015.9:g.73622049C>T	(Likely) benign	1 lab	7589972781
4:120079315 MYOZ2 T>A	4	120079315	120079315	T	A	MYOZ2	c.376+9T>A	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120079315T>A	(Likely) benign	1 lab	758cceef66
3:38751040 SCN10A A>C	3	38751040	38751040	A	C	SCN10A	c.4210T>G	NM_006514.4	NP_006505.4:p.(Phe1404Val)	NC_000003.11:g.38751040A>C	VUS	1 lab	7591c2f035
8:22262247 SLC39A14 G>A	8	22262247	22262247	G	A	SLC39A14	c.24G>A	NM_015359.6	NP_056174.2:p.(Pro8=)	NC_000008.10:g.22262247G>A	(Likely) benign	1 lab	7592e95299
11:82444668 FAM181B C>G	11	82444668	82444668	C	G	FAM181B	c.104G>C	NM_175885.4	NP_787081.2:p.(Gly35Ala)	NC_000011.9:g.82444668C>G	VUS	1 lab	7594973fe3
19:55316477 KIR2DL4 G>A	19	55316477	55316477	G	A	KIR2DL4	c.306G>A	NM_001080772.2	NP_001074241.1:p.(Pro102=)	NC_000019.9:g.55316477G>A	(Likely) benign	1 lab	7596b4bca0
12:22063155 ABCC9 A>G	12	22063155	22063155	A	G	ABCC9	c.1256T>C	NM_020297.4	NP_064693.2:p.(Ile419Thr)	NC_000012.11:g.22063155A>G	VUS	1 lab	759776c9b3
18:61053592 MISSING A>Alt too long to show for this DUP	18	61053592	61266004	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.61053594_61266004dup	VUS	1 lab	77abd487fe
9:107576519 ABCA1 G>T	9	107576519	107576519	G	T	ABCA1	c.3788-7C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576519G>T	VUS	1 lab	7599e0ed2d
19:11213450 LDLR G>A	19	11213450	11213450	G	A	LDLR	c.301G>A	NM_000527.5	NP_000518.1:p.(Glu101Lys)	NC_000019.9:g.11213450G>A	(Likely) pathogenic	1 lab	7599e40764
1:103471456 COL11A1 CCATCAT>C	1	103471456	103471488	CCATCAT	C	COL11A1	c.1828-15_1828-10del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103471483_103471488del	(Likely) benign	1 lab	759e6a41e1
5:149515270 PDGFRB T>C	5	149515270	149515270	T	C	PDGFRB	c.212A>G	NM_002609.4	NP_002600.1:p.(Gln71Arg)	NC_000005.9:g.149515270T>C	(Likely) benign	1 lab	75a343d5a9
6:84095927 MISSING Ref too long to show for this DEL>A	6	84095927	84165689	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.84095928_84165689del	VUS	1 lab	75a91737d9
15:85383561 ALPK3 G>A	15	85383561	85383561	G	A	ALPK3	c.1051G>A	NM_020778.5	NP_065829.4:p.(Glu351Lys)	NC_000015.9:g.85383561G>A	VUS	1 lab	75a9e2ee89
8:19810886 LPL T>C	8	19810886	19810886	T	C	LPL	c.495T>C	NM_000237.3	NP_000228.1:p.(Ala165=)	NC_000008.10:g.19810886T>C	(Likely) benign	1 lab	75aaa3b9fa
9:107555088 ABCA1 T>C	9	107555088	107555088	T	C	ABCA1	c.5736A>G	NM_005502.4	NP_005493.2:p.(Leu1912=)	NC_000009.11:g.107555088T>C	(Likely) benign	1 lab	75ad060ecd
19:13246406 NACC1 G>T	19	13246406	13246406	G	T	NACC1	c.385G>T	NM_052876.4	NP_443108.1:p.(Asp129Tyr)	NC_000019.9:g.13246406G>T	VUS	1 lab	75ae6dcae1
16:88503667 ZNF469 G>A	16	88503667	88503667	G	A	ZNF469	c.9789G>A	NM_001367624.2	NP_001354553.1:p.(Lys3263=)	NC_000016.9:g.88503667G>A	(Likely) benign	1 lab	75ae92c323
9:32543444 TOPORS C>T	9	32543444	32543444	C	T	TOPORS	c.1079G>A	NM_005802.5	NP_005793.2:p.(Arg360Gln)	NC_000009.11:g.32543444C>T	VUS	1 lab	75aebda9ab
17:63223425 RGS9 G>A	17	63223425	63223425	G	A	RGS9	c.1925G>A	NM_003835.4	NP_003826.2:p.(Gly642Glu)	NC_000017.10:g.63223425G>A	(Likely) benign	1 lab	75af69534b
22:40058393 CACNA1I A>T	22	40058393	40058393	A	T	CACNA1I	c.3325A>T	NM_021096.4	NP_066919.2:p.(Met1109Leu)	NC_000022.10:g.40058393A>T	(Likely) benign	1 lab	75b0487cb4
11:65835675 SF3B2 G>A	11	65835675	65835675	G	A	SF3B2	c.2487G>A	NM_006842.3	NP_006833.2:p.(Ala829=)	NC_000011.9:g.65835675G>A	(Likely) benign	1 lab	75b09106e3
19:55666150 TNNI3 T>C	19	55666150	55666150	T	C	TNNI3	c.331A>G	NM_000363.5	NP_000354.4:p.(Arg111Gly)	NC_000019.9:g.55666150T>C	VUS	1 lab	75b1aeb1dc
6:75893677 COL12A1 A>G	6	75893677	75893677	A	G	COL12A1	c.1181T>C	NM_004370.6	NP_004361.3:p.(Leu394Pro)	NC_000006.11:g.75893677A>G	VUS	1 lab	75b5dca030
2:179473934 TTN C>T	2	179473934	179473934	C	T	TTN	c.52102+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179473934C>T	VUS	1 lab	75b65a8c0a
2:1437204 TPO C>A	2	1437204	1437204	C	A	TPO	c.180-6C>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1437204C>A	(Likely) benign	1 lab	75b800d4f2
1:201035013 CACNA1S T>C	1	201035013	201035013	T	C	CACNA1S	c.2806A>G	NM_000069.3	NP_000060.2:p.(Thr936Ala)	NC_000001.10:g.201035013T>C	VUS	1 lab	75baa70af3
2:21230027 APOB G>A	2	21230027	21230027	G	A	APOB	c.9713C>T	NM_000384.3	NP_000375.3:p.(Ser3238Phe)	NC_000002.11:g.21230027G>A	VUS	1 lab	75bbf42fbe
22:46929692 CELSR1 A>G	22	46929692	46929692	A	G	CELSR1	c.3376T>C	NM_001378328.1	NP_001365257.1:p.(Cys1126Arg)	NC_000022.10:g.46929692A>G	(Likely) benign	1 lab	75bc8c7a8f
19:1827020 REXO1 T>TGGA	19	1827020	1827047	T	TGGA	REXO1	c.1765_1767dup	NM_020695.4	NP_065746.3:p.(Ser589dup)	NC_000019.9:g.1827045_1827047dup	(Likely) benign	1 lab	75bcd60d9c
6:75825977 COL12A1 T>C	6	75825977	75825977	T	C	COL12A1	c.7520-204A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75825977T>C	(Likely) benign	1 lab	75c0dff8a7
2:179444349 TTN A>C	2	179444349	179444349	A	C	TTN	c.67575T>G	NM_001267550.2	NP_001254479.2:p.(Ala22525=)	NC_000002.11:g.179444349A>C	(Likely) benign	1 lab	75c437d66d
X:154110371 MISSING Ref too long to show for this DEL>C	X	154110371	154617577	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.154110372_154617577del	(Likely) pathogenic	1 lab	75c5549aea
11:65314581 LTBP3 G>A	11	65314581	65314581	G	A	LTBP3	c.2108-190C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65314581G>A	(Likely) benign	1 lab	75ca5936fe
2:96970601 SNRNP200 C>A	2	96970601	96970601	C	A	SNRNP200	c.51G>T	NM_014014.5	NP_054733.2:p.(Ser17=)	NC_000002.11:g.96970601C>A	(Likely) benign	1 lab	75d23b2a10
12:21350135 SLCO1B1 C>T	12	21350135	21350135	C	T	SLCO1B1	c.970+13C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21350135C>T	(Likely) benign	1 lab	75d295db94
6:44279872 AARS2 G>T	6	44279872	44279872	G	T	AARS2	c.372C>A	NM_020745.4	NP_065796.2:p.(Asp124Glu)	NC_000006.11:g.44279872G>T	(Likely) pathogenic	1 lab	75d3029727
9:107593318 ABCA1 C>T	9	107593318	107593318	C	T	ABCA1	c.1780G>A	NM_005502.4	NP_005493.2:p.(Ala594Thr)	NC_000009.11:g.107593318C>T	(Likely) benign	1 lab	75d3e5a7c0
7:5853099 MISSING T>Alt too long to show for this DUP	7	5853099	6115416	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.5853100_6115416dup	VUS	1 lab	75d7aa50fd
2:21227516 APOB C>T	2	21227516	21227516	C	T	APOB	c.11820G>A	NM_000384.3	NP_000375.3:p.(Thr3940=)	NC_000002.11:g.21227516C>T	(Likely) benign	1 lab	75dab462c0
16:960949 LMF1 G>A	16	960949	960949	G	A	LMF1	c.246C>T	NM_001352018.2	NP_001338947.1:p.(Phe82=)	NC_000016.9:g.960949G>A	(Likely) benign	1 lab	75db593a79
11:87820306 MISSING Ref too long to show for this DEL>C	11	87820306	87881568	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.87820307_87881568del	VUS	1 lab	75dcca4c6f
9:35738871 GBA2 A>G	9	35738871	35738871	A	G	GBA2	c.1825T>C	NM_020944.3	NP_065995.1:p.(Tyr609His)	NC_000009.11:g.35738871A>G	(Likely) pathogenic	1 lab	75e0f40fcf
22:26181366 MYO18B CT>C	22	26181366	26181367	CT	C	MYO18B	c.2313-28del	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26181367del	(Likely) benign	1 lab	75e411f924
1:196706008 CFH T>G	1	196706008	196706008	T	G	CFH	c.2468T>G	NM_000186.4	NP_000177.2:p.(Met823Arg)	NC_000001.10:g.196706008T>G	VUS	1 lab	75e50f0f42
22:41923407 POLR3H G>A	22	41923407	41923407	G	A	POLR3H	c.*1880C>T	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41923407G>A	(Likely) benign	1 lab	75e6e7d17e
2:29287897 PCARE C>T	2	29287897	29287897	C	T	PCARE	c.3705G>A	NM_001029883.3	NP_001025054.1:p.(Pro1235=)	NC_000002.11:g.29287897C>T	(Likely) benign	1 lab	75e7866979
4:100528055 MTTP C>A	4	100528055	100528055	C	A	MTTP	c.1495C>A	NM_000253.4	NP_000244.2:p.(Pro499Thr)	NC_000004.11:g.100528055C>A	(Likely) benign	1 lab	75ea29f655
3:62718439 MISSING T>Alt too long to show for this DUP	3	62718439	63185049	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.62718440_63185049dup	VUS	1 lab	75ea79ded1
1:45796852 MUTYH G>A	1	45796852	45796852	G	A	MUTYH	c.1476+2C>T	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45796852G>A	VUS	1 lab	75ef30e0a7
15:48892339 FBN1 G>A	15	48892339	48892339	G	A	FBN1	c.439C>T	NM_000138.5	NP_000129.3:p.(Gln147Ter)	NC_000015.9:g.48892339G>A	(Likely) pathogenic	1 lab	75f1016e70
12:110252574 TRPV4 C>G	12	110252574	110252574	C	G	TRPV4	c.28G>C	NM_021625.5	NP_067638.3:p.(Ala10Pro)	NC_000012.11:g.110252574C>G	(Likely) benign	1 lab	75f414e2d3
3:133673824 SLCO2A1 G>A	3	133673824	133673824	G	A	SLCO2A1	c.611C>T	NM_005630.3	NP_005621.2:p.(Ser204Leu)	NC_000003.11:g.133673824G>A	VUS	1 lab	75f5159d61
11:121475043 SORL1 G>A	11	121475043	121475043	G	A	SORL1	c.4651+10G>A	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121475043G>A	(Likely) benign	1 lab	75f700c7c0
16:1412190 GNPTG C>T	16	1412190	1412190	C	T	GNPTG	c.412-17C>T	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1412190C>T	(Likely) benign	1 lab	75f744fd68
17:41243502 BRCA1 G>A	17	41243502	41243502	G	A	BRCA1	c.4046C>T	NM_007294.4	NP_009225.1:p.(Thr1349Met)	NC_000017.10:g.41243502G>A	(Likely) benign	1 lab	75f7483e93
9:137734043 COL5A1 C>A	9	137734043	137734043	C	A	COL5A1	c.5411C>A	NM_000093.5	NP_000084.3:p.(Thr1804Asn)	NC_000009.11:g.137734043C>A	VUS	1 lab	75f90e0d7c
4:100529714 MTTP C>T	4	100529714	100529714	C	T	MTTP	c.1558-209C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100529714C>T	(Likely) benign	1 lab	75fc226a10
11:76825304 CAPN5 CAGGCCCTGGATGG>C	11	76825304	76825321	CAGGCCCTGGATGG	C	CAPN5	c.528_540del	NM_004055.5	NP_004046.2:p.(Leu177ThrfsTer19)	NC_000011.9:g.76825309_76825321del	VUS	1 lab	75fe05a910
12:989029 WNK1 A>G	12	989029	989029	A	G	WNK1	c.2664A>G	NM_018979.4	NP_061852.3:p.(Val888=)	NC_000012.11:g.989029A>G	(Likely) benign	1 lab	760024e79e
1:197404386 CRB1 T>C	1	197404386	197404386	T	C	CRB1	c.3321T>C	NM_001257965.2	NP_001244894.1:p.(Asn1107=)	NC_000001.10:g.197404386T>C	(Likely) benign	1 lab	7604d20064
10:62038544 ANK3 A>G	10	62038544	62038544	A	G	ANK3	c.402T>C	NM_020987.5	NP_066267.2:p.(Asn134=)	NC_000010.10:g.62038544A>G	(Likely) benign	1 lab	7605554f12
2:179458065 TTN G>A	2	179458065	179458065	G	A	TTN	c.58870C>T	NM_001267550.2	NP_001254479.2:p.(Arg19624Ter)	NC_000002.11:g.179458065G>A	(Likely) pathogenic	1 lab	7606bfb9ec
9:32542803 TOPORS G>C	9	32542803	32542803	G	C	TOPORS	c.1720C>G	NM_005802.5	NP_005793.2:p.(Leu574Val)	NC_000009.11:g.32542803G>C	(Likely) benign	1 lab	760712feae
12:33021917 PKP2 C>T	12	33021917	33021917	C	T	PKP2	c.1114G>A	NM_004572.4	NP_004563.2:p.(Ala372Thr)	NC_000012.11:g.33021917C>T	VUS	1 lab	7608b107aa
6:87953298 ZNF292 C>T	6	87953298	87953298	C	T	ZNF292	c.427C>T	NM_001351444.2	NP_001338373.1:p.(Gln143Ter)	NC_000006.11:g.87953298C>T	(Likely) pathogenic	1 lab	7609994aaf
11:4045138 STIM1 A>G	11	4045138	4045138	A	G	STIM1	c.306A>G	NM_001277961.3	NP_001264890.1:p.(Thr102=)	NC_000011.9:g.4045138A>G	(Likely) benign	1 lab	760b5dab06
16:46781615 MYLK3 A>G	16	46781615	46781615	A	G	MYLK3	c.477+14T>C	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46781615A>G	(Likely) benign	1 lab	76143d4eb8
12:862723 WNK1 G>T	12	862723	862723	G	T	WNK1	c.-9G>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.862723G>T	(Likely) benign	1 lab	7614b0e774
19:42753350 ERF AAGG>A	19	42753350	42753355	AAGG	A	ERF	c.911_913del	NM_006494.4	NP_006485.2:p.(Ser304del)	NC_000019.9:g.42753353_42753355del	VUS	1 lab	7616a8b47b
X:70439000 GJB1 C>CTTATTATTA	X	70439000	70439038	C	CTTATTATTA	GJB1	c.-17+3890_-17+3898dup	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439030_70439038dup	(Likely) benign	1 lab	7616b8276f
6:32036313 TNXB T>A	6	32036313	32036313	T	A	TNXB	c.6074A>T	NM_019105.8	NP_061978.6:p.(Asp2025Val)	NC_000006.11:g.32036313T>A	VUS	1 lab	761719f01c
7:91632303 AKAP9 G>C	7	91632303	91632303	G	C	AKAP9	c.3072G>C	NM_005751.5	NP_005742.4:p.(Val1024=)	NC_000007.13:g.91632303G>C	(Likely) benign	1 lab	761753f027
5:177034283 B4GALT7 G>A	5	177034283	177034283	G	A	B4GALT7	c.414-20G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177034283G>A	(Likely) benign	1 lab	7617ea31fe
16:961375 LMF1 C>T	16	961375	961375	C	T	LMF1	c.116-296G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.961375C>T	(Likely) benign	1 lab	76196b24a5
19:45412435 APOE G>T	19	45412435	45412435	G	T	APOE	c.960G>T	NM_001302688.2	NP_001289617.1:p.(Trp320Cys)	NC_000019.9:g.45412435G>T	VUS	1 lab	761ab83b6e
16:2136794 TSC2 G>A	16	2136794	2136794	G	A	TSC2	c.4911G>A	NM_000548.5	NP_000539.2:p.(Lys1637=)	NC_000016.9:g.2136794G>A	(Likely) benign	1 lab	761ba6c81a
X:41554814 CASK T>C	X	41554814	41554814	T	C	CASK	c.430-24031A>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41554814T>C	(Likely) benign	1 lab	761c10f399
X:140993875 MAGEC1 G>C	X	140993875	140993875	G	C	MAGEC1	c.685G>C	NM_005462.5	NP_005453.2:p.(Ala229Pro)	NC_000023.10:g.140993875G>C	(Likely) benign	1 lab	761cf90eb5
X:71165047 MISSING Ref too long to show for this DEL>T	X	71165047	73071191	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.71165049_73071191del	(Likely) pathogenic	1 lab	761dbb362a
5:133942666 SAR1B G>A	5	133942666	133942666	G	A	SAR1B	c.571C>T	NM_001033503.3	NP_001028675.1:p.(Arg191Cys)	NC_000005.9:g.133942666G>A	VUS	1 lab	761f6958a1
18:34233383 FHOD3 G>A	18	34233383	34233383	G	A	FHOD3	c.1721+4G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34233383G>A	(Likely) benign	1 lab	7620960f3f
16:46746626 MYLK3 A>G	16	46746626	46746626	A	G	MYLK3	c.2048T>C	NM_182493.3	NP_872299.2:p.(Val683Ala)	NC_000016.9:g.46746626A>G	VUS	1 lab	76224ff0b9
17:48269942 COL1A1 G>T	17	48269942	48269942	G	T	COL1A1	c.1930-53C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269942G>T	(Likely) benign	1 lab	76256ae190
12:68690765 SAXO6 T>TA	12	68690765	68690776	T	TA	SAXO6	c.1973-4dup	NM_017440.6	NP_059136.2:p.?	NC_000012.11:g.68690776dup	(Likely) benign	1 lab	7625edb9e5
19:15288850 NOTCH3 G>T	19	15288850	15288850	G	T	NOTCH3	c.3889C>A	NM_000435.3	NP_000426.2:p.(Gln1297Lys)	NC_000019.9:g.15288850G>T	(Likely) benign	1 lab	7626c6b70e
13:49034022 RB1 A>AT	13	49034022	49034024	A	AT	RB1	c.2106+55dup	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49034024dup	(Likely) benign	1 lab	76283d8eed
11:47357017 MYBPC3 C>A	11	47357017	47357017	C	A	MYBPC3	c.2738-257G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357017C>A	(Likely) benign	1 lab	7628cbfcb6
1:22160033 HSPG2 G>A	1	22160033	22160033	G	A	HSPG2	c.10908C>T	NM_001291860.2	NP_001278789.1:p.(Asp3636=)	NC_000001.10:g.22160033G>A	(Likely) benign	1 lab	762c1e36f0
7:87934910 MISSING Ref too long to show for this DEL>A	7	87934910	88110987	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.87934912_88110987del	VUS	1 lab	762c9b4480
9:107586871 ABCA1 G>A	9	107586871	107586871	G	A	ABCA1	c.2543-12C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107586871G>A	(Likely) benign	1 lab	762f72494c
4:119736850 SEC24D G>A	4	119736850	119736850	G	A	SEC24D	c.429C>T	NM_001318066.2	NP_001304995.1:p.(Pro143=)	NC_000004.11:g.119736850G>A	(Likely) benign	1 lab	762ff33bbf
5:131533963 P4HA2 T>C	5	131533963	131533963	T	C	P4HA2	c.1307A>G	NM_004199.3	NP_004190.1:p.(Asn436Ser)	NC_000005.9:g.131533963T>C	(Likely) benign	1 lab	7630290e21
2:179523771 TTN C>T	2	179523771	179523771	C	T	TTN	c.37414G>A	NM_001267550.2	NP_001254479.2:p.(Glu12472Lys)	NC_000002.11:g.179523771C>T	VUS	1 lab	76308aa100
18:25565007 CDH2 G>A	18	25565007	25565007	G	A	CDH2	c.2166C>T	NM_001792.5	NP_001783.2:p.(Thr722=)	NC_000018.9:g.25565007G>A	(Likely) benign	1 lab	7636330198
11:17417337 ABCC8 C>T	11	17417337	17417337	C	T	ABCC8	c.4201+62G>A	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17417337C>T	(Likely) benign	1 lab	763c223598
17:15134218 PMP22 A>T	17	15134218	15134218	A	T	PMP22	c.*16T>A	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15134218A>T	(Likely) benign	1 lab	763c2ce0a7
10:63977011 RTKN2 GAAAA>G	10	63977011	63977029	GAAAA	G	RTKN2	c.889-7_889-4del	NM_145307.4	NP_660350.2:p.?	NC_000010.10:g.63977026_63977029del	(Likely) benign	1 lab	763d970fb1
3:129150399 MBD4 A>T	3	129150399	129150399	A	T	MBD4	c.1688T>A	NM_003925.3	NP_003916.1:p.(Leu563Ter)	NC_000003.11:g.129150399A>T	(Likely) pathogenic	1 lab	7640c3416a
7:128482417 FLNC A>G	7	128482417	128482417	A	G	FLNC	c.2254A>G	NM_001458.5	NP_001449.3:p.(Ser752Gly)	NC_000007.13:g.128482417A>G	VUS	1 lab	7647b2e868
18:47095807 LIPG G>A	18	47095807	47095807	G	A	LIPG	c.460G>A	NM_006033.4	NP_006024.1:p.(Glu154Lys)	NC_000018.9:g.47095807G>A	VUS	1 lab	7648edb846
2:21252492 APOB C>T	2	21252492	21252492	C	T	APOB	c.1617+19G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252492C>T	(Likely) benign	1 lab	764a5965c7
1:5934703 NPHP4 C>A	1	5934703	5934703	C	A	NPHP4	c.3059G>T	NM_015102.5	NP_055917.1:p.(Ser1020Ile)	NC_000001.10:g.5934703C>A	VUS	1 lab	764ef4d53c
3:53814133 CACNA1D G>A	3	53814133	53814133	G	A	CACNA1D	c.4728G>A	NM_000720.4	NP_000711.1:p.(Thr1576=)	NC_000003.11:g.53814133G>A	(Likely) benign	1 lab	764f267351
11:111779469 CRYAB G>A	11	111779469	111779469	G	A	CRYAB	c.*19C>T	NM_001885.3	NP_001876.1:p.?	NC_000011.9:g.111779469G>A	(Likely) benign	1 lab	76529cf736
16:30998152 HSD3B7 T>C	16	30998152	30998152	T	C	HSD3B7	c.531+127T>C	NM_001142777.2	NP_001136249.1:p.?	NC_000016.9:g.30998152T>C	(Likely) benign	1 lab	7658cbe5da
3:111873902 SLC9C1 T>TA	3	111873902	111873916	T	TA	SLC9C1	c.3365-7dup	NM_183061.3	NP_898884.1:p.?	NC_000003.11:g.111873916dup	(Likely) benign	1 lab	765c87078c
1:878159 SAMD11 C>T	1	878159	878159	C	T	SAMD11	c.1777C>T	NM_001385640.1	NP_001372569.1:p.(Arg593Trp)	NC_000001.10:g.878159C>T	(Likely) benign	1 lab	765f7cf1fd
11:116660972 APOA5 C>T	11	116660972	116660972	C	T	APOA5	c.973G>A	NM_052968.5	NP_443200.2:p.(Ala325Thr)	NC_000011.9:g.116660972C>T	(Likely) benign	1 lab	76623e57e7
19:11241938 LDLR G>A	19	11241938	11241938	G	A	LDLR	c.2548-19G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241938G>A	(Likely) benign	1 lab	76625c90cd
1:25892880 LDLRAP1 T>G	1	25892880	25892880	T	G	LDLRAP1	c.783-459T>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25892880T>G	(Likely) benign	1 lab	76646bc8a6
3:30703075 TGFBR2 C>T	3	30703075	30703075	C	T	TGFBR2	c.530-10055C>T	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30703075C>T	(Likely) benign	1 lab	7664e6e8d2
1:74819726 TNNI3K G>T	1	74819726	74819726	G	T	TNNI3K	c.1090G>T	NM_015978.3	NP_057062.1:p.(Ala364Ser)	NC_000001.10:g.74819726G>T	VUS	1 lab	766a752fc4
9:12694323 TYRP1 C>A	9	12694323	12694323	C	A	TYRP1	c.327C>A	NM_000550.3	NP_000541.1:p.(Asn109Lys)	NC_000009.11:g.12694323C>A	VUS	1 lab	766a7e240d
1:55523740 PCSK9 G>A	1	55523740	55523740	G	A	PCSK9	c.1212G>A	NM_174936.4	NP_777596.2:p.(Pro404=)	NC_000001.10:g.55523740G>A	(Likely) benign	1 lab	766c818f3c
11:1017200 MUC6 G>C	11	1017200	1017200	G	C	MUC6	c.5601C>G	NM_005961.3	NP_005952.2:p.(Ala1867=)	NC_000011.9:g.1017200G>C	(Likely) benign	1 lab	766d33417c
10:67863016 CTNNA3 A>G	10	67863016	67863016	A	G	CTNNA3	c.1885-9T>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67863016A>G	(Likely) benign	1 lab	7670dc9b79
5:172659738 NKX2-5 C>T	5	172659738	172659738	C	T	NKX2-5	c.809G>A	NM_004387.4	NP_004378.1:p.(Cys270Tyr)	NC_000005.9:g.172659738C>T	VUS	1 lab	7672003b30
2:179528806 TTN C>T	2	179528806	179528806	C	T	TTN	c.36300G>A	NM_001267550.2	NP_001254479.2:p.(Glu12100=)	NC_000002.11:g.179528806C>T	(Likely) benign	1 lab	7672ee3b6c
3:2581623 CNTN4 Ref too long to show for this DEL>T	3	2581623	2644210	Ref too long to show for this DEL	T	CNTN4	c.-88-31475_55+30968del	NM_175607.3	NP_783200.1:p.?	NC_000003.11:g.2581625_2644210del	(Likely) pathogenic	1 lab	76778dd10d
9:107589231 ABCA1 C>T	9	107589231	107589231	C	T	ABCA1	c.2335G>A	NM_005502.4	NP_005493.2:p.(Ala779Thr)	NC_000009.11:g.107589231C>T	VUS	1 lab	767c88c036
18:53031781 TCF4 Ref too long to show for this DEL>C	18	53031781	53211776	Ref too long to show for this DEL	C	TCF4	c.145+40735_370-13548del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53031782_53211776del	(Likely) pathogenic	1 lab	767de33fd4
12:42499826 GXYLT1 T>C	12	42499826	42499826	T	C	GXYLT1	c.658A>G	NM_173601.2	NP_775872.1:p.(Ile220Val)	NC_000012.11:g.42499826T>C	(Likely) benign	1 lab	767f34c914
17:48267458 COL1A1 G>T	17	48267458	48267458	G	T	COL1A1	c.2463C>A	NM_000088.4	NP_000079.2:p.(Gly821=)	NC_000017.10:g.48267458G>T	(Likely) benign	1 lab	768121cef4
16:947860 LMF1 C>T	16	947860	947860	C	T	LMF1	c.265-4788G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.947860C>T	(Likely) benign	1 lab	7682642859
15:48725307 FBN1 A>G	15	48725307	48725307	A	G	FBN1	c.6617-122T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48725307A>G	(Likely) benign	1 lab	768365a72c
11:71238745 KRTAP5-7 C>CAG	11	71238745	71238746	C	CAG	KRTAP5-7	c.399_400insAG	NM_001012503.2	NP_001012521.1:p.(Gly135GlnfsTer41)	NC_000011.9:g.71238745_71238746insAG	(Likely) benign	1 lab	76854c2fca
15:89754044 RLBP1 C>T	15	89754044	89754044	C	T	RLBP1	c.685-4G>A	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89754044C>T	(Likely) benign	1 lab	768612892d
15:48725284 FBN1 A>G	15	48725284	48725284	A	G	FBN1	c.6617-99T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48725284A>G	(Likely) benign	1 lab	768726bb57
3:132406078 NPHP3 A>C	3	132406078	132406078	A	C	NPHP3	c.3126-8T>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132406078A>C	(Likely) benign	1 lab	768f6561b3
5:130761722 RAPGEF6 G>Alt too long to show for this DUP	5	130761722	130940509	G	Alt too long to show for this DUP	RAPGEF6	c.70-122_*1236dup	NM_016340.6	NP_057424.3:p.?	NC_000005.9:g.130761724_130940509dup	VUS	1 lab	768fdbc481
3:193361821 OPA1 C>T	3	193361821	193361821	C	T	OPA1	c.1535C>T	NM_130837.3	NP_570850.2:p.(Pro512Leu)	NC_000003.11:g.193361821C>T	VUS	1 lab	7693e72668
5:11557284 CTNND2 Ref too long to show for this DEL>A	5	11557284	11630370	Ref too long to show for this DEL	A	CTNND2	c.175-65202_287+7771del	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11557285_11630370del	VUS	1 lab	7696c32e49
4:82831314 MISSING Ref too long to show for this DEL>C	4	82831314	83909418	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.82831315_83909418del	(Likely) pathogenic	1 lab	7698b1f22f
9:137707292 COL5A1 G>A	9	137707292	137707292	G	A	COL5A1	c.4015-130G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137707292G>A	(Likely) benign	1 lab	76a1b578ee
19:55316423 KIR2DL4 T>G	19	55316423	55316423	T	G	KIR2DL4	c.252T>G	NM_001080772.2	NP_001074241.1:p.(Ile84Met)	NC_000019.9:g.55316423T>G	(Likely) benign	1 lab	76a2478b03
20:25371287 ABHD12 G>C	20	25371287	25371287	G	C	ABHD12	c.53C>G	NM_001042472.3	NP_001035937.1:p.(Ala18Gly)	NC_000020.10:g.25371287G>C	VUS	1 lab	76a24fda2b
1:91629306 MISSING G>Alt too long to show for this DUP	1	91629306	92080059	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.91629307_92080059dup	VUS	1 lab	76a9db24b8
6:123699045 TRDN T>C	6	123699045	123699045	T	C	TRDN	c.1187-2A>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123699045T>C	VUS	1 lab	76ac52f15a
19:42777359 CIC C>T	19	42777359	42777359	C	T	CIC	c.1424C>T	NM_001304815.2	NP_001291744.1:p.(Thr475Ile)	NC_000019.9:g.42777359C>T	VUS	1 lab	76ac7a6f17
1:22183560 HSPG2 G>A	1	22183560	22183560	G	A	HSPG2	c.5526C>T	NM_001291860.2	NP_001278789.1:p.(Thr1842=)	NC_000001.10:g.22183560G>A	(Likely) benign	1 lab	76ae6113e3
10:88441569 LDB3 C>T	10	88441569	88441569	C	T	LDB3	c.689+9C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88441569C>T	(Likely) benign	1 lab	76aeb1d354
X:106888393 PRPS1 G>A	X	106888393	106888393	G	A	PRPS1	c.531-14G>A	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106888393G>A	(Likely) benign	1 lab	76af4d29b7
11:27679479 BDNF G>A	11	27679479	27679479	G	A	BDNF	c.633C>T	NM_170735.6	NP_733931.1:p.(Thr211=)	NC_000011.9:g.27679479G>A	VUS	1 lab	76b05e5bcf
7:30668214 GARS1 G>A	7	30668214	30668214	G	A	GARS1	c.1738G>A	NM_002047.4	NP_002038.2:p.(Gly580Ser)	NC_000007.13:g.30668214G>A	(Likely) pathogenic	1 lab	76b0c7db88
1:17314870 ATP13A2 G>C	1	17314870	17314870	G	C	ATP13A2	c.2694C>G	NM_001141973.3	NP_001135445.1:p.(Val898=)	NC_000001.10:g.17314870G>C	(Likely) benign	1 lab	76b261c8d0
17:7358684 CHRNB1 T>C	17	7358684	7358684	T	C	CHRNB1	c.1126T>C	NM_000747.3	NP_000738.2:p.(Cys376Arg)	NC_000017.10:g.7358684T>C	VUS	1 lab	76b43d4d78
X:31515080 DMD G>A	X	31515080	31515080	G	A	DMD	c.8022-19C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31515080G>A	(Likely) benign	1 lab	76b6d03355
15:85402811 ALPK3 A>G	15	85402811	85402811	A	G	ALPK3	c.3965+190A>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402811A>G	(Likely) benign	1 lab	76b6f9446e
3:195512235 MUC4 T>C	3	195512235	195512235	T	C	MUC4	c.6216A>G	NM_018406.7	NP_060876.5:p.(Ser2072=)	NC_000003.11:g.195512235T>C	(Likely) benign	1 lab	76b9da96b4
19:11210940 LDLR G>A	19	11210940	11210940	G	A	LDLR	c.109G>A	NM_000527.5	NP_000518.1:p.(Gly37Arg)	NC_000019.9:g.11210940G>A	VUS	1 lab	76baee1be2
2:179581864 TTN T>C	2	179581864	179581864	T	C	TTN	c.25597A>G	NM_001267550.2	NP_001254479.2:p.(Ile8533Val)	NC_000002.11:g.179581864T>C	(Likely) benign	1 lab	76bcf02f9d
8:92407333 SLC26A7 T>C	8	92407333	92407333	T	C	SLC26A7	c.*8T>C	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92407333T>C	(Likely) benign	1 lab	76c1655406
16:77375655 ADAMTS18 C>T	16	77375655	77375655	C	T	ADAMTS18	c.1656G>A	NM_199355.4	NP_955387.1:p.(Arg552=)	NC_000016.9:g.77375655C>T	(Likely) benign	1 lab	76c34f1313
6:56483777 DST A>G	6	56483777	56483777	A	G	DST	c.5055T>C	NM_001723.7	NP_001714.1:p.(Asn1685=)	NC_000006.11:g.56483777A>G	(Likely) benign	1 lab	76c486fd92
17:79813331 P4HB T>C	17	79813331	79813331	T	C	P4HB	c.484A>G	NM_000918.4	NP_000909.2:p.(Lys162Glu)	NC_000017.10:g.79813331T>C	VUS	1 lab	76c4b21b5a
1:78399136 NEXN T>G	1	78399136	78399136	T	G	NEXN	c.1223T>G	NM_144573.4	NP_653174.3:p.(Phe408Cys)	NC_000001.10:g.78399136T>G	VUS	1 lab	76c6c2547d
10:46321904 AGAP4 C>T	10	46321904	46321904	C	T	AGAP4	c.1520G>A	NM_001276343.2	NP_001263272.2:p.(Arg507His)	NC_000010.10:g.46321904C>T	(Likely) benign	1 lab	76ca731bf3
19:1220727 STK11 C>T	19	1220727	1220727	C	T	STK11	c.734+11C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220727C>T	(Likely) benign	1 lab	76cc6d6e09
10:112590916 RBM20 C>T	10	112590916	112590916	C	T	RBM20	c.3549C>T	NM_001134363.3	NP_001127835.2:p.(Ser1183=)	NC_000010.10:g.112590916C>T	(Likely) benign	1 lab	76cd4bed97
12:32793261 FGD4 A>G	12	32793261	32793261	A	G	FGD4	c.1063A>G	NM_001304484.2	NP_001291413.1:p.(Met355Val)	NC_000012.11:g.32793261A>G	VUS	1 lab	76ce718739
11:116661137 APOA5 C>T	11	116661137	116661137	C	T	APOA5	c.808G>A	NM_052968.5	NP_443200.2:p.(Ala270Thr)	NC_000011.9:g.116661137C>T	VUS	1 lab	76cf632532
X:153640406 DNASE1L1 C>T	X	153640406	153640406	C	T	DNASE1L1	c.-609=	NM_001009932.3	NP_001009932.1:p.?	NC_000023.10:g.153640406C>T	(Likely) benign	1 lab	76d3bf1be3
16:89346591 ANKRD11 C>T	16	89346591	89346591	C	T	ANKRD11	c.6359G>A	NM_001256182.2	NP_001243111.1:p.(Trp2120Ter)	NC_000016.9:g.89346591C>T	(Likely) pathogenic	1 lab	76d454b1bb
20:503118 MISSING Ref too long to show for this DEL>A	20	503118	538247	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.503119_538247del	VUS	1 lab	76d539da55
9:107645244 ABCA1 A>C	9	107645244	107645244	A	C	ABCA1	c.421+76T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645244A>C	(Likely) benign	1 lab	76d5e2ae6c
1:227788389 MISSING T>Alt too long to show for this DUP	1	227788389	227934750	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.227788391_227934750dup	VUS	1 lab	76d608fd62
1:55509586 PCSK9 G>A	1	55509586	55509586	G	A	PCSK9	c.278G>A	NM_174936.4	NP_777596.2:p.(Arg93His)	NC_000001.10:g.55509586G>A	VUS	1 lab	76d8a3ab1b
1:43212449 P3H1 G>A	1	43212449	43212449	G	A	P3H1	c.2130C>T	NM_022356.4	NP_071751.3:p.(Pro710=)	NC_000001.10:g.43212449G>A	(Likely) benign	1 lab	76d900dbfd
11:108121410 ATM CTTT>C	11	108121410	108121425	CTTT	C	ATM	c.1236-5_1236-3del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121423_108121425del	(Likely) benign	1 lab	76d9c8baad
13:32971148 BRCA2 T>C	13	32971148	32971148	T	C	BRCA2	c.9615T>C	NM_000059.4	NP_000050.3:p.(Ala3205=)	NC_000013.10:g.32971148T>C	(Likely) benign	1 lab	76da10ac8a
1:197404390 CRB1 G>A	1	197404390	197404390	G	A	CRB1	c.3325G>A	NM_001257965.2	NP_001244894.1:p.(Val1109Met)	NC_000001.10:g.197404390G>A	(Likely) benign	1 lab	76da23c595
19:40916265 PRX G>A	19	40916265	40916265	G	A	PRX	c.-242-1975C>T	NM_020956.2	NP_066007.1:p.?	NC_000019.9:g.40916265G>A	(Likely) benign	1 lab	7929941d62
10:69540899 MISSING Ref too long to show for this DEL>A	10	69540899	69569012	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.69540900_69569012del	VUS	1 lab	76dc10cac1
16:1004347 LMF1 T>C	16	1004347	1004347	T	C	LMF1	c.503+10A>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004347T>C	(Likely) benign	1 lab	76ddbc8e07
2:179469782 TTN C>G	2	179469782	179469782	C	G	TTN	c.54122G>C	NM_001267550.2	NP_001254479.2:p.(Gly18041Ala)	NC_000002.11:g.179469782C>G	VUS	1 lab	76df4e9e3d
15:80762543 ARNT2 C>T	15	80762543	80762543	C	T	ARNT2	c.195-16C>T	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80762543C>T	(Likely) benign	1 lab	76e5716d6e
1:55521234 PCSK9 C>A	1	55521234	55521234	C	A	PCSK9	c.800-432C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521234C>A	(Likely) benign	1 lab	76f9d03a4a
12:15267619 RERG Ref too long to show for this DEL>C	12	15267619	15301699	Ref too long to show for this DEL	C	RERG	c.62-27643_119-3269del	NM_032918.3	NP_116307.1:p.?	NC_000012.11:g.15267623_15301699del	VUS	1 lab	76fde1867d
11:63403076 ATL3 C>T	11	63403076	63403076	C	T	ATL3	c.925-14G>A	NM_001290048.2	NP_001276977.1:p.?	NC_000011.9:g.63403076C>T	(Likely) benign	1 lab	77011113da
17:2233823 TSR1 G>C	17	2233823	2233823	G	C	TSR1	c.1756C>G	NM_018128.5	NP_060598.3:p.(Pro586Ala)	NC_000017.10:g.2233823G>C	(Likely) benign	1 lab	770137ffdb
5:58726258 PDE4D C>T	5	58726258	58726258	C	T	PDE4D	c.-14G>A	NM_001349242.2	NP_001336171.1:p.?	NC_000005.9:g.58726258C>T	(Likely) benign	1 lab	7703426125
8:82589341 MISSING Ref too long to show for this DEL>T	8	82589341	83131243	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.82589343_83131243del	VUS	1 lab	7704ecbcc9
9:35713920 TLN1 G>C	9	35713920	35713920	G	C	TLN1	c.3249+30C>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35713920G>C	(Likely) benign	1 lab	7706e0904e
6:16145822 MYLIP C>T	6	16145822	16145822	C	T	MYLIP	c.1248+274C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16145822C>T	(Likely) benign	1 lab	770c89e2bf
18:45374507 SMAD2 A>G	18	45374507	45374507	A	G	SMAD2	c.997+339T>C	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45374507A>G	(Likely) benign	1 lab	770e001178
12:27711862 PPFIBP1 Ref too long to show for this DEL>C	12	27711862	27723277	Ref too long to show for this DEL	C	PPFIBP1	c.-123-19220_-123-7808del	NM_003622.4	NP_003613.4:p.?	NC_000012.11:g.27711865_27723277del	VUS	1 lab	770e3d1afa
13:38317126 MISSING Ref too long to show for this DEL>T	13	38317126	42609480	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.38317128_42609480del	(Likely) pathogenic	1 lab	77115ae194
2:21260016 APOB G>A	2	21260016	21260016	G	A	APOB	c.649C>T	NM_000384.3	NP_000375.3:p.(Pro217Ser)	NC_000002.11:g.21260016G>A	VUS	1 lab	7712061022
7:100855275 PLOD3 G>A	7	100855275	100855275	G	A	PLOD3	c.1128-44C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855275G>A	(Likely) benign	1 lab	771305a941
1:155642457 YY1AP1 C>T	1	155642457	155642457	C	T	YY1AP1	c.891G>A	NM_001198903.1	NP_001185832.1:p.(Gln297=)	NC_000001.10:g.155642457C>T	(Likely) benign	1 lab	77173b6b08
10:72629567 SGPL1 C>T	10	72629567	72629567	C	T	SGPL1	c.723C>T	NM_003901.4	NP_003892.2:p.(Ala241=)	NC_000010.10:g.72629567C>T	(Likely) benign	1 lab	7717550ca3
6:135751130 AHI1 T>C	6	135751130	135751130	T	C	AHI1	c.2382A>G	NM_001350503.2	NP_001337432.1:p.(Lys794=)	NC_000006.11:g.135751130T>C	(Likely) benign	1 lab	7718c6cf5a
19:11210881 LDLR C>G	19	11210881	11210881	C	G	LDLR	c.68-18C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210881C>G	VUS	1 lab	771c8c2646
15:72859403 ARIH1 T>A	15	72859403	72859403	T	A	ARIH1	c.955-44T>A	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72859403T>A	(Likely) benign	1 lab	771eb8b196
X:108868171 KCNE5 T>C	X	108868171	108868171	T	C	KCNE5	c.79A>G	NM_012282.4	NP_036414.1:p.(Ser27Gly)	NC_000023.10:g.108868171T>C	VUS	1 lab	771f941ea1
9:107561675 ABCA1 T>TCACACACA	9	107561675	107561717	T	TCACACACA	ABCA1	c.4943+417_4943+424dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561710_107561717dup	(Likely) benign	1 lab	7720f164ba
9:16800692 BNC2 Ref too long to show for this DEL>C	9	16800692	16861204	Ref too long to show for this DEL	C	BNC2	c.3+9441_4-62210del	NM_017637.6	NP_060107.3:p.?	NC_000009.11:g.16800694_16861204del	VUS	1 lab	77224896f7
16:56997050 CETP C>T	16	56997050	56997050	C	T	CETP	c.233+14C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997050C>T	(Likely) benign	1 lab	7726c3b40d
8:19797014 LPL C>T	8	19797014	19797014	C	T	LPL	c.63C>T	NM_000237.3	NP_000228.1:p.(Ser21=)	NC_000008.10:g.19797014C>T	(Likely) benign	1 lab	772a3c5b7c
1:235594044 TBCE C>T	1	235594044	235594044	C	T	TBCE	c.585C>T	NM_001287801.2	NP_001274730.1:p.(Ser195=)	NC_000001.10:g.235594044C>T	(Likely) benign	1 lab	772ae0b8bb
1:218609474 TGFB2 C>T	1	218609474	218609474	C	T	TGFB2	c.1001C>T	NM_001135599.4	NP_001129071.1:p.(Ala334Val)	NC_000001.10:g.218609474C>T	VUS	1 lab	772b9add2e
5:178415953 GRM6 C>T	5	178415953	178415953	C	T	GRM6	c.1337G>A	NM_000843.4	NP_000834.2:p.(Arg446Gln)	NC_000005.9:g.178415953C>T	VUS	1 lab	7735345077
7:152345762 XRCC2 A>C	7	152345762	152345762	A	C	XRCC2	c.808T>G	NM_005431.2	NP_005422.1:p.(Phe270Val)	NC_000007.13:g.152345762A>C	VUS	1 lab	7738409565
9:107582013 ABCA1 A>C	9	107582013	107582013	A	C	ABCA1	c.3104-9T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582013A>C	(Likely) benign	1 lab	7739b5aeb5
16:67977895 LCAT G>A	16	67977895	67977895	G	A	LCAT	c.110C>T	NM_000229.2	NP_000220.1:p.(Thr37Met)	NC_000016.9:g.67977895G>A	(Likely) pathogenic	1 lab	773a84d194
3:53845281 CACNA1D C>T	3	53845281	53845281	C	T	CACNA1D	c.6394C>T	NM_000720.4	NP_000711.1:p.(Arg2132Cys)	NC_000003.11:g.53845281C>T	VUS	1 lab	77408f813c
7:26236235 HNRNPA2B1 T>C	7	26236235	26236235	T	C	HNRNPA2B1	c.555A>G	NM_031243.3	NP_112533.1:p.(Arg185=)	NC_000007.13:g.26236235T>C	(Likely) benign	1 lab	7742d2f5ae
10:114911587 TCF7L2 G>A	10	114911587	114911587	G	A	TCF7L2	c.1051G>A	NM_001198525.2	NP_001185454.1:p.(Val351Ile)	NC_000010.10:g.114911587G>A	VUS	1 lab	774449189c
1:235904728 LYST G>A	1	235904728	235904728	G	A	LYST	c.8352C>T	NM_001301365.1	NP_001288294.1:p.(Ser2784=)	NC_000001.10:g.235904728G>A	(Likely) benign	1 lab	7744bef544
10:88492673 LDB3 G>A	10	88492673	88492673	G	A	LDB3	c.2139G>A	NM_001171610.2	NP_001165081.1:p.(Pro713=)	NC_000010.10:g.88492673G>A	(Likely) benign	1 lab	77453b4ad8
13:23910875 SACS A>T	13	23910875	23910875	A	T	SACS	c.7140T>A	NM_014363.6	NP_055178.3:p.(Asn2380Lys)	NC_000013.10:g.23910875A>T	VUS	1 lab	77465c04df
7:150649931 KCNH2 AG>A	7	150649931	150649934	AG	A	KCNH2	c.1138del	NM_000238.4	NP_000229.1:p.(Leu380TrpfsTer54)	NC_000007.13:g.150649934del	(Likely) pathogenic	1 lab	77479585f7
1:236900597 ACTN2 G>GTATTTATATATATATATATA	1	236900597	236900598	G	GTATTTATATATATATATATA	ACTN2	c.876+83_876+84insTATTTATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATTTATATATATATATATA	(Likely) benign	1 lab	7748d5aa14
2:1497657 TPO G>A	2	1497657	1497657	G	A	TPO	c.1852G>A	NM_000547.6	NP_000538.3:p.(Val618Met)	NC_000002.11:g.1497657G>A	(Likely) benign	1 lab	774b6b92c8
3:10035208 MISSING T>Alt too long to show for this DUP	3	10035208	10081143	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.10035209_10081143dup	VUS	1 lab	774c53ee23
X:9683031 TBL1X G>A	X	9683031	9683031	G	A	TBL1X	c.1695G>A	NM_005647.4	NP_005638.1:p.(Ala565=)	NC_000023.10:g.9683031G>A	(Likely) benign	1 lab	774ce78138
19:2905871 MISSING C>Alt too long to show for this DUP	19	2905871	2936626	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.2905872_2936626dup	VUS	1 lab	774cf7ba73
8:19809320 LPL C>T	8	19809320	19809320	C	T	LPL	c.290C>T	NM_000237.3	NP_000228.1:p.(Ala97Val)	NC_000008.10:g.19809320C>T	VUS	1 lab	79b964c0ab
7:128481234 FLNC C>T	7	128481234	128481234	C	T	FLNC	c.1824C>T	NM_001458.5	NP_001449.3:p.(Ile608=)	NC_000007.13:g.128481234C>T	(Likely) benign	1 lab	7756a9642d
11:68080277 LRP5 G>A	11	68080277	68080277	G	A	LRP5	c.91+4G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68080277G>A	(Likely) benign	1 lab	7757939d70
2:179650411 TTN C>T	2	179650411	179650411	C	T	TTN	c.2429G>A	NM_001267550.2	NP_001254479.2:p.(Arg810His)	NC_000002.11:g.179650411C>T	VUS	1 lab	77594755b4
1:5934914 NPHP4 G>A	1	5934914	5934914	G	A	NPHP4	c.3044+20C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5934914G>A	(Likely) benign	1 lab	775bea02c6
2:220285374 DES C>T	2	220285374	220285374	C	T	DES	c.893C>T	NM_001927.4	NP_001918.3:p.(Ser298Leu)	NC_000002.11:g.220285374C>T	VUS	1 lab	775fab74a0
2:220283523 DES G>A	2	220283523	220283523	G	A	DES	c.339G>A	NM_001927.4	NP_001918.3:p.(Gln113=)	NC_000002.11:g.220283523G>A	(Likely) benign	1 lab	7761f1138f
1:100681596 DBT T>C	1	100681596	100681596	T	C	DBT	c.715A>G	NM_001918.5	NP_001909.4:p.(Ile239Val)	NC_000001.10:g.100681596T>C	(Likely) benign	1 lab	77672740d5
11:47357771 MYBPC3 G>T	11	47357771	47357771	G	T	MYBPC3	c.2603-209C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357771G>T	(Likely) benign	1 lab	77683b0fb6
19:17758132 UNC13A C>T	19	17758132	17758132	C	T	UNC13A	c.1986G>A	NM_001080421.3	NP_001073890.2:p.(Ala662=)	NC_000019.9:g.17758132C>T	(Likely) benign	1 lab	776ad61c3b
8:59410853 CYP7A1 G>T	8	59410853	59410853	G	T	CYP7A1	c.256C>A	NM_000780.4	NP_000771.2:p.(His86Asn)	NC_000008.10:g.59410853G>T	(Likely) benign	1 lab	776bfd19f9
2:179613393 TTN C>A	2	179613393	179613393	C	A	TTN	c.13734G>T	NM_133379.5	NP_596870.2:p.(Gln4578His)	NC_000002.11:g.179613393C>A	(Likely) benign	1 lab	776fbfd06f
16:46746686 MYLK3 T>C	16	46746686	46746686	T	C	MYLK3	c.1988A>G	NM_182493.3	NP_872299.2:p.(Tyr663Cys)	NC_000016.9:g.46746686T>C	VUS	1 lab	7772325dea
10:67829250 CTNNA3 A>G	10	67829250	67829250	A	G	CTNNA3	c.1978-3T>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67829250A>G	(Likely) benign	1 lab	777535ac68
13:36903574 SPART TTC>T	13	36903574	36903577	TTC	T	SPART	c.1087_1088del	NM_015087.5	NP_055902.1:p.(Glu363SerfsTer5)	NC_000013.10:g.36903576_36903577del	(Likely) pathogenic	1 lab	777ab979a6
11:76909678 MYO7A C>G	11	76909678	76909678	C	G	MYO7A	c.4568+12C>G	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76909678C>G	(Likely) benign	1 lab	777be9bf70
19:38964283 RYR1 A>G	19	38964283	38964283	A	G	RYR1	c.4032A>G	NM_000540.3	NP_000531.2:p.(Ala1344=)	NC_000019.9:g.38964283A>G	(Likely) benign	1 lab	777c1d5a91
11:44146505 EXT2 C>CAGGT	11	44146505	44146509	C	CAGGT	EXT2	c.911_914dup	NM_001178083.3	NP_001171554.1:p.(Phe306GlyfsTer50)	NC_000011.9:g.44146506_44146509dup	(Likely) pathogenic	1 lab	777d747983
X:149102230 MISSING G>Alt too long to show for this DUP	X	149102230	149271654	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.149102233_149271654dup	VUS	1 lab	79ba8126d0
13:32900218 BRCA2 T>G	13	32900218	32900218	T	G	BRCA2	c.426-20T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900218T>G	(Likely) benign	1 lab	77824dceaf
15:58840558 LIPC G>A	15	58840558	58840558	G	A	LIPC	c.838G>A	NM_000236.3	NP_000227.2:p.(Glu280Lys)	NC_000015.9:g.58840558G>A	VUS	1 lab	778497526a
12:122261170 SETD1B C>G	12	122261170	122261170	C	G	SETD1B	c.4685C>G	NM_001353345.2	NP_001340274.1:p.(Pro1562Arg)	NC_000012.11:g.122261170C>G	(Likely) benign	1 lab	7786629211
17:41243811 BRCA1 G>T	17	41243811	41243811	G	T	BRCA1	c.3737C>A	NM_007294.4	NP_009225.1:p.(Thr1246Asn)	NC_000017.10:g.41243811G>T	(Likely) benign	1 lab	7786d5eef0
20:62641620 PRPF6 T>C	20	62641620	62641620	T	C	PRPF6	c.1254T>C	NM_012469.4	NP_036601.2:p.(Asp418=)	NC_000020.10:g.62641620T>C	(Likely) benign	1 lab	778942ef81
7:117432284 CTTNBP2 C>T	7	117432284	117432284	C	T	CTTNBP2	c.912G>A	NM_001363349.1	NP_001350278.1:p.(Leu304=)	NC_000007.13:g.117432284C>T	(Likely) benign	1 lab	778a1abf89
X:32482830 DMD C>G	X	32482830	32482830	C	G	DMD	c.2794-14G>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32482830C>G	(Likely) benign	1 lab	778adc060d
15:48826755 FBN1 T>A	15	48826755	48826755	T	A	FBN1	c.737-353A>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826755T>A	(Likely) benign	1 lab	778bf0def6
9:27548433 C9orf72 GAAAAAAAAAA>G	9	27548433	27548459	GAAAAAAAAAA	G	C9orf72	c.1260-23_1260-14del	NM_001256054.3	NP_001242983.1:p.?	NC_000009.11:g.27548450_27548459del	(Likely) benign	1 lab	778edc70b6
16:46746578 MYLK3 C>T	16	46746578	46746578	C	T	MYLK3	c.2096G>A	NM_182493.3	NP_872299.2:p.(Gly699Glu)	NC_000016.9:g.46746578C>T	VUS	1 lab	778f25a292
17:40491273 STAT3 C>CA	17	40491273	40491290	C	CA	STAT3	c.468+58dup	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40491290dup	(Likely) benign	1 lab	778f576345
15:73614944 HCN4 G>T	15	73614944	73614944	G	T	HCN4	c.3490C>A	NM_005477.3	NP_005468.1:p.(Pro1164Thr)	NC_000015.9:g.73614944G>T	VUS	1 lab	778fa836d6
5:90086966 ADGRV1 C>T	5	90086966	90086966	C	T	ADGRV1	c.14320C>T	NM_032119.4	NP_115495.3:p.(Leu4774Phe)	NC_000005.9:g.90086966C>T	(Likely) benign	1 lab	7790a4514c
4:169167672 DDX60 T>Alt too long to show for this DUP	4	169167672	169195333	T	Alt too long to show for this DUP	DDX60	c.2305-99_4060dup	NM_017631.6	NP_060101.3:p.?	NC_000004.11:g.169167673_169195333dup	VUS	1 lab	7791e7368f
4:190947570 FRG2 C>G	4	190947570	190947570	C	G	FRG2	c.303G>C	NM_001286820.2	NP_001273749.1:p.(Met101Ile)	NC_000004.11:g.190947570C>G	(Likely) benign	1 lab	7794d6ed97
5:228343 SDHA T>C	5	228343	228343	T	C	SDHA	c.665T>C	NM_004168.4	NP_004159.2:p.(Leu222Ser)	NC_000005.9:g.228343T>C	VUS	1 lab	77962aa1b0
12:21392104 SLCO1B1 A>G	12	21392104	21392104	A	G	SLCO1B1	c.2057A>G	NM_006446.5	NP_006437.3:p.(Asp686Gly)	NC_000012.11:g.21392104A>G	(Likely) benign	1 lab	77995d99fe
12:25644012 MISSING Ref too long to show for this DEL>C	12	25644012	28223420	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.25644016_28223420del	(Likely) pathogenic	1 lab	779af13695
18:29126091 DSG2 T>C	18	29126091	29126091	T	C	DSG2	c.2742T>C	NM_001943.5	NP_001934.2:p.(Ser914=)	NC_000018.9:g.29126091T>C	(Likely) benign	1 lab	779bb425eb
2:198267361 SF3B1 T>C	2	198267361	198267361	T	C	SF3B1	c.1996A>G	NM_012433.4	NP_036565.2:p.(Lys666Glu)	NC_000002.11:g.198267361T>C	VUS	1 lab	779bf6e913
7:44184868 GCK C>A	7	44184868	44184868	C	A	GCK	c.1265G>T	NM_000162.5	NP_000153.1:p.(Arg422Leu)	NC_000007.13:g.44184868C>A	VUS	1 lab	779c66d635
7:154002224 DPP6 G>A	7	154002224	154002224	G	A	DPP6	c.244-141075G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154002224G>A	(Likely) benign	1 lab	779d4e7397
12:21392085 SLCO1B1 G>T	12	21392085	21392085	G	T	SLCO1B1	c.2038G>T	NM_006446.5	NP_006437.3:p.(Val680Phe)	NC_000012.11:g.21392085G>T	(Likely) benign	1 lab	77a4be3e3d
X:44950106 KDM6A TTAAG>T	X	44950106	44950115	TTAAG	T	KDM6A	c.4034+3_4034+6del	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44950112_44950115del	(Likely) pathogenic	1 lab	77a4f080e4
19:48801252 ODAD1 C>T	19	48801252	48801252	C	T	ODAD1	c.1391+5G>A	NM_144577.4	NP_653178.3:p.?	NC_000019.9:g.48801252C>T	(Likely) pathogenic	1 lab	77a6ff7465
11:5444044 MISSING Ref too long to show for this DEL>C	11	5444044	5560444	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.5444045_5560444del	VUS	1 lab	77a8949941
7:150644916 KCNH2 C>T	7	150644916	150644916	C	T	KCNH2	c.2743G>A	NM_000238.4	NP_000229.1:p.(Ala915Thr)	NC_000007.13:g.150644916C>T	VUS	1 lab	77b13b33ee
19:804088 PTBP1 C>G	19	804088	804088	C	G	PTBP1	c.168C>G	NM_002819.5	NP_002810.1:p.(Val56=)	NC_000019.9:g.804088C>G	(Likely) benign	1 lab	77b38c974d
5:127595816 FBN2 G>T	5	127595816	127595816	G	T	FBN2	c.8365-295C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127595816G>T	(Likely) benign	1 lab	77b479654e
9:2719088 KCNV2 G>A	9	2719088	2719088	G	A	KCNV2	c.1349G>A	NM_133497.4	NP_598004.1:p.(Trp450Ter)	NC_000009.11:g.2719088G>A	(Likely) pathogenic	1 lab	77b5dc9ea0
Y:9670175 MISSING T>Alt too long to show for this DUP	Y	9670175	9917697	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.9670177_9917697dup	(Likely) pathogenic	1 lab	77b6f312c8
X:23847713 MISSING A>Alt too long to show for this DUP	X	23847713	23865279	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.23847716_23865279dup	VUS	1 lab	77b80688b5
2:179422665 TTN C>G	2	179422665	179422665	C	G	TTN	c.87416G>C	NM_001267550.2	NP_001254479.2:p.(Gly29139Ala)	NC_000002.11:g.179422665C>G	VUS	1 lab	77b8c63605
1:236900597 ACTN2 G>GTATATATATATATATATATATATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATATATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATATATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	77bd2ed35d
4:90741382 SNCA Ref too long to show for this DEL>A	4	90741382	90755225	Ref too long to show for this DEL	A	SNCA	c.121+1473_306+2014del	NM_000345.4	NP_000336.1:p.?	NC_000004.11:g.90741383_90755225del	VUS	1 lab	77bda6bd21
16:46746652 MYLK3 G>C	16	46746652	46746652	G	C	MYLK3	c.2022C>G	NM_182493.3	NP_872299.2:p.(Gly674=)	NC_000016.9:g.46746652G>C	(Likely) benign	1 lab	77c04a066c
21:47852011 PCNT C>G	21	47852011	47852011	C	G	PCNT	c.8633C>G	NM_006031.6	NP_006022.3:p.(Ser2878Ter)	NC_000021.8:g.47852011C>G	VUS	1 lab	77c14586aa
2:44104780 ABCG8 T>C	2	44104780	44104780	T	C	ABCG8	c.1837T>C	NM_022437.3	NP_071882.1:p.(Tyr613His)	NC_000002.11:g.44104780T>C	(Likely) benign	1 lab	77c18d6612
11:1955546 TNNT3 A>G	11	1955546	1955546	A	G	TNNT3	c.343-16A>G	NM_001297646.2	NP_001284575.1:p.?	NC_000011.9:g.1955546A>G	(Likely) benign	1 lab	77c2fc5d7a
6:116754530 DSE C>T	6	116754530	116754530	C	T	DSE	c.935C>T	NM_013352.4	NP_037484.1:p.(Ala312Val)	NC_000006.11:g.116754530C>T	VUS	1 lab	77c6d15042
2:219677153 CYP27A1 G>A	2	219677153	219677153	G	A	CYP27A1	c.646+9G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677153G>A	(Likely) benign	1 lab	77ccdb1048
9:2717988 KCNV2 C>T	9	2717988	2717988	C	T	KCNV2	c.249C>T	NM_133497.4	NP_598004.1:p.(Thr83=)	NC_000009.11:g.2717988C>T	(Likely) benign	1 lab	77cd67a0da
X:100507724 DRP2 G>A	X	100507724	100507724	G	A	DRP2	c.1977+19G>A	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100507724G>A	(Likely) benign	1 lab	77cddb4370
1:67279866 DNAI4 G>GA	1	67279866	67279876	G	GA	DNAI4	c.2497-4dup	NM_024763.5	NP_079039.4:p.?	NC_000001.10:g.67279876dup	(Likely) benign	1 lab	77ce4ac8e8
8:68092174 CSPP1 A>G	8	68092174	68092174	A	G	CSPP1	c.2170+13A>G	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68092174A>G	(Likely) benign	1 lab	77d16f57bd
16:88809982 MISSING T>Alt too long to show for this DUP	16	88809982	88947602	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.88809983_88947602dup	VUS	1 lab	77d39772ff
10:92675649 ANKRD1 GA>G	10	92675649	92675653	GA	G	ANKRD1	c.652-13del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675653del	(Likely) benign	1 lab	77d43cc9e8
2:21229029 APOB A>C	2	21229029	21229029	A	C	APOB	c.10711T>G	NM_000384.3	NP_000375.3:p.(Leu3571Val)	NC_000002.11:g.21229029A>C	VUS	1 lab	77d708a6d2
21:39817556 ERG A>T	21	39817556	39817556	A	T	ERG	c.40-12T>A	NM_001243428.1	NP_001230357.1:p.?	NC_000021.8:g.39817556A>T	VUS	1 lab	77d9d30cba
2:179595796 TTN C>A	2	179595796	179595796	C	A	TTN	c.17596G>T	NM_001267550.2	NP_001254479.2:p.(Gly5866Cys)	NC_000002.11:g.179595796C>A	VUS	1 lab	77dcf43650
12:974454 WNK1 A>C	12	974454	974454	A	C	WNK1	c.2318A>C	NM_213655.5	NP_998820.3:p.(Glu773Ala)	NC_000012.11:g.974454A>C	VUS	1 lab	781d68314c
15:44175972 FRMD5 A>T	15	44175972	44175972	A	T	FRMD5	c.1064T>A	NM_032892.5	NP_116281.2:p.(Ile355Lys)	NC_000015.9:g.44175972A>T	(Likely) pathogenic	1 lab	77de25eac9
10:69948901 MYPN C>T	10	69948901	69948901	C	T	MYPN	c.2925+18C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69948901C>T	VUS	1 lab	77dfc35ddb
6:7567507 DSP T>C	6	7567507	7567507	T	C	DSP	c.1045-80T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7567507T>C	(Likely) benign	1 lab	77e0c3c3e8
1:161279672 MPZ G>A	1	161279672	161279672	G	A	MPZ	c.24C>T	NM_000530.8	NP_000521.2:p.(Ser8=)	NC_000001.10:g.161279672G>A	(Likely) benign	1 lab	77e11ec4de
7:128487158 FLNC G>C	7	128487158	128487158	G	C	FLNC	c.4288+199G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487158G>C	(Likely) benign	1 lab	77e27d4c10
6:100841697 SIM1 G>T	6	100841697	100841697	G	T	SIM1	c.1236C>A	NM_005068.3	NP_005059.2:p.(Thr412=)	NC_000006.11:g.100841697G>T	(Likely) benign	1 lab	77e6fd3155
6:100841491 SIM1 G>T	6	100841491	100841491	G	T	SIM1	c.1442C>A	NM_005068.3	NP_005059.2:p.(Thr481Lys)	NC_000006.11:g.100841491G>T	VUS	1 lab	77e82e2496
2:210704163 UNC80 A>G	2	210704163	210704163	A	G	UNC80	c.3256+3A>G	NM_032504.2	NP_115893.1:p.?	NC_000002.11:g.210704163A>G	VUS	1 lab	77e87be895
3:15514993 MISSING Ref too long to show for this DEL>A	3	15514993	15577237	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.15514996_15577237del	VUS	1 lab	77e8a25450
16:1570763 IFT140 G>A	16	1570763	1570763	G	A	IFT140	c.3500C>T	NM_014714.4	NP_055529.2:p.(Thr1167Ile)	NC_000016.9:g.1570763G>A	VUS	1 lab	77ed8756dc
16:9892279 GRIN2A G>T	16	9892279	9892279	G	T	GRIN2A	c.2211C>A	NM_001134407.3	NP_001127879.1:p.(Tyr737Ter)	NC_000016.9:g.9892279G>T	(Likely) pathogenic	1 lab	77ef49cc2b
8:19809440 LPL G>T	8	19809440	19809440	G	T	LPL	c.410G>T	NM_000237.3	NP_000228.1:p.(Arg137Leu)	NC_000008.10:g.19809440G>T	VUS	1 lab	77f0eb3c89
X:49030776 PLP2 AGT>A	X	49030776	49030792	AGT	A	PLP2	c.436+19_436+20del	NM_002668.3	NP_002659.1:p.?	NC_000023.10:g.49030791_49030792del	(Likely) benign	1 lab	77f4acbb35
2:64160864 VPS54 G>C	2	64160864	64160864	G	C	VPS54	c.1682C>G	NM_016516.3	NP_057600.2:p.(Ser561Cys)	NC_000002.11:g.64160864G>C	(Likely) benign	1 lab	77fa2c31fc
17:37822125 TCAP G>A	17	37822125	37822125	G	A	TCAP	c.267G>A	NM_003673.4	NP_003664.1:p.(Leu89=)	NC_000017.10:g.37822125G>A	(Likely) benign	1 lab	77fea79d2c
6:32011812 TNXB G>A	6	32011812	32011812	G	A	TNXB	c.11352C>T	NM_019105.8	NP_061978.6:p.(Phe3784=)	NC_000006.11:g.32011812G>A	(Likely) benign	1 lab	7802d30c20
1:216348677 USH2A G>A	1	216348677	216348677	G	A	USH2A	c.4544C>T	NM_206933.4	NP_996816.3:p.(Thr1515Met)	NC_000001.10:g.216348677G>A	(Likely) benign	1 lab	780525089d
2:21229067 APOB C>T	2	21229067	21229067	C	T	APOB	c.10673G>A	NM_000384.3	NP_000375.3:p.(Arg3558His)	NC_000002.11:g.21229067C>T	VUS	1 lab	780d957570
5:178418935 GRM6 C>T	5	178418935	178418935	C	T	GRM6	c.654G>A	NM_000843.4	NP_000834.2:p.(Thr218=)	NC_000005.9:g.178418935C>T	(Likely) benign	1 lab	780e3e78ca
17:68172104 KCNJ2 G>A	17	68172104	68172104	G	A	KCNJ2	c.924G>A	NM_000891.3	NP_000882.1:p.(Thr308=)	NC_000017.10:g.68172104G>A	(Likely) benign	1 lab	7811ae9306
3:193354973 OPA1 A>C	3	193354973	193354973	A	C	OPA1	c.949-11A>C	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193354973A>C	(Likely) benign	1 lab	7813575285
7:91730322 AKAP9 C>T	7	91730322	91730322	C	T	AKAP9	c.11049C>T	NM_005751.5	NP_005742.4:p.(Asp3683=)	NC_000007.13:g.91730322C>T	(Likely) benign	1 lab	7814c87ec7
15:48797303 FBN1 G>A	15	48797303	48797303	G	A	FBN1	c.1879C>T	NM_000138.5	NP_000129.3:p.(Arg627Cys)	NC_000015.9:g.48797303G>A	(Likely) pathogenic	1 lab	781688f24d
2:179394752 TTN A>T	2	179394752	179394752	A	T	TTN	c.106466T>A	NM_001267550.2	NP_001254479.2:p.(Leu35489His)	NC_000002.11:g.179394752A>T	VUS	1 lab	781a3860d1
12:49375104 WNT1 G>C	12	49375104	49375104	G	C	WNT1	c.794G>C	NM_005430.4	NP_005421.1:p.(Arg265Pro)	NC_000012.11:g.49375104G>C	VUS	1 lab	781d6e5c50
14:50586974 SOS2 G>A	14	50586974	50586974	G	A	SOS2	c.3489+19C>T	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50586974G>A	(Likely) benign	1 lab	781d80bf57
17:39919280 JUP G>A	17	39919280	39919280	G	A	JUP	c.1452C>T	NM_001352773.2	NP_001339702.1:p.(Ala484=)	NC_000017.10:g.39919280G>A	(Likely) benign	1 lab	781fafb061
2:21257703 APOB G>A	2	21257703	21257703	G	A	APOB	c.889C>T	NM_000384.3	NP_000375.3:p.(Arg297Cys)	NC_000002.11:g.21257703G>A	(Likely) benign	1 lab	781ff2da5f
1:6505824 ESPN A>C	1	6505824	6505824	A	C	ESPN	c.1293A>C	NM_031475.3	NP_113663.2:p.(Pro431=)	NC_000001.10:g.6505824A>C	(Likely) benign	1 lab	7825bafb63
11:47361671 MYBPC3 T>TAC	11	47361671	47361685	T	TAC	MYBPC3	c.1928-332_1928-331dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361684_47361685dup	(Likely) benign	1 lab	782650647d
20:2644201 IDH3B G>A	20	2644201	2644201	G	A	IDH3B	c.228C>T	NM_006899.5	NP_008830.2:p.(Val76=)	NC_000020.10:g.2644201G>A	(Likely) benign	1 lab	7826717c45
1:218577129 TGFB2 T>A	1	218577129	218577129	T	A	TGFB2	c.347-1382T>A	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218577129T>A	(Likely) benign	1 lab	78276c9655
4:187429077 MISSING Ref too long to show for this DEL>A	4	187429077	187454470	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.187429078_187454470del	VUS	1 lab	78288d5352
3:11059547 SLC6A1 A>G	3	11059547	11059547	A	G	SLC6A1	c.257A>G	NM_003042.4	NP_003033.3:p.(Tyr86Cys)	NC_000003.11:g.11059547A>G	(Likely) pathogenic	1 lab	7829d22617
2:21231798 APOB G>A	2	21231798	21231798	G	A	APOB	c.7942C>T	NM_000384.3	NP_000375.3:p.(Pro2648Ser)	NC_000002.11:g.21231798G>A	VUS	1 lab	782c9a25b8
16:1004635 LMF1 G>A	16	1004635	1004635	G	A	LMF1	c.225C>T	NM_022773.4	NP_073610.2:p.(Asn75=)	NC_000016.9:g.1004635G>A	(Likely) benign	1 lab	782d4bb0de
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	782dad1a6f
3:53845295 CACNA1D C>T	3	53845295	53845295	C	T	CACNA1D	c.6408C>T	NM_000720.4	NP_000711.1:p.(Asn2136=)	NC_000003.11:g.53845295C>T	(Likely) benign	1 lab	782e47c538
9:107564077 ABCA1 G>A	9	107564077	107564077	G	A	ABCA1	c.4698+258C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564077G>A	(Likely) benign	1 lab	7833807fc9
2:189916844 COL5A2 C>T	2	189916844	189916844	C	T	COL5A2	c.2769+54G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189916844C>T	(Likely) benign	1 lab	7833e323e2
3:37067095 MLH1 ATATATTT>A	3	37067095	37067103	ATATATTT	A	MLH1	c.1039-31_1039-25del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067103del	(Likely) benign	1 lab	7833ea7058
15:75189557 MPI G>A	15	75189557	75189557	G	A	MPI	c.1050G>A	NM_002435.3	NP_002426.1:p.(Thr350=)	NC_000015.9:g.75189557G>A	(Likely) benign	1 lab	783456ab1e
5:82836706 VCAN C>A	5	82836706	82836706	C	A	VCAN	c.7884C>A	NM_004385.5	NP_004376.2:p.(Asn2628Lys)	NC_000005.9:g.82836706C>A	VUS	1 lab	7835465d3c
11:121437639 SORL1 T>C	11	121437639	121437639	T	C	SORL1	c.3050-10T>C	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121437639T>C	(Likely) benign	1 lab	78360ff3a2
19:6495372 TUBB4A G>A	19	6495372	6495372	G	A	TUBB4A	c.1138C>T	NM_006087.4	NP_006078.2:p.(Arg380Cys)	NC_000019.9:g.6495372G>A	VUS	1 lab	783768b9c2
2:44049979 ABCG5 A>C	2	44049979	44049979	A	C	ABCG5	c.1420T>G	NM_022436.3	NP_071881.1:p.(Phe474Val)	NC_000002.11:g.44049979A>C	VUS	1 lab	78384e1de7
8:68107747 CSPP1 G>A	8	68107747	68107747	G	A	CSPP1	c.3519G>A	NM_001363131.2	NP_001350060.1:p.(Glu1173=)	NC_000008.10:g.68107747G>A	(Likely) benign	1 lab	783970ce45
18:47108848 LIPG GA>G	18	47108848	47108851	GA	G	LIPG	c.1156del	NM_006033.4	NP_006024.1:p.(Ile386Ter)	NC_000018.9:g.47108851del	VUS	1 lab	783a8d1c30
11:93490162 MISSING Ref too long to show for this DEL>T	11	93490162	93501185	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.93490165_93501185del	VUS	1 lab	783dbc6d6b
11:76890902 MYO7A G>A	11	76890902	76890902	G	A	MYO7A	c.2489G>A	NM_000260.4	NP_000251.3:p.(Arg830His)	NC_000011.9:g.76890902G>A	VUS	1 lab	783de6630b
X:39933342 BCOR T>C	X	39933342	39933342	T	C	BCOR	c.1257A>G	NM_001123385.2	NP_001116857.1:p.(Lys419=)	NC_000023.10:g.39933342T>C	(Likely) benign	1 lab	78420d9357
2:96955011 SNRNP200 C>T	2	96955011	96955011	C	T	SNRNP200	c.3047G>A	NM_014014.5	NP_054733.2:p.(Arg1016Lys)	NC_000002.11:g.96955011C>T	VUS	1 lab	7842fa7cb8
20:3869931 PANK2 G>A	20	3869931	3869931	G	A	PANK2	c.184G>A	NM_153638.4	NP_705902.2:p.(Glu62Lys)	NC_000020.10:g.3869931G>A	VUS	1 lab	784a3c29aa
17:36925983 PIP4K2B G>C	17	36925983	36925983	G	C	PIP4K2B	c.1212C>G	NM_003559.5	NP_003550.1:p.(Ser404=)	NC_000017.10:g.36925983G>C	(Likely) benign	1 lab	784fbb2cdd
18:25583137 CDH2 G>C	18	25583137	25583137	G	C	CDH2	c.848-4C>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25583137G>C	(Likely) benign	1 lab	78511305c1
17:78343659 RNF213 G>T	17	78343659	78343659	G	T	RNF213	c.12417G>T	NM_001256071.3	NP_001243000.2:p.(Leu4139Phe)	NC_000017.10:g.78343659G>T	VUS	1 lab	78515574c4
17:79503566 FSCN2 C>T	17	79503566	79503566	C	T	FSCN2	c.1106-10C>T	NM_001077182.3	NP_001070650.1:p.?	NC_000017.10:g.79503566C>T	(Likely) benign	1 lab	7851af8124
13:32972803 BRCA2 C>T	13	32972803	32972803	C	T	BRCA2	c.10153C>T	NM_000059.4	NP_000050.3:p.(Arg3385Cys)	NC_000013.10:g.32972803C>T	(Likely) benign	1 lab	785657232b
1:235993700 LYST G>C	1	235993700	235993700	G	C	LYST	c.18C>G	NM_001301365.1	NP_001288294.1:p.(Asn6Lys)	NC_000001.10:g.235993700G>C	VUS	1 lab	785c8ebdf8
8:10465086 RP1L1 T>C	8	10465086	10465086	T	C	RP1L1	c.6522A>G	NM_178857.6	NP_849188.4:p.(Gln2174=)	NC_000008.10:g.10465086T>C	(Likely) benign	1 lab	786185f11c
8:145741426 RECQL4 C>T	8	145741426	145741426	C	T	RECQL4	c.1077G>A	NM_004260.4	NP_004251.4:p.(Lys359=)	NC_000008.10:g.145741426C>T	(Likely) benign	1 lab	7862e44a21
4:338186 ZNF141 G>T	4	338186	338186	G	T	ZNF141	c.193G>T	NM_003441.4	NP_003432.1:p.(Val65Leu)	NC_000004.11:g.338186G>T	(Likely) benign	1 lab	786497f600
2:21224725 APOB C>T	2	21224725	21224725	C	T	APOB	c.13569G>A	NM_000384.3	NP_000375.3:p.(Leu4523=)	NC_000002.11:g.21224725C>T	(Likely) benign	1 lab	786606cf7d
10:90986679 LIPA C>A	10	90986679	90986679	C	A	LIPA	c.511G>T	NM_000235.4	NP_000226.2:p.(Val171Leu)	NC_000010.10:g.90986679C>A	VUS	1 lab	7867533efa
X:69497577 ARR3 C>T	X	69497577	69497577	C	T	ARR3	c.621C>T	NM_004312.3	NP_004303.2:p.(His207=)	NC_000023.10:g.69497577C>T	(Likely) benign	1 lab	786a2ac4bd
1:6533415 PLEKHG5 C>T	1	6533415	6533415	C	T	PLEKHG5	c.691G>A	NM_198681.4	NP_941374.3:p.(Gly231Ser)	NC_000001.10:g.6533415C>T	(Likely) benign	1 lab	786c98a1ed
11:6651873 DCHS1 G>A	11	6651873	6651873	G	A	DCHS1	c.4152C>T	NM_003737.4	NP_003728.1:p.(Ala1384=)	NC_000011.9:g.6651873G>A	(Likely) benign	1 lab	7871a1d316
3:195279883 MISSING T>Alt too long to show for this DUP	3	195279883	195344941	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.195279885_195344941dup	VUS	1 lab	7873b09a1c
1:66075647 LEPR T>C	1	66075647	66075647	T	C	LEPR	c.1770T>C	NM_002303.6	NP_002294.2:p.(Asp590=)	NC_000001.10:g.66075647T>C	(Likely) benign	1 lab	787438ba0e
19:45451947 APOC2 T>C	19	45451947	45451947	T	C	APOC2	c.56-11T>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451947T>C	VUS	1 lab	7874479835
4:114244926 ANK2 C>A	4	114244926	114244926	C	A	ANK2	c.2849C>A	NM_001127493.3	NP_001120965.1:p.(Pro950Gln)	NC_000004.11:g.114244926C>A	(Likely) benign	1 lab	78781aa3b0
9:79959202 VPS13A G>GT	9	79959202	79959211	G	GT	VPS13A	c.7155+14dup	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79959211dup	(Likely) benign	1 lab	787870fc4b
11:1268340 MUC5B A>T	11	1268340	1268340	A	T	MUC5B	c.10230A>T	NM_002458.3	NP_002449.2:p.(Pro3410=)	NC_000011.9:g.1268340A>T	(Likely) benign	1 lab	7879828518
21:35821533 KCNE1 G>T	21	35821533	35821533	G	T	KCNE1	c.*10C>A	NM_001127670.4	NP_001121142.1:p.?	NC_000021.8:g.35821533G>T	(Likely) benign	1 lab	787aa2d0f4
16:46781877 MYLK3 C>T	16	46781877	46781877	C	T	MYLK3	c.229G>A	NM_182493.3	NP_872299.2:p.(Gly77Arg)	NC_000016.9:g.46781877C>T	VUS	1 lab	787b0ab79a
2:220505181 SLC4A3 C>T	2	220505181	220505181	C	T	SLC4A3	c.3388C>T	NM_201574.3	NP_963868.3:p.(Arg1130Cys)	NC_000002.11:g.220505181C>T	VUS	1 lab	787fb6a143
8:10468944 RP1L1 C>A	8	10468944	10468944	C	A	RP1L1	c.2664G>T	NM_178857.6	NP_849188.4:p.(Pro888=)	NC_000008.10:g.10468944C>A	(Likely) benign	1 lab	7882ac656b
6:44272836 AARS2 C>G	6	44272836	44272836	C	G	AARS2	c.1534G>C	NM_020745.4	NP_065796.2:p.(Asp512His)	NC_000006.11:g.44272836C>G	VUS	1 lab	7884ee67d6
6:16145329 MYLIP C>T	6	16145329	16145329	C	T	MYLIP	c.1029C>T	NM_013262.4	NP_037394.2:p.(Asn343=)	NC_000006.11:g.16145329C>T	(Likely) benign	1 lab	788613404b
1:39951412 MACF1 C>T	1	39951412	39951412	C	T	MACF1	c.16239C>T	NM_012090.5	NP_036222.3:p.(Thr5413=)	NC_000001.10:g.39951412C>T	(Likely) benign	1 lab	788ebe575f
3:52426600 DNAH1 G>A	3	52426600	52426600	G	A	DNAH1	c.10173G>A	NM_015512.5	NP_056327.4:p.(Glu3391=)	NC_000003.11:g.52426600G>A	(Likely) benign	1 lab	7891ae6dcc
2:21241505 APOB A>G	2	21241505	21241505	A	G	APOB	c.3121+359T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241505A>G	(Likely) benign	1 lab	7892f24bcc
17:45232068 CDC27 A>G	17	45232068	45232068	A	G	CDC27	c.927T>C	NM_001114091.4	NP_001107563.1:p.(Asp309=)	NC_000017.10:g.45232068A>G	(Likely) benign	1 lab	7895e57854
2:179411719 TTN G>A	2	179411719	179411719	G	A	TTN	c.94522+11C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179411719G>A	(Likely) benign	1 lab	7896a0d111
2:44101010 ABCG8 C>T	2	44101010	44101010	C	T	ABCG8	c.1296C>T	NM_022437.3	NP_071882.1:p.(Gly432=)	NC_000002.11:g.44101010C>T	(Likely) benign	1 lab	78aeee898c
1:3350226 PRDM16 T>TCCCCTCCCCGCCAGGCATATGCAATGATGCTGTCCCTTTCCGAAGACACTCCTCTCCACAC	1	3350226	3350295	T	TCCCCTCCCCGCCAGGCATATGCAATGATGCTGTCCCTTTCCGAAGACACTCCTCTCCACAC	PRDM16	c.3697-6_3751dup	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350235_3350295dup	VUS	1 lab	7898dce362
10:71048519 HK1 G>A	10	71048519	71048519	G	A	HK1	c.20G>A	NM_001322365.2	NP_001309294.1:p.(Arg7Gln)	NC_000010.10:g.71048519G>A	VUS	1 lab	789b200caa
X:9659768 TBL1X G>C	X	9659768	9659768	G	C	TBL1X	c.749+17G>C	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9659768G>C	(Likely) benign	1 lab	789b41e9ca
1:63069820 ANGPTL3 A>G	1	63069820	63069820	A	G	ANGPTL3	c.1112A>G	NM_014495.4	NP_055310.1:p.(Asn371Ser)	NC_000001.10:g.63069820A>G	VUS	1 lab	789ca611e6
8:11666218 FDFT1 G>GTCCCACTCCCAC	8	11666218	11666257	G	GTCCCACTCCCAC	FDFT1	c.220_231dup	NM_001287750.2	NP_001274679.1:p.(His74_Ser77dup)	NC_000008.10:g.11666246_11666257dup	(Likely) benign	1 lab	789dbffcc3
13:32906543 BRCA2 TTA>T	13	32906543	32906546	TTA	T	BRCA2	c.930_931del	NM_000059.4	NP_000050.3:p.(Cys311PhefsTer3)	NC_000013.10:g.32906545_32906546del	(Likely) pathogenic	1 lab	789ec6b167
19:36642569 COX7A1 A>C	19	36642569	36642569	A	C	COX7A1	c.102+2T>G	NM_001864.4	NP_001855.1:p.?	NC_000019.9:g.36642569A>C	(Likely) benign	1 lab	78a1a83f60
12:30802065 IPO8 T>C	12	30802065	30802065	T	C	IPO8	c.2268+6A>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30802065T>C	(Likely) benign	1 lab	78a4c42147
14:105177987 INF2 G>A	14	105177987	105177987	G	A	INF2	c.2440G>A	NM_001031714.4	NP_001026884.3:p.(Asp814Asn)	NC_000014.8:g.105177987G>A	VUS	1 lab	78a6ddc201
10:90698160 ACTA2 A>C	10	90698160	90698160	A	C	ACTA2	c.809-161T>G	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90698160A>C	(Likely) benign	1 lab	78a9145249
15:75938235 MISSING Ref too long to show for this DEL>C	15	75938235	76522057	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.75938236_76522057del	(Likely) pathogenic	1 lab	78aac548e1
9:117266848 WHRN C>T	9	117266848	117266848	C	T	WHRN	c.234G>A	NM_001173425.2	NP_001166896.1:p.(Leu78=)	NC_000009.11:g.117266848C>T	(Likely) benign	1 lab	78abc2bdaa
21:44376015 MISSING Ref too long to show for this DEL>G	21	44376015	44409916	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.44376016_44409916del	VUS	1 lab	78b0f549a2
2:179453593 TTN T>A	2	179453593	179453593	T	A	TTN	c.62859A>T	NM_001267550.2	NP_001254479.2:p.(Lys20953Asn)	NC_000002.11:g.179453593T>A	VUS	1 lab	78b1a573ea
1:63066877 ANGPTL3 T>G	1	63066877	63066877	T	G	ANGPTL3	c.721+10T>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63066877T>G	(Likely) benign	1 lab	78b3c30c7d
15:48756144 FBN1 T>C	15	48756144	48756144	T	C	FBN1	c.5017A>G	NM_000138.5	NP_000129.3:p.(Ile1673Val)	NC_000015.9:g.48756144T>C	VUS	1 lab	78b439b342
2:21230885 APOB C>A	2	21230885	21230885	C	A	APOB	c.8855G>T	NM_000384.3	NP_000375.3:p.(Gly2952Val)	NC_000002.11:g.21230885C>A	VUS	1 lab	78b48d9da8
17:75398417 SEPTIN9 A>C	17	75398417	75398417	A	C	SEPTIN9	c.299A>C	NM_006640.5	NP_006631.2:p.(Gln100Pro)	NC_000017.10:g.75398417A>C	VUS	1 lab	78b4e80b88
2:179454097 TTN G>GT	2	179454097	179454098	G	GT	TTN	c.62354dup	NM_001267550.2	NP_001254479.2:p.(Asp20785GlufsTer4)	NC_000002.11:g.179454098dup	(Likely) pathogenic	1 lab	78b789f268
3:38835323 SCN10A C>T	3	38835323	38835323	C	T	SCN10A	c.179G>A	NM_006514.4	NP_006505.4:p.(Cys60Tyr)	NC_000003.11:g.38835323C>T	(Likely) benign	1 lab	78bc49b17d
8:10470874 RP1L1 G>C	8	10470874	10470874	G	C	RP1L1	c.752-18C>G	NM_178857.6	NP_849188.4:p.?	NC_000008.10:g.10470874G>C	(Likely) benign	1 lab	78bcb55b46
16:15873018 MYH11 C>T	16	15873018	15873018	C	T	MYH11	c.748-318G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15873018C>T	(Likely) benign	1 lab	78bf13015f
2:21236242 APOB G>A	2	21236242	21236242	G	A	APOB	c.4006C>T	NM_000384.3	NP_000375.3:p.(Gln1336Ter)	NC_000002.11:g.21236242G>A	(Likely) pathogenic	1 lab	78bfcdb9c0
X:114879420 PLS3 G>A	X	114879420	114879420	G	A	PLS3	c.1262+1G>A	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114879420G>A	(Likely) pathogenic	1 lab	78bfcecb9f
17:7579471 TP53 G>A	17	7579471	7579471	G	A	TP53	c.216C>T	NM_000546.6	NP_000537.3:p.(Pro72=)	NC_000017.10:g.7579471G>A	(Likely) benign	1 lab	78c0744956
15:72040745 THSD4 T>C	15	72040745	72040745	T	C	THSD4	c.2242-15T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72040745T>C	(Likely) benign	1 lab	78c4d2d028
9:79891006 VPS13A T>C	9	79891006	79891006	T	C	VPS13A	c.2693T>C	NM_001018037.2	NP_001018047.1:p.(Val898Ala)	NC_000009.11:g.79891006T>C	(Likely) benign	1 lab	78c7dffc92
4:113568487 LARP7 GCT>G	4	113568487	113568491	GCT	G	LARP7	c.803_804del	NM_001267039.2	NP_001253968.1:p.(Ser268Ter)	NC_000004.11:g.113568490_113568491del	(Likely) pathogenic	1 lab	78c9cad946
11:47370134 MYBPC3 C>T	11	47370134	47370134	C	T	MYBPC3	c.655-42G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370134C>T	(Likely) benign	1 lab	78ca082e15
6:152651230 SYNE1 C>T	6	152651230	152651230	C	T	SYNE1	c.14590G>A	NM_182961.4	NP_892006.3:p.(Glu4864Lys)	NC_000006.11:g.152651230C>T	VUS	1 lab	78cf85d12e
3:78710289 ROBO1 T>A	3	78710289	78710289	T	A	ROBO1	c.2103A>T	NM_133631.4	NP_598334.2:p.(Val701=)	NC_000003.11:g.78710289T>A	(Likely) benign	1 lab	78d1ef412d
9:4808790 RCL1 Ref too long to show for this DEL>A	9	4808790	4849596	Ref too long to show for this DEL	A	RCL1	c.137-14756_971+46del	NM_005772.5	NP_005763.3:p.?	NC_000009.11:g.4808792_4849596del	VUS	1 lab	78d38d90d5
2:99013338 CNGA3 C>T	2	99013338	99013338	C	T	CNGA3	c.1705C>T	NM_001298.3	NP_001289.1:p.(Arg569Cys)	NC_000002.11:g.99013338C>T	VUS	1 lab	78d3f2d51b
2:170093597 LRP2 T>A	2	170093597	170093597	T	A	LRP2	c.4691+16A>T	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170093597T>A	(Likely) benign	1 lab	78d6787ce1
8:55537262 RP1 C>A	8	55537262	55537262	C	A	RP1	c.820C>A	NM_006269.2	NP_006260.1:p.(Gln274Lys)	NC_000008.10:g.55537262C>A	VUS	1 lab	78d683db0d
22:26937321 TPST2 G>A	22	26937321	26937321	G	A	TPST2	c.276C>T	NM_001008566.3	NP_001008566.1:p.(Pro92=)	NC_000022.10:g.26937321G>A	(Likely) benign	1 lab	78d8560d80
8:55541620 RP1 T>C	8	55541620	55541620	T	C	RP1	c.5178T>C	NM_006269.2	NP_006260.1:p.(Asn1726=)	NC_000008.10:g.55541620T>C	(Likely) benign	1 lab	78d8823298
14:88407821 GALC T>C	14	88407821	88407821	T	C	GALC	c.1752A>G	NM_000153.4	NP_000144.2:p.(Lys584=)	NC_000014.8:g.88407821T>C	(Likely) benign	1 lab	78d95fc4fd
15:34536090 SLC12A6 C>T	15	34536090	34536090	C	T	SLC12A6	c.2015+85G>A	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34536090C>T	(Likely) benign	1 lab	78daa06295
10:72604263 SGPL1 G>T	10	72604263	72604263	G	T	SGPL1	c.61G>T	NM_003901.4	NP_003892.2:p.(Val21Leu)	NC_000010.10:g.72604263G>T	(Likely) benign	1 lab	78db9ba2fe
1:156106235 LMNA C>T	1	156106235	156106235	C	T	LMNA	c.1380+8C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156106235C>T	(Likely) benign	1 lab	78df229398
2:44102271 ABCG8 G>T	2	44102271	44102271	G	T	ABCG8	c.1489-14G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102271G>T	(Likely) benign	1 lab	78e253cd68
11:108129819 ATM T>C	11	108129819	108129819	T	C	ATM	c.2466+17T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129819T>C	(Likely) benign	1 lab	78e414660e
12:33021581 PKP2 C>T	12	33021581	33021581	C	T	PKP2	c.1170+280G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33021581C>T	(Likely) benign	1 lab	78e5817f2a
18:59815446 PIGN C>T	18	59815446	59815446	C	T	PIGN	c.674+1G>A	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59815446C>T	(Likely) pathogenic	1 lab	78e8a84d43
8:90976666 NBN G>C	8	90976666	90976666	G	C	NBN	c.966C>G	NM_002485.5	NP_002476.2:p.(Tyr322Ter)	NC_000008.10:g.90976666G>C	(Likely) pathogenic	1 lab	78eb453acf
5:178413929 GRM6 G>A	5	178413929	178413929	G	A	GRM6	c.1410C>T	NM_000843.4	NP_000834.2:p.(Tyr470=)	NC_000005.9:g.178413929G>A	(Likely) benign	1 lab	78ec2cfe11
16:67974738 LCAT CA>C	16	67974738	67974758	CA	C	LCAT	c.749-358del	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67974758del	(Likely) benign	1 lab	78ec44be76
1:216373476 USH2A G>GA	1	216373476	216373488	G	GA	USH2A	c.3317-14dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216373488dup	(Likely) benign	1 lab	78efc4dd60
12:32777393 FGD4 C>T	12	32777393	32777393	C	T	FGD4	c.1953+7C>T	NM_001370298.3	NP_001357227.2:p.?	NC_000012.11:g.32777393C>T	(Likely) benign	1 lab	78f2df133f
16:57007219 CETP A>G	16	57007219	57007219	A	G	CETP	c.751-24A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007219A>G	(Likely) benign	1 lab	78f3b18ac7
4:114179201 ANK2 C>T	4	114179201	114179201	C	T	ANK2	c.1189-5C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114179201C>T	(Likely) benign	1 lab	78f62c63a8
2:182542916 NEUROD1 A>G	2	182542916	182542916	A	G	NEUROD1	c.672T>C	NM_002500.5	NP_002491.3:p.(Pro224=)	NC_000002.11:g.182542916A>G	(Likely) benign	1 lab	78f6a4d129
1:218610674 TGFB2 T>C	1	218610674	218610674	T	C	TGFB2	c.933-11T>C	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218610674T>C	(Likely) benign	1 lab	78f81c8662
7:128478096 FLNC C>CCAAGGTCGCTGGGTTACA	7	128478096	128478120	C	CCAAGGTCGCTGGGTTACA	FLNC	c.1032_1047+2dup	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478103_128478120dup	VUS	1 lab	78fc1e8faa
2:179614923 TTN G>A	2	179614923	179614923	G	A	TTN	c.12204C>T	NM_133379.5	NP_596870.2:p.(Gly4068=)	NC_000002.11:g.179614923G>A	(Likely) benign	1 lab	78fe8e2c71
10:50824588 CHAT G>A	10	50824588	50824588	G	A	CHAT	c.81G>A	NM_001142933.2	NP_001136405.2:p.(Thr27=)	NC_000010.10:g.50824588G>A	(Likely) benign	1 lab	7906599a21
15:48714186 FBN1 A>C	15	48714186	48714186	A	C	FBN1	c.7533T>G	NM_000138.5	NP_000129.3:p.(Cys2511Trp)	NC_000015.9:g.48714186A>C	(Likely) pathogenic	1 lab	7908994869
6:7579661 DSP G>C	6	7579661	7579661	G	C	DSP	c.3238G>C	NM_004415.4	NP_004406.2:p.(Glu1080Gln)	NC_000006.11:g.7579661G>C	VUS	1 lab	790919867b
11:2181073 INS G>A	11	2181073	2181073	G	A	INS	c.*9C>T	NM_001185098.2	NP_001172027.1:p.?	NC_000011.9:g.2181073G>A	(Likely) benign	1 lab	790ad11d39
19:51857643 ETFB G>C	19	51857643	51857643	G	C	ETFB	c.250C>G	NM_001014763.1	NP_001014763.1:p.(Pro84Ala)	NC_000019.9:g.51857643G>C	VUS	1 lab	790bc66d1e
12:88443187 CEP290 T>G	12	88443187	88443187	T	G	CEP290	c.7214A>C	NM_025114.4	NP_079390.3:p.(Glu2405Ala)	NC_000012.11:g.88443187T>G	VUS	1 lab	790db0ba2e
15:48760563 FBN1 T>C	15	48760563	48760563	T	C	FBN1	c.4582+46A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760563T>C	(Likely) benign	1 lab	79111f421d
19:3638918 PIP5K1C C>T	19	3638918	3638918	C	T	PIP5K1C	c.1884G>A	NM_012398.3	NP_036530.1:p.(Ser628=)	NC_000019.9:g.3638918C>T	(Likely) benign	1 lab	7911d20a85
14:61407537 MISSING Ref too long to show for this DEL>T	14	61407537	61536214	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.61407539_61536214del	VUS	1 lab	791672bc02
12:49373414 WNT1 G>A	12	49373414	49373414	G	A	WNT1	c.268G>A	NM_005430.4	NP_005421.1:p.(Val90Met)	NC_000012.11:g.49373414G>A	VUS	1 lab	7919bb7834
15:58861036 LIPC A>G	15	58861036	58861036	A	G	LIPC	c.*10A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58861036A>G	VUS	1 lab	7af4a75d09
16:67203686 HSF4 T>G	16	67203686	67203686	T	G	HSF4				NC_000016.9:g.67203686T>G	VUS	1 lab	791c386f94
2:168025464 XIRP2 Ref too long to show for this DEL>A	2	168025464	168084582	Ref too long to show for this DEL	A	XIRP2	c.562+32895_858+9772del	NM_152381.6	NP_689594.4:p.?	NC_000002.11:g.168025467_168084582del	VUS	1 lab	791f323c83
11:47362729 MYBPC3 C>T	11	47362729	47362729	C	T	MYBPC3	c.1857G>A	NM_000256.3	NP_000247.2:p.(Glu619=)	NC_000011.9:g.47362729C>T	VUS	1 lab	791f38358f
16:3707027 DNASE1 T>G	16	3707027	3707027	T	G	DNASE1	c.464T>G	NM_005223.4	NP_005214.2:p.(Leu155Arg)	NC_000016.9:g.3707027T>G	VUS	1 lab	7921ac519e
15:48800538 FBN1 T>C	15	48800538	48800538	T	C	FBN1	c.1837+241A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48800538T>C	(Likely) benign	1 lab	79236ba1b1
2:179594218 TTN A>G	2	179594218	179594218	A	G	TTN	c.14933T>C	NM_133378.4	NP_596869.4:p.(Val4978Ala)	NC_000002.11:g.179594218A>G	VUS	1 lab	7927c20c1d
1:25889592 LDLRAP1 G>C	1	25889592	25889592	G	C	LDLRAP1	c.564G>C	NM_015627.3	NP_056442.2:p.(Glu188Asp)	NC_000001.10:g.25889592G>C	VUS	1 lab	7929eff23a
15:66729250 MAP2K1 C>T	15	66729250	66729250	C	T	MAP2K1	c.438+20C>T	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66729250C>T	(Likely) benign	1 lab	7929fedf3a
10:83636568 NRG3 C>Alt too long to show for this DUP	10	83636568	83707281	C	Alt too long to show for this DUP	NRG3	c.823+650_823+71362dup	NM_001010848.4	NP_001010848.2:p.?	NC_000010.10:g.83636569_83707281dup	VUS	1 lab	792a21a587
16:1001944 LMF1 A>G	16	1001944	1001944	A	G	LMF1	c.-52+2413T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1001944A>G	(Likely) benign	1 lab	792a86ee70
15:30913573 MISSING Ref too long to show for this DEL>T	15	30913573	32444044	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30913574_32444044del	(Likely) pathogenic	1 lab	792bb75319
12:27802932 PPFIBP1 A>C	12	27802932	27802932	A	C	PPFIBP1	c.472-11A>C	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27802932A>C	(Likely) benign	1 lab	792bbacd9a
2:179443369 TTN G>T	2	179443369	179443369	G	T	TTN	c.60594C>A	NM_133378.4	NP_596869.4:p.(Asp20198Glu)	NC_000002.11:g.179443369G>T	(Likely) benign	1 lab	792e8ec09b
2:21249727 APOB A>G	2	21249727	21249727	A	G	APOB	c.2177T>C	NM_000384.3	NP_000375.3:p.(Val726Ala)	NC_000002.11:g.21249727A>G	(Likely) benign	1 lab	792e914dcb
17:1416839 INPP5K A>C	17	1416839	1416839	A	C	INPP5K	c.169T>G	NM_016532.4	NP_057616.2:p.(Ser57Ala)	NC_000017.10:g.1416839A>C	(Likely) benign	1 lab	7931574e18
8:87588154 CNGB3 C>A	8	87588154	87588154	C	A	CNGB3	c.2308G>T	NM_019098.5	NP_061971.3:p.(Val770Phe)	NC_000008.10:g.87588154C>A	VUS	1 lab	793624d5d1
7:116339544 MET G>A	7	116339544	116339544	G	A	MET	c.406G>A	NM_001127500.3	NP_001120972.1:p.(Val136Ile)	NC_000007.13:g.116339544G>A	(Likely) benign	1 lab	793a066c1a
5:1201758 SLC6A19 C>T	5	1201758	1201758	C	T	SLC6A19	c.-8C>T	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1201758C>T	(Likely) benign	1 lab	79415d0eab
2:179397244 TTN G>A	2	179397244	179397244	G	A	TTN	c.96394C>T	NM_133378.4	NP_596869.4:p.(Pro32132Ser)	NC_000002.11:g.179397244G>A	VUS	1 lab	79422aafdd
2:1638114 PXDN G>A	2	1638114	1638114	G	A	PXDN	c.4321-19C>T	NM_012293.3	NP_036425.1:p.?	NC_000002.11:g.1638114G>A	(Likely) benign	1 lab	79447848e8
5:127800628 FBN2 GAAGA>G	5	127800628	127800640	GAAGA	G	FBN2	c.629-18_629-15del	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800637_127800640del	(Likely) benign	1 lab	7946b66725
9:137655660 COL5A1 G>A	9	137655660	137655660	G	A	COL5A1	c.2034+77G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137655660G>A	(Likely) benign	1 lab	7947d4cbe6
1:25870254 LDLRAP1 G>A	1	25870254	25870254	G	A	LDLRAP1	c.65G>A	NM_015627.3	NP_056442.2:p.(Trp22Ter)	NC_000001.10:g.25870254G>A	(Likely) pathogenic	1 lab	794c063b94
5:133948331 SAR1B TAAAAAAAAAAAAAAAA>T	5	133948331	133948371	TAAAAAAAAAAAAAAAA	T	SAR1B	c.244+34_244+49del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948356_133948371del	(Likely) benign	1 lab	794ec7f58d
19:11218191 LDLR G>T	19	11218191	11218191	G	T	LDLR	c.940+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218191G>T	(Likely) pathogenic	1 lab	794f66b05d
19:11240187 LDLR A>C	19	11240187	11240187	A	C	LDLR	c.2390-2A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240187A>C	(Likely) pathogenic	1 lab	795098e0ab
11:66458829 SPTBN2 C>T	11	66458829	66458829	C	T	SPTBN2	c.5491G>A	NM_006946.4	NP_008877.2:p.(Asp1831Asn)	NC_000011.9:g.66458829C>T	VUS	1 lab	79513e7f52
2:48028063 MSH6 A>G	2	48028063	48028063	A	G	MSH6	c.2941A>G	NM_000179.3	NP_000170.1:p.(Ile981Val)	NC_000002.11:g.48028063A>G	VUS	1 lab	79544a1bb8
16:918964 LMF1 G>A	16	918964	918964	G	A	LMF1	c.1429C>T	NM_001352020.1	NP_001338949.1:p.(Arg477Cys)	NC_000016.9:g.918964G>A	VUS	1 lab	7954f4d1b7
8:144296999 GPIHBP1 C>T	8	144296999	144296999	C	T	GPIHBP1	c.293C>T	NM_178172.6	NP_835466.2:p.(Thr98Ile)	NC_000008.10:g.144296999C>T	VUS	1 lab	7955199a14
1:197447002 CRB1 T>C	1	197447002	197447002	T	C	CRB1	c.4142T>C	NM_001257965.2	NP_001244894.1:p.(Leu1381Pro)	NC_000001.10:g.197447002T>C	VUS	1 lab	795773a2e6
9:107645674 ABCA1 T>C	9	107645674	107645674	T	C	ABCA1	c.303-236A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645674T>C	(Likely) benign	1 lab	79581e9ca2
1:25870254 LDLRAP1 G>T	1	25870254	25870254	G	T	LDLRAP1	c.65G>T	NM_015627.3	NP_056442.2:p.(Trp22Leu)	NC_000001.10:g.25870254G>T	VUS	1 lab	7958b06514
7:92764617 SAMD9L C>T	7	92764617	92764617	C	T	SAMD9L	c.668G>A	NM_152703.5	NP_689916.2:p.(Arg223Gln)	NC_000007.13:g.92764617C>T	VUS	1 lab	7958dd149f
9:130230038 LRSAM1 C>T	9	130230038	130230038	C	T	LRSAM1	c.548C>T	NM_138361.5	NP_612370.3:p.(Ser183Leu)	NC_000009.11:g.130230038C>T	(Likely) benign	1 lab	7958ea7a2b
5:170818261 MISSING Ref too long to show for this DEL>A	5	170818261	170963435	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.170818262_170963435del	VUS	1 lab	795953a270
9:134396801 POMT1 C>T	9	134396801	134396801	C	T	POMT1	c.1671C>T	NM_001353198.2	NP_001340127.2:p.(Ala557=)	NC_000009.11:g.134396801C>T	(Likely) benign	1 lab	795c54ece5
17:41256401 BRCA1 AC>A	17	41256401	41256403	AC	A	BRCA1	c.302-124del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41256403del	(Likely) benign	1 lab	7b88a294d6
1:236918524 ACTN2 C>T	1	236918524	236918524	C	T	ACTN2	c.2154+26C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236918524C>T	(Likely) benign	1 lab	795e2375de
2:220504318 SLC4A3 C>G	2	220504318	220504318	C	G	SLC4A3	c.3219C>G	NM_001326559.2	NP_001313488.2:p.(Leu1073=)	NC_000002.11:g.220504318C>G	(Likely) benign	1 lab	795f334d30
1:230927632 MISSING G>Alt too long to show for this DUP	1	230927632	231090125	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.230927633_231090125dup	(Likely) pathogenic	1 lab	7960305022
16:1005412 LMF1 G>C	16	1005412	1005412	G	C	LMF1	c.-361-746C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005412G>C	(Likely) benign	1 lab	796058a2f1
14:45665717 FANCM T>C	14	45665717	45665717	T	C	FANCM	c.5683T>C	NM_020937.4	NP_065988.1:p.(Cys1895Arg)	NC_000014.8:g.45665717T>C	VUS	1 lab	7960d692ad
14:64557734 SYNE2 A>C	14	64557734	64557734	A	C	SYNE2	c.11944A>C	NM_182914.3	NP_878918.2:p.(Asn3982His)	NC_000014.8:g.64557734A>C	(Likely) benign	1 lab	796b60f2d6
2:44065746 ABCG5 G>C	2	44065746	44065746	G	C	ABCG5	c.73C>G	NM_022436.3	NP_071881.1:p.(Leu25Val)	NC_000002.11:g.44065746G>C	VUS	1 lab	796bad6cf6
5:131938984 RAD50 C>T	5	131938984	131938984	C	T	RAD50	c.2208-8C>T	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131938984C>T	(Likely) benign	1 lab	796f240e9c
16:77353790 ADAMTS18 G>A	16	77353790	77353790	G	A	ADAMTS18	c.2488C>T	NM_199355.4	NP_955387.1:p.(Arg830Cys)	NC_000016.9:g.77353790G>A	VUS	1 lab	797034eeae
12:30835007 IPO8 A>G	12	30835007	30835007	A	G	IPO8	c.324-256T>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30835007A>G	(Likely) benign	1 lab	797367f01a
8:19822797 LPL CCTTTTTCCTGTG>C	8	19822797	19822816	CCTTTTTCCTGTG	C	LPL	c.1428-16_1428-5del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822805_19822816del	(Likely) benign	1 lab	79736ce03f
5:32786371 NPR3 AC>A	5	32786371	32786374	AC	A	NPR3	c.1549del	NM_001204375.2	NP_001191304.1:p.(Gln517SerfsTer24)	NC_000005.9:g.32786374del	(Likely) pathogenic	1 lab	797998d0bd
15:48766575 FBN1 C>A	15	48766575	48766575	C	A	FBN1	c.4088-1G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48766575C>A	(Likely) pathogenic	1 lab	797a34176e
1:112329552 KCND3 C>T	1	112329552	112329552	C	T	KCND3	c.1269+14G>A	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112329552C>T	(Likely) benign	1 lab	797ca93c18
X:77294454 ATP7A G>A	X	77294454	77294454	G	A	ATP7A	c.3632G>A	NM_000052.7	NP_000043.4:p.(Arg1211Gln)	NC_000023.10:g.77294454G>A	VUS	1 lab	798ba533b6
16:70296426 AARS1 T>C	16	70296426	70296426	T	C	AARS1	c.1494A>G	NM_001605.3	NP_001596.2:p.(Val498=)	NC_000016.9:g.70296426T>C	(Likely) benign	1 lab	798d9ef945
4:5055189 STK32B Ref too long to show for this DEL>G	4	5055189	5186934	Ref too long to show for this DEL	G	STK32B	c.52+1551_260+16757del	NM_018401.3	NP_060871.1:p.?	NC_000004.11:g.5055193_5186934del	VUS	1 lab	798eda64a2
11:47374002 MYBPC3 G>A	11	47374002	47374002	G	A	MYBPC3	c.25+172C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47374002G>A	(Likely) benign	1 lab	7990c8767d
X:53552256 MISSING A>Alt too long to show for this DUP	X	53552256	53620826	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.53552259_53620826dup	(Likely) pathogenic	1 lab	7bf14892f8
7:100420207 EPHB4 C>T	7	100420207	100420207	C	T	EPHB4	c.494G>A	NM_004444.5	NP_004435.3:p.(Arg165His)	NC_000007.13:g.100420207C>T	VUS	1 lab	799341d4d2
7:94045727 COL1A2 G>A	7	94045727	94045727	G	A	COL1A2	c.1775G>A	NM_000089.4	NP_000080.2:p.(Gly592Asp)	NC_000007.13:g.94045727G>A	(Likely) pathogenic	1 lab	7993460cba
5:138145835 CTNNA1 G>A	5	138145835	138145835	G	A	CTNNA1	c.410G>A	NM_001903.5	NP_001894.2:p.(Arg137Gln)	NC_000005.9:g.138145835G>A	VUS	1 lab	79a6900806
22:19751837 TBX1 C>T	22	19751837	19751837	C	T	TBX1	c.672C>T	NM_080647.1	NP_542378.1:p.(Asp224=)	NC_000022.10:g.19751837C>T	(Likely) benign	1 lab	79940c2741
15:85329557 MISSING A>Alt too long to show for this DUP	15	85329557	85466144	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.85329558_85466144dup	VUS	1 lab	7995986000
2:179463879 TTN G>T	2	179463879	179463879	G	T	TTN	c.56641C>A	NM_001267550.2	NP_001254479.2:p.(Leu18881Ile)	NC_000002.11:g.179463879G>T	VUS	1 lab	79987cc52a
15:44900775 SPG11 C>G	15	44900775	44900775	C	G	SPG11	c.3320G>C	NM_025137.4	NP_079413.3:p.(Cys1107Ser)	NC_000015.9:g.44900775C>G	VUS	1 lab	7998c8fb46
12:48368393 COL2A1 G>C	12	48368393	48368393	G	C	COL2A1	c.4074+65C>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48368393G>C	(Likely) benign	1 lab	799b01dd61
10:20255895 MISSING A>Alt too long to show for this DUP	10	20255895	20636897	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.20255896_20636897dup	VUS	1 lab	799bfb9e66
3:49691675 BSN A>G	3	49691675	49691675	A	G	BSN	c.4686A>G	NM_003458.4	NP_003449.2:p.(Ala1562=)	NC_000003.11:g.49691675A>G	(Likely) benign	1 lab	79a13a07e8
10:92678744 ANKRD1 A>AT	10	92678744	92678745	A	AT	ANKRD1	c.346-16_346-15insA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insT	(Likely) benign	1 lab	79a257c31a
7:128496601 FLNC G>A	7	128496601	128496601	G	A	FLNC	c.7281G>A	NM_001458.5	NP_001449.3:p.(Ala2427=)	NC_000007.13:g.128496601G>A	(Likely) benign	1 lab	79a3ef1611
6:123892248 TRDN C>G	6	123892248	123892248	C	G	TRDN	c.52G>C	NM_006073.4	NP_006064.2:p.(Asp18His)	NC_000006.11:g.123892248C>G	VUS	1 lab	79a4be434d
10:108506843 SORCS1 Ref too long to show for this DEL>T	10	108506843	108572657	Ref too long to show for this DEL	T	SORCS1	c.726+16678_959+14502del	NM_052918.5	NP_443150.3:p.?	NC_000010.10:g.108506847_108572657del	(Likely) pathogenic	1 lab	79a6a305ee
2:63660996 WDPCP A>G	2	63660996	63660996	A	G	WDPCP	c.708T>C	NM_015910.7	NP_056994.3:p.(Asp236=)	NC_000002.11:g.63660996A>G	(Likely) benign	1 lab	79a6e91f99
2:179429242 TTN A>G	2	179429242	179429242	A	G	TTN	c.81617T>C	NM_001267550.2	NP_001254479.2:p.(Ile27206Thr)	NC_000002.11:g.179429242A>G	VUS	1 lab	79aa5b94fb
11:47366444 MYBPC3 T>G	11	47366444	47366444	T	G	MYBPC3	c.1091-1269A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366444T>G	(Likely) benign	1 lab	79ad0f1f1a
5:137507104 BRD8 TAAA>T	5	137507104	137507120	TAAA	T	BRD8	c.187-8_187-6del	NM_139199.2	NP_631938.2:p.?	NC_000005.9:g.137507118_137507120del	(Likely) benign	1 lab	79ae2cefe0
12:125299665 SCARB1 G>C	12	125299665	125299665	G	C	SCARB1	c.285-5C>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125299665G>C	VUS	1 lab	79b111140c
11:47364383 MYBPC3 T>A	11	47364383	47364383	T	A	MYBPC3	c.1455A>T	NM_000256.3	NP_000247.2:p.(Lys485Asn)	NC_000011.9:g.47364383T>A	VUS	1 lab	79b26681cd
9:107580659 ABCA1 C>T	9	107580659	107580659	C	T	ABCA1	c.3462+285G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580659C>T	(Likely) benign	1 lab	79b27836dd
19:11238766 LDLR G>C	19	11238766	11238766	G	C	LDLR	c.2389+5G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238766G>C	(Likely) pathogenic	1 lab	79b3746b79
X:138689086 MCF2 G>Alt too long to show for this DUP	X	138689086	138696811	G	Alt too long to show for this DUP	MCF2	c.1543+231_1718+763dup	NM_001171876.2	NP_001165347.1:p.?	NC_000023.10:g.138689089_138696811dup	VUS	1 lab	79baae9117
11:68193603 LRP5 C>T	11	68193603	68193603	C	T	LRP5	c.3585C>T	NM_002335.4	NP_002326.2:p.(Val1195=)	NC_000011.9:g.68193603C>T	(Likely) benign	1 lab	79bf0f5653
14:23898231 MYH7 A>T	14	23898231	23898231	A	T	MYH7	c.1340T>A	NM_000257.4	NP_000248.2:p.(Leu447Gln)	NC_000014.8:g.23898231A>T	VUS	1 lab	79c584c460
6:7585884 DSP A>G	6	7585884	7585884	A	G	DSP	c.8389A>G	NM_004415.4	NP_004406.2:p.(Ile2797Val)	NC_000006.11:g.7585884A>G	VUS	1 lab	79c658e83a
12:22017430 ABCC9 A>G	12	22017430	22017430	A	G	ABCC9	c.2199-19T>C	NM_001377273.1	NP_001364202.1:p.?	NC_000012.11:g.22017430A>G	(Likely) benign	1 lab	79c769b379
1:94505702 ABCA4 A>C	1	94505702	94505702	A	C	ABCA4	c.3523-19T>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94505702A>C	(Likely) benign	1 lab	79c87bd6b2
6:156974 MISSING Ref too long to show for this DEL>T	6	156974	1681202	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.156975_1681202del	(Likely) pathogenic	1 lab	79c89bcebf
17:56811455 RAD51C G>A	17	56811455	56811455	G	A	RAD51C	c.1027-24G>A	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56811455G>A	(Likely) benign	1 lab	79c9577252
15:37358556 MEIS2 T>C	15	37358556	37358556	T	C	MEIS2	c.754+17416A>G	NM_170677.5	NP_733777.1:p.?	NC_000015.9:g.37358556T>C	(Likely) benign	1 lab	79ca30ad9d
7:150655442 KCNH2 G>A	7	150655442	150655442	G	A	KCNH2	c.621C>T	NM_000238.4	NP_000229.1:p.(Ser207=)	NC_000007.13:g.150655442G>A	(Likely) benign	1 lab	79ce63ebfd
16:15853596 MYH11 C>G	16	15853596	15853596	C	G	MYH11	c.1270-11G>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15853596C>G	(Likely) benign	1 lab	79cebb43e5
1:35250396 GJB3 C>T	1	35250396	35250396	C	T	GJB3	c.33C>T	NM_024009.3	NP_076872.1:p.(Ser11=)	NC_000001.10:g.35250396C>T	(Likely) benign	1 lab	79cf66d6b0
1:94490587 ABCA4 C>T	1	94490587	94490587	C	T	ABCA4	c.4557G>A	NM_000350.3	NP_000341.2:p.(Thr1519=)	NC_000001.10:g.94490587C>T	(Likely) benign	1 lab	79d08890cd
1:218536791 TGFB2 T>C	1	218536791	218536791	T	C	TGFB2	c.346+16402T>C	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218536791T>C	(Likely) benign	1 lab	79d2474fb4
3:195512820 MUC4 G>A	3	195512820	195512820	G	A	MUC4	c.5631C>T	NM_018406.7	NP_060876.5:p.(Asp1877=)	NC_000003.11:g.195512820G>A	(Likely) benign	1 lab	79d2f04513
10:75860859 VCL G>A	10	75860859	75860859	G	A	VCL	c.2022+4G>A	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75860859G>A	(Likely) benign	1 lab	79d4556cb5
1:6485099 ESPN G>T	1	6485099	6485099	G	T	ESPN	c.84G>T	NM_031475.3	NP_113663.2:p.(Gly28=)	NC_000001.10:g.6485099G>T	(Likely) benign	1 lab	79d52ec807
12:21330211 SLCO1B1 A>G	12	21330211	21330211	A	G	SLCO1B1	c.481+380A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21330211A>G	(Likely) benign	1 lab	79d762dc70
7:151329138 PRKAG2 G>T	7	151329138	151329138	G	T	PRKAG2	c.754+17C>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151329138G>T	(Likely) benign	1 lab	79e0815825
9:133327714 ASS1 C>T	9	133327714	133327714	C	T	ASS1	c.99C>T	NM_000050.4	NP_000041.2:p.(Ala33=)	NC_000009.11:g.133327714C>T	(Likely) benign	1 lab	79e0f874fd
8:19811661 LPL A>T	8	19811661	19811661	A	T	LPL	c.572A>T	NM_000237.3	NP_000228.1:p.(Tyr191Phe)	NC_000008.10:g.19811661A>T	VUS	1 lab	79e37ee3b1
8:12044278 FAM86B1 A>C	8	12044278	12044278	A	C	FAM86B1	c.305T>G	NM_001083537.3	NP_001077006.1:p.(Leu102Arg)	NC_000008.10:g.12044278A>C	(Likely) benign	1 lab	79e80bc09a
10:114910815 TCF7L2 C>T	10	114910815	114910815	C	T	TCF7L2	c.880C>T	NM_001198525.2	NP_001185454.1:p.(Pro294Ser)	NC_000010.10:g.114910815C>T	VUS	1 lab	79ec7760e6
10:73553372 CDH23 C>T	10	73553372	73553372	C	T	CDH23	c.6687C>T	NM_022124.6	NP_071407.4:p.(Asp2229=)	NC_000010.10:g.73553372C>T	(Likely) benign	1 lab	79ef51d763
17:33430464 RAD51D A>G	17	33430464	33430464	A	G	RAD51D	c.667+9T>C	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33430464A>G	(Likely) benign	1 lab	79f0267b6c
1:3328798 PRDM16 C>A	1	3328798	3328798	C	A	PRDM16	c.2037C>A	NM_022114.4	NP_071397.3:p.(Asp679Glu)	NC_000001.10:g.3328798C>A	VUS	1 lab	79f09c1851
X:39415439 MISSING C>Alt too long to show for this DUP	X	39415439	39913459	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.39415441_39913459dup	VUS	1 lab	79f2c70e8f
12:21325347 SLCO1B1 G>A	12	21325347	21325347	G	A	SLCO1B1	c.85-237G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325347G>A	(Likely) benign	1 lab	7a8473e4e4
15:48744647 FBN1 T>G	15	48744647	48744647	T	G	FBN1	c.5545+112A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48744647T>G	(Likely) benign	1 lab	79f43b1792
4:100504679 MTTP A>G	4	100504679	100504679	A	G	MTTP	c.393+5A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504679A>G	(Likely) benign	1 lab	79f67acf93
8:59407181 CYP7A1 A>G	8	59407181	59407181	A	G	CYP7A1	c.923T>C	NM_000780.4	NP_000771.2:p.(Met308Thr)	NC_000008.10:g.59407181A>G	VUS	1 lab	79f68e0150
9:34485184 DNAI1 G>A	9	34485184	34485184	G	A	DNAI1	c.126G>A	NM_001281428.2	NP_001268357.1:p.(Trp42Ter)	NC_000009.11:g.34485184G>A	(Likely) pathogenic	1 lab	79fa59a989
2:219674321 CYP27A1 G>A	2	219674321	219674321	G	A	CYP27A1	c.277G>A	NM_000784.4	NP_000775.1:p.(Gly93Ser)	NC_000002.11:g.219674321G>A	VUS	1 lab	79fd7db489
2:179404201 TTN A>G	2	179404201	179404201	A	G	TTN	c.98591T>C	NM_001267550.2	NP_001254479.2:p.(Val32864Ala)	NC_000002.11:g.179404201A>G	VUS	1 lab	79feb2a860
17:68171354 KCNJ2 C>T	17	68171354	68171354	C	T	KCNJ2	c.174C>T	NM_000891.3	NP_000882.1:p.(Phe58=)	NC_000017.10:g.68171354C>T	(Likely) benign	1 lab	7a016a584a
17:34072083 GAS2L2 G>A	17	34072083	34072083	G	A	GAS2L2	c.2433C>T	NM_139285.4	NP_644814.1:p.(Pro811=)	NC_000017.10:g.34072083G>A	(Likely) benign	1 lab	7a019f80df
8:145583960 SLC52A2 C>T	8	145583960	145583960	C	T	SLC52A2	c.808C>T	NM_024531.5	NP_078807.1:p.(Gln270Ter)	NC_000008.10:g.145583960C>T	(Likely) pathogenic	1 lab	7a04db69a3
6:7576968 DSP C>T	6	7576968	7576968	C	T	DSP	c.2794-224C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7576968C>T	(Likely) benign	1 lab	7a05188b0e
2:189849260 COL3A1 G>C	2	189849260	189849260	G	C	COL3A1	c.80-226G>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189849260G>C	(Likely) benign	1 lab	7a08fdc450
2:47702246 MSH2 A>C	2	47702246	47702246	A	C	MSH2	c.1842A>C	NM_000251.3	NP_000242.1:p.(Gly614=)	NC_000002.11:g.47702246A>C	(Likely) benign	1 lab	7a0aca3b79
9:21305004 IFNA5 G>A	9	21305004	21305004	G	A	IFNA5	c.252C>T	NM_002169.3	NP_002160.1:p.(Ile84=)	NC_000009.11:g.21305004G>A	(Likely) benign	1 lab	7a0ded7d4c
7:110459058 IMMP2L Ref too long to show for this DEL>C	7	110459058	110500416	Ref too long to show for this DEL	C	IMMP2L	c.408+26233_408+67590del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110459059_110500416del	VUS	1 lab	7a0e61e4a1
1:161276564 MPZ C>T	1	161276564	161276564	C	T	MPZ	c.382G>A	NM_000530.8	NP_000521.2:p.(Asp128Asn)	NC_000001.10:g.161276564C>T	(Likely) pathogenic	1 lab	7a104b1c93
2:166900543 SCN1A C>T	2	166900543	166900543	C	T	SCN1A	c.1679G>A	NM_001165963.4	NP_001159435.1:p.(Arg560His)	NC_000002.11:g.166900543C>T	VUS	1 lab	7a11886839
12:56630475 SLC39A5 G>A	12	56630475	56630475	G	A	SLC39A5	c.1152G>A	NM_173596.3	NP_775867.2:p.(Thr384=)	NC_000012.11:g.56630475G>A	(Likely) benign	1 lab	7a12761a40
16:56995963 CETP C>T	16	56995963	56995963	C	T	CETP	c.72C>T	NM_000078.3	NP_000069.2:p.(His24=)	NC_000016.9:g.56995963C>T	(Likely) benign	1 lab	7a169d51be
2:238434465 MLPH A>C	2	238434465	238434465	A	C	MLPH	c.880+17A>C	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238434465A>C	(Likely) benign	1 lab	7a171696fa
2:44078806 ABCG8 G>T	2	44078806	44078806	G	T	ABCG8	c.406G>T	NM_022437.3	NP_071882.1:p.(Gly136Trp)	NC_000002.11:g.44078806G>T	VUS	1 lab	7a1896b285
1:5947400 NPHP4 T>C	1	5947400	5947400	T	C	NPHP4	c.2431A>G	NM_015102.5	NP_055917.1:p.(Ile811Val)	NC_000001.10:g.5947400T>C	(Likely) benign	1 lab	7a19e411f1
2:44071736 ABCG8 C>G	2	44071736	44071736	C	G	ABCG8	c.154C>G	NM_022437.3	NP_071882.1:p.(Leu52Val)	NC_000002.11:g.44071736C>G	VUS	1 lab	7a1c5e2305
10:13336485 PHYH C>T	10	13336485	13336485	C	T	PHYH	c.57G>A	NM_001323080.2	NP_001310009.1:p.(Thr19=)	NC_000010.10:g.13336485C>T	(Likely) benign	1 lab	7a1ca8ca33
2:179614428 TTN A>G	2	179614428	179614428	A	G	TTN	c.12699T>C	NM_133379.5	NP_596870.2:p.(Ala4233=)	NC_000002.11:g.179614428A>G	(Likely) benign	1 lab	7a20a8134b
6:75890932 COL12A1 TTA>T	6	75890932	75890934	TTA	T	COL12A1	c.1892-7_1892-6del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890933_75890934del	(Likely) benign	1 lab	7a223f1b4e
12:57431312 MYO1A T>G	12	57431312	57431312	T	G	MYO1A	c.2055+20A>C	NM_001256041.2	NP_001242970.1:p.?	NC_000012.11:g.57431312T>G	(Likely) benign	1 lab	7a22cf6e26
9:101894844 TGFBR1 C>T	9	101894844	101894844	C	T	TGFBR1	c.397C>T	NM_004612.4	NP_004603.1:p.(Pro133Ser)	NC_000009.11:g.101894844C>T	VUS	1 lab	7a28ab0646
1:116933052 ATP1A1 C>T	1	116933052	116933052	C	T	ATP1A1	c.1222+19C>T	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116933052C>T	(Likely) benign	1 lab	7a29137cae
5:175746964 SIMC1 Ref too long to show for this DEL>C	5	175746964	175765991	Ref too long to show for this DEL	C	SIMC1	c.1890-2308_2413+1842del	NM_001308195.2	NP_001295124.1:p.?	NC_000005.9:g.175746968_175765991del	VUS	1 lab	7a2c202aec
6:31324599 HLA-B T>G	6	31324599	31324599	T	G	HLA-B	c.209A>C	NM_005514.8	NP_005505.2:p.(Glu70Ala)	NC_000006.11:g.31324599T>G	(Likely) benign	1 lab	7a2c474fc3
7:73307060 MISSING T>Alt too long to show for this DUP	7	73307060	73605470	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.73307061_73605470dup	VUS	1 lab	7a2fa0c276
7:94048009 COL1A2 T>C	7	94048009	94048009	T	C	COL1A2	c.2025+145T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94048009T>C	(Likely) benign	1 lab	7a30171b36
2:21233719 APOB C>T	2	21233719	21233719	C	T	APOB	c.6021G>A	NM_000384.3	NP_000375.3:p.(Val2007=)	NC_000002.11:g.21233719C>T	(Likely) benign	1 lab	7a327b8e28
1:55524239 PCSK9 C>T	1	55524239	55524239	C	T	PCSK9	c.1422C>T	NM_174936.4	NP_777596.2:p.(Val474=)	NC_000001.10:g.55524239C>T	(Likely) benign	1 lab	7a363239ec
15:85360333 ALPK3 C>A	15	85360333	85360333	C	A	ALPK3				NC_000015.9:g.85360333C>A	VUS	1 lab	7a3741f3f7
1:78343391 MISSING A>Alt too long to show for this DUP	1	78343391	78414119	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.78343393_78414119dup	VUS	1 lab	7a396d2ab4
2:44052167 ABCG5 C>A	2	44052167	44052167	C	A	ABCG5	c.775-10G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052167C>A	(Likely) benign	1 lab	7a3a6e01ca
1:150530043 ADAMTSL4 G>A	1	150530043	150530043	G	A	ADAMTSL4	c.2121G>A	NM_019032.6	NP_061905.2:p.(Ala707=)	NC_000001.10:g.150530043G>A	(Likely) benign	1 lab	7a3e2f213d
21:47411927 COL6A1 G>A	21	47411927	47411927	G	A	COL6A1	c.1123G>A	NM_001848.3	NP_001839.2:p.(Glu375Lys)	NC_000021.8:g.47411927G>A	VUS	1 lab	7a3fb7467a
X:69460026 AWAT1 C>T	X	69460026	69460026	C	T	AWAT1	c.873C>T	NM_001013579.3	NP_001013597.1:p.(Ser291=)	NC_000023.10:g.69460026C>T	(Likely) benign	1 lab	7a421528db
13:49039125 RB1 C>T	13	49039125	49039125	C	T	RB1	c.2212-9C>T	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039125C>T	(Likely) benign	1 lab	7a433e3604
1:240619553 MISSING T>Alt too long to show for this DUP	1	240619553	240644110	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.240619554_240644110dup	VUS	1 lab	7a45c1aea1
2:179560103 TTN A>T	2	179560103	179560103	A	T	TTN	c.31242T>A	NM_001267550.2	NP_001254479.2:p.(Pro10414=)	NC_000002.11:g.179560103A>T	(Likely) benign	1 lab	7a4948b5fd
16:88494918 ZNF469 G>C	16	88494918	88494918	G	C	ZNF469	c.1040G>C	NM_001367624.2	NP_001354553.1:p.(Arg347Pro)	NC_000016.9:g.88494918G>C	(Likely) benign	1 lab	7a4a3154dc
2:219679384 CYP27A1 C>T	2	219679384	219679384	C	T	CYP27A1	c.1380C>T	NM_000784.4	NP_000775.1:p.(Ile460=)	NC_000002.11:g.219679384C>T	(Likely) benign	1 lab	7a4bf54c2f
6:100838965 SIM1 G>A	6	100838965	100838965	G	A	SIM1	c.1573C>T	NM_005068.3	NP_005059.2:p.(Arg525Ter)	NC_000006.11:g.100838965G>A	VUS	1 lab	7a4f471203
17:37762452 NEUROD2 A>G	17	37762452	37762452	A	G	NEUROD2	c.401T>C	NM_006160.4	NP_006151.3:p.(Met134Thr)	NC_000017.10:g.37762452A>G	(Likely) pathogenic	1 lab	7a4f99c48e
11:2593334 KCNQ1 C>T	11	2593334	2593334	C	T	KCNQ1	c.775C>T	NM_000218.3	NP_000209.2:p.(Arg259Cys)	NC_000011.9:g.2593334C>T	(Likely) pathogenic	1 lab	7a505f57e2
5:148407313 SH3TC2 A>G	5	148407313	148407313	A	G	SH3TC2	c.1982T>C	NM_024577.4	NP_078853.2:p.(Leu661Pro)	NC_000005.9:g.148407313A>G	(Likely) pathogenic	1 lab	7a50a36e59
15:48779083 FBN1 T>C	15	48779083	48779083	T	C	FBN1	c.3589+189A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779083T>C	(Likely) benign	1 lab	7a51844e94
15:73615250 HCN4 G>T	15	73615250	73615250	G	T	HCN4	c.3184C>A	NM_005477.3	NP_005468.1:p.(Pro1062Thr)	NC_000015.9:g.73615250G>T	VUS	1 lab	7a57ec11db
12:22568812 MISSING T>Alt too long to show for this DUP	12	22568812	22882498	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.22568813_22882498dup	VUS	1 lab	7a58a3035c
X:149638102 MAMLD1 C>T	X	149638102	149638102	C	T	MAMLD1	c.257C>T	NM_005491.4	NP_005482.2:p.(Pro86Leu)	NC_000023.10:g.149638102C>T	VUS	1 lab	7a5a89117f
16:56947286 MISSING A>Alt too long to show for this DUP	16	56947286	57128535	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.56947289_57128535dup	VUS	1 lab	7a5e1f9fb2
12:122252320 SETD1B G>A	12	122252320	122252320	G	A	SETD1B	c.2199G>A	NM_001353345.2	NP_001340274.1:p.(Pro733=)	NC_000012.11:g.122252320G>A	(Likely) benign	1 lab	7a6447b14c
6:56426995 DST C>A	6	56426995	56426995	C	A	DST	c.7652G>T	NM_001144769.5	NP_001138241.1:p.(Gly2551Val)	NC_000006.11:g.56426995C>A	VUS	1 lab	7a66f39ae6
1:201338947 TNNT2 C>G	1	201338947	201338947	C	G	TNNT2	c.94G>C	NM_001276345.2	NP_001263274.1:p.(Asp32His)	NC_000001.10:g.201338947C>G	VUS	1 lab	7a68769910
9:107578559 ABCA1 C>T	9	107578559	107578559	C	T	ABCA1	c.3603G>A	NM_005502.4	NP_005493.2:p.(Gly1201=)	NC_000009.11:g.107578559C>T	(Likely) benign	1 lab	7a6f762329
16:89986221 MC1R C>T	16	89986221	89986221	C	T	MC1R	c.555C>T	NM_002386.4	NP_002377.4:p.(His185=)	NC_000016.9:g.89986221C>T	(Likely) benign	1 lab	7a70cef956
1:65847776 DNAJC6 T>Alt too long to show for this DUP	1	65847776	65864416	T	Alt too long to show for this DUP	DNAJC6	c.667-2096_2039-80dup	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65847780_65864416dup	VUS	1 lab	7a750fea60
5:33132 MISSING Ref too long to show for this DEL>C	5	33132	480518	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.33133_480518del	VUS	1 lab	7a76a9d661
2:27672981 IFT172 A>G	2	27672981	27672981	A	G	IFT172	c.3952-18T>C	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27672981A>G	(Likely) benign	1 lab	7a7a6506de
5:82816284 VCAN T>C	5	82816284	82816284	T	C	VCAN	c.2159T>C	NM_004385.5	NP_004376.2:p.(Val720Ala)	NC_000005.9:g.82816284T>C	(Likely) benign	1 lab	7a7e3c4d0e
11:108124780 ATM A>G	11	108124780	108124780	A	G	ATM	c.2124+14A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108124780A>G	(Likely) benign	1 lab	7a7eacd574
X:70444108 GJB1 C>T	X	70444108	70444108	C	T	GJB1	c.551C>T	NM_000166.6	NP_000157.1:p.(Pro184Leu)	NC_000023.10:g.70444108C>T	(Likely) pathogenic	1 lab	7a836b1e06
16:16281033 ABCC6 G>A	16	16281033	16281033	G	A	ABCC6	c.1815C>T	NM_001171.6	NP_001162.5:p.(Leu605=)	NC_000016.9:g.16281033G>A	(Likely) benign	1 lab	7a86ddcd8a
1:55526685 PCSK9 G>A	1	55526685	55526685	G	A	PCSK9	c.1682-363G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55526685G>A	(Likely) benign	1 lab	7a8781d7d1
X:69518998 KIF4A A>G	X	69518998	69518998	A	G	KIF4A	c.462A>G	NM_012310.5	NP_036442.3:p.(Pro154=)	NC_000023.10:g.69518998A>G	(Likely) benign	1 lab	7a89ce89b6
19:11233653 LDLR ATT>A	19	11233653	11233670	ATT	A	LDLR	c.2141-181_2141-180del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233669_11233670del	(Likely) benign	1 lab	7a8bb22ec5
6:87966180 ZNF292 CAG>C	6	87966180	87966182	CAG	C	ZNF292	c.2414_2415del	NM_001351444.2	NP_001338373.1:p.(Gln805ArgfsTer3)	NC_000006.11:g.87966181_87966182del	(Likely) pathogenic	1 lab	7a8cbed6ef
2:179401085 TTN G>A	2	179401085	179401085	G	A	TTN	c.100389C>T	NM_001267550.2	NP_001254479.2:p.(Tyr33463=)	NC_000002.11:g.179401085G>A	(Likely) benign	1 lab	7a8e91ba0b
12:57490895 STAT6 G>T	12	57490895	57490895	G	T	STAT6	c.2181C>A	NM_001178078.2	NP_001171549.1:p.(Pro727=)	NC_000012.11:g.57490895G>T	(Likely) benign	1 lab	7a8ff7e3c9
2:179553840 TTN C>T	2	179553840	179553840	C	T	TTN	c.32035G>A	NM_001267550.2	NP_001254479.2:p.(Val10679Ile)	NC_000002.11:g.179553840C>T	VUS	1 lab	7a94f53662
1:150525716 ADAMTSL4 C>T	1	150525716	150525716	C	T	ADAMTSL4	c.421C>T	NM_019032.6	NP_061905.2:p.(Arg141Ter)	NC_000001.10:g.150525716C>T	(Likely) pathogenic	1 lab	7a95ffa206
16:67976851 LCAT C>T	16	67976851	67976851	C	T	LCAT	c.340G>A	NM_000229.2	NP_000220.1:p.(Val114Met)	NC_000016.9:g.67976851C>T	(Likely) benign	1 lab	7a9c9b6208
16:3788685 CREBBP A>C	16	3788685	3788685	A	C	CREBBP	c.4281-12T>G	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3788685A>C	VUS	1 lab	7a9e8a2065
3:63898390 ATXN7 A>AGCAGCC	3	63898390	63898393	A	AGCAGCC	ATXN7	c.118_119insAGCCGC	NM_000333.4	NP_000324.1:p.(Gln39_Pro40insGlnPro)	NC_000003.11:g.63898392_63898393insAGCCGC	(Likely) benign	1 lab	7aa02ce77f
X:75626848 MISSING C>Alt too long to show for this DUP	X	75626848	75672614	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.75626849_75672614dup	VUS	1 lab	7aa3144cd0
22:50900919 SBF1 C>T	22	50900919	50900919	C	T	SBF1	c.2128-17G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50900919C>T	(Likely) benign	1 lab	7aa38d7574
8:38092091 DDHD2 C>T	8	38092091	38092091	C	T	DDHD2	c.400C>T	NM_015214.3	NP_056029.2:p.(Gln134Ter)	NC_000008.10:g.38092091C>T	(Likely) pathogenic	1 lab	7aa3c68bef
18:25593759 CDH2 G>A	18	25593759	25593759	G	A	CDH2	c.287C>T	NM_001792.5	NP_001783.2:p.(Ser96Phe)	NC_000018.9:g.25593759G>A	VUS	1 lab	7aa89b9fcd
15:71433910 THSD4 T>A	15	71433910	71433910	T	A	THSD4	c.29+15T>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71433910T>A	(Likely) benign	1 lab	7aa8a5b559
16:929680 LMF1 G>A	16	929680	929680	G	A	LMF1	c.388C>T	NM_001352018.2	NP_001338947.1:p.(His130Tyr)	NC_000016.9:g.929680G>A	VUS	1 lab	7aa9ea7183
19:49703879 TRPM4 GTTC>G	19	49703879	49703888	GTTC	G	TRPM4	c.2797_2799del	NM_017636.4	NP_060106.2:p.(Phe933del)	NC_000019.9:g.49703886_49703888del	(Likely) benign	1 lab	7aaaff5211
19:50335624 MED25 G>A	19	50335624	50335624	G	A	MED25	c.1434G>A	NM_030973.4	NP_112235.2:p.(Lys478=)	NC_000019.9:g.50335624G>A	(Likely) benign	1 lab	7aad719689
1:18812478 MISSING CAA>C	1	18812478	18812493	CAA	C	MISSING				NC_000001.10:g.18812492_18812493del	(Likely) benign	1 lab	dcefe53278
X:29535015 IL1RAPL1 Ref too long to show for this DEL>A	X	29535015	29646874	Ref too long to show for this DEL	A	IL1RAPL1	c.703+117591_704-39673del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29535016_29646874del	VUS	1 lab	7aae26aec1
3:38180154 MYD88 T>A	3	38180154	38180154	T	A	MYD88	c.-38T>A	NM_001172567.2	NP_001166038.2:p.?	NC_000003.11:g.38180154T>A	VUS	1 lab	7aaf8faa5a
X:85134082 CHM A>T	X	85134082	85134082	A	T	CHM	c.1511-14T>A	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85134082A>T	(Likely) benign	1 lab	7ab221c1eb
11:124742896 ROBO3 C>T	11	124742896	124742896	C	T	ROBO3	c.1447C>T	NM_022370.4	NP_071765.2:p.(Arg483Ter)	NC_000011.9:g.124742896C>T	(Likely) pathogenic	1 lab	7ab3173e86
X:129369016 ZNF280C Ref too long to show for this DEL>T	X	129369016	129376303	Ref too long to show for this DEL	T	ZNF280C	c.381+1234_771+1171del	NM_017666.5	NP_060136.1:p.?	NC_000023.10:g.129369017_129376303del	VUS	1 lab	7ab331eb65
1:25883696 LDLRAP1 G>A	1	25883696	25883696	G	A	LDLRAP1	c.397G>A	NM_015627.3	NP_056442.2:p.(Ala133Thr)	NC_000001.10:g.25883696G>A	VUS	1 lab	7ab495aea6
7:66456243 SBDS G>A	7	66456243	66456243	G	A	SBDS	c.505C>T	NM_016038.4	NP_057122.2:p.(Arg169Cys)	NC_000007.13:g.66456243G>A	(Likely) pathogenic	1 lab	7ab7c39f76
5:58899909 MISSING Ref too long to show for this DEL>C	5	58899909	65107688	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.58899910_65107688del	(Likely) pathogenic	1 lab	7ab85db3ef
6:56819391 DST G>GGGCGA	6	56819391	56819403	G	GGGCGA	DST	c.-11_-7dup	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56819399_56819403dup	(Likely) benign	1 lab	7abc247295
12:125294838 SCARB1 G>A	12	125294838	125294838	G	A	SCARB1	c.727-3C>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125294838G>A	(Likely) benign	1 lab	7abcc574a0
1:161789521 ATF6 G>A	1	161789521	161789521	G	A	ATF6	c.1008G>A	NM_007348.4	NP_031374.2:p.(Ala336=)	NC_000001.10:g.161789521G>A	(Likely) benign	1 lab	7abd3a3a60
2:44051153 ABCG5 C>T	2	44051153	44051153	C	T	ABCG5	c.1223G>A	NM_022436.3	NP_071881.1:p.(Arg408Gln)	NC_000002.11:g.44051153C>T	VUS	1 lab	7ac5c6b5d1
10:88466278 LDB3 G>A	10	88466278	88466278	G	A	LDB3	c.1101-3384G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88466278G>A	(Likely) benign	1 lab	7ac841a20a
19:49684619 TRPM4 G>A	19	49684619	49684619	G	A	TRPM4	c.1164G>A	NM_017636.4	NP_060106.2:p.(Ser388=)	NC_000019.9:g.49684619G>A	(Likely) benign	1 lab	7ac96a81ae
1:116268172 CASQ2 G>C	1	116268172	116268172	G	C	CASQ2	c.740C>G	NM_001232.4	NP_001223.2:p.(Pro247Arg)	NC_000001.10:g.116268172G>C	VUS	1 lab	7aca5dd0b5
17:42882258 GJC1 C>T	17	42882258	42882258	C	T	GJC1	c.928G>A	NM_005497.4	NP_005488.2:p.(Ala310Thr)	NC_000017.10:g.42882258C>T	(Likely) benign	1 lab	7acd935d0d
1:237801689 RYR2 A>G	1	237801689	237801689	A	G	RYR2	c.6825A>G	NM_001035.3	NP_001026.2:p.(Gln2275=)	NC_000001.10:g.237801689A>G	(Likely) benign	1 lab	7ace3e5b1e
8:62496299 ASPH A>G	8	62496299	62496299	A	G	ASPH	c.1062+204T>C	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62496299A>G	(Likely) benign	1 lab	7acf71046c
2:1667449 PXDN G>C	2	1667449	1667449	G	C	PXDN	c.1495C>G	NM_012293.3	NP_036425.1:p.(Gln499Glu)	NC_000002.11:g.1667449G>C	(Likely) benign	1 lab	7ad27fc74a
16:920584 LMF1 G>A	16	920584	920584	G	A	LMF1	c.833+145C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920584G>A	(Likely) benign	1 lab	7ad52ad9da
17:61560920 ACE G>A	17	61560920	61560920	G	A	ACE	c.1586+1G>A	NM_000789.4	NP_000780.1:p.?	NC_000017.10:g.61560920G>A	(Likely) pathogenic	1 lab	7ad5b3c494
6:32489758 HLA-DRB5 T>TGC	6	32489758	32489759	T	TGC	HLA-DRB5	c.293_294insGC	NM_002125.4	NP_002116.2:p.(Asp99GlnfsTer31)	NC_000006.11:g.32489758_32489759insGC	(Likely) benign	1 lab	7ad76e0921
1:10364328 KIF1B G>A	1	10364328	10364328	G	A	KIF1B	c.3085G>A	NM_183416.4	NP_904325.2:p.(Asp1029Asn)	NC_000001.10:g.10364328G>A	VUS	1 lab	7ada71b30d
2:21237238 APOB A>T	2	21237238	21237238	A	T	APOB	c.3842+82T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237238A>T	(Likely) benign	1 lab	7adb35c520
1:186105949 HMCN1 G>A	1	186105949	186105949	G	A	HMCN1	c.13462G>A	NM_031935.3	NP_114141.2:p.(Val4488Met)	NC_000001.10:g.186105949G>A	(Likely) benign	1 lab	7add2bea7f
7:140624391 BRAF G>A	7	140624391	140624391	G	A	BRAF	c.113C>T	NM_004333.6	NP_004324.2:p.(Ala38Val)	NC_000007.13:g.140624391G>A	VUS	1 lab	7ade31a18c
11:47362979 MYBPC3 T>C	11	47362979	47362979	T	C	MYBPC3	c.1791-184A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362979T>C	(Likely) benign	1 lab	7ae17e1e81
9:107591320 ABCA1 C>T	9	107591320	107591320	C	T	ABCA1	c.1992G>A	NM_005502.4	NP_005493.2:p.(Glu664=)	NC_000009.11:g.107591320C>T	(Likely) benign	1 lab	7ae3ccce08
16:57017555 CETP G>A	16	57017555	57017555	G	A	CETP	c.1459G>A	NM_000078.3	NP_000069.2:p.(Asp487Asn)	NC_000016.9:g.57017555G>A	(Likely) benign	1 lab	7ae5e17d37
2:238283601 COL6A3 G>A	2	238283601	238283601	G	A	COL6A3	c.3133C>T	NM_004369.4	NP_004360.2:p.(Pro1045Ser)	NC_000002.11:g.238283601G>A	VUS	1 lab	7ae6b03921
12:30814061 IPO8 C>G	12	30814061	30814061	C	G	IPO8	c.1881+14G>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30814061C>G	(Likely) benign	1 lab	7ae87842b6
19:50763889 MYH14 C>T	19	50763889	50763889	C	T	MYH14	c.2355-14C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50763889C>T	(Likely) benign	1 lab	7ae98a1cb9
5:178552197 ADAMTS2 G>A	5	178552197	178552197	G	A	ADAMTS2	c.2751-16C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178552197G>A	(Likely) benign	1 lab	7aeba3f166
11:47358064 MYBPC3 A>C	11	47358064	47358064	A	C	MYBPC3	c.2603-502T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358064A>C	(Likely) benign	1 lab	7aedd042c3
6:16145566 MYLIP C>T	6	16145566	16145566	C	T	MYLIP	c.1248+18C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16145566C>T	(Likely) benign	1 lab	7aef6a725c
8:42798572 HOOK3 C>T	8	42798572	42798572	C	T	HOOK3	c.384C>T	NM_032410.4	NP_115786.1:p.(Asn128=)	NC_000008.10:g.42798572C>T	(Likely) benign	1 lab	7af3a30565
12:11083515 PRH2 C>T	12	11083515	11083515	C	T	PRH2	c.355C>T	NM_001110213.1	NP_001103683.1:p.(Arg119Cys)	NC_000012.11:g.11083515C>T	(Likely) benign	1 lab	7af49a3760
Y:21894633 KDM5D C>CA	Y	21894633	21894648	C	CA	KDM5D	c.934-6dup	NM_001146705.2	NP_001140177.1:p.?	NC_000024.9:g.21894648dup	(Likely) benign	1 lab	7af655931e
5:95746646 PCSK1 G>A	5	95746646	95746646	G	A	PCSK1	c.927C>T	NM_000439.5	NP_000430.3:p.(Asn309=)	NC_000005.9:g.95746646G>A	(Likely) benign	1 lab	7afaed93e2
20:56234698 PMEPA1 C>A	20	56234698	56234698	C	A	PMEPA1	c.165G>T	NM_020182.5	NP_064567.2:p.(Val55=)	NC_000020.10:g.56234698C>A	(Likely) benign	1 lab	7afccc1948
2:96945231 SNRNP200 G>A	2	96945231	96945231	G	A	SNRNP200	c.5091C>T	NM_014014.5	NP_054733.2:p.(Asp1697=)	NC_000002.11:g.96945231G>A	(Likely) benign	1 lab	7afef465f1
2:128047181 ERCC3 G>T	2	128047181	128047181	G	T	ERCC3	c.657+84C>A	NM_000122.2	NP_000113.1:p.?	NC_000002.11:g.128047181G>T	(Likely) benign	1 lab	7b03a1081c
6:56504406 DST T>C	6	56504406	56504406	T	C	DST	c.2602A>G	NM_001144769.5	NP_001138241.1:p.(Thr868Ala)	NC_000006.11:g.56504406T>C	VUS	1 lab	7b03adcd4e
16:57003604 CETP A>C	16	57003604	57003604	A	C	CETP	c.439+11A>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003604A>C	(Likely) benign	1 lab	7b04486f80
19:15302649 NOTCH3 C>T	19	15302649	15302649	C	T	NOTCH3	c.709G>A	NM_000435.3	NP_000426.2:p.(Val237Met)	NC_000019.9:g.15302649C>T	(Likely) benign	1 lab	7b046943b1
4:22403143 ADGRA3 G>A	4	22403143	22403143	G	A	ADGRA3	c.2392C>T	NM_145290.4	NP_660333.2:p.(Leu798Phe)	NC_000004.11:g.22403143G>A	(Likely) benign	1 lab	7b0635ea2a
9:107649280 ABCA1 C>A	9	107649280	107649280	C	A	ABCA1	c.160+2103G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107649280C>A	(Likely) benign	1 lab	7b064067bb
12:57492996 STAT6 G>A	12	57492996	57492996	G	A	STAT6	c.1891+81C>T	NM_003153.5	NP_003144.3:p.?	NC_000012.11:g.57492996G>A	(Likely) benign	1 lab	7b0a0b685d
16:67976870 LCAT G>T	16	67976870	67976870	G	T	LCAT	c.321C>A	NM_000229.2	NP_000220.1:p.(Tyr107Ter)	NC_000016.9:g.67976870G>T	(Likely) pathogenic	1 lab	7b0a8a71ac
6:110953216 CDK19 A>G	6	110953216	110953216	A	G	CDK19	c.646+17T>C	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110953216A>G	(Likely) benign	1 lab	7b0cf1aa6e
7:75933310 HSPB1 C>G	7	75933310	75933310	C	G	HSPB1	c.438C>G	NM_001540.5	NP_001531.1:p.(Pro146=)	NC_000007.13:g.75933310C>G	(Likely) benign	1 lab	7b0d48dee7
17:29419509 NF1 A>Alt too long to show for this DUP	17	29419509	29445655	A	Alt too long to show for this DUP	NF1				NC_000017.10:g.29419514_29445655dup	VUS	1 lab	7b12ecbc7e
18:7010400 LAMA1 GTGT>G	18	7010400	7010407	GTGT	G	LAMA1	c.3688-19_3688-17del	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7010405_7010407del	(Likely) benign	1 lab	7b1384067c
16:71958786 MISSING Ref too long to show for this DEL>G	16	71958786	72000195	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.71958787_72000195del	VUS	1 lab	7b160c1744
5:178581124 ADAMTS2 C>T	5	178581124	178581124	C	T	ADAMTS2	c.1308G>A	NM_014244.5	NP_055059.2:p.(Ala436=)	NC_000005.9:g.178581124C>T	(Likely) benign	1 lab	7b16e1480c
11:64519395 PYGM C>T	11	64519395	64519395	C	T	PYGM	c.1504+1G>A	NM_001164716.1	NP_001158188.1:p.?	NC_000011.9:g.64519395C>T	(Likely) pathogenic	1 lab	7b1783cbce
19:11200075 LDLR A>G	19	11200075	11200075	A	G	LDLR				NC_000019.9:g.11200075A>G	(Likely) pathogenic	1 lab	f36ca784e6
16:68857460 CDH1 C>T	16	68857460	68857460	C	T	CDH1	c.2095C>T	NM_004360.5	NP_004351.1:p.(Gln699Ter)	NC_000016.9:g.68857460C>T	(Likely) pathogenic	1 lab	7b18e7e71d
1:112525253 KCND3 G>A	1	112525253	112525253	G	A	KCND3	c.96C>T	NM_004980.5	NP_004971.2:p.(Ala32=)	NC_000001.10:g.112525253G>A	(Likely) benign	1 lab	7b3dbbc105
15:58830668 LIPC C>T	15	58830668	58830668	C	T	LIPC	c.225C>T	NM_000236.3	NP_000227.2:p.(Cys75=)	NC_000015.9:g.58830668C>T	(Likely) benign	1 lab	7b1ce8fe6a
20:62103520 KCNQ2 C>CGA	20	62103520	62103521	C	CGA	KCNQ2	c.296_296+1insTC	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62103520_62103521insGA	(Likely) pathogenic	1 lab	7b1d67c62b
1:236922819 ACTN2 C>T	1	236922819	236922819	C	T	ACTN2	c.2302-205C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922819C>T	(Likely) benign	1 lab	7b247a0e6c
12:124265687 DNAH10 T>C	12	124265687	124265687	T	C	DNAH10	c.499T>C	NM_207437.3	NP_997320.2:p.(Ser167Pro)	NC_000012.11:g.124265687T>C	(Likely) benign	1 lab	7b2d63d675
8:117862903 RAD21 T>G	8	117862903	117862903	T	G	RAD21	c.1574A>C	NM_006265.3	NP_006256.1:p.(Lys525Thr)	NC_000008.10:g.117862903T>G	VUS	1 lab	7b30083e9a
X:70443781 GJB1 G>A	X	70443781	70443781	G	A	GJB1	c.224G>A	NM_000166.6	NP_000157.1:p.(Arg75Gln)	NC_000023.10:g.70443781G>A	(Likely) pathogenic	1 lab	7b32239139
2:179410939 TTN C>G	2	179410939	179410939	C	G	TTN	c.95119G>C	NM_001267550.2	NP_001254479.2:p.(Asp31707His)	NC_000002.11:g.179410939C>G	VUS	1 lab	7b38356cf8
7:55273306 EGFR C>T	7	55273306	55273306	C	T	EGFR	c.3629C>T	NM_005228.5	NP_005219.2:p.(Ala1210Val)	NC_000007.13:g.55273306C>T	VUS	1 lab	7b3ccc9b7d
6:135751145 AHI1 T>C	6	135751145	135751145	T	C	AHI1	c.2374-7A>G	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135751145T>C	(Likely) benign	1 lab	7b3f21900d
10:75802852 VCL G>A	10	75802852	75802852	G	A	VCL	c.180G>A	NM_014000.3	NP_054706.1:p.(Glu60=)	NC_000010.10:g.75802852G>A	(Likely) benign	1 lab	7b41c397c8
1:111827748 MISSING A>Alt too long to show for this DUP	1	111827748	111834107	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.111827750_111834107dup	VUS	1 lab	7b41c596e2
22:24108456 CHCHD10 T>G	22	24108456	24108456	T	G	CHCHD10	c.289A>C	NM_001301339.2	NP_001288268.1:p.(Thr97Pro)	NC_000022.10:g.24108456T>G	(Likely) benign	1 lab	7b43312c1a
1:19566492 EMC1 AAGG>A	1	19566492	19566502	AAGG	A	EMC1	c.787-16_787-14del	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19566500_19566502del	(Likely) benign	1 lab	7b43cd0800
3:38938451 SCN11A C>T	3	38938451	38938451	C	T	SCN11A	c.2288G>A	NM_014139.3	NP_054858.2:p.(Arg763His)	NC_000003.11:g.38938451C>T	VUS	1 lab	7b486a2e90
11:68702030 IGHMBP2 C>T	11	68702030	68702030	C	T	IGHMBP2	c.1632+4C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68702030C>T	VUS	1 lab	7b48b7482e
15:84908535 GOLGA6L4 C>T	15	84908535	84908535	C	T	GOLGA6L4	c.434-5C>T	NM_001267536.3	NP_001254465.2:p.?	NC_000015.9:g.84908535C>T	(Likely) benign	1 lab	7b4a0f6955
13:32913819 BRCA2 T>G	13	32913819	32913819	T	G	BRCA2	c.5327T>G	NM_000059.4	NP_000050.3:p.(Leu1776Trp)	NC_000013.10:g.32913819T>G	(Likely) benign	1 lab	7b529dc20d
9:98231157 PTCH1 C>T	9	98231157	98231157	C	T	PTCH1	c.2126G>A	NM_000264.5	NP_000255.2:p.(Arg709Lys)	NC_000009.11:g.98231157C>T	(Likely) benign	1 lab	7b55a6d9d3
1:161275900 MPZ G>A	1	161275900	161275900	G	A	MPZ	c.643C>T	NM_000530.8	NP_000521.2:p.(Gln215Ter)	NC_000001.10:g.161275900G>A	(Likely) pathogenic	1 lab	7b5b2ea574
18:47108802 LIPG C>T	18	47108802	47108802	C	T	LIPG	c.1107C>T	NM_006033.4	NP_006024.1:p.(Tyr369=)	NC_000018.9:g.47108802C>T	(Likely) benign	1 lab	7b5b4934a7
19:11216768 LDLR T>C	19	11216768	11216768	T	C	LDLR	c.695-473T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216768T>C	(Likely) benign	1 lab	7b5ba02ab3
X:147670167 AFF2 Ref too long to show for this DEL>A	X	147670167	147910943	Ref too long to show for this DEL	A	AFF2	c.48-63352_1087-8228del	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.147670168_147910943del	(Likely) pathogenic	1 lab	7b5fceb4cb
6:110092218 FIG4 C>Alt too long to show for this DUP	6	110092218	110146566	C	Alt too long to show for this DUP	FIG4	c.1750+4122_*98dup	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110092220_110146566dup	VUS	1 lab	7b6002f212
16:23641360 PALB2 A>G	16	23641360	23641360	A	G	PALB2	c.2115T>C	NM_024675.4	NP_078951.2:p.(Tyr705=)	NC_000016.9:g.23641360A>G	(Likely) benign	1 lab	7b63c60e1f
17:41244879 BRCA1 C>A	17	41244879	41244879	C	A	BRCA1	c.2669G>T	NM_007294.4	NP_009225.1:p.(Gly890Val)	NC_000017.10:g.41244879C>A	(Likely) benign	1 lab	7b6408e04c
12:21997400 ABCC9 G>A	12	21997400	21997400	G	A	ABCC9	c.3315+17C>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21997400G>A	(Likely) benign	1 lab	7b6529ae6a
2:197106886 HECW2 C>T	2	197106886	197106886	C	T	HECW2	c.3572G>A	NM_020760.4	NP_065811.1:p.(Arg1191Gln)	NC_000002.11:g.197106886C>T	(Likely) pathogenic	1 lab	7b66c7d08d
8:144285724 MISSING A>Alt too long to show for this DUP	8	144285724	144740225	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.144285730_144740225dup	VUS	1 lab	7b67037cf1
2:44040333 ABCG5 A>G	2	44040333	44040333	A	G	ABCG5	c.1878T>C	NM_022436.3	NP_071881.1:p.(Ile626=)	NC_000002.11:g.44040333A>G	(Likely) benign	1 lab	7b68954427
1:21896864 ALPL T>C	1	21896864	21896864	T	C	ALPL	c.859T>C	NM_000478.6	NP_000469.3:p.(Leu287=)	NC_000001.10:g.21896864T>C	(Likely) benign	1 lab	7b6bb7b860
4:158262472 GRIA2 T>C	4	158262472	158262472	T	C	GRIA2	c.1901T>C	NM_001083619.3	NP_001077088.2:p.(Ile634Thr)	NC_000004.11:g.158262472T>C	(Likely) pathogenic	1 lab	7b7400aef0
12:20682007 PDE3A Ref too long to show for this DEL>A	12	20682007	20734894	Ref too long to show for this DEL	A	PDE3A	c.961-27586_1011+25250del	NM_000921.5	NP_000912.3:p.?	NC_000012.11:g.20682008_20734894del	VUS	1 lab	7b76a07eb5
13:48807581 ITM2B AT>A	13	48807581	48807582	AT	A	ITM2B	c.86del	NM_021999.5	NP_068839.1:p.(Ile29ThrfsTer33)	NC_000013.10:g.48807582del	VUS	1 lab	7b783c2876
X:70443721 GJB1 C>T	X	70443721	70443721	C	T	GJB1	c.164C>T	NM_000166.6	NP_000157.1:p.(Thr55Ile)	NC_000023.10:g.70443721C>T	(Likely) pathogenic	1 lab	7b78c595d2
1:196654376 CFH C>T	1	196654376	196654376	C	T	CFH	c.964+9C>T	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196654376C>T	(Likely) benign	1 lab	7b7e1d84be
4:39241884 WDR19 AT>A	4	39241884	39241893	AT	A	WDR19	c.2364-4del	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39241893del	(Likely) benign	1 lab	7b7f93494d
3:179123197 GNB4 A>G	3	179123197	179123197	A	G	GNB4	c.700-3T>C	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179123197A>G	(Likely) benign	1 lab	7b805b750a
9:134203361 MISSING T>Alt too long to show for this DUP	9	134203361	134272088	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.134203363_134272088dup	VUS	1 lab	7b815ff559
2:62729606 MISSING Ref too long to show for this DEL>A	2	62729606	62760219	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.62729607_62760219del	VUS	1 lab	7b84dd8544
1:94564460 ABCA4 G>A	1	94564460	94564460	G	A	ABCA4	c.658C>T	NM_000350.3	NP_000341.2:p.(Arg220Cys)	NC_000001.10:g.94564460G>A	(Likely) pathogenic	1 lab	7b86a4b559
8:42295014 SLC20A2 C>T	8	42295014	42295014	C	T	SLC20A2	c.1016G>A	NM_001257180.2	NP_001244109.1:p.(Ser339Asn)	NC_000008.10:g.42295014C>T	(Likely) benign	1 lab	7b86cd673d
7:128494116 FLNC G>A	7	128494116	128494116	G	A	FLNC	c.6573G>A	NM_001458.5	NP_001449.3:p.(Thr2191=)	NC_000007.13:g.128494116G>A	(Likely) benign	1 lab	7b8a3a7466
10:68211550 CTNNA3 Ref too long to show for this DEL>A	10	68211550	68516578	Ref too long to show for this DEL	A	CTNNA3	c.1281+9444_1531+68824del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68211551_68516578del	VUS	1 lab	7b8ab1bedf
9:135150651 SETX A>G	9	135150651	135150651	A	G	SETX	c.7092T>C	NM_015046.7	NP_055861.3:p.(Asp2364=)	NC_000009.11:g.135150651A>G	(Likely) benign	1 lab	7b8d54a291
1:236917719 ACTN2 GAC>G	1	236917719	236917723	GAC	G	ACTN2	c.1974+341_1974+342del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236917722_236917723del	(Likely) benign	1 lab	7b9065655f
6:82461727 TENT5A ACCGCCGAAGTCGCCG>A	6	82461727	82461789	ACCGCCGAAGTCGCCG	A	TENT5A	c.117_131del	NM_017633.3	NP_060103.2:p.(Asp41_Gly45del)	NC_000006.11:g.82461775_82461789del	(Likely) benign	1 lab	7b91ab7bd3
17:41244099 BRCA1 GGT>G	17	41244099	41244103	GGT	G	BRCA1	c.3447_3448del	NM_007294.4	NP_009225.1:p.(Pro1150Ter)	NC_000017.10:g.41244102_41244103del	(Likely) pathogenic	1 lab	7b92111864
19:11215893 LDLR C>G	19	11215893	11215893	C	G	LDLR	c.314-3C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215893C>G	VUS	1 lab	7b926613d7
11:71238749 KRTAP5-7 G>GCT	11	71238749	71238750	G	GCT	KRTAP5-7	c.403_404insCT	NM_001012503.2	NP_001012521.1:p.(Gly135AlafsTer41)	NC_000011.9:g.71238749_71238750insCT	(Likely) benign	1 lab	7b9390f6d7
9:135798835 TSC1 C>G	9	135798835	135798835	C	G	TSC1	c.408G>C	NM_000368.5	NP_000359.1:p.(Leu136Phe)	NC_000009.11:g.135798835C>G	VUS	1 lab	7b93f68e12
19:11213146 LDLR AC>A	19	11213146	11213147	AC	A	LDLR	c.191-193del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213147del	(Likely) benign	1 lab	7b9456df34
19:16593395 CALR3 G>C	19	16593395	16593395	G	C	CALR3	c.787-3C>G	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16593395G>C	VUS	1 lab	7b99bd2367
15:73615777 HCN4 G>A	15	73615777	73615777	G	A	HCN4	c.2657C>T	NM_005477.3	NP_005468.1:p.(Ala886Val)	NC_000015.9:g.73615777G>A	(Likely) benign	1 lab	7b9aabd9bc
7:55225403 EGFR G>A	7	55225403	55225403	G	A	EGFR	c.1255G>A	NM_005228.5	NP_005219.2:p.(Ala419Thr)	NC_000007.13:g.55225403G>A	VUS	1 lab	7e5ab6acea
12:32552769 FGD4 C>G	12	32552769	32552769	C	G	FGD4	c.42C>G	NM_001370298.3	NP_001357227.2:p.(Ile14Met)	NC_000012.11:g.32552769C>G	(Likely) benign	1 lab	7b9f1fd50c
2:30143264 ALK G>T	2	30143264	30143264	G	T	ALK	c.262C>A	NM_004304.5	NP_004295.2:p.(Arg88Ser)	NC_000002.11:g.30143264G>T	(Likely) benign	1 lab	7b9fd5b571
1:3334497 PRDM16 C>T	1	3334497	3334497	C	T	PRDM16	c.2797C>T	NM_022114.4	NP_071397.3:p.(Arg933Trp)	NC_000001.10:g.3334497C>T	VUS	1 lab	7ba5b39d0e
18:29101215 DSG2 CTTT>C	18	29101215	29101230	CTTT	C	DSG2	c.523+22_523+24del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101228_29101230del	(Likely) benign	1 lab	7ba5d6ee70
2:21250830 APOB G>A	2	21250830	21250830	G	A	APOB	c.1937C>T	NM_000384.3	NP_000375.3:p.(Pro646Leu)	NC_000002.11:g.21250830G>A	(Likely) benign	1 lab	7ba9aa882c
15:44944221 SPG11 T>TA	15	44944221	44944232	T	TA	SPG11	c.1008-85dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44944232dup	(Likely) benign	1 lab	7bab01bb71
3:167510358 SERPINI1 A>G	3	167510358	167510358	A	G	SERPINI1	c.482-20A>G	NM_005025.5	NP_005016.1:p.?	NC_000003.11:g.167510358A>G	(Likely) benign	1 lab	7bab8c7f61
2:121747075 GLI2 T>TGG	2	121747075	121747080	T	TGG	GLI2	c.3589_3590dup	NM_001371271.1	NP_001358200.1:p.(Leu1198AlafsTer23)	NC_000002.11:g.121747079_121747080dup	(Likely) pathogenic	1 lab	7bad460976
11:65321697 LTBP3 C>T	11	65321697	65321697	C	T	LTBP3	c.486G>A	NM_001130144.3	NP_001123616.1:p.(Gly162=)	NC_000011.9:g.65321697C>T	(Likely) benign	1 lab	7bad579a56
7:128475393 FLNC C>T	7	128475393	128475393	C	T	FLNC	c.366C>T	NM_001458.5	NP_001449.3:p.(Ile122=)	NC_000007.13:g.128475393C>T	(Likely) benign	1 lab	7bad9dc09e
3:195507982 MUC4 T>G	3	195507982	195507982	T	G	MUC4	c.10469A>C	NM_018406.7	NP_060876.5:p.(His3490Pro)	NC_000003.11:g.195507982T>G	(Likely) benign	1 lab	7bae040a6c
14:51026973 ATL1 C>T	14	51026973	51026973	C	T	ATL1	c.-11C>T	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51026973C>T	(Likely) benign	1 lab	7bafcc77eb
10:48413729 GDF2 A>G	10	48413729	48413729	A	G	GDF2	c.1139T>C	NM_016204.4	NP_057288.1:p.(Val380Ala)	NC_000010.10:g.48413729A>G	(Likely) benign	1 lab	7bb0740c32
11:68696697 IGHMBP2 C>G	11	68696697	68696697	C	G	IGHMBP2	c.1107C>G	NM_002180.3	NP_002171.2:p.(Phe369Leu)	NC_000011.9:g.68696697C>G	(Likely) pathogenic	1 lab	7bb08e54d8
2:179468696 TTN C>T	2	179468696	179468696	C	T	TTN	c.54718G>A	NM_001267550.2	NP_001254479.2:p.(Val18240Ile)	NC_000002.11:g.179468696C>T	VUS	1 lab	7bb6cd9abe
7:144364918 TPK1 G>T	7	144364918	144364918	G	T	TPK1	c.71C>A	NM_001350882.1	NP_001337811.1:p.(Ser24Ter)	NC_000007.13:g.144364918G>T	(Likely) benign	1 lab	7bb8386043
15:45439651 DUOX1 C>T	15	45439651	45439651	C	T	DUOX1	c.2343C>T	NM_017434.5	NP_059130.2:p.(Ala781=)	NC_000015.9:g.45439651C>T	(Likely) benign	1 lab	7bb9c09fcf
6:43521127 XPO5 G>A	6	43521127	43521127	G	A	XPO5	c.1555C>T	NM_020750.3	NP_065801.1:p.(Arg519Ter)	NC_000006.11:g.43521127G>A	VUS	1 lab	7bb9c48f61
16:70287644 AARS1 C>T	16	70287644	70287644	C	T	AARS1	c.2580G>A	NM_001605.3	NP_001596.2:p.(Leu860=)	NC_000016.9:g.70287644C>T	(Likely) benign	1 lab	7bbd17fdd4
15:31197407 FAN1 C>A	15	31197407	31197407	C	A	FAN1	c.541C>A	NM_014967.5	NP_055782.3:p.(Pro181Thr)	NC_000015.9:g.31197407C>A	VUS	1 lab	7bbef54625
9:135224735 SETX G>A	9	135224735	135224735	G	A	SETX	c.81C>T	NM_015046.7	NP_055861.3:p.(Ser27=)	NC_000009.11:g.135224735G>A	(Likely) benign	1 lab	7bc2e2a5dd
1:74801742 FPGT-TNNI3K T>C	1	74801742	74801742	T	C	FPGT-TNNI3K	c.894T>C	NM_001112808.3	NP_001106279.3:p.(Gly298=)	NC_000001.10:g.74801742T>C	(Likely) benign	1 lab	7bc4a9829d
2:179639867 TTN T>C	2	179639867	179639867	T	C	TTN	c.6571A>G	NM_001267550.2	NP_001254479.2:p.(Met2191Val)	NC_000002.11:g.179639867T>C	VUS	1 lab	7bc5061230
16:84311763 MISSING Ref too long to show for this DEL>C	16	84311763	84463525	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.84311764_84463525del	VUS	1 lab	7bcda4dafd
11:2606526 KCNQ1 T>C	11	2606526	2606526	T	C	KCNQ1	c.1117T>C	NM_000218.3	NP_000209.2:p.(Ser373Pro)	NC_000011.9:g.2606526T>C	(Likely) pathogenic	1 lab	7bcdd02976
11:47365457 MYBPC3 G>A	11	47365457	47365457	G	A	MYBPC3	c.1091-282C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365457G>A	(Likely) benign	1 lab	7bcea67a72
11:68702753 IGHMBP2 G>A	11	68702753	68702753	G	A	IGHMBP2	c.1633-14G>A	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68702753G>A	VUS	1 lab	7bd5dccc80
15:58724236 LIPC A>T	15	58724236	58724236	A	T	LIPC	c.5A>T	NM_000236.3	NP_000227.2:p.(Asp2Val)	NC_000015.9:g.58724236A>T	VUS	1 lab	7bd649aa08
1:17316708 ATP13A2 C>G	1	17316708	17316708	C	G	ATP13A2	c.2326G>C	NM_022089.4	NP_071372.1:p.(Val776Leu)	NC_000001.10:g.17316708C>G	(Likely) benign	1 lab	7bd6f4e8fc
3:129249884 RHO C>T	3	129249884	129249884	C	T	RHO	c.527C>T	NM_000539.3	NP_000530.1:p.(Ser176Phe)	NC_000003.11:g.129249884C>T	(Likely) pathogenic	1 lab	7bd7116434
18:77475187 CTDP1 T>TGGA	18	77475187	77475208	T	TGGA	CTDP1	c.1746_1748dup	NM_004715.5	NP_004706.3:p.(Glu582dup)	NC_000018.9:g.77475206_77475208dup	(Likely) benign	1 lab	7bd819b9ea
2:21229891 APOB G>A	2	21229891	21229891	G	A	APOB	c.9849C>T	NM_000384.3	NP_000375.3:p.(Phe3283=)	NC_000002.11:g.21229891G>A	(Likely) benign	1 lab	7bda9073c2
19:11217228 LDLR T>C	19	11217228	11217228	T	C	LDLR	c.695-13T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217228T>C	(Likely) benign	1 lab	7bdc1f8e6f
1:161276600 MPZ T>G	1	161276600	161276600	T	G	MPZ	c.346A>C	NM_000530.8	NP_000521.2:p.(Asn116His)	NC_000001.10:g.161276600T>G	(Likely) pathogenic	1 lab	7be1548ca9
15:34546567 SLC12A6 AAAG>A	15	34546567	34546574	AAAG	A	SLC12A6	c.1097_1099del	NM_133647.2	NP_598408.1:p.(Ser366del)	NC_000015.9:g.34546572_34546574del	VUS	1 lab	7be31a8dcd
6:143094681 HIVEP2 C>G	6	143094681	143094681	C	G	HIVEP2	c.1195G>C	NM_006734.4	NP_006725.3:p.(Gly399Arg)	NC_000006.11:g.143094681C>G	(Likely) pathogenic	1 lab	7be4fcc838
8:22053063 BMP1 C>T	8	22053063	22053063	C	T	BMP1	c.1728C>T	NM_006129.5	NP_006120.1:p.(Pro576=)	NC_000008.10:g.22053063C>T	(Likely) benign	1 lab	7be502b4e7
15:48779635 FBN1 C>T	15	48779635	48779635	C	T	FBN1	c.3338-1G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779635C>T	(Likely) pathogenic	1 lab	7be67b7410
2:1544462 TPO ACCGCAGCGGG>A	2	1544462	1544479	ACCGCAGCGGG	A	TPO	c.2723_2732del	NM_000547.6	NP_000538.3:p.(Arg908LeufsTer63)	NC_000002.11:g.1544470_1544479del	(Likely) pathogenic	1 lab	7be728922e
22:46932777 CELSR1 G>C	22	46932777	46932777	G	C	CELSR1	c.291C>G	NM_001378328.1	NP_001365257.1:p.(Ala97=)	NC_000022.10:g.46932777G>C	(Likely) benign	1 lab	7be83e5ef0
5:42718594 GHR C>T	5	42718594	42718594	C	T	GHR	c.985C>T	NM_001242400.2	NP_001229329.1:p.(His329Tyr)	NC_000005.9:g.42718594C>T	VUS	1 lab	7beb6104df
6:33414487 SYNGAP1 C>G	6	33414487	33414487	C	G	SYNGAP1	c.3718C>G	NM_006772.3	NP_006763.2:p.(Arg1240Gly)	NC_000006.11:g.33414487C>G	VUS	1 lab	7bebde19c2
5:60792988 MISSING T>Alt too long to show for this DUP	5	60792988	60890206	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.60792989_60890206dup	VUS	1 lab	7becd25091
8:134251333 NDRG1 G>T	8	134251333	134251333	G	T	NDRG1	c.973C>A	NM_001135242.2	NP_001128714.1:p.(Arg325=)	NC_000008.10:g.134251333G>T	(Likely) benign	1 lab	7bed6ee2fb
9:107593192 ABCA1 T>G	9	107593192	107593192	T	G	ABCA1	c.1892+14A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593192T>G	(Likely) benign	1 lab	7bee88a4d6
1:236911381 ACTN2 G>A	1	236911381	236911381	G	A	ACTN2	c.1515+306G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236911381G>A	(Likely) benign	1 lab	7bf29fd2ae
5:147813317 FBXO38 ATAT>A	5	147813317	147813323	ATAT	A	FBXO38	c.2857+21_2857+23del	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147813321_147813323del	(Likely) benign	1 lab	7bf49d0162
9:107594002 ABCA1 G>A	9	107594002	107594002	G	A	ABCA1	c.1616C>T	NM_005502.4	NP_005493.2:p.(Thr539Ile)	NC_000009.11:g.107594002G>A	VUS	1 lab	7bf765a43c
2:32323909 SPAST G>A	2	32323909	32323909	G	A	SPAST	c.631G>A	NM_014946.4	NP_055761.2:p.(Val211Ile)	NC_000002.11:g.32323909G>A	VUS	1 lab	7bf8508775
6:65733132 EYS A>Alt too long to show for this DUP	6	65733132	65865554	A	Alt too long to show for this DUP	EYS	c.2024-97932_2138-25537dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65733135_65865554dup	VUS	1 lab	7bf990fe2d
2:179495629 TTN C>T	2	179495629	179495629	C	T	TTN	c.44056G>A	NM_001267550.2	NP_001254479.2:p.(Val14686Met)	NC_000002.11:g.179495629C>T	VUS	1 lab	7bfbce7dfa
2:21232561 APOB C>G	2	21232561	21232561	C	G	APOB	c.7179G>C	NM_000384.3	NP_000375.3:p.(Leu2393Phe)	NC_000002.11:g.21232561C>G	VUS	1 lab	7bfcbbae26
1:3322073 PRDM16 C>T	1	3322073	3322073	C	T	PRDM16	c.1047C>T	NM_022114.4	NP_071397.3:p.(Pro349=)	NC_000001.10:g.3322073C>T	(Likely) benign	1 lab	7c14459f75
2:113478298 MISSING C>Alt too long to show for this DUP	2	113478298	113541163	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.113478299_113541163dup	VUS	1 lab	7bfe089d04
1:237806708 RYR2 G>T	1	237806708	237806708	G	T	RYR2	c.7303G>T	NM_001035.3	NP_001026.2:p.(Val2435Phe)	NC_000001.10:g.237806708G>T	(Likely) pathogenic	1 lab	7c0511ccbf
8:100833726 VPS13B A>G	8	100833726	100833726	A	G	VPS13B	c.9258+16A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100833726A>G	(Likely) benign	1 lab	7c05a8829a
10:53750203 PRKG1 Ref too long to show for this DEL>C	10	53750203	53806003	Ref too long to show for this DEL	C	PRKG1	c.763-64040_763-8241del	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53750204_53806003del	VUS	1 lab	7c08d1a259
12:21329834 SLCO1B1 A>T	12	21329834	21329834	A	T	SLCO1B1	c.481+3A>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329834A>T	(Likely) benign	1 lab	7c0dca9290
7:27147623 HOXA3 C>T	7	27147623	27147623	C	T	HOXA3	c.1243G>A	NM_153631.3	NP_705895.1:p.(Gly415Arg)	NC_000007.13:g.27147623C>T	(Likely) benign	1 lab	7c0e8e3534
2:108626674 SLC5A7 G>C	2	108626674	108626674	G	C	SLC5A7	c.1114-14G>C	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108626674G>C	(Likely) benign	1 lab	7c10f3629a
17:39912096 JUP G>A	17	39912096	39912096	G	A	JUP	c.2138C>T	NM_001352773.2	NP_001339702.1:p.(Pro713Leu)	NC_000017.10:g.39912096G>A	VUS	1 lab	7c12a4067c
X:135290716 FHL1 G>T	X	135290716	135290716	G	T	FHL1	c.604G>T	NM_001159704.1	NP_001153176.1:p.(Ala202Ser)	NC_000023.10:g.135290716G>T	VUS	1 lab	7c160a26aa
15:48791218 FBN1 A>C	15	48791218	48791218	A	C	FBN1	c.2131T>G	NM_000138.5	NP_000129.3:p.(Cys711Gly)	NC_000015.9:g.48791218A>C	(Likely) pathogenic	1 lab	7c1eca5d15
11:116706784 APOA1 C>T	11	116706784	116706784	C	T	APOA1	c.217G>A	NM_001318021.1	NP_001304950.1:p.(Ala73Thr)	NC_000011.9:g.116706784C>T	VUS	1 lab	7c1f40d072
X:19375821 PDHA1 A>G	X	19375821	19375821	A	G	PDHA1	c.997A>G	NM_001173454.2	NP_001166925.1:p.(Ser333Gly)	NC_000023.10:g.19375821A>G	VUS	1 lab	7c3181b8b5
17:34822465 MISSING Ref too long to show for this DEL>C	17	34822465	36350598	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.34822466_36350598del	(Likely) pathogenic	1 lab	7c20acca23
1:55529228 PCSK9 C>G	1	55529228	55529228	C	G	PCSK9	c.2050C>G	NM_174936.4	NP_777596.2:p.(Leu684Val)	NC_000001.10:g.55529228C>G	VUS	1 lab	7c21f31b13
8:61693617 CHD7 G>C	8	61693617	61693617	G	C	CHD7	c.1724G>C	NM_017780.4	NP_060250.2:p.(Gly575Ala)	NC_000008.10:g.61693617G>C	VUS	1 lab	7c24e714cd
2:179397429 TTN C>T	2	179397429	179397429	C	T	TTN	c.103913G>A	NM_001267550.2	NP_001254479.2:p.(Arg34638His)	NC_000002.11:g.179397429C>T	VUS	1 lab	7c24fe6ed2
2:27695154 IFT172 G>C	2	27695154	27695154	G	C	IFT172	c.1487C>G	NM_015662.3	NP_056477.1:p.(Thr496Ser)	NC_000002.11:g.27695154G>C	VUS	1 lab	7c26dc402d
19:11200309 LDLR C>A	19	11200309	11200309	C	A	LDLR	c.67+18C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200309C>A	(Likely) benign	1 lab	7c855eea19
11:88911727 TYR T>G	11	88911727	88911727	T	G	TYR	c.606T>G	NM_000372.5	NP_000363.1:p.(His202Gln)	NC_000011.9:g.88911727T>G	(Likely) pathogenic	1 lab	7c2868c1c8
14:23883032 MYH7 C>T	14	23883032	23883032	C	T	MYH7	c.5726G>A	NM_000257.4	NP_000248.2:p.(Arg1909Gln)	NC_000014.8:g.23883032C>T	VUS	1 lab	7c2b654318
2:167060860 SCN9A A>AT	2	167060860	167060867	A	AT	SCN9A	c.4470+9dup	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060867dup	(Likely) benign	1 lab	7c2f9f462e
1:6038319 NPHP4 C>T	1	6038319	6038319	C	T	NPHP4	c.279+11G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6038319C>T	(Likely) benign	1 lab	7c2fa4de67
2:191841625 STAT1 A>G	2	191841625	191841625	A	G	STAT1	c.2006T>C	NM_001384881.1	NP_001371810.1:p.(Leu669Pro)	NC_000002.11:g.191841625A>G	VUS	1 lab	7c30a2b3a2
8:133053950 OC90 T>G	8	133053950	133053950	T	G	OC90	c.170-4A>C	NM_001080399.3	NP_001073868.2:p.?	NC_000008.10:g.133053950T>G	(Likely) benign	1 lab	7c30afc6ec
18:34359433 FHOD3 C>A	18	34359433	34359433	C	A	FHOD3	c.4809C>A	NM_001281740.3	NP_001268669.1:p.(Gly1603=)	NC_000018.9:g.34359433C>A	(Likely) benign	1 lab	7c31b4b15a
4:190876305 FRG1 A>T	4	190876305	190876305	A	T	FRG1	c.431A>T	NM_004477.3	NP_004468.1:p.(Asn144Ile)	NC_000004.11:g.190876305A>T	(Likely) benign	1 lab	7c3831a824
7:128486026 FLNC G>A	7	128486026	128486026	G	A	FLNC	c.3791-18G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486026G>A	(Likely) benign	1 lab	7c3a35df5e
10:12159764 DHTKD1 G>C	10	12159764	12159764	G	C	DHTKD1	c.2402+10G>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12159764G>C	(Likely) benign	1 lab	7c3afbaab5
3:98569046 MISSING Ref too long to show for this DEL>C	3	98569046	98623068	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.98569048_98623068del	VUS	1 lab	7c3c9e1202
19:11218189 LDLR C>G	19	11218189	11218189	C	G	LDLR	c.939C>G	NM_000527.5	NP_000518.1:p.(Cys313Trp)	NC_000019.9:g.11218189C>G	(Likely) pathogenic	1 lab	7c40844bab
6:149827270 MISSING Ref too long to show for this DEL>A	6	149827270	149892827	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.149827272_149892827del	VUS	1 lab	7c410c2136
7:101219457 MISSING T>Alt too long to show for this DUP	7	101219457	101284564	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.101219458_101284564dup	VUS	1 lab	7c41563449
14:38583503 MISSING A>Alt too long to show for this DUP	14	38583503	38744193	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.38583507_38744193dup	VUS	1 lab	7c46a88e7e
14:23891500 MYH7 C>A	14	23891500	23891500	C	A	MYH7	c.3134G>T	NM_000257.4	NP_000248.2:p.(Arg1045Leu)	NC_000014.8:g.23891500C>A	VUS	1 lab	7c47c97f7e
2:179439278 TTN A>G	2	179439278	179439278	A	G	TTN	c.71581T>C	NM_001267550.2	NP_001254479.2:p.(Tyr23861His)	NC_000002.11:g.179439278A>G	VUS	1 lab	7c4bc84850
17:15134268 PMP22 C>T	17	15134268	15134268	C	T	PMP22	c.449G>A	NM_000304.4	NP_000295.1:p.(Gly150Asp)	NC_000017.10:g.15134268C>T	(Likely) pathogenic	1 lab	7c4beca6ba
19:11242658 LDLR T>C	19	11242658	11242658	T	C	LDLR	c.*666T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242658T>C	(Likely) benign	1 lab	7c4dc3de92
15:64011104 HERC1 T>C	15	64011104	64011104	T	C	HERC1	c.3743-8A>G	NM_003922.4	NP_003913.3:p.?	NC_000015.9:g.64011104T>C	(Likely) benign	1 lab	7c4f77e062
8:117875449 RAD21 C>T	8	117875449	117875449	C	T	RAD21	c.194G>A	NM_006265.3	NP_006256.1:p.(Arg65Gln)	NC_000008.10:g.117875449C>T	(Likely) pathogenic	1 lab	7c4fb8ae68
3:8775590 CAV3 G>A	3	8775590	8775590	G	A	CAV3	c.28G>A	NM_033337.3	NP_203123.1:p.(Glu10Lys)	NC_000003.11:g.8775590G>A	VUS	1 lab	7c52510cfb
2:216246750 FN1 Ref too long to show for this DEL>T	2	216246750	216300364	Ref too long to show for this DEL	T	FN1	c.148+15_5164+184del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216246752_216300364del	VUS	1 lab	7c5478be67
10:88476372 LDB3 C>A	10	88476372	88476372	C	A	LDB3	c.1190C>A	NM_001080114.2	NP_001073583.1:p.(Thr397Asn)	NC_000010.10:g.88476372C>A	VUS	1 lab	7c557591c8
16:67973993 LCAT G>A	16	67973993	67973993	G	A	LCAT	c.1137C>T	NM_000229.2	NP_000220.1:p.(Leu379=)	NC_000016.9:g.67973993G>A	(Likely) benign	1 lab	7c57bda00c
14:75558126 NEK9 C>G	14	75558126	75558126	C	G	NEK9	c.2289G>C	NM_033116.6	NP_149107.4:p.(Glu763Asp)	NC_000014.8:g.75558126C>G	VUS	1 lab	7c5848c69b
2:167094764 SCN9A A>G	2	167094764	167094764	A	G	SCN9A	c.3608T>C	NM_002977.3	NP_002968.1:p.(Ile1203Thr)	NC_000002.11:g.167094764A>G	VUS	1 lab	7c5afb2032
10:123279599 FGFR2 C>T	10	123279599	123279599	C	T	FGFR2	c.833G>A	NM_022970.3	NP_075259.4:p.(Cys278Tyr)	NC_000010.10:g.123279599C>T	(Likely) pathogenic	1 lab	7c73d6eed9
6:99374938 FBXL4 T>TAAAAAAAAA	6	99374938	99374946	T	TAAAAAAAAA	FBXL4	c.-72-3_-72-2insTTTTTTTTT	NM_001278716.2	NP_001265645.1:p.?	NC_000006.11:g.99374945_99374946insAAAAAAAAA	(Likely) benign	1 lab	7c5e47e5ce
9:2129742 MISSING G>Alt too long to show for this DUP	9	2129742	2204946	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.2129744_2204946dup	VUS	1 lab	7c5ea95c13
1:146466176 NBPF14 C>G	1	146466176	146466176	C	G	NBPF14	c.*55=	NM_015383.2	NP_056198.2:p.?	NC_000001.10:g.146466176C>G	(Likely) benign	1 lab	7c5f348d03
16:31195544 FUS C>T	16	31195544	31195544	C	T	FUS	c.347C>T	NM_001170634.1	NP_001164105.1:p.(Ser116Phe)	NC_000016.9:g.31195544C>T	VUS	1 lab	7c5f73ed3b
2:179451887 TTN G>A	2	179451887	179451887	G	A	TTN	c.64051C>T	NM_001267550.2	NP_001254479.2:p.(Pro21351Ser)	NC_000002.11:g.179451887G>A	VUS	1 lab	7c5f969585
4:100532606 MTTP G>C	4	100532606	100532606	G	C	MTTP	c.1985G>C	NM_000253.4	NP_000244.2:p.(Ser662Thr)	NC_000004.11:g.100532606G>C	VUS	1 lab	7c6df7c371
2:179605556 TTN T>C	2	179605556	179605556	T	C	TTN	c.12404A>G	NM_001267550.2	NP_001254479.2:p.(Asn4135Ser)	NC_000002.11:g.179605556T>C	(Likely) benign	1 lab	7c6e1dc000
16:90001720 TUBB3 C>T	16	90001720	90001720	C	T	TUBB3	c.645C>T	NM_001197181.2	NP_001184110.1:p.(Pro215=)	NC_000016.9:g.90001720C>T	(Likely) benign	1 lab	7c6e284b6c
1:40779860 COL9A2 G>A	1	40779860	40779860	G	A	COL9A2	c.249+17C>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40779860G>A	(Likely) benign	1 lab	7c6e90c1a8
3:30715359 TGFBR2 C>G	3	30715359	30715359	C	G	TGFBR2	c.1255-238C>G	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30715359C>G	(Likely) benign	1 lab	7c6f08019c
1:161277088 MPZ G>T	1	161277088	161277088	G	T	MPZ	c.194C>A	NM_000530.8	NP_000521.2:p.(Thr65Asn)	NC_000001.10:g.161277088G>T	(Likely) pathogenic	1 lab	7c6f7ebc26
1:25870254 LDLRAP1 G>C	1	25870254	25870254	G	C	LDLRAP1	c.65G>C	NM_015627.3	NP_056442.2:p.(Trp22Ser)	NC_000001.10:g.25870254G>C	VUS	1 lab	7c70b12d7a
20:31473428 EFCAB8 G>A	20	31473428	31473428	G	A	EFCAB8	c.549G>A	NM_001143967.1	NP_001137439.1:p.(Ser183=)	NC_000020.10:g.31473428G>A	(Likely) benign	1 lab	7c7350464a
15:73617477 HCN4 C>T	15	73617477	73617477	C	T	HCN4	c.1797G>A	NM_005477.3	NP_005468.1:p.(Ala599=)	NC_000015.9:g.73617477C>T	(Likely) benign	1 lab	7c74da10d8
X:74697084 ZDHHC15 T>Alt too long to show for this DUP	X	74697084	74720986	T	Alt too long to show for this DUP	ZDHHC15	c.163+4671_258+1641dup	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74697086_74720986dup	VUS	1 lab	7c771cd4f1
15:45391661 DUOX2 G>A	15	45391661	45391661	G	A	DUOX2	c.3435C>T	NM_014080.5	NP_054799.4:p.(His1145=)	NC_000015.9:g.45391661G>A	(Likely) benign	1 lab	7c7871d081
3:50683655 MAPKAPK3 C>T	3	50683655	50683655	C	T	MAPKAPK3	c.789C>T	NM_001243926.2	NP_001230855.1:p.(Tyr263=)	NC_000003.11:g.50683655C>T	(Likely) benign	1 lab	7c79f8867c
17:78084553 GAA G>A	17	78084553	78084553	G	A	GAA	c.1465G>A	NM_000152.5	NP_000143.2:p.(Asp489Asn)	NC_000017.10:g.78084553G>A	(Likely) pathogenic	1 lab	7c7a2a8a68
6:118880233 PLN T>C	6	118880233	118880233	T	C	PLN	c.149T>C	NM_002667.5	NP_002658.1:p.(Met50Thr)	NC_000006.11:g.118880233T>C	VUS	1 lab	7c7c68ff6c
3:97868754 OR5H14 A>C	3	97868754	97868754	A	C	OR5H14	c.525A>C	NM_001005514.2	NP_001005514.1:p.(Gln175His)	NC_000003.11:g.97868754A>C	(Likely) benign	1 lab	7c7c7fc74c
12:6950731 GNB3 A>G	12	6950731	6950731	A	G	GNB3	c.58-19A>G	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6950731A>G	(Likely) benign	1 lab	7c7d7dc302
11:108155159 ATM G>T	11	108155159	108155159	G	T	ATM	c.3952G>T	NM_000051.4	NP_000042.3:p.(Val1318Phe)	NC_000011.9:g.108155159G>T	VUS	1 lab	7c7f94bd5f
17:8192202 SLC25A35 C>G	17	8192202	8192202	C	G	SLC25A35	c.*732G>C	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192202C>G	(Likely) benign	1 lab	7c800686f0
2:179395132 TTN C>T	2	179395132	179395132	C	T	TTN	c.106210G>A	NM_001267550.2	NP_001254479.2:p.(Val35404Ile)	NC_000002.11:g.179395132C>T	VUS	1 lab	7c84cdf628
16:23649378 PALB2 A>ACGATTCACTTACCTGAAGGCGGGCTAGTGTCTTGC	16	23649378	23649413	A	ACGATTCACTTACCTGAAGGCGGGCTAGTGTCTTGC	PALB2	c.86_108+12dup	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649379_23649413dup	VUS	1 lab	7c858e4acc
1:94528253 ABCA4 C>T	1	94528253	94528253	C	T	ABCA4	c.1817G>A	NM_000350.3	NP_000341.2:p.(Gly606Asp)	NC_000001.10:g.94528253C>T	VUS	1 lab	7c86c974e9
19:12760724 MAN2B1 C>G	19	12760724	12760724	C	G	MAN2B1	c.2267+3G>C	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12760724C>G	(Likely) benign	1 lab	7c872b3ae2
7:34651017 NPSR1-AS1 Ref too long to show for this DEL>A	7	34651017	34859776	Ref too long to show for this DEL	A	NPSR1-AS1				NC_000007.13:g.34651018_34859776del	VUS	1 lab	7c8814b2fd
16:71805159 AP1G1 T>TA	16	71805159	71805160	T	TA	AP1G1	c.469-5_469-4insT	NM_001030007.2	NP_001025178.1:p.?	NC_000016.9:g.71805159_71805160insA	(Likely) benign	1 lab	7c8844f454
3:167507089 SERPINI1 G>A	3	167507089	167507089	G	A	SERPINI1	c.173G>A	NM_005025.5	NP_005016.1:p.(Gly58Glu)	NC_000003.11:g.167507089G>A	VUS	1 lab	7c8a7995d0
2:24980893 NCOA1 A>G	2	24980893	24980893	A	G	NCOA1	c.3933A>G	NM_001362950.1	NP_001349879.1:p.(Val1311=)	NC_000002.11:g.24980893A>G	(Likely) benign	1 lab	7c8b279fe3
7:92146860 PEX1 A>G	7	92146860	92146860	A	G	PEX1	c.345T>C	NM_001282678.2	NP_001269607.1:p.(Asp115=)	NC_000007.13:g.92146860A>G	(Likely) benign	1 lab	7c8c11f797
22:42431358 MISSING Ref too long to show for this DEL>G	22	42431358	44120175	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.42431359_44120175del	(Likely) pathogenic	1 lab	7c8df0bd92
5:82833977 VCAN A>T	5	82833977	82833977	A	T	VCAN	c.5155A>T	NM_004385.5	NP_004376.2:p.(Thr1719Ser)	NC_000005.9:g.82833977A>T	(Likely) benign	1 lab	7c8ef22a13
2:179518927 MISSING Ref too long to show for this DEL>A	2	179518927	180311504	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.179518928_180311504del	(Likely) pathogenic	1 lab	7c90d1d5b6
1:3328183 PRDM16 C>T	1	3328183	3328183	C	T	PRDM16	c.1422C>T	NM_022114.4	NP_071397.3:p.(Pro474=)	NC_000001.10:g.3328183C>T	(Likely) benign	1 lab	7c9650d3ce
22:50903280 SBF1 C>T	22	50903280	50903280	C	T	SBF1	c.1399G>A	NM_002972.4	NP_002963.2:p.(Val467Ile)	NC_000022.10:g.50903280C>T	VUS	1 lab	7c969c7163
12:2791120 CACNA1C A>AG	12	2791120	2791122	A	AG	CACNA1C	c.5595dup	NM_199460.4	NP_955630.3:p.(His1866AlafsTer6)	NC_000012.11:g.2791122dup	VUS	1 lab	7c98213604
2:44051118 ABCG5 C>T	2	44051118	44051118	C	T	ABCG5	c.1258G>A	NM_022436.3	NP_071881.1:p.(Val420Ile)	NC_000002.11:g.44051118C>T	VUS	1 lab	7c99f86731
2:189871578 COL3A1 A>T	2	189871578	189871578	A	T	COL3A1	c.3202-85A>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871578A>T	(Likely) benign	1 lab	7c9a5427b4
7:6035194 PMS2 T>A	7	6035194	6035194	T	A	PMS2	c.874A>T	NM_000535.7	NP_000526.2:p.(Ile292Phe)	NC_000007.13:g.6035194T>A	VUS	1 lab	7ca178dd34
3:71026789 FOXP1 C>G	3	71026789	71026789	C	G	FOXP1	c.1425+5G>C	NM_001244808.3	NP_001231737.1:p.?	NC_000003.11:g.71026789C>G	VUS	1 lab	7ca212e07f
11:66278475 BBS1 C>A	11	66278475	66278475	C	A	BBS1	c.48-9C>A	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66278475C>A	VUS	1 lab	7ca5aa9ae3
5:127670946 FBN2 C>T	5	127670946	127670946	C	T	FBN2	c.3889G>A	NM_001999.4	NP_001990.2:p.(Gly1297Ser)	NC_000005.9:g.127670946C>T	(Likely) pathogenic	1 lab	7ca64055cb
8:22054266 BMP1 C>A	8	22054266	22054266	C	A	BMP1	c.1839C>A	NM_006129.5	NP_006120.1:p.(Pro613=)	NC_000008.10:g.22054266C>A	(Likely) benign	1 lab	7ca64cea09
15:85403027 ALPK3 C>T	15	85403027	85403027	C	T	ALPK3	c.3986C>T	NM_020778.5	NP_065829.4:p.(Ala1329Val)	NC_000015.9:g.85403027C>T	VUS	1 lab	7ca9314a98
19:11200475 LDLR C>G	19	11200475	11200475	C	G	LDLR	c.67+184C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200475C>G	(Likely) benign	1 lab	7caa6b604e
2:21266782 APOB C>G	2	21266782	21266782	C	G	APOB	c.36G>C	NM_000384.3	NP_000375.3:p.(Leu12=)	NC_000002.11:g.21266782C>G	(Likely) benign	1 lab	7cad177278
6:44277889 MISSING T>Alt too long to show for this DUP	6	44277889	44381311	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.44277893_44381311dup	VUS	1 lab	7cae63e4c9
3:38781077 SCN10A C>A	3	38781077	38781077	C	A	SCN10A	c.2209G>T	NM_006514.4	NP_006505.4:p.(Val737Phe)	NC_000003.11:g.38781077C>A	VUS	1 lab	7caf931add
11:68685351 IGHMBP2 G>A	11	68685351	68685351	G	A	IGHMBP2	c.1060G>A	NM_002180.3	NP_002171.2:p.(Gly354Ser)	NC_000011.9:g.68685351G>A	(Likely) pathogenic	1 lab	7cb435a174
16:46782024 MYLK3 T>G	16	46782024	46782024	T	G	MYLK3	c.82A>C	NM_182493.3	NP_872299.2:p.(Lys28Gln)	NC_000016.9:g.46782024T>G	VUS	1 lab	7cb8a0f945
6:56391183 DST A>G	6	56391183	56391183	A	G	DST	c.11748T>C	NM_001144769.5	NP_001138241.1:p.(Asp3916=)	NC_000006.11:g.56391183A>G	(Likely) benign	1 lab	7cb9371d52
6:112461977 LAMA4 C>G	6	112461977	112461977	C	G	LAMA4	c.2940G>C	NM_002290.5	NP_002281.3:p.(Val980=)	NC_000006.11:g.112461977C>G	(Likely) benign	1 lab	7cb9beb468
9:135203969 SETX C>T	9	135203969	135203969	C	T	SETX	c.3016G>A	NM_001351527.2	NP_001338456.1:p.(Gly1006Arg)	NC_000009.11:g.135203969C>T	VUS	1 lab	7cbdf2a25e
3:169985656 MISSING C>Alt too long to show for this DUP	3	169985656	170265595	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.169985657_170265595dup	VUS	1 lab	7cbf1f0faf
19:9015374 MUC16 C>A	19	9015374	9015374	C	A	MUC16	c.38214G>T	NM_024690.2	NP_078966.2:p.(Met12738Ile)	NC_000019.9:g.9015374C>A	(Likely) benign	1 lab	7cc07ef5b8
15:59009930 ADAM10 T>TA	15	59009930	59009940	T	TA	ADAM10	c.56-5dup	NM_001110.4	NP_001101.1:p.?	NC_000015.9:g.59009940dup	(Likely) benign	1 lab	7cc409342a
6:123702502 TRDN T>A	6	123702502	123702502	T	A	TRDN	c.1186+13A>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123702502T>A	(Likely) benign	1 lab	7cc770164f
2:179542465 TTN G>T	2	179542465	179542465	G	T	TTN	c.34174C>A	NM_001267550.2	NP_001254479.2:p.(Pro11392Thr)	NC_000002.11:g.179542465G>T	(Likely) benign	1 lab	7cc9b7ffc7
12:57908588 MARS1 G>A	12	57908588	57908588	G	A	MARS1	c.2053G>A	NM_004990.4	NP_004981.2:p.(Val685Ile)	NC_000012.11:g.57908588G>A	VUS	1 lab	7cca9d044d
1:55525346 PCSK9 T>C	1	55525346	55525346	T	C	PCSK9	c.1681+10T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525346T>C	(Likely) benign	1 lab	7cd0ac9f03
22:50893900 SBF1 C>T	22	50893900	50893900	C	T	SBF1	c.4368+10G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50893900C>T	(Likely) benign	1 lab	7cd26b8a3a
2:179528837 TTN T>C	2	179528837	179528837	T	C	TTN	c.36281-12A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528837T>C	(Likely) benign	1 lab	7cd4ecf38a
7:33545209 BBS9 T>C	7	33545209	33545209	T	C	BBS9	c.2250T>C	NM_198428.3	NP_940820.1:p.(Ala750=)	NC_000007.13:g.33545209T>C	(Likely) benign	1 lab	7cde905bfd
12:125347825 SCARB1 C>A	12	125347825	125347825	C	A	SCARB1	c.126+316G>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125347825C>A	(Likely) benign	1 lab	7ce0b9e38f
3:181430202 SOX2 G>C	3	181430202	181430202	G	C	SOX2	c.54G>C	NM_003106.4	NP_003097.1:p.(Ser18=)	NC_000003.11:g.181430202G>C	(Likely) benign	1 lab	7ce10544aa
12:49434957 KMT2D TA>T	12	49434957	49434958	TA	T	KMT2D	c.6595del	NM_003482.4	NP_003473.3:p.(Tyr2199IlefsTer65)	NC_000012.11:g.49434958del	(Likely) pathogenic	1 lab	7ce25ef087
2:15607858 NBAS G>A	2	15607858	15607858	G	A	NBAS	c.1948C>T	NM_015909.4	NP_056993.2:p.(Pro650Ser)	NC_000002.11:g.15607858G>A	(Likely) benign	1 lab	7ce336e26a
11:47359503 MYBPC3 CTT>C	11	47359503	47359522	CTT	C	MYBPC3	c.2309-160_2309-159del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359521_47359522del	(Likely) benign	1 lab	7ce43d9006
1:216595619 USH2A C>G	1	216595619	216595619	C	G	USH2A	c.60G>C	NM_206933.4	NP_996816.3:p.(Leu20Phe)	NC_000001.10:g.216595619C>G	VUS	1 lab	7ce43f1429
2:189870128 COL3A1 CT>C	2	189870128	189870129	CT	C	COL3A1	c.2985del	NM_000090.4	NP_000081.2:p.(Gly996AspfsTer240)	NC_000002.11:g.189870129del	(Likely) pathogenic	1 lab	7ce486c0bb
19:11238667 LDLR T>C	19	11238667	11238667	T	C	LDLR	c.2312-17T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238667T>C	(Likely) benign	1 lab	7ce51c499b
3:37067095 MLH1 ATATATTTTT>A	3	37067095	37067105	ATATATTTTT	A	MLH1	c.1039-31_1039-23del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067105del	(Likely) benign	1 lab	7ce6c6cc31
9:137712051 COL5A1 C>T	9	137712051	137712051	C	T	COL5A1	c.4536C>T	NM_000093.5	NP_000084.3:p.(Ser1512=)	NC_000009.11:g.137712051C>T	(Likely) benign	1 lab	7ce7669c03
15:58860967 LIPC G>GA	15	58860967	58860973	G	GA	LIPC	c.1447dup	NM_000236.3	NP_000227.2:p.(Ile483AsnfsTer6)	NC_000015.9:g.58860973dup	VUS	1 lab	7ce845dfe9
5:90006779 ADGRV1 T>C	5	90006779	90006779	T	C	ADGRV1	c.8825-19T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90006779T>C	(Likely) benign	1 lab	7ceb722b18
2:179419708 TTN GT>G	2	179419708	179419709	GT	G	TTN	c.88477del	NM_001267550.2	NP_001254479.2:p.(Thr29493ArgfsTer21)	NC_000002.11:g.179419709del	(Likely) pathogenic	1 lab	7cedd16372
2:179659947 TTN G>C	2	179659947	179659947	G	C	TTN	c.947C>G	NM_001267550.2	NP_001254479.2:p.(Ser316Cys)	NC_000002.11:g.179659947G>C	VUS	1 lab	7cee1b1da1
11:47361981 MYBPC3 C>T	11	47361981	47361981	C	T	MYBPC3	c.1927+573G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361981C>T	(Likely) benign	1 lab	7cef0d33a0
15:48722768 FBN1 T>C	15	48722768	48722768	T	C	FBN1	c.6871+100A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48722768T>C	(Likely) benign	1 lab	7cefc19f5c
1:7745100 CAMTA1 G>Alt too long to show for this DUP	1	7745100	7790627	G	Alt too long to show for this DUP	CAMTA1	c.2914+7308_2915-1881dup	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7745101_7790627dup	VUS	1 lab	7cf236d734
8:144992862 PLEC A>G	8	144992862	144992862	A	G	PLEC	c.11538T>C	NM_201380.4	NP_958782.1:p.(Ala3846=)	NC_000008.10:g.144992862A>G	(Likely) benign	1 lab	7cf35fddaf
2:55539578 CCDC88A T>C	2	55539578	55539578	T	C	CCDC88A	c.4068A>G	NM_001135597.2	NP_001129069.1:p.(Arg1356=)	NC_000002.11:g.55539578T>C	(Likely) benign	1 lab	7cf3a9235b
22:36681162 MYH9 C>T	22	36681162	36681162	C	T	MYH9	c.5483+5G>A	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36681162C>T	VUS	1 lab	7d6ba47ca2
19:38995496 RYR1 A>G	19	38995496	38995496	A	G	RYR1	c.8176A>G	NM_000540.3	NP_000531.2:p.(Lys2726Glu)	NC_000019.9:g.38995496A>G	VUS	1 lab	7cf4265682
2:131452091 MISSING C>Alt too long to show for this DUP	2	131452091	131553791	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.131452092_131553791dup	VUS	1 lab	7cf504645b
2:163124051 IFIH1 C>T	2	163124051	163124051	C	T	IFIH1	c.2836G>A	NM_022168.4	NP_071451.2:p.(Ala946Thr)	NC_000002.11:g.163124051C>T	(Likely) benign	1 lab	7cf94b3c02
11:47364632 MYBPC3 C>T	11	47364632	47364632	C	T	MYBPC3	c.1291G>A	NM_000256.3	NP_000247.2:p.(Asp431Asn)	NC_000011.9:g.47364632C>T	VUS	1 lab	7cfdb90ef2
1:3342681 PRDM16 C>T	1	3342681	3342681	C	T	PRDM16	c.3176C>T	NM_022114.4	NP_071397.3:p.(Ser1059Leu)	NC_000001.10:g.3342681C>T	VUS	1 lab	7cfdddc492
2:179397397 TTN G>A	2	179397397	179397397	G	A	TTN	c.103945C>T	NM_001267550.2	NP_001254479.2:p.(Arg34649Ter)	NC_000002.11:g.179397397G>A	(Likely) pathogenic	1 lab	7cff318a90
5:60628153 ZSWIM6 G>GGGC	5	60628153	60628173	G	GGGC	ZSWIM6	c.72_74dup	NM_020928.2	NP_065979.1:p.(Gly26dup)	NC_000005.9:g.60628171_60628173dup	(Likely) benign	1 lab	7d01d724a7
2:233387242 PRSS56 TG>T	2	233387242	233387243	TG	T	PRSS56	c.465del	NM_001195129.2	NP_001182058.1:p.(Trp156GlyfsTer3)	NC_000002.11:g.233387243del	(Likely) pathogenic	1 lab	7d01e0d555
19:40901051 PRX G>A	19	40901051	40901051	G	A	PRX	c.3208C>T	NM_181882.3	NP_870998.2:p.(Arg1070Ter)	NC_000019.9:g.40901051G>A	(Likely) pathogenic	1 lab	7d02390813
8:10468179 RP1L1 G>C	8	10468179	10468179	G	C	RP1L1	c.3429C>G	NM_178857.6	NP_849188.4:p.(Asp1143Glu)	NC_000008.10:g.10468179G>C	(Likely) benign	1 lab	7d059a886c
8:19809321 LPL C>T	8	19809321	19809321	C	T	LPL	c.291C>T	NM_000237.3	NP_000228.1:p.(Ala97=)	NC_000008.10:g.19809321C>T	(Likely) benign	1 lab	7d0cef3e26
8:24814007 NEFL G>T	8	24814007	24814007	G	T	NEFL	c.23C>A	NM_006158.5	NP_006149.2:p.(Pro8Gln)	NC_000008.10:g.24814007G>T	(Likely) pathogenic	1 lab	7d0e35b06b
11:47356157 MYBPC3 A>G	11	47356157	47356157	A	G	MYBPC3	c.2905+436T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356157A>G	(Likely) benign	1 lab	7d10370502
11:116706852 APOA1 T>C	11	116706852	116706852	T	C	APOA1	c.476A>G	NM_000039.3	NP_000030.1:p.(His159Arg)	NC_000011.9:g.116706852T>C	VUS	1 lab	7d1134d4f8
2:44049989 ABCG5 G>A	2	44049989	44049989	G	A	ABCG5	c.1410C>T	NM_022436.3	NP_071881.1:p.(His470=)	NC_000002.11:g.44049989G>A	(Likely) benign	1 lab	7d125022f2
14:23902297 MYH7 A>G	14	23902297	23902297	A	G	MYH7	c.341T>C	NM_000257.4	NP_000248.2:p.(Ile114Thr)	NC_000014.8:g.23902297A>G	VUS	1 lab	7d16780987
7:94047743 COL1A2 C>A	7	94047743	94047743	C	A	COL1A2	c.1972-68C>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94047743C>A	(Likely) benign	1 lab	7d19186f05
5:127644891 FBN2 G>A	5	127644891	127644891	G	A	FBN2	c.5353+48C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644891G>A	(Likely) benign	1 lab	7d1fe762f8
2:179448325 TTN G>A	2	179448325	179448325	G	A	TTN	c.65575+9C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448325G>A	(Likely) benign	1 lab	7d22455467
2:21230249 APOB G>A	2	21230249	21230249	G	A	APOB	c.9491C>T	NM_000384.3	NP_000375.3:p.(Thr3164Met)	NC_000002.11:g.21230249G>A	(Likely) benign	1 lab	7d22758205
10:3782126 MISSING Ref too long to show for this DEL>A	10	3782126	3839567	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3782128_3839567del	VUS	1 lab	7d23aad2ad
22:50659548 TUBGCP6 G>A	22	50659548	50659548	G	A	TUBGCP6	c.3240C>T	NM_020461.4	NP_065194.3:p.(His1080=)	NC_000022.10:g.50659548G>A	(Likely) benign	1 lab	7d252af60b
1:2985822 PRDM16 C>T	1	2985822	2985822	C	T	PRDM16	c.-2C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.2985822C>T	(Likely) benign	1 lab	7d582a871e
9:137714849 COL5A1 G>A	9	137714849	137714849	G	A	COL5A1	c.4614G>A	NM_000093.5	NP_000084.3:p.(Pro1538=)	NC_000009.11:g.137714849G>A	(Likely) benign	1 lab	7d25d94001
21:46596498 ADARB1 C>T	21	46596498	46596498	C	T	ADARB1	c.882C>T	NM_015833.4	NP_056648.1:p.(Ala294=)	NC_000021.8:g.46596498C>T	(Likely) benign	1 lab	7d26eb42eb
7:128632119 TNPO3 T>C	7	128632119	128632119	T	C	TNPO3	c.1292A>G	NM_012470.4	NP_036602.1:p.(Asn431Ser)	NC_000007.13:g.128632119T>C	VUS	1 lab	7d29aa002e
16:84309674 MISSING Ref too long to show for this DEL>G	16	84309674	84382665	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.84309676_84382665del	VUS	1 lab	7d2abbadb9
11:19209823 CSRP3 C>T	11	19209823	19209823	C	T	CSRP3	c.141G>A	NM_003476.5	NP_003467.1:p.(Thr47=)	NC_000011.9:g.19209823C>T	(Likely) benign	1 lab	7d2b9b6bc4
15:48737394 FBN1 CAT>C	15	48737394	48737404	CAT	C	FBN1	c.5917+177_5917+178del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48737403_48737404del	(Likely) benign	1 lab	7d2fd677ae
9:137667028 COL5A1 G>A	9	137667028	137667028	G	A	COL5A1	c.2385+270G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137667028G>A	(Likely) benign	1 lab	7d3065d9e8
9:16419345 BNC2 T>A	9	16419345	16419345	T	A	BNC2	c.2942A>T	NM_017637.6	NP_060107.3:p.(Asp981Val)	NC_000009.11:g.16419345T>A	VUS	1 lab	7d30d4f38c
8:123690657 MISSING A>Alt too long to show for this DUP	8	123690657	123822633	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.123690659_123822633dup	VUS	1 lab	7d31431f77
2:179516007 TTN T>G	2	179516007	179516007	T	G	TTN	c.39588A>C	NM_001267550.2	NP_001254479.2:p.(Val13196=)	NC_000002.11:g.179516007T>G	(Likely) benign	1 lab	7d31d1044d
19:11224051 LDLR C>G	19	11224051	11224051	C	G	LDLR	c.1284C>G	NM_000527.5	NP_000518.1:p.(Asn428Lys)	NC_000019.9:g.11224051C>G	(Likely) pathogenic	1 lab	7d322afe3c
1:94528781 ABCA4 G>A	1	94528781	94528781	G	A	ABCA4	c.1647C>T	NM_000350.3	NP_000341.2:p.(Ala549=)	NC_000001.10:g.94528781G>A	(Likely) benign	1 lab	7d362748c2
22:26937420 TPST2 G>A	22	26937420	26937420	G	A	TPST2	c.339C>T	NM_001362923.2	NP_001349852.1:p.(His113=)	NC_000022.10:g.26937420G>A	(Likely) benign	1 lab	7d37a5f168
10:112580995 RBM20 C>T	10	112580995	112580995	C	T	RBM20	c.2656-38C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112580995C>T	(Likely) benign	1 lab	7d42a13455
1:55518484 PCSK9 G>A	1	55518484	55518484	G	A	PCSK9	c.799+20G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518484G>A	(Likely) benign	1 lab	7d4473b625
2:21225985 APOB C>T	2	21225985	21225985	C	T	APOB	c.12309G>A	NM_000384.3	NP_000375.3:p.(Lys4103=)	NC_000002.11:g.21225985C>T	(Likely) benign	1 lab	7d48b9801d
11:121440903 SORL1 C>T	11	121440903	121440903	C	T	SORL1	c.3261C>T	NM_003105.6	NP_003096.2:p.(Asn1087=)	NC_000011.9:g.121440903C>T	(Likely) benign	1 lab	7d4ac8d5de
1:55505926 PCSK9 C>T	1	55505926	55505926	C	T	PCSK9	n.32C>T	NR_110451.2		NC_000001.10:g.55505926C>T	(Likely) benign	1 lab	668156b724
19:11200238 LDLR GC>G	19	11200238	11200239	GC	G	LDLR	c.15del	NM_000527.5	NP_000518.1:p.(Trp6GlyfsTer200)	NC_000019.9:g.11200239del	(Likely) pathogenic	1 lab	7d4ba3f0b4
19:55329789 KIR3DL1 C>G	19	55329789	55329789	C	G	KIR3DL1	c.90C>G	NM_013289.3	NP_037421.2:p.(Phe30Leu)	NC_000019.9:g.55329789C>G	(Likely) benign	1 lab	7d4fd37195
9:94830377 SPTLC1 A>T	9	94830377	94830377	A	T	SPTLC1	c.431T>A	NM_006415.4	NP_006406.1:p.(Val144Asp)	NC_000009.11:g.94830377A>T	(Likely) pathogenic	1 lab	7d50840c11
11:119216999 C1QTNF5 A>G	11	119216999	119216999	A	G	C1QTNF5	c.-2497T>C	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216999A>G	(Likely) benign	1 lab	7d5499a886
1:10402222 KIF1B A>C	1	10402222	10402222	A	C	KIF1B	c.3628A>C	NM_001365951.3	NP_001352880.1:p.(Asn1210His)	NC_000001.10:g.10402222A>C	VUS	1 lab	7d595dd35a
16:15829084 MYH11 A>G	16	15829084	15829084	A	G	MYH11	c.3506+139T>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15829084A>G	(Likely) benign	1 lab	7d5a26e88a
2:179407055 TTN T>TG	2	179407055	179407056	T	TG	TTN	c.97427dup	NM_001267550.2	NP_001254479.2:p.(Thr32477AsnfsTer13)	NC_000002.11:g.179407056dup	(Likely) pathogenic	1 lab	7d5e446f0d
15:74364586 GOLGA6A T>C	15	74364586	74364586	T	C	GOLGA6A	c.1566A>G	NM_001038640.2	NP_001033729.2:p.(Pro522=)	NC_000015.9:g.74364586T>C	(Likely) benign	1 lab	7d5f5689e4
12:14018913 GRIN2B T>C	12	14018913	14018913	T	C	GRIN2B	c.230A>G	NM_000834.5	NP_000825.2:p.(Asp77Gly)	NC_000012.11:g.14018913T>C	VUS	1 lab	7d6176a411
1:10421017 KIF1B T>C	1	10421017	10421017	T	C	KIF1B	c.3948T>C	NM_015074.3	NP_055889.2:p.(Asp1316=)	NC_000001.10:g.10421017T>C	(Likely) benign	1 lab	7d63f850c4
19:40902721 PRX G>A	19	40902721	40902721	G	A	PRX	c.1538C>T	NM_181882.3	NP_870998.2:p.(Pro513Leu)	NC_000019.9:g.40902721G>A	VUS	1 lab	7d647420dc
4:114213682 ANK2 G>C	4	114213682	114213682	G	C	ANK2	c.2376+12G>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114213682G>C	(Likely) benign	1 lab	7d667a4385
2:44100949 ABCG8 G>A	2	44100949	44100949	G	A	ABCG8	c.1235G>A	NM_022437.3	NP_071882.1:p.(Arg412Gln)	NC_000002.11:g.44100949G>A	(Likely) pathogenic	1 lab	7d6698b066
19:11217582 LDLR G>A	19	11217582	11217582	G	A	LDLR	c.817+219G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217582G>A	(Likely) benign	1 lab	7d66af69b5
20:42744478 JPH2 C>CGGGGCCTCGGAGCGTG	20	42744478	42744501	C	CGGGGCCTCGGAGCGTG	JPH2	c.1821_1836dup	NM_020433.5	NP_065166.2:p.(Glu613HisfsTer34)	NC_000020.10:g.42744486_42744501dup	VUS	1 lab	7d68af653c
19:11132541 SMARCA4 C>T	19	11132541	11132541	C	T	SMARCA4	c.2757C>T	NM_001128849.3	NP_001122321.1:p.(Pro919=)	NC_000019.9:g.11132541C>T	(Likely) benign	1 lab	7d6e65be86
1:201332526 TNNT2 C>T	1	201332526	201332526	C	T	TNNT2	c.468G>A	NM_001276347.2	NP_001263276.1:p.(Arg156=)	NC_000001.10:g.201332526C>T	(Likely) benign	1 lab	7d743c5fef
15:45397993 DUOX2 C>T	15	45397993	45397993	C	T	DUOX2	c.2182G>A	NM_014080.5	NP_054799.4:p.(Ala728Thr)	NC_000015.9:g.45397993C>T	(Likely) benign	1 lab	7d7a5a0bd4
1:3322196 PRDM16 G>A	1	3322196	3322196	G	A	PRDM16	c.1170G>A	NM_022114.4	NP_071397.3:p.(Thr390=)	NC_000001.10:g.3322196G>A	(Likely) benign	1 lab	7d7c126433
5:159839530 SLU7 T>TAAAAAAAAAAAAAAA	5	159839530	159839545	T	TAAAAAAAAAAAAAAA	SLU7	c.571-5_571-4insTTTTTTTTTTTTTTT	NM_006425.5	NP_006416.3:p.?	NC_000005.9:g.159839544_159839545insAAAAAAAAAAAAAAA	(Likely) benign	1 lab	7d7c9e7ba2
15:48791398 FBN1 C>T	15	48791398	48791398	C	T	FBN1	c.2114-163G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48791398C>T	(Likely) benign	1 lab	7d84338425
2:170048482 LRP2 C>T	2	170048482	170048482	C	T	LRP2	c.8892G>A	NM_004525.3	NP_004516.2:p.(Arg2964=)	NC_000002.11:g.170048482C>T	(Likely) benign	1 lab	7d881770de
2:21233479 APOB G>T	2	21233479	21233479	G	T	APOB	c.6261C>A	NM_000384.3	NP_000375.3:p.(Thr2087=)	NC_000002.11:g.21233479G>T	(Likely) benign	1 lab	7d8ef64cef
17:15517060 FBXW10B G>GA	17	15517060	15517072	G	GA	FBXW10B	c.872-5dup	NM_001282540.2	NP_001269469.1:p.?	NC_000017.10:g.15517072dup	(Likely) benign	1 lab	7d934019f8
9:107666414 ABCA1 T>C	9	107666414	107666414	T	C	ABCA1	c.-92-362A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107666414T>C	(Likely) benign	1 lab	7d97832979
15:44876450 SPG11 T>A	15	44876450	44876450	T	A	SPG11	c.5428A>T	NM_025137.4	NP_079413.3:p.(Thr1810Ser)	NC_000015.9:g.44876450T>A	(Likely) benign	1 lab	7d98192feb
17:48272955 COL1A1 A>AG	17	48272955	48272961	A	AG	COL1A1	c.1127dup	NM_000088.4	NP_000079.2:p.(Gly377TrpfsTer15)	NC_000017.10:g.48272961dup	(Likely) pathogenic	1 lab	7d98d19810
1:237550643 RYR2 C>T	1	237550643	237550643	C	T	RYR2	c.639C>T	NM_001035.3	NP_001026.2:p.(Ser213=)	NC_000001.10:g.237550643C>T	(Likely) benign	1 lab	7da0c2ec73
1:6530391 PLEKHG5 C>T	1	6530391	6530391	C	T	PLEKHG5	c.1705G>A	NM_198681.4	NP_941374.3:p.(Asp569Asn)	NC_000001.10:g.6530391C>T	VUS	1 lab	7da14bb479
1:211093133 KCNH1 T>C	1	211093133	211093133	T	C	KCNH1	c.1311A>G	NM_172362.3	NP_758872.1:p.(Ser437=)	NC_000001.10:g.211093133T>C	(Likely) benign	1 lab	7da26e2c6e
9:34997055 DNAJB5 T>A	9	34997055	34997055	T	A	DNAJB5	c.1062T>A	NM_001135005.3	NP_001128477.1:p.(Thr354=)	NC_000009.11:g.34997055T>A	(Likely) benign	1 lab	7da278bd39
1:237058743 MTR G>A	1	237058743	237058743	G	A	MTR	c.3491G>A	NM_000254.3	NP_000245.2:p.(Arg1164His)	NC_000001.10:g.237058743G>A	(Likely) benign	1 lab	7da2ab05c1
19:11216052 LDLR G>A	19	11216052	11216052	G	A	LDLR	c.470G>A	NM_000527.5	NP_000518.1:p.(Ser157Asn)	NC_000019.9:g.11216052G>A	VUS	1 lab	7da3cc3389
5:114605498 CCDC112 T>TA	5	114605498	114605509	T	TA	CCDC112	c.1084-4dup	NM_152549.3	NP_689762.2:p.?	NC_000005.9:g.114605509dup	(Likely) benign	1 lab	7da46aa89f
3:53844184 CACNA1D G>A	3	53844184	53844184	G	A	CACNA1D	c.6111G>A	NM_000720.4	NP_000711.1:p.(Pro2037=)	NC_000003.11:g.53844184G>A	(Likely) benign	1 lab	7da54b9a81
2:21230567 APOB A>T	2	21230567	21230567	A	T	APOB	c.9173T>A	NM_000384.3	NP_000375.3:p.(Val3058Asp)	NC_000002.11:g.21230567A>T	VUS	1 lab	7da58ff504
2:131502025 MISSING Ref too long to show for this DEL>C	2	131502025	133347736	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.131502026_133347736del	(Likely) pathogenic	1 lab	7da604c302
9:107620920 ABCA1 T>A	9	107620920	107620920	T	A	ABCA1	c.603A>T	NM_005502.4	NP_005493.2:p.(Glu201Asp)	NC_000009.11:g.107620920T>A	(Likely) benign	1 lab	7da7d7ed0a
19:13192507 NFIX CA>C	19	13192507	13192508	CA	C	NFIX	c.1117del	NM_001271043.2	NP_001257972.1:p.(Thr373GlnfsTer36)	NC_000019.9:g.13192508del	(Likely) pathogenic	1 lab	7da851c795
15:58840679 LIPC G>T	15	58840679	58840679	G	T	LIPC	c.959G>T	NM_000236.3	NP_000227.2:p.(Arg320Leu)	NC_000015.9:g.58840679G>T	VUS	1 lab	7da869ba2a
11:17544491 USH1C GC>G	11	17544491	17544495	GC	G	USH1C	c.877-19del	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17544495del	(Likely) benign	1 lab	7daa9881d3
16:56996967 CETP C>T	16	56996967	56996967	C	T	CETP	c.164C>T	NM_000078.3	NP_000069.2:p.(Ala55Val)	NC_000016.9:g.56996967C>T	VUS	1 lab	7daae31704
6:111409207 SLC16A10 G>A	6	111409207	111409207	G	A	SLC16A10	c.252G>A	NM_018593.5	NP_061063.2:p.(Val84=)	NC_000006.11:g.111409207G>A	(Likely) benign	1 lab	7dadf44f9b
4:15991394 PROM1 T>A	4	15991394	15991394	T	A	PROM1	c.2037A>T	NM_006017.3	NP_006008.1:p.(Thr679=)	NC_000004.11:g.15991394T>A	(Likely) benign	1 lab	7dae9b6521
19:30193880 C19orf12 C>A	19	30193880	30193880	C	A	C19orf12	c.198G>T	NM_001031726.3	NP_001026896.2:p.(Gly66=)	NC_000019.9:g.30193880C>A	(Likely) benign	1 lab	7daeb2ed22
2:44065069 ABCG5 T>C	2	44065069	44065069	T	C	ABCG5	c.169A>G	NM_022436.3	NP_071881.1:p.(Ile57Val)	NC_000002.11:g.44065069T>C	VUS	1 lab	7e02f33f62
17:25960736 MISSING Ref too long to show for this DEL>A	17	25960736	26075070	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.25960737_26075070del	VUS	1 lab	7db3d18a63
10:92678748 ANKRD1 A>AATATATAT	10	92678748	92678773	A	AATATATAT	ANKRD1	c.346-27_346-20dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678766_92678773dup	(Likely) benign	1 lab	7db7b61e22
4:55955044 KDR A>G	4	55955044	55955044	A	G	KDR	c.3501T>C	NM_002253.3	NP_002244.1:p.(Asn1167=)	NC_000004.11:g.55955044A>G	(Likely) benign	1 lab	7dba9671ff
12:52174429 SCN8A G>T	12	52174429	52174429	G	T	SCN8A	c.3820-4G>T	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52174429G>T	(Likely) benign	1 lab	7dbc1d7181
9:116053158 PRPF4 A>G	9	116053158	116053158	A	G	PRPF4	c.528-20A>G	NM_001322267.2	NP_001309196.1:p.?	NC_000009.11:g.116053158A>G	(Likely) benign	1 lab	7dbd0ddf62
18:21115419 NPC1 G>A	18	21115419	21115419	G	A	NPC1	c.3477+14C>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21115419G>A	(Likely) benign	1 lab	7dbf0d87c5
4:100496065 MTTP A>G	4	100496065	100496065	A	G	MTTP	c.-2A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100496065A>G	VUS	1 lab	7dbf31e910
14:105173873 INF2 A>C	14	105173873	105173873	A	C	INF2	c.1269A>C	NM_001031714.4	NP_001026884.3:p.(Pro423=)	NC_000014.8:g.105173873A>C	(Likely) benign	1 lab	7dc1dcd7f1
10:27494157 ACBD5 T>A	10	27494157	27494157	T	A	ACBD5	c.1320A>T	NM_001352579.2	NP_001339508.1:p.(Thr440=)	NC_000010.10:g.27494157T>A	(Likely) benign	1 lab	7dc20efc3c
15:40916095 KNL1 C>T	15	40916095	40916095	C	T	KNL1	c.3633C>T	NM_144508.5	NP_653091.3:p.(Ile1211=)	NC_000015.9:g.40916095C>T	(Likely) benign	1 lab	7dc22b89b4
X:70443946 GJB1 C>T	X	70443946	70443946	C	T	GJB1	c.389C>T	NM_000166.6	NP_000157.1:p.(Thr130Ile)	NC_000023.10:g.70443946C>T	(Likely) pathogenic	1 lab	7dc54b5d17
18:2688437 SMCHD1 A>AAAT	18	2688437	2688441	A	AAAT	SMCHD1	c.686_688dup	NM_015295.3	NP_056110.2:p.(Asn229dup)	NC_000018.9:g.2688439_2688441dup	VUS	1 lab	7dc7095324
16:15878865 MYH11 A>T	16	15878865	15878865	A	T	MYH11	c.633+1622T>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15878865A>T	(Likely) benign	1 lab	7dc770211a
16:1005106 LMF1 A>C	16	1005106	1005106	A	C	LMF1	c.-361-440T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005106A>C	(Likely) benign	1 lab	7dca1aa088
15:30904814 GOLGA8H T>G	15	30904814	30904814	T	G	GOLGA8H	c.1215T>G	NM_001282490.1	NP_001269419.1:p.(Ala405=)	NC_000015.9:g.30904814T>G	(Likely) benign	1 lab	7dcadc2722
2:44065054 ABCG5 G>T	2	44065054	44065054	G	T	ABCG5	c.184C>A	NM_022436.3	NP_071881.1:p.(Gln62Lys)	NC_000002.11:g.44065054G>T	(Likely) benign	1 lab	7dcc492eb4
1:236900598 ACTN2 C>CATATATATAT	1	236900598	236900618	C	CATATATATAT	ACTN2	c.876+95_876+104dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900609_236900618dup	(Likely) benign	1 lab	7dcd81e744
2:179583064 TTN G>C	2	179583064	179583064	G	C	TTN	c.24769C>G	NM_001267550.2	NP_001254479.2:p.(Leu8257Val)	NC_000002.11:g.179583064G>C	VUS	1 lab	7dcee91e45
16:84100171 MBTPS1 T>C	16	84100171	84100171	T	C	MBTPS1	c.2276A>G	NM_003791.4	NP_003782.1:p.(Asn759Ser)	NC_000016.9:g.84100171T>C	VUS	1 lab	7dcf141083
1:236907806 ACTN2 C>T	1	236907806	236907806	C	T	ACTN2	c.1256-120C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236907806C>T	(Likely) benign	1 lab	7dd05fa245
X:54476122 FGD1 CCT>C	X	54476122	54476124	CCT	C	FGD1	c.2116_2117del	NM_004463.3	NP_004454.2:p.(Arg706GlyfsTer3)	NC_000023.10:g.54476123_54476124del	(Likely) pathogenic	1 lab	7dd140f097
19:18279903 PIK3R2 C>T	19	18279903	18279903	C	T	PIK3R2	c.1986C>T	NM_005027.4	NP_005018.2:p.(Asp662=)	NC_000019.9:g.18279903C>T	(Likely) benign	1 lab	7dd52bf2ac
20:42788944 JPH2 C>T	20	42788944	42788944	C	T	JPH2	c.483G>A	NM_020433.5	NP_065166.2:p.(Thr161=)	NC_000020.10:g.42788944C>T	(Likely) benign	1 lab	7dd817ed29
3:12544829 TSEN2 G>A	3	12544829	12544829	G	A	TSEN2	c.377G>A	NM_025265.4	NP_079541.1:p.(Arg126His)	NC_000003.11:g.12544829G>A	(Likely) benign	1 lab	7dd879217a
1:66096106 LEPR G>A	1	66096106	66096106	G	A	LEPR	c.2674-2729G>A	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66096106G>A	(Likely) benign	1 lab	7dd9d3ef1b
2:179546462 TTN G>T	2	179546462	179546462	G	T	TTN	c.29366C>A	NM_133378.4	NP_596869.4:p.(Pro9789Gln)	NC_000002.11:g.179546462G>T	VUS	1 lab	7ddb0f9be6
5:180057356 FLT4 C>G	5	180057356	180057356	C	G	FLT4	c.401-19G>C	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180057356C>G	(Likely) benign	1 lab	7ddbbacc2b
5:13829759 DNAH5 G>A	5	13829759	13829759	G	A	DNAH5	c.6304C>T	NM_001369.3	NP_001360.1:p.(Arg2102Cys)	NC_000005.9:g.13829759G>A	(Likely) pathogenic	1 lab	7ddc5e29ea
5:140062767 HARS1 C>T	5	140062767	140062767	C	T	HARS1	c.218G>A	NM_001258041.3	NP_001244970.1:p.(Arg73His)	NC_000005.9:g.140062767C>T	VUS	1 lab	7ddc9f5a59
4:119736598 SEC24D C>T	4	119736598	119736598	C	T	SEC24D	c.673+8G>A	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119736598C>T	(Likely) benign	1 lab	7ddd0fd013
1:116936222 ATP1A1 A>G	1	116936222	116936222	A	G	ATP1A1	c.1537A>G	NM_001160233.2	NP_001153705.1:p.(Arg513Gly)	NC_000001.10:g.116936222A>G	VUS	1 lab	7ddd79b893
2:233128061 DIS3L2 G>A	2	233128061	233128061	G	A	DIS3L2	c.1570G>A	NM_152383.5	NP_689596.4:p.(Glu524Lys)	NC_000002.11:g.233128061G>A	(Likely) benign	1 lab	7dde0c0cf5
1:210414899 SERTAD4 G>T	1	210414899	210414899	G	T	SERTAD4	c.292-4G>T	NM_019605.5	NP_062551.1:p.?	NC_000001.10:g.210414899G>T	(Likely) benign	1 lab	7de18074d3
14:23857531 MYH6 G>T	14	23857531	23857531	G	T	MYH6	c.4192C>A	NM_002471.4	NP_002462.2:p.(Arg1398=)	NC_000014.8:g.23857531G>T	(Likely) benign	1 lab	7de25ae960
16:72138365 DHX38 C>T	16	72138365	72138365	C	T	DHX38	c.2011-20C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72138365C>T	(Likely) benign	1 lab	7de8fe13a3
5:89989834 ADGRV1 C>T	5	89989834	89989834	C	T	ADGRV1	c.7261C>T	NM_032119.4	NP_115495.3:p.(Pro2421Ser)	NC_000005.9:g.89989834C>T	VUS	1 lab	7e03ac88b3
2:179408744 TTN G>A	2	179408744	179408744	G	A	TTN	c.88423C>T	NM_133378.4	NP_596869.4:p.(Pro29475Ser)	NC_000002.11:g.179408744G>A	VUS	1 lab	7df04b6bd5
1:156843642 NTRK1 C>T	1	156843642	156843642	C	T	NTRK1	c.1068C>T	NM_002529.4	NP_002520.2:p.(Asn356=)	NC_000001.10:g.156843642C>T	(Likely) benign	1 lab	7df2b31374
2:214354692 SPAG16 Ref too long to show for this DEL>A	2	214354692	215163768	Ref too long to show for this DEL	A	SPAG16	c.949_1721-111096del	NM_024532.5	NP_078808.3:p.?	NC_000002.11:g.214354693_215163768del	VUS	1 lab	7df4a8680f
1:112321064 KCND3 G>A	1	112321064	112321064	G	A	KCND3	c.1512C>T	NM_004980.5	NP_004971.2:p.(Thr504=)	NC_000001.10:g.112321064G>A	(Likely) benign	1 lab	7df7225cce
2:21228797 APOB A>G	2	21228797	21228797	A	G	APOB	c.10943T>C	NM_000384.3	NP_000375.3:p.(Val3648Ala)	NC_000002.11:g.21228797A>G	VUS	1 lab	7df83a98b9
19:55286880 KIR2DL1 T>C	19	55286880	55286880	T	C	KIR2DL1	c.634T>C	NM_014218.3	NP_055033.2:p.(Ser212Pro)	NC_000019.9:g.55286880T>C	(Likely) benign	1 lab	7df9601d65
4:65175610 TECRL G>T	4	65175610	65175610	G	T	TECRL	c.591C>A	NM_001010874.5	NP_001010874.2:p.(Tyr197Ter)	NC_000004.11:g.65175610G>T	(Likely) pathogenic	1 lab	7dfbdb3e83
X:152770351 BGN C>T	X	152770351	152770351	C	T	BGN	c.238+24C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770351C>T	(Likely) benign	1 lab	7dfe53626a
17:79801918 P4HB A>G	17	79801918	79801918	A	G	P4HB	c.1497T>C	NM_000918.4	NP_000909.2:p.(Asp499=)	NC_000017.10:g.79801918A>G	(Likely) benign	1 lab	7e013b4f6b
X:70443796 GJB1 A>G	X	70443796	70443796	A	G	GJB1	c.239A>G	NM_000166.6	NP_000157.1:p.(Gln80Arg)	NC_000023.10:g.70443796A>G	(Likely) pathogenic	1 lab	7e0144f828
3:148939434 CP G>A	3	148939434	148939434	G	A	CP	c.146C>T	NM_000096.4	NP_000087.2:p.(Thr49Met)	NC_000003.11:g.148939434G>A	(Likely) benign	1 lab	7e02381934
1:218609462 TGFB2 G>A	1	218609462	218609462	G	A	TGFB2	c.989G>A	NM_001135599.4	NP_001129071.1:p.(Arg330His)	NC_000001.10:g.218609462G>A	(Likely) pathogenic	1 lab	7e0269cf28
22:24109651 CHCHD10 C>T	22	24109651	24109651	C	T	CHCHD10	c.171G>A	NM_001301339.2	NP_001288268.1:p.(Val57=)	NC_000022.10:g.24109651C>T	(Likely) benign	1 lab	7e05630fb0
6:149886754 MISSING A>Alt too long to show for this DUP	6	149886754	149903566	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.149886757_149903566dup	VUS	1 lab	7e0592fb39
5:1278821 TERT C>T	5	1278821	1278821	C	T	TERT	c.2221G>A	NM_198253.3	NP_937983.2:p.(Val741Met)	NC_000005.9:g.1278821C>T	(Likely) benign	1 lab	7e08011f65
19:50435922 ATF5 T>C	19	50435922	50435922	T	C	ATF5	c.422T>C	NM_012068.5	NP_036200.2:p.(Leu141Pro)	NC_000019.9:g.50435922T>C	(Likely) benign	1 lab	7e08fb4420
6:7558740 DSP CTT>C	6	7558740	7558765	CTT	C	DSP	c.422+267_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558764_7558765del	(Likely) benign	1 lab	7e0a42d43b
4:100534270 MTTP A>G	4	100534270	100534270	A	G	MTTP	c.2190A>G	NM_000253.4	NP_000244.2:p.(Gly730=)	NC_000004.11:g.100534270A>G	(Likely) benign	1 lab	7e0d7d5d14
18:47091683 LIPG C>A	18	47091683	47091683	C	A	LIPG	c.98-4C>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47091683C>A	(Likely) benign	1 lab	7e36de5c94
3:38593168 SCN5A C>T	3	38593168	38593168	C	T	SCN5A	c.4814-119G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593168C>T	(Likely) benign	1 lab	7e10e02c6d
2:179644927 TTN A>T	2	179644927	179644927	A	T	TTN	c.3529T>A	NM_001267550.2	NP_001254479.2:p.(Tyr1177Asn)	NC_000002.11:g.179644927A>T	VUS	1 lab	7e12e0f45c
1:871132 SAMD11 T>C	1	871132	871132	T	C	SAMD11	c.306-20T>C	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.871132T>C	(Likely) benign	1 lab	7e13431a0e
2:137415755 MISSING Ref too long to show for this DEL>C	2	137415755	138578755	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.137415757_138578755del	VUS	1 lab	7e13cb5c06
2:179515498 TTN G>A	2	179515498	179515498	G	A	TTN	c.39689C>T	NM_001267550.2	NP_001254479.2:p.(Ala13230Val)	NC_000002.11:g.179515498G>A	(Likely) benign	1 lab	7e16408d77
8:19812812 LPL C>T	8	19812812	19812812	C	T	LPL	c.776-540C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812812C>T	(Likely) benign	1 lab	7e187152cd
6:75800922 COL12A1 C>T	6	75800922	75800922	C	T	COL12A1	c.8752+117G>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75800922C>T	(Likely) benign	1 lab	7e18955d0a
10:95360736 RBP4 C>A	10	95360736	95360736	C	A	RBP4	c.50G>T	NM_006744.4	NP_006735.2:p.(Arg17Leu)	NC_000010.10:g.95360736C>A	(Likely) benign	1 lab	7e1974569e
2:179666953 TTN G>A	2	179666953	179666953	G	A	TTN	c.207C>T	NM_001267550.2	NP_001254479.2:p.(Ala69=)	NC_000002.11:g.179666953G>A	(Likely) benign	1 lab	7e1acb7a24
16:919893 LMF1 G>A	16	919893	919893	G	A	LMF1	c.1007C>T	NM_001352018.2	NP_001338947.1:p.(Ala336Val)	NC_000016.9:g.919893G>A	VUS	1 lab	7e1b2f455a
15:85399729 ALPK3 C>T	15	85399729	85399729	C	T	ALPK3	c.1760C>T	NM_020778.5	NP_065829.4:p.(Pro587Leu)	NC_000015.9:g.85399729C>T	VUS	1 lab	7e1b6e17bf
11:1016882 MUC6 T>G	11	1016882	1016882	T	G	MUC6	c.5919A>C	NM_005961.3	NP_005952.2:p.(Thr1973=)	NC_000011.9:g.1016882T>G	(Likely) benign	1 lab	7e1f1c20a1
22:41560068 EP300 G>A	22	41560068	41560068	G	A	EP300	c.3740G>A	NM_001429.4	NP_001420.2:p.(Cys1247Tyr)	NC_000022.10:g.41560068G>A	VUS	1 lab	7e2015154e
5:176637407 NSD1 C>T	5	176637407	176637407	C	T	NSD1	c.2007C>T	NM_022455.5	NP_071900.2:p.(Phe669=)	NC_000005.9:g.176637407C>T	(Likely) benign	1 lab	7e222db793
1:177906658 SEC16B T>G	1	177906658	177906658	T	G	SEC16B	c.2204-10A>C	NM_033127.4	NP_149118.2:p.?	NC_000001.10:g.177906658T>G	(Likely) benign	1 lab	7e244c32a4
4:6303958 WFS1 C>T	4	6303958	6303958	C	T	WFS1	c.2436C>T	NM_006005.3	NP_005996.2:p.(Ser812=)	NC_000004.11:g.6303958C>T	(Likely) benign	1 lab	7e29b27a2f
9:107562145 ABCA1 T>C	9	107562145	107562145	T	C	ABCA1	c.4898A>G	NM_005502.4	NP_005493.2:p.(Asn1633Ser)	NC_000009.11:g.107562145T>C	VUS	1 lab	7e2c74f605
8:59412662 CYP7A1 C>T	8	59412662	59412662	C	T	CYP7A1	c.-5G>A	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59412662C>T	VUS	1 lab	7e2e389652
2:21233929 APOB A>G	2	21233929	21233929	A	G	APOB	c.5811T>C	NM_000384.3	NP_000375.3:p.(Pro1937=)	NC_000002.11:g.21233929A>G	(Likely) benign	1 lab	7e3147e93b
2:44065741 ABCG5 C>A	2	44065741	44065741	C	A	ABCG5	c.78G>T	NM_022436.3	NP_071881.1:p.(Glu26Asp)	NC_000002.11:g.44065741C>A	(Likely) benign	1 lab	7e357818a5
7:151265850 PRKAG2 T>C	7	151265850	151265850	T	C	PRKAG2	c.1185A>G	NM_016203.4	NP_057287.2:p.(Ala395=)	NC_000007.13:g.151265850T>C	(Likely) benign	1 lab	7e362df9c1
15:75706546 SIN3A C>T	15	75706546	75706546	C	T	SIN3A	c.473G>A	NM_015477.3	NP_056292.1:p.(Ser158Asn)	NC_000015.9:g.75706546C>T	VUS	1 lab	7e36429761
2:44066228 ABCG8 G>A	2	44066228	44066228	G	A	ABCG8	c.36G>A	NM_022437.3	NP_071882.1:p.(Pro12=)	NC_000002.11:g.44066228G>A	(Likely) benign	1 lab	7e37cb62e1
14:92347674 FBLN5 G>A	14	92347674	92347674	G	A	FBLN5	c.783C>T	NM_001384161.1	NP_001371090.1:p.(Pro261=)	NC_000014.8:g.92347674G>A	(Likely) benign	1 lab	7e38a2bcd8
5:37045667 NIPBL T>A	5	37045667	37045667	T	A	NIPBL	c.6466T>A	NM_015384.5	NP_056199.2:p.(Phe2156Ile)	NC_000005.9:g.37045667T>A	(Likely) pathogenic	1 lab	7e472efa7c
13:20717244 GJA3 C>T	13	20717244	20717244	C	T	GJA3	c.184G>A	NM_021954.4	NP_068773.2:p.(Glu62Lys)	NC_000013.10:g.20717244C>T	VUS	1 lab	7e47caa197
17:48264007 COL1A1 TC>T	17	48264007	48264009	TC	T	COL1A1	c.3807del	NM_000088.4	NP_000079.2:p.(Trp1269Ter)	NC_000017.10:g.48264009del	(Likely) pathogenic	1 lab	7e4f533b07
22:50886717 SBF1 G>A	22	50886717	50886717	G	A	SBF1	c.5308C>T	NM_002972.4	NP_002963.2:p.(Arg1770Cys)	NC_000022.10:g.50886717G>A	VUS	1 lab	7e52f43d4f
9:421033 DOCK8 C>T	9	421033	421033	C	T	DOCK8	c.4108C>T	NM_203447.4	NP_982272.2:p.(Arg1370Cys)	NC_000009.11:g.421033C>T	VUS	1 lab	7e5aee31ff
8:3140567 CSMD1 Ref too long to show for this DEL>T	8	3140567	3206263	Ref too long to show for this DEL	T	CSMD1	c.3305-579_4153+1098del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3140569_3206263del	VUS	1 lab	7e5bddfa9f
19:50762419 MYH14 C>T	19	50762419	50762419	C	T	MYH14	c.2251C>T	NM_001145809.2	NP_001139281.1:p.(Arg751Trp)	NC_000019.9:g.50762419C>T	VUS	1 lab	7e5c15f626
17:1576873 PRPF8 G>A	17	1576873	1576873	G	A	PRPF8	c.3447-12C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1576873G>A	(Likely) benign	1 lab	7e5c7d4778
3:179118998 GNB4 C>T	3	179118998	179118998	C	T	GNB4	c.*3G>A	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179118998C>T	(Likely) benign	1 lab	7e60c9f5ea
18:34298572 FHOD3 G>A	18	34298572	34298572	G	A	FHOD3	c.3311G>A	NM_001281740.3	NP_001268669.1:p.(Arg1104Gln)	NC_000018.9:g.34298572G>A	VUS	1 lab	7e64ee68e7
4:994680 IDUA GATGGGC>G	4	994680	994687	GATGGGC	G	IDUA	c.398_403del	NM_000203.5	NP_000194.2:p.(Met133_Gly134del)	NC_000004.11:g.994682_994687del	(Likely) pathogenic	1 lab	7e673e7105
12:21332221 SLCO1B1 T>A	12	21332221	21332221	T	A	SLCO1B1	c.727+267T>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21332221T>A	(Likely) benign	1 lab	7e6be09d27
18:10540300 MISSING C>Alt too long to show for this DUP	18	10540300	10696145	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.10540303_10696145dup	VUS	1 lab	7e6fce7aa9
12:51219699 MISSING A>Alt too long to show for this DUP	12	51219699	51432493	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.51219701_51432493dup	VUS	1 lab	7e702c6947
2:21232646 APOB G>A	2	21232646	21232646	G	A	APOB	c.7094C>T	NM_000384.3	NP_000375.3:p.(Ala2365Val)	NC_000002.11:g.21232646G>A	VUS	1 lab	7e705427fe
9:139399105 NOTCH1 G>A	9	139399105	139399105	G	A	NOTCH1	c.5018+20C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139399105G>A	(Likely) benign	1 lab	7e70d68cab
15:48800725 FBN1 T>G	15	48800725	48800725	T	G	FBN1	c.1837+54A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48800725T>G	(Likely) benign	1 lab	7e716516b2
3:37067097 MLH1 A>ATT	3	37067097	37067099	A	ATT	MLH1	c.1039-30_1039-29insTT	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067098_37067099insTT	(Likely) benign	1 lab	7e75e00a88
10:92678744 ANKRD1 A>ATATATATATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	7e7a6dc7b4
X:118604409 SLC25A5 C>T	X	118604409	118604409	C	T	SLC25A5	c.672C>T	NM_001152.5	NP_001143.2:p.(Ala224=)	NC_000023.10:g.118604409C>T	(Likely) benign	1 lab	7e7d0a11eb
11:47354760 MYBPC3 G>T	11	47354760	47354760	G	T	MYBPC3	c.3315C>A	NM_000256.3	NP_000247.2:p.(Ala1105=)	NC_000011.9:g.47354760G>T	(Likely) benign	1 lab	7e7f59b7c8
7:150644883 KCNH2 G>GC	7	150644883	150644890	G	GC	KCNH2	c.2775dup	NM_000238.4	NP_000229.1:p.(Pro926AlafsTer14)	NC_000007.13:g.150644890dup	(Likely) pathogenic	1 lab	7e97432bfa
14:23898993 MYH7 C>G	14	23898993	23898993	C	G	MYH7	c.1129G>C	NM_000257.4	NP_000248.2:p.(Gly377Arg)	NC_000014.8:g.23898993C>G	VUS	1 lab	7e85046956
15:99504567 MISSING T>Alt too long to show for this DUP	15	99504567	99549283	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.99504570_99549283dup	(Likely) pathogenic	1 lab	7e859227a9
9:107572024 ABCA1 G>A	9	107572024	107572024	G	A	ABCA1	c.4176-179C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107572024G>A	(Likely) benign	1 lab	7e87bccdc0
6:16141615 MYLIP C>T	6	16141615	16141615	C	T	MYLIP	c.279-241C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16141615C>T	(Likely) benign	1 lab	7e888c4a9d
3:146201385 MISSING T>Alt too long to show for this DUP	3	146201385	146322453	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.146201386_146322453dup	VUS	1 lab	7e8ad8e5cb
9:137687203 COL5A1 A>G	9	137687203	137687203	A	G	COL5A1	c.2799+42A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137687203A>G	(Likely) benign	1 lab	7e8cecdf47
3:129094271 MISSING A>Alt too long to show for this DUP	3	129094271	129202887	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.129094272_129202887dup	VUS	1 lab	7e8cf2d636
X:130408745 IGSF1 G>A	X	130408745	130408745	G	A	IGSF1	c.3594C>T	NM_001170961.2	NP_001164432.1:p.(Val1198=)	NC_000023.10:g.130408745G>A	(Likely) benign	1 lab	7e8f11c925
12:88927191 KITLG T>Alt too long to show for this DUP	12	88927191	88938720	T	Alt too long to show for this DUP	KITLG	c.129+811_130-912dup	NM_000899.5	NP_000890.1:p.?	NC_000012.11:g.88927194_88938720dup	VUS	1 lab	7e910b62d8
11:2592593 KCNQ1 G>A	11	2592593	2592593	G	A	KCNQ1	c.643G>A	NM_000218.3	NP_000209.2:p.(Val215Met)	NC_000011.9:g.2592593G>A	(Likely) pathogenic	1 lab	7e9358f24a
7:143013444 CLCN1 C>T	7	143013444	143013444	C	T	CLCN1	c.139C>T	NM_000083.3	NP_000074.3:p.(Arg47Trp)	NC_000007.13:g.143013444C>T	VUS	1 lab	7e94fca79d
19:49671250 TRPM4 C>T	19	49671250	49671250	C	T	TRPM4	c.344C>T	NM_017636.4	NP_060106.2:p.(Pro115Leu)	NC_000019.9:g.49671250C>T	VUS	1 lab	7e964cf48d
9:107553621 ABCA1 G>A	9	107553621	107553621	G	A	ABCA1	c.5821-312C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107553621G>A	(Likely) benign	1 lab	7e9901c7b0
6:24653300 TDP2 G>A	6	24653300	24653300	G	A	TDP2	c.718C>T	NM_016614.3	NP_057698.2:p.(Gln240Ter)	NC_000006.11:g.24653300G>A	(Likely) pathogenic	1 lab	7e99bf7ee8
12:56088266 ITGA7 A>G	12	56088266	56088266	A	G	ITGA7	c.2318T>C	NM_002206.3	NP_002197.2:p.(Ile773Thr)	NC_000012.11:g.56088266A>G	VUS	1 lab	7ea04536eb
1:216465626 USH2A G>A	1	216465626	216465626	G	A	USH2A	c.1731C>T	NM_206933.4	NP_996816.3:p.(Cys577=)	NC_000001.10:g.216465626G>A	(Likely) benign	1 lab	7ea277fed7
12:125296473 SCARB1 C>T	12	125296473	125296473	C	T	SCARB1	c.669G>A	NM_005505.5	NP_005496.4:p.(Thr223=)	NC_000012.11:g.125296473C>T	VUS	1 lab	7ea3b4ca81
9:107589255 ABCA1 C>G	9	107589255	107589255	C	G	ABCA1	c.2311G>C	NM_005502.4	NP_005493.2:p.(Val771Leu)	NC_000009.11:g.107589255C>G	(Likely) benign	1 lab	7ea82a9598
18:12344149 AFG3L2 G>A	18	12344149	12344149	G	A	AFG3L2	c.1761C>T	NM_006796.3	NP_006787.2:p.(His587=)	NC_000018.9:g.12344149G>A	(Likely) benign	1 lab	7ea8a5f621
8:144997717 PLEC G>A	8	144997717	144997717	G	A	PLEC	c.6791C>T	NM_201380.4	NP_958782.1:p.(Ala2264Val)	NC_000008.10:g.144997717G>A	VUS	1 lab	7ea8dd7f37
19:50921095 POLD1 G>A	19	50921095	50921095	G	A	POLD1	c.3219-4G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50921095G>A	(Likely) benign	1 lab	7eb08b447e
2:179404500 TTN T>C	2	179404500	179404500	T	C	TTN	c.98292A>G	NM_001267550.2	NP_001254479.2:p.(Glu32764=)	NC_000002.11:g.179404500T>C	(Likely) benign	1 lab	7eb1929457
7:100275110 GNB2 C>G	7	100275110	100275110	C	G	GNB2	c.268-11C>G	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100275110C>G	(Likely) benign	1 lab	7eb5b31e11
15:48813354 FBN1 C>T	15	48813354	48813354	C	T	FBN1	c.989-340G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48813354C>T	(Likely) benign	1 lab	7eb5c80f45
1:27023330 ARID1A C>T	1	27023330	27023330	C	T	ARID1A	c.436C>T	NM_006015.6	NP_006006.3:p.(Pro146Ser)	NC_000001.10:g.27023330C>T	(Likely) benign	1 lab	7eb77ccd43
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	7eb8e2c99a
7:92764069 SAMD9L G>A	7	92764069	92764069	G	A	SAMD9L	c.1216C>T	NM_152703.5	NP_689916.2:p.(Arg406Ter)	NC_000007.13:g.92764069G>A	(Likely) benign	1 lab	7ec67bec53
17:48269390 COL1A1 G>A	17	48269390	48269390	G	A	COL1A1	c.1984-5C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269390G>A	(Likely) benign	1 lab	7ec8a21c49
11:116661054 APOA5 A>T	11	116661054	116661054	A	T	APOA5	c.891T>A	NM_052968.5	NP_443200.2:p.(Ala297=)	NC_000011.9:g.116661054A>T	(Likely) benign	1 lab	7ece0b7320
11:121495904 SORL1 G>A	11	121495904	121495904	G	A	SORL1	c.6282G>A	NM_003105.6	NP_003096.2:p.(Thr2094=)	NC_000011.9:g.121495904G>A	(Likely) benign	1 lab	7ed290140d
2:29416753 ALK T>G	2	29416753	29416753	T	G	ALK	c.4200A>C	NM_004304.5	NP_004295.2:p.(Glu1400Asp)	NC_000002.11:g.29416753T>G	(Likely) benign	1 lab	7ed2b51a3c
2:170151227 LRP2 TA>T	2	170151227	170151250	TA	T	LRP2	c.428-8del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170151250del	(Likely) benign	1 lab	7ed3396cf5
20:57598562 TUBB1 C>A	20	57598562	57598562	C	A	TUBB1	c.184C>A	NM_030773.4	NP_110400.1:p.(Arg62=)	NC_000020.10:g.57598562C>A	(Likely) benign	1 lab	7ed46d83b9
12:50500016 GPD1 G>C	12	50500016	50500016	G	C	GPD1	c.361-55G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500016G>C	(Likely) benign	1 lab	7ed4e21baf
20:23066480 CD93 A>C	20	23066480	23066480	A	C	CD93	c.350T>G	NM_012072.4	NP_036204.2:p.(Val117Gly)	NC_000020.10:g.23066480A>C	(Likely) benign	1 lab	7edb131031
11:68183984 LRP5 G>A	11	68183984	68183984	G	A	LRP5	c.1273G>A	NM_001291902.2	NP_001278831.1:p.(Asp425Asn)	NC_000011.9:g.68183984G>A	VUS	1 lab	7edc4f027d
4:16040554 PROM1 C>T	4	16040554	16040554	C	T	PROM1	c.276+15G>A	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16040554C>T	(Likely) benign	1 lab	7edfd699ba
20:42744520 JPH2 G>A	20	42744520	42744520	G	A	JPH2	c.1795C>T	NM_020433.5	NP_065166.2:p.(Pro599Ser)	NC_000020.10:g.42744520G>A	VUS	1 lab	7ee1eb9680
17:48272954 COL1A1 CA>C	17	48272954	48272955	CA	C	COL1A1	c.1128del	NM_000088.4	NP_000079.2:p.(Gly377AlafsTer164)	NC_000017.10:g.48272955del	(Likely) pathogenic	1 lab	7ee4a9786a
9:117806096 MISSING C>Alt too long to show for this DUP	9	117806096	118133022	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.117806097_118133022dup	VUS	1 lab	7eeb042a11
19:17985350 SLC5A5 C>A	19	17985350	17985350	C	A	SLC5A5	c.471C>A	NM_000453.3	NP_000444.1:p.(Asn157Lys)	NC_000019.9:g.17985350C>A	VUS	1 lab	7eefc9e8cc
13:52520523 ATP7B G>A	13	52520523	52520523	G	A	ATP7B	c.2957C>T	NM_000053.4	NP_000044.2:p.(Ser986Phe)	NC_000013.10:g.52520523G>A	(Likely) benign	1 lab	7ef17566b0
7:591010 PRKAR1B C>T	7	591010	591010	C	T	PRKAR1B	c.973+16G>A	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.591010C>T	(Likely) benign	1 lab	7ef347a30e
2:238275460 COL6A3 C>T	2	238275460	238275460	C	T	COL6A3	c.5370G>A	NM_004369.4	NP_004360.2:p.(Ala1790=)	NC_000002.11:g.238275460C>T	(Likely) benign	1 lab	7ef43e2347
5:176056539 SNCB G>A	5	176056539	176056539	G	A	SNCB	c.117C>T	NM_001001502.3	NP_001001502.1:p.(Tyr39=)	NC_000005.9:g.176056539G>A	(Likely) benign	1 lab	7ef47f9333
10:85958803 CDHR1 G>A	10	85958803	85958803	G	A	CDHR1	c.364G>A	NM_033100.4	NP_149091.1:p.(Val122Met)	NC_000010.10:g.85958803G>A	VUS	1 lab	7ef7f238bc
7:128496521 FLNC G>A	7	128496521	128496521	G	A	FLNC	c.7252-51G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496521G>A	(Likely) benign	1 lab	7efb083743
16:28639486 MISSING Ref too long to show for this DEL>A	16	28639486	29056973	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.28639487_29056973del	(Likely) pathogenic	1 lab	7efb5df259
4:79183154 MISSING A>Alt too long to show for this DUP	4	79183154	79815781	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.79183155_79815781dup	VUS	1 lab	7efb5fa12c
2:179669324 TTN C>T	2	179669324	179669324	C	T	TTN	c.46G>A	NM_001267550.2	NP_001254479.2:p.(Val16Met)	NC_000002.11:g.179669324C>T	VUS	1 lab	7effdc8587
22:31328555 MORC2 G>A	22	31328555	31328555	G	A	MORC2	c.2538C>T	NM_014941.3	NP_055756.1:p.(Ile846=)	NC_000022.10:g.31328555G>A	(Likely) benign	1 lab	7f001877ba
9:107584856 ABCA1 C>T	9	107584856	107584856	C	T	ABCA1	c.2749G>A	NM_005502.4	NP_005493.2:p.(Asp917Asn)	NC_000009.11:g.107584856C>T	VUS	1 lab	7f00ff07fc
19:17036024 CPAMD8 T>C	19	17036024	17036024	T	C	CPAMD8	c.3529A>G	NM_015692.5	NP_056507.3:p.(Thr1177Ala)	NC_000019.9:g.17036024T>C	(Likely) benign	1 lab	7f039e03ca
17:29508819 NF1 A>ATTTTTT	17	29508819	29508835	A	ATTTTTT	NF1	c.730+27_730+32dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508830_29508835dup	(Likely) benign	1 lab	7f04a1f0dc
1:35110787 MISSING Ref too long to show for this DEL>A	1	35110787	35251980	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.35110788_35251980del	(Likely) pathogenic	1 lab	7f04b12dd9
X:24516925 PDK3 C>CT	X	24516925	24516937	C	CT	PDK3	c.249-9dup	NM_001142386.3	NP_001135858.1:p.?	NC_000023.10:g.24516937dup	(Likely) benign	1 lab	7f05635528
12:21295004 SLCO1B1 T>TA	12	21295004	21295015	T	TA	SLCO1B1	c.84+423dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21295015dup	(Likely) benign	1 lab	7f07b422dd
2:179394993 TTN G>C	2	179394993	179394993	G	C	TTN	c.106349C>G	NM_001267550.2	NP_001254479.2:p.(Thr35450Ser)	NC_000002.11:g.179394993G>C	VUS	1 lab	7f0809ce16
9:107665739 ABCA1 G>A	9	107665739	107665739	G	A	ABCA1	c.66+156C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665739G>A	(Likely) benign	1 lab	7f0962e27a
10:81072496 ZMIZ1 A>G	10	81072496	81072496	A	G	ZMIZ1	c.3194A>G	NM_020338.4	NP_065071.1:p.(Glu1065Gly)	NC_000010.10:g.81072496A>G	VUS	1 lab	7f0c23a926
2:21229339 APOB T>C	2	21229339	21229339	T	C	APOB	c.10401A>G	NM_000384.3	NP_000375.3:p.(Ser3467=)	NC_000002.11:g.21229339T>C	(Likely) benign	1 lab	7f13de4d88
19:11200086 LDLR CT>C	19	11200086	11200087	CT	C	LDLR				NC_000019.9:g.11200087del	(Likely) pathogenic	1 lab	7f19393aab
7:15271796 AGMO Ref too long to show for this DEL>T	7	15271796	15351168	Ref too long to show for this DEL	T	AGMO	c.1263+53971_1264-30813del	NM_001004320.2	NP_001004320.1:p.?	NC_000007.13:g.15271797_15351168del	VUS	1 lab	7f1eeb414a
15:85400696 ALPK3 C>T	15	85400696	85400696	C	T	ALPK3	c.2727C>T	NM_020778.5	NP_065829.4:p.(Ala909=)	NC_000015.9:g.85400696C>T	(Likely) benign	1 lab	7f1ff079c8
2:179578034 TTN C>T	2	179578034	179578034	C	T	TTN	c.23095G>A	NM_133378.4	NP_596869.4:p.(Val7699Ile)	NC_000002.11:g.179578034C>T	(Likely) benign	1 lab	7f22fe8cb5
16:88497244 ZNF469 G>A	16	88497244	88497244	G	A	ZNF469	c.3366G>A	NM_001367624.2	NP_001354553.1:p.(Lys1122=)	NC_000016.9:g.88497244G>A	(Likely) benign	1 lab	7f264a120e
1:61818161 NFIA C>G	1	61818161	61818161	C	G	NFIA	c.740C>G	NM_001134673.4	NP_001128145.1:p.(Ser247Ter)	NC_000001.10:g.61818161C>G	(Likely) pathogenic	1 lab	7f28438826
16:937066 LMF1 C>A	16	937066	937066	C	A	LMF1	c.330+5941G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.937066C>A	(Likely) benign	1 lab	7f2c3c6073
15:45428793 DUOX1 C>G	15	45428793	45428793	C	G	DUOX1	c.992C>G	NM_017434.5	NP_059130.2:p.(Ser331Cys)	NC_000015.9:g.45428793C>G	VUS	1 lab	7f2c95168a
X:154754251 TMLHE C>T	X	154754251	154754251	C	T	TMLHE	c.224G>A	NM_018196.4	NP_060666.1:p.(Trp75Ter)	NC_000023.10:g.154754251C>T	VUS	1 lab	7f2dcd9cc1
2:179486648 TTN T>G	2	179486648	179486648	T	G	TTN	c.37297A>C	NM_133378.4	NP_596869.4:p.(Asn12433His)	NC_000002.11:g.179486648T>G	VUS	1 lab	7f2e697e7d
18:12202554 MISSING Ref too long to show for this DEL>T	18	12202554	12253756	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.12202556_12253756del	VUS	1 lab	7f2fd8c30d
19:7528744 ARHGEF18 C>T	19	7528744	7528744	C	T	ARHGEF18	c.1950C>T	NM_001130955.2	NP_001124427.2:p.(Ser650=)	NC_000019.9:g.7528744C>T	(Likely) benign	1 lab	7f30fbc0d7
2:189854593 COL3A1 G>A	2	189854593	189854593	G	A	COL3A1	c.691-229G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189854593G>A	(Likely) benign	1 lab	7f32b69e17
10:89653868 PTEN T>A	10	89653868	89653868	T	A	PTEN	c.164+2T>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89653868T>A	(Likely) pathogenic	1 lab	7f33006342
19:17737435 UNC13A A>G	19	17737435	17737435	A	G	UNC13A	c.4073+7T>C	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17737435A>G	(Likely) benign	1 lab	7f3428f63b
6:16131117 MYLIP T>A	6	16131117	16131117	T	A	MYLIP	c.278+139T>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131117T>A	(Likely) benign	1 lab	7f35523472
6:32012928 TNXB G>A	6	32012928	32012928	G	A	TNXB	c.10776C>T	NM_019105.8	NP_061978.6:p.(Asn3592=)	NC_000006.11:g.32012928G>A	(Likely) benign	1 lab	7f35ecb88f
15:28391398 HERC2 C>T	15	28391398	28391398	C	T	HERC2	c.10993G>A	NM_004667.6	NP_004658.3:p.(Val3665Ile)	NC_000015.9:g.28391398C>T	VUS	1 lab	7f35f30eef
3:3147162 MISSING Ref too long to show for this DEL>A	3	3147162	10891025	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.3147164_10891025del	(Likely) pathogenic	1 lab	7f37dc7124
15:55727162 DNAAF4 G>A	15	55727162	55727162	G	A	DNAAF4	c.988C>T	NM_130810.4	NP_570722.2:p.(Arg330Trp)	NC_000015.9:g.55727162G>A	(Likely) pathogenic	1 lab	7f3a8117db
4:186705679 MISSING G>Alt too long to show for this DUP	4	186705679	187518787	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.186705680_187518787dup	VUS	1 lab	7f3e75d14c
7:74175483 MISSING Ref too long to show for this DEL>A	7	74175483	74217791	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.74175485_74217791del	VUS	1 lab	7f3fb12e83
14:23862998 MYH6 G>A	14	23862998	23862998	G	A	MYH6	c.2805C>T	NM_002471.4	NP_002462.2:p.(Asn935=)	NC_000014.8:g.23862998G>A	(Likely) benign	1 lab	7f431442cf
19:11200083 LDLR C>G	19	11200083	11200083	C	G	LDLR				NC_000019.9:g.11200083C>G	(Likely) pathogenic	1 lab	7f4358c760
16:88500646 ZNF469 C>T	16	88500646	88500646	C	T	ZNF469	c.6768C>T	NM_001367624.2	NP_001354553.1:p.(Ser2256=)	NC_000016.9:g.88500646C>T	(Likely) benign	1 lab	7f435acb9d
9:4286365 GLIS3 T>G	9	4286365	4286365	T	G	GLIS3	c.61A>C	NM_001042413.2	NP_001035878.1:p.(Arg21=)	NC_000009.11:g.4286365T>G	(Likely) benign	1 lab	7f47b708a0
15:44859603 SPG11 T>C	15	44859603	44859603	T	C	SPG11	c.6754+19A>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44859603T>C	(Likely) benign	1 lab	7f4a8afcea
9:139327512 INPP5E G>C	9	139327512	139327512	G	C	INPP5E	c.1175C>G	NM_001318502.2	NP_001305431.1:p.(Thr392Arg)	NC_000009.11:g.139327512G>C	VUS	1 lab	7f4afda7c1
22:51159939 SHANK3 G>T	22	51159939	51159939	G	T	SHANK3	c.3903G>T	NM_001372044.2	NP_001358973.1:p.(Gly1301=)	NC_000022.10:g.51159939G>T	(Likely) benign	1 lab	7f4bb349b4
1:150526270 ADAMTSL4 C>T	1	150526270	150526270	C	T	ADAMTSL4	c.803C>T	NM_019032.6	NP_061905.2:p.(Ser268Phe)	NC_000001.10:g.150526270C>T	(Likely) benign	1 lab	7f6d727cba
1:43216321 P3H1 C>G	1	43216321	43216321	C	G	P3H1	c.1570-314G>C	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43216321C>G	(Likely) benign	1 lab	7f5464cb4b
12:2558243 CACNA1C C>T	12	2558243	2558243	C	T	CACNA1C	c.579C>T	NM_199460.4	NP_955630.3:p.(Asn193=)	NC_000012.11:g.2558243C>T	(Likely) benign	1 lab	7f59d038ba
12:58220841 CTDSP2 C>T	12	58220841	58220841	C	T	CTDSP2	c.292G>A	NM_005730.4	NP_005721.3:p.(Asp98Asn)	NC_000012.11:g.58220841C>T	(Likely) benign	1 lab	7f59f8d5ba
1:17316750 ATP13A2 G>A	1	17316750	17316750	G	A	ATP13A2	c.2284C>T	NM_022089.4	NP_071372.1:p.(Arg762Trp)	NC_000001.10:g.17316750G>A	(Likely) benign	1 lab	7f628eda51
20:12989901 SPTLC3 T>C	20	12989901	12989901	T	C	SPTLC3	c.-15T>C	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.12989901T>C	(Likely) benign	1 lab	7f634b6c5c
11:66293659 BBS1 T>C	11	66293659	66293659	T	C	BBS1	c.1176T>C	NM_024649.5	NP_078925.3:p.(Thr392=)	NC_000011.9:g.66293659T>C	(Likely) benign	1 lab	7f65a2d5a9
8:19809372 LPL G>A	8	19809372	19809372	G	A	LPL	c.342G>A	NM_000237.3	NP_000228.1:p.(Leu114=)	NC_000008.10:g.19809372G>A	(Likely) benign	1 lab	7f65cd6866
6:150719314 IYD G>A	6	150719314	150719314	G	A	IYD	c.811G>A	NM_203395.3	NP_981932.1:p.(Glu271Lys)	NC_000006.11:g.150719314G>A	(Likely) benign	1 lab	7f69d8a487
6:75839963 COL12A1 A>T	6	75839963	75839963	A	T	COL12A1	c.6068-14T>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75839963A>T	(Likely) benign	1 lab	7f6dbd6d8c
19:11233595 LDLR TC>T	19	11233595	11233601	TC	T	LDLR	c.2141-249del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233601del	(Likely) benign	1 lab	7f6f419eb7
15:84672397 MISSING Ref too long to show for this DEL>A	15	84672397	84812693	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.84672399_84812693del	VUS	1 lab	7f7086a384
6:32017373 TNXB GAGA>G	6	32017373	32017378	GAGA	G	TNXB	c.9434-12_9434-10del	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32017376_32017378del	(Likely) benign	1 lab	7f72614d6b
6:26033331 MISSING Ref too long to show for this DEL>T	6	26033331	26056163	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.26033333_26056163del	VUS	1 lab	7f72a1f3db
20:60903942 LAMA5 A>C	20	60903942	60903942	A	C	LAMA5	c.4405T>G	NM_005560.6	NP_005551.3:p.(Ser1469Ala)	NC_000020.10:g.60903942A>C	(Likely) benign	1 lab	7f72cf6c65
2:179427584 TTN C>T	2	179427584	179427584	C	T	TTN	c.83275G>A	NM_001267550.2	NP_001254479.2:p.(Val27759Ile)	NC_000002.11:g.179427584C>T	VUS	1 lab	7f72fc3b89
5:89931042 ADGRV1 GAA>G	5	89931042	89931045	GAA	G	ADGRV1	c.1953_1954del	NM_032119.4	NP_115495.3:p.(Glu651AspfsTer13)	NC_000005.9:g.89931044_89931045del	(Likely) pathogenic	1 lab	7f735fe15e
9:27062666 IFT74 G>A	9	27062666	27062666	G	A	IFT74	c.1735G>A	NM_001099222.3	NP_001092692.1:p.(Val579Met)	NC_000009.11:g.27062666G>A	(Likely) benign	1 lab	7f73df6411
15:48704941 FBN1 C>T	15	48704941	48704941	C	T	FBN1	c.8052-1G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48704941C>T	(Likely) pathogenic	1 lab	7f77197621
2:179622513 TTN G>A	2	179622513	179622513	G	A	TTN	c.10434C>T	NM_001267550.2	NP_001254479.2:p.(Asn3478=)	NC_000002.11:g.179622513G>A	(Likely) benign	1 lab	7f7e48056e
22:50897750 SBF1 G>A	22	50897750	50897750	G	A	SBF1	c.3760C>T	NM_002972.4	NP_002963.2:p.(Arg1254Cys)	NC_000022.10:g.50897750G>A	(Likely) benign	1 lab	7f80ad993a
7:100276059 GNB2 C>T	7	100276059	100276059	C	T	GNB2	c.738C>T	NM_005273.4	NP_005264.2:p.(Asp246=)	NC_000007.13:g.100276059C>T	(Likely) benign	1 lab	7f820a4773
10:73545397 CDH23 G>A	10	73545397	73545397	G	A	CDH23	c.5722G>A	NM_022124.6	NP_071407.4:p.(Val1908Ile)	NC_000010.10:g.73545397G>A	(Likely) benign	1 lab	7f83e7c092
11:47364614 MYBPC3 C>T	11	47364614	47364614	C	T	MYBPC3	c.1309G>A	NM_000256.3	NP_000247.2:p.(Val437Met)	NC_000011.9:g.47364614C>T	VUS	1 lab	7f846d16f5
X:70443961 GJB1 A>G	X	70443961	70443961	A	G	GJB1	c.404A>G	NM_000166.6	NP_000157.1:p.(Tyr135Cys)	NC_000023.10:g.70443961A>G	(Likely) pathogenic	1 lab	7f879fe04c
4:88536013 DSPP TAGCAGTGACAGCAGCAAC>T	4	88536013	88536045	TAGCAGTGACAGCAGCAAC	T	DSPP	c.2214_2231del	NM_014208.3	NP_055023.2:p.(Asn739_Ser744del)	NC_000004.11:g.88536028_88536045del	(Likely) benign	1 lab	7f8aec9f64
16:23649387 PALB2 T>C	16	23649387	23649387	T	C	PALB2	c.108+4A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23649387T>C	VUS	1 lab	7f8b3baf0d
9:107564741 ABCA1 T>G	9	107564741	107564741	T	G	ABCA1	c.4593-301A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564741T>G	(Likely) benign	1 lab	7f8c4033ea
10:16528470 PTER C>A	10	16528470	16528470	C	A	PTER	c.552C>A	NM_030664.5	NP_109589.2:p.(Leu184=)	NC_000010.10:g.16528470C>A	(Likely) benign	1 lab	7f8dada87d
1:40562769 PPT1 A>C	1	40562769	40562769	A	C	PPT1	c.124+18T>G	NM_001363695.2	NP_001350624.1:p.?	NC_000001.10:g.40562769A>C	(Likely) benign	1 lab	7f8e624b48
15:85410595 ALPK3 G>C	15	85410595	85410595	G	C	ALPK3	c.4771G>C	NM_020778.5	NP_065829.4:p.(Gly1591Arg)	NC_000015.9:g.85410595G>C	VUS	1 lab	7f92be9f7c
5:140798671 PCDHGB7 C>T	5	140798671	140798671	C	T	PCDHGB7	c.1245C>T	NM_018927.4	NP_061750.1:p.(Thr415=)	NC_000005.9:g.140798671C>T	(Likely) benign	1 lab	7f943c27ab
18:29100928 DSG2 G>GA	18	29100928	29100929	G	GA	DSG2	c.378+1_378+2insA	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29100928_29100929insA	VUS	1 lab	7f98348143
1:63070493 ANGPTL3 A>T	1	63070493	63070493	A	T	ANGPTL3	c.*5A>T	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63070493A>T	(Likely) benign	1 lab	7f98e18ac5
4:79385669 FRAS1 C>CGG	4	79385669	79385672	C	CGG	FRAS1	c.6963_6964dup	NM_025074.7	NP_079350.5:p.(Val2322GlyfsTer6)	NC_000004.11:g.79385671_79385672dup	(Likely) pathogenic	1 lab	7f9950330e
11:68704546 IGHMBP2 GAAAA>G	11	68704546	68704552	GAAAA	G	IGHMBP2	c.2601_2604del	NM_002180.3	NP_002171.2:p.(Lys868ProfsTer109)	NC_000011.9:g.68704549_68704552del	(Likely) pathogenic	1 lab	7f9aaa85b1
3:38618283 SCN5A G>C	3	38618283	38618283	G	C	SCN5A	c.3391-11C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38618283G>C	(Likely) benign	1 lab	7f9e2d05e3
2:179595758 TTN T>TA	2	179595758	179595759	T	TA	TTN	c.17633_17634insT	NM_001267550.2	NP_001254479.2:p.(Ile5879AsnfsTer12)	NC_000002.11:g.179595758_179595759insA	VUS	1 lab	7f9fd7648b
2:179436482 TTN A>T	2	179436482	179436482	A	T	TTN	c.74377T>A	NM_001267550.2	NP_001254479.2:p.(Ser24793Thr)	NC_000002.11:g.179436482A>T	VUS	1 lab	7fa023aecf
2:189872537 COL3A1 A>T	2	189872537	189872537	A	T	COL3A1	c.3364-74A>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872537A>T	(Likely) benign	1 lab	7fa2786383
16:1020826 LMF1 G>A	16	1020826	1020826	G	A	LMF1	c.155C>T	NM_022773.4	NP_073610.2:p.(Thr52Ile)	NC_000016.9:g.1020826G>A	VUS	1 lab	7fa2f20d67
2:179487428 TTN A>G	2	179487428	179487428	A	G	TTN	c.44882T>C	NM_001267550.2	NP_001254479.2:p.(Phe14961Ser)	NC_000002.11:g.179487428A>G	VUS	1 lab	7fa3e34eac
3:33161922 CRTAP A>G	3	33161922	33161922	A	G	CRTAP	c.558A>G	NM_006371.5	NP_006362.1:p.(Ala186=)	NC_000003.11:g.33161922A>G	(Likely) benign	1 lab	7fa55b5f2a
2:44079947 ABCG8 C>T	2	44079947	44079947	C	T	ABCG8	c.904C>T	NM_022437.3	NP_071882.1:p.(Gln302Ter)	NC_000002.11:g.44079947C>T	(Likely) pathogenic	1 lab	7fa5edc8f5
6:157502209 ARID1B AAG>A	6	157502209	157502217	AAG	A	ARID1B	c.3498_3499del	NM_001371656.1	NP_001358585.1:p.(Gly1167LeufsTer33)	NC_000006.11:g.157502216_157502217del	(Likely) pathogenic	1 lab	7fa60b0355
22:26853892 HPS4 G>A	22	26853892	26853892	G	A	HPS4	c.1888C>T	NM_022081.6	NP_071364.4:p.(Leu630Phe)	NC_000022.10:g.26853892G>A	(Likely) benign	1 lab	7fa76c3fb4
15:72640066 HEXA G>A	15	72640066	72640066	G	A	HEXA	c.1107C>T	NM_000520.6	NP_000511.2:p.(Gly369=)	NC_000015.9:g.72640066G>A	(Likely) benign	1 lab	7faa20640c
12:56622879 NABP2 A>C	12	56622879	56622879	A	C	NABP2	c.518A>C	NM_024068.4	NP_076973.1:p.(His173Pro)	NC_000012.11:g.56622879A>C	(Likely) benign	1 lab	7faed4bb86
22:50898008 SBF1 G>A	22	50898008	50898008	G	A	SBF1	c.3579C>T	NM_002972.4	NP_002963.2:p.(Pro1193=)	NC_000022.10:g.50898008G>A	(Likely) benign	1 lab	7fafa79a42
2:21233878 APOB G>A	2	21233878	21233878	G	A	APOB	c.5862C>T	NM_000384.3	NP_000375.3:p.(Leu1954=)	NC_000002.11:g.21233878G>A	(Likely) benign	1 lab	7fb3f7690c
12:48368598 COL2A1 TC>T	12	48368598	48368599	TC	T	COL2A1	c.3933del	NM_001844.5	NP_001835.3:p.(Met1311IlefsTer65)	NC_000012.11:g.48368599del	(Likely) pathogenic	1 lab	7fb42329e1
5:180057231 FLT4 C>A	5	180057231	180057231	C	A	FLT4	c.507G>T	NM_182925.5	NP_891555.2:p.(Leu169=)	NC_000005.9:g.180057231C>A	(Likely) benign	1 lab	7fb8369b3d
1:237955441 RYR2 C>T	1	237955441	237955441	C	T	RYR2	c.13600C>T	NM_001035.3	NP_001026.2:p.(Pro4534Ser)	NC_000001.10:g.237955441C>T	VUS	1 lab	7fbb520867
X:43809086 NDP G>A	X	43809086	43809086	G	A	NDP	c.361C>T	NM_000266.4	NP_000257.1:p.(Arg121Trp)	NC_000023.10:g.43809086G>A	(Likely) pathogenic	1 lab	7fbcf597e2
9:101894543 TGFBR1 A>G	9	101894543	101894543	A	G	TGFBR1	c.344-248A>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101894543A>G	(Likely) benign	1 lab	7fbd02aae8
10:112541766 RBM20 A>G	10	112541766	112541766	A	G	RBM20	c.1275+124A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112541766A>G	(Likely) benign	1 lab	7fbd15e58a
5:37169220 CPLANE1 C>T	5	37169220	37169220	C	T	CPLANE1	c.6906G>A	NM_023073.4	NP_075561.3:p.(Thr2302=)	NC_000005.9:g.37169220C>T	(Likely) benign	1 lab	7fbdeb3f7b
11:8959370 ASCL3 G>A	11	8959370	8959370	G	A	ASCL3	c.339C>T	NM_020646.2	NP_065697.1:p.(Tyr113=)	NC_000011.9:g.8959370G>A	(Likely) benign	1 lab	7fc055fdd3
7:138601659 KIAA1549 C>G	7	138601659	138601659	C	G	KIAA1549	c.2713G>C	NM_001164665.2	NP_001158137.1:p.(Ala905Pro)	NC_000007.13:g.138601659C>G	(Likely) benign	1 lab	7fc2c7f173
15:71646304 THSD4 T>C	15	71646304	71646304	T	C	THSD4	c.1016-57722T>C	NM_024817.3	NP_079093.2:p.?	NC_000015.9:g.71646304T>C	(Likely) benign	1 lab	7fc5594f94
6:64694476 EYS G>A	6	64694476	64694476	G	A	EYS	c.6855C>T	NM_001292009.2	NP_001278938.1:p.(Phe2285=)	NC_000006.11:g.64694476G>A	(Likely) benign	1 lab	7fc5a14fea
7:39990622 CDK13 C>T	7	39990622	39990622	C	T	CDK13	c.382C>T	NM_003718.5	NP_003709.3:p.(Gln128Ter)	NC_000007.13:g.39990622C>T	(Likely) pathogenic	1 lab	7fc7f71bd2
18:34340651 FHOD3 C>T	18	34340651	34340651	C	T	FHOD3	c.4530C>T	NM_001281740.3	NP_001268669.1:p.(His1510=)	NC_000018.9:g.34340651C>T	(Likely) benign	1 lab	7fcabd1939
10:94399598 KIF11 G>A	10	94399598	94399598	G	A	KIF11	c.2208G>A	NM_004523.4	NP_004514.2:p.(Leu736=)	NC_000010.10:g.94399598G>A	(Likely) benign	1 lab	7fcc8b4e9b
9:107558399 ABCA1 C>T	9	107558399	107558399	C	T	ABCA1	c.5317G>A	NM_005502.4	NP_005493.2:p.(Val1773Met)	NC_000009.11:g.107558399C>T	(Likely) benign	1 lab	7fd112da7d
8:82357149 PMP2 A>G	8	82357149	82357149	A	G	PMP2	c.149T>C	NM_002677.5	NP_002668.1:p.(Ile50Thr)	NC_000008.10:g.82357149A>G	(Likely) benign	1 lab	7fd19844f7
10:68040232 CTNNA3 A>C	10	68040232	68040232	A	C	CTNNA3	c.1880T>G	NM_013266.4	NP_037398.2:p.(Ile627Ser)	NC_000010.10:g.68040232A>C	VUS	1 lab	7fd1c52df2
19:11240337 LDLR C>G	19	11240337	11240337	C	G	LDLR	c.2538C>G	NM_000527.5	NP_000518.1:p.(Ser846Arg)	NC_000019.9:g.11240337C>G	VUS	1 lab	7fd34cf26e
12:27826780 PPFIBP1 T>G	12	27826780	27826780	T	G	PPFIBP1	c.1431+20T>G	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27826780T>G	(Likely) benign	1 lab	7fd4b1ef62
16:49670687 ZNF423 G>A	16	49670687	49670687	G	A	ZNF423	c.2196C>T	NM_001271620.2	NP_001258549.1:p.(Thr732=)	NC_000016.9:g.49670687G>A	(Likely) benign	1 lab	7fd9cfed80
19:11210939 LDLR C>T	19	11210939	11210939	C	T	LDLR	c.108C>T	NM_000527.5	NP_000518.1:p.(Asp36=)	NC_000019.9:g.11210939C>T	(Likely) benign	1 lab	7fda18360f
1:74834806 TNNI3K A>AAAAT	1	74834806	74834825	A	AAAAT	TNNI3K	c.1414+24_1414+27dup	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74834822_74834825dup	(Likely) benign	1 lab	7fdf4a2725
7:143029922 CLCN1 C>T	7	143029922	143029922	C	T	CLCN1	c.1357C>T	NM_000083.3	NP_000074.3:p.(Arg453Trp)	NC_000007.13:g.143029922C>T	VUS	1 lab	7fe1f451fe
10:47087134 NPY4R G>A	10	47087134	47087134	G	A	NPY4R	c.351G>A	NM_001278794.2	NP_001265723.1:p.(Ser117=)	NC_000010.10:g.47087134G>A	(Likely) benign	1 lab	7fe64aa9c3
2:179665144 TTN C>T	2	179665144	179665144	C	T	TTN	c.561G>A	NM_001267550.2	NP_001254479.2:p.(Ser187=)	NC_000002.11:g.179665144C>T	(Likely) benign	1 lab	7fe9538765
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+31_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948353_133948371dup	(Likely) benign	1 lab	7fe9d60446
9:137704434 COL5A1 T>C	9	137704434	137704434	T	C	COL5A1	c.3745-17T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137704434T>C	(Likely) benign	1 lab	7feb0b3c4e
8:6371240 ANGPT2 C>G	8	6371240	6371240	C	G	ANGPT2	c.1158G>C	NM_001147.3	NP_001138.1:p.(Leu386Phe)	NC_000008.10:g.6371240C>G	(Likely) benign	1 lab	7fedb04d0b
6:31324536 HLA-B T>G	6	31324536	31324536	T	G	HLA-B	c.272A>C	NM_005514.8	NP_005505.2:p.(Tyr91Ser)	NC_000006.11:g.31324536T>G	(Likely) benign	1 lab	7ff1ce6cdc
8:22064455 BMP1 G>A	8	22064455	22064455	G	A	BMP1	c.2322G>A	NM_006129.5	NP_006120.1:p.(Thr774=)	NC_000008.10:g.22064455G>A	(Likely) benign	1 lab	7ff62f26fb
6:76728500 IMPG1 T>C	6	76728500	76728500	T	C	IMPG1	c.742A>G	NM_001563.4	NP_001554.2:p.(Lys248Glu)	NC_000006.11:g.76728500T>C	VUS	1 lab	7ff8bdab92
11:116661327 APOA5 C>A	11	116661327	116661327	C	A	APOA5	c.618G>T	NM_052968.5	NP_443200.2:p.(Val206=)	NC_000011.9:g.116661327C>A	(Likely) benign	1 lab	7ffe6a413c
12:22089507 ABCC9 A>G	12	22089507	22089507	A	G	ABCC9	c.102T>C	NM_020297.4	NP_064693.2:p.(His34=)	NC_000012.11:g.22089507A>G	(Likely) benign	1 lab	80013e3ffb
2:21266774 APOB G>GGCAGCGCCA	2	21266774	21266799	G	GGCAGCGCCA	APOB	c.35_43dup	NM_000384.3	NP_000375.3:p.(Leu12_Leu14dup)	NC_000002.11:g.21266791_21266799dup	VUS	1 lab	8006a74b25
16:46766144 MYLK3 C>T	16	46766144	46766144	C	T	MYLK3	c.1438G>A	NM_182493.3	NP_872299.2:p.(Ala480Thr)	NC_000016.9:g.46766144C>T	VUS	1 lab	800a4ec570
11:62383251 B3GAT3 C>T	11	62383251	62383251	C	T	B3GAT3	c.930G>A	NM_012200.4	NP_036332.2:p.(Arg310=)	NC_000011.9:g.62383251C>T	(Likely) benign	1 lab	800dd1f645
14:23884423 MYH7 C>T	14	23884423	23884423	C	T	MYH7	c.5340G>A	NM_000257.4	NP_000248.2:p.(Glu1780=)	NC_000014.8:g.23884423C>T	(Likely) benign	1 lab	800ee541ec
17:48272424 COL1A1 C>T	17	48272424	48272424	C	T	COL1A1	c.1337G>A	NM_000088.4	NP_000079.2:p.(Gly446Asp)	NC_000017.10:g.48272424C>T	(Likely) pathogenic	1 lab	800f1d367d
2:219526499 BCS1L C>T	2	219526499	219526499	C	T	BCS1L	c.478C>T	NM_004328.5	NP_004319.1:p.(Gln160Ter)	NC_000002.11:g.219526499C>T	(Likely) pathogenic	1 lab	8010dcabbc
2:21243003 APOB C>T	2	21243003	21243003	C	T	APOB	c.2817-226G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21243003C>T	VUS	1 lab	801266c12c
22:38536117 PLA2G6 C>T	22	38536117	38536117	C	T	PLA2G6	c.135G>A	NM_001349867.2	NP_001336796.1:p.(Pro45=)	NC_000022.10:g.38536117C>T	(Likely) benign	1 lab	8015235eab
10:73492027 C10orf105 G>A	10	73492027	73492027	G	A	C10orf105	c.-6+5458C>T	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73492027G>A	(Likely) benign	1 lab	80158dad1f
17:48264371 COL1A1 C>A	17	48264371	48264371	C	A	COL1A1	c.3531+5G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48264371C>A	(Likely) pathogenic	1 lab	8016ec4fb3
6:32011678 TNXB A>G	6	32011678	32011678	A	G	TNXB	c.11381-9T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011678A>G	(Likely) benign	1 lab	801769a897
3:154832768 MME T>G	3	154832768	154832768	T	G	MME	c.197-15T>G	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154832768T>G	(Likely) benign	1 lab	801d59f1f6
2:219679290 CYP27A1 A>G	2	219679290	219679290	A	G	CYP27A1	c.1286A>G	NM_000784.4	NP_000775.1:p.(Tyr429Cys)	NC_000002.11:g.219679290A>G	VUS	1 lab	80237ba91d
16:3778724 CREBBP G>C	16	3778724	3778724	G	C	CREBBP	c.6324C>G	NM_004380.3	NP_004371.2:p.(Tyr2108Ter)	NC_000016.9:g.3778724G>C	(Likely) pathogenic	1 lab	80251b41da
12:133201327 POLE T>A	12	133201327	133201327	T	A	POLE	c.6817A>T	NM_006231.4	NP_006222.2:p.(Thr2273Ser)	NC_000012.11:g.133201327T>A	(Likely) benign	1 lab	8027f84270
X:18541305 CDKL5 Ref too long to show for this DEL>G	X	18541305	18568765	Ref too long to show for this DEL	G	CDKL5	c.99+12334_100-13832del	NM_001323289.2	NP_001310218.1:p.?	NC_000023.10:g.18541308_18568765del	VUS	1 lab	802b108f40
2:44053653 ABCG5 C>T	2	44053653	44053653	C	T	ABCG5	c.642G>A	NM_022436.3	NP_071881.1:p.(Met214Ile)	NC_000002.11:g.44053653C>T	VUS	1 lab	802c24def5
3:38592761 SCN5A A>G	3	38592761	38592761	A	G	SCN5A	c.5102T>C	NM_198056.3	NP_932173.1:p.(Met1701Thr)	NC_000003.11:g.38592761A>G	(Likely) pathogenic	1 lab	803041c8be
1:74957937 FPGT-TNNI3K G>A	1	74957937	74957937	G	A	FPGT-TNNI3K	c.2641G>A	NM_001112808.3	NP_001106279.3:p.(Ala881Thr)	NC_000001.10:g.74957937G>A	VUS	1 lab	8031805785
5:127686108 FBN2 T>C	5	127686108	127686108	T	C	FBN2	c.2813-411A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127686108T>C	(Likely) benign	1 lab	8035369dfa
14:23898517 MYH7 G>A	14	23898517	23898517	G	A	MYH7	c.1178C>T	NM_000257.4	NP_000248.2:p.(Ala393Val)	NC_000014.8:g.23898517G>A	VUS	1 lab	803e5b7b6b
8:145625896 CPSF1 G>A	8	145625896	145625896	G	A	CPSF1	c.687-9C>T	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145625896G>A	(Likely) benign	1 lab	803f4dfcf4
2:86444174 REEP1 G>A	2	86444174	86444174	G	A	REEP1	c.420C>T	NM_001164732.2	NP_001158204.1:p.(Thr140=)	NC_000002.11:g.86444174G>A	(Likely) benign	1 lab	8040d5a6fb
19:11218124 LDLR C>T	19	11218124	11218124	C	T	LDLR	c.874C>T	NM_000527.5	NP_000518.1:p.(Leu292=)	NC_000019.9:g.11218124C>T	(Likely) benign	1 lab	804103d37d
3:159943402 MISSING Ref too long to show for this DEL>T	3	159943402	160018855	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.159943404_160018855del	(Likely) pathogenic	1 lab	8043d55a5f
2:21226136 APOB T>C	2	21226136	21226136	T	C	APOB	c.12158A>G	NM_000384.3	NP_000375.3:p.(Gln4053Arg)	NC_000002.11:g.21226136T>C	VUS	1 lab	804450ccb2
5:1212578 SLC6A19 C>T	5	1212578	1212578	C	T	SLC6A19	c.642C>T	NM_001003841.3	NP_001003841.1:p.(Arg214=)	NC_000005.9:g.1212578C>T	(Likely) benign	1 lab	8044590d54
15:25620728 UBE3A G>A	15	25620728	25620728	G	A	UBE3A	c.254C>T	NM_000462.5	NP_000453.2:p.(Pro85Leu)	NC_000015.9:g.25620728G>A	(Likely) benign	1 lab	80451acc04
16:67976621 LCAT C>T	16	67976621	67976621	C	T	LCAT	c.476G>A	NM_000229.2	NP_000220.1:p.(Arg159Gln)	NC_000016.9:g.67976621C>T	(Likely) pathogenic	1 lab	8045d3163e
1:23232471 EPHB2 G>T	1	23232471	23232471	G	T	EPHB2	c.1766-9G>T	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23232471G>T	(Likely) benign	1 lab	80495d31e3
2:44102516 ABCG8 G>A	2	44102516	44102516	G	A	ABCG8	c.1720G>A	NM_022437.3	NP_071882.1:p.(Gly574Arg)	NC_000002.11:g.44102516G>A	(Likely) pathogenic	1 lab	804b9d79e0
5:133944119 SAR1B G>A	5	133944119	133944119	G	A	SAR1B	c.423C>T	NM_001033503.3	NP_001028675.1:p.(Ala141=)	NC_000005.9:g.133944119G>A	(Likely) benign	1 lab	804cba6687
15:48506682 MISSING A>Alt too long to show for this DUP	15	48506682	48792518	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.48506683_48792518dup	VUS	1 lab	804ddc023e
4:22444251 ADGRA3 CAA>C	4	22444251	22444266	CAA	C	ADGRA3	c.920+20_920+21del	NM_145290.4	NP_660333.2:p.?	NC_000004.11:g.22444265_22444266del	(Likely) benign	1 lab	8050fefad9
9:34512134 DNAI1 C>T	9	34512134	34512134	C	T	DNAI1	c.1351C>T	NM_001281428.2	NP_001268357.1:p.(Gln451Ter)	NC_000009.11:g.34512134C>T	(Likely) pathogenic	1 lab	80532c75cf
1:1363155 TMEM278 C>T	1	1363155	1363155	C	T	TMEM278	c.480C>T	NM_001146685.2	NP_001140157.1:p.(Cys160=)	NC_000001.10:g.1363155C>T	(Likely) benign	1 lab	8053b1815b
12:109890079 KCTD10 Ref too long to show for this DEL>A	12	109890079	109896983	Ref too long to show for this DEL	A	KCTD10	c.388-1100_724-462del	NM_031954.5	NP_114160.1:p.?	NC_000012.11:g.109890080_109896983del	VUS	1 lab	8054362867
3:38627161 SCN5A T>TGTG	3	38627161	38627165	T	TGTG	SCN5A	c.2787+18_2787+20dup	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627163_38627165dup	(Likely) benign	1 lab	80551abd9e
X:153699486 PLXNA3 C>T	X	153699486	153699486	C	T	PLXNA3	c.5195C>T	NM_017514.5	NP_059984.3:p.(Pro1732Leu)	NC_000023.10:g.153699486C>T	VUS	1 lab	805520b7b4
6:72889604 RIMS1 A>G	6	72889604	72889604	A	G	RIMS1	c.798A>G	NM_014989.6	NP_055804.2:p.(Glu266=)	NC_000006.11:g.72889604A>G	(Likely) benign	1 lab	805568b5a4
15:95021891 MISSING Ref too long to show for this DEL>G	15	95021891	95056690	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.95021892_95056690del	VUS	1 lab	80559f6d22
17:62152611 ERN1 TA>T	17	62152611	62152626	TA	T	ERN1	c.283-5del	NM_001433.5	NP_001424.3:p.?	NC_000017.10:g.62152626del	(Likely) benign	1 lab	8055f27510
14:68159182 RDH11 G>A	14	68159182	68159182	G	A	RDH11	c.322C>T	NM_016026.4	NP_057110.3:p.(Arg108Ter)	NC_000014.8:g.68159182G>A	VUS	1 lab	80580fc455
4:84383901 ABRAXAS1 G>A	4	84383901	84383901	G	A	ABRAXAS1	c.951C>T	NM_139076.3	NP_620775.2:p.(Leu317=)	NC_000004.11:g.84383901G>A	(Likely) benign	1 lab	8058e28386
3:49693022 BSN C>T	3	49693022	49693022	C	T	BSN	c.6033C>T	NM_003458.4	NP_003449.2:p.(Asp2011=)	NC_000003.11:g.49693022C>T	(Likely) benign	1 lab	805946c92c
18:48573281 SMAD4 C>T	18	48573281	48573281	C	T	SMAD4	c.-127-9C>T	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573281C>T	(Likely) benign	1 lab	805ab23f1d
10:90988043 LIPA G>A	10	90988043	90988043	G	A	LIPA	c.342C>T	NM_000235.4	NP_000226.2:p.(Asp114=)	NC_000010.10:g.90988043G>A	(Likely) benign	1 lab	805cad25d7
4:120107311 MYOZ2 G>A	4	120107311	120107311	G	A	MYOZ2	c.751G>A	NM_016599.5	NP_057683.1:p.(Glu251Lys)	NC_000004.11:g.120107311G>A	VUS	1 lab	805f13999f
18:34298327 FHOD3 T>TGC	18	34298327	34298328	T	TGC	FHOD3	c.3066_3067insGC	NM_001281740.3	NP_001268669.1:p.(Pro1023AlafsTer46)	NC_000018.9:g.34298327_34298328insGC	VUS	1 lab	805f711bdc
2:179473495 TTN C>T	2	179473495	179473495	C	T	TTN	c.52243G>A	NM_001267550.2	NP_001254479.2:p.(Asp17415Asn)	NC_000002.11:g.179473495C>T	VUS	1 lab	8061240d05
2:44099057 ABCG8 A>G	2	44099057	44099057	A	G	ABCG8	c.965-58A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099057A>G	(Likely) benign	1 lab	8061809d62
2:97845650 ANKRD36 A>G	2	97845650	97845650	A	G	ANKRD36	c.1715A>G	NM_001354587.1	NP_001341516.1:p.(Glu572Gly)	NC_000002.11:g.97845650A>G	(Likely) benign	1 lab	8063d05a14
X:70339905 MED12 A>G	X	70339905	70339905	A	G	MED12	c.438A>G	NM_005120.3	NP_005111.2:p.(Leu146=)	NC_000023.10:g.70339905A>G	(Likely) benign	1 lab	8067660c92
2:47251434 TTC7A A>G	2	47251434	47251434	A	G	TTC7A	c.1475A>G	NM_001288953.2	NP_001275882.1:p.(Gln492Arg)	NC_000002.11:g.47251434A>G	VUS	1 lab	8067682c40
3:38620808 SCN5A A>T	3	38620808	38620808	A	T	SCN5A	c.3390+17T>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38620808A>T	(Likely) benign	1 lab	8067a6c3cb
17:40371424 STAT5B T>C	17	40371424	40371424	T	C	STAT5B	c.739A>G	NM_012448.4	NP_036580.2:p.(Ile247Val)	NC_000017.10:g.40371424T>C	VUS	1 lab	806e732074
11:116706880 APOA1 G>T	11	116706880	116706880	G	T	APOA1	c.121C>A	NM_001318021.1	NP_001304950.1:p.(Leu41Ile)	NC_000011.9:g.116706880G>T	VUS	1 lab	807081a685
5:127641242 FBN2 C>T	5	127641242	127641242	C	T	FBN2	c.5635G>A	NM_001999.4	NP_001990.2:p.(Ala1879Thr)	NC_000005.9:g.127641242C>T	VUS	1 lab	80709cee80
5:90052435 ADGRV1 T>C	5	90052435	90052435	T	C	ADGRV1	c.11745T>C	NM_032119.4	NP_115495.3:p.(Phe3915=)	NC_000005.9:g.90052435T>C	(Likely) benign	1 lab	8071225d1e
19:11227602 LDLR C>G	19	11227602	11227602	C	G	LDLR	c.1773C>G	NM_000527.5	NP_000518.1:p.(Asn591Lys)	NC_000019.9:g.11227602C>G	VUS	1 lab	8071274682
10:88476458 LDB3 G>A	10	88476458	88476458	G	A	LDB3	c.1621G>A	NM_001171610.2	NP_001165081.1:p.(Val541Ile)	NC_000010.10:g.88476458G>A	VUS	1 lab	8073e2917f
17:65918955 BPTF G>A	17	65918955	65918955	G	A	BPTF	c.5558-1G>A	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65918955G>A	(Likely) pathogenic	1 lab	80748f3960
1:12032924 PLOD1 T>A	1	12032924	12032924	T	A	PLOD1	c.1903-5T>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12032924T>A	VUS	1 lab	8207d08bfd
2:44102329 ABCG8 C>T	2	44102329	44102329	C	T	ABCG8	c.1533C>T	NM_022437.3	NP_071882.1:p.(Tyr511=)	NC_000002.11:g.44102329C>T	(Likely) benign	1 lab	807839d975
9:107547804 ABCA1 C>T	9	107547804	107547804	C	T	ABCA1	c.6518G>A	NM_005502.4	NP_005493.2:p.(Arg2173Gln)	NC_000009.11:g.107547804C>T	VUS	1 lab	807b23c06e
1:8570904 RERE Ref too long to show for this DEL>C	1	8570904	8586125	Ref too long to show for this DEL	C	RERE	c.830+15148_831-2171del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8570905_8586125del	VUS	1 lab	807def7f0c
2:21232400 APOB G>A	2	21232400	21232400	G	A	APOB	c.7340C>T	NM_000384.3	NP_000375.3:p.(Thr2447Ile)	NC_000002.11:g.21232400G>A	VUS	1 lab	807e0e7494
X:70444152 GJB1 G>C	X	70444152	70444152	G	C	GJB1	c.595G>C	NM_000166.6	NP_000157.1:p.(Gly199Arg)	NC_000023.10:g.70444152G>C	(Likely) pathogenic	1 lab	8080fb568e
10:69902746 MYPN G>A	10	69902746	69902746	G	A	MYPN	c.952G>A	NM_032578.4	NP_115967.2:p.(Val318Ile)	NC_000010.10:g.69902746G>A	VUS	1 lab	80821c2452
2:21242606 APOB G>A	2	21242606	21242606	G	A	APOB	c.2988C>T	NM_000384.3	NP_000375.3:p.(Thr996=)	NC_000002.11:g.21242606G>A	(Likely) benign	1 lab	80831d98b5
6:142233256 MISSING T>Alt too long to show for this DUP	6	142233256	142524399	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.142233257_142524399dup	VUS	1 lab	808488ea56
19:11224367 LDLR C>T	19	11224367	11224367	C	T	LDLR	c.1515C>T	NM_000527.5	NP_000518.1:p.(Gly505=)	NC_000019.9:g.11224367C>T	(Likely) benign	1 lab	8085845536
15:28228553 OCA2 C>T	15	28228553	28228553	C	T	OCA2	c.1441G>A	NM_000275.3	NP_000266.2:p.(Ala481Thr)	NC_000015.9:g.28228553C>T	(Likely) benign	1 lab	80864fad1d
18:47095420 LIPG A>G	18	47095420	47095420	A	G	LIPG	c.460-387A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095420A>G	(Likely) benign	1 lab	812a07460b
21:48014805 MISSING Ref too long to show for this DEL>G	21	48014805	48043706	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.48014808_48043706del	(Likely) pathogenic	1 lab	8087624238
21:44485538 CBS G>T	21	44485538	44485538	G	T	CBS	c.625C>A	NM_000071.3	NP_000062.1:p.(Arg209=)	NC_000021.8:g.44485538G>T	(Likely) benign	1 lab	8091cf7f13
X:119739984 MCTS1 G>A	X	119739984	119739984	G	A	MCTS1	c.215G>A	NM_014060.3	NP_054779.1:p.(Arg72Lys)	NC_000023.10:g.119739984G>A	(Likely) benign	1 lab	8096462c95
6:110086352 FIG4 C>G	6	110086352	110086352	C	G	FIG4	c.1571C>G	NM_014845.6	NP_055660.1:p.(Thr524Arg)	NC_000006.11:g.110086352C>G	VUS	1 lab	8098494917
3:8787498 CAV3 C>T	3	8787498	8787498	C	T	CAV3	c.401C>T	NM_033337.3	NP_203123.1:p.(Ala134Val)	NC_000003.11:g.8787498C>T	VUS	1 lab	809ce2752b
10:90975773 LIPA A>G	10	90975773	90975773	A	G	LIPA	c.895-7T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975773A>G	VUS	1 lab	80a1302545
6:100838674 SIM1 A>G	6	100838674	100838674	A	G	SIM1	c.1864T>C	NM_005068.3	NP_005059.2:p.(Ser622Pro)	NC_000006.11:g.100838674A>G	(Likely) benign	1 lab	80a2e44cdb
12:48389500 COL2A1 C>T	12	48389500	48389500	C	T	COL2A1	c.701G>A	NM_001844.5	NP_001835.3:p.(Gly234Asp)	NC_000012.11:g.48389500C>T	(Likely) pathogenic	1 lab	80a3d2bad5
21:46910730 COL18A1 T>C	21	46910730	46910730	T	C	COL18A1	c.3277-20T>C	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46910730T>C	(Likely) benign	1 lab	80a475ff82
19:11211079 LDLR C>T	19	11211079	11211079	C	T	LDLR	c.190+58C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211079C>T	(Likely) benign	1 lab	80aa677844
3:71319915 MISSING Ref too long to show for this DEL>C	3	71319915	72024033	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.71319918_72024033del	(Likely) pathogenic	1 lab	80aaaf54c7
2:179430976 TTN C>G	2	179430976	179430976	C	G	TTN	c.79883G>C	NM_001267550.2	NP_001254479.2:p.(Arg26628Pro)	NC_000002.11:g.179430976C>G	VUS	1 lab	80aba78484
2:44078742 ABCG8 G>A	2	44078742	44078742	G	A	ABCG8	c.342G>A	NM_022437.3	NP_071882.1:p.(Leu114=)	NC_000002.11:g.44078742G>A	(Likely) benign	1 lab	80abdcd7fc
5:149509310 PDGFRB G>A	5	149509310	149509310	G	A	PDGFRB	c.1579+10C>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149509310G>A	(Likely) benign	1 lab	80abe71473
8:100830672 VPS13B T>C	8	100830672	100830672	T	C	VPS13B	c.8437-7T>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100830672T>C	(Likely) benign	1 lab	834d421762
4:41748118 PHOX2B C>A	4	41748118	41748118	C	A	PHOX2B	c.651G>T	NM_003924.4	NP_003915.2:p.(Gly217=)	NC_000004.11:g.41748118C>A	(Likely) benign	1 lab	80b01ca497
17:6394483 MISSING T>Alt too long to show for this DUP	17	6394483	6556830	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.6394484_6556830dup	VUS	1 lab	80b4a26128
5:58869339 PDE4D T>Alt too long to show for this DUP	5	58869339	58883329	T	Alt too long to show for this DUP	PDE4D	c.455+305671_455+319655dup	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58869345_58883329dup	VUS	1 lab	80b5a81414
12:125348246 SCARB1 C>G	12	125348246	125348246	C	G	SCARB1	c.21G>C	NM_005505.5	NP_005496.4:p.(Ala7=)	NC_000012.11:g.125348246C>G	(Likely) benign	1 lab	80b5fa7949
2:189950562 COL5A2 T>C	2	189950562	189950562	T	C	COL5A2	c.691-64A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189950562T>C	(Likely) benign	1 lab	80b7f6f2c3
7:150648813 KCNH2 G>A	7	150648813	150648813	G	A	KCNH2	c.1668C>T	NM_000238.4	NP_000229.1:p.(Thr556=)	NC_000007.13:g.150648813G>A	(Likely) benign	1 lab	80b810f6a1
14:105169760 INF2 C>T	14	105169760	105169760	C	T	INF2	c.636C>T	NM_022489.4	NP_071934.3:p.(Arg212=)	NC_000014.8:g.105169760C>T	(Likely) benign	1 lab	80ba09fb71
16:67976586 LCAT G>A	16	67976586	67976586	G	A	LCAT	c.511C>T	NM_000229.2	NP_000220.1:p.(Arg171Trp)	NC_000016.9:g.67976586G>A	(Likely) pathogenic	1 lab	80be77f75c
12:49420209 KMT2D C>G	12	49420209	49420209	C	G	KMT2D	c.15540G>C	NM_003482.4	NP_003473.3:p.(Val5180=)	NC_000012.11:g.49420209C>G	(Likely) benign	1 lab	80c483e3b9
22:50659292 TUBGCP6 C>T	22	50659292	50659292	C	T	TUBGCP6	c.3496G>A	NM_020461.4	NP_065194.3:p.(Asp1166Asn)	NC_000022.10:g.50659292C>T	(Likely) benign	1 lab	80c623c8cc
2:219646900 CYP27A1 C>T	2	219646900	219646900	C	T	CYP27A1	c.-6C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646900C>T	(Likely) benign	1 lab	80c7f6bf81
12:125302182 SCARB1 G>A	12	125302182	125302182	G	A	SCARB1	c.198C>T	NM_001367981.1	NP_001354910.1:p.(Ser66=)	NC_000012.11:g.125302182G>A	(Likely) benign	1 lab	80c9142c73
1:169454849 SLC19A2 G>A	1	169454849	169454849	G	A	SLC19A2	c.156C>T	NM_006996.3	NP_008927.1:p.(Phe52=)	NC_000001.10:g.169454849G>A	(Likely) benign	1 lab	80c95001a6
1:982953 AGRN C>T	1	982953	982953	C	T	AGRN	c.3517C>T	NM_001305275.2	NP_001292204.1:p.(Leu1173=)	NC_000001.10:g.982953C>T	(Likely) benign	1 lab	80c9ad663d
17:40849288 CNTNAP1 T>C	17	40849288	40849288	T	C	CNTNAP1	c.3475-4T>C	NM_003632.3	NP_003623.1:p.?	NC_000017.10:g.40849288T>C	(Likely) benign	1 lab	80c9e94c96
2:21227953 APOB A>G	2	21227953	21227953	A	G	APOB	c.11787T>C	NM_000384.3	NP_000375.3:p.(Asn3929=)	NC_000002.11:g.21227953A>G	(Likely) benign	1 lab	80cad4ff00
2:21228945 APOB G>A	2	21228945	21228945	G	A	APOB	c.10795C>T	NM_000384.3	NP_000375.3:p.(Leu3599Phe)	NC_000002.11:g.21228945G>A	VUS	1 lab	80caf856c7
17:68172215 KCNJ2 C>T	17	68172215	68172215	C	T	KCNJ2	c.1035C>T	NM_000891.3	NP_000882.1:p.(His345=)	NC_000017.10:g.68172215C>T	(Likely) benign	1 lab	80cb0eb3f4
1:201021685 CACNA1S C>G	1	201021685	201021685	C	G	CACNA1S	c.3953G>C	NM_000069.3	NP_000060.2:p.(Arg1318Thr)	NC_000001.10:g.201021685C>G	VUS	1 lab	80cd4802c5
17:15142892 PMP22 G>C	17	15142892	15142892	G	C	PMP22	c.215C>G	NM_000304.4	NP_000295.1:p.(Ser72Trp)	NC_000017.10:g.15142892G>C	(Likely) pathogenic	1 lab	80cf12f4ef
13:32931912 BRCA2 A>C	13	32931912	32931912	A	C	BRCA2	c.7651A>C	NM_000059.4	NP_000050.3:p.(Lys2551Gln)	NC_000013.10:g.32931912A>C	(Likely) benign	1 lab	80d1e5f0bf
8:144297000 GPIHBP1 C>T	8	144297000	144297000	C	T	GPIHBP1	c.294C>T	NM_178172.6	NP_835466.2:p.(Thr98=)	NC_000008.10:g.144297000C>T	(Likely) benign	1 lab	80d3b80c0e
19:45452472 APOC2 A>AC	19	45452472	45452474	A	AC	APOC2	c.274dup	NM_000483.5	NP_000474.2:p.(Gln92ProfsTer28)	NC_000019.9:g.45452474dup	(Likely) pathogenic	1 lab	80d41959a5
10:88679021 BMPR1A C>T	10	88679021	88679021	C	T	BMPR1A	c.961C>T	NM_004329.3	NP_004320.2:p.(Leu321=)	NC_000010.10:g.88679021C>T	(Likely) benign	1 lab	80d50ea916
9:117655098 MISSING T>Alt too long to show for this DUP	9	117655098	117857678	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.117655099_117857678dup	VUS	1 lab	80d5123557
1:63067566 ANGPTL3 T>A	1	63067566	63067566	T	A	ANGPTL3	c.835+13T>A	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63067566T>A	(Likely) benign	1 lab	80d524e2ba
6:16144079 MYLIP C>T	6	16144079	16144079	C	T	MYLIP	c.812C>T	NM_013262.4	NP_037394.2:p.(Thr271Met)	NC_000006.11:g.16144079C>T	VUS	1 lab	80d5c3a2d0
10:90974776 LIPA T>C	10	90974776	90974776	T	C	LIPA	c.1009A>G	NM_000235.4	NP_000226.2:p.(Thr337Ala)	NC_000010.10:g.90974776T>C	VUS	1 lab	80d6c99802
2:108627094 SLC5A7 T>A	2	108627094	108627094	T	A	SLC5A7	c.1520T>A	NM_021815.5	NP_068587.1:p.(Leu507Ter)	NC_000002.11:g.108627094T>A	(Likely) pathogenic	1 lab	80d9d174e0
3:123166964 ADCY5 AGCCGCCGCCGCCGAGCC>A	3	123166964	123166993	AGCCGCCGCCGCCGAGCC	A	ADCY5	c.412_428del	NM_183357.3	NP_899200.1:p.(Gly138CysfsTer184)	NC_000003.11:g.123166977_123166993del	VUS	1 lab	80dbfdc2c4
9:113234618 SVEP1 CAG>C	9	113234618	113234623	CAG	C	SVEP1	c.2600-17_2600-16del	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113234622_113234623del	(Likely) benign	1 lab	80dffdc363
11:8118824 TUB T>C	11	8118824	8118824	T	C	TUB	c.902T>C	NM_003320.5	NP_003311.2:p.(Val301Ala)	NC_000011.9:g.8118824T>C	(Likely) benign	1 lab	80e0f2ec35
16:920052 LMF1 C>T	16	920052	920052	C	T	LMF1	c.848G>A	NM_001352018.2	NP_001338947.1:p.(Arg283Gln)	NC_000016.9:g.920052C>T	(Likely) benign	1 lab	80e120ecb0
13:100962169 PCCA A>G	13	100962169	100962169	A	G	PCCA	c.1429+7A>G	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100962169A>G	(Likely) benign	1 lab	80e2ccd07f
11:116707879 APOA1 G>A	11	116707879	116707879	G	A	APOA1	c.-240-50C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707879G>A	(Likely) benign	1 lab	80e3919ba3
12:22066017 ABCC9 G>A	12	22066017	22066017	G	A	ABCC9	c.817-17C>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066017G>A	(Likely) benign	1 lab	80e41d6a2c
1:43166630 YBX1 G>A	1	43166630	43166630	G	A	YBX1	c.919G>A	NM_004559.5	NP_004550.2:p.(Asp307Asn)	NC_000001.10:g.43166630G>A	(Likely) benign	1 lab	80e87cecd8
16:88788477 PIEZO1 A>G	16	88788477	88788477	A	G	PIEZO1	c.4956-3T>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88788477A>G	(Likely) benign	1 lab	80e8848cb1
3:38753640 SCN10A T>C	3	38753640	38753640	T	C	SCN10A	c.4089+12A>G	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38753640T>C	(Likely) benign	1 lab	80ea09c1b6
9:107647106 ABCA1 C>T	9	107647106	107647106	C	T	ABCA1	c.161-257G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647106C>T	(Likely) benign	1 lab	80ea29a8fc
12:57418911 MISSING C>Alt too long to show for this DUP	12	57418911	57564037	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.57418913_57564037dup	VUS	1 lab	80eda09816
15:80914316 MISSING A>Alt too long to show for this DUP	15	80914316	81442773	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.80914318_81442773dup	(Likely) pathogenic	1 lab	80ee9f159b
X:77001791 ATRX Ref too long to show for this DEL>A	X	77001791	77002185	Ref too long to show for this DEL	A	ATRX	c.21-29465_21-29072del	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.77001792_77002185del	VUS	1 lab	80eec90137
6:32017349 TNXB C>G	6	32017349	32017349	C	G	TNXB	c.9449G>C	NM_019105.8	NP_061978.6:p.(Ser3150Thr)	NC_000006.11:g.32017349C>G	VUS	1 lab	80f0e8d302
10:92678748 ANKRD1 A>AATATATATAT	10	92678748	92678773	A	AATATATATAT	ANKRD1	c.346-29_346-20dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678764_92678773dup	(Likely) benign	1 lab	80f21a766d
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTT	CACNB2	c.37-19_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439793_18439809dup	(Likely) benign	1 lab	80f447d814
11:47372282 MYBPC3 C>G	11	47372282	47372282	C	G	MYBPC3	c.293-116G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372282C>G	(Likely) benign	1 lab	80f489d987
9:107546274 ABCA1 CA>C	9	107546274	107546290	CA	C	ABCA1	c.*321del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546290del	(Likely) benign	1 lab	80f4961e82
2:21247946 APOB C>T	2	21247946	21247946	C	T	APOB	c.2295G>A	NM_000384.3	NP_000375.3:p.(Leu765=)	NC_000002.11:g.21247946C>T	(Likely) benign	1 lab	80fb6c7720
X:100653011 GLA A>G	X	100653011	100653011	A	G	GLA	c.1076T>C	NM_000169.3	NP_000160.1:p.(Ile359Thr)	NC_000023.10:g.100653011A>G	VUS	1 lab	80fc4ce411
2:179436129 TTN A>T	2	179436129	179436129	A	T	TTN	c.74730T>A	NM_001267550.2	NP_001254479.2:p.(Gly24910=)	NC_000002.11:g.179436129A>T	(Likely) benign	1 lab	81011fd6d4
9:101905004 TGFBR1 C>A	9	101905004	101905004	C	A	TGFBR1	c.973+19C>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101905004C>A	(Likely) benign	1 lab	810179202f
22:50893107 SBF1 A>G	22	50893107	50893107	A	G	SBF1	c.4877T>C	NM_002972.4	NP_002963.2:p.(Leu1626Pro)	NC_000022.10:g.50893107A>G	VUS	1 lab	81023c2669
15:85406880 ALPK3 G>A	15	85406880	85406880	G	A	ALPK3	c.4499+9G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406880G>A	(Likely) benign	1 lab	8102a3ca06
3:189692340 P3H2 T>A	3	189692340	189692340	T	A	P3H2	c.1452+7A>T	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189692340T>A	(Likely) benign	1 lab	81069b3d15
2:31375307 MISSING Ref too long to show for this DEL>T	2	31375307	31397332	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.31375308_31397332del	VUS	1 lab	8106c13ddc
X:18631355 CDKL5 G>A	X	18631355	18631355	G	A	CDKL5	c.2236G>A	NM_003159.3	NP_003150.1:p.(Gly746Arg)	NC_000023.10:g.18631355G>A	VUS	1 lab	81081b76ed
9:107650992 ABCA1 G>A	9	107650992	107650992	G	A	ABCA1	c.160+391C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107650992G>A	(Likely) benign	1 lab	810821c13f
14:95577701 DICER1 G>A	14	95577701	95577701	G	A	DICER1	c.2209C>T	NM_177438.3	NP_803187.1:p.(Pro737Ser)	NC_000014.8:g.95577701G>A	(Likely) benign	1 lab	810983f5ba
17:41215926 BRCA1 C>T	17	41215926	41215926	C	T	BRCA1	c.5117G>A	NM_007294.4	NP_009225.1:p.(Gly1706Glu)	NC_000017.10:g.41215926C>T	(Likely) pathogenic	1 lab	8109bdc6fc
19:7614912 PNPLA6 G>T	19	7614912	7614912	G	T	PNPLA6	c.1755G>T	NM_001166111.2	NP_001159583.1:p.(Ala585=)	NC_000019.9:g.7614912G>T	(Likely) benign	1 lab	810b1582c2
10:90982081 LIPA A>G	10	90982081	90982081	A	G	LIPA	c.894+187T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90982081A>G	(Likely) benign	1 lab	810b9d6d5e
12:21355576 SLCO1B1 C>CATATT	12	21355576	21355577	C	CATATT	SLCO1B1	c.1287_1288insATATT	NM_006446.5	NP_006437.3:p.(Cys430IlefsTer11)	NC_000012.11:g.21355576_21355577insATATT	(Likely) benign	1 lab	810bdfd874
9:137714971 COL5A1 G>A	9	137714971	137714971	G	A	COL5A1	c.4644+92G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137714971G>A	(Likely) benign	1 lab	8113741143
X:70444136 GJB1 C>G	X	70444136	70444136	C	G	GJB1	c.579C>G	NM_000166.6	NP_000157.1:p.(Phe193Leu)	NC_000023.10:g.70444136C>G	(Likely) pathogenic	1 lab	8114a69154
2:21247830 APOB C>T	2	21247830	21247830	C	T	APOB	c.2411G>A	NM_000384.3	NP_000375.3:p.(Arg804His)	NC_000002.11:g.21247830C>T	VUS	1 lab	8116cc30e1
17:1674429 SERPINF1 T>C	17	1674429	1674429	T	C	SERPINF1	c.390T>C	NM_002615.7	NP_002606.3:p.(Thr130=)	NC_000017.10:g.1674429T>C	(Likely) benign	1 lab	8118149da4
16:71212917 HYDIN G>A	16	71212917	71212917	G	A	HYDIN	c.295C>T	NM_001270974.2	NP_001257903.1:p.(Gln99Ter)	NC_000016.9:g.71212917G>A	(Likely) pathogenic	1 lab	8119e0a383
12:125267256 SCARB1 G>T	12	125267256	125267256	G	T	SCARB1	c.1503C>A	NM_001367989.1	NP_001354918.1:p.(Gly501=)	NC_000012.11:g.125267256G>T	(Likely) benign	1 lab	811f72a3a2
8:133923779 TG G>T	8	133923779	133923779	G	T	TG	c.4159+1G>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133923779G>T	(Likely) pathogenic	1 lab	8123507afe
2:212945562 ERBB4 Ref too long to show for this DEL>G	2	212945562	213054178	Ref too long to show for this DEL	G	ERBB4	c.83-64548_234+43914del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212945565_213054178del	(Likely) pathogenic	1 lab	81243a8c36
15:58837955 LIPC G>C	15	58837955	58837955	G	C	LIPC	c.589G>C	NM_000236.3	NP_000227.2:p.(Gly197Arg)	NC_000015.9:g.58837955G>C	VUS	1 lab	8124b47878
2:44102535 ABCG8 T>C	2	44102535	44102535	T	C	ABCG8	c.1739T>C	NM_022437.3	NP_071882.1:p.(Leu580Ser)	NC_000002.11:g.44102535T>C	VUS	1 lab	8128fdb0b4
15:89876827 POLG TTGCTGC>T	15	89876827	89876860	TTGCTGC	T	POLG	c.153_158del	NM_002693.3	NP_002684.1:p.(Gln54_Gln55del)	NC_000015.9:g.89876855_89876860del	(Likely) benign	1 lab	812a3f0756
22:38120429 TRIOBP T>C	22	38120429	38120429	T	C	TRIOBP	c.1866T>C	NM_001039141.3	NP_001034230.1:p.(Asp622=)	NC_000022.10:g.38120429T>C	(Likely) benign	1 lab	812a7d54ff
1:3342649 PRDM16 G>T	1	3342649	3342649	G	T	PRDM16	c.3144G>T	NM_022114.4	NP_071397.3:p.(Leu1048=)	NC_000001.10:g.3342649G>T	(Likely) benign	1 lab	812b0fc5a6
4:110158710 MISSING A>Alt too long to show for this DUP	4	110158710	110386444	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.110158712_110386444dup	VUS	1 lab	812c092599
11:47353994 MYBPC3 C>T	11	47353994	47353994	C	T	MYBPC3	c.3627+123G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353994C>T	(Likely) benign	1 lab	812d8ed4cf
5:70247901 SMN1 T>G	5	70247901	70247901	T	G	SMN1	c.*3+80T>G	NM_000344.3	NP_000335.1:p.?	NC_000005.9:g.70247901T>G	(Likely) pathogenic	1 lab	8131ca71a1
2:44059132 ABCG5 G>A	2	44059132	44059132	G	A	ABCG5	c.356C>T	NM_022436.3	NP_071881.1:p.(Ala119Val)	NC_000002.11:g.44059132G>A	VUS	1 lab	81333fb286
17:7577058 TP53 C>CCCCTTTCTTG	17	7577058	7577069	C	CCCCTTTCTTG	TP53	c.870_879dup	NM_000546.6	NP_000537.3:p.(Glu294GlnfsTer15)	NC_000017.10:g.7577060_7577069dup	(Likely) pathogenic	1 lab	81393855eb
X:13779124 OFD1 G>A	X	13779124	13779124	G	A	OFD1	c.2261-80G>A	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13779124G>A	(Likely) benign	1 lab	813beca91f
2:190926859 MSTN GT>G	2	190926859	190926862	GT	G	MSTN	c.373+90del	NM_005259.3	NP_005250.1:p.?	NC_000002.11:g.190926862del	(Likely) benign	1 lab	813c157c2a
3:129546679 TMCC1 TGCA>T	3	129546679	129546703	TGCA	T	TMCC1	c.540_542del	NM_001017395.5	NP_001017395.2:p.(Ala181del)	NC_000003.11:g.129546701_129546703del	(Likely) benign	1 lab	813c300c1f
3:9785524 BRPF1 T>TGACAAGGATGGGCA	3	9785524	9785542	T	TGACAAGGATGGGCA	BRPF1	c.2579_2592dup	NM_001003694.2	NP_001003694.1:p.(Asp865ArgfsTer66)	NC_000003.11:g.9785529_9785542dup	(Likely) pathogenic	1 lab	8141f29e75
7:36934448 ELMO1 A>G	7	36934448	36934448	A	G	ELMO1	c.1601+11T>C	NM_001206482.2	NP_001193411.1:p.?	NC_000007.13:g.36934448A>G	(Likely) benign	1 lab	8144e7f271
3:38639288 SCN5A G>C	3	38639288	38639288	G	C	SCN5A	c.2194C>G	NM_198056.3	NP_932173.1:p.(Leu732Val)	NC_000003.11:g.38639288G>C	VUS	1 lab	8149b40a71
18:28651736 DSC2 C>T	18	28651736	28651736	C	T	DSC2	c.1960G>A	NM_024422.6	NP_077740.1:p.(Asp654Asn)	NC_000018.9:g.28651736C>T	VUS	1 lab	814ca5c4c5
16:49669712 ZNF423 A>G	16	49669712	49669712	A	G	ZNF423	c.3375T>C	NM_001379286.1	NP_001366215.1:p.(Cys1125=)	NC_000016.9:g.49669712A>G	(Likely) benign	1 lab	814e67c08b
5:127641734 FBN2 T>C	5	127641734	127641734	T	C	FBN2	c.5423-94A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641734T>C	(Likely) benign	1 lab	8150cb1f58
10:69375002 CTNNA3 Ref too long to show for this DEL>C	10	69375002	69413270	Ref too long to show for this DEL	C	CTNNA3	c.-5-5993_100-8196del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69375004_69413270del	VUS	1 lab	8153e6829c
20:13053018 SPTLC3 T>G	20	13053018	13053018	T	G	SPTLC3	c.418T>G	NM_018327.4	NP_060797.2:p.(Leu140Val)	NC_000020.10:g.13053018T>G	(Likely) benign	1 lab	815cdcab51
18:47107873 LIPG C>T	18	47107873	47107873	C	T	LIPG	c.882C>T	NM_006033.4	NP_006024.1:p.(Ala294=)	NC_000018.9:g.47107873C>T	(Likely) benign	1 lab	815eb9f377
2:169951929 MISSING Ref too long to show for this DEL>G	2	169951929	169963586	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.169951931_169963586del	VUS	1 lab	815fc83305
6:108915544 MISSING A>Alt too long to show for this DUP	6	108915544	109209380	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.108915547_109209380dup	VUS	1 lab	8163cff2e4
X:70439000 GJB1 CTTATTATTA>C	X	70439000	70439038	CTTATTATTA	C	GJB1	c.-17+3890_-17+3898del	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439030_70439038del	(Likely) benign	1 lab	8169c143ba
19:11143955 SMARCA4 T>C	19	11143955	11143955	T	C	SMARCA4	c.3547-11T>C	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11143955T>C	(Likely) benign	1 lab	816be2a781
1:156084808 LMNA G>T	1	156084808	156084808	G	T	LMNA	c.99G>T	NM_170707.4	NP_733821.1:p.(Glu33Asp)	NC_000001.10:g.156084808G>T	(Likely) pathogenic	1 lab	816d7c0480
X:70443029 GJB1 T>C	X	70443029	70443029	T	C	GJB1	c.-16-513T>C	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70443029T>C	(Likely) pathogenic	1 lab	81723f8832
16:931686 LMF1 T>C	16	931686	931686	T	C	LMF1	c.331-1949A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.931686T>C	(Likely) benign	1 lab	8174768b22
5:127800393 FBN2 T>C	5	127800393	127800393	T	C	FBN2	c.826+24A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800393T>C	(Likely) benign	1 lab	81751f643b
9:113191533 SVEP1 C>T	9	113191533	113191533	C	T	SVEP1	c.5697G>A	NM_153366.4	NP_699197.3:p.(Val1899=)	NC_000009.11:g.113191533C>T	(Likely) benign	1 lab	8175aa9813
2:21228535 APOB C>T	2	21228535	21228535	C	T	APOB	c.11205G>A	NM_000384.3	NP_000375.3:p.(Leu3735=)	NC_000002.11:g.21228535C>T	(Likely) benign	1 lab	8175e275f0
1:115576721 TSHB A>G	1	115576721	115576721	A	G	TSHB	c.290A>G	NM_000549.5	NP_000540.2:p.(Tyr97Cys)	NC_000001.10:g.115576721A>G	VUS	1 lab	8176d82f1e
2:44079931 ABCG8 G>T	2	44079931	44079931	G	T	ABCG8	c.888G>T	NM_022437.3	NP_071882.1:p.(Ala296=)	NC_000002.11:g.44079931G>T	(Likely) benign	1 lab	817946761c
14:23895301 MYH7 A>C	14	23895301	23895301	A	C	MYH7	c.2045-11T>G	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23895301A>C	(Likely) benign	1 lab	817d62e64c
2:179857169 CCDC141 Ref too long to show for this DEL>T	2	179857169	179873921	Ref too long to show for this DEL	T	CCDC141	c.226-30519_226-13768del	NM_173648.4	NP_775919.3:p.?	NC_000002.11:g.179857170_179873921del	VUS	1 lab	81812a0942
19:36546013 WDR62 G>GA	19	36546013	36546014	G	GA	WDR62				NC_000019.9:g.36546014dup	(Likely) pathogenic	1 lab	818301b6ac
1:63069706 ANGPTL3 T>C	1	63069706	63069706	T	C	ANGPTL3	c.998T>C	NM_014495.4	NP_055310.1:p.(Ile333Thr)	NC_000001.10:g.63069706T>C	VUS	1 lab	81863f8ae2
16:88503251 ZNF469 C>T	16	88503251	88503251	C	T	ZNF469	c.9373C>T	NM_001367624.2	NP_001354553.1:p.(Arg3125Cys)	NC_000016.9:g.88503251C>T	(Likely) benign	1 lab	818c3ae7bc
15:67358493 SMAD3 A>T	15	67358493	67358493	A	T	SMAD3				NC_000015.9:g.67358493A>T	(Likely) pathogenic	1 lab	be0e3815c1
4:88537447 DSPP T>C	4	88537447	88537447	T	C	DSPP	c.3633T>C	NM_014208.3	NP_055023.2:p.(Ser1211=)	NC_000004.11:g.88537447T>C	(Likely) benign	1 lab	818cda7eef
1:236907779 ACTN2 C>T	1	236907779	236907779	C	T	ACTN2	c.1256-147C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236907779C>T	(Likely) benign	1 lab	818db0e6ff
11:108155044 ATM GA>G	11	108155044	108155048	GA	G	ATM	c.3841del	NM_000051.4	NP_000042.3:p.(Ser1281ValfsTer3)	NC_000011.9:g.108155048del	(Likely) pathogenic	1 lab	8192c121f6
11:47355506 MYBPC3 G>A	11	47355506	47355506	G	A	MYBPC3	c.2961C>T	NM_000256.3	NP_000247.2:p.(Val987=)	NC_000011.9:g.47355506G>A	(Likely) benign	1 lab	81938a0baf
18:47095858 LIPG G>A	18	47095858	47095858	G	A	LIPG	c.511G>A	NM_006033.4	NP_006024.1:p.(Gly171Arg)	NC_000018.9:g.47095858G>A	VUS	1 lab	81984c3aa2
8:144295584 GPIHBP1 G>C	8	144295584	144295584	G	C	GPIHBP1	c.53-113G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295584G>C	(Likely) benign	1 lab	819ace52c4
1:76649724 ST6GALNAC3 Ref too long to show for this DEL>C	1	76649724	76866910	Ref too long to show for this DEL	C	ST6GALNAC3	c.18+109156_214-10783del	NM_152996.4	NP_694541.2:p.?	NC_000001.10:g.76649725_76866910del	VUS	1 lab	819e34725d
16:918862 LMF1 G>A	16	918862	918862	G	A	LMF1	c.1130+82C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918862G>A	(Likely) benign	1 lab	819e57b2e4
3:53760941 CACNA1D C>T	3	53760941	53760941	C	T	CACNA1D	c.2196C>T	NM_000720.4	NP_000711.1:p.(Tyr732=)	NC_000003.11:g.53760941C>T	(Likely) benign	1 lab	81a18eabce
9:107607808 ABCA1 C>T	9	107607808	107607808	C	T	ABCA1	c.763G>A	NM_005502.4	NP_005493.2:p.(Ala255Thr)	NC_000009.11:g.107607808C>T	(Likely) benign	1 lab	81a388845d
4:147215190 SLC10A7 T>C	4	147215190	147215190	T	C	SLC10A7	c.613A>G	NM_001029998.6	NP_001025169.1:p.(Ile205Val)	NC_000004.11:g.147215190T>C	(Likely) benign	1 lab	81a9c77cb9
10:121429598 BAG3 G>A	10	121429598	121429598	G	A	BAG3	c.416G>A	NM_004281.4	NP_004272.2:p.(Arg139Gln)	NC_000010.10:g.121429598G>A	VUS	1 lab	81abb040b0
3:184071548 CLCN2 C>T	3	184071548	184071548	C	T	CLCN2	c.1757G>A	NM_004366.6	NP_004357.3:p.(Arg586Gln)	NC_000003.11:g.184071548C>T	VUS	1 lab	81adee1bb8
2:179472986 TTN AG>A	2	179472986	179472987	AG	A	TTN	c.52623del	NM_001267550.2	NP_001254479.2:p.(Phe17542SerfsTer47)	NC_000002.11:g.179472987del	(Likely) pathogenic	1 lab	81af7c84f5
20:2448252 SNRPB C>T	20	2448252	2448252	C	T	SNRPB	c.155+1G>A	NM_198216.2	NP_937859.1:p.?	NC_000020.10:g.2448252C>T	VUS	1 lab	81b2e98143
17:17700978 RAI1 G>A	17	17700978	17700978	G	A	RAI1	c.4716G>A	NM_030665.4	NP_109590.3:p.(Glu1572=)	NC_000017.10:g.17700978G>A	(Likely) benign	1 lab	81b5a8aec6
12:78511877 NAV3 CAGA>C	12	78511877	78511886	CAGA	C	NAV3	c.2847_2849del	NM_001024383.2	NP_001019554.1:p.(Glu949del)	NC_000012.11:g.78511884_78511886del	VUS	1 lab	81b5d092d6
20:45353695 SLC2A10 TC>T	20	45353695	45353697	TC	T	SLC2A10	c.22del	NM_030777.4	NP_110404.1:p.(Leu8CysfsTer13)	NC_000020.10:g.45353697del	(Likely) pathogenic	1 lab	81b8699763
22:20719111 MISSING Ref too long to show for this DEL>C	22	20719111	21464119	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.20719112_21464119del	(Likely) pathogenic	1 lab	81b8d3ccdf
1:3342602 PRDM16 C>T	1	3342602	3342602	C	T	PRDM16	c.3110-13C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342602C>T	(Likely) benign	1 lab	81bb65583a
X:117880922 IL13RA1 Ref too long to show for this DEL>A	X	117880922	117907834	Ref too long to show for this DEL	A	IL13RA1	c.235_1010-8del	NM_001560.3	NP_001551.1:p.?	NC_000023.10:g.117880923_117907834del	VUS	1 lab	81bc4cf743
8:27319796 MISSING C>Alt too long to show for this DUP	8	27319796	27402395	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.27319797_27402395dup	VUS	1 lab	81bd763a7f
11:48346541 OR4C3 A>T	11	48346541	48346541	A	T	OR4C3	c.-33A>T	NM_001004702.2	NP_001004702.2:p.?	NC_000011.9:g.48346541A>T	(Likely) benign	1 lab	81bf896c38
8:19813384 LPL C>G	8	19813384	19813384	C	G	LPL	c.808C>G	NM_000237.3	NP_000228.1:p.(Arg270Gly)	NC_000008.10:g.19813384C>G	(Likely) pathogenic	1 lab	81c471427b
8:125487474 RNF139 C>G	8	125487474	125487474	C	G	RNF139	c.124C>G	NM_007218.4	NP_009149.2:p.(Pro42Ala)	NC_000008.10:g.125487474C>G	VUS	1 lab	81c6bb1fb6
16:921744 LMF1 G>C	16	921744	921744	G	C	LMF1	c.499-403C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921744G>C	(Likely) benign	1 lab	81c6c2b73f
2:198267360 SF3B1 T>G	2	198267360	198267360	T	G	SF3B1	c.1997A>C	NM_012433.4	NP_036565.2:p.(Lys666Thr)	NC_000002.11:g.198267360T>G	VUS	1 lab	81cc03cc41
2:230664071 TRIP12 G>A	2	230664071	230664071	G	A	TRIP12	c.3235C>T	NM_001348325.2	NP_001335254.1:p.(Arg1079Ter)	NC_000002.11:g.230664071G>A	(Likely) pathogenic	1 lab	81cd3580b1
22:38541468 PLA2G6 G>A	22	38541468	38541468	G	A	PLA2G6	c.402C>T	NM_001349864.2	NP_001336793.1:p.(Cys134=)	NC_000022.10:g.38541468G>A	(Likely) benign	1 lab	81d0372e52
2:21241642 APOB T>C	2	21241642	21241642	T	C	APOB	c.3121+222A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241642T>C	(Likely) benign	1 lab	81d38f9185
2:68788076 APLF Ref too long to show for this DEL>T	2	68788076	68804279	Ref too long to show for this DEL	T	APLF	c.1287-6395_1334-673del	NM_173545.3	NP_775816.1:p.?	NC_000002.11:g.68788078_68804279del	VUS	1 lab	81d9ab5e5f
5:133959194 SAR1B T>TAA	5	133959194	133959211	T	TAA	SAR1B	c.58+456_58+457dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133959210_133959211dup	(Likely) benign	1 lab	81daa4a9fb
5:89949276 ADGRV1 T>G	5	89949276	89949276	T	G	ADGRV1	c.3885T>G	NM_032119.4	NP_115495.3:p.(Gly1295=)	NC_000005.9:g.89949276T>G	(Likely) benign	1 lab	81dad829ea
2:179486353 TTN C>T	2	179486353	179486353	C	T	TTN	c.45198G>A	NM_001267550.2	NP_001254479.2:p.(Gly15066=)	NC_000002.11:g.179486353C>T	(Likely) benign	1 lab	81dbb8b5ea
11:17481948 ABCC8 T>C	11	17481948	17481948	T	C	ABCC8	c.1011+87A>G	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17481948T>C	(Likely) benign	1 lab	81deac2cff
6:32036665 TNXB G>A	6	32036665	32036665	G	A	TNXB	c.5836C>T	NM_019105.8	NP_061978.6:p.(Leu1946=)	NC_000006.11:g.32036665G>A	(Likely) benign	1 lab	81e1384c2c
1:111661412 DRAM2 A>G	1	111661412	111661412	A	G	DRAM2	c.693+15T>C	NM_178454.6	NP_848549.3:p.?	NC_000001.10:g.111661412A>G	(Likely) benign	1 lab	81e44f7acc
X:70443823 GJB1 T>C	X	70443823	70443823	T	C	GJB1	c.266T>C	NM_000166.6	NP_000157.1:p.(Leu89Pro)	NC_000023.10:g.70443823T>C	(Likely) pathogenic	1 lab	81e4c1d195
5:125887796 ALDH7A1 T>C	5	125887796	125887796	T	C	ALDH7A1	c.1234A>G	NM_001182.5	NP_001173.2:p.(Thr412Ala)	NC_000005.9:g.125887796T>C	(Likely) benign	1 lab	81e5d21668
10:73461984 CDH23 G>A	10	73461984	73461984	G	A	CDH23	c.2587+16G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73461984G>A	(Likely) benign	1 lab	81e7e2fa42
2:62053619 FAM161A C>T	2	62053619	62053619	C	T	FAM161A	c.2122G>A	NM_001201543.2	NP_001188472.1:p.(Glu708Lys)	NC_000002.11:g.62053619C>T	(Likely) benign	1 lab	81ebfded3d
18:58039115 MC4R C>T	18	58039115	58039115	C	T	MC4R	c.468G>A	NM_005912.3	NP_005903.2:p.(Gln156=)	NC_000018.9:g.58039115C>T	(Likely) benign	1 lab	81f0f9f27a
6:75834906 COL12A1 C>T	6	75834906	75834906	C	T	COL12A1	c.6544G>A	NM_004370.6	NP_004361.3:p.(Val2182Met)	NC_000006.11:g.75834906C>T	VUS	1 lab	81f14a2e62
2:112779917 MERTK A>T	2	112779917	112779917	A	T	MERTK	c.2432A>T	NM_006343.3	NP_006334.2:p.(Asp811Val)	NC_000002.11:g.112779917A>T	VUS	1 lab	81f510e77d
6:109311389 SESN1 G>Alt too long to show for this DUP	6	109311389	109324814	G	Alt too long to show for this DUP	SESN1	c.280-1268_1424+458dup	NM_014454.3	NP_055269.1:p.?	NC_000006.11:g.109311390_109324814dup	VUS	1 lab	81f6553fb6
9:67927052 ANKRD20A1 G>A	9	67927052	67927052	G	A	ANKRD20A1	c.180G>A	NM_032250.5	NP_115626.2:p.(Leu60=)	NC_000009.11:g.67927052G>A	(Likely) benign	1 lab	81f750faaa
5:148407996 SH3TC2 C>G	5	148407996	148407996	C	G	SH3TC2	c.1299G>C	NM_024577.4	NP_078853.2:p.(Ser433=)	NC_000005.9:g.148407996C>G	(Likely) benign	1 lab	81f87ecef5
2:21232645 APOB G>T	2	21232645	21232645	G	T	APOB	c.7095C>A	NM_000384.3	NP_000375.3:p.(Ala2365=)	NC_000002.11:g.21232645G>T	(Likely) benign	1 lab	81f890e47a
9:19276906 DENND4C Ref too long to show for this DEL>A	9	19276906	19304073	Ref too long to show for this DEL	A	DENND4C	c.305+431_1312-1277del	NM_001330640.2	NP_001317569.1:p.?	NC_000009.11:g.19276908_19304073del	VUS	1 lab	81fb9a5649
2:179647707 TTN A>G	2	179647707	179647707	A	G	TTN	c.2926T>C	NM_133378.4	NP_596869.4:p.(Trp976Arg)	NC_000002.11:g.179647707A>G	(Likely) pathogenic	1 lab	81fc3105d2
1:78394984 NEXN ATTGT>A	1	78394984	78394990	ATTGT	A	NEXN	c.865-14_865-11del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78394987_78394990del	VUS	1 lab	81ff3d52d6
6:75893331 COL12A1 C>T	6	75893331	75893331	C	T	COL12A1	c.1326G>A	NM_004370.6	NP_004361.3:p.(Val442=)	NC_000006.11:g.75893331C>T	(Likely) benign	1 lab	81ff4e05c1
6:157100550 ARID1B G>C	6	157100550	157100550	G	C	ARID1B	c.1736G>C	NM_001371656.1	NP_001358585.1:p.(Arg579Thr)	NC_000006.11:g.157100550G>C	VUS	1 lab	81ffd894e9
8:82713832 SNX16 CAA>C	8	82713832	82713848	CAA	C	SNX16	c.939-6_939-5del	NM_022133.4	NP_071416.2:p.?	NC_000008.10:g.82713847_82713848del	(Likely) benign	1 lab	820340d41f
5:127728651 FBN2 T>C	5	127728651	127728651	T	C	FBN2	c.1465+177A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127728651T>C	(Likely) benign	1 lab	820cf29bb4
4:114294464 ANK2 G>A	4	114294464	114294464	G	A	ANK2	c.11718G>A	NM_001148.6	NP_001139.3:p.(Arg3906=)	NC_000004.11:g.114294464G>A	(Likely) benign	1 lab	82100246d2
11:116701579 APOC3 G>T	11	116701579	116701579	G	T	APOC3	c.146G>T	NM_000040.3	NP_000031.1:p.(Ser49Ile)	NC_000011.9:g.116701579G>T	VUS	1 lab	82109c8820
17:33434075 RAD51D T>G	17	33434075	33434075	T	G	RAD51D	c.412A>C	NM_002878.4	NP_002869.3:p.(Asn138His)	NC_000017.10:g.33434075T>G	VUS	1 lab	8211ca9b10
6:41166017 TREML2 C>T	6	41166017	41166017	C	T	TREML2	c.206G>A	NM_024807.4	NP_079083.2:p.(Arg69Gln)	NC_000006.11:g.41166017C>T	(Likely) benign	1 lab	82360a8732
14:79483885 NRXN3 Ref too long to show for this DEL>A	14	79483885	79511361	Ref too long to show for this DEL	A	NRXN3	c.3262+29402_3262+56877del	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79483886_79511361del	VUS	1 lab	821806b985
9:100616425 FOXE1 G>A	9	100616425	100616425	G	A	FOXE1	c.229G>A	NM_004473.4	NP_004464.2:p.(Gly77Ser)	NC_000009.11:g.100616425G>A	VUS	1 lab	8218da604d
2:21245913 APOB A>G	2	21245913	21245913	A	G	APOB	c.2606T>C	NM_000384.3	NP_000375.3:p.(Met869Thr)	NC_000002.11:g.21245913A>G	(Likely) benign	1 lab	821fbb7046
19:10084422 COL5A3 C>T	19	10084422	10084422	C	T	COL5A3	c.3612+10G>A	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10084422C>T	(Likely) benign	1 lab	82201eaa28
12:122260805 SETD1B C>T	12	122260805	122260805	C	T	SETD1B	c.4320C>T	NM_001353345.2	NP_001340274.1:p.(Ser1440=)	NC_000012.11:g.122260805C>T	(Likely) benign	1 lab	822194fb22
2:96583701 MISSING T>Alt too long to show for this DUP	2	96583701	96749694	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.96583702_96749694dup	VUS	1 lab	822922aca1
11:6661892 DCHS1 C>T	11	6661892	6661892	C	T	DCHS1	c.953G>A	NM_003737.4	NP_003728.1:p.(Arg318Gln)	NC_000011.9:g.6661892C>T	VUS	1 lab	8229cb3979
16:1004603 LMF1 G>A	16	1004603	1004603	G	A	LMF1	c.257C>T	NM_022773.4	NP_073610.2:p.(Pro86Leu)	NC_000016.9:g.1004603G>A	(Likely) pathogenic	1 lab	82313aff40
17:41061381 G6PC1 C>T	17	41061381	41061381	C	T	G6PC1	c.508C>T	NM_000151.4	NP_000142.2:p.(Arg170Ter)	NC_000017.10:g.41061381C>T	(Likely) pathogenic	1 lab	8232d527ca
2:44040386 ABCG5 T>C	2	44040386	44040386	T	C	ABCG5	c.1825A>G	NM_022436.3	NP_071881.1:p.(Ile609Val)	NC_000002.11:g.44040386T>C	VUS	1 lab	82345fe4d1
22:50904507 SBF1 C>T	22	50904507	50904507	C	T	SBF1	c.898-4G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50904507C>T	(Likely) benign	1 lab	823461e023
12:125348263 SCARB1 C>T	12	125348263	125348263	C	T	SCARB1	c.4G>A	NM_005505.5	NP_005496.4:p.(Gly2Ser)	NC_000012.11:g.125348263C>T	(Likely) benign	1 lab	823b862363
2:179614365 TTN T>C	2	179614365	179614365	T	C	TTN	c.12762A>G	NM_133379.5	NP_596870.2:p.(Arg4254=)	NC_000002.11:g.179614365T>C	(Likely) benign	1 lab	824064f250
2:233712227 GIGYF2 A>AG	2	233712227	233712228	A	AG	GIGYF2	c.3693_3694insG	NM_001103147.2	NP_001096617.1:p.(Gln1232AlafsTer46)	NC_000002.11:g.233712227_233712228insG	(Likely) benign	1 lab	8242266e9a
11:47431966 SLC39A13 C>T	11	47431966	47431966	C	T	SLC39A13	c.301+20C>T	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47431966C>T	(Likely) benign	1 lab	8247f172eb
11:68702877 IGHMBP2 A>C	11	68702877	68702877	A	C	IGHMBP2	c.1743A>C	NM_002180.3	NP_002171.2:p.(Arg581Ser)	NC_000011.9:g.68702877A>C	(Likely) pathogenic	1 lab	82487757f2
4:100534123 MTTP G>A	4	100534123	100534123	G	A	MTTP	c.2043G>A	NM_000253.4	NP_000244.2:p.(Glu681=)	NC_000004.11:g.100534123G>A	(Likely) benign	1 lab	824d9ac2c1
1:235963630 LYST A>C	1	235963630	235963630	A	C	LYST	c.3996T>G	NM_001301365.1	NP_001288294.1:p.(Ser1332=)	NC_000001.10:g.235963630A>C	(Likely) benign	1 lab	825133c751
12:102067412 MYBPC1 T>C	12	102067412	102067412	T	C	MYBPC1	c.2809+12T>C	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102067412T>C	(Likely) benign	1 lab	82515076c4
2:1500437 TPO C>T	2	1500437	1500437	C	T	TPO	c.2286C>T	NM_000547.6	NP_000538.3:p.(Arg762=)	NC_000002.11:g.1500437C>T	(Likely) benign	1 lab	8253666629
9:107579678 ABCA1 C>T	9	107579678	107579678	C	T	ABCA1	c.3470G>A	NM_005502.4	NP_005493.2:p.(Ser1157Asn)	NC_000009.11:g.107579678C>T	(Likely) benign	1 lab	8255c2ec04
12:85481428 MISSING A>Alt too long to show for this DUP	12	85481428	85702717	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.85481429_85702717dup	VUS	1 lab	82573ab733
11:67226004 CABP4 C>T	11	67226004	67226004	C	T	CABP4	c.484+15C>T	NM_001300895.3	NP_001287824.1:p.?	NC_000011.9:g.67226004C>T	(Likely) benign	1 lab	82585bb827
12:8975319 A2ML1 T>C	12	8975319	8975319	T	C	A2ML1	c.62+10T>C	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8975319T>C	(Likely) benign	1 lab	825a373f21
12:2778179 CACNA1C G>A	12	2778179	2778179	G	A	CACNA1C	c.4704G>A	NM_001167623.2	NP_001161095.1:p.(Thr1568=)	NC_000012.11:g.2778179G>A	(Likely) benign	1 lab	825b28a2f1
2:219525978 BCS1L C>T	2	219525978	219525978	C	T	BCS1L	c.268C>T	NM_004328.5	NP_004319.1:p.(Arg90Cys)	NC_000002.11:g.219525978C>T	(Likely) pathogenic	1 lab	825d208b9f
5:179260238 SQSTM1 C>T	5	179260238	179260238	C	T	SQSTM1	c.961C>T	NM_003900.5	NP_003891.1:p.(Arg321Cys)	NC_000005.9:g.179260238C>T	(Likely) benign	1 lab	827eb5570c
X:118605017 SLC25A5 C>T	X	118605017	118605017	C	T	SLC25A5	c.893C>T	NM_001152.5	NP_001143.2:p.(Thr298Ile)	NC_000023.10:g.118605017C>T	(Likely) benign	1 lab	825fd5beeb
2:189866033 COL3A1 A>T	2	189866033	189866033	A	T	COL3A1	c.2284-90A>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866033A>T	(Likely) benign	1 lab	826014f2da
19:11322771 DOCK6 C>T	19	11322771	11322771	C	T	DOCK6	c.4548G>A	NM_020812.4	NP_065863.2:p.(Thr1516=)	NC_000019.9:g.11322771C>T	(Likely) benign	1 lab	8263a8469d
9:116044905 PRPF4 CT>C	9	116044905	116044920	CT	C	PRPF4	c.396-6del	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116044920del	(Likely) benign	1 lab	8263d73eb0
13:20639195 MISSING G>Alt too long to show for this DUP	13	20639195	20739876	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.20639197_20739876dup	VUS	1 lab	8266df557d
1:237804283 RYR2 G>T	1	237804283	237804283	G	T	RYR2	c.7202G>T	NM_001035.3	NP_001026.2:p.(Arg2401Leu)	NC_000001.10:g.237804283G>T	(Likely) pathogenic	1 lab	826923648a
2:179542833 TTN C>G	2	179542833	179542833	C	G	TTN	c.33994+19G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179542833C>G	(Likely) benign	1 lab	826f071c3d
1:25880194 LDLRAP1 A>G	1	25880194	25880194	A	G	LDLRAP1	c.89-219A>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880194A>G	(Likely) benign	1 lab	82709cf590
11:47362701 MYBPC3 G>A	11	47362701	47362701	G	A	MYBPC3	c.1885C>T	NM_000256.3	NP_000247.2:p.(Leu629Phe)	NC_000011.9:g.47362701G>A	VUS	1 lab	827a023e95
11:75145576 MISSING C>Alt too long to show for this DUP	11	75145576	75173878	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.75145578_75173878dup	VUS	1 lab	827fc82598
6:32013891 TNXB C>A	6	32013891	32013891	C	A	TNXB	c.10600+61G>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32013891C>A	(Likely) benign	1 lab	8281c298a9
3:150421527 ERICH6 C>CTCCTCCTCCTCCTCCACCTCT	3	150421527	150421605	C	CTCCTCCTCCTCCTCCACCTCT	ERICH6	c.138_158dup	NM_152394.5	NP_689607.2:p.(Glu49_Val55dup)	NC_000003.11:g.150421585_150421605dup	(Likely) benign	1 lab	8281ff9982
17:48433973 XYLT2 C>T	17	48433973	48433973	C	T	XYLT2	c.1584C>T	NM_022167.4	NP_071450.2:p.(Pro528=)	NC_000017.10:g.48433973C>T	(Likely) benign	1 lab	8284195733
2:179411535 TTN G>T	2	179411535	179411535	G	T	TTN	c.94620C>A	NM_001267550.2	NP_001254479.2:p.(Gly31540=)	NC_000002.11:g.179411535G>T	(Likely) benign	1 lab	82855e8d40
16:67976316 LCAT A>G	16	67976316	67976316	A	G	LCAT	c.698T>C	NM_000229.2	NP_000220.1:p.(Leu233Pro)	NC_000016.9:g.67976316A>G	(Likely) pathogenic	1 lab	828766869a
10:88466389 LDB3 C>T	10	88466389	88466389	C	T	LDB3	c.998C>T	NM_007078.3	NP_009009.1:p.(Ser333Leu)	NC_000010.10:g.88466389C>T	VUS	1 lab	828b59e830
11:47359076 MYBPC3 A>C	11	47359076	47359076	A	C	MYBPC3	c.2468T>G	NM_000256.3	NP_000247.2:p.(Phe823Cys)	NC_000011.9:g.47359076A>C	VUS	1 lab	828b7608d5
15:85366533 ALPK3 A>G	15	85366533	85366533	A	G	ALPK3	c.144-28A>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85366533A>G	(Likely) benign	1 lab	828edb18ef
22:33245494 SYN3 G>A	22	33245494	33245494	G	A	SYN3	c.708+15408C>T	NM_001135774.2	NP_001129246.1:p.?	NC_000022.10:g.33245494G>A	(Likely) benign	1 lab	829016f2c6
12:8800794 MFAP5 G>A	12	8800794	8800794	G	A	MFAP5	c.415C>T	NM_003480.4	NP_003471.1:p.(Leu139Phe)	NC_000012.11:g.8800794G>A	VUS	1 lab	8290864dcf
16:88505155 ZNF469 C>T	16	88505155	88505155	C	T	ZNF469	c.11277C>T	NM_001367624.2	NP_001354553.1:p.(Ser3759=)	NC_000016.9:g.88505155C>T	(Likely) benign	1 lab	8296c087e7
12:977744 WNK1 C>T	12	977744	977744	C	T	WNK1	c.2852C>T	NM_001184985.2	NP_001171914.1:p.(Ala951Val)	NC_000012.11:g.977744C>T	VUS	1 lab	8298154fab
2:24930055 NCOA1 A>T	2	24930055	24930055	A	T	NCOA1	c.1716A>T	NM_001362950.1	NP_001349879.1:p.(Arg572Ser)	NC_000002.11:g.24930055A>T	(Likely) benign	1 lab	8298eb0ceb
X:77267176 ATP7A G>C	X	77267176	77267176	G	C	ATP7A	c.2172+5G>C	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77267176G>C	(Likely) pathogenic	1 lab	82995b8955
4:90749301 SNCA C>A	4	90749301	90749301	C	A	SNCA	c.156G>T	NM_000345.4	NP_000336.1:p.(Val52=)	NC_000004.11:g.90749301C>A	(Likely) benign	1 lab	829e546c23
14:106530532 MISSING Ref too long to show for this DEL>T	14	106530532	107285438	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.106530534_107285438del	(Likely) pathogenic	1 lab	829ec19cd4
2:24991119 NCOA1 C>T	2	24991119	24991119	C	T	NCOA1	c.4185C>T	NM_003743.5	NP_003734.3:p.(Asp1395=)	NC_000002.11:g.24991119C>T	(Likely) benign	1 lab	829f68b5ca
15:48729250 FBN1 T>C	15	48729250	48729250	T	C	FBN1	c.6404A>G	NM_000138.5	NP_000129.3:p.(Asp2135Gly)	NC_000015.9:g.48729250T>C	VUS	1 lab	82dacc5a63
22:46787555 CELSR1 G>A	22	46787555	46787555	G	A	CELSR1	c.6123C>T	NM_001378328.1	NP_001365257.1:p.(Ala2041=)	NC_000022.10:g.46787555G>A	(Likely) benign	1 lab	82a4779b82
18:47107821 LIPG C>A	18	47107821	47107821	C	A	LIPG	c.830C>A	NM_006033.4	NP_006024.1:p.(Ala277Asp)	NC_000018.9:g.47107821C>A	VUS	1 lab	82a59d834c
6:157510805 ARID1B A>AC	6	157510805	157510811	A	AC	ARID1B	c.3835dup	NM_001374820.1	NP_001361749.1:p.(Gln1279ProfsTer14)	NC_000006.11:g.157510811dup	(Likely) pathogenic	1 lab	82a78284ef
10:12133565 DHTKD1 G>A	10	12133565	12133565	G	A	DHTKD1	c.1041G>A	NM_018706.7	NP_061176.4:p.(Thr347=)	NC_000010.10:g.12133565G>A	(Likely) benign	1 lab	82a7c3e0d8
5:95751822 PCSK1 G>A	5	95751822	95751822	G	A	PCSK1	c.624C>T	NM_000439.5	NP_000430.3:p.(His208=)	NC_000005.9:g.95751822G>A	(Likely) benign	1 lab	82a81619b7
9:137534362 COL5A1 T>G	9	137534362	137534362	T	G	COL5A1	c.109+220T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137534362T>G	(Likely) benign	1 lab	82a84bc4ae
12:125279819 SCARB1 G>A	12	125279819	125279819	G	A	SCARB1	c.1129-5C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125279819G>A	(Likely) benign	1 lab	82ab5ddbe7
10:16877130 CUBN G>A	10	16877130	16877130	G	A	CUBN	c.10245C>T	NM_001081.4	NP_001072.2:p.(Tyr3415=)	NC_000010.10:g.16877130G>A	(Likely) benign	1 lab	82ad7d72ae
10:71119786 HK1 C>T	10	71119786	71119786	C	T	HK1	c.324C>T	NM_033500.2	NP_277035.2:p.(His108=)	NC_000010.10:g.71119786C>T	(Likely) benign	1 lab	839045314c
12:32955348 PKP2 T>C	12	32955348	32955348	T	C	PKP2	c.2288A>G	NM_004572.4	NP_004563.2:p.(Gln763Arg)	NC_000012.11:g.32955348T>C	VUS	1 lab	82b14c6fcf
8:134145743 TG G>A	8	134145743	134145743	G	A	TG	c.8027G>A	NM_003235.5	NP_003226.4:p.(Arg2676Gln)	NC_000008.10:g.134145743G>A	VUS	1 lab	82b3c3b7d3
12:122265676 SETD1B C>T	12	122265676	122265676	C	T	SETD1B	c.5505C>T	NM_001353345.2	NP_001340274.1:p.(His1835=)	NC_000012.11:g.122265676C>T	(Likely) benign	1 lab	82bc5ae326
6:70409081 LMBRD1 A>G	6	70409081	70409081	A	G	LMBRD1	c.1192T>C	NM_018368.4	NP_060838.3:p.(Tyr398His)	NC_000006.11:g.70409081A>G	(Likely) pathogenic	1 lab	82bf01e736
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	82c24c1a50
19:16606833 CALR3 G>T	19	16606833	16606833	G	T	CALR3	c.91+17C>A	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606833G>T	(Likely) benign	1 lab	82c3f6b730
7:128490093 FLNC G>A	7	128490093	128490093	G	A	FLNC	c.5263G>A	NM_001458.5	NP_001449.3:p.(Ala1755Thr)	NC_000007.13:g.128490093G>A	VUS	1 lab	82c5f96f99
9:34250710 UBAP1 CTT>C	9	34250710	34250714	CTT	C	UBAP1	c.1516_1517del	NM_001171201.1	NP_001164672.1:p.(Leu506SerfsTer26)	NC_000009.11:g.34250713_34250714del	VUS	1 lab	82c8de51ea
21:27284168 APP G>A	21	27284168	27284168	G	A	APP	c.1794C>T	NM_000484.4	NP_000475.1:p.(Thr598=)	NC_000021.8:g.27284168G>A	(Likely) benign	1 lab	82ccf006c1
8:110131603 TRHR C>T	8	110131603	110131603	C	T	TRHR	c.1116C>T	NM_003301.7	NP_003292.1:p.(Val372=)	NC_000008.10:g.110131603C>T	(Likely) benign	1 lab	82ce94ed1d
6:32011883 TNXB G>A	6	32011883	32011883	G	A	TNXB	c.11281C>T	NM_019105.8	NP_061978.6:p.(Gln3761Ter)	NC_000006.11:g.32011883G>A	VUS	1 lab	82cf831ccd
16:148162 NPRL3 G>A	16	148162	148162	G	A	NPRL3	c.830C>T	NM_001243249.2	NP_001230178.1:p.(Ala277Val)	NC_000016.9:g.148162G>A	VUS	1 lab	82d9157c5a
16:23641422 PALB2 TG>T	16	23641422	23641425	TG	T	PALB2	c.2052del	NM_024675.4	NP_078951.2:p.(Arg686GlyfsTer23)	NC_000016.9:g.23641425del	(Likely) pathogenic	1 lab	82d987d9cf
5:180041097 FLT4 C>A	5	180041097	180041097	C	A	FLT4	c.3302G>T	NM_182925.5	NP_891555.2:p.(Gly1101Val)	NC_000005.9:g.180041097C>A	VUS	1 lab	82dbd88f8b
1:45797481 MUTYH C>T	1	45797481	45797481	C	T	MUTYH	c.1038G>A	NM_001128425.2	NP_001121897.1:p.(Ser346=)	NC_000001.10:g.45797481C>T	(Likely) pathogenic	1 lab	82dcff8e9a
2:21225926 APOB A>G	2	21225926	21225926	A	G	APOB	c.12368T>C	NM_000384.3	NP_000375.3:p.(Ile4123Thr)	NC_000002.11:g.21225926A>G	(Likely) benign	1 lab	82df65674c
2:179422789 TTN C>T	2	179422789	179422789	C	T	TTN	c.87292G>A	NM_001267550.2	NP_001254479.2:p.(Glu29098Lys)	NC_000002.11:g.179422789C>T	VUS	1 lab	82e1767dc2
13:110817328 COL4A1 C>A	13	110817328	110817328	C	A	COL4A1	c.4031G>T	NM_001845.6	NP_001836.3:p.(Gly1344Val)	NC_000013.10:g.110817328C>A	(Likely) pathogenic	1 lab	82e2e89f38
2:48028085 MSH6 G>A	2	48028085	48028085	G	A	MSH6	c.2963G>A	NM_000179.3	NP_000170.1:p.(Arg988His)	NC_000002.11:g.48028085G>A	(Likely) benign	1 lab	82eed901ad
1:94520884 ABCA4 G>A	1	94520884	94520884	G	A	ABCA4	c.2383-13C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94520884G>A	(Likely) benign	1 lab	82f2bb235e
15:22770421 MISSING Ref too long to show for this DEL>A	15	22770421	23288350	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770422_23288350del	(Likely) pathogenic	1 lab	82f3172c24
1:94512550 ABCA4 C>T	1	94512550	94512550	C	T	ABCA4	c.2843G>A	NM_000350.3	NP_000341.2:p.(Arg948His)	NC_000001.10:g.94512550C>T	VUS	1 lab	82f396edd6
6:41166021 TREML2 C>T	6	41166021	41166021	C	T	TREML2	c.202G>A	NM_024807.4	NP_079083.2:p.(Ala68Thr)	NC_000006.11:g.41166021C>T	(Likely) benign	1 lab	82f4292071
1:25890155 LDLRAP1 T>C	1	25890155	25890155	T	C	LDLRAP1	c.620T>C	NM_015627.3	NP_056442.2:p.(Val207Ala)	NC_000001.10:g.25890155T>C	VUS	1 lab	82f448d3b0
X:142804394 MISSING A>Alt too long to show for this DUP	X	142804394	143174105	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.142804395_143174105dup	VUS	1 lab	83aa0cfdad
20:47865677 ZNFX1 C>T	20	47865677	47865677	C	T	ZNFX1	c.3884G>A	NM_021035.3	NP_066363.1:p.(Arg1295His)	NC_000020.10:g.47865677C>T	VUS	1 lab	82f774962a
13:100953802 PCCA A>G	13	100953802	100953802	A	G	PCCA	c.1154A>G	NM_000282.4	NP_000273.2:p.(Lys385Arg)	NC_000013.10:g.100953802A>G	(Likely) benign	1 lab	82f849d72e
12:48398089 COL2A1 C>T	12	48398089	48398089	C	T	COL2A1	c.16G>A	NM_001844.5	NP_001835.3:p.(Ala6Thr)	NC_000012.11:g.48398089C>T	VUS	1 lab	82f8d82006
1:180243390 LHX4 A>C	1	180243390	180243390	A	C	LHX4	c.849A>C	NM_033343.4	NP_203129.1:p.(Gly283=)	NC_000001.10:g.180243390A>C	(Likely) benign	1 lab	82febd7e27
6:106692154 MISSING G>Alt too long to show for this DUP	6	106692154	107033320	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.106692155_107033320dup	VUS	1 lab	82ffcdc533
3:38645938 SCN5A C>T	3	38645938	38645938	C	T	SCN5A	c.1518+282G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38645938C>T	(Likely) benign	1 lab	8300d91dbc
19:10939929 DNM2 G>A	19	10939929	10939929	G	A	DNM2	c.2276G>A	NM_001005360.3	NP_001005360.1:p.(Ser759Asn)	NC_000019.9:g.10939929G>A	VUS	1 lab	8301008116
5:150907684 FAT2 G>A	5	150907684	150907684	G	A	FAT2	c.10037C>T	NM_001447.3	NP_001438.1:p.(Thr3346Ile)	NC_000005.9:g.150907684G>A	VUS	1 lab	8304fcd751
15:85399645 ALPK3 C>T	15	85399645	85399645	C	T	ALPK3	c.1676C>T	NM_020778.5	NP_065829.4:p.(Thr559Met)	NC_000015.9:g.85399645C>T	(Likely) benign	1 lab	8306a5c27c
16:15802686 MYH11 T>TG	16	15802686	15802694	T	TG	MYH11	c.5787-4707dup	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15802694dup	(Likely) benign	1 lab	8307840474
16:70866783 HYDIN C>A	16	70866783	70866783	C	A	HYDIN	c.13867G>T	NM_001270974.2	NP_001257903.1:p.(Gly4623Ter)	NC_000016.9:g.70866783C>A	VUS	1 lab	83080f0ce1
1:3328414 PRDM16 G>A	1	3328414	3328414	G	A	PRDM16	c.1653G>A	NM_022114.4	NP_071397.3:p.(Leu551=)	NC_000001.10:g.3328414G>A	(Likely) benign	1 lab	830a688e5f
6:42153507 GUCA1B C>T	6	42153507	42153507	C	T	GUCA1B	c.386G>A	NM_002098.6	NP_002089.4:p.(Arg129Gln)	NC_000006.11:g.42153507C>T	(Likely) benign	1 lab	830ce8f9a3
X:48371005 PORCN G>C	X	48371005	48371005	G	C	PORCN	c.371G>C	NM_001282167.2	NP_001269096.1:p.(Arg124Pro)	NC_000023.10:g.48371005G>C	(Likely) pathogenic	1 lab	830d3a8c5d
2:50937443 NRXN1 Ref too long to show for this DEL>C	2	50937443	51021511	Ref too long to show for this DEL	C	NRXN1	c.832+127496_833-86691del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50937444_51021511del	VUS	1 lab	830e6c2670
1:236906243 ACTN2 C>T	1	236906243	236906243	C	T	ACTN2	c.531C>T	NM_001278344.2	NP_001265273.1:p.(Tyr177=)	NC_000001.10:g.236906243C>T	(Likely) benign	1 lab	830e7abaef
15:45440600 DUOX1 C>T	15	45440600	45440600	C	T	DUOX1	c.2773C>T	NM_017434.5	NP_059130.2:p.(Arg925Trp)	NC_000015.9:g.45440600C>T	VUS	1 lab	8311713803
9:107584309 ABCA1 T>C	9	107584309	107584309	T	C	ABCA1	c.2828+468A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107584309T>C	(Likely) benign	1 lab	8312159244
2:179611744 TTN C>T	2	179611744	179611744	C	T	TTN	c.15383G>A	NM_133379.5	NP_596870.2:p.(Gly5128Asp)	NC_000002.11:g.179611744C>T	(Likely) benign	1 lab	83150b1bdb
12:20893259 SLCO1C1 A>G	12	20893259	20893259	A	G	SLCO1C1	c.1690A>G	NM_017435.5	NP_059131.1:p.(Thr564Ala)	NC_000012.11:g.20893259A>G	(Likely) benign	1 lab	831513e066
6:152485430 SYNE1 G>A	6	152485430	152485430	G	A	SYNE1	c.23658C>T	NM_182961.4	NP_892006.3:p.(Ala7886=)	NC_000006.11:g.152485430G>A	(Likely) benign	1 lab	83157186c9
17:54671727 NOG A>T	17	54671727	54671727	A	T	NOG	c.143A>T	NM_005450.6	NP_005441.1:p.(Glu48Val)	NC_000017.10:g.54671727A>T	(Likely) pathogenic	1 lab	8317be172f
2:179563656 TTN AAAGAAAAAAAAAG>A	2	179563656	179563671	AAAGAAAAAAAAAG	A	TTN	c.30683-28_30683-16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563659_179563671del	(Likely) benign	1 lab	831cb40551
3:132435765 NPHP3 G>C	3	132435765	132435765	G	C	NPHP3	c.671-12C>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132435765G>C	(Likely) benign	1 lab	8333f09ee1
X:31844711 DMD Ref too long to show for this DEL>G	X	31844711	31981506	Ref too long to show for this DEL	G	DMD	c.6614+4950_7201-6512del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31844712_31981506del	(Likely) pathogenic	1 lab	83208b5894
2:21266864 APOB C>T	2	21266864	21266864	C	T	APOB	c.-47G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266864C>T	(Likely) benign	1 lab	832094bd35
10:69408547 CTNNA3 A>C	10	69408547	69408547	A	C	CTNNA3	c.-19T>G	NM_001291133.2	NP_001278062.1:p.?	NC_000010.10:g.69408547A>C	(Likely) benign	1 lab	83226d1e73
11:47366374 MYBPC3 T>C	11	47366374	47366374	T	C	MYBPC3	c.1091-1199A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366374T>C	(Likely) benign	1 lab	8325a0414e
2:44101120 ABCG8 C>T	2	44101120	44101120	C	T	ABCG8	c.1406C>T	NM_022437.3	NP_071882.1:p.(Ser469Phe)	NC_000002.11:g.44101120C>T	VUS	1 lab	8327f3f6a8
5:178772229 ADAMTS2 G>GGCGGCGGCGGCGGCGGCAGGA	5	178772229	178772261	G	GGCGGCGGCGGCGGCGGCAGGA	ADAMTS2	c.80_100dup	NM_014244.5	NP_055059.2:p.(Leu27_Pro33dup)	NC_000005.9:g.178772241_178772261dup	(Likely) benign	1 lab	832aafefbd
16:77268506 MISSING Ref too long to show for this DEL>A	16	77268506	77358979	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.77268507_77358979del	VUS	1 lab	832ab56c42
16:23226701 SCNN1G G>A	16	23226701	23226701	G	A	SCNN1G	c.1861G>A	NM_001039.4	NP_001030.2:p.(Gly621Ser)	NC_000016.9:g.23226701G>A	VUS	1 lab	83310f3df9
3:32188104 GPD1L C>A	3	32188104	32188104	C	A	GPD1L	c.506-10C>A	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32188104C>A	(Likely) benign	1 lab	83335396c8
8:100844569 VPS13B ATTTTTTTT>A	8	100844569	100844594	ATTTTTTTT	A	VPS13B	c.9406-10_9406-3del	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844587_100844594del	(Likely) benign	1 lab	8333ea40b0
22:39627770 PDGFB C>T	22	39627770	39627770	C	T	PDGFB	c.313G>A	NM_002608.4	NP_002599.1:p.(Glu105Lys)	NC_000022.10:g.39627770C>T	(Likely) benign	1 lab	8337618e16
1:3328737 PRDM16 C>T	1	3328737	3328737	C	T	PRDM16	c.1976C>T	NM_022114.4	NP_071397.3:p.(Pro659Leu)	NC_000001.10:g.3328737C>T	VUS	1 lab	833b85d511
1:218607539 TGFB2 A>G	1	218607539	218607539	A	G	TGFB2	c.710A>G	NM_001135599.4	NP_001129071.1:p.(Glu237Gly)	NC_000001.10:g.218607539A>G	VUS	1 lab	833e18db6d
10:66509332 MISSING Ref too long to show for this DEL>G	10	66509332	68972663	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.66509333_68972663del	VUS	1 lab	8340d98e1e
22:50893257 SBF1 G>A	22	50893257	50893257	G	A	SBF1	c.4798C>T	NM_002972.4	NP_002963.2:p.(Pro1600Ser)	NC_000022.10:g.50893257G>A	VUS	1 lab	834225905a
12:59313228 LRIG3 C>T	12	59313228	59313228	C	T	LRIG3	c.36G>A	NM_001136051.3	NP_001129523.1:p.(Leu12=)	NC_000012.11:g.59313228C>T	(Likely) benign	1 lab	834413e7c7
11:116661750 APOA5 G>A	11	116661750	116661750	G	A	APOA5	c.195C>T	NM_052968.5	NP_443200.2:p.(Asn65=)	NC_000011.9:g.116661750G>A	(Likely) benign	1 lab	8346898c3b
X:47426757 ARAF C>T	X	47426757	47426757	C	T	ARAF	c.1011C>T	NM_001256196.2	NP_001243125.1:p.(Ala337=)	NC_000023.10:g.47426757C>T	(Likely) benign	1 lab	83476a780a
14:23893334 MYH7 C>T	14	23893334	23893334	C	T	MYH7	c.2704G>A	NM_000257.4	NP_000248.2:p.(Glu902Lys)	NC_000014.8:g.23893334C>T	(Likely) pathogenic	1 lab	834ef64ac8
1:150297334 PRPF3 CTTTT>C	1	150297334	150297350	CTTTT	C	PRPF3	c.-48-6_-48-3del	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297347_150297350del	(Likely) benign	1 lab	835a861d81
X:32305879 DMD AAT>A	X	32305879	32305894	AAT	A	DMD	c.6118-63_6118-62del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32305893_32305894del	(Likely) benign	1 lab	835f3557d4
15:93499822 CHD2 C>G	15	93499822	93499822	C	G	CHD2	c.1943C>G	NM_001271.4	NP_001262.3:p.(Pro648Arg)	NC_000015.9:g.93499822C>G	(Likely) pathogenic	1 lab	835f359c4c
4:168123827 MISSING A>Alt too long to show for this DUP	4	168123827	168169515	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.168123829_168169515dup	VUS	1 lab	8361a61bac
11:47371595 MYBPC3 T>A	11	47371595	47371595	T	A	MYBPC3	c.475A>T	NM_000256.3	NP_000247.2:p.(Met159Leu)	NC_000011.9:g.47371595T>A	VUS	1 lab	8367823d95
16:920758 LMF1 G>A	16	920758	920758	G	A	LMF1	c.804C>T	NM_001352018.2	NP_001338947.1:p.(His268=)	NC_000016.9:g.920758G>A	(Likely) benign	1 lab	836bacf0f2
19:16593292 CALR3 T>G	19	16593292	16593292	T	G	CALR3	c.887A>C	NM_145046.5	NP_659483.2:p.(Asn296Thr)	NC_000019.9:g.16593292T>G	VUS	1 lab	836d023212
2:238287629 COL6A3 C>T	2	238287629	238287629	C	T	COL6A3	c.2147G>A	NM_004369.4	NP_004360.2:p.(Gly716Asp)	NC_000002.11:g.238287629C>T	VUS	1 lab	836f22dd08
1:248802249 OR2T35 T>TAGA	1	248802249	248802255	T	TAGA	OR2T35	c.308_310dup	NM_001001827.2	NP_001001827.1:p.(Phe103dup)	NC_000001.10:g.248802253_248802255dup	(Likely) benign	1 lab	83708b3b27
12:5155103 KCNA5 G>A	12	5155103	5155103	G	A	KCNA5	c.1790G>A	NM_002234.4	NP_002225.2:p.(Arg597Gln)	NC_000012.11:g.5155103G>A	VUS	1 lab	83770e6312
9:133753496 ABL1 G>A	9	133753496	133753496	G	A	ABL1	c.1328-306G>A	NM_007313.2	NP_009297.2:p.?	NC_000009.11:g.133753496G>A	(Likely) benign	1 lab	837a538bbd
10:92675378 ANKRD1 A>G	10	92675378	92675378	A	G	ANKRD1	c.771T>C	NM_014391.3	NP_055206.2:p.(His257=)	NC_000010.10:g.92675378A>G	(Likely) benign	1 lab	837a86d6d4
X:118483034 MISSING Ref too long to show for this DEL>A	X	118483034	118601218	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.118483035_118601218del	VUS	1 lab	837d14b830
X:147367740 MISSING Ref too long to show for this DEL>T	X	147367740	148790316	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.147367741_148790316del	(Likely) pathogenic	1 lab	837d8d1c4e
15:67394585 SMAD3 A>AGTGTGT	15	67394585	67394606	A	AGTGTGT	SMAD3	c.206+35903_206+35908dup	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67394601_67394606dup	(Likely) benign	1 lab	8380c99388
17:31257849 MISSING Ref too long to show for this DEL>G	17	31257849	31616917	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.31257853_31616917del	(Likely) pathogenic	1 lab	8381cf5c2f
4:144801662 GYPE C>G	4	144801662	144801662	C	G	GYPE	c.38G>C	NM_198682.3	NP_941391.2:p.(Gly13Ala)	NC_000004.11:g.144801662C>G	(Likely) benign	1 lab	8383c46ce1
2:44102440 ABCG8 C>T	2	44102440	44102440	C	T	ABCG8	c.1644C>T	NM_022437.3	NP_071882.1:p.(Ala548=)	NC_000002.11:g.44102440C>T	(Likely) benign	1 lab	83843f9512
16:1024588 LMF1 C>T	16	1024588	1024588	C	T	LMF1	c.-362+6557G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1024588C>T	(Likely) benign	1 lab	8384e75946
7:81689726 CACNA2D1 C>T	7	81689726	81689726	C	T	CACNA2D1	c.879+18G>A	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81689726C>T	(Likely) benign	1 lab	83ab7dc34a
9:37785006 EXOSC3 G>C	9	37785006	37785006	G	C	EXOSC3	c.36C>G	NM_016042.4	NP_057126.2:p.(Leu12=)	NC_000009.11:g.37785006G>C	(Likely) benign	1 lab	83871d2176
19:7607429 PNPLA6 C>T	19	7607429	7607429	C	T	PNPLA6	c.1280-18C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7607429C>T	(Likely) benign	1 lab	838b2d3146
2:212495336 ERBB4 G>GA	2	212495336	212495347	G	GA	ERBB4	c.1947-18dup	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212495347dup	(Likely) benign	1 lab	838d02b233
19:11238975 LDLR C>T	19	11238975	11238975	C	T	LDLR	c.2389+214C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238975C>T	(Likely) benign	1 lab	838ed29048
9:137710699 COL5A1 A>G	9	137710699	137710699	A	G	COL5A1	c.4344A>G	NM_000093.5	NP_000084.3:p.(Glu1448=)	NC_000009.11:g.137710699A>G	(Likely) benign	1 lab	838ef9141d
8:92375732 SLC26A7 A>T	8	92375732	92375732	A	T	SLC26A7	c.1454A>T	NM_001282356.2	NP_001269285.1:p.(Glu485Val)	NC_000008.10:g.92375732A>T	(Likely) benign	1 lab	838f9670c6
22:37162200 IFT27 C>T	22	37162200	37162200	C	T	IFT27	c.216G>A	NM_001177701.3	NP_001171172.1:p.(Ser72=)	NC_000022.10:g.37162200C>T	(Likely) benign	1 lab	8392e3274f
12:102505928 NUP37 C>T	12	102505928	102505928	C	T	NUP37	c.239G>A	NM_024057.4	NP_076962.2:p.(Trp80Ter)	NC_000012.11:g.102505928C>T	(Likely) pathogenic	1 lab	839433f57c
4:65340976 MISSING C>Alt too long to show for this DUP	4	65340976	66203352	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.65340977_66203352dup	VUS	1 lab	839b0d1f23
3:49726028 MST1 T>C	3	49726028	49726028	T	C	MST1	c.94+3A>G	NM_020998.3	NP_066278.3:p.?	NC_000003.11:g.49726028T>C	(Likely) benign	1 lab	839de97f8f
11:47359409 MYBPC3 C>T	11	47359409	47359409	C	T	MYBPC3	c.2309-64G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359409C>T	(Likely) benign	1 lab	839f7a6ebb
2:241696716 KIF1A C>T	2	241696716	241696716	C	T	KIF1A	c.2858+20G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241696716C>T	(Likely) benign	1 lab	83a2ce9f9b
6:55897761 MISSING Ref too long to show for this DEL>G	6	55897761	56033217	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.55897762_56033217del	VUS	1 lab	83a400fc4b
3:38753707 SCN10A T>C	3	38753707	38753707	T	C	SCN10A	c.4034A>G	NM_006514.4	NP_006505.4:p.(Asn1345Ser)	NC_000003.11:g.38753707T>C	(Likely) benign	1 lab	83a966a0da
16:1020769 LMF1 G>C	16	1020769	1020769	G	C	LMF1	c.-362+10376C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020769G>C	(Likely) benign	1 lab	83a999b1fa
8:144297052 GPIHBP1 CA>C	8	144297052	144297053	CA	C	GPIHBP1	c.295+52del	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297053del	(Likely) benign	1 lab	83aa07baf2
2:24952475 NCOA1 C>G	2	24952475	24952475	C	G	NCOA1	c.2992C>G	NM_001362950.1	NP_001349879.1:p.(Pro998Ala)	NC_000002.11:g.24952475C>G	(Likely) benign	1 lab	83adb7356f
12:21375306 SLCO1B1 G>GAAAAAA	12	21375306	21375332	G	GAAAAAA	SLCO1B1	c.1747+29_1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375327_21375332dup	(Likely) benign	1 lab	83ae28a140
2:21229487 APOB G>A	2	21229487	21229487	G	A	APOB	c.10253C>T	NM_000384.3	NP_000375.3:p.(Thr3418Met)	NC_000002.11:g.21229487G>A	VUS	1 lab	83ae6c565c
14:23855227 MYH6 A>G	14	23855227	23855227	A	G	MYH6	c.5073T>C	NM_002471.4	NP_002462.2:p.(Arg1691=)	NC_000014.8:g.23855227A>G	(Likely) benign	1 lab	83b0566d15
2:215610598 BARD1 T>C	2	215610598	215610598	T	C	BARD1	c.1678-20A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215610598T>C	(Likely) benign	1 lab	83b13a535a
16:68842307 CDH1 C>A	16	68842307	68842307	C	A	CDH1	c.388-20C>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842307C>A	(Likely) benign	1 lab	83b2f208fc
4:16026822 PROM1 GT>G	4	16026822	16026825	GT	G	PROM1	c.595del	NM_001145847.2	NP_001139319.1:p.(Thr199LeufsTer23)	NC_000004.11:g.16026825del	(Likely) pathogenic	1 lab	83b8acfbc1
1:55528807 PCSK9 G>C	1	55528807	55528807	G	C	PCSK9	c.1864-235G>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55528807G>C	(Likely) benign	1 lab	83ba1fc47c
2:238243481 COL6A3 T>C	2	238243481	238243481	T	C	COL6A3	c.9017A>G	NM_004369.4	NP_004360.2:p.(Lys3006Arg)	NC_000002.11:g.238243481T>C	(Likely) benign	1 lab	83ba55a4d3
13:32907351 BRCA2 T>G	13	32907351	32907351	T	G	BRCA2	c.1736T>G	NM_000059.4	NP_000050.3:p.(Leu579Ter)	NC_000013.10:g.32907351T>G	(Likely) pathogenic	1 lab	83bc79ed8e
1:6029245 NPHP4 T>C	1	6029245	6029245	T	C	NPHP4	c.354A>G	NM_015102.5	NP_055917.1:p.(Lys118=)	NC_000001.10:g.6029245T>C	(Likely) benign	1 lab	83bcd0edc6
1:25870255 LDLRAP1 G>T	1	25870255	25870255	G	T	LDLRAP1	c.66G>T	NM_015627.3	NP_056442.2:p.(Trp22Cys)	NC_000001.10:g.25870255G>T	VUS	1 lab	83c2639d2c
X:153167267 L1CAM A>Alt too long to show for this DUP	X	153167267	153176959	A	Alt too long to show for this DUP	L1CAM				NC_000023.10:g.153167269_153176959dup	VUS	1 lab	83c2f1f8ad
15:73635812 HCN4 G>A	15	73635812	73635812	G	A	HCN4	c.1123C>T	NM_005477.3	NP_005468.1:p.(Arg375Cys)	NC_000015.9:g.73635812G>A	(Likely) pathogenic	1 lab	83cce59274
11:47367937 MYBPC3 T>G	11	47367937	47367937	T	G	MYBPC3	c.927-16A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367937T>G	(Likely) benign	1 lab	83cf3e6651
10:27688172 PTCHD3 G>GA	10	27688172	27688173	G	GA	PTCHD3	c.1358-4_1358-3insT	NM_001034842.4	NP_001030014.2:p.?	NC_000010.10:g.27688172_27688173insA	(Likely) benign	1 lab	83cf44d4f8
11:47366444 MYBPC3 T>C	11	47366444	47366444	T	C	MYBPC3	c.1091-1269A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366444T>C	(Likely) benign	1 lab	83cf6cc847
16:17211690 XYLT1 G>T	16	17211690	17211690	G	T	XYLT1	c.2370C>A	NM_022166.4	NP_071449.1:p.(Val790=)	NC_000016.9:g.17211690G>T	(Likely) benign	1 lab	83d0444c57
6:32489934 HLA-DRB5 C>G	6	32489934	32489934	C	G	HLA-DRB5	c.118G>C	NM_002125.4	NP_002116.2:p.(Asp40His)	NC_000006.11:g.32489934C>G	(Likely) benign	1 lab	83d0653b47
2:24929877 NCOA1 C>T	2	24929877	24929877	C	T	NCOA1	c.1538C>T	NM_003743.5	NP_003734.3:p.(Ser513Leu)	NC_000002.11:g.24929877C>T	(Likely) benign	1 lab	83d2425848
9:137622051 COL5A1 G>A	9	137622051	137622051	G	A	COL5A1	c.925-31G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137622051G>A	(Likely) benign	1 lab	83d44c9e3d
7:94037139 COL1A2 C>T	7	94037139	94037139	C	T	COL1A2	c.595-20C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037139C>T	(Likely) benign	1 lab	83d9fab741
6:75852757 COL12A1 T>C	6	75852757	75852757	T	C	COL12A1	c.4827+211A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75852757T>C	(Likely) benign	1 lab	83dc9653ab
9:107550688 ABCA1 T>C	9	107550688	107550688	T	C	ABCA1	c.6069+19A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550688T>C	(Likely) benign	1 lab	83dcc07c47
4:114278750 ANK2 C>T	4	114278750	114278750	C	T	ANK2	c.8976C>T	NM_001148.6	NP_001139.3:p.(Asp2992=)	NC_000004.11:g.114278750C>T	(Likely) benign	1 lab	83dda4ac12
1:40769603 COL9A2 C>T	1	40769603	40769603	C	T	COL9A2	c.1365G>A	NM_001852.4	NP_001843.1:p.(Glu455=)	NC_000001.10:g.40769603C>T	(Likely) benign	1 lab	83df172037
18:28650713 DSC2 T>G	18	28650713	28650713	T	G	DSC2	c.2229A>C	NM_004949.5	NP_004940.1:p.(Glu743Asp)	NC_000018.9:g.28650713T>G	VUS	1 lab	83e16099e7
6:152174734 ESR1 Ref too long to show for this DEL>A	6	152174734	152182316	Ref too long to show for this DEL	A	ESR1	c.643+10815_643+18394del	NM_000125.4	NP_000116.2:p.?	NC_000006.11:g.152174737_152182316del	VUS	1 lab	83e6e57083
18:25583096 CDH2 G>A	18	25583096	25583096	G	A	CDH2	c.885C>T	NM_001792.5	NP_001783.2:p.(Asp295=)	NC_000018.9:g.25583096G>A	(Likely) benign	1 lab	83e748c246
2:170068713 LRP2 G>A	2	170068713	170068713	G	A	LRP2	c.6045C>T	NM_004525.3	NP_004516.2:p.(Ala2015=)	NC_000002.11:g.170068713G>A	(Likely) benign	1 lab	83ead4f222
6:56482862 DST C>G	6	56482862	56482862	C	G	DST	c.5970G>C	NM_001723.7	NP_001714.1:p.(Leu1990=)	NC_000006.11:g.56482862C>G	(Likely) benign	1 lab	83ec6f80f6
2:179666803 TTN T>A	2	179666803	179666803	T	A	TTN	c.295+62A>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179666803T>A	VUS	1 lab	83ed54434d
5:140057535 HARS1 G>A	5	140057535	140057535	G	A	HARS1	c.588C>T	NM_002109.6	NP_002100.2:p.(Cys196=)	NC_000005.9:g.140057535G>A	(Likely) benign	1 lab	83ee637cee
14:89164002 MISSING A>Alt too long to show for this DUP	14	89164002	89464360	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.89164003_89464360dup	VUS	1 lab	83f0cbff95
2:179582457 TTN G>A	2	179582457	179582457	G	A	TTN	c.21412C>T	NM_133378.4	NP_596869.4:p.(Arg7138Cys)	NC_000002.11:g.179582457G>A	VUS	1 lab	83f293550c
11:1017964 MUC6 G>T	11	1017964	1017964	G	T	MUC6	c.4837C>A	NM_005961.3	NP_005952.2:p.(Pro1613Thr)	NC_000011.9:g.1017964G>T	(Likely) benign	1 lab	83f3b96fe6
8:59404043 CYP7A1 C>T	8	59404043	59404043	C	T	CYP7A1	c.1506G>A	NM_000780.4	NP_000771.2:p.(Lys502=)	NC_000008.10:g.59404043C>T	(Likely) benign	1 lab	83f556e460
4:16215639 TAPT1 T>C	4	16215639	16215639	T	C	TAPT1	c.200-118A>G	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16215639T>C	(Likely) benign	1 lab	83f7dc2be4
16:961047 LMF1 G>C	16	961047	961047	G	C	LMF1	c.148C>G	NM_001352018.2	NP_001338947.1:p.(Leu50Val)	NC_000016.9:g.961047G>C	VUS	1 lab	83fa20e244
8:19809322 LPL G>A	8	19809322	19809322	G	A	LPL	c.292G>A	NM_000237.3	NP_000228.1:p.(Ala98Thr)	NC_000008.10:g.19809322G>A	VUS	1 lab	83fa21baa7
2:179447785 TTN CT>C	2	179447785	179447786	CT	C	TTN	c.58040del	NM_133378.4	NP_596869.4:p.(Gln19347ArgfsTer12)	NC_000002.11:g.179447786del	(Likely) pathogenic	1 lab	83fbe752c6
5:147821690 FBXO38 G>A	5	147821690	147821690	G	A	FBXO38	c.3322G>A	NM_030793.5	NP_110420.3:p.(Val1108Ile)	NC_000005.9:g.147821690G>A	VUS	1 lab	83fbf689b7
9:137726617 COL5A1 G>A	9	137726617	137726617	G	A	COL5A1	c.5137-200G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137726617G>A	(Likely) benign	1 lab	83fe1c0224
3:196544879 MISSING G>Alt too long to show for this DUP	3	196544879	196670434	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.196544882_196670434dup	VUS	1 lab	83ff108b06
6:31324488 HLA-B C>CGGAG	6	31324488	31324489	C	CGGAG	HLA-B	c.319_320insCTCC	NM_005514.8	NP_005505.2:p.(Gly107AlafsTer33)	NC_000006.11:g.31324488_31324489insGGAG	(Likely) benign	1 lab	840358304f
13:48480585 MISSING Ref too long to show for this DEL>T	13	48480585	48528735	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.48480587_48528735del	(Likely) pathogenic	1 lab	8405792f3f
11:9864323 SBF2 A>G	11	9864323	9864323	A	G	SBF2	c.3111-6T>C	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9864323A>G	(Likely) benign	1 lab	8405888ead
16:29656483 MISSING Ref too long to show for this DEL>A	16	29656483	30198753	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29656484_30198753del	(Likely) pathogenic	1 lab	8405e14fe9
18:28648930 DSC2 T>G	18	28648930	28648930	T	G	DSC2	c.2438A>C	NM_004949.5	NP_004940.1:p.(His813Pro)	NC_000018.9:g.28648930T>G	VUS	1 lab	84068a38b4
1:197398216 CRB1 T>C	1	197398216	197398216	T	C	CRB1	c.2582T>C	NM_001257965.2	NP_001244894.1:p.(Phe861Ser)	NC_000001.10:g.197398216T>C	(Likely) benign	1 lab	84071c4bb0
9:137630076 COL5A1 C>T	9	137630076	137630076	C	T	COL5A1	c.1390-244C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630076C>T	(Likely) benign	1 lab	84093a9d5b
16:57993777 CNGB1 T>C	16	57993777	57993777	T	C	CNGB1	c.761+15A>G	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57993777T>C	(Likely) benign	1 lab	840b01fef3
13:50121311 RCBTB1 C>CAA	13	50121311	50121324	C	CAA	RCBTB1	c.466+2281_466+2282dup	NM_001352506.2	NP_001339435.1:p.?	NC_000013.10:g.50121323_50121324dup	(Likely) benign	1 lab	840b7b3612
12:21358913 SLCO1B1 C>T	12	21358913	21358913	C	T	SLCO1B1	c.1443C>T	NM_006446.5	NP_006437.3:p.(Tyr481=)	NC_000012.11:g.21358913C>T	(Likely) benign	1 lab	840b8da20d
8:59404274 CYP7A1 A>G	8	59404274	59404274	A	G	CYP7A1	c.1275T>C	NM_000780.4	NP_000771.2:p.(Cys425=)	NC_000008.10:g.59404274A>G	(Likely) benign	1 lab	840cc34a59
11:47359462 MYBPC3 T>TCCCC	11	47359462	47359465	T	TCCCC	MYBPC3	c.2309-118_2309-117insGGGG	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359464_47359465insCCCC	(Likely) benign	1 lab	840d35e07f
15:58855830 LIPC G>A	15	58855830	58855830	G	A	LIPC	c.1296G>A	NM_000236.3	NP_000227.2:p.(Thr432=)	NC_000015.9:g.58855830G>A	(Likely) benign	1 lab	840deae33a
13:32906986 BRCA2 G>A	13	32906986	32906986	G	A	BRCA2	c.1371G>A	NM_000059.4	NP_000050.3:p.(Lys457=)	NC_000013.10:g.32906986G>A	(Likely) benign	1 lab	840ee3f1d4
2:21229160 APOB C>A	2	21229160	21229160	C	A	APOB	c.10580G>T	NM_000384.3	NP_000375.3:p.(Arg3527Leu)	NC_000002.11:g.21229160C>A	(Likely) pathogenic	1 lab	84132d0a79
9:135202897 SETX C>T	9	135202897	135202897	C	T	SETX	c.4088G>A	NM_001351527.2	NP_001338456.1:p.(Arg1363Gln)	NC_000009.11:g.135202897C>T	VUS	1 lab	841701af20
19:1220430 STK11 A>G	19	1220430	1220430	A	G	STK11	c.523A>G	NM_000455.5	NP_000446.1:p.(Lys175Glu)	NC_000019.9:g.1220430A>G	VUS	1 lab	841acff6b5
21:34863257 MISSING Ref too long to show for this DEL>A	21	34863257	35171348	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.34863258_35171348del	(Likely) pathogenic	1 lab	841b0d34d7
18:47110052 LIPG G>A	18	47110052	47110052	G	A	LIPG	c.1284G>A	NM_006033.4	NP_006024.1:p.(Lys428=)	NC_000018.9:g.47110052G>A	(Likely) benign	1 lab	841cc71457
18:19371479 MIB1 A>G	18	19371479	19371479	A	G	MIB1	c.1053A>G	NM_020774.4	NP_065825.1:p.(Leu351=)	NC_000018.9:g.19371479A>G	(Likely) benign	1 lab	841d6e6d6b
19:7996071 TIMM44 G>A	19	7996071	7996071	G	A	TIMM44	c.990C>T	NM_006351.4	NP_006342.2:p.(Ala330=)	NC_000019.9:g.7996071G>A	(Likely) benign	1 lab	841eb01b28
15:58838033 LIPC T>A	15	58838033	58838033	T	A	LIPC	c.667T>A	NM_000236.3	NP_000227.2:p.(Phe223Ile)	NC_000015.9:g.58838033T>A	VUS	1 lab	8421009450
16:1004306 LMF1 G>A	16	1004306	1004306	G	A	LMF1	c.-52+51C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004306G>A	(Likely) benign	1 lab	84218dc5e8
X:99657814 PCDH19 G>C	X	99657814	99657814	G	C	PCDH19	c.2324C>G	NM_001184880.2	NP_001171809.1:p.(Ser775Ter)	NC_000023.10:g.99657814G>C	(Likely) pathogenic	1 lab	84227b205a
20:48452108 SLC9A8 T>Alt too long to show for this DUP	20	48452108	48483269	T	Alt too long to show for this DUP	SLC9A8	c.290-3966_958+1888dup	NM_015266.3	NP_056081.1:p.?	NC_000020.10:g.48452112_48483269dup	VUS	1 lab	8427e912e6
1:11190736 MTOR G>A	1	11190736	11190736	G	A	MTOR	c.5463C>T	NM_001386500.1	NP_001373429.1:p.(Ser1821=)	NC_000001.10:g.11190736G>A	(Likely) benign	1 lab	8428c57bd0
10:88439135 LDB3 C>G	10	88439135	88439135	C	G	LDB3	c.105C>G	NM_001171610.2	NP_001165081.1:p.(Gly35=)	NC_000010.10:g.88439135C>G	(Likely) benign	1 lab	842a812b26
1:12065841 MFN2 C>T	1	12065841	12065841	C	T	MFN2	c.1569C>T	NM_014874.4	NP_055689.1:p.(Ser523=)	NC_000001.10:g.12065841C>T	(Likely) benign	1 lab	842cf5a070
1:3102693 PRDM16 C>T	1	3102693	3102693	C	T	PRDM16	c.42C>T	NM_022114.4	NP_071397.3:p.(Asp14=)	NC_000001.10:g.3102693C>T	(Likely) benign	1 lab	842d25643b
X:85138506 CHM T>Alt too long to show for this DUP	X	85138506	85182572	T	Alt too long to show for this DUP	CHM	c.1167-16226_1511-4439dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85138510_85182572dup	VUS	1 lab	842dd71b23
17:39921023 JUP C>G	17	39921023	39921023	C	G	JUP	c.1100G>C	NM_002230.4	NP_002221.1:p.(Arg367Pro)	NC_000017.10:g.39921023C>G	VUS	1 lab	842eca3ce9
2:202430451 CATSPERT C>T	2	202430451	202430451	C	T	CATSPERT	c.977+1G>A	NM_001168221.2	NP_001161693.1:p.?	NC_000002.11:g.202430451C>T	(Likely) benign	1 lab	842f3a4b6f
12:32994428 PKP2 T>C	12	32994428	32994428	T	C	PKP2	c.1379-289A>G	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32994428T>C	(Likely) benign	1 lab	8431b175b2
7:151265809 PRKAG2 T>G	7	151265809	151265809	T	G	PRKAG2	c.1226A>C	NM_016203.4	NP_057287.2:p.(Gln409Pro)	NC_000007.13:g.151265809T>G	VUS	1 lab	843a02ef15
9:107593430 ABCA1 TA>T	9	107593430	107593451	TA	T	ABCA1	c.1716-49del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593451del	(Likely) benign	1 lab	843ebfea2c
5:60214170 ERCC8 C>CCACT	5	60214170	60214174	C	CCACT	ERCC8	c.143_146dup	NM_001007233.3	NP_001007234.1:p.(Trp49Ter)	NC_000005.9:g.60214171_60214174dup	(Likely) pathogenic	1 lab	8440c9762f
16:1004476 LMF1 C>G	16	1004476	1004476	C	G	LMF1	c.57G>C	NM_001352019.2	NP_001338948.1:p.(Leu19Phe)	NC_000016.9:g.1004476C>G	VUS	1 lab	844338c4d1
11:65306629 LTBP3 G>A	11	65306629	65306629	G	A	LTBP3	c.3834C>T	NM_001130144.3	NP_001123616.1:p.(Gly1278=)	NC_000011.9:g.65306629G>A	(Likely) benign	1 lab	844353a478
16:9022072 MISSING C>Alt too long to show for this DUP	16	9022072	9287762	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.9022073_9287762dup	VUS	1 lab	844377b663
16:943107 LMF1 A>G	16	943107	943107	A	G	LMF1	c.265-35T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943107A>G	(Likely) benign	1 lab	844828e636
8:69011769 MISSING A>Alt too long to show for this DUP	8	69011769	69300093	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.69011772_69300093dup	VUS	1 lab	844858479c
15:58853218 LIPC C>T	15	58853218	58853218	C	T	LIPC	c.1169+38C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853218C>T	(Likely) benign	1 lab	84491b5c19
2:21231510 APOB G>A	2	21231510	21231510	G	A	APOB	c.8230C>T	NM_000384.3	NP_000375.3:p.(Pro2744Ser)	NC_000002.11:g.21231510G>A	VUS	1 lab	8449472530
11:76796077 CAPN5 G>A	11	76796077	76796077	G	A	CAPN5	c.145G>A	NM_004055.5	NP_004046.2:p.(Val49Ile)	NC_000011.9:g.76796077G>A	(Likely) benign	1 lab	844be870e5
1:68914336 RPE65 A>G	1	68914336	68914336	A	G	RPE65	c.65T>C	NM_000329.3	NP_000320.1:p.(Leu22Pro)	NC_000001.10:g.68914336A>G	(Likely) pathogenic	1 lab	844c9eb50d
16:88504396 ZNF469 G>A	16	88504396	88504396	G	A	ZNF469	c.10518G>A	NM_001367624.2	NP_001354553.1:p.(Pro3506=)	NC_000016.9:g.88504396G>A	(Likely) benign	1 lab	844fd5175c
6:70973006 COL9A1 G>GA	6	70973006	70973014	G	GA	COL9A1	c.613-7dup	NM_078485.4	NP_511040.2:p.?	NC_000006.11:g.70973014dup	(Likely) benign	1 lab	8454fbb8b4
1:7995090 TNFRSF9 G>T	1	7995090	7995090	G	T	TNFRSF9	c.527C>A	NM_001561.6	NP_001552.2:p.(Ala176Asp)	NC_000001.10:g.7995090G>T	(Likely) benign	1 lab	8456059519
9:137644546 COL5A1 C>G	9	137644546	137644546	C	G	COL5A1	c.1719+55C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137644546C>G	(Likely) benign	1 lab	845a10157b
16:89831493 FANCA C>G	16	89831493	89831493	C	G	FANCA	c.2602-19G>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89831493C>G	(Likely) benign	1 lab	848d2be12e
13:52511412 ATP7B C>T	13	52511412	52511412	C	T	ATP7B	c.4021G>A	NM_000053.4	NP_000044.2:p.(Gly1341Ser)	NC_000013.10:g.52511412C>T	(Likely) pathogenic	1 lab	845aa06949
9:91949576 SECISBP2 A>T	9	91949576	91949576	A	T	SECISBP2	c.816A>T	NM_001282690.1	NP_001269619.1:p.(Pro272=)	NC_000009.11:g.91949576A>T	(Likely) benign	1 lab	8465830c80
8:59407166 CYP7A1 T>C	8	59407166	59407166	T	C	CYP7A1	c.938A>G	NM_000780.4	NP_000771.2:p.(Glu313Gly)	NC_000008.10:g.59407166T>C	VUS	1 lab	8467af056c
8:59409221 CYP7A1 A>T	8	59409221	59409221	A	T	CYP7A1	c.850T>A	NM_000780.4	NP_000771.2:p.(Trp284Arg)	NC_000008.10:g.59409221A>T	VUS	1 lab	846d6ea7f6
6:57512792 PRIM2 TAATTG>CAATT	6	57512792	57512797	TAATTG	CAATT	PRIM2	c.*103delinsATT	NM_000947.5	NP_000938.2:p.?	NC_000006.11:g.57512792_57512797delinsCAATT	(Likely) benign	1 lab	846ed4286c
1:3329277 PRDM16 T>C	1	3329277	3329277	T	C	PRDM16	c.2516T>C	NM_022114.4	NP_071397.3:p.(Leu839Pro)	NC_000001.10:g.3329277T>C	VUS	1 lab	8473acbd84
X:70443565 GJB1 G>A	X	70443565	70443565	G	A	GJB1	c.8G>A	NM_000166.6	NP_000157.1:p.(Trp3Ter)	NC_000023.10:g.70443565G>A	VUS	1 lab	8474fa3847
2:21232596 APOB G>T	2	21232596	21232596	G	T	APOB	c.7144C>A	NM_000384.3	NP_000375.3:p.(Gln2382Lys)	NC_000002.11:g.21232596G>T	(Likely) benign	1 lab	8476fbaa15
19:11216109 LDLR G>T	19	11216109	11216109	G	T	LDLR	c.527G>T	NM_000527.5	NP_000518.1:p.(Gly176Val)	NC_000019.9:g.11216109G>T	(Likely) pathogenic	1 lab	847b95bcdb
2:241726704 KIF1A G>A	2	241726704	241726704	G	A	KIF1A	c.393C>T	NM_001244008.2	NP_001230937.1:p.(Asn131=)	NC_000002.11:g.241726704G>A	(Likely) benign	1 lab	847c0a8910
19:54183417 MISSING Ref too long to show for this DEL>G	19	54183417	54199529	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.54183418_54199529del	VUS	1 lab	847dcc6ef4
16:21416285 NPIPB3 A>G	16	21416285	21416285	A	G	NPIPB3	c.972T>C	NM_130464.3	NP_569731.2:p.(Pro324=)	NC_000016.9:g.21416285A>G	(Likely) benign	1 lab	847e2c1fd0
5:150682208 MISSING Ref too long to show for this DEL>G	5	150682208	150712048	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.150682210_150712048del	VUS	1 lab	848431c50b
8:68031043 CSPP1 G>A	8	68031043	68031043	G	A	CSPP1	c.787G>A	NM_001291339.2	NP_001278268.1:p.(Ala263Thr)	NC_000008.10:g.68031043G>A	(Likely) benign	1 lab	848483d47f
9:35707716 TLN1 A>G	9	35707716	35707716	A	G	TLN1	c.4632+12T>C	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35707716A>G	(Likely) benign	1 lab	8484b38796
9:35723669 TLN1 C>T	9	35723669	35723669	C	T	TLN1	c.782+280G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35723669C>T	(Likely) benign	1 lab	8487448a66
1:55529107 PCSK9 C>T	1	55529107	55529107	C	T	PCSK9	c.1929C>T	NM_174936.4	NP_777596.2:p.(His643=)	NC_000001.10:g.55529107C>T	(Likely) benign	1 lab	8489a45845
Y:542752 MISSING C>Alt too long to show for this DUP	Y	542752	664282	C	Alt too long to show for this DUP	MISSING				NC_000024.9:g.542753_664282dup	VUS	1 lab	8489eb7f8e
10:17079749 MISSING G>Alt too long to show for this DUP	10	17079749	17215740	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.17079750_17215740dup	VUS	1 lab	848ce14b02
2:179438868 TTN G>C	2	179438868	179438868	G	C	TTN	c.71991C>G	NM_001267550.2	NP_001254479.2:p.(Phe23997Leu)	NC_000002.11:g.179438868G>C	VUS	1 lab	848d19b640
6:65016981 EYS A>G	6	65016981	65016981	A	G	EYS	c.6079-6T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65016981A>G	(Likely) benign	1 lab	848e6b6461
12:21608200 PYROXD1 A>T	12	21608200	21608200	A	T	PYROXD1	c.623A>T	NM_024854.5	NP_079130.2:p.(His208Leu)	NC_000012.11:g.21608200A>T	(Likely) benign	1 lab	848f81f301
21:47532276 COL6A2 G>A	21	47532276	47532276	G	A	COL6A2	c.499G>A	NM_058175.3	NP_478055.2:p.(Gly167Ser)	NC_000021.8:g.47532276G>A	VUS	1 lab	8492598640
7:151261269 PRKAG2 C>T	7	151261269	151261269	C	T	PRKAG2	c.1479G>A	NM_016203.4	NP_057287.2:p.(Thr493=)	NC_000007.13:g.151261269C>T	(Likely) benign	1 lab	8494d07f3b
15:48826377 FBN1 G>A	15	48826377	48826377	G	A	FBN1	c.762C>T	NM_000138.5	NP_000129.3:p.(Pro254=)	NC_000015.9:g.48826377G>A	(Likely) benign	1 lab	8496a8a504
2:179430442 TTN T>C	2	179430442	179430442	T	C	TTN	c.80417A>G	NM_001267550.2	NP_001254479.2:p.(His26806Arg)	NC_000002.11:g.179430442T>C	VUS	1 lab	849848a72e
X:99922290 SRPX2 C>G	X	99922290	99922290	C	G	SRPX2	c.981C>G	NM_014467.3	NP_055282.1:p.(Asn327Lys)	NC_000023.10:g.99922290C>G	VUS	1 lab	849bd86822
1:161277176 MPZ T>A	1	161277176	161277176	T	A	MPZ	c.106A>T	NM_000530.8	NP_000521.2:p.(Arg36Trp)	NC_000001.10:g.161277176T>A	(Likely) pathogenic	1 lab	849c7b9fbb
1:201013506 CACNA1S C>T	1	201013506	201013506	C	T	CACNA1S	c.4747G>A	NM_000069.3	NP_000060.2:p.(Glu1583Lys)	NC_000001.10:g.201013506C>T	(Likely) benign	1 lab	849ea7e2e9
16:88497100 ZNF469 C>T	16	88497100	88497100	C	T	ZNF469	c.3222C>T	NM_001367624.2	NP_001354553.1:p.(Ser1074=)	NC_000016.9:g.88497100C>T	(Likely) benign	1 lab	849f6b1a6d
12:125396902 UBC T>C	12	125396902	125396902	T	C	UBC	c.1416A>G	NM_021009.7	NP_066289.3:p.(Glu472=)	NC_000012.11:g.125396902T>C	(Likely) benign	1 lab	849fd20aed
X:53463824 MISSING Ref too long to show for this DEL>T	X	53463824	58543823	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.53463826_58543823del	(Likely) pathogenic	1 lab	84a10aedab
9:107571208 ABCA1 G>A	9	107571208	107571208	G	A	ABCA1	c.4274+539C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107571208G>A	(Likely) benign	1 lab	84a38204cd
19:36223191 KMT2B G>T	19	36223191	36223191	G	T	KMT2B	c.5741G>T	NM_014727.3	NP_055542.1:p.(Arg1914Leu)	NC_000019.9:g.36223191G>T	VUS	1 lab	84a9fc4e00
15:59175965 SLTM A>G	15	59175965	59175965	A	G	SLTM	c.2856T>C	NM_024755.4	NP_079031.2:p.(His952=)	NC_000015.9:g.59175965A>G	(Likely) benign	1 lab	84af26eed1
5:133956623 SAR1B T>C	5	133956623	133956623	T	C	SAR1B	c.178A>G	NM_001033503.3	NP_001028675.1:p.(Thr60Ala)	NC_000005.9:g.133956623T>C	VUS	1 lab	84af4af257
2:25061755 ADCY3 T>C	2	25061755	25061755	T	C	ADCY3	c.1382A>G	NM_001377128.1	NP_001364057.1:p.(Tyr461Cys)	NC_000002.11:g.25061755T>C	(Likely) benign	1 lab	84b4029981
19:11216246 LDLR T>C	19	11216246	11216246	T	C	LDLR	c.664T>C	NM_000527.5	NP_000518.1:p.(Cys222Arg)	NC_000019.9:g.11216246T>C	(Likely) pathogenic	1 lab	84b487520b
6:32489755 HLA-DRB5 GT>G	6	32489755	32489756	GT	G	HLA-DRB5	c.296del	NM_002125.4	NP_002116.2:p.(Asp99AlafsTer30)	NC_000006.11:g.32489756del	(Likely) benign	1 lab	84b7fd662e
16:922134 LMF1 T>C	16	922134	922134	T	C	LMF1	c.499-793A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.922134T>C	(Likely) benign	1 lab	84bee62ee9
14:23856977 MYH6 C>T	14	23856977	23856977	C	T	MYH6	c.4515G>A	NM_002471.4	NP_002462.2:p.(Lys1505=)	NC_000014.8:g.23856977C>T	(Likely) benign	1 lab	84bf9a8d6a
14:23862138 MYH6 C>T	14	23862138	23862138	C	T	MYH6	c.3234G>A	NM_002471.4	NP_002462.2:p.(Leu1078=)	NC_000014.8:g.23862138C>T	(Likely) benign	1 lab	84c05e96db
11:17415860 ABCC8 T>C	11	17415860	17415860	T	C	ABCC8	c.4564A>G	NM_001351295.2	NP_001338224.1:p.(Ser1522Gly)	NC_000011.9:g.17415860T>C	VUS	1 lab	84c10ae806
12:125279524 SCARB1 TG>T	12	125279524	125279528	TG	T	SCARB1	c.1202+216del	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279528del	(Likely) benign	1 lab	84c3a9b00c
7:18198016 MISSING Ref too long to show for this DEL>G	7	18198016	19737862	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.18198017_19737862del	(Likely) pathogenic	1 lab	84c5d98c49
12:57908633 MARS1 C>T	12	57908633	57908633	C	T	MARS1	c.2098C>T	NM_004990.4	NP_004981.2:p.(Arg700Trp)	NC_000012.11:g.57908633C>T	VUS	1 lab	84c7f71ebf
11:47372087 MYBPC3 G>T	11	47372087	47372087	G	T	MYBPC3	c.372C>A	NM_000256.3	NP_000247.2:p.(Ala124=)	NC_000011.9:g.47372087G>T	(Likely) benign	1 lab	84cb090f0a
3:14180778 TMEM43 A>G	3	14180778	14180778	A	G	TMEM43	c.981A>G	NM_024334.3	NP_077310.1:p.(Thr327=)	NC_000003.11:g.14180778A>G	(Likely) benign	1 lab	84cc4c07ba
11:68702882 IGHMBP2 A>T	11	68702882	68702882	A	T	IGHMBP2	c.1748A>T	NM_002180.3	NP_002171.2:p.(Asn583Ile)	NC_000011.9:g.68702882A>T	(Likely) pathogenic	1 lab	84ccae04ec
17:48278704 COL1A1 C>T	17	48278704	48278704	C	T	COL1A1	c.103+68G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48278704C>T	(Likely) benign	1 lab	84d371246f
6:7567557 DSP G>T	6	7567557	7567557	G	T	DSP	c.1045-30G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7567557G>T	(Likely) benign	1 lab	84d5659e77
10:74803701 P4HA1 T>G	10	74803701	74803701	T	G	P4HA1	c.1092A>C	NM_000917.4	NP_000908.2:p.(Thr364=)	NC_000010.10:g.74803701T>G	(Likely) benign	1 lab	84d6baeb5d
19:55665463 TNNI3 G>T	19	55665463	55665463	G	T	TNNI3	c.484C>A	NM_000363.5	NP_000354.4:p.(Arg162=)	NC_000019.9:g.55665463G>T	(Likely) benign	1 lab	84d79df4aa
X:38129004 RPGR T>C	X	38129004	38129004	T	C	RPGR	c.2323A>G	NM_000328.3	NP_000319.1:p.(Ile775Val)	NC_000023.10:g.38129004T>C	(Likely) benign	1 lab	84db126464
X:67518885 OPHN1 C>CT	X	67518885	67518886	C	CT	OPHN1	c.207_208insA	NM_002547.3	NP_002538.1:p.(Asp70ArgfsTer9)	NC_000023.10:g.67518885_67518886insT	(Likely) pathogenic	1 lab	84dd588d2f
19:49699994 TRPM4 C>T	19	49699994	49699994	C	T	TRPM4	c.2508C>T	NM_017636.4	NP_060106.2:p.(Gly836=)	NC_000019.9:g.49699994C>T	VUS	1 lab	84dea2bc90
13:110835417 COL4A1 C>G	13	110835417	110835417	C	G	COL4A1	c.2018G>C	NM_001845.6	NP_001836.3:p.(Gly673Ala)	NC_000013.10:g.110835417C>G	(Likely) pathogenic	1 lab	84e2169e3b
2:21257675 APOB C>T	2	21257675	21257675	C	T	APOB	c.904+13G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257675C>T	(Likely) benign	1 lab	84e64e1eaa
5:121409649 LOX GGT>G	5	121409649	121409651	GGT	G	LOX	c.1035+57_1035+58del	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121409650_121409651del	(Likely) benign	1 lab	84e739e5d1
14:102900938 TECPR2 C>T	14	102900938	102900938	C	T	TECPR2	c.1784C>T	NM_014844.5	NP_055659.2:p.(Thr595Met)	NC_000014.8:g.102900938C>T	VUS	1 lab	84e7d5fa80
2:44065056 ABCG5 C>A	2	44065056	44065056	C	A	ABCG5	c.182G>T	NM_022436.3	NP_071881.1:p.(Arg61Leu)	NC_000002.11:g.44065056C>A	VUS	1 lab	84e9204440
14:54418925 BMP4 G>C	14	54418925	54418925	G	C	BMP4	c.16C>G	NM_001202.6	NP_001193.2:p.(Arg6Gly)	NC_000014.8:g.54418925G>C	VUS	1 lab	84eb1971b3
14:105168043 INF2 G>A	14	105168043	105168043	G	A	INF2	c.341G>A	NM_022489.4	NP_071934.3:p.(Gly114Asp)	NC_000014.8:g.105168043G>A	(Likely) pathogenic	1 lab	84eba23ada
12:125284728 SCARB1 G>A	12	125284728	125284728	G	A	SCARB1	c.1070C>T	NM_001367981.1	NP_001354910.1:p.(Ala357Val)	NC_000012.11:g.125284728G>A	VUS	1 lab	84eeab0a48
4:70545566 MISSING A>Alt too long to show for this DUP	4	70545566	70596304	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.70545567_70596304dup	VUS	1 lab	84f0abe1e6
6:32036450 TNXB G>A	6	32036450	32036450	G	A	TNXB	c.5937C>T	NM_019105.8	NP_061978.6:p.(Thr1979=)	NC_000006.11:g.32036450G>A	(Likely) benign	1 lab	84f1c7f94d
9:137582388 COL5A1 G>A	9	137582388	137582388	G	A	COL5A1	c.110-370G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137582388G>A	(Likely) benign	1 lab	84f22ed43d
15:58853190 LIPC A>T	15	58853190	58853190	A	T	LIPC	c.1169+10A>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853190A>T	VUS	1 lab	84f387d64a
1:161276704 MPZ T>C	1	161276704	161276704	T	C	MPZ	c.242A>G	NM_000530.8	NP_000521.2:p.(His81Arg)	NC_000001.10:g.161276704T>C	(Likely) pathogenic	1 lab	84f6db6332
2:238273020 COL6A3 T>C	2	238273020	238273020	T	C	COL6A3	c.5890A>G	NM_004369.4	NP_004360.2:p.(Arg1964Gly)	NC_000002.11:g.238273020T>C	VUS	1 lab	84f9c09827
19:40902242 PRX T>C	19	40902242	40902242	T	C	PRX	c.2017A>G	NM_181882.3	NP_870998.2:p.(Met673Val)	NC_000019.9:g.40902242T>C	(Likely) benign	1 lab	84fe84e62d
20:33334734 NCOA6 TA>T	20	33334734	33334756	TA	T	NCOA6	c.2793-3del	NM_014071.5	NP_054790.2:p.?	NC_000020.10:g.33334756del	(Likely) benign	1 lab	8501571d10
2:179428654 TTN A>G	2	179428654	179428654	A	G	TTN	c.82205T>C	NM_001267550.2	NP_001254479.2:p.(Ile27402Thr)	NC_000002.11:g.179428654A>G	VUS	1 lab	8502b60cc7
3:14183085 TMEM43 T>A	3	14183085	14183085	T	A	TMEM43	c.1001-8T>A	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14183085T>A	(Likely) benign	1 lab	850472918e
11:116662406 APOA5 C>T	11	116662406	116662406	C	T	APOA5	c.57G>A	NM_052968.5	NP_443200.2:p.(Ser19=)	NC_000011.9:g.116662406C>T	(Likely) benign	1 lab	8507923cbb
X:64737958 LAS1L A>G	X	64737958	64737958	A	G	LAS1L	c.1836T>C	NM_031206.7	NP_112483.1:p.(Ser612=)	NC_000023.10:g.64737958A>G	(Likely) benign	1 lab	8507b07084
8:10469534 RP1L1 G>A	8	10469534	10469534	G	A	RP1L1	c.2074C>T	NM_178857.6	NP_849188.4:p.(Arg692Trp)	NC_000008.10:g.10469534G>A	(Likely) benign	1 lab	8507fe928d
1:94495969 ABCA4 C>T	1	94495969	94495969	C	T	ABCA4	c.4352+15G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94495969C>T	(Likely) benign	1 lab	8508473b70
15:85383403 ALPK3 A>G	15	85383403	85383403	A	G	ALPK3	c.893A>G	NM_020778.5	NP_065829.4:p.(Asp298Gly)	NC_000015.9:g.85383403A>G	VUS	1 lab	850973204d
16:15847629 MYH11 G>A	16	15847629	15847629	G	A	MYH11	c.1750-264C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15847629G>A	(Likely) benign	1 lab	850eacbb50
9:100616763 FOXE1 C>G	9	100616763	100616763	C	G	FOXE1	c.567C>G	NM_004473.4	NP_004464.2:p.(Arg189=)	NC_000009.11:g.100616763C>G	(Likely) benign	1 lab	85138c77ec
1:101203827 VCAM1 G>A	1	101203827	101203827	G	A	VCAM1	c.2208G>A	NM_001078.4	NP_001069.1:p.(Lys736=)	NC_000001.10:g.101203827G>A	(Likely) benign	1 lab	851519011d
12:21331538 SLCO1B1 G>A	12	21331538	21331538	G	A	SLCO1B1	c.510G>A	NM_006446.5	NP_006437.3:p.(Met170Ile)	NC_000012.11:g.21331538G>A	(Likely) benign	1 lab	851d1a7daf
19:6531148 TNFSF9 GGCT>G	19	6531148	6531169	GGCT	G	TNFSF9	c.120_122del	NM_003811.4	NP_003802.1:p.(Leu41del)	NC_000019.9:g.6531167_6531169del	(Likely) benign	1 lab	851e2e3afa
2:97845632 ANKRD36 T>C	2	97845632	97845632	T	C	ANKRD36	c.1697T>C	NM_001354587.1	NP_001341516.1:p.(Ile566Thr)	NC_000002.11:g.97845632T>C	(Likely) benign	1 lab	8521b3e56c
3:38602213 SCN5A G>A	3	38602213	38602213	G	A	SCN5A	c.3964-294C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38602213G>A	(Likely) benign	1 lab	852527bd1c
8:19805791 LPL C>T	8	19805791	19805791	C	T	LPL	c.189C>T	NM_000237.3	NP_000228.1:p.(Ser63=)	NC_000008.10:g.19805791C>T	(Likely) benign	1 lab	85257e526d
20:61463502 COL9A3 C>T	20	61463502	61463502	C	T	COL9A3	c.1288-4C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61463502C>T	(Likely) benign	1 lab	852a328821
10:27687761 PTCHD3 CT>C	10	27687761	27687762	CT	C	PTCHD3	c.1765del	NM_001034842.4	NP_001030014.2:p.(Arg589GlufsTer17)	NC_000010.10:g.27687762del	(Likely) benign	1 lab	852dd0d593
15:90188330 KIF7 C>T	15	90188330	90188330	C	T	KIF7	c.2105G>A	NM_198525.3	NP_940927.2:p.(Arg702Gln)	NC_000015.9:g.90188330C>T	VUS	1 lab	852e6f3f69
9:107624384 ABCA1 C>CT	9	107624384	107624397	C	CT	ABCA1	c.422-304dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624397dup	(Likely) benign	1 lab	8531c578e9
1:1722048 GNB1 C>T	1	1722048	1722048	C	T	GNB1	c.498-13G>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1722048C>T	(Likely) benign	1 lab	85334c99ad
19:15288669 NOTCH3 G>A	19	15288669	15288669	G	A	NOTCH3	c.4070C>T	NM_000435.3	NP_000426.2:p.(Pro1357Leu)	NC_000019.9:g.15288669G>A	VUS	1 lab	85339c83b0
17:37360863 RPL19 A>T	17	37360863	37360863	A	T	RPL19	c.553A>T	NM_000981.4	NP_000972.1:p.(Ile185Phe)	NC_000017.10:g.37360863A>T	(Likely) benign	1 lab	853431561a
1:215933022 USH2A T>C	1	215933022	215933022	T	C	USH2A	c.11211A>G	NM_206933.4	NP_996816.3:p.(Lys3737=)	NC_000001.10:g.215933022T>C	(Likely) benign	1 lab	8535e04261
22:41076982 MCHR1 T>C	22	41076982	41076982	T	C	MCHR1	c.112T>C	NM_005297.4	NP_005288.4:p.(Tyr38His)	NC_000022.10:g.41076982T>C	VUS	1 lab	853a13ecc7
2:21225119 APOB C>T	2	21225119	21225119	C	T	APOB	c.13175G>A	NM_000384.3	NP_000375.3:p.(Ser4392Asn)	NC_000002.11:g.21225119C>T	(Likely) benign	1 lab	853af439ad
9:94800660 SPTLC1 A>AAC	9	94800660	94800671	A	AAC	SPTLC1	c.1137-15_1137-14dup	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94800670_94800671dup	(Likely) benign	1 lab	853b308d96
2:179435506 TTN T>G	2	179435506	179435506	T	G	TTN	c.75353A>C	NM_001267550.2	NP_001254479.2:p.(Lys25118Thr)	NC_000002.11:g.179435506T>G	VUS	1 lab	8543d8cd46
2:189849427 COL3A1 C>T	2	189849427	189849427	C	T	COL3A1	c.80-59C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189849427C>T	(Likely) benign	1 lab	8544f0be09
7:100679445 MUC17 T>G	7	100679445	100679445	T	G	MUC17	c.4748T>G	NM_001040105.2	NP_001035194.1:p.(Met1583Arg)	NC_000007.13:g.100679445T>G	(Likely) benign	1 lab	854500cb50
17:57663596 DHX40 T>TA	17	57663596	57663614	T	TA	DHX40	c.1424+20dup	NM_024612.5	NP_078888.4:p.?	NC_000017.10:g.57663614dup	(Likely) benign	1 lab	8547cc6fa9
15:23892136 MAGEL2 G>C	15	23892136	23892136	G	C	MAGEL2	c.754C>G	NM_019066.5	NP_061939.3:p.(Pro252Ala)	NC_000015.9:g.23892136G>C	(Likely) benign	1 lab	854c6c4c20
1:94502851 ABCA4 C>T	1	94502851	94502851	C	T	ABCA4	c.3663G>A	NM_000350.3	NP_000341.2:p.(Leu1221=)	NC_000001.10:g.94502851C>T	(Likely) benign	1 lab	854e523676
2:21231253 APOB C>A	2	21231253	21231253	C	A	APOB	c.8487G>T	NM_000384.3	NP_000375.3:p.(Lys2829Asn)	NC_000002.11:g.21231253C>A	VUS	1 lab	85505aac06
20:61462024 COL9A3 A>C	20	61462024	61462024	A	C	COL9A3	c.1287+84A>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61462024A>C	(Likely) benign	1 lab	8551bd41fb
3:100948418 IMPG2 G>A	3	100948418	100948418	G	A	IMPG2	c.3439C>T	NM_016247.4	NP_057331.2:p.(Pro1147Ser)	NC_000003.11:g.100948418G>A	(Likely) benign	1 lab	8551f431c5
21:35743135 KCNE2 A>C	21	35743135	35743135	A	C	KCNE2	c.358A>C	NM_172201.2	NP_751951.1:p.(Lys120Gln)	NC_000021.8:g.35743135A>C	VUS	1 lab	8552ec456e
19:15311588 NOTCH3 C>G	19	15311588	15311588	C	G	NOTCH3	c.118+11G>C	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15311588C>G	(Likely) benign	1 lab	85582e79fc
14:68193740 RDH12 T>C	14	68193740	68193740	T	C	RDH12	c.491T>C	NM_152443.3	NP_689656.2:p.(Val164Ala)	NC_000014.8:g.68193740T>C	(Likely) benign	1 lab	855bf65d70
5:148408100 SH3TC2 A>G	5	148408100	148408100	A	G	SH3TC2	c.1195T>C	NM_024577.4	NP_078853.2:p.(Phe399Leu)	NC_000005.9:g.148408100A>G	(Likely) benign	1 lab	855c856978
4:16204120 TAPT1 T>G	4	16204120	16204120	T	G	TAPT1	c.414A>C	NM_153365.3	NP_699196.2:p.(Leu138=)	NC_000004.11:g.16204120T>G	(Likely) benign	1 lab	855d119302
6:116756804 DSE G>A	6	116756804	116756804	G	A	DSE	c.1173G>A	NM_013352.4	NP_037484.1:p.(Leu391=)	NC_000006.11:g.116756804G>A	(Likely) benign	1 lab	859c84c36e
7:100850108 PLOD3 G>A	7	100850108	100850108	G	A	PLOD3	c.2013C>T	NM_001084.5	NP_001075.1:p.(Ser671=)	NC_000007.13:g.100850108G>A	(Likely) benign	1 lab	8563f45c5d
13:25670777 PABPC3 A>G	13	25670777	25670777	A	G	PABPC3	c.441A>G	NM_030979.3	NP_112241.2:p.(Thr147=)	NC_000013.10:g.25670777A>G	(Likely) benign	1 lab	85677597f2
16:1003950 LMF1 CCCACCCCAAACCA>C	16	1003950	1003963	CCCACCCCAAACCA	C	LMF1	c.-52+394_-52+406del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003951_1003963del	(Likely) benign	1 lab	8567f74bd7
1:10364384 KIF1B A>G	1	10364384	10364384	A	G	KIF1B	c.3141A>G	NM_183416.4	NP_904325.2:p.(Leu1047=)	NC_000001.10:g.10364384A>G	(Likely) benign	1 lab	856a7e67c3
15:22698321 MISSING Ref too long to show for this DEL>G	15	22698321	23497071	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.22698323_23497071del	(Likely) pathogenic	1 lab	856ca6cff5
2:179612409 TTN T>C	2	179612409	179612409	T	C	TTN	c.14718A>G	NM_133379.5	NP_596870.2:p.(Thr4906=)	NC_000002.11:g.179612409T>C	(Likely) benign	1 lab	856dbad0d9
8:43037411 HGSNAT A>G	8	43037411	43037411	A	G	HGSNAT	c.1128+8A>G	NM_001363227.2	NP_001350156.1:p.?	NC_000008.10:g.43037411A>G	(Likely) benign	1 lab	856e46062b
7:138665833 KIAA1549 G>A	7	138665833	138665833	G	A	KIAA1549	c.183C>T	NM_001164665.2	NP_001158137.1:p.(Ala61=)	NC_000007.13:g.138665833G>A	(Likely) benign	1 lab	856f5dd4cb
6:75866171 COL12A1 G>T	6	75866171	75866171	G	T	COL12A1	c.3052C>A	NM_004370.6	NP_004361.3:p.(Pro1018Thr)	NC_000006.11:g.75866171G>T	VUS	1 lab	857615823b
6:7572059 DSP T>A	6	7572059	7572059	T	A	DSP	c.1904-16T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572059T>A	(Likely) benign	1 lab	8576ae1c8f
2:21236225 APOB G>C	2	21236225	21236225	G	C	APOB	c.4023C>G	NM_000384.3	NP_000375.3:p.(Thr1341=)	NC_000002.11:g.21236225G>C	(Likely) benign	1 lab	85786cd8c3
1:11907282 NPPA C>G	1	11907282	11907282	C	G	NPPA	c.338G>C	NM_006172.4	NP_006163.1:p.(Ser113Thr)	NC_000001.10:g.11907282C>G	VUS	1 lab	857dab5baa
22:20714022 MISSING T>Alt too long to show for this DUP	22	20714022	21522853	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20714023_21522853dup	(Likely) pathogenic	1 lab	884e28003b
16:70316680 AARS1 C>T	16	70316680	70316680	C	T	AARS1	c.-14G>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70316680C>T	(Likely) benign	1 lab	858556bea0
11:48149352 PTPRJ G>A	11	48149352	48149352	G	A	PTPRJ	c.1114G>A	NM_002843.4	NP_002834.3:p.(Val372Ile)	NC_000011.9:g.48149352G>A	(Likely) benign	1 lab	8585d17c19
15:58837950 LIPC C>T	15	58837950	58837950	C	T	LIPC	c.584C>T	NM_000236.3	NP_000227.2:p.(Ala195Val)	NC_000015.9:g.58837950C>T	VUS	1 lab	8587b3ae6f
7:75933158 HSPB1 C>T	7	75933158	75933158	C	T	HSPB1	c.404C>T	NM_001540.5	NP_001531.1:p.(Ser135Phe)	NC_000007.13:g.75933158C>T	(Likely) pathogenic	1 lab	858c2a7582
1:63069737 ANGPTL3 T>G	1	63069737	63069737	T	G	ANGPTL3	c.1029T>G	NM_014495.4	NP_055310.1:p.(His343Gln)	NC_000001.10:g.63069737T>G	(Likely) benign	1 lab	858c809e5a
12:110230591 TRPV4 C>T	12	110230591	110230591	C	T	TRPV4	c.1690G>A	NM_021625.5	NP_067638.3:p.(Ala564Thr)	NC_000012.11:g.110230591C>T	VUS	1 lab	858d671e34
13:114426137 GRK1 G>A	13	114426137	114426137	G	A	GRK1	c.1069+7G>A	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114426137G>A	(Likely) benign	1 lab	858e3c8aed
7:30649212 GARS1 T>C	7	30649212	30649212	T	C	GARS1	c.585T>C	NM_001316772.1	NP_001303701.1:p.(Tyr195=)	NC_000007.13:g.30649212T>C	(Likely) benign	1 lab	85939d47ef
11:31811484 ELP4 A>T	11	31811484	31811484	A	T	ELP4	c.*6398A>T	NM_001288725.2	NP_001275654.1:p.?	NC_000011.9:g.31811484A>T	(Likely) benign	1 lab	85954d54b0
16:46781895 MYLK3 G>A	16	46781895	46781895	G	A	MYLK3	c.211C>T	NM_182493.3	NP_872299.2:p.(Arg71Trp)	NC_000016.9:g.46781895G>A	VUS	1 lab	85a97d1695
6:7578704 DSP A>G	6	7578704	7578704	A	G	DSP	c.2993A>G	NM_004415.4	NP_004406.2:p.(Asp998Gly)	NC_000006.11:g.7578704A>G	VUS	1 lab	85963c6bc2
X:100655623 GLA G>C	X	100655623	100655623	G	C	GLA	c.639+31C>G	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100655623G>C	(Likely) benign	1 lab	8596986948
17:1490237 SLC43A2 G>C	17	1490237	1490237	G	C	SLC43A2	c.1090+6C>G	NM_001284498.2	NP_001271427.1:p.?	NC_000017.10:g.1490237G>C	(Likely) benign	1 lab	859a796a9b
10:92679968 ANKRD1 C>G	10	92679968	92679968	C	G	ANKRD1	c.165G>C	NM_014391.3	NP_055206.2:p.(Leu55=)	NC_000010.10:g.92679968C>G	(Likely) benign	1 lab	85a51e92a8
10:52913020 PRKG1 G>A	10	52913020	52913020	G	A	PRKG1	c.363G>A	NM_001098512.3	NP_001091982.1:p.(Pro121=)	NC_000010.10:g.52913020G>A	(Likely) benign	1 lab	85a6d0c7b5
6:112150371 FYN Ref too long to show for this DEL>G	6	112150371	112181109	Ref too long to show for this DEL	G	FYN	c.-123+13062_-82+17420del	NM_002037.5	NP_002028.1:p.?	NC_000006.11:g.112150372_112181109del	VUS	1 lab	85a92a4cfc
15:71433786 MISSING A>G	15	71433786	71433786	A	G	MISSING				NC_000015.9:g.71433786A>G	VUS	1 lab	85aab9e5d2
5:95224697 ELL2 G>A	5	95224697	95224697	G	A	ELL2	c.1807-6C>T	NM_012081.6	NP_036213.2:p.?	NC_000005.9:g.95224697G>A	(Likely) benign	1 lab	85ada73c74
11:68131519 LRP5 G>A	11	68131519	68131519	G	A	LRP5	c.883+108G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68131519G>A	(Likely) benign	1 lab	85aee6e67e
22:50885737 SBF1 C>CG	22	50885737	50885739	C	CG	SBF1	c.5583+13dup	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50885739dup	(Likely) benign	1 lab	85b4770e8a
17:78086747 GAA CAGA>C	17	78086747	78086750	CAGA	C	GAA	c.1962_1964del	NM_000152.5	NP_000143.2:p.(Glu656del)	NC_000017.10:g.78086748_78086750del	(Likely) pathogenic	1 lab	85b4bde86a
17:41228509 BRCA1 C>T	17	41228509	41228509	C	T	BRCA1	c.4480G>A	NM_007294.4	NP_009225.1:p.(Glu1494Lys)	NC_000017.10:g.41228509C>T	(Likely) benign	1 lab	85b662b678
3:49688095 BSN C>T	3	49688095	49688095	C	T	BSN	c.1569C>T	NM_003458.4	NP_003449.2:p.(Gly523=)	NC_000003.11:g.49688095C>T	(Likely) benign	1 lab	85bba5f335
16:16251550 ABCC6 G>A	16	16251550	16251550	G	A	ABCC6	c.3852C>T	NM_001171.6	NP_001162.5:p.(Gly1284=)	NC_000016.9:g.16251550G>A	(Likely) benign	1 lab	85bfed40d1
2:21247927 APOB C>T	2	21247927	21247927	C	T	APOB	c.2314G>A	NM_000384.3	NP_000375.3:p.(Glu772Lys)	NC_000002.11:g.21247927C>T	VUS	1 lab	85c2fd744d
8:59404998 CYP7A1 C>T	8	59404998	59404998	C	T	CYP7A1	c.1129G>A	NM_000780.4	NP_000771.2:p.(Gly377Ser)	NC_000008.10:g.59404998C>T	(Likely) benign	1 lab	85c5056a21
22:26853826 HPS4 T>C	22	26853826	26853826	T	C	HPS4	c.1954A>G	NM_022081.6	NP_071364.4:p.(Arg652Gly)	NC_000022.10:g.26853826T>C	VUS	1 lab	85c8e92893
4:114214662 ANK2 G>A	4	114214662	114214662	G	A	ANK2	c.2443G>A	NM_001148.6	NP_001139.3:p.(Val815Ile)	NC_000004.11:g.114214662G>A	VUS	1 lab	85c9fb4c13
15:73617678 HCN4 C>G	15	73617678	73617678	C	G	HCN4	c.1698G>C	NM_005477.3	NP_005468.1:p.(Glu566Asp)	NC_000015.9:g.73617678C>G	VUS	1 lab	85cbf89d51
16:929630 LMF1 G>T	16	929630	929630	G	T	LMF1	c.837C>A	NM_022773.4	NP_073610.2:p.(Phe279Leu)	NC_000016.9:g.929630G>T	(Likely) benign	1 lab	85ce89daf5
11:95574825 MTMR2 C>T	11	95574825	95574825	C	T	MTMR2	c.1219G>A	NM_001243571.2	NP_001230500.1:p.(Val407Ile)	NC_000011.9:g.95574825C>T	VUS	1 lab	85cf11b4b6
2:152427010 NEB C>T	2	152427010	152427010	C	T	NEB	c.17118+1G>A	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152427010C>T	(Likely) pathogenic	1 lab	85d1689fca
6:143678133 MISSING Ref too long to show for this DEL>T	6	143678133	143749624	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.143678134_143749624del	VUS	1 lab	85d2033dcc
2:179398793 TTN G>A	2	179398793	179398793	G	A	TTN	c.102549C>T	NM_001267550.2	NP_001254479.2:p.(Tyr34183=)	NC_000002.11:g.179398793G>A	(Likely) benign	1 lab	85d3d969f9
10:104353432 SUFU C>G	10	104353432	104353432	C	G	SUFU	c.637C>G	NM_016169.4	NP_057253.2:p.(Gln213Glu)	NC_000010.10:g.104353432C>G	VUS	1 lab	85d4048330
2:21236099 APOB G>A	2	21236099	21236099	G	A	APOB	c.4149C>T	NM_000384.3	NP_000375.3:p.(Phe1383=)	NC_000002.11:g.21236099G>A	(Likely) benign	1 lab	85d4ec1fc3
1:193107187 CDC73 A>G	1	193107187	193107187	A	G	CDC73	c.424-28A>G	NM_024529.5	NP_078805.3:p.?	NC_000001.10:g.193107187A>G	(Likely) benign	1 lab	85d640b7d0
6:76057277 MISSING C>Alt too long to show for this DUP	6	76057277	76257975	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.76057280_76257975dup	VUS	1 lab	85dc9de96e
21:47410200 COL6A1 T>C	21	47410200	47410200	T	C	COL6A1	c.957+2T>C	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410200T>C	(Likely) pathogenic	1 lab	85dd05899d
1:77094301 ST6GALNAC3 C>T	1	77094301	77094301	C	T	ST6GALNAC3	c.732-4C>T	NM_152996.4	NP_694541.2:p.?	NC_000001.10:g.77094301C>T	(Likely) benign	1 lab	85df4c4f44
16:89986318 MC1R G>A	16	89986318	89986318	G	A	MC1R	c.652G>A	NM_002386.4	NP_002377.4:p.(Ala218Thr)	NC_000016.9:g.89986318G>A	VUS	1 lab	85e4199be3
1:74957823 TNNI3K CCTT>C	1	74957823	74957837	CCTT	C	TNNI3K	c.2236_2238del	NM_015978.3	NP_057062.1:p.(Ser746del)	NC_000001.10:g.74957835_74957837del	VUS	1 lab	85e8459553
11:6644503 DCHS1 G>A	11	6644503	6644503	G	A	DCHS1	c.8404C>T	NM_003737.4	NP_003728.1:p.(Leu2802=)	NC_000011.9:g.6644503G>A	(Likely) benign	1 lab	85e95a3762
1:34610181 MISSING T>Alt too long to show for this DUP	1	34610181	34705825	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.34610182_34705825dup	VUS	1 lab	85e968d25d
19:47112413 CALM3 GC>G	19	47112413	47112419	GC	G	CALM3	c.*9del	NM_005184.4	NP_005175.2:p.?	NC_000019.9:g.47112419del	(Likely) benign	1 lab	85e9d7d301
2:179433819 TTN C>T	2	179433819	179433819	C	T	TTN	c.77040G>A	NM_001267550.2	NP_001254479.2:p.(Glu25680=)	NC_000002.11:g.179433819C>T	(Likely) benign	1 lab	85ebf5afd8
4:100504677 MTTP A>T	4	100504677	100504677	A	T	MTTP	c.393+3A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504677A>T	(Likely) pathogenic	1 lab	85f142eaa3
2:21234432 APOB G>A	2	21234432	21234432	G	A	APOB	c.5308C>T	NM_000384.3	NP_000375.3:p.(Leu1770Phe)	NC_000002.11:g.21234432G>A	VUS	1 lab	85f5f0d883
4:114161754 ANK2 A>G	4	114161754	114161754	A	G	ANK2	c.792+15A>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114161754A>G	(Likely) benign	1 lab	85f85e2356
17:78169391 CARD14 G>T	17	78169391	78169391	G	T	CARD14	c.1534G>T	NM_001366385.1	NP_001353314.1:p.(Ala512Ser)	NC_000017.10:g.78169391G>T	VUS	1 lab	85fa35c606
3:21677402 ZNF385D Ref too long to show for this DEL>T	3	21677402	21731567	Ref too long to show for this DEL	T	ZNF385D	c.23-25047_165+28975del	NM_024697.3	NP_078973.1:p.?	NC_000003.11:g.21677403_21731567del	VUS	1 lab	85fd45207a
19:1789928 ATP8B3 C>T	19	1789928	1789928	C	T	ATP8B3	c.2439G>A	NM_138813.4	NP_620168.1:p.(Ser813=)	NC_000019.9:g.1789928C>T	(Likely) benign	1 lab	85fdf27589
17:37821623 TCAP CAG>C	17	37821623	37821627	CAG	C	TCAP	c.14_15del	NM_003673.4	NP_003664.1:p.(Glu5AlafsTer11)	NC_000017.10:g.37821626_37821627del	(Likely) pathogenic	1 lab	8600e34173
19:15296411 NOTCH3 A>G	19	15296411	15296411	A	G	NOTCH3	c.2031T>C	NM_000435.3	NP_000426.2:p.(Asn677=)	NC_000019.9:g.15296411A>G	(Likely) benign	1 lab	86012d39f9
5:37183802 CPLANE1 C>A	5	37183802	37183802	C	A	CPLANE1	c.4482-1G>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37183802C>A	(Likely) pathogenic	1 lab	860380fdce
9:107602554 ABCA1 A>G	9	107602554	107602554	A	G	ABCA1	c.1054+6T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107602554A>G	VUS	1 lab	8604ee269b
7:50143715 SPMIP7 Ref too long to show for this DEL>T	7	50143715	50148286	Ref too long to show for this DEL	T	SPMIP7	c.554-194_651+4279del	NM_001161834.3	NP_001155306.3:p.?	NC_000007.13:g.50143716_50148286del	VUS	1 lab	860781ebaa
8:55539589 RP1 AAAACTTGTTTACCAGG>A	8	55539589	55539608	AAAACTTGTTTACCAGG	A	RP1	c.3151_3166del	NM_006269.2	NP_006260.1:p.(Leu1051Ter)	NC_000008.10:g.55539593_55539608del	(Likely) pathogenic	1 lab	860c539efc
20:42744695 JPH2 G>A	20	42744695	42744695	G	A	JPH2	c.1620C>T	NM_020433.5	NP_065166.2:p.(Thr540=)	NC_000020.10:g.42744695G>A	(Likely) benign	1 lab	860f775aec
1:150547073 MISSING Ref too long to show for this DEL>G	1	150547073	150576924	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.150547074_150576924del	VUS	1 lab	861419b7b3
6:32012425 TNXB C>T	6	32012425	32012425	C	T	TNXB	c.10990G>A	NM_019105.8	NP_061978.6:p.(Val3664Met)	NC_000006.11:g.32012425C>T	VUS	1 lab	8618a6e4e0
X:2953503 MISSING C>Alt too long to show for this DUP	X	2953503	3259868	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2953504_3259868dup	VUS	1 lab	862122e7da
3:25637911 RARB G>A	3	25637911	25637911	G	A	RARB	c.1151G>A	NM_000965.5	NP_000956.2:p.(Gly384Asp)	NC_000003.11:g.25637911G>A	VUS	1 lab	8623ac88e3
16:984113 LMF1 C>A	16	984113	984113	C	A	LMF1	c.-8G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.984113C>A	(Likely) benign	1 lab	8626d4d2e2
2:74789300 MISSING C>Alt too long to show for this DUP	2	74789300	75366298	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74789301_75366298dup	VUS	1 lab	8626efd761
18:77513841 CTDP1 G>A	18	77513841	77513841	G	A	CTDP1	c.*51G>A	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77513841G>A	(Likely) benign	1 lab	86288b6029
15:58853108 LIPC C>T	15	58853108	58853108	C	T	LIPC	c.1097C>T	NM_000236.3	NP_000227.2:p.(Thr366Ile)	NC_000015.9:g.58853108C>T	VUS	1 lab	8628ab74a1
17:1675378 SERPINF1 G>A	17	1675378	1675378	G	A	SERPINF1	c.643+9G>A	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1675378G>A	(Likely) benign	1 lab	8628d06647
19:11216104 LDLR AG>A	19	11216104	11216105	AG	A	LDLR	c.523del	NM_000527.5	NP_000518.1:p.(Asp175MetfsTer31)	NC_000019.9:g.11216105del	(Likely) pathogenic	1 lab	8629acdb8d
19:47112104 CALM3 A>G	19	47112104	47112104	A	G	CALM3	c.287A>G	NM_005184.4	NP_005175.2:p.(Asp96Gly)	NC_000019.9:g.47112104A>G	VUS	1 lab	8629b2e23a
6:100838271 SIM1 T>C	6	100838271	100838271	T	C	SIM1	c.2267A>G	NM_005068.3	NP_005059.2:p.(Lys756Arg)	NC_000006.11:g.100838271T>C	VUS	1 lab	862aca64eb
19:11224423 LDLR T>C	19	11224423	11224423	T	C	LDLR	c.1571T>C	NM_000527.5	NP_000518.1:p.(Val524Ala)	NC_000019.9:g.11224423T>C	(Likely) pathogenic	1 lab	862c455875
12:57910029 MARS1 C>T	12	57910029	57910029	C	T	MARS1	c.2465C>T	NM_004990.4	NP_004981.2:p.(Ala822Val)	NC_000012.11:g.57910029C>T	VUS	1 lab	862cc93bcb
5:13793819 DNAH5 G>A	5	13793819	13793819	G	A	DNAH5	c.8029C>T	NM_001369.3	NP_001360.1:p.(Arg2677Ter)	NC_000005.9:g.13793819G>A	(Likely) pathogenic	1 lab	862f656609
19:11218156 LDLR C>G	19	11218156	11218156	C	G	LDLR	c.906C>G	NM_000527.5	NP_000518.1:p.(Cys302Trp)	NC_000019.9:g.11218156C>G	(Likely) pathogenic	1 lab	863077c4b0
11:47366851 MYBPC3 G>A	11	47366851	47366851	G	A	MYBPC3	c.1090+907C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366851G>A	(Likely) benign	1 lab	8633b2cf85
1:2161004 SKI C>T	1	2161004	2161004	C	T	SKI	c.799C>T	NM_003036.4	NP_003027.1:p.(Leu267=)	NC_000001.10:g.2161004C>T	(Likely) benign	1 lab	8636992d95
15:73617408 HCN4 G>C	15	73617408	73617408	G	C	HCN4	c.1866C>G	NM_005477.3	NP_005468.1:p.(Ile622Met)	NC_000015.9:g.73617408G>C	VUS	1 lab	8636d7167e
1:1469302 ATAD3A C>G	1	1469302	1469302	C	G	ATAD3A	c.1759-4C>G	NM_018188.5	NP_060658.3:p.?	NC_000001.10:g.1469302C>G	VUS	1 lab	863826677b
17:36485311 GPR179 A>G	17	36485311	36485311	A	G	GPR179	c.4141T>C	NM_001004334.4	NP_001004334.3:p.(Cys1381Arg)	NC_000017.10:g.36485311A>G	(Likely) benign	1 lab	86384e1a74
7:69952406 AUTS2 T>Alt too long to show for this DUP	7	69952406	70010116	T	Alt too long to show for this DUP	AUTS2	c.690+51641_690+109349dup	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69952408_70010116dup	VUS	1 lab	863bb61391
2:179434985 TTN C>T	2	179434985	179434985	C	T	TTN	c.75874G>A	NM_001267550.2	NP_001254479.2:p.(Glu25292Lys)	NC_000002.11:g.179434985C>T	VUS	1 lab	86476d35ee
2:73030135 MISSING A>Alt too long to show for this DUP	2	73030135	73070978	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.73030137_73070978dup	VUS	1 lab	864b93655d
18:47102211 LIPG CT>C	18	47102211	47102225	CT	C	LIPG	c.793+265del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47102225del	(Likely) benign	1 lab	864dbf9f3d
18:77513794 CTDP1 C>T	18	77513794	77513794	C	T	CTDP1	c.*123C>T	NM_048368.4	NP_430255.2:p.?	NC_000018.9:g.77513794C>T	(Likely) benign	1 lab	864f536634
X:41333479 NYX C>T	X	41333479	41333479	C	T	NYX	c.773C>T	NM_022567.2	NP_072089.1:p.(Thr258Met)	NC_000023.10:g.41333479C>T	(Likely) benign	1 lab	864fc606df
16:17211843 XYLT1 CAG>C	16	17211843	17211845	CAG	C	XYLT1	c.2224-9_2224-8del	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17211844_17211845del	(Likely) benign	1 lab	8650aae8e0
8:19818550 LPL C>T	8	19818550	19818550	C	T	LPL	c.1278C>T	NM_000237.3	NP_000228.1:p.(Phe426=)	NC_000008.10:g.19818550C>T	(Likely) benign	1 lab	8650b49f34
9:432165 DOCK8 G>T	9	432165	432165	G	T	DOCK8	c.4627-1G>T	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.432165G>T	(Likely) pathogenic	1 lab	86518dff4a
15:58853631 LIPC G>T	15	58853631	58853631	G	T	LIPC	c.1169+451G>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853631G>T	(Likely) benign	1 lab	8651ebab7f
6:32065219 TNXB T>C	6	32065219	32065219	T	C	TNXB	c.411A>G	NM_019105.8	NP_061978.6:p.(Thr137=)	NC_000006.11:g.32065219T>C	(Likely) benign	1 lab	865248f2ec
22:29092902 CHEK2 T>C	22	29092902	29092902	T	C	CHEK2	c.1082A>G	NM_007194.4	NP_009125.1:p.(Asp361Gly)	NC_000022.10:g.29092902T>C	VUS	1 lab	86543fdc6c
18:10677880 PIEZO2 G>GA	18	10677880	10677891	G	GA	PIEZO2	c.7614-9dup	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10677891dup	(Likely) benign	1 lab	8659e5195f
12:21377664 SLCO1B1 C>A	12	21377664	21377664	C	A	SLCO1B1	c.1756C>A	NM_006446.5	NP_006437.3:p.(Leu586Ile)	NC_000012.11:g.21377664C>A	(Likely) benign	1 lab	865afb48ca
X:44928875 KDM6A CCT>C	X	44928875	44928883	CCT	C	KDM6A	c.2138_2139del	NM_001291415.2	NP_001278344.1:p.(Ser713PhefsTer26)	NC_000023.10:g.44928882_44928883del	(Likely) pathogenic	1 lab	865c270893
15:72041080 THSD4 G>T	15	72041080	72041080	G	T	THSD4	c.1335+147G>T	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72041080G>T	(Likely) benign	1 lab	8666451d5f
11:2869001 KCNQ1 C>T	11	2869001	2869001	C	T	KCNQ1	c.1799C>T	NM_000218.3	NP_000209.2:p.(Thr600Met)	NC_000011.9:g.2869001C>T	(Likely) benign	1 lab	866b870ed5
16:28499030 CLN3 G>A	16	28499030	28499030	G	A	CLN3	c.327C>T	NM_001042432.2	NP_001035897.1:p.(Leu109=)	NC_000016.9:g.28499030G>A	(Likely) benign	1 lab	866e57dcc8
2:21235489 APOB C>T	2	21235489	21235489	C	T	APOB	c.4251G>A	NM_000384.3	NP_000375.3:p.(Thr1417=)	NC_000002.11:g.21235489C>T	(Likely) benign	1 lab	8671ac90fc
22:24109588 CHCHD10 C>T	22	24109588	24109588	C	T	CHCHD10	c.234G>A	NM_001301339.2	NP_001288268.1:p.(Ser78=)	NC_000022.10:g.24109588C>T	(Likely) benign	1 lab	86735dbd7e
2:189863850 COL3A1 T>C	2	189863850	189863850	T	C	COL3A1	c.2023-161T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863850T>C	(Likely) benign	1 lab	8673c1f7ce
19:11348329 DOCK6 G>A	19	11348329	11348329	G	A	DOCK6	c.1959C>T	NM_001367830.1	NP_001354759.1:p.(Pro653=)	NC_000019.9:g.11348329G>A	(Likely) benign	1 lab	8675343c93
12:1920837 CACNA2D4 T>G	12	1920837	1920837	T	G	CACNA2D4	c.2604A>C	NM_172364.5	NP_758952.4:p.(Ala868=)	NC_000012.11:g.1920837T>G	(Likely) benign	1 lab	867747cf1f
2:220299815 SPEG T>C	2	220299815	220299815	T	C	SPEG	c.116T>C	NM_005876.5	NP_005867.3:p.(Val39Ala)	NC_000002.11:g.220299815T>C	(Likely) benign	1 lab	8677cbafeb
22:43015879 CYB5R3 G>A	22	43015879	43015879	G	A	CYB5R3	c.737C>T	NM_001129819.2	NP_001123291.1:p.(Pro246Leu)	NC_000022.10:g.43015879G>A	(Likely) pathogenic	1 lab	867803130c
2:179457197 TTN A>C	2	179457197	179457197	A	C	TTN	c.59535T>G	NM_001267550.2	NP_001254479.2:p.(Arg19845=)	NC_000002.11:g.179457197A>C	(Likely) benign	1 lab	8678757bb2
15:77134244 SCAPER G>A	15	77134244	77134244	G	A	SCAPER	c.224C>T	NM_001353009.2	NP_001339938.1:p.(Ser75Leu)	NC_000015.9:g.77134244G>A	(Likely) benign	1 lab	867b8622f7
11:108143576 ATM A>G	11	108143576	108143576	A	G	ATM	c.3281A>G	NM_000051.4	NP_000042.3:p.(Asn1094Ser)	NC_000011.9:g.108143576A>G	(Likely) benign	1 lab	867c161bb5
1:237774051 RYR2 C>T	1	237774051	237774051	C	T	RYR2	c.4684-11C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237774051C>T	(Likely) benign	1 lab	867db16630
9:38418678 IGFBPL1 Ref too long to show for this DEL>A	9	38418678	38422112	Ref too long to show for this DEL	A	IGFBPL1	c.460+1851_461-4479del	NM_001007563.3	NP_001007564.1:p.?	NC_000009.11:g.38418680_38422112del	VUS	1 lab	867ef4afda
X:38131845 RPGR C>CAA	X	38131845	38131860	C	CAA	RPGR	c.2241+792_2241+793dup	NM_000328.3	NP_000319.1:p.?	NC_000023.10:g.38131859_38131860dup	(Likely) benign	1 lab	867fd8958e
12:50500104 GPD1 A>G	12	50500104	50500104	A	G	GPD1	c.394A>G	NM_005276.4	NP_005267.2:p.(Ile132Val)	NC_000012.11:g.50500104A>G	VUS	1 lab	86962f98a8
4:100518483 MTTP A>T	4	100518483	100518483	A	T	MTTP	c.1067+102A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100518483A>T	(Likely) benign	1 lab	8681769fbe
12:49437175 KMT2D C>CG	12	49437175	49437178	C	CG	KMT2D	c.5503dup	NM_003482.4	NP_003473.3:p.(Arg1835ProfsTer13)	NC_000012.11:g.49437178dup	(Likely) pathogenic	1 lab	8681fe35dd
17:65889832 BPTF C>CTGAT	17	65889832	65889833	C	CTGAT	BPTF	c.2402_2403insTGAT	NM_182641.4	NP_872579.2:p.(Ser802AspfsTer4)	NC_000017.10:g.65889832_65889833insTGAT	(Likely) pathogenic	1 lab	86848bee31
4:114224015 ANK2 T>A	4	114224015	114224015	T	A	ANK2	c.2548+20T>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114224015T>A	(Likely) benign	1 lab	86880ae827
18:29078250 DSG2 G>A	18	29078250	29078250	G	A	DSG2	c.36G>A	NM_001943.5	NP_001934.2:p.(Leu12=)	NC_000018.9:g.29078250G>A	(Likely) benign	1 lab	86888a0311
18:29178580 TTR C>T	18	29178580	29178580	C	T	TTR	c.386C>T	NM_000371.4	NP_000362.1:p.(Ala129Val)	NC_000018.9:g.29178580C>T	VUS	1 lab	868923ac55
16:88786640 PIEZO1 G>A	16	88786640	88786640	G	A	PIEZO1	c.6001C>T	NM_001142864.4	NP_001136336.2:p.(Pro2001Ser)	NC_000016.9:g.88786640G>A	VUS	1 lab	868ef5fa45
1:94484002 ABCA4 G>T	1	94484002	94484002	G	T	ABCA4	c.5196+1136C>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94484002G>T	(Likely) benign	1 lab	86926aeaa3
1:214588012 PTPN14 T>C	1	214588012	214588012	T	C	PTPN14	c.402A>G	NM_005401.5	NP_005392.2:p.(Thr134=)	NC_000001.10:g.214588012T>C	(Likely) benign	1 lab	8695b30acb
X:118390136 MISSING Ref too long to show for this DEL>A	X	118390136	118658787	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.118390137_118658787del	(Likely) pathogenic	1 lab	86966431b7
21:47421285 COL6A1 G>A	21	47421285	47421285	G	A	COL6A1	c.1941G>A	NM_001848.3	NP_001839.2:p.(Arg647=)	NC_000021.8:g.47421285G>A	(Likely) benign	1 lab	8699e85642
X:7890077 PNPLA4 T>C	X	7890077	7890077	T	C	PNPLA4	c.243A>G	NM_004650.3	NP_004641.1:p.(Val81=)	NC_000023.10:g.7890077T>C	(Likely) benign	1 lab	869f414dbf
8:133975335 TG C>T	8	133975335	133975335	C	T	TG	c.5548+16C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133975335C>T	(Likely) benign	1 lab	869f7d843e
X:2275952 DHRSX Ref too long to show for this DEL>G	X	2275952	2375278	Ref too long to show for this DEL	G	DHRSX	c.110-31933_286+50833del	NM_145177.3	NP_660160.2:p.?	NC_000023.10:g.2275953_2375278del	VUS	1 lab	86a03ef370
2:189906144 COL5A2 T>A	2	189906144	189906144	T	A	COL5A2	c.3633+168A>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189906144T>A	(Likely) benign	1 lab	86a23becaa
2:170356064 BBS5 C>T	2	170356064	170356064	C	T	BBS5	c.750C>T	NM_152384.3	NP_689597.1:p.(Ile250=)	NC_000002.11:g.170356064C>T	(Likely) benign	1 lab	86a4db5384
19:3115065 GNA11 C>A	19	3115065	3115065	C	A	GNA11	c.600C>A	NM_002067.5	NP_002058.2:p.(Ile200=)	NC_000019.9:g.3115065C>A	(Likely) benign	1 lab	86a6418df8
19:11226874 LDLR A>C	19	11226874	11226874	A	C	LDLR	c.1691A>C	NM_000527.5	NP_000518.1:p.(Asn564Thr)	NC_000019.9:g.11226874A>C	(Likely) pathogenic	1 lab	86a6f33b0a
7:14562009 DGKB Ref too long to show for this DEL>G	7	14562009	14646285	Ref too long to show for this DEL	G	DGKB	c.1433+774_1771-44160del	NM_001350709.2	NP_001337638.1:p.?	NC_000007.13:g.14562010_14646285del	VUS	1 lab	86a803e002
1:237024397 MTR C>CTTTTTTTTTT	1	237024397	237024413	C	CTTTTTTTTTT	MTR	c.2044-21_2044-12dup	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237024404_237024413dup	(Likely) benign	1 lab	86a96189dc
6:76713612 IMPG1 T>C	6	76713612	76713612	T	C	IMPG1	c.1191A>G	NM_001563.4	NP_001554.2:p.(Thr397=)	NC_000006.11:g.76713612T>C	(Likely) benign	1 lab	86a990223b
20:57607288 ATP5F1E G>C	20	57607288	57607288	G	C	ATP5F1E	c.19C>G	NM_006886.4	NP_008817.1:p.(Gln7Glu)	NC_000020.10:g.57607288G>C	VUS	1 lab	86ac3e69c3
20:5282878 PROKR2 G>A	20	5282878	5282878	G	A	PROKR2	c.963C>T	NM_144773.4	NP_658986.1:p.(Ile321=)	NC_000020.10:g.5282878G>A	(Likely) benign	1 lab	86ad03ad89
5:178555097 ADAMTS2 C>T	5	178555097	178555097	C	T	ADAMTS2	c.2480G>A	NM_014244.5	NP_055059.2:p.(Arg827Gln)	NC_000005.9:g.178555097C>T	(Likely) benign	1 lab	86ad264217
2:167149828 SCN9A G>C	2	167149828	167149828	G	C	SCN9A	c.1020C>G	NM_002977.3	NP_002968.1:p.(Gly340=)	NC_000002.11:g.167149828G>C	(Likely) benign	1 lab	86ad8de3ce
1:25893378 LDLRAP1 T>A	1	25893378	25893378	T	A	LDLRAP1	c.822T>A	NM_015627.3	NP_056442.2:p.(Thr274=)	NC_000001.10:g.25893378T>A	(Likely) benign	1 lab	86af39271a
6:7583927 DSP A>T	6	7583927	7583927	A	T	DSP	c.6432A>T	NM_004415.4	NP_004406.2:p.(Pro2144=)	NC_000006.11:g.7583927A>T	(Likely) benign	1 lab	86afcbd7fe
2:37334674 EIF2AK2 G>GAAAA	2	37334674	37334683	G	GAAAA	EIF2AK2	c.1480-8_1480-5dup	NM_002759.4	NP_002750.1:p.?	NC_000002.11:g.37334680_37334683dup	(Likely) benign	1 lab	86b53bf36f
3:16636093 DAZL TA>T	3	16636093	16636107	TA	T	DAZL	c.631-4del	NM_001190811.2	NP_001177740.1:p.?	NC_000003.11:g.16636107del	(Likely) benign	1 lab	86b5ba26f2
X:71791975 HDAC8 TA>T	X	71791975	71791988	TA	T	HDAC8	c.112-17del	NM_001166419.2	NP_001159891.1:p.?	NC_000023.10:g.71791988del	(Likely) benign	1 lab	86b5ba40ed
16:89986065 MC1R C>T	16	89986065	89986065	C	T	MC1R	c.399C>T	NM_002386.4	NP_002377.4:p.(Cys133=)	NC_000016.9:g.89986065C>T	(Likely) benign	1 lab	86ba7719c9
14:90442142 TDP1 G>A	14	90442142	90442142	G	A	TDP1	c.774G>A	NM_018319.4	NP_060789.2:p.(Ala258=)	NC_000014.8:g.90442142G>A	(Likely) benign	1 lab	86bac6f97a
7:28770298 CREB5 A>Alt too long to show for this DUP	7	28770298	28799782	A	Alt too long to show for this DUP	CREB5	c.702+6351_702+35833dup	NM_182898.4	NP_878901.2:p.?	NC_000007.13:g.28770300_28799782dup	VUS	1 lab	86bc2a244e
2:167137120 SCN1A-AS1 C>T	2	167137120	167137120	C	T	SCN1A-AS1	n.1029+3363C>T	NR_110260.1		NC_000002.11:g.167137120C>T	(Likely) benign	1 lab	86bfdd1f69
6:56497810 DST T>C	6	56497810	56497810	T	C	DST	c.3548A>G	NM_001144769.5	NP_001138241.1:p.(His1183Arg)	NC_000006.11:g.56497810T>C	VUS	1 lab	86c3a956b0
2:44073390 ABCG8 A>G	2	44073390	44073390	A	G	ABCG8	c.262A>G	NM_022437.3	NP_071882.1:p.(Ile88Val)	NC_000002.11:g.44073390A>G	VUS	1 lab	86c62805be
12:117964899 KSR2 T>C	12	117964899	117964899	T	C	KSR2	c.1828A>G	NM_173598.6	NP_775869.4:p.(Ile610Val)	NC_000012.11:g.117964899T>C	VUS	1 lab	86cde0db6a
9:107585016 ABCA1 G>C	9	107585016	107585016	G	C	ABCA1	c.2657-68C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585016G>C	(Likely) benign	1 lab	86d0785658
11:47370530 MYBPC3 T>C	11	47370530	47370530	T	C	MYBPC3	c.655-438A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370530T>C	(Likely) benign	1 lab	86d0b4d50b
13:32930610 BRCA2 G>T	13	32930610	32930610	G	T	BRCA2	c.7481G>T	NM_000059.4	NP_000050.3:p.(Arg2494Leu)	NC_000013.10:g.32930610G>T	VUS	1 lab	86d15ce6ab
12:125298907 SCARB1 G>A	12	125298907	125298907	G	A	SCARB1	c.471C>T	NM_001367981.1	NP_001354910.1:p.(Leu157=)	NC_000012.11:g.125298907G>A	(Likely) benign	1 lab	86d3d61ae1
15:73028217 BBS4 C>T	15	73028217	73028217	C	T	BBS4	c.1158C>T	NM_033028.5	NP_149017.2:p.(Gly386=)	NC_000015.9:g.73028217C>T	VUS	1 lab	86d4b58cf5
11:47355264 MYBPC3 G>A	11	47355264	47355264	G	A	MYBPC3	c.3034C>T	NM_000256.3	NP_000247.2:p.(Gln1012Ter)	NC_000011.9:g.47355264G>A	(Likely) pathogenic	1 lab	86d5516925
11:27695893 BDNF T>C	11	27695893	27695893	T	C	BDNF	c.-58-4A>G	NM_001143810.2	NP_001137282.1:p.?	NC_000011.9:g.27695893T>C	(Likely) benign	1 lab	86d90ed0c4
11:118344210 KMT2A C>T	11	118344210	118344210	C	T	KMT2A	c.2336C>T	NM_001197104.2	NP_001184033.1:p.(Ser779Leu)	NC_000011.9:g.118344210C>T	VUS	1 lab	86dece1de4
20:49508868 ADNP AC>A	20	49508868	49508870	AC	A	ADNP	c.2382del	NM_001282531.3	NP_001269460.1:p.(Trp794CysfsTer35)	NC_000020.10:g.49508870del	(Likely) pathogenic	1 lab	86dfb7d81d
19:11238679 LDLR T>G	19	11238679	11238679	T	G	LDLR	c.2312-5T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238679T>G	(Likely) benign	1 lab	86e28b3959
9:130259578 LRSAM1 T>G	9	130259578	130259578	T	G	LRSAM1	c.1877T>G	NM_138361.5	NP_612370.3:p.(Val626Gly)	NC_000009.11:g.130259578T>G	VUS	1 lab	86ea44bd35
1:186908138 PLA2G4A AG>A	1	186908138	186908140	AG	A	PLA2G4A	c.696del	NM_024420.3	NP_077734.2:p.(Trp232CysfsTer24)	NC_000001.10:g.186908140del	(Likely) pathogenic	1 lab	86ed0637a1
19:40903448 PRX G>A	19	40903448	40903448	G	A	PRX	c.811C>T	NM_181882.3	NP_870998.2:p.(Pro271Ser)	NC_000019.9:g.40903448G>A	VUS	1 lab	86f01e37d4
4:41747989 PHOX2B AGCTGCCGCCGCTGCC>A	4	41747989	41748015	AGCTGCCGCCGCTGCC	A	PHOX2B	c.765_779del	NM_003924.4	NP_003915.2:p.(Ala256_Ala260del)	NC_000004.11:g.41748001_41748015del	(Likely) benign	1 lab	86f229ac03
6:32489928 HLA-DRB5 A>G	6	32489928	32489928	A	G	HLA-DRB5	c.124T>C	NM_002125.4	NP_002116.2:p.(Tyr42His)	NC_000006.11:g.32489928A>G	(Likely) benign	1 lab	86f3782008
11:1775250 CTSD C>T	11	1775250	1775250	C	T	CTSD	c.946G>A	NM_001909.5	NP_001900.1:p.(Gly316Arg)	NC_000011.9:g.1775250C>T	VUS	1 lab	86f50584c2
2:232156152 MISSING T>Alt too long to show for this DUP	2	232156152	232251375	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.232156153_232251375dup	VUS	1 lab	86f5caf610
19:11221356 LDLR CG>C	19	11221356	11221358	CG	C	LDLR	c.971del	NM_000527.5	NP_000518.1:p.(Gly324AlafsTer46)	NC_000019.9:g.11221358del	(Likely) pathogenic	1 lab	86f859dbcb
12:22040793 ABCC9 A>G	12	22040793	22040793	A	G	ABCC9	c.1878T>C	NM_005691.4	NP_005682.2:p.(Leu626=)	NC_000012.11:g.22040793A>G	(Likely) benign	1 lab	86f95a1817
2:166237229 SCN2A A>C	2	166237229	166237229	A	C	SCN2A	c.4436A>C	NM_021007.3	NP_066287.2:p.(Gln1479Pro)	NC_000002.11:g.166237229A>C	(Likely) pathogenic	1 lab	86fb6849e7
9:35105791 MISSING Ref too long to show for this DEL>T	9	35105791	35125394	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.35105792_35125394del	VUS	1 lab	86fd09bba1
16:86544210 FOXF1 ACGG>A	16	86544210	86544234	ACGG	A	FOXF1	c.57_59del	NM_001451.3	NP_001442.2:p.(Gly23del)	NC_000016.9:g.86544232_86544234del	(Likely) benign	1 lab	86fd3e89bc
11:45932431 PEX16 G>A	11	45932431	45932431	G	A	PEX16	c.952+18C>T	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45932431G>A	(Likely) benign	1 lab	87004718fa
19:11241945 LDLR A>G	19	11241945	11241945	A	G	LDLR	c.2548-12A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241945A>G	(Likely) benign	1 lab	8700a381bc
3:38592461 SCN5A A>G	3	38592461	38592461	A	G	SCN5A	c.5402T>C	NM_198056.3	NP_932173.1:p.(Phe1801Ser)	NC_000003.11:g.38592461A>G	VUS	1 lab	870418d584
3:47163817 SETD2 T>C	3	47163817	47163817	T	C	SETD2	c.2309A>G	NM_014159.7	NP_054878.5:p.(Tyr770Cys)	NC_000003.11:g.47163817T>C	VUS	1 lab	8706bcccfb
12:125292360 SCARB1 C>A	12	125292360	125292360	C	A	SCARB1	c.956G>T	NM_001367981.1	NP_001354910.1:p.(Gly319Val)	NC_000012.11:g.125292360C>A	VUS	1 lab	87088734ec
2:241728638 KIF1A G>A	2	241728638	241728638	G	A	KIF1A	c.183+15C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241728638G>A	(Likely) benign	1 lab	87096232f4
18:58039246 MC4R C>A	18	58039246	58039246	C	A	MC4R	c.337G>T	NM_005912.3	NP_005903.2:p.(Asp113Tyr)	NC_000018.9:g.58039246C>A	VUS	1 lab	8709775e11
8:19796670 LPL G>T	8	19796670	19796670	G	T	LPL				NC_000008.10:g.19796670G>T	VUS	1 lab	870bbdb2e5
2:179576948 TTN T>C	2	179576948	179576948	T	C	TTN	c.27609A>G	NM_001267550.2	NP_001254479.2:p.(Glu9203=)	NC_000002.11:g.179576948T>C	(Likely) benign	1 lab	870d649128
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATAT	(Likely) benign	1 lab	870de1ba86
19:11227663 LDLR G>T	19	11227663	11227663	G	T	LDLR	c.1834G>T	NM_000527.5	NP_000518.1:p.(Ala612Ser)	NC_000019.9:g.11227663G>T	VUS	1 lab	870fa4abe6
X:70442510 GJB1 C>T	X	70442510	70442510	C	T	GJB1	c.-16-1032C>T	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442510C>T	(Likely) benign	1 lab	8711dcefcf
11:47357777 MYBPC3 G>A	11	47357777	47357777	G	A	MYBPC3	c.2603-215C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357777G>A	VUS	1 lab	8712dbd26c
1:3329152 PRDM16 C>A	1	3329152	3329152	C	A	PRDM16	c.2391C>A	NM_022114.4	NP_071397.3:p.(Ser797=)	NC_000001.10:g.3329152C>A	VUS	1 lab	87135f6e9c
5:178634476 ADAMTS2 T>C	5	178634476	178634476	T	C	ADAMTS2	c.891+38A>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634476T>C	(Likely) benign	1 lab	8713d28321
2:21265302 APOB A>G	2	21265302	21265302	A	G	APOB	c.168T>C	NM_000384.3	NP_000375.3:p.(Tyr56=)	NC_000002.11:g.21265302A>G	(Likely) benign	1 lab	871540bceb
15:58834807 LIPC C>T	15	58834807	58834807	C	T	LIPC	c.531C>T	NM_000236.3	NP_000227.2:p.(Ala177=)	NC_000015.9:g.58834807C>T	(Likely) benign	1 lab	87160cdf1e
7:100414856 EPHB4 C>T	7	100414856	100414856	C	T	EPHB4	c.1546G>A	NM_004444.5	NP_004435.3:p.(Gly516Arg)	NC_000007.13:g.100414856C>T	VUS	1 lab	871879d30f
2:179395190 TTN C>T	2	179395190	179395190	C	T	TTN	c.106152G>A	NM_001267550.2	NP_001254479.2:p.(Glu35384=)	NC_000002.11:g.179395190C>T	(Likely) benign	1 lab	871a0880ad
2:44059100 ABCG5 A>G	2	44059100	44059100	A	G	ABCG5	c.388T>C	NM_022436.3	NP_071881.1:p.(Ser130Pro)	NC_000002.11:g.44059100A>G	VUS	1 lab	871a3645ab
9:79959095 VPS13A T>C	9	79959095	79959095	T	C	VPS13A	c.7053T>C	NM_033305.3	NP_150648.2:p.(Ala2351=)	NC_000009.11:g.79959095T>C	(Likely) benign	1 lab	871e0b3175
16:29824802 PRRT2 GACCCCCGGCCAGATTCCCAGCCT>G	16	29824802	29824831	GACCCCCGGCCAGATTCCCAGCCT	G	PRRT2	c.434_456del	NM_145239.3	NP_660282.2:p.(Arg145GlnfsTer17)	NC_000016.9:g.29824809_29824831del	(Likely) pathogenic	1 lab	8721c82b68
7:102240301 RASA4 A>T	7	102240301	102240301	A	T	RASA4	c.737+6T>A	NM_006989.6	NP_008920.5:p.?	NC_000007.13:g.102240301A>T	(Likely) benign	1 lab	87234e6fd3
17:56439937 RNF43 G>A	17	56439937	56439937	G	A	RNF43	c.655C>T	NM_017763.6	NP_060233.3:p.(Arg219Cys)	NC_000017.10:g.56439937G>A	VUS	1 lab	87245262a9
X:119581723 LAMP2 C>A	X	119581723	119581723	C	A	LAMP2	c.714G>T	NM_002294.3	NP_002285.1:p.(Gly238=)	NC_000023.10:g.119581723C>A	(Likely) benign	1 lab	8727906c25
16:1004484 LMF1 G>A	16	1004484	1004484	G	A	LMF1	c.376C>T	NM_022773.4	NP_073610.2:p.(Leu126=)	NC_000016.9:g.1004484G>A	(Likely) benign	1 lab	8729978534
1:39799454 MACF1 C>A	1	39799454	39799454	C	A	MACF1	c.4629+6429C>A	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39799454C>A	(Likely) benign	1 lab	872b4b0670
8:19819213 LPL CA>C	8	19819213	19819224	CA	C	LPL	c.1323-402del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819224del	(Likely) benign	1 lab	8730188cd0
7:42187806 GLI3 G>A	7	42187806	42187806	G	A	GLI3	c.367+19C>T	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42187806G>A	(Likely) benign	1 lab	8730e7caaf
11:47435198 SLC39A13 C>T	11	47435198	47435198	C	T	SLC39A13	c.696C>T	NM_001128225.3	NP_001121697.2:p.(His232=)	NC_000011.9:g.47435198C>T	(Likely) benign	1 lab	8731db81b1
22:50901320 SBF1 A>T	22	50901320	50901320	A	T	SBF1	c.1947T>A	NM_002972.4	NP_002963.2:p.(Pro649=)	NC_000022.10:g.50901320A>T	(Likely) benign	1 lab	87334331ed
18:47113194 LIPG T>C	18	47113194	47113194	T	C	LIPG	c.1455T>C	NM_006033.4	NP_006024.1:p.(Asp485=)	NC_000018.9:g.47113194T>C	(Likely) benign	1 lab	8733988d6b
17:48437445 XYLT2 C>T	17	48437445	48437445	C	T	XYLT2	c.2391C>T	NM_022167.4	NP_071450.2:p.(Ala797=)	NC_000017.10:g.48437445C>T	(Likely) benign	1 lab	873416742c
1:211832061 NEK2 C>CAAAAAAAAAAAAAAAAAAA	1	211832061	211832090	C	CAAAAAAAAAAAAAAAAAAA	NEK2	c.1112-26_1112-8dup	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832072_211832090dup	(Likely) benign	1 lab	8736052e48
12:5154463 KCNA5 G>A	12	5154463	5154463	G	A	KCNA5	c.1150G>A	NM_002234.4	NP_002225.2:p.(Gly384Arg)	NC_000012.11:g.5154463G>A	(Likely) benign	1 lab	8737fb4c30
17:48263718 COL1A1 C>T	17	48263718	48263718	C	T	COL1A1	c.3965G>A	NM_000088.4	NP_000079.2:p.(Arg1322Lys)	NC_000017.10:g.48263718C>T	(Likely) benign	1 lab	87395d01c9
9:137622488 COL5A1 G>A	9	137622488	137622488	G	A	COL5A1	c.1164+167G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137622488G>A	(Likely) benign	1 lab	873a55486c
18:34182713 FHOD3 A>G	18	34182713	34182713	A	G	FHOD3	c.795A>G	NM_001281740.3	NP_001268669.1:p.(Ala265=)	NC_000018.9:g.34182713A>G	(Likely) benign	1 lab	873b6fe39c
16:56997025 CETP T>G	16	56997025	56997025	T	G	CETP	c.222T>G	NM_000078.3	NP_000069.2:p.(Tyr74Ter)	NC_000016.9:g.56997025T>G	VUS	1 lab	873d94af47
8:143560733 ADGRB1 G>A	8	143560733	143560733	G	A	ADGRB1	c.1611G>A	NM_001702.3	NP_001693.2:p.(Thr537=)	NC_000008.10:g.143560733G>A	(Likely) benign	1 lab	873e1f473e
3:119378872 POPDC2 G>A	3	119378872	119378872	G	A	POPDC2	c.399C>T	NM_001369919.2	NP_001356848.1:p.(Cys133=)	NC_000003.11:g.119378872G>A	(Likely) benign	1 lab	873ed5e6f1
20:32000364 SNTA1 C>G	20	32000364	32000364	C	G	SNTA1	c.909+17G>C	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.32000364C>G	(Likely) benign	1 lab	8740bdc1ef
14:23886790 MYH7 G>A	14	23886790	23886790	G	A	MYH7	c.4275C>T	NM_000257.4	NP_000248.2:p.(Ile1425=)	NC_000014.8:g.23886790G>A	(Likely) benign	1 lab	8743b0e060
7:150649717 KCNH2 C>T	7	150649717	150649717	C	T	KCNH2	c.1353G>A	NM_000238.4	NP_000229.1:p.(Pro451=)	NC_000007.13:g.150649717C>T	(Likely) benign	1 lab	8744887435
17:15142930 PMP22 T>C	17	15142930	15142930	T	C	PMP22	c.179-2A>G	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15142930T>C	(Likely) pathogenic	1 lab	8748be6e21
1:156849828 NTRK1 C>T	1	156849828	156849828	C	T	NTRK1	c.2084C>T	NM_002529.3	NP_002520.2:p.(Pro695Leu)	NC_000001.10:g.156849828C>T	(Likely) pathogenic	1 lab	8748fd2e67
1:25891959 LDLRAP1 G>A	1	25891959	25891959	G	A	LDLRAP1	c.782+261G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891959G>A	(Likely) benign	1 lab	87492144a2
14:105173867 INF2 A>C	14	105173867	105173867	A	C	INF2	c.1263A>C	NM_001031714.4	NP_001026884.3:p.(Pro421=)	NC_000014.8:g.105173867A>C	(Likely) benign	1 lab	874a90b537
12:32996054 PKP2 C>G	12	32996054	32996054	C	G	PKP2	c.1379-1915G>C	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32996054C>G	(Likely) benign	1 lab	874abcce88
1:10357206 KIF1B AT>A	1	10357206	10357223	AT	A	KIF1B	c.1905-9del	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10357223del	(Likely) benign	1 lab	8750fd0e10
2:179404901 TTN G>A	2	179404901	179404901	G	A	TTN	c.97992C>T	NM_001267550.2	NP_001254479.2:p.(His32664=)	NC_000002.11:g.179404901G>A	(Likely) benign	1 lab	8751a49d2b
2:69409029 ANTXR1 C>A	2	69409029	69409029	C	A	ANTXR1	c.1185+16C>A	NM_032208.3	NP_115584.1:p.?	NC_000002.11:g.69409029C>A	(Likely) benign	1 lab	87552bac5f
1:100928418 CDC14A C>G	1	100928418	100928418	C	G	CDC14A	c.819C>G	NM_003672.4	NP_003663.2:p.(Ala273=)	NC_000001.10:g.100928418C>G	(Likely) benign	1 lab	8756452181
19:7620487 PNPLA6 C>T	19	7620487	7620487	C	T	PNPLA6	c.2967-6C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7620487C>T	(Likely) benign	1 lab	8757f66c1d
18:47116675 LIPG A>G	18	47116675	47116675	A	G	LIPG	c.1482-196A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116675A>G	(Likely) benign	1 lab	875c3fdeb8
16:46771779 MYLK3 G>A	16	46771779	46771779	G	A	MYLK3	c.845C>T	NM_182493.3	NP_872299.2:p.(Pro282Leu)	NC_000016.9:g.46771779G>A	VUS	1 lab	875e723950
12:69980571 CCT2 A>G	12	69980571	69980571	A	G	CCT2	c.117A>G	NM_006431.3	NP_006422.1:p.(Val39=)	NC_000012.11:g.69980571A>G	(Likely) benign	1 lab	875e75f326
9:107561675 ABCA1 T>TCACACA	9	107561675	107561717	T	TCACACA	ABCA1	c.4943+419_4943+424dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561712_107561717dup	(Likely) benign	1 lab	875f27e364
2:179409134 TTN A>C	2	179409134	179409134	A	C	TTN	c.95822T>G	NM_001267550.2	NP_001254479.2:p.(Ile31941Ser)	NC_000002.11:g.179409134A>C	VUS	1 lab	8766cf3d12
2:44104201 ABCG8 A>G	2	44104201	44104201	A	G	ABCG8	c.1757-499A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104201A>G	(Likely) benign	1 lab	876c1203d3
1:55521195 PCSK9 C>T	1	55521195	55521195	C	T	PCSK9	c.800-471C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521195C>T	(Likely) benign	1 lab	876cf547ad
3:147270657 MISSING Ref too long to show for this DEL>C	3	147270657	148470601	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.147270658_148470601del	VUS	1 lab	876e28b85b
15:48767911 FBN1 G>A	15	48767911	48767911	G	A	FBN1	c.3965-1064C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48767911G>A	VUS	1 lab	87732b8f94
6:89926958 GABRR1 C>A	6	89926958	89926958	C	A	GABRR1	c.84G>T	NM_002042.5	NP_002033.2:p.(Trp28Cys)	NC_000006.11:g.89926958C>A	VUS	1 lab	87732da6d1
11:47361703 MYBPC3 CAG>C	11	47361703	47361706	CAG	C	MYBPC3	c.1928-364_1928-363del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361705_47361706del	(Likely) benign	1 lab	87741668aa
1:1718851 GNB1 G>A	1	1718851	1718851	G	A	GNB1	c.942C>T	NM_002074.5	NP_002065.1:p.(Arg314=)	NC_000001.10:g.1718851G>A	(Likely) benign	1 lab	87742aefa0
8:144296877 GPIHBP1 C>A	8	144296877	144296877	C	A	GPIHBP1	c.182-11C>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296877C>A	(Likely) benign	1 lab	877935dfac
2:48033425 MSH6 A>G	2	48033425	48033425	A	G	MSH6	c.3729A>G	NM_000179.3	NP_000170.1:p.(Thr1243=)	NC_000002.11:g.48033425A>G	(Likely) benign	1 lab	877a56711d
19:11231164 LDLR G>A	19	11231164	11231164	G	A	LDLR	c.2106G>A	NM_000527.5	NP_000518.1:p.(Met702Ile)	NC_000019.9:g.11231164G>A	VUS	1 lab	877a6a2080
16:28878636 SH2B1 C>T	16	28878636	28878636	C	T	SH2B1	c.940-16C>T	NM_015503.3	NP_056318.2:p.?	NC_000016.9:g.28878636C>T	(Likely) benign	1 lab	877af011dd
15:58834144 LIPC C>T	15	58834144	58834144	C	T	LIPC	c.434C>T	NM_000236.3	NP_000227.2:p.(Ala145Val)	NC_000015.9:g.58834144C>T	VUS	1 lab	877cdc36e1
19:11224428 LDLR C>A	19	11224428	11224428	C	A	LDLR	c.1576C>A	NM_000527.5	NP_000518.1:p.(Pro526Thr)	NC_000019.9:g.11224428C>A	VUS	1 lab	87816eed2e
2:24888621 NCOA1 G>A	2	24888621	24888621	G	A	NCOA1	c.93G>A	NM_001362950.1	NP_001349879.1:p.(Thr31=)	NC_000002.11:g.24888621G>A	(Likely) benign	1 lab	878366a441
8:133909916 TG C>T	8	133909916	133909916	C	T	TG	c.3024C>T	NM_003235.5	NP_003226.4:p.(Arg1008=)	NC_000008.10:g.133909916C>T	(Likely) benign	1 lab	8784320ad6
3:178943691 PIK3CA G>A	3	178943691	178943691	G	A	PIK3CA	c.2417-59G>A	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178943691G>A	(Likely) benign	1 lab	8784368dc8
3:154832932 MME G>A	3	154832932	154832932	G	A	MME	c.346G>A	NM_007289.4	NP_009220.2:p.(Val116Ile)	NC_000003.11:g.154832932G>A	VUS	1 lab	8789eb8fb3
2:21231646 APOB C>A	2	21231646	21231646	C	A	APOB	c.8094G>T	NM_000384.3	NP_000375.3:p.(Val2698=)	NC_000002.11:g.21231646C>A	(Likely) benign	1 lab	878a72f9ce
17:65341877 PSMD12 C>A	17	65341877	65341877	C	A	PSMD12	c.892G>T	NM_002816.5	NP_002807.1:p.(Glu298Ter)	NC_000017.10:g.65341877C>A	(Likely) pathogenic	1 lab	878a8e9caf
X:70443618 GJB1 G>A	X	70443618	70443618	G	A	GJB1	c.61G>A	NM_000166.6	NP_000157.1:p.(Gly21Ser)	NC_000023.10:g.70443618G>A	(Likely) pathogenic	1 lab	878a9bbfc3
14:94845939 SERPINA1 G>A	14	94845939	94845939	G	A	SERPINA1	c.927C>T	NM_001127701.2	NP_001121173.1:p.(Ser309=)	NC_000014.8:g.94845939G>A	(Likely) benign	1 lab	878b12e382
4:100503095 MTTP G>A	4	100503095	100503095	G	A	MTTP	c.95G>A	NM_000253.4	NP_000244.2:p.(Arg32Gln)	NC_000004.11:g.100503095G>A	(Likely) benign	1 lab	878d3cedec
2:179404786 TTN A>T	2	179404786	179404786	A	T	TTN	c.98098+9T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179404786A>T	(Likely) benign	1 lab	878f10d2ac
X:123501370 STAG2 Ref too long to show for this DEL>T	X	123501370	123509679	Ref too long to show for this DEL	T	STAG2				NC_000023.10:g.123501371_123509679del	VUS	1 lab	879578473a
10:32323865 KIF5B T>A	10	32323865	32323865	T	A	KIF5B	c.963-99A>T	NM_004521.3	NP_004512.1:p.?	NC_000010.10:g.32323865T>A	(Likely) benign	1 lab	8797530616
6:37118372 MISSING Ref too long to show for this DEL>T	6	37118372	37144424	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.37118373_37144424del	VUS	1 lab	87985d2821
14:105174849 INF2 A>T	14	105174849	105174849	A	T	INF2	c.1812A>T	NM_022489.4	NP_071934.3:p.(Arg604=)	NC_000014.8:g.105174849A>T	(Likely) benign	1 lab	87988885b0
20:42744539 JPH2 G>A	20	42744539	42744539	G	A	JPH2	c.1776C>T	NM_020433.5	NP_065166.2:p.(Ser592=)	NC_000020.10:g.42744539G>A	(Likely) benign	1 lab	879b832560
22:24718188 SPECC1L C>A	22	24718188	24718188	C	A	SPECC1L	c.1240C>A	NM_015330.6	NP_056145.5:p.(Leu414Ile)	NC_000022.10:g.24718188C>A	(Likely) pathogenic	1 lab	879e315e59
X:47074321 UBA1 T>G	X	47074321	47074321	T	G	UBA1	c.3170T>G	NM_003334.4	NP_003325.2:p.(Ile1057Ser)	NC_000023.10:g.47074321T>G	VUS	1 lab	879ee0bd2c
2:179514298 TTN T>C	2	179514298	179514298	T	C	TTN	c.39956A>G	NM_001267550.2	NP_001254479.2:p.(Glu13319Gly)	NC_000002.11:g.179514298T>C	VUS	1 lab	879f39ed3f
12:50745851 FAM186A C>A	12	50745851	50745851	C	A	FAM186A	c.4764G>T	NM_001145475.3	NP_001138947.1:p.(Gly1588=)	NC_000012.11:g.50745851C>A	(Likely) benign	1 lab	87a01123f3
8:59412606 CYP7A1 G>C	8	59412606	59412606	G	C	CYP7A1	c.52C>G	NM_000780.4	NP_000771.2:p.(Leu18Val)	NC_000008.10:g.59412606G>C	(Likely) benign	1 lab	87a22ff315
5:2751295 IRX2 CCGG>C	5	2751295	2751315	CCGG	C	IRX2	c.230_232del	NM_033267.5	NP_150366.1:p.(Ala77del)	NC_000005.9:g.2751313_2751315del	(Likely) benign	1 lab	87a50e28f7
5:112174643 APC A>G	5	112174643	112174643	A	G	APC	c.3352A>G	NM_000038.6	NP_000029.2:p.(Asn1118Asp)	NC_000005.9:g.112174643A>G	(Likely) benign	1 lab	87a5526d90
9:137534358 COL5A1 C>G	9	137534358	137534358	C	G	COL5A1	c.109+216C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137534358C>G	(Likely) benign	1 lab	87a854da92
1:12018017 PLOD1 G>C	1	12018017	12018017	G	C	PLOD1	c.843+17G>C	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12018017G>C	(Likely) benign	1 lab	87abeb4798
2:21236327 APOB G>T	2	21236327	21236327	G	T	APOB	c.3921C>A	NM_000384.3	NP_000375.3:p.(Ser1307=)	NC_000002.11:g.21236327G>T	(Likely) benign	1 lab	87adeee3ef
12:1906663 CACNA2D4 C>T	12	1906663	1906663	C	T	CACNA2D4	c.3034G>A	NM_172364.5	NP_758952.4:p.(Asp1012Asn)	NC_000012.11:g.1906663C>T	(Likely) benign	1 lab	87ae28f85d
1:210856796 KCNH1 G>T	1	210856796	210856796	G	T	KCNH1	c.2797C>A	NM_172362.3	NP_758872.1:p.(Leu933Met)	NC_000001.10:g.210856796G>T	VUS	1 lab	87ae6fb0b5
11:68701934 IGHMBP2 G>A	11	68701934	68701934	G	A	IGHMBP2	c.1540G>A	NM_002180.3	NP_002171.2:p.(Glu514Lys)	NC_000011.9:g.68701934G>A	(Likely) pathogenic	1 lab	87af05e5f5
2:1520748 TPO G>A	2	1520748	1520748	G	A	TPO	c.2612G>A	NM_000547.6	NP_000538.3:p.(Cys871Tyr)	NC_000002.11:g.1520748G>A	VUS	1 lab	87b0a55e3f
3:2624874 CNTN4 Ref too long to show for this DEL>C	3	2624874	2768149	Ref too long to show for this DEL	C	CNTN4	c.55+11633_56-9750del	NM_175607.3	NP_783200.1:p.?	NC_000003.11:g.2624875_2768149del	(Likely) pathogenic	1 lab	87b16e1a75
14:64529597 SYNE2 G>A	14	64529597	64529597	G	A	SYNE2	c.10196G>A	NM_182914.3	NP_878918.2:p.(Arg3399His)	NC_000014.8:g.64529597G>A	(Likely) benign	1 lab	87b1d83910
11:103006364 DYNC2H1 G>T	11	103006364	103006364	G	T	DYNC2H1	c.2345+1G>T	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103006364G>T	(Likely) pathogenic	1 lab	87b3aa61d6
12:77438436 E2F7 T>C	12	77438436	77438436	T	C	E2F7	c.969A>G	NM_203394.3	NP_976328.2:p.(Pro323=)	NC_000012.11:g.77438436T>C	(Likely) benign	1 lab	87b5361582
12:48380617 COL2A1 C>T	12	48380617	48380617	C	T	COL2A1	c.1419+1G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48380617C>T	(Likely) pathogenic	1 lab	87b555c3af
15:84909025 GOLGA6L4 C>T	15	84909025	84909025	C	T	GOLGA6L4	c.919C>T	NM_001267536.3	NP_001254465.2:p.(Arg307Cys)	NC_000015.9:g.84909025C>T	(Likely) benign	1 lab	87b5c2bd43
4:120456780 PDE5A Ref too long to show for this DEL>T	4	120456780	120486245	Ref too long to show for this DEL	T	PDE5A	c.993+231_1632+3334del	NM_001083.4	NP_001074.2:p.?	NC_000004.11:g.120456781_120486245del	VUS	1 lab	87b743eb50
17:56801462 RAD51C G>A	17	56801462	56801462	G	A	RAD51C	c.965+1G>A	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56801462G>A	(Likely) pathogenic	1 lab	87ba409d05
7:80123536 MISSING Ref too long to show for this DEL>A	7	80123536	80292454	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.80123537_80292454del	VUS	1 lab	87c014f265
16:56928811 MISSING G>Alt too long to show for this DUP	16	56928811	57045748	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.56928813_57045748dup	VUS	1 lab	87c2a555ba
1:54168363 MISSING C>Alt too long to show for this DUP	1	54168363	54392010	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.54168364_54392010dup	VUS	1 lab	87c359a1c1
3:100963496 IMPG2 T>A	3	100963496	100963496	T	A	IMPG2	c.1679A>T	NM_016247.4	NP_057331.2:p.(Tyr560Phe)	NC_000003.11:g.100963496T>A	(Likely) benign	1 lab	87c641fb97
17:19568341 ALDH3A2 T>G	17	19568341	19568341	T	G	ALDH3A2	c.1188T>G	NM_000382.3	NP_000373.1:p.(Ser396=)	NC_000017.10:g.19568341T>G	(Likely) benign	1 lab	87c663b951
11:86662853 FZD4 G>A	11	86662853	86662853	G	A	FZD4	c.945C>T	NM_012193.4	NP_036325.2:p.(Ala315=)	NC_000011.9:g.86662853G>A	(Likely) benign	1 lab	87c9f31f4d
11:68174525 LRP5 T>C	11	68174525	68174525	T	C	LRP5	c.2091+244T>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68174525T>C	(Likely) benign	1 lab	87ce2e9ac1
2:179404641 TTN C>T	2	179404641	179404641	C	T	TTN	c.98151G>A	NM_001267550.2	NP_001254479.2:p.(Arg32717=)	NC_000002.11:g.179404641C>T	(Likely) benign	1 lab	87cff9ba04
1:43394880 SLC2A1 CCGACA>C	1	43394880	43394890	CCGACA	C	SLC2A1	c.968_972del	NM_006516.4	NP_006507.2:p.(Val323AlafsTer56)	NC_000001.10:g.43394886_43394890del	(Likely) pathogenic	1 lab	87d07a022d
2:176983679 HOXD10 T>C	2	176983679	176983679	T	C	HOXD10	c.746-3T>C	NM_002148.4	NP_002139.2:p.?	NC_000002.11:g.176983679T>C	(Likely) benign	1 lab	87d28f4df0
14:92403522 FBLN5 G>T	14	92403522	92403522	G	T	FBLN5	c.148C>A	NM_001384160.1	NP_001371089.1:p.(Pro50Thr)	NC_000014.8:g.92403522G>T	VUS	1 lab	87d911a5a2
2:179408316 TTN A>G	2	179408316	179408316	A	G	TTN	c.96384T>C	NM_001267550.2	NP_001254479.2:p.(Ile32128=)	NC_000002.11:g.179408316A>G	(Likely) benign	1 lab	87dd86efb7
9:107568560 ABCA1 C>G	9	107568560	107568560	C	G	ABCA1	c.4426G>C	NM_005502.4	NP_005493.2:p.(Val1476Leu)	NC_000009.11:g.107568560C>G	VUS	1 lab	87df19eb40
9:137734067 COL5A1 T>A	9	137734067	137734067	T	A	COL5A1	c.5435T>A	NM_000093.5	NP_000084.3:p.(Ile1812Asn)	NC_000009.11:g.137734067T>A	VUS	1 lab	87e118c8b3
8:19819669 LPL G>A	8	19819669	19819669	G	A	LPL	c.1366G>A	NM_000237.3	NP_000228.1:p.(Gly456Arg)	NC_000008.10:g.19819669G>A	VUS	1 lab	87e39ddbe2
21:41969021 DSCAM T>Alt too long to show for this DUP	21	41969021	42168522	T	Alt too long to show for this DUP	DSCAM	c.43+50023_508+95714dup	NM_001389.5	NP_001380.2:p.?	NC_000021.8:g.41969022_42168522dup	VUS	1 lab	87e64d6f08
15:55838563 PYGO1 C>T	15	55838563	55838563	C	T	PYGO1	c.918G>A	NM_001367806.1	NP_001354735.1:p.(Lys306=)	NC_000015.9:g.55838563C>T	(Likely) benign	1 lab	87f2d06a82
8:117861253 RAD21 CT>C	8	117861253	117861254	CT	C	RAD21	c.1635del	NM_006265.3	NP_006256.1:p.(Gly547AlafsTer65)	NC_000008.10:g.117861254del	(Likely) pathogenic	1 lab	87f2e96004
1:11273522 MTOR C>G	1	11273522	11273522	C	G	MTOR	c.3219G>C	NM_004958.4	NP_004949.1:p.(Gln1073His)	NC_000001.10:g.11273522C>G	VUS	1 lab	87f540494a
5:36998748 NIPBL T>Alt too long to show for this DUP	5	36998748	37038712	T	Alt too long to show for this DUP	NIPBL	c.3305-1726_5980dup	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.36998749_37038712dup	VUS	1 lab	87f714d239
9:35703336 TLN1 A>C	9	35703336	35703336	A	C	TLN1	c.6474+221T>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35703336A>C	(Likely) benign	1 lab	87f9968782
3:38629059 SCN5A G>A	3	38629059	38629059	G	A	SCN5A	c.2268C>T	NM_198056.3	NP_932173.1:p.(Phe756=)	NC_000003.11:g.38629059G>A	(Likely) benign	1 lab	87fcbba642
8:144511953 MAFA ATGGTGG>A	8	144511953	144511983	ATGGTGG	A	MAFA	c.618_623del	NM_201589.4	NP_963883.2:p.(His207_His208del)	NC_000008.10:g.144511978_144511983del	(Likely) benign	1 lab	880407b1b1
2:189863504 COL3A1 T>C	2	189863504	189863504	T	C	COL3A1	c.2022+60T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863504T>C	(Likely) benign	1 lab	8804728fe5
8:19809695 LPL T>C	8	19809695	19809695	T	C	LPL	c.429+236T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809695T>C	(Likely) benign	1 lab	880517e556
1:38158647 CDCA8 C>T	1	38158647	38158647	C	T	CDCA8	c.165C>T	NM_001256875.2	NP_001243804.1:p.(Asn55=)	NC_000001.10:g.38158647C>T	(Likely) benign	1 lab	880577b444
6:7583112 DSP C>T	6	7583112	7583112	C	T	DSP	c.5617C>T	NM_004415.4	NP_004406.2:p.(Arg1873Cys)	NC_000006.11:g.7583112C>T	VUS	1 lab	880688db80
4:55976947 KDR T>TAA	4	55976947	55976960	T	TAA	KDR	c.977-14_977-13dup	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976959_55976960dup	(Likely) benign	1 lab	880e7af47b
2:220285013 DES G>A	2	220285013	220285013	G	A	DES	c.680G>A	NM_001927.4	NP_001918.3:p.(Arg227His)	NC_000002.11:g.220285013G>A	VUS	1 lab	880ec1d822
19:11224014 LDLR G>A	19	11224014	11224014	G	A	LDLR	c.1247G>A	NM_000527.5	NP_000518.1:p.(Arg416Gln)	NC_000019.9:g.11224014G>A	(Likely) pathogenic	1 lab	8811693d50
15:71549250 THSD4 A>G	15	71549250	71549250	A	G	THSD4	c.1015+196A>G	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71549250A>G	(Likely) benign	1 lab	8812975fcf
1:55518408 PCSK9 G>A	1	55518408	55518408	G	A	PCSK9	c.743G>A	NM_174936.4	NP_777596.2:p.(Arg248His)	NC_000001.10:g.55518408G>A	VUS	1 lab	88149237cf
6:123581745 TRDN G>T	6	123581745	123581745	G	T	TRDN	c.1831+12C>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581745G>T	(Likely) benign	1 lab	881b00d913
1:93129964 EVI5 Ref too long to show for this DEL>T	1	93129964	93199871	Ref too long to show for this DEL	T	EVI5	c.149+2085_1213-956del	NM_001350197.2	NP_001337126.1:p.?	NC_000001.10:g.93129966_93199871del	VUS	1 lab	881b9e343b
12:122246193 SETD1B C>T	12	122246193	122246193	C	T	SETD1B	c.624C>T	NM_001353345.2	NP_001340274.1:p.(Asp208=)	NC_000012.11:g.122246193C>T	(Likely) benign	1 lab	8821720039
2:220494110 SLC4A3 G>GC	2	220494110	220494117	G	GC	SLC4A3	c.469dup	NM_001326559.2	NP_001313488.2:p.(His157ProfsTer15)	NC_000002.11:g.220494117dup	VUS	1 lab	8824d8703e
10:69970067 MYPN C>T	10	69970067	69970067	C	T	MYPN	c.3818C>T	NM_032578.4	NP_115967.2:p.(Pro1273Leu)	NC_000010.10:g.69970067C>T	VUS	1 lab	8825086067
5:178772259 ADAMTS2 G>GGCAGCA	5	178772259	178772285	G	GGCAGCA	ADAMTS2	c.65_70dup	NM_014244.5	NP_055059.2:p.(Leu22_Leu23dup)	NC_000005.9:g.178772280_178772285dup	(Likely) benign	1 lab	8825f75ebb
2:179667004 TTN G>C	2	179667004	179667004	G	C	TTN	c.156C>G	NM_001267550.2	NP_001254479.2:p.(Pro52=)	NC_000002.11:g.179667004G>C	(Likely) benign	1 lab	88284142ec
15:75188506 MPI C>T	15	75188506	75188506	C	T	MPI	c.684C>T	NM_002435.3	NP_002426.1:p.(Asn228=)	NC_000015.9:g.75188506C>T	(Likely) benign	1 lab	8828548d5f
16:57003540 CETP C>T	16	57003540	57003540	C	T	CETP	c.386C>T	NM_000078.3	NP_000069.2:p.(Ser129Phe)	NC_000016.9:g.57003540C>T	VUS	1 lab	882a6a4de1
11:64695307 PPP2R5B A>C	11	64695307	64695307	A	C	PPP2R5B	c.430A>C	NM_006244.4	NP_006235.1:p.(Ser144Arg)	NC_000011.9:g.64695307A>C	VUS	1 lab	882b8dc53f
6:112461067 LAMA4 C>A	6	112461067	112461067	C	A	LAMA4	c.2976G>T	NM_002290.5	NP_002281.3:p.(Leu992=)	NC_000006.11:g.112461067C>A	(Likely) benign	1 lab	882c18992e
15:73659981 HCN4 C>G	15	73659981	73659981	C	G	HCN4	c.631G>C	NM_005477.3	NP_005468.1:p.(Ala211Pro)	NC_000015.9:g.73659981C>G	VUS	1 lab	882de2cbfd
20:3541328 ATRN G>A	20	3541328	3541328	G	A	ATRN	c.1223G>A	NM_139321.3	NP_647537.1:p.(Gly408Glu)	NC_000020.10:g.3541328G>A	VUS	1 lab	882edc2995
17:59886003 BRIP1 A>G	17	59886003	59886003	A	G	BRIP1	c.743T>C	NM_032043.3	NP_114432.2:p.(Phe248Ser)	NC_000017.10:g.59886003A>G	VUS	1 lab	882f9c2ac6
6:64726323 EYS A>Alt too long to show for this DUP	6	64726323	64779612	A	Alt too long to show for this DUP	EYS	c.6572-3228_6726-17248dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.64726324_64779612dup	VUS	1 lab	88314cd135
3:32127214 MISSING A>Alt too long to show for this DUP	3	32127214	32312548	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.32127216_32312548dup	VUS	1 lab	8833b2a48a
4:42137820 MISSING A>Alt too long to show for this DUP	4	42137820	42626790	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.42137823_42626790dup	VUS	1 lab	883ca9fa74
4:114276499 ANK2 C>T	4	114276499	114276499	C	T	ANK2	c.6725C>T	NM_001148.6	NP_001139.3:p.(Thr2242Met)	NC_000004.11:g.114276499C>T	VUS	1 lab	883f2f8605
12:50501810 GPD1 A>G	12	50501810	50501810	A	G	GPD1	c.850A>G	NM_005276.4	NP_005267.2:p.(Ile284Val)	NC_000012.11:g.50501810A>G	(Likely) benign	1 lab	883f51961c
2:241725931 KIF1A C>T	2	241725931	241725931	C	T	KIF1A	c.430-1G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241725931C>T	VUS	1 lab	88412f88fa
9:107620994 ABCA1 T>C	9	107620994	107620994	T	C	ABCA1	c.544-15A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620994T>C	(Likely) benign	1 lab	885735b9d5
7:128490885 FLNC G>A	7	128490885	128490885	G	A	FLNC	c.5427G>A	NM_001458.5	NP_001449.3:p.(Thr1809=)	NC_000007.13:g.128490885G>A	(Likely) benign	1 lab	88427894c7
21:44482402 CBS G>A	21	44482402	44482402	G	A	CBS	c.1039+19C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44482402G>A	(Likely) benign	1 lab	8847fbec19
2:71797828 DYSF G>A	2	71797828	71797828	G	A	DYSF	c.3131G>A	NM_003494.4	NP_003485.1:p.(Arg1044His)	NC_000002.11:g.71797828G>A	VUS	1 lab	8848123aff
16:57003376 CETP G>A	16	57003376	57003376	G	A	CETP	c.312G>A	NM_000078.3	NP_000069.2:p.(Gln104=)	NC_000016.9:g.57003376G>A	(Likely) benign	1 lab	88492cb193
1:87045902 CLCA4 ACCTACT>A	1	87045902	87045929	ACCTACT	A	CLCA4	c.2656_2661del	NM_012128.4	NP_036260.2:p.(Thr886_Pro887del)	NC_000001.10:g.87045924_87045929del	(Likely) benign	1 lab	884c2a173c
15:58840647 LIPC C>T	15	58840647	58840647	C	T	LIPC	c.927C>T	NM_000236.3	NP_000227.2:p.(Ser309=)	NC_000015.9:g.58840647C>T	(Likely) benign	1 lab	884d4c560d
18:47093817 LIPG C>T	18	47093817	47093817	C	T	LIPG	c.285C>T	NM_006033.4	NP_006024.1:p.(Ser95=)	NC_000018.9:g.47093817C>T	(Likely) benign	1 lab	884e33e643
2:15601905 NBAS C>G	2	15601905	15601905	C	G	NBAS	c.2108G>C	NM_015909.4	NP_056993.2:p.(Gly703Ala)	NC_000002.11:g.15601905C>G	(Likely) benign	1 lab	884ea8c8bd
15:63353455 TPM1 A>G	15	63353455	63353455	A	G	TPM1	c.622A>G	NM_001018006.2	NP_001018006.1:p.(Met208Val)	NC_000015.9:g.63353455A>G	VUS	1 lab	884fe67552
12:124323125 DNAH10 C>T	12	124323125	124323125	C	T	DNAH10	c.4671C>T	NM_207437.3	NP_997320.2:p.(Tyr1557=)	NC_000012.11:g.124323125C>T	(Likely) benign	1 lab	8850e41ca8
3:38739833 SCN10A C>T	3	38739833	38739833	C	T	SCN10A	c.4878G>A	NM_006514.4	NP_006505.4:p.(Met1626Ile)	NC_000003.11:g.38739833C>T	VUS	1 lab	8852c88cdf
14:76427107 TGFB3 C>G	14	76427107	76427107	C	G	TGFB3	c.1080+159G>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76427107C>G	(Likely) benign	1 lab	885604c4c7
6:7562678 DSP C>G	6	7562678	7562678	C	G	DSP	c.598-207C>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7562678C>G	(Likely) benign	1 lab	885736b725
2:179614801 TTN G>A	2	179614801	179614801	G	A	TTN	c.12326C>T	NM_133379.5	NP_596870.2:p.(Ala4109Val)	NC_000002.11:g.179614801G>A	(Likely) benign	1 lab	885c30080c
11:125859525 CDON C>A	11	125859525	125859525	C	A	CDON	c.2773+7G>T	NM_001243597.2	NP_001230526.1:p.?	NC_000011.9:g.125859525C>A	(Likely) benign	1 lab	885d42fd4d
12:118105333 KSR2 C>T	12	118105333	118105333	C	T	KSR2	c.1117G>A	NM_173598.6	NP_775869.4:p.(Ala373Thr)	NC_000012.11:g.118105333C>T	VUS	1 lab	885d5d11ce
1:116932345 ATP1A1 T>C	1	116932345	116932345	T	C	ATP1A1	c.1023+16T>C	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116932345T>C	(Likely) benign	1 lab	885ec9243d
17:42427639 GRN C>G	17	42427639	42427639	C	G	GRN	c.393C>G	NM_002087.4	NP_002078.1:p.(Phe131Leu)	NC_000017.10:g.42427639C>G	(Likely) benign	1 lab	8860085cf3
22:38524381 PLA2G6 A>G	22	38524381	38524381	A	G	PLA2G6	c.709T>C	NM_001349867.2	NP_001336796.1:p.(Phe237Leu)	NC_000022.10:g.38524381A>G	VUS	1 lab	88634213e6
11:46725887 ZNF408 C>A	11	46725887	46725887	C	A	ZNF408	c.653-16C>A	NM_024741.3	NP_079017.1:p.?	NC_000011.9:g.46725887C>A	(Likely) benign	1 lab	890e3d6570
6:112522803 LAMA4 G>C	6	112522803	112522803	G	C	LAMA4	c.503+6C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112522803G>C	(Likely) benign	1 lab	88673cd90f
22:50899097 SBF1 G>A	22	50899097	50899097	G	A	SBF1	c.3012C>T	NM_002972.4	NP_002963.2:p.(Ala1004=)	NC_000022.10:g.50899097G>A	(Likely) benign	1 lab	8867a6ba29
11:17542554 USH1C C>A	11	17542554	17542554	C	A	USH1C	c.1086-13G>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17542554C>A	(Likely) benign	1 lab	8868c7af34
1:177927479 SEC16B T>C	1	177927479	177927479	T	C	SEC16B	c.1153A>G	NM_033127.4	NP_149118.2:p.(Ile385Val)	NC_000001.10:g.177927479T>C	(Likely) benign	1 lab	886a426860
6:49893259 MISSING T>Alt too long to show for this DUP	6	49893259	50052300	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.49893260_50052300dup	VUS	1 lab	886a5eeaeb
3:195513214 MUC4 A>G	3	195513214	195513214	A	G	MUC4	c.5237T>C	NM_018406.7	NP_060876.5:p.(Leu1746Pro)	NC_000003.11:g.195513214A>G	(Likely) benign	1 lab	886b683ebc
18:58038831 MC4R A>G	18	58038831	58038831	A	G	MC4R	c.752T>C	NM_005912.3	NP_005903.2:p.(Ile251Thr)	NC_000018.9:g.58038831A>G	VUS	1 lab	8870bc1197
19:11216132 LDLR T>C	19	11216132	11216132	T	C	LDLR	c.550T>C	NM_000527.5	NP_000518.1:p.(Cys184Arg)	NC_000019.9:g.11216132T>C	(Likely) pathogenic	1 lab	8875b625e9
12:125279967 SCARB1 T>TG	12	125279967	125279975	T	TG	SCARB1	c.1129-154dup	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279975dup	(Likely) benign	1 lab	8875bfcf84
1:3342248 PRDM16 C>T	1	3342248	3342248	C	T	PRDM16	c.3043C>T	NM_022114.4	NP_071397.3:p.(Arg1015Cys)	NC_000001.10:g.3342248C>T	VUS	1 lab	8876214aa7
11:121429517 SORL1 CCGCA>C	11	121429517	121429522	CCGCA	C	SORL1	c.2883_2886del	NM_003105.6	NP_003096.2:p.(His962ProfsTer45)	NC_000011.9:g.121429519_121429522del	(Likely) pathogenic	1 lab	887706bd8c
11:47364678 MYBPC3 G>A	11	47364678	47364678	G	A	MYBPC3	c.1245C>T	NM_000256.3	NP_000247.2:p.(Ile415=)	NC_000011.9:g.47364678G>A	(Likely) benign	1 lab	887718d762
1:201342343 TNNT2 C>A	1	201342343	201342343	C	A	TNNT2	c.40G>T	NM_001276347.2	NP_001263276.1:p.(Glu14Ter)	NC_000001.10:g.201342343C>A	VUS	1 lab	88789924a2
Y:6115843 TSPY2 T>C	Y	6115843	6115843	T	C	TSPY2	c.704T>C	NM_022573.3	NP_072095.2:p.(Ile235Thr)	NC_000024.9:g.6115843T>C	(Likely) benign	1 lab	8879b38cf3
16:68867402 CDH1 G>C	16	68867402	68867402	G	C	CDH1	c.2649G>C	NM_004360.5	NP_004351.1:p.(Ter883TyrextTer29)	NC_000016.9:g.68867402G>C	VUS	1 lab	8879fd36ab
15:48888588 FBN1 G>A	15	48888588	48888588	G	A	FBN1	c.443-13C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48888588G>A	(Likely) benign	1 lab	887eb86405
10:90974696 LIPA C>T	10	90974696	90974696	C	T	LIPA	c.1089G>A	NM_000235.4	NP_000226.2:p.(Leu363=)	NC_000010.10:g.90974696C>T	(Likely) benign	1 lab	887feb5beb
9:127843123 MISSING Ref too long to show for this DEL>C	9	127843123	128082628	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.127843126_128082628del	VUS	1 lab	8880c9570e
2:219677652 CYP27A1 A>T	2	219677652	219677652	A	T	CYP27A1	c.850A>T	NM_000784.4	NP_000775.1:p.(Lys284Ter)	NC_000002.11:g.219677652A>T	(Likely) pathogenic	1 lab	8882c0b033
1:979517 AGRN T>A	1	979517	979517	T	A	AGRN	c.2028T>A	NM_001305275.2	NP_001292204.1:p.(Ser676=)	NC_000001.10:g.979517T>A	(Likely) benign	1 lab	88830d1d19
1:6537602 PLEKHG5 G>A	1	6537602	6537602	G	A	PLEKHG5	c.30C>T	NM_198681.4	NP_941374.3:p.(Asp10=)	NC_000001.10:g.6537602G>A	(Likely) benign	1 lab	888371a9e5
14:105174042 INF2 C>G	14	105174042	105174042	C	G	INF2	c.1438C>G	NM_022489.4	NP_071934.3:p.(Leu480Val)	NC_000014.8:g.105174042C>G	VUS	1 lab	8886bc6645
2:243567 SH3YL1 T>TAA	2	243567	243577	T	TAA	SH3YL1	c.-131-7_-131-6dup	NM_001282687.2	NP_001269616.1:p.?	NC_000002.11:g.243576_243577dup	(Likely) benign	1 lab	8888815655
18:77464853 CTDP1 C>T	18	77464853	77464853	C	T	CTDP1	c.708C>T	NM_048368.4	NP_430255.2:p.(Ile236=)	NC_000018.9:g.77464853C>T	(Likely) benign	1 lab	888bf94469
16:1021326 LMF1 C>T	16	1021326	1021326	C	T	LMF1	c.-362+9819G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021326C>T	(Likely) benign	1 lab	88924dcd17
15:44907615 SPG11 T>C	15	44907615	44907615	T	C	SPG11	c.2984A>G	NM_025137.4	NP_079413.3:p.(Tyr995Cys)	NC_000015.9:g.44907615T>C	VUS	1 lab	8892ab99c6
3:24164613 THRB C>T	3	24164613	24164613	C	T	THRB	c.1148G>A	NM_001354708.2	NP_001341637.1:p.(Arg383His)	NC_000003.11:g.24164613C>T	(Likely) pathogenic	1 lab	8894cee249
2:5833001 SOX11 A>C	2	5833001	5833001	A	C	SOX11	c.148A>C	NM_003108.4	NP_003099.1:p.(Lys50Gln)	NC_000002.11:g.5833001A>C	(Likely) pathogenic	1 lab	889738c71d
22:50656734 TUBGCP6 G>A	22	50656734	50656734	G	A	TUBGCP6	c.5052C>T	NM_020461.4	NP_065194.3:p.(Ile1684=)	NC_000022.10:g.50656734G>A	(Likely) benign	1 lab	8897f9d03b
1:236900597 ACTN2 G>GTATATA	1	236900597	236900598	G	GTATATA	ACTN2	c.876+83_876+84insTATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATA	(Likely) benign	1 lab	889b4d8331
16:57015463 CETP G>A	16	57015463	57015463	G	A	CETP	c.1215-96G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015463G>A	(Likely) benign	1 lab	889cd9b95e
11:45936150 PEX16 C>T	11	45936150	45936150	C	T	PEX16	c.541+5G>A	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45936150C>T	VUS	1 lab	88a09eb5ca
19:1397443 GAMT G>A	19	1397443	1397443	G	A	GAMT	c.626C>T	NM_000156.6	NP_000147.1:p.(Thr209Met)	NC_000019.9:g.1397443G>A	(Likely) benign	1 lab	88a205801f
4:650750 PDE6B G>A	4	650750	650750	G	A	PDE6B	c.1195G>A	NM_000283.4	NP_000274.3:p.(Ala399Thr)	NC_000004.11:g.650750G>A	VUS	1 lab	88a22c3880
7:128482684 FLNC TGGA>T	7	128482684	128482688	TGGA	T	FLNC	c.2323_2325del	NM_001458.5	NP_001449.3:p.(Glu775del)	NC_000007.13:g.128482686_128482688del	VUS	1 lab	88a52f39e0
2:179599168 TTN G>C	2	179599168	179599168	G	C	TTN	c.15383C>G	NM_001267550.2	NP_001254479.2:p.(Ser5128Cys)	NC_000002.11:g.179599168G>C	VUS	1 lab	88a5e007b9
8:61754190 CHD7 T>G	8	61754190	61754190	T	G	CHD7	c.4534-13T>G	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61754190T>G	(Likely) benign	1 lab	88a9313559
20:62654090 PRPF6 C>T	20	62654090	62654090	C	T	PRPF6	c.1648-20C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62654090C>T	VUS	1 lab	88aaf68282
19:55370581 KIR3DL2 T>A	19	55370581	55370581	T	A	KIR3DL2	c.997T>A	NM_006737.4	NP_006728.2:p.(Ser333Thr)	NC_000019.9:g.55370581T>A	(Likely) benign	1 lab	88adcee8c7
13:95114599 DCT C>T	13	95114599	95114599	C	T	DCT	c.864-156G>A	NM_001922.5	NP_001913.2:p.?	NC_000013.10:g.95114599C>T	(Likely) benign	1 lab	88aed359d4
2:179596051 TTN A>G	2	179596051	179596051	A	G	TTN	c.17442T>C	NM_001267550.2	NP_001254479.2:p.(Ser5814=)	NC_000002.11:g.179596051A>G	(Likely) benign	1 lab	88b112d0a4
17:15142880 PMP22 C>A	17	15142880	15142880	C	A	PMP22	c.227G>T	NM_000304.4	NP_000295.1:p.(Ser76Ile)	NC_000017.10:g.15142880C>A	(Likely) pathogenic	1 lab	88b20c3bac
5:82834630 VCAN T>C	5	82834630	82834630	T	C	VCAN	c.5808T>C	NM_004385.5	NP_004376.2:p.(Gly1936=)	NC_000005.9:g.82834630T>C	(Likely) benign	1 lab	88ba5409b8
19:50098734 PRR12 G>GC	19	50098734	50098738	G	GC	PRR12	c.1146dup	NM_020719.3	NP_065770.1:p.(Ile383HisfsTer176)	NC_000019.9:g.50098738dup	(Likely) pathogenic	1 lab	88bc9fb55c
22:26860240 HPS4 T>G	22	26860240	26860240	T	G	HPS4	c.1356A>C	NM_022081.6	NP_071364.4:p.(Gln452His)	NC_000022.10:g.26860240T>G	(Likely) benign	1 lab	88bcca564f
4:122766800 BBS7 A>T	4	122766800	122766800	A	T	BBS7	c.1089T>A	NM_176824.3	NP_789794.1:p.(Tyr363Ter)	NC_000004.11:g.122766800A>T	(Likely) pathogenic	1 lab	88be048719
8:61741378 CHD7 T>A	8	61741378	61741378	T	A	CHD7	c.3522+13T>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61741378T>A	(Likely) benign	1 lab	88c1518fd2
12:59268129 LRIG3 C>T	12	59268129	59268129	C	T	LRIG3	c.2840-17G>A	NM_153377.5	NP_700356.2:p.?	NC_000012.11:g.59268129C>T	(Likely) benign	1 lab	88c27c5c40
17:39975015 FKBP10 C>A	17	39975015	39975015	C	A	FKBP10	c.727+236C>A	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39975015C>A	(Likely) benign	1 lab	88c52fda00
1:151134579 LYSMD1 T>TA	1	151134579	151134589	T	TA	LYSMD1	c.181-4dup	NM_212551.5	NP_997716.1:p.?	NC_000001.10:g.151134589dup	(Likely) benign	1 lab	88c7fa9f55
18:10691215 PIEZO2 C>T	18	10691215	10691215	C	T	PIEZO2	c.7010+8G>A	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10691215C>T	(Likely) benign	1 lab	88ca31d254
3:195806731 MISSING C>Alt too long to show for this DUP	3	195806731	195956827	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.195806733_195956827dup	VUS	1 lab	88ca94d087
1:3328561 PRDM16 C>T	1	3328561	3328561	C	T	PRDM16	c.1800C>T	NM_022114.4	NP_071397.3:p.(Asp600=)	NC_000001.10:g.3328561C>T	(Likely) benign	1 lab	88cd3f0e63
2:73676296 ALMS1 C>CT	2	73676296	73676297	C	CT	ALMS1	c.2646dup	NM_015120.4	NP_055935.4:p.(Glu883Ter)	NC_000002.11:g.73676297dup	(Likely) pathogenic	1 lab	88e10a9b98
9:107556808 ABCA1 A>AAAG	9	107556808	107556811	A	AAAG	ABCA1	c.5383-18_5383-17insCTT	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556810_107556811insGAA	(Likely) benign	1 lab	88d6cc8c06
6:7558740 DSP C>CT	6	7558740	7558765	C	CT	DSP	c.422+268dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558765dup	(Likely) benign	1 lab	88d73ae971
2:21234739 APOB C>T	2	21234739	21234739	C	T	APOB	c.5001G>A	NM_000384.3	NP_000375.3:p.(Leu1667=)	NC_000002.11:g.21234739C>T	(Likely) benign	1 lab	88d8c5b117
1:2160269 SKI G>A	1	2160269	2160269	G	A	SKI	c.64G>A	NM_003036.4	NP_003027.1:p.(Glu22Lys)	NC_000001.10:g.2160269G>A	(Likely) benign	1 lab	88e17b025d
14:23863487 MYH6 C>T	14	23863487	23863487	C	T	MYH6	c.2475G>A	NM_002471.4	NP_002462.2:p.(Gly825=)	NC_000014.8:g.23863487C>T	(Likely) benign	1 lab	88e1c781fe
2:179462386 TTN G>A	2	179462386	179462386	G	A	TTN	c.57423C>T	NM_001267550.2	NP_001254479.2:p.(Thr19141=)	NC_000002.11:g.179462386G>A	(Likely) benign	1 lab	88e2e9af5a
X:37700333 DYNLT3 G>A	X	37700333	37700333	G	A	DYNLT3	c.222C>T	NM_006520.3	NP_006511.1:p.(Ser74=)	NC_000023.10:g.37700333G>A	(Likely) benign	1 lab	88e477b1e6
10:95422898 PDE6C A>G	10	95422898	95422898	A	G	PDE6C	c.2481A>G	NM_006204.4	NP_006195.3:p.(Glu827=)	NC_000010.10:g.95422898A>G	(Likely) benign	1 lab	88ea94d4cc
15:85402060 ALPK3 G>A	15	85402060	85402060	G	A	ALPK3	c.3817+274G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402060G>A	(Likely) benign	1 lab	88eb3928fe
1:237060945 MTR C>CT	1	237060945	237060960	C	CT	MTR	c.*16dup	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060960dup	(Likely) benign	1 lab	88ecdd9540
11:2798246 KCNQ1 G>A	11	2798246	2798246	G	A	KCNQ1	c.1716G>A	NM_000218.3	NP_000209.2:p.(Leu572=)	NC_000011.9:g.2798246G>A	(Likely) benign	1 lab	88eceda60b
10:100195425 HPS1 C>T	10	100195425	100195425	C	T	HPS1	c.222G>A	NM_001322477.2	NP_001309406.1:p.(Thr74=)	NC_000010.10:g.100195425C>T	VUS	1 lab	88efd0d84c
2:114004445 PAX8 A>G	2	114004445	114004445	A	G	PAX8	c.77T>C	NM_003466.4	NP_003457.1:p.(Leu26Pro)	NC_000002.11:g.114004445A>G	VUS	1 lab	88f3ebfe28
1:180757007 XPR1 C>CT	1	180757007	180757017	C	CT	XPR1	c.223+27dup	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180757017dup	(Likely) benign	1 lab	88f6b1fa48
16:17228350 XYLT1 C>T	16	17228350	17228350	C	T	XYLT1	c.2007G>A	NM_022166.4	NP_071449.1:p.(Thr669=)	NC_000016.9:g.17228350C>T	(Likely) benign	1 lab	88fb2ca92d
15:67358734 SMAD3 C>T	15	67358734	67358734	C	T	SMAD3	c.206+36C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67358734C>T	(Likely) benign	1 lab	88fecbf126
22:41573533 EP300 C>T	22	41573533	41573533	C	T	EP300	c.5818C>T	NM_001429.4	NP_001420.2:p.(Arg1940Cys)	NC_000022.10:g.41573533C>T	(Likely) benign	1 lab	88ffbe2d8b
X:70601705 TAF1 C>G	X	70601705	70601705	C	G	TAF1	c.1473C>G	NM_001286074.2	NP_001273003.2:p.(Ala491=)	NC_000023.10:g.70601705C>G	(Likely) benign	1 lab	89030aa7b5
14:23888742 MYH7 C>T	14	23888742	23888742	C	T	MYH7	c.3803G>A	NM_000257.4	NP_000248.2:p.(Arg1268His)	NC_000014.8:g.23888742C>T	VUS	1 lab	8903bd4950
3:38622503 SCN5A G>A	3	38622503	38622503	G	A	SCN5A	c.3147C>T	NM_001099404.2	NP_001092874.1:p.(Ile1049=)	NC_000003.11:g.38622503G>A	(Likely) benign	1 lab	89054ee0f8
8:39511972 ADAM18 Ref too long to show for this DEL>C	8	39511972	39586376	Ref too long to show for this DEL	C	ADAM18	c.1230+5927_2178-1041del	NM_014237.3	NP_055052.1:p.?	NC_000008.10:g.39511973_39586376del	VUS	1 lab	890666f777
2:179448471 TTN T>G	2	179448471	179448471	T	G	TTN	c.57734A>C	NM_133378.4	NP_596869.4:p.(Gln19245Pro)	NC_000002.11:g.179448471T>G	VUS	1 lab	89074cc26a
1:12009937 PLOD1 G>A	1	12009937	12009937	G	A	PLOD1	c.276G>A	NM_000302.4	NP_000293.2:p.(Glu92=)	NC_000001.10:g.12009937G>A	(Likely) benign	1 lab	8909c61f04
19:40900484 PRX C>T	19	40900484	40900484	C	T	PRX	c.3775G>A	NM_181882.3	NP_870998.2:p.(Glu1259Lys)	NC_000019.9:g.40900484C>T	(Likely) benign	1 lab	890c55e0de
12:49446097 KMT2D G>A	12	49446097	49446097	G	A	KMT2D	c.1369C>T	NM_003482.4	NP_003473.3:p.(Pro457Ser)	NC_000012.11:g.49446097G>A	VUS	1 lab	890c8a3c6b
15:73622067 HCN4 G>A	15	73622067	73622067	G	A	HCN4	c.1437C>T	NM_005477.3	NP_005468.1:p.(Ile479=)	NC_000015.9:g.73622067G>A	(Likely) benign	1 lab	891013cc0c
17:15903520 TTC19 G>A	17	15903520	15903520	G	A	TTC19	c.273G>A	NM_017775.4	NP_060245.3:p.(Glu91=)	NC_000017.10:g.15903520G>A	(Likely) benign	1 lab	8910ac0246
14:100813108 WARS1 G>A	14	100813108	100813108	G	A	WARS1	c.801C>T	NM_173701.2	NP_776049.1:p.(Phe267=)	NC_000014.8:g.100813108G>A	(Likely) benign	1 lab	891172922c
11:66331443 CTSF A>C	11	66331443	66331443	A	C	CTSF	c.1416T>G	NM_003793.4	NP_003784.2:p.(Cys472Trp)	NC_000011.9:g.66331443A>C	(Likely) pathogenic	1 lab	89136c71db
19:8200838 FBN3 A>C	19	8200838	8200838	A	C	FBN3	c.1591+7T>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8200838A>C	(Likely) benign	1 lab	891383ce75
18:47808701 MISSING T>Alt too long to show for this DUP	18	47808701	47907626	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.47808702_47907626dup	VUS	1 lab	8915030da0
10:71124658 HK1 G>A	10	71124658	71124658	G	A	HK1	c.600G>A	NM_001322365.2	NP_001309294.1:p.(Glu200=)	NC_000010.10:g.71124658G>A	(Likely) benign	1 lab	8916d8dee6
2:183850933 NCKAP1 T>C	2	183850933	183850933	T	C	NCKAP1	c.988A>G	NM_205842.3	NP_995314.1:p.(Ile330Val)	NC_000002.11:g.183850933T>C	VUS	1 lab	8918638a9e
6:123699019 TRDN A>C	6	123699019	123699019	A	C	TRDN	c.1211T>G	NM_006073.4	NP_006064.2:p.(Val404Gly)	NC_000006.11:g.123699019A>C	(Likely) benign	1 lab	891b3f060f
7:55240803 EGFR C>T	7	55240803	55240803	C	T	EGFR	c.2047C>T	NM_005228.5	NP_005219.2:p.(Leu683=)	NC_000007.13:g.55240803C>T	(Likely) benign	1 lab	891d6afd47
2:112767548 MERTK C>G	2	112767548	112767548	C	G	MERTK	c.1984C>G	NM_006343.3	NP_006334.2:p.(Gln662Glu)	NC_000002.11:g.112767548C>G	(Likely) benign	1 lab	891d99123b
2:15608307 NBAS T>G	2	15608307	15608307	T	G	NBAS	c.1877+199A>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15608307T>G	(Likely) benign	1 lab	891e08d709
1:237870559 RYR2 G>A	1	237870559	237870559	G	A	RYR2	c.9891G>A	NM_001035.3	NP_001026.2:p.(Lys3297=)	NC_000001.10:g.237870559G>A	(Likely) benign	1 lab	8920ba8352
1:25889614 LDLRAP1 C>T	1	25889614	25889614	C	T	LDLRAP1	c.586C>T	NM_015627.3	NP_056442.2:p.(Arg196Cys)	NC_000001.10:g.25889614C>T	(Likely) benign	1 lab	8920d737f6
19:11227631 LDLR A>G	19	11227631	11227631	A	G	LDLR	c.1802A>G	NM_000527.5	NP_000518.1:p.(Asp601Gly)	NC_000019.9:g.11227631A>G	VUS	1 lab	8923531bb2
9:139327019 INPP5E C>T	9	139327019	139327019	C	T	INPP5E	c.1296G>A	NM_001318502.2	NP_001305431.1:p.(Ala432=)	NC_000009.11:g.139327019C>T	(Likely) benign	1 lab	8926f8eda9
15:85405920 ALPK3 C>G	15	85405920	85405920	C	G	ALPK3	c.4184C>G	NM_020778.5	NP_065829.4:p.(Ser1395Cys)	NC_000015.9:g.85405920C>G	VUS	1 lab	89274853a0
17:63376884 MISSING Ref too long to show for this DEL>T	17	63376884	64092414	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.63376885_64092414del	(Likely) pathogenic	1 lab	89294c768c
6:35479937 TULP1 G>A	6	35479937	35479937	G	A	TULP1	c.190+20C>T	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35479937G>A	(Likely) benign	1 lab	892a175e56
X:153689042 MISSING C>Alt too long to show for this DUP	X	153689042	153926812	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153689044_153926812dup	VUS	1 lab	892af4fd4a
6:7556031 DSP G>A	6	7556031	7556031	G	A	DSP	c.251G>A	NM_004415.4	NP_004406.2:p.(Arg84Gln)	NC_000006.11:g.7556031G>A	VUS	1 lab	892c82f958
2:21225976 APOB T>C	2	21225976	21225976	T	C	APOB	c.12318A>G	NM_000384.3	NP_000375.3:p.(Arg4106=)	NC_000002.11:g.21225976T>C	(Likely) benign	1 lab	892e8ee7f2
1:879384 SAMD11 G>A	1	879384	879384	G	A	SAMD11	c.1897G>A	NM_152486.4	NP_689699.3:p.(Gly633Ser)	NC_000001.10:g.879384G>A	(Likely) benign	1 lab	892f1a5a2e
16:67973998 LCAT C>T	16	67973998	67973998	C	T	LCAT	c.1132G>A	NM_000229.2	NP_000220.1:p.(Glu378Lys)	NC_000016.9:g.67973998C>T	(Likely) benign	1 lab	8931573305
X:132830785 GPC3 Ref too long to show for this DEL>G	X	132830785	132838929	Ref too long to show for this DEL	G	GPC3	c.1033-4873_1166+3137del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132830786_132838929del	(Likely) pathogenic	1 lab	8932d79c8c
1:63063501 ANGPTL3 A>C	1	63063501	63063501	A	C	ANGPTL3	c.264A>C	NM_014495.4	NP_055310.1:p.(Gln88His)	NC_000001.10:g.63063501A>C	VUS	1 lab	8933ff5ef4
16:57954302 CNGB1 C>A	16	57954302	57954302	C	A	CNGB1	c.1790G>T	NM_001297.5	NP_001288.3:p.(Ser597Ile)	NC_000016.9:g.57954302C>A	VUS	1 lab	89369c2ad6
7:92098701 ERVW-1 G>C	7	92098701	92098701	G	C	ERVW-1	c.995C>G	NM_014590.4	NP_055405.3:p.(Ala332Gly)	NC_000007.13:g.92098701G>C	(Likely) benign	1 lab	893c99fa5b
12:20885941 SLCO1C1 T>C	12	20885941	20885941	T	C	SLCO1C1	c.1285T>C	NM_001145946.2	NP_001139418.1:p.(Leu429=)	NC_000012.11:g.20885941T>C	(Likely) benign	1 lab	8940aeec40
15:63363366 TPM1 A>G	15	63363366	63363366	A	G	TPM1	c.850A>G	NM_001018004.2	NP_001018004.1:p.(Met284Val)	NC_000015.9:g.63363366A>G	VUS	1 lab	89444393d3
6:112455663 LAMA4 C>G	6	112455663	112455663	C	G	LAMA4	c.3536+6G>C	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112455663C>G	(Likely) benign	1 lab	894a3ec020
5:149435894 CSF1R C>T	5	149435894	149435894	C	T	CSF1R	c.2330G>A	NM_005211.4	NP_005202.2:p.(Arg777Gln)	NC_000005.9:g.149435894C>T	(Likely) pathogenic	1 lab	894bb42340
17:56492800 RNF43 T>C	17	56492800	56492800	T	C	RNF43	c.139A>G	NM_017763.6	NP_060233.3:p.(Ile47Val)	NC_000017.10:g.56492800T>C	(Likely) benign	1 lab	89506fe1ce
14:102477298 DYNC1H1 G>A	14	102477298	102477298	G	A	DYNC1H1	c.6618+9G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102477298G>A	(Likely) benign	1 lab	89574a4e4d
Y:59050906 MISSING Ref too long to show for this DEL>T	Y	59050906	59330319	Ref too long to show for this DEL	T	MISSING				NC_000024.9:g.59050908_59330319del	VUS	1 lab	8959a1437b
6:110112763 FIG4 A>G	6	110112763	110112763	A	G	FIG4	c.2365A>G	NM_014845.6	NP_055660.1:p.(Lys789Glu)	NC_000006.11:g.110112763A>G	VUS	1 lab	895aac265f
17:48278815 COL1A1 C>T	17	48278815	48278815	C	T	COL1A1	c.60G>A	NM_000088.4	NP_000079.2:p.(Thr20=)	NC_000017.10:g.48278815C>T	(Likely) benign	1 lab	896097c551
2:189916458 COL5A2 G>A	2	189916458	189916458	G	A	COL5A2	c.2770-251C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189916458G>A	(Likely) benign	1 lab	8973c3b2f9
17:40196300 ZNF385C T>Alt too long to show for this DUP	17	40196300	40233023	T	Alt too long to show for this DUP	ZNF385C	c.-3+17405_251-6398dup	NM_001392013.1	NP_001378942.1:p.?	NC_000017.10:g.40196301_40233023dup	VUS	1 lab	89611ee8ee
2:98128473 ANKRD36B G>A	2	98128473	98128473	G	A	ANKRD36B	c.2848C>T	NM_025190.4	NP_079466.3:p.(Arg950Cys)	NC_000002.11:g.98128473G>A	(Likely) benign	1 lab	89616134c0
12:88535104 CEP290 C>T	12	88535104	88535104	C	T	CEP290	c.-20G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88535104C>T	(Likely) benign	1 lab	8a62119de5
9:95491438 BICD2 C>T	9	95491438	95491438	C	T	BICD2	c.321G>A	NM_001003800.2	NP_001003800.1:p.(Ser107=)	NC_000009.11:g.95491438C>T	(Likely) benign	1 lab	89661d54c4
9:119426326 ASTN2 Ref too long to show for this DEL>A	9	119426326	119507505	Ref too long to show for this DEL	A	ASTN2	c.2397-11703_2807-12255del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119426327_119507505del	VUS	1 lab	8967070385
11:45931630 PEX16 G>T	11	45931630	45931630	G	T	PEX16	c.*175C>A	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45931630G>T	(Likely) benign	1 lab	8968ccc4c2
4:185599552 PRIMPOL T>C	4	185599552	185599552	T	C	PRIMPOL	c.1007+4T>C	NM_001345891.2	NP_001332820.1:p.?	NC_000004.11:g.185599552T>C	(Likely) benign	1 lab	896a3319fc
11:116662407 APOA5 G>A	11	116662407	116662407	G	A	APOA5	c.56C>T	NM_052968.5	NP_443200.2:p.(Ser19Leu)	NC_000011.9:g.116662407G>A	VUS	1 lab	896ad9bf8b
3:37584049 ITGA9 G>A	3	37584049	37584049	G	A	ITGA9	c.1662G>A	NM_002207.3	NP_002198.2:p.(Thr554=)	NC_000003.11:g.37584049G>A	(Likely) benign	1 lab	896c8c7c0f
3:21786891 MISSING C>Alt too long to show for this DUP	3	21786891	22218165	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.21786893_22218165dup	VUS	1 lab	896ccde035
1:156096703 LMNA C>G	1	156096703	156096703	C	G	LMNA	c.110C>G	NM_001282624.2	NP_001269553.1:p.(Pro37Arg)	NC_000001.10:g.156096703C>G	(Likely) benign	1 lab	896df694cd
6:16131260 MYLIP GA>G	6	16131260	16131279	GA	G	MYLIP	c.278+301del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131279del	(Likely) benign	1 lab	8974a7f81c
9:107565551 ABCA1 A>G	9	107565551	107565551	A	G	ABCA1	c.4592+14T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107565551A>G	(Likely) benign	1 lab	89770520b7
X:109560845 AMMECR1 C>CG	X	109560845	109560851	C	CG	AMMECR1	c.85dup	NM_001171689.2	NP_001165160.1:p.(Arg29ProfsTer47)	NC_000023.10:g.109560851dup	(Likely) pathogenic	1 lab	897794dc50
2:44071697 ABCG8 A>T	2	44071697	44071697	A	T	ABCG8	c.115A>T	NM_022437.3	NP_071882.1:p.(Thr39Ser)	NC_000002.11:g.44071697A>T	VUS	1 lab	89787581d2
7:81591826 CACNA2D1 TA>T	7	81591826	81591836	TA	T	CACNA2D1	c.2781-16del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81591836del	(Likely) benign	1 lab	8978a43b83
2:182402914 CERKL C>T	2	182402914	182402914	C	T	CERKL	c.1674G>A	NM_001030311.3	NP_001025482.1:p.(Lys558=)	NC_000002.11:g.182402914C>T	(Likely) benign	1 lab	897a71fb8a
22:46931292 CELSR1 C>T	22	46931292	46931292	C	T	CELSR1	c.1776G>A	NM_001378328.1	NP_001365257.1:p.(Ala592=)	NC_000022.10:g.46931292C>T	(Likely) benign	1 lab	897e4b1afb
16:57003825 CETP G>T	16	57003825	57003825	G	T	CETP	c.440-1G>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003825G>T	(Likely) pathogenic	1 lab	897fc1edd7
1:46266752 MISSING A>Alt too long to show for this DUP	1	46266752	46628889	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.46266755_46628889dup	VUS	1 lab	8982d6051b
6:75861640 COL12A1 C>T	6	75861640	75861640	C	T	COL12A1	c.3943G>A	NM_004370.6	NP_004361.3:p.(Asp1315Asn)	NC_000006.11:g.75861640C>T	VUS	1 lab	898638d5dd
1:156834186 NTRK1 C>A	1	156834186	156834186	C	A	NTRK1	c.253C>A	NM_002529.4	NP_002520.2:p.(Arg85Ser)	NC_000001.10:g.156834186C>A	VUS	1 lab	8986e7df3c
8:19819685 LPL T>C	8	19819685	19819685	T	C	LPL	c.1382T>C	NM_000237.3	NP_000228.1:p.(Val461Ala)	NC_000008.10:g.19819685T>C	(Likely) benign	1 lab	8987405eed
21:31292834 MISSING T>Alt too long to show for this DUP	21	31292834	31409811	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.31292835_31409811dup	VUS	1 lab	8aa7bae025
2:44040405 ABCG5 G>A	2	44040405	44040405	G	A	ABCG5	c.1806C>T	NM_022436.3	NP_071881.1:p.(Phe602=)	NC_000002.11:g.44040405G>A	(Likely) benign	1 lab	89897b1bdb
2:179634389 TTN TATA>T	2	179634389	179634392	TATA	T	TTN	c.8902+14_8902+16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634390_179634392del	(Likely) benign	1 lab	898fff60d0
2:21239585 APOB G>A	2	21239585	21239585	G	A	APOB	c.3122-64C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239585G>A	(Likely) benign	1 lab	8994a1e6ef
11:66299178 BBS1 A>T	11	66299178	66299178	A	T	BBS1	c.1660A>T	NM_024649.5	NP_078925.3:p.(Ser554Cys)	NC_000011.9:g.66299178A>T	VUS	1 lab	8996c86ece
5:13841229 DNAH5 A>T	5	13841229	13841229	A	T	DNAH5	c.5495T>A	NM_001369.3	NP_001360.1:p.(Leu1832Ter)	NC_000005.9:g.13841229A>T	(Likely) pathogenic	1 lab	8999452c11
X:13537090 MISSING T>Alt too long to show for this DUP	X	13537090	13798048	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13537092_13798048dup	(Likely) pathogenic	1 lab	89998ac9cd
19:11202569 LDLR G>A	19	11202569	11202569	G	A	LDLR	c.67+2278G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202569G>A	(Likely) benign	1 lab	899bc25262
8:10470053 RP1L1 C>T	8	10470053	10470053	C	T	RP1L1	c.1555G>A	NM_178857.6	NP_849188.4:p.(Gly519Ser)	NC_000008.10:g.10470053C>T	(Likely) benign	1 lab	899bd1c7c4
19:40384650 FCGBP G>A	19	40384650	40384650	G	A	FCGBP	c.9354C>T	NM_003890.2	NP_003881.2:p.(Asp3118=)	NC_000019.9:g.40384650G>A	(Likely) benign	1 lab	899f6d513c
13:114438219 GRK1 G>A	13	114438219	114438219	G	A	GRK1	c.1575G>A	NM_002929.3	NP_002920.1:p.(Thr525=)	NC_000013.10:g.114438219G>A	(Likely) benign	1 lab	89a444270b
5:148386518 SH3TC2 G>A	5	148386518	148386518	G	A	SH3TC2	c.3601C>T	NM_024577.4	NP_078853.2:p.(Gln1201Ter)	NC_000005.9:g.148386518G>A	(Likely) pathogenic	1 lab	89a5014a20
2:182543354 NEUROD1 A>G	2	182543354	182543354	A	G	NEUROD1	c.234T>C	NM_002500.5	NP_002491.3:p.(Asp78=)	NC_000002.11:g.182543354A>G	(Likely) benign	1 lab	89a5ac6418
1:236881150 ACTN2 C>G	1	236881150	236881150	C	G	ACTN2	c.-695-8C>G	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236881150C>G	(Likely) benign	1 lab	89a745a80a
11:68704207 IGHMBP2 C>T	11	68704207	68704207	C	T	IGHMBP2	c.2259C>T	NM_002180.3	NP_002171.2:p.(His753=)	NC_000011.9:g.68704207C>T	(Likely) benign	1 lab	89a7933cef
1:47685584 TAL1 T>C	1	47685584	47685584	T	C	TAL1	c.804A>G	NM_003189.5	NP_003180.1:p.(Gly268=)	NC_000001.10:g.47685584T>C	(Likely) benign	1 lab	89a9c4390d
X:9659767 TBL1X T>TG	X	9659767	9659773	T	TG	TBL1X	c.749+22dup	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9659773dup	(Likely) benign	1 lab	89aa54f171
9:116050500 PRPF4 G>A	9	116050500	116050500	G	A	PRPF4	c.981G>A	NM_004697.5	NP_004688.2:p.(Ala327=)	NC_000009.11:g.116050500G>A	(Likely) benign	1 lab	89af5482b0
16:70237571 MISSING T>Alt too long to show for this DUP	16	70237571	70364136	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70237573_70364136dup	VUS	1 lab	89b0276ce1
5:133945379 SAR1B CAG>C	5	133945379	133945381	CAG	C	SAR1B	c.245-17_245-16del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133945380_133945381del	(Likely) benign	1 lab	89b1807f54
1:236906247 ACTN2 G>C	1	236906247	236906247	G	C	ACTN2	c.535G>C	NM_001278344.2	NP_001265273.1:p.(Glu179Gln)	NC_000001.10:g.236906247G>C	VUS	1 lab	89b219fb7e
11:65308051 LTBP3 A>G	11	65308051	65308051	A	G	LTBP3	c.3012T>C	NM_001130144.3	NP_001123616.1:p.(Ile1004=)	NC_000011.9:g.65308051A>G	(Likely) benign	1 lab	89b55493e2
2:179440698 TTN GT>G	2	179440698	179440703	GT	G	TTN	c.70160del	NM_001267550.2	NP_001254479.2:p.(Asn23387ThrfsTer14)	NC_000002.11:g.179440703del	(Likely) pathogenic	1 lab	89b5cfadf9
X:130413099 IGSF1 G>A	X	130413099	130413099	G	A	IGSF1	c.1765+18C>T	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130413099G>A	(Likely) benign	1 lab	89b615b828
8:19822694 LPL T>C	8	19822694	19822694	T	C	LPL	c.1428-127T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822694T>C	(Likely) benign	1 lab	89b839dcdf
11:2797293 KCNQ1 G>A	11	2797293	2797293	G	A	KCNQ1	c.1685+9G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2797293G>A	(Likely) benign	1 lab	89b9cbb36a
8:6378691 ANGPT2 A>G	8	6378691	6378691	A	G	ANGPT2	c.799+8T>C	NM_001147.3	NP_001138.1:p.?	NC_000008.10:g.6378691A>G	(Likely) benign	1 lab	89bcb2c96e
4:100534554 MTTP T>G	4	100534554	100534554	T	G	MTTP	c.2217+257T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534554T>G	(Likely) benign	1 lab	89be8112b9
X:15770279 MISSING A>Alt too long to show for this DUP	X	15770279	15961642	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.15770280_15961642dup	VUS	1 lab	89bf11f41a
12:122254931 SETD1B C>T	12	122254931	122254931	C	T	SETD1B	c.2716-8C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122254931C>T	(Likely) benign	1 lab	89c31d18c7
7:107323731 SLC26A4 G>A	7	107323731	107323731	G	A	SLC26A4	c.850G>A	NM_000441.2	NP_000432.1:p.(Ala284Thr)	NC_000007.13:g.107323731G>A	VUS	1 lab	89c38040e9
1:236900615 ACTN2 A>ATATATG	1	236900615	236900619	A	ATATATG	ACTN2	c.876+104_876+105insATGTAT	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900618_236900619insATGTAT	(Likely) benign	1 lab	89c57e3e91
9:139411705 NOTCH1 G>A	9	139411705	139411705	G	A	NOTCH1	c.1555+19C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139411705G>A	(Likely) benign	1 lab	89c5dfd2fc
10:75868904 VCL G>A	10	75868904	75868904	G	A	VCL	c.2735G>A	NM_003373.4	NP_003364.1:p.(Trp912Ter)	NC_000010.10:g.75868904G>A	VUS	1 lab	89c702bdb0
4:120016896 MISSING C>Alt too long to show for this DUP	4	120016896	120108472	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.120016898_120108472dup	VUS	1 lab	89c722519d
2:179407817 TTN C>T	2	179407817	179407817	C	T	TTN	c.96883G>A	NM_001267550.2	NP_001254479.2:p.(Val32295Met)	NC_000002.11:g.179407817C>T	VUS	1 lab	89c885a600
22:37538508 IL2RB G>A	22	37538508	37538508	G	A	IL2RB	c.248C>T	NM_000878.5	NP_000869.1:p.(Ser83Phe)	NC_000022.10:g.37538508G>A	(Likely) benign	1 lab	89c90d0e06
19:15288395 NOTCH3 C>T	19	15288395	15288395	C	T	NOTCH3	c.4344G>A	NM_000435.3	NP_000426.2:p.(Ser1448=)	NC_000019.9:g.15288395C>T	(Likely) benign	1 lab	89ca757550
11:32452001 WT1 GGAGAGA>G	11	32452001	32452037	GGAGAGA	G	WT1	c.662-1842_662-1837del	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32452032_32452037del	(Likely) benign	1 lab	89cbe6e2ae
11:108122708 ATM G>A	11	108122708	108122708	G	A	ATM	c.1752G>A	NM_000051.4	NP_000042.3:p.(Gln584=)	NC_000011.9:g.108122708G>A	(Likely) benign	1 lab	89cc589ce1
1:26384891 TRIM63 G>A	1	26384891	26384891	G	A	TRIM63	c.821C>T	NM_032588.4	NP_115977.2:p.(Thr274Ile)	NC_000001.10:g.26384891G>A	VUS	1 lab	89cdd269aa
3:33161925 CRTAP T>C	3	33161925	33161925	T	C	CRTAP	c.561T>C	NM_006371.5	NP_006362.1:p.(Tyr187=)	NC_000003.11:g.33161925T>C	(Likely) benign	1 lab	89d1bd413a
15:85400708 ALPK3 C>G	15	85400708	85400708	C	G	ALPK3	c.2739C>G	NM_020778.5	NP_065829.4:p.(His913Gln)	NC_000015.9:g.85400708C>G	VUS	1 lab	89d4523f37
6:44272284 AARS2 G>C	6	44272284	44272284	G	C	AARS2	c.1753-14C>G	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44272284G>C	(Likely) benign	1 lab	89d969a55b
16:23117810 USP31 TA>T	16	23117810	23117820	TA	T	USP31	c.772-3del	NM_020718.4	NP_065769.3:p.?	NC_000016.9:g.23117820del	(Likely) benign	1 lab	89da94c293
8:19818482 LPL A>G	8	19818482	19818482	A	G	LPL	c.1210A>G	NM_000237.3	NP_000228.1:p.(Met404Val)	NC_000008.10:g.19818482A>G	VUS	1 lab	89dab146f7
2:131451813 MISSING Ref too long to show for this DEL>C	2	131451813	131967138	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.131451815_131967138del	VUS	1 lab	89dcb25dc3
9:139362969 MISSING A>Alt too long to show for this DUP	9	139362969	139432609	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.139362970_139432609dup	VUS	1 lab	89dcb4d2b2
11:108202218 ATM C>T	11	108202218	108202218	C	T	ATM	c.7563C>T	NM_000051.4	NP_000042.3:p.(Tyr2521=)	NC_000011.9:g.108202218C>T	(Likely) benign	1 lab	89dd17de1b
14:105176473 INF2 C>T	14	105176473	105176473	C	T	INF2	c.2187C>T	NM_022489.4	NP_071934.3:p.(Ala729=)	NC_000014.8:g.105176473C>T	(Likely) benign	1 lab	89de2ceb05
1:161275973 MPZ A>G	1	161275973	161275973	A	G	MPZ	c.585-15T>C	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275973A>G	(Likely) benign	1 lab	89e1e0252a
16:89391092 ANKRD11 A>G	16	89391092	89391092	A	G	ANKRD11	c.-59-7606T>C	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89391092A>G	(Likely) benign	1 lab	89e5cde178
12:122265414 SETD1B G>C	12	122265414	122265414	G	C	SETD1B	c.5338-11G>C	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122265414G>C	(Likely) benign	1 lab	89e97c60d4
9:113431253 MUSK AC>A	9	113431253	113431254	AC	A	MUSK	c.70del	NM_005592.4	NP_005583.1:p.(Leu24PhefsTer17)	NC_000009.11:g.113431254del	(Likely) pathogenic	1 lab	89ed9e3d82
3:172080417 FNDC3B C>T	3	172080417	172080417	C	T	FNDC3B	c.2796-6C>T	NM_022763.4	NP_073600.3:p.?	NC_000003.11:g.172080417C>T	(Likely) benign	1 lab	89ee9af15d
10:88452329 LDB3 G>A	10	88452329	88452329	G	A	LDB3	c.1100+1G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88452329G>A	VUS	1 lab	89fcec44a3
3:38646313 SCN5A T>G	3	38646313	38646313	T	G	SCN5A	c.1425A>C	NM_000335.5	NP_000326.2:p.(Arg475Ser)	NC_000003.11:g.38646313T>G	VUS	1 lab	8a002c325b
17:7126070 ACADVL C>T	17	7126070	7126070	C	T	ACADVL	c.735C>T	NM_001270448.2	NP_001257377.1:p.(Asn245=)	NC_000017.10:g.7126070C>T	(Likely) benign	1 lab	8a01d56b71
14:21854341 CHD8 A>G	14	21854341	21854341	A	G	CHD8	c.7183-6T>C	NM_001170629.2	NP_001164100.1:p.?	NC_000014.8:g.21854341A>G	(Likely) benign	1 lab	8a03b2e094
4:41747899 PHOX2B G>T	4	41747899	41747899	G	T	PHOX2B	c.870C>A	NM_003924.4	NP_003915.2:p.(Pro290=)	NC_000004.11:g.41747899G>T	(Likely) benign	1 lab	8a03b6f4ba
14:74539325 ALDH6A1 C>A	14	74539325	74539325	C	A	ALDH6A1	c.112-11G>T	NM_005589.4	NP_005580.1:p.?	NC_000014.8:g.74539325C>A	(Likely) benign	1 lab	8a081bed8b
9:98218573 PTCH1 G>A	9	98218573	98218573	G	A	PTCH1	c.3291C>T	NM_000264.5	NP_000255.2:p.(Thr1097=)	NC_000009.11:g.98218573G>A	(Likely) benign	1 lab	8a08f86cb2
19:50783475 MYH14 C>T	19	50783475	50783475	C	T	MYH14	c.4138-13C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50783475C>T	(Likely) benign	1 lab	8a09ac2ed0
8:19148998 MISSING Ref too long to show for this DEL>A	8	19148998	19187672	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.19149000_19187672del	VUS	1 lab	8a0ad071ab
17:37821737 TCAP G>T	17	37821737	37821737	G	T	TCAP	c.110+15G>T	NM_003673.4	NP_003664.1:p.?	NC_000017.10:g.37821737G>T	(Likely) benign	1 lab	8a0ec66d9d
21:38853058 DYRK1A TA>T	21	38853058	38853064	TA	T	DYRK1A	c.425del	NM_130436.2	NP_569120.1:p.(Asn142ThrfsTer14)	NC_000021.8:g.38853064del	(Likely) pathogenic	1 lab	8a0f7dfadc
1:3328733 PRDM16 GC>G	1	3328733	3328737	GC	G	PRDM16	c.1976del	NM_022114.4	NP_071397.3:p.(Pro659ArgfsTer25)	NC_000001.10:g.3328737del	VUS	1 lab	8a46722e1c
20:12739155 MISSING Ref too long to show for this DEL>A	20	12739155	13341547	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.12739156_13341547del	VUS	1 lab	8a1295eaa3
1:237838136 RYR2 C>T	1	237838136	237838136	C	T	RYR2	c.8820C>T	NM_001035.3	NP_001026.2:p.(Ile2940=)	NC_000001.10:g.237838136C>T	(Likely) benign	1 lab	8a14810e42
1:70505185 LRRC7 T>C	1	70505185	70505185	T	C	LRRC7	c.3678T>C	NM_001370785.2	NP_001357714.1:p.(Ser1226=)	NC_000001.10:g.70505185T>C	(Likely) benign	1 lab	8a16045ef6
11:117279755 CEP164 G>A	11	117279755	117279755	G	A	CEP164	c.3748+11G>A	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117279755G>A	(Likely) benign	1 lab	8a1754f790
11:2869144 KCNQ1 G>A	11	2869144	2869144	G	A	KCNQ1	c.1942G>A	NM_000218.3	NP_000209.2:p.(Val648Ile)	NC_000011.9:g.2869144G>A	(Likely) benign	1 lab	8a1d7822b1
3:47777559 SMARCC1 C>T	3	47777559	47777559	C	T	SMARCC1	c.541G>A	NM_003074.4	NP_003065.3:p.(Ala181Thr)	NC_000003.11:g.47777559C>T	(Likely) benign	1 lab	8a23ee09f8
7:93296505 MISSING T>Alt too long to show for this DUP	7	93296505	93622366	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.93296506_93622366dup	VUS	1 lab	8a2558b2da
6:64940515 EYS G>A	6	64940515	64940515	G	A	EYS	c.6394C>T	NM_001292009.2	NP_001278938.1:p.(Leu2132=)	NC_000006.11:g.64940515G>A	(Likely) benign	1 lab	8a28758050
6:169622035 THBS2 C>T	6	169622035	169622035	C	T	THBS2	c.3273+257G>A	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169622035C>T	(Likely) benign	1 lab	8a28e05c02
13:32911345 BRCA2 T>C	13	32911345	32911345	T	C	BRCA2	c.2853T>C	NM_000059.4	NP_000050.3:p.(Leu951=)	NC_000013.10:g.32911345T>C	(Likely) benign	1 lab	8a2a3032ec
6:56425220 DST G>A	6	56425220	56425220	G	A	DST	c.7955C>T	NM_001144769.5	NP_001138241.1:p.(Ser2652Leu)	NC_000006.11:g.56425220G>A	(Likely) benign	1 lab	8a2fbab320
2:179472186 TTN C>A	2	179472186	179472186	C	A	TTN	c.53229G>T	NM_001267550.2	NP_001254479.2:p.(Val17743=)	NC_000002.11:g.179472186C>A	(Likely) benign	1 lab	8a30602f3a
9:107666268 ABCA1 A>G	9	107666268	107666268	A	G	ABCA1	c.-92-216T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107666268A>G	(Likely) benign	1 lab	8a313eafff
7:81624229 CACNA2D1 T>C	7	81624229	81624229	T	C	CACNA2D1	c.1689A>G	NM_000722.4	NP_000713.2:p.(Glu563=)	NC_000007.13:g.81624229T>C	(Likely) benign	1 lab	8a31eb2acc
15:89385036 ACAN C>T	15	89385036	89385036	C	T	ACAN	c.695C>T	NM_013227.4	NP_037359.3:p.(Thr232Met)	NC_000015.9:g.89385036C>T	(Likely) pathogenic	1 lab	8a333d887a
3:52436841 BAP1 T>TAA	3	52436841	52436843	T	TAA	BAP1	c.1936_1937insTT	NM_004656.4	NP_004647.1:p.(Tyr646PhefsTer10)	NC_000003.11:g.52436842_52436843insAA	(Likely) pathogenic	1 lab	8a373cebf0
2:21232409 APOB C>T	2	21232409	21232409	C	T	APOB	c.7331G>A	NM_000384.3	NP_000375.3:p.(Arg2444His)	NC_000002.11:g.21232409C>T	(Likely) benign	1 lab	8a3986de92
8:133923629 TG C>G	8	133923629	133923629	C	G	TG	c.4010C>G	NM_003235.5	NP_003226.4:p.(Thr1337Ser)	NC_000008.10:g.133923629C>G	VUS	1 lab	8a3a6992f4
1:213032337 FLVCR1 C>T	1	213032337	213032337	C	T	FLVCR1	c.543C>T	NM_014053.4	NP_054772.1:p.(Ser181=)	NC_000001.10:g.213032337C>T	(Likely) benign	1 lab	8a4194b51a
19:11218389 LDLR C>T	19	11218389	11218389	C	T	LDLR	c.940+199C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218389C>T	(Likely) benign	1 lab	8a41cb8062
9:87322819 NTRK2 G>C	9	87322819	87322819	G	C	NTRK2	c.420G>C	NM_006180.6	NP_006171.2:p.(Leu140Phe)	NC_000009.11:g.87322819G>C	(Likely) benign	1 lab	8a47abbb4c
6:56471798 DST T>C	6	56471798	56471798	T	C	DST	c.7628A>G	NM_001374736.1	NP_001361665.1:p.(Gln2543Arg)	NC_000006.11:g.56471798T>C	(Likely) benign	1 lab	8a489d8447
4:123600144 MISSING C>Alt too long to show for this DUP	4	123600144	123664535	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.123600145_123664535dup	VUS	1 lab	8a4934e6d6
9:107549291 ABCA1 G>A	9	107549291	107549291	G	A	ABCA1	c.6205-34C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549291G>A	(Likely) benign	1 lab	8a4ad47112
11:47363229 MYBPC3 G>A	11	47363229	47363229	G	A	MYBPC3	c.1790+313C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363229G>A	(Likely) benign	1 lab	8a4be05621
1:155657945 YY1AP1 AC>A	1	155657945	155657947	AC	A	YY1AP1	c.310del	NM_001198903.1	NP_001185832.1:p.(Val104TrpfsTer35)	NC_000001.10:g.155657947del	VUS	1 lab	8a4faf9c92
6:35434067 FANCE A>C	6	35434067	35434067	A	C	FANCE	c.1556A>C	NM_021922.3	NP_068741.1:p.(Asn519Thr)	NC_000006.11:g.35434067A>C	VUS	1 lab	8a516e68a9
2:230675752 TRIP12 G>A	2	230675752	230675752	G	A	TRIP12	c.2065C>T	NM_001284214.2	NP_001271143.1:p.(Gln689Ter)	NC_000002.11:g.230675752G>A	(Likely) pathogenic	1 lab	8a51f07249
15:85360641 ALPK3 G>A	15	85360641	85360641	G	A	ALPK3	c.-43G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85360641G>A	(Likely) benign	1 lab	8a5576b091
13:111160333 COL4A2 G>A	13	111160333	111160333	G	A	COL4A2	c.4646G>A	NM_001846.4	NP_001837.2:p.(Cys1549Tyr)	NC_000013.10:g.111160333G>A	VUS	1 lab	8a566094cc
1:202911330 ADIPOR1 A>G	1	202911330	202911330	A	G	ADIPOR1	c.822T>C	NM_001290557.1	NP_001277486.1:p.(Leu274=)	NC_000001.10:g.202911330A>G	(Likely) benign	1 lab	8a56902edf
11:47359139 MYBPC3 G>A	11	47359139	47359139	G	A	MYBPC3	c.2414-9C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359139G>A	VUS	1 lab	8a56bff3b4
7:72700213 MISSING Ref too long to show for this DEL>G	7	72700213	74142468	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72700214_74142468del	(Likely) pathogenic	1 lab	8a57cf4ff8
11:117937030 MISSING Ref too long to show for this DEL>T	11	117937030	118004987	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.117937031_118004987del	VUS	1 lab	8a583e9b05
11:116661665 APOA5 G>A	11	116661665	116661665	G	A	APOA5	c.280C>T	NM_052968.5	NP_443200.2:p.(Arg94Trp)	NC_000011.9:g.116661665G>A	VUS	1 lab	8a58674b8a
11:10051403 SBF2 T>C	11	10051403	10051403	T	C	SBF2	c.422A>G	NM_030962.4	NP_112224.1:p.(Tyr141Cys)	NC_000011.9:g.10051403T>C	VUS	1 lab	8a59bb5a1d
11:2482921 KCNQ1 A>C	11	2482921	2482921	A	C	KCNQ1	c.-19A>C	NM_181798.1	NP_861463.1:p.?	NC_000011.9:g.2482921A>C	VUS	1 lab	8a5b635193
X:29398657 IL1RAPL1 Ref too long to show for this DEL>T	X	29398657	29445568	Ref too long to show for this DEL	T	IL1RAPL1	c.363-15717_703+28143del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29398658_29445568del	(Likely) pathogenic	1 lab	8a5b843988
19:11210933 LDLR C>G	19	11210933	11210933	C	G	LDLR	c.102C>G	NM_000527.5	NP_000518.1:p.(Cys34Trp)	NC_000019.9:g.11210933C>G	(Likely) pathogenic	1 lab	8a66e600e0
17:29422340 NF1 A>C	17	29422340	29422340	A	C	NF1	c.13A>C	NM_001042492.3	NP_001035957.1:p.(Arg5=)	NC_000017.10:g.29422340A>C	(Likely) benign	1 lab	8a6708e537
2:50912181 NRXN1 Ref too long to show for this DEL>C	2	50912181	51223276	Ref too long to show for this DEL	C	NRXN1	c.772+31365_833-61429del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50912183_51223276del	(Likely) pathogenic	1 lab	8a693bd4ca
X:70443902 GJB1 A>G	X	70443902	70443902	A	G	GJB1	c.345A>G	NM_000166.6	NP_000157.1:p.(Leu115=)	NC_000023.10:g.70443902A>G	(Likely) benign	1 lab	8a6c877446
9:4286407 GLIS3 T>C	9	4286407	4286407	T	C	GLIS3	c.19A>G	NM_001042413.2	NP_001035878.1:p.(Ser7Gly)	NC_000009.11:g.4286407T>C	VUS	1 lab	8a6cbf061a
2:179479681 TTN C>T	2	179479681	179479681	C	T	TTN	c.48653G>A	NM_001267550.2	NP_001254479.2:p.(Gly16218Asp)	NC_000002.11:g.179479681C>T	VUS	1 lab	8a6d09625a
11:47371802 MYBPC3 GT>G	11	47371802	47371804	GT	G	MYBPC3	c.407-140del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371804del	(Likely) benign	1 lab	8a6f9f83a1
11:1780194 CTSD C>T	11	1780194	1780194	C	T	CTSD	c.471+5G>A	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1780194C>T	VUS	1 lab	8a73b5358e
15:34544601 SLC12A6 T>C	15	34544601	34544601	T	C	SLC12A6	c.1092-16A>G	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34544601T>C	(Likely) benign	1 lab	8a75cf8d38
15:58840624 LIPC T>C	15	58840624	58840624	T	C	LIPC	c.904T>C	NM_000236.3	NP_000227.2:p.(Cys302Arg)	NC_000015.9:g.58840624T>C	VUS	1 lab	8a75ef8ddc
11:116707891 APOA1 G>A	11	116707891	116707891	G	A	APOA1	c.-240-62C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707891G>A	(Likely) benign	1 lab	8a772f2224
6:75823372 COL12A1 T>C	6	75823372	75823372	T	C	COL12A1	c.7786A>G	NM_004370.6	NP_004361.3:p.(Ile2596Val)	NC_000006.11:g.75823372T>C	(Likely) benign	1 lab	8a78d997f6
8:17942210 ASAH1 A>G	8	17942210	17942210	A	G	ASAH1	c.101T>C	NM_004315.6	NP_004306.3:p.(Phe34Ser)	NC_000008.10:g.17942210A>G	VUS	1 lab	8a79eb1f15
2:21248762 APOB T>C	2	21248762	21248762	T	C	APOB	c.2245-766A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21248762T>C	(Likely) benign	1 lab	8a7a08e04d
14:68195896 RDH12 T>C	14	68195896	68195896	T	C	RDH12	c.659-12T>C	NM_152443.3	NP_689656.2:p.?	NC_000014.8:g.68195896T>C	(Likely) benign	1 lab	8a7b4f56d8
16:15832489 MYH11 C>T	16	15832489	15832489	C	T	MYH11	c.3054G>A	NM_002474.3	NP_002465.1:p.(Glu1018=)	NC_000016.9:g.15832489C>T	(Likely) benign	1 lab	8a7d7d44b0
15:63336035 TPM1 C>T	15	63336035	63336035	C	T	TPM1	c.115-191C>T	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63336035C>T	(Likely) benign	1 lab	8a8442f3a3
8:35608028 MISSING Ref too long to show for this DEL>G	8	35608028	36069135	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.35608029_36069135del	VUS	1 lab	8a85e3978d
16:67976407 LCAT C>T	16	67976407	67976407	C	T	LCAT	c.607G>A	NM_000229.2	NP_000220.1:p.(Gly203Ser)	NC_000016.9:g.67976407C>T	VUS	1 lab	8a89856a5c
16:88495705 ZNF469 G>A	16	88495705	88495705	G	A	ZNF469	c.1827G>A	NM_001367624.2	NP_001354553.1:p.(Ser609=)	NC_000016.9:g.88495705G>A	(Likely) benign	1 lab	8a8c134ecf
16:921203 LMF1 TCTG>T	16	921203	921207	TCTG	T	LMF1	c.634_636del	NM_001352018.2	NP_001338947.1:p.(Gln212del)	NC_000016.9:g.921205_921207del	VUS	1 lab	8a8e2a0ad7
1:216348835 USH2A G>A	1	216348835	216348835	G	A	USH2A	c.4397-11C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216348835G>A	(Likely) benign	1 lab	8a9510f641
3:98596793 MISSING Ref too long to show for this DEL>A	3	98596793	98623372	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.98596794_98623372del	VUS	1 lab	8a97d70e68
X:85236824 CHM T>TA	X	85236824	85236840	T	TA	CHM	c.117-12dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236840dup	(Likely) benign	1 lab	8a98a2b300
19:40384605 FCGBP A>G	19	40384605	40384605	A	G	FCGBP	c.9399T>C	NM_003890.2	NP_003881.2:p.(Ala3133=)	NC_000019.9:g.40384605A>G	(Likely) benign	1 lab	8a9b353087
19:46299146 RSPH6A CCCT>C	19	46299146	46299162	CCCT	C	RSPH6A	c.2132_2134del	NM_030785.4	NP_110412.1:p.(Glu711del)	NC_000019.9:g.46299160_46299162del	(Likely) benign	1 lab	8a9ba5d48a
6:16143987 MYLIP G>A	6	16143987	16143987	G	A	MYLIP	c.720G>A	NM_013262.4	NP_037394.2:p.(Thr240=)	NC_000006.11:g.16143987G>A	(Likely) benign	1 lab	8a9c32c50a
2:1653130 PXDN C>T	2	1653130	1653130	C	T	PXDN	c.2422G>A	NM_012293.3	NP_036425.1:p.(Val808Ile)	NC_000002.11:g.1653130C>T	(Likely) benign	1 lab	8a9f860218
X:44879865 KDM6A G>T	X	44879865	44879865	G	T	KDM6A	c.454G>T	NM_001291415.2	NP_001278344.1:p.(Ala152Ser)	NC_000023.10:g.44879865G>T	(Likely) benign	1 lab	8aa294e0ca
15:45398420 DUOX2 A>T	15	45398420	45398420	A	T	DUOX2	c.2051T>A	NM_014080.5	NP_054799.4:p.(Val684Glu)	NC_000015.9:g.45398420A>T	VUS	1 lab	8aa3b51472
16:28884940 SH2B1 AGAGCTGGTCCCCGTGGTT>A	16	28884940	28884978	AGAGCTGGTCCCCGTGGTT	A	SH2B1	c.2091_2108del	NM_001308293.2	NP_001295222.1:p.(Val699_Leu704del)	NC_000016.9:g.28884961_28884978del	VUS	1 lab	8aabb354a2
7:138602626 KIAA1549 G>A	7	138602626	138602626	G	A	KIAA1549	c.1746C>T	NM_001164665.2	NP_001158137.1:p.(Ala582=)	NC_000007.13:g.138602626G>A	(Likely) benign	1 lab	8aac6143a8
3:48508968 TREX1 A>G	3	48508968	48508968	A	G	TREX1	c.884A>G	NM_007248.5	NP_009179.2:p.(Tyr295Cys)	NC_000003.11:g.48508968A>G	VUS	1 lab	8aaca2d115
7:16004990 MISSING A>Alt too long to show for this DUP	7	16004990	16255671	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.16004992_16255671dup	VUS	1 lab	8aae95c48f
4:100534203 MTTP A>G	4	100534203	100534203	A	G	MTTP	c.2123A>G	NM_000253.4	NP_000244.2:p.(Asn708Ser)	NC_000004.11:g.100534203A>G	(Likely) benign	1 lab	8aaf0f7c61
19:10114252 COL5A3 C>G	19	10114252	10114252	C	G	COL5A3	c.838G>C	NM_015719.4	NP_056534.2:p.(Ala280Pro)	NC_000019.9:g.10114252C>G	(Likely) benign	1 lab	8aaf7a02c3
2:96947669 SNRNP200 T>C	2	96947669	96947669	T	C	SNRNP200	c.4916-9A>G	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96947669T>C	(Likely) benign	1 lab	8aaf81b5b5
10:55698563 PCDH15 A>C	10	55698563	55698563	A	C	PCDH15	c.3388+12T>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55698563A>C	(Likely) benign	1 lab	8ab0a703c1
2:230668791 TRIP12 T>A	2	230668791	230668791	T	A	TRIP12	c.2722A>T	NM_001284214.2	NP_001271143.1:p.(Arg908Ter)	NC_000002.11:g.230668791T>A	(Likely) pathogenic	1 lab	8ab1d2577d
10:69366751 CTNNA3 C>G	10	69366751	69366751	C	G	CTNNA3	c.156G>C	NM_013266.4	NP_037398.2:p.(Ser52=)	NC_000010.10:g.69366751C>G	(Likely) benign	1 lab	8ab23d5e00
1:144813815 NBPF9 A>G	1	144813815	144813815	A	G	NBPF9	c.1062A>G	NM_001037675.3	NP_001032764.2:p.(Ala354=)	NC_000001.10:g.144813815A>G	(Likely) benign	1 lab	8ab42dbc3b
15:58838015 LIPC G>A	15	58838015	58838015	G	A	LIPC	c.649G>A	NM_000236.3	NP_000227.2:p.(Val217Met)	NC_000015.9:g.58838015G>A	VUS	1 lab	8ab6881a82
12:21375305 SLCO1B1 T>TG	12	21375305	21375306	T	TG	SLCO1B1	c.1747+8dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375306dup	(Likely) benign	1 lab	8ab8637113
1:100661987 DBT GAA>G	1	100661987	100662015	GAA	G	DBT	c.1282-11_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662014_100662015del	(Likely) benign	1 lab	8ab9e70129
12:18496295 PIK3C2G G>C	12	18496295	18496295	G	C	PIK3C2G	c.1429+1G>C	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18496295G>C	VUS	1 lab	8abac01906
15:44865859 SPG11 G>A	15	44865859	44865859	G	A	SPG11	c.6091C>T	NM_025137.4	NP_079413.3:p.(Arg2031Ter)	NC_000015.9:g.44865859G>A	(Likely) pathogenic	1 lab	8abcfc9b92
19:11218182 LDLR A>G	19	11218182	11218182	A	G	LDLR	c.932A>G	NM_000527.5	NP_000518.1:p.(Lys311Arg)	NC_000019.9:g.11218182A>G	(Likely) pathogenic	1 lab	8abe48244d
2:206581033 NRP2 G>A	2	206581033	206581033	G	A	NRP2	c.368=	NM_201266.2	NP_957718.1:p.(Lys123=)	NC_000002.11:g.206581033G>A	(Likely) benign	1 lab	8abfb875d2
17:33433384 RAD51D G>A	17	33433384	33433384	G	A	RAD51D	c.576+21C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33433384G>A	(Likely) benign	1 lab	8ac1729454
15:48734033 FBN1 C>CT	15	48734033	48734034	C	CT	FBN1	c.6047dup	NM_000138.5	NP_000129.3:p.(Cys2017ValfsTer15)	NC_000015.9:g.48734034dup	(Likely) pathogenic	1 lab	8ac2834d94
17:80396462 MISSING Ref too long to show for this DEL>C	17	80396462	81041938	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.80396463_81041938del	(Likely) pathogenic	1 lab	8ac643f9cd
6:135621701 AHI1 GGAA>G	6	135621701	135621709	GGAA	G	AHI1	c.3427-8_3427-6del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135621707_135621709del	(Likely) benign	1 lab	8ac8817d4c
4:114278146 ANK2 C>T	4	114278146	114278146	C	T	ANK2	c.8372C>T	NM_001148.6	NP_001139.3:p.(Ser2791Leu)	NC_000004.11:g.114278146C>T	VUS	1 lab	8ac9680cc3
2:233194508 DIS3L2 A>C	2	233194508	233194508	A	C	DIS3L2	c.1740-15A>C	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233194508A>C	(Likely) benign	1 lab	8ac97380cd
6:119245024 MCM9 C>T	6	119245024	119245024	C	T	MCM9	c.573G>A	NM_017696.3	NP_060166.2:p.(Ser191=)	NC_000006.11:g.119245024C>T	(Likely) benign	1 lab	8acd58d5df
10:69954181 MYPN G>A	10	69954181	69954181	G	A	MYPN	c.2987G>A	NM_032578.4	NP_115967.2:p.(Arg996Gln)	NC_000010.10:g.69954181G>A	VUS	1 lab	8ad07229b4
2:215610577 BARD1 A>C	2	215610577	215610577	A	C	BARD1	c.1679T>G	NM_000465.4	NP_000456.2:p.(Met560Arg)	NC_000002.11:g.215610577A>C	VUS	1 lab	8ad1dd46ac
10:3815987 MISSING Ref too long to show for this DEL>A	10	3815987	3829500	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3815988_3829500del	VUS	1 lab	8ad702930c
15:65370110 KBTBD13 C>T	15	65370110	65370110	C	T	KBTBD13	c.957C>T	NM_001101362.3	NP_001094832.1:p.(Ala319=)	NC_000015.9:g.65370110C>T	(Likely) benign	1 lab	8ad835cafc
18:10731390 PIEZO2 C>G	18	10731390	10731390	C	G	PIEZO2	c.4855+15G>C	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10731390C>G	(Likely) benign	1 lab	8adb07f561
6:162683724 PRKN G>T	6	162683724	162683724	G	T	PRKN	c.245C>A	NM_013987.3	NP_054642.2:p.(Ala82Glu)	NC_000006.11:g.162683724G>T	(Likely) benign	1 lab	8adf3457c3
5:82817000 VCAN A>T	5	82817000	82817000	A	T	VCAN	c.2875A>T	NM_004385.5	NP_004376.2:p.(Ser959Cys)	NC_000005.9:g.82817000A>T	(Likely) benign	1 lab	8adfeec938
20:41480070 PTPRT T>Alt too long to show for this DUP	20	41480070	41532148	T	Alt too long to show for this DUP	PTPRT	c.89-17576_214+34376dup	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41480071_41532148dup	VUS	1 lab	8ae1a512b1
17:29587401 NF1 T>C	17	29587401	29587401	T	C	NF1	c.4445T>C	NM_001042492.3	NP_001035957.1:p.(Ile1482Thr)	NC_000017.10:g.29587401T>C	VUS	1 lab	8ae225e170
3:146234895 PLSCR1 A>G	3	146234895	146234895	A	G	PLSCR1	c.798T>C	NM_021105.3	NP_066928.1:p.(Ile266=)	NC_000003.11:g.146234895A>G	(Likely) benign	1 lab	8ae369cc7c
3:1288910 MISSING A>Alt too long to show for this DUP	3	1288910	1849338	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.1288912_1849338dup	VUS	1 lab	8ae3d57957
14:78082842 SPTLC2 G>A	14	78082842	78082842	G	A	SPTLC2	c.81C>T	NM_004863.4	NP_004854.1:p.(Asn27=)	NC_000014.8:g.78082842G>A	(Likely) benign	1 lab	8ae44baffe
6:7558448 DSP A>C	6	7558448	7558448	A	C	DSP	c.373A>C	NM_004415.4	NP_004406.2:p.(Ile125Leu)	NC_000006.11:g.7558448A>C	VUS	1 lab	8ae9295c89
3:50369556 RASSF1 G>C	3	50369556	50369556	G	C	RASSF1	c.387C>G	NM_007182.5	NP_009113.3:p.(Asp129Glu)	NC_000003.11:g.50369556G>C	(Likely) benign	1 lab	8ae99b7d4b
22:22997802 MISSING Ref too long to show for this DEL>G	22	22997802	23652513	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.22997804_23652513del	(Likely) pathogenic	1 lab	8aedbcbb9c
1:94495005 ABCA4 G>T	1	94495005	94495005	G	T	ABCA4	c.4535C>A	NM_000350.3	NP_000341.2:p.(Pro1512His)	NC_000001.10:g.94495005G>T	VUS	1 lab	8aeff925be
2:179643718 TTN G>A	2	179643718	179643718	G	A	TTN	c.4091C>T	NM_133378.4	NP_596869.4:p.(Ala1364Val)	NC_000002.11:g.179643718G>A	VUS	1 lab	8af8ed1feb
15:31229477 FAN1 A>G	15	31229477	31229477	A	G	FAN1	c.*3+15A>G	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31229477A>G	(Likely) benign	1 lab	8af9878432
17:45216168 CDC27 T>C	17	45216168	45216168	T	C	CDC27	c.1659A>G	NM_001114091.4	NP_001107563.1:p.(Gln553=)	NC_000017.10:g.45216168T>C	(Likely) benign	1 lab	8afbf75fd7
18:58038748 MC4R A>G	18	58038748	58038748	A	G	MC4R	c.835T>C	NM_005912.3	NP_005903.2:p.(Cys279Arg)	NC_000018.9:g.58038748A>G	(Likely) pathogenic	1 lab	8afdbd1f02
12:21349863 SLCO1B1 A>G	12	21349863	21349863	A	G	SLCO1B1	c.728-17A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21349863A>G	(Likely) benign	1 lab	8b00e32050
X:38146460 RPGR C>A	X	38146460	38146460	C	A	RPGR	c.1792G>T	NM_001034853.2	NP_001030025.1:p.(Gly598Ter)	NC_000023.10:g.38146460C>A	(Likely) pathogenic	1 lab	8b01a06d41
2:167056039 SCN9A G>A	2	167056039	167056039	G	A	SCN9A	c.5077C>T	NM_002977.3	NP_002968.1:p.(Leu1693=)	NC_000002.11:g.167056039G>A	(Likely) benign	1 lab	8b08a6c498
X:31164493 DMD G>A	X	31164493	31164493	G	A	DMD	c.10467C>T	NM_004010.3	NP_004001.1:p.(Ser3489=)	NC_000023.10:g.31164493G>A	(Likely) benign	1 lab	8b098f4a97
13:45980896 MISSING A>Alt too long to show for this DUP	13	45980896	46102891	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.45980898_46102891dup	VUS	1 lab	8b09a29d82
16:1412267 GNPTG G>A	16	1412267	1412267	G	A	GNPTG	c.472G>A	NM_032520.5	NP_115909.1:p.(Val158Ile)	NC_000016.9:g.1412267G>A	(Likely) benign	1 lab	8b0b6358be
2:179410605 TTN G>A	2	179410605	179410605	G	A	TTN	c.95358C>T	NM_001267550.2	NP_001254479.2:p.(Asn31786=)	NC_000002.11:g.179410605G>A	(Likely) benign	1 lab	8b0de20ad7
22:32797857 RTCB C>T	22	32797857	32797857	C	T	RTCB	c.374G>A	NM_014306.5	NP_055121.1:p.(Arg125His)	NC_000022.10:g.32797857C>T	(Likely) benign	1 lab	8b0f02c7cd
12:78340734 NAV3 A>Alt too long to show for this DUP	12	78340734	78350901	A	Alt too long to show for this DUP	NAV3	c.414+5822_415-9108dup	NM_001024383.2	NP_001019554.1:p.?	NC_000012.11:g.78340735_78350901dup	VUS	1 lab	8b119f2dfd
8:144295833 GPIHBP1 C>T	8	144295833	144295833	C	T	GPIHBP1	c.181+8C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295833C>T	(Likely) benign	1 lab	8b141a3f9e
9:137702077 COL5A1 C>G	9	137702077	137702077	C	G	COL5A1	c.3475-24C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137702077C>G	(Likely) benign	1 lab	8b15542df2
13:52548806 ATP7B C>T	13	52548806	52548806	C	T	ATP7B	c.550G>A	NM_000053.4	NP_000044.2:p.(Val184Ile)	NC_000013.10:g.52548806C>T	(Likely) benign	1 lab	8b18cfa450
2:179430662 TTN C>A	2	179430662	179430662	C	A	TTN	c.80197G>T	NM_001267550.2	NP_001254479.2:p.(Val26733Leu)	NC_000002.11:g.179430662C>A	VUS	1 lab	8b18ebcae6
16:1005018 LMF1 ATG>A	16	1005018	1005020	ATG	A	LMF1	c.-361-354_-361-353del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005019_1005020del	VUS	1 lab	8b1f2676a3
17:79514112 FAAP100 G>T	17	79514112	79514112	G	T	FAAP100	c.1996C>A	NM_025161.6	NP_079437.5:p.(Pro666Thr)	NC_000017.10:g.79514112G>T	(Likely) benign	1 lab	8b206f0165
9:2717797 KCNV2 G>A	9	2717797	2717797	G	A	KCNV2	c.58G>A	NM_133497.4	NP_598004.1:p.(Glu20Lys)	NC_000009.11:g.2717797G>A	(Likely) benign	1 lab	8b2153d14b
2:113331068 MISSING Ref too long to show for this DEL>T	2	113331068	113448008	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.113331071_113448008del	VUS	1 lab	8b2370b508
11:108122714 ATM G>T	11	108122714	108122714	G	T	ATM	c.1758G>T	NM_000051.4	NP_000042.3:p.(Glu586Asp)	NC_000011.9:g.108122714G>T	VUS	1 lab	8b24b5e73a
2:220500178 SLC4A3 C>T	2	220500178	220500178	C	T	SLC4A3	c.2013C>T	NM_201574.3	NP_963868.3:p.(Val671=)	NC_000002.11:g.220500178C>T	(Likely) benign	1 lab	8b28725759
19:55666113 TNNI3 G>A	19	55666113	55666113	G	A	TNNI3	c.368C>T	NM_000363.5	NP_000354.4:p.(Thr123Met)	NC_000019.9:g.55666113G>A	VUS	1 lab	8b287c5f38
2:21236176 APOB G>C	2	21236176	21236176	G	C	APOB	c.4072C>G	NM_000384.3	NP_000375.3:p.(Leu1358Val)	NC_000002.11:g.21236176G>C	VUS	1 lab	8b29e7e3a3
1:1397488 MISSING C>Alt too long to show for this DUP	1	1397488	1584119	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.1397491_1584119dup	VUS	1 lab	8b2d53ed48
2:44053504 ABCG5 C>T	2	44053504	44053504	C	T	ABCG5	c.774+17G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053504C>T	(Likely) benign	1 lab	8b2f813bb7
3:100962375 IMPG2 A>G	3	100962375	100962375	A	G	IMPG2	c.2800T>C	NM_016247.4	NP_057331.2:p.(Leu934=)	NC_000003.11:g.100962375A>G	(Likely) benign	1 lab	8b319445ac
10:126691617 CTBP2 C>T	10	126691617	126691617	C	T	CTBP2	c.1890G>A	NM_022802.3	NP_073713.2:p.(Glu630=)	NC_000010.10:g.126691617C>T	(Likely) benign	1 lab	8b32aafb68
14:102514209 DYNC1H1 C>T	14	102514209	102514209	C	T	DYNC1H1	c.13062C>T	NM_001376.5	NP_001367.2:p.(Asp4354=)	NC_000014.8:g.102514209C>T	(Likely) benign	1 lab	8b32da8b9a
10:69881820 MYPN T>G	10	69881820	69881820	T	G	MYPN	c.625T>G	NM_032578.4	NP_115967.2:p.(Ser209Ala)	NC_000010.10:g.69881820T>G	VUS	1 lab	8b332bd341
22:29092960 CHEK2 C>T	22	29092960	29092960	C	T	CHEK2	c.1024G>A	NM_007194.4	NP_009125.1:p.(Gly342Ser)	NC_000022.10:g.29092960C>T	VUS	1 lab	8b3338fe42
15:72641488 HEXA TAAG>T	15	72641488	72641496	TAAG	T	HEXA	c.915_917del	NM_000520.6	NP_000511.2:p.(Phe305del)	NC_000015.9:g.72641494_72641496del	(Likely) pathogenic	1 lab	8b34a3e673
1:11994929 PLOD1 C>T	1	11994929	11994929	C	T	PLOD1	c.76+17C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.11994929C>T	(Likely) benign	1 lab	8b358adc6a
12:66905796 GRIP1 Ref too long to show for this DEL>T	12	66905796	66922623	Ref too long to show for this DEL	T	GRIP1	c.502+988_724+3602del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66905797_66922623del	VUS	1 lab	8b37b216a1
19:11221334 LDLR A>G	19	11221334	11221334	A	G	LDLR	c.947A>G	NM_000527.5	NP_000518.1:p.(Asn316Ser)	NC_000019.9:g.11221334A>G	(Likely) pathogenic	1 lab	8b37e517eb
20:57466796 GNAS G>A	20	57466796	57466796	G	A	GNAS	c.15G>A	NM_001077488.5	NP_001070956.1:p.(Gly5=)	NC_000020.10:g.57466796G>A	(Likely) benign	1 lab	8b3aed7264
17:75495397 SEPTIN9 T>C	17	75495397	75495397	T	C	SEPTIN9	c.*657T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75495397T>C	(Likely) benign	1 lab	8b3b6afe9c
1:12066684 MFN2 C>T	1	12066684	12066684	C	T	MFN2	c.1806C>T	NM_014874.4	NP_055689.1:p.(Ser602=)	NC_000001.10:g.12066684C>T	(Likely) benign	1 lab	8b3c0ab47d
6:75892599 COL12A1 A>G	6	75892599	75892599	A	G	COL12A1	c.1891+167T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75892599A>G	(Likely) benign	1 lab	8b3e44c78d
16:56531002 BBS2 T>C	16	56531002	56531002	T	C	BBS2	c.1798-11A>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56531002T>C	(Likely) benign	1 lab	8b3f645702
2:219678751 CYP27A1 A>C	2	219678751	219678751	A	C	CYP27A1	c.1025A>C	NM_000784.4	NP_000775.1:p.(Asn342Thr)	NC_000002.11:g.219678751A>C	(Likely) pathogenic	1 lab	8b40f8675d
17:48272955 COL1A1 AG>A	17	48272955	48272961	AG	A	COL1A1	c.1127del	NM_000088.4	NP_000079.2:p.(Pro376LeufsTer165)	NC_000017.10:g.48272961del	(Likely) pathogenic	1 lab	8b41019760
X:70444009 GJB1 A>C	X	70444009	70444009	A	C	GJB1	c.452A>C	NM_000166.6	NP_000157.1:p.(Tyr151Ser)	NC_000023.10:g.70444009A>C	(Likely) pathogenic	1 lab	8b412d39ac
10:48388402 RBP3 A>G	10	48388402	48388402	A	G	RBP3	c.2476T>C	NM_002900.3	NP_002891.1:p.(Leu826=)	NC_000010.10:g.48388402A>G	(Likely) benign	1 lab	8b47a3bc31
3:179501746 MISSING G>Alt too long to show for this DUP	3	179501746	179553430	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.179501749_179553430dup	VUS	1 lab	8b47f208f7
15:48516959 MISSING T>Alt too long to show for this DUP	15	48516959	48618653	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.48516960_48618653dup	VUS	1 lab	8b49060dcb
2:44078850 ABCG8 C>A	2	44078850	44078850	C	A	ABCG8	c.450C>A	NM_022437.3	NP_071882.1:p.(His150Gln)	NC_000002.11:g.44078850C>A	VUS	1 lab	8b4de2cff2
7:3884269 SDK1 Ref too long to show for this DEL>T	7	3884269	3957023	Ref too long to show for this DEL	T	SDK1	c.847+23056_848-33532del	NM_152744.4	NP_689957.3:p.?	NC_000007.13:g.3884271_3957023del	VUS	1 lab	8b4e31d8a4
16:49670999 ZNF423 C>T	16	49670999	49670999	C	T	ZNF423	c.1884G>A	NM_001271620.2	NP_001258549.1:p.(Thr628=)	NC_000016.9:g.49670999C>T	(Likely) benign	1 lab	8b4f4dad59
12:977965 WNK1 T>A	12	977965	977965	T	A	WNK1	c.3073T>A	NM_001184985.2	NP_001171914.1:p.(Tyr1025Asn)	NC_000012.11:g.977965T>A	VUS	1 lab	8b519e9bac
2:44099365 ABCG8 C>T	2	44099365	44099365	C	T	ABCG8	c.1131C>T	NM_022437.3	NP_071882.1:p.(Ser377=)	NC_000002.11:g.44099365C>T	(Likely) benign	1 lab	8b542fb2dd
2:44099420 ABCG8 G>C	2	44099420	44099420	G	C	ABCG8	c.1186G>C	NM_022437.3	NP_071882.1:p.(Val396Leu)	NC_000002.11:g.44099420G>C	(Likely) benign	1 lab	8b54c643f7
8:19816774 LPL T>C	8	19816774	19816774	T	C	LPL	c.1022T>C	NM_000237.3	NP_000228.1:p.(Phe341Ser)	NC_000008.10:g.19816774T>C	VUS	1 lab	8b5514d61d
8:19805714 LPL G>A	8	19805714	19805714	G	A	LPL	c.112G>A	NM_000237.3	NP_000228.1:p.(Glu38Lys)	NC_000008.10:g.19805714G>A	VUS	1 lab	8b6083bf2e
9:107651526 ABCA1 A>G	9	107651526	107651526	A	G	ABCA1	c.67-50T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651526A>G	(Likely) benign	1 lab	8b6093eedf
19:17741071 UNC13A T>C	19	17741071	17741071	T	C	UNC13A	c.3552A>G	NM_001080421.3	NP_001073890.2:p.(Leu1184=)	NC_000019.9:g.17741071T>C	(Likely) benign	1 lab	8b62e23e68
7:21940624 DNAH11 G>A	7	21940624	21940624	G	A	DNAH11	c.13304-1G>A	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21940624G>A	(Likely) pathogenic	1 lab	8b63bf28d7
7:103155665 RELN C>T	7	103155665	103155665	C	T	RELN	c.8086G>A	NM_005045.4	NP_005036.2:p.(Ala2696Thr)	NC_000007.13:g.103155665C>T	(Likely) benign	1 lab	8b68f6b4f7
10:92675534 ANKRD1 C>T	10	92675534	92675534	C	T	ANKRD1	c.750+5G>A	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92675534C>T	VUS	1 lab	8b6e65d688
16:23635309 PALB2 C>T	16	23635309	23635309	C	T	PALB2	c.2834+21G>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23635309C>T	(Likely) benign	1 lab	8b719a5c12
9:16789274 MISSING G>Alt too long to show for this DUP	9	16789274	17344899	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.16789278_17344899dup	VUS	1 lab	8b7384bb93
9:451973 DOCK8 ATATATTTTTTTTTT>A	9	451973	451988	ATATATTTTTTTTTT	A	DOCK8	c.5962-36_5962-23del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451975_451988del	(Likely) benign	1 lab	8b758294ef
15:85401651 ALPK3 C>G	15	85401651	85401651	C	G	ALPK3	c.3682C>G	NM_020778.5	NP_065829.4:p.(Arg1228Gly)	NC_000015.9:g.85401651C>G	VUS	1 lab	8b76fd13a6
12:21329390 SLCO1B1 C>T	12	21329390	21329390	C	T	SLCO1B1	c.360-320C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329390C>T	(Likely) benign	1 lab	8b7b1772f4
21:47409676 COL6A1 G>T	21	47409676	47409676	G	T	COL6A1	c.914G>T	NM_001848.3	NP_001839.2:p.(Gly305Val)	NC_000021.8:g.47409676G>T	(Likely) pathogenic	1 lab	8b7e6c98c8
16:28884936 SH2B1 C>T	16	28884936	28884936	C	T	SH2B1	c.2066C>T	NM_001308293.2	NP_001295222.1:p.(Pro689Leu)	NC_000016.9:g.28884936C>T	VUS	1 lab	8b7ef81cfb
14:23282266 SLC7A7 G>A	14	23282266	23282266	G	A	SLC7A7	c.342C>T	NM_001126106.4	NP_001119578.1:p.(Phe114=)	NC_000014.8:g.23282266G>A	(Likely) benign	1 lab	8b807fd5c6
11:124007734 VWA5A C>T	11	124007734	124007734	C	T	VWA5A	c.1638C>T	NM_001130142.2	NP_001123614.1:p.(His546=)	NC_000011.9:g.124007734C>T	(Likely) benign	1 lab	8b81467767
X:41413089 CASK C>T	X	41413089	41413089	C	T	CASK	c.1922G>A	NM_003688.3	NP_003679.2:p.(Arg641Lys)	NC_000023.10:g.41413089C>T	(Likely) benign	1 lab	8b82442b53
2:96604625 MISSING Ref too long to show for this DEL>T	2	96604625	98118115	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.96604626_98118115del	(Likely) pathogenic	1 lab	8b842f6288
8:68049808 CSPP1 C>T	8	68049808	68049808	C	T	CSPP1	c.1048C>T	NM_001291339.2	NP_001278268.1:p.(Pro350Ser)	NC_000008.10:g.68049808C>T	VUS	1 lab	8b84da346c
20:10639019 JAG1 C>G	20	10639019	10639019	C	G	JAG1	c.694+97G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639019C>G	(Likely) benign	1 lab	8b869533df
2:220499233 SLC4A3 G>A	2	220499233	220499233	G	A	SLC4A3	c.1734G>A	NM_201574.3	NP_963868.3:p.(Pro578=)	NC_000002.11:g.220499233G>A	(Likely) benign	1 lab	8b9c458f41
5:127610100 FBN2 A>C	5	127610100	127610100	A	C	FBN2	c.7711+159T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127610100A>C	(Likely) benign	1 lab	8b906fe6cb
14:73653569 MISSING T>Alt too long to show for this DUP	14	73653569	73771401	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.73653570_73771401dup	VUS	1 lab	8b90a9abdc
2:96954984 SNRNP200 T>C	2	96954984	96954984	T	C	SNRNP200	c.3074A>G	NM_014014.5	NP_054733.2:p.(Lys1025Arg)	NC_000002.11:g.96954984T>C	VUS	1 lab	8b9402a868
20:49510641 ADNP A>AT	20	49510641	49510646	A	AT	ADNP	c.609dup	NM_001282531.3	NP_001269460.1:p.(Ser204IlefsTer17)	NC_000020.10:g.49510646dup	(Likely) pathogenic	1 lab	8b95070a6b
8:42977681 POMK C>T	8	42977681	42977681	C	T	POMK	c.714C>T	NM_032237.5	NP_115613.1:p.(Ser238=)	NC_000008.10:g.42977681C>T	(Likely) benign	1 lab	8b976aaaf8
12:32955630 PKP2 T>C	12	32955630	32955630	T	C	PKP2	c.2146-140A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955630T>C	(Likely) benign	1 lab	8b9805d646
12:117977585 KSR2 C>T	12	117977585	117977585	C	T	KSR2	c.1626G>A	NM_173598.6	NP_775869.4:p.(Pro542=)	NC_000012.11:g.117977585C>T	(Likely) benign	1 lab	8b98d57d75
12:21358944 SLCO1B1 T>TC	12	21358944	21358945	T	TC	SLCO1B1	c.1475dup	NM_006446.5	NP_006437.3:p.(Ser493LysfsTer4)	NC_000012.11:g.21358945dup	(Likely) benign	1 lab	8b997fa7e7
12:21353505 SLCO1B1 C>T	12	21353505	21353505	C	T	SLCO1B1	c.1034C>T	NM_006446.5	NP_006437.3:p.(Thr345Met)	NC_000012.11:g.21353505C>T	(Likely) benign	1 lab	8b9a68645a
4:15587818 CC2D2A G>A	4	15587818	15587818	G	A	CC2D2A	c.4014G>A	NM_001080522.2	NP_001073991.2:p.(Leu1338=)	NC_000004.11:g.15587818G>A	(Likely) benign	1 lab	8b9a891523
17:8925689 NTN1 G>A	17	8925689	8925689	G	A	NTN1	c.-2G>A	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.8925689G>A	(Likely) benign	1 lab	8b9b085b23
15:58834828 LIPC G>A	15	58834828	58834828	G	A	LIPC	c.552G>A	NM_000236.3	NP_000227.2:p.(Thr184=)	NC_000015.9:g.58834828G>A	(Likely) benign	1 lab	8b9ddfcaf6
6:80626571 ELOVL4 C>T	6	80626571	80626571	C	T	ELOVL4	c.699G>A	NM_022726.4	NP_073563.1:p.(Thr233=)	NC_000006.11:g.80626571C>T	(Likely) benign	1 lab	8ba03c1f6c
11:108106399 ATM G>A	11	108106399	108106399	G	A	ATM	c.334G>A	NM_000051.4	NP_000042.3:p.(Ala112Thr)	NC_000011.9:g.108106399G>A	(Likely) benign	1 lab	8ba0ade2fb
1:156834211 NTRK1 T>C	1	156834211	156834211	T	C	NTRK1	c.278T>C	NM_002529.4	NP_002520.2:p.(Leu93Pro)	NC_000001.10:g.156834211T>C	(Likely) pathogenic	1 lab	8ba29b128b
14:90458342 TDP1 T>G	14	90458342	90458342	T	G	TDP1	c.1433+15T>G	NM_018319.4	NP_060789.2:p.?	NC_000014.8:g.90458342T>G	(Likely) benign	1 lab	8ba6057782
X:153609172 EMD G>C	X	153609172	153609172	G	C	EMD	c.449+10G>C	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153609172G>C	(Likely) benign	1 lab	8ba7cc1c12
1:6527711 PLEKHG5 G>A	1	6527711	6527711	G	A	PLEKHG5	c.3012-79C>T	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6527711G>A	(Likely) benign	1 lab	8bae5b9231
11:116707401 APOA1 G>A	11	116707401	116707401	G	A	APOA1	c.-127-274C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707401G>A	(Likely) benign	1 lab	8bb28b5ea2
2:128015309 ERCC3 G>A	2	128015309	128015309	G	A	ERCC3	c.2218-6C>T	NM_000122.2	NP_000113.1:p.?	NC_000002.11:g.128015309G>A	(Likely) benign	1 lab	8bb2f93bd8
7:128496604 FLNC C>T	7	128496604	128496604	C	T	FLNC	c.7284C>T	NM_001458.5	NP_001449.3:p.(Ser2428=)	NC_000007.13:g.128496604C>T	(Likely) benign	1 lab	8bb4287e22
19:1621876 TCF3 TG>T	19	1621876	1621878	TG	T	TCF3	c.915del	NM_003200.5	NP_003191.1:p.(Ser306AlafsTer88)	NC_000019.9:g.1621878del	(Likely) pathogenic	1 lab	8bb5dbef41
10:112541460 RBM20 G>A	10	112541460	112541460	G	A	RBM20	c.1093G>A	NM_001134363.3	NP_001127835.2:p.(Gly365Arg)	NC_000010.10:g.112541460G>A	(Likely) benign	1 lab	8bb7558446
21:34066627 SYNJ1 G>GA	21	34066627	34066636	G	GA	SYNJ1	c.706-7dup	NM_203446.3	NP_982271.3:p.?	NC_000021.8:g.34066636dup	(Likely) benign	1 lab	8bbe6ba71b
2:27307407 EMILIN1 C>T	2	27307407	27307407	C	T	EMILIN1	c.2557+8C>T	NM_007046.4	NP_008977.1:p.?	NC_000002.11:g.27307407C>T	(Likely) benign	1 lab	8bc2e84708
2:179604912 TTN C>T	2	179604912	179604912	C	T	TTN	c.13048G>A	NM_001267550.2	NP_001254479.2:p.(Val4350Met)	NC_000002.11:g.179604912C>T	VUS	1 lab	8bc4c93949
9:107620871 ABCA1 G>A	9	107620871	107620871	G	A	ABCA1	c.652C>T	NM_005502.4	NP_005493.2:p.(Pro218Ser)	NC_000009.11:g.107620871G>A	VUS	1 lab	8bc784fba4
12:2224553 CACNA1C G>A	12	2224553	2224553	G	A	CACNA1C	c.213G>A	NM_199460.4	NP_955630.3:p.(Ala71=)	NC_000012.11:g.2224553G>A	(Likely) benign	1 lab	8bcab62f10
14:102482397 DYNC1H1 A>G	14	102482397	102482397	A	G	DYNC1H1	c.7447A>G	NM_001376.5	NP_001367.2:p.(Ile2483Val)	NC_000014.8:g.102482397A>G	VUS	1 lab	8bcc3edb85
9:107562285 ABCA1 C>G	9	107562285	107562285	C	G	ABCA1	c.4774-16G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562285C>G	(Likely) benign	1 lab	8bce533509
3:12571309 TSEN2 C>T	3	12571309	12571309	C	T	TSEN2	c.1185C>T	NM_025265.4	NP_079541.1:p.(Leu395=)	NC_000003.11:g.12571309C>T	(Likely) benign	1 lab	8bd336f248
5:37230974 CPLANE1 C>A	5	37230974	37230974	C	A	CPLANE1	c.1116G>T	NM_023073.4	NP_075561.3:p.(Thr372=)	NC_000005.9:g.37230974C>A	(Likely) benign	1 lab	8bd6facb7f
9:130230083 LRSAM1 C>T	9	130230083	130230083	C	T	LRSAM1	c.593C>T	NM_138361.5	NP_612370.3:p.(Ala198Val)	NC_000009.11:g.130230083C>T	VUS	1 lab	8bd769e872
16:1657271 IFT140 G>A	16	1657271	1657271	G	A	IFT140	c.-4C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1657271G>A	(Likely) benign	1 lab	8bdbd590e1
11:129788493 PRDM10 C>A	11	129788493	129788493	C	A	PRDM10	c.2167G>T	NM_020228.3	NP_064613.2:p.(Asp723Tyr)	NC_000011.9:g.129788493C>A	VUS	1 lab	8bdc7cab7c
X:129147808 BCORL1 T>C	X	129147808	129147808	T	C	BCORL1	c.1060T>C	NM_001184772.3	NP_001171701.1:p.(Ser354Pro)	NC_000023.10:g.129147808T>C	VUS	1 lab	8bdf56cb2b
2:21253285 APOB A>T	2	21253285	21253285	A	T	APOB	c.1353-398T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21253285A>T	(Likely) benign	1 lab	8be3fb66ba
6:32011248 TNXB C>T	6	32011248	32011248	C	T	TNXB	c.11610G>A	NM_019105.8	NP_061978.6:p.(Val3870=)	NC_000006.11:g.32011248C>T	(Likely) benign	1 lab	8be54a7a47
7:72726577 MISSING Ref too long to show for this DEL>G	7	72726577	74139390	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72726578_74139390del	(Likely) pathogenic	1 lab	8beb3c0056
2:21260964 APOB T>C	2	21260964	21260964	T	C	APOB	c.403A>G	NM_000384.3	NP_000375.3:p.(Ile135Val)	NC_000002.11:g.21260964T>C	(Likely) benign	1 lab	8bec1e1c89
8:52214685 MISSING Ref too long to show for this DEL>A	8	52214685	52381853	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.52214687_52381853del	VUS	1 lab	8bede4a103
2:114001986 PAX8 GGCT>G	2	114001986	114001992	GGCT	G	PAX8	c.389+15_389+17del	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.114001990_114001992del	(Likely) benign	1 lab	8bee848981
12:111352030 MYL2 G>T	12	111352030	111352030	G	T	MYL2	c.234C>A	NM_000432.4	NP_000423.2:p.(Asn78Lys)	NC_000012.11:g.111352030G>T	VUS	1 lab	8bf38213d9
6:126075709 HEY2 ATTT>A	6	126075709	126075724	ATTT	A	HEY2	c.328+30_328+32del	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075722_126075724del	(Likely) benign	1 lab	8bf6c71e47
6:64431067 EYS A>G	6	64431067	64431067	A	G	EYS	c.8923T>C	NM_001292009.2	NP_001278938.1:p.(Phe2975Leu)	NC_000006.11:g.64431067A>G	(Likely) benign	1 lab	8bfc6b9fe0
19:11200262 LDLR C>T	19	11200262	11200262	C	T	LDLR	c.38C>T	NM_000527.5	NP_000518.1:p.(Ala13Val)	NC_000019.9:g.11200262C>T	(Likely) benign	1 lab	8bff5e5781
15:48739022 FBN1 A>G	15	48739022	48739022	A	G	FBN1	c.5672-3T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48739022A>G	(Likely) benign	1 lab	8c059e07aa
19:55284986 KIR2DL1 C>G	19	55284986	55284986	C	G	KIR2DL1	c.272C>G	NM_014218.3	NP_055033.2:p.(Thr91Arg)	NC_000019.9:g.55284986C>G	(Likely) benign	1 lab	8c06b915dd
1:5935175 NPHP4 A>C	1	5935175	5935175	A	C	NPHP4	c.2818-15T>G	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5935175A>C	(Likely) benign	1 lab	8c135199e1
16:920003 LMF1 G>A	16	920003	920003	G	A	LMF1	c.1296C>T	NM_022773.4	NP_073610.2:p.(Pro432=)	NC_000016.9:g.920003G>A	(Likely) benign	1 lab	8c139834c0
22:50904445 SBF1 T>C	22	50904445	50904445	T	C	SBF1	c.956A>G	NM_002972.4	NP_002963.2:p.(His319Arg)	NC_000022.10:g.50904445T>C	VUS	1 lab	8c145f287f
19:44501395 ZNF155 G>A	19	44501395	44501395	G	A	ZNF155	c.1386G>A	NM_001260486.2	NP_001247415.2:p.(Gly462=)	NC_000019.9:g.44501395G>A	(Likely) benign	1 lab	8c194f7597
17:79817278 P4HB GA>G	17	79817278	79817279	GA	G	P4HB	c.146-16del	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79817279del	(Likely) benign	1 lab	8c1a484c05
12:124323081 DNAH10 G>A	12	124323081	124323081	G	A	DNAH10	c.4627G>A	NM_207437.3	NP_997320.2:p.(Val1543Ile)	NC_000012.11:g.124323081G>A	(Likely) benign	1 lab	8c1a48d5c8
X:32486610 DMD A>G	X	32486610	32486610	A	G	DMD	c.3162+5T>C	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32486610A>G	(Likely) benign	1 lab	8c1c34975e
2:44104764 ABCG8 G>A	2	44104764	44104764	G	A	ABCG8	c.1821G>A	NM_022437.3	NP_071882.1:p.(Gln607=)	NC_000002.11:g.44104764G>A	(Likely) benign	1 lab	8c1c566f4b
7:128482708 FLNC A>G	7	128482708	128482708	A	G	FLNC	c.2345A>G	NM_001458.5	NP_001449.3:p.(Asn782Ser)	NC_000007.13:g.128482708A>G	VUS	1 lab	8c1ceeb95e
6:123892104 TRDN C>T	6	123892104	123892104	C	T	TRDN	c.196G>A	NM_006073.4	NP_006064.2:p.(Val66Ile)	NC_000006.11:g.123892104C>T	VUS	1 lab	8c1f0c5b6b
1:25883728 LDLRAP1 C>T	1	25883728	25883728	C	T	LDLRAP1	c.429C>T	NM_015627.3	NP_056442.2:p.(Cys143=)	NC_000001.10:g.25883728C>T	(Likely) benign	1 lab	8c22140fde
8:144996111 PLEC C>T	8	144996111	144996111	C	T	PLEC	c.8289G>A	NM_201380.4	NP_958782.1:p.(Leu2763=)	NC_000008.10:g.144996111C>T	(Likely) benign	1 lab	8c258c8b98
15:85383207 ALPK3 C>T	15	85383207	85383207	C	T	ALPK3	c.697C>T	NM_020778.5	NP_065829.4:p.(Pro233Ser)	NC_000015.9:g.85383207C>T	VUS	1 lab	8c29d29163
3:100961660 IMPG2 A>T	3	100961660	100961660	A	T	IMPG2	c.2894T>A	NM_016247.4	NP_057331.2:p.(Met965Lys)	NC_000003.11:g.100961660A>T	VUS	1 lab	8c2b588ac0
1:10363753 KIF1B A>G	1	10363753	10363753	A	G	KIF1B	c.2510A>G	NM_183416.4	NP_904325.2:p.(Asn837Ser)	NC_000001.10:g.10363753A>G	VUS	1 lab	8c30464961
17:48270360 COL1A1 C>T	17	48270360	48270360	C	T	COL1A1	c.1816G>A	NM_000088.4	NP_000079.2:p.(Ala606Thr)	NC_000017.10:g.48270360C>T	VUS	1 lab	8c30784d01
5:59284478 PDE4D G>T	5	59284478	59284478	G	T	PDE4D	c.109C>A	NM_001165899.2	NP_001159371.1:p.(Leu37Ile)	NC_000005.9:g.59284478G>T	(Likely) benign	1 lab	8c31491bd3
11:1956104 TNNT3 T>C	11	1956104	1956104	T	C	TNNT3	c.612T>C	NM_001297646.2	NP_001284575.1:p.(Ile204=)	NC_000011.9:g.1956104T>C	(Likely) benign	1 lab	8c31bc09ef
2:21265278 APOB G>A	2	21265278	21265278	G	A	APOB	c.192C>T	NM_000384.3	NP_000375.3:p.(Val64=)	NC_000002.11:g.21265278G>A	(Likely) benign	1 lab	8c32d03564
11:121456920 SORL1 T>C	11	121456920	121456920	T	C	SORL1	c.3707-11T>C	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121456920T>C	(Likely) benign	1 lab	8c343b1248
19:54631528 PRPF31 G>A	19	54631528	54631528	G	A	PRPF31	c.1026G>A	NM_015629.4	NP_056444.3:p.(Pro342=)	NC_000019.9:g.54631528G>A	(Likely) benign	1 lab	8c35f2a557
22:21465661 MISSING Ref too long to show for this DEL>A	22	21465661	23666232	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21465662_23666232del	(Likely) pathogenic	1 lab	8c363847ac
1:12059100 MFN2 T>C	1	12059100	12059100	T	C	MFN2	c.764T>C	NM_014874.4	NP_055689.1:p.(Ile255Thr)	NC_000001.10:g.12059100T>C	VUS	1 lab	8c7dbc0767
8:19813598 LPL G>C	8	19813598	19813598	G	C	LPL	c.1018+4G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813598G>C	(Likely) benign	1 lab	8c4205b8fb
X:73811761 RLIM G>T	X	73811761	73811761	G	T	RLIM	c.1389C>A	NM_183353.3	NP_899196.1:p.(Ser463=)	NC_000023.10:g.73811761G>T	(Likely) benign	1 lab	8c42c3043d
12:49432408 KMT2D CACTT>C	12	49432408	49432414	CACTT	C	KMT2D	c.8727_8730del	NM_003482.4	NP_003473.3:p.(Ser2910ArgfsTer32)	NC_000012.11:g.49432411_49432414del	(Likely) pathogenic	1 lab	8c4a964ce8
5:80057321 MSH3 A>C	5	80057321	80057321	A	C	MSH3	c.1764-44A>C	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80057321A>C	(Likely) benign	1 lab	8c4b2654ab
2:21228819 APOB A>G	2	21228819	21228819	A	G	APOB	c.10921T>C	NM_000384.3	NP_000375.3:p.(Ser3641Pro)	NC_000002.11:g.21228819A>G	VUS	1 lab	8c4fc7f3ef
10:92675587 ANKRD1 G>A	10	92675587	92675587	G	A	ANKRD1	c.702C>T	NM_014391.3	NP_055206.2:p.(Cys234=)	NC_000010.10:g.92675587G>A	(Likely) benign	1 lab	8c5859797d
7:120428732 TSPAN12 G>T	7	120428732	120428732	G	T	TSPAN12	c.832C>A	NM_012338.4	NP_036470.1:p.(Leu278Met)	NC_000007.13:g.120428732G>T	(Likely) benign	1 lab	8c5e0188f7
14:101335312 MISSING Ref too long to show for this DEL>T	14	101335312	107285441	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.101335317_107285441del	(Likely) pathogenic	1 lab	8c5e446869
15:91556937 VPS33B G>T	15	91556937	91556937	G	T	VPS33B	c.357+97C>A	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91556937G>T	(Likely) benign	1 lab	8c625a6df3
15:22910852 MISSING G>Alt too long to show for this DUP	15	22910852	23066837	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22910853_23066837dup	VUS	1 lab	8c6a9bce9d
6:124633286 NKAIN2 T>Alt too long to show for this DUP	6	124633286	124663941	T	Alt too long to show for this DUP	NKAIN2	c.192+29000_193-12472dup	NM_001040214.3	NP_001035304.1:p.?	NC_000006.11:g.124633288_124663941dup	VUS	1 lab	8c6e71d63b
17:16720870 MISSING Ref too long to show for this DEL>C	17	16720870	20434018	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.16720871_20434018del	(Likely) pathogenic	1 lab	8c733541ae
18:25572600 CDH2 T>C	18	25572600	25572600	T	C	CDH2	c.1344+19A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25572600T>C	(Likely) benign	1 lab	8c75f8c8d8
3:49698498 BSN G>A	3	49698498	49698498	G	A	BSN	c.9220G>A	NM_003458.4	NP_003449.2:p.(Gly3074Arg)	NC_000003.11:g.49698498G>A	(Likely) benign	1 lab	8c7717fd52
1:3347610 PRDM16 CGAGGATGAG>C	1	3347610	3347631	CGAGGATGAG	C	PRDM16	c.3472_3480del	NM_022114.4	NP_071397.3:p.(Asp1158_Glu1160del)	NC_000001.10:g.3347623_3347631del	VUS	1 lab	8c7a7c1594
8:19809279 LPL G>C	8	19809279	19809279	G	C	LPL	c.250-1G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809279G>C	(Likely) pathogenic	1 lab	8c7d59db0e
17:18700260 MISSING C>Alt too long to show for this DUP	17	18700260	18910225	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.18700261_18910225dup	VUS	1 lab	8c7df14dc1
8:59409297 CYP7A1 G>A	8	59409297	59409297	G	A	CYP7A1	c.774C>T	NM_000780.4	NP_000771.2:p.(Ser258=)	NC_000008.10:g.59409297G>A	(Likely) benign	1 lab	8c7df3a51c
1:12294245 VPS13D T>C	1	12294245	12294245	T	C	VPS13D	c.-76-3T>C	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12294245T>C	(Likely) benign	1 lab	8c7f2ea150
21:22387649 MISSING A>Alt too long to show for this DUP	21	22387649	23230547	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.22387650_23230547dup	VUS	1 lab	8c8065979c
6:32012987 TNXB A>G	6	32012987	32012987	A	G	TNXB	c.10717T>C	NM_019105.8	NP_061978.6:p.(Ser3573Pro)	NC_000006.11:g.32012987A>G	(Likely) benign	1 lab	8c862a0ca6
19:47259238 FKRP G>A	19	47259238	47259238	G	A	FKRP	c.531G>A	NM_024301.5	NP_077277.1:p.(Glu177=)	NC_000019.9:g.47259238G>A	(Likely) benign	1 lab	8c87e7adf8
2:44104837 ABCG8 G>C	2	44104837	44104837	G	C	ABCG8	c.1884+10G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104837G>C	(Likely) benign	1 lab	8c88c21548
5:147812971 FBXO38 T>C	5	147812971	147812971	T	C	FBXO38	c.2429-16T>C	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147812971T>C	(Likely) benign	1 lab	8c8a2a7ecf
22:50682879 TUBGCP6 T>C	22	50682879	50682879	T	C	TUBGCP6	c.10A>G	NM_020461.4	NP_065194.3:p.(Ile4Val)	NC_000022.10:g.50682879T>C	(Likely) benign	1 lab	8c8aa6c385
10:92678748 ANKRD1 A>AATAAAT	10	92678748	92678752	A	AATAAAT	ANKRD1	c.346-20_346-19insATTTAT	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678751_92678752insAATATA	(Likely) benign	1 lab	8c8bf6327c
2:105979907 FHL2 T>G	2	105979907	105979907	T	G	FHL2	c.199A>C	NM_001318899.2	NP_001305828.1:p.(Thr67Pro)	NC_000002.11:g.105979907T>G	VUS	1 lab	8c8fa4087f
2:179396160 TTN G>A	2	179396160	179396160	G	A	TTN	c.105182C>T	NM_001267550.2	NP_001254479.2:p.(Ala35061Val)	NC_000002.11:g.179396160G>A	VUS	1 lab	8c8fbffa8e
14:67298944 GPHN A>Alt too long to show for this DUP	14	67298944	67379096	A	Alt too long to show for this DUP	GPHN	c.294+7662_390-3624dup	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67298946_67379096dup	VUS	1 lab	8c99754935
17:72256327 TTYH2 C>T	17	72256327	72256327	C	T	TTYH2	c.1584C>T	NM_032646.6	NP_116035.5:p.(Tyr528=)	NC_000017.10:g.72256327C>T	(Likely) benign	1 lab	8c9dbd03e4
13:114325970 GRK1 C>T	13	114325970	114325970	C	T	GRK1	c.984C>T	NM_002929.3	NP_002920.1:p.(Asp328=)	NC_000013.10:g.114325970C>T	(Likely) benign	1 lab	8c9e9abcac
17:34425362 MISSING C>Alt too long to show for this DUP	17	34425362	34471148	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.34425363_34471148dup	(Likely) benign	1 lab	8c9ef824c6
8:19796579 LPL A>C	8	19796579	19796579	A	C	LPL				NC_000008.10:g.19796579A>C	VUS	1 lab	8cac4ea9c6
8:106372750 ZFPM2 Ref too long to show for this DEL>T	8	106372750	106417183	Ref too long to show for this DEL	T	ZFPM2	c.40+41542_41-14189del	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106372751_106417183del	VUS	1 lab	8cac53efc0
17:7755302 KDM6B ACAT>A	17	7755302	7755307	ACAT	A	KDM6B	c.4202_4204del	NM_001080424.2	NP_001073893.1:p.(Ile1401del)	NC_000017.10:g.7755305_7755307del	VUS	1 lab	8cb06dff38
18:2705700 SMCHD1 A>G	18	2705700	2705700	A	G	SMCHD1	c.1851A>G	NM_015295.3	NP_056110.2:p.(Thr617=)	NC_000018.9:g.2705700A>G	(Likely) benign	1 lab	8cb0962eb8
20:57485837 GNAS C>T	20	57485837	57485837	C	T	GNAS	c.3067C>T	NM_080425.4	NP_536350.2:p.(Arg1023Cys)	NC_000020.10:g.57485837C>T	VUS	1 lab	8cb0f6775c
6:71596865 MISSING T>Alt too long to show for this DUP	6	71596865	71915311	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.71596866_71915311dup	VUS	1 lab	8cb289f450
19:54631728 PRPF31 G>A	19	54631728	54631728	G	A	PRPF31	c.1122G>A	NM_015629.4	NP_056444.3:p.(Gln374=)	NC_000019.9:g.54631728G>A	(Likely) benign	1 lab	8cb2ac6c38
5:127599477 FBN2 C>T	5	127599477	127599477	C	T	FBN2	c.7961-129G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127599477C>T	(Likely) benign	1 lab	8cb515c3ae
15:91166888 CRTC3 Ref too long to show for this DEL>C	15	91166888	91182610	Ref too long to show for this DEL	C	CRTC3	c.750-2119_1548+563del	NM_022769.5	NP_073606.3:p.?	NC_000015.9:g.91166889_91182610del	VUS	1 lab	8cb99f4167
5:73187871 ARHGEF28 A>G	5	73187871	73187871	A	G	ARHGEF28	c.3388-6A>G	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73187871A>G	(Likely) benign	1 lab	8cba645b23
14:45650670 FANCM C>T	14	45650670	45650670	C	T	FANCM	c.4260C>T	NM_020937.4	NP_065988.1:p.(Asp1420=)	NC_000014.8:g.45650670C>T	(Likely) benign	1 lab	8cbac2eead
X:62926189 ARHGEF9 C>T	X	62926189	62926189	C	T	ARHGEF9	c.330G>A	NM_015185.3	NP_056000.1:p.(Glu110=)	NC_000023.10:g.62926189C>T	(Likely) benign	1 lab	8cbbe9d010
16:57984323 CNGB1 A>G	16	57984323	57984323	A	G	CNGB1	c.996T>C	NM_001297.5	NP_001288.3:p.(Ala332=)	NC_000016.9:g.57984323A>G	(Likely) benign	1 lab	8cbfb3db90
X:117775232 DOCK11 A>G	X	117775232	117775232	A	G	DOCK11	c.4224A>G	NM_144658.4	NP_653259.3:p.(Val1408=)	NC_000023.10:g.117775232A>G	(Likely) benign	1 lab	8cbfb58ef2
20:34099360 CEP250 C>A	20	34099360	34099360	C	A	CEP250	c.7234C>A	NM_007186.6	NP_009117.2:p.(Arg2412Ser)	NC_000020.10:g.34099360C>A	(Likely) benign	1 lab	8cc50e02e7
6:65761864 EYS T>Alt too long to show for this DUP	6	65761864	65854649	T	Alt too long to show for this DUP	EYS	c.2024-87029_2137+5642dup	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65761865_65854649dup	VUS	1 lab	8cc5ed2ded
14:45633736 FANCM G>C	14	45633736	45633736	G	C	FANCM	c.1756G>C	NM_020937.4	NP_065988.1:p.(Val586Leu)	NC_000014.8:g.45633736G>C	VUS	1 lab	8ccc7362fc
2:179605136 TTN A>T	2	179605136	179605136	A	T	TTN	c.12824T>A	NM_001267550.2	NP_001254479.2:p.(Leu4275His)	NC_000002.11:g.179605136A>T	VUS	1 lab	8cce985e5e
19:55341658 KIR3DL1 C>T	19	55341658	55341658	C	T	KIR3DL1	c.1263C>T	NM_013289.3	NP_037421.2:p.(Pro421=)	NC_000019.9:g.55341658C>T	(Likely) benign	1 lab	8cd0697523
6:84799081 MRAP2 C>G	6	84799081	84799081	C	G	MRAP2	c.499C>G	NM_138409.4	NP_612418.2:p.(Pro167Ala)	NC_000006.11:g.84799081C>G	VUS	1 lab	8cd3c27089
11:85365314 TMEM126A C>T	11	85365314	85365314	C	T	TMEM126A	c.280+14C>T	NM_032273.4	NP_115649.1:p.?	NC_000011.9:g.85365314C>T	(Likely) benign	1 lab	8cd46004b1
2:241685241 KIF1A G>A	2	241685241	241685241	G	A	KIF1A	c.3288C>T	NM_001244008.2	NP_001230937.1:p.(Arg1096=)	NC_000002.11:g.241685241G>A	(Likely) benign	1 lab	8cd4aacb52
2:179395049 TTN A>G	2	179395049	179395049	A	G	TTN	c.106293T>C	NM_001267550.2	NP_001254479.2:p.(Val35431=)	NC_000002.11:g.179395049A>G	(Likely) benign	1 lab	8cd600cb60
11:47364715 MYBPC3 G>T	11	47364715	47364715	G	T	MYBPC3	c.1227-19C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364715G>T	VUS	1 lab	8cd6c4b343
9:107624123 ABCA1 C>CA	9	107624123	107624138	C	CA	ABCA1	c.422-43dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624138dup	(Likely) benign	1 lab	8ce46621f8
9:137694796 COL5A1 C>CG	9	137694796	137694798	C	CG	COL5A1	c.3071dup	NM_000093.5	NP_000084.3:p.(Glu1025Ter)	NC_000009.11:g.137694798dup	(Likely) pathogenic	1 lab	8ce486a617
5:149495482 PDGFRB G>A	5	149495482	149495482	G	A	PDGFRB	c.3165C>T	NM_002609.4	NP_002600.1:p.(Ser1055=)	NC_000005.9:g.149495482G>A	(Likely) benign	1 lab	8ce6962255
4:176209600 MISSING Ref too long to show for this DEL>T	4	176209600	176587694	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.176209602_176587694del	VUS	1 lab	8ce8840e0a
15:48726665 FBN1 C>T	15	48726665	48726665	C	T	FBN1	c.6616+126G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48726665C>T	(Likely) benign	1 lab	8ce8e07b0a
1:120612040 NOTCH2 T>TCCTCCTCCG	1	120612040	120612043	T	TCCTCCTCCG	NOTCH2	c.-21_-20insCGGAGGAGG	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612042_120612043insTCCTCCGCC	(Likely) benign	1 lab	8ceb2ab8e1
15:72855527 ARIH1 G>A	15	72855527	72855527	G	A	ARIH1	c.805-208G>A	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72855527G>A	(Likely) benign	1 lab	8cebc07570
3:37574951 ITGA9 G>A	3	37574951	37574951	G	A	ITGA9	c.1520G>A	NM_002207.3	NP_002198.2:p.(Gly507Glu)	NC_000003.11:g.37574951G>A	(Likely) benign	1 lab	8cec340132
7:104753252 KMT2E T>C	7	104753252	104753252	T	C	KMT2E	c.5049T>C	NM_182931.3	NP_891847.1:p.(Pro1683=)	NC_000007.13:g.104753252T>C	(Likely) benign	1 lab	8cecae1ba6
12:32994009 PKP2 A>G	12	32994009	32994009	A	G	PKP2	c.1641T>C	NM_004572.4	NP_004563.2:p.(Asn547=)	NC_000012.11:g.32994009A>G	(Likely) benign	1 lab	8ced4f8a54
15:65917220 SLC24A1 G>A	15	65917220	65917220	G	A	SLC24A1	c.802G>A	NM_004727.3	NP_004718.1:p.(Val268Ile)	NC_000015.9:g.65917220G>A	(Likely) benign	1 lab	8cee1424c2
22:42575696 TCF20 A>C	22	42575696	42575696	A	C	TCF20	c.5668T>G	NM_005650.4	NP_005641.1:p.(Cys1890Gly)	NC_000022.10:g.42575696A>C	(Likely) pathogenic	1 lab	8cee838582
17:1565195 PRPF8 T>A	17	1565195	1565195	T	A	PRPF8	c.4022+5A>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1565195T>A	(Likely) benign	1 lab	8ceedc058e
2:74185270 DGUOK T>C	2	74185270	74185270	T	C	DGUOK	c.708-3T>C	NM_080916.3	NP_550438.1:p.?	NC_000002.11:g.74185270T>C	(Likely) benign	1 lab	8cefa00f30
11:70506009 SHANK2 A>G	11	70506009	70506009	A	G	SHANK2	c.221T>C	NM_133266.5	NP_573573.2:p.(Leu74Pro)	NC_000011.9:g.70506009A>G	VUS	1 lab	8cf0bb7b54
X:41332969 NYX T>G	X	41332969	41332969	T	G	NYX	c.263T>G	NM_022567.2	NP_072089.1:p.(Leu88Trp)	NC_000023.10:g.41332969T>G	(Likely) pathogenic	1 lab	8cf0bc9862
6:65300498 EYS C>T	6	65300498	65300498	C	T	EYS	c.5262G>A	NM_001292009.2	NP_001278938.1:p.(Pro1754=)	NC_000006.11:g.65300498C>T	(Likely) benign	1 lab	8cf1bbfd03
5:14508471 TRIO T>C	5	14508471	14508471	T	C	TRIO	c.9234T>C	NM_007118.4	NP_009049.2:p.(Asp3078=)	NC_000005.9:g.14508471T>C	(Likely) benign	1 lab	8cf47633d0
X:114863890 PLS3 C>T	X	114863890	114863890	C	T	PLS3	c.367+251C>T	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114863890C>T	(Likely) benign	1 lab	8cf51b9e6d
2:238303764 COL6A3 G>A	2	238303764	238303764	G	A	COL6A3	c.175C>T	NM_004369.4	NP_004360.2:p.(Arg59Ter)	NC_000002.11:g.238303764G>A	(Likely) pathogenic	1 lab	8cf5c9293b
10:55566323 PCDH15 T>G	10	55566323	55566323	T	G	PCDH15	c.*16A>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55566323T>G	(Likely) benign	1 lab	8cfb145bc7
16:1003986 LMF1 C>CACGG	16	1003986	1003989	C	CACGG	LMF1	c.-52+370_-52+371insCCGT	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003988_1003989insGGAC	(Likely) benign	1 lab	8cfb7e5c73
2:56145020 EFEMP1 G>A	2	56145020	56145020	G	A	EFEMP1	c.297C>T	NM_001039348.3	NP_001034437.1:p.(Thr99=)	NC_000002.11:g.56145020G>A	(Likely) benign	1 lab	8cfba24108
15:58833786 LIPC A>G	15	58833786	58833786	A	G	LIPC	c.274-198A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58833786A>G	(Likely) benign	1 lab	8cfbbe5a31
3:53700373 CACNA1D A>G	3	53700373	53700373	A	G	CACNA1D	c.927A>G	NM_000720.4	NP_000711.1:p.(Val309=)	NC_000003.11:g.53700373A>G	(Likely) benign	1 lab	8cfc4ed817
7:154672672 DPP6 G>A	7	154672672	154672672	G	A	DPP6	c.2133+20G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154672672G>A	(Likely) benign	1 lab	8cfd45a570
1:181767511 CACNA1E C>T	1	181767511	181767511	C	T	CACNA1E	c.6354C>T	NM_000721.4	NP_000712.2:p.(Pro2118=)	NC_000001.10:g.181767511C>T	(Likely) benign	1 lab	8cfda6b675
8:6420296 ANGPT2 G>A	8	6420296	6420296	G	A	ANGPT2	c.160C>T	NM_001147.3	NP_001138.1:p.(Arg54Cys)	NC_000008.10:g.6420296G>A	VUS	1 lab	8d0372082b
4:8869597 HMX1 G>A	4	8869597	8869597	G	A	HMX1	c.869C>T	NM_018942.3	NP_061815.2:p.(Pro290Leu)	NC_000004.11:g.8869597G>A	VUS	1 lab	8d0455c4a9
3:119361415 POPDC2 A>G	3	119361415	119361415	A	G	POPDC2	c.*44-7T>C	NM_001369919.2	NP_001356848.1:p.?	NC_000003.11:g.119361415A>G	(Likely) benign	1 lab	8d0915fb6c
14:35193312 MISSING G>Alt too long to show for this DUP	14	35193312	35252952	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.35193314_35252952dup	VUS	1 lab	8d0b26b61c
9:133914593 LAMC3 G>A	9	133914593	133914593	G	A	LAMC3	c.1241G>A	NM_006059.4	NP_006050.3:p.(Arg414His)	NC_000009.11:g.133914593G>A	VUS	1 lab	8d0b340133
9:107620387 ABCA1 C>T	9	107620387	107620387	C	T	ABCA1	c.720+416G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620387C>T	(Likely) benign	1 lab	8d0be5794c
9:79322336 PRUNE2 A>T	9	79322336	79322336	A	T	PRUNE2	c.4854T>A	NM_015225.3	NP_056040.2:p.(Thr1618=)	NC_000009.11:g.79322336A>T	(Likely) benign	1 lab	8d104a024b
4:114276910 ANK2 C>A	4	114276910	114276910	C	A	ANK2	c.7136C>A	NM_001148.6	NP_001139.3:p.(Thr2379Lys)	NC_000004.11:g.114276910C>A	VUS	1 lab	8d10f218e3
17:79508395 FAAP100 C>G	17	79508395	79508395	C	G	FAAP100	c.2454G>C	NM_025161.6	NP_079437.5:p.(Gln818His)	NC_000017.10:g.79508395C>G	(Likely) benign	1 lab	8d12c1f6d7
19:11200514 LDLR C>T	19	11200514	11200514	C	T	LDLR	c.67+223C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200514C>T	(Likely) benign	1 lab	8d13563149
1:55529200 PCSK9 C>T	1	55529200	55529200	C	T	PCSK9	c.2022C>T	NM_174936.4	NP_777596.2:p.(Ala674=)	NC_000001.10:g.55529200C>T	(Likely) benign	1 lab	8d1380b493
4:170077834 SH3RF1 T>TA	4	170077834	170077844	T	TA	SH3RF1	c.394-5dup	NM_020870.4	NP_065921.2:p.?	NC_000004.11:g.170077844dup	(Likely) benign	1 lab	8d161de0e6
2:44102319 ABCG8 T>C	2	44102319	44102319	T	C	ABCG8	c.1523T>C	NM_022437.3	NP_071882.1:p.(Ile508Thr)	NC_000002.11:g.44102319T>C	(Likely) benign	1 lab	8d193e83a6
4:6303328 WFS1 G>T	4	6303328	6303328	G	T	WFS1	c.1806G>T	NM_006005.3	NP_005996.2:p.(Ala602=)	NC_000004.11:g.6303328G>T	(Likely) benign	1 lab	8d1c1c8af8
16:2106616 TSC2 C>T	16	2106616	2106616	C	T	TSC2	c.649-29C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2106616C>T	(Likely) benign	1 lab	8d1dd60dd3
8:59404071 CYP7A1 T>C	8	59404071	59404071	T	C	CYP7A1	c.1478A>G	NM_000780.4	NP_000771.2:p.(Asn493Ser)	NC_000008.10:g.59404071T>C	VUS	1 lab	8d1df40b48
3:123458839 MYLK G>A	3	123458839	123458839	G	A	MYLK	c.383C>T	NM_053025.4	NP_444253.3:p.(Ala128Val)	NC_000003.11:g.123458839G>A	(Likely) benign	1 lab	8d1fc29f9a
14:29237143 FOXG1 G>T	14	29237143	29237143	G	T	FOXG1	c.658G>T	NM_005249.5	NP_005240.3:p.(Glu220Ter)	NC_000014.8:g.29237143G>T	(Likely) pathogenic	1 lab	8d223aab46
2:231363252 SP100 T>TA	2	231363252	231363265	T	TA	SP100	c.1720+15dup	NM_001080391.2	NP_001073860.1:p.?	NC_000002.11:g.231363265dup	(Likely) benign	1 lab	8d25e8a6f4
X:84286921 MISSING T>Alt too long to show for this DUP	X	84286921	84602104	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.84286922_84602104dup	VUS	1 lab	8d28f1be37
8:30948417 WRN T>C	8	30948417	30948417	T	C	WRN	c.1788T>C	NM_000553.6	NP_000544.2:p.(Ser596=)	NC_000008.10:g.30948417T>C	(Likely) benign	1 lab	8d29f6b191
13:39262986 FREM2 C>T	13	39262986	39262986	C	T	FREM2	c.1505C>T	NM_207361.6	NP_997244.4:p.(Ser502Phe)	NC_000013.10:g.39262986C>T	VUS	1 lab	8d2e598cf3
1:110607517 ALX3 TCTC>T	1	110607517	110607523	TCTC	T	ALX3	c.283_285del	NM_006492.3	NP_006483.2:p.(Glu95del)	NC_000001.10:g.110607521_110607523del	VUS	1 lab	8d3063a9a7
2:179547517 TTN C>T	2	179547517	179547517	C	T	TTN	c.33001G>A	NM_001267550.2	NP_001254479.2:p.(Glu11001Lys)	NC_000002.11:g.179547517C>T	VUS	1 lab	8d318dc29a
6:168800885 MISSING Ref too long to show for this DEL>G	6	168800885	168880058	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.168800887_168880058del	VUS	1 lab	8d3206c9b8
7:150648217 KCNH2 G>A	7	150648217	150648217	G	A	KCNH2	c.1946-9C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150648217G>A	(Likely) benign	1 lab	8d34eec78d
22:26937327 TPST2 C>G	22	26937327	26937327	C	G	TPST2	c.270G>C	NM_001008566.3	NP_001008566.1:p.(Ala90=)	NC_000022.10:g.26937327C>G	(Likely) benign	1 lab	8d358227a5
18:60299564 MISSING C>Alt too long to show for this DUP	18	60299564	60546991	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.60299565_60546991dup	VUS	1 lab	8d375d90bb
16:81410904 GAN G>T	16	81410904	81410904	G	T	GAN	c.1583G>T	NM_022041.4	NP_071324.1:p.(Ser528Ile)	NC_000016.9:g.81410904G>T	VUS	1 lab	8d38508bdb
2:179631200 TTN C>T	2	179631200	179631200	C	T	TTN	c.9611G>A	NM_001267550.2	NP_001254479.2:p.(Arg3204Gln)	NC_000002.11:g.179631200C>T	VUS	1 lab	8d3900e909
2:27682225 IFT172 G>A	2	27682225	27682225	G	A	IFT172	c.2787+20C>T	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27682225G>A	(Likely) benign	1 lab	8d3e072f3c
9:111692163 ELP1 G>A	9	111692163	111692163	G	A	ELP1	c.189C>T	NM_003640.5	NP_003631.2:p.(Leu63=)	NC_000009.11:g.111692163G>A	(Likely) benign	1 lab	8d41ec2727
X:134292178 CT55 G>A	X	134292178	134292178	G	A	CT55	c.483C>T	NM_017863.2	NP_060333.1:p.(Ile161=)	NC_000023.10:g.134292178G>A	(Likely) benign	1 lab	8d434d7fe3
1:103468356 COL11A1 A>G	1	103468356	103468356	A	G	COL11A1	c.2035-9T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103468356A>G	(Likely) benign	1 lab	8d45e3ecaf
5:16616950 RETREG1 G>A	5	16616950	16616950	G	A	RETREG1	c.131C>T	NM_001034850.3	NP_001030022.1:p.(Ala44Val)	NC_000005.9:g.16616950G>A	VUS	1 lab	8d47b6d266
15:86169074 MISSING A>Alt too long to show for this DUP	15	86169074	86323092	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.86169078_86323092dup	VUS	1 lab	8d4a00fe41
12:33049444 PKP2 G>A	12	33049444	33049444	G	A	PKP2	c.222C>T	NM_004572.4	NP_004563.2:p.(Asn74=)	NC_000012.11:g.33049444G>A	(Likely) benign	1 lab	8d4e4af215
2:27680548 IFT172 C>T	2	27680548	27680548	C	T	IFT172	c.3186G>A	NM_015662.3	NP_056477.1:p.(Val1062=)	NC_000002.11:g.27680548C>T	(Likely) benign	1 lab	8d4fcfaa99
12:125284665 SCARB1 C>T	12	125284665	125284665	C	T	SCARB1	c.1128+5G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125284665C>T	VUS	1 lab	8d53d42f52
8:59404944 CYP7A1 G>T	8	59404944	59404944	G	T	CYP7A1	c.1183C>A	NM_000780.4	NP_000771.2:p.(His395Asn)	NC_000008.10:g.59404944G>T	VUS	1 lab	8d57aa83e1
3:100963303 IMPG2 G>A	3	100963303	100963303	G	A	IMPG2	c.1872C>T	NM_016247.4	NP_057331.2:p.(Ser624=)	NC_000003.11:g.100963303G>A	(Likely) benign	1 lab	8d59cc5f1f
15:58840749 LIPC G>A	15	58840749	58840749	G	A	LIPC	c.1029G>A	NM_000236.3	NP_000227.2:p.(Thr343=)	NC_000015.9:g.58840749G>A	(Likely) benign	1 lab	8d5a4a142f
20:10629012 JAG1 A>G	20	10629012	10629012	A	G	JAG1	c.1569+185T>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629012A>G	(Likely) benign	1 lab	8d5c207ed6
11:132150215 NTM Ref too long to show for this DEL>A	11	132150215	132164642	Ref too long to show for this DEL	A	NTM	c.527-27366_527-12941del	NM_001352005.2	NP_001338934.1:p.?	NC_000011.9:g.132150217_132164642del	VUS	1 lab	8d5d372703
11:71939905 INPPL1 C>G	11	71939905	71939905	C	G	INPPL1	c.518+14C>G	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71939905C>G	(Likely) benign	1 lab	8d5df1ab09
15:71507377 THSD4 C>T	15	71507377	71507377	C	T	THSD4	c.103C>T	NM_024817.2	NP_079093.2:p.(Pro35Ser)	NC_000015.9:g.71507377C>T	(Likely) benign	1 lab	8d6001ece8
X:154948100 MISSING Ref too long to show for this DEL>A	X	154948100	155232907	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.154948101_155232907del	(Likely) pathogenic	1 lab	8d60877896
17:1675303 SERPINF1 G>A	17	1675303	1675303	G	A	SERPINF1	c.577G>A	NM_002615.7	NP_002606.3:p.(Ala193Thr)	NC_000017.10:g.1675303G>A	(Likely) benign	1 lab	8d620f465d
17:63530032 AXIN2 A>G	17	63530032	63530032	A	G	AXIN2	c.2403T>C	NM_004655.4	NP_004646.3:p.(Tyr801=)	NC_000017.10:g.63530032A>G	(Likely) benign	1 lab	8d63d2f2aa
6:75839966 COL12A1 C>A	6	75839966	75839966	C	A	COL12A1	c.6068-17G>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75839966C>A	(Likely) benign	1 lab	8d651aa69c
15:44912619 SPG11 C>A	15	44912619	44912619	C	A	SPG11	c.2621-18G>T	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44912619C>A	(Likely) benign	1 lab	8d66bd73a8
14:50811739 MISSING T>Alt too long to show for this DUP	14	50811739	51032358	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.50811740_51032358dup	VUS	1 lab	8d674bc091
2:220337719 SPEG C>T	2	220337719	220337719	C	T	SPEG	c.4048C>T	NM_005876.5	NP_005867.3:p.(Arg1350Cys)	NC_000002.11:g.220337719C>T	VUS	1 lab	8d67a794a6
15:30893541 MISSING Ref too long to show for this DEL>T	15	30893541	32616998	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30893542_32616998del	(Likely) pathogenic	1 lab	8d67c03394
3:129251598 RHO A>T	3	129251598	129251598	A	T	RHO	c.919A>T	NM_000539.3	NP_000530.1:p.(Ile307Phe)	NC_000003.11:g.129251598A>T	(Likely) benign	1 lab	8d68675582
15:34628646 SLC12A6 C>T	15	34628646	34628646	C	T	SLC12A6	c.236G>A	NM_133647.2	NP_598408.1:p.(Ser79Asn)	NC_000015.9:g.34628646C>T	VUS	1 lab	8d696b31a2
13:52549078 ATP7B A>C	13	52549078	52549078	A	C	ATP7B	c.278T>G	NM_000053.4	NP_000044.2:p.(Leu93Arg)	NC_000013.10:g.52549078A>C	(Likely) benign	1 lab	8d69f4d2f9
6:42147061 GUCA1ANB-GUCA1A C>T	6	42147061	42147061	C	T	GUCA1ANB-GUCA1A	c.526C>T	NM_000409.5	NP_000400.2:p.(Leu176Phe)	NC_000006.11:g.42147061C>T	(Likely) pathogenic	1 lab	8d6cf02214
1:211836849 NEK2 A>G	1	211836849	211836849	A	G	NEK2	c.1257T>C	NM_002497.4	NP_002488.1:p.(Ala419=)	NC_000001.10:g.211836849A>G	(Likely) benign	1 lab	8d6d21cbab
9:107586819 ABCA1 G>A	9	107586819	107586819	G	A	ABCA1	c.2583C>T	NM_005502.4	NP_005493.2:p.(Thr861=)	NC_000009.11:g.107586819G>A	(Likely) benign	1 lab	8d6e0ce586
7:11156190 MISSING Ref too long to show for this DEL>A	7	11156190	11562684	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.11156193_11562684del	VUS	1 lab	8d730daacb
10:64966357 JMJD1C T>C	10	64966357	64966357	T	C	JMJD1C	c.5072A>G	NM_032776.3	NP_116165.1:p.(Asn1691Ser)	NC_000010.10:g.64966357T>C	VUS	1 lab	8d78458b1a
4:65165679 TECRL A>G	4	65165679	65165679	A	G	TECRL	c.774+13T>C	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65165679A>G	(Likely) benign	1 lab	8d797a7f47
22:40676273 MISSING A>Alt too long to show for this DUP	22	40676273	40864848	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.40676274_40864848dup	VUS	1 lab	8d7a0200f9
8:10469501 RP1L1 G>C	8	10469501	10469501	G	C	RP1L1	c.2107C>G	NM_178857.6	NP_849188.4:p.(Arg703Gly)	NC_000008.10:g.10469501G>C	(Likely) benign	1 lab	8d7c687af3
1:161277049 MPZ G>C	1	161277049	161277049	G	C	MPZ	c.233C>G	NM_000530.8	NP_000521.2:p.(Ser78Trp)	NC_000001.10:g.161277049G>C	(Likely) pathogenic	1 lab	8d7dcfa71b
3:53529192 CACNA1D G>GGAT	3	53529192	53529215	G	GGAT	CACNA1D	c.20_22dup	NM_000720.4	NP_000711.1:p.(Met7dup)	NC_000003.11:g.53529213_53529215dup	(Likely) benign	1 lab	8d7e7effbc
1:235543478 TBCE GT>G	1	235543478	235543479	GT	G	TBCE	c.100+15del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543479del	(Likely) benign	1 lab	8d80a4b1c2
16:56996158 CETP T>C	16	56996158	56996158	T	C	CETP	c.118+149T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996158T>C	(Likely) benign	1 lab	8d84d8c70d
9:139393598 NOTCH1 G>A	9	139393598	139393598	G	A	NOTCH1	c.6048C>T	NM_017617.5	NP_060087.3:p.(Asn2016=)	NC_000009.11:g.139393598G>A	(Likely) benign	1 lab	8d85e41c46
16:57012175 CETP G>A	16	57012175	57012175	G	A	CETP	c.1146+8G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012175G>A	(Likely) benign	1 lab	8d8623a0f3
3:176765306 TBL1XR1 T>C	3	176765306	176765306	T	C	TBL1XR1	c.734A>G	NM_024665.7	NP_078941.2:p.(Tyr245Cys)	NC_000003.11:g.176765306T>C	(Likely) pathogenic	1 lab	8d89f08a86
2:219674376 CYP27A1 C>G	2	219674376	219674376	C	G	CYP27A1	c.332C>G	NM_000784.4	NP_000775.1:p.(Ala111Gly)	NC_000002.11:g.219674376C>G	VUS	1 lab	8d8c31917a
2:179453501 TTN CA>C	2	179453501	179453504	CA	C	TTN	c.62950del	NM_001267550.2	NP_001254479.2:p.(Trp20984GlyfsTer12)	NC_000002.11:g.179453504del	(Likely) pathogenic	1 lab	8d99fb1617
7:6821032 RSPH10B2 C>T	7	6821032	6821032	C	T	RSPH10B2	c.1683C>T	NM_001099697.1	NP_001093167.1:p.(Leu561=)	NC_000007.13:g.6821032C>T	(Likely) benign	1 lab	8d9ca7ca18
4:168115173 MISSING A>Alt too long to show for this DUP	4	168115173	168169515	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.168115175_168169515dup	VUS	1 lab	8d9d78f85c
11:108225624 ATM CTT>C	11	108225624	108225627	CTT	C	ATM	c.8850+25_8850+26del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225626_108225627del	(Likely) benign	1 lab	8d9ded28eb
17:80544082 FOXK2 C>T	17	80544082	80544082	C	T	FOXK2	c.1576+6C>T	NM_004514.4	NP_004505.2:p.?	NC_000017.10:g.80544082C>T	(Likely) benign	1 lab	8d9eb2a469
14:22022238 MISSING Ref too long to show for this DEL>G	14	22022238	22072335	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.22022241_22072335del	VUS	1 lab	8da0fb3934
3:38597264 SCN5A G>A	3	38597264	38597264	G	A	SCN5A	c.4438-13C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597264G>A	(Likely) benign	1 lab	8da3308f64
2:179614082 TTN G>T	2	179614082	179614082	G	T	TTN	c.13045C>A	NM_133379.5	NP_596870.2:p.(Pro4349Thr)	NC_000002.11:g.179614082G>T	(Likely) benign	1 lab	8da3da45a2
12:125296451 SCARB1 T>C	12	125296451	125296451	T	C	SCARB1	c.691A>G	NM_001367981.1	NP_001354910.1:p.(Ile231Val)	NC_000012.11:g.125296451T>C	(Likely) benign	1 lab	8da65a91c2
2:21250734 APOB G>C	2	21250734	21250734	G	C	APOB	c.2033C>G	NM_000384.3	NP_000375.3:p.(Thr678Ser)	NC_000002.11:g.21250734G>C	(Likely) benign	1 lab	8da825b618
2:138374006 MISSING Ref too long to show for this DEL>T	2	138374006	140780219	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.138374009_140780219del	VUS	1 lab	8da8d2ccc1
19:11234006 LDLR C>T	19	11234006	11234006	C	T	LDLR	c.2297C>T	NM_000527.5	NP_000518.1:p.(Thr766Ile)	NC_000019.9:g.11234006C>T	VUS	1 lab	8dacae128f
6:32557461 HLA-DRB1 A>G	6	32557461	32557461	A	G	HLA-DRB1	c.59T>C	NM_002124.4	NP_002115.2:p.(Met20Thr)	NC_000006.11:g.32557461A>G	(Likely) benign	1 lab	8db36bf711
X:39922854 BCOR C>G	X	39922854	39922854	C	G	BCOR	c.3847+7G>C	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39922854C>G	(Likely) benign	1 lab	8db467524f
8:158047 MISSING Ref too long to show for this DEL>C	8	158047	6999220	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158048_6999220del	(Likely) pathogenic	1 lab	8db74b5d4b
9:79981685 VPS13A A>G	9	79981685	79981685	A	G	VPS13A	c.8368A>G	NM_033305.3	NP_150648.2:p.(Lys2790Glu)	NC_000009.11:g.79981685A>G	(Likely) benign	1 lab	8db854323c
1:63063224 ANGPTL3 A>C	1	63063224	63063224	A	C	ANGPTL3	c.-14A>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63063224A>C	(Likely) benign	1 lab	8db8d857fe
13:100637700 ZIC2 C>CCAGCGGCGGCGG	13	100637700	100637725	C	CCAGCGGCGGCGG	ZIC2	c.1377_1388dup	NM_007129.5	NP_009060.2:p.(Ala467_Ala470dup)	NC_000013.10:g.100637714_100637725dup	VUS	1 lab	8db986564a
4:39924372 PDS5A T>TAA	4	39924372	39924388	T	TAA	PDS5A	c.528-6_528-5dup	NM_001100399.2	NP_001093869.1:p.?	NC_000004.11:g.39924387_39924388dup	(Likely) benign	1 lab	8dbd0f5359
15:85401729 ALPK3 G>A	15	85401729	85401729	G	A	ALPK3	c.3760G>A	NM_020778.5	NP_065829.4:p.(Asp1254Asn)	NC_000015.9:g.85401729G>A	VUS	1 lab	8dbdac7c83
9:34990774 DNAJB5 T>G	9	34990774	34990774	T	G	DNAJB5	c.147T>G	NM_001135005.3	NP_001128477.1:p.(Leu49=)	NC_000009.11:g.34990774T>G	(Likely) benign	1 lab	8dc04eaece
9:107555451 ABCA1 C>G	9	107555451	107555451	C	G	ABCA1	c.5636+1G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555451C>G	(Likely) pathogenic	1 lab	8dc8e078cf
17:11950227 MISSING Ref too long to show for this DEL>T	17	11950227	12078399	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.11950228_12078399del	VUS	1 lab	8dca137b51
15:48718019 FBN1 C>G	15	48718019	48718019	C	G	FBN1	c.7247G>C	NM_000138.5	NP_000129.3:p.(Gly2416Ala)	NC_000015.9:g.48718019C>G	VUS	1 lab	8dcbdbfdb9
10:90982271 LIPA G>A	10	90982271	90982271	G	A	LIPA	c.891C>T	NM_000235.4	NP_000226.2:p.(Ser297=)	NC_000010.10:g.90982271G>A	(Likely) benign	1 lab	8dcd43ed1d
7:6505754 KDELR2 G>A	7	6505754	6505754	G	A	KDELR2	c.552C>T	NM_006854.4	NP_006845.1:p.(Gly184=)	NC_000007.13:g.6505754G>A	(Likely) benign	1 lab	8dcdf41f9f
11:299291 IFITM5 G>A	11	299291	299291	G	A	IFITM5	c.186+14C>T	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.299291G>A	(Likely) benign	1 lab	8dcf2eb9a0
18:44771869 SKOR2 C>T	18	44771869	44771869	C	T	SKOR2	c.2677G>A	NM_001278063.4	NP_001264992.1:p.(Asp893Asn)	NC_000018.9:g.44771869C>T	(Likely) benign	1 lab	8dd310f182
1:63063509 ANGPTL3 A>G	1	63063509	63063509	A	G	ANGPTL3	c.272A>G	NM_014495.4	NP_055310.1:p.(Glu91Gly)	NC_000001.10:g.63063509A>G	VUS	1 lab	8dd9280ca2
12:21294574 SLCO1B1 A>T	12	21294574	21294574	A	T	SLCO1B1	c.66A>T	NM_006446.5	NP_006437.3:p.(Arg22Ser)	NC_000012.11:g.21294574A>T	(Likely) benign	1 lab	8dde2291b8
X:8597746 ANOS1 T>Alt too long to show for this DUP	X	8597746	8703030	T	Alt too long to show for this DUP	ANOS1				NC_000023.10:g.8597748_8703030dup	VUS	1 lab	8ddee5a920
2:179483542 TTN C>T	2	179483542	179483542	C	T	TTN	c.46735G>A	NM_001267550.2	NP_001254479.2:p.(Val15579Ile)	NC_000002.11:g.179483542C>T	VUS	1 lab	8de0f4d17b
16:1005384 LMF1 C>T	16	1005384	1005384	C	T	LMF1	c.-361-718G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005384C>T	(Likely) benign	1 lab	8de27c13a5
16:68715012 CDH3 C>T	16	68715012	68715012	C	T	CDH3	c.996+13C>T	NM_001793.6	NP_001784.2:p.?	NC_000016.9:g.68715012C>T	(Likely) benign	1 lab	8de77cc67e
10:68359434 CTNNA3 Ref too long to show for this DEL>G	10	68359434	68666316	Ref too long to show for this DEL	G	CTNNA3	c.1048-131032_1374+22015del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68359437_68666316del	VUS	1 lab	8ded6b20a4
2:202625905 ALS2 T>C	2	202625905	202625905	T	C	ALS2	c.812A>G	NM_020919.4	NP_065970.2:p.(His271Arg)	NC_000002.11:g.202625905T>C	(Likely) benign	1 lab	8deeba4ceb
2:8106068 MISSING Ref too long to show for this DEL>C	2	8106068	8190493	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.8106069_8190493del	VUS	1 lab	8def63eb6a
5:112175607 APC C>G	5	112175607	112175607	C	G	APC	c.4316C>G	NM_000038.6	NP_000029.2:p.(Pro1439Arg)	NC_000005.9:g.112175607C>G	(Likely) benign	1 lab	8df1c9f147
2:220500209 SLC4A3 C>T	2	220500209	220500209	C	T	SLC4A3	c.2044C>T	NM_001326559.2	NP_001313488.2:p.(Pro682Ser)	NC_000002.11:g.220500209C>T	VUS	1 lab	8df2df524c
16:57012027 CETP G>T	16	57012027	57012027	G	T	CETP	c.1006G>T	NM_000078.3	NP_000069.2:p.(Ala336Ser)	NC_000016.9:g.57012027G>T	VUS	1 lab	8df5524567
9:107647220 ABCA1 C>T	9	107647220	107647220	C	T	ABCA1	c.161-371G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647220C>T	(Likely) benign	1 lab	8dfda9d3bd
2:219677281 CYP27A1 G>A	2	219677281	219677281	G	A	CYP27A1	c.653G>A	NM_000784.4	NP_000775.1:p.(Cys218Tyr)	NC_000002.11:g.219677281G>A	VUS	1 lab	8dfe6d8c62
15:63353977 TPM1 A>G	15	63353977	63353977	A	G	TPM1	c.629A>G	NM_001365776.1	NP_001352705.1:p.(Gln210Arg)	NC_000015.9:g.63353977A>G	VUS	1 lab	8dff527259
X:46918356 JADE3 T>C	X	46918356	46918356	T	C	JADE3	c.2349T>C	NM_014735.5	NP_055550.1:p.(Asn783=)	NC_000023.10:g.46918356T>C	(Likely) benign	1 lab	8e05dc2317
2:179597744 TTN T>G	2	179597744	179597744	T	G	TTN	c.16159A>C	NM_001267550.2	NP_001254479.2:p.(Arg5387=)	NC_000002.11:g.179597744T>G	(Likely) benign	1 lab	8e06eb7d16
X:43702951 MAOB G>T	X	43702951	43702951	G	T	MAOB	c.106C>A	NM_000898.5	NP_000889.3:p.(Arg36=)	NC_000023.10:g.43702951G>T	(Likely) benign	1 lab	8e0a7b51a5
2:179393581 TTN C>T	2	179393581	179393581	C	T	TTN	c.106897G>A	NM_001267550.2	NP_001254479.2:p.(Ala35633Thr)	NC_000002.11:g.179393581C>T	VUS	1 lab	8e0b314025
19:11223663 LDLR CT>C	19	11223663	11223685	CT	C	LDLR	c.1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223685del	(Likely) benign	1 lab	8e10b0da7e
19:38959613 RYR1 G>A	19	38959613	38959613	G	A	RYR1	c.3389G>A	NM_000540.3	NP_000531.2:p.(Arg1130His)	NC_000019.9:g.38959613G>A	VUS	1 lab	8e1246173e
3:38647876 SCN5A G>C	3	38647876	38647876	G	C	SCN5A	c.1141-237C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647876G>C	(Likely) benign	1 lab	8e1a0063b8
11:65639792 EFEMP2 G>A	11	65639792	65639792	G	A	EFEMP2	c.34C>T	NM_016938.5	NP_058634.4:p.(Leu12=)	NC_000011.9:g.65639792G>A	(Likely) benign	1 lab	8e219f3781
2:166847807 SCN1A A>G	2	166847807	166847807	A	G	SCN1A	c.5978T>C	NM_001202435.3	NP_001189364.1:p.(Ile1993Thr)	NC_000002.11:g.166847807A>G	(Likely) benign	1 lab	8e222e1c13
16:57185755 MISSING T>Alt too long to show for this DUP	16	57185755	57463517	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.57185757_57463517dup	VUS	1 lab	8e230355c2
6:110048489 FIG4 C>CT	6	110048489	110048500	C	CT	FIG4	c.446+32dup	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110048500dup	(Likely) benign	1 lab	8e25240221
3:50685355 MAPKAPK3 C>T	3	50685355	50685355	C	T	MAPKAPK3	c.1027C>T	NM_001243926.2	NP_001230855.1:p.(Arg343Trp)	NC_000003.11:g.50685355C>T	VUS	1 lab	8e2772e8af
5:138160453 CTNNA1 G>A	5	138160453	138160453	G	A	CTNNA1	c.823G>A	NM_001903.5	NP_001894.2:p.(Gly275Arg)	NC_000005.9:g.138160453G>A	VUS	1 lab	8e29b6ce06
2:21225234 APOB G>C	2	21225234	21225234	G	C	APOB	c.13060C>G	NM_000384.3	NP_000375.3:p.(Leu4354Val)	NC_000002.11:g.21225234G>C	VUS	1 lab	8e2b941aaa
1:66064414 LEPR G>C	1	66064414	66064414	G	C	LEPR	c.921G>C	NM_001003679.3	NP_001003679.1:p.(Gln307His)	NC_000001.10:g.66064414G>C	VUS	1 lab	8e32d62753
12:2802012 MISSING A>Alt too long to show for this DUP	12	2802012	2835549	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.2802013_2835549dup	VUS	1 lab	8e3353d814
13:32899325 BRCA2 T>G	13	32899325	32899325	T	G	BRCA2	c.425+4T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32899325T>G	VUS	1 lab	8e34205c61
18:29104559 DSG2 T>C	18	29104559	29104559	T	C	DSG2	c.828+11T>C	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29104559T>C	(Likely) benign	1 lab	8e380c989e
17:48263283 COL1A1 G>T	17	48263283	48263283	G	T	COL1A1	c.4104C>A	NM_000088.4	NP_000079.2:p.(Tyr1368Ter)	NC_000017.10:g.48263283G>T	(Likely) pathogenic	1 lab	8e38ac1ab0
8:82603894 MISSING G>Alt too long to show for this DUP	8	82603894	83195786	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.82603895_83195786dup	VUS	1 lab	8e405f9eab
19:2248152 SF3A2 T>TGGAGTCCACCCTCCAGCCCCC	19	2248152	2248175	T	TGGAGTCCACCCTCCAGCCCCC	SF3A2	c.1005_1025dup	NM_007165.5	NP_009096.2:p.(Ala361_Pro367dup)	NC_000019.9:g.2248155_2248175dup	(Likely) benign	1 lab	8e40eec435
X:70443787 GJB1 G>C	X	70443787	70443787	G	C	GJB1	c.230G>C	NM_000166.6	NP_000157.1:p.(Trp77Ser)	NC_000023.10:g.70443787G>C	(Likely) pathogenic	1 lab	8e44ee536a
15:73635795 HCN4 C>T	15	73635795	73635795	C	T	HCN4	c.1140G>A	NM_005477.3	NP_005468.1:p.(Thr380=)	NC_000015.9:g.73635795C>T	(Likely) benign	1 lab	8e48515011
2:220496994 SLC4A3 A>G	2	220496994	220496994	A	G	SLC4A3	c.1052A>G	NM_001326559.2	NP_001313488.2:p.(Glu351Gly)	NC_000002.11:g.220496994A>G	VUS	1 lab	8e49321020
2:179659673 TTN C>T	2	179659673	179659673	C	T	TTN	c.1221G>A	NM_001267550.2	NP_001254479.2:p.(Glu407=)	NC_000002.11:g.179659673C>T	(Likely) benign	1 lab	8e49482200
3:37067095 MLH1 ATATATT>A	3	37067095	37067102	ATATATT	A	MLH1	c.1039-31_1039-26del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067102del	(Likely) benign	1 lab	8e49f29424
20:10629386 JAG1 G>A	20	10629386	10629386	G	A	JAG1	c.1396-16C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629386G>A	(Likely) benign	1 lab	8e4a48bd8f
16:89345823 ANKRD11 TC>T	16	89345823	89345825	TC	T	ANKRD11	c.7126del	NM_013275.6	NP_037407.4:p.(Asp2376ThrfsTer25)	NC_000016.9:g.89345825del	(Likely) pathogenic	1 lab	8e4a8e6e19
1:181767565 CACNA1E G>A	1	181767565	181767565	G	A	CACNA1E	c.6408G>A	NM_000721.4	NP_000712.2:p.(Ala2136=)	NC_000001.10:g.181767565G>A	(Likely) benign	1 lab	8e5394c112
22:40758976 ADSL G>C	22	40758976	40758976	G	C	ADSL	c.1011-9G>C	NM_000026.4	NP_000017.1:p.?	NC_000022.10:g.40758976G>C	(Likely) benign	1 lab	8e557763ad
6:79656529 PHIP T>C	6	79656529	79656529	T	C	PHIP	c.4269A>G	NM_017934.7	NP_060404.4:p.(Ser1423=)	NC_000006.11:g.79656529T>C	(Likely) benign	1 lab	8e5579829c
1:55521905 PCSK9 GA>G	1	55521905	55521906	GA	G	PCSK9	c.996+44del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521906del	(Likely) benign	1 lab	8e5986f90a
7:33376092 BBS9 T>A	7	33376092	33376092	T	A	BBS9	c.1056T>A	NM_198428.3	NP_940820.1:p.(Gly352=)	NC_000007.13:g.33376092T>A	(Likely) benign	1 lab	8e5b225cad
18:47101856 LIPG T>C	18	47101856	47101856	T	C	LIPG	c.689T>C	NM_006033.4	NP_006024.1:p.(Ile230Thr)	NC_000018.9:g.47101856T>C	VUS	1 lab	8fba5b9008
17:57718708 MISSING C>Alt too long to show for this DUP	17	57718708	57779373	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.57718711_57779373dup	VUS	1 lab	8e5d8790a6
7:70254858 AUTS2 GAGA>G	7	70254858	70254863	GAGA	G	AUTS2	c.2587_2589del	NM_001127231.3	NP_001120703.1:p.(Lys863del)	NC_000007.13:g.70254861_70254863del	VUS	1 lab	8e5e439925
6:16131260 MYLIP GAA>G	6	16131260	16131279	GAA	G	MYLIP	c.278+300_278+301del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131278_16131279del	(Likely) benign	1 lab	8e5ebdee84
16:29656481 MISSING Ref too long to show for this DEL>A	16	29656481	30197489	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29656483_30197489del	(Likely) pathogenic	1 lab	8e640f7380
9:134395522 POMT1 C>G	9	134395522	134395522	C	G	POMT1	c.1706C>G	NM_007171.4	NP_009102.4:p.(Pro569Arg)	NC_000009.11:g.134395522C>G	VUS	1 lab	8e64b5ee3b
17:10552930 MYH3 A>ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATG	17	10552930	10552931	A	ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATG	MYH3	c.605_606insCATCCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA	NM_002470.4	NP_002461.2:p.(Gly203IlefsTer77)	NC_000017.10:g.10552930_10552931insTGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGGGTATGAGGTGTAGGGACAGAGGAGGGATG	(Likely) benign	1 lab	8e65eaca14
15:85402989 ALPK3 A>G	15	85402989	85402989	A	G	ALPK3	c.3966-18A>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402989A>G	(Likely) benign	1 lab	8e661b4972
9:130221313 LRSAM1 C>T	9	130221313	130221313	C	T	LRSAM1	c.284C>T	NM_138361.5	NP_612370.3:p.(Ala95Val)	NC_000009.11:g.130221313C>T	VUS	1 lab	8e661cd55d
2:73677839 ALMS1 G>A	2	73677839	73677839	G	A	ALMS1	c.4188G>A	NM_015120.4	NP_055935.4:p.(Ser1396=)	NC_000002.11:g.73677839G>A	(Likely) benign	1 lab	8e6724adb5
7:128482852 FLNC C>T	7	128482852	128482852	C	T	FLNC	c.2394C>T	NM_001458.5	NP_001449.3:p.(Asp798=)	NC_000007.13:g.128482852C>T	(Likely) benign	1 lab	8e6a910fae
4:100503100 MTTP T>C	4	100503100	100503100	T	C	MTTP	c.100T>C	NM_000253.4	NP_000244.2:p.(Tyr34His)	NC_000004.11:g.100503100T>C	VUS	1 lab	8e6c69cf20
7:51092938 COBL T>G	7	51092938	51092938	T	G	COBL	c.3636A>C	NM_015198.5	NP_056013.2:p.(Pro1212=)	NC_000007.13:g.51092938T>G	(Likely) benign	1 lab	8e6e31543a
16:90001998 TUBB3 G>C	16	90001998	90001998	G	C	TUBB3	c.923G>C	NM_001197181.2	NP_001184110.1:p.(Arg308Pro)	NC_000016.9:g.90001998G>C	(Likely) pathogenic	1 lab	8e7282bd88
2:43793963 THADA T>TA	2	43793963	43793979	T	TA	THADA	c.2188-4dup	NM_001083953.2	NP_001077422.1:p.?	NC_000002.11:g.43793979dup	(Likely) benign	1 lab	8e7446c95f
19:11228157 LDLR C>T	19	11228157	11228157	C	T	LDLR	c.1845+483C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228157C>T	(Likely) benign	1 lab	8e778129dd
4:652824 PDE6B G>A	4	652824	652824	G	A	PDE6B	c.1467+18G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.652824G>A	(Likely) benign	1 lab	8e78335053
2:96952585 SNRNP200 G>T	2	96952585	96952585	G	T	SNRNP200	c.3670C>A	NM_014014.5	NP_054733.2:p.(Leu1224Met)	NC_000002.11:g.96952585G>T	VUS	1 lab	8e78958874
X:135290105 FHL1 C>T	X	135290105	135290105	C	T	FHL1	c.486C>T	NM_001159704.1	NP_001153176.1:p.(Cys162=)	NC_000023.10:g.135290105C>T	(Likely) benign	1 lab	8e7c53a7c3
6:75839819 COL12A1 T>G	6	75839819	75839819	T	G	COL12A1	c.6198A>C	NM_004370.6	NP_004361.3:p.(Pro2066=)	NC_000006.11:g.75839819T>G	(Likely) benign	1 lab	8e7c701a2e
1:155210498 GBA1 T>C	1	155210498	155210498	T	C	GBA1	c.38A>G	NM_001005741.3	NP_001005741.1:p.(Lys13Arg)	NC_000001.10:g.155210498T>C	(Likely) benign	1 lab	8e7df554bf
17:41243972 BRCA1 A>G	17	41243972	41243972	A	G	BRCA1	c.3576T>C	NM_007294.4	NP_009225.1:p.(Pro1192=)	NC_000017.10:g.41243972A>G	(Likely) benign	1 lab	8e83b567b1
15:48704960 FBN1 T>C	15	48704960	48704960	T	C	FBN1	c.8052-20A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48704960T>C	(Likely) benign	1 lab	8e84c89c3d
2:179595358 TTN A>G	2	179595358	179595358	A	G	TTN	c.17902T>C	NM_001267550.2	NP_001254479.2:p.(Ser5968Pro)	NC_000002.11:g.179595358A>G	VUS	1 lab	8e8595c68f
12:122257644 SETD1B C>T	12	122257644	122257644	C	T	SETD1B	c.3753C>T	NM_001353345.2	NP_001340274.1:p.(Asp1251=)	NC_000012.11:g.122257644C>T	(Likely) benign	1 lab	8e87b5c59e
19:15308388 NOTCH3 G>A	19	15308388	15308388	G	A	NOTCH3	c.120C>T	NM_000435.3	NP_000426.2:p.(Ala40=)	NC_000019.9:g.15308388G>A	(Likely) benign	1 lab	8e881f1175
9:107651232 ABCA1 T>C	9	107651232	107651232	T	C	ABCA1	c.160+151A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651232T>C	VUS	1 lab	8e88fba1f5
6:44229540 NFKBIE G>A	6	44229540	44229540	G	A	NFKBIE	c.514C>T	NM_004556.3	NP_004547.3:p.(Arg172Trp)	NC_000006.11:g.44229540G>A	VUS	1 lab	8e8ede9085
15:58853636 LIPC T>TA	15	58853636	58853637	T	TA	LIPC	c.1169+457dup	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853637dup	(Likely) benign	1 lab	8e8ff974b6
1:117705157 VTCN1 Ref too long to show for this DEL>T	1	117705157	117738815	Ref too long to show for this DEL	T	VTCN1	c.32+14631_98-5615del	NM_024626.4	NP_078902.2:p.?	NC_000001.10:g.117705158_117738815del	VUS	1 lab	8e9049728e
15:63349725 MISSING T>Alt too long to show for this DUP	15	63349725	63400110	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.63349726_63400110dup	VUS	1 lab	8e90b84fdf
20:19955713 RIN2 G>C	20	19955713	19955713	G	C	RIN2	c.1191G>C	NM_001242581.2	NP_001229510.1:p.(Leu397=)	NC_000020.10:g.19955713G>C	(Likely) benign	1 lab	8e91ce8690
17:79503642 FSCN2 C>T	17	79503642	79503642	C	T	FSCN2	c.1172C>T	NM_001077182.3	NP_001070650.1:p.(Pro391Leu)	NC_000017.10:g.79503642C>T	(Likely) benign	1 lab	8e929c46b9
1:108993296 NBPF6 C>T	1	108993296	108993296	C	T	NBPF6	c.73C>T	NM_001143987.2	NP_001137459.1:p.(Arg25Cys)	NC_000001.10:g.108993296C>T	(Likely) benign	1 lab	8e92dedf53
2:21233142 APOB T>C	2	21233142	21233142	T	C	APOB	c.6598A>G	NM_000384.3	NP_000375.3:p.(Asn2200Asp)	NC_000002.11:g.21233142T>C	VUS	1 lab	8e937b8a7c
10:55600068 PCDH15 A>G	10	55600068	55600068	A	G	PCDH15	c.3998+12T>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55600068A>G	(Likely) benign	1 lab	8e94d03996
3:43607224 ANO10 CAAAA>C	3	43607224	43607242	CAAAA	C	ANO10	c.1219-9_1219-6del	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607239_43607242del	(Likely) benign	1 lab	8ea15f028a
2:179634486 TTN A>G	2	179634486	179634486	A	G	TTN	c.8822T>C	NM_133378.4	NP_596869.4:p.(Met2941Thr)	NC_000002.11:g.179634486A>G	VUS	1 lab	8ea3bd4c0d
8:1853733 ARHGEF10 C>G	8	1853733	1853733	C	G	ARHGEF10	c.1894-4C>G	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1853733C>G	(Likely) benign	1 lab	8ea54aa819
16:89348455 ANKRD11 C>T	16	89348455	89348455	C	T	ANKRD11	c.4495G>A	NM_001256182.2	NP_001243111.1:p.(Glu1499Lys)	NC_000016.9:g.89348455C>T	VUS	1 lab	8ea89f25fd
11:65321731 LTBP3 G>A	11	65321731	65321731	G	A	LTBP3	c.452C>T	NM_001130144.3	NP_001123616.1:p.(Thr151Ile)	NC_000011.9:g.65321731G>A	VUS	1 lab	8eaa90943b
6:32015689 TNXB G>A	6	32015689	32015689	G	A	TNXB	c.10140C>T	NM_019105.8	NP_061978.6:p.(Phe3380=)	NC_000006.11:g.32015689G>A	(Likely) benign	1 lab	8eb0130e5b
6:112575016 LAMA4 G>A	6	112575016	112575016	G	A	LAMA4	c.337C>T	NM_001105209.3	NP_001098679.1:p.(Leu113Phe)	NC_000006.11:g.112575016G>A	(Likely) benign	1 lab	8eb5e10acf
2:21250436 APOB C>A	2	21250436	21250436	C	A	APOB	c.2067+264G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250436C>A	(Likely) benign	1 lab	8ebb08c1af
14:47252251 MISSING Ref too long to show for this DEL>A	14	47252251	47428943	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.47252252_47428943del	VUS	1 lab	8ebc5974b2
10:34732520 PARD3 Ref too long to show for this DEL>A	10	34732520	34939217	Ref too long to show for this DEL	A	PARD3	c.222+46029_714+6724del	NM_001184785.2	NP_001171714.1:p.?	NC_000010.10:g.34732521_34939217del	VUS	1 lab	8ebefc0cab
4:106317504 PPA2 AAAC>A	4	106317504	106317509	AAAC	A	PPA2	c.784-16_784-14del	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106317507_106317509del	(Likely) benign	1 lab	8ec509b79b
2:97427675 CNNM4 C>A	2	97427675	97427675	C	A	CNNM4	c.939C>A	NM_020184.4	NP_064569.3:p.(Thr313=)	NC_000002.11:g.97427675C>A	(Likely) benign	1 lab	8ec73b4a85
10:294861 ZMYND11 GAAGAA>G	10	294861	294870	GAAGAA	G	ZMYND11	c.1524_1528del	NM_006624.7	NP_006615.2:p.(Lys509ThrfsTer5)	NC_000010.10:g.294866_294870del	(Likely) pathogenic	1 lab	8eca8f9099
16:88789716 PIEZO1 C>G	16	88789716	88789716	C	G	PIEZO1	c.4356G>C	NM_001142864.4	NP_001136336.2:p.(Val1452=)	NC_000016.9:g.88789716C>G	(Likely) benign	1 lab	8ecbea0bb4
18:21141324 NPC1 C>A	18	21141324	21141324	C	A	NPC1	c.631G>T	NM_000271.5	NP_000262.2:p.(Asp211Tyr)	NC_000018.9:g.21141324C>A	VUS	1 lab	8ece4c2c26
16:2107145 TSC2 G>A	16	2107145	2107145	G	A	TSC2	c.814G>A	NM_000548.5	NP_000539.2:p.(Ala272Thr)	NC_000016.9:g.2107145G>A	(Likely) benign	1 lab	8ed26886dc
14:23899784 MYH7 C>T	14	23899784	23899784	C	T	MYH7	c.984G>A	NM_000257.4	NP_000248.2:p.(Glu328=)	NC_000014.8:g.23899784C>T	(Likely) benign	1 lab	8ed53a0ebf
5:175339521 MISSING Ref too long to show for this DEL>C	5	175339521	175400904	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.175339522_175400904del	VUS	1 lab	8ed6705bac
2:21236482 APOB A>G	2	21236482	21236482	A	G	APOB	c.3843-77T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236482A>G	(Likely) benign	1 lab	8ed6b994d5
11:17552781 USH1C G>A	11	17552781	17552781	G	A	USH1C	c.307C>T	NM_153676.4	NP_710142.1:p.(Arg103Cys)	NC_000011.9:g.17552781G>A	(Likely) benign	1 lab	8ed9e18e02
1:156843688 NTRK1 G>A	1	156843688	156843688	G	A	NTRK1	c.1114G>A	NM_002529.4	NP_002520.2:p.(Ala372Thr)	NC_000001.10:g.156843688G>A	VUS	1 lab	8eda6c72e4
X:150876796 MISSING T>Alt too long to show for this DUP	X	150876796	151140209	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150876797_151140209dup	VUS	1 lab	8edae2163a
6:100838499 SIM1 G>A	6	100838499	100838499	G	A	SIM1	c.2039C>T	NM_005068.3	NP_005059.2:p.(Ser680Leu)	NC_000006.11:g.100838499G>A	VUS	1 lab	8edd552a68
8:145622100 CPSF1 G>A	8	145622100	145622100	G	A	CPSF1	c.2637C>T	NM_013291.3	NP_037423.2:p.(His879=)	NC_000008.10:g.145622100G>A	(Likely) benign	1 lab	8ede1f3bee
7:138603487 KIAA1549 G>A	7	138603487	138603487	G	A	KIAA1549	c.885C>T	NM_001164665.2	NP_001158137.1:p.(Asp295=)	NC_000007.13:g.138603487G>A	(Likely) benign	1 lab	8edefc0767
11:47357415 MYBPC3 C>T	11	47357415	47357415	C	T	MYBPC3	c.2737+13G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357415C>T	(Likely) benign	1 lab	8ee09aeac7
19:36398148 TYROBP C>T	19	36398148	36398148	C	T	TYROBP	c.248G>A	NM_003332.4	NP_003323.1:p.(Arg83His)	NC_000019.9:g.36398148C>T	(Likely) benign	1 lab	8ee49a7bc1
1:160209873 DCAF8 GCTCTTCTTCCTC>G	1	160209873	160209903	GCTCTTCTTCCTC	G	DCAF8	c.325_336del	NM_015726.4	NP_056541.2:p.(Glu109_Glu112del)	NC_000001.10:g.160209892_160209903del	(Likely) benign	1 lab	8ee6e0de91
3:38627497 SCN5A G>A	3	38627497	38627497	G	A	SCN5A	c.2472C>T	NM_198056.3	NP_932173.1:p.(Thr824=)	NC_000003.11:g.38627497G>A	(Likely) benign	1 lab	8ee73aeba2
1:216270538 USH2A G>C	1	216270538	216270538	G	C	USH2A	c.4645C>G	NM_206933.4	NP_996816.3:p.(Arg1549Gly)	NC_000001.10:g.216270538G>C	VUS	1 lab	8eeb9221ee
19:54631704 PRPF31 G>C	19	54631704	54631704	G	C	PRPF31	c.1098G>C	NM_015629.4	NP_056444.3:p.(Leu366=)	NC_000019.9:g.54631704G>C	(Likely) benign	1 lab	8eee0c19b0
7:150645607 KCNH2 CG>C	7	150645607	150645612	CG	C	KCNH2	c.2616del	NM_000238.4	NP_000229.1:p.(Gly873AlafsTer5)	NC_000007.13:g.150645612del	(Likely) pathogenic	1 lab	8eee39a0db
8:59405065 CYP7A1 C>T	8	59405065	59405065	C	T	CYP7A1	c.1062G>A	NM_000780.4	NP_000771.2:p.(Leu354=)	NC_000008.10:g.59405065C>T	(Likely) benign	1 lab	8ef01a2912
3:38630558 SCN5A C>T	3	38630558	38630558	C	T	SCN5A	c.2263-1494G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38630558C>T	(Likely) benign	1 lab	8ef3771e61
7:151292419 PRKAG2 G>C	7	151292419	151292419	G	C	PRKAG2	c.864+12C>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151292419G>C	(Likely) benign	1 lab	8ef7a29047
16:15810812 MYH11 A>G	16	15810812	15810812	A	G	MYH11	c.5504+185T>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15810812A>G	(Likely) benign	1 lab	8ef7e4961c
12:2595340 CACNA1C G>A	12	2595340	2595340	G	A	CACNA1C	c.828G>A	NM_199460.4	NP_955630.3:p.(Leu276=)	NC_000012.11:g.2595340G>A	(Likely) benign	1 lab	8efd3a073c
19:11200088 LDLR C>T	19	11200088	11200088	C	T	LDLR				NC_000019.9:g.11200088C>T	(Likely) pathogenic	1 lab	8efe907f1a
2:220285352 DES G>A	2	220285352	220285352	G	A	DES	c.871G>A	NM_001927.4	NP_001918.3:p.(Glu291Lys)	NC_000002.11:g.220285352G>A	VUS	1 lab	8f021efb00
11:119156038 CBL C>T	11	119156038	119156038	C	T	CBL	c.1703C>T	NM_005188.4	NP_005179.2:p.(Thr568Ile)	NC_000011.9:g.119156038C>T	VUS	1 lab	8f0276c68a
19:45452342 APOC2 A>C	19	45452342	45452342	A	C	APOC2	c.216-74A>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452342A>C	(Likely) benign	1 lab	8f04af8acc
14:23858906 MYH6 C>T	14	23858906	23858906	C	T	MYH6	c.3755G>A	NM_002471.4	NP_002462.2:p.(Arg1252Gln)	NC_000014.8:g.23858906C>T	VUS	1 lab	8f05d56d02
1:27520864 MISSING Ref too long to show for this DEL>G	1	27520864	27565690	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.27520865_27565690del	VUS	1 lab	8f0c70b2b0
6:7571429 DSP T>C	6	7571429	7571429	T	C	DSP	c.1702-187T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571429T>C	(Likely) benign	1 lab	8f0d33113b
21:47552061 COL6A2 C>T	21	47552061	47552061	C	T	COL6A2	c.2655C>T	NM_001849.4	NP_001840.3:p.(Pro885=)	NC_000021.8:g.47552061C>T	(Likely) benign	1 lab	8f0eb1ccf8
6:123577058 TRDN G>T	6	123577058	123577058	G	T	TRDN	c.1871-11C>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123577058G>T	(Likely) benign	1 lab	8f0fc74c62
7:153750076 DPP6 C>G	7	153750076	153750076	C	G	DPP6	c.171C>G	NM_130797.4	NP_570629.2:p.(Gly57=)	NC_000007.13:g.153750076C>G	(Likely) benign	1 lab	8f1117684e
3:53758040 CACNA1D C>G	3	53758040	53758040	C	G	CACNA1D	c.2160+14C>G	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53758040C>G	(Likely) benign	1 lab	8f124f2d87
10:4365698 MISSING T>Alt too long to show for this DUP	10	4365698	4790353	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.4365699_4790353dup	VUS	1 lab	8f15ca1fd6
9:107581161 ABCA1 C>T	9	107581161	107581161	C	T	ABCA1	c.3245G>A	NM_005502.4	NP_005493.2:p.(Arg1082His)	NC_000009.11:g.107581161C>T	VUS	1 lab	8f17aa4064
X:53278066 IQSEC2 T>C	X	53278066	53278066	T	C	IQSEC2	c.2298-2A>G	NM_001111125.3	NP_001104595.1:p.?	NC_000023.10:g.53278066T>C	(Likely) pathogenic	1 lab	8f181e1b85
10:89623084 KLLN C>T	10	89623084	89623084	C	T	KLLN	c.-840G>A	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623084C>T	(Likely) benign	1 lab	8f1ada51fb
11:47358782 MYBPC3 G>GT	11	47358782	47358785	G	GT	MYBPC3	c.2602+159dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358785dup	(Likely) benign	1 lab	8f1aebeee6
2:47482102 MISSING Ref too long to show for this DEL>A	2	47482102	47621492	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.47482104_47621492del	VUS	1 lab	8f1bfa3d60
2:21234418 APOB G>A	2	21234418	21234418	G	A	APOB	c.5322C>T	NM_000384.3	NP_000375.3:p.(Tyr1774=)	NC_000002.11:g.21234418G>A	(Likely) benign	1 lab	8f1fe8b04f
15:85411509 ALPK3 G>A	15	85411509	85411509	G	A	ALPK3	c.4940G>A	NM_020778.5	NP_065829.4:p.(Arg1647Lys)	NC_000015.9:g.85411509G>A	VUS	1 lab	8f24629756
9:139399320 NOTCH1 C>T	9	139399320	139399320	C	T	NOTCH1	c.4823G>A	NM_017617.5	NP_060087.3:p.(Arg1608His)	NC_000009.11:g.139399320C>T	(Likely) benign	1 lab	8f263236d3
6:16144090 MYLIP T>C	6	16144090	16144090	T	C	MYLIP	c.823T>C	NM_013262.4	NP_037394.2:p.(Tyr275His)	NC_000006.11:g.16144090T>C	VUS	1 lab	8f2705d9ef
1:2234753 SKI C>A	1	2234753	2234753	C	A	SKI	c.1125C>A	NM_003036.4	NP_003027.1:p.(Arg375=)	NC_000001.10:g.2234753C>A	(Likely) benign	1 lab	8f27ded217
16:81388219 GAN C>T	16	81388219	81388219	C	T	GAN	c.492C>T	NM_022041.4	NP_071324.1:p.(Val164=)	NC_000016.9:g.81388219C>T	(Likely) benign	1 lab	8f2d939b66
1:245019300 HNRNPU AT>A	1	245019300	245019302	AT	A	HNRNPU	c.2072del	NM_031844.3	NP_114032.2:p.(Asn691IlefsTer143)	NC_000001.10:g.245019302del	(Likely) pathogenic	1 lab	8f2ebdc8bf
8:10467614 RP1L1 G>T	8	10467614	10467614	G	T	RP1L1	c.3994C>A	NM_178857.6	NP_849188.4:p.(Gln1332Lys)	NC_000008.10:g.10467614G>T	(Likely) benign	1 lab	8f32516527
2:179444939 TTN C>T	2	179444939	179444939	C	T	TTN	c.67075G>A	NM_001267550.2	NP_001254479.2:p.(Val22359Ile)	NC_000002.11:g.179444939C>T	(Likely) benign	1 lab	8f336814fe
5:126140522 LMNB1 T>C	5	126140522	126140522	T	C	LMNB1	c.414T>C	NM_005573.4	NP_005564.1:p.(Tyr138=)	NC_000005.9:g.126140522T>C	(Likely) benign	1 lab	8f34b14bbe
5:86627168 RASA1 G>A	5	86627168	86627168	G	A	RASA1	c.543G>A	NM_002890.3	NP_002881.1:p.(Trp181Ter)	NC_000005.9:g.86627168G>A	(Likely) pathogenic	1 lab	8f35d345ed
2:179472359 TTN C>G	2	179472359	179472359	C	G	TTN	c.53056G>C	NM_001267550.2	NP_001254479.2:p.(Ala17686Pro)	NC_000002.11:g.179472359C>G	VUS	1 lab	8f394937f0
17:45216132 CDC27 T>G	17	45216132	45216132	T	G	CDC27	c.1695A>C	NM_001114091.4	NP_001107563.1:p.(Leu565Phe)	NC_000017.10:g.45216132T>G	(Likely) benign	1 lab	8f39814a7b
16:929973 LMF1 T>A	16	929973	929973	T	A	LMF1	c.730-236A>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929973T>A	(Likely) benign	1 lab	8f3dae3052
15:48707926 FBN1 C>T	15	48707926	48707926	C	T	FBN1	c.7858G>A	NM_000138.5	NP_000129.3:p.(Ala2620Thr)	NC_000015.9:g.48707926C>T	VUS	1 lab	8f429df6ee
7:138588379 KIAA1549 C>A	7	138588379	138588379	C	A	KIAA1549	c.3624G>T	NM_001164665.2	NP_001158137.1:p.(Arg1208=)	NC_000007.13:g.138588379C>A	VUS	1 lab	8f42ac2614
9:97869487 FANCC T>C	9	97869487	97869487	T	C	FANCC	c.1394A>G	NM_000136.3	NP_000127.2:p.(Gln465Arg)	NC_000009.11:g.97869487T>C	(Likely) benign	1 lab	8f43125df3
12:977563 WNK1 G>A	12	977563	977563	G	A	WNK1	c.2926G>A	NM_213655.5	NP_998820.3:p.(Gly976Ser)	NC_000012.11:g.977563G>A	VUS	1 lab	8f4379afc0
2:179489415 TTN G>A	2	179489415	179489415	G	A	TTN	c.36888C>T	NM_133378.4	NP_596869.4:p.(Val12296=)	NC_000002.11:g.179489415G>A	(Likely) benign	1 lab	8f450161b1
18:25573609 CDH2 G>C	18	25573609	25573609	G	C	CDH2	c.1021-8C>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25573609G>C	(Likely) benign	1 lab	8f4bc7e7c5
X:100507675 DRP2 G>T	X	100507675	100507675	G	T	DRP2	c.1947G>T	NM_001939.3	NP_001930.2:p.(Leu649=)	NC_000023.10:g.100507675G>T	(Likely) benign	1 lab	8f4c450471
X:49062187 CACNA1F G>A	X	49062187	49062187	G	A	CACNA1F	c.5592C>T	NM_005183.4	NP_005174.2:p.(Tyr1864=)	NC_000023.10:g.49062187G>A	(Likely) benign	1 lab	8f4d5e5b44
19:11224068 LDLR C>A	19	11224068	11224068	C	A	LDLR	c.1301C>A	NM_000527.5	NP_000518.1:p.(Thr434Lys)	NC_000019.9:g.11224068C>A	(Likely) pathogenic	1 lab	8f5062e74f
22:22315091 MISSING Ref too long to show for this DEL>A	22	22315091	22578983	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22315092_22578983del	VUS	1 lab	8f5097fdc7
10:89624247 PTEN G>T	10	89624247	89624247	G	T	PTEN	c.21G>T	NM_000314.8	NP_000305.3:p.(Glu7Asp)	NC_000010.10:g.89624247G>T	VUS	1 lab	8f511b3dd7
2:189946088 COL5A2 TA>T	2	189946088	189946090	TA	T	COL5A2	c.853-320del	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189946090del	(Likely) benign	1 lab	8f5368a341
12:107114642 RFX4 G>A	12	107114642	107114642	G	A	RFX4	c.1339G>A	NM_213594.3	NP_998759.1:p.(Ala447Thr)	NC_000012.11:g.107114642G>A	VUS	1 lab	8f53efe344
15:75682081 SIN3A T>A	15	75682081	75682081	T	A	SIN3A	c.2933A>T	NM_015477.3	NP_056292.1:p.(Gln978Leu)	NC_000015.9:g.75682081T>A	VUS	1 lab	8f55fb5eac
2:25057398 ADCY3 G>A	2	25057398	25057398	G	A	ADCY3	c.1989C>T	NM_001377128.1	NP_001364057.1:p.(Val663=)	NC_000002.11:g.25057398G>A	(Likely) benign	1 lab	8f5645e1af
9:71501686 PIP5K1B Ref too long to show for this DEL>T	9	71501686	71606225	Ref too long to show for this DEL	T	PIP5K1B	c.319-2207_1620+52del	NM_003558.4	NP_003549.1:p.?	NC_000009.11:g.71501690_71606225del	VUS	1 lab	8f58299243
X:321488 MISSING G>Alt too long to show for this DUP	X	321488	847434	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.321491_847434dup	VUS	1 lab	8f582aaa81
18:10731428 PIEZO2 C>T	18	10731428	10731428	C	T	PIEZO2	c.4832G>A	NM_022068.4	NP_071351.2:p.(Arg1611Gln)	NC_000018.9:g.10731428C>T	(Likely) benign	1 lab	8f5c023889
2:179438846 TTN C>T	2	179438846	179438846	C	T	TTN	c.64309G>A	NM_133378.4	NP_596869.4:p.(Ala21437Thr)	NC_000002.11:g.179438846C>T	VUS	1 lab	8f5e75fd4c
3:70433831 MISSING Ref too long to show for this DEL>T	3	70433831	71327322	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.70433832_71327322del	(Likely) pathogenic	1 lab	8f6037e67b
9:95481019 BICD2 G>A	9	95481019	95481019	G	A	BICD2	c.1908C>T	NM_001003800.2	NP_001003800.1:p.(Asp636=)	NC_000009.11:g.95481019G>A	(Likely) benign	1 lab	8f60b03903
11:47358040 MYBPC3 CAAAAAAAAAAA>C	11	47358040	47358064	CAAAAAAAAAAA	C	MYBPC3	c.2603-489_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358054_47358064del	(Likely) benign	1 lab	8f60e400f8
1:8420563 RERE C>T	1	8420563	8420563	C	T	RERE	c.3004G>A	NM_012102.4	NP_036234.3:p.(Ala1002Thr)	NC_000001.10:g.8420563C>T	(Likely) benign	1 lab	8f60ef33de
16:15847351 MYH11 C>G	16	15847351	15847351	C	G	MYH11	c.1764G>C	NM_002474.3	NP_002465.1:p.(Ala588=)	NC_000016.9:g.15847351C>G	(Likely) benign	1 lab	8f6245e152
X:110531355 MISSING A>Alt too long to show for this DUP	X	110531355	110561869	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.110531357_110561869dup	VUS	1 lab	8f68ed153d
17:79496003 FSCN2 G>A	17	79496003	79496003	G	A	FSCN2	c.446G>A	NM_001077182.3	NP_001070650.1:p.(Arg149Gln)	NC_000017.10:g.79496003G>A	(Likely) benign	1 lab	8f68ffdba1
X:154157883 F8 C>T	X	154157883	154157883	C	T	F8	c.4182G>A	NM_000132.4	NP_000123.1:p.(Thr1394=)	NC_000023.10:g.154157883C>T	(Likely) benign	1 lab	8f69ba2067
11:19207814 CSRP3 A>G	11	19207814	19207814	A	G	CSRP3	c.363T>C	NM_003476.5	NP_003467.1:p.(Pro121=)	NC_000011.9:g.19207814A>G	(Likely) benign	1 lab	8f6b8ca5ea
6:56504256 DST A>T	6	56504256	56504256	A	T	DST	c.1240T>A	NM_001723.7	NP_001714.1:p.(Tyr414Asn)	NC_000006.11:g.56504256A>T	VUS	1 lab	8f6f5e75d5
17:48269475 COL1A1 G>C	17	48269475	48269475	G	C	COL1A1	c.1984-90C>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269475G>C	(Likely) benign	1 lab	8f6fd988a4
1:5923369 NPHP4 C>T	1	5923369	5923369	C	T	NPHP4	c.4237G>A	NM_015102.5	NP_055917.1:p.(Asp1413Asn)	NC_000001.10:g.5923369C>T	(Likely) benign	1 lab	8f70bd9047
14:105175708 INF2 C>T	14	105175708	105175708	C	T	INF2	c.2040C>T	NM_001031714.4	NP_001026884.3:p.(Pro680=)	NC_000014.8:g.105175708C>T	(Likely) benign	1 lab	8f71d3f732
8:19822524 LPL C>T	8	19822524	19822524	C	T	LPL	c.1428-297C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822524C>T	(Likely) benign	1 lab	8f728eb3a7
19:50794208 MYH14 G>A	19	50794208	50794208	G	A	MYH14	c.5030G>A	NM_001145809.2	NP_001139281.1:p.(Arg1677His)	NC_000019.9:g.50794208G>A	VUS	1 lab	8f749a50db
17:10303756 MYH8 A>G	17	10303756	10303756	A	G	MYH8	c.3686T>C	NM_002472.3	NP_002463.2:p.(Met1229Thr)	NC_000017.10:g.10303756A>G	(Likely) benign	1 lab	8f782be16e
7:107664636 LAMB4 A>G	7	107664636	107664636	A	G	LAMB4	c.5147-13T>C	NM_007356.3	NP_031382.2:p.?	NC_000007.13:g.107664636A>G	(Likely) benign	1 lab	8f78daab96
20:57415812 GNAS T>A	20	57415812	57415812	T	A	GNAS	c.651T>A	NM_016592.5	NP_057676.1:p.(Arg217=)	NC_000020.10:g.57415812T>A	(Likely) benign	1 lab	8f78e3f41d
2:44039839 ABCG5 C>T	2	44039839	44039839	C	T	ABCG5	c.*416G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44039839C>T	(Likely) benign	1 lab	8f7a996c36
3:123383049 MYLK G>A	3	123383049	123383049	G	A	MYLK	c.3888C>T	NM_053025.4	NP_444253.3:p.(Thr1296=)	NC_000003.11:g.123383049G>A	(Likely) benign	1 lab	8f7d2f7859
2:179650793 TTN T>C	2	179650793	179650793	T	C	TTN	c.2152A>G	NM_133378.4	NP_596869.4:p.(Arg718Gly)	NC_000002.11:g.179650793T>C	VUS	1 lab	8f7d545671
22:51167574 MISSING Ref too long to show for this DEL>G	22	51167574	51219009	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.51167575_51219009del	(Likely) pathogenic	1 lab	8f7e37fefb
9:379824 DOCK8 C>T	9	379824	379824	C	T	DOCK8	c.2494C>T	NM_203447.4	NP_982272.2:p.(His832Tyr)	NC_000009.11:g.379824C>T	VUS	1 lab	8f7fde6096
4:62903371 MISSING Ref too long to show for this DEL>A	4	62903371	63368251	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.62903372_63368251del	VUS	1 lab	8f8047b7d3
2:21225264 APOB CAT>C	2	21225264	21225268	CAT	C	APOB	c.13028_13029del	NM_000384.3	NP_000375.3:p.(Tyr4343CysfsTer3)	NC_000002.11:g.21225267_21225268del	(Likely) pathogenic	1 lab	8f82ab8240
21:46892723 MISSING Ref too long to show for this DEL>C	21	46892723	48097372	Ref too long to show for this DEL	C	MISSING				NC_000021.8:g.46892724_48097372del	(Likely) pathogenic	1 lab	8f896c9a63
8:19811744 LPL C>G	8	19811744	19811744	C	G	LPL	c.655C>G	NM_000237.3	NP_000228.1:p.(Arg219Gly)	NC_000008.10:g.19811744C>G	VUS	1 lab	8f89c77573
2:179559361 TTN C>T	2	179559361	179559361	C	T	TTN	c.31391G>A	NM_001267550.2	NP_001254479.2:p.(Arg10464Gln)	NC_000002.11:g.179559361C>T	VUS	1 lab	8f8b6cc848
16:54319850 IRX3 G>A	16	54319850	54319850	G	A	IRX3	c.113C>T	NM_024336.3	NP_077312.2:p.(Ala38Val)	NC_000016.9:g.54319850G>A	(Likely) benign	1 lab	8f8ffe658b
3:128525445 RAB7A C>T	3	128525445	128525445	C	T	RAB7A	c.399+12C>T	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128525445C>T	(Likely) benign	1 lab	8f90cd3c98
6:32015796 TNXB A>G	6	32015796	32015796	A	G	TNXB	c.10040-7T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32015796A>G	(Likely) benign	1 lab	8f944da130
3:38781130 SCN10A A>G	3	38781130	38781130	A	G	SCN10A	c.2156T>C	NM_006514.4	NP_006505.4:p.(Phe719Ser)	NC_000003.11:g.38781130A>G	VUS	1 lab	8f945fbeb5
6:32064726 TNXB TG>T	6	32064726	32064727	TG	T	TNXB	c.903del	NM_019105.8	NP_061978.6:p.(Tyr301Ter)	NC_000006.11:g.32064727del	(Likely) pathogenic	1 lab	8f94872285
1:63069703 ANGPTL3 G>A	1	63069703	63069703	G	A	ANGPTL3	c.995G>A	NM_014495.4	NP_055310.1:p.(Arg332Gln)	NC_000001.10:g.63069703G>A	VUS	1 lab	8f94bc4a90
14:76437271 TGFB3 C>T	14	76437271	76437271	C	T	TGFB3	c.646+198G>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76437271C>T	(Likely) benign	1 lab	8f989a5b9f
16:23647469 PALB2 C>G	16	23647469	23647469	C	G	PALB2	c.398G>C	NM_024675.4	NP_078951.2:p.(Ser133Thr)	NC_000016.9:g.23647469C>G	(Likely) benign	1 lab	8f9ab33e47
11:108117838 ATM C>T	11	108117838	108117838	C	T	ATM	c.1049C>T	NM_000051.4	NP_000042.3:p.(Ala350Val)	NC_000011.9:g.108117838C>T	VUS	1 lab	8f9b87c258
19:11202516 LDLR G>C	19	11202516	11202516	G	C	LDLR	c.67+2225G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202516G>C	(Likely) benign	1 lab	8f9c5734d9
7:128478469 FLNC A>T	7	128478469	128478469	A	T	FLNC	c.1196A>T	NM_001458.5	NP_001449.3:p.(Asp399Val)	NC_000007.13:g.128478469A>T	VUS	1 lab	8f9d545c72
X:40572251 MED14 G>T	X	40572251	40572251	G	T	MED14	c.696C>A	NM_004229.4	NP_004220.2:p.(Ala232=)	NC_000023.10:g.40572251G>T	(Likely) benign	1 lab	8f9fb804c4
X:76872091 ATRX A>T	X	76872091	76872091	A	T	ATRX	c.5556T>A	NM_000489.6	NP_000480.3:p.(Asp1852Glu)	NC_000023.10:g.76872091A>T	VUS	1 lab	8f9ff1070a
2:47602457 EPCAM A>T	2	47602457	47602457	A	T	EPCAM	c.491+19A>T	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47602457A>T	(Likely) benign	1 lab	8fa04ce5f1
3:184052525 EIF4G1 G>A	3	184052525	184052525	G	A	EIF4G1	c.4632G>A	NM_182917.4	NP_886553.3:p.(Arg1544=)	NC_000003.11:g.184052525G>A	(Likely) benign	1 lab	8fa2a90ad3
16:68771347 CDH1 CGCT>C	16	68771347	68771364	CGCT	C	CDH1	c.44_46del	NM_004360.5	NP_004351.1:p.(Leu15del)	NC_000016.9:g.68771362_68771364del	(Likely) benign	1 lab	8fa2f75412
12:64020310 DPY19L2 T>TAAAAA	12	64020310	64020320	T	TAAAAA	DPY19L2	c.804-9_804-5dup	NM_173812.5	NP_776173.3:p.?	NC_000012.11:g.64020316_64020320dup	(Likely) benign	1 lab	8fa5dc2e37
12:122252509 SETD1B C>T	12	122252509	122252509	C	T	SETD1B	c.2388C>T	NM_001353345.2	NP_001340274.1:p.(Pro796=)	NC_000012.11:g.122252509C>T	(Likely) benign	1 lab	8fa7c521f4
7:151372572 PRKAG2 C>T	7	151372572	151372572	C	T	PRKAG2	c.618G>A	NM_016203.4	NP_057287.2:p.(Pro206=)	NC_000007.13:g.151372572C>T	(Likely) benign	1 lab	8fa8cf1cbd
16:77323312 ADAMTS18 C>G	16	77323312	77323312	C	G	ADAMTS18	c.3403-4G>C	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77323312C>G	(Likely) benign	1 lab	8fa9864bdd
14:76438060 TGFB3 G>T	14	76438060	76438060	G	T	TGFB3	c.354C>A	NM_001329939.2	NP_001316868.1:p.(Asn118Lys)	NC_000014.8:g.76438060G>T	VUS	1 lab	8faa127f47
12:21327648 SLCO1B1 G>A	12	21327648	21327648	G	A	SLCO1B1	c.359+5G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327648G>A	(Likely) pathogenic	1 lab	8faafa625b
21:44974017 MISSING A>Alt too long to show for this DUP	21	44974017	45159797	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.44974018_45159797dup	VUS	1 lab	8fab5cd356
7:92147459 PEX1 T>G	7	92147459	92147459	T	G	PEX1	c.468A>C	NM_000466.3	NP_000457.1:p.(Gln156His)	NC_000007.13:g.92147459T>G	VUS	1 lab	8fad56723b
20:1592352 SIRPB1 A>C	20	1592352	1592352	A	C	SIRPB1	c.84T>G	NM_001135844.4	NP_001129316.1:p.(Ala28=)	NC_000020.10:g.1592352A>C	(Likely) benign	1 lab	8faed84802
11:58891756 FAM111B G>A	11	58891756	58891756	G	A	FAM111B	c.186G>A	NM_198947.4	NP_945185.1:p.(Lys62=)	NC_000011.9:g.58891756G>A	(Likely) benign	1 lab	8faf8311fa
18:48584855 SMAD4 ATT>A	18	48584855	48584871	ATT	A	SMAD4	c.904+44_904+45del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584870_48584871del	(Likely) benign	1 lab	8fb2d9828b
5:33132 MISSING Ref too long to show for this DEL>C	5	33132	220487	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.33133_220487del	VUS	1 lab	8fbacbf2a9
9:107549862 ABCA1 G>C	9	107549862	107549862	G	C	ABCA1	c.6204+339C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549862G>C	(Likely) benign	1 lab	8fbbe4466b
16:1003919 LMF1 CAA>C	16	1003919	1003922	CAA	C	LMF1	c.-52+436_-52+437del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003921_1003922del	(Likely) benign	1 lab	8fbfacec1a
12:121435181 HNF1A G>A	12	121435181	121435181	G	A	HNF1A	c.1310-96G>A	NM_001306179.2	NP_001293108.2:p.?	NC_000012.11:g.121435181G>A	(Likely) benign	1 lab	8fc157f1be
9:139407850 NOTCH1 A>G	9	139407850	139407850	A	G	NOTCH1	c.2347T>C	NM_017617.5	NP_060087.3:p.(Phe783Leu)	NC_000009.11:g.139407850A>G	VUS	1 lab	8fc7af3c79
19:50902193 POLD1 C>T	19	50902193	50902193	C	T	POLD1	c.85C>T	NM_002691.4	NP_002682.2:p.(Pro29Ser)	NC_000019.9:g.50902193C>T	VUS	1 lab	8fca04ff23
9:107580961 ABCA1 C>G	9	107580961	107580961	C	G	ABCA1	c.3445G>C	NM_005502.4	NP_005493.2:p.(Val1149Leu)	NC_000009.11:g.107580961C>G	VUS	1 lab	8fce385ab1
19:45412036 APOE G>A	19	45412036	45412036	G	A	APOE	c.561G>A	NM_001302688.2	NP_001289617.1:p.(Lys187=)	NC_000019.9:g.45412036G>A	(Likely) benign	1 lab	8fd0741820
4:39259183 WDR19 G>A	4	39259183	39259183	G	A	WDR19	c.3183+9G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39259183G>A	(Likely) benign	1 lab	8fd0961f2f
4:650654 PDE6B C>T	4	650654	650654	C	T	PDE6B	c.1108-9C>T	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.650654C>T	(Likely) benign	1 lab	8fd256816f
8:133935565 TG T>C	8	133935565	133935565	T	C	TG	c.4529-18T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133935565T>C	(Likely) benign	1 lab	8fd3708c0d
18:29178640 TTR GGACTTCTCC>G	18	29178640	29178649	GGACTTCTCC	G	TTR	c.*3_*11del	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29178641_29178649del	(Likely) benign	1 lab	8fd3a21495
11:1016900 MUC6 G>T	11	1016900	1016900	G	T	MUC6	c.5901C>A	NM_005961.3	NP_005952.2:p.(Thr1967=)	NC_000011.9:g.1016900G>T	(Likely) benign	1 lab	8fd577673c
4:6302989 WFS1 C>G	4	6302989	6302989	C	G	WFS1	c.1467C>G	NM_006005.3	NP_005996.2:p.(Ile489Met)	NC_000004.11:g.6302989C>G	VUS	1 lab	8fd7feebb5
2:44070639 ABCG8 T>C	2	44070639	44070639	T	C	ABCG8	c.64-1007T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44070639T>C	(Likely) benign	1 lab	8fda5e68de
4:153411160 FBXW7 Ref too long to show for this DEL>A	4	153411160	153432741	Ref too long to show for this DEL	A	FBXW7	c.-120+23352_-120+44932del	NM_001349798.2	NP_001336727.1:p.?	NC_000004.11:g.153411161_153432741del	VUS	1 lab	8fdb4c25c8
10:54040794 PRKG1 T>C	10	54040794	54040794	T	C	PRKG1	c.1500+104T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54040794T>C	(Likely) benign	1 lab	8fdcbd673e
21:15317282 MISSING T>Alt too long to show for this DUP	21	15317282	15695756	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.15317283_15695756dup	VUS	1 lab	8fdf6a148a
3:45875718 LZTFL1 C>A	3	45875718	45875718	C	A	LZTFL1	c.333+12G>T	NM_001276378.2	NP_001263307.1:p.?	NC_000003.11:g.45875718C>A	(Likely) benign	1 lab	8fe079b364
5:23527239 PRDM9 C>G	5	23527239	23527239	C	G	PRDM9	c.2042C>G	NM_020227.4	NP_064612.2:p.(Thr681Ser)	NC_000005.9:g.23527239C>G	(Likely) benign	1 lab	8fe082870d
X:70439000 GJB1 CTTATTATTATTA>C	X	70439000	70439038	CTTATTATTATTA	C	GJB1	c.-17+3887_-17+3898del	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439027_70439038del	(Likely) benign	1 lab	8fe331426c
9:35714272 TLN1 G>A	9	35714272	35714272	G	A	TLN1	c.3084C>T	NM_006289.4	NP_006280.3:p.(Gly1028=)	NC_000009.11:g.35714272G>A	(Likely) benign	1 lab	8fe55ada63
4:126372278 FAT4 G>A	4	126372278	126372278	G	A	FAT4	c.10113G>A	NM_001291303.3	NP_001278232.1:p.(Val3371=)	NC_000004.11:g.126372278G>A	(Likely) benign	1 lab	8fe7726dc6
18:8798208 MTCL1 G>A	18	8798208	8798208	G	A	MTCL1	c.2355G>A	NM_015210.4	NP_056025.2:p.(Glu785=)	NC_000018.9:g.8798208G>A	(Likely) benign	1 lab	8feabb0abf
X:17705956 NHS AC>A	X	17705956	17705959	AC	A	NHS	c.663del	NM_001291867.2	NP_001278796.1:p.(Cys222AlafsTer62)	NC_000023.10:g.17705959del	(Likely) pathogenic	1 lab	8fef26a656
2:179553522 TTN A>C	2	179553522	179553522	A	C	TTN	c.32096-17T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179553522A>C	(Likely) benign	1 lab	8ff0199c9f
9:67927076 ANKRD20A1 G>A	9	67927076	67927076	G	A	ANKRD20A1	c.203+1G>A	NM_032250.5	NP_115626.2:p.?	NC_000009.11:g.67927076G>A	(Likely) benign	1 lab	9014f590cc
6:32029289 TNXB G>A	6	32029289	32029289	G	A	TNXB	c.7377C>T	NM_019105.8	NP_061978.6:p.(Gly2459=)	NC_000006.11:g.32029289G>A	(Likely) benign	1 lab	8ff04a8761
15:45400396 DUOX2 A>G	15	45400396	45400396	A	G	DUOX2	c.1423T>C	NM_014080.5	NP_054799.4:p.(Tyr475His)	NC_000015.9:g.45400396A>G	VUS	1 lab	8ff068ada8
14:23898487 MYH7 C>A	14	23898487	23898487	C	A	MYH7	c.1208G>T	NM_000257.4	NP_000248.2:p.(Arg403Leu)	NC_000014.8:g.23898487C>A	(Likely) pathogenic	1 lab	8ff0e40b1f
6:7584584 DSP C>T	6	7584584	7584584	C	T	DSP	c.7089C>T	NM_004415.4	NP_004406.2:p.(His2363=)	NC_000006.11:g.7584584C>T	(Likely) benign	1 lab	8ff13ccd8d
19:11231197 LDLR A>G	19	11231197	11231197	A	G	LDLR	c.2139A>G	NM_000527.5	NP_000518.1:p.(Thr713=)	NC_000019.9:g.11231197A>G	(Likely) pathogenic	1 lab	8ff17308ba
12:32993714 PKP2 G>A	12	32993714	32993714	G	A	PKP2	c.1688+248C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32993714G>A	(Likely) benign	1 lab	8ff4f59263
15:101597093 LRRK1 C>T	15	101597093	101597093	C	T	LRRK1	c.4365C>T	NM_024652.6	NP_078928.3:p.(Tyr1455=)	NC_000015.9:g.101597093C>T	(Likely) benign	1 lab	8ff622c374
16:88782217 PIEZO1 G>A	16	88782217	88782217	G	A	PIEZO1	c.7362C>T	NM_001142864.4	NP_001136336.2:p.(Phe2454=)	NC_000016.9:g.88782217G>A	(Likely) benign	1 lab	8ff71f4441
3:38835422 SCN10A T>C	3	38835422	38835422	T	C	SCN10A	c.80A>G	NM_006514.4	NP_006505.4:p.(Gln27Arg)	NC_000003.11:g.38835422T>C	VUS	1 lab	8ffa8bac06
11:117263316 CEP164 T>C	11	117263316	117263316	T	C	CEP164	c.2466T>C	NM_014956.5	NP_055771.4:p.(Ser822=)	NC_000011.9:g.117263316T>C	(Likely) benign	1 lab	8ffe594644
17:46628179 HOXB3 G>C	17	46628179	46628179	G	C	HOXB3	c.813C>G	NM_002146.4	NP_002137.4:p.(Ser271=)	NC_000017.10:g.46628179G>C	(Likely) benign	1 lab	90022a9f65
13:103613164 MISSING Ref too long to show for this DEL>T	13	103613164	103826265	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.103613166_103826265del	VUS	1 lab	9002bc827b
1:161276701 MPZ T>C	1	161276701	161276701	T	C	MPZ	c.245A>G	NM_000530.8	NP_000521.2:p.(Tyr82Cys)	NC_000001.10:g.161276701T>C	(Likely) pathogenic	1 lab	900339c796
9:137593452 COL5A1 G>A	9	137593452	137593452	G	A	COL5A1	c.654+273G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593452G>A	(Likely) benign	1 lab	900ab8bd6c
5:148389820 SH3TC2 A>T	5	148389820	148389820	A	T	SH3TC2	c.3327+13T>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148389820A>T	(Likely) benign	1 lab	900b8ec0df
X:41333453 NYX C>T	X	41333453	41333453	C	T	NYX	c.747C>T	NM_022567.2	NP_072089.1:p.(Ala249=)	NC_000023.10:g.41333453C>T	(Likely) benign	1 lab	900bfa8282
X:49083177 CACNA1F A>G	X	49083177	49083177	A	G	CACNA1F	c.1310-13T>C	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49083177A>G	(Likely) benign	1 lab	900bfb6751
13:32910968 BRCA2 G>T	13	32910968	32910968	G	T	BRCA2	c.2476G>T	NM_000059.4	NP_000050.3:p.(Glu826Ter)	NC_000013.10:g.32910968G>T	(Likely) pathogenic	1 lab	900c26fb0b
19:49705258 TRPM4 C>T	19	49705258	49705258	C	T	TRPM4	c.2991C>T	NM_017636.4	NP_060106.2:p.(Pro997=)	NC_000019.9:g.49705258C>T	(Likely) benign	1 lab	900d2f8774
2:44049974 ABCG5 G>A	2	44049974	44049974	G	A	ABCG5	c.1425C>T	NM_022436.3	NP_071881.1:p.(Ser475=)	NC_000002.11:g.44049974G>A	(Likely) benign	1 lab	900db0acf4
15:45398438 DUOX2 T>C	15	45398438	45398438	T	C	DUOX2	c.2033A>G	NM_014080.5	NP_054799.4:p.(His678Arg)	NC_000015.9:g.45398438T>C	(Likely) benign	1 lab	9014b291b5
3:63981808 ATXN7 C>T	3	63981808	63981808	C	T	ATXN7	c.2310C>T	NM_000333.4	NP_000324.1:p.(Val770=)	NC_000003.11:g.63981808C>T	(Likely) benign	1 lab	9014fc126f
20:49511043 ADNP G>A	20	49511043	49511043	G	A	ADNP	c.208C>T	NM_001282531.3	NP_001269460.1:p.(Arg70Trp)	NC_000020.10:g.49511043G>A	(Likely) pathogenic	1 lab	901682c221
22:20724388 MISSING Ref too long to show for this DEL>T	22	20724388	21348578	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.20724390_21348578del	(Likely) pathogenic	1 lab	9016a34cf1
16:67974738 LCAT CAAAA>C	16	67974738	67974758	CAAAA	C	LCAT	c.749-361_749-358del	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67974755_67974758del	(Likely) benign	1 lab	9016b3e377
11:116701907 APOC3 TTCTTTCTTTCTTTC>T	11	116701907	116701922	TTCTTTCTTTCTTTC	T	APOC3	c.179+297_179+310del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701909_116701922del	(Likely) benign	1 lab	9017d81e9b
11:47371846 MYBPC3 T>G	11	47371846	47371846	T	G	MYBPC3	c.407-183A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371846T>G	(Likely) benign	1 lab	90182b39fe
9:107583790 ABCA1 G>A	9	107583790	107583790	G	A	ABCA1	c.2829-3C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107583790G>A	(Likely) benign	1 lab	901db38692
1:15636719 FHAD1 A>Alt too long to show for this DUP	1	15636719	15687059	A	Alt too long to show for this DUP	FHAD1	c.1039+1490_2822dup	NM_001391957.1	NP_001378886.1:p.?	NC_000001.10:g.15636722_15687059dup	VUS	1 lab	902067cc54
19:45411077 APOE A>C	19	45411077	45411077	A	C	APOE	c.182A>C	NM_001302688.2	NP_001289617.1:p.(Gln61Pro)	NC_000019.9:g.45411077A>C	VUS	1 lab	9023c46e15
4:100532471 MTTP G>A	4	100532471	100532471	G	A	MTTP	c.1868-18G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532471G>A	(Likely) benign	1 lab	9025ea2693
2:179434267 TTN A>G	2	179434267	179434267	A	G	TTN	c.76592T>C	NM_001267550.2	NP_001254479.2:p.(Phe25531Ser)	NC_000002.11:g.179434267A>G	VUS	1 lab	9029b9f564
22:29092849 MISSING Ref too long to show for this DEL>A	22	29092849	29215582	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.29092850_29215582del	(Likely) pathogenic	1 lab	902afb658e
X:123108812 STAG2 T>Alt too long to show for this DUP	X	123108812	123115498	T	Alt too long to show for this DUP	STAG2	c.-163+13107_-163+19792dup	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123108813_123115498dup	VUS	1 lab	902b2549b3
1:237870529 RYR2 C>G	1	237870529	237870529	C	G	RYR2	c.9861C>G	NM_001035.3	NP_001026.2:p.(Asn3287Lys)	NC_000001.10:g.237870529C>G	VUS	1 lab	90346f8e56
8:59409543 CYP7A1 G>A	8	59409543	59409543	G	A	CYP7A1	c.528C>T	NM_000780.4	NP_000771.2:p.(Tyr176=)	NC_000008.10:g.59409543G>A	(Likely) benign	1 lab	90366ff495
13:32914455 BRCA2 T>C	13	32914455	32914455	T	C	BRCA2	c.5963T>C	NM_000059.4	NP_000050.3:p.(Val1988Ala)	NC_000013.10:g.32914455T>C	(Likely) benign	1 lab	903697221a
18:29102157 DSG2 A>C	18	29102157	29102157	A	C	DSG2	c.635A>C	NM_001943.5	NP_001934.2:p.(Tyr212Ser)	NC_000018.9:g.29102157A>C	VUS	1 lab	9039c95cd9
20:57484478 GNAS A>C	20	57484478	57484478	A	C	GNAS	c.2588A>C	NM_080425.4	NP_536350.2:p.(His863Pro)	NC_000020.10:g.57484478A>C	VUS	1 lab	903f0d653a
9:67934746 ANKRD20A1 T>C	9	67934746	67934746	T	C	ANKRD20A1	c.516T>C	NM_032250.5	NP_115626.2:p.(Phe172=)	NC_000009.11:g.67934746T>C	(Likely) benign	1 lab	903f50ef3b
6:10398931 TFAP2A A>G	6	10398931	10398931	A	G	TFAP2A	c.1015T>C	NM_001032280.3	NP_001027451.1:p.(Cys339Arg)	NC_000006.11:g.10398931A>G	VUS	1 lab	903f9016d5
X:70444167 GJB1 C>G	X	70444167	70444167	C	G	GJB1	c.610C>G	NM_000166.6	NP_000157.1:p.(Leu204Val)	NC_000023.10:g.70444167C>G	(Likely) pathogenic	1 lab	904158c4fe
16:920861 LMF1 G>A	16	920861	920861	G	A	LMF1	c.701C>T	NM_001352018.2	NP_001338947.1:p.(Ala234Val)	NC_000016.9:g.920861G>A	VUS	1 lab	9041c826ed
7:121732998 AASS C>A	7	121732998	121732998	C	A	AASS	c.1774G>T	NM_005763.4	NP_005754.2:p.(Asp592Tyr)	NC_000007.13:g.121732998C>A	VUS	1 lab	904752a0da
3:130447530 PIK3R4 T>TA	3	130447530	130447546	T	TA	PIK3R4	c.1586-3dup	NM_014602.3	NP_055417.1:p.?	NC_000003.11:g.130447546dup	(Likely) benign	1 lab	9048851e73
21:48072941 MISSING Ref too long to show for this DEL>G	21	48072941	48095857	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.48072944_48095857del	VUS	1 lab	90497a60e7
16:57012039 CETP G>A	16	57012039	57012039	G	A	CETP	c.1018G>A	NM_000078.3	NP_000069.2:p.(Val340Ile)	NC_000016.9:g.57012039G>A	(Likely) benign	1 lab	9049eb7828
6:112463482 LAMA4 T>C	6	112463482	112463482	T	C	LAMA4	c.2485A>G	NM_002290.5	NP_002281.3:p.(Met829Val)	NC_000006.11:g.112463482T>C	VUS	1 lab	905ea68d80
19:6316489 MISSING Ref too long to show for this DEL>G	19	6316489	6350132	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.6316490_6350132del	VUS	1 lab	904b9b2bb7
2:179534257 TTN C>T	2	179534257	179534257	C	T	TTN	c.35470+62G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534257C>T	(Likely) benign	1 lab	9054737094
1:237060850 MTR T>C	1	237060850	237060850	T	C	MTR	c.3712-8T>C	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060850T>C	(Likely) benign	1 lab	9058cb5977
5:151270937 MISSING A>Alt too long to show for this DUP	5	151270937	151365881	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.151270938_151365881dup	VUS	1 lab	9058d2b295
7:150652610 KCNH2 C>T	7	150652610	150652610	C	T	KCNH2	c.-19G>A	NM_172057.3	NP_742054.1:p.?	NC_000007.13:g.150652610C>T	(Likely) benign	1 lab	9059577858
5:140745634 PCDHGA5 T>C	5	140745634	140745634	T	C	PCDHGA5	c.1737T>C	NM_018918.3	NP_061741.1:p.(Pro579=)	NC_000005.9:g.140745634T>C	(Likely) benign	1 lab	905bcde40e
1:5925168 NPHP4 C>T	1	5925168	5925168	C	T	NPHP4	c.3810G>A	NM_015102.5	NP_055917.1:p.(Glu1270=)	NC_000001.10:g.5925168C>T	(Likely) benign	1 lab	905cd469ea
6:157222610 ARID1B AG>A	6	157222610	157222612	AG	A	ARID1B	c.2128del	NM_001371656.1	NP_001358585.1:p.(Ala710ArgfsTer41)	NC_000006.11:g.157222612del	(Likely) pathogenic	1 lab	905f5a9f33
X:41465443 CASK Ref too long to show for this DEL>G	X	41465443	41639338	Ref too long to show for this DEL	G	CASK	c.278+7094_1155+3713del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41465445_41639338del	(Likely) pathogenic	1 lab	906a9c60ce
9:136220797 SURF1 T>C	9	136220797	136220797	T	C	SURF1	c.324-2A>G	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136220797T>C	(Likely) pathogenic	1 lab	906e8a136d
15:48739380 FBN1 G>A	15	48739380	48739380	G	A	FBN1	c.5672-361C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48739380G>A	(Likely) benign	1 lab	906edc36f7
11:45937310 PEX16 G>A	11	45937310	45937310	G	A	PEX16	c.303C>T	NM_004813.4	NP_004804.2:p.(Ala101=)	NC_000011.9:g.45937310G>A	(Likely) benign	1 lab	9072dba47e
7:86556236 ELAPOR2 C>CAAAAAAAAAAAAAAAAAA	7	86556236	86556257	C	CAAAAAAAAAAAAAAAAAA	ELAPOR2	c.1090-22_1090-5dup	NM_001142749.3	NP_001136221.1:p.?	NC_000007.13:g.86556240_86556257dup	(Likely) benign	1 lab	90749cc383
1:215916528 USH2A A>C	1	215916528	215916528	A	C	USH2A	c.11539T>G	NM_206933.4	NP_996816.3:p.(Cys3847Gly)	NC_000001.10:g.215916528A>C	VUS	1 lab	9074cbafad
2:179553855 TTN G>C	2	179553855	179553855	G	C	TTN	c.32020C>G	NM_001267550.2	NP_001254479.2:p.(Leu10674Val)	NC_000002.11:g.179553855G>C	VUS	1 lab	9075757400
19:40903673 PRX G>A	19	40903673	40903673	G	A	PRX	c.586C>T	NM_181882.3	NP_870998.2:p.(Arg196Ter)	NC_000019.9:g.40903673G>A	(Likely) pathogenic	1 lab	9075fc6d0e
X:21962421 SMS T>Alt too long to show for this DUP	X	21962421	21964821	T	Alt too long to show for this DUP	SMS	c.49+3431_49+5830dup	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.21962422_21964821dup	VUS	1 lab	90777b1151
X:70442965 GJB1 G>A	X	70442965	70442965	G	A	GJB1	c.-16-577G>A	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442965G>A	VUS	1 lab	9078b91b6e
11:68179052 LRP5 C>T	11	68179052	68179052	C	T	LRP5	c.2467C>T	NM_002335.4	NP_002326.2:p.(Leu823=)	NC_000011.9:g.68179052C>T	(Likely) benign	1 lab	907a65edfa
12:22046998 ABCC9 C>T	12	22046998	22046998	C	T	ABCC9	c.1770G>A	NM_020297.4	NP_064693.2:p.(Thr590=)	NC_000012.11:g.22046998C>T	VUS	1 lab	907afed9a2
16:29567294 MISSING Ref too long to show for this DEL>A	16	29567294	30332071	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567295_30332071del	(Likely) pathogenic	1 lab	907d2772c2
22:39631864 PDGFB C>A	22	39631864	39631864	C	A	PDGFB	c.79G>T	NM_002608.4	NP_002599.1:p.(Glu27Ter)	NC_000022.10:g.39631864C>A	(Likely) pathogenic	1 lab	907d80aab9
19:40909747 PRX A>C	19	40909747	40909747	A	C	PRX	c.50T>G	NM_020956.2	NP_066007.1:p.(Val17Gly)	NC_000019.9:g.40909747A>C	(Likely) benign	1 lab	9080dff9d6
5:127668831 FBN2 G>A	5	127668831	127668831	G	A	FBN2	c.4100-105C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127668831G>A	(Likely) benign	1 lab	908366e1f2
7:73183309 MISSING C>Alt too long to show for this DUP	7	73183309	73265355	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.73183311_73265355dup	VUS	1 lab	9083fbe541
2:206592695 NRP2 T>C	2	206592695	206592695	T	C	NRP2	c.1071T>C	NM_201266.2	NP_957718.1:p.(Tyr357=)	NC_000002.11:g.206592695T>C	(Likely) benign	1 lab	9084301da8
10:73453967 CDH23 G>A	10	73453967	73453967	G	A	CDH23	c.2240G>A	NM_022124.6	NP_071407.4:p.(Arg747His)	NC_000010.10:g.73453967G>A	VUS	1 lab	908577e89b
2:1653154 PXDN TGGACACCAGGCGCGGCATGGGAA>T	2	1653154	1653179	TGGACACCAGGCGCGGCATGGGAA	T	PXDN	c.2375_2397del	NM_012293.3	NP_036425.1:p.(Leu792HisfsTer67)	NC_000002.11:g.1653157_1653179del	(Likely) pathogenic	1 lab	90887a19df
8:59409654 CYP7A1 A>G	8	59409654	59409654	A	G	CYP7A1	c.417T>C	NM_000780.4	NP_000771.2:p.(Asn139=)	NC_000008.10:g.59409654A>G	(Likely) benign	1 lab	90899053f2
2:179407196 TTN A>G	2	179407196	179407196	A	G	TTN	c.97287T>C	NM_001267550.2	NP_001254479.2:p.(Gly32429=)	NC_000002.11:g.179407196A>G	(Likely) benign	1 lab	908aac0e8b
16:67645346 CTCF CAAAG>C	16	67645346	67645353	CAAAG	C	CTCF	c.615_618del	NM_006565.4	NP_006556.1:p.(Lys206ProfsTer15)	NC_000016.9:g.67645350_67645353del	(Likely) pathogenic	1 lab	908b354222
1:20971629 PINK1 G>A	1	20971629	20971629	G	A	PINK1	c.960-424G>A	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20971629G>A	(Likely) benign	1 lab	908bdf22b9
1:114067923 MISSING Ref too long to show for this DEL>A	1	114067923	114600448	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.114067924_114600448del	VUS	1 lab	9096481030
10:103964513 MISSING G>Alt too long to show for this DUP	10	103964513	104076825	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.103964515_104076825dup	VUS	1 lab	9096509702
11:116661524 APOA5 C>T	11	116661524	116661524	C	T	APOA5	c.421G>A	NM_052968.5	NP_443200.2:p.(Ala141Thr)	NC_000011.9:g.116661524C>T	VUS	1 lab	909663cef0
2:29451790 ALK T>C	2	29451790	29451790	T	C	ALK	c.2775A>G	NM_004304.5	NP_004295.2:p.(Gly925=)	NC_000002.11:g.29451790T>C	(Likely) benign	1 lab	90972b2172
8:19818545 LPL G>A	8	19818545	19818545	G	A	LPL	c.1273G>A	NM_000237.3	NP_000228.1:p.(Gly425Ser)	NC_000008.10:g.19818545G>A	VUS	1 lab	90975ca495
11:29663941 MISSING Ref too long to show for this DEL>A	11	29663941	33400789	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.29663942_33400789del	(Likely) pathogenic	1 lab	9097934e58
12:6700692 CHD4 C>T	12	6700692	6700692	C	T	CHD4	c.3280G>A	NM_001273.5	NP_001264.2:p.(Glu1094Lys)	NC_000012.11:g.6700692C>T	(Likely) pathogenic	1 lab	9098590129
12:133235981 POLE G>A	12	133235981	133235981	G	A	POLE	c.3175C>T	NM_006231.4	NP_006222.2:p.(Arg1059Cys)	NC_000012.11:g.133235981G>A	VUS	1 lab	909a373a42
6:7562954 DSP G>A	6	7562954	7562954	G	A	DSP	c.667G>A	NM_004415.4	NP_004406.2:p.(Gly223Ser)	NC_000006.11:g.7562954G>A	VUS	1 lab	909b635bac
1:3347458 PRDM16 G>A	1	3347458	3347458	G	A	PRDM16	c.3307G>A	NM_022114.4	NP_071397.3:p.(Gly1103Ser)	NC_000001.10:g.3347458G>A	VUS	1 lab	909cc91d77
6:56496674 DST C>T	6	56496674	56496674	C	T	DST	c.3864+7G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56496674C>T	(Likely) benign	1 lab	90a1cbb030
3:38647916 SCN5A G>A	3	38647916	38647916	G	A	SCN5A	c.1140+244C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647916G>A	(Likely) benign	1 lab	90a206f1ce
3:38674641 SCN5A C>T	3	38674641	38674641	C	T	SCN5A	c.158G>A	NM_198056.3	NP_932173.1:p.(Arg53Gln)	NC_000003.11:g.38674641C>T	VUS	1 lab	90a2916aa5
11:68685291 IGHMBP2 G>A	11	68685291	68685291	G	A	IGHMBP2	c.1000G>A	NM_002180.3	NP_002171.2:p.(Glu334Lys)	NC_000011.9:g.68685291G>A	(Likely) pathogenic	1 lab	90a434cf19
12:102008265 MYBPC1 C>T	12	102008265	102008265	C	T	MYBPC1	c.26-9C>T	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102008265C>T	(Likely) benign	1 lab	90a4a009e7
18:29104699 DSG2 G>A	18	29104699	29104699	G	A	DSG2	c.862G>A	NM_001943.5	NP_001934.2:p.(Val288Ile)	NC_000018.9:g.29104699G>A	VUS	1 lab	90edc50856
15:78295765 TBC1D2B T>C	15	78295765	78295765	T	C	TBC1D2B	c.2456A>G	NM_144572.2	NP_653173.1:p.(Gln819Arg)	NC_000015.9:g.78295765T>C	(Likely) benign	1 lab	90a7f169b2
8:100443751 VPS13B A>G	8	100443751	100443751	A	G	VPS13B	c.3083-14A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100443751A>G	(Likely) benign	1 lab	90ac5bc0f6
11:84617113 DLG2 G>Alt too long to show for this DUP	11	84617113	84661685	G	Alt too long to show for this DUP	DLG2	c.357+161022_357+205591dup	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84617116_84661685dup	VUS	1 lab	90ad875aa0
2:179595488 TTN C>G	2	179595488	179595488	C	G	TTN	c.17772G>C	NM_001267550.2	NP_001254479.2:p.(Lys5924Asn)	NC_000002.11:g.179595488C>G	VUS	1 lab	90af2bb298
9:79938131 VPS13A C>T	9	79938131	79938131	C	T	VPS13A	c.5979C>T	NM_033305.3	NP_150648.2:p.(Arg1993=)	NC_000009.11:g.79938131C>T	(Likely) benign	1 lab	90b1bb39a8
1:3342256 PRDM16 C>T	1	3342256	3342256	C	T	PRDM16	c.3051C>T	NM_022114.4	NP_071397.3:p.(Phe1017=)	NC_000001.10:g.3342256C>T	(Likely) benign	1 lab	90b2ca83ed
19:17060310 CPAMD8 Ref too long to show for this DEL>C	19	17060310	17087541	Ref too long to show for this DEL	C	CPAMD8	c.1759-580_2509-2274del	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17060311_17087541del	VUS	1 lab	90b3b48828
18:19353650 MIB1 T>C	18	19353650	19353650	T	C	MIB1	c.597T>C	NM_020774.4	NP_065825.1:p.(Asn199=)	NC_000018.9:g.19353650T>C	(Likely) benign	1 lab	90b90ca68d
2:1500418 TPO G>GT	2	1500418	1500419	G	GT	TPO	c.2268dup	NM_000547.6	NP_000538.3:p.(Glu757Ter)	NC_000002.11:g.1500419dup	(Likely) pathogenic	1 lab	90c11f3d8e
4:114276557 ANK2 A>G	4	114276557	114276557	A	G	ANK2	c.6783A>G	NM_001148.6	NP_001139.3:p.(Thr2261=)	NC_000004.11:g.114276557A>G	(Likely) benign	1 lab	90c162146f
9:137686985 COL5A1 T>G	9	137686985	137686985	T	G	COL5A1	c.2745+13T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137686985T>G	(Likely) benign	1 lab	90c3f97f47
15:48760901 FBN1 G>A	15	48760901	48760901	G	A	FBN1	c.4460-170C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760901G>A	(Likely) benign	1 lab	90c60338b1
19:16593359 CALR3 C>G	19	16593359	16593359	C	G	CALR3	c.820G>C	NM_145046.5	NP_659483.2:p.(Val274Leu)	NC_000019.9:g.16593359C>G	VUS	1 lab	90c68b49ce
1:198602635 MISSING Ref too long to show for this DEL>A	1	198602635	198628095	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.198602636_198628095del	VUS	1 lab	90c6a08f1a
16:70316603 AARS1 C>T	16	70316603	70316603	C	T	AARS1	c.64G>A	NM_001605.3	NP_001596.2:p.(Glu22Lys)	NC_000016.9:g.70316603C>T	(Likely) benign	1 lab	90c868c3ae
6:112575331 LAMA4 G>A	6	112575331	112575331	G	A	LAMA4	c.22C>T	NM_001105206.3	NP_001098676.2:p.(Arg8Cys)	NC_000006.11:g.112575331G>A	VUS	1 lab	90cb4dea69
2:21229323 APOB C>T	2	21229323	21229323	C	T	APOB	c.10417G>A	NM_000384.3	NP_000375.3:p.(Ala3473Thr)	NC_000002.11:g.21229323C>T	VUS	1 lab	90cddc17e9
1:161275614 MPZ C>T	1	161275614	161275614	C	T	MPZ	c.*52G>A	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275614C>T	(Likely) benign	1 lab	90cebb1fe4
16:1004757 LMF1 C>T	16	1004757	1004757	C	T	LMF1	c.-361-91G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004757C>T	(Likely) benign	1 lab	90d09d8acc
6:158311994 MISSING A>Alt too long to show for this DUP	6	158311994	158377358	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.158311995_158377358dup	VUS	1 lab	90d119ee28
19:11210933 LDLR CCAAGACGGGAAATGCATCTCCTA>C	19	11210933	11210960	CCAAGACGGGAAATGCATCTCCTA	C	LDLR	c.107_129del	NM_000527.5	NP_000518.1:p.(Asp36ValfsTer8)	NC_000019.9:g.11210938_11210960del	(Likely) pathogenic	1 lab	90d7e0bf7d
15:50612112 MISSING G>Alt too long to show for this DUP	15	50612112	50931272	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.50612114_50931272dup	VUS	1 lab	90d9823c91
11:17448674 ABCC8 A>G	11	17448674	17448674	A	G	ABCC8	c.2144T>C	NM_001287174.2	NP_001274103.1:p.(Val715Ala)	NC_000011.9:g.17448674A>G	(Likely) pathogenic	1 lab	90da4a446d
7:81916543 CACNA2D1 Ref too long to show for this DEL>A	7	81916543	81946841	Ref too long to show for this DEL	A	CACNA2D1	c.294+17610_294+47907del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81916544_81946841del	VUS	1 lab	90dce59b90
22:22706412 MISSING Ref too long to show for this DEL>A	22	22706412	23258369	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22706413_23258369del	VUS	1 lab	90de37a9b0
1:112524849 KCND3 T>G	1	112524849	112524849	T	G	KCND3	c.500A>C	NM_004980.5	NP_004971.2:p.(Gln167Pro)	NC_000001.10:g.112524849T>G	VUS	1 lab	90deb4238f
1:74818936 FPGT-TNNI3K G>GT	1	74818936	74818946	G	GT	FPGT-TNNI3K	c.1236-4dup	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74818946dup	(Likely) benign	1 lab	90df0e64d8
11:116706965 APOA1 C>T	11	116706965	116706965	C	T	APOA1	c.363G>A	NM_000039.3	NP_000030.1:p.(Val121=)	NC_000011.9:g.116706965C>T	VUS	1 lab	90e921cb12
X:123233426 STAG2 A>Alt too long to show for this DUP	X	123233426	123302414	A	Alt too long to show for this DUP	STAG2				NC_000023.10:g.123233427_123302414dup	VUS	1 lab	90eda6a6b0
5:151273524 MISSING A>Alt too long to show for this DUP	5	151273524	151365881	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.151273525_151365881dup	VUS	1 lab	90eff2b072
4:106367546 PPA2 G>A	4	106367546	106367546	G	A	PPA2	c.435C>T	NM_176869.3	NP_789845.1:p.(Leu145=)	NC_000004.11:g.106367546G>A	(Likely) benign	1 lab	90f2dd6791
19:35521747 SCN1B T>C	19	35521747	35521747	T	C	SCN1B	c.23T>C	NM_199037.5	NP_950238.1:p.(Val8Ala)	NC_000019.9:g.35521747T>C	VUS	1 lab	90f49e364c
12:32946003 PKP2 C>T	12	32946003	32946003	C	T	PKP2	c.2490-338G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32946003C>T	(Likely) benign	1 lab	90f54fb1e9
6:31324494 HLA-B AGGT>A	6	31324494	31324497	AGGT	A	HLA-B	c.311_313del	NM_005514.8	NP_005505.2:p.(Asn104_Leu105delinsMet)	NC_000006.11:g.31324495_31324497del	(Likely) benign	1 lab	90f6027111
1:10041207 NMNAT1 T>A	1	10041207	10041207	T	A	NMNAT1	c.418T>A	NM_001297778.1	NP_001284707.1:p.(Ser140Thr)	NC_000001.10:g.10041207T>A	VUS	1 lab	90f6e1d18e
19:40383809 FCGBP G>A	19	40383809	40383809	G	A	FCGBP	c.9801C>T	NM_003890.2	NP_003881.2:p.(Pro3267=)	NC_000019.9:g.40383809G>A	(Likely) benign	1 lab	90fdbb8f10
2:238243370 COL6A3 C>T	2	238243370	238243370	C	T	COL6A3	c.9128G>A	NM_004369.4	NP_004360.2:p.(Arg3043His)	NC_000002.11:g.238243370C>T	VUS	1 lab	90fe225ad5
2:179638950 TTN A>G	2	179638950	179638950	A	G	TTN	c.7041T>C	NM_001267550.2	NP_001254479.2:p.(Cys2347=)	NC_000002.11:g.179638950A>G	(Likely) benign	1 lab	910023675a
4:100532397 MTTP C>T	4	100532397	100532397	C	T	MTTP	c.1867C>T	NM_000253.4	NP_000244.2:p.(Arg623Cys)	NC_000004.11:g.100532397C>T	(Likely) pathogenic	1 lab	9100cbe1ac
4:367201 ZNF141 C>A	4	367201	367201	C	A	ZNF141	c.975C>A	NM_003441.4	NP_003432.1:p.(Thr325=)	NC_000004.11:g.367201C>A	(Likely) benign	1 lab	9106d5ee14
2:97851078 ANKRD36 A>AG	2	97851078	97851079	A	AG	ANKRD36	c.1965_1966insG	NM_001354587.1	NP_001341516.1:p.(Lys656GlufsTer5)	NC_000002.11:g.97851078_97851079insG	(Likely) benign	1 lab	9109795137
2:27592090 EIF2B4 T>TA	2	27592090	27592101	T	TA	EIF2B4	c.167-12dup	NM_001318966.2	NP_001305895.1:p.?	NC_000002.11:g.27592101dup	(Likely) benign	1 lab	910a406e18
3:30655607 TGFBR2 C>CTT	3	30655607	30655626	C	CTT	TGFBR2	c.94+7156_94+7157dup	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30655625_30655626dup	(Likely) benign	1 lab	910ccde40e
2:179610839 TTN T>C	2	179610839	179610839	T	C	TTN	c.16288A>G	NM_133379.5	NP_596870.2:p.(Ser5430Gly)	NC_000002.11:g.179610839T>C	(Likely) benign	1 lab	910ed4240b
3:38608294 SCN5A T>C	3	38608294	38608294	T	C	SCN5A	c.3667-221A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38608294T>C	(Likely) benign	1 lab	9111080559
2:44104941 ABCG8 G>C	2	44104941	44104941	G	C	ABCG8	c.1911G>C	NM_022437.3	NP_071882.1:p.(Ser637=)	NC_000002.11:g.44104941G>C	(Likely) benign	1 lab	9117fc8396
19:40392491 FCGBP T>G	19	40392491	40392491	T	G	FCGBP	c.8013A>C	NM_003890.2	NP_003881.2:p.(Pro2671=)	NC_000019.9:g.40392491T>G	(Likely) benign	1 lab	911a0c123d
16:57007652 CETP A>G	16	57007652	57007652	A	G	CETP	c.930+230A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007652A>G	(Likely) benign	1 lab	918954184d
7:21750215 DNAH11 G>A	7	21750215	21750215	G	A	DNAH11	c.6728G>A	NM_001277115.2	NP_001264044.1:p.(Arg2243Gln)	NC_000007.13:g.21750215G>A	VUS	1 lab	911ad503d0
8:19809435 LPL G>A	8	19809435	19809435	G	A	LPL	c.405G>A	NM_000237.3	NP_000228.1:p.(Val135=)	NC_000008.10:g.19809435G>A	(Likely) benign	1 lab	911d268388
1:197404290 CRB1 A>G	1	197404290	197404290	A	G	CRB1	c.3225A>G	NM_001257965.2	NP_001244894.1:p.(Thr1075=)	NC_000001.10:g.197404290A>G	(Likely) benign	1 lab	911dac4068
1:66058439 LEPR G>A	1	66058439	66058439	G	A	LEPR	c.594G>A	NM_001003679.3	NP_001003679.1:p.(Val198=)	NC_000001.10:g.66058439G>A	(Likely) benign	1 lab	911ff64472
18:25570107 CDH2 T>C	18	25570107	25570107	T	C	CDH2	c.1552A>G	NM_001792.5	NP_001783.2:p.(Thr518Ala)	NC_000018.9:g.25570107T>C	VUS	1 lab	912080a0b9
9:107584949 ABCA1 CTG>C	9	107584949	107584953	CTG	C	ABCA1	c.2657-3_2657-2del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107584952_107584953del	(Likely) benign	1 lab	9123d6f75e
4:103806378 CISD2 G>C	4	103806378	103806378	G	C	CISD2	c.109G>C	NM_001008388.5	NP_001008389.1:p.(Glu37Gln)	NC_000004.11:g.103806378G>C	(Likely) pathogenic	1 lab	9127a4c011
11:47371776 MYBPC3 A>G	11	47371776	47371776	A	G	MYBPC3	c.407-113T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371776A>G	(Likely) benign	1 lab	912eca206a
2:179587927 TTN G>T	2	179587927	179587927	G	T	TTN	c.21807C>A	NM_001267550.2	NP_001254479.2:p.(Asn7269Lys)	NC_000002.11:g.179587927G>T	VUS	1 lab	912f2186cc
X:135956370 RBMX G>A	X	135956370	135956370	G	A	RBMX	c.1107C>T	NM_002139.4	NP_002130.2:p.(Arg369=)	NC_000023.10:g.135956370G>A	(Likely) benign	1 lab	913082cb77
11:47359917 MYBPC3 C>T	11	47359917	47359917	C	T	MYBPC3	c.2308+154G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359917C>T	(Likely) benign	1 lab	91324b0571
6:20599109 CDKAL1 Ref too long to show for this DEL>T	6	20599109	20662434	Ref too long to show for this DEL	T	CDKAL1	c.286+50178_371+12826del	NM_017774.3	NP_060244.2:p.?	NC_000006.11:g.20599114_20662434del	VUS	1 lab	9132ca31cf
9:107622498 ABCA1 A>C	9	107622498	107622498	A	C	ABCA1	c.543+1462T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107622498A>C	(Likely) benign	1 lab	913465ec94
18:21124909 NPC1 C>CCCA	18	21124909	21124912	C	CCCA	NPC1	c.1947+14_1947+15insTGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124911_21124912insACC	(Likely) benign	1 lab	913b749ec8
2:220081563 ABCB6 G>A	2	220081563	220081563	G	A	ABCB6	c.688-9C>T	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220081563G>A	(Likely) benign	1 lab	913dfad43b
19:1440111 RPS15 C>G	19	1440111	1440111	C	G	RPS15	c.204C>G	NM_001308226.2	NP_001295155.1:p.(Arg68=)	NC_000019.9:g.1440111C>G	(Likely) benign	1 lab	913e2f1d0e
2:179422248 TTN AGTGACCCATGGTGTAGATG>A	2	179422248	179422270	AGTGACCCATGGTGTAGATG	A	TTN	c.87722_87740del	NM_001267550.2	NP_001254479.2:p.(Pro29241LeufsTer24)	NC_000002.11:g.179422252_179422270del	(Likely) pathogenic	1 lab	913e687237
11:116661104 APOA5 C>T	11	116661104	116661104	C	T	APOA5	c.841G>A	NM_052968.5	NP_443200.2:p.(Val281Met)	NC_000011.9:g.116661104C>T	VUS	1 lab	913e6bb3a6
3:43607224 ANO10 CAA>C	3	43607224	43607242	CAA	C	ANO10	c.1219-7_1219-6del	NM_001346464.2	NP_001333393.1:p.?	NC_000003.11:g.43607241_43607242del	(Likely) benign	1 lab	913f1e9983
2:220493968 SLC4A3 G>A	2	220493968	220493968	G	A	SLC4A3	c.320G>A	NM_201574.3	NP_963868.3:p.(Arg107Lys)	NC_000002.11:g.220493968G>A	(Likely) benign	1 lab	913f95923d
2:211473157 CPS1 C>A	2	211473157	211473157	C	A	CPS1	c.2265C>A	NM_001875.5	NP_001866.2:p.(Ser755=)	NC_000002.11:g.211473157C>A	(Likely) benign	1 lab	91463677e0
17:39974630 FKBP10 G>T	17	39974630	39974630	G	T	FKBP10	c.582-4G>T	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39974630G>T	(Likely) benign	1 lab	91499f0577
13:96375618 DNAJC3 G>A	13	96375618	96375618	G	A	DNAJC3	c.316G>A	NM_006260.5	NP_006251.1:p.(Ala106Thr)	NC_000013.10:g.96375618G>A	VUS	1 lab	914a322c53
1:55509711 PCSK9 A>G	1	55509711	55509711	A	G	PCSK9	c.399+4A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509711A>G	(Likely) benign	1 lab	914d459667
11:114398627 NXPE1 C>CA	11	114398627	114398637	C	CA	NXPE1	c.408-5dup	NM_152315.5	NP_689528.2:p.?	NC_000011.9:g.114398637dup	(Likely) benign	1 lab	914f5ee297
9:94817760 SPTLC1 C>T	9	94817760	94817760	C	T	SPTLC1	c.242G>A	NM_001368273.1	NP_001355202.1:p.(Arg81His)	NC_000009.11:g.94817760C>T	VUS	1 lab	914fed5be2
19:55316465 KIR2DL4 A>G	19	55316465	55316465	A	G	KIR2DL4	c.294A>G	NM_001080772.2	NP_001074241.1:p.(Arg98=)	NC_000019.9:g.55316465A>G	(Likely) benign	1 lab	91506eae91
10:61831271 ANK3 T>C	10	61831271	61831271	T	C	ANK3	c.9368A>G	NM_020987.5	NP_066267.2:p.(Lys3123Arg)	NC_000010.10:g.61831271T>C	(Likely) benign	1 lab	915447d31d
19:11226786 LDLR G>A	19	11226786	11226786	G	A	LDLR	c.1603G>A	NM_000527.5	NP_000518.1:p.(Asp535Asn)	NC_000019.9:g.11226786G>A	VUS	1 lab	9158d4c573
2:21225567 APOB A>G	2	21225567	21225567	A	G	APOB	c.12727T>C	NM_000384.3	NP_000375.3:p.(Phe4243Leu)	NC_000002.11:g.21225567A>G	VUS	1 lab	915a5e2f12
4:100504908 MTTP G>A	4	100504908	100504908	G	A	MTTP	c.393+234G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504908G>A	(Likely) benign	1 lab	916185b645
17:10312792 MYH8 C>T	17	10312792	10312792	C	T	MYH8	c.1701G>A	NM_002472.3	NP_002463.2:p.(Gln567=)	NC_000017.10:g.10312792C>T	(Likely) benign	1 lab	9161f3c095
1:213037096 FLVCR1 A>G	1	213037096	213037096	A	G	FLVCR1	c.768A>G	NM_014053.4	NP_054772.1:p.(Pro256=)	NC_000001.10:g.213037096A>G	(Likely) benign	1 lab	9161fd12da
15:72105824 NR2E3 C>T	15	72105824	72105824	C	T	NR2E3	c.843C>T	NM_016346.4	NP_057430.1:p.(Pro281=)	NC_000015.9:g.72105824C>T	(Likely) benign	1 lab	91656783de
17:48272468 COL1A1 G>T	17	48272468	48272468	G	T	COL1A1	c.1300-7C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272468G>T	(Likely) benign	1 lab	9165f7771e
12:125299620 SCARB1 C>T	12	125299620	125299620	C	T	SCARB1	c.325G>A	NM_001367981.1	NP_001354910.1:p.(Asp109Asn)	NC_000012.11:g.125299620C>T	VUS	1 lab	916b69d50c
12:21375307 SLCO1B1 A>G	12	21375307	21375307	A	G	SLCO1B1	c.1747+9A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375307A>G	(Likely) benign	1 lab	916b9a3f51
5:150922080 FAT2 T>C	5	150922080	150922080	T	C	FAT2	c.8608A>G	NM_001447.3	NP_001438.1:p.(Thr2870Ala)	NC_000005.9:g.150922080T>C	(Likely) benign	1 lab	916deb075c
9:107579641 ABCA1 G>A	9	107579641	107579641	G	A	ABCA1	c.3507C>T	NM_005502.4	NP_005493.2:p.(Ser1169=)	NC_000009.11:g.107579641G>A	(Likely) benign	1 lab	916e3dfa2c
6:112513052 LAMA4 T>A	6	112513052	112513052	T	A	LAMA4	c.504A>T	NM_002290.5	NP_002281.3:p.(Arg168Ser)	NC_000006.11:g.112513052T>A	VUS	1 lab	916e6a74cb
11:66283163 BBS1 G>C	11	66283163	66283163	G	C	BBS1	c.480-1G>C	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283163G>C	(Likely) pathogenic	1 lab	916e8d3a41
8:1893837 ARHGEF10 G>A	8	1893837	1893837	G	A	ARHGEF10	c.3469+16G>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1893837G>A	(Likely) benign	1 lab	9170578c17
14:76249857 TTLL5 C>G	14	76249857	76249857	C	G	TTLL5	c.2970C>G	NM_015072.5	NP_055887.3:p.(Pro990=)	NC_000014.8:g.76249857C>G	(Likely) benign	1 lab	91713036d9
11:76872132 MYO7A C>T	11	76872132	76872132	C	T	MYO7A	c.1314C>T	NM_000260.4	NP_000251.3:p.(Ile438=)	NC_000011.9:g.76872132C>T	(Likely) benign	1 lab	917283783b
1:55525144 PCSK9 G>A	1	55525144	55525144	G	A	PCSK9	c.1504-15G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525144G>A	(Likely) benign	1 lab	918a2fc91d
X:32779871 DMD Ref too long to show for this DEL>C	X	32779871	32815490	Ref too long to show for this DEL	C	DMD	c.649+12120_649+47738del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32779872_32815490del	(Likely) pathogenic	1 lab	9172e0027e
2:179588847 TTN T>C	2	179588847	179588847	T	C	TTN	c.21139A>G	NM_001267550.2	NP_001254479.2:p.(Thr7047Ala)	NC_000002.11:g.179588847T>C	VUS	1 lab	91746b3424
14:74972791 LTBP2 G>A	14	74972791	74972791	G	A	LTBP2	c.4137C>T	NM_000428.3	NP_000419.1:p.(Tyr1379=)	NC_000014.8:g.74972791G>A	(Likely) benign	1 lab	91757e69f8
1:183201363 LAMC2 G>C	1	183201363	183201363	G	C	LAMC2	c.1899G>C	NM_005562.3	NP_005553.2:p.(Leu633=)	NC_000001.10:g.183201363G>C	(Likely) benign	1 lab	9178e9df5b
4:157755375 PDGFC Ref too long to show for this DEL>T	4	157755375	157767889	Ref too long to show for this DEL	T	PDGFC	c.314+3486_314+15997del	NM_016205.3	NP_057289.1:p.?	NC_000004.11:g.157755378_157767889del	VUS	1 lab	9179fce153
10:48413851 GDF2 G>A	10	48413851	48413851	G	A	GDF2	c.1017C>T	NM_016204.4	NP_057288.1:p.(Ile339=)	NC_000010.10:g.48413851G>A	(Likely) benign	1 lab	91822556a2
19:45451796 APOC2 T>G	19	45451796	45451796	T	G	APOC2	c.55+6T>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451796T>G	(Likely) pathogenic	1 lab	918379e8f0
11:117199440 CEP164 C>Alt too long to show for this DUP	11	117199440	117233262	C	Alt too long to show for this DUP	CEP164	c.-98+821_687+8dup	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117199441_117233262dup	VUS	1 lab	91847cc192
X:122336597 GRIA3 A>AG	X	122336597	122336599	A	AG	GRIA3	c.380dup	NM_001256743.2	NP_001243672.1:p.(Gly128TrpfsTer16)	NC_000023.10:g.122336599dup	(Likely) benign	1 lab	9185c4fe4a
1:152284623 FLG G>A	1	152284623	152284623	G	A	FLG	c.2739C>T	NM_002016.2	NP_002007.1:p.(His913=)	NC_000001.10:g.152284623G>A	(Likely) benign	1 lab	9185d81e21
11:47371736 MYBPC3 A>G	11	47371736	47371736	A	G	MYBPC3	c.407-73T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371736A>G	(Likely) benign	1 lab	9186a39866
2:219677330 CYP27A1 C>T	2	219677330	219677330	C	T	CYP27A1	c.702C>T	NM_000784.4	NP_000775.1:p.(Pro234=)	NC_000002.11:g.219677330C>T	(Likely) benign	1 lab	9188f6438f
9:136221658 SURF1 A>G	9	136221658	136221658	A	G	SURF1	c.240+21T>C	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136221658A>G	(Likely) benign	1 lab	918a324873
2:21228068 APOB G>C	2	21228068	21228068	G	C	APOB	c.11672C>G	NM_000384.3	NP_000375.3:p.(Ser3891Cys)	NC_000002.11:g.21228068G>C	(Likely) benign	1 lab	918b0dba02
19:10922991 DNM2 G>T	19	10922991	10922991	G	T	DNM2	c.1609G>T	NM_001005360.3	NP_001005360.1:p.(Gly537Cys)	NC_000019.9:g.10922991G>T	(Likely) pathogenic	1 lab	918e924515
2:39250339 SOS1 C>T	2	39250339	39250339	C	T	SOS1	c.1230G>A	NM_005633.4	NP_005624.2:p.(Gln410=)	NC_000002.11:g.39250339C>T	(Likely) benign	1 lab	918fdd9306
2:186922113 MISSING Ref too long to show for this DEL>A	2	186922113	187237561	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.186922115_187237561del	VUS	1 lab	918ffc849b
2:179577434 TTN G>C	2	179577434	179577434	G	C	TTN	c.27318C>G	NM_001267550.2	NP_001254479.2:p.(Leu9106=)	NC_000002.11:g.179577434G>C	(Likely) benign	1 lab	9190f34911
7:128489589 FLNC G>A	7	128489589	128489589	G	A	FLNC	c.5156G>A	NM_001458.5	NP_001449.3:p.(Arg1719His)	NC_000007.13:g.128489589G>A	VUS	1 lab	9191319a23
1:31409639 PUM1 G>A	1	31409639	31409639	G	A	PUM1	c.3286C>T	NM_001020658.2	NP_001018494.1:p.(Arg1096Cys)	NC_000001.10:g.31409639G>A	VUS	1 lab	9191af30fe
6:16145533 MYLIP C>T	6	16145533	16145533	C	T	MYLIP	c.1233C>T	NM_013262.4	NP_037394.2:p.(Cys411=)	NC_000006.11:g.16145533C>T	(Likely) benign	1 lab	9191bb7cf4
X:31200832 DMD A>AT	X	31200832	31200842	A	AT	DMD	c.9605+22dup	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31200842dup	(Likely) benign	1 lab	9193f17f55
11:76829212 CAPN5 C>T	11	76829212	76829212	C	T	CAPN5	c.981C>T	NM_004055.5	NP_004046.2:p.(Phe327=)	NC_000011.9:g.76829212C>T	(Likely) benign	1 lab	91941c0b2d
2:44058988 ABCG5 T>C	2	44058988	44058988	T	C	ABCG5	c.421A>G	NM_022436.3	NP_071881.1:p.(Ser141Gly)	NC_000002.11:g.44058988T>C	VUS	1 lab	919606d4b9
2:179498146 TTN C>T	2	179498146	179498146	C	T	TTN	c.42940G>A	NM_001267550.2	NP_001254479.2:p.(Val14314Ile)	NC_000002.11:g.179498146C>T	VUS	1 lab	91972f2317
2:189868734 COL3A1 C>T	2	189868734	189868734	C	T	COL3A1	c.2688C>T	NM_000090.4	NP_000081.2:p.(Ser896=)	NC_000002.11:g.189868734C>T	(Likely) benign	1 lab	9197a8f041
16:57004892 CETP C>T	16	57004892	57004892	C	T	CETP	c.528-53C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57004892C>T	(Likely) benign	1 lab	9197d32c7b
2:179570041 TTN C>A	2	179570041	179570041	C	A	TTN	c.29464G>T	NM_001267550.2	NP_001254479.2:p.(Asp9822Tyr)	NC_000002.11:g.179570041C>A	VUS	1 lab	9198778496
X:50350728 SHROOM4 T>TTCC	X	50350728	50350750	T	TTCC	SHROOM4	c.3411_3413dup	NM_020717.4	NP_065768.2:p.(Glu1151dup)	NC_000023.10:g.50350748_50350750dup	(Likely) benign	1 lab	9198891ec4
19:8197983 FBN3 G>A	19	8197983	8197983	G	A	FBN3	c.1599C>T	NM_032447.5	NP_115823.3:p.(Asn533=)	NC_000019.9:g.8197983G>A	(Likely) benign	1 lab	9199ab73ba
19:10934453 DNM2 C>T	19	10934453	10934453	C	T	DNM2	c.1782-11C>T	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10934453C>T	(Likely) benign	1 lab	919f51f197
7:41716942 MISSING Ref too long to show for this DEL>G	7	41716942	41737628	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.41716943_41737628del	VUS	1 lab	91a01ae477
9:139327573 INPP5E T>TTCCTGCCACGCCCACCCC	9	139327573	139327577	T	TTCCTGCCACGCCCACCCC	INPP5E	c.1159+33_1159+34insGGGGTGGGCGTGGCAGGA	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327576_139327577insTGCCACGCCCACCCCTCC	(Likely) benign	1 lab	91a64761d0
10:90988013 LIPA G>C	10	90988013	90988013	G	C	LIPA	c.372C>G	NM_000235.4	NP_000226.2:p.(Thr124=)	NC_000010.10:g.90988013G>C	(Likely) benign	1 lab	91a8181b52
19:10262533 DNMT1 G>A	19	10262533	10262533	G	A	DNMT1	c.2020-10C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10262533G>A	(Likely) benign	1 lab	91b031f5a9
3:38595885 SCN5A G>C	3	38595885	38595885	G	C	SCN5A	c.4698C>G	NM_198056.3	NP_932173.1:p.(Leu1566=)	NC_000003.11:g.38595885G>C	(Likely) benign	1 lab	91b50e5057
3:49662747 BSN C>T	3	49662747	49662747	C	T	BSN	c.564C>T	NM_003458.4	NP_003449.2:p.(Asn188=)	NC_000003.11:g.49662747C>T	(Likely) benign	1 lab	91b8c938d4
X:138619304 F9 G>A	X	138619304	138619304	G	A	F9	c.224G>A	NM_000133.4	NP_000124.1:p.(Arg75Gln)	NC_000023.10:g.138619304G>A	(Likely) pathogenic	1 lab	91b98a8814
4:41748127 PHOX2B G>A	4	41748127	41748127	G	A	PHOX2B	c.642C>T	NM_003924.4	NP_003915.2:p.(Gly214=)	NC_000004.11:g.41748127G>A	(Likely) benign	1 lab	91bd6117d1
2:15307184 NBAS C>T	2	15307184	15307184	C	T	NBAS	c.7104G>A	NM_015909.4	NP_056993.2:p.(Gln2368=)	NC_000002.11:g.15307184C>T	(Likely) benign	1 lab	91bd86557b
1:6533393 PLEKHG5 G>C	1	6533393	6533393	G	C	PLEKHG5	c.713C>G	NM_198681.4	NP_941374.3:p.(Thr238Ser)	NC_000001.10:g.6533393G>C	(Likely) benign	1 lab	91c035394e
16:58559124 CNOT1 A>G	16	58559124	58559124	A	G	CNOT1	c.6728T>C	NM_001265612.2	NP_001252541.1:p.(Met2243Thr)	NC_000016.9:g.58559124A>G	VUS	1 lab	91c351d19f
16:21379628 MISSING Ref too long to show for this DEL>T	16	21379628	21841456	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.21379629_21841456del	VUS	1 lab	91c6748f93
X:41203323 DDX3X C>T	X	41203323	41203323	C	T	DDX3X	c.806C>T	NM_001193416.3	NP_001180345.1:p.(Ser269Phe)	NC_000023.10:g.41203323C>T	(Likely) pathogenic	1 lab	91c965658b
16:8989604 USP7 C>A	16	8989604	8989604	C	A	USP7	c.2523-6G>T	NM_001286458.2	NP_001273387.1:p.?	NC_000016.9:g.8989604C>A	(Likely) benign	1 lab	91ca927a3c
1:235922290 LYST C>T	1	235922290	235922290	C	T	LYST	c.6863G>A	NM_001301365.1	NP_001288294.1:p.(Arg2288Gln)	NC_000001.10:g.235922290C>T	VUS	1 lab	91d0373206
2:29287854 PCARE G>A	2	29287854	29287854	G	A	PCARE	c.3748C>T	NM_001029883.3	NP_001025054.1:p.(Arg1250Cys)	NC_000002.11:g.29287854G>A	VUS	1 lab	91d0900905
10:26465331 MYO3A Ref too long to show for this DEL>G	10	26465331	26478603	Ref too long to show for this DEL	G	MYO3A	c.4294-298_4439-3531del	NM_017433.5	NP_059129.3:p.?	NC_000010.10:g.26465332_26478603del	VUS	1 lab	91d38a1037
1:155657901 YY1AP1 A>G	1	155657901	155657901	A	G	YY1AP1	c.355T>C	NM_001198903.1	NP_001185832.1:p.(Ser119Pro)	NC_000001.10:g.155657901A>G	(Likely) benign	1 lab	91d586cc86
13:36241645 NBEA T>C	13	36241645	36241645	T	C	NBEA	c.8536T>C	NM_015678.5	NP_056493.3:p.(Phe2846Leu)	NC_000013.10:g.36241645T>C	VUS	1 lab	91d80a4cf2
14:105180568 INF2 C>T	14	105180568	105180568	C	T	INF2	c.3069C>T	NM_022489.4	NP_071934.3:p.(Pro1023=)	NC_000014.8:g.105180568C>T	(Likely) benign	1 lab	91d9636f6b
6:100868842 SIM1 G>A	6	100868842	100868842	G	A	SIM1	c.999-8C>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100868842G>A	(Likely) benign	1 lab	91dc172b3d
22:25023868 GGT1 GA>G	22	25023868	25023871	GA	G	GGT1	c.1261del	NM_001288833.2	NP_001275762.1:p.(Met421TrpfsTer75)	NC_000022.10:g.25023871del	VUS	1 lab	91ded23fc2
1:161275787 MPZ A>C	1	161275787	161275787	A	C	MPZ	c.646-20T>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275787A>C	VUS	1 lab	91df3c480f
6:65336021 EYS G>A	6	65336021	65336021	G	A	EYS	c.3561C>T	NM_001292009.2	NP_001278938.1:p.(Cys1187=)	NC_000006.11:g.65336021G>A	(Likely) benign	1 lab	91e033f3d1
2:44047240 ABCG5 C>A	2	44047240	44047240	C	A	ABCG5	c.1464-1G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047240C>A	(Likely) pathogenic	1 lab	91e1ae31eb
X:41383297 CASK GA>G	X	41383297	41383311	GA	G	CASK	c.2506-11del	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41383311del	(Likely) benign	1 lab	91e244c87f
5:16565897 RETREG1 G>A	5	16565897	16565897	G	A	RETREG1	c.433C>T	NM_001034850.3	NP_001030022.1:p.(Gln145Ter)	NC_000005.9:g.16565897G>A	(Likely) pathogenic	1 lab	91e2f859b3
6:112479974 LAMA4 G>A	6	112479974	112479974	G	A	LAMA4	c.1756C>T	NM_002290.5	NP_002281.3:p.(His586Tyr)	NC_000006.11:g.112479974G>A	VUS	1 lab	91e6b604fe
9:109690190 ZNF462 C>T	9	109690190	109690190	C	T	ZNF462	c.3997C>T	NM_021224.6	NP_067047.4:p.(Arg1333Trp)	NC_000009.11:g.109690190C>T	VUS	1 lab	91e8b00786
1:150525461 ADAMTSL4 T>G	1	150525461	150525461	T	G	ADAMTSL4	c.166T>G	NM_019032.6	NP_061905.2:p.(Cys56Gly)	NC_000001.10:g.150525461T>G	VUS	1 lab	91eb82ba72
9:1051614 DMRT2 A>T	9	1051614	1051614	A	T	DMRT2				NC_000009.11:g.1051614A>T	(Likely) pathogenic	1 lab	91edf8ba52
12:122260619 SETD1B G>A	12	122260619	122260619	G	A	SETD1B	c.4134G>A	NM_001353345.2	NP_001340274.1:p.(Thr1378=)	NC_000012.11:g.122260619G>A	(Likely) benign	1 lab	91eea5f110
14:99976639 CCNK G>C	14	99976639	99976639	G	C	CCNK	c.1263G>C	NM_001099402.2	NP_001092872.1:p.(Pro421=)	NC_000014.8:g.99976639G>C	(Likely) benign	1 lab	91f3b1141d
15:22765626 MISSING C>Alt too long to show for this DUP	15	22765626	23066837	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22765628_23066837dup	VUS	1 lab	91f3f81e6e
X:77254007 ATP7A C>G	X	77254007	77254007	C	G	ATP7A	c.1369C>G	NM_000052.7	NP_000043.4:p.(Pro457Ala)	NC_000023.10:g.77254007C>G	VUS	1 lab	91f43aa0e3
X:76891438 ATRX A>C	X	76891438	76891438	A	C	ATRX	c.4667T>G	NM_000489.6	NP_000480.3:p.(Met1556Arg)	NC_000023.10:g.76891438A>C	(Likely) pathogenic	1 lab	91f543fda3
8:43037370 HGSNAT C>G	8	43037370	43037370	C	G	HGSNAT	c.1095C>G	NM_001363227.2	NP_001350156.1:p.(Leu365=)	NC_000008.10:g.43037370C>G	(Likely) benign	1 lab	91f8d14d76
7:100853807 PLOD3 G>A	7	100853807	100853807	G	A	PLOD3	c.1500+6C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853807G>A	(Likely) benign	1 lab	91faae258d
2:179541961 TTN G>C	2	179541961	179541961	G	C	TTN	c.34345C>G	NM_001267550.2	NP_001254479.2:p.(Pro11449Ala)	NC_000002.11:g.179541961G>C	(Likely) benign	1 lab	91fb241ca5
4:75015843 MISSING Ref too long to show for this DEL>C	4	75015843	75126695	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.75015845_75126695del	VUS	1 lab	91fb9d1d0d
11:108155163 ATM A>G	11	108155163	108155163	A	G	ATM	c.3956A>G	NM_000051.4	NP_000042.3:p.(Tyr1319Cys)	NC_000011.9:g.108155163A>G	VUS	1 lab	91fcf941bd
3:178947841 MISSING G>Alt too long to show for this DUP	3	178947841	179254172	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.178947844_179254172dup	VUS	1 lab	91fcf9c871
15:85410850 ALPK3 C>T	15	85410850	85410850	C	T	ALPK3	c.4772+254C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410850C>T	(Likely) benign	1 lab	91fd618447
11:47367027 MYBPC3 T>C	11	47367027	47367027	T	C	MYBPC3	c.1090+731A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367027T>C	(Likely) benign	1 lab	91fe550752
9:107620851 ABCA1 T>G	9	107620851	107620851	T	G	ABCA1	c.672A>C	NM_005502.4	NP_005493.2:p.(Ala224=)	NC_000009.11:g.107620851T>G	(Likely) benign	1 lab	9205e40f92
1:13718590 PRAMEF17 C>T	1	13718590	13718590	C	T	PRAMEF17	c.1053C>T	NM_001099851.3	NP_001093321.1:p.(Leu351=)	NC_000001.10:g.13718590C>T	(Likely) benign	1 lab	920606a5ce
11:2869038 KCNQ1 G>A	11	2869038	2869038	G	A	KCNQ1	c.1836G>A	NM_000218.3	NP_000209.2:p.(Met612Ile)	NC_000011.9:g.2869038G>A	VUS	1 lab	920776424b
2:170094763 LRP2 G>C	2	170094763	170094763	G	C	LRP2	c.4344C>G	NM_004525.3	NP_004516.2:p.(Ala1448=)	NC_000002.11:g.170094763G>C	(Likely) benign	1 lab	920b1d500d
2:179611851 TTN CAG>C	2	179611851	179611855	CAG	C	TTN	c.15274_15275del	NM_133379.5	NP_596870.2:p.(Leu5092GlyfsTer39)	NC_000002.11:g.179611854_179611855del	(Likely) benign	1 lab	920b335899
9:36846817 PAX5 G>T	9	36846817	36846817	G	T	PAX5	c.1099+23C>A	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36846817G>T	(Likely) benign	1 lab	920b99e5ac
11:47373852 MYBPC3 C>A	11	47373852	47373852	C	A	MYBPC3	c.25+322G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373852C>A	(Likely) benign	1 lab	920be57f96
10:55719596 PCDH15 C>A	10	55719596	55719596	C	A	PCDH15	c.3033G>T	NM_001142771.2	NP_001136243.1:p.(Val1011=)	NC_000010.10:g.55719596C>A	(Likely) benign	1 lab	920c2a5a8b
6:44233403 MISSING G>A	6	44233403	44233403	G	A	MISSING				NC_000006.11:g.44233403G>A	(Likely) benign	1 lab	9211aa26c9
11:116660554 APOA5 C>CCT	11	116660554	116660559	C	CCT	APOA5	c.*288_*289dup	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660558_116660559dup	(Likely) benign	1 lab	92120e744d
16:71539197 MISSING Ref too long to show for this DEL>C	16	71539197	71581805	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.71539201_71581805del	VUS	1 lab	9213786355
2:112686980 MERTK C>G	2	112686980	112686980	C	G	MERTK	c.345C>G	NM_006343.3	NP_006334.2:p.(Cys115Trp)	NC_000002.11:g.112686980C>G	(Likely) pathogenic	1 lab	92140bd840
18:7033112 LAMA1 G>T	18	7033112	7033112	G	T	LAMA1	c.2052-18C>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7033112G>T	(Likely) benign	1 lab	921512541e
2:179448645 TTN A>G	2	179448645	179448645	A	G	TTN	c.65276-12T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448645A>G	(Likely) benign	1 lab	92167b2bf0
5:138147852 CTNNA1 G>T	5	138147852	138147852	G	T	CTNNA1	c.469-20G>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138147852G>T	(Likely) benign	1 lab	921d4602af
21:46440825 MISSING Ref too long to show for this DEL>C	21	46440825	48097372	Ref too long to show for this DEL	C	MISSING				NC_000021.8:g.46440826_48097372del	(Likely) pathogenic	1 lab	9220b6b669
9:107564325 ABCA1 G>C	9	107564325	107564325	G	C	ABCA1	c.4698+10C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564325G>C	(Likely) benign	1 lab	92226fc8c5
11:47353961 MYBPC3 T>C	11	47353961	47353961	T	C	MYBPC3	c.3628-152A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353961T>C	(Likely) benign	1 lab	9223a2bc96
7:152357883 XRCC2 A>G	7	152357883	152357883	A	G	XRCC2	c.40-16T>C	NM_005431.2	NP_005422.1:p.?	NC_000007.13:g.152357883A>G	(Likely) benign	1 lab	92249f59df
16:1004956 LMF1 A>G	16	1004956	1004956	A	G	LMF1	c.194-290T>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004956A>G	(Likely) benign	1 lab	922651aee1
15:75558465 GOLGA6C A>G	15	75558465	75558465	A	G	GOLGA6C	c.867A>G	NM_001164404.1	NP_001157876.1:p.(Ala289=)	NC_000015.9:g.75558465A>G	(Likely) benign	1 lab	922d5afa8b
5:180043407 FLT4 C>G	5	180043407	180043407	C	G	FLT4	c.3179G>C	NM_182925.5	NP_891555.2:p.(Arg1060Pro)	NC_000005.9:g.180043407C>G	VUS	1 lab	9230de4b71
2:44117020 LRPPRC C>A	2	44117020	44117020	C	A	LRPPRC	c.3986-5G>T	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44117020C>A	(Likely) benign	1 lab	9231202b5e
15:71839803 THSD4 G>A	15	71839803	71839803	G	A	THSD4	c.1153-113066G>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71839803G>A	(Likely) benign	1 lab	923261b4e9
5:127744488 FBN2 A>G	5	127744488	127744488	A	G	FBN2	c.957T>C	NM_001999.4	NP_001990.2:p.(Ile319=)	NC_000005.9:g.127744488A>G	(Likely) benign	1 lab	9232eb2302
19:49714449 TRPM4 G>T	19	49714449	49714449	G	T	TRPM4	c.3563G>T	NM_017636.4	NP_060106.2:p.(Trp1188Leu)	NC_000019.9:g.49714449G>T	VUS	1 lab	9233410c12
16:57007264 CETP G>A	16	57007264	57007264	G	A	CETP	c.772G>A	NM_000078.3	NP_000069.2:p.(Val258Ile)	NC_000016.9:g.57007264G>A	VUS	1 lab	9233ddeded
11:67938603 KMT5B G>A	11	67938603	67938603	G	A	KMT5B	c.340C>T	NM_001300907.1	NP_001287836.1:p.(Arg114Ter)	NC_000011.9:g.67938603G>A	VUS	1 lab	9233f76cec
16:89472567 MISSING A>Alt too long to show for this DUP	16	89472567	89785976	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.89472568_89785976dup	(Likely) pathogenic	1 lab	92369e7473
3:93747 MISSING A>Alt too long to show for this DUP	3	93747	488874	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.93748_488874dup	VUS	1 lab	923a2ee155
17:12642605 MYOCD G>GC	17	12642605	12642612	G	GC	MYOCD	c.684dup	NM_001146312.3	NP_001139784.1:p.(Ser229GlnfsTer17)	NC_000017.10:g.12642612dup	VUS	1 lab	923d1d36ca
19:17738335 UNC13A G>A	19	17738335	17738335	G	A	UNC13A	c.3903C>T	NM_001080421.3	NP_001073890.2:p.(Ser1301=)	NC_000019.9:g.17738335G>A	(Likely) benign	1 lab	9249d8d441
21:34003786 SYNJ1 C>T	21	34003786	34003786	C	T	SYNJ1	c.4358G>A	NM_003895.3	NP_003886.3:p.(Gly1453Glu)	NC_000021.8:g.34003786C>T	(Likely) benign	1 lab	924e096890
11:5247033 HBB C>G	11	5247033	5247033	C	G	HBB	c.316-77G>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247033C>G	(Likely) pathogenic	1 lab	924e9acce9
14:23895244 MYH7 A>G	14	23895244	23895244	A	G	MYH7	c.2091T>C	NM_000257.4	NP_000248.2:p.(Gly697=)	NC_000014.8:g.23895244A>G	(Likely) benign	1 lab	924f75bff6
1:55505537 PCSK9 C>T	1	55505537	55505537	C	T	PCSK9	c.27C>T	NM_174936.4	NP_777596.2:p.(Ser9=)	NC_000001.10:g.55505537C>T	(Likely) benign	1 lab	92509467a3
14:73659525 PSEN1 T>C	14	73659525	73659525	T	C	PSEN1	c.722T>C	NM_000021.4	NP_000012.1:p.(Leu241Pro)	NC_000014.8:g.73659525T>C	(Likely) pathogenic	1 lab	92518145fe
15:74487649 STRA6 C>T	15	74487649	74487649	C	T	STRA6	c.708G>A	NM_001199042.2	NP_001185971.1:p.(Val236=)	NC_000015.9:g.74487649C>T	VUS	1 lab	9251fc0360
7:107746313 LAMB4 T>C	7	107746313	107746313	T	C	LAMB4	c.819A>G	NM_007356.3	NP_031382.2:p.(Glu273=)	NC_000007.13:g.107746313T>C	(Likely) benign	1 lab	9253b477da
16:75669950 KARS1 G>A	16	75669950	75669950	G	A	KARS1	c.613C>T	NM_001130089.2	NP_001123561.1:p.(Arg205Cys)	NC_000016.9:g.75669950G>A	(Likely) pathogenic	1 lab	9254a1032a
2:198266476 SF3B1 ATTT>A	2	198266476	198266483	ATTT	A	SF3B1	c.2357_2359del	NM_012433.4	NP_036565.2:p.(Lys786del)	NC_000002.11:g.198266481_198266483del	VUS	1 lab	925540c392
6:112493979 LAMA4 C>T	6	112493979	112493979	C	T	LAMA4	c.1385G>A	NM_001105206.3	NP_001098676.2:p.(Arg462Gln)	NC_000006.11:g.112493979C>T	VUS	1 lab	9255e67234
16:57280054 ARL2BP G>C	16	57280054	57280054	G	C	ARL2BP	c.100+1G>C	NM_012106.4	NP_036238.1:p.?	NC_000016.9:g.57280054G>C	(Likely) pathogenic	1 lab	9256cc6fd2
7:142906377 MISSING Ref too long to show for this DEL>G	7	142906377	142969406	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.142906379_142969406del	VUS	1 lab	92599b6478
11:68115319 LRP5 G>A	11	68115319	68115319	G	A	LRP5	c.96G>A	NM_002335.4	NP_002326.2:p.(Ser32=)	NC_000011.9:g.68115319G>A	(Likely) benign	1 lab	925a4ccebf
10:90984870 LIPA T>C	10	90984870	90984870	T	C	LIPA	c.654A>G	NM_000235.4	NP_000226.2:p.(Arg218=)	NC_000010.10:g.90984870T>C	(Likely) benign	1 lab	925c4b5a80
5:908596 TRIP13 A>G	5	908596	908596	A	G	TRIP13	c.866+20A>G	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.908596A>G	(Likely) benign	1 lab	925f4e9c0e
17:41234440 BRCA1 T>A	17	41234440	41234440	T	A	BRCA1	c.4338A>T	NM_007294.4	NP_009225.1:p.(Glu1446Asp)	NC_000017.10:g.41234440T>A	(Likely) benign	1 lab	9262ca21c4
11:1018348 MUC6 G>A	11	1018348	1018348	G	A	MUC6	c.4453C>T	NM_005961.3	NP_005952.2:p.(Pro1485Ser)	NC_000011.9:g.1018348G>A	(Likely) benign	1 lab	926bc0b3a5
1:12071637 MFN2 G>A	1	12071637	12071637	G	A	MFN2	c.*15G>A	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12071637G>A	(Likely) benign	1 lab	926e27a070
9:107566948 ABCA1 C>A	9	107566948	107566948	C	A	ABCA1	c.4518G>T	NM_005502.4	NP_005493.2:p.(Ser1506=)	NC_000009.11:g.107566948C>A	(Likely) benign	1 lab	9273acd5de
12:49441791 KMT2D G>A	12	49441791	49441791	G	A	KMT2D	c.4193C>T	NM_003482.4	NP_003473.3:p.(Ser1398Leu)	NC_000012.11:g.49441791G>A	VUS	1 lab	92743cfdfe
2:21230732 APOB G>A	2	21230732	21230732	G	A	APOB	c.9008C>T	NM_000384.3	NP_000375.3:p.(Thr3003Ile)	NC_000002.11:g.21230732G>A	VUS	1 lab	9285ba644f
X:135080636 SLC9A6 G>T	X	135080636	135080636	G	T	SLC9A6	c.604-5G>T	NM_001042537.2	NP_001036002.1:p.?	NC_000023.10:g.135080636G>T	(Likely) benign	1 lab	9286214207
4:100515964 MTTP A>G	4	100515964	100515964	A	G	MTTP	c.833A>G	NM_000253.4	NP_000244.2:p.(Lys278Arg)	NC_000004.11:g.100515964A>G	VUS	1 lab	928658d110
13:26828867 CDK8 G>A	13	26828867	26828867	G	A	CDK8	c.89G>A	NM_001260.3	NP_001251.1:p.(Gly30Asp)	NC_000013.10:g.26828867G>A	(Likely) pathogenic	1 lab	9288e21661
13:51845201 MISSING T>Alt too long to show for this DUP	13	51845201	51971784	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.51845202_51971784dup	VUS	1 lab	928a5960be
2:113305150 POLR1B G>C	2	113305150	113305150	G	C	POLR1B	c.75+6G>C	NM_001282777.2	NP_001269706.1:p.?	NC_000002.11:g.113305150G>C	(Likely) benign	1 lab	928d33b110
16:84066962 SLC38A8 C>T	16	84066962	84066962	C	T	SLC38A8	c.501G>A	NM_001080442.3	NP_001073911.1:p.(Pro167=)	NC_000016.9:g.84066962C>T	(Likely) benign	1 lab	928dceacad
20:4680416 PRNP A>G	20	4680416	4680416	A	G	PRNP	c.550A>G	NM_000311.5	NP_000302.1:p.(Ile184Val)	NC_000020.10:g.4680416A>G	(Likely) benign	1 lab	928eeed9da
15:73026664 MISSING Ref too long to show for this DEL>C	15	73026664	73098369	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.73026665_73098369del	VUS	1 lab	929199896f
19:10940995 DNM2 G>A	19	10940995	10940995	G	A	DNM2	c.2484G>A	NM_001005360.3	NP_001005360.1:p.(Pro828=)	NC_000019.9:g.10940995G>A	(Likely) benign	1 lab	929250a712
4:47973131 CNGA1 A>T	4	47973131	47973131	A	T	CNGA1	c.-219-14T>A	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47973131A>T	(Likely) benign	1 lab	9297432d81
3:49701203 BSN T>C	3	49701203	49701203	T	C	BSN	c.11509-17T>C	NM_003458.4	NP_003449.2:p.?	NC_000003.11:g.49701203T>C	(Likely) benign	1 lab	92995993e6
21:47545962 COL6A2 C>T	21	47545962	47545962	C	T	COL6A2	c.2233C>T	NM_058175.3	NP_478055.2:p.(Arg745Trp)	NC_000021.8:g.47545962C>T	VUS	1 lab	92996a908d
6:56470098 DST T>G	6	56470098	56470098	T	G	DST	c.9328A>C	NM_001374736.1	NP_001361665.1:p.(Lys3110Gln)	NC_000006.11:g.56470098T>G	(Likely) benign	1 lab	929ba26bf6
18:6942067 LAMA1 C>T	18	6942067	6942067	C	T	LAMA1	c.*11G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6942067C>T	(Likely) benign	1 lab	929ba8050a
2:25044374 ADCY3 G>A	2	25044374	25044374	G	A	ADCY3	c.3130+12C>T	NM_001320613.2	NP_001307542.1:p.?	NC_000002.11:g.25044374G>A	(Likely) benign	1 lab	929d808dfe
2:25384092 POMC T>C	2	25384092	25384092	T	C	POMC	c.662A>G	NM_001035256.3	NP_001030333.1:p.(Tyr221Cys)	NC_000002.11:g.25384092T>C	VUS	1 lab	92a1f63caf
14:23874526 MYH6 G>A	14	23874526	23874526	G	A	MYH6	c.408C>T	NM_002471.4	NP_002462.2:p.(Ala136=)	NC_000014.8:g.23874526G>A	(Likely) benign	1 lab	92a4262614
10:73537673 CDH23 G>A	10	73537673	73537673	G	A	CDH23	c.5067+15G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73537673G>A	(Likely) benign	1 lab	92a49f1e73
19:17086045 CPAMD8 A>G	19	17086045	17086045	A	G	CPAMD8	c.1932T>C	NM_015692.5	NP_056507.3:p.(Tyr644=)	NC_000019.9:g.17086045A>G	(Likely) benign	1 lab	92a4abceb7
22:50893668 SBF1 C>G	22	50893668	50893668	C	G	SBF1	c.4539G>C	NM_002972.4	NP_002963.2:p.(Leu1513=)	NC_000022.10:g.50893668C>G	(Likely) benign	1 lab	92a555edfb
X:106841845 MISSING G>Alt too long to show for this DUP	X	106841845	106876174	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.106841847_106876174dup	VUS	1 lab	92a6393752
19:45409928 APOE T>A	19	45409928	45409928	T	A	APOE	c.121+4T>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409928T>A	(Likely) benign	1 lab	92aac92d75
19:45412180 APOE G>A	19	45412180	45412180	G	A	APOE	c.705G>A	NM_001302688.2	NP_001289617.1:p.(Arg235=)	NC_000019.9:g.45412180G>A	(Likely) benign	1 lab	92ac3178a1
17:48277749 COL1A1 C>A	17	48277749	48277749	C	A	COL1A1	c.104-441G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48277749C>A	(Likely) benign	1 lab	92b3f777e3
X:153586805 FLNA C>G	X	153586805	153586805	C	G	FLNA	c.4598+8G>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153586805C>G	(Likely) benign	1 lab	92b7fb1c39
9:107581124 ABCA1 C>T	9	107581124	107581124	C	T	ABCA1	c.3282G>A	NM_005502.4	NP_005493.2:p.(Ala1094=)	NC_000009.11:g.107581124C>T	(Likely) benign	1 lab	92b914ed75
8:59404081 CYP7A1 G>T	8	59404081	59404081	G	T	CYP7A1	c.1468C>A	NM_000780.4	NP_000771.2:p.(Pro490Thr)	NC_000008.10:g.59404081G>T	VUS	1 lab	92ba02c2dd
3:123385245 MYLK T>C	3	123385245	123385245	T	C	MYLK	c.3704-52A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123385245T>C	(Likely) benign	1 lab	92ba7e4e58
12:33049532 PKP2 C>T	12	33049532	33049532	C	T	PKP2	c.134G>A	NM_004572.4	NP_004563.2:p.(Gly45Asp)	NC_000012.11:g.33049532C>T	(Likely) benign	1 lab	92bf6e85dd
11:77813997 ALG8 CAAAA>C	11	77813997	77814015	CAAAA	C	ALG8	c.1350-7_1350-4del	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77814012_77814015del	(Likely) benign	1 lab	92bfc6b439
6:73102522 RIMS1 A>AT	6	73102522	73102532	A	AT	RIMS1	c.4618+20dup	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.73102532dup	(Likely) benign	1 lab	92c17b0028
1:40770733 COL9A2 C>CT	1	40770733	40770757	C	CT	COL9A2	c.1108-215dup	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40770757dup	(Likely) benign	1 lab	92c6f66f6f
19:50812994 MYH14 G>A	19	50812994	50812994	G	A	MYH14	c.6058G>A	NM_001145809.2	NP_001139281.1:p.(Gly2020Arg)	NC_000019.9:g.50812994G>A	VUS	1 lab	92c848d90f
14:81610506 TSHR C>G	14	81610506	81610506	C	G	TSHR	c.2104C>G	NM_000369.5	NP_000360.2:p.(Gln702Glu)	NC_000014.8:g.81610506C>G	VUS	1 lab	92c9c43dac
19:5720126 LONP1 G>A	19	5720126	5720126	G	A	LONP1	c.18C>T	NM_004793.4	NP_004784.2:p.(Gly6=)	NC_000019.9:g.5720126G>A	(Likely) benign	1 lab	92ced23308
9:2096758 SMARCA2 TAAG>T	9	2096758	2096764	TAAG	T	SMARCA2	c.2989_2991del	NM_003070.5	NP_003061.3:p.(Lys997del)	NC_000009.11:g.2096762_2096764del	(Likely) pathogenic	1 lab	92cf68fba8
2:220501055 SLC4A3 C>T	2	220501055	220501055	C	T	SLC4A3	c.2304C>T	NM_001326559.2	NP_001313488.2:p.(Ser768=)	NC_000002.11:g.220501055C>T	(Likely) benign	1 lab	92d01b27f5
12:69084526 NUP107 G>A	12	69084526	69084526	G	A	NUP107	c.303G>A	NM_020401.4	NP_065134.1:p.(Met101Ile)	NC_000012.11:g.69084526G>A	(Likely) pathogenic	1 lab	92d376600d
14:37777650 MIPOL1 Ref too long to show for this DEL>A	14	37777650	37984309	Ref too long to show for this DEL	A	MIPOL1	c.756_1262+14966del	NM_001388067.1	NP_001374996.1:p.?	NC_000014.8:g.37777652_37984309del	VUS	1 lab	92d393efa8
19:11221368 LDLR C>A	19	11221368	11221368	C	A	LDLR	c.981C>A	NM_000527.5	NP_000518.1:p.(His327Gln)	NC_000019.9:g.11221368C>A	(Likely) pathogenic	1 lab	92d5bca1d3
7:47409923 MISSING T>Alt too long to show for this DUP	7	47409923	47704843	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.47409925_47704843dup	VUS	1 lab	92d65ba8c0
11:8115663 TUB G>A	11	8115663	8115663	G	A	TUB	c.489G>A	NM_003320.5	NP_003311.2:p.(Lys163=)	NC_000011.9:g.8115663G>A	(Likely) benign	1 lab	92d97cf58a
11:47356333 MYBPC3 C>T	11	47356333	47356333	C	T	MYBPC3	c.2905+260G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356333C>T	(Likely) benign	1 lab	92ddbbb15d
19:18279997 PIK3R2 C>T	19	18279997	18279997	C	T	PIK3R2	c.2080C>T	NM_005027.4	NP_005018.2:p.(Leu694=)	NC_000019.9:g.18279997C>T	(Likely) benign	1 lab	92e1169915
8:134251214 NDRG1 C>T	8	134251214	134251214	C	T	NDRG1	c.1092G>A	NM_001135242.2	NP_001128714.1:p.(Ser364=)	NC_000008.10:g.134251214C>T	(Likely) benign	1 lab	92e38fae40
8:55540402 RP1 C>T	8	55540402	55540402	C	T	RP1	c.3960C>T	NM_006269.2	NP_006260.1:p.(Asn1320=)	NC_000008.10:g.55540402C>T	(Likely) benign	1 lab	92e3fec308
14:89307366 TTC8 T>A	14	89307366	89307366	T	A	TTC8	c.300-15T>A	NM_001288781.1	NP_001275710.1:p.?	NC_000014.8:g.89307366T>A	(Likely) benign	1 lab	92e4d0d12d
4:170510679 NEK1 G>GA	4	170510679	170510690	G	GA	NEK1	c.397-15dup	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170510690dup	(Likely) benign	1 lab	92e6fd983c
16:67974204 LCAT A>G	16	67974204	67974204	A	G	LCAT	c.926T>C	NM_000229.2	NP_000220.1:p.(Leu309Pro)	NC_000016.9:g.67974204A>G	VUS	1 lab	92e7c87105
14:75489787 MLH3 C>A	14	75489787	75489787	C	A	MLH3	c.3988-66G>T	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75489787C>A	(Likely) benign	1 lab	92e8565b35
16:56995908 CETP T>A	16	56995908	56995908	T	A	CETP	c.17T>A	NM_000078.3	NP_000069.2:p.(Val6Asp)	NC_000016.9:g.56995908T>A	VUS	1 lab	92ea440df0
10:90974762 LIPA G>A	10	90974762	90974762	G	A	LIPA	c.1023C>T	NM_000235.4	NP_000226.2:p.(Ser341=)	NC_000010.10:g.90974762G>A	(Likely) benign	1 lab	92ec2f4e9c
12:13764767 GRIN2B C>T	12	13764767	13764767	C	T	GRIN2B	c.1672G>A	NM_000834.5	NP_000825.2:p.(Val558Ile)	NC_000012.11:g.13764767C>T	(Likely) pathogenic	1 lab	92ecd0b3e9
2:169820801 ABCB11 C>T	2	169820801	169820801	C	T	ABCB11	c.2093G>A	NM_003742.4	NP_003733.2:p.(Arg698His)	NC_000002.11:g.169820801C>T	(Likely) benign	1 lab	92ece1c916
19:7594069 MCOLN1 CCTT>C	19	7594069	7594076	CCTT	C	MCOLN1	c.1222_1224del	NM_020533.3	NP_065394.1:p.(Phe408del)	NC_000019.9:g.7594074_7594076del	(Likely) pathogenic	1 lab	92ed65b62b
2:44078751 ABCG8 G>A	2	44078751	44078751	G	A	ABCG8	c.351G>A	NM_022437.3	NP_071882.1:p.(Val117=)	NC_000002.11:g.44078751G>A	(Likely) benign	1 lab	92eee8750e
20:12756724 MISSING Ref too long to show for this DEL>C	20	12756724	13329963	Ref too long to show for this DEL	C	MISSING				NC_000020.10:g.12756725_13329963del	VUS	1 lab	92ef4b12e5
5:172412550 ATP6V0E1 Ref too long to show for this DEL>T	5	172412550	172437307	Ref too long to show for this DEL	T	ATP6V0E1	c.104+1584_153-9934del	NM_003945.4	NP_003936.1:p.?	NC_000005.9:g.172412551_172437307del	VUS	1 lab	92ef765968
5:158613724 MISSING T>Alt too long to show for this DUP	5	158613724	159287778	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.158613725_159287778dup	VUS	1 lab	92efa220b5
X:31515064 DMD G>C	X	31515064	31515064	G	C	DMD	c.8391-3C>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31515064G>C	VUS	1 lab	92f4b9a398
4:1231978 CTBP1 T>C	4	1231978	1231978	T	C	CTBP1	c.155A>G	NM_001012614.2	NP_001012632.1:p.(His52Arg)	NC_000004.11:g.1231978T>C	VUS	1 lab	92f6f32bae
19:11230898 LDLR C>A	19	11230898	11230898	C	A	LDLR	c.1976C>A	NM_000527.5	NP_000518.1:p.(Thr659Asn)	NC_000019.9:g.11230898C>A	VUS	1 lab	92f9014203
2:39224037 SOS1 C>T	2	39224037	39224037	C	T	SOS1	c.3081+26G>A	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39224037C>T	(Likely) benign	1 lab	92fb0f7cb7
22:50294727 ALG12 Ref too long to show for this DEL>T	22	50294727	50294988	Ref too long to show for this DEL	T	ALG12	c.*2498_*2758del	NM_024105.4	NP_077010.1:p.?	NC_000022.10:g.50294728_50294988del	VUS	1 lab	92fe7f83bb
14:23859437 MYH6 G>A	14	23859437	23859437	G	A	MYH6	c.3561C>T	NM_002471.4	NP_002462.2:p.(His1187=)	NC_000014.8:g.23859437G>A	(Likely) benign	1 lab	93011aa150
16:86602073 FOXC2 C>T	16	86602073	86602073	C	T	FOXC2	c.1132C>T	NM_005251.3	NP_005242.1:p.(Gln378Ter)	NC_000016.9:g.86602073C>T	(Likely) pathogenic	1 lab	93015e0178
18:34156497 FHOD3 A>G	18	34156497	34156497	A	G	FHOD3	c.595A>G	NM_001281740.3	NP_001268669.1:p.(Ile199Val)	NC_000018.9:g.34156497A>G	(Likely) benign	1 lab	93078a4bb4
9:34514465 DNAI1 G>A	9	34514465	34514465	G	A	DNAI1	c.1643G>A	NM_012144.4	NP_036276.1:p.(Trp548Ter)	NC_000009.11:g.34514465G>A	(Likely) pathogenic	1 lab	9307bc8a8d
16:88504820 ZNF469 AAGG>A	16	88504820	88504826	AAGG	A	ZNF469	c.10946_10948del	NM_001367624.2	NP_001354553.1:p.(Glu3649del)	NC_000016.9:g.88504824_88504826del	(Likely) benign	1 lab	93087b3c3d
10:122625525 WDR11 A>T	10	122625525	122625525	A	T	WDR11	c.994+269A>T	NM_018117.12	NP_060587.8:p.?	NC_000010.10:g.122625525A>T	VUS	1 lab	930933ff20
7:135242281 MISSING Ref too long to show for this DEL>A	7	135242281	135371950	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.135242282_135371950del	VUS	1 lab	930a19e52e
2:179482527 TTN C>T	2	179482527	179482527	C	T	TTN	c.47551G>A	NM_001267550.2	NP_001254479.2:p.(Val15851Ile)	NC_000002.11:g.179482527C>T	VUS	1 lab	930fe30d9f
X:106885634 PRPS1 G>A	X	106885634	106885634	G	A	PRPS1	c.444G>A	NM_002764.4	NP_002755.1:p.(Glu148=)	NC_000023.10:g.106885634G>A	(Likely) benign	1 lab	93110a9395
18:53024845 TCF4 Ref too long to show for this DEL>A	18	53024845	53091306	Ref too long to show for this DEL	A	TCF4	c.305-20555_370-6612del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53024848_53091306del	(Likely) pathogenic	1 lab	93190f98cf
9:21161302 MISSING Ref too long to show for this DEL>A	9	21161302	21210744	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.21161303_21210744del	VUS	1 lab	93197a811d
9:107620808 ABCA1 T>C	9	107620808	107620808	T	C	ABCA1	c.715A>G	NM_005502.4	NP_005493.2:p.(Ile239Val)	NC_000009.11:g.107620808T>C	(Likely) benign	1 lab	931a121ae9
2:25048947 ADCY3 G>A	2	25048947	25048947	G	A	ADCY3	c.2610C>T	NM_001377128.1	NP_001364057.1:p.(Leu870=)	NC_000002.11:g.25048947G>A	(Likely) benign	1 lab	931ad20899
2:21265141 APOB C>A	2	21265141	21265141	C	A	APOB	c.237+92G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265141C>A	(Likely) benign	1 lab	931af0814a
6:112460361 LAMA4 T>C	6	112460361	112460361	T	C	LAMA4	c.3222A>G	NM_002290.5	NP_002281.3:p.(Thr1074=)	NC_000006.11:g.112460361T>C	(Likely) benign	1 lab	93253cdf14
17:45229200 CDC27 G>T	17	45229200	45229200	G	T	CDC27	c.1060C>A	NM_001114091.4	NP_001107563.1:p.(Gln354Lys)	NC_000017.10:g.45229200G>T	(Likely) benign	1 lab	9329ff4f95
1:156106078 LMNA G>T	1	156106078	156106078	G	T	LMNA	c.1231G>T	NM_170707.4	NP_733821.1:p.(Gly411Cys)	NC_000001.10:g.156106078G>T	VUS	1 lab	932bb81e27
2:179486352 TTN C>T	2	179486352	179486352	C	T	TTN	c.45199G>A	NM_001267550.2	NP_001254479.2:p.(Asp15067Asn)	NC_000002.11:g.179486352C>T	VUS	1 lab	93317feba4
16:28883289 SH2B1 C>T	16	28883289	28883289	C	T	SH2B1	c.1498C>T	NM_015503.3	NP_056318.2:p.(Pro500Ser)	NC_000016.9:g.28883289C>T	VUS	1 lab	93350ba469
11:47361163 MYBPC3 A>G	11	47361163	47361163	A	G	MYBPC3	c.2067+39T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361163A>G	(Likely) benign	1 lab	93360b178d
19:11216247 LDLR G>T	19	11216247	11216247	G	T	LDLR	c.665G>T	NM_000527.5	NP_000518.1:p.(Cys222Phe)	NC_000019.9:g.11216247G>T	(Likely) pathogenic	1 lab	9338cff46f
16:88803124 PIEZO1 T>C	16	88803124	88803124	T	C	PIEZO1	c.1219A>G	NM_001142864.4	NP_001136336.2:p.(Arg407Gly)	NC_000016.9:g.88803124T>C	(Likely) benign	1 lab	9339220aaa
11:121414320 SORL1 G>A	11	121414320	121414320	G	A	SORL1	c.1749G>A	NM_003105.6	NP_003096.2:p.(Val583=)	NC_000011.9:g.121414320G>A	(Likely) benign	1 lab	9339ebd7f7
15:101436940 MISSING G>Alt too long to show for this DUP	15	101436940	101487755	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.101436942_101487755dup	VUS	1 lab	933a765e9e
16:904627 LMF1 G>A	16	904627	904627	G	A	LMF1	c.1210C>T	NM_001352018.2	NP_001338947.1:p.(Arg404Trp)	NC_000016.9:g.904627G>A	VUS	1 lab	933fe06f64
22:50885769 SBF1 G>A	22	50885769	50885769	G	A	SBF1	c.5565C>T	NM_002972.4	NP_002963.2:p.(Asp1855=)	NC_000022.10:g.50885769G>A	(Likely) benign	1 lab	93422fd987
2:179612420 TTN T>C	2	179612420	179612420	T	C	TTN	c.14707A>G	NM_133379.5	NP_596870.2:p.(Thr4903Ala)	NC_000002.11:g.179612420T>C	VUS	1 lab	93464338ed
16:88498324 ZNF469 C>T	16	88498324	88498324	C	T	ZNF469	c.4446C>T	NM_001367624.2	NP_001354553.1:p.(Phe1482=)	NC_000016.9:g.88498324C>T	(Likely) benign	1 lab	9347ce2bb6
1:5940174 NPHP4 G>A	1	5940174	5940174	G	A	NPHP4	c.2611C>T	NM_015102.5	NP_055917.1:p.(Arg871Ter)	NC_000001.10:g.5940174G>A	(Likely) pathogenic	1 lab	9349b4c929
X:77266991 ATP7A A>G	X	77266991	77266991	A	G	ATP7A	c.1992A>G	NM_000052.7	NP_000043.4:p.(Val664=)	NC_000023.10:g.77266991A>G	(Likely) benign	1 lab	934ae754b7
6:56458880 DST T>C	6	56458880	56458880	T	C	DST	c.12307A>G	NM_001374736.1	NP_001361665.1:p.(Lys4103Glu)	NC_000006.11:g.56458880T>C	VUS	1 lab	934d779376
6:15638035 DTNBP1 C>T	6	15638035	15638035	C	T	DTNBP1	c.162G>A	NM_183040.2	NP_898861.1:p.(Arg54=)	NC_000006.11:g.15638035C>T	(Likely) benign	1 lab	9350d17ab4
20:45353449 SLC2A10 T>A	20	45353449	45353449	T	A	SLC2A10	c.5-231T>A	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45353449T>A	(Likely) benign	1 lab	935104adbb
17:38802118 SMARCE1 G>GA	17	38802118	38802128	G	GA	SMARCE1	c.-45-20dup	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38802128dup	VUS	1 lab	93529bdbea
11:108128219 ATM A>G	11	108128219	108128219	A	G	ATM	c.2262A>G	NM_000051.4	NP_000042.3:p.(Gln754=)	NC_000011.9:g.108128219A>G	VUS	1 lab	9354ea7558
9:107594088 ABCA1 T>C	9	107594088	107594088	T	C	ABCA1	c.1530A>G	NM_005502.4	NP_005493.2:p.(Leu510=)	NC_000009.11:g.107594088T>C	(Likely) benign	1 lab	9356fefb9c
11:108190790 ATM T>A	11	108190790	108190790	T	A	ATM	c.6452+5T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108190790T>A	VUS	1 lab	935875a457
17:18445504 CCDC144BP G>GA	17	18445504	18445514	G	GA	CCDC144BP	n.4310-4dup	NR_036647.1		NC_000017.10:g.18445514dup	(Likely) benign	1 lab	935f827914
2:63631390 WDPCP G>A	2	63631390	63631390	G	A	WDPCP	c.1228C>T	NM_015910.7	NP_056994.3:p.(Pro410Ser)	NC_000002.11:g.63631390G>A	VUS	1 lab	93608a10c5
20:30060586 MISSING G>Alt too long to show for this DUP	20	30060586	30272637	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.30060588_30272637dup	VUS	1 lab	9362774180
X:9659766 TBL1X G>A	X	9659766	9659766	G	A	TBL1X	c.749+15G>A	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9659766G>A	(Likely) benign	1 lab	9364f7c58e
5:149497285 PDGFRB G>A	5	149497285	149497285	G	A	PDGFRB	c.3033C>T	NM_002609.4	NP_002600.1:p.(Ala1011=)	NC_000005.9:g.149497285G>A	(Likely) benign	1 lab	9366bd8d74
2:179443419 TTN G>A	2	179443419	179443419	G	A	TTN	c.68248C>T	NM_001267550.2	NP_001254479.2:p.(Pro22750Ser)	NC_000002.11:g.179443419G>A	VUS	1 lab	936a072cde
16:4540463 MISSING Ref too long to show for this DEL>T	16	4540463	5464454	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.4540464_5464454del	(Likely) pathogenic	1 lab	936a4dd995
2:21229338 APOB T>C	2	21229338	21229338	T	C	APOB	c.10402A>G	NM_000384.3	NP_000375.3:p.(Met3468Val)	NC_000002.11:g.21229338T>C	VUS	1 lab	936b51d924
8:100887752 VPS13B T>C	8	100887752	100887752	T	C	VPS13B	c.11927T>C	NM_017890.5	NP_060360.3:p.(Ile3976Thr)	NC_000008.10:g.100887752T>C	(Likely) benign	1 lab	93702f9f82
1:25883760 LDLRAP1 T>A	1	25883760	25883760	T	A	LDLRAP1	c.459+2T>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883760T>A	(Likely) pathogenic	1 lab	93744092f1
2:44065758 ABCG5 A>C	2	44065758	44065758	A	C	ABCG5	c.61T>G	NM_022436.3	NP_071881.1:p.(Ser21Ala)	NC_000002.11:g.44065758A>C	VUS	1 lab	9376cac801
10:112570155 RBM20 C>T	10	112570155	112570155	C	T	RBM20	c.1815C>T	NM_001134363.3	NP_001127835.2:p.(Ala605=)	NC_000010.10:g.112570155C>T	(Likely) benign	1 lab	937c7d7d9a
18:45391470 SMAD2 T>A	18	45391470	45391470	T	A	SMAD2	c.690A>T	NM_001003652.4	NP_001003652.1:p.(Gly230=)	NC_000018.9:g.45391470T>A	(Likely) benign	1 lab	9380236a38
16:921339 LMF1 G>A	16	921339	921339	G	A	LMF1	c.501C>T	NM_001352018.2	NP_001338947.1:p.(Ala167=)	NC_000016.9:g.921339G>A	(Likely) benign	1 lab	93819c32b7
2:49195844 FSHR G>A	2	49195844	49195844	G	A	FSHR	c.847C>T	NM_000145.4	NP_000136.2:p.(Arg283Trp)	NC_000002.11:g.49195844G>A	(Likely) pathogenic	1 lab	9386e3e45b
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATA	(Likely) benign	1 lab	938b828007
4:100544025 MTTP A>C	4	100544025	100544025	A	C	MTTP	c.*20A>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100544025A>C	(Likely) benign	1 lab	939264b780
X:9665481 TBL1X G>T	X	9665481	9665481	G	T	TBL1X	c.1114+12G>T	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9665481G>T	(Likely) benign	1 lab	93933bc296
1:156496307 IQGAP3 G>Alt too long to show for this DUP	1	156496307	156510439	G	Alt too long to show for this DUP	IQGAP3	c.2739+61_4866dup	NM_178229.5	NP_839943.3:p.?	NC_000001.10:g.156496308_156510439dup	VUS	1 lab	9393fc78d3
2:21263639 APOB T>G	2	21263639	21263639	T	G	APOB	c.383+171A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21263639T>G	(Likely) benign	1 lab	9395e84342
5:121409893 LOX G>A	5	121409893	121409893	G	A	LOX	c.879-29C>T	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121409893G>A	(Likely) benign	1 lab	9396c26190
8:19816942 LPL T>C	8	19816942	19816942	T	C	LPL	c.1139+51T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816942T>C	(Likely) benign	1 lab	9398dec951
14:21793398 RPGRIP1 T>C	14	21793398	21793398	T	C	RPGRIP1	c.2223T>C	NM_020366.4	NP_065099.3:p.(Gly741=)	NC_000014.8:g.21793398T>C	(Likely) benign	1 lab	9399de937e
1:55505668 PCSK9 C>G	1	55505668	55505668	C	G	PCSK9	c.158C>G	NM_174936.4	NP_777596.2:p.(Ala53Gly)	NC_000001.10:g.55505668C>G	(Likely) benign	1 lab	939a73d798
2:29606646 ALK G>A	2	29606646	29606646	G	A	ALK	c.1234C>T	NM_004304.5	NP_004295.2:p.(Arg412Cys)	NC_000002.11:g.29606646G>A	VUS	1 lab	939f25b9bc
12:21358817 SLCO1B1 A>T	12	21358817	21358817	A	T	SLCO1B1	c.1347A>T	NM_006446.5	NP_006437.3:p.(Thr449=)	NC_000012.11:g.21358817A>T	(Likely) benign	1 lab	93a2c19dde
2:179606360 TTN T>C	2	179606360	179606360	T	C	TTN	c.11600A>G	NM_001267550.2	NP_001254479.2:p.(Lys3867Arg)	NC_000002.11:g.179606360T>C	VUS	1 lab	93a5c8bb90
7:74245171 MISSING Ref too long to show for this DEL>A	7	74245171	74302730	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.74245173_74302730del	VUS	1 lab	93a640da96
13:48807588 ITM2B C>G	13	48807588	48807588	C	G	ITM2B	c.92C>G	NM_021999.5	NP_068839.1:p.(Pro31Arg)	NC_000013.10:g.48807588C>G	(Likely) benign	1 lab	93a8f58bad
6:7558504 DSP T>C	6	7558504	7558504	T	C	DSP	c.422+7T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558504T>C	(Likely) benign	1 lab	93aa5b561b
7:100274422 GNB2 G>GGT	7	100274422	100274435	G	GGT	GNB2	c.203+12_203+13dup	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100274434_100274435dup	(Likely) benign	1 lab	93ad51bfd0
11:47369408 MYBPC3 G>T	11	47369408	47369408	G	T	MYBPC3	c.821C>A	NM_000256.3	NP_000247.2:p.(Thr274Lys)	NC_000011.9:g.47369408G>T	VUS	1 lab	93b0bbde47
2:21238368 APOB G>A	2	21238368	21238368	G	A	APOB	c.3382C>T	NM_000384.3	NP_000375.3:p.(Arg1128Cys)	NC_000002.11:g.21238368G>A	VUS	1 lab	93b53428c4
2:44073881 ABCG8 T>C	2	44073881	44073881	T	C	ABCG8	c.322+431T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073881T>C	(Likely) benign	1 lab	93ba41b359
2:21225491 APOB A>G	2	21225491	21225491	A	G	APOB	c.12803T>C	NM_000384.3	NP_000375.3:p.(Met4268Thr)	NC_000002.11:g.21225491A>G	(Likely) benign	1 lab	93bc02d408
2:69300243 ANTXR1 G>A	2	69300243	69300243	G	A	ANTXR1	c.492+10G>A	NM_032208.3	NP_115584.1:p.?	NC_000002.11:g.69300243G>A	(Likely) benign	1 lab	93bd9978b4
2:179315031 PRKRA T>C	2	179315031	179315031	T	C	PRKRA	c.140A>G	NM_001139517.1	NP_001132989.1:p.(Asp47Gly)	NC_000002.11:g.179315031T>C	(Likely) benign	1 lab	93cc98bd28
17:10538863 MYH3 C>T	17	10538863	10538863	C	T	MYH3	c.3993G>A	NM_002470.4	NP_002461.2:p.(Ala1331=)	NC_000017.10:g.10538863C>T	(Likely) benign	1 lab	93c109e26d
12:69912147 FRS2 Ref too long to show for this DEL>G	12	69912147	69951428	Ref too long to show for this DEL	G	FRS2	c.-260-12496_-121-4532del	NM_001278356.2	NP_001265285.1:p.?	NC_000012.11:g.69912149_69951428del	VUS	1 lab	93c9b88f18
11:8118365 TUB A>G	11	8118365	8118365	A	G	TUB	c.852+12A>G	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8118365A>G	(Likely) benign	1 lab	93ca25e494
18:19321658 MIB1 C>T	18	19321658	19321658	C	T	MIB1	c.114C>T	NM_020774.4	NP_065825.1:p.(Thr38=)	NC_000018.9:g.19321658C>T	(Likely) benign	1 lab	93cafc4748
1:866319 SAMD11 G>A	1	866319	866319	G	A	SAMD11	c.255-100G>A	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.866319G>A	(Likely) benign	1 lab	93cc298b21
4:100504664 MTTP T>C	4	100504664	100504664	T	C	MTTP	c.383T>C	NM_000253.4	NP_000244.2:p.(Ile128Thr)	NC_000004.11:g.100504664T>C	(Likely) benign	1 lab	93cc71429d
12:122252245 SETD1B G>A	12	122252245	122252245	G	A	SETD1B	c.2124G>A	NM_001353345.2	NP_001340274.1:p.(Pro708=)	NC_000012.11:g.122252245G>A	(Likely) benign	1 lab	93d8190238
1:211832061 NEK2 CA>C	1	211832061	211832090	CA	C	NEK2	c.1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832090del	(Likely) benign	1 lab	93d87e6762
2:112686866 MERTK C>T	2	112686866	112686866	C	T	MERTK	c.231C>T	NM_006343.3	NP_006334.2:p.(Asn77=)	NC_000002.11:g.112686866C>T	(Likely) benign	1 lab	93d91bf8e4
8:134260174 NDRG1 G>A	8	134260174	134260174	G	A	NDRG1	c.756-5C>T	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134260174G>A	(Likely) benign	1 lab	93d953343d
12:21377736 SLCO1B1 C>T	12	21377736	21377736	C	T	SLCO1B1	c.1828C>T	NM_006446.5	NP_006437.3:p.(Arg610Cys)	NC_000012.11:g.21377736C>T	(Likely) benign	1 lab	93da62c1c9
15:60649248 MISSING Ref too long to show for this DEL>A	15	60649248	60695882	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.60649249_60695882del	VUS	1 lab	93dd805077
19:11095067 SMARCA4 C>T	19	11095067	11095067	C	T	SMARCA4	c.222+18C>T	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11095067C>T	(Likely) benign	1 lab	93dda8c50e
12:21329424 SLCO1B1 T>C	12	21329424	21329424	T	C	SLCO1B1	c.360-286T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329424T>C	(Likely) benign	1 lab	93e08e2fbe
18:44549607 KATNAL2 C>T	18	44549607	44549607	C	T	KATNAL2	c.51+22721C>T	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44549607C>T	(Likely) benign	1 lab	93e15fa2a0
1:12030858 PLOD1 C>T	1	12030858	12030858	C	T	PLOD1	c.1887C>T	NM_000302.4	NP_000293.2:p.(Pro629=)	NC_000001.10:g.12030858C>T	(Likely) benign	1 lab	93e1863607
12:124887058 NCOR2 G>GGCTGCT	12	124887058	124887095	G	GGCTGCT	NCOR2	c.1523_1528dup	NM_001206654.2	NP_001193583.1:p.(Gln508_Gln509dup)	NC_000012.11:g.124887090_124887095dup	(Likely) benign	1 lab	93e3dac8e2
12:2706392 CACNA1C GCAGA>G	12	2706392	2706396	GCAGA	G	CACNA1C	c.2794-3_2794del	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2706393_2706396del	(Likely) benign	1 lab	93e5126e64
11:9817426 SBF2 G>A	11	9817426	9817426	G	A	SBF2	c.4522C>T	NM_030962.4	NP_112224.1:p.(Arg1508Cys)	NC_000011.9:g.9817426G>A	VUS	1 lab	93ee4b5c8c
4:128814957 PLK4 C>T	4	128814957	128814957	C	T	PLK4	c.2483C>T	NM_014264.5	NP_055079.3:p.(Thr828Met)	NC_000004.11:g.128814957C>T	(Likely) benign	1 lab	93ef609d9c
1:45479292 UROD A>G	1	45479292	45479292	A	G	UROD	c.303A>G	NM_000374.5	NP_000365.3:p.(Val101=)	NC_000001.10:g.45479292A>G	(Likely) benign	1 lab	93ef7e9435
19:11231059 LDLR T>G	19	11231059	11231059	T	G	LDLR	c.2001T>G	NM_000527.5	NP_000518.1:p.(Cys667Trp)	NC_000019.9:g.11231059T>G	(Likely) pathogenic	1 lab	93f081ccb6
1:103353960 COL11A1 T>C	1	103353960	103353960	T	C	COL11A1	c.4608+173A>G	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103353960T>C	(Likely) benign	1 lab	93f3ff2a64
8:22049669 BMP1 C>T	8	22049669	22049669	C	T	BMP1	c.1180+5C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22049669C>T	(Likely) benign	1 lab	93f9bacd77
2:220499223 SLC4A3 T>C	2	220499223	220499223	T	C	SLC4A3	c.1724T>C	NM_201574.3	NP_963868.3:p.(Val575Ala)	NC_000002.11:g.220499223T>C	VUS	1 lab	93fc245e48
13:32907240 BRCA2 T>C	13	32907240	32907240	T	C	BRCA2	c.1625T>C	NM_000059.4	NP_000050.3:p.(Ile542Thr)	NC_000013.10:g.32907240T>C	(Likely) benign	1 lab	93fc9d034f
12:21327602 SLCO1B1 T>G	12	21327602	21327602	T	G	SLCO1B1	c.318T>G	NM_006446.5	NP_006437.3:p.(Ile106Met)	NC_000012.11:g.21327602T>G	(Likely) benign	1 lab	93fd9d593e
10:73337678 CDH23 C>T	10	73337678	73337678	C	T	CDH23	c.761C>T	NM_022124.6	NP_071407.4:p.(Thr254Met)	NC_000010.10:g.73337678C>T	VUS	1 lab	93feb4e1fd
15:40698116 IVD C>T	15	40698116	40698116	C	T	IVD	c.88C>T	NM_002225.5	NP_002216.3:p.(His30Tyr)	NC_000015.9:g.40698116C>T	(Likely) benign	1 lab	93ff859bfc
1:116932921 ATP1A1 G>A	1	116932921	116932921	G	A	ATP1A1	c.1110G>A	NM_001160233.2	NP_001153705.1:p.(Thr370=)	NC_000001.10:g.116932921G>A	(Likely) benign	1 lab	93ffdbc327
2:29294527 PCARE C>T	2	29294527	29294527	C	T	PCARE	c.2601G>A	NM_001029883.3	NP_001025054.1:p.(Pro867=)	NC_000002.11:g.29294527C>T	(Likely) benign	1 lab	9401fc9e35
5:21765204 CDH12 G>A	5	21765204	21765204	G	A	CDH12	c.1398C>T	NM_004061.5	NP_004052.2:p.(Asn466=)	NC_000005.9:g.21765204G>A	(Likely) benign	1 lab	9402fb6fee
1:55525311 PCSK9 C>T	1	55525311	55525311	C	T	PCSK9	c.1656C>T	NM_174936.4	NP_777596.2:p.(Cys552=)	NC_000001.10:g.55525311C>T	(Likely) benign	1 lab	940300d1a6
X:74456485 MISSING C>Alt too long to show for this DUP	X	74456485	74659719	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.74456487_74659719dup	VUS	1 lab	9403e2567d
4:93270472 GRID2 Ref too long to show for this DEL>T	4	93270472	93317931	Ref too long to show for this DEL	T	GRID2	c.88+44578_88+92036del	NM_001510.4	NP_001501.2:p.?	NC_000004.11:g.93270473_93317931del	VUS	1 lab	94047c8322
X:31792147 DMD T>C	X	31792147	31792147	T	C	DMD	c.7472A>G	NM_004006.3	NP_003997.2:p.(Gln2491Arg)	NC_000023.10:g.31792147T>C	(Likely) benign	1 lab	94071a71c3
19:11227215 LDLR G>A	19	11227215	11227215	G	A	LDLR	c.1706-320G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227215G>A	(Likely) benign	1 lab	940c7032a2
8:3287062 CSMD1 Ref too long to show for this DEL>A	8	3287062	3519630	Ref too long to show for this DEL	A	CSMD1	c.1010-45310_1562-19936del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3287064_3519630del	VUS	1 lab	940d4a8a3a
9:35684822 TPM2 C>CG	9	35684822	35684830	C	CG	TPM2	c.564-19dup	NM_003289.4	NP_003280.2:p.?	NC_000009.11:g.35684830dup	(Likely) benign	1 lab	940ea22a75
X:139586554 SOX3 G>C	X	139586554	139586554	G	C	SOX3	c.672C>G	NM_005634.3	NP_005625.2:p.(Ser224=)	NC_000023.10:g.139586554G>C	(Likely) benign	1 lab	94111055db
1:150526206 ADAMTSL4 GC>G	1	150526206	150526212	GC	G	ADAMTSL4	c.745del	NM_019032.6	NP_061905.2:p.(Leu249TyrfsTer21)	NC_000001.10:g.150526212del	(Likely) pathogenic	1 lab	94112c467d
18:77470446 CTDP1 C>T	18	77470446	77470446	C	T	CTDP1	c.863+10C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77470446C>T	(Likely) benign	1 lab	94119cd73f
2:179428726 TTN T>G	2	179428726	179428726	T	G	TTN	c.82133A>C	NM_001267550.2	NP_001254479.2:p.(Lys27378Thr)	NC_000002.11:g.179428726T>G	VUS	1 lab	9412ac116c
11:76901828 MYO7A G>A	11	76901828	76901828	G	A	MYO7A	c.3837G>A	NM_000260.4	NP_000251.3:p.(Thr1279=)	NC_000011.9:g.76901828G>A	(Likely) benign	1 lab	941518be06
X:70443616 GJB1 T>A	X	70443616	70443616	T	A	GJB1	c.59T>A	NM_000166.6	NP_000157.1:p.(Ile20Asn)	NC_000023.10:g.70443616T>A	(Likely) pathogenic	1 lab	94163a90a6
17:7321016 NLGN2 G>C	17	7321016	7321016	G	C	NLGN2	c.2406G>C	NM_020795.4	NP_065846.1:p.(Pro802=)	NC_000017.10:g.7321016G>C	(Likely) benign	1 lab	9416b210e8
2:179460351 TTN T>G	2	179460351	179460351	T	G	TTN	c.57730A>C	NM_001267550.2	NP_001254479.2:p.(Thr19244Pro)	NC_000002.11:g.179460351T>G	VUS	1 lab	941c4af649
15:48755449 FBN1 G>A	15	48755449	48755449	G	A	FBN1	c.5066-12C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48755449G>A	(Likely) benign	1 lab	941d0a4651
2:179578047 TTN T>C	2	179578047	179578047	T	C	TTN	c.26814A>G	NM_001267550.2	NP_001254479.2:p.(Leu8938=)	NC_000002.11:g.179578047T>C	(Likely) benign	1 lab	941f8a6f3f
12:32777359 FGD4 T>C	12	32777359	32777359	T	C	FGD4	c.483T>C	NM_001304484.2	NP_001291413.1:p.(Ser161=)	NC_000012.11:g.32777359T>C	(Likely) benign	1 lab	94204049dc
1:66075712 LEPR G>A	1	66075712	66075712	G	A	LEPR	c.1835G>A	NM_001003679.3	NP_001003679.1:p.(Arg612His)	NC_000001.10:g.66075712G>A	(Likely) pathogenic	1 lab	9420b9ccb8
18:47113140 LIPG T>C	18	47113140	47113140	T	C	LIPG	c.1401T>C	NM_006033.4	NP_006024.1:p.(Pro467=)	NC_000018.9:g.47113140T>C	(Likely) benign	1 lab	942125236a
X:63410529 AMER1 G>A	X	63410529	63410529	G	A	AMER1	c.2638C>T	NM_152424.4	NP_689637.3:p.(Pro880Ser)	NC_000023.10:g.63410529G>A	(Likely) benign	1 lab	94255b8f37
X:38996905 MISSING T>Alt too long to show for this DUP	X	38996905	39533737	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.38996906_39533737dup	(Likely) pathogenic	1 lab	9428e64839
8:19818771 LPL A>AGGGG	8	19818771	19818780	A	AGGGG	LPL	c.1322+183_1322+186dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818777_19818780dup	(Likely) benign	1 lab	942c7bd355
7:94044698 COL1A2 G>A	7	94044698	94044698	G	A	COL1A2	c.1764+116G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94044698G>A	(Likely) benign	1 lab	94318e7838
11:1018331 MUC6 G>A	11	1018331	1018331	G	A	MUC6	c.4470C>T	NM_005961.3	NP_005952.2:p.(Leu1490=)	NC_000011.9:g.1018331G>A	(Likely) benign	1 lab	9432e3483f
2:44104952 ABCG8 A>T	2	44104952	44104952	A	T	ABCG8	c.1922A>T	NM_022437.3	NP_071882.1:p.(Tyr641Phe)	NC_000002.11:g.44104952A>T	VUS	1 lab	943335c305
16:919019 LMF1 C>T	16	919019	919019	C	T	LMF1	c.1374G>A	NM_001352020.1	NP_001338949.1:p.(Trp458Ter)	NC_000016.9:g.919019C>T	VUS	1 lab	94334b2735
2:44066219 ABCG8 A>G	2	44066219	44066219	A	G	ABCG8	c.27A>G	NM_022437.3	NP_071882.1:p.(Arg9=)	NC_000002.11:g.44066219A>G	(Likely) benign	1 lab	9436b5119d
1:3329298 PRDM16 G>A	1	3329298	3329298	G	A	PRDM16	c.2537G>A	NM_022114.4	NP_071397.3:p.(Arg846Gln)	NC_000001.10:g.3329298G>A	(Likely) benign	1 lab	9437b4aa63
19:2111339 AP3D1 T>C	19	2111339	2111339	T	C	AP3D1	c.2938-8A>G	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2111339T>C	(Likely) benign	1 lab	9437e7e81f
9:111658881 ELP1 G>A	9	111658881	111658881	G	A	ELP1	c.2631C>T	NM_003640.5	NP_003631.2:p.(Ala877=)	NC_000009.11:g.111658881G>A	(Likely) benign	1 lab	9438a7629a
12:32793263 FGD4 G>A	12	32793263	32793263	G	A	FGD4	c.1065G>A	NM_001304484.2	NP_001291413.1:p.(Met355Ile)	NC_000012.11:g.32793263G>A	VUS	1 lab	94394ade51
7:78264473 MAGI2 Ref too long to show for this DEL>C	7	78264473	78282762	Ref too long to show for this DEL	C	MAGI2	c.419-26207_419-7919del	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.78264474_78282762del	VUS	1 lab	943995459f
2:219677025 CYP27A1 A>G	2	219677025	219677025	A	G	CYP27A1	c.527A>G	NM_000784.4	NP_000775.1:p.(Asp176Gly)	NC_000002.11:g.219677025A>G	VUS	1 lab	9442b595e5
9:137644532 COL5A1 G>C	9	137644532	137644532	G	C	COL5A1	c.1719+41G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137644532G>C	(Likely) benign	1 lab	94437312d1
15:42126999 JMJD7-PLA2G4B C>T	15	42126999	42126999	C	T	JMJD7-PLA2G4B	c.126C>T	NM_005090.4	NP_005081.1:p.(Tyr42=)	NC_000015.9:g.42126999C>T	(Likely) benign	1 lab	94439848c2
5:133943857 SAR1B C>G	5	133943857	133943857	C	G	SAR1B	c.480+205G>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133943857C>G	(Likely) benign	1 lab	9447c47058
3:195690227 MISSING Ref too long to show for this DEL>G	3	195690227	197398439	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.195690230_197398439del	(Likely) pathogenic	1 lab	944bce7a41
19:11223984 LDLR G>A	19	11223984	11223984	G	A	LDLR	c.1217G>A	NM_000527.5	NP_000518.1:p.(Arg406Gln)	NC_000019.9:g.11223984G>A	(Likely) pathogenic	1 lab	944c5255a1
2:21232362 APOB G>A	2	21232362	21232362	G	A	APOB	c.7378C>T	NM_000384.3	NP_000375.3:p.(Pro2460Ser)	NC_000002.11:g.21232362G>A	VUS	1 lab	944d072b0f
6:16130925 MYLIP A>G	6	16130925	16130925	A	G	MYLIP	c.225A>G	NM_013262.4	NP_037394.2:p.(Lys75=)	NC_000006.11:g.16130925A>G	(Likely) benign	1 lab	944e54933e
4:74283984 ALB T>C	4	74283984	74283984	T	C	ALB	c.1608T>C	NM_000477.7	NP_000468.1:p.(Asp536=)	NC_000004.11:g.74283984T>C	(Likely) benign	1 lab	9453971315
X:100490911 DRP2 C>A	X	100490911	100490911	C	A	DRP2	c.180C>A	NM_001939.3	NP_001930.2:p.(Ser60Arg)	NC_000023.10:g.100490911C>A	(Likely) benign	1 lab	9453f4e6f1
3:38802700 SCN10A T>C	3	38802700	38802700	T	C	SCN10A	c.866A>G	NM_006514.4	NP_006505.4:p.(Tyr289Cys)	NC_000003.11:g.38802700T>C	(Likely) benign	1 lab	9455b17e1e
7:75933175 HSPB1 A>C	7	75933175	75933175	A	C	HSPB1	c.421A>C	NM_001540.5	NP_001531.1:p.(Lys141Gln)	NC_000007.13:g.75933175A>C	(Likely) pathogenic	1 lab	9456402838
16:15491526 MISSING Ref too long to show for this DEL>G	16	15491526	16362707	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.15491527_16362707del	(Likely) pathogenic	1 lab	9457ebebb8
15:45390214 DUOX2 G>A	15	45390214	45390214	G	A	DUOX2	c.3558C>T	NM_014080.5	NP_054799.4:p.(Thr1186=)	NC_000015.9:g.45390214G>A	(Likely) benign	1 lab	9458807551
13:23898693 SGCG C>T	13	23898693	23898693	C	T	SGCG	c.*13C>T	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23898693C>T	(Likely) benign	1 lab	945b6e146f
2:73761944 ALMS1 TC>T	2	73761944	73761946	TC	T	ALMS1	c.9785-5del	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73761946del	(Likely) benign	1 lab	945ca81eda
12:57969443 KIF5A G>A	12	57969443	57969443	G	A	KIF5A	c.1926G>A	NM_004984.4	NP_004975.2:p.(Ser642=)	NC_000012.11:g.57969443G>A	(Likely) benign	1 lab	945dba21b4
6:7578223 DSP C>A	6	7578223	7578223	C	A	DSP	c.2985+104C>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578223C>A	(Likely) benign	1 lab	945e0d99a0
11:108190748 ATM G>T	11	108190748	108190748	G	T	ATM	c.6415G>T	NM_000051.4	NP_000042.3:p.(Glu2139Ter)	NC_000011.9:g.108190748G>T	(Likely) pathogenic	1 lab	945e67818c
11:7793638 MISSING Ref too long to show for this DEL>C	11	7793638	7931094	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.7793639_7931094del	VUS	1 lab	946391d28e
10:88476106 LDB3 G>A	10	88476106	88476106	G	A	LDB3	c.1269G>A	NM_001171610.2	NP_001165081.1:p.(Pro423=)	NC_000010.10:g.88476106G>A	(Likely) benign	1 lab	94665bf435
11:68675603 IGHMBP2 G>C	11	68675603	68675603	G	C	IGHMBP2	c.257-10G>C	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68675603G>C	(Likely) benign	1 lab	946d4f4edd
5:10265076 CCT5 C>T	5	10265076	10265076	C	T	CCT5	c.*181C>T	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265076C>T	(Likely) benign	1 lab	946f8da02b
17:10299899 MYH8 G>A	17	10299899	10299899	G	A	MYH8	c.4499C>T	NM_002472.3	NP_002463.2:p.(Thr1500Met)	NC_000017.10:g.10299899G>A	(Likely) benign	1 lab	9473da8c6c
9:35704322 TLN1 G>A	9	35704322	35704322	G	A	TLN1	c.6047+7C>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35704322G>A	(Likely) benign	1 lab	9479f78f3b
2:44073297 ABCG8 G>C	2	44073297	44073297	G	C	ABCG8	c.169G>C	NM_022437.3	NP_071882.1:p.(Asp57His)	NC_000002.11:g.44073297G>C	VUS	1 lab	947be8b44e
9:2717738 KCNV2 C>T	9	2717738	2717738	C	T	KCNV2	c.-2C>T	NM_133497.4	NP_598004.1:p.?	NC_000009.11:g.2717738C>T	(Likely) benign	1 lab	947c3d445c
5:172660522 NKX2-5 ATAAAT>A	5	172660522	172660527	ATAAAT	A	NKX2-5	c.335-23_335-19del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523_172660527del	(Likely) benign	1 lab	947d3add35
9:107550203 ABCA1 G>T	9	107550203	107550203	G	T	ABCA1	c.6202C>A	NM_005502.4	NP_005493.2:p.(Leu2068Met)	NC_000009.11:g.107550203G>T	VUS	1 lab	947ddce1a6
19:41916549 BCKDHA C>A	19	41916549	41916549	C	A	BCKDHA	c.116C>A	NM_000709.4	NP_000700.1:p.(Pro39His)	NC_000019.9:g.41916549C>A	(Likely) benign	1 lab	9485e1d219
1:2237665 SKI C>T	1	2237665	2237665	C	T	SKI	c.1974C>T	NM_003036.4	NP_003027.1:p.(Arg658=)	NC_000001.10:g.2237665C>T	(Likely) benign	1 lab	94870637ac
20:33594226 TRPC4AP G>T	20	33594226	33594226	G	T	TRPC4AP	c.1827+12C>A	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33594226G>T	(Likely) benign	1 lab	948852e72c
1:239689972 CHRM3 Ref too long to show for this DEL>T	1	239689972	239768800	Ref too long to show for this DEL	T	CHRM3	c.-421-18968_-312-26724del	NM_001375978.1	NP_001362907.1:p.?	NC_000001.10:g.239689973_239768800del	VUS	1 lab	94885e9dd2
18:56936395 RAX T>C	18	56936395	56936395	T	C	RAX	c.882A>G	NM_013435.3	NP_038463.2:p.(Gln294=)	NC_000018.9:g.56936395T>C	(Likely) benign	1 lab	948c118ac7
15:72208707 MYO9A T>C	15	72208707	72208707	T	C	MYO9A	c.2685+4A>G	NM_006901.4	NP_008832.2:p.?	NC_000015.9:g.72208707T>C	VUS	1 lab	949103846a
2:198267491 SF3B1 C>A	2	198267491	198267491	C	A	SF3B1	c.1866G>T	NM_012433.4	NP_036565.2:p.(Glu622Asp)	NC_000002.11:g.198267491C>A	VUS	1 lab	949206e9cb
1:12855884 PRAMEF1 C>T	1	12855884	12855884	C	T	PRAMEF1	c.1164C>T	NM_023013.4	NP_075389.2:p.(Cys388=)	NC_000001.10:g.12855884C>T	(Likely) benign	1 lab	949499cc31
15:73617744 HCN4 C>T	15	73617744	73617744	C	T	HCN4	c.1632G>A	NM_005477.3	NP_005468.1:p.(Pro544=)	NC_000015.9:g.73617744C>T	(Likely) benign	1 lab	94992b4106
16:15844072 MYH11 G>C	16	15844072	15844072	G	C	MYH11	c.1981C>G	NM_002474.3	NP_002465.1:p.(Leu661Val)	NC_000016.9:g.15844072G>C	VUS	1 lab	949e6211e6
2:96944316 SNRNP200 G>A	2	96944316	96944316	G	A	SNRNP200	c.5457C>T	NM_014014.5	NP_054733.2:p.(Ala1819=)	NC_000002.11:g.96944316G>A	(Likely) benign	1 lab	949f2eb860
22:17684499 ADA2 T>C	22	17684499	17684499	T	C	ADA2	c.707A>G	NM_001282225.2	NP_001269154.1:p.(Tyr236Cys)	NC_000022.10:g.17684499T>C	VUS	1 lab	949f4a51b8
12:48369782 COL2A1 A>C	12	48369782	48369782	A	C	COL2A1	c.3561T>G	NM_001844.5	NP_001835.3:p.(Pro1187=)	NC_000012.11:g.48369782A>C	(Likely) benign	1 lab	94a62fb898
17:57651196 DHX40 A>G	17	57651196	57651196	A	G	DHX40	c.642A>G	NM_024612.5	NP_078888.4:p.(Glu214=)	NC_000017.10:g.57651196A>G	(Likely) benign	1 lab	94a72a1810
19:39009913 RYR1 C>T	19	39009913	39009913	C	T	RYR1	c.10078C>T	NM_000540.3	NP_000531.2:p.(Pro3360Ser)	NC_000019.9:g.39009913C>T	VUS	1 lab	94ad7497ba
9:137706992 COL5A1 G>A	9	137706992	137706992	G	A	COL5A1	c.4014+242G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137706992G>A	(Likely) benign	1 lab	94ae59721b
12:50498119 GPD1 G>A	12	50498119	50498119	G	A	GPD1	c.42-238G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498119G>A	(Likely) benign	1 lab	94b17651c9
2:179426646 TTN G>C	2	179426646	179426646	G	C	TTN	c.84213C>G	NM_001267550.2	NP_001254479.2:p.(Ser28071Arg)	NC_000002.11:g.179426646G>C	VUS	1 lab	94b457e8a7
9:2718356 KCNV2 G>A	9	2718356	2718356	G	A	KCNV2	c.617G>A	NM_133497.4	NP_598004.1:p.(Arg206Gln)	NC_000009.11:g.2718356G>A	VUS	1 lab	94b6f766f5
2:219678840 CYP27A1 G>A	2	219678840	219678840	G	A	CYP27A1	c.1114G>A	NM_000784.4	NP_000775.1:p.(Gly372Arg)	NC_000002.11:g.219678840G>A	VUS	1 lab	94befa4b37
3:53531283 CACNA1D G>A	3	53531283	53531283	G	A	CACNA1D	c.172G>A	NM_000720.4	NP_000711.1:p.(Asp58Asn)	NC_000003.11:g.53531283G>A	VUS	1 lab	94bf158465
9:107646702 ABCA1 A>G	9	107646702	107646702	A	G	ABCA1	c.302+6T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646702A>G	(Likely) pathogenic	1 lab	94c026c384
19:11216046 LDLR G>A	19	11216046	11216046	G	A	LDLR	c.464G>A	NM_000527.5	NP_000518.1:p.(Cys155Tyr)	NC_000019.9:g.11216046G>A	(Likely) pathogenic	1 lab	94c2f487bb
1:156834512 NTRK1 C>T	1	156834512	156834512	C	T	NTRK1	c.288-8C>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156834512C>T	(Likely) benign	1 lab	94c6eb6b3b
1:241669264 MISSING G>Alt too long to show for this DUP	1	241669264	241729868	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.241669265_241729868dup	VUS	1 lab	94c943d50b
16:29825957 PRRT2 T>C	16	29825957	29825957	T	C	PRRT2	c.1021T>C	NM_145239.3	NP_660282.2:p.(Ter341ArgextTer28)	NC_000016.9:g.29825957T>C	(Likely) pathogenic	1 lab	94c9b7d299
9:21802984 MTAP AACACAC>A	9	21802984	21803036	AACACAC	A	MTAP	c.33+251_33+256del	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21803031_21803036del	(Likely) benign	1 lab	94cd3d0934
15:31295003 TRPM1 G>A	15	31295003	31295003	G	A	TRPM1	c.3951C>T	NM_001252020.2	NP_001238949.1:p.(Asn1317=)	NC_000015.9:g.31295003G>A	VUS	1 lab	94cfe7f971
11:108178644 ATM T>C	11	108178644	108178644	T	C	ATM	c.5695T>C	NM_000051.4	NP_000042.3:p.(Cys1899Arg)	NC_000011.9:g.108178644T>C	VUS	1 lab	94d30c5bc1
X:70443621 GJB1 C>T	X	70443621	70443621	C	T	GJB1	c.64C>T	NM_000166.6	NP_000157.1:p.(Arg22Ter)	NC_000023.10:g.70443621C>T	(Likely) pathogenic	1 lab	94d4785b7f
8:19809794 LPL C>A	8	19809794	19809794	C	A	LPL	c.429+335C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809794C>A	(Likely) benign	1 lab	94d50902a6
5:1411346 SLC6A3 C>T	5	1411346	1411346	C	T	SLC6A3	c.1269+12G>A	NM_001044.5	NP_001035.1:p.?	NC_000005.9:g.1411346C>T	(Likely) benign	1 lab	958acba9e5
19:11226817 LDLR G>A	19	11226817	11226817	G	A	LDLR	c.1634G>A	NM_000527.5	NP_000518.1:p.(Gly545Glu)	NC_000019.9:g.11226817G>A	(Likely) pathogenic	1 lab	94d578db4b
2:29670226 ALK Ref too long to show for this DEL>A	2	29670226	29705553	Ref too long to show for this DEL	A	ALK	c.1154+49228_1155-63502del	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29670227_29705553del	VUS	1 lab	94d71bfc08
12:125348186 SCARB1 G>T	12	125348186	125348186	G	T	SCARB1	c.81C>A	NM_001367981.1	NP_001354910.1:p.(Val27=)	NC_000012.11:g.125348186G>T	(Likely) benign	1 lab	94d9dc7ccb
2:179497989 TTN G>A	2	179497989	179497989	G	A	TTN	c.43011C>T	NM_001267550.2	NP_001254479.2:p.(His14337=)	NC_000002.11:g.179497989G>A	(Likely) benign	1 lab	94dc0ee0f9
2:47672680 MSH2 C>A	2	47672680	47672680	C	A	MSH2	c.1277-7C>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47672680C>A	VUS	1 lab	94dd82bf8f
5:59300186 PDE4D T>C	5	59300186	59300186	T	C	PDE4D	c.-61-13A>G	NM_001349241.2	NP_001336170.1:p.?	NC_000005.9:g.59300186T>C	(Likely) benign	1 lab	94df16fd4b
10:90701577 ACTA2 G>A	10	90701577	90701577	G	A	ACTA2	c.419C>T	NM_001141945.2	NP_001135417.1:p.(Ala140Val)	NC_000010.10:g.90701577G>A	(Likely) pathogenic	1 lab	94df8cfded
9:139418212 NOTCH1 G>C	9	139418212	139418212	G	C	NOTCH1	c.360C>G	NM_017617.5	NP_060087.3:p.(Leu120=)	NC_000009.11:g.139418212G>C	(Likely) benign	1 lab	94dfa4c517
8:19816865 LPL C>T	8	19816865	19816865	C	T	LPL	c.1113C>T	NM_000237.3	NP_000228.1:p.(Ala371=)	NC_000008.10:g.19816865C>T	(Likely) benign	1 lab	94e3308309
14:23876273 MYH6 G>A	14	23876273	23876273	G	A	MYH6	c.160C>T	NM_002471.4	NP_002462.2:p.(Arg54Trp)	NC_000014.8:g.23876273G>A	VUS	1 lab	94e3792be4
16:13950977 MISSING T>Alt too long to show for this DUP	16	13950977	14173903	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.13950979_14173903dup	VUS	1 lab	94e379aced
16:88497003 ZNF469 G>A	16	88497003	88497003	G	A	ZNF469	c.3125G>A	NM_001367624.2	NP_001354553.1:p.(Arg1042Gln)	NC_000016.9:g.88497003G>A	(Likely) benign	1 lab	94e3828509
20:62679713 SOX18 C>T	20	62679713	62679713	C	T	SOX18	c.961G>A	NM_018419.3	NP_060889.1:p.(Asp321Asn)	NC_000020.10:g.62679713C>T	(Likely) benign	1 lab	94e7478459
5:148408118 SH3TC2 C>T	5	148408118	148408118	C	T	SH3TC2	c.1178-1G>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148408118C>T	(Likely) pathogenic	1 lab	94e7ce4c63
16:1020932 LMF1 T>G	16	1020932	1020932	T	G	LMF1	c.49A>C	NM_022773.4	NP_073610.2:p.(Arg17=)	NC_000016.9:g.1020932T>G	(Likely) benign	1 lab	94e82248bd
1:10327426 KIF1B AT>A	1	10327426	10327429	AT	A	KIF1B	c.430-9del	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10327429del	(Likely) benign	1 lab	94e932cc07
10:68479218 CTNNA3 Ref too long to show for this DEL>G	10	68479218	68535287	Ref too long to show for this DEL	G	CTNNA3	c.1048-4_1281+46803del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68479220_68535287del	VUS	1 lab	94eb12aee7
5:10265488 CCT5 A>G	5	10265488	10265488	A	G	CCT5	c.*593A>G	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265488A>G	(Likely) benign	1 lab	94ecb766b4
20:62624793 PRPF6 T>C	20	62624793	62624793	T	C	PRPF6	c.393T>C	NM_012469.4	NP_036601.2:p.(Tyr131=)	NC_000020.10:g.62624793T>C	(Likely) benign	1 lab	94f29c3b5e
22:51020792 CHKB G>A	22	51020792	51020792	G	A	CHKB	c.225-6C>T	NM_005198.5	NP_005189.2:p.?	NC_000022.10:g.51020792G>A	(Likely) benign	1 lab	94f350a8ac
3:195506091 MUC4 A>C	3	195506091	195506091	A	C	MUC4	c.12360T>G	NM_018406.7	NP_060876.5:p.(Ser4120=)	NC_000003.11:g.195506091A>C	(Likely) benign	1 lab	94f4cd9f1e
15:28483791 HERC2 T>C	15	28483791	28483791	T	C	HERC2	c.3705A>G	NM_004667.6	NP_004658.3:p.(Ile1235Met)	NC_000015.9:g.28483791T>C	VUS	1 lab	94f6c30273
19:45411122 APOE G>C	19	45411122	45411122	G	C	APOE	c.227G>C	NM_001302688.2	NP_001289617.1:p.(Arg76Pro)	NC_000019.9:g.45411122G>C	VUS	1 lab	94f6e256e3
2:219679669 CYP27A1 G>T	2	219679669	219679669	G	T	CYP27A1	c.1512G>T	NM_000784.4	NP_000775.1:p.(Glu504Asp)	NC_000002.11:g.219679669G>T	VUS	1 lab	94f792027c
X:129272617 AIFM1 G>A	X	129272617	129272617	G	A	AIFM1	c.918C>T	NM_001130847.4	NP_001124319.1:p.(Ile306=)	NC_000023.10:g.129272617G>A	(Likely) benign	1 lab	94fcb47f1b
X:32674745 DMD T>Alt too long to show for this DUP	X	32674745	32701978	T	Alt too long to show for this DUP	DMD	c.960+14012_961-11477dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32674749_32701978dup	VUS	1 lab	94ff1548fb
X:2690261 MISSING Ref too long to show for this DEL>T	X	2690261	3593356	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.2690262_3593356del	(Likely) pathogenic	1 lab	950b0c1d59
8:1876835 ARHGEF10 G>A	8	1876835	1876835	G	A	ARHGEF10	c.2993+19G>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1876835G>A	(Likely) benign	1 lab	950e021010
4:996501 IDUA GC>G	4	996501	996510	GC	G	IDUA	c.1190-10del	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996510del	(Likely) benign	1 lab	950ee636d1
2:189864038 COL3A1 G>A	2	189864038	189864038	G	A	COL3A1	c.2050G>A	NM_000090.4	NP_000081.2:p.(Gly684Arg)	NC_000002.11:g.189864038G>A	(Likely) pathogenic	1 lab	951360eb74
7:103202406 RELN C>CAAAAAA	7	103202406	103202425	C	CAAAAAA	RELN	c.5211-12_5211-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202420_103202425dup	(Likely) benign	1 lab	95139153a1
1:186336997 MISSING G>Alt too long to show for this DUP	1	186336997	186565262	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.186336999_186565262dup	VUS	1 lab	9514a0d024
12:2778090 CACNA1C C>T	12	2778090	2778090	C	T	CACNA1C	c.4768-9C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2778090C>T	(Likely) benign	1 lab	95c3325ea3
9:107547931 ABCA1 G>GA	9	107547931	107547937	G	GA	ABCA1	c.6402-12dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547937dup	(Likely) benign	1 lab	9515931e7a
1:25890138 LDLRAP1 C>A	1	25890138	25890138	C	A	LDLRAP1	c.617-14C>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890138C>A	(Likely) pathogenic	1 lab	95178e9961
2:112740571 MERTK G>GT	2	112740571	112740572	G	GT	MERTK	c.1296+2dup	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112740572dup	(Likely) pathogenic	1 lab	9519fa6fd0
19:11215543 LDLR C>A	19	11215543	11215543	C	A	LDLR	c.314-353C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215543C>A	(Likely) benign	1 lab	951fdfde35
4:185612877 PRIMPOL AT>A	4	185612877	185612881	AT	A	PRIMPOL	c.1464+15del	NM_001345891.2	NP_001332820.1:p.?	NC_000004.11:g.185612881del	(Likely) benign	1 lab	9524073360
6:100838438 SIM1 G>C	6	100838438	100838438	G	C	SIM1	c.2100C>G	NM_005068.3	NP_005059.2:p.(Gly700=)	NC_000006.11:g.100838438G>C	(Likely) benign	1 lab	9524c78f3b
9:133936554 LAMC3 C>T	9	133936554	133936554	C	T	LAMC3	c.2291C>T	NM_006059.4	NP_006050.3:p.(Thr764Met)	NC_000009.11:g.133936554C>T	(Likely) benign	1 lab	952586a848
18:18529850 MISSING T>Alt too long to show for this DUP	18	18529850	19099550	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.18529852_19099550dup	VUS	1 lab	95296a9bb9
18:21136584 NPC1 G>A	18	21136584	21136584	G	A	NPC1	c.956-7C>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21136584G>A	(Likely) benign	1 lab	952996bed5
2:202590181 ALS2 C>T	2	202590181	202590181	C	T	ALS2	c.3249-4G>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202590181C>T	(Likely) benign	1 lab	9529a8d561
22:40621328 MISSING Ref too long to show for this DEL>A	22	40621328	40792709	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.40621331_40792709del	(Likely) pathogenic	1 lab	952c071ee1
8:110066410 MISSING C>Alt too long to show for this DUP	8	110066410	110180462	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.110066412_110180462dup	VUS	1 lab	952cf1beb5
9:113192279 SVEP1 A>T	9	113192279	113192279	A	T	SVEP1	c.5536T>A	NM_153366.4	NP_699197.3:p.(Ser1846Thr)	NC_000009.11:g.113192279A>T	(Likely) benign	1 lab	952e5830c5
19:11222259 LDLR G>A	19	11222259	11222259	G	A	LDLR	c.1130G>A	NM_000527.5	NP_000518.1:p.(Cys377Tyr)	NC_000019.9:g.11222259G>A	(Likely) pathogenic	1 lab	9535664b4d
12:2788878 CACNA1C C>T	12	2788878	2788878	C	T	CACNA1C	c.5504C>T	NM_199460.4	NP_955630.3:p.(Thr1835Met)	NC_000012.11:g.2788878C>T	(Likely) benign	1 lab	9536dccd36
9:125487011 OR1L4 T>C	9	125487011	125487011	T	C	OR1L4	c.743T>C	NM_001005235.1	NP_001005235.1:p.(Val248Ala)	NC_000009.11:g.125487011T>C	(Likely) benign	1 lab	953bfd637c
3:183860168 EIF2B5 T>C	3	183860168	183860168	T	C	EIF2B5	c.1444+2T>C	NM_003907.3	NP_003898.2:p.?	NC_000003.11:g.183860168T>C	(Likely) pathogenic	1 lab	9540f410f9
15:52676537 MYO5A T>C	15	52676537	52676537	T	C	MYO5A	c.1753-18A>G	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52676537T>C	(Likely) benign	1 lab	9542bcdf5d
X:23848866 MISSING C>Alt too long to show for this DUP	X	23848866	23874611	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.23848869_23874611dup	VUS	1 lab	9544cdd40b
8:19796829 LPL A>G	8	19796829	19796829	A	G	LPL	c.-123A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796829A>G	VUS	1 lab	9545a964de
7:92157600 PEX1 G>A	7	92157600	92157600	G	A	PEX1	c.-531+21C>T	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92157600G>A	(Likely) benign	1 lab	9546558d50
2:189867240 COL3A1 G>A	2	189867240	189867240	G	A	COL3A1	c.2445+163G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867240G>A	(Likely) benign	1 lab	954ea329c2
9:137701059 COL5A1 C>T	9	137701059	137701059	C	T	COL5A1	c.3397C>T	NM_000093.5	NP_000084.3:p.(Arg1133Ter)	NC_000009.11:g.137701059C>T	(Likely) pathogenic	1 lab	955765b14a
7:154103000 DPP6 Ref too long to show for this DEL>T	7	154103000	154182199	Ref too long to show for this DEL	T	DPP6	c.244-40298_457+10077del	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154103001_154182199del	VUS	1 lab	9558bc31ea
1:91382406 ZNF644 G>A	1	91382406	91382406	G	A	ZNF644	c.3933C>T	NM_201269.3	NP_958357.1:p.(Ala1311=)	NC_000001.10:g.91382406G>A	(Likely) benign	1 lab	9559190c49
17:48265484 COL1A1 G>A	17	48265484	48265484	G	A	COL1A1	c.3234C>T	NM_000088.4	NP_000079.2:p.(Val1078=)	NC_000017.10:g.48265484G>A	(Likely) benign	1 lab	955a090516
4:114274301 ANK2 G>A	4	114274301	114274301	G	A	ANK2	c.4527G>A	NM_001148.6	NP_001139.3:p.(Glu1509=)	NC_000004.11:g.114274301G>A	(Likely) benign	1 lab	9577c03a78
8:100454751 VPS13B G>A	8	100454751	100454751	G	A	VPS13B	c.3333G>A	NM_017890.5	NP_060360.3:p.(Pro1111=)	NC_000008.10:g.100454751G>A	(Likely) benign	1 lab	955b3a1498
11:75509428 DGAT2 C>T	11	75509428	75509428	C	T	DGAT2	c.966C>T	NM_032564.5	NP_115953.2:p.(Ser322=)	NC_000011.9:g.75509428C>T	(Likely) benign	1 lab	955ff0fe7f
11:47359587 MYBPC3 C>T	11	47359587	47359587	C	T	MYBPC3	c.2309-242G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359587C>T	(Likely) benign	1 lab	9560cbacb3
16:67977156 LCAT C>T	16	67977156	67977156	C	T	LCAT	c.155-41G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977156C>T	VUS	1 lab	95616bb576
5:45696068 HCN1 G>T	5	45696068	45696068	G	T	HCN1	c.128C>A	NM_021072.4	NP_066550.2:p.(Pro43Gln)	NC_000005.9:g.45696068G>T	(Likely) benign	1 lab	9562ee8a7a
6:32046853 TNXB G>A	6	32046853	32046853	G	A	TNXB	c.4332C>T	NM_019105.8	NP_061978.6:p.(His1444=)	NC_000006.11:g.32046853G>A	(Likely) benign	1 lab	9565fc0d69
11:9853984 SBF2 TAGAGA>T	11	9853984	9853995	TAGAGA	T	SBF2	c.3456-22_3456-18del	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9853991_9853995del	(Likely) benign	1 lab	956734cc75
8:144297336 GPIHBP1 A>G	8	144297336	144297336	A	G	GPIHBP1	c.498A>G	NM_178172.6	NP_835466.2:p.(Ala166=)	NC_000008.10:g.144297336A>G	(Likely) benign	1 lab	95678bae63
10:91007603 LIPA TTTTATTTA>T	10	91007603	91007640	TTTTATTTA	T	LIPA	c.-1-205_-1-198del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007633_91007640del	(Likely) benign	1 lab	9567db1593
19:11238807 LDLR C>T	19	11238807	11238807	C	T	LDLR	c.2389+46C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238807C>T	(Likely) benign	1 lab	9569765ec6
2:44100983 ABCG8 G>T	2	44100983	44100983	G	T	ABCG8	c.1269G>T	NM_022437.3	NP_071882.1:p.(Glu423Asp)	NC_000002.11:g.44100983G>T	(Likely) pathogenic	1 lab	95757f89e7
18:25589678 CDH2 T>C	18	25589678	25589678	T	C	CDH2	c.702+3A>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25589678T>C	VUS	1 lab	95772f40bd
7:150655407 KCNH2 T>A	7	150655407	150655407	T	A	KCNH2	c.656A>T	NM_000238.4	NP_000229.1:p.(Asp219Val)	NC_000007.13:g.150655407T>A	VUS	1 lab	9578398465
10:90983514 LIPA T>G	10	90983514	90983514	T	G	LIPA	c.749A>C	NM_000235.4	NP_000226.2:p.(His250Pro)	NC_000010.10:g.90983514T>G	(Likely) benign	1 lab	957a3e66ba
1:74808605 FPGT-TNNI3K G>T	1	74808605	74808605	G	T	FPGT-TNNI3K	c.1065G>T	NM_001112808.3	NP_001106279.3:p.(Leu355=)	NC_000001.10:g.74808605G>T	(Likely) benign	1 lab	957a977553
11:47370477 MYBPC3 A>ATATATATATATATATATATATATATATATATATATATT	11	47370477	47370479	A	ATATATATATATATATATATATATATATATATATATATT	MYBPC3	c.655-386_655-385insAATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATTT	(Likely) benign	1 lab	957b66a1eb
9:135797356 TSC1 G>A	9	135797356	135797356	G	A	TSC1	c.513C>T	NM_000368.5	NP_000359.1:p.(His171=)	NC_000009.11:g.135797356G>A	(Likely) benign	1 lab	957e4d8de5
10:85968529 CDHR1 C>A	10	85968529	85968529	C	A	CDHR1	c.1212C>A	NM_033100.4	NP_149091.1:p.(Gly404=)	NC_000010.10:g.85968529C>A	(Likely) benign	1 lab	957e6a7c8d
2:25045434 ADCY3 C>T	2	25045434	25045434	C	T	ADCY3	c.2952G>A	NM_001320613.2	NP_001307542.1:p.(Ala984=)	NC_000002.11:g.25045434C>T	(Likely) benign	1 lab	95837905e0
15:71535376 THSD4 C>T	15	71535376	71535376	C	T	THSD4	c.853C>T	NM_024817.2	NP_079093.2:p.(Arg285Ter)	NC_000015.9:g.71535376C>T	(Likely) pathogenic	1 lab	9586469cee
X:148684070 MISSING Ref too long to show for this DEL>G	X	148684070	148728641	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.148684072_148728641del	VUS	1 lab	9587eca66e
4:39184186 WDR19 AAAT>A	4	39184186	39184191	AAAT	A	WDR19	c.6+6_6+8del	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39184189_39184191del	VUS	1 lab	9589a77ffe
19:55341633 KIR3DL1 G>C	19	55341633	55341633	G	C	KIR3DL1	c.1238G>C	NM_013289.3	NP_037421.2:p.(Arg413Pro)	NC_000019.9:g.55341633G>C	(Likely) benign	1 lab	958ab5cdfb
2:179468600 TTN T>TA	2	179468600	179468601	T	TA	TTN	c.47107+2dup	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179468601dup	(Likely) pathogenic	1 lab	9590727cf0
4:154214141 TRIM2 A>G	4	154214141	154214141	A	G	TRIM2	c.380A>G	NM_001351056.2	NP_001337985.1:p.(Glu127Gly)	NC_000004.11:g.154214141A>G	VUS	1 lab	95931a9439
12:21358864 SLCO1B1 G>A	12	21358864	21358864	G	A	SLCO1B1	c.1394G>A	NM_006446.5	NP_006437.3:p.(Cys465Tyr)	NC_000012.11:g.21358864G>A	(Likely) benign	1 lab	9593cbefa0
10:55826644 PCDH15 G>A	10	55826644	55826644	G	A	PCDH15	c.2108C>T	NM_001142771.2	NP_001136243.1:p.(Thr703Ile)	NC_000010.10:g.55826644G>A	VUS	1 lab	95955f389e
11:47356918 MYBPC3 T>G	11	47356918	47356918	T	G	MYBPC3	c.2738-158A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356918T>G	(Likely) benign	1 lab	95966ddc45
4:22449130 ADGRA3 G>T	4	22449130	22449130	G	T	ADGRA3	c.478C>A	NM_145290.4	NP_660333.2:p.(Leu160Ile)	NC_000004.11:g.22449130G>T	(Likely) benign	1 lab	9597727ce9
15:66995932 SMAD6 C>A	15	66995932	66995932	C	A	SMAD6	c.336C>A	NM_005585.5	NP_005576.3:p.(Gly112=)	NC_000015.9:g.66995932C>A	(Likely) benign	1 lab	95a22a19d4
14:23893256 MYH7 C>T	14	23893256	23893256	C	T	MYH7	c.2782G>A	NM_000257.4	NP_000248.2:p.(Asp928Asn)	NC_000014.8:g.23893256C>T	(Likely) pathogenic	1 lab	95a3c30e9c
8:31004863 WRN C>G	8	31004863	31004863	C	G	WRN	c.3460-17C>G	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.31004863C>G	(Likely) benign	1 lab	95a465b9d9
19:17830383 MAP1S C>T	19	17830383	17830383	C	T	MAP1S	c.72C>T	NM_018174.6	NP_060644.4:p.(Phe24=)	NC_000019.9:g.17830383C>T	(Likely) benign	1 lab	95a630aacd
11:2593829 KCNQ1 C>T	11	2593829	2593829	C	T	KCNQ1	c.781-247C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2593829C>T	(Likely) benign	1 lab	95a67fa3f6
3:49028355 P4HTM C>T	3	49028355	49028355	C	T	P4HTM	c.436+8C>T	NM_177938.2	NP_808807.2:p.?	NC_000003.11:g.49028355C>T	(Likely) benign	1 lab	95a6a7e4e0
19:17322747 MYO9B G>C	19	17322747	17322747	G	C	MYO9B	c.6102G>C	NM_004145.4	NP_004136.2:p.(Pro2034=)	NC_000019.9:g.17322747G>C	(Likely) benign	1 lab	95a7ce54eb
X:20194608 RPS6KA3 G>T	X	20194608	20194608	G	T	RPS6KA3	c.943C>A	NM_004586.3	NP_004577.1:p.(Pro315Thr)	NC_000023.10:g.20194608G>T	VUS	1 lab	95a96d08e2
1:13709327 MISSING G>Alt too long to show for this DUP	1	13709327	13949888	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.13709330_13949888dup	VUS	1 lab	95abb490f7
9:103027228 INVS T>C	9	103027228	103027228	T	C	INVS	c.1571+18T>C	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103027228T>C	(Likely) benign	1 lab	95af66418f
1:12062090 MFN2 C>T	1	12062090	12062090	C	T	MFN2	c.1090C>T	NM_014874.4	NP_055689.1:p.(Arg364Trp)	NC_000001.10:g.12062090C>T	(Likely) pathogenic	1 lab	95b2a7a3fd
10:64573257 EGR2 G>A	10	64573257	64573257	G	A	EGR2	c.1141C>T	NM_000399.5	NP_000390.2:p.(Arg381Cys)	NC_000010.10:g.64573257G>A	(Likely) pathogenic	1 lab	95b3d058bc
7:128490495 FLNC A>C	7	128490495	128490495	A	C	FLNC	c.5356A>C	NM_001458.5	NP_001449.3:p.(Asn1786His)	NC_000007.13:g.128490495A>C	VUS	1 lab	95b9cdfdd4
9:135140018 SETX C>CA	9	135140018	135140020	C	CA	SETX	c.7641dup	NM_015046.7	NP_055861.3:p.(Glu2548Ter)	NC_000009.11:g.135140020dup	VUS	1 lab	95bb43ec53
11:121460846 SORL1 C>T	11	121460846	121460846	C	T	SORL1	c.4176C>T	NM_003105.6	NP_003096.2:p.(Asn1392=)	NC_000011.9:g.121460846C>T	(Likely) benign	1 lab	95bba80051
5:112176070 APC G>C	5	112176070	112176070	G	C	APC	c.4779G>C	NM_000038.6	NP_000029.2:p.(Lys1593Asn)	NC_000005.9:g.112176070G>C	VUS	1 lab	95bccf46c0
12:122265451 SETD1B C>T	12	122265451	122265451	C	T	SETD1B	c.5364C>T	NM_001353345.2	NP_001340274.1:p.(His1788=)	NC_000012.11:g.122265451C>T	(Likely) benign	1 lab	95bfd9a6fc
15:73636137 HCN4 G>A	15	73636137	73636137	G	A	HCN4	c.798C>T	NM_005477.3	NP_005468.1:p.(Asp266=)	NC_000015.9:g.73636137G>A	(Likely) benign	1 lab	95c224e94a
8:19813419 LPL T>C	8	19813419	19813419	T	C	LPL	c.843T>C	NM_000237.3	NP_000228.1:p.(Asn281=)	NC_000008.10:g.19813419T>C	(Likely) benign	1 lab	95c76617ab
X:34675138 TMEM47 C>G	X	34675138	34675138	C	G	TMEM47	c.9G>C	NM_031442.4	NP_113630.1:p.(Ser3=)	NC_000023.10:g.34675138C>G	(Likely) benign	1 lab	95c7761564
16:57003852 CETP G>A	16	57003852	57003852	G	A	CETP	c.466G>A	NM_000078.3	NP_000069.2:p.(Asp156Asn)	NC_000016.9:g.57003852G>A	VUS	1 lab	95c94af9e3
6:56485416 DST T>C	6	56485416	56485416	T	C	DST	c.3416A>G	NM_001723.7	NP_001714.1:p.(Lys1139Arg)	NC_000006.11:g.56485416T>C	(Likely) benign	1 lab	95c984877f
20:34091767 CEP250 G>A	20	34091767	34091767	G	A	CEP250	c.5570G>A	NM_007186.6	NP_009117.2:p.(Arg1857His)	NC_000020.10:g.34091767G>A	(Likely) benign	1 lab	95ccbc8fad
1:228404305 OBSCN G>A	1	228404305	228404305	G	A	OBSCN	c.2279G>A	NM_001386125.1	NP_001373054.1:p.(Arg760Gln)	NC_000001.10:g.228404305G>A	(Likely) benign	1 lab	95cf12e531
9:131284958 GLE1 G>A	9	131284958	131284958	G	A	GLE1	c.444G>A	NM_001003722.2	NP_001003722.1:p.(Arg148=)	NC_000009.11:g.131284958G>A	(Likely) benign	1 lab	95cf300bbb
X:2835989 ARSD A>C	X	2835989	2835989	A	C	ARSD	c.719T>G	NM_001669.4	NP_001660.2:p.(Phe240Cys)	NC_000023.10:g.2835989A>C	(Likely) benign	1 lab	95cf4d0db1
6:70983801 COL9A1 G>C	6	70983801	70983801	G	C	COL9A1	c.1030-16C>G	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70983801G>C	(Likely) benign	1 lab	95d324e62c
7:128483619 FLNC C>T	7	128483619	128483619	C	T	FLNC	c.2799C>T	NM_001458.5	NP_001449.3:p.(Thr933=)	NC_000007.13:g.128483619C>T	(Likely) benign	1 lab	95d5ffdc6e
5:14693030 OTULIN A>G	5	14693030	14693030	A	G	OTULIN	c.932A>G	NM_138348.6	NP_612357.4:p.(Asn311Ser)	NC_000005.9:g.14693030A>G	(Likely) benign	1 lab	95d684135c
2:179638761 TTN T>C	2	179638761	179638761	T	C	TTN	c.7134A>G	NM_001267550.2	NP_001254479.2:p.(Lys2378=)	NC_000002.11:g.179638761T>C	(Likely) benign	1 lab	95dcf16231
9:137618994 COL5A1 G>T	9	137618994	137618994	G	T	COL5A1	c.655-118G>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137618994G>T	(Likely) benign	1 lab	95dd1e3e47
15:85405851 ALPK3 C>G	15	85405851	85405851	C	G	ALPK3	c.4130-15C>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85405851C>G	(Likely) benign	1 lab	95de23927f
2:21255373 APOB T>C	2	21255373	21255373	T	C	APOB	c.1205A>G	NM_000384.3	NP_000375.3:p.(His402Arg)	NC_000002.11:g.21255373T>C	(Likely) benign	1 lab	95de59fd13
14:68251918 ZFYVE26 C>T	14	68251918	68251918	C	T	ZFYVE26	c.3381G>A	NM_015346.4	NP_056161.2:p.(Val1127=)	NC_000014.8:g.68251918C>T	(Likely) benign	1 lab	95e0a857cb
5:178541225 ADAMTS2 A>G	5	178541225	178541225	A	G	ADAMTS2	c.3279T>C	NM_014244.5	NP_055059.2:p.(Cys1093=)	NC_000005.9:g.178541225A>G	(Likely) benign	1 lab	95e1b5babd
11:68204392 LRP5 G>A	11	68204392	68204392	G	A	LRP5	c.4036G>A	NM_002335.4	NP_002326.2:p.(Gly1346Ser)	NC_000011.9:g.68204392G>A	VUS	1 lab	95e4643d0c
2:48026432 MSH6 A>C	2	48026432	48026432	A	C	MSH6	c.1310A>C	NM_000179.3	NP_000170.1:p.(His437Pro)	NC_000002.11:g.48026432A>C	VUS	1 lab	95e54bbcc3
2:29238743 MISSING Ref too long to show for this DEL>C	2	29238743	29340107	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.29238748_29340107del	VUS	1 lab	95e68623dc
3:48619924 COL7A1 C>T	3	48619924	48619924	C	T	COL7A1	c.4586G>A	NM_000094.4	NP_000085.1:p.(Arg1529His)	NC_000003.11:g.48619924C>T	VUS	1 lab	95e7900383
17:10546203 MYH3 G>A	17	10546203	10546203	G	A	MYH3	c.1521C>T	NM_002470.4	NP_002461.2:p.(Ile507=)	NC_000017.10:g.10546203G>A	(Likely) benign	1 lab	95ea61e4b4
19:55285082 KIR2DL1 T>C	19	55285082	55285082	T	C	KIR2DL1	c.368T>C	NM_014218.3	NP_055033.2:p.(Ile123Thr)	NC_000019.9:g.55285082T>C	(Likely) benign	1 lab	95eb2399f8
6:32489758 HLA-DRB5 T>C	6	32489758	32489758	T	C	HLA-DRB5	c.294A>G	NM_002125.4	NP_002116.2:p.(Glu98=)	NC_000006.11:g.32489758T>C	(Likely) benign	1 lab	95eef7a23a
16:920140 LMF1 G>A	16	920140	920140	G	A	LMF1	c.1233-74C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.920140G>A	(Likely) benign	1 lab	96775bbeff
X:70443953 GJB1 G>A	X	70443953	70443953	G	A	GJB1	c.396G>A	NM_000166.6	NP_000157.1:p.(Trp132Ter)	NC_000023.10:g.70443953G>A	(Likely) pathogenic	1 lab	95f397118c
3:38604172 SCN5A G>A	3	38604172	38604172	G	A	SCN5A	c.3841-144C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38604172G>A	(Likely) benign	1 lab	95f47f8447
11:108168019 ATM C>T	11	108168019	108168019	C	T	ATM	c.4915C>T	NM_000051.4	NP_000042.3:p.(Pro1639Ser)	NC_000011.9:g.108168019C>T	VUS	1 lab	95f7523113
12:113427462 OAS2 Ref too long to show for this DEL>T	12	113427462	113437624	Ref too long to show for this DEL	T	OAS2	c.448+2350_1008+1409del	NM_002535.3	NP_002526.2:p.?	NC_000012.11:g.113427463_113437624del	VUS	1 lab	95f7a2603e
15:45408924 DUOXA2 T>A	15	45408924	45408924	T	A	DUOXA2	c.551T>A	NM_207581.4	NP_997464.2:p.(Leu184Gln)	NC_000015.9:g.45408924T>A	VUS	1 lab	95f9581eb8
2:183564402 MISSING G>Alt too long to show for this DUP	2	183564402	183813980	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.183564403_183813980dup	VUS	1 lab	95fadb8851
5:110384199 MISSING Ref too long to show for this DEL>T	5	110384199	110427052	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.110384200_110427052del	VUS	1 lab	95fbb1fcf7
11:47359466 MYBPC3 A>C	11	47359466	47359466	A	C	MYBPC3	c.2309-121T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359466A>C	(Likely) benign	1 lab	95ff874641
7:154237613 DPP6 A>G	7	154237613	154237613	A	G	DPP6	c.458-4A>G	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154237613A>G	(Likely) benign	1 lab	96078c6be0
2:179585377 TTN G>A	2	179585377	179585377	G	A	TTN	c.23112C>T	NM_001267550.2	NP_001254479.2:p.(Phe7704=)	NC_000002.11:g.179585377G>A	(Likely) benign	1 lab	9608676131
19:11224257 LDLR A>T	19	11224257	11224257	A	T	LDLR	c.1405A>T	NM_000527.5	NP_000518.1:p.(Ile469Phe)	NC_000019.9:g.11224257A>T	VUS	1 lab	9611068e3c
17:44417025 ARL17B G>A	17	44417025	44417025	G	A	ARL17B	c.375C>T	NM_001039083.5	NP_001034172.3:p.(Leu125=)	NC_000017.10:g.44417025G>A	(Likely) benign	1 lab	961191bd4b
8:145584370 SLC52A2 C>T	8	145584370	145584370	C	T	SLC52A2	c.1122C>T	NM_024531.5	NP_078807.1:p.(Leu374=)	NC_000008.10:g.145584370C>T	(Likely) benign	1 lab	9611bdbe8b
1:17346181 MISSING Ref too long to show for this DEL>T	1	17346181	17399572	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.17346182_17399572del	(Likely) pathogenic	1 lab	961d18a5ba
7:5352635 TNRC18 TGAG>T	7	5352635	5352664	TGAG	T	TNRC18	c.7884_7886del	NM_001080495.3	NP_001073964.2:p.(Ser2671del)	NC_000007.13:g.5352662_5352664del	(Likely) benign	1 lab	9622dd52d8
5:32739028 NPR3 G>A	5	32739028	32739028	G	A	NPR3	c.951G>A	NM_001204375.2	NP_001191304.1:p.(Ser317=)	NC_000005.9:g.32739028G>A	(Likely) benign	1 lab	962494eb82
16:15814001 MYH11 C>A	16	15814001	15814001	C	A	MYH11	c.4974+7G>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15814001C>A	(Likely) benign	1 lab	9624dd3f7d
5:149313488 PDE6A C>T	5	149313488	149313488	C	T	PDE6A	c.717+5G>A	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149313488C>T	VUS	1 lab	962609a7cd
12:116424219 MED13L G>A	12	116424219	116424219	G	A	MED13L	c.4190C>T	NM_015335.5	NP_056150.1:p.(Ser1397Leu)	NC_000012.11:g.116424219G>A	VUS	1 lab	9627640411
2:179580493 TTN T>C	2	179580493	179580493	T	C	TTN	c.25648A>G	NM_001267550.2	NP_001254479.2:p.(Arg8550Gly)	NC_000002.11:g.179580493T>C	VUS	1 lab	9627e496da
2:241661934 KIF1A G>A	2	241661934	241661934	G	A	KIF1A	c.4301C>T	NM_004321.8	NP_004312.2:p.(Ala1434Val)	NC_000002.11:g.241661934G>A	(Likely) benign	1 lab	96287a3ac0
6:31239616 HLA-C C>A	6	31239616	31239616	C	A	HLA-C	c.103G>T	NM_002117.6	NP_002108.4:p.(Ala35Ser)	NC_000006.11:g.31239616C>A	(Likely) benign	1 lab	962a02fb5d
15:35275078 ZNF770 C>T	15	35275078	35275078	C	T	ZNF770	c.558G>A	NM_014106.4	NP_054825.2:p.(Arg186=)	NC_000015.9:g.35275078C>T	(Likely) benign	1 lab	962cad6cec
3:41275110 CTNNB1 A>T	3	41275110	41275110	A	T	CTNNB1	c.1276A>T	NM_001904.4	NP_001895.1:p.(Asn426Tyr)	NC_000003.11:g.41275110A>T	(Likely) pathogenic	1 lab	962cb4db19
6:32551995 HLA-DRB1 A>C	6	32551995	32551995	A	C	HLA-DRB1	c.261T>G	NM_002124.4	NP_002115.2:p.(Ala87=)	NC_000006.11:g.32551995A>C	(Likely) benign	1 lab	962ed6cbfa
18:14779986 ANKRD30B G>A	18	14779986	14779986	G	A	ANKRD30B	c.1448G>A	NM_001367607.1	NP_001354536.1:p.(Arg483Gln)	NC_000018.9:g.14779986G>A	(Likely) benign	1 lab	962eea544a
9:86585650 HNRNPK A>G	9	86585650	86585650	A	G	HNRNPK	c.1191+2T>C	NM_002140.5	NP_002131.2:p.?	NC_000009.11:g.86585650A>G	(Likely) pathogenic	1 lab	962fa3dce9
6:56484804 DST G>A	6	56484804	56484804	G	A	DST	c.4028C>T	NM_001723.7	NP_001714.1:p.(Ala1343Val)	NC_000006.11:g.56484804G>A	VUS	1 lab	9631380e35
11:116530961 MISSING Ref too long to show for this DEL>A	11	116530961	116539105	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.116530963_116539105del	VUS	1 lab	9631514905
5:95767810 PCSK1 T>C	5	95767810	95767810	T	C	PCSK1	c.16A>G	NM_001177875.2	NP_001171346.1:p.(Ile6Val)	NC_000005.9:g.95767810T>C	(Likely) benign	1 lab	9636dd038b
12:117914325 KSR2 G>A	12	117914325	117914325	G	A	KSR2	c.2526C>T	NM_173598.6	NP_775869.4:p.(Pro842=)	NC_000012.11:g.117914325G>A	(Likely) benign	1 lab	9637050fbe
9:107589432 ABCA1 A>G	9	107589432	107589432	A	G	ABCA1	c.2134T>C	NM_005502.4	NP_005493.2:p.(Tyr712His)	NC_000009.11:g.107589432A>G	VUS	1 lab	963a555d46
4:15601198 CC2D2A C>A	4	15601198	15601198	C	A	CC2D2A	c.4543C>A	NM_001080522.2	NP_001073991.2:p.(His1515Asn)	NC_000004.11:g.15601198C>A	VUS	1 lab	963a77749a
1:6529605 PLEKHG5 A>G	1	6529605	6529605	A	G	PLEKHG5	c.1932T>C	NM_198681.4	NP_941374.3:p.(Pro644=)	NC_000001.10:g.6529605A>G	(Likely) benign	1 lab	963cc76303
3:38640472 SCN5A C>T	3	38640472	38640472	C	T	SCN5A	c.1960G>A	NM_198056.3	NP_932173.1:p.(Glu654Lys)	NC_000003.11:g.38640472C>T	VUS	1 lab	963cd6d7f6
1:11082347 TARDBP G>T	1	11082347	11082347	G	T	TARDBP	c.881G>T	NM_007375.4	NP_031401.1:p.(Gly294Val)	NC_000001.10:g.11082347G>T	(Likely) pathogenic	1 lab	963db97a4e
X:118603881 SLC25A5 A>T	X	118603881	118603881	A	T	SLC25A5	c.369A>T	NM_001152.5	NP_001143.2:p.(Ala123=)	NC_000023.10:g.118603881A>T	(Likely) benign	1 lab	963eace6ce
12:40653395 LRRK2 T>G	12	40653395	40653395	T	G	LRRK2	c.1532T>G	NM_198578.4	NP_940980.4:p.(Phe511Cys)	NC_000012.11:g.40653395T>G	(Likely) benign	1 lab	9640c875dd
7:138432304 ATP6V0A4 AG>A	7	138432304	138432309	AG	A	ATP6V0A4	c.1185del	NM_020632.3	NP_065683.2:p.(Tyr396ThrfsTer12)	NC_000007.13:g.138432309del	(Likely) pathogenic	1 lab	9640d89373
1:6528465 PLEKHG5 G>A	1	6528465	6528465	G	A	PLEKHG5	c.2638C>T	NM_001265593.1	NP_001252522.1:p.(Arg880Cys)	NC_000001.10:g.6528465G>A	(Likely) benign	1 lab	96410ff170
9:137593218 COL5A1 G>A	9	137593218	137593218	G	A	COL5A1	c.654+39G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593218G>A	(Likely) benign	1 lab	9641234ec0
X:85236820 CHM C>A	X	85236820	85236820	C	A	CHM	c.117-7G>T	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236820C>A	(Likely) benign	1 lab	96427e066d
8:1830835 ARHGEF10 C>T	8	1830835	1830835	C	T	ARHGEF10	c.995C>T	NM_014629.4	NP_055444.2:p.(Thr332Ile)	NC_000008.10:g.1830835C>T	(Likely) pathogenic	1 lab	9645317105
2:44051065 ABCG5 G>A	2	44051065	44051065	G	A	ABCG5	c.1311C>T	NM_022436.3	NP_071881.1:p.(Asn437=)	NC_000002.11:g.44051065G>A	(Likely) benign	1 lab	96493a5804
16:57006000 CETP G>A	16	57006000	57006000	G	A	CETP	c.750+5G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006000G>A	VUS	1 lab	964a3b6b81
X:53550806 MISSING G>Alt too long to show for this DUP	X	53550806	53627782	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.53550808_53627782dup	VUS	1 lab	964b362e13
4:15539554 CC2D2A A>G	4	15539554	15539554	A	G	CC2D2A	c.1797A>G	NM_001080522.2	NP_001073991.2:p.(Ala599=)	NC_000004.11:g.15539554A>G	(Likely) benign	1 lab	964b7e9072
2:21263849 APOB T>A	2	21263849	21263849	T	A	APOB	c.344A>T	NM_000384.3	NP_000375.3:p.(Lys115Ile)	NC_000002.11:g.21263849T>A	(Likely) benign	1 lab	964bf13a43
4:100530094 MTTP G>A	4	100530094	100530094	G	A	MTTP	c.1729G>A	NM_000253.4	NP_000244.2:p.(Ala577Thr)	NC_000004.11:g.100530094G>A	VUS	1 lab	964d03de58
11:116661517 APOA5 C>T	11	116661517	116661517	C	T	APOA5	c.428G>A	NM_052968.5	NP_443200.2:p.(Arg143His)	NC_000011.9:g.116661517C>T	VUS	1 lab	964e5c66c3
1:55518323 PCSK9 G>A	1	55518323	55518323	G	A	PCSK9	c.658G>A	NM_174936.4	NP_777596.2:p.(Ala220Thr)	NC_000001.10:g.55518323G>A	VUS	1 lab	964e8d4613
6:71011703 COL9A1 C>T	6	71011703	71011703	C	T	COL9A1	c.88+1G>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71011703C>T	(Likely) pathogenic	1 lab	964f8f5389
5:149459610 CSF1R C>T	5	149459610	149459610	C	T	CSF1R	c.592+5G>A	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149459610C>T	VUS	1 lab	964fba9ae8
2:163128824 IFIH1 T>C	2	163128824	163128824	T	C	IFIH1	c.2528A>G	NM_022168.4	NP_071451.2:p.(His843Arg)	NC_000002.11:g.163128824T>C	(Likely) benign	1 lab	9650773294
1:235797200 MISSING A>Alt too long to show for this DUP	1	235797200	236714153	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.235797202_236714153dup	VUS	1 lab	965395f005
9:98247984 PTCH1 A>G	9	98247984	98247984	A	G	PTCH1	c.567T>C	NM_000264.5	NP_000255.2:p.(His189=)	NC_000009.11:g.98247984A>G	(Likely) benign	1 lab	9656eb0160
2:44101007 ABCG8 C>T	2	44101007	44101007	C	T	ABCG8	c.1293C>T	NM_022437.3	NP_071882.1:p.(Ile431=)	NC_000002.11:g.44101007C>T	(Likely) benign	1 lab	965ab712c9
11:46726260 ZNF408 G>C	11	46726260	46726260	G	C	ZNF408	c.1010G>C	NM_024741.3	NP_079017.1:p.(Arg337Pro)	NC_000011.9:g.46726260G>C	(Likely) benign	1 lab	965b33890e
7:107302103 SLC26A4 G>T	7	107302103	107302103	G	T	SLC26A4	c.17G>T	NM_000441.2	NP_000432.1:p.(Gly6Val)	NC_000007.13:g.107302103G>T	(Likely) benign	1 lab	965cff3d49
1:92762964 GLMN ATTCTT>A	1	92762964	92762972	ATTCTT	A	GLMN	c.157_161del	NM_053274.3	NP_444504.1:p.(Lys53Ter)	NC_000001.10:g.92762968_92762972del	(Likely) pathogenic	1 lab	965d9d474d
19:11241562 LDLR C>T	19	11241562	11241562	C	T	LDLR	c.2548-395C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241562C>T	(Likely) benign	1 lab	965deb527c
8:133894854 TG C>T	8	133894854	133894854	C	T	TG	c.886C>T	NM_003235.5	NP_003226.4:p.(Arg296Ter)	NC_000008.10:g.133894854C>T	(Likely) pathogenic	1 lab	9660a0ab05
5:178113000 MISSING T>Alt too long to show for this DUP	5	178113000	178290202	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.178113003_178290202dup	VUS	1 lab	966189e510
14:90870730 CALM1 A>G	14	90870730	90870730	A	G	CALM1	c.296A>G	NM_001363670.2	NP_001350599.1:p.(Asn99Ser)	NC_000014.8:g.90870730A>G	(Likely) pathogenic	1 lab	9663c39753
19:8145921 FBN3 C>T	19	8145921	8145921	C	T	FBN3	c.7419G>A	NM_032447.5	NP_115823.3:p.(Pro2473=)	NC_000019.9:g.8145921C>T	(Likely) benign	1 lab	96661de543
6:7558511 DSP A>G	6	7558511	7558511	A	G	DSP	c.422+14A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558511A>G	(Likely) benign	1 lab	9666263935
19:1037869 CNN2 C>T	19	1037869	1037869	C	T	CNN2	c.900C>T	NM_004368.4	NP_004359.1:p.(Pro300=)	NC_000019.9:g.1037869C>T	(Likely) benign	1 lab	966ab094f7
3:33165932 CRTAP C>T	3	33165932	33165932	C	T	CRTAP	c.654C>T	NM_006371.5	NP_006362.1:p.(Asn218=)	NC_000003.11:g.33165932C>T	(Likely) benign	1 lab	966c45f755
6:7569444 DSP G>A	6	7569444	7569444	G	A	DSP	c.1445G>A	NM_004415.4	NP_004406.2:p.(Cys482Tyr)	NC_000006.11:g.7569444G>A	VUS	1 lab	966e5fa84c
2:25051044 ADCY3 C>T	2	25051044	25051044	C	T	ADCY3	c.2239-14G>A	NM_001377128.1	NP_001364057.1:p.?	NC_000002.11:g.25051044C>T	(Likely) benign	1 lab	966ed81c37
18:2750477 SMCHD1 A>G	18	2750477	2750477	A	G	SMCHD1	c.4137A>G	NM_015295.3	NP_056110.2:p.(Ala1379=)	NC_000018.9:g.2750477A>G	(Likely) benign	1 lab	966f085d24
5:149278085 PDE6A A>T	5	149278085	149278085	A	T	PDE6A	c.1264-16T>A	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149278085A>T	(Likely) benign	1 lab	967205cb2d
16:1020877 LMF1 C>T	16	1020877	1020877	C	T	LMF1	c.104G>A	NM_022773.4	NP_073610.2:p.(Arg35His)	NC_000016.9:g.1020877C>T	(Likely) benign	1 lab	9675e36e69
1:55509585 PCSK9 C>T	1	55509585	55509585	C	T	PCSK9	c.277C>T	NM_174936.4	NP_777596.2:p.(Arg93Cys)	NC_000001.10:g.55509585C>T	VUS	1 lab	9676028d5e
12:21377756 SLCO1B1 T>G	12	21377756	21377756	T	G	SLCO1B1	c.1848T>G	NM_006446.5	NP_006437.3:p.(Tyr616Ter)	NC_000012.11:g.21377756T>G	(Likely) benign	1 lab	96782925eb
2:202622501 ALS2 A>C	2	202622501	202622501	A	C	ALS2	c.1114-19T>G	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202622501A>C	(Likely) benign	1 lab	9678bb8900
3:53736797 CACNA1D G>A	3	53736797	53736797	G	A	CACNA1D	c.1350G>A	NM_000720.4	NP_000711.1:p.(Pro450=)	NC_000003.11:g.53736797G>A	(Likely) benign	1 lab	967d6f5bc6
16:1004059 LMF1 A>ACCCACCCCAAAC	16	1004059	1004061	A	ACCCACCCCAAAC	LMF1	c.-52+297_-52+298insGTTTGGGGTGGG	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004060_1004061insCCACCCCAAACC	(Likely) benign	1 lab	96811ccaeb
2:179440368 TTN G>A	2	179440368	179440368	G	A	TTN	c.70491C>T	NM_001267550.2	NP_001254479.2:p.(Thr23497=)	NC_000002.11:g.179440368G>A	(Likely) benign	1 lab	9681684403
16:1003966 LMF1 C>T	16	1003966	1003966	C	T	LMF1	c.-52+391G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003966C>T	(Likely) benign	1 lab	96846adce8
X:19383490 MAP3K15 Ref too long to show for this DEL>T	X	19383490	19414584	Ref too long to show for this DEL	T	MAP3K15	c.2067-1258_3567-2523del	NM_001001671.4	NP_001001671.3:p.?	NC_000023.10:g.19383491_19414584del	VUS	1 lab	9684ddc9ff
12:33030843 PKP2 G>A	12	33030843	33030843	G	A	PKP2	c.971C>T	NM_004572.4	NP_004563.2:p.(Ala324Val)	NC_000012.11:g.33030843G>A	VUS	1 lab	9684f7957f
5:7897191 MTRR C>T	5	7897191	7897191	C	T	MTRR	c.1783C>T	NM_002454.3	NP_002445.2:p.(His595Tyr)	NC_000005.9:g.7897191C>T	(Likely) benign	1 lab	9688cbb9fc
10:13322987 PHYH C>CG	10	13322987	13322988	C	CG	PHYH	c.651dup	NM_001037537.2	NP_001032626.1:p.(Val218ArgfsTer24)	NC_000010.10:g.13322988dup	(Likely) pathogenic	1 lab	96893ca490
2:50945213 MISSING Ref too long to show for this DEL>G	2	50945213	51370848	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.50945215_51370848del	(Likely) pathogenic	1 lab	968a6effc5
19:49686409 TRPM4 C>G	19	49686409	49686409	C	G	TRPM4	c.1683C>G	NM_017636.4	NP_060106.2:p.(Asp561Glu)	NC_000019.9:g.49686409C>G	VUS	1 lab	968ab1bcf7
10:52913066 PRKG1 G>C	10	52913066	52913066	G	C	PRKG1	c.409G>C	NM_001098512.3	NP_001091982.1:p.(Gly137Arg)	NC_000010.10:g.52913066G>C	VUS	1 lab	96b24d8688
15:58840562 LIPC G>A	15	58840562	58840562	G	A	LIPC	c.842G>A	NM_000236.3	NP_000227.2:p.(Arg281Gln)	NC_000015.9:g.58840562G>A	VUS	1 lab	968cf38ee5
10:71129381 HK1 G>A	10	71129381	71129381	G	A	HK1	c.839+1G>A	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71129381G>A	VUS	1 lab	968fccb9bc
2:188250301 CALCRL T>A	2	188250301	188250301	T	A	CALCRL	c.22=	NM_005795.6	NP_005786.1:p.(Tyr8=)	NC_000002.11:g.188250301T>A	(Likely) benign	1 lab	968fed5e93
16:84472822 ATP2C2 C>T	16	84472822	84472822	C	T	ATP2C2	c.1037C>T	NM_001286527.3	NP_001273456.2:p.(Thr346Met)	NC_000016.9:g.84472822C>T	VUS	1 lab	9692217129
16:88798332 PIEZO1 A>AGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAT	16	88798332	88798341	A	AGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAT	PIEZO1	c.2992-15_2992-14insATCCCCAGACTCAGTGCATCCCCACGCCCCGCCC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG	(Likely) benign	1 lab	969a14afbb
17:19448876 SLC47A1 T>Alt too long to show for this DUP	17	19448876	19475957	T	Alt too long to show for this DUP	SLC47A1	c.238-871_1405-136dup	NM_018242.3	NP_060712.2:p.?	NC_000017.10:g.19448877_19475957dup	VUS	1 lab	969bab5bd7
X:38164059 RPGR C>A	X	38164059	38164059	C	A	RPGR	c.779-16G>T	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38164059C>A	(Likely) benign	1 lab	969e10f19c
16:68862184 CDH1 G>C	16	68862184	68862184	G	C	CDH1	c.2272G>C	NM_004360.5	NP_004351.1:p.(Glu758Gln)	NC_000016.9:g.68862184G>C	VUS	1 lab	969f7e39bd
19:54649667 CNOT3 C>A	19	54649667	54649667	C	A	CNOT3	c.725C>A	NM_014516.4	NP_055331.1:p.(Ser242Tyr)	NC_000019.9:g.54649667C>A	VUS	1 lab	96a0dd1e81
2:219676948 CYP27A1 A>G	2	219676948	219676948	A	G	CYP27A1	c.450A>G	NM_000784.4	NP_000775.1:p.(Glu150=)	NC_000002.11:g.219676948A>G	(Likely) pathogenic	1 lab	96a3303d84
X:79955510 BRWD3 C>T	X	79955510	79955510	C	T	BRWD3	c.2889G>A	NM_153252.5	NP_694984.5:p.(Ser963=)	NC_000023.10:g.79955510C>T	(Likely) benign	1 lab	96a38ba703
4:100534224 MTTP C>T	4	100534224	100534224	C	T	MTTP	c.2144C>T	NM_000253.4	NP_000244.2:p.(Ser715Phe)	NC_000004.11:g.100534224C>T	VUS	1 lab	96a503a073
2:179554049 TTN C>T	2	179554049	179554049	C	T	TTN	c.31979G>A	NM_001267550.2	NP_001254479.2:p.(Arg10660Gln)	NC_000002.11:g.179554049C>T	VUS	1 lab	96a8132845
2:179554052 TTN G>A	2	179554052	179554052	G	A	TTN	c.31976C>T	NM_001267550.2	NP_001254479.2:p.(Pro10659Leu)	NC_000002.11:g.179554052G>A	VUS	1 lab	96a8149ec9
17:15134269 PMP22 C>A	17	15134269	15134269	C	A	PMP22	c.448G>T	NM_000304.4	NP_000295.1:p.(Gly150Cys)	NC_000017.10:g.15134269C>A	(Likely) pathogenic	1 lab	96a8ae9f5c
6:112476859 LAMA4 C>T	6	112476859	112476859	C	T	LAMA4	c.1846G>A	NM_002290.5	NP_002281.3:p.(Ala616Thr)	NC_000006.11:g.112476859C>T	VUS	1 lab	96a9fe697c
2:52406518 MISSING Ref too long to show for this DEL>G	2	52406518	54692201	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.52406520_54692201del	(Likely) pathogenic	1 lab	96ac9a0c3c
3:9483868 SETD5 A>G	3	9483868	9483868	A	G	SETD5	c.722A>G	NM_001292043.2	NP_001278972.1:p.(Asp241Gly)	NC_000003.11:g.9483868A>G	(Likely) pathogenic	1 lab	96ad5d591d
16:58573846 CNOT1 ATC>A	16	58573846	58573849	ATC	A	CNOT1	c.4801_4802del	NM_001265612.2	NP_001252541.1:p.(Asp1601Ter)	NC_000016.9:g.58573848_58573849del	(Likely) pathogenic	1 lab	96b00ebf78
1:161276217 MPZ G>C	1	161276217	161276217	G	C	MPZ	c.486C>G	NM_000530.8	NP_000521.2:p.(Ile162Met)	NC_000001.10:g.161276217G>C	(Likely) pathogenic	1 lab	96b31d2a05
6:76782191 IMPG1 A>G	6	76782191	76782191	A	G	IMPG1	c.15T>C	NM_001563.4	NP_001554.2:p.(Thr5=)	NC_000006.11:g.76782191A>G	(Likely) benign	1 lab	96cd82ca5a
11:95931627 MAML2 Ref too long to show for this DEL>T	11	95931627	95949578	Ref too long to show for this DEL	T	MAML2	c.514-122897_514-104947del	NM_032427.4	NP_115803.1:p.?	NC_000011.9:g.95931628_95949578del	VUS	1 lab	96b41e1b77
19:11348960 DOCK6 G>A	19	11348960	11348960	G	A	DOCK6	c.1664C>T	NM_020812.4	NP_065863.2:p.(Pro555Leu)	NC_000019.9:g.11348960G>A	(Likely) benign	1 lab	96b5b67678
2:179632756 TTN A>C	2	179632756	179632756	A	C	TTN	c.9290T>G	NM_001267550.2	NP_001254479.2:p.(Leu3097Arg)	NC_000002.11:g.179632756A>C	VUS	1 lab	96b66ff005
11:108119683 ATM C>T	11	108119683	108119683	C	T	ATM	c.1089C>T	NM_000051.4	NP_000042.3:p.(Ser363=)	NC_000011.9:g.108119683C>T	(Likely) benign	1 lab	96b68f41d3
9:107623944 ABCA1 G>A	9	107623944	107623944	G	A	ABCA1	c.543+16C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623944G>A	(Likely) benign	1 lab	96b7c1b741
12:122246140 SETD1B C>T	12	122246140	122246140	C	T	SETD1B	c.571C>T	NM_001353345.2	NP_001340274.1:p.(Leu191=)	NC_000012.11:g.122246140C>T	(Likely) benign	1 lab	96b80a579b
18:136224 MISSING A>Alt too long to show for this DUP	18	136224	505890	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.136226_505890dup	VUS	1 lab	96b89e6917
2:1481285 TPO G>T	2	1481285	1481285	G	T	TPO	c.1247G>T	NM_001206744.2	NP_001193673.1:p.(Arg416Leu)	NC_000002.11:g.1481285G>T	VUS	1 lab	96ba374ef2
3:62074 MISSING Ref too long to show for this DEL>T	3	62074	4191088	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.62075_4191088del	(Likely) pathogenic	1 lab	96bc46788c
11:121466390 SORL1 C>T	11	121466390	121466390	C	T	SORL1	c.4428C>T	NM_003105.6	NP_003096.2:p.(Phe1476=)	NC_000011.9:g.121466390C>T	(Likely) benign	1 lab	96c102abb8
16:75681520 KARS1 C>T	16	75681520	75681520	C	T	KARS1	c.18G>A	NM_005548.3	NP_005539.1:p.(Ala6=)	NC_000016.9:g.75681520C>T	(Likely) benign	1 lab	96c4ff4420
11:93844087 HEPHL1 G>A	11	93844087	93844087	G	A	HEPHL1	c.3064G>A	NM_001098672.2	NP_001092142.1:p.(Glu1022Lys)	NC_000011.9:g.93844087G>A	(Likely) benign	1 lab	96c9e2dbad
16:29567295 MISSING Ref too long to show for this DEL>A	16	29567295	30177999	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567296_30177999del	(Likely) pathogenic	1 lab	96ccc576e6
19:11215900 LDLR C>T	19	11215900	11215900	C	T	LDLR	c.318C>T	NM_000527.5	NP_000518.1:p.(Pro106=)	NC_000019.9:g.11215900C>T	(Likely) benign	1 lab	96ce042332
4:95733640 BMPR1B Ref too long to show for this DEL>C	4	95733640	95856495	Ref too long to show for this DEL	C	BMPR1B	c.-183+54426_-113+59444del	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.95733645_95856495del	VUS	1 lab	96cf6a88a5
19:11200263 LDLR C>CT	19	11200263	11200265	C	CT	LDLR	c.41dup	NM_000527.5	NP_000518.1:p.(Leu14PhefsTer38)	NC_000019.9:g.11200265dup	(Likely) pathogenic	1 lab	96cf7f84d2
2:29295583 PCARE T>C	2	29295583	29295583	T	C	PCARE	c.1545A>G	NM_001029883.3	NP_001025054.1:p.(Gln515=)	NC_000002.11:g.29295583T>C	(Likely) benign	1 lab	96d3935ad9
11:47366409 MYBPC3 C>T	11	47366409	47366409	C	T	MYBPC3	c.1091-1234G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366409C>T	(Likely) benign	1 lab	96db68357e
22:46763692 CELSR1 C>A	22	46763692	46763692	C	A	CELSR1	c.8013G>T	NM_001378328.1	NP_001365257.1:p.(Gly2671=)	NC_000022.10:g.46763692C>A	(Likely) benign	1 lab	96dc097079
15:48433327 SLC24A5 C>A	15	48433327	48433327	C	A	SLC24A5	c.1096C>A	NM_205850.3	NP_995322.1:p.(Pro366Thr)	NC_000015.9:g.48433327C>A	VUS	1 lab	96dcd5f2af
9:79825558 VPS13A A>G	9	79825558	79825558	A	G	VPS13A	c.522A>G	NM_033305.3	NP_150648.2:p.(Ser174=)	NC_000009.11:g.79825558A>G	(Likely) benign	1 lab	96dfbf4b9e
8:30938698 WRN G>A	8	30938698	30938698	G	A	WRN	c.1155G>A	NM_000553.6	NP_000544.2:p.(Glu385=)	NC_000008.10:g.30938698G>A	(Likely) benign	1 lab	96dfd42302
2:152534217 NEB G>A	2	152534217	152534217	G	A	NEB	c.3636C>T	NM_001271208.2	NP_001258137.2:p.(Asp1212=)	NC_000002.11:g.152534217G>A	(Likely) benign	1 lab	96e1aacf28
16:1020343 LMF1 A>G	16	1020343	1020343	A	G	LMF1	c.-362+10802T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020343A>G	(Likely) benign	1 lab	96e20d12fb
9:107603085 ABCA1 C>T	9	107603085	107603085	C	T	ABCA1	c.814-285G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107603085C>T	(Likely) benign	1 lab	96e5acfc27
12:30824037 IPO8 G>A	12	30824037	30824037	G	A	IPO8	c.910-7C>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30824037G>A	(Likely) benign	1 lab	96e72027c9
19:49189332 MISSING Ref too long to show for this DEL>A	19	49189332	49203498	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.49189334_49203498del	VUS	1 lab	96e7c16157
22:50897692 SBF1 C>T	22	50897692	50897692	C	T	SBF1	c.3818G>A	NM_002972.4	NP_002963.2:p.(Gly1273Asp)	NC_000022.10:g.50897692C>T	(Likely) benign	1 lab	96e9237c66
6:32025863 TNXB C>T	6	32025863	32025863	C	T	TNXB	c.7797G>A	NM_019105.8	NP_061978.6:p.(Leu2599=)	NC_000006.11:g.32025863C>T	(Likely) benign	1 lab	96ead3cb19
8:1905140 ARHGEF10 C>T	8	1905140	1905140	C	T	ARHGEF10	c.3746C>T	NM_014629.4	NP_055444.2:p.(Ser1249Leu)	NC_000008.10:g.1905140C>T	VUS	1 lab	96ee89f9dd
19:55320341 KIR2DL4 A>G	19	55320341	55320341	A	G	KIR2DL4	c.706+3A>G	NM_001080772.2	NP_001074241.1:p.?	NC_000019.9:g.55320341A>G	(Likely) benign	1 lab	96ef6b2c01
3:53766909 CACNA1D G>A	3	53766909	53766909	G	A	CACNA1D	c.2601G>A	NM_000720.4	NP_000711.1:p.(Arg867=)	NC_000003.11:g.53766909G>A	(Likely) benign	1 lab	96f2c67192
2:179440541 TTN G>A	2	179440541	179440541	G	A	TTN	c.70318C>T	NM_001267550.2	NP_001254479.2:p.(Leu23440Phe)	NC_000002.11:g.179440541G>A	VUS	1 lab	96f3566f16
17:59821769 BRIP1 G>A	17	59821769	59821769	G	A	BRIP1	c.2257+24C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59821769G>A	(Likely) benign	1 lab	96f3a5cadf
2:21228158 APOB G>T	2	21228158	21228158	G	T	APOB	c.11582C>A	NM_000384.3	NP_000375.3:p.(Thr3861Asn)	NC_000002.11:g.21228158G>T	VUS	1 lab	96f5b4c90a
7:143036416 CLCN1 G>A	7	143036416	143036416	G	A	CLCN1	c.1471+1G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143036416G>A	(Likely) pathogenic	1 lab	96f6518298
12:7241475 C1R C>G	12	7241475	7241475	C	G	C1R	c.918G>C	NM_001354346.2	NP_001341275.1:p.(Ser306=)	NC_000012.11:g.7241475C>G	(Likely) benign	1 lab	96fd7bc059
10:50833534 CHAT T>C	10	50833534	50833534	T	C	CHAT	c.522T>C	NM_001142933.2	NP_001136405.2:p.(Thr174=)	NC_000010.10:g.50833534T>C	(Likely) benign	1 lab	96fe8f0e5a
19:40903646 PRX C>G	19	40903646	40903646	C	G	PRX	c.613G>C	NM_181882.3	NP_870998.2:p.(Ala205Pro)	NC_000019.9:g.40903646C>G	VUS	1 lab	96ff2ca556
19:8176569 FBN3 G>A	19	8176569	8176569	G	A	FBN3	c.4047C>T	NM_032447.5	NP_115823.3:p.(Cys1349=)	NC_000019.9:g.8176569G>A	(Likely) benign	1 lab	9700059334
3:58092079 FLNB CTA>C	3	58092079	58092104	CTA	C	FLNB	c.1748-304_1748-303del	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58092103_58092104del	(Likely) benign	1 lab	9700b17ccc
X:9656194 TBL1X GGCT>G	X	9656194	9656199	GGCT	G	TBL1X	c.498_500del	NM_005647.4	NP_005638.1:p.(Ala168del)	NC_000023.10:g.9656197_9656199del	(Likely) benign	1 lab	9701038c1b
3:71026793 FOXP1 C>T	3	71026793	71026793	C	T	FOXP1	c.1428+1G>A	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71026793C>T	(Likely) pathogenic	1 lab	971cbc65ee
6:16141992 MYLIP A>G	6	16141992	16141992	A	G	MYLIP	c.415A>G	NM_013262.4	NP_037394.2:p.(Asn139Asp)	NC_000006.11:g.16141992A>G	VUS	1 lab	97041e0ec0
15:71548960 THSD4 A>G	15	71548960	71548960	A	G	THSD4	c.921A>G	NM_024817.2	NP_079093.2:p.(Pro307=)	NC_000015.9:g.71548960A>G	(Likely) benign	1 lab	9705216fad
3:41275738 CTNNB1 C>T	3	41275738	41275738	C	T	CTNNB1	c.1633C>T	NM_001904.4	NP_001895.1:p.(Gln545Ter)	NC_000003.11:g.41275738C>T	(Likely) pathogenic	1 lab	970867fd05
5:11082931 CTNND2 G>A	5	11082931	11082931	G	A	CTNND2	c.2665C>T	NM_001332.4	NP_001323.1:p.(Arg889Ter)	NC_000005.9:g.11082931G>A	VUS	1 lab	970db2f297
7:94050319 COL1A2 A>G	7	94050319	94050319	A	G	COL1A2	c.2296-2A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94050319A>G	(Likely) pathogenic	1 lab	9710018d8d
17:40693239 NAGLU T>G	17	40693239	40693239	T	G	NAGLU	c.1021+15T>G	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40693239T>G	(Likely) benign	1 lab	971009b0ee
12:6960315 MISSING G>Alt too long to show for this DUP	12	6960315	7044697	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.6960317_7044697dup	VUS	1 lab	98b3e17b8f
17:15142872 PMP22 A>G	17	15142872	15142872	A	G	PMP22	c.235T>C	NM_000304.4	NP_000295.1:p.(Ser79Pro)	NC_000017.10:g.15142872A>G	(Likely) pathogenic	1 lab	97127f7684
2:179659796 TTN G>C	2	179659796	179659796	G	C	TTN	c.1098C>G	NM_001267550.2	NP_001254479.2:p.(Thr366=)	NC_000002.11:g.179659796G>C	(Likely) benign	1 lab	9712ba8465
19:55317625 KIR2DL4 G>C	19	55317625	55317625	G	C	KIR2DL4	c.581G>C	NM_001080772.2	NP_001074241.1:p.(Arg194Thr)	NC_000019.9:g.55317625G>C	(Likely) benign	1 lab	9714161005
11:47359465 MYBPC3 A>C	11	47359465	47359465	A	C	MYBPC3	c.2309-120T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359465A>C	(Likely) benign	1 lab	97142329b4
2:238419238 MLPH G>A	2	238419238	238419238	G	A	MLPH	c.132G>A	NM_024101.7	NP_077006.1:p.(Lys44=)	NC_000002.11:g.238419238G>A	(Likely) benign	1 lab	971eff105f
6:32012325 TNXB G>A	6	32012325	32012325	G	A	TNXB	c.11090C>T	NM_019105.8	NP_061978.6:p.(Pro3697Leu)	NC_000006.11:g.32012325G>A	VUS	1 lab	9723a0d2dc
16:8905477 PMM2 T>A	16	8905477	8905477	T	A	PMM2	c.448-18T>A	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8905477T>A	VUS	1 lab	9726757ec8
1:25883715 LDLRAP1 A>G	1	25883715	25883715	A	G	LDLRAP1	c.416A>G	NM_015627.3	NP_056442.2:p.(Gln139Arg)	NC_000001.10:g.25883715A>G	VUS	1 lab	972b262a81
18:34340632 FHOD3 C>T	18	34340632	34340632	C	T	FHOD3	c.4511C>T	NM_001281740.3	NP_001268669.1:p.(Ala1504Val)	NC_000018.9:g.34340632C>T	VUS	1 lab	972b3d33da
16:15854611 MYH11 C>T	16	15854611	15854611	C	T	MYH11	c.1130-96G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15854611C>T	(Likely) benign	1 lab	972e6cae12
11:47365403 MYBPC3 C>G	11	47365403	47365403	C	G	MYBPC3	c.1091-228G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365403C>G	(Likely) benign	1 lab	9734bf4fde
17:41267761 BRCA1 C>A	17	41267761	41267761	C	A	BRCA1	c.116G>T	NM_007294.4	NP_009225.1:p.(Cys39Phe)	NC_000017.10:g.41267761C>A	(Likely) pathogenic	1 lab	973796d3ba
9:116053823 PRPF4 G>A	9	116053823	116053823	G	A	PRPF4	c.1452G>A	NM_004697.5	NP_004688.2:p.(Pro484=)	NC_000009.11:g.116053823G>A	(Likely) benign	1 lab	97396ad1b2
4:100518367 MTTP A>C	4	100518367	100518367	A	C	MTTP	c.1053A>C	NM_000253.4	NP_000244.2:p.(Glu351Asp)	NC_000004.11:g.100518367A>C	VUS	1 lab	973a34c638
2:189871865 COL3A1 A>C	2	189871865	189871865	A	C	COL3A1	c.3255+149A>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871865A>C	(Likely) benign	1 lab	973c3560b7
19:10114740 COL5A3 T>A	19	10114740	10114740	T	A	COL5A3	c.676A>T	NM_015719.4	NP_056534.2:p.(Asn226Tyr)	NC_000019.9:g.10114740T>A	(Likely) benign	1 lab	973ca0e69c
20:60740584 SS18L1 CTG>C	20	60740584	60740586	CTG	C	SS18L1	c.523+15_523+16del	NM_001301778.2	NP_001288707.1:p.?	NC_000020.10:g.60740585_60740586del	(Likely) benign	1 lab	97400d0065
10:112541820 RBM20 A>T	10	112541820	112541820	A	T	RBM20	c.1275+178A>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112541820A>T	(Likely) benign	1 lab	9741990fd4
16:88501933 ZNF469 T>C	16	88501933	88501933	T	C	ZNF469	c.8055T>C	NM_001367624.2	NP_001354553.1:p.(Pro2685=)	NC_000016.9:g.88501933T>C	(Likely) benign	1 lab	9741b88300
15:45443356 DUOX1 G>T	15	45443356	45443356	G	T	DUOX1	c.2924G>T	NM_017434.5	NP_059130.2:p.(Ser975Ile)	NC_000015.9:g.45443356G>T	(Likely) benign	1 lab	9742a9ae79
1:74716338 TNNI3K T>C	1	74716338	74716338	T	C	TNNI3K	c.236-18T>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74716338T>C	(Likely) benign	1 lab	974328932a
20:25371135 ABHD12 G>C	20	25371135	25371135	G	C	ABHD12	c.191+14C>G	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371135G>C	(Likely) benign	1 lab	974825fc7a
1:75185018 CRYZ C>T	1	75185018	75185018	C	T	CRYZ	c.303G>A	NM_001130042.2	NP_001123514.1:p.(Gly101=)	NC_000001.10:g.75185018C>T	(Likely) benign	1 lab	9748ab7fe2
16:76497636 MISSING G>Alt too long to show for this DUP	16	76497636	76994789	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.76497637_76994789dup	VUS	1 lab	974b9ceb41
3:24169208 THRB C>A	3	24169208	24169208	C	A	THRB	c.926G>T	NM_001354708.2	NP_001341637.1:p.(Cys309Phe)	NC_000003.11:g.24169208C>A	(Likely) pathogenic	1 lab	974c1bf035
X:39921666 BCOR C>T	X	39921666	39921666	C	T	BCOR	c.4072-20G>A	NM_017745.6	NP_060215.4:p.?	NC_000023.10:g.39921666C>T	(Likely) benign	1 lab	974fc2bae7
X:148688669 MISSING Ref too long to show for this DEL>G	X	148688669	148731894	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.148688670_148731894del	VUS	1 lab	97563d6fa4
8:133883811 TG G>A	8	133883811	133883811	G	A	TG	c.478+15G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133883811G>A	(Likely) benign	1 lab	975bb33743
17:66518923 PRKAR1A G>A	17	66518923	66518923	G	A	PRKAR1A	c.204G>A	NM_002734.5	NP_002725.1:p.(Leu68=)	NC_000017.10:g.66518923G>A	(Likely) benign	1 lab	975ee77684
22:26860199 HPS4 C>T	22	26860199	26860199	C	T	HPS4	c.1397G>A	NM_022081.6	NP_071364.4:p.(Arg466His)	NC_000022.10:g.26860199C>T	VUS	1 lab	975f5d1899
5:140056306 HARS1 T>C	5	140056306	140056306	T	C	HARS1	c.1127A>G	NM_002109.6	NP_002100.2:p.(Lys376Arg)	NC_000005.9:g.140056306T>C	(Likely) benign	1 lab	976182f102
5:147782045 FBXO38 A>G	5	147782045	147782045	A	G	FBXO38	c.561A>G	NM_030793.5	NP_110420.3:p.(Ile187Met)	NC_000005.9:g.147782045A>G	VUS	1 lab	9765185f8c
17:39274435 KRTAP4-11 A>T	17	39274435	39274435	A	T	KRTAP4-11	c.133T>A	NM_033059.4	NP_149048.2:p.(Cys45Ser)	NC_000017.10:g.39274435A>T	(Likely) benign	1 lab	97655d672e
2:241661321 KIF1A G>A	2	241661321	241661321	G	A	KIF1A	c.4666-20C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241661321G>A	(Likely) benign	1 lab	97658523fa
19:55147968 LILRB1 C>G	19	55147968	55147968	C	G	LILRB1	c.1671C>G	NM_006669.7	NP_006660.4:p.(Pro557=)	NC_000019.9:g.55147968C>G	(Likely) benign	1 lab	976cb34b43
17:41243003 BRCA1 G>C	17	41243003	41243003	G	C	BRCA1	c.4143C>G	NM_007294.4	NP_009225.1:p.(Asp1381Glu)	NC_000017.10:g.41243003G>C	(Likely) benign	1 lab	976d0b6cd7
2:179457755 TTN G>A	2	179457755	179457755	G	A	TTN	c.59091C>T	NM_001267550.2	NP_001254479.2:p.(Val19697=)	NC_000002.11:g.179457755G>A	(Likely) benign	1 lab	976d7e88fe
20:32340903 MISSING C>Alt too long to show for this DUP	20	32340903	33080438	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.32340908_33080438dup	(Likely) pathogenic	1 lab	976e22c734
14:88892996 SPATA7 A>G	14	88892996	88892996	A	G	SPATA7	c.793A>G	NM_018418.5	NP_060888.2:p.(Lys265Glu)	NC_000014.8:g.88892996A>G	VUS	1 lab	9772fe9740
7:104456022 MISSING A>Alt too long to show for this DUP	7	104456022	104575328	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.104456023_104575328dup	VUS	1 lab	9774dc45a1
1:43675497 CFAP57 C>T	1	43675497	43675497	C	T	CFAP57	c.1839C>T	NM_001195831.3	NP_001182760.2:p.(Thr613=)	NC_000001.10:g.43675497C>T	(Likely) benign	1 lab	97759855a6
2:44099582 ABCG8 G>A	2	44099582	44099582	G	A	ABCG8	c.1211+137G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099582G>A	(Likely) benign	1 lab	977c9b8a43
2:99013125 CNGA3 C>G	2	99013125	99013125	C	G	CNGA3	c.1492C>G	NM_001298.3	NP_001289.1:p.(Leu498Val)	NC_000002.11:g.99013125C>G	VUS	1 lab	977e133211
6:56422216 DST T>C	6	56422216	56422216	T	C	DST	c.8184A>G	NM_001144769.5	NP_001138241.1:p.(Gln2728=)	NC_000006.11:g.56422216T>C	(Likely) benign	1 lab	978022f211
1:236900597 ACTN2 G>GTATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATA	(Likely) benign	1 lab	9781282efb
20:41312487 PTPRT Ref too long to show for this DEL>T	20	41312487	41408637	Ref too long to show for this DEL	T	PTPRT	c.568+222_860-5689del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41312489_41408637del	VUS	1 lab	97846d9b05
7:117141950 CFTR Ref too long to show for this DEL>A	7	117141950	117147791	Ref too long to show for this DEL	A	CFTR	c.54-2355_165-1297del	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117141952_117147791del	VUS	1 lab	97879f100d
16:904649 LMF1 G>A	16	904649	904649	G	A	LMF1	c.1507C>T	NM_001352020.1	NP_001338949.1:p.(Arg503Cys)	NC_000016.9:g.904649G>A	VUS	1 lab	9787f9c9c0
3:46899912 MYL3 G>A	3	46899912	46899912	G	A	MYL3	c.521C>T	NM_000258.3	NP_000249.1:p.(Ala174Val)	NC_000003.11:g.46899912G>A	VUS	1 lab	97884511b3
9:140728837 EHMT1 G>A	9	140728837	140728837	G	A	EHMT1	c.3577G>A	NM_024757.5	NP_079033.4:p.(Gly1193Arg)	NC_000009.11:g.140728837G>A	(Likely) pathogenic	1 lab	9788b2f7a1
1:118664540 SPAG17 Ref too long to show for this DEL>A	1	118664540	118694664	Ref too long to show for this DEL	A	SPAG17	c.88-672_316-6477del	NM_206996.4	NP_996879.1:p.?	NC_000001.10:g.118664541_118694664del	VUS	1 lab	9788b63644
6:16130851 MYLIP G>A	6	16130851	16130851	G	A	MYLIP	c.151G>A	NM_013262.4	NP_037394.2:p.(Gly51Ser)	NC_000006.11:g.16130851G>A	(Likely) benign	1 lab	9789b7c0ff
20:5282731 PROKR2 G>A	20	5282731	5282731	G	A	PROKR2	c.1110C>T	NM_144773.4	NP_658986.1:p.(Asn370=)	NC_000020.10:g.5282731G>A	(Likely) benign	1 lab	978eddc051
10:71160750 HK1 C>T	10	71160750	71160750	C	T	HK1	c.2577C>T	NM_033500.2	NP_277035.2:p.(Phe859=)	NC_000010.10:g.71160750C>T	(Likely) benign	1 lab	97909350f2
10:126094143 OAT GAAAC>G	10	126094143	126094152	GAAAC	G	OAT	c.521-15_521-12del	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126094149_126094152del	(Likely) benign	1 lab	9791aca539
9:107583738 ABCA1 G>A	9	107583738	107583738	G	A	ABCA1	c.2878C>T	NM_005502.4	NP_005493.2:p.(Leu960=)	NC_000009.11:g.107583738G>A	(Likely) benign	1 lab	9791dcf343
2:61715766 XPO1 GTA>G	2	61715766	61715770	GTA	G	XPO1	c.2161_2162del	NM_003400.4	NP_003391.1:p.(Tyr721GlnfsTer5)	NC_000002.11:g.61715769_61715770del	(Likely) pathogenic	1 lab	97927ba018
16:919983 LMF1 T>C	16	919983	919983	T	C	LMF1	c.917A>G	NM_001352018.2	NP_001338947.1:p.(Tyr306Cys)	NC_000016.9:g.919983T>C	VUS	1 lab	9793673a6c
9:107589417 ABCA1 C>T	9	107589417	107589417	C	T	ABCA1	c.2149G>A	NM_005502.4	NP_005493.2:p.(Val717Met)	NC_000009.11:g.107589417C>T	VUS	1 lab	979721a80a
2:21238284 APOB C>G	2	21238284	21238284	C	G	APOB	c.3466G>C	NM_000384.3	NP_000375.3:p.(Ala1156Pro)	NC_000002.11:g.21238284C>G	VUS	1 lab	97976874af
7:21938962 DNAH11 ACCT>A	7	21938962	21938971	ACCT	A	DNAH11	c.13065_13067del	NM_001277115.2	NP_001264044.1:p.(Leu4356del)	NC_000007.13:g.21938969_21938971del	(Likely) pathogenic	1 lab	9797c49283
9:140164887 MISSING A>Alt too long to show for this DUP	9	140164887	140668688	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140164893_140668688dup	VUS	1 lab	9799e2f852
X:153490621 OPN1MW2 C>T	X	153490621	153490621	C	T	OPN1MW2	c.357C>T	NM_001048181.2	NP_001041646.1:p.(Phe119=)	NC_000023.10:g.153490621C>T	(Likely) benign	1 lab	979a35f223
15:40648397 PHGR1 G>C	15	40648397	40648397	G	C	PHGR1	c.142G>C	NM_001145643.2	NP_001139115.1:p.(Gly48Arg)	NC_000015.9:g.40648397G>C	(Likely) benign	1 lab	979b964c39
11:125875902 CDON C>T	11	125875902	125875902	C	T	CDON	c.1603G>A	NM_001243597.2	NP_001230526.1:p.(Ala535Thr)	NC_000011.9:g.125875902C>T	(Likely) benign	1 lab	979ba76d72
2:21228004 APOB G>T	2	21228004	21228004	G	T	APOB	c.11736C>A	NM_000384.3	NP_000375.3:p.(Val3912=)	NC_000002.11:g.21228004G>T	(Likely) benign	1 lab	97a21c1431
2:21231836 APOB T>G	2	21231836	21231836	T	G	APOB	c.7904A>C	NM_000384.3	NP_000375.3:p.(Asp2635Ala)	NC_000002.11:g.21231836T>G	VUS	1 lab	97a6c4935b
1:155657869 YY1AP1 G>A	1	155657869	155657869	G	A	YY1AP1	c.387C>T	NM_001198903.1	NP_001185832.1:p.(Leu129=)	NC_000001.10:g.155657869G>A	(Likely) benign	1 lab	97a8f343cc
5:127610646 FBN2 G>T	5	127610646	127610646	G	T	FBN2	c.7595-271C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127610646G>T	(Likely) benign	1 lab	97a9711cf2
3:38888477 SCN11A C>T	3	38888477	38888477	C	T	SCN11A	c.5084G>A	NM_014139.3	NP_054858.2:p.(Gly1695Asp)	NC_000003.11:g.38888477C>T	VUS	1 lab	97aa4034a6
15:28277220 OCA2 TG>T	15	28277220	28277221	TG	T	OCA2	c.316del	NM_000275.3	NP_000266.2:p.(Gln106ArgfsTer35)	NC_000015.9:g.28277221del	(Likely) pathogenic	1 lab	97aa7a454a
6:76660690 IMPG1 G>A	6	76660690	76660690	G	A	IMPG1	c.1413C>T	NM_001563.4	NP_001554.2:p.(Asp471=)	NC_000006.11:g.76660690G>A	(Likely) benign	1 lab	97b192ea22
1:236902339 ACTN2 G>GT	1	236902339	236902340	G	GT	ACTN2	c.877-262dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236902340dup	(Likely) benign	1 lab	97b819fa49
19:11222280 LDLR A>C	19	11222280	11222280	A	C	LDLR	c.1151A>C	NM_000527.5	NP_000518.1:p.(Gln384Pro)	NC_000019.9:g.11222280A>C	(Likely) pathogenic	1 lab	97b90b04de
7:128475147 FLNC A>C	7	128475147	128475147	A	C	FLNC	c.353-233A>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128475147A>C	(Likely) benign	1 lab	97bc029a39
1:55524339 PCSK9 CGTGT>C	1	55524339	55524391	CGTGT	C	PCSK9	c.1503+68_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524388_55524391del	(Likely) benign	1 lab	97bddc1d9a
12:32729341 FGD4 C>G	12	32729341	32729341	C	G	FGD4	c.50C>G	NM_139241.3	NP_640334.2:p.(Pro17Arg)	NC_000012.11:g.32729341C>G	VUS	1 lab	97beb9fc5b
4:128878706 MFSD8 C>T	4	128878706	128878706	C	T	MFSD8	c.104G>A	NM_152778.3	NP_689991.1:p.(Arg35Gln)	NC_000004.11:g.128878706C>T	VUS	1 lab	97c07f44c9
5:80074514 MSH3 A>G	5	80074514	80074514	A	G	MSH3	c.2319-25A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80074514A>G	(Likely) benign	1 lab	97c1d113fa
10:4884587 MISSING A>Alt too long to show for this DUP	10	4884587	5041729	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.4884589_5041729dup	VUS	1 lab	97c7f768e5
2:21247908 APOB C>T	2	21247908	21247908	C	T	APOB	c.2333G>A	NM_000384.3	NP_000375.3:p.(Arg778His)	NC_000002.11:g.21247908C>T	(Likely) benign	1 lab	97cc72707f
2:44059147 ABCG5 T>C	2	44059147	44059147	T	C	ABCG5	c.341A>G	NM_022436.3	NP_071881.1:p.(Tyr114Cys)	NC_000002.11:g.44059147T>C	(Likely) benign	1 lab	97cd8dc7a5
2:179580312 TTN T>C	2	179580312	179580312	T	C	TTN	c.25829A>G	NM_001267550.2	NP_001254479.2:p.(His8610Arg)	NC_000002.11:g.179580312T>C	VUS	1 lab	97cf20897c
5:178413224 GRM6 G>A	5	178413224	178413224	G	A	GRM6	c.2031C>T	NM_000843.4	NP_000834.2:p.(Arg677=)	NC_000005.9:g.178413224G>A	(Likely) benign	1 lab	97d06d4304
17:41223166 BRCA1 G>A	17	41223166	41223166	G	A	BRCA1	c.4765C>T	NM_007294.4	NP_009225.1:p.(Arg1589Cys)	NC_000017.10:g.41223166G>A	(Likely) benign	1 lab	97d2bf30a5
2:220502329 SLC4A3 G>A	2	220502329	220502329	G	A	SLC4A3	c.2643G>A	NM_201574.3	NP_963868.3:p.(Pro881=)	NC_000002.11:g.220502329G>A	(Likely) benign	1 lab	97d39019fd
2:234959601 SPP2 G>C	2	234959601	234959601	G	C	SPP2	c.86-14G>C	NM_006944.3	NP_008875.1:p.?	NC_000002.11:g.234959601G>C	(Likely) benign	1 lab	97d3fb175b
9:107581018 ABCA1 A>C	9	107581018	107581018	A	C	ABCA1	c.3388T>G	NM_005502.4	NP_005493.2:p.(Leu1130Val)	NC_000009.11:g.107581018A>C	VUS	1 lab	97d42a3915
2:21242744 APOB C>T	2	21242744	21242744	C	T	APOB	c.2850G>A	NM_000384.3	NP_000375.3:p.(Thr950=)	NC_000002.11:g.21242744C>T	(Likely) benign	1 lab	97d4e5b2e2
16:15835526 MYH11 G>A	16	15835526	15835526	G	A	MYH11	c.2674C>T	NM_001040113.2	NP_001035202.1:p.(Leu892=)	NC_000016.9:g.15835526G>A	(Likely) benign	1 lab	97d7123616
2:202611368 ALS2 C>T	2	202611368	202611368	C	T	ALS2	c.1919G>A	NM_020919.4	NP_065970.2:p.(Arg640Gln)	NC_000002.11:g.202611368C>T	(Likely) benign	1 lab	97da025ead
12:639906 MISSING G>Alt too long to show for this DUP	12	639906	866788	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.639909_866788dup	VUS	1 lab	97db925932
15:72103427 NR2E3 T>C	15	72103427	72103427	T	C	NR2E3	c.118+226T>C	NM_016346.4	NP_057430.1:p.?	NC_000015.9:g.72103427T>C	(Likely) benign	1 lab	97db94fcb2
10:69934000 MYPN G>A	10	69934000	69934000	G	A	MYPN	c.2151G>A	NM_032578.4	NP_115967.2:p.(Thr717=)	NC_000010.10:g.69934000G>A	(Likely) benign	1 lab	97dc74fdc4
2:21227323 APOB C>T	2	21227323	21227323	C	T	APOB	c.11905G>A	NM_000384.3	NP_000375.3:p.(Glu3969Lys)	NC_000002.11:g.21227323C>T	(Likely) benign	1 lab	97dd420998
11:6646958 DCHS1 C>T	11	6646958	6646958	C	T	DCHS1	c.6732G>A	NM_003737.4	NP_003728.1:p.(Arg2244=)	NC_000011.9:g.6646958C>T	(Likely) benign	1 lab	97de81b8e3
1:145401437 MISSING T>Alt too long to show for this DUP	1	145401437	145799603	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.145401439_145799603dup	(Likely) pathogenic	1 lab	97e4922fc2
2:179571694 TTN T>G	2	179571694	179571694	T	G	TTN	c.29042-13A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179571694T>G	(Likely) benign	1 lab	97e5190e9b
16:57951398 CNGB1 G>A	16	57951398	57951398	G	A	CNGB1	c.1958-18C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57951398G>A	(Likely) benign	1 lab	97fcd539b2
9:107595602 ABCA1 A>C	9	107595602	107595602	A	C	ABCA1	c.1312-550T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595602A>C	(Likely) benign	1 lab	97e9be35b0
2:219677013 CYP27A1 C>A	2	219677013	219677013	C	A	CYP27A1	c.515C>A	NM_000784.4	NP_000775.1:p.(Ala172Glu)	NC_000002.11:g.219677013C>A	(Likely) pathogenic	1 lab	97ee3af275
6:170871061 TBP G>A	6	170871061	170871061	G	A	TBP	c.237G>A	NM_003194.5	NP_003185.1:p.(Gln79=)	NC_000006.11:g.170871061G>A	(Likely) benign	1 lab	97eedad832
4:1629675 MISSING Ref too long to show for this DEL>C	4	1629675	2009467	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.1629676_2009467del	(Likely) pathogenic	1 lab	97f0712b14
2:44078970 ABCG8 C>A	2	44078970	44078970	C	A	ABCG8	c.561+9C>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44078970C>A	(Likely) benign	1 lab	97f696c257
4:100505010 MTTP A>G	4	100505010	100505010	A	G	MTTP	c.393+336A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100505010A>G	(Likely) benign	1 lab	97f6fdda15
10:126691631 CTBP2 T>A	10	126691631	126691631	T	A	CTBP2	c.1876A>T	NM_022802.3	NP_073713.2:p.(Thr626Ser)	NC_000010.10:g.126691631T>A	(Likely) benign	1 lab	97f9a55a50
14:23855654 MYH6 C>T	14	23855654	23855654	C	T	MYH6	c.4829G>A	NM_002471.4	NP_002462.2:p.(Arg1610His)	NC_000014.8:g.23855654C>T	VUS	1 lab	97fb6403f4
1:94543285 ABCA4 GATGTTAAAT>G	1	94543285	94543298	GATGTTAAAT	G	ABCA4	c.1506_1514del	NM_000350.3	NP_000341.2:p.(Phe503_Ile505del)	NC_000001.10:g.94543290_94543298del	VUS	1 lab	97fd1be5bc
12:21391944 SLCO1B1 A>G	12	21391944	21391944	A	G	SLCO1B1	c.1897A>G	NM_006446.5	NP_006437.3:p.(Arg633Gly)	NC_000012.11:g.21391944A>G	(Likely) benign	1 lab	97ff674961
4:114286357 ANK2 A>ATGTG	4	114286357	114286388	A	ATGTG	ANK2	c.11032+47_11032+50dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286385_114286388dup	(Likely) benign	1 lab	9804d66c08
12:32949095 PKP2 G>A	12	32949095	32949095	G	A	PKP2	c.2437C>T	NM_004572.4	NP_004563.2:p.(Leu813Phe)	NC_000012.11:g.32949095G>A	VUS	1 lab	9806ddd0ac
1:237905644 RYR2 T>G	1	237905644	237905644	T	G	RYR2	c.11140T>G	NM_001035.3	NP_001026.2:p.(Phe3714Val)	NC_000001.10:g.237905644T>G	VUS	1 lab	980b0ba9df
8:19796983 LPL T>C	8	19796983	19796983	T	C	LPL	c.32T>C	NM_000237.3	NP_000228.1:p.(Leu11Pro)	NC_000008.10:g.19796983T>C	VUS	1 lab	980ee88900
1:120612037 NOTCH2 TCCTCCGCCG>T	1	120612037	120612048	TCCTCCGCCG	T	NOTCH2	c.-26_-18del	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612040_120612048del	(Likely) benign	1 lab	980f14fb33
7:128475506 FLNC C>T	7	128475506	128475506	C	T	FLNC	c.479C>T	NM_001458.5	NP_001449.3:p.(Thr160Met)	NC_000007.13:g.128475506C>T	VUS	1 lab	980f8dc531
10:73550188 CDH23 C>G	10	73550188	73550188	C	G	CDH23	c.6049+18C>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73550188C>G	(Likely) benign	1 lab	98104ad90d
4:99811325 EIF4E T>Alt too long to show for this DUP	4	99811325	99819448	T	Alt too long to show for this DUP	EIF4E	c.125+3580_221+1062dup	NM_001968.5	NP_001959.1:p.?	NC_000004.11:g.99811327_99819448dup	VUS	1 lab	9810a9ac85
16:17211702 XYLT1 A>G	16	17211702	17211702	A	G	XYLT1	c.2358T>C	NM_022166.4	NP_071449.1:p.(Asp786=)	NC_000016.9:g.17211702A>G	(Likely) benign	1 lab	981183a14c
3:38627079 SCN5A A>G	3	38627079	38627079	A	G	SCN5A	c.2787+103T>C	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38627079A>G	(Likely) benign	1 lab	9811eea559
2:44058973 ABCG5 C>G	2	44058973	44058973	C	G	ABCG5	c.436G>C	NM_022436.3	NP_071881.1:p.(Glu146Gln)	NC_000002.11:g.44058973C>G	(Likely) pathogenic	1 lab	98127e0d87
11:47433500 SLC39A13 C>T	11	47433500	47433500	C	T	SLC39A13	c.325C>T	NM_001128225.3	NP_001121697.2:p.(Leu109=)	NC_000011.9:g.47433500C>T	(Likely) benign	1 lab	9813995f1d
2:21227980 APOB G>A	2	21227980	21227980	G	A	APOB	c.11760C>T	NM_000384.3	NP_000375.3:p.(Thr3920=)	NC_000002.11:g.21227980G>A	(Likely) benign	1 lab	9813eba251
11:47356221 MYBPC3 T>C	11	47356221	47356221	T	C	MYBPC3	c.2905+372A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356221T>C	(Likely) benign	1 lab	9816627c1f
13:114918294 MISSING Ref too long to show for this DEL>A	13	114918294	115107733	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.114918296_115107733del	(Likely) pathogenic	1 lab	9816f8bc57
15:58724216 LIPC C>T	15	58724216	58724216	C	T	LIPC	c.-16C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724216C>T	(Likely) benign	1 lab	981ab95b85
11:89774172 MISSING Ref too long to show for this DEL>A	11	89774172	89926919	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.89774173_89926919del	VUS	1 lab	981b54080e
11:46722632 ZNF408 A>G	11	46722632	46722632	A	G	ZNF408	c.35A>G	NM_024741.3	NP_079017.1:p.(Lys12Arg)	NC_000011.9:g.46722632A>G	(Likely) benign	1 lab	981c33fc54
17:57905430 MISSING Ref too long to show for this DEL>A	17	57905430	57930020	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.57905431_57930020del	VUS	1 lab	981df859f6
7:128470594 FLNC C>G	7	128470594	128470594	C	G	FLNC	c.-98C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128470594C>G	(Likely) benign	1 lab	98220805ff
12:21391903 SLCO1B1 A>G	12	21391903	21391903	A	G	SLCO1B1	c.1866-10A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21391903A>G	(Likely) benign	1 lab	98236e06d9
8:144297123 GPIHBP1 C>G	8	144297123	144297123	C	G	GPIHBP1	c.296-11C>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297123C>G	VUS	1 lab	98237663ca
13:32911147 BRCA2 CA>C	13	32911147	32911149	CA	C	BRCA2	c.2657del	NM_000059.4	NP_000050.3:p.(Asn886MetfsTer9)	NC_000013.10:g.32911149del	(Likely) pathogenic	1 lab	98238dd049
9:107607741 ABCA1 G>A	9	107607741	107607741	G	A	ABCA1	c.813+17C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107607741G>A	(Likely) benign	1 lab	984ee65d0f
10:21624048 MISSING C>Alt too long to show for this DUP	10	21624048	21680513	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.21624049_21680513dup	VUS	1 lab	9829e96b02
2:21241863 APOB C>T	2	21241863	21241863	C	T	APOB	c.3121+1G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241863C>T	(Likely) pathogenic	1 lab	982aab2c7d
2:108614379 SLC5A7 G>A	2	108614379	108614379	G	A	SLC5A7	c.534G>A	NM_021815.5	NP_068587.1:p.(Val178=)	NC_000002.11:g.108614379G>A	(Likely) benign	1 lab	98300e6b1a
9:87356851 NTRK2 C>T	9	87356851	87356851	C	T	NTRK2	c.1195+9C>T	NM_001369532.1	NP_001356461.1:p.?	NC_000009.11:g.87356851C>T	(Likely) benign	1 lab	983116fdd7
5:148406331 SH3TC2 G>A	5	148406331	148406331	G	A	SH3TC2	c.2873-16C>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148406331G>A	(Likely) benign	1 lab	983552998a
1:110134825 GNAI3 A>G	1	110134825	110134825	A	G	GNAI3	c.1035A>G	NM_006496.4	NP_006487.1:p.(Lys345=)	NC_000001.10:g.110134825A>G	(Likely) benign	1 lab	9836990fcf
22:50885775 SBF1 A>G	22	50885775	50885775	A	G	SBF1	c.5559T>C	NM_002972.4	NP_002963.2:p.(Thr1853=)	NC_000022.10:g.50885775A>G	(Likely) benign	1 lab	9836ae272c
7:138602603 KIAA1549 G>A	7	138602603	138602603	G	A	KIAA1549	c.1769C>T	NM_001164665.2	NP_001158137.1:p.(Thr590Met)	NC_000007.13:g.138602603G>A	(Likely) benign	1 lab	98371ea8b3
15:75693113 SIN3A G>GT	15	75693113	75693114	G	GT	SIN3A	c.1694dup	NM_015477.3	NP_056292.1:p.(Tyr565Ter)	NC_000015.9:g.75693114dup	(Likely) pathogenic	1 lab	98372474e7
6:75818737 COL12A1 G>A	6	75818737	75818737	G	A	COL12A1	c.8097C>T	NM_004370.6	NP_004361.3:p.(Ala2699=)	NC_000006.11:g.75818737G>A	(Likely) benign	1 lab	9839f3c421
1:1628812 MISSING G>Alt too long to show for this DUP	1	1628812	1675063	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.1628815_1675063dup	(Likely) benign	1 lab	983dd6c470
22:25007110 GGT1 G>A	22	25007110	25007110	G	A	GGT1	c.62G>A	NM_001288833.2	NP_001275762.1:p.(Gly21Asp)	NC_000022.10:g.25007110G>A	(Likely) benign	1 lab	983ed7a3bf
12:5154172 KCNA5 G>T	12	5154172	5154172	G	T	KCNA5	c.859G>T	NM_002234.4	NP_002225.2:p.(Ala287Ser)	NC_000012.11:g.5154172G>T	(Likely) benign	1 lab	983fe65a2a
1:55505585 PCSK9 C>T	1	55505585	55505585	C	T	PCSK9	c.75C>T	NM_174936.4	NP_777596.2:p.(Pro25=)	NC_000001.10:g.55505585C>T	(Likely) benign	1 lab	9840885cfd
7:7889023 MISSING Ref too long to show for this DEL>T	7	7889023	8064872	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.7889025_8064872del	VUS	1 lab	98441b140c
10:76768799 MISSING A>Alt too long to show for this DUP	10	76768799	76824656	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.76768800_76824656dup	VUS	1 lab	98443dd488
17:62045516 SCN4A G>A	17	62045516	62045516	G	A	SCN4A	c.903C>T	NM_000334.4	NP_000325.4:p.(Tyr301=)	NC_000017.10:g.62045516G>A	(Likely) benign	1 lab	9849691b56
14:23873933 MYH6 G>T	14	23873933	23873933	G	T	MYH6	c.629C>A	NM_002471.4	NP_002462.2:p.(Ala210Asp)	NC_000014.8:g.23873933G>T	VUS	1 lab	984de736a9
7:21779290 DNAH11 A>G	7	21779290	21779290	A	G	DNAH11	c.7913A>G	NM_001277115.2	NP_001264044.1:p.(Gln2638Arg)	NC_000007.13:g.21779290A>G	VUS	1 lab	984f9ee4df
19:7524887 ARHGEF18 G>A	19	7524887	7524887	G	A	ARHGEF18	c.1726+7G>A	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7524887G>A	(Likely) benign	1 lab	98500e423e
2:21266828 APOB G>C	2	21266828	21266828	G	C	APOB	c.-11C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266828G>C	(Likely) benign	1 lab	98536f0e05
15:44861670 SPG11 CGTT>C	15	44861670	44861675	CGTT	C	SPG11	c.6508_6510del	NM_025137.4	NP_079413.3:p.(Asn2170del)	NC_000015.9:g.44861673_44861675del	VUS	1 lab	98587ff4ca
3:52488028 TNNC1 C>T	3	52488028	52488028	C	T	TNNC1	c.4G>A	NM_003280.3	NP_003271.1:p.(Asp2Asn)	NC_000003.11:g.52488028C>T	VUS	1 lab	9858a9a4d7
11:88911261 TYR G>A	11	88911261	88911261	G	A	TYR	c.140G>A	NM_000372.5	NP_000363.1:p.(Gly47Asp)	NC_000011.9:g.88911261G>A	(Likely) pathogenic	1 lab	985974b68c
14:23896933 MYH7 G>A	14	23896933	23896933	G	A	MYH7	c.1749C>T	NM_000257.4	NP_000248.2:p.(Ala583=)	NC_000014.8:g.23896933G>A	(Likely) benign	1 lab	985d032992
1:206634446 MISSING TCAAA>T	1	206634446	206634452	TCAAA	T	MISSING				NC_000001.10:g.206634449_206634452del	VUS	1 lab	985d19c69f
8:1857498 ARHGEF10 T>G	8	1857498	1857498	T	G	ARHGEF10	c.2077T>G	NM_001308153.2	NP_001295082.1:p.(Tyr693Asp)	NC_000008.10:g.1857498T>G	VUS	1 lab	985f8207e9
2:179583551 TTN T>C	2	179583551	179583551	T	C	TTN	c.20644A>G	NM_133378.4	NP_596869.4:p.(Ile6882Val)	NC_000002.11:g.179583551T>C	VUS	1 lab	9870336e3b
9:140350923 MISSING Ref too long to show for this DEL>C	9	140350923	140994924	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.140350925_140994924del	(Likely) pathogenic	1 lab	98614f2736
10:88466277 LDB3 C>T	10	88466277	88466277	C	T	LDB3	c.1101-3385C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88466277C>T	(Likely) benign	1 lab	9862080713
11:86662631 FZD4 C>G	11	86662631	86662631	C	G	FZD4	c.1167G>C	NM_012193.4	NP_036325.2:p.(Gly389=)	NC_000011.9:g.86662631C>G	(Likely) benign	1 lab	98632e5f34
9:95477468 BICD2 A>G	9	95477468	95477468	A	G	BICD2	c.2536T>C	NM_001003800.2	NP_001003800.1:p.(Cys846Arg)	NC_000009.11:g.95477468A>G	(Likely) benign	1 lab	9864b1d917
11:93479404 MISSING Ref too long to show for this DEL>C	11	93479404	93499493	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.93479405_93499493del	VUS	1 lab	9866354ebd
15:85382313 ALPK3 C>T	15	85382313	85382313	C	T	ALPK3	c.407C>T	NM_020778.5	NP_065829.4:p.(Thr136Ile)	NC_000015.9:g.85382313C>T	(Likely) benign	1 lab	986689e341
2:48036403 FBXO11 TA>T	2	48036403	48036404	TA	T	FBXO11	c.2448del	NM_001190274.2	NP_001177203.1:p.(Asp816GlufsTer4)	NC_000002.11:g.48036404del	(Likely) pathogenic	1 lab	986a16486d
1:215940144 USH2A G>A	1	215940144	215940144	G	A	USH2A	c.10940-14C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215940144G>A	(Likely) benign	1 lab	986f6b9c29
2:179449110 TTN C>T	2	179449110	179449110	C	T	TTN	c.65168G>A	NM_001267550.2	NP_001254479.2:p.(Gly21723Asp)	NC_000002.11:g.179449110C>T	VUS	1 lab	986f7d813a
2:73717789 ALMS1 G>A	2	73717789	73717789	G	A	ALMS1	c.8706G>A	NM_015120.4	NP_055935.4:p.(Arg2902=)	NC_000002.11:g.73717789G>A	(Likely) benign	1 lab	987550a320
2:216237850 FN1 Ref too long to show for this DEL>A	2	216237850	216300363	Ref too long to show for this DEL	A	FN1	c.148+15_6247+194del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216237851_216300363del	VUS	1 lab	987681b8a7
8:117874165 RAD21 G>A	8	117874165	117874165	G	A	RAD21	c.289C>T	NM_006265.3	NP_006256.1:p.(Pro97Ser)	NC_000008.10:g.117874165G>A	VUS	1 lab	987ad40110
10:88476457 LDB3 C>A	10	88476457	88476457	C	A	LDB3	c.1620C>A	NM_001171610.2	NP_001165081.1:p.(Thr540=)	NC_000010.10:g.88476457C>A	(Likely) benign	1 lab	987bc4c3d6
8:24813032 NEFL A>G	8	24813032	24813032	A	G	NEFL	c.998T>C	NM_006158.5	NP_006149.2:p.(Leu333Pro)	NC_000008.10:g.24813032A>G	(Likely) pathogenic	1 lab	987bfbd33b
4:100530135 MTTP G>T	4	100530135	100530135	G	T	MTTP	c.1769+1G>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530135G>T	(Likely) pathogenic	1 lab	98830f2d57
19:45410273 APOE G>A	19	45410273	45410273	G	A	APOE	c.121+349G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45410273G>A	(Likely) benign	1 lab	9885325384
10:69970193 MYPN T>C	10	69970193	69970193	T	C	MYPN	c.3944T>C	NM_032578.4	NP_115967.2:p.(Val1315Ala)	NC_000010.10:g.69970193T>C	VUS	1 lab	98877d265a
9:130982546 DNM1 T>C	9	130982546	130982546	T	C	DNM1	c.775T>C	NM_001288738.2	NP_001275667.1:p.(Phe259Leu)	NC_000009.11:g.130982546T>C	VUS	1 lab	98889a0e8d
21:43619474 MISSING Ref too long to show for this DEL>A	21	43619474	43638669	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.43619475_43638669del	VUS	1 lab	9888ab23dc
7:624219 PRKAR1B A>AG	7	624219	624220	A	AG	PRKAR1B	c.709-15dup	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.624220dup	(Likely) benign	1 lab	98895fa0d3
8:24810423 NEFL CCTT>C	8	24810423	24810438	CCTT	C	NEFL	c.1529_1531del	NM_006158.5	NP_006149.2:p.(Glu510del)	NC_000008.10:g.24810436_24810438del	(Likely) benign	1 lab	988cf27dae
2:44101563 ABCG8 A>G	2	44101563	44101563	A	G	ABCG8	c.1429A>G	NM_022437.3	NP_071882.1:p.(Met477Val)	NC_000002.11:g.44101563A>G	VUS	1 lab	988efb5173
16:56995964 CETP G>A	16	56995964	56995964	G	A	CETP	c.73G>A	NM_000078.3	NP_000069.2:p.(Glu25Lys)	NC_000016.9:g.56995964G>A	(Likely) benign	1 lab	988f533af3
1:174987650 MRPS14 G>A	1	174987650	174987650	G	A	MRPS14	c.108C>T	NM_022100.3	NP_071383.1:p.(Arg36=)	NC_000001.10:g.174987650G>A	(Likely) benign	1 lab	9894022a08
19:7528750 ARHGEF18 C>T	19	7528750	7528750	C	T	ARHGEF18	c.2682C>T	NM_001367823.1	NP_001354752.1:p.(Asn894=)	NC_000019.9:g.7528750C>T	(Likely) benign	1 lab	9896f05cc5
2:220283751 DES G>A	2	220283751	220283751	G	A	DES	c.567G>A	NM_001927.4	NP_001918.3:p.(Arg189=)	NC_000002.11:g.220283751G>A	(Likely) benign	1 lab	9897071921
2:128397728 LIMS2 G>C	2	128397728	128397728	G	C	LIMS2	c.788-8C>G	NM_001161404.2	NP_001154876.1:p.?	NC_000002.11:g.128397728G>C	(Likely) benign	1 lab	98978d490a
5:138145705 CTNNA1 T>C	5	138145705	138145705	T	C	CTNNA1	c.302-22T>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138145705T>C	(Likely) benign	1 lab	98a0a2758b
6:160960872 LPA C>CT	6	160960872	160960873	C	CT	LPA	c.5735+202_5735+203insA	NM_005577.4	NP_005568.2:p.?	NC_000006.11:g.160960872_160960873insT	(Likely) benign	1 lab	98a23c5bf5
12:117922334 KSR2 G>C	12	117922334	117922334	G	C	KSR2	c.2337C>G	NM_173598.6	NP_775869.4:p.(Ala779=)	NC_000012.11:g.117922334G>C	(Likely) benign	1 lab	98a4387415
9:107647077 ABCA1 G>A	9	107647077	107647077	G	A	ABCA1	c.161-228C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647077G>A	(Likely) benign	1 lab	98a7b23b5c
3:101039234 IMPG2 G>T	3	101039234	101039234	G	T	IMPG2	c.-18C>A	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.101039234G>T	(Likely) benign	1 lab	98a8be5bd1
7:65426054 GUSB CAAAA>C	7	65426054	65426068	CAAAA	C	GUSB	c.1790-8_1790-5del	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426065_65426068del	(Likely) benign	1 lab	98a9c4fb1b
4:100530104 MTTP A>G	4	100530104	100530104	A	G	MTTP	c.1739A>G	NM_000253.4	NP_000244.2:p.(Gln580Arg)	NC_000004.11:g.100530104A>G	VUS	1 lab	98ab0586e7
7:70106567 AUTS2 Ref too long to show for this DEL>A	7	70106567	70224743	Ref too long to show for this DEL	A	AUTS2	c.691-56987_743-3113del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70106568_70224743del	(Likely) pathogenic	1 lab	98ae531b35
16:67977541 LCAT G>C	16	67977541	67977541	G	C	LCAT	c.154+310C>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977541G>C	(Likely) benign	1 lab	98b6d92c64
8:19810826 LPL G>A	8	19810826	19810826	G	A	LPL	c.435G>A	NM_000237.3	NP_000228.1:p.(Glu145=)	NC_000008.10:g.19810826G>A	(Likely) benign	1 lab	98b8fecf6d
6:21595295 SOX4 C>CG	6	21595295	21595301	C	CG	SOX4	c.536dup	NM_003107.3	NP_003098.1:p.(Gly180ArgfsTer33)	NC_000006.11:g.21595301dup	VUS	1 lab	98b921e557
2:44104782 ABCG8 T>C	2	44104782	44104782	T	C	ABCG8	c.1839T>C	NM_022437.3	NP_071882.1:p.(Tyr613=)	NC_000002.11:g.44104782T>C	(Likely) benign	1 lab	98b9416aeb
X:153120406 MISSING A>Alt too long to show for this DUP	X	153120406	153317849	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153120408_153317849dup	(Likely) pathogenic	1 lab	98ba8da588
1:5965372 NPHP4 T>C	1	5965372	5965372	T	C	NPHP4	c.1935A>G	NM_015102.5	NP_055917.1:p.(Leu645=)	NC_000001.10:g.5965372T>C	(Likely) benign	1 lab	98bbae6934
9:107571565 ABCA1 G>A	9	107571565	107571565	G	A	ABCA1	c.4274+182C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107571565G>A	(Likely) benign	1 lab	98bbf4612e
15:65942939 SLC24A1 G>A	15	65942939	65942939	G	A	SLC24A1	c.2452G>A	NM_004727.3	NP_004718.1:p.(Asp818Asn)	NC_000015.9:g.65942939G>A	VUS	1 lab	98bfa7ae66
11:125889673 CDON A>G	11	125889673	125889673	A	G	CDON	c.350-13T>C	NM_001243597.2	NP_001230526.1:p.?	NC_000011.9:g.125889673A>G	(Likely) benign	1 lab	98c0ac4976
12:21353535 SLCO1B1 C>T	12	21353535	21353535	C	T	SLCO1B1	c.1064C>T	NM_006446.5	NP_006437.3:p.(Ala355Val)	NC_000012.11:g.21353535C>T	(Likely) benign	1 lab	98c3db2818
8:133925346 TG G>A	8	133925346	133925346	G	A	TG	c.4214G>A	NM_003235.5	NP_003226.4:p.(Ser1405Asn)	NC_000008.10:g.133925346G>A	VUS	1 lab	98c4097d40
5:54529039 CCNO A>G	5	54529039	54529039	A	G	CCNO	c.313T>C	NM_021147.5	NP_066970.3:p.(Cys105Arg)	NC_000005.9:g.54529039A>G	VUS	1 lab	98c954d50b
12:125298763 SCARB1 G>A	12	125298763	125298763	G	A	SCARB1	c.615C>T	NM_005505.5	NP_005496.4:p.(Phe205=)	NC_000012.11:g.125298763G>A	(Likely) benign	1 lab	98ccd2fdca
9:107620908 ABCA1 T>C	9	107620908	107620908	T	C	ABCA1	c.615A>G	NM_005502.4	NP_005493.2:p.(Gln205=)	NC_000009.11:g.107620908T>C	(Likely) benign	1 lab	98cf04d59a
9:21334808 KLHL9 C>T	9	21334808	21334808	C	T	KLHL9	c.51G>A	NM_018847.4	NP_061335.1:p.(Gln17=)	NC_000009.11:g.21334808C>T	(Likely) benign	1 lab	98cf314d77
X:70443970 GJB1 G>A	X	70443970	70443970	G	A	GJB1	c.413G>A	NM_000166.6	NP_000157.1:p.(Ser138Asn)	NC_000023.10:g.70443970G>A	(Likely) pathogenic	1 lab	98cfbdb36d
11:65308804 LTBP3 C>A	11	65308804	65308804	C	A	LTBP3	c.2726-40G>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308804C>A	VUS	1 lab	98d22cca3b
9:135139889 SETX C>T	9	135139889	135139889	C	T	SETX	c.7771G>A	NM_015046.7	NP_055861.3:p.(Ala2591Thr)	NC_000009.11:g.135139889C>T	(Likely) benign	1 lab	98d2d756b5
16:57017336 CETP C>T	16	57017336	57017336	C	T	CETP	c.1407+13C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017336C>T	(Likely) benign	1 lab	98d798ba46
1:146399544 MISSING Ref too long to show for this DEL>T	1	146399544	147416220	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.146399549_147416220del	(Likely) pathogenic	1 lab	98da81c069
2:179482123 TTN C>G	2	179482123	179482123	C	G	TTN	c.47689G>C	NM_001267550.2	NP_001254479.2:p.(Glu15897Gln)	NC_000002.11:g.179482123C>G	VUS	1 lab	98dc84f244
8:90990518 NBN C>T	8	90990518	90990518	C	T	NBN	c.514G>A	NM_002485.5	NP_002476.2:p.(Val172Ile)	NC_000008.10:g.90990518C>T	(Likely) benign	1 lab	98e2fb5329
5:121406070 LOX T>C	5	121406070	121406070	T	C	LOX	c.1131+119A>G	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121406070T>C	(Likely) benign	1 lab	98e3377c5a
2:21228496 APOB C>G	2	21228496	21228496	C	G	APOB	c.11244G>C	NM_000384.3	NP_000375.3:p.(Thr3748=)	NC_000002.11:g.21228496C>G	(Likely) benign	1 lab	98e38fed37
6:9944364 MISSING Ref too long to show for this DEL>G	6	9944364	11180723	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.9944366_11180723del	(Likely) pathogenic	1 lab	98e9e2a63e
19:1620998 TCF3 A>G	19	1620998	1620998	A	G	TCF3	c.1062T>C	NM_003200.5	NP_003191.1:p.(Ser354=)	NC_000019.9:g.1620998A>G	(Likely) benign	1 lab	98eaceae13
15:58830529 LIPC C>T	15	58830529	58830529	C	T	LIPC	c.89-3C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58830529C>T	VUS	1 lab	98f01ff987
X:125686124 DCAF12L1 C>T	X	125686124	125686124	C	T	DCAF12L1	c.468G>A	NM_178470.5	NP_848565.2:p.(Glu156=)	NC_000023.10:g.125686124C>T	(Likely) benign	1 lab	98f0f1ad02
1:156105684 LMNA C>A	1	156105684	156105684	C	A	LMNA	c.937-8C>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105684C>A	(Likely) benign	1 lab	98f2446dd9
9:140712552 EHMT1 C>T	9	140712552	140712552	C	T	EHMT1	c.3502C>T	NM_024757.5	NP_079033.4:p.(Arg1168Ter)	NC_000009.11:g.140712552C>T	(Likely) pathogenic	1 lab	98f2e08b2f
18:25727760 CDH2 GAA>G	18	25727760	25727774	GAA	G	CDH2	c.61-14_61-13del	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25727773_25727774del	(Likely) benign	1 lab	98f411ec06
1:2161622 SKI G>A	1	2161622	2161622	G	A	SKI	c.969+448G>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2161622G>A	(Likely) benign	1 lab	98f7848888
2:239234554 TRAF3IP1 T>C	2	239234554	239234554	T	C	TRAF3IP1	c.297T>C	NM_015650.4	NP_056465.2:p.(His99=)	NC_000002.11:g.239234554T>C	(Likely) benign	1 lab	98fbacbfa6
9:35718915 TLN1 G>T	9	35718915	35718915	G	T	TLN1	c.1897-8C>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35718915G>T	(Likely) benign	1 lab	98fde9ec28
1:244217390 ZBTB18 A>G	1	244217390	244217390	A	G	ZBTB18	c.287A>G	NM_006352.4	NP_006343.2:p.(Asp96Gly)	NC_000001.10:g.244217390A>G	(Likely) pathogenic	1 lab	98ff17c1f4
X:152960530 SLC6A8 G>A	X	152960530	152960530	G	A	SLC6A8	c.1739G>A	NM_001142805.2	NP_001136277.1:p.(Arg580His)	NC_000023.10:g.152960530G>A	(Likely) benign	1 lab	9900fe079b
16:11862361 ZC3H7A C>A	16	11862361	11862361	C	A	ZC3H7A	c.1174-4G>T	NM_014153.4	NP_054872.2:p.?	NC_000016.9:g.11862361C>A	(Likely) benign	1 lab	9902466590
10:12131264 DHTKD1 G>C	10	12131264	12131264	G	C	DHTKD1	c.987+10G>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12131264G>C	(Likely) benign	1 lab	9903901bb2
17:5462215 NLRP1 T>A	17	5462215	5462215	T	A	NLRP1	c.1801A>T	NM_033004.4	NP_127497.1:p.(Ile601Phe)	NC_000017.10:g.5462215T>A	(Likely) benign	1 lab	99053485df
6:7542265 DSP G>T	6	7542265	7542265	G	T	DSP	c.117G>T	NM_004415.4	NP_004406.2:p.(Arg39Ser)	NC_000006.11:g.7542265G>T	VUS	1 lab	99074442ff
3:10101992 FANCD2 G>A	3	10101992	10101992	G	A	FANCD2	c.1671G>A	NM_033084.6	NP_149075.2:p.(Leu557=)	NC_000003.11:g.10101992G>A	(Likely) benign	1 lab	9907d373be
16:68857387 CDH1 T>C	16	68857387	68857387	T	C	CDH1	c.2022T>C	NM_004360.5	NP_004351.1:p.(Asn674=)	NC_000016.9:g.68857387T>C	(Likely) benign	1 lab	990815c7c1
2:98986497 CNGA3 C>T	2	98986497	98986497	C	T	CNGA3	c.59C>T	NM_001298.3	NP_001289.1:p.(Thr20Ile)	NC_000002.11:g.98986497C>T	(Likely) benign	1 lab	9908f4cee3
10:47087401 NPY4R A>C	10	47087401	47087401	A	C	NPY4R	c.618A>C	NM_001278794.2	NP_001265723.1:p.(Pro206=)	NC_000010.10:g.47087401A>C	(Likely) benign	1 lab	9909006513
17:37821671 TCAP C>T	17	37821671	37821671	C	T	TCAP	c.59C>T	NM_003673.4	NP_003664.1:p.(Ala20Val)	NC_000017.10:g.37821671C>T	VUS	1 lab	99b3bae0b1
2:44079606 ABCG8 G>A	2	44079606	44079606	G	A	ABCG8	c.675G>A	NM_022437.3	NP_071882.1:p.(Val225=)	NC_000002.11:g.44079606G>A	(Likely) benign	1 lab	990cc5efd3
18:34298157 FHOD3 G>A	18	34298157	34298157	G	A	FHOD3	c.2896G>A	NM_001281740.3	NP_001268669.1:p.(Glu966Lys)	NC_000018.9:g.34298157G>A	VUS	1 lab	9910ce9623
2:21234666 APOB C>T	2	21234666	21234666	C	T	APOB	c.5074G>A	NM_000384.3	NP_000375.3:p.(Glu1692Lys)	NC_000002.11:g.21234666C>T	VUS	1 lab	9910ea7463
9:95481800 BICD2 G>A	9	95481800	95481800	G	A	BICD2	c.1127C>T	NM_001003800.2	NP_001003800.1:p.(Thr376Met)	NC_000009.11:g.95481800G>A	(Likely) benign	1 lab	991569933e
1:55643674 USP24 T>C	1	55643674	55643674	T	C	USP24	c.456A>G	NM_015306.3	NP_056121.2:p.(Lys152=)	NC_000001.10:g.55643674T>C	(Likely) benign	1 lab	9917919db0
18:28650680 DSC2 C>A	18	28650680	28650680	C	A	DSC2	c.2250+12G>T	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28650680C>A	(Likely) benign	1 lab	9917f55246
15:63353137 TPM1 G>A	15	63353137	63353137	G	A	TPM1	c.562G>A	NM_001018004.2	NP_001018004.1:p.(Gly188Ser)	NC_000015.9:g.63353137G>A	VUS	1 lab	9918a9970b
2:44052416 ABCG5 C>T	2	44052416	44052416	C	T	ABCG5	c.775-259G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052416C>T	(Likely) benign	1 lab	991a7266d0
9:116050550 PRPF4 C>T	9	116050550	116050550	C	T	PRPF4	c.1025+6C>T	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116050550C>T	(Likely) benign	1 lab	991b16c8d3
4:185069917 ENPP6 T>Alt too long to show for this DUP	4	185069917	185125470	T	Alt too long to show for this DUP	ENPP6	c.241+13263_421+4789dup	NM_153343.4	NP_699174.1:p.?	NC_000004.11:g.185069919_185125470dup	VUS	1 lab	991c7bc931
17:41243899 BRCA1 A>AT	17	41243899	41243900	A	AT	BRCA1	c.3648dup	NM_007294.4	NP_009225.1:p.(Ser1217IlefsTer2)	NC_000017.10:g.41243900dup	(Likely) pathogenic	1 lab	991d385816
8:144296874 GPIHBP1 C>T	8	144296874	144296874	C	T	GPIHBP1	c.182-14C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296874C>T	(Likely) benign	1 lab	991f330982
16:3658544 SLX4 C>A	16	3658544	3658544	C	A	SLX4	c.422G>T	NM_032444.4	NP_115820.2:p.(Gly141Val)	NC_000016.9:g.3658544C>A	(Likely) benign	1 lab	992164bdef
11:118948207 VPS11 G>A	11	118948207	118948207	G	A	VPS11	c.1396-4G>A	NM_001290185.2	NP_001277114.1:p.?	NC_000011.9:g.118948207G>A	(Likely) benign	1 lab	992277dcad
3:33183879 CRTAP T>C	3	33183879	33183879	T	C	CRTAP	c.1153-8T>C	NM_006371.5	NP_006362.1:p.?	NC_000003.11:g.33183879T>C	(Likely) benign	1 lab	992309ac40
2:198962240 MISSING Ref too long to show for this DEL>C	2	198962240	199327936	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.198962242_199327936del	VUS	1 lab	9924ef1bef
18:53018104 TCF4 C>T	18	53018104	53018104	C	T	TCF4	c.499+1G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53018104C>T	(Likely) pathogenic	1 lab	9925e8379f
15:85402608 ALPK3 G>A	15	85402608	85402608	G	A	ALPK3	c.3952G>A	NM_020778.5	NP_065829.4:p.(Glu1318Lys)	NC_000015.9:g.85402608G>A	VUS	1 lab	992c029a1a
3:38623023 SCN5A C>G	3	38623023	38623023	C	G	SCN5A	c.2788-161G>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38623023C>G	(Likely) benign	1 lab	992d6edcb2
19:11224019 LDLR G>A	19	11224019	11224019	G	A	LDLR	c.1252G>A	NM_000527.5	NP_000518.1:p.(Glu418Lys)	NC_000019.9:g.11224019G>A	(Likely) pathogenic	1 lab	992e239c4d
15:72038873 THSD4 A>G	15	72038873	72038873	A	G	THSD4	c.2037-304A>G	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72038873A>G	(Likely) benign	1 lab	9932e1991b
7:91682139 AKAP9 A>T	7	91682139	91682139	A	T	AKAP9	c.5468A>T	NM_005751.5	NP_005742.4:p.(Gln1823Leu)	NC_000007.13:g.91682139A>T	VUS	1 lab	9933e3bf26
19:11218139 LDLR A>C	19	11218139	11218139	A	C	LDLR	c.889A>C	NM_000527.5	NP_000518.1:p.(Asn297His)	NC_000019.9:g.11218139A>C	(Likely) pathogenic	1 lab	99347b624a
5:127624882 FBN2 C>T	5	127624882	127624882	C	T	FBN2	c.6574G>A	NM_001999.4	NP_001990.2:p.(Gly2192Arg)	NC_000005.9:g.127624882C>T	VUS	1 lab	99353ed886
7:72402976 MISSING Ref too long to show for this DEL>G	7	72402976	74209678	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72402979_74209678del	(Likely) pathogenic	1 lab	993967f1f8
2:21233851 APOB A>G	2	21233851	21233851	A	G	APOB	c.5889T>C	NM_000384.3	NP_000375.3:p.(Ala1963=)	NC_000002.11:g.21233851A>G	(Likely) benign	1 lab	9939d58eda
11:116701353 APOC3 C>G	11	116701353	116701353	C	G	APOC3	c.55C>G	NM_000040.3	NP_000031.1:p.(Arg19Gly)	NC_000011.9:g.116701353C>G	VUS	1 lab	993bd4e009
22:50962208 NCAPH2 T>G	22	50962208	50962208	T	G	NCAPH2	c.*404T>G	NM_001185011.2	NP_001171940.1:p.?	NC_000022.10:g.50962208T>G	(Likely) benign	1 lab	993f6dbccd
11:66297437 BBS1 T>TGAG	11	66297437	66297441	T	TGAG	BBS1	c.1473+16_1473+18dup	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66297439_66297441dup	(Likely) benign	1 lab	9946904240
12:32797530 FGD4 A>G	12	32797530	32797530	A	G	FGD4	c.2635A>G	NM_001384126.1	NP_001371055.1:p.(Arg879Gly)	NC_000012.11:g.32797530A>G	(Likely) benign	1 lab	9949b1551e
2:220505690 SLC4A3 G>A	2	220505690	220505690	G	A	SLC4A3	c.3702+6G>A	NM_201574.3	NP_963868.3:p.?	NC_000002.11:g.220505690G>A	(Likely) benign	1 lab	994c10058e
1:55509542 PCSK9 C>T	1	55509542	55509542	C	T	PCSK9	c.234C>T	NM_174936.4	NP_777596.2:p.(Tyr78=)	NC_000001.10:g.55509542C>T	(Likely) benign	1 lab	994da10d1c
2:21235441 APOB C>T	2	21235441	21235441	C	T	APOB	c.4299G>A	NM_000384.3	NP_000375.3:p.(Ser1433=)	NC_000002.11:g.21235441C>T	(Likely) benign	1 lab	99517f8b88
11:47370371 MYBPC3 G>A	11	47370371	47370371	G	A	MYBPC3	c.655-279C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370371G>A	(Likely) benign	1 lab	9956a9f82c
12:33021897 PKP2 C>T	12	33021897	33021897	C	T	PKP2	c.1134G>A	NM_004572.4	NP_004563.2:p.(Gln378=)	NC_000012.11:g.33021897C>T	(Likely) benign	1 lab	99581f48ed
X:55084201 MISSING Ref too long to show for this DEL>T	X	55084201	55101078	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.55084202_55101078del	VUS	1 lab	9958cfd261
16:56995960 CETP G>A	16	56995960	56995960	G	A	CETP	c.69G>A	NM_000078.3	NP_000069.2:p.(Ser23=)	NC_000016.9:g.56995960G>A	(Likely) benign	1 lab	995ba26b4a
1:156846191 NTRK1 G>T	1	156846191	156846191	G	T	NTRK1	c.1633-1G>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156846191G>T	(Likely) pathogenic	1 lab	995f4c2c2d
7:91694701 AKAP9 A>G	7	91694701	91694701	A	G	AKAP9	c.6134A>G	NM_005751.5	NP_005742.4:p.(Asn2045Ser)	NC_000007.13:g.91694701A>G	(Likely) benign	1 lab	995fa2f7eb
2:27440760 CAD T>G	2	27440760	27440760	T	G	CAD	c.98T>G	NM_004341.5	NP_004332.2:p.(Met33Arg)	NC_000002.11:g.27440760T>G	(Likely) pathogenic	1 lab	9961d47ced
3:38592848 SCN5A G>A	3	38592848	38592848	G	A	SCN5A	c.5015C>T	NM_198056.3	NP_932173.1:p.(Ser1672Phe)	NC_000003.11:g.38592848G>A	(Likely) pathogenic	1 lab	9961eda105
7:128495095 FLNC G>T	7	128495095	128495095	G	T	FLNC	c.7135+129G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128495095G>T	(Likely) benign	1 lab	99628cc9e4
7:90568742 CDK14 Ref too long to show for this DEL>T	7	90568742	90697474	Ref too long to show for this DEL	T	CDK14	c.827-16269_1106-11273del	NM_001287135.2	NP_001274064.1:p.?	NC_000007.13:g.90568743_90697474del	VUS	1 lab	99630e4cde
2:152473986 NEB CAAAA>C	2	152473986	152474002	CAAAA	C	NEB	c.11077-8_11077-5del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152473999_152474002del	(Likely) benign	1 lab	9963e5bdc6
22:50898026 SBF1 G>A	22	50898026	50898026	G	A	SBF1	c.3561C>T	NM_002972.4	NP_002963.2:p.(Tyr1187=)	NC_000022.10:g.50898026G>A	(Likely) benign	1 lab	99673b3608
21:45752959 CFAP410 G>C	21	45752959	45752959	G	C	CFAP410	c.330C>G	NM_001271441.2	NP_001258370.1:p.(Thr110=)	NC_000021.8:g.45752959G>C	(Likely) benign	1 lab	996afb699b
2:44064984 ABCG5 AG>A	2	44064984	44064986	AG	A	ABCG5	c.253del	NM_022436.3	NP_071881.1:p.(Leu85Ter)	NC_000002.11:g.44064986del	(Likely) pathogenic	1 lab	996b515c30
6:32011344 TNXB G>A	6	32011344	32011344	G	A	TNXB	c.11525-11C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011344G>A	(Likely) benign	1 lab	99702e5538
18:10741011 PIEZO2 G>A	18	10741011	10741011	G	A	PIEZO2	c.4633+18C>T	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10741011G>A	(Likely) benign	1 lab	99706f7f96
2:220286086 DES C>T	2	220286086	220286086	C	T	DES	c.1048C>T	NM_001927.4	NP_001918.3:p.(Arg350Trp)	NC_000002.11:g.220286086C>T	VUS	1 lab	997291d491
6:7581105 DSP ACT>A	6	7581105	7581111	ACT	A	DSP	c.4687_4688del	NM_004415.4	NP_004406.2:p.(Leu1563GlufsTer63)	NC_000006.11:g.7581110_7581111del	(Likely) pathogenic	1 lab	997a772d36
15:73617665 HCN4 C>T	15	73617665	73617665	C	T	HCN4	c.1711G>A	NM_005477.3	NP_005468.1:p.(Gly571Ser)	NC_000015.9:g.73617665C>T	VUS	1 lab	997b9f2648
12:125270781 SCARB1 A>G	12	125270781	125270781	A	G	SCARB1	c.1523T>C	NM_001367981.1	NP_001354910.1:p.(Leu508Pro)	NC_000012.11:g.125270781A>G	VUS	1 lab	997d93cbef
19:45452041 APOC2 T>C	19	45452041	45452041	T	C	APOC2	c.139T>C	NM_000483.5	NP_000474.2:p.(Tyr47His)	NC_000019.9:g.45452041T>C	(Likely) pathogenic	1 lab	997f281c72
10:121436165 BAG3 C>A	10	121436165	121436165	C	A	BAG3	c.1099C>A	NM_004281.4	NP_004272.2:p.(Pro367Thr)	NC_000010.10:g.121436165C>A	VUS	1 lab	9980724ea2
1:2232532 SKI G>A	1	2232532	2232532	G	A	SKI	c.970-1885G>A	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2232532G>A	(Likely) benign	1 lab	9980b7c394
2:179408713 TTN-AS1 A>G	2	179408713	179408713	A	G	TTN-AS1	n.2043+1625A>G	NR_038272.1		NC_000002.11:g.179408713A>G	(Likely) benign	1 lab	9982515a67
10:90976167 LIPA C>CAT	10	90976167	90976182	C	CAT	LIPA	c.895-403_895-402dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90976181_90976182dup	(Likely) benign	1 lab	99829e0d23
19:15303060 NOTCH3 G>A	19	15303060	15303060	G	A	NOTCH3	c.390C>T	NM_000435.3	NP_000426.2:p.(His130=)	NC_000019.9:g.15303060G>A	(Likely) benign	1 lab	99858d3bd0
9:107578428 ABCA1 T>C	9	107578428	107578428	T	C	ABCA1	c.3734A>G	NM_005502.4	NP_005493.2:p.(Glu1245Gly)	NC_000009.11:g.107578428T>C	VUS	1 lab	99868bd047
2:21231565 APOB A>G	2	21231565	21231565	A	G	APOB	c.8175T>C	NM_000384.3	NP_000375.3:p.(Thr2725=)	NC_000002.11:g.21231565A>G	(Likely) benign	1 lab	9986bd16fa
15:48760294 FBN1 G>A	15	48760294	48760294	G	A	FBN1	c.4588C>T	NM_000138.5	NP_000129.3:p.(Arg1530Cys)	NC_000015.9:g.48760294G>A	(Likely) pathogenic	1 lab	99878bdd34
1:235600732 TBCE G>A	1	235600732	235600732	G	A	TBCE	c.1212G>A	NM_001287801.2	NP_001274730.1:p.(Thr404=)	NC_000001.10:g.235600732G>A	(Likely) benign	1 lab	9988cb697e
12:27800746 PPFIBP1 G>T	12	27800746	27800746	G	T	PPFIBP1	c.442G>T	NM_177444.3	NP_803193.3:p.(Val148Leu)	NC_000012.11:g.27800746G>T	(Likely) benign	1 lab	9989c8c4a9
16:46772011 MYLK3 G>A	16	46772011	46772011	G	A	MYLK3	c.613C>T	NM_182493.3	NP_872299.2:p.(Pro205Ser)	NC_000016.9:g.46772011G>A	VUS	1 lab	998c195e86
2:27305610 EMILIN1 G>T	2	27305610	27305610	G	T	EMILIN1	c.1171G>T	NM_007046.4	NP_008977.1:p.(Ala391Ser)	NC_000002.11:g.27305610G>T	(Likely) benign	1 lab	998daa4b05
2:179391758 TTN A>T	2	179391758	179391758	A	T	TTN	c.107957T>A	NM_001267550.2	NP_001254479.2:p.(Ile35986Lys)	NC_000002.11:g.179391758A>T	VUS	1 lab	999210c388
3:38830511 SCN10A T>C	3	38830511	38830511	T	C	SCN10A	c.406A>G	NM_006514.4	NP_006505.4:p.(Ile136Val)	NC_000003.11:g.38830511T>C	(Likely) benign	1 lab	9993248c27
3:123419684 MYLK C>T	3	123419684	123419684	C	T	MYLK	c.2631G>A	NM_053025.4	NP_444253.3:p.(Val877=)	NC_000003.11:g.123419684C>T	(Likely) benign	1 lab	9994d4b23d
6:152589205 SYNE1 G>A	6	152589205	152589205	G	A	SYNE1	c.18801C>T	NM_182961.4	NP_892006.3:p.(Thr6267=)	NC_000006.11:g.152589205G>A	(Likely) benign	1 lab	9998110217
11:47363420 MYBPC3 G>A	11	47363420	47363420	G	A	MYBPC3	c.1790+122C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363420G>A	(Likely) benign	1 lab	999a7bf936
7:120373001 KCND2 G>A	7	120373001	120373001	G	A	KCND2	c.1160G>A	NM_012281.3	NP_036413.1:p.(Gly387Asp)	NC_000007.13:g.120373001G>A	VUS	1 lab	999cdee0b6
1:26386863 TRIM63 G>C	1	26386863	26386863	G	C	TRIM63	c.502-11C>G	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26386863G>C	VUS	1 lab	99a33acc0b
17:37580078 MED1 C>CAAAAAA	17	37580078	37580086	C	CAAAAAA	MED1	c.852-10_852-5dup	NM_004774.4	NP_004765.2:p.?	NC_000017.10:g.37580081_37580086dup	(Likely) benign	1 lab	99a4f68e4b
2:15506813 NBAS T>C	2	15506813	15506813	T	C	NBAS	c.3708A>G	NM_015909.4	NP_056993.2:p.(Arg1236=)	NC_000002.11:g.15506813T>C	(Likely) benign	1 lab	99a559c3c5
2:179494016 TTN C>T	2	179494016	179494016	C	T	TTN	c.44424+12G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179494016C>T	(Likely) benign	1 lab	99a5ff3225
7:128480511 FLNC G>A	7	128480511	128480511	G	A	FLNC	c.1550-91G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480511G>A	(Likely) benign	1 lab	99a6ab750d
9:95480869 BICD2 C>T	9	95480869	95480869	C	T	BICD2	c.2058G>A	NM_001003800.2	NP_001003800.1:p.(Lys686=)	NC_000009.11:g.95480869C>T	(Likely) benign	1 lab	99aa140b04
15:48777906 FBN1 G>A	15	48777906	48777906	G	A	FBN1	c.3590-213C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48777906G>A	(Likely) benign	1 lab	99aa41895a
9:35683240 TPM2 T>TGGG	9	35683240	35683248	T	TGGG	TPM2	c.773-5_773-3dup	NM_001301227.2	NP_001288156.1:p.?	NC_000009.11:g.35683246_35683248dup	(Likely) benign	1 lab	99aba183c4
2:179442238 TTN C>T	2	179442238	179442238	C	T	TTN	c.68825-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442238C>T	(Likely) pathogenic	1 lab	99ae25e5fa
16:16295902 ABCC6 G>A	16	16295902	16295902	G	A	ABCC6	c.1132C>T	NM_001171.6	NP_001162.5:p.(Gln378Ter)	NC_000016.9:g.16295902G>A	(Likely) pathogenic	1 lab	99b20bb791
19:41350599 CYP2A6 G>A	19	41350599	41350599	G	A	CYP2A6	c.1240C>T	NM_000762.6	NP_000753.3:p.(Gln414Ter)	NC_000019.9:g.41350599G>A	(Likely) pathogenic	1 lab	99b9e5f287
14:21786013 RPGRIP1 G>T	14	21786013	21786013	G	T	RPGRIP1	c.1306+4G>T	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21786013G>T	(Likely) benign	1 lab	99bc7d3ecf
10:61874042 ANK3 G>A	10	61874042	61874042	G	A	ANK3	c.2889C>T	NM_020987.5	NP_066267.2:p.(Tyr963=)	NC_000010.10:g.61874042G>A	(Likely) benign	1 lab	99bc98bd30
19:45924430 ERCC1 C>T	19	45924430	45924430	C	T	ERCC1	c.321+6G>A	NM_001983.4	NP_001974.1:p.?	NC_000019.9:g.45924430C>T	(Likely) benign	1 lab	99c37c604a
3:4744553 ITPR1 T>C	3	4744553	4744553	T	C	ITPR1	c.4531T>C	NM_001168272.2	NP_001161744.1:p.(Phe1511Leu)	NC_000003.11:g.4744553T>C	VUS	1 lab	99c5cc3ba3
6:56458836 DST A>C	6	56458836	56458836	A	C	DST	c.5994T>G	NM_001144769.5	NP_001138241.1:p.(Thr1998=)	NC_000006.11:g.56458836A>C	(Likely) benign	1 lab	99c6f2072a
2:50845257 NRXN1 Ref too long to show for this DEL>T	2	50845257	51101812	Ref too long to show for this DEL	T	NRXN1	c.832+47195_1320+1902del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50845258_51101812del	(Likely) pathogenic	1 lab	99cbfcf9d7
12:21358944 SLCO1B1 T>A	12	21358944	21358944	T	A	SLCO1B1	c.1474T>A	NM_006446.5	NP_006437.3:p.(Ser492Thr)	NC_000012.11:g.21358944T>A	(Likely) benign	1 lab	99cc895bf9
19:35523559 SCN1B G>C	19	35523559	35523559	G	C	SCN1B	c.168G>C	NM_199037.5	NP_950238.1:p.(Glu56Asp)	NC_000019.9:g.35523559G>C	VUS	1 lab	99ccea8bcf
2:44059202 ABCG5 G>C	2	44059202	44059202	G	C	ABCG5	c.286C>G	NM_022436.3	NP_071881.1:p.(Leu96Val)	NC_000002.11:g.44059202G>C	VUS	1 lab	99cd93ac5f
19:55320330 KIR2DL4 T>C	19	55320330	55320330	T	C	KIR2DL4	c.698T>C	NM_001080772.2	NP_001074241.1:p.(Phe233Ser)	NC_000019.9:g.55320330T>C	(Likely) benign	1 lab	99cdd2c31d
2:21245789 APOB A>G	2	21245789	21245789	A	G	APOB	c.2730T>C	NM_000384.3	NP_000375.3:p.(Gly910=)	NC_000002.11:g.21245789A>G	(Likely) benign	1 lab	99d0ca4786
9:322792 MISSING C>Alt too long to show for this DUP	9	322792	633581	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.322793_633581dup	VUS	1 lab	99d1b301a6
1:237880626 RYR2 G>T	1	237880626	237880626	G	T	RYR2	c.10452G>T	NM_001035.3	NP_001026.2:p.(Gly3484=)	NC_000001.10:g.237880626G>T	(Likely) benign	1 lab	99da1c6526
3:63729048 MISSING G>Alt too long to show for this DUP	3	63729048	63866010	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.63729049_63866010dup	VUS	1 lab	99daf774af
20:34091063 CEP250 A>G	20	34091063	34091063	A	G	CEP250	c.4866A>G	NM_007186.6	NP_009117.2:p.(Ala1622=)	NC_000020.10:g.34091063A>G	(Likely) benign	1 lab	99dbf824b2
1:3319550 PRDM16 C>T	1	3319550	3319550	C	T	PRDM16	c.872C>T	NM_022114.4	NP_071397.3:p.(Pro291Leu)	NC_000001.10:g.3319550C>T	VUS	1 lab	99df09fcaf
6:7575559 DSP C>T	6	7575559	7575559	C	T	DSP	c.2468C>T	NM_004415.4	NP_004406.2:p.(Ser823Leu)	NC_000006.11:g.7575559C>T	VUS	1 lab	99dfa98d26
17:48265890 COL1A1 C>T	17	48265890	48265890	C	T	COL1A1	c.3207+1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265890C>T	(Likely) pathogenic	1 lab	99e088a0bd
8:19819714 LPL A>C	8	19819714	19819714	A	C	LPL	c.1411A>C	NM_000237.3	NP_000228.1:p.(Asn471His)	NC_000008.10:g.19819714A>C	(Likely) benign	1 lab	99e5b9ec1c
11:76908643 MYO7A G>T	11	76908643	76908643	G	T	MYO7A	c.4441G>T	NM_000260.4	NP_000251.3:p.(Gly1481Cys)	NC_000011.9:g.76908643G>T	VUS	1 lab	99e7d9f8ad
1:78408265 NEXN T>G	1	78408265	78408265	T	G	NEXN	c.1779T>G	NM_144573.4	NP_653174.3:p.(Val593=)	NC_000001.10:g.78408265T>G	(Likely) benign	1 lab	99e7eaa15c
12:117962761 KSR2 C>T	12	117962761	117962761	C	T	KSR2	c.2115G>A	NM_173598.6	NP_775869.4:p.(Lys705=)	NC_000012.11:g.117962761C>T	(Likely) benign	1 lab	99eded07e1
14:64519455 SYNE2 A>G	14	64519455	64519455	A	G	SYNE2	c.8824A>G	NM_182914.3	NP_878918.2:p.(Ile2942Val)	NC_000014.8:g.64519455A>G	(Likely) benign	1 lab	99ee7767b2
3:148895659 CP C>T	3	148895659	148895659	C	T	CP	c.2986G>A	NM_000096.4	NP_000087.2:p.(Val996Ile)	NC_000003.11:g.148895659C>T	(Likely) benign	1 lab	99f168d755
17:41215948 BRCA1 G>T	17	41215948	41215948	G	T	BRCA1	c.5095C>A	NM_007294.4	NP_009225.1:p.(Arg1699=)	NC_000017.10:g.41215948G>T	(Likely) benign	1 lab	99f182f9ca
19:1219373 STK11 G>C	19	1219373	1219373	G	C	STK11	c.425G>C	NM_000455.5	NP_000446.1:p.(Ser142Thr)	NC_000019.9:g.1219373G>C	VUS	1 lab	99f24f0f4d
16:46761177 MYLK3 G>C	16	46761177	46761177	G	C	MYLK3	c.1885C>G	NM_182493.3	NP_872299.2:p.(Gln629Glu)	NC_000016.9:g.46761177G>C	VUS	1 lab	99f38bba29
20:744234 SLC52A3 C>G	20	744234	744234	C	G	SLC52A3	c.981G>C	NM_033409.4	NP_212134.3:p.(Leu327=)	NC_000020.10:g.744234C>G	(Likely) benign	1 lab	99f6b96b27
5:127863734 FBN2 C>T	5	127863734	127863734	C	T	FBN2	c.437-74G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127863734C>T	(Likely) benign	1 lab	99f88fd002
X:13762591 OFD1 G>A	X	13762591	13762591	G	A	OFD1	c.470G>A	NM_003611.3	NP_003602.1:p.(Cys157Tyr)	NC_000023.10:g.13762591G>A	(Likely) benign	1 lab	99f8d0eb7a
17:4802408 CHRNE G>A	17	4802408	4802408	G	A	CHRNE	c.1220-6C>T	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4802408G>A	(Likely) benign	1 lab	99fc6a07a5
12:50499426 GPD1 C>G	12	50499426	50499426	C	G	GPD1	c.315C>G	NM_005276.4	NP_005267.2:p.(Leu105=)	NC_000012.11:g.50499426C>G	(Likely) benign	1 lab	9a01012885
2:44104845 ABCG8 C>T	2	44104845	44104845	C	T	ABCG8	c.1884+18C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104845C>T	(Likely) benign	1 lab	9a0101c46e
1:55509649 PCSK9 T>C	1	55509649	55509649	T	C	PCSK9	c.341T>C	NM_174936.4	NP_777596.2:p.(Val114Ala)	NC_000001.10:g.55509649T>C	(Likely) pathogenic	1 lab	9a0330131e
15:30925781 MISSING Ref too long to show for this DEL>G	15	30925781	32539666	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.30925782_32539666del	(Likely) pathogenic	1 lab	9a05d854d4
6:75823474 COL12A1 CAAAAG>C	6	75823474	75823482	CAAAAG	C	COL12A1	c.7698-19_7698-15del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75823478_75823482del	(Likely) benign	1 lab	9a08b7af84
X:118604400 SLC25A5 T>G	X	118604400	118604400	T	G	SLC25A5	c.663T>G	NM_001152.5	NP_001143.2:p.(Thr221=)	NC_000023.10:g.118604400T>G	(Likely) benign	1 lab	9a0e401d67
9:107599534 ABCA1 C>T	9	107599534	107599534	C	T	ABCA1	c.1195-157G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599534C>T	VUS	1 lab	9a0e445c91
6:84796943 MRAP2 A>G	6	84796943	84796943	A	G	MRAP2	c.5A>G	NM_001346543.2	NP_001333472.1:p.(Asn2Ser)	NC_000006.11:g.84796943A>G	(Likely) benign	1 lab	9a0fd02cf2
5:82815158 VCAN A>G	5	82815158	82815158	A	G	VCAN	c.1043-10A>G	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82815158A>G	(Likely) benign	1 lab	9a1103d454
8:19796609 LPL C>G	8	19796609	19796609	C	G	LPL				NC_000008.10:g.19796609C>G	VUS	1 lab	9a13c25068
12:49373496 WNT1 T>G	12	49373496	49373496	T	G	WNT1	c.350T>G	NM_005430.4	NP_005421.1:p.(Val117Gly)	NC_000012.11:g.49373496T>G	VUS	1 lab	9a147d7312
2:219674165 CYP27A1 CTT>C	2	219674165	219674187	CTT	C	CYP27A1	c.256-114_256-113del	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219674186_219674187del	(Likely) benign	1 lab	9a15ea8565
7:150671909 KCNH2 C>T	7	150671909	150671909	C	T	KCNH2	c.197G>A	NM_000238.4	NP_000229.1:p.(Cys66Tyr)	NC_000007.13:g.150671909C>T	(Likely) pathogenic	1 lab	9a169ef533
7:104753255 KMT2E T>C	7	104753255	104753255	T	C	KMT2E	c.5052T>C	NM_182931.3	NP_891847.1:p.(Pro1684=)	NC_000007.13:g.104753255T>C	(Likely) benign	1 lab	9a16daf4ae
5:89933568 ADGRV1 A>G	5	89933568	89933568	A	G	ADGRV1	c.2043A>G	NM_032119.4	NP_115495.3:p.(Gly681=)	NC_000005.9:g.89933568A>G	(Likely) benign	1 lab	9a17a6be87
16:15811828 MYH11 C>T	16	15811828	15811828	C	T	MYH11	c.5316+344G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15811828C>T	(Likely) benign	1 lab	9a1b3d913d
3:133167355 BFSP2 C>T	3	133167355	133167355	C	T	BFSP2	c.595C>T	NM_003571.4	NP_003562.1:p.(Arg199Ter)	NC_000003.11:g.133167355C>T	(Likely) pathogenic	1 lab	9a1f10fbbf
5:140710549 PCDHGA1 Ref too long to show for this DEL>A	5	140710549	140755975	Ref too long to show for this DEL	A	PCDHGA1	c.299_2421+43303del	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140710550_140755975del	VUS	1 lab	9a22788475
22:36693441 MYH9 Ref too long to show for this DEL>C	22	36693441	36759183	Ref too long to show for this DEL	C	MYH9	c.-19-13881_3101-382del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36693444_36759183del	VUS	1 lab	9a22878ff3
11:109026761 MISSING Ref too long to show for this DEL>G	11	109026761	109414650	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.109026762_109414650del	VUS	1 lab	9a2459db0c
13:32915132 BRCA2 A>AC	13	32915132	32915133	A	AC	BRCA2	c.6641dup	NM_000059.4	NP_000050.3:p.(Tyr2215LeufsTer10)	NC_000013.10:g.32915133dup	(Likely) pathogenic	1 lab	9a28509128
19:11222233 LDLR C>T	19	11222233	11222233	C	T	LDLR	c.1104C>T	NM_000527.5	NP_000518.1:p.(Cys368=)	NC_000019.9:g.11222233C>T	(Likely) benign	1 lab	9a2b742a6b
2:179442180 TTN C>T	2	179442180	179442180	C	T	TTN	c.61178G>A	NM_133378.4	NP_596869.4:p.(Gly20393Glu)	NC_000002.11:g.179442180C>T	VUS	1 lab	9a308d3c52
7:100403143 EPHB4 G>A	7	100403143	100403143	G	A	EPHB4	c.2658C>T	NM_004444.5	NP_004435.3:p.(Ile886=)	NC_000007.13:g.100403143G>A	(Likely) benign	1 lab	9a31257a54
18:45394956 SMAD2 A>G	18	45394956	45394956	A	G	SMAD2	c.521-128T>C	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45394956A>G	(Likely) benign	1 lab	9a382302b2
2:21229369 APOB G>A	2	21229369	21229369	G	A	APOB	c.10371C>T	NM_000384.3	NP_000375.3:p.(Ser3457=)	NC_000002.11:g.21229369G>A	(Likely) benign	1 lab	9a3e2ba0ea
6:71009732 COL9A1 T>G	6	71009732	71009732	T	G	COL9A1	c.299+14A>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71009732T>G	(Likely) benign	1 lab	9a3f911d2d
12:125348216 SCARB1 C>T	12	125348216	125348216	C	T	SCARB1	c.51G>A	NM_001367981.1	NP_001354910.1:p.(Ala17=)	NC_000012.11:g.125348216C>T	(Likely) benign	1 lab	9a406d6ea0
8:19805681 LPL T>C	8	19805681	19805681	T	C	LPL	c.89-10T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805681T>C	(Likely) benign	1 lab	9a41844545
9:139302015 ENTR1 TAA>T	9	139302015	139302037	TAA	T	ENTR1	c.403-4_403-3del	NM_001039707.2	NP_001034796.1:p.?	NC_000009.11:g.139302036_139302037del	(Likely) benign	1 lab	9a445f4725
2:21230500 APOB G>A	2	21230500	21230500	G	A	APOB	c.9240C>T	NM_000384.3	NP_000375.3:p.(Pro3080=)	NC_000002.11:g.21230500G>A	(Likely) benign	1 lab	9a46f81bd5
17:48245361 SGCA G>A	17	48245361	48245361	G	A	SGCA	c.366G>A	NM_000023.4	NP_000014.1:p.(Leu122=)	NC_000017.10:g.48245361G>A	(Likely) benign	1 lab	9a4a46705f
1:103405871 COL11A1 A>C	1	103405871	103405871	A	C	COL11A1	c.3420+12T>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103405871A>C	(Likely) benign	1 lab	9a4bfd5a1f
19:50753870 MYH14 C>T	19	50753870	50753870	C	T	MYH14	c.1755C>T	NM_001145809.2	NP_001139281.1:p.(Gly585=)	NC_000019.9:g.50753870C>T	(Likely) benign	1 lab	9a4e89e1db
16:57005299 CETP T>C	16	57005299	57005299	T	C	CETP	c.658+6T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005299T>C	VUS	1 lab	9a4f60a014
1:160194350 DCAF8 C>T	1	160194350	160194350	C	T	DCAF8	c.1202-11G>A	NM_015726.4	NP_056541.2:p.?	NC_000001.10:g.160194350C>T	(Likely) benign	1 lab	9a7a6f5ba8
12:32975887 PKP2 T>C	12	32975887	32975887	T	C	PKP2	c.1807-322A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32975887T>C	(Likely) benign	1 lab	9a51e651e1
19:13470492 CACNA1A G>T	19	13470492	13470492	G	T	CACNA1A	c.906C>A	NM_023035.3	NP_075461.2:p.(Asp302Glu)	NC_000019.9:g.13470492G>T	VUS	1 lab	9a54a7692f
16:1004437 LMF1 C>T	16	1004437	1004437	C	T	LMF1	c.96G>A	NM_001352019.2	NP_001338948.1:p.(Leu32=)	NC_000016.9:g.1004437C>T	(Likely) benign	1 lab	9a556406a0
7:117292957 CFTR A>G	7	117292957	117292957	A	G	CFTR	c.3935A>G	NM_000492.4	NP_000483.3:p.(Asp1312Gly)	NC_000007.13:g.117292957A>G	(Likely) pathogenic	1 lab	9a56c23238
16:81385187 GAN G>A	16	81385187	81385187	G	A	GAN	c.168-1G>A	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81385187G>A	(Likely) pathogenic	1 lab	9a591980e5
19:2511310 MISSING Ref too long to show for this DEL>A	19	2511310	2787459	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.2511313_2787459del	VUS	1 lab	9a591d8936
2:179604299 TTN T>C	2	179604299	179604299	T	C	TTN	c.13661A>G	NM_001267550.2	NP_001254479.2:p.(Lys4554Arg)	NC_000002.11:g.179604299T>C	VUS	1 lab	9a5bbcd82f
14:81610503 TSHR C>T	14	81610503	81610503	C	T	TSHR	c.2101C>T	NM_000369.5	NP_000360.2:p.(Arg701Cys)	NC_000014.8:g.81610503C>T	VUS	1 lab	9a5f4f294f
9:137649836 COL5A1 C>T	9	137649836	137649836	C	T	COL5A1	c.1882-253C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137649836C>T	(Likely) benign	1 lab	9a639ee37d
16:67977862 LCAT G>C	16	67977862	67977862	G	C	LCAT	c.143C>G	NM_000229.2	NP_000220.1:p.(Pro48Arg)	NC_000016.9:g.67977862G>C	VUS	1 lab	9a657eba3f
9:107555504 ABCA1 C>A	9	107555504	107555504	C	A	ABCA1	c.5584G>T	NM_005502.4	NP_005493.2:p.(Val1862Leu)	NC_000009.11:g.107555504C>A	VUS	1 lab	9a660e52f3
5:138269727 CTNNA1 C>T	5	138269727	138269727	C	T	CTNNA1	c.2670C>T	NM_001903.5	NP_001894.2:p.(His890=)	NC_000005.9:g.138269727C>T	(Likely) benign	1 lab	9a68056a07
3:133537909 MISSING Ref too long to show for this DEL>A	3	133537909	133550761	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.133537910_133550761del	VUS	1 lab	9a69e6d56b
2:109228243 MISSING A>Alt too long to show for this DUP	2	109228243	109523233	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.109228244_109523233dup	VUS	1 lab	9a6b3044ba
X:21874695 YY2 T>G	X	21874695	21874695	T	G	YY2	c.93T>G	NM_206923.4	NP_996806.2:p.(Pro31=)	NC_000023.10:g.21874695T>G	(Likely) benign	1 lab	9a6c1d843a
9:135777058 TSC1 A>G	9	135777058	135777058	A	G	TSC1	c.2420T>C	NM_000368.5	NP_000359.1:p.(Ile807Thr)	NC_000009.11:g.135777058A>G	(Likely) benign	1 lab	9a6e6a148f
17:1584948 PRPF8 G>A	17	1584948	1584948	G	A	PRPF8	c.690C>T	NM_006445.4	NP_006436.3:p.(Phe230=)	NC_000017.10:g.1584948G>A	(Likely) benign	1 lab	9a710646eb
13:23898690 SGCG G>A	13	23898690	23898690	G	A	SGCG	c.*10G>A	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23898690G>A	(Likely) benign	1 lab	9c3341ceb7
7:72593488 MISSING Ref too long to show for this DEL>G	7	72593488	74356771	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72593489_74356771del	(Likely) pathogenic	1 lab	9a712dd7c1
3:49760498 GMPPB A>G	3	49760498	49760498	A	G	GMPPB	c.309T>C	NM_021971.4	NP_068806.2:p.(Pro103=)	NC_000003.11:g.49760498A>G	(Likely) benign	1 lab	9a7274ce24
10:73377222 CDH23 A>G	10	73377222	73377222	A	G	CDH23	c.1206A>G	NM_001171932.2	NP_001165403.1:p.(Ser402=)	NC_000010.10:g.73377222A>G	(Likely) benign	1 lab	9a72dc07aa
15:40950914 MISSING Ref too long to show for this DEL>G	15	40950914	40989076	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.40950915_40989076del	(Likely) pathogenic	1 lab	9a73e3ea04
5:172660523 NKX2-5 T>TA	5	172660523	172660526	T	TA	NKX2-5	c.335-20dup	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660526dup	(Likely) benign	1 lab	9a788450b7
6:114277851 HDAC2 A>C	6	114277851	114277851	A	C	HDAC2	c.290T>G	NM_001527.4	NP_001518.3:p.(Val97Gly)	NC_000006.11:g.114277851A>C	VUS	1 lab	9a79a8380c
4:110791131 LRIT3 C>T	4	110791131	110791131	C	T	LRIT3	c.1226C>T	NM_198506.5	NP_940908.3:p.(Ser409Phe)	NC_000004.11:g.110791131C>T	(Likely) benign	1 lab	9a7e7c99c1
4:114257201 ANK2 C>T	4	114257201	114257201	C	T	ANK2	c.3579C>T	NM_001148.6	NP_001139.3:p.(Arg1193=)	NC_000004.11:g.114257201C>T	(Likely) benign	1 lab	9a82b4b2bd
10:73574842 CDH23 C>T	10	73574842	73574842	C	T	CDH23	c.9872C>T	NM_022124.6	NP_071407.4:p.(Thr3291Met)	NC_000010.10:g.73574842C>T	VUS	1 lab	9a83119383
X:63879592 MISSING T>Alt too long to show for this DUP	X	63879592	64355553	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.63879594_64355553dup	VUS	1 lab	9a83e29ae1
4:100527890 MTTP T>C	4	100527890	100527890	T	C	MTTP	c.1345-15T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100527890T>C	(Likely) benign	1 lab	9a85b7cf50
12:33049870 PKP2 C>A	12	33049870	33049870	C	A	PKP2				NC_000012.11:g.33049870C>A	VUS	1 lab	9a8b211dce
19:44056954 XRCC1 G>A	19	44056954	44056954	G	A	XRCC1	c.818C>T	NM_006297.3	NP_006288.2:p.(Pro273Leu)	NC_000019.9:g.44056954G>A	VUS	1 lab	9a8bffa4a9
1:186158725 HMCN1 C>G	1	186158725	186158725	C	G	HMCN1	c.16623C>G	NM_031935.3	NP_114141.2:p.(Leu5541=)	NC_000001.10:g.186158725C>G	(Likely) benign	1 lab	9a8d8efce5
16:15880535 MYH11 C>T	16	15880535	15880535	C	T	MYH11	c.585G>A	NM_001040113.2	NP_001035202.1:p.(Leu195=)	NC_000016.9:g.15880535C>T	(Likely) benign	1 lab	9a8f82bb0b
2:190044194 COL5A2 G>A	2	190044194	190044194	G	A	COL5A2	c.97+40C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.190044194G>A	(Likely) benign	1 lab	9a920d2241
2:44053562 ABCG5 C>T	2	44053562	44053562	C	T	ABCG5	c.733G>A	NM_022436.3	NP_071881.1:p.(Val245Met)	NC_000002.11:g.44053562C>T	VUS	1 lab	9ad90f0246
8:59404183 CYP7A1 G>C	8	59404183	59404183	G	C	CYP7A1	c.1366C>G	NM_000780.4	NP_000771.2:p.(Gln456Glu)	NC_000008.10:g.59404183G>C	VUS	1 lab	9a99ba88dd
3:32200359 GPD1L C>G	3	32200359	32200359	C	G	GPD1L	c.619-9C>G	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32200359C>G	(Likely) benign	1 lab	9a9d0e446c
1:211654608 RD3 C>T	1	211654608	211654608	C	T	RD3	c.150G>A	NM_183059.3	NP_898882.1:p.(Ala50=)	NC_000001.10:g.211654608C>T	(Likely) benign	1 lab	9a9f8c7a6d
9:107555138 ABCA1 T>C	9	107555138	107555138	T	C	ABCA1	c.5686A>G	NM_005502.4	NP_005493.2:p.(Arg1896Gly)	NC_000009.11:g.107555138T>C	VUS	1 lab	9aa4b33e2b
2:21245732 APOB TG>T	2	21245732	21245736	TG	T	APOB	c.2786del	NM_000384.3	NP_000375.3:p.(Pro929GlnfsTer24)	NC_000002.11:g.21245736del	(Likely) pathogenic	1 lab	9aa4d28e1c
15:23685343 GOLGA6L2 T>C	15	23685343	23685343	T	C	GOLGA6L2	c.2279A>G	NM_001304388.2	NP_001291317.1:p.(Glu760Gly)	NC_000015.9:g.23685343T>C	(Likely) benign	1 lab	9aa702f78f
2:109367749 RANBP2 C>T	2	109367749	109367749	C	T	RANBP2	c.1303C>T	NM_006267.5	NP_006258.3:p.(Gln435Ter)	NC_000002.11:g.109367749C>T	VUS	1 lab	9aabccbe03
3:193349411 OPA1 AAG>A	3	193349411	193349416	AAG	A	OPA1	c.804_805del	NM_130837.3	NP_570850.2:p.(Lys269AsnfsTer2)	NC_000003.11:g.193349415_193349416del	(Likely) pathogenic	1 lab	9aad1d580a
5:37226512 CPLANE1 T>C	5	37226512	37226512	T	C	CPLANE1	c.2185A>G	NM_023073.4	NP_075561.3:p.(Ile729Val)	NC_000005.9:g.37226512T>C	VUS	1 lab	9aaee81084
16:17564438 XYLT1 G>A	16	17564438	17564438	G	A	XYLT1	c.216C>T	NM_022166.4	NP_071449.1:p.(Ala72=)	NC_000016.9:g.17564438G>A	(Likely) benign	1 lab	9ab1ac4b42
6:41127580 TREM2 G>A	6	41127580	41127580	G	A	TREM2	c.432C>T	NM_018965.4	NP_061838.1:p.(Pro144=)	NC_000006.11:g.41127580G>A	(Likely) benign	1 lab	9ab63e0b4f
1:169437436 SLC19A2 T>C	1	169437436	169437436	T	C	SLC19A2	c.1278A>G	NM_006996.3	NP_008927.1:p.(Val426=)	NC_000001.10:g.169437436T>C	(Likely) benign	1 lab	9ab735d2ba
16:15814112 MYH11 C>A	16	15814112	15814112	C	A	MYH11	c.4870G>T	NM_001040113.2	NP_001035202.1:p.(Ala1624Ser)	NC_000016.9:g.15814112C>A	VUS	1 lab	9ab8698151
9:35706334 TLN1 C>T	9	35706334	35706334	C	T	TLN1	c.5220G>A	NM_006289.4	NP_006280.3:p.(Pro1740=)	NC_000009.11:g.35706334C>T	(Likely) benign	1 lab	9abb326b97
3:123359074 MYLK G>T	3	123359074	123359074	G	T	MYLK	c.4837+60C>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123359074G>T	(Likely) benign	1 lab	9abbc87667
11:116661043 APOA5 C>T	11	116661043	116661043	C	T	APOA5	c.902G>A	NM_052968.5	NP_443200.2:p.(Arg301His)	NC_000011.9:g.116661043C>T	VUS	1 lab	9abd1e6097
7:91727532 AKAP9 A>G	7	91727532	91727532	A	G	AKAP9	c.10713+4A>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91727532A>G	VUS	1 lab	9abdfe885f
1:237870411 RYR2 G>A	1	237870411	237870411	G	A	RYR2	c.9743G>A	NM_001035.3	NP_001026.2:p.(Arg3248His)	NC_000001.10:g.237870411G>A	VUS	1 lab	9abe587aa0
7:30649345 GARS1 G>C	7	30649345	30649345	G	C	GARS1	c.880G>C	NM_002047.4	NP_002038.2:p.(Gly294Arg)	NC_000007.13:g.30649345G>C	(Likely) pathogenic	1 lab	9ac141064d
6:7581590 DSP G>C	6	7581590	7581590	G	C	DSP	c.5167G>C	NM_004415.4	NP_004406.2:p.(Glu1723Gln)	NC_000006.11:g.7581590G>C	VUS	1 lab	9ac3b41fea
17:80474864 MISSING Ref too long to show for this DEL>C	17	80474864	80489430	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.80474865_80489430del	VUS	1 lab	9ac3c27715
16:67974030 LCAT T>C	16	67974030	67974030	T	C	LCAT	c.1100A>G	NM_000229.2	NP_000220.1:p.(Asp367Gly)	NC_000016.9:g.67974030T>C	VUS	1 lab	9ac3e2d318
9:135787012 TSC1 TAAAA>T	9	135787012	135787043	TAAAA	T	TSC1	c.914-61_914-58del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135787040_135787043del	(Likely) benign	1 lab	9ac55137ad
1:25892035 LDLRAP1 CT>C	1	25892035	25892049	CT	C	LDLRAP1	c.782+351del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25892049del	(Likely) benign	1 lab	9ac78939b4
10:54032424 PRKG1 C>A	10	54032424	54032424	C	A	PRKG1	c.1358+183C>A	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54032424C>A	(Likely) benign	1 lab	9ac8ee36ae
14:23902845 MYH7 G>C	14	23902845	23902845	G	C	MYH7	c.97C>G	NM_000257.4	NP_000248.2:p.(Leu33Val)	NC_000014.8:g.23902845G>C	VUS	1 lab	9acaef97a2
8:133920513 TG C>T	8	133920513	133920513	C	T	TG	c.3930C>T	NM_003235.5	NP_003226.4:p.(Tyr1310=)	NC_000008.10:g.133920513C>T	(Likely) benign	1 lab	9acf9e5a29
15:28263690 OCA2 GC>G	15	28263690	28263691	GC	G	OCA2	c.659del	NM_000275.3	NP_000266.2:p.(Ser220ThrfsTer17)	NC_000015.9:g.28263691del	(Likely) pathogenic	1 lab	9ad6d25db4
2:238249075 COL6A3 C>G	2	238249075	238249075	C	G	COL6A3	c.8464+20G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238249075C>G	VUS	1 lab	9adea9777c
17:63204139 RGS9 T>A	17	63204139	63204139	T	A	RGS9	c.1289+14T>A	NM_003835.4	NP_003826.2:p.?	NC_000017.10:g.63204139T>A	(Likely) benign	1 lab	9ae2d7c49a
12:119617383 HSPB8 C>G	12	119617383	119617383	C	G	HSPB8	c.266C>G	NM_014365.3	NP_055180.1:p.(Pro89Arg)	NC_000012.11:g.119617383C>G	VUS	1 lab	9ae6593631
17:62043876 SCN4A G>A	17	62043876	62043876	G	A	SCN4A	c.1065C>T	NM_000334.4	NP_000325.4:p.(Asn355=)	NC_000017.10:g.62043876G>A	(Likely) benign	1 lab	9ae9ee8f57
6:32029207 TNXB G>A	6	32029207	32029207	G	A	TNXB	c.7459C>T	NM_019105.8	NP_061978.6:p.(Arg2487Cys)	NC_000006.11:g.32029207G>A	VUS	1 lab	9aebca29ad
10:84211566 MISSING Ref too long to show for this DEL>C	10	84211566	91410311	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.84211567_91410311del	(Likely) pathogenic	1 lab	9aec2a51b0
16:3639109 SLX4 C>A	16	3639109	3639109	C	A	SLX4	c.4530G>T	NM_032444.4	NP_115820.2:p.(Leu1510=)	NC_000016.9:g.3639109C>A	(Likely) benign	1 lab	9aec546b07
9:107594898 ABCA1 T>C	9	107594898	107594898	T	C	ABCA1	c.1466A>G	NM_005502.4	NP_005493.2:p.(Asn489Ser)	NC_000009.11:g.107594898T>C	(Likely) benign	1 lab	9aecec5860
2:179393854 TTN G>A	2	179393854	179393854	G	A	TTN	c.106624C>T	NM_001267550.2	NP_001254479.2:p.(Gln35542Ter)	NC_000002.11:g.179393854G>A	(Likely) pathogenic	1 lab	9aefa47ff3
10:75873936 VCL C>T	10	75873936	75873936	C	T	VCL	c.2950-6C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75873936C>T	(Likely) benign	1 lab	9af11f9974
6:152647254 SYNE1 A>G	6	152647254	152647254	A	G	SYNE1	c.15081-17T>C	NM_033071.4	NP_149062.2:p.?	NC_000006.11:g.152647254A>G	(Likely) benign	1 lab	9af13929ce
18:48573268 SMAD4 CTT>C	18	48573268	48573280	CTT	C	SMAD4	c.-127-11_-127-10del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573279_48573280del	(Likely) benign	1 lab	9afc4fb99c
12:102025479 MYBPC1 C>T	12	102025479	102025479	C	T	MYBPC1	c.420C>T	NM_002465.4	NP_002456.2:p.(Thr140=)	NC_000012.11:g.102025479C>T	(Likely) benign	1 lab	9aff49e02b
2:74605346 DCTN1 C>T	2	74605346	74605346	C	T	DCTN1	c.60G>A	NM_004082.5	NP_004073.2:p.(Ala20=)	NC_000002.11:g.74605346C>T	(Likely) benign	1 lab	9b018b5073
X:9659750 TBL1X G>A	X	9659750	9659750	G	A	TBL1X	c.748G>A	NM_005647.4	NP_005638.1:p.(Gly250Arg)	NC_000023.10:g.9659750G>A	VUS	1 lab	9b0479b750
1:66102177 LEPR T>C	1	66102177	66102177	T	C	LEPR	c.2977T>C	NM_002303.6	NP_002294.2:p.(Ser993Pro)	NC_000001.10:g.66102177T>C	VUS	1 lab	9b05031322
X:153640410 TAFAZZIN C>T	X	153640410	153640410	C	T	TAFAZZIN	c.110-13C>T	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153640410C>T	(Likely) benign	1 lab	9b057aced3
1:167871297 ADCY10 G>A	1	167871297	167871297	G	A	ADCY10	c.-60-5C>T	NM_001297772.2	NP_001284701.1:p.?	NC_000001.10:g.167871297G>A	(Likely) benign	1 lab	9b09927533
11:47364356 MYBPC3 C>T	11	47364356	47364356	C	T	MYBPC3	c.1457+25G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364356C>T	(Likely) benign	1 lab	9b0c0c7d11
2:179400745 TTN C>T	2	179400745	179400745	C	T	TTN	c.100729G>A	NM_001267550.2	NP_001254479.2:p.(Gly33577Arg)	NC_000002.11:g.179400745C>T	VUS	1 lab	9b0c134a04
8:10467604 RP1L1 CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCG>C	8	10467604	10467672	CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCG	C	RP1L1	c.3956_4003del	NM_178857.6	NP_849188.4:p.(Ala1319_Glu1334del)	NC_000008.10:g.10467625_10467672del	(Likely) benign	1 lab	9b0cff28a6
17:39912130 JUP G>A	17	39912130	39912130	G	A	JUP	c.2104C>T	NM_001352773.2	NP_001339702.1:p.(Arg702Cys)	NC_000017.10:g.39912130G>A	VUS	1 lab	9b0dda6763
3:8787362 CAV3 G>A	3	8787362	8787362	G	A	CAV3	c.265G>A	NM_033337.3	NP_203123.1:p.(Gly89Ser)	NC_000003.11:g.8787362G>A	VUS	1 lab	9b11599465
12:21377713 SLCO1B1 G>T	12	21377713	21377713	G	T	SLCO1B1	c.1805G>T	NM_006446.5	NP_006437.3:p.(Trp602Leu)	NC_000012.11:g.21377713G>T	(Likely) benign	1 lab	9b13bb4d30
2:44040466 ABCG5 G>C	2	44040466	44040466	G	C	ABCG5	c.1763-18C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040466G>C	(Likely) benign	1 lab	9b14626f5f
1:55525143 PCSK9 C>T	1	55525143	55525143	C	T	PCSK9	c.1504-16C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525143C>T	(Likely) benign	1 lab	9b197bb50f
16:919011 LMF1 G>A	16	919011	919011	G	A	LMF1	c.1382C>T	NM_001352020.1	NP_001338949.1:p.(Pro461Leu)	NC_000016.9:g.919011G>A	VUS	1 lab	9b1a4b6c7c
3:38593208 SCN5A C>T	3	38593208	38593208	C	T	SCN5A	c.4814-159G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593208C>T	(Likely) benign	1 lab	9b1d4cc90e
12:2778214 CACNA1C G>A	12	2778214	2778214	G	A	CACNA1C	c.4870+13G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2778214G>A	(Likely) benign	1 lab	9b1f742c61
19:11222439 LDLR G>C	19	11222439	11222439	G	C	LDLR	c.1186+124G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222439G>C	VUS	1 lab	9b1fe2409e
2:179396661 TTN C>G	2	179396661	179396661	C	G	TTN	c.104681G>C	NM_001267550.2	NP_001254479.2:p.(Arg34894Thr)	NC_000002.11:g.179396661C>G	VUS	1 lab	9b223f5597
19:11218125 LDLR TG>T	19	11218125	11218127	TG	T	LDLR	c.877del	NM_000527.5	NP_000518.1:p.(Asp293ThrfsTer77)	NC_000019.9:g.11218127del	(Likely) pathogenic	1 lab	9b22f84902
3:132224127 DNAJC13 C>T	3	132224127	132224127	C	T	DNAJC13	c.4885-19C>T	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132224127C>T	(Likely) benign	1 lab	9b23207359
14:23871463 MYH6 C>G	14	23871463	23871463	C	G	MYH6	c.1141+210G>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23871463C>G	VUS	1 lab	9b27e3f1ea
11:45935689 PEX16 C>G	11	45935689	45935689	C	G	PEX16	c.760G>C	NM_004813.4	NP_004804.2:p.(Val254Leu)	NC_000011.9:g.45935689C>G	(Likely) benign	1 lab	9b2bea30e6
7:6384337 MISSING Ref too long to show for this DEL>A	7	6384337	6490387	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.6384338_6490387del	VUS	1 lab	9b2cf08018
4:110772987 LRIT3 G>A	4	110772987	110772987	G	A	LRIT3	c.444G>A	NM_198506.5	NP_940908.3:p.(Ala148=)	NC_000004.11:g.110772987G>A	(Likely) benign	1 lab	9b2e23ccbe
1:21894616 ALPL G>A	1	21894616	21894616	G	A	ALPL	c.668G>A	NM_000478.6	NP_000469.3:p.(Arg223Gln)	NC_000001.10:g.21894616G>A	(Likely) pathogenic	1 lab	9b30435e98
11:62381265 ROM1 G>A	11	62381265	62381265	G	A	ROM1	c.512G>A	NM_000327.4	NP_000318.2:p.(Arg171His)	NC_000011.9:g.62381265G>A	VUS	1 lab	9b33e0dd9d
5:127730845 FBN2 T>C	5	127730845	127730845	T	C	FBN2	c.1201A>G	NM_001999.4	NP_001990.2:p.(Ile401Val)	NC_000005.9:g.127730845T>C	VUS	1 lab	9b3bf18a03
2:179534279 TTN C>G	2	179534279	179534279	C	G	TTN	c.35470+40G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534279C>G	(Likely) benign	1 lab	9b3c22ea0d
15:48756438 FBN1 C>T	15	48756438	48756438	C	T	FBN1	c.4943-220G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756438C>T	(Likely) benign	1 lab	9b47db9e59
16:70505153 FCSK TG>T	16	70505153	70505155	TG	T	FCSK	c.1241del	NM_145059.3	NP_659496.2:p.(Gly414AlafsTer160)	NC_000016.9:g.70505155del	(Likely) pathogenic	1 lab	9b4cad293a
6:7580375 DSP A>G	6	7580375	7580375	A	G	DSP	c.3952A>G	NM_004415.4	NP_004406.2:p.(Lys1318Glu)	NC_000006.11:g.7580375A>G	VUS	1 lab	9b4e3117fa
5:92929292 NR2F1 C>T	5	92929292	92929292	C	T	NR2F1	c.1016C>T	NM_005654.6	NP_005645.1:p.(Ala339Val)	NC_000005.9:g.92929292C>T	(Likely) benign	1 lab	9b5465d2e3
2:179498213 TTN C>T	2	179498213	179498213	C	T	TTN	c.42873G>A	NM_001267550.2	NP_001254479.2:p.(Ala14291=)	NC_000002.11:g.179498213C>T	(Likely) benign	1 lab	9b5609360a
3:30686250 TGFBR2 A>G	3	30686250	30686250	A	G	TGFBR2	c.181A>G	NM_001024847.2	NP_001020018.1:p.(Met61Val)	NC_000003.11:g.30686250A>G	(Likely) benign	1 lab	9b5c6eb0d6
9:109690378 ZNF462 C>T	9	109690378	109690378	C	T	ZNF462	c.4185C>T	NM_021224.6	NP_067047.4:p.(Ala1395=)	NC_000009.11:g.109690378C>T	(Likely) benign	1 lab	9b5c76eac1
8:19811417 LPL C>T	8	19811417	19811417	C	T	LPL	c.542-214C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811417C>T	(Likely) benign	1 lab	9b61b51a32
1:55524601 PCSK9 G>A	1	55524601	55524601	G	A	PCSK9	c.1503+281G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524601G>A	(Likely) benign	1 lab	9b6205ac3c
5:178562961 ADAMTS2 C>T	5	178562961	178562961	C	T	ADAMTS2	c.2034G>A	NM_014244.5	NP_055059.2:p.(Thr678=)	NC_000005.9:g.178562961C>T	(Likely) benign	1 lab	9b8111f12d
20:35485711 MISSING Ref too long to show for this DEL>T	20	35485711	35500688	Ref too long to show for this DEL	T	MISSING				NC_000020.10:g.35485714_35500688del	VUS	1 lab	9b639411c1
16:81399001 GAN G>C	16	81399001	81399001	G	C	GAN	c.1420G>C	NM_022041.4	NP_071324.1:p.(Gly474Arg)	NC_000016.9:g.81399001G>C	(Likely) pathogenic	1 lab	9b65478777
18:5156097 MISSING Ref too long to show for this DEL>G	18	5156097	5478377	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.5156099_5478377del	VUS	1 lab	9b6a228d03
11:68700761 IGHMBP2 G>C	11	68700761	68700761	G	C	IGHMBP2	c.1236-6G>C	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68700761G>C	(Likely) benign	1 lab	9b6acd3cbb
4:114275249 ANK2 T>G	4	114275249	114275249	T	G	ANK2	c.5475T>G	NM_001148.6	NP_001139.3:p.(Pro1825=)	NC_000004.11:g.114275249T>G	(Likely) benign	1 lab	9b6ff96bc8
10:27702964 PTCHD3 G>A	10	27702964	27702964	G	A	PTCHD3	c.216C>T	NM_001034842.4	NP_001030014.2:p.(Asp72=)	NC_000010.10:g.27702964G>A	(Likely) benign	1 lab	9b70a733ff
2:24952434 NCOA1 T>C	2	24952434	24952434	T	C	NCOA1	c.2951T>C	NM_003743.5	NP_003734.3:p.(Met984Thr)	NC_000002.11:g.24952434T>C	VUS	1 lab	9b71f47f29
1:236921007 ACTN2 C>G	1	236921007	236921007	C	G	ACTN2	c.2301+75C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236921007C>G	(Likely) benign	1 lab	9b750e1451
15:100252709 MEF2A CCAGCAGCAGCAGCAG>C	15	100252709	100252743	CCAGCAGCAGCAGCAG	C	MEF2A	c.1247_1261del	NM_001171894.3	NP_001165365.1:p.(Gln416_Gln420del)	NC_000015.9:g.100252729_100252743del	(Likely) benign	1 lab	9b76a87217
6:32017173 TNXB G>C	6	32017173	32017173	G	C	TNXB	c.9625C>G	NM_019105.8	NP_061978.6:p.(Arg3209Gly)	NC_000006.11:g.32017173G>C	(Likely) benign	1 lab	9b7765b9bf
2:21224686 APOB C>T	2	21224686	21224686	C	T	APOB	c.13608G>A	NM_000384.3	NP_000375.3:p.(Thr4536=)	NC_000002.11:g.21224686C>T	VUS	1 lab	9b9bd56075
7:69404784 AUTS2 Ref too long to show for this DEL>A	7	69404784	69438072	Ref too long to show for this DEL	A	AUTS2	c.522+40304_522+73588del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69404788_69438072del	VUS	1 lab	9b7856271a
14:23224486 MISSING T>Alt too long to show for this DUP	14	23224486	23415360	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.23224489_23415360dup	VUS	1 lab	9b796d1d1d
15:73028367 BBS4 C>G	15	73028367	73028367	C	G	BBS4	c.1248+60C>G	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73028367C>G	(Likely) benign	1 lab	9b79d50848
20:62630947 PRPF6 C>T	20	62630947	62630947	C	T	PRPF6	c.867-9C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62630947C>T	(Likely) benign	1 lab	9b7b8a0eea
7:150645531 KCNH2 C>A	7	150645531	150645531	C	A	KCNH2	c.2692+1G>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645531C>A	(Likely) pathogenic	1 lab	9b7ccbbde2
20:22562482 FOXA2 G>A	20	22562482	22562482	G	A	FOXA2	c.*6C>T	NM_153675.3	NP_710141.1:p.?	NC_000020.10:g.22562482G>A	(Likely) benign	1 lab	9b7e514dd7
5:133948331 SAR1B TAAAAAAAA>T	5	133948331	133948371	TAAAAAAAA	T	SAR1B	c.244+42_244+49del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948364_133948371del	(Likely) benign	1 lab	9b7eac6622
X:153595272 MISSING C>Alt too long to show for this DUP	X	153595272	153836365	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153595275_153836365dup	(Likely) pathogenic	1 lab	9be4225970
17:48646346 CACNA1G A>AGTGTGTGT	17	48646346	48646376	A	AGTGTGTGT	CACNA1G	c.354+27_354+34dup	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646369_48646376dup	(Likely) benign	1 lab	9b818fc12c
15:22765625 MISSING Ref too long to show for this DEL>C	15	22765625	23179949	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22765629_23179949del	(Likely) pathogenic	1 lab	9b81deca5a
11:118343001 KMT2A T>TA	11	118343001	118343002	T	TA	KMT2A	c.1128dup	NM_001197104.2	NP_001184033.1:p.(Gln377ThrfsTer12)	NC_000011.9:g.118343002dup	(Likely) pathogenic	1 lab	9b81e5a170
4:17503323 QDPR T>C	4	17503323	17503323	T	C	QDPR	c.436+19A>G	NM_000320.3	NP_000311.2:p.?	NC_000004.11:g.17503323T>C	(Likely) benign	1 lab	9b83e50c65
20:41254344 PTPRT Ref too long to show for this DEL>G	20	41254344	41382284	Ref too long to show for this DEL	G	PTPRT	c.859+2820_1153+52161del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41254347_41382284del	VUS	1 lab	9b86670ba1
16:23646806 PALB2 G>T	16	23646806	23646806	G	T	PALB2	c.1061C>A	NM_024675.4	NP_078951.2:p.(Ser354Tyr)	NC_000016.9:g.23646806G>T	(Likely) benign	1 lab	9b86ea35fc
11:26512253 MISSING Ref too long to show for this DEL>G	11	26512253	26689110	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.26512254_26689110del	VUS	1 lab	9b88163bc0
2:44101133 ABCG8 T>A	2	44101133	44101133	T	A	ABCG8	c.1411+8T>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101133T>A	(Likely) benign	1 lab	9b8951eb14
5:138147913 CTNNA1 A>G	5	138147913	138147913	A	G	CTNNA1	c.510A>G	NM_001903.5	NP_001894.2:p.(Glu170=)	NC_000005.9:g.138147913A>G	(Likely) benign	1 lab	9b8a01327d
16:918787 LMF1 GGC>G	16	918787	918789	GGC	G	LMF1	c.1130+155_1130+156del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918788_918789del	(Likely) benign	1 lab	9b8beb39bd
6:107070811 RTN4IP1 C>T	6	107070811	107070811	C	T	RTN4IP1	c.308G>A	NM_032730.5	NP_116119.2:p.(Arg103His)	NC_000006.11:g.107070811C>T	(Likely) pathogenic	1 lab	9b91290a60
1:197396853 CRB1 A>G	1	197396853	197396853	A	G	CRB1	c.2191A>G	NM_001257965.2	NP_001244894.1:p.(Ile731Val)	NC_000001.10:g.197396853A>G	VUS	1 lab	9b97ab7e16
6:7578007 DSP T>C	6	7578007	7578007	T	C	DSP	c.2878-5T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578007T>C	(Likely) benign	1 lab	9b996044b9
1:180241155 LHX4 G>T	1	180241155	180241155	G	T	LHX4	c.778+14G>T	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180241155G>T	(Likely) benign	1 lab	9b99c89aee
20:57485117 GNAS C>T	20	57485117	57485117	C	T	GNAS	c.2880C>T	NM_080425.4	NP_536350.2:p.(Arg960=)	NC_000020.10:g.57485117C>T	(Likely) benign	1 lab	9b9cd77dba
15:85383468 ALPK3 GAT>G	15	85383468	85383470	GAT	G	ALPK3	c.959_960del	NM_020778.5	NP_065829.4:p.(Asp320GlyfsTer33)	NC_000015.9:g.85383469_85383470del	(Likely) pathogenic	1 lab	9baac42c1b
8:145865304 MISSING G>Alt too long to show for this DUP	8	145865304	146022332	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145865307_146022332dup	VUS	1 lab	9bab575bc9
1:63063730 ANGPTL3 A>G	1	63063730	63063730	A	G	ANGPTL3	c.493A>G	NM_014495.4	NP_055310.1:p.(Lys165Glu)	NC_000001.10:g.63063730A>G	VUS	1 lab	9bacd087d7
1:12009978 PLOD1 G>A	1	12009978	12009978	G	A	PLOD1	c.302+15G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12009978G>A	(Likely) benign	1 lab	9bb0f7baa1
18:77473127 CTDP1 C>T	18	77473127	77473127	C	T	CTDP1	c.1019C>T	NM_004715.5	NP_004706.3:p.(Thr340Met)	NC_000018.9:g.77473127C>T	(Likely) benign	1 lab	9bb1c84149
9:131013145 DNM1 G>A	9	131013145	131013145	G	A	DNM1	c.2460G>A	NM_001288738.2	NP_001275667.1:p.(Gly820=)	NC_000009.11:g.131013145G>A	VUS	1 lab	9bb4d273ae
9:107547806 ABCA1 G>A	9	107547806	107547806	G	A	ABCA1	c.6516C>T	NM_005502.4	NP_005493.2:p.(His2172=)	NC_000009.11:g.107547806G>A	(Likely) benign	1 lab	9bb7956a9d
6:169650812 THBS2 C>G	6	169650812	169650812	C	G	THBS2	c.52+16G>C	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169650812C>G	(Likely) benign	1 lab	9bb7a4059e
12:21331930 SLCO1B1 G>A	12	21331930	21331930	G	A	SLCO1B1	c.703G>A	NM_006446.5	NP_006437.3:p.(Val235Met)	NC_000012.11:g.21331930G>A	(Likely) benign	1 lab	9bb9ac897a
X:73749119 SLC16A2 C>T	X	73749119	73749119	C	T	SLC16A2	c.1242C>T	NM_006517.5	NP_006508.2:p.(Ile414=)	NC_000023.10:g.73749119C>T	(Likely) benign	1 lab	9bc01e4817
6:123703299 TRDN A>G	6	123703299	123703299	A	G	TRDN	c.1136-7T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123703299A>G	(Likely) benign	1 lab	9bc2faf308
5:180055864 FLT4 G>A	5	180055864	180055864	G	A	FLT4	c.1103+18C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180055864G>A	(Likely) benign	1 lab	9bc3702ecd
9:35067956 VCP A>G	9	35067956	35067956	A	G	VCP	c.234T>C	NM_007126.5	NP_009057.1:p.(Ser78=)	NC_000009.11:g.35067956A>G	(Likely) benign	1 lab	9bc53c4725
16:14031695 ERCC4 A>G	16	14031695	14031695	A	G	ERCC4	c.1884A>G	NM_005236.3	NP_005227.1:p.(Glu628=)	NC_000016.9:g.14031695A>G	(Likely) benign	1 lab	9bc5d9b9dc
2:220496974 SLC4A3 C>T	2	220496974	220496974	C	T	SLC4A3	c.1042-10C>T	NM_001326559.2	NP_001313488.2:p.?	NC_000002.11:g.220496974C>T	(Likely) benign	1 lab	9bdd3e1cbe
2:21265540 APOB T>C	2	21265540	21265540	T	C	APOB	c.122-192A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265540T>C	(Likely) benign	1 lab	9bde9d126d
5:82815989 VCAN T>C	5	82815989	82815989	T	C	VCAN	c.1864T>C	NM_004385.5	NP_004376.2:p.(Trp622Arg)	NC_000005.9:g.82815989T>C	(Likely) benign	1 lab	9bc663092d
9:107583722 ABCA1 C>T	9	107583722	107583722	C	T	ABCA1	c.2894G>A	NM_005502.4	NP_005493.2:p.(Arg965His)	NC_000009.11:g.107583722C>T	VUS	1 lab	9bca5f63fa
1:6529189 PLEKHG5 TCC>T	1	6529189	6529191	TCC	T	PLEKHG5	c.2160_2161del	NM_198681.4	NP_941374.3:p.(Glu721GlyfsTer64)	NC_000001.10:g.6529190_6529191del	(Likely) benign	1 lab	9bcbb5db01
11:47353899 MYBPC3 C>CG	11	47353899	47353905	C	CG	MYBPC3	c.3628-91dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353905dup	(Likely) benign	1 lab	9bce630ae0
14:21794020 RPGRIP1 G>A	14	21794020	21794020	G	A	RPGRIP1	c.2398G>A	NM_020366.4	NP_065099.3:p.(Glu800Lys)	NC_000014.8:g.21794020G>A	(Likely) pathogenic	1 lab	9bd43076f8
11:95615661 MTMR2 CTAAAA>C	11	95615661	95615699	CTAAAA	C	MTMR2	c.-153-6_-153-2del	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95615695_95615699del	(Likely) benign	1 lab	9bd5c1b6ac
16:89882966 FANCA T>C	16	89882966	89882966	T	C	FANCA	c.58A>G	NM_000135.4	NP_000126.2:p.(Arg20Gly)	NC_000016.9:g.89882966T>C	(Likely) benign	1 lab	9bd640fd87
8:10468321 RP1L1 C>T	8	10468321	10468321	C	T	RP1L1	c.3287G>A	NM_178857.6	NP_849188.4:p.(Arg1096Gln)	NC_000008.10:g.10468321C>T	VUS	1 lab	9bd807693f
12:122260428 SETD1B A>G	12	122260428	122260428	A	G	SETD1B	c.3943A>G	NM_001353345.2	NP_001340274.1:p.(Met1315Val)	NC_000012.11:g.122260428A>G	(Likely) benign	1 lab	9bd807c4ac
22:46482709 MISSING G>Alt too long to show for this DUP	22	46482709	46576422	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.46482710_46576422dup	VUS	1 lab	9ccb84b751
2:215593518 BARD1 T>C	2	215593518	215593518	T	C	BARD1	c.2216A>G	NM_000465.4	NP_000456.2:p.(Tyr739Cys)	NC_000002.11:g.215593518T>C	VUS	1 lab	9be0ce5886
9:114341237 PTGR1 T>A	9	114341237	114341237	T	A	PTGR1	c.496-6A>T	NM_001146108.2	NP_001139580.1:p.?	NC_000009.11:g.114341237T>A	(Likely) benign	1 lab	9be4529296
1:156846363 NTRK1 C>T	1	156846363	156846363	C	T	NTRK1	c.1804C>T	NM_002529.4	NP_002520.2:p.(Arg602Ter)	NC_000001.10:g.156846363C>T	(Likely) pathogenic	1 lab	9be8904c4f
5:162884088 NUDCD2 T>TA	5	162884088	162884098	T	TA	NUDCD2	c.239-3dup	NM_145266.6	NP_660309.1:p.?	NC_000005.9:g.162884098dup	(Likely) benign	1 lab	9be94b5a4a
17:45232109 CDC27 A>G	17	45232109	45232109	A	G	CDC27	c.886T>C	NM_001114091.4	NP_001107563.1:p.(Ser296Pro)	NC_000017.10:g.45232109A>G	(Likely) benign	1 lab	9be9e013d5
3:38646412 SCN5A G>A	3	38646412	38646412	G	A	SCN5A	c.1339-13C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38646412G>A	(Likely) benign	1 lab	9bebe7dfa1
16:942994 LMF1 A>G	16	942994	942994	A	G	LMF1	c.729+13T>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.942994A>G	(Likely) benign	1 lab	9bec165b83
21:38845098 DYRK1A TGA>T	21	38845098	38845100	TGA	T	DYRK1A	c.124_125del	NM_001347721.2	NP_001334650.1:p.(Asp42ProfsTer8)	NC_000021.8:g.38845099_38845100del	(Likely) pathogenic	1 lab	9bee1f34b3
17:48274418 COL1A1 G>A	17	48274418	48274418	G	A	COL1A1	c.757C>T	NM_000088.4	NP_000079.2:p.(Arg253Ter)	NC_000017.10:g.48274418G>A	(Likely) pathogenic	1 lab	9bf0121d52
8:94815880 TMEM67 C>T	8	94815880	94815880	C	T	TMEM67	c.2290C>T	NM_153704.6	NP_714915.3:p.(Arg764Ter)	NC_000008.10:g.94815880C>T	(Likely) pathogenic	1 lab	9bf0897800
2:21230787 APOB T>G	2	21230787	21230787	T	G	APOB	c.8953A>C	NM_000384.3	NP_000375.3:p.(Lys2985Gln)	NC_000002.11:g.21230787T>G	VUS	1 lab	9bf2663711
22:50656428 TUBGCP6 G>A	22	50656428	50656428	G	A	TUBGCP6	c.5287C>T	NM_020461.4	NP_065194.3:p.(Arg1763Trp)	NC_000022.10:g.50656428G>A	(Likely) benign	1 lab	9bf38b4e3b
22:38511595 PLA2G6 T>C	22	38511595	38511595	T	C	PLA2G6	c.1973A>G	NM_003560.4	NP_003551.2:p.(Asn658Ser)	NC_000022.10:g.38511595T>C	VUS	1 lab	9bfcdab90c
1:6534615 PLEKHG5 C>A	1	6534615	6534615	C	A	PLEKHG5	c.335G>T	NM_198681.4	NP_941374.3:p.(Gly112Val)	NC_000001.10:g.6534615C>A	VUS	1 lab	9c01579cfd
16:1005550 LMF1 G>A	16	1005550	1005550	G	A	LMF1	c.194-884C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1005550G>A	(Likely) benign	1 lab	9c02226f99
15:28326992 OCA2 C>T	15	28326992	28326992	C	T	OCA2	c.29G>A	NM_000275.3	NP_000266.2:p.(Arg10Gln)	NC_000015.9:g.28326992C>T	VUS	1 lab	9c0980e8b4
12:53465743 MISSING T>Alt too long to show for this DUP	12	53465743	53522494	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.53465744_53522494dup	VUS	1 lab	9c0fd419d7
11:93432817 CEP295 G>A	11	93432817	93432817	G	A	CEP295	c.4739G>A	NM_033395.2	NP_203753.1:p.(Arg1580His)	NC_000011.9:g.93432817G>A	(Likely) benign	1 lab	9c12bb129d
16:1001713 LMF1 G>A	16	1001713	1001713	G	A	LMF1	c.-52+2644C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1001713G>A	(Likely) benign	1 lab	9c146e3f3c
3:49759295 GMPPB C>CT	3	49759295	49759296	C	CT	GMPPB	c.1053dup	NM_013334.4	NP_037466.3:p.(Val352SerfsTer4)	NC_000003.11:g.49759296dup	(Likely) pathogenic	1 lab	9c15a5f44d
3:132401668 NPHP3 TA>T	3	132401668	132401676	TA	T	NPHP3	c.3697-7del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132401676del	(Likely) benign	1 lab	9c186f4b42
2:21251309 APOB AT>A	2	21251309	21251310	AT	A	APOB	c.1718del	NM_000384.3	NP_000375.3:p.(Asp573ValfsTer17)	NC_000002.11:g.21251310del	(Likely) pathogenic	1 lab	9c1a44e59d
1:235505966 GGPS1 G>A	1	235505966	235505966	G	A	GGPS1	c.782G>A	NM_001371478.1	NP_001358407.1:p.(Arg261His)	NC_000001.10:g.235505966G>A	(Likely) pathogenic	1 lab	9c21535627
17:48267345 COL1A1 A>C	17	48267345	48267345	A	C	COL1A1	c.2559+17T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267345A>C	(Likely) benign	1 lab	9c21bcd73d
7:73474272 ELN GTGGCTCCTGGAGTTGGCT>G	7	73474272	73474307	GTGGCTCCTGGAGTTGGCT	G	ELN	c.1489_1506del	NM_000501.4	NP_000492.2:p.(Leu497_Gly502del)	NC_000007.13:g.73474290_73474307del	VUS	1 lab	9c23162117
17:48267715 COL1A1 G>A	17	48267715	48267715	G	A	COL1A1	c.2424C>T	NM_000088.4	NP_000079.2:p.(Pro808=)	NC_000017.10:g.48267715G>A	(Likely) benign	1 lab	9c24236710
6:1908957 MISSING G>Alt too long to show for this DUP	6	1908957	2672557	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.1908959_2672557dup	VUS	1 lab	9c24fb29fa
19:11217341 LDLR C>T	19	11217341	11217341	C	T	LDLR	c.795C>T	NM_000527.5	NP_000518.1:p.(Ser265=)	NC_000019.9:g.11217341C>T	(Likely) benign	1 lab	9c260c7bfc
3:32207304 GPD1L AG>A	3	32207304	32207306	AG	A	GPD1L	c.960del	NM_015141.4	NP_055956.1:p.(Lys320AsnfsTer80)	NC_000003.11:g.32207306del	VUS	1 lab	9c272b5165
9:119460022 ASTN2 A>G	9	119460022	119460022	A	G	ASTN2	c.2806+28028T>C	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119460022A>G	VUS	1 lab	9c2fc64a5f
2:179478912 TTN G>A	2	179478912	179478912	G	A	TTN	c.41508C>T	NM_133378.4	NP_596869.4:p.(Thr13836=)	NC_000002.11:g.179478912G>A	(Likely) benign	1 lab	9c339ce2c5
2:21247827 APOB G>C	2	21247827	21247827	G	C	APOB	c.2414C>G	NM_000384.3	NP_000375.3:p.(Thr805Ser)	NC_000002.11:g.21247827G>C	(Likely) benign	1 lab	9c3420d9a1
1:150297334 PRPF3 CT>C	1	150297334	150297350	CT	C	PRPF3	c.-48-3del	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297350del	(Likely) benign	1 lab	9c3706aa8c
2:179613753 TTN A>G	2	179613753	179613753	A	G	TTN	c.13374T>C	NM_133379.5	NP_596870.2:p.(His4458=)	NC_000002.11:g.179613753A>G	(Likely) benign	1 lab	9c37d83a76
22:32210991 DEPDC5 C>T	22	32210991	32210991	C	T	DEPDC5	c.1459C>T	NM_001242896.3	NP_001229825.1:p.(Arg487Ter)	NC_000022.10:g.32210991C>T	(Likely) pathogenic	1 lab	9c38ab02bf
19:11200038 LDLR C>T	19	11200038	11200038	C	T	LDLR				NC_000019.9:g.11200038C>T	(Likely) pathogenic	1 lab	9c39800ae2
X:70444075 GJB1 G>A	X	70444075	70444075	G	A	GJB1	c.518G>A	NM_000166.6	NP_000157.1:p.(Cys173Tyr)	NC_000023.10:g.70444075G>A	VUS	1 lab	9c3a6d5e4c
12:125279769 SCARB1 G>T	12	125279769	125279769	G	T	SCARB1	c.1174C>A	NM_005505.5	NP_005496.4:p.(Leu392Ile)	NC_000012.11:g.125279769G>T	(Likely) pathogenic	1 lab	9c3ffbf6d5
11:86666139 FZD4 G>T	11	86666139	86666139	G	T	FZD4	c.-12C>A	NM_012193.4	NP_036325.2:p.?	NC_000011.9:g.86666139G>T	(Likely) benign	1 lab	9c401317dd
2:220078143 ABCB6 T>G	2	220078143	220078143	T	G	ABCB6	c.1719+18A>C	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220078143T>G	(Likely) benign	1 lab	9c40e33439
1:155657890 YY1AP1 A>G	1	155657890	155657890	A	G	YY1AP1	c.366T>C	NM_001198903.1	NP_001185832.1:p.(Cys122=)	NC_000001.10:g.155657890A>G	(Likely) benign	1 lab	9c450a289f
11:108165756 ATM C>G	11	108165756	108165756	C	G	ATM	c.4879C>G	NM_000051.4	NP_000042.3:p.(Gln1627Glu)	NC_000011.9:g.108165756C>G	VUS	1 lab	9c46be0320
19:49685938 TRPM4 C>A	19	49685938	49685938	C	A	TRPM4	c.1367C>A	NM_017636.4	NP_060106.2:p.(Thr456Asn)	NC_000019.9:g.49685938C>A	VUS	1 lab	9c46be37b3
7:152341246 MISSING Ref too long to show for this DEL>T	7	152341246	152397232	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.152341247_152397232del	VUS	1 lab	9c4787f9a4
17:41244699 BRCA1 G>A	17	41244699	41244699	G	A	BRCA1	c.2849C>T	NM_007294.4	NP_009225.1:p.(Ser950Phe)	NC_000017.10:g.41244699G>A	(Likely) benign	1 lab	9c49c16e9b
13:31821225 B3GLCT G>A	13	31821225	31821225	G	A	B3GLCT	c.336G>A	NM_194318.4	NP_919299.3:p.(Pro112=)	NC_000013.10:g.31821225G>A	(Likely) benign	1 lab	9c5cfb488e
10:54030945 PRKG1 T>C	10	54030945	54030945	T	C	PRKG1	c.1174-165T>C	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.54030945T>C	(Likely) benign	1 lab	9c4dce22e2
9:43626815 SPATA31A6 G>A	9	43626815	43626815	G	A	SPATA31A6	c.1872C>T	NM_001145196.1	NP_001138668.1:p.(Asp624=)	NC_000009.11:g.43626815G>A	(Likely) benign	1 lab	9c50388832
8:38287381 FGFR1 G>A	8	38287381	38287381	G	A	FGFR1	c.177C>T	NM_023110.3	NP_075598.2:p.(Asp59=)	NC_000008.10:g.38287381G>A	(Likely) benign	1 lab	9c54ec5cb3
7:27733169 MISSING T>Alt too long to show for this DUP	7	27733169	27779144	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.27733170_27779144dup	VUS	1 lab	9c5ace5b34
2:179594117 TTN G>A	2	179594117	179594117	G	A	TTN	c.18766C>T	NM_001267550.2	NP_001254479.2:p.(Leu6256Phe)	NC_000002.11:g.179594117G>A	VUS	1 lab	9c5b3d138d
15:48801080 FBN1 C>T	15	48801080	48801080	C	T	FBN1	c.1715-179G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48801080C>T	(Likely) benign	1 lab	9c5bb3f0f6
16:985891 LMF1 C>T	16	985891	985891	C	T	LMF1	c.-51-1637G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.985891C>T	(Likely) benign	1 lab	9c5c1b9324
9:107547217 ABCA1 G>A	9	107547217	107547217	G	A	ABCA1	c.6645+460C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547217G>A	(Likely) benign	1 lab	9c5eed989e
11:47362001 MYBPC3 A>G	11	47362001	47362001	A	G	MYBPC3	c.1927+553T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362001A>G	(Likely) benign	1 lab	9c6148b60b
12:19410474 PLEKHA5 A>AT	12	19410474	19410487	A	AT	PLEKHA5	c.537+16dup	NM_001143821.3	NP_001137293.2:p.?	NC_000012.11:g.19410487dup	(Likely) benign	1 lab	9c622d9d34
1:235973770 LYST T>C	1	235973770	235973770	T	C	LYST	c.348A>G	NM_001301365.1	NP_001288294.1:p.(Arg116=)	NC_000001.10:g.235973770T>C	(Likely) benign	1 lab	9c659337cc
15:22770421 MISSING A>Alt too long to show for this DUP	15	22770421	23082328	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770422_23082328dup	(Likely) benign	1 lab	9c66dba051
15:31073734 MISSING Ref too long to show for this DEL>A	15	31073734	32914239	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.31073735_32914239del	(Likely) pathogenic	1 lab	9c685d51e8
7:128481367 FLNC C>T	7	128481367	128481367	C	T	FLNC	c.1957C>T	NM_001458.5	NP_001449.3:p.(Pro653Ser)	NC_000007.13:g.128481367C>T	VUS	1 lab	9c74fe386f
1:55509693 PCSK9 G>A	1	55509693	55509693	G	A	PCSK9	c.385G>A	NM_174936.4	NP_777596.2:p.(Asp129Asn)	NC_000001.10:g.55509693G>A	(Likely) pathogenic	1 lab	9c752c568d
5:127625174 FBN2 G>A	5	127625174	127625174	G	A	FBN2	c.6512-230C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625174G>A	(Likely) benign	1 lab	9c75ff21be
9:107576724 ABCA1 C>T	9	107576724	107576724	C	T	ABCA1	c.3771G>A	NM_005502.4	NP_005493.2:p.(Val1257=)	NC_000009.11:g.107576724C>T	(Likely) benign	1 lab	9c7a5cd7f6
11:108214018 ATM CTTG>C	11	108214018	108214023	CTTG	C	ATM	c.8341_8343del	NM_000051.4	NP_000042.3:p.(Val2781del)	NC_000011.9:g.108214021_108214023del	VUS	1 lab	9c7a974dbf
12:33031584 PKP2 C>T	12	33031584	33031584	C	T	PKP2	c.337-107G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031584C>T	(Likely) benign	1 lab	9c7ec4f7c6
10:12154833 DHTKD1 C>T	10	12154833	12154833	C	T	DHTKD1	c.2155-66C>T	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12154833C>T	(Likely) benign	1 lab	9c7f4dac59
1:68910277 RPE65 G>A	1	68910277	68910277	G	A	RPE65	c.432C>T	NM_000329.3	NP_000320.1:p.(Tyr144=)	NC_000001.10:g.68910277G>A	(Likely) benign	1 lab	9c80671641
3:193081064 ATP13A5 G>A	3	193081064	193081064	G	A	ATP13A5	c.345C>T	NM_198505.4	NP_940907.2:p.(His115=)	NC_000003.11:g.193081064G>A	(Likely) benign	1 lab	9c849aa50b
11:47364395 MYBPC3 C>G	11	47364395	47364395	C	G	MYBPC3	c.1443G>C	NM_000256.3	NP_000247.2:p.(Gly481=)	NC_000011.9:g.47364395C>G	(Likely) benign	1 lab	9c861029f6
14:76438190 TGFB3 C>A	14	76438190	76438190	C	A	TGFB3	c.353-129G>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76438190C>A	(Likely) benign	1 lab	9c8611d7f0
16:81390529 GAN A>C	16	81390529	81390529	A	C	GAN	c.773A>C	NM_022041.4	NP_071324.1:p.(Gln258Pro)	NC_000016.9:g.81390529A>C	VUS	1 lab	9c88af1c25
11:47367958 MYBPC3 A>G	11	47367958	47367958	A	G	MYBPC3	c.927-37T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367958A>G	(Likely) benign	1 lab	9c8ab7c7bd
X:49113418 FOXP3 C>T	X	49113418	49113418	C	T	FOXP3	c.506G>A	NM_014009.4	NP_054728.2:p.(Cys169Tyr)	NC_000023.10:g.49113418C>T	VUS	1 lab	9c8c3ed822
19:35620788 MISSING A>Alt too long to show for this DUP	19	35620788	35650540	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.35620793_35650540dup	VUS	1 lab	9cccd3c7f7
3:148871401 HPS3 A>G	3	148871401	148871401	A	G	HPS3	c.1366A>G	NM_032383.5	NP_115759.2:p.(Ile456Val)	NC_000003.11:g.148871401A>G	(Likely) benign	1 lab	9c8e6df779
4:172989468 GALNTL6 Ref too long to show for this DEL>T	4	172989468	173068117	Ref too long to show for this DEL	T	GALNTL6	c.139-161338_139-82690del	NM_001034845.3	NP_001030017.2:p.?	NC_000004.11:g.172989469_173068117del	VUS	1 lab	9c9252d01a
22:21350114 LZTR1 C>T	22	21350114	21350114	C	T	LZTR1	c.2022C>T	NM_006767.4	NP_006758.2:p.(Asp674=)	NC_000022.10:g.21350114C>T	(Likely) benign	1 lab	9c949f047f
16:28885126 SH2B1 G>A	16	28885126	28885126	G	A	SH2B1	c.2256G>A	NM_001308293.2	NP_001295222.1:p.(Gln752=)	NC_000016.9:g.28885126G>A	(Likely) benign	1 lab	9c959c6e0f
2:1652132 PXDN C>T	2	1652132	1652132	C	T	PXDN	c.3420G>A	NM_012293.3	NP_036425.1:p.(Thr1140=)	NC_000002.11:g.1652132C>T	(Likely) benign	1 lab	9c9a79c4c8
3:53757498 CACNA1D C>T	3	53757498	53757498	C	T	CACNA1D	c.1764C>T	NM_000720.4	NP_000711.1:p.(Cys588=)	NC_000003.11:g.53757498C>T	(Likely) benign	1 lab	9c9ac2b9f7
15:73615833 HCN4 G>T	15	73615833	73615833	G	T	HCN4	c.2601C>A	NM_005477.3	NP_005468.1:p.(Ala867=)	NC_000015.9:g.73615833G>T	(Likely) benign	1 lab	9c9d84d80d
14:102898204 TECPR2 G>A	14	102898204	102898204	G	A	TECPR2	c.1156G>A	NM_014844.5	NP_055659.2:p.(Ala386Thr)	NC_000014.8:g.102898204G>A	(Likely) benign	1 lab	9c9de5c467
15:63340828 TPM1 G>A	15	63340828	63340828	G	A	TPM1	c.54G>A	NM_001365781.2	NP_001352710.1:p.(Gln18=)	NC_000015.9:g.63340828G>A	(Likely) benign	1 lab	9c9f4d2908
1:235543475 TBCE AT>A	1	235543475	235543477	AT	A	TBCE	c.100+13del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543477del	(Likely) benign	1 lab	9ca0924297
15:67473809 SMAD3 T>TCCCCCCCCCCCCCCCCCCC	15	67473809	67473814	T	TCCCCCCCCCCCCCCCCCCC	SMAD3	c.871+22_871+23insCCCCCCCCCCCCCCCCCCC	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473813_67473814insCCCCCCCCCCCCCCCCCCC	(Likely) benign	1 lab	9ca19415d9
2:105473259 POU3F3 C>G	2	105473259	105473259	C	G	POU3F3	c.1291C>G	NM_006236.3	NP_006227.1:p.(Pro431Ala)	NC_000002.11:g.105473259C>G	VUS	1 lab	9ca400a060
11:2604687 KCNQ1 A>G	11	2604687	2604687	A	G	KCNQ1	c.944A>G	NM_000218.3	NP_000209.2:p.(Tyr315Cys)	NC_000011.9:g.2604687A>G	(Likely) pathogenic	1 lab	9ca40edfb7
11:47359384 MYBPC3 G>A	11	47359384	47359384	G	A	MYBPC3	c.2309-39C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359384G>A	(Likely) benign	1 lab	9ca75f80b4
19:11200282 LDLR G>A	19	11200282	11200282	G	A	LDLR	c.58G>A	NM_000527.5	NP_000518.1:p.(Gly20Arg)	NC_000019.9:g.11200282G>A	(Likely) benign	1 lab	9ca947d88d
X:134293035 MISSING T>Alt too long to show for this DUP	X	134293035	134536801	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.134293036_134536801dup	VUS	1 lab	9caa1cb179
3:154861294 MME G>A	3	154861294	154861294	G	A	MME	c.1251G>A	NM_007289.4	NP_009220.2:p.(Gly417=)	NC_000003.11:g.154861294G>A	(Likely) benign	1 lab	9caab37681
15:44914151 SPG11 AT>A	15	44914151	44914164	AT	A	SPG11	c.2445-20del	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44914164del	(Likely) benign	1 lab	9cabe53fee
7:128482635 FLNC G>A	7	128482635	128482635	G	A	FLNC	c.2272G>A	NM_001458.5	NP_001449.3:p.(Val758Met)	NC_000007.13:g.128482635G>A	VUS	1 lab	9cad17c2cc
19:17999245 SLC5A5 C>G	19	17999245	17999245	C	G	SLC5A5	c.1632C>G	NM_000453.3	NP_000444.1:p.(Ala544=)	NC_000019.9:g.17999245C>G	(Likely) benign	1 lab	9caf6b8d1b
21:46876580 COL18A1 C>T	21	46876580	46876580	C	T	COL18A1	c.1136C>T	NM_130444.3	NP_569711.2:p.(Thr379Met)	NC_000021.8:g.46876580C>T	(Likely) benign	1 lab	9cb0b89f97
6:16145108 MYLIP T>A	6	16145108	16145108	T	A	MYLIP	c.828-20T>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16145108T>A	(Likely) benign	1 lab	9cb4b96943
1:55509502 PCSK9 T>G	1	55509502	55509502	T	G	PCSK9	c.208-14T>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509502T>G	(Likely) benign	1 lab	9cb4e776cb
15:44865735 SPG11 G>C	15	44865735	44865735	G	C	SPG11	c.6205+10C>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44865735G>C	(Likely) benign	1 lab	9cbaaad27f
11:26547193 ANO3 A>G	11	26547193	26547193	A	G	ANO3	c.887A>G	NM_001313726.2	NP_001300655.1:p.(Tyr296Cys)	NC_000011.9:g.26547193A>G	VUS	1 lab	9cbda89145
2:167060449 SCN1A-AS1 A>T	2	167060449	167060449	A	T	SCN1A-AS1	n.611+4121A>T	NR_110260.1		NC_000002.11:g.167060449A>T	(Likely) benign	1 lab	9cc0a7e630
X:135954456 RBMX A>G	X	135954456	135954456	A	G	RBMX				NC_000023.10:g.135954456A>G	VUS	1 lab	9cc2e41e2b
4:39271672 WDR19 C>T	4	39271672	39271672	C	T	WDR19	c.3435C>T	NM_025132.4	NP_079408.3:p.(Ser1145=)	NC_000004.11:g.39271672C>T	(Likely) benign	1 lab	9cc5133ee0
1:12058896 MFN2 T>A	1	12058896	12058896	T	A	MFN2	c.669T>A	NM_014874.4	NP_055689.1:p.(Phe223Leu)	NC_000001.10:g.12058896T>A	(Likely) pathogenic	1 lab	9cc572987f
5:178541024 ADAMTS2 G>T	5	178541024	178541024	G	T	ADAMTS2	c.3480C>A	NM_014244.5	NP_055059.2:p.(Ala1160=)	NC_000005.9:g.178541024G>T	(Likely) benign	1 lab	9cc73d1ff3
12:2786373 CACNA1C G>A	12	2786373	2786373	G	A	CACNA1C	c.5086G>A	NM_199460.4	NP_955630.3:p.(Ala1696Thr)	NC_000012.11:g.2786373G>A	(Likely) benign	1 lab	9cc8a66ab3
17:40693137 NAGLU G>A	17	40693137	40693137	G	A	NAGLU	c.934G>A	NM_000263.4	NP_000254.2:p.(Asp312Asn)	NC_000017.10:g.40693137G>A	(Likely) pathogenic	1 lab	9cc9d94f86
10:48389582 RBP3 C>T	10	48389582	48389582	C	T	RBP3	c.1296G>A	NM_002900.3	NP_002891.1:p.(Val432=)	NC_000010.10:g.48389582C>T	(Likely) benign	1 lab	9cc9e77f05
11:2799234 KCNQ1 G>A	11	2799234	2799234	G	A	KCNQ1	c.1761G>A	NM_000218.3	NP_000209.2:p.(Thr587=)	NC_000011.9:g.2799234G>A	(Likely) benign	1 lab	9ccea5307f
15:31073734 MISSING Ref too long to show for this DEL>A	15	31073734	32446830	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.31073735_32446830del	(Likely) pathogenic	1 lab	9cd2443721
15:58852788 LIPC G>A	15	58852788	58852788	G	A	LIPC	c.1052-275G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852788G>A	(Likely) benign	1 lab	9cd4098f36
6:32017550 TNXB G>A	6	32017550	32017550	G	A	TNXB	c.9434-186C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32017550G>A	(Likely) benign	1 lab	9cd58b9ec4
9:107562883 ABCA1 C>G	9	107562883	107562883	C	G	ABCA1	c.4699-18G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562883C>G	(Likely) benign	1 lab	9cd7eee43d
11:116708413 APOA1 C>T	11	116708413	116708413	C	T	APOA1	c.-396G>A	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116708413C>T	(Likely) benign	1 lab	9cd89e6390
1:168106645 GPR161 G>T	1	168106645	168106645	G	T	GPR161	c.15C>A	NM_001267614.1	NP_001254543.1:p.(Val5=)	NC_000001.10:g.168106645G>T	(Likely) benign	1 lab	9cded3255b
17:34171827 TAF15 C>T	17	34171827	34171827	C	T	TAF15	c.1524C>T	NM_139215.3	NP_631961.1:p.(Tyr508=)	NC_000017.10:g.34171827C>T	(Likely) benign	1 lab	9ce0270b38
19:11222482 LDLR C>T	19	11222482	11222482	C	T	LDLR	c.1186+167C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222482C>T	(Likely) benign	1 lab	9ce263a373
15:48788007 FBN1 A>G	15	48788007	48788007	A	G	FBN1	c.2420-222T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48788007A>G	(Likely) benign	1 lab	9ce78916b8
1:74834918 TNNI3K G>A	1	74834918	74834918	G	A	TNNI3K	c.1442G>A	NM_015978.3	NP_057062.1:p.(Arg481Gln)	NC_000001.10:g.74834918G>A	VUS	1 lab	9ce7b84067
19:11222324 LDLR G>A	19	11222324	11222324	G	A	LDLR	c.1186+9G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222324G>A	(Likely) benign	1 lab	9ceaa412bd
7:91630745 AKAP9 C>G	7	91630745	91630745	C	G	AKAP9	c.1514C>G	NM_005751.5	NP_005742.4:p.(Thr505Ser)	NC_000007.13:g.91630745C>G	(Likely) benign	1 lab	9ceb97934a
12:88478490 CEP290 T>A	12	88478490	88478490	T	A	CEP290	c.4577A>T	NM_025114.4	NP_079390.3:p.(Glu1526Val)	NC_000012.11:g.88478490T>A	VUS	1 lab	9cedf57a07
10:124221276 HTRA1 G>T	10	124221276	124221276	G	T	HTRA1	c.108G>T	NM_002775.5	NP_002766.1:p.(Gly36=)	NC_000010.10:g.124221276G>T	(Likely) benign	1 lab	9cef1e4838
2:25457190 DNMT3A G>A	2	25457190	25457190	G	A	DNMT3A	c.2697C>T	NM_022552.5	NP_072046.2:p.(Arg899=)	NC_000002.11:g.25457190G>A	(Likely) benign	1 lab	9cf0bf5230
17:44051814 MAPT C>T	17	44051814	44051814	C	T	MAPT	c.284C>T	NM_001123066.4	NP_001116538.2:p.(Thr95Met)	NC_000017.10:g.44051814C>T	VUS	1 lab	9cf2aea29c
20:61455823 COL9A3 C>T	20	61455823	61455823	C	T	COL9A3	c.546C>T	NM_001853.4	NP_001844.3:p.(Pro182=)	NC_000020.10:g.61455823C>T	(Likely) benign	1 lab	9cf4c004c3
12:125302107 SCARB1 G>T	12	125302107	125302107	G	T	SCARB1	c.273C>A	NM_005505.5	NP_005496.4:p.(Pro91=)	NC_000012.11:g.125302107G>T	(Likely) benign	1 lab	9cf5272c54
12:125284670 SCARB1 C>T	12	125284670	125284670	C	T	SCARB1	c.1128G>A	NM_005505.5	NP_005496.4:p.(Pro376=)	NC_000012.11:g.125284670C>T	VUS	1 lab	9cfaa15576
1:12056215 MFN2 C>T	1	12056215	12056215	C	T	MFN2	c.314C>T	NM_014874.4	NP_055689.1:p.(Thr105Met)	NC_000001.10:g.12056215C>T	(Likely) pathogenic	1 lab	9cfc21387f
3:52486217 TNNC1 A>AT	3	52486217	52486218	A	AT	TNNC1	c.106dup	NM_003280.3	NP_003271.1:p.(Ile36AsnfsTer20)	NC_000003.11:g.52486218dup	VUS	1 lab	9d3d7c2fa0
2:219676971 CYP27A1 G>A	2	219676971	219676971	G	A	CYP27A1	c.473G>A	NM_000784.4	NP_000775.1:p.(Arg158His)	NC_000002.11:g.219676971G>A	VUS	1 lab	9d1e76065b
11:108180870 ATM ATC>A	11	108180870	108180874	ATC	A	ATM	c.5763-14_5763-13del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108180873_108180874del	(Likely) benign	1 lab	9d03007463
8:53543090 RB1CC1 T>TA	8	53543090	53543105	T	TA	RB1CC1	c.4441-3dup	NM_014781.5	NP_055596.3:p.?	NC_000008.10:g.53543105dup	(Likely) benign	1 lab	9d03331509
15:65916949 SLC24A1 C>T	15	65916949	65916949	C	T	SLC24A1	c.531C>T	NM_004727.3	NP_004718.1:p.(Tyr177=)	NC_000015.9:g.65916949C>T	(Likely) benign	1 lab	9d03aa40d2
10:53400563 PRKG1 Ref too long to show for this DEL>T	10	53400563	53560500	Ref too long to show for this DEL	T	PRKG1	c.593-163781_593-3845del	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53400564_53560500del	VUS	1 lab	9d059a444c
2:21225161 APOB TG>T	2	21225161	21225163	TG	T	APOB	c.13132del	NM_000384.3	NP_000375.3:p.(His4378IlefsTer16)	NC_000002.11:g.21225163del	(Likely) pathogenic	1 lab	9d062b3460
2:179550318 TTN T>C	2	179550318	179550318	T	C	TTN	c.32319A>G	NM_001267550.2	NP_001254479.2:p.(Glu10773=)	NC_000002.11:g.179550318T>C	(Likely) benign	1 lab	9d06a5cb49
9:35685270 TPM2 C>T	9	35685270	35685270	C	T	TPM2	c.559G>A	NM_003289.4	NP_003280.2:p.(Glu187Lys)	NC_000009.11:g.35685270C>T	(Likely) pathogenic	1 lab	9d0725ac23
X:144333322 MISSING A>Alt too long to show for this DUP	X	144333322	144732953	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.144333323_144732953dup	VUS	1 lab	9d080bfae3
7:94039844 COL1A2 G>C	7	94039844	94039844	G	C	COL1A2	c.1197+5G>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94039844G>C	(Likely) pathogenic	1 lab	9d157596b7
1:21889779 ALPL T>TGGTC	1	21889779	21889781	T	TGGTC	ALPL	c.472+3_472+4insGTCG	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21889780_21889781insGTCG	(Likely) benign	1 lab	9d172bc881
12:112036780 ATXN2 TGTTGCTGCTGC>T	12	112036780	112036791	TGTTGCTGCTGC	T	ATXN2	c.48_58del	NM_001372574.1	NP_001359503.1:p.(Gln17AlafsTer69)	NC_000012.11:g.112036781_112036791del	(Likely) benign	1 lab	9d17d5baaa
17:36486406 GPR179 C>G	17	36486406	36486406	C	G	GPR179	c.3046G>C	NM_001004334.4	NP_001004334.3:p.(Glu1016Gln)	NC_000017.10:g.36486406C>G	VUS	1 lab	9d18a4f76a
10:67468724 MISSING Ref too long to show for this DEL>G	10	67468724	67963753	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.67468728_67963753del	VUS	1 lab	9d1aabd353
10:90983427 LIPA A>G	10	90983427	90983427	A	G	LIPA	c.822+14T>C	NM_001127605.3	NP_001121077.1:p.?	NC_000010.10:g.90983427A>G	(Likely) benign	1 lab	9d2617d53e
2:179610656 TTN T>G	2	179610656	179610656	T	G	TTN	c.16471A>C	NM_133379.5	NP_596870.2:p.(Met5491Leu)	NC_000002.11:g.179610656T>G	(Likely) benign	1 lab	9d2a611064
11:68201316 LRP5 T>A	11	68201316	68201316	T	A	LRP5	c.4000+10T>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68201316T>A	(Likely) benign	1 lab	9d2d468104
12:21330022 SLCO1B1 G>A	12	21330022	21330022	G	A	SLCO1B1	c.481+191G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21330022G>A	(Likely) benign	1 lab	9d2e2be0b4
9:111641825 ELP1 G>A	9	111641825	111641825	G	A	ELP1	c.3473C>T	NM_003640.5	NP_003631.2:p.(Pro1158Leu)	NC_000009.11:g.111641825G>A	(Likely) benign	1 lab	9d324be293
7:150655505 KCNH2 G>A	7	150655505	150655505	G	A	KCNH2	c.558C>T	NM_000238.4	NP_000229.1:p.(Gly186=)	NC_000007.13:g.150655505G>A	(Likely) benign	1 lab	9d329ba087
7:30634519 GARS1 A>C	7	30634519	30634519	A	C	GARS1	c.-181A>C	NM_001316772.1	NP_001303701.1:p.?	NC_000007.13:g.30634519A>C	(Likely) benign	1 lab	9d3679b84d
1:52632040 MISSING Ref too long to show for this DEL>G	1	52632040	52861690	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.52632042_52861690del	(Likely) pathogenic	1 lab	9d394ebf90
7:30066002 FKBP14 C>T	7	30066002	30066002	C	T	FKBP14	c.123G>A	NM_017946.4	NP_060416.1:p.(Lys41=)	NC_000007.13:g.30066002C>T	(Likely) benign	1 lab	9d3b2264e4
5:133956738 SAR1B T>C	5	133956738	133956738	T	C	SAR1B	c.63A>G	NM_001033503.3	NP_001028675.1:p.(Leu21=)	NC_000005.9:g.133956738T>C	(Likely) benign	1 lab	9d3cd1ca59
17:41276017 BRCA1 C>G	17	41276017	41276017	C	G	BRCA1	c.80+17G>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276017C>G	(Likely) benign	1 lab	9d40769b4b
12:54675155 HNRNPA1 C>T	12	54675155	54675155	C	T	HNRNPA1	c.16-15C>T	NM_031157.4	NP_112420.1:p.?	NC_000012.11:g.54675155C>T	(Likely) benign	1 lab	9d42007a60
7:99703607 AP4M1 T>C	7	99703607	99703607	T	C	AP4M1	c.955T>C	NM_004722.4	NP_004713.2:p.(Cys319Arg)	NC_000007.13:g.99703607T>C	(Likely) pathogenic	1 lab	9d470c6016
2:179464066 TTN T>G	2	179464066	179464066	T	G	TTN	c.56454A>C	NM_001267550.2	NP_001254479.2:p.(Thr18818=)	NC_000002.11:g.179464066T>G	(Likely) benign	1 lab	9d47d564e2
5:157161810 MISSING T>Alt too long to show for this DUP	5	157161810	157204557	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.157161813_157204557dup	VUS	1 lab	9d48589ed2
10:67744404 CTNNA3 T>Alt too long to show for this DUP	10	67744404	67780110	T	Alt too long to show for this DUP	CTNNA3	c.2160-31553_2265+4045dup	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67744407_67780110dup	VUS	1 lab	9d4dc554e3
12:21353506 SLCO1B1 G>A	12	21353506	21353506	G	A	SLCO1B1	c.1035G>A	NM_006446.5	NP_006437.3:p.(Thr345=)	NC_000012.11:g.21353506G>A	(Likely) benign	1 lab	9d4f976fcf
5:1278745 TERT G>A	5	1278745	1278745	G	A	TERT	c.2286+11C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1278745G>A	(Likely) benign	1 lab	9d529bf09f
12:30823833 IPO8 C>G	12	30823833	30823833	C	G	IPO8	c.1044+63G>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30823833C>G	(Likely) benign	1 lab	9d5545583a
2:179578108 TTN TACAAAACAAA>T	2	179578108	179578139	TACAAAACAAA	T	TTN	c.26762-19_26762-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578130_179578139del	(Likely) benign	1 lab	9d55d189a3
4:106158189 TET2 G>A	4	106158189	106158189	G	A	TET2	c.3090G>A	NM_001127208.3	NP_001120680.1:p.(Gln1030=)	NC_000004.11:g.106158189G>A	(Likely) benign	1 lab	9d5fa8061b
10:61958119 ANK3 C>T	10	61958119	61958119	C	T	ANK3	c.1668G>A	NM_020987.5	NP_066267.2:p.(Ala556=)	NC_000010.10:g.61958119C>T	(Likely) benign	1 lab	9d60011cf7
10:73437219 CDH23 G>A	10	73437219	73437219	G	A	CDH23	c.1521G>A	NM_022124.6	NP_071407.4:p.(Ser507=)	NC_000010.10:g.73437219G>A	(Likely) benign	1 lab	9d62feb7e7
19:43433868 PSG7 C>T	19	43433868	43433868	C	T	PSG7	c.435G>A	NM_002783.3	NP_002774.2:p.(Glu145=)	NC_000019.9:g.43433868C>T	(Likely) benign	1 lab	9d646fcc8f
10:73468862 CDH23 C>T	10	73468862	73468862	C	T	CDH23	c.3114C>T	NM_022124.6	NP_071407.4:p.(Asn1038=)	NC_000010.10:g.73468862C>T	(Likely) benign	1 lab	9d64e922cd
12:122268040 SETD1B C>T	12	122268040	122268040	C	T	SETD1B	c.5796C>T	NM_001353345.2	NP_001340274.1:p.(His1932=)	NC_000012.11:g.122268040C>T	(Likely) benign	1 lab	9d680317c3
2:179583269 TTN T>C	2	179583269	179583269	T	C	TTN	c.24564A>G	NM_001267550.2	NP_001254479.2:p.(Ile8188Met)	NC_000002.11:g.179583269T>C	VUS	1 lab	9d685afe75
15:55897326 MISSING T>Alt too long to show for this DUP	15	55897326	55966703	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.55897327_55966703dup	VUS	1 lab	9d6b893c94
11:65651494 FIBP C>G	11	65651494	65651494	C	G	FIBP	c.1046G>C	NM_198897.2	NP_942600.1:p.(Arg349Pro)	NC_000011.9:g.65651494C>G	VUS	1 lab	9d6c87a4f1
1:218578627 TGFB2 C>T	1	218578627	218578627	C	T	TGFB2	c.547C>T	NM_001135599.4	NP_001129071.1:p.(Gln183Ter)	NC_000001.10:g.218578627C>T	(Likely) pathogenic	1 lab	9d7356c5c5
19:11216238 LDLR G>A	19	11216238	11216238	G	A	LDLR	c.656G>A	NM_000527.5	NP_000518.1:p.(Gly219Asp)	NC_000019.9:g.11216238G>A	(Likely) benign	1 lab	9d762bb822
16:89985976 MC1R G>A	16	89985976	89985976	G	A	MC1R	c.310G>A	NM_002386.4	NP_002377.4:p.(Gly104Ser)	NC_000016.9:g.89985976G>A	VUS	1 lab	9da06e5e00
18:34320627 FHOD3 A>C	18	34320627	34320627	A	C	FHOD3	c.3060A>C	NM_025135.5	NP_079411.2:p.(Leu1020=)	NC_000018.9:g.34320627A>C	(Likely) benign	1 lab	9d7a2d13b1
X:130411147 IGSF1 CA>C	X	130411147	130411148	CA	C	IGSF1	c.2388del	NM_001170961.2	NP_001164432.1:p.(Gly797ValfsTer4)	NC_000023.10:g.130411148del	(Likely) pathogenic	1 lab	9d7a9bbe55
10:126683132 CTBP2 A>T	10	126683132	126683132	A	T	CTBP2	c.2306T>A	NM_022802.3	NP_073713.2:p.(Leu769Gln)	NC_000010.10:g.126683132A>T	(Likely) benign	1 lab	9d7d293252
2:44102370 ABCG8 T>G	2	44102370	44102370	T	G	ABCG8	c.1574T>G	NM_022437.3	NP_071882.1:p.(Leu525Arg)	NC_000002.11:g.44102370T>G	VUS	1 lab	9d7e8efbd6
7:81943693 CACNA2D1 Ref too long to show for this DEL>G	7	81943693	82018944	Ref too long to show for this DEL	G	CACNA2D1	c.96-39979_294+20757del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81943694_82018944del	VUS	1 lab	9d7f00a43c
16:920709 LMF1 C>T	16	920709	920709	C	T	LMF1	c.833+20G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920709C>T	(Likely) benign	1 lab	9d824837a1
X:12734264 FRMPD4 C>T	X	12734264	12734264	C	T	FRMPD4	c.1686C>T	NM_014728.3	NP_055543.2:p.(Gly562=)	NC_000023.10:g.12734264C>T	(Likely) benign	1 lab	9d82b04f56
6:56480548 DST G>A	6	56480548	56480548	G	A	DST	c.7717C>T	NM_001723.7	NP_001714.1:p.(Arg2573Trp)	NC_000006.11:g.56480548G>A	VUS	1 lab	9d8364a159
3:193355052 OPA1 G>A	3	193355052	193355052	G	A	OPA1	c.1017G>A	NM_130837.3	NP_570850.2:p.(Thr339=)	NC_000003.11:g.193355052G>A	(Likely) benign	1 lab	9d84900666
6:7569037 DSP T>G	6	7569037	7569037	T	G	DSP	c.1419+215T>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7569037T>G	(Likely) benign	1 lab	9db75a24d7
19:36211509 KMT2B T>C	19	36211509	36211509	T	C	KMT2B	c.1260T>C	NM_014727.3	NP_055542.1:p.(Pro420=)	NC_000019.9:g.36211509T>C	(Likely) benign	1 lab	9d85594733
16:88789574 PIEZO1 C>A	16	88789574	88789574	C	A	PIEZO1	c.4439-15G>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88789574C>A	(Likely) benign	1 lab	9d8c5befe3
6:75865636 COL12A1 T>C	6	75865636	75865636	T	C	COL12A1	c.3251-66A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75865636T>C	(Likely) benign	1 lab	9d8ddcfa07
15:58852789 LIPC T>G	15	58852789	58852789	T	G	LIPC	c.1052-274T>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852789T>G	(Likely) benign	1 lab	9da82e1b29
1:64097420 PGM1 C>T	1	64097420	64097420	C	T	PGM1	c.703C>T	NM_001172818.1	NP_001166289.1:p.(Arg235Ter)	NC_000001.10:g.64097420C>T	(Likely) pathogenic	1 lab	9d921dcca3
3:38639684 SCN5A A>T	3	38639684	38639684	A	T	SCN5A	c.2024-226T>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38639684A>T	(Likely) benign	1 lab	9d97b00c8a
11:61244654 MISSING Ref too long to show for this DEL>C	11	61244654	61256215	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.61244656_61256215del	VUS	1 lab	9d99069fba
6:56484543 DST G>A	6	56484543	56484543	G	A	DST	c.4289C>T	NM_001723.7	NP_001714.1:p.(Ala1430Val)	NC_000006.11:g.56484543G>A	(Likely) benign	1 lab	9d99cca63e
12:21329996 SLCO1B1 A>T	12	21329996	21329996	A	T	SLCO1B1	c.481+165A>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329996A>T	(Likely) benign	1 lab	9d9cbec917
1:55521850 PCSK9 C>T	1	55521850	55521850	C	T	PCSK9	c.984C>T	NM_174936.4	NP_777596.2:p.(Ala328=)	NC_000001.10:g.55521850C>T	(Likely) benign	1 lab	9d9d62dca6
1:156108451 LMNA G>A	1	156108451	156108451	G	A	LMNA	c.1871G>A	NM_170707.4	NP_733821.1:p.(Arg624His)	NC_000001.10:g.156108451G>A	VUS	1 lab	9da415e9fc
8:144295767 GPIHBP1 A>G	8	144295767	144295767	A	G	GPIHBP1	c.123A>G	NM_178172.6	NP_835466.2:p.(Glu41=)	NC_000008.10:g.144295767A>G	(Likely) benign	1 lab	9dac09f331
3:141327438 RASA2 A>T	3	141327438	141327438	A	T	RASA2	c.2136A>T	NM_001303246.3	NP_001290175.1:p.(Gln712His)	NC_000003.11:g.141327438A>T	(Likely) benign	1 lab	9dac54694f
4:44700615 GUF1 A>G	4	44700615	44700615	A	G	GUF1	c.955A>G	NM_001345867.2	NP_001332796.1:p.(Lys319Glu)	NC_000004.11:g.44700615A>G	VUS	1 lab	9dacc6eb51
2:179452458 TTN C>T	2	179452458	179452458	C	T	TTN	c.63578G>A	NM_001267550.2	NP_001254479.2:p.(Arg21193His)	NC_000002.11:g.179452458C>T	VUS	1 lab	9db009e1dc
1:74808643 TNNI3K A>G	1	74808643	74808643	A	G	TNNI3K	c.800A>G	NM_015978.3	NP_057062.1:p.(Asn267Ser)	NC_000001.10:g.74808643A>G	VUS	1 lab	9db2f4e3c3
16:88501891 ZNF469 C>T	16	88501891	88501891	C	T	ZNF469	c.8013C>T	NM_001367624.2	NP_001354553.1:p.(Tyr2671=)	NC_000016.9:g.88501891C>T	(Likely) benign	1 lab	9db31f9035
8:145623951 CPSF1 G>A	8	145623951	145623951	G	A	CPSF1	c.1716C>T	NM_013291.3	NP_037423.2:p.(His572=)	NC_000008.10:g.145623951G>A	(Likely) benign	1 lab	9db508b5c2
1:218609412 TGFB2 A>G	1	218609412	218609412	A	G	TGFB2	c.939A>G	NM_001135599.4	NP_001129071.1:p.(Leu313=)	NC_000001.10:g.218609412A>G	(Likely) benign	1 lab	9dbdbe6e94
2:44064993 ABCG5 A>G	2	44064993	44064993	A	G	ABCG5	c.245T>C	NM_022436.3	NP_071881.1:p.(Met82Thr)	NC_000002.11:g.44064993A>G	(Likely) pathogenic	1 lab	9dbfcc5fef
2:24929905 NCOA1 A>T	2	24929905	24929905	A	T	NCOA1	c.1566A>T	NM_003743.5	NP_003734.3:p.(Thr522=)	NC_000002.11:g.24929905A>T	(Likely) benign	1 lab	9dc157b437
19:10091541 COL5A3 C>CA	19	10091541	10091551	C	CA	COL5A3	c.2506-7dup	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10091551dup	(Likely) benign	1 lab	9dc20e0038
19:33792681 CEBPA C>T	19	33792681	33792681	C	T	CEBPA	c.640G>A	NM_004364.5	NP_004355.2:p.(Gly214Ser)	NC_000019.9:g.33792681C>T	(Likely) benign	1 lab	9dc5a2e769
1:103471845 COL11A1 AG>A	1	103471845	103471850	AG	A	COL11A1	c.1745del	NM_080629.3	NP_542196.2:p.(Pro582LeufsTer63)	NC_000001.10:g.103471850del	VUS	1 lab	9dc767440a
22:31354679 MORC2 T>C	22	31354679	31354679	T	C	MORC2	c.70A>G	NM_001303256.3	NP_001290185.1:p.(Thr24Ala)	NC_000022.10:g.31354679T>C	(Likely) pathogenic	1 lab	9dc822a555
15:45426373 DUOX1 G>A	15	45426373	45426373	G	A	DUOX1	c.173G>A	NM_017434.5	NP_059130.2:p.(Ser58Asn)	NC_000015.9:g.45426373G>A	(Likely) benign	1 lab	9dc8d1a703
10:461681 DIP2C Ref too long to show for this DEL>A	10	461681	682584	Ref too long to show for this DEL	A	DIP2C	c.85+52851_859+27del	NM_014974.3	NP_055789.1:p.?	NC_000010.10:g.461683_682584del	VUS	1 lab	9dd86c842e
6:56495196 DST T>C	6	56495196	56495196	T	C	DST	c.4044-15A>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56495196T>C	(Likely) benign	1 lab	9ddf996448
7:74247994 GTF2IRD2 C>T	7	74247994	74247994	C	T	GTF2IRD2	c.172G>A	NM_173537.5	NP_775808.4:p.(Gly58Arg)	NC_000007.13:g.74247994C>T	VUS	1 lab	9de183967b
19:40519572 ZNF546 A>T	19	40519572	40519572	A	T	ZNF546	c.395A>T	NM_178544.5	NP_848639.2:p.(Asp132Val)	NC_000019.9:g.40519572A>T	(Likely) benign	1 lab	9de500c4b6
11:75283062 SERPINH1 C>T	11	75283062	75283062	C	T	SERPINH1	c.1191C>T	NM_001235.5	NP_001226.2:p.(Ser397=)	NC_000011.9:g.75283062C>T	(Likely) benign	1 lab	9de6a84d70
12:57906143 MARS1 A>G	12	57906143	57906143	A	G	MARS1	c.1753+7A>G	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57906143A>G	(Likely) benign	1 lab	9de8feeb34
13:20717001 GJA3 C>T	13	20717001	20717001	C	T	GJA3	c.427G>A	NM_021954.4	NP_068773.2:p.(Gly143Arg)	NC_000013.10:g.20717001C>T	(Likely) pathogenic	1 lab	9deabaece9
20:62069978 KCNQ2 C>A	20	62069978	62069978	C	A	KCNQ2	c.1023G>T	NM_172107.4	NP_742105.1:p.(Gln341His)	NC_000020.10:g.62069978C>A	(Likely) pathogenic	1 lab	9debbb01e5
4:146560383 MMAA G>A	4	146560383	146560383	G	A	MMAA	c.92G>A	NM_172250.3	NP_758454.1:p.(Ser31Asn)	NC_000004.11:g.146560383G>A	(Likely) benign	1 lab	9dee15c1b2
10:95418780 PDE6C T>C	10	95418780	95418780	T	C	PDE6C	c.2144+15T>C	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95418780T>C	(Likely) benign	1 lab	9deed0d926
17:17700278 RAI1 C>G	17	17700278	17700278	C	G	RAI1	c.4016C>G	NM_030665.4	NP_109590.3:p.(Pro1339Arg)	NC_000017.10:g.17700278C>G	VUS	1 lab	9deeef8387
5:147817926 FBXO38 G>C	5	147817926	147817926	G	C	FBXO38	c.2889G>C	NM_205836.3	NP_995308.1:p.(Lys963Asn)	NC_000005.9:g.147817926G>C	(Likely) benign	1 lab	9df62ed571
14:45623930 FANCM G>A	14	45623930	45623930	G	A	FANCM	c.1214G>A	NM_020937.4	NP_065988.1:p.(Arg405Gln)	NC_000014.8:g.45623930G>A	VUS	1 lab	9df6e1b290
10:101295199 NKX2-3 GGCC>G	10	101295199	101295228	GGCC	G	NKX2-3	c.843_845del	NM_145285.3	NP_660328.2:p.(Ala286del)	NC_000010.10:g.101295226_101295228del	(Likely) benign	1 lab	9df7fb49ac
10:71124643 HK1 A>G	10	71124643	71124643	A	G	HK1	c.585A>G	NM_001322365.2	NP_001309294.1:p.(Gln195=)	NC_000010.10:g.71124643A>G	(Likely) benign	1 lab	9df8dbd436
15:67462999 SMAD3 T>C	15	67462999	67462999	T	C	SMAD3	c.658+57T>C	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67462999T>C	(Likely) benign	1 lab	9dfad07cb2
18:21124907 NPC1 A>ACCCCCCCCCC	18	21124907	21124917	A	ACCCCCCCCCC	NPC1	c.1947+16_1947+17insGGGGGGGGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916_21124917insCCCCCCCCCC	(Likely) benign	1 lab	9dfbbd19bb
2:47403674 CALM2 G>T	2	47403674	47403674	G	T	CALM2	c.7C>A	NM_001305624.1	NP_001292553.1:p.(Arg3Ser)	NC_000002.11:g.47403674G>T	(Likely) benign	1 lab	9e02c5770d
1:201331151 TNNT2 C>T	1	201331151	201331151	C	T	TNNT2	c.580-1G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331151C>T	VUS	1 lab	9e04a196eb
7:128657995 TNPO3 G>A	7	128657995	128657995	G	A	TNPO3	c.321+16C>T	NM_012470.4	NP_036602.1:p.?	NC_000007.13:g.128657995G>A	(Likely) benign	1 lab	9e05265730
6:66258552 MISSING Ref too long to show for this DEL>T	6	66258552	67236643	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.66258553_67236643del	VUS	1 lab	9e08cc5da2
11:27406950 LGR4 C>T	11	27406950	27406950	C	T	LGR4	c.467G>A	NM_018490.5	NP_060960.2:p.(Arg156Gln)	NC_000011.9:g.27406950C>T	(Likely) benign	1 lab	9e0c245ffd
12:47233158 MISSING T>Alt too long to show for this DUP	12	47233158	47493346	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.47233160_47493346dup	VUS	1 lab	9e1070b561
2:179428640 TTN TG>T	2	179428640	179428641	TG	T	TTN	c.82218del	NM_001267550.2	NP_001254479.2:p.(Ile27407LeufsTer41)	NC_000002.11:g.179428641del	(Likely) pathogenic	1 lab	9e11ebfee5
2:73830390 ALMS1 C>T	2	73830390	73830390	C	T	ALMS1	c.12324C>T	NM_015120.4	NP_055935.4:p.(Asn4108=)	NC_000002.11:g.73830390C>T	(Likely) benign	1 lab	9e1377c71b
9:3937133 GLIS3 C>A	9	3937133	3937133	C	A	GLIS3	c.1767G>T	NM_001042413.2	NP_001035878.1:p.(Arg589=)	NC_000009.11:g.3937133C>A	(Likely) benign	1 lab	9e1788e735
17:7099528 DLG4 AAGCCTCTGACCTGATGT>A	17	7099528	7099547	AAGCCTCTGACCTGATGT	A	DLG4	c.1424_1430+10del	NM_001365.4	NP_001356.1:p.?	NC_000017.10:g.7099531_7099547del	(Likely) pathogenic	1 lab	9e180fcd6c
2:179592342 TTN C>T	2	179592342	179592342	C	T	TTN	c.19963G>A	NM_001267550.2	NP_001254479.2:p.(Asp6655Asn)	NC_000002.11:g.179592342C>T	VUS	1 lab	9e1923dd7b
3:58154327 FLNB C>T	3	58154327	58154327	C	T	FLNB	c.7452C>T	NM_001164317.2	NP_001157789.1:p.(Ser2484=)	NC_000003.11:g.58154327C>T	(Likely) benign	1 lab	9e194282e7
2:179465893 TTN G>A	2	179465893	179465893	G	A	TTN	c.48034C>T	NM_133378.4	NP_596869.4:p.(Pro16012Ser)	NC_000002.11:g.179465893G>A	(Likely) benign	1 lab	9e1ded1160
19:13365977 CACNA1A C>A	19	13365977	13365977	C	A	CACNA1A	c.4699G>T	NM_023035.3	NP_075461.2:p.(Val1567Leu)	NC_000019.9:g.13365977C>A	VUS	1 lab	9e1f90d683
1:144621555 NBPF9 A>G	1	144621555	144621555	A	G	NBPF9	c.887=	NM_001037675.3	NP_001032764.2:p.(Arg296=)	NC_000001.10:g.144621555A>G	(Likely) benign	1 lab	9e85f161eb
2:169994021 LRP2 AAG>A	2	169994021	169994044	AAG	A	LRP2	c.13519-20_13519-19del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.169994043_169994044del	(Likely) benign	1 lab	9e2858cf4b
11:18322386 HPS5 C>G	11	18322386	18322386	C	G	HPS5	c.974G>C	NM_181507.2	NP_852608.1:p.(Ser325Thr)	NC_000011.9:g.18322386C>G	VUS	1 lab	9e29546c8e
17:15539404 TRIM16 G>A	17	15539404	15539404	G	A	TRIM16	c.795C>T	NM_001348119.1	NP_001335048.1:p.(Ser265=)	NC_000017.10:g.15539404G>A	(Likely) benign	1 lab	9e2ba3db0a
1:13414059 MISSING C>T	1	13414059	13414059	C	T	MISSING				NC_000001.10:g.13414059C>T	(Likely) benign	1 lab	9e335bfe92
11:102207640 BIRC3 ATC>A	11	102207640	102207643	ATC	A	BIRC3	c.1624_1625del	NM_001165.5	NP_001156.1:p.(Leu542ThrfsTer16)	NC_000011.9:g.102207642_102207643del	(Likely) pathogenic	1 lab	9e33f61968
16:56368726 GNAO1 G>A	16	56368726	56368726	G	A	GNAO1	c.550G>A	NM_138736.3	NP_620073.2:p.(Gly184Ser)	NC_000016.9:g.56368726G>A	(Likely) pathogenic	1 lab	9e358e0bd3
17:2233930 TSR1 A>C	17	2233930	2233930	A	C	TSR1	c.1660-11T>G	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2233930A>C	(Likely) benign	1 lab	9f587481de
6:56499073 DST A>G	6	56499073	56499073	A	G	DST	c.3396-17T>C	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56499073A>G	(Likely) benign	1 lab	9e3ee50d90
6:56327849 DST C>T	6	56327849	56327849	C	T	DST	c.16636G>A	NM_001144769.5	NP_001138241.1:p.(Ala5546Thr)	NC_000006.11:g.56327849C>T	(Likely) benign	1 lab	9e3fc02e05
19:10428444 RAVER1 G>A	19	10428444	10428444	G	A	RAVER1	c.1995C>T	NM_133452.3	NP_597709.3:p.(Ile665=)	NC_000019.9:g.10428444G>A	(Likely) benign	1 lab	9e4043e7ea
9:107551180 ABCA1 C>T	9	107551180	107551180	C	T	ABCA1	c.5928-332G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107551180C>T	(Likely) benign	1 lab	9e4576ca18
5:140723980 PCDHGA1 A>Alt too long to show for this DUP	5	140723980	140751177	A	Alt too long to show for this DUP	PCDHGA1	c.2421+11312_2421+38505dup	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140723984_140751177dup	VUS	1 lab	9e4592f186
9:107560821 ABCA1 C>T	9	107560821	107560821	C	T	ABCA1	c.5002G>A	NM_005502.4	NP_005493.2:p.(Val1668Ile)	NC_000009.11:g.107560821C>T	VUS	1 lab	9e467b52f3
7:74197714 MISSING Ref too long to show for this DEL>T	7	74197714	74209678	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.74197715_74209678del	VUS	1 lab	9e4848902b
5:179103709 MISSING Ref too long to show for this DEL>T	5	179103709	179120812	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.179103713_179120812del	VUS	1 lab	9e4c888c3d
18:47110066 LIPG A>G	18	47110066	47110066	A	G	LIPG	c.1298A>G	NM_006033.4	NP_006024.1:p.(Tyr433Cys)	NC_000018.9:g.47110066A>G	VUS	1 lab	9f8596ecd7
22:40055833 CACNA1I C>G	22	40055833	40055833	C	G	CACNA1I	c.2580C>G	NM_021096.4	NP_066919.2:p.(Ile860Met)	NC_000022.10:g.40055833C>G	(Likely) pathogenic	1 lab	9e4e699b54
7:70236627 AUTS2 G>C	7	70236627	70236627	G	C	AUTS2	c.1827G>C	NM_001127231.3	NP_001120703.1:p.(Pro609=)	NC_000007.13:g.70236627G>C	(Likely) benign	1 lab	9e4ec29836
11:47353673 MYBPC3 G>C	11	47353673	47353673	G	C	MYBPC3	c.3764C>G	NM_000256.3	NP_000247.2:p.(Ala1255Gly)	NC_000011.9:g.47353673G>C	VUS	1 lab	9e537374a3
8:19816808 LPL T>C	8	19816808	19816808	T	C	LPL	c.1056T>C	NM_000237.3	NP_000228.1:p.(Thr352=)	NC_000008.10:g.19816808T>C	(Likely) benign	1 lab	9e55659c50
4:172989504 GALNTL6 A>Alt too long to show for this DUP	4	172989504	173228428	A	Alt too long to show for this DUP	GALNTL6	c.139-161301_248-4337dup	NM_001034845.3	NP_001030017.2:p.?	NC_000004.11:g.172989506_173228428dup	VUS	1 lab	9e55d2d5d5
1:55527323 PCSK9 G>A	1	55527323	55527323	G	A	PCSK9	c.1863+94G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527323G>A	(Likely) benign	1 lab	9e56f61cfa
21:45751845 CFAP410 A>G	21	45751845	45751845	A	G	CFAP410	c.426T>C	NM_001271441.2	NP_001258370.1:p.(Thr142=)	NC_000021.8:g.45751845A>G	(Likely) benign	1 lab	9e5f03b5e8
8:68076719 CSPP1 A>G	8	68076719	68076719	A	G	CSPP1	c.1754A>G	NM_001291339.2	NP_001278268.1:p.(Asp585Gly)	NC_000008.10:g.68076719A>G	(Likely) benign	1 lab	9e5fe97fc9
2:179419254 TTN C>G	2	179419254	179419254	C	G	TTN	c.81116G>C	NM_133378.4	NP_596869.4:p.(Arg27039Pro)	NC_000002.11:g.179419254C>G	VUS	1 lab	9e6204af5f
19:11227613 LDLR G>A	19	11227613	11227613	G	A	LDLR	c.1784G>A	NM_000527.5	NP_000518.1:p.(Arg595Gln)	NC_000019.9:g.11227613G>A	(Likely) pathogenic	1 lab	9e6557934f
16:15812411 MYH11 G>C	16	15812411	15812411	G	C	MYH11	c.5172-116C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15812411G>C	(Likely) benign	1 lab	9e6680f36f
5:16475360 RETREG1 A>G	5	16475360	16475360	A	G	RETREG1	c.1001-17T>C	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16475360A>G	(Likely) benign	1 lab	9e66ab74e6
11:47355127 MYBPC3 C>T	11	47355127	47355127	C	T	MYBPC3	c.3171G>A	NM_000256.3	NP_000247.2:p.(Thr1057=)	NC_000011.9:g.47355127C>T	(Likely) benign	1 lab	9e6c97a8b6
11:119148890 CBL ATAC>A	11	119148890	119148894	ATAC	A	CBL	c.1112_1114del	NM_005188.4	NP_005179.2:p.(Tyr371del)	NC_000011.9:g.119148892_119148894del	(Likely) pathogenic	1 lab	9e6d34c1d9
16:88495575 ZNF469 C>T	16	88495575	88495575	C	T	ZNF469	c.1697C>T	NM_001367624.2	NP_001354553.1:p.(Ala566Val)	NC_000016.9:g.88495575C>T	(Likely) benign	1 lab	9e6fc12339
17:56700372 TEX14 G>A	17	56700372	56700372	G	A	TEX14	c.253C>T	NM_001201457.2	NP_001188386.1:p.(Arg85Cys)	NC_000017.10:g.56700372G>A	VUS	1 lab	9e7231363a
17:61464067 MISSING Ref too long to show for this DEL>A	17	61464067	61602581	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.61464069_61602581del	VUS	1 lab	9e764f3917
9:4959147 MISSING Ref too long to show for this DEL>T	9	4959147	5150977	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.4959148_5150977del	VUS	1 lab	9e766a7d27
16:57016160 CETP G>A	16	57016160	57016160	G	A	CETP	c.1321+11G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57016160G>A	(Likely) benign	1 lab	9e767810c7
7:116199152 CAV1 C>T	7	116199152	116199152	C	T	CAV1	c.348C>T	NM_001753.5	NP_001744.2:p.(Gly116=)	NC_000007.13:g.116199152C>T	(Likely) benign	1 lab	9e77bc3c04
20:10639288 JAG1 C>T	20	10639288	10639288	C	T	JAG1	c.522G>A	NM_000214.3	NP_000205.1:p.(Thr174=)	NC_000020.10:g.10639288C>T	(Likely) benign	1 lab	9e7c7cd524
2:179407088 TTN G>A	2	179407088	179407088	G	A	TTN	c.97395C>T	NM_001267550.2	NP_001254479.2:p.(Thr32465=)	NC_000002.11:g.179407088G>A	(Likely) benign	1 lab	9e7f3f4c06
7:128486811 FLNC C>T	7	128486811	128486811	C	T	FLNC	c.4140C>T	NM_001458.5	NP_001449.3:p.(Thr1380=)	NC_000007.13:g.128486811C>T	(Likely) benign	1 lab	9e83a6547c
13:103492133 BIVM-ERCC5 C>T	13	103492133	103492133	C	T	BIVM-ERCC5	c.1430C>T	NM_001204425.2	NP_001191354.2:p.(Ser477Leu)	NC_000013.10:g.103492133C>T	(Likely) benign	1 lab	9e85e37957
1:156105884 LMNA C>A	1	156105884	156105884	C	A	LMNA	c.1129C>A	NM_170707.4	NP_733821.1:p.(Arg377Ser)	NC_000001.10:g.156105884C>A	(Likely) pathogenic	1 lab	9e860b0846
5:10260888 CCT5 G>T	5	10260888	10260888	G	T	CCT5	c.709-16G>T	NM_001306154.2	NP_001293083.1:p.?	NC_000005.9:g.10260888G>T	(Likely) benign	1 lab	9e87bbdc29
22:51001750 MISSING Ref too long to show for this DEL>G	22	51001750	51197838	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.51001752_51197838del	(Likely) pathogenic	1 lab	9e902bcaf3
17:63221580 RGS9 G>C	17	63221580	63221580	G	C	RGS9	c.1868G>C	NM_003835.4	NP_003826.2:p.(Arg623Pro)	NC_000017.10:g.63221580G>C	VUS	1 lab	9e90957ded
X:70444079 GJB1 C>CA	X	70444079	70444081	C	CA	GJB1	c.524dup	NM_000166.6	NP_000157.1:p.(Asn175LysfsTer68)	NC_000023.10:g.70444081dup	(Likely) pathogenic	1 lab	9e91e71f4d
7:128486395 FLNC G>C	7	128486395	128486395	G	C	FLNC	c.4005G>C	NM_001458.5	NP_001449.3:p.(Val1335=)	NC_000007.13:g.128486395G>C	(Likely) benign	1 lab	9e95f69680
2:179418446 TTN C>T	2	179418446	179418446	C	T	TTN	c.81582G>A	NM_133378.4	NP_596869.4:p.(Gly27194=)	NC_000002.11:g.179418446C>T	(Likely) benign	1 lab	9e9a71fc03
12:30813979 IPO8 C>T	12	30813979	30813979	C	T	IPO8	c.1881+96G>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30813979C>T	(Likely) benign	1 lab	9e9bd30584
1:10436626 KIF1B C>T	1	10436626	10436626	C	T	KIF1B	c.5294C>T	NM_015074.3	NP_055889.2:p.(Pro1765Leu)	NC_000001.10:g.10436626C>T	(Likely) benign	1 lab	9e9c8895f2
11:116706880 APOA1 G>A	11	116706880	116706880	G	A	APOA1	c.448C>T	NM_000039.3	NP_000030.1:p.(Leu150Phe)	NC_000011.9:g.116706880G>A	VUS	1 lab	9ea0a9a5df
15:55497690 RAB27A Ref too long to show for this DEL>C	15	55497690	55501868	Ref too long to show for this DEL	C	RAB27A	c.468-3965_*14del	NM_183235.3	NP_899058.1:p.?	NC_000015.9:g.55497691_55501868del	VUS	1 lab	9ea3215659
11:47367931 MYBPC3 G>A	11	47367931	47367931	G	A	MYBPC3	c.927-10C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367931G>A	(Likely) benign	1 lab	9ea3a4a07a
16:81942153 PLCG2 C>T	16	81942153	81942153	C	T	PLCG2	c.1690C>T	NM_002661.5	NP_002652.2:p.(Arg564Trp)	NC_000016.9:g.81942153C>T	VUS	1 lab	9ea4ac7f71
2:179545862 TTN A>AT	2	179545862	179545868	A	AT	TTN	c.33283dup	NM_001267550.2	NP_001254479.2:p.(Ile11095AsnfsTer9)	NC_000002.11:g.179545868dup	VUS	1 lab	9eb26cbde5
11:47360356 MYBPC3 G>A	11	47360356	47360356	G	A	MYBPC3	c.2149-126C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360356G>A	(Likely) benign	1 lab	9eb365b8c7
5:138261033 CTNNA1 C>T	5	138261033	138261033	C	T	CTNNA1	c.1836C>T	NM_001903.5	NP_001894.2:p.(Ile612=)	NC_000005.9:g.138261033C>T	(Likely) benign	1 lab	9eb4732cb0
2:25384256 POMC G>A	2	25384256	25384256	G	A	POMC	c.498C>T	NM_001035256.3	NP_001030333.1:p.(Asp166=)	NC_000002.11:g.25384256G>A	(Likely) benign	1 lab	9eb4795073
1:64676467 UBE2U AC>A	1	64676467	64676470	AC	A	UBE2U	c.287del	NM_152489.3	NP_689702.1:p.(Pro96LeufsTer10)	NC_000001.10:g.64676470del	VUS	1 lab	9eb4e85769
19:10100061 COL5A3 C>A	19	10100061	10100061	C	A	COL5A3	c.2047-19G>T	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10100061C>A	(Likely) benign	1 lab	9eb670bc88
4:100485269 MTTP G>T	4	100485269	100485269	G	T	MTTP	c.17G>T	NM_001300785.1	NP_001287714.1:p.(Gly6Val)	NC_000004.11:g.100485269G>T	VUS	1 lab	9eb7259e78
17:41243582 BRCA1 T>C	17	41243582	41243582	T	C	BRCA1	c.3966A>G	NM_007294.4	NP_009225.1:p.(Lys1322=)	NC_000017.10:g.41243582T>C	(Likely) benign	1 lab	9ebbdb9840
3:14173129 TMEM43 G>A	3	14173129	14173129	G	A	TMEM43	c.347G>A	NM_024334.3	NP_077310.1:p.(Arg116Gln)	NC_000003.11:g.14173129G>A	VUS	1 lab	9ebeea604a
19:19257933 BORCS8-MEF2B G>T	19	19257933	19257933	G	T	BORCS8-MEF2B	c.453C>A	NM_005919.4	NP_005910.1:p.(Gly151=)	NC_000019.9:g.19257933G>T	(Likely) benign	1 lab	9ebfbfbcb9
2:85768513 MAT2A G>T	2	85768513	85768513	G	T	MAT2A	c.292+13G>T	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85768513G>T	(Likely) benign	1 lab	9ec18490e5
12:124341740 DNAH10 C>T	12	124341740	124341740	C	T	DNAH10	c.6222C>T	NM_207437.3	NP_997320.2:p.(Asn2074=)	NC_000012.11:g.124341740C>T	(Likely) benign	1 lab	9ec20f62e6
11:17428277 ABCC8 C>A	11	17428277	17428277	C	A	ABCC8	c.3287G>T	NM_001351295.2	NP_001338224.1:p.(Gly1096Val)	NC_000011.9:g.17428277C>A	VUS	1 lab	9ec3b9918e
3:195507494 MUC4 C>T	3	195507494	195507494	C	T	MUC4	c.10957G>A	NM_018406.7	NP_060876.5:p.(Asp3653Asn)	NC_000003.11:g.195507494C>T	(Likely) benign	1 lab	9ec3c9670c
7:124464129 POT1 C>G	7	124464129	124464129	C	G	POT1	c.1793-1G>C	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124464129C>G	VUS	1 lab	9ec8c39b36
2:44064784 ABCG5 G>A	2	44064784	44064784	G	A	ABCG5	c.265+189C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44064784G>A	(Likely) benign	1 lab	9ec9d32c8e
1:152080890 TCHH T>C	1	152080890	152080890	T	C	TCHH	c.4803A>G	NM_007113.4	NP_009044.2:p.(Glu1601=)	NC_000001.10:g.152080890T>C	(Likely) benign	1 lab	9ecb392b09
X:100608201 BTK A>G	X	100608201	100608201	A	G	BTK	c.1991T>C	NM_001287344.2	NP_001274273.1:p.(Met664Thr)	NC_000023.10:g.100608201A>G	(Likely) pathogenic	1 lab	9ecc7e112c
7:94038863 COL1A2 C>G	7	94038863	94038863	C	G	COL1A2	c.892-13C>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038863C>G	(Likely) benign	1 lab	9ecfe2a024
6:157100471 ARID1B GCCGCGGGC>G	6	157100471	157100479	GCCGCGGGC	G	ARID1B	c.1658_1665del	NM_001371656.1	NP_001358585.1:p.(Ala553AspfsTer62)	NC_000006.11:g.157100472_157100479del	(Likely) pathogenic	1 lab	9ed0c89cc4
2:179604766 TTN T>C	2	179604766	179604766	T	C	TTN	c.13194A>G	NM_001267550.2	NP_001254479.2:p.(Gln4398=)	NC_000002.11:g.179604766T>C	(Likely) benign	1 lab	9ed126b8ce
1:235952052 LYST G>A	1	235952052	235952052	G	A	LYST	c.4637C>T	NM_001301365.1	NP_001288294.1:p.(Ala1546Val)	NC_000001.10:g.235952052G>A	(Likely) benign	1 lab	9ed2fcb710
2:44051128 ABCG5 G>C	2	44051128	44051128	G	C	ABCG5	c.1248C>G	NM_022436.3	NP_071881.1:p.(Ile416Met)	NC_000002.11:g.44051128G>C	VUS	1 lab	9ed3778fd3
11:47370565 MYBPC3 A>T	11	47370565	47370565	A	T	MYBPC3	c.655-473T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370565A>T	(Likely) benign	1 lab	9ed69db24f
9:135204943 SETX T>C	9	135204943	135204943	T	C	SETX	c.2042A>G	NM_015046.7	NP_055861.3:p.(Asp681Gly)	NC_000009.11:g.135204943T>C	(Likely) benign	1 lab	9ed7582f51
22:26864537 HPS4 G>A	22	26864537	26864537	G	A	HPS4	c.649C>T	NM_022081.6	NP_071364.4:p.(Arg217Ter)	NC_000022.10:g.26864537G>A	(Likely) pathogenic	1 lab	9ed9ead620
8:61774815 CHD7 C>T	8	61774815	61774815	C	T	CHD7	c.7891C>T	NM_017780.4	NP_060250.2:p.(Arg2631Ter)	NC_000008.10:g.61774815C>T	(Likely) pathogenic	1 lab	9edd23d0e1
6:45390502 RUNX2 TGCG>T	6	45390502	45390519	TGCG	T	RUNX2	c.246_248del	NM_001024630.4	NP_001019801.3:p.(Ala89del)	NC_000006.11:g.45390517_45390519del	(Likely) benign	1 lab	9ee0dfdaa1
2:179474029 TTN G>C	2	179474029	179474029	G	C	TTN	c.52008C>G	NM_001267550.2	NP_001254479.2:p.(Val17336=)	NC_000002.11:g.179474029G>C	(Likely) benign	1 lab	9ee33194c9
22:26860567 HPS4 G>A	22	26860567	26860567	G	A	HPS4	c.1029C>T	NM_022081.6	NP_071364.4:p.(Asn343=)	NC_000022.10:g.26860567G>A	(Likely) benign	1 lab	9ee4564d4f
4:22517306 ADGRA3 G>T	4	22517306	22517306	G	T	ADGRA3	c.102C>A	NM_145290.4	NP_660333.2:p.(Gly34=)	NC_000004.11:g.22517306G>T	(Likely) benign	1 lab	9ee47f250a
22:21114637 MISSING Ref too long to show for this DEL>A	22	21114637	21307949	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21114638_21307949del	(Likely) pathogenic	1 lab	9eec003cdd
17:7916588 GUCY2D G>A	17	7916588	7916588	G	A	GUCY2D	c.2263+18G>A	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7916588G>A	(Likely) benign	1 lab	9eeea14f89
17:44623731 LRRC37A2 C>T	17	44623731	44623731	C	T	LRRC37A2	c.3164C>T	NM_001006607.2	NP_001006608.2:p.(Thr1055Ile)	NC_000017.10:g.44623731C>T	(Likely) benign	1 lab	9ef10faf8a
1:150530548 ADAMTSL4 C>G	1	150530548	150530548	C	G	ADAMTSL4	c.2305C>G	NM_019032.6	NP_061905.2:p.(Leu769Val)	NC_000001.10:g.150530548C>G	(Likely) benign	1 lab	9ef4a07405
16:69155070 CHTF8 C>T	16	69155070	69155070	C	T	CHTF8	c.27G>A	NM_001039690.5	NP_001034779.1:p.(Ala9=)	NC_000016.9:g.69155070C>T	(Likely) benign	1 lab	9ef5835b7c
7:92732731 SAMD9 T>C	7	92732731	92732731	T	C	SAMD9	c.2680A>G	NM_017654.4	NP_060124.2:p.(Lys894Glu)	NC_000007.13:g.92732731T>C	(Likely) benign	1 lab	9ef742794a
4:15981054 PROM1 T>A	4	15981054	15981054	T	A	PROM1	c.2546A>T	NM_006017.3	NP_006008.1:p.(Asp849Val)	NC_000004.11:g.15981054T>A	VUS	1 lab	9efb303358
2:17018 MISSING Ref too long to show for this DEL>A	2	17018	2486807	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.17019_2486807del	(Likely) pathogenic	1 lab	9efd66bcb3
14:23871742 MYH6 T>G	14	23871742	23871742	T	G	MYH6	c.1072A>C	NM_002471.4	NP_002462.2:p.(Met358Leu)	NC_000014.8:g.23871742T>G	VUS	1 lab	9efdbfc547
3:3170737 TRNT1 C>T	3	3170737	3170737	C	T	TRNT1	c.13C>T	NM_001367321.1	NP_001354250.1:p.(Leu5=)	NC_000003.11:g.3170737C>T	(Likely) benign	1 lab	9f01a92693
7:91652179 AKAP9 A>AAAC	7	91652179	91652181	A	AAAC	AKAP9	c.4005_4006insACA	NM_005751.5	NP_005742.4:p.(Lys1335_Leu1336insThr)	NC_000007.13:g.91652180_91652181insACA	(Likely) benign	1 lab	9f02b248d0
2:234243750 SAG G>A	2	234243750	234243750	G	A	SAG	c.944+5G>A	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234243750G>A	VUS	1 lab	9f03fb032e
20:10620819 JAG1 C>T	20	10620819	10620819	C	T	JAG1	c.3200-216G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10620819C>T	(Likely) benign	1 lab	9f058968da
15:48780494 FBN1 C>T	15	48780494	48780494	C	T	FBN1	c.3209-56G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780494C>T	(Likely) benign	1 lab	9f06585faa
2:179475102 TTN A>G	2	179475102	179475102	A	G	TTN	c.51151T>C	NM_001267550.2	NP_001254479.2:p.(Cys17051Arg)	NC_000002.11:g.179475102A>G	VUS	1 lab	9f083ce15c
14:55369316 GCH1 G>A	14	55369316	55369316	G	A	GCH1	c.66C>T	NM_000161.3	NP_000152.1:p.(Phe22=)	NC_000014.8:g.55369316G>A	(Likely) benign	1 lab	9f0c262cbb
4:22394242 ADGRA3 G>A	4	22394242	22394242	G	A	ADGRA3	c.2553C>T	NM_145290.4	NP_660333.2:p.(Tyr851=)	NC_000004.11:g.22394242G>A	(Likely) benign	1 lab	9f0ca3ef20
19:11223982 LDLR C>A	19	11223982	11223982	C	A	LDLR	c.1215C>A	NM_000527.5	NP_000518.1:p.(Asn405Lys)	NC_000019.9:g.11223982C>A	VUS	1 lab	9f0dde965d
7:151478273 PRKAG2 G>A	7	151478273	151478273	G	A	PRKAG2	c.431C>T	NM_016203.4	NP_057287.2:p.(Pro144Leu)	NC_000007.13:g.151478273G>A	VUS	1 lab	9f133bd2d0
2:179587011 TTN A>C	2	179587011	179587011	A	C	TTN	c.22503T>G	NM_001267550.2	NP_001254479.2:p.(Ser7501=)	NC_000002.11:g.179587011A>C	(Likely) benign	1 lab	9f16c43f61
16:57007321 CETP A>G	16	57007321	57007321	A	G	CETP	c.829A>G	NM_000078.3	NP_000069.2:p.(Met277Val)	NC_000016.9:g.57007321A>G	VUS	1 lab	9f1b5dbdc5
3:50655190 MAPKAPK3 G>T	3	50655190	50655190	G	T	MAPKAPK3	c.194G>T	NM_001243926.2	NP_001230855.1:p.(Arg65Leu)	NC_000003.11:g.50655190G>T	(Likely) benign	1 lab	9f1c1e1d6d
14:76437840 TGFB3 T>C	14	76437840	76437840	T	C	TGFB3	c.516+58A>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76437840T>C	(Likely) benign	1 lab	9f1d8baf8a
22:46768811 CELSR1 G>A	22	46768811	46768811	G	A	CELSR1	c.7728C>T	NM_001378328.1	NP_001365257.1:p.(Val2576=)	NC_000022.10:g.46768811G>A	(Likely) benign	1 lab	9f2711e35e
17:48271303 COL1A1 C>T	17	48271303	48271303	C	T	COL1A1	c.1767+1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271303C>T	(Likely) pathogenic	1 lab	9f27b80f97
10:87476619 GRID1 Ref too long to show for this DEL>A	10	87476619	87605642	Ref too long to show for this DEL	A	GRID1	c.1233+8612_1997+6140del	NM_017551.3	NP_060021.1:p.?	NC_000010.10:g.87476621_87605642del	VUS	1 lab	9f2abf52cf
13:32929339 BRCA2 A>G	13	32929339	32929339	A	G	BRCA2	c.7349A>G	NM_000059.4	NP_000050.3:p.(Asn2450Ser)	NC_000013.10:g.32929339A>G	(Likely) benign	1 lab	9f2cbf6f95
17:9086293 NTN1 G>C	17	9086293	9086293	G	C	NTN1	c.1411+7G>C	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9086293G>C	(Likely) benign	1 lab	9f3156507b
22:30127345 ZMAT5 TAG>T	22	30127345	30127360	TAG	T	ZMAT5	c.384-4_384-3del	NM_019103.3	NP_061976.1:p.?	NC_000022.10:g.30127359_30127360del	(Likely) benign	1 lab	9f324c3039
10:18828669 CACNB2 GTTTT>G	10	18828669	18828688	GTTTT	G	CACNB2	c.*32_*35del	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828685_18828688del	(Likely) benign	1 lab	9f33660bb4
8:59410781 CYP7A1 T>A	8	59410781	59410781	T	A	CYP7A1	c.321+7A>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59410781T>A	(Likely) benign	1 lab	9f3402d6d1
10:90982359 LIPA A>G	10	90982359	90982359	A	G	LIPA	c.823-20T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90982359A>G	(Likely) benign	1 lab	9f341e1cbb
1:94496665 ABCA4 C>T	1	94496665	94496665	C	T	ABCA4	c.4140G>A	NM_000350.3	NP_000341.2:p.(Pro1380=)	NC_000001.10:g.94496665C>T	(Likely) benign	1 lab	9f368656fe
2:179392028 TTN G>A	2	179392028	179392028	G	A	TTN	c.107687C>T	NM_001267550.2	NP_001254479.2:p.(Pro35896Leu)	NC_000002.11:g.179392028G>A	VUS	1 lab	9f3b82f9ca
9:79971789 VPS13A A>G	9	79971789	79971789	A	G	VPS13A	c.7806+6A>G	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79971789A>G	(Likely) benign	1 lab	9f3d4249ba
1:236906534 ACTN2 C>T	1	236906534	236906534	C	T	ACTN2	c.1255+191C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236906534C>T	(Likely) benign	1 lab	9f3fa0adfe
8:1874648 ARHGEF10 G>A	8	1874648	1874648	G	A	ARHGEF10	c.2769+19G>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1874648G>A	(Likely) benign	1 lab	9f3fd21379
7:21727043 DNAH11 G>C	7	21727043	21727043	G	C	DNAH11	c.5822G>C	NM_001277115.2	NP_001264044.1:p.(Trp1941Ser)	NC_000007.13:g.21727043G>C	VUS	1 lab	9f40303eee
16:23641580 PALB2 T>G	16	23641580	23641580	T	G	PALB2	c.1895A>C	NM_024675.4	NP_078951.2:p.(Glu632Ala)	NC_000016.9:g.23641580T>G	(Likely) benign	1 lab	9f414462b2
18:31323377 ASXL3 A>G	18	31323377	31323377	A	G	ASXL3	c.3565A>G	NM_030632.3	NP_085135.1:p.(Ser1189Gly)	NC_000018.9:g.31323377A>G	(Likely) benign	1 lab	9f45c8e710
3:12531421 TSEN2 G>A	3	12531421	12531421	G	A	TSEN2	c.122G>A	NM_025265.4	NP_079541.1:p.(Arg41His)	NC_000003.11:g.12531421G>A	(Likely) benign	1 lab	9f471187f6
5:127710317 FBN2 T>G	5	127710317	127710317	T	G	FBN2	c.2095+4A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127710317T>G	VUS	1 lab	9f481782f8
9:35561916 CIMIP2B A>C	9	35561916	35561916	A	C	CIMIP2B	c.870T>G	NM_001287239.2	NP_001274168.1:p.(Gly290=)	NC_000009.11:g.35561916A>C	(Likely) benign	1 lab	9f4c744448
19:50758572 MYH14 G>C	19	50758572	50758572	G	C	MYH14	c.2041G>C	NM_001145809.2	NP_001139281.1:p.(Gly681Arg)	NC_000019.9:g.50758572G>C	(Likely) benign	1 lab	9f4e717545
18:47109930 LIPG G>T	18	47109930	47109930	G	T	LIPG	c.1162G>T	NM_006033.4	NP_006024.1:p.(Glu388Ter)	NC_000018.9:g.47109930G>T	VUS	1 lab	9f500f0489
2:219674303 CYP27A1 C>A	2	219674303	219674303	C	A	CYP27A1	c.259C>A	NM_000784.4	NP_000775.1:p.(Leu87Ile)	NC_000002.11:g.219674303C>A	VUS	1 lab	9f511c6794
X:9659766 TBL1X G>T	X	9659766	9659766	G	T	TBL1X	c.749+15G>T	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9659766G>T	(Likely) benign	1 lab	9f52c84ae1
1:55505647 PCSK9 G>T	1	55505647	55505647	G	T	PCSK9	c.137G>T	NM_174936.4	NP_777596.2:p.(Arg46Leu)	NC_000001.10:g.55505647G>T	(Likely) benign	1 lab	9f535bf122
8:1905367 ARHGEF10 C>T	8	1905367	1905367	C	T	ARHGEF10	c.4045C>T	NM_001308153.2	NP_001295082.1:p.(Pro1349Ser)	NC_000008.10:g.1905367C>T	(Likely) benign	1 lab	9f59e5c9bd
X:28214162 MISSING A>Alt too long to show for this DUP	X	28214162	28724169	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.28214163_28724169dup	VUS	1 lab	9f59f6e6a2
22:32180812 DEPDC5 T>A	22	32180812	32180812	T	A	DEPDC5	c.575T>A	NM_001242896.3	NP_001229825.1:p.(Phe192Tyr)	NC_000022.10:g.32180812T>A	VUS	1 lab	9f60e2d28c
X:49837144 CLCN5 AT>A	X	49837144	49837146	AT	A	CLCN5	c.108del	NM_000084.5	NP_000075.1:p.(Thr37ProfsTer11)	NC_000023.10:g.49837146del	(Likely) pathogenic	1 lab	9f62139e72
X:129148812 BCORL1 C>T	X	129148812	129148812	C	T	BCORL1	c.2064C>T	NM_021946.5	NP_068765.3:p.(Val688=)	NC_000023.10:g.129148812C>T	(Likely) benign	1 lab	9f670e06bf
7:151478309 PRKAG2 T>C	7	151478309	151478309	T	C	PRKAG2	c.395A>G	NM_016203.4	NP_057287.2:p.(Lys132Arg)	NC_000007.13:g.151478309T>C	VUS	1 lab	9f68d11cb6
2:106002854 FHL2 G>A	2	106002854	106002854	G	A	FHL2	c.120C>T	NM_201555.2	NP_963849.1:p.(Cys40=)	NC_000002.11:g.106002854G>A	(Likely) benign	1 lab	9f698dc81d
3:133664067 SLCO2A1 G>A	3	133664067	133664067	G	A	SLCO2A1	c.1333C>T	NM_005630.3	NP_005621.2:p.(Arg445Cys)	NC_000003.11:g.133664067G>A	(Likely) benign	1 lab	9f6a3b2625
X:70443829 GJB1 T>C	X	70443829	70443829	T	C	GJB1	c.272T>C	NM_000166.6	NP_000157.1:p.(Val91Ala)	NC_000023.10:g.70443829T>C	VUS	1 lab	9fc656940b
8:2582657 MISSING Ref too long to show for this DEL>A	8	2582657	2782791	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.2582661_2782791del	VUS	1 lab	9f6a8538fa
11:65309055 LTBP3 C>T	11	65309055	65309055	C	T	LTBP3	c.2725+16G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65309055C>T	(Likely) benign	1 lab	9f70ef6ba8
15:45408787 DUOXA2 C>G	15	45408787	45408787	C	G	DUOXA2	c.414C>G	NM_207581.4	NP_997464.2:p.(Tyr138Ter)	NC_000015.9:g.45408787C>G	(Likely) pathogenic	1 lab	9f712b73e5
4:100539896 MTTP T>C	4	100539896	100539896	T	C	MTTP	c.2218-235T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100539896T>C	(Likely) benign	1 lab	9f718ceb91
4:166414415 CPE T>G	4	166414415	166414415	T	G	CPE	c.1206T>G	NM_001873.4	NP_001864.1:p.(Val402=)	NC_000004.11:g.166414415T>G	(Likely) benign	1 lab	9f75d94ea7
20:47570245 ARFGEF2 C>T	20	47570245	47570245	C	T	ARFGEF2	c.756C>T	NM_006420.3	NP_006411.2:p.(Asn252=)	NC_000020.10:g.47570245C>T	(Likely) benign	1 lab	9f7673701c
X:118604412 SLC25A5 G>A	X	118604412	118604412	G	A	SLC25A5	c.675G>A	NM_001152.5	NP_001143.2:p.(Gly225=)	NC_000023.10:g.118604412G>A	(Likely) benign	1 lab	9f76831eda
2:179427720 TTN T>C	2	179427720	179427720	T	C	TTN	c.83139A>G	NM_001267550.2	NP_001254479.2:p.(Glu27713=)	NC_000002.11:g.179427720T>C	(Likely) benign	1 lab	9f7a563256
13:114435898 GRK1 C>T	13	114435898	114435898	C	T	GRK1	c.1236C>T	NM_002929.3	NP_002920.1:p.(Pro412=)	NC_000013.10:g.114435898C>T	(Likely) benign	1 lab	9f7f13f1aa
20:25304071 ABHD12 A>G	20	25304071	25304071	A	G	ABHD12	c.317-5T>C	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25304071A>G	(Likely) benign	1 lab	9f7f5d7309
10:61834012 ANK3 G>A	10	61834012	61834012	G	A	ANK3	c.6627C>T	NM_020987.5	NP_066267.2:p.(Thr2209=)	NC_000010.10:g.61834012G>A	(Likely) benign	1 lab	9f85291a24
10:90988062 LIPA A>T	10	90988062	90988062	A	T	LIPA	c.323T>A	NM_000235.4	NP_000226.2:p.(Leu108His)	NC_000010.10:g.90988062A>T	(Likely) pathogenic	1 lab	9f85e2ecca
5:10265278 CCT5 A>G	5	10265278	10265278	A	G	CCT5	c.*383A>G	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265278A>G	(Likely) benign	1 lab	9f8d7842b8
8:144995938 PLEC C>T	8	144995938	144995938	C	T	PLEC	c.8462G>A	NM_201380.4	NP_958782.1:p.(Arg2821Gln)	NC_000008.10:g.144995938C>T	(Likely) benign	1 lab	9f8e9f05cb
2:21255283 APOB A>G	2	21255283	21255283	A	G	APOB	c.1295T>C	NM_000384.3	NP_000375.3:p.(Met432Thr)	NC_000002.11:g.21255283A>G	VUS	1 lab	9f91fc8137
3:58097937 FLNB G>C	3	58097937	58097937	G	C	FLNB	c.2637G>C	NM_001164317.2	NP_001157789.1:p.(Pro879=)	NC_000003.11:g.58097937G>C	(Likely) benign	1 lab	9f93d6798b
14:23862147 MYH6 T>C	14	23862147	23862147	T	C	MYH6	c.3225A>G	NM_002471.4	NP_002462.2:p.(Lys1075=)	NC_000014.8:g.23862147T>C	(Likely) benign	1 lab	9f9407f2de
19:50338843 MED25 C>G	19	50338843	50338843	C	G	MED25	c.1727C>G	NM_030973.4	NP_112235.2:p.(Ala576Gly)	NC_000019.9:g.50338843C>G	(Likely) benign	1 lab	9f94ca6c43
12:116429567 MED13L G>GC	12	116429567	116429572	G	GC	MED13L	c.3191dup	NM_015335.5	NP_056150.1:p.(Thr1065HisfsTer9)	NC_000012.11:g.116429572dup	(Likely) pathogenic	1 lab	9f96351cd3
2:220492756 SLC4A3 C>A	2	220492756	220492756	C	A	SLC4A3	c.42C>A	NM_001326559.2	NP_001313488.2:p.(Pro14=)	NC_000002.11:g.220492756C>A	(Likely) benign	1 lab	9f966a00f7
7:100403264 EPHB4 G>A	7	100403264	100403264	G	A	EPHB4	c.2537C>T	NM_004444.5	NP_004435.3:p.(Pro846Leu)	NC_000007.13:g.100403264G>A	VUS	1 lab	9f9a523a2b
1:11189911 MTOR C>T	1	11189911	11189911	C	T	MTOR	c.5614-16G>A	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11189911C>T	(Likely) benign	1 lab	9f9f68cbee
1:6111757 KCNAB2 G>A	1	6111757	6111757	G	A	KCNAB2	c.161G>A	NM_001199862.2	NP_001186791.1:p.(Arg54His)	NC_000001.10:g.6111757G>A	(Likely) benign	1 lab	9fc704fdac
2:21245889 APOB G>A	2	21245889	21245889	G	A	APOB	c.2630C>T	NM_000384.3	NP_000375.3:p.(Pro877Leu)	NC_000002.11:g.21245889G>A	(Likely) benign	1 lab	9fa36a2751
1:63064414 ANGPTL3 C>T	1	63064414	63064414	C	T	ANGPTL3	c.543C>T	NM_014495.4	NP_055310.1:p.(Thr181=)	NC_000001.10:g.63064414C>T	(Likely) benign	1 lab	9fa408c155
4:100512014 MTTP AC>A	4	100512014	100512015	AC	A	MTTP	c.502-377del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512015del	(Likely) benign	1 lab	9fa553cadd
2:179428049 TTN C>T	2	179428049	179428049	C	T	TTN	c.82810G>A	NM_001267550.2	NP_001254479.2:p.(Gly27604Ser)	NC_000002.11:g.179428049C>T	(Likely) benign	1 lab	9fa98fce65
2:179394828 TTN C>G	2	179394828	179394828	C	G	TTN	c.106390G>C	NM_001267550.2	NP_001254479.2:p.(Gly35464Arg)	NC_000002.11:g.179394828C>G	VUS	1 lab	9fab7f5c2d
10:73437418 CDH23 G>A	10	73437418	73437418	G	A	CDH23	c.1720G>A	NM_022124.6	NP_071407.4:p.(Glu574Lys)	NC_000010.10:g.73437418G>A	VUS	1 lab	9fad39321a
1:47882497 FOXE3 C>T	1	47882497	47882497	C	T	FOXE3	c.510C>T	NM_012186.3	NP_036318.1:p.(Ala170=)	NC_000001.10:g.47882497C>T	(Likely) benign	1 lab	9fb0f96acd
17:39975667 FKBP10 A>G	17	39975667	39975667	A	G	FKBP10	c.917+16A>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39975667A>G	(Likely) benign	1 lab	9fb3b306b4
12:48376685 COL2A1 C>G	12	48376685	48376685	C	G	COL2A1	c.2139G>C	NM_001844.5	NP_001835.3:p.(Gln713His)	NC_000012.11:g.48376685C>G	VUS	1 lab	9fb5a4c935
7:100304849 MISSING C>Alt too long to show for this DUP	7	100304849	100540301	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.100304851_100540301dup	VUS	1 lab	9fb68b880c
15:63353922 TPM1 G>A	15	63353922	63353922	G	A	TPM1	c.574G>A	NM_001365776.1	NP_001352705.1:p.(Glu192Lys)	NC_000015.9:g.63353922G>A	(Likely) pathogenic	1 lab	9fb7eff187
18:45372125 SMAD2 C>T	18	45372125	45372125	C	T	SMAD2	c.1044G>A	NM_001003652.4	NP_001003652.1:p.(Glu348=)	NC_000018.9:g.45372125C>T	(Likely) benign	1 lab	9fb806c3b2
12:31242861 DDX11 A>C	12	31242861	31242861	A	C	DDX11	c.922A>C	NM_030653.4	NP_085911.2:p.(Arg308=)	NC_000012.11:g.31242861A>C	(Likely) benign	1 lab	a006ee560f
2:179613388 TTN T>C	2	179613388	179613388	T	C	TTN	c.13739A>G	NM_133379.5	NP_596870.2:p.(His4580Arg)	NC_000002.11:g.179613388T>C	VUS	1 lab	9fb8795b33
14:23886507 MYH7 C>T	14	23886507	23886507	C	T	MYH7	c.4374G>A	NM_000257.4	NP_000248.2:p.(Gln1458=)	NC_000014.8:g.23886507C>T	VUS	1 lab	9fb93e7107
2:21241933 APOB C>T	2	21241933	21241933	C	T	APOB	c.3052G>A	NM_000384.3	NP_000375.3:p.(Ala1018Thr)	NC_000002.11:g.21241933C>T	(Likely) benign	1 lab	9fba23124a
6:56483404 DST A>G	6	56483404	56483404	A	G	DST	c.5428T>C	NM_001723.7	NP_001714.1:p.(Tyr1810His)	NC_000006.11:g.56483404A>G	(Likely) benign	1 lab	9fba256134
X:38147171 RPGR C>G	X	38147171	38147171	C	G	RPGR	c.1696G>C	NM_001034853.2	NP_001030025.1:p.(Gly566Arg)	NC_000023.10:g.38147171C>G	VUS	1 lab	9fba6f1a79
8:19796668 LPL A>T	8	19796668	19796668	A	T	LPL				NC_000008.10:g.19796668A>T	VUS	1 lab	9fbaf62228
18:77227476 NFATC1 A>G	18	77227476	77227476	A	G	NFATC1	c.1986A>G	NM_001278669.2	NP_001265598.1:p.(Pro662=)	NC_000018.9:g.77227476A>G	(Likely) benign	1 lab	9fbbbec600
12:110252443 TRPV4 A>T	12	110252443	110252443	A	T	TRPV4	c.159T>A	NM_021625.5	NP_067638.3:p.(Asp53Glu)	NC_000012.11:g.110252443A>T	VUS	1 lab	9fbc8a5f85
8:134274295 NDRG1 G>A	8	134274295	134274295	G	A	NDRG1	c.321C>T	NM_001135242.2	NP_001128714.1:p.(Pro107=)	NC_000008.10:g.134274295G>A	(Likely) benign	1 lab	9fbfeb67cc
6:75841722 COL12A1 A>T	6	75841722	75841722	A	T	COL12A1	c.5871T>A	NM_004370.6	NP_004361.3:p.(Ala1957=)	NC_000006.11:g.75841722A>T	(Likely) benign	1 lab	9fd96ad2ea
22:23481133 RSPH14 GAA>G	22	23481133	23481148	GAA	G	RSPH14	c.200-6_200-5del	NM_014433.3	NP_055248.1:p.?	NC_000022.10:g.23481147_23481148del	(Likely) benign	1 lab	9fc2445bd2
1:979556 AGRN G>A	1	979556	979556	G	A	AGRN	c.2067G>A	NM_001305275.2	NP_001292204.1:p.(Gln689=)	NC_000001.10:g.979556G>A	(Likely) benign	1 lab	9fc2deaece
3:38645558 SCN5A G>A	3	38645558	38645558	G	A	SCN5A	c.1535C>T	NM_198056.3	NP_932173.1:p.(Thr512Ile)	NC_000003.11:g.38645558G>A	VUS	1 lab	9fcaa01660
1:180803992 XPR1 A>AT	1	180803992	180804002	A	AT	XPR1	c.1135-8dup	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180804002dup	(Likely) benign	1 lab	9fcc80ba24
8:107192945 MISSING Ref too long to show for this DEL>T	8	107192945	107395839	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.107192946_107395839del	VUS	1 lab	9fce805546
2:179635346 TTN C>T	2	179635346	179635346	C	T	TTN	c.8173G>A	NM_001267550.2	NP_001254479.2:p.(Val2725Ile)	NC_000002.11:g.179635346C>T	VUS	1 lab	9fd15d711e
1:78390875 NEXN T>A	1	78390875	78390875	T	A	NEXN	c.450T>A	NM_144573.4	NP_653174.3:p.(Ile150=)	NC_000001.10:g.78390875T>A	(Likely) benign	1 lab	9fd3a91972
17:1673132 SERPINF1 C>T	17	1673132	1673132	C	T	SERPINF1	c.85-14C>T	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1673132C>T	(Likely) benign	1 lab	9fd43640f2
13:52548679 ATP7B C>T	13	52548679	52548679	C	T	ATP7B	c.677G>A	NM_000053.4	NP_000044.2:p.(Arg226Gln)	NC_000013.10:g.52548679C>T	(Likely) benign	1 lab	9fd978f287
2:179594228 TTN C>T	2	179594228	179594228	C	T	TTN	c.18655G>A	NM_001267550.2	NP_001254479.2:p.(Glu6219Lys)	NC_000002.11:g.179594228C>T	VUS	1 lab	9fd9b13934
X:99662371 PCDH19 C>A	X	99662371	99662371	C	A	PCDH19	c.1225G>T	NM_001184880.2	NP_001171809.1:p.(Gly409Ter)	NC_000023.10:g.99662371C>A	(Likely) pathogenic	1 lab	9fe101b449
16:89254606 CDH15 G>T	16	89254606	89254606	G	T	CDH15	c.891G>T	NM_004933.3	NP_004924.1:p.(Arg297Ser)	NC_000016.9:g.89254606G>T	VUS	1 lab	9fe628e94a
12:122257321 SETD1B A>G	12	122257321	122257321	A	G	SETD1B	c.3430A>G	NM_001353345.2	NP_001340274.1:p.(Ser1144Gly)	NC_000012.11:g.122257321A>G	(Likely) benign	1 lab	9fe959b1ce
3:136047662 PCCB C>T	3	136047662	136047662	C	T	PCCB	c.1521C>T	NM_001178014.2	NP_001171485.1:p.(Ile507=)	NC_000003.11:g.136047662C>T	(Likely) benign	1 lab	9fea15a6e2
1:156084487 LMNA C>T	1	156084487	156084487	C	T	LMNA	c.-206-17C>T	NM_001282625.2	NP_001269554.1:p.?	NC_000001.10:g.156084487C>T	(Likely) benign	1 lab	9feb3a5d91
2:167055393 SCN9A T>C	2	167055393	167055393	T	C	SCN9A	c.5723A>G	NM_002977.3	NP_002968.1:p.(Asp1908Gly)	NC_000002.11:g.167055393T>C	(Likely) benign	1 lab	9feb8d99fe
8:2890762 CSMD1 Ref too long to show for this DEL>G	8	2890762	3075771	Ref too long to show for this DEL	G	CSMD1	c.4672+1006_7661-3728del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.2890763_3075771del	VUS	1 lab	9fee4892fa
14:102891646 TECPR2 A>G	14	102891646	102891646	A	G	TECPR2	c.951+18A>G	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102891646A>G	(Likely) benign	1 lab	9feeb97e43
3:38598746 SCN5A C>T	3	38598746	38598746	C	T	SCN5A	c.4275G>A	NM_198056.3	NP_932173.1:p.(Met1425Ile)	NC_000003.11:g.38598746C>T	VUS	1 lab	9ffb00a19c
4:22438260 ADGRA3 G>A	4	22438260	22438260	G	A	ADGRA3	c.1090C>T	NM_145290.4	NP_660333.2:p.(Pro364Ser)	NC_000004.11:g.22438260G>A	(Likely) benign	1 lab	9ff1500624
2:168990754 MISSING A>Alt too long to show for this DUP	2	168990754	169259251	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.168990757_169259251dup	VUS	1 lab	9ff29d56bf
5:36970972 NIPBL T>C	5	36970972	36970972	T	C	NIPBL	c.611-6T>C	NM_015384.5	NP_056199.2:p.?	NC_000005.9:g.36970972T>C	(Likely) pathogenic	1 lab	9ff32d6516
16:19315380 CLEC19A G>A	16	19315380	19315380	G	A	CLEC19A	c.255-4G>A	NM_001256720.2	NP_001243649.1:p.?	NC_000016.9:g.19315380G>A	(Likely) benign	1 lab	9ff573ba02
15:22770420 MISSING A>Alt too long to show for this DUP	15	22770420	23195725	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23195725dup	(Likely) pathogenic	1 lab	9ff6c70ec6
9:135782675 TSC1 G>A	9	135782675	135782675	G	A	TSC1	c.1333+13C>T	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135782675G>A	(Likely) benign	1 lab	9ff8ac2111
2:189875015 COL3A1 G>A	2	189875015	189875015	G	A	COL3A1	c.3935G>A	NM_000090.4	NP_000081.2:p.(Arg1312Gln)	NC_000002.11:g.189875015G>A	VUS	1 lab	9ff8ce75cd
2:98986468 CNGA3 C>A	2	98986468	98986468	C	A	CNGA3	c.30C>A	NM_001298.3	NP_001289.1:p.(His10Gln)	NC_000002.11:g.98986468C>A	VUS	1 lab	9ff9bcf429
15:40703752 IVD A>G	15	40703752	40703752	A	G	IVD	c.551-2A>G	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40703752A>G	(Likely) pathogenic	1 lab	9ffc3a7943
10:73539133 CDH23 T>C	10	73539133	73539133	T	C	CDH23	c.5297T>C	NM_022124.6	NP_071407.4:p.(Phe1766Ser)	NC_000010.10:g.73539133T>C	(Likely) benign	1 lab	a00149f263
8:134108566 SLA C>T	8	134108566	134108566	C	T	SLA	c.-319+6231G>A	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134108566C>T	(Likely) benign	1 lab	a002424c40
6:109065924 MISSING A>Alt too long to show for this DUP	6	109065924	109727116	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.109065925_109727116dup	VUS	1 lab	a0049c774d
18:10705514 PIEZO2 G>T	18	10705514	10705514	G	T	PIEZO2	c.5480C>A	NM_022068.4	NP_071351.2:p.(Ala1827Asp)	NC_000018.9:g.10705514G>T	(Likely) benign	1 lab	a005ccbe8e
2:24974856 NCOA1 G>A	2	24974856	24974856	G	A	NCOA1	c.3712G>A	NM_003743.5	NP_003734.3:p.(Val1238Ile)	NC_000002.11:g.24974856G>A	(Likely) benign	1 lab	a008ccd709
5:151055705 SPARC G>A	5	151055705	151055705	G	A	SPARC	c.45C>T	NM_003118.4	NP_003109.1:p.(Ala15=)	NC_000005.9:g.151055705G>A	(Likely) benign	1 lab	a00ae529b2
8:1846562 ARHGEF10 C>T	8	1846562	1846562	C	T	ARHGEF10	c.1558-37C>T	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1846562C>T	(Likely) benign	1 lab	a014f986ec
2:15359002 NBAS C>T	2	15359002	15359002	C	T	NBAS	c.6327G>A	NM_015909.4	NP_056993.2:p.(Val2109=)	NC_000002.11:g.15359002C>T	(Likely) benign	1 lab	a015b79590
6:112440438 LAMA4 G>C	6	112440438	112440438	G	C	LAMA4	c.4721C>G	NM_002290.5	NP_002281.3:p.(Pro1574Arg)	NC_000006.11:g.112440438G>C	VUS	1 lab	a018d1993e
5:148421152 SH3TC2 G>A	5	148421152	148421152	G	A	SH3TC2	c.558C>T	NM_024577.4	NP_078853.2:p.(Ser186=)	NC_000005.9:g.148421152G>A	(Likely) benign	1 lab	a01928c530
17:17124830 FLCN G>GC	17	17124830	17124831	G	GC	FLCN	c.871+20dup	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17124831dup	(Likely) benign	1 lab	a01aa7fc39
15:85407711 ALPK3 A>G	15	85407711	85407711	A	G	ALPK3	c.4538A>G	NM_020778.5	NP_065829.4:p.(Asn1513Ser)	NC_000015.9:g.85407711A>G	VUS	1 lab	a01c0d9f8b
2:179393278 TTN C>T	2	179393278	179393278	C	T	TTN	c.107200G>A	NM_001267550.2	NP_001254479.2:p.(Glu35734Lys)	NC_000002.11:g.179393278C>T	VUS	1 lab	a01c471a4a
10:88451663 LDB3 A>G	10	88451663	88451663	A	G	LDB3	c.904A>G	NM_001171610.2	NP_001165081.1:p.(Ile302Val)	NC_000010.10:g.88451663A>G	VUS	1 lab	a01ca1002a
3:196952169 MISSING T>Alt too long to show for this DUP	3	196952169	197458739	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.196952170_197458739dup	VUS	1 lab	a01e421619
12:83114726 TMTC2 A>Alt too long to show for this DUP	12	83114726	83154304	A	Alt too long to show for this DUP	TMTC2	c.83+33279_83+72856dup	NM_152588.3	NP_689801.1:p.?	NC_000012.11:g.83114727_83154304dup	VUS	1 lab	a01e51e6a3
X:46713504 RP2 C>T	X	46713504	46713504	C	T	RP2	c.696C>T	NM_006915.3	NP_008846.2:p.(Ser232=)	NC_000023.10:g.46713504C>T	(Likely) benign	1 lab	a01fd420f6
16:21817945 MISSING Ref too long to show for this DEL>G	16	21817945	22710614	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.21817947_22710614del	(Likely) pathogenic	1 lab	a02003a6bf
2:179432946 TTN A>T	2	179432946	179432946	A	T	TTN	c.77913T>A	NM_001267550.2	NP_001254479.2:p.(Tyr25971Ter)	NC_000002.11:g.179432946A>T	(Likely) pathogenic	1 lab	a024dd5932
15:34331113 AVEN CCCGCCGCCGCCT>C	15	34331113	34331138	CCCGCCGCCGCCT	C	AVEN	c.123_134del	NM_020371.3	NP_065104.1:p.(Gly42_Gly45del)	NC_000015.9:g.34331127_34331138del	(Likely) benign	1 lab	a0253fabbb
14:23858809 MYH6 G>A	14	23858809	23858809	G	A	MYH6	c.3852C>T	NM_002471.4	NP_002462.2:p.(Thr1284=)	NC_000014.8:g.23858809G>A	(Likely) benign	1 lab	a0260311fd
3:69054341 EOGT T>C	3	69054341	69054341	T	C	EOGT	c.465A>G	NM_001278689.2	NP_001265618.1:p.(Arg155=)	NC_000003.11:g.69054341T>C	(Likely) benign	1 lab	a02643bc03
1:146466267 NBPF14 C>T	1	146466267	146466267	C	T	NBPF14	c.*146C>T	NM_015383.2	NP_056198.2:p.?	NC_000001.10:g.146466267C>T	(Likely) benign	1 lab	a027f41f99
1:3347503 PRDM16 G>A	1	3347503	3347503	G	A	PRDM16	c.3352G>A	NM_022114.4	NP_071397.3:p.(Val1118Met)	NC_000001.10:g.3347503G>A	VUS	1 lab	a02cd23dc9
7:111178448 MISSING A>Alt too long to show for this DUP	7	111178448	111224159	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.111178449_111224159dup	VUS	1 lab	a030677395
11:68206080 LRP5 T>C	11	68206080	68206080	T	C	LRP5	c.2535T>C	NM_001291902.2	NP_001278831.1:p.(Tyr845=)	NC_000011.9:g.68206080T>C	(Likely) benign	1 lab	a034eb84b3
2:48026707 MSH6 G>A	2	48026707	48026707	G	A	MSH6	c.1585G>A	NM_000179.3	NP_000170.1:p.(Gly529Ser)	NC_000002.11:g.48026707G>A	(Likely) benign	1 lab	a036ca1135
12:123874010 KMT5A AGGC>A	12	123874010	123874033	AGGC	A	KMT5A	c.62_64del	NM_020382.7	NP_065115.3:p.(Ala21del)	NC_000012.11:g.123874031_123874033del	(Likely) benign	1 lab	a038f8a149
15:58834143 LIPC G>A	15	58834143	58834143	G	A	LIPC	c.433G>A	NM_000236.3	NP_000227.2:p.(Ala145Thr)	NC_000015.9:g.58834143G>A	VUS	1 lab	a03a290890
10:27400891 YME1L1 A>T	10	27400891	27400891	A	T	YME1L1	c.*15T>A	NM_139312.3	NP_647473.1:p.?	NC_000010.10:g.27400891A>T	(Likely) benign	1 lab	a03b7835a5
8:48732074 PRKDC T>TAAA	8	48732074	48732095	T	TAAA	PRKDC	c.9337-6_9337-4dup	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48732093_48732095dup	(Likely) benign	1 lab	a03d292556
19:16940621 SIN3B A>G	19	16940621	16940621	A	G	SIN3B	c.140A>G	NM_015260.4	NP_056075.1:p.(Tyr47Cys)	NC_000019.9:g.16940621A>G	VUS	1 lab	a03d9f522a
9:107646516 ABCA1 G>A	9	107646516	107646516	G	A	ABCA1	c.302+192C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646516G>A	(Likely) benign	1 lab	a040535bdd
8:100844596 VPS13B G>GTTTTTTTTTTTTTTTTT	8	100844596	100844598	G	GTTTTTTTTTTTTTTTTT	VPS13B	c.9406_9407insTTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.(Tyr3136PhefsTer27)	NC_000008.10:g.100844597_100844598insTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	a04526f9e2
16:1004375 LMF1 A>G	16	1004375	1004375	A	G	LMF1	c.158T>C	NM_001352019.2	NP_001338948.1:p.(Val53Ala)	NC_000016.9:g.1004375A>G	VUS	1 lab	a04586455f
22:19711522 GP1BB C>T	22	19711522	19711522	C	T	GP1BB	c.156C>T	NM_000407.5	NP_000398.1:p.(Ala52=)	NC_000022.10:g.19711522C>T	(Likely) benign	1 lab	a046b06191
8:24813584 NEFL G>A	8	24813584	24813584	G	A	NEFL	c.446C>T	NM_006158.5	NP_006149.2:p.(Ala149Val)	NC_000008.10:g.24813584G>A	(Likely) pathogenic	1 lab	a04913f0d2
8:145006790 PLEC T>C	8	145006790	145006790	T	C	PLEC	c.2226+13A>G	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145006790T>C	(Likely) benign	1 lab	a04a2dfe5d
2:179500028 TTN C>T	2	179500028	179500028	C	T	TTN	c.34184G>A	NM_133378.4	NP_596869.4:p.(Arg11395His)	NC_000002.11:g.179500028C>T	VUS	1 lab	a04aa3b244
14:60976338 SIX6 G>A	14	60976338	60976338	G	A	SIX6	c.222G>A	NM_007374.3	NP_031400.2:p.(Leu74=)	NC_000014.8:g.60976338G>A	VUS	1 lab	a04ae85bde
20:62679908 SOX18 G>A	20	62679908	62679908	G	A	SOX18	c.766C>T	NM_018419.3	NP_060889.1:p.(Arg256Trp)	NC_000020.10:g.62679908G>A	(Likely) benign	1 lab	a04b39ef89
19:49674971 TRPM4 G>A	19	49674971	49674971	G	A	TRPM4	c.995G>A	NM_017636.4	NP_060106.2:p.(Arg332Gln)	NC_000019.9:g.49674971G>A	VUS	1 lab	a04ba88c6e
2:21231288 APOB T>C	2	21231288	21231288	T	C	APOB	c.8452A>G	NM_000384.3	NP_000375.3:p.(Lys2818Glu)	NC_000002.11:g.21231288T>C	(Likely) benign	1 lab	a04ef48aa5
9:107595219 ABCA1 G>GA	9	107595219	107595228	G	GA	ABCA1	c.1312-168dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595228dup	(Likely) benign	1 lab	a0518f7afa
8:8093065 MISSING Ref too long to show for this DEL>C	8	8093065	11935024	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.8093066_11935024del	(Likely) pathogenic	1 lab	a0553b16f3
2:179542880 TTN C>T	2	179542880	179542880	C	T	TTN	c.33966G>A	NM_001267550.2	NP_001254479.2:p.(Pro11322=)	NC_000002.11:g.179542880C>T	(Likely) benign	1 lab	a058c3572e
12:125296408 SCARB1 C>A	12	125296408	125296408	C	A	SCARB1	c.726+8G>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125296408C>A	(Likely) benign	1 lab	a058d00374
1:38082283 RSPO1 G>A	1	38082283	38082283	G	A	RSPO1	c.159C>T	NM_001038633.4	NP_001033722.1:p.(Cys53=)	NC_000001.10:g.38082283G>A	(Likely) benign	1 lab	a05a37884f
19:45412436 APOE G>A	19	45412436	45412436	G	A	APOE	c.961G>A	NM_001302688.2	NP_001289617.1:p.(Ala321Thr)	NC_000019.9:g.45412436G>A	VUS	1 lab	a05ad95c6a
14:90429477 TDP1 T>G	14	90429477	90429477	T	G	TDP1	c.19T>G	NM_018319.4	NP_060789.2:p.(Tyr7Asp)	NC_000014.8:g.90429477T>G	VUS	1 lab	a05d7c0013
5:126156531 LMNB1 GT>G	5	126156531	126156545	GT	G	LMNB1	c.1161-57del	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126156545del	(Likely) benign	1 lab	a05ea00518
16:77328990 ADAMTS18 C>A	16	77328990	77328990	C	A	ADAMTS18	c.2836G>T	NM_199355.4	NP_955387.1:p.(Ala946Ser)	NC_000016.9:g.77328990C>A	(Likely) benign	1 lab	a05fb8a8dd
7:91855926 KRIT1 G>A	7	91855926	91855926	G	A	KRIT1	c.1060C>T	NM_194455.1	NP_919437.1:p.(Gln354Ter)	NC_000007.13:g.91855926G>A	(Likely) pathogenic	1 lab	a060ae4b9c
3:14166691 TMEM43 A>G	3	14166691	14166691	A	G	TMEM43	c.-3A>G	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14166691A>G	(Likely) benign	1 lab	a06106b45f
X:152895757 MISSING A>Alt too long to show for this DUP	X	152895757	153473892	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152895759_153473892dup	(Likely) pathogenic	1 lab	a061428086
7:56157904 MISSING G>Alt too long to show for this DUP	7	56157904	56935749	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.56157909_56935749dup	VUS	1 lab	a0668050eb
8:19797064 LPL T>A	8	19797064	19797064	T	A	LPL	c.88+25T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797064T>A	(Likely) benign	1 lab	a06d389de0
12:21349885 SLCO1B1 A>G	12	21349885	21349885	A	G	SLCO1B1	c.733A>G	NM_006446.5	NP_006437.3:p.(Ile245Val)	NC_000012.11:g.21349885A>G	(Likely) benign	1 lab	a06db0167c
19:5039867 KDM4B G>A	19	5039867	5039867	G	A	KDM4B	c.162G>A	NM_015015.3	NP_055830.1:p.(Trp54Ter)	NC_000019.9:g.5039867G>A	VUS	1 lab	a0703188e4
8:19818249 LPL A>G	8	19818249	19818249	A	G	LPL	c.1140-163A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818249A>G	(Likely) benign	1 lab	a0746a05b9
5:13871804 DNAH5 AT>A	5	13871804	13871805	AT	A	DNAH5	c.3466del	NM_001369.3	NP_001360.1:p.(Ile1156LeufsTer24)	NC_000005.9:g.13871805del	(Likely) pathogenic	1 lab	a077578739
10:73462468 CDH23 T>G	10	73462468	73462468	T	G	CDH23	c.2733+17T>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73462468T>G	(Likely) benign	1 lab	a07ae13437
15:52263037 MISSING T>Alt too long to show for this DUP	15	52263037	52345562	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.52263041_52345562dup	VUS	1 lab	a07ed50c65
X:32563401 DMD T>G	X	32563401	32563401	T	G	DMD	c.2043A>C	NM_004006.3	NP_003997.2:p.(Val681=)	NC_000023.10:g.32563401T>G	(Likely) benign	1 lab	a082fac75b
2:1497763 TPO T>C	2	1497763	1497763	T	C	TPO	c.1958T>C	NM_000547.6	NP_000538.3:p.(Phe653Ser)	NC_000002.11:g.1497763T>C	(Likely) pathogenic	1 lab	a0842ff6a8
2:179592408 TTN G>A	2	179592408	179592408	G	A	TTN	c.19897C>T	NM_001267550.2	NP_001254479.2:p.(Leu6633Phe)	NC_000002.11:g.179592408G>A	VUS	1 lab	a0853c07da
8:55538562 RP1 GA>G	8	55538562	55538564	GA	G	RP1	c.2122del	NM_006269.2	NP_006260.1:p.(Ile708LeufsTer5)	NC_000008.10:g.55538564del	(Likely) pathogenic	1 lab	a0880dce6a
6:32552129 HLA-DRB1 C>CATGTTTAA	6	32552129	32552130	C	CATGTTTAA	HLA-DRB1	c.126_127insTTAAACAT	NM_002124.4	NP_002115.2:p.(Glu43LeufsTer40)	NC_000006.11:g.32552129_32552130insATGTTTAA	(Likely) benign	1 lab	a089487826
17:59761109 BRIP1 C>T	17	59761109	59761109	C	T	BRIP1	c.3298G>A	NM_032043.3	NP_114432.2:p.(Asp1100Asn)	NC_000017.10:g.59761109C>T	VUS	1 lab	a08b2c3b52
19:10286231 DNMT1 T>C	19	10286231	10286231	T	C	DNMT1	c.633A>G	NM_001130823.3	NP_001124295.1:p.(Glu211=)	NC_000019.9:g.10286231T>C	(Likely) benign	1 lab	a08d1b9301
16:31202096 FUS T>C	16	31202096	31202096	T	C	FUS	c.1326T>C	NM_004960.4	NP_004951.1:p.(Asn442=)	NC_000016.9:g.31202096T>C	(Likely) benign	1 lab	a08e6749c8
4:73433122 ADAMTS3 GA>G	4	73433122	73433125	GA	G	ADAMTS3	c.70-5del	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73433125del	(Likely) benign	1 lab	a08ed0c1a3
8:145739672 RECQL4 G>A	8	145739672	145739672	G	A	RECQL4	c.1779C>T	NM_004260.4	NP_004251.4:p.(Ala593=)	NC_000008.10:g.145739672G>A	(Likely) benign	1 lab	a097571483
17:39925682 JUP G>A	17	39925682	39925682	G	A	JUP	c.456C>T	NM_001352773.2	NP_001339702.1:p.(Asn152=)	NC_000017.10:g.39925682G>A	(Likely) benign	1 lab	a09c20699f
3:178928084 PIK3CA T>C	3	178928084	178928084	T	C	PIK3CA	c.1362T>C	NM_006218.4	NP_006209.2:p.(Asp454=)	NC_000003.11:g.178928084T>C	(Likely) benign	1 lab	a09ccd24ed
16:984246 LMF1 A>C	16	984246	984246	A	C	LMF1	c.185T>G	NM_001352019.2	NP_001338948.1:p.(Phe62Cys)	NC_000016.9:g.984246A>C	VUS	1 lab	a09ecc06cd
8:55537327 RP1 T>C	8	55537327	55537327	T	C	RP1	c.885T>C	NM_006269.2	NP_006260.1:p.(Val295=)	NC_000008.10:g.55537327T>C	(Likely) benign	1 lab	a0a2fc8704
14:24534341 CARMIL3 T>C	14	24534341	24534341	T	C	CARMIL3	c.3255T>C	NM_138360.4	NP_612369.3:p.(Pro1085=)	NC_000014.8:g.24534341T>C	(Likely) benign	1 lab	a0a5876c76
9:107602806 ABCA1 G>A	9	107602806	107602806	G	A	ABCA1	c.814-6C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107602806G>A	(Likely) benign	1 lab	a0a58ad1bd
X:153140482 MISSING A>Alt too long to show for this DUP	X	153140482	153387953	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153140485_153387953dup	(Likely) pathogenic	1 lab	a0a6349478
14:102506964 DYNC1H1 C>T	14	102506964	102506964	C	T	DYNC1H1	c.11895C>T	NM_001376.5	NP_001367.2:p.(Ser3965=)	NC_000014.8:g.102506964C>T	(Likely) benign	1 lab	a0a7582b34
12:57423002 MYO1A G>A	12	57423002	57423002	G	A	MYO1A	c.2919C>T	NM_001256041.2	NP_001242970.1:p.(Ser973=)	NC_000012.11:g.57423002G>A	(Likely) benign	1 lab	a0a7f41443
2:27699518 IFT172 A>G	2	27699518	27699518	A	G	IFT172	c.1401T>C	NM_015662.3	NP_056477.1:p.(Thr467=)	NC_000002.11:g.27699518A>G	(Likely) benign	1 lab	a0a805cb33
7:150648180 KCNH2 G>A	7	150648180	150648180	G	A	KCNH2	c.1974C>T	NM_000238.4	NP_000229.1:p.(Asn658=)	NC_000007.13:g.150648180G>A	(Likely) benign	1 lab	a0a8c43478
12:21370205 SLCO1B1 T>G	12	21370205	21370205	T	G	SLCO1B1	c.1650T>G	NM_006446.5	NP_006437.3:p.(Leu550=)	NC_000012.11:g.21370205T>G	(Likely) benign	1 lab	a0abc0ac3b
2:189918906 COL5A2 C>T	2	189918906	189918906	C	T	COL5A2	c.2424G>A	NM_000393.5	NP_000384.2:p.(Pro808=)	NC_000002.11:g.189918906C>T	(Likely) benign	1 lab	a0ad4167bf
12:48533109 PFKM C>T	12	48533109	48533109	C	T	PFKM	c.1317C>T	NM_001166686.2	NP_001160158.1:p.(Asp439=)	NC_000012.11:g.48533109C>T	VUS	1 lab	a0af538602
12:95689914 MISSING A>Alt too long to show for this DUP	12	95689914	95714528	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.95689916_95714528dup	VUS	1 lab	a0b0c64180
19:16593496 CALR3 G>A	19	16593496	16593496	G	A	CALR3	c.779C>T	NM_145046.5	NP_659483.2:p.(Pro260Leu)	NC_000019.9:g.16593496G>A	VUS	1 lab	a0c2da0aaf
13:52516602 ATP7B C>T	13	52516602	52516602	C	T	ATP7B	c.3332G>A	NM_000053.4	NP_000044.2:p.(Gly1111Asp)	NC_000013.10:g.52516602C>T	(Likely) benign	1 lab	a0b1dd83dd
12:94282977 MISSING Ref too long to show for this DEL>G	12	94282977	94350978	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.94282981_94350978del	VUS	1 lab	a0b7d65bb2
14:105180705 INF2 C>T	14	105180705	105180705	C	T	INF2	c.3206C>T	NM_022489.4	NP_071934.3:p.(Pro1069Leu)	NC_000014.8:g.105180705C>T	VUS	1 lab	a0b81e32cd
6:32012166 TNXB A>T	6	32012166	32012166	A	T	TNXB	c.11249T>A	NM_019105.8	NP_061978.6:p.(Leu3750His)	NC_000006.11:g.32012166A>T	VUS	1 lab	a0b9b618e4
3:38648127 SCN5A C>T	3	38648127	38648127	C	T	SCN5A	c.1140+33G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38648127C>T	(Likely) benign	1 lab	a0ba456ea4
16:15835445 MYH11 G>A	16	15835445	15835445	G	A	MYH11	c.2734C>T	NM_002474.3	NP_002465.1:p.(Arg912Trp)	NC_000016.9:g.15835445G>A	VUS	1 lab	a0babcf014
17:48277107 COL1A1 G>T	17	48277107	48277107	G	T	COL1A1	c.298+7C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48277107G>T	(Likely) benign	1 lab	a0bcd0b411
X:70444083 GJB1 A>G	X	70444083	70444083	A	G	GJB1	c.526A>G	NM_000166.6	NP_000157.1:p.(Thr176Ala)	NC_000023.10:g.70444083A>G	VUS	1 lab	a0be19d67c
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+46_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524366_55524391del	(Likely) benign	1 lab	a0c10b5e94
2:179648828 TTN C>T	2	179648828	179648828	C	T	TTN	c.2744G>A	NM_001267550.2	NP_001254479.2:p.(Arg915His)	NC_000002.11:g.179648828C>T	VUS	1 lab	a0c17b11ef
11:65318412 LTBP3 C>A	11	65318412	65318412	C	A	LTBP3	c.1720+185G>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318412C>A	(Likely) benign	1 lab	a0c3b4e1fb
6:112463403 LAMA4 C>T	6	112463403	112463403	C	T	LAMA4	c.2585G>A	NM_001105206.3	NP_001098676.2:p.(Ser862Asn)	NC_000006.11:g.112463403C>T	VUS	1 lab	a0c5ff284a
19:260910 MISSING Ref too long to show for this DEL>C	19	260910	415612	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.260912_415612del	VUS	1 lab	a0c6ded8ad
12:53722362 SP7 C>T	12	53722362	53722362	C	T	SP7	c.864G>A	NM_001173467.3	NP_001166938.1:p.(Leu288=)	NC_000012.11:g.53722362C>T	(Likely) benign	1 lab	a0c93e4003
1:12030762 PLOD1 G>A	1	12030762	12030762	G	A	PLOD1	c.1791G>A	NM_000302.4	NP_000293.2:p.(Pro597=)	NC_000001.10:g.12030762G>A	(Likely) benign	1 lab	a0cb5b712f
13:103506220 ERCC5 A>G	13	103506220	103506220	A	G	ERCC5	c.378A>G	NM_000123.4	NP_000114.3:p.(Lys126=)	NC_000013.10:g.103506220A>G	(Likely) benign	1 lab	a0cb9b6d78
5:127654704 FBN2 T>A	5	127654704	127654704	T	A	FBN2	c.4472-11A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654704T>A	(Likely) benign	1 lab	a0cf6943c4
3:121518236 IQCB1 T>TA	3	121518236	121518246	T	TA	IQCB1	c.588-16dup	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121518246dup	(Likely) benign	1 lab	a0d57c1173
2:44101537 ABCG8 A>AT	2	44101537	44101538	A	AT	ABCG8	c.1412-9_1412-8insT	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101537_44101538insT	(Likely) benign	1 lab	a0d809151c
15:41862801 TYRO3 G>T	15	41862801	41862801	G	T	TYRO3	c.1484-1G>T	NM_006293.4	NP_006284.2:p.?	NC_000015.9:g.41862801G>T	(Likely) benign	1 lab	a0d98449e5
4:114223960 ANK2 C>T	4	114223960	114223960	C	T	ANK2	c.2513C>T	NM_001148.6	NP_001139.3:p.(Thr838Met)	NC_000004.11:g.114223960C>T	VUS	1 lab	a0dc209965
2:50892645 NRXN1 Ref too long to show for this DEL>A	2	50892645	50968653	Ref too long to show for this DEL	A	NRXN1	c.833-117899_833-41893del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50892647_50968653del	VUS	1 lab	a0e0f8c5ef
11:76915221 MYO7A G>A	11	76915221	76915221	G	A	MYO7A	c.5427G>A	NM_000260.4	NP_000251.3:p.(Leu1809=)	NC_000011.9:g.76915221G>A	(Likely) benign	1 lab	a0e287e09f
X:102874782 MISSING A>Alt too long to show for this DUP	X	102874782	103236332	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.102874784_103236332dup	(Likely) pathogenic	1 lab	a0e5368766
14:76241810 TTLL5 G>A	14	76241810	76241810	G	A	TTLL5	c.2137-17G>A	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76241810G>A	(Likely) benign	1 lab	a0ea6f1e34
5:86679543 RASA1 C>T	5	86679543	86679543	C	T	RASA1	c.2704C>T	NM_002890.3	NP_002881.1:p.(Leu902Phe)	NC_000005.9:g.86679543C>T	VUS	1 lab	a0eb0e4af7
12:50498369 GPD1 C>T	12	50498369	50498369	C	T	GPD1	c.54C>T	NM_005276.4	NP_005267.2:p.(Ile18=)	NC_000012.11:g.50498369C>T	(Likely) benign	1 lab	a0ed139fe1
2:157182691 NR4A2 G>A	2	157182691	157182691	G	A	NR4A2	c.1511C>T	NM_006186.4	NP_006177.1:p.(Ser504Phe)	NC_000002.11:g.157182691G>A	VUS	1 lab	a0ed483bfb
1:7700579 CAMTA1 G>A	1	7700579	7700579	G	A	CAMTA1	c.630G>A	NM_015215.4	NP_056030.1:p.(Thr210=)	NC_000001.10:g.7700579G>A	(Likely) benign	1 lab	a0ede014a6
2:39213305 SOS1 C>G	2	39213305	39213305	C	G	SOS1	c.3662G>C	NM_005633.4	NP_005624.2:p.(Arg1221Thr)	NC_000002.11:g.39213305C>G	VUS	1 lab	a0ef3dfcac
5:133945620 SAR1B TTTAAAA>T	5	133945620	133945627	TTTAAAA	T	SAR1B	c.245-262_245-257del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133945622_133945627del	(Likely) benign	1 lab	a0f053594a
2:207007481 NDUFS1 G>A	2	207007481	207007481	G	A	NDUFS1	c.1062C>T	NM_005006.7	NP_004997.4:p.(Leu354=)	NC_000002.11:g.207007481G>A	(Likely) benign	1 lab	a0f0c507b8
6:56600036 DST T>C	6	56600036	56600036	T	C	DST	c.677A>G	NM_001144769.5	NP_001138241.1:p.(His226Arg)	NC_000006.11:g.56600036T>C	VUS	1 lab	a0f10302cc
9:107589466 ABCA1 C>T	9	107589466	107589466	C	T	ABCA1	c.2116-16G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589466C>T	(Likely) benign	1 lab	a0f1639967
12:21997772 ABCC9 TTCTACA>T	12	21997772	21997778	TTCTACA	T	ABCC9	c.3168_3173del	NM_020297.4	NP_064693.2:p.(Val1057_Glu1058del)	NC_000012.11:g.21997773_21997778del	VUS	1 lab	a0f26a4c63
5:127616014 FBN2 A>G	5	127616014	127616014	A	G	FBN2	c.7013-5T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127616014A>G	(Likely) benign	1 lab	a0f6fd7077
6:56328400 DST G>A	6	56328400	56328400	G	A	DST	c.16493C>T	NM_001144769.5	NP_001138241.1:p.(Ala5498Val)	NC_000006.11:g.56328400G>A	VUS	1 lab	a0f76b436d
8:42821774 HOOK3 A>G	8	42821774	42821774	A	G	HOOK3	c.920+18A>G	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42821774A>G	(Likely) benign	1 lab	a0fddd4a63
X:149084672 MISSING A>Alt too long to show for this DUP	X	149084672	149631262	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.149084673_149631262dup	VUS	1 lab	a0ff9a1f90
22:46930107 CELSR1 C>T	22	46930107	46930107	C	T	CELSR1	c.2961G>A	NM_001378328.1	NP_001365257.1:p.(Val987=)	NC_000022.10:g.46930107C>T	(Likely) benign	1 lab	a0ffc46b2c
10:92675331 ANKRD1 A>G	10	92675331	92675331	A	G	ANKRD1	c.818T>C	NM_014391.3	NP_055206.2:p.(Met273Thr)	NC_000010.10:g.92675331A>G	(Likely) benign	1 lab	a101b0a8e2
1:211842549 NEK2 C>T	1	211842549	211842549	C	T	NEK2	c.891G>A	NM_002497.4	NP_002488.1:p.(Gln297=)	NC_000001.10:g.211842549C>T	(Likely) benign	1 lab	a103398aca
16:920877 LMF1 C>T	16	920877	920877	C	T	LMF1	c.685G>A	NM_001352018.2	NP_001338947.1:p.(Val229Met)	NC_000016.9:g.920877C>T	VUS	1 lab	a11b0c36ae
16:88793068 PIEZO1 T>TCAGTGGGGC	16	88793068	88793072	T	TCAGTGGGGC	PIEZO1	c.3700-18_3700-17insGCCCCACTG	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793071_88793072insTGGGGCCAG	(Likely) benign	1 lab	a1064ed16d
3:38991568 SCN11A C>G	3	38991568	38991568	C	G	SCN11A	c.267+19G>C	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991568C>G	(Likely) benign	1 lab	a106f66c43
16:68772184 CDH1 C>G	16	68772184	68772184	C	G	CDH1	c.49-16C>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68772184C>G	VUS	1 lab	a106fadeec
19:50916691 POLD1 G>A	19	50916691	50916691	G	A	POLD1	c.2163G>A	NM_001256849.1	NP_001243778.1:p.(Thr721=)	NC_000019.9:g.50916691G>A	(Likely) benign	1 lab	a1082a2509
10:28897200 WAC AC>A	10	28897200	28897202	AC	A	WAC	c.1007del	NM_016628.5	NP_057712.2:p.(Pro336LeufsTer51)	NC_000010.10:g.28897202del	(Likely) pathogenic	1 lab	a108bd7208
12:59270333 LRIG3 C>T	12	59270333	59270333	C	T	LRIG3	c.2589G>A	NM_153377.5	NP_700356.2:p.(Thr863=)	NC_000012.11:g.59270333C>T	(Likely) benign	1 lab	a10c1ee1e5
9:7796438 MISSING Ref too long to show for this DEL>A	9	7796438	7939732	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.7796439_7939732del	VUS	1 lab	a10d414bbb
1:26385059 TRIM63 G>A	1	26385059	26385059	G	A	TRIM63	c.653C>T	NM_032588.4	NP_115977.2:p.(Ala218Val)	NC_000001.10:g.26385059G>A	(Likely) benign	1 lab	a112e4dd59
2:179447843 TTN G>C	2	179447843	179447843	G	C	TTN	c.65687C>G	NM_001267550.2	NP_001254479.2:p.(Ser21896Cys)	NC_000002.11:g.179447843G>C	VUS	1 lab	a11509cb46
9:107665980 ABCA1 C>A	9	107665980	107665980	C	A	ABCA1	c.-20G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665980C>A	VUS	1 lab	a1168f6933
8:113332212 CSMD3 T>C	8	113332212	113332212	T	C	CSMD3	c.7166-2A>G	NM_198123.2	NP_937756.1:p.?	NC_000008.10:g.113332212T>C	VUS	1 lab	a116d0d585
1:26495553 MISSING Ref too long to show for this DEL>T	1	26495553	26524064	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.26495557_26524064del	VUS	1 lab	a1185f54fa
6:30954469 MUC21 A>G	6	30954469	30954469	A	G	MUC21	c.517A>G	NM_001010909.5	NP_001010909.2:p.(Thr173Ala)	NC_000006.11:g.30954469A>G	(Likely) benign	1 lab	a11e2af235
11:108175493 ATM C>G	11	108175493	108175493	C	G	ATM	c.5588C>G	NM_000051.4	NP_000042.3:p.(Ser1863Cys)	NC_000011.9:g.108175493C>G	VUS	1 lab	a124776cec
11:46725976 ZNF408 G>A	11	46725976	46725976	G	A	ZNF408	c.702G>A	NM_001184751.2	NP_001171680.1:p.(Gln234=)	NC_000011.9:g.46725976G>A	(Likely) benign	1 lab	a1251ce541
1:35915554 KIAA0319L A>G	1	35915554	35915554	A	G	KIAA0319L	c.2267T>C	NM_024874.5	NP_079150.3:p.(Val756Ala)	NC_000001.10:g.35915554A>G	VUS	1 lab	a1254bb4df
13:32914933 BRCA2 C>G	13	32914933	32914933	C	G	BRCA2	c.6441C>G	NM_000059.4	NP_000050.3:p.(His2147Gln)	NC_000013.10:g.32914933C>G	(Likely) benign	1 lab	a126ebe47e
1:214557945 PTPN14 C>T	1	214557945	214557945	C	T	PTPN14	c.1253G>A	NM_005401.5	NP_005392.2:p.(Ser418Asn)	NC_000001.10:g.214557945C>T	(Likely) benign	1 lab	a127d1874c
9:137706336 COL5A1 T>C	9	137706336	137706336	T	C	COL5A1	c.3907-307T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137706336T>C	(Likely) benign	1 lab	a1295f0d9a
15:64455101 PPIB C>T	15	64455101	64455101	C	T	PPIB	c.85G>A	NM_000942.5	NP_000933.1:p.(Gly29Arg)	NC_000015.9:g.64455101C>T	(Likely) benign	1 lab	a12a02ad05
15:48773526 FBN1 G>A	15	48773526	48773526	G	A	FBN1	c.3964+326C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48773526G>A	(Likely) benign	1 lab	a12f374ea1
16:67976402 LCAT G>A	16	67976402	67976402	G	A	LCAT	c.612C>T	NM_000229.2	NP_000220.1:p.(His204=)	NC_000016.9:g.67976402G>A	(Likely) benign	1 lab	a130774327
12:125348219 SCARB1 G>A	12	125348219	125348219	G	A	SCARB1	c.48C>T	NM_001367981.1	NP_001354910.1:p.(Val16=)	NC_000012.11:g.125348219G>A	(Likely) benign	1 lab	a132630c83
14:78021744 SPTLC2 C>T	14	78021744	78021744	C	T	SPTLC2	c.1075G>A	NM_004863.4	NP_004854.1:p.(Val359Met)	NC_000014.8:g.78021744C>T	(Likely) pathogenic	1 lab	a13879baeb
1:237758963 RYR2 C>T	1	237758963	237758963	C	T	RYR2	c.4596+6C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237758963C>T	(Likely) benign	1 lab	a13a549d5c
19:11223983 LDLR C>A	19	11223983	11223983	C	A	LDLR	c.1216C>A	NM_000527.5	NP_000518.1:p.(Arg406=)	NC_000019.9:g.11223983C>A	(Likely) pathogenic	1 lab	a13bc61827
3:160142810 SMC4 A>ATGTGTGTG	3	160142810	160142841	A	ATGTGTGTG	SMC4	c.2478+27_2478+34dup	NM_005496.3	NP_005487.3:p.?	NC_000003.11:g.160142834_160142841dup	(Likely) benign	1 lab	a13c42b12c
X:15373365 VEGFD Ref too long to show for this DEL>A	X	15373365	15385387	Ref too long to show for this DEL	A	VEGFD	c.91-3946_547del	NM_004469.5	NP_004460.1:p.?	NC_000023.10:g.15373366_15385387del	VUS	1 lab	a13dc4c611
15:58837986 LIPC A>G	15	58837986	58837986	A	G	LIPC	c.620A>G	NM_000236.3	NP_000227.2:p.(Asn207Ser)	NC_000015.9:g.58837986A>G	VUS	1 lab	a13e7132a5
15:45454578 DUOX1 G>A	15	45454578	45454578	G	A	DUOX1	c.4248+3G>A	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45454578G>A	(Likely) benign	1 lab	a13fba4d6d
12:53723061 SP7 T>C	12	53723061	53723061	T	C	SP7	c.165A>G	NM_001173467.3	NP_001166938.1:p.(Ser55=)	NC_000012.11:g.53723061T>C	(Likely) benign	1 lab	a16fe14478
14:21968617 MISSING Ref too long to show for this DEL>A	14	21968617	22011463	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.21968619_22011463del	VUS	1 lab	a1410fc126
3:38639476 SCN5A G>T	3	38639476	38639476	G	T	SCN5A	c.2024-18C>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38639476G>T	(Likely) benign	1 lab	a142a1e8f7
4:100137318 ADH6 C>T	4	100137318	100137318	C	T	ADH6	c.120G>A	NM_001102470.2	NP_001095940.1:p.(Lys40=)	NC_000004.11:g.100137318C>T	(Likely) benign	1 lab	a1439d2cfc
12:1995470 CACNA2D4 C>T	12	1995470	1995470	C	T	CACNA2D4	c.912G>A	NM_172364.5	NP_758952.4:p.(Gly304=)	NC_000012.11:g.1995470C>T	(Likely) benign	1 lab	a147b31bc5
16:15880388 MYH11 C>T	16	15880388	15880388	C	T	MYH11	c.633+99G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15880388C>T	(Likely) benign	1 lab	a148fb3d3e
1:66102617 LEPR A>G	1	66102617	66102617	A	G	LEPR	c.3417A>G	NM_002303.6	NP_002294.2:p.(Ala1139=)	NC_000001.10:g.66102617A>G	(Likely) benign	1 lab	a14926666c
9:137534052 COL5A1 T>C	9	137534052	137534052	T	C	COL5A1	c.19T>C	NM_000093.5	NP_000084.3:p.(Trp7Arg)	NC_000009.11:g.137534052T>C	VUS	1 lab	a14c59f2d0
9:79936415 VPS13A A>G	9	79936415	79936415	A	G	VPS13A	c.5466A>G	NM_001018037.2	NP_001018047.1:p.(Thr1822=)	NC_000009.11:g.79936415A>G	(Likely) benign	1 lab	a14e9efdc9
5:95734674 PCSK1 A>G	5	95734674	95734674	A	G	PCSK1	c.1497T>C	NM_000439.5	NP_000430.3:p.(Asn499=)	NC_000005.9:g.95734674A>G	(Likely) benign	1 lab	a14f5b9f60
1:78399001 NEXN C>G	1	78399001	78399001	C	G	NEXN	c.1088C>G	NM_144573.4	NP_653174.3:p.(Thr363Arg)	NC_000001.10:g.78399001C>G	VUS	1 lab	a1504d4141
19:1207075 STK11 C>T	19	1207075	1207075	C	T	STK11	c.163C>T	NM_000455.5	NP_000446.1:p.(Leu55=)	NC_000019.9:g.1207075C>T	(Likely) benign	1 lab	a1510f9d44
1:236922839 ACTN2 A>G	1	236922839	236922839	A	G	ACTN2	c.2302-185A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922839A>G	(Likely) benign	1 lab	a153788d99
2:44058891 ABCG5 CG>C	2	44058891	44058897	CG	C	ABCG5	c.501+16del	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44058897del	(Likely) benign	1 lab	a154254f5a
12:64849602 TBK1 AT>A	12	64849602	64849612	AT	A	TBK1	c.-31-8del	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64849612del	(Likely) benign	1 lab	a1549390eb
16:1584294 IFT140 C>T	16	1584294	1584294	C	T	IFT140	c.2400-7497G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1584294C>T	(Likely) benign	1 lab	a157798709
17:39976261 FKBP10 A>G	17	39976261	39976261	A	G	FKBP10	c.1064-260A>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976261A>G	(Likely) benign	1 lab	a15a2189fb
14:54418713 BMP4 A>T	14	54418713	54418713	A	T	BMP4	c.228T>A	NM_001347916.1	NP_001334845.1:p.(Ser76Arg)	NC_000014.8:g.54418713A>T	(Likely) benign	1 lab	a15a34fde0
11:684931 DEAF1 G>C	11	684931	684931	G	C	DEAF1	c.837C>G	NM_021008.4	NP_066288.2:p.(Cys279Trp)	NC_000011.9:g.684931G>C	(Likely) pathogenic	1 lab	a15e767919
9:101594103 GALNT12 G>A	9	101594103	101594103	G	A	GALNT12	c.781G>A	NM_024642.5	NP_078918.3:p.(Asp261Asn)	NC_000009.11:g.101594103G>A	(Likely) benign	1 lab	a16130e61a
16:20497956 ACSM2A C>T	16	20497956	20497956	C	T	ACSM2A	c.1690C>T	NM_001308954.2	NP_001295883.1:p.(Arg564Ter)	NC_000016.9:g.20497956C>T	VUS	1 lab	a161db6a04
2:21260121 APOB C>T	2	21260121	21260121	C	T	APOB	c.544G>A	NM_000384.3	NP_000375.3:p.(Val182Met)	NC_000002.11:g.21260121C>T	(Likely) benign	1 lab	a163a41c44
7:150652510 KCNH2 G>A	7	150652510	150652510	G	A	KCNH2	c.82C>T	NM_172057.3	NP_742054.1:p.(Arg28Cys)	NC_000007.13:g.150652510G>A	VUS	1 lab	a165634149
19:30435309 MISSING Ref too long to show for this DEL>A	19	30435309	32636106	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.30435311_32636106del	(Likely) pathogenic	1 lab	a166207d2e
2:179612887 TTN T>A	2	179612887	179612887	T	A	TTN	c.14240A>T	NM_133379.5	NP_596870.2:p.(Asp4747Val)	NC_000002.11:g.179612887T>A	(Likely) benign	1 lab	a1687dd523
21:44487623 CBS G>T	21	44487623	44487623	G	T	CBS	c.316+996C>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44487623G>T	(Likely) benign	1 lab	a16dbbccd9
X:153607863 EMD C>G	X	153607863	153607863	C	G	EMD	c.19C>G	NM_000117.3	NP_000108.1:p.(Leu7Val)	NC_000023.10:g.153607863C>G	VUS	1 lab	a16f800025
X:39922142 BCOR C>G	X	39922142	39922142	C	G	BCOR	c.4030G>C	NM_001123385.2	NP_001116857.1:p.(Ala1344Pro)	NC_000023.10:g.39922142C>G	VUS	1 lab	a17083d81e
8:10470527 RP1L1 C>T	8	10470527	10470527	C	T	RP1L1	c.1081G>A	NM_178857.6	NP_849188.4:p.(Glu361Lys)	NC_000008.10:g.10470527C>T	(Likely) benign	1 lab	a1712cd003
22:29126546 CHEK2 A>G	22	29126546	29126546	A	G	CHEK2	c.320-10T>C	NM_001005735.2	NP_001005735.1:p.?	NC_000022.10:g.29126546A>G	VUS	1 lab	a17319a652
12:125279967 SCARB1 TG>T	12	125279967	125279975	TG	T	SCARB1	c.1129-154del	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279975del	(Likely) benign	1 lab	a17549839b
2:219677684 CYP27A1 G>A	2	219677684	219677684	G	A	CYP27A1	c.882G>A	NM_000784.4	NP_000775.1:p.(Glu294=)	NC_000002.11:g.219677684G>A	(Likely) benign	1 lab	a179316db5
2:44066264 ABCG8 G>C	2	44066264	44066264	G	C	ABCG8	c.63+9G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066264G>C	(Likely) benign	1 lab	a1a7982a8a
5:149361376 SLC26A2 A>G	5	149361376	149361376	A	G	SLC26A2	c.2220A>G	NM_000112.4	NP_000103.2:p.(Ter740=)	NC_000005.9:g.149361376A>G	(Likely) benign	1 lab	a17c06017d
2:21234353 APOB G>C	2	21234353	21234353	G	C	APOB	c.5387C>G	NM_000384.3	NP_000375.3:p.(Thr1796Ser)	NC_000002.11:g.21234353G>C	VUS	1 lab	a17d168966
1:94568639 MISSING T>Alt too long to show for this DUP	1	94568639	94882008	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.94568640_94882008dup	VUS	1 lab	a17db4993b
19:47844483 C5AR2 T>A	19	47844483	47844483	T	A	C5AR2	c.427T>A	NM_001271749.2	NP_001258678.1:p.(Ser143Thr)	NC_000019.9:g.47844483T>A	VUS	1 lab	a17e78e039
2:21226075 APOB G>A	2	21226075	21226075	G	A	APOB	c.12219C>T	NM_000384.3	NP_000375.3:p.(Asn4073=)	NC_000002.11:g.21226075G>A	(Likely) benign	1 lab	a196a21e40
14:102910060 TECPR2 G>A	14	102910060	102910060	G	A	TECPR2	c.2829G>A	NM_014844.5	NP_055659.2:p.(Arg943=)	NC_000014.8:g.102910060G>A	(Likely) benign	1 lab	a186bd15d0
1:211832061 NEK2 C>CAAAAAA	1	211832061	211832090	C	CAAAAAA	NEK2	c.1112-13_1112-8dup	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832085_211832090dup	(Likely) benign	1 lab	a1888efb74
X:53421723 SMC1A T>C	X	53421723	53421723	T	C	SMC1A	c.2882A>G	NM_001281463.1	NP_001268392.1:p.(Tyr961Cys)	NC_000023.10:g.53421723T>C	VUS	1 lab	a188a22c81
20:83112 MISSING Ref too long to show for this DEL>G	20	83112	488496	Ref too long to show for this DEL	G	MISSING				NC_000020.10:g.83113_488496del	(Likely) pathogenic	1 lab	a18b6b1f41
12:21370038 SLCO1B1 T>C	12	21370038	21370038	T	C	SLCO1B1	c.1498-15T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370038T>C	(Likely) benign	1 lab	a18d0223bc
17:63221258 RGS9 C>T	17	63221258	63221258	C	T	RGS9	c.1546C>T	NM_003835.4	NP_003826.2:p.(Arg516Ter)	NC_000017.10:g.63221258C>T	VUS	1 lab	a18d85c32d
2:179482075 TTN G>A	2	179482075	179482075	G	A	TTN	c.47737C>T	NM_001267550.2	NP_001254479.2:p.(Leu15913Phe)	NC_000002.11:g.179482075G>A	(Likely) benign	1 lab	a1930ee18d
6:56505025 DST A>C	6	56505025	56505025	A	C	DST	c.2307T>G	NM_001144769.5	NP_001138241.1:p.(Ser769=)	NC_000006.11:g.56505025A>C	(Likely) benign	1 lab	a195240c4d
2:219506849 ZNF142 G>A	2	219506849	219506849	G	A	ZNF142	c.4390C>T	NM_001105537.4	NP_001099007.1:p.(Arg1464Ter)	NC_000002.11:g.219506849G>A	(Likely) pathogenic	1 lab	a19817e0ea
X:48336846 FTSJ1 G>A	X	48336846	48336846	G	A	FTSJ1	c.131G>A	NM_177439.3	NP_803188.1:p.(Arg44Gln)	NC_000023.10:g.48336846G>A	VUS	1 lab	a1981e117e
2:44055527 ABCG5 T>C	2	44055527	44055527	T	C	ABCG5	c.502-273A>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055527T>C	(Likely) benign	1 lab	a19af0a312
16:67974074 LCAT G>A	16	67974074	67974074	G	A	LCAT	c.1056C>T	NM_000229.2	NP_000220.1:p.(Asp352=)	NC_000016.9:g.67974074G>A	(Likely) benign	1 lab	a19d47c150
9:133901668 LAMC3 G>T	9	133901668	133901668	G	T	LAMC3	c.374-4G>T	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133901668G>T	(Likely) benign	1 lab	a19d609157
17:39912071 JUP A>G	17	39912071	39912071	A	G	JUP	c.2163T>C	NM_002230.4	NP_002221.1:p.(Asp721=)	NC_000017.10:g.39912071A>G	(Likely) benign	1 lab	a19e90a81d
8:59407143 CYP7A1 T>C	8	59407143	59407143	T	C	CYP7A1	c.961A>G	NM_000780.4	NP_000771.2:p.(Asn321Asp)	NC_000008.10:g.59407143T>C	VUS	1 lab	a1a1f8a2dc
9:2729569 KCNV2 A>C	9	2729569	2729569	A	C	KCNV2	c.1480A>C	NM_133497.4	NP_598004.1:p.(Asn494His)	NC_000009.11:g.2729569A>C	VUS	1 lab	a1a836a7ba
16:960911 LMF1 C>T	16	960911	960911	C	T	LMF1	c.264+20G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960911C>T	(Likely) benign	1 lab	a1ae8451bd
14:77896048 VIPAS39 C>T	14	77896048	77896048	C	T	VIPAS39	c.1242G>A	NM_001193314.2	NP_001180243.1:p.(Leu414=)	NC_000014.8:g.77896048C>T	(Likely) benign	1 lab	a1af8752e0
2:179411194 TTN C>T	2	179411194	179411194	C	T	TTN	c.94864G>A	NM_001267550.2	NP_001254479.2:p.(Gly31622Ser)	NC_000002.11:g.179411194C>T	VUS	1 lab	a1bb0cd8db
11:47364991 MYBPC3 C>G	11	47364991	47364991	C	G	MYBPC3	c.1223+52G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364991C>G	(Likely) benign	1 lab	a1bd8d7201
15:58840587 LIPC C>A	15	58840587	58840587	C	A	LIPC	c.867C>A	NM_000236.3	NP_000227.2:p.(Ser289=)	NC_000015.9:g.58840587C>A	(Likely) benign	1 lab	a1be158465
15:72639003 HEXA T>C	15	72639003	72639003	T	C	HEXA	c.1228A>G	NM_001318825.2	NP_001305754.1:p.(Asn410Asp)	NC_000015.9:g.72639003T>C	(Likely) benign	1 lab	a1c542b6c0
8:117874317 RAD21 C>G	8	117874317	117874317	C	G	RAD21	c.275-138G>C	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117874317C>G	(Likely) benign	1 lab	a1c64d93a5
15:67479854 SMAD3 T>G	15	67479854	67479854	T	G	SMAD3	c.1154+7T>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67479854T>G	(Likely) benign	1 lab	a1c7af112a
15:42180134 SPTBN5 A>G	15	42180134	42180134	A	G	SPTBN5	c.651T>C	NM_016642.4	NP_057726.4:p.(His217=)	NC_000015.9:g.42180134A>G	(Likely) benign	1 lab	a1c9604662
7:70254866 AUTS2 C>T	7	70254866	70254866	C	T	AUTS2	c.2592C>T	NM_001127231.3	NP_001120703.1:p.(Asp864=)	NC_000007.13:g.70254866C>T	(Likely) benign	1 lab	a1d742b0f7
8:19813702 LPL G>A	8	19813702	19813702	G	A	LPL	c.1018+108G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813702G>A	(Likely) benign	1 lab	a1d981e419
20:5086918 TMEM230 G>A	20	5086918	5086918	G	A	TMEM230	c.327C>T	NM_001009923.2	NP_001009923.1:p.(Ile109=)	NC_000020.10:g.5086918G>A	(Likely) benign	1 lab	a1dc5e5d94
8:1905157 ARHGEF10 G>A	8	1905157	1905157	G	A	ARHGEF10	c.3835G>A	NM_001308153.2	NP_001295082.1:p.(Asp1279Asn)	NC_000008.10:g.1905157G>A	(Likely) benign	1 lab	a1df7771d9
7:128482387 FLNC A>G	7	128482387	128482387	A	G	FLNC	c.2224A>G	NM_001458.5	NP_001449.3:p.(Ile742Val)	NC_000007.13:g.128482387A>G	VUS	1 lab	a1e078f50b
X:153265745 MISSING G>Alt too long to show for this DUP	X	153265745	153545500	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153265747_153545500dup	(Likely) pathogenic	1 lab	a1e61bddfc
12:125298843 SCARB1 T>C	12	125298843	125298843	T	C	SCARB1	c.535A>G	NM_001367981.1	NP_001354910.1:p.(Ile179Val)	NC_000012.11:g.125298843T>C	VUS	1 lab	a1e9c739ec
4:114251389 ANK2 T>C	4	114251389	114251389	T	C	ANK2	c.2901-13T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114251389T>C	(Likely) benign	1 lab	a1ef07311e
2:179621398 TTN T>C	2	179621398	179621398	T	C	TTN	c.10805A>G	NM_001267550.2	NP_001254479.2:p.(Gln3602Arg)	NC_000002.11:g.179621398T>C	(Likely) benign	1 lab	a1f0b713dc
11:134010722 JAM3 A>G	11	134010722	134010722	A	G	JAM3	c.256+57A>G	NM_032801.5	NP_116190.3:p.?	NC_000011.9:g.134010722A>G	(Likely) benign	1 lab	a1f0d72e9d
1:216219863 USH2A T>C	1	216219863	216219863	T	C	USH2A	c.6235A>G	NM_206933.4	NP_996816.3:p.(Lys2079Glu)	NC_000001.10:g.216219863T>C	VUS	1 lab	a1f0ee93e8
6:106969202 CRYBG1 T>A	6	106969202	106969202	T	A	CRYBG1	c.4119T>A	NM_001371242.2	NP_001358171.1:p.(Ile1373=)	NC_000006.11:g.106969202T>A	(Likely) benign	1 lab	a1f438643b
2:21227232 APOB G>A	2	21227232	21227232	G	A	APOB	c.11996C>T	NM_000384.3	NP_000375.3:p.(Thr3999Ile)	NC_000002.11:g.21227232G>A	VUS	1 lab	a1f7e1219b
2:179447016 TTN T>G	2	179447016	179447016	T	G	TTN	c.66160+7A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179447016T>G	(Likely) benign	1 lab	a1fb811755
10:92676031 ANKRD1 A>AC	10	92676031	92676033	A	AC	ANKRD1	c.553-6dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92676033dup	VUS	1 lab	a1ffb76f42
2:21229679 APOB G>C	2	21229679	21229679	G	C	APOB	c.10061C>G	NM_000384.3	NP_000375.3:p.(Ala3354Gly)	NC_000002.11:g.21229679G>C	VUS	1 lab	a2022438aa
2:219646901 CYP27A1 A>T	2	219646901	219646901	A	T	CYP27A1	c.-5A>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646901A>T	VUS	1 lab	a204a6cf47
10:90987991 LIPA G>C	10	90987991	90987991	G	C	LIPA	c.394C>G	NM_000235.4	NP_000226.2:p.(Leu132Val)	NC_000010.10:g.90987991G>C	VUS	1 lab	a204bfbec2
16:88503400 ZNF469 C>T	16	88503400	88503400	C	T	ZNF469	c.9522C>T	NM_001367624.2	NP_001354553.1:p.(Pro3174=)	NC_000016.9:g.88503400C>T	(Likely) benign	1 lab	a208c3de37
6:75847064 COL12A1 A>C	6	75847064	75847064	A	C	COL12A1	c.5394+89T>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75847064A>C	(Likely) benign	1 lab	a208e6879a
14:23901679 MYH7 T>A	14	23901679	23901679	T	A	MYH7	c.530+9A>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23901679T>A	(Likely) benign	1 lab	a208f4e3b1
X:152770230 BGN G>A	X	152770230	152770230	G	A	BGN	c.141G>A	NM_001711.6	NP_001702.1:p.(Ser47=)	NC_000023.10:g.152770230G>A	(Likely) benign	1 lab	a20b1fdf3c
11:76867057 MYO7A G>GC	11	76867057	76867064	G	GC	MYO7A	c.397dup	NM_000260.4	NP_000251.3:p.(His133ProfsTer7)	NC_000011.9:g.76867064dup	(Likely) pathogenic	1 lab	a20b92812d
16:82166400 MISSING Ref too long to show for this DEL>C	16	82166400	86122957	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.82166401_86122957del	(Likely) pathogenic	1 lab	a20cfb328a
9:107591116 ABCA1 T>C	9	107591116	107591116	T	C	ABCA1	c.2115+81A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591116T>C	(Likely) benign	1 lab	a20e1e2869
2:220497046 SLC4A3 G>A	2	220497046	220497046	G	A	SLC4A3	c.1104G>A	NM_201574.3	NP_963868.3:p.(Thr368=)	NC_000002.11:g.220497046G>A	(Likely) benign	1 lab	a213363e79
3:50380619 ZMYND10 C>A	3	50380619	50380619	C	A	ZMYND10	c.529G>T	NM_015896.4	NP_056980.2:p.(Glu177Ter)	NC_000003.11:g.50380619C>A	(Likely) pathogenic	1 lab	a217ad2c3c
12:64873821 TBK1 G>A	12	64873821	64873821	G	A	TBK1	c.731G>A	NM_013254.4	NP_037386.1:p.(Gly244Asp)	NC_000012.11:g.64873821G>A	(Likely) pathogenic	1 lab	a219b77edb
2:21236221 APOB G>A	2	21236221	21236221	G	A	APOB	c.4027C>T	NM_000384.3	NP_000375.3:p.(Pro1343Ser)	NC_000002.11:g.21236221G>A	VUS	1 lab	a219b7ba49
8:42798539 HOOK3 G>A	8	42798539	42798539	G	A	HOOK3	c.351G>A	NM_032410.4	NP_115786.1:p.(Arg117=)	NC_000008.10:g.42798539G>A	(Likely) benign	1 lab	a21b7b9ecd
1:74797154 FPGT-TNNI3K A>G	1	74797154	74797154	A	G	FPGT-TNNI3K	c.768A>G	NM_001112808.3	NP_001106279.3:p.(Gln256=)	NC_000001.10:g.74797154A>G	(Likely) benign	1 lab	a2218512cf
4:185418247 MISSING Ref too long to show for this DEL>T	4	185418247	186178155	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.185418253_186178155del	(Likely) pathogenic	1 lab	a2230e5b65
X:32383295 DMD T>C	X	32383295	32383295	T	C	DMD	c.4867A>G	NM_004006.3	NP_003997.2:p.(Lys1623Glu)	NC_000023.10:g.32383295T>C	VUS	1 lab	a2242f1f14
17:7788382 CHD3 G>GCCGCCGCCC	17	7788382	7788399	G	GCCGCCGCCC	CHD3	c.267_275dup	NM_001005271.3	NP_001005271.2:p.(Pro90_Pro92dup)	NC_000017.10:g.7788391_7788399dup	(Likely) benign	1 lab	a2245d998f
16:943060 LMF1 T>A	16	943060	943060	T	A	LMF1	c.676A>T	NM_022773.4	NP_073610.2:p.(Ile226Phe)	NC_000016.9:g.943060T>A	VUS	1 lab	a228109ebf
14:100808845 WARS1 G>A	14	100808845	100808845	G	A	WARS1	c.1003C>T	NM_004184.4	NP_004175.2:p.(Leu335=)	NC_000014.8:g.100808845G>A	(Likely) benign	1 lab	a229eb7d27
X:39923678 BCOR A>G	X	39923678	39923678	A	G	BCOR	c.3413T>C	NM_001123385.2	NP_001116857.1:p.(Val1138Ala)	NC_000023.10:g.39923678A>G	(Likely) benign	1 lab	a22a32c045
7:128494938 FLNC C>T	7	128494938	128494938	C	T	FLNC	c.7107C>T	NM_001458.5	NP_001449.3:p.(Cys2369=)	NC_000007.13:g.128494938C>T	(Likely) benign	1 lab	a22c0ae381
1:55521899 PCSK9 GGGGCGGA>G	1	55521899	55521923	GGGGCGGA	G	PCSK9	c.996+55_996+61del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521917_55521923del	(Likely) benign	1 lab	a232816efd
16:86601376 FOXC2 C>G	16	86601376	86601376	C	G	FOXC2	c.435C>G	NM_005251.3	NP_005242.1:p.(Tyr145Ter)	NC_000016.9:g.86601376C>G	(Likely) pathogenic	1 lab	a233d9cdc1
X:9659707 TBL1X G>A	X	9659707	9659707	G	A	TBL1X	c.705G>A	NM_005647.4	NP_005638.1:p.(Val235=)	NC_000023.10:g.9659707G>A	VUS	1 lab	a237c45f8f
9:107578618 ABCA1 C>T	9	107578618	107578618	C	T	ABCA1	c.3544G>A	NM_005502.4	NP_005493.2:p.(Ala1182Thr)	NC_000009.11:g.107578618C>T	(Likely) benign	1 lab	a23c43ea79
3:8814696 MISSING C>Alt too long to show for this DUP	3	8814696	9012839	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.8814698_9012839dup	VUS	1 lab	a23c66abe6
9:7089254 KDM4C Ref too long to show for this DEL>T	9	7089254	7104376	Ref too long to show for this DEL	T	KDM4C	c.2425-14425_2610+506del	NM_015061.6	NP_055876.2:p.?	NC_000009.11:g.7089260_7104376del	VUS	1 lab	a23c66b828
3:123376125 MYLK T>G	3	123376125	123376125	T	G	MYLK	c.4136A>C	NM_053025.4	NP_444253.3:p.(Lys1379Thr)	NC_000003.11:g.123376125T>G	VUS	1 lab	a23daa1868
14:74969904 LTBP2 C>T	14	74969904	74969904	C	T	LTBP2	c.4888+18G>A	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74969904C>T	(Likely) benign	1 lab	a23dd435f9
13:32914635 BRCA2 A>G	13	32914635	32914635	A	G	BRCA2	c.6143A>G	NM_000059.4	NP_000050.3:p.(Asn2048Ser)	NC_000013.10:g.32914635A>G	(Likely) benign	1 lab	a2402adcc7
12:125302097 SCARB1 T>C	12	125302097	125302097	T	C	SCARB1	c.283A>G	NM_001367981.1	NP_001354910.1:p.(Arg95Gly)	NC_000012.11:g.125302097T>C	VUS	1 lab	a24071cd47
1:112524232 KCND3 C>T	1	112524232	112524232	C	T	KCND3	c.1106+11G>A	NM_004980.5	NP_004971.2:p.?	NC_000001.10:g.112524232C>T	(Likely) benign	1 lab	a241876cb4
7:81579838 CACNA2D1 AAAAAG>A	7	81579838	81579850	AAAAAG	A	CACNA2D1	c.3160-19_3160-15del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81579846_81579850del	(Likely) benign	1 lab	a241a977f7
9:137710573 COL5A1 C>T	9	137710573	137710573	C	T	COL5A1	c.4302C>T	NM_000093.5	NP_000084.3:p.(Pro1434=)	NC_000009.11:g.137710573C>T	(Likely) benign	1 lab	a2440244b8
7:129907471 MISSING G>Alt too long to show for this DUP	7	129907471	129964282	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.129907472_129964282dup	VUS	1 lab	a244210b49
3:63981657 ATXN7 C>G	3	63981657	63981657	C	G	ATXN7	c.2159C>G	NM_000333.4	NP_000324.1:p.(Ser720Cys)	NC_000003.11:g.63981657C>G	(Likely) benign	1 lab	a246544052
3:148926009 MISSING C>Alt too long to show for this DUP	3	148926009	148952266	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.148926011_148952266dup	VUS	1 lab	a246c7ede9
12:21353872 SLCO1B1 A>G	12	21353872	21353872	A	G	SLCO1B1	c.1135+266A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353872A>G	(Likely) benign	1 lab	a24a57d967
11:108127037 ATM A>G	11	108127037	108127037	A	G	ATM	c.2220A>G	NM_000051.4	NP_000042.3:p.(Ala740=)	NC_000011.9:g.108127037A>G	(Likely) benign	1 lab	a24bc81087
X:29642295 IL1RAPL1 Ref too long to show for this DEL>T	X	29642295	29662532	Ref too long to show for this DEL	T	IL1RAPL1	c.704-44251_704-24015del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29642296_29662532del	VUS	1 lab	a24e1e2052
7:24783691 MISSING Ref too long to show for this DEL>A	7	24783691	24911069	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.24783693_24911069del	VUS	1 lab	a251ffaf1e
15:85401188 ALPK3 C>T	15	85401188	85401188	C	T	ALPK3	c.3219C>T	NM_020778.5	NP_065829.4:p.(Ala1073=)	NC_000015.9:g.85401188C>T	(Likely) benign	1 lab	a256c56c78
8:134024278 TG C>T	8	134024278	134024278	C	T	TG	c.6395C>T	NM_003235.5	NP_003226.4:p.(Ser2132Leu)	NC_000008.10:g.134024278C>T	(Likely) benign	1 lab	a2613fe45f
11:68703775 IGHMBP2 G>A	11	68703775	68703775	G	A	IGHMBP2	c.1827G>A	NM_002180.3	NP_002171.2:p.(Ala609=)	NC_000011.9:g.68703775G>A	(Likely) benign	1 lab	a2626216c6
4:154216548 TRIM2 C>T	4	154216548	154216548	C	T	TRIM2	c.789C>T	NM_001130067.2	NP_001123539.1:p.(Asn263=)	NC_000004.11:g.154216548C>T	(Likely) benign	1 lab	a26679367e
3:141326602 RASA2 T>C	3	141326602	141326602	T	C	RASA2	c.2028T>C	NM_001303246.3	NP_001290175.1:p.(Asn676=)	NC_000003.11:g.141326602T>C	(Likely) benign	1 lab	a268f4a4db
11:95595495 MTMR2 C>T	11	95595495	95595495	C	T	MTMR2	c.82G>A	NM_001243571.2	NP_001230500.1:p.(Ala28Thr)	NC_000011.9:g.95595495C>T	VUS	1 lab	a2693b7c4b
19:50762417 MYH14 C>T	19	50762417	50762417	C	T	MYH14	c.2249C>T	NM_001145809.2	NP_001139281.1:p.(Pro750Leu)	NC_000019.9:g.50762417C>T	VUS	1 lab	a26aa45bc6
2:219679475 CYP27A1 G>A	2	219679475	219679475	G	A	CYP27A1	c.1471G>A	NM_000784.4	NP_000775.1:p.(Ala491Thr)	NC_000002.11:g.219679475G>A	(Likely) benign	1 lab	a26f05d27a
2:21233513 APOB G>A	2	21233513	21233513	G	A	APOB	c.6227C>T	NM_000384.3	NP_000375.3:p.(Thr2076Ile)	NC_000002.11:g.21233513G>A	VUS	1 lab	a26f805adc
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+50_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524370_55524391del	(Likely) benign	1 lab	a2714d4d2a
9:101904560 TGFBR1 T>G	9	101904560	101904560	T	G	TGFBR1	c.806-258T>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101904560T>G	(Likely) benign	1 lab	a27c70d196
9:12772470 MISSING Ref too long to show for this DEL>A	9	12772470	12872744	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.12772472_12872744del	VUS	1 lab	a27ca63336
15:85400858 ALPK3 C>G	15	85400858	85400858	C	G	ALPK3	c.2889C>G	NM_020778.5	NP_065829.4:p.(Tyr963Ter)	NC_000015.9:g.85400858C>G	(Likely) pathogenic	1 lab	a27d1811fd
2:179486590 TTN G>T	2	179486590	179486590	G	T	TTN	c.45059C>A	NM_001267550.2	NP_001254479.2:p.(Thr15020Asn)	NC_000002.11:g.179486590G>T	VUS	1 lab	a27d1e960a
5:65349772 ERBIN A>G	5	65349772	65349772	A	G	ERBIN	c.2626A>G	NM_001253699.2	NP_001240628.1:p.(Met876Val)	NC_000005.9:g.65349772A>G	VUS	1 lab	a2811a97d5
3:123356799 MYLK G>T	3	123356799	123356799	G	T	MYLK	c.4961+119C>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123356799G>T	(Likely) benign	1 lab	a282733a73
2:121746570 GLI2 G>A	2	121746570	121746570	G	A	GLI2	c.3080G>A	NM_005270.5	NP_005261.2:p.(Arg1027Gln)	NC_000002.11:g.121746570G>A	VUS	1 lab	a2827fb7fd
7:128034494 IMPDH1 C>T	7	128034494	128034494	C	T	IMPDH1	c.1694+16G>A	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128034494C>T	(Likely) benign	1 lab	a2877e4a4d
6:79752596 PHIP A>G	6	79752596	79752596	A	G	PHIP	c.564T>C	NM_017934.7	NP_060404.4:p.(Cys188=)	NC_000006.11:g.79752596A>G	(Likely) benign	1 lab	a28b73ef81
1:160011189 KCNJ10 A>G	1	160011189	160011189	A	G	KCNJ10	c.1134T>C	NM_002241.5	NP_002232.2:p.(Asn378=)	NC_000001.10:g.160011189A>G	(Likely) benign	1 lab	a28d5cb3f3
9:79959191 VPS13A T>C	9	79959191	79959191	T	C	VPS13A	c.7149T>C	NM_033305.3	NP_150648.2:p.(Asp2383=)	NC_000009.11:g.79959191T>C	(Likely) benign	1 lab	a28f95abf5
1:240371154 FMN2 T>A	1	240371154	240371154	T	A	FMN2	c.3054T>A	NM_001305424.2	NP_001292353.1:p.(Leu1018=)	NC_000001.10:g.240371154T>A	(Likely) benign	1 lab	a290195f4d
15:58834777 LIPC C>T	15	58834777	58834777	C	T	LIPC	c.501C>T	NM_000236.3	NP_000227.2:p.(Tyr167=)	NC_000015.9:g.58834777C>T	(Likely) benign	1 lab	a299bb63b1
6:112460429 LAMA4 C>T	6	112460429	112460429	C	T	LAMA4	c.3175G>A	NM_001105206.3	NP_001098676.2:p.(Val1059Met)	NC_000006.11:g.112460429C>T	(Likely) benign	1 lab	a29d961b4a
11:47359318 MYBPC3 T>C	11	47359318	47359318	T	C	MYBPC3	c.2336A>G	NM_000256.3	NP_000247.2:p.(Lys779Arg)	NC_000011.9:g.47359318T>C	VUS	1 lab	a2a0e4a9b2
8:144297131 GPIHBP1 C>T	8	144297131	144297131	C	T	GPIHBP1	c.296-3C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297131C>T	(Likely) benign	1 lab	a2a369f6f9
2:98994199 CNGA3 G>A	2	98994199	98994199	G	A	CNGA3	c.151G>A	NM_001298.3	NP_001289.1:p.(Ala51Thr)	NC_000002.11:g.98994199G>A	(Likely) benign	1 lab	a2a4a65ee1
14:75506586 MLH3 T>A	14	75506586	75506586	T	A	MLH3	c.3570+28A>T	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506586T>A	(Likely) benign	1 lab	a2b3385092
16:28877637 SH2B1 G>A	16	28877637	28877637	G	A	SH2B1	c.222G>A	NM_015503.3	NP_056318.2:p.(Gln74=)	NC_000016.9:g.28877637G>A	(Likely) benign	1 lab	a2a8d71010
16:70954747 HYDIN C>T	16	70954747	70954747	C	T	HYDIN	c.7532G>A	NM_001270974.2	NP_001257903.1:p.(Arg2511Gln)	NC_000016.9:g.70954747C>T	VUS	1 lab	a2a915fc82
15:85360451 ALPK3 C>T	15	85360451	85360451	C	T	ALPK3				NC_000015.9:g.85360451C>T	(Likely) benign	1 lab	a2a9ab93fa
11:47359453 MYBPC3 A>C	11	47359453	47359453	A	C	MYBPC3	c.2309-108T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359453A>C	(Likely) benign	1 lab	a2aad3428c
2:179481661 TTN T>C	2	179481661	179481661	T	C	TTN	c.47955A>G	NM_001267550.2	NP_001254479.2:p.(Pro15985=)	NC_000002.11:g.179481661T>C	(Likely) benign	1 lab	a2abe55ad9
3:50231532 GNAT1 G>A	3	50231532	50231532	G	A	GNAT1	c.586G>A	NM_144499.3	NP_653082.1:p.(Asp196Asn)	NC_000003.11:g.50231532G>A	VUS	1 lab	a2acab9773
2:179501247 TTN G>T	2	179501247	179501247	G	T	TTN	c.41207C>A	NM_001267550.2	NP_001254479.2:p.(Ala13736Glu)	NC_000002.11:g.179501247G>T	VUS	1 lab	a2acff445a
X:153607856 EMD C>T	X	153607856	153607856	C	T	EMD	c.12C>T	NM_000117.3	NP_000108.1:p.(Tyr4=)	NC_000023.10:g.153607856C>T	(Likely) benign	1 lab	a2b023781d
1:65830298 DNAJC6 T>TG	1	65830298	65830299	T	TG	DNAJC6	c.194-20_194-19insG	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830298_65830299insG	(Likely) benign	1 lab	a2b142ea37
17:48276598 COL1A1 CA>C	17	48276598	48276599	CA	C	COL1A1	c.459del	NM_000088.4	NP_000079.2:p.(Gly154AlafsTer111)	NC_000017.10:g.48276599del	(Likely) pathogenic	1 lab	a2b1826d41
9:8198155 MISSING Ref too long to show for this DEL>C	9	8198155	8396504	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.8198159_8396504del	VUS	1 lab	a2b30e7a3b
9:107594515 ABCA1 A>G	9	107594515	107594515	A	G	ABCA1	c.1509+340T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594515A>G	(Likely) benign	1 lab	a2bb0abd75
10:75830572 VCL G>A	10	75830572	75830572	G	A	VCL	c.384G>A	NM_003373.4	NP_003364.1:p.(Glu128=)	NC_000010.10:g.75830572G>A	(Likely) benign	1 lab	a2c38bc316
4:153332910 FBXW7 C>CAGG	4	153332910	153332913	C	CAGG	FBXW7	c.45_46insCCT	NM_033632.3	NP_361014.1:p.(Thr15_Gly16insPro)	NC_000004.11:g.153332912_153332913insGAG	(Likely) benign	1 lab	a2c3a3e466
3:179493579 MISSING C>Alt too long to show for this DUP	3	179493579	179594905	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.179493581_179594905dup	VUS	1 lab	a2c4951614
12:33030983 PKP2 C>A	12	33030983	33030983	C	A	PKP2	c.831G>T	NM_004572.4	NP_004563.2:p.(Leu277=)	NC_000012.11:g.33030983C>A	(Likely) benign	1 lab	a2c5b6e54e
9:113192655 SVEP1 T>G	9	113192655	113192655	T	G	SVEP1	c.5429A>C	NM_153366.4	NP_699197.3:p.(Glu1810Ala)	NC_000009.11:g.113192655T>G	(Likely) benign	1 lab	a2cc2b1dc3
2:68679744 MISSING Ref too long to show for this DEL>A	2	68679744	68701807	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.68679745_68701807del	VUS	1 lab	a2ce187f53
3:142810798 MISSING T>Alt too long to show for this DUP	3	142810798	143592248	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.142810799_143592248dup	VUS	1 lab	a2ce8d9ea1
8:19796821 LPL GC>G	8	19796821	19796824	GC	G	LPL	c.-128del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796824del	VUS	1 lab	a2cec26c2d
X:70444572 GJB1 G>T	X	70444572	70444572	G	T	GJB1	c.*163G>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70444572G>T	(Likely) benign	1 lab	a2d110d5ef
1:236902792 ACTN2 A>T	1	236902792	236902792	A	T	ACTN2	c.443A>T	NM_001278344.2	NP_001265273.1:p.(Asn148Ile)	NC_000001.10:g.236902792A>T	VUS	1 lab	a2d5a22a6c
16:180582 NPRL3 G>A	16	180582	180582	G	A	NPRL3	c.127C>T	NM_001243249.2	NP_001230178.1:p.(Arg43Cys)	NC_000016.9:g.180582G>A	VUS	1 lab	a2d8cb5aaa
6:123600192 TRDN A>G	6	123600192	123600192	A	G	TRDN	c.1537+9T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123600192A>G	(Likely) benign	1 lab	a2d9099d9a
3:148905885 CP C>T	3	148905885	148905885	C	T	CP	c.1818G>A	NM_000096.4	NP_000087.2:p.(Gln606=)	NC_000003.11:g.148905885C>T	(Likely) benign	1 lab	a2d91564a8
7:65726500 MISSING Ref too long to show for this DEL>C	7	65726500	66611604	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.65726502_66611604del	(Likely) pathogenic	1 lab	a2db7d611a
19:11200228 LDLR G>C	19	11200228	11200228	G	C	LDLR	c.4G>C	NM_000527.5	NP_000518.1:p.(Gly2Arg)	NC_000019.9:g.11200228G>C	VUS	1 lab	a2e9cdd502
3:178937838 PIK3CA A>G	3	178937838	178937838	A	G	PIK3CA	c.2013A>G	NM_006218.4	NP_006209.2:p.(Leu671=)	NC_000003.11:g.178937838A>G	(Likely) benign	1 lab	a2ebc9be86
2:179455411 TTN A>G	2	179455411	179455411	A	G	TTN	c.61041T>C	NM_001267550.2	NP_001254479.2:p.(Ala20347=)	NC_000002.11:g.179455411A>G	(Likely) benign	1 lab	a2f1092692
2:21231476 APOB A>G	2	21231476	21231476	A	G	APOB	c.8264T>C	NM_000384.3	NP_000375.3:p.(Phe2755Ser)	NC_000002.11:g.21231476A>G	VUS	1 lab	a2f4bd492f
2:135369285 MISSING Ref too long to show for this DEL>A	2	135369285	135503268	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.135369286_135503268del	VUS	1 lab	a2f65d2167
19:853024 ELANE G>T	19	853024	853024	G	T	ELANE	c.216G>T	NM_001972.4	NP_001963.1:p.(Val72=)	NC_000019.9:g.853024G>T	(Likely) benign	1 lab	a2f69a7e9d
22:51017664 CHKB GAACCGAGACTGGGCATAGTCCTAGGGAAGGA>G	22	51017664	51017699	GAACCGAGACTGGGCATAGTCCTAGGGAAGGA	G	CHKB	c.1114-11_1133del	NM_005198.5	NP_005189.2:p.?	NC_000022.10:g.51017669_51017699del	(Likely) pathogenic	1 lab	a2f82bca02
1:151372545 PSMB4 TC>T	1	151372545	151372547	TC	T	PSMB4	c.231del	NM_002796.3	NP_002787.2:p.(Leu78TrpfsTer31)	NC_000001.10:g.151372547del	(Likely) pathogenic	1 lab	a2fc1968e7
9:108483959 TMEM38B C>A	9	108483959	108483959	C	A	TMEM38B	c.411C>A	NM_018112.3	NP_060582.1:p.(Tyr137Ter)	NC_000009.11:g.108483959C>A	(Likely) pathogenic	1 lab	a2fd185e78
12:49420010 KMT2D C>T	12	49420010	49420010	C	T	KMT2D	c.15739G>A	NM_003482.4	NP_003473.3:p.(Glu5247Lys)	NC_000012.11:g.49420010C>T	(Likely) pathogenic	1 lab	a2fe08fc58
4:113578482 LARP7 G>GA	4	113578482	113578492	G	GA	LARP7	c.*9dup	NM_001267039.2	NP_001253968.1:p.?	NC_000004.11:g.113578492dup	(Likely) benign	1 lab	a2fe194169
9:77257448 RORB T>C	9	77257448	77257448	T	C	RORB	c.354T>C	NM_006914.4	NP_008845.2:p.(Leu118=)	NC_000009.11:g.77257448T>C	(Likely) benign	1 lab	a30036e8e7
2:141625834 LRP1B TA>T	2	141625834	141625853	TA	T	LRP1B	c.4170-3del	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141625853del	(Likely) benign	1 lab	a30061a18f
11:45939320 PEX16 C>T	11	45939320	45939320	C	T	PEX16	c.43G>A	NM_004813.4	NP_004804.2:p.(Val15Met)	NC_000011.9:g.45939320C>T	VUS	1 lab	a300920397
9:137702324 COL5A1 C>T	9	137702324	137702324	C	T	COL5A1	c.3528+170C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137702324C>T	(Likely) benign	1 lab	a307ab48cd
8:144295834 GPIHBP1 G>A	8	144295834	144295834	G	A	GPIHBP1	c.181+9G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295834G>A	(Likely) benign	1 lab	a309baf1b5
8:1655429 MISSING T>Alt too long to show for this DUP	8	1655429	1791391	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1655431_1791391dup	VUS	1 lab	a30b66ae80
3:38752350 SCN10A A>G	3	38752350	38752350	A	G	SCN10A	c.4128T>C	NM_006514.4	NP_006505.4:p.(Ala1376=)	NC_000003.11:g.38752350A>G	(Likely) benign	1 lab	a30c68558c
2:228742611 DAW1 Ref too long to show for this DEL>G	2	228742611	228754349	Ref too long to show for this DEL	G	DAW1	c.40+6167_114-223del	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228742612_228754349del	VUS	1 lab	a30e1f2386
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	a31248393a
15:58834094 LIPC C>T	15	58834094	58834094	C	T	LIPC	c.384C>T	NM_000236.3	NP_000227.2:p.(Asp128=)	NC_000015.9:g.58834094C>T	(Likely) benign	1 lab	a3130ef323
X:70443997 GJB1 C>A	X	70443997	70443997	C	A	GJB1	c.440C>A	NM_000166.6	NP_000157.1:p.(Ala147Asp)	NC_000023.10:g.70443997C>A	(Likely) pathogenic	1 lab	a317372d32
9:107651357 ABCA1 C>T	9	107651357	107651357	C	T	ABCA1	c.160+26G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651357C>T	(Likely) benign	1 lab	a3194c35ac
2:21228052 APOB G>A	2	21228052	21228052	G	A	APOB	c.11688C>T	NM_000384.3	NP_000375.3:p.(Ala3896=)	NC_000002.11:g.21228052G>A	(Likely) benign	1 lab	a320267be7
14:102516832 DYNC1H1 G>A	14	102516832	102516832	G	A	DYNC1H1	c.13873G>A	NM_001376.5	NP_001367.2:p.(Glu4625Lys)	NC_000014.8:g.102516832G>A	(Likely) benign	1 lab	a320cde194
16:88502412 ZNF469 G>T	16	88502412	88502412	G	T	ZNF469	c.8534G>T	NM_001367624.2	NP_001354553.1:p.(Ser2845Ile)	NC_000016.9:g.88502412G>T	(Likely) benign	1 lab	a322c409c2
X:77258643 ATP7A C>T	X	77258643	77258643	C	T	ATP7A	c.1617C>T	NM_000052.7	NP_000043.4:p.(Pro539=)	NC_000023.10:g.77258643C>T	(Likely) benign	1 lab	a323319a44
9:135798764 TSC1 C>T	9	135798764	135798764	C	T	TSC1	c.479G>A	NM_000368.5	NP_000359.1:p.(Arg160His)	NC_000009.11:g.135798764C>T	(Likely) benign	1 lab	a32b28e036
3:195510146 MUC4 G>C	3	195510146	195510146	G	C	MUC4	c.8305C>G	NM_018406.7	NP_060876.5:p.(Leu2769Val)	NC_000003.11:g.195510146G>C	(Likely) benign	1 lab	a32cd77398
16:89620187 SPG7 G>A	16	89620187	89620187	G	A	SPG7	c.1937-15G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89620187G>A	(Likely) benign	1 lab	a32ef94c42
11:1017755 MUC6 C>T	11	1017755	1017755	C	T	MUC6	c.5046G>A	NM_005961.3	NP_005952.2:p.(Leu1682=)	NC_000011.9:g.1017755C>T	(Likely) benign	1 lab	a334d23c16
16:57012379 CETP T>G	16	57012379	57012379	T	G	CETP	c.1146+212T>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012379T>G	(Likely) benign	1 lab	a336a7e791
5:35103378 PRLR T>Alt too long to show for this DUP	5	35103378	35133938	T	Alt too long to show for this DUP	PRLR	c.-105-15713_-43-13614dup	NM_000949.7	NP_000940.1:p.?	NC_000005.9:g.35103380_35133938dup	VUS	1 lab	a33c905d74
7:121766507 AASS G>A	7	121766507	121766507	G	A	AASS	c.394C>T	NM_005763.4	NP_005754.2:p.(Arg132Cys)	NC_000007.13:g.121766507G>A	VUS	1 lab	a34060b3e0
13:41367385 SLC25A15 AG>A	13	41367385	41367387	AG	A	SLC25A15	c.25del	NM_014252.4	NP_055067.1:p.(Ala9LeufsTer17)	NC_000013.10:g.41367387del	(Likely) pathogenic	1 lab	a347fc70f3
10:70765671 KIFBP G>A	10	70765671	70765671	G	A	KIFBP	c.789G>A	NM_015634.4	NP_056449.1:p.(Lys263=)	NC_000010.10:g.70765671G>A	(Likely) pathogenic	1 lab	a348f42dc3
3:37559040 ITGA9 A>G	3	37559040	37559040	A	G	ITGA9	c.1081A>G	NM_002207.3	NP_002198.2:p.(Asn361Asp)	NC_000003.11:g.37559040A>G	(Likely) benign	1 lab	a34a3783a7
1:202571033 SYT2 G>A	1	202571033	202571033	G	A	SYT2	c.786C>T	NM_001136504.1	NP_001129976.1:p.(Gly262=)	NC_000001.10:g.202571033G>A	VUS	1 lab	a34ab549f9
12:111351974 MYL2 A>AAG	12	111351974	111351975	A	AAG	MYL2	c.274+15_274+16insCT	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351974_111351975insAG	(Likely) benign	1 lab	a35b50c3ac
9:100857077 TRIM14 Ref too long to show for this DEL>C	9	100857077	100870527	Ref too long to show for this DEL	C	TRIM14	c.303+1644_700+71del	NM_014788.4	NP_055603.2:p.?	NC_000009.11:g.100857078_100870527del	VUS	1 lab	a34ad8df70
16:70237576 MISSING G>Alt too long to show for this DUP	16	70237576	70364136	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70237578_70364136dup	VUS	1 lab	a34b9e4963
4:15989852 PROM1 G>C	4	15989852	15989852	G	C	PROM1	c.2050-513C>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15989852G>C	(Likely) benign	1 lab	a34d6743b5
1:103474287 COL11A1 G>T	1	103474287	103474287	G	T	COL11A1	c.1666-215C>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103474287G>T	(Likely) benign	1 lab	a34de1eb98
2:179429915 TTN A>G	2	179429915	179429915	A	G	TTN	c.80944T>C	NM_001267550.2	NP_001254479.2:p.(Phe26982Leu)	NC_000002.11:g.179429915A>G	(Likely) benign	1 lab	a34f81c237
16:71627337 MISSING G>Alt too long to show for this DUP	16	71627337	71736128	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71627339_71736128dup	VUS	1 lab	a351dbf2f5
15:48752356 FBN1 C>T	15	48752356	48752356	C	T	FBN1	c.5296+87G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752356C>T	(Likely) benign	1 lab	a3548919d1
19:49675036 TRPM4 T>G	19	49675036	49675036	T	G	TRPM4	c.1050+10T>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49675036T>G	(Likely) benign	1 lab	a3574387d4
14:92343904 FBLN5 G>A	14	92343904	92343904	G	A	FBLN5	c.944C>T	NM_001384161.1	NP_001371090.1:p.(Thr315Met)	NC_000014.8:g.92343904G>A	VUS	1 lab	a35b7201f5
8:145012376 PLEC G>A	8	145012376	145012376	G	A	PLEC	c.618C>T	NM_201380.4	NP_958782.1:p.(Asp206=)	NC_000008.10:g.145012376G>A	(Likely) benign	1 lab	a35b815f2a
2:1639231 PXDN G>A	2	1639231	1639231	G	A	PXDN	c.4269C>T	NM_012293.3	NP_036425.1:p.(His1423=)	NC_000002.11:g.1639231G>A	(Likely) benign	1 lab	a35c227b73
2:47389470 CALM2 T>A	2	47389470	47389470	T	A	CALM2	c.132A>T	NM_001305626.1	NP_001292555.1:p.(Thr44=)	NC_000002.11:g.47389470T>A	(Likely) benign	1 lab	a35c4423f3
16:17211723 XYLT1 G>T	16	17211723	17211723	G	T	XYLT1	c.2337C>A	NM_022166.4	NP_071449.1:p.(Thr779=)	NC_000016.9:g.17211723G>T	(Likely) benign	1 lab	a35dbfb073
19:41928262 BCKDHA C>T	19	41928262	41928262	C	T	BCKDHA	c.840C>T	NM_000709.4	NP_000700.1:p.(Arg280=)	NC_000019.9:g.41928262C>T	(Likely) benign	1 lab	a35e88cbec
1:17313109 ATP13A2 AG>A	1	17313109	17313112	AG	A	ATP13A2	c.3238del	NM_001141973.3	NP_001135445.1:p.(Leu1080TrpfsTer4)	NC_000001.10:g.17313112del	(Likely) pathogenic	1 lab	a35fadd64b
X:133511706 PHF6 G>T	X	133511706	133511706	G	T	PHF6	c.59G>T	NM_032458.3	NP_115834.1:p.(Cys20Phe)	NC_000023.10:g.133511706G>T	VUS	1 lab	a362aff73f
22:38524296 PLA2G6 G>A	22	38524296	38524296	G	A	PLA2G6	c.1328C>T	NM_003560.4	NP_003551.2:p.(Pro443Leu)	NC_000022.10:g.38524296G>A	(Likely) benign	1 lab	a364dce2c6
10:94393367 KIF11 T>C	10	94393367	94393367	T	C	KIF11	c.1703-13T>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94393367T>C	(Likely) benign	1 lab	a36534e840
12:50502917 GPD1 CAA>C	12	50502917	50502941	CAA	C	GPD1	c.954-266_954-265del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502940_50502941del	(Likely) benign	1 lab	a3665bdb59
2:48018285 MSH6 G>A	2	48018285	48018285	G	A	MSH6	c.457+23G>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48018285G>A	(Likely) benign	1 lab	a36734824a
15:48752494 FBN1 C>A	15	48752494	48752494	C	A	FBN1	c.5245G>T	NM_000138.5	NP_000129.3:p.(Gly1749Ter)	NC_000015.9:g.48752494C>A	(Likely) pathogenic	1 lab	a368eb1602
19:50766626 MYH14 C>T	19	50766626	50766626	C	T	MYH14	c.2643C>T	NM_001145809.2	NP_001139281.1:p.(Cys881=)	NC_000019.9:g.50766626C>T	(Likely) benign	1 lab	a369f02e2a
17:41244309 BRCA1 A>G	17	41244309	41244309	A	G	BRCA1	c.3239T>C	NM_007294.4	NP_009225.1:p.(Leu1080Ser)	NC_000017.10:g.41244309A>G	(Likely) benign	1 lab	a369fc88dd
12:5153405 KCNA5 G>T	12	5153405	5153405	G	T	KCNA5	c.92G>T	NM_002234.4	NP_002225.2:p.(Gly31Val)	NC_000012.11:g.5153405G>T	(Likely) benign	1 lab	a36bd2f955
12:2614121 CACNA1C A>C	12	2614121	2614121	A	C	CACNA1C	c.1217+10A>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2614121A>C	(Likely) benign	1 lab	a36c62bc10
11:117280516 CEP164 A>C	11	117280516	117280516	A	C	CEP164	c.3931A>C	NM_014956.5	NP_055771.4:p.(Thr1311Pro)	NC_000011.9:g.117280516A>C	(Likely) benign	1 lab	a36d5b854a
7:30065960 FKBP14 G>A	7	30065960	30065960	G	A	FKBP14	c.165C>T	NM_017946.4	NP_060416.1:p.(Tyr55=)	NC_000007.13:g.30065960G>A	(Likely) benign	1 lab	a36dbccb45
1:155408658 ASH1L T>C	1	155408658	155408658	T	C	ASH1L	c.5288A>G	NM_018489.3	NP_060959.2:p.(Asp1763Gly)	NC_000001.10:g.155408658T>C	VUS	1 lab	a37036a7f3
7:74175484 MISSING Ref too long to show for this DEL>T	7	74175484	74253352	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.74175485_74253352del	VUS	1 lab	a372ce6112
14:81574914 TSHR G>A	14	81574914	81574914	G	A	TSHR	c.714G>A	NM_001142626.3	NP_001136098.1:p.(Ser238=)	NC_000014.8:g.81574914G>A	(Likely) benign	1 lab	a372d00e39
5:233764 SDHA C>CGT	5	233764	233769	C	CGT	SDHA	c.1064+8_1064+9dup	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.233768_233769dup	(Likely) benign	1 lab	a373d71fbe
2:166652221 MISSING T>Alt too long to show for this DUP	2	166652221	166758582	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.166652223_166758582dup	(Likely) pathogenic	1 lab	a374ba30bf
4:100530072 MTTP A>G	4	100530072	100530072	A	G	MTTP	c.1707A>G	NM_000253.4	NP_000244.2:p.(Gln569=)	NC_000004.11:g.100530072A>G	(Likely) benign	1 lab	a37536c2ce
11:22646970 FANCF G>A	11	22646970	22646970	G	A	FANCF	c.387C>T	NM_022725.4	NP_073562.1:p.(Leu129=)	NC_000011.9:g.22646970G>A	(Likely) benign	1 lab	a379b51226
17:56492661 RNF43 G>C	17	56492661	56492661	G	C	RNF43	c.252+26C>G	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56492661G>C	(Likely) benign	1 lab	a379fb3797
12:125267310 SCARB1 A>C	12	125267310	125267310	A	C	SCARB1	c.1449T>G	NM_001367989.1	NP_001354918.1:p.(Asp483Glu)	NC_000012.11:g.125267310A>C	(Likely) benign	1 lab	a37a61faa0
19:18279572 PIK3R2 G>T	19	18279572	18279572	G	T	PIK3R2	c.1845G>T	NM_005027.4	NP_005018.2:p.(Pro615=)	NC_000019.9:g.18279572G>T	(Likely) benign	1 lab	a37dbe0bb7
1:236900236 ACTN2 CAA>C	1	236900236	236900239	CAA	C	ACTN2	c.784-184_784-183del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900238_236900239del	(Likely) benign	1 lab	a37f23c8cc
16:57017224 CETP G>C	16	57017224	57017224	G	C	CETP	c.1322-14G>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017224G>C	(Likely) benign	1 lab	a37f65c00c
18:6959402 LAMA1 G>A	18	6959402	6959402	G	A	LAMA1	c.7716C>T	NM_005559.4	NP_005550.2:p.(His2572=)	NC_000018.9:g.6959402G>A	(Likely) benign	1 lab	a3814599c9
X:70444071 GJB1 C>G	X	70444071	70444071	C	G	GJB1	c.514C>G	NM_000166.6	NP_000157.1:p.(Pro172Ala)	NC_000023.10:g.70444071C>G	(Likely) pathogenic	1 lab	a3831cda9f
8:19811837 LPL C>T	8	19811837	19811837	C	T	LPL	c.748C>T	NM_000237.3	NP_000228.1:p.(Arg250Cys)	NC_000008.10:g.19811837C>T	VUS	1 lab	a3f0355683
15:48788302 FBN1 C>T	15	48788302	48788302	C	T	FBN1	c.2414G>A	NM_000138.5	NP_000129.3:p.(Cys805Tyr)	NC_000015.9:g.48788302C>T	(Likely) pathogenic	1 lab	a3858e3e78
16:57017234 CETP C>T	16	57017234	57017234	C	T	CETP	c.1322-4C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017234C>T	(Likely) benign	1 lab	a385d2a1ab
7:128481549 FLNC C>T	7	128481549	128481549	C	T	FLNC	c.2049C>T	NM_001458.5	NP_001449.3:p.(Ile683=)	NC_000007.13:g.128481549C>T	(Likely) benign	1 lab	a3867e6a51
1:63069623 ANGPTL3 A>C	1	63069623	63069623	A	C	ANGPTL3	c.932-17A>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63069623A>C	(Likely) benign	1 lab	a387dcf8ce
X:41203341 DDX3X CGA>C	X	41203341	41203348	CGA	C	DDX3X	c.830_831del	NM_001356.5	NP_001347.3:p.(Glu277ValfsTer17)	NC_000023.10:g.41203347_41203348del	(Likely) pathogenic	1 lab	a38eaed852
6:16145417 MYLIP G>A	6	16145417	16145417	G	A	MYLIP	c.1117G>A	NM_013262.4	NP_037394.2:p.(Val373Met)	NC_000006.11:g.16145417G>A	(Likely) benign	1 lab	a38eb2b43d
11:68153845 LRP5 G>A	11	68153845	68153845	G	A	LRP5	c.1077G>A	NM_002335.4	NP_002326.2:p.(Thr359=)	NC_000011.9:g.68153845G>A	(Likely) benign	1 lab	a3998b4faf
1:156144743 SEMA4A C>A	1	156144743	156144743	C	A	SEMA4A	c.1434+12C>A	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156144743C>A	(Likely) benign	1 lab	a39a814025
1:201334411 TNNT2 T>A	1	201334411	201334411	T	A	TNNT2	c.289A>T	NM_001276347.2	NP_001263276.1:p.(Lys97Ter)	NC_000001.10:g.201334411T>A	VUS	1 lab	a39b3fe2a9
10:59956481 IPMK C>G	10	59956481	59956481	C	G	IPMK	c.629-22G>C	NM_152230.5	NP_689416.1:p.?	NC_000010.10:g.59956481C>G	(Likely) benign	1 lab	a39ba9d428
6:56504477 DST T>TA	6	56504477	56504488	T	TA	DST	c.2598+16dup	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56504488dup	(Likely) benign	1 lab	a39fef6838
5:77335091 AP3B1 G>A	5	77335091	77335091	G	A	AP3B1	c.2438C>T	NM_001271769.2	NP_001258698.1:p.(Thr813Ile)	NC_000005.9:g.77335091G>A	(Likely) benign	1 lab	a3a091e187
11:119210167 C1QTNF5 C>G	11	119210167	119210167	C	G	C1QTNF5	c.606G>C	NM_015645.5	NP_056460.1:p.(Glu202Asp)	NC_000011.9:g.119210167C>G	VUS	1 lab	a3a2ea0ee6
9:94808269 SPTLC1 T>C	9	94808269	94808269	T	C	SPTLC1	c.1136+12A>G	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94808269T>C	(Likely) benign	1 lab	a3a7f4a276
9:136419629 ADAMTSL2 G>A	9	136419629	136419629	G	A	ADAMTSL2	c.1090G>A	NM_001145320.2	NP_001138792.1:p.(Val364Ile)	NC_000009.11:g.136419629G>A	(Likely) benign	1 lab	a3af2314e1
10:103531201 FGF8 C>T	10	103531201	103531201	C	T	FGF8	c.444+19G>A	NM_033163.5	NP_149353.1:p.?	NC_000010.10:g.103531201C>T	(Likely) benign	1 lab	a3b14fc79f
15:43870032 MISSING Ref too long to show for this DEL>C	15	43870032	43969740	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.43870034_43969740del	(Likely) pathogenic	1 lab	a3bbec74eb
2:211320041 LANCL1 GA>G	2	211320041	211320053	GA	G	LANCL1	c.200-4del	NM_006055.3	NP_006046.1:p.?	NC_000002.11:g.211320053del	(Likely) benign	1 lab	a3bd47247e
12:21392087 SLCO1B1 C>A	12	21392087	21392087	C	A	SLCO1B1	c.2040C>A	NM_006446.5	NP_006437.3:p.(Val680=)	NC_000012.11:g.21392087C>A	(Likely) benign	1 lab	a3bdb0504a
6:75822922 COL12A1 T>C	6	75822922	75822922	T	C	COL12A1	c.7948A>G	NM_004370.6	NP_004361.3:p.(Lys2650Glu)	NC_000006.11:g.75822922T>C	VUS	1 lab	a3beb0035a
12:133244993 POLE G>A	12	133244993	133244993	G	A	POLE	c.2122C>T	NM_006231.4	NP_006222.2:p.(His708Tyr)	NC_000012.11:g.133244993G>A	VUS	1 lab	a3bf3b2f07
12:122255213 SETD1B G>C	12	122255213	122255213	G	C	SETD1B	c.2977+13G>C	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122255213G>C	(Likely) benign	1 lab	a3c3bad29d
10:89692960 PTEN A>C	10	89692960	89692960	A	C	PTEN	c.444A>C	NM_000314.8	NP_000305.3:p.(Ala148=)	NC_000010.10:g.89692960A>C	(Likely) benign	1 lab	a3c4c9ec09
6:7578915 DSP G>A	6	7578915	7578915	G	A	DSP	c.3084+120G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578915G>A	(Likely) benign	1 lab	a3c6ca0a98
15:58837718 LIPC C>T	15	58837718	58837718	C	T	LIPC	c.575-223C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837718C>T	(Likely) benign	1 lab	a3c7def6e6
17:37821990 TCAP C>T	17	37821990	37821990	C	T	TCAP	c.132C>T	NM_003673.4	NP_003664.1:p.(Asp44=)	NC_000017.10:g.37821990C>T	(Likely) benign	1 lab	a3c92a8d6c
12:2224441 CACNA1C C>T	12	2224441	2224441	C	T	CACNA1C	c.101C>T	NM_199460.4	NP_955630.3:p.(Ala34Val)	NC_000012.11:g.2224441C>T	(Likely) benign	1 lab	a3c9e51e18
5:148366371 SH3TC2 T>C	5	148366371	148366371	T	C	SH3TC2	c.*17903A>G	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148366371T>C	(Likely) benign	1 lab	a3cb5e1686
2:44040464 ABCG5 T>G	2	44040464	44040464	T	G	ABCG5	c.1763-16A>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040464T>G	(Likely) benign	1 lab	a3cef0facc
7:128482713 FLNC C>G	7	128482713	128482713	C	G	FLNC	c.2350C>G	NM_001458.5	NP_001449.3:p.(Pro784Ala)	NC_000007.13:g.128482713C>G	VUS	1 lab	a3d0244f9e
1:116931628 ATP1A1 C>A	1	116931628	116931628	C	A	ATP1A1	c.741C>A	NM_001160233.2	NP_001153705.1:p.(Thr247=)	NC_000001.10:g.116931628C>A	(Likely) benign	1 lab	a3d90b3dde
14:102483334 DYNC1H1 G>A	14	102483334	102483334	G	A	DYNC1H1	c.7846G>A	NM_001376.5	NP_001367.2:p.(Glu2616Lys)	NC_000014.8:g.102483334G>A	VUS	1 lab	a3db0f494e
16:31193847 FUS C>A	16	31193847	31193847	C	A	FUS	c.52C>A	NM_004960.4	NP_004951.1:p.(Pro18Thr)	NC_000016.9:g.31193847C>A	(Likely) benign	1 lab	a3dcf2d4f7
21:36421116 RUNX1 T>C	21	36421116	36421116	T	C	RUNX1	c.58+23A>G	NM_001754.5	NP_001745.2:p.?	NC_000021.8:g.36421116T>C	(Likely) benign	1 lab	a3dd303633
1:161277148 MPZ C>T	1	161277148	161277148	C	T	MPZ	c.134G>A	NM_000530.8	NP_000521.2:p.(Arg45Gln)	NC_000001.10:g.161277148C>T	(Likely) benign	1 lab	a3e1025888
2:110905498 NPHP1 G>A	2	110905498	110905498	G	A	NPHP1	c.1429C>T	NM_207181.4	NP_997064.2:p.(Arg477Cys)	NC_000002.11:g.110905498G>A	VUS	1 lab	a3e1e5ee4b
6:42689821 PRPH2 G>A	6	42689821	42689821	G	A	PRPH2	c.252C>T	NM_000322.5	NP_000313.2:p.(Asp84=)	NC_000006.11:g.42689821G>A	(Likely) benign	1 lab	a3e2cef2c2
2:25467534 DNMT3A G>A	2	25467534	25467534	G	A	DNMT3A	c.1555-13C>T	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25467534G>A	(Likely) benign	1 lab	a3e8026b03
X:70435214 GJB1 G>T	X	70435214	70435214	G	T	GJB1	c.-17+74G>T	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70435214G>T	(Likely) benign	1 lab	a3ed96a3c4
1:218609462 TGFB2 G>C	1	218609462	218609462	G	C	TGFB2	c.989G>C	NM_001135599.4	NP_001129071.1:p.(Arg330Pro)	NC_000001.10:g.218609462G>C	(Likely) pathogenic	1 lab	a3eea6432d
2:167142984 SCN9A G>A	2	167142984	167142984	G	A	SCN9A	c.1464C>T	NM_002977.3	NP_002968.1:p.(Leu488=)	NC_000002.11:g.167142984G>A	(Likely) benign	1 lab	a3f03755b2
12:21329691 SLCO1B1 T>A	12	21329691	21329691	T	A	SLCO1B1	c.360-19T>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329691T>A	(Likely) benign	1 lab	a3f086d59e
22:26937087 TPST2 C>A	22	26937087	26937087	C	A	TPST2	c.510G>T	NM_001008566.3	NP_001008566.1:p.(Ser170=)	NC_000022.10:g.26937087C>A	(Likely) benign	1 lab	a3f0ee59ff
19:36221466 KMT2B CTCTG>C	19	36221466	36221474	CTCTG	C	KMT2B	c.5230_5233del	NM_014727.3	NP_055542.1:p.(Ser1744IlefsTer150)	NC_000019.9:g.36221471_36221474del	(Likely) pathogenic	1 lab	a3f1518e27
7:55227866 EGFR A>G	7	55227866	55227866	A	G	EGFR	c.1333A>G	NM_005228.5	NP_005219.2:p.(Ile445Val)	NC_000007.13:g.55227866A>G	VUS	1 lab	a3f2d50161
2:21229184 APOB G>A	2	21229184	21229184	G	A	APOB	c.10556C>T	NM_000384.3	NP_000375.3:p.(Thr3519Ile)	NC_000002.11:g.21229184G>A	VUS	1 lab	a3f35b06f2
2:179600229 TTN G>A	2	179600229	179600229	G	A	TTN	c.14935+9C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179600229G>A	(Likely) benign	1 lab	a3f5c8001c
X:32509444 DMD T>A	X	32509444	32509444	T	A	DMD	c.2572A>T	NM_004006.3	NP_003997.2:p.(Thr858Ser)	NC_000023.10:g.32509444T>A	VUS	1 lab	a3f6ea5499
6:32017331 TNXB G>A	6	32017331	32017331	G	A	TNXB	c.9467C>T	NM_019105.8	NP_061978.6:p.(Thr3156Ile)	NC_000006.11:g.32017331G>A	(Likely) benign	1 lab	a3f8b1abc7
1:216420134 USH2A A>G	1	216420134	216420134	A	G	USH2A	c.2602T>C	NM_206933.4	NP_996816.3:p.(Cys868Arg)	NC_000001.10:g.216420134A>G	VUS	1 lab	a3f8b9e7ce
2:234515663 UGT1A Ref too long to show for this DEL>G	2	234515663	234560669	Ref too long to show for this DEL	G	UGT1A				NC_000002.11:g.234515665_234560669del	VUS	1 lab	a3fcb55b85
7:151970881 KMT2C A>G	7	151970881	151970881	A	G	KMT2C	c.921T>C	NM_170606.3	NP_733751.2:p.(His307=)	NC_000007.13:g.151970881A>G	(Likely) benign	1 lab	a400ea050c
2:196922770 DNAH7 Ref too long to show for this DEL>T	2	196922770	196933436	Ref too long to show for this DEL	T	DNAH7	c.-1_78+7del	NM_018897.3	NP_061720.2:p.?	NC_000002.11:g.196922771_196933436del	(Likely) pathogenic	1 lab	a401f208f5
1:25893406 LDLRAP1 G>T	1	25893406	25893406	G	T	LDLRAP1	c.850G>T	NM_015627.3	NP_056442.2:p.(Ala284Ser)	NC_000001.10:g.25893406G>T	(Likely) benign	1 lab	a402f67333
2:179433786 TTN-AS1 A>G	2	179433786	179433786	A	G	TTN-AS1	n.2044-13513A>G	NR_038272.1		NC_000002.11:g.179433786A>G	(Likely) benign	1 lab	a40343f19f
2:136362553 R3HDM1 T>Alt too long to show for this DUP	2	136362553	136393658	T	Alt too long to show for this DUP	R3HDM1	c.139_808dup	NM_001378107.1	NP_001365036.1:p.(Met270ArgfsTer5)	NC_000002.11:g.136362554_136393658dup	VUS	1 lab	a406b6169e
11:1019369 MUC6 G>A	11	1019369	1019369	G	A	MUC6	c.3936C>T	NM_005961.3	NP_005952.2:p.(Thr1312=)	NC_000011.9:g.1019369G>A	(Likely) benign	1 lab	a4085f85b5
19:7606340 PNPLA6 C>A	19	7606340	7606340	C	A	PNPLA6	c.1032+20C>A	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7606340C>A	(Likely) benign	1 lab	a408e2a1a1
1:237889612 RYR2 A>T	1	237889612	237889612	A	T	RYR2	c.10725+4A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237889612A>T	VUS	1 lab	a4092b679f
2:179590631 TTN T>G	2	179590631	179590631	T	G	TTN	c.20418A>C	NM_001267550.2	NP_001254479.2:p.(Lys6806Asn)	NC_000002.11:g.179590631T>G	VUS	1 lab	a40b35310b
19:1398674 GAMT C>G	19	1398674	1398674	C	G	GAMT	c.*1G>C	NM_138924.3	NP_620279.1:p.?	NC_000019.9:g.1398674C>G	(Likely) benign	1 lab	a40b3e2355
1:2160661 SKI C>T	1	2160661	2160661	C	T	SKI	c.456C>T	NM_003036.4	NP_003027.1:p.(Arg152=)	NC_000001.10:g.2160661C>T	(Likely) benign	1 lab	a40d22fe65
4:126371444 FAT4 A>C	4	126371444	126371444	A	C	FAT4	c.9273A>C	NM_024582.6	NP_078858.4:p.(Gln3091His)	NC_000004.11:g.126371444A>C	VUS	1 lab	a41459d42e
5:108523178 MISSING Ref too long to show for this DEL>A	5	108523178	108653826	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.108523179_108653826del	VUS	1 lab	a414c4e084
3:123339032 MYLK GGCTGGAGAA>G	3	123339032	123339041	GGCTGGAGAA	G	MYLK	c.5368+13_5368+21del	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123339033_123339041del	(Likely) benign	1 lab	a414f35183
2:238451312 MLPH GGGCAGTGGTGAGTGGAGACAGTGCTGAGTGGGGGGGCAGTGGTGAGTGGC>G	2	238451312	238451364	GGGCAGTGGTGAGTGGAGACAGTGCTGAGTGGGGGGGCAGTGGTGAGTGGC	G	MLPH	c.1539+13_1539+62del	NM_024101.7	NP_077006.1:p.?	NC_000002.11:g.238451315_238451364del	(Likely) benign	1 lab	a4159a66a4
7:92734051 SAMD9 C>T	7	92734051	92734051	C	T	SAMD9	c.1360G>A	NM_017654.4	NP_060124.2:p.(Ala454Thr)	NC_000007.13:g.92734051C>T	(Likely) benign	1 lab	a416d4c4d6
15:72040835 THSD4 G>A	15	72040835	72040835	G	A	THSD4	c.2317G>A	NM_024817.2	NP_079093.2:p.(Asp773Asn)	NC_000015.9:g.72040835G>A	(Likely) benign	1 lab	a41d656865
6:79692842 PHIP G>C	6	79692842	79692842	G	C	PHIP	c.2538-8C>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79692842G>C	(Likely) benign	1 lab	a41e5a91bc
5:179260655 SQSTM1 G>A	5	179260655	179260655	G	A	SQSTM1	c.1038G>A	NM_003900.5	NP_003891.1:p.(Val346=)	NC_000005.9:g.179260655G>A	(Likely) benign	1 lab	a421114dfb
6:41565669 FOXP4 C>T	6	41565669	41565669	C	T	FOXP4	c.1876C>T	NM_001012426.2	NP_001012426.1:p.(Leu626Phe)	NC_000006.11:g.41565669C>T	VUS	1 lab	a422108302
2:73784493 ALMS1 G>A	2	73784493	73784493	G	A	ALMS1	c.10216+12G>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73784493G>A	(Likely) benign	1 lab	a425642138
3:64132620 PRICKLE2 G>A	3	64132620	64132620	G	A	PRICKLE2	c.1546C>T	NM_198859.4	NP_942559.1:p.(Gln516Ter)	NC_000003.11:g.64132620G>A	VUS	1 lab	a4286abae0
X:32509580 DMD C>T	X	32509580	32509580	C	T	DMD	c.2067G>A	NM_004010.3	NP_004001.1:p.(Trp689Ter)	NC_000023.10:g.32509580C>T	(Likely) pathogenic	1 lab	a42aa4070b
2:44100077 ABCG8 G>A	2	44100077	44100077	G	A	ABCG8	c.1211+632G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100077G>A	(Likely) benign	1 lab	a42dcbdf47
18:45397091 SMAD2 C>T	18	45397091	45397091	C	T	SMAD2	c.237-156G>A	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45397091C>T	(Likely) benign	1 lab	a42fc8f58f
2:179606559 TTN A>G	2	179606559	179606559	A	G	TTN	c.11401T>C	NM_001267550.2	NP_001254479.2:p.(Leu3801=)	NC_000002.11:g.179606559A>G	(Likely) benign	1 lab	a4307f5eea
9:107553478 ABCA1 A>T	9	107553478	107553478	A	T	ABCA1	c.5821-169T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107553478A>T	(Likely) benign	1 lab	a430fda8b8
17:33434151 RAD51D G>A	17	33434151	33434151	G	A	RAD51D	c.346-10C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33434151G>A	(Likely) benign	1 lab	a43672e6dd
2:179429736 TTN C>T	2	179429736	179429736	C	T	TTN	c.81123G>A	NM_001267550.2	NP_001254479.2:p.(Thr27041=)	NC_000002.11:g.179429736C>T	(Likely) benign	1 lab	a436773ed2
2:21232913 APOB A>G	2	21232913	21232913	A	G	APOB	c.6827T>C	NM_000384.3	NP_000375.3:p.(Ile2276Thr)	NC_000002.11:g.21232913A>G	VUS	1 lab	a43699daa0
8:1842729 ARHGEF10 C>T	8	1842729	1842729	C	T	ARHGEF10	c.1506C>T	NM_001308153.2	NP_001295082.1:p.(Phe502=)	NC_000008.10:g.1842729C>T	(Likely) benign	1 lab	a438ce6ea4
9:87367007 NTRK2 AG>A	9	87367007	87367010	AG	A	NTRK2	c.1396+10del	NM_001369532.1	NP_001356461.1:p.?	NC_000009.11:g.87367010del	(Likely) benign	1 lab	a439223fa9
17:10541402 MYH3 G>C	17	10541402	10541402	G	C	MYH3	c.3687C>G	NM_002470.4	NP_002461.2:p.(Ile1229Met)	NC_000017.10:g.10541402G>C	VUS	1 lab	a43979125b
4:74305226 MISSING Ref too long to show for this DEL>T	4	74305226	74355444	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.74305228_74355444del	VUS	1 lab	a43b64de35
19:11624857 ECSIT C>T	19	11624857	11624857	C	T	ECSIT	c.276G>A	NM_016581.5	NP_057665.2:p.(Thr92=)	NC_000019.9:g.11624857C>T	(Likely) benign	1 lab	a43b8383cd
2:191851647 STAT1 G>A	2	191851647	191851647	G	A	STAT1	c.1154C>T	NM_007315.4	NP_009330.1:p.(Thr385Met)	NC_000002.11:g.191851647G>A	(Likely) pathogenic	1 lab	a43cf68312
16:2136384 TSC2 C>T	16	2136384	2136384	C	T	TSC2	c.4849+4C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2136384C>T	(Likely) benign	1 lab	a440b68f21
18:47093796 LIPG C>G	18	47093796	47093796	C	G	LIPG	c.280-16C>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47093796C>G	(Likely) benign	1 lab	a440c50653
1:25889191 LDLRAP1 G>T	1	25889191	25889191	G	T	LDLRAP1	c.516G>T	NM_015627.3	NP_056442.2:p.(Trp172Cys)	NC_000001.10:g.25889191G>T	(Likely) pathogenic	1 lab	a441978321
2:220494940 SLC4A3 C>T	2	220494940	220494940	C	T	SLC4A3	c.758C>T	NM_001326559.2	NP_001313488.2:p.(Ser253Leu)	NC_000002.11:g.220494940C>T	(Likely) benign	1 lab	a444e03e66
11:9868562 SBF2 G>A	11	9868562	9868562	G	A	SBF2	c.2875C>T	NM_030962.4	NP_112224.1:p.(Gln959Ter)	NC_000011.9:g.9868562G>A	(Likely) pathogenic	1 lab	a449c27ee6
2:21255268 APOB C>T	2	21255268	21255268	C	T	APOB	c.1310G>A	NM_000384.3	NP_000375.3:p.(Arg437His)	NC_000002.11:g.21255268C>T	(Likely) benign	1 lab	a44dff3e27
2:105990155 FHL2 G>A	2	105990155	105990155	G	A	FHL2	c.192C>T	NM_201555.2	NP_963849.1:p.(Ala64=)	NC_000002.11:g.105990155G>A	(Likely) benign	1 lab	a4522aed2a
11:76900392 MYO7A C>T	11	76900392	76900392	C	T	MYO7A	c.3507C>T	NM_000260.4	NP_000251.3:p.(Asp1169=)	NC_000011.9:g.76900392C>T	(Likely) benign	1 lab	a4574fe726
22:38379455 SOX10 C>A	22	38379455	38379455	C	A	SOX10	c.337G>T	NM_006941.4	NP_008872.1:p.(Val113Leu)	NC_000022.10:g.38379455C>A	(Likely) pathogenic	1 lab	a45937c90b
X:100492761 DRP2 T>C	X	100492761	100492761	T	C	DRP2	c.435T>C	NM_001939.3	NP_001930.2:p.(His145=)	NC_000023.10:g.100492761T>C	(Likely) benign	1 lab	a45c151006
14:37767677 MIPOL1 Ref too long to show for this DEL>G	14	37767677	37860528	Ref too long to show for this DEL	G	MIPOL1	c.624-9583_936+21699del	NM_001388067.1	NP_001374996.1:p.?	NC_000014.8:g.37767678_37860528del	VUS	1 lab	a45cebe38c
2:179441053 TTN C>T	2	179441053	179441053	C	T	TTN	c.69806G>A	NM_001267550.2	NP_001254479.2:p.(Gly23269Glu)	NC_000002.11:g.179441053C>T	VUS	1 lab	a45d9b80cb
5:177421275 PROP1 C>T	5	177421275	177421275	C	T	PROP1	c.174G>A	NM_006261.5	NP_006252.4:p.(Pro58=)	NC_000005.9:g.177421275C>T	(Likely) benign	1 lab	a45e3f41cf
2:179399286 TTN G>A	2	179399286	179399286	G	A	TTN	c.102056C>T	NM_001267550.2	NP_001254479.2:p.(Thr34019Ile)	NC_000002.11:g.179399286G>A	VUS	1 lab	a4612d9270
3:63898497 ATXN7 A>G	3	63898497	63898497	A	G	ATXN7	c.223A>G	NM_000333.4	NP_000324.1:p.(Met75Val)	NC_000003.11:g.63898497A>G	(Likely) benign	1 lab	a4655a364c
6:51404948 MISSING Ref too long to show for this DEL>G	6	51404948	51481672	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.51404950_51481672del	VUS	1 lab	a4675a33a4
1:236889292 ACTN2 A>G	1	236889292	236889292	A	G	ACTN2	c.508A>G	NM_001103.4	NP_001094.1:p.(Asn170Asp)	NC_000001.10:g.236889292A>G	VUS	1 lab	a4682affbe
16:88787704 PIEZO1 G>C	16	88787704	88787704	G	C	PIEZO1	c.5538C>G	NM_001142864.4	NP_001136336.2:p.(Ala1846=)	NC_000016.9:g.88787704G>C	(Likely) benign	1 lab	a4682c74bb
11:6643976 DCHS1 C>T	11	6643976	6643976	C	T	DCHS1	c.8931G>A	NM_003737.4	NP_003728.1:p.(Gln2977=)	NC_000011.9:g.6643976C>T	(Likely) benign	1 lab	a46f0b5760
2:44079518 ABCG8 G>A	2	44079518	44079518	G	A	ABCG8	c.587G>A	NM_022437.3	NP_071882.1:p.(Arg196Gln)	NC_000002.11:g.44079518G>A	(Likely) benign	1 lab	a4716b8017
4:114278846 ANK2 A>C	4	114278846	114278846	A	C	ANK2	c.9072A>C	NM_001148.6	NP_001139.3:p.(Thr3024=)	NC_000004.11:g.114278846A>C	(Likely) benign	1 lab	a472d55e75
12:124330311 DNAH10 C>T	12	124330311	124330311	C	T	DNAH10	c.5171C>T	NM_207437.3	NP_997320.2:p.(Thr1724Met)	NC_000012.11:g.124330311C>T	(Likely) benign	1 lab	a472f931e8
9:111651621 ELP1 C>G	9	111651621	111651621	C	G	ELP1	c.3213G>C	NM_003640.5	NP_003631.2:p.(Glu1071Asp)	NC_000009.11:g.111651621C>G	VUS	1 lab	a47606e9e6
2:220285628 DES C>T	2	220285628	220285628	C	T	DES	c.976C>T	NM_001927.4	NP_001918.3:p.(His326Tyr)	NC_000002.11:g.220285628C>T	VUS	1 lab	a4762b7237
9:107573220 ABCA1 T>C	9	107573220	107573220	T	C	ABCA1	c.4051-15A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107573220T>C	(Likely) benign	1 lab	a477a18d68
12:50499957 GPD1 G>A	12	50499957	50499957	G	A	GPD1	c.361-114G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50499957G>A	(Likely) benign	1 lab	a4782434d6
6:70942353 COL9A1 C>A	6	70942353	70942353	C	A	COL9A1	c.2436G>T	NM_001851.6	NP_001842.3:p.(Gln812His)	NC_000006.11:g.70942353C>A	(Likely) benign	1 lab	a47afa75f2
1:113254266 MISSING C>Alt too long to show for this DUP	1	113254266	113513292	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.113254268_113513292dup	VUS	1 lab	a47affeabc
5:37120355 CPLANE1 C>T	5	37120355	37120355	C	T	CPLANE1	c.9111G>A	NM_023073.4	NP_075561.3:p.(Lys3037=)	NC_000005.9:g.37120355C>T	(Likely) benign	1 lab	a47c87e6e6
2:73835584 ALMS1 A>C	2	73835584	73835584	A	C	ALMS1	c.12366-18A>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73835584A>C	(Likely) benign	1 lab	a47d8bb980
12:122261465 SETD1B C>T	12	122261465	122261465	C	T	SETD1B	c.4980C>T	NM_001353345.2	NP_001340274.1:p.(Pro1660=)	NC_000012.11:g.122261465C>T	(Likely) benign	1 lab	a47deb1ead
3:195615313 TNK2 G>A	3	195615313	195615313	G	A	TNK2	c.147C>T	NM_005781.5	NP_005772.3:p.(Ile49=)	NC_000003.11:g.195615313G>A	(Likely) benign	1 lab	a47e7d2a3c
11:47433460 SLC39A13 G>A	11	47433460	47433460	G	A	SLC39A13	c.302-17G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47433460G>A	(Likely) benign	1 lab	a47e879eba
3:100570787 ABI3BP TA>T	3	100570787	100570801	TA	T	ABI3BP	c.1139-4del	NM_015429.4	NP_056244.3:p.?	NC_000003.11:g.100570801del	(Likely) benign	1 lab	a47f338291
11:89441231 MISSING Ref too long to show for this DEL>T	11	89441231	89556980	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.89441232_89556980del	VUS	1 lab	a47f8b29f3
6:56496089 DST G>A	6	56496089	56496089	G	A	DST	c.3963C>T	NM_001144769.5	NP_001138241.1:p.(Val1321=)	NC_000006.11:g.56496089G>A	(Likely) benign	1 lab	a4808bc865
9:126125447 CRB2 A>AT	9	126125447	126125449	A	AT	CRB2	c.400dup	NM_173689.7	NP_775960.4:p.(Cys134LeufsTer148)	NC_000009.11:g.126125449dup	(Likely) pathogenic	1 lab	a4818228a0
16:14892876 MISSING Ref too long to show for this DEL>A	16	14892876	16544422	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.14892883_16544422del	(Likely) pathogenic	1 lab	a48249ef9f
9:137710457 COL5A1 G>A	9	137710457	137710457	G	A	COL5A1	c.4231-45G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710457G>A	(Likely) benign	1 lab	a482d90459
16:49671692 ZNF423 G>A	16	49671692	49671692	G	A	ZNF423	c.1191C>T	NM_001271620.2	NP_001258549.1:p.(Asn397=)	NC_000016.9:g.49671692G>A	(Likely) benign	1 lab	a483d1fb6c
11:68153879 LRP5 G>A	11	68153879	68153879	G	A	LRP5	c.1111G>A	NM_002335.4	NP_002326.2:p.(Asp371Asn)	NC_000011.9:g.68153879G>A	(Likely) benign	1 lab	a48501d64a
9:103059313 INVS G>A	9	103059313	103059313	G	A	INVS	c.2901G>A	NM_014425.5	NP_055240.2:p.(Lys967=)	NC_000009.11:g.103059313G>A	(Likely) benign	1 lab	a48873d071
11:125889526 CDON C>T	11	125889526	125889526	C	T	CDON	c.484G>A	NM_001243597.2	NP_001230526.1:p.(Glu162Lys)	NC_000011.9:g.125889526C>T	(Likely) benign	1 lab	a48aef023b
2:179479663 TTN C>G	2	179479663	179479663	C	G	TTN	c.48671G>C	NM_001267550.2	NP_001254479.2:p.(Trp16224Ser)	NC_000002.11:g.179479663C>G	VUS	1 lab	a4904ecfb5
8:1600973 DLGAP2 Ref too long to show for this DEL>C	8	1600973	1605365	Ref too long to show for this DEL	C	DLGAP2	c.1811-15521_1811-11130del	NM_001346810.2	NP_001333739.1:p.?	NC_000008.10:g.1600974_1605365del	VUS	1 lab	a4912eac40
9:107564320 ABCA1 C>T	9	107564320	107564320	C	T	ABCA1	c.4698+15G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564320C>T	(Likely) benign	1 lab	a49602fa74
6:75843596 COL12A1 G>C	6	75843596	75843596	G	C	COL12A1	c.5642C>G	NM_004370.6	NP_004361.3:p.(Ala1881Gly)	NC_000006.11:g.75843596G>C	VUS	1 lab	a4984eb21c
9:113449410 MUSK C>T	9	113449410	113449410	C	T	MUSK	c.220C>T	NM_005592.4	NP_005583.1:p.(Arg74Trp)	NC_000009.11:g.113449410C>T	(Likely) pathogenic	1 lab	a49b3c3947
12:49443482 KMT2D G>A	12	49443482	49443482	G	A	KMT2D	c.3889C>T	NM_003482.4	NP_003473.3:p.(Arg1297Cys)	NC_000012.11:g.49443482G>A	VUS	1 lab	a49d0150e7
16:15832609 MYH11 C>T	16	15832609	15832609	C	T	MYH11	c.2998-64G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15832609C>T	(Likely) benign	1 lab	a49dee2ce1
12:547534 MISSING Ref too long to show for this DEL>C	12	547534	1326309	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.547535_1326309del	(Likely) pathogenic	1 lab	a49ea93055
17:7906847 GUCY2D C>T	17	7906847	7906847	C	T	GUCY2D	c.482C>T	NM_000180.4	NP_000171.1:p.(Thr161Met)	NC_000017.10:g.7906847C>T	VUS	1 lab	a4a4af07cc
5:131039895 FNIP1 T>G	5	131039895	131039895	T	G	FNIP1	c.979A>C	NM_133372.3	NP_588613.3:p.(Lys327Gln)	NC_000005.9:g.131039895T>G	(Likely) benign	1 lab	a4bc548992
15:23891869 MAGEL2 G>A	15	23891869	23891869	G	A	MAGEL2	c.1021C>T	NM_019066.5	NP_061939.3:p.(Gln341Ter)	NC_000015.9:g.23891869G>A	(Likely) pathogenic	1 lab	a4accda469
10:112542952 RBM20 A>G	10	112542952	112542952	A	G	RBM20	c.1276-172A>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112542952A>G	(Likely) benign	1 lab	a4adf156aa
2:236501417 AGAP1 Ref too long to show for this DEL>G	2	236501417	236635998	Ref too long to show for this DEL	G	AGAP1	c.163+97925_310+9710del	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236501418_236635998del	VUS	1 lab	a4b17e5639
4:100518229 MTTP G>A	4	100518229	100518229	G	A	MTTP	c.915G>A	NM_000253.4	NP_000244.2:p.(Ser305=)	NC_000004.11:g.100518229G>A	(Likely) benign	1 lab	a4b32534a0
2:179451250 TTN C>T	2	179451250	179451250	C	T	TTN	c.56674G>A	NM_133378.4	NP_596869.4:p.(Glu18892Lys)	NC_000002.11:g.179451250C>T	VUS	1 lab	a4b387951d
X:100880913 MISSING Ref too long to show for this DEL>A	X	100880913	100898599	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.100880915_100898599del	VUS	1 lab	a4b4708937
M:12706 MISSING T>C	M	12706		T	C	MISSING				NC_012920.1:m.12706T>C	(Likely) pathogenic	1 lab	a4b510263c
2:179443558 TTN C>T	2	179443558	179443558	C	T	TTN	c.68199G>A	NM_001267550.2	NP_001254479.2:p.(Glu22733=)	NC_000002.11:g.179443558C>T	(Likely) benign	1 lab	a4b891f671
11:47370459 MYBPC3 T>TTATATATATA	11	47370459	47370478	T	TTATATATATA	MYBPC3	c.655-377_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370469_47370478dup	(Likely) benign	1 lab	a4ba9b1905
15:58853049 LIPC G>GTC	15	58853049	58853060	G	GTC	LIPC	c.1052-4_1052-3dup	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853059_58853060dup	(Likely) benign	1 lab	a4bc67e151
18:47110081 LIPG G>A	18	47110081	47110081	G	A	LIPG	c.1313G>A	NM_006033.4	NP_006024.1:p.(Arg438His)	NC_000018.9:g.47110081G>A	VUS	1 lab	a4bfb81f81
4:15552439 CC2D2A G>A	4	15552439	15552439	G	A	CC2D2A	c.2182-8G>A	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15552439G>A	(Likely) pathogenic	1 lab	a4c3a11be4
6:32726774 HLA-DQB2 C>T	6	32726774	32726774	C	T	HLA-DQB2	c.499G>A	NM_001300790.2	NP_001287719.1:p.(Ala167Thr)	NC_000006.11:g.32726774C>T	(Likely) benign	1 lab	a4c5a61e57
14:51089912 ATL1 C>A	14	51089912	51089912	C	A	ATL1	c.1065C>A	NM_001127713.1	NP_001121185.1:p.(Asn355Lys)	NC_000014.8:g.51089912C>A	(Likely) pathogenic	1 lab	a4c930faaa
17:43515256 PLEKHM1 G>A	17	43515256	43515256	G	A	PLEKHM1	c.3139C>T	NM_014798.3	NP_055613.1:p.(Arg1047Cys)	NC_000017.10:g.43515256G>A	VUS	1 lab	a4cec3a3db
17:10546278 MYH3 G>A	17	10546278	10546278	G	A	MYH3	c.1446C>T	NM_002470.4	NP_002461.2:p.(Thr482=)	NC_000017.10:g.10546278G>A	(Likely) benign	1 lab	a4cf050718
2:21260845 APOB C>G	2	21260845	21260845	C	G	APOB	c.522G>C	NM_000384.3	NP_000375.3:p.(Lys174Asn)	NC_000002.11:g.21260845C>G	VUS	1 lab	a4d0f601e9
15:43687801 TUBGCP4 T>C	15	43687801	43687801	T	C	TUBGCP4	c.1086T>C	NM_001286414.3	NP_001273343.1:p.(Leu362=)	NC_000015.9:g.43687801T>C	(Likely) benign	1 lab	a4d2d24672
19:11231083 LDLR C>T	19	11231083	11231083	C	T	LDLR	c.2025C>T	NM_000527.5	NP_000518.1:p.(Gly675=)	NC_000019.9:g.11231083C>T	(Likely) benign	1 lab	a4d447d73b
19:40901639 PRX C>T	19	40901639	40901639	C	T	PRX	c.2620G>A	NM_181882.3	NP_870998.2:p.(Ala874Thr)	NC_000019.9:g.40901639C>T	VUS	1 lab	a4d4507ee9
1:214625321 PTPN14 G>A	1	214625321	214625321	G	A	PTPN14	c.175-4C>T	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214625321G>A	(Likely) benign	1 lab	a4d7fb7380
9:107548493 ABCA1 G>T	9	107548493	107548493	G	T	ABCA1	c.6401+86C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548493G>T	(Likely) benign	1 lab	a4d87cbf63
15:48748885 FBN1 A>T	15	48748885	48748885	A	T	FBN1	c.5371T>A	NM_000138.5	NP_000129.3:p.(Cys1791Ser)	NC_000015.9:g.48748885A>T	(Likely) pathogenic	1 lab	a4d9196c45
6:42937685 PEX6 C>T	6	42937685	42937685	C	T	PEX6	c.1171G>A	NM_000287.4	NP_000278.3:p.(Glu391Lys)	NC_000006.11:g.42937685C>T	VUS	1 lab	a5c35551ff
2:44104758 ABCG8 G>A	2	44104758	44104758	G	A	ABCG8	c.1815G>A	NM_022437.3	NP_071882.1:p.(Lys605=)	NC_000002.11:g.44104758G>A	(Likely) benign	1 lab	a4db34dce8
17:465993 VPS53 G>GA	17	465993	466004	G	GA	VPS53	c.1314-9dup	NM_001128159.3	NP_001121631.1:p.?	NC_000017.10:g.466004dup	(Likely) benign	1 lab	a4dc298a23
6:44274459 AARS2 Ref too long to show for this DEL>C	6	44274459	44277906	Ref too long to show for this DEL	C	AARS2	c.894+130_1150-191del	NM_020745.4	NP_065796.2:p.?	NC_000006.11:g.44274460_44277906del	VUS	1 lab	a4dd1b40bb
10:89623900 PTEN TGCG>T	10	89623900	89623903	TGCG	T	PTEN	c.-326_-324del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623901_89623903del	(Likely) benign	1 lab	a4e32fc86e
16:28877495 SH2B1 G>A	16	28877495	28877495	G	A	SH2B1	c.80G>A	NM_015503.3	NP_056318.2:p.(Arg27Gln)	NC_000016.9:g.28877495G>A	(Likely) benign	1 lab	a4e5371d3b
1:12072518 MFN2 G>C	1	12072518	12072518	G	C	MFN2	c.*896G>C	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12072518G>C	(Likely) benign	1 lab	a711ac57b8
9:133942496 LAMC3 C>T	9	133942496	133942496	C	T	LAMC3	c.2497C>T	NM_006059.4	NP_006050.3:p.(Arg833Cys)	NC_000009.11:g.133942496C>T	VUS	1 lab	a4e7444d99
10:90987974 LIPA A>T	10	90987974	90987974	A	T	LIPA	c.411T>A	NM_001127605.3	NP_001121077.1:p.(Asp137Glu)	NC_000010.10:g.90987974A>T	VUS	1 lab	a4f267e580
19:1465659 APC2 C>T	19	1465659	1465659	C	T	APC2	c.2359C>T	NM_005883.3	NP_005874.1:p.(Leu787=)	NC_000019.9:g.1465659C>T	(Likely) benign	1 lab	a4f4797cca
10:90983629 LIPA C>T	10	90983629	90983629	C	T	LIPA	c.676-42G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90983629C>T	(Likely) benign	1 lab	a4f4c41139
11:1651228 KRTAP5-5 C>CTGTGG	11	1651228	1651229	C	CTGTGG	KRTAP5-5	c.158_159insTGTGG	NM_001001480.2	NP_001001480.2:p.(Gly54ValfsTer199)	NC_000011.9:g.1651228_1651229insTGTGG	(Likely) benign	1 lab	a4f92b2b7e
6:137193321 PEX7 T>C	6	137193321	137193321	T	C	PEX7	c.748-15T>C	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193321T>C	(Likely) benign	1 lab	a4fc61634b
12:106820975 POLR3B C>T	12	106820975	106820975	C	T	POLR3B	c.1102C>T	NM_018082.6	NP_060552.4:p.(Leu368Phe)	NC_000012.11:g.106820975C>T	(Likely) benign	1 lab	a4fc78668f
22:38370084 SOX10 G>A	22	38370084	38370084	G	A	SOX10	c.819C>T	NM_006941.4	NP_008872.1:p.(Phe273=)	NC_000022.10:g.38370084G>A	(Likely) benign	1 lab	a4fecc9326
17:58227471 CA4 G>C	17	58227471	58227471	G	C	CA4	c.58+18G>C	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58227471G>C	(Likely) benign	1 lab	a5011ddcd2
3:132432050 NPHP3 T>C	3	132432050	132432050	T	C	NPHP3	c.1038A>G	NM_153240.5	NP_694972.3:p.(Glu346=)	NC_000003.11:g.132432050T>C	(Likely) benign	1 lab	a502940e71
16:46766414 MYLK3 C>T	16	46766414	46766414	C	T	MYLK3	c.1168G>A	NM_182493.3	NP_872299.2:p.(Gly390Arg)	NC_000016.9:g.46766414C>T	VUS	1 lab	a505f087dc
16:1004049 LMF1 C>T	16	1004049	1004049	C	T	LMF1	c.503+308G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004049C>T	(Likely) benign	1 lab	a5077aef60
2:29445425 ALK G>A	2	29445425	29445425	G	A	ALK	c.3408C>T	NM_004304.5	NP_004295.2:p.(Ser1136=)	NC_000002.11:g.29445425G>A	(Likely) benign	1 lab	a507d68c0b
12:6954864 GNB3 G>A	12	6954864	6954864	G	A	GNB3	c.814G>A	NM_002075.4	NP_002066.1:p.(Gly272Ser)	NC_000012.11:g.6954864G>A	(Likely) benign	1 lab	a508315bcc
3:100467117 TFG G>A	3	100467117	100467117	G	A	TFG	c.945G>A	NM_006070.6	NP_006061.2:p.(Pro315=)	NC_000003.11:g.100467117G>A	(Likely) benign	1 lab	a508b3fb8f
2:27603323 ZNF513 G>A	2	27603323	27603323	G	A	ZNF513	c.55+16C>T	NM_144631.6	NP_653232.3:p.?	NC_000002.11:g.27603323G>A	(Likely) benign	1 lab	a50a303db6
16:57003367 CETP C>T	16	57003367	57003367	C	T	CETP	c.303C>T	NM_000078.3	NP_000069.2:p.(Val101=)	NC_000016.9:g.57003367C>T	(Likely) benign	1 lab	a51155d2d8
10:90974676 LIPA G>A	10	90974676	90974676	G	A	LIPA	c.1109C>T	NM_000235.4	NP_000226.2:p.(Pro370Leu)	NC_000010.10:g.90974676G>A	VUS	1 lab	a51761cc35
13:32907382 BRCA2 GTTTA>G	13	32907382	32907391	GTTTA	G	BRCA2	c.1773_1776del	NM_000059.4	NP_000050.3:p.(Ile591MetfsTer22)	NC_000013.10:g.32907388_32907391del	(Likely) pathogenic	1 lab	a517aabb75
15:58830649 LIPC C>T	15	58830649	58830649	C	T	LIPC	c.206C>T	NM_000236.3	NP_000227.2:p.(Pro69Leu)	NC_000015.9:g.58830649C>T	VUS	1 lab	a78d767e9b
16:70942176 HYDIN G>A	16	70942176	70942176	G	A	HYDIN	c.8375C>T	NM_001270974.2	NP_001257903.1:p.(Pro2792Leu)	NC_000016.9:g.70942176G>A	VUS	1 lab	a5189cafd3
2:25384129 POMC G>C	2	25384129	25384129	G	C	POMC	c.625C>G	NM_001035256.3	NP_001030333.1:p.(Leu209Val)	NC_000002.11:g.25384129G>C	(Likely) benign	1 lab	a518c8c221
2:108608560 SLC5A7 A>G	2	108608560	108608560	A	G	SLC5A7	c.179-2A>G	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108608560A>G	VUS	1 lab	a51929ab07
1:237798177 RYR2 T>C	1	237798177	237798177	T	C	RYR2	c.6689-12T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237798177T>C	(Likely) benign	1 lab	a5235f7df5
1:12018389 PLOD1 G>T	1	12018389	12018389	G	T	PLOD1	c.844-184G>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12018389G>T	(Likely) benign	1 lab	a523b97a86
1:53679186 CPT2 T>A	1	53679186	53679186	T	A	CPT2	c.1896T>A	NM_000098.3	NP_000089.1:p.(Asn632Lys)	NC_000001.10:g.53679186T>A	VUS	1 lab	a5267e354a
15:26347700 MISSING Ref too long to show for this DEL>C	15	26347700	26364720	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.26347704_26364720del	VUS	1 lab	a52690801f
12:50500109 GPD1 G>A	12	50500109	50500109	G	A	GPD1	c.399G>A	NM_005276.4	NP_005267.2:p.(Ser133=)	NC_000012.11:g.50500109G>A	(Likely) benign	1 lab	a526f08e30
10:90974739 LIPA T>C	10	90974739	90974739	T	C	LIPA	c.1046A>G	NM_000235.4	NP_000226.2:p.(Asp349Gly)	NC_000010.10:g.90974739T>C	VUS	1 lab	a529862f53
4:16168612 TAPT1 C>A	4	16168612	16168612	C	A	TAPT1	c.1314-196G>T	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16168612C>A	(Likely) benign	1 lab	a52a14557a
12:1003812 WNK1 C>A	12	1003812	1003812	C	A	WNK1	c.6363+11C>A	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.1003812C>A	(Likely) benign	1 lab	a52a88fafb
15:80460421 FAH C>T	15	80460421	80460421	C	T	FAH	c.483C>T	NM_000137.4	NP_000128.1:p.(Gly161=)	NC_000015.9:g.80460421C>T	(Likely) benign	1 lab	a52bf0a25c
20:10625991 JAG1 A>C	20	10625991	10625991	A	C	JAG1	c.2113+13T>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625991A>C	(Likely) benign	1 lab	a52c387e6b
16:939456 LMF1 A>G	16	939456	939456	A	G	LMF1	c.330+3551T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.939456A>G	(Likely) benign	1 lab	a52c53c3b7
2:179404217 TTN CT>C	2	179404217	179404221	CT	C	TTN	c.98574del	NM_001267550.2	NP_001254479.2:p.(Gly32859AlafsTer6)	NC_000002.11:g.179404221del	(Likely) pathogenic	1 lab	a52eaef5ba
2:21228879 APOB C>A	2	21228879	21228879	C	A	APOB	c.10861G>T	NM_000384.3	NP_000375.3:p.(Ala3621Ser)	NC_000002.11:g.21228879C>A	(Likely) benign	1 lab	a52fb5b705
1:55525726 PCSK9 T>G	1	55525726	55525726	T	G	PCSK9	c.1681+390T>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525726T>G	(Likely) benign	1 lab	a53020442b
9:107579632 ABCA1 C>G	9	107579632	107579632	C	G	ABCA1	c.3516G>C	NM_005502.4	NP_005493.2:p.(Glu1172Asp)	NC_000009.11:g.107579632C>G	(Likely) benign	1 lab	a532b94b8b
19:11226807 LDLR A>T	19	11226807	11226807	A	T	LDLR	c.1624A>T	NM_000527.5	NP_000518.1:p.(Ile542Phe)	NC_000019.9:g.11226807A>T	VUS	1 lab	a532e35202
16:29656482 MISSING A>Alt too long to show for this DUP	16	29656482	30198752	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29656483_30198752dup	(Likely) pathogenic	1 lab	a533f7f069
1:161276172 MPZ G>A	1	161276172	161276172	G	A	MPZ	c.531C>T	NM_000530.8	NP_000521.2:p.(Tyr177=)	NC_000001.10:g.161276172G>A	(Likely) benign	1 lab	a534355e61
6:117997116 NUS1 G>T	6	117997116	117997116	G	T	NUS1	c.283G>T	NM_138459.5	NP_612468.1:p.(Glu95Ter)	NC_000006.11:g.117997116G>T	(Likely) pathogenic	1 lab	a53562b09c
6:35477388 TULP1 C>T	6	35477388	35477388	C	T	TULP1	c.718+23G>A	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35477388C>T	(Likely) pathogenic	1 lab	a53a14c731
15:48726865 FBN1 C>G	15	48726865	48726865	C	G	FBN1	c.6542G>C	NM_000138.5	NP_000129.3:p.(Cys2181Ser)	NC_000015.9:g.48726865C>G	(Likely) pathogenic	1 lab	a53bd0c64d
14:102874889 TECPR2 A>G	14	102874889	102874889	A	G	TECPR2	c.413A>G	NM_014844.5	NP_055659.2:p.(Asn138Ser)	NC_000014.8:g.102874889A>G	VUS	1 lab	a53fb8f450
10:13336482 PHYH C>T	10	13336482	13336482	C	T	PHYH	c.60G>A	NM_001323080.2	NP_001310009.1:p.(Lys20=)	NC_000010.10:g.13336482C>T	(Likely) benign	1 lab	a5402cb441
19:40901688 PRX C>T	19	40901688	40901688	C	T	PRX	c.2571G>A	NM_181882.3	NP_870998.2:p.(Val857=)	NC_000019.9:g.40901688C>T	(Likely) benign	1 lab	a540fa673e
6:43970503 LINC03040 C>CGCG	6	43970503	43970531	C	CGCG	LINC03040	n.473_475dup	NR_160955.1		NC_000006.11:g.43970529_43970531dup	(Likely) benign	1 lab	a5422e22a4
1:161278205 MPZ A>C	1	161278205	161278205	A	C	MPZ	c.68-991T>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161278205A>C	(Likely) benign	1 lab	a544378fbe
2:47403618 CALM2 A>G	2	47403618	47403618	A	G	CALM2	c.63T>C	NM_001305624.1	NP_001292553.1:p.(Cys21=)	NC_000002.11:g.47403618A>G	(Likely) benign	1 lab	a54579fda4
19:11210874 LDLR C>A	19	11210874	11210874	C	A	LDLR	c.68-25C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210874C>A	(Likely) benign	1 lab	a548970b8e
16:81397491 GAN T>A	16	81397491	81397491	T	A	GAN	c.1179T>A	NM_022041.4	NP_071324.1:p.(Cys393Ter)	NC_000016.9:g.81397491T>A	(Likely) pathogenic	1 lab	a548b51316
8:77765301 ZFHX4 T>C	8	77765301	77765301	T	C	ZFHX4	c.6144T>C	NM_024721.5	NP_078997.4:p.(Pro2048=)	NC_000008.10:g.77765301T>C	(Likely) benign	1 lab	a5491f6be1
3:14172444 TMEM43 A>C	3	14172444	14172444	A	C	TMEM43	c.285A>C	NM_024334.3	NP_077310.1:p.(Leu95Phe)	NC_000003.11:g.14172444A>C	VUS	1 lab	a54b5cd6a8
15:30386398 MISSING Ref too long to show for this DEL>C	15	30386398	32446830	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.30386399_32446830del	(Likely) pathogenic	1 lab	a54e946aed
10:18629839 CACNB2 C>G	10	18629839	18629839	C	G	CACNB2	c.-17C>G	NM_201590.3	NP_963884.2:p.?	NC_000010.10:g.18629839C>G	(Likely) benign	1 lab	a54f15f114
21:45753113 CFAP410 C>T	21	45753113	45753113	C	T	CFAP410	c.176G>A	NM_001271441.2	NP_001258370.1:p.(Ser59Asn)	NC_000021.8:g.45753113C>T	(Likely) benign	1 lab	a550b86cb5
17:41276080 BRCA1 G>C	17	41276080	41276080	G	C	BRCA1	c.34C>G	NM_007294.4	NP_009225.1:p.(Gln12Glu)	NC_000017.10:g.41276080G>C	(Likely) benign	1 lab	a5522d68f9
9:103014602 INVS CG>C	9	103014602	103014603	CG	C	INVS	c.829del	NM_001318381.2	NP_001305310.1:p.(Val277Ter)	NC_000009.11:g.103014603del	(Likely) pathogenic	1 lab	a564c3e216
7:153890575 DPP6 Ref too long to show for this DEL>A	7	153890575	153954439	Ref too long to show for this DEL	A	DPP6	c.243+140428_244-188860del	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.153890576_153954439del	VUS	1 lab	a55621768c
18:29125767 DSG2 G>A	18	29125767	29125767	G	A	DSG2	c.2418G>A	NM_001943.5	NP_001934.2:p.(Ser806=)	NC_000018.9:g.29125767G>A	(Likely) benign	1 lab	a55a582aff
7:23180404 KLHL7 G>A	7	23180404	23180404	G	A	KLHL7	c.315G>A	NM_018846.5	NP_061334.4:p.(Ala105=)	NC_000007.13:g.23180404G>A	(Likely) benign	1 lab	a55a736f36
6:32009385 TNXB C>T	6	32009385	32009385	C	T	TNXB	c.12628-158G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009385C>T	(Likely) benign	1 lab	a55ed4fde5
5:90103438 ADGRV1 C>T	5	90103438	90103438	C	T	ADGRV1	c.14856C>T	NM_032119.4	NP_115495.3:p.(His4952=)	NC_000005.9:g.90103438C>T	(Likely) benign	1 lab	a55edd10b0
15:90176239 KIF7 T>TAGGGAGGGAGGG	15	90176239	90176256	T	TAGGGAGGGAGGG	KIF7	c.2719-24_2719-13dup	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176245_90176256dup	(Likely) benign	1 lab	a5658409ec
2:182430219 CERKL C>A	2	182430219	182430219	C	A	CERKL	c.696G>T	NM_001030311.3	NP_001025482.1:p.(Leu232Phe)	NC_000002.11:g.182430219C>A	(Likely) benign	1 lab	a569875b20
4:126369722 FAT4 A>C	4	126369722	126369722	A	C	FAT4	c.7557A>C	NM_001291303.3	NP_001278232.1:p.(Pro2519=)	NC_000004.11:g.126369722A>C	(Likely) benign	1 lab	a56c690561
15:72955008 GOLGA6B G>C	15	72955008	72955008	G	C	GOLGA6B	c.1263G>C	NM_018652.4	NP_061122.4:p.(Glu421Asp)	NC_000015.9:g.72955008G>C	(Likely) benign	1 lab	a56df3043f
2:47606959 EPCAM G>T	2	47606959	47606959	G	T	EPCAM	c.709G>T	NM_002354.3	NP_002345.2:p.(Gly237Trp)	NC_000002.11:g.47606959G>T	VUS	1 lab	a56e29ae38
1:26784353 DHDDS G>A	1	26784353	26784353	G	A	DHDDS	c.614G>A	NM_024887.4	NP_079163.2:p.(Arg205Gln)	NC_000001.10:g.26784353G>A	(Likely) pathogenic	1 lab	a56f2231b2
8:1905222 ARHGEF10 A>G	8	1905222	1905222	A	G	ARHGEF10	c.3900A>G	NM_001308153.2	NP_001295082.1:p.(Ser1300=)	NC_000008.10:g.1905222A>G	(Likely) benign	1 lab	a5748eb4ba
12:21325726 SLCO1B1 G>A	12	21325726	21325726	G	A	SLCO1B1	c.226+1G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325726G>A	(Likely) pathogenic	1 lab	a5766f2a12
1:161276680 MPZ A>T	1	161276680	161276680	A	T	MPZ	c.266T>A	NM_000530.8	NP_000521.2:p.(Ile89Asn)	NC_000001.10:g.161276680A>T	(Likely) pathogenic	1 lab	a57c611899
18:58038636 MC4R A>C	18	58038636	58038636	A	C	MC4R	c.947T>G	NM_005912.3	NP_005903.2:p.(Ile316Ser)	NC_000018.9:g.58038636A>C	(Likely) pathogenic	1 lab	a57c7ee988
19:30106264 POP4 G>A	19	30106264	30106264	G	A	POP4	c.640G>A	NM_006627.3	NP_006618.1:p.(Ala214Thr)	NC_000019.9:g.30106264G>A	(Likely) benign	1 lab	a57e00e767
11:116700860 APOC3 C>T	11	116700860	116700860	C	T	APOC3	c.-14+204C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116700860C>T	(Likely) benign	1 lab	a583e34dbd
3:189580876 TP63 C>Alt too long to show for this DUP	3	189580876	189586243	C	Alt too long to show for this DUP	TP63	c.580-1142_993-126dup	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189580879_189586243dup	VUS	1 lab	a587d52fd4
16:921351 LMF1 C>T	16	921351	921351	C	T	LMF1	c.898-10G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921351C>T	(Likely) benign	1 lab	a589f44f71
4:100518211 MTTP G>GT	4	100518211	100518212	G	GT	MTTP	c.910-12dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100518212dup	(Likely) benign	1 lab	a58a9ccad7
14:60976701 SIX6 A>G	14	60976701	60976701	A	G	SIX6	c.572+13A>G	NM_007374.3	NP_031400.2:p.?	NC_000014.8:g.60976701A>G	(Likely) benign	1 lab	a58cc5e0d0
9:107593374 ABCA1 T>A	9	107593374	107593374	T	A	ABCA1	c.1724A>T	NM_005502.4	NP_005493.2:p.(Asp575Val)	NC_000009.11:g.107593374T>A	VUS	1 lab	a58f72d282
17:37822281 TCAP C>T	17	37822281	37822281	C	T	TCAP	c.423C>T	NM_003673.4	NP_003664.1:p.(Pro141=)	NC_000017.10:g.37822281C>T	(Likely) benign	1 lab	a59084d9db
18:28673523 DSC2 T>C	18	28673523	28673523	T	C	DSC2	c.153A>G	NM_004949.5	NP_004940.1:p.(Arg51=)	NC_000018.9:g.28673523T>C	(Likely) benign	1 lab	a5909f27ba
11:108175514 ATM TC>T	11	108175514	108175515	TC	T	ATM	c.5610del	NM_000051.4	NP_000042.3:p.(Phe1870LeufsTer47)	NC_000011.9:g.108175515del	(Likely) pathogenic	1 lab	a591bbdd4b
X:10182084 CLCN4 G>A	X	10182084	10182084	G	A	CLCN4	c.1940G>A	NM_001830.4	NP_001821.2:p.(Gly647Glu)	NC_000023.10:g.10182084G>A	VUS	1 lab	a59231c221
2:44052064 ABCG5 G>A	2	44052064	44052064	G	A	ABCG5	c.868C>T	NM_022436.3	NP_071881.1:p.(Pro290Ser)	NC_000002.11:g.44052064G>A	VUS	1 lab	a5934b1ddc
11:121459988 SORL1 A>G	11	121459988	121459988	A	G	SORL1	c.3967A>G	NM_003105.6	NP_003096.2:p.(Lys1323Glu)	NC_000011.9:g.121459988A>G	(Likely) benign	1 lab	a5936a1d18
1:156844403 NTRK1 C>T	1	156844403	156844403	C	T	NTRK1	c.1236C>T	NM_002529.4	NP_002520.2:p.(Asp412=)	NC_000001.10:g.156844403C>T	(Likely) benign	1 lab	a595137e46
1:237951451 RYR2 A>G	1	237951451	237951451	A	G	RYR2	c.13476+16A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237951451A>G	(Likely) benign	1 lab	a5953fb963
2:152393647 NEB T>A	2	152393647	152393647	T	A	NEB	c.21206A>T	NM_001271208.2	NP_001258137.2:p.(Lys7069Met)	NC_000002.11:g.152393647T>A	VUS	1 lab	a595633514
7:94005888 MISSING Ref too long to show for this DEL>T	7	94005888	94082821	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.94005889_94082821del	VUS	1 lab	a59b9879bf
1:197390110 CRB1 C>T	1	197390110	197390110	C	T	CRB1	c.965-20C>T	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197390110C>T	(Likely) benign	1 lab	a59d9f41d0
17:62152611 ERN1 T>TA	17	62152611	62152626	T	TA	ERN1	c.283-5dup	NM_001433.5	NP_001424.3:p.?	NC_000017.10:g.62152626dup	(Likely) benign	1 lab	a59e295f91
21:43653035 ABCG1 Ref too long to show for this DEL>G	21	43653035	43677822	Ref too long to show for this DEL	G	ABCG1	c.286+7012_287-13358del	NM_016818.3	NP_058198.2:p.?	NC_000021.8:g.43653036_43677822del	VUS	1 lab	a5a114ccea
X:122598835 GRIA3 C>T	X	122598835	122598835	C	T	GRIA3	c.2196C>T	NM_000828.5	NP_000819.4:p.(Phe732=)	NC_000023.10:g.122598835C>T	(Likely) benign	1 lab	a5a6550f9b
2:21228084 APOB G>A	2	21228084	21228084	G	A	APOB	c.11656C>T	NM_000384.3	NP_000375.3:p.(Arg3886Cys)	NC_000002.11:g.21228084G>A	VUS	1 lab	a5a803a3a2
11:121849612 MISSING Ref too long to show for this DEL>G	11	121849612	121905889	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.121849614_121905889del	VUS	1 lab	a5abc8e45b
11:17415190 ABCC8 C>G	11	17415190	17415190	C	G	ABCC8	c.4611+54G>C	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17415190C>G	(Likely) benign	1 lab	a5aec8eb95
3:38645775 SCN5A T>A	3	38645775	38645775	T	A	SCN5A	c.1519-201A>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38645775T>A	(Likely) benign	1 lab	a5c4c37ec1
1:216260093 USH2A G>A	1	216260093	216260093	G	A	USH2A	c.4955C>T	NM_206933.4	NP_996816.3:p.(Pro1652Leu)	NC_000001.10:g.216260093G>A	VUS	1 lab	a5b3a9711c
14:76437667 TGFB3 G>T	14	76437667	76437667	G	T	TGFB3	c.517-69C>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76437667G>T	(Likely) benign	1 lab	a5b49796a9
2:61009813 PAPOLG TAA>T	2	61009813	61009815	TAA	T	PAPOLG	c.1028-7_1028-6del	NM_022894.4	NP_075045.2:p.?	NC_000002.11:g.61009814_61009815del	(Likely) benign	1 lab	a5b5fe51d2
15:79058986 ADAMTS7 C>T	15	79058986	79058986	C	T	ADAMTS7	c.3267G>A	NM_014272.5	NP_055087.2:p.(Ala1089=)	NC_000015.9:g.79058986C>T	(Likely) benign	1 lab	a5b694db22
4:155670291 LRAT T>G	4	155670291	155670291	T	G	LRAT	c.*3T>G	NM_004744.5	NP_004735.2:p.?	NC_000004.11:g.155670291T>G	(Likely) benign	1 lab	a5be359b3c
15:79058820 ADAMTS7 A>G	15	79058820	79058820	A	G	ADAMTS7	c.3433T>C	NM_014272.5	NP_055087.2:p.(Ser1145Pro)	NC_000015.9:g.79058820A>G	(Likely) benign	1 lab	a5bf3e3bfa
X:153690591 PLXNA3 T>C	X	153690591	153690591	T	C	PLXNA3	c.1258T>C	NM_017514.5	NP_059984.3:p.(Tyr420His)	NC_000023.10:g.153690591T>C	VUS	1 lab	a5c01e6002
12:106889893 POLR3B C>T	12	106889893	106889893	C	T	POLR3B	c.2774C>T	NM_018082.6	NP_060552.4:p.(Pro925Leu)	NC_000012.11:g.106889893C>T	(Likely) pathogenic	1 lab	a5c1340f72
13:32972420 BRCA2 A>G	13	32972420	32972420	A	G	BRCA2	c.9770A>G	NM_000059.4	NP_000050.3:p.(Lys3257Arg)	NC_000013.10:g.32972420A>G	(Likely) benign	1 lab	a5c2742caf
20:58333362 PHACTR3 Ref too long to show for this DEL>T	20	58333362	58422864	Ref too long to show for this DEL	T	PHACTR3				NC_000020.10:g.58333363_58422864del	VUS	1 lab	a5c548e79f
7:120428696 TSPAN12 T>C	7	120428696	120428696	T	C	TSPAN12	c.868A>G	NM_012338.4	NP_036470.1:p.(Thr290Ala)	NC_000007.13:g.120428696T>C	(Likely) benign	1 lab	a5c658d3b2
2:149162366 MBD5 Ref too long to show for this DEL>C	2	149162366	149231261	Ref too long to show for this DEL	C	MBD5	c.-556-53405_2518+3231del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149162367_149231261del	(Likely) pathogenic	1 lab	a5c6d132c5
11:110359981 MISSING G>Alt too long to show for this DUP	11	110359981	110468929	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.110359982_110468929dup	VUS	1 lab	a5c810d771
16:46781832 MYLK3 C>T	16	46781832	46781832	C	T	MYLK3	c.274G>A	NM_182493.3	NP_872299.2:p.(Glu92Lys)	NC_000016.9:g.46781832C>T	VUS	1 lab	a880e9fbff
1:22222458 HSPG2 G>A	1	22222458	22222458	G	A	HSPG2	c.201C>T	NM_001291860.2	NP_001278789.1:p.(Asp67=)	NC_000001.10:g.22222458G>A	(Likely) benign	1 lab	a5c9dea4d9
5:60628621 ZSWIM6 C>T	5	60628621	60628621	C	T	ZSWIM6	c.522C>T	NM_020928.2	NP_065979.1:p.(Ala174=)	NC_000005.9:g.60628621C>T	(Likely) benign	1 lab	a5ca570167
2:21227979 APOB C>T	2	21227979	21227979	C	T	APOB	c.11761G>A	NM_000384.3	NP_000375.3:p.(Val3921Ile)	NC_000002.11:g.21227979C>T	(Likely) benign	1 lab	a5cc219a36
17:2227571 TSR1 A>T	17	2227571	2227571	A	T	TSR1	c.2334T>A	NM_018128.5	NP_060598.3:p.(Thr778=)	NC_000017.10:g.2227571A>T	(Likely) benign	1 lab	a5ce95726a
2:179641303 TTN T>C	2	179641303	179641303	T	C	TTN	c.5288A>G	NM_001267550.2	NP_001254479.2:p.(Asp1763Gly)	NC_000002.11:g.179641303T>C	VUS	1 lab	a5cf1ad5e9
16:67976294 LCAT G>A	16	67976294	67976294	G	A	LCAT	c.720C>T	NM_000229.2	NP_000220.1:p.(Ser240=)	NC_000016.9:g.67976294G>A	VUS	1 lab	a5d32b524c
12:109924385 UBE3B C>CA	12	109924385	109924408	C	CA	UBE3B	c.447+28dup	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924408dup	(Likely) benign	1 lab	a5d7744aed
1:25890188 LDLRAP1 C>T	1	25890188	25890188	C	T	LDLRAP1	c.653C>T	NM_015627.3	NP_056442.2:p.(Thr218Ile)	NC_000001.10:g.25890188C>T	(Likely) benign	1 lab	a5dcee1429
11:108206651 ATM A>C	11	108206651	108206651	A	C	ATM	c.8231A>C	NM_000051.4	NP_000042.3:p.(Glu2744Ala)	NC_000011.9:g.108206651A>C	VUS	1 lab	a5dd7a2a90
14:23902884 MYH7 C>T	14	23902884	23902884	C	T	MYH7	c.58G>A	NM_000257.4	NP_000248.2:p.(Glu20Lys)	NC_000014.8:g.23902884C>T	VUS	1 lab	a5e0357da0
2:62067233 FAM161A T>C	2	62067233	62067233	T	C	FAM161A	c.906A>G	NM_001201543.2	NP_001188472.1:p.(Gln302=)	NC_000002.11:g.62067233T>C	(Likely) benign	1 lab	a5e434fa4b
19:1220368 STK11 G>A	19	1220368	1220368	G	A	STK11	c.465-4G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220368G>A	(Likely) benign	1 lab	a5e63fcd80
15:72050101 THSD4 T>C	15	72050101	72050101	T	C	THSD4	c.2416-140T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72050101T>C	(Likely) benign	1 lab	a5e8b23616
4:114277725 ANK2 G>C	4	114277725	114277725	G	C	ANK2	c.7951G>C	NM_001148.6	NP_001139.3:p.(Val2651Leu)	NC_000004.11:g.114277725G>C	VUS	1 lab	a5eb351539
21:47542443 COL6A2 G>A	21	47542443	47542443	G	A	COL6A2	c.1606G>A	NM_058175.3	NP_478055.2:p.(Glu536Lys)	NC_000021.8:g.47542443G>A	VUS	1 lab	a5ed11e981
21:35821695 KCNE1 C>A	21	35821695	35821695	C	A	KCNE1	c.238G>T	NM_000219.6	NP_000210.2:p.(Val80Phe)	NC_000021.8:g.35821695C>A	(Likely) benign	1 lab	a5f05ede12
17:17118372 FLCN C>T	17	17118372	17118372	C	T	FLCN	c.1465G>A	NM_144997.7	NP_659434.2:p.(Ala489Thr)	NC_000017.10:g.17118372C>T	(Likely) benign	1 lab	a5f4e34865
17:7750532 KDM6B G>GC	17	7750532	7750538	G	GC	KDM6B	c.1025dup	NM_001080424.2	NP_001073893.1:p.(Gly343ArgfsTer17)	NC_000017.10:g.7750538dup	(Likely) pathogenic	1 lab	a5f8c6fc2a
2:47403622 CALM2 C>G	2	47403622	47403622	C	G	CALM2	c.59G>C	NM_001305624.1	NP_001292553.1:p.(Gly20Ala)	NC_000002.11:g.47403622C>G	(Likely) benign	1 lab	a6005ec0ef
15:48796188 FBN1 A>AC	15	48796188	48796194	A	AC	FBN1	c.1961-53dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48796194dup	(Likely) benign	1 lab	a60386d364
19:52693428 PPP2R1A G>T	19	52693428	52693428	G	T	PPP2R1A	c.78+1G>T	NM_014225.6	NP_055040.2:p.?	NC_000019.9:g.52693428G>T	VUS	1 lab	a60394ef4d
11:31814879 PAX6 G>A	11	31814879	31814879	G	A	PAX6	c.1025+107C>T	NM_000280.5	NP_000271.1:p.?	NC_000011.9:g.31814879G>A	(Likely) benign	1 lab	a604c715e5
5:13751186 DNAH5 C>T	5	13751186	13751186	C	T	DNAH5	c.11211+1G>A	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13751186C>T	(Likely) pathogenic	1 lab	a60917a1e0
2:179610530 TTN A>C	2	179610530	179610530	A	C	TTN	c.16597T>G	NM_133379.5	NP_596870.2:p.(Phe5533Val)	NC_000002.11:g.179610530A>C	(Likely) benign	1 lab	a6128ce5dc
12:124267703 DNAH10 T>C	12	124267703	124267703	T	C	DNAH10	c.708T>C	NM_207437.3	NP_997320.2:p.(Ser236=)	NC_000012.11:g.124267703T>C	(Likely) benign	1 lab	a6163ad943
3:195739273 MISSING Ref too long to show for this DEL>T	3	195739273	197344178	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.195739277_197344178del	(Likely) pathogenic	1 lab	a619102820
6:32011204 TNXB G>C	6	32011204	32011204	G	C	TNXB	c.11644+10C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011204G>C	(Likely) benign	1 lab	a61bbe4362
19:45452103 APOC2 A>C	19	45452103	45452103	A	C	APOC2	c.201A>C	NM_000483.5	NP_000474.2:p.(Val67=)	NC_000019.9:g.45452103A>C	VUS	1 lab	a6214f41f2
16:29628661 MISSING A>Alt too long to show for this DUP	16	29628661	29752085	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29628662_29752085dup	VUS	1 lab	a621dede41
17:29663625 NF1 T>TAAA	17	29663625	29663636	T	TAAA	NF1	c.6148-19_6148-17dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29663634_29663636dup	(Likely) benign	1 lab	a6229f7c9b
16:70371536 MISSING G>Alt too long to show for this DUP	16	70371536	70398721	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70371539_70398721dup	VUS	1 lab	a623b82d98
22:29876520 NEFH C>T	22	29876520	29876520	C	T	NEFH	c.269C>T	NM_021076.4	NP_066554.2:p.(Ala90Val)	NC_000022.10:g.29876520C>T	(Likely) benign	1 lab	a6249c7380
18:66348256 TMX3 C>T	18	66348256	66348256	C	T	TMX3	c.997G>A	NM_019022.5	NP_061895.3:p.(Val333Ile)	NC_000018.9:g.66348256C>T	(Likely) benign	1 lab	a627219679
11:121429476 SORL1 C>T	11	121429476	121429476	C	T	SORL1	c.2840C>T	NM_003105.6	NP_003096.2:p.(Thr947Met)	NC_000011.9:g.121429476C>T	(Likely) benign	1 lab	a62a97f358
12:2676929 CACNA1C G>A	12	2676929	2676929	G	A	CACNA1C	c.1864G>A	NM_001167623.2	NP_001161095.1:p.(Val622Ile)	NC_000012.11:g.2676929G>A	VUS	1 lab	a62f6488c6
13:113153311 MISSING A>Alt too long to show for this DUP	13	113153311	113255137	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.113153312_113255137dup	VUS	1 lab	a63277db57
22:37903975 CARD10 G>A	22	37903975	37903975	G	A	CARD10	c.1066-14C>T	NM_014550.4	NP_055365.2:p.?	NC_000022.10:g.37903975G>A	(Likely) benign	1 lab	a63b1b5d43
15:88934063 MISSING Ref too long to show for this DEL>T	15	88934063	90802371	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.88934064_90802371del	(Likely) pathogenic	1 lab	a63b34471b
8:1900992 ARHGEF10 C>T	8	1900992	1900992	C	T	ARHGEF10	c.3591C>T	NM_001308153.2	NP_001295082.1:p.(Thr1197=)	NC_000008.10:g.1900992C>T	(Likely) benign	1 lab	a63d4a0239
1:63064467 ANGPTL3 T>C	1	63064467	63064467	T	C	ANGPTL3	c.596T>C	NM_014495.4	NP_055310.1:p.(Ile199Thr)	NC_000001.10:g.63064467T>C	VUS	1 lab	a63ffe4839
X:71791960 HDAC8 C>T	X	71791960	71791960	C	T	HDAC8	c.112-1G>A	NM_001166419.2	NP_001159891.1:p.?	NC_000023.10:g.71791960C>T	(Likely) pathogenic	1 lab	a645dfe775
2:55615950 CCDC88A T>C	2	55615950	55615950	T	C	CCDC88A	c.237A>G	NM_001135597.2	NP_001129069.1:p.(Leu79=)	NC_000002.11:g.55615950T>C	(Likely) benign	1 lab	a64691ca72
18:47088675 LIPG C>G	18	47088675	47088675	C	G	LIPG	c.-4C>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088675C>G	(Likely) benign	1 lab	a647ca5ebf
2:1805538 MYT1L TCTAA>T	2	1805538	1805544	TCTAA	T	MYT1L	c.3196_3199del	NM_015025.4	NP_055840.2:p.(Leu1066MetfsTer7)	NC_000002.11:g.1805541_1805544del	(Likely) pathogenic	1 lab	a64afc484e
2:177086279 MISSING T>Alt too long to show for this DUP	2	177086279	177166384	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.177086282_177166384dup	VUS	1 lab	a64b17852a
11:298622 IFITM5 G>A	11	298622	298622	G	A	IFITM5	c.278C>T	NM_001025295.3	NP_001020466.1:p.(Thr93Met)	NC_000011.9:g.298622G>A	(Likely) benign	1 lab	a64de9ee44
2:74605121 DCTN1 G>C	2	74605121	74605121	G	C	DCTN1	c.279+6C>G	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74605121G>C	(Likely) benign	1 lab	a64e71c070
1:214625224 PTPN14 C>T	1	214625224	214625224	C	T	PTPN14	c.268G>A	NM_005401.5	NP_005392.2:p.(Ala90Thr)	NC_000001.10:g.214625224C>T	(Likely) benign	1 lab	a64f4959c5
2:179418254 TTN T>C	2	179418254	179418254	T	C	TTN	c.81774A>G	NM_133378.4	NP_596869.4:p.(Glu27258=)	NC_000002.11:g.179418254T>C	(Likely) benign	1 lab	a651047687
8:10467609 RP1L1 T>C	8	10467609	10467609	T	C	RP1L1	c.3999A>G	NM_178857.6	NP_849188.4:p.(Glu1333=)	NC_000008.10:g.10467609T>C	(Likely) benign	1 lab	a6511e0adc
14:38367231 MISSING Ref too long to show for this DEL>A	14	38367231	38468988	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.38367233_38468988del	VUS	1 lab	a6516a1a69
18:47095699 LIPG C>T	18	47095699	47095699	C	T	LIPG	c.460-108C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095699C>T	(Likely) benign	1 lab	a652f1f4c6
8:76468309 HNF4G GTT>G	8	76468309	76468321	GTT	G	HNF4G	c.592+16_592+17del	NM_001330561.2	NP_001317490.1:p.?	NC_000008.10:g.76468320_76468321del	(Likely) benign	1 lab	a6579fa234
12:21327563 SLCO1B1 A>G	12	21327563	21327563	A	G	SLCO1B1	c.279A>G	NM_006446.5	NP_006437.3:p.(Arg93=)	NC_000012.11:g.21327563A>G	(Likely) benign	1 lab	a65a46a776
2:27699581 IFT172 A>G	2	27699581	27699581	A	G	IFT172	c.1338T>C	NM_015662.3	NP_056477.1:p.(Asn446=)	NC_000002.11:g.27699581A>G	(Likely) benign	1 lab	a65b1614c9
X:65253434 VSIG4 G>A	X	65253434	65253434	G	A	VSIG4	c.294C>T	NM_001184830.2	NP_001171759.1:p.(Leu98=)	NC_000023.10:g.65253434G>A	(Likely) benign	1 lab	a65dbc0169
19:17988685 SLC5A5 G>A	19	17988685	17988685	G	A	SLC5A5	c.839+13G>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17988685G>A	(Likely) benign	1 lab	a65f8c4fbe
5:121412656 LOX C>T	5	121412656	121412656	C	T	LOX	c.672G>A	NM_002317.7	NP_002308.2:p.(Ala224=)	NC_000005.9:g.121412656C>T	(Likely) benign	1 lab	a6623f54d0
4:656935 PDE6B C>G	4	656935	656935	C	G	PDE6B	c.1879C>G	NM_000283.4	NP_000274.3:p.(Arg627Gly)	NC_000004.11:g.656935C>G	VUS	1 lab	a6631bfec7
22:33254000 TIMP3 G>A	22	33254000	33254000	G	A	TIMP3	c.317-4G>A	NM_000362.5	NP_000353.1:p.?	NC_000022.10:g.33254000G>A	(Likely) benign	1 lab	a6666ea1a4
14:105169540 INF2 G>A	14	105169540	105169540	G	A	INF2	c.490G>A	NM_001031714.4	NP_001026884.3:p.(Ala164Thr)	NC_000014.8:g.105169540G>A	VUS	1 lab	a6680f6ded
15:28116364 OCA2 A>G	15	28116364	28116364	A	G	OCA2	c.2180T>C	NM_000275.3	NP_000266.2:p.(Leu727Pro)	NC_000015.9:g.28116364A>G	(Likely) pathogenic	1 lab	a669825405
17:7911300 GUCY2D C>T	17	7911300	7911300	C	T	GUCY2D	c.1618C>T	NM_000180.4	NP_000171.1:p.(Arg540Cys)	NC_000017.10:g.7911300C>T	VUS	1 lab	a66ca14515
16:84043372 SLC38A8 C>T	16	84043372	84043372	C	T	SLC38A8	c.*17G>A	NM_001080442.3	NP_001073911.1:p.?	NC_000016.9:g.84043372C>T	(Likely) benign	1 lab	a67274ac61
19:11227814 LDLR CTT>C	19	11227814	11227831	CTT	C	LDLR	c.1845+156_1845+157del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227830_11227831del	(Likely) benign	1 lab	a677570a2e
15:72041081 THSD4 C>A	15	72041081	72041081	C	A	THSD4	c.1335+148C>A	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72041081C>A	(Likely) benign	1 lab	a67a176b3d
18:28673543 DSC2 C>T	18	28673543	28673543	C	T	DSC2	c.133G>A	NM_004949.5	NP_004940.1:p.(Ala45Thr)	NC_000018.9:g.28673543C>T	VUS	1 lab	a67cdf1421
15:72853804 ARIH1 A>G	15	72853804	72853804	A	G	ARIH1	c.738-20A>G	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72853804A>G	(Likely) benign	1 lab	a67f07df0f
2:44101585 ABCG8 A>G	2	44101585	44101585	A	G	ABCG8	c.1451A>G	NM_022437.3	NP_071882.1:p.(Asp484Gly)	NC_000002.11:g.44101585A>G	VUS	1 lab	a68415fa3f
2:21230269 APOB G>A	2	21230269	21230269	G	A	APOB	c.9471C>T	NM_000384.3	NP_000375.3:p.(Gly3157=)	NC_000002.11:g.21230269G>A	(Likely) benign	1 lab	a68547459f
18:10759554 PIEZO2 C>T	18	10759554	10759554	C	T	PIEZO2	c.3608G>A	NM_022068.4	NP_071351.2:p.(Ser1203Asn)	NC_000018.9:g.10759554C>T	(Likely) benign	1 lab	a68961c0c2
4:88536050 DSPP AG>A	4	88536050	88536051	AG	A	DSPP	c.2237del	NM_014208.3	NP_055023.2:p.(Ser746ThrfsTer568)	NC_000004.11:g.88536051del	(Likely) pathogenic	1 lab	a68a932678
5:15937010 FBXL7 C>T	5	15937010	15937010	C	T	FBXL7	c.1191C>T	NM_012304.5	NP_036436.1:p.(Leu397=)	NC_000005.9:g.15937010C>T	(Likely) benign	1 lab	a68bf2fe1e
13:32912886 BRCA2 AATTAC>A	13	32912886	32912894	AATTAC	A	BRCA2	c.4398_4402del	NM_000059.4	NP_000050.3:p.(Leu1466PhefsTer2)	NC_000013.10:g.32912890_32912894del	(Likely) pathogenic	1 lab	a68d7d4633
12:88477004 CEP290 A>G	12	88477004	88477004	A	G	CEP290	c.4816T>C	NM_025114.4	NP_079390.3:p.(Leu1606=)	NC_000012.11:g.88477004A>G	(Likely) benign	1 lab	a68dfae1c8
3:57875756 SLMAP T>C	3	57875756	57875756	T	C	SLMAP	c.-161T>C	NM_001304422.3	NP_001291351.1:p.?	NC_000003.11:g.57875756T>C	(Likely) benign	1 lab	a68ed807a2
3:52486268 TNNC1 T>G	3	52486268	52486268	T	G	TNNC1	c.56A>C	NM_003280.3	NP_003271.1:p.(Glu19Ala)	NC_000003.11:g.52486268T>G	VUS	1 lab	a690543b14
2:179440585 TTN C>G	2	179440585	179440585	C	G	TTN	c.70274G>C	NM_001267550.2	NP_001254479.2:p.(Ser23425Thr)	NC_000002.11:g.179440585C>G	VUS	1 lab	a6927b0c6e
14:54417255 BMP4 A>T	14	54417255	54417255	A	T	BMP4	c.722T>A	NM_001347916.1	NP_001334845.1:p.(Leu241His)	NC_000014.8:g.54417255A>T	VUS	1 lab	a692f247ce
16:53686496 RPGRIP1L G>A	16	53686496	53686496	G	A	RPGRIP1L	c.2103C>T	NM_001330538.2	NP_001317467.1:p.(His701=)	NC_000016.9:g.53686496G>A	(Likely) benign	1 lab	a69433994c
12:2431559 CACNA1C C>Alt too long to show for this DUP	12	2431559	2450596	C	Alt too long to show for this DUP	CACNA1C	c.478-126581_478-107546dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2431561_2450596dup	VUS	1 lab	a69cf9bae0
5:180047711 FLT4 G>C	5	180047711	180047711	G	C	FLT4	c.2304C>G	NM_182925.5	NP_891555.2:p.(Ser768=)	NC_000005.9:g.180047711G>C	(Likely) benign	1 lab	a69feca016
2:165947240 SCN3A A>G	2	165947240	165947240	A	G	SCN3A	c.5423T>C	NM_006922.4	NP_008853.3:p.(Ile1808Thr)	NC_000002.11:g.165947240A>G	VUS	1 lab	a6a6b6f86f
Y:9569475 MISSING T>Alt too long to show for this DUP	Y	9569475	9670178	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.9569478_9670178dup	(Likely) pathogenic	1 lab	a6aacc2a69
18:28650734 DSC2 G>A	18	28650734	28650734	G	A	DSC2	c.2208C>T	NM_004949.5	NP_004940.1:p.(Asn736=)	NC_000018.9:g.28650734G>A	(Likely) benign	1 lab	a6ac6f758a
3:47882649 DHX30 G>A	3	47882649	47882649	G	A	DHX30	c.532G>A	NM_014966.4	NP_055781.2:p.(Ala178Thr)	NC_000003.11:g.47882649G>A	(Likely) benign	1 lab	a6ac76a70e
16:89347188 ANKRD11 GC>G	16	89347188	89347190	GC	G	ANKRD11	c.5761del	NM_013275.6	NP_037407.4:p.(Ala1921ProfsTer42)	NC_000016.9:g.89347190del	(Likely) pathogenic	1 lab	a6ad563787
9:137659238 COL5A1 C>T	9	137659238	137659238	C	T	COL5A1	c.2232+38C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137659238C>T	(Likely) benign	1 lab	a6b536eb78
2:44066227 ABCG8 C>T	2	44066227	44066227	C	T	ABCG8	c.35C>T	NM_022437.3	NP_071882.1:p.(Pro12Leu)	NC_000002.11:g.44066227C>T	VUS	1 lab	a6b614b6fc
3:69036524 EOGT GA>G	3	69036524	69036537	GA	G	EOGT	c.1152+71del	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69036537del	(Likely) benign	1 lab	a6b726928d
14:102481498 DYNC1H1 G>A	14	102481498	102481498	G	A	DYNC1H1	c.7071G>A	NM_001376.5	NP_001367.2:p.(Ser2357=)	NC_000014.8:g.102481498G>A	(Likely) benign	1 lab	a6b909b0d5
3:53845320 CACNA1D C>T	3	53845320	53845320	C	T	CACNA1D	c.6433C>T	NM_000720.4	NP_000711.1:p.(Arg2145Trp)	NC_000003.11:g.53845320C>T	VUS	1 lab	a6b96565e3
14:105179236 INF2 C>T	14	105179236	105179236	C	T	INF2	c.2682C>T	NM_001031714.4	NP_001026884.3:p.(Ala894=)	NC_000014.8:g.105179236C>T	(Likely) benign	1 lab	a6b9d7b5f4
3:38651364 SCN5A G>A	3	38651364	38651364	G	A	SCN5A	c.795C>T	NM_001099404.2	NP_001092874.1:p.(Ala265=)	NC_000003.11:g.38651364G>A	(Likely) benign	1 lab	a6b9ed8acd
1:103343566 COL11A1 G>C	1	103343566	103343566	G	C	COL11A1	c.*9C>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103343566G>C	(Likely) benign	1 lab	a6bb27e2e3
12:110252312 TRPV4 G>C	12	110252312	110252312	G	C	TRPV4	c.290C>G	NM_021625.5	NP_067638.3:p.(Pro97Arg)	NC_000012.11:g.110252312G>C	(Likely) pathogenic	1 lab	a6be1ebf98
1:22181803 HSPG2 T>C	1	22181803	22181803	T	C	HSPG2	c.5994A>G	NM_001291860.2	NP_001278789.1:p.(Pro1998=)	NC_000001.10:g.22181803T>C	(Likely) benign	1 lab	a6c6a6903d
6:32009661 TNXB C>T	6	32009661	32009661	C	T	TNXB	c.12514G>A	NM_019105.8	NP_061978.6:p.(Asp4172Asn)	NC_000006.11:g.32009661C>T	VUS	1 lab	a6c784ccb1
2:21225580 APOB A>G	2	21225580	21225580	A	G	APOB	c.12714T>C	NM_000384.3	NP_000375.3:p.(Gly4238=)	NC_000002.11:g.21225580A>G	(Likely) benign	1 lab	a6c9d87c1f
16:1004971 LMF1 T>TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACAC	16	1004971	1004972	T	TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACAC	LMF1	c.-361-306_-361-305insGTGTGTGTGTGTGTGCACAGACCCCGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTCGCTTAG	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004971_1004972insCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACAC	(Likely) benign	1 lab	a6cb6a8837
18:3881987 DLGAP1 Ref too long to show for this DEL>T	18	3881987	4436189	Ref too long to show for this DEL	T	DLGAP1	c.-267+18817_-72-1848del	NM_004746.4	NP_004737.2:p.?	NC_000018.9:g.3881988_4436189del	(Likely) pathogenic	1 lab	a6cc8c31f9
14:23862941 MYH6 C>A	14	23862941	23862941	C	A	MYH6	c.2862G>T	NM_002471.4	NP_002462.2:p.(Lys954Asn)	NC_000014.8:g.23862941C>A	VUS	1 lab	a7b8dc10b9
7:44371211 MISSING T>Alt too long to show for this DUP	7	44371211	44494881	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.44371213_44494881dup	VUS	1 lab	a6ccacd947
1:43213103 P3H1 A>C	1	43213103	43213103	A	C	P3H1	c.1915-20T>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43213103A>C	(Likely) benign	1 lab	a6ce4eb7f7
7:100850144 PLOD3 G>A	7	100850144	100850144	G	A	PLOD3	c.1977C>T	NM_001084.5	NP_001075.1:p.(Asp659=)	NC_000007.13:g.100850144G>A	(Likely) benign	1 lab	a6fca19d4c
1:33245802 YARS1 C>G	1	33245802	33245802	C	G	YARS1	c.1218G>C	NM_003680.4	NP_003671.1:p.(Leu406=)	NC_000001.10:g.33245802C>G	(Likely) benign	1 lab	a6d2c41f00
8:22034183 BMP1 C>T	8	22034183	22034183	C	T	BMP1	c.551+20C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22034183C>T	(Likely) benign	1 lab	a6d37ec7be
3:7621009 MISSING C>Alt too long to show for this DUP	3	7621009	8141394	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.7621010_8141394dup	VUS	1 lab	a6d4cffdd9
9:135140391 SETX G>A	9	135140391	135140391	G	A	SETX	c.7288-19C>T	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135140391G>A	(Likely) benign	1 lab	a6d57a2950
3:49689884 BSN G>A	3	49689884	49689884	G	A	BSN	c.2895G>A	NM_003458.4	NP_003449.2:p.(Glu965=)	NC_000003.11:g.49689884G>A	(Likely) benign	1 lab	a6d5beaa98
10:88649949 BMPR1A C>T	10	88649949	88649949	C	T	BMPR1A	c.198C>T	NM_004329.3	NP_004320.2:p.(His66=)	NC_000010.10:g.88649949C>T	(Likely) benign	1 lab	a6da7f58ee
2:44053637 ABCG5 T>C	2	44053637	44053637	T	C	ABCG5	c.658A>G	NM_022436.3	NP_071881.1:p.(Thr220Ala)	NC_000002.11:g.44053637T>C	VUS	1 lab	a6dbf8015b
5:176939989 DDX41 C>T	5	176939989	176939989	C	T	DDX41	c.1302+23G>A	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176939989C>T	(Likely) benign	1 lab	a6de6aa0bf
19:40902423 PRX G>A	19	40902423	40902423	G	A	PRX	c.1836C>T	NM_181882.3	NP_870998.2:p.(Ala612=)	NC_000019.9:g.40902423G>A	(Likely) benign	1 lab	a6e4f15352
18:47101773 LIPG C>T	18	47101773	47101773	C	T	LIPG	c.606C>T	NM_006033.4	NP_006024.1:p.(Ala202=)	NC_000018.9:g.47101773C>T	(Likely) benign	1 lab	a6fd9f572b
19:11231052 LDLR A>ACTGGTGT	19	11231052	11231059	A	ACTGGTGT	LDLR	c.1995_2001dup	NM_000527.5	NP_000518.1:p.(Glu668LeufsTer3)	NC_000019.9:g.11231053_11231059dup	(Likely) pathogenic	1 lab	a6ed4f8b60
4:114038503 ANK2 G>GA	4	114038503	114038510	G	GA	ANK2	c.65dup	NM_001354230.2	NP_001341159.1:p.(Asn22LysfsTer3)	NC_000004.11:g.114038510dup	VUS	1 lab	a6ee57fb73
2:179527733 TTN C>T	2	179527733	179527733	C	T	TTN	c.36750G>A	NM_001267550.2	NP_001254479.2:p.(Pro12250=)	NC_000002.11:g.179527733C>T	(Likely) benign	1 lab	a6f05dd883
16:68842487 CDH1 T>C	16	68842487	68842487	T	C	CDH1	c.531+17T>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68842487T>C	(Likely) benign	1 lab	a6f2e34841
8:55537274 RP1 G>T	8	55537274	55537274	G	T	RP1	c.832G>T	NM_006269.2	NP_006260.1:p.(Val278Phe)	NC_000008.10:g.55537274G>T	VUS	1 lab	a6f6ddd374
1:237057665 MTR G>A	1	237057665	237057665	G	A	MTR	c.3213G>A	NM_000254.3	NP_000245.2:p.(Lys1071=)	NC_000001.10:g.237057665G>A	(Likely) benign	1 lab	a6f8b32d4e
20:42815349 JPH2 A>T	20	42815349	42815349	A	T	JPH2	c.-4T>A	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42815349A>T	(Likely) benign	1 lab	a6f9d43a84
X:18646572 CDKL5 C>T	X	18646572	18646572	C	T	CDKL5	c.2578C>T	NM_003159.3	NP_003150.1:p.(Gln860Ter)	NC_000023.10:g.18646572C>T	(Likely) pathogenic	1 lab	a6fb371680
6:32020512 TNXB T>C	6	32020512	32020512	T	C	TNXB	c.9044A>G	NM_019105.8	NP_061978.6:p.(Lys3015Arg)	NC_000006.11:g.32020512T>C	(Likely) benign	1 lab	a6fb5f3c5b
19:11223968 LDLR C>G	19	11223968	11223968	C	G	LDLR	c.1201C>G	NM_000527.5	NP_000518.1:p.(Leu401Val)	NC_000019.9:g.11223968C>G	(Likely) pathogenic	1 lab	a6fee2ca24
16:1004450 LMF1 G>A	16	1004450	1004450	G	A	LMF1	c.83C>T	NM_001352019.2	NP_001338948.1:p.(Ser28Leu)	NC_000016.9:g.1004450G>A	VUS	1 lab	a6fffa2a65
2:179597728 TTN T>C	2	179597728	179597728	T	C	TTN	c.12443A>G	NM_133378.4	NP_596869.4:p.(Lys4148Arg)	NC_000002.11:g.179597728T>C	VUS	1 lab	a701703cd4
16:57005926 CETP C>T	16	57005926	57005926	C	T	CETP	c.681C>T	NM_000078.3	NP_000069.2:p.(Asp227=)	NC_000016.9:g.57005926C>T	(Likely) benign	1 lab	a706ede473
19:3633453 PIP5K1C G>A	19	3633453	3633453	G	A	PIP5K1C	c.1986C>T	NM_012398.3	NP_036530.1:p.(Ser662=)	NC_000019.9:g.3633453G>A	(Likely) benign	1 lab	a70849e105
7:893091 SUN1 C>T	7	893091	893091	C	T	SUN1	c.1099C>T	NM_001130965.3	NP_001124437.1:p.(Gln367Ter)	NC_000007.13:g.893091C>T	VUS	1 lab	a70ae00468
15:62202482 VPS13C C>T	15	62202482	62202482	C	T	VPS13C	c.8738G>A	NM_001018088.3	NP_001018098.1:p.(Ser2913Asn)	NC_000015.9:g.62202482C>T	(Likely) benign	1 lab	a70c970967
15:92940610 ST8SIA2 T>Alt too long to show for this DUP	15	92940610	92994224	T	Alt too long to show for this DUP	ST8SIA2	c.98+3221_842+6065dup	NM_006011.4	NP_006002.1:p.?	NC_000015.9:g.92940613_92994224dup	VUS	1 lab	a70e8958ac
2:179469030 TTN G>A	2	179469030	179469030	G	A	TTN	c.54384C>T	NM_001267550.2	NP_001254479.2:p.(Ile18128=)	NC_000002.11:g.179469030G>A	(Likely) benign	1 lab	a70f42c93a
16:71163674 HYDIN C>CA	16	71163674	71163680	C	CA	HYDIN	c.1095dup	NM_001270974.2	NP_001257903.1:p.(Glu366Ter)	NC_000016.9:g.71163680dup	VUS	1 lab	a711b2a133
2:179404567 TTN C>T	2	179404567	179404567	C	T	TTN	c.98225G>A	NM_001267550.2	NP_001254479.2:p.(Gly32742Asp)	NC_000002.11:g.179404567C>T	VUS	1 lab	a7127e1761
7:150745974 MISSING T>C	7	150745974	150745974	T	C	MISSING				NC_000007.13:g.150745974T>C	VUS	1 lab	a7165ac71d
16:47709428 PHKB ACACTCT>A	16	47709428	47709435	ACACTCT	A	PHKB	c.2609+6102_2609+6107del	NM_001031835.3	NP_001027005.1:p.?	NC_000016.9:g.47709430_47709435del	(Likely) benign	1 lab	a717741022
15:72069691 THSD4 C>T	15	72069691	72069691	C	T	THSD4	c.3035C>T	NM_024817.2	NP_079093.2:p.(Thr1012Met)	NC_000015.9:g.72069691C>T	(Likely) benign	1 lab	a71a203ea1
5:14297290 TRIO A>G	5	14297290	14297290	A	G	TRIO	c.1286A>G	NM_007118.4	NP_009049.2:p.(Glu429Gly)	NC_000005.9:g.14297290A>G	VUS	1 lab	a71ad319c7
8:96259972 CFAP418 A>T	8	96259972	96259972	A	T	CFAP418	c.497T>A	NM_177965.4	NP_808880.1:p.(Leu166Ter)	NC_000008.10:g.96259972A>T	(Likely) pathogenic	1 lab	a71d255481
20:49508617 ADNP ACTGT>A	20	49508617	49508624	ACTGT	A	ADNP	c.2630_2633del	NM_001282531.3	NP_001269460.1:p.(Asp877ValfsTer36)	NC_000020.10:g.49508621_49508624del	(Likely) pathogenic	1 lab	a722567f9a
2:21255273 APOB A>G	2	21255273	21255273	A	G	APOB	c.1305T>C	NM_000384.3	NP_000375.3:p.(Asp435=)	NC_000002.11:g.21255273A>G	(Likely) benign	1 lab	a722eeab8d
5:90445826 ADGRV1 CTT>C	5	90445826	90445842	CTT	C	ADGRV1	c.18433-6_18433-5del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445841_90445842del	(Likely) benign	1 lab	a725d65a66
19:15278124 NOTCH3 C>A	19	15278124	15278124	C	A	NOTCH3	c.5298G>T	NM_000435.3	NP_000426.2:p.(Met1766Ile)	NC_000019.9:g.15278124C>A	(Likely) benign	1 lab	a726e864c9
6:150715238 IYD C>G	6	150715238	150715238	C	G	IYD	c.534C>G	NM_001164694.2	NP_001158166.1:p.(Thr178=)	NC_000006.11:g.150715238C>G	(Likely) benign	1 lab	a7301b6ac5
3:10132127 FANCD2 AT>A	3	10132127	10132155	AT	A	FANCD2	c.3777+86del	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10132155del	(Likely) benign	1 lab	a732becd9e
5:127800571 FBN2 C>A	5	127800571	127800571	C	A	FBN2	c.672G>T	NM_001999.4	NP_001990.2:p.(Met224Ile)	NC_000005.9:g.127800571C>A	VUS	1 lab	a736f12792
4:100534149 MTTP C>T	4	100534149	100534149	C	T	MTTP	c.2069C>T	NM_000253.4	NP_000244.2:p.(Ala690Val)	NC_000004.11:g.100534149C>T	VUS	1 lab	a73976d302
19:11223937 LDLR G>A	19	11223937	11223937	G	A	LDLR	c.1187-17G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223937G>A	VUS	1 lab	a73d64e55f
7:146088457 CNTNAP2 Ref too long to show for this DEL>A	7	146088457	146697820	Ref too long to show for this DEL	A	CNTNAP2	c.97+274394_403-43179del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146088459_146697820del	(Likely) pathogenic	1 lab	a73f40ead2
1:25870172 LDLRAP1 C>T	1	25870172	25870172	C	T	LDLRAP1	c.-18C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870172C>T	VUS	1 lab	a7414de8a2
10:71052042 HK1 T>A	10	71052042	71052042	T	A	HK1	c.56T>A	NM_001322365.2	NP_001309294.1:p.(Leu19Gln)	NC_000010.10:g.71052042T>A	(Likely) benign	1 lab	a74786fa0b
1:6528150 PLEKHG5 T>G	1	6528150	6528150	T	G	PLEKHG5	c.2746A>C	NM_198681.4	NP_941374.3:p.(Thr916Pro)	NC_000001.10:g.6528150T>G	VUS	1 lab	a748ba38d8
15:58830650 LIPC G>A	15	58830650	58830650	G	A	LIPC	c.207G>A	NM_000236.3	NP_000227.2:p.(Pro69=)	NC_000015.9:g.58830650G>A	(Likely) benign	1 lab	a7497bf470
1:55505552 PCSK9 ACTG>A	1	55505552	55505575	ACTG	A	PCSK9	c.63_65del	NM_174936.4	NP_777596.2:p.(Leu23del)	NC_000001.10:g.55505573_55505575del	(Likely) benign	1 lab	a749aaa971
10:85954516 CDHR1 C>T	10	85954516	85954516	C	T	CDHR1	c.-1C>T	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85954516C>T	(Likely) benign	1 lab	a74a35670d
16:46723598 ORC6 T>C	16	46723598	46723598	T	C	ORC6	n.28T>C	NR_037620.2		NC_000016.9:g.46723598T>C	(Likely) benign	1 lab	a74d52b127
6:152631802 SYNE1 CT>C	6	152631802	152631812	CT	C	SYNE1	c.16896+20del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152631812del	(Likely) benign	1 lab	a74d5a04c2
5:88100461 MEF2C T>TC	5	88100461	88100463	T	TC	MEF2C	c.211dup	NM_001364330.2	NP_001351259.1:p.(Glu71GlyfsTer7)	NC_000005.9:g.88100463dup	(Likely) pathogenic	1 lab	a74e7c839c
10:112266749 DUSP5 C>T	10	112266749	112266749	C	T	DUSP5	c.585C>T	NM_004419.4	NP_004410.3:p.(Ser195=)	NC_000010.10:g.112266749C>T	(Likely) benign	1 lab	a74ed8f2c6
4:77051890 MISSING T>Alt too long to show for this DUP	4	77051890	77110259	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.77051891_77110259dup	VUS	1 lab	a7519a56a6
1:94512552 ABCA4 G>A	1	94512552	94512552	G	A	ABCA4	c.2841C>T	NM_000350.3	NP_000341.2:p.(Asp947=)	NC_000001.10:g.94512552G>A	(Likely) benign	1 lab	a75617f59d
15:65917357 SLC24A1 G>A	15	65917357	65917357	G	A	SLC24A1	c.939G>A	NM_004727.3	NP_004718.1:p.(Leu313=)	NC_000015.9:g.65917357G>A	(Likely) benign	1 lab	a75c3a0cb6
10:48389834 RBP3 G>A	10	48389834	48389834	G	A	RBP3	c.1044C>T	NM_002900.3	NP_002891.1:p.(Pro348=)	NC_000010.10:g.48389834G>A	(Likely) benign	1 lab	a75f2e72d8
22:46763671 CELSR1 A>G	22	46763671	46763671	A	G	CELSR1	c.8034T>C	NM_001378328.1	NP_001365257.1:p.(Asp2678=)	NC_000022.10:g.46763671A>G	(Likely) benign	1 lab	a7617fe039
6:32010456 TNXB G>A	6	32010456	32010456	G	A	TNXB	c.12052+20C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010456G>A	(Likely) benign	1 lab	a76b13bd17
15:58840744 LIPC G>A	15	58840744	58840744	G	A	LIPC	c.1024G>A	NM_000236.3	NP_000227.2:p.(Val342Ile)	NC_000015.9:g.58840744G>A	VUS	1 lab	a76d9cb74e
8:28628397 INTS9 Ref too long to show for this DEL>A	8	28628397	28671090	Ref too long to show for this DEL	A	INTS9	c.528_1662+101del	NM_018250.4	NP_060720.2:p.?	NC_000008.10:g.28628398_28671090del	VUS	1 lab	a7708442eb
19:11240277 LDLR C>T	19	11240277	11240277	C	T	LDLR	c.2478C>T	NM_000527.5	NP_000518.1:p.(Pro826=)	NC_000019.9:g.11240277C>T	(Likely) benign	1 lab	a772820fe2
X:7853284 MISSING A>Alt too long to show for this DUP	X	7853284	7918932	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.7853287_7918932dup	VUS	1 lab	a77b9e90bf
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	a77c5092b4
8:133898949 TG C>T	8	133898949	133898949	C	T	TG	c.1332C>T	NM_003235.5	NP_003226.4:p.(Ile444=)	NC_000008.10:g.133898949C>T	(Likely) benign	1 lab	a781f75d3a
16:68835653 CDH1 G>A	16	68835653	68835653	G	A	CDH1	c.244G>A	NM_004360.5	NP_004351.1:p.(Val82Met)	NC_000016.9:g.68835653G>A	VUS	1 lab	a78412cca5
11:62159627 ASRGL1 C>T	11	62159627	62159627	C	T	ASRGL1	c.798C>T	NM_001083926.2	NP_001077395.1:p.(Ile266=)	NC_000011.9:g.62159627C>T	(Likely) benign	1 lab	a786bdf1b5
1:156104629 LMNA C>T	1	156104629	156104629	C	T	LMNA	c.673C>T	NM_170707.4	NP_733821.1:p.(Arg225Ter)	NC_000001.10:g.156104629C>T	(Likely) pathogenic	1 lab	a78d4f0165
5:127626135 FBN2 T>C	5	127626135	127626135	T	C	FBN2	c.6445+289A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127626135T>C	(Likely) benign	1 lab	a78d5cebd8
12:117908997 KSR2 G>A	12	117908997	117908997	G	A	KSR2	c.2711C>T	NM_173598.6	NP_775869.4:p.(Ser904Leu)	NC_000012.11:g.117908997G>A	(Likely) benign	1 lab	a78da873b8
2:179402106 TTN A>G	2	179402106	179402106	A	G	TTN	c.99828T>C	NM_001267550.2	NP_001254479.2:p.(Phe33276=)	NC_000002.11:g.179402106A>G	(Likely) benign	1 lab	a78f4cffb5
3:195511774 MUC4 A>G	3	195511774	195511774	A	G	MUC4	c.6677T>C	NM_018406.7	NP_060876.5:p.(Leu2226Pro)	NC_000003.11:g.195511774A>G	(Likely) benign	1 lab	a793d466e1
1:185959585 HMCN1 C>CG	1	185959585	185959586	C	CG	HMCN1	c.3377+10_3377+11insG	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185959585_185959586insG	(Likely) benign	1 lab	a794dc609c
1:201036110 CACNA1S G>A	1	201036110	201036110	G	A	CACNA1S	c.2562C>T	NM_000069.3	NP_000060.2:p.(Tyr854=)	NC_000001.10:g.201036110G>A	(Likely) benign	1 lab	a799223284
3:38628929 SCN5A G>A	3	38628929	38628929	G	A	SCN5A	c.2398C>T	NM_198056.3	NP_932173.1:p.(Arg800Cys)	NC_000003.11:g.38628929G>A	VUS	1 lab	a79f81b51f
15:50317872 ATP8B4 Ref too long to show for this DEL>T	15	50317872	50369375	Ref too long to show for this DEL	T	ATP8B4	c.29-2992_362+13092del	NM_024837.4	NP_079113.2:p.?	NC_000015.9:g.50317874_50369375del	VUS	1 lab	a7a0701525
7:128483557 FLNC G>A	7	128483557	128483557	G	A	FLNC	c.2737G>A	NM_001458.5	NP_001449.3:p.(Glu913Lys)	NC_000007.13:g.128483557G>A	VUS	1 lab	a7a154ae79
9:35906583 HRCT1 T>TCCACCA	9	35906583	35906600	T	TCCACCA	HRCT1	c.311_316dup	NM_001039792.2	NP_001034881.1:p.(His104_His105dup)	NC_000009.11:g.35906595_35906600dup	(Likely) benign	1 lab	a7a1d33aeb
16:918776 LMF1 CGG>C	16	918776	918788	CGG	C	LMF1	c.1130+166_1130+167del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918787_918788del	(Likely) benign	1 lab	a7a5d33329
12:125263082 SCARB1 C>A	12	125263082	125263082	C	A	SCARB1	c.1452G>T	NM_001082959.2	NP_001076428.1:p.(Arg484=)	NC_000012.11:g.125263082C>A	VUS	1 lab	a7a5f0485d
2:27601437 ZNF513 G>A	2	27601437	27601437	G	A	ZNF513	c.696C>T	NM_144631.6	NP_653232.3:p.(Pro232=)	NC_000002.11:g.27601437G>A	(Likely) benign	1 lab	a7a6005669
19:12774595 MAN2B1 G>A	19	12774595	12774595	G	A	MAN2B1	c.685C>T	NM_000528.4	NP_000519.2:p.(Arg229Trp)	NC_000019.9:g.12774595G>A	(Likely) pathogenic	1 lab	a7aac89811
12:50501452 GPD1 G>A	12	50501452	50501452	G	A	GPD1	c.715G>A	NM_005276.4	NP_005267.2:p.(Ala239Thr)	NC_000012.11:g.50501452G>A	VUS	1 lab	a7ab058273
3:48616785 COL7A1 C>T	3	48616785	48616785	C	T	COL7A1	c.5307+17G>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48616785C>T	(Likely) benign	1 lab	a7aba34aec
8:110131552 TRHR C>T	8	110131552	110131552	C	T	TRHR	c.1065C>T	NM_003301.7	NP_003292.1:p.(Ser355=)	NC_000008.10:g.110131552C>T	(Likely) benign	1 lab	a7b35036a5
16:81399028 GAN C>T	16	81399028	81399028	C	T	GAN	c.1447C>T	NM_022041.4	NP_071324.1:p.(Gln483Ter)	NC_000016.9:g.81399028C>T	(Likely) pathogenic	1 lab	a7bbbfe2cb
17:45234671 CDC27 T>TGCG	17	45234671	45234673	T	TGCG	CDC27	c.554_555insCGC	NM_001114091.4	NP_001107563.1:p.(Thr185_Thr186insAla)	NC_000017.10:g.45234672_45234673insCGG	(Likely) benign	1 lab	a7bdb8491f
1:186034565 HMCN1 G>A	1	186034565	186034565	G	A	HMCN1	c.7705+4G>A	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186034565G>A	(Likely) benign	1 lab	a7befe4e92
7:100014711 ZCWPW1 T>C	7	100014711	100014711	T	C	ZCWPW1	c.457A>G	NM_001386017.1	NP_001372946.1:p.(Thr153Ala)	NC_000007.13:g.100014711T>C	(Likely) benign	1 lab	a7bf91318c
5:14492853 TRIO G>A	5	14492853	14492853	G	A	TRIO	c.7810G>A	NM_007118.4	NP_009049.2:p.(Gly2604Ser)	NC_000005.9:g.14492853G>A	VUS	1 lab	a7c027107b
13:32953624 BRCA2 A>G	13	32953624	32953624	A	G	BRCA2	c.8925A>G	NM_000059.4	NP_000050.3:p.(Val2975=)	NC_000013.10:g.32953624A>G	(Likely) benign	1 lab	a7c0adbc50
2:179615068 TTN T>A	2	179615068	179615068	T	A	TTN	c.12059A>T	NM_133379.5	NP_596870.2:p.(Asn4020Ile)	NC_000002.11:g.179615068T>A	VUS	1 lab	a7c42749fd
9:139413433 NOTCH1 C>T	9	139413433	139413433	C	T	NOTCH1	c.866-157G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139413433C>T	(Likely) benign	1 lab	a7c6aa9d6a
5:177422839 PROP1 C>T	5	177422839	177422839	C	T	PROP1	c.96G>A	NM_006261.5	NP_006252.4:p.(Pro32=)	NC_000005.9:g.177422839C>T	(Likely) benign	1 lab	a7c6b144d4
16:1003964 LMF1 GCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACA>G	16	1003964	1004061	GCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACA	G	LMF1	c.-52+296_-52+392del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003965_1004061del	(Likely) benign	1 lab	a7c99897aa
X:100513475 DRP2 C>T	X	100513475	100513475	C	T	DRP2	c.2568C>T	NM_001939.3	NP_001930.2:p.(Leu856=)	NC_000023.10:g.100513475C>T	(Likely) benign	1 lab	a7cad940b5
9:34637329 SIGMAR1 C>T	9	34637329	34637329	C	T	SIGMAR1	c.240G>A	NM_001282208.2	NP_001269137.1:p.(Gln80=)	NC_000009.11:g.34637329C>T	(Likely) benign	1 lab	a7ea75af05
9:130428515 STXBP1 A>G	9	130428515	130428515	A	G	STXBP1	c.734A>G	NM_003165.6	NP_003156.1:p.(His245Arg)	NC_000009.11:g.130428515A>G	(Likely) pathogenic	1 lab	a7cb3793bd
12:21370063 SLCO1B1 A>G	12	21370063	21370063	A	G	SLCO1B1	c.1508A>G	NM_006446.5	NP_006437.3:p.(Asn503Ser)	NC_000012.11:g.21370063A>G	(Likely) benign	1 lab	a7cd3f55f4
1:5967251 NPHP4 C>T	1	5967251	5967251	C	T	NPHP4	c.1535G>A	NM_015102.5	NP_055917.1:p.(Arg512Gln)	NC_000001.10:g.5967251C>T	(Likely) benign	1 lab	a7d3dbea3b
X:79936909 BRWD3 G>A	X	79936909	79936909	G	A	BRWD3	c.4585C>T	NM_153252.5	NP_694984.5:p.(Arg1529Ter)	NC_000023.10:g.79936909G>A	(Likely) pathogenic	1 lab	a7d4e09b1c
22:41303527 MISSING T>Alt too long to show for this DUP	22	41303527	41439784	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.41303531_41439784dup	VUS	1 lab	a7d9c3e50d
5:82833374 VCAN G>T	5	82833374	82833374	G	T	VCAN	c.4552G>T	NM_004385.5	NP_004376.2:p.(Gly1518Trp)	NC_000005.9:g.82833374G>T	(Likely) benign	1 lab	a7dc6d72e9
12:124409630 DNAH10 G>T	12	124409630	124409630	G	T	DNAH10	c.11446G>T	NM_207437.3	NP_997320.2:p.(Val3816Phe)	NC_000012.11:g.124409630G>T	(Likely) benign	1 lab	a804a1e7a3
3:46901019 MYL3 C>T	3	46901019	46901019	C	T	MYL3	c.427G>A	NM_000258.3	NP_000249.1:p.(Glu143Lys)	NC_000003.11:g.46901019C>T	VUS	1 lab	a7e6a2b60a
16:57003531 CETP T>C	16	57003531	57003531	T	C	CETP	c.377T>C	NM_000078.3	NP_000069.2:p.(Ile126Thr)	NC_000016.9:g.57003531T>C	VUS	1 lab	a7e89e1712
1:12049384 MFN2 C>T	1	12049384	12049384	C	T	MFN2	c.159C>T	NM_014874.4	NP_055689.1:p.(Ser53=)	NC_000001.10:g.12049384C>T	(Likely) benign	1 lab	a7ea721858
17:41243434 BRCA1 A>G	17	41243434	41243434	A	G	BRCA1	c.4096+18T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41243434A>G	(Likely) benign	1 lab	a7eb26719c
2:24991149 NCOA1 G>A	2	24991149	24991149	G	A	NCOA1	c.4215G>A	NM_003743.5	NP_003734.3:p.(Gly1405=)	NC_000002.11:g.24991149G>A	(Likely) benign	1 lab	a7ecdf4426
2:179452327 TTN T>C	2	179452327	179452327	T	C	TTN	c.56005A>G	NM_133378.4	NP_596869.4:p.(Thr18669Ala)	NC_000002.11:g.179452327T>C	VUS	1 lab	a7f04e39ac
15:48756174 FBN1 A>G	15	48756174	48756174	A	G	FBN1	c.4987T>C	NM_000138.5	NP_000129.3:p.(Cys1663Arg)	NC_000015.9:g.48756174A>G	(Likely) pathogenic	1 lab	a804f0a689
1:236900597 ACTN2 G>GTATGTATATATATATATATATATA	1	236900597	236900598	G	GTATGTATATATATATATATATATA	ACTN2	c.876+83_876+84insTATGTATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATGTATATATATATATATATATA	VUS	1 lab	a7f362e9d7
16:88504350 ZNF469 C>G	16	88504350	88504350	C	G	ZNF469	c.10472C>G	NM_001367624.2	NP_001354553.1:p.(Pro3491Arg)	NC_000016.9:g.88504350C>G	(Likely) benign	1 lab	a7f4f8ca94
1:12065959 MFN2 C>T	1	12065959	12065959	C	T	MFN2	c.1687C>T	NM_014874.4	NP_055689.1:p.(Arg563Cys)	NC_000001.10:g.12065959C>T	VUS	1 lab	a7f734cc90
3:57911625 SLMAP C>T	3	57911625	57911625	C	T	SLMAP	c.2395-1398C>T	NM_001304420.3	NP_001291349.1:p.?	NC_000003.11:g.57911625C>T	(Likely) benign	1 lab	a7f75c0e0e
8:19796652 LPL G>A	8	19796652	19796652	G	A	LPL				NC_000008.10:g.19796652G>A	VUS	1 lab	a7f7cf37ae
2:179408965 TTN G>A	2	179408965	179408965	G	A	TTN	c.95991C>T	NM_001267550.2	NP_001254479.2:p.(Ser31997=)	NC_000002.11:g.179408965G>A	(Likely) benign	1 lab	a7fd08d7c9
9:35059607 VCP A>G	9	35059607	35059607	A	G	VCP	c.1887T>C	NM_007126.5	NP_009057.1:p.(Ile629=)	NC_000009.11:g.35059607A>G	(Likely) benign	1 lab	a7ff338211
2:21249690 APOB A>G	2	21249690	21249690	A	G	APOB	c.2214T>C	NM_000384.3	NP_000375.3:p.(Phe738=)	NC_000002.11:g.21249690A>G	(Likely) benign	1 lab	a8034adb5b
8:59409737 CYP7A1 T>C	8	59409737	59409737	T	C	CYP7A1	c.334A>G	NM_000780.4	NP_000771.2:p.(Arg112Gly)	NC_000008.10:g.59409737T>C	(Likely) benign	1 lab	a803dfcb01
6:32363886 MISSING G>Alt too long to show for this DUP	6	32363886	32435057	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.32363888_32435057dup	VUS	1 lab	a80427d5e5
10:85972841 CDHR1 G>A	10	85972841	85972841	G	A	CDHR1	c.1783-6G>A	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85972841G>A	(Likely) benign	1 lab	a8059a2f4d
2:21256224 APOB G>A	2	21256224	21256224	G	A	APOB	c.1071C>T	NM_000384.3	NP_000375.3:p.(Gly357=)	NC_000002.11:g.21256224G>A	(Likely) benign	1 lab	a805f9940f
10:112541624 RBM20 G>C	10	112541624	112541624	G	C	RBM20	c.1257G>C	NM_001134363.3	NP_001127835.2:p.(Lys419Asn)	NC_000010.10:g.112541624G>C	VUS	1 lab	a80847019b
11:47361850 MYBPC3 A>G	11	47361850	47361850	A	G	MYBPC3	c.1928-509T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361850A>G	(Likely) benign	1 lab	a80d73ee78
15:42681290 CAPN3 T>C	15	42681290	42681290	T	C	CAPN3	c.797T>C	NM_000070.3	NP_000061.1:p.(Ile266Thr)	NC_000015.9:g.42681290T>C	VUS	1 lab	a81227e6b1
10:71158513 HK1 C>T	10	71158513	71158513	C	T	HK1	c.2502C>T	NM_033500.2	NP_277035.2:p.(Arg834=)	NC_000010.10:g.71158513C>T	(Likely) benign	1 lab	a817e9d42e
7:77173931 MISSING A>Alt too long to show for this DUP	7	77173931	77408251	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.77173932_77408251dup	(Likely) pathogenic	1 lab	a81d62003d
16:2133769 TSC2 C>T	16	2133769	2133769	C	T	TSC2	c.3957C>T	NM_000548.5	NP_000539.2:p.(Asp1319=)	NC_000016.9:g.2133769C>T	(Likely) benign	1 lab	a820bcdac0
2:189867539 COL3A1 C>A	2	189867539	189867539	C	A	COL3A1	c.2446-142C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867539C>A	(Likely) benign	1 lab	a8279fefb2
12:122248223 SETD1B G>A	12	122248223	122248223	G	A	SETD1B	c.1372G>A	NM_001353345.2	NP_001340274.1:p.(Asp458Asn)	NC_000012.11:g.122248223G>A	(Likely) benign	1 lab	a827ae5a96
5:33963881 SLC45A2 T>C	5	33963881	33963881	T	C	SLC45A2	c.803A>G	NM_001012509.4	NP_001012527.2:p.(Tyr268Cys)	NC_000005.9:g.33963881T>C	VUS	1 lab	a82b2ae9d1
2:15564612 NBAS C>T	2	15564612	15564612	C	T	NBAS	c.2424-20G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15564612C>T	(Likely) benign	1 lab	a82c494fda
1:237802457 RYR2 T>C	1	237802457	237802457	T	C	RYR2	c.7071T>C	NM_001035.3	NP_001026.2:p.(Pro2357=)	NC_000001.10:g.237802457T>C	(Likely) benign	1 lab	a82cc14de3
7:151875100 KMT2C T>TTAAAAAAAA	7	151875100	151875101	T	TTAAAAAAAA	KMT2C	c.7443-6_7443-5insTTTTTTTTA	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875100_151875101insTAAAAAAAA	(Likely) benign	1 lab	a82e06a689
15:63354451 TPM1 A>G	15	63354451	63354451	A	G	TPM1	c.677A>G	NM_001018004.2	NP_001018004.1:p.(Lys226Arg)	NC_000015.9:g.63354451A>G	VUS	1 lab	a82f578e4f
2:128526579 WDR33 T>TTAAA	2	128526579	128526613	T	TTAAA	WDR33	c.205-8_205-5dup	NM_018383.5	NP_060853.3:p.?	NC_000002.11:g.128526610_128526613dup	(Likely) benign	1 lab	a8340b15c1
1:94486889 ABCA4 C>A	1	94486889	94486889	C	A	ABCA4	c.4925G>T	NM_000350.3	NP_000341.2:p.(Ser1642Ile)	NC_000001.10:g.94486889C>A	(Likely) benign	1 lab	a8371cfcfe
15:76726556 SCAPER A>G	15	76726556	76726556	A	G	SCAPER	c.3192T>C	NM_001353009.2	NP_001339938.1:p.(Ala1064=)	NC_000015.9:g.76726556A>G	(Likely) benign	1 lab	a83adb4ad2
12:2791753 CACNA1C CAGG>C	12	2791753	2791761	CAGG	C	CACNA1C	c.5488_5490del	NM_001167623.2	NP_001161095.1:p.(Glu1830del)	NC_000012.11:g.2791759_2791761del	VUS	1 lab	a83b9ae2fd
4:100530093 MTTP C>T	4	100530093	100530093	C	T	MTTP	c.1728C>T	NM_000253.4	NP_000244.2:p.(Leu576=)	NC_000004.11:g.100530093C>T	(Likely) benign	1 lab	a83d31a6e5
14:64491695 SYNE2 T>C	14	64491695	64491695	T	C	SYNE2	c.5906T>C	NM_182914.3	NP_878918.2:p.(Met1969Thr)	NC_000014.8:g.64491695T>C	(Likely) benign	1 lab	a83dbc9934
16:1774672 MAPK8IP3 G>A	16	1774672	1774672	G	A	MAPK8IP3	c.433G>A	NM_001318852.2	NP_001305781.1:p.(Asp145Asn)	NC_000016.9:g.1774672G>A	VUS	1 lab	a83f791e74
11:47353664 MYBPC3 A>C	11	47353664	47353664	A	C	MYBPC3	c.3773T>G	NM_000256.3	NP_000247.2:p.(Leu1258Ter)	NC_000011.9:g.47353664A>C	(Likely) pathogenic	1 lab	a84136f7d7
3:58080567 FLNB C>T	3	58080567	58080567	C	T	FLNB	c.792C>T	NM_001164317.2	NP_001157789.1:p.(Ile264=)	NC_000003.11:g.58080567C>T	(Likely) benign	1 lab	a842398f7d
15:85410632 ALPK3 G>A	15	85410632	85410632	G	A	ALPK3	c.4772+36G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410632G>A	(Likely) benign	1 lab	a8471d5040
6:26104273 H4C3 C>T	6	26104273	26104273	C	T	H4C3	c.98C>T	NM_003542.4	NP_003533.1:p.(Pro33Leu)	NC_000006.11:g.26104273C>T	(Likely) pathogenic	1 lab	a847c3b1b9
22:50664471 TUBGCP6 C>T	22	50664471	50664471	C	T	TUBGCP6	c.1833+8G>A	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50664471C>T	(Likely) benign	1 lab	a84ad5eddc
3:123458786 MYLK C>G	3	123458786	123458786	C	G	MYLK	c.422+14G>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123458786C>G	(Likely) benign	1 lab	a851b64a97
1:74835131 TNNI3K T>C	1	74835131	74835131	T	C	TNNI3K	c.1529T>C	NM_015978.3	NP_057062.1:p.(Val510Ala)	NC_000001.10:g.74835131T>C	VUS	1 lab	a8541d3c8b
1:55529176 PCSK9 C>A	1	55529176	55529176	C	A	PCSK9	c.1998C>A	NM_174936.4	NP_777596.2:p.(Ser666Arg)	NC_000001.10:g.55529176C>A	VUS	1 lab	a85652c234
2:179443708 TTN CT>C	2	179443708	179443710	CT	C	TTN	c.68048del	NM_001267550.2	NP_001254479.2:p.(Lys22683ArgfsTer5)	NC_000002.11:g.179443710del	(Likely) pathogenic	1 lab	a856b853c8
2:26950905 KCNK3 G>T	2	26950905	26950905	G	T	KCNK3	c.654G>T	NM_002246.3	NP_002237.1:p.(Pro218=)	NC_000002.11:g.26950905G>T	(Likely) benign	1 lab	a8583e289a
2:25384408 POMC G>A	2	25384408	25384408	G	A	POMC	c.346C>T	NM_001035256.3	NP_001030333.1:p.(Leu116=)	NC_000002.11:g.25384408G>A	(Likely) benign	1 lab	a8585e2b32
15:28116316 OCA2 G>A	15	28116316	28116316	G	A	OCA2	c.2228C>T	NM_000275.3	NP_000266.2:p.(Pro743Leu)	NC_000015.9:g.28116316G>A	(Likely) pathogenic	1 lab	a858c501be
2:145157327 ZEB2 A>AT	2	145157327	145157333	A	AT	ZEB2	c.1426dup	NM_014795.4	NP_055610.1:p.(Met476AsnfsTer6)	NC_000002.11:g.145157333dup	(Likely) pathogenic	1 lab	a85c7963ba
15:76697027 SCAPER A>G	15	76697027	76697027	A	G	SCAPER	c.3330-7T>C	NM_001353009.2	NP_001339938.1:p.?	NC_000015.9:g.76697027A>G	(Likely) benign	1 lab	a85ca4c388
16:46708574 VPS35 TA>T	16	46708574	46708588	TA	T	VPS35	c.915-3del	NM_018206.6	NP_060676.2:p.?	NC_000016.9:g.46708588del	(Likely) benign	1 lab	a85f6716e5
12:30792655 IPO8 G>A	12	30792655	30792655	G	A	IPO8	c.2283C>T	NM_006390.4	NP_006381.2:p.(Phe761=)	NC_000012.11:g.30792655G>A	(Likely) benign	1 lab	a861e0181b
10:121431846 BAG3 TG>T	10	121431846	121431849	TG	T	BAG3	c.590del	NM_004281.4	NP_004272.2:p.(Gly197AlafsTer14)	NC_000010.10:g.121431849del	(Likely) pathogenic	1 lab	a86304b427
8:19813405 LPL G>A	8	19813405	19813405	G	A	LPL	c.829G>A	NM_000237.3	NP_000228.1:p.(Asp277Asn)	NC_000008.10:g.19813405G>A	(Likely) pathogenic	1 lab	a866a397d7
22:40676094 TNRC6B C>T	22	40676094	40676094	C	T	TNRC6B	c.3358C>T	NM_001162501.2	NP_001155973.1:p.(Pro1120Ser)	NC_000022.10:g.40676094C>T	VUS	1 lab	a8674a56ed
2:112767592 MERTK C>T	2	112767592	112767592	C	T	MERTK	c.2028C>T	NM_006343.3	NP_006334.2:p.(Tyr676=)	NC_000002.11:g.112767592C>T	(Likely) benign	1 lab	a869cd13d5
19:58352507 ZNF587B G>A	19	58352507	58352507	G	A	ZNF587B	c.465G>A	NM_001204818.2	NP_001191747.1:p.(Ala155=)	NC_000019.9:g.58352507G>A	(Likely) benign	1 lab	a86d69b890
1:220366582 RAB3GAP2 C>A	1	220366582	220366582	C	A	RAB3GAP2	c.1270G>T	NM_012414.4	NP_036546.2:p.(Gly424Trp)	NC_000001.10:g.220366582C>A	(Likely) pathogenic	1 lab	a8705d41fb
1:109479829 CLCC1 C>T	1	109479829	109479829	C	T	CLCC1	c.1253G>A	NM_001048210.3	NP_001041675.1:p.(Gly418Asp)	NC_000001.10:g.109479829C>T	(Likely) benign	1 lab	a870a84ddf
3:38603865 SCN5A C>T	3	38603865	38603865	C	T	SCN5A	c.3960+41G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38603865C>T	(Likely) benign	1 lab	a8711a66d4
12:20890218 SLCO1C1 C>A	12	20890218	20890218	C	A	SLCO1C1	c.1548+12C>A	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20890218C>A	(Likely) benign	1 lab	a871f71cd9
9:107553185 ABCA1 A>G	9	107553185	107553185	A	G	ABCA1	c.5927+18T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107553185A>G	(Likely) benign	1 lab	a87929cc1d
11:116701153 APOC3 T>G	11	116701153	116701153	T	G	APOC3	c.-13-133T>G	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701153T>G	(Likely) benign	1 lab	a879c6dd8f
9:107554534 ABCA1 T>C	9	107554534	107554534	T	C	ABCA1	c.5758-255A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554534T>C	(Likely) benign	1 lab	a879dbdfe4
19:11233924 LDLR C>T	19	11233924	11233924	C	T	LDLR	c.2215C>T	NM_000527.5	NP_000518.1:p.(Gln739Ter)	NC_000019.9:g.11233924C>T	(Likely) pathogenic	1 lab	a87b7a4a93
15:72641441 HEXA TCTC>T	15	72641441	72641448	TCTC	T	HEXA	c.962_964del	NM_000520.6	NP_000511.2:p.(Gly321del)	NC_000015.9:g.72641446_72641448del	(Likely) pathogenic	1 lab	a87c4bacde
9:137593276 COL5A1 C>T	9	137593276	137593276	C	T	COL5A1	c.654+97C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593276C>T	(Likely) benign	1 lab	a87ce6c322
11:118348850 KMT2A G>A	11	118348850	118348850	G	A	KMT2A	c.3503G>A	NM_001197104.2	NP_001184033.1:p.(Gly1168Asp)	NC_000011.9:g.118348850G>A	(Likely) pathogenic	1 lab	a87ff7ff3e
7:74185316 MISSING Ref too long to show for this DEL>C	7	74185316	74245599	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.74185317_74245599del	VUS	1 lab	a8820d3a74
14:88459344 GALC G>C	14	88459344	88459344	G	C	GALC	c.165C>G	NM_000153.4	NP_000144.2:p.(Phe55Leu)	NC_000014.8:g.88459344G>C	VUS	1 lab	a8845e298e
18:58039274 MC4R G>T	18	58039274	58039274	G	T	MC4R	c.309C>A	NM_005912.3	NP_005903.2:p.(Val103=)	NC_000018.9:g.58039274G>T	(Likely) benign	1 lab	a887c4f463
2:50619428 MISSING Ref too long to show for this DEL>C	2	50619428	51363342	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.50619429_51363342del	(Likely) pathogenic	1 lab	a8889978ed
10:91007136 LIPA CAAAAAAAA>C	10	91007136	91007168	CAAAAAAAA	C	LIPA	c.111+151_111+158del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007161_91007168del	(Likely) benign	1 lab	a888d091f3
16:1611967 IFT140 G>A	16	1611967	1611967	G	A	IFT140	c.2199+19C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1611967G>A	(Likely) benign	1 lab	a888f3d13b
6:1611641 FOXC1 C>T	6	1611641	1611641	C	T	FOXC1	c.961C>T	NM_001453.3	NP_001444.2:p.(Pro321Ser)	NC_000006.11:g.1611641C>T	VUS	1 lab	a88dc94bd6
8:100847978 VPS13B A>G	8	100847978	100847978	A	G	VPS13B	c.10017+12A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100847978A>G	(Likely) benign	1 lab	a89d62e34e
8:19810916 LPL A>G	8	19810916	19810916	A	G	LPL	c.525A>G	NM_000237.3	NP_000228.1:p.(Lys175=)	NC_000008.10:g.19810916A>G	VUS	1 lab	a891ea9ab8
3:49570484 DAG1 T>TG	3	49570484	49570487	T	TG	DAG1	c.2543dup	NM_001165928.3	NP_001159400.2:p.(Glu849ArgfsTer8)	NC_000003.11:g.49570487dup	(Likely) pathogenic	1 lab	a893ddf75a
4:166300379 CPE C>A	4	166300379	166300379	C	A	CPE	c.6C>A	NM_001873.4	NP_001864.1:p.(Ala2=)	NC_000004.11:g.166300379C>A	(Likely) benign	1 lab	a8a0c1f918
5:79950727 MSH3 G>GCAGCGCCCCCAGCGCCCCCAGCGCCCC	5	79950727	79950750	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCC	MSH3	c.203_204insGCCCCCAGCGCCCCCAGCGCCCCCAGC	NM_002439.5	NP_002430.3:p.(Pro69_Ala70insProAlaProProAlaProProAlaPro)	NC_000005.9:g.79950749_79950750insGCCCCCAGCGCCCCCAGCGCCCCCAGC	(Likely) benign	1 lab	a8954e8945
16:88802830 PIEZO1 A>G	16	88802830	88802830	A	G	PIEZO1	c.1297-14T>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88802830A>G	(Likely) benign	1 lab	a896bdf871
14:20010207 POTEM C>T	14	20010207	20010207	C	T	POTEM	c.951G>A	NM_001145442.1	NP_001138914.1:p.(Ser317=)	NC_000014.8:g.20010207C>T	(Likely) benign	1 lab	a8990c6f63
12:50501593 GPD1 G>A	12	50501593	50501593	G	A	GPD1	c.846+10G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501593G>A	(Likely) benign	1 lab	a89919812c
10:75834639 VCL A>T	10	75834639	75834639	A	T	VCL	c.761A>T	NM_014000.3	NP_054706.1:p.(Asp254Val)	NC_000010.10:g.75834639A>T	VUS	1 lab	a89af3577d
2:62069492 FAM161A C>T	2	62069492	62069492	C	T	FAM161A	c.187G>A	NM_001201543.2	NP_001188472.1:p.(Asp63Asn)	NC_000002.11:g.62069492C>T	VUS	1 lab	a89df51449
2:179596968 TTN T>C	2	179596968	179596968	T	C	TTN	c.12996A>G	NM_133378.4	NP_596869.4:p.(Thr4332=)	NC_000002.11:g.179596968T>C	(Likely) benign	1 lab	a89e42ee10
15:73615968 HCN4 C>T	15	73615968	73615968	C	T	HCN4	c.2466G>A	NM_005477.3	NP_005468.1:p.(Thr822=)	NC_000015.9:g.73615968C>T	(Likely) benign	1 lab	a8a1b821d8
18:44555665 KATNAL2 G>A	18	44555665	44555665	G	A	KATNAL2	c.52-17163G>A	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44555665G>A	(Likely) benign	1 lab	a8a257de5d
6:15593319 DTNBP1 G>GAA	6	15593319	15593333	G	GAA	DTNBP1	c.489-9_489-8dup	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593332_15593333dup	(Likely) benign	1 lab	a8a31c73c3
18:47101797 LIPG G>A	18	47101797	47101797	G	A	LIPG	c.630G>A	NM_006033.4	NP_006024.1:p.(Pro210=)	NC_000018.9:g.47101797G>A	(Likely) benign	1 lab	a8a373b08c
12:124383345 DNAH10 C>T	12	124383345	124383345	C	T	DNAH10	c.9270C>T	NM_207437.3	NP_997320.2:p.(Ala3090=)	NC_000012.11:g.124383345C>T	(Likely) benign	1 lab	a8a3ddd8b8
7:94029638 COL1A2 T>C	7	94029638	94029638	T	C	COL1A2	c.225+38T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94029638T>C	(Likely) benign	1 lab	a8a6cc16d9
19:49686058 TRPM4 C>T	19	49686058	49686058	C	T	TRPM4	c.1487C>T	NM_017636.4	NP_060106.2:p.(Ala496Val)	NC_000019.9:g.49686058C>T	(Likely) benign	1 lab	a8a8b3e1b5
1:213277818 RPS6KC1 C>A	1	213277818	213277818	C	A	RPS6KC1	c.285C>A	NM_012424.6	NP_036556.2:p.(Ile95=)	NC_000001.10:g.213277818C>A	(Likely) benign	1 lab	a8ab839cac
14:76431894 TGFB3 C>A	14	76431894	76431894	C	A	TGFB3	c.754+37G>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76431894C>A	(Likely) benign	1 lab	a8ac99407c
3:49692704 BSN C>T	3	49692704	49692704	C	T	BSN	c.5715C>T	NM_003458.4	NP_003449.2:p.(Tyr1905=)	NC_000003.11:g.49692704C>T	(Likely) benign	1 lab	a8b34feea9
15:23214982 MISSING Ref too long to show for this DEL>C	15	23214982	23290819	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.23214983_23290819del	(Likely) pathogenic	1 lab	a8bc912674
22:18893886 MISSING Ref too long to show for this DEL>C	22	18893886	18923801	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.18893887_18923801del	(Likely) pathogenic	1 lab	a8c0bf3e6a
8:19819536 LPL T>G	8	19819536	19819536	T	G	LPL	c.1323-90T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819536T>G	(Likely) benign	1 lab	a8c24b542c
19:52147273 SIGLEC14 G>A	19	52147273	52147273	G	A	SIGLEC14	c.771C>T	NM_001098612.2	NP_001092082.1:p.(Ser257=)	NC_000019.9:g.52147273G>A	(Likely) benign	1 lab	a8c7fc4ae7
6:135732468 AHI1 TGC>T	6	135732468	135732470	TGC	T	AHI1	c.2961+16_2961+17del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135732469_135732470del	(Likely) benign	1 lab	a8c9ed20dc
8:19817279 LPL G>C	8	19817279	19817279	G	C	LPL	c.1139+388G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817279G>C	(Likely) benign	1 lab	a8cb6a3ec3
17:36483548 GPR179 G>A	17	36483548	36483548	G	A	GPR179	c.5904C>T	NM_001004334.4	NP_001004334.3:p.(Ser1968=)	NC_000017.10:g.36483548G>A	(Likely) benign	1 lab	a8cbbcc0b2
2:44072235 ABCG8 GTGTA>G	2	44072235	44072240	GTGTA	G	ABCG8	c.165+490_165+493del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072237_44072240del	(Likely) benign	1 lab	a8d1a82f81
19:7619450 PNPLA6 G>A	19	7619450	7619450	G	A	PNPLA6	c.2505G>A	NM_001166111.2	NP_001159583.1:p.(Glu835=)	NC_000019.9:g.7619450G>A	(Likely) benign	1 lab	a8d4b520af
16:1004389 LMF1 G>A	16	1004389	1004389	G	A	LMF1	c.144C>T	NM_001352019.2	NP_001338948.1:p.(Leu48=)	NC_000016.9:g.1004389G>A	(Likely) benign	1 lab	a8d4d80f2d
20:57415455 GNAS C>T	20	57415455	57415455	C	T	GNAS	c.294C>T	NM_016592.5	NP_057676.1:p.(Pro98=)	NC_000020.10:g.57415455C>T	(Likely) benign	1 lab	a8d586e6e1
4:55976883 KDR C>T	4	55976883	55976883	C	T	KDR	c.1029G>A	NM_002253.3	NP_002244.1:p.(Thr343=)	NC_000004.11:g.55976883C>T	(Likely) benign	1 lab	a8d81847b8
15:85401221 ALPK3 C>T	15	85401221	85401221	C	T	ALPK3	c.3252C>T	NM_020778.5	NP_065829.4:p.(Ala1084=)	NC_000015.9:g.85401221C>T	(Likely) benign	1 lab	a8d9a78dcb
18:28666575 DSC2 G>A	18	28666575	28666575	G	A	DSC2	c.906C>T	NM_004949.5	NP_004940.1:p.(Gly302=)	NC_000018.9:g.28666575G>A	VUS	1 lab	a8da7307fe
5:148388530 SH3TC2 G>A	5	148388530	148388530	G	A	SH3TC2	c.3362C>T	NM_024577.4	NP_078853.2:p.(Ala1121Val)	NC_000005.9:g.148388530G>A	(Likely) benign	1 lab	a8dbf78b83
2:179421655 TTN C>T	2	179421655	179421655	C	T	TTN	c.88226G>A	NM_001267550.2	NP_001254479.2:p.(Arg29409His)	NC_000002.11:g.179421655C>T	VUS	1 lab	a8de6296ce
7:128482767 FLNC A>G	7	128482767	128482767	A	G	FLNC	c.2389+15A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482767A>G	(Likely) benign	1 lab	a8de9fc996
19:11224084 LDLR T>G	19	11224084	11224084	T	G	LDLR	c.1317T>G	NM_000527.5	NP_000518.1:p.(Asn439Lys)	NC_000019.9:g.11224084T>G	VUS	1 lab	a8dfe8614c
8:19810948 LPL C>T	8	19810948	19810948	C	T	LPL	c.541+16C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810948C>T	(Likely) benign	1 lab	a8dff51143
14:23887523 MYH7 G>A	14	23887523	23887523	G	A	MYH7	c.4065C>T	NM_000257.4	NP_000248.2:p.(Ala1355=)	NC_000014.8:g.23887523G>A	(Likely) benign	1 lab	a8dff570c9
18:58038681 MC4R A>G	18	58038681	58038681	A	G	MC4R	c.902T>C	NM_005912.3	NP_005903.2:p.(Ile301Thr)	NC_000018.9:g.58038681A>G	(Likely) pathogenic	1 lab	a8e0ab0db6
22:21091799 MISSING Ref too long to show for this DEL>A	22	21091799	21800472	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21091801_21800472del	(Likely) pathogenic	1 lab	a8e2beaf6e
16:1573711 IFT140 C>T	16	1573711	1573711	C	T	IFT140	c.3271-10G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1573711C>T	VUS	1 lab	a8e46723b0
2:212495335 ERBB4 A>AG	2	212495335	212495336	A	AG	ERBB4	c.1947-17dup	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212495336dup	(Likely) benign	1 lab	a8e59658b7
9:107624551 ABCA1 ATT>A	9	107624551	107624564	ATT	A	ABCA1	c.422-472_422-471del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624563_107624564del	(Likely) benign	1 lab	a8eab382f5
10:71151885 HK1 C>T	10	71151885	71151885	C	T	HK1	c.2004C>T	NM_033500.2	NP_277035.2:p.(Thr668=)	NC_000010.10:g.71151885C>T	(Likely) benign	1 lab	a8eab5a914
18:34229340 FHOD3 G>A	18	34229340	34229340	G	A	FHOD3	c.1258G>A	NM_001281740.3	NP_001268669.1:p.(Asp420Asn)	NC_000018.9:g.34229340G>A	VUS	1 lab	a8eba0c6eb
2:179391806 TTN G>T	2	179391806	179391806	G	T	TTN	c.100205C>A	NM_133378.4	NP_596869.4:p.(Thr33402Asn)	NC_000002.11:g.179391806G>T	VUS	1 lab	a8ec8d6041
15:58840099 LIPC G>A	15	58840099	58840099	G	A	LIPC	c.809-430G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840099G>A	(Likely) benign	1 lab	a8ee111fc4
15:85403102 ALPK3 C>T	15	85403102	85403102	C	T	ALPK3	c.4061C>T	NM_020778.5	NP_065829.4:p.(Ser1354Leu)	NC_000015.9:g.85403102C>T	VUS	1 lab	a8f2376e55
8:21754683 MISSING C>Alt too long to show for this DUP	8	21754683	21896109	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.21754684_21896109dup	VUS	1 lab	a8f42bcbd4
20:49508538 ADNP T>TA	20	49508538	49508539	T	TA	ADNP	c.2712dup	NM_001282531.3	NP_001269460.1:p.(Asn905Ter)	NC_000020.10:g.49508539dup	VUS	1 lab	a8f4cdde84
9:137710741 COL5A1 C>T	9	137710741	137710741	C	T	COL5A1	c.4386C>T	NM_000093.5	NP_000084.3:p.(Gly1462=)	NC_000009.11:g.137710741C>T	(Likely) benign	1 lab	a8f8f7e7ab
18:58038831 MC4R ATC>A	18	58038831	58038833	ATC	A	MC4R	c.750_751del	NM_005912.3	NP_005903.2:p.(Ile251TrpfsTer34)	NC_000018.9:g.58038832_58038833del	(Likely) pathogenic	1 lab	a8fb3a2af4
6:31238931 HLA-C G>GTC	6	31238931	31238932	G	GTC	HLA-C	c.537_538insGA	NM_002117.6	NP_002108.4:p.(Leu180AspfsTer2)	NC_000006.11:g.31238931_31238932insTC	(Likely) benign	1 lab	a8fc776d96
2:112777090 MERTK G>A	2	112777090	112777090	G	A	MERTK	c.2180G>A	NM_006343.3	NP_006334.2:p.(Arg727Gln)	NC_000002.11:g.112777090G>A	VUS	1 lab	a8fd5aad2d
22:21465661 MISSING Ref too long to show for this DEL>A	22	21465661	23652512	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21465662_23652512del	(Likely) pathogenic	1 lab	a8fed10932
9:107583702 ABCA1 G>A	9	107583702	107583702	G	A	ABCA1	c.2914C>T	NM_005502.4	NP_005493.2:p.(Arg972Trp)	NC_000009.11:g.107583702G>A	VUS	1 lab	a8ff6bc67d
2:21233192 APOB T>A	2	21233192	21233192	T	A	APOB	c.6548A>T	NM_000384.3	NP_000375.3:p.(Gln2183Leu)	NC_000002.11:g.21233192T>A	(Likely) benign	1 lab	a9018ee129
7:91736603 AKAP9 T>G	7	91736603	91736603	T	G	AKAP9	c.11417-4T>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91736603T>G	(Likely) benign	1 lab	a902233789
18:6958477 LAMA1 C>G	18	6958477	6958477	C	G	LAMA1	c.7963G>C	NM_005559.4	NP_005550.2:p.(Glu2655Gln)	NC_000018.9:g.6958477C>G	(Likely) benign	1 lab	a9026761e9
2:47637299 MSH2 AT>A	2	47637299	47637301	AT	A	MSH2	c.435del	NM_000251.3	NP_000242.1:p.(Ile145MetfsTer29)	NC_000002.11:g.47637301del	(Likely) pathogenic	1 lab	a90362f690
9:35806467 NPR2 GGAAC>G	9	35806467	35806472	GGAAC	G	NPR2	c.2453_2456del	NM_003995.4	NP_003986.2:p.(Glu818AlafsTer28)	NC_000009.11:g.35806469_35806472del	VUS	1 lab	a908cdf72d
11:108168014 ATM A>G	11	108168014	108168014	A	G	ATM	c.4910A>G	NM_000051.4	NP_000042.3:p.(Asp1637Gly)	NC_000011.9:g.108168014A>G	VUS	1 lab	a90b0afcdd
7:30656798 GARS1 A>C	7	30656798	30656798	A	C	GARS1	c.1101A>C	NM_001316772.1	NP_001303701.1:p.(Gly367=)	NC_000007.13:g.30656798A>C	(Likely) benign	1 lab	a90b15540b
6:69525852 MISSING A>Alt too long to show for this DUP	6	69525852	70404535	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.69525853_70404535dup	VUS	1 lab	a90b1f368f
7:72324488 MISSING Ref too long to show for this DEL>G	7	72324488	72351555	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72324489_72351555del	VUS	1 lab	a90cba7db6
20:21126247 KIZ A>G	20	21126247	21126247	A	G	KIZ	c.357A>G	NM_018474.6	NP_060944.3:p.(Lys119=)	NC_000020.10:g.21126247A>G	(Likely) benign	1 lab	a90cc237e4
3:159482711 SCHIP1 G>A	3	159482711	159482711	G	A	SCHIP1	c.543G>A	NM_014575.4	NP_055390.1:p.(Ala181=)	NC_000003.11:g.159482711G>A	(Likely) benign	1 lab	a96600d240
5:33951661 SLC45A2 G>A	5	33951661	33951661	G	A	SLC45A2	c.1154C>T	NM_001012509.4	NP_001012527.2:p.(Ser385Phe)	NC_000005.9:g.33951661G>A	VUS	1 lab	a9108d95e7
15:62217641 VPS13C T>C	15	62217641	62217641	T	C	VPS13C	c.6609+14A>G	NM_001018088.3	NP_001018098.1:p.?	NC_000015.9:g.62217641T>C	(Likely) benign	1 lab	a9127d3058
17:65909296 BPTF A>T	17	65909296	65909296	A	T	BPTF	c.5296A>T	NM_182641.4	NP_872579.2:p.(Thr1766Ser)	NC_000017.10:g.65909296A>T	VUS	1 lab	a915a591e0
1:55524301 PCSK9 G>A	1	55524301	55524301	G	A	PCSK9	c.1484G>A	NM_174936.4	NP_777596.2:p.(Arg495Gln)	NC_000001.10:g.55524301G>A	(Likely) pathogenic	1 lab	a917f67341
10:112581424 RBM20 G>A	10	112581424	112581424	G	A	RBM20	c.3047G>A	NM_001134363.3	NP_001127835.2:p.(Gly1016Asp)	NC_000010.10:g.112581424G>A	VUS	1 lab	a91eef0440
15:89760399 RLBP1 TGAAGCGCAGGAA>T	15	89760399	89760416	TGAAGCGCAGGAA	T	RLBP1	c.286_297del	NM_000326.5	NP_000317.1:p.(Phe96_Phe99del)	NC_000015.9:g.89760405_89760416del	(Likely) pathogenic	1 lab	a922b09581
11:47373521 MYBPC3 C>T	11	47373521	47373521	C	T	MYBPC3	c.26-465G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373521C>T	(Likely) benign	1 lab	a92ba02dc3
3:33893974 PDCD6IP G>T	3	33893974	33893974	G	T	PDCD6IP	c.1657-6G>T	NM_001162429.3	NP_001155901.1:p.?	NC_000003.11:g.33893974G>T	(Likely) benign	1 lab	a92f313a49
16:928867 LMF1 T>C	16	928867	928867	T	C	LMF1	c.498+703A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.928867T>C	(Likely) benign	1 lab	a9352983f5
16:11650543 LITAF G>A	16	11650543	11650543	G	A	LITAF	c.44C>T	NM_004862.4	NP_004853.2:p.(Ser15Leu)	NC_000016.9:g.11650543G>A	VUS	1 lab	a935fde939
1:161276579 MPZ C>T	1	161276579	161276579	C	T	MPZ	c.367G>A	NM_000530.8	NP_000521.2:p.(Gly123Ser)	NC_000001.10:g.161276579C>T	(Likely) pathogenic	1 lab	a9369ed477
7:21789320 DNAH11 C>T	7	21789320	21789320	C	T	DNAH11	c.8698C>T	NM_001277115.2	NP_001264044.1:p.(Arg2900Ter)	NC_000007.13:g.21789320C>T	(Likely) pathogenic	1 lab	a938988eb0
3:30715868 TGFBR2 C>A	3	30715868	30715868	C	A	TGFBR2	c.1471+130C>A	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30715868C>A	(Likely) benign	1 lab	a93afd1cde
22:38369903 SOX10 T>G	22	38369903	38369903	T	G	SOX10	c.1000A>C	NM_006941.4	NP_008872.1:p.(Ile334Leu)	NC_000022.10:g.38369903T>G	VUS	1 lab	a93cae2e93
15:73660398 HCN4 G>A	15	73660398	73660398	G	A	HCN4	c.214C>T	NM_005477.3	NP_005468.1:p.(Leu72Phe)	NC_000015.9:g.73660398G>A	VUS	1 lab	a93cc542d5
X:70443622 GJB1 G>A	X	70443622	70443622	G	A	GJB1	c.65G>A	NM_000166.6	NP_000157.1:p.(Arg22Gln)	NC_000023.10:g.70443622G>A	(Likely) pathogenic	1 lab	a9406aa3c1
8:144298046 GPIHBP1 C>G	8	144298046	144298046	C	G	GPIHBP1	c.*653A>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298046C>G	(Likely) benign	1 lab	a941882aca
15:85406879 ALPK3 C>T	15	85406879	85406879	C	T	ALPK3	c.4499+8C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406879C>T	(Likely) benign	1 lab	a944621873
22:51064612 ARSA A>T	22	51064612	51064612	A	T	ARSA	c.949T>A	NM_000487.6	NP_000478.3:p.(Leu317Met)	NC_000022.10:g.51064612A>T	VUS	1 lab	a944bb0845
2:44040836 ABCG5 G>T	2	44040836	44040836	G	T	ABCG5	c.1763-388C>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040836G>T	(Likely) benign	1 lab	a9464f4d29
6:75893106 COL12A1 T>C	6	75893106	75893106	T	C	COL12A1	c.1551A>G	NM_004370.6	NP_004361.3:p.(Thr517=)	NC_000006.11:g.75893106T>C	(Likely) benign	1 lab	a9472a5b6c
9:139089569 LHX3 T>A	9	139089569	139089569	T	A	LHX3	c.811A>T	NM_014564.5	NP_055379.1:p.(Met271Leu)	NC_000009.11:g.139089569T>A	(Likely) benign	1 lab	a948ebbece
X:70444128 GJB1 A>G	X	70444128	70444128	A	G	GJB1	c.571A>G	NM_000166.6	NP_000157.1:p.(Thr191Ala)	NC_000023.10:g.70444128A>G	(Likely) pathogenic	1 lab	a94d173972
2:21245929 APOB A>G	2	21245929	21245929	A	G	APOB	c.2605-15T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21245929A>G	(Likely) benign	1 lab	a94df0e983
22:46859594 CELSR1 G>A	22	46859594	46859594	G	A	CELSR1	c.4183+10C>T	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46859594G>A	(Likely) benign	1 lab	a950634131
6:17606218 FAM8A1 T>G	6	17606218	17606218	T	G	FAM8A1	c.1071T>G	NM_016255.3	NP_057339.1:p.(Ile357Met)	NC_000006.11:g.17606218T>G	(Likely) benign	1 lab	a951d643a3
9:107574906 ABCA1 C>T	9	107574906	107574906	C	T	ABCA1	c.3999G>A	NM_005502.4	NP_005493.2:p.(Leu1333=)	NC_000009.11:g.107574906C>T	(Likely) benign	1 lab	a95279ffb7
3:128525253 RAB7A C>T	3	128525253	128525253	C	T	RAB7A	c.219C>T	NM_004637.6	NP_004628.4:p.(Leu73=)	NC_000003.11:g.128525253C>T	(Likely) benign	1 lab	a957b39e51
16:920733 LMF1 C>T	16	920733	920733	C	T	LMF1	c.1228G>A	NM_022773.4	NP_073610.2:p.(Gly410Arg)	NC_000016.9:g.920733C>T	VUS	1 lab	a959b208dc
2:21224878 APOB A>T	2	21224878	21224878	A	T	APOB	c.13416T>A	NM_000384.3	NP_000375.3:p.(Thr4472=)	NC_000002.11:g.21224878A>T	(Likely) benign	1 lab	a95a12fc8c
1:216496929 USH2A G>A	1	216496929	216496929	G	A	USH2A	c.1437C>T	NM_206933.4	NP_996816.3:p.(Phe479=)	NC_000001.10:g.216496929G>A	(Likely) benign	1 lab	a95b8e67c0
16:929556 LMF1 C>T	16	929556	929556	C	T	LMF1	c.498+14G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929556C>T	(Likely) benign	1 lab	a95cc49615
1:25893463 LDLRAP1 G>A	1	25893463	25893463	G	A	LDLRAP1	c.907G>A	NM_015627.3	NP_056442.2:p.(Asp303Asn)	NC_000001.10:g.25893463G>A	VUS	1 lab	a95e66f1a2
2:179466434 TTN G>T	2	179466434	179466434	G	T	TTN	c.55383C>A	NM_001267550.2	NP_001254479.2:p.(Ala18461=)	NC_000002.11:g.179466434G>T	(Likely) benign	1 lab	a96498b0f9
2:21234576 APOB C>T	2	21234576	21234576	C	T	APOB	c.5164G>A	NM_000384.3	NP_000375.3:p.(Asp1722Asn)	NC_000002.11:g.21234576C>T	VUS	1 lab	a968295863
2:148762373 MISSING Ref too long to show for this DEL>A	2	148762373	148851963	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.148762375_148851963del	(Likely) pathogenic	1 lab	a96949c5e9
X:152878919 MISSING T>Alt too long to show for this DUP	X	152878919	152957899	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152878923_152957899dup	VUS	1 lab	a969e8d1b2
6:16141980 MYLIP A>G	6	16141980	16141980	A	G	MYLIP	c.403A>G	NM_013262.4	NP_037394.2:p.(Thr135Ala)	NC_000006.11:g.16141980A>G	VUS	1 lab	a96fc559b3
9:101904832 TGFBR1 A>G	9	101904832	101904832	A	G	TGFBR1	c.820A>G	NM_004612.4	NP_004603.1:p.(Thr274Ala)	NC_000009.11:g.101904832A>G	VUS	1 lab	a97017f954
14:94849376 SERPINA1 G>A	14	94849376	94849376	G	A	SERPINA1	c.199C>T	NM_001127701.2	NP_001121173.1:p.(His67Tyr)	NC_000014.8:g.94849376G>A	(Likely) benign	1 lab	a971252617
1:103352599 COL11A1 T>C	1	103352599	103352599	T	C	COL11A1	c.4658A>G	NM_080629.3	NP_542196.2:p.(Glu1553Gly)	NC_000001.10:g.103352599T>C	VUS	1 lab	a9745e2b07
8:68030615 CSPP1 T>C	8	68030615	68030615	T	C	CSPP1	c.721+11T>C	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68030615T>C	(Likely) benign	1 lab	a975cc7502
7:128477094 FLNC C>T	7	128477094	128477094	C	T	FLNC	c.602-120C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477094C>T	(Likely) benign	1 lab	a975f5be6d
8:134034244 TG C>T	8	134034244	134034244	C	T	TG	c.6885C>T	NM_003235.5	NP_003226.4:p.(Asn2295=)	NC_000008.10:g.134034244C>T	(Likely) benign	1 lab	a976702ab2
3:132169705 DNAJC13 TA>T	3	132169705	132169717	TA	T	DNAJC13	c.537+26del	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132169717del	(Likely) benign	1 lab	a9768c4f35
8:59411046 CYP7A1 A>G	8	59411046	59411046	A	G	CYP7A1	c.81-18T>C	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59411046A>G	(Likely) benign	1 lab	a97892f856
15:40269052 EIF2AK4 G>A	15	40269052	40269052	G	A	EIF2AK4	c.2249+7G>A	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40269052G>A	(Likely) benign	1 lab	a9796377db
2:21227528 APOB G>A	2	21227528	21227528	G	A	APOB	c.11808C>T	NM_000384.3	NP_000375.3:p.(Ile3936=)	NC_000002.11:g.21227528G>A	(Likely) benign	1 lab	a979e13640
12:49448407 KMT2D T>TC	12	49448407	49448413	T	TC	KMT2D	c.303dup	NM_003482.4	NP_003473.3:p.(Ser102GlufsTer6)	NC_000012.11:g.49448413dup	(Likely) pathogenic	1 lab	a97bb85d1d
2:48027514 MSH6 C>G	2	48027514	48027514	C	G	MSH6	c.2392C>G	NM_000179.3	NP_000170.1:p.(Leu798Val)	NC_000002.11:g.48027514C>G	VUS	1 lab	a97c7e678c
8:10467591 RP1L1 CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTT>C	8	10467591	10467637	CTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTT	C	RP1L1	c.3971_4016del	NM_178857.6	NP_849188.4:p.(Glu1324GlyfsTer18)	NC_000008.10:g.10467592_10467637del	(Likely) benign	1 lab	a97cfa3824
15:40265799 EIF2AK4 A>G	15	40265799	40265799	A	G	EIF2AK4	c.1667A>G	NM_001013703.4	NP_001013725.2:p.(Glu556Gly)	NC_000015.9:g.40265799A>G	(Likely) benign	1 lab	a980862696
1:244218445 ZBTB18 C>T	1	244218445	244218445	C	T	ZBTB18	c.1369C>T	NM_205768.3	NP_991331.1:p.(Gln457Ter)	NC_000001.10:g.244218445C>T	(Likely) pathogenic	1 lab	a984504f83
9:137726870 COL5A1 C>T	9	137726870	137726870	C	T	COL5A1	c.5190C>T	NM_000093.5	NP_000084.3:p.(Phe1730=)	NC_000009.11:g.137726870C>T	(Likely) benign	1 lab	a98c644950
X:24006552 KLHL15 A>T	X	24006552	24006552	A	T	KLHL15	c.1301T>A	NM_030624.3	NP_085127.2:p.(Ile434Asn)	NC_000023.10:g.24006552A>T	VUS	1 lab	a98da5bb66
1:201331505 TNNT2 GGTAC>G	1	201331505	201331509	GGTAC	G	TNNT2	c.579+5_579+8del	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331506_201331509del	(Likely) benign	1 lab	a99298c52e
3:123339085 MYLK G>C	3	123339085	123339085	G	C	MYLK	c.5337C>G	NM_053025.4	NP_444253.3:p.(Ser1779Arg)	NC_000003.11:g.123339085G>C	VUS	1 lab	a9949b35df
8:10762242 MISSING T>Alt too long to show for this DUP	8	10762242	11504919	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.10762243_11504919dup	(Likely) pathogenic	1 lab	aa9cebe63d
9:79936665 VPS13A A>G	9	79936665	79936665	A	G	VPS13A	c.5830+3A>G	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79936665A>G	(Likely) benign	1 lab	a9a3b3b701
9:107595026 ABCA1 G>C	9	107595026	107595026	G	C	ABCA1	c.1338C>G	NM_005502.4	NP_005493.2:p.(Asp446Glu)	NC_000009.11:g.107595026G>C	VUS	1 lab	a9a3ffd22c
19:50796826 MYH14 C>A	19	50796826	50796826	C	A	MYH14	c.5351C>A	NM_001145809.2	NP_001139281.1:p.(Ala1784Asp)	NC_000019.9:g.50796826C>A	VUS	1 lab	a9a4c7c952
19:11231081 LDLR G>A	19	11231081	11231081	G	A	LDLR	c.2023G>A	NM_000527.5	NP_000518.1:p.(Gly675Ser)	NC_000019.9:g.11231081G>A	(Likely) pathogenic	1 lab	a9a51a4f8b
2:21246415 APOB T>C	2	21246415	21246415	T	C	APOB	c.2586A>G	NM_000384.3	NP_000375.3:p.(Val862=)	NC_000002.11:g.21246415T>C	(Likely) benign	1 lab	a9a571df87
2:179540706 TTN C>A	2	179540706	179540706	C	A	TTN	c.34395G>T	NM_001267550.2	NP_001254479.2:p.(Lys11465Asn)	NC_000002.11:g.179540706C>A	VUS	1 lab	a9a70e7b7f
19:30106153 POP4 A>T	19	30106153	30106153	A	T	POP4	c.529A>T	NM_006627.3	NP_006618.1:p.(Ile177Phe)	NC_000019.9:g.30106153A>T	(Likely) benign	1 lab	a9a75eb6dd
3:78767040 ROBO1 A>G	3	78767040	78767040	A	G	ROBO1	c.541-7T>C	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78767040A>G	(Likely) benign	1 lab	a9ad94869a
12:988894 WNK1 G>A	12	988894	988894	G	A	WNK1	c.2529G>A	NM_018979.4	NP_061852.3:p.(Gln843=)	NC_000012.11:g.988894G>A	(Likely) benign	1 lab	a9b0a65893
9:107620346 ABCA1 G>T	9	107620346	107620346	G	T	ABCA1	c.720+457C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620346G>T	(Likely) benign	1 lab	a9b34b2126
11:403799 MISSING C>Alt too long to show for this DUP	11	403799	426221	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.403801_426221dup	VUS	1 lab	a9b3d486ec
11:47356349 MYBPC3 A>G	11	47356349	47356349	A	G	MYBPC3	c.2905+244T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356349A>G	(Likely) benign	1 lab	a9b9660ae4
19:11222681 LDLR G>A	19	11222681	11222681	G	A	LDLR	c.1186+366G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222681G>A	(Likely) benign	1 lab	a9b97a222d
12:2721052 CACNA1C C>G	12	2721052	2721052	C	G	CACNA1C	c.3778-17C>G	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2721052C>G	VUS	1 lab	a9b98f74e4
8:1808126 ARHGEF10 C>T	8	1808126	1808126	C	T	ARHGEF10	c.329C>T	NM_001308153.2	NP_001295082.1:p.(Pro110Leu)	NC_000008.10:g.1808126C>T	VUS	1 lab	a9bb8d51d9
12:863299 WNK1 G>A	12	863299	863299	G	A	WNK1	c.568G>A	NM_001184985.2	NP_001171914.1:p.(Ala190Thr)	NC_000012.11:g.863299G>A	VUS	1 lab	a9bbbd158c
12:21970256 ABCC9 T>TA	12	21970256	21970263	T	TA	ABCC9	c.3772-16dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21970263dup	(Likely) benign	1 lab	a9bda223a1
2:179559536 TTN A>G	2	179559536	179559536	A	G	TTN	c.31348+20T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559536A>G	(Likely) benign	1 lab	a9bf0b4a67
6:112506564 LAMA4 G>C	6	112506564	112506564	G	C	LAMA4	c.946-15C>G	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112506564G>C	VUS	1 lab	a9c2afa3fc
9:135205066 SETX G>C	9	135205066	135205066	G	C	SETX	c.1919C>G	NM_015046.7	NP_055861.3:p.(Ala640Gly)	NC_000009.11:g.135205066G>C	VUS	1 lab	a9c2e2ab8e
20:10622080 JAG1 CA>C	20	10622080	10622090	CA	C	JAG1	c.2916+27del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622090del	(Likely) benign	1 lab	a9c65966e4
5:176638227 NSD1 G>T	5	176638227	176638227	G	T	NSD1	c.2827G>T	NM_022455.5	NP_071900.2:p.(Asp943Tyr)	NC_000005.9:g.176638227G>T	VUS	1 lab	a9c65edea0
21:33038742 SOD1 T>C	21	33038742	33038742	T	C	SOD1	c.170-20T>C	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33038742T>C	(Likely) benign	1 lab	a9c6672f8f
2:241535777 CAPN10 G>GC	2	241535777	241535783	G	GC	CAPN10	c.1326dup	NM_023083.4	NP_075571.2:p.(Val443ArgfsTer18)	NC_000002.11:g.241535783dup	VUS	1 lab	a9c7703354
3:123411574 MYLK C>T	3	123411574	123411574	C	T	MYLK	c.3565+8G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123411574C>T	(Likely) benign	1 lab	a9c7b150d6
12:93742675 MISSING Ref too long to show for this DEL>A	12	93742675	93778522	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.93742676_93778522del	VUS	1 lab	a9c81d9558
7:128413840 OPN1SW G>A	7	128413840	128413840	G	A	OPN1SW	c.781C>T	NM_001385125.1	NP_001372054.1:p.(Pro261Ser)	NC_000007.13:g.128413840G>A	VUS	1 lab	a9c81e3ad0
1:156830751 NTRK1 C>T	1	156830751	156830751	C	T	NTRK1	c.25C>T	NM_002529.4	NP_002520.2:p.(Gln9Ter)	NC_000001.10:g.156830751C>T	(Likely) pathogenic	1 lab	a9cb3c59f4
2:47690162 MSH2 G>C	2	47690162	47690162	G	C	MSH2	c.1387-8G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47690162G>C	(Likely) benign	1 lab	a9cc068dc9
16:1005126 LMF1 A>G	16	1005126	1005126	A	G	LMF1	c.-361-460T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005126A>G	(Likely) benign	1 lab	a9cd93203a
2:241722450 KIF1A G>A	2	241722450	241722450	G	A	KIF1A	c.864+11C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241722450G>A	(Likely) benign	1 lab	a9d204e335
11:47362415 MYBPC3 A>G	11	47362415	47362415	A	G	MYBPC3	c.1927+139T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362415A>G	(Likely) benign	1 lab	a9d22178cd
5:178770897 ADAMTS2 G>A	5	178770897	178770897	G	A	ADAMTS2	c.405C>T	NM_014244.5	NP_055059.2:p.(Ala135=)	NC_000005.9:g.178770897G>A	(Likely) benign	1 lab	a9d311d529
X:154005088 DKC1 CAAGAAG>C	X	154005088	154005111	CAAGAAG	C	DKC1	c.1509_1514del	NM_001363.5	NP_001354.1:p.(Lys504_Lys505del)	NC_000023.10:g.154005106_154005111del	(Likely) benign	1 lab	a9dbafe633
2:48027225 MSH6 A>G	2	48027225	48027225	A	G	MSH6	c.2103A>G	NM_000179.3	NP_000170.1:p.(Leu701=)	NC_000002.11:g.48027225A>G	(Likely) benign	1 lab	a9dcf8b0bf
19:11240196 LDLR C>T	19	11240196	11240196	C	T	LDLR	c.2397C>T	NM_000527.5	NP_000518.1:p.(Leu799=)	NC_000019.9:g.11240196C>T	(Likely) benign	1 lab	a9dd158cb8
1:156834172 NTRK1 A>G	1	156834172	156834172	A	G	NTRK1	c.239A>G	NM_002529.4	NP_002520.2:p.(Gln80Arg)	NC_000001.10:g.156834172A>G	VUS	1 lab	a9dd2ea320
1:55521781 PCSK9 G>A	1	55521781	55521781	G	A	PCSK9	c.915G>A	NM_174936.4	NP_777596.2:p.(Ala305=)	NC_000001.10:g.55521781G>A	(Likely) benign	1 lab	aa08be4bf5
5:127611749 FBN2 C>T	5	127611749	127611749	C	T	FBN2	c.7575G>A	NM_001999.4	NP_001990.2:p.(Glu2525=)	NC_000005.9:g.127611749C>T	(Likely) benign	1 lab	a9ddee951d
2:176981933 HOXD10 T>G	2	176981933	176981933	T	G	HOXD10	c.372T>G	NM_002148.4	NP_002139.2:p.(Ile124Met)	NC_000002.11:g.176981933T>G	(Likely) benign	1 lab	a9df513f23
15:22669050 MISSING T>Alt too long to show for this DUP	15	22669050	23208901	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22669052_23208901dup	VUS	1 lab	a9df615a05
16:57006299 CETP GC>G	16	57006299	57006308	GC	G	CETP	c.750+313del	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006308del	(Likely) benign	1 lab	a9e149332e
2:29295046 PCARE G>A	2	29295046	29295046	G	A	PCARE	c.2082C>T	NM_001029883.3	NP_001025054.1:p.(Asp694=)	NC_000002.11:g.29295046G>A	(Likely) benign	1 lab	a9e15dd9ec
12:2797604 CACNA1C T>C	12	2797604	2797604	T	C	CACNA1C	c.5785-9T>C	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2797604T>C	(Likely) benign	1 lab	a9e1f31a12
X:99629598 PCDH19 A>Alt too long to show for this DUP	X	99629598	99652504	A	Alt too long to show for this DUP	PCDH19	c.2616+5018_2617-23897dup	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99629599_99652504dup	VUS	1 lab	a9e2a8cc91
15:40763523 CHST14 G>C	15	40763523	40763523	G	C	CHST14	c.111G>C	NM_130468.4	NP_569735.1:p.(Pro37=)	NC_000015.9:g.40763523G>C	(Likely) benign	1 lab	a9e2e943df
2:179560871 TTN TCTC>T	2	179560871	179560876	TCTC	T	TTN	c.30925_30927del	NM_001267550.2	NP_001254479.2:p.(Glu10309del)	NC_000002.11:g.179560874_179560876del	VUS	1 lab	a9ec088486
19:18898460 COMP CT>C	19	18898460	18898461	CT	C	COMP	c.976-2del	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18898461del	VUS	1 lab	a9ed8cfd15
1:15237798 KAZN G>Alt too long to show for this DUP	1	15237798	15315072	G	Alt too long to show for this DUP	KAZN	c.227-49381_418+27701dup	NM_201628.3	NP_963922.2:p.?	NC_000001.10:g.15237799_15315072dup	VUS	1 lab	a9ee5f3015
12:57431355 MYO1A T>A	12	57431355	57431355	T	A	MYO1A	c.2032A>T	NM_001256041.2	NP_001242970.1:p.(Ile678Phe)	NC_000012.11:g.57431355T>A	(Likely) benign	1 lab	a9ef838469
8:10167883 MISSING C>Alt too long to show for this DUP	8	10167883	10533655	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.10167884_10533655dup	VUS	1 lab	a9f07b7b1c
14:72818906 RGS6 A>G	14	72818906	72818906	A	G	RGS6	c.184+4A>G	NM_001370282.1	NP_001357211.1:p.?	NC_000014.8:g.72818906A>G	VUS	1 lab	a9f0d9d981
15:58724256 LIPC T>C	15	58724256	58724256	T	C	LIPC	c.25T>C	NM_000236.3	NP_000227.2:p.(Ser9Pro)	NC_000015.9:g.58724256T>C	VUS	1 lab	a9f24010a2
1:227702013 MISSING C>Alt too long to show for this DUP	1	227702013	227810330	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.227702014_227810330dup	VUS	1 lab	a9f5620519
1:63069829 ANGPTL3 C>T	1	63069829	63069829	C	T	ANGPTL3	c.1121C>T	NM_014495.4	NP_055310.1:p.(Pro374Leu)	NC_000001.10:g.63069829C>T	(Likely) benign	1 lab	aa0259078b
5:127645927 FBN2 G>C	5	127645927	127645927	G	C	FBN2	c.5075-127C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127645927G>C	(Likely) benign	1 lab	aa03306eb1
10:68381504 CTNNA3 A>G	10	68381504	68381504	A	G	CTNNA3	c.1320T>C	NM_013266.4	NP_037398.2:p.(Asp440=)	NC_000010.10:g.68381504A>G	(Likely) benign	1 lab	aa08f52901
9:107620843 ABCA1 C>T	9	107620843	107620843	C	T	ABCA1	c.680G>A	NM_005502.4	NP_005493.2:p.(Arg227Gln)	NC_000009.11:g.107620843C>T	VUS	1 lab	aa0a1f85e6
2:179654209 TTN C>CG	2	179654209	179654211	C	CG	TTN	c.1953dup	NM_001267550.2	NP_001254479.2:p.(Glu652ArgfsTer14)	NC_000002.11:g.179654211dup	VUS	1 lab	aa0b1404e9
1:92730169 GLMN G>C	1	92730169	92730169	G	C	GLMN	c.1241C>G	NM_053274.3	NP_444504.1:p.(Ser414Ter)	NC_000001.10:g.92730169G>C	(Likely) pathogenic	1 lab	aa0cf6566d
10:95134707 MYOF G>A	10	95134707	95134707	G	A	MYOF	c.2114C>T	NM_013451.4	NP_038479.1:p.(Thr705Met)	NC_000010.10:g.95134707G>A	(Likely) benign	1 lab	aa0d4e3739
8:10464435 RP1L1 G>A	8	10464435	10464435	G	A	RP1L1	c.7173C>T	NM_178857.6	NP_849188.4:p.(Asp2391=)	NC_000008.10:g.10464435G>A	(Likely) benign	1 lab	aa0ff6ec8d
18:77211764 NFATC1 T>C	18	77211764	77211764	T	C	NFATC1	c.1851T>C	NM_001278669.2	NP_001265598.1:p.(Ser617=)	NC_000018.9:g.77211764T>C	(Likely) benign	1 lab	aa1087fd1c
18:47107798 LIPG G>T	18	47107798	47107798	G	T	LIPG	c.807G>T	NM_006033.4	NP_006024.1:p.(Val269=)	NC_000018.9:g.47107798G>T	(Likely) benign	1 lab	aa1854d1fb
2:21250465 APOB G>A	2	21250465	21250465	G	A	APOB	c.2067+235C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250465G>A	(Likely) benign	1 lab	aa18664d60
1:26387741 TRIM63 C>T	1	26387741	26387741	C	T	TRIM63	c.417G>A	NM_032588.4	NP_115977.2:p.(Val139=)	NC_000001.10:g.26387741C>T	VUS	1 lab	aa3cc0c26c
19:3814301 MISSING Ref too long to show for this DEL>A	19	3814301	5312248	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.3814302_5312248del	(Likely) pathogenic	1 lab	aa18bb887a
16:904720 LMF1 C>T	16	904720	904720	C	T	LMF1	c.1530-14G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.904720C>T	(Likely) benign	1 lab	aa19f498ff
2:21239493 APOB T>C	2	21239493	21239493	T	C	APOB	c.3150A>G	NM_000384.3	NP_000375.3:p.(Thr1050=)	NC_000002.11:g.21239493T>C	(Likely) benign	1 lab	aa1a6728e3
15:48776087 FBN1 T>C	15	48776087	48776087	T	C	FBN1	c.3766A>G	NM_000138.5	NP_000129.3:p.(Asn1256Asp)	NC_000015.9:g.48776087T>C	VUS	1 lab	aa1a91932d
2:225371596 CUL3 CT>C	2	225371596	225371599	CT	C	CUL3	c.1007del	NM_003590.5	NP_003581.1:p.(Lys336ArgfsTer13)	NC_000002.11:g.225371599del	VUS	1 lab	aa204b8847
X:131220194 FRMD7 C>T	X	131220194	131220194	C	T	FRMD7	c.383-132G>A	NM_194277.3	NP_919253.1:p.?	NC_000023.10:g.131220194C>T	(Likely) benign	1 lab	aa22a65d4f
2:179413809 TTN A>G	2	179413809	179413809	A	G	TTN	c.92544T>C	NM_001267550.2	NP_001254479.2:p.(Asp30848=)	NC_000002.11:g.179413809A>G	(Likely) benign	1 lab	aa235ba626
13:32907040 BRCA2 A>C	13	32907040	32907040	A	C	BRCA2	c.1425A>C	NM_000059.4	NP_000050.3:p.(Glu475Asp)	NC_000013.10:g.32907040A>C	(Likely) benign	1 lab	aa23fe6ef8
15:58834058 LIPC C>T	15	58834058	58834058	C	T	LIPC	c.348C>T	NM_000236.3	NP_000227.2:p.(Asn116=)	NC_000015.9:g.58834058C>T	(Likely) benign	1 lab	aa241f4e87
5:127624951 FBN2 T>C	5	127624951	127624951	T	C	FBN2	c.6512-7A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624951T>C	(Likely) benign	1 lab	aa2a043ab7
20:42806605 JPH2 A>G	20	42806605	42806605	A	G	JPH2	c.387T>C	NM_175913.4	NP_787109.2:p.(Cys129=)	NC_000020.10:g.42806605A>G	(Likely) benign	1 lab	aa2a04b30e
3:195452136 MUC20 C>T	3	195452136	195452136	C	T	MUC20	c.662C>T	NM_001282506.2	NP_001269435.1:p.(Pro221Leu)	NC_000003.11:g.195452136C>T	(Likely) benign	1 lab	aa2e75e24f
20:47989992 KCNB1 G>T	20	47989992	47989992	G	T	KCNB1	c.2105C>A	NM_004975.4	NP_004966.1:p.(Ala702Glu)	NC_000020.10:g.47989992G>T	VUS	1 lab	aa2eb84de8
15:89753663 RLBP1 G>A	15	89753663	89753663	G	A	RLBP1	c.807C>T	NM_000326.5	NP_000317.1:p.(His269=)	NC_000015.9:g.89753663G>A	(Likely) benign	1 lab	aa2ee9ba4d
17:1555070 PRPF8 G>A	17	1555070	1555070	G	A	PRPF8	c.6382C>T	NM_006445.4	NP_006436.3:p.(Leu2128=)	NC_000017.10:g.1555070G>A	(Likely) benign	1 lab	aa3180c480
5:53751854 HSPB3 C>CT	5	53751854	53751855	C	CT	HSPB3	c.235_236insT	NM_006308.3	NP_006299.1:p.(Gln79LeufsTer5)	NC_000005.9:g.53751854_53751855insT	VUS	1 lab	aa31ac30c6
5:138260979 CTNNA1 C>T	5	138260979	138260979	C	T	CTNNA1	c.1782C>T	NM_001903.5	NP_001894.2:p.(Ala594=)	NC_000005.9:g.138260979C>T	(Likely) benign	1 lab	aa333ae2de
10:92672657 ANKRD1 TTCTC>T	10	92672657	92672664	TTCTC	T	ANKRD1	c.922_925del	NM_014391.3	NP_055206.2:p.(Glu308ThrfsTer8)	NC_000010.10:g.92672661_92672664del	VUS	1 lab	aa395aba38
15:22770417 MISSING Ref too long to show for this DEL>T	15	22770417	23290819	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22770421_23290819del	(Likely) pathogenic	1 lab	aa39689e14
6:33141797 COL11A2 C>T	6	33141797	33141797	C	T	COL11A2	c.2520G>A	NM_080680.3	NP_542411.2:p.(Arg840=)	NC_000006.11:g.33141797C>T	(Likely) benign	1 lab	aa3d84778b
16:71004654 HYDIN G>T	16	71004654	71004654	G	T	HYDIN	c.5388C>A	NM_001270974.2	NP_001257903.1:p.(Tyr1796Ter)	NC_000016.9:g.71004654G>T	VUS	1 lab	aa439c6848
1:181691006 CACNA1E G>T	1	181691006	181691006	G	T	CACNA1E	c.2069G>T	NM_000721.4	NP_000712.2:p.(Gly690Val)	NC_000001.10:g.181691006G>T	(Likely) pathogenic	1 lab	aa4772119a
5:13870970 DNAH5 A>AT	5	13870970	13870972	A	AT	DNAH5	c.3739dup	NM_001369.3	NP_001360.1:p.(Ile1247AsnfsTer2)	NC_000005.9:g.13870972dup	(Likely) pathogenic	1 lab	aa492da2f1
3:24164475 THRB C>T	3	24164475	24164475	C	T	THRB	c.1286G>A	NM_001252634.2	NP_001239563.1:p.(Arg429Gln)	NC_000003.11:g.24164475C>T	(Likely) pathogenic	1 lab	aa4d80edeb
1:161277130 MPZ G>A	1	161277130	161277130	G	A	MPZ	c.152C>T	NM_000530.8	NP_000521.2:p.(Ser51Phe)	NC_000001.10:g.161277130G>A	(Likely) pathogenic	1 lab	aa4e441c59
2:47635632 MSH2 G>A	2	47635632	47635632	G	A	MSH2	c.304G>A	NM_000251.3	NP_000242.1:p.(Val102Ile)	NC_000002.11:g.47635632G>A	(Likely) benign	1 lab	aa51df680d
6:149700174 TAB2 A>G	6	149700174	149700174	A	G	TAB2	c.1123A>G	NM_015093.6	NP_055908.1:p.(Asn375Asp)	NC_000006.11:g.149700174A>G	VUS	1 lab	aa55274390
9:138651604 KCNT1 T>G	9	138651604	138651604	T	G	KCNT1	c.934T>G	NM_020822.3	NP_065873.2:p.(Phe312Val)	NC_000009.11:g.138651604T>G	(Likely) pathogenic	1 lab	aa557be825
1:116280971 CASQ2 G>A	1	116280971	116280971	G	A	CASQ2	c.421-15C>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116280971G>A	(Likely) benign	1 lab	aa55a62539
X:148059967 AFF2 A>G	X	148059967	148059967	A	G	AFF2	c.3552A>G	NM_002025.4	NP_002016.2:p.(Ser1184=)	NC_000023.10:g.148059967A>G	(Likely) benign	1 lab	aa584ac5b4
15:63353900 TPM1 C>G	15	63353900	63353900	C	G	TPM1	c.564-12C>G	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63353900C>G	(Likely) benign	1 lab	aa58d79ff4
11:47354485 MYBPC3 AGTGG>A	11	47354485	47354492	AGTGG	A	MYBPC3	c.3366_3369del	NM_000256.3	NP_000247.2:p.(His1123AlafsTer65)	NC_000011.9:g.47354489_47354492del	(Likely) benign	1 lab	aa59d75523
12:124332555 DNAH10 C>T	12	124332555	124332555	C	T	DNAH10	c.5508C>T	NM_207437.3	NP_997320.2:p.(Thr1836=)	NC_000012.11:g.124332555C>T	(Likely) benign	1 lab	aa5cc92ded
16:23647638 PALB2 A>G	16	23647638	23647638	A	G	PALB2	c.229T>C	NM_024675.4	NP_078951.2:p.(Cys77Arg)	NC_000016.9:g.23647638A>G	(Likely) benign	1 lab	aa5dc65374
13:23824818 SGCG G>A	13	23824818	23824818	G	A	SGCG	c.347G>A	NM_000231.3	NP_000222.2:p.(Arg116His)	NC_000013.10:g.23824818G>A	(Likely) benign	1 lab	aa5f76a124
4:8870059 HMX1 T>A	4	8870059	8870059	T	A	HMX1	c.407A>T	NM_018942.3	NP_061815.2:p.(Asp136Val)	NC_000004.11:g.8870059T>A	VUS	1 lab	aa5fd167f4
19:11241856 LDLR G>C	19	11241856	11241856	G	C	LDLR	c.2548-101G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241856G>C	(Likely) benign	1 lab	aa64047a00
12:122243947 SETD1B C>T	12	122243947	122243947	C	T	SETD1B	c.480C>T	NM_001353345.2	NP_001340274.1:p.(Ala160=)	NC_000012.11:g.122243947C>T	(Likely) benign	1 lab	aa64601cfa
6:79787402 PHIP C>G	6	79787402	79787402	C	G	PHIP	c.129+15G>C	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79787402C>G	(Likely) benign	1 lab	aa6571b38f
2:21229059 APOB A>C	2	21229059	21229059	A	C	APOB	c.10681T>G	NM_000384.3	NP_000375.3:p.(Ser3561Ala)	NC_000002.11:g.21229059A>C	VUS	1 lab	aa678fd49f
14:23858877 MYH6 G>A	14	23858877	23858877	G	A	MYH6	c.3784C>T	NM_002471.4	NP_002462.2:p.(Arg1262Cys)	NC_000014.8:g.23858877G>A	VUS	1 lab	aa6a0711ca
14:29237129 FOXG1 T>G	14	29237129	29237129	T	G	FOXG1	c.644T>G	NM_005249.5	NP_005240.3:p.(Phe215Cys)	NC_000014.8:g.29237129T>G	(Likely) pathogenic	1 lab	aa7383eb2d
6:56507489 DST A>G	6	56507489	56507489	A	G	DST	c.98T>C	NM_015548.5	NP_056363.2:p.(Leu33Ser)	NC_000006.11:g.56507489A>G	(Likely) benign	1 lab	aa741b5f26
8:134254315 NDRG1 C>T	8	134254315	134254315	C	T	NDRG1	c.894G>A	NM_001135242.2	NP_001128714.1:p.(Pro298=)	NC_000008.10:g.134254315C>T	(Likely) benign	1 lab	aa7463420f
5:95757605 PCSK1 T>C	5	95757605	95757605	T	C	PCSK1	c.599A>G	NM_000439.5	NP_000430.3:p.(Tyr200Cys)	NC_000005.9:g.95757605T>C	VUS	1 lab	aa7562d998
5:10256049 CCT5 C>G	5	10256049	10256049	C	G	CCT5	c.167-18C>G	NM_001306154.2	NP_001293083.1:p.?	NC_000005.9:g.10256049C>G	(Likely) benign	1 lab	aa7573ef3b
7:107556126 DLD G>A	7	107556126	107556126	G	A	DLD	c.860G>A	NM_000108.5	NP_000099.2:p.(Gly287Glu)	NC_000007.13:g.107556126G>A	VUS	1 lab	aa77279c87
2:21238984 APOB A>G	2	21238984	21238984	A	G	APOB	c.3332+327T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238984A>G	(Likely) benign	1 lab	aaaf34e3ea
2:179429520 TTN T>C	2	179429520	179429520	T	C	TTN	c.81339A>G	NM_001267550.2	NP_001254479.2:p.(Glu27113=)	NC_000002.11:g.179429520T>C	(Likely) benign	1 lab	aa77319604
4:68449380 STAP1 G>A	4	68449380	68449380	G	A	STAP1	c.619G>A	NM_012108.4	NP_036240.1:p.(Asp207Asn)	NC_000004.11:g.68449380G>A	VUS	1 lab	aa794e5cee
7:128480073 FLNC CT>C	7	128480073	128480074	CT	C	FLNC	c.1412-3del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480074del	(Likely) benign	1 lab	aa7c57f6a5
2:179475730 TTN G>C	2	179475730	179475730	G	C	TTN	c.51126C>G	NM_001267550.2	NP_001254479.2:p.(Val17042=)	NC_000002.11:g.179475730G>C	(Likely) benign	1 lab	aa7c9c3e04
11:76670073 ACER3 C>T	11	76670073	76670073	C	T	ACER3	c.265C>T	NM_018367.7	NP_060837.3:p.(Gln89Ter)	NC_000011.9:g.76670073C>T	VUS	1 lab	aa7ee9a86a
X:9660156 TBL1X T>C	X	9660156	9660156	T	C	TBL1X	c.753T>C	NM_005647.4	NP_005638.1:p.(Ser251=)	NC_000023.10:g.9660156T>C	(Likely) benign	1 lab	aa81e08212
8:24811784 NEFL G>A	8	24811784	24811784	G	A	NEFL	c.1080C>T	NM_006158.5	NP_006149.2:p.(Thr360=)	NC_000008.10:g.24811784G>A	(Likely) benign	1 lab	aa8285b29f
8:42706048 RNF170 G>A	8	42706048	42706048	G	A	RNF170	c.489C>T	NM_001160224.2	NP_001153696.1:p.(Val163=)	NC_000008.10:g.42706048G>A	VUS	1 lab	aa831eb985
7:151478250 PRKAG2 G>A	7	151478250	151478250	G	A	PRKAG2	c.454C>T	NM_016203.4	NP_057287.2:p.(Arg152Cys)	NC_000007.13:g.151478250G>A	VUS	1 lab	aa86d63c5f
11:116706576 APOA1 A>C	11	116706576	116706576	A	C	APOA1	c.425T>G	NM_001318021.1	NP_001304950.1:p.(Val142Gly)	NC_000011.9:g.116706576A>C	(Likely) benign	1 lab	aa8a4ac91b
X:154310085 MISSING T>Alt too long to show for this DUP	X	154310085	154444067	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154310087_154444067dup	VUS	1 lab	aa8b6fc410
1:156081771 MISSING Ref too long to show for this DEL>A	1	156081771	156116173	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.156081772_156116173del	VUS	1 lab	aa8bb43b02
1:161332111 SDHC G>T	1	161332111	161332111	G	T	SDHC	c.406-8G>T	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332111G>T	(Likely) benign	1 lab	aa90ce4b33
6:32489748 HLA-DRB5 CGCG>C	6	32489748	32489751	CGCG	C	HLA-DRB5	c.301_303del	NM_002125.4	NP_002116.2:p.(Arg101del)	NC_000006.11:g.32489749_32489751del	(Likely) benign	1 lab	aa960acc46
X:72353669 MISSING T>Alt too long to show for this DUP	X	72353669	72507522	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.72353670_72507522dup	VUS	1 lab	aa96bf646d
7:138601511 KIAA1549 G>A	7	138601511	138601511	G	A	KIAA1549	c.2861C>T	NM_001164665.2	NP_001158137.1:p.(Ala954Val)	NC_000007.13:g.138601511G>A	(Likely) benign	1 lab	aa9ad905c3
9:107579626 ABCA1 G>C	9	107579626	107579626	G	C	ABCA1	c.3522C>G	NM_005502.4	NP_005493.2:p.(Asp1174Glu)	NC_000009.11:g.107579626G>C	VUS	1 lab	aa9b4522d0
6:42946204 PEX6 T>C	6	42946204	42946204	T	C	PEX6	c.685A>G	NM_000287.4	NP_000278.3:p.(Arg229Gly)	NC_000006.11:g.42946204T>C	VUS	1 lab	aaa0dbc6b7
3:38621871 SCN5A A>C	3	38621871	38621871	A	C	SCN5A	c.3228+551T>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38621871A>C	VUS	1 lab	aaa11593a3
16:87365025 FBXO31 CGAA>C	16	87365025	87365029	CGAA	C	FBXO31	c.1486_1488del	NM_024735.5	NP_079011.3:p.(Phe496del)	NC_000016.9:g.87365027_87365029del	VUS	1 lab	aaa2ff9549
15:45396158 DUOX2 C>A	15	45396158	45396158	C	A	DUOX2	c.2654G>T	NM_001363711.2	NP_001350640.1:p.(Arg885Leu)	NC_000015.9:g.45396158C>A	VUS	1 lab	aaa77b749c
13:103524734 ERCC5 C>T	13	103524734	103524734	C	T	ERCC5	c.2865C>T	NM_000123.4	NP_000114.3:p.(Leu955=)	NC_000013.10:g.103524734C>T	(Likely) benign	1 lab	aaa8034866
7:33148874 RP9 G>A	7	33148874	33148874	G	A	RP9	c.111C>T	NM_203288.2	NP_976033.1:p.(His37=)	NC_000007.13:g.33148874G>A	(Likely) benign	1 lab	aaab7c1bfa
19:55341674 KIR3DL1 T>A	19	55341674	55341674	T	A	KIR3DL1	c.1279T>A	NM_013289.3	NP_037421.2:p.(Leu427Met)	NC_000019.9:g.55341674T>A	(Likely) benign	1 lab	aaad755db1
5:79950761 MSH3 C>T	5	79950761	79950761	C	T	MSH3	c.215C>T	NM_002439.5	NP_002430.3:p.(Pro72Leu)	NC_000005.9:g.79950761C>T	VUS	1 lab	aab05d4557
16:70942195 HYDIN G>A	16	70942195	70942195	G	A	HYDIN	c.8356C>T	NM_001270974.2	NP_001257903.1:p.(Arg2786Ter)	NC_000016.9:g.70942195G>A	VUS	1 lab	aab0b7221c
9:140137615 TUBB4B C>T	9	140137615	140137615	C	T	TUBB4B	c.945C>T	NM_006088.6	NP_006079.1:p.(Ala315=)	NC_000009.11:g.140137615C>T	(Likely) benign	1 lab	aab2c8d1ee
4:100518746 MTTP A>T	4	100518746	100518746	A	T	MTTP	c.1067+365A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100518746A>T	(Likely) benign	1 lab	aab3e87830
11:47434986 SLC39A13 G>A	11	47434986	47434986	G	A	SLC39A13	c.573G>A	NM_001128225.3	NP_001121697.2:p.(Ala191=)	NC_000011.9:g.47434986G>A	(Likely) benign	1 lab	aab49134ee
X:132889737 GPC3 Ref too long to show for this DEL>A	X	132889737	132890920	Ref too long to show for this DEL	A	GPC3	c.338-2715_338-1535del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132889740_132890920del	VUS	1 lab	aab6492827
2:21228298 APOB G>A	2	21228298	21228298	G	A	APOB	c.11442C>T	NM_000384.3	NP_000375.3:p.(Thr3814=)	NC_000002.11:g.21228298G>A	(Likely) benign	1 lab	aab9a07d67
10:90708563 ACTA2 T>C	10	90708563	90708563	T	C	ACTA2	c.125A>G	NM_001141945.2	NP_001135417.1:p.(His42Arg)	NC_000010.10:g.90708563T>C	VUS	1 lab	aab9a905ff
19:36211764 KMT2B C>T	19	36211764	36211764	C	T	KMT2B	c.1515C>T	NM_014727.3	NP_055542.1:p.(Gly505=)	NC_000019.9:g.36211764C>T	(Likely) benign	1 lab	aabebab7a8
1:27876685 AHDC1 G>A	1	27876685	27876685	G	A	AHDC1	c.1942C>T	NM_001029882.3	NP_001025053.1:p.(Gln648Ter)	NC_000001.10:g.27876685G>A	(Likely) pathogenic	1 lab	aac223160e
3:63823890 MISSING T>Alt too long to show for this DUP	3	63823890	63866151	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.63823891_63866151dup	VUS	1 lab	aac2a85c4d
5:95759146 PCSK1 C>T	5	95759146	95759146	C	T	PCSK1	c.414G>A	NM_000439.5	NP_000430.3:p.(Thr138=)	NC_000005.9:g.95759146C>T	(Likely) benign	1 lab	aac34eb273
18:45391419 SMAD2 A>AT	18	45391419	45391427	A	AT	SMAD2	c.730+10dup	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45391427dup	(Likely) benign	1 lab	aac7918387
10:67680105 CTNNA3 C>G	10	67680105	67680105	C	G	CTNNA3	c.2671G>C	NM_013266.4	NP_037398.2:p.(Gly891Arg)	NC_000010.10:g.67680105C>G	VUS	1 lab	aacd62dad4
6:39881102 MOCS1 A>T	6	39881102	39881102	A	T	MOCS1	c.716T>A	NM_005943.6	NP_005934.2:p.(Leu239His)	NC_000006.11:g.39881102A>T	(Likely) benign	1 lab	aacf1c5954
14:24711364 TINF2 T>C	14	24711364	24711364	T	C	TINF2	c.175A>G	NM_012461.3	NP_036593.2:p.(Met59Val)	NC_000014.8:g.24711364T>C	(Likely) benign	1 lab	aad1b0fa70
3:129152046 MBD4 GATA>G	3	129152046	129152049	GATA	G	MBD4	c.1453_1455del	NM_003925.3	NP_003916.1:p.(Tyr485del)	NC_000003.11:g.129152047_129152049del	VUS	1 lab	aad362ef0a
10:90975117 LIPA C>G	10	90975117	90975117	C	G	LIPA	c.967-299G>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975117C>G	(Likely) benign	1 lab	aae67464b1
19:11223984 LDLR G>C	19	11223984	11223984	G	C	LDLR	c.1217G>C	NM_000527.5	NP_000518.1:p.(Arg406Pro)	NC_000019.9:g.11223984G>C	(Likely) pathogenic	1 lab	aad389e3de
3:154861272 MME G>A	3	154861272	154861272	G	A	MME	c.1229G>A	NM_007289.4	NP_009220.2:p.(Arg410His)	NC_000003.11:g.154861272G>A	VUS	1 lab	aad434418a
1:11907659 NPPA A>G	1	11907659	11907659	A	G	NPPA	c.83T>C	NM_006172.4	NP_006163.1:p.(Met28Thr)	NC_000001.10:g.11907659A>G	(Likely) benign	1 lab	aad500c240
9:107571531 ABCA1 C>T	9	107571531	107571531	C	T	ABCA1	c.4274+216G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107571531C>T	(Likely) benign	1 lab	aad57c77e6
2:44099452 ABCG8 ATC>A	2	44099452	44099455	ATC	A	ABCG8	c.1211+9_1211+10del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099454_44099455del	(Likely) benign	1 lab	aad604e129
2:44079731 ABCG8 T>C	2	44079731	44079731	T	C	ABCG8	c.695-7T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079731T>C	(Likely) benign	1 lab	aad64debb9
16:960599 LMF1 AAGGAGGGCTGGTGGGGGAAGCTC>A	16	960599	960643	AAGGAGGGCTGGTGGGGGAAGCTC	A	LMF1	c.264+309_264+331del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960621_960643del	(Likely) benign	1 lab	aad70d70a7
2:200213750 SATB2 G>A	2	200213750	200213750	G	A	SATB2	c.847C>T	NM_001172509.2	NP_001165980.1:p.(Arg283Ter)	NC_000002.11:g.200213750G>A	(Likely) pathogenic	1 lab	aad8435ff4
9:137717677 COL5A1 A>T	9	137717677	137717677	A	T	COL5A1	c.4994A>T	NM_000093.5	NP_000084.3:p.(Asp1665Val)	NC_000009.11:g.137717677A>T	VUS	1 lab	aadd29c8c5
3:46902325 MYL3 G>A	3	46902325	46902325	G	A	MYL3	c.158-10C>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46902325G>A	(Likely) benign	1 lab	aae18fa13d
2:21231277 APOB C>T	2	21231277	21231277	C	T	APOB	c.8463G>A	NM_000384.3	NP_000375.3:p.(Pro2821=)	NC_000002.11:g.21231277C>T	(Likely) benign	1 lab	aae4c63359
X:65699709 MISSING Ref too long to show for this DEL>G	X	65699709	66037575	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.65699710_66037575del	VUS	1 lab	aae7aa05ba
1:161276594 MPZ C>T	1	161276594	161276594	C	T	MPZ	c.352G>A	NM_000530.8	NP_000521.2:p.(Asp118Asn)	NC_000001.10:g.161276594C>T	(Likely) pathogenic	1 lab	aaea598825
8:87199916 MISSING A>Alt too long to show for this DUP	8	87199916	87333058	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.87199917_87333058dup	VUS	1 lab	aaea5e1287
17:8099181 MISSING A>Alt too long to show for this DUP	17	8099181	8314242	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8099182_8314242dup	VUS	1 lab	aaedcdf25e
14:23886708 MYH7 C>A	14	23886708	23886708	C	A	MYH7	c.4353+4G>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23886708C>A	VUS	1 lab	aaeeacb4bf
1:3328950 PRDM16 T>G	1	3328950	3328950	T	G	PRDM16	c.2189T>G	NM_022114.4	NP_071397.3:p.(Leu730Arg)	NC_000001.10:g.3328950T>G	VUS	1 lab	aaef22f8b2
X:85212938 CHM T>G	X	85212938	85212938	T	G	CHM	c.862A>C	NM_000390.4	NP_000381.1:p.(Thr288Pro)	NC_000023.10:g.85212938T>G	VUS	1 lab	aaef5b75e3
2:179511257 TTN C>T	2	179511257	179511257	C	T	TTN	c.40252G>A	NM_001267550.2	NP_001254479.2:p.(Glu13418Lys)	NC_000002.11:g.179511257C>T	VUS	1 lab	aaf0f326b1
9:139328508 INPP5E G>A	9	139328508	139328508	G	A	INPP5E	c.1015C>T	NM_019892.6	NP_063945.2:p.(Gln339Ter)	NC_000009.11:g.139328508G>A	VUS	1 lab	aaf334b299
2:48045686 FBXO11 Ref too long to show for this DEL>A	2	48045686	48076557	Ref too long to show for this DEL	A	FBXO11	c.233-9649_2006+231del	NM_001190274.2	NP_001177203.1:p.?	NC_000002.11:g.48045687_48076557del	(Likely) pathogenic	1 lab	aaf518aee9
11:129827757 PRDM10 C>T	11	129827757	129827757	C	T	PRDM10	c.118G>A	NM_020228.3	NP_064613.2:p.(Asp40Asn)	NC_000011.9:g.129827757C>T	VUS	1 lab	ab00bf2a6d
9:101907150 TGFBR1 CCA>C	9	101907150	101907154	CCA	C	TGFBR1	c.1113_1114del	NM_004612.4	NP_004603.1:p.(His371GlnfsTer11)	NC_000009.11:g.101907153_101907154del	(Likely) pathogenic	1 lab	ab02afd48d
14:24841198 MISSING C>Alt too long to show for this DUP	14	24841198	25029087	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.24841199_25029087dup	VUS	1 lab	ab03a3288b
9:107593430 ABCA1 TAAA>T	9	107593430	107593451	TAAA	T	ABCA1	c.1716-51_1716-49del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593449_107593451del	(Likely) benign	1 lab	ab06973cc0
4:121737704 PRDM5 G>A	4	121737704	121737704	G	A	PRDM5	c.769C>T	NM_018699.4	NP_061169.2:p.(Arg257Trp)	NC_000004.11:g.121737704G>A	VUS	1 lab	ab083a409d
4:100521746 MTTP C>T	4	100521746	100521746	C	T	MTTP	c.1092C>T	NM_000253.4	NP_000244.2:p.(Thr364=)	NC_000004.11:g.100521746C>T	(Likely) benign	1 lab	ab0a692ac7
9:101732587 COL15A1 Ref too long to show for this DEL>G	9	101732587	101761125	Ref too long to show for this DEL	G	COL15A1	c.101-15259_952+1762del	NM_001855.5	NP_001846.3:p.?	NC_000009.11:g.101732588_101761125del	VUS	1 lab	ab0ec3e8bd
15:28171379 OCA2 G>C	15	28171379	28171379	G	C	OCA2	c.1973C>G	NM_000275.3	NP_000266.2:p.(Ala658Gly)	NC_000015.9:g.28171379G>C	VUS	1 lab	ab10cae89d
6:32065869 TNXB G>T	6	32065869	32065869	G	T	TNXB	c.107C>A	NM_019105.8	NP_061978.6:p.(Ala36Asp)	NC_000006.11:g.32065869G>T	(Likely) benign	1 lab	ab12400491
17:6330291 AIPL1 C>T	17	6330291	6330291	C	T	AIPL1	c.552G>A	NM_014336.5	NP_055151.3:p.(Glu184=)	NC_000017.10:g.6330291C>T	(Likely) benign	1 lab	ab1386e6a6
11:108224627 ATM G>C	11	108224627	108224627	G	C	ATM	c.8786+20G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108224627G>C	(Likely) benign	1 lab	ab142882b8
4:13371521 RAB28 A>G	4	13371521	13371521	A	G	RAB28	c.642T>C	NM_004249.4	NP_004240.2:p.(Ser214=)	NC_000004.11:g.13371521A>G	(Likely) benign	1 lab	ab15a9afd6
11:62457867 BSCL2 C>T	11	62457867	62457867	C	T	BSCL2	c.1361G>A	NM_001122955.4	NP_001116427.1:p.(Arg454Gln)	NC_000011.9:g.62457867C>T	VUS	1 lab	ab166b9744
19:55320293 KIR2DL4 C>T	19	55320293	55320293	C	T	KIR2DL4	c.661C>T	NM_001080772.2	NP_001074241.1:p.(Pro221Ser)	NC_000019.9:g.55320293C>T	(Likely) benign	1 lab	ab16f40f6a
17:34950008 MISSING T>Alt too long to show for this DUP	17	34950008	35057006	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.34950010_35057006dup	VUS	1 lab	ab17af00b5
1:237947436 RYR2 G>A	1	237947436	237947436	G	A	RYR2	c.12424G>A	NM_001035.3	NP_001026.2:p.(Ala4142Thr)	NC_000001.10:g.237947436G>A	(Likely) pathogenic	1 lab	ab18f51e13
11:68704039 IGHMBP2 G>A	11	68704039	68704039	G	A	IGHMBP2	c.2091G>A	NM_002180.3	NP_002171.2:p.(Pro697=)	NC_000011.9:g.68704039G>A	(Likely) benign	1 lab	ab1bb6c36e
15:94740258 MISSING Ref too long to show for this DEL>A	15	94740258	94811865	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.94740259_94811865del	VUS	1 lab	ab1e8b301f
22:41573528 EP300 C>T	22	41573528	41573528	C	T	EP300	c.5813C>T	NM_001429.4	NP_001420.2:p.(Thr1938Met)	NC_000022.10:g.41573528C>T	VUS	1 lab	ab1ee9a48f
5:147803557 FBXO38 G>T	5	147803557	147803557	G	T	FBXO38	c.1619-4G>T	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147803557G>T	(Likely) benign	1 lab	ab1fd1ab0f
2:179421976 TTN G>T	2	179421976	179421976	G	T	TTN	c.80305+4C>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179421976G>T	(Likely) benign	1 lab	ab230b793e
12:133242094 POLE A>G	12	133242094	133242094	A	G	POLE	c.2320-58T>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133242094A>G	(Likely) benign	1 lab	ab288e8b71
6:16130830 MYLIP C>T	6	16130830	16130830	C	T	MYLIP	c.130C>T	NM_013262.4	NP_037394.2:p.(Leu44=)	NC_000006.11:g.16130830C>T	(Likely) benign	1 lab	ab2924c0af
2:44058967 ABCG5 G>A	2	44058967	44058967	G	A	ABCG5	c.442C>T	NM_022436.3	NP_071881.1:p.(Leu148=)	NC_000002.11:g.44058967G>A	(Likely) benign	1 lab	ab2bc014aa
14:102509052 DYNC1H1 G>A	14	102509052	102509052	G	A	DYNC1H1	c.12480G>A	NM_001376.5	NP_001367.2:p.(Thr4160=)	NC_000014.8:g.102509052G>A	(Likely) benign	1 lab	ab2cf671d5
8:31000144 WRN C>T	8	31000144	31000144	C	T	WRN	c.3236C>T	NM_000553.6	NP_000544.2:p.(Ser1079Leu)	NC_000008.10:g.31000144C>T	(Likely) benign	1 lab	ab2d7e5b79
6:123957915 TRDN A>G	6	123957915	123957915	A	G	TRDN	c.6T>C	NM_006073.4	NP_006064.2:p.(Thr2=)	NC_000006.11:g.123957915A>G	(Likely) benign	1 lab	ab2e828b8b
8:94827684 TMEM67 T>C	8	94827684	94827684	T	C	TMEM67	c.2907+9T>C	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94827684T>C	(Likely) benign	1 lab	ab31294dfd
3:148858988 HPS3 T>C	3	148858988	148858988	T	C	HPS3	c.884+13T>C	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148858988T>C	(Likely) benign	1 lab	ab324021d7
6:76728585 IMPG1 A>T	6	76728585	76728585	A	T	IMPG1	c.667-10T>A	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76728585A>T	(Likely) benign	1 lab	ab8b42831d
10:75857006 VCL A>C	10	75857006	75857006	A	C	VCL	c.1788A>C	NM_014000.3	NP_054706.1:p.(Ser596=)	NC_000010.10:g.75857006A>C	(Likely) benign	1 lab	ab3716f616
1:154544491 CHRNB2 G>A	1	154544491	154544491	G	A	CHRNB2	c.1192G>A	NM_000748.3	NP_000739.1:p.(Gly398Arg)	NC_000001.10:g.154544491G>A	VUS	1 lab	ab3769bc18
2:21228350 APOB A>T	2	21228350	21228350	A	T	APOB	c.11390T>A	NM_000384.3	NP_000375.3:p.(Leu3797Ter)	NC_000002.11:g.21228350A>T	(Likely) pathogenic	1 lab	ab39e1079f
2:21241744 APOB C>T	2	21241744	21241744	C	T	APOB	c.3121+120G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241744C>T	(Likely) benign	1 lab	ab3b14133e
10:112557250 RBM20 T>C	10	112557250	112557250	T	C	RBM20	c.1528-16T>C	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112557250T>C	(Likely) benign	1 lab	ab3d9ae760
4:654255 PDE6B G>A	4	654255	654255	G	A	PDE6B	c.1468-1G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.654255G>A	(Likely) pathogenic	1 lab	ab3efb04b6
11:47373517 MYBPC3 G>A	11	47373517	47373517	G	A	MYBPC3	c.26-461C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373517G>A	(Likely) benign	1 lab	ab406ee34a
7:150648837 KCNH2 G>A	7	150648837	150648837	G	A	KCNH2	c.1644C>T	NM_000238.4	NP_000229.1:p.(Ala548=)	NC_000007.13:g.150648837G>A	(Likely) benign	1 lab	ab40c1e585
2:241679505 KIF1A G>A	2	241679505	241679505	G	A	KIF1A	c.3871C>T	NM_001244008.2	NP_001230937.1:p.(Arg1291Cys)	NC_000002.11:g.241679505G>A	VUS	1 lab	ab4103a0b6
12:2760756 CACNA1C A>G	12	2760756	2760756	A	G	CACNA1C	c.3962A>G	NM_001129829.2	NP_001123301.1:p.(His1321Arg)	NC_000012.11:g.2760756A>G	(Likely) benign	1 lab	ab42204aa2
X:119590641 LAMP2 AAAT>A	X	119590641	119590648	AAAT	A	LAMP2	c.65-20_65-18del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119590646_119590648del	(Likely) benign	1 lab	ab450b600c
17:15134321 PMP22 G>A	17	15134321	15134321	G	A	PMP22	c.396C>T	NM_000304.4	NP_000295.1:p.(Tyr132=)	NC_000017.10:g.15134321G>A	(Likely) benign	1 lab	ab455c7bb3
9:140500196 ARRDC1 C>T	9	140500196	140500196	C	T	ARRDC1	c.27C>T	NM_001317968.2	NP_001304897.1:p.(Ile9=)	NC_000009.11:g.140500196C>T	(Likely) benign	1 lab	ab480310da
19:11241967 LDLR T>A	19	11241967	11241967	T	A	LDLR	c.2558T>A	NM_000527.5	NP_000518.1:p.(Val853Asp)	NC_000019.9:g.11241967T>A	VUS	1 lab	ab4a4dea82
17:41234523 BRCA1 C>G	17	41234523	41234523	C	G	BRCA1	c.4255G>C	NM_007294.4	NP_009225.1:p.(Glu1419Gln)	NC_000017.10:g.41234523C>G	(Likely) benign	1 lab	ab4ad05f0b
1:55509606 PCSK9 G>A	1	55509606	55509606	G	A	PCSK9	c.298G>A	NM_174936.4	NP_777596.2:p.(Ala100Thr)	NC_000001.10:g.55509606G>A	VUS	1 lab	ab4b595c61
7:128494594 FLNC C>G	7	128494594	128494594	C	G	FLNC	c.6855C>G	NM_001458.5	NP_001449.3:p.(Pro2285=)	NC_000007.13:g.128494594C>G	VUS	1 lab	ab4cab33e6
3:195731755 MISSING Ref too long to show for this DEL>C	3	195731755	197339470	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.195731756_197339470del	(Likely) pathogenic	1 lab	ab4e87f83d
2:21238283 APOB G>A	2	21238283	21238283	G	A	APOB	c.3467C>T	NM_000384.3	NP_000375.3:p.(Ala1156Val)	NC_000002.11:g.21238283G>A	(Likely) benign	1 lab	ab5072125c
16:10142730 GRIN2A Ref too long to show for this DEL>G	16	10142730	10177758	Ref too long to show for this DEL	G	GRIN2A	c.414+96097_415-110323del	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.10142731_10177758del	VUS	1 lab	ab51cccff5
22:38565325 PLA2G6 G>A	22	38565325	38565325	G	A	PLA2G6	c.109C>T	NM_001349864.2	NP_001336793.1:p.(Arg37Ter)	NC_000022.10:g.38565325G>A	(Likely) pathogenic	1 lab	ab5232c687
8:10469029 RP1L1 C>T	8	10469029	10469029	C	T	RP1L1	c.2579G>A	NM_178857.6	NP_849188.4:p.(Arg860Gln)	NC_000008.10:g.10469029C>T	(Likely) benign	1 lab	ab56b18d73
12:9010056 A2ML1 T>C	12	9010056	9010056	T	C	A2ML1	c.3026-47T>C	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9010056T>C	(Likely) benign	1 lab	ab5bd2d6c8
16:57007296 CETP G>T	16	57007296	57007296	G	T	CETP	c.804G>T	NM_000078.3	NP_000069.2:p.(Ser268=)	NC_000016.9:g.57007296G>T	(Likely) benign	1 lab	ab5d9dbcc9
2:179463562 TTN A>T	2	179463562	179463562	A	T	TTN	c.56875T>A	NM_001267550.2	NP_001254479.2:p.(Tyr18959Asn)	NC_000002.11:g.179463562A>T	VUS	1 lab	ab628d89f0
19:11230332 LDLR C>T	19	11230332	11230332	C	T	LDLR	c.1846-436C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230332C>T	(Likely) benign	1 lab	ab6759d3d1
10:13160878 OPTN T>C	10	13160878	13160878	T	C	OPTN	c.627-10T>C	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13160878T>C	(Likely) benign	1 lab	ab67da4fe2
2:44099096 ABCG8 C>G	2	44099096	44099096	C	G	ABCG8	c.965-19C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099096C>G	(Likely) benign	1 lab	ab699780b9
20:42788580 JPH2 T>C	20	42788580	42788580	T	C	JPH2	c.847A>G	NM_020433.5	NP_065166.2:p.(Ile283Val)	NC_000020.10:g.42788580T>C	VUS	1 lab	ab6c13342f
9:107547832 ABCA1 G>A	9	107547832	107547832	G	A	ABCA1	c.6490C>T	NM_005502.4	NP_005493.2:p.(Pro2164Ser)	NC_000009.11:g.107547832G>A	VUS	1 lab	ab705a51c1
8:39018976 ADAM32 Ref too long to show for this DEL>A	8	39018976	39070593	Ref too long to show for this DEL	A	ADAM32	c.594+493_1233+1750del	NM_145004.7	NP_659441.4:p.?	NC_000008.10:g.39018977_39070593del	VUS	1 lab	ab74336018
5:161456631 MISSING A>Alt too long to show for this DUP	5	161456631	161574156	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.161456633_161574156dup	VUS	1 lab	ab76aaf11a
2:179486280 TTN T>C	2	179486280	179486280	T	C	TTN	c.45271A>G	NM_001267550.2	NP_001254479.2:p.(Asn15091Asp)	NC_000002.11:g.179486280T>C	VUS	1 lab	ab7793231b
3:58097556 FLNB T>G	3	58097556	58097556	T	G	FLNB	c.2523T>G	NM_001164317.2	NP_001157789.1:p.(Pro841=)	NC_000003.11:g.58097556T>G	(Likely) benign	1 lab	ab820a4eff
22:31334099 MORC2 T>G	22	31334099	31334099	T	G	MORC2	c.981A>C	NM_014941.3	NP_055756.1:p.(Arg327=)	NC_000022.10:g.31334099T>G	(Likely) benign	1 lab	ab82af5658
15:84908899 GOLGA6L4 C>T	15	84908899	84908899	C	T	GOLGA6L4	c.793C>T	NM_001267536.3	NP_001254465.2:p.(Arg265Cys)	NC_000015.9:g.84908899C>T	(Likely) benign	1 lab	ab850ca949
16:15870029 MYH11 C>A	16	15870029	15870029	C	A	MYH11	c.816G>T	NM_001040113.2	NP_001035202.1:p.(Leu272=)	NC_000016.9:g.15870029C>A	(Likely) benign	1 lab	ab87d21d2f
9:32986032 APTX A>AAAAAAAAC	9	32986032	32986040	A	AAAAAAAAC	APTX	c.484-5_484-4insGTTTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAAAA	(Likely) benign	1 lab	ab888a1e42
12:20874996 SLCO1C1 C>A	12	20874996	20874996	C	A	SLCO1C1	c.1021+13C>A	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20874996C>A	(Likely) benign	1 lab	ab88c94fb4
16:75669694 KARS1 A>T	16	75669694	75669694	A	T	KARS1	c.763T>A	NM_001130089.2	NP_001123561.1:p.(Tyr255Asn)	NC_000016.9:g.75669694A>T	VUS	1 lab	ab89f5141d
15:63338084 TPM1 Ref too long to show for this DEL>T	15	63338084	63354212	Ref too long to show for this DEL	T	TPM1	c.240+1737_640-202del	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63338088_63354212del	VUS	1 lab	ab8b0d6aeb
8:22273687 SLC39A14 T>C	8	22273687	22273687	T	C	SLC39A14	c.1041T>C	NM_001351660.2	NP_001338589.1:p.(His347=)	NC_000008.10:g.22273687T>C	(Likely) benign	1 lab	ab9092def0
6:43829807 MISSING T>Alt too long to show for this DUP	6	43829807	44017950	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.43829808_44017950dup	VUS	1 lab	ab9182fc8c
5:37206348 CPLANE1 T>C	5	37206348	37206348	T	C	CPLANE1	c.3100A>G	NM_023073.4	NP_075561.3:p.(Ile1034Val)	NC_000005.9:g.37206348T>C	VUS	1 lab	ab92b551f6
X:43937181 MISSING Ref too long to show for this DEL>G	X	43937181	45213115	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.43937184_45213115del	(Likely) pathogenic	1 lab	ab93a2f623
17:59886138 BRIP1 C>T	17	59886138	59886138	C	T	BRIP1	c.628-20G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59886138C>T	(Likely) benign	1 lab	ab9ca9b862
12:57883768 MARS1 A>G	12	57883768	57883768	A	G	MARS1	c.490+14A>G	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57883768A>G	(Likely) benign	1 lab	ab9fa6c001
2:21238047 APOB G>A	2	21238047	21238047	G	A	APOB	c.3594C>T	NM_000384.3	NP_000375.3:p.(Ser1198=)	NC_000002.11:g.21238047G>A	(Likely) benign	1 lab	aba0423d10
9:100616325 FOXE1 G>A	9	100616325	100616325	G	A	FOXE1	c.129G>A	NM_004473.4	NP_004464.2:p.(Arg43=)	NC_000009.11:g.100616325G>A	(Likely) benign	1 lab	aba6007024
11:6662299 DCHS1 T>C	11	6662299	6662299	T	C	DCHS1	c.546A>G	NM_003737.4	NP_003728.1:p.(Leu182=)	NC_000011.9:g.6662299T>C	(Likely) benign	1 lab	aba642d0b6
19:11224283 LDLR C>T	19	11224283	11224283	C	T	LDLR	c.1431C>T	NM_000527.5	NP_000518.1:p.(Asp477=)	NC_000019.9:g.11224283C>T	(Likely) benign	1 lab	aba9bd3cb1
12:6952214 GNB3 C>T	12	6952214	6952214	C	T	GNB3	c.177C>T	NM_002075.4	NP_002066.1:p.(Tyr59=)	NC_000012.11:g.6952214C>T	(Likely) benign	1 lab	abb294c3c9
11:47359460 MYBPC3 G>C	11	47359460	47359460	G	C	MYBPC3	c.2309-115C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359460G>C	(Likely) benign	1 lab	abb3c3a9c1
6:119147283 MCM9 A>T	6	119147283	119147283	A	T	MCM9	c.1961+27T>A	NM_017696.3	NP_060166.2:p.?	NC_000006.11:g.119147283A>T	(Likely) benign	1 lab	abb768db2e
19:15271896 NOTCH3 T>C	19	15271896	15271896	T	C	NOTCH3	c.6543A>G	NM_000435.3	NP_000426.2:p.(Pro2181=)	NC_000019.9:g.15271896T>C	(Likely) benign	1 lab	abba41f013
5:131953758 RAD50 A>T	5	131953758	131953758	A	T	RAD50	c.3165-4A>T	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131953758A>T	(Likely) benign	1 lab	abc1f4efde
12:57928196 DCTN2 G>C	12	57928196	57928196	G	C	DCTN2	c.409C>G	NM_001261412.2	NP_001248341.1:p.(Pro137Ala)	NC_000012.11:g.57928196G>C	(Likely) benign	1 lab	abc5684a7e
8:144295154 GPIHBP1 C>A	8	144295154	144295154	C	A	GPIHBP1	c.12C>A	NM_178172.6	NP_835466.2:p.(Leu4=)	NC_000008.10:g.144295154C>A	(Likely) benign	1 lab	abc5ba5a81
10:121432185 BAG3 G>A	10	121432185	121432185	G	A	BAG3	c.909+17G>A	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121432185G>A	(Likely) benign	1 lab	abc64078b9
15:45401837 DUOX2 A>T	15	45401837	45401837	A	T	DUOX2	c.1132-13T>A	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45401837A>T	VUS	1 lab	abc7862c73
X:466157 MISSING T>Alt too long to show for this DUP	X	466157	851252	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.466158_851252dup	(Likely) pathogenic	1 lab	abc9a442bf
8:19796767 LPL A>T	8	19796767	19796767	A	T	LPL	c.-185A>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796767A>T	(Likely) benign	1 lab	abcb3e8b00
12:56096914 ITGA7 C>T	12	56096914	56096914	C	T	ITGA7	c.255G>A	NM_001144996.2	NP_001138468.1:p.(Ala85=)	NC_000012.11:g.56096914C>T	(Likely) benign	1 lab	abcb44fc81
17:20770017 CCDC144NL C>T	17	20770017	20770017	C	T	CCDC144NL	n.559-1G>A	NR_164128.1		NC_000017.10:g.20770017C>T	(Likely) benign	1 lab	abcb4fcc37
2:44073348 ABCG8 C>G	2	44073348	44073348	C	G	ABCG8	c.220C>G	NM_022437.3	NP_071882.1:p.(Pro74Ala)	NC_000002.11:g.44073348C>G	VUS	1 lab	abcb8aef65
22:25158443 PIWIL3 G>A	22	25158443	25158443	G	A	PIWIL3	c.24C>T	NM_001008496.3	NP_001008496.2:p.(Arg8=)	NC_000022.10:g.25158443G>A	(Likely) benign	1 lab	abcc76041d
2:44054991 ABCG5 G>A	2	44054991	44054991	G	A	ABCG5	c.634+131C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44054991G>A	(Likely) benign	1 lab	abd07a4e74
X:130411193 IGSF1 G>T	X	130411193	130411193	G	T	IGSF1	c.2343C>A	NM_001170961.2	NP_001164432.1:p.(Tyr781Ter)	NC_000023.10:g.130411193G>T	(Likely) pathogenic	1 lab	abd1f585f4
12:30816770 IPO8 A>G	12	30816770	30816770	A	G	IPO8	c.1429-182T>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30816770A>G	(Likely) benign	1 lab	abd559fbc3
14:80677805 DIO2 A>T	14	80677805	80677805	A	T	DIO2	c.11T>A	NM_000793.6	NP_000784.3:p.(Leu4His)	NC_000014.8:g.80677805A>T	(Likely) benign	1 lab	abd63c15e3
8:24814007 NEFL G>C	8	24814007	24814007	G	C	NEFL	c.23C>G	NM_006158.5	NP_006149.2:p.(Pro8Arg)	NC_000008.10:g.24814007G>C	(Likely) pathogenic	1 lab	abd6d24412
19:10283847 DNMT1 A>C	19	10283847	10283847	A	C	DNMT1	c.687T>G	NM_001130823.3	NP_001124295.1:p.(Val229=)	NC_000019.9:g.10283847A>C	(Likely) benign	1 lab	abd7ecf194
14:39502533 SEC23A C>G	14	39502533	39502533	C	G	SEC23A	c.2209-1G>C	NM_006364.4	NP_006355.2:p.?	NC_000014.8:g.39502533C>G	VUS	1 lab	abdca3dc13
12:21590746 PYROXD1 C>A	12	21590746	21590746	C	A	PYROXD1	c.82C>A	NM_024854.5	NP_079130.2:p.(Gln28Lys)	NC_000012.11:g.21590746C>A	(Likely) benign	1 lab	abddadeb58
20:54824728 MC3R T>C	20	54824728	54824728	T	C	MC3R	c.829T>C	NM_019888.3	NP_063941.3:p.(Tyr277His)	NC_000020.10:g.54824728T>C	VUS	1 lab	abe70c1216
9:107602586 ABCA1 G>A	9	107602586	107602586	G	A	ABCA1	c.1028C>T	NM_005502.4	NP_005493.2:p.(Ala343Val)	NC_000009.11:g.107602586G>A	(Likely) benign	1 lab	abea27ddbd
2:179664594 TTN C>G	2	179664594	179664594	C	G	TTN	c.627G>C	NM_001267550.2	NP_001254479.2:p.(Ser209=)	NC_000002.11:g.179664594C>G	(Likely) benign	1 lab	abeb98157a
6:169639746 THBS2 G>T	6	169639746	169639746	G	T	THBS2	c.1077C>A	NM_003247.5	NP_003238.2:p.(Thr359=)	NC_000006.11:g.169639746G>T	(Likely) benign	1 lab	abebd596cf
7:150655368 KCNH2 C>G	7	150655368	150655368	C	G	KCNH2	c.695G>C	NM_000238.4	NP_000229.1:p.(Arg232Pro)	NC_000007.13:g.150655368C>G	VUS	1 lab	abebdba7db
2:220354177 SPEG A>C	2	220354177	220354177	A	C	SPEG	c.8437A>C	NM_005876.5	NP_005867.3:p.(Thr2813Pro)	NC_000002.11:g.220354177A>C	(Likely) benign	1 lab	abeda513c8
X:63412020 AMER1 C>A	X	63412020	63412020	C	A	AMER1	c.1147G>T	NM_152424.4	NP_689637.3:p.(Glu383Ter)	NC_000023.10:g.63412020C>A	(Likely) pathogenic	1 lab	abee19a247
8:59410789 CYP7A1 T>G	8	59410789	59410789	T	G	CYP7A1	c.320A>C	NM_000780.4	NP_000771.2:p.(Lys107Thr)	NC_000008.10:g.59410789T>G	VUS	1 lab	abee43fa23
9:79954425 VPS13A A>T	9	79954425	79954425	A	T	VPS13A	c.6379-7A>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79954425A>T	(Likely) benign	1 lab	abf3848704
2:44055246 ABCG5 G>A	2	44055246	44055246	G	A	ABCG5	c.510C>T	NM_022436.3	NP_071881.1:p.(Ala170=)	NC_000002.11:g.44055246G>A	(Likely) benign	1 lab	abf5616b79
5:7875421 MTRR G>A	5	7875421	7875421	G	A	MTRR	c.334G>A	NM_001364440.2	NP_001351369.1:p.(Asp112Asn)	NC_000005.9:g.7875421G>A	(Likely) pathogenic	1 lab	abfc3bab27
2:179470047 TTN-AS1 C>A	2	179470047	179470047	C	A	TTN-AS1	n.4507C>A	NR_038272.1		NC_000002.11:g.179470047C>A	(Likely) benign	1 lab	abfcbc22a1
5:86670061 RASA1 CT>C	5	86670061	86670062	CT	C	RASA1	c.1859del	NM_002890.3	NP_002881.1:p.(Leu620ArgfsTer6)	NC_000005.9:g.86670062del	(Likely) pathogenic	1 lab	abfd3d1a51
3:123385349 MYLK C>T	3	123385349	123385349	C	T	MYLK	c.3704-156G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123385349C>T	(Likely) benign	1 lab	abfec24803
8:24813448 NEFL T>G	8	24813448	24813448	T	G	NEFL	c.582A>C	NM_006158.5	NP_006149.2:p.(Glu194Asp)	NC_000008.10:g.24813448T>G	(Likely) benign	1 lab	abfefedf0f
4:16010722 PROM1 C>G	4	16010722	16010722	C	G	PROM1	c.1124G>C	NM_001145847.2	NP_001139319.1:p.(Arg375Thr)	NC_000004.11:g.16010722C>G	VUS	1 lab	abff7f5aa8
13:114322416 GRK1 C>T	13	114322416	114322416	C	T	GRK1	c.699+16C>T	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114322416C>T	(Likely) benign	1 lab	ac06c1b084
15:48704937 FBN1 G>C	15	48704937	48704937	G	C	FBN1	c.8055C>G	NM_000138.5	NP_000129.3:p.(His2685Gln)	NC_000015.9:g.48704937G>C	VUS	1 lab	ac079ef3ad
14:102467710 DYNC1H1 C>T	14	102467710	102467710	C	T	DYNC1H1	c.4395+19C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102467710C>T	(Likely) benign	1 lab	ac07a65356
X:150408223 MISSING C>Alt too long to show for this DUP	X	150408223	150770034	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150408224_150770034dup	VUS	1 lab	ac07e995ce
19:11216085 LDLR A>C	19	11216085	11216085	A	C	LDLR	c.503A>C	NM_000527.5	NP_000518.1:p.(Asp168Ala)	NC_000019.9:g.11216085A>C	(Likely) pathogenic	1 lab	ac088e5aa5
2:44079754 ABCG8 C>T	2	44079754	44079754	C	T	ABCG8	c.711C>T	NM_022437.3	NP_071882.1:p.(Asp237=)	NC_000002.11:g.44079754C>T	(Likely) benign	1 lab	ac09f82975
3:58117664 FLNB G>A	3	58117664	58117664	G	A	FLNB	c.4401G>A	NM_001164317.2	NP_001157789.1:p.(Thr1467=)	NC_000003.11:g.58117664G>A	(Likely) benign	1 lab	ac0b0a31fe
11:47353963 MYBPC3 A>G	11	47353963	47353963	A	G	MYBPC3	c.3627+154T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353963A>G	(Likely) benign	1 lab	ac0f1b9d75
1:236900597 ACTN2 G>GTATA	1	236900597	236900598	G	GTATA	ACTN2	c.876+83_876+84insTATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATA	(Likely) benign	1 lab	ac121d12ab
5:34004802 AMACR C>T	5	34004802	34004802	C	T	AMACR	c.429G>A	NM_014324.6	NP_055139.4:p.(Pro143=)	NC_000005.9:g.34004802C>T	(Likely) benign	1 lab	ac1252ce4b
7:81386630 HGF A>G	7	81386630	81386630	A	G	HGF	c.368-11T>C	NM_000601.6	NP_000592.3:p.?	NC_000007.13:g.81386630A>G	(Likely) benign	1 lab	ac141de3b1
1:161276609 MPZ C>T	1	161276609	161276609	C	T	MPZ	c.337G>A	NM_000530.8	NP_000521.2:p.(Val113Ile)	NC_000001.10:g.161276609C>T	(Likely) benign	1 lab	ac177ea2b3
2:179411152 TTN C>T	2	179411152	179411152	C	T	TTN	c.94906G>A	NM_001267550.2	NP_001254479.2:p.(Asp31636Asn)	NC_000002.11:g.179411152C>T	(Likely) benign	1 lab	ac18b4d594
9:79982959 VPS13A C>T	9	79982959	79982959	C	T	VPS13A	c.8472-12C>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79982959C>T	(Likely) benign	1 lab	ac19855fdf
11:47370657 MYBPC3 G>C	11	47370657	47370657	G	C	MYBPC3	c.655-565C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370657G>C	(Likely) benign	1 lab	ac1b7fa481
3:38645213 SCN5A G>A	3	38645213	38645213	G	A	SCN5A	c.1880C>T	NM_198056.3	NP_932173.1:p.(Pro627Leu)	NC_000003.11:g.38645213G>A	VUS	1 lab	ac1d59b6be
19:11242000 LDLR C>T	19	11242000	11242000	C	T	LDLR	c.*8C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242000C>T	VUS	1 lab	ac1d975288
3:38655751 SCN5A T>G	3	38655751	38655751	T	G	SCN5A	c.612-426A>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38655751T>G	(Likely) benign	1 lab	ac20af891f
1:109466682 GPSM2 C>A	1	109466682	109466682	C	A	GPSM2	c.1661C>A	NM_013296.5	NP_037428.3:p.(Ser554Ter)	NC_000001.10:g.109466682C>A	(Likely) pathogenic	1 lab	ac21526880
4:65194279 TECRL T>G	4	65194279	65194279	T	G	TECRL	c.287-5A>C	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65194279T>G	(Likely) benign	1 lab	ac21e31608
2:179501217 TTN A>T	2	179501217	179501217	A	T	TTN	c.41237T>A	NM_001267550.2	NP_001254479.2:p.(Ile13746Asn)	NC_000002.11:g.179501217A>T	VUS	1 lab	ac236b3d45
7:154681009 DPP6 G>A	7	154681009	154681009	G	A	DPP6	c.2332G>A	NM_130797.4	NP_570629.2:p.(Ala778Thr)	NC_000007.13:g.154681009G>A	(Likely) benign	1 lab	ac23c54b2a
2:215593404 BARD1 C>T	2	215593404	215593404	C	T	BARD1	c.2330G>A	NM_000465.4	NP_000456.2:p.(Ser777Asn)	NC_000002.11:g.215593404C>T	VUS	1 lab	ac252fe807
11:108143542 ATM C>A	11	108143542	108143542	C	A	ATM	c.3247C>A	NM_000051.4	NP_000042.3:p.(His1083Asn)	NC_000011.9:g.108143542C>A	VUS	1 lab	ac29a926d8
11:47353821 MYBPC3 G>A	11	47353821	47353821	G	A	MYBPC3	c.3628-12C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353821G>A	(Likely) benign	1 lab	ac2f669ddb
20:54824533 MC3R C>G	20	54824533	54824533	C	G	MC3R	c.634C>G	NM_019888.3	NP_063941.3:p.(Leu212Val)	NC_000020.10:g.54824533C>G	VUS	1 lab	ac30a9b5ad
11:88961084 TYR T>C	11	88961084	88961084	T	C	TYR	c.1130T>C	NM_000372.5	NP_000363.1:p.(Val377Ala)	NC_000011.9:g.88961084T>C	VUS	1 lab	ac31630fb7
11:47365396 MYBPC3 A>G	11	47365396	47365396	A	G	MYBPC3	c.1091-221T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365396A>G	(Likely) benign	1 lab	ac35a6ff1e
21:37812954 MISSING T>Alt too long to show for this DUP	21	37812954	38022059	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.37812956_38022059dup	VUS	1 lab	ac36d10480
6:10830854 MAK A>G	6	10830854	10830854	A	G	MAK	c.28T>C	NM_001242957.3	NP_001229886.1:p.(Leu10=)	NC_000006.11:g.10830854A>G	(Likely) benign	1 lab	ac39ab8a96
19:54287789 MISSING Ref too long to show for this DEL>A	19	54287789	54391123	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.54287790_54391123del	VUS	1 lab	ac39b6ac4e
12:50500616 GPD1 C>A	12	50500616	50500616	C	A	GPD1	c.528C>A	NM_005276.4	NP_005267.2:p.(Leu176=)	NC_000012.11:g.50500616C>A	VUS	1 lab	ac3c51ba95
12:21370044 SLCO1B1 A>G	12	21370044	21370044	A	G	SLCO1B1	c.1498-9A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370044A>G	(Likely) benign	1 lab	ac40be0d72
10:18825116 CACNB2 G>A	10	18825116	18825116	G	A	CACNB2	c.1128G>A	NM_000724.4	NP_000715.2:p.(Gln376=)	NC_000010.10:g.18825116G>A	(Likely) benign	1 lab	ac4486a664
2:208632420 FZD5 C>T	2	208632420	208632420	C	T	FZD5	c.1044G>A	NM_003468.4	NP_003459.2:p.(Trp348Ter)	NC_000002.11:g.208632420C>T	(Likely) pathogenic	1 lab	ac4871a571
16:46781795 MYLK3 G>A	16	46781795	46781795	G	A	MYLK3	c.311C>T	NM_182493.3	NP_872299.2:p.(Ala104Val)	NC_000016.9:g.46781795G>A	VUS	1 lab	ac495503e3
17:1554860 PRPF8 A>G	17	1554860	1554860	A	G	PRPF8	c.6511-13T>C	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1554860A>G	(Likely) benign	1 lab	ac497b6767
21:47542021 COL6A2 G>A	21	47542021	47542021	G	A	COL6A2	c.1522-1G>A	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47542021G>A	(Likely) pathogenic	1 lab	ac4a145694
3:100992408 IMPG2 T>G	3	100992408	100992408	T	G	IMPG2	c.828+17A>C	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100992408T>G	(Likely) benign	1 lab	ac4cde4b05
10:26825151 APBB1IP GA>G	10	26825151	26825167	GA	G	APBB1IP	c.1044+21del	NM_019043.4	NP_061916.3:p.?	NC_000010.10:g.26825167del	(Likely) benign	1 lab	ac4dc464e0
10:56424027 PCDH15 T>C	10	56424027	56424027	T	C	PCDH15	c.-5A>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.56424027T>C	(Likely) benign	1 lab	ac4ddeba49
1:216040530 USH2A T>TA	1	216040530	216040537	T	TA	USH2A	c.8682-19dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216040537dup	(Likely) benign	1 lab	ac4fc7bc46
8:19796859 LPL C>T	8	19796859	19796859	C	T	LPL	c.-93C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796859C>T	VUS	1 lab	b16903e1eb
12:2717696 CACNA1C G>A	12	2717696	2717696	G	A	CACNA1C	c.3436G>A	NM_199460.4	NP_955630.3:p.(Asp1146Asn)	NC_000012.11:g.2717696G>A	VUS	1 lab	ac52c15cd8
17:1158448 MISSING Ref too long to show for this DEL>G	17	1158448	1859254	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.1158452_1859254del	(Likely) pathogenic	1 lab	ac5459a768
5:127873067 FBN2 C>A	5	127873067	127873067	C	A	FBN2	c.230G>T	NM_001999.4	NP_001990.2:p.(Arg77Leu)	NC_000005.9:g.127873067C>A	VUS	1 lab	ac5697dba6
10:97387248 ALDH18A1 A>G	10	97387248	97387248	A	G	ALDH18A1	c.1029T>C	NM_002860.4	NP_002851.2:p.(Ile343=)	NC_000010.10:g.97387248A>G	(Likely) benign	1 lab	ac569a836a
15:72874532 ARIH1 A>AT	15	72874532	72874541	A	AT	ARIH1	c.1589+13dup	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72874541dup	(Likely) benign	1 lab	ac59c9d7dd
4:100502822 MTTP G>T	4	100502822	100502822	G	T	MTTP	c.62-240G>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100502822G>T	(Likely) benign	1 lab	ac5f18617b
8:133923701 TG G>A	8	133923701	133923701	G	A	TG	c.4082G>A	NM_003235.5	NP_003226.4:p.(Arg1361His)	NC_000008.10:g.133923701G>A	VUS	1 lab	ac645a2bf5
10:70204845 DNA2 G>GA	10	70204845	70204853	G	GA	DNA2	c.1058-6dup	NM_001080449.3	NP_001073918.2:p.?	NC_000010.10:g.70204853dup	(Likely) benign	1 lab	ac680b73e3
7:103489052 RELN C>Alt too long to show for this DUP	7	103489052	103512017	C	Alt too long to show for this DUP	RELN	c.338-37897_338-14934dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103489054_103512017dup	VUS	1 lab	ac68133a1c
3:53844317 CACNA1D G>A	3	53844317	53844317	G	A	CACNA1D	c.6244G>A	NM_000720.4	NP_000711.1:p.(Val2082Met)	NC_000003.11:g.53844317G>A	VUS	1 lab	ac68c9fa68
X:2835995 ARSD C>A	X	2835995	2835995	C	A	ARSD	c.713G>T	NM_001669.4	NP_001660.2:p.(Cys238Phe)	NC_000023.10:g.2835995C>A	(Likely) benign	1 lab	ac6bbbd483
14:102477202 DYNC1H1 C>T	14	102477202	102477202	C	T	DYNC1H1	c.6531C>T	NM_001376.5	NP_001367.2:p.(Ala2177=)	NC_000014.8:g.102477202C>T	(Likely) benign	1 lab	ac70200ccf
7:107323627 SLC26A4 A>C	7	107323627	107323627	A	C	SLC26A4	c.766-20A>C	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107323627A>C	(Likely) benign	1 lab	ac702db076
5:82834349 VCAN G>A	5	82834349	82834349	G	A	VCAN	c.5527G>A	NM_004385.5	NP_004376.2:p.(Asp1843Asn)	NC_000005.9:g.82834349G>A	(Likely) benign	1 lab	ac70f87f5c
11:116707136 APOA1 T>C	11	116707136	116707136	T	C	APOA1	c.-127-9A>G	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707136T>C	(Likely) benign	1 lab	ac72cf2ebe
16:66582866 TK2 A>G	16	66582866	66582866	A	G	TK2	c.-87+15T>C	NM_001271934.2	NP_001258863.1:p.?	NC_000016.9:g.66582866A>G	(Likely) benign	1 lab	ac7593c016
8:19816768 LPL C>A	8	19816768	19816768	C	A	LPL	c.1019-3C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816768C>A	(Likely) pathogenic	1 lab	ac75b53490
9:111674620 ELP1 A>G	9	111674620	111674620	A	G	ELP1	c.1113T>C	NM_003640.5	NP_003631.2:p.(Tyr371=)	NC_000009.11:g.111674620A>G	(Likely) benign	1 lab	ac78b04ccf
16:960855 LMF1 C>T	16	960855	960855	C	T	LMF1	c.663+76G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.960855C>T	(Likely) benign	1 lab	ac7aab2c98
17:29508819 NF1 A>ATTTTTTTTT	17	29508819	29508835	A	ATTTTTTTTT	NF1	c.730+24_730+32dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508827_29508835dup	(Likely) benign	1 lab	ac7fd99524
9:139401876 NOTCH1 T>C	9	139401876	139401876	T	C	NOTCH1	c.3524A>G	NM_017617.5	NP_060087.3:p.(Tyr1175Cys)	NC_000009.11:g.139401876T>C	VUS	1 lab	ac8071c9c7
12:110252412 TRPV4 GC>G	12	110252412	110252415	GC	G	TRPV4	c.189del	NM_021625.5	NP_067638.3:p.(Arg64AspfsTer6)	NC_000012.11:g.110252415del	(Likely) pathogenic	1 lab	ac835cb4c3
22:42606530 TCF20 C>A	22	42606530	42606530	C	A	TCF20	c.4782G>T	NM_005650.4	NP_005641.1:p.(Arg1594Ser)	NC_000022.10:g.42606530C>A	VUS	1 lab	ac8886e73d
17:78360614 RNF213 CAGG>C	17	78360614	78360619	CAGG	C	RNF213	c.14848_14850del	NM_001256071.3	NP_001243000.2:p.(Glu4950del)	NC_000017.10:g.78360617_78360619del	VUS	1 lab	ac8b0c654e
12:117963033 KSR2 G>A	12	117963033	117963033	G	A	KSR2	c.1852-9C>T	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117963033G>A	(Likely) benign	1 lab	ac8b4bd68c
2:21252899 APOB G>A	2	21252899	21252899	G	A	APOB	c.1353-12C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252899G>A	(Likely) benign	1 lab	ac8e143ab1
9:107555175 ABCA1 T>C	9	107555175	107555175	T	C	ABCA1	c.5649A>G	NM_005502.4	NP_005493.2:p.(Ala1883=)	NC_000009.11:g.107555175T>C	(Likely) benign	1 lab	ac8fe9b570
9:101867537 TGFBR1 T>TGGC	9	101867537	101867565	T	TGGC	TGFBR1	c.76_78dup	NM_004612.4	NP_004603.1:p.(Ala26dup)	NC_000009.11:g.101867563_101867565dup	(Likely) benign	1 lab	ac90b8ac61
12:88452765 CEP290 T>C	12	88452765	88452765	T	C	CEP290	c.6678A>G	NM_025114.4	NP_079390.3:p.(Ala2226=)	NC_000012.11:g.88452765T>C	(Likely) benign	1 lab	ac948b940e
12:124102612 MISSING G>Alt too long to show for this DUP	12	124102612	124207784	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.124102613_124207784dup	VUS	1 lab	ac961b2c3b
4:100518328 MTTP T>C	4	100518328	100518328	T	C	MTTP	c.1014T>C	NM_000253.4	NP_000244.2:p.(Thr338=)	NC_000004.11:g.100518328T>C	(Likely) benign	1 lab	ac971a8c88
19:48946168 GRIN2D G>A	19	48946168	48946168	G	A	GRIN2D	c.2985G>A	NM_000836.4	NP_000827.2:p.(Pro995=)	NC_000019.9:g.48946168G>A	(Likely) benign	1 lab	ac9c4b19df
X:55172716 VCF2 C>T	X	55172716	55172716	C	T	VCF2	c.146G>A	NM_001166703.2	NP_001160175.1:p.(Ser49Asn)	NC_000023.10:g.55172716C>T	(Likely) benign	1 lab	ac9f23cde7
2:179470444 TTN T>C	2	179470444	179470444	T	C	TTN	c.45878-4A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179470444T>C	(Likely) benign	1 lab	ac9f30be00
19:11224157 LDLR C>T	19	11224157	11224157	C	T	LDLR	c.1358+32C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224157C>T	VUS	1 lab	aca0a4ef7c
19:11242044 LDLR G>A	19	11242044	11242044	G	A	LDLR	c.*52G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242044G>A	(Likely) benign	1 lab	aca146f5f7
19:55316320 KIR2DL4 G>T	19	55316320	55316320	G	T	KIR2DL4	c.149G>T	NM_001080772.2	NP_001074241.1:p.(Arg50Leu)	NC_000019.9:g.55316320G>T	(Likely) benign	1 lab	aca4b7141c
19:8203328 FBN3 G>A	19	8203328	8203328	G	A	FBN3	c.986C>T	NM_032447.5	NP_115823.3:p.(Pro329Leu)	NC_000019.9:g.8203328G>A	(Likely) benign	1 lab	aca6734ca7
19:11226801 LDLR G>T	19	11226801	11226801	G	T	LDLR	c.1618G>T	NM_000527.5	NP_000518.1:p.(Ala540Ser)	NC_000019.9:g.11226801G>T	(Likely) pathogenic	1 lab	aca77f1683
1:12030886 PLOD1 G>A	1	12030886	12030886	G	A	PLOD1	c.1902+13G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12030886G>A	(Likely) benign	1 lab	acaf8bed70
11:68703756 IGHMBP2 G>A	11	68703756	68703756	G	A	IGHMBP2	c.1808G>A	NM_002180.3	NP_002171.2:p.(Arg603His)	NC_000011.9:g.68703756G>A	(Likely) pathogenic	1 lab	acafe2dabd
5:140025241 NDUFA2 G>A	5	140025241	140025241	G	A	NDUFA2	c.231C>T	NM_002488.5	NP_002479.1:p.(Val77=)	NC_000005.9:g.140025241G>A	(Likely) benign	1 lab	acb01d98ee
17:1586941 PRPF8 C>A	17	1586941	1586941	C	A	PRPF8	c.155G>T	NM_006445.4	NP_006436.3:p.(Gly52Val)	NC_000017.10:g.1586941C>A	VUS	1 lab	acb207eb9e
1:201332480 TNNT2 C>A	1	201332480	201332480	C	A	TNNT2	c.514G>T	NM_001276347.2	NP_001263276.1:p.(Ala172Ser)	NC_000001.10:g.201332480C>A	(Likely) pathogenic	1 lab	acb3a076c1
5:147807259 FBXO38 G>A	5	147807259	147807259	G	A	FBXO38	c.2402G>A	NM_205836.3	NP_995308.1:p.(Arg801Gln)	NC_000005.9:g.147807259G>A	VUS	1 lab	acb40bd3c1
11:74168560 KCNE3 C>T	11	74168560	74168560	C	T	KCNE3	c.49G>A	NM_005472.5	NP_005463.1:p.(Val17Met)	NC_000011.9:g.74168560C>T	VUS	1 lab	acb48a6cb0
13:78091566 MISSING Ref too long to show for this DEL>A	13	78091566	78107942	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.78091569_78107942del	VUS	1 lab	acb8b19164
10:126686682 CTBP2 A>G	10	126686682	126686682	A	G	CTBP2	c.2036T>C	NM_022802.3	NP_073713.2:p.(Ile679Thr)	NC_000010.10:g.126686682A>G	(Likely) benign	1 lab	acbc0f6176
19:11221364 LDLR C>G	19	11221364	11221364	C	G	LDLR	c.977C>G	NM_000527.5	NP_000518.1:p.(Ser326Cys)	NC_000019.9:g.11221364C>G	(Likely) pathogenic	1 lab	acc190977b
11:68193606 LRP5 C>T	11	68193606	68193606	C	T	LRP5	c.1845C>T	NM_001291902.2	NP_001278831.1:p.(Ala615=)	NC_000011.9:g.68193606C>T	(Likely) benign	1 lab	acc37002d7
8:10474095 RP1L1 C>T	8	10474095	10474095	C	T	RP1L1	c.612G>A	NM_178857.6	NP_849188.4:p.(Val204=)	NC_000008.10:g.10474095C>T	(Likely) benign	1 lab	acc44e4fe2
10:90983490 LIPA C>T	10	90983490	90983490	C	T	LIPA	c.773G>A	NM_000235.4	NP_000226.2:p.(Gly258Glu)	NC_000010.10:g.90983490C>T	VUS	1 lab	accc20109e
9:98270517 PTCH1 C>T	9	98270517	98270517	C	T	PTCH1	c.127G>A	NM_000264.5	NP_000255.2:p.(Ala43Thr)	NC_000009.11:g.98270517C>T	(Likely) benign	1 lab	accd1aafea
7:151878562 KMT2C TG>T	7	151878562	151878563	TG	T	KMT2C	c.6382del	NM_170606.3	NP_733751.2:p.(Gln2128ArgfsTer15)	NC_000007.13:g.151878563del	(Likely) pathogenic	1 lab	accd3ed91f
2:179580332 TTN C>T	2	179580332	179580332	C	T	TTN	c.25809G>A	NM_001267550.2	NP_001254479.2:p.(Ser8603=)	NC_000002.11:g.179580332C>T	(Likely) benign	1 lab	accdd9b2d6
18:47088789 LIPG G>A	18	47088789	47088789	G	A	LIPG	c.97+14G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088789G>A	(Likely) benign	1 lab	accdfcda03
9:116046557 PRPF4 AT>A	9	116046557	116046565	AT	A	PRPF4	c.-111-10del	NM_001322267.2	NP_001309196.1:p.?	NC_000009.11:g.116046565del	(Likely) benign	1 lab	accf5dd6ff
16:57918056 CNGB1 C>T	16	57918056	57918056	C	T	CNGB1	c.*12G>A	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57918056C>T	(Likely) benign	1 lab	acd052b926
12:38712049 ALG10B CTTTCATTTTA>C	12	38712049	38712059	CTTTCATTTTA	C	ALG10B	c.172-13_172-4del	NM_001013620.4	NP_001013642.2:p.?	NC_000012.11:g.38712050_38712059del	(Likely) benign	1 lab	acd1e3857e
18:3870382 DLGAP1 Ref too long to show for this DEL>T	18	3870382	4436190	Ref too long to show for this DEL	T	DLGAP1	c.-267+18817_957+8729del	NM_004746.4	NP_004737.2:p.?	NC_000018.9:g.3870384_4436190del	(Likely) pathogenic	1 lab	acd2871cfe
1:236900597 ACTN2 GCATATA>G	1	236900597	236900603	GCATATA	G	ACTN2	c.876+84_876+89del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900598_236900603del	(Likely) benign	1 lab	acd28d5d71
7:110526636 IMMP2L Ref too long to show for this DEL>A	7	110526636	110636235	Ref too long to show for this DEL	A	IMMP2L	c.240-32613_408+12del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110526638_110636235del	VUS	1 lab	acd2914b74
16:935567 LMF1 C>T	16	935567	935567	C	T	LMF1	c.331-5830G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.935567C>T	(Likely) benign	1 lab	acd4198126
5:179263515 SQSTM1 G>A	5	179263515	179263515	G	A	SQSTM1	c.993G>A	NM_001142298.2	NP_001135770.1:p.(Arg331=)	NC_000005.9:g.179263515G>A	(Likely) benign	1 lab	acd5895b06
X:152977555 BCAP31 A>Alt too long to show for this DUP	X	152977555	152993015	A	Alt too long to show for this DUP	BCAP31				NC_000023.10:g.152977556_152993015dup	VUS	1 lab	acd75ac579
2:179614949 TTN C>T	2	179614949	179614949	C	T	TTN	c.12178G>A	NM_133379.5	NP_596870.2:p.(Ala4060Thr)	NC_000002.11:g.179614949C>T	VUS	1 lab	ace098ee87
16:84189227 DNAAF1 A>G	16	84189227	84189227	A	G	DNAAF1	c.614A>G	NM_178452.6	NP_848547.4:p.(Asn205Ser)	NC_000016.9:g.84189227A>G	VUS	1 lab	ace2753f0e
19:22847823 ZNF492 A>G	19	22847823	22847823	A	G	ZNF492	c.1352A>G	NM_020855.3	NP_065906.1:p.(Tyr451Cys)	NC_000019.9:g.22847823A>G	(Likely) benign	1 lab	ace40ca439
12:57892217 MARS1 G>A	12	57892217	57892217	G	A	MARS1	c.902G>A	NM_004990.4	NP_004981.2:p.(Arg301His)	NC_000012.11:g.57892217G>A	VUS	1 lab	ace682a772
17:19937883 SPECC1 Ref too long to show for this DEL>A	17	19937883	20102374	Ref too long to show for this DEL	A	SPECC1	c.-22+25147_284-5272del	NM_001243439.2	NP_001230368.1:p.?	NC_000017.10:g.19937884_20102374del	VUS	1 lab	ace7c1cc81
19:50812324 MYH14 G>A	19	50812324	50812324	G	A	MYH14	c.5850G>A	NM_001145809.2	NP_001139281.1:p.(Glu1950=)	NC_000019.9:g.50812324G>A	(Likely) benign	1 lab	ace8f44b71
2:166912981 SCN1A A>G	2	166912981	166912981	A	G	SCN1A	c.413T>C	NM_001165963.4	NP_001159435.1:p.(Ile138Thr)	NC_000002.11:g.166912981A>G	(Likely) pathogenic	1 lab	acee1daff2
2:44040355 ABCG5 C>G	2	44040355	44040355	C	G	ABCG5	c.1856G>C	NM_022436.3	NP_071881.1:p.(Arg619Thr)	NC_000002.11:g.44040355C>G	VUS	1 lab	acee27149a
11:19259009 E2F8 T>G	11	19259009	19259009	T	G	E2F8	c.303A>C	NM_024680.4	NP_078956.2:p.(Leu101Phe)	NC_000011.9:g.19259009T>G	(Likely) benign	1 lab	acf148f2d2
1:6535274 PLEKHG5 T>C	1	6535274	6535274	T	C	PLEKHG5	c.211-76A>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6535274T>C	(Likely) benign	1 lab	acfc18a0a3
2:212704493 ERBB4 Ref too long to show for this DEL>T	2	212704493	212714720	Ref too long to show for this DEL	T	ERBB4	c.422-61835_422-51610del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212704495_212714720del	VUS	1 lab	acff3ae7b1
1:45293090 PTCH2 G>A	1	45293090	45293090	G	A	PTCH2	c.2355C>T	NM_003738.5	NP_003729.3:p.(Tyr785=)	NC_000001.10:g.45293090G>A	(Likely) benign	1 lab	ad0063b38b
8:19810986 LPL TGAGA>T	8	19810986	19810994	TGAGA	T	LPL	c.541+59_541+62del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810991_19810994del	(Likely) benign	1 lab	ad0088f0fa
16:29580019 MISSING Ref too long to show for this DEL>T	16	29580019	30190029	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29580020_30190029del	(Likely) pathogenic	1 lab	ad054f4209
2:179655539 TTN T>C	2	179655539	179655539	T	C	TTN	c.1696A>G	NM_001267550.2	NP_001254479.2:p.(Met566Val)	NC_000002.11:g.179655539T>C	VUS	1 lab	ad05a1d0f9
10:26825151 APBB1IP GAA>G	10	26825151	26825167	GAA	G	APBB1IP	c.1044+20_1044+21del	NM_019043.4	NP_061916.3:p.?	NC_000010.10:g.26825166_26825167del	(Likely) benign	1 lab	ad204ffa21
2:241725734 KIF1A G>A	2	241725734	241725734	G	A	KIF1A	c.608+18C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241725734G>A	(Likely) benign	1 lab	ad07eeb96c
11:124972141 TMEM218 G>A	11	124972141	124972141	G	A	TMEM218	c.-4C>T	NM_001258243.3	NP_001245172.2:p.?	NC_000011.9:g.124972141G>A	(Likely) benign	1 lab	ad0a4cd375
9:35719119 TLN1 C>T	9	35719119	35719119	C	T	TLN1	c.1848G>A	NM_006289.4	NP_006280.3:p.(Ala616=)	NC_000009.11:g.35719119C>T	(Likely) benign	1 lab	ad0ab3ab33
5:1279590 TERT C>T	5	1279590	1279590	C	T	TERT	c.1951-5G>A	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1279590C>T	(Likely) benign	1 lab	ad0b7e79ab
12:56626573 SLC39A5 C>T	12	56626573	56626573	C	T	SLC39A5	c.388C>T	NM_173596.3	NP_775867.2:p.(Arg130Cys)	NC_000012.11:g.56626573C>T	(Likely) benign	1 lab	ad0ba51a15
1:148579636 NBPF15 T>C	1	148579636	148579636	T	C	NBPF15	c.206T>C	NM_001170755.3	NP_001164226.1:p.(Phe69Ser)	NC_000001.10:g.148579636T>C	(Likely) benign	1 lab	ad0bed7e5e
5:16483571 RETREG1 T>C	5	16483571	16483571	T	C	RETREG1	c.469A>G	NM_001034850.3	NP_001030022.1:p.(Ile157Val)	NC_000005.9:g.16483571T>C	VUS	1 lab	ad14a1fa22
9:34489391 DNAI1 TC>T	9	34489391	34489395	TC	T	DNAI1	c.336del	NM_012144.4	NP_036276.1:p.(Asp114ThrfsTer14)	NC_000009.11:g.34489395del	(Likely) pathogenic	1 lab	ad157424d9
20:34085622 CEP250 G>A	20	34085622	34085622	G	A	CEP250	c.3381G>A	NM_007186.6	NP_009117.2:p.(Glu1127=)	NC_000020.10:g.34085622G>A	(Likely) benign	1 lab	ad1792b223
13:40254167 COG6 T>TA	13	40254167	40254168	T	TA	COG6	c.680dup	NM_001145079.2	NP_001138551.1:p.(Tyr227Ter)	NC_000013.10:g.40254168dup	(Likely) pathogenic	1 lab	ad1ab144bb
15:58837910 LIPC T>C	15	58837910	58837910	T	C	LIPC	c.575-31T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837910T>C	(Likely) benign	1 lab	ad1b23f894
17:48269925 COL1A1 G>T	17	48269925	48269925	G	T	COL1A1	c.1930-36C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269925G>T	(Likely) benign	1 lab	ad1d0d8aeb
2:199167845 MISSING C>Alt too long to show for this DUP	2	199167845	199297343	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.199167849_199297343dup	VUS	1 lab	ad2101c961
2:44100928 ABCG8 G>A	2	44100928	44100928	G	A	ABCG8	c.1214G>A	NM_022437.3	NP_071882.1:p.(Arg405His)	NC_000002.11:g.44100928G>A	(Likely) pathogenic	1 lab	ad21f8c916
16:2106225 TSC2 G>A	16	2106225	2106225	G	A	TSC2	c.628G>A	NM_000548.5	NP_000539.2:p.(Ala210Thr)	NC_000016.9:g.2106225G>A	(Likely) benign	1 lab	ad23b0fa0f
13:41766402 KBTBD7 A>G	13	41766402	41766402	A	G	KBTBD7	c.1992T>C	NM_032138.7	NP_115514.2:p.(Asp664=)	NC_000013.10:g.41766402A>G	(Likely) benign	1 lab	ad2419be89
8:92346523 SLC26A7 A>G	8	92346523	92346523	A	G	SLC26A7	c.643A>G	NM_001282356.2	NP_001269285.1:p.(Ile215Val)	NC_000008.10:g.92346523A>G	(Likely) benign	1 lab	ad25666e06
12:49374353 WNT1 G>A	12	49374353	49374353	G	A	WNT1	c.505G>A	NM_005430.4	NP_005421.1:p.(Gly169Ser)	NC_000012.11:g.49374353G>A	VUS	1 lab	ad26472b46
16:46741694 MYLK3 T>G	16	46741694	46741694	T	G	MYLK3	c.2401-19A>C	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46741694T>G	(Likely) benign	1 lab	ad270aaccc
9:113189954 SVEP1 T>G	9	113189954	113189954	T	G	SVEP1	c.5892A>C	NM_153366.4	NP_699197.3:p.(Gly1964=)	NC_000009.11:g.113189954T>G	(Likely) benign	1 lab	ad2786a249
10:102768594 PDZD7 A>G	10	102768594	102768594	A	G	PDZD7	c.2732T>C	NM_001195263.2	NP_001182192.1:p.(Leu911Pro)	NC_000010.10:g.102768594A>G	(Likely) benign	1 lab	ad296335d0
11:45935509 PEX16 T>C	11	45935509	45935509	T	C	PEX16	c.768-20A>G	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45935509T>C	(Likely) benign	1 lab	ad2a29274f
11:1018321 MUC6 C>T	11	1018321	1018321	C	T	MUC6	c.4480G>A	NM_005961.3	NP_005952.2:p.(Gly1494Arg)	NC_000011.9:g.1018321C>T	(Likely) benign	1 lab	ad2c031a67
2:21245744 APOB G>A	2	21245744	21245744	G	A	APOB	c.2775C>T	NM_000384.3	NP_000375.3:p.(Ile925=)	NC_000002.11:g.21245744G>A	(Likely) benign	1 lab	ad2c98628b
16:31195280 FUS C>A	16	31195280	31195280	C	A	FUS	c.292C>A	NM_004960.4	NP_004951.1:p.(Pro98Thr)	NC_000016.9:g.31195280C>A	VUS	1 lab	ad2fe0048d
12:2760796 CACNA1C C>T	12	2760796	2760796	C	T	CACNA1C	c.4002C>T	NM_001129829.2	NP_001123301.1:p.(Asp1334=)	NC_000012.11:g.2760796C>T	(Likely) benign	1 lab	ad2ff20d06
12:2795024 CACNA1C G>A	12	2795024	2795024	G	A	CACNA1C	c.5929+16G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2795024G>A	(Likely) benign	1 lab	ad31b69813
X:70443631 GJB1 T>C	X	70443631	70443631	T	C	GJB1	c.74T>C	NM_000166.6	NP_000157.1:p.(Leu25Pro)	NC_000023.10:g.70443631T>C	(Likely) pathogenic	1 lab	ad31bae9d6
5:149276077 PDE6A A>G	5	149276077	149276077	A	G	PDE6A	c.1474-12T>C	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149276077A>G	(Likely) benign	1 lab	ad340e0404
19:50339573 MED25 C>T	19	50339573	50339573	C	T	MED25	c.2056C>T	NM_001378355.1	NP_001365284.1:p.(Leu686=)	NC_000019.9:g.50339573C>T	(Likely) benign	1 lab	ad350d7a61
16:9916123 GRIN2A C>T	16	9916123	9916123	C	T	GRIN2A	c.2166G>A	NM_001134407.3	NP_001127879.1:p.(Thr722=)	NC_000016.9:g.9916123C>T	(Likely) benign	1 lab	ad3634cc8d
22:37159959 IFT27 G>A	22	37159959	37159959	G	A	IFT27	c.352+4C>T	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37159959G>A	(Likely) benign	1 lab	ad366aeb55
16:58577335 CNOT1 G>A	16	58577335	58577335	G	A	CNOT1	c.4610C>T	NM_206999.3	NP_996882.1:p.(Ser1537Phe)	NC_000016.9:g.58577335G>A	(Likely) benign	1 lab	ad36f1ead4
5:148406660 SH3TC2 T>C	5	148406660	148406660	T	C	SH3TC2	c.2635A>G	NM_024577.4	NP_078853.2:p.(Met879Val)	NC_000005.9:g.148406660T>C	VUS	1 lab	ad371f8299
2:179466463 TTN A>G	2	179466463	179466463	A	G	TTN	c.55354T>C	NM_001267550.2	NP_001254479.2:p.(Ser18452Pro)	NC_000002.11:g.179466463A>G	VUS	1 lab	ad3948b2c7
9:107593264 ABCA1 C>T	9	107593264	107593264	C	T	ABCA1	c.1834G>A	NM_005502.4	NP_005493.2:p.(Glu612Lys)	NC_000009.11:g.107593264C>T	(Likely) benign	1 lab	ad3a57b422
7:95203993 MISSING C>Alt too long to show for this DUP	7	95203993	95879789	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.95203994_95879789dup	VUS	1 lab	ad3b4b1d18
16:2813316 SRRM2 C>T	16	2813316	2813316	C	T	SRRM2	c.2787C>T	NM_016333.4	NP_057417.3:p.(Ser929=)	NC_000016.9:g.2813316C>T	(Likely) benign	1 lab	ad3b5159ea
5:127670997 FBN2 C>A	5	127670997	127670997	C	A	FBN2	c.3848-10G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127670997C>A	(Likely) benign	1 lab	ad3b99f515
15:43678542 TUBGCP4 C>CATATATATAT	15	43678542	43678543	C	CATATATATAT	TUBGCP4	c.1014+14_1014+15insATATATATAT	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43678542_43678543insATATATATAT	(Likely) benign	1 lab	ad40468530
19:45411832 APOE A>C	19	45411832	45411832	A	C	APOE	c.357A>C	NM_001302688.2	NP_001289617.1:p.(Lys119Asn)	NC_000019.9:g.45411832A>C	VUS	1 lab	ad41896e67
7:150648559 KCNH2 G>C	7	150648559	150648559	G	C	KCNH2	c.1922C>G	NM_000238.4	NP_000229.1:p.(Ser641Cys)	NC_000007.13:g.150648559G>C	(Likely) pathogenic	1 lab	ad41ca50a4
15:73004583 BBS4 A>G	15	73004583	73004583	A	G	BBS4	c.157-2A>G	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73004583A>G	(Likely) pathogenic	1 lab	ad42fd92a8
4:46413000 MISSING T>Alt too long to show for this DUP	4	46413000	47002177	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.46413001_47002177dup	VUS	1 lab	ad4a65b5b1
11:68174236 LRP5 T>C	11	68174236	68174236	T	C	LRP5	c.303T>C	NM_001291902.2	NP_001278831.1:p.(Phe101=)	NC_000011.9:g.68174236T>C	(Likely) benign	1 lab	ad4a866424
1:185878632 HMCN1 A>G	1	185878632	185878632	A	G	HMCN1	c.785A>G	NM_031935.3	NP_114141.2:p.(Asn262Ser)	NC_000001.10:g.185878632A>G	(Likely) benign	1 lab	ad51df5d9d
19:33444620 CEP89 A>G	19	33444620	33444620	A	G	CEP89	c.393T>C	NM_032816.5	NP_116205.3:p.(Thr131=)	NC_000019.9:g.33444620A>G	(Likely) benign	1 lab	ad53288040
2:71780963 DYSF G>A	2	71780963	71780963	G	A	DYSF	c.2008G>A	NM_001130981.2	NP_001124453.1:p.(Gly670Ser)	NC_000002.11:g.71780963G>A	VUS	1 lab	ad53d15cf1
10:90984872 LIPA G>C	10	90984872	90984872	G	C	LIPA	c.652C>G	NM_000235.4	NP_000226.2:p.(Arg218Gly)	NC_000010.10:g.90984872G>C	VUS	1 lab	ad55bebbe9
6:112575212 LAMA4 C>T	6	112575212	112575212	C	T	LAMA4	c.141G>A	NM_001105206.3	NP_001098676.2:p.(Pro47=)	NC_000006.11:g.112575212C>T	(Likely) benign	1 lab	ad55edb8ec
4:55143562 PDGFRA C>T	4	55143562	55143562	C	T	PDGFRA	c.1794C>T	NM_006206.6	NP_006197.1:p.(Val598=)	NC_000004.11:g.55143562C>T	(Likely) benign	1 lab	ad57236cf7
16:86601180 FOXC2 T>G	16	86601180	86601180	T	G	FOXC2	c.239T>G	NM_005251.3	NP_005242.1:p.(Leu80Arg)	NC_000016.9:g.86601180T>G	(Likely) pathogenic	1 lab	ad5843554d
4:186173288 MISSING Ref too long to show for this DEL>T	4	186173288	186315844	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.186173291_186315844del	VUS	1 lab	ad5dda0de0
6:35473796 TULP1 A>G	6	35473796	35473796	A	G	TULP1	c.983T>C	NM_003322.6	NP_003313.3:p.(Leu328Pro)	NC_000006.11:g.35473796A>G	VUS	1 lab	ad5ee39bae
5:127704558 FBN2 G>A	5	127704558	127704558	G	A	FBN2	c.2248+317C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127704558G>A	(Likely) benign	1 lab	ad60ceeec8
17:59820452 BRIP1 C>G	17	59820452	59820452	C	G	BRIP1	c.2301G>C	NM_032043.3	NP_114432.2:p.(Glu767Asp)	NC_000017.10:g.59820452C>G	VUS	1 lab	ad6565342d
1:12061479 MFN2 C>T	1	12061479	12061479	C	T	MFN2	c.838C>T	NM_014874.4	NP_055689.1:p.(Arg280Cys)	NC_000001.10:g.12061479C>T	(Likely) pathogenic	1 lab	ad723e6187
9:131336978 SPTAN1 C>A	9	131336978	131336978	C	A	SPTAN1	c.388C>A	NM_001363759.2	NP_001350688.1:p.(Gln130Lys)	NC_000009.11:g.131336978C>A	VUS	1 lab	ad74733b17
7:69548217 AUTS2 Ref too long to show for this DEL>A	7	69548217	69566371	Ref too long to show for this DEL	A	AUTS2	c.523-34900_523-16747del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69548218_69566371del	VUS	1 lab	ad75032953
7:154384208 DPP6 T>Alt too long to show for this DUP	7	154384208	154402859	T	Alt too long to show for this DUP	DPP6	c.628-45322_628-26672dup	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154384209_154402859dup	VUS	1 lab	ad757b5177
2:166025322 SCN3A G>A	2	166025322	166025322	G	A	SCN3A	c.397C>T	NM_006922.4	NP_008853.3:p.(Leu133Phe)	NC_000002.11:g.166025322G>A	(Likely) benign	1 lab	ad75bf8fce
2:27707923 IFT172 A>G	2	27707923	27707923	A	G	IFT172	c.258T>C	NM_015662.3	NP_056477.1:p.(Thr86=)	NC_000002.11:g.27707923A>G	(Likely) benign	1 lab	ad7829be91
17:78176201 CARD14 C>T	17	78176201	78176201	C	T	CARD14	c.2201C>T	NM_001366385.1	NP_001353314.1:p.(Thr734Ile)	NC_000017.10:g.78176201C>T	VUS	1 lab	ad79252e85
14:23898260 MYH7 G>T	14	23898260	23898260	G	T	MYH7	c.1311C>A	NM_000257.4	NP_000248.2:p.(Asn437Lys)	NC_000014.8:g.23898260G>T	VUS	1 lab	ad79387587
3:170218950 SLC7A14 G>T	3	170218950	170218950	G	T	SLC7A14	c.489C>A	NM_020949.3	NP_066000.2:p.(Asn163Lys)	NC_000003.11:g.170218950G>T	VUS	1 lab	ad79f1435c
3:87289878 CHMP2B C>T	3	87289878	87289878	C	T	CHMP2B	c.64C>T	NM_014043.4	NP_054762.2:p.(Arg22Ter)	NC_000003.11:g.87289878C>T	(Likely) pathogenic	1 lab	ad79f1e036
2:15674779 NBAS G>A	2	15674779	15674779	G	A	NBAS	c.648-14C>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15674779G>A	(Likely) benign	1 lab	ad80a9ebfd
15:22770420 MISSING Ref too long to show for this DEL>A	15	22770420	23209569	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770423_23209569del	(Likely) pathogenic	1 lab	ad8529a1ee
11:47357525 MYBPC3 G>A	11	47357525	47357525	G	A	MYBPC3	c.2640C>T	NM_000256.3	NP_000247.2:p.(Asp880=)	NC_000011.9:g.47357525G>A	(Likely) benign	1 lab	ad86f11e5b
12:124383312 DNAH10 C>T	12	124383312	124383312	C	T	DNAH10	c.9237C>T	NM_207437.3	NP_997320.2:p.(Ser3079=)	NC_000012.11:g.124383312C>T	(Likely) benign	1 lab	ad87626b4d
16:1020363 LMF1 C>T	16	1020363	1020363	C	T	LMF1	c.-362+10782G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020363C>T	(Likely) benign	1 lab	ad891ad41d
12:117968786 KSR2 C>T	12	117968786	117968786	C	T	KSR2	c.1762G>A	NM_173598.6	NP_775869.4:p.(Ala588Thr)	NC_000012.11:g.117968786C>T	VUS	1 lab	ad8b7850cd
8:133910395 TG C>T	8	133910395	133910395	C	T	TG	c.3140-19C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133910395C>T	(Likely) benign	1 lab	ad8be629f1
17:14077818 MISSING Ref too long to show for this DEL>T	17	14077818	15473313	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14077820_15473313del	(Likely) pathogenic	1 lab	ad8c0f7a20
9:107602342 ABCA1 T>G	9	107602342	107602342	T	G	ABCA1	c.1054+218A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107602342T>G	(Likely) benign	1 lab	ad919b98f6
1:12069798 MFN2 T>C	1	12069798	12069798	T	C	MFN2	c.2204+15T>C	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12069798T>C	(Likely) benign	1 lab	ad92d8e438
X:47085991 CDK16 G>A	X	47085991	47085991	G	A	CDK16	c.944G>A	NM_033018.4	NP_148978.2:p.(Arg315Gln)	NC_000023.10:g.47085991G>A	VUS	1 lab	ad93f8ef15
10:112572369 RBM20 G>A	10	112572369	112572369	G	A	RBM20	c.2214G>A	NM_001134363.3	NP_001127835.2:p.(Pro738=)	NC_000010.10:g.112572369G>A	(Likely) benign	1 lab	ad9c055634
2:96931082 TMEM127 C>T	2	96931082	96931082	C	T	TMEM127	c.38G>A	NM_017849.4	NP_060319.1:p.(Arg13His)	NC_000002.11:g.96931082C>T	(Likely) benign	1 lab	ad9cbf5473
16:88499702 ZNF469 G>A	16	88499702	88499702	G	A	ZNF469	c.5824G>A	NM_001367624.2	NP_001354553.1:p.(Gly1942Arg)	NC_000016.9:g.88499702G>A	(Likely) benign	1 lab	ad9d548f21
2:25046216 ADCY3 A>G	2	25046216	25046216	A	G	ADCY3	c.2811T>C	NM_001377128.1	NP_001364057.1:p.(Tyr937=)	NC_000002.11:g.25046216A>G	(Likely) benign	1 lab	ad9df0d7ee
16:70305681 AARS1 T>C	16	70305681	70305681	T	C	AARS1	c.671+3A>G	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70305681T>C	(Likely) benign	1 lab	ada3cc7143
5:141052986 ARAP3 C>T	5	141052986	141052986	C	T	ARAP3	c.954G>A	NM_022481.6	NP_071926.4:p.(Met318Ile)	NC_000005.9:g.141052986C>T	(Likely) benign	1 lab	adaa4892da
2:21233880 APOB G>A	2	21233880	21233880	G	A	APOB	c.5860C>T	NM_000384.3	NP_000375.3:p.(Leu1954Phe)	NC_000002.11:g.21233880G>A	(Likely) benign	1 lab	adac45f212
1:12058865 MFN2 T>C	1	12058865	12058865	T	C	MFN2	c.638T>C	NM_014874.4	NP_055689.1:p.(Ile213Thr)	NC_000001.10:g.12058865T>C	(Likely) pathogenic	1 lab	adac922d50
11:108178712 ATM G>A	11	108178712	108178712	G	A	ATM	c.5762+1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108178712G>A	(Likely) pathogenic	1 lab	adadd09a6f
8:19610843 MISSING T>Alt too long to show for this DUP	8	19610843	20165020	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.19610844_20165020dup	VUS	1 lab	adae77114b
2:21234603 APOB C>A	2	21234603	21234603	C	A	APOB	c.5137G>T	NM_000384.3	NP_000375.3:p.(Ala1713Ser)	NC_000002.11:g.21234603C>A	(Likely) benign	1 lab	adafc4ded3
9:139325568 INPP5E C>A	9	139325568	139325568	C	A	INPP5E	c.1551G>T	NM_019892.6	NP_063945.2:p.(Gly517=)	NC_000009.11:g.139325568C>A	(Likely) benign	1 lab	adb004ddb7
17:4936750 SLC52A1 C>T	17	4936750	4936750	C	T	SLC52A1	c.1010+24G>A	NM_001104577.2	NP_001098047.1:p.?	NC_000017.10:g.4936750C>T	(Likely) benign	1 lab	adb9bf889e
X:127144317 MISSING Ref too long to show for this DEL>A	X	127144317	127232028	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.127144319_127232028del	VUS	1 lab	adbc700eb9
5:112175373 APC C>T	5	112175373	112175373	C	T	APC	c.4082C>T	NM_000038.6	NP_000029.2:p.(Pro1361Leu)	NC_000005.9:g.112175373C>T	VUS	1 lab	adbe62a8be
4:52935998 SPATA18 C>T	4	52935998	52935998	C	T	SPATA18	c.434C>T	NM_145263.4	NP_660306.1:p.(Thr145Ile)	NC_000004.11:g.52935998C>T	(Likely) benign	1 lab	adc016b1c0
19:33878837 PEPD G>A	19	33878837	33878837	G	A	PEPD	c.1303C>T	NM_000285.4	NP_000276.2:p.(Leu435Phe)	NC_000019.9:g.33878837G>A	(Likely) benign	1 lab	adc229f31d
2:44078850 ABCG8 C>T	2	44078850	44078850	C	T	ABCG8	c.450C>T	NM_022437.3	NP_071882.1:p.(His150=)	NC_000002.11:g.44078850C>T	(Likely) benign	1 lab	adc35898e1
8:19819697 LPL G>A	8	19819697	19819697	G	A	LPL	c.1394G>A	NM_000237.3	NP_000228.1:p.(Cys465Tyr)	NC_000008.10:g.19819697G>A	(Likely) pathogenic	1 lab	adc54bfddc
2:156501843 MISSING Ref too long to show for this DEL>T	2	156501843	160335400	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.156501844_160335400del	(Likely) pathogenic	1 lab	adc72281d4
2:79767454 CTNNA2 Ref too long to show for this DEL>A	2	79767454	79804184	Ref too long to show for this DEL	A	CTNNA2	c.-6+27122_-6+63851del	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.79767455_79804184del	VUS	1 lab	adc79bca20
22:50905086 SBF1 G>A	22	50905086	50905086	G	A	SBF1	c.603C>T	NM_002972.4	NP_002963.2:p.(Ala201=)	NC_000022.10:g.50905086G>A	(Likely) benign	1 lab	adcce8e2db
11:31815006 PAX6 C>T	11	31815006	31815006	C	T	PAX6	c.604G>A	NM_001310160.2	NP_001297089.1:p.(Ala202Thr)	NC_000011.9:g.31815006C>T	VUS	1 lab	add342a0e1
16:81946188 PLCG2 G>T	16	81946188	81946188	G	T	PLCG2	c.1935-14G>T	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81946188G>T	(Likely) benign	1 lab	add3685756
X:95813565 MISSING G>Alt too long to show for this DUP	X	95813565	96306203	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.95813569_96306203dup	VUS	1 lab	adda94fbd0
5:82816503 VCAN T>C	5	82816503	82816503	T	C	VCAN	c.2378T>C	NM_004385.5	NP_004376.2:p.(Leu793Ser)	NC_000005.9:g.82816503T>C	(Likely) benign	1 lab	addcebe643
9:107602231 ABCA1 G>T	9	107602231	107602231	G	T	ABCA1	c.1054+329C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107602231G>T	(Likely) benign	1 lab	addd1e146b
11:47361400 MYBPC3 T>C	11	47361400	47361400	T	C	MYBPC3	c.1928-59A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361400T>C	(Likely) benign	1 lab	adde0a1282
15:73615491 HCN4 C>T	15	73615491	73615491	C	T	HCN4	c.2943G>A	NM_005477.3	NP_005468.1:p.(Glu981=)	NC_000015.9:g.73615491C>T	(Likely) benign	1 lab	ade08c7311
3:49694765 BSN G>C	3	49694765	49694765	G	C	BSN	c.7776G>C	NM_003458.4	NP_003449.2:p.(Gly2592=)	NC_000003.11:g.49694765G>C	(Likely) benign	1 lab	ade25f41a4
17:41347074 MISSING Ref too long to show for this DEL>T	17	41347074	41399645	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.41347076_41399645del	VUS	1 lab	ade56bb554
6:112575327 LAMA4 G>A	6	112575327	112575327	G	A	LAMA4	c.26C>T	NM_002290.5	NP_002281.3:p.(Ser9Leu)	NC_000006.11:g.112575327G>A	VUS	1 lab	ade6d66b77
9:35077267 FANCG G>A	9	35077267	35077267	G	A	FANCG	c.640C>T	NM_004629.2	NP_004620.1:p.(Arg214Cys)	NC_000009.11:g.35077267G>A	(Likely) benign	1 lab	ade8a563e2
9:101911535 TGFBR1 G>A	9	101911535	101911535	G	A	TGFBR1	c.1460G>A	NM_004612.4	NP_004603.1:p.(Arg487Gln)	NC_000009.11:g.101911535G>A	(Likely) pathogenic	1 lab	ade9a21498
5:101376403 MISSING Ref too long to show for this DEL>G	5	101376403	101640292	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.101376404_101640292del	VUS	1 lab	adeb58f308
21:38884641 DYRK1A T>A	21	38884641	38884641	T	A	DYRK1A	c.2099T>A	NM_001396.5	NP_001387.2:p.(Val700Asp)	NC_000021.8:g.38884641T>A	VUS	1 lab	adebcc56cd
6:56346914 DST G>C	6	56346914	56346914	G	C	DST	c.15108C>G	NM_001144769.5	NP_001138241.1:p.(Thr5036=)	NC_000006.11:g.56346914G>C	(Likely) benign	1 lab	adebedd3fb
19:40900141 PRX C>T	19	40900141	40900141	C	T	PRX	c.4118G>A	NM_181882.3	NP_870998.2:p.(Arg1373Gln)	NC_000019.9:g.40900141C>T	VUS	1 lab	adecbfee42
X:70360679 MED12 GGCA>G	X	70360679	70360698	GGCA	G	MED12	c.6256_6258del	NM_005120.3	NP_005111.2:p.(Gln2086del)	NC_000023.10:g.70360696_70360698del	(Likely) benign	1 lab	adf006e052
10:89623699 PTEN T>C	10	89623699	89623699	T	C	PTEN	c.-528T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623699T>C	(Likely) benign	1 lab	adf071b5a8
11:116661439 APOA5 G>C	11	116661439	116661439	G	C	APOA5	c.506C>G	NM_052968.5	NP_443200.2:p.(Ala169Gly)	NC_000011.9:g.116661439G>C	VUS	1 lab	adf07f1443
1:74929141 TNNI3K C>T	1	74929141	74929141	C	T	TNNI3K	c.2028C>T	NM_015978.3	NP_057062.1:p.(Asp676=)	NC_000001.10:g.74929141C>T	(Likely) benign	1 lab	adf4938741
19:17068695 CPAMD8 G>A	19	17068695	17068695	G	A	CPAMD8	c.2244C>T	NM_015692.5	NP_056507.3:p.(Pro748=)	NC_000019.9:g.17068695G>A	(Likely) benign	1 lab	adf5df9890
22:40042617 CACNA1I C>A	22	40042617	40042617	C	A	CACNA1I	c.1193C>A	NM_021096.4	NP_066919.2:p.(Ala398Glu)	NC_000022.10:g.40042617C>A	(Likely) pathogenic	1 lab	adf624ae62
5:180045917 FLT4 TCTC>T	5	180045917	180045922	TCTC	T	FLT4	c.2851_2853del	NM_182925.5	NP_891555.2:p.(Glu951del)	NC_000005.9:g.180045920_180045922del	VUS	1 lab	adf87ee178
17:8386718 MISSING T>Alt too long to show for this DUP	17	8386718	8992425	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8386720_8992425dup	VUS	1 lab	adf8872574
2:21233638 APOB G>A	2	21233638	21233638	G	A	APOB	c.6102C>T	NM_000384.3	NP_000375.3:p.(Ile2034=)	NC_000002.11:g.21233638G>A	(Likely) benign	1 lab	adf9df3748
2:179425296 TTN A>G	2	179425296	179425296	A	G	TTN	c.85563T>C	NM_001267550.2	NP_001254479.2:p.(Tyr28521=)	NC_000002.11:g.179425296A>G	(Likely) benign	1 lab	adfbae73a0
9:80885780 CEP78 A>T	9	80885780	80885780	A	T	CEP78	c.*13A>T	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80885780A>T	(Likely) benign	1 lab	adfe461ac8
1:156851437 NTRK1 G>A	1	156851437	156851437	G	A	NTRK1	c.*3G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156851437G>A	(Likely) benign	1 lab	adff375cc6
12:110236508 TRPV4 G>A	12	110236508	110236508	G	A	TRPV4	c.1063C>T	NM_021625.5	NP_067638.3:p.(Arg355Cys)	NC_000012.11:g.110236508G>A	VUS	1 lab	ae001cf720
11:102207520 BIRC3 G>T	11	102207520	102207520	G	T	BIRC3	c.1609G>T	NM_001165.5	NP_001156.1:p.(Glu537Ter)	NC_000011.9:g.102207520G>T	(Likely) pathogenic	1 lab	ae02ec59e0
1:236958998 MTR G>C	1	236958998	236958998	G	C	MTR	c.-6G>C	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236958998G>C	(Likely) benign	1 lab	ae047753a8
2:179582270 TTN C>G	2	179582270	179582270	C	G	TTN	c.25331G>C	NM_001267550.2	NP_001254479.2:p.(Ser8444Thr)	NC_000002.11:g.179582270C>G	VUS	1 lab	ae2266b9cf
1:236917380 ACTN2 A>T	1	236917380	236917380	A	T	ACTN2	c.1973A>T	NM_001103.4	NP_001094.1:p.(Glu658Val)	NC_000001.10:g.236917380A>T	VUS	1 lab	ae0590057b
9:107591398 ABCA1 C>G	9	107591398	107591398	C	G	ABCA1	c.1914G>C	NM_005502.4	NP_005493.2:p.(Arg638=)	NC_000009.11:g.107591398C>G	(Likely) benign	1 lab	ae0c677113
7:151267266 PRKAG2 G>A	7	151267266	151267266	G	A	PRKAG2	c.1097C>T	NM_016203.4	NP_057287.2:p.(Pro366Leu)	NC_000007.13:g.151267266G>A	VUS	1 lab	ae0e8213dd
16:57007413 CETP C>T	16	57007413	57007413	C	T	CETP	c.921C>T	NM_000078.3	NP_000069.2:p.(Asp307=)	NC_000016.9:g.57007413C>T	(Likely) benign	1 lab	ae0f5344b9
17:15163966 PMP22 C>A	17	15163966	15163966	C	A	PMP22	c.78+1G>T	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15163966C>A	(Likely) pathogenic	1 lab	ae1199c8a2
14:102476663 DYNC1H1 G>A	14	102476663	102476663	G	A	DYNC1H1	c.6272G>A	NM_001376.5	NP_001367.2:p.(Arg2091Gln)	NC_000014.8:g.102476663G>A	(Likely) pathogenic	1 lab	ae11cec3b8
19:45682978 BLOC1S3 C>T	19	45682978	45682978	C	T	BLOC1S3	c.424C>T	NM_212550.5	NP_997715.1:p.(Leu142=)	NC_000019.9:g.45682978C>T	(Likely) benign	1 lab	ae148f08ab
13:32932083 BRCA2 G>A	13	32932083	32932083	G	A	BRCA2	c.7805+17G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32932083G>A	(Likely) benign	1 lab	ae158a4b1f
11:116661710 APOA5 C>T	11	116661710	116661710	C	T	APOA5	c.235G>A	NM_052968.5	NP_443200.2:p.(Gly79Arg)	NC_000011.9:g.116661710C>T	(Likely) benign	1 lab	ae164716b7
7:35189891 DPY19L2P1 TAA>T	7	35189891	35189904	TAA	T	DPY19L2P1	n.909-7_909-6del	NR_002833.2		NC_000007.13:g.35189903_35189904del	(Likely) benign	1 lab	ae1969081c
2:219679313 CYP27A1 G>C	2	219679313	219679313	G	C	CYP27A1	c.1309G>C	NM_000784.4	NP_000775.1:p.(Ala437Pro)	NC_000002.11:g.219679313G>C	VUS	1 lab	ae1cb73f61
8:19809367 LPL T>C	8	19809367	19809367	T	C	LPL	c.337T>C	NM_000237.3	NP_000228.1:p.(Trp113Arg)	NC_000008.10:g.19809367T>C	(Likely) pathogenic	1 lab	ae202e3d40
22:31334085 MORC2 T>C	22	31334085	31334085	T	C	MORC2	c.995A>G	NM_014941.3	NP_055756.1:p.(Tyr332Cys)	NC_000022.10:g.31334085T>C	VUS	1 lab	ae227dbbce
3:37785454 ITGA9 G>A	3	37785454	37785454	G	A	ITGA9	c.2362G>A	NM_002207.3	NP_002198.2:p.(Val788Met)	NC_000003.11:g.37785454G>A	(Likely) benign	1 lab	ae25b47393
1:150310701 PRPF3 G>A	1	150310701	150310701	G	A	PRPF3	c.1101G>A	NM_004698.4	NP_004689.1:p.(Ser367=)	NC_000001.10:g.150310701G>A	(Likely) benign	1 lab	ae272f4f3f
16:904615 LMF1 C>T	16	904615	904615	C	T	LMF1	c.1222G>A	NM_001352018.2	NP_001338947.1:p.(Gly408Arg)	NC_000016.9:g.904615C>T	VUS	1 lab	ae2738b9e2
1:156848909 NTRK1 CA>C	1	156848909	156848910	CA	C	NTRK1	c.1806-4del	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156848910del	(Likely) benign	1 lab	ae29215efe
12:122263248 SETD1B C>T	12	122263248	122263248	C	T	SETD1B	c.5313C>T	NM_001353345.2	NP_001340274.1:p.(Thr1771=)	NC_000012.11:g.122263248C>T	(Likely) benign	1 lab	ae2b713172
2:44102509 ABCG8 C>T	2	44102509	44102509	C	T	ABCG8	c.1713C>T	NM_022437.3	NP_071882.1:p.(Tyr571=)	NC_000002.11:g.44102509C>T	(Likely) benign	1 lab	ae2cd7c691
1:237758926 RYR2 C>T	1	237758926	237758926	C	T	RYR2	c.4565C>T	NM_001035.3	NP_001026.2:p.(Ala1522Val)	NC_000001.10:g.237758926C>T	VUS	1 lab	ae2e3a3dac
9:109773180 ZNF462 C>T	9	109773180	109773180	C	T	ZNF462	c.7390C>T	NM_021224.6	NP_067047.4:p.(Pro2464Ser)	NC_000009.11:g.109773180C>T	(Likely) benign	1 lab	ae320d1dcc
7:154672646 DPP6 T>C	7	154672646	154672646	T	C	DPP6	c.2127T>C	NM_130797.4	NP_570629.2:p.(Phe709=)	NC_000007.13:g.154672646T>C	(Likely) benign	1 lab	ae335728dd
13:77570279 CLN5 T>C	13	77570279	77570279	T	C	CLN5	c.565+17T>C	NM_006493.4	NP_006484.2:p.?	NC_000013.10:g.77570279T>C	(Likely) benign	1 lab	ae33939b70
11:128781907 KCNJ5 G>A	11	128781907	128781907	G	A	KCNJ5	c.739G>A	NM_001354169.2	NP_001341098.1:p.(Gly247Arg)	NC_000011.9:g.128781907G>A	VUS	1 lab	ae33b53554
6:123600184 TRDN G>A	6	123600184	123600184	G	A	TRDN	c.1537+17C>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123600184G>A	(Likely) benign	1 lab	ae343cf034
6:107070677 RTN4IP1 G>A	6	107070677	107070677	G	A	RTN4IP1	c.426+16C>T	NM_032730.5	NP_116119.2:p.?	NC_000006.11:g.107070677G>A	(Likely) benign	1 lab	ae37fa509a
7:153750167 DPP6 C>CG	7	153750167	153750173	C	CG	DPP6	c.243+25dup	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.153750173dup	(Likely) benign	1 lab	ae3824519f
11:118516274 PHLDB1 G>A	11	118516274	118516274	G	A	PHLDB1	c.3322G>A	NM_001144758.3	NP_001138230.1:p.(Ala1108Thr)	NC_000011.9:g.118516274G>A	(Likely) benign	1 lab	ae3badac2c
15:73616174 HCN4 G>A	15	73616174	73616174	G	A	HCN4	c.2260C>T	NM_005477.3	NP_005468.1:p.(His754Tyr)	NC_000015.9:g.73616174G>A	VUS	1 lab	ae42bffeac
20:55702220 MISSING C>Alt too long to show for this DUP	20	55702220	55864750	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.55702222_55864750dup	VUS	1 lab	ae4991ce62
3:121413001 GOLGB1 T>C	3	121413001	121413001	T	C	GOLGB1	c.6252A>G	NM_001256487.2	NP_001243416.1:p.(Gln2084=)	NC_000003.11:g.121413001T>C	(Likely) benign	1 lab	ae4f46632d
6:116757557 DSE T>C	6	116757557	116757557	T	C	DSE	c.1926T>C	NM_013352.4	NP_037484.1:p.(Asn642=)	NC_000006.11:g.116757557T>C	(Likely) benign	1 lab	ae526d8b2d
22:50893057 SBF1 G>T	22	50893057	50893057	G	T	SBF1	c.4927C>A	NM_002972.4	NP_002963.2:p.(Pro1643Thr)	NC_000022.10:g.50893057G>T	(Likely) benign	1 lab	ae54334e3d
7:154680993 DPP6 A>T	7	154680993	154680993	A	T	DPP6	c.2316A>T	NM_130797.4	NP_570629.2:p.(Val772=)	NC_000007.13:g.154680993A>T	(Likely) benign	1 lab	ae55655e1c
2:36816858 MISSING G>Alt too long to show for this DUP	2	36816858	36896854	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.36816859_36896854dup	VUS	1 lab	ae55b78cd6
15:48808479 FBN1 G>GA	15	48808479	48808481	G	GA	FBN1	c.1227dup	NM_000138.5	NP_000129.3:p.(Pro410SerfsTer42)	NC_000015.9:g.48808481dup	(Likely) pathogenic	1 lab	ae58904861
1:26386860 TRIM63 G>A	1	26386860	26386860	G	A	TRIM63	c.502-8C>T	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26386860G>A	(Likely) benign	1 lab	b1f7b2ca49
17:7916566 GUCY2D C>T	17	7916566	7916566	C	T	GUCY2D	c.2259C>T	NM_000180.4	NP_000171.1:p.(Pro753=)	NC_000017.10:g.7916566C>T	(Likely) benign	1 lab	ae5fd52179
19:1221272 STK11 G>A	19	1221272	1221272	G	A	STK11	c.795G>A	NM_000455.5	NP_000446.1:p.(Glu265=)	NC_000019.9:g.1221272G>A	(Likely) benign	1 lab	ae6243457f
2:21238279 APOB A>G	2	21238279	21238279	A	G	APOB	c.3471T>C	NM_000384.3	NP_000375.3:p.(Tyr1157=)	NC_000002.11:g.21238279A>G	(Likely) benign	1 lab	ae63dbefc8
2:241642214 MISSING C>Alt too long to show for this DUP	2	241642214	241678568	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.241642215_241678568dup	VUS	1 lab	ae64b4280d
7:108455140 MISSING Ref too long to show for this DEL>G	7	108455140	108552339	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.108455141_108552339del	VUS	1 lab	ae680d7226
5:127685067 FBN2 C>T	5	127685067	127685067	C	T	FBN2	c.2961G>A	NM_001999.4	NP_001990.2:p.(Thr987=)	NC_000005.9:g.127685067C>T	(Likely) benign	1 lab	ae68dc40ad
19:11215926 LDLR G>A	19	11215926	11215926	G	A	LDLR	c.344G>A	NM_000527.5	NP_000518.1:p.(Arg115His)	NC_000019.9:g.11215926G>A	VUS	1 lab	ae6dd1a5f3
16:3573221 CLUAP1 T>C	16	3573221	3573221	T	C	CLUAP1	c.777T>C	NM_015041.3	NP_055856.1:p.(Tyr259=)	NC_000016.9:g.3573221T>C	(Likely) benign	1 lab	ae6dd3e5e5
15:35083509 ACTC1 C>CCACA	15	35083509	35083510	C	CCACA	ACTC1	c.809-14_809-13insTGTG	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083510insCACA	(Likely) benign	1 lab	ae6fc249d1
22:50657722 TUBGCP6 G>A	22	50657722	50657722	G	A	TUBGCP6	c.4479C>T	NM_020461.4	NP_065194.3:p.(Ala1493=)	NC_000022.10:g.50657722G>A	(Likely) benign	1 lab	ae72b4fe33
3:50679180 MAPKAPK3 C>T	3	50679180	50679180	C	T	MAPKAPK3	c.402C>T	NM_001243926.2	NP_001230855.1:p.(Gly134=)	NC_000003.11:g.50679180C>T	(Likely) benign	1 lab	ae74d14a2b
3:53779832 CACNA1D T>G	3	53779832	53779832	T	G	CACNA1D	c.3175-18T>G	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53779832T>G	(Likely) benign	1 lab	ae7501bbde
8:57048523 MISSING A>Alt too long to show for this DUP	8	57048523	57720036	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.57048524_57720036dup	VUS	1 lab	ae75871c8b
11:92875857 MISSING Ref too long to show for this DEL>A	11	92875857	93115330	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.92875858_93115330del	VUS	1 lab	ae7688dbb4
10:94399656 KIF11 C>T	10	94399656	94399656	C	T	KIF11	c.2266C>T	NM_004523.4	NP_004514.2:p.(Gln756Ter)	NC_000010.10:g.94399656C>T	(Likely) pathogenic	1 lab	ae76e52abf
1:8690932 RERE Ref too long to show for this DEL>A	1	8690932	8707826	Ref too long to show for this DEL	A	RERE	c.325+8206_326-6494del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8690933_8707826del	VUS	1 lab	ae7ab1f99a
11:126310353 KIRREL3 C>T	11	126310353	126310353	C	T	KIRREL3	c.1344G>A	NM_032531.4	NP_115920.1:p.(Pro448=)	NC_000011.9:g.126310353C>T	(Likely) benign	1 lab	ae7f9b45c7
8:10470381 RP1L1 C>T	8	10470381	10470381	C	T	RP1L1	c.1227G>A	NM_178857.6	NP_849188.4:p.(Thr409=)	NC_000008.10:g.10470381C>T	(Likely) benign	1 lab	ae80e83d0d
11:823839 PNPLA2 C>T	11	823839	823839	C	T	PNPLA2	c.903C>T	NM_020376.4	NP_065109.1:p.(Pro301=)	NC_000011.9:g.823839C>T	(Likely) benign	1 lab	ae857fc6d7
13:32911711 BRCA2 G>A	13	32911711	32911711	G	A	BRCA2	c.3219G>A	NM_000059.4	NP_000050.3:p.(Gln1073=)	NC_000013.10:g.32911711G>A	(Likely) benign	1 lab	ae8bb661f0
12:41327568 CNTN1 T>A	12	41327568	41327568	T	A	CNTN1	c.873T>A	NM_001843.4	NP_001834.2:p.(Ser291=)	NC_000012.11:g.41327568T>A	(Likely) benign	1 lab	ae8c1ed4db
5:127654442 FBN2 T>C	5	127654442	127654442	T	C	FBN2	c.4594+129A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127654442T>C	(Likely) benign	1 lab	ae8c413b7a
1:161277139 MPZ A>G	1	161277139	161277139	A	G	MPZ	c.143T>C	NM_000530.8	NP_000521.2:p.(Leu48Pro)	NC_000001.10:g.161277139A>G	(Likely) pathogenic	1 lab	ae8ed3735d
2:238243387 COL6A3 G>A	2	238243387	238243387	G	A	COL6A3	c.9111C>T	NM_004369.4	NP_004360.2:p.(Asn3037=)	NC_000002.11:g.238243387G>A	(Likely) benign	1 lab	ae90d8c0e9
1:1747248 GNB1 T>G	1	1747248	1747248	T	G	GNB1	c.150A>C	NM_002074.5	NP_002065.1:p.(Thr50=)	NC_000001.10:g.1747248T>G	(Likely) benign	1 lab	ae947315ad
6:123576210 TRDN C>T	6	123576210	123576210	C	T	TRDN	c.1951+16G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123576210C>T	(Likely) benign	1 lab	ae95190fc6
10:121431833 BAG3 G>A	10	121431833	121431833	G	A	BAG3	c.574G>A	NM_004281.4	NP_004272.2:p.(Gly192Ser)	NC_000010.10:g.121431833G>A	VUS	1 lab	ae96183b8c
2:85360841 TCF7L1 G>A	2	85360841	85360841	G	A	TCF7L1	c.34G>A	NM_031283.3	NP_112573.1:p.(Gly12Ser)	NC_000002.11:g.85360841G>A	(Likely) benign	1 lab	ae983e3470
11:1651615 KRTAP5-5 A>G	11	1651615	1651615	A	G	KRTAP5-5	c.545A>G	NM_001001480.2	NP_001001480.2:p.(Tyr182Cys)	NC_000011.9:g.1651615A>G	(Likely) benign	1 lab	ae98d072e5
9:111673297 ELP1 A>G	9	111673297	111673297	A	G	ELP1	c.1353T>C	NM_003640.5	NP_003631.2:p.(Tyr451=)	NC_000009.11:g.111673297A>G	(Likely) benign	1 lab	ae9f61344d
19:15272533 NOTCH3 G>A	19	15272533	15272533	G	A	NOTCH3	c.5914-8C>T	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15272533G>A	(Likely) benign	1 lab	ae9f80a439
16:46771797 MYLK3 G>A	16	46771797	46771797	G	A	MYLK3	c.827C>T	NM_182493.3	NP_872299.2:p.(Pro276Leu)	NC_000016.9:g.46771797G>A	VUS	1 lab	ae9fe93133
9:137707829 COL5A1 C>CA	9	137707829	137707830	C	CA	COL5A1	c.4118dup	NM_000093.5	NP_000084.3:p.(Thr1374AspfsTer9)	NC_000009.11:g.137707830dup	(Likely) pathogenic	1 lab	aea244af71
15:31294573 TRPM1 G>C	15	31294573	31294573	G	C	TRPM1	c.4381C>G	NM_001252020.2	NP_001238949.1:p.(Arg1461Gly)	NC_000015.9:g.31294573G>C	(Likely) benign	1 lab	aea4b5fbcd
19:54631717 PRPF31 A>ATCCC	19	54631717	54631721	A	ATCCC	PRPF31	c.1114_1115insCTCC	NM_015629.4	NP_056444.3:p.(Arg372ProfsTer104)	NC_000019.9:g.54631720_54631721insCTCC	(Likely) pathogenic	1 lab	aea6e9034b
1:74929131 TNNI3K C>A	1	74929131	74929131	C	A	TNNI3K	c.2018C>A	NM_015978.3	NP_057062.1:p.(Ala673Glu)	NC_000001.10:g.74929131C>A	VUS	1 lab	aea6ebe36f
3:121516066 IQCB1 G>A	3	121516066	121516066	G	A	IQCB1	c.775C>T	NM_001023570.4	NP_001018864.2:p.(Arg259Cys)	NC_000003.11:g.121516066G>A	VUS	1 lab	aea8173be7
18:28672208 DSC2 G>T	18	28672208	28672208	G	T	DSC2	c.210C>A	NM_004949.5	NP_004940.1:p.(Asp70Glu)	NC_000018.9:g.28672208G>T	VUS	1 lab	aea869d339
11:47370459 MYBPC3 T>TTATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATAT	(Likely) benign	1 lab	aea881d647
1:156104586 LMNA A>G	1	156104586	156104586	A	G	LMNA	c.640-10A>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104586A>G	(Likely) pathogenic	1 lab	aea9cc05e6
2:179536731 TTN C>T	2	179536731	179536731	C	T	TTN	c.35194G>A	NM_001267550.2	NP_001254479.2:p.(Glu11732Lys)	NC_000002.11:g.179536731C>T	VUS	1 lab	aeaa4143a2
17:38449846 CDC6 T>C	17	38449846	38449846	T	C	CDC6	c.799T>C	NM_001254.4	NP_001245.1:p.(Leu267=)	NC_000017.10:g.38449846T>C	(Likely) benign	1 lab	aeaab31322
15:73615399 HCN4 C>G	15	73615399	73615399	C	G	HCN4	c.3035G>C	NM_005477.3	NP_005468.1:p.(Gly1012Ala)	NC_000015.9:g.73615399C>G	VUS	1 lab	aeab14898f
8:21975400 MISSING G>Alt too long to show for this DUP	8	21975400	22269932	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.21975401_22269932dup	VUS	1 lab	aeb08f88ab
4:619516 PDE6B C>T	4	619516	619516	C	T	PDE6B	c.101C>T	NM_000283.4	NP_000274.3:p.(Ala34Val)	NC_000004.11:g.619516C>T	(Likely) benign	1 lab	aebca45317
7:91094283 MISSING A>Alt too long to show for this DUP	7	91094283	91556579	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.91094284_91556579dup	VUS	1 lab	aebd12c3ff
17:48266137 COL1A1 C>A	17	48266137	48266137	C	A	COL1A1	c.3065G>T	NM_000088.4	NP_000079.2:p.(Gly1022Val)	NC_000017.10:g.48266137C>A	(Likely) pathogenic	1 lab	aed1f5f916
4:119686060 SEC24D T>C	4	119686060	119686060	T	C	SEC24D	c.1193A>G	NM_014822.4	NP_055637.2:p.(Tyr398Cys)	NC_000004.11:g.119686060T>C	VUS	1 lab	aec383ffb7
10:126691994 CTBP2 G>C	10	126691994	126691994	G	C	CTBP2	c.1746C>G	NM_022802.3	NP_073713.2:p.(Arg582=)	NC_000010.10:g.126691994G>C	(Likely) benign	1 lab	aec4f1debf
18:47091791 LIPG G>A	18	47091791	47091791	G	A	LIPG	c.202G>A	NM_006033.4	NP_006024.1:p.(Val68Ile)	NC_000018.9:g.47091791G>A	VUS	1 lab	aec599719f
8:144900541 PUF60 A>C	8	144900541	144900541	A	C	PUF60	c.621+2T>G	NM_001362896.2	NP_001349825.1:p.?	NC_000008.10:g.144900541A>C	(Likely) pathogenic	1 lab	aec5ff78bf
17:8192188 SLC25A35 G>A	17	8192188	8192188	G	A	SLC25A35	c.*746C>T	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192188G>A	(Likely) benign	1 lab	aec6875216
16:11643502 LITAF C>T	16	11643502	11643502	C	T	LITAF	c.477G>A	NM_004862.4	NP_004853.2:p.(Lys159=)	NC_000016.9:g.11643502C>T	(Likely) benign	1 lab	aec73c0d73
7:120446592 TSPAN12 T>C	7	120446592	120446592	T	C	TSPAN12	c.612+11A>G	NM_012338.4	NP_036470.1:p.?	NC_000007.13:g.120446592T>C	(Likely) benign	1 lab	aec772df95
8:145618595 CPSF1 A>T	8	145618595	145618595	A	T	CPSF1	c.4285-15T>A	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145618595A>T	(Likely) benign	1 lab	aec78ac41c
11:68682300 IGHMBP2 T>C	11	68682300	68682300	T	C	IGHMBP2	c.721T>C	NM_002180.3	NP_002171.2:p.(Cys241Arg)	NC_000011.9:g.68682300T>C	(Likely) pathogenic	1 lab	aec9943f7c
19:55286879 KIR2DL1 G>C	19	55286879	55286879	G	C	KIR2DL1	c.633G>C	NM_014218.3	NP_055033.2:p.(Lys211Asn)	NC_000019.9:g.55286879G>C	(Likely) benign	1 lab	aed3f2f11b
18:45391419 SMAD2 AT>A	18	45391419	45391427	AT	A	SMAD2	c.730+10del	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45391427del	(Likely) benign	1 lab	aed5e43466
4:113353358 ALPK1 G>A	4	113353358	113353358	G	A	ALPK1	c.2655G>A	NM_025144.4	NP_079420.3:p.(Ala885=)	NC_000004.11:g.113353358G>A	(Likely) benign	1 lab	aedc3651ee
19:8993041 MUC16 A>G	19	8993041	8993041	A	G	MUC16	c.41718T>C	NM_024690.2	NP_078966.2:p.(Gly13906=)	NC_000019.9:g.8993041A>G	(Likely) benign	1 lab	aee01248a8
15:73616458 HCN4 G>A	15	73616458	73616458	G	A	HCN4	c.2115C>T	NM_005477.3	NP_005468.1:p.(Thr705=)	NC_000015.9:g.73616458G>A	(Likely) benign	1 lab	aee3dcad80
1:196905515 MISSING A>Alt too long to show for this DUP	1	196905515	196965758	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.196905516_196965758dup	VUS	1 lab	aee6bd65a4
8:59409368 CYP7A1 G>A	8	59409368	59409368	G	A	CYP7A1	c.703C>T	NM_000780.4	NP_000771.2:p.(Arg235Trp)	NC_000008.10:g.59409368G>A	VUS	1 lab	aee85402fb
12:2795388 CACNA1C G>T	12	2795388	2795388	G	T	CACNA1C	c.5986G>T	NM_199460.4	NP_955630.3:p.(Asp1996Tyr)	NC_000012.11:g.2795388G>T	VUS	1 lab	aeeaead618
X:38145692 RPGR C>G	X	38145692	38145692	C	G	RPGR	c.2560G>C	NM_001034853.2	NP_001030025.1:p.(Gly854Arg)	NC_000023.10:g.38145692C>G	VUS	1 lab	aef00c07d6
12:107386553 CRY1 Ref too long to show for this DEL>T	12	107386553	107399041	Ref too long to show for this DEL	T	CRY1	c.268-14_1761+11del	NM_004075.5	NP_004066.1:p.?	NC_000012.11:g.107386555_107399041del	(Likely) pathogenic	1 lab	aef062c7d3
15:85384117 ALPK3 G>A	15	85384117	85384117	G	A	ALPK3	c.1607G>A	NM_020778.5	NP_065829.4:p.(Arg536Gln)	NC_000015.9:g.85384117G>A	VUS	1 lab	aef164e5a3
6:136281278 PDE7B Ref too long to show for this DEL>A	6	136281278	136312954	Ref too long to show for this DEL	A	PDE7B	c.82+12617_82+44292del	NM_018945.4	NP_061818.1:p.?	NC_000006.11:g.136281279_136312954del	VUS	1 lab	aef3710f6d
16:46761264 MYLK3 G>A	16	46761264	46761264	G	A	MYLK3	c.1798C>T	NM_182493.3	NP_872299.2:p.(Arg600Trp)	NC_000016.9:g.46761264G>A	VUS	1 lab	aef5be525d
X:153171432 AVPR2 C>T	X	153171432	153171432	C	T	AVPR2	c.472C>T	NM_001146151.3	NP_001139623.1:p.(Arg158Trp)	NC_000023.10:g.153171432C>T	VUS	1 lab	aef66abe3b
3:195452870 MUC20 G>A	3	195452870	195452870	G	A	MUC20	c.1396G>A	NM_001282506.2	NP_001269435.1:p.(Glu466Lys)	NC_000003.11:g.195452870G>A	(Likely) benign	1 lab	aef73856ef
2:179312317 PRKRA A>AGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCAC	2	179312317	179312318	A	AGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCAC	PRKRA	c.203-5_203-4insGTGCAAATACACGTGCCCACTTTCACCTTCAGAGTAACCGTTGGTGACATAACC	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179312317_179312318insGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCAC	(Likely) benign	1 lab	aef7b8aa4a
1:180757007 XPR1 CT>C	1	180757007	180757017	CT	C	XPR1	c.223+27del	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180757017del	(Likely) benign	1 lab	af00e28ff6
18:43492386 EPG5 T>C	18	43492386	43492386	T	C	EPG5	c.3852A>G	NM_020964.3	NP_066015.2:p.(Pro1284=)	NC_000018.9:g.43492386T>C	(Likely) benign	1 lab	af0411e99e
1:94497425 ABCA4 G>C	1	94497425	94497425	G	C	ABCA4	c.4037C>G	NM_000350.3	NP_000341.2:p.(Thr1346Arg)	NC_000001.10:g.94497425G>C	VUS	1 lab	af046ff7a1
9:107547770 ABCA1 T>C	9	107547770	107547770	T	C	ABCA1	c.6552A>G	NM_005502.4	NP_005493.2:p.(Leu2184=)	NC_000009.11:g.107547770T>C	(Likely) benign	1 lab	af0bc6bef3
5:147793693 FBXO38 T>C	5	147793693	147793693	T	C	FBXO38	c.1094-6T>C	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147793693T>C	(Likely) benign	1 lab	af0eea30d6
19:43031248 CEACAM1 T>G	19	43031248	43031248	T	G	CEACAM1	c.369A>C	NM_001712.5	NP_001703.2:p.(Gln123His)	NC_000019.9:g.43031248T>G	(Likely) benign	1 lab	af0f0d9d27
17:27239818 PHF12 CAGCCGCTGGT>C	17	27239818	27239828	CAGCCGCTGGT	C	PHF12	c.1761_1770del	NM_001290131.2	NP_001277060.1:p.(Pro588GlyfsTer12)	NC_000017.10:g.27239819_27239828del	VUS	1 lab	af1068186e
14:23863387 MYH6 C>T	14	23863387	23863387	C	T	MYH6	c.2575G>A	NM_002471.4	NP_002462.2:p.(Gly859Arg)	NC_000014.8:g.23863387C>T	VUS	1 lab	af1228810d
14:23853673 MYH6 C>A	14	23853673	23853673	C	A	MYH6	c.5543G>T	NM_002471.4	NP_002462.2:p.(Arg1848Leu)	NC_000014.8:g.23853673C>A	VUS	1 lab	af15679a15
12:122260486 SETD1B C>G	12	122260486	122260486	C	G	SETD1B	c.4001C>G	NM_001353345.2	NP_001340274.1:p.(Pro1334Arg)	NC_000012.11:g.122260486C>G	(Likely) benign	1 lab	af18048575
12:21327601 SLCO1B1 T>C	12	21327601	21327601	T	C	SLCO1B1	c.317T>C	NM_006446.5	NP_006437.3:p.(Ile106Thr)	NC_000012.11:g.21327601T>C	(Likely) benign	1 lab	af18d9b27b
2:152497055 NEB C>T	2	152497055	152497055	C	T	NEB	c.8499G>A	NM_001271208.2	NP_001258137.2:p.(Lys2833=)	NC_000002.11:g.152497055C>T	(Likely) benign	1 lab	af1b9e65e0
13:49034022 RB1 A>ATTTCTTTCTTTCT	13	49034022	49034025	A	ATTTCTTTCTTTCT	RB1	c.2106+55_2106+56insTCTTTCTTTCTTT	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49034024_49034025insTCTTTCTTTCTTT	(Likely) benign	1 lab	af1c99fcdf
2:241696900 KIF1A G>A	2	241696900	241696900	G	A	KIF1A	c.2694C>T	NM_001244008.2	NP_001230937.1:p.(Thr898=)	NC_000002.11:g.241696900G>A	(Likely) benign	1 lab	af1cd72718
9:107578401 ABCA1 C>T	9	107578401	107578401	C	T	ABCA1	c.3738+23G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578401C>T	(Likely) benign	1 lab	af1e463f14
9:136223043 SURF1 C>G	9	136223043	136223043	C	G	SURF1	c.106+81G>C	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136223043C>G	(Likely) benign	1 lab	af1e5f96c4
3:46904789 MYL3 C>T	3	46904789	46904789	C	T	MYL3	c.92G>A	NM_000258.3	NP_000249.1:p.(Arg31His)	NC_000003.11:g.46904789C>T	VUS	1 lab	af1f60fb72
12:32794600 FGD4 A>C	12	32794600	32794600	A	C	FGD4	c.*1133A>C	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32794600A>C	(Likely) benign	1 lab	af205a5aee
12:33049510 PKP2 C>T	12	33049510	33049510	C	T	PKP2	c.156G>A	NM_004572.4	NP_004563.2:p.(Lys52=)	NC_000012.11:g.33049510C>T	(Likely) benign	1 lab	af207b5995
9:137696989 COL5A1 C>G	9	137696989	137696989	C	G	COL5A1	c.3205-18C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137696989C>G	(Likely) benign	1 lab	af208ef2e0
3:12626108 RAF1 G>A	3	12626108	12626108	G	A	RAF1	c.1852C>T	NM_002880.4	NP_002871.1:p.(Arg618Trp)	NC_000003.11:g.12626108G>A	VUS	1 lab	af229ca43b
8:82359623 PMP2 G>A	8	82359623	82359623	G	A	PMP2	c.-2C>T	NM_002677.5	NP_002668.1:p.?	NC_000008.10:g.82359623G>A	(Likely) benign	1 lab	af261bab0a
8:144996029 PLEC A>G	8	144996029	144996029	A	G	PLEC	c.8371T>C	NM_201380.4	NP_958782.1:p.(Ser2791Pro)	NC_000008.10:g.144996029A>G	(Likely) benign	1 lab	af264edcb7
17:2234246 TSR1 C>T	17	2234246	2234246	C	T	TSR1	c.1654G>A	NM_018128.5	NP_060598.3:p.(Ala552Thr)	NC_000017.10:g.2234246C>T	(Likely) benign	1 lab	af27ab25e1
15:45669055 GATM C>A	15	45669055	45669055	C	A	GATM	c.70-38G>T	NM_001482.3	NP_001473.1:p.?	NC_000015.9:g.45669055C>A	(Likely) benign	1 lab	af2f75e45c
2:179459097 TTN T>C	2	179459097	179459097	T	C	TTN	c.58124A>G	NM_001267550.2	NP_001254479.2:p.(Lys19375Arg)	NC_000002.11:g.179459097T>C	VUS	1 lab	af35e7fa2b
4:114276085 ANK2 G>A	4	114276085	114276085	G	A	ANK2	c.6452G>A	NM_001386174.1	NP_001373103.1:p.(Ser2151Asn)	NC_000004.11:g.114276085G>A	VUS	1 lab	af369717bf
2:21235483 APOB T>C	2	21235483	21235483	T	C	APOB	c.4257A>G	NM_000384.3	NP_000375.3:p.(Thr1419=)	NC_000002.11:g.21235483T>C	(Likely) benign	1 lab	af3975d569
2:179415933 TTN T>G	2	179415933	179415933	T	G	TTN	c.91325A>C	NM_001267550.2	NP_001254479.2:p.(Lys30442Thr)	NC_000002.11:g.179415933T>G	VUS	1 lab	af3a5e0b2e
11:47357547 MYBPC3 G>A	11	47357547	47357547	G	A	MYBPC3	c.2618C>T	NM_000256.3	NP_000247.2:p.(Pro873Leu)	NC_000011.9:g.47357547G>A	VUS	1 lab	af3f76c0de
1:18416289 MISSING Ref too long to show for this DEL>G	1	18416289	24344537	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.18416290_24344537del	(Likely) pathogenic	1 lab	af4096cf2f
10:18439808 CACNB2 T>TTTTTTTTTTTTTG	10	18439808	18439810	T	TTTTTTTTTTTTTG	CACNB2	c.37-3_37-2insTTTTTTTTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTTTTTTTTGT	(Likely) benign	1 lab	af40cef2b8
7:94058637 COL1A2 T>C	7	94058637	94058637	T	C	COL1A2	c.3849T>C	NM_000089.4	NP_000080.2:p.(Thr1283=)	NC_000007.13:g.94058637T>C	(Likely) benign	1 lab	af44128f18
2:179449213 TTN TC>T	2	179449213	179449216	TC	T	TTN	c.65064del	NM_001267550.2	NP_001254479.2:p.(Ser21689AlafsTer7)	NC_000002.11:g.179449216del	(Likely) pathogenic	1 lab	af465d37c1
19:17743622 UNC13A C>A	19	17743622	17743622	C	A	UNC13A	c.3397G>T	NM_001080421.3	NP_001073890.2:p.(Ala1133Ser)	NC_000019.9:g.17743622C>A	(Likely) benign	1 lab	af479e8ee6
4:84390201 ABRAXAS1 C>A	4	84390201	84390201	C	A	ABRAXAS1	c.580G>T	NM_139076.3	NP_620775.2:p.(Ala194Ser)	NC_000004.11:g.84390201C>A	(Likely) benign	1 lab	af49c6432c
14:23862959 MYH6 C>T	14	23862959	23862959	C	T	MYH6	c.2844G>A	NM_002471.4	NP_002462.2:p.(Glu948=)	NC_000014.8:g.23862959C>T	(Likely) benign	1 lab	af4c0123db
6:102307163 GRIK2 Ref too long to show for this DEL>A	6	102307163	102354171	Ref too long to show for this DEL	A	GRIK2	c.1321_1748+16433del	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102307165_102354171del	VUS	1 lab	af502a0970
19:45411057 APOE G>A	19	45411057	45411057	G	A	APOE	c.162G>A	NM_001302688.2	NP_001289617.1:p.(Pro54=)	NC_000019.9:g.45411057G>A	(Likely) benign	1 lab	af5345e1f1
14:95590839 DICER1 G>A	14	95590839	95590839	G	A	DICER1	c.1070C>T	NM_177438.3	NP_803187.1:p.(Ala357Val)	NC_000014.8:g.95590839G>A	VUS	1 lab	af54169e1e
1:112319792 KCND3 C>T	1	112319792	112319792	C	T	KCND3	c.1622G>A	NM_004980.5	NP_004971.2:p.(Gly541Asp)	NC_000001.10:g.112319792C>T	VUS	1 lab	af71c45e11
16:81973597 PLCG2 A>G	16	81973597	81973597	A	G	PLCG2	c.3414A>G	NM_002661.5	NP_002652.2:p.(Glu1138=)	NC_000016.9:g.81973597A>G	(Likely) benign	1 lab	af5faa9516
19:11228145 LDLR C>T	19	11228145	11228145	C	T	LDLR	c.1845+471C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228145C>T	(Likely) benign	1 lab	af61090041
9:21802984 MTAP A>AACACACACACACACACAC	9	21802984	21803036	A	AACACACACACACACACAC	MTAP	c.33+239_33+256dup	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21803019_21803036dup	(Likely) benign	1 lab	af613a54dd
15:23892238 MAGEL2 G>A	15	23892238	23892238	G	A	MAGEL2	c.652C>T	NM_019066.5	NP_061939.3:p.(Pro218Ser)	NC_000015.9:g.23892238G>A	(Likely) benign	1 lab	af61fece0f
1:103381214 COL11A1 T>C	1	103381214	103381214	T	C	COL11A1	c.3825A>G	NM_080629.3	NP_542196.2:p.(Pro1275=)	NC_000001.10:g.103381214T>C	(Likely) benign	1 lab	af63d94fe4
6:116720350 DSE A>G	6	116720350	116720350	A	G	DSE	c.-53-11A>G	NM_013352.4	NP_037484.1:p.?	NC_000006.11:g.116720350A>G	(Likely) benign	1 lab	af671d864a
5:151264060 MISSING C>Alt too long to show for this DUP	5	151264060	151366170	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.151264064_151366170dup	VUS	1 lab	af6dfad3ec
6:112452291 LAMA4 A>C	6	112452291	112452291	A	C	LAMA4	c.3847T>G	NM_001105206.3	NP_001098676.2:p.(Ser1283Ala)	NC_000006.11:g.112452291A>C	VUS	1 lab	af6f1691e5
1:94544251 ABCA4 A>G	1	94544251	94544251	A	G	ABCA4	c.1251T>C	NM_000350.3	NP_000341.2:p.(Thr417=)	NC_000001.10:g.94544251A>G	(Likely) benign	1 lab	af7148c773
17:14085914 MISSING Ref too long to show for this DEL>C	17	14085914	15491109	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.14085915_15491109del	(Likely) pathogenic	1 lab	af724a187e
3:89148236 MISSING Ref too long to show for this DEL>A	3	89148236	90473622	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.89148238_90473622del	VUS	1 lab	af778a3dd7
1:116243843 CASQ2 A>G	1	116243843	116243843	A	G	CASQ2	c.*19T>C	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116243843A>G	(Likely) benign	1 lab	af790e822c
9:27062722 IFT74 C>T	9	27062722	27062722	C	T	IFT74	c.1791C>T	NM_001099222.3	NP_001092692.1:p.(Thr597=)	NC_000009.11:g.27062722C>T	(Likely) benign	1 lab	af793b676b
X:110938199 ALG13 G>Alt too long to show for this DUP	X	110938199	110972855	G	Alt too long to show for this DUP	ALG13	c.383+9871_2369-768dup	NM_001099922.3	NP_001093392.1:p.?	NC_000023.10:g.110938202_110972855dup	VUS	1 lab	af7e0553fa
11:47365403 MYBPC3 C>T	11	47365403	47365403	C	T	MYBPC3	c.1091-228G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365403C>T	(Likely) benign	1 lab	af81ee123a
7:128482908 FLNC T>C	7	128482908	128482908	T	C	FLNC	c.2450T>C	NM_001458.5	NP_001449.3:p.(Ile817Thr)	NC_000007.13:g.128482908T>C	VUS	1 lab	af820dc9e4
3:78987736 ROBO1 G>A	3	78987736	78987736	G	A	ROBO1	c.382+15C>T	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78987736G>A	(Likely) benign	1 lab	af83a38bc8
2:21228059 APOB T>A	2	21228059	21228059	T	A	APOB	c.11681A>T	NM_000384.3	NP_000375.3:p.(Tyr3894Phe)	NC_000002.11:g.21228059T>A	VUS	1 lab	af8404526c
11:47369461 MYBPC3 G>C	11	47369461	47369461	G	C	MYBPC3	c.773-5C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369461G>C	(Likely) pathogenic	1 lab	af8a5d55aa
15:40268998 EIF2AK4 G>GGACGAC	15	40268998	40269009	G	GGACGAC	EIF2AK4	c.2208_2213dup	NM_001013703.4	NP_001013725.2:p.(Asp736_Asp737dup)	NC_000015.9:g.40269004_40269009dup	(Likely) benign	1 lab	af8a8eaa49
17:79519083 FAAP100 G>A	17	79519083	79519083	G	A	FAAP100	c.166-5C>T	NM_025161.6	NP_079437.5:p.?	NC_000017.10:g.79519083G>A	(Likely) benign	1 lab	af8c4f52cf
2:69614161 GFPT1 A>G	2	69614161	69614161	A	G	GFPT1	c.7+36T>C	NM_001244710.2	NP_001231639.1:p.?	NC_000002.11:g.69614161A>G	(Likely) benign	1 lab	af90ce3db8
16:15815282 MYH11 C>T	16	15815282	15815282	C	T	MYH11	c.4575G>A	NM_002474.3	NP_002465.1:p.(Lys1525=)	NC_000016.9:g.15815282C>T	(Likely) benign	1 lab	af93407691
2:166167069 SCN2A A>G	2	166167069	166167069	A	G	SCN2A	c.934A>G	NM_021007.3	NP_066287.2:p.(Ser312Gly)	NC_000002.11:g.166167069A>G	VUS	1 lab	af94d45f4c
18:47101774 LIPG G>A	18	47101774	47101774	G	A	LIPG	c.607G>A	NM_006033.4	NP_006024.1:p.(Asp203Asn)	NC_000018.9:g.47101774G>A	VUS	1 lab	af9758c632
9:79824429 VPS13A A>G	9	79824429	79824429	A	G	VPS13A	c.476A>G	NM_033305.3	NP_150648.2:p.(His159Arg)	NC_000009.11:g.79824429A>G	VUS	1 lab	af98952702
3:195509976 MUC4 C>T	3	195509976	195509976	C	T	MUC4	c.8475G>A	NM_018406.7	NP_060876.5:p.(Val2825=)	NC_000003.11:g.195509976C>T	(Likely) benign	1 lab	af98c4adcd
12:32955053 PKP2 A>G	12	32955053	32955053	A	G	PKP2	c.2299+284T>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955053A>G	(Likely) benign	1 lab	af991c9773
10:89720876 PTEN G>C	10	89720876	89720876	G	C	PTEN	c.1026+1G>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720876G>C	(Likely) pathogenic	1 lab	af9a8ff1e0
19:10912952 DNM2 G>A	19	10912952	10912952	G	A	DNM2	c.1423-12G>A	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10912952G>A	(Likely) benign	1 lab	af9b11ecb4
12:21350134 SLCO1B1 A>G	12	21350134	21350134	A	G	SLCO1B1	c.970+12A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21350134A>G	(Likely) benign	1 lab	af9c2d284f
16:69726254 NFAT5 G>A	16	69726254	69726254	G	A	NFAT5	c.2244G>A	NM_138714.4	NP_619728.2:p.(Glu748=)	NC_000016.9:g.69726254G>A	(Likely) benign	1 lab	af9c67c71c
1:33248151 YARS1 G>A	1	33248151	33248151	G	A	YARS1	c.907-11C>T	NM_003680.4	NP_003671.1:p.?	NC_000001.10:g.33248151G>A	(Likely) benign	1 lab	af9ec9a4a2
2:8870959 KIDINS220 C>T	2	8870959	8870959	C	T	KIDINS220	c.5207G>A	NM_020738.4	NP_065789.1:p.(Arg1736Gln)	NC_000002.11:g.8870959C>T	VUS	1 lab	af9ff19aa6
1:218614629 TGFB2 T>TCATTTAGAAC	1	218614629	218614631	T	TCATTTAGAAC	TGFB2	c.1255_1256insATTTAGAACC	NM_001135599.4	NP_001129071.1:p.(Leu419HisfsTer14)	NC_000001.10:g.218614630_218614631insATTTAGAACC	(Likely) pathogenic	1 lab	afa0d748dc
2:55913533 PNPT1 G>C	2	55913533	55913533	G	C	PNPT1	c.269C>G	NM_033109.5	NP_149100.2:p.(Pro90Arg)	NC_000002.11:g.55913533G>C	VUS	1 lab	afa1b5365b
1:103544443 COL11A1 CA>C	1	103544443	103544446	CA	C	COL11A1	c.275-17del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103544446del	(Likely) benign	1 lab	afa30731cb
2:220075549 ABCB6 T>C	2	220075549	220075549	T	C	ABCB6	c.2144-4A>G	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220075549T>C	(Likely) benign	1 lab	afa5753357
3:119134886 ARHGAP31 G>A	3	119134886	119134886	G	A	ARHGAP31	c.4110G>A	NM_020754.4	NP_065805.2:p.(Lys1370=)	NC_000003.11:g.119134886G>A	(Likely) benign	1 lab	afa96ee3fc
2:176981559 HOXD10 A>G	2	176981559	176981559	A	G	HOXD10	c.-3A>G	NM_002148.4	NP_002139.2:p.?	NC_000002.11:g.176981559A>G	(Likely) benign	1 lab	afaa53c4d5
2:21233402 APOB G>A	2	21233402	21233402	G	A	APOB	c.6338C>T	NM_000384.3	NP_000375.3:p.(Ala2113Val)	NC_000002.11:g.21233402G>A	VUS	1 lab	afaed61037
17:29167 MISSING Ref too long to show for this DEL>T	17	29167	192759	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.29169_192759del	VUS	1 lab	afaf41ddf3
12:21327640 SLCO1B1 G>T	12	21327640	21327640	G	T	SLCO1B1	c.356G>T	NM_006446.5	NP_006437.3:p.(Gly119Val)	NC_000012.11:g.21327640G>T	(Likely) benign	1 lab	afb06de1bc
13:32954268 BRCA2 T>C	13	32954268	32954268	T	C	BRCA2	c.9242T>C	NM_000059.4	NP_000050.3:p.(Val3081Ala)	NC_000013.10:g.32954268T>C	(Likely) benign	1 lab	afb11e40d8
19:10941717 DNM2 C>T	19	10941717	10941717	C	T	DNM2	c.2607C>T	NM_001005360.3	NP_001005360.1:p.(Leu869=)	NC_000019.9:g.10941717C>T	(Likely) benign	1 lab	afb48e0df1
3:193380621 OPA1 A>G	3	193380621	193380621	A	G	OPA1	c.2531A>G	NM_130837.3	NP_570850.2:p.(Asn844Ser)	NC_000003.11:g.193380621A>G	VUS	1 lab	afb58b2620
10:69957253 MYPN T>C	10	69957253	69957253	T	C	MYPN	c.3285+18T>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69957253T>C	(Likely) benign	1 lab	afb5d6f2f1
2:179474732 TTN A>ATGTT	2	179474732	179474736	A	ATGTT	TTN	c.51437-23_51437-20dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179474733_179474736dup	(Likely) benign	1 lab	afb6c0a372
9:27029033 IFT74 AC>A	9	27029033	27029034	AC	A	IFT74	c.986del	NM_001349928.2	NP_001336857.1:p.(Thr329LysfsTer5)	NC_000009.11:g.27029034del	(Likely) pathogenic	1 lab	afb7fa7a57
9:107561675 ABCA1 TCACACACACA>T	9	107561675	107561717	TCACACACACA	T	ABCA1	c.4943+415_4943+424del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561708_107561717del	(Likely) benign	1 lab	afba41c3c7
X:74463756 MISSING T>Alt too long to show for this DUP	X	74463756	74649810	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.74463757_74649810dup	VUS	1 lab	afbca8cf9f
16:57015335 CETP GCTGCCAGGAAGA>G	16	57015335	57015347	GCTGCCAGGAAGA	G	CETP	c.1214+199_1214+210del	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015336_57015347del	(Likely) benign	1 lab	afbd434597
19:11217352 LDLR G>A	19	11217352	11217352	G	A	LDLR	c.806G>A	NM_000527.5	NP_000518.1:p.(Gly269Asp)	NC_000019.9:g.11217352G>A	(Likely) benign	1 lab	afbe71391e
7:128487155 FLNC CT>C	7	128487155	128487156	CT	C	FLNC	c.4288+197del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487156del	(Likely) benign	1 lab	afc068b397
19:50713885 MYH14 G>C	19	50713885	50713885	G	C	MYH14	c.263G>C	NM_001145809.2	NP_001139281.1:p.(Arg88Pro)	NC_000019.9:g.50713885G>C	VUS	1 lab	afc5063f77
15:55520843 RAB27A T>C	15	55520843	55520843	T	C	RAB27A	c.307A>G	NM_004580.5	NP_004571.2:p.(Asn103Asp)	NC_000015.9:g.55520843T>C	VUS	1 lab	afc5834df1
6:56765267 DST G>C	6	56765267	56765267	G	C	DST	c.369C>G	NM_001144769.5	NP_001138241.1:p.(Val123=)	NC_000006.11:g.56765267G>C	(Likely) benign	1 lab	afc8013532
2:179417525 TTN T>A	2	179417525	179417525	T	A	TTN	c.90102A>T	NM_001267550.2	NP_001254479.2:p.(Ile30034=)	NC_000002.11:g.179417525T>A	(Likely) benign	1 lab	afc86376ce
X:153609464 EMD G>A	X	153609464	153609464	G	A	EMD	c.672G>A	NM_000117.3	NP_000108.1:p.(Pro224=)	NC_000023.10:g.153609464G>A	(Likely) benign	1 lab	afc988adfb
21:35821711 KCNE1 C>T	21	35821711	35821711	C	T	KCNE1	c.222G>A	NM_001127670.4	NP_001121142.1:p.(Ser74=)	NC_000021.8:g.35821711C>T	(Likely) benign	1 lab	afcb0b6c17
10:28276419 ODAD2 A>C	10	28276419	28276419	A	C	ODAD2	c.278T>G	NM_018076.5	NP_060546.2:p.(Phe93Cys)	NC_000010.10:g.28276419A>C	VUS	1 lab	afd35cf569
18:6894690 MISSING Ref too long to show for this DEL>C	18	6894690	6929100	Ref too long to show for this DEL	C	MISSING				NC_000018.9:g.6894694_6929100del	VUS	1 lab	afd4eb0291
3:151171550 IGSF10 T>C	3	151171550	151171550	T	C	IGSF10	c.337A>G	NM_178822.5	NP_849144.2:p.(Ser113Gly)	NC_000003.11:g.151171550T>C	VUS	1 lab	afd53352f8
18:10762974 PIEZO2 C>T	18	10762974	10762974	C	T	PIEZO2	c.2994G>A	NM_022068.4	NP_071351.2:p.(Met998Ile)	NC_000018.9:g.10762974C>T	(Likely) pathogenic	1 lab	afd6fc2385
3:71021728 FOXP1 G>A	3	71021728	71021728	G	A	FOXP1	c.1630C>T	NM_001349338.3	NP_001336267.1:p.(Arg544Ter)	NC_000003.11:g.71021728G>A	(Likely) pathogenic	1 lab	afd82020d0
1:3342703 PRDM16 C>T	1	3342703	3342703	C	T	PRDM16	c.3198C>T	NM_022114.4	NP_071397.3:p.(Asp1066=)	NC_000001.10:g.3342703C>T	(Likely) benign	1 lab	afdcfee9e0
21:46927476 COL18A1 T>C	21	46927476	46927476	T	C	COL18A1	c.4454T>C	NM_130444.3	NP_569711.2:p.(Leu1485Pro)	NC_000021.8:g.46927476T>C	VUS	1 lab	afddc39df6
15:34529608 SLC12A6 C>G	15	34529608	34529608	C	G	SLC12A6	c.2907+12G>C	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34529608C>G	(Likely) benign	1 lab	afde53a50d
2:21238346 APOB C>T	2	21238346	21238346	C	T	APOB	c.3404G>A	NM_000384.3	NP_000375.3:p.(Ser1135Asn)	NC_000002.11:g.21238346C>T	VUS	1 lab	afde581349
12:88471477 CEP290 T>G	12	88471477	88471477	T	G	CEP290	c.5583A>C	NM_025114.4	NP_079390.3:p.(Leu1861Phe)	NC_000012.11:g.88471477T>G	VUS	1 lab	b08e448cc8
16:74369517 MISSING G>Alt too long to show for this DUP	16	74369517	74452023	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.74369518_74452023dup	(Likely) benign	1 lab	afe13f75dd
15:67473521 SMAD3 C>T	15	67473521	67473521	C	T	SMAD3	c.659-58C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473521C>T	(Likely) benign	1 lab	afe49595b0
1:197449245 MISSING C>Alt too long to show for this DUP	1	197449245	197545511	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.197449247_197545511dup	VUS	1 lab	afe64e3c1f
4:114290890 ANK2 G>A	4	114290890	114290890	G	A	ANK2	c.11539G>A	NM_001148.6	NP_001139.3:p.(Val3847Ile)	NC_000004.11:g.114290890G>A	VUS	1 lab	afe760945d
13:50747749 MISSING T>TA	13	50747749	50747758	T	TA	MISSING				NC_000013.10:g.50747758dup	(Likely) benign	1 lab	afeae81602
3:14175256 TMEM43 C>G	3	14175256	14175256	C	G	TMEM43	c.530C>G	NM_024334.3	NP_077310.1:p.(Ser177Ter)	NC_000003.11:g.14175256C>G	VUS	1 lab	afecc44dfe
1:155658184 YY1AP1 C>A	1	155658184	155658184	C	A	YY1AP1	c.72G>T	NM_001198903.1	NP_001185832.1:p.(Val24=)	NC_000001.10:g.155658184C>A	(Likely) benign	1 lab	afed724a86
14:88452878 GALC A>G	14	88452878	88452878	A	G	GALC	c.397T>C	NM_000153.4	NP_000144.2:p.(Leu133=)	NC_000014.8:g.88452878A>G	(Likely) benign	1 lab	afefb6afd2
13:32914267 BRCA2 G>C	13	32914267	32914267	G	C	BRCA2	c.5775G>C	NM_000059.4	NP_000050.3:p.(Gln1925His)	NC_000013.10:g.32914267G>C	(Likely) benign	1 lab	aff064299f
15:45398369 DUOX2 C>T	15	45398369	45398369	C	T	DUOX2	c.2102G>A	NM_014080.5	NP_054799.4:p.(Arg701Gln)	NC_000015.9:g.45398369C>T	(Likely) benign	1 lab	aff7bda6dc
7:91843272 KRIT1 G>A	7	91843272	91843272	G	A	KRIT1	c.1752C>T	NM_004912.4	NP_004903.2:p.(Ile584=)	NC_000007.13:g.91843272G>A	(Likely) benign	1 lab	aff8481f89
19:54625227 PRPF31 G>A	19	54625227	54625227	G	A	PRPF31	c.239-12G>A	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54625227G>A	(Likely) benign	1 lab	affb0ad7c7
15:45394007 DUOX2 T>C	15	45394007	45394007	T	C	DUOX2	c.2835A>G	NM_001363711.2	NP_001350640.1:p.(Gly945=)	NC_000015.9:g.45394007T>C	(Likely) benign	1 lab	affc4342e2
1:156146540 SEMA4A T>C	1	156146540	156146540	T	C	SEMA4A	c.2038T>C	NM_022367.4	NP_071762.2:p.(Tyr680His)	NC_000001.10:g.156146540T>C	VUS	1 lab	b001a8b28b
2:220503535 SLC4A3 C>T	2	220503535	220503535	C	T	SLC4A3	c.3048C>T	NM_201574.3	NP_963868.3:p.(Ala1016=)	NC_000002.11:g.220503535C>T	(Likely) benign	1 lab	b003736457
11:1017036 MUC6 G>GCA	11	1017036	1017037	G	GCA	MUC6	c.5764_5765insTG	NM_005961.3	NP_005952.2:p.(Thr1922MetfsTer64)	NC_000011.9:g.1017036_1017037insCA	(Likely) benign	1 lab	b00419966a
1:74834694 TNNI3K T>C	1	74834694	74834694	T	C	TNNI3K	c.1322-12T>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74834694T>C	(Likely) benign	1 lab	b005cfc8cd
17:48275823 COL1A1 T>TA	17	48275823	48275824	T	TA	COL1A1	c.513_514insT	NM_000088.4	NP_000079.2:p.(Thr172TyrfsTer36)	NC_000017.10:g.48275823_48275824insA	(Likely) pathogenic	1 lab	b0076e1624
1:186014804 HMCN1 C>T	1	186014804	186014804	C	T	HMCN1	c.6305-16C>T	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186014804C>T	(Likely) benign	1 lab	b00a47e670
5:121406273 LOX A>G	5	121406273	121406273	A	G	LOX	c.1047T>C	NM_002317.7	NP_002308.2:p.(Pro349=)	NC_000005.9:g.121406273A>G	(Likely) benign	1 lab	b011175b3d
16:81385276 GAN A>T	16	81385276	81385276	A	T	GAN	c.256A>T	NM_022041.4	NP_071324.1:p.(Ile86Phe)	NC_000016.9:g.81385276A>T	(Likely) pathogenic	1 lab	b01648a6f1
6:148913994 MISSING Ref too long to show for this DEL>A	6	148913994	151546076	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.148913995_151546076del	(Likely) pathogenic	1 lab	b01684c42d
2:179410282 TTN-AS1 A>G	2	179410282	179410282	A	G	TTN-AS1	n.2043+3194A>G	NR_038272.1		NC_000002.11:g.179410282A>G	(Likely) benign	1 lab	b016a57062
4:652765 PDE6B G>A	4	652765	652765	G	A	PDE6B	c.1426G>A	NM_000283.4	NP_000274.3:p.(Glu476Lys)	NC_000004.11:g.652765G>A	VUS	1 lab	b01c02ca30
16:68863673 CDH1 C>T	16	68863673	68863673	C	T	CDH1	c.2412C>T	NM_004360.5	NP_004351.1:p.(Pro804=)	NC_000016.9:g.68863673C>T	(Likely) benign	1 lab	b01c6b7787
5:32783220 NPR3 C>T	5	32783220	32783220	C	T	NPR3	c.1426+86C>T	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32783220C>T	(Likely) benign	1 lab	b01f3c20f1
17:465775 VPS53 G>A	17	465775	465775	G	A	VPS53	c.1524C>T	NM_001128159.3	NP_001121631.1:p.(Tyr508=)	NC_000017.10:g.465775G>A	(Likely) benign	1 lab	b01feb953a
12:50851114 MISSING Ref too long to show for this DEL>C	12	50851114	50885367	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.50851115_50885367del	VUS	1 lab	b02319213d
9:2128054 SMARCA2 T>Alt too long to show for this DUP	9	2128054	2195143	T	Alt too long to show for this DUP	SMARCA2				NC_000009.11:g.2128057_2195143dup	VUS	1 lab	b023ce3887
X:46713409 RP2 A>G	X	46713409	46713409	A	G	RP2	c.601A>G	NM_006915.3	NP_008846.2:p.(Ile201Val)	NC_000023.10:g.46713409A>G	(Likely) benign	1 lab	b0243cd5d1
12:116445383 MED13L G>A	12	116445383	116445383	G	A	MED13L	c.2071C>T	NM_015335.5	NP_056150.1:p.(Gln691Ter)	NC_000012.11:g.116445383G>A	(Likely) pathogenic	1 lab	b0274b41da
2:21231693 APOB C>G	2	21231693	21231693	C	G	APOB	c.8047G>C	NM_000384.3	NP_000375.3:p.(Glu2683Gln)	NC_000002.11:g.21231693C>G	VUS	1 lab	b029d382d1
9:107554449 ABCA1 G>A	9	107554449	107554449	G	A	ABCA1	c.5758-170C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554449G>A	(Likely) benign	1 lab	b02b490425
6:100838419 SIM1 C>G	6	100838419	100838419	C	G	SIM1	c.2119G>C	NM_005068.3	NP_005059.2:p.(Asp707His)	NC_000006.11:g.100838419C>G	VUS	1 lab	b03344d700
14:24551861 NRL C>T	14	24551861	24551861	C	T	NRL	c.197G>A	NM_006177.5	NP_006168.1:p.(Arg66Gln)	NC_000014.8:g.24551861C>T	VUS	1 lab	b036c2ca76
2:145156636 ZEB2 TG>T	2	145156636	145156640	TG	T	ZEB2	c.2117del	NM_014795.4	NP_055610.1:p.(Pro706HisfsTer10)	NC_000002.11:g.145156640del	(Likely) pathogenic	1 lab	b0370ffd90
16:68867397 CDH1 G>A	16	68867397	68867397	G	A	CDH1	c.2644G>A	NM_004360.5	NP_004351.1:p.(Asp882Asn)	NC_000016.9:g.68867397G>A	VUS	1 lab	b03cd2f64c
18:72344091 ZNF407 T>C	18	72344091	72344091	T	C	ZNF407	c.1116T>C	NM_017757.3	NP_060227.2:p.(Ala372=)	NC_000018.9:g.72344091T>C	(Likely) benign	1 lab	b03da31778
11:116708020 APOA1 A>G	11	116708020	116708020	A	G	APOA1	c.-241+41T>C	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116708020A>G	(Likely) benign	1 lab	b03de99e0f
19:11216134 LDLR T>G	19	11216134	11216134	T	G	LDLR	c.552T>G	NM_000527.5	NP_000518.1:p.(Cys184Trp)	NC_000019.9:g.11216134T>G	(Likely) pathogenic	1 lab	b03e65a8d5
X:54209302 FAM120C G>GGGCGGC	X	54209302	54209317	G	GGGCGGC	FAM120C	c.324_329dup	NM_017848.6	NP_060318.4:p.(Pro110_Pro111dup)	NC_000023.10:g.54209312_54209317dup	(Likely) benign	1 lab	b0439d6e99
6:112461998 LAMA4 T>G	6	112461998	112461998	T	G	LAMA4	c.2940A>C	NM_001105206.3	NP_001098676.2:p.(Thr980=)	NC_000006.11:g.112461998T>G	(Likely) benign	1 lab	b049186b18
13:110829313 COL4A1 C>T	13	110829313	110829313	C	T	COL4A1	c.2788G>A	NM_001845.6	NP_001836.3:p.(Gly930Ser)	NC_000013.10:g.110829313C>T	(Likely) pathogenic	1 lab	b04c8ad8fc
1:74819718 TNNI3K A>T	1	74819718	74819718	A	T	TNNI3K	c.1082A>T	NM_015978.3	NP_057062.1:p.(Asp361Val)	NC_000001.10:g.74819718A>T	VUS	1 lab	b04f0bd180
20:31021600 ASXL1 ATCCTTTCCCG>A	20	31021600	31021610	ATCCTTTCCCG	A	ASXL1	c.1600_1609del	NM_015338.6	NP_056153.2:p.(Ser534LysfsTer166)	NC_000020.10:g.31021601_31021610del	(Likely) pathogenic	1 lab	b05036a738
18:34192087 FHOD3 C>G	18	34192087	34192087	C	G	FHOD3	c.957+29C>G	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34192087C>G	(Likely) benign	1 lab	b0a00d3e0f
8:59405041 CYP7A1 G>A	8	59405041	59405041	G	A	CYP7A1	c.1086C>T	NM_000780.4	NP_000771.2:p.(Asn362=)	NC_000008.10:g.59405041G>A	(Likely) benign	1 lab	b055899a1c
11:94812019 MISSING Ref too long to show for this DEL>G	11	94812019	94884956	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.94812020_94884956del	VUS	1 lab	b055c176e6
6:79770518 PHIP G>A	6	79770518	79770518	G	A	PHIP	c.207C>T	NM_017934.7	NP_060404.4:p.(His69=)	NC_000006.11:g.79770518G>A	(Likely) benign	1 lab	b057e4c442
2:179425768 TTN C>T	2	179425768	179425768	C	T	TTN	c.77387G>A	NM_133378.4	NP_596869.4:p.(Arg25796Gln)	NC_000002.11:g.179425768C>T	VUS	1 lab	b05fbf565e
11:46726343 ZNF408 C>T	11	46726343	46726343	C	T	ZNF408	c.1093C>T	NM_024741.3	NP_079017.1:p.(Leu365=)	NC_000011.9:g.46726343C>T	(Likely) benign	1 lab	b06373c8ef
19:11200162 LDLR T>C	19	11200162	11200162	T	C	LDLR	c.-63T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200162T>C	VUS	1 lab	b06b1d0849
2:179432503 TTN A>G	2	179432503	179432503	A	G	TTN	c.78356T>C	NM_001267550.2	NP_001254479.2:p.(Met26119Thr)	NC_000002.11:g.179432503A>G	VUS	1 lab	b06b6847b5
16:46766192 MYLK3 C>T	16	46766192	46766192	C	T	MYLK3	c.1390G>A	NM_182493.3	NP_872299.2:p.(Ala464Thr)	NC_000016.9:g.46766192C>T	VUS	1 lab	b06e5ec422
1:55524339 PCSK9 CGT>C	1	55524339	55524391	CGT	C	PCSK9	c.1503+70_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524390_55524391del	(Likely) benign	1 lab	b06eb0408b
5:71492291 MAP1B G>GA	5	71492291	71492297	G	GA	MAP1B	c.3115dup	NM_005909.5	NP_005900.2:p.(Met1039AsnfsTer4)	NC_000005.9:g.71492297dup	(Likely) pathogenic	1 lab	b06f8fb33a
22:29735243 MISSING C>Alt too long to show for this DUP	22	29735243	30061015	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.29735244_30061015dup	(Likely) pathogenic	1 lab	b072cb2d7d
9:5793181 ERMP1 Ref too long to show for this DEL>A	9	5793181	5822402	Ref too long to show for this DEL	A	ERMP1	c.874+1494_2386+4635del	NM_024896.3	NP_079172.2:p.?	NC_000009.11:g.5793182_5822402del	VUS	1 lab	b07a03337d
22:50295037 ALG12 Ref too long to show for this DEL>C	22	50295037	50301413	Ref too long to show for this DEL	C	ALG12	c.948_*2448del	NM_024105.4	NP_077010.1:p.(Phe317CysfsTer126)	NC_000022.10:g.50295038_50301413del	VUS	1 lab	b07fde8137
14:60976665 SIX6 C>CCG	14	60976665	60976667	C	CCG	SIX6	c.550_551dup	NM_007374.3	NP_031400.2:p.(Ala185GlufsTer77)	NC_000014.8:g.60976666_60976667dup	(Likely) pathogenic	1 lab	b0815e701e
4:16034982 PROM1 G>A	4	16034982	16034982	G	A	PROM1	c.454C>T	NM_006017.3	NP_006008.1:p.(Pro152Ser)	NC_000004.11:g.16034982G>A	VUS	1 lab	b0816b83e3
8:8887562 MISSING G>Alt too long to show for this DUP	8	8887562	9185452	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.8887563_9185452dup	VUS	1 lab	b084d3b5d7
8:38285867 FGFR1 T>C	8	38285867	38285867	T	C	FGFR1	c.445A>G	NM_023110.3	NP_075598.2:p.(Met149Val)	NC_000008.10:g.38285867T>C	VUS	1 lab	b0862585b3
3:180334668 CCDC39 TTGAAA>T	3	180334668	180334677	TTGAAA	T	CCDC39	c.2347_2351del	NM_181426.2	NP_852091.1:p.(Phe783ThrfsTer3)	NC_000003.11:g.180334673_180334677del	(Likely) pathogenic	1 lab	b086d5e6f2
1:186092174 HMCN1 G>T	1	186092174	186092174	G	T	HMCN1	c.12321G>T	NM_031935.3	NP_114141.2:p.(Pro4107=)	NC_000001.10:g.186092174G>T	(Likely) benign	1 lab	b0874c64a6
3:60011100 FHIT Ref too long to show for this DEL>T	3	60011100	60088412	Ref too long to show for this DEL	T	FHIT	c.104-88533_104-11223del	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.60011102_60088412del	VUS	1 lab	b08869eb27
17:48433133 XYLT2 T>C	17	48433133	48433133	T	C	XYLT2	c.1089-9T>C	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48433133T>C	(Likely) benign	1 lab	b089d4c1a4
17:41223248 BRCA1 G>A	17	41223248	41223248	G	A	BRCA1	c.4683C>T	NM_007294.4	NP_009225.1:p.(Thr1561=)	NC_000017.10:g.41223248G>A	(Likely) benign	1 lab	b08bb409fd
16:68862157 CDH1 C>T	16	68862157	68862157	C	T	CDH1	c.2245C>T	NM_004360.5	NP_004351.1:p.(Arg749Trp)	NC_000016.9:g.68862157C>T	VUS	1 lab	b0ea6a471f
11:76853808 MYO7A C>T	11	76853808	76853808	C	T	MYO7A	c.72C>T	NM_000260.4	NP_000251.3:p.(Ile24=)	NC_000011.9:g.76853808C>T	(Likely) benign	1 lab	b1080f6d5e
18:19433084 MIB1 A>G	18	19433084	19433084	A	G	MIB1	c.2587-17A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19433084A>G	(Likely) benign	1 lab	b08ff57aa3
2:241661319 KIF1A G>A	2	241661319	241661319	G	A	KIF1A	c.4666-18C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241661319G>A	(Likely) benign	1 lab	b092f9e129
6:119137288 MCM9 T>C	6	119137288	119137288	T	C	MCM9	c.2131A>G	NM_017696.3	NP_060166.2:p.(Ser711Gly)	NC_000006.11:g.119137288T>C	VUS	1 lab	b096ca374c
5:58271499 PDE4D G>A	5	58271499	58271499	G	A	PDE4D	c.1998C>T	NM_001104631.2	NP_001098101.1:p.(Ser666=)	NC_000005.9:g.58271499G>A	(Likely) benign	1 lab	b09bb1926b
1:74835222 FPGT-TNNI3K A>G	1	74835222	74835222	A	G	FPGT-TNNI3K	c.1923A>G	NM_001112808.3	NP_001106279.3:p.(Gln641=)	NC_000001.10:g.74835222A>G	(Likely) benign	1 lab	b09cd56c86
1:21076151 MISSING Ref too long to show for this DEL>C	1	21076151	21117874	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.21076153_21117874del	VUS	1 lab	b09cd9b412
11:32190445 MISSING Ref too long to show for this DEL>C	11	32190445	32542287	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.32190450_32542287del	(Likely) pathogenic	1 lab	b09e1907d9
14:94849061 SERPINA1 C>A	14	94849061	94849061	C	A	SERPINA1	c.514G>T	NM_001127701.2	NP_001121173.1:p.(Gly172Trp)	NC_000014.8:g.94849061C>A	VUS	1 lab	b09ea226fc
1:11174850 MTOR C>T	1	11174850	11174850	C	T	MTOR	c.7164+20G>A	NM_001386500.1	NP_001373429.1:p.?	NC_000001.10:g.11174850C>T	(Likely) benign	1 lab	b09f25e0d0
7:100275103 GNB2 G>A	7	100275103	100275103	G	A	GNB2	c.268-18G>A	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100275103G>A	(Likely) benign	1 lab	b0a7e32225
16:46743550 MYLK3 G>A	16	46743550	46743550	G	A	MYLK3	c.2301C>T	NM_182493.3	NP_872299.2:p.(His767=)	NC_000016.9:g.46743550G>A	(Likely) benign	1 lab	b0a8806986
6:46517886 CYP39A1 A>Alt too long to show for this DUP	6	46517886	46542573	A	Alt too long to show for this DUP	CYP39A1	c.1250+12241_*216dup	NM_016593.5	NP_057677.2:p.?	NC_000006.11:g.46517887_46542573dup	VUS	1 lab	b0a8b3b86e
20:56284510 PMEPA1 G>C	20	56284510	56284510	G	C	PMEPA1	c.109+20C>G	NM_020182.5	NP_064567.2:p.?	NC_000020.10:g.56284510G>C	(Likely) benign	1 lab	b0abcdbaa9
2:167140954 SCN9A C>T	2	167140954	167140954	C	T	SCN9A	c.1941+42G>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167140954C>T	(Likely) benign	1 lab	b0b047e63b
2:110917729 NPHP1 C>T	2	110917729	110917729	C	T	NPHP1	c.1226G>A	NM_000272.5	NP_000263.2:p.(Arg409His)	NC_000002.11:g.110917729C>T	VUS	1 lab	b0b1ca37e2
3:18438766 SATB1 A>G	3	18438766	18438766	A	G	SATB1	c.656T>C	NM_001195470.3	NP_001182399.1:p.(Ile219Thr)	NC_000003.11:g.18438766A>G	(Likely) pathogenic	1 lab	b0b3a05b37
6:32036441 TNXB G>A	6	32036441	32036441	G	A	TNXB	c.5946C>T	NM_019105.8	NP_061978.6:p.(Pro1982=)	NC_000006.11:g.32036441G>A	(Likely) benign	1 lab	b0b518145c
7:94027682 COL1A2 A>G	7	94027682	94027682	A	G	COL1A2	c.82-12A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027682A>G	(Likely) benign	1 lab	b0b5e5c0fc
5:98223797 CHD1 A>G	5	98223797	98223797	A	G	CHD1	c.2491T>C	NM_001364113.3	NP_001351042.1:p.(Phe831Leu)	NC_000005.9:g.98223797A>G	VUS	1 lab	b0b65ff88b
7:4908615 MISSING Ref too long to show for this DEL>G	7	4908615	5584599	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.4908617_5584599del	VUS	1 lab	b0ba1a1722
19:49675034 TRPM4 A>AC	19	49675034	49675035	A	AC	TRPM4	c.1050+9dup	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49675035dup	(Likely) benign	1 lab	b0c996bd89
1:55529201 PCSK9 G>A	1	55529201	55529201	G	A	PCSK9	c.2023G>A	NM_174936.4	NP_777596.2:p.(Val675Ile)	NC_000001.10:g.55529201G>A	VUS	1 lab	b0cce38ae2
11:47356136 MYBPC3 T>C	11	47356136	47356136	T	C	MYBPC3	c.2905+457A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356136T>C	(Likely) benign	1 lab	b0cd232b36
1:45479040 UROD C>T	1	45479040	45479040	C	T	UROD	c.276+14C>T	NM_000374.5	NP_000365.3:p.?	NC_000001.10:g.45479040C>T	(Likely) benign	1 lab	b0d2407a11
17:48265475 COL1A1 A>G	17	48265475	48265475	A	G	COL1A1	c.3243T>C	NM_000088.4	NP_000079.2:p.(Val1081=)	NC_000017.10:g.48265475A>G	(Likely) benign	1 lab	b0d54e1b02
X:47065696 UBA1 G>A	X	47065696	47065696	G	A	UBA1	c.1791G>A	NM_003334.4	NP_003325.2:p.(Glu597=)	NC_000023.10:g.47065696G>A	(Likely) benign	1 lab	b0d7a2ad52
1:6528069 PLEKHG5 C>G	1	6528069	6528069	C	G	PLEKHG5	c.2827G>C	NM_198681.4	NP_941374.3:p.(Gly943Arg)	NC_000001.10:g.6528069C>G	(Likely) benign	1 lab	b0d7b8c87d
2:58453843 FANCL GA>G	2	58453843	58453855	GA	G	FANCL	c.273+19del	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58453855del	(Likely) benign	1 lab	b0d8720a11
1:74954915 TNNI3K T>C	1	74954915	74954915	T	C	TNNI3K	c.2164T>C	NM_015978.3	NP_057062.1:p.(Cys722Arg)	NC_000001.10:g.74954915T>C	VUS	1 lab	b0d9e22e14
11:68707086 IGHMBP2 A>G	11	68707086	68707086	A	G	IGHMBP2	c.2869A>G	NM_002180.3	NP_002171.2:p.(Lys957Glu)	NC_000011.9:g.68707086A>G	VUS	1 lab	b0dd35eb2c
17:68171782 KCNJ2 T>A	17	68171782	68171782	T	A	KCNJ2	c.602T>A	NM_000891.3	NP_000882.1:p.(Ile201Asn)	NC_000017.10:g.68171782T>A	(Likely) pathogenic	1 lab	b0e0084a12
8:133973237 TG A>T	8	133973237	133973237	A	T	TG	c.5402-16A>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133973237A>T	(Likely) benign	1 lab	b0e109a865
1:12027243 PLOD1 A>G	1	12027243	12027243	A	G	PLOD1	c.1755+95A>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12027243A>G	(Likely) benign	1 lab	b0e1ddf635
4:100527891 MTTP A>G	4	100527891	100527891	A	G	MTTP	c.1345-14A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100527891A>G	(Likely) benign	1 lab	b0e2b98feb
14:24550464 NRL GGGTCCCCGGAC>G	14	24550464	24550475	GGGTCCCCGGAC	G	NRL	c.684_694del	NM_006177.5	NP_006168.1:p.(Ser229LeufsTer15)	NC_000014.8:g.24550465_24550475del	VUS	1 lab	b0ea45bda2
9:35059646 VCP A>AT	9	35059646	35059655	A	AT	VCP	c.1847dup	NM_007126.5	NP_009057.1:p.(Asn616LysfsTer12)	NC_000009.11:g.35059655dup	(Likely) benign	1 lab	b0ec15e49b
13:32972771 BRCA2 C>T	13	32972771	32972771	C	T	BRCA2	c.10121C>T	NM_000059.4	NP_000050.3:p.(Thr3374Ile)	NC_000013.10:g.32972771C>T	(Likely) benign	1 lab	b0ec54136b
1:112329674 KCND3 G>A	1	112329674	112329674	G	A	KCND3	c.1161C>T	NM_004980.5	NP_004971.2:p.(Cys387=)	NC_000001.10:g.112329674G>A	(Likely) benign	1 lab	b0ee19c840
2:21230907 APOB G>C	2	21230907	21230907	G	C	APOB	c.8833C>G	NM_000384.3	NP_000375.3:p.(Gln2945Glu)	NC_000002.11:g.21230907G>C	VUS	1 lab	b0f18eb3f1
2:189863283 COL3A1 A>G	2	189863283	189863283	A	G	COL3A1	c.1978-117A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863283A>G	(Likely) benign	1 lab	b0f215d8c8
2:179441006 TTN C>T	2	179441006	179441006	C	T	TTN	c.69853G>A	NM_001267550.2	NP_001254479.2:p.(Glu23285Lys)	NC_000002.11:g.179441006C>T	VUS	1 lab	b0f2710dee
9:101304173 GABBR2 G>A	9	101304173	101304173	G	A	GABBR2	c.612C>T	NM_005458.8	NP_005449.5:p.(Asp204=)	NC_000009.11:g.101304173G>A	(Likely) benign	1 lab	b0f386dbd9
1:12040324 MFN2 A>G	1	12040324	12040324	A	G	MFN2				NC_000001.10:g.12040324A>G	(Likely) benign	1 lab	b0f6ad21c6
1:12069756 MFN2 C>T	1	12069756	12069756	C	T	MFN2	c.2177C>T	NM_014874.4	NP_055689.1:p.(Ser726Leu)	NC_000001.10:g.12069756C>T	VUS	1 lab	b0f92fa99c
15:48779389 FBN1 C>T	15	48779389	48779389	C	T	FBN1	c.3472G>A	NM_000138.5	NP_000129.3:p.(Glu1158Lys)	NC_000015.9:g.48779389C>T	(Likely) pathogenic	1 lab	b0fa1dfb2d
11:119210402 MFRP G>A	11	119210402	119210402	G	A	MFRP	c.*1267C>T	NM_031433.4	NP_113621.1:p.?	NC_000011.9:g.119210402G>A	(Likely) benign	1 lab	b0fd6598b5
19:45452079 APOC2 C>T	19	45452079	45452079	C	T	APOC2	c.177C>T	NM_000483.5	NP_000474.2:p.(Tyr59=)	NC_000019.9:g.45452079C>T	(Likely) benign	1 lab	b100b78167
12:30819157 IPO8 G>A	12	30819157	30819157	G	A	IPO8	c.1173C>T	NM_006390.4	NP_006381.2:p.(Thr391=)	NC_000012.11:g.30819157G>A	(Likely) benign	1 lab	b101ea698d
9:111651620 ELP1 A>T	9	111651620	111651620	A	T	ELP1	c.3214T>A	NM_003640.5	NP_003631.2:p.(Cys1072Ser)	NC_000009.11:g.111651620A>T	(Likely) benign	1 lab	b103a6b614
8:133899392 TG C>T	8	133899392	133899392	C	T	TG	c.1775C>T	NM_003235.5	NP_003226.4:p.(Ala592Val)	NC_000008.10:g.133899392C>T	VUS	1 lab	b10502a4c6
6:56420186 DST T>TAACTAGA	6	56420186	56420188	T	TAACTAGA	DST	c.8735_8736insTCTAGTT	NM_001144769.5	NP_001138241.1:p.(Glu2913LeufsTer10)	NC_000006.11:g.56420187_56420188insACTAGAA	VUS	1 lab	b105462811
15:48720187 FBN1 G>A	15	48720187	48720187	G	A	FBN1	c.6998-217C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720187G>A	(Likely) benign	1 lab	b106c2348c
19:8154760 FBN3 T>C	19	8154760	8154760	T	C	FBN3	c.6250+18A>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8154760T>C	(Likely) benign	1 lab	b10818c0b4
14:57268888 OTX2 G>A	14	57268888	57268888	G	A	OTX2	c.435C>T	NM_001270524.2	NP_001257453.1:p.(Ser145=)	NC_000014.8:g.57268888G>A	(Likely) benign	1 lab	b109dc0b41
X:8401013 MISSING C>Alt too long to show for this DUP	X	8401013	8587271	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.8401016_8587271dup	VUS	1 lab	b10aa41a66
10:115905407 CCDC186 T>C	10	115905407	115905407	T	C	CCDC186	c.1002A>G	NM_018017.4	NP_060487.2:p.(Lys334=)	NC_000010.10:g.115905407T>C	(Likely) benign	1 lab	b10d25c5b2
9:379890 DOCK8 T>C	9	379890	379890	T	C	DOCK8	c.2560T>C	NM_203447.4	NP_982272.2:p.(Tyr854His)	NC_000009.11:g.379890T>C	VUS	1 lab	b10dcbc082
11:95595270 MTMR2 A>ACCTATAATTCGTGACAGTCAGAGTTCCTCGTAC	11	95595270	95595271	A	ACCTATAATTCGTGACAGTCAGAGTTCCTCGTAC	MTMR2	c.142-5_142-4insGTACGAGGAACTCTGACTGTCACGAATTATAGG	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95595270_95595271insCCTATAATTCGTGACAGTCAGAGTTCCTCGTAC	(Likely) benign	1 lab	b10ee8d018
16:56536376 BBS2 G>C	16	56536376	56536376	G	C	BBS2	c.941-8C>G	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56536376G>C	(Likely) benign	1 lab	b115f9b64f
21:35821884 KCNE1 A>G	21	35821884	35821884	A	G	KCNE1	c.49T>C	NM_001127670.4	NP_001121142.1:p.(Trp17Arg)	NC_000021.8:g.35821884A>G	VUS	1 lab	b11713dd8d
12:125263061 SCARB1 C>T	12	125263061	125263061	C	T	SCARB1	c.1473G>A	NM_001082959.2	NP_001076428.1:p.(Pro491=)	NC_000012.11:g.125263061C>T	(Likely) benign	1 lab	b119f271c3
2:189940287 COL5A2 A>G	2	189940287	189940287	A	G	COL5A2	c.1060-124T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189940287A>G	(Likely) benign	1 lab	b123ed6c52
9:107594974 ABCA1 C>T	9	107594974	107594974	C	T	ABCA1	c.1390G>A	NM_005502.4	NP_005493.2:p.(Val464Met)	NC_000009.11:g.107594974C>T	(Likely) benign	1 lab	b1254864ca
18:58025924 MISSING Ref too long to show for this DEL>T	18	58025924	58128169	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.58025925_58128169del	(Likely) pathogenic	1 lab	b12915308f
7:128480656 FLNC G>T	7	128480656	128480656	G	T	FLNC	c.1604G>T	NM_001458.5	NP_001449.3:p.(Cys535Phe)	NC_000007.13:g.128480656G>T	VUS	1 lab	b1297a4c68
10:94366360 KIF11 T>TA	10	94366360	94366362	T	TA	KIF11	c.211-14dup	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94366362dup	(Likely) benign	1 lab	b12dd1df11
15:58830549 LIPC G>T	15	58830549	58830549	G	T	LIPC	c.106G>T	NM_000236.3	NP_000227.2:p.(Ala36Ser)	NC_000015.9:g.58830549G>T	VUS	1 lab	b1309cdc01
3:53757945 CACNA1D C>T	3	53757945	53757945	C	T	CACNA1D	c.2079C>T	NM_000720.4	NP_000711.1:p.(Gly693=)	NC_000003.11:g.53757945C>T	(Likely) benign	1 lab	b1316ecbc7
19:49699847 TRPM4 G>A	19	49699847	49699847	G	A	TRPM4	c.2361G>A	NM_017636.4	NP_060106.2:p.(Val787=)	NC_000019.9:g.49699847G>A	(Likely) benign	1 lab	b13251388e
6:112494018 LAMA4 T>C	6	112494018	112494018	T	C	LAMA4	c.1337-12A>G	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112494018T>C	(Likely) benign	1 lab	b133ffe1a0
2:44071632 ABCG8 C>T	2	44071632	44071632	C	T	ABCG8	c.64-14C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071632C>T	(Likely) benign	1 lab	b135cd8582
15:48737479 FBN1 G>A	15	48737479	48737479	G	A	FBN1	c.5917+94C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48737479G>A	(Likely) benign	1 lab	b136ddb9fa
6:35471369 TULP1 C>T	6	35471369	35471369	C	T	TULP1	c.1290G>A	NM_003322.6	NP_003313.3:p.(Ala430=)	NC_000006.11:g.35471369C>T	(Likely) benign	1 lab	b13a6b1d8b
1:5927921 NPHP4 G>A	1	5927921	5927921	G	A	NPHP4	c.3351C>T	NM_015102.5	NP_055917.1:p.(Ala1117=)	NC_000001.10:g.5927921G>A	(Likely) benign	1 lab	b13ba1c9e3
2:1507727 TPO C>T	2	1507727	1507727	C	T	TPO	c.2394C>T	NM_000547.6	NP_000538.3:p.(Asn798=)	NC_000002.11:g.1507727C>T	(Likely) benign	1 lab	b1400ad8aa
1:234745166 IRF2BP2 G>A	1	234745166	234745166	G	A	IRF2BP2	c.75C>T	NM_182972.3	NP_892017.2:p.(Pro25=)	NC_000001.10:g.234745166G>A	(Likely) benign	1 lab	b144110888
7:128490141 FLNC C>G	7	128490141	128490141	C	G	FLNC	c.5298+13C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490141C>G	(Likely) benign	1 lab	b147b3accb
5:57739017 MISSING Ref too long to show for this DEL>G	5	57739017	57759254	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.57739018_57759254del	VUS	1 lab	b148ff8995
15:48780730 FBN1 A>G	15	48780730	48780730	A	G	FBN1	c.3083-40T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780730A>G	(Likely) benign	1 lab	b14d100aa8
20:45353918 SLC2A10 C>G	20	45353918	45353918	C	G	SLC2A10	c.243C>G	NM_030777.4	NP_110404.1:p.(Ser81Arg)	NC_000020.10:g.45353918C>G	(Likely) pathogenic	1 lab	b14f15f1ac
2:218678617 TNS1 T>Alt too long to show for this DUP	2	218678617	218768314	T	Alt too long to show for this DUP	TNS1	c.321+2744_4730-79dup	NM_001387777.1	NP_001374706.1:p.?	NC_000002.11:g.218678618_218768314dup	VUS	1 lab	b1502a10a1
6:65301693 EYS C>T	6	65301693	65301693	C	T	EYS	c.4067G>A	NM_001292009.2	NP_001278938.1:p.(Arg1356His)	NC_000006.11:g.65301693C>T	(Likely) benign	1 lab	b154e6d930
2:21236224 APOB T>C	2	21236224	21236224	T	C	APOB	c.4024A>G	NM_000384.3	NP_000375.3:p.(Ile1342Val)	NC_000002.11:g.21236224T>C	(Likely) benign	1 lab	b157b1a7f2
7:116436092 MET G>A	7	116436092	116436092	G	A	MET	c.4141G>A	NM_001127500.3	NP_001120972.1:p.(Ala1381Thr)	NC_000007.13:g.116436092G>A	(Likely) benign	1 lab	b157f7b516
15:48937081 FBN1 C>T	15	48937081	48937081	C	T	FBN1	c.-115G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48937081C>T	(Likely) benign	1 lab	b158cbd57e
2:179599041 TTN T>G	2	179599041	179599041	T	G	TTN	c.15496+14A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179599041T>G	(Likely) benign	1 lab	b159d8cd32
10:124221197 HTRA1 CGCT>C	10	124221197	124221216	CGCT	C	HTRA1	c.46_48del	NM_002775.5	NP_002766.1:p.(Leu16del)	NC_000010.10:g.124221214_124221216del	(Likely) benign	1 lab	b15af12b5f
11:95578167 MTMR2 C>T	11	95578167	95578167	C	T	MTMR2	c.1120G>A	NM_001243571.2	NP_001230500.1:p.(Glu374Lys)	NC_000011.9:g.95578167C>T	VUS	1 lab	b160360101
11:68685352 IGHMBP2 G>T	11	68685352	68685352	G	T	IGHMBP2	c.1060+1G>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68685352G>T	(Likely) pathogenic	1 lab	b1631ea07c
12:111348952 MYL2 G>A	12	111348952	111348952	G	A	MYL2	c.430C>T	NM_000432.4	NP_000423.2:p.(Pro144Ser)	NC_000012.11:g.111348952G>A	VUS	1 lab	b165234102
10:55943182 PCDH15 CTTATA>C	10	55943182	55943191	CTTATA	C	PCDH15	c.1605+17_1605+21del	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55943187_55943191del	(Likely) benign	1 lab	b16625bbda
7:120480166 TSPAN12 G>A	7	120480166	120480166	G	A	TSPAN12	c.67-3C>T	NM_012338.4	NP_036470.1:p.?	NC_000007.13:g.120480166G>A	(Likely) benign	1 lab	b16a4c9f71
12:53194119 MISSING Ref too long to show for this DEL>T	12	53194119	53208427	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.53194120_53208427del	VUS	1 lab	b16e6c0cfd
1:74836033 TNNI3K C>G	1	74836033	74836033	C	G	TNNI3K	c.1729C>G	NM_015978.3	NP_057062.1:p.(Leu577Val)	NC_000001.10:g.74836033C>G	VUS	1 lab	b1734b11fa
8:19805745 LPL A>T	8	19805745	19805745	A	T	LPL	c.143A>T	NM_000237.3	NP_000228.1:p.(Asp48Val)	NC_000008.10:g.19805745A>T	(Likely) benign	1 lab	b1770d3fd8
11:47371445 MYBPC3 C>A	11	47371445	47371445	C	A	MYBPC3	c.534G>T	NM_000256.3	NP_000247.2:p.(Val178=)	NC_000011.9:g.47371445C>A	(Likely) benign	1 lab	b17d5a7aa1
11:47370434 MYBPC3 C>T	11	47370434	47370434	C	T	MYBPC3	c.655-342G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370434C>T	(Likely) benign	1 lab	b17e325841
1:201332501 TNNT2 T>C	1	201332501	201332501	T	C	TNNT2	c.493A>G	NM_001001430.3	NP_001001430.1:p.(Arg165Gly)	NC_000001.10:g.201332501T>C	VUS	1 lab	b17e364348
2:179600408 TTN C>T	2	179600408	179600408	C	T	TTN	c.14765G>A	NM_001267550.2	NP_001254479.2:p.(Ser4922Asn)	NC_000002.11:g.179600408C>T	(Likely) benign	1 lab	b1809bfe73
2:169783647 ABCB11 G>A	2	169783647	169783647	G	A	ABCB11	c.3618+19C>T	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169783647G>A	(Likely) benign	1 lab	b1830ab187
9:70881214 ZNG1C G>A	9	70881214	70881214	G	A	ZNG1C	c.654G>A	NM_201453.4	NP_958861.2:p.(Thr218=)	NC_000009.11:g.70881214G>A	(Likely) benign	1 lab	b186238b79
6:76731849 IMPG1 G>A	6	76731849	76731849	G	A	IMPG1	c.650C>T	NM_001563.4	NP_001554.2:p.(Thr217Ile)	NC_000006.11:g.76731849G>A	(Likely) benign	1 lab	b186f29090
6:76728466 IMPG1 T>G	6	76728466	76728466	T	G	IMPG1	c.776A>C	NM_001563.4	NP_001554.2:p.(Tyr259Ser)	NC_000006.11:g.76728466T>G	VUS	1 lab	b18763d380
6:16145473 MYLIP CGAG>C	6	16145473	16145482	CGAG	C	MYLIP	c.1180_1182del	NM_013262.4	NP_037394.2:p.(Glu394del)	NC_000006.11:g.16145480_16145482del	VUS	1 lab	b18ac4388d
5:140054604 HARS1 T>C	5	140054604	140054604	T	C	HARS1	c.1309A>G	NM_002109.6	NP_002100.2:p.(Lys437Glu)	NC_000005.9:g.140054604T>C	VUS	1 lab	b18ea5893c
2:125147161 CNTNAP5 Ref too long to show for this DEL>A	2	125147161	125259088	Ref too long to show for this DEL	A	CNTNAP5	c.382-27858_1063-2781del	NM_001367498.1	NP_001354427.1:p.?	NC_000002.11:g.125147162_125259088del	VUS	1 lab	b18ede606f
20:55746155 BMP7 T>C	20	55746155	55746155	T	C	BMP7	c.1156A>G	NM_001719.3	NP_001710.1:p.(Ile386Val)	NC_000020.10:g.55746155T>C	(Likely) benign	1 lab	b1946b34e0
2:1544347 TPO G>A	2	1544347	1544347	G	A	TPO	c.2619-19G>A	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1544347G>A	(Likely) benign	1 lab	b1948177d5
9:107550328 ABCA1 T>C	9	107550328	107550328	T	C	ABCA1	c.6077A>G	NM_005502.4	NP_005493.2:p.(Glu2026Gly)	NC_000009.11:g.107550328T>C	VUS	1 lab	b19818404a
X:24516925 PDK3 CT>C	X	24516925	24516937	CT	C	PDK3	c.249-9del	NM_001142386.3	NP_001135858.1:p.?	NC_000023.10:g.24516937del	(Likely) benign	1 lab	b19951a6d4
15:72767211 ARIH1 C>T	15	72767211	72767211	C	T	ARIH1	c.231C>T	NM_005744.5	NP_005735.2:p.(Gly77=)	NC_000015.9:g.72767211C>T	(Likely) benign	1 lab	b1a07014bc
18:10787199 PIEZO2 G>GA	18	10787199	10787210	G	GA	PIEZO2	c.2170-18dup	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10787210dup	(Likely) benign	1 lab	b1a1fdd9df
15:78863704 MISSING G>Alt too long to show for this DUP	15	78863704	78928916	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.78863705_78928916dup	VUS	1 lab	b1a416177c
1:173930910 RC3H1 A>G	1	173930910	173930910	A	G	RC3H1	c.2155T>C	NM_001300850.1	NP_001287779.1:p.(Tyr719His)	NC_000001.10:g.173930910A>G	VUS	1 lab	b1a64269e6
20:62120666 MISSING G>Alt too long to show for this DUP	20	62120666	62208216	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.62120667_62208216dup	(Likely) pathogenic	1 lab	b1a9cd647a
12:110230249 TRPV4 G>C	12	110230249	110230249	G	C	TRPV4	c.1825-15C>G	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110230249G>C	(Likely) benign	1 lab	b1aabd6442
9:34371788 MYORG A>T	9	34371788	34371788	A	T	MYORG	c.1154T>A	NM_020702.5	NP_065753.2:p.(Phe385Tyr)	NC_000009.11:g.34371788A>T	(Likely) benign	1 lab	b1ab4461bb
11:108141989 ATM C>T	11	108141989	108141989	C	T	ATM	c.2933C>T	NM_000051.4	NP_000042.3:p.(Ser978Phe)	NC_000011.9:g.108141989C>T	VUS	1 lab	b1ac09c27e
2:179638854 TTN G>A	2	179638854	179638854	G	A	TTN	c.7058-17C>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179638854G>A	(Likely) benign	1 lab	b1ac8e9fb6
2:179599648 TTN G>A	2	179599648	179599648	G	A	TTN	c.15003C>T	NM_001267550.2	NP_001254479.2:p.(Leu5001=)	NC_000002.11:g.179599648G>A	(Likely) benign	1 lab	b1acd1f2d8
15:48787337 FBN1 C>T	15	48787337	48787337	C	T	FBN1	c.2660G>A	NM_000138.5	NP_000129.3:p.(Cys887Tyr)	NC_000015.9:g.48787337C>T	(Likely) pathogenic	1 lab	b1b0bba4e0
11:128623806 FLI1 T>Alt too long to show for this DUP	11	128623806	128671951	T	Alt too long to show for this DUP	FLI1	c.19-4202_656-3310dup	NM_002017.5	NP_002008.2:p.?	NC_000011.9:g.128623808_128671951dup	VUS	1 lab	b1b1dd3544
8:134251151 NDRG1 G>A	8	134251151	134251151	G	A	NDRG1	c.1155C>T	NM_001135242.2	NP_001128714.1:p.(Ala385=)	NC_000008.10:g.134251151G>A	(Likely) benign	1 lab	b1b7c2f856
7:141443388 SSBP1 G>A	7	141443388	141443388	G	A	SSBP1	c.113G>A	NM_003143.3	NP_003134.1:p.(Arg38Gln)	NC_000007.13:g.141443388G>A	(Likely) pathogenic	1 lab	b1b9cd5f1e
2:21225143 APOB A>G	2	21225143	21225143	A	G	APOB	c.13151T>C	NM_000384.3	NP_000375.3:p.(Leu4384Pro)	NC_000002.11:g.21225143A>G	VUS	1 lab	b1ba582c17
14:88429775 GALC C>A	14	88429775	88429775	C	A	GALC	c.1114G>T	NM_000153.4	NP_000144.2:p.(Ala372Ser)	NC_000014.8:g.88429775C>A	VUS	1 lab	b1c3ed892c
11:117691393 FXYD2 C>T	11	117691393	117691393	C	T	FXYD2	c.195G>A	NM_001680.5	NP_001671.2:p.(Glu65=)	NC_000011.9:g.117691393C>T	(Likely) benign	1 lab	b1c9a88974
1:12062048 MFN2 T>C	1	12062048	12062048	T	C	MFN2	c.1048T>C	NM_014874.4	NP_055689.1:p.(Ser350Pro)	NC_000001.10:g.12062048T>C	(Likely) pathogenic	1 lab	b1cad942ab
2:241685586 KIF1A G>A	2	241685586	241685586	G	A	KIF1A	c.3072C>T	NM_001244008.2	NP_001230937.1:p.(Ser1024=)	NC_000002.11:g.241685586G>A	(Likely) benign	1 lab	b1cb44b4d9
15:48818328 FBN1 T>TA	15	48818328	48818329	T	TA	FBN1	c.986dup	NM_000138.5	NP_000129.3:p.(Asp330ArgfsTer18)	NC_000015.9:g.48818329dup	(Likely) pathogenic	1 lab	b1f23a9567
15:43678542 TUBGCP4 C>CATAT	15	43678542	43678543	C	CATAT	TUBGCP4	c.1014+14_1014+15insATAT	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43678542_43678543insATAT	(Likely) benign	1 lab	b1cbafd691
7:151262890 PRKAG2 T>C	7	151262890	151262890	T	C	PRKAG2	c.1315A>G	NM_016203.4	NP_057287.2:p.(Ile439Val)	NC_000007.13:g.151262890T>C	VUS	1 lab	b1cc48e5b4
11:47362196 MYBPC3 C>T	11	47362196	47362196	C	T	MYBPC3	c.1927+358G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362196C>T	(Likely) benign	1 lab	b1cf78a3d5
8:59404346 CYP7A1 T>C	8	59404346	59404346	T	C	CYP7A1	c.1216-13A>G	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404346T>C	(Likely) benign	1 lab	b1d09da2c0
11:47373555 MYBPC3 C>T	11	47373555	47373555	C	T	MYBPC3	c.26-499G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373555C>T	(Likely) benign	1 lab	b1d18851ae
16:89346086 ANKRD11 G>A	16	89346086	89346086	G	A	ANKRD11	c.6864C>T	NM_001256182.2	NP_001243111.1:p.(Ala2288=)	NC_000016.9:g.89346086G>A	(Likely) benign	1 lab	b1d2210945
5:65307924 ERBIN A>G	5	65307924	65307924	A	G	ERBIN	c.355A>G	NM_001253697.2	NP_001240626.1:p.(Ile119Val)	NC_000005.9:g.65307924A>G	(Likely) benign	1 lab	b1d29e41e9
5:89975348 ADGRV1 C>CT	5	89975348	89975349	C	CT	ADGRV1	c.5444-17dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89975349dup	(Likely) benign	1 lab	b1d62e53e7
13:52548874 ATP7B A>G	13	52548874	52548874	A	G	ATP7B	c.482T>C	NM_000053.4	NP_000044.2:p.(Ile161Thr)	NC_000013.10:g.52548874A>G	VUS	1 lab	b1dab2aff4
17:45299834 MYL4 G>A	17	45299834	45299834	G	A	MYL4	c.565+11G>A	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45299834G>A	(Likely) benign	1 lab	b1dc5433be
12:111351977 MYL2 C>T	12	111351977	111351977	C	T	MYL2	c.274+13G>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351977C>T	(Likely) benign	1 lab	b1e25a88d8
12:104378698 TDG G>GAGGATGCAAAGAAGATGGCTGTTAA	12	104378698	104378699	G	GAGGATGCAAAGAAGATGGCTGTTAA	TDG	c.964_964+1insAGGATGCAAAGAAGATGGCTGTTAA	NM_003211.6	NP_003202.3:p.?	NC_000012.11:g.104378698_104378699insAGGATGCAAAGAAGATGGCTGTTAA	(Likely) benign	1 lab	b1e261753f
9:34989734 DNAJB5 C>T	9	34989734	34989734	C	T	DNAJB5				NC_000009.11:g.34989734C>T	VUS	1 lab	b1e2d32242
1:112811489 MISSING Ref too long to show for this DEL>A	1	112811489	113676659	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.112811492_113676659del	VUS	1 lab	b1edaba970
2:152349902 NEB C>T	2	152349902	152349902	C	T	NEB	c.24835G>A	NM_001271208.2	NP_001258137.2:p.(Glu8279Lys)	NC_000002.11:g.152349902C>T	VUS	1 lab	b1eee2ac8a
9:107550225 ABCA1 G>A	9	107550225	107550225	G	A	ABCA1	c.6180C>T	NM_005502.4	NP_005493.2:p.(Ile2060=)	NC_000009.11:g.107550225G>A	(Likely) benign	1 lab	b1ef58bb1f
14:81609779 TSHR G>A	14	81609779	81609779	G	A	TSHR	c.1377G>A	NM_000369.5	NP_000360.2:p.(Ala459=)	NC_000014.8:g.81609779G>A	(Likely) benign	1 lab	b1f502a961
6:16145487 MYLIP A>C	6	16145487	16145487	A	C	MYLIP	c.1187A>C	NM_013262.4	NP_037394.2:p.(Asn396Thr)	NC_000006.11:g.16145487A>C	VUS	1 lab	b1f9c0da08
11:73984657 P4HA3 G>GA	11	73984657	73984668	G	GA	P4HA3	c.1336-6dup	NM_182904.5	NP_878907.1:p.?	NC_000011.9:g.73984668dup	(Likely) benign	1 lab	b1f9d2a857
1:237015878 MTR C>T	1	237015878	237015878	C	T	MTR	c.1753C>T	NM_000254.3	NP_000245.2:p.(Arg585Ter)	NC_000001.10:g.237015878C>T	(Likely) pathogenic	1 lab	b1fcaf3ffa
5:82808072 VCAN C>T	5	82808072	82808072	C	T	VCAN	c.899C>T	NM_004385.5	NP_004376.2:p.(Ser300Leu)	NC_000005.9:g.82808072C>T	(Likely) benign	1 lab	b202399239
2:219679302 CYP27A1 G>A	2	219679302	219679302	G	A	CYP27A1	c.1298G>A	NM_000784.4	NP_000775.1:p.(Arg433Gln)	NC_000002.11:g.219679302G>A	(Likely) pathogenic	1 lab	b203123f81
12:32949136 PKP2 A>G	12	32949136	32949136	A	G	PKP2	c.2396T>C	NM_004572.4	NP_004563.2:p.(Leu799Ser)	NC_000012.11:g.32949136A>G	VUS	1 lab	b20bdabf11
17:48273490 COL1A1 C>G	17	48273490	48273490	C	G	COL1A1	c.1002+26G>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273490C>G	(Likely) benign	1 lab	b20dee4c26
4:13485793 RAB28 C>T	4	13485793	13485793	C	T	RAB28	c.-19G>A	NM_004249.4	NP_004240.2:p.?	NC_000004.11:g.13485793C>T	(Likely) benign	1 lab	b374fb3edc
1:209963926 IRF6 C>T	1	209963926	209963926	C	T	IRF6	c.974G>A	NM_006147.4	NP_006138.1:p.(Gly325Glu)	NC_000001.10:g.209963926C>T	(Likely) pathogenic	1 lab	b20e329b05
11:47353939 MYBPC3 GAAAC>G	11	47353939	47353948	GAAAC	G	MYBPC3	c.3628-134_3628-131del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353945_47353948del	(Likely) benign	1 lab	b210cd8fa8
16:81397494 GAN C>T	16	81397494	81397494	C	T	GAN	c.1182C>T	NM_022041.4	NP_071324.1:p.(Tyr394=)	NC_000016.9:g.81397494C>T	(Likely) benign	1 lab	b2117d2f0d
1:25890161 LDLRAP1 C>T	1	25890161	25890161	C	T	LDLRAP1	c.626C>T	NM_015627.3	NP_056442.2:p.(Thr209Ile)	NC_000001.10:g.25890161C>T	VUS	1 lab	b212b07b38
8:133184864 KCNQ3 G>A	8	133184864	133184864	G	A	KCNQ3	c.1121C>T	NM_004519.4	NP_004510.1:p.(Pro374Leu)	NC_000008.10:g.133184864G>A	VUS	1 lab	b21511f2cc
12:50501573 GPD1 G>A	12	50501573	50501573	G	A	GPD1	c.836G>A	NM_005276.4	NP_005267.2:p.(Arg279His)	NC_000012.11:g.50501573G>A	VUS	1 lab	b21a886b91
16:88804856 PIEZO1 G>A	16	88804856	88804856	G	A	PIEZO1	c.635-8C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88804856G>A	(Likely) benign	1 lab	b21a8ef6ae
12:32760956 FGD4 C>T	12	32760956	32760956	C	T	FGD4	c.27C>T	NM_001304484.2	NP_001291413.1:p.(Pro9=)	NC_000012.11:g.32760956C>T	(Likely) benign	1 lab	b21bc9c900
X:70444113 GJB1 G>A	X	70444113	70444113	G	A	GJB1	c.556G>A	NM_000166.6	NP_000157.1:p.(Glu186Lys)	NC_000023.10:g.70444113G>A	(Likely) pathogenic	1 lab	b21d479cce
8:59409183 CYP7A1 C>G	8	59409183	59409183	C	G	CYP7A1	c.888G>C	NM_000780.4	NP_000771.2:p.(Trp296Cys)	NC_000008.10:g.59409183C>G	VUS	1 lab	b21e7c5149
5:42611916 MISSING C>Alt too long to show for this DUP	5	42611916	42850304	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.42611917_42850304dup	(Likely) pathogenic	1 lab	b22077136f
19:15291826 NOTCH3 G>C	19	15291826	15291826	G	C	NOTCH3	c.2940C>G	NM_000435.3	NP_000426.2:p.(Ala980=)	NC_000019.9:g.15291826G>C	(Likely) benign	1 lab	b221686784
17:41228511 BRCA1 A>G	17	41228511	41228511	A	G	BRCA1	c.4478T>C	NM_007294.4	NP_009225.1:p.(Val1493Ala)	NC_000017.10:g.41228511A>G	(Likely) benign	1 lab	b221824702
20:31024961 ASXL1 G>A	20	31024961	31024961	G	A	ASXL1	c.4446G>A	NM_015338.6	NP_056153.2:p.(Ala1482=)	NC_000020.10:g.31024961G>A	(Likely) benign	1 lab	b223445a5d
16:28884062 SH2B1 G>A	16	28884062	28884062	G	A	SH2B1	c.1933G>A	NM_001145797.2	NP_001139269.1:p.(Val645Met)	NC_000016.9:g.28884062G>A	(Likely) benign	1 lab	b224ced309
7:72643630 MISSING Ref too long to show for this DEL>T	7	72643630	74142215	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72643631_74142215del	(Likely) pathogenic	1 lab	b22652fa3e
2:21250816 APOB C>G	2	21250816	21250816	C	G	APOB	c.1951G>C	NM_000384.3	NP_000375.3:p.(Ala651Pro)	NC_000002.11:g.21250816C>G	(Likely) benign	1 lab	b2286a324f
6:7585166 DSP T>A	6	7585166	7585166	T	A	DSP	c.7671T>A	NM_004415.4	NP_004406.2:p.(Phe2557Leu)	NC_000006.11:g.7585166T>A	VUS	1 lab	b22b86c65f
8:59404896 CYP7A1 A>G	8	59404896	59404896	A	G	CYP7A1	c.1215+16T>C	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404896A>G	(Likely) benign	1 lab	b22f3d6479
4:17503433 QDPR C>T	4	17503433	17503433	C	T	QDPR	c.345G>A	NM_000320.3	NP_000311.2:p.(Ser115=)	NC_000004.11:g.17503433C>T	(Likely) benign	1 lab	b23008cd42
14:36988211 NKX2-1 G>T	14	36988211	36988211	G	T	NKX2-1	c.352C>A	NM_003317.4	NP_003308.1:p.(Pro118Thr)	NC_000014.8:g.36988211G>T	VUS	1 lab	b23886cc91
17:39274448 KRTAP4-11 A>G	17	39274448	39274448	A	G	KRTAP4-11	c.120T>C	NM_033059.4	NP_149048.2:p.(Cys40=)	NC_000017.10:g.39274448A>G	(Likely) benign	1 lab	b2398834a0
9:107564321 ABCA1 G>C	9	107564321	107564321	G	C	ABCA1	c.4698+14C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564321G>C	VUS	1 lab	b239fdd803
3:154836599 MME AG>A	3	154836599	154836601	AG	A	MME	c.720+1del	NM_007288.3	NP_009219.2:p.?	NC_000003.11:g.154836601del	(Likely) pathogenic	1 lab	b23b8ef105
1:63063661 ANGPTL3 G>T	1	63063661	63063661	G	T	ANGPTL3	c.424G>T	NM_014495.4	NP_055310.1:p.(Glu142Ter)	NC_000001.10:g.63063661G>T	(Likely) pathogenic	1 lab	b23cae1dab
15:48781915 FBN1 A>T	15	48781915	48781915	A	T	FBN1	c.3082+133T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48781915A>T	(Likely) benign	1 lab	b23d69eb8b
14:81610348 TSHR T>C	14	81610348	81610348	T	C	TSHR	c.1946T>C	NM_000369.5	NP_000360.2:p.(Leu649Pro)	NC_000014.8:g.81610348T>C	VUS	1 lab	b23d6b2077
11:1016924 MUC6 G>A	11	1016924	1016924	G	A	MUC6	c.5877C>T	NM_005961.3	NP_005952.2:p.(Ser1959=)	NC_000011.9:g.1016924G>A	(Likely) benign	1 lab	b23df3d8ec
14:23866459 MYH6 A>G	14	23866459	23866459	A	G	MYH6	c.1970T>C	NM_002471.4	NP_002462.2:p.(Leu657Pro)	NC_000014.8:g.23866459A>G	VUS	1 lab	b24008abc4
15:58834114 LIPC G>A	15	58834114	58834114	G	A	LIPC	c.404G>A	NM_000236.3	NP_000227.2:p.(Arg135His)	NC_000015.9:g.58834114G>A	(Likely) benign	1 lab	b24024f411
2:21236003 APOB G>A	2	21236003	21236003	G	A	APOB	c.4216+29C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236003G>A	(Likely) benign	1 lab	b24067b02b
8:10470349 RP1L1 A>ACT	8	10470349	10470358	A	ACT	RP1L1	c.1257_1258dup	NM_178857.6	NP_849188.4:p.(Val420GlufsTer71)	NC_000008.10:g.10470357_10470358dup	VUS	1 lab	b240e956b8
6:35474064 TULP1 C>T	6	35474064	35474064	C	T	TULP1	c.823-8G>A	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35474064C>T	(Likely) benign	1 lab	b2650373a4
2:179466134 TTN AT>A	2	179466134	179466136	AT	A	TTN	c.55589del	NM_001267550.2	NP_001254479.2:p.(Asn18530IlefsTer10)	NC_000002.11:g.179466136del	(Likely) pathogenic	1 lab	b24112ab23
8:10468735 RP1L1 C>A	8	10468735	10468735	C	A	RP1L1	c.2873G>T	NM_178857.6	NP_849188.4:p.(Arg958Leu)	NC_000008.10:g.10468735C>A	VUS	1 lab	b2422ad6ea
6:100896544 SIM1 C>T	6	100896544	100896544	C	T	SIM1	c.554G>A	NM_005068.3	NP_005059.2:p.(Cys185Tyr)	NC_000006.11:g.100896544C>T	VUS	1 lab	b24280ccce
15:79760632 MISSING G>Alt too long to show for this DUP	15	79760632	79879234	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.79760633_79879234dup	VUS	1 lab	b243f019be
21:38308911 HLCS G>A	21	38308911	38308911	G	A	HLCS	c.834C>T	NM_001242784.3	NP_001229713.1:p.(Ser278=)	NC_000021.8:g.38308911G>A	(Likely) benign	1 lab	b2444516ee
1:12024374 PLOD1 T>G	1	12024374	12024374	T	G	PLOD1	c.1328+17T>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12024374T>G	(Likely) benign	1 lab	b24884695e
15:72040777 THSD4 C>T	15	72040777	72040777	C	T	THSD4	c.2259C>T	NM_024817.2	NP_079093.2:p.(Gly753=)	NC_000015.9:g.72040777C>T	(Likely) benign	1 lab	b248f575af
19:11238762 LDLR G>T	19	11238762	11238762	G	T	LDLR	c.2389+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238762G>T	(Likely) pathogenic	1 lab	b249538376
1:13001011 PRAMEF6 A>G	1	13001011	13001011	A	G	PRAMEF6	c.672T>C	NM_001010889.2	NP_001010889.1:p.(Phe224=)	NC_000001.10:g.13001011A>G	(Likely) benign	1 lab	b24a7717fb
7:128483334 FLNC A>G	7	128483334	128483334	A	G	FLNC	c.2602A>G	NM_001458.5	NP_001449.3:p.(Ser868Gly)	NC_000007.13:g.128483334A>G	VUS	1 lab	b24b006f43
2:50574008 NRXN1 GCGCCGCCGCCGCCGC>G	2	50574008	50574039	GCGCCGCCGCCGCCGC	G	NRXN1	c.65_79del	NM_001330092.2	NP_001317021.1:p.(Gly22_Gly26del)	NC_000002.11:g.50574025_50574039del	(Likely) benign	1 lab	b24e610f3d
9:107595020 ABCA1 A>G	9	107595020	107595020	A	G	ABCA1	c.1344T>C	NM_005502.4	NP_005493.2:p.(Phe448=)	NC_000009.11:g.107595020A>G	(Likely) benign	1 lab	b24eb06981
8:1791592 ARHGEF10 C>T	8	1791592	1791592	C	T	ARHGEF10	c.99C>T	NM_001308153.2	NP_001295082.1:p.(Pro33=)	NC_000008.10:g.1791592C>T	(Likely) benign	1 lab	b24edb8713
2:219679651 CYP27A1 G>C	2	219679651	219679651	G	C	CYP27A1	c.1494G>C	NM_000784.4	NP_000775.1:p.(Lys498Asn)	NC_000002.11:g.219679651G>C	(Likely) benign	1 lab	b24fe4ca06
11:47369743 MYBPC3 A>G	11	47369743	47369743	A	G	MYBPC3	c.772+232T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369743A>G	(Likely) benign	1 lab	b25719707c
19:11230838 LDLR T>A	19	11230838	11230838	T	A	LDLR	c.1916T>A	NM_000527.5	NP_000518.1:p.(Val639Asp)	NC_000019.9:g.11230838T>A	(Likely) pathogenic	1 lab	b25a15d3bc
10:112570411 RBM20 G>A	10	112570411	112570411	G	A	RBM20	c.1880+191G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112570411G>A	(Likely) benign	1 lab	b25baa28a3
2:44053305 ABCG5 CT>C	2	44053305	44053319	CT	C	ABCG5	c.774+215del	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053319del	(Likely) benign	1 lab	b25c6adab5
15:58853124 LIPC T>C	15	58853124	58853124	T	C	LIPC	c.1113T>C	NM_000236.3	NP_000227.2:p.(Thr371=)	NC_000015.9:g.58853124T>C	(Likely) benign	1 lab	b25c7e51a2
16:57003917 CETP A>G	16	57003917	57003917	A	G	CETP	c.527+4A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003917A>G	VUS	1 lab	b25df35eb5
9:107568708 ABCA1 G>A	9	107568708	107568708	G	A	ABCA1	c.4278C>T	NM_005502.4	NP_005493.2:p.(Asp1426=)	NC_000009.11:g.107568708G>A	(Likely) benign	1 lab	b2608d26d5
X:57619216 ZXDB T>C	X	57619216	57619216	T	C	ZXDB	c.735T>C	NM_007157.4	NP_009088.1:p.(Pro245=)	NC_000023.10:g.57619216T>C	(Likely) benign	1 lab	b2611c7bc2
3:38629374 SCN5A C>A	3	38629374	38629374	C	A	SCN5A	c.2263-310G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38629374C>A	(Likely) benign	1 lab	b26182d26c
1:110152708 GNAT2 C>T	1	110152708	110152708	C	T	GNAT2	c.257G>A	NM_005272.5	NP_005263.1:p.(Arg86Gln)	NC_000001.10:g.110152708C>T	(Likely) benign	1 lab	b263566e7a
19:11222305 LDLR C>A	19	11222305	11222305	C	A	LDLR	c.1176C>A	NM_000527.5	NP_000518.1:p.(Cys392Ter)	NC_000019.9:g.11222305C>A	(Likely) pathogenic	1 lab	b2641ac36b
X:70444158 GJB1 T>C	X	70444158	70444158	T	C	GJB1	c.601T>C	NM_000166.6	NP_000157.1:p.(Cys201Arg)	NC_000023.10:g.70444158T>C	(Likely) pathogenic	1 lab	b2673505a1
16:85143849 CIBAR2 C>CCTGCA	16	85143849	85143856	C	CCTGCA	CIBAR2	c.233_237dup	NM_198491.3	NP_940893.1:p.(Asp80CysfsTer20)	NC_000016.9:g.85143852_85143856dup	VUS	1 lab	b26923ff9f
10:103688410 ARMH3 Ref too long to show for this DEL>A	10	103688410	103704740	Ref too long to show for this DEL	A	ARMH3	c.1706-5044_1781+11209del	NM_024541.3	NP_078817.2:p.?	NC_000010.10:g.103688412_103704740del	VUS	1 lab	b26c5f9319
11:2466446 KCNQ1 C>T	11	2466446	2466446	C	T	KCNQ1	c.118C>T	NM_000218.3	NP_000209.2:p.(Leu40=)	NC_000011.9:g.2466446C>T	(Likely) benign	1 lab	b26e223261
2:21228437 APOB A>G	2	21228437	21228437	A	G	APOB	c.11303T>C	NM_000384.3	NP_000375.3:p.(Ile3768Thr)	NC_000002.11:g.21228437A>G	VUS	1 lab	b271a9142e
1:147230625 GJA5 G>C	1	147230625	147230625	G	C	GJA5	c.722C>G	NM_005266.7	NP_005257.2:p.(Pro241Arg)	NC_000001.10:g.147230625G>C	VUS	1 lab	b2726a3664
8:19822581 LPL C>T	8	19822581	19822581	C	T	LPL	c.1428-240C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822581C>T	(Likely) benign	1 lab	b279d6f6e4
8:99625946 STK3 A>Alt too long to show for this DUP	8	99625946	99756689	A	Alt too long to show for this DUP	STK3	c.351+4815_685-17550dup	NM_006281.4	NP_006272.2:p.?	NC_000008.10:g.99625947_99756689dup	VUS	1 lab	b27ca7b804
17:48273891 COL1A1 T>C	17	48273891	48273891	T	C	COL1A1	c.859-2A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273891T>C	(Likely) pathogenic	1 lab	b27d4ab935
9:107595053 ABCA1 C>T	9	107595053	107595053	C	T	ABCA1	c.1312-1G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595053C>T	(Likely) pathogenic	1 lab	b27dee6267
14:23902021 MYH7 A>G	14	23902021	23902021	A	G	MYH7	c.346-17T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23902021A>G	(Likely) benign	1 lab	b281336728
2:44066243 ABCG8 C>A	2	44066243	44066243	C	A	ABCG8	c.51C>A	NM_022437.3	NP_071882.1:p.(Pro17=)	NC_000002.11:g.44066243C>A	(Likely) benign	1 lab	b2815db8da
2:179507008 TTN G>A	2	179507008	179507008	G	A	TTN	c.40514C>T	NM_001267550.2	NP_001254479.2:p.(Pro13505Leu)	NC_000002.11:g.179507008G>A	VUS	1 lab	b28167e69c
2:179586867 TTN G>A	2	179586867	179586867	G	A	TTN	c.22529-6C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179586867G>A	(Likely) benign	1 lab	b2827f00b0
15:85406347 ALPK3 C>T	15	85406347	85406347	C	T	ALPK3	c.4410+201C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406347C>T	(Likely) benign	1 lab	b282a27efb
X:70443645 GJB1 A>T	X	70443645	70443645	A	T	GJB1	c.88A>T	NM_000166.6	NP_000157.1:p.(Ile30Phe)	NC_000023.10:g.70443645A>T	VUS	1 lab	b283066898
19:43441193 PSG7 A>G	19	43441193	43441193	A	G	PSG7	c.36T>C	NM_002783.3	NP_002774.2:p.(His12=)	NC_000019.9:g.43441193A>G	(Likely) benign	1 lab	b28a2a4920
15:89753915 RLBP1 G>A	15	89753915	89753915	G	A	RLBP1	c.795+15C>T	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89753915G>A	(Likely) benign	1 lab	b28bd77824
19:11223682 LDLR T>G	19	11223682	11223682	T	G	LDLR	c.1187-272T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223682T>G	(Likely) benign	1 lab	b28ceb9efb
2:48050498 FBXO11 C>A	2	48050498	48050498	C	A	FBXO11	c.1400G>T	NM_001190274.2	NP_001177203.1:p.(Gly467Val)	NC_000002.11:g.48050498C>A	(Likely) pathogenic	1 lab	b28fe8ebac
18:34205580 FHOD3 G>A	18	34205580	34205580	G	A	FHOD3	c.1064G>A	NM_001281740.3	NP_001268669.1:p.(Arg355Gln)	NC_000018.9:g.34205580G>A	(Likely) benign	1 lab	b2907880fc
16:1004447 LMF1 G>C	16	1004447	1004447	G	C	LMF1	c.86C>G	NM_001352019.2	NP_001338948.1:p.(Ser29Cys)	NC_000016.9:g.1004447G>C	VUS	1 lab	b295eee376
X:70444059 GJB1 T>C	X	70444059	70444059	T	C	GJB1	c.502T>C	NM_000166.6	NP_000157.1:p.(Cys168Arg)	NC_000023.10:g.70444059T>C	(Likely) pathogenic	1 lab	b29a128f17
15:48726858 FBN1 A>T	15	48726858	48726858	A	T	FBN1	c.6549T>A	NM_000138.5	NP_000129.3:p.(Asn2183Lys)	NC_000015.9:g.48726858A>T	VUS	1 lab	b29a766cc1
7:73471560 ELN T>C	7	73471560	73471560	T	C	ELN	c.1358-410T>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471560T>C	(Likely) benign	1 lab	b29c3aaf51
16:2134608 TSC2 C>G	16	2134608	2134608	C	G	TSC2	c.4385C>G	NM_000548.5	NP_000539.2:p.(Thr1462Ser)	NC_000016.9:g.2134608C>G	VUS	1 lab	b29d7aae43
16:81390562 GAN G>A	16	81390562	81390562	G	A	GAN	c.806G>A	NM_022041.4	NP_071324.1:p.(Arg269Gln)	NC_000016.9:g.81390562G>A	(Likely) pathogenic	1 lab	b2a185c444
1:12024895 PLOD1 G>A	1	12024895	12024895	G	A	PLOD1	c.1470+53G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12024895G>A	(Likely) benign	1 lab	b2a3d7ef2d
15:56946703 ZNF280D T>TA	15	56946703	56946713	T	TA	ZNF280D	c.2058-3dup	NM_017661.4	NP_060131.2:p.?	NC_000015.9:g.56946713dup	(Likely) benign	1 lab	b2abd77f00
2:179307990 PRKRA G>GCCCCCT	2	179307990	179307991	G	GCCCCCT	PRKRA	c.481+3_481+4insAGGGGG	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179307990_179307991insCCCCCT	(Likely) benign	1 lab	b2acb79660
3:141272680 RASA2 C>T	3	141272680	141272680	C	T	RASA2	c.528-19C>T	NM_001303246.3	NP_001290175.1:p.?	NC_000003.11:g.141272680C>T	(Likely) benign	1 lab	b2aefa2c20
1:220157914 EPRS1 Ref too long to show for this DEL>C	1	220157914	220176963	Ref too long to show for this DEL	C	EPRS1	c.2063+1627_3039-316del	NM_004446.3	NP_004437.2:p.?	NC_000001.10:g.220157915_220176963del	VUS	1 lab	b2af0829bd
4:187118770 CYP4V2 T>C	4	187118770	187118770	T	C	CYP4V2	c.674+14T>C	NM_207352.4	NP_997235.3:p.?	NC_000004.11:g.187118770T>C	(Likely) benign	1 lab	b2af2384b7
19:11213419 LDLR T>A	19	11213419	11213419	T	A	LDLR	c.270T>A	NM_000527.5	NP_000518.1:p.(Asp90Glu)	NC_000019.9:g.11213419T>A	(Likely) pathogenic	1 lab	b2b2d58912
3:38629260 SCN5A C>A	3	38629260	38629260	C	A	SCN5A	c.2263-196G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38629260C>A	(Likely) benign	1 lab	b2b30be617
9:119419471 ASTN2 Ref too long to show for this DEL>C	9	119419471	119484491	Ref too long to show for this DEL	C	ASTN2	c.2806+3559_2807-5400del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119419472_119484491del	VUS	1 lab	b2b4efbb13
10:75848937 VCL G>A	10	75848937	75848937	G	A	VCL	c.1023-17G>A	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75848937G>A	(Likely) benign	1 lab	b2b6620534
10:13166003 OPTN C>T	10	13166003	13166003	C	T	OPTN	c.891C>T	NM_001008211.1	NP_001008212.1:p.(Ser297=)	NC_000010.10:g.13166003C>T	(Likely) benign	1 lab	b2b9feef84
2:179600637 TTN C>T	2	179600637	179600637	C	T	TTN	c.14536G>A	NM_001267550.2	NP_001254479.2:p.(Ala4846Thr)	NC_000002.11:g.179600637C>T	VUS	1 lab	b2baa3568a
8:117870658 RAD21 A>C	8	117870658	117870658	A	C	RAD21	c.414T>G	NM_006265.3	NP_006256.1:p.(Ser138Arg)	NC_000008.10:g.117870658A>C	VUS	1 lab	b2bf7abfc1
2:179516647 TTN C>T	2	179516647	179516647	C	T	TTN	c.39343G>A	NM_001267550.2	NP_001254479.2:p.(Val13115Ile)	NC_000002.11:g.179516647C>T	(Likely) benign	1 lab	b2c3f4c120
2:21246497 APOB G>C	2	21246497	21246497	G	C	APOB	c.2504C>G	NM_000384.3	NP_000375.3:p.(Ala835Gly)	NC_000002.11:g.21246497G>C	VUS	1 lab	b2e3ac22c4
15:43888725 MISSING Ref too long to show for this DEL>A	15	43888725	43948486	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.43888726_43948486del	(Likely) pathogenic	1 lab	b2c483e4f3
6:112461009 LAMA4 A>G	6	112461009	112461009	A	G	LAMA4	c.3034T>C	NM_002290.5	NP_002281.3:p.(Tyr1012His)	NC_000006.11:g.112461009A>G	(Likely) benign	1 lab	b2c9cdab3e
5:138117688 CTNNA1 TGA>T	5	138117688	138117694	TGA	T	CTNNA1	c.80_81del	NM_001903.5	NP_001894.2:p.(Arg27ThrfsTer17)	NC_000005.9:g.138117693_138117694del	(Likely) pathogenic	1 lab	b2cbc92add
1:63069711 ANGPTL3 T>C	1	63069711	63069711	T	C	ANGPTL3	c.1003T>C	NM_014495.4	NP_055310.1:p.(Leu335=)	NC_000001.10:g.63069711T>C	(Likely) benign	1 lab	b2cec99ede
9:137645738 COL5A1 G>A	9	137645738	137645738	G	A	COL5A1	c.1762G>A	NM_000093.5	NP_000084.3:p.(Val588Met)	NC_000009.11:g.137645738G>A	(Likely) benign	1 lab	b2d558af20
19:55316299 KIR2DL4 A>G	19	55316299	55316299	A	G	KIR2DL4	c.128A>G	NM_001080772.2	NP_001074241.1:p.(Gln43Arg)	NC_000019.9:g.55316299A>G	(Likely) benign	1 lab	b2dcf96658
11:108170561 ATM A>C	11	108170561	108170561	A	C	ATM	c.5126A>C	NM_000051.4	NP_000042.3:p.(Gln1709Pro)	NC_000011.9:g.108170561A>C	VUS	1 lab	b2de5fce3b
12:125294773 SCARB1 C>T	12	125294773	125294773	C	T	SCARB1	c.789G>A	NM_005505.5	NP_005496.4:p.(Pro263=)	NC_000012.11:g.125294773C>T	(Likely) benign	1 lab	b2e01a3299
12:102164319 GNPTAB G>A	12	102164319	102164319	G	A	GNPTAB	c.978C>T	NM_024312.5	NP_077288.2:p.(Asn326=)	NC_000012.11:g.102164319G>A	(Likely) benign	1 lab	b2e19e56e9
2:179646955 TTN G>C	2	179646955	179646955	G	C	TTN	c.3364C>G	NM_001267550.2	NP_001254479.2:p.(Leu1122Val)	NC_000002.11:g.179646955G>C	VUS	1 lab	b2e6c90844
7:72577018 MISSING Ref too long to show for this DEL>G	7	72577018	74629034	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72577022_74629034del	(Likely) pathogenic	1 lab	b2e790b1db
8:19816477 LPL A>G	8	19816477	19816477	A	G	LPL	c.1019-294A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816477A>G	(Likely) benign	1 lab	b2e8a99a25
5:133942683 SAR1B C>A	5	133942683	133942683	C	A	SAR1B	c.554G>T	NM_001033503.3	NP_001028675.1:p.(Gly185Val)	NC_000005.9:g.133942683C>A	(Likely) pathogenic	1 lab	b2e996899e
17:36499324 GPR179 C>A	17	36499324	36499324	C	A	GPR179	c.349G>T	NM_001004334.4	NP_001004334.3:p.(Asp117Tyr)	NC_000017.10:g.36499324C>A	(Likely) benign	1 lab	b2eef189b8
2:179408941 TTN G>A	2	179408941	179408941	G	A	TTN	c.96015C>T	NM_001267550.2	NP_001254479.2:p.(Pro32005=)	NC_000002.11:g.179408941G>A	(Likely) benign	1 lab	b2f21561e1
11:116662473 APOA5 C>A	11	116662473	116662473	C	A	APOA5	c.49+55G>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662473C>A	(Likely) benign	1 lab	b2f2b23829
19:50779258 MYH14 G>A	19	50779258	50779258	G	A	MYH14	c.3355G>A	NM_024729.4	NP_079005.3:p.(Glu1119Lys)	NC_000019.9:g.50779258G>A	VUS	1 lab	b2f4a4a744
6:157192281 ARID1B Ref too long to show for this DEL>A	6	157192281	157203309	Ref too long to show for this DEL	A	ARID1B	c.1987-30227_1987-19201del	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157192283_157203309del	VUS	1 lab	b2f65f79dc
1:17323449 ATP13A2 T>C	1	17323449	17323449	T	C	ATP13A2	c.1195+66A>G	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17323449T>C	(Likely) benign	1 lab	b2f981b18a
22:20042705 MISSING Ref too long to show for this DEL>T	22	20042705	20058027	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.20042706_20058027del	VUS	1 lab	b2faa41b11
5:127712248 FBN2 T>C	5	127712248	127712248	T	C	FBN2	c.1972+176A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127712248T>C	(Likely) benign	1 lab	b2fb374930
8:16686192 MISSING T>Alt too long to show for this DUP	8	16686192	17297813	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.16686193_17297813dup	VUS	1 lab	b2fcb17610
8:10465088 RP1L1 G>T	8	10465088	10465088	G	T	RP1L1	c.6520C>A	NM_178857.6	NP_849188.4:p.(Gln2174Lys)	NC_000008.10:g.10465088G>T	VUS	1 lab	b2fccc37d6
10:54042028 PRKG1 C>T	10	54042028	54042028	C	T	PRKG1	c.1616C>T	NM_001098512.3	NP_001091982.1:p.(Ala539Val)	NC_000010.10:g.54042028C>T	VUS	1 lab	b2fdf43297
2:179404451 TTN A>G	2	179404451	179404451	A	G	TTN	c.98341T>C	NM_001267550.2	NP_001254479.2:p.(Cys32781Arg)	NC_000002.11:g.179404451A>G	(Likely) benign	1 lab	b30006002c
8:19817361 LPL T>G	8	19817361	19817361	T	G	LPL	c.1139+470T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817361T>G	(Likely) benign	1 lab	b3025defa1
15:58860920 LIPC C>A	15	58860920	58860920	C	A	LIPC	c.1394C>A	NM_000236.3	NP_000227.2:p.(Thr465Lys)	NC_000015.9:g.58860920C>A	VUS	1 lab	b303187e54
5:148388475 SH3TC2 G>A	5	148388475	148388475	G	A	SH3TC2	c.3417C>T	NM_024577.4	NP_078853.2:p.(Leu1139=)	NC_000005.9:g.148388475G>A	(Likely) benign	1 lab	b309b38dac
7:91722399 AKAP9 T>A	7	91722399	91722399	T	A	AKAP9	c.9359-12T>A	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91722399T>A	VUS	1 lab	b309c32da2
5:112175174 APC GA>G	5	112175174	112175176	GA	G	APC	c.3885del	NM_000038.6	NP_000029.2:p.(Ala1296GlnfsTer9)	NC_000005.9:g.112175176del	(Likely) pathogenic	1 lab	b30b9b44ed
15:93492290 CHD2 G>C	15	93492290	93492290	G	C	CHD2	c.1486G>C	NM_001271.4	NP_001262.3:p.(Ala496Pro)	NC_000015.9:g.93492290G>C	(Likely) pathogenic	1 lab	b31db1036c
1:47685592 TAL1 CACCAG>C	1	47685592	47685597	CACCAG	C	TAL1	c.791_795del	NM_003189.5	NP_003180.1:p.(Ala264GlyfsTer14)	NC_000001.10:g.47685593_47685597del	(Likely) benign	1 lab	b30c3a603e
15:48718260 FBN1 T>G	15	48718260	48718260	T	G	FBN1	c.7205-199A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48718260T>G	(Likely) benign	1 lab	b30ceedc92
9:80880281 CEP78 C>CG	9	80880281	80880282	C	CG	CEP78	c.1629-6dup	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80880282dup	(Likely) benign	1 lab	b30e5717e2
7:105901048 MISSING Ref too long to show for this DEL>A	7	105901048	105928515	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.105901049_105928515del	VUS	1 lab	b310cd07fb
16:1003416 LMF1 C>T	16	1003416	1003416	C	T	LMF1	c.-52+941G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003416C>T	(Likely) benign	1 lab	b31298c32b
3:114058010 ZBTB20 T>G	3	114058010	114058010	T	G	ZBTB20	c.2068A>C	NM_001348803.3	NP_001335732.1:p.(Thr690Pro)	NC_000003.11:g.114058010T>G	VUS	1 lab	b31393ae3e
16:3580692 CLUAP1 C>T	16	3580692	3580692	C	T	CLUAP1	c.1036+17C>T	NM_001330454.2	NP_001317383.1:p.?	NC_000016.9:g.3580692C>T	(Likely) benign	1 lab	b313ab272d
17:58235408 CA4 C>T	17	58235408	58235408	C	T	CA4	c.514-14C>T	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58235408C>T	(Likely) benign	1 lab	b3177d36f8
9:94794708 SPTLC1 C>A	9	94794708	94794708	C	A	SPTLC1	c.1429G>T	NM_001281303.2	NP_001268232.1:p.(Ala477Ser)	NC_000009.11:g.94794708C>A	VUS	1 lab	b31a925575
X:53581794 HUWE1 A>G	X	53581794	53581794	A	G	HUWE1	c.8294T>C	NM_031407.7	NP_113584.3:p.(Leu2765Pro)	NC_000023.10:g.53581794A>G	VUS	1 lab	b31b86c6c3
17:17696749 RAI1 C>T	17	17696749	17696749	C	T	RAI1	c.487C>T	NM_030665.4	NP_109590.3:p.(Gln163Ter)	NC_000017.10:g.17696749C>T	(Likely) pathogenic	1 lab	b31cf5d467
7:116435922 MET GTCTT>G	7	116435922	116435931	GTCTT	G	MET	c.3990-13_3990-10del	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116435928_116435931del	(Likely) benign	1 lab	b31d677e0b
7:44149875 AEBP1 A>T	7	44149875	44149875	A	T	AEBP1	c.1330A>T	NM_001129.5	NP_001120.3:p.(Ile444Leu)	NC_000007.13:g.44149875A>T	(Likely) benign	1 lab	b3272f2df3
9:12694204 TYRP1 G>A	9	12694204	12694204	G	A	TYRP1	c.208G>A	NM_000550.3	NP_000541.1:p.(Ala70Thr)	NC_000009.11:g.12694204G>A	VUS	1 lab	b328625e37
8:22064351 BMP1 A>C	8	22064351	22064351	A	C	BMP1	c.2234-16A>C	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22064351A>C	(Likely) benign	1 lab	b32a117dbe
X:57618849 ZXDB A>C	X	57618849	57618849	A	C	ZXDB	c.368A>C	NM_007157.4	NP_009088.1:p.(Glu123Ala)	NC_000023.10:g.57618849A>C	(Likely) benign	1 lab	b32ac887b2
19:1622406 TCF3 T>C	19	1622406	1622406	T	C	TCF3	c.558A>G	NM_003200.5	NP_003191.1:p.(Pro186=)	NC_000019.9:g.1622406T>C	(Likely) benign	1 lab	b32d41f7f7
10:89690844 PTEN GAGGT>G	10	89690844	89690853	GAGGT	G	PTEN	c.253+4_253+7del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690850_89690853del	(Likely) benign	1 lab	b32efe661f
1:228345446 GJC2 G>C	1	228345446	228345446	G	C	GJC2	c.-14G>C	NM_020435.4	NP_065168.2:p.?	NC_000001.10:g.228345446G>C	(Likely) benign	1 lab	b33245d6ba
1:55505520 PCSK9 G>A	1	55505520	55505520	G	A	PCSK9	c.10G>A	NM_174936.4	NP_777596.2:p.(Val4Ile)	NC_000001.10:g.55505520G>A	VUS	1 lab	b335fe02f7
2:189926308 COL5A2 G>A	2	189926308	189926308	G	A	COL5A2	c.2011C>T	NM_000393.5	NP_000384.2:p.(Pro671Ser)	NC_000002.11:g.189926308G>A	(Likely) benign	1 lab	b33f49c6fa
19:11200225 LDLR-AS1 A>G	19	11200225	11200225	A	G	LDLR-AS1	n.111T>C	NR_163945.1		NC_000019.9:g.11200225A>G	(Likely) pathogenic	1 lab	b33f8968f5
19:49699886 TRPM4 G>T	19	49699886	49699886	G	T	TRPM4	c.2400G>T	NM_017636.4	NP_060106.2:p.(Val800=)	NC_000019.9:g.49699886G>T	(Likely) benign	1 lab	b34094d8a0
18:2674159 SMCHD1 C>CT	18	2674159	2674171	C	CT	SMCHD1	c.638+27dup	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2674171dup	(Likely) benign	1 lab	b340afbbf8
17:79503280 FSCN2 C>T	17	79503280	79503280	C	T	FSCN2	c.1092C>T	NM_001077182.3	NP_001070650.1:p.(Ile364=)	NC_000017.10:g.79503280C>T	(Likely) benign	1 lab	b341bd0727
X:48544340 WAS C>A	X	48544340	48544340	C	A	WAS	c.469C>A	NM_000377.3	NP_000368.1:p.(Arg157Ser)	NC_000023.10:g.48544340C>A	(Likely) benign	1 lab	b3454bac63
5:177422821 PROP1 C>A	5	177422821	177422821	C	A	PROP1	c.109+5G>T	NM_006261.5	NP_006252.4:p.?	NC_000005.9:g.177422821C>A	(Likely) pathogenic	1 lab	b347d631a3
9:130982480 DNM1 C>T	9	130982480	130982480	C	T	DNM1	c.709C>T	NM_001288738.2	NP_001275667.1:p.(Arg237Trp)	NC_000009.11:g.130982480C>T	(Likely) pathogenic	1 lab	b34abca383
21:35743086 KCNE2 A>G	21	35743086	35743086	A	G	KCNE2	c.309A>G	NM_172201.2	NP_751951.1:p.(Leu103=)	NC_000021.8:g.35743086A>G	(Likely) benign	1 lab	b34b78b0e8
15:45707822 AFG2B T>C	15	45707822	45707822	T	C	AFG2B	c.1682T>C	NM_024063.3	NP_076968.2:p.(Leu561Ser)	NC_000015.9:g.45707822T>C	(Likely) pathogenic	1 lab	b34eeaf57a
16:57017328 CETP G>A	16	57017328	57017328	G	A	CETP	c.1407+5G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017328G>A	(Likely) pathogenic	1 lab	b34f464ab4
2:99012423 CNGA3 T>A	2	99012423	99012423	T	A	CNGA3	c.790T>A	NM_001298.3	NP_001289.1:p.(Leu264Ile)	NC_000002.11:g.99012423T>A	(Likely) benign	1 lab	b351cc7a56
8:19818609 LPL T>A	8	19818609	19818609	T	A	LPL	c.1322+15T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818609T>A	(Likely) benign	1 lab	b353117bbc
1:55518160 PCSK9 C>A	1	55518160	55518160	C	A	PCSK9	c.657+76C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518160C>A	(Likely) benign	1 lab	b3536197a8
2:44104770 ABCG8 CAGA>C	2	44104770	44104777	CAGA	C	ABCG8	c.1832_1834del	NM_022437.3	NP_071882.1:p.(Arg611del)	NC_000002.11:g.44104775_44104777del	VUS	1 lab	b35a3aaf25
7:153750069 DPP6 A>AGGC	7	153750069	153750071	A	AGGC	DPP6	c.165_166insGCG	NM_130797.4	NP_570629.2:p.(Glu55_Arg56insAla)	NC_000007.13:g.153750070_153750071insGCG	(Likely) benign	1 lab	b35c61efee
12:48371397 COL2A1 C>T	12	48371397	48371397	C	T	COL2A1	c.3151G>A	NM_001844.5	NP_001835.3:p.(Ala1051Thr)	NC_000012.11:g.48371397C>T	(Likely) benign	1 lab	b35ca34fcd
20:34059983 CEP250 G>A	20	34059983	34059983	G	A	CEP250	c.1050+7G>A	NM_007186.6	NP_009117.2:p.?	NC_000020.10:g.34059983G>A	(Likely) benign	1 lab	b364caded9
10:90699271 ACTA2 G>A	10	90699271	90699271	G	A	ACTA2	c.801C>T	NM_001141945.2	NP_001135417.1:p.(Ser267=)	NC_000010.10:g.90699271G>A	(Likely) benign	1 lab	b36c0e9cfb
2:179572370 TTN T>A	2	179572370	179572370	T	A	TTN	c.28924A>T	NM_001267550.2	NP_001254479.2:p.(Ser9642Cys)	NC_000002.11:g.179572370T>A	VUS	1 lab	b372360067
9:107599438 ABCA1 G>GC	9	107599438	107599439	G	GC	ABCA1	c.1195-62_1195-61insG	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599438_107599439insC	(Likely) benign	1 lab	b373ff5af3
22:21342351 LZTR1 C>T	22	21342351	21342351	C	T	LZTR1	c.453C>T	NM_006767.4	NP_006758.2:p.(Asp151=)	NC_000022.10:g.21342351C>T	(Likely) benign	1 lab	b3761a3148
17:43585697 MISSING Ref too long to show for this DEL>T	17	43585697	44213437	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.43585701_44213437del	(Likely) pathogenic	1 lab	b37647c43a
11:116661488 APOA5 C>T	11	116661488	116661488	C	T	APOA5	c.457G>A	NM_052968.5	NP_443200.2:p.(Val153Met)	NC_000011.9:g.116661488C>T	(Likely) benign	1 lab	b377034592
1:12049359 MFN2 A>G	1	12049359	12049359	A	G	MFN2	c.134A>G	NM_014874.4	NP_055689.1:p.(Gln45Arg)	NC_000001.10:g.12049359A>G	(Likely) pathogenic	1 lab	b3771ca9bd
11:108151710 ATM T>A	11	108151710	108151710	T	A	ATM	c.3403-12T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151710T>A	(Likely) benign	1 lab	b37a54ba5d
22:51121358 MISSING Ref too long to show for this DEL>A	22	51121358	51197838	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.51121359_51197838del	(Likely) pathogenic	1 lab	b380046ed4
12:122247864 SETD1B C>T	12	122247864	122247864	C	T	SETD1B	c.1013C>T	NM_001353345.2	NP_001340274.1:p.(Ala338Val)	NC_000012.11:g.122247864C>T	(Likely) benign	1 lab	b380626faa
12:118381241 MISSING T>Alt too long to show for this DUP	12	118381241	118441954	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.118381243_118441954dup	VUS	1 lab	b3811debfa
22:21713009 MISSING Ref too long to show for this DEL>C	22	21713009	24643937	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21713011_24643937del	(Likely) pathogenic	1 lab	b381d62a96
15:48818236 FBN1 T>G	15	48818236	48818236	T	G	FBN1	c.988+91A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818236T>G	(Likely) benign	1 lab	b381e4ac70
19:55286877 KIR2DL1 A>G	19	55286877	55286877	A	G	KIR2DL1	c.631A>G	NM_014218.3	NP_055033.2:p.(Lys211Glu)	NC_000019.9:g.55286877A>G	(Likely) benign	1 lab	b383b4aadb
6:30954390 MUC21 G>A	6	30954390	30954390	G	A	MUC21	c.438G>A	NM_001010909.5	NP_001010909.2:p.(Gly146=)	NC_000006.11:g.30954390G>A	(Likely) benign	1 lab	b3875625a9
7:65554698 ASL C>G	7	65554698	65554698	C	G	ASL	c.1062+16C>G	NM_001024943.2	NP_001020114.1:p.?	NC_000007.13:g.65554698C>G	(Likely) benign	1 lab	b38d95968c
10:61834573 ANK3 G>A	10	61834573	61834573	G	A	ANK3	c.6066C>T	NM_020987.5	NP_066267.2:p.(Ala2022=)	NC_000010.10:g.61834573G>A	(Likely) benign	1 lab	b38ef455a0
1:55518096 PCSK9 C>T	1	55518096	55518096	C	T	PCSK9	c.657+12C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518096C>T	(Likely) benign	1 lab	b38fc4afab
16:89689821 MISSING Ref too long to show for this DEL>T	16	89689821	89757400	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.89689822_89757400del	VUS	1 lab	b3902da55a
5:178772259 ADAMTS2 G>GGCA	5	178772259	178772285	G	GGCA	ADAMTS2	c.68_70dup	NM_014244.5	NP_055059.2:p.(Leu23dup)	NC_000005.9:g.178772283_178772285dup	(Likely) benign	1 lab	b390643ead
5:121409825 LOX C>T	5	121409825	121409825	C	T	LOX	c.918G>A	NM_002317.7	NP_002308.2:p.(Leu306=)	NC_000005.9:g.121409825C>T	(Likely) benign	1 lab	b392497854
9:107554224 ABCA1 G>A	9	107554224	107554224	G	A	ABCA1	c.5813C>T	NM_005502.4	NP_005493.2:p.(Pro1938Leu)	NC_000009.11:g.107554224G>A	VUS	1 lab	b39499f197
16:68844111 CDH1 C>T	16	68844111	68844111	C	T	CDH1	c.699C>T	NM_004360.5	NP_004351.1:p.(His233=)	NC_000016.9:g.68844111C>T	(Likely) benign	1 lab	b396e2c382
10:90982273 LIPA T>C	10	90982273	90982273	T	C	LIPA	c.889A>G	NM_000235.4	NP_000226.2:p.(Ser297Gly)	NC_000010.10:g.90982273T>C	VUS	1 lab	b3993982cf
1:215853498 USH2A A>G	1	215853498	215853498	A	G	USH2A	c.12287T>C	NM_206933.4	NP_996816.3:p.(Val4096Ala)	NC_000001.10:g.215853498A>G	VUS	1 lab	b399e29e3f
19:50755955 MYH14 C>T	19	50755955	50755955	C	T	MYH14	c.1890C>T	NM_001145809.2	NP_001139281.1:p.(Val630=)	NC_000019.9:g.50755955C>T	(Likely) benign	1 lab	b39b8f99ca
1:55518383 PCSK9 G>A	1	55518383	55518383	G	A	PCSK9	c.718G>A	NM_174936.4	NP_777596.2:p.(Gly240Ser)	NC_000001.10:g.55518383G>A	VUS	1 lab	b4c394a49a
2:21228027 APOB TG>T	2	21228027	21228028	TG	T	APOB	c.11712del	NM_000384.3	NP_000375.3:p.(Asn3904LysfsTer21)	NC_000002.11:g.21228028del	(Likely) pathogenic	1 lab	b39e201b73
15:58724330 LIPC G>T	15	58724330	58724330	G	T	LIPC	c.88+11G>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724330G>T	(Likely) benign	1 lab	b39e3a93a5
3:38598062 SCN5A T>G	3	38598062	38598062	T	G	SCN5A	c.4307A>C	NM_198056.3	NP_932173.1:p.(Glu1436Ala)	NC_000003.11:g.38598062T>G	VUS	1 lab	b3a09d5dd6
6:112575256 LAMA4 G>C	6	112575256	112575256	G	C	LAMA4	c.97C>G	NM_002290.5	NP_002281.3:p.(Pro33Ala)	NC_000006.11:g.112575256G>C	VUS	1 lab	b3a1afef05
16:67974158 LCAT G>A	16	67974158	67974158	G	A	LCAT	c.972C>T	NM_000229.2	NP_000220.1:p.(Leu324=)	NC_000016.9:g.67974158G>A	(Likely) benign	1 lab	b3a23754cf
2:44049988 ABCG5 C>T	2	44049988	44049988	C	T	ABCG5	c.1411G>A	NM_022436.3	NP_071881.1:p.(Val471Ile)	NC_000002.11:g.44049988C>T	VUS	1 lab	b3a445ccf3
3:194686196 MISSING T>Alt too long to show for this DUP	3	194686196	194880918	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.194686200_194880918dup	VUS	1 lab	b3a5fe1c5f
16:67976855 LCAT C>T	16	67976855	67976855	C	T	LCAT	c.336G>A	NM_000229.2	NP_000220.1:p.(Gly112=)	NC_000016.9:g.67976855C>T	(Likely) benign	1 lab	b3ab52be1e
9:107593430 ABCA1 T>TAA	9	107593430	107593451	T	TAA	ABCA1	c.1716-50_1716-49dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593450_107593451dup	(Likely) benign	1 lab	b3abbb842d
2:179572445 TTN C>T	2	179572445	179572445	C	T	TTN	c.25117G>A	NM_133378.4	NP_596869.4:p.(Glu8373Lys)	NC_000002.11:g.179572445C>T	VUS	1 lab	b3ac86a43c
16:919895 LMF1 G>A	16	919895	919895	G	A	LMF1	c.1404C>T	NM_022773.4	NP_073610.2:p.(Phe468=)	NC_000016.9:g.919895G>A	(Likely) benign	1 lab	b3aeb51fa6
10:69954251 MYPN C>T	10	69954251	69954251	C	T	MYPN	c.3057C>T	NM_032578.4	NP_115967.2:p.(Ile1019=)	NC_000010.10:g.69954251C>T	(Likely) benign	1 lab	b3af82fe85
4:114153423 ANK2 T>C	4	114153423	114153423	T	C	ANK2	c.483+8T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114153423T>C	(Likely) benign	1 lab	b3b443dc7e
1:152770521 LCE1D G>A	1	152770521	152770521	G	A	LCE1D	c.251G>A	NM_178352.3	NP_848129.1:p.(Arg84His)	NC_000001.10:g.152770521G>A	(Likely) benign	1 lab	b3b5bce946
22:40036950 CACNA1I C>T	22	40036950	40036950	C	T	CACNA1I	c.819C>T	NM_021096.4	NP_066919.2:p.(Gly273=)	NC_000022.10:g.40036950C>T	(Likely) benign	1 lab	b3b656e796
14:50050396 RPS29 GAA>G	14	50050396	50050407	GAA	G	RPS29	c.162+2270_162+2271del	NM_001030001.4	NP_001025172.1:p.?	NC_000014.8:g.50050406_50050407del	(Likely) benign	1 lab	b3b91826c5
7:74104524 GTF2I Ref too long to show for this DEL>G	7	74104524	74142468	Ref too long to show for this DEL	G	GTF2I	c.100-780_944-656del	NM_032999.4	NP_127492.1:p.?	NC_000007.13:g.74104525_74142468del	(Likely) pathogenic	1 lab	b3bc0823d2
3:123337538 MYLK G>A	3	123337538	123337538	G	A	MYLK	c.5448C>T	NM_053025.4	NP_444253.3:p.(Arg1816=)	NC_000003.11:g.123337538G>A	(Likely) benign	1 lab	b3c21e16ee
15:48775873 FBN1 G>A	15	48775873	48775873	G	A	FBN1	c.3838+142C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48775873G>A	(Likely) benign	1 lab	b3c8418215
2:166894404 SCN1A A>G	2	166894404	166894404	A	G	SCN1A	c.2828T>C	NM_001165963.4	NP_001159435.1:p.(Ile943Thr)	NC_000002.11:g.166894404A>G	VUS	1 lab	b3ca8687f7
11:116707882 APOA1 G>A	11	116707882	116707882	G	A	APOA1	c.-240-53C>T	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707882G>A	(Likely) benign	1 lab	b3cee559ed
15:48766276 FBN1 G>A	15	48766276	48766276	G	A	FBN1	c.4210+176C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48766276G>A	(Likely) benign	1 lab	b3d50fadc1
3:38913730 SCN11A C>A	3	38913730	38913730	C	A	SCN11A	c.3449G>T	NM_001349253.2	NP_001336182.1:p.(Arg1150Leu)	NC_000003.11:g.38913730C>A	VUS	1 lab	b3d7a85305
17:15142893 PMP22 A>G	17	15142893	15142893	A	G	PMP22	c.214T>C	NM_000304.4	NP_000295.1:p.(Ser72Pro)	NC_000017.10:g.15142893A>G	(Likely) pathogenic	1 lab	b3dcf5eaa1
15:48779403 FBN1 G>T	15	48779403	48779403	G	T	FBN1	c.3464-6C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779403G>T	(Likely) pathogenic	1 lab	b3e12833c1
1:25890201 LDLRAP1 G>A	1	25890201	25890201	G	A	LDLRAP1	c.666G>A	NM_015627.3	NP_056442.2:p.(Pro222=)	NC_000001.10:g.25890201G>A	(Likely) benign	1 lab	b3e3143085
6:70926749 COL9A1 G>A	6	70926749	70926749	G	A	COL9A1	c.2617C>T	NM_001851.6	NP_001842.3:p.(Arg873Ter)	NC_000006.11:g.70926749G>A	VUS	1 lab	b3e652921d
18:29101220 DSG2 T>G	18	29101220	29101220	T	G	DSG2	c.523+14T>G	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29101220T>G	(Likely) benign	1 lab	b3e6a19c80
12:51069171 DIP2B C>T	12	51069171	51069171	C	T	DIP2B	c.856C>T	NM_173602.3	NP_775873.2:p.(Arg286Ter)	NC_000012.11:g.51069171C>T	VUS	1 lab	b3e750a17e
2:179615592 TTN A>G	2	179615592	179615592	A	G	TTN	c.11535T>C	NM_133379.5	NP_596870.2:p.(Asn3845=)	NC_000002.11:g.179615592A>G	(Likely) benign	1 lab	b3e7617308
15:48757921 FBN1 A>C	15	48757921	48757921	A	C	FBN1	c.4817-31T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48757921A>C	(Likely) benign	1 lab	b3ed6e3b7d
3:197880130 FAM157A G>GGCA	3	197880130	197880172	G	GGCA	FAM157A	n.94_96dup	NR_146164.1		NC_000003.11:g.197880170_197880172dup	(Likely) benign	1 lab	b3ef1e63be
9:107607811 ABCA1 G>C	9	107607811	107607811	G	C	ABCA1	c.760C>G	NM_005502.4	NP_005493.2:p.(Leu254Val)	NC_000009.11:g.107607811G>C	(Likely) benign	1 lab	b3ef659b96
8:10470335 RP1L1 T>G	8	10470335	10470335	T	G	RP1L1	c.1273A>C	NM_178857.6	NP_849188.4:p.(Arg425=)	NC_000008.10:g.10470335T>G	(Likely) benign	1 lab	b3efc009ae
14:88459574 GALC C>A	14	88459574	88459574	C	A	GALC	c.117+153G>T	NM_001201402.2	NP_001188331.1:p.?	NC_000014.8:g.88459574C>A	(Likely) benign	1 lab	b3f015f3c5
19:42738531 GSK3A C>T	19	42738531	42738531	C	T	GSK3A	c.878G>A	NM_019884.3	NP_063937.2:p.(Gly293Glu)	NC_000019.9:g.42738531C>T	VUS	1 lab	b3f0852ca2
15:49481245 GALK2 Ref too long to show for this DEL>T	15	49481245	49534509	Ref too long to show for this DEL	T	GALK2	c.54-12113_504+2945del	NM_002044.4	NP_002035.1:p.?	NC_000015.9:g.49481246_49534509del	VUS	1 lab	b3f0a0e701
6:108279171 SEC63 A>AG	6	108279171	108279173	A	AG	SEC63	c.42dup	NM_007214.5	NP_009145.1:p.(Phe15LeufsTer78)	NC_000006.11:g.108279173dup	(Likely) pathogenic	1 lab	b3f2363ca8
17:7917997 GUCY2D C>T	17	7917997	7917997	C	T	GUCY2D	c.2491C>T	NM_000180.4	NP_000171.1:p.(Leu831=)	NC_000017.10:g.7917997C>T	(Likely) benign	1 lab	b3f3b8a0ea
10:134503321 MISSING T>Alt too long to show for this DUP	10	134503321	134675248	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.134503322_134675248dup	(Likely) pathogenic	1 lab	b3f56d7487
20:42744294 JPH2 G>A	20	42744294	42744294	G	A	JPH2	c.2010+11C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42744294G>A	(Likely) benign	1 lab	b3f6b0e3e9
15:71535410 THSD4 G>A	15	71535410	71535410	G	A	THSD4	c.887G>A	NM_024817.2	NP_079093.2:p.(Arg296Gln)	NC_000015.9:g.71535410G>A	(Likely) benign	1 lab	b3f78823cb
7:91682059 AKAP9 C>G	7	91682059	91682059	C	G	AKAP9	c.5388C>G	NM_005751.5	NP_005742.4:p.(Pro1796=)	NC_000007.13:g.91682059C>G	(Likely) benign	1 lab	b3f88d593a
13:110857906 COL4A1 C>T	13	110857906	110857906	C	T	COL4A1	c.859-21G>A	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110857906C>T	(Likely) benign	1 lab	b3fec2ce99
7:154143385 DPP6 C>T	7	154143385	154143385	C	T	DPP6	c.330C>T	NM_130797.4	NP_570629.2:p.(Ile110=)	NC_000007.13:g.154143385C>T	(Likely) benign	1 lab	b3fff0679b
2:179400172 TTN A>G	2	179400172	179400172	A	G	TTN	c.93466T>C	NM_133378.4	NP_596869.4:p.(Tyr31156His)	NC_000002.11:g.179400172A>G	VUS	1 lab	b4011a5348
9:94794686 SPTLC1 C>T	9	94794686	94794686	C	T	SPTLC1	c.1451G>A	NM_001281303.2	NP_001268232.1:p.(Arg484His)	NC_000009.11:g.94794686C>T	(Likely) benign	1 lab	b403cef966
17:60107331 MED13 T>TA	17	60107331	60107332	T	TA	MED13	c.1052dup	NM_005121.3	NP_005112.2:p.(Ser352IlefsTer2)	NC_000017.10:g.60107332dup	(Likely) pathogenic	1 lab	b405589223
11:10581437 LYVE1 G>T	11	10581437	10581437	G	T	LYVE1	c.708C>A	NM_006691.4	NP_006682.2:p.(Val236=)	NC_000011.9:g.10581437G>T	(Likely) benign	1 lab	b40a428419
4:100503272 MTTP A>G	4	100503272	100503272	A	G	MTTP	c.249+23A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100503272A>G	(Likely) benign	1 lab	b40c6de34c
11:76796027 CAPN5 T>C	11	76796027	76796027	T	C	CAPN5	c.95T>C	NM_004055.5	NP_004046.2:p.(Phe32Ser)	NC_000011.9:g.76796027T>C	(Likely) benign	1 lab	b40e16b731
15:100882020 ADAMTS17 C>T	15	100882020	100882020	C	T	ADAMTS17	c.79+6G>A	NM_139057.4	NP_620688.2:p.?	NC_000015.9:g.100882020C>T	(Likely) benign	1 lab	b40e605c9d
6:56382103 DST T>C	6	56382103	56382103	T	C	DST	c.11893A>G	NM_001144769.5	NP_001138241.1:p.(Thr3965Ala)	NC_000006.11:g.56382103T>C	VUS	1 lab	b414b5b94b
8:144296555 GPIHBP1 G>C	8	144296555	144296555	G	C	GPIHBP1	c.182-333G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296555G>C	(Likely) benign	1 lab	b41635f8eb
15:58830670 LIPC G>T	15	58830670	58830670	G	T	LIPC	c.227G>T	NM_000236.3	NP_000227.2:p.(Gly76Val)	NC_000015.9:g.58830670G>T	VUS	1 lab	b41a440794
9:107550868 ABCA1 T>C	9	107550868	107550868	T	C	ABCA1	c.5928-20A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550868T>C	(Likely) benign	1 lab	b41b3b1532
15:31342759 TRPM1 C>T	15	31342759	31342759	C	T	TRPM1	c.1341G>A	NM_001252020.2	NP_001238949.1:p.(Thr447=)	NC_000015.9:g.31342759C>T	(Likely) benign	1 lab	b42049829a
X:108906543 ACSL4 T>C	X	108906543	108906543	T	C	ACSL4	c.1602A>G	NM_022977.3	NP_075266.1:p.(Glu534=)	NC_000023.10:g.108906543T>C	(Likely) benign	1 lab	b4242f6482
9:128281421 MAPKAP1 Ref too long to show for this DEL>C	9	128281421	128299605	Ref too long to show for this DEL	C	MAPKAP1	c.958+5733_959-12726del	NM_001006617.3	NP_001006618.1:p.?	NC_000009.11:g.128281422_128299605del	VUS	1 lab	b425d10ff1
2:56094201 EFEMP1 GA>G	2	56094201	56094205	GA	G	EFEMP1	c.*6del	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56094205del	(Likely) benign	1 lab	b426624c5a
12:33022964 PKP2 AAAAC>A	12	33022964	33022979	AAAAC	A	PKP2	c.1035-972_1035-969del	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.33022976_33022979del	(Likely) benign	1 lab	b42b7594d9
9:14120540 NFIB AGTAGCTCGAT>A	9	14120540	14120551	AGTAGCTCGAT	A	NFIB	c.1134_1143del	NM_001369461.1	NP_001356390.1:p.(Ser379PhefsTer12)	NC_000009.11:g.14120542_14120551del	(Likely) pathogenic	1 lab	b42ddd8a9a
4:100510768 MTTP T>C	4	100510768	100510768	T	C	MTTP	c.394-32T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510768T>C	(Likely) benign	1 lab	b42e981e48
8:55540737 RP1 A>G	8	55540737	55540737	A	G	RP1	c.4295A>G	NM_006269.2	NP_006260.1:p.(Asn1432Ser)	NC_000008.10:g.55540737A>G	VUS	1 lab	b42f742805
3:38739740 SCN10A A>G	3	38739740	38739740	A	G	SCN10A	c.4971T>C	NM_006514.4	NP_006505.4:p.(Ile1657=)	NC_000003.11:g.38739740A>G	(Likely) benign	1 lab	b4316a7ab5
3:179131386 GNB4 G>A	3	179131386	179131386	G	A	GNB4	c.513C>T	NM_021629.4	NP_067642.1:p.(Ile171=)	NC_000003.11:g.179131386G>A	(Likely) benign	1 lab	b43830927a
16:15826509 MYH11 C>T	16	15826509	15826509	C	T	MYH11	c.3584G>A	NM_001040113.2	NP_001035202.1:p.(Arg1195Gln)	NC_000016.9:g.15826509C>T	VUS	1 lab	b43a0c8123
7:27147739 HOXA3 C>T	7	27147739	27147739	C	T	HOXA3	c.1127G>A	NM_153631.3	NP_705895.1:p.(Ser376Asn)	NC_000007.13:g.27147739C>T	VUS	1 lab	b43afbdb6b
7:154684153 DPP6 T>C	7	154684153	154684153	T	C	DPP6	c.2561T>C	NM_130797.4	NP_570629.2:p.(Leu854Pro)	NC_000007.13:g.154684153T>C	(Likely) benign	1 lab	b43ca2e8b0
3:78663958 ROBO1 GA>G	3	78663958	78663972	GA	G	ROBO1	c.4148-9del	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78663972del	(Likely) benign	1 lab	b43d609745
6:137166781 PEX7 GAGGTGAACAGCTTGTGGTGTCTGGCTC>G	6	137166781	137166809	GAGGTGAACAGCTTGTGGTGTCTGGCTC	G	PEX7	c.370_396del	NM_000288.4	NP_000279.1:p.(Gly124_Ser132del)	NC_000006.11:g.137166783_137166809del	(Likely) pathogenic	1 lab	b4404d5e65
15:45386362 DUOX2 AGTG>A	15	45386362	45386368	AGTG	A	DUOX2	c.4630_4632del	NM_001363711.2	NP_001350640.1:p.(His1544del)	NC_000015.9:g.45386366_45386368del	VUS	1 lab	b442a6b155
8:75274117 GDAP1 A>G	8	75274117	75274117	A	G	GDAP1	c.485-2A>G	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75274117A>G	(Likely) pathogenic	1 lab	b4447afc68
9:5077514 JAK2 A>T	9	5077514	5077514	A	T	JAK2	c.1926A>T	NM_001322194.2	NP_001309123.1:p.(Lys642Asn)	NC_000009.11:g.5077514A>T	VUS	1 lab	b44592a0dd
11:118047065 SCN2B T>TGA	11	118047065	118047067	T	TGA	SCN2B	c.70+11_70+12insTC	NM_004588.5	NP_004579.1:p.?	NC_000011.9:g.118047066_118047067insAG	(Likely) benign	1 lab	b44a387eb9
1:197390944 CRB1 A>G	1	197390944	197390944	A	G	CRB1	c.1779A>G	NM_001257965.2	NP_001244894.1:p.(Ser593=)	NC_000001.10:g.197390944A>G	(Likely) benign	1 lab	b44a4caa70
12:977212 WNK1 C>T	12	977212	977212	C	T	WNK1	c.2320C>T	NM_001184985.2	NP_001171914.1:p.(Gln774Ter)	NC_000012.11:g.977212C>T	(Likely) pathogenic	1 lab	b44af14b9c
1:215916695 USH2A G>A	1	215916695	215916695	G	A	USH2A	c.11390-18C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215916695G>A	(Likely) benign	1 lab	b44c8bf997
6:16144015 MYLIP G>A	6	16144015	16144015	G	A	MYLIP	c.748G>A	NM_013262.4	NP_037394.2:p.(Val250Met)	NC_000006.11:g.16144015G>A	VUS	1 lab	b4552897b9
16:16284062 ABCC6 AGAG>A	16	16284062	16284069	AGAG	A	ABCC6	c.1591_1593del	NM_001171.6	NP_001162.5:p.(Leu531del)	NC_000016.9:g.16284067_16284069del	VUS	1 lab	b455a8b91e
17:6380418 PITPNM3 G>C	17	6380418	6380418	G	C	PITPNM3	c.1016C>G	NM_031220.4	NP_112497.2:p.(Pro339Arg)	NC_000017.10:g.6380418G>C	(Likely) benign	1 lab	b4565e45f5
14:102466655 DYNC1H1 C>T	14	102466655	102466655	C	T	DYNC1H1	c.3993C>T	NM_001376.5	NP_001367.2:p.(Gly1331=)	NC_000014.8:g.102466655C>T	(Likely) benign	1 lab	b45870f723
7:128481288 FLNC C>T	7	128481288	128481288	C	T	FLNC	c.1878C>T	NM_001458.5	NP_001449.3:p.(Cys626=)	NC_000007.13:g.128481288C>T	(Likely) benign	1 lab	b458bf3608
10:68265512 CTNNA3 Ref too long to show for this DEL>T	10	68265512	68280424	Ref too long to show for this DEL	T	CTNNA3	c.1482_1531+14862del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68265513_68280424del	(Likely) pathogenic	1 lab	b45a7a9e35
14:75516060 MLH3 A>G	14	75516060	75516060	A	G	MLH3	c.299T>C	NM_001040108.2	NP_001035197.1:p.(Ile100Thr)	NC_000014.8:g.75516060A>G	VUS	1 lab	b45dd03428
19:7512016 ARHGEF18 C>G	19	7512016	7512016	C	G	ARHGEF18	c.973C>G	NM_001130955.2	NP_001124427.2:p.(Leu325Val)	NC_000019.9:g.7512016C>G	VUS	1 lab	b4604bb065
7:151273491 PRKAG2 C>A	7	151273491	151273491	C	A	PRKAG2	c.912G>T	NM_016203.4	NP_057287.2:p.(Ala304=)	NC_000007.13:g.151273491C>A	(Likely) benign	1 lab	b460c505ea
7:81599318 CACNA2D1 C>T	7	81599318	81599318	C	T	CACNA2D1	c.2205-18G>A	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81599318C>T	(Likely) benign	1 lab	b462172fe0
17:36490622 GPR179 A>G	17	36490622	36490622	A	G	GPR179	c.1749T>C	NM_001004334.4	NP_001004334.3:p.(Asn583=)	NC_000017.10:g.36490622A>G	(Likely) benign	1 lab	b46278c271
12:52056742 SCN8A C>T	12	52056742	52056742	C	T	SCN8A	c.141C>T	NM_014191.4	NP_055006.1:p.(Asp47=)	NC_000012.11:g.52056742C>T	(Likely) benign	1 lab	b46370b5da
6:32487164 HLA-DRB5 G>A	6	32487164	32487164	G	A	HLA-DRB5	c.635C>T	NM_002125.4	NP_002116.2:p.(Pro212Leu)	NC_000006.11:g.32487164G>A	(Likely) benign	1 lab	b4654208c8
10:48389406 RBP3 A>AGG	10	48389406	48389410	A	AGG	RBP3	c.1470_1471dup	NM_002900.3	NP_002891.1:p.(Leu491ProfsTer76)	NC_000010.10:g.48389409_48389410dup	(Likely) pathogenic	1 lab	b466d8d5ce
16:15917276 MYH11 C>CA	16	15917276	15917277	C	CA	MYH11	c.346-9dup	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15917277dup	(Likely) benign	1 lab	b46a8a9022
1:3329057 PRDM16 G>A	1	3329057	3329057	G	A	PRDM16	c.2296G>A	NM_022114.4	NP_071397.3:p.(Gly766Ser)	NC_000001.10:g.3329057G>A	(Likely) benign	1 lab	b46b606aff
16:30736134 SRCAP AC>A	16	30736134	30736137	AC	A	SRCAP	c.5392del	NM_006662.3	NP_006653.2:p.(Leu1798TrpfsTer54)	NC_000016.9:g.30736137del	(Likely) pathogenic	1 lab	b471c56340
16:88495162 ZNF469 C>T	16	88495162	88495162	C	T	ZNF469	c.1284C>T	NM_001367624.2	NP_001354553.1:p.(Ala428=)	NC_000016.9:g.88495162C>T	(Likely) benign	1 lab	b472e1ee40
1:55527222 PCSK9 A>C	1	55527222	55527222	A	C	PCSK9	c.1856A>C	NM_174936.4	NP_777596.2:p.(Gln619Pro)	NC_000001.10:g.55527222A>C	(Likely) benign	1 lab	b475ee16ee
10:121429653 BAG3 G>A	10	121429653	121429653	G	A	BAG3	c.471G>A	NM_004281.4	NP_004272.2:p.(Ala157=)	NC_000010.10:g.121429653G>A	(Likely) benign	1 lab	b47686d70a
11:66283014 BBS1 C>T	11	66283014	66283014	C	T	BBS1	c.436C>T	NM_024649.5	NP_078925.3:p.(Arg146Ter)	NC_000011.9:g.66283014C>T	(Likely) pathogenic	1 lab	b4b6f60ea6
9:113132221 SVEP1 G>A	9	113132221	113132221	G	A	SVEP1	c.10676C>T	NM_153366.4	NP_699197.3:p.(Thr3559Met)	NC_000009.11:g.113132221G>A	(Likely) benign	1 lab	b4771a4cd5
10:88452276 LDB3 T>G	10	88452276	88452276	T	G	LDB3	c.1064-16T>G	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88452276T>G	(Likely) benign	1 lab	b477f7def0
5:95748123 PCSK1 C>T	5	95748123	95748123	C	T	PCSK1	c.781G>A	NM_000439.5	NP_000430.3:p.(Val261Met)	NC_000005.9:g.95748123C>T	(Likely) benign	1 lab	b47ae9352a
12:58220831 CTDSP2 C>G	12	58220831	58220831	C	G	CTDSP2	c.302G>C	NM_005730.4	NP_005721.3:p.(Arg101Thr)	NC_000012.11:g.58220831C>G	(Likely) benign	1 lab	b47b8508bd
17:63545700 AXIN2 G>A	17	63545700	63545700	G	A	AXIN2	c.894C>T	NM_004655.4	NP_004646.3:p.(Asn298=)	NC_000017.10:g.63545700G>A	(Likely) benign	1 lab	b47f9ed8e3
1:236923333 ACTN2 G>T	1	236923333	236923333	G	T	ACTN2	c.2367+244G>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236923333G>T	(Likely) benign	1 lab	b48143ef7e
15:48720744 FBN1 C>T	15	48720744	48720744	C	T	FBN1	c.6872-76G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720744C>T	(Likely) benign	1 lab	b48398add0
2:220476546 STK11IP C>T	2	220476546	220476546	C	T	STK11IP	c.2325C>T	NM_052902.4	NP_443134.3:p.(Ser775=)	NC_000002.11:g.220476546C>T	(Likely) benign	1 lab	b483ac11d3
4:100510888 MTTP G>A	4	100510888	100510888	G	A	MTTP	c.482G>A	NM_000253.4	NP_000244.2:p.(Ser161Asn)	NC_000004.11:g.100510888G>A	(Likely) benign	1 lab	b485be0825
17:4008947 MISSING C>Alt too long to show for this DUP	17	4008947	4068386	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.4008948_4068386dup	VUS	1 lab	b487a3c0e2
2:198267489 SF3B1 T>C	2	198267489	198267489	T	C	SF3B1	c.1868A>G	NM_012433.4	NP_036565.2:p.(Tyr623Cys)	NC_000002.11:g.198267489T>C	VUS	1 lab	b489076188
10:73375322 CDH23 G>A	10	73375322	73375322	G	A	CDH23	c.894G>A	NM_022124.6	NP_071407.4:p.(Leu298=)	NC_000010.10:g.73375322G>A	(Likely) benign	1 lab	b48bf283e0
2:21260019 APOB T>C	2	21260019	21260019	T	C	APOB	c.646A>G	NM_000384.3	NP_000375.3:p.(Lys216Glu)	NC_000002.11:g.21260019T>C	(Likely) benign	1 lab	b48daca2b1
1:237551376 RYR2 T>A	1	237551376	237551376	T	A	RYR2	c.677-11T>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237551376T>A	(Likely) benign	1 lab	b4910a2cc0
4:114294421 ANK2 A>G	4	114294421	114294421	A	G	ANK2	c.11695-20A>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114294421A>G	(Likely) benign	1 lab	b495c9f3b5
5:130498289 HINT1 A>G	5	130498289	130498289	A	G	HINT1	c.192T>C	NM_005340.7	NP_005331.1:p.(Ser64=)	NC_000005.9:g.130498289A>G	(Likely) benign	1 lab	b4963cd793
2:179556811 TTN T>C	2	179556811	179556811	T	C	TTN	c.31694A>G	NM_001267550.2	NP_001254479.2:p.(Lys10565Arg)	NC_000002.11:g.179556811T>C	VUS	1 lab	b49709ee8e
2:179414923 TTN C>G	2	179414923	179414923	C	G	TTN	c.91642G>C	NM_001267550.2	NP_001254479.2:p.(Ala30548Pro)	NC_000002.11:g.179414923C>G	VUS	1 lab	b49905e908
5:138266600 CTNNA1 G>A	5	138266600	138266600	G	A	CTNNA1	c.2274G>A	NM_001903.5	NP_001894.2:p.(Lys758=)	NC_000005.9:g.138266600G>A	(Likely) benign	1 lab	b49968596a
12:32791796 FGD4 G>A	12	32791796	32791796	G	A	FGD4	c.2043+67G>A	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32791796G>A	(Likely) benign	1 lab	b4a133f1fb
3:38591990 SCN5A C>T	3	38591990	38591990	C	T	SCN5A	c.5873G>A	NM_198056.3	NP_932173.1:p.(Arg1958Gln)	NC_000003.11:g.38591990C>T	VUS	1 lab	b4a9b87a87
14:23872923 MYH6 C>T	14	23872923	23872923	C	T	MYH6	c.799+1G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872923C>T	VUS	1 lab	b4aa2f23f4
2:15506734 NBAS G>A	2	15506734	15506734	G	A	NBAS	c.3787C>T	NM_015909.4	NP_056993.2:p.(Leu1263=)	NC_000002.11:g.15506734G>A	(Likely) benign	1 lab	b4aadcf797
2:73677655 ALMS1 A>G	2	73677655	73677655	A	G	ALMS1	c.4004A>G	NM_015120.4	NP_055935.4:p.(Tyr1335Cys)	NC_000002.11:g.73677655A>G	VUS	1 lab	b4b32479c5
1:152190064 HRNR A>C	1	152190064	152190064	A	C	HRNR	c.4041T>G	NM_001009931.3	NP_001009931.1:p.(Ser1347=)	NC_000001.10:g.152190064A>C	(Likely) benign	1 lab	b4b671a3e8
15:45393014 DUOX2 G>C	15	45393014	45393014	G	C	DUOX2	c.2944C>G	NM_014080.5	NP_054799.4:p.(Pro982Ala)	NC_000015.9:g.45393014G>C	(Likely) benign	1 lab	b4badda142
10:81923123 ANXA11 G>A	10	81923123	81923123	G	A	ANXA11	c.969C>T	NM_001278409.2	NP_001265338.1:p.(Leu323=)	NC_000010.10:g.81923123G>A	(Likely) benign	1 lab	b4bbb5b7ce
18:47095895 LIPG A>G	18	47095895	47095895	A	G	LIPG	c.548A>G	NM_006033.4	NP_006024.1:p.(Lys183Arg)	NC_000018.9:g.47095895A>G	VUS	1 lab	b4bbf29053
1:74957868 TNNI3K C>T	1	74957868	74957868	C	T	TNNI3K	c.2269C>T	NM_015978.3	NP_057062.1:p.(Arg757Trp)	NC_000001.10:g.74957868C>T	VUS	1 lab	b4bcbd4974
2:44078980 ABCG8 T>C	2	44078980	44078980	T	C	ABCG8	c.561+19T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44078980T>C	(Likely) benign	1 lab	b4bd269c6a
20:62196677 HELZ2 G>A	20	62196677	62196677	G	A	HELZ2	c.3498C>T	NM_001037335.2	NP_001032412.2:p.(Ala1166=)	NC_000020.10:g.62196677G>A	(Likely) benign	1 lab	b4c0d501d3
6:74187353 MTO1 Ref too long to show for this DEL>C	6	74187353	74205952	Ref too long to show for this DEL	C	MTO1	c.826-2099_1757-1507del	NM_012123.4	NP_036255.2:p.?	NC_000006.11:g.74187356_74205952del	VUS	1 lab	b4c125b435
5:133943937 SAR1B G>T	5	133943937	133943937	G	T	SAR1B	c.480+125C>A	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133943937G>T	(Likely) benign	1 lab	b4c26eabbe
11:77090376 PAK1 G>T	11	77090376	77090376	G	T	PAK1	c.349C>A	NM_002576.5	NP_002567.3:p.(Gln117Lys)	NC_000011.9:g.77090376G>T	(Likely) pathogenic	1 lab	b4c31cff8f
16:89350973 ANKRD11 G>T	16	89350973	89350973	G	T	ANKRD11	c.1977C>A	NM_001256182.2	NP_001243111.1:p.(Tyr659Ter)	NC_000016.9:g.89350973G>T	(Likely) pathogenic	1 lab	b4cb3bcb84
2:179399462 TTN A>G	2	179399462	179399462	A	G	TTN	c.101880T>C	NM_001267550.2	NP_001254479.2:p.(Phe33960=)	NC_000002.11:g.179399462A>G	(Likely) benign	1 lab	b4ced7232b
2:10740975 NOL10 T>A	2	10740975	10740975	T	A	NOL10	c.1422+4A>T	NM_024894.4	NP_079170.2:p.?	NC_000002.11:g.10740975T>A	(Likely) benign	1 lab	b4d0e451d4
1:147380104 GJA8 G>A	1	147380104	147380104	G	A	GJA8	c.22G>A	NM_005267.5	NP_005258.2:p.(Gly8Arg)	NC_000001.10:g.147380104G>A	VUS	1 lab	b4d2143fd3
9:101867537 TGFBR1 TGGCGGCGGCGGC>T	9	101867537	101867565	TGGCGGCGGCGGC	T	TGFBR1	c.67_78del	NM_004612.4	NP_004603.1:p.(Ala23_Ala26del)	NC_000009.11:g.101867554_101867565del	(Likely) benign	1 lab	b4d31d5d97
15:58838051 LIPC G>A	15	58838051	58838051	G	A	LIPC	c.685G>A	NM_000236.3	NP_000227.2:p.(Gly229Ser)	NC_000015.9:g.58838051G>A	VUS	1 lab	b4d31de2c0
15:28230271 OCA2 C>T	15	28230271	28230271	C	T	OCA2	c.1303G>A	NM_000275.3	NP_000266.2:p.(Val435Ile)	NC_000015.9:g.28230271C>T	(Likely) benign	1 lab	b4d3c99594
2:179598042 TTN G>A	2	179598042	179598042	G	A	TTN	c.15978C>T	NM_001267550.2	NP_001254479.2:p.(His5326=)	NC_000002.11:g.179598042G>A	(Likely) benign	1 lab	b4d48e482b
20:54824345 MC3R C>T	20	54824345	54824345	C	T	MC3R	c.446C>T	NM_019888.3	NP_063941.3:p.(Ala149Val)	NC_000020.10:g.54824345C>T	VUS	1 lab	b71704928a
9:100616694 FOXE1 TGCCGCAGCCGCC>T	9	100616694	100616711	TGCCGCAGCCGCC	T	FOXE1	c.504_515del	NM_004473.4	NP_004464.2:p.(Ala176_Ala179del)	NC_000009.11:g.100616700_100616711del	(Likely) benign	1 lab	b4db10b71e
12:133249311 POLE C>T	12	133249311	133249311	C	T	POLE	c.1588G>A	NM_006231.4	NP_006222.2:p.(Asp530Asn)	NC_000012.11:g.133249311C>T	(Likely) benign	1 lab	b4db9c9b8a
6:149983215 LATS1 Ref too long to show for this DEL>A	6	149983215	150001953	Ref too long to show for this DEL	A	LATS1	c.2011-360_3042del	NM_004690.4	NP_004681.1:p.?	NC_000006.11:g.149983216_150001953del	VUS	1 lab	b4dc660c14
2:44055046 ABCG5 G>T	2	44055046	44055046	G	T	ABCG5	c.634+76C>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055046G>T	(Likely) benign	1 lab	b4e179b3e0
21:47847699 PCNT TCCGTGAG>T	21	47847699	47847707	TCCGTGAG	T	PCNT	c.7132_7138del	NM_001315529.2	NP_001302458.1:p.(Gln2380ThrfsTer31)	NC_000021.8:g.47847701_47847707del	(Likely) pathogenic	1 lab	b4e33fe61a
9:35066727 VCP G>C	9	35066727	35066727	G	C	VCP	c.390C>G	NM_007126.5	NP_009057.1:p.(Leu130=)	NC_000009.11:g.35066727G>C	(Likely) benign	1 lab	b4e64221b8
2:179567206 TTN G>A	2	179567206	179567206	G	A	TTN	c.30408C>T	NM_001267550.2	NP_001254479.2:p.(Ile10136=)	NC_000002.11:g.179567206G>A	(Likely) benign	1 lab	b4eb5fa975
10:75613007 CAMK2G G>C	10	75613007	75613007	G	C	CAMK2G	c.-533-3C>G	NM_001367542.1	NP_001354471.1:p.?	NC_000010.10:g.75613007G>C	VUS	1 lab	b4eca14cec
10:88635867 BMPR1A T>C	10	88635867	88635867	T	C	BMPR1A	c.67+25T>C	NM_004329.3	NP_004320.2:p.?	NC_000010.10:g.88635867T>C	(Likely) benign	1 lab	b4f20152fb
3:193409882 OPA1 A>C	3	193409882	193409882	A	C	OPA1	c.3014A>C	NM_130837.3	NP_570850.2:p.(Asp1005Ala)	NC_000003.11:g.193409882A>C	VUS	1 lab	b4f39f0f9b
5:140723979 PCDHGA1 A>Alt too long to show for this DUP	5	140723979	140771944	A	Alt too long to show for this DUP	PCDHGA1	c.2421+11310_2421+59272dup	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140723982_140771944dup	VUS	1 lab	b4f7d2da14
1:201338487 TNNT2 C>T	1	201338487	201338487	C	T	TNNT2	c.68-1132G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201338487C>T	(Likely) benign	1 lab	b4faf09655
X:152960332 SLC6A8 C>G	X	152960332	152960332	C	G	SLC6A8	c.1755C>G	NM_005629.4	NP_005620.1:p.(Gly585=)	NC_000023.10:g.152960332C>G	(Likely) benign	1 lab	b4fb204c25
14:75515646 MLH3 T>G	14	75515646	75515646	T	G	MLH3	c.713A>C	NM_001040108.2	NP_001035197.1:p.(Tyr238Ser)	NC_000014.8:g.75515646T>G	(Likely) benign	1 lab	b4fbb67837
15:67473653 SMAD3 G>A	15	67473653	67473653	G	A	SMAD3	c.733G>A	NM_005902.4	NP_005893.1:p.(Gly245Arg)	NC_000015.9:g.67473653G>A	(Likely) pathogenic	1 lab	b4fe546854
6:75898241 COL12A1 A>C	6	75898241	75898241	A	C	COL12A1	c.834T>G	NM_004370.6	NP_004361.3:p.(Ala278=)	NC_000006.11:g.75898241A>C	(Likely) benign	1 lab	b501025562
11:118255662 UBE4A TAA>T	11	118255662	118255683	TAA	T	UBE4A	c.2433+22_2433+23del	NM_004788.4	NP_004779.2:p.?	NC_000011.9:g.118255682_118255683del	(Likely) benign	1 lab	b5014bc5ae
6:7585694 DSP G>C	6	7585694	7585694	G	C	DSP	c.8199G>C	NM_004415.4	NP_004406.2:p.(Thr2733=)	NC_000006.11:g.7585694G>C	(Likely) benign	1 lab	b507848703
1:66102531 LEPR A>G	1	66102531	66102531	A	G	LEPR	c.3331A>G	NM_002303.6	NP_002294.2:p.(Thr1111Ala)	NC_000001.10:g.66102531A>G	VUS	1 lab	b50a150029
2:189868311 COL3A1 A>G	2	189868311	189868311	A	G	COL3A1	c.2607+121A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189868311A>G	(Likely) benign	1 lab	b50b6d0546
15:85383354 ALPK3 C>A	15	85383354	85383354	C	A	ALPK3	c.844C>A	NM_020778.5	NP_065829.4:p.(Pro282Thr)	NC_000015.9:g.85383354C>A	VUS	1 lab	b50b909c42
6:112430767 LAMA4 C>T	6	112430767	112430767	C	T	LAMA4	c.5345G>A	NM_001105206.3	NP_001098676.2:p.(Arg1782His)	NC_000006.11:g.112430767C>T	VUS	1 lab	b50c1576bf
19:17729787 UNC13A T>G	19	17729787	17729787	T	G	UNC13A	c.4273-16A>C	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17729787T>G	(Likely) benign	1 lab	b50fe722c5
11:68115927 LRP5 T>G	11	68115927	68115927	T	G	LRP5	c.488+216T>G	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68115927T>G	(Likely) benign	1 lab	b512dd659a
3:38662726 SCN5A C>T	3	38662726	38662726	C	T	SCN5A	c.483-264G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38662726C>T	(Likely) benign	1 lab	b515e4f7e7
6:7572296 DSP C>T	6	7572296	7572296	C	T	DSP	c.2125C>T	NM_004415.4	NP_004406.2:p.(Leu709Phe)	NC_000006.11:g.7572296C>T	VUS	1 lab	b51851f994
2:167128917 SCN9A T>C	2	167128917	167128917	T	C	SCN9A	c.3310A>G	NM_002977.3	NP_002968.1:p.(Ser1104Gly)	NC_000002.11:g.167128917T>C	VUS	1 lab	b5192010e7
Y:5533542 MISSING Ref too long to show for this DEL>A	Y	5533542	6138273	Ref too long to show for this DEL	A	MISSING				NC_000024.9:g.5533547_6138273del	VUS	1 lab	b51a8d4fb8
2:21249700 APOB A>T	2	21249700	21249700	A	T	APOB	c.2204T>A	NM_000384.3	NP_000375.3:p.(Val735Glu)	NC_000002.11:g.21249700A>T	VUS	1 lab	b51aacf18f
16:29477858 MISSING Ref too long to show for this DEL>T	16	29477858	30199507	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29477859_30199507del	(Likely) pathogenic	1 lab	b51d0fc7ec
11:8122414 TUB G>A	11	8122414	8122414	G	A	TUB	c.1422G>A	NM_003320.5	NP_003311.2:p.(Thr474=)	NC_000011.9:g.8122414G>A	(Likely) benign	1 lab	b51edd75ef
1:12012809 PLOD1 G>A	1	12012809	12012809	G	A	PLOD1	c.579+17G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12012809G>A	(Likely) benign	1 lab	b5208ddb5a
3:85440591 CADM2 Ref too long to show for this DEL>C	3	85440591	85597817	Ref too long to show for this DEL	C	CADM2	c.62-335078_62-177855del	NM_001167675.2	NP_001161147.1:p.?	NC_000003.11:g.85440594_85597817del	VUS	1 lab	b52106e4c4
22:50897911 SBF1 C>T	22	50897911	50897911	C	T	SBF1	c.3676G>A	NM_002972.4	NP_002963.2:p.(Ala1226Thr)	NC_000022.10:g.50897911C>T	(Likely) benign	1 lab	b52272cda5
11:2591881 KCNQ1 C>T	11	2591881	2591881	C	T	KCNQ1	c.501C>T	NM_000218.3	NP_000209.2:p.(Phe167=)	NC_000011.9:g.2591881C>T	(Likely) benign	1 lab	b524fcbb3e
21:47663478 MCM3AP C>A	21	47663478	47663478	C	A	MCM3AP	c.5197G>T	NM_003906.5	NP_003897.2:p.(Gly1733Cys)	NC_000021.8:g.47663478C>A	VUS	1 lab	b5260368ab
11:116701547 APOC3 C>T	11	116701547	116701547	C	T	APOC3	c.114C>T	NM_000040.3	NP_000031.1:p.(His38=)	NC_000011.9:g.116701547C>T	(Likely) benign	1 lab	b526cd2c4f
6:118842806 CEP85L Ref too long to show for this DEL>A	6	118842806	118868051	Ref too long to show for this DEL	A	CEP85L	c.1020+18641_1139+2158del	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118842807_118868051del	VUS	1 lab	b526f99aff
18:77474856 CTDP1 G>A	18	77474856	77474856	G	A	CTDP1	c.1396G>A	NM_004715.5	NP_004706.3:p.(Gly466Ser)	NC_000018.9:g.77474856G>A	VUS	1 lab	b5285b6307
6:56418374 DST C>G	6	56418374	56418374	C	G	DST	c.8859G>C	NM_001144769.5	NP_001138241.1:p.(Trp2953Cys)	NC_000006.11:g.56418374C>G	VUS	1 lab	b52879a331
12:49224990 DDX23 C>T	12	49224990	49224990	C	T	DDX23	c.2174G>A	NM_004818.3	NP_004809.2:p.(Gly725Asp)	NC_000012.11:g.49224990C>T	(Likely) pathogenic	1 lab	b529f1740a
11:44148425 EXT2 T>C	11	44148425	44148425	T	C	EXT2	c.1098T>C	NM_000401.3	NP_000392.3:p.(Asp366=)	NC_000011.9:g.44148425T>C	(Likely) benign	1 lab	b52b244665
18:47091803 LIPG C>CA	18	47091803	47091804	C	CA	LIPG	c.215dup	NM_006033.4	NP_006024.1:p.(Pro73AlafsTer12)	NC_000018.9:g.47091804dup	(Likely) pathogenic	1 lab	b52c110d40
12:125302400 SCARB1 C>T	12	125302400	125302400	C	T	SCARB1	c.127-147G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125302400C>T	(Likely) benign	1 lab	b52cd9811b
13:32944648 BRCA2 A>G	13	32944648	32944648	A	G	BRCA2	c.8441A>G	NM_000059.4	NP_000050.3:p.(Asn2814Ser)	NC_000013.10:g.32944648A>G	VUS	1 lab	b531d3d968
10:75855506 VCL G>A	10	75855506	75855506	G	A	VCL	c.1636G>A	NM_003373.4	NP_003364.1:p.(Asp546Asn)	NC_000010.10:g.75855506G>A	VUS	1 lab	b531d4645e
2:179408622 TTN G>A	2	179408622	179408622	G	A	TTN	c.96249C>T	NM_001267550.2	NP_001254479.2:p.(Tyr32083=)	NC_000002.11:g.179408622G>A	(Likely) benign	1 lab	b5323d6bb9
2:21224423 APOB G>A	2	21224423	21224423	G	A	APOB	c.*179C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21224423G>A	(Likely) benign	1 lab	b533832875
22:21075573 PI4KA A>Alt too long to show for this DUP	22	21075573	21134186	A	Alt too long to show for this DUP	PI4KA	c.2328+13297_5116+12dup	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21075576_21134186dup	VUS	1 lab	b5353b0a99
8:22059413 BMP1 C>G	8	22059413	22059413	C	G	BMP1	c.2205C>G	NM_006129.5	NP_006120.1:p.(Leu735=)	NC_000008.10:g.22059413C>G	(Likely) benign	1 lab	b5353b191d
13:32954143 BRCA2 G>A	13	32954143	32954143	G	A	BRCA2	c.9118-1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32954143G>A	(Likely) pathogenic	1 lab	b535db197a
9:107599840 ABCA1 A>C	9	107599840	107599840	A	C	ABCA1	c.1063T>G	NM_005502.4	NP_005493.2:p.(Cys355Gly)	NC_000009.11:g.107599840A>C	VUS	1 lab	b539410871
9:135204004 SETX T>C	9	135204004	135204004	T	C	SETX	c.2981A>G	NM_001351527.2	NP_001338456.1:p.(Asp994Gly)	NC_000009.11:g.135204004T>C	VUS	1 lab	b539589f76
19:37338794 MISSING G>Alt too long to show for this DUP	19	37338794	37397431	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.37338796_37397431dup	VUS	1 lab	b53b21ac88
12:124417889 DNAH10 C>T	12	124417889	124417889	C	T	DNAH10	c.12954C>T	NM_207437.3	NP_997320.2:p.(Ser4318=)	NC_000012.11:g.124417889C>T	(Likely) benign	1 lab	b53b2da047
X:105277494 SERPINA7 C>T	X	105277494	105277494	C	T	SERPINA7	c.1245G>A	NM_000354.6	NP_000345.2:p.(Ala415=)	NC_000023.10:g.105277494C>T	(Likely) benign	1 lab	b53b5756d1
7:81603886 CACNA2D1 T>G	7	81603886	81603886	T	G	CACNA2D1	c.1956-18A>C	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81603886T>G	(Likely) benign	1 lab	b53b805f4c
2:234229325 SAG C>T	2	234229325	234229325	C	T	SAG	c.231C>T	NM_000541.5	NP_000532.2:p.(Asp77=)	NC_000002.11:g.234229325C>T	(Likely) benign	1 lab	b53fcaab46
1:55524308 PCSK9 C>T	1	55524308	55524308	C	T	PCSK9	c.1491C>T	NM_174936.4	NP_777596.2:p.(Gly497=)	NC_000001.10:g.55524308C>T	(Likely) benign	1 lab	b542874e8a
9:2718355 KCNV2 C>A	9	2718355	2718355	C	A	KCNV2	c.616C>A	NM_133497.4	NP_598004.1:p.(Arg206=)	NC_000009.11:g.2718355C>A	(Likely) benign	1 lab	b543c9bac5
6:75848181 COL12A1 A>G	6	75848181	75848181	A	G	COL12A1	c.5213T>C	NM_004370.6	NP_004361.3:p.(Ile1738Thr)	NC_000006.11:g.75848181A>G	(Likely) benign	1 lab	b544a17aa5
16:29622719 MISSING Ref too long to show for this DEL>C	16	29622719	30177999	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29622720_30177999del	(Likely) pathogenic	1 lab	b544b0fe5a
22:46931402 CELSR1 G>C	22	46931402	46931402	G	C	CELSR1	c.1666C>G	NM_001378328.1	NP_001365257.1:p.(Leu556Val)	NC_000022.10:g.46931402G>C	(Likely) benign	1 lab	b54526b86f
X:75650279 MAGEE1 G>A	X	75650279	75650279	G	A	MAGEE1	c.1956G>A	NM_020932.3	NP_065983.1:p.(Glu652=)	NC_000023.10:g.75650279G>A	(Likely) benign	1 lab	b548e90c31
2:179638268 TTN G>C	2	179638268	179638268	G	C	TTN	c.7515C>G	NM_001267550.2	NP_001254479.2:p.(Asn2505Lys)	NC_000002.11:g.179638268G>C	VUS	1 lab	b54a057e52
1:12012753 PLOD1 G>A	1	12012753	12012753	G	A	PLOD1	c.540G>A	NM_000302.4	NP_000293.2:p.(Gln180=)	NC_000001.10:g.12012753G>A	(Likely) benign	1 lab	b54a0c1b51
16:1004061 LMF1 A>G	16	1004061	1004061	A	G	LMF1	c.503+296T>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004061A>G	(Likely) benign	1 lab	b54a280ed5
13:110839679 COL4A1 G>C	13	110839679	110839679	G	C	COL4A1	c.1537-3C>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110839679G>C	(Likely) pathogenic	1 lab	b54be26672
8:133980214 TG A>G	8	133980214	133980214	A	G	TG	c.5862A>G	NM_003235.5	NP_003226.4:p.(Lys1954=)	NC_000008.10:g.133980214A>G	(Likely) benign	1 lab	b54cc64ffb
2:179588338 TTN G>A	2	179588338	179588338	G	A	TTN	c.21489C>T	NM_001267550.2	NP_001254479.2:p.(Thr7163=)	NC_000002.11:g.179588338G>A	(Likely) benign	1 lab	b54d68348a
16:1004730 LMF1 G>A	16	1004730	1004730	G	A	LMF1	c.-361-64C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004730G>A	(Likely) benign	1 lab	b54e2fc7ab
11:68705684 IGHMBP2 C>A	11	68705684	68705684	C	A	IGHMBP2	c.2646C>A	NM_002180.3	NP_002171.2:p.(Asp882Glu)	NC_000011.9:g.68705684C>A	VUS	1 lab	b551c1b4d8
16:1411748 GNPTG C>T	16	1411748	1411748	C	T	GNPTG	c.183C>T	NM_032520.5	NP_115909.1:p.(Pro61=)	NC_000016.9:g.1411748C>T	(Likely) benign	1 lab	b553070647
11:71941254 INPPL1 G>A	11	71941254	71941254	G	A	INPPL1	c.1029G>A	NM_001567.4	NP_001558.3:p.(Leu343=)	NC_000011.9:g.71941254G>A	(Likely) benign	1 lab	b553209665
19:55370554 KIR3DL2 C>CAT	19	55370554	55370555	C	CAT	KIR3DL2	c.970_971insAT	NM_006737.4	NP_006728.2:p.(Pro324HisfsTer20)	NC_000019.9:g.55370554_55370555insAT	(Likely) benign	1 lab	b5546a15b5
19:11216033 LDLR G>A	19	11216033	11216033	G	A	LDLR	c.451G>A	NM_000527.5	NP_000518.1:p.(Ala151Thr)	NC_000019.9:g.11216033G>A	(Likely) pathogenic	1 lab	b555583592
22:51065181 ARSA T>G	22	51065181	51065181	T	G	ARSA	c.692A>C	NM_000487.6	NP_000478.3:p.(His231Pro)	NC_000022.10:g.51065181T>G	(Likely) pathogenic	1 lab	b555c8c63a
1:43212409 P3H1 ACTCTTGTGCAGGTTCGGGGGGACCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGG>A	1	43212409	43212467	ACTCTTGTGCAGGTTCGGGGGGACCCTGCTGGGCATCCAGGGGCTGCTCCTGGGAGAGG	A	P3H1	c.2112_2169del	NM_022356.4	NP_071751.3:p.(Glu708AlafsTer21)	NC_000001.10:g.43212410_43212467del	(Likely) pathogenic	1 lab	b557819809
19:11239179 LDLR AC>A	19	11239179	11239182	AC	A	LDLR	c.2389+421del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239182del	(Likely) benign	1 lab	b558ca2bf5
8:145785753 MISSING A>Alt too long to show for this DUP	8	145785753	146032690	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145785756_146032690dup	VUS	1 lab	b55dc82bd9
6:33405892 SYNGAP1 G>C	6	33405892	33405892	G	C	SYNGAP1	c.1210G>C	NM_006772.3	NP_006763.2:p.(Ala404Pro)	NC_000006.11:g.33405892G>C	(Likely) pathogenic	1 lab	b565128a63
8:100654559 VPS13B G>A	8	100654559	100654559	G	A	VPS13B	c.5816G>A	NM_017890.5	NP_060360.3:p.(Arg1939Gln)	NC_000008.10:g.100654559G>A	VUS	1 lab	b56540681e
14:23863383 MYH6 C>A	14	23863383	23863383	C	A	MYH6	c.2579G>T	NM_002471.4	NP_002462.2:p.(Arg860Leu)	NC_000014.8:g.23863383C>A	VUS	1 lab	b567b7a1fb
9:111685129 ELP1 A>T	9	111685129	111685129	A	T	ELP1	c.545T>A	NM_003640.5	NP_003631.2:p.(Met182Lys)	NC_000009.11:g.111685129A>T	(Likely) benign	1 lab	b57356c659
2:179638324 TTN G>A	2	179638324	179638324	G	A	TTN	c.7459C>T	NM_001267550.2	NP_001254479.2:p.(Pro2487Ser)	NC_000002.11:g.179638324G>A	VUS	1 lab	b57aa57c30
15:55759241 DNAAF4 A>AT	15	55759241	55759250	A	AT	DNAAF4	c.523dup	NM_130810.4	NP_570722.2:p.(Ile175AsnfsTer15)	NC_000015.9:g.55759250dup	(Likely) pathogenic	1 lab	b57fea84f5
2:44101827 ABCG8 G>A	2	44101827	44101827	G	A	ABCG8	c.1488+205G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101827G>A	(Likely) benign	1 lab	b590b151ed
22:51135954 SHANK3 G>A	22	51135954	51135954	G	A	SHANK3	c.1567-31G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135954G>A	(Likely) benign	1 lab	b581779087
2:21236402 APOB A>G	2	21236402	21236402	A	G	APOB	c.3846T>C	NM_000384.3	NP_000375.3:p.(Asp1282=)	NC_000002.11:g.21236402A>G	(Likely) benign	1 lab	b582114585
2:179435489 TTN G>A	2	179435489	179435489	G	A	TTN	c.67666C>T	NM_133378.4	NP_596869.4:p.(His22556Tyr)	NC_000002.11:g.179435489G>A	VUS	1 lab	b5832f42c5
16:84075747 SLC38A8 G>A	16	84075747	84075747	G	A	SLC38A8	c.16C>T	NM_001080442.3	NP_001073911.1:p.(Pro6Ser)	NC_000016.9:g.84075747G>A	(Likely) benign	1 lab	b58507b0e9
13:32911595 BRCA2 G>A	13	32911595	32911595	G	A	BRCA2	c.3103G>A	NM_000059.4	NP_000050.3:p.(Glu1035Lys)	NC_000013.10:g.32911595G>A	VUS	1 lab	b586cc3093
20:23476465 CST8 C>T	20	23476465	23476465	C	T	CST8	c.346-3C>T	NM_005492.4	NP_005483.1:p.?	NC_000020.10:g.23476465C>T	(Likely) benign	1 lab	b587cbbfa8
X:31525476 DMD T>G	X	31525476	31525476	T	G	DMD	c.8312A>C	NM_004006.3	NP_003997.2:p.(Asp2771Ala)	NC_000023.10:g.31525476T>G	VUS	1 lab	b589bfcbcf
11:116662324 APOA5 G>A	11	116662324	116662324	G	A	APOA5	c.139C>T	NM_052968.5	NP_443200.2:p.(Gln47Ter)	NC_000011.9:g.116662324G>A	(Likely) pathogenic	1 lab	b58af3e574
16:1657306 IFT140 GA>G	16	1657306	1657315	GA	G	IFT140	c.-31-9del	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1657315del	(Likely) benign	1 lab	b58b384c84
17:59876669 BRIP1 T>C	17	59876669	59876669	T	C	BRIP1	c.1141-9A>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59876669T>C	VUS	1 lab	b58c650892
16:88808743 PIEZO1 A>G	16	88808743	88808743	A	G	PIEZO1	c.248T>C	NM_001142864.4	NP_001136336.2:p.(Ile83Thr)	NC_000016.9:g.88808743A>G	(Likely) benign	1 lab	b58c7d4aca
3:38674697 SCN5A G>A	3	38674697	38674697	G	A	SCN5A	c.102C>T	NM_198056.3	NP_932173.1:p.(Arg34=)	NC_000003.11:g.38674697G>A	(Likely) benign	1 lab	b590a2e971
4:6302410 WFS1 C>A	4	6302410	6302410	C	A	WFS1	c.888C>A	NM_006005.3	NP_005996.2:p.(Ile296=)	NC_000004.11:g.6302410C>A	(Likely) benign	1 lab	b59a04eeac
1:55523796 PCSK9 T>C	1	55523796	55523796	T	C	PCSK9	c.1268T>C	NM_174936.4	NP_777596.2:p.(Val423Ala)	NC_000001.10:g.55523796T>C	VUS	1 lab	b59a3db445
20:42203644 SGK2 G>A	20	42203644	42203644	G	A	SGK2	c.873G>A	NM_016276.4	NP_057360.2:p.(Leu291=)	NC_000020.10:g.42203644G>A	(Likely) benign	1 lab	b59b02acb7
11:117282559 CEP164 G>A	11	117282559	117282559	G	A	CEP164	c.4212G>A	NM_014956.5	NP_055771.4:p.(Ala1404=)	NC_000011.9:g.117282559G>A	(Likely) benign	1 lab	b59b9691e3
11:47357821 MYBPC3 C>T	11	47357821	47357821	C	T	MYBPC3	c.2603-259G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357821C>T	(Likely) benign	1 lab	b59f9f0618
9:117267063 WHRN C>G	9	117267063	117267063	C	G	WHRN	c.19G>C	NM_015404.4	NP_056219.3:p.(Gly7Arg)	NC_000009.11:g.117267063C>G	(Likely) benign	1 lab	b5a01f71f0
X:14038513 GEMIN8 A>C	X	14038513	14038513	A	C	GEMIN8	c.156T>G	NM_017856.3	NP_060326.1:p.(Leu52=)	NC_000023.10:g.14038513A>C	(Likely) benign	1 lab	b5a2a9799f
1:216420567 USH2A C>T	1	216420567	216420567	C	T	USH2A	c.2169G>A	NM_206933.4	NP_996816.3:p.(Gly723=)	NC_000001.10:g.216420567C>T	(Likely) benign	1 lab	b5a4da9644
11:47358040 MYBPC3 CAA>C	11	47358040	47358064	CAA	C	MYBPC3	c.2603-480_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358063_47358064del	(Likely) benign	1 lab	b5a73a233b
6:7584047 DSP G>A	6	7584047	7584047	G	A	DSP	c.6552G>A	NM_004415.4	NP_004406.2:p.(Val2184=)	NC_000006.11:g.7584047G>A	(Likely) benign	1 lab	b5a7c1b948
6:15593319 DTNBP1 GAA>G	6	15593319	15593333	GAA	G	DTNBP1	c.489-9_489-8del	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593332_15593333del	(Likely) benign	1 lab	b5acadfbe4
11:48131637 PTPRJ C>T	11	48131637	48131637	C	T	PTPRJ	c.115+9C>T	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48131637C>T	(Likely) benign	1 lab	b5ad7e698c
6:75840224 COL12A1 T>C	6	75840224	75840224	T	C	COL12A1	c.6068-275A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75840224T>C	(Likely) benign	1 lab	b5addbc9e9
X:70443703 GJB1 C>A	X	70443703	70443703	C	A	GJB1	c.146C>A	NM_000166.6	NP_000157.1:p.(Ser49Tyr)	NC_000023.10:g.70443703C>A	(Likely) pathogenic	1 lab	b5afa41904
16:919940 LMF1 G>A	16	919940	919940	G	A	LMF1	c.960C>T	NM_001352018.2	NP_001338947.1:p.(Cys320=)	NC_000016.9:g.919940G>A	(Likely) benign	1 lab	b5b04a4b34
6:127796839 MTCL3 C>T	6	127796839	127796839	C	T	MTCL3	c.2332G>A	NM_001012279.3	NP_001012279.1:p.(Gly778Ser)	NC_000006.11:g.127796839C>T	VUS	1 lab	b5b24947c3
2:220355476 SPEG C>T	2	220355476	220355476	C	T	SPEG	c.9183C>T	NM_005876.5	NP_005867.3:p.(Asp3061=)	NC_000002.11:g.220355476C>T	(Likely) benign	1 lab	b5b3849379
X:119590570 LAMP2 GTGGC>G	X	119590570	119590574	GTGGC	G	LAMP2	c.115_118del	NM_002294.3	NP_002285.1:p.(Ala39LeufsTer9)	NC_000023.10:g.119590571_119590574del	(Likely) benign	1 lab	b5b3d6aa64
5:8326600 MISSING Ref too long to show for this DEL>C	5	8326600	8462902	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.8326603_8462902del	VUS	1 lab	b5b561045e
2:21236358 APOB T>C	2	21236358	21236358	T	C	APOB	c.3890A>G	NM_000384.3	NP_000375.3:p.(Glu1297Gly)	NC_000002.11:g.21236358T>C	(Likely) benign	1 lab	b5b5a684e2
15:44943897 SPG11 C>A	15	44943897	44943897	C	A	SPG11	c.1248G>T	NM_025137.4	NP_079413.3:p.(Met416Ile)	NC_000015.9:g.44943897C>A	(Likely) benign	1 lab	b5b7d4832b
12:133226016 POLE C>T	12	133226016	133226016	C	T	POLE	c.3881G>A	NM_006231.4	NP_006222.2:p.(Arg1294His)	NC_000012.11:g.133226016C>T	(Likely) benign	1 lab	b5b87fb018
6:135776956 AHI1 C>T	6	135776956	135776956	C	T	AHI1	c.1260G>A	NM_001350503.2	NP_001337432.1:p.(Trp420Ter)	NC_000006.11:g.135776956C>T	(Likely) pathogenic	1 lab	b5bb281f2e
19:11227646 LDLR C>A	19	11227646	11227646	C	A	LDLR	c.1817C>A	NM_000527.5	NP_000518.1:p.(Ala606Asp)	NC_000019.9:g.11227646C>A	VUS	1 lab	b5bfd67afe
17:41242922 BRCA1 CCACACACACGCATGTGCA>C	17	41242922	41242949	CCACACACACGCATGTGCA	C	BRCA1	c.4185+21_4185+38del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242932_41242949del	(Likely) benign	1 lab	b5c6b395af
20:56284632 PMEPA1 G>T	20	56284632	56284632	G	T	PMEPA1	c.7C>A	NM_020182.5	NP_064567.2:p.(Arg3Ser)	NC_000020.10:g.56284632G>T	(Likely) benign	1 lab	b5c8440e8a
1:218567407 TGFB2 C>A	1	218567407	218567407	C	A	TGFB2	c.347-11104C>A	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218567407C>A	(Likely) benign	1 lab	b5c99a400a
7:26237494 HNRNPA2B1 G>GA	7	26237494	26237504	G	GA	HNRNPA2B1	c.7-9dup	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26237504dup	(Likely) benign	1 lab	b5cb7ee98c
15:48712977 FBN1 G>A	15	48712977	48712977	G	A	FBN1	c.7726C>T	NM_000138.5	NP_000129.3:p.(Arg2576Cys)	NC_000015.9:g.48712977G>A	(Likely) pathogenic	1 lab	b5cc469e07
2:179578889 TTN A>T	2	179578889	179578889	A	T	TTN	c.26496T>A	NM_001267550.2	NP_001254479.2:p.(Ile8832=)	NC_000002.11:g.179578889A>T	(Likely) benign	1 lab	b5d1a56540
19:50747589 MYH14 A>G	19	50747589	50747589	A	G	MYH14	c.1205A>G	NM_001145809.2	NP_001139281.1:p.(Asn402Ser)	NC_000019.9:g.50747589A>G	(Likely) benign	1 lab	b5d1edbccf
19:9557452 MISSING A>Alt too long to show for this DUP	19	9557452	9678828	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.9557455_9678828dup	VUS	1 lab	b5d39917af
12:18526886 PIK3C2G Ref too long to show for this DEL>A	12	18526886	18542767	Ref too long to show for this DEL	A	PIK3C2G	c.1880+2643_1996-1289del	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18526888_18542767del	VUS	1 lab	b5d661ea70
6:75823047 COL12A1 G>A	6	75823047	75823047	G	A	COL12A1	c.7841-18C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75823047G>A	(Likely) benign	1 lab	b5db21ec01
8:144296637 GPIHBP1 C>G	8	144296637	144296637	C	G	GPIHBP1	c.182-251C>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296637C>G	(Likely) benign	1 lab	b5db8dae4a
15:48707942 FBN1 A>C	15	48707942	48707942	A	C	FBN1	c.7842T>G	NM_000138.5	NP_000129.3:p.(Ala2614=)	NC_000015.9:g.48707942A>C	(Likely) benign	1 lab	b5df668e79
1:55527139 PCSK9 C>G	1	55527139	55527139	C	G	PCSK9	c.1773C>G	NM_174936.4	NP_777596.2:p.(His591Gln)	NC_000001.10:g.55527139C>G	(Likely) benign	1 lab	b5df7cbf7c
22:46793592 CELSR1 A>G	22	46793592	46793592	A	G	CELSR1	c.5680T>C	NM_001378328.1	NP_001365257.1:p.(Tyr1894His)	NC_000022.10:g.46793592A>G	(Likely) benign	1 lab	b5e024990b
7:100414994 EPHB4 T>C	7	100414994	100414994	T	C	EPHB4	c.1423-15A>G	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100414994T>C	(Likely) benign	1 lab	b5e21deaee
2:44059096 ABCG5 T>C	2	44059096	44059096	T	C	ABCG5	c.392A>G	NM_022436.3	NP_071881.1:p.(Tyr131Cys)	NC_000002.11:g.44059096T>C	(Likely) pathogenic	1 lab	b5e3b24861
19:11226767 LDLR C>G	19	11226767	11226767	C	G	LDLR	c.1587-3C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226767C>G	(Likely) pathogenic	1 lab	b5e447fa3b
6:56328399 DST C>T	6	56328399	56328399	C	T	DST	c.22923G>A	NM_001374736.1	NP_001361665.1:p.(Ala7641=)	NC_000006.11:g.56328399C>T	(Likely) benign	1 lab	b5e4c1bfc0
12:88472909 CEP290 T>C	12	88472909	88472909	T	C	CEP290	c.5324A>G	NM_025114.4	NP_079390.3:p.(Asn1775Ser)	NC_000012.11:g.88472909T>C	VUS	1 lab	b5e67333a7
5:71492182 MAP1B C>T	5	71492182	71492182	C	T	MAP1B	c.3000C>T	NM_005909.5	NP_005900.2:p.(Ala1000=)	NC_000005.9:g.71492182C>T	(Likely) benign	1 lab	b5ed811b97
2:21230273 APOB GT>G	2	21230273	21230279	GT	G	APOB	c.9466del	NM_000384.3	NP_000375.3:p.(Thr3156GlnfsTer3)	NC_000002.11:g.21230279del	(Likely) pathogenic	1 lab	b5f06c7735
7:140434597 BRAF G>GA	7	140434597	140434606	G	GA	BRAF	c.2128-28dup	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434606dup	(Likely) benign	1 lab	b5f18cd3f7
15:71433891 THSD4 C>G	15	71433891	71433891	C	G	THSD4	c.25C>G	NM_024817.2	NP_079093.2:p.(Leu9Val)	NC_000015.9:g.71433891C>G	(Likely) benign	1 lab	b5f3f75c2b
2:189857448 COL3A1 T>C	2	189857448	189857448	T	C	COL3A1	c.997-165T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189857448T>C	(Likely) benign	1 lab	b5f488ca07
9:137688744 COL5A1 C>G	9	137688744	137688744	C	G	COL5A1	c.2895C>G	NM_000093.5	NP_000084.3:p.(Pro965=)	NC_000009.11:g.137688744C>G	(Likely) benign	1 lab	b5f504f0a4
11:47371732 MYBPC3 A>T	11	47371732	47371732	A	T	MYBPC3	c.407-69T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371732A>T	(Likely) benign	1 lab	b5f641d8d3
2:21232221 APOB G>A	2	21232221	21232221	G	A	APOB	c.7519C>T	NM_000384.3	NP_000375.3:p.(His2507Tyr)	NC_000002.11:g.21232221G>A	(Likely) benign	1 lab	b5fc28847e
15:75600107 MISSING G>Alt too long to show for this DUP	15	75600107	75673297	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.75600109_75673297dup	VUS	1 lab	b5fc5dcd30
19:45451938 APOC2 G>C	19	45451938	45451938	G	C	APOC2	c.56-20G>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451938G>C	(Likely) benign	1 lab	b5fd6dae2d
14:23902930 MYH7 C>T	14	23902930	23902930	C	T	MYH7	c.12G>A	NM_000257.4	NP_000248.2:p.(Ser4=)	NC_000014.8:g.23902930C>T	(Likely) benign	1 lab	b5fe8eaa8c
2:21233957 APOB T>C	2	21233957	21233957	T	C	APOB	c.5783A>G	NM_000384.3	NP_000375.3:p.(Tyr1928Cys)	NC_000002.11:g.21233957T>C	(Likely) benign	1 lab	b5ffe6e238
21:46117719 KRTAP10-12 T>C	21	46117719	46117719	T	C	KRTAP10-12	c.603T>C	NM_198699.1	NP_941972.1:p.(Pro201=)	NC_000021.8:g.46117719T>C	(Likely) benign	1 lab	b5fffdfbfe
15:48780287 FBN1 T>G	15	48780287	48780287	T	G	FBN1	c.3337+23A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780287T>G	(Likely) benign	1 lab	b608f59b43
9:107563397 ABCA1 T>TAAAAAA	9	107563397	107563409	T	TAAAAAA	ABCA1	c.4699-538_4699-533dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563404_107563409dup	(Likely) benign	1 lab	b609652483
16:921283 LMF1 C>T	16	921283	921283	C	T	LMF1	c.557G>A	NM_001352018.2	NP_001338947.1:p.(Ser186Asn)	NC_000016.9:g.921283C>T	VUS	1 lab	b60b12cb62
2:44058990 ABCG5 C>T	2	44058990	44058990	C	T	ABCG5	c.419G>A	NM_022436.3	NP_071881.1:p.(Ser140Asn)	NC_000002.11:g.44058990C>T	VUS	1 lab	b60bfa3c04
1:12062158 MFN2 G>T	1	12062158	12062158	G	T	MFN2	c.1158G>T	NM_014874.4	NP_055689.1:p.(Gln386His)	NC_000001.10:g.12062158G>T	(Likely) pathogenic	1 lab	b60deeb1c1
6:56505044 DST C>T	6	56505044	56505044	C	T	DST	c.2288G>A	NM_001144769.5	NP_001138241.1:p.(Arg763Gln)	NC_000006.11:g.56505044C>T	VUS	1 lab	b611e27f91
3:38743435 SCN10A C>T	3	38743435	38743435	C	T	SCN10A	c.4552G>A	NM_006514.4	NP_006505.4:p.(Val1518Ile)	NC_000003.11:g.38743435C>T	(Likely) benign	1 lab	b615304cde
4:8869790 HMX1 G>A	4	8869790	8869790	G	A	HMX1	c.676C>T	NM_018942.3	NP_061815.2:p.(Arg226Cys)	NC_000004.11:g.8869790G>A	(Likely) benign	1 lab	b618854c7f
9:107589333 ABCA1 G>C	9	107589333	107589333	G	C	ABCA1	c.2233C>G	NM_005502.4	NP_005493.2:p.(Leu745Val)	NC_000009.11:g.107589333G>C	VUS	1 lab	b61cc0bda6
17:59760708 BRIP1 G>T	17	59760708	59760708	G	T	BRIP1	c.3699C>A	NM_032043.3	NP_114432.2:p.(Asn1233Lys)	NC_000017.10:g.59760708G>T	VUS	1 lab	b61e809fce
4:100503236 MTTP T>G	4	100503236	100503236	T	G	MTTP	c.236T>G	NM_000253.4	NP_000244.2:p.(Leu79Trp)	NC_000004.11:g.100503236T>G	VUS	1 lab	b61fd81d0e
X:153587762 FLNA C>T	X	153587762	153587762	C	T	FLNA	c.4155G>A	NM_001110556.2	NP_001104026.1:p.(Thr1385=)	NC_000023.10:g.153587762C>T	(Likely) benign	1 lab	b62516757e
12:112036767 ATXN2 C>CTGCTGCTGCTGT	12	112036767	112036779	C	CTGCTGCTGCTGT	ATXN2	c.71_72insACAGCAGCAGCA	NM_002973.4	NP_002964.4:p.(Gln25_Gln28dup)	NC_000012.11:g.112036778_112036779insTTGCTGCTGCTG	(Likely) benign	1 lab	b62835c51e
14:68192873 RDH12 G>A	14	68192873	68192873	G	A	RDH12	c.448+1G>A	NM_152443.3	NP_689656.2:p.?	NC_000014.8:g.68192873G>A	(Likely) pathogenic	1 lab	b628cd0db2
2:152527706 NEB C>A	2	152527706	152527706	C	A	NEB	c.4337G>T	NM_001271208.2	NP_001258137.2:p.(Gly1446Val)	NC_000002.11:g.152527706C>A	(Likely) pathogenic	1 lab	b62afdf6bb
8:1653884 MISSING T>Alt too long to show for this DUP	8	1653884	1685064	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1653885_1685064dup	VUS	1 lab	b62c3ac449
19:55377280 KIR3DL2 G>A	19	55377280	55377280	G	A	KIR3DL2	c.1021G>A	NM_006737.4	NP_006728.2:p.(Val341Ile)	NC_000019.9:g.55377280G>A	(Likely) benign	1 lab	b62cfb3483
12:50501870 GPD1 C>T	12	50501870	50501870	C	T	GPD1	c.910C>T	NM_005276.4	NP_005267.2:p.(Arg304Trp)	NC_000012.11:g.50501870C>T	VUS	1 lab	b62fbbedcb
3:57882601 SLMAP C>T	3	57882601	57882601	C	T	SLMAP	c.1341C>T	NM_007159.5	NP_009090.2:p.(Asp447=)	NC_000003.11:g.57882601C>T	(Likely) benign	1 lab	b6351e62fe
1:156851382 NTRK1 G>C	1	156851382	156851382	G	C	NTRK1	c.2339G>C	NM_002529.3	NP_002520.2:p.(Arg780Pro)	NC_000001.10:g.156851382G>C	(Likely) pathogenic	1 lab	b63645ef14
12:32996206 PKP2 C>T	12	32996206	32996206	C	T	PKP2	c.1420G>A	NM_004572.4	NP_004563.2:p.(Ala474Thr)	NC_000012.11:g.32996206C>T	(Likely) benign	1 lab	b636f16e4e
9:27168571 TEK T>C	9	27168571	27168571	T	C	TEK	c.443T>C	NM_000459.5	NP_000450.3:p.(Ile148Thr)	NC_000009.11:g.27168571T>C	(Likely) benign	1 lab	b638a66fc1
2:17018 MISSING Ref too long to show for this DEL>A	2	17018	2692574	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.17019_2692574del	(Likely) pathogenic	1 lab	b63aa0d3e2
16:28880624 SH2B1 C>T	16	28880624	28880624	C	T	SH2B1	c.1229C>T	NM_015503.3	NP_056318.2:p.(Ser410Phe)	NC_000016.9:g.28880624C>T	(Likely) benign	1 lab	b63c9c664d
2:44059221 ABCG5 G>A	2	44059221	44059221	G	A	ABCG5	c.267C>T	NM_022436.3	NP_071881.1:p.(Gly89=)	NC_000002.11:g.44059221G>A	(Likely) benign	1 lab	b640f6e237
17:45221273 CDC27 A>C	17	45221273	45221273	A	C	CDC27	c.1164T>G	NM_001114091.4	NP_001107563.1:p.(Phe388Leu)	NC_000017.10:g.45221273A>C	(Likely) benign	1 lab	b6448dc769
2:44039733 ABCG5 C>T	2	44039733	44039733	C	T	ABCG5	c.*522G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44039733C>T	(Likely) benign	1 lab	b64cfaf55a
4:564763 MISSING T>Alt too long to show for this DUP	4	564763	1321152	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.564765_1321152dup	VUS	1 lab	b653274398
1:3328086 PRDM16 G>A	1	3328086	3328086	G	A	PRDM16	c.1325G>A	NM_022114.4	NP_071397.3:p.(Arg442Gln)	NC_000001.10:g.3328086G>A	VUS	1 lab	b6534e97d2
5:150503872 ANXA6 C>T	5	150503872	150503872	C	T	ANXA6	c.1017G>A	NM_001193544.2	NP_001180473.1:p.(Ala339=)	NC_000005.9:g.150503872C>T	(Likely) benign	1 lab	b654dc810b
7:128483876 FLNC T>A	7	128483876	128483876	T	A	FLNC	c.2838T>A	NM_001458.5	NP_001449.3:p.(Tyr946Ter)	NC_000007.13:g.128483876T>A	(Likely) pathogenic	1 lab	b65d211cc5
7:128658057 TNPO3 G>A	7	128658057	128658057	G	A	TNPO3	c.275C>T	NM_012470.4	NP_036602.1:p.(Thr92Ile)	NC_000007.13:g.128658057G>A	VUS	1 lab	b6615fd72a
6:135726118 AHI1 A>G	6	135726118	135726118	A	G	AHI1	c.2962-3T>C	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135726118A>G	(Likely) benign	1 lab	b661af73de
7:100639937 MUC12 G>A	7	100639937	100639937	G	A	MUC12	c.6093G>A	NM_001164462.1	NP_001157934.1:p.(Thr2031=)	NC_000007.13:g.100639937G>A	(Likely) benign	1 lab	b661bd3bb0
5:90111532 ADGRV1 T>C	5	90111532	90111532	T	C	ADGRV1	c.16175T>C	NM_032119.4	NP_115495.3:p.(Ile5392Thr)	NC_000005.9:g.90111532T>C	(Likely) benign	1 lab	b666180807
17:26801893 MISSING Ref too long to show for this DEL>C	17	26801893	26838350	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.26801894_26838350del	VUS	1 lab	b66865fedb
16:90001306 TUBB3 G>A	16	90001306	90001306	G	A	TUBB3	c.231G>A	NM_001197181.2	NP_001184110.1:p.(Thr77=)	NC_000016.9:g.90001306G>A	(Likely) benign	1 lab	b66966c712
1:66102163 LEPR C>T	1	66102163	66102163	C	T	LEPR	c.2963C>T	NM_002303.6	NP_002294.2:p.(Thr988Met)	NC_000001.10:g.66102163C>T	VUS	1 lab	b66b72b21b
2:220285012 DES C>T	2	220285012	220285012	C	T	DES	c.679C>T	NM_001927.4	NP_001918.3:p.(Arg227Cys)	NC_000002.11:g.220285012C>T	VUS	1 lab	b66e2d511b
20:25275617 ABHD12 G>A	20	25275617	25275617	G	A	ABHD12	c.1207C>T	NM_015600.5	NP_056415.1:p.(Leu403=)	NC_000020.10:g.25275617G>A	(Likely) benign	1 lab	b66f34c6db
16:89349466 ANKRD11 C>T	16	89349466	89349466	C	T	ANKRD11	c.3484G>A	NM_001256182.2	NP_001243111.1:p.(Asp1162Asn)	NC_000016.9:g.89349466C>T	VUS	1 lab	b672150013
3:38595949 SCN5A A>G	3	38595949	38595949	A	G	SCN5A	c.4634T>C	NM_198056.3	NP_932173.1:p.(Met1545Thr)	NC_000003.11:g.38595949A>G	VUS	1 lab	b673a49451
12:122243074 SETD1B G>A	12	122243074	122243074	G	A	SETD1B	c.225G>A	NM_001353345.2	NP_001340274.1:p.(Gly75=)	NC_000012.11:g.122243074G>A	(Likely) benign	1 lab	b67bad97c2
2:128018906 ERCC3 C>G	2	128018906	128018906	C	G	ERCC3	c.1962G>C	NM_000122.2	NP_000113.1:p.(Glu654Asp)	NC_000002.11:g.128018906C>G	(Likely) benign	1 lab	b67c335115
14:75018880 LTBP2 C>A	14	75018880	75018880	C	A	LTBP2	c.1399+10G>T	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.75018880C>A	(Likely) benign	1 lab	b67e4205ed
X:67940833 MISSING C>Alt too long to show for this DUP	X	67940833	68529064	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.67940835_68529064dup	VUS	1 lab	b67e9d9c1d
9:137714567 COL5A1 C>CG	9	137714567	137714568	C	CG	COL5A1	c.4609-277_4609-276insG	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137714567_137714568insG	(Likely) benign	1 lab	b67ead8c6f
18:28651553 DSC2 A>C	18	28651553	28651553	A	C	DSC2	c.2125+18T>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28651553A>C	(Likely) benign	1 lab	b67f8c990c
11:27722510 BDNF A>G	11	27722510	27722510	A	G	BDNF	c.3+20449T>C	NM_170731.5	NP_733927.1:p.?	NC_000011.9:g.27722510A>G	(Likely) benign	1 lab	b68731f9fc
9:79959120 VPS13A G>A	9	79959120	79959120	G	A	VPS13A	c.7078G>A	NM_033305.3	NP_150648.2:p.(Glu2360Lys)	NC_000009.11:g.79959120G>A	VUS	1 lab	b68ef7a1ed
9:133556754 PRDM12 G>A	9	133556754	133556754	G	A	PRDM12	c.802G>A	NM_021619.3	NP_067632.2:p.(Asp268Asn)	NC_000009.11:g.133556754G>A	VUS	1 lab	b68f7c0986
2:1653323 PXDN C>T	2	1653323	1653323	C	T	PXDN	c.2229G>A	NM_012293.3	NP_036425.1:p.(Thr743=)	NC_000002.11:g.1653323C>T	(Likely) benign	1 lab	b6910adaf3
4:106359088 PPA2 T>C	4	106359088	106359088	T	C	PPA2	c.528+19A>G	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359088T>C	(Likely) benign	1 lab	b698232b9a
16:57005898 CETP C>T	16	57005898	57005898	C	T	CETP	c.659-6C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005898C>T	(Likely) benign	1 lab	b699476d50
5:178578300 ADAMTS2 G>C	5	178578300	178578300	G	C	ADAMTS2	c.1629+843C>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178578300G>C	(Likely) benign	1 lab	b69aafae76
11:119212341 MFRP G>A	11	119212341	119212341	G	A	MFRP	c.1657C>T	NM_031433.4	NP_113621.1:p.(Leu553=)	NC_000011.9:g.119212341G>A	(Likely) benign	1 lab	b69b8ed837
16:67976951 LCAT G>A	16	67976951	67976951	G	A	LCAT	c.311+8C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976951G>A	(Likely) benign	1 lab	b69d4c39e3
1:3347593 PRDM16 G>A	1	3347593	3347593	G	A	PRDM16	c.3442G>A	NM_022114.4	NP_071397.3:p.(Glu1148Lys)	NC_000001.10:g.3347593G>A	VUS	1 lab	b69d92a886
2:179572531 TTN T>C	2	179572531	179572531	T	C	TTN	c.28763A>G	NM_001267550.2	NP_001254479.2:p.(Lys9588Arg)	NC_000002.11:g.179572531T>C	VUS	1 lab	b69f034552
16:77327018 ADAMTS18 G>A	16	77327018	77327018	G	A	ADAMTS18	c.3144C>T	NM_199355.4	NP_955387.1:p.(Cys1048=)	NC_000016.9:g.77327018G>A	(Likely) benign	1 lab	b69faeabc6
1:237811912 RYR2 C>T	1	237811912	237811912	C	T	RYR2	c.7511C>T	NM_001035.3	NP_001026.2:p.(Thr2504Met)	NC_000001.10:g.237811912C>T	VUS	1 lab	b69ff79c7f
16:89986328 MC1R T>C	16	89986328	89986328	T	C	MC1R	c.662T>C	NM_002386.4	NP_002377.4:p.(Ile221Thr)	NC_000016.9:g.89986328T>C	VUS	1 lab	b6a34bc8f2
2:1491695 TPO T>A	2	1491695	1491695	T	A	TPO	c.1700T>A	NM_001206744.2	NP_001193673.1:p.(Leu567Gln)	NC_000002.11:g.1491695T>A	VUS	1 lab	b6a5352e2a
11:65307881 LTBP3 G>A	11	65307881	65307881	G	A	LTBP3	c.3107-28C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307881G>A	(Likely) benign	1 lab	b6a56c7919
9:107581162 ABCA1 G>A	9	107581162	107581162	G	A	ABCA1	c.3244C>T	NM_005502.4	NP_005493.2:p.(Arg1082Cys)	NC_000009.11:g.107581162G>A	VUS	1 lab	b6a91c2cee
X:123017894 XIAP T>Alt too long to show for this DUP	X	123017894	123021362	T	Alt too long to show for this DUP	XIAP	c.-32-1585_877+973dup	NM_001167.4	NP_001158.2:p.?	NC_000023.10:g.123017896_123021362dup	VUS	1 lab	b6adb6b76b
11:68702782 IGHMBP2 C>CG	11	68702782	68702783	C	CG	IGHMBP2	c.1648_1649insG	NM_002180.3	NP_002171.2:p.(Gln550ArgfsTer9)	NC_000011.9:g.68702782_68702783insG	(Likely) pathogenic	1 lab	b6aeb36376
10:85974342 CDHR1 GAGA>G	10	85974342	85974351	GAGA	G	CDHR1	c.2552_2554del	NM_033100.4	NP_149091.1:p.(Lys851del)	NC_000010.10:g.85974349_85974351del	(Likely) benign	1 lab	b6afda8c14
4:654372 PDE6B C>T	4	654372	654372	C	T	PDE6B	c.1584C>T	NM_000283.4	NP_000274.3:p.(Gly528=)	NC_000004.11:g.654372C>T	(Likely) benign	1 lab	b6b15c48c5
2:21236250 APOB C>T	2	21236250	21236250	C	T	APOB	c.3998G>A	NM_000384.3	NP_000375.3:p.(Arg1333Gln)	NC_000002.11:g.21236250C>T	VUS	1 lab	b6b7648687
3:123019021 ADCY5 A>T	3	123019021	123019021	A	T	ADCY5	c.2846T>A	NM_183357.3	NP_899200.1:p.(Val949Glu)	NC_000003.11:g.123019021A>T	VUS	1 lab	b6b852d8bd
20:4692971 MISSING G>Alt too long to show for this DUP	20	4692971	4778753	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.4692973_4778753dup	VUS	1 lab	b6b88f8bd3
9:95481186 BICD2 G>A	9	95481186	95481186	G	A	BICD2	c.1741C>T	NM_001003800.2	NP_001003800.1:p.(Arg581Cys)	NC_000009.11:g.95481186G>A	VUS	1 lab	b6bd787339
10:88476305 LDB3 G>T	10	88476305	88476305	G	T	LDB3	c.1468G>T	NM_001171610.2	NP_001165081.1:p.(Ala490Ser)	NC_000010.10:g.88476305G>T	VUS	1 lab	b75be55c58
3:50231541 GNAT1 G>A	3	50231541	50231541	G	A	GNAT1	c.595G>A	NM_144499.3	NP_653082.1:p.(Gly199Arg)	NC_000003.11:g.50231541G>A	VUS	1 lab	b6c38043e3
5:149310690 PDE6A C>T	5	149310690	149310690	C	T	PDE6A	c.759G>A	NM_000440.3	NP_000431.2:p.(Thr253=)	NC_000005.9:g.149310690C>T	(Likely) benign	1 lab	b6c4447b8e
3:38647599 SCN5A ATGAAG>A	3	38647599	38647604	ATGAAG	A	SCN5A	c.1176_1180del	NM_001099404.2	NP_001092874.1:p.(Phe393AlafsTer23)	NC_000003.11:g.38647600_38647604del	(Likely) benign	1 lab	b6c5a4a016
2:44071833 ABCG8 A>C	2	44071833	44071833	A	C	ABCG8	c.165+86A>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071833A>C	(Likely) benign	1 lab	b6c61e0296
19:11228142 LDLR C>CTTT	19	11228142	11228145	C	CTTT	LDLR	c.1845+470_1845+471insTTT	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228144_11228145insTTT	(Likely) benign	1 lab	b6c72b5b27
20:34091058 CEP250 C>A	20	34091058	34091058	C	A	CEP250	c.4861C>A	NM_007186.6	NP_009117.2:p.(Leu1621Met)	NC_000020.10:g.34091058C>A	(Likely) benign	1 lab	b6c7cffd93
3:128526470 RAB7A G>A	3	128526470	128526470	G	A	RAB7A	c.484G>A	NM_004637.6	NP_004628.4:p.(Val162Met)	NC_000003.11:g.128526470G>A	(Likely) pathogenic	1 lab	b6c9839ab0
16:80650682 CDYL2 Ref too long to show for this DEL>T	16	80650682	80663091	Ref too long to show for this DEL	T	CDYL2	c.834+3825_1008-3950del	NM_152342.4	NP_689555.2:p.?	NC_000016.9:g.80650683_80663091del	VUS	1 lab	b6ca7432bf
2:55883509 PNPT1 T>TA	2	55883509	55883522	T	TA	PNPT1	c.1285-4dup	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55883522dup	(Likely) benign	1 lab	b6caae99bc
11:76922359 MYO7A G>A	11	76922359	76922359	G	A	MYO7A	c.6214G>A	NM_000260.4	NP_000251.3:p.(Val2072Ile)	NC_000011.9:g.76922359G>A	(Likely) benign	1 lab	b6cce7a5c3
4:100522832 MTTP T>A	4	100522832	100522832	T	A	MTTP	c.1305T>A	NM_000253.4	NP_000244.2:p.(Leu435=)	NC_000004.11:g.100522832T>A	(Likely) benign	1 lab	b6ce4c5b75
1:237991698 RYR2 T>G	1	237991698	237991698	T	G	RYR2	c.14608T>G	NM_001035.3	NP_001026.2:p.(Phe4870Val)	NC_000001.10:g.237991698T>G	(Likely) pathogenic	1 lab	b6ceb9b69e
1:202569556 SYT2 G>A	1	202569556	202569556	G	A	SYT2	c.848C>T	NM_001136504.1	NP_001129976.1:p.(Thr283Met)	NC_000001.10:g.202569556G>A	VUS	1 lab	b6cfe43f30
9:107593279 ABCA1 C>A	9	107593279	107593279	C	A	ABCA1	c.1819G>T	NM_005502.4	NP_005493.2:p.(Val607Leu)	NC_000009.11:g.107593279C>A	VUS	1 lab	b6d1f6670d
16:57005910 CETP TC>T	16	57005910	57005912	TC	T	CETP	c.667del	NM_000078.3	NP_000069.2:p.(Leu223PhefsTer12)	NC_000016.9:g.57005912del	VUS	1 lab	b6d216601e
15:64458281 CSNK1G1 TA>T	15	64458281	64458294	TA	T	CSNK1G1	c.*5848del	NM_022048.5	NP_071331.2:p.?	NC_000015.9:g.64458294del	(Likely) benign	1 lab	b6d22aa09e
21:47410727 COL6A1 C>T	21	47410727	47410727	C	T	COL6A1	c.1043C>T	NM_001848.3	NP_001839.2:p.(Ser348Leu)	NC_000021.8:g.47410727C>T	VUS	1 lab	b6d5e3a291
9:107578437 ABCA1 G>A	9	107578437	107578437	G	A	ABCA1	c.3725C>T	NM_005502.4	NP_005493.2:p.(Thr1242Met)	NC_000009.11:g.107578437G>A	(Likely) pathogenic	1 lab	b6d7261991
9:98211549 PTCH1 G>A	9	98211549	98211549	G	A	PTCH1	c.3606C>T	NM_000264.5	NP_000255.2:p.(Pro1202=)	NC_000009.11:g.98211549G>A	(Likely) benign	1 lab	b6d7c62a4c
4:98200745 MISSING A>Alt too long to show for this DUP	4	98200745	98284196	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.98200746_98284196dup	VUS	1 lab	b6da9f56ee
12:20893108 SLCO1C1 C>T	12	20893108	20893108	C	T	SLCO1C1	c.1549-10C>T	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20893108C>T	(Likely) benign	1 lab	b6dd6fa9ee
12:104111544 STAB2 A>G	12	104111544	104111544	A	G	STAB2	c.4612-4A>G	NM_017564.10	NP_060034.9:p.?	NC_000012.11:g.104111544A>G	(Likely) benign	1 lab	b6de07a2fc
11:33199434 MISSING Ref too long to show for this DEL>A	11	33199434	33546330	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.33199435_33546330del	VUS	1 lab	b6e1165c0f
6:32557418 HLA-DRB1 A>G	6	32557418	32557418	A	G	HLA-DRB1	c.100+2T>C	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32557418A>G	(Likely) benign	1 lab	b6e1291ff0
19:5041263 KDM4B G>A	19	5041263	5041263	G	A	KDM4B	c.432+1G>A	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5041263G>A	(Likely) pathogenic	1 lab	b6e3cdd543
X:115576422 SLC6A14 Ref too long to show for this DEL>A	X	115576422	115578634	Ref too long to show for this DEL	A	SLC6A14	c.789+205_930+587del	NM_007231.5	NP_009162.1:p.?	NC_000023.10:g.115576423_115578634del	VUS	1 lab	b6ed48e016
2:96947610 SNRNP200 C>T	2	96947610	96947610	C	T	SNRNP200	c.4966G>A	NM_014014.5	NP_054733.2:p.(Val1656Met)	NC_000002.11:g.96947610C>T	VUS	1 lab	b6f0a27a6d
2:179593390 TTN G>A	2	179593390	179593390	G	A	TTN	c.19263C>T	NM_001267550.2	NP_001254479.2:p.(Asp6421=)	NC_000002.11:g.179593390G>A	(Likely) benign	1 lab	b6f5129489
1:151378336 POGZ G>A	1	151378336	151378336	G	A	POGZ	c.3175C>T	NM_015100.4	NP_055915.2:p.(Arg1059Cys)	NC_000001.10:g.151378336G>A	(Likely) benign	1 lab	b6f67663da
11:102207671 BIRC3 AC>A	11	102207671	102207672	AC	A	BIRC3	c.1654del	NM_001165.5	NP_001156.1:p.(Gln552LysfsTer16)	NC_000011.9:g.102207672del	(Likely) pathogenic	1 lab	b6f8602763
15:48829646 FBN1 G>A	15	48829646	48829646	G	A	FBN1	c.736+162C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48829646G>A	(Likely) benign	1 lab	b6f887627c
12:49433356 KMT2D G>A	12	49433356	49433356	G	A	KMT2D	c.8091C>T	NM_003482.4	NP_003473.3:p.(Arg2697=)	NC_000012.11:g.49433356G>A	(Likely) benign	1 lab	b6f9a55aaf
2:179631174 TTN T>C	2	179631174	179631174	T	C	TTN	c.9637A>G	NM_001267550.2	NP_001254479.2:p.(Ser3213Gly)	NC_000002.11:g.179631174T>C	VUS	1 lab	b6fad2fa63
6:33136310 COL11A2 G>T	6	33136310	33136310	G	T	COL11A2	c.3946C>A	NM_080680.3	NP_542411.2:p.(Pro1316Thr)	NC_000006.11:g.33136310G>T	(Likely) benign	1 lab	b6fbe56e93
1:236910985 ACTN2 C>T	1	236910985	236910985	C	T	ACTN2	c.801C>T	NM_001278344.2	NP_001265273.1:p.(Asp267=)	NC_000001.10:g.236910985C>T	(Likely) benign	1 lab	b6fd38fcab
3:53781440 CACNA1D G>T	3	53781440	53781440	G	T	CACNA1D	c.3339G>T	NM_000720.4	NP_000711.1:p.(Ala1113=)	NC_000003.11:g.53781440G>T	(Likely) benign	1 lab	b7062c89de
19:45412245 APOE G>A	19	45412245	45412245	G	A	APOE	c.770G>A	NM_001302688.2	NP_001289617.1:p.(Arg257Gln)	NC_000019.9:g.45412245G>A	VUS	1 lab	b7062d7bcf
22:46760086 CELSR1 C>T	22	46760086	46760086	C	T	CELSR1	c.8842G>A	NM_001378328.1	NP_001365257.1:p.(Gly2948Ser)	NC_000022.10:g.46760086C>T	(Likely) benign	1 lab	b709ae3b89
3:43607224 ANO10 C>CAAAA	3	43607224	43607242	C	CAAAA	ANO10	c.1219-9_1219-6dup	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607239_43607242dup	(Likely) benign	1 lab	b709bc4739
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	b70bcfd058
9:79244208 PRUNE2 TAAA>T	9	79244208	79244222	TAAA	T	PRUNE2	c.9051-5_9051-3del	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79244220_79244222del	(Likely) benign	1 lab	b70c7ccfc3
10:95113643 MYOF C>T	10	95113643	95113643	C	T	MYOF	c.3406G>A	NM_013451.4	NP_038479.1:p.(Val1136Ile)	NC_000010.10:g.95113643C>T	(Likely) benign	1 lab	b70cafe9bf
X:129283520 AIFM1 A>G	X	129283520	129283520	A	G	AIFM1	c.273T>C	NM_001130847.4	NP_001124319.1:p.(Asp91=)	NC_000023.10:g.129283520A>G	(Likely) benign	1 lab	b70cf35f4d
5:138160425 CTNNA1 C>T	5	138160425	138160425	C	T	CTNNA1	c.795C>T	NM_001903.5	NP_001894.2:p.(Asp265=)	NC_000005.9:g.138160425C>T	(Likely) benign	1 lab	b70fd7e69e
3:38592576 SCN5A C>T	3	38592576	38592576	C	T	SCN5A	c.5287G>A	NM_198056.3	NP_932173.1:p.(Val1763Met)	NC_000003.11:g.38592576C>T	(Likely) pathogenic	1 lab	b710cb92ce
16:88789666 PIEZO1 G>GCCTGCT	16	88789666	88789684	G	GCCTGCT	PIEZO1	c.4400_4405dup	NM_001142864.4	NP_001136336.2:p.(Glu1467_Gln1468dup)	NC_000016.9:g.88789679_88789684dup	(Likely) benign	1 lab	b711912074
3:58108831 FLNB C>T	3	58108831	58108831	C	T	FLNB	c.3138C>T	NM_001164317.2	NP_001157789.1:p.(His1046=)	NC_000003.11:g.58108831C>T	(Likely) benign	1 lab	b7123275ca
10:30822408 MISSING A>Alt too long to show for this DUP	10	30822408	30984163	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.30822412_30984163dup	VUS	1 lab	b717f3c0c8
1:63069799 ANGPTL3 C>T	1	63069799	63069799	C	T	ANGPTL3	c.1091C>T	NM_014495.4	NP_055310.1:p.(Ala364Val)	NC_000001.10:g.63069799C>T	(Likely) benign	1 lab	b717fdfc7f
1:237935381 RYR2 A>T	1	237935381	237935381	A	T	RYR2	c.11627A>T	NM_001035.3	NP_001026.2:p.(Asp3876Val)	NC_000001.10:g.237935381A>T	(Likely) pathogenic	1 lab	b719b57600
13:114321711 GRK1 G>A	13	114321711	114321711	G	A	GRK1	c.10G>A	NM_002929.3	NP_002920.1:p.(Gly4Arg)	NC_000013.10:g.114321711G>A	(Likely) benign	1 lab	b71a54160a
19:45451799 APOC2 G>C	19	45451799	45451799	G	C	APOC2	c.55+9G>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451799G>C	(Likely) benign	1 lab	b71f502abe
5:177035497 B4GALT7 C>A	5	177035497	177035497	C	A	B4GALT7	c.640-43C>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035497C>A	(Likely) benign	1 lab	b7208668f2
16:920885 LMF1 G>A	16	920885	920885	G	A	LMF1	c.680-3C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920885G>A	VUS	1 lab	b724b8097d
X:135278986 FHL1 G>C	X	135278986	135278986	G	C	FHL1	c.25G>C	NM_001159701.2	NP_001153173.1:p.(Ala9Pro)	NC_000023.10:g.135278986G>C	VUS	1 lab	b725b6b9fd
1:40782801 COL9A2 C>A	1	40782801	40782801	C	A	COL9A2	c.69G>T	NM_001852.4	NP_001843.1:p.(Ala23=)	NC_000001.10:g.40782801C>A	(Likely) benign	1 lab	b727cf8d45
19:55667593 TNNI3 G>A	19	55667593	55667593	G	A	TNNI3	c.258C>T	NM_000363.5	NP_000354.4:p.(Ala86=)	NC_000019.9:g.55667593G>A	(Likely) benign	1 lab	b7286ae8ae
10:94366486 KIF11 G>A	10	94366486	94366486	G	A	KIF11	c.308+13G>A	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94366486G>A	(Likely) benign	1 lab	b7304d448f
12:125294703 SCARB1 C>G	12	125294703	125294703	C	G	SCARB1	c.842+17G>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125294703C>G	(Likely) benign	1 lab	b73901d78e
1:21894373 ALPL C>G	1	21894373	21894373	C	G	ALPL	c.649-224C>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21894373C>G	(Likely) benign	1 lab	b7396f3ce4
12:56630268 SLC39A5 C>G	12	56630268	56630268	C	G	SLC39A5	c.1034C>G	NM_173596.3	NP_775867.2:p.(Ala345Gly)	NC_000012.11:g.56630268C>G	VUS	1 lab	b739e6a935
16:89620238 SPG7 C>T	16	89620238	89620238	C	T	SPG7	c.1973C>T	NM_001363850.1	NP_001350779.1:p.(Ala658Val)	NC_000016.9:g.89620238C>T	(Likely) pathogenic	1 lab	b73b72ffb1
2:114002163 PAX8 C>G	2	114002163	114002163	C	G	PAX8	c.230G>C	NM_003466.4	NP_003457.1:p.(Gly77Ala)	NC_000002.11:g.114002163C>G	VUS	1 lab	b73c278cf7
22:41924608 ACO2 G>A	22	41924608	41924608	G	A	ACO2	c.2334G>A	NM_001098.3	NP_001089.1:p.(Leu778=)	NC_000022.10:g.41924608G>A	(Likely) benign	1 lab	b73d1a155c
3:195703614 MISSING Ref too long to show for this DEL>A	3	195703614	197348575	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.195703615_197348575del	(Likely) pathogenic	1 lab	b73e9944ec
2:21236207 APOB T>G	2	21236207	21236207	T	G	APOB	c.4041A>C	NM_000384.3	NP_000375.3:p.(Gln1347His)	NC_000002.11:g.21236207T>G	(Likely) benign	1 lab	b741299d1f
4:89227111 MISSING Ref too long to show for this DEL>C	4	89227111	89297731	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.89227114_89297731del	VUS	1 lab	b7431f7424
1:6530156 PLEKHG5 A>G	1	6530156	6530156	A	G	PLEKHG5	c.1800+140T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530156A>G	(Likely) benign	1 lab	b74364dd7d
11:68707880 IGHMBP2 T>C	11	68707880	68707880	T	C	IGHMBP2	c.*681T>C	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68707880T>C	(Likely) benign	1 lab	b747eccd66
14:21679678 HNRNPC C>A	14	21679678	21679678	C	A	HNRNPC	c.724G>T	NM_031314.3	NP_112604.2:p.(Val242Leu)	NC_000014.8:g.21679678C>A	(Likely) benign	1 lab	b74a8ba3bb
2:179395935 TTN C>T	2	179395935	179395935	C	T	TTN	c.105407G>A	NM_001267550.2	NP_001254479.2:p.(Arg35136Gln)	NC_000002.11:g.179395935C>T	VUS	1 lab	b74cbc8c36
6:35480640 TULP1 C>G	6	35480640	35480640	C	G	TULP1	c.-5G>C	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35480640C>G	(Likely) benign	1 lab	b74d3235d5
X:73811755 RLIM C>G	X	73811755	73811755	C	G	RLIM	c.1395G>C	NM_183353.3	NP_899196.1:p.(Ser465=)	NC_000023.10:g.73811755C>G	(Likely) benign	1 lab	b75503dffa
2:179471929 TTN G>T	2	179471929	179471929	G	T	TTN	c.53400C>A	NM_001267550.2	NP_001254479.2:p.(Ile17800=)	NC_000002.11:g.179471929G>T	(Likely) benign	1 lab	b7554edbb0
X:9711701 GPR143 A>G	X	9711701	9711701	A	G	GPR143	c.671T>C	NM_000273.3	NP_000264.2:p.(Leu224Pro)	NC_000023.10:g.9711701A>G	VUS	1 lab	b75592ac92
21:45152116 MISSING G>Alt too long to show for this DUP	21	45152116	45204199	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.45152117_45204199dup	VUS	1 lab	b75a3c6f57
2:44079630 ABCG8 G>C	2	44079630	44079630	G	C	ABCG8	c.694+5G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079630G>C	VUS	1 lab	b7b3404b31
8:96187744 MISSING Ref too long to show for this DEL>C	8	96187744	96257710	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.96187745_96257710del	VUS	1 lab	b7631c9063
15:81282122 MESD G>A	15	81282122	81282122	G	A	MESD	c.11C>T	NM_015154.3	NP_055969.1:p.(Ser4Phe)	NC_000015.9:g.81282122G>A	(Likely) benign	1 lab	b765c1f801
19:7601138 PNPLA6 T>C	19	7601138	7601138	T	C	PNPLA6	c.321T>C	NM_001166111.2	NP_001159583.1:p.(Tyr107=)	NC_000019.9:g.7601138T>C	(Likely) benign	1 lab	b765cbc3c0
20:25371132 ABHD12 T>C	20	25371132	25371132	T	C	ABHD12	c.191+17A>G	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371132T>C	(Likely) benign	1 lab	b7675450fb
7:128483582 FLNC T>C	7	128483582	128483582	T	C	FLNC	c.2762T>C	NM_001458.5	NP_001449.3:p.(Ile921Thr)	NC_000007.13:g.128483582T>C	VUS	1 lab	b768f5ee9c
3:8787241 CAV3 T>C	3	8787241	8787241	T	C	CAV3	c.144T>C	NM_033337.3	NP_203123.1:p.(Pro48=)	NC_000003.11:g.8787241T>C	(Likely) benign	1 lab	b76a27f774
12:922963 WNK1 G>A	12	922963	922963	G	A	WNK1	c.915G>A	NM_001184985.2	NP_001171914.1:p.(Thr305=)	NC_000012.11:g.922963G>A	(Likely) benign	1 lab	b76eca7cd3
15:48777373 FBN1 T>C	15	48777373	48777373	T	C	FBN1	c.3712+198A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48777373T>C	(Likely) benign	1 lab	b772ab9459
2:179397818 TTN G>A	2	179397818	179397818	G	A	TTN	c.103524C>T	NM_001267550.2	NP_001254479.2:p.(Val34508=)	NC_000002.11:g.179397818G>A	(Likely) benign	1 lab	b773327138
1:10032156 NMNAT1 G>A	1	10032156	10032156	G	A	NMNAT1	c.25G>A	NM_001297778.1	NP_001284707.1:p.(Val9Met)	NC_000001.10:g.10032156G>A	(Likely) pathogenic	1 lab	b773f8f917
5:16477845 RETREG1 G>C	5	16477845	16477845	G	C	RETREG1	c.926C>G	NM_001034850.3	NP_001030022.1:p.(Ser309Ter)	NC_000005.9:g.16477845G>C	(Likely) pathogenic	1 lab	b774dd3f7a
9:107581949 ABCA1 A>C	9	107581949	107581949	A	C	ABCA1	c.3159T>G	NM_005502.4	NP_005493.2:p.(Val1053=)	NC_000009.11:g.107581949A>C	(Likely) benign	1 lab	b774f05f72
1:6534106 PLEKHG5 G>A	1	6534106	6534106	G	A	PLEKHG5	c.765C>T	NM_001265593.1	NP_001252522.1:p.(Asp255=)	NC_000001.10:g.6534106G>A	(Likely) benign	1 lab	b777681942
17:20770002 CCDC144NL C>A	17	20770002	20770002	C	A	CCDC144NL	n.573G>T	NR_164128.1		NC_000017.10:g.20770002C>A	(Likely) benign	1 lab	b77a093acd
16:23646998 MISSING Ref too long to show for this DEL>T	16	23646998	23678302	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.23647000_23678302del	(Likely) pathogenic	1 lab	b77b861405
7:6017250 PMS2 T>A	7	6017250	6017250	T	A	PMS2	c.2414A>T	NM_000535.7	NP_000526.2:p.(Gln805Leu)	NC_000007.13:g.6017250T>A	VUS	1 lab	b77e8d9f80
16:88495021 ZNF469 C>A	16	88495021	88495021	C	A	ZNF469	c.1143C>A	NM_001367624.2	NP_001354553.1:p.(Pro381=)	NC_000016.9:g.88495021C>A	(Likely) benign	1 lab	b782456a9f
19:11231057 LDLR T>G	19	11231057	11231057	T	G	LDLR	c.1999T>G	NM_000527.5	NP_000518.1:p.(Cys667Gly)	NC_000019.9:g.11231057T>G	(Likely) pathogenic	1 lab	b782f0870a
X:10535164 MID1 A>G	X	10535164	10535164	A	G	MID1	c.424T>C	NM_000381.4	NP_000372.1:p.(Cys142Arg)	NC_000023.10:g.10535164A>G	(Likely) pathogenic	1 lab	b7840e6f27
X:154209460 MISSING C>Alt too long to show for this DUP	X	154209460	154272031	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154209461_154272031dup	VUS	1 lab	b78818ca61
11:68213914 LRP5 C>T	11	68213914	68213914	C	T	LRP5	c.4499C>T	NM_002335.4	NP_002326.2:p.(Pro1500Leu)	NC_000011.9:g.68213914C>T	VUS	1 lab	b788b04554
6:56492781 DST A>T	6	56492781	56492781	A	T	DST	c.4539+16T>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56492781A>T	(Likely) benign	1 lab	b78d14e3d9
3:32201182 GPD1L G>A	3	32201182	32201182	G	A	GPD1L	c.959+16G>A	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32201182G>A	(Likely) benign	1 lab	b78d26025e
8:134107314 SLA C>T	8	134107314	134107314	C	T	SLA	c.-319+7483G>A	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134107314C>T	(Likely) benign	1 lab	b78dc24d81
3:167508206 SERPINI1 T>G	3	167508206	167508206	T	G	SERPINI1	c.297T>G	NM_005025.5	NP_005016.1:p.(Ala99=)	NC_000003.11:g.167508206T>G	(Likely) benign	1 lab	b78ef8e73c
11:47355678 MYBPC3 G>A	11	47355678	47355678	G	A	MYBPC3	c.2906-117C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355678G>A	(Likely) benign	1 lab	b790e79d01
20:62043227 KCNQ2 A>G	20	62043227	62043227	A	G	KCNQ2	c.1718T>C	NM_001382235.1	NP_001369164.1:p.(Met573Thr)	NC_000020.10:g.62043227A>G	(Likely) benign	1 lab	b790ebdd19
14:67768778 PALS1 G>GT	14	67768778	67768779	G	GT	PALS1	c.745dup	NM_022474.4	NP_071919.2:p.(Tyr249LeufsTer16)	NC_000014.8:g.67768779dup	VUS	1 lab	b79131d3b1
6:146351034 GRM1 G>A	6	146351034	146351034	G	A	GRM1	c.381G>A	NM_001278065.2	NP_001264994.1:p.(Leu127=)	NC_000006.11:g.146351034G>A	(Likely) benign	1 lab	b794c9fe31
11:88961142 TYR G>A	11	88961142	88961142	G	A	TYR	c.1184+4G>A	NM_000372.5	NP_000363.1:p.?	NC_000011.9:g.88961142G>A	(Likely) benign	1 lab	b794fffcc9
19:47104671 CALM3 C>T	19	47104671	47104671	C	T	CALM3	c.-21C>T	NM_005184.4	NP_005175.2:p.?	NC_000019.9:g.47104671C>T	(Likely) benign	1 lab	b797e5f529
4:186117896 MISSING T>Alt too long to show for this DUP	4	186117896	186299074	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.186117897_186299074dup	VUS	1 lab	b798a574dc
3:38655647 SCN5A C>T	3	38655647	38655647	C	T	SCN5A	c.612-322G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38655647C>T	(Likely) benign	1 lab	b7995911cb
17:5118133 SCIMP TA>T	17	5118133	5118157	TA	T	SCIMP	c.283+86del	NM_207103.3	NP_996986.1:p.?	NC_000017.10:g.5118157del	(Likely) benign	1 lab	b79b7c5657
2:86444252 REEP1 A>C	2	86444252	86444252	A	C	REEP1	c.596-19T>G	NM_022912.3	NP_075063.1:p.?	NC_000002.11:g.86444252A>C	(Likely) benign	1 lab	b79c4628d7
1:224621462 WDR26 T>A	1	224621462	224621462	T	A	WDR26	c.346A>T	NM_001115113.3	NP_001108585.2:p.(Lys116Ter)	NC_000001.10:g.224621462T>A	(Likely) pathogenic	1 lab	b7a88495e2
10:69926085 MYPN C>G	10	69926085	69926085	C	G	MYPN	c.1635C>G	NM_032578.4	NP_115967.2:p.(His545Gln)	NC_000010.10:g.69926085C>G	VUS	1 lab	b7ab9e663f
16:68849597 CDH1 C>T	16	68849597	68849597	C	T	CDH1	c.1500C>T	NM_004360.5	NP_004351.1:p.(Gly500=)	NC_000016.9:g.68849597C>T	(Likely) benign	1 lab	b7b0088d66
6:35480404 TULP1 G>T	6	35480404	35480404	G	T	TULP1	c.99+12C>A	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35480404G>T	(Likely) benign	1 lab	b7b4a76dad
15:73624602 HCN4 G>C	15	73624602	73624602	G	C	HCN4	c.1241C>G	NM_005477.3	NP_005468.1:p.(Ala414Gly)	NC_000015.9:g.73624602G>C	(Likely) pathogenic	1 lab	b7b681aa9e
8:19811841 LPL T>A	8	19811841	19811841	T	A	LPL	c.752T>A	NM_000237.3	NP_000228.1:p.(Val251Glu)	NC_000008.10:g.19811841T>A	VUS	1 lab	b7b81d8e9f
6:111527803 SLC16A10 T>C	6	111527803	111527803	T	C	SLC16A10	c.951T>C	NM_018593.5	NP_061063.2:p.(His317=)	NC_000006.11:g.111527803T>C	(Likely) benign	1 lab	b7b9587f02
12:21370679 SLCO1B1 C>T	12	21370679	21370679	C	T	SLCO1B1	c.1682+442C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370679C>T	(Likely) benign	1 lab	b7bc61de78
7:151329220 PRKAG2 G>A	7	151329220	151329220	G	A	PRKAG2	c.689C>T	NM_016203.4	NP_057287.2:p.(Ala230Val)	NC_000007.13:g.151329220G>A	VUS	1 lab	b7be211b3b
X:46736938 RP2 A>G	X	46736938	46736938	A	G	RP2	c.884-2A>G	NM_006915.3	NP_008846.2:p.?	NC_000023.10:g.46736938A>G	(Likely) pathogenic	1 lab	b7c4666d21
2:179414605 TTN A>G	2	179414605	179414605	A	G	TTN	c.91853-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179414605A>G	(Likely) benign	1 lab	b7c62daa47
2:21255213 APOB T>C	2	21255213	21255213	T	C	APOB	c.1352+13A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255213T>C	(Likely) benign	1 lab	b7cfc1c9a2
15:71507379 THSD4 G>A	15	71507379	71507379	G	A	THSD4	c.105G>A	NM_024817.2	NP_079093.2:p.(Pro35=)	NC_000015.9:g.71507379G>A	(Likely) benign	1 lab	b7d1906e0a
19:50919152 POLD1 G>A	19	50919152	50919152	G	A	POLD1	c.2820+69G>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50919152G>A	(Likely) benign	1 lab	b7d8438500
20:45355234 SLC2A10 A>C	20	45355234	45355234	A	C	SLC2A10	c.1289-269A>C	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45355234A>C	(Likely) benign	1 lab	b7d978382e
12:95453762 NR2C1 TA>T	12	95453762	95453783	TA	T	NR2C1	c.286-3del	NM_003297.4	NP_003288.2:p.?	NC_000012.11:g.95453783del	(Likely) benign	1 lab	b7da24f119
17:33445537 RAD51D C>T	17	33445537	33445537	C	T	RAD51D	c.246G>A	NM_002878.4	NP_002869.3:p.(Leu82=)	NC_000017.10:g.33445537C>T	(Likely) benign	1 lab	b7dc5013c2
11:1017917 MUC6 A>T	11	1017917	1017917	A	T	MUC6	c.4884T>A	NM_005961.3	NP_005952.2:p.(Thr1628=)	NC_000011.9:g.1017917A>T	(Likely) benign	1 lab	b7e3cce6eb
17:38785184 SMARCE1 A>G	17	38785184	38785184	A	G	SMARCE1	c.1089T>C	NM_003079.5	NP_003070.3:p.(Thr363=)	NC_000017.10:g.38785184A>G	(Likely) benign	1 lab	b7e3e093ba
4:3533916 LRPAP1 C>G	4	3533916	3533916	C	G	LRPAP1	c.204+20G>C	NM_002337.4	NP_002328.1:p.?	NC_000004.11:g.3533916C>G	(Likely) benign	1 lab	b7e50ca134
5:130498372 HINT1 A>G	5	130498372	130498372	A	G	HINT1	c.112-3T>C	NM_005340.7	NP_005331.1:p.?	NC_000005.9:g.130498372A>G	(Likely) benign	1 lab	b7e74e7302
1:115252364 NRAS A>G	1	115252364	115252364	A	G	NRAS	c.291-15T>C	NM_002524.5	NP_002515.1:p.?	NC_000001.10:g.115252364A>G	(Likely) benign	1 lab	b7e9cdb621
18:10696227 PIEZO2 C>T	18	10696227	10696227	C	T	PIEZO2	c.6696G>A	NM_022068.4	NP_071351.2:p.(Pro2232=)	NC_000018.9:g.10696227C>T	(Likely) benign	1 lab	b7ea193947
6:1529483 MISSING Ref too long to show for this DEL>A	6	1529483	2167335	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.1529484_2167335del	(Likely) pathogenic	1 lab	b7ecd22922
6:16145302 MYLIP C>T	6	16145302	16145302	C	T	MYLIP	c.1002C>T	NM_013262.4	NP_037394.2:p.(Gly334=)	NC_000006.11:g.16145302C>T	(Likely) benign	1 lab	b7ecf19d0e
3:195512628 MUC4 GCT>G	3	195512628	195512630	GCT	G	MUC4	c.5821_5822del	NM_018406.7	NP_060876.5:p.(Ser1941ProfsTer88)	NC_000003.11:g.195512629_195512630del	(Likely) benign	1 lab	b7f2d2a99d
15:72057477 THSD4 G>A	15	72057477	72057477	G	A	THSD4	c.2708G>A	NM_024817.2	NP_079093.2:p.(Ser903Asn)	NC_000015.9:g.72057477G>A	(Likely) benign	1 lab	b7f3d20509
11:121448030 SORL1 C>G	11	121448030	121448030	C	G	SORL1	c.3501C>G	NM_003105.6	NP_003096.2:p.(Ser1167=)	NC_000011.9:g.121448030C>G	(Likely) benign	1 lab	b7f481a84f
6:33411645 SYNGAP1 C>T	6	33411645	33411645	C	T	SYNGAP1	c.3316C>T	NM_006772.3	NP_006763.2:p.(Gln1106Ter)	NC_000006.11:g.33411645C>T	(Likely) pathogenic	1 lab	b7f4c4432d
5:113316025 MISSING T>Alt too long to show for this DUP	5	113316025	113692349	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.113316026_113692349dup	VUS	1 lab	b7f7026ebf
2:21231790 APOB A>C	2	21231790	21231790	A	C	APOB	c.7950T>G	NM_000384.3	NP_000375.3:p.(Phe2650Leu)	NC_000002.11:g.21231790A>C	VUS	1 lab	b7f81bb7af
2:179641466 TTN G>C	2	179641466	179641466	G	C	TTN	c.5125C>G	NM_133378.4	NP_596869.4:p.(Leu1709Val)	NC_000002.11:g.179641466G>C	VUS	1 lab	b7f864110a
2:21239299 APOB G>A	2	21239299	21239299	G	A	APOB	c.3332+12C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239299G>A	(Likely) benign	1 lab	b800490b74
5:64103424 CWC27 A>AGC	5	64103424	64103426	A	AGC	CWC27	c.939-1_939dup	NM_001297645.2	NP_001284574.1:p.?	NC_000005.9:g.64103425_64103426dup	(Likely) benign	1 lab	b804b1a7b6
15:85407684 ALPK3 T>C	15	85407684	85407684	T	C	ALPK3	c.4511T>C	NM_020778.5	NP_065829.4:p.(Leu1504Pro)	NC_000015.9:g.85407684T>C	VUS	1 lab	b807e9b153
12:49689955 PRPH C>T	12	49689955	49689955	C	T	PRPH	c.546-6C>T	NM_006262.4	NP_006253.2:p.?	NC_000012.11:g.49689955C>T	(Likely) benign	1 lab	b809b80028
1:153785854 GATAD2B A>G	1	153785854	153785854	A	G	GATAD2B	c.1291T>C	NM_020699.4	NP_065750.1:p.(Trp431Arg)	NC_000001.10:g.153785854A>G	(Likely) pathogenic	1 lab	b80a31414b
2:74328963 TET3 G>A	2	74328963	74328963	G	A	TET3	c.5048G>A	NM_001287491.2	NP_001274420.1:p.(Arg1683His)	NC_000002.11:g.74328963G>A	VUS	1 lab	b8119baf8a
X:9679677 TBL1X T>C	X	9679677	9679677	T	C	TBL1X	c.1466T>C	NM_005647.4	NP_005638.1:p.(Leu489Pro)	NC_000023.10:g.9679677T>C	VUS	1 lab	b8131b8bf9
19:11222003 LDLR G>A	19	11222003	11222003	G	A	LDLR	c.1061-187G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222003G>A	(Likely) benign	1 lab	b817467f7e
19:11223945 LDLR G>C	19	11223945	11223945	G	C	LDLR	c.1187-9G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223945G>C	(Likely) benign	1 lab	b8182d42f5
15:48782093 FBN1 C>T	15	48782093	48782093	C	T	FBN1	c.3037G>A	NM_000138.5	NP_000129.3:p.(Gly1013Arg)	NC_000015.9:g.48782093C>T	(Likely) pathogenic	1 lab	b8192e5907
3:49039984 P4HTM A>G	3	49039984	49039984	A	G	P4HTM	c.679A>G	NM_177939.3	NP_808808.1:p.(Ile227Val)	NC_000003.11:g.49039984A>G	(Likely) benign	1 lab	b8199df16e
7:91732133 AKAP9 A>T	7	91732133	91732133	A	T	AKAP9	c.11323A>T	NM_005751.5	NP_005742.4:p.(Ile3775Phe)	NC_000007.13:g.91732133A>T	VUS	1 lab	b81a8a373f
7:117243823 CFTR C>A	7	117243823	117243823	C	A	CFTR	c.2895C>A	NM_000492.4	NP_000483.3:p.(Asn965Lys)	NC_000007.13:g.117243823C>A	VUS	1 lab	b81e60aede
5:76003114 MISSING G>Alt too long to show for this DUP	5	76003114	76031004	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.76003116_76031004dup	VUS	1 lab	b821cf2ca4
1:161276552 MPZ G>A	1	161276552	161276552	G	A	MPZ	c.394C>T	NM_000530.8	NP_000521.2:p.(Pro132Ser)	NC_000001.10:g.161276552G>A	VUS	1 lab	b82477425e
2:37365709 EIF2AK2 G>A	2	37365709	37365709	G	A	EIF2AK2	c.536C>T	NM_002759.4	NP_002750.1:p.(Ser179Phe)	NC_000002.11:g.37365709G>A	VUS	1 lab	b825320bee
17:37822171 TCAP G>A	17	37822171	37822171	G	A	TCAP	c.313G>A	NM_003673.4	NP_003664.1:p.(Glu105Lys)	NC_000017.10:g.37822171G>A	VUS	1 lab	b826848a72
8:6299627 MCPH1 ACT>A	8	6299627	6299633	ACT	A	MCPH1	c.625_626del	NM_001322042.2	NP_001308971.2:p.(Leu209ValfsTer2)	NC_000008.10:g.6299632_6299633del	(Likely) pathogenic	1 lab	b827a51b66
5:140594466 PCDHB13 G>A	5	140594466	140594466	G	A	PCDHB13	c.771G>A	NM_018933.4	NP_061756.1:p.(Pro257=)	NC_000005.9:g.140594466G>A	(Likely) benign	1 lab	b828ec4004
8:43002220 HGSNAT C>G	8	43002220	43002220	C	G	HGSNAT	c.234+14C>G	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43002220C>G	(Likely) benign	1 lab	b82b874c8e
3:133667646 SLCO2A1 C>T	3	133667646	133667646	C	T	SLCO2A1	c.940+91G>A	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133667646C>T	(Likely) benign	1 lab	b82ecd396a
17:75478694 SEPTIN9 T>C	17	75478694	75478694	T	C	SEPTIN9	c.859+277T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75478694T>C	(Likely) benign	1 lab	b8353bd833
15:93408531 MISSING Ref too long to show for this DEL>A	15	93408531	95188862	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.93408532_95188862del	(Likely) pathogenic	1 lab	b8356a4740
9:130255092 LRSAM1 G>A	9	130255092	130255092	G	A	LRSAM1	c.1515G>A	NM_138361.5	NP_612370.3:p.(Ser505=)	NC_000009.11:g.130255092G>A	(Likely) benign	1 lab	b8368aac48
10:88441524 LDB3 T>C	10	88441524	88441524	T	C	LDB3	c.653T>C	NM_001171610.2	NP_001165081.1:p.(Leu218Pro)	NC_000010.10:g.88441524T>C	(Likely) benign	1 lab	b83c115deb
9:107589396 ABCA1 C>T	9	107589396	107589396	C	T	ABCA1	c.2170G>A	NM_005502.4	NP_005493.2:p.(Val724Met)	NC_000009.11:g.107589396C>T	VUS	1 lab	b83d270ae1
3:45965239 FYCO1 G>A	3	45965239	45965239	G	A	FYCO1	c.4270C>T	NM_024513.4	NP_078789.2:p.(Arg1424Ter)	NC_000003.11:g.45965239G>A	(Likely) pathogenic	1 lab	b840e0dc18
16:921194 LMF1 C>T	16	921194	921194	C	T	LMF1	c.646G>A	NM_001352018.2	NP_001338947.1:p.(Asp216Asn)	NC_000016.9:g.921194C>T	VUS	1 lab	b841f25c89
8:145625538 CPSF1 C>CGG	8	145625538	145625539	C	CGG	CPSF1	c.937+21_937+22insCC	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145625538_145625539insGG	(Likely) benign	1 lab	b8456fed09
19:31030540 ZNF536 Ref too long to show for this DEL>G	19	31030540	31036134	Ref too long to show for this DEL	G	ZNF536	c.2323+4635_2324-2716del	NM_014717.3	NP_055532.1:p.?	NC_000019.9:g.31030541_31036134del	VUS	1 lab	b846787980
1:55524195 PCSK9 G>A	1	55524195	55524195	G	A	PCSK9	c.1378G>A	NM_174936.4	NP_777596.2:p.(Val460Ile)	NC_000001.10:g.55524195G>A	(Likely) pathogenic	1 lab	b847ab62a5
15:67073557 SMAD6 T>C	15	67073557	67073557	T	C	SMAD6	c.1175T>C	NM_005585.5	NP_005576.3:p.(Leu392Pro)	NC_000015.9:g.67073557T>C	VUS	1 lab	b849597331
14:23900187 MYH7 A>G	14	23900187	23900187	A	G	MYH7	c.818T>C	NM_000257.4	NP_000248.2:p.(Val273Ala)	NC_000014.8:g.23900187A>G	VUS	1 lab	b84b55bb3a
2:21252864 APOB C>T	2	21252864	21252864	C	T	APOB	c.1376G>A	NM_000384.3	NP_000375.3:p.(Gly459Glu)	NC_000002.11:g.21252864C>T	(Likely) benign	1 lab	b84bde9de4
2:179408698 TTN C>T	2	179408698	179408698	C	T	TTN	c.96173G>A	NM_001267550.2	NP_001254479.2:p.(Arg32058Gln)	NC_000002.11:g.179408698C>T	VUS	1 lab	b84db91315
9:107582008 ABCA1 C>CA	9	107582008	107582015	C	CA	ABCA1	c.3104-5dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582015dup	(Likely) benign	1 lab	b84e8057f5
19:11218172 LDLR G>A	19	11218172	11218172	G	A	LDLR	c.922G>A	NM_000527.5	NP_000518.1:p.(Glu308Lys)	NC_000019.9:g.11218172G>A	(Likely) pathogenic	1 lab	b8502072d7
1:103548506 COL11A1 T>C	1	103548506	103548506	T	C	COL11A1	c.129A>G	NM_080629.3	NP_542196.2:p.(Lys43=)	NC_000001.10:g.103548506T>C	(Likely) benign	1 lab	b8555e82cf
7:72609071 MISSING Ref too long to show for this DEL>C	7	72609071	74259899	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72609072_74259899del	(Likely) pathogenic	1 lab	b85ee9a89f
15:58855875 LIPC C>T	15	58855875	58855875	C	T	LIPC	c.1341C>T	NM_000236.3	NP_000227.2:p.(Gly447=)	NC_000015.9:g.58855875C>T	(Likely) benign	1 lab	b85f0215cc
3:43607224 ANO10 CAAA>C	3	43607224	43607242	CAAA	C	ANO10	c.1219-8_1219-6del	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607240_43607242del	(Likely) benign	1 lab	b860375ab5
20:472826 CSNK2A1 CT>C	20	472826	472838	CT	C	CSNK2A1	c.621+71del	NM_001895.4	NP_001886.1:p.?	NC_000020.10:g.472838del	(Likely) benign	1 lab	b8670a5c25
11:64694269 PPP2R5B C>G	11	64694269	64694269	C	G	PPP2R5B	c.285C>G	NM_006244.4	NP_006235.1:p.(Ala95=)	NC_000011.9:g.64694269C>G	(Likely) benign	1 lab	b86cf450c5
19:12783862 WDR83 C>T	19	12783862	12783862	C	T	WDR83	c.615C>T	NM_001099737.3	NP_001093207.1:p.(Cys205=)	NC_000019.9:g.12783862C>T	(Likely) benign	1 lab	b86f4e9e7b
13:32914387 BRCA2 T>C	13	32914387	32914387	T	C	BRCA2	c.5895T>C	NM_000059.4	NP_000050.3:p.(Leu1965=)	NC_000013.10:g.32914387T>C	(Likely) benign	1 lab	b86f532026
13:38316711 TRPC4 Ref too long to show for this DEL>T	13	38316711	38339757	Ref too long to show for this DEL	T	TRPC4	c.378+17337_897+3362del	NM_016179.4	NP_057263.1:p.?	NC_000013.10:g.38316713_38339757del	VUS	1 lab	b870ef804d
2:105990140 FHL2 C>T	2	105990140	105990140	C	T	FHL2	c.207G>A	NM_001318895.3	NP_001305824.1:p.(Ser69=)	NC_000002.11:g.105990140C>T	(Likely) benign	1 lab	b8726301cb
X:133620474 HPRT1 G>GTT	X	133620474	133620488	G	GTT	HPRT1	c.319-8_319-7dup	NM_000194.3	NP_000185.1:p.?	NC_000023.10:g.133620487_133620488dup	(Likely) benign	1 lab	b8742764ae
2:44065936 ABCG5 T>G	2	44065936	44065936	T	G	ABCG5	c.-118A>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44065936T>G	(Likely) benign	1 lab	b874e48f3b
11:47356213 MYBPC3 G>A	11	47356213	47356213	G	A	MYBPC3	c.2905+380C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356213G>A	(Likely) benign	1 lab	b87b9afb36
19:3656636 PIP5K1C C>T	19	3656636	3656636	C	T	PIP5K1C	c.469-81G>A	NM_012398.3	NP_036530.1:p.?	NC_000019.9:g.3656636C>T	(Likely) benign	1 lab	b87d706898
14:102467359 DYNC1H1 G>A	14	102467359	102467359	G	A	DYNC1H1	c.4143G>A	NM_001376.5	NP_001367.2:p.(Ala1381=)	NC_000014.8:g.102467359G>A	(Likely) benign	1 lab	b87ebb7a4d
2:44049617 ABCG5 GC>G	2	44049617	44049626	GC	G	ABCG5	c.1463+318del	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049626del	(Likely) benign	1 lab	b881e25c13
X:149577752 MAMLD1 Ref too long to show for this DEL>C	X	149577752	149580834	Ref too long to show for this DEL	C	MAMLD1	c.-63-35966_-63-32886del	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149577754_149580834del	VUS	1 lab	b882d458dc
X:66766356 AR TGGC>T	X	66766356	66766408	TGGC	T	AR	c.1418_1420del	NM_000044.6	NP_000035.2:p.(Gly473del)	NC_000023.10:g.66766406_66766408del	(Likely) benign	1 lab	b883b92f2c
2:152084039 MISSING C>Alt too long to show for this DUP	2	152084039	152250574	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.152084041_152250574dup	VUS	1 lab	b885ce20b3
9:101907411 TGFBR1 A>C	9	101907411	101907411	A	C	TGFBR1	c.1130+241A>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101907411A>C	(Likely) benign	1 lab	b887759c53
1:3328119 PRDM16 C>T	1	3328119	3328119	C	T	PRDM16	c.1358C>T	NM_022114.4	NP_071397.3:p.(Pro453Leu)	NC_000001.10:g.3328119C>T	VUS	1 lab	b889549e3c
15:45388185 DUOX2 G>A	15	45388185	45388185	G	A	DUOX2	c.3921C>T	NM_001363711.2	NP_001350640.1:p.(Cys1307=)	NC_000015.9:g.45388185G>A	(Likely) benign	1 lab	b88b6270cc
17:45299742 MYL4 G>A	17	45299742	45299742	G	A	MYL4	c.488-4G>A	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45299742G>A	(Likely) benign	1 lab	b88c5d06fd
4:996623 IDUA C>T	4	996623	996623	C	T	IDUA	c.1293C>T	NM_000203.5	NP_000194.2:p.(Ala431=)	NC_000004.11:g.996623C>T	(Likely) benign	1 lab	b88d201a45
1:6532644 PLEKHG5 C>T	1	6532644	6532644	C	T	PLEKHG5	c.1230G>A	NM_001265593.1	NP_001252522.1:p.(Val410=)	NC_000001.10:g.6532644C>T	(Likely) benign	1 lab	b88d86810d
17:42953346 EFTUD2 A>T	17	42953346	42953346	A	T	EFTUD2	c.825T>A	NM_004247.4	NP_004238.3:p.(Tyr275Ter)	NC_000017.10:g.42953346A>T	(Likely) pathogenic	1 lab	b88e412e03
12:124293413 DNAH10 G>A	12	124293413	124293413	G	A	DNAH10	c.2703G>A	NM_207437.3	NP_997320.2:p.(Thr901=)	NC_000012.11:g.124293413G>A	(Likely) benign	1 lab	b88e9b15e4
3:193361887 OPA1 C>A	3	193361887	193361887	C	A	OPA1	c.1601C>A	NM_130837.3	NP_570850.2:p.(Pro534Gln)	NC_000003.11:g.193361887C>A	VUS	1 lab	b88ec6b64b
1:10408687 KIF1B A>C	1	10408687	10408687	A	C	KIF1B	c.3865-20A>C	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10408687A>C	(Likely) benign	1 lab	b8948a4500
6:137167329 PEX7 T>C	6	137167329	137167329	T	C	PEX7	c.526+10T>C	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137167329T>C	(Likely) benign	1 lab	b8976ebf31
15:48801943 FBN1 A>T	15	48801943	48801943	A	T	FBN1	c.1714+298T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48801943A>T	(Likely) benign	1 lab	b898ee9932
15:35084304 ACTC1 C>T	15	35084304	35084304	C	T	ACTC1	c.795G>A	NM_005159.5	NP_005150.1:p.(Gln265=)	NC_000015.9:g.35084304C>T	(Likely) benign	1 lab	b89bd1ace0
1:8425918 RERE C>T	1	8425918	8425918	C	T	RERE	c.1401G>A	NM_012102.4	NP_036234.3:p.(Ala467=)	NC_000001.10:g.8425918C>T	(Likely) benign	1 lab	b89bd93260
16:89998958 TUBB3 C>A	16	89998958	89998958	C	A	TUBB3	c.-159-21C>A	NM_001197181.2	NP_001184110.1:p.?	NC_000016.9:g.89998958C>A	(Likely) benign	1 lab	b89d167b4a
3:3186324 TRNT1 A>T	3	3186324	3186324	A	T	TRNT1	c.538A>T	NM_001367321.1	NP_001354250.1:p.(Lys180Ter)	NC_000003.11:g.3186324A>T	(Likely) pathogenic	1 lab	b8a069b883
1:63069624 ANGPTL3 A>G	1	63069624	63069624	A	G	ANGPTL3	c.932-16A>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63069624A>G	VUS	1 lab	b8a163ee8f
1:216348619 USH2A A>C	1	216348619	216348619	A	C	USH2A	c.4602T>G	NM_206933.4	NP_996816.3:p.(Thr1534=)	NC_000001.10:g.216348619A>C	(Likely) benign	1 lab	b8a2876648
12:2558177 CACNA1C G>A	12	2558177	2558177	G	A	CACNA1C	c.513G>A	NM_001167623.2	NP_001161095.1:p.(Thr171=)	NC_000012.11:g.2558177G>A	VUS	1 lab	b8a2a0d50d
1:248059707 OR2W3 C>T	1	248059707	248059707	C	T	OR2W3	c.819C>T	NM_001001957.2	NP_001001957.2:p.(Phe273=)	NC_000001.10:g.248059707C>T	(Likely) benign	1 lab	b8a2bbe465
22:25010878 GGT1 G>A	22	25010878	25010878	G	A	GGT1	c.295+5G>A	NM_001288833.2	NP_001275762.1:p.?	NC_000022.10:g.25010878G>A	(Likely) benign	1 lab	b8a31a0044
13:32911439 BRCA2 C>G	13	32911439	32911439	C	G	BRCA2	c.2947C>G	NM_000059.4	NP_000050.3:p.(Pro983Ala)	NC_000013.10:g.32911439C>G	(Likely) benign	1 lab	b8a4945138
8:17133974 MISSING A>Alt too long to show for this DUP	8	17133974	17919917	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.17133976_17919917dup	VUS	1 lab	b8a6223cd8
2:179597366 TTN T>C	2	179597366	179597366	T	C	TTN	c.16422A>G	NM_001267550.2	NP_001254479.2:p.(Gln5474=)	NC_000002.11:g.179597366T>C	(Likely) benign	1 lab	b8a64656c7
6:163942046 MISSING C>Alt too long to show for this DUP	6	163942046	164159702	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.163942047_164159702dup	VUS	1 lab	b8acb16093
2:44102287 ABCG8 C>T	2	44102287	44102287	C	T	ABCG8	c.1491C>T	NM_022437.3	NP_071882.1:p.(Ile497=)	NC_000002.11:g.44102287C>T	(Likely) benign	1 lab	b8adee5761
17:59793385 BRIP1 A>G	17	59793385	59793385	A	G	BRIP1	c.2419T>C	NM_032043.3	NP_114432.2:p.(Leu807=)	NC_000017.10:g.59793385A>G	(Likely) benign	1 lab	b8b11fc3f1
14:23853906 MYH6 C>T	14	23853906	23853906	C	T	MYH6	c.5310G>A	NM_002471.4	NP_002462.2:p.(Glu1770=)	NC_000014.8:g.23853906C>T	(Likely) benign	1 lab	b8b13fa6fb
6:119147916 MCM9 TA>T	6	119147916	119147921	TA	T	MCM9	c.1815+28del	NM_017696.3	NP_060166.2:p.?	NC_000006.11:g.119147921del	(Likely) benign	1 lab	b8b1c7b891
3:123338998 MYLK C>T	3	123338998	123338998	C	T	MYLK	c.5368+56G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123338998C>T	(Likely) benign	1 lab	b8b2954be0
2:166847972 SCN1A G>A	2	166847972	166847972	G	A	SCN1A	c.5813C>T	NM_001165963.4	NP_001159435.1:p.(Ala1938Val)	NC_000002.11:g.166847972G>A	VUS	1 lab	b8b2d61dd4
X:70444047 GJB1 C>T	X	70444047	70444047	C	T	GJB1	c.490C>T	NM_000166.6	NP_000157.1:p.(Arg164Trp)	NC_000023.10:g.70444047C>T	(Likely) pathogenic	1 lab	b8b766890b
11:47356373 MYBPC3 T>C	11	47356373	47356373	T	C	MYBPC3	c.2905+220A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356373T>C	(Likely) benign	1 lab	b9ad3a4613
1:94485171 ABCA4 GGT>G	1	94485171	94485174	GGT	G	ABCA4	c.5161_5162del	NM_000350.3	NP_000341.2:p.(Thr1721HisfsTer65)	NC_000001.10:g.94485173_94485174del	(Likely) pathogenic	1 lab	b8b7e6e393
13:96375574 DNAJC3 T>G	13	96375574	96375574	T	G	DNAJC3	c.272T>G	NM_006260.5	NP_006251.1:p.(Leu91Arg)	NC_000013.10:g.96375574T>G	VUS	1 lab	b8b9ba86f7
6:35467923 TULP1 C>T	6	35467923	35467923	C	T	TULP1	c.1330G>A	NM_003322.6	NP_003313.3:p.(Asp444Asn)	NC_000006.11:g.35467923C>T	VUS	1 lab	b8c3675c98
2:21239611 APOB C>G	2	21239611	21239611	C	G	APOB	c.3122-90G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239611C>G	(Likely) benign	1 lab	b8c5e2a8d7
1:156834527 NTRK1 G>A	1	156834527	156834527	G	A	NTRK1	c.295G>A	NM_002529.4	NP_002520.2:p.(Val99Met)	NC_000001.10:g.156834527G>A	VUS	1 lab	b8c5efde9b
7:91609659 AKAP9 T>C	7	91609659	91609659	T	C	AKAP9	c.351+12T>C	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91609659T>C	(Likely) benign	1 lab	b8c5f788d1
16:56997007 CETP C>G	16	56997007	56997007	C	G	CETP	c.204C>G	NM_000078.3	NP_000069.2:p.(Leu68=)	NC_000016.9:g.56997007C>G	(Likely) benign	1 lab	b8c8d732f3
12:50498554 GPD1 G>A	12	50498554	50498554	G	A	GPD1	c.219+20G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498554G>A	(Likely) benign	1 lab	b8ca408c50
10:75874150 VCL T>G	10	75874150	75874150	T	G	VCL	c.2949+5T>G	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75874150T>G	(Likely) benign	1 lab	b8cd01a0db
16:9943690 GRIN2A G>A	16	9943690	9943690	G	A	GRIN2A	c.1251C>T	NM_001134407.3	NP_001127879.1:p.(Val417=)	NC_000016.9:g.9943690G>A	(Likely) benign	1 lab	b8cdc43c41
5:131927060 RAD50 A>G	5	131927060	131927060	A	G	RAD50	c.1597A>G	NM_005732.4	NP_005723.2:p.(Thr533Ala)	NC_000005.9:g.131927060A>G	(Likely) benign	1 lab	b8d0bae128
19:50812342 MYH14 C>T	19	50812342	50812342	C	T	MYH14	c.5868C>T	NM_001145809.2	NP_001139281.1:p.(Ala1956=)	NC_000019.9:g.50812342C>T	(Likely) benign	1 lab	b8d2fc6776
12:49445528 KMT2D G>C	12	49445528	49445528	G	C	KMT2D	c.1938C>G	NM_003482.4	NP_003473.3:p.(Pro646=)	NC_000012.11:g.49445528G>C	(Likely) benign	1 lab	b8d45caa02
11:18429030 LDHC T>Alt too long to show for this DUP	11	18429030	18458393	T	Alt too long to show for this DUP	LDHC				NC_000011.9:g.18429032_18458393dup	VUS	1 lab	b8d55e4e9f
2:179575631 TTN A>T	2	179575631	179575631	A	T	TTN	c.28193T>A	NM_001267550.2	NP_001254479.2:p.(Phe9398Tyr)	NC_000002.11:g.179575631A>T	VUS	1 lab	b8d6b89a43
2:1520714 TPO G>A	2	1520714	1520714	G	A	TPO	c.2578G>A	NM_001206744.2	NP_001193673.1:p.(Gly860Arg)	NC_000002.11:g.1520714G>A	(Likely) pathogenic	1 lab	b8d714f3af
19:11217368 LDLR G>C	19	11217368	11217368	G	C	LDLR	c.817+5G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217368G>C	(Likely) pathogenic	1 lab	b8e34f1869
19:47258821 FKRP G>T	19	47258821	47258821	G	T	FKRP	c.114G>T	NM_001039885.3	NP_001034974.1:p.(Gly38=)	NC_000019.9:g.47258821G>T	(Likely) benign	1 lab	b8e5b6e0c5
12:50498412 GPD1 G>A	12	50498412	50498412	G	A	GPD1	c.97G>A	NM_005276.4	NP_005267.2:p.(Asp33Asn)	NC_000012.11:g.50498412G>A	VUS	1 lab	b8e720cba7
4:106395155 PPA2 A>C	4	106395155	106395155	A	C	PPA2	c.53T>G	NM_176869.3	NP_789845.1:p.(Leu18Arg)	NC_000004.11:g.106395155A>C	(Likely) benign	1 lab	b8eae39f51
7:128493629 FLNC C>T	7	128493629	128493629	C	T	FLNC	c.6315C>T	NM_001458.5	NP_001449.3:p.(Pro2105=)	NC_000007.13:g.128493629C>T	(Likely) benign	1 lab	b8f4447a1e
8:62460786 ASPH TG>T	8	62460786	62460787	TG	T	ASPH	c.1627-20del	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62460787del	(Likely) benign	1 lab	b8f453bc58
9:107620814 ABCA1 T>C	9	107620814	107620814	T	C	ABCA1	c.709A>G	NM_005502.4	NP_005493.2:p.(Lys237Glu)	NC_000009.11:g.107620814T>C	VUS	1 lab	b8f82a7c88
4:166910525 TLL1 T>Alt too long to show for this DUP	4	166910525	166987022	T	Alt too long to show for this DUP	TLL1	c.170-7_2188+7dup	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166910526_166987022dup	VUS	1 lab	b8f89bd32d
10:90982261 LIPA T>C	10	90982261	90982261	T	C	LIPA	c.894+7A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90982261T>C	(Likely) benign	1 lab	b8faebae0c
17:79502118 FSCN2 C>T	17	79502118	79502118	C	T	FSCN2	c.867C>T	NM_001077182.3	NP_001070650.1:p.(His289=)	NC_000017.10:g.79502118C>T	(Likely) benign	1 lab	b8fb0dd868
2:96952774 SNRNP200 G>A	2	96952774	96952774	G	A	SNRNP200	c.3609C>T	NM_014014.5	NP_054733.2:p.(Thr1203=)	NC_000002.11:g.96952774G>A	(Likely) benign	1 lab	b8fb84f8e9
9:80018132 VPS13A C>T	9	80018132	80018132	C	T	VPS13A	c.9190-20C>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.80018132C>T	(Likely) benign	1 lab	b8fcdb8750
3:38648174 SCN5A G>A	3	38648174	38648174	G	A	SCN5A	c.1126C>T	NM_198056.3	NP_932173.1:p.(Arg376Cys)	NC_000003.11:g.38648174G>A	(Likely) pathogenic	1 lab	b8fd68f36b
18:10770299 PIEZO2 C>T	18	10770299	10770299	C	T	PIEZO2	c.2718G>A	NM_022068.4	NP_071351.2:p.(Arg906=)	NC_000018.9:g.10770299C>T	(Likely) benign	1 lab	b8ff68627d
X:70444159 GJB1 G>T	X	70444159	70444159	G	T	GJB1	c.602G>T	NM_000166.6	NP_000157.1:p.(Cys201Phe)	NC_000023.10:g.70444159G>T	(Likely) pathogenic	1 lab	b90060c8a5
1:12061480 MFN2 G>A	1	12061480	12061480	G	A	MFN2	c.839G>A	NM_014874.4	NP_055689.1:p.(Arg280His)	NC_000001.10:g.12061480G>A	(Likely) pathogenic	1 lab	b9028b53f9
13:48916862 RB1 T>C	13	48916862	48916862	T	C	RB1	c.380+12T>C	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48916862T>C	(Likely) benign	1 lab	b904695d07
X:70443702 GJB1 T>C	X	70443702	70443702	T	C	GJB1	c.145T>C	NM_000166.6	NP_000157.1:p.(Ser49Pro)	NC_000023.10:g.70443702T>C	(Likely) pathogenic	1 lab	b905664255
4:9251798 USP17L18 A>G	4	9251798	9251798	A	G	USP17L18	c.1443A>G	NM_001256859.1	NP_001243788.1:p.(Glu481=)	NC_000004.11:g.9251798A>G	(Likely) benign	1 lab	b906233ed5
2:179638997 TTN C>T	2	179638997	179638997	C	T	TTN	c.6994G>A	NM_001267550.2	NP_001254479.2:p.(Asp2332Asn)	NC_000002.11:g.179638997C>T	VUS	1 lab	b9069920cf
5:90002221 ADGRV1 T>C	5	90002221	90002221	T	C	ADGRV1	c.8730+10T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002221T>C	(Likely) benign	1 lab	b907969da0
X:70443735 GJB1 T>C	X	70443735	70443735	T	C	GJB1	c.178T>C	NM_000166.6	NP_000157.1:p.(Cys60Arg)	NC_000023.10:g.70443735T>C	VUS	1 lab	b90ae4a69d
1:236899814 ACTN2 A>G	1	236899814	236899814	A	G	ACTN2	c.784-608A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236899814A>G	(Likely) benign	1 lab	b90b328149
6:32010287 TNXB C>T	6	32010287	32010287	C	T	TNXB	c.12149G>A	NM_019105.8	NP_061978.6:p.(Arg4050His)	NC_000006.11:g.32010287C>T	(Likely) benign	1 lab	b90cef0dd5
2:241706689 KIF1A A>G	2	241706689	241706689	A	G	KIF1A	c.1571T>C	NM_001244008.2	NP_001230937.1:p.(Ile524Thr)	NC_000002.11:g.241706689A>G	VUS	1 lab	b90d150b38
12:21353467 SLCO1B1 C>T	12	21353467	21353467	C	T	SLCO1B1	c.996C>T	NM_006446.5	NP_006437.3:p.(Ile332=)	NC_000012.11:g.21353467C>T	(Likely) benign	1 lab	b90d5b4c51
14:23899070 MYH7 T>G	14	23899070	23899070	T	G	MYH7	c.1052A>C	NM_000257.4	NP_000248.2:p.(Lys351Thr)	NC_000014.8:g.23899070T>G	(Likely) pathogenic	1 lab	b90db4a183
9:107558983 ABCA1 C>A	9	107558983	107558983	C	A	ABCA1	c.5122-278G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558983C>A	(Likely) benign	1 lab	b910f0fbb6
7:138665913 KIAA1549 G>A	7	138665913	138665913	G	A	KIAA1549	c.103C>T	NM_001164665.2	NP_001158137.1:p.(Arg35Cys)	NC_000007.13:g.138665913G>A	(Likely) benign	1 lab	b911014bf3
15:25961967 ATP10A C>A	15	25961967	25961967	C	A	ATP10A	c.1686G>T	NM_024490.3	NP_077816.1:p.(Ser562=)	NC_000015.9:g.25961967C>A	(Likely) benign	1 lab	b9124570d4
11:47372097 MYBPC3 G>A	11	47372097	47372097	G	A	MYBPC3	c.362C>T	NM_000256.3	NP_000247.2:p.(Pro121Leu)	NC_000011.9:g.47372097G>A	VUS	1 lab	b9142361d5
8:71037103 NCOA2 T>TA	8	71037103	71037114	T	TA	NCOA2	c.3917-4dup	NM_006540.4	NP_006531.1:p.?	NC_000008.10:g.71037114dup	(Likely) benign	1 lab	b91582f955
2:44079509 ABCG8 C>T	2	44079509	44079509	C	T	ABCG8	c.578C>T	NM_022437.3	NP_071882.1:p.(Ala193Val)	NC_000002.11:g.44079509C>T	VUS	1 lab	b9178dfa73
14:21793194 RPGRIP1 CTG>C	14	21793194	21793198	CTG	C	RPGRIP1	c.2183_2184del	NM_020366.4	NP_065099.3:p.(Val728GlyfsTer39)	NC_000014.8:g.21793197_21793198del	(Likely) pathogenic	1 lab	b91b4428fb
8:1828268 ARHGEF10 T>G	8	1828268	1828268	T	G	ARHGEF10	c.973T>G	NM_001308153.2	NP_001295082.1:p.(Leu325Val)	NC_000008.10:g.1828268T>G	VUS	1 lab	b91d775e09
9:35805645 NPR2 T>C	9	35805645	35805645	T	C	NPR2	c.2025T>C	NM_003995.4	NP_003986.2:p.(Asp675=)	NC_000009.11:g.35805645T>C	(Likely) benign	1 lab	b91ebd5120
X:54987322 PFKFB1 C>T	X	54987322	54987322	C	T	PFKFB1	c.252G>A	NM_002625.4	NP_002616.2:p.(Glu84=)	NC_000023.10:g.54987322C>T	(Likely) benign	1 lab	b91ed5f469
6:43223360 TTBK1 C>T	6	43223360	43223360	C	T	TTBK1	c.713C>T	NM_032538.3	NP_115927.1:p.(Pro238Leu)	NC_000006.11:g.43223360C>T	VUS	1 lab	b91f3f25e9
3:100962524 IMPG2 G>C	3	100962524	100962524	G	C	IMPG2	c.2651C>G	NM_016247.4	NP_057331.2:p.(Thr884Arg)	NC_000003.11:g.100962524G>C	VUS	1 lab	b91fcdf1aa
12:64891425 TBK1 C>T	12	64891425	64891425	C	T	TBK1	c.1960-3C>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891425C>T	(Likely) benign	1 lab	b9210b398e
2:179460363 TTN G>A	2	179460363	179460363	G	A	TTN	c.57718C>T	NM_001267550.2	NP_001254479.2:p.(Arg19240Ter)	NC_000002.11:g.179460363G>A	(Likely) pathogenic	1 lab	b9210b64b8
11:117214961 CEP164 C>T	11	117214961	117214961	C	T	CEP164	c.162C>T	NM_014956.5	NP_055771.4:p.(Ile54=)	NC_000011.9:g.117214961C>T	(Likely) benign	1 lab	b921624941
8:19805751 LPL C>G	8	19805751	19805751	C	G	LPL	c.149C>G	NM_000237.3	NP_000228.1:p.(Ala50Gly)	NC_000008.10:g.19805751C>G	VUS	1 lab	b921fe4b5d
17:58718084 MISSING A>Alt too long to show for this DUP	17	58718084	58814885	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.58718086_58814885dup	VUS	1 lab	b9230fdbff
1:179877015 TOR1AIP1 T>G	1	179877015	179877015	T	G	TOR1AIP1	c.841+16T>G	NM_001267578.2	NP_001254507.1:p.?	NC_000001.10:g.179877015T>G	(Likely) benign	1 lab	b926612625
X:53579357 HUWE1 G>A	X	53579357	53579357	G	A	HUWE1	c.8796C>T	NM_031407.7	NP_113584.3:p.(Ala2932=)	NC_000023.10:g.53579357G>A	(Likely) benign	1 lab	b926f07c43
19:13008220 GCDH G>A	19	13008220	13008220	G	A	GCDH	c.1060G>A	NM_000159.4	NP_000150.1:p.(Gly354Ser)	NC_000019.9:g.13008220G>A	(Likely) pathogenic	1 lab	b92a67f554
7:128494131 FLNC G>A	7	128494131	128494131	G	A	FLNC	c.6588G>A	NM_001458.5	NP_001449.3:p.(Thr2196=)	NC_000007.13:g.128494131G>A	(Likely) benign	1 lab	b92b08d17d
6:112496609 LAMA4 C>A	6	112496609	112496609	C	A	LAMA4	c.1263G>T	NM_001105206.3	NP_001098676.2:p.(Val421=)	NC_000006.11:g.112496609C>A	(Likely) benign	1 lab	b92ce5abb1
6:32011316 TNXB G>T	6	32011316	32011316	G	T	TNXB	c.11542C>A	NM_019105.8	NP_061978.6:p.(Gln3848Lys)	NC_000006.11:g.32011316G>T	VUS	1 lab	b92f33a524
11:118007822 SCN4B C>T	11	118007822	118007822	C	T	SCN4B	c.607G>A	NM_174934.4	NP_777594.1:p.(Val203Met)	NC_000011.9:g.118007822C>T	VUS	1 lab	b930d9333e
11:71276657 KRTAP5-10 A>AGGCTGTGGCTCCGGCTGTGGG	11	71276657	71276680	A	AGGCTGTGGCTCCGGCTGTGGG	KRTAP5-10	c.27_47dup	NM_001012710.2	NP_001012728.1:p.(Cys24_Gly30dup)	NC_000011.9:g.71276660_71276680dup	(Likely) benign	1 lab	b932a72513
15:48795992 FBN1 T>C	15	48795992	48795992	T	C	FBN1	c.2105A>G	NM_000138.5	NP_000129.3:p.(Gln702Arg)	NC_000015.9:g.48795992T>C	VUS	1 lab	b9342938ee
6:79711836 PHIP T>A	6	79711836	79711836	T	A	PHIP	c.1659A>T	NM_017934.7	NP_060404.4:p.(Ala553=)	NC_000006.11:g.79711836T>A	(Likely) benign	1 lab	b935bdf90c
2:44059104 ABCG5 G>A	2	44059104	44059104	G	A	ABCG5	c.384C>T	NM_022436.3	NP_071881.1:p.(Cys128=)	NC_000002.11:g.44059104G>A	(Likely) benign	1 lab	b93cdf5c56
2:121740385 GLI2 G>A	2	121740385	121740385	G	A	GLI2	c.1612G>A	NM_001371271.1	NP_001358200.1:p.(Glu538Lys)	NC_000002.11:g.121740385G>A	VUS	1 lab	b93d476d58
7:100420212 EPHB4 C>T	7	100420212	100420212	C	T	EPHB4	c.489G>A	NM_004444.5	NP_004435.3:p.(Thr163=)	NC_000007.13:g.100420212C>T	(Likely) benign	1 lab	b94023718f
19:1219316 STK11 G>A	19	1219316	1219316	G	A	STK11	c.375-7G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1219316G>A	(Likely) benign	1 lab	b94074c33c
2:179530098 TTN A>G	2	179530098	179530098	A	G	TTN	c.31484-2316T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179530098A>G	(Likely) benign	1 lab	b944d63f17
5:13781052 DNAH5 C>A	5	13781052	13781052	C	A	DNAH5	c.8837G>T	NM_001369.3	NP_001360.1:p.(Arg2946Leu)	NC_000005.9:g.13781052C>A	VUS	1 lab	b9457df23c
5:95746543 PCSK1 C>T	5	95746543	95746543	C	T	PCSK1	c.1030G>A	NM_000439.5	NP_000430.3:p.(Ala344Thr)	NC_000005.9:g.95746543C>T	VUS	1 lab	b945bf6dfd
18:48584356 SMAD4 A>T	18	48584356	48584356	A	T	SMAD4	c.668-139A>T	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584356A>T	(Likely) benign	1 lab	b94696da7b
1:161276204 MPZ C>G	1	161276204	161276204	C	G	MPZ	c.499G>C	NM_000530.8	NP_000521.2:p.(Gly167Arg)	NC_000001.10:g.161276204C>G	(Likely) pathogenic	1 lab	b94c1fbf3d
13:110831762 COL4A1 G>C	13	110831762	110831762	G	C	COL4A1	c.2200C>G	NM_001845.6	NP_001836.3:p.(Pro734Ala)	NC_000013.10:g.110831762G>C	VUS	1 lab	b94d15d5a5
11:47364542 MYBPC3 G>C	11	47364542	47364542	G	C	MYBPC3	c.1351+30C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364542G>C	(Likely) benign	1 lab	b94ee7ae00
3:129252497 RHO T>G	3	129252497	129252497	T	G	RHO	c.983T>G	NM_000539.3	NP_000530.1:p.(Leu328Arg)	NC_000003.11:g.129252497T>G	VUS	1 lab	b9515e4b63
7:128490092 FLNC C>T	7	128490092	128490092	C	T	FLNC	c.5262C>T	NM_001458.5	NP_001449.3:p.(Tyr1754=)	NC_000007.13:g.128490092C>T	(Likely) benign	1 lab	b9523c078d
16:920818 LMF1 G>A	16	920818	920818	G	A	LMF1	c.744C>T	NM_001352018.2	NP_001338947.1:p.(Pro248=)	NC_000016.9:g.920818G>A	(Likely) benign	1 lab	b96d9a62ad
6:6062971 MISSING Ref too long to show for this DEL>T	6	6062971	6622919	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.6062975_6622919del	VUS	1 lab	b9548204dd
16:943018 LMF1 A>G	16	943018	943018	A	G	LMF1	c.319T>C	NM_001352018.2	NP_001338947.1:p.(Phe107Leu)	NC_000016.9:g.943018A>G	VUS	1 lab	b954a25642
2:73676547 ALMS1 T>C	2	73676547	73676547	T	C	ALMS1	c.2896T>C	NM_015120.4	NP_055935.4:p.(Tyr966His)	NC_000002.11:g.73676547T>C	(Likely) benign	1 lab	b956267117
8:10467614 RP1L1 G>C	8	10467614	10467614	G	C	RP1L1	c.3994C>G	NM_178857.6	NP_849188.4:p.(Gln1332Glu)	NC_000008.10:g.10467614G>C	(Likely) benign	1 lab	b9575ea3a3
6:100061505 PRDM13 G>A	6	100061505	100061505	G	A	PRDM13	c.994G>A	NM_021620.4	NP_067633.2:p.(Gly332Arg)	NC_000006.11:g.100061505G>A	(Likely) benign	1 lab	b95e21d0d2
15:31358259 TRPM1 G>A	15	31358259	31358259	G	A	TRPM1	c.841+20C>T	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31358259G>A	(Likely) benign	1 lab	b96543709a
9:89817055 MISSING Ref too long to show for this DEL>G	9	89817055	90557944	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.89817056_90557944del	VUS	1 lab	b9670a9f65
16:70731130 VAC14 G>A	16	70731130	70731130	G	A	VAC14	c.1867C>T	NM_018052.5	NP_060522.3:p.(Arg623Cys)	NC_000016.9:g.70731130G>A	(Likely) pathogenic	1 lab	b967a71d47
1:236971998 MTR C>T	1	236971998	236971998	C	T	MTR	c.340-6C>T	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236971998C>T	(Likely) benign	1 lab	b96973ed0a
7:30661040 GARS1 G>A	7	30661040	30661040	G	A	GARS1	c.1391G>A	NM_002047.4	NP_002038.2:p.(Arg464His)	NC_000007.13:g.30661040G>A	VUS	1 lab	b96b105b5e
8:42868466 HOOK3 T>C	8	42868466	42868466	T	C	HOOK3	c.1945-6T>C	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42868466T>C	(Likely) benign	1 lab	b96b47c5b6
8:19796938 LPL G>A	8	19796938	19796938	G	A	LPL	c.-14G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796938G>A	(Likely) benign	1 lab	b96b574e4d
X:70466318 ZMYM3 T>G	X	70466318	70466318	T	G	ZMYM3	c.2421A>C	NM_001171162.1	NP_001164633.1:p.(Pro807=)	NC_000023.10:g.70466318T>G	(Likely) benign	1 lab	b96b662ae2
14:50623696 SOS2 TAA>T	14	50623696	50623702	TAA	T	SOS2	c.2057+19_2057+20del	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50623701_50623702del	(Likely) benign	1 lab	b96db47a0c
11:1017536 MUC6 G>T	11	1017536	1017536	G	T	MUC6	c.5265C>A	NM_005961.3	NP_005952.2:p.(Ser1755=)	NC_000011.9:g.1017536G>T	(Likely) benign	1 lab	b9705fde84
6:16143301 MYLIP A>G	6	16143301	16143301	A	G	MYLIP	c.515A>G	NM_013262.4	NP_037394.2:p.(Glu172Gly)	NC_000006.11:g.16143301A>G	VUS	1 lab	b970e59fd8
7:128493548 FLNC T>TGAA	7	128493548	128493552	T	TGAA	FLNC	c.6236_6238dup	NM_001458.5	NP_001449.3:p.(Glu2079dup)	NC_000007.13:g.128493550_128493552dup	VUS	1 lab	b971b3d00d
19:45452463 APOC2 T>C	19	45452463	45452463	T	C	APOC2	c.263T>C	NM_000483.5	NP_000474.2:p.(Ile88Thr)	NC_000019.9:g.45452463T>C	(Likely) pathogenic	1 lab	b9749da182
2:179407866 TTN C>T	2	179407866	179407866	C	T	TTN	c.96834G>A	NM_001267550.2	NP_001254479.2:p.(Arg32278=)	NC_000002.11:g.179407866C>T	(Likely) benign	1 lab	b975ab53ea
6:106514959 MISSING G>Alt too long to show for this DUP	6	106514959	106813681	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.106514961_106813681dup	VUS	1 lab	b976760656
15:58853363 LIPC C>T	15	58853363	58853363	C	T	LIPC	c.1169+183C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853363C>T	(Likely) benign	1 lab	b979db7302
18:47091849 LIPG T>TC	18	47091849	47091850	T	TC	LIPG	c.261dup	NM_006033.4	NP_006024.1:p.(Ile88HisfsTer12)	NC_000018.9:g.47091850dup	(Likely) pathogenic	1 lab	b97ad979ce
12:58145142 CDK4 C>T	12	58145142	58145142	C	T	CDK4	c.219-17G>A	NM_000075.4	NP_000066.1:p.?	NC_000012.11:g.58145142C>T	(Likely) benign	1 lab	b97bddec68
X:8595819 MISSING G>Alt too long to show for this DUP	X	8595819	8708691	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.8595820_8708691dup	VUS	1 lab	b97c5e539b
16:3900914 CREBBP G>GTTAAACCTT	16	3900914	3900915	G	GTTAAACCTT	CREBBP	c.181_182insAAGGTTTAA	NM_004380.3	NP_004371.2:p.(Pro61delinsGlnGlyLeuThr)	NC_000016.9:g.3900914_3900915insTTAAACCTT	(Likely) pathogenic	1 lab	b97cd3f559
11:68153810 LRP5 C>T	11	68153810	68153810	C	T	LRP5	c.1042C>T	NM_002335.4	NP_002326.2:p.(Arg348Trp)	NC_000011.9:g.68153810C>T	(Likely) pathogenic	1 lab	b97eca7c45
X:154118640 MISSING A>Alt too long to show for this DUP	X	154118640	154577853	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154118644_154577853dup	VUS	1 lab	b98164f539
2:189910594 COL5A2 A>G	2	189910594	189910594	A	G	COL5A2	c.3241T>C	NM_000393.5	NP_000384.2:p.(Ser1081Pro)	NC_000002.11:g.189910594A>G	VUS	1 lab	b983157190
9:107568553 ABCA1 G>T	9	107568553	107568553	G	T	ABCA1	c.4433C>A	NM_005502.4	NP_005493.2:p.(Pro1478His)	NC_000009.11:g.107568553G>T	VUS	1 lab	b984304f32
9:139390152 NOTCH1 T>C	9	139390152	139390152	T	C	NOTCH1	c.*371A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139390152T>C	VUS	1 lab	b987b0458d
12:50501513 GPD1 C>G	12	50501513	50501513	C	G	GPD1	c.776C>G	NM_005276.4	NP_005267.2:p.(Ala259Gly)	NC_000012.11:g.50501513C>G	VUS	1 lab	b989a58dce
22:48364490 MISSING Ref too long to show for this DEL>C	22	48364490	50241212	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.48364493_50241212del	(Likely) pathogenic	1 lab	b98bfa551f
10:116057000 AFAP1L2 G>A	10	116057000	116057000	G	A	AFAP1L2	c.2445C>T	NM_001287824.2	NP_001274753.1:p.(His815=)	NC_000010.10:g.116057000G>A	(Likely) benign	1 lab	b98db6a49a
17:41222946 BRCA1 A>G	17	41222946	41222946	A	G	BRCA1	c.4985T>C	NM_007294.4	NP_009225.1:p.(Phe1662Ser)	NC_000017.10:g.41222946A>G	(Likely) benign	1 lab	b98e98654a
X:47061738 UBA1 A>C	X	47061738	47061738	A	C	UBA1	c.910-19A>C	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47061738A>C	(Likely) benign	1 lab	b9b69bfe33
6:3124340 MISSING Ref too long to show for this DEL>C	6	3124340	3255258	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.3124341_3255258del	VUS	1 lab	b99089bbf7
21:47551890 COL6A2 G>A	21	47551890	47551890	G	A	COL6A2	c.2484G>A	NM_001849.4	NP_001840.3:p.(Thr828=)	NC_000021.8:g.47551890G>A	(Likely) benign	1 lab	b992d3d740
3:186459998 KNG1 G>C	3	186459998	186459998	G	C	KNG1	c.1813G>C	NM_001102416.3	NP_001095886.1:p.(Asp605His)	NC_000003.11:g.186459998G>C	VUS	1 lab	b995dc6f8b
11:116661777 APOA5 C>G	11	116661777	116661777	C	G	APOA5	c.168G>C	NM_052968.5	NP_443200.2:p.(Leu56=)	NC_000011.9:g.116661777C>G	(Likely) benign	1 lab	b9981deea0
9:125618163 RC3H2 T>TA	9	125618163	125618172	T	TA	RC3H2	c.2455-7dup	NM_001100588.3	NP_001094058.1:p.?	NC_000009.11:g.125618172dup	(Likely) benign	1 lab	b9992ae910
18:47110264 LIPG A>T	18	47110264	47110264	A	T	LIPG	c.1376+120A>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47110264A>T	(Likely) benign	1 lab	b99a5fbcb4
20:49551768 DPM1 T>C	20	49551768	49551768	T	C	DPM1	c.684A>G	NM_003859.3	NP_003850.1:p.(Pro228=)	NC_000020.10:g.49551768T>C	(Likely) benign	1 lab	b99ab18600
1:16909061 NBPF1 T>G	1	16909061	16909061	T	G	NBPF1	c.1284A>C	NM_017940.6	NP_060410.3:p.(Gln428His)	NC_000001.10:g.16909061T>G	(Likely) benign	1 lab	b99bb5155e
5:127713368 FBN2 T>C	5	127713368	127713368	T	C	FBN2	c.1849+77A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127713368T>C	(Likely) benign	1 lab	b99d8d2996
7:151432998 PRKAG2 G>A	7	151432998	151432998	G	A	PRKAG2	c.82C>T	NM_001304527.2	NP_001291456.1:p.(His28Tyr)	NC_000007.13:g.151432998G>A	VUS	1 lab	b99f1329a2
12:6747534 ACRBP T>Alt too long to show for this DUP	12	6747534	6755723	T	Alt too long to show for this DUP	ACRBP	c.284_1545dup	NM_032489.3	NP_115878.2:p.(Ser516LeufsTer44)	NC_000012.11:g.6747536_6755723dup	VUS	1 lab	b9a1c56e37
9:12694064 TYRP1 G>T	9	12694064	12694064	G	T	TYRP1	c.68G>T	NM_000550.3	NP_000541.1:p.(Arg23Leu)	NC_000009.11:g.12694064G>T	VUS	1 lab	b9a28efb08
5:45695972 HCN1 TCGC>T	5	45695972	45695994	TCGC	T	HCN1	c.221_223del	NM_021072.4	NP_066550.2:p.(Gly74del)	NC_000005.9:g.45695992_45695994del	(Likely) benign	1 lab	b9a28f5d8f
2:21239886 APOB T>C	2	21239886	21239886	T	C	APOB	c.3122-365A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239886T>C	(Likely) benign	1 lab	b9a3b8c320
2:179442168 TTN A>G	2	179442168	179442168	A	G	TTN	c.68894T>C	NM_001267550.2	NP_001254479.2:p.(Val22965Ala)	NC_000002.11:g.179442168A>G	VUS	1 lab	b9a3eb829b
17:33428338 RAD51D G>A	17	33428338	33428338	G	A	RAD51D	c.785C>T	NM_002878.4	NP_002869.3:p.(Pro262Leu)	NC_000017.10:g.33428338G>A	VUS	1 lab	b9a69afbe3
9:113169631 SVEP1 G>A	9	113169631	113169631	G	A	SVEP1	c.8249C>T	NM_153366.4	NP_699197.3:p.(Ala2750Val)	NC_000009.11:g.113169631G>A	(Likely) benign	1 lab	b9a8f811c2
9:137698124 COL5A1 AGGAGAGAAAGG>A	9	137698124	137698137	AGGAGAGAAAGG	A	COL5A1	c.3351_3361del	NM_000093.5	NP_000084.3:p.(Glu1118SerfsTer37)	NC_000009.11:g.137698127_137698137del	(Likely) pathogenic	1 lab	b9aacb25bd
6:16143441 MYLIP A>G	6	16143441	16143441	A	G	MYLIP	c.655A>G	NM_013262.4	NP_037394.2:p.(Ile219Val)	NC_000006.11:g.16143441A>G	VUS	1 lab	b9ae8e0ad5
11:47355853 MYBPC3 C>T	11	47355853	47355853	C	T	MYBPC3	c.2906-292G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355853C>T	(Likely) benign	1 lab	b9af96d476
22:46786315 CELSR1 T>C	22	46786315	46786315	T	C	CELSR1	c.6319A>G	NM_001378328.1	NP_001365257.1:p.(Ile2107Val)	NC_000022.10:g.46786315T>C	(Likely) benign	1 lab	b9b0336f0e
1:860069 SAMD11 C>T	1	860069	860069	C	T	SAMD11	c.258C>T	NM_001385640.1	NP_001372569.1:p.(Pro86=)	NC_000001.10:g.860069C>T	(Likely) benign	1 lab	b9b50d33b7
16:2154478 PKD1 A>G	16	2154478	2154478	A	G	PKD1	c.8161+21T>C	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2154478A>G	(Likely) benign	1 lab	b9b8475215
X:55172606 VCF2 G>A	X	55172606	55172606	G	A	VCF2	c.256C>T	NM_001166703.2	NP_001160175.1:p.(Pro86Ser)	NC_000023.10:g.55172606G>A	(Likely) benign	1 lab	b9b9520ae7
3:32181749 GPD1L G>A	3	32181749	32181749	G	A	GPD1L	c.396G>A	NM_015141.4	NP_055956.1:p.(Lys132=)	NC_000003.11:g.32181749G>A	(Likely) benign	1 lab	b9bd2ff386
5:179260758 SQSTM1 G>A	5	179260758	179260758	G	A	SQSTM1	c.1141G>A	NM_003900.5	NP_003891.1:p.(Ala381Thr)	NC_000005.9:g.179260758G>A	(Likely) benign	1 lab	b9c6721d36
15:52689585 MYO5A G>A	15	52689585	52689585	G	A	MYO5A	c.1132C>T	NM_000259.3	NP_000250.3:p.(Arg378Trp)	NC_000015.9:g.52689585G>A	VUS	1 lab	b9ca2bbca7
2:47403685 CALM2 A>G	2	47403685	47403685	A	G	CALM2	c.-5T>C	NM_001305624.1	NP_001292553.1:p.?	NC_000002.11:g.47403685A>G	VUS	1 lab	b9cacd761c
18:19371415 MIB1 C>T	18	19371415	19371415	C	T	MIB1	c.989C>T	NM_020774.4	NP_065825.1:p.(Thr330Ile)	NC_000018.9:g.19371415C>T	VUS	1 lab	b9cd95efd3
1:216219760 USH2A C>T	1	216219760	216219760	C	T	USH2A	c.6325+13G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216219760C>T	(Likely) benign	1 lab	b9d2862421
2:150243746 LYPD6 Ref too long to show for this DEL>G	2	150243746	150296499	Ref too long to show for this DEL	G	LYPD6	c.-71-50405_118+2159del	NM_194317.5	NP_919298.1:p.?	NC_000002.11:g.150243747_150296499del	VUS	1 lab	b9d32853a7
2:44051210 ABCG5 C>T	2	44051210	44051210	C	T	ABCG5	c.1166G>A	NM_022436.3	NP_071881.1:p.(Arg389His)	NC_000002.11:g.44051210C>T	(Likely) pathogenic	1 lab	b9d8ce47a4
7:94056983 COL1A2 C>T	7	94056983	94056983	C	T	COL1A2	c.3312C>T	NM_000089.4	NP_000080.2:p.(Ser1104=)	NC_000007.13:g.94056983C>T	VUS	1 lab	b9d99fcf1b
X:54491939 FGD1 G>Alt too long to show for this DUP	X	54491939	54498755	G	Alt too long to show for this DUP	FGD1	c.308-835_1580dup	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54491940_54498755dup	VUS	1 lab	b9dc7686e0
19:11216210 LDLR A>C	19	11216210	11216210	A	C	LDLR	c.628A>C	NM_000527.5	NP_000518.1:p.(Ile210Leu)	NC_000019.9:g.11216210A>C	VUS	1 lab	b9e01ab2c4
2:219678839 CYP27A1 C>T	2	219678839	219678839	C	T	CYP27A1	c.1113C>T	NM_000784.4	NP_000775.1:p.(Ala371=)	NC_000002.11:g.219678839C>T	(Likely) benign	1 lab	b9e0798dcc
14:77746365 POMT2 G>A	14	77746365	77746365	G	A	POMT2	c.1784C>T	NM_013382.7	NP_037514.2:p.(Pro595Leu)	NC_000014.8:g.77746365G>A	VUS	1 lab	b9e18daf03
11:2591850 KCNQ1 C>T	11	2591850	2591850	C	T	KCNQ1	c.478-8C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2591850C>T	(Likely) benign	1 lab	b9e3de7a9c
10:117530350 MISSING G>Alt too long to show for this DUP	10	117530350	117976663	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.117530351_117976663dup	VUS	1 lab	b9e44cf1cc
1:161276544 MPZ G>T	1	161276544	161276544	G	T	MPZ	c.402C>A	NM_000530.8	NP_000521.2:p.(Asp134Glu)	NC_000001.10:g.161276544G>T	(Likely) pathogenic	1 lab	b9f14a614e
12:50500125 GPD1 C>T	12	50500125	50500125	C	T	GPD1	c.415C>T	NM_005276.4	NP_005267.2:p.(Arg139Cys)	NC_000012.11:g.50500125C>T	VUS	1 lab	b9f1839347
2:44079772 ABCG8 C>T	2	44079772	44079772	C	T	ABCG8	c.729C>T	NM_022437.3	NP_071882.1:p.(Leu243=)	NC_000002.11:g.44079772C>T	(Likely) benign	1 lab	b9f59caa79
X:70443672 GJB1 G>C	X	70443672	70443672	G	C	GJB1	c.115G>C	NM_000166.6	NP_000157.1:p.(Ala39Pro)	NC_000023.10:g.70443672G>C	(Likely) pathogenic	1 lab	b9f7bd2253
18:34261551 FHOD3 AT>A	18	34261551	34261559	AT	A	FHOD3	c.1970+26del	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34261559del	(Likely) benign	1 lab	b9f7f7642c
14:90808680 MISSING Ref too long to show for this DEL>T	14	90808680	92054331	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.90808683_92054331del	(Likely) pathogenic	1 lab	b9f942bfcd
8:19796881 LPL C>G	8	19796881	19796881	C	G	LPL	c.-71C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796881C>G	VUS	1 lab	b9f9cdec34
X:70443736 GJB1 G>T	X	70443736	70443736	G	T	GJB1	c.179G>T	NM_000166.6	NP_000157.1:p.(Cys60Phe)	NC_000023.10:g.70443736G>T	(Likely) pathogenic	1 lab	b9fe600ea1
6:32025980 TNXB G>A	6	32025980	32025980	G	A	TNXB	c.7680C>T	NM_019105.8	NP_061978.6:p.(Asp2560=)	NC_000006.11:g.32025980G>A	(Likely) benign	1 lab	ba0541c0b3
15:44944332 SPG11 A>T	15	44944332	44944332	A	T	SPG11	c.1002T>A	NM_025137.4	NP_079413.3:p.(Ile334=)	NC_000015.9:g.44944332A>T	(Likely) benign	1 lab	ba0bde5cab
1:27100208 ARID1A G>A	1	27100208	27100208	G	A	ARID1A	c.4004G>A	NM_006015.6	NP_006006.3:p.(Arg1335Gln)	NC_000001.10:g.27100208G>A	VUS	1 lab	ba0fae37a0
3:85470775 CADM2 Ref too long to show for this DEL>A	3	85470775	85528038	Ref too long to show for this DEL	A	CADM2	c.62-304895_62-247634del	NM_001167675.2	NP_001161147.1:p.?	NC_000003.11:g.85470777_85528038del	VUS	1 lab	ba1178afd5
2:179419493 TTN G>A	2	179419493	179419493	G	A	TTN	c.88595-14C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179419493G>A	(Likely) benign	1 lab	ba1266ade0
3:38640480 SCN5A T>A	3	38640480	38640480	T	A	SCN5A	c.1952A>T	NM_198056.3	NP_932173.1:p.(Asp651Val)	NC_000003.11:g.38640480T>A	VUS	1 lab	ba147f2032
1:16893753 NBPF1 C>T	1	16893753	16893753	C	T	NBPF1	c.2760G>A	NM_017940.6	NP_060410.3:p.(Leu920=)	NC_000001.10:g.16893753C>T	(Likely) benign	1 lab	ba158c1f75
2:179472494 TTN T>C	2	179472494	179472494	T	C	TTN	c.53002+18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472494T>C	(Likely) benign	1 lab	ba16a0d26c
7:86556236 ELAPOR2 C>A	7	86556236	86556236	C	A	ELAPOR2	c.1090-4G>T	NM_001142749.3	NP_001136221.1:p.?	NC_000007.13:g.86556236C>A	(Likely) benign	1 lab	ba17074250
3:97868749 OR5H14 A>G	3	97868749	97868749	A	G	OR5H14	c.520A>G	NM_001005514.2	NP_001005514.1:p.(Ile174Val)	NC_000003.11:g.97868749A>G	(Likely) benign	1 lab	ba174ebae9
16:23568663 EARS2 A>T	16	23568663	23568663	A	T	EARS2				NC_000016.9:g.23568663A>T	(Likely) pathogenic	1 lab	ba19d39693
9:107602638 ABCA1 CA>C	9	107602638	107602639	CA	C	ABCA1	c.975del	NM_005502.4	NP_005493.2:p.(Tyr325Ter)	NC_000009.11:g.107602639del	(Likely) pathogenic	1 lab	ba1a9db982
2:21229370 APOB G>C	2	21229370	21229370	G	C	APOB	c.10370C>G	NM_000384.3	NP_000375.3:p.(Ser3457Cys)	NC_000002.11:g.21229370G>C	VUS	1 lab	ba1f5fbe1d
4:9250376 USP17L18 C>G	4	9250376	9250376	C	G	USP17L18	c.21C>G	NM_001256859.1	NP_001243788.1:p.(Tyr7Ter)	NC_000004.11:g.9250376C>G	(Likely) benign	1 lab	ba2d38c70b
17:80406809 MISSING Ref too long to show for this DEL>A	17	80406809	80461077	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.80406811_80461077del	VUS	1 lab	ba2d589b09
1:1747188 GNB1 C>T	1	1747188	1747188	C	T	GNB1	c.203+7G>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1747188C>T	(Likely) benign	1 lab	ba2dcf69a2
9:98640196 ERCC6L2 Ref too long to show for this DEL>T	9	98640196	98719828	Ref too long to show for this DEL	T	ERCC6L2	c.46+1831_1947+1533del	NM_020207.7	NP_064592.3:p.?	NC_000009.11:g.98640197_98719828del	VUS	1 lab	ba2f4f4d40
15:58830707 LIPC C>T	15	58830707	58830707	C	T	LIPC	c.264C>T	NM_000236.3	NP_000227.2:p.(His88=)	NC_000015.9:g.58830707C>T	(Likely) benign	1 lab	ba2ffd1c9f
2:110922176 NPHP1 T>C	2	110922176	110922176	T	C	NPHP1	c.860A>G	NM_000272.5	NP_000263.2:p.(Asn287Ser)	NC_000002.11:g.110922176T>C	(Likely) benign	1 lab	ba34bdc19e
8:59404220 CYP7A1 T>C	8	59404220	59404220	T	C	CYP7A1	c.1329A>G	NM_000780.4	NP_000771.2:p.(Ile443Met)	NC_000008.10:g.59404220T>C	VUS	1 lab	ba6748884b
9:107562282 ABCA1 A>T	9	107562282	107562282	A	T	ABCA1	c.4774-13T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562282A>T	(Likely) pathogenic	1 lab	ba3687f7b7
1:26135560 SELENON T>C	1	26135560	26135560	T	C	SELENON	c.791T>C	NM_020451.3	NP_065184.2:p.(Phe264Ser)	NC_000001.10:g.26135560T>C	VUS	1 lab	ba3d0faf6c
13:19772785 MISSING Ref too long to show for this DEL>T	13	19772785	19843230	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.19772786_19843230del	VUS	1 lab	ba40d83212
2:44051187 ABCG5 C>T	2	44051187	44051187	C	T	ABCG5	c.1189G>A	NM_022436.3	NP_071881.1:p.(Gly397Ser)	NC_000002.11:g.44051187C>T	VUS	1 lab	ba416dbe25
4:114286357 ANK2 ATGTGTG>A	4	114286357	114286388	ATGTGTG	A	ANK2	c.11032+45_11032+50del	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286383_114286388del	(Likely) benign	1 lab	ba4894c617
3:50382964 ZMYND10 A>C	3	50382964	50382964	A	C	ZMYND10	c.47T>G	NM_015896.4	NP_056980.2:p.(Val16Gly)	NC_000003.11:g.50382964A>C	(Likely) pathogenic	1 lab	ba4af2fd77
7:154672601 DPP6 G>A	7	154672601	154672601	G	A	DPP6	c.2082G>A	NM_130797.4	NP_570629.2:p.(Thr694=)	NC_000007.13:g.154672601G>A	(Likely) benign	1 lab	ba4ecc1185
18:2750444 SMCHD1 C>T	18	2750444	2750444	C	T	SMCHD1	c.4104C>T	NM_015295.3	NP_056110.2:p.(Pro1368=)	NC_000018.9:g.2750444C>T	(Likely) benign	1 lab	ba5142cd78
10:100190998 HPS1 C>T	10	100190998	100190998	C	T	HPS1	c.558G>A	NM_000195.5	NP_000186.2:p.(Ala186=)	NC_000010.10:g.100190998C>T	(Likely) benign	1 lab	ba528bec6e
1:156127848 SEMA4A TCCCCA>T	1	156127848	156127854	TCCCCA	T	SEMA4A	c.301-11_301-7del	NM_022367.4	NP_071762.2:p.?	NC_000001.10:g.156127850_156127854del	(Likely) benign	1 lab	ba545850f6
7:153446021 DPP6 A>G	7	153446021	153446021	A	G	DPP6	c.-13A>G	NM_001364500.2	NP_001351429.1:p.?	NC_000007.13:g.153446021A>G	(Likely) benign	1 lab	ba5952a668
15:59154530 MISSING A>Alt too long to show for this DUP	15	59154530	59199937	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.59154531_59199937dup	VUS	1 lab	ba5b9f94c6
11:47357124 MYBPC3 C>T	11	47357124	47357124	C	T	MYBPC3	c.2737+304G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357124C>T	(Likely) benign	1 lab	ba5ff8975b
11:75501747 DGAT2 C>G	11	75501747	75501747	C	G	DGAT2	c.400C>G	NM_032564.5	NP_115953.2:p.(Arg134Gly)	NC_000011.9:g.75501747C>G	VUS	1 lab	ba639bf06c
15:34551062 SLC12A6 T>G	15	34551062	34551062	T	G	SLC12A6	c.468A>C	NM_001042496.2	NP_001035961.1:p.(Glu156Asp)	NC_000015.9:g.34551062T>G	VUS	1 lab	ba6b831627
7:94040548 COL1A2 A>G	7	94040548	94040548	A	G	COL1A2	c.1350+82A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040548A>G	(Likely) benign	1 lab	ba6c37a1d3
6:64498933 EYS G>A	6	64498933	64498933	G	A	EYS	c.7578+18C>T	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64498933G>A	(Likely) benign	1 lab	ba74772ab9
9:107561675 ABCA1 T>TCACACACACA	9	107561675	107561717	T	TCACACACACA	ABCA1	c.4943+415_4943+424dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561708_107561717dup	(Likely) benign	1 lab	ba77b82697
1:216172419 USH2A A>T	1	216172419	216172419	A	T	USH2A	c.6486-19T>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216172419A>T	(Likely) benign	1 lab	ba78f2c426
15:58853084 LIPC TC>T	15	58853084	58853086	TC	T	LIPC	c.1075del	NM_000236.3	NP_000227.2:p.(Gln359SerfsTer55)	NC_000015.9:g.58853086del	VUS	1 lab	ba796c829f
X:70443811 GJB1 C>T	X	70443811	70443811	C	T	GJB1	c.254C>T	NM_000166.6	NP_000157.1:p.(Ser85Phe)	NC_000023.10:g.70443811C>T	(Likely) pathogenic	1 lab	ba79e1e3bc
10:83765142 NRG3 Ref too long to show for this DEL>G	10	83765142	83878806	Ref too long to show for this DEL	G	NRG3	c.823+129224_824-239689del	NM_001010848.4	NP_001010848.2:p.?	NC_000010.10:g.83765143_83878806del	VUS	1 lab	ba79f6dcd5
17:57334490 GDPD1 G>A	17	57334490	57334490	G	A	GDPD1	c.375G>A	NM_182569.4	NP_872375.2:p.(Gln125=)	NC_000017.10:g.57334490G>A	(Likely) benign	1 lab	ba7b58e6a8
12:57884129 MARS1 C>T	12	57884129	57884129	C	T	MARS1	c.630C>T	NM_004990.4	NP_004981.2:p.(Pro210=)	NC_000012.11:g.57884129C>T	(Likely) benign	1 lab	ba7c65f3ea
12:125294844 SCARB1 A>G	12	125294844	125294844	A	G	SCARB1	c.727-9T>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125294844A>G	(Likely) benign	1 lab	ba9e2f8047
3:10926565 MISSING T>Alt too long to show for this DUP	3	10926565	11023254	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.10926568_11023254dup	VUS	1 lab	ba7f7702ba
11:822522 PNPLA2 G>GC	11	822522	822523	G	GC	PNPLA2	c.613dup	NM_020376.4	NP_065109.1:p.(Leu205ProfsTer102)	NC_000011.9:g.822523dup	(Likely) pathogenic	1 lab	ba804d91e8
10:13325853 PHYH C>T	10	13325853	13325853	C	T	PHYH	c.379-14G>A	NM_001037537.2	NP_001032626.1:p.?	NC_000010.10:g.13325853C>T	(Likely) benign	1 lab	ba8143a0c5
6:75835088 COL12A1 C>T	6	75835088	75835088	C	T	COL12A1	c.6461-99G>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75835088C>T	(Likely) benign	1 lab	ba8a3b5a02
7:30671128 GARS1 A>G	7	30671128	30671128	A	G	GARS1	c.1712A>G	NM_001316772.1	NP_001303701.1:p.(Gln571Arg)	NC_000007.13:g.30671128A>G	VUS	1 lab	ba8aeaeac6
9:107547230 ABCA1 C>T	9	107547230	107547230	C	T	ABCA1	c.6645+447G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547230C>T	(Likely) benign	1 lab	ba8b4bc498
X:151893731 MISSING A>Alt too long to show for this DUP	X	151893731	151911686	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151893733_151911686dup	VUS	1 lab	ba8f217799
2:48679497 MISSING T>Alt too long to show for this DUP	2	48679497	48909306	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.48679499_48909306dup	VUS	1 lab	ba9017090c
2:179613344 TTN T>G	2	179613344	179613344	T	G	TTN	c.13783A>C	NM_133379.5	NP_596870.2:p.(Ser4595Arg)	NC_000002.11:g.179613344T>G	VUS	1 lab	ba93c6dc02
4:121774556 PRDM5 G>A	4	121774556	121774556	G	A	PRDM5	c.300+17C>T	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121774556G>A	(Likely) benign	1 lab	ba93e08e52
1:94327692 MISSING Ref too long to show for this DEL>G	1	94327692	94342593	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.94327693_94342593del	VUS	1 lab	ba9c98c5ba
1:161192845 APOA2 CCACACACACA>C	1	161192845	161192884	CCACACACACA	C	APOA2	c.53-15_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192875_161192884del	(Likely) benign	1 lab	baa2c3440a
6:56569104 DST A>G	6	56569104	56569104	A	G	DST	c.751T>C	NM_001144769.5	NP_001138241.1:p.(Leu251=)	NC_000006.11:g.56569104A>G	(Likely) benign	1 lab	baa43f8bb6
12:33049966 PKP2 C>G	12	33049966	33049966	C	G	PKP2				NC_000012.11:g.33049966C>G	(Likely) benign	1 lab	baa54371d6
7:81746451 CACNA2D1 T>C	7	81746451	81746451	T	C	CACNA2D1	c.435A>G	NM_000722.4	NP_000713.2:p.(Ile145Met)	NC_000007.13:g.81746451T>C	VUS	1 lab	baa5476d57
18:29710751 MISSING A>Alt too long to show for this DUP	18	29710751	29800323	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.29710753_29800323dup	VUS	1 lab	baa9334beb
16:67977836 LCAT C>G	16	67977836	67977836	C	G	LCAT	c.154+15G>C	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977836C>G	(Likely) benign	1 lab	baaad3e9e0
16:88497178 ZNF469 G>A	16	88497178	88497178	G	A	ZNF469	c.3300G>A	NM_001367624.2	NP_001354553.1:p.(Glu1100=)	NC_000016.9:g.88497178G>A	(Likely) benign	1 lab	baafee2adf
12:49375088 WNT1 A>C	12	49375088	49375088	A	C	WNT1	c.778A>C	NM_005430.4	NP_005421.1:p.(Asn260His)	NC_000012.11:g.49375088A>C	VUS	1 lab	bab06b9ea7
11:47370510 MYBPC3 C>T	11	47370510	47370510	C	T	MYBPC3	c.655-418G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370510C>T	(Likely) benign	1 lab	bab24e2e1d
16:920739 LMF1 C>A	16	920739	920739	C	A	LMF1	c.823G>T	NM_001352018.2	NP_001338947.1:p.(Ala275Ser)	NC_000016.9:g.920739C>A	VUS	1 lab	bab3d32d05
11:1016984 MUC6 G>A	11	1016984	1016984	G	A	MUC6	c.5817C>T	NM_005961.3	NP_005952.2:p.(Thr1939=)	NC_000011.9:g.1016984G>A	(Likely) benign	1 lab	bab4462515
2:207012277 NDUFS1 T>C	2	207012277	207012277	T	C	NDUFS1	c.529A>G	NM_005006.7	NP_004997.4:p.(Ile177Val)	NC_000002.11:g.207012277T>C	VUS	1 lab	bab60123da
2:21230365 APOB G>A	2	21230365	21230365	G	A	APOB	c.9375C>T	NM_000384.3	NP_000375.3:p.(Phe3125=)	NC_000002.11:g.21230365G>A	(Likely) benign	1 lab	bab7947035
5:37167326 CPLANE1 GAAAC>G	5	37167326	37167333	GAAAC	G	CPLANE1	c.7234-15_7234-12del	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37167330_37167333del	(Likely) benign	1 lab	babdb49b47
11:47361783 MYBPC3 CACACAG>C	11	47361783	47361800	CACACAG	C	MYBPC3	c.1928-448_1928-443del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361795_47361800del	(Likely) benign	1 lab	bac1111839
10:55587197 PCDH15 A>AGGCGGC	10	55587197	55587214	A	AGGCGGC	PCDH15	c.4317_4322dup	NM_001384140.1	NP_001371069.1:p.(Pro1442_Pro1443dup)	NC_000010.10:g.55587209_55587214dup	(Likely) benign	1 lab	bac5a20a4c
5:178418856 GRM6 C>A	5	178418856	178418856	C	A	GRM6	c.721+12G>T	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178418856C>A	(Likely) benign	1 lab	bac7264e4f
17:4923325 KIF1C GAC>G	17	4923325	4923328	GAC	G	KIF1C	c.1703_1704del	NM_006612.6	NP_006603.2:p.(Thr568IlefsTer18)	NC_000017.10:g.4923327_4923328del	(Likely) pathogenic	1 lab	bac9cc6bfd
19:11223987 LDLR A>C	19	11223987	11223987	A	C	LDLR	c.1220A>C	NM_000527.5	NP_000518.1:p.(His407Pro)	NC_000019.9:g.11223987A>C	VUS	1 lab	baca4394d4
X:70443669 GJB1 G>A	X	70443669	70443669	G	A	GJB1	c.112G>A	NM_000166.6	NP_000157.1:p.(Val38Met)	NC_000023.10:g.70443669G>A	(Likely) pathogenic	1 lab	bacd103605
21:35821619 KCNE1 G>A	21	35821619	35821619	G	A	KCNE1	c.314C>T	NM_000219.6	NP_000210.2:p.(Ser105Leu)	NC_000021.8:g.35821619G>A	VUS	1 lab	bb05ef6c13
6:170847254 PSMB1 GTTTGTTACAAAGAACACAGGTGATTCTACAATCGTTAAAAAGGCCTGTTAAAAACAACCGT>G	6	170847254	170847315	GTTTGTTACAAAGAACACAGGTGATTCTACAATCGTTAAAAAGGCCTGTTAAAAACAACCGT	G	PSMB1	c.434-887_434-827del	NM_002793.4	NP_002784.1:p.?	NC_000006.11:g.170847255_170847315del	(Likely) pathogenic	1 lab	bacdb4f0bf
2:219677331 CYP27A1 G>A	2	219677331	219677331	G	A	CYP27A1	c.703G>A	NM_000784.4	NP_000775.1:p.(Glu235Lys)	NC_000002.11:g.219677331G>A	VUS	1 lab	bacee6d1d8
1:237868634 RYR2 G>C	1	237868634	237868634	G	C	RYR2	c.9571G>C	NM_001035.3	NP_001026.2:p.(Glu3191Gln)	NC_000001.10:g.237868634G>C	VUS	1 lab	bad001c44a
2:179616073 TTN C>T	2	179616073	179616073	C	T	TTN	c.11054G>A	NM_133379.5	NP_596870.2:p.(Gly3685Asp)	NC_000002.11:g.179616073C>T	VUS	1 lab	bad16d3411
6:123637602 TRDN C>T	6	123637602	123637602	C	T	TRDN	c.1510G>A	NM_006073.4	NP_006064.2:p.(Gly504Ser)	NC_000006.11:g.123637602C>T	(Likely) benign	1 lab	bad1847bb0
14:23865943 MYH6 AGAGAGCT>A	14	23865943	23865953	AGAGAGCT	A	MYH6	c.2245_2251del	NM_002471.4	NP_002462.2:p.(Ser749TrpfsTer33)	NC_000014.8:g.23865947_23865953del	(Likely) benign	1 lab	bad1dbbd3b
12:76740217 BBS10 T>A	12	76740217	76740217	T	A	BBS10	c.1548A>T	NM_024685.4	NP_078961.3:p.(Thr516=)	NC_000012.11:g.76740217T>A	(Likely) benign	1 lab	bad23cfa43
8:133898964 TG CT>C	8	133898964	133898965	CT	C	TG	c.1348del	NM_003235.5	NP_003226.4:p.(Ser450ProfsTer29)	NC_000008.10:g.133898965del	(Likely) pathogenic	1 lab	bad53fb2d3
9:107548032 ABCA1 C>T	9	107548032	107548032	C	T	ABCA1	c.6402-112G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548032C>T	(Likely) benign	1 lab	bada070879
17:14095348 COX10 G>A	17	14095348	14095348	G	A	COX10	c.738G>A	NM_001303.4	NP_001294.2:p.(Pro246=)	NC_000017.10:g.14095348G>A	(Likely) benign	1 lab	bada27dc8b
19:17994642 SLC5A5 G>T	19	17994642	17994642	G	T	SLC5A5	c.1330-17G>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17994642G>T	(Likely) benign	1 lab	bb7d073bcb
9:117165599 WHRN C>T	9	117165599	117165599	C	T	WHRN	c.2439G>A	NM_015404.4	NP_056219.3:p.(Thr813=)	NC_000009.11:g.117165599C>T	(Likely) benign	1 lab	bae0a66e77
15:62172907 VPS13C T>C	15	62172907	62172907	T	C	VPS13C	c.9903A>G	NM_001018088.3	NP_001018098.1:p.(Gln3301=)	NC_000015.9:g.62172907T>C	(Likely) benign	1 lab	bae1875850
9:103055182 INVS T>C	9	103055182	103055182	T	C	INVS	c.2643T>C	NM_014425.5	NP_055240.2:p.(Pro881=)	NC_000009.11:g.103055182T>C	(Likely) benign	1 lab	baeaaf47b0
3:195452018 MUC20 A>G	3	195452018	195452018	A	G	MUC20	c.544A>G	NM_001282506.2	NP_001269435.1:p.(Ser182Gly)	NC_000003.11:g.195452018A>G	(Likely) benign	1 lab	baecaff9eb
11:120598384 GRIK4 A>Alt too long to show for this DUP	11	120598384	120659028	A	Alt too long to show for this DUP	GRIK4	c.82+67276_83-14374dup	NM_014619.5	NP_055434.2:p.?	NC_000011.9:g.120598385_120659028dup	VUS	1 lab	baeda436c0
11:108164209 ATM TA>T	11	108164209	108164214	TA	T	ATM	c.4776+10del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108164214del	(Likely) benign	1 lab	baef053b08
6:110083418 FIG4 T>A	6	110083418	110083418	T	A	FIG4	c.1388+8T>A	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110083418T>A	VUS	1 lab	baef3d940f
3:14183251 TMEM43 A>G	3	14183251	14183251	A	G	TMEM43	c.1159A>G	NM_024334.3	NP_077310.1:p.(Ile387Val)	NC_000003.11:g.14183251A>G	VUS	1 lab	baef5a4321
16:2115497 TSC2 A>AAG	16	2115497	2115499	A	AAG	TSC2	c.1600-22_1600-21dup	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2115498_2115499dup	(Likely) benign	1 lab	baf2084eae
2:21230412 APOB T>C	2	21230412	21230412	T	C	APOB	c.9328A>G	NM_000384.3	NP_000375.3:p.(Ile3110Val)	NC_000002.11:g.21230412T>C	VUS	1 lab	baf93dba4d
17:79495866 FSCN2 G>A	17	79495866	79495866	G	A	FSCN2	c.309G>A	NM_001077182.3	NP_001070650.1:p.(Arg103=)	NC_000017.10:g.79495866G>A	(Likely) benign	1 lab	bafaecd9c5
12:21370045 SLCO1B1 C>A	12	21370045	21370045	C	A	SLCO1B1	c.1498-8C>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370045C>A	(Likely) benign	1 lab	bafd04b388
7:128038461 IMPDH1 G>A	7	128038461	128038461	G	A	IMPDH1	c.1074+7C>T	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128038461G>A	(Likely) benign	1 lab	bafe94cb5e
9:137583202 COL5A1 T>A	9	137583202	137583202	T	A	COL5A1	c.277+277T>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137583202T>A	(Likely) benign	1 lab	bafe99e049
13:50115000 RCBTB1 T>C	13	50115000	50115000	T	C	RCBTB1	c.*3A>G	NM_001352504.2	NP_001339433.1:p.?	NC_000013.10:g.50115000T>C	(Likely) benign	1 lab	baffd62038
14:64494278 SYNE2 C>T	14	64494278	64494278	C	T	SYNE2	c.6481C>T	NM_182914.3	NP_878918.2:p.(Leu2161=)	NC_000014.8:g.64494278C>T	(Likely) benign	1 lab	baffe6433c
2:179411788 TTN A>G	2	179411788	179411788	A	G	TTN	c.94464T>C	NM_001267550.2	NP_001254479.2:p.(Ala31488=)	NC_000002.11:g.179411788A>G	(Likely) benign	1 lab	bb006efa40
10:26991045 PDSS1 T>C	10	26991045	26991045	T	C	PDSS1	c.-464-46T>C	NM_001321979.2	NP_001308908.1:p.?	NC_000010.10:g.26991045T>C	(Likely) benign	1 lab	bb018a2172
X:70443862 GJB1 A>G	X	70443862	70443862	A	G	GJB1	c.305A>G	NM_000166.6	NP_000157.1:p.(Glu102Gly)	NC_000023.10:g.70443862A>G	(Likely) pathogenic	1 lab	bb045b1616
19:33167798 RGS9BP A>G	19	33167798	33167798	A	G	RGS9BP	c.629A>G	NM_207391.3	NP_997274.2:p.(Lys210Arg)	NC_000019.9:g.33167798A>G	VUS	1 lab	bb04c7cdf3
10:61819556 ANK3 G>A	10	61819556	61819556	G	A	ANK3	c.4968C>T	NM_001204404.2	NP_001191333.1:p.(Asp1656=)	NC_000010.10:g.61819556G>A	(Likely) benign	1 lab	bb0b962c0b
4:87298331 MAPK10 Ref too long to show for this DEL>A	4	87298331	87471954	Ref too long to show for this DEL	A	MAPK10				NC_000004.11:g.87298333_87471954del	VUS	1 lab	bb0de1d1f0
4:155244486 DCHS2 CA>C	4	155244486	155244501	CA	C	DCHS2	c.4019-847del	NM_001358235.2	NP_001345164.1:p.?	NC_000004.11:g.155244501del	(Likely) benign	1 lab	bb14398084
9:107562135 ABCA1 C>T	9	107562135	107562135	C	T	ABCA1	c.4908G>A	NM_005502.4	NP_005493.2:p.(Leu1636=)	NC_000009.11:g.107562135C>T	(Likely) benign	1 lab	bb160a6796
20:34053921 CEP250 C>T	20	34053921	34053921	C	T	CEP250	c.384C>T	NM_007186.6	NP_009117.2:p.(Asp128=)	NC_000020.10:g.34053921C>T	(Likely) benign	1 lab	bb18f73d44
5:140056555 HARS1 C>T	5	140056555	140056555	C	T	HARS1	c.951+19G>A	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140056555C>T	(Likely) benign	1 lab	bb19caaf46
17:45903993 MISSING Ref too long to show for this DEL>G	17	45903993	45929597	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.45903996_45929597del	VUS	1 lab	bb1ada1030
16:57005972 CETP T>C	16	57005972	57005972	T	C	CETP	c.727T>C	NM_000078.3	NP_000069.2:p.(Ser243Pro)	NC_000016.9:g.57005972T>C	(Likely) benign	1 lab	bb1cd528cc
9:137620847 COL5A1 A>T	9	137620847	137620847	A	T	COL5A1	c.924+194A>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620847A>T	(Likely) benign	1 lab	bb1e9c731e
3:128629623 ACAD9 C>G	3	128629623	128629623	C	G	ACAD9	c.1732C>G	NM_014049.5	NP_054768.2:p.(Gln578Glu)	NC_000003.11:g.128629623C>G	VUS	1 lab	bb1f2e67de
X:23847715 MISSING A>Alt too long to show for this DUP	X	23847715	23868517	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.23847716_23868517dup	VUS	1 lab	bb233a1879
2:189855061 COL3A1 G>T	2	189855061	189855061	G	T	COL3A1	c.773G>T	NM_000090.4	NP_000081.2:p.(Gly258Val)	NC_000002.11:g.189855061G>T	(Likely) pathogenic	1 lab	bb24423e55
3:66430879 LRIG1 G>A	3	66430879	66430879	G	A	LRIG1	c.3090C>T	NM_015541.3	NP_056356.2:p.(His1030=)	NC_000003.11:g.66430879G>A	(Likely) benign	1 lab	bb247aeb44
1:63069739 ANGPTL3 A>C	1	63069739	63069739	A	C	ANGPTL3	c.1031A>C	NM_014495.4	NP_055310.1:p.(Tyr344Ser)	NC_000001.10:g.63069739A>C	VUS	1 lab	bb26fdd713
1:6111717 KCNAB2 C>T	1	6111717	6111717	C	T	KCNAB2	c.121C>T	NM_001199862.2	NP_001186791.1:p.(Arg41Trp)	NC_000001.10:g.6111717C>T	(Likely) benign	1 lab	bb28ca1af0
2:21230585 APOB T>C	2	21230585	21230585	T	C	APOB	c.9155A>G	NM_000384.3	NP_000375.3:p.(Asn3052Ser)	NC_000002.11:g.21230585T>C	VUS	1 lab	bb29f4a9c2
1:25891660 LDLRAP1 C>A	1	25891660	25891660	C	A	LDLRAP1	c.748-4C>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891660C>A	VUS	1 lab	bb2db28090
7:91918198 ANKIB1 Ref too long to show for this DEL>T	7	91918198	91922617	Ref too long to show for this DEL	T	ANKIB1	c.-90-6004_-90-1586del	NM_019004.2	NP_061877.1:p.?	NC_000007.13:g.91918199_91922617del	VUS	1 lab	bb30ccd0e0
3:1144839 MISSING G>Alt too long to show for this DUP	3	1144839	1671018	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.1144841_1671018dup	VUS	1 lab	bb31348cfd
6:75857606 COL12A1 T>C	6	75857606	75857606	T	C	COL12A1	c.4288-86A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75857606T>C	(Likely) benign	1 lab	bb326176af
2:21235092 APOB G>T	2	21235092	21235092	G	T	APOB	c.4648C>A	NM_000384.3	NP_000375.3:p.(Leu1550Met)	NC_000002.11:g.21235092G>T	(Likely) benign	1 lab	bb34de6cb2
6:100838644 SIM1 G>A	6	100838644	100838644	G	A	SIM1	c.1894C>T	NM_005068.3	NP_005059.2:p.(His632Tyr)	NC_000006.11:g.100838644G>A	VUS	1 lab	bb35cc16fc
2:47702392 MSH2 T>A	2	47702392	47702392	T	A	MSH2	c.1988T>A	NM_000251.3	NP_000242.1:p.(Met663Lys)	NC_000002.11:g.47702392T>A	(Likely) benign	1 lab	bb37c99532
17:59482664 TBX2 G>T	17	59482664	59482664	G	T	TBX2	c.1153G>T	NM_005994.4	NP_005985.3:p.(Ala385Ser)	NC_000017.10:g.59482664G>T	VUS	1 lab	bb38fe98bb
X:152771356 BGN C>T	X	152771356	152771356	C	T	BGN	c.387C>T	NM_001711.6	NP_001702.1:p.(Ile129=)	NC_000023.10:g.152771356C>T	(Likely) benign	1 lab	bb4026c06e
3:69036678 EOGT G>C	3	69036678	69036678	G	C	EOGT	c.1084-14C>G	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69036678G>C	(Likely) benign	1 lab	bb40cf9245
2:189864541 COL3A1 C>G	2	189864541	189864541	C	G	COL3A1	c.2230-27C>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864541C>G	(Likely) benign	1 lab	bb6c9ba960
11:47435034 SLC39A13 C>T	11	47435034	47435034	C	T	SLC39A13	c.621C>T	NM_001128225.3	NP_001121697.2:p.(Leu207=)	NC_000011.9:g.47435034C>T	(Likely) benign	1 lab	bb4451ec02
10:30638208 MTPAP TA>T	10	30638208	30638230	TA	T	MTPAP				NC_000010.10:g.30638230del	(Likely) benign	1 lab	bb4530260b
19:11666071 ELOF1 CAA>C	19	11666071	11666092	CAA	C	ELOF1	c.-11-29_-11-28del	NM_001363675.2	NP_001350604.1:p.?	NC_000019.9:g.11666091_11666092del	(Likely) benign	1 lab	bb457f6900
16:31196423 FUS T>C	16	31196423	31196423	T	C	FUS	c.687T>C	NM_004960.4	NP_004951.1:p.(Gly229=)	NC_000016.9:g.31196423T>C	(Likely) benign	1 lab	bb48201d31
12:49448505 KMT2D C>T	12	49448505	49448505	C	T	KMT2D	c.206G>A	NM_003482.4	NP_003473.3:p.(Cys69Tyr)	NC_000012.11:g.49448505C>T	VUS	1 lab	bb48deb5c6
5:178553019 ADAMTS2 T>C	5	178553019	178553019	T	C	ADAMTS2	c.2730A>G	NM_014244.5	NP_055059.2:p.(Pro910=)	NC_000005.9:g.178553019T>C	(Likely) benign	1 lab	bb4a2fa48c
4:15982076 PROM1 G>A	4	15982076	15982076	G	A	PROM1	c.2458C>T	NM_006017.3	NP_006008.1:p.(Arg820Cys)	NC_000004.11:g.15982076G>A	VUS	1 lab	bb4cdf6055
3:60522599 FHIT G>T	3	60522599	60522599	G	T	FHIT	c.97C>A	NM_002012.4	NP_002003.1:p.(Pro33Thr)	NC_000003.11:g.60522599G>T	VUS	1 lab	bb507bb9e2
19:7621582 PNPLA6 C>T	19	7621582	7621582	C	T	PNPLA6	c.3282C>T	NM_001166111.2	NP_001159583.1:p.(Thr1094=)	NC_000019.9:g.7621582C>T	(Likely) benign	1 lab	bb508f2f5d
5:180056292 FLT4 G>A	5	180056292	180056292	G	A	FLT4	c.952C>T	NM_182925.5	NP_891555.2:p.(Arg318Ter)	NC_000005.9:g.180056292G>A	(Likely) pathogenic	1 lab	bb52cee8f8
16:88502887 ZNF469 G>A	16	88502887	88502887	G	A	ZNF469	c.9009G>A	NM_001367624.2	NP_001354553.1:p.(Pro3003=)	NC_000016.9:g.88502887G>A	(Likely) benign	1 lab	bb564a3726
19:5666908 MISSING G>Alt too long to show for this DUP	19	5666908	5746878	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.5666909_5746878dup	VUS	1 lab	bb569e6b6a
10:24909512 ARHGAP21 G>A	10	24909512	24909512	G	A	ARHGAP21	c.1312C>T	NM_020824.4	NP_065875.3:p.(Arg438Ter)	NC_000010.10:g.24909512G>A	VUS	1 lab	bb597209f7
2:62081105 FAM161A T>G	2	62081105	62081105	T	G	FAM161A	c.72A>C	NM_001201543.2	NP_001188472.1:p.(Gly24=)	NC_000002.11:g.62081105T>G	(Likely) benign	1 lab	bb5a1bfcde
1:6029180 NPHP4 G>A	1	6029180	6029180	G	A	NPHP4	c.419C>T	NM_015102.5	NP_055917.1:p.(Pro140Leu)	NC_000001.10:g.6029180G>A	VUS	1 lab	bb5f830f90
6:32009880 TNXB G>A	6	32009880	32009880	G	A	TNXB	c.12372C>T	NM_019105.8	NP_061978.6:p.(Asp4124=)	NC_000006.11:g.32009880G>A	(Likely) benign	1 lab	bb60a1d041
10:90762896 FAS G>A	10	90762896	90762896	G	A	FAS	c.141G>A	NM_000043.6	NP_000034.1:p.(Gln47=)	NC_000010.10:g.90762896G>A	(Likely) benign	1 lab	bb63efe378
17:40689613 NAGLU G>C	17	40689613	40689613	G	C	NAGLU	c.531+50G>C	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40689613G>C	(Likely) benign	1 lab	bb64c82a8d
6:152466658 SYNE1 C>T	6	152466658	152466658	C	T	SYNE1	c.24796G>A	NM_033071.4	NP_149062.2:p.(Val8266Ile)	NC_000006.11:g.152466658C>T	VUS	1 lab	bb6c291a98
11:47373535 MYBPC3 C>T	11	47373535	47373535	C	T	MYBPC3	c.26-479G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373535C>T	(Likely) benign	1 lab	bb6c9aa601
2:179514536 TTN A>G	2	179514536	179514536	A	G	TTN	c.39895+8T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179514536A>G	(Likely) benign	1 lab	bb6e9c24a5
9:107573169 ABCA1 C>T	9	107573169	107573169	C	T	ABCA1	c.4087G>A	NM_005502.4	NP_005493.2:p.(Val1363Met)	NC_000009.11:g.107573169C>T	VUS	1 lab	bb70d6ef23
2:179392051 TTN C>CA	2	179392051	179392059	C	CA	TTN	c.99977-18dup	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179392059dup	(Likely) benign	1 lab	bb70eb4b0f
14:71148014 MISSING Ref too long to show for this DEL>A	14	71148014	71161389	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.71148015_71161389del	VUS	1 lab	bb719da8f0
4:16168170 TAPT1 C>G	4	16168170	16168170	C	G	TAPT1	c.1474+86G>C	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16168170C>G	(Likely) benign	1 lab	bb71d451a9
5:82836065 VCAN G>GT	5	82836065	82836067	G	GT	VCAN	c.7245dup	NM_004385.5	NP_004376.2:p.(Thr2416TyrfsTer8)	NC_000005.9:g.82836067dup	VUS	1 lab	bb737a9584
9:133541981 PRDM12 C>T	9	133541981	133541981	C	T	PRDM12	c.224-14C>T	NM_021619.3	NP_067632.2:p.?	NC_000009.11:g.133541981C>T	(Likely) benign	1 lab	bb754cf4f7
16:15127437 MISSING Ref too long to show for this DEL>C	16	15127437	15416636	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.15127438_15416636del	VUS	1 lab	bb76a61ef7
2:44065720 ABCG5 C>T	2	44065720	44065720	C	T	ABCG5	c.99G>A	NM_022436.3	NP_071881.1:p.(Pro33=)	NC_000002.11:g.44065720C>T	(Likely) benign	1 lab	bb7adce99d
2:177205835 MISSING Ref too long to show for this DEL>A	2	177205835	177273826	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.177205836_177273826del	VUS	1 lab	bb7b305696
1:26383816 TRIM63 A>G	1	26383816	26383816	A	G	TRIM63	c.857T>C	NM_032588.4	NP_115977.2:p.(Ile286Thr)	NC_000001.10:g.26383816A>G	VUS	1 lab	bb7e890d8d
19:42259940 MISSING Ref too long to show for this DEL>C	19	42259940	42289030	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.42259942_42289030del	VUS	1 lab	bb7efbfeda
11:88553026 GRM5 C>Alt too long to show for this DUP	11	88553026	88567568	C	Alt too long to show for this DUP	GRM5	c.911+15506_911+30047dup	NM_001143831.3	NP_001137303.1:p.?	NC_000011.9:g.88553027_88567568dup	VUS	1 lab	bb8114dded
6:56499262 DST G>A	6	56499262	56499262	G	A	DST	c.3393C>T	NM_001144769.5	NP_001138241.1:p.(Asn1131=)	NC_000006.11:g.56499262G>A	(Likely) benign	1 lab	bb8325645e
15:31323288 TRPM1 T>A	15	31323288	31323288	T	A	TRPM1	c.3076A>T	NM_001252020.2	NP_001238949.1:p.(Ile1026Phe)	NC_000015.9:g.31323288T>A	VUS	1 lab	bb84580234
4:140272737 NAA15 T>G	4	140272737	140272737	T	G	NAA15	c.986T>G	NM_057175.5	NP_476516.1:p.(Leu329Ter)	NC_000004.11:g.140272737T>G	(Likely) pathogenic	1 lab	bb847b70dc
22:42456310 NAGA G>A	22	42456310	42456310	G	A	NAGA	c.1209C>T	NM_000262.3	NP_000253.1:p.(Ile403=)	NC_000022.10:g.42456310G>A	(Likely) benign	1 lab	bb8495fbfd
2:86459857 REEP1 G>A	2	86459857	86459857	G	A	REEP1	c.251C>T	NM_001164732.2	NP_001158204.1:p.(Thr84Met)	NC_000002.11:g.86459857G>A	(Likely) benign	1 lab	bb855884ce
X:31227767 DMD G>T	X	31227767	31227767	G	T	DMD	c.9042C>A	NM_004010.3	NP_004001.1:p.(Asn3014Lys)	NC_000023.10:g.31227767G>T	VUS	1 lab	bb8644787a
5:175348827 MISSING Ref too long to show for this DEL>C	5	175348827	175477274	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.175348829_175477274del	VUS	1 lab	bb87d917b3
19:58352420 ZNF587B G>C	19	58352420	58352420	G	C	ZNF587B	c.378G>C	NM_001204818.2	NP_001191747.1:p.(Gly126=)	NC_000019.9:g.58352420G>C	(Likely) benign	1 lab	bb8da4eead
12:21918933 KCNJ8 T>A	12	21918933	21918933	T	A	KCNJ8	c.999A>T	NM_004982.4	NP_004973.1:p.(Gly333=)	NC_000012.11:g.21918933T>A	VUS	1 lab	bb90231e16
17:18540424 MISSING G>Alt too long to show for this DUP	17	18540424	18917195	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.18540425_18917195dup	VUS	1 lab	bb91ff4d20
2:96944114 SNRNP200 T>A	2	96944114	96944114	T	A	SNRNP200	c.5489-18A>T	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96944114T>A	(Likely) benign	1 lab	bb931da043
2:21231380 APOB G>A	2	21231380	21231380	G	A	APOB	c.8360C>T	NM_000384.3	NP_000375.3:p.(Ala2787Val)	NC_000002.11:g.21231380G>A	(Likely) benign	1 lab	bb93d7c81c
16:2114279 TSC2 C>T	16	2114279	2114279	C	T	TSC2	c.1450C>T	NM_000548.5	NP_000539.2:p.(Leu484=)	NC_000016.9:g.2114279C>T	(Likely) benign	1 lab	bb9491b13b
17:8300180 MISSING G>Alt too long to show for this DUP	17	8300180	8326651	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8300182_8326651dup	VUS	1 lab	bb95fd23fe
X:89177126 TGIF2LX G>A	X	89177126	89177126	G	A	TGIF2LX	c.42G>A	NM_138960.4	NP_620410.3:p.(Pro14=)	NC_000023.10:g.89177126G>A	(Likely) benign	1 lab	bb961bcfa4
7:138602447 KIAA1549 G>A	7	138602447	138602447	G	A	KIAA1549	c.1925C>T	NM_020910.3	NP_065961.2:p.(Ser642Leu)	NC_000007.13:g.138602447G>A	(Likely) benign	1 lab	bb98f01b50
21:47532264 COL6A2 G>A	21	47532264	47532264	G	A	COL6A2	c.487G>A	NM_058175.3	NP_478055.2:p.(Gly163Ser)	NC_000021.8:g.47532264G>A	(Likely) benign	1 lab	bb99cd4d67
1:35251189 GJB3 G>A	1	35251189	35251189	G	A	GJB3	c.*13G>A	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251189G>A	(Likely) benign	1 lab	bb9a851fb6
19:7516024 ARHGEF18 C>G	19	7516024	7516024	C	G	ARHGEF18	c.1012-11C>G	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7516024C>G	(Likely) benign	1 lab	bb9b823616
18:25565083 CDH2 C>T	18	25565083	25565083	C	T	CDH2	c.2090G>A	NM_001792.5	NP_001783.2:p.(Arg697His)	NC_000018.9:g.25565083C>T	VUS	1 lab	bb9f3b7c3d
5:140059429 HARS1 T>C	5	140059429	140059429	T	C	HARS1	c.340A>G	NM_002109.6	NP_002100.2:p.(Ile114Val)	NC_000005.9:g.140059429T>C	VUS	1 lab	bba34e9cba
7:45109040 CCM2 A>Alt too long to show for this DUP	7	45109040	45113056	A	Alt too long to show for this DUP	CCM2	c.610-384_804-3dup	NM_031443.4	NP_113631.1:p.?	NC_000007.13:g.45109041_45113056dup	VUS	1 lab	bba6f97e3d
12:21294538 SLCO1B1 A>G	12	21294538	21294538	A	G	SLCO1B1	c.30A>G	NM_006446.5	NP_006437.3:p.(Thr10=)	NC_000012.11:g.21294538A>G	(Likely) benign	1 lab	bba7c34692
7:44149705 AEBP1 C>G	7	44149705	44149705	C	G	AEBP1	c.1242C>G	NM_001129.5	NP_001120.3:p.(Arg414=)	NC_000007.13:g.44149705C>G	(Likely) benign	1 lab	bbab444546
9:107546754 ABCA1 T>TG	9	107546754	107546756	T	TG	ABCA1	c.6646-19dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546756dup	(Likely) benign	1 lab	bbac4c155b
1:110148575 GNAT2 A>G	1	110148575	110148575	A	G	GNAT2	c.720+17T>C	NM_005272.5	NP_005263.1:p.?	NC_000001.10:g.110148575A>G	(Likely) benign	1 lab	bbad7a351c
11:61161437 TMEM216 G>T	11	61161437	61161437	G	T	TMEM216	c.218G>T	NM_001173990.3	NP_001167461.1:p.(Arg73Leu)	NC_000011.9:g.61161437G>T	(Likely) pathogenic	1 lab	bbadc04b86
7:128490322 FLNC C>T	7	128490322	128490322	C	T	FLNC	c.5299-116C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490322C>T	(Likely) benign	1 lab	bbae4a2072
X:70442525 GJB1 G>A	X	70442525	70442525	G	A	GJB1	c.-16-1017G>A	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442525G>A	(Likely) benign	1 lab	bbaf5f9d64
2:46800827 MISSING C>Alt too long to show for this DUP	2	46800827	46828803	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.46800828_46828803dup	VUS	1 lab	bbb7dfdcff
1:25893382 LDLRAP1 C>T	1	25893382	25893382	C	T	LDLRAP1	c.826C>T	NM_015627.3	NP_056442.2:p.(Leu276=)	NC_000001.10:g.25893382C>T	(Likely) benign	1 lab	bbba1da342
2:179539135 TTN C>T	2	179539135	179539135	C	T	TTN	c.34614G>A	NM_001267550.2	NP_001254479.2:p.(Val11538=)	NC_000002.11:g.179539135C>T	(Likely) benign	1 lab	bbbb517394
18:47088655 LIPG T>G	18	47088655	47088655	T	G	LIPG	c.-24T>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088655T>G	(Likely) benign	1 lab	bbbba0c550
19:8999498 MUC16 GCTTT>G	19	8999498	8999502	GCTTT	G	MUC16	c.40673_40676del	NM_024690.2	NP_078966.2:p.(Lys13558ThrfsTer13)	NC_000019.9:g.8999499_8999502del	(Likely) benign	1 lab	bbbc92df78
6:152500456 SYNE1 Ref too long to show for this DEL>A	6	152500456	152610382	Ref too long to show for this DEL	A	SYNE1	c.18012+4342_23460+814del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152500458_152610382del	VUS	1 lab	bbbd11efc8
9:107585213 ABCA1 C>T	9	107585213	107585213	C	T	ABCA1	c.2657-265G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585213C>T	(Likely) benign	1 lab	bbbd65308a
7:139661914 TBXAS1 T>C	7	139661914	139661914	T	C	TBXAS1	c.1016T>C	NM_001061.7	NP_001052.3:p.(Leu339Pro)	NC_000007.13:g.139661914T>C	(Likely) pathogenic	1 lab	bbbdfc741a
21:46930003 COL18A1 CCCT>C	21	46930003	46930006	CCCT	C	COL18A1	c.4758_4760del	NM_130444.3	NP_569711.2:p.(Leu1587del)	NC_000021.8:g.46930004_46930006del	VUS	1 lab	bbbece8b92
7:2791524 GNA12 Ref too long to show for this DEL>A	7	2791524	2830171	Ref too long to show for this DEL	A	GNA12	c.525+4391_526-18390del	NM_007353.3	NP_031379.2:p.?	NC_000007.13:g.2791525_2830171del	VUS	1 lab	bbc1a5e9a8
16:57007414 CETP G>A	16	57007414	57007414	G	A	CETP	c.922G>A	NM_000078.3	NP_000069.2:p.(Glu308Lys)	NC_000016.9:g.57007414G>A	VUS	1 lab	bbc305799e
16:57017327 CETP A>C	16	57017327	57017327	A	C	CETP	c.1407+4A>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017327A>C	VUS	1 lab	bbc37489fd
1:55524219 PCSK9 A>C	1	55524219	55524219	A	C	PCSK9	c.1402A>C	NM_174936.4	NP_777596.2:p.(Thr468Pro)	NC_000001.10:g.55524219A>C	VUS	1 lab	bbc4a61c14
5:149771144 TCOF1 AG>A	5	149771144	149771146	AG	A	TCOF1	c.3223del	NM_001135243.2	NP_001128715.1:p.(Ala1075LeufsTer3)	NC_000005.9:g.149771146del	(Likely) pathogenic	1 lab	bbc5741693
1:116927424 ATP1A1 T>G	1	116927424	116927424	T	G	ATP1A1	c.143T>G	NM_001160233.2	NP_001153705.1:p.(Leu48Arg)	NC_000001.10:g.116927424T>G	(Likely) pathogenic	1 lab	bbc608f9d0
4:650773 PDE6B C>T	4	650773	650773	C	T	PDE6B	c.1218C>T	NM_000283.4	NP_000274.3:p.(Asp406=)	NC_000004.11:g.650773C>T	(Likely) benign	1 lab	bbc62de066
14:29237066 FOXG1 TC>T	14	29237066	29237068	TC	T	FOXG1	c.583del	NM_005249.5	NP_005240.3:p.(Arg195GlyfsTer18)	NC_000014.8:g.29237068del	(Likely) pathogenic	1 lab	bbc68e643e
X:130416539 IGSF1 T>C	X	130416539	130416539	T	C	IGSF1	c.1125A>G	NM_001170961.2	NP_001164432.1:p.(Thr375=)	NC_000023.10:g.130416539T>C	(Likely) benign	1 lab	bbc74fc926
18:25543448 CDH2 A>G	18	25543448	25543448	A	G	CDH2	c.2387T>C	NM_001792.5	NP_001783.2:p.(Val796Ala)	NC_000018.9:g.25543448A>G	VUS	1 lab	bbc9559f6f
15:23892237 MAGEL2 G>A	15	23892237	23892237	G	A	MAGEL2	c.653C>T	NM_019066.5	NP_061939.3:p.(Pro218Leu)	NC_000015.9:g.23892237G>A	(Likely) benign	1 lab	bbcabe9922
2:179307992 PRKRA A>T	2	179307992	179307992	A	T	PRKRA	c.481+2T>A	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179307992A>T	(Likely) benign	1 lab	bbcc224be5
9:107565890 ABCA1 C>CT	9	107565890	107565900	C	CT	ABCA1	c.4560-294dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107565900dup	(Likely) benign	1 lab	bbcee3ce38
6:100898212 SIM1 G>A	6	100898212	100898212	G	A	SIM1	c.279C>T	NM_005068.3	NP_005059.2:p.(Phe93=)	NC_000006.11:g.100898212G>A	(Likely) benign	1 lab	bbcf4e57fc
17:39921230 JUP A>G	17	39921230	39921230	A	G	JUP	c.999T>C	NM_001352773.2	NP_001339702.1:p.(Arg333=)	NC_000017.10:g.39921230A>G	(Likely) benign	1 lab	bbd1cf77bc
9:107576698 ABCA1 A>C	9	107576698	107576698	A	C	ABCA1	c.3787+10T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576698A>C	(Likely) benign	1 lab	bbd638da04
5:133956714 SAR1B T>C	5	133956714	133956714	T	C	SAR1B	c.87A>G	NM_001033503.3	NP_001028675.1:p.(Val29=)	NC_000005.9:g.133956714T>C	(Likely) benign	1 lab	bbd7ba3aec
10:100190999 HPS1 G>A	10	100190999	100190999	G	A	HPS1	c.557C>T	NM_000195.5	NP_000186.2:p.(Ala186Val)	NC_000010.10:g.100190999G>A	(Likely) benign	1 lab	bbd8683d66
11:47365241 MYBPC3 T>C	11	47365241	47365241	T	C	MYBPC3	c.1091-66A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365241T>C	(Likely) benign	1 lab	bbda2da713
2:74605193 DCTN1 T>G	2	74605193	74605193	T	G	DCTN1	c.213A>C	NM_004082.5	NP_004073.2:p.(Gly71=)	NC_000002.11:g.74605193T>G	(Likely) benign	1 lab	bbda9ebad9
1:6150431 KCNAB2 C>G	1	6150431	6150431	C	G	KCNAB2	c.515-18C>G	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6150431C>G	(Likely) benign	1 lab	bbdcf3e55b
X:70439000 GJB1 C>CTTATTA	X	70439000	70439038	C	CTTATTA	GJB1	c.-17+3893_-17+3898dup	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439033_70439038dup	(Likely) benign	1 lab	bbde52f4d9
12:125299559 SCARB1 G>A	12	125299559	125299559	G	A	SCARB1	c.386C>T	NM_005505.5	NP_005496.4:p.(Ser129Leu)	NC_000012.11:g.125299559G>A	(Likely) benign	1 lab	bbded49690
19:49657889 HRC T>TTCC	19	49657889	49657915	T	TTCC	HRC	c.603_605dup	NM_002152.3	NP_002143.1:p.(Glu204dup)	NC_000019.9:g.49657913_49657915dup	(Likely) benign	1 lab	bbdf2bea80
X:140352889 MISSING Ref too long to show for this DEL>T	X	140352889	140738614	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.140352891_140738614del	VUS	1 lab	bbe02f51ef
17:2171636 SMG6 Ref too long to show for this DEL>G	17	2171636	2180858	Ref too long to show for this DEL	G	SMG6	c.2661+5083_2661+14304del	NM_017575.5	NP_060045.4:p.?	NC_000017.10:g.2171637_2180858del	VUS	1 lab	bbe4b3a5ce
11:1017797 MUC6 C>G	11	1017797	1017797	C	G	MUC6	c.5004G>C	NM_005961.3	NP_005952.2:p.(Ala1668=)	NC_000011.9:g.1017797C>G	(Likely) benign	1 lab	bbe5433d29
15:40700120 IVD G>A	15	40700120	40700120	G	A	IVD	c.235-18G>A	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40700120G>A	(Likely) benign	1 lab	bbe5957046
9:35698650 TLN1 C>G	9	35698650	35698650	C	G	TLN1	c.7152G>C	NM_006289.4	NP_006280.3:p.(Leu2384=)	NC_000009.11:g.35698650C>G	(Likely) benign	1 lab	bbe6389be2
15:48703477 FBN1 G>A	15	48703477	48703477	G	A	FBN1	c.8326C>T	NM_000138.5	NP_000129.3:p.(Arg2776Ter)	NC_000015.9:g.48703477G>A	(Likely) pathogenic	1 lab	bbe749de99
2:179667003 TTN C>T	2	179667003	179667003	C	T	TTN	c.157G>A	NM_133378.4	NP_596869.4:p.(Gly53Ser)	NC_000002.11:g.179667003C>T	VUS	1 lab	bbe78513e5
6:57512789 PRIM2 G>GAT	6	57512789	57512790	G	GAT	PRIM2	c.*86_*98delinsTGAT	NM_000947.5	NP_000938.2:p.?	NC_000006.11:g.57512789_57512790insAT	(Likely) benign	1 lab	bbe89c38b4
2:179399151 TTN G>A	2	179399151	179399151	G	A	TTN	c.102191C>T	NM_001267550.2	NP_001254479.2:p.(Ala34064Val)	NC_000002.11:g.179399151G>A	VUS	1 lab	bbeb5f4eee
8:68092083 CSPP1 A>G	8	68092083	68092083	A	G	CSPP1	c.2107-15A>G	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68092083A>G	(Likely) benign	1 lab	bbebcde1d9
6:75823339 COL12A1 G>T	6	75823339	75823339	G	T	COL12A1	c.7819C>A	NM_004370.6	NP_004361.3:p.(Gln2607Lys)	NC_000006.11:g.75823339G>T	VUS	1 lab	bbec1ebf9e
11:1862727 TNNI2 CGAG>C	11	1862727	1862733	CGAG	C	TNNI2	c.499_501del	NM_001145829.2	NP_001139301.1:p.(Glu167del)	NC_000011.9:g.1862731_1862733del	(Likely) pathogenic	1 lab	bbecfc2028
6:7584295 DSP C>T	6	7584295	7584295	C	T	DSP	c.6800C>T	NM_004415.4	NP_004406.2:p.(Thr2267Ile)	NC_000006.11:g.7584295C>T	VUS	1 lab	bbf6c756c4
15:48780621 FBN1 A>C	15	48780621	48780621	A	C	FBN1	c.3152T>G	NM_000138.5	NP_000129.3:p.(Phe1051Cys)	NC_000015.9:g.48780621A>C	(Likely) pathogenic	1 lab	bbf82885c5
X:14861817 FANCB T>C	X	14861817	14861817	T	C	FANCB	c.2452A>G	NM_001018113.3	NP_001018123.1:p.(Arg818Gly)	NC_000023.10:g.14861817T>C	(Likely) benign	1 lab	bbf8fede07
8:82552866 MISSING Ref too long to show for this DEL>T	8	82552866	82738596	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.82552867_82738596del	VUS	1 lab	bbfef1ea01
4:121675887 PRDM5 G>A	4	121675887	121675887	G	A	PRDM5	c.1538-94C>T	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121675887G>A	(Likely) benign	1 lab	bc01df4c20
4:100532504 MTTP C>T	4	100532504	100532504	C	T	MTTP	c.1883C>T	NM_000253.4	NP_000244.2:p.(Ala628Val)	NC_000004.11:g.100532504C>T	VUS	1 lab	bc04afe1e9
11:47370459 MYBPC3 T>TTATATA	11	47370459	47370478	T	TTATATA	MYBPC3	c.655-373_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370473_47370478dup	(Likely) benign	1 lab	bc0509f635
22:24108327 CHCHD10 TG>T	22	24108327	24108328	TG	T	CHCHD10	c.417del	NM_001301339.2	NP_001288268.1:p.(Cys139Ter)	NC_000022.10:g.24108328del	VUS	1 lab	bc05ad8a9e
11:47362166 MYBPC3 C>T	11	47362166	47362166	C	T	MYBPC3	c.1927+388G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362166C>T	(Likely) benign	1 lab	bc079ec281
19:40901339 PRX C>T	19	40901339	40901339	C	T	PRX	c.2920G>A	NM_181882.3	NP_870998.2:p.(Glu974Lys)	NC_000019.9:g.40901339C>T	VUS	1 lab	bc0850e0e2
1:158615385 SPTA1 C>T	1	158615385	158615385	C	T	SPTA1	c.3897-1G>A	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158615385C>T	(Likely) pathogenic	1 lab	bc09fb8fba
5:127644953 FBN2 G>C	5	127644953	127644953	G	C	FBN2	c.5339C>G	NM_001999.4	NP_001990.2:p.(Pro1780Arg)	NC_000005.9:g.127644953G>C	VUS	1 lab	bc0aea76a6
10:62029934 ANK3 G>C	10	62029934	62029934	G	C	ANK3	c.468C>G	NM_020987.5	NP_066267.2:p.(Val156=)	NC_000010.10:g.62029934G>C	(Likely) benign	1 lab	bc0d547c7e
5:154184111 MISSING C>Alt too long to show for this DUP	5	154184111	154257657	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.154184112_154257657dup	VUS	1 lab	bc1323ca7c
20:5548208 GPCPD1 TAA>T	20	5548208	5548224	TAA	T	GPCPD1	c.1150-4_1150-3del	NM_019593.5	NP_062539.1:p.?	NC_000020.10:g.5548223_5548224del	(Likely) benign	1 lab	bc13520f72
1:161276605 MPZ A>G	1	161276605	161276605	A	G	MPZ	c.341T>C	NM_000530.8	NP_000521.2:p.(Ile114Thr)	NC_000001.10:g.161276605A>G	(Likely) pathogenic	1 lab	bc17c233d0
16:23640503 PALB2 T>C	16	23640503	23640503	T	C	PALB2	c.2586+22A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640503T>C	(Likely) benign	1 lab	bc187ef41d
11:116661335 APOA5 G>A	11	116661335	116661335	G	A	APOA5	c.610C>T	NM_052968.5	NP_443200.2:p.(Arg204Cys)	NC_000011.9:g.116661335G>A	VUS	1 lab	bc1a68312b
3:49690784 BSN G>A	3	49690784	49690784	G	A	BSN	c.3795G>A	NM_003458.4	NP_003449.2:p.(Gln1265=)	NC_000003.11:g.49690784G>A	(Likely) benign	1 lab	bc1ab447f8
1:161276498 MPZ C>T	1	161276498	161276498	C	T	MPZ	c.448G>A	NM_000530.8	NP_000521.2:p.(Val150Met)	NC_000001.10:g.161276498C>T	VUS	1 lab	bc1b976a68
17:27805353 TAOK1 C>CA	17	27805353	27805354	C	CA	TAOK1	c.437_438insA	NM_020791.4	NP_065842.1:p.(Met147TyrfsTer4)	NC_000017.10:g.27805353_27805354insA	(Likely) pathogenic	1 lab	bc1c20d14f
10:88476172 LDB3 C>A	10	88476172	88476172	C	A	LDB3	c.1335C>A	NM_001171610.2	NP_001165081.1:p.(Ser445=)	NC_000010.10:g.88476172C>A	(Likely) benign	1 lab	bc1cb51d65
1:26759513 DHDDS C>T	1	26759513	26759513	C	T	DHDDS	c.63+14C>T	NM_024887.4	NP_079163.2:p.?	NC_000001.10:g.26759513C>T	(Likely) benign	1 lab	bc1da14f59
21:27084686 JAM2 A>C	21	27084686	27084686	A	C	JAM2	c.856A>C	NM_021219.4	NP_067042.1:p.(Ser286Arg)	NC_000021.8:g.27084686A>C	(Likely) benign	1 lab	bc1e96e231
22:29876372 NEFH G>T	22	29876372	29876372	G	T	NEFH	c.121G>T	NM_021076.4	NP_066554.2:p.(Ala41Ser)	NC_000022.10:g.29876372G>T	VUS	1 lab	bc1ef901f3
2:21263974 APOB A>G	2	21263974	21263974	A	G	APOB	c.238-19T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21263974A>G	VUS	1 lab	bc1f2ca40b
15:31294595 TRPM1 G>T	15	31294595	31294595	G	T	TRPM1	c.4359C>A	NM_001252020.2	NP_001238949.1:p.(Pro1453=)	NC_000015.9:g.31294595G>T	(Likely) benign	1 lab	bc1f4391a2
17:79517286 FAAP100 T>C	17	79517286	79517286	T	C	FAAP100	c.1234A>G	NM_025161.6	NP_079437.5:p.(Arg412Gly)	NC_000017.10:g.79517286T>C	(Likely) benign	1 lab	bc1fbc2272
2:21251275 APOB G>T	2	21251275	21251275	G	T	APOB	c.1753C>A	NM_000384.3	NP_000375.3:p.(Gln585Lys)	NC_000002.11:g.21251275G>T	VUS	1 lab	bc20aae7b0
13:110802788 COL4A1 C>T	13	110802788	110802788	C	T	COL4A1	c.4932G>A	NM_001845.6	NP_001836.3:p.(Lys1644=)	NC_000013.10:g.110802788C>T	(Likely) benign	1 lab	bc210f18d5
1:213061850 FLVCR1 C>T	1	213061850	213061850	C	T	FLVCR1	c.1327C>T	NM_014053.4	NP_054772.1:p.(Leu443Phe)	NC_000001.10:g.213061850C>T	VUS	1 lab	bc219d02bb
11:47361763 MYBPC3 TACAC>T	11	47361763	47361768	TACAC	T	MYBPC3	c.1928-426_1928-423del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361765_47361768del	(Likely) benign	1 lab	bc222dd436
4:170487167 MISSING C>Alt too long to show for this DUP	4	170487167	170555723	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.170487168_170555723dup	VUS	1 lab	bc289f5859
8:144295140 GPIHBP1 G>A	8	144295140	144295140	G	A	GPIHBP1	c.-3G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295140G>A	VUS	1 lab	bc2fe5ace7
10:52751461 PRKG1 G>A	10	52751461	52751461	G	A	PRKG1	c.266+57G>A	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.52751461G>A	(Likely) benign	1 lab	bc30bb4906
18:28650716 DSC2 T>C	18	28650716	28650716	T	C	DSC2	c.2226A>G	NM_004949.5	NP_004940.1:p.(Thr742=)	NC_000018.9:g.28650716T>C	(Likely) benign	1 lab	bc314d33bc
3:193173869 MISSING Ref too long to show for this DEL>A	3	193173869	193338611	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.193173871_193338611del	(Likely) pathogenic	1 lab	bc33e20c36
2:48033891 MSH6 T>TTC	2	48033891	48033893	T	TTC	MSH6	c.4002-26_4002-25insCT	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033892_48033893insCT	(Likely) benign	1 lab	bc342811fe
21:47786869 PCNT C>T	21	47786869	47786869	C	T	PCNT	c.2980C>T	NM_006031.6	NP_006022.3:p.(Arg994Ter)	NC_000021.8:g.47786869C>T	(Likely) pathogenic	1 lab	bc3727cfa4
14:23898189 MYH7 T>C	14	23898189	23898189	T	C	MYH7	c.1382A>G	NM_000257.4	NP_000248.2:p.(Asp461Gly)	NC_000014.8:g.23898189T>C	VUS	1 lab	bc3b6b466d
9:137693926 COL5A1 G>A	9	137693926	137693926	G	A	COL5A1	c.3006+73G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137693926G>A	(Likely) benign	1 lab	bc3cb818b7
2:21230058 APOB T>A	2	21230058	21230058	T	A	APOB	c.9682A>T	NM_000384.3	NP_000375.3:p.(Ile3228Phe)	NC_000002.11:g.21230058T>A	VUS	1 lab	bc53092929
19:15132736 TEKTL1 A>C	19	15132736	15132736	A	C	TEKTL1	c.1251+5A>C	NM_173482.3	NP_775753.2:p.?	NC_000019.9:g.15132736A>C	(Likely) benign	1 lab	bc565455db
8:133945543 TG T>TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	8	133945543	133945561	T	TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	TG	c.4817-246_4817-245insTTGGAGCTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133945560_133945561insTTGGAGCTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	(Likely) benign	1 lab	bc40cefe09
2:179616276 TTN A>G	2	179616276	179616276	A	G	TTN	c.10851T>C	NM_133379.5	NP_596870.2:p.(His3617=)	NC_000002.11:g.179616276A>G	(Likely) benign	1 lab	bc41b3d074
12:28470043 CCDC91 Ref too long to show for this DEL>T	12	28470043	28626926	Ref too long to show for this DEL	T	CCDC91	c.576+9363_1102-10059del	NM_018318.5	NP_060788.3:p.?	NC_000012.11:g.28470045_28626926del	VUS	1 lab	bc49c64b12
9:133948141 LAMC3 C>T	9	133948141	133948141	C	T	LAMC3	c.3336C>T	NM_006059.4	NP_006050.3:p.(Cys1112=)	NC_000009.11:g.133948141C>T	(Likely) benign	1 lab	bc4a3f078f
2:44099138 ABCG8 C>T	2	44099138	44099138	C	T	ABCG8	c.988C>T	NM_022437.3	NP_071882.1:p.(Arg330Cys)	NC_000002.11:g.44099138C>T	VUS	1 lab	bc4b9c4abb
9:35714218 TLN1 C>A	9	35714218	35714218	C	A	TLN1	c.3120+18G>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35714218C>A	(Likely) benign	1 lab	bc4be23286
1:3342127 PRDM16 C>T	1	3342127	3342127	C	T	PRDM16	c.2940-18C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342127C>T	(Likely) benign	1 lab	bc4e90fb11
12:57884173 MARS1 G>A	12	57884173	57884173	G	A	MARS1	c.663+11G>A	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57884173G>A	(Likely) benign	1 lab	bca8baf4c7
7:750978 PRKAR1B C>T	7	750978	750978	C	T	PRKAR1B	c.165G>A	NM_001164761.2	NP_001158233.1:p.(Glu55=)	NC_000007.13:g.750978C>T	(Likely) benign	1 lab	bc504f909a
5:178413731 GRM6 G>A	5	178413731	178413731	G	A	GRM6	c.1524C>T	NM_000843.4	NP_000834.2:p.(Gly508=)	NC_000005.9:g.178413731G>A	(Likely) benign	1 lab	bc50c4ab59
8:19796899 LPL G>C	8	19796899	19796899	G	C	LPL	c.-53G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796899G>C	(Likely) pathogenic	1 lab	bc5a7f8438
12:21375238 SLCO1B1 G>A	12	21375238	21375238	G	A	SLCO1B1	c.1687G>A	NM_006446.5	NP_006437.3:p.(Val563Ile)	NC_000012.11:g.21375238G>A	VUS	1 lab	bc5dc5449a
11:76858830 MYO7A C>T	11	76858830	76858830	C	T	MYO7A	c.133-14C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76858830C>T	(Likely) benign	1 lab	bc62ec44ac
7:33573589 BBS9 C>T	7	33573589	33573589	C	T	BBS9	c.2322C>T	NM_198428.3	NP_940820.1:p.(Ala774=)	NC_000007.13:g.33573589C>T	(Likely) benign	1 lab	bc65c9c45c
19:11216080 LDLR C>T	19	11216080	11216080	C	T	LDLR	c.498C>T	NM_000527.5	NP_000518.1:p.(Ala166=)	NC_000019.9:g.11216080C>T	(Likely) benign	1 lab	bc6912e10a
16:1005033 LMF1 A>C	16	1005033	1005033	A	C	LMF1	c.-361-367T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005033A>C	VUS	1 lab	bc704c0671
1:74930381 TNNI3K A>G	1	74930381	74930381	A	G	TNNI3K	c.2121+1147A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74930381A>G	(Likely) benign	1 lab	bc71095ef1
17:78184551 SGSH G>A	17	78184551	78184551	G	A	SGSH	c.1209C>T	NM_000199.5	NP_000190.1:p.(Tyr403=)	NC_000017.10:g.78184551G>A	(Likely) benign	1 lab	bc73f7fd9b
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	bc74adedc0
8:19809306 LPL G>A	8	19809306	19809306	G	A	LPL	c.276G>A	NM_000237.3	NP_000228.1:p.(Val92=)	NC_000008.10:g.19809306G>A	(Likely) benign	1 lab	bc758b4f66
17:36485093 GPR179 C>G	17	36485093	36485093	C	G	GPR179	c.4359G>C	NM_001004334.4	NP_001004334.3:p.(Gly1453=)	NC_000017.10:g.36485093C>G	(Likely) benign	1 lab	bc7a05aa7c
7:128478133 FLNC G>GC	7	128478133	128478139	G	GC	FLNC	c.1047+21dup	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478139dup	(Likely) benign	1 lab	bc7b10453d
19:11211208 LDLR G>A	19	11211208	11211208	G	A	LDLR	c.190+187G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211208G>A	(Likely) benign	1 lab	bc7b2bd63d
2:167082978 SCN9A T>C	2	167082978	167082978	T	C	SCN9A	c.4365+99A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167082978T>C	(Likely) benign	1 lab	bc7b957df5
1:3348622 PRDM16 C>G	1	3348622	3348622	C	G	PRDM16	c.3614C>G	NM_022114.4	NP_071397.3:p.(Ala1205Gly)	NC_000001.10:g.3348622C>G	VUS	1 lab	bc7e793e1e
16:1004431 LMF1 C>T	16	1004431	1004431	C	T	LMF1	c.102G>A	NM_001352019.2	NP_001338948.1:p.(Thr34=)	NC_000016.9:g.1004431C>T	(Likely) benign	1 lab	bc7ebb75e6
15:58837957 LIPC A>G	15	58837957	58837957	A	G	LIPC	c.591A>G	NM_000236.3	NP_000227.2:p.(Gly197=)	NC_000015.9:g.58837957A>G	(Likely) benign	1 lab	bc7fce2b40
12:124298030 DNAH10 G>A	12	124298030	124298030	G	A	DNAH10	c.3110G>A	NM_207437.3	NP_997320.2:p.(Arg1037His)	NC_000012.11:g.124298030G>A	(Likely) benign	1 lab	bc81b85617
16:57007312 CETP G>A	16	57007312	57007312	G	A	CETP	c.820G>A	NM_000078.3	NP_000069.2:p.(Asp274Asn)	NC_000016.9:g.57007312G>A	VUS	1 lab	bc8254202f
17:48431032 XYLT2 G>A	17	48431032	48431032	G	A	XYLT2	c.177G>A	NM_022167.4	NP_071450.2:p.(Glu59=)	NC_000017.10:g.48431032G>A	(Likely) benign	1 lab	bc8257fd53
2:220504383 SLC4A3 C>T	2	220504383	220504383	C	T	SLC4A3	c.3284C>T	NM_001326559.2	NP_001313488.2:p.(Ala1095Val)	NC_000002.11:g.220504383C>T	VUS	1 lab	bc83a3df58
14:75506549 MLH3 CATATATATATATATATAT>C	14	75506549	75506585	CATATATATATATATATAT	C	MLH3	c.3570+47_3570+64del	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506568_75506585del	(Likely) benign	1 lab	bc862aebdf
18:34233356 FHOD3 C>G	18	34233356	34233356	C	G	FHOD3	c.1698C>G	NM_001281740.3	NP_001268669.1:p.(His566Gln)	NC_000018.9:g.34233356C>G	(Likely) benign	1 lab	bc87316390
X:144122840 MISSING G>Alt too long to show for this DUP	X	144122840	144495553	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.144122842_144495553dup	VUS	1 lab	bc8acc8f57
1:147230849 GJA5 GC>G	1	147230849	147230852	GC	G	GJA5	c.497del	NM_005266.7	NP_005257.2:p.(Gly166AlafsTer14)	NC_000001.10:g.147230852del	VUS	1 lab	bc8e9ea29b
1:145425394 MISSING Ref too long to show for this DEL>A	1	145425394	145747269	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.145425395_145747269del	(Likely) pathogenic	1 lab	bc90c03f71
8:21983124 HR C>T	8	21983124	21983124	C	T	HR	c.1527G>A	NM_005144.5	NP_005135.2:p.(Gly509=)	NC_000008.10:g.21983124C>T	(Likely) benign	1 lab	bc94b41f84
1:89522646 GBP1 G>C	1	89522646	89522646	G	C	GBP1	c.1046C>G	NM_002053.3	NP_002044.2:p.(Thr349Ser)	NC_000001.10:g.89522646G>C	(Likely) benign	1 lab	bc94d3dd60
1:235599905 TBCE C>T	1	235599905	235599905	C	T	TBCE	c.1098C>T	NM_001287801.2	NP_001274730.1:p.(Asn366=)	NC_000001.10:g.235599905C>T	VUS	1 lab	bc9536e94e
1:236900597 ACTN2 G>GTATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATA	(Likely) benign	1 lab	bc96568500
3:170201135 SLC7A14 A>T	3	170201135	170201135	A	T	SLC7A14	c.1083T>A	NM_020949.3	NP_066000.2:p.(Ile361=)	NC_000003.11:g.170201135A>T	(Likely) benign	1 lab	bc98495f4b
15:44955818 SPG11 C>T	15	44955818	44955818	C	T	SPG11	c.28G>A	NM_025137.4	NP_079413.3:p.(Ala10Thr)	NC_000015.9:g.44955818C>T	VUS	1 lab	bc98ea4ec9
1:3328826 PRDM16 G>A	1	3328826	3328826	G	A	PRDM16	c.2065G>A	NM_022114.4	NP_071397.3:p.(Ala689Thr)	NC_000001.10:g.3328826G>A	VUS	1 lab	bc9914e293
1:211847847 NEK2 A>G	1	211847847	211847847	A	G	NEK2	c.105T>C	NM_002497.4	NP_002488.1:p.(Val35=)	NC_000001.10:g.211847847A>G	(Likely) benign	1 lab	bc99b2e5cc
6:16145509 MYLIP C>T	6	16145509	16145509	C	T	MYLIP	c.1209C>T	NM_013262.4	NP_037394.2:p.(Gly403=)	NC_000006.11:g.16145509C>T	(Likely) benign	1 lab	bc9b12089b
2:179528832 TTN A>C	2	179528832	179528832	A	C	TTN	c.36281-7T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528832A>C	VUS	1 lab	bc9c742dc9
9:34372347 MYORG G>T	9	34372347	34372347	G	T	MYORG	c.595C>A	NM_020702.5	NP_065753.2:p.(Arg199Ser)	NC_000009.11:g.34372347G>T	(Likely) benign	1 lab	bc9ed1b316
3:38936460 SCN11A G>T	3	38936460	38936460	G	T	SCN11A	c.2404-5C>A	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38936460G>T	(Likely) benign	1 lab	bc9fab09e6
X:33038331 DMD T>C	X	33038331	33038331	T	C	DMD	c.32-14A>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.33038331T>C	(Likely) benign	1 lab	bd49b4eff1
15:58833703 LIPC G>A	15	58833703	58833703	G	A	LIPC	c.274-281G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58833703G>A	(Likely) benign	1 lab	bca66a7aeb
7:154519527 DPP6 G>A	7	154519527	154519527	G	A	DPP6	c.813G>A	NM_130797.4	NP_570629.2:p.(Gln271=)	NC_000007.13:g.154519527G>A	(Likely) benign	1 lab	bca676d210
X:70443588 GJB1 A>G	X	70443588	70443588	A	G	GJB1	c.31A>G	NM_000166.6	NP_000157.1:p.(Ser11Gly)	NC_000023.10:g.70443588A>G	(Likely) pathogenic	1 lab	bca7be8b22
1:236908181 ACTN2 G>A	1	236908181	236908181	G	A	ACTN2	c.1406+105G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236908181G>A	(Likely) benign	1 lab	bcaa37420e
7:128641226 TNPO3 G>C	7	128641226	128641226	G	C	TNPO3	c.759C>G	NM_012470.4	NP_036602.1:p.(Leu253=)	NC_000007.13:g.128641226G>C	(Likely) benign	1 lab	bcac28ae37
2:145147049 ZEB2 TG>T	2	145147049	145147051	TG	T	ZEB2	c.3613del	NM_014795.4	NP_055610.1:p.(His1205ThrfsTer36)	NC_000002.11:g.145147051del	(Likely) pathogenic	1 lab	bcae940ce0
2:179255796 OSBPL6 C>T	2	179255796	179255796	C	T	OSBPL6	c.2377-4C>T	NM_001201480.2	NP_001188409.1:p.?	NC_000002.11:g.179255796C>T	(Likely) benign	1 lab	bcaf25dd3a
14:23897811 MYH7 G>A	14	23897811	23897811	G	A	MYH7	c.1476C>T	NM_000257.4	NP_000248.2:p.(His492=)	NC_000014.8:g.23897811G>A	(Likely) benign	1 lab	bcafc280ca
2:44099452 ABCG8 A>T	2	44099452	44099452	A	T	ABCG8	c.1211+7A>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099452A>T	(Likely) benign	1 lab	bcb359cb39
17:8192117 SLC25A35 C>G	17	8192117	8192117	C	G	SLC25A35	c.*817G>C	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192117C>G	(Likely) benign	1 lab	bd86e907df
2:179404427 TTN T>G	2	179404427	179404427	T	G	TTN	c.98365A>C	NM_001267550.2	NP_001254479.2:p.(Lys32789Gln)	NC_000002.11:g.179404427T>G	VUS	1 lab	bcb3aa9250
3:38991571 SCN11A C>G	3	38991571	38991571	C	G	SCN11A	c.267+16G>C	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991571C>G	(Likely) benign	1 lab	bcb95918fe
18:47091868 LIPG G>T	18	47091868	47091868	G	T	LIPG	c.279G>T	NM_006033.4	NP_006024.1:p.(Thr93=)	NC_000018.9:g.47091868G>T	VUS	1 lab	bcbd82cd88
3:14172439 TMEM43 G>A	3	14172439	14172439	G	A	TMEM43	c.280G>A	NM_024334.3	NP_077310.1:p.(Ala94Thr)	NC_000003.11:g.14172439G>A	VUS	1 lab	bcbfb6c109
6:126075709 HEY2 AT>A	6	126075709	126075724	AT	A	HEY2	c.328+32del	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075724del	(Likely) benign	1 lab	bcc0d053a9
2:116393700 DPP10 Ref too long to show for this DEL>A	2	116393700	116568556	Ref too long to show for this DEL	A	DPP10	c.442-53562_1701-3813del	NM_020868.6	NP_065919.3:p.?	NC_000002.11:g.116393701_116568556del	VUS	1 lab	bcc3a31b02
7:94038614 COL1A2 G>T	7	94038614	94038614	G	T	COL1A2	c.793-20G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94038614G>T	(Likely) benign	1 lab	bcc507cad5
9:107550823 ABCA1 G>A	9	107550823	107550823	G	A	ABCA1	c.5953C>T	NM_005502.4	NP_005493.2:p.(His1985Tyr)	NC_000009.11:g.107550823G>A	VUS	1 lab	bcc865ae80
20:42788517 JPH2 C>A	20	42788517	42788517	C	A	JPH2	c.910G>T	NM_020433.5	NP_065166.2:p.(Gly304Cys)	NC_000020.10:g.42788517C>A	VUS	1 lab	bcc9963aa7
2:21232100 APOB A>G	2	21232100	21232100	A	G	APOB	c.7640T>C	NM_000384.3	NP_000375.3:p.(Val2547Ala)	NC_000002.11:g.21232100A>G	VUS	1 lab	bcc9c418f8
20:42744454 JPH2 T>C	20	42744454	42744454	T	C	JPH2	c.1861A>G	NM_020433.5	NP_065166.2:p.(Lys621Glu)	NC_000020.10:g.42744454T>C	VUS	1 lab	bccb64a389
6:7583505 DSP G>T	6	7583505	7583505	G	T	DSP	c.6010G>T	NM_004415.4	NP_004406.2:p.(Val2004Phe)	NC_000006.11:g.7583505G>T	VUS	1 lab	bcce2ae67c
3:154861284 MME A>G	3	154861284	154861284	A	G	MME	c.1241A>G	NM_007288.3	NP_009219.2:p.(Tyr414Cys)	NC_000003.11:g.154861284A>G	VUS	1 lab	bccfe39a27
6:16145503 MYLIP C>T	6	16145503	16145503	C	T	MYLIP	c.1203C>T	NM_013262.4	NP_037394.2:p.(Pro401=)	NC_000006.11:g.16145503C>T	(Likely) benign	1 lab	bcd0e110c2
17:1557063 PRPF8 G>A	17	1557063	1557063	G	A	PRPF8	c.6227+8C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1557063G>A	(Likely) benign	1 lab	bcd2e4b83b
4:155665552 LRAT T>A	4	155665552	155665552	T	A	LRAT	c.74T>A	NM_004744.5	NP_004735.2:p.(Phe25Tyr)	NC_000004.11:g.155665552T>A	(Likely) benign	1 lab	bcd2f21b4a
X:18162506 MISSING Ref too long to show for this DEL>A	X	18162506	18560391	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.18162509_18560391del	(Likely) pathogenic	1 lab	bcd9764133
1:89721190 GBP5 T>Alt too long to show for this DUP	1	89721190	89733648	T	Alt too long to show for this DUP	GBP5				NC_000001.10:g.89721192_89733648dup	VUS	1 lab	bcd98e34d7
9:12695619 TYRP1 A>G	9	12695619	12695619	A	G	TYRP1	c.490A>G	NM_000550.3	NP_000541.1:p.(Arg164Gly)	NC_000009.11:g.12695619A>G	VUS	1 lab	bcd99624c4
X:101096501 NXF5 C>T	X	101096501	101096501	C	T	NXF5	n.630G>A	NR_028089.1		NC_000023.10:g.101096501C>T	(Likely) benign	1 lab	bcdd506fd2
20:31022281 ASXL1 C>G	20	31022281	31022281	C	G	ASXL1	c.1766C>G	NM_015338.6	NP_056153.2:p.(Pro589Arg)	NC_000020.10:g.31022281C>G	VUS	1 lab	bce065c0f3
20:6091016 FERMT1 G>T	20	6091016	6091016	G	T	FERMT1	c.675C>A	NM_017671.5	NP_060141.3:p.(Pro225=)	NC_000020.10:g.6091016G>T	(Likely) benign	1 lab	bce0d62692
6:21323817 MISSING Ref too long to show for this DEL>C	6	21323817	25416824	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.21323818_25416824del	(Likely) pathogenic	1 lab	bce709c6d3
15:85400254 ALPK3 G>T	15	85400254	85400254	G	T	ALPK3	c.2285G>T	NM_020778.5	NP_065829.4:p.(Gly762Val)	NC_000015.9:g.85400254G>T	VUS	1 lab	bce84d6741
22:41916180 ACO2 G>A	22	41916180	41916180	G	A	ACO2	c.1038G>A	NM_001098.3	NP_001089.1:p.(Lys346=)	NC_000022.10:g.41916180G>A	(Likely) benign	1 lab	bcefe5eaa2
12:48383056 COL2A1 G>A	12	48383056	48383056	G	A	COL2A1	c.1077C>T	NM_001844.5	NP_001835.3:p.(Val359=)	NC_000012.11:g.48383056G>A	(Likely) benign	1 lab	bcf05aeb18
16:28880620 SH2B1 C>T	16	28880620	28880620	C	T	SH2B1	c.1225C>T	NM_001145795.2	NP_001139267.1:p.(Leu409=)	NC_000016.9:g.28880620C>T	(Likely) benign	1 lab	bcf4b4397e
13:32971033 BRCA2 A>T	13	32971033	32971033	A	T	BRCA2	c.9502-2A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32971033A>T	(Likely) pathogenic	1 lab	bcf8500524
1:215916601 USH2A G>A	1	215916601	215916601	G	A	USH2A	c.11466C>T	NM_206933.4	NP_996816.3:p.(Ser3822=)	NC_000001.10:g.215916601G>A	(Likely) benign	1 lab	bd0251f330
1:205743943 RAB29 A>C	1	205743943	205743943	A	C	RAB29	c.124+18T>G	NM_001135663.2	NP_001129135.1:p.?	NC_000001.10:g.205743943A>C	(Likely) benign	1 lab	bd0423cbe6
6:73017031 RIMS1 G>T	6	73017031	73017031	G	T	RIMS1	c.3921G>T	NM_014989.6	NP_055804.2:p.(Gly1307=)	NC_000006.11:g.73017031G>T	(Likely) benign	1 lab	bd054d094a
2:179438501 TTN G>C	2	179438501	179438501	G	C	TTN	c.72358C>G	NM_001267550.2	NP_001254479.2:p.(Leu24120Val)	NC_000002.11:g.179438501G>C	VUS	1 lab	bd08ea12f5
15:41134165 MISSING C>Alt too long to show for this DUP	15	41134165	41214595	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.41134166_41214595dup	VUS	1 lab	bd0a134dd5
1:156837949 NTRK1 G>A	1	156837949	156837949	G	A	NTRK1	c.482G>A	NM_002529.4	NP_002520.2:p.(Arg161His)	NC_000001.10:g.156837949G>A	VUS	1 lab	bd0b966f9f
17:48273890 COL1A1 C>T	17	48273890	48273890	C	T	COL1A1	c.859-1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273890C>T	(Likely) pathogenic	1 lab	bd1278fb72
16:67974133 LCAT C>T	16	67974133	67974133	C	T	LCAT	c.997G>A	NM_000229.2	NP_000220.1:p.(Val333Met)	NC_000016.9:g.67974133C>T	(Likely) pathogenic	1 lab	bd1568bc4d
11:129800930 PRDM10 C>T	11	129800930	129800930	C	T	PRDM10	c.1511G>A	NM_020228.3	NP_064613.2:p.(Arg504His)	NC_000011.9:g.129800930C>T	VUS	1 lab	bd22823350
1:151377740 POGZ A>C	1	151377740	151377740	A	C	POGZ	c.3771T>G	NM_015100.4	NP_055915.2:p.(Cys1257Trp)	NC_000001.10:g.151377740A>C	VUS	1 lab	bd246e2c02
11:47370478 MYBPC3 T>TATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATA	(Likely) benign	1 lab	bd24bd49f4
15:64454221 PPIB C>A	15	64454221	64454221	C	A	PPIB	c.249+19G>T	NM_000942.5	NP_000933.1:p.?	NC_000015.9:g.64454221C>A	(Likely) benign	1 lab	bd29d985ab
7:150655393 KCNH2 C>G	7	150655393	150655393	C	G	KCNH2	c.670G>C	NM_000238.4	NP_000229.1:p.(Gly224Arg)	NC_000007.13:g.150655393C>G	VUS	1 lab	bd2b94194d
15:30913598 MISSING Ref too long to show for this DEL>T	15	30913598	32915723	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30913599_32915723del	(Likely) pathogenic	1 lab	bd2d7ec5a2
13:113158965 TUBGCP3 T>G	13	113158965	113158965	T	G	TUBGCP3	c.2150A>C	NM_006322.6	NP_006313.1:p.(Gln717Pro)	NC_000013.10:g.113158965T>G	VUS	1 lab	bd2f8c8955
9:135203017 SETX C>T	9	135203017	135203017	C	T	SETX	c.3968G>A	NM_015046.7	NP_055861.3:p.(Arg1323Gln)	NC_000009.11:g.135203017C>T	(Likely) benign	1 lab	bd3100c4d6
2:179451547 TTN CAT>C	2	179451547	179451550	CAT	C	TTN	c.64094-15_64094-14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179451549_179451550del	(Likely) benign	1 lab	bd31bce604
8:19813548 LPL AAG>A	8	19813548	19813550	AAG	A	LPL	c.973_974del	NM_000237.3	NP_000228.1:p.(Ser325GlnfsTer28)	NC_000008.10:g.19813549_19813550del	(Likely) pathogenic	1 lab	bd32df7a88
5:140057501 HARS1 G>A	5	140057501	140057501	G	A	HARS1	c.622C>T	NM_002109.6	NP_002100.2:p.(Leu208=)	NC_000005.9:g.140057501G>A	(Likely) benign	1 lab	bd3376916b
2:219677363 CYP27A1 G>T	2	219677363	219677363	G	T	CYP27A1	c.735G>T	NM_000784.4	NP_000775.1:p.(Gly245=)	NC_000002.11:g.219677363G>T	(Likely) benign	1 lab	bd370f97b3
6:123673722 TRDN C>T	6	123673722	123673722	C	T	TRDN	c.1331G>A	NM_006073.4	NP_006064.2:p.(Gly444Glu)	NC_000006.11:g.123673722C>T	VUS	1 lab	bd375d5682
19:17091335 CPAMD8 C>T	19	17091335	17091335	C	T	CPAMD8	c.1557G>A	NM_015692.5	NP_056507.3:p.(Pro519=)	NC_000019.9:g.17091335C>T	(Likely) benign	1 lab	bd393dcfa6
6:56397220 DST G>A	6	56397220	56397220	G	A	DST	c.10673C>T	NM_001144769.5	NP_001138241.1:p.(Ala3558Val)	NC_000006.11:g.56397220G>A	(Likely) benign	1 lab	bd3a1b28f6
19:2251386 AMH G>A	19	2251386	2251386	G	A	AMH	c.1113G>A	NM_000479.5	NP_000470.3:p.(Trp371Ter)	NC_000019.9:g.2251386G>A	(Likely) pathogenic	1 lab	bd3ae7af05
7:128490136 FLNC G>A	7	128490136	128490136	G	A	FLNC	c.5298+8G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490136G>A	(Likely) benign	1 lab	bd3db9cbd9
19:36216154 KMT2B G>A	19	36216154	36216154	G	A	KMT2B	c.3562G>A	NM_014727.3	NP_055542.1:p.(Gly1188Arg)	NC_000019.9:g.36216154G>A	VUS	1 lab	bd430a7c6d
2:179583615 TTN G>T	2	179583615	179583615	G	T	TTN	c.24312C>A	NM_001267550.2	NP_001254479.2:p.(Thr8104=)	NC_000002.11:g.179583615G>T	(Likely) benign	1 lab	bd45d8c439
2:49190162 FSHR G>T	2	49190162	49190162	G	T	FSHR	c.1798C>A	NM_000145.4	NP_000136.2:p.(Pro600Thr)	NC_000002.11:g.49190162G>T	(Likely) pathogenic	1 lab	bd464f0d4c
22:39621797 PDGFB G>T	22	39621797	39621797	G	T	PDGFB	c.657C>A	NM_002608.4	NP_002599.1:p.(Pro219=)	NC_000022.10:g.39621797G>T	(Likely) benign	1 lab	bd48a40beb
8:132010908 ADCY8 Ref too long to show for this DEL>G	8	132010908	132021232	Ref too long to show for this DEL	G	ADCY8	c.961-18444_961-8121del	NM_001115.3	NP_001106.1:p.?	NC_000008.10:g.132010909_132021232del	VUS	1 lab	bd503f2d24
2:179639850 TTN ACATT>A	2	179639850	179639856	ACATT	A	TTN	c.6584_6587del	NM_133378.4	NP_596869.4:p.(Glu2195ValfsTer10)	NC_000002.11:g.179639853_179639856del	(Likely) pathogenic	1 lab	bd516a6f4f
X:147106385 FMR1NB C>T	X	147106385	147106385	C	T	FMR1NB	c.633C>T	NM_152578.3	NP_689791.1:p.(Ser211=)	NC_000023.10:g.147106385C>T	(Likely) benign	1 lab	bd54a6bbb4
4:74279184 ALB T>C	4	74279184	74279184	T	C	ALB	c.891T>C	NM_000477.7	NP_000468.1:p.(Ser297=)	NC_000004.11:g.74279184T>C	(Likely) benign	1 lab	bd55ad7da1
14:81652974 GTF2A1 C>Alt too long to show for this DUP	14	81652974	81669544	C	Alt too long to show for this DUP	GTF2A1	c.337+700_934-1011dup	NM_015859.4	NP_056943.1:p.?	NC_000014.8:g.81652975_81669544dup	VUS	1 lab	bd576ad806
1:39801469 MACF1 A>G	1	39801469	39801469	A	G	MACF1	c.4629+8444A>G	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39801469A>G	(Likely) benign	1 lab	bd5e4bc0b4
5:90041600 ADGRV1 T>G	5	90041600	90041600	T	G	ADGRV1	c.10962T>G	NM_032119.4	NP_115495.3:p.(Val3654=)	NC_000005.9:g.90041600T>G	(Likely) benign	1 lab	bd617f7f3c
8:72184079 EYA1 G>A	8	72184079	72184079	G	A	EYA1	c.880C>T	NM_001370335.1	NP_001357264.1:p.(Arg294Ter)	NC_000008.10:g.72184079G>A	(Likely) pathogenic	1 lab	bd61b2a0e5
11:12951705 TEAD1 C>T	11	12951705	12951705	C	T	TEAD1	c.1015-16C>T	NM_021961.6	NP_068780.2:p.?	NC_000011.9:g.12951705C>T	(Likely) benign	1 lab	bd6240a595
15:58834020 LIPC G>C	15	58834020	58834020	G	C	LIPC	c.310G>C	NM_000236.3	NP_000227.2:p.(Val104Leu)	NC_000015.9:g.58834020G>C	VUS	1 lab	bd62fd9aee
11:116660906 APOA5 G>T	11	116660906	116660906	G	T	APOA5	c.1039C>A	NM_052968.5	NP_443200.2:p.(Leu347Met)	NC_000011.9:g.116660906G>T	VUS	1 lab	bd65078b52
19:16593388 CALR3 C>T	19	16593388	16593388	C	T	CALR3	c.791G>A	NM_145046.5	NP_659483.2:p.(Gly264Asp)	NC_000019.9:g.16593388C>T	VUS	1 lab	bd6675fdbf
10:69948722 MYPN C>T	10	69948722	69948722	C	T	MYPN	c.2764C>T	NM_032578.4	NP_115967.2:p.(Arg922Cys)	NC_000010.10:g.69948722C>T	VUS	1 lab	bd66b76294
2:179611843 TTN T>A	2	179611843	179611843	T	A	TTN	c.15284A>T	NM_133379.5	NP_596870.2:p.(Tyr5095Phe)	NC_000002.11:g.179611843T>A	(Likely) benign	1 lab	bd69d879d2
5:127611715 FBN2 A>T	5	127611715	127611715	A	T	FBN2	c.7594+15T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127611715A>T	(Likely) benign	1 lab	bd69ebd271
11:89028517 TYR T>A	11	89028517	89028517	T	A	TYR	c.1573T>A	NM_000372.5	NP_000363.1:p.(Tyr525Asn)	NC_000011.9:g.89028517T>A	VUS	1 lab	bd6a1132ce
2:21226047 APOB C>T	2	21226047	21226047	C	T	APOB	c.12247G>A	NM_000384.3	NP_000375.3:p.(Asp4083Asn)	NC_000002.11:g.21226047C>T	VUS	1 lab	bd6f053a31
11:819748 PNPLA2 C>T	11	819748	819748	C	T	PNPLA2	c.30C>T	NM_020376.4	NP_065109.1:p.(Ile10=)	NC_000011.9:g.819748C>T	(Likely) benign	1 lab	bd709cf939
16:929542 LMF1 C>T	16	929542	929542	C	T	LMF1	c.498+28G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929542C>T	(Likely) benign	1 lab	bd73a20b99
12:122246240 SETD1B C>T	12	122246240	122246240	C	T	SETD1B	c.657+14C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122246240C>T	(Likely) benign	1 lab	bd793f4751
11:90404557 MISSING Ref too long to show for this DEL>G	11	90404557	90845639	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.90404559_90845639del	VUS	1 lab	bd7b1a382c
6:28876751 MISSING Ref too long to show for this DEL>T	6	28876751	28894316	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.28876754_28894316del	VUS	1 lab	bd7b92a4f7
2:21224895 APOB C>T	2	21224895	21224895	C	T	APOB	c.13399G>A	NM_000384.3	NP_000375.3:p.(Ala4467Thr)	NC_000002.11:g.21224895C>T	(Likely) benign	1 lab	bd81ea82af
3:38622661 SCN5A C>T	3	38622661	38622661	C	T	SCN5A	c.2989G>A	NM_198056.3	NP_932173.1:p.(Ala997Thr)	NC_000003.11:g.38622661C>T	VUS	1 lab	bd839e3f29
9:107554069 ABCA1 C>T	9	107554069	107554069	C	T	ABCA1	c.5820+148G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554069C>T	(Likely) benign	1 lab	bd849aa9b5
10:62021659 ANK3 C>T	10	62021659	62021659	C	T	ANK3	c.756G>A	NM_020987.5	NP_066267.2:p.(Thr252=)	NC_000010.10:g.62021659C>T	(Likely) benign	1 lab	bd8a348598
13:32899248 BRCA2 C>T	13	32899248	32899248	C	T	BRCA2	c.352C>T	NM_000059.4	NP_000050.3:p.(Arg118Cys)	NC_000013.10:g.32899248C>T	(Likely) benign	1 lab	bd973dd51d
9:107566515 ABCA1 C>CA	9	107566515	107566516	C	CA	ABCA1	c.4559+391dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107566516dup	(Likely) benign	1 lab	bd9963ab27
12:124415116 DNAH10 T>C	12	124415116	124415116	T	C	DNAH10	c.12426T>C	NM_207437.3	NP_997320.2:p.(Phe4142=)	NC_000012.11:g.124415116T>C	(Likely) benign	1 lab	bd9acd9371
7:150649806 KCNH2 C>A	7	150649806	150649806	C	A	KCNH2	c.1264G>T	NM_000238.4	NP_000229.1:p.(Ala422Ser)	NC_000007.13:g.150649806C>A	(Likely) pathogenic	1 lab	bd9de66853
7:150648685 KCNH2 C>T	7	150648685	150648685	C	T	KCNH2	c.1796G>A	NM_000238.4	NP_000229.1:p.(Ser599Asn)	NC_000007.13:g.150648685C>T	VUS	1 lab	bda05f2ed6
2:44053537 ABCG5 C>T	2	44053537	44053537	C	T	ABCG5	c.758G>A	NM_022436.3	NP_071881.1:p.(Arg253His)	NC_000002.11:g.44053537C>T	VUS	1 lab	bda4bdd78d
1:8384575 SLC45A1 G>C	1	8384575	8384575	G	C	SLC45A1	c.186G>C	NM_001080397.3	NP_001073866.3:p.(Pro62=)	NC_000001.10:g.8384575G>C	(Likely) benign	1 lab	bda57c694f
16:67976612 LCAT G>A	16	67976612	67976612	G	A	LCAT	c.485C>T	NM_000229.2	NP_000220.1:p.(Thr162Ile)	NC_000016.9:g.67976612G>A	VUS	1 lab	bda6970f26
16:54317628 IRX3 G>A	16	54317628	54317628	G	A	IRX3	c.1476C>T	NM_024336.3	NP_077312.2:p.(Ala492=)	NC_000016.9:g.54317628G>A	(Likely) benign	1 lab	bda8a37ee6
21:34953703 DONSON T>TA	21	34953703	34953704	T	TA	DONSON	c.1254dup	NM_017613.4	NP_060083.1:p.(Lys419Ter)	NC_000021.8:g.34953704dup	(Likely) pathogenic	1 lab	bda8fb6395
11:34937074 PDHX C>Alt too long to show for this DUP	11	34937074	34943747	C	Alt too long to show for this DUP	PDHX				NC_000011.9:g.34937076_34943747dup	VUS	1 lab	bdaa74fa29
9:86354663 GKAP1 TAA>T	9	86354663	86354678	TAA	T	GKAP1	c.1054-6_1054-5del	NM_025211.4	NP_079487.2:p.?	NC_000009.11:g.86354677_86354678del	(Likely) benign	1 lab	bdaac88ef4
12:57483115 NAB2 C>A	12	57483115	57483115	C	A	NAB2	c.61C>A	NM_005967.4	NP_005958.1:p.(Arg21=)	NC_000012.11:g.57483115C>A	(Likely) benign	1 lab	bdabca0a57
16:70211380 CLEC18C G>A	16	70211380	70211380	G	A	CLEC18C	c.453G>A	NM_173619.4	NP_775890.2:p.(Thr151=)	NC_000016.9:g.70211380G>A	(Likely) benign	1 lab	bdae562df4
19:50713658 MYH14 G>A	19	50713658	50713658	G	A	MYH14	c.36G>A	NM_001145809.2	NP_001139281.1:p.(Lys12=)	NC_000019.9:g.50713658G>A	(Likely) benign	1 lab	bdb07f0f8e
3:38640218 SCN5A G>A	3	38640218	38640218	G	A	SCN5A	c.2023+191C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38640218G>A	(Likely) benign	1 lab	bdb1cabd20
2:95542332 TEKT4 C>A	2	95542332	95542332	C	A	TEKT4	c.580C>A	NM_001286559.2	NP_001273488.1:p.(Leu194Ile)	NC_000002.11:g.95542332C>A	(Likely) benign	1 lab	bdb21543f0
14:64532206 SYNE2 C>G	14	64532206	64532206	C	G	SYNE2	c.10269C>G	NM_182914.3	NP_878918.2:p.(Ile3423Met)	NC_000014.8:g.64532206C>G	(Likely) benign	1 lab	bdb3ae5e25
11:75277634 SERPINH1 C>T	11	75277634	75277634	C	T	SERPINH1	c.240C>T	NM_001235.5	NP_001226.2:p.(Leu80=)	NC_000011.9:g.75277634C>T	(Likely) benign	1 lab	bdb40bcf8c
13:32930591 BRCA2 A>G	13	32930591	32930591	A	G	BRCA2	c.7462A>G	NM_000059.4	NP_000050.3:p.(Arg2488Gly)	NC_000013.10:g.32930591A>G	VUS	1 lab	bdb4a3aa25
12:21370040 SLCO1B1 C>T	12	21370040	21370040	C	T	SLCO1B1	c.1498-13C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370040C>T	(Likely) benign	1 lab	bdb58fe016
22:20732807 MISSING C>Alt too long to show for this DUP	22	20732807	21465660	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20732809_21465660dup	(Likely) pathogenic	1 lab	bdb88a6e58
4:2990374 GRK4 Ref too long to show for this DEL>A	4	2990374	3025531	Ref too long to show for this DEL	A	GRK4	c.149-79_970+1353del	NM_182982.3	NP_892027.2:p.?	NC_000004.11:g.2990375_3025531del	VUS	1 lab	bdbafac64f
20:36812704 MISSING T>Alt too long to show for this DUP	20	36812704	36852853	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.36812705_36852853dup	VUS	1 lab	bdbb650f7d
16:89985844 MC1R G>T	16	89985844	89985844	G	T	MC1R	c.178G>T	NM_002386.4	NP_002377.4:p.(Val60Leu)	NC_000016.9:g.89985844G>T	(Likely) benign	1 lab	bdbd36dbbf
8:19819627 LPL G>T	8	19819627	19819627	G	T	LPL	c.1324G>T	NM_000237.3	NP_000228.1:p.(Val442Leu)	NC_000008.10:g.19819627G>T	VUS	1 lab	bdbec11d23
3:24185030 THRB C>T	3	24185030	24185030	C	T	THRB	c.700G>A	NM_001354708.2	NP_001341637.1:p.(Ala234Thr)	NC_000003.11:g.24185030C>T	(Likely) pathogenic	1 lab	bdc373dcbc
16:56519629 BBS2 A>AT	16	56519629	56519630	A	AT	BBS2	c.1931dup	NM_031885.5	NP_114091.4:p.(Tyr644Ter)	NC_000016.9:g.56519630dup	(Likely) pathogenic	1 lab	bdc407bfbe
14:57268899 OTX2 T>C	14	57268899	57268899	T	C	OTX2	c.424A>G	NM_001270524.2	NP_001257453.1:p.(Ile142Val)	NC_000014.8:g.57268899T>C	VUS	1 lab	bdc45feed9
19:16593541 CALR3 C>CG	19	16593541	16593542	C	CG	CALR3	c.733_734insC	NM_145046.5	NP_659483.2:p.(Gly245AlafsTer2)	NC_000019.9:g.16593541_16593542insG	VUS	1 lab	bdc49a9684
12:21325648 SLCO1B1 G>C	12	21325648	21325648	G	C	SLCO1B1	c.149G>C	NM_006446.5	NP_006437.3:p.(Ser50Thr)	NC_000012.11:g.21325648G>C	(Likely) benign	1 lab	bdca95ddf3
1:55521701 PCSK9 C>A	1	55521701	55521701	C	A	PCSK9	c.835C>A	NM_174936.4	NP_777596.2:p.(Pro279Thr)	NC_000001.10:g.55521701C>A	(Likely) benign	1 lab	bdcb6d20d4
X:70338673 MED12 T>A	X	70338673	70338673	T	A	MED12	c.69T>A	NM_005120.3	NP_005111.2:p.(Asp23Glu)	NC_000023.10:g.70338673T>A	(Likely) benign	1 lab	bdcb9a3448
9:107651174 ABCA1 T>C	9	107651174	107651174	T	C	ABCA1	c.160+209A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651174T>C	(Likely) benign	1 lab	bdcbb5f0bc
11:18332296 HPS5 GT>G	11	18332296	18332299	GT	G	HPS5	c.468del	NM_181507.2	NP_852608.1:p.(Lys156AsnfsTer10)	NC_000011.9:g.18332299del	(Likely) pathogenic	1 lab	bdd0eb2746
7:29252162 CHN2 Ref too long to show for this DEL>A	7	29252162	29271063	Ref too long to show for this DEL	A	CHN2	c.49+17557_49+36457del	NM_004067.4	NP_004058.1:p.?	NC_000007.13:g.29252163_29271063del	VUS	1 lab	bdd1ad7334
2:44059207 ABCG5 G>C	2	44059207	44059207	G	C	ABCG5	c.281C>G	NM_022436.3	NP_071881.1:p.(Thr94Arg)	NC_000002.11:g.44059207G>C	VUS	1 lab	bdd1b27714
18:77440133 CTDP1 G>C	18	77440133	77440133	G	C	CTDP1	c.186G>C	NM_004715.5	NP_004706.3:p.(Gly62=)	NC_000018.9:g.77440133G>C	(Likely) benign	1 lab	bdd24f49b0
X:19311974 MISSING C>Alt too long to show for this DUP	X	19311974	19504858	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.19311977_19504858dup	VUS	1 lab	bdd37fe558
8:43033215 HGSNAT A>C	8	43033215	43033215	A	C	HGSNAT	c.852-2A>C	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43033215A>C	(Likely) pathogenic	1 lab	bdd47dff36
6:151596851 MISSING Ref too long to show for this DEL>A	6	151596851	151748906	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.151596853_151748906del	VUS	1 lab	bddab6b70b
16:88498241 ZNF469 C>G	16	88498241	88498241	C	G	ZNF469	c.4363C>G	NM_001367624.2	NP_001354553.1:p.(Leu1455Val)	NC_000016.9:g.88498241C>G	(Likely) benign	1 lab	bddb702961
7:590205 PRKAR1B C>T	7	590205	590205	C	T	PRKAR1B	c.1008G>A	NM_001164761.2	NP_001158233.1:p.(Ala336=)	NC_000007.13:g.590205C>T	(Likely) benign	1 lab	bddc556203
12:96132857 NTN4 Ref too long to show for this DEL>G	12	96132857	96157422	Ref too long to show for this DEL	G	NTN4	c.585+23296_586-936del	NM_021229.4	NP_067052.2:p.?	NC_000012.11:g.96132859_96157422del	VUS	1 lab	bdde62d39f
7:102279202 UPK3BL1 G>A	7	102279202	102279202	G	A	UPK3BL1	c.642C>T	NM_001114403.3	NP_001107875.1:p.(Ala214=)	NC_000007.13:g.102279202G>A	(Likely) benign	1 lab	bde0aea88d
1:156099669 LMNA T>G	1	156099669	156099669	T	G	LMNA	c.357-739T>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156099669T>G	(Likely) benign	1 lab	bde4b62ae6
6:100841619 SIM1 C>T	6	100841619	100841619	C	T	SIM1	c.1314G>A	NM_005068.3	NP_005059.2:p.(Gln438=)	NC_000006.11:g.100841619C>T	(Likely) benign	1 lab	bde4e09cda
4:100532222 MTTP AT>A	4	100532222	100532232	AT	A	MTTP	c.1770-68del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532232del	(Likely) benign	1 lab	bdec91b64b
2:179605679 TTN T>A	2	179605679	179605679	T	A	TTN	c.12281A>T	NM_001267550.2	NP_001254479.2:p.(Tyr4094Phe)	NC_000002.11:g.179605679T>A	VUS	1 lab	bdecb6033a
X:55172645 VCF2 C>T	X	55172645	55172645	C	T	VCF2	c.217G>A	NM_001166703.2	NP_001160175.1:p.(Asp73Asn)	NC_000023.10:g.55172645C>T	(Likely) benign	1 lab	bded1976a4
17:48276602 COL1A1 G>GGGTCCGGGA	17	48276602	48276619	G	GGGTCCGGGA	COL1A1	c.447_455dup	NM_000088.4	NP_000079.2:p.(Pro152_Gly154dup)	NC_000017.10:g.48276611_48276619dup	VUS	1 lab	bdf0c4f16e
9:137716447 COL5A1 G>GC	9	137716447	137716453	G	GC	COL5A1	c.4706dup	NM_000093.5	NP_000084.3:p.(Glu1571ArgfsTer53)	NC_000009.11:g.137716453dup	(Likely) pathogenic	1 lab	bdf1a6a556
5:59064174 PDE4D G>C	5	59064174	59064174	G	C	PDE4D	c.162C>G	NM_001197218.2	NP_001184147.1:p.(Leu54=)	NC_000005.9:g.59064174G>C	(Likely) benign	1 lab	bdf26531ed
19:16589983 CALR3 C>G	19	16589983	16589983	C	G	CALR3	c.1114G>C	NM_145046.5	NP_659483.2:p.(Glu372Gln)	NC_000019.9:g.16589983C>G	(Likely) benign	1 lab	bdf4e04fa5
16:23646742 PALB2 T>G	16	23646742	23646742	T	G	PALB2	c.1125A>C	NM_024675.4	NP_078951.2:p.(Leu375=)	NC_000016.9:g.23646742T>G	(Likely) benign	1 lab	bdf630015e
19:54629909 PRPF31 C>A	19	54629909	54629909	C	A	PRPF31	c.862C>A	NM_015629.4	NP_056444.3:p.(Arg288=)	NC_000019.9:g.54629909C>A	(Likely) benign	1 lab	bdf84d48c8
X:20194471 RPS6KA3 C>T	X	20194471	20194471	C	T	RPS6KA3	c.1000-1G>A	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20194471C>T	(Likely) pathogenic	1 lab	bdf982e768
17:41246130 BRCA1 T>A	17	41246130	41246130	T	A	BRCA1	c.1418A>T	NM_007294.4	NP_009225.1:p.(Asn473Ile)	NC_000017.10:g.41246130T>A	(Likely) benign	1 lab	bdfa7fae4b
1:66102691 LEPR CTG>C	1	66102691	66102696	CTG	C	LEPR	c.3495_3496del	NM_002303.6	NP_002294.2:p.(Ter1166IleextTer13)	NC_000001.10:g.66102695_66102696del	VUS	1 lab	bdfac13628
X:154110370 MISSING G>Alt too long to show for this DUP	X	154110370	154565719	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154110372_154565719dup	VUS	1 lab	bdfacc5d0b
2:179444006 TTN C>T	2	179444006	179444006	C	T	TTN	c.67751G>A	NM_001267550.2	NP_001254479.2:p.(Trp22584Ter)	NC_000002.11:g.179444006C>T	(Likely) pathogenic	1 lab	bdfb961737
6:32020950 TNXB G>A	6	32020950	32020950	G	A	TNXB	c.8786-180C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32020950G>A	(Likely) benign	1 lab	bdfe2fa205
6:110112658 FIG4 G>C	6	110112658	110112658	G	C	FIG4	c.2260G>C	NM_014845.6	NP_055660.1:p.(Val754Leu)	NC_000006.11:g.110112658G>C	VUS	1 lab	be06e93461
3:101039123 IMPG2 T>A	3	101039123	101039123	T	A	IMPG2	c.85+9A>T	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.101039123T>A	(Likely) benign	1 lab	be078e998d
2:179427186 TTN-AS1 A>G	2	179427186	179427186	A	G	TTN-AS1	n.2043+20098A>G	NR_038272.1		NC_000002.11:g.179427186A>G	(Likely) benign	1 lab	be08348a54
16:89346169 ANKRD11 C>T	16	89346169	89346169	C	T	ANKRD11	c.6781G>A	NM_013275.6	NP_037407.4:p.(Glu2261Lys)	NC_000016.9:g.89346169C>T	(Likely) benign	1 lab	be0d488da0
5:58489359 PDE4D G>A	5	58489359	58489359	G	A	PDE4D	c.651C>T	NM_001104631.2	NP_001098101.1:p.(His217=)	NC_000005.9:g.58489359G>A	(Likely) benign	1 lab	be0f2908b7
15:28211880 OCA2 T>C	15	28211880	28211880	T	C	OCA2	c.1592A>G	NM_000275.3	NP_000266.2:p.(Tyr531Cys)	NC_000015.9:g.28211880T>C	VUS	1 lab	be44df3b43
12:116413099 MED13L ATACTT>A	12	116413099	116413108	ATACTT	A	MED13L	c.5603_5607del	NM_015335.5	NP_056150.1:p.(Lys1868IlefsTer4)	NC_000012.11:g.116413104_116413108del	(Likely) pathogenic	1 lab	be11fc8313
11:18318545 HPS5 G>A	11	18318545	18318545	G	A	HPS5	c.1324-14C>T	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18318545G>A	(Likely) benign	1 lab	be123b9aee
7:45104157 CCM2 G>A	7	45104157	45104157	G	A	CCM2	c.384G>A	NM_001363458.2	NP_001350387.1:p.(Glu128=)	NC_000007.13:g.45104157G>A	(Likely) benign	1 lab	be137b5c3b
11:119216975 C1QTNF5 T>C	11	119216975	119216975	T	C	C1QTNF5	c.-2480+7A>G	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216975T>C	(Likely) benign	1 lab	be137d28d9
6:16141616 MYLIP G>A	6	16141616	16141616	G	A	MYLIP	c.279-240G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16141616G>A	(Likely) benign	1 lab	be14e83071
1:167606281 RCSD1 Ref too long to show for this DEL>G	1	167606281	167622119	Ref too long to show for this DEL	G	RCSD1	c.6+6616_6+22453del	NM_052862.4	NP_443094.3:p.?	NC_000001.10:g.167606282_167622119del	VUS	1 lab	be16e11619
10:33214802 ITGB1 A>G	10	33214802	33214802	A	G	ITGB1	c.783T>C	NM_002211.4	NP_002202.2:p.(Cys261=)	NC_000010.10:g.33214802A>G	(Likely) benign	1 lab	be17f4da39
16:29580019 MISSING Ref too long to show for this DEL>T	16	29580019	30177916	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29580020_30177916del	(Likely) pathogenic	1 lab	be181ff741
20:33657088 TRPC4AP T>C	20	33657088	33657088	T	C	TRPC4AP	c.414+11A>G	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33657088T>C	(Likely) benign	1 lab	be1b138f5c
16:75164011 MISSING Ref too long to show for this DEL>C	16	75164011	75189626	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.75164016_75189626del	VUS	1 lab	be1e3d379d
14:92438104 MISSING T>Alt too long to show for this DUP	14	92438104	92570346	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.92438105_92570346dup	VUS	1 lab	be2663dfaa
2:241700280 KIF1A C>T	2	241700280	241700280	C	T	KIF1A	c.2266-20G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241700280C>T	(Likely) benign	1 lab	be28ed3721
7:20825043 SP8 TGCG>T	7	20825043	20825063	TGCG	T	SP8	c.336_338del	NM_198956.4	NP_945194.1:p.(Ala116del)	NC_000007.13:g.20825061_20825063del	(Likely) benign	1 lab	be299dc4a3
9:137648930 COL5A1 A>G	9	137648930	137648930	A	G	COL5A1	c.1881+266A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137648930A>G	(Likely) benign	1 lab	be2a7eb6f7
12:21331621 SLCO1B1 A>G	12	21331621	21331621	A	G	SLCO1B1	c.593A>G	NM_006446.5	NP_006437.3:p.(Asp198Gly)	NC_000012.11:g.21331621A>G	VUS	1 lab	be2ea4e9e4
3:37494006 ITGA9 C>T	3	37494006	37494006	C	T	ITGA9	c.141C>T	NM_002207.3	NP_002198.2:p.(Phe47=)	NC_000003.11:g.37494006C>T	(Likely) benign	1 lab	be5f77ff84
9:126783452 LHX2 C>G	9	126783452	126783452	C	G	LHX2	c.802C>G	NM_004789.4	NP_004780.3:p.(Arg268Gly)	NC_000009.11:g.126783452C>G	(Likely) pathogenic	1 lab	be3413d89e
X:67414291 MISSING A>Alt too long to show for this DUP	X	67414291	67853371	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.67414292_67853371dup	VUS	1 lab	be376866c5
5:145529182 LARS1 T>C	5	145529182	145529182	T	C	LARS1	c.1503+3A>G	NM_020117.11	NP_064502.9:p.?	NC_000005.9:g.145529182T>C	VUS	1 lab	be3a21f5c5
17:40716103 COASY C>T	17	40716103	40716103	C	T	COASY	c.825C>T	NM_025233.7	NP_079509.5:p.(Pro275=)	NC_000017.10:g.40716103C>T	(Likely) benign	1 lab	be3badc860
15:30386398 MISSING Ref too long to show for this DEL>C	15	30386398	32444045	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.30386400_32444045del	(Likely) pathogenic	1 lab	be3c3558b6
X:70443969 GJB1 A>G	X	70443969	70443969	A	G	GJB1	c.412A>G	NM_000166.6	NP_000157.1:p.(Ser138Gly)	NC_000023.10:g.70443969A>G	VUS	1 lab	be3daed37e
8:144295782 GPIHBP1 G>T	8	144295782	144295782	G	T	GPIHBP1	c.138G>T	NM_178172.6	NP_835466.2:p.(Val46=)	NC_000008.10:g.144295782G>T	(Likely) benign	1 lab	be3dfed0bb
6:32032743 TNXB G>A	6	32032743	32032743	G	A	TNXB	c.6696C>T	NM_019105.8	NP_061978.6:p.(Asp2232=)	NC_000006.11:g.32032743G>A	(Likely) benign	1 lab	be3e58375c
8:41790653 KAT6A A>G	8	41790653	41790653	A	G	KAT6A	c.5085T>C	NM_006766.5	NP_006757.2:p.(Pro1695=)	NC_000008.10:g.41790653A>G	(Likely) benign	1 lab	be3e638e6d
11:47364832 MYBPC3 C>A	11	47364832	47364832	C	A	MYBPC3	c.1224-19G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364832C>A	(Likely) benign	1 lab	be4562b765
1:156104620 LMNA C>T	1	156104620	156104620	C	T	LMNA	c.664C>T	NM_170707.4	NP_733821.1:p.(His222Tyr)	NC_000001.10:g.156104620C>T	VUS	1 lab	be462e9a33
8:19818436 LPL C>A	8	19818436	19818436	C	A	LPL	c.1164C>A	NM_000237.3	NP_000228.1:p.(Thr388=)	NC_000008.10:g.19818436C>A	(Likely) benign	1 lab	be4a3c7505
6:169620519 THBS2 G>A	6	169620519	169620519	G	A	THBS2	c.3372-87C>T	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169620519G>A	(Likely) benign	1 lab	be4cfe6568
6:57081613 MISSING G>Alt too long to show for this DUP	6	57081613	57418910	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.57081614_57418910dup	VUS	1 lab	be4d3c708b
1:74905320 TNNI3K C>A	1	74905320	74905320	C	A	TNNI3K	c.2011+14C>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74905320C>A	(Likely) benign	1 lab	be4f617fd2
16:89337295 ANKRD11 C>T	16	89337295	89337295	C	T	ANKRD11	c.7736G>A	NM_001256182.2	NP_001243111.1:p.(Arg2579His)	NC_000016.9:g.89337295C>T	VUS	1 lab	be54a5abac
13:49050826 RB1 G>A	13	49050826	49050826	G	A	RB1	c.2521-11G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49050826G>A	(Likely) benign	1 lab	be55282b13
6:75840573 COL12A1 C>T	6	75840573	75840573	C	T	COL12A1	c.6062G>A	NM_004370.6	NP_004361.3:p.(Arg2021Gln)	NC_000006.11:g.75840573C>T	(Likely) benign	1 lab	be59006b6b
3:58094280 FLNB C>T	3	58094280	58094280	C	T	FLNB	c.2037C>T	NM_001164317.2	NP_001157789.1:p.(Pro679=)	NC_000003.11:g.58094280C>T	(Likely) benign	1 lab	be594ec0b1
3:123348211 MYLK C>T	3	123348211	123348211	C	T	MYLK	c.5114+110G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123348211C>T	(Likely) benign	1 lab	be5a3ca907
15:58853307 LIPC C>G	15	58853307	58853307	C	G	LIPC	c.1169+127C>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853307C>G	(Likely) benign	1 lab	be5b23f700
12:125266913 SCARB1 G>T	12	125266913	125266913	G	T	SCARB1	c.1530+316C>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125266913G>T	VUS	1 lab	be5b2edd30
13:41639425 WBP4 T>TAAAAAAAAA	13	41639425	41639446	T	TAAAAAAAAA	WBP4	c.262+15_262+23dup	NM_007187.5	NP_009118.1:p.?	NC_000013.10:g.41639438_41639446dup	(Likely) benign	1 lab	be60a2f347
19:11240229 LDLR G>A	19	11240229	11240229	G	A	LDLR	c.2430G>A	NM_000527.5	NP_000518.1:p.(Trp810Ter)	NC_000019.9:g.11240229G>A	(Likely) pathogenic	1 lab	be636e3d16
9:137688465 COL5A1 TG>T	9	137688465	137688467	TG	T	COL5A1	c.2844+203del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688467del	(Likely) benign	1 lab	be653bc730
19:11210992 LDLR A>C	19	11210992	11210992	A	C	LDLR	c.161A>C	NM_000527.5	NP_000518.1:p.(Asp54Ala)	NC_000019.9:g.11210992A>C	VUS	1 lab	be658457b1
2:96950905 SNRNP200 C>T	2	96950905	96950905	C	T	SNRNP200	c.4164+13G>A	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96950905C>T	(Likely) benign	1 lab	be65aca909
1:78383885 NEXN G>A	1	78383885	78383885	G	A	NEXN	c.374G>A	NM_144573.4	NP_653174.3:p.(Arg125Gln)	NC_000001.10:g.78383885G>A	VUS	1 lab	be6912b6df
2:179498603 TTN A>G	2	179498603	179498603	A	G	TTN	c.42623T>C	NM_001267550.2	NP_001254479.2:p.(Ile14208Thr)	NC_000002.11:g.179498603A>G	VUS	1 lab	be6922b372
X:153219750 HCFC1 G>A	X	153219750	153219750	G	A	HCFC1	c.4100C>T	NM_005334.3	NP_005325.2:p.(Thr1367Ile)	NC_000023.10:g.153219750G>A	VUS	1 lab	be6b4ccaab
17:42882280 GJC1 G>A	17	42882280	42882280	G	A	GJC1	c.906C>T	NM_005497.4	NP_005488.2:p.(Thr302=)	NC_000017.10:g.42882280G>A	(Likely) benign	1 lab	be6c1798ae
2:21250774 APOB T>A	2	21250774	21250774	T	A	APOB	c.1993A>T	NM_000384.3	NP_000375.3:p.(Asn665Tyr)	NC_000002.11:g.21250774T>A	(Likely) benign	1 lab	be6cc3f838
3:38592488 SCN5A T>A	3	38592488	38592488	T	A	SCN5A	c.5372A>T	NM_000335.5	NP_000326.2:p.(Asp1791Val)	NC_000003.11:g.38592488T>A	VUS	1 lab	be6fb3397c
1:211832061 NEK2 CAAAA>C	1	211832061	211832090	CAAAA	C	NEK2	c.1112-11_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832087_211832090del	(Likely) benign	1 lab	be72b042fc
16:1020866 LMF1 C>G	16	1020866	1020866	C	G	LMF1	c.115G>C	NM_022773.4	NP_073610.2:p.(Gly39Arg)	NC_000016.9:g.1020866C>G	VUS	1 lab	be7599fc31
11:68193268 LRP5 G>A	11	68193268	68193268	G	A	LRP5	c.3428-178G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68193268G>A	(Likely) benign	1 lab	be76f41bd8
11:1018225 MUC6 GTAGC>G	11	1018225	1018229	GTAGC	G	MUC6	c.4572_4575del	NM_005961.3	NP_005952.2:p.(Leu1525IlefsTer66)	NC_000011.9:g.1018226_1018229del	(Likely) benign	1 lab	be776791ee
12:163392 MISSING T>Alt too long to show for this DUP	12	163392	266007	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.163393_266007dup	VUS	1 lab	be7be63e23
1:74819785 TNNI3K G>A	1	74819785	74819785	G	A	TNNI3K	c.1149G>A	NM_015978.3	NP_057062.1:p.(Gln383=)	NC_000001.10:g.74819785G>A	(Likely) benign	1 lab	be7ecabeb0
16:23640616 PALB2 A>G	16	23640616	23640616	A	G	PALB2	c.2515-20T>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640616A>G	(Likely) benign	1 lab	be7fde93bd
19:11200074 LDLR C>G	19	11200074	11200074	C	G	LDLR				NC_000019.9:g.11200074C>G	VUS	1 lab	be80a1d730
12:57437119 MYO1A C>T	12	57437119	57437119	C	T	MYO1A	c.916G>A	NM_001256041.2	NP_001242970.1:p.(Val306Met)	NC_000012.11:g.57437119C>T	(Likely) benign	1 lab	be82c66e24
11:130780268 SNX19 TC>T	11	130780268	130780270	TC	T	SNX19	c.1814-4del	NM_014758.3	NP_055573.3:p.?	NC_000011.9:g.130780270del	(Likely) benign	1 lab	be839f45c9
19:36210994 KMT2B A>G	19	36210994	36210994	A	G	KMT2B	c.745A>G	NM_014727.3	NP_055542.1:p.(Lys249Glu)	NC_000019.9:g.36210994A>G	VUS	1 lab	be83add231
2:179433250 TTN A>G	2	179433250	179433250	A	G	TTN	c.77609T>C	NM_001267550.2	NP_001254479.2:p.(Ile25870Thr)	NC_000002.11:g.179433250A>G	VUS	1 lab	be8408f522
19:13346450 CACNA1A C>T	19	13346450	13346450	C	T	CACNA1A	c.5063G>A	NM_023035.3	NP_075461.2:p.(Trp1688Ter)	NC_000019.9:g.13346450C>T	(Likely) pathogenic	1 lab	be98c9198e
3:37059087 MLH1 T>C	3	37059087	37059087	T	C	MLH1	c.881T>C	NM_000249.4	NP_000240.1:p.(Leu294Pro)	NC_000003.11:g.37059087T>C	VUS	1 lab	be87e0424c
16:89346918 ANKRD11 G>T	16	89346918	89346918	G	T	ANKRD11	c.6032C>A	NM_001256182.2	NP_001243111.1:p.(Ser2011Ter)	NC_000016.9:g.89346918G>T	(Likely) pathogenic	1 lab	be88b41ca0
3:38739774 SCN10A G>T	3	38739774	38739774	G	T	SCN10A	c.4937C>A	NM_006514.4	NP_006505.4:p.(Thr1646Asn)	NC_000003.11:g.38739774G>T	VUS	1 lab	be8b43ec6e
4:126336851 FAT4 G>A	4	126336851	126336851	G	A	FAT4	c.6733G>A	NM_001291303.3	NP_001278232.1:p.(Val2245Ile)	NC_000004.11:g.126336851G>A	(Likely) benign	1 lab	be8ef3d695
6:137167333 PEX7 T>C	6	137167333	137167333	T	C	PEX7	c.526+14T>C	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137167333T>C	(Likely) benign	1 lab	be8f25676c
3:38627153 SCN5A G>GGT	3	38627153	38627164	G	GGT	SCN5A	c.2787+27_2787+28dup	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627163_38627164dup	(Likely) benign	1 lab	be919a34f3
15:48936673 FBN1 C>T	15	48936673	48936673	C	T	FBN1	c.164+130G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48936673C>T	(Likely) benign	1 lab	be91f3be61
11:108173674 ATM G>A	11	108173674	108173674	G	A	ATM	c.5414G>A	NM_000051.4	NP_000042.3:p.(Trp1805Ter)	NC_000011.9:g.108173674G>A	(Likely) pathogenic	1 lab	be95333720
15:48829825 FBN1 C>T	15	48829825	48829825	C	T	FBN1	c.719G>A	NM_000138.5	NP_000129.3:p.(Arg240His)	NC_000015.9:g.48829825C>T	VUS	1 lab	bf20f2a234
22:27003891 CRYBB1 G>A	22	27003891	27003891	G	A	CRYBB1	c.394C>T	NM_001887.4	NP_001878.1:p.(Arg132Cys)	NC_000022.10:g.27003891G>A	VUS	1 lab	be982f8a9d
10:75842257 VCL C>T	10	75842257	75842257	C	T	VCL	c.829C>T	NM_014000.3	NP_054706.1:p.(Leu277=)	NC_000010.10:g.75842257C>T	(Likely) benign	1 lab	be99ba8bde
2:44065000 ABCG5 G>T	2	44065000	44065000	G	T	ABCG5	c.238C>A	NM_022436.3	NP_071881.1:p.(Gln80Lys)	NC_000002.11:g.44065000G>T	VUS	1 lab	be9bae5140
5:127873281 FBN2 T>C	5	127873281	127873281	T	C	FBN2	c.16A>G	NM_001999.4	NP_001990.2:p.(Arg6Gly)	NC_000005.9:g.127873281T>C	VUS	1 lab	be9ca1e5fc
14:45645165 FANCM C>T	14	45645165	45645165	C	T	FANCM	c.3208C>T	NM_020937.4	NP_065988.1:p.(Pro1070Ser)	NC_000014.8:g.45645165C>T	(Likely) benign	1 lab	be9db4c25d
2:21230539 APOB C>A	2	21230539	21230539	C	A	APOB	c.9201G>T	NM_000384.3	NP_000375.3:p.(Lys3067Asn)	NC_000002.11:g.21230539C>A	VUS	1 lab	be9e0c4aeb
7:73468725 ELN G>A	7	73468725	73468725	G	A	ELN	c.1097-321G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73468725G>A	(Likely) benign	1 lab	be9e698ba8
1:147230695 GJA5 A>C	1	147230695	147230695	A	C	GJA5	c.652T>G	NM_005266.7	NP_005257.2:p.(Ser218Ala)	NC_000001.10:g.147230695A>C	VUS	1 lab	be9ec595f5
X:50650733 MISSING Ref too long to show for this DEL>G	X	50650733	50689654	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.50650734_50689654del	VUS	1 lab	beaa6c1efe
12:48368131 COL2A1 C>T	12	48368131	48368131	C	T	COL2A1	c.4075-17G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48368131C>T	(Likely) benign	1 lab	beadf85209
11:47356956 MYBPC3 G>A	11	47356956	47356956	G	A	MYBPC3	c.2738-196C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356956G>A	(Likely) benign	1 lab	beb44abd54
8:82355667 PMP2 C>T	8	82355667	82355667	C	T	PMP2	c.365G>A	NM_002677.5	NP_002668.1:p.(Gly122Asp)	NC_000008.10:g.82355667C>T	(Likely) benign	1 lab	beb5f1463c
8:133906153 TG A>G	8	133906153	133906153	A	G	TG	c.2980A>G	NM_003235.5	NP_003226.4:p.(Ile994Val)	NC_000008.10:g.133906153A>G	(Likely) benign	1 lab	beb622d4ed
11:67223182 CABP4 C>T	11	67223182	67223182	C	T	CABP4	c.288C>T	NM_145200.5	NP_660201.1:p.(Ser96=)	NC_000011.9:g.67223182C>T	(Likely) benign	1 lab	beb745d70e
10:71103741 HK1 C>T	10	71103741	71103741	C	T	HK1	c.186C>T	NM_033500.2	NP_277035.2:p.(Gly62=)	NC_000010.10:g.71103741C>T	(Likely) benign	1 lab	beb76af3ab
6:112457431 LAMA4 C>T	6	112457431	112457431	C	T	LAMA4	c.3308G>A	NM_001105206.3	NP_001098676.2:p.(Arg1103His)	NC_000006.11:g.112457431C>T	VUS	1 lab	bebc810833
1:237608788 RYR2 C>T	1	237608788	237608788	C	T	RYR2	c.1258C>T	NM_001035.3	NP_001026.2:p.(Arg420Trp)	NC_000001.10:g.237608788C>T	(Likely) pathogenic	1 lab	bebca6e506
7:154593191 DPP6 C>T	7	154593191	154593191	C	T	DPP6	c.1407+19C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154593191C>T	(Likely) benign	1 lab	bec0b4e132
2:179587855 TTN T>A	2	179587855	179587855	T	A	TTN	c.21879A>T	NM_001267550.2	NP_001254479.2:p.(Thr7293=)	NC_000002.11:g.179587855T>A	(Likely) benign	1 lab	bec2d80991
3:100455460 TFG C>T	3	100455460	100455460	C	T	TFG	c.621C>T	NM_006070.6	NP_006061.2:p.(Pro207=)	NC_000003.11:g.100455460C>T	(Likely) benign	1 lab	bec469fbdd
X:8538639 ANOS1 C>T	X	8538639	8538639	C	T	ANOS1	c.963G>A	NM_000216.4	NP_000207.2:p.(Pro321=)	NC_000023.10:g.8538639C>T	(Likely) benign	1 lab	bec8643c00
17:17039561 MPRIP C>CCAG	17	17039561	17039596	C	CCAG	MPRIP	c.566_568dup	NM_201274.4	NP_958431.2:p.(Ser189dup)	NC_000017.10:g.17039594_17039596dup	(Likely) benign	1 lab	bec9b908ca
14:24534335 CARMIL3 A>C	14	24534335	24534335	A	C	CARMIL3	c.3249A>C	NM_138360.4	NP_612369.3:p.(Pro1083=)	NC_000014.8:g.24534335A>C	(Likely) benign	1 lab	becd49bcc4
3:30732982 TGFBR2 AGT>A	3	30732982	30732989	AGT	A	TGFBR2	c.1676_1677del	NM_001024847.2	NP_001020018.1:p.(Val559GlyfsTer6)	NC_000003.11:g.30732988_30732989del	(Likely) pathogenic	1 lab	bed0d36874
3:57898376 SLMAP T>A	3	57898376	57898376	T	A	SLMAP	c.1866T>A	NM_007159.5	NP_009090.2:p.(Leu622=)	NC_000003.11:g.57898376T>A	(Likely) benign	1 lab	bed116c86c
16:70296288 AARS1 G>A	16	70296288	70296288	G	A	AARS1	c.1632C>T	NM_001605.3	NP_001596.2:p.(Asp544=)	NC_000016.9:g.70296288G>A	(Likely) benign	1 lab	bed3ccfee8
17:6337433 AIPL1 G>A	17	6337433	6337433	G	A	AIPL1	c.97-15C>T	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6337433G>A	(Likely) benign	1 lab	bed74711d4
1:237817615 RYR2 C>T	1	237817615	237817615	C	T	RYR2	c.7866C>T	NM_001035.3	NP_001026.2:p.(Cys2622=)	NC_000001.10:g.237817615C>T	(Likely) benign	1 lab	bed8a318f2
1:236922823 ACTN2 C>T	1	236922823	236922823	C	T	ACTN2	c.2302-201C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922823C>T	(Likely) benign	1 lab	bed8c7bcba
8:144297301 GPIHBP1 G>A	8	144297301	144297301	G	A	GPIHBP1	c.463G>A	NM_178172.6	NP_835466.2:p.(Gly155Ser)	NC_000008.10:g.144297301G>A	(Likely) benign	1 lab	bed97b0466
16:904557 LMF1 C>T	16	904557	904557	C	T	LMF1	c.1599G>A	NM_001352020.1	NP_001338949.1:p.(Trp533Ter)	NC_000016.9:g.904557C>T	VUS	1 lab	bedbe215f0
11:9879828 SBF2 C>T	11	9879828	9879828	C	T	SBF2	c.2045G>A	NM_030962.4	NP_112224.1:p.(Arg682His)	NC_000011.9:g.9879828C>T	VUS	1 lab	bee03e4b6f
7:154677332 DPP6 G>A	7	154677332	154677332	G	A	DPP6	c.2134-11G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154677332G>A	(Likely) benign	1 lab	bee0b912e3
2:179397751 TTN T>C	2	179397751	179397751	T	C	TTN	c.103591A>G	NM_001267550.2	NP_001254479.2:p.(Lys34531Glu)	NC_000002.11:g.179397751T>C	VUS	1 lab	bee0e88e98
1:3328155 PRDM16 C>T	1	3328155	3328155	C	T	PRDM16	c.1394C>T	NM_022114.4	NP_071397.3:p.(Pro465Leu)	NC_000001.10:g.3328155C>T	VUS	1 lab	bee5caaae6
11:31811460 PAX6 CTT>C	11	31811460	31811483	CTT	C	PAX6	c.1261_1262del	NM_000280.5	NP_000271.1:p.(Leu421ThrfsTer38)	NC_000011.9:g.31811482_31811483del	(Likely) benign	1 lab	bee66fc6d3
11:76915219 MYO7A C>T	11	76915219	76915219	C	T	MYO7A	c.5425C>T	NM_000260.4	NP_000251.3:p.(Leu1809=)	NC_000011.9:g.76915219C>T	(Likely) benign	1 lab	bee9ded912
15:44918604 SPG11 G>A	15	44918604	44918604	G	A	SPG11	c.2169C>T	NM_025137.4	NP_079413.3:p.(Gly723=)	NC_000015.9:g.44918604G>A	(Likely) benign	1 lab	beeac1ecf8
4:6303716 WFS1 C>T	4	6303716	6303716	C	T	WFS1	c.2194C>T	NM_006005.3	NP_005996.2:p.(Arg732Cys)	NC_000004.11:g.6303716C>T	VUS	1 lab	beefac045a
16:952298 LMF1 G>A	16	952298	952298	G	A	LMF1	c.264+8633C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.952298G>A	(Likely) benign	1 lab	beefe36083
12:125263117 SCARB1 C>T	12	125263117	125263117	C	T	SCARB1	c.1417G>A	NM_001082959.2	NP_001076428.1:p.(Val473Met)	NC_000012.11:g.125263117C>T	VUS	1 lab	bef0572d1e
3:119128712 ARHGAP31 T>A	3	119128712	119128712	T	A	ARHGAP31	c.1926+89T>A	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119128712T>A	(Likely) benign	1 lab	bef1381952
7:117417559 CTTNBP2 A>G	7	117417559	117417559	A	G	CTTNBP2	c.2724+6T>C	NM_001363349.1	NP_001350278.1:p.?	NC_000007.13:g.117417559A>G	(Likely) benign	1 lab	bef474293d
1:147230352 GJA5 C>T	1	147230352	147230352	C	T	GJA5	c.995G>A	NM_005266.7	NP_005257.2:p.(Arg332His)	NC_000001.10:g.147230352C>T	VUS	1 lab	bef58bbd06
7:128475396 FLNC G>C	7	128475396	128475396	G	C	FLNC	c.369G>C	NM_001458.5	NP_001449.3:p.(Val123=)	NC_000007.13:g.128475396G>C	(Likely) benign	1 lab	bef8472392
2:179428276 TTN C>T	2	179428276	179428276	C	T	TTN	c.82583G>A	NM_001267550.2	NP_001254479.2:p.(Arg27528Gln)	NC_000002.11:g.179428276C>T	VUS	1 lab	befdb623eb
4:126370757 FAT4 G>A	4	126370757	126370757	G	A	FAT4	c.8592G>A	NM_001291303.3	NP_001278232.1:p.(Val2864=)	NC_000004.11:g.126370757G>A	(Likely) benign	1 lab	befec412b5
3:171360618 PLD1 G>A	3	171360618	171360618	G	A	PLD1	c.2593+12C>T	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171360618G>A	(Likely) benign	1 lab	bf0148c33a
4:9212484 USP17L10 T>G	4	9212484	9212484	T	G	USP17L10	c.102T>G	NM_001256852.1	NP_001243781.1:p.(Arg34=)	NC_000004.11:g.9212484T>G	(Likely) benign	1 lab	bf01c813d8
4:100510825 MTTP A>G	4	100510825	100510825	A	G	MTTP	c.419A>G	NM_000253.4	NP_000244.2:p.(Asn140Ser)	NC_000004.11:g.100510825A>G	(Likely) benign	1 lab	bf049114ea
11:111781065 CRYAB G>A	11	111781065	111781065	G	A	CRYAB	c.310C>T	NM_001885.3	NP_001876.1:p.(His104Tyr)	NC_000011.9:g.111781065G>A	VUS	1 lab	bf0c9c7ac8
16:2108882 TSC2 G>A	16	2108882	2108882	G	A	TSC2	c.975+8G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2108882G>A	(Likely) benign	1 lab	bf0d6922c2
1:74797215 TNNI3K T>C	1	74797215	74797215	T	C	TNNI3K	c.526T>C	NM_015978.3	NP_057062.1:p.(Tyr176His)	NC_000001.10:g.74797215T>C	VUS	1 lab	bf12da2f35
9:137709402 COL5A1 G>A	9	137709402	137709402	G	A	COL5A1	c.4177-222G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709402G>A	(Likely) benign	1 lab	bf14a825f5
X:9684305 TBL1X A>G	X	9684305	9684305	A	G	TBL1X	c.*19A>G	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9684305A>G	(Likely) benign	1 lab	bf17984f19
2:179517201 TTN T>A	2	179517201	179517201	T	A	TTN	c.39111A>T	NM_001267550.2	NP_001254479.2:p.(Glu13037Asp)	NC_000002.11:g.179517201T>A	VUS	1 lab	bf1b37a1cb
2:179392996 TTN C>T	2	179392996	179392996	C	T	TTN	c.107377+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179392996C>T	VUS	1 lab	bf1f831c14
9:33798504 PRSS3 A>C	9	33798504	33798504	A	C	PRSS3	c.517A>C	NM_001197097.3	NP_001184026.3:p.(Lys173Gln)	NC_000009.11:g.33798504A>C	(Likely) benign	1 lab	bf2254092d
X:20185730 RPS6KA3 C>T	X	20185730	20185730	C	T	RPS6KA3	c.1579G>A	NM_004586.3	NP_004577.1:p.(Val527Ile)	NC_000023.10:g.20185730C>T	VUS	1 lab	bf2b11b96a
9:34997061 DNAJB5 C>T	9	34997061	34997061	C	T	DNAJB5	c.1068C>T	NM_001135005.3	NP_001128477.1:p.(Asp356=)	NC_000009.11:g.34997061C>T	(Likely) benign	1 lab	bf2d681807
16:904810 LMF1 G>A	16	904810	904810	G	A	LMF1	c.1131-104C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.904810G>A	(Likely) benign	1 lab	bf2d74aeb7
1:161277058 MPZ T>A	1	161277058	161277058	T	A	MPZ	c.224A>T	NM_000530.8	NP_000521.2:p.(Asp75Val)	NC_000001.10:g.161277058T>A	(Likely) pathogenic	1 lab	bf2d7fe7a4
1:235918733 LYST A>AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	1	235918733	235918735	A	AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	LYST	c.7229+44_7229+45insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235918734_235918735insAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA	(Likely) benign	1 lab	bf2f8a949a
2:73746956 ALMS1 T>C	2	73746956	73746956	T	C	ALMS1	c.9597T>C	NM_015120.4	NP_055935.4:p.(Ser3199=)	NC_000002.11:g.73746956T>C	(Likely) benign	1 lab	bf2fc6c756
15:58834801 LIPC A>G	15	58834801	58834801	A	G	LIPC	c.525A>G	NM_000236.3	NP_000227.2:p.(Gly175=)	NC_000015.9:g.58834801A>G	(Likely) benign	1 lab	bf3771aba1
X:130415207 IGSF1 C>T	X	130415207	130415207	C	T	IGSF1	c.1631G>A	NM_001170961.2	NP_001164432.1:p.(Arg544Gln)	NC_000023.10:g.130415207C>T	(Likely) benign	1 lab	bf37a269bb
2:1488568 TPO C>T	2	1488568	1488568	C	T	TPO	c.1539C>T	NM_001206744.2	NP_001193673.1:p.(Asp513=)	NC_000002.11:g.1488568C>T	(Likely) benign	1 lab	bf72e1b858
2:225368408 CUL3 AAC>A	2	225368408	225368412	AAC	A	CUL3	c.1336_1337del	NM_003590.5	NP_003581.1:p.(Val446PhefsTer2)	NC_000002.11:g.225368411_225368412del	VUS	1 lab	bf39ae1c48
16:1575870 IFT140 C>T	16	1575870	1575870	C	T	IFT140	c.2768+18G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1575870C>T	(Likely) benign	1 lab	bf3bf12486
2:86479109 REEP1 C>T	2	86479109	86479109	C	T	REEP1	c.388G>A	NM_022912.3	NP_075063.1:p.(Ala130Thr)	NC_000002.11:g.86479109C>T	VUS	1 lab	bf3cffa4c9
11:47366353 MYBPC3 T>C	11	47366353	47366353	T	C	MYBPC3	c.1091-1178A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366353T>C	(Likely) pathogenic	1 lab	bf3da21628
6:123824803 TRDN A>G	6	123824803	123824803	A	G	TRDN	c.854T>C	NM_001256021.2	NP_001242950.1:p.(Met285Thr)	NC_000006.11:g.123824803A>G	(Likely) benign	1 lab	bf40799d19
7:94039046 COL1A2 C>T	7	94039046	94039046	C	T	COL1A2	c.948C>T	NM_000089.4	NP_000080.2:p.(Gly316=)	NC_000007.13:g.94039046C>T	(Likely) benign	1 lab	bf451552f7
18:47108005 LIPG C>G	18	47108005	47108005	C	G	LIPG	c.1014C>G	NM_006033.4	NP_006024.1:p.(Thr338=)	NC_000018.9:g.47108005C>G	(Likely) benign	1 lab	bf453c519c
2:179454236 TTN TA>T	2	179454236	179454239	TA	T	TTN	c.62215del	NM_001267550.2	NP_001254479.2:p.(Tyr20739MetfsTer17)	NC_000002.11:g.179454239del	(Likely) pathogenic	1 lab	bf466be9b7
8:144999417 PLEC C>T	8	144999417	144999417	C	T	PLEC	c.5091G>A	NM_201380.4	NP_958782.1:p.(Ala1697=)	NC_000008.10:g.144999417C>T	(Likely) benign	1 lab	bf48945f1e
15:77067396 SCAPER T>C	15	77067396	77067396	T	C	SCAPER	c.835A>G	NM_001353009.2	NP_001339938.1:p.(Thr279Ala)	NC_000015.9:g.77067396T>C	(Likely) benign	1 lab	bf4971445a
1:100671860 DBT AT>A	1	100671860	100671866	AT	A	DBT	c.1210-4del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671866del	(Likely) benign	1 lab	bf4bb61888
10:73544074 CDH23 T>TG	10	73544074	73544075	T	TG	CDH23	c.5400dup	NM_022124.6	NP_071407.4:p.(Leu1801AlafsTer25)	NC_000010.10:g.73544075dup	(Likely) pathogenic	1 lab	bf536cb127
3:119367329 POPDC2 G>A	3	119367329	119367329	G	A	POPDC2	c.787C>T	NM_001369919.2	NP_001356848.1:p.(Arg263Cys)	NC_000003.11:g.119367329G>A	VUS	1 lab	bf54c2cbae
17:48266192 COL1A1 G>A	17	48266192	48266192	G	A	COL1A1	c.3046-36C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266192G>A	(Likely) benign	1 lab	bf5ce0568e
9:107591807 ABCA1 C>T	9	107591807	107591807	C	T	ABCA1	c.1893-388G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591807C>T	(Likely) benign	1 lab	bf5da1e24a
9:137664414 COL5A1 A>G	9	137664414	137664414	A	G	COL5A1	c.2287-222A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664414A>G	(Likely) benign	1 lab	bf683d49e4
1:243504456 SDCCAG8 G>C	1	243504456	243504456	G	C	SDCCAG8	c.1337G>C	NM_006642.5	NP_006633.1:p.(Arg446Pro)	NC_000001.10:g.243504456G>C	VUS	1 lab	bf6989f2e0
12:122248146 SETD1B C>T	12	122248146	122248146	C	T	SETD1B	c.1295C>T	NM_001353345.2	NP_001340274.1:p.(Pro432Leu)	NC_000012.11:g.122248146C>T	(Likely) benign	1 lab	bf6f671cbe
15:44858121 SPG11 G>A	15	44858121	44858121	G	A	SPG11	c.6930C>T	NM_025137.4	NP_079413.3:p.(Asn2310=)	NC_000015.9:g.44858121G>A	(Likely) benign	1 lab	bf7370bdb5
8:38876457 ADAM9 T>G	8	38876457	38876457	T	G	ADAM9	c.672+20T>G	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38876457T>G	(Likely) benign	1 lab	bf747f7b44
2:105472207 POU3F3 GGGCCATGGCCGCCAGCAACGGC>G	2	105472207	105472235	GGGCCATGGCCGCCAGCAACGGC	G	POU3F3	c.246_267del	NM_006236.3	NP_006227.1:p.(Met82IlefsTer3)	NC_000002.11:g.105472214_105472235del	VUS	1 lab	bf77ecc0d0
1:55505555 PCSK9 G>A	1	55505555	55505555	G	A	PCSK9	c.45G>A	NM_174936.4	NP_777596.2:p.(Leu15=)	NC_000001.10:g.55505555G>A	(Likely) benign	1 lab	bf7be40941
12:2706397 CACNA1C T>TGAGC	12	2706397	2706398	T	TGAGC	CACNA1C	c.2795_2796insGAGC	NM_199460.4	NP_955630.3:p.(Ile932MetfsTer7)	NC_000012.11:g.2706397_2706398insGAGC	(Likely) benign	1 lab	bf8023f02d
12:89891122 POC1B A>G	12	89891122	89891122	A	G	POC1B	c.101-3T>C	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89891122A>G	(Likely) benign	1 lab	bf83942e5e
7:128489507 FLNC G>A	7	128489507	128489507	G	A	FLNC	c.5074G>A	NM_001458.5	NP_001449.3:p.(Val1692Met)	NC_000007.13:g.128489507G>A	VUS	1 lab	bf87d606ff
12:122265940 SETD1B C>T	12	122265940	122265940	C	T	SETD1B	c.5691C>T	NM_001353345.2	NP_001340274.1:p.(Cys1897=)	NC_000012.11:g.122265940C>T	(Likely) benign	1 lab	bf8a2bd2a5
X:152771980 BGN C>T	X	152771980	152771980	C	T	BGN	c.566-7C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771980C>T	(Likely) benign	1 lab	bf8d3d96dd
14:23874550 MYH6 G>T	14	23874550	23874550	G	T	MYH6	c.384C>A	NM_002471.4	NP_002462.2:p.(Tyr128Ter)	NC_000014.8:g.23874550G>T	VUS	1 lab	bf914e1683
2:167083139 SCN9A A>T	2	167083139	167083139	A	T	SCN9A	c.4303T>A	NM_002977.3	NP_002968.1:p.(Phe1435Ile)	NC_000002.11:g.167083139A>T	VUS	1 lab	bf9153d6b1
5:138223305 CTNNA1 C>T	5	138223305	138223305	C	T	CTNNA1	c.1270C>T	NM_001903.5	NP_001894.2:p.(Arg424Cys)	NC_000005.9:g.138223305C>T	VUS	1 lab	bf9330ecc1
12:2224422 CACNA1C G>A	12	2224422	2224422	G	A	CACNA1C	c.82G>A	NM_001167623.2	NP_001161095.1:p.(Ala28Thr)	NC_000012.11:g.2224422G>A	VUS	1 lab	bf94885d12
2:166903456 SCN1A T>C	2	166903456	166903456	T	C	SCN1A	c.1201A>G	NM_001202435.3	NP_001189364.1:p.(Ile401Val)	NC_000002.11:g.166903456T>C	VUS	1 lab	bf94a91db4
3:38793711 SCN10A G>A	3	38793711	38793711	G	A	SCN10A	c.1754C>T	NM_006514.4	NP_006505.4:p.(Ser585Leu)	NC_000003.11:g.38793711G>A	VUS	1 lab	bf976dc955
8:144297408 GPIHBP1 C>T	8	144297408	144297408	C	T	GPIHBP1	c.*15C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297408C>T	(Likely) benign	1 lab	bf9939dd11
13:32906610 BRCA2 T>A	13	32906610	32906610	T	A	BRCA2	c.995T>A	NM_000059.4	NP_000050.3:p.(Ile332Asn)	NC_000013.10:g.32906610T>A	(Likely) benign	1 lab	bfa27fbd21
2:179393409 TTN T>C	2	179393409	179393409	T	C	TTN	c.99365A>G	NM_133378.4	NP_596869.4:p.(Tyr33122Cys)	NC_000002.11:g.179393409T>C	VUS	1 lab	bfa366d473
8:22273478 SLC39A14 G>C	8	22273478	22273478	G	C	SLC39A14	c.939+8G>C	NM_001351660.2	NP_001338589.1:p.?	NC_000008.10:g.22273478G>C	(Likely) benign	1 lab	bfa58d2b48
1:55509273 PCSK9 C>T	1	55509273	55509273	C	T	PCSK9	c.208-243C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509273C>T	(Likely) benign	1 lab	bfa622a026
14:76211545 TTLL5 G>T	14	76211545	76211545	G	T	TTLL5	c.1389G>T	NM_015072.5	NP_055887.3:p.(Met463Ile)	NC_000014.8:g.76211545G>T	(Likely) benign	1 lab	bfa74495f4
17:72759529 NHERF1 G>A	17	72759529	72759529	G	A	NHERF1	c.627G>A	NM_004252.5	NP_004243.1:p.(Gly209=)	NC_000017.10:g.72759529G>A	(Likely) benign	1 lab	bfaa4999cf
19:22156819 ZNF208 C>T	19	22156819	22156819	C	T	ZNF208	c.1017G>A	NM_007153.3	NP_009084.2:p.(Lys339=)	NC_000019.9:g.22156819C>T	(Likely) benign	1 lab	bfaf508b99
19:42797218 CIC G>T	19	42797218	42797218	G	T	CIC	c.6307G>T	NM_001304815.2	NP_001291744.1:p.(Ala2103Ser)	NC_000019.9:g.42797218G>T	(Likely) benign	1 lab	bfb209f4cb
5:128390638 MISSING A>Alt too long to show for this DUP	5	128390638	128726620	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.128390643_128726620dup	VUS	1 lab	bfb304e8a4
10:68040246 CTNNA3 A>G	10	68040246	68040246	A	G	CTNNA3	c.1866T>C	NM_013266.4	NP_037398.2:p.(Cys622=)	NC_000010.10:g.68040246A>G	(Likely) benign	1 lab	bfb7302738
1:155451344 ASH1L A>G	1	155451344	155451344	A	G	ASH1L	c.1317T>C	NM_001366177.2	NP_001353106.1:p.(Ser439=)	NC_000001.10:g.155451344A>G	(Likely) benign	1 lab	bfb7468176
17:6364888 PITPNM3 GC>G	17	6364888	6364889	GC	G	PITPNM3	c.2307-13del	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6364889del	(Likely) benign	1 lab	bfb8e7a292
6:7582631 DSP G>A	6	7582631	7582631	G	A	DSP	c.5380-244G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7582631G>A	(Likely) benign	1 lab	bfba341f44
1:8690932 RERE Ref too long to show for this DEL>A	1	8690932	8716080	Ref too long to show for this DEL	A	RERE	c.277_326-6494del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8690933_8716080del	VUS	1 lab	bfbe61f61b
1:237777945 RYR2 G>A	1	237777945	237777945	G	A	RYR2	c.5517G>A	NM_001035.3	NP_001026.2:p.(Leu1839=)	NC_000001.10:g.237777945G>A	(Likely) benign	1 lab	bfc0d2fd3d
9:129156818 MVB12B Ref too long to show for this DEL>A	9	129156818	129166936	Ref too long to show for this DEL	A	MVB12B	c.540-1035_662+8960del	NM_033446.3	NP_258257.1:p.?	NC_000009.11:g.129156819_129166936del	VUS	1 lab	bfc0dd11a7
12:125292365 SCARB1 G>A	12	125292365	125292365	G	A	SCARB1	c.951C>T	NM_005505.5	NP_005496.4:p.(Asn317=)	NC_000012.11:g.125292365G>A	(Likely) benign	1 lab	bfc38c890b
8:59404175 CYP7A1 C>A	8	59404175	59404175	C	A	CYP7A1	c.1374G>T	NM_000780.4	NP_000771.2:p.(Leu458Phe)	NC_000008.10:g.59404175C>A	VUS	1 lab	bfc8a9fd53
15:48937350 FBN1 C>T	15	48937350	48937350	C	T	FBN1	c.-181-203G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48937350C>T	(Likely) benign	1 lab	bfc9d15230
16:904626 LMF1 C>T	16	904626	904626	C	T	LMF1	c.1211G>A	NM_001352018.2	NP_001338947.1:p.(Arg404Gln)	NC_000016.9:g.904626C>T	VUS	1 lab	bfcd9257a9
18:29125705 DSG2 G>A	18	29125705	29125705	G	A	DSG2	c.2356G>A	NM_001943.5	NP_001934.2:p.(Glu786Lys)	NC_000018.9:g.29125705G>A	VUS	1 lab	bfce60c7a2
17:19476552 MISSING C>Alt too long to show for this DUP	17	19476552	19612086	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19476554_19612086dup	VUS	1 lab	bfd2dc1906
X:49063467 CACNA1F G>C	X	49063467	49063467	G	C	CACNA1F	c.5263C>G	NM_005183.4	NP_005174.2:p.(Arg1755Gly)	NC_000023.10:g.49063467G>C	VUS	1 lab	bfdbb13cbf
12:57926768 DCTN2 A>G	12	57926768	57926768	A	G	DCTN2	c.788T>C	NM_006400.5	NP_006391.1:p.(Met263Thr)	NC_000012.11:g.57926768A>G	(Likely) benign	1 lab	bfdcbd2a7c
9:138606586 KCNT1 T>C	9	138606586	138606586	T	C	KCNT1	c.254+20T>C	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138606586T>C	(Likely) benign	1 lab	bfe16bf82f
X:15585938 ACE2 G>A	X	15585938	15585938	G	A	ACE2	c.1908C>T	NM_021804.3	NP_068576.1:p.(Asn636=)	NC_000023.10:g.15585938G>A	(Likely) benign	1 lab	bfe4a634fd
11:68131251 LRP5 C>T	11	68131251	68131251	C	T	LRP5	c.723C>T	NM_002335.4	NP_002326.2:p.(Phe241=)	NC_000011.9:g.68131251C>T	(Likely) benign	1 lab	bfe9990a79
17:48275309 COL1A1 C>T	17	48275309	48275309	C	T	COL1A1	c.642+1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48275309C>T	(Likely) pathogenic	1 lab	bfea120a87
16:88498027 ZNF469 G>A	16	88498027	88498027	G	A	ZNF469	c.4149G>A	NM_001367624.2	NP_001354553.1:p.(Leu1383=)	NC_000016.9:g.88498027G>A	(Likely) benign	1 lab	bfeb7532cd
22:31244670 OSBP2 Ref too long to show for this DEL>G	22	31244670	31259449	Ref too long to show for this DEL	G	OSBP2	c.854-21744_854-6967del	NM_030758.4	NP_110385.1:p.?	NC_000022.10:g.31244672_31259449del	VUS	1 lab	bfebc733e6
16:88800395 PIEZO1 C>G	16	88800395	88800395	C	G	PIEZO1	c.2248G>C	NM_001142864.4	NP_001136336.2:p.(Glu750Gln)	NC_000016.9:g.88800395C>G	(Likely) benign	1 lab	bfeca2fb1e
8:19811883 LPL C>T	8	19811883	19811883	C	T	LPL	c.775+19C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811883C>T	(Likely) benign	1 lab	bfecc65c5d
16:49557526 ZNF423 G>T	16	49557526	49557526	G	T	ZNF423	c.3645+9C>A	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49557526G>T	(Likely) benign	1 lab	bfee4cc48e
8:3475234 CSMD1 Ref too long to show for this DEL>A	8	3475234	3482528	Ref too long to show for this DEL	A	CSMD1	c.1010-8209_1010-916del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3475235_3482528del	VUS	1 lab	bff00d7ebe
8:55538466 RP1 A>T	8	55538466	55538466	A	T	RP1	c.2024A>T	NM_006269.2	NP_006260.1:p.(Lys675Ile)	NC_000008.10:g.55538466A>T	VUS	1 lab	bffb142b6a
2:105984059 FHL2 G>T	2	105984059	105984059	G	T	FHL2	c.469C>A	NM_201555.2	NP_963849.1:p.(Gln157Lys)	NC_000002.11:g.105984059G>T	VUS	1 lab	bfff918719
2:172935652 METAP1D C>A	2	172935652	172935652	C	A	METAP1D	c.204C>A	NM_001322278.2	NP_001309207.1:p.(Tyr68Ter)	NC_000002.11:g.172935652C>A	VUS	1 lab	c00146c0b9
15:45409345 DUOXA2 T>C	15	45409345	45409345	T	C	DUOXA2	c.611T>C	NM_207581.4	NP_997464.2:p.(Leu204Pro)	NC_000015.9:g.45409345T>C	VUS	1 lab	c006d7e50b
2:179632834 TTN T>C	2	179632834	179632834	T	C	TTN	c.9212A>G	NM_133378.4	NP_596869.4:p.(Glu3071Gly)	NC_000002.11:g.179632834T>C	VUS	1 lab	c0076562ac
5:166555766 TENM2 Ref too long to show for this DEL>C	5	166555766	166682690	Ref too long to show for this DEL	C	TENM2	c.-75+55406_-74-29079del	NM_001395460.1	NP_001382389.1:p.?	NC_000005.9:g.166555767_166682690del	VUS	1 lab	c008c174a2
19:14589378 GIPC1 C>T	19	14589378	14589378	C	T	GIPC1	c.852G>A	NM_005716.4	NP_005707.1:p.(Ala284=)	NC_000019.9:g.14589378C>T	(Likely) benign	1 lab	c009241c28
18:47116543 LIPG TTGTG>T	18	47116543	47116578	TTGTG	T	LIPG	c.1482-296_1482-293del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116575_47116578del	(Likely) benign	1 lab	c0095764a1
12:79115558 MISSING Ref too long to show for this DEL>C	12	79115558	81171000	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.79115559_81171000del	VUS	1 lab	c00bf6038f
1:63063355 ANGPTL3 T>C	1	63063355	63063355	T	C	ANGPTL3	c.118T>C	NM_014495.4	NP_055310.1:p.(Leu40=)	NC_000001.10:g.63063355T>C	(Likely) benign	1 lab	c00fd60bff
4:100496047 MTTP G>A	4	100496047	100496047	G	A	MTTP	c.-20G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100496047G>A	VUS	1 lab	c010366e9a
22:46761497 CELSR1 C>G	22	46761497	46761497	C	G	CELSR1	c.8390G>C	NM_001378328.1	NP_001365257.1:p.(Cys2797Ser)	NC_000022.10:g.46761497C>G	(Likely) benign	1 lab	c01179ecb3
16:70954571 HYDIN C>T	16	70954571	70954571	C	T	HYDIN	c.7708G>A	NM_001270974.2	NP_001257903.1:p.(Asp2570Asn)	NC_000016.9:g.70954571C>T	(Likely) benign	1 lab	c01683b937
2:21233165 APOB T>A	2	21233165	21233165	T	A	APOB	c.6575A>T	NM_000384.3	NP_000375.3:p.(His2192Leu)	NC_000002.11:g.21233165T>A	VUS	1 lab	c016899a82
17:41052817 G6PC1 G>A	17	41052817	41052817	G	A	G6PC1	c.-77G>A	NM_001270397.2	NP_001257326.1:p.?	NC_000017.10:g.41052817G>A	(Likely) benign	1 lab	c0184d6e31
2:152364531 NEB C>T	2	152364531	152364531	C	T	NEB	c.23544G>A	NM_001271208.2	NP_001258137.2:p.(Lys7848=)	NC_000002.11:g.152364531C>T	(Likely) benign	1 lab	c019a47eb0
3:128479386 MISSING A>Alt too long to show for this DUP	3	128479386	128703919	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.128479387_128703919dup	VUS	1 lab	c019a70fbd
16:81323953 BCO1 G>C	16	81323953	81323953	G	C	BCO1	c.1415G>C	NM_017429.3	NP_059125.2:p.(Gly472Ala)	NC_000016.9:g.81323953G>C	(Likely) benign	1 lab	c01a81a9ca
16:29427214 MISSING Ref too long to show for this DEL>G	16	29427214	30177241	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.29427216_30177241del	(Likely) pathogenic	1 lab	c01b711ce0
15:45884336 BLOC1S6 TA>T	15	45884336	45884338	TA	T	BLOC1S6	c.88del	NM_012388.4	NP_036520.1:p.(Ser30ValfsTer9)	NC_000015.9:g.45884338del	VUS	1 lab	c01bb12449
20:3891298 PANK2 C>T	20	3891298	3891298	C	T	PANK2	c.1056C>T	NM_153638.4	NP_705902.2:p.(Val352=)	NC_000020.10:g.3891298C>T	(Likely) benign	1 lab	c01c2ef867
2:44079941 ABCG8 A>G	2	44079941	44079941	A	G	ABCG8	c.898A>G	NM_022437.3	NP_071882.1:p.(Met300Val)	NC_000002.11:g.44079941A>G	VUS	1 lab	c01cf98e91
19:11218078 LDLR C>T	19	11218078	11218078	C	T	LDLR	c.828C>T	NM_000527.5	NP_000518.1:p.(Cys276=)	NC_000019.9:g.11218078C>T	(Likely) benign	1 lab	c01d57a9fd
1:3342326 PRDM16 G>A	1	3342326	3342326	G	A	PRDM16	c.3109+12G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342326G>A	VUS	1 lab	c01fa4d941
13:32945164 BRCA2 AT>A	13	32945164	32945165	AT	A	BRCA2	c.8560del	NM_000059.4	NP_000050.3:p.(Tyr2854MetfsTer9)	NC_000013.10:g.32945165del	(Likely) pathogenic	1 lab	c022f416f7
15:28106811 MISSING C>Alt too long to show for this DUP	15	28106811	28436404	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.28106813_28436404dup	VUS	1 lab	c026b636ea
10:88445464 LDB3 A>G	10	88445464	88445464	A	G	LDB3	c.690-1362A>G	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88445464A>G	(Likely) benign	1 lab	c02c876183
16:16248793 ABCC6 G>A	16	16248793	16248793	G	A	ABCC6	c.3978C>T	NM_001171.6	NP_001162.5:p.(Asp1326=)	NC_000016.9:g.16248793G>A	(Likely) benign	1 lab	c02f40fc68
2:179621363 TTN C>A	2	179621363	179621363	C	A	TTN	c.10840G>T	NM_001267550.2	NP_001254479.2:p.(Glu3614Ter)	NC_000002.11:g.179621363C>A	VUS	1 lab	c031c71e5f
12:122257627 SETD1B C>T	12	122257627	122257627	C	T	SETD1B	c.3736C>T	NM_001353345.2	NP_001340274.1:p.(Arg1246Trp)	NC_000012.11:g.122257627C>T	(Likely) benign	1 lab	c033d9f0c3
12:69044382 MISSING C>Alt too long to show for this DUP	12	69044382	69170947	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.69044387_69170947dup	VUS	1 lab	c035320f3d
6:65303029 EYS G>A	6	65303029	65303029	G	A	EYS	c.3858C>T	NM_001292009.2	NP_001278938.1:p.(Asp1286=)	NC_000006.11:g.65303029G>A	(Likely) benign	1 lab	c0362f97b5
16:68857539 CDH1 G>C	16	68857539	68857539	G	C	CDH1	c.2164+10G>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68857539G>C	(Likely) benign	1 lab	c03e94c125
3:38904784 SCN11A C>T	3	38904784	38904784	C	T	SCN11A	c.3958G>A	NM_014139.3	NP_054858.2:p.(Gly1320Ser)	NC_000003.11:g.38904784C>T	VUS	1 lab	c03f43dc09
1:1737991 GNB1 C>T	1	1737991	1737991	C	T	GNB1	c.204-14G>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1737991C>T	(Likely) benign	1 lab	c041e062c7
2:44102560 ABCG8 C>T	2	44102560	44102560	C	T	ABCG8	c.1756+8C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102560C>T	(Likely) benign	1 lab	c043177fad
13:36178548 NBEA Ref too long to show for this DEL>T	13	36178548	36200234	Ref too long to show for this DEL	T	NBEA	c.7297-2013_7450-1984del	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.36178550_36200234del	VUS	1 lab	c043a2c306
8:1791501 ARHGEF10 T>C	8	1791501	1791501	T	C	ARHGEF10	c.26-18T>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1791501T>C	(Likely) benign	1 lab	c0446f7df6
19:45409417 APOE C>A	19	45409417	45409417	C	A	APOE	c.55+237C>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409417C>A	(Likely) benign	1 lab	c046efeaa1
15:58860956 LIPC G>A	15	58860956	58860956	G	A	LIPC	c.1430G>A	NM_000236.3	NP_000227.2:p.(Arg477His)	NC_000015.9:g.58860956G>A	(Likely) benign	1 lab	c0499c03c3
12:115114224 TBX3 CT>C	12	115114224	115114229	CT	C	TBX3	c.992del	NM_016569.4	NP_057653.3:p.(Lys331ArgfsTer30)	NC_000012.11:g.115114229del	(Likely) pathogenic	1 lab	c04b72fc52
3:172531251 MISSING Ref too long to show for this DEL>T	3	172531251	172566453	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.172531255_172566453del	VUS	1 lab	c04cd6353a
16:1025532 LMF1 C>A	16	1025532	1025532	C	A	LMF1	c.-362+5613G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1025532C>A	(Likely) benign	1 lab	c04e22c60a
15:58838164 LIPC C>T	15	58838164	58838164	C	T	LIPC	c.798C>T	NM_000236.3	NP_000227.2:p.(His266=)	NC_000015.9:g.58838164C>T	(Likely) benign	1 lab	c0520c59e1
14:76437973 TGFB3 G>A	14	76437973	76437973	G	A	TGFB3	c.441C>T	NM_003239.5	NP_003230.1:p.(Phe147=)	NC_000014.8:g.76437973G>A	(Likely) benign	1 lab	c052abe8ad
12:50501815 GPD1 G>A	12	50501815	50501815	G	A	GPD1	c.855G>A	NM_005276.4	NP_005267.2:p.(Glu285=)	NC_000012.11:g.50501815G>A	(Likely) benign	1 lab	c05dac03fc
7:121981126 CADPS2 C>Alt too long to show for this DUP	7	121981126	122009559	C	Alt too long to show for this DUP	CADPS2	c.3388-8491_3612+4501dup	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.121981128_122009559dup	VUS	1 lab	c06205cd9a
9:137664978 COL5A1 G>A	9	137664978	137664978	G	A	COL5A1	c.2331+298G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664978G>A	(Likely) benign	1 lab	c0623ca3ef
6:135784450 AHI1 A>G	6	135784450	135784450	A	G	AHI1	c.750-6T>C	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135784450A>G	(Likely) benign	1 lab	c064bba1dc
5:77477314 AP3B1 T>C	5	77477314	77477314	T	C	AP3B1	c.795+17A>G	NM_001271769.2	NP_001258698.1:p.?	NC_000005.9:g.77477314T>C	VUS	1 lab	c065ff468e
11:108178664 ATM A>G	11	108178664	108178664	A	G	ATM	c.5715A>G	NM_000051.4	NP_000042.3:p.(Ser1905=)	NC_000011.9:g.108178664A>G	(Likely) benign	1 lab	c066824c75
6:32557487 HLA-DRB1 G>A	6	32557487	32557487	G	A	HLA-DRB1	c.33C>T	NM_002124.4	NP_002115.2:p.(Cys11=)	NC_000006.11:g.32557487G>A	(Likely) benign	1 lab	c06734672c
2:225367767 CUL3 G>A	2	225367767	225367767	G	A	CUL3	c.1400C>T	NM_003590.5	NP_003581.1:p.(Thr467Met)	NC_000002.11:g.225367767G>A	(Likely) pathogenic	1 lab	c067798d37
18:10787126 PIEZO2 A>G	18	10787126	10787126	A	G	PIEZO2	c.2226T>C	NM_022068.4	NP_071351.2:p.(Ile742=)	NC_000018.9:g.10787126A>G	(Likely) benign	1 lab	c067b8da05
5:178581124 ADAMTS2 C>G	5	178581124	178581124	C	G	ADAMTS2	c.1308G>C	NM_014244.5	NP_055059.2:p.(Ala436=)	NC_000005.9:g.178581124C>G	(Likely) benign	1 lab	c06a5acb21
19:18272768 PIK3R2 C>T	19	18272768	18272768	C	T	PIK3R2	c.816-8C>T	NM_005027.4	NP_005018.2:p.?	NC_000019.9:g.18272768C>T	(Likely) benign	1 lab	c06b702ced
10:73572306 CDH23 T>C	10	73572306	73572306	T	C	CDH23	c.9450T>C	NM_022124.6	NP_071407.4:p.(Asp3150=)	NC_000010.10:g.73572306T>C	(Likely) benign	1 lab	c06be520a7
11:108236216 ATM G>T	11	108236216	108236216	G	T	ATM	c.9152G>T	NM_000051.4	NP_000042.3:p.(Gly3051Val)	NC_000011.9:g.108236216G>T	VUS	1 lab	c06c7fcf01
6:7579819 DSP T>C	6	7579819	7579819	T	C	DSP	c.3396T>C	NM_004415.4	NP_004406.2:p.(Phe1132=)	NC_000006.11:g.7579819T>C	(Likely) benign	1 lab	c06e5b66d4
14:57270920 OTX2 C>T	14	57270920	57270920	C	T	OTX2	c.235G>A	NM_001270524.2	NP_001257453.1:p.(Glu79Lys)	NC_000014.8:g.57270920C>T	(Likely) pathogenic	1 lab	c06f6a12e3
11:116706761 APOA1 G>A	11	116706761	116706761	G	A	APOA1	c.240C>T	NM_001318021.1	NP_001304950.1:p.(Pro80=)	NC_000011.9:g.116706761G>A	VUS	1 lab	c07197632f
2:98994274 CNGA3 A>G	2	98994274	98994274	A	G	CNGA3	c.215+11A>G	NM_001298.3	NP_001289.1:p.?	NC_000002.11:g.98994274A>G	(Likely) benign	1 lab	c07446dbfb
8:19796669 LPL G>T	8	19796669	19796669	G	T	LPL				NC_000008.10:g.19796669G>T	(Likely) benign	1 lab	c077f30562
12:122261133 SETD1B C>T	12	122261133	122261133	C	T	SETD1B	c.4648C>T	NM_001353345.2	NP_001340274.1:p.(Leu1550=)	NC_000012.11:g.122261133C>T	(Likely) benign	1 lab	c07dda3d86
11:10064509 SBF2 C>T	11	10064509	10064509	C	T	SBF2	c.161G>A	NM_030962.4	NP_112224.1:p.(Trp54Ter)	NC_000011.9:g.10064509C>T	VUS	1 lab	c07ea070f2
15:72104194 NR2E3 G>A	15	72104194	72104194	G	A	NR2E3	c.334G>A	NM_016346.4	NP_057430.1:p.(Gly112Arg)	NC_000015.9:g.72104194G>A	VUS	1 lab	c07eeb248b
3:8787481 CAV3 C>T	3	8787481	8787481	C	T	CAV3	c.384C>T	NM_033337.3	NP_203123.1:p.(Phe128=)	NC_000003.11:g.8787481C>T	(Likely) benign	1 lab	c07f2c6efd
15:58837926 LIPC C>T	15	58837926	58837926	C	T	LIPC	c.575-15C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837926C>T	(Likely) benign	1 lab	c0805d4e43
15:96863553 MISSING Ref too long to show for this DEL>T	15	96863553	96896882	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.96863554_96896882del	VUS	1 lab	c08086bce1
11:47359444 MYBPC3 G>GCCCCCCC	11	47359444	47359450	G	GCCCCCCC	MYBPC3	c.2309-100_2309-99insGGGGGGG	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359449_47359450insCCCCCCC	(Likely) benign	1 lab	c080c973fa
X:13756952 OFD1 A>AT	X	13756952	13756958	A	AT	OFD1	c.313-7dup	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13756958dup	(Likely) benign	1 lab	c08226e0ed
11:47360141 MYBPC3 C>T	11	47360141	47360141	C	T	MYBPC3	c.2238G>A	NM_000256.3	NP_000247.2:p.(Glu746=)	NC_000011.9:g.47360141C>T	(Likely) benign	1 lab	c0841c74e1
3:53804489 CACNA1D C>T	3	53804489	53804489	C	T	CACNA1D	c.4014C>T	NM_000720.4	NP_000711.1:p.(Phe1338=)	NC_000003.11:g.53804489C>T	(Likely) benign	1 lab	c0ac655bec
13:50140824 RCBTB1 T>G	13	50140824	50140824	T	G	RCBTB1	c.207A>C	NM_018191.4	NP_060661.3:p.(Glu69Asp)	NC_000013.10:g.50140824T>G	(Likely) benign	1 lab	c0875b2023
3:177855630 MISSING Ref too long to show for this DEL>T	3	177855630	178888153	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.177855632_178888153del	VUS	1 lab	c088f3881b
9:87636313 NTRK2 G>A	9	87636313	87636313	G	A	NTRK2	c.2430G>A	NM_001369532.1	NP_001356461.1:p.(Leu810=)	NC_000009.11:g.87636313G>A	(Likely) benign	1 lab	c08aeedddb
2:167060924 SCN9A A>G	2	167060924	167060924	A	G	SCN9A	c.4416T>C	NM_002977.3	NP_002968.1:p.(Asn1472=)	NC_000002.11:g.167060924A>G	(Likely) benign	1 lab	c08f529f6f
2:21251380 APOB C>G	2	21251380	21251380	C	G	APOB	c.1648G>C	NM_000384.3	NP_000375.3:p.(Asp550His)	NC_000002.11:g.21251380C>G	VUS	1 lab	c090858ccf
4:122756435 BBS7 G>A	4	122756435	122756435	G	A	BBS7	c.1375C>T	NM_176824.3	NP_789794.1:p.(Arg459Cys)	NC_000004.11:g.122756435G>A	VUS	1 lab	c09677fc9c
3:175078497 MISSING Ref too long to show for this DEL>T	3	175078497	175749861	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.175078498_175749861del	VUS	1 lab	c09ca5c04e
11:78413377 TENM4 A>G	11	78413377	78413377	A	G	TENM4	c.4281T>C	NM_001098816.3	NP_001092286.2:p.(Asn1427=)	NC_000011.9:g.78413377A>G	(Likely) benign	1 lab	c09d5b2fb2
2:162120672 MISSING C>Alt too long to show for this DUP	2	162120672	162310592	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.162120679_162310592dup	VUS	1 lab	c09e230c2f
4:55133497 PDGFRA A>G	4	55133497	55133497	A	G	PDGFRA	c.801A>G	NM_006206.6	NP_006197.1:p.(Pro267=)	NC_000004.11:g.55133497A>G	(Likely) benign	1 lab	c0a0989925
10:68139015 CTNNA3 G>A	10	68139015	68139015	G	A	CTNNA3	c.1627C>T	NM_013266.4	NP_037398.2:p.(Arg543Trp)	NC_000010.10:g.68139015G>A	VUS	1 lab	c0a1fa8fa3
3:181430206 SOX2 GGCGGCGGCGGCAACTCCACC>G	3	181430206	181430237	GGCGGCGGCGGCAACTCCACC	G	SOX2	c.70_89del	NM_003106.4	NP_003097.1:p.(Asn24ArgfsTer65)	NC_000003.11:g.181430218_181430237del	(Likely) pathogenic	1 lab	c0a241dc9a
1:27875004 AHDC1 C>T	1	27875004	27875004	C	T	AHDC1	c.3623G>A	NM_001029882.3	NP_001025053.1:p.(Trp1208Ter)	NC_000001.10:g.27875004C>T	(Likely) pathogenic	1 lab	c0a2760b9c
9:107558496 ABCA1 G>A	9	107558496	107558496	G	A	ABCA1	c.5238-18C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558496G>A	(Likely) benign	1 lab	c0a4639d31
1:103487333 COL11A1 A>G	1	103487333	103487333	A	G	COL11A1	c.1282-8T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103487333A>G	(Likely) benign	1 lab	c0a66f9629
2:21232559 APOB A>G	2	21232559	21232559	A	G	APOB	c.7181T>C	NM_000384.3	NP_000375.3:p.(Val2394Ala)	NC_000002.11:g.21232559A>G	(Likely) benign	1 lab	c0a6fc471a
6:10791921 MAK C>A	6	10791921	10791921	C	A	MAK	c.1303G>T	NM_001242957.3	NP_001229886.1:p.(Asp435Tyr)	NC_000006.11:g.10791921C>A	VUS	1 lab	c0a7322e51
2:44058933 ABCG5 C>T	2	44058933	44058933	C	T	ABCG5	c.476G>A	NM_022436.3	NP_071881.1:p.(Gly159Asp)	NC_000002.11:g.44058933C>T	VUS	1 lab	c0a7b461ea
2:21231564 APOB G>C	2	21231564	21231564	G	C	APOB	c.8176C>G	NM_000384.3	NP_000375.3:p.(Leu2726Val)	NC_000002.11:g.21231564G>C	(Likely) benign	1 lab	c0a7fafb2d
7:128480983 FLNC A>AT	7	128480983	128480987	A	AT	FLNC	c.1776dup	NM_001458.5	NP_001449.3:p.(Val593CysfsTer27)	NC_000007.13:g.128480987dup	(Likely) pathogenic	1 lab	c0ace7d5c7
9:74961468 MISSING Ref too long to show for this DEL>A	9	74961468	74976851	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.74961470_74976851del	VUS	1 lab	c0ad48bcc8
1:66096093 LEPR T>TA	1	66096093	66096105	T	TA	LEPR	c.*17dup	NM_001198687.2	NP_001185616.1:p.?	NC_000001.10:g.66096105dup	(Likely) benign	1 lab	c0ae8c002b
19:55667553 TNNI3 C>A	19	55667553	55667553	C	A	TNNI3	c.282+16G>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667553C>A	(Likely) benign	1 lab	c0b10b6d2e
15:23891661 MAGEL2 C>A	15	23891661	23891661	C	A	MAGEL2	c.1229G>T	NM_019066.5	NP_061939.3:p.(Arg410Leu)	NC_000015.9:g.23891661C>A	VUS	1 lab	c0bea5c7eb
2:219677686 CYP27A1 C>T	2	219677686	219677686	C	T	CYP27A1	c.884C>T	NM_000784.4	NP_000775.1:p.(Ala295Val)	NC_000002.11:g.219677686C>T	(Likely) benign	1 lab	c0bed33231
10:71640273 COL13A1 C>T	10	71640273	71640273	C	T	COL13A1	c.450C>T	NM_001130103.2	NP_001123575.1:p.(Asp150=)	NC_000010.10:g.71640273C>T	(Likely) benign	1 lab	c0c307d42f
6:119137011 MCM9 G>A	6	119137011	119137011	G	A	MCM9	c.2408C>T	NM_017696.3	NP_060166.2:p.(Pro803Leu)	NC_000006.11:g.119137011G>A	(Likely) benign	1 lab	c0cac5c0b2
1:235543476 TBCE T>TTG	1	235543476	235543529	T	TTG	TBCE	c.100+64_100+65dup	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543528_235543529dup	(Likely) benign	1 lab	c0cc43ac0d
X:69626885 KIF4A C>G	X	69626885	69626885	C	G	KIF4A	c.3215C>G	NM_012310.5	NP_036442.3:p.(Pro1072Arg)	NC_000023.10:g.69626885C>G	VUS	1 lab	c0ccdec319
1:218578685 TGFB2 T>TTTGTTGTTGTTG	1	218578685	218578717	T	TTTGTTGTTGTTG	TGFB2	c.594+32_594+43dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578706_218578717dup	(Likely) benign	1 lab	c0ce5d457d
2:179614577 TTN C>T	2	179614577	179614577	C	T	TTN	c.12550G>A	NM_133379.5	NP_596870.2:p.(Gly4184Ser)	NC_000002.11:g.179614577C>T	VUS	1 lab	c0d3012e90
2:46607420 EPAS1 G>A	2	46607420	46607420	G	A	EPAS1	c.1609G>A	NM_001430.5	NP_001421.2:p.(Gly537Arg)	NC_000002.11:g.46607420G>A	(Likely) pathogenic	1 lab	c0d3df333d
8:144295334 GPIHBP1 G>A	8	144295334	144295334	G	A	GPIHBP1	c.52+140G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295334G>A	(Likely) benign	1 lab	c0d5b3e646
11:108114767 ATM C>T	11	108114767	108114767	C	T	ATM	c.584C>T	NM_000051.4	NP_000042.3:p.(Thr195Ile)	NC_000011.9:g.108114767C>T	(Likely) benign	1 lab	c0d7c61b90
6:70983805 COL9A1 C>A	6	70983805	70983805	C	A	COL9A1	c.1030-20G>T	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70983805C>A	(Likely) benign	1 lab	c0d893d2d4
19:11230767 LDLR G>A	19	11230767	11230767	G	A	LDLR	c.1846-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230767G>A	(Likely) pathogenic	1 lab	c0d9e031da
17:1558733 PRPF8 G>A	17	1558733	1558733	G	A	PRPF8	c.5898C>T	NM_006445.4	NP_006436.3:p.(His1966=)	NC_000017.10:g.1558733G>A	(Likely) benign	1 lab	c0dd1e21f6
1:211832061 NEK2 CAAA>C	1	211832061	211832090	CAAA	C	NEK2	c.1112-10_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832088_211832090del	(Likely) benign	1 lab	c0ddcb2df7
20:31996488 SNTA1 GA>G	20	31996488	31996489	GA	G	SNTA1	c.1425+18del	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.31996489del	(Likely) benign	1 lab	c0dee6dabc
2:128400608 LIMS2 C>T	2	128400608	128400608	C	T	LIMS2	c.384G>A	NM_001161404.2	NP_001154876.1:p.(Lys128=)	NC_000002.11:g.128400608C>T	(Likely) benign	1 lab	c0e27b23da
2:25474912 DNMT3A C>T	2	25474912	25474912	C	T	DNMT3A	c.52G>A	NM_001320893.1	NP_001307822.1:p.(Gly18Arg)	NC_000002.11:g.25474912C>T	(Likely) benign	1 lab	c0e2917cd3
15:58840557 LIPC C>T	15	58840557	58840557	C	T	LIPC	c.837C>T	NM_000236.3	NP_000227.2:p.(His279=)	NC_000015.9:g.58840557C>T	(Likely) benign	1 lab	c0e42929e2
17:29552168 NF1 T>C	17	29552168	29552168	T	C	NF1	c.1901T>C	NM_001042492.3	NP_001035957.1:p.(Ile634Thr)	NC_000017.10:g.29552168T>C	(Likely) benign	1 lab	c0e437222e
15:72105900 NR2E3 A>C	15	72105900	72105900	A	C	NR2E3	c.919A>C	NM_016346.4	NP_057430.1:p.(Ile307Leu)	NC_000015.9:g.72105900A>C	VUS	1 lab	c0e6366046
4:100532366 MTTP ATCT>A	4	100532366	100532375	ATCT	A	MTTP	c.1843_1845del	NM_000253.4	NP_000244.2:p.(Ser615del)	NC_000004.11:g.100532373_100532375del	(Likely) benign	1 lab	c0ea6a16bf
2:233659553 GIGYF2 C>A	2	233659553	233659553	C	A	GIGYF2	c.1441C>A	NM_001103147.2	NP_001096617.1:p.(Pro481Thr)	NC_000002.11:g.233659553C>A	(Likely) benign	1 lab	c0ebe9472b
7:92147374 PEX1 C>T	7	92147374	92147374	C	T	PEX1	c.-152-18G>A	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92147374C>T	(Likely) benign	1 lab	c0edcc5be0
X:32404528 DMD T>A	X	32404528	32404528	T	A	DMD	c.4573A>T	NM_004006.3	NP_003997.2:p.(Thr1525Ser)	NC_000023.10:g.32404528T>A	VUS	1 lab	c0f252783a
3:53531423 CACNA1D C>T	3	53531423	53531423	C	T	CACNA1D	c.312C>T	NM_000720.4	NP_000711.1:p.(Arg104=)	NC_000003.11:g.53531423C>T	(Likely) benign	1 lab	c0f5c223cd
5:82808215 VCAN C>T	5	82808215	82808215	C	T	VCAN	c.1042C>T	NM_001126336.3	NP_001119808.1:p.(Arg348Ter)	NC_000005.9:g.82808215C>T	VUS	1 lab	c0f5f5f521
10:112595592 RBM20 G>A	10	112595592	112595592	G	A	RBM20	c.3574-34G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112595592G>A	(Likely) benign	1 lab	c0f6ce6b8e
5:59064061 PDE4D C>A	5	59064061	59064061	C	A	PDE4D	c.-496+12G>T	NM_001364603.1	NP_001351532.1:p.?	NC_000005.9:g.59064061C>A	(Likely) benign	1 lab	c0f8cb883b
16:2130368 TSC2 G>A	16	2130368	2130368	G	A	TSC2	c.3600G>A	NM_000548.5	NP_000539.2:p.(Arg1200=)	NC_000016.9:g.2130368G>A	(Likely) benign	1 lab	c0f9ac901a
12:21991114 ABCC9 A>G	12	21991114	21991114	A	G	ABCC9	c.3474-10T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21991114A>G	(Likely) benign	1 lab	c0f9d25d7f
22:50904250 SBF1 T>G	22	50904250	50904250	T	G	SBF1	c.1031A>C	NM_002972.4	NP_002963.2:p.(Glu344Ala)	NC_000022.10:g.50904250T>G	VUS	1 lab	c0f9d701d0
X:137990086 MISSING T>Alt too long to show for this DUP	X	137990086	138298454	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.137990089_138298454dup	(Likely) pathogenic	1 lab	c0fa390427
1:196643107 CFH C>T	1	196643107	196643107	C	T	CFH	c.350+15C>T	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196643107C>T	(Likely) benign	1 lab	c0fc90d086
15:58724297 LIPC C>A	15	58724297	58724297	C	A	LIPC	c.66C>A	NM_000236.3	NP_000227.2:p.(Ala22=)	NC_000015.9:g.58724297C>A	(Likely) benign	1 lab	c100d4077b
5:79395647 MISSING G>Alt too long to show for this DUP	5	79395647	79424530	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.79395649_79424530dup	VUS	1 lab	c1018a1b29
X:37028373 FAM47C C>G	X	37028373	37028373	C	G	FAM47C	c.1890C>G	NM_001013736.3	NP_001013758.1:p.(Leu630=)	NC_000023.10:g.37028373C>G	(Likely) benign	1 lab	c102212b79
4:3534157 LRPAP1 G>C	4	3534157	3534157	G	C	LRPAP1				NC_000004.11:g.3534157G>C	(Likely) benign	1 lab	c21423d62e
6:47767871 MISSING Ref too long to show for this DEL>A	6	47767871	48026697	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.47767872_48026697del	(Likely) pathogenic	1 lab	c10406fc33
19:33167565 RGS9BP C>T	19	33167565	33167565	C	T	RGS9BP	c.396C>T	NM_207391.3	NP_997274.2:p.(Arg132=)	NC_000019.9:g.33167565C>T	(Likely) benign	1 lab	c104aff41b
2:179421656 TTN G>A	2	179421656	179421656	G	A	TTN	c.88225C>T	NM_001267550.2	NP_001254479.2:p.(Arg29409Cys)	NC_000002.11:g.179421656G>A	VUS	1 lab	c1052ce836
16:70293051 AARS1 C>T	16	70293051	70293051	C	T	AARS1	c.1824G>A	NM_001605.3	NP_001596.2:p.(Thr608=)	NC_000016.9:g.70293051C>T	(Likely) benign	1 lab	c107d80f29
1:243725371 AKT3 Ref too long to show for this DEL>G	1	243725371	243793566	Ref too long to show for this DEL	G	AKT3	c.561+7347_948+1650del	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243725372_243793566del	(Likely) pathogenic	1 lab	c10a6030ff
X:47486318 CFP GGGCCCCAA>G	X	47486318	47486332	GGGCCCCAA	G	CFP	c.786_793del	NM_001145252.3	NP_001138724.1:p.(Trp263CysfsTer91)	NC_000023.10:g.47486325_47486332del	(Likely) pathogenic	1 lab	c10a7ca25a
19:11226998 LDLR C>T	19	11226998	11226998	C	T	LDLR	c.1705+110C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226998C>T	(Likely) benign	1 lab	c10b083f38
1:63063520 ANGPTL3 G>C	1	63063520	63063520	G	C	ANGPTL3	c.283G>C	NM_014495.4	NP_055310.1:p.(Glu95Gln)	NC_000001.10:g.63063520G>C	VUS	1 lab	c10b38f803
4:100527979 MTTP T>C	4	100527979	100527979	T	C	MTTP	c.1419T>C	NM_000253.4	NP_000244.2:p.(Tyr473=)	NC_000004.11:g.100527979T>C	(Likely) benign	1 lab	c10d017718
20:62680335 SOX18 G>A	20	62680335	62680335	G	A	SOX18	c.359-20C>T	NM_018419.3	NP_060889.1:p.?	NC_000020.10:g.62680335G>A	(Likely) benign	1 lab	c10dc1511a
2:44102392 ABCG8 C>T	2	44102392	44102392	C	T	ABCG8	c.1596C>T	NM_022437.3	NP_071882.1:p.(Phe532=)	NC_000002.11:g.44102392C>T	(Likely) benign	1 lab	c10e542257
3:123382683 MYLK C>G	3	123382683	123382683	C	G	MYLK	c.3985+269G>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123382683C>G	(Likely) benign	1 lab	c10ee3e3d4
11:47356961 MYBPC3 T>C	11	47356961	47356961	T	C	MYBPC3	c.2738-201A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356961T>C	(Likely) benign	1 lab	c112a8708c
1:237655137 RYR2 A>G	1	237655137	237655137	A	G	RYR2	c.1740A>G	NM_001035.3	NP_001026.2:p.(Val580=)	NC_000001.10:g.237655137A>G	(Likely) benign	1 lab	c11b1418b9
22:46777880 CELSR1 G>A	22	46777880	46777880	G	A	CELSR1	c.6951C>T	NM_001378328.1	NP_001365257.1:p.(Thr2317=)	NC_000022.10:g.46777880G>A	(Likely) benign	1 lab	c11d261f9d
19:11217301 LDLR G>A	19	11217301	11217301	G	A	LDLR	c.755G>A	NM_000527.5	NP_000518.1:p.(Ser252Asn)	NC_000019.9:g.11217301G>A	VUS	1 lab	c11f4dbd1c
1:47882287 FOXE3 C>A	1	47882287	47882287	C	A	FOXE3	c.300C>A	NM_012186.3	NP_036318.1:p.(Phe100Leu)	NC_000001.10:g.47882287C>A	VUS	1 lab	c122979305
16:943166 LMF1 C>T	16	943166	943166	C	T	LMF1	c.265-94G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943166C>T	(Likely) benign	1 lab	c124a02866
13:32928973 BRCA2 C>CTTATATA	13	32928973	32928982	C	CTTATATA	BRCA2	c.7008-22_7008-16dup	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928976_32928982dup	(Likely) benign	1 lab	c1275d79ff
12:50501536 GPD1 G>A	12	50501536	50501536	G	A	GPD1	c.799G>A	NM_005276.4	NP_005267.2:p.(Gly267Arg)	NC_000012.11:g.50501536G>A	VUS	1 lab	c127a4aeef
17:41231351 BRCA1 C>T	17	41231351	41231351	C	T	BRCA1	c.4358-2720G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41231351C>T	(Likely) benign	1 lab	c12832f266
2:21257702 APOB C>T	2	21257702	21257702	C	T	APOB	c.890G>A	NM_000384.3	NP_000375.3:p.(Arg297His)	NC_000002.11:g.21257702C>T	(Likely) benign	1 lab	c128828f28
19:11200266 LDLR G>T	19	11200266	11200266	G	T	LDLR	c.42G>T	NM_000527.5	NP_000518.1:p.(Leu14Phe)	NC_000019.9:g.11200266G>T	(Likely) benign	1 lab	c128abdf88
3:122003531 CASR C>A	3	122003531	122003531	C	A	CASR	c.2760C>A	NM_001178065.2	NP_001171536.2:p.(Pro920=)	NC_000003.11:g.122003531C>A	(Likely) benign	1 lab	c12b9fce1d
8:19818976 LPL A>C	8	19818976	19818976	A	C	LPL	c.1322+382A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818976A>C	(Likely) benign	1 lab	c12cf2536c
8:144990528 PLEC A>G	8	144990528	144990528	A	G	PLEC	c.13872T>C	NM_201380.4	NP_958782.1:p.(Ala4624=)	NC_000008.10:g.144990528A>G	(Likely) benign	1 lab	c12d76c138
20:21106714 MISSING C>CG	20	21106714	21106716	C	CG	MISSING				NC_000020.10:g.21106716dup	(Likely) benign	1 lab	c24510d3d3
15:31327750 TRPM1 T>C	15	31327750	31327750	T	C	TRPM1	c.2750A>G	NM_001252020.2	NP_001238949.1:p.(Glu917Gly)	NC_000015.9:g.31327750T>C	VUS	1 lab	c131e68139
16:1402038 GNPTG G>A	16	1402038	1402038	G	A	GNPTG	c.52+20G>A	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1402038G>A	(Likely) benign	1 lab	c132bab2e4
14:105180706 INF2 A>G	14	105180706	105180706	A	G	INF2	c.3207A>G	NM_022489.4	NP_071934.3:p.(Pro1069=)	NC_000014.8:g.105180706A>G	(Likely) benign	1 lab	c133fcfb35
7:107302101 SLC26A4 C>A	7	107302101	107302101	C	A	SLC26A4	c.15C>A	NM_000441.2	NP_000432.1:p.(Gly5=)	NC_000007.13:g.107302101C>A	(Likely) benign	1 lab	c1365eee71
20:745963 SLC52A3 G>A	20	745963	745963	G	A	SLC52A3	c.456C>T	NM_033409.4	NP_212134.3:p.(Pro152=)	NC_000020.10:g.745963G>A	(Likely) benign	1 lab	c1369410de
11:68133118 LRP5 C>T	11	68133118	68133118	C	T	LRP5	c.963C>T	NM_002335.4	NP_002326.2:p.(Cys321=)	NC_000011.9:g.68133118C>T	(Likely) benign	1 lab	c13abf9e95
19:55316326 KIR2DL4 A>G	19	55316326	55316326	A	G	KIR2DL4	c.155A>G	NM_001080772.2	NP_001074241.1:p.(His52Arg)	NC_000019.9:g.55316326A>G	(Likely) benign	1 lab	c13da1b6b3
2:179424998 TTN A>G	2	179424998	179424998	A	G	TTN	c.85861T>C	NM_001267550.2	NP_001254479.2:p.(Tyr28621His)	NC_000002.11:g.179424998A>G	VUS	1 lab	c13ee94097
22:20784050 SCARF2 T>A	22	20784050	20784050	T	A	SCARF2	c.1273A>T	NM_153334.7	NP_699165.3:p.(Thr425Ser)	NC_000022.10:g.20784050T>A	(Likely) benign	1 lab	c13f20f17a
1:43212424 P3H1 CG>C	1	43212424	43212430	CG	C	P3H1	c.2154del	NM_022356.4	NP_071751.3:p.(Glu719AsnfsTer29)	NC_000001.10:g.43212430del	(Likely) pathogenic	1 lab	c140162822
14:105168110 INF2 G>A	14	105168110	105168110	G	A	INF2	c.391+17G>A	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105168110G>A	(Likely) benign	1 lab	c140f9f13c
4:39365719 MISSING A>Alt too long to show for this DUP	4	39365719	39431753	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.39365720_39431753dup	VUS	1 lab	c14125da09
15:23049335 NIPA1 C>T	15	23049335	23049335	C	T	NIPA1	c.484G>A	NM_144599.5	NP_653200.2:p.(Val162Met)	NC_000015.9:g.23049335C>T	VUS	1 lab	c26d3f26cd
X:9707649 GPR143 C>G	X	9707649	9707649	C	G	GPR143	c.996G>C	NM_000273.3	NP_000264.2:p.(Leu332=)	NC_000023.10:g.9707649C>G	(Likely) benign	1 lab	c14aaef1be
5:147492449 SPINK5 AAAAG>A	5	147492449	147492458	AAAAG	A	SPINK5	c.1845_1848del	NM_001127698.2	NP_001121170.1:p.(Arg616LeufsTer98)	NC_000005.9:g.147492455_147492458del	(Likely) pathogenic	1 lab	c14f62e2bc
6:75838071 COL12A1 G>T	6	75838071	75838071	G	T	COL12A1	c.6281C>A	NM_004370.6	NP_004361.3:p.(Thr2094Asn)	NC_000006.11:g.75838071G>T	(Likely) benign	1 lab	c14ffee7b2
8:144297010 GPIHBP1 G>A	8	144297010	144297010	G	A	GPIHBP1	c.295+9G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297010G>A	(Likely) benign	1 lab	c15281fbfb
1:214542819 PTPN14 T>C	1	214542819	214542819	T	C	PTPN14	c.3252A>G	NM_005401.5	NP_005392.2:p.(Glu1084=)	NC_000001.10:g.214542819T>C	(Likely) benign	1 lab	c1549f150b
14:23859446 MYH6 C>T	14	23859446	23859446	C	T	MYH6	c.3552G>A	NM_002471.4	NP_002462.2:p.(Thr1184=)	NC_000014.8:g.23859446C>T	(Likely) benign	1 lab	c1552ce5ac
14:64519053 SYNE2 C>T	14	64519053	64519053	C	T	SYNE2	c.8422C>T	NM_182914.3	NP_878918.2:p.(Leu2808=)	NC_000014.8:g.64519053C>T	(Likely) benign	1 lab	c15791ce3e
2:213335994 ERBB4 Ref too long to show for this DEL>T	2	213335994	213403147	Ref too long to show for this DEL	T	ERBB4	c.82+26_82+67178del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.213335995_213403147del	VUS	1 lab	c15a07e94d
2:44051083 ABCG5 C>T	2	44051083	44051083	C	T	ABCG5	c.1293G>A	NM_022436.3	NP_071881.1:p.(Pro431=)	NC_000002.11:g.44051083C>T	(Likely) benign	1 lab	c15b971bc6
9:328079 DOCK8 G>A	9	328079	328079	G	A	DOCK8	c.952G>A	NM_203447.4	NP_982272.2:p.(Ala318Thr)	NC_000009.11:g.328079G>A	(Likely) benign	1 lab	c16bce27a7
14:23856961 MYH6 G>A	14	23856961	23856961	G	A	MYH6	c.4525+6C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23856961G>A	(Likely) benign	1 lab	c1606476f9
10:63977011 RTKN2 GAAAAA>G	10	63977011	63977029	GAAAAA	G	RTKN2	c.889-8_889-4del	NM_145307.4	NP_660350.2:p.?	NC_000010.10:g.63977025_63977029del	(Likely) benign	1 lab	c1640aa7fa
1:201034997 CACNA1S A>G	1	201034997	201034997	A	G	CACNA1S	c.2822T>C	NM_000069.3	NP_000060.2:p.(Met941Thr)	NC_000001.10:g.201034997A>G	(Likely) benign	1 lab	c164b604ae
16:1756408 MAPK8IP3 C>A	16	1756408	1756408	C	A	MAPK8IP3	c.68C>A	NM_001318852.2	NP_001305781.1:p.(Ser23Ter)	NC_000016.9:g.1756408C>A	(Likely) pathogenic	1 lab	c164baf44c
9:107582340 ABCA1 C>T	9	107582340	107582340	C	T	ABCA1	c.2971G>A	NM_005502.4	NP_005493.2:p.(Glu991Lys)	NC_000009.11:g.107582340C>T	VUS	1 lab	c164c5a616
20:34060560 CEP250 G>A	20	34060560	34060560	G	A	CEP250	c.1113G>A	NM_007186.6	NP_009117.2:p.(Leu371=)	NC_000020.10:g.34060560G>A	VUS	1 lab	c16731f7fb
4:72884309 MISSING Ref too long to show for this DEL>C	4	72884309	73131144	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.72884310_73131144del	VUS	1 lab	c16bbb2eb6
8:19809393 LPL C>T	8	19809393	19809393	C	T	LPL	c.363C>T	NM_000237.3	NP_000228.1:p.(Tyr121=)	NC_000008.10:g.19809393C>T	(Likely) benign	1 lab	c16e59a664
11:108106564 ATM A>G	11	108106564	108106564	A	G	ATM	c.496+3A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108106564A>G	VUS	1 lab	c16fcf64b7
15:75189489 MPI C>T	15	75189489	75189489	C	T	MPI	c.982C>T	NM_002435.3	NP_002426.1:p.(Arg328Trp)	NC_000015.9:g.75189489C>T	(Likely) benign	1 lab	c173458e41
10:18439918 CACNB2 G>A	10	18439918	18439918	G	A	CACNB2	c.129+14G>A	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439918G>A	(Likely) benign	1 lab	c1737fd3f3
12:104119799 MISSING G>Alt too long to show for this DUP	12	104119799	104213189	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.104119800_104213189dup	VUS	1 lab	c1755283f9
10:5568283 MISSING T>Alt too long to show for this DUP	10	5568283	6170783	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.5568285_6170783dup	(Likely) pathogenic	1 lab	c176ae28f9
8:68074097 CSPP1 A>C	8	68074097	68074097	A	C	CSPP1	c.1540A>C	NM_001291339.2	NP_001278268.1:p.(Ser514Arg)	NC_000008.10:g.68074097A>C	(Likely) benign	1 lab	c178b9e519
19:11224022 LDLR T>G	19	11224022	11224022	T	G	LDLR	c.1255T>G	NM_000527.5	NP_000518.1:p.(Tyr419Asp)	NC_000019.9:g.11224022T>G	(Likely) pathogenic	1 lab	c17a3936d4
17:56285332 MKS1 C>A	17	56285332	56285332	C	A	MKS1	c.1196G>T	NM_017777.4	NP_060247.2:p.(Cys399Phe)	NC_000017.10:g.56285332C>A	(Likely) benign	1 lab	c17c52713f
19:50752253 MYH14 G>A	19	50752253	50752253	G	A	MYH14	c.1339G>A	NM_001145809.2	NP_001139281.1:p.(Ala447Thr)	NC_000019.9:g.50752253G>A	VUS	1 lab	c180a3f4c4
5:137729046 KDM3B T>C	5	137729046	137729046	T	C	KDM3B	c.2816T>C	NM_016604.4	NP_057688.3:p.(Phe939Ser)	NC_000005.9:g.137729046T>C	(Likely) pathogenic	1 lab	c181f7d039
10:73455222 CDH23 G>A	10	73455222	73455222	G	A	CDH23	c.2337G>A	NM_022124.6	NP_071407.4:p.(Lys779=)	NC_000010.10:g.73455222G>A	(Likely) benign	1 lab	c18480e65d
9:139327573 INPP5E T>TTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCC	9	139327573	139327608	T	TTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCCC	INPP5E	c.1159+33_1159+34insGGGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGA	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139327607_139327608insCCTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACC	(Likely) benign	1 lab	c187f44cab
3:38051211 PLCD1 G>A	3	38051211	38051211	G	A	PLCD1	c.1442C>T	NM_001130964.2	NP_001124436.1:p.(Ser481Leu)	NC_000003.11:g.38051211G>A	(Likely) benign	1 lab	c188891e14
22:46790074 CELSR1 C>T	22	46790074	46790074	C	T	CELSR1	c.5929G>A	NM_001378328.1	NP_001365257.1:p.(Asp1977Asn)	NC_000022.10:g.46790074C>T	VUS	1 lab	c189087f45
15:67073472 SMAD6 A>G	15	67073472	67073472	A	G	SMAD6	c.1090A>G	NM_005585.5	NP_005576.3:p.(Ser364Gly)	NC_000015.9:g.67073472A>G	VUS	1 lab	c18ba48a11
16:57484939 COQ9 G>A	16	57484939	57484939	G	A	COQ9	c.74-13G>A	NM_020312.4	NP_064708.1:p.?	NC_000016.9:g.57484939G>A	(Likely) benign	1 lab	c18c554319
15:45410225 DUOXA2 C>T	15	45410225	45410225	C	T	DUOXA2	c.*118C>T	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45410225C>T	(Likely) benign	1 lab	c18cd53068
15:73635981 HCN4 G>A	15	73635981	73635981	G	A	HCN4	c.954C>T	NM_005477.3	NP_005468.1:p.(Ile318=)	NC_000015.9:g.73635981G>A	(Likely) benign	1 lab	c1951f66e5
5:60272630 MISSING Ref too long to show for this DEL>A	5	60272630	60459526	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.60272631_60459526del	(Likely) pathogenic	1 lab	c1952ff66b
16:67976822 LCAT G>T	16	67976822	67976822	G	T	LCAT	c.369C>A	NM_000229.2	NP_000220.1:p.(Arg123=)	NC_000016.9:g.67976822G>T	(Likely) benign	1 lab	c1960da819
9:137717868 COL5A1 C>T	9	137717868	137717868	C	T	COL5A1	c.5067+118C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137717868C>T	(Likely) benign	1 lab	c198045f02
6:79656475 PHIP C>A	6	79656475	79656475	C	A	PHIP	c.4323G>T	NM_017934.7	NP_060404.4:p.(Arg1441Ser)	NC_000006.11:g.79656475C>A	(Likely) benign	1 lab	c198e3f630
16:88503988 ZNF469 C>T	16	88503988	88503988	C	T	ZNF469	c.10110C>T	NM_001367624.2	NP_001354553.1:p.(Cys3370=)	NC_000016.9:g.88503988C>T	(Likely) benign	1 lab	c198f445c7
10:90974752 LIPA C>G	10	90974752	90974752	C	G	LIPA	c.1033G>C	NM_000235.4	NP_000226.2:p.(Asp345His)	NC_000010.10:g.90974752C>G	VUS	1 lab	c19976e34a
9:131455045 SET G>C	9	131455045	131455045	G	C	SET	c.378+1G>C	NM_003011.4	NP_003002.2:p.?	NC_000009.11:g.131455045G>C	VUS	1 lab	c19adf41aa
1:25893489 LDLRAP1 C>T	1	25893489	25893489	C	T	LDLRAP1	c.*6C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893489C>T	VUS	1 lab	c19faba74f
2:56094277 EFEMP1 G>A	2	56094277	56094277	G	A	EFEMP1	c.1413C>T	NM_001039348.3	NP_001034437.1:p.(Ser471=)	NC_000002.11:g.56094277G>A	(Likely) benign	1 lab	c1a2d79c20
8:1905099 ARHGEF10 T>C	8	1905099	1905099	T	C	ARHGEF10	c.3777T>C	NM_001308153.2	NP_001295082.1:p.(Gly1259=)	NC_000008.10:g.1905099T>C	(Likely) benign	1 lab	c1a58f1398
7:100410597 EPHB4 G>A	7	100410597	100410597	G	A	EPHB4	c.1890C>T	NM_004444.5	NP_004435.3:p.(Cys630=)	NC_000007.13:g.100410597G>A	(Likely) benign	1 lab	c1a7f890db
9:107620868 ABCA1 T>G	9	107620868	107620868	T	G	ABCA1	c.655A>C	NM_005502.4	NP_005493.2:p.(Arg219=)	NC_000009.11:g.107620868T>G	(Likely) benign	1 lab	c1a85d3a33
14:23865886 MYH6 T>C	14	23865886	23865886	T	C	MYH6	c.2292+17A>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23865886T>C	(Likely) benign	1 lab	c1ac14a9f3
3:123457757 MYLK A>G	3	123457757	123457757	A	G	MYLK	c.575T>C	NM_053025.4	NP_444253.3:p.(Val192Ala)	NC_000003.11:g.123457757A>G	VUS	1 lab	c1ad016374
7:94029204 COL1A2 G>A	7	94029204	94029204	G	A	COL1A2	c.133-304G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94029204G>A	(Likely) benign	1 lab	c1ad3c8cde
11:61533102 MYRF G>A	11	61533102	61533102	G	A	MYRF	c.52G>A	NM_001127392.3	NP_001120864.1:p.(Asp18Asn)	NC_000011.9:g.61533102G>A	(Likely) benign	1 lab	c1ae0c6ff3
16:1004385 LMF1 T>C	16	1004385	1004385	T	C	LMF1	c.148A>G	NM_001352019.2	NP_001338948.1:p.(Met50Val)	NC_000016.9:g.1004385T>C	VUS	1 lab	c1b02eec34
X:6451843 VCX3A G>A	X	6451843	6451843	G	A	VCX3A	c.504C>T	NM_016379.4	NP_057463.2:p.(Ser168=)	NC_000023.10:g.6451843G>A	(Likely) benign	1 lab	c1b07f6b06
15:48786305 FBN1 C>G	15	48786305	48786305	C	G	FBN1	c.2728+96G>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48786305C>G	(Likely) benign	1 lab	c1b59a34b9
19:38964196 RYR1 G>GC	19	38964196	38964202	G	GC	RYR1	c.3951dup	NM_000540.3	NP_000531.2:p.(Ala1318ArgfsTer13)	NC_000019.9:g.38964202dup	(Likely) pathogenic	1 lab	c1b8b03299
10:133816963 MISSING Ref too long to show for this DEL>C	10	133816963	134734068	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.133816965_134734068del	VUS	1 lab	c1b957b485
8:140630623 KCNK9 C>T	8	140630623	140630623	C	T	KCNK9	c.1003G>A	NM_001282534.2	NP_001269463.1:p.(Glu335Lys)	NC_000008.10:g.140630623C>T	VUS	1 lab	c1ba4a5608
8:61764776 CHD7 G>A	8	61764776	61764776	G	A	CHD7	c.5864G>A	NM_017780.4	NP_060250.2:p.(Arg1955Lys)	NC_000008.10:g.61764776G>A	VUS	1 lab	c1baaeab7b
11:47364301 MYBPC3 C>A	11	47364301	47364301	C	A	MYBPC3	c.1458-6G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364301C>A	(Likely) benign	1 lab	c1bc13654e
8:19817088 LPL A>C	8	19817088	19817088	A	C	LPL	c.1139+197A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817088A>C	(Likely) benign	1 lab	c1bd176e0f
17:15142793 PMP22 A>C	17	15142793	15142793	A	C	PMP22	c.314T>G	NM_000304.4	NP_000295.1:p.(Leu105Arg)	NC_000017.10:g.15142793A>C	(Likely) pathogenic	1 lab	c1bd3e60f3
6:123837358 TRDN A>G	6	123837358	123837358	A	G	TRDN	c.485-7T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123837358A>G	(Likely) benign	1 lab	c1c0daa226
2:21232498 APOB T>A	2	21232498	21232498	T	A	APOB	c.7242A>T	NM_000384.3	NP_000375.3:p.(Glu2414Asp)	NC_000002.11:g.21232498T>A	VUS	1 lab	c1c1b1ce2f
12:79429607 SYT1 Ref too long to show for this DEL>A	12	79429607	79465599	Ref too long to show for this DEL	A	SYT1	c.-83-11469_-18+24457del	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79429608_79465599del	VUS	1 lab	c1c660a496
2:21231789 APOB T>C	2	21231789	21231789	T	C	APOB	c.7951A>G	NM_000384.3	NP_000375.3:p.(Thr2651Ala)	NC_000002.11:g.21231789T>C	VUS	1 lab	c1c8a3f5cd
2:98128098 ANKRD36B G>A	2	98128098	98128098	G	A	ANKRD36B	c.3223C>T	NM_025190.4	NP_079466.3:p.(Arg1075Cys)	NC_000002.11:g.98128098G>A	(Likely) benign	1 lab	c1ca11d637
13:102000209 NALCN Ref too long to show for this DEL>A	13	102000209	102011276	Ref too long to show for this DEL	A	NALCN	c.645-13505_645-2439del	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.102000210_102011276del	VUS	1 lab	c1ca731393
9:21815437 MTAP A>C	9	21815437	21815437	A	C	MTAP	c.39A>C	NM_002451.4	NP_002442.2:p.(Gly13=)	NC_000009.11:g.21815437A>C	(Likely) benign	1 lab	c1cdc6f1c0
19:11227263 LDLR C>T	19	11227263	11227263	C	T	LDLR	c.1706-272C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227263C>T	(Likely) benign	1 lab	c1ce8be71a
3:129249801 RHO C>T	3	129249801	129249801	C	T	RHO	c.444C>T	NM_000539.3	NP_000530.1:p.(Phe148=)	NC_000003.11:g.129249801C>T	(Likely) benign	1 lab	c1cf141ed4
1:43913346 SZT2 T>C	1	43913346	43913346	T	C	SZT2	c.9417T>C	NM_001365999.1	NP_001352928.1:p.(Tyr3139=)	NC_000001.10:g.43913346T>C	(Likely) benign	1 lab	c1cf2fe3f2
5:82834398 VCAN C>A	5	82834398	82834398	C	A	VCAN	c.5576C>A	NM_004385.5	NP_004376.2:p.(Ala1859Glu)	NC_000005.9:g.82834398C>A	(Likely) benign	1 lab	c1d20c4f07
5:124077733 MISSING A>Alt too long to show for this DUP	5	124077733	124131748	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.124077734_124131748dup	VUS	1 lab	c1d4439aca
3:53766103 CACNA1D G>A	3	53766103	53766103	G	A	CACNA1D	c.2527G>A	NM_000720.4	NP_000711.1:p.(Val843Met)	NC_000003.11:g.53766103G>A	(Likely) benign	1 lab	c1d4f5bb0d
19:12774533 MAN2B1 G>A	19	12774533	12774533	G	A	MAN2B1	c.747C>T	NM_000528.4	NP_000519.2:p.(Thr249=)	NC_000019.9:g.12774533G>A	(Likely) benign	1 lab	c1d559ae75
2:215657039 BARD1 G>A	2	215657039	215657039	G	A	BARD1	c.346C>T	NM_000465.4	NP_000456.2:p.(His116Tyr)	NC_000002.11:g.215657039G>A	(Likely) benign	1 lab	c1d6ad9271
6:100898209 SIM1 C>T	6	100898209	100898209	C	T	SIM1	c.282G>A	NM_005068.3	NP_005059.2:p.(Val94=)	NC_000006.11:g.100898209C>T	(Likely) benign	1 lab	c1d73136f3
X:106009206 MISSING T>Alt too long to show for this DUP	X	106009206	106215846	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.106009207_106215846dup	VUS	1 lab	c1d80d8495
2:44058921 ABCG5 G>A	2	44058921	44058921	G	A	ABCG5	c.488C>T	NM_022436.3	NP_071881.1:p.(Ser163Phe)	NC_000002.11:g.44058921G>A	VUS	1 lab	c1d8dfc335
7:154002242 DPP6 T>A	7	154002242	154002242	T	A	DPP6	c.244-141057T>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154002242T>A	(Likely) benign	1 lab	c1ddb88fd0
10:13330355 PHYH C>A	10	13330355	13330355	C	A	PHYH	c.378+5G>T	NM_001037537.2	NP_001032626.1:p.?	NC_000010.10:g.13330355C>A	(Likely) pathogenic	1 lab	c1ddeedb15
2:21230046 APOB T>C	2	21230046	21230046	T	C	APOB	c.9694A>G	NM_000384.3	NP_000375.3:p.(Lys3232Glu)	NC_000002.11:g.21230046T>C	(Likely) benign	1 lab	c1de743d01
11:95598814 MTMR2 T>C	11	95598814	95598814	T	C	MTMR2	c.213A>G	NM_016156.6	NP_057240.3:p.(Ala71=)	NC_000011.9:g.95598814T>C	(Likely) benign	1 lab	c1def8caca
1:197390303 CRB1 C>T	1	197390303	197390303	C	T	CRB1	c.1138C>T	NM_001257965.2	NP_001244894.1:p.(Gln380Ter)	NC_000001.10:g.197390303C>T	(Likely) pathogenic	1 lab	c1e2441c19
1:237951306 RYR2 A>G	1	237951306	237951306	A	G	RYR2	c.13347A>G	NM_001035.3	NP_001026.2:p.(Lys4449=)	NC_000001.10:g.237951306A>G	(Likely) benign	1 lab	c1e2762d25
11:47357770 MYBPC3 G>T	11	47357770	47357770	G	T	MYBPC3	c.2603-208C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357770G>T	(Likely) benign	1 lab	c1e3e0e727
1:19565320 EMC1 A>G	1	19565320	19565320	A	G	EMC1	c.1058T>C	NM_001375820.1	NP_001362749.1:p.(Met353Thr)	NC_000001.10:g.19565320A>G	(Likely) benign	1 lab	c1e45c735e
11:47353593 MYBPC3 T>G	11	47353593	47353593	T	G	MYBPC3	c.3814+30A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353593T>G	(Likely) benign	1 lab	c1e5ab49c2
18:47095826 LIPG T>G	18	47095826	47095826	T	G	LIPG	c.479T>G	NM_006033.4	NP_006024.1:p.(Leu160Arg)	NC_000018.9:g.47095826T>G	(Likely) benign	1 lab	c1ee4fa5a5
12:125279732 SCARB1 C>T	12	125279732	125279732	C	T	SCARB1	c.1202+9G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279732C>T	(Likely) benign	1 lab	c1f05620ac
10:90983601 LIPA A>G	10	90983601	90983601	A	G	LIPA	c.676-14T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90983601A>G	(Likely) benign	1 lab	c1f0fe751f
5:82835621 VCAN C>T	5	82835621	82835621	C	T	VCAN	c.6799C>T	NM_004385.5	NP_004376.2:p.(Pro2267Ser)	NC_000005.9:g.82835621C>T	VUS	1 lab	c1f185cd90
14:55625256 MISSING A>Alt too long to show for this DUP	14	55625256	55681968	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.55625258_55681968dup	VUS	1 lab	c1f26f9fdc
17:10310246 MYH8 G>A	17	10310246	10310246	G	A	MYH8	c.2016C>T	NM_002472.3	NP_002463.2:p.(Phe672=)	NC_000017.10:g.10310246G>A	(Likely) benign	1 lab	c1f3c665b2
8:144994445 PLEC T>C	8	144994445	144994445	T	C	PLEC	c.9955A>G	NM_201380.4	NP_958782.1:p.(Ser3319Gly)	NC_000008.10:g.144994445T>C	VUS	1 lab	c1f4c6d09e
11:116706531 APOA1 G>GTGT	11	116706531	116706536	G	GTGT	APOA1	c.467_469dup	NM_001318021.1	NP_001304950.1:p.(Asn156dup)	NC_000011.9:g.116706534_116706536dup	VUS	1 lab	c1f6f449de
12:21331389 SLCO1B1 TTACTTG>T	12	21331389	21331403	TTACTTG	T	SLCO1B1	c.482-112_482-107del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331398_21331403del	(Likely) benign	1 lab	c1fa1e2d4a
4:73185119 ADAMTS3 A>G	4	73185119	73185119	A	G	ADAMTS3	c.1282T>C	NM_014243.3	NP_055058.2:p.(Leu428=)	NC_000004.11:g.73185119A>G	(Likely) benign	1 lab	c1fc103927
9:107599371 ABCA1 T>G	9	107599371	107599371	T	G	ABCA1	c.1201A>C	NM_005502.4	NP_005493.2:p.(Lys401Gln)	NC_000009.11:g.107599371T>G	VUS	1 lab	c1fd7814f8
14:105172468 INF2 C>G	14	105172468	105172468	C	G	INF2	c.798C>G	NM_022489.4	NP_071934.3:p.(Val266=)	NC_000014.8:g.105172468C>G	(Likely) benign	1 lab	c1ffa32e5b
6:56427004 DST A>G	6	56427004	56427004	A	G	DST	c.7649-6T>C	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56427004A>G	(Likely) benign	1 lab	c2015e59e0
1:55518317 PCSK9 G>T	1	55518317	55518317	G	T	PCSK9	c.658-6G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518317G>T	VUS	1 lab	c20221895a
11:116660983 APOA5 T>A	11	116660983	116660983	T	A	APOA5	c.962A>T	NM_052968.5	NP_443200.2:p.(His321Leu)	NC_000011.9:g.116660983T>A	VUS	1 lab	c20768cc5d
15:58724327 LIPC C>A	15	58724327	58724327	C	A	LIPC	c.88+8C>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724327C>A	(Likely) benign	1 lab	c20d495f8b
10:85955337 CDHR1 C>A	10	85955337	85955337	C	A	CDHR1	c.143C>A	NM_033100.4	NP_149091.1:p.(Thr48Asn)	NC_000010.10:g.85955337C>A	VUS	1 lab	c20da5a96b
10:53822301 PRKG1 A>G	10	53822301	53822301	A	G	PRKG1	c.800A>G	NM_001098512.3	NP_001091982.1:p.(Asn267Ser)	NC_000010.10:g.53822301A>G	(Likely) benign	1 lab	c20de32bf7
X:70147815 SLC7A3 C>G	X	70147815	70147815	C	G	SLC7A3	c.876G>C	NM_032803.6	NP_116192.4:p.(Leu292=)	NC_000023.10:g.70147815C>G	(Likely) benign	1 lab	c210b5c01e
5:133942769 SAR1B A>G	5	133942769	133942769	A	G	SAR1B	c.481-13T>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133942769A>G	(Likely) benign	1 lab	c210c8e767
2:179412038 TTN T>C	2	179412038	179412038	T	C	TTN	c.94220-6A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179412038T>C	(Likely) benign	1 lab	c2125a52d4
6:99955301 USP45 T>C	6	99955301	99955301	T	C	USP45	c.377+3A>G	NM_001080481.3	NP_001073950.1:p.?	NC_000006.11:g.99955301T>C	VUS	1 lab	c2137da261
8:19811711 LPL G>A	8	19811711	19811711	G	A	LPL	c.622G>A	NM_000237.3	NP_000228.1:p.(Val208Ile)	NC_000008.10:g.19811711G>A	VUS	1 lab	c215a94398
11:118007832 SCN4B C>T	11	118007832	118007832	C	T	SCN4B	c.597G>A	NM_174934.4	NP_777594.1:p.(Lys199=)	NC_000011.9:g.118007832C>T	(Likely) benign	1 lab	c21a48bdf7
12:113906104 LHX5 T>C	12	113906104	113906104	T	C	LHX5	c.503A>G	NM_022363.3	NP_071758.1:p.(Asn168Ser)	NC_000012.11:g.113906104T>C	VUS	1 lab	c21bdb83f5
10:81640793 MISSING A>Alt too long to show for this DUP	10	81640793	81976703	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.81640794_81976703dup	VUS	1 lab	c21d600e0c
16:929676 LMF1 C>T	16	929676	929676	C	T	LMF1	c.791G>A	NM_022773.4	NP_073610.2:p.(Arg264His)	NC_000016.9:g.929676C>T	VUS	1 lab	c21e246861
X:12735193 FRMPD4 C>T	X	12735193	12735193	C	T	FRMPD4	c.2615C>T	NM_014728.3	NP_055543.2:p.(Thr872Met)	NC_000023.10:g.12735193C>T	VUS	1 lab	c223c9b906
7:150645519 KCNH2 T>C	7	150645519	150645519	T	C	KCNH2	c.2692+13A>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645519T>C	(Likely) benign	1 lab	c226c65a61
3:10070374 FANCD2 G>A	3	10070374	10070374	G	A	FANCD2	c.33G>A	NM_033084.6	NP_149075.2:p.(Glu11=)	NC_000003.11:g.10070374G>A	(Likely) benign	1 lab	c2297ff734
14:23876437 MYH6 G>T	14	23876437	23876437	G	T	MYH6	c.-5C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23876437G>T	(Likely) benign	1 lab	c229e57a61
3:10140053 MISSING Ref too long to show for this DEL>T	3	10140053	11131255	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.10140054_11131255del	(Likely) pathogenic	1 lab	c22b954b7f
2:189869026 COL3A1 G>A	2	189869026	189869026	G	A	COL3A1	c.2867G>A	NM_000090.4	NP_000081.2:p.(Arg956Gln)	NC_000002.11:g.189869026G>A	VUS	1 lab	c22c53547d
10:91007470 LIPA C>A	10	91007470	91007470	C	A	LIPA	c.-1-64G>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007470C>A	(Likely) benign	1 lab	c22e13934f
4:15991363 PROM1 G>A	4	15991363	15991363	G	A	PROM1	c.2068C>T	NM_006017.3	NP_006008.1:p.(Gln690Ter)	NC_000004.11:g.15991363G>A	(Likely) pathogenic	1 lab	c22eadb925
19:47111516 CALM3 T>C	19	47111516	47111516	T	C	CALM3	c.97T>C	NM_005184.4	NP_005175.2:p.(Leu33=)	NC_000019.9:g.47111516T>C	(Likely) benign	1 lab	c231fc1339
1:1417574 ATAD3B A>G	1	1417574	1417574	A	G	ATAD3B	c.571A>G	NM_031921.6	NP_114127.3:p.(Thr191Ala)	NC_000001.10:g.1417574A>G	(Likely) benign	1 lab	c233f933de
20:47211796 MISSING A>Alt too long to show for this DUP	20	47211796	47288240	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.47211801_47288240dup	VUS	1 lab	c2345a400b
8:134031844 TG C>T	8	134031844	134031844	C	T	TG	c.6783-3C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134031844C>T	(Likely) benign	1 lab	c23855562d
7:91715698 AKAP9 C>T	7	91715698	91715698	C	T	AKAP9	c.9181C>T	NM_005751.5	NP_005742.4:p.(Leu3061=)	NC_000007.13:g.91715698C>T	(Likely) benign	1 lab	c2389de249
1:156838350 NTRK1 G>A	1	156838350	156838350	G	A	NTRK1	c.628G>A	NM_002529.4	NP_002520.2:p.(Asp210Asn)	NC_000001.10:g.156838350G>A	VUS	1 lab	c23bd33f58
6:32487193 HLA-DRB5 G>A	6	32487193	32487193	G	A	HLA-DRB5	c.606C>T	NM_002125.4	NP_002116.2:p.(Cys202=)	NC_000006.11:g.32487193G>A	(Likely) benign	1 lab	c23bfdbef6
17:56439995 RNF43 C>T	17	56439995	56439995	C	T	RNF43	c.597G>A	NM_017763.6	NP_060233.3:p.(Val199=)	NC_000017.10:g.56439995C>T	(Likely) benign	1 lab	c23c63b9e1
2:179433832 TTN G>GT	2	179433832	179433833	G	GT	TTN	c.77026dup	NM_001267550.2	NP_001254479.2:p.(Thr25676AsnfsTer3)	NC_000002.11:g.179433833dup	(Likely) pathogenic	1 lab	c24201c0d9
1:179852074 TOR1AIP1 T>C	1	179852074	179852074	T	C	TOR1AIP1	c.437T>C	NM_001267578.2	NP_001254507.1:p.(Met146Thr)	NC_000001.10:g.179852074T>C	(Likely) benign	1 lab	c246bdf7e6
9:107549630 ABCA1 CT>C	9	107549630	107549641	CT	C	ABCA1	c.6205-374del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549641del	(Likely) benign	1 lab	c248539254
8:75401014 GDAP1 A>G	8	75401014	75401014	A	G	GDAP1	c.*4A>G	NM_001362931.2	NP_001349860.1:p.?	NC_000008.10:g.75401014A>G	(Likely) benign	1 lab	c24bdc234a
5:138160340 CTNNA1 A>G	5	138160340	138160340	A	G	CTNNA1	c.710A>G	NM_001903.5	NP_001894.2:p.(Tyr237Cys)	NC_000005.9:g.138160340A>G	VUS	1 lab	c24c9010e0
1:216424227 USH2A C>T	1	216424227	216424227	C	T	USH2A	c.2167+18G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216424227C>T	(Likely) benign	1 lab	c250d815b1
9:124535576 DAB2IP A>C	9	124535576	124535576	A	C	DAB2IP	c.2685A>C	NM_032552.4	NP_115941.2:p.(Pro895=)	NC_000009.11:g.124535576A>C	(Likely) benign	1 lab	c2517f6089
15:58855935 LIPC T>G	15	58855935	58855935	T	G	LIPC	c.1388+13T>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855935T>G	(Likely) benign	1 lab	c25186713f
16:1005129 LMF1 C>T	16	1005129	1005129	C	T	LMF1	c.-361-463G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005129C>T	(Likely) benign	1 lab	c254ba4568
3:119134908 ARHGAP31 A>G	3	119134908	119134908	A	G	ARHGAP31	c.4132A>G	NM_020754.4	NP_065805.2:p.(Ser1378Gly)	NC_000003.11:g.119134908A>G	(Likely) benign	1 lab	c2583659e2
19:11217372 LDLR T>C	19	11217372	11217372	T	C	LDLR	c.817+9T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217372T>C	(Likely) benign	1 lab	c31fc3c234
9:139094805 LHX3 C>T	9	139094805	139094805	C	T	LHX3	c.81G>A	NM_014564.5	NP_055379.1:p.(Ala27=)	NC_000009.11:g.139094805C>T	(Likely) benign	1 lab	c2599d0fb7
15:52643444 MYO5A C>T	15	52643444	52643444	C	T	MYO5A	c.3849+7G>A	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52643444C>T	(Likely) benign	1 lab	c25d61a65a
16:921293 LMF1 T>C	16	921293	921293	T	C	LMF1	c.946A>G	NM_022773.4	NP_073610.2:p.(Met316Val)	NC_000016.9:g.921293T>C	VUS	1 lab	c25e07d55e
2:179640523 TTN T>C	2	179640523	179640523	T	C	TTN	c.6068A>G	NM_133378.4	NP_596869.4:p.(Lys2023Arg)	NC_000002.11:g.179640523T>C	VUS	1 lab	c25f69a3b1
11:40860084 LRRC4C Ref too long to show for this DEL>A	11	40860084	41066641	Ref too long to show for this DEL	A	LRRC4C	c.-495-111366_-407+95100del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40860087_41066641del	VUS	1 lab	c2606cd844
17:41276038 BRCA1 TGGGACACTC>T	17	41276038	41276047	TGGGACACTC	T	BRCA1	c.67_75del	NM_007294.4	NP_009225.1:p.(Glu23_Pro25del)	NC_000017.10:g.41276039_41276047del	(Likely) pathogenic	1 lab	c262628b3b
1:186039844 HMCN1 G>A	1	186039844	186039844	G	A	HMCN1	c.8094G>A	NM_031935.3	NP_114141.2:p.(Ala2698=)	NC_000001.10:g.186039844G>A	(Likely) benign	1 lab	c2687f3367
12:111351981 MYL2 C>CAT	12	111351981	111351982	C	CAT	MYL2	c.274+8_274+9insAT	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351981_111351982insAT	(Likely) benign	1 lab	c26ca56ed4
16:22163907 MISSING A>Alt too long to show for this DUP	16	22163907	22176302	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.22163908_22176302dup	VUS	1 lab	c26e9dcf56
15:63363351 TPM1 C>T	15	63363351	63363351	C	T	TPM1	c.961C>T	NM_001365778.1	NP_001352707.1:p.(Leu321=)	NC_000015.9:g.63363351C>T	(Likely) benign	1 lab	c27090649b
21:46876083 COL18A1 A>G	21	46876083	46876083	A	G	COL18A1	c.639A>G	NM_130444.3	NP_569711.2:p.(Pro213=)	NC_000021.8:g.46876083A>G	(Likely) benign	1 lab	c272173f1b
15:45387667 DUOX2 A>T	15	45387667	45387667	A	T	DUOX2	c.4207T>A	NM_014080.5	NP_054799.4:p.(Ser1403Thr)	NC_000015.9:g.45387667A>T	VUS	1 lab	c272829de4
X:135960146 RBMX G>GAA	X	135960146	135960148	G	GAA	RBMX	c.315_316insTT	NM_002139.4	NP_002130.2:p.(Pro106PhefsTer32)	NC_000023.10:g.135960147_135960148insAA	(Likely) benign	1 lab	c28084565a
3:9781212 BRPF1 A>G	3	9781212	9781212	A	G	BRPF1	c.1129A>G	NM_001003694.2	NP_001003694.1:p.(Ile377Val)	NC_000003.11:g.9781212A>G	VUS	1 lab	c2817b730e
3:38766741 SCN10A C>T	3	38766741	38766741	C	T	SCN10A	c.3152G>A	NM_006514.4	NP_006505.4:p.(Gly1051Glu)	NC_000003.11:g.38766741C>T	(Likely) benign	1 lab	c28206b6d0
21:34072139 SYNJ1 T>C	21	34072139	34072139	T	C	SYNJ1	c.596+9A>G	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34072139T>C	(Likely) benign	1 lab	c2847799cc
2:179410150 TTN T>A	2	179410150	179410150	T	A	TTN	c.95687A>T	NM_001267550.2	NP_001254479.2:p.(Glu31896Val)	NC_000002.11:g.179410150T>A	VUS	1 lab	c2856e9844
11:88911685 TYR G>A	11	88911685	88911685	G	A	TYR	c.564G>A	NM_000372.5	NP_000363.1:p.(Leu188=)	NC_000011.9:g.88911685G>A	(Likely) benign	1 lab	c285a9a20e
8:145001267 PLEC G>A	8	145001267	145001267	G	A	PLEC	c.4252-18C>T	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145001267G>A	(Likely) benign	1 lab	c288d473fb
12:124358140 DNAH10 G>A	12	124358140	124358140	G	A	DNAH10	c.7467G>A	NM_207437.3	NP_997320.2:p.(Thr2489=)	NC_000012.11:g.124358140G>A	(Likely) benign	1 lab	c28a2d5dbb
19:40374025 FCGBP A>C	19	40374025	40374025	A	C	FCGBP	c.12053T>G	NM_003890.2	NP_003881.2:p.(Val4018Gly)	NC_000019.9:g.40374025A>C	(Likely) benign	1 lab	c28dae6153
16:15842023 MYH11 G>A	16	15842023	15842023	G	A	MYH11	c.2082C>T	NM_001040113.2	NP_001035202.1:p.(Ser694=)	NC_000016.9:g.15842023G>A	(Likely) benign	1 lab	c28ed2e8e9
19:55316414 KIR2DL4 T>C	19	55316414	55316414	T	C	KIR2DL4	c.243T>C	NM_001080772.2	NP_001074241.1:p.(Ser81=)	NC_000019.9:g.55316414T>C	(Likely) benign	1 lab	c2907e0a01
1:63069706 ANGPTL3 T>G	1	63069706	63069706	T	G	ANGPTL3	c.998T>G	NM_014495.4	NP_055310.1:p.(Ile333Ser)	NC_000001.10:g.63069706T>G	VUS	1 lab	c291395817
14:75497428 MLH3 T>TA	14	75497428	75497439	T	TA	MLH3	c.3828-24dup	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75497439dup	(Likely) benign	1 lab	c29170b17d
16:89351590 ANKRD11 CTTTA>C	16	89351590	89351597	CTTTA	C	ANKRD11	c.1356_1359del	NM_001256182.2	NP_001243111.1:p.(Asn452LysfsTer2)	NC_000016.9:g.89351594_89351597del	(Likely) pathogenic	1 lab	c2935e18a1
2:21231764 APOB G>A	2	21231764	21231764	G	A	APOB	c.7976C>T	NM_000384.3	NP_000375.3:p.(Pro2659Leu)	NC_000002.11:g.21231764G>A	VUS	1 lab	c293948a29
17:41246871 BRCA1 C>T	17	41246871	41246871	C	T	BRCA1	c.677G>A	NM_007294.4	NP_009225.1:p.(Cys226Tyr)	NC_000017.10:g.41246871C>T	(Likely) benign	1 lab	c293efe432
3:52365225 DNAH1 C>T	3	52365225	52365225	C	T	DNAH1	c.933C>T	NM_015512.5	NP_056327.4:p.(Asp311=)	NC_000003.11:g.52365225C>T	(Likely) benign	1 lab	c294cf3f1a
22:39626221 PDGFB C>T	22	39626221	39626221	C	T	PDGFB	c.469G>A	NM_002608.4	NP_002599.1:p.(Glu157Lys)	NC_000022.10:g.39626221C>T	(Likely) benign	1 lab	c296287d91
9:107558354 ABCA1 G>A	9	107558354	107558354	G	A	ABCA1	c.5362C>T	NM_005502.4	NP_005493.2:p.(Leu1788=)	NC_000009.11:g.107558354G>A	(Likely) benign	1 lab	c296d2e3da
16:2138622 TSC2 C>T	16	2138622	2138622	C	T	TSC2	c.*11C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2138622C>T	VUS	1 lab	c297c6fd0a
8:59404292 CYP7A1 T>C	8	59404292	59404292	T	C	CYP7A1	c.1257A>G	NM_000780.4	NP_000771.2:p.(Thr419=)	NC_000008.10:g.59404292T>C	(Likely) benign	1 lab	c298c2ff71
X:47024574 MISSING T>Alt too long to show for this DUP	X	47024574	47055538	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47024576_47055538dup	VUS	1 lab	c2994df86f
11:1775272 CTSD C>A	11	1775272	1775272	C	A	CTSD	c.924G>T	NM_001909.5	NP_001900.1:p.(Val308=)	NC_000011.9:g.1775272C>A	(Likely) benign	1 lab	c29a3a2e64
2:179473568 TTN C>T	2	179473568	179473568	C	T	TTN	c.52170G>A	NM_001267550.2	NP_001254479.2:p.(Trp17390Ter)	NC_000002.11:g.179473568C>T	(Likely) pathogenic	1 lab	c29d8599d5
19:36212130 KMT2B T>C	19	36212130	36212130	T	C	KMT2B	c.1881T>C	NM_014727.3	NP_055542.1:p.(Pro627=)	NC_000019.9:g.36212130T>C	(Likely) benign	1 lab	c2a389f87c
20:13074125 SPTLC3 G>A	20	13074125	13074125	G	A	SPTLC3	c.733-6G>A	NM_001349945.2	NP_001336874.1:p.?	NC_000020.10:g.13074125G>A	(Likely) benign	1 lab	c2ae58575e
7:138604149 KIAA1549 A>G	7	138604149	138604149	A	G	KIAA1549	c.223T>C	NM_001164665.2	NP_001158137.1:p.(Tyr75His)	NC_000007.13:g.138604149A>G	(Likely) benign	1 lab	c2b50d7a47
9:107573173 ABCA1 G>C	9	107573173	107573173	G	C	ABCA1	c.4083C>G	NM_005502.4	NP_005493.2:p.(Ala1361=)	NC_000009.11:g.107573173G>C	(Likely) benign	1 lab	c2b63157ac
16:57017243 CETP G>A	16	57017243	57017243	G	A	CETP	c.1327G>A	NM_000078.3	NP_000069.2:p.(Glu443Lys)	NC_000016.9:g.57017243G>A	VUS	1 lab	c2b76ab8cb
14:23862194 MYH6 C>T	14	23862194	23862194	C	T	MYH6	c.3178G>A	NM_002471.4	NP_002462.2:p.(Asp1060Asn)	NC_000014.8:g.23862194C>T	VUS	1 lab	c4331a4c11
7:73466075 ELN A>T	7	73466075	73466075	A	T	ELN	c.800-5A>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73466075A>T	(Likely) benign	1 lab	c2baf204aa
4:100532541 MTTP T>C	4	100532541	100532541	T	C	MTTP	c.1920T>C	NM_000253.4	NP_000244.2:p.(Ser640=)	NC_000004.11:g.100532541T>C	(Likely) benign	1 lab	c2bc542ae7
5:82816345 VCAN T>C	5	82816345	82816345	T	C	VCAN	c.2220T>C	NM_004385.5	NP_004376.2:p.(Ser740=)	NC_000005.9:g.82816345T>C	(Likely) benign	1 lab	c2bf25e9ed
2:44079544 ABCG8 G>A	2	44079544	44079544	G	A	ABCG8	c.613G>A	NM_022437.3	NP_071882.1:p.(Val205Met)	NC_000002.11:g.44079544G>A	VUS	1 lab	c2c3245179
19:7527207 ARHGEF18 G>A	19	7527207	7527207	G	A	ARHGEF18	c.2622G>A	NM_001367823.1	NP_001354752.1:p.(Ser874=)	NC_000019.9:g.7527207G>A	(Likely) benign	1 lab	c2c468b65e
17:27579106 CRYBA1 C>T	17	27579106	27579106	C	T	CRYBA1	c.240C>T	NM_005208.5	NP_005199.2:p.(Ser80=)	NC_000017.10:g.27579106C>T	(Likely) benign	1 lab	c2c5eb7041
3:37774229 ITGA9 G>C	3	37774229	37774229	G	C	ITGA9	c.2094G>C	NM_002207.3	NP_002198.2:p.(Leu698=)	NC_000003.11:g.37774229G>C	(Likely) benign	1 lab	c2c62fcea6
2:44047134 ABCG5 G>A	2	44047134	44047134	G	A	ABCG5	c.1569C>T	NM_022436.3	NP_071881.1:p.(Ile523=)	NC_000002.11:g.44047134G>A	(Likely) benign	1 lab	c2cafcf20a
17:39914997 JUP G>A	17	39914997	39914997	G	A	JUP	c.1623C>T	NM_001352773.2	NP_001339702.1:p.(His541=)	NC_000017.10:g.39914997G>A	(Likely) benign	1 lab	c2cc0e01a0
2:21238431 APOB A>T	2	21238431	21238431	A	T	APOB	c.3333-14T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238431A>T	(Likely) benign	1 lab	c2d0d2d398
X:130592474 MISSING A>Alt too long to show for this DUP	X	130592474	130980665	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.130592475_130980665dup	VUS	1 lab	c2d131126f
7:107546804 DLD T>C	7	107546804	107546804	T	C	DLD	c.675T>C	NM_000108.5	NP_000099.2:p.(Gly225=)	NC_000007.13:g.107546804T>C	(Likely) benign	1 lab	c2d1858acb
9:104187041 ALDOB A>G	9	104187041	104187041	A	G	ALDOB	c.999+84T>C	NM_000035.4	NP_000026.2:p.?	NC_000009.11:g.104187041A>G	(Likely) benign	1 lab	c2d378ea8c
2:44078805 ABCG8 TG>T	2	44078805	44078808	TG	T	ABCG8	c.408del	NM_022437.3	NP_071882.1:p.(Gln137SerfsTer8)	NC_000002.11:g.44078808del	(Likely) pathogenic	1 lab	c2d6859096
2:179610745 TTN T>C	2	179610745	179610745	T	C	TTN	c.10360+7106A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179610745T>C	(Likely) benign	1 lab	c2db4e96fe
6:28072853 MISSING Ref too long to show for this DEL>A	6	28072853	28098026	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.28072854_28098026del	VUS	1 lab	c2dbfb74e7
10:92675571 ANKRD1 CGATAA>C	10	92675571	92675579	CGATAA	C	ANKRD1	c.713_717del	NM_014391.3	NP_055206.2:p.(Leu238ArgfsTer3)	NC_000010.10:g.92675575_92675579del	(Likely) benign	1 lab	c2de6a62f1
19:11224000 LDLR G>A	19	11224000	11224000	G	A	LDLR	c.1233G>A	NM_000527.5	NP_000518.1:p.(Lys411=)	NC_000019.9:g.11224000G>A	(Likely) benign	1 lab	c2e0304497
10:69926338 MYPN G>A	10	69926338	69926338	G	A	MYPN	c.1888G>A	NM_032578.4	NP_115967.2:p.(Glu630Lys)	NC_000010.10:g.69926338G>A	VUS	1 lab	c2e203ae47
18:25565157 CDH2 T>A	18	25565157	25565157	T	A	CDH2	c.2016A>T	NM_001792.5	NP_001783.2:p.(Glu672Asp)	NC_000018.9:g.25565157T>A	VUS	1 lab	c2e2825a83
14:97313669 VRK1 A>G	14	97313669	97313669	A	G	VRK1	c.362A>G	NM_003384.3	NP_003375.1:p.(Lys121Arg)	NC_000014.8:g.97313669A>G	VUS	1 lab	c2e2aa5630
19:11233861 LDLR G>A	19	11233861	11233861	G	A	LDLR	c.2152G>A	NM_000527.5	NP_000518.1:p.(Ala718Thr)	NC_000019.9:g.11233861G>A	VUS	1 lab	c2e73022aa
1:237791114 RYR2 G>A	1	237791114	237791114	G	A	RYR2	c.6174G>A	NM_001035.3	NP_001026.2:p.(Leu2058=)	NC_000001.10:g.237791114G>A	(Likely) benign	1 lab	c2e8332b23
19:11324965 DOCK6 C>T	19	11324965	11324965	C	T	DOCK6	c.4324G>A	NM_020812.4	NP_065863.2:p.(Ala1442Thr)	NC_000019.9:g.11324965C>T	(Likely) benign	1 lab	c2e8e6a469
8:144295591 GPIHBP1 G>C	8	144295591	144295591	G	C	GPIHBP1	c.53-106G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295591G>C	(Likely) benign	1 lab	c2e9b1e9c2
3:53700453 CACNA1D G>A	3	53700453	53700453	G	A	CACNA1D	c.1007G>A	NM_000720.4	NP_000711.1:p.(Gly336Asp)	NC_000003.11:g.53700453G>A	VUS	1 lab	c2e9dc4897
3:52486285 TNNC1 G>A	3	52486285	52486285	G	A	TNNC1	c.56-17C>T	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52486285G>A	(Likely) benign	1 lab	c2ea173358
15:52609367 MYO5A T>C	15	52609367	52609367	T	C	MYO5A	c.5212A>G	NM_000259.3	NP_000250.3:p.(Ser1738Gly)	NC_000015.9:g.52609367T>C	VUS	1 lab	c2ed845a4a
8:133953625 TG C>T	8	133953625	133953625	C	T	TG	c.5071C>T	NM_003235.5	NP_003226.4:p.(Arg1691Cys)	NC_000008.10:g.133953625C>T	(Likely) benign	1 lab	c2eddb28a6
19:13397344 CACNA1A G>A	19	13397344	13397344	G	A	CACNA1A	c.3538C>T	NM_023035.3	NP_075461.2:p.(Pro1180Ser)	NC_000019.9:g.13397344G>A	VUS	1 lab	c2ee562266
X:70443723 GJB1 C>T	X	70443723	70443723	C	T	GJB1	c.166C>T	NM_000166.6	NP_000157.1:p.(Leu56Phe)	NC_000023.10:g.70443723C>T	(Likely) pathogenic	1 lab	c2ef42c2e9
12:59268131 LRIG3 G>GT	12	59268131	59268132	G	GT	LRIG3	c.2840-20dup	NM_153377.5	NP_700356.2:p.?	NC_000012.11:g.59268132dup	(Likely) benign	1 lab	c2f1e36c11
X:153416537 OPN1LW A>C	X	153416537	153416537	A	C	OPN1LW	c.409+113A>C	NM_020061.6	NP_064445.2:p.?	NC_000023.10:g.153416537A>C	(Likely) benign	1 lab	c2f45d8a09
14:36987106 NKX2-1 GGC>G	14	36987106	36987110	GGC	G	NKX2-1	c.491_492del	NM_003317.4	NP_003308.1:p.(Arg164ProfsTer244)	NC_000014.8:g.36987109_36987110del	(Likely) pathogenic	1 lab	c2f962e908
14:102489136 DYNC1H1 G>A	14	102489136	102489136	G	A	DYNC1H1	c.8556G>A	NM_001376.5	NP_001367.2:p.(Thr2852=)	NC_000014.8:g.102489136G>A	(Likely) benign	1 lab	c2fb95d4ba
11:18313182 HPS5 T>C	11	18313182	18313182	T	C	HPS5	c.2247A>G	NM_181507.2	NP_852608.1:p.(Val749=)	NC_000011.9:g.18313182T>C	(Likely) benign	1 lab	c2fe942ee4
16:89351728 ANKRD11 A>T	16	89351728	89351728	A	T	ANKRD11	c.1222T>A	NM_001256182.2	NP_001243111.1:p.(Ser408Thr)	NC_000016.9:g.89351728A>T	VUS	1 lab	c300999758
6:32489755 HLA-DRB5 G>GCT	6	32489755	32489756	G	GCT	HLA-DRB5	c.296_297insAG	NM_002125.4	NP_002116.2:p.(Asp99GlufsTer31)	NC_000006.11:g.32489755_32489756insCT	(Likely) benign	1 lab	c3021d0b9c
2:179547542 TTN A>C	2	179547542	179547542	A	C	TTN	c.32976T>G	NM_001267550.2	NP_001254479.2:p.(Tyr10992Ter)	NC_000002.11:g.179547542A>C	VUS	1 lab	c3028b2a07
5:176637827 NSD1 G>A	5	176637827	176637827	G	A	NSD1	c.2427G>A	NM_022455.5	NP_071900.2:p.(Glu809=)	NC_000005.9:g.176637827G>A	(Likely) benign	1 lab	c3033789a4
15:67463142 SMAD3 A>C	15	67463142	67463142	A	C	SMAD3	c.658+200A>C	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67463142A>C	(Likely) benign	1 lab	c309041995
12:125279723 SCARB1 C>T	12	125279723	125279723	C	T	SCARB1	c.1202+18G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279723C>T	(Likely) benign	1 lab	c30ce81e01
2:44073455 ABCG8 C>G	2	44073455	44073455	C	G	ABCG8	c.322+5C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073455C>G	(Likely) benign	1 lab	c30e31c630
17:58235440 CA4 G>A	17	58235440	58235440	G	A	CA4	c.532G>A	NM_000717.5	NP_000708.1:p.(Glu178Lys)	NC_000017.10:g.58235440G>A	VUS	1 lab	c30e49c682
5:95748085 PCSK1 A>G	5	95748085	95748085	A	G	PCSK1	c.819T>C	NM_000439.5	NP_000430.3:p.(Asp273=)	NC_000005.9:g.95748085A>G	(Likely) benign	1 lab	c30fd40d21
19:11238767 LDLR C>T	19	11238767	11238767	C	T	LDLR	c.2389+6C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238767C>T	(Likely) benign	1 lab	c31092372b
19:11217264 LDLR G>T	19	11217264	11217264	G	T	LDLR	c.718G>T	NM_000527.5	NP_000518.1:p.(Glu240Ter)	NC_000019.9:g.11217264G>T	(Likely) pathogenic	1 lab	c311671077
2:179470434 TTN G>A	2	179470434	179470434	G	A	TTN	c.53588C>T	NM_001267550.2	NP_001254479.2:p.(Pro17863Leu)	NC_000002.11:g.179470434G>A	VUS	1 lab	c312bc0ed4
11:2683452 KCNQ1OT1 C>A	11	2683452	2683452	C	A	KCNQ1OT1	n.37777G>T	NR_002728.3		NC_000011.9:g.2683452C>A	(Likely) benign	1 lab	c31529b740
16:67977997 LCAT G>A	16	67977997	67977997	G	A	LCAT	c.8C>T	NM_000229.2	NP_000220.1:p.(Pro3Leu)	NC_000016.9:g.67977997G>A	(Likely) benign	1 lab	c316bf91b5
18:34205457 FHOD3 G>A	18	34205457	34205457	G	A	FHOD3	c.958-17G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34205457G>A	(Likely) benign	1 lab	c31a7f94bb
1:216019315 USH2A G>C	1	216019315	216019315	G	C	USH2A	c.8906C>G	NM_206933.4	NP_996816.3:p.(Ser2969Ter)	NC_000001.10:g.216019315G>C	(Likely) pathogenic	1 lab	c31bb0a982
11:85367449 TMEM126A G>A	11	85367449	85367449	G	A	TMEM126A	c.492G>A	NM_032273.4	NP_115649.1:p.(Leu164=)	NC_000011.9:g.85367449G>A	(Likely) benign	1 lab	c31fc3ef1a
2:175618962 CHRNA1 G>A	2	175618962	175618962	G	A	CHRNA1	c.525C>T	NM_000079.4	NP_000070.1:p.(Val175=)	NC_000002.11:g.175618962G>A	(Likely) benign	1 lab	c322c81009
7:150648672 KCNH2 G>A	7	150648672	150648672	G	A	KCNH2	c.1809C>T	NM_000238.4	NP_000229.1:p.(Gly603=)	NC_000007.13:g.150648672G>A	(Likely) benign	1 lab	c3235a99a6
5:95746544 PCSK1 G>A	5	95746544	95746544	G	A	PCSK1	c.1029C>T	NM_000439.5	NP_000430.3:p.(Tyr343=)	NC_000005.9:g.95746544G>A	(Likely) benign	1 lab	c323da8a34
9:107555606 ABCA1 G>A	9	107555606	107555606	G	A	ABCA1	c.5507-25C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555606G>A	(Likely) benign	1 lab	c324990e12
5:148406615 SH3TC2 G>A	5	148406615	148406615	G	A	SH3TC2	c.2680C>T	NM_024577.4	NP_078853.2:p.(Pro894Ser)	NC_000005.9:g.148406615G>A	(Likely) pathogenic	1 lab	c32584f13b
16:918997 LMF1 G>A	16	918997	918997	G	A	LMF1	c.1396C>T	NM_001352020.1	NP_001338949.1:p.(Arg466Ter)	NC_000016.9:g.918997G>A	(Likely) benign	1 lab	c325babe99
2:179517255 TTN C>G	2	179517255	179517255	C	G	TTN	c.39057G>C	NM_001267550.2	NP_001254479.2:p.(Pro13019=)	NC_000002.11:g.179517255C>G	(Likely) benign	1 lab	c3281ba26f
16:68855968 CDH1 C>T	16	68855968	68855968	C	T	CDH1	c.1776C>T	NM_004360.5	NP_004351.1:p.(Ala592=)	NC_000016.9:g.68855968C>T	(Likely) benign	1 lab	c328256371
1:46658328 POMGNT1 A>G	1	46658328	46658328	A	G	POMGNT1	c.1212-66T>C	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46658328A>G	(Likely) benign	1 lab	c328e06b67
3:184033620 EIF4G1 C>T	3	184033620	184033620	C	T	EIF4G1	c.36C>T	NM_182917.4	NP_886553.3:p.(Pro12=)	NC_000003.11:g.184033620C>T	(Likely) benign	1 lab	c32ab4d85a
15:48749036 FBN1 C>T	15	48749036	48749036	C	T	FBN1	c.5297-77G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48749036C>T	(Likely) benign	1 lab	c32deb75ea
19:50916677 POLD1 C>T	19	50916677	50916677	C	T	POLD1	c.2155-6C>T	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50916677C>T	(Likely) benign	1 lab	c32e9eaf79
14:102452240 DYNC1H1 G>T	14	102452240	102452240	G	T	DYNC1H1	c.1678G>T	NM_001376.5	NP_001367.2:p.(Val560Leu)	NC_000014.8:g.102452240G>T	VUS	1 lab	c32f817e90
2:97426842 CNNM4 C>T	2	97426842	97426842	C	T	CNNM4	c.106C>T	NM_020184.4	NP_064569.3:p.(Arg36Trp)	NC_000002.11:g.97426842C>T	VUS	1 lab	c330c1ea5a
1:103412618 COL11A1 A>T	1	103412618	103412618	A	T	COL11A1	c.3169-106T>A	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103412618A>T	(Likely) benign	1 lab	c330f31f00
2:44559788 PREPL G>A	2	44559788	44559788	G	A	PREPL	c.1163C>T	NM_006036.4	NP_006027.2:p.(Pro388Leu)	NC_000002.11:g.44559788G>A	(Likely) benign	1 lab	c331d73968
7:5211427 MISSING Ref too long to show for this DEL>G	7	5211427	5253895	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.5211429_5253895del	VUS	1 lab	c3387c2f59
6:56346985 DST T>TCACACACACACACACACACACACA	6	56346985	56347001	T	TCACACACACACACACACACACACA	DST	c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTGTG	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56347000_56347001insACACACACACACACACACACACAC	(Likely) benign	1 lab	c3390c97c4
18:47101900 LIPG G>C	18	47101900	47101900	G	C	LIPG	c.733G>C	NM_006033.4	NP_006024.1:p.(Gly245Arg)	NC_000018.9:g.47101900G>C	VUS	1 lab	c33a49206a
2:71778755 DYSF C>T	2	71778755	71778755	C	T	DYSF	c.1657C>T	NM_003494.4	NP_003485.1:p.(Arg553Cys)	NC_000002.11:g.71778755C>T	VUS	1 lab	c33c1c4f4b
18:34232601 FHOD3 C>T	18	34232601	34232601	C	T	FHOD3	c.1197-5437C>T	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34232601C>T	(Likely) benign	1 lab	c345e5f006
8:144295137 GPIHBP1 G>C	8	144295137	144295137	G	C	GPIHBP1	c.-6G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295137G>C	VUS	1 lab	c346294d00
7:82784373 PCLO T>C	7	82784373	82784373	T	C	PCLO	c.1584A>G	NM_033026.6	NP_149015.2:p.(Lys528=)	NC_000007.13:g.82784373T>C	(Likely) benign	1 lab	c346eb96b4
9:107598884 ABCA1 T>G	9	107598884	107598884	T	G	ABCA1	c.1311+377A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107598884T>G	(Likely) benign	1 lab	c3470aec4c
2:220497040 SLC4A3 G>A	2	220497040	220497040	G	A	SLC4A3	c.1098G>A	NM_001326559.2	NP_001313488.2:p.(Arg366=)	NC_000002.11:g.220497040G>A	(Likely) benign	1 lab	c34765f844
3:38596979 SCN5A A>G	3	38596979	38596979	A	G	SCN5A	c.4542+168T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38596979A>G	(Likely) benign	1 lab	c349f77c60
6:32009879 TNXB C>T	6	32009879	32009879	C	T	TNXB	c.12373G>A	NM_019105.8	NP_061978.6:p.(Glu4125Lys)	NC_000006.11:g.32009879C>T	(Likely) benign	1 lab	c34a975b9e
12:32797905 FGD4 A>G	12	32797905	32797905	A	G	FGD4	c.*4438A>G	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32797905A>G	(Likely) benign	1 lab	c34ad78196
3:50378153 RASSF1 A>T	3	50378153	50378153	A	T	RASSF1	c.84T>A	NM_007182.5	NP_009113.3:p.(Arg28=)	NC_000003.11:g.50378153A>T	(Likely) benign	1 lab	c34cf12fc7
6:116938330 RSPH4A C>T	6	116938330	116938330	C	T	RSPH4A	c.544C>T	NM_001010892.3	NP_001010892.1:p.(Gln182Ter)	NC_000006.11:g.116938330C>T	(Likely) pathogenic	1 lab	c34ddf6e0e
4:114238923 ANK2 C>T	4	114238923	114238923	C	T	ANK2	c.2859C>T	NM_001386174.1	NP_001373103.1:p.(Asp953=)	NC_000004.11:g.114238923C>T	(Likely) benign	1 lab	c34de3fcf6
11:47371866 MYBPC3 T>C	11	47371866	47371866	T	C	MYBPC3	c.406+187A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371866T>C	(Likely) benign	1 lab	c34f95a90b
18:25565020 CDH2 G>A	18	25565020	25565020	G	A	CDH2	c.2153C>T	NM_001792.5	NP_001783.2:p.(Ala718Val)	NC_000018.9:g.25565020G>A	VUS	1 lab	c3520b2361
6:118024871 NUS1 A>G	6	118024871	118024871	A	G	NUS1	c.791+4A>G	NM_138459.5	NP_612468.1:p.?	NC_000006.11:g.118024871A>G	(Likely) pathogenic	1 lab	c3531f74c0
6:35207655 SCUBE3 A>G	6	35207655	35207655	A	G	SCUBE3	c.949+4A>G	NM_001303136.2	NP_001290065.1:p.?	NC_000006.11:g.35207655A>G	VUS	1 lab	c354769ebb
1:103364483 COL11A1 TA>T	1	103364483	103364484	TA	T	COL11A1	c.4176+13del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103364484del	(Likely) benign	1 lab	c3558e0679
17:8192158 SLC25A35 C>T	17	8192158	8192158	C	T	SLC25A35	c.*776G>A	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192158C>T	(Likely) benign	1 lab	c355acfd47
12:49437753 KMT2D G>A	12	49437753	49437753	G	A	KMT2D	c.5217C>T	NM_003482.4	NP_003473.3:p.(Gly1739=)	NC_000012.11:g.49437753G>A	(Likely) benign	1 lab	c356239a96
1:50884781 DMRTA2 G>A	1	50884781	50884781	G	A	DMRTA2	c.1185C>T	NM_032110.3	NP_115486.1:p.(Ala395=)	NC_000001.10:g.50884781G>A	(Likely) benign	1 lab	c3568d4499
12:50502943 GPD1 T>G	12	50502943	50502943	T	G	GPD1	c.954-263T>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502943T>G	(Likely) benign	1 lab	c356a70df2
4:73957691 ANKRD17 T>C	4	73957691	73957691	T	C	ANKRD17	c.5315A>G	NM_001286771.3	NP_001273700.1:p.(Tyr1772Cys)	NC_000004.11:g.73957691T>C	VUS	1 lab	c35725c1c6
17:75488720 SEPTIN9 G>A	17	75488720	75488720	G	A	SEPTIN9	c.1344G>A	NM_006640.5	NP_006631.2:p.(Leu448=)	NC_000017.10:g.75488720G>A	(Likely) benign	1 lab	c3585e6906
16:4304264 MISSING A>Alt too long to show for this DUP	16	4304264	4463373	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.4304265_4463373dup	VUS	1 lab	c359e2fe62
21:27056250 JAM2 A>G	21	27056250	27056250	A	G	JAM2	c.123A>G	NM_021219.4	NP_067042.1:p.(Val41=)	NC_000021.8:g.27056250A>G	(Likely) benign	1 lab	c35b25e2c8
10:27035251 PDSS1 G>GTATC	10	27035251	27035256	G	GTATC	PDSS1	c.1108-9_1108-6dup	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27035253_27035256dup	(Likely) benign	1 lab	c35b8cd32d
10:28229506 ODAD2 C>A	10	28229506	28229506	C	A	ODAD2	c.1972G>T	NM_001290020.2	NP_001276949.1:p.(Glu658Ter)	NC_000010.10:g.28229506C>A	(Likely) pathogenic	1 lab	c35df9bd58
19:11230785 LDLR A>C	19	11230785	11230785	A	C	LDLR	c.1863A>C	NM_000527.5	NP_000518.1:p.(Thr621=)	NC_000019.9:g.11230785A>C	(Likely) benign	1 lab	c362a3eb2a
19:11230650 LDLR GAAAC>G	19	11230650	11230675	GAAAC	G	LDLR	c.1846-96_1846-93del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230672_11230675del	(Likely) benign	1 lab	c3634e5f30
6:112460354 LAMA4 C>T	6	112460354	112460354	C	T	LAMA4	c.3250G>A	NM_001105206.3	NP_001098676.2:p.(Asp1084Asn)	NC_000006.11:g.112460354C>T	VUS	1 lab	c364166e9c
7:72643543 MISSING Ref too long to show for this DEL>C	7	72643543	74141512	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72643545_74141512del	(Likely) pathogenic	1 lab	c367cfaa42
19:40909637 PRX C>T	19	40909637	40909637	C	T	PRX	c.160G>A	NM_020956.2	NP_066007.1:p.(Ala54Thr)	NC_000019.9:g.40909637C>T	VUS	1 lab	c36c7b0761
6:56418399 DST T>C	6	56418399	56418399	T	C	DST	c.15191A>G	NM_001374736.1	NP_001361665.1:p.(Gln5064Arg)	NC_000006.11:g.56418399T>C	(Likely) benign	1 lab	c36e71b1a4
19:11216020 LDLR C>A	19	11216020	11216020	C	A	LDLR	c.438C>A	NM_000527.5	NP_000518.1:p.(Leu146=)	NC_000019.9:g.11216020C>A	(Likely) benign	1 lab	c37100b2c5
11:47361201 MYBPC3 C>A	11	47361201	47361201	C	A	MYBPC3	c.2067+1G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361201C>A	(Likely) pathogenic	1 lab	c372aca915
12:50498489 GPD1 T>C	12	50498489	50498489	T	C	GPD1	c.174T>C	NM_005276.4	NP_005267.2:p.(His58=)	NC_000012.11:g.50498489T>C	(Likely) benign	1 lab	c37311a570
1:161648346 MISSING A>Alt too long to show for this DUP	1	161648346	161681552	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.161648347_161681552dup	VUS	1 lab	c374465089
8:19811883 LPL C>A	8	19811883	19811883	C	A	LPL	c.775+19C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811883C>A	(Likely) benign	1 lab	c378f3a11d
3:129156534 MBD4 G>A	3	129156534	129156534	G	A	MBD4	c.335+29C>T	NM_003925.3	NP_003916.1:p.?	NC_000003.11:g.129156534G>A	(Likely) benign	1 lab	c37a48b761
14:76173952 TTLL5 C>CT	14	76173952	76173963	C	CT	TTLL5	c.656-3dup	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76173963dup	(Likely) benign	1 lab	c3801f91d0
16:57007319 CETP G>A	16	57007319	57007319	G	A	CETP	c.827G>A	NM_000078.3	NP_000069.2:p.(Arg276His)	NC_000016.9:g.57007319G>A	VUS	1 lab	c387794974
18:45375075 SMAD2 T>TA	18	45375075	45375082	T	TA	SMAD2	c.785-18dup	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375082dup	(Likely) benign	1 lab	c38829a9e8
2:15467822 NBAS Ref too long to show for this DEL>A	2	15467822	15543354	Ref too long to show for this DEL	A	NBAS	c.2938-929_4582+51del	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15467823_15543354del	VUS	1 lab	c389f2fcb3
14:23876416 MYH6 A>T	14	23876416	23876416	A	T	MYH6	c.17T>A	NM_002471.4	NP_002462.2:p.(Met6Lys)	NC_000014.8:g.23876416A>T	VUS	1 lab	c38b08dab7
X:73960969 NEXMIF G>C	X	73960969	73960969	G	C	NEXMIF	c.3423C>G	NM_001008537.3	NP_001008537.1:p.(Phe1141Leu)	NC_000023.10:g.73960969G>C	(Likely) benign	1 lab	c38f90175b
1:236912218 ACTN2 T>A	1	236912218	236912218	T	A	ACTN2	c.1516-206T>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912218T>A	(Likely) benign	1 lab	c390650cde
13:52548915 ATP7B G>A	13	52548915	52548915	G	A	ATP7B	c.441C>T	NM_000053.4	NP_000044.2:p.(Leu147=)	NC_000013.10:g.52548915G>A	(Likely) benign	1 lab	c39204ed02
10:88671735 MISSING Ref too long to show for this DEL>T	10	88671735	90254417	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.88671736_90254417del	(Likely) pathogenic	1 lab	c3925fbdb3
17:41256268 BRCA1 G>T	17	41256268	41256268	G	T	BRCA1	c.312C>A	NM_007294.4	NP_009225.1:p.(Ser104Arg)	NC_000017.10:g.41256268G>T	(Likely) benign	1 lab	c394a8652a
10:285389 ZMYND11 AG>A	10	285389	285392	AG	A	ZMYND11	c.624del	NM_006624.7	NP_006615.2:p.(Lys209AsnfsTer20)	NC_000010.10:g.285392del	(Likely) pathogenic	1 lab	c39cdc410e
7:30662046 GARS1 T>A	7	30662046	30662046	T	A	GARS1	c.1581T>A	NM_002047.4	NP_002038.2:p.(Ile527=)	NC_000007.13:g.30662046T>A	(Likely) benign	1 lab	c39eaaf455
6:111493887 SLC16A10 T>C	6	111493887	111493887	T	C	SLC16A10	c.344-11T>C	NM_018593.5	NP_061063.2:p.?	NC_000006.11:g.111493887T>C	(Likely) benign	1 lab	c3a253762f
6:7555954 DSP AACCG>A	6	7555954	7555958	AACCG	A	DSP	c.175_178del	NM_004415.4	NP_004406.2:p.(Thr59AlafsTer23)	NC_000006.11:g.7555955_7555958del	(Likely) benign	1 lab	c3a2fd6181
8:19811614 LPL C>T	8	19811614	19811614	C	T	LPL	c.542-17C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811614C>T	(Likely) benign	1 lab	c3a6824969
14:36028856 MISSING Ref too long to show for this DEL>C	14	36028856	39723119	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.36028858_39723119del	(Likely) pathogenic	1 lab	c3a8623c2f
18:25565184 CDH2 C>T	18	25565184	25565184	C	T	CDH2	c.1989G>A	NM_001792.5	NP_001783.2:p.(Gln663=)	NC_000018.9:g.25565184C>T	(Likely) benign	1 lab	c3a8ade89b
2:179482566 TTN G>A	2	179482566	179482566	G	A	TTN	c.47512C>T	NM_001267550.2	NP_001254479.2:p.(Arg15838Ter)	NC_000002.11:g.179482566G>A	(Likely) pathogenic	1 lab	c3a9e13239
22:50905850 SBF1 G>A	22	50905850	50905850	G	A	SBF1	c.466C>T	NM_002972.4	NP_002963.2:p.(His156Tyr)	NC_000022.10:g.50905850G>A	(Likely) benign	1 lab	c3ab077157
19:8174511 FBN3 T>C	19	8174511	8174511	T	C	FBN3	c.4456+4A>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8174511T>C	(Likely) benign	1 lab	c3abdfd446
16:72137880 DHX38 A>G	16	72137880	72137880	A	G	DHX38	c.1860A>G	NM_014003.4	NP_054722.2:p.(Ser620=)	NC_000016.9:g.72137880A>G	(Likely) benign	1 lab	c3acbd0d05
6:56438599 DST T>G	6	56438599	56438599	T	G	DST	c.6757A>C	NM_001144769.5	NP_001138241.1:p.(Ser2253Arg)	NC_000006.11:g.56438599T>G	VUS	1 lab	c3b03e6c61
2:219679429 CYP27A1 C>T	2	219679429	219679429	C	T	CYP27A1	c.1425C>T	NM_000784.4	NP_000775.1:p.(Ala475=)	NC_000002.11:g.219679429C>T	(Likely) benign	1 lab	c3b2e83937
16:57009082 CETP T>C	16	57009082	57009082	T	C	CETP	c.981+19T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57009082T>C	(Likely) benign	1 lab	c3b8e9f3b1
16:67974058 LCAT T>C	16	67974058	67974058	T	C	LCAT	c.1072A>G	NM_000229.2	NP_000220.1:p.(Thr358Ala)	NC_000016.9:g.67974058T>C	VUS	1 lab	c3bb81af30
2:21238034 APOB T>C	2	21238034	21238034	T	C	APOB	c.3607A>G	NM_000384.3	NP_000375.3:p.(Ser1203Gly)	NC_000002.11:g.21238034T>C	(Likely) benign	1 lab	c3bc292f53
X:70443670 GJB1 T>C	X	70443670	70443670	T	C	GJB1	c.113T>C	NM_000166.6	NP_000157.1:p.(Val38Ala)	NC_000023.10:g.70443670T>C	(Likely) pathogenic	1 lab	c3be3295a3
16:84070500 SLC38A8 C>T	16	84070500	84070500	C	T	SLC38A8	c.195G>A	NM_001080442.3	NP_001073911.1:p.(Ser65=)	NC_000016.9:g.84070500C>T	(Likely) benign	1 lab	c3bf32827e
1:1878430 CFAP74 TC>T	1	1878430	1878435	TC	T	CFAP74	c.2239del	NM_001304360.2	NP_001291289.1:p.(Glu747ArgfsTer2)	NC_000001.10:g.1878435del	(Likely) pathogenic	1 lab	c3bf6f786d
9:101909724 TGFBR1 G>A	9	101909724	101909724	G	A	TGFBR1	c.1256-212G>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101909724G>A	(Likely) benign	1 lab	c3bfe4793a
X:47879110 MISSING C>Alt too long to show for this DUP	X	47879110	48057676	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47879111_48057676dup	(Likely) benign	1 lab	c3c05ac286
9:129458301 LMX1B A>C	9	129458301	129458301	A	C	LMX1B	c.1063+40A>C	NM_001174146.2	NP_001167617.1:p.?	NC_000009.11:g.129458301A>C	(Likely) benign	1 lab	c3c13c0c6a
2:179464517 TTN A>G	2	179464517	179464517	A	G	TTN	c.56111T>C	NM_001267550.2	NP_001254479.2:p.(Ile18704Thr)	NC_000002.11:g.179464517A>G	VUS	1 lab	c3c7a0ad91
15:90630460 MISSING Ref too long to show for this DEL>C	15	90630460	90769282	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.90630461_90769282del	(Likely) pathogenic	1 lab	c3c8fbeb2d
18:34232866 FHOD3 G>A	18	34232866	34232866	G	A	FHOD3	c.1620G>A	NM_001281740.3	NP_001268669.1:p.(Lys540=)	NC_000018.9:g.34232866G>A	(Likely) benign	1 lab	c3cc77e1e3
16:1005533 LMF1 G>A	16	1005533	1005533	G	A	LMF1	c.194-867C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1005533G>A	(Likely) benign	1 lab	c3cf6a231f
8:55542239 RP1 C>T	8	55542239	55542239	C	T	RP1	c.5797C>T	NM_006269.2	NP_006260.1:p.(Arg1933Ter)	NC_000008.10:g.55542239C>T	(Likely) pathogenic	1 lab	c3d14bf39a
9:21333926 KLHL9 C>G	9	21333926	21333926	C	G	KLHL9	c.933G>C	NM_018847.4	NP_061335.1:p.(Leu311=)	NC_000009.11:g.21333926C>G	(Likely) benign	1 lab	c3d2207ac9
12:2706391 CACNA1C T>C	12	2706391	2706391	T	C	CACNA1C	c.2794-5T>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2706391T>C	(Likely) benign	1 lab	c3d3b73b38
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+23_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948345_133948371dup	(Likely) benign	1 lab	c3d4892c22
15:85383202 ALPK3 A>C	15	85383202	85383202	A	C	ALPK3	c.692A>C	NM_020778.5	NP_065829.4:p.(Gln231Pro)	NC_000015.9:g.85383202A>C	VUS	1 lab	c3d941fba6
6:39883806 MOCS1 G>A	6	39883806	39883806	G	A	MOCS1	c.583+6C>T	NM_005943.6	NP_005934.2:p.?	NC_000006.11:g.39883806G>A	(Likely) benign	1 lab	c3dc572d32
16:1570618 IFT140 G>A	16	1570618	1570618	G	A	IFT140	c.3645C>T	NM_014714.4	NP_055529.2:p.(Ala1215=)	NC_000016.9:g.1570618G>A	(Likely) benign	1 lab	c3dc65bdaa
15:85410457 ALPK3 T>TGG	15	85410457	85410458	T	TGG	ALPK3	c.4724-91_4724-90insGG	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410457_85410458insGG	(Likely) benign	1 lab	c3dda68c07
2:179466832 TTN A>T	2	179466832	179466832	A	T	TTN	c.55166T>A	NM_001267550.2	NP_001254479.2:p.(Val18389Asp)	NC_000002.11:g.179466832A>T	VUS	1 lab	c3e046cca2
9:132218602 MISSING T>Alt too long to show for this DUP	9	132218602	132369429	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.132218604_132369429dup	VUS	1 lab	c3e1aa6214
1:63070410 ANGPTL3 G>T	1	63070410	63070410	G	T	ANGPTL3	c.1305G>T	NM_014495.4	NP_055310.1:p.(Lys435Asn)	NC_000001.10:g.63070410G>T	VUS	1 lab	c3e1eba2f5
12:15834239 EPS8 G>GTAATAA	12	15834239	15834271	G	GTAATAA	EPS8	c.60-9_60-4dup	NM_004447.6	NP_004438.3:p.?	NC_000012.11:g.15834266_15834271dup	(Likely) benign	1 lab	c3e3516b57
2:21228393 APOB G>C	2	21228393	21228393	G	C	APOB	c.11347C>G	NM_000384.3	NP_000375.3:p.(Leu3783Val)	NC_000002.11:g.21228393G>C	VUS	1 lab	c3e57401cb
2:21233988 APOB C>T	2	21233988	21233988	C	T	APOB	c.5752G>A	NM_000384.3	NP_000375.3:p.(Ala1918Thr)	NC_000002.11:g.21233988C>T	(Likely) benign	1 lab	c3ec888c18
2:179417670 TTN T>C	2	179417670	179417670	T	C	TTN	c.89957A>G	NM_001267550.2	NP_001254479.2:p.(Lys29986Arg)	NC_000002.11:g.179417670T>C	VUS	1 lab	c3eefe45fb
9:137711082 COL5A1 C>A	9	137711082	137711082	C	A	COL5A1	c.4446+183C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137711082C>A	(Likely) benign	1 lab	c3f28874ee
15:48779485 FBN1 T>C	15	48779485	48779485	T	C	FBN1	c.3463+24A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48779485T>C	(Likely) benign	1 lab	c3f3aae330
7:92147580 PEX1 C>G	7	92147580	92147580	C	G	PEX1	c.-267-11G>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92147580C>G	(Likely) benign	1 lab	c3fa0e4cde
7:151292547 PRKAG2 GAAAA>G	7	151292547	151292554	GAAAA	G	PRKAG2	c.755-11_755-8del	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151292551_151292554del	(Likely) benign	1 lab	c3faa65b06
2:220285372 DES G>A	2	220285372	220285372	G	A	DES	c.891G>A	NM_001927.4	NP_001918.3:p.(Lys297=)	NC_000002.11:g.220285372G>A	(Likely) benign	1 lab	c3fb35f053
16:3930655 CREBBP G>C	16	3930655	3930655	G	C	CREBBP	c.-738C>G	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3930655G>C	(Likely) pathogenic	1 lab	c3fc0191fe
1:21889564 ALPL A>G	1	21889564	21889564	A	G	ALPL	c.298-39A>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21889564A>G	(Likely) benign	1 lab	c3ff03a13e
18:42281350 SETBP1 AG>A	18	42281350	42281355	AG	A	SETBP1	c.44del	NM_015559.3	NP_056374.2:p.(Gly15AlafsTer49)	NC_000018.9:g.42281355del	(Likely) pathogenic	1 lab	c3ff60b3fc
10:66509333 MISSING Ref too long to show for this DEL>G	10	66509333	68972663	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.66509334_68972663del	VUS	1 lab	c402e7b4d7
3:148901405 CP AAC>A	3	148901405	148901408	AAC	A	CP	c.2286-15_2286-14del	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901407_148901408del	(Likely) benign	1 lab	c40315bb7a
3:38650021 SCN5A A>C	3	38650021	38650021	A	C	SCN5A	c.935-316T>G	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38650021A>C	(Likely) benign	1 lab	c409946cfa
1:879381 SAMD11 C>T	1	879381	879381	C	T	SAMD11	c.2386C>T	NM_001385640.1	NP_001372569.1:p.(Leu796Phe)	NC_000001.10:g.879381C>T	(Likely) benign	1 lab	c409b831fc
9:107568669 ABCA1 G>A	9	107568669	107568669	G	A	ABCA1	c.4317C>T	NM_005502.4	NP_005493.2:p.(Ala1439=)	NC_000009.11:g.107568669G>A	(Likely) benign	1 lab	c40b9ee35f
9:107564335 ABCA1 C>G	9	107564335	107564335	C	G	ABCA1	c.4698G>C	NM_005502.4	NP_005493.2:p.(Lys1566Asn)	NC_000009.11:g.107564335C>G	VUS	1 lab	c40dfed92d
12:189576 MISSING Ref too long to show for this DEL>C	12	189576	4294308	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.189579_4294308del	(Likely) pathogenic	1 lab	c40e111e71
15:48736738 FBN1 C>A	15	48736738	48736738	C	A	FBN1	c.6037G>T	NM_000138.5	NP_000129.3:p.(Asp2013Tyr)	NC_000015.9:g.48736738C>A	(Likely) pathogenic	1 lab	c40e4dc5aa
4:9250640 USP17L18 G>A	4	9250640	9250640	G	A	USP17L18	c.285G>A	NM_001256859.1	NP_001243788.1:p.(Leu95=)	NC_000004.11:g.9250640G>A	(Likely) benign	1 lab	c4116d0dbf
15:48757832 FBN1 G>C	15	48757832	48757832	G	C	FBN1	c.4875C>G	NM_000138.5	NP_000129.3:p.(Thr1625=)	NC_000015.9:g.48757832G>C	(Likely) benign	1 lab	c4134fbaa3
1:156848984 NTRK1 C>T	1	156848984	156848984	C	T	NTRK1	c.1876C>T	NM_002529.4	NP_002520.2:p.(Gln626Ter)	NC_000001.10:g.156848984C>T	(Likely) pathogenic	1 lab	c4135ab233
6:3850057 FAM50B C>G	6	3850057	3850057	C	G	FAM50B	c.12C>G	NM_012135.3	NP_036267.1:p.(Tyr4Ter)	NC_000006.11:g.3850057C>G	VUS	1 lab	c4195cff3b
X:64170838 MISSING Ref too long to show for this DEL>C	X	64170838	64414573	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.64170839_64414573del	(Likely) pathogenic	1 lab	c419e1bf45
13:52539150 ATP7B G>A	13	52539150	52539150	G	A	ATP7B	c.1727C>T	NM_000053.4	NP_000044.2:p.(Ala576Val)	NC_000013.10:g.52539150G>A	VUS	1 lab	c41c5958e5
2:189864976 COL3A1 C>A	2	189864976	189864976	C	A	COL3A1	c.2283+355C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864976C>A	(Likely) benign	1 lab	c41d4a8aee
5:38482054 LIFR C>T	5	38482054	38482054	C	T	LIFR	c.2937G>A	NM_001127671.2	NP_001121143.1:p.(Ser979=)	NC_000005.9:g.38482054C>T	(Likely) benign	1 lab	c41e81dc65
X:153608289 EMD C>T	X	153608289	153608289	C	T	EMD	c.188-13C>T	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608289C>T	(Likely) benign	1 lab	c41ed86cdb
9:140730505 MISSING A>Alt too long to show for this DUP	9	140730505	140755187	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140730506_140755187dup	VUS	1 lab	c420471b53
7:21641030 DNAH11 G>T	7	21641030	21641030	G	T	DNAH11	c.3442G>T	NM_001277115.2	NP_001264044.1:p.(Glu1148Ter)	NC_000007.13:g.21641030G>T	(Likely) pathogenic	1 lab	c420b5e92d
14:88459456 GALC G>A	14	88459456	88459456	G	A	GALC	c.53C>T	NM_000153.4	NP_000144.2:p.(Thr18Ile)	NC_000014.8:g.88459456G>A	VUS	1 lab	c42183a615
5:94764425 MISSING T>Alt too long to show for this DUP	5	94764425	94820438	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.94764426_94820438dup	VUS	1 lab	c4221c2793
2:238303389 COL6A3 C>T	2	238303389	238303389	C	T	COL6A3	c.550G>A	NM_004369.4	NP_004360.2:p.(Ala184Thr)	NC_000002.11:g.238303389C>T	VUS	1 lab	c422a7f5cb
19:16606878 CALR3 G>C	19	16606878	16606878	G	C	CALR3	c.63C>G	NM_145046.5	NP_659483.2:p.(Val21=)	NC_000019.9:g.16606878G>C	(Likely) benign	1 lab	c424d598f2
7:91732039 AKAP9 G>C	7	91732039	91732039	G	C	AKAP9	c.11229G>C	NM_005751.5	NP_005742.4:p.(Met3743Ile)	NC_000007.13:g.91732039G>C	VUS	1 lab	c426fb0ead
10:85972919 CDHR1 G>T	10	85972919	85972919	G	T	CDHR1	c.1855G>T	NM_033100.4	NP_149091.1:p.(Val619Leu)	NC_000010.10:g.85972919G>T	VUS	1 lab	c42f278c15
14:23887443 MYH7 C>T	14	23887443	23887443	C	T	MYH7	c.4145G>A	NM_000257.4	NP_000248.2:p.(Arg1382Gln)	NC_000014.8:g.23887443C>T	VUS	1 lab	c42f57e163
4:647792 PDE6B C>T	4	647792	647792	C	T	PDE6B	c.852+11C>T	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.647792C>T	(Likely) benign	1 lab	c433916e93
10:123241179 FGFR2 Ref too long to show for this DEL>T	10	123241179	123245814	Ref too long to show for this DEL	T	FGFR2	c.2058-767_2302-1645del	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123241181_123245814del	VUS	1 lab	c43790ab7d
1:6529182 PLEKHG5 TTCCTCC>T	1	6529182	6529208	TTCCTCC	T	PLEKHG5	c.2163_2168del	NM_198681.4	NP_941374.3:p.(Glu722_Glu723del)	NC_000001.10:g.6529203_6529208del	(Likely) benign	1 lab	c43945adeb
1:240371328 FMN2 G>A	1	240371328	240371328	G	A	FMN2	c.3228G>A	NM_001305424.2	NP_001292353.1:p.(Ala1076=)	NC_000001.10:g.240371328G>A	(Likely) benign	1 lab	c43b522968
2:179530499 TTN T>A	2	179530499	179530499	T	A	TTN	c.35895A>T	NM_001267550.2	NP_001254479.2:p.(Glu11965Asp)	NC_000002.11:g.179530499T>A	VUS	1 lab	c43bb3f5ad
X:106885646 PRPS1 A>G	X	106885646	106885646	A	G	PRPS1	c.456A>G	NM_002764.4	NP_002755.1:p.(Leu152=)	NC_000023.10:g.106885646A>G	(Likely) benign	1 lab	c43c56365c
9:129453322 LMX1B C>A	9	129453322	129453322	C	A	LMX1B	c.534C>A	NM_001174146.2	NP_001167617.1:p.(Ser178=)	NC_000009.11:g.129453322C>A	(Likely) benign	1 lab	c43da2f278
1:236891222 ACTN2 T>G	1	236891222	236891222	T	G	ACTN2	c.615+166T>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236891222T>G	(Likely) benign	1 lab	c43ffb5a35
11:17899795 SERGEF TA>T	11	17899795	17899808	TA	T	SERGEF	c.1012-5del	NM_012139.4	NP_036271.1:p.?	NC_000011.9:g.17899808del	(Likely) benign	1 lab	c443a09e30
12:50500151 GPD1 G>A	12	50500151	50500151	G	A	GPD1	c.441G>A	NM_005276.4	NP_005267.2:p.(Leu147=)	NC_000012.11:g.50500151G>A	(Likely) benign	1 lab	c448e8c6a7
9:140056634 GRIN1 G>A	9	140056634	140056634	G	A	GRIN1	c.1643G>A	NM_007327.4	NP_015566.1:p.(Arg548Gln)	NC_000009.11:g.140056634G>A	(Likely) pathogenic	1 lab	c449e8fa0f
2:21266773 APOB A>C	2	21266773	21266773	A	C	APOB	c.45T>G	NM_000384.3	NP_000375.3:p.(Pro15=)	NC_000002.11:g.21266773A>C	(Likely) benign	1 lab	c44af0b3de
4:151357910 LRBA G>T	4	151357910	151357910	G	T	LRBA	c.6887C>A	NM_001367550.1	NP_001354479.1:p.(Thr2296Asn)	NC_000004.11:g.151357910G>T	VUS	1 lab	c44b8694ff
X:130408137 IGSF1 A>G	X	130408137	130408137	A	G	IGSF1	c.3810T>C	NM_001170961.2	NP_001164432.1:p.(Ser1270=)	NC_000023.10:g.130408137A>G	(Likely) benign	1 lab	c44e051a66
15:67457963 SMAD3 C>T	15	67457963	67457963	C	T	SMAD3	c.532+241C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457963C>T	(Likely) benign	1 lab	c45049cff1
7:91734981 AKAP9 A>T	7	91734981	91734981	A	T	AKAP9	c.11331-11A>T	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91734981A>T	(Likely) benign	1 lab	c450e4dc54
16:88807896 PIEZO1 G>A	16	88807896	88807896	G	A	PIEZO1	c.455C>T	NM_001142864.4	NP_001136336.2:p.(Pro152Leu)	NC_000016.9:g.88807896G>A	(Likely) benign	1 lab	c450ff4888
2:25042846 ADCY3 A>G	2	25042846	25042846	A	G	ADCY3	c.3393T>C	NM_001320613.2	NP_001307542.1:p.(Asn1131=)	NC_000002.11:g.25042846A>G	(Likely) benign	1 lab	c453a9897a
15:58834142 LIPC C>T	15	58834142	58834142	C	T	LIPC	c.432C>T	NM_000236.3	NP_000227.2:p.(Val144=)	NC_000015.9:g.58834142C>T	(Likely) benign	1 lab	c45cc72a8d
18:52942931 TCF4 AG>A	18	52942931	52942933	AG	A	TCF4	c.725del	NM_001243228.2	NP_001230157.1:p.(Pro242LeufsTer28)	NC_000018.9:g.52942933del	(Likely) pathogenic	1 lab	c45ccec231
15:72109919 NR2E3 C>G	15	72109919	72109919	C	G	NR2E3	c.1127C>G	NM_014249.4	NP_055064.1:p.(Pro376Arg)	NC_000015.9:g.72109919C>G	VUS	1 lab	c45dbdc299
10:55780165 PCDH15 G>A	10	55780165	55780165	G	A	PCDH15	c.2538C>T	NM_001354429.2	NP_001341358.1:p.(Val846=)	NC_000010.10:g.55780165G>A	(Likely) benign	1 lab	c45f85e2e2
5:131052268 FNIP1 A>C	5	131052268	131052268	A	C	FNIP1	c.612T>G	NM_133372.3	NP_588613.3:p.(Leu204=)	NC_000005.9:g.131052268A>C	(Likely) benign	1 lab	c45f8f664c
X:85282493 CHM A>G	X	85282493	85282493	A	G	CHM	c.116+2T>C	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85282493A>G	(Likely) pathogenic	1 lab	c45fa26620
8:133900792 TG GAGCCA>G	8	133900792	133900800	GAGCCA	G	TG	c.2744_2748del	NM_003235.5	NP_003226.4:p.(Pro915GlnfsTer10)	NC_000008.10:g.133900796_133900800del	(Likely) pathogenic	1 lab	c45fc3f202
19:49469158 FTL C>T	19	49469158	49469158	C	T	FTL	c.234C>T	NM_000146.4	NP_000137.2:p.(Leu78=)	NC_000019.9:g.49469158C>T	(Likely) benign	1 lab	c4600c0b38
9:133578420 EXOSC2 C>T	9	133578420	133578420	C	T	EXOSC2	c.673-20C>T	NM_014285.7	NP_055100.2:p.?	NC_000009.11:g.133578420C>T	(Likely) benign	1 lab	c462063178
1:145398175 MISSING T>Alt too long to show for this DUP	1	145398175	145764679	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.145398178_145764679dup	VUS	1 lab	c4630a79bf
19:45452118 APOC2 G>C	19	45452118	45452118	G	C	APOC2	c.215+1G>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452118G>C	(Likely) pathogenic	1 lab	c4632a8b2d
15:45427454 DUOX1 G>A	15	45427454	45427454	G	A	DUOX1	c.460G>A	NM_017434.5	NP_059130.2:p.(Glu154Lys)	NC_000015.9:g.45427454G>A	VUS	1 lab	c4633b35e6
2:21266788 APOB C>T	2	21266788	21266788	C	T	APOB	c.30G>A	NM_000384.3	NP_000375.3:p.(Ala10=)	NC_000002.11:g.21266788C>T	(Likely) benign	1 lab	c46739fcf2
5:16475199 RETREG1 C>G	5	16475199	16475199	C	G	RETREG1	c.1145G>C	NM_001034850.3	NP_001030022.1:p.(Ser382Thr)	NC_000005.9:g.16475199C>G	(Likely) benign	1 lab	c46abbd427
1:27875213 AHDC1 C>T	1	27875213	27875213	C	T	AHDC1	c.3414G>A	NM_001029882.3	NP_001025053.1:p.(Glu1138=)	NC_000001.10:g.27875213C>T	(Likely) benign	1 lab	c47103e17a
2:202580527 ALS2 T>C	2	202580527	202580527	T	C	ALS2	c.3872A>G	NM_020919.4	NP_065970.2:p.(Glu1291Gly)	NC_000002.11:g.202580527T>C	(Likely) benign	1 lab	c47233b3c7
1:55525261 PCSK9 G>A	1	55525261	55525261	G	A	PCSK9	c.1606G>A	NM_174936.4	NP_777596.2:p.(Val536Ile)	NC_000001.10:g.55525261G>A	VUS	1 lab	c4734f400e
9:432140 DOCK8 CTT>C	9	432140	432154	CTT	C	DOCK8	c.4627-13_4627-12del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.432153_432154del	(Likely) benign	1 lab	c47425c45b
12:133237753 POLE GAAA>G	12	133237753	133237767	GAAA	G	POLE	c.2865-6_2865-4del	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133237765_133237767del	(Likely) benign	1 lab	c47896dfa6
6:112496667 LAMA4 A>G	6	112496667	112496667	A	G	LAMA4	c.1205T>C	NM_001105206.3	NP_001098676.2:p.(Met402Thr)	NC_000006.11:g.112496667A>G	VUS	1 lab	c47a453f79
22:20781670 SCARF2 T>C	22	20781670	20781670	T	C	SCARF2	c.1708+15A>G	NM_153334.7	NP_699165.3:p.?	NC_000022.10:g.20781670T>C	(Likely) benign	1 lab	c47a9fe976
6:110146588 FIG4 C>T	6	110146588	110146588	C	T	FIG4	c.*120C>T	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110146588C>T	(Likely) benign	1 lab	c47f81c2bb
2:48010496 MSH6 C>T	2	48010496	48010496	C	T	MSH6	c.124C>T	NM_000179.3	NP_000170.1:p.(Pro42Ser)	NC_000002.11:g.48010496C>T	(Likely) benign	1 lab	c48060e55b
16:11647409 LITAF G>A	16	11647409	11647409	G	A	LITAF	c.357C>T	NM_001136473.1	NP_001129945.1:p.(Cys119=)	NC_000016.9:g.11647409G>A	(Likely) benign	1 lab	c480d5c22a
3:49694230 BSN G>A	3	49694230	49694230	G	A	BSN	c.7241G>A	NM_003458.4	NP_003449.2:p.(Arg2414Gln)	NC_000003.11:g.49694230G>A	(Likely) benign	1 lab	c48353de6e
17:75494745 SEPTIN9 C>T	17	75494745	75494745	C	T	SEPTIN9	c.*5C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75494745C>T	(Likely) benign	1 lab	c483c74056
14:67158973 GPHN Ref too long to show for this DEL>T	14	67158973	67229645	Ref too long to show for this DEL	T	GPHN	c.143+11072_144-13537del	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67158975_67229645del	VUS	1 lab	c484b23343
11:14730654 PDE3B Ref too long to show for this DEL>C	11	14730654	14838122	Ref too long to show for this DEL	C	PDE3B	c.979-62826_1523-1607del	NM_000922.4	NP_000913.2:p.?	NC_000011.9:g.14730657_14838122del	VUS	1 lab	c486138e87
15:73615496 HCN4 C>T	15	73615496	73615496	C	T	HCN4	c.2938G>A	NM_005477.3	NP_005468.1:p.(Gly980Arg)	NC_000015.9:g.73615496C>T	VUS	1 lab	c489e8acba
12:50502843 GPD1 G>C	12	50502843	50502843	G	C	GPD1	c.954-363G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502843G>C	(Likely) benign	1 lab	c48a704ef3
14:36768287 MBIP Ref too long to show for this DEL>T	14	36768287	36789795	Ref too long to show for this DEL	T	MBIP	c.-1_*1del	NM_016586.3	NP_057670.2:p.0?	NC_000014.8:g.36768288_36789795del	(Likely) pathogenic	1 lab	c48ddb6603
3:57898184 SLMAP T>C	3	57898184	57898184	T	C	SLMAP	c.1725T>C	NM_001304420.3	NP_001291349.1:p.(Asp575=)	NC_000003.11:g.57898184T>C	(Likely) benign	1 lab	c49710bc78
12:33003909 PKP2 T>C	12	33003909	33003909	T	C	PKP2	c.1171-2A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003909T>C	(Likely) pathogenic	1 lab	c49848abbd
19:49685951 TRPM4 G>C	19	49685951	49685951	G	C	TRPM4	c.1380G>C	NM_017636.4	NP_060106.2:p.(Leu460=)	NC_000019.9:g.49685951G>C	(Likely) benign	1 lab	c49a63e3b9
3:58094241 FLNB C>T	3	58094241	58094241	C	T	FLNB	c.1998C>T	NM_001164317.2	NP_001157789.1:p.(Ala666=)	NC_000003.11:g.58094241C>T	(Likely) benign	1 lab	c49c987dae
11:19209828 CSRP3 T>G	11	19209828	19209828	T	G	CSRP3	c.136A>C	NM_003476.5	NP_003467.1:p.(Ser46Arg)	NC_000011.9:g.19209828T>G	(Likely) pathogenic	1 lab	c4a09ed657
2:179611958 TTN C>A	2	179611958	179611958	C	A	TTN	c.15169G>T	NM_133379.5	NP_596870.2:p.(Glu5057Ter)	NC_000002.11:g.179611958C>A	VUS	1 lab	c4a39a2534
3:98584465 DCBLD2 Ref too long to show for this DEL>G	3	98584465	98618961	Ref too long to show for this DEL	G	DCBLD2	c.205+1006_433+15918del	NM_080927.4	NP_563615.3:p.?	NC_000003.11:g.98584467_98618961del	VUS	1 lab	c4a504170c
9:137693890 COL5A1 G>A	9	137693890	137693890	G	A	COL5A1	c.3006+37G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137693890G>A	(Likely) benign	1 lab	c4aa0bc398
15:45397889 DUOX2 C>T	15	45397889	45397889	C	T	DUOX2	c.2286G>A	NM_014080.5	NP_054799.4:p.(Gln762=)	NC_000015.9:g.45397889C>T	(Likely) benign	1 lab	c4aaac5877
9:137667041 COL5A1 G>A	9	137667041	137667041	G	A	COL5A1	c.2385+283G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137667041G>A	(Likely) benign	1 lab	c4ab16d195
17:59793411 BRIP1 C>T	17	59793411	59793411	C	T	BRIP1	c.2393G>A	NM_032043.3	NP_114432.2:p.(Arg798Gln)	NC_000017.10:g.59793411C>T	VUS	1 lab	c4abc242c8
7:100641059 MUC12 T>C	7	100641059	100641059	T	C	MUC12	c.7215T>C	NM_001164462.1	NP_001157934.1:p.(Ser2405=)	NC_000007.13:g.100641059T>C	(Likely) benign	1 lab	c4ac6677a4
12:125348173 SCARB1 C>T	12	125348173	125348173	C	T	SCARB1	c.94G>A	NM_001367981.1	NP_001354910.1:p.(Val32Met)	NC_000012.11:g.125348173C>T	(Likely) benign	1 lab	c4ae5e2712
2:179498246 TTN A>C	2	179498246	179498246	A	C	TTN	c.42840T>G	NM_001267550.2	NP_001254479.2:p.(Asp14280Glu)	NC_000002.11:g.179498246A>C	VUS	1 lab	c4aea51a30
2:141925703 LRP1B Ref too long to show for this DEL>A	2	141925703	142050874	Ref too long to show for this DEL	A	LRP1B	c.344-38664_1013+20286del	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141925704_142050874del	(Likely) pathogenic	1 lab	c4b136e54e
2:97845607 ANKRD36 G>A	2	97845607	97845607	G	A	ANKRD36	c.1672G>A	NM_001354587.1	NP_001341516.1:p.(Asp558Asn)	NC_000002.11:g.97845607G>A	(Likely) benign	1 lab	c4b3b7a866
18:14455336 MISSING Ref too long to show for this DEL>T	18	14455336	14483923	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.14455338_14483923del	VUS	1 lab	c4b501aa13
19:1440374 RPS15 C>T	19	1440374	1440374	C	T	RPS15	c.372C>T	NM_001308226.2	NP_001295155.1:p.(Gly124=)	NC_000019.9:g.1440374C>T	(Likely) benign	1 lab	c4b774d18f
7:128485260 FLNC G>A	7	128485260	128485260	G	A	FLNC	c.3741G>A	NM_001458.5	NP_001449.3:p.(Ala1247=)	NC_000007.13:g.128485260G>A	(Likely) benign	1 lab	c4b9cb8d75
14:75472661 EIF2B2 C>T	14	75472661	75472661	C	T	EIF2B2	c.690C>T	NM_014239.4	NP_055054.1:p.(Asn230=)	NC_000014.8:g.75472661C>T	(Likely) benign	1 lab	c4b9dd88b6
8:145736958 RECQL4 C>T	8	145736958	145736958	C	T	RECQL4	c.3503-20G>A	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145736958C>T	(Likely) benign	1 lab	c4c3bce597
19:40901933 PRX G>C	19	40901933	40901933	G	C	PRX	c.2326C>G	NM_181882.3	NP_870998.2:p.(Leu776Val)	NC_000019.9:g.40901933G>C	VUS	1 lab	c4c4f147d9
7:114563201 MDFIC G>T	7	114563201	114563201	G	T	MDFIC	c.94+19G>T	NM_001166345.1	NP_001159817.1:p.?	NC_000007.13:g.114563201G>T	(Likely) benign	1 lab	c4ca4a2511
12:2797957 CACNA1C G>A	12	2797957	2797957	G	A	CACNA1C	c.6366+12G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2797957G>A	(Likely) benign	1 lab	c4cb8da39c
22:46931838 CELSR1 G>A	22	46931838	46931838	G	A	CELSR1	c.1230C>T	NM_001378328.1	NP_001365257.1:p.(Ser410=)	NC_000022.10:g.46931838G>A	(Likely) benign	1 lab	c4d3087451
6:100897472 SIM1 A>C	6	100897472	100897472	A	C	SIM1	c.452T>G	NM_005068.3	NP_005059.2:p.(Val151Gly)	NC_000006.11:g.100897472A>C	VUS	1 lab	c4d7ea3084
2:21235828 APOB C>T	2	21235828	21235828	C	T	APOB	c.4216+204G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235828C>T	(Likely) benign	1 lab	c4d8170eb3
12:33031984 PKP2 T>C	12	33031984	33031984	T	C	PKP2	c.224-18A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031984T>C	(Likely) benign	1 lab	c4d97d1cfc
8:55542808 RP1 T>C	8	55542808	55542808	T	C	RP1	c.6366T>C	NM_006269.2	NP_006260.1:p.(Ile2122=)	NC_000008.10:g.55542808T>C	(Likely) benign	1 lab	c4da60867c
1:55522987 PCSK9 C>T	1	55522987	55522987	C	T	PCSK9	c.997-17C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522987C>T	(Likely) benign	1 lab	c4dbae565d
19:11222222 LDLR A>G	19	11222222	11222222	A	G	LDLR	c.1093A>G	NM_000527.5	NP_000518.1:p.(Ser365Gly)	NC_000019.9:g.11222222A>G	VUS	1 lab	c4dde6b8dd
5:86659205 RASA1 G>A	5	86659205	86659205	G	A	RASA1	c.1494G>A	NM_002890.3	NP_002881.1:p.(Glu498=)	NC_000005.9:g.86659205G>A	(Likely) benign	1 lab	c4de1ab932
6:80732138 TTK A>C	6	80732138	80732138	A	C	TTK	c.1206A>C	NM_001166691.2	NP_001160163.1:p.(Ala402=)	NC_000006.11:g.80732138A>C	(Likely) benign	1 lab	c4ded967aa
17:8925810 NTN1 C>T	17	8925810	8925810	C	T	NTN1	c.120C>T	NM_004822.3	NP_004813.2:p.(Pro40=)	NC_000017.10:g.8925810C>T	(Likely) benign	1 lab	c4e0204410
11:68696828 IGHMBP2 A>G	11	68696828	68696828	A	G	IGHMBP2	c.1235+3A>G	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68696828A>G	(Likely) pathogenic	1 lab	c4e51b78a2
15:100692953 ADAMTS17 G>A	15	100692953	100692953	G	A	ADAMTS17	c.1337C>T	NM_139057.4	NP_620688.2:p.(Thr446Ile)	NC_000015.9:g.100692953G>A	(Likely) benign	1 lab	c4e84520d8
11:116661278 APOA5 G>A	11	116661278	116661278	G	A	APOA5	c.667C>T	NM_052968.5	NP_443200.2:p.(Arg223Cys)	NC_000011.9:g.116661278G>A	(Likely) pathogenic	1 lab	c4e97ad212
2:131257426 MISSING Ref too long to show for this DEL>T	2	131257426	131354308	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.131257428_131354308del	VUS	1 lab	c4eb0c4b52
17:48268247 COL1A1 G>A	17	48268247	48268247	G	A	COL1A1	c.2274C>T	NM_000088.4	NP_000079.2:p.(Gly758=)	NC_000017.10:g.48268247G>A	(Likely) benign	1 lab	c4ec71377c
6:56818622 DST G>A	6	56818622	56818622	G	A	DST	c.182-5C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56818622G>A	(Likely) benign	1 lab	c4ed852a6a
12:30810058 IPO8 T>C	12	30810058	30810058	T	C	IPO8	c.1882-374A>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30810058T>C	(Likely) benign	1 lab	c4ef99e797
8:1808162 ARHGEF10 C>T	8	1808162	1808162	C	T	ARHGEF10	c.365C>T	NM_001308153.2	NP_001295082.1:p.(Thr122Met)	NC_000008.10:g.1808162C>T	(Likely) benign	1 lab	c4f1c1d5b8
15:35085501 ACTC1 G>A	15	35085501	35085501	G	A	ACTC1	c.399C>T	NM_005159.5	NP_005150.1:p.(Ala133=)	NC_000015.9:g.35085501G>A	(Likely) benign	1 lab	c4f50e395f
14:76173399 TTLL5 C>A	14	76173399	76173399	C	A	TTLL5	c.624C>A	NM_015072.5	NP_055887.3:p.(Ser208=)	NC_000014.8:g.76173399C>A	(Likely) benign	1 lab	c4f98cc0eb
7:128486445 FLNC G>T	7	128486445	128486445	G	T	FLNC	c.4055G>T	NM_001458.5	NP_001449.3:p.(Arg1352Leu)	NC_000007.13:g.128486445G>T	VUS	1 lab	c4f9de7a7d
14:105169564 INF2 G>A	14	105169564	105169564	G	A	INF2	c.507+7G>A	NM_001031714.4	NP_001026884.3:p.?	NC_000014.8:g.105169564G>A	(Likely) benign	1 lab	c4fa6ed20a
10:81820547 MISSING Ref too long to show for this DEL>A	10	81820547	81844237	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.81820548_81844237del	VUS	1 lab	c4fc57e31d
22:19373135 HIRA AGCT>A	22	19373135	19373152	AGCT	A	HIRA	c.1235_1237del	NM_003325.4	NP_003316.3:p.(Gln412del)	NC_000022.10:g.19373150_19373152del	(Likely) benign	1 lab	c4fd8dbd00
11:47296346 MADD C>T	11	47296346	47296346	C	T	MADD	c.295C>T	NM_001376576.1	NP_001363505.1:p.(Arg99Cys)	NC_000011.9:g.47296346C>T	VUS	1 lab	c4fe7d7af1
6:72596754 RIMS1 C>T	6	72596754	72596754	C	T	RIMS1	c.28C>T	NM_014989.6	NP_055804.2:p.(Pro10Ser)	NC_000006.11:g.72596754C>T	(Likely) benign	1 lab	c500134c98
7:150655595 KCNH2 G>A	7	150655595	150655595	G	A	KCNH2	c.473-5C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150655595G>A	(Likely) benign	1 lab	c502f79935
19:11224089 LDLR T>A	19	11224089	11224089	T	A	LDLR	c.1322T>A	NM_000527.5	NP_000518.1:p.(Ile441Asn)	NC_000019.9:g.11224089T>A	(Likely) pathogenic	1 lab	c5033ca83f
3:192172140 FGF12 Ref too long to show for this DEL>C	3	192172140	192241774	Ref too long to show for this DEL	C	FGF12	c.14-163447_14-93814del	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192172141_192241774del	VUS	1 lab	c503b0872d
6:32013833 TNXB G>C	6	32013833	32013833	G	C	TNXB	c.10600+119C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32013833G>C	(Likely) benign	1 lab	c508631d4b
1:63064436 ANGPTL3 T>C	1	63064436	63064436	T	C	ANGPTL3	c.565T>C	NM_014495.4	NP_055310.1:p.(Leu189=)	NC_000001.10:g.63064436T>C	(Likely) benign	1 lab	c508793158
2:44105000 ABCG8 T>C	2	44105000	44105000	T	C	ABCG8	c.1970T>C	NM_022437.3	NP_071882.1:p.(Leu657Pro)	NC_000002.11:g.44105000T>C	(Likely) pathogenic	1 lab	c508af99b7
2:1459852 TPO G>A	2	1459852	1459852	G	A	TPO	c.617G>A	NM_000547.6	NP_000538.3:p.(Arg206Gln)	NC_000002.11:g.1459852G>A	(Likely) pathogenic	1 lab	c50b5b315c
15:48808801 FBN1 A>G	15	48808801	48808801	A	G	FBN1	c.1148-242T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48808801A>G	(Likely) benign	1 lab	c50ba91c09
3:129155543 MBD4 C>CT	3	129155543	129155546	C	CT	MBD4	c.943dup	NM_003925.3	NP_003916.1:p.(Arg315LysfsTer12)	NC_000003.11:g.129155546dup	(Likely) pathogenic	1 lab	c50bdab84a
5:121413286 LOX G>A	5	121413286	121413286	G	A	LOX	c.395C>T	NM_002317.7	NP_002308.2:p.(Ser132Phe)	NC_000005.9:g.121413286G>A	(Likely) benign	1 lab	c50d0a737d
4:5111233 STK32B Ref too long to show for this DEL>A	4	5111233	5134473	Ref too long to show for this DEL	A	STK32B	c.53-30396_53-7159del	NM_018401.3	NP_060871.1:p.?	NC_000004.11:g.5111236_5134473del	VUS	1 lab	c50f3b6e2d
1:94568673 ABCA4 G>A	1	94568673	94568673	G	A	ABCA4	c.468C>T	NM_000350.3	NP_000341.2:p.(Ile156=)	NC_000001.10:g.94568673G>A	(Likely) benign	1 lab	c512ccb808
1:161276518 MPZ G>A	1	161276518	161276518	G	A	MPZ	c.428C>T	NM_000530.8	NP_000521.2:p.(Thr143Met)	NC_000001.10:g.161276518G>A	(Likely) pathogenic	1 lab	c5134d2492
10:75871844 VCL C>T	10	75871844	75871844	C	T	VCL	c.2923C>T	NM_014000.3	NP_054706.1:p.(Arg975Trp)	NC_000010.10:g.75871844C>T	VUS	1 lab	c5167bf7a0
22:30077551 NF2 C>T	22	30077551	30077551	C	T	NF2	c.1698C>T	NM_000268.4	NP_000259.1:p.(Ser566=)	NC_000022.10:g.30077551C>T	(Likely) benign	1 lab	c518aaa77d
9:87570373 NTRK2 C>T	9	87570373	87570373	C	T	NTRK2	c.2113C>T	NM_006180.6	NP_006171.2:p.(Leu705=)	NC_000009.11:g.87570373C>T	(Likely) benign	1 lab	c51b742e6d
6:16129541 MYLIP G>A	6	16129541	16129541	G	A	MYLIP	c.-13G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129541G>A	(Likely) benign	1 lab	c51f8feeca
16:3778455 CREBBP A>T	16	3778455	3778455	A	T	CREBBP	c.6593T>A	NM_004380.3	NP_004371.2:p.(Leu2198Gln)	NC_000016.9:g.3778455A>T	(Likely) benign	1 lab	c520c80bbe
22:29877038 NEFH C>T	22	29877038	29877038	C	T	NEFH	c.787C>T	NM_021076.4	NP_066554.2:p.(Leu263=)	NC_000022.10:g.29877038C>T	(Likely) benign	1 lab	c5211ea768
7:91632379 AKAP9 G>A	7	91632379	91632379	G	A	AKAP9	c.3148G>A	NM_005751.5	NP_005742.4:p.(Val1050Met)	NC_000007.13:g.91632379G>A	(Likely) benign	1 lab	c523ae8313
2:1481070 TPO C>G	2	1481070	1481070	C	G	TPO	c.1032C>G	NM_000547.6	NP_000538.3:p.(Thr344=)	NC_000002.11:g.1481070C>G	(Likely) benign	1 lab	c525104e46
11:47370075 MYBPC3 C>A	11	47370075	47370075	C	A	MYBPC3	c.672G>T	NM_000256.3	NP_000247.2:p.(Leu224=)	NC_000011.9:g.47370075C>A	(Likely) benign	1 lab	c525516da7
8:101245664 SPAG1 C>T	8	101245664	101245664	C	T	SPAG1	c.2014C>T	NM_172218.3	NP_757367.1:p.(Gln672Ter)	NC_000008.10:g.101245664C>T	(Likely) pathogenic	1 lab	c52731a04c
4:106367610 PPA2 C>T	4	106367610	106367610	C	T	PPA2	c.371G>A	NM_176869.3	NP_789845.1:p.(Gly124Glu)	NC_000004.11:g.106367610C>T	VUS	1 lab	c5293372cc
9:72187136 MISSING T>Alt too long to show for this DUP	9	72187136	72441391	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.72187140_72441391dup	VUS	1 lab	c52bfb4526
19:16590002 CALR3 C>G	19	16590002	16590002	C	G	CALR3	c.1095G>C	NM_145046.5	NP_659483.2:p.(Ser365=)	NC_000019.9:g.16590002C>G	(Likely) benign	1 lab	c52c44083d
9:139395346 NOTCH1 C>G	9	139395346	139395346	C	G	NOTCH1	c.5639-47G>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139395346C>G	(Likely) benign	1 lab	c52fd9fbbd
19:11238768 LDLR G>A	19	11238768	11238768	G	A	LDLR	c.2389+7G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238768G>A	(Likely) benign	1 lab	c53018c8ca
15:85411459 ALPK3 G>A	15	85411459	85411459	G	A	ALPK3	c.4890G>A	NM_020778.5	NP_065829.4:p.(Ala1630=)	NC_000015.9:g.85411459G>A	(Likely) benign	1 lab	c5305cbda2
9:79931175 VPS13A T>C	9	79931175	79931175	T	C	VPS13A	c.4716T>C	NM_033305.3	NP_150648.2:p.(Asn1572=)	NC_000009.11:g.79931175T>C	(Likely) benign	1 lab	c531858177
5:127800415 FBN2 A>G	5	127800415	127800415	A	G	FBN2	c.826+2T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800415A>G	VUS	1 lab	c537c2d198
3:30713717 TGFBR2 C>T	3	30713717	30713717	C	T	TGFBR2	c.1117C>T	NM_001024847.2	NP_001020018.1:p.(Arg373Cys)	NC_000003.11:g.30713717C>T	VUS	1 lab	c538e508ba
2:1643141 PXDN G>A	2	1643141	1643141	G	A	PXDN	c.4006C>T	NM_012293.3	NP_036425.1:p.(Arg1336Trp)	NC_000002.11:g.1643141G>A	VUS	1 lab	c539c2525b
6:70952433 COL9A1 A>G	6	70952433	70952433	A	G	COL9A1	c.1174-15T>C	NM_001377289.1	NP_001364218.1:p.?	NC_000006.11:g.70952433A>G	(Likely) benign	1 lab	c53c290b22
1:3348675 PRDM16 C>T	1	3348675	3348675	C	T	PRDM16	c.3667C>T	NM_022114.4	NP_071397.3:p.(His1223Tyr)	NC_000001.10:g.3348675C>T	VUS	1 lab	c53dc3ca14
12:6011218 MISSING Ref too long to show for this DEL>C	12	6011218	6126936	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.6011220_6126936del	VUS	1 lab	c54129c180
X:53263828 IQSEC2 GC>G	X	53263828	53263834	GC	G	IQSEC2	c.4039del	NM_001111125.3	NP_001104595.1:p.(Ala1347LeufsTer50)	NC_000023.10:g.53263834del	(Likely) pathogenic	1 lab	c542c9e2b6
2:220083087 ABCB6 C>T	2	220083087	220083087	C	T	ABCB6	c.309G>A	NM_005689.4	NP_005680.1:p.(Leu103=)	NC_000002.11:g.220083087C>T	(Likely) benign	1 lab	c544bb4e2b
4:100532416 MTTP G>A	4	100532416	100532416	G	A	MTTP	c.1867+19G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532416G>A	(Likely) benign	1 lab	c5468b8a51
8:133906136 TG G>A	8	133906136	133906136	G	A	TG	c.2963G>A	NM_003235.5	NP_003226.4:p.(Arg988His)	NC_000008.10:g.133906136G>A	(Likely) benign	1 lab	c5484ddb3f
8:120580414 MISSING C>Alt too long to show for this DUP	8	120580414	120924004	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.120580416_120924004dup	VUS	1 lab	c54aaf68a7
12:21375331 SLCO1B1 AATAT>A	12	21375331	21375362	AATAT	A	SLCO1B1	c.1747+61_1747+64del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375359_21375362del	(Likely) benign	1 lab	c54e099a3c
16:68716219 CDH3 G>C	16	68716219	68716219	G	C	CDH3	c.846G>C	NM_001317196.2	NP_001304125.1:p.(Val282=)	NC_000016.9:g.68716219G>C	(Likely) benign	1 lab	c553754ca3
17:61571363 ACE CGCTGGA>C	17	61571363	61571370	CGCTGGA	C	ACE	c.3219_3224del	NM_000789.4	NP_000780.1:p.(Trp1074_Arg1075del)	NC_000017.10:g.61571365_61571370del	(Likely) pathogenic	1 lab	c55569fcd2
X:77267038 ATP7A C>T	X	77267038	77267038	C	T	ATP7A	c.2039C>T	NM_000052.7	NP_000043.4:p.(Thr680Ile)	NC_000023.10:g.77267038C>T	VUS	1 lab	c5569eb00c
1:167087509 MISSING G>Alt too long to show for this DUP	1	167087509	167353099	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.167087512_167353099dup	VUS	1 lab	c55707f27a
17:79514263 FAAP100 G>A	17	79514263	79514263	G	A	FAAP100	c.1845C>T	NM_025161.6	NP_079437.5:p.(Ala615=)	NC_000017.10:g.79514263G>A	(Likely) benign	1 lab	c558b0cead
8:19809377 LPL G>A	8	19809377	19809377	G	A	LPL	c.347G>A	NM_000237.3	NP_000228.1:p.(Arg116Gln)	NC_000008.10:g.19809377G>A	(Likely) pathogenic	1 lab	c559f4eed3
9:139391614 NOTCH1 TG>T	9	139391614	139391615	TG	T	NOTCH1	c.6576del	NM_017617.5	NP_060087.3:p.(Asp2192GlufsTer56)	NC_000009.11:g.139391615del	(Likely) pathogenic	1 lab	c55a750d7a
2:179417888 TTN T>C	2	179417888	179417888	T	C	TTN	c.89739A>G	NM_001267550.2	NP_001254479.2:p.(Thr29913=)	NC_000002.11:g.179417888T>C	(Likely) benign	1 lab	c55acf5b14
8:19822830 LPL G>A	8	19822830	19822830	G	A	LPL	c.*9G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822830G>A	(Likely) benign	1 lab	c55c2e1c0e
19:7625552 PNPLA6 G>A	19	7625552	7625552	G	A	PNPLA6	c.3748G>A	NM_001166111.2	NP_001159583.1:p.(Gly1250Arg)	NC_000019.9:g.7625552G>A	(Likely) pathogenic	1 lab	c55d0ae804
2:58390218 FANCL TA>T	2	58390218	58390230	TA	T	FANCL	c.791-10del	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58390230del	(Likely) benign	1 lab	c55e8e6b89
12:57500533 STAT6 C>T	12	57500533	57500533	C	T	STAT6	c.421G>A	NM_001178078.2	NP_001171549.1:p.(Val141Ile)	NC_000012.11:g.57500533C>T	VUS	1 lab	c5651533cf
9:107584031 ABCA1 C>T	9	107584031	107584031	C	T	ABCA1	c.2829-244G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107584031C>T	(Likely) benign	1 lab	c5657e0fbc
12:38714185 ALG10B G>A	12	38714185	38714185	G	A	ALG10B	c.592G>A	NM_001013620.4	NP_001013642.2:p.(Gly198Arg)	NC_000012.11:g.38714185G>A	(Likely) benign	1 lab	c567391e7a
9:36234105 GNE A>G	9	36234105	36234105	A	G	GNE	c.794T>C	NM_005476.7	NP_005467.1:p.(Met265Thr)	NC_000009.11:g.36234105A>G	VUS	1 lab	c56bc5217c
16:55873973 MISSING Ref too long to show for this DEL>C	16	55873973	55886547	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.55873974_55886547del	VUS	1 lab	c56c14c931
17:1674828 SERPINF1 G>A	17	1674828	1674828	G	A	SERPINF1	c.440-338G>A	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1674828G>A	(Likely) benign	1 lab	c56d5071b3
2:179639033 TTN G>A	2	179639033	179639033	G	A	TTN	c.6958C>T	NM_001267550.2	NP_001254479.2:p.(Arg2320Cys)	NC_000002.11:g.179639033G>A	VUS	1 lab	c56e01e2bd
8:145738593 RECQL4 GT>G	8	145738593	145738594	GT	G	RECQL4	c.2463+7del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738594del	(Likely) benign	1 lab	c56ec3ed8f
20:54824803 MC3R C>T	20	54824803	54824803	C	T	MC3R	c.904C>T	NM_019888.3	NP_063941.3:p.(Arg302Trp)	NC_000020.10:g.54824803C>T	VUS	1 lab	c571bdf380
22:32257390 DEPDC5 C>G	22	32257390	32257390	C	G	DEPDC5	c.3301C>G	NM_001242896.3	NP_001229825.1:p.(Arg1101Gly)	NC_000022.10:g.32257390C>G	VUS	1 lab	c57205b3d5
19:46393971 MYPOP T>G	19	46393971	46393971	T	G	MYPOP	c.1110A>C	NM_001012643.4	NP_001012661.1:p.(Pro370=)	NC_000019.9:g.46393971T>G	(Likely) benign	1 lab	c57539cc30
9:107624242 ABCA1 A>G	9	107624242	107624242	A	G	ABCA1	c.422-161T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624242A>G	(Likely) benign	1 lab	c5790654b3
11:2609981 KCNQ1 G>T	11	2609981	2609981	G	T	KCNQ1	c.1290G>T	NM_000218.3	NP_000209.2:p.(Gly430=)	NC_000011.9:g.2609981G>T	(Likely) benign	1 lab	c581a5f077
2:44053576 ABCG5 C>T	2	44053576	44053576	C	T	ABCG5	c.719G>A	NM_022436.3	NP_071881.1:p.(Arg240His)	NC_000002.11:g.44053576C>T	(Likely) benign	1 lab	c58304854e
2:21234932 APOB T>G	2	21234932	21234932	T	G	APOB	c.4808A>C	NM_000384.3	NP_000375.3:p.(Gln1603Pro)	NC_000002.11:g.21234932T>G	VUS	1 lab	c583a10ced
1:179877011 TOR1AIP1 G>A	1	179877011	179877011	G	A	TOR1AIP1	c.841+12G>A	NM_001267578.2	NP_001254507.1:p.?	NC_000001.10:g.179877011G>A	(Likely) benign	1 lab	c586be1b5c
10:127837312 ADAM12 Ref too long to show for this DEL>C	10	127837312	127904738	Ref too long to show for this DEL	C	ADAM12	c.261-60864_339+6483del	NM_001288973.2	NP_001275902.1:p.?	NC_000010.10:g.127837313_127904738del	VUS	1 lab	c58913048e
19:11216232 LDLR ATGG>A	19	11216232	11216238	ATGG	A	LDLR	c.654_656del	NM_000527.5	NP_000518.1:p.(Gly219del)	NC_000019.9:g.11216236_11216238del	(Likely) pathogenic	1 lab	c5896eedd4
X:70443807 GJB1 G>A	X	70443807	70443807	G	A	GJB1	c.250G>A	NM_000166.6	NP_000157.1:p.(Val84Ile)	NC_000023.10:g.70443807G>A	(Likely) pathogenic	1 lab	c5897db6a7
18:77477838 CTDP1 C>T	18	77477838	77477838	C	T	CTDP1	c.2239C>T	NM_048368.4	NP_430255.2:p.(Arg747Trp)	NC_000018.9:g.77477838C>T	VUS	1 lab	c58b0436fb
14:20019842 POTEM C>T	14	20019842	20019842	C	T	POTEM	c.379G>A	NM_001145442.1	NP_001138914.1:p.(Ala127Thr)	NC_000014.8:g.20019842C>T	(Likely) benign	1 lab	c58f923f3e
12:125299538 SCARB1 A>G	12	125299538	125299538	A	G	SCARB1	c.407T>C	NM_005505.5	NP_005496.4:p.(Met136Thr)	NC_000012.11:g.125299538A>G	VUS	1 lab	c5907ae81e
2:21232498 APOB T>G	2	21232498	21232498	T	G	APOB	c.7242A>C	NM_000384.3	NP_000375.3:p.(Glu2414Asp)	NC_000002.11:g.21232498T>G	(Likely) benign	1 lab	c5914eefbc
6:21595892 SOX4 C>A	6	21595892	21595892	C	A	SOX4	c.1127C>A	NM_003107.3	NP_003098.1:p.(Ser376Ter)	NC_000006.11:g.21595892C>A	VUS	1 lab	c59196b939
7:138603171 KIAA1549 C>T	7	138603171	138603171	C	T	KIAA1549	c.1201G>A	NM_020910.3	NP_065961.2:p.(Gly401Ser)	NC_000007.13:g.138603171C>T	(Likely) benign	1 lab	c592eb150c
7:91731895 AKAP9 T>G	7	91731895	91731895	T	G	AKAP9	c.11098-13T>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91731895T>G	(Likely) benign	1 lab	c682f40e99
8:24812893 NEFL AGCCGCACCACCCCTGGTCTCCACTTTCTGGGCGCACCAACTCCCCCCCTTGCTCGAGTCCCCCGCCCCCCTGTGTTTCTGGCCGT>A	8	24812893	24812986	AGCCGCACCACCCCTGGTCTCCACTTTCTGGGCGCACCAACTCCCCCCCTTGCTCGAGTCCCCCGCCCCCCTGTGTTTCTGGCCGT	A	NEFL	c.1044+8_1044+92del	NM_006158.5	NP_006149.2:p.?	NC_000008.10:g.24812902_24812986del	(Likely) benign	1 lab	c5958f09cf
8:38940142 ADAM9 C>T	8	38940142	38940142	C	T	ADAM9	c.1882-18C>T	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38940142C>T	(Likely) benign	1 lab	c5975bc1ac
2:97527545 SEMA4C G>A	2	97527545	97527545	G	A	SEMA4C	c.1530C>T	NM_017789.5	NP_060259.4:p.(Val510=)	NC_000002.11:g.97527545G>A	(Likely) benign	1 lab	c5989e8c9c
2:179440747 TTN C>T	2	179440747	179440747	C	T	TTN	c.70112G>A	NM_001267550.2	NP_001254479.2:p.(Arg23371His)	NC_000002.11:g.179440747C>T	VUS	1 lab	c59a519d1f
4:100530056 MTTP T>C	4	100530056	100530056	T	C	MTTP	c.1691T>C	NM_000253.4	NP_000244.2:p.(Ile564Thr)	NC_000004.11:g.100530056T>C	VUS	1 lab	c59b22af7b
11:121323056 SORL1 A>T	11	121323056	121323056	A	T	SORL1	c.16A>T	NM_003105.6	NP_003096.2:p.(Ser6Cys)	NC_000011.9:g.121323056A>T	(Likely) benign	1 lab	c5a4ad652d
9:107580842 ABCA1 T>C	9	107580842	107580842	T	C	ABCA1	c.3462+102A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580842T>C	(Likely) benign	1 lab	c5a85751d0
1:237255647 RYR2 G>Alt too long to show for this DUP	1	237255647	237281371	G	Alt too long to show for this DUP	RYR2	c.48+49781_48+75502dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237255650_237281371dup	VUS	1 lab	c5a947160f
7:140487403 BRAF G>A	7	140487403	140487403	G	A	BRAF	c.1141-19C>T	NM_001354609.2	NP_001341538.1:p.?	NC_000007.13:g.140487403G>A	(Likely) benign	1 lab	c5a9dfc82c
15:58838104 LIPC C>T	15	58838104	58838104	C	T	LIPC	c.738C>T	NM_000236.3	NP_000227.2:p.(Asn246=)	NC_000015.9:g.58838104C>T	(Likely) benign	1 lab	c5aa5b1d73
2:44065676 ABCG5 C>T	2	44065676	44065676	C	T	ABCG5	c.143G>A	NM_022436.3	NP_071881.1:p.(Ser48Asn)	NC_000002.11:g.44065676C>T	VUS	1 lab	c5aacf21d5
2:98612015 TMEM131 G>A	2	98612015	98612015	G	A	TMEM131	c.111C>T	NM_015348.2	NP_056163.1:p.(Ser37=)	NC_000002.11:g.98612015G>A	(Likely) benign	1 lab	c5abd82dd2
5:177377535 MISSING Ref too long to show for this DEL>T	5	177377535	180712265	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.177377538_180712265del	(Likely) pathogenic	1 lab	c5adbb60a8
9:140218846 MISSING G>Alt too long to show for this DUP	9	140218846	140994923	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140218848_140994923dup	(Likely) pathogenic	1 lab	c5b24593b2
1:3328576 PRDM16 G>A	1	3328576	3328576	G	A	PRDM16	c.1815G>A	NM_022114.4	NP_071397.3:p.(Glu605=)	NC_000001.10:g.3328576G>A	(Likely) benign	1 lab	c5b315b94f
7:91631608 AKAP9 A>G	7	91631608	91631608	A	G	AKAP9	c.2377A>G	NM_005751.5	NP_005742.4:p.(Ile793Val)	NC_000007.13:g.91631608A>G	(Likely) benign	1 lab	c5b357ca92
8:144296897 GPIHBP1 G>A	8	144296897	144296897	G	A	GPIHBP1	c.191G>A	NM_178172.6	NP_835466.2:p.(Arg64Gln)	NC_000008.10:g.144296897G>A	(Likely) benign	1 lab	c5b5328fa8
19:45452120 APOC2 A>G	19	45452120	45452120	A	G	APOC2	c.215+3A>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452120A>G	(Likely) pathogenic	1 lab	c5b842a117
16:960920 LMF1 G>A	16	960920	960920	G	A	LMF1	c.264+11C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960920G>A	(Likely) benign	1 lab	c5b8f92885
6:32009375 TNXB T>C	6	32009375	32009375	T	C	TNXB	c.12628-148A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009375T>C	(Likely) benign	1 lab	c5b9f33a03
5:90084121 ADGRV1 A>G	5	90084121	90084121	A	G	ADGRV1	c.13887A>G	NM_032119.4	NP_115495.3:p.(Thr4629=)	NC_000005.9:g.90084121A>G	(Likely) benign	1 lab	c5ba0dae5a
2:231905148 MISSING Ref too long to show for this DEL>T	2	231905148	232427985	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.231905149_232427985del	(Likely) pathogenic	1 lab	c5bcf1c318
7:127894804 LEP C>T	7	127894804	127894804	C	T	LEP	c.492C>T	NM_000230.3	NP_000221.1:p.(Ser164=)	NC_000007.13:g.127894804C>T	(Likely) benign	1 lab	c5bfefda67
7:154264006 DPP6 GTATTATCCTTTACTGCCTACAAAATAATTGTTTCTT>G	7	154264006	154264046	GTATTATCCTTTACTGCCTACAAAATAATTGTTTCTT	G	DPP6	c.441+10_441+45del	NM_001936.5	NP_001927.3:p.?	NC_000007.13:g.154264011_154264046del	(Likely) benign	1 lab	c5c2a9857e
16:28884763 SH2B1 T>C	16	28884763	28884763	T	C	SH2B1	c.1998-5T>C	NM_015503.3	NP_056318.2:p.?	NC_000016.9:g.28884763T>C	(Likely) benign	1 lab	c5c4c9fcb4
14:23922044 MISSING Ref too long to show for this DEL>G	14	23922044	23948770	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.23922049_23948770del	VUS	1 lab	c5c5dcd6bd
1:12062128 MFN2 G>A	1	12062128	12062128	G	A	MFN2	c.1128G>A	NM_014874.4	NP_055689.1:p.(Met376Ile)	NC_000001.10:g.12062128G>A	(Likely) pathogenic	1 lab	c5c7cefa8b
2:44040354 ABCG5 T>G	2	44040354	44040354	T	G	ABCG5	c.1857A>C	NM_022436.3	NP_071881.1:p.(Arg619Ser)	NC_000002.11:g.44040354T>G	VUS	1 lab	c5ca201488
3:123376179 MYLK C>T	3	123376179	123376179	C	T	MYLK	c.4082G>A	NM_053025.4	NP_444253.3:p.(Ser1361Asn)	NC_000003.11:g.123376179C>T	VUS	1 lab	c5cfb21985
4:138223770 MISSING C>Alt too long to show for this DUP	4	138223770	139012053	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.138223773_139012053dup	(Likely) pathogenic	1 lab	c5d0c0a140
12:21355436 SLCO1B1 A>G	12	21355436	21355436	A	G	SLCO1B1	c.1147A>G	NM_006446.5	NP_006437.3:p.(Ile383Val)	NC_000012.11:g.21355436A>G	(Likely) benign	1 lab	c5d15b17f0
17:63554018 AXIN2 A>C	17	63554018	63554018	A	C	AXIN2	c.721T>G	NM_004655.4	NP_004646.3:p.(Cys241Gly)	NC_000017.10:g.63554018A>C	(Likely) benign	1 lab	c5d229dc80
19:11215846 LDLR T>C	19	11215846	11215846	T	C	LDLR	c.314-50T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215846T>C	(Likely) benign	1 lab	c5d4d7796d
6:112471700 LAMA4 C>G	6	112471700	112471700	C	G	LAMA4	c.2152+13G>C	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112471700C>G	(Likely) benign	1 lab	c5da8db167
7:150654414 KCNH2 C>A	7	150654414	150654414	C	A	KCNH2	c.1093G>T	NM_000238.4	NP_000229.1:p.(Glu365Ter)	NC_000007.13:g.150654414C>A	(Likely) pathogenic	1 lab	c5dadd014a
17:11872689 DNAH9 C>T	17	11872689	11872689	C	T	DNAH9	c.13306C>T	NM_001372.4	NP_001363.2:p.(Pro4436Ser)	NC_000017.10:g.11872689C>T	VUS	1 lab	c5dae5fa45
7:122227587 CADPS2 Ref too long to show for this DEL>G	7	122227587	122258933	Ref too long to show for this DEL	G	CADPS2	c.1104+2602_1224-6244del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122227588_122258933del	(Likely) pathogenic	1 lab	c5de27d95a
10:67680332 CTNNA3 A>G	10	67680332	67680332	A	G	CTNNA3	c.2444T>C	NM_013266.4	NP_037398.2:p.(Met815Thr)	NC_000010.10:g.67680332A>G	VUS	1 lab	c5df253735
2:73679672 ALMS1 C>T	2	73679672	73679672	C	T	ALMS1	c.6021C>T	NM_015120.4	NP_055935.4:p.(Asp2007=)	NC_000002.11:g.73679672C>T	(Likely) benign	1 lab	c5e2fb6497
9:99834892 MISSING Ref too long to show for this DEL>C	9	99834892	99965955	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.99834893_99965955del	(Likely) pathogenic	1 lab	c5e5276707
2:179438310 TTN C>T	2	179438310	179438310	C	T	TTN	c.72549G>A	NM_001267550.2	NP_001254479.2:p.(Lys24183=)	NC_000002.11:g.179438310C>T	(Likely) benign	1 lab	c5e6e5e7b1
19:55316415 KIR2DL4 T>A	19	55316415	55316415	T	A	KIR2DL4	c.244T>A	NM_001080772.2	NP_001074241.1:p.(Phe82Ile)	NC_000019.9:g.55316415T>A	(Likely) benign	1 lab	c5e91cacc7
1:66038085 LEPR GA>G	1	66038085	66038087	GA	G	LEPR	c.449del	NM_002303.6	NP_002294.2:p.(Asn150IlefsTer20)	NC_000001.10:g.66038087del	(Likely) pathogenic	1 lab	c5e966d726
15:58840696 LIPC T>C	15	58840696	58840696	T	C	LIPC	c.976T>C	NM_000236.3	NP_000227.2:p.(Tyr326His)	NC_000015.9:g.58840696T>C	VUS	1 lab	c5eb3f7393
17:6358883 PITPNM3 G>A	17	6358883	6358883	G	A	PITPNM3	c.2700C>T	NM_031220.4	NP_112497.2:p.(Arg900=)	NC_000017.10:g.6358883G>A	(Likely) benign	1 lab	c5ed9fc7ad
2:21263940 APOB G>A	2	21263940	21263940	G	A	APOB	c.253C>T	NM_000384.3	NP_000375.3:p.(Pro85Ser)	NC_000002.11:g.21263940G>A	(Likely) benign	1 lab	c5ee0d097b
2:179579026 TTN G>C	2	179579026	179579026	G	C	TTN	c.22743C>G	NM_133378.4	NP_596869.4:p.(Ser7581=)	NC_000002.11:g.179579026G>C	(Likely) benign	1 lab	c5ee61364b
22:39627738 PDGFB G>T	22	39627738	39627738	G	T	PDGFB	c.345C>A	NM_002608.4	NP_002599.1:p.(Asn115Lys)	NC_000022.10:g.39627738G>T	VUS	1 lab	c5f0cbe6b5
19:54629893 PRPF31 G>A	19	54629893	54629893	G	A	PRPF31	c.856-10G>A	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54629893G>A	(Likely) benign	1 lab	c5f35411a2
1:983405 AGRN G>A	1	983405	983405	G	A	AGRN	c.3765G>A	NM_001305275.2	NP_001292204.1:p.(Ala1255=)	NC_000001.10:g.983405G>A	(Likely) benign	1 lab	c5f5ec7b2a
2:21260083 APOB C>T	2	21260083	21260083	C	T	APOB	c.582G>A	NM_000384.3	NP_000375.3:p.(Thr194=)	NC_000002.11:g.21260083C>T	(Likely) benign	1 lab	c5f75f9523
9:107599481 ABCA1 T>C	9	107599481	107599481	T	C	ABCA1	c.1195-104A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599481T>C	(Likely) benign	1 lab	c5faa11ea1
5:151043103 SPARC G>C	5	151043103	151043103	G	C	SPARC	c.939C>G	NM_001309444.2	NP_001296373.1:p.(Leu313=)	NC_000005.9:g.151043103G>C	(Likely) benign	1 lab	c5fb3dc5aa
19:38951109 RYR1 C>T	19	38951109	38951109	C	T	RYR1	c.2455C>T	NM_000540.3	NP_000531.2:p.(Arg819Ter)	NC_000019.9:g.38951109C>T	(Likely) pathogenic	1 lab	c5fe7f50b9
12:49420408 KMT2D T>C	12	49420408	49420408	T	C	KMT2D	c.15341A>G	NM_003482.4	NP_003473.3:p.(His5114Arg)	NC_000012.11:g.49420408T>C	(Likely) pathogenic	1 lab	c601a8ec39
9:107594969 ABCA1 C>T	9	107594969	107594969	C	T	ABCA1	c.1395G>A	NM_005502.4	NP_005493.2:p.(Ala465=)	NC_000009.11:g.107594969C>T	(Likely) benign	1 lab	c60424dfdf
15:48762744 FBN1 C>T	15	48762744	48762744	C	T	FBN1	c.4459+87G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48762744C>T	(Likely) benign	1 lab	c6068e65fe
18:58039372 MC4R TG>T	18	58039372	58039374	TG	T	MC4R	c.210del	NM_005912.3	NP_005903.2:p.(Lys71ArgfsTer23)	NC_000018.9:g.58039374del	(Likely) pathogenic	1 lab	c60736eb8a
11:31636012 ELP4 Ref too long to show for this DEL>A	11	31636012	31759361	Ref too long to show for this DEL	A	ELP4	c.653+10561_1144-45580del	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31636015_31759361del	VUS	1 lab	c6073e8732
2:179464055 TTN A>G	2	179464055	179464055	A	G	TTN	c.56465T>C	NM_001267550.2	NP_001254479.2:p.(Ile18822Thr)	NC_000002.11:g.179464055A>G	VUS	1 lab	c607f66a5d
2:219873761 CFAP65 Ref too long to show for this DEL>C	2	219873761	219875725	Ref too long to show for this DEL	C	CFAP65	c.3958-7_4674+7del	NM_194302.4	NP_919278.2:p.?	NC_000002.11:g.219873762_219875725del	(Likely) pathogenic	1 lab	c609e0a70f
3:63898266 ATXN7 G>A	3	63898266	63898266	G	A	ATXN7	c.-9G>A	NM_000333.4	NP_000324.1:p.?	NC_000003.11:g.63898266G>A	(Likely) benign	1 lab	c60a7ad742
4:100542578 MTTP A>G	4	100542578	100542578	A	G	MTTP	c.2513+190A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542578A>G	(Likely) benign	1 lab	c610c55416
12:117914420 KSR2 G>A	12	117914420	117914420	G	A	KSR2	c.2451-20C>T	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117914420G>A	(Likely) benign	1 lab	c61a657ebb
3:5025155 MISSING G>Alt too long to show for this DUP	3	5025155	5317090	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.5025157_5317090dup	VUS	1 lab	c620d21c62
12:103352145 ASCL1 A>G	12	103352145	103352145	A	G	ASCL1	c.123A>G	NM_004316.4	NP_004307.2:p.(Ala41=)	NC_000012.11:g.103352145A>G	(Likely) benign	1 lab	c621193548
10:69881677 MYPN T>C	10	69881677	69881677	T	C	MYPN	c.482T>C	NM_032578.4	NP_115967.2:p.(Leu161Pro)	NC_000010.10:g.69881677T>C	VUS	1 lab	c622db8ef8
10:71129194 HK1 C>T	10	71129194	71129194	C	T	HK1	c.656-3C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71129194C>T	(Likely) benign	1 lab	c623adccde
1:63063460 ANGPTL3 C>T	1	63063460	63063460	C	T	ANGPTL3	c.223C>T	NM_014495.4	NP_055310.1:p.(Leu75Phe)	NC_000001.10:g.63063460C>T	VUS	1 lab	c624952ce3
19:17994846 SLC5A5 G>C	19	17994846	17994846	G	C	SLC5A5	c.1517G>C	NM_000453.3	NP_000444.1:p.(Arg506Thr)	NC_000019.9:g.17994846G>C	(Likely) benign	1 lab	c6271ca14b
16:1812379 MAPK8IP3 C>T	16	1812379	1812379	C	T	MAPK8IP3	c.1567C>T	NM_001318852.2	NP_001305781.1:p.(Arg523Cys)	NC_000016.9:g.1812379C>T	VUS	1 lab	c62892769f
4:126412806 FAT4 T>C	4	126412806	126412806	T	C	FAT4	c.14835T>C	NM_001291303.3	NP_001278232.1:p.(Tyr4945=)	NC_000004.11:g.126412806T>C	(Likely) benign	1 lab	c628a57085
2:44079310 ABCG8 C>A	2	44079310	44079310	C	A	ABCG8	c.562-183C>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079310C>A	(Likely) benign	1 lab	c629267426
6:30698012 MISSING C>Alt too long to show for this DUP	6	30698012	30763676	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.30698014_30763676dup	VUS	1 lab	c62afcba26
X:70443765 GJB1 C>T	X	70443765	70443765	C	T	GJB1	c.208C>T	NM_000166.6	NP_000157.1:p.(Pro70Ser)	NC_000023.10:g.70443765C>T	VUS	1 lab	c62e9e5dac
10:88485940 LDB3 C>T	10	88485940	88485940	C	T	LDB3	c.2040C>T	NM_001171610.2	NP_001165081.1:p.(Pro680=)	NC_000010.10:g.88485940C>T	(Likely) benign	1 lab	c62f575e2c
10:85962864 CDHR1 C>T	10	85962864	85962864	C	T	CDHR1	c.768C>T	NM_033100.4	NP_149091.1:p.(Tyr256=)	NC_000010.10:g.85962864C>T	(Likely) benign	1 lab	c633d03448
12:88523587 CEP290 ACT>A	12	88523587	88523591	ACT	A	CEP290	c.734_735del	NM_025114.4	NP_079390.3:p.(Glu245ValfsTer10)	NC_000012.11:g.88523590_88523591del	(Likely) pathogenic	1 lab	c634ca097d
17:423075 VPS53 C>T	17	423075	423075	C	T	VPS53	c.2319G>A	NM_001128159.3	NP_001121631.1:p.(Leu773=)	NC_000017.10:g.423075C>T	(Likely) benign	1 lab	c635d65051
X:70787601 OGT A>G	X	70787601	70787601	A	G	OGT	c.2841A>G	NM_181672.3	NP_858058.1:p.(Pro947=)	NC_000023.10:g.70787601A>G	(Likely) benign	1 lab	c636241d18
11:1016891 MUC6 G>A	11	1016891	1016891	G	A	MUC6	c.5910C>T	NM_005961.3	NP_005952.2:p.(Ser1970=)	NC_000011.9:g.1016891G>A	(Likely) benign	1 lab	c6367eaf40
4:114257028 ANK2 A>G	4	114257028	114257028	A	G	ANK2	c.3406A>G	NM_001148.6	NP_001139.3:p.(Lys1136Glu)	NC_000004.11:g.114257028A>G	VUS	1 lab	c6384a5b47
9:135224736 SETX G>A	9	135224736	135224736	G	A	SETX	c.80C>T	NM_015046.7	NP_055861.3:p.(Ser27Phe)	NC_000009.11:g.135224736G>A	(Likely) benign	1 lab	c63d23237e
2:44102343 ABCG8 A>T	2	44102343	44102343	A	T	ABCG8	c.1547A>T	NM_022437.3	NP_071882.1:p.(Tyr516Phe)	NC_000002.11:g.44102343A>T	VUS	1 lab	c640b9ab15
21:39795455 ERG TG>T	21	39795455	39795457	TG	T	ERG	c.285del	NM_001243428.1	NP_001230357.1:p.(Gly97AlafsTer13)	NC_000021.8:g.39795457del	VUS	1 lab	c641b9eaff
4:71472235 AMBN G>A	4	71472235	71472235	G	A	AMBN	c.1132G>A	NM_016519.6	NP_057603.1:p.(Val378Ile)	NC_000004.11:g.71472235G>A	(Likely) benign	1 lab	c6447024d4
9:135202228 SETX G>A	9	135202228	135202228	G	A	SETX	c.4757C>T	NM_015046.7	NP_055861.3:p.(Pro1586Leu)	NC_000009.11:g.135202228G>A	(Likely) benign	1 lab	c644746aee
6:152658141 SYNE1 C>A	6	152658141	152658141	C	A	SYNE1	c.12363G>T	NM_182961.4	NP_892006.3:p.(Lys4121Asn)	NC_000006.11:g.152658141C>A	(Likely) benign	1 lab	c6453cd5aa
19:50119106 PRR12 G>A	19	50119106	50119106	G	A	PRR12	c.5127G>A	NM_020719.3	NP_065770.1:p.(Thr1709=)	NC_000019.9:g.50119106G>A	(Likely) benign	1 lab	c646fb7cdc
22:50901745 SBF1 G>A	22	50901745	50901745	G	A	SBF1	c.1866C>T	NM_002972.4	NP_002963.2:p.(Asp622=)	NC_000022.10:g.50901745G>A	(Likely) benign	1 lab	c647c33b47
2:74593164 DCTN1 G>C	2	74593164	74593164	G	C	DCTN1	c.2761-19C>G	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74593164G>C	(Likely) benign	1 lab	c6480bbf41
17:45214669 CDC27 T>G	17	45214669	45214669	T	G	CDC27	c.1780A>C	NM_001114091.4	NP_001107563.1:p.(Lys594Gln)	NC_000017.10:g.45214669T>G	(Likely) benign	1 lab	c648130e79
7:92120645 PEX1 G>A	7	92120645	92120645	G	A	PEX1	c.2755C>T	NM_001282678.2	NP_001269607.1:p.(Arg919Trp)	NC_000007.13:g.92120645G>A	VUS	1 lab	c64e691c67
2:179604673 TTN A>G	2	179604673	179604673	A	G	TTN	c.13287T>C	NM_001267550.2	NP_001254479.2:p.(Ala4429=)	NC_000002.11:g.179604673A>G	(Likely) benign	1 lab	c64fa7d62b
2:73718066 ALMS1 G>A	2	73718066	73718066	G	A	ALMS1	c.8983G>A	NM_015120.4	NP_055935.4:p.(Val2995Ile)	NC_000002.11:g.73718066G>A	(Likely) benign	1 lab	c651799d26
10:94399620 KIF11 C>T	10	94399620	94399620	C	T	KIF11	c.2230C>T	NM_004523.4	NP_004514.2:p.(Gln744Ter)	NC_000010.10:g.94399620C>T	(Likely) pathogenic	1 lab	c65186cabb
16:3633480 SLX4 T>C	16	3633480	3633480	T	C	SLX4	c.4771A>G	NM_032444.4	NP_115820.2:p.(Met1591Val)	NC_000016.9:g.3633480T>C	VUS	1 lab	c652c349a0
12:2714260 CACNA1C A>T	12	2714260	2714260	A	T	CACNA1C	c.3034A>T	NM_199460.4	NP_955630.3:p.(Asn1012Tyr)	NC_000012.11:g.2714260A>T	VUS	1 lab	c6533b16cb
8:133923771 TG TGACATTGGTATGTTTTTCTGTGGTA>T	8	133923771	133923797	TGACATTGGTATGTTTTTCTGTGGTA	T	TG	c.4154_4159+19del	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133923773_133923797del	(Likely) pathogenic	1 lab	c655a3287b
14:89168766 MISSING T>Alt too long to show for this DUP	14	89168766	89343774	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.89168770_89343774dup	VUS	1 lab	c657124a62
6:32725559 HLA-DQB2 C>T	6	32725559	32725559	C	T	HLA-DQB2	c.748G>A	NM_001300790.2	NP_001287719.1:p.(Gly250Ser)	NC_000006.11:g.32725559C>T	(Likely) benign	1 lab	c65cdb393e
2:21226453 APOB A>G	2	21226453	21226453	A	G	APOB	c.12088-247T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226453A>G	(Likely) benign	1 lab	c65e45a9ad
11:30902663 DCDC1 A>Alt too long to show for this DUP	11	30902663	30951661	A	Alt too long to show for this DUP	DCDC1	c.2897+1657_5233+41dup	NM_001387274.1	NP_001374203.1:p.?	NC_000011.9:g.30902664_30951661dup	(Likely) pathogenic	1 lab	c664a17ee7
22:29877013 NEFH G>C	22	29877013	29877013	G	C	NEFH	c.762G>C	NM_021076.4	NP_066554.2:p.(Gln254His)	NC_000022.10:g.29877013G>C	VUS	1 lab	c664eb1a76
11:1017032 MUC6 G>A	11	1017032	1017032	G	A	MUC6	c.5769C>T	NM_005961.3	NP_005952.2:p.(Ser1923=)	NC_000011.9:g.1017032G>A	(Likely) benign	1 lab	c6666e1561
2:179647149 TTN A>G	2	179647149	179647149	A	G	TTN	c.3170T>C	NM_001267550.2	NP_001254479.2:p.(Val1057Ala)	NC_000002.11:g.179647149A>G	VUS	1 lab	c668257ba0
15:22752398 MISSING A>Alt too long to show for this DUP	15	22752398	23078857	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752400_23078857dup	(Likely) pathogenic	1 lab	c6686ce665
8:100844596 VPS13B G>GTTTTTTTTTTTTTTTT	8	100844596	100844598	G	GTTTTTTTTTTTTTTTT	VPS13B	c.9406_9407insTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.(Tyr3136PhefsTer16)	NC_000008.10:g.100844597_100844598insTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	c66ccae1a7
13:100915048 PCCA A>G	13	100915048	100915048	A	G	PCCA	c.782A>G	NM_000282.4	NP_000273.2:p.(Glu261Gly)	NC_000013.10:g.100915048A>G	(Likely) pathogenic	1 lab	c66e0be47e
10:54053391 PRKG1 T>C	10	54053391	54053391	T	C	PRKG1	c.1918-171T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54053391T>C	(Likely) benign	1 lab	c66e2485a9
7:150671986 KCNH2 G>A	7	150671986	150671986	G	A	KCNH2	c.120C>T	NM_000238.4	NP_000229.1:p.(Ala40=)	NC_000007.13:g.150671986G>A	(Likely) benign	1 lab	c66e57fba0
17:41063338 G6PC1 C>T	17	41063338	41063338	C	T	G6PC1	c.969C>T	NM_000151.4	NP_000142.2:p.(Tyr323=)	NC_000017.10:g.41063338C>T	(Likely) benign	1 lab	c66fee699e
6:33146880 COL11A2 G>A	6	33146880	33146880	G	A	COL11A2	c.1581C>T	NM_080680.3	NP_542411.2:p.(Leu527=)	NC_000006.11:g.33146880G>A	(Likely) benign	1 lab	c674bdeebe
7:128494947 FLNC CTA>C	7	128494947	128494950	CTA	C	FLNC	c.7118_7119del	NM_001458.5	NP_001449.3:p.(Tyr2373CysfsTer7)	NC_000007.13:g.128494949_128494950del	(Likely) pathogenic	1 lab	c6765ce638
3:194147859 ATP13A3 C>T	3	194147859	194147859	C	T	ATP13A3	c.3070G>A	NM_024524.4	NP_078800.3:p.(Gly1024Ser)	NC_000003.11:g.194147859C>T	(Likely) benign	1 lab	c6767bba72
8:38271216 FGFR1 G>A	8	38271216	38271216	G	A	FGFR1	c.2369C>T	NM_001174064.2	NP_001167535.1:p.(Pro790Leu)	NC_000008.10:g.38271216G>A	VUS	1 lab	c67710342e
1:10436647 KIF1B T>C	1	10436647	10436647	T	C	KIF1B	c.*2T>C	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10436647T>C	(Likely) benign	1 lab	c6789ce87b
2:121685040 GLI2 C>T	2	121685040	121685040	C	T	GLI2	c.252C>T	NM_001371271.1	NP_001358200.1:p.(His84=)	NC_000002.11:g.121685040C>T	(Likely) benign	1 lab	c67a1f45c9
1:147231334 GJA5 T>C	1	147231334	147231334	T	C	GJA5	c.13A>G	NM_005266.7	NP_005257.2:p.(Ser5Gly)	NC_000001.10:g.147231334T>C	(Likely) benign	1 lab	c67d3412d3
6:161916753 PRKN Ref too long to show for this DEL>T	6	161916753	162054433	Ref too long to show for this DEL	T	PRKN	c.872-63985_1083+53132del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.161916754_162054433del	(Likely) pathogenic	1 lab	c67e4854d2
11:9838499 SBF2 C>T	11	9838499	9838499	C	T	SBF2	c.3866G>A	NM_030962.4	NP_112224.1:p.(Arg1289Gln)	NC_000011.9:g.9838499C>T	VUS	1 lab	c67ea8b91a
X:64419018 ZC3H12B Ref too long to show for this DEL>T	X	64419018	64712355	Ref too long to show for this DEL	T	ZC3H12B	c.-568+123230_608+3066del	NM_001010888.4	NP_001010888.3:p.?	NC_000023.10:g.64419022_64712355del	VUS	1 lab	c67f9d7791
16:46764519 MYLK3 G>A	16	46764519	46764519	G	A	MYLK3	c.1554C>T	NM_182493.3	NP_872299.2:p.(His518=)	NC_000016.9:g.46764519G>A	(Likely) benign	1 lab	c67fc499d4
8:75272371 GDAP1 G>A	8	75272371	75272371	G	A	GDAP1	c.311-1G>A	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75272371G>A	(Likely) pathogenic	1 lab	c681618714
X:100653869 GLA G>A	X	100653869	100653869	G	A	GLA	c.705C>T	NM_000169.3	NP_000160.1:p.(Ser235=)	NC_000023.10:g.100653869G>A	(Likely) benign	1 lab	c681999e65
1:13910417 PDPN C>T	1	13910417	13910417	C	T	PDPN	c.-112C>T	NM_006474.5	NP_006465.4:p.?	NC_000001.10:g.13910417C>T	(Likely) benign	1 lab	c682a9e275
2:241658567 KIF1A C>T	2	241658567	241658567	C	T	KIF1A	c.5070G>A	NM_001244008.2	NP_001230937.1:p.(Thr1690=)	NC_000002.11:g.241658567C>T	(Likely) benign	1 lab	c68414257b
16:921238 LMF1 G>A	16	921238	921238	G	A	LMF1	c.1001C>T	NM_022773.4	NP_073610.2:p.(Ser334Phe)	NC_000016.9:g.921238G>A	(Likely) benign	1 lab	c685ead270
2:162276756 TBR1 A>G	2	162276756	162276756	A	G	TBR1	c.1178A>G	NM_006593.4	NP_006584.1:p.(Asp393Gly)	NC_000002.11:g.162276756A>G	VUS	1 lab	c687212efd
4:100510918 MTTP A>G	4	100510918	100510918	A	G	MTTP	c.501+11A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510918A>G	(Likely) benign	1 lab	c68a924311
13:32936725 BRCA2 A>G	13	32936725	32936725	A	G	BRCA2	c.7871A>G	NM_000059.4	NP_000050.3:p.(Tyr2624Cys)	NC_000013.10:g.32936725A>G	VUS	1 lab	c68bc07ddd
4:128843103 MFSD8 A>T	4	128843103	128843103	A	T	MFSD8	c.1014T>A	NM_152778.3	NP_689991.1:p.(Ala338=)	NC_000004.11:g.128843103A>T	(Likely) benign	1 lab	c6938dd05a
1:156084878 LMNA G>T	1	156084878	156084878	G	T	LMNA	c.169G>T	NM_170707.4	NP_733821.1:p.(Ala57Ser)	NC_000001.10:g.156084878G>T	VUS	1 lab	c694939b71
8:19796761 LPL A>T	8	19796761	19796761	A	T	LPL				NC_000008.10:g.19796761A>T	VUS	1 lab	c6962b9e4a
16:11647420 LITAF A>C	16	11647420	11647420	A	C	LITAF	c.346T>G	NM_004862.4	NP_004853.2:p.(Trp116Gly)	NC_000016.9:g.11647420A>C	(Likely) pathogenic	1 lab	c6965f3adf
5:140062741 HARS1 G>A	5	140062741	140062741	G	A	HARS1	c.244C>T	NM_001258041.3	NP_001244970.1:p.(Arg82Cys)	NC_000005.9:g.140062741G>A	VUS	1 lab	c69761dc46
11:108186785 ATM C>A	11	108186785	108186785	C	A	ATM	c.6143C>A	NM_000051.4	NP_000042.3:p.(Thr2048Lys)	NC_000011.9:g.108186785C>A	VUS	1 lab	c697e10214
X:47487009 CFP C>A	X	47487009	47487009	C	A	CFP	c.435G>T	NM_001145252.3	NP_001138724.1:p.(Trp145Cys)	NC_000023.10:g.47487009C>A	VUS	1 lab	c698277749
10:88451760 LDB3 G>A	10	88451760	88451760	G	A	LDB3	c.1001G>A	NM_001171610.2	NP_001165081.1:p.(Arg334His)	NC_000010.10:g.88451760G>A	VUS	1 lab	c699fefff7
2:179518408 TTN CA>C	2	179518408	179518410	CA	C	TTN	c.38565del	NM_001267550.2	NP_001254479.2:p.(Val12856SerfsTer91)	NC_000002.11:g.179518410del	VUS	1 lab	c69bca4461
14:29237326 FOXG1 CG>C	14	29237326	29237329	CG	C	FOXG1	c.844del	NM_005249.5	NP_005240.3:p.(Ala282ProfsTer44)	NC_000014.8:g.29237329del	(Likely) pathogenic	1 lab	c69d5bd993
8:75272446 GDAP1 G>A	8	75272446	75272446	G	A	GDAP1	c.385G>A	NM_018972.4	NP_061845.2:p.(Asp129Asn)	NC_000008.10:g.75272446G>A	VUS	1 lab	c69d6ca1d8
2:232952191 DIS3L2 C>T	2	232952191	232952191	C	T	DIS3L2	c.367-6C>T	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.232952191C>T	(Likely) benign	1 lab	c69ea2d758
5:121786403 SNCAIP C>T	5	121786403	121786403	C	T	SNCAIP	c.2002C>T	NM_001308100.2	NP_001295029.1:p.(Arg668Cys)	NC_000005.9:g.121786403C>T	(Likely) benign	1 lab	c69eec1146
8:144297356 GPIHBP1 T>C	8	144297356	144297356	T	C	GPIHBP1	c.518T>C	NM_178172.6	NP_835466.2:p.(Leu173Pro)	NC_000008.10:g.144297356T>C	VUS	1 lab	c6a3147374
2:225225646 MISSING T>Alt too long to show for this DUP	2	225225646	225298674	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.225225647_225298674dup	VUS	1 lab	c6a3419d31
2:21246207 APOB A>G	2	21246207	21246207	A	G	APOB	c.2604+190T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21246207A>G	(Likely) benign	1 lab	c6a5800919
1:185834976 HMCN1 A>G	1	185834976	185834976	A	G	HMCN1	c.602A>G	NM_031935.3	NP_114141.2:p.(Asp201Gly)	NC_000001.10:g.185834976A>G	(Likely) benign	1 lab	c6a85b555d
X:100655905 GLA C>T	X	100655905	100655905	C	T	GLA	c.548-160G>A	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100655905C>T	(Likely) benign	1 lab	c6af40136d
16:943121 LMF1 C>T	16	943121	943121	C	T	LMF1	c.265-49G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943121C>T	(Likely) benign	1 lab	c6b57297eb
2:179416834 TTN G>A	2	179416834	179416834	G	A	TTN	c.83089C>T	NM_133378.4	NP_596869.4:p.(Arg27697Trp)	NC_000002.11:g.179416834G>A	VUS	1 lab	c6b76ba833
2:179544399 TTN T>C	2	179544399	179544399	T	C	TTN	c.33591A>G	NM_001267550.2	NP_001254479.2:p.(Val11197=)	NC_000002.11:g.179544399T>C	(Likely) benign	1 lab	c6b888c3ad
1:55523027 PCSK9 T>C	1	55523027	55523027	T	C	PCSK9	c.1020T>C	NM_174936.4	NP_777596.2:p.(Asn340=)	NC_000001.10:g.55523027T>C	(Likely) benign	1 lab	c6be76ec52
3:195452872 MUC20 A>C	3	195452872	195452872	A	C	MUC20	c.1398A>C	NM_001282506.2	NP_001269435.1:p.(Glu466Asp)	NC_000003.11:g.195452872A>C	(Likely) benign	1 lab	c6c0583707
2:44040308 ABCG5 C>T	2	44040308	44040308	C	T	ABCG5	c.1903G>A	NM_022436.3	NP_071881.1:p.(Val635Ile)	NC_000002.11:g.44040308C>T	VUS	1 lab	c6c10b456c
18:77478027 CTDP1 G>A	18	77478027	77478027	G	A	CTDP1	c.2417+11G>A	NM_048368.4	NP_430255.2:p.?	NC_000018.9:g.77478027G>A	(Likely) benign	1 lab	c6c29e4b0e
10:90983456 LIPA C>G	10	90983456	90983456	C	G	LIPA	c.807G>C	NM_000235.4	NP_000226.2:p.(Glu269Asp)	NC_000010.10:g.90983456C>G	VUS	1 lab	c6c32ee9fb
8:100712159 VPS13B T>G	8	100712159	100712159	T	G	VPS13B	c.6528T>G	NM_017890.5	NP_060360.3:p.(Pro2176=)	NC_000008.10:g.100712159T>G	(Likely) benign	1 lab	c6c43511ac
3:50405242 CACNA2D2 C>T	3	50405242	50405242	C	T	CACNA2D2	c.2234+1G>A	NM_001005505.3	NP_001005505.1:p.?	NC_000003.11:g.50405242C>T	(Likely) pathogenic	1 lab	c6c5a26e6b
14:81609304 TSHR G>A	14	81609304	81609304	G	A	TSHR	c.902G>A	NM_000369.5	NP_000360.2:p.(Cys301Tyr)	NC_000014.8:g.81609304G>A	VUS	1 lab	c817e61ffa
X:40982956 USP9X G>GC	X	40982956	40982963	G	GC	USP9X	c.82dup	NM_001039590.3	NP_001034679.2:p.(Leu28ProfsTer10)	NC_000023.10:g.40982963dup	(Likely) pathogenic	1 lab	c6cc4f11d7
18:2656248 SMCHD1 G>C	18	2656248	2656248	G	C	SMCHD1	c.174G>C	NM_015295.3	NP_056110.2:p.(Ala58=)	NC_000018.9:g.2656248G>C	(Likely) benign	1 lab	c6cdeab8a2
19:8186281 FBN3 A>AG	19	8186281	8186286	A	AG	FBN3	c.3083-12dup	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8186286dup	(Likely) benign	1 lab	c6d1333de3
7:128480527 FLNC C>A	7	128480527	128480527	C	A	FLNC	c.1550-75C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480527C>A	(Likely) benign	1 lab	c6d13ed929
1:9890957 MISSING Ref too long to show for this DEL>T	1	9890957	9924945	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.9890958_9924945del	VUS	1 lab	c6d3aa06a2
2:219678755 CYP27A1 G>A	2	219678755	219678755	G	A	CYP27A1	c.1029G>A	NM_000784.4	NP_000775.1:p.(Thr343=)	NC_000002.11:g.219678755G>A	(Likely) benign	1 lab	c6d3b65265
14:75568442 NEK9 CGTT>C	14	75568442	75568447	CGTT	C	NEK9	c.1755_1757del	NM_033116.6	NP_149107.4:p.(Thr586del)	NC_000014.8:g.75568445_75568447del	(Likely) pathogenic	1 lab	c6d73729f2
9:107553784 ABCA1 G>GGCTCACT	9	107553784	107553787	G	GGCTCACT	ABCA1	c.5820+432_5820+433insAGTGAGC	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107553786_107553787insTCACTGC	(Likely) benign	1 lab	c6d8149898
1:180240953 LHX4 T>C	1	180240953	180240953	T	C	LHX4	c.607-17T>C	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180240953T>C	(Likely) benign	1 lab	c6d82d12ca
14:105173607 INF2 G>C	14	105173607	105173607	G	C	INF2	c.1003G>C	NM_022489.4	NP_071934.3:p.(Glu335Gln)	NC_000014.8:g.105173607G>C	VUS	1 lab	c6d8bdac42
16:72130152 DHX38 G>T	16	72130152	72130152	G	T	DHX38	c.96G>T	NM_014003.4	NP_054722.2:p.(Ala32=)	NC_000016.9:g.72130152G>T	(Likely) benign	1 lab	c6dcd30418
7:26223739 MISSING Ref too long to show for this DEL>C	7	26223739	26260756	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.26223741_26260756del	VUS	1 lab	c6ddd2dd4b
1:33276595 YARS1 C>T	1	33276595	33276595	C	T	YARS1	c.121G>A	NM_003680.4	NP_003671.1:p.(Gly41Arg)	NC_000001.10:g.33276595C>T	(Likely) pathogenic	1 lab	c6de82bb48
X:7820634 MISSING Ref too long to show for this DEL>G	X	7820634	8425637	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.7820636_8425637del	VUS	1 lab	c6dffbb74f
6:32497947 HLA-DRB5 G>A	6	32497947	32497947	G	A	HLA-DRB5	c.55C>T	NM_002125.4	NP_002116.2:p.(Leu19=)	NC_000006.11:g.32497947G>A	(Likely) benign	1 lab	c6fdbf2171
X:129769934 ENOX2 G>Alt too long to show for this DUP	X	129769934	129784761	G	Alt too long to show for this DUP	ENOX2	c.1129+5794_1312-870dup	NM_006375.4	NP_006366.2:p.?	NC_000023.10:g.129769935_129784761dup	VUS	1 lab	c6e2193f9e
8:19796711 LPL G>C	8	19796711	19796711	G	C	LPL				NC_000008.10:g.19796711G>C	(Likely) benign	1 lab	c6e6fff5b2
16:46766340 MYLK3 T>C	16	46766340	46766340	T	C	MYLK3	c.1242A>G	NM_182493.3	NP_872299.2:p.(Ala414=)	NC_000016.9:g.46766340T>C	(Likely) benign	1 lab	c6f11df09a
1:75009654 TNNI3K G>A	1	75009654	75009654	G	A	TNNI3K	c.2496G>A	NM_015978.3	NP_057062.1:p.(Glu832=)	NC_000001.10:g.75009654G>A	(Likely) benign	1 lab	c6f791316e
17:80715648 MISSING C>Alt too long to show for this DUP	17	80715648	81052608	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.80715649_81052608dup	VUS	1 lab	c8187acf1c
17:6374521 PITPNM3 C>T	17	6374521	6374521	C	T	PITPNM3	c.1584G>A	NM_031220.4	NP_112497.2:p.(Ser528=)	NC_000017.10:g.6374521C>T	(Likely) benign	1 lab	c6fb743780
8:19811722 LPL A>G	8	19811722	19811722	A	G	LPL	c.633A>G	NM_000237.3	NP_000228.1:p.(Thr211=)	NC_000008.10:g.19811722A>G	(Likely) benign	1 lab	c6fc703565
16:16248822 ABCC6 C>G	16	16248822	16248822	C	G	ABCC6	c.3607G>C	NM_001351800.1	NP_001338729.1:p.(Glu1203Gln)	NC_000016.9:g.16248822C>G	VUS	1 lab	c6fc70aac2
7:72313383 MISSING Ref too long to show for this DEL>A	7	72313383	72351555	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72313384_72351555del	VUS	1 lab	c6fe0a32c2
1:216144915 USH2A T>C	1	216144915	216144915	T	C	USH2A	c.6806-797A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216144915T>C	(Likely) benign	1 lab	c702e0a416
11:116662587 APOA5 G>C	11	116662587	116662587	G	C	APOA5	c.-11C>G	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662587G>C	(Likely) benign	1 lab	c704a6551c
2:241679464 KIF1A A>G	2	241679464	241679464	A	G	KIF1A	c.3901+11T>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241679464A>G	(Likely) benign	1 lab	c706acef03
9:73424994 TRPM3 T>G	9	73424994	73424994	T	G	TRPM3	c.973+17769A>C	NM_001007471.4	NP_001007472.2:p.?	NC_000009.11:g.73424994T>G	(Likely) benign	1 lab	c707d0cb51
13:51907795 MISSING Ref too long to show for this DEL>A	13	51907795	52418266	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.51907799_52418266del	VUS	1 lab	c70935d43e
6:32038046 TNXB G>A	6	32038046	32038046	G	A	TNXB	c.5136C>T	NM_019105.8	NP_061978.6:p.(Asp1712=)	NC_000006.11:g.32038046G>A	(Likely) benign	1 lab	c70a8f7e44
14:21679703 HNRNPC T>A	14	21679703	21679703	T	A	HNRNPC	c.699A>T	NM_031314.3	NP_112604.2:p.(Ser233=)	NC_000014.8:g.21679703T>A	(Likely) benign	1 lab	c70d046869
22:51063558 ARSA C>T	22	51063558	51063558	C	T	ARSA	c.*15G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063558C>T	(Likely) benign	1 lab	c714b5139a
2:179422050 TTN A>G	2	179422050	179422050	A	G	TTN	c.80235T>C	NM_133378.4	NP_596869.4:p.(Tyr26745=)	NC_000002.11:g.179422050A>G	(Likely) benign	1 lab	c7158cb36b
3:123418847 MYLK C>G	3	123418847	123418847	C	G	MYLK	c.3448+20G>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123418847C>G	(Likely) benign	1 lab	c717fd916c
12:32974461 PKP2 T>C	12	32974461	32974461	T	C	PKP2	c.1974A>G	NM_004572.4	NP_004563.2:p.(Gln658=)	NC_000012.11:g.32974461T>C	(Likely) benign	1 lab	c719da4c93
19:53954262 MISSING A>Alt too long to show for this DUP	19	53954262	54609085	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.53954264_54609085dup	VUS	1 lab	c721a94f09
1:216371668 USH2A G>A	1	216371668	216371668	G	A	USH2A	c.4070C>T	NM_206933.4	NP_996816.3:p.(Thr1357Met)	NC_000001.10:g.216371668G>A	VUS	1 lab	c724958b03
10:73455160 CDH23 CT>C	10	73455160	73455162	CT	C	CDH23	c.2290-13del	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73455162del	(Likely) benign	1 lab	c726642d59
2:44100979 ABCG8 C>T	2	44100979	44100979	C	T	ABCG8	c.1265C>T	NM_022437.3	NP_071882.1:p.(Ala422Val)	NC_000002.11:g.44100979C>T	VUS	1 lab	c72ed278cf
5:71495279 MAP1B C>T	5	71495279	71495279	C	T	MAP1B	c.6097C>T	NM_005909.5	NP_005900.2:p.(Arg2033Ter)	NC_000005.9:g.71495279C>T	(Likely) pathogenic	1 lab	c72f74f370
14:23856838 MYH6 T>TGCTCA	14	23856838	23856844	T	TGCTCA	MYH6	c.4545_4549dup	NM_002471.4	NP_002462.2:p.(Gln1517LeufsTer4)	NC_000014.8:g.23856840_23856844dup	VUS	1 lab	c72f872b20
12:21325669 SLCO1B1 G>A	12	21325669	21325669	G	A	SLCO1B1	c.170G>A	NM_006446.5	NP_006437.3:p.(Arg57Gln)	NC_000012.11:g.21325669G>A	(Likely) benign	1 lab	c7320c82a4
7:6027197 PMS2 T>G	7	6027197	6027197	T	G	PMS2	c.1199A>C	NM_000535.7	NP_000526.2:p.(Gln400Pro)	NC_000007.13:g.6027197T>G	(Likely) benign	1 lab	c73335f7a5
15:40268854 EIF2AK4 G>A	15	40268854	40268854	G	A	EIF2AK4	c.2058G>A	NM_001013703.4	NP_001013725.2:p.(Pro686=)	NC_000015.9:g.40268854G>A	(Likely) benign	1 lab	c7339c9bf7
15:51133527 MISSING Ref too long to show for this DEL>T	15	51133527	51196595	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.51133528_51196595del	VUS	1 lab	c735ab77bc
7:154379341 DPP6 C>T	7	154379341	154379341	C	T	DPP6	c.*457C>T	NM_001364502.2	NP_001351431.1:p.?	NC_000007.13:g.154379341C>T	VUS	1 lab	c7382df745
10:73563112 CDH23 G>A	10	73563112	73563112	G	A	CDH23	c.7807G>A	NM_022124.6	NP_071407.4:p.(Asp2603Asn)	NC_000010.10:g.73563112G>A	VUS	1 lab	c739c579da
20:34078517 CEP250 G>A	20	34078517	34078517	G	A	CEP250	c.2641G>A	NM_007186.6	NP_009117.2:p.(Glu881Lys)	NC_000020.10:g.34078517G>A	(Likely) benign	1 lab	c73a9de6ca
19:17013546 CPAMD8 C>T	19	17013546	17013546	C	T	CPAMD8	c.4598G>A	NM_015692.5	NP_056507.3:p.(Arg1533Gln)	NC_000019.9:g.17013546C>T	(Likely) benign	1 lab	c73be6d1c5
2:176981982 HOXD10 G>A	2	176981982	176981982	G	A	HOXD10	c.421G>A	NM_002148.4	NP_002139.2:p.(Val141Ile)	NC_000002.11:g.176981982G>A	VUS	1 lab	c73f337449
1:63066810 ANGPTL3 G>A	1	63066810	63066810	G	A	ANGPTL3	c.664G>A	NM_014495.4	NP_055310.1:p.(Ala222Thr)	NC_000001.10:g.63066810G>A	VUS	1 lab	c740a1b85c
2:183507566 MISSING Ref too long to show for this DEL>G	2	183507566	185027845	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.183507567_185027845del	(Likely) pathogenic	1 lab	c7416e2053
16:16295957 ABCC6 T>C	16	16295957	16295957	T	C	ABCC6	c.1077A>G	NM_001171.6	NP_001162.5:p.(Ser359=)	NC_000016.9:g.16295957T>C	(Likely) benign	1 lab	c74d3b612f
17:16602929 MISSING Ref too long to show for this DEL>C	17	16602929	20221836	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.16602930_20221836del	(Likely) pathogenic	1 lab	c751e3ccdc
11:121416106 SORL1 C>T	11	121416106	121416106	C	T	SORL1	c.2019C>T	NM_003105.6	NP_003096.2:p.(Ser673=)	NC_000011.9:g.121416106C>T	(Likely) benign	1 lab	c754a478f0
8:75263637 GDAP1 C>T	8	75263637	75263637	C	T	GDAP1	c.246C>T	NM_018972.4	NP_061845.2:p.(His82=)	NC_000008.10:g.75263637C>T	(Likely) benign	1 lab	c7578d1e50
20:25282967 ABHD12 C>T	20	25282967	25282967	C	T	ABHD12	c.1045G>A	NM_001042472.3	NP_001035937.1:p.(Ala349Thr)	NC_000020.10:g.25282967C>T	(Likely) benign	1 lab	c75ae66352
2:179584002 TTN C>T	2	179584002	179584002	C	T	TTN	c.24115G>A	NM_001267550.2	NP_001254479.2:p.(Val8039Ile)	NC_000002.11:g.179584002C>T	VUS	1 lab	c75dbbc0bb
7:100243937 ACTL6B C>T	7	100243937	100243937	C	T	ACTL6B	c.1135G>A	NM_016188.5	NP_057272.1:p.(Ala379Thr)	NC_000007.13:g.100243937C>T	VUS	1 lab	c75ff53dba
1:237947338 RYR2 T>G	1	237947338	237947338	T	G	RYR2	c.12326T>G	NM_001035.3	NP_001026.2:p.(Met4109Arg)	NC_000001.10:g.237947338T>G	(Likely) pathogenic	1 lab	c760bda6b3
8:97321823 PTDSS1 G>A	8	97321823	97321823	G	A	PTDSS1	c.608G>A	NM_001290225.2	NP_001277154.1:p.(Arg203His)	NC_000008.10:g.97321823G>A	VUS	1 lab	c76214b904
10:61832626 ANK3 G>A	10	61832626	61832626	G	A	ANK3	c.8013C>T	NM_020987.5	NP_066267.2:p.(Ser2671=)	NC_000010.10:g.61832626G>A	(Likely) benign	1 lab	c764a546a2
16:88501690 ZNF469 CA>C	16	88501690	88501693	CA	C	ZNF469	c.7815del	NM_001367624.2	NP_001354553.1:p.(Lys2605AsnfsTer34)	NC_000016.9:g.88501693del	(Likely) pathogenic	1 lab	c764f99103
5:149441132 CSF1R C>T	5	149441132	149441132	C	T	CSF1R	c.1780G>A	NM_005211.4	NP_005202.2:p.(Gly594Arg)	NC_000005.9:g.149441132C>T	(Likely) pathogenic	1 lab	c767706c38
3:37042469 MLH1 T>G	3	37042469	37042469	T	G	MLH1	c.231T>G	NM_000249.4	NP_000240.1:p.(Cys77Trp)	NC_000003.11:g.37042469T>G	(Likely) pathogenic	1 lab	c76b6941ce
6:126080597 HEY2 C>T	6	126080597	126080597	C	T	HEY2	c.663C>T	NM_012259.3	NP_036391.1:p.(Ala221=)	NC_000006.11:g.126080597C>T	(Likely) benign	1 lab	c76d43f60b
18:47112681 LIPG T>C	18	47112681	47112681	T	C	LIPG	c.1377-435T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47112681T>C	(Likely) benign	1 lab	c772e99fb3
5:121413456 LOX G>T	5	121413456	121413456	G	T	LOX	c.225C>A	NM_002317.7	NP_002308.2:p.(Ala75=)	NC_000005.9:g.121413456G>T	(Likely) benign	1 lab	c778901d1c
11:17553093 USH1C T>C	11	17553093	17553093	T	C	USH1C	c.105-4A>G	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17553093T>C	(Likely) benign	1 lab	c8d59566fd
15:48776224 FBN1 A>G	15	48776224	48776224	A	G	FBN1	c.3713-84T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48776224A>G	(Likely) benign	1 lab	c77985c631
15:31339294 TRPM1 A>G	15	31339294	31339294	A	G	TRPM1	c.1815+20T>C	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31339294A>G	(Likely) benign	1 lab	c77a9c614f
4:70146423 UGT2B28 G>A	4	70146423	70146423	G	A	UGT2B28	c.205G>A	NM_053039.2	NP_444267.1:p.(Ala69Thr)	NC_000004.11:g.70146423G>A	(Likely) benign	1 lab	c77b8f51c1
1:216040339 USH2A GCTTA>G	1	216040339	216040350	GCTTA	G	USH2A	c.8845+6_8845+9del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216040347_216040350del	(Likely) benign	1 lab	c77db4cf7c
22:25024275 GGT1 G>A	22	25024275	25024275	G	A	GGT1	c.1483G>A	NM_001288833.2	NP_001275762.1:p.(Val495Met)	NC_000022.10:g.25024275G>A	(Likely) benign	1 lab	c77e32b76c
19:11216238 LDLR GC>G	19	11216238	11216242	GC	G	LDLR	c.660del	NM_000527.5	NP_000518.1:p.(Asp221ThrfsTer44)	NC_000019.9:g.11216242del	(Likely) pathogenic	1 lab	c78076e1a3
16:3632584 SLX4 G>A	16	3632584	3632584	G	A	SLX4	c.5264C>T	NM_032444.4	NP_115820.2:p.(Ala1755Val)	NC_000016.9:g.3632584G>A	VUS	1 lab	c780b06093
4:100511254 MTTP C>T	4	100511254	100511254	C	T	MTTP	c.501+347C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100511254C>T	(Likely) benign	1 lab	c78455818b
1:168054754 GPR161 G>A	1	168054754	168054754	G	A	GPR161	c.*15C>T	NM_001349632.1	NP_001336561.1:p.?	NC_000001.10:g.168054754G>A	(Likely) benign	1 lab	c785645b8b
9:140014768 MISSING C>Alt too long to show for this DUP	9	140014768	140930811	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140014769_140930811dup	(Likely) pathogenic	1 lab	c785a66d4b
16:77950882 VAT1L Ref too long to show for this DEL>A	16	77950882	77992628	Ref too long to show for this DEL	A	VAT1L	c.1077+32188_1078-13119del	NM_020927.3	NP_065978.1:p.?	NC_000016.9:g.77950887_77992628del	(Likely) pathogenic	1 lab	c7887b31b5
9:113261483 SVEP1 C>T	9	113261483	113261483	C	T	SVEP1	c.1519G>A	NM_153366.4	NP_699197.3:p.(Val507Ile)	NC_000009.11:g.113261483C>T	(Likely) benign	1 lab	c78cab8121
18:58038781 MC4R A>G	18	58038781	58038781	A	G	MC4R	c.802T>C	NM_005912.3	NP_005903.2:p.(Tyr268His)	NC_000018.9:g.58038781A>G	VUS	1 lab	c78edbf7d6
21:44484191 CBS G>A	21	44484191	44484191	G	A	CBS	c.737-90C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44484191G>A	(Likely) benign	1 lab	c7902f47b8
1:55522141 PCSK9 A>G	1	55522141	55522141	A	G	PCSK9	c.996+279A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522141A>G	(Likely) benign	1 lab	c790db87a5
2:38895965 GALM Ref too long to show for this DEL>A	2	38895965	38932067	Ref too long to show for this DEL	A	GALM	c.190+2473_634+15031del	NM_138801.3	NP_620156.1:p.?	NC_000002.11:g.38895966_38932067del	VUS	1 lab	c79468a824
X:70443855 GJB1 C>T	X	70443855	70443855	C	T	GJB1	c.298C>T	NM_000166.6	NP_000157.1:p.(His100Tyr)	NC_000023.10:g.70443855C>T	(Likely) pathogenic	1 lab	c79b0124a4
16:29427215 MISSING Ref too long to show for this DEL>A	16	29427215	30348686	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29427220_30348686del	(Likely) pathogenic	1 lab	c79b13c42f
7:100806851 VGF G>A	7	100806851	100806851	G	A	VGF	c.1274C>T	NM_003378.4	NP_003369.2:p.(Pro425Leu)	NC_000007.13:g.100806851G>A	VUS	1 lab	c79bbe32a3
1:179834060 TOR1AIP2 T>C	1	179834060	179834060	T	C	TOR1AIP2	c.252A>G	NM_022347.5	NP_071742.1:p.(Lys84=)	NC_000001.10:g.179834060T>C	(Likely) benign	1 lab	c79ebd9b12
2:21237030 APOB T>C	2	21237030	21237030	T	C	APOB	c.3842+290A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237030T>C	(Likely) benign	1 lab	c7a28ae381
19:11213413 LDLR G>A	19	11213413	11213413	G	A	LDLR	c.264G>A	NM_000527.5	NP_000518.1:p.(Arg88=)	NC_000019.9:g.11213413G>A	(Likely) benign	1 lab	c7a67fa934
2:218472225 MISSING Ref too long to show for this DEL>G	2	218472225	225665193	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.218472226_225665193del	(Likely) pathogenic	1 lab	c7a69d888c
9:107602759 ABCA1 C>T	9	107602759	107602759	C	T	ABCA1	c.855G>A	NM_005502.4	NP_005493.2:p.(Val285=)	NC_000009.11:g.107602759C>T	VUS	1 lab	c7a770f06e
2:179595868 TTN A>G	2	179595868	179595868	A	G	TTN	c.17524T>C	NM_001267550.2	NP_001254479.2:p.(Leu5842=)	NC_000002.11:g.179595868A>G	(Likely) benign	1 lab	c7a7d45551
2:179596945 TTN A>T	2	179596945	179596945	A	T	TTN	c.13019T>A	NM_133378.4	NP_596869.4:p.(Ile4340Asn)	NC_000002.11:g.179596945A>T	VUS	1 lab	c7a95b1b39
12:125294731 SCARB1 C>T	12	125294731	125294731	C	T	SCARB1	c.831G>A	NM_001367981.1	NP_001354910.1:p.(Pro277=)	NC_000012.11:g.125294731C>T	(Likely) benign	1 lab	c7acf70ba1
9:123223026 CDK5RAP2 C>CT	9	123223026	123223037	C	CT	CDK5RAP2	c.2107-82dup	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123223037dup	(Likely) benign	1 lab	c7ae447a5a
12:21331987 SLCO1B1 C>T	12	21331987	21331987	C	T	SLCO1B1	c.727+33C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331987C>T	(Likely) benign	1 lab	c7b0f111e2
1:186008981 HMCN1 T>C	1	186008981	186008981	T	C	HMCN1	c.6150T>C	NM_031935.3	NP_114141.2:p.(Ser2050=)	NC_000001.10:g.186008981T>C	(Likely) benign	1 lab	c7b15b66ba
7:72589514 MISSING Ref too long to show for this DEL>G	7	72589514	74356771	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72589515_74356771del	(Likely) pathogenic	1 lab	c7b87136c6
2:179479406 TTN G>T	2	179479406	179479406	G	T	TTN	c.48835C>A	NM_001267550.2	NP_001254479.2:p.(Pro16279Thr)	NC_000002.11:g.179479406G>T	VUS	1 lab	c7b9647a2d
9:137717566 COL5A1 G>A	9	137717566	137717566	G	A	COL5A1	c.4955-72G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137717566G>A	(Likely) benign	1 lab	c7bd398f9b
1:55512549 PCSK9 T>C	1	55512549	55512549	T	C	PCSK9	c.523+230T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512549T>C	(Likely) benign	1 lab	c7bf9cd759
7:143964381 CTAGE8 T>C	7	143964381	143964381	T	C	CTAGE8	c.1963A>G	NM_001278507.1	NP_001265436.1:p.(Arg655Gly)	NC_000007.13:g.143964381T>C	(Likely) benign	1 lab	c7bfbd36f4
19:2118716 AP3D1 T>C	19	2118716	2118716	T	C	AP3D1	c.1597A>G	NM_001261826.3	NP_001248755.1:p.(Ile533Val)	NC_000019.9:g.2118716T>C	VUS	1 lab	c7c41833db
6:64430824 EYS T>TA	6	64430824	64430825	T	TA	EYS	c.9165dup	NM_001292009.2	NP_001278938.1:p.(Asn3056Ter)	NC_000006.11:g.64430825dup	(Likely) pathogenic	1 lab	c7c47eb56d
1:103380379 COL11A1 TAA>T	1	103380379	103380392	TAA	T	COL11A1	c.3853-14_3853-13del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103380391_103380392del	(Likely) benign	1 lab	c7c65bb400
X:31196930 DMD G>A	X	31196930	31196930	G	A	DMD	c.9718-8C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31196930G>A	(Likely) benign	1 lab	c7cba0218e
11:47359314 MYBPC3 G>C	11	47359314	47359314	G	C	MYBPC3	c.2340C>G	NM_000256.3	NP_000247.2:p.(Ile780Met)	NC_000011.9:g.47359314G>C	VUS	1 lab	c7cbcd178f
2:239895654 MISSING A>Alt too long to show for this DUP	2	239895654	240039372	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.239895657_240039372dup	VUS	1 lab	c7cd42f1a2
7:151478429 PRKAG2 G>T	7	151478429	151478429	G	T	PRKAG2	c.275C>A	NM_016203.4	NP_057287.2:p.(Pro92His)	NC_000007.13:g.151478429G>T	VUS	1 lab	c7ce7ca46a
9:139403379 NOTCH1 G>A	9	139403379	139403379	G	A	NOTCH1	c.3114C>T	NM_017617.5	NP_060087.3:p.(Asp1038=)	NC_000009.11:g.139403379G>A	(Likely) benign	1 lab	c7d077cca7
2:179598053 TTN C>T	2	179598053	179598053	C	T	TTN	c.15967G>A	NM_001267550.2	NP_001254479.2:p.(Ala5323Thr)	NC_000002.11:g.179598053C>T	VUS	1 lab	c7d107e1a9
4:184917726 MISSING Ref too long to show for this DEL>G	4	184917726	185686502	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.184917727_185686502del	VUS	1 lab	c7d2d64c23
14:81422130 TSHR G>C	14	81422130	81422130	G	C	TSHR	c.106G>C	NM_000369.5	NP_000360.2:p.(Asp36His)	NC_000014.8:g.81422130G>C	(Likely) benign	1 lab	c7d33ecc6d
8:70994094 MISSING C>Alt too long to show for this DUP	8	70994094	71128910	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.70994096_71128910dup	VUS	1 lab	c7de823e5e
9:98231100 PTCH1 G>A	9	98231100	98231100	G	A	PTCH1	c.2183C>T	NM_000264.5	NP_000255.2:p.(Thr728Met)	NC_000009.11:g.98231100G>A	(Likely) benign	1 lab	c7dedf7ea8
5:33947392 SLC45A2 A>G	5	33947392	33947392	A	G	SLC45A2	c.1244T>C	NM_016180.5	NP_057264.4:p.(Ile415Thr)	NC_000005.9:g.33947392A>G	VUS	1 lab	c7df077ff2
3:183755844 HTR3D C>T	3	183755844	183755844	C	T	HTR3D	c.696C>T	NM_001163646.2	NP_001157118.1:p.(Tyr232=)	NC_000003.11:g.183755844C>T	VUS	1 lab	c7dfd6f96d
13:32920986 BRCA2 G>A	13	32920986	32920986	G	A	BRCA2	c.6960G>A	NM_000059.4	NP_000050.3:p.(Leu2320=)	NC_000013.10:g.32920986G>A	(Likely) benign	1 lab	c7e71f7a96
1:2343936 PEX10 G>C	1	2343936	2343936	G	C	PEX10	c.6C>G	NM_153818.2	NP_722540.1:p.(Ala2=)	NC_000001.10:g.2343936G>C	(Likely) benign	1 lab	c7e7e2a3c8
16:85880 MISSING Ref too long to show for this DEL>G	16	85880	735154	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.85881_735154del	(Likely) pathogenic	1 lab	c7e7f01d35
17:33446580 RAD51D T>C	17	33446580	33446580	T	C	RAD51D	c.53A>G	NM_002878.4	NP_002869.3:p.(Gln18Arg)	NC_000017.10:g.33446580T>C	VUS	1 lab	c7eea76044
1:25880440 LDLRAP1 G>A	1	25880440	25880440	G	A	LDLRAP1	c.116G>A	NM_015627.3	NP_056442.2:p.(Arg39Gln)	NC_000001.10:g.25880440G>A	(Likely) pathogenic	1 lab	c8197f9646
8:87588262 CNGB3 CTTTATCTTCATTTTCTTTTTG>C	8	87588262	87588323	CTTTATCTTCATTTTCTTTTTG	C	CNGB3	c.2179_2199del	NM_019098.5	NP_061971.3:p.(Gln727_Lys733del)	NC_000008.10:g.87588303_87588323del	(Likely) benign	1 lab	c7f665ac93
1:201030579 CACNA1S A>G	1	201030579	201030579	A	G	CACNA1S	c.3071T>C	NM_000069.3	NP_000060.2:p.(Ile1024Thr)	NC_000001.10:g.201030579A>G	VUS	1 lab	c80403aa5b
2:48033423 MSH6 A>T	2	48033423	48033423	A	T	MSH6	c.3727A>T	NM_000179.3	NP_000170.1:p.(Thr1243Ser)	NC_000002.11:g.48033423A>T	(Likely) benign	1 lab	c80d931fd8
9:107568510 ABCA1 A>G	9	107568510	107568510	A	G	ABCA1	c.4464+12T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568510A>G	(Likely) benign	1 lab	c80d9fd9a9
9:136433708 ADAMTSL2 TC>T	9	136433708	136433713	TC	T	ADAMTSL2	c.2089-12del	NM_001145320.2	NP_001138792.1:p.?	NC_000009.11:g.136433713del	(Likely) benign	1 lab	c80f9947ab
2:179584889 TTN A>G	2	179584889	179584889	A	G	TTN	c.23480T>C	NM_001267550.2	NP_001254479.2:p.(Val7827Ala)	NC_000002.11:g.179584889A>G	VUS	1 lab	c810206eb7
5:95743944 PCSK1 A>C	5	95743944	95743944	A	C	PCSK1	c.1179T>G	NM_000439.5	NP_000430.3:p.(Ala393=)	NC_000005.9:g.95743944A>C	(Likely) benign	1 lab	c813221c9b
5:92920812 NR2F1 AGGCGGCCCGCGGC>A	5	92920812	92920831	AGGCGGCCCGCGGC	A	NR2F1	c.90_102del	NM_005654.6	NP_005645.1:p.(Arg31AlafsTer84)	NC_000005.9:g.92920819_92920831del	(Likely) pathogenic	1 lab	c813939295
18:47107926 LIPG G>A	18	47107926	47107926	G	A	LIPG	c.935G>A	NM_006033.4	NP_006024.1:p.(Arg312His)	NC_000018.9:g.47107926G>A	VUS	1 lab	c814629a1f
3:14173070 TMEM43 C>G	3	14173070	14173070	C	G	TMEM43	c.298-10C>G	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14173070C>G	(Likely) benign	1 lab	c8167e8ef9
8:105101451 RIMS2 A>Alt too long to show for this DUP	8	105101451	105153717	A	Alt too long to show for this DUP	RIMS2	c.3694-4247_3867-7118dup	NM_001348484.3	NP_001335413.1:p.?	NC_000008.10:g.105101452_105153717dup	VUS	1 lab	c81db17629
2:179419348 TTN T>C	2	179419348	179419348	T	C	TTN	c.88726A>G	NM_001267550.2	NP_001254479.2:p.(Thr29576Ala)	NC_000002.11:g.179419348T>C	VUS	1 lab	c81edfa970
1:116943647 ATP1A1 C>G	1	116943647	116943647	C	G	ATP1A1	c.2718+19C>G	NM_000701.8	NP_000692.2:p.?	NC_000001.10:g.116943647C>G	(Likely) benign	1 lab	c821101c27
21:34067499 SYNJ1 T>C	21	34067499	34067499	T	C	SYNJ1	c.573A>G	NM_203446.3	NP_982271.3:p.(Thr191=)	NC_000021.8:g.34067499T>C	(Likely) benign	1 lab	c8238661a8
11:47357212 MYBPC3 G>T	11	47357212	47357212	G	T	MYBPC3	c.2737+216C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357212G>T	(Likely) benign	1 lab	c8244237a1
17:41223181 BRCA1 C>A	17	41223181	41223181	C	A	BRCA1	c.4750G>T	NM_007294.4	NP_009225.1:p.(Ala1584Ser)	NC_000017.10:g.41223181C>A	(Likely) benign	1 lab	c82457b90d
7:104747953 KMT2E A>AAGGAACCTGT	7	104747953	104747963	A	AAGGAACCTGT	KMT2E	c.3050_3059dup	NM_182931.3	NP_891847.1:p.(Ser1021GlyfsTer14)	NC_000007.13:g.104747954_104747963dup	(Likely) pathogenic	1 lab	c825f03ba4
16:1021000 LMF1 C>CCGGAGGCCCCGCCCATTCT	16	1021000	1021051	C	CCGGAGGCCCCGCCCATTCT	LMF1	c.-362+10126_-362+10144dup	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021033_1021051dup	(Likely) benign	1 lab	c82c8d5c83
2:21247794 APOB T>G	2	21247794	21247794	T	G	APOB	c.2436+11A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21247794T>G	(Likely) benign	1 lab	c82d0bf39a
11:75898398 WNT11 T>G	11	75898398	75898398	T	G	WNT11	c.891-115A>C	NM_004626.3	NP_004617.2:p.?	NC_000011.9:g.75898398T>G	(Likely) benign	1 lab	c83015be72
5:180046783 FLT4 G>A	5	180046783	180046783	G	A	FLT4	c.2543-14C>T	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180046783G>A	(Likely) benign	1 lab	c830f3cbbd
17:10316058 MYH8 A>C	17	10316058	10316058	A	C	MYH8	c.1148-13T>G	NM_002472.3	NP_002463.2:p.?	NC_000017.10:g.10316058A>C	(Likely) benign	1 lab	c831208a2e
11:9861124 SBF2 T>A	11	9861124	9861124	T	A	SBF2	c.3376A>T	NM_001386339.1	NP_001373268.1:p.(Ile1126Leu)	NC_000011.9:g.9861124T>A	VUS	1 lab	c834499f95
13:32911073 BRCA2 C>T	13	32911073	32911073	C	T	BRCA2	c.2581C>T	NM_000059.4	NP_000050.3:p.(Gln861Ter)	NC_000013.10:g.32911073C>T	(Likely) pathogenic	1 lab	c835ac23bf
11:40361698 LRRC4C Ref too long to show for this DEL>A	11	40361698	40465057	Ref too long to show for this DEL	A	LRRC4C	c.-269-123785_-269-20428del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40361700_40465057del	VUS	1 lab	c836bb1e9a
14:23874013 MYH6 C>A	14	23874013	23874013	C	A	MYH6	c.549G>T	NM_002471.4	NP_002462.2:p.(Gly183=)	NC_000014.8:g.23874013C>A	(Likely) benign	1 lab	c838750d0d
11:5248218 HBB C>T	11	5248218	5248218	C	T	HBB	c.34G>A	NM_000518.5	NP_000509.1:p.(Val12Ile)	NC_000011.9:g.5248218C>T	VUS	1 lab	c83d3fe995
19:11224781 LDLR C>CA	19	11224781	11224798	C	CA	LDLR	c.1586+360dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224798dup	(Likely) benign	1 lab	c83e21b3b1
1:103496808 COL11A1 A>G	1	103496808	103496808	A	G	COL11A1	c.652-8T>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496808A>G	(Likely) benign	1 lab	c841e8a631
5:176866052 MISSING T>Alt too long to show for this DUP	5	176866052	176914921	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.176866053_176914921dup	VUS	1 lab	c84262fe58
1:237659825 RYR2 T>G	1	237659825	237659825	T	G	RYR2	c.1976T>G	NM_001035.3	NP_001026.2:p.(Ile659Ser)	NC_000001.10:g.237659825T>G	VUS	1 lab	c8460f8415
1:25893243 LDLRAP1 G>A	1	25893243	25893243	G	A	LDLRAP1	c.783-96G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893243G>A	(Likely) benign	1 lab	c84648616f
12:125267297 SCARB1 G>A	12	125267297	125267297	G	A	SCARB1	c.1462C>T	NM_005505.5	NP_005496.4:p.(Gln488Ter)	NC_000012.11:g.125267297G>A	VUS	1 lab	c84ae9e591
2:48033549 MSH6 CTC>TCTG	2	48033549	48033551	CTC	TCTG	MSH6	c.3802-42_3802-40delinsTCTG	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033549_48033551delinsTCTG	(Likely) benign	1 lab	c84fee5069
1:43224987 P3H1 C>T	1	43224987	43224987	C	T	P3H1	c.693G>A	NM_022356.4	NP_071751.3:p.(Ala231=)	NC_000001.10:g.43224987C>T	(Likely) benign	1 lab	c8516e662f
1:228109663 WNT9A G>A	1	228109663	228109663	G	A	WNT9A	c.654C>T	NM_003395.4	NP_003386.1:p.(His218=)	NC_000001.10:g.228109663G>A	(Likely) benign	1 lab	c85570fc25
6:32037426 TNXB C>T	6	32037426	32037426	C	T	TNXB	c.5491G>A	NM_019105.8	NP_061978.6:p.(Val1831Met)	NC_000006.11:g.32037426C>T	(Likely) benign	1 lab	c859666149
2:29446191 ALK G>A	2	29446191	29446191	G	A	ALK	c.3359+17C>T	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29446191G>A	(Likely) benign	1 lab	c85aace97f
2:179577262 TTN C>T	2	179577262	179577262	C	T	TTN	c.27387G>A	NM_001267550.2	NP_001254479.2:p.(Leu9129=)	NC_000002.11:g.179577262C>T	(Likely) benign	1 lab	c85e07f603
7:128484986 FLNC G>A	7	128484986	128484986	G	A	FLNC	c.3467G>A	NM_001458.5	NP_001449.3:p.(Ser1156Asn)	NC_000007.13:g.128484986G>A	VUS	1 lab	c861aed884
6:110110816 FIG4 G>A	6	110110816	110110816	G	A	FIG4	c.2116G>A	NM_014845.6	NP_055660.1:p.(Val706Ile)	NC_000006.11:g.110110816G>A	VUS	1 lab	c866236cea
2:44105041 ABCG8 C>G	2	44105041	44105041	C	G	ABCG8	c.2011C>G	NM_022437.3	NP_071882.1:p.(Gln671Glu)	NC_000002.11:g.44105041C>G	VUS	1 lab	c867991125
3:38755549 SCN10A G>A	3	38755549	38755549	G	A	SCN10A	c.3704C>T	NM_006514.4	NP_006505.4:p.(Ala1235Val)	NC_000003.11:g.38755549G>A	VUS	1 lab	c868e709f1
18:47113191 LIPG G>A	18	47113191	47113191	G	A	LIPG	c.1452G>A	NM_006033.4	NP_006024.1:p.(Arg484=)	NC_000018.9:g.47113191G>A	(Likely) benign	1 lab	c86959e679
2:47630493 MSH2 C>G	2	47630493	47630493	C	G	MSH2	c.163C>G	NM_000251.3	NP_000242.1:p.(Arg55Gly)	NC_000002.11:g.47630493C>G	(Likely) benign	1 lab	c86b3dcd60
19:11239439 LDLR T>C	19	11239439	11239439	T	C	LDLR	c.2389+678T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239439T>C	(Likely) benign	1 lab	c86c1730cb
X:18660251 CDKL5 G>A	X	18660251	18660251	G	A	CDKL5	c.2714-3876G>A	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18660251G>A	(Likely) benign	1 lab	c86c9ca451
14:88454487 GALC C>A	14	88454487	88454487	C	A	GALC	c.328+1G>T	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88454487C>A	(Likely) pathogenic	1 lab	c86d2f6dcb
11:116661251 APOA5 A>G	11	116661251	116661251	A	G	APOA5	c.694T>C	NM_052968.5	NP_443200.2:p.(Ser232Pro)	NC_000011.9:g.116661251A>G	VUS	1 lab	c86e53a4d4
2:179566802 TTN TA>T	2	179566802	179566812	TA	T	TTN	c.30512-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566812del	(Likely) benign	1 lab	c86f5fcd2d
5:133948370 SAR1B AAG>A	5	133948370	133948373	AAG	A	SAR1B	c.244+9_244+10del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948372_133948373del	(Likely) benign	1 lab	c870759737
15:58855764 LIPC C>T	15	58855764	58855764	C	T	LIPC	c.1230C>T	NM_000236.3	NP_000227.2:p.(Ile410=)	NC_000015.9:g.58855764C>T	(Likely) benign	1 lab	c872f7ffbd
1:66074428 LEPR A>G	1	66074428	66074428	A	G	LEPR	c.1604-8A>G	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66074428A>G	(Likely) benign	1 lab	c8743f6221
16:58577337 CNOT1 C>A	16	58577337	58577337	C	A	CNOT1	c.4608G>T	NM_206999.3	NP_996882.1:p.(Met1536Ile)	NC_000016.9:g.58577337C>A	(Likely) benign	1 lab	c876b1d145
15:48795751 FBN1 T>C	15	48795751	48795751	T	C	FBN1	c.2113+233A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48795751T>C	(Likely) benign	1 lab	c876b39eba
12:48398056 COL2A1 C>A	12	48398056	48398056	C	A	COL2A1	c.49G>T	NM_001844.5	NP_001835.3:p.(Val17Phe)	NC_000012.11:g.48398056C>A	VUS	1 lab	c87750ddb0
2:21225930 APOB G>T	2	21225930	21225930	G	T	APOB	c.12364C>A	NM_000384.3	NP_000375.3:p.(Gln4122Lys)	NC_000002.11:g.21225930G>T	(Likely) benign	1 lab	c87b6b53d1
19:11230362 LDLR A>C	19	11230362	11230362	A	C	LDLR	c.1846-406A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230362A>C	(Likely) benign	1 lab	c87e1b4104
6:42141563 GUCA1ANB-GUCA1A G>T	6	42141563	42141563	G	T	GUCA1ANB-GUCA1A	c.201+11G>T	NM_001319061.2	NP_001305990.1:p.?	NC_000006.11:g.42141563G>T	(Likely) benign	1 lab	c87f2b8c11
9:137642459 COL5A1 G>A	9	137642459	137642459	G	A	COL5A1	c.1566G>A	NM_000093.5	NP_000084.3:p.(Leu522=)	NC_000009.11:g.137642459G>A	(Likely) benign	1 lab	c87f76d3ec
7:138602267 KIAA1549 A>T	7	138602267	138602267	A	T	KIAA1549	c.2105T>A	NM_001164665.2	NP_001158137.1:p.(Leu702Gln)	NC_000007.13:g.138602267A>T	(Likely) benign	1 lab	c87f94a587
2:21255249 APOB A>G	2	21255249	21255249	A	G	APOB	c.1329T>C	NM_000384.3	NP_000375.3:p.(Tyr443=)	NC_000002.11:g.21255249A>G	(Likely) benign	1 lab	c8819de2c5
2:179542439 TTN G>A	2	179542439	179542439	G	A	TTN	c.34200C>T	NM_001267550.2	NP_001254479.2:p.(Pro11400=)	NC_000002.11:g.179542439G>A	(Likely) benign	1 lab	c881e6c094
15:48717940 FBN1 A>C	15	48717940	48717940	A	C	FBN1	c.7326T>G	NM_000138.5	NP_000129.3:p.(Cys2442Trp)	NC_000015.9:g.48717940A>C	(Likely) pathogenic	1 lab	c882eaa90c
8:59404904 CYP7A1 G>A	8	59404904	59404904	G	A	CYP7A1	c.1215+8C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404904G>A	(Likely) benign	1 lab	c8835a6d4a
17:48270320 COL1A1 T>C	17	48270320	48270320	T	C	COL1A1	c.1821+35A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270320T>C	(Likely) benign	1 lab	c8841a94fc
14:23888678 MYH7 T>A	14	23888678	23888678	T	A	MYH7	c.3853+14A>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888678T>A	(Likely) benign	1 lab	c8850a7726
3:38763780 SCN10A A>T	3	38763780	38763780	A	T	SCN10A	c.3476T>A	NM_006514.4	NP_006505.4:p.(Ile1159Asn)	NC_000003.11:g.38763780A>T	VUS	1 lab	c88606c323
19:3094597 GNA11 GGGGGCCGGGGGGCGGCGGCGGGCAGGCGGCCGCGTCGGCC>G	19	3094597	3094646	GGGGGCCGGGGGGCGGCGGCGGGCAGGCGGCCGCGTCGGCC	G	GNA11	c.-43_-4del	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3094607_3094646del	(Likely) benign	1 lab	c8869dcdaf
15:64602406 CSNK1G1 Ref too long to show for this DEL>T	15	64602406	64631367	Ref too long to show for this DEL	T	CSNK1G1	c.-225+16821_-224-9485del	NM_022048.5	NP_071331.2:p.?	NC_000015.9:g.64602408_64631367del	VUS	1 lab	c887dc9792
4:156252425 MISSING Ref too long to show for this DEL>A	4	156252425	156276968	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.156252426_156276968del	VUS	1 lab	c8897e97eb
19:49464900 MISSING C>Alt too long to show for this DUP	19	49464900	49498536	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.49464903_49498536dup	VUS	1 lab	c8926d3472
6:32032628 TNXB C>G	6	32032628	32032628	C	G	TNXB	c.6811G>C	NM_019105.8	NP_061978.6:p.(Val2271Leu)	NC_000006.11:g.32032628C>G	(Likely) benign	1 lab	c896a66c57
2:21228479 APOB G>A	2	21228479	21228479	G	A	APOB	c.11261C>T	NM_000384.3	NP_000375.3:p.(Thr3754Ile)	NC_000002.11:g.21228479G>A	VUS	1 lab	c89912aef8
15:66679691 MAP2K1 C>T	15	66679691	66679691	C	T	MAP2K1	c.6C>T	NM_002755.4	NP_002746.1:p.(Pro2=)	NC_000015.9:g.66679691C>T	(Likely) benign	1 lab	c8992f784c
13:77566414 CLN5 C>T	13	77566414	77566414	C	T	CLN5	c.173+8C>T	NM_001366624.2	NP_001353553.1:p.?	NC_000013.10:g.77566414C>T	(Likely) benign	1 lab	c89cccfdfb
11:47373006 MYBPC3 G>A	11	47373006	47373006	G	A	MYBPC3	c.76C>T	NM_000256.3	NP_000247.2:p.(Pro26Ser)	NC_000011.9:g.47373006G>A	VUS	1 lab	ca1abf7f0c
2:189872937 COL3A1 A>G	2	189872937	189872937	A	G	COL3A1	c.3525+69A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872937A>G	(Likely) benign	1 lab	c89ff1b022
6:7577797 DSP G>A	6	7577797	7577797	G	A	DSP	c.2878-215G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577797G>A	(Likely) benign	1 lab	c8a7a30736
20:57597971 TUBB1 G>C	20	57597971	57597971	G	C	TUBB1	c.129G>C	NM_030773.4	NP_110400.1:p.(Gln43His)	NC_000020.10:g.57597971G>C	(Likely) benign	1 lab	c8aae987bd
19:15349764 BRD4 C>G	19	15349764	15349764	C	G	BRD4	c.3810G>C	NM_001379291.1	NP_001366220.1:p.(Glu1270Asp)	NC_000019.9:g.15349764C>G	(Likely) benign	1 lab	c8ab937aa5
12:38714787 ALG10B G>T	12	38714787	38714787	G	T	ALG10B	c.1194G>T	NM_001013620.4	NP_001013642.2:p.(Met398Ile)	NC_000012.11:g.38714787G>T	VUS	1 lab	c8ae54bdae
10:90699343 ACTA2 C>T	10	90699343	90699343	C	T	ACTA2	c.729G>A	NM_001141945.2	NP_001135417.1:p.(Glu243=)	NC_000010.10:g.90699343C>T	(Likely) benign	1 lab	c8b0dcb97a
14:50101511 DNAAF2 C>T	14	50101511	50101511	C	T	DNAAF2	c.357G>A	NM_018139.3	NP_060609.2:p.(Trp119Ter)	NC_000014.8:g.50101511C>T	(Likely) pathogenic	1 lab	c8b0fa05f5
1:94497337 ABCA4 C>T	1	94497337	94497337	C	T	ABCA4	c.4125G>A	NM_000350.3	NP_000341.2:p.(Ala1375=)	NC_000001.10:g.94497337C>T	(Likely) benign	1 lab	c8b20d4680
9:107621188 ABCA1 C>A	9	107621188	107621188	C	A	ABCA1	c.544-209G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107621188C>A	(Likely) benign	1 lab	c8b2f7c201
6:146720826 GRM1 GGAA>G	6	146720826	146720829	GGAA	G	GRM1	c.2652_2654del	NM_001278065.2	NP_001264994.1:p.(Asn885del)	NC_000006.11:g.146720827_146720829del	VUS	1 lab	c8b32bbe0d
9:137619451 COL5A1 A>G	9	137619451	137619451	A	G	COL5A1	c.786+208A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137619451A>G	(Likely) benign	1 lab	c8b36b6ce4
17:44634881 ARL17A G>A	17	44634881	44634881	G	A	ARL17A	c.375C>T	NM_001113738.2	NP_001107210.1:p.(Leu125=)	NC_000017.10:g.44634881G>A	(Likely) benign	1 lab	c8b82a8ca7
11:64083320 ESRRA T>C	11	64083320	64083320	T	C	ESRRA	c.1154T>C	NM_004451.5	NP_004442.3:p.(Leu385Pro)	NC_000011.9:g.64083320T>C	(Likely) benign	1 lab	c8b854dac5
4:114267119 ANK2 A>G	4	114267119	114267119	A	G	ANK2	c.4453A>G	NM_001386174.1	NP_001373103.1:p.(Arg1485Gly)	NC_000004.11:g.114267119A>G	VUS	1 lab	c8ba5e5b3b
9:137693679 COL5A1 G>A	9	137693679	137693679	G	A	COL5A1	c.2953-121G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137693679G>A	(Likely) benign	1 lab	c8ba98b0ef
11:2683234 KCNQ1 CATGAG>C	11	2683234	2683240	CATGAG	C	KCNQ1	c.1439_1443del	NM_000218.3	NP_000209.2:p.(Met480AsnfsTer34)	NC_000011.9:g.2683236_2683240del	(Likely) benign	1 lab	c8bb739065
10:25273311 ENKUR G>GAA	10	25273311	25273327	G	GAA	ENKUR	c.765-8_765-7dup	NM_145010.4	NP_659447.1:p.?	NC_000010.10:g.25273326_25273327dup	(Likely) benign	1 lab	c8bc0bec4e
2:48026851 MSH6 C>A	2	48026851	48026851	C	A	MSH6	c.1729C>A	NM_000179.3	NP_000170.1:p.(Arg577Ser)	NC_000002.11:g.48026851C>A	VUS	1 lab	c8c0a5138a
5:148384455 SH3TC2 T>A	5	148384455	148384455	T	A	SH3TC2	c.3686A>T	NM_024577.4	NP_078853.2:p.(Asp1229Val)	NC_000005.9:g.148384455T>A	(Likely) benign	1 lab	c8c508d210
1:3301758 PRDM16 A>G	1	3301758	3301758	A	G	PRDM16	c.481A>G	NM_022114.4	NP_071397.3:p.(Asn161Asp)	NC_000001.10:g.3301758A>G	(Likely) benign	1 lab	c8c745092c
7:91631656 AKAP9 A>G	7	91631656	91631656	A	G	AKAP9	c.2425A>G	NM_005751.5	NP_005742.4:p.(Ile809Val)	NC_000007.13:g.91631656A>G	(Likely) benign	1 lab	c8c8419541
15:85410419 ALPK3 T>C	15	85410419	85410419	T	C	ALPK3	c.4724-129T>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410419T>C	(Likely) benign	1 lab	c8c867a977
2:99013551 CNGA3 C>T	2	99013551	99013551	C	T	CNGA3	c.1918C>T	NM_001298.3	NP_001289.1:p.(Leu640=)	NC_000002.11:g.99013551C>T	(Likely) benign	1 lab	c8ca017918
17:14087932 MISSING Ref too long to show for this DEL>T	17	14087932	15491534	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14087935_15491534del	(Likely) pathogenic	1 lab	c8cf8ef167
12:111348939 MYL2 C>T	12	111348939	111348939	C	T	MYL2	c.443G>A	NM_000432.4	NP_000423.2:p.(Gly148Asp)	NC_000012.11:g.111348939C>T	VUS	1 lab	c8d01777c0
14:81609750 TSHR C>T	14	81609750	81609750	C	T	TSHR	c.1348C>T	NM_000369.5	NP_000360.2:p.(Arg450Cys)	NC_000014.8:g.81609750C>T	(Likely) pathogenic	1 lab	c8d2f5c319
16:23614968 PALB2 C>A	16	23614968	23614968	C	A	PALB2	c.3373G>T	NM_024675.4	NP_078951.2:p.(Asp1125Tyr)	NC_000016.9:g.23614968C>A	VUS	1 lab	c8da13dc97
2:136594710 LCT A>G	2	136594710	136594710	A	G	LCT	c.30T>C	NM_002299.4	NP_002290.2:p.(Ile10=)	NC_000002.11:g.136594710A>G	(Likely) benign	1 lab	c8dbe1af2b
12:7188427 C1R G>A	12	7188427	7188427	G	A	C1R	c.1527C>T	NM_001733.7	NP_001724.4:p.(His509=)	NC_000012.11:g.7188427G>A	(Likely) benign	1 lab	c8dcf93a56
1:246606696 MISSING A>Alt too long to show for this DUP	1	246606696	246890227	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.246606697_246890227dup	VUS	1 lab	c8ded4d9ef
17:39274426 KRTAP4-11 T>A	17	39274426	39274426	T	A	KRTAP4-11	c.142A>T	NM_033059.4	NP_149048.2:p.(Ser48Cys)	NC_000017.10:g.39274426T>A	(Likely) benign	1 lab	c8df94e852
17:9066254 NTN1 T>C	17	9066254	9066254	T	C	NTN1	c.1143T>C	NM_004822.3	NP_004813.2:p.(His381=)	NC_000017.10:g.9066254T>C	(Likely) benign	1 lab	c8e105f185
1:43213863 P3H1 G>A	1	43213863	43213863	G	A	P3H1	c.1838+8C>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43213863G>A	(Likely) benign	1 lab	c8e226d1ff
16:920028 LMF1 G>A	16	920028	920028	G	A	LMF1	c.872C>T	NM_001352018.2	NP_001338947.1:p.(Thr291Ile)	NC_000016.9:g.920028G>A	VUS	1 lab	c8e67c6133
2:21234929 APOB G>C	2	21234929	21234929	G	C	APOB	c.4811C>G	NM_000384.3	NP_000375.3:p.(Ala1604Gly)	NC_000002.11:g.21234929G>C	VUS	1 lab	c8e99b3a75
5:127623047 FBN2 G>A	5	127623047	127623047	G	A	FBN2	c.6833C>T	NM_001999.4	NP_001990.2:p.(Thr2278Met)	NC_000005.9:g.127623047G>A	VUS	1 lab	c8ea95a93d
6:7568594 DSP A>G	6	7568594	7568594	A	G	DSP	c.1267-76A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568594A>G	(Likely) benign	1 lab	c8ed71ecfd
X:70442962 GJB1 T>A	X	70442962	70442962	T	A	GJB1	c.-16-580T>A	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442962T>A	VUS	1 lab	c8f0e26609
16:984003 LMF1 G>C	16	984003	984003	G	C	LMF1	c.103C>G	NM_001352018.2	NP_001338947.1:p.(Arg35Gly)	NC_000016.9:g.984003G>C	(Likely) benign	1 lab	c8f1342042
8:144997927 PLEC G>A	8	144997927	144997927	G	A	PLEC	c.6581C>T	NM_201380.4	NP_958782.1:p.(Ala2194Val)	NC_000008.10:g.144997927G>A	(Likely) benign	1 lab	c8f143373e
8:22059457 BMP1 CA>C	8	22059457	22059458	CA	C	BMP1	c.2233+17del	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22059458del	(Likely) benign	1 lab	c8f1869153
10:124221583 HTRA1 T>G	10	124221583	124221583	T	G	HTRA1	c.415T>G	NM_002775.5	NP_002766.1:p.(Ser139Ala)	NC_000010.10:g.124221583T>G	(Likely) benign	1 lab	c8f2faf95c
16:15831705 MYH11 A>C	16	15831705	15831705	A	C	MYH11	c.3143-228T>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15831705A>C	(Likely) benign	1 lab	c8f34b9e21
22:20719111 MISSING C>Alt too long to show for this DUP	22	20719111	21505418	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20719113_21505418dup	(Likely) pathogenic	1 lab	c8f6b54b95
1:228345746 GJC2 G>T	1	228345746	228345746	G	T	GJC2	c.287G>T	NM_020435.4	NP_065168.2:p.(Gly96Val)	NC_000001.10:g.228345746G>T	VUS	1 lab	c8f91d679c
17:41245122 BRCA1 T>C	17	41245122	41245122	T	C	BRCA1	c.2426A>G	NM_007294.4	NP_009225.1:p.(Glu809Gly)	NC_000017.10:g.41245122T>C	(Likely) benign	1 lab	c8f945cbcf
2:44051159 ABCG5 C>T	2	44051159	44051159	C	T	ABCG5	c.1217G>A	NM_022436.3	NP_071881.1:p.(Arg406Gln)	NC_000002.11:g.44051159C>T	VUS	1 lab	c8fd1674e3
17:10551982 MYH3 G>A	17	10551982	10551982	G	A	MYH3	c.643-16C>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10551982G>A	(Likely) benign	1 lab	c8ff5f17b9
14:102473370 DYNC1H1 G>T	14	102473370	102473370	G	T	DYNC1H1	c.5742G>T	NM_001376.5	NP_001367.2:p.(Glu1914Asp)	NC_000014.8:g.102473370G>T	VUS	1 lab	c8ff9ad49b
2:227662683 IRS1 G>T	2	227662683	227662683	G	T	IRS1	c.772C>A	NM_005544.3	NP_005535.1:p.(Arg258=)	NC_000002.11:g.227662683G>T	(Likely) benign	1 lab	c90170d962
3:71101750 FOXP1 G>GT	3	71101750	71101756	G	GT	FOXP1	c.447dup	NM_001349338.3	NP_001336267.1:p.(Gln150ThrfsTer20)	NC_000003.11:g.71101756dup	(Likely) pathogenic	1 lab	c90190c2c8
21:43171259 RIPK4 G>C	21	43171259	43171259	G	C	RIPK4	c.621C>G	NM_020639.3	NP_065690.2:p.(Tyr207Ter)	NC_000021.8:g.43171259G>C	(Likely) pathogenic	1 lab	c90482fa34
12:33022214 PKP2 C>T	12	33022214	33022214	C	T	PKP2	c.1035-218G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33022214C>T	(Likely) benign	1 lab	c905344336
16:69771851 MISSING G>Alt too long to show for this DUP	16	69771851	69988373	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.69771852_69988373dup	VUS	1 lab	c905ca9757
21:15317272 MISSING G>Alt too long to show for this DUP	21	15317272	15695756	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.15317273_15695756dup	VUS	1 lab	c90ac07988
16:70305871 AARS1 C>G	16	70305871	70305871	C	G	AARS1	c.484G>C	NM_001605.3	NP_001596.2:p.(Asp162His)	NC_000016.9:g.70305871C>G	VUS	1 lab	c90af81965
10:88451756 LDB3 C>T	10	88451756	88451756	C	T	LDB3	c.997C>T	NM_001171610.2	NP_001165081.1:p.(Arg333Cys)	NC_000010.10:g.88451756C>T	VUS	1 lab	c90f090f0c
6:56347535 DST G>A	6	56347535	56347535	G	A	DST	c.14991C>T	NM_001144769.5	NP_001138241.1:p.(Thr4997=)	NC_000006.11:g.56347535G>A	(Likely) benign	1 lab	c90fe7c6b9
10:13154487 OPTN A>C	10	13154487	13154487	A	C	OPTN	c.404A>C	NM_001008211.1	NP_001008212.1:p.(Glu135Ala)	NC_000010.10:g.13154487A>C	(Likely) benign	1 lab	c911da7e3d
16:57016150 CETP G>A	16	57016150	57016150	G	A	CETP	c.1321+1G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57016150G>A	VUS	1 lab	c911e93bea
18:56940142 RAX G>C	18	56940142	56940142	G	C	RAX	c.289+8C>G	NM_013435.3	NP_038463.2:p.?	NC_000018.9:g.56940142G>C	(Likely) benign	1 lab	c915096870
5:33944917 SLC45A2 C>T	5	33944917	33944917	C	T	SLC45A2	c.1429G>A	NM_016180.5	NP_057264.4:p.(Ala477Thr)	NC_000005.9:g.33944917C>T	(Likely) pathogenic	1 lab	c91b7d9c6a
1:94578602 ABCA4 G>A	1	94578602	94578602	G	A	ABCA4	c.87C>T	NM_000350.3	NP_000341.2:p.(Leu29=)	NC_000001.10:g.94578602G>A	(Likely) benign	1 lab	c91bab8b8e
10:91005952 LIPA G>A	10	91005952	91005952	G	A	LIPA	c.112-402C>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005952G>A	(Likely) benign	1 lab	c91c207a85
16:77327114 ADAMTS18 G>C	16	77327114	77327114	G	C	ADAMTS18	c.2532C>G	NM_001326358.2	NP_001313287.1:p.(Leu844=)	NC_000016.9:g.77327114G>C	(Likely) benign	1 lab	c91e7179dd
11:8118230 TUB A>G	11	8118230	8118230	A	G	TUB	c.731-2A>G	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8118230A>G	VUS	1 lab	c921583193
6:32035694 TNXB C>T	6	32035694	32035694	C	T	TNXB	c.6288G>A	NM_019105.8	NP_061978.6:p.(Pro2096=)	NC_000006.11:g.32035694C>T	(Likely) benign	1 lab	c922525994
17:44061123 MAPT C>T	17	44061123	44061123	C	T	MAPT	c.953C>T	NM_001123066.4	NP_001116538.2:p.(Ser318Leu)	NC_000017.10:g.44061123C>T	(Likely) benign	1 lab	c92445b253
7:150644914 KCNH2 TGCCCCCGCCCGGCCCG>T	7	150644914	150644935	TGCCCCCGCCCGGCCCG	T	KCNH2	c.2729_2744del	NM_000238.4	NP_000229.1:p.(Pro910GlnfsTer59)	NC_000007.13:g.150644920_150644935del	(Likely) pathogenic	1 lab	c9265eb0ac
7:33303905 BBS9 C>T	7	33303905	33303905	C	T	BBS9	c.621C>T	NM_198428.3	NP_940820.1:p.(Tyr207=)	NC_000007.13:g.33303905C>T	(Likely) benign	1 lab	c926cbadfd
2:179459148 TTN C>T	2	179459148	179459148	C	T	TTN	c.58073G>A	NM_001267550.2	NP_001254479.2:p.(Arg19358His)	NC_000002.11:g.179459148C>T	VUS	1 lab	c92742421b
7:91726135 AKAP9 T>G	7	91726135	91726135	T	G	AKAP9	c.9862T>G	NM_005751.5	NP_005742.4:p.(Leu3288Val)	NC_000007.13:g.91726135T>G	(Likely) benign	1 lab	c92b9c2ee4
16:70917842 HYDIN T>A	16	70917842	70917842	T	A	HYDIN	c.9960A>T	NM_001270974.2	NP_001257903.1:p.(Leu3320=)	NC_000016.9:g.70917842T>A	(Likely) benign	1 lab	c931df4edc
22:18893959 DGCR6 G>C	22	18893959	18893959	G	C	DGCR6	c.72G>C	NM_005675.6	NP_005666.2:p.(Leu24=)	NC_000022.10:g.18893959G>C	(Likely) benign	1 lab	c932b4df17
3:155942487 KCNAB1 Ref too long to show for this DEL>A	3	155942487	156053129	Ref too long to show for this DEL	A	KCNAB1	c.275+103813_276-86276del	NM_172160.3	NP_751892.1:p.?	NC_000003.11:g.155942488_156053129del	VUS	1 lab	c93352c819
4:100485524 MTTP A>G	4	100485524	100485524	A	G	MTTP	c.-102+130A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100485524A>G	(Likely) benign	1 lab	c935a022ef
2:179404361 TTN G>A	2	179404361	179404361	G	A	TTN	c.98431C>T	NM_001267550.2	NP_001254479.2:p.(Arg32811Cys)	NC_000002.11:g.179404361G>A	VUS	1 lab	c938b35fe5
2:47635714 MSH2 A>T	2	47635714	47635714	A	T	MSH2	c.366+20A>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635714A>T	(Likely) benign	1 lab	c9393b3fe2
8:75276370 GDAP1 G>A	8	75276370	75276370	G	A	GDAP1	c.845G>A	NM_018972.4	NP_061845.2:p.(Arg282His)	NC_000008.10:g.75276370G>A	(Likely) pathogenic	1 lab	c9393e8622
2:179480163 TTN T>G	2	179480163	179480163	T	G	TTN	c.48509A>C	NM_001267550.2	NP_001254479.2:p.(Asn16170Thr)	NC_000002.11:g.179480163T>G	VUS	1 lab	c939dc0bef
14:23871908 MYH6 C>T	14	23871908	23871908	C	T	MYH6	c.1000G>A	NM_002471.4	NP_002462.2:p.(Asp334Asn)	NC_000014.8:g.23871908C>T	VUS	1 lab	c93a1ea182
17:37822175 TCAP G>A	17	37822175	37822175	G	A	TCAP	c.317G>A	NM_003673.4	NP_003664.1:p.(Arg106His)	NC_000017.10:g.37822175G>A	VUS	1 lab	c93a9b3390
11:118802978 MISSING T>Alt too long to show for this DUP	11	118802978	119013445	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.118802980_119013445dup	VUS	1 lab	c93dfe5391
1:46156596 MISSING A>Alt too long to show for this DUP	1	46156596	46494288	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.46156597_46494288dup	VUS	1 lab	c93e341ad9
7:128481185 FLNC C>G	7	128481185	128481185	C	G	FLNC	c.1814-39C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481185C>G	(Likely) benign	1 lab	c93e901860
2:234229451 SAG G>A	2	234229451	234229451	G	A	SAG	c.357G>A	NM_000541.5	NP_000532.2:p.(Thr119=)	NC_000002.11:g.234229451G>A	(Likely) benign	1 lab	c93f35c944
X:1325482 MISSING Ref too long to show for this DEL>C	X	1325482	1417696	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.1325483_1417696del	VUS	1 lab	c943c884c9
5:94355559 MISSING Ref too long to show for this DEL>G	5	94355559	98026863	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.94355560_98026863del	VUS	1 lab	c94979edd0
13:32932089 BRCA2 G>A	13	32932089	32932089	G	A	BRCA2	c.7805+23G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32932089G>A	(Likely) benign	1 lab	c94a16911a
7:152357877 XRCC2 G>A	7	152357877	152357877	G	A	XRCC2	c.40-10C>T	NM_005431.2	NP_005422.1:p.?	NC_000007.13:g.152357877G>A	(Likely) benign	1 lab	c94a2cbf1e
X:528509 MISSING C>Alt too long to show for this DUP	X	528509	824718	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.528512_824718dup	VUS	1 lab	c94e95dccf
2:96951069 SNRNP200 G>A	2	96951069	96951069	G	A	SNRNP200	c.4013C>T	NM_014014.5	NP_054733.2:p.(Thr1338Ile)	NC_000002.11:g.96951069G>A	VUS	1 lab	c9501cfcc7
8:19805815 LPL C>G	8	19805815	19805815	C	G	LPL	c.213C>G	NM_000237.3	NP_000228.1:p.(His71Gln)	NC_000008.10:g.19805815C>G	VUS	1 lab	c95297bcfe
11:4531793 MISSING Ref too long to show for this DEL>G	11	4531793	4718011	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.4531795_4718011del	VUS	1 lab	c955a0afd6
7:107605186 LAMB1 C>T	7	107605186	107605186	C	T	LAMB1	c.1563-54G>A	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107605186C>T	VUS	1 lab	c956de99b3
4:55955112 KDR C>T	4	55955112	55955112	C	T	KDR	c.3433G>A	NM_002253.3	NP_002244.1:p.(Gly1145Arg)	NC_000004.11:g.55955112C>T	(Likely) benign	1 lab	c959633aed
9:135202568 SETX G>A	9	135202568	135202568	G	A	SETX	c.4417C>T	NM_015046.7	NP_055861.3:p.(Arg1473Cys)	NC_000009.11:g.135202568G>A	(Likely) benign	1 lab	c959ec643d
X:115303813 AGTR2 T>C	X	115303813	115303813	T	C	AGTR2	c.280T>C	NM_000686.5	NP_000677.2:p.(Leu94=)	NC_000023.10:g.115303813T>C	(Likely) benign	1 lab	c95e57fdfd
6:119226968 MCM9 C>T	6	119226968	119226968	C	T	MCM9	c.1150+5847G>A	NM_017696.3	NP_060166.2:p.?	NC_000006.11:g.119226968C>T	(Likely) benign	1 lab	c95e9be3f1
3:9475617 SETD5 C>T	3	9475617	9475617	C	T	SETD5	c.160C>T	NM_001080517.3	NP_001073986.1:p.(Arg54Ter)	NC_000003.11:g.9475617C>T	(Likely) pathogenic	1 lab	c95f4c9476
2:179458987 TTN A>G	2	179458987	179458987	A	G	TTN	c.58151-18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458987A>G	(Likely) benign	1 lab	c95f54c5a9
4:146436150 SMAD1 A>C	4	146436150	146436150	A	C	SMAD1	c.385A>C	NM_005900.3	NP_005891.1:p.(Arg129=)	NC_000004.11:g.146436150A>C	(Likely) benign	1 lab	c96180ac1b
6:112463411 LAMA4 C>T	6	112463411	112463411	C	T	LAMA4	c.2577G>A	NM_001105206.3	NP_001098676.2:p.(Thr859=)	NC_000006.11:g.112463411C>T	(Likely) benign	1 lab	c9627353c0
12:2016739 CACNA2D4 T>C	12	2016739	2016739	T	C	CACNA2D4	c.650-2A>G	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.2016739T>C	VUS	1 lab	c96362431a
2:179592501 TTN G>A	2	179592501	179592501	G	A	TTN	c.19804C>T	NM_001267550.2	NP_001254479.2:p.(Pro6602Ser)	NC_000002.11:g.179592501G>A	VUS	1 lab	c96ae3b1c6
X:70443868 GJB1 A>C	X	70443868	70443868	A	C	GJB1	c.311A>C	NM_000166.6	NP_000157.1:p.(Lys104Thr)	NC_000023.10:g.70443868A>C	(Likely) pathogenic	1 lab	c96b30b95a
17:18205669 TOP3A G>GT	17	18205669	18205670	G	GT	TOP3A	c.722dup	NM_004618.5	NP_004609.1:p.(Tyr241Ter)	NC_000017.10:g.18205670dup	(Likely) pathogenic	1 lab	c96e875da0
12:58746988 MISSING Ref too long to show for this DEL>G	12	58746988	60103915	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.58746989_60103915del	(Likely) pathogenic	1 lab	c976021cf0
5:178410090 GRM6 C>T	5	178410090	178410090	C	T	GRM6	c.2257G>A	NM_000843.4	NP_000834.2:p.(Gly753Ser)	NC_000005.9:g.178410090C>T	(Likely) benign	1 lab	c9769296ae
9:107607829 ABCA1 G>C	9	107607829	107607829	G	C	ABCA1	c.742C>G	NM_005502.4	NP_005493.2:p.(Pro248Ala)	NC_000009.11:g.107607829G>C	(Likely) benign	1 lab	c979cd8a0a
16:88504853 ZNF469 G>A	16	88504853	88504853	G	A	ZNF469	c.10975G>A	NM_001367624.2	NP_001354553.1:p.(Gly3659Arg)	NC_000016.9:g.88504853G>A	(Likely) benign	1 lab	c97a531bc6
8:144297028 GPIHBP1 C>T	8	144297028	144297028	C	T	GPIHBP1	c.295+27C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297028C>T	(Likely) benign	1 lab	c97aa29400
X:100601543 TIMM8A G>C	X	100601543	100601543	G	C	TIMM8A	c.238C>G	NM_004085.4	NP_004076.1:p.(Arg80Gly)	NC_000023.10:g.100601543G>C	VUS	1 lab	c97c8d6895
11:116661667 APOA5 C>T	11	116661667	116661667	C	T	APOA5	c.278G>A	NM_052968.5	NP_443200.2:p.(Arg93Gln)	NC_000011.9:g.116661667C>T	VUS	1 lab	c97cb7fdcd
11:47362759 MYBPC3 G>A	11	47362759	47362759	G	A	MYBPC3	c.1827C>T	NM_000256.3	NP_000247.2:p.(Ala609=)	NC_000011.9:g.47362759G>A	(Likely) benign	1 lab	c97f0a3106
2:157181671 MISSING Ref too long to show for this DEL>T	2	157181671	163438136	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.157181672_163438136del	(Likely) pathogenic	1 lab	c980fc1f35
12:922913 WNK1 T>C	12	922913	922913	T	C	WNK1	c.865T>C	NM_001184985.2	NP_001171914.1:p.(Ser289Pro)	NC_000012.11:g.922913T>C	VUS	1 lab	c9831c2ad1
15:67459038 SMAD3 G>A	15	67459038	67459038	G	A	SMAD3	c.533-79G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67459038G>A	(Likely) benign	1 lab	c986492873
15:72021045 THSD4 C>T	15	72021045	72021045	C	T	THSD4	c.1515C>T	NM_024817.2	NP_079093.2:p.(Asn505=)	NC_000015.9:g.72021045C>T	(Likely) benign	1 lab	c98689865a
4:100542572 MTTP C>CA	4	100542572	100542581	C	CA	MTTP	c.2513+193dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542581dup	(Likely) benign	1 lab	c98aab7b93
4:123178450 BLTP1 T>G	4	123178450	123178450	T	G	BLTP1	c.6419T>G	NM_015312.4	NP_056127.2:p.(Leu2140Ter)	NC_000004.11:g.123178450T>G	(Likely) pathogenic	1 lab	c98d2d693e
19:11224454 LDLR G>A	19	11224454	11224454	G	A	LDLR	c.1586+16G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224454G>A	(Likely) benign	1 lab	c98d87e293
6:112510425 LAMA4 A>G	6	112510425	112510425	A	G	LAMA4	c.719-18T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112510425A>G	(Likely) benign	1 lab	c98effe022
7:100853973 PLOD3 C>T	7	100853973	100853973	C	T	PLOD3	c.1359-19G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853973C>T	(Likely) benign	1 lab	c9919e07b2
X:117875004 MISSING Ref too long to show for this DEL>T	X	117875004	118390872	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.117875006_118390872del	VUS	1 lab	c993141785
6:32010818 TNXB G>A	6	32010818	32010818	G	A	TNXB	c.11829C>T	NM_019105.8	NP_061978.6:p.(Thr3943=)	NC_000006.11:g.32010818G>A	(Likely) benign	1 lab	c9943908ac
4:100540099 MTTP T>G	4	100540099	100540099	T	G	MTTP	c.2218-32T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100540099T>G	(Likely) benign	1 lab	c994b9d56e
11:116661491 APOA5 G>A	11	116661491	116661491	G	A	APOA5	c.454C>T	NM_001371904.1	NP_001358833.1:p.(Arg152Cys)	NC_000011.9:g.116661491G>A	VUS	1 lab	c99837ec37
16:46773999 MYLK3 C>A	16	46773999	46773999	C	A	MYLK3	c.538G>T	NM_182493.3	NP_872299.2:p.(Val180Leu)	NC_000016.9:g.46773999C>A	(Likely) benign	1 lab	c998729d49
3:38770187 SCN10A C>T	3	38770187	38770187	C	T	SCN10A	c.2486G>A	NM_006514.4	NP_006505.4:p.(Arg829His)	NC_000003.11:g.38770187C>T	VUS	1 lab	c99b82eb65
6:150501557 PPP1R14C Ref too long to show for this DEL>A	6	150501557	150511513	Ref too long to show for this DEL	A	PPP1R14C	c.307-34322_307-24367del	NM_030949.3	NP_112211.1:p.?	NC_000006.11:g.150501558_150511513del	VUS	1 lab	c99bfd8241
2:21236150 APOB C>T	2	21236150	21236150	C	T	APOB	c.4098G>A	NM_000384.3	NP_000375.3:p.(Leu1366=)	NC_000002.11:g.21236150C>T	(Likely) benign	1 lab	c9a0f68df3
17:41244918 BRCA1 T>C	17	41244918	41244918	T	C	BRCA1	c.2630A>G	NM_007294.4	NP_009225.1:p.(Asn877Ser)	NC_000017.10:g.41244918T>C	(Likely) benign	1 lab	c9a13ac67c
16:920841 LMF1 G>A	16	920841	920841	G	A	LMF1	c.1120C>T	NM_022773.4	NP_073610.2:p.(Leu374=)	NC_000016.9:g.920841G>A	(Likely) benign	1 lab	c9a2eb230b
6:7569533 DSP A>G	6	7569533	7569533	A	G	DSP	c.1534A>G	NM_004415.4	NP_004406.2:p.(Ile512Val)	NC_000006.11:g.7569533A>G	VUS	1 lab	c9a6ea9715
13:48833027 ITM2B A>G	13	48833027	48833027	A	G	ITM2B	c.659A>G	NM_021999.5	NP_068839.1:p.(Tyr220Cys)	NC_000013.10:g.48833027A>G	(Likely) benign	1 lab	c9a79f38fe
11:116701999 APOC3 C>T	11	116701999	116701999	C	T	APOC3	c.179+387C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701999C>T	(Likely) benign	1 lab	c9ad2fd995
12:118020174 KSR2 G>A	12	118020174	118020174	G	A	KSR2	c.1172-10C>T	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.118020174G>A	(Likely) benign	1 lab	c9ad31c0a1
9:396835 DOCK8 T>C	9	396835	396835	T	C	DOCK8	c.3021T>C	NM_203447.4	NP_982272.2:p.(Phe1007=)	NC_000009.11:g.396835T>C	(Likely) benign	1 lab	c9ae7b74d4
7:117188660 CFTR A>ATGTG	7	117188660	117188683	A	ATGTG	CFTR	c.1210-15_1210-12dup	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117188680_117188683dup	(Likely) benign	1 lab	c9b0c2c5ae
17:70117796 SOX9 GGTGCCCATGCCGGTGCGC>G	17	70117796	70117816	GGTGCCCATGCCGGTGCGC	G	SOX9	c.267_284del	NM_000346.4	NP_000337.1:p.(Pro90_Val95del)	NC_000017.10:g.70117799_70117816del	(Likely) pathogenic	1 lab	c9b35b6808
20:57429484 GNAS G>A	20	57429484	57429484	G	A	GNAS	c.977G>A	NM_001077490.3	NP_001070958.1:p.(Arg326Gln)	NC_000020.10:g.57429484G>A	(Likely) benign	1 lab	c9b4a03ac2
X:53458983 HSD17B10 G>A	X	53458983	53458983	G	A	HSD17B10	c.439C>T	NM_004493.3	NP_004484.1:p.(Arg147Cys)	NC_000023.10:g.53458983G>A	(Likely) pathogenic	1 lab	c9bbd977ec
4:15522108 CC2D2A Ref too long to show for this DEL>G	4	15522108	15569798	Ref too long to show for this DEL	G	CC2D2A	c.1149+3731_3398+389del	NM_001378615.1	NP_001365544.1:p.?	NC_000004.11:g.15522110_15569798del	VUS	1 lab	c9bd6e8c91
11:46725893 ZNF408 T>G	11	46725893	46725893	T	G	ZNF408	c.653-10T>G	NM_024741.3	NP_079017.1:p.?	NC_000011.9:g.46725893T>G	(Likely) benign	1 lab	c9bddaaf28
17:7803913 CHD3 T>C	17	7803913	7803913	T	C	CHD3	c.3019T>C	NM_001005271.3	NP_001005271.2:p.(Ser1007Pro)	NC_000017.10:g.7803913T>C	(Likely) pathogenic	1 lab	c9beccb5f2
15:23891522 MAGEL2 GGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACC>G	15	23891522	23891583	GGGTGGGGCCTGGCGGATCACGGGTGGGGCCTGGCGGATCACC	G	MAGEL2	c.1326_1367del	NM_019066.5	NP_061939.3:p.(Pro449_Pro462del)	NC_000015.9:g.23891542_23891583del	(Likely) benign	1 lab	c9c10c7de1
2:21227340 APOB C>G	2	21227340	21227340	C	G	APOB	c.11904-16G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227340C>G	(Likely) benign	1 lab	c9c28726e6
12:33031341 PKP2 C>T	12	33031341	33031341	C	T	PKP2	c.473G>A	NM_004572.4	NP_004563.2:p.(Arg158Lys)	NC_000012.11:g.33031341C>T	VUS	1 lab	c9c30c4cbe
3:38596254 SCN5A G>A	3	38596254	38596254	G	A	SCN5A	c.4540-214C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38596254G>A	(Likely) benign	1 lab	c9c3a71722
12:130926649 RIMBP2 C>T	12	130926649	130926649	C	T	RIMBP2	c.1197G>A	NM_015347.5	NP_056162.4:p.(Val399=)	NC_000012.11:g.130926649C>T	(Likely) benign	1 lab	c9c3d1ffb0
1:25881448 LDLRAP1 A>G	1	25881448	25881448	A	G	LDLRAP1	c.329A>G	NM_015627.3	NP_056442.2:p.(Asn110Ser)	NC_000001.10:g.25881448A>G	(Likely) pathogenic	1 lab	c9c887f500
5:127647819 FBN2 T>C	5	127647819	127647819	T	C	FBN2	c.4880-174A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127647819T>C	(Likely) benign	1 lab	c9c92191d8
10:88441539 LDB3 C>T	10	88441539	88441539	C	T	LDB3	c.668C>T	NM_001171610.2	NP_001165081.1:p.(Ser223Leu)	NC_000010.10:g.88441539C>T	VUS	1 lab	c9caa60425
1:222737470 TAF1A G>A	1	222737470	222737470	G	A	TAF1A	c.895-3C>T	NM_001201536.1	NP_001188465.1:p.?	NC_000001.10:g.222737470G>A	(Likely) benign	1 lab	c9cb997769
2:98128150 ANKRD36B G>A	2	98128150	98128150	G	A	ANKRD36B	c.3171C>T	NM_025190.4	NP_079466.3:p.(His1057=)	NC_000002.11:g.98128150G>A	(Likely) benign	1 lab	c9cc3f3a08
9:137591762 COL5A1 A>G	9	137591762	137591762	A	G	COL5A1	c.285A>G	NM_000093.5	NP_000084.3:p.(Ala95=)	NC_000009.11:g.137591762A>G	(Likely) benign	1 lab	c9cd3f7793
2:21227306 APOB C>T	2	21227306	21227306	C	T	APOB	c.11922G>A	NM_000384.3	NP_000375.3:p.(Ala3974=)	NC_000002.11:g.21227306C>T	(Likely) benign	1 lab	c9d1dd6573
19:7624025 PNPLA6 C>T	19	7624025	7624025	C	T	PNPLA6	c.3717C>T	NM_001166111.2	NP_001159583.1:p.(Phe1239=)	NC_000019.9:g.7624025C>T	(Likely) benign	1 lab	c9d30d3a1e
12:968536 WNK1 T>C	12	968536	968536	T	C	WNK1	c.1526T>C	NM_001184985.2	NP_001171914.1:p.(Ile509Thr)	NC_000012.11:g.968536T>C	(Likely) benign	1 lab	c9d6093fbc
6:129714337 LAMA2 A>G	6	129714337	129714337	A	G	LAMA2	c.5382A>G	NM_000426.4	NP_000417.3:p.(Thr1794=)	NC_000006.11:g.129714337A>G	(Likely) benign	1 lab	c9d85b53cc
2:29448410 ALK T>G	2	29448410	29448410	T	G	ALK	c.3089A>C	NM_004304.5	NP_004295.2:p.(His1030Pro)	NC_000002.11:g.29448410T>G	(Likely) benign	1 lab	c9da580fdb
9:79922845 VPS13A C>CT	9	79922845	79922855	C	CT	VPS13A	c.3844-6dup	NM_001018037.2	NP_001018047.1:p.?	NC_000009.11:g.79922855dup	(Likely) benign	1 lab	c9da6b446f
12:42512967 GXYLT1 A>T	12	42512967	42512967	A	T	GXYLT1	c.321T>A	NM_173601.2	NP_775872.1:p.(Ser107Arg)	NC_000012.11:g.42512967A>T	(Likely) benign	1 lab	c9dab4e695
2:21236413 APOB G>A	2	21236413	21236413	G	A	APOB	c.3843-8C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236413G>A	(Likely) benign	1 lab	c9dbd7ffad
3:145794701 PLOD2 C>T	3	145794701	145794701	C	T	PLOD2	c.1564-19G>A	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145794701C>T	(Likely) benign	1 lab	c9def4d7c5
9:35720023 TLN1 G>C	9	35720023	35720023	G	C	TLN1	c.1464+13C>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35720023G>C	(Likely) benign	1 lab	c9dfeadf23
2:21235993 APOB G>C	2	21235993	21235993	G	C	APOB	c.4216+39C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235993G>C	(Likely) benign	1 lab	c9e09b6b0e
6:32024587 TNXB G>C	6	32024587	32024587	G	C	TNXB	c.7919C>G	NM_019105.8	NP_061978.6:p.(Thr2640Ser)	NC_000006.11:g.32024587G>C	(Likely) benign	1 lab	c9e26c6ee6
1:150531471 ADAMTSL4 C>T	1	150531471	150531471	C	T	ADAMTSL4	c.2593C>T	NM_019032.6	NP_061905.2:p.(Arg865Cys)	NC_000001.10:g.150531471C>T	(Likely) pathogenic	1 lab	c9e4c7d501
8:61654938 CHD7 G>GT	8	61654938	61654939	G	GT	CHD7	c.948dup	NM_017780.4	NP_060250.2:p.(Asn317Ter)	NC_000008.10:g.61654939dup	(Likely) pathogenic	1 lab	c9e772c17f
10:12162235 DHTKD1 C>T	10	12162235	12162235	C	T	DHTKD1	c.2627C>T	NM_018706.7	NP_061176.4:p.(Ser876Phe)	NC_000010.10:g.12162235C>T	VUS	1 lab	c9e7e33edb
18:25727719 CDH2 T>C	18	25727719	25727719	T	C	CDH2	c.90A>G	NM_001792.5	NP_001783.2:p.(Ala30=)	NC_000018.9:g.25727719T>C	(Likely) benign	1 lab	c9ed1906cb
16:88494850 ZNF469 C>T	16	88494850	88494850	C	T	ZNF469	c.972C>T	NM_001367624.2	NP_001354553.1:p.(Tyr324=)	NC_000016.9:g.88494850C>T	(Likely) benign	1 lab	c9efe7f8f8
16:72139053 DHX38 C>T	16	72139053	72139053	C	T	DHX38	c.2262+17C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72139053C>T	(Likely) benign	1 lab	c9f0201ff2
6:16143987 MYLIP G>T	6	16143987	16143987	G	T	MYLIP	c.720G>T	NM_013262.4	NP_037394.2:p.(Thr240=)	NC_000006.11:g.16143987G>T	(Likely) benign	1 lab	c9f7a1463e
3:4726021 ITPR1 G>A	3	4726021	4726021	G	A	ITPR1	c.3483G>A	NM_002222.7	NP_002213.5:p.(Val1161=)	NC_000003.11:g.4726021G>A	(Likely) benign	1 lab	c9f9ac5827
X:47464369 SYN1 Ref too long to show for this DEL>A	X	47464369	47464785	Ref too long to show for this DEL	A	SYN1	c.528-7_774+7del	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47464370_47464785del	(Likely) pathogenic	1 lab	c9fa521002
1:180804199 XPR1 A>T	1	180804199	180804199	A	T	XPR1	c.1306+18A>T	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180804199A>T	(Likely) benign	1 lab	c9ff94c10b
10:121410898 BAG3 A>C	10	121410898	121410898	A	C	BAG3	c.-290A>C	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121410898A>C	(Likely) benign	1 lab	ca03d2c4ac
1:12008274 PLOD1 C>T	1	12008274	12008274	C	T	PLOD1	c.168+150C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12008274C>T	(Likely) benign	1 lab	ca04b58d09
2:219677375 CYP27A1 G>A	2	219677375	219677375	G	A	CYP27A1	c.747G>A	NM_000784.4	NP_000775.1:p.(Gln249=)	NC_000002.11:g.219677375G>A	(Likely) benign	1 lab	ca089f576a
1:23346404 KDM1A G>A	1	23346404	23346404	G	A	KDM1A	c.315G>A	NM_001009999.3	NP_001009999.1:p.(Pro105=)	NC_000001.10:g.23346404G>A	(Likely) benign	1 lab	ca0c1bcac2
2:21229567 APOB C>T	2	21229567	21229567	C	T	APOB	c.10173G>A	NM_000384.3	NP_000375.3:p.(Arg3391=)	NC_000002.11:g.21229567C>T	(Likely) benign	1 lab	ca0f80107b
14:102478678 DYNC1H1 G>T	14	102478678	102478678	G	T	DYNC1H1	c.6885G>T	NM_001376.5	NP_001367.2:p.(Leu2295=)	NC_000014.8:g.102478678G>T	(Likely) benign	1 lab	ca137c0dd7
6:7572203 DSP CAGAT>C	6	7572203	7572210	CAGAT	C	DSP	c.2036_2039del	NM_004415.4	NP_004406.2:p.(Ile679SerfsTer7)	NC_000006.11:g.7572207_7572210del	(Likely) pathogenic	1 lab	ca17ea90af
22:41924037 ACO2 C>T	22	41924037	41924037	C	T	ACO2	c.2208+11C>T	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41924037C>T	(Likely) benign	1 lab	ca196452bc
18:48316898 MISSING G>Alt too long to show for this DUP	18	48316898	48374186	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.48316899_48374186dup	VUS	1 lab	ca1e20db45
2:74600062 DCTN1 C>T	2	74600062	74600062	C	T	DCTN1	c.446G>A	NM_004082.5	NP_004073.2:p.(Arg149Gln)	NC_000002.11:g.74600062C>T	(Likely) benign	1 lab	ca1f14c163
16:919668 LMF1 G>A	16	919668	919668	G	A	LMF1	c.1017+215C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919668G>A	(Likely) benign	1 lab	ca1f7efd56
8:39477767 ADAM18 Ref too long to show for this DEL>A	8	39477767	39494661	Ref too long to show for this DEL	A	ADAM18	c.523-9125_589-122del	NM_014237.3	NP_055052.1:p.?	NC_000008.10:g.39477768_39494661del	VUS	1 lab	ca2454ec10
1:55525196 PCSK9 C>CT	1	55525196	55525200	C	CT	PCSK9	c.1545dup	NM_174936.4	NP_777596.2:p.(Gly516TrpfsTer3)	NC_000001.10:g.55525200dup	(Likely) pathogenic	1 lab	ca273a6707
19:11233996 LDLR G>T	19	11233996	11233996	G	T	LDLR	c.2287G>T	NM_000527.5	NP_000518.1:p.(Glu763Ter)	NC_000019.9:g.11233996G>T	(Likely) pathogenic	1 lab	ca2a3c2afe
20:3870068 PANK2 G>A	20	3870068	3870068	G	A	PANK2	c.321G>A	NM_153638.4	NP_705902.2:p.(Arg107=)	NC_000020.10:g.3870068G>A	(Likely) benign	1 lab	ca310449d0
2:44101077 ABCG8 A>G	2	44101077	44101077	A	G	ABCG8	c.1363A>G	NM_022437.3	NP_071882.1:p.(Ile455Val)	NC_000002.11:g.44101077A>G	VUS	1 lab	ca335f8cf1
10:32644132 MISSING C>Alt too long to show for this DUP	10	32644132	32845573	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.32644133_32845573dup	VUS	1 lab	ca3426c8cc
12:21331626 SLCO1B1 G>A	12	21331626	21331626	G	A	SLCO1B1	c.598G>A	NM_006446.5	NP_006437.3:p.(Ala200Thr)	NC_000012.11:g.21331626G>A	(Likely) benign	1 lab	ca38a96679
6:32065113 TNXB C>T	6	32065113	32065113	C	T	TNXB	c.517G>A	NM_019105.8	NP_061978.6:p.(Ala173Thr)	NC_000006.11:g.32065113C>T	(Likely) benign	1 lab	ca3e799c2e
1:112322855 KCND3 T>C	1	112322855	112322855	T	C	KCND3	c.1453A>G	NM_004980.5	NP_004971.2:p.(Lys485Glu)	NC_000001.10:g.112322855T>C	VUS	1 lab	ca3e8da547
9:107593215 ABCA1 A>G	9	107593215	107593215	A	G	ABCA1	c.1883T>C	NM_005502.4	NP_005493.2:p.(Val628Ala)	NC_000009.11:g.107593215A>G	(Likely) pathogenic	1 lab	ca44496ea5
1:215953165 USH2A CT>C	1	215953165	215953174	CT	C	USH2A	c.10939+19del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215953174del	(Likely) benign	1 lab	ca46add73f
11:196965 MISSING Ref too long to show for this DEL>G	11	196965	624734	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.196966_624734del	(Likely) pathogenic	1 lab	ca47189c4c
18:19426978 MIB1 A>G	18	19426978	19426978	A	G	MIB1	c.2285A>G	NM_020774.4	NP_065825.1:p.(Asn762Ser)	NC_000018.9:g.19426978A>G	VUS	1 lab	ca4867a59f
11:30804641 MISSING C>Alt too long to show for this DUP	11	30804641	30903063	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.30804642_30903063dup	VUS	1 lab	ca48aec9e4
19:18244784 MISSING Ref too long to show for this DEL>A	19	18244784	18295457	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.18244787_18295457del	VUS	1 lab	ca4a7806ac
8:1876740 ARHGEF10 GC>G	8	1876740	1876741	GC	G	ARHGEF10	c.2918del	NM_001308153.2	NP_001295082.1:p.(Ala973AspfsTer10)	NC_000008.10:g.1876741del	VUS	1 lab	ca4c68c4f7
3:49691207 BSN C>G	3	49691207	49691207	C	G	BSN	c.4218C>G	NM_003458.4	NP_003449.2:p.(Ser1406=)	NC_000003.11:g.49691207C>G	(Likely) benign	1 lab	ca4cac0b59
19:40359589 FCGBP Ref too long to show for this DEL>A	19	40359589	40393809	Ref too long to show for this DEL	A	FCGBP	c.7594-899_15552+1266del	NM_003890.3	NP_003881.2:p.?	NC_000019.9:g.40359590_40393809del	VUS	1 lab	ca4ef9c14f
2:21224842 APOB C>T	2	21224842	21224842	C	T	APOB	c.13452G>A	NM_000384.3	NP_000375.3:p.(Thr4484=)	NC_000002.11:g.21224842C>T	(Likely) benign	1 lab	ca50ef9e86
2:21242576 APOB G>T	2	21242576	21242576	G	T	APOB	c.2999+19C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242576G>T	(Likely) benign	1 lab	ca538472a7
22:32647802 SLC5A4 C>T	22	32647802	32647802	C	T	SLC5A4	c.267G>A	NM_014227.3	NP_055042.1:p.(Gly89=)	NC_000022.10:g.32647802C>T	(Likely) benign	1 lab	ca54adecc8
5:33984424 SLC45A2 CG>C	5	33984424	33984425	CG	C	SLC45A2	c.264del	NM_001012509.4	NP_001012527.2:p.(Gly89AspfsTer24)	NC_000005.9:g.33984425del	(Likely) pathogenic	1 lab	ca55102c37
6:32064239 TNXB C>T	6	32064239	32064239	C	T	TNXB	c.1391G>A	NM_019105.8	NP_061978.6:p.(Arg464His)	NC_000006.11:g.32064239C>T	VUS	1 lab	ca55d1a880
2:21239487 APOB T>C	2	21239487	21239487	T	C	APOB	c.3156A>G	NM_000384.3	NP_000375.3:p.(Lys1052=)	NC_000002.11:g.21239487T>C	(Likely) benign	1 lab	ca562a6517
16:1020855 LMF1 G>A	16	1020855	1020855	G	A	LMF1	c.126C>T	NM_022773.4	NP_073610.2:p.(Ala42=)	NC_000016.9:g.1020855G>A	(Likely) benign	1 lab	ca585da052
5:37198987 CPLANE1 T>C	5	37198987	37198987	T	C	CPLANE1	c.3508-19A>G	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37198987T>C	(Likely) benign	1 lab	ca5cdf8935
4:39246027 WDR19 C>T	4	39246027	39246027	C	T	WDR19	c.2562+19C>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39246027C>T	(Likely) benign	1 lab	ca5e00bd9e
3:65839266 MISSING A>Alt too long to show for this DUP	3	65839266	66139038	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.65839267_66139038dup	VUS	1 lab	ca6510bf40
16:89145481 MISSING C>Alt too long to show for this DUP	16	89145481	89363602	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.89145482_89363602dup	VUS	1 lab	ca6814cf37
6:66045001 EYS G>A	6	66045001	66045001	G	A	EYS	c.1638C>T	NM_001292009.2	NP_001278938.1:p.(Asp546=)	NC_000006.11:g.66045001G>A	(Likely) benign	1 lab	ca6a219550
21:22315583 MISSING A>Alt too long to show for this DUP	21	22315583	22376991	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.22315585_22376991dup	VUS	1 lab	ca6c752729
15:48719904 FBN1 C>T	15	48719904	48719904	C	T	FBN1	c.7064G>A	NM_000138.5	NP_000129.3:p.(Arg2355Lys)	NC_000015.9:g.48719904C>T	VUS	1 lab	ca6d69c470
11:128717321 MISSING Ref too long to show for this DEL>T	11	128717321	128744619	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.128717322_128744619del	VUS	1 lab	ca6eba063f
17:59857599 BRIP1 C>A	17	59857599	59857599	C	A	BRIP1	c.1935+23G>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857599C>A	VUS	1 lab	ca6f5ff581
4:88536868 DSPP TAGTGACAGCAGCAATAGC>T	4	88536868	88536900	TAGTGACAGCAGCAATAGC	T	DSPP	c.3069_3086del	NM_014208.3	NP_055023.2:p.(Asn1029_Ser1034del)	NC_000004.11:g.88536883_88536900del	(Likely) benign	1 lab	ca737c5823
11:47362726 MYBPC3 G>C	11	47362726	47362726	G	C	MYBPC3	c.1860C>G	NM_000256.3	NP_000247.2:p.(Gly620=)	NC_000011.9:g.47362726G>C	(Likely) benign	1 lab	ca75921533
6:43568821 POLH C>T	6	43568821	43568821	C	T	POLH	c.757C>T	NM_006502.3	NP_006493.1:p.(Arg253Cys)	NC_000006.11:g.43568821C>T	VUS	1 lab	ca76c5501f
18:34273279 FHOD3 C>G	18	34273279	34273279	C	G	FHOD3	c.2129C>G	NM_001281740.3	NP_001268669.1:p.(Ala710Gly)	NC_000018.9:g.34273279C>G	(Likely) benign	1 lab	ca7bbbca49
6:149946189 MISSING C>Alt too long to show for this DUP	6	149946189	150004365	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.149946190_150004365dup	VUS	1 lab	ca7d249b3d
3:100963282 IMPG2 C>T	3	100963282	100963282	C	T	IMPG2	c.1893G>A	NM_016247.4	NP_057331.2:p.(Pro631=)	NC_000003.11:g.100963282C>T	(Likely) benign	1 lab	ca7dd0525b
X:47069360 UBA1 G>A	X	47069360	47069360	G	A	UBA1	c.2037G>A	NM_003334.4	NP_003325.2:p.(Leu679=)	NC_000023.10:g.47069360G>A	(Likely) benign	1 lab	ca7f711da3
X:77276487 ATP7A C>T	X	77276487	77276487	C	T	ATP7A	c.2827C>T	NM_000052.7	NP_000043.4:p.(Pro943Ser)	NC_000023.10:g.77276487C>T	VUS	1 lab	ca8336e89f
1:19570092 EMC1 C>T	1	19570092	19570092	C	T	EMC1	c.380+16G>A	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19570092C>T	(Likely) benign	1 lab	ca849d1712
2:21259562 APOB T>C	2	21259562	21259562	T	C	APOB	c.693+410A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21259562T>C	(Likely) benign	1 lab	ca84dcc08e
1:59992212 FGGY Ref too long to show for this DEL>A	1	59992212	60111306	Ref too long to show for this DEL	A	FGGY	c.799+14103_1221+7259del	NM_018291.5	NP_060761.3:p.?	NC_000001.10:g.59992214_60111306del	VUS	1 lab	ca876358bd
9:27009100 IFT74 T>C	9	27009100	27009100	T	C	IFT74	c.670T>C	NM_001099222.3	NP_001092692.1:p.(Phe224Leu)	NC_000009.11:g.27009100T>C	(Likely) benign	1 lab	ca8b85c78e
2:128051197 ERCC3 C>T	2	128051197	128051197	C	T	ERCC3	c.126G>A	NM_000122.2	NP_000113.1:p.(Ala42=)	NC_000002.11:g.128051197C>T	(Likely) benign	1 lab	ca8c7b083e
8:19818592 LPL A>G	8	19818592	19818592	A	G	LPL	c.1320A>G	NM_000237.3	NP_000228.1:p.(Lys440=)	NC_000008.10:g.19818592A>G	(Likely) benign	1 lab	ca8d189d4e
2:73677076 ALMS1 C>G	2	73677076	73677076	C	G	ALMS1	c.3425C>G	NM_015120.4	NP_055935.4:p.(Ser1142Ter)	NC_000002.11:g.73677076C>G	(Likely) pathogenic	1 lab	ca8d480cce
15:34536214 SLC12A6 C>T	15	34536214	34536214	C	T	SLC12A6	c.2003G>A	NM_133647.2	NP_598408.1:p.(Arg668Gln)	NC_000015.9:g.34536214C>T	VUS	1 lab	ca8ec29eed
9:107624330 ABCA1 T>TAC	9	107624330	107624357	T	TAC	ABCA1	c.422-251_422-250dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624356_107624357dup	(Likely) benign	1 lab	ca8fecb7d1
1:25890147 LDLRAP1 C>T	1	25890147	25890147	C	T	LDLRAP1	c.617-5C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890147C>T	(Likely) benign	1 lab	ca91115ad2
19:50781537 MYH14 G>A	19	50781537	50781537	G	A	MYH14	c.4023G>A	NM_001145809.2	NP_001139281.1:p.(Gln1341=)	NC_000019.9:g.50781537G>A	(Likely) benign	1 lab	ca9375a541
10:68979569 CTNNA3 C>G	10	68979569	68979569	C	G	CTNNA3	c.639G>C	NM_013266.4	NP_037398.2:p.(Glu213Asp)	NC_000010.10:g.68979569C>G	VUS	1 lab	ca94532806
1:29651739 PTPRU C>T	1	29651739	29651739	C	T	PTPRU	c.4179C>T	NM_005704.5	NP_005695.3:p.(Cys1393=)	NC_000001.10:g.29651739C>T	(Likely) benign	1 lab	ca94d1bd87
1:228467095 OBSCN T>C	1	228467095	228467095	T	C	OBSCN	c.8633T>C	NM_001386125.1	NP_001373054.1:p.(Val2878Ala)	NC_000001.10:g.228467095T>C	(Likely) benign	1 lab	ca9a31bcd8
15:28259940 OCA2 G>A	15	28259940	28259940	G	A	OCA2	c.1026C>T	NM_000275.3	NP_000266.2:p.(Tyr342=)	NC_000015.9:g.28259940G>A	(Likely) benign	1 lab	ca9ec3394c
8:144297143 GPIHBP1 T>C	8	144297143	144297143	T	C	GPIHBP1	c.305T>C	NM_178172.6	NP_835466.2:p.(Leu102Pro)	NC_000008.10:g.144297143T>C	(Likely) benign	1 lab	caa28acdce
9:35072273 VCP C>G	9	35072273	35072273	C	G	VCP	c.-119+1G>C	NM_001354927.2	NP_001341856.1:p.?	NC_000009.11:g.35072273C>G	VUS	1 lab	caa44c1970
14:102505531 DYNC1H1 G>A	14	102505531	102505531	G	A	DYNC1H1	c.11400G>A	NM_001376.5	NP_001367.2:p.(Gln3800=)	NC_000014.8:g.102505531G>A	(Likely) benign	1 lab	caa517bdb0
8:42865481 HOOK3 G>A	8	42865481	42865481	G	A	HOOK3	c.1772G>A	NM_032410.4	NP_115786.1:p.(Arg591Gln)	NC_000008.10:g.42865481G>A	VUS	1 lab	caa812955f
14:90755145 NRDE2 G>A	14	90755145	90755145	G	A	NRDE2	c.2574C>T	NM_017970.4	NP_060440.2:p.(Pro858=)	NC_000014.8:g.90755145G>A	(Likely) benign	1 lab	caac51bc86
11:9867186 SBF2 G>A	11	9867186	9867186	G	A	SBF2	c.3036C>T	NM_030962.4	NP_112224.1:p.(Thr1012=)	NC_000011.9:g.9867186G>A	(Likely) benign	1 lab	caad2c0b26
1:21890522 ALPL C>T	1	21890522	21890522	C	T	ALPL	c.473-12C>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21890522C>T	(Likely) benign	1 lab	caadd3d828
9:139395683 NOTCH1 C>T	9	139395683	139395683	C	T	NOTCH1	c.5639-384G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139395683C>T	(Likely) benign	1 lab	caae9627cb
20:33507379 ACSS2 AGTGTGTGT>A	20	33507379	33507423	AGTGTGTGT	A	ACSS2	c.1011+41_1011+48del	NM_001076552.3	NP_001070020.2:p.?	NC_000020.10:g.33507416_33507423del	(Likely) benign	1 lab	cab0947373
17:48270269 COL1A1 C>T	17	48270269	48270269	C	T	COL1A1	c.1822-58G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270269C>T	(Likely) benign	1 lab	cab50d63c2
7:91712933 AKAP9 C>T	7	91712933	91712933	C	T	AKAP9	c.8610C>T	NM_005751.5	NP_005742.4:p.(Thr2870=)	NC_000007.13:g.91712933C>T	(Likely) benign	1 lab	cab68c8a7b
11:119210206 C1QTNF5 G>A	11	119210206	119210206	G	A	C1QTNF5	c.567C>T	NM_015645.5	NP_056460.1:p.(Ala189=)	NC_000011.9:g.119210206G>A	(Likely) benign	1 lab	cab7608c5d
18:47110117 LIPG G>A	18	47110117	47110117	G	A	LIPG	c.1349G>A	NM_006033.4	NP_006024.1:p.(Arg450Gln)	NC_000018.9:g.47110117G>A	VUS	1 lab	caba40173c
9:137677740 COL5A1 C>T	9	137677740	137677740	C	T	COL5A1	c.2593-101C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137677740C>T	(Likely) benign	1 lab	cabe29161d
10:114910812 TCF7L2 C>A	10	114910812	114910812	C	A	TCF7L2	c.877C>A	NM_001198525.2	NP_001185454.1:p.(His293Asn)	NC_000010.10:g.114910812C>A	VUS	1 lab	cabec8ed39
2:179427117 TTN T>C	2	179427117	179427117	T	C	TTN	c.83742A>G	NM_001267550.2	NP_001254479.2:p.(Thr27914=)	NC_000002.11:g.179427117T>C	(Likely) benign	1 lab	cac5247178
20:20585840 RALGAPA2 C>Alt too long to show for this DUP	20	20585840	20634212	C	Alt too long to show for this DUP	RALGAPA2	c.290_2016dup	NM_020343.4	NP_065076.2:p.(Glu673LeufsTer13)	NC_000020.10:g.20585841_20634212dup	VUS	1 lab	cacb115ea4
1:25880476 LDLRAP1 AG>A	1	25880476	25880477	AG	A	LDLRAP1	c.153del	NM_015627.3	NP_056442.2:p.(Lys51AsnfsTer5)	NC_000001.10:g.25880477del	(Likely) pathogenic	1 lab	cad0570679
3:9796508 OGG1 G>A	3	9796508	9796508	G	A	OGG1	c.686G>A	NM_016821.3	NP_058214.1:p.(Arg229Gln)	NC_000003.11:g.9796508G>A	(Likely) benign	1 lab	cad106e7d8
6:10877506 GCM2 G>T	6	10877506	10877506	G	T	GCM2	c.210C>A	NM_004752.4	NP_004743.1:p.(Asn70Lys)	NC_000006.11:g.10877506G>T	VUS	1 lab	cad18c3ee8
16:46766316 MYLK3 G>A	16	46766316	46766316	G	A	MYLK3	c.1266C>T	NM_182493.3	NP_872299.2:p.(Ala422=)	NC_000016.9:g.46766316G>A	(Likely) benign	1 lab	cad7f9d7ac
12:7177739 C1S C>T	12	7177739	7177739	C	T	C1S	c.1851C>T	NM_001734.5	NP_001725.1:p.(Ile617=)	NC_000012.11:g.7177739C>T	(Likely) benign	1 lab	cad814a0fc
4:97064631 MISSING Ref too long to show for this DEL>T	4	97064631	98376621	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.97064633_98376621del	VUS	1 lab	cad87e91a5
15:56748725 MNS1 C>T	15	56748725	56748725	C	T	MNS1	c.226-6G>A	NM_018365.4	NP_060835.1:p.?	NC_000015.9:g.56748725C>T	(Likely) benign	1 lab	cad8c6aca4
20:45358116 SLC2A10 C>T	20	45358116	45358116	C	T	SLC2A10	c.1536C>T	NM_030777.4	NP_110404.1:p.(Phe512=)	NC_000020.10:g.45358116C>T	(Likely) benign	1 lab	cad9f4a373
12:122252119 SETD1B G>A	12	122252119	122252119	G	A	SETD1B	c.1998G>A	NM_001353345.2	NP_001340274.1:p.(Ala666=)	NC_000012.11:g.122252119G>A	(Likely) benign	1 lab	cadb5c7d29
2:177034121 HOXD3 G>T	2	177034121	177034121	G	T	HOXD3	c.279G>T	NM_006898.5	NP_008829.3:p.(Pro93=)	NC_000002.11:g.177034121G>T	(Likely) benign	1 lab	cade042fb3
2:189864304 COL3A1 G>T	2	189864304	189864304	G	T	COL3A1	c.2229+1G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864304G>T	(Likely) pathogenic	1 lab	cade656874
16:68712457 CDH3 G>A	16	68712457	68712457	G	A	CDH3	c.444G>A	NM_001793.6	NP_001784.2:p.(Pro148=)	NC_000016.9:g.68712457G>A	(Likely) benign	1 lab	cadf9d80b8
12:49432215 KMT2D C>T	12	49432215	49432215	C	T	KMT2D	c.8924G>A	NM_003482.4	NP_003473.3:p.(Arg2975His)	NC_000012.11:g.49432215C>T	VUS	1 lab	cae2784c62
15:48902939 FBN1 C>A	15	48902939	48902939	C	A	FBN1	c.332G>T	NM_000138.5	NP_000129.3:p.(Cys111Phe)	NC_000015.9:g.48902939C>A	(Likely) pathogenic	1 lab	cae2cb7655
12:124382430 DNAH10 A>G	12	124382430	124382430	A	G	DNAH10	c.9040A>G	NM_207437.3	NP_997320.2:p.(Ser3014Gly)	NC_000012.11:g.124382430A>G	(Likely) benign	1 lab	cae60f4ea1
6:42672083 PRPH2 C>T	6	42672083	42672083	C	T	PRPH2	c.828+20G>A	NM_000322.5	NP_000313.2:p.?	NC_000006.11:g.42672083C>T	(Likely) benign	1 lab	cae6c16acc
15:72955060 GOLGA6B G>A	15	72955060	72955060	G	A	GOLGA6B	c.1315G>A	NM_018652.4	NP_061122.4:p.(Asp439Asn)	NC_000015.9:g.72955060G>A	(Likely) benign	1 lab	cae967368e
2:73853216 MISSING Ref too long to show for this DEL>T	2	73853216	73911035	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.73853219_73911035del	VUS	1 lab	cae9c0a53f
3:3752399 MISSING A>Alt too long to show for this DUP	3	3752399	4101848	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.3752400_4101848dup	VUS	1 lab	cae9e42255
20:13090813 SPTLC3 G>A	20	13090813	13090813	G	A	SPTLC3	c.881G>A	NM_018327.4	NP_060797.2:p.(Arg294Gln)	NC_000020.10:g.13090813G>A	VUS	1 lab	caeb90e280
X:70443634 GJB1 C>G	X	70443634	70443634	C	G	GJB1	c.77C>G	NM_000166.6	NP_000157.1:p.(Ser26Trp)	NC_000023.10:g.70443634C>G	(Likely) pathogenic	1 lab	caefd5cb12
10:68526012 CTNNA3 G>C	10	68526012	68526012	G	C	CTNNA3	c.1281+10C>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68526012G>C	(Likely) benign	1 lab	caf0087753
14:105413042 AHNAK2 T>C	14	105413042	105413042	T	C	AHNAK2	c.8746A>G	NM_138420.4	NP_612429.2:p.(Ile2916Val)	NC_000014.8:g.105413042T>C	(Likely) benign	1 lab	caf412eaed
11:47374276 MYBPC3 C>G	11	47374276	47374276	C	G	MYBPC3				NC_000011.9:g.47374276C>G	(Likely) benign	1 lab	caf5adc029
6:56481991 DST G>A	6	56481991	56481991	G	A	DST	c.6274C>T	NM_001723.7	NP_001714.1:p.(Leu2092Phe)	NC_000006.11:g.56481991G>A	VUS	1 lab	caf604934b
20:2639410 IDH3B G>C	20	2639410	2639410	G	C	IDH3B	c.1145C>G	NM_006899.5	NP_008830.2:p.(Thr382Ser)	NC_000020.10:g.2639410G>C	(Likely) benign	1 lab	caf740bef6
17:45229228 CDC27 A>C	17	45229228	45229228	A	C	CDC27	c.1032T>G	NM_001114091.4	NP_001107563.1:p.(Asn344Lys)	NC_000017.10:g.45229228A>C	(Likely) benign	1 lab	caf83dc45a
11:47356640 MYBPC3 C>T	11	47356640	47356640	C	T	MYBPC3	c.2858G>A	NM_000256.3	NP_000247.2:p.(Gly953Glu)	NC_000011.9:g.47356640C>T	VUS	1 lab	caf8cfdafa
15:43677996 TUBGCP4 T>C	15	43677996	43677996	T	C	TUBGCP4	c.731T>C	NM_001286414.3	NP_001273343.1:p.(Ile244Thr)	NC_000015.9:g.43677996T>C	(Likely) benign	1 lab	caf9bbe29d
19:49686171 TRPM4 G>C	19	49686171	49686171	G	C	TRPM4	c.1600G>C	NM_017636.4	NP_060106.2:p.(Gly534Arg)	NC_000019.9:g.49686171G>C	VUS	1 lab	cafc36ee37
4:190878567 FRG1 G>C	4	190878567	190878567	G	C	FRG1	c.447G>C	NM_004477.3	NP_004468.1:p.(Leu149Phe)	NC_000004.11:g.190878567G>C	(Likely) benign	1 lab	cafef333de
6:56483024 DST T>C	6	56483024	56483024	T	C	DST	c.5808A>G	NM_001723.7	NP_001714.1:p.(Glu1936=)	NC_000006.11:g.56483024T>C	(Likely) benign	1 lab	cb02781c18
19:11222261 LDLR C>T	19	11222261	11222261	C	T	LDLR	c.1132C>T	NM_000527.5	NP_000518.1:p.(Gln378Ter)	NC_000019.9:g.11222261C>T	(Likely) pathogenic	1 lab	cb06f84e15
4:140291391 NAA15 A>T	4	140291391	140291391	A	T	NAA15	c.1780A>T	NM_057175.5	NP_476516.1:p.(Lys594Ter)	NC_000004.11:g.140291391A>T	(Likely) pathogenic	1 lab	cb0ce5a519
2:152490273 NEB G>A	2	152490273	152490273	G	A	NEB	c.9309C>T	NM_001271208.2	NP_001258137.2:p.(Thr3103=)	NC_000002.11:g.152490273G>A	(Likely) benign	1 lab	cb0e77881a
2:189867745 COL3A1 G>T	2	189867745	189867745	G	T	COL3A1	c.2510G>T	NM_000090.4	NP_000081.2:p.(Gly837Val)	NC_000002.11:g.189867745G>T	(Likely) pathogenic	1 lab	cb12c4f758
7:154519612 DPP6 G>A	7	154519612	154519612	G	A	DPP6	c.883+15G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154519612G>A	(Likely) benign	1 lab	cb8e6cadcc
1:235611775 TBCE A>ACAAAGT	1	235611775	235611790	A	ACAAAGT	TBCE	c.1644+30_1644+35dup	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235611785_235611790dup	(Likely) benign	1 lab	cb1327fe1e
2:179580516 TTN G>A	2	179580516	179580516	G	A	TTN	c.25640-15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179580516G>A	(Likely) benign	1 lab	cb13838812
2:238436100 MLPH GCTCA>G	2	238436100	238436105	GCTCA	G	MLPH	c.963_966del	NM_024101.7	NP_077006.1:p.(His322Ter)	NC_000002.11:g.238436102_238436105del	(Likely) pathogenic	1 lab	cb147f278e
16:920777 LMF1 G>A	16	920777	920777	G	A	LMF1	c.785C>T	NM_001352018.2	NP_001338947.1:p.(Thr262Ile)	NC_000016.9:g.920777G>A	VUS	1 lab	cb1abe10f2
7:33303884 BBS9 T>A	7	33303884	33303884	T	A	BBS9	c.618-18T>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33303884T>A	(Likely) benign	1 lab	cb47805354
17:17125875 FLCN G>A	17	17125875	17125875	G	A	FLCN	c.719C>T	NM_144997.7	NP_659434.2:p.(Ser240Leu)	NC_000017.10:g.17125875G>A	VUS	1 lab	cb1d8c6447
X:77152191 COX7B Ref too long to show for this DEL>C	X	77152191	77160316	Ref too long to show for this DEL	C	COX7B				NC_000023.10:g.77152193_77160316del	VUS	1 lab	cb1e61fa92
7:94056356 COL1A2 G>T	7	94056356	94056356	G	T	COL1A2	c.3142G>T	NM_000089.4	NP_000080.2:p.(Gly1048Cys)	NC_000007.13:g.94056356G>T	(Likely) pathogenic	1 lab	cb1e9f3804
X:150020005 CD99L2 A>Alt too long to show for this DUP	X	150020005	150044856	A	Alt too long to show for this DUP	CD99L2	c.67+22139_68-20240dup	NM_031462.4	NP_113650.2:p.?	NC_000023.10:g.150020006_150044856dup	VUS	1 lab	cb1f24c800
12:32955208 PKP2 C>T	12	32955208	32955208	C	T	PKP2	c.2299+129G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955208C>T	(Likely) benign	1 lab	cb214bcf1a
10:126691997 CTBP2 G>T	10	126691997	126691997	G	T	CTBP2	c.1743C>A	NM_022802.3	NP_073713.2:p.(Gly581=)	NC_000010.10:g.126691997G>T	(Likely) benign	1 lab	cb2262dbc2
1:216052092 USH2A T>A	1	216052092	216052092	T	A	USH2A	c.8558+14A>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216052092T>A	(Likely) benign	1 lab	cb229531bd
10:124248925 HTRA1 C>T	10	124248925	124248925	C	T	HTRA1	c.573-13C>T	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124248925C>T	(Likely) benign	1 lab	cb2444e60a
18:34081914 FHOD3 C>T	18	34081914	34081914	C	T	FHOD3	c.357C>T	NM_001281740.3	NP_001268669.1:p.(Ser119=)	NC_000018.9:g.34081914C>T	(Likely) benign	1 lab	cb2468b41d
6:111696498 REV3L C>T	6	111696498	111696498	C	T	REV3L	c.2826G>A	NM_001286431.2	NP_001273360.1:p.(Leu942=)	NC_000006.11:g.111696498C>T	(Likely) benign	1 lab	cb2f9b8a5d
21:38308774 HLCS C>T	21	38308774	38308774	C	T	HLCS	c.971G>A	NM_001242784.3	NP_001229713.1:p.(Arg324His)	NC_000021.8:g.38308774C>T	(Likely) benign	1 lab	cb30848dda
10:68322617 CTNNA3 Ref too long to show for this DEL>T	10	68322617	68535289	Ref too long to show for this DEL	T	CTNNA3	c.1048-4_1375-42087del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68322621_68535289del	VUS	1 lab	cb34f95437
2:189898847 COL5A2 G>A	2	189898847	189898847	G	A	COL5A2	c.4449C>T	NM_000393.5	NP_000384.2:p.(Gly1483=)	NC_000002.11:g.189898847G>A	(Likely) benign	1 lab	cb363b8574
2:21227503 APOB T>C	2	21227503	21227503	T	C	APOB	c.11833A>G	NM_000384.3	NP_000375.3:p.(Thr3945Ala)	NC_000002.11:g.21227503T>C	(Likely) benign	1 lab	cb36ede088
16:16243973 ABCC6 C>T	16	16243973	16243973	C	T	ABCC6	c.*17G>A	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16243973C>T	(Likely) benign	1 lab	cb3a696882
16:57012048 CETP C>G	16	57012048	57012048	C	G	CETP	c.1027C>G	NM_000078.3	NP_000069.2:p.(Leu343Val)	NC_000016.9:g.57012048C>G	VUS	1 lab	cb3b425a14
11:48185026 PTPRJ G>A	11	48185026	48185026	G	A	PTPRJ	c.3575G>A	NM_002843.4	NP_002834.3:p.(Ser1192Asn)	NC_000011.9:g.48185026G>A	VUS	1 lab	cb3d3812f5
6:169646282 THBS2 A>T	6	169646282	169646282	A	T	THBS2	c.694+10T>A	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169646282A>T	(Likely) benign	1 lab	cb3e6c4f5d
X:115574597 MISSING Ref too long to show for this DEL>G	X	115574597	115631329	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.115574598_115631329del	VUS	1 lab	cb466281b7
6:17606159 FAM8A1 C>A	6	17606159	17606159	C	A	FAM8A1	c.1012C>A	NM_016255.3	NP_057339.1:p.(Leu338Ile)	NC_000006.11:g.17606159C>A	(Likely) benign	1 lab	cb49bcc652
14:23893122 MYH7 C>G	14	23893122	23893122	C	G	MYH7	c.2916G>C	NM_000257.4	NP_000248.2:p.(Glu972Asp)	NC_000014.8:g.23893122C>G	VUS	1 lab	cb53c440b7
5:100176332 ST8SIA4 Ref too long to show for this DEL>T	5	100176332	100207442	Ref too long to show for this DEL	T	ST8SIA4	c.503+14606_797+15474del	NM_005668.6	NP_005659.1:p.?	NC_000005.9:g.100176334_100207442del	VUS	1 lab	cb5574327e
4:15504540 CC2D2A C>G	4	15504540	15504540	C	G	CC2D2A	c.432C>G	NM_001080522.2	NP_001073991.2:p.(Gly144=)	NC_000004.11:g.15504540C>G	(Likely) benign	1 lab	cb563fc64f
1:236900597 ACTN2 GCATA>G	1	236900597	236900601	GCATA	G	ACTN2	c.876+84_876+87del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900598_236900601del	(Likely) benign	1 lab	cb59834b53
7:128493669 FLNC G>A	7	128493669	128493669	G	A	FLNC	c.6355G>A	NM_001458.5	NP_001449.3:p.(Val2119Met)	NC_000007.13:g.128493669G>A	VUS	1 lab	cb5d13aec5
15:43669196 TUBGCP4 A>T	15	43669196	43669196	A	T	TUBGCP4	c.331-16A>T	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43669196A>T	(Likely) benign	1 lab	cb6143d1b4
9:80855126 CEP78 A>G	9	80855126	80855126	A	G	CEP78	c.426+15A>G	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80855126A>G	(Likely) benign	1 lab	cb62ee84f9
18:2777923 SMCHD1 A>G	18	2777923	2777923	A	G	SMCHD1	c.5476+10A>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2777923A>G	(Likely) benign	1 lab	cb63502a86
3:49069678 QRICH1 C>T	3	49069678	49069678	C	T	QRICH1	c.2076G>A	NM_017730.4	NP_060200.2:p.(Thr692=)	NC_000003.11:g.49069678C>T	(Likely) benign	1 lab	cb640b1a8a
2:71801465 DYSF G>A	2	71801465	71801465	G	A	DYSF	c.3363G>A	NM_001130981.2	NP_001124453.1:p.(Thr1121=)	NC_000002.11:g.71801465G>A	(Likely) benign	1 lab	cb64a4e3a8
3:97851879 MISSING Ref too long to show for this DEL>T	3	97851879	97890872	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.97851882_97890872del	(Likely) benign	1 lab	cb6600d6b8
18:47101880 LIPG A>C	18	47101880	47101880	A	C	LIPG	c.713A>C	NM_006033.4	NP_006024.1:p.(His238Pro)	NC_000018.9:g.47101880A>C	(Likely) pathogenic	1 lab	cb67673375
14:76432002 TGFB3 G>A	14	76432002	76432002	G	A	TGFB3	c.683C>T	NM_003239.5	NP_003230.1:p.(Pro228Leu)	NC_000014.8:g.76432002G>A	VUS	1 lab	cb68abfc46
14:23892818 MYH7 C>T	14	23892818	23892818	C	T	MYH7	c.3037G>A	NM_000257.4	NP_000248.2:p.(Glu1013Lys)	NC_000014.8:g.23892818C>T	VUS	1 lab	cb6c37e5b4
16:11899361 MISSING Ref too long to show for this DEL>G	16	11899361	11953750	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.11899363_11953750del	VUS	1 lab	cb6d6fb006
9:107558430 ABCA1 G>T	9	107558430	107558430	G	T	ABCA1	c.5286C>A	NM_005502.4	NP_005493.2:p.(Ile1762=)	NC_000009.11:g.107558430G>T	(Likely) benign	1 lab	cb75470c17
12:936382 WNK1 C>T	12	936382	936382	C	T	WNK1	c.1107C>T	NM_001184985.2	NP_001171914.1:p.(Leu369=)	NC_000012.11:g.936382C>T	(Likely) benign	1 lab	cb7913d23d
1:78392588 NEXN A>G	1	78392588	78392588	A	G	NEXN	c.864+11A>G	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392588A>G	(Likely) benign	1 lab	cb79c71409
9:107665511 ABCA1 C>T	9	107665511	107665511	C	T	ABCA1	c.66+384G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665511C>T	(Likely) benign	1 lab	cb7b10dbff
X:63412296 AMER1 C>A	X	63412296	63412296	C	A	AMER1	c.871G>T	NM_152424.4	NP_689637.3:p.(Glu291Ter)	NC_000023.10:g.63412296C>A	(Likely) pathogenic	1 lab	cb7f7024da
12:21959008 ABCC9 A>T	12	21959008	21959008	A	T	ABCC9	c.4450-14T>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21959008A>T	(Likely) benign	1 lab	cb822cb4a5
19:55317584 KIR2DL4 C>T	19	55317584	55317584	C	T	KIR2DL4	c.540C>T	NM_001080772.2	NP_001074241.1:p.(Ala180=)	NC_000019.9:g.55317584C>T	(Likely) benign	1 lab	cb8274b79d
1:25870175 LDLRAP1 C>G	1	25870175	25870175	C	G	LDLRAP1	c.-15C>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870175C>G	VUS	1 lab	cb837bc0c6
16:599648 CAPN15 G>A	16	599648	599648	G	A	CAPN15	c.1876G>A	NM_005632.3	NP_005623.1:p.(Glu626Lys)	NC_000016.9:g.599648G>A	VUS	1 lab	cb8505b389
1:179887125 TOR1AIP1 G>A	1	179887125	179887125	G	A	TOR1AIP1	c.1506G>A	NM_001267578.2	NP_001254507.1:p.(Ala502=)	NC_000001.10:g.179887125G>A	(Likely) benign	1 lab	cb88bedb81
9:67927043 ANKRD20A1 C>T	9	67927043	67927043	C	T	ANKRD20A1	c.171C>T	NM_032250.5	NP_115626.2:p.(Ser57=)	NC_000009.11:g.67927043C>T	(Likely) benign	1 lab	cb8abc97bc
12:57970125 KIF5A T>G	12	57970125	57970125	T	G	KIF5A	c.2162T>G	NM_004984.4	NP_004975.2:p.(Ile721Ser)	NC_000012.11:g.57970125T>G	VUS	1 lab	cb8c19f662
6:152832135 SYNE1 T>C	6	152832135	152832135	T	C	SYNE1	c.402+11A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152832135T>C	(Likely) benign	1 lab	cb8d3b247f
11:63400507 ATL3 G>A	11	63400507	63400507	G	A	ATL3	c.1098C>T	NM_015459.5	NP_056274.3:p.(Asn366=)	NC_000011.9:g.63400507G>A	(Likely) benign	1 lab	cb8d99c2c9
2:47403612 CALM2 G>A	2	47403612	47403612	G	A	CALM2	c.69C>T	NM_001305624.1	NP_001292553.1:p.(Val23=)	NC_000002.11:g.47403612G>A	(Likely) benign	1 lab	cb8e4a32ce
15:73616550 HCN4 C>T	15	73616550	73616550	C	T	HCN4	c.2023G>A	NM_005477.3	NP_005468.1:p.(Ala675Thr)	NC_000015.9:g.73616550C>T	VUS	1 lab	cb93140ec7
1:236923271 ACTN2 C>T	1	236923271	236923271	C	T	ACTN2	c.2367+182C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236923271C>T	(Likely) benign	1 lab	cb94733f69
2:111260747 MISSING Ref too long to show for this DEL>T	2	111260747	113103165	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.111260748_113103165del	(Likely) pathogenic	1 lab	cb976e6556
20:61456488 COL9A3 G>A	20	61456488	61456488	G	A	COL9A3	c.630+115G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61456488G>A	(Likely) benign	1 lab	cb984a1ae3
11:88911241 TYR C>T	11	88911241	88911241	C	T	TYR	c.120C>T	NM_000372.5	NP_000363.1:p.(Ser40=)	NC_000011.9:g.88911241C>T	(Likely) benign	1 lab	cb98d2f659
16:3900437 CREBBP C>G	16	3900437	3900437	C	G	CREBBP	c.659G>C	NM_004380.3	NP_004371.2:p.(Arg220Thr)	NC_000016.9:g.3900437C>G	VUS	1 lab	cb9a3407b1
9:124422182 DAB2IP A>Alt too long to show for this DUP	9	124422182	124457996	A	Alt too long to show for this DUP	DAB2IP	c.124+8007_229-3608dup	NM_001395010.1	NP_001381939.1:p.?	NC_000009.11:g.124422185_124457996dup	VUS	1 lab	cb9c173f77
6:32029929 TNXB C>T	6	32029929	32029929	C	T	TNXB	c.7168+5G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32029929C>T	(Likely) benign	1 lab	cb9f19b028
2:212578379 ERBB4 TAAA>T	2	212578379	212578393	TAAA	T	ERBB4	c.884-9_884-7del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578391_212578393del	(Likely) benign	1 lab	cb9f1ecfa8
2:202571598 ALS2 A>G	2	202571598	202571598	A	G	ALS2	c.4551T>C	NM_020919.4	NP_065970.2:p.(Ile1517=)	NC_000002.11:g.202571598A>G	(Likely) benign	1 lab	cba0279292
2:220496746 SLC4A3 C>T	2	220496746	220496746	C	T	SLC4A3	c.949C>T	NM_201574.3	NP_963868.3:p.(Arg317Trp)	NC_000002.11:g.220496746C>T	VUS	1 lab	cba06b9674
14:23889358 MYH7 C>T	14	23889358	23889358	C	T	MYH7	c.3422G>A	NM_000257.4	NP_000248.2:p.(Arg1141Gln)	NC_000014.8:g.23889358C>T	VUS	1 lab	cba08a766c
9:27229216 TEK G>A	9	27229216	27229216	G	A	TEK	c.3361G>A	NM_000459.5	NP_000450.3:p.(Glu1121Lys)	NC_000009.11:g.27229216G>A	(Likely) pathogenic	1 lab	cba5d0bdac
11:129825485 PRDM10 A>G	11	129825485	129825485	A	G	PRDM10	c.235-19T>C	NM_020228.3	NP_064613.2:p.?	NC_000011.9:g.129825485A>G	(Likely) benign	1 lab	cba6396511
7:94040345 COL1A2 G>T	7	94040345	94040345	G	T	COL1A2	c.1252-23G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040345G>T	(Likely) benign	1 lab	cba86e10ef
1:10042553 NMNAT1 G>A	1	10042553	10042553	G	A	NMNAT1	c.634G>A	NM_001297778.1	NP_001284707.1:p.(Val212Met)	NC_000001.10:g.10042553G>A	(Likely) pathogenic	1 lab	cba8867045
1:237994810 RYR2 G>A	1	237994810	237994810	G	A	RYR2	c.14757-4G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237994810G>A	(Likely) benign	1 lab	cba99cd235
8:141570513 AGO2 G>T	8	141570513	141570513	G	T	AGO2	c.615C>A	NM_012154.5	NP_036286.2:p.(Ser205=)	NC_000008.10:g.141570513G>T	(Likely) benign	1 lab	cbaf9a5c3f
8:35129032 UNC5D C>Alt too long to show for this DUP	8	35129032	35206539	C	Alt too long to show for this DUP	UNC5D	c.103+35629_103+113134dup	NM_080872.4	NP_543148.2:p.?	NC_000008.10:g.35129034_35206539dup	VUS	1 lab	cbb009c6ad
20:60904036 LAMA5 T>A	20	60904036	60904036	T	A	LAMA5	c.4311A>T	NM_005560.6	NP_005551.3:p.(Pro1437=)	NC_000020.10:g.60904036T>A	(Likely) benign	1 lab	cbb0e49b9b
1:47101595 ATPAF1 G>A	1	47101595	47101595	G	A	ATPAF1	c.909C>T	NM_022745.5	NP_073582.3:p.(Tyr303=)	NC_000001.10:g.47101595G>A	(Likely) benign	1 lab	cbb6967605
2:21225335 APOB A>G	2	21225335	21225335	A	G	APOB	c.12959T>C	NM_000384.3	NP_000375.3:p.(Met4320Thr)	NC_000002.11:g.21225335A>G	(Likely) benign	1 lab	cbb721ccfa
5:121405769 LOX G>T	5	121405769	121405769	G	T	LOX	c.1226C>A	NM_002317.7	NP_002308.2:p.(Ala409Asp)	NC_000005.9:g.121405769G>T	VUS	1 lab	cbb882dd2d
1:55512299 PCSK9 C>T	1	55512299	55512299	C	T	PCSK9	c.503C>T	NM_174936.4	NP_777596.2:p.(Ala168Val)	NC_000001.10:g.55512299C>T	VUS	1 lab	cbbbf551a2
2:47601034 EPCAM A>G	2	47601034	47601034	A	G	EPCAM	c.272A>G	NM_002354.3	NP_002345.2:p.(Asn91Ser)	NC_000002.11:g.47601034A>G	VUS	1 lab	cbbc737208
5:127648481 FBN2 C>T	5	127648481	127648481	C	T	FBN2	c.4724G>A	NM_001999.4	NP_001990.2:p.(Arg1575His)	NC_000005.9:g.127648481C>T	VUS	1 lab	cbc50a84cd
X:48544361 WAS A>C	X	48544361	48544361	A	C	WAS	c.490A>C	NM_000377.3	NP_000368.1:p.(Thr164Pro)	NC_000023.10:g.48544361A>C	(Likely) benign	1 lab	cbc8c35407
8:59407054 CYP7A1 A>G	8	59407054	59407054	A	G	CYP7A1	c.1039+11T>C	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59407054A>G	(Likely) benign	1 lab	cbc91809ac
7:92764068 SAMD9L C>T	7	92764068	92764068	C	T	SAMD9L	c.1217G>A	NM_152703.5	NP_689916.2:p.(Arg406Gln)	NC_000007.13:g.92764068C>T	(Likely) benign	1 lab	cbc946e121
18:24097396 MISSING G>Alt too long to show for this DUP	18	24097396	24473508	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.24097399_24473508dup	VUS	1 lab	cbccbd1731
11:47361997 MYBPC3 T>C	11	47361997	47361997	T	C	MYBPC3	c.1927+557A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361997T>C	(Likely) benign	1 lab	cbcdb6c900
1:55505722 PCSK9 G>A	1	55505722	55505722	G	A	PCSK9	c.207+5G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505722G>A	VUS	1 lab	cbd046a670
11:121416003 SORL1 G>T	11	121416003	121416003	G	T	SORL1	c.1916G>T	NM_003105.6	NP_003096.2:p.(Arg639Leu)	NC_000011.9:g.121416003G>T	VUS	1 lab	cbd20225f5
6:32012755 TNXB G>A	6	32012755	32012755	G	A	TNXB	c.10921+28C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012755G>A	(Likely) benign	1 lab	cbd32620d5
9:107556349 ABCA1 T>C	9	107556349	107556349	T	C	ABCA1	c.5506+319A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556349T>C	(Likely) benign	1 lab	cbd3b80b8f
14:23873547 MYH6 G>A	14	23873547	23873547	G	A	MYH6	c.693C>T	NM_002471.4	NP_002462.2:p.(Phe231=)	NC_000014.8:g.23873547G>A	(Likely) benign	1 lab	cbd4093418
2:219677091 CYP27A1 C>T	2	219677091	219677091	C	T	CYP27A1	c.593C>T	NM_000784.4	NP_000775.1:p.(Ser198Leu)	NC_000002.11:g.219677091C>T	VUS	1 lab	cbd624504b
6:57062081 MISSING Ref too long to show for this DEL>T	6	57062081	57171011	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.57062084_57171011del	VUS	1 lab	cbddfe8efc
8:144296513 GPIHBP1 C>T	8	144296513	144296513	C	T	GPIHBP1	c.182-375C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296513C>T	(Likely) benign	1 lab	cbde29805e
13:75860982 TBC1D4 C>T	13	75860982	75860982	C	T	TBC1D4	c.3843G>A	NM_014832.5	NP_055647.2:p.(Leu1281=)	NC_000013.10:g.75860982C>T	(Likely) benign	1 lab	cbe1d75fd9
14:88431876 GALC C>T	14	88431876	88431876	C	T	GALC	c.1006G>A	NM_000153.4	NP_000144.2:p.(Val336Met)	NC_000014.8:g.88431876C>T	(Likely) benign	1 lab	cbe5c921b1
2:21236091 APOB C>T	2	21236091	21236091	C	T	APOB	c.4157G>A	NM_000384.3	NP_000375.3:p.(Arg1386Gln)	NC_000002.11:g.21236091C>T	VUS	1 lab	cbe808dd5c
2:170136118 LRP2 C>T	2	170136118	170136118	C	T	LRP2	c.1342-13G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170136118C>T	(Likely) benign	1 lab	cbea2f17d0
2:44049998 ABCG5 A>G	2	44049998	44049998	A	G	ABCG5	c.1401T>C	NM_022436.3	NP_071881.1:p.(Tyr467=)	NC_000002.11:g.44049998A>G	(Likely) benign	1 lab	cbeb23fced
18:74806962 MBP T>Alt too long to show for this DUP	18	74806962	74819907	T	Alt too long to show for this DUP	MBP	c.-25-2664_51+10204dup	NM_001025101.2	NP_001020272.1:p.?	NC_000018.9:g.74806964_74819907dup	VUS	1 lab	cbeb4e8ff4
14:21793563 RPGRIP1 AG>A	14	21793563	21793565	AG	A	RPGRIP1	c.2367+23del	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21793565del	VUS	1 lab	cbebd75aaf
10:112541495 RBM20 C>T	10	112541495	112541495	C	T	RBM20	c.1128C>T	NM_001134363.3	NP_001127835.2:p.(Ile376=)	NC_000010.10:g.112541495C>T	(Likely) benign	1 lab	cbefacfe20
9:21802984 MTAP AACACACAC>A	9	21802984	21803036	AACACACAC	A	MTAP	c.33+249_33+256del	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21803029_21803036del	(Likely) benign	1 lab	cbf3db5304
3:32201124 GPD1L C>G	3	32201124	32201124	C	G	GPD1L	c.917C>G	NM_015141.4	NP_055956.1:p.(Ala306Gly)	NC_000003.11:g.32201124C>G	VUS	1 lab	cbf490cb72
7:128489612 FLNC A>G	7	128489612	128489612	A	G	FLNC	c.5179A>G	NM_001458.5	NP_001449.3:p.(Asn1727Asp)	NC_000007.13:g.128489612A>G	VUS	1 lab	cbf923fd33
2:21247910 APOB G>C	2	21247910	21247910	G	C	APOB	c.2331C>G	NM_000384.3	NP_000375.3:p.(Leu777=)	NC_000002.11:g.21247910G>C	(Likely) benign	1 lab	cbfa2b3611
16:57012058 CETP C>T	16	57012058	57012058	C	T	CETP	c.1037C>T	NM_000078.3	NP_000069.2:p.(Pro346Leu)	NC_000016.9:g.57012058C>T	VUS	1 lab	cbfc780754
8:19818769 LPL GCA>G	8	19818769	19818771	GCA	G	LPL	c.1322+176_1322+177del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818770_19818771del	(Likely) benign	1 lab	cbfe873123
16:88809980 PIEZO1 Ref too long to show for this DEL>C	16	88809980	88854816	Ref too long to show for this DEL	C	PIEZO1				NC_000016.9:g.88809983_88854816del	VUS	1 lab	cbff09dd1a
1:181619080 CACNA1E Ref too long to show for this DEL>A	1	181619080	181635954	Ref too long to show for this DEL	A	CACNA1E	c.952-1392_1055+15377del	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181619082_181635954del	VUS	1 lab	cc015ba473
22:24109708 CHCHD10 A>T	22	24109708	24109708	A	T	CHCHD10	c.114T>A	NM_001301339.2	NP_001288268.1:p.(Pro38=)	NC_000022.10:g.24109708A>T	(Likely) benign	1 lab	cc022436f0
5:133948331 SAR1B T>TAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAA	SAR1B	c.244+35_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948357_133948371dup	(Likely) benign	1 lab	cc0907d35f
19:11217306 LDLR C>G	19	11217306	11217306	C	G	LDLR	c.760C>G	NM_000527.5	NP_000518.1:p.(Gln254Glu)	NC_000019.9:g.11217306C>G	VUS	1 lab	cc0ac05cce
16:67974101 LCAT C>G	16	67974101	67974101	C	G	LCAT	c.1029G>C	NM_000229.2	NP_000220.1:p.(Leu343=)	NC_000016.9:g.67974101C>G	(Likely) benign	1 lab	cc0b3af902
13:103515193 ERCC5 A>G	13	103515193	103515193	A	G	ERCC5	c.1694A>G	NM_000123.4	NP_000114.3:p.(Asp565Gly)	NC_000013.10:g.103515193A>G	(Likely) benign	1 lab	cc0fe600c0
2:25064409 ADCY3 G>A	2	25064409	25064409	G	A	ADCY3	c.1068+16C>T	NM_001320613.2	NP_001307542.1:p.?	NC_000002.11:g.25064409G>A	(Likely) benign	1 lab	cc10e71b7c
15:101567544 LRRK1 C>T	15	101567544	101567544	C	T	LRRK1	c.2484C>T	NM_024652.6	NP_078928.3:p.(Asp828=)	NC_000015.9:g.101567544C>T	(Likely) benign	1 lab	cc12526881
4:119674025 SEC24D C>T	4	119674025	119674025	C	T	SEC24D	c.1443G>A	NM_001318066.2	NP_001304995.1:p.(Thr481=)	NC_000004.11:g.119674025C>T	(Likely) benign	1 lab	cc132b2d5c
3:12650847 RAF1 T>TA	3	12650847	12650855	T	TA	RAF1	c.321-14dup	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12650855dup	(Likely) benign	1 lab	cc1c4cecbd
19:1223113 STK11 C>T	19	1223113	1223113	C	T	STK11	c.1050C>T	NM_000455.5	NP_000446.1:p.(Asp350=)	NC_000019.9:g.1223113C>T	(Likely) benign	1 lab	cc1dfbdf51
3:123401347 MYLK G>A	3	123401347	123401347	G	A	MYLK	c.3566-190C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123401347G>A	(Likely) benign	1 lab	cc1ff392fa
2:32379551 SPAST G>A	2	32379551	32379551	G	A	SPAST	c.1837G>A	NM_014946.4	NP_055761.2:p.(Asp613Asn)	NC_000002.11:g.32379551G>A	(Likely) pathogenic	1 lab	cc227df9cb
2:114004383 PAX8 T>G	2	114004383	114004383	T	G	PAX8	c.139A>C	NM_003466.4	NP_003457.1:p.(Ile47Leu)	NC_000002.11:g.114004383T>G	VUS	1 lab	cc259f5943
2:43546869 THADA Ref too long to show for this DEL>G	2	43546869	43573166	Ref too long to show for this DEL	G	THADA	c.4228-1789_4438+715del	NM_022065.5	NP_071348.3:p.?	NC_000002.11:g.43546871_43573166del	VUS	1 lab	cc2604995c
8:24813966 NEFL G>T	8	24813966	24813966	G	T	NEFL	c.64C>A	NM_006158.5	NP_006149.2:p.(Pro22Thr)	NC_000008.10:g.24813966G>T	(Likely) pathogenic	1 lab	cc2a431187
20:32000158 SNTA1 G>A	20	32000158	32000158	G	A	SNTA1	c.984C>T	NM_003098.3	NP_003089.1:p.(Pro328=)	NC_000020.10:g.32000158G>A	(Likely) benign	1 lab	cc32374961
X:128962994 ZDHHC9 C>T	X	128962994	128962994	C	T	ZDHHC9	c.291G>A	NM_001008222.3	NP_001008223.1:p.(Ala97=)	NC_000023.10:g.128962994C>T	(Likely) benign	1 lab	cc355d1d79
18:77475187 CTDP1 TGGA>T	18	77475187	77475208	TGGA	T	CTDP1	c.1746_1748del	NM_004715.5	NP_004706.3:p.(Glu582del)	NC_000018.9:g.77475206_77475208del	(Likely) benign	1 lab	cc3660fc0b
5:59783993 MISSING Ref too long to show for this DEL>G	5	59783993	59848644	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.59783995_59848644del	(Likely) pathogenic	1 lab	cc36689b65
4:73759611 MISSING C>Alt too long to show for this DUP	4	73759611	74062766	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.73759614_74062766dup	VUS	1 lab	cc380a095c
6:32029430 TNXB C>T	6	32029430	32029430	C	T	TNXB	c.7236G>A	NM_019105.8	NP_061978.6:p.(Pro2412=)	NC_000006.11:g.32029430C>T	(Likely) benign	1 lab	cc3df8a293
16:1003427 LMF1 T>C	16	1003427	1003427	T	C	LMF1	c.-52+930A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003427T>C	(Likely) benign	1 lab	cc3e1849ab
7:92132381 PEX1 C>T	7	92132381	92132381	C	T	PEX1	c.1576G>A	NM_001282678.2	NP_001269607.1:p.(Val526Ile)	NC_000007.13:g.92132381C>T	VUS	1 lab	cc3e3c0548
12:50503278 GPD1 G>A	12	50503278	50503278	G	A	GPD1	c.1026G>A	NM_005276.4	NP_005267.2:p.(Leu342=)	NC_000012.11:g.50503278G>A	(Likely) benign	1 lab	cc3f5374a9
2:179604759 TTN G>A	2	179604759	179604759	G	A	TTN	c.12250C>T	NM_001256850.1	NP_001243779.1:p.(Arg4084Trp)	NC_000002.11:g.179604759G>A	VUS	1 lab	cc414cd7b0
16:2506800 CCNF G>A	16	2506800	2506800	G	A	CCNF	c.2140G>A	NM_001761.3	NP_001752.2:p.(Val714Met)	NC_000016.9:g.2506800G>A	(Likely) benign	1 lab	cc41dfac2c
11:116706701 APOA1 G>A	11	116706701	116706701	G	A	APOA1	c.300C>T	NM_001318021.1	NP_001304950.1:p.(Gly100=)	NC_000011.9:g.116706701G>A	(Likely) benign	1 lab	cc43159f86
2:179565893 TTN C>A	2	179565893	179565893	C	A	TTN	c.26904G>T	NM_133378.4	NP_596869.4:p.(Leu8968Phe)	NC_000002.11:g.179565893C>A	VUS	1 lab	cc4558210e
10:55782808 PCDH15 C>T	10	55782808	55782808	C	T	PCDH15	c.2385G>A	NM_001142771.2	NP_001136243.1:p.(Val795=)	NC_000010.10:g.55782808C>T	(Likely) benign	1 lab	cc4633fc7a
7:75933501 HSPB1 C>T	7	75933501	75933501	C	T	HSPB1	c.*11C>T	NM_001540.5	NP_001531.1:p.?	NC_000007.13:g.75933501C>T	(Likely) benign	1 lab	cc47c93c5a
1:10425318 KIF1B G>GT	1	10425318	10425319	G	GT	KIF1B	c.4512+15_4512+16insT	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10425318_10425319insT	(Likely) benign	1 lab	cc484927b2
19:13372399 CACNA1A G>A	19	13372399	13372399	G	A	CACNA1A	c.4127C>T	NM_023035.3	NP_075461.2:p.(Ser1376Leu)	NC_000019.9:g.13372399G>A	(Likely) pathogenic	1 lab	cc4c842575
12:20852546 SLCO1C1 C>T	12	20852546	20852546	C	T	SLCO1C1	c.36C>T	NM_001145946.2	NP_001139418.1:p.(Phe12=)	NC_000012.11:g.20852546C>T	(Likely) benign	1 lab	cc52641e9c
12:88525005 CEP290 T>TA	12	88525005	88525017	T	TA	CEP290	c.442-11dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88525017dup	(Likely) benign	1 lab	cc53e36e88
18:29126293 DSG2 G>A	18	29126293	29126293	G	A	DSG2	c.2944G>A	NM_001943.5	NP_001934.2:p.(Glu982Lys)	NC_000018.9:g.29126293G>A	VUS	1 lab	cc57b76fda
14:76249524 TTLL5 A>C	14	76249524	76249524	A	C	TTLL5	c.2637A>C	NM_015072.5	NP_055887.3:p.(Leu879Phe)	NC_000014.8:g.76249524A>C	(Likely) benign	1 lab	cc597960eb
2:179571639 TTN T>C	2	179571639	179571639	T	C	TTN	c.29084A>G	NM_001267550.2	NP_001254479.2:p.(Asp9695Gly)	NC_000002.11:g.179571639T>C	VUS	1 lab	cc5c3a0ec7
7:100275806 GNB2 G>A	7	100275806	100275806	G	A	GNB2	c.583G>A	NM_005273.4	NP_005264.2:p.(Asp195Asn)	NC_000007.13:g.100275806G>A	(Likely) benign	1 lab	cc5c60d3e2
11:47367763 MYBPC3 CTCT>C	11	47367763	47367772	CTCT	C	MYBPC3	c.1082_1084del	NM_000256.3	NP_000247.2:p.(Lys361del)	NC_000011.9:g.47367770_47367772del	VUS	1 lab	cc5fbae057
2:179599653 TTN G>A	2	179599653	179599653	G	A	TTN	c.14998C>T	NM_001267550.2	NP_001254479.2:p.(Arg5000Cys)	NC_000002.11:g.179599653G>A	(Likely) benign	1 lab	cc60175103
16:1005130 LMF1 T>C	16	1005130	1005130	T	C	LMF1	c.-361-464A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005130T>C	(Likely) benign	1 lab	cc60b747a7
12:122255475 SETD1B A>G	12	122255475	122255475	A	G	SETD1B	c.3177A>G	NM_001353345.2	NP_001340274.1:p.(Ser1059=)	NC_000012.11:g.122255475A>G	(Likely) benign	1 lab	cc618487ca
15:35083509 ACTC1 C>CCACACACACA	15	35083509	35083510	C	CCACACACACA	ACTC1	c.809-14_809-13insTGTGTGTGTG	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083510insCACACACACA	(Likely) benign	1 lab	cc6270d79f
22:50906792 SBF1 GCCC>G	22	50906792	50906797	GCCC	G	SBF1	c.141+10_141+12del	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50906795_50906797del	(Likely) benign	1 lab	cc6274d76b
5:90083881 ADGRV1 C>T	5	90083881	90083881	C	T	ADGRV1	c.13654-7C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90083881C>T	(Likely) benign	1 lab	cc635395ca
2:215652828 MISSING Ref too long to show for this DEL>A	2	215652828	215722772	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.215652829_215722772del	(Likely) pathogenic	1 lab	cc658d2e7c
2:179585681 TTN C>T	2	179585681	179585681	C	T	TTN	c.23065G>A	NM_001267550.2	NP_001254479.2:p.(Asp7689Asn)	NC_000002.11:g.179585681C>T	VUS	1 lab	cc72d8b644
8:100844596 VPS13B G>GTTTTTTTTTTTTTTTTTTTTTTTTTT	8	100844596	100844598	G	GTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406_9407insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.(Tyr3136PhefsTer30)	NC_000008.10:g.100844597_100844598insTTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	cc664d160f
12:122255496 SETD1B CAAG>C	12	122255496	122255499	CAAG	C	SETD1B	c.3199_3201del	NM_001353345.2	NP_001340274.1:p.(Lys1067del)	NC_000012.11:g.122255497_122255499del	(Likely) benign	1 lab	cc67c41899
17:48272948 COL1A1 C>T	17	48272948	48272948	C	T	COL1A1	c.1135G>A	NM_000088.4	NP_000079.2:p.(Ala379Thr)	NC_000017.10:g.48272948C>T	VUS	1 lab	cc684fd68b
20:13090745 SPTLC3 G>C	20	13090745	13090745	G	C	SPTLC3	c.827-14G>C	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13090745G>C	(Likely) benign	1 lab	cc69d1a3a7
12:110605652 IFT81 CTTTTT>C	12	110605652	110605669	CTTTTT	C	IFT81	c.1188+4795_1188+4799del	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110605665_110605669del	(Likely) benign	1 lab	cc6ae15ab1
10:111631563 XPNPEP1 C>T	10	111631563	111631563	C	T	XPNPEP1	c.1509G>A	NM_020383.4	NP_065116.3:p.(Pro503=)	NC_000010.10:g.111631563C>T	(Likely) benign	1 lab	cc6ae2283a
9:137707691 COL5A1 T>C	9	137707691	137707691	T	C	COL5A1	c.4069-90T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137707691T>C	(Likely) benign	1 lab	cc6b1ff177
12:122261070 SETD1B A>G	12	122261070	122261070	A	G	SETD1B	c.4585A>G	NM_001353345.2	NP_001340274.1:p.(Met1529Val)	NC_000012.11:g.122261070A>G	(Likely) benign	1 lab	cc6cf21e7a
15:66729163 MAP2K1 C>T	15	66729163	66729163	C	T	MAP2K1	c.371C>T	NM_002755.4	NP_002746.1:p.(Pro124Leu)	NC_000015.9:g.66729163C>T	(Likely) pathogenic	1 lab	cc6eff9852
2:21234006 APOB T>A	2	21234006	21234006	T	A	APOB	c.5734A>T	NM_000384.3	NP_000375.3:p.(Asn1912Tyr)	NC_000002.11:g.21234006T>A	VUS	1 lab	cc6f76ace3
5:147372428 MISSING C>Alt too long to show for this DUP	5	147372428	147466027	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.147372430_147466027dup	VUS	1 lab	cd61454a1a
16:920675 LMF1 G>C	16	920675	920675	G	C	LMF1	c.833+54C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920675G>C	(Likely) benign	1 lab	cc726a377b
2:179411503 TTN A>T	2	179411503	179411503	A	T	TTN	c.94652T>A	NM_001267550.2	NP_001254479.2:p.(Val31551Glu)	NC_000002.11:g.179411503A>T	VUS	1 lab	cc7380e17f
18:21124908 NPC1 C>CCG	18	21124908	21124910	C	CCG	NPC1	c.1947+15_1947+16insCG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124909_21124910insGC	(Likely) benign	1 lab	cc73c8e595
18:19444628 MIB1 C>G	18	19444628	19444628	C	G	MIB1	c.*1C>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19444628C>G	VUS	1 lab	cc74b0a667
5:149509523 PDGFRB C>T	5	149509523	149509523	C	T	PDGFRB	c.1376G>A	NM_002609.4	NP_002600.1:p.(Arg459His)	NC_000005.9:g.149509523C>T	(Likely) benign	1 lab	cc74b0d7ac
11:66512290 TOP6BL G>GGGCGGC	11	66512290	66512316	G	GGGCGGC	TOP6BL	c.98_103dup	NM_024650.3	NP_078926.3:p.(Ala33_Ala34dup)	NC_000011.9:g.66512311_66512316dup	(Likely) benign	1 lab	cc751d3326
12:117977621 KSR2 G>A	12	117977621	117977621	G	A	KSR2	c.1590C>T	NM_173598.6	NP_775869.4:p.(Ser530=)	NC_000012.11:g.117977621G>A	(Likely) benign	1 lab	cc75acf832
10:3810623 MISSING Ref too long to show for this DEL>T	10	3810623	3844351	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.3810624_3844351del	VUS	1 lab	cc771a9f8a
15:23685225 GOLGA6L2 T>TG	15	23685225	23685226	T	TG	GOLGA6L2	c.2396dup	NM_001304388.2	NP_001291317.1:p.(Gly800ArgfsTer113)	NC_000015.9:g.23685226dup	(Likely) benign	1 lab	cc797547ac
8:134472167 ST3GAL1 C>T	8	134472167	134472167	C	T	ST3GAL1	c.863G>A	NM_003033.4	NP_003024.1:p.(Gly288Asp)	NC_000008.10:g.134472167C>T	VUS	1 lab	cc7e9d3289
12:21358877 SLCO1B1 A>G	12	21358877	21358877	A	G	SLCO1B1	c.1407A>G	NM_006446.5	NP_006437.3:p.(Gln469=)	NC_000012.11:g.21358877A>G	(Likely) benign	1 lab	cc811e08d3
7:128494326 FLNC C>T	7	128494326	128494326	C	T	FLNC	c.6727+56C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128494326C>T	(Likely) benign	1 lab	cc82edbfbf
16:88800477 PIEZO1 G>A	16	88800477	88800477	G	A	PIEZO1	c.2181-15C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88800477G>A	(Likely) benign	1 lab	cc8669fd63
12:48372127 COL2A1 C>T	12	48372127	48372127	C	T	COL2A1	c.2950G>A	NM_001844.5	NP_001835.3:p.(Gly984Ser)	NC_000012.11:g.48372127C>T	(Likely) pathogenic	1 lab	cc877469ef
17:41267806 BRCA1 TA>T	17	41267806	41267807	TA	T	BRCA1	c.81-11del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267807del	(Likely) benign	1 lab	cc8832e778
22:36683245 MYH9 Ref too long to show for this DEL>G	22	36683245	36782457	Ref too long to show for this DEL	G	MYH9	c.-20+1395_4933-354del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36683246_36782457del	VUS	1 lab	cc8d9ca965
7:94053627 COL1A2 C>G	7	94053627	94053627	C	G	COL1A2	c.2566-21C>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94053627C>G	(Likely) benign	1 lab	cc8fab42fe
18:34349270 FHOD3 A>G	18	34349270	34349270	A	G	FHOD3	c.4667A>G	NM_001281740.3	NP_001268669.1:p.(Asn1556Ser)	NC_000018.9:g.34349270A>G	VUS	1 lab	cc9088bbed
11:47356143 MYBPC3 A>G	11	47356143	47356143	A	G	MYBPC3	c.2905+450T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356143A>G	(Likely) benign	1 lab	cc93139f9a
2:238256488 COL6A3 T>G	2	238256488	238256488	T	G	COL6A3	c.6991A>C	NM_004369.4	NP_004360.2:p.(Asn2331His)	NC_000002.11:g.238256488T>G	VUS	1 lab	cc94c8b9c4
3:32188181 GPD1L C>G	3	32188181	32188181	C	G	GPD1L	c.573C>G	NM_015141.4	NP_055956.1:p.(Thr191=)	NC_000003.11:g.32188181C>G	(Likely) benign	1 lab	cc98261be5
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	cc9a684014
2:179612166 TTN AAACTGATCT>A	2	179612166	179612179	AAACTGATCT	A	TTN	c.14952_14960del	NM_133379.5	NP_596870.2:p.(Leu4984_Gln4986del)	NC_000002.11:g.179612171_179612179del	(Likely) benign	1 lab	cc9a9ab3a8
3:38622667 SCN5A G>C	3	38622667	38622667	G	C	SCN5A	c.2983C>G	NM_198056.3	NP_932173.1:p.(Leu995Val)	NC_000003.11:g.38622667G>C	VUS	1 lab	cc9b9d6f87
7:128489503 FLNC C>T	7	128489503	128489503	C	T	FLNC	c.5070C>T	NM_001458.5	NP_001449.3:p.(Leu1690=)	NC_000007.13:g.128489503C>T	(Likely) benign	1 lab	cc9fc7e95a
16:904995 LMF1 G>A	16	904995	904995	G	A	LMF1	c.1131-289C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.904995G>A	(Likely) benign	1 lab	cca9f0cafa
2:179397561 TTN C>T	2	179397561	179397561	C	T	TTN	c.103781G>A	NM_001267550.2	NP_001254479.2:p.(Arg34594His)	NC_000002.11:g.179397561C>T	(Likely) benign	1 lab	ccaee37c87
14:23898246 MYH7 C>G	14	23898246	23898246	C	G	MYH7	c.1325G>C	NM_000257.4	NP_000248.2:p.(Arg442Pro)	NC_000014.8:g.23898246C>G	VUS	1 lab	ccaf6477df
7:65474518 MISSING C>Alt too long to show for this DUP	7	65474518	65599668	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.65474519_65599668dup	VUS	1 lab	ccb674ab77
13:50158689 MISSING Ref too long to show for this DEL>T	13	50158689	50296777	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.50158690_50296777del	(Likely) pathogenic	1 lab	ccb7218cee
22:21808949 MISSING Ref too long to show for this DEL>C	22	21808949	22971897	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21808950_22971897del	(Likely) pathogenic	1 lab	ccb866ebb1
19:41350672 CYP2A6 G>A	19	41350672	41350672	G	A	CYP2A6	c.1167C>T	NM_000762.6	NP_000753.3:p.(Thr389=)	NC_000019.9:g.41350672G>A	(Likely) benign	1 lab	ccb90d570c
8:133141707 KCNQ3 G>A	8	133141707	133141707	G	A	KCNQ3	c.2421C>T	NM_004519.4	NP_004510.1:p.(Phe807=)	NC_000008.10:g.133141707G>A	(Likely) benign	1 lab	ccbbe7fa67
6:32551947 HLA-DRB1 C>T	6	32551947	32551947	C	T	HLA-DRB1	c.309G>A	NM_002124.4	NP_002115.2:p.(Ala103=)	NC_000006.11:g.32551947C>T	(Likely) benign	1 lab	ccbc6ab1f3
17:48243402 SGCA A>G	17	48243402	48243402	A	G	SGCA	n.37A>G	NR_135553.2		NC_000017.10:g.48243402A>G	(Likely) pathogenic	1 lab	ccc27c3ae3
18:47101927 LIPG C>T	18	47101927	47101927	C	T	LIPG	c.760C>T	NM_006033.4	NP_006024.1:p.(Leu254Phe)	NC_000018.9:g.47101927C>T	VUS	1 lab	ccc6238b40
11:95578270 MTMR2 C>A	11	95578270	95578270	C	A	MTMR2	c.1017G>T	NM_001243571.2	NP_001230500.1:p.(Thr339=)	NC_000011.9:g.95578270C>A	(Likely) benign	1 lab	ccc7c5335f
2:179566951 TTN C>T	2	179566951	179566951	C	T	TTN	c.30455G>A	NM_001267550.2	NP_001254479.2:p.(Arg10152Gln)	NC_000002.11:g.179566951C>T	VUS	1 lab	cccd2c726a
7:100855841 PLOD3 G>A	7	100855841	100855841	G	A	PLOD3	c.975C>T	NM_001084.5	NP_001075.1:p.(Pro325=)	NC_000007.13:g.100855841G>A	(Likely) benign	1 lab	ccd2b0d781
15:43687288 TUBGCP4 G>C	15	43687288	43687288	G	C	TUBGCP4	c.1015-17G>C	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43687288G>C	(Likely) benign	1 lab	ccd35ce579
16:66957436 RRAD C>T	16	66957436	66957436	C	T	RRAD	c.632G>A	NM_001128850.2	NP_001122322.1:p.(Arg211His)	NC_000016.9:g.66957436C>T	(Likely) pathogenic	1 lab	ccd4ef9f66
2:21230612 APOB G>A	2	21230612	21230612	G	A	APOB	c.9128C>T	NM_000384.3	NP_000375.3:p.(Pro3043Leu)	NC_000002.11:g.21230612G>A	VUS	1 lab	ccd6390a4b
13:52987015 MISSING A>Alt too long to show for this DUP	13	52987015	53053857	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.52987017_53053857dup	VUS	1 lab	ccd9a3cf69
3:195997297 PCYT1A G>A	3	195997297	195997297	G	A	PCYT1A	c.106C>T	NM_005017.4	NP_005008.2:p.(Arg36Cys)	NC_000003.11:g.195997297G>A	VUS	1 lab	ccdbd1e339
X:32429977 DMD A>G	X	32429977	32429977	A	G	DMD	c.4125T>C	NM_004006.3	NP_003997.2:p.(Thr1375=)	NC_000023.10:g.32429977A>G	(Likely) benign	1 lab	ccdcbed066
17:27861259 TAOK1 C>T	17	27861259	27861259	C	T	TAOK1	c.2485C>T	NM_020791.4	NP_065842.1:p.(Arg829Ter)	NC_000017.10:g.27861259C>T	(Likely) pathogenic	1 lab	cce0469587
3:38607837 SCN5A G>A	3	38607837	38607837	G	A	SCN5A	c.3840+63C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38607837G>A	(Likely) benign	1 lab	cce0bcbbc8
11:2608789 KCNQ1 C>T	11	2608789	2608789	C	T	KCNQ1	c.1129-11C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2608789C>T	(Likely) benign	1 lab	cce35af9d8
6:112506525 LAMA4 G>A	6	112506525	112506525	G	A	LAMA4	c.970C>T	NM_002290.5	NP_002281.3:p.(Gln324Ter)	NC_000006.11:g.112506525G>A	VUS	1 lab	cce536a421
15:35083509 ACTC1 C>CCA	15	35083509	35083510	C	CCA	ACTC1	c.809-14_809-13insTG	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083510insCA	(Likely) benign	1 lab	cce8f8caa7
12:50500381 GPD1 A>T	12	50500381	50500381	A	T	GPD1	c.499+172A>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500381A>T	(Likely) benign	1 lab	cce9571c7d
6:56352036 DST G>A	6	56352036	56352036	G	A	DST	c.14556C>T	NM_001144769.5	NP_001138241.1:p.(Val4852=)	NC_000006.11:g.56352036G>A	(Likely) benign	1 lab	ccea4e85cd
1:55523134 PCSK9 G>A	1	55523134	55523134	G	A	PCSK9	c.1127G>A	NM_174936.4	NP_777596.2:p.(Ser376Asn)	NC_000001.10:g.55523134G>A	VUS	1 lab	cceba36a61
2:21229757 APOB TG>T	2	21229757	21229759	TG	T	APOB	c.9982del	NM_000384.3	NP_000375.3:p.(His3328IlefsTer23)	NC_000002.11:g.21229759del	(Likely) pathogenic	1 lab	ccec4c6be4
20:21106804 KIZ C>T	20	21106804	21106804	C	T	KIZ	c.48C>T	NM_018474.6	NP_060944.3:p.(Tyr16=)	NC_000020.10:g.21106804C>T	(Likely) benign	1 lab	ccee0af63a
4:128842742 MFSD8 G>A	4	128842742	128842742	G	A	MFSD8	c.1287C>T	NM_152778.3	NP_689991.1:p.(Gly429=)	NC_000004.11:g.128842742G>A	(Likely) benign	1 lab	ccee2e9f81
X:56590738 UBQLN2 G>T	X	56590738	56590738	G	T	UBQLN2	c.432G>T	NM_013444.4	NP_038472.2:p.(Gly144=)	NC_000023.10:g.56590738G>T	(Likely) benign	1 lab	ccf38a8c4e
8:35427261 UNC5D Ref too long to show for this DEL>T	8	35427261	35503153	Ref too long to show for this DEL	T	UNC5D	c.466+1503_571-37912del	NM_080872.4	NP_543148.2:p.?	NC_000008.10:g.35427262_35503153del	VUS	1 lab	ccf47ae5c5
6:7566882 DSP CCAGA>C	6	7566882	7566888	CCAGA	C	DSP	c.1044+171_1044+174del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566885_7566888del	(Likely) benign	1 lab	ccf897ae8f
2:179605553 TTN C>T	2	179605553	179605553	C	T	TTN	c.12407G>A	NM_001267550.2	NP_001254479.2:p.(Gly4136Asp)	NC_000002.11:g.179605553C>T	VUS	1 lab	ccf93d9e7e
17:66397521 ARSG C>T	17	66397521	66397521	C	T	ARSG	c.1233C>T	NM_014960.5	NP_055775.2:p.(Ser411=)	NC_000017.10:g.66397521C>T	(Likely) benign	1 lab	ccfb5f5c9f
11:67225168 CABP4 G>A	11	67225168	67225168	G	A	CABP4	c.336+15G>A	NM_001300895.3	NP_001287824.1:p.?	NC_000011.9:g.67225168G>A	VUS	1 lab	ccfecb0763
2:189864537 COL3A1 G>A	2	189864537	189864537	G	A	COL3A1	c.2230-31G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864537G>A	(Likely) benign	1 lab	cd01e90bba
11:65824765 SF3B2 C>T	11	65824765	65824765	C	T	SF3B2	c.696C>T	NM_006842.3	NP_006833.2:p.(Pro232=)	NC_000011.9:g.65824765C>T	(Likely) benign	1 lab	cd01eaf863
1:25893400 LDLRAP1 C>A	1	25893400	25893400	C	A	LDLRAP1	c.844C>A	NM_015627.3	NP_056442.2:p.(His282Asn)	NC_000001.10:g.25893400C>A	VUS	1 lab	cd02d0c05b
2:15506882 NBAS C>G	2	15506882	15506882	C	G	NBAS	c.3704-65G>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15506882C>G	(Likely) benign	1 lab	cd08a26b95
7:138603496 KIAA1549 C>T	7	138603496	138603496	C	T	KIAA1549	c.876G>A	NM_020910.3	NP_065961.2:p.(Pro292=)	NC_000007.13:g.138603496C>T	(Likely) benign	1 lab	cd09bcf9f9
5:172660508 NKX2-5 CAA>C	5	172660508	172660522	CAA	C	NKX2-5	c.335-6_335-5del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660521_172660522del	(Likely) benign	1 lab	cd0a29ed6b
2:179468664 TTN A>G	2	179468664	179468664	A	G	TTN	c.54750T>C	NM_001267550.2	NP_001254479.2:p.(Asn18250=)	NC_000002.11:g.179468664A>G	(Likely) benign	1 lab	cd0c6f61e7
3:57893682 SLMAP G>A	3	57893682	57893682	G	A	SLMAP	c.1522G>A	NM_001304420.3	NP_001291349.1:p.(Glu508Lys)	NC_000003.11:g.57893682G>A	VUS	1 lab	cd0f412b96
15:77025743 SCAPER A>G	15	77025743	77025743	A	G	SCAPER	c.1885-18T>C	NM_001353009.2	NP_001339938.1:p.?	NC_000015.9:g.77025743A>G	(Likely) benign	1 lab	cd15a4b49d
19:8999552 MUC16 A>C	19	8999552	8999552	A	C	MUC16	c.40623T>G	NM_024690.2	NP_078966.2:p.(Asp13541Glu)	NC_000019.9:g.8999552A>C	(Likely) benign	1 lab	cd15b572bd
13:29274754 SLC46A3 Ref too long to show for this DEL>G	13	29274754	29287174	Ref too long to show for this DEL	G	SLC46A3	c.703_*879del	NM_181785.4	NP_861450.1:p.(Ser235_Arg461delinsLeuAlaGluAsnSerAlaSerSerLeuSerTyrProAlaValValTyrProCysSerIleIleAsnThrAlaLysGlyIlePheLysIleArgSerCysThrProTer)	NC_000013.10:g.29274755_29287174del	VUS	1 lab	cd1619e596
12:122255296 SETD1B C>T	12	122255296	122255296	C	T	SETD1B	c.2998C>T	NM_001353345.2	NP_001340274.1:p.(Arg1000Trp)	NC_000012.11:g.122255296C>T	(Likely) benign	1 lab	cd16c4ac12
3:37845391 ITGA9 G>A	3	37845391	37845391	G	A	ITGA9	c.2967G>A	NM_002207.3	NP_002198.2:p.(Val989=)	NC_000003.11:g.37845391G>A	(Likely) benign	1 lab	cd188a807a
1:43295737 MISSING Ref too long to show for this DEL>C	1	43295737	43578547	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.43295738_43578547del	(Likely) pathogenic	1 lab	cd1a936b5e
1:55509622 PCSK9 G>A	1	55509622	55509622	G	A	PCSK9	c.314G>A	NM_174936.4	NP_777596.2:p.(Arg105Gln)	NC_000001.10:g.55509622G>A	VUS	1 lab	cd1d3b5b00
X:153296470 MECP2 CG>C	X	153296470	153296472	CG	C	MECP2	c.529del	NM_001369391.2	NP_001356320.1:p.(Arg177GlufsTer19)	NC_000023.10:g.153296472del	(Likely) pathogenic	1 lab	cd1de30a72
22:50962259 NCAPH2 G>A	22	50962259	50962259	G	A	NCAPH2	c.*455G>A	NM_001185011.2	NP_001171940.1:p.?	NC_000022.10:g.50962259G>A	(Likely) benign	1 lab	cd1e7483aa
19:11215960 LDLR C>G	19	11215960	11215960	C	G	LDLR	c.378C>G	NM_000527.5	NP_000518.1:p.(Phe126Leu)	NC_000019.9:g.11215960C>G	VUS	1 lab	cd2227edfe
7:122064218 CADPS2 Ref too long to show for this DEL>C	7	122064218	122069406	Ref too long to show for this DEL	C	CADPS2	c.2476+8989_2477-8001del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122064219_122069406del	VUS	1 lab	cd231b8973
17:66339947 ARSG C>T	17	66339947	66339947	C	T	ARSG	c.406+15C>T	NM_001352903.2	NP_001339832.1:p.?	NC_000017.10:g.66339947C>T	(Likely) benign	1 lab	cd27fabc90
1:228480483 OBSCN CAG>C	1	228480483	228480485	CAG	C	OBSCN	c.12151_12152del	NM_001271223.2	NP_001258152.2:p.(Arg4051GlyfsTer26)	NC_000001.10:g.228480484_228480485del	VUS	1 lab	cd284970a6
17:37821737 TCAP G>C	17	37821737	37821737	G	C	TCAP	c.110+15G>C	NM_003673.4	NP_003664.1:p.?	NC_000017.10:g.37821737G>C	(Likely) benign	1 lab	cd2e319b74
8:19813573 LPL C>T	8	19813573	19813573	C	T	LPL	c.997C>T	NM_000237.3	NP_000228.1:p.(Arg333Cys)	NC_000008.10:g.19813573C>T	(Likely) pathogenic	1 lab	cd2febc4c9
12:77419341 E2F7 A>T	12	77419341	77419341	A	T	E2F7	c.2562T>A	NM_203394.3	NP_976328.2:p.(His854Gln)	NC_000012.11:g.77419341A>T	(Likely) benign	1 lab	cd300184a2
1:55525353 PCSK9 G>A	1	55525353	55525353	G	A	PCSK9	c.1681+17G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525353G>A	(Likely) benign	1 lab	cd305f74ca
10:92678696 ANKRD1 C>G	10	92678696	92678696	C	G	ANKRD1	c.379G>C	NM_014391.3	NP_055206.2:p.(Ala127Pro)	NC_000010.10:g.92678696C>G	VUS	1 lab	cd3372a747
19:11218206 LDLR G>A	19	11218206	11218206	G	A	LDLR	c.940+16G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218206G>A	(Likely) benign	1 lab	cd3561fb5b
11:65308501 LTBP3 C>T	11	65308501	65308501	C	T	LTBP3	c.2894-76G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308501C>T	(Likely) benign	1 lab	cd35eb56fa
16:2125837 TSC2 C>T	16	2125837	2125837	C	T	TSC2	c.2583C>T	NM_000548.5	NP_000539.2:p.(Ala861=)	NC_000016.9:g.2125837C>T	(Likely) benign	1 lab	cd37a0980e
15:58830550 LIPC C>A	15	58830550	58830550	C	A	LIPC	c.107C>A	NM_000236.3	NP_000227.2:p.(Ala36Asp)	NC_000015.9:g.58830550C>A	VUS	1 lab	cd3afd6778
22:19470326 CDC45 C>T	22	19470326	19470326	C	T	CDC45	c.318C>T	NM_001178010.2	NP_001171481.1:p.(Val106=)	NC_000022.10:g.19470326C>T	VUS	1 lab	cd3bff2b5d
2:21225355 APOB G>A	2	21225355	21225355	G	A	APOB	c.12939C>T	NM_000384.3	NP_000375.3:p.(Asn4313=)	NC_000002.11:g.21225355G>A	(Likely) benign	1 lab	cd3e14365e
2:179489419 TTN G>C	2	179489419	179489419	G	C	TTN	c.44588C>G	NM_001267550.2	NP_001254479.2:p.(Thr14863Arg)	NC_000002.11:g.179489419G>C	VUS	1 lab	cd3f5e521d
6:32029915 TNXB G>T	6	32029915	32029915	G	T	TNXB	c.7168+19C>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32029915G>T	(Likely) benign	1 lab	cd42086e3b
9:111665215 ELP1 A>C	9	111665215	111665215	A	C	ELP1	c.1758T>G	NM_003640.5	NP_003631.2:p.(Pro586=)	NC_000009.11:g.111665215A>C	(Likely) benign	1 lab	cd4481e085
17:48273128 COL1A1 T>C	17	48273128	48273128	T	C	COL1A1	c.1057-102A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273128T>C	(Likely) benign	1 lab	cd44fb07ad
12:21331537 SLCO1B1 T>C	12	21331537	21331537	T	C	SLCO1B1	c.509T>C	NM_006446.5	NP_006437.3:p.(Met170Thr)	NC_000012.11:g.21331537T>C	(Likely) benign	1 lab	cd467d3ebf
2:179423075 TTN C>T	2	179423075	179423075	C	T	TTN	c.87111G>A	NM_001267550.2	NP_001254479.2:p.(Glu29037=)	NC_000002.11:g.179423075C>T	(Likely) benign	1 lab	cd48f1b804
9:27220094 TEK C>T	9	27220094	27220094	C	T	TEK	c.3151C>T	NM_000459.5	NP_000450.3:p.(Leu1051=)	NC_000009.11:g.27220094C>T	(Likely) benign	1 lab	cd497f71c3
19:11222285 LDLR G>T	19	11222285	11222285	G	T	LDLR	c.1156G>T	NM_000527.5	NP_000518.1:p.(Asp386Tyr)	NC_000019.9:g.11222285G>T	VUS	1 lab	cd4a88b2c9
17:15151307 PMP22 G>A	17	15151307	15151307	G	A	PMP22	c.179-8379C>T	NM_001281456.2	NP_001268385.1:p.?	NC_000017.10:g.15151307G>A	(Likely) benign	1 lab	cd4b460e2f
1:3328117 PRDM16 G>A	1	3328117	3328117	G	A	PRDM16	c.1356G>A	NM_022114.4	NP_071397.3:p.(Thr452=)	NC_000001.10:g.3328117G>A	(Likely) benign	1 lab	cd4f93e2d0
4:100521604 MTTP T>TA	4	100521604	100521614	T	TA	MTTP	c.1068-108dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521614dup	(Likely) benign	1 lab	cd5336c006
12:111894072 ATXN2 C>T	12	111894072	111894072	C	T	ATXN2	c.3037-12G>A	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.111894072C>T	(Likely) benign	1 lab	cd535fd80f
18:34229325 FHOD3 G>A	18	34229325	34229325	G	A	FHOD3	c.1243G>A	NM_001281740.3	NP_001268669.1:p.(Glu415Lys)	NC_000018.9:g.34229325G>A	(Likely) benign	1 lab	cd5e14874a
16:88791458 PIEZO1 G>A	16	88791458	88791458	G	A	PIEZO1	c.4193C>T	NM_001142864.4	NP_001136336.2:p.(Pro1398Leu)	NC_000016.9:g.88791458G>A	(Likely) benign	1 lab	cd6588a920
10:90974786 LIPA C>T	10	90974786	90974786	C	T	LIPA	c.999G>A	NM_000235.4	NP_000226.2:p.(Met333Ile)	NC_000010.10:g.90974786C>T	(Likely) pathogenic	1 lab	cd663fb6da
3:6963756 GRM7 A>Alt too long to show for this DUP	3	6963756	7341121	A	Alt too long to show for this DUP	GRM7	c.519+60164_878+609dup	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.6963758_7341121dup	VUS	1 lab	cd67a87c7d
18:29111042 DSG2 G>GC	18	29111042	29111044	G	GC	DSG2	c.1109dup	NM_001943.5	NP_001934.2:p.(Thr371TyrfsTer19)	NC_000018.9:g.29111044dup	VUS	1 lab	cd6b601545
9:5919837 BRD10 G>C	9	5919837	5919837	G	C	BRD10	c.6159C>G	NM_001017969.3	NP_001017969.2:p.(Ala2053=)	NC_000009.11:g.5919837G>C	(Likely) benign	1 lab	cd70d65bb7
11:88911737 TYR G>A	11	88911737	88911737	G	A	TYR	c.616G>A	NM_000372.5	NP_000363.1:p.(Ala206Thr)	NC_000011.9:g.88911737G>A	(Likely) pathogenic	1 lab	cd71466d4f
12:89864139 POC1B G>GT	12	89864139	89864140	G	GT	POC1B	c.808dup	NM_172240.3	NP_758440.1:p.(Thr270AsnfsTer31)	NC_000012.11:g.89864140dup	(Likely) pathogenic	1 lab	cd7299e78a
11:128781442 KCNJ5 G>A	11	128781442	128781442	G	A	KCNJ5	c.274G>A	NM_000890.5	NP_000881.3:p.(Val92Ile)	NC_000011.9:g.128781442G>A	VUS	1 lab	cd73c0364c
16:70884561 HYDIN G>C	16	70884561	70884561	G	C	HYDIN	c.12444-3C>G	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70884561G>C	VUS	1 lab	cd765ecaca
15:48795731 FBN1 G>A	15	48795731	48795731	G	A	FBN1	c.2113+253C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48795731G>A	(Likely) benign	1 lab	cd789846b1
11:63396818 ATL3 T>C	11	63396818	63396818	T	C	ATL3	c.1599A>G	NM_015459.5	NP_056274.3:p.(Arg533=)	NC_000011.9:g.63396818T>C	(Likely) benign	1 lab	cd78b70d8e
11:76829323 CAPN5 G>A	11	76829323	76829323	G	A	CAPN5	c.1092G>A	NM_004055.5	NP_004046.2:p.(Thr364=)	NC_000011.9:g.76829323G>A	(Likely) benign	1 lab	cd791966bc
4:100534150 MTTP T>G	4	100534150	100534150	T	G	MTTP	c.2070T>G	NM_000253.4	NP_000244.2:p.(Ala690=)	NC_000004.11:g.100534150T>G	(Likely) benign	1 lab	cd7a42688f
12:173786 MISSING G>Alt too long to show for this DUP	12	173786	266805	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.173788_266805dup	VUS	1 lab	cd7bad8aef
1:185891496 HMCN1 A>G	1	185891496	185891496	A	G	HMCN1	c.901-15A>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185891496A>G	(Likely) benign	1 lab	cd7c06ee3c
19:11201988 LDLR GT>G	19	11201988	11201991	GT	G	LDLR	c.67+1700del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11201991del	(Likely) benign	1 lab	cd7dafc99f
4:114176993 ANK2 T>C	4	114176993	114176993	T	C	ANK2	c.1093T>C	NM_001148.6	NP_001139.3:p.(Tyr365His)	NC_000004.11:g.114176993T>C	VUS	1 lab	cd7e424243
1:55524248 PCSK9 C>T	1	55524248	55524248	C	T	PCSK9	c.1431C>T	NM_174936.4	NP_777596.2:p.(Cys477=)	NC_000001.10:g.55524248C>T	(Likely) benign	1 lab	cd7ed71f78
Y:9366666 TSPY10 CGAAGAT>C	Y	9366666	9366677	CGAAGAT	C	TSPY10	c.531_536del	NM_001282469.3	NP_001269398.1:p.(Glu178_Asp179del)	NC_000024.9:g.9366672_9366677del	(Likely) benign	1 lab	cd7eede703
2:21245843 APOB C>T	2	21245843	21245843	C	T	APOB	c.2676G>A	NM_000384.3	NP_000375.3:p.(Pro892=)	NC_000002.11:g.21245843C>T	(Likely) benign	1 lab	cd7f06169e
5:41376693 PLCXD3 Ref too long to show for this DEL>C	5	41376693	41465490	Ref too long to show for this DEL	C	PLCXD3	c.103+45040_812+5234del	NM_001005473.3	NP_001005473.1:p.?	NC_000005.9:g.41376698_41465490del	VUS	1 lab	cd8188e215
2:179505362 TTN A>C	2	179505362	179505362	A	C	TTN	c.40634-5T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179505362A>C	(Likely) benign	1 lab	cd85bdf471
19:11226885 LDLR C>G	19	11226885	11226885	C	G	LDLR	c.1702C>G	NM_000527.5	NP_000518.1:p.(Leu568Val)	NC_000019.9:g.11226885C>G	(Likely) pathogenic	1 lab	cd8882d33a
16:57017662 CETP G>A	16	57017662	57017662	G	A	CETP	c.*84G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017662G>A	(Likely) benign	1 lab	cd88d377e5
2:73762055 ALMS1 A>G	2	73762055	73762055	A	G	ALMS1	c.9889A>G	NM_015120.4	NP_055935.4:p.(Thr3297Ala)	NC_000002.11:g.73762055A>G	(Likely) benign	1 lab	cd8d5dd021
10:18429776 CACNB2 C>A	10	18429776	18429776	C	A	CACNB2	c.111C>A	NM_201596.3	NP_963890.2:p.(Ala37=)	NC_000010.10:g.18429776C>A	(Likely) benign	1 lab	cd8f2435a7
8:10470180 RP1L1 C>T	8	10470180	10470180	C	T	RP1L1	c.1428G>A	NM_178857.6	NP_849188.4:p.(Pro476=)	NC_000008.10:g.10470180C>T	(Likely) benign	1 lab	cd8fb6831b
5:64103562 CWC27 C>T	5	64103562	64103562	C	T	CWC27	c.1075C>T	NM_001297645.2	NP_001284574.1:p.(Arg359Cys)	NC_000005.9:g.64103562C>T	(Likely) benign	1 lab	cd9003c485
1:25881506 LDLRAP1 G>A	1	25881506	25881506	G	A	LDLRAP1	c.344+43G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25881506G>A	(Likely) benign	1 lab	cd9382fcc1
18:47091758 LIPG A>G	18	47091758	47091758	A	G	LIPG	c.169A>G	NM_006033.4	NP_006024.1:p.(Lys57Glu)	NC_000018.9:g.47091758A>G	VUS	1 lab	cd93f2547e
1:237969446 RYR2 T>C	1	237969446	237969446	T	C	RYR2	c.14161T>C	NM_001035.3	NP_001026.2:p.(Tyr4721His)	NC_000001.10:g.237969446T>C	(Likely) pathogenic	1 lab	cd94391bfa
1:225346138 DNAH14 Ref too long to show for this DEL>G	1	225346138	225357227	Ref too long to show for this DEL	G	DNAH14	c.5274-876_5535+1497del	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225346140_225357227del	VUS	1 lab	cd9473977b
6:152560746 SYNE1 A>G	6	152560746	152560746	A	G	SYNE1	c.19989T>C	NM_182961.4	NP_892006.3:p.(His6663=)	NC_000006.11:g.152560746A>G	(Likely) benign	1 lab	cd94a0ea74
11:68679021 IGHMBP2 A>G	11	68679021	68679021	A	G	IGHMBP2	c.661A>G	NM_002180.3	NP_002171.2:p.(Thr221Ala)	NC_000011.9:g.68679021A>G	(Likely) pathogenic	1 lab	cd95e29012
10:43620388 RET G>A	10	43620388	43620388	G	A	RET	c.2997G>A	NM_020975.6	NP_066124.1:p.(Ala999=)	NC_000010.10:g.43620388G>A	(Likely) benign	1 lab	cd95fded61
6:123892296 TRDN A>C	6	123892296	123892296	A	C	TRDN	c.23-19T>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123892296A>C	(Likely) benign	1 lab	cd97a02ab9
20:742239 SLC52A3 T>C	20	742239	742239	T	C	SLC52A3	c.1197+106A>G	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.742239T>C	(Likely) benign	1 lab	cd97c80bf2
X:153648531 TAFAZZIN T>G	X	153648531	153648531	T	G	TAFAZZIN	c.647-20T>G	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153648531T>G	(Likely) benign	1 lab	cd97f2b553
2:189853998 COL3A1 T>C	2	189853998	189853998	T	C	COL3A1	c.637-124T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853998T>C	(Likely) benign	1 lab	cd98496344
9:137704619 COL5A1 TC>T	9	137704619	137704620	TC	T	COL5A1	c.3852+62del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137704620del	(Likely) benign	1 lab	cd9b1dd1ee
1:3342200 PRDM16 C>T	1	3342200	3342200	C	T	PRDM16	c.2995C>T	NM_022114.4	NP_071397.3:p.(Arg999Trp)	NC_000001.10:g.3342200C>T	VUS	1 lab	cd9cda2c22
18:25727733 CDH2 A>C	18	25727733	25727733	A	C	CDH2	c.76T>G	NM_001792.5	NP_001783.2:p.(Ser26Ala)	NC_000018.9:g.25727733A>C	VUS	1 lab	cd9e2e6090
16:57017292 CETP A>G	16	57017292	57017292	A	G	CETP	c.1376A>G	NM_000078.3	NP_000069.2:p.(Asp459Gly)	NC_000016.9:g.57017292A>G	(Likely) benign	1 lab	cd9ec1fd2e
7:33423287 BBS9 G>T	7	33423287	33423287	G	T	BBS9	c.1799G>T	NM_198428.3	NP_940820.1:p.(Arg600Leu)	NC_000007.13:g.33423287G>T	VUS	1 lab	cd9f27bd38
19:11199883 LDLR C>A	19	11199883	11199883	C	A	LDLR				NC_000019.9:g.11199883C>A	VUS	1 lab	cd9fa3a6a2
12:122247821 SETD1B C>T	12	122247821	122247821	C	T	SETD1B	c.970C>T	NM_001353345.2	NP_001340274.1:p.(Arg324Cys)	NC_000012.11:g.122247821C>T	VUS	1 lab	cd9fed55b2
19:45412158 APOE T>C	19	45412158	45412158	T	C	APOE	c.683T>C	NM_001302688.2	NP_001289617.1:p.(Leu228Pro)	NC_000019.9:g.45412158T>C	VUS	1 lab	cda1c0d43e
1:205180561 DSTYK G>GGTAGCGGCC	1	205180561	205180571	G	GGTAGCGGCC	DSTYK	c.94_102dup	NM_015375.3	NP_056190.1:p.(Gly32_Tyr34dup)	NC_000001.10:g.205180563_205180571dup	VUS	1 lab	cda2e25f22
5:172660520 NKX2-5 A>AT	5	172660520	172660521	A	AT	NKX2-5	c.335-17_335-16insA	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660520_172660521insT	(Likely) benign	1 lab	cda4a9708a
3:53044470 MISSING Ref too long to show for this DEL>T	3	53044470	58228392	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.53044471_58228392del	(Likely) pathogenic	1 lab	cda58e9630
17:75303502 SEPTIN9 G>A	17	75303502	75303502	G	A	SEPTIN9	c.-417+223G>A	NM_001113492.2	NP_001106964.1:p.?	NC_000017.10:g.75303502G>A	(Likely) benign	1 lab	cda68cabed
6:112575286 LAMA4 G>A	6	112575286	112575286	G	A	LAMA4	c.67C>T	NM_002290.5	NP_002281.3:p.(Arg23Cys)	NC_000006.11:g.112575286G>A	VUS	1 lab	cda93d6830
16:49671410 ZNF423 C>T	16	49671410	49671410	C	T	ZNF423	c.1473G>A	NM_001271620.2	NP_001258549.1:p.(Pro491=)	NC_000016.9:g.49671410C>T	(Likely) benign	1 lab	cda9837bbf
2:179437378 TTN C>G	2	179437378	179437378	C	G	TTN	c.73481G>C	NM_001267550.2	NP_001254479.2:p.(Ser24494Thr)	NC_000002.11:g.179437378C>G	VUS	1 lab	cdaba55beb
12:21331507 SLCO1B1 T>TA	12	21331507	21331508	T	TA	SLCO1B1	c.482-2dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331508dup	(Likely) benign	1 lab	cdabdc82d2
2:179641406 TTN T>G	2	179641406	179641406	T	G	TTN	c.5185A>C	NM_001267550.2	NP_001254479.2:p.(Ile1729Leu)	NC_000002.11:g.179641406T>G	VUS	1 lab	cdac846b1d
12:125348255 SCARB1 G>A	12	125348255	125348255	G	A	SCARB1	c.12C>T	NM_005505.5	NP_005496.4:p.(Ser4=)	NC_000012.11:g.125348255G>A	(Likely) benign	1 lab	cdae1f4a3e
16:965876 LMF1 A>G	16	965876	965876	A	G	LMF1	c.116-4797T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.965876A>G	(Likely) benign	1 lab	cdafb8a4e3
15:80452239 FAH A>AG	15	80452239	80452245	A	AG	FAH	c.314+26dup	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80452245dup	(Likely) benign	1 lab	cdb32dd256
16:15839034 MYH11 G>A	16	15839034	15839034	G	A	MYH11	c.2493C>T	NM_001040113.2	NP_001035202.1:p.(Ala831=)	NC_000016.9:g.15839034G>A	(Likely) benign	1 lab	cdb3abbf51
9:139329281 INPP5E C>T	9	139329281	139329281	C	T	INPP5E	c.847G>A	NM_001318502.2	NP_001305431.1:p.(Ala283Thr)	NC_000009.11:g.139329281C>T	VUS	1 lab	cdb592cada
12:125279745 SCARB1 T>C	12	125279745	125279745	T	C	SCARB1	c.1198A>G	NM_001367981.1	NP_001354910.1:p.(Ile400Val)	NC_000012.11:g.125279745T>C	VUS	1 lab	cdbc4aa1b9
19:11218100 LDLR T>C	19	11218100	11218100	T	C	LDLR	c.850T>C	NM_000527.5	NP_000518.1:p.(Cys284Arg)	NC_000019.9:g.11218100T>C	(Likely) pathogenic	1 lab	cdbf9f1b92
X:130411161 IGSF1 G>A	X	130411161	130411161	G	A	IGSF1	c.2375C>T	NM_001170961.2	NP_001164432.1:p.(Pro792Leu)	NC_000023.10:g.130411161G>A	VUS	1 lab	cdbfd03ca6
20:42744452 JPH2 C>T	20	42744452	42744452	C	T	JPH2	c.1863G>A	NM_020433.5	NP_065166.2:p.(Lys621=)	NC_000020.10:g.42744452C>T	(Likely) benign	1 lab	cdc13bbf5c
9:107546699 ABCA1 T>C	9	107546699	107546699	T	C	ABCA1	c.6683A>G	NM_005502.4	NP_005493.2:p.(Asp2228Gly)	NC_000009.11:g.107546699T>C	VUS	1 lab	cdc41601df
10:75849045 VCL C>T	10	75849045	75849045	C	T	VCL	c.1114C>T	NM_003373.4	NP_003364.1:p.(Arg372Cys)	NC_000010.10:g.75849045C>T	VUS	1 lab	cdc4d59051
6:16142061 MYLIP T>C	6	16142061	16142061	T	C	MYLIP	c.464+20T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16142061T>C	(Likely) benign	1 lab	cdc662dc32
9:136223221 SURF1 GCCCCGCA>G	9	136223221	136223266	GCCCCGCA	G	SURF1	c.54+48_55-47del	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136223260_136223266del	(Likely) benign	1 lab	cee8d9c7b0
12:124377814 DNAH10 A>G	12	124377814	124377814	A	G	DNAH10	c.8676A>G	NM_207437.3	NP_997320.2:p.(Lys2892=)	NC_000012.11:g.124377814A>G	(Likely) benign	1 lab	cdcb2ec92a
2:182403799 CERKL G>A	2	182403799	182403799	G	A	CERKL	c.1616+20C>T	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182403799G>A	(Likely) benign	1 lab	cdcc3da81a
1:25883739 LDLRAP1 T>C	1	25883739	25883739	T	C	LDLRAP1	c.440T>C	NM_015627.3	NP_056442.2:p.(Leu147Pro)	NC_000001.10:g.25883739T>C	(Likely) pathogenic	1 lab	cdd025d40f
3:100420116 MISSING Ref too long to show for this DEL>A	3	100420116	100468763	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.100420117_100468763del	VUS	1 lab	cdd5071591
1:89523844 GBP1 G>A	1	89523844	89523844	G	A	GBP1	c.705C>T	NM_002053.3	NP_002044.2:p.(Cys235=)	NC_000001.10:g.89523844G>A	(Likely) benign	1 lab	cdd752d9c7
11:5247593 HBB GAAAA>G	11	5247593	5247602	GAAAA	G	HBB	c.315+210_315+213del	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247599_5247602del	(Likely) pathogenic	1 lab	cdd798c55d
18:47091718 LIPG T>A	18	47091718	47091718	T	A	LIPG	c.129T>A	NM_006033.4	NP_006024.1:p.(Thr43=)	NC_000018.9:g.47091718T>A	(Likely) benign	1 lab	cdd7f6310f
11:108183218 ATM G>T	11	108183218	108183218	G	T	ATM	c.5999G>T	NM_000051.4	NP_000042.3:p.(Ser2000Ile)	NC_000011.9:g.108183218G>T	VUS	1 lab	cddacd35ed
18:34205479 FHOD3 G>A	18	34205479	34205479	G	A	FHOD3	c.963G>A	NM_001281740.3	NP_001268669.1:p.(Ala321=)	NC_000018.9:g.34205479G>A	(Likely) benign	1 lab	cdde7c85ab
4:83555654 MISSING Ref too long to show for this DEL>T	4	83555654	83996870	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.83555657_83996870del	VUS	1 lab	cde2122be6
18:47093819 LIPG G>T	18	47093819	47093819	G	T	LIPG	c.287G>T	NM_006033.4	NP_006024.1:p.(Gly96Val)	NC_000018.9:g.47093819G>T	VUS	1 lab	cde23f32dc
8:19816871 LPL T>G	8	19816871	19816871	T	G	LPL	c.1119T>G	NM_000237.3	NP_000228.1:p.(Ser373Arg)	NC_000008.10:g.19816871T>G	VUS	1 lab	cde2d44966
1:100587004 MISSING G>Alt too long to show for this DUP	1	100587004	100642127	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.100587007_100642127dup	VUS	1 lab	cde401e5aa
X:32509386 DMD A>C	X	32509386	32509386	A	C	DMD	c.2622+8T>G	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32509386A>C	(Likely) benign	1 lab	cde4bc638c
X:100658871 GLA T>C	X	100658871	100658871	T	C	GLA	c.297A>G	NM_000169.3	NP_000160.1:p.(Gln99=)	NC_000023.10:g.100658871T>C	(Likely) benign	1 lab	cde634db1d
14:105174151 INF2 C>T	14	105174151	105174151	C	T	INF2	c.1547C>T	NM_022489.4	NP_071934.3:p.(Pro516Leu)	NC_000014.8:g.105174151C>T	(Likely) benign	1 lab	cde84959db
3:193336727 OPA1 T>A	3	193336727	193336727	T	A	OPA1	c.624+2T>A	NM_015560.3	NP_056375.2:p.?	NC_000003.11:g.193336727T>A	(Likely) pathogenic	1 lab	cde863d07f
4:126411082 FAT4 A>G	4	126411082	126411082	A	G	FAT4	c.13111A>G	NM_001291303.3	NP_001278232.1:p.(Met4371Val)	NC_000004.11:g.126411082A>G	(Likely) benign	1 lab	cde9eac0f6
18:19399562 MIB1 A>G	18	19399562	19399562	A	G	MIB1	c.1784A>G	NM_020774.4	NP_065825.1:p.(Asn595Ser)	NC_000018.9:g.19399562A>G	VUS	1 lab	cdf0912a19
16:15831450 MYH11 C>T	16	15831450	15831450	C	T	MYH11	c.3149G>A	NM_002474.3	NP_002465.1:p.(Arg1050Gln)	NC_000016.9:g.15831450C>T	VUS	1 lab	cdf2d5671d
4:114278098 ANK2 A>G	4	114278098	114278098	A	G	ANK2	c.8324A>G	NM_001148.6	NP_001139.3:p.(His2775Arg)	NC_000004.11:g.114278098A>G	VUS	1 lab	cdf60b3bc8
3:8787265 CAV3 C>A	3	8787265	8787265	C	A	CAV3	c.168C>A	NM_033337.3	NP_203123.1:p.(Gly56=)	NC_000003.11:g.8787265C>A	(Likely) benign	1 lab	cdf75e8ba7
2:219674287 CYP27A1 T>C	2	219674287	219674287	T	C	CYP27A1	c.256-13T>C	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219674287T>C	VUS	1 lab	cdfb4b3a4b
18:10671760 PIEZO2 C>A	18	10671760	10671760	C	A	PIEZO2	c.8023G>T	NM_022068.4	NP_071351.2:p.(Ala2675Ser)	NC_000018.9:g.10671760C>A	VUS	1 lab	ce011dace1
12:118293221 KSR2 G>C	12	118293221	118293221	G	C	KSR2	c.472+12C>G	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.118293221G>C	(Likely) benign	1 lab	ce02580c45
X:70443673 GJB1 C>T	X	70443673	70443673	C	T	GJB1	c.116C>T	NM_000166.6	NP_000157.1:p.(Ala39Val)	NC_000023.10:g.70443673C>T	(Likely) pathogenic	1 lab	ce062e5ee6
2:220494118 SLC4A3 A>C	2	220494118	220494118	A	C	SLC4A3	c.470A>C	NM_001326559.2	NP_001313488.2:p.(His157Pro)	NC_000002.11:g.220494118A>C	(Likely) benign	1 lab	ce07120377
2:27601346 ZNF513 G>A	2	27601346	27601346	G	A	ZNF513	c.787C>T	NM_144631.6	NP_653232.3:p.(Arg263Trp)	NC_000002.11:g.27601346G>A	VUS	1 lab	ce080e892e
12:2695071 CACNA1C G>A	12	2695071	2695071	G	A	CACNA1C	c.2530+1G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2695071G>A	VUS	1 lab	ce09d8bcbb
2:179528567 TTN G>A	2	179528567	179528567	G	A	TTN	c.36427C>T	NM_001267550.2	NP_001254479.2:p.(Pro12143Ser)	NC_000002.11:g.179528567G>A	VUS	1 lab	ce09fd6b86
15:58834110 LIPC G>A	15	58834110	58834110	G	A	LIPC	c.400G>A	NM_000236.3	NP_000227.2:p.(Val134Ile)	NC_000015.9:g.58834110G>A	VUS	1 lab	ce0b6ac254
6:10402841 TFAP2A G>A	6	10402841	10402841	G	A	TFAP2A	c.749C>T	NM_001032280.3	NP_001027451.1:p.(Ala250Val)	NC_000006.11:g.10402841G>A	(Likely) pathogenic	1 lab	ce0eb83b46
2:189856272 COL3A1 T>TA	2	189856272	189856273	T	TA	COL3A1	c.897+16dup	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856273dup	(Likely) benign	1 lab	ce0f91afbb
12:125348165 SCARB1 C>T	12	125348165	125348165	C	T	SCARB1	c.102G>A	NM_001367981.1	NP_001354910.1:p.(Ser34=)	NC_000012.11:g.125348165C>T	(Likely) benign	1 lab	ce194ded74
14:21862154 CHD8 G>GAAGC	14	21862154	21862158	G	GAAGC	CHD8	c.5796_5799dup	NM_001170629.2	NP_001164100.1:p.(Leu1934AlafsTer74)	NC_000014.8:g.21862155_21862158dup	(Likely) pathogenic	1 lab	ce1f8ccf76
1:237944902 RYR2 A>T	1	237944902	237944902	A	T	RYR2	c.11918A>T	NM_001035.3	NP_001026.2:p.(Asp3973Val)	NC_000001.10:g.237944902A>T	VUS	1 lab	ce23d90053
9:111665866 ELP1 C>T	9	111665866	111665866	C	T	ELP1	c.1727G>A	NM_003640.5	NP_003631.2:p.(Gly576Asp)	NC_000009.11:g.111665866C>T	VUS	1 lab	ce27b2e15d
9:107547757 ABCA1 T>C	9	107547757	107547757	T	C	ABCA1	c.6565A>G	NM_005502.4	NP_005493.2:p.(Arg2189Gly)	NC_000009.11:g.107547757T>C	VUS	1 lab	ce27c2407d
16:1020940 LMF1 G>C	16	1020940	1020940	G	C	LMF1	c.41C>G	NM_022773.4	NP_073610.2:p.(Ser14Trp)	NC_000016.9:g.1020940G>C	(Likely) pathogenic	1 lab	ce2961ae57
12:124401027 DNAH10 C>A	12	124401027	124401027	C	A	DNAH10	c.10392C>A	NM_207437.3	NP_997320.2:p.(Asp3464Glu)	NC_000012.11:g.124401027C>A	(Likely) benign	1 lab	ce2b362993
15:48725104 FBN1 G>A	15	48725104	48725104	G	A	FBN1	c.6698C>T	NM_000138.5	NP_000129.3:p.(Pro2233Leu)	NC_000015.9:g.48725104G>A	(Likely) pathogenic	1 lab	ce2d00ca28
X:70444118 GJB1 A>AAACCGTCTT	X	70444118	70444120	A	AAACCGTCTT	GJB1	c.562_563insACCGTCTTA	NM_000166.6	NP_000157.1:p.(Lys187_Thr188insAsnArgLeu)	NC_000023.10:g.70444119_70444120insACCGTCTTA	(Likely) pathogenic	1 lab	ce2e48f760
22:22721905 MISSING Ref too long to show for this DEL>A	22	22721905	23208023	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22721907_23208023del	(Likely) pathogenic	1 lab	ce31485178
X:13729946 MISSING T>Alt too long to show for this DUP	X	13729946	13910812	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13729947_13910812dup	VUS	1 lab	ce3edf7d5f
11:47358082 MYBPC3 G>A	11	47358082	47358082	G	A	MYBPC3	c.2603-520C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358082G>A	(Likely) benign	1 lab	ce4611eff3
1:55529191 PCSK9 C>T	1	55529191	55529191	C	T	PCSK9	c.2013C>T	NM_174936.4	NP_777596.2:p.(Ala671=)	NC_000001.10:g.55529191C>T	(Likely) benign	1 lab	ce484761e2
1:156109644 LMNA G>A	1	156109644	156109644	G	A	LMNA	c.*747G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156109644G>A	(Likely) benign	1 lab	ce49fc30a7
X:2836041 ARSD A>T	X	2836041	2836041	A	T	ARSD	c.667T>A	NM_001669.4	NP_001660.2:p.(Phe223Ile)	NC_000023.10:g.2836041A>T	(Likely) benign	1 lab	ce4bdf4056
X:38182174 RPGR C>A	X	38182174	38182174	C	A	RPGR	c.179G>T	NM_001034853.2	NP_001030025.1:p.(Gly60Val)	NC_000023.10:g.38182174C>A	VUS	1 lab	ce4d116a2f
19:11223971 LDLR TTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCC>T	19	11223971	11224033	TTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACCAGCC	T	LDLR	c.1207_1266del	NM_000527.5	NP_000518.1:p.(Phe403_Leu422del)	NC_000019.9:g.11223974_11224033del	(Likely) pathogenic	1 lab	ce4d156933
15:73615969 HCN4 G>A	15	73615969	73615969	G	A	HCN4	c.2465C>T	NM_005477.3	NP_005468.1:p.(Thr822Met)	NC_000015.9:g.73615969G>A	VUS	1 lab	ce52e5ba36
8:59404096 CYP7A1 CTGCCCGGGACT>C	8	59404096	59404107	CTGCCCGGGACT	C	CYP7A1	c.1442_1452del	NM_000780.4	NP_000771.2:p.(Gln481ArgfsTer10)	NC_000008.10:g.59404097_59404107del	VUS	1 lab	ce54e7e093
1:63064496 ANGPTL3 G>A	1	63064496	63064496	G	A	ANGPTL3	c.606+19G>A	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63064496G>A	(Likely) benign	1 lab	ce5aa6401d
12:64689335 MISSING A>Alt too long to show for this DUP	12	64689335	64828498	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.64689337_64828498dup	VUS	1 lab	ce5b61a120
10:102936861 MISSING T>Alt too long to show for this DUP	10	102936861	103449473	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.102936862_103449473dup	(Likely) pathogenic	1 lab	ce5ccc0bb9
17:41267742 BRCA1 C>G	17	41267742	41267742	C	G	BRCA1	c.134+1G>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267742C>G	(Likely) pathogenic	1 lab	ce6047380f
11:74168280 KCNE3 G>A	11	74168280	74168280	G	A	KCNE3	c.*17C>T	NM_005472.5	NP_005463.1:p.?	NC_000011.9:g.74168280G>A	(Likely) benign	1 lab	ce613fc763
15:85402814 ALPK3 G>A	15	85402814	85402814	G	A	ALPK3	c.3965+193G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402814G>A	(Likely) benign	1 lab	ce62527129
1:6533528 PLEKHG5 G>A	1	6533528	6533528	G	A	PLEKHG5	c.592-14C>T	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6533528G>A	(Likely) benign	1 lab	ce63f6777b
15:85383789 ALPK3 A>T	15	85383789	85383789	A	T	ALPK3	c.1279A>T	NM_020778.5	NP_065829.4:p.(Arg427Trp)	NC_000015.9:g.85383789A>T	VUS	1 lab	ce6555d6e8
19:18879435 CRTC1 A>C	19	18879435	18879435	A	C	CRTC1	c.1200A>C	NM_001098482.2	NP_001091952.1:p.(Pro400=)	NC_000019.9:g.18879435A>C	(Likely) benign	1 lab	ce66b0b673
18:47108037 LIPG A>G	18	47108037	47108037	A	G	LIPG	c.1036+10A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108037A>G	(Likely) benign	1 lab	ce6abbfd02
4:126372041 FAT4 G>A	4	126372041	126372041	G	A	FAT4	c.9876G>A	NM_001291303.3	NP_001278232.1:p.(Gly3292=)	NC_000004.11:g.126372041G>A	(Likely) benign	1 lab	ce6b63b825
3:52378549 DNAH1 G>C	3	52378549	52378549	G	C	DNAH1	c.1330G>C	NM_015512.5	NP_056327.4:p.(Asp444His)	NC_000003.11:g.52378549G>C	VUS	1 lab	ce6d9a758c
8:134262768 NDRG1 C>T	8	134262768	134262768	C	T	NDRG1	c.613G>A	NM_001135242.2	NP_001128714.1:p.(Val205Met)	NC_000008.10:g.134262768C>T	VUS	1 lab	ce716b705d
12:110231780 TRPV4 G>A	12	110231780	110231780	G	A	TRPV4	c.1539C>T	NM_021625.5	NP_067638.3:p.(Gly513=)	NC_000012.11:g.110231780G>A	VUS	1 lab	ce7562f551
6:16143462 MYLIP T>C	6	16143462	16143462	T	C	MYLIP	c.662+14T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16143462T>C	(Likely) benign	1 lab	ce7677d938
9:95030582 IARS1 C>G	9	95030582	95030582	C	G	IARS1	c.1305G>C	NM_013417.4	NP_038203.2:p.(Trp435Cys)	NC_000009.11:g.95030582C>G	VUS	1 lab	ce7b1044ba
6:32012509 TNXB G>A	6	32012509	32012509	G	A	TNXB	c.10922-16C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012509G>A	(Likely) benign	1 lab	ce7f3b830a
17:48257110 MISSING T>Alt too long to show for this DUP	17	48257110	48279013	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.48257113_48279013dup	VUS	1 lab	ce7fbb170a
6:32012461 TNXB A>C	6	32012461	32012461	A	C	TNXB	c.10954T>G	NM_019105.8	NP_061978.6:p.(Ser3652Ala)	NC_000006.11:g.32012461A>C	(Likely) benign	1 lab	ce817db0c8
X:132351674 TFDP3 T>C	X	132351674	132351674	T	C	TFDP3	c.614A>G	NM_016521.3	NP_057605.3:p.(Gln205Arg)	NC_000023.10:g.132351674T>C	(Likely) benign	1 lab	ce82cd7928
17:63533558 AXIN2 C>T	17	63533558	63533558	C	T	AXIN2	c.1596G>A	NM_004655.4	NP_004646.3:p.(Glu532=)	NC_000017.10:g.63533558C>T	(Likely) benign	1 lab	ce87630db1
12:133244162 POLE C>T	12	133244162	133244162	C	T	POLE	c.2246G>A	NM_006231.4	NP_006222.2:p.(Arg749Gln)	NC_000012.11:g.133244162C>T	VUS	1 lab	ce894f119e
22:50900079 SBF1 C>G	22	50900079	50900079	C	G	SBF1	c.2712G>C	NM_002972.4	NP_002963.2:p.(Leu904=)	NC_000022.10:g.50900079C>G	(Likely) benign	1 lab	ce899f3248
1:160109760 ATP1A2 G>A	1	160109760	160109760	G	A	ATP1A2	c.3020G>A	NM_000702.4	NP_000693.1:p.(Arg1007Gln)	NC_000001.10:g.160109760G>A	VUS	1 lab	ce8a2be7c2
18:47088830 LIPG C>G	18	47088830	47088830	C	G	LIPG	c.97+55C>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088830C>G	(Likely) benign	1 lab	ce8a675574
1:55518490 PCSK9 C>T	1	55518490	55518490	C	T	PCSK9	c.799+26C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518490C>T	(Likely) benign	1 lab	ce8c3f31bc
2:21230193 APOB T>C	2	21230193	21230193	T	C	APOB	c.9547A>G	NM_000384.3	NP_000375.3:p.(Arg3183Gly)	NC_000002.11:g.21230193T>C	VUS	1 lab	ce8fd8f85b
10:73485272 CDH23 G>A	10	73485272	73485272	G	A	CDH23	c.3574G>A	NM_022124.6	NP_071407.4:p.(Val1192Ile)	NC_000010.10:g.73485272G>A	(Likely) benign	1 lab	ce906db0a1
X:133549255 PHF6 C>T	X	133549255	133549255	C	T	PHF6	c.*3C>T	NM_032335.3	NP_115711.2:p.?	NC_000023.10:g.133549255C>T	(Likely) benign	1 lab	ce94bfc636
2:21224845 APOB C>T	2	21224845	21224845	C	T	APOB	c.13449G>A	NM_000384.3	NP_000375.3:p.(Ala4483=)	NC_000002.11:g.21224845C>T	(Likely) benign	1 lab	ce98c67d33
9:107550303 ABCA1 G>A	9	107550303	107550303	G	A	ABCA1	c.6102C>T	NM_005502.4	NP_005493.2:p.(Leu2034=)	NC_000009.11:g.107550303G>A	(Likely) benign	1 lab	cea37555e8
4:122747117 BBS7 A>G	4	122747117	122747117	A	G	BBS7	c.2046T>C	NM_176824.3	NP_789794.1:p.(Phe682=)	NC_000004.11:g.122747117A>G	(Likely) benign	1 lab	cea5409b13
19:40901010 PRX C>T	19	40901010	40901010	C	T	PRX	c.3249G>A	NM_181882.3	NP_870998.2:p.(Pro1083=)	NC_000019.9:g.40901010C>T	(Likely) benign	1 lab	cea5f62569
15:85407661 ALPK3 A>G	15	85407661	85407661	A	G	ALPK3	c.4500-12A>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85407661A>G	(Likely) pathogenic	1 lab	cea8e5156b
3:50232375 GNAT1 G>GT	3	50232375	50232376	G	GT	GNAT1	c.1041dup	NM_144499.3	NP_653082.1:p.(Gly348TrpfsTer86)	NC_000003.11:g.50232376dup	VUS	1 lab	cea96b93bf
3:123459037 MYLK T>C	3	123459037	123459037	T	C	MYLK	c.374-189A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123459037T>C	(Likely) benign	1 lab	cea98218b2
19:45412337 APOE G>A	19	45412337	45412337	G	A	APOE	c.862G>A	NM_001302688.2	NP_001289617.1:p.(Glu288Lys)	NC_000019.9:g.45412337G>A	VUS	1 lab	cea9c36720
10:89690743 PTEN CT>C	10	89690743	89690751	CT	C	PTEN	c.210-52del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690751del	(Likely) benign	1 lab	ceaa866def
2:44051189 ABCG5 A>C	2	44051189	44051189	A	C	ABCG5	c.1187T>G	NM_022436.3	NP_071881.1:p.(Met396Arg)	NC_000002.11:g.44051189A>C	(Likely) pathogenic	1 lab	cead4dca30
22:32574669 MISSING Ref too long to show for this DEL>C	22	32574669	32593082	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.32574671_32593082del	VUS	1 lab	ceb013d0a1
16:57007610 CETP G>A	16	57007610	57007610	G	A	CETP	c.930+188G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007610G>A	(Likely) benign	1 lab	ceb1e6013b
8:42837779 HOOK3 C>T	8	42837779	42837779	C	T	HOOK3	c.1331C>T	NM_032410.4	NP_115786.1:p.(Pro444Leu)	NC_000008.10:g.42837779C>T	VUS	1 lab	ceb4886752
12:21960385 ABCC9 A>G	12	21960385	21960385	A	G	ABCC9	c.4344T>C	NM_001377273.1	NP_001364202.1:p.(Asn1448=)	NC_000012.11:g.21960385A>G	(Likely) benign	1 lab	ceb55e9cca
3:197880130 FAM157A GGCAGCA>G	3	197880130	197880172	GGCAGCA	G	FAM157A	n.91_96del	NR_146164.1		NC_000003.11:g.197880167_197880172del	(Likely) benign	1 lab	cebd43b6ad
3:38182025 MYD88 G>T	3	38182025	38182025	G	T	MYD88	c.610G>T	NM_001172567.2	NP_001166038.2:p.(Val204Phe)	NC_000003.11:g.38182025G>T	VUS	1 lab	cebe7d911c
3:24231796 THRB T>G	3	24231796	24231796	T	G	THRB	c.52A>C	NM_001354708.2	NP_001341637.1:p.(Lys18Gln)	NC_000003.11:g.24231796T>G	(Likely) benign	1 lab	cec10e3316
16:89341260 ANKRD11 GC>G	16	89341260	89341261	GC	G	ANKRD11	c.7674del	NM_001256182.2	NP_001243111.1:p.(Leu2559TrpfsTer43)	NC_000016.9:g.89341261del	(Likely) pathogenic	1 lab	cec359c5a2
16:84043408 SLC38A8 G>T	16	84043408	84043408	G	T	SLC38A8	c.1289C>A	NM_001080442.3	NP_001073911.1:p.(Ala430Glu)	NC_000016.9:g.84043408G>T	VUS	1 lab	cec48043a7
7:98609972 TRRAP G>A	7	98609972	98609972	G	A	TRRAP	c.11487G>A	NM_003496.4	NP_003487.1:p.(Trp3829Ter)	NC_000007.13:g.98609972G>A	VUS	1 lab	cec9945afb
9:137709399 COL5A1 T>C	9	137709399	137709399	T	C	COL5A1	c.4177-225T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709399T>C	(Likely) benign	1 lab	ced24b4b1a
6:42141360 GUCA1ANB-GUCA1A C>T	6	42141360	42141360	C	T	GUCA1ANB-GUCA1A	c.9C>T	NM_000409.5	NP_000400.2:p.(Asn3=)	NC_000006.11:g.42141360C>T	(Likely) benign	1 lab	ced4b10a35
2:179632721 TTN A>G	2	179632721	179632721	A	G	TTN	c.9305+20T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179632721A>G	(Likely) benign	1 lab	ced5e7c9cd
12:118198983 KSR2 C>T	12	118198983	118198983	C	T	KSR2	c.819G>A	NM_173598.6	NP_775869.4:p.(Pro273=)	NC_000012.11:g.118198983C>T	(Likely) benign	1 lab	ced64f6bd0
18:34261511 FHOD3 C>T	18	34261511	34261511	C	T	FHOD3	c.1948C>T	NM_001281740.3	NP_001268669.1:p.(Arg650Trp)	NC_000018.9:g.34261511C>T	(Likely) benign	1 lab	ced6fe517e
7:128489402 FLNC C>T	7	128489402	128489402	C	T	FLNC	c.4969C>T	NM_001458.5	NP_001449.3:p.(Arg1657Ter)	NC_000007.13:g.128489402C>T	(Likely) pathogenic	1 lab	cedede9a0f
19:4511341 PLIN4 T>C	19	4511341	4511341	T	C	PLIN4	c.2631A>G	NM_001367868.2	NP_001354797.1:p.(Lys877=)	NC_000019.9:g.4511341T>C	(Likely) benign	1 lab	cf1f230ab1
17:48264429 COL1A1 CA>C	17	48264429	48264430	CA	C	COL1A1	c.3477del	NM_000088.4	NP_000079.2:p.(Gly1160AlafsTer79)	NC_000017.10:g.48264430del	(Likely) pathogenic	1 lab	cedf36deff
X:79974980 BRWD3 ATACT>A	X	79974980	79974987	ATACT	A	BRWD3	c.2044+4_2044+7del	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79974984_79974987del	VUS	1 lab	cee0fca073
2:179544066 TTN C>T	2	179544066	179544066	C	T	TTN	c.33742G>A	NM_001267550.2	NP_001254479.2:p.(Val11248Ile)	NC_000002.11:g.179544066C>T	VUS	1 lab	cee81e23b9
20:62663340 PRPF6 G>A	20	62663340	62663340	G	A	PRPF6	c.2616G>A	NM_012469.4	NP_036601.2:p.(Ser872=)	NC_000020.10:g.62663340G>A	(Likely) benign	1 lab	ceed955c41
16:81413389 GAN T>C	16	81413389	81413389	T	C	GAN	c.*2188T>C	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81413389T>C	(Likely) benign	1 lab	ceeed70dcb
2:212251726 ERBB4 T>C	2	212251726	212251726	T	C	ERBB4	c.3333A>G	NM_005235.3	NP_005226.1:p.(Leu1111=)	NC_000002.11:g.212251726T>C	(Likely) benign	1 lab	cef0b55bf3
18:47095841 LIPG T>G	18	47095841	47095841	T	G	LIPG	c.494T>G	NM_006033.4	NP_006024.1:p.(Leu165Trp)	NC_000018.9:g.47095841T>G	VUS	1 lab	cef0e43f8d
1:45456602 MISSING Ref too long to show for this DEL>T	1	45456602	45492241	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.45456604_45492241del	VUS	1 lab	cef1a93cfb
6:75844563 COL12A1 T>C	6	75844563	75844563	T	C	COL12A1	c.5403A>G	NM_004370.6	NP_004361.3:p.(Ile1801Met)	NC_000006.11:g.75844563T>C	VUS	1 lab	cef3187547
2:179665107 TTN A>G	2	179665107	179665107	A	G	TTN	c.583+15T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179665107A>G	(Likely) benign	1 lab	cef57f7125
11:65321926 LTBP3 A>C	11	65321926	65321926	A	C	LTBP3	c.332-75T>G	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65321926A>C	(Likely) benign	1 lab	cef8f783b6
1:109486553 CLCC1 T>C	1	109486553	109486553	T	C	CLCC1	c.466A>G	NM_001048210.3	NP_001041675.1:p.(Ser156Gly)	NC_000001.10:g.109486553T>C	(Likely) benign	1 lab	cef92d504d
12:32945632 PKP2 G>A	12	32945632	32945632	G	A	PKP2	c.2523C>T	NM_004572.4	NP_004563.2:p.(Ser841=)	NC_000012.11:g.32945632G>A	(Likely) benign	1 lab	cef980644c
11:709616 MISSING A>Alt too long to show for this DUP	11	709616	811494	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.709617_811494dup	VUS	1 lab	cefb37223e
2:1481372 TPO AC>A	2	1481372	1481374	AC	A	TPO	c.1336del	NM_001206744.2	NP_001193673.1:p.(Gln446ArgfsTer5)	NC_000002.11:g.1481374del	(Likely) pathogenic	1 lab	cf032e295e
2:27601054 ZNF513 A>T	2	27601054	27601054	A	T	ZNF513	c.984T>A	NM_144631.6	NP_653232.3:p.(Gly328=)	NC_000002.11:g.27601054A>T	(Likely) benign	1 lab	cf0585e91a
5:127800623 FBN2 T>C	5	127800623	127800623	T	C	FBN2	c.629-9A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800623T>C	(Likely) benign	1 lab	cf06c028ef
1:55529147 PCSK9 A>G	1	55529147	55529147	A	G	PCSK9	c.1969A>G	NM_174936.4	NP_777596.2:p.(Arg657Gly)	NC_000001.10:g.55529147A>G	VUS	1 lab	cf12e611f6
2:179430332 TTN A>G	2	179430332	179430332	A	G	TTN	c.80527T>C	NM_001267550.2	NP_001254479.2:p.(Leu26843=)	NC_000002.11:g.179430332A>G	(Likely) benign	1 lab	cf16ad879e
9:137709657 COL5A1 C>A	9	137709657	137709657	C	A	COL5A1	c.4210C>A	NM_000093.5	NP_000084.3:p.(Gln1404Lys)	NC_000009.11:g.137709657C>A	VUS	1 lab	cf16c572db
16:88851310 PIEZO1 A>C	16	88851310	88851310	A	C	PIEZO1	c.63T>G	NM_001142864.4	NP_001136336.2:p.(Ala21=)	NC_000016.9:g.88851310A>C	(Likely) benign	1 lab	cf16dd565e
10:28224169 ODAD2 G>GA	10	28224169	28224170	G	GA	ODAD2	c.2264_2265insT	NM_001290020.2	NP_001276949.1:p.(Lys756GlnfsTer4)	NC_000010.10:g.28224169_28224170insA	(Likely) pathogenic	1 lab	cf17166ca7
2:74597731 DCTN1 A>G	2	74597731	74597731	A	G	DCTN1	c.1048+17T>C	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74597731A>G	(Likely) benign	1 lab	cf171a5954
9:133756047 ABL1 G>A	9	133756047	133756047	G	A	ABL1	c.1674G>A	NM_005157.6	NP_005148.2:p.(Glu558=)	NC_000009.11:g.133756047G>A	(Likely) benign	1 lab	cf172ca88b
11:11229498 MISSING Ref too long to show for this DEL>G	11	11229498	11292543	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.11229499_11292543del	VUS	1 lab	cf192ece5a
1:7804943 CAMTA1 C>T	1	7804943	7804943	C	T	CAMTA1	c.4231C>T	NM_015215.4	NP_056030.1:p.(Arg1411Ter)	NC_000001.10:g.7804943C>T	(Likely) pathogenic	1 lab	cf1ba6579e
10:13333922 PHYH C>CA	10	13333922	13333932	C	CA	PHYH	c.115-11dup	NM_001037537.2	NP_001032626.1:p.?	NC_000010.10:g.13333932dup	(Likely) benign	1 lab	cf22d7bb9b
1:3328775 PRDM16 C>A	1	3328775	3328775	C	A	PRDM16	c.2014C>A	NM_022114.4	NP_071397.3:p.(His672Asn)	NC_000001.10:g.3328775C>A	VUS	1 lab	cf24f07710
3:32181818 GPD1L C>T	3	32181818	32181818	C	T	GPD1L	c.465C>T	NM_015141.4	NP_055956.1:p.(Ala155=)	NC_000003.11:g.32181818C>T	(Likely) benign	1 lab	cf297d9140
9:3293132 RFX3 CAA>C	9	3293132	3293136	CAA	C	RFX3	c.674_675del	NM_134428.3	NP_602304.1:p.(Phe225TrpfsTer19)	NC_000009.11:g.3293135_3293136del	(Likely) pathogenic	1 lab	cf2f07d889
11:68201179 LRP5 C>T	11	68201179	68201179	C	T	LRP5	c.3873C>T	NM_002335.4	NP_002326.2:p.(Asp1291=)	NC_000011.9:g.68201179C>T	(Likely) benign	1 lab	cf2f18b014
18:77477899 CTDP1 C>T	18	77477899	77477899	C	T	CTDP1	c.2300C>T	NM_048368.4	NP_430255.2:p.(Pro767Leu)	NC_000018.9:g.77477899C>T	VUS	1 lab	cf334d713c
3:182587098 ATP11B T>G	3	182587098	182587098	T	G	ATP11B	c.1845T>G	NM_014616.3	NP_055431.1:p.(Ile615Met)	NC_000003.11:g.182587098T>G	(Likely) benign	1 lab	cf365350eb
7:151262854 PRKAG2 T>C	7	151262854	151262854	T	C	PRKAG2	c.1351A>G	NM_016203.4	NP_057287.2:p.(Ile451Val)	NC_000007.13:g.151262854T>C	VUS	1 lab	cf3b2bd2b5
6:11602414 MISSING T>Alt too long to show for this DUP	6	11602414	11944635	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.11602415_11944635dup	VUS	1 lab	cf3cf11bf4
16:15850204 MYH11 A>C	16	15850204	15850204	A	C	MYH11	c.1764T>G	NM_001040113.2	NP_001035202.1:p.(Ala588=)	NC_000016.9:g.15850204A>C	(Likely) benign	1 lab	cf3e8a369a
11:119210432 C1QTNF5 C>T	11	119210432	119210432	C	T	C1QTNF5	c.341G>A	NM_015645.5	NP_056460.1:p.(Arg114Gln)	NC_000011.9:g.119210432C>T	(Likely) benign	1 lab	cf3f555e46
4:39707926 MISSING C>Alt too long to show for this DUP	4	39707926	39871909	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.39707928_39871909dup	VUS	1 lab	cf404f826e
14:23886878 MYH7 C>G	14	23886878	23886878	C	G	MYH7	c.4187G>C	NM_000257.4	NP_000248.2:p.(Arg1396Pro)	NC_000014.8:g.23886878C>G	VUS	1 lab	cf41a04d42
8:144993069 PLEC G>A	8	144993069	144993069	G	A	PLEC	c.11331C>T	NM_201380.4	NP_958782.1:p.(Tyr3777=)	NC_000008.10:g.144993069G>A	(Likely) benign	1 lab	cf422d27e2
19:40901795 PRX C>T	19	40901795	40901795	C	T	PRX	c.2464G>A	NM_181882.3	NP_870998.2:p.(Glu822Lys)	NC_000019.9:g.40901795C>T	VUS	1 lab	cf42a9ca50
19:11240355 LDLR C>T	19	11240355	11240355	C	T	LDLR	c.2547+9C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240355C>T	(Likely) benign	1 lab	cf437015a6
9:139412725 NOTCH1 G>A	9	139412725	139412725	G	A	NOTCH1	c.1119C>T	NM_017617.5	NP_060087.3:p.(Asn373=)	NC_000009.11:g.139412725G>A	(Likely) benign	1 lab	cf483cfc3f
2:44058956 ABCG5 G>C	2	44058956	44058956	G	C	ABCG5	c.453C>G	NM_022436.3	NP_071881.1:p.(Thr151=)	NC_000002.11:g.44058956G>C	(Likely) benign	1 lab	cf4cacb3aa
2:21235570 APOB C>T	2	21235570	21235570	C	T	APOB	c.4217-47G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235570C>T	(Likely) benign	1 lab	cf51209f65
10:92672640 ANKRD1 G>T	10	92672640	92672640	G	T	ANKRD1	c.943C>A	NM_014391.3	NP_055206.2:p.(Arg315Ser)	NC_000010.10:g.92672640G>T	VUS	1 lab	cf53803bc8
X:603109 SHOX Ref too long to show for this DEL>G	X	603109	606099	Ref too long to show for this DEL	G	SHOX	c.633+1288_*728del	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.603110_606099del	VUS	1 lab	cf56869430
5:149510239 PDGFRB G>A	5	149510239	149510239	G	A	PDGFRB	c.1244-14C>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149510239G>A	(Likely) benign	1 lab	cf572c0ed8
18:19438562 MIB1 A>G	18	19438562	19438562	A	G	MIB1	c.2835A>G	NM_020774.4	NP_065825.1:p.(Ala945=)	NC_000018.9:g.19438562A>G	(Likely) benign	1 lab	cf58d68bd6
16:88500340 ZNF469 G>A	16	88500340	88500340	G	A	ZNF469	c.6462G>A	NM_001367624.2	NP_001354553.1:p.(Pro2154=)	NC_000016.9:g.88500340G>A	(Likely) benign	1 lab	cf5d363e39
6:97384212 KLHL32 Ref too long to show for this DEL>A	6	97384212	97514255	Ref too long to show for this DEL	A	KLHL32	c.-66+11312_411+1653del	NM_052904.4	NP_443136.2:p.?	NC_000006.11:g.97384214_97514255del	VUS	1 lab	cf5ea48725
5:138160360 CTNNA1 A>T	5	138160360	138160360	A	T	CTNNA1	c.730A>T	NM_001903.5	NP_001894.2:p.(Ile244Leu)	NC_000005.9:g.138160360A>T	VUS	1 lab	cf616d85bf
16:19063143 TMC7 A>G	16	19063143	19063143	A	G	TMC7	c.1541+5A>G	NM_001160364.2	NP_001153836.1:p.?	NC_000016.9:g.19063143A>G	(Likely) benign	1 lab	cf61d7bcbf
7:128480800 FLNC G>A	7	128480800	128480800	G	A	FLNC	c.1676+72G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480800G>A	(Likely) benign	1 lab	cf64849a7c
1:55518682 PCSK9 C>T	1	55518682	55518682	C	T	PCSK9	c.799+218C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518682C>T	(Likely) benign	1 lab	cf650e7453
2:47702290 MSH2 A>G	2	47702290	47702290	A	G	MSH2	c.1886A>G	NM_000251.3	NP_000242.1:p.(Gln629Arg)	NC_000002.11:g.47702290A>G	(Likely) benign	1 lab	cf6bea03f9
16:919918 LMF1 G>A	16	919918	919918	G	A	LMF1	c.982C>T	NM_001352018.2	NP_001338947.1:p.(Arg328Cys)	NC_000016.9:g.919918G>A	VUS	1 lab	cf6d595c03
16:75665494 KARS1 G>A	16	75665494	75665494	G	A	KARS1	c.1163-7C>T	NM_001130089.2	NP_001123561.1:p.?	NC_000016.9:g.75665494G>A	(Likely) benign	1 lab	cf6d6c267e
2:179495040 TTN G>A	2	179495040	179495040	G	A	TTN	c.44209C>T	NM_001267550.2	NP_001254479.2:p.(Arg14737Cys)	NC_000002.11:g.179495040G>A	VUS	1 lab	cf6edee5b9
2:44053607 ABCG5 G>A	2	44053607	44053607	G	A	ABCG5	c.688C>T	NM_022436.3	NP_071881.1:p.(Gln230Ter)	NC_000002.11:g.44053607G>A	(Likely) pathogenic	1 lab	cf702665bc
22:42205959 CCDC134 C>T	22	42205959	42205959	C	T	CCDC134	c.180C>T	NM_024821.5	NP_079097.1:p.(His60=)	NC_000022.10:g.42205959C>T	(Likely) benign	1 lab	cf708b24f3
7:91726986 AKAP9 C>T	7	91726986	91726986	C	T	AKAP9	c.10485C>T	NM_005751.5	NP_005742.4:p.(Tyr3495=)	NC_000007.13:g.91726986C>T	(Likely) benign	1 lab	cf71acb401
1:63069881 ANGPTL3 C>T	1	63069881	63069881	C	T	ANGPTL3	c.1173C>T	NM_014495.4	NP_055310.1:p.(His391=)	NC_000001.10:g.63069881C>T	(Likely) benign	1 lab	cf71dbf1dd
17:39925474 JUP CA>C	17	39925474	39925475	CA	C	JUP	c.469-16del	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39925475del	(Likely) benign	1 lab	cf73517cbb
1:63069626 ANGPTL3 A>G	1	63069626	63069626	A	G	ANGPTL3	c.932-14A>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63069626A>G	VUS	1 lab	cf74ed37f6
7:33185922 BBS9 T>G	7	33185922	33185922	T	G	BBS9	c.58T>G	NM_198428.3	NP_940820.1:p.(Phe20Val)	NC_000007.13:g.33185922T>G	VUS	1 lab	cf778c3753
6:56707946 DST C>G	6	56707946	56707946	C	G	DST	c.-3G>C	NM_183380.4	NP_899236.1:p.?	NC_000006.11:g.56707946C>G	(Likely) benign	1 lab	cf79d41b02
19:11238775 LDLR G>A	19	11238775	11238775	G	A	LDLR	c.2389+14G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238775G>A	(Likely) benign	1 lab	cf7ae74274
3:43448200 ANO10 Ref too long to show for this DEL>T	3	43448200	43474210	Ref too long to show for this DEL	T	ANO10	c.1807_1914+25902del	NM_018075.5	NP_060545.3:p.?	NC_000003.11:g.43448201_43474210del	VUS	1 lab	cf7b464949
2:44079965 ABCG8 G>T	2	44079965	44079965	G	T	ABCG8	c.922G>T	NM_022437.3	NP_071882.1:p.(Gly308Cys)	NC_000002.11:g.44079965G>T	VUS	1 lab	cf7baa912b
11:47367280 MYBPC3 A>G	11	47367280	47367280	A	G	MYBPC3	c.1090+478T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367280A>G	(Likely) benign	1 lab	cf7c0685ab
3:37785460 ITGA9 G>A	3	37785460	37785460	G	A	ITGA9	c.2368G>A	NM_002207.3	NP_002198.2:p.(Ala790Thr)	NC_000003.11:g.37785460G>A	(Likely) benign	1 lab	cf7ce30405
12:21375353 SLCO1B1 TATATATATAC>T	12	21375353	21375364	TATATATATAC	T	SLCO1B1	c.1747+57_1747+66del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375355_21375364del	(Likely) benign	1 lab	cf7de13d2c
8:39497986 ADAM18 Ref too long to show for this DEL>T	8	39497986	39511974	Ref too long to show for this DEL	T	ADAM18	c.909+1923_1230+5928del	NM_014237.3	NP_055052.1:p.?	NC_000008.10:g.39497988_39511974del	VUS	1 lab	cf835548ff
7:150644528 KCNH2 G>A	7	150644528	150644528	G	A	KCNH2	c.3040C>T	NM_000238.4	NP_000229.1:p.(Arg1014Ter)	NC_000007.13:g.150644528G>A	(Likely) pathogenic	1 lab	cf86df4c2e
17:14090299 MISSING Ref too long to show for this DEL>A	17	14090299	15482872	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.14090300_15482872del	(Likely) pathogenic	1 lab	cf892ff239
2:179476892 TTN G>A	2	179476892	179476892	G	A	TTN	c.42545-3C>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179476892G>A	(Likely) benign	1 lab	cf8aa70ec4
16:3701564 DNASE1 Ref too long to show for this DEL>C	16	3701564	3717022	Ref too long to show for this DEL	C	DNASE1				NC_000016.9:g.3701565_3717022del	VUS	1 lab	cf8e2a37e3
1:169500138 F5 AT>A	1	169500138	169500140	AT	A	F5	c.5093del	NM_000130.5	NP_000121.2:p.(Asn1698MetfsTer37)	NC_000001.10:g.169500140del	(Likely) pathogenic	1 lab	cf8e3ff7a8
18:58039300 MC4R C>T	18	58039300	58039300	C	T	MC4R	c.283G>A	NM_005912.3	NP_005903.2:p.(Val95Ile)	NC_000018.9:g.58039300C>T	(Likely) pathogenic	1 lab	cf8ed171eb
X:100656710 GLA C>T	X	100656710	100656710	C	T	GLA	c.457G>A	NM_000169.3	NP_000160.1:p.(Asp153Asn)	NC_000023.10:g.100656710C>T	VUS	1 lab	cf8f861536
15:73635940 HCN4 C>T	15	73635940	73635940	C	T	HCN4	c.995G>A	NM_005477.3	NP_005468.1:p.(Arg332Gln)	NC_000015.9:g.73635940C>T	VUS	1 lab	cf9045ce8c
8:100847927 VPS13B G>A	8	100847927	100847927	G	A	VPS13B	c.9978G>A	NM_017890.5	NP_060360.3:p.(Glu3326=)	NC_000008.10:g.100847927G>A	(Likely) benign	1 lab	cf9241d20f
15:65943127 SLC24A1 AGAG>A	15	65943127	65943147	AGAG	A	SLC24A1	c.2658_2660del	NM_004727.3	NP_004718.1:p.(Glu890del)	NC_000015.9:g.65943145_65943147del	(Likely) benign	1 lab	cf97dec612
8:1876742 ARHGEF10 AC>A	8	1876742	1876747	AC	A	ARHGEF10	c.2924del	NM_001308153.2	NP_001295082.1:p.(Pro975ArgfsTer8)	NC_000008.10:g.1876747del	VUS	1 lab	cf9c12c500
16:77393207 ADAMTS18 G>C	16	77393207	77393207	G	C	ADAMTS18	c.1322+8C>G	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77393207G>C	(Likely) benign	1 lab	cf9f2f467f
4:65155463 TECRL A>G	4	65155463	65155463	A	G	TECRL	c.797T>C	NM_001010874.5	NP_001010874.2:p.(Phe266Ser)	NC_000004.11:g.65155463A>G	VUS	1 lab	cfa053a866
12:112036800 ATXN2 C>T	12	112036800	112036800	C	T	ATXN2	c.39G>A	NM_002973.4	NP_002964.4:p.(Gln13=)	NC_000012.11:g.112036800C>T	(Likely) benign	1 lab	cfa115e9c4
10:16446125 MISSING Ref too long to show for this DEL>A	10	16446125	16489717	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.16446129_16489717del	VUS	1 lab	cfa31a21e9
10:112572970 RBM20 C>T	10	112572970	112572970	C	T	RBM20	c.2550+265C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112572970C>T	(Likely) benign	1 lab	cfa4111133
11:65635315 EFEMP2 G>A	11	65635315	65635315	G	A	EFEMP2	c.1170+17C>T	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65635315G>A	(Likely) benign	1 lab	cfa4869d1a
8:38913215 ADAM9 C>T	8	38913215	38913215	C	T	ADAM9	c.1515C>T	NM_003816.3	NP_003807.1:p.(Cys505=)	NC_000008.10:g.38913215C>T	(Likely) benign	1 lab	cfa49e648d
2:44078754 ABCG8 C>T	2	44078754	44078754	C	T	ABCG8	c.354C>T	NM_022437.3	NP_071882.1:p.(Ile118=)	NC_000002.11:g.44078754C>T	(Likely) benign	1 lab	cfa63dc914
10:11207642 CELF2 A>T	10	11207642	11207642	A	T	CELF2	c.175A>T	NM_001326330.2	NP_001313259.1:p.(Lys59Ter)	NC_000010.10:g.11207642A>T	(Likely) pathogenic	1 lab	cfadd56cc4
17:42427632 GRN G>A	17	42427632	42427632	G	A	GRN	c.386G>A	NM_002087.4	NP_002078.1:p.(Ser129Asn)	NC_000017.10:g.42427632G>A	(Likely) benign	1 lab	cfafddd475
9:136420683 ADAMTSL2 G>A	9	136420683	136420683	G	A	ADAMTSL2	c.1280G>A	NM_001145320.2	NP_001138792.1:p.(Arg427His)	NC_000009.11:g.136420683G>A	(Likely) benign	1 lab	cfb285ebdc
15:48704774 FBN1 T>C	15	48704774	48704774	T	C	FBN1	c.8218A>G	NM_000138.5	NP_000129.3:p.(Asn2740Asp)	NC_000015.9:g.48704774T>C	(Likely) benign	1 lab	cfb5ac557a
16:919863 LMF1 C>T	16	919863	919863	C	T	LMF1	c.1416+20G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.919863C>T	(Likely) benign	1 lab	cfb7b77720
1:235543476 TBCE TTGTG>T	1	235543476	235543529	TTGTG	T	TBCE	c.100+62_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543526_235543529del	(Likely) benign	1 lab	cfb844549c
2:238287799 COL6A3 G>A	2	238287799	238287799	G	A	COL6A3	c.1977C>T	NM_004369.4	NP_004360.2:p.(Arg659=)	NC_000002.11:g.238287799G>A	(Likely) benign	1 lab	cfbad8d010
8:133898968 TG C>T	8	133898968	133898968	C	T	TG	c.1351C>T	NM_003235.5	NP_003226.4:p.(Arg451Ter)	NC_000008.10:g.133898968C>T	(Likely) pathogenic	1 lab	cfbb525286
9:116930318 COL27A1 C>T	9	116930318	116930318	C	T	COL27A1	c.483C>T	NM_032888.4	NP_116277.2:p.(Leu161=)	NC_000009.11:g.116930318C>T	(Likely) benign	1 lab	cfbc1e635e
2:44049617 ABCG5 G>C	2	44049617	44049617	G	C	ABCG5	c.1463+319C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049617G>C	(Likely) benign	1 lab	cfbff10270
1:55512178 PCSK9 C>A	1	55512178	55512178	C	A	PCSK9	c.400-18C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512178C>A	(Likely) benign	1 lab	cfc069da5b
16:1020906 LMF1 C>T	16	1020906	1020906	C	T	LMF1	c.75G>A	NM_022773.4	NP_073610.2:p.(Pro25=)	NC_000016.9:g.1020906C>T	(Likely) benign	1 lab	cfc1a67485
10:69935098 MYPN G>A	10	69935098	69935098	G	A	MYPN	c.2583G>A	NM_032578.4	NP_115967.2:p.(Ala861=)	NC_000010.10:g.69935098G>A	(Likely) benign	1 lab	cfc228642e
1:1168576 B3GALT6 G>T	1	1168576	1168576	G	T	B3GALT6	c.918G>T	NM_080605.4	NP_542172.2:p.(Leu306=)	NC_000001.10:g.1168576G>T	(Likely) benign	1 lab	cfc8c769a6
6:121769121 GJA1 G>A	6	121769121	121769121	G	A	GJA1	c.1128G>A	NM_000165.5	NP_000156.1:p.(Arg376=)	NC_000006.11:g.121769121G>A	(Likely) benign	1 lab	cfcb59fae7
X:70443494 GJB1 T>C	X	70443494	70443494	T	C	GJB1	c.-16-48T>C	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443494T>C	(Likely) benign	1 lab	cfcfb33913
10:69955277 MYPN G>C	10	69955277	69955277	G	C	MYPN	c.3146G>C	NM_032578.4	NP_115967.2:p.(Gly1049Ala)	NC_000010.10:g.69955277G>C	VUS	1 lab	cfd06839d7
8:92365116 SLC26A7 G>A	8	92365116	92365116	G	A	SLC26A7	c.1219-13G>A	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92365116G>A	(Likely) benign	1 lab	cfefc9975d
6:38851731 DNAH8 TTGA>T	6	38851731	38851738	TTGA	T	DNAH8	c.8221_8223del	NM_001206927.2	NP_001193856.1:p.(Asp2741del)	NC_000006.11:g.38851736_38851738del	VUS	1 lab	cfd65f38c9
11:47370479 MYBPC3 T>TATATATATATATATATATATATATATATATA	11	47370479	47370480	T	TATATATATATATATATATATATATATATATA	MYBPC3	c.655-388_655-387insTATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370479_47370480insATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	cfd682142c
15:45401134 DUOX2 A>G	15	45401134	45401134	A	G	DUOX2	c.1251T>C	NM_014080.5	NP_054799.4:p.(Pro417=)	NC_000015.9:g.45401134A>G	(Likely) benign	1 lab	cfd7d1fc71
14:80669639 DIO2 T>TAA	14	80669639	80669654	T	TAA	DIO2	c.223-10_223-9dup	NM_000793.6	NP_000784.3:p.?	NC_000014.8:g.80669653_80669654dup	(Likely) benign	1 lab	cfdb2e2bce
5:149501461 PDGFRB C>T	5	149501461	149501461	C	T	PDGFRB	c.2326G>A	NM_002609.4	NP_002600.1:p.(Asp776Asn)	NC_000005.9:g.149501461C>T	VUS	1 lab	cfddd8c30c
19:45412495 APOE C>T	19	45412495	45412495	C	T	APOE	c.1020C>T	NM_001302688.2	NP_001289617.1:p.(Ser340=)	NC_000019.9:g.45412495C>T	(Likely) benign	1 lab	cfdebd8e2f
21:33032159 SOD1 G>A	21	33032159	33032159	G	A	SOD1	c.72+5G>A	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33032159G>A	(Likely) benign	1 lab	cfe669699c
18:19345850 MIB1 A>T	18	19345850	19345850	A	T	MIB1	c.347A>T	NM_020774.4	NP_065825.1:p.(Asp116Val)	NC_000018.9:g.19345850A>T	VUS	1 lab	cfeb6a4cfb
2:179418549 TTN C>T	2	179418549	179418549	C	T	TTN	c.89198-15G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179418549C>T	(Likely) benign	1 lab	cff08a0448
2:44059196 ABCG5 C>A	2	44059196	44059196	C	A	ABCG5	c.292G>T	NM_022436.3	NP_071881.1:p.(Ala98Ser)	NC_000002.11:g.44059196C>A	VUS	1 lab	cff1178331
3:48627672 COL7A1 G>C	3	48627672	48627672	G	C	COL7A1	c.2024C>G	NM_000094.4	NP_000085.1:p.(Pro675Arg)	NC_000003.11:g.48627672G>C	VUS	1 lab	cff3ed834b
12:122248600 SETD1B C>T	12	122248600	122248600	C	T	SETD1B	c.1749C>T	NM_001353345.2	NP_001340274.1:p.(Asp583=)	NC_000012.11:g.122248600C>T	(Likely) benign	1 lab	cff406d2ff
19:50766583 MYH14 G>A	19	50766583	50766583	G	A	MYH14	c.2600G>A	NM_001145809.2	NP_001139281.1:p.(Arg867His)	NC_000019.9:g.50766583G>A	(Likely) benign	1 lab	cff49228bc
22:20719110 MISSING Ref too long to show for this DEL>T	22	20719110	20844324	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.20719113_20844324del	(Likely) pathogenic	1 lab	cff5bd8880
6:7568415 DSP T>G	6	7568415	7568415	T	G	DSP	c.1267-255T>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568415T>G	(Likely) benign	1 lab	cff83e67a1
16:68849560 CDH1 C>T	16	68849560	68849560	C	T	CDH1	c.1463C>T	NM_004360.5	NP_004351.1:p.(Pro488Leu)	NC_000016.9:g.68849560C>T	VUS	1 lab	cfffd2f3bf
8:145583795 SLC52A2 C>T	8	145583795	145583795	C	T	SLC52A2	c.643C>T	NM_001363118.2	NP_001350047.1:p.(Leu215=)	NC_000008.10:g.145583795C>T	(Likely) benign	1 lab	d00094129b
19:11238996 LDLR C>T	19	11238996	11238996	C	T	LDLR	c.2389+235C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238996C>T	(Likely) benign	1 lab	d00182c134
17:48265492 COL1A1 C>T	17	48265492	48265492	C	T	COL1A1	c.3226G>A	NM_000088.4	NP_000079.2:p.(Gly1076Ser)	NC_000017.10:g.48265492C>T	(Likely) pathogenic	1 lab	d002bd6735
22:43790190 MISSING T>Alt too long to show for this DUP	22	43790190	43968217	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.43790191_43968217dup	VUS	1 lab	d003af07f0
X:70444296 GJB1 G>A	X	70444296	70444296	G	A	GJB1	c.739G>A	NM_000166.6	NP_000157.1:p.(Glu247Lys)	NC_000023.10:g.70444296G>A	(Likely) pathogenic	1 lab	d006851628
2:44104706 ABCG8 C>A	2	44104706	44104706	C	A	ABCG8	c.1763C>A	NM_022437.3	NP_071882.1:p.(Ala588Glu)	NC_000002.11:g.44104706C>A	VUS	1 lab	d008ff2ad1
14:91804416 CCDC88C A>C	14	91804416	91804416	A	C	CCDC88C	c.983T>G	NM_001080414.4	NP_001073883.2:p.(Leu328Arg)	NC_000014.8:g.91804416A>C	VUS	1 lab	d00abcc42b
19:1220517 STK11 TA>T	19	1220517	1220518	TA	T	STK11	c.597+14del	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220518del	(Likely) benign	1 lab	d00ae25448
22:50895121 SBF1 G>A	22	50895121	50895121	G	A	SBF1	c.3905-19C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50895121G>A	(Likely) benign	1 lab	d00e31f1b2
2:105979871 FHL2 C>A	2	105979871	105979871	C	A	FHL2	c.559G>T	NM_201555.2	NP_963849.1:p.(Val187Leu)	NC_000002.11:g.105979871C>A	VUS	1 lab	d01221b845
X:49082487 CACNA1F C>T	X	49082487	49082487	C	T	CACNA1F	c.1568G>A	NM_005183.4	NP_005174.2:p.(Arg523His)	NC_000023.10:g.49082487C>T	(Likely) benign	1 lab	d012246892
5:118829591 HSD17B4 GGAA>G	5	118829591	118829599	GGAA	G	HSD17B4	c.824_826del	NM_000414.4	NP_000405.1:p.(Lys275del)	NC_000005.9:g.118829597_118829599del	(Likely) pathogenic	1 lab	d012bef803
7:81695858 CACNA2D1 AG>A	7	81695858	81695859	AG	A	CACNA2D1	c.659-19del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695859del	(Likely) benign	1 lab	d0138613ec
9:139401769 NOTCH1 G>A	9	139401769	139401769	G	A	NOTCH1	c.3631C>T	NM_017617.5	NP_060087.3:p.(Arg1211Trp)	NC_000009.11:g.139401769G>A	VUS	1 lab	d017595914
12:125323785 SCARB1 C>T	12	125323785	125323785	C	T	SCARB1	c.127-21532G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125323785C>T	(Likely) benign	1 lab	d019c3d478
6:72961053 RIMS1 T>G	6	72961053	72961053	T	G	RIMS1	c.2680T>G	NM_014989.6	NP_055804.2:p.(Ser894Ala)	NC_000006.11:g.72961053T>G	(Likely) benign	1 lab	d0355cba78
19:1220518 STK11 A>AG	19	1220518	1220525	A	AG	STK11	c.597+21dup	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220525dup	(Likely) benign	1 lab	d01ddf7601
15:67073672 SMAD6 G>GC	15	67073672	67073678	G	GC	SMAD6	c.1296dup	NM_005585.5	NP_005576.3:p.(Gly433ArgfsTer132)	NC_000015.9:g.67073678dup	VUS	1 lab	d01eae8c7b
5:79950708 MSH3 TGCAGCGGCC>T	5	79950708	79950732	TGCAGCGGCC	T	MSH3	c.178_186del	NM_002439.5	NP_002430.3:p.(Ala60_Ala62del)	NC_000005.9:g.79950724_79950732del	(Likely) benign	1 lab	d0225b07ef
5:149512405 PDGFRB C>T	5	149512405	149512405	C	T	PDGFRB	c.1035G>A	NM_002609.4	NP_002600.1:p.(Pro345=)	NC_000005.9:g.149512405C>T	(Likely) benign	1 lab	d023134137
2:179434139 TTN-AS1 A>G	2	179434139	179434139	A	G	TTN-AS1	n.2044-13160A>G	NR_038272.1		NC_000002.11:g.179434139A>G	(Likely) benign	1 lab	d0284cec77
19:36398362 TYROBP C>G	19	36398362	36398362	C	G	TYROBP	c.215G>C	NM_003332.4	NP_003323.1:p.(Arg72Pro)	NC_000019.9:g.36398362C>G	(Likely) benign	1 lab	d02c3cfb51
1:236899955 ACTN2 A>G	1	236899955	236899955	A	G	ACTN2	c.146A>G	NM_001278344.2	NP_001265273.1:p.(Asn49Ser)	NC_000001.10:g.236899955A>G	VUS	1 lab	d03242c43c
1:94466658 ABCA4 C>T	1	94466658	94466658	C	T	ABCA4	c.6286G>A	NM_000350.3	NP_000341.2:p.(Glu2096Lys)	NC_000001.10:g.94466658C>T	(Likely) pathogenic	1 lab	d032f0e354
12:122257702 SETD1B G>A	12	122257702	122257702	G	A	SETD1B	c.3811G>A	NM_001353345.2	NP_001340274.1:p.(Glu1271Lys)	NC_000012.11:g.122257702G>A	(Likely) benign	1 lab	d033271de9
17:41215391 BRCA1 CT>C	17	41215391	41215392	CT	C	BRCA1	c.5153-2del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215392del	(Likely) pathogenic	1 lab	d035e4db8b
12:50498532 GPD1 G>A	12	50498532	50498532	G	A	GPD1	c.217G>A	NM_005276.4	NP_005267.2:p.(Val73Met)	NC_000012.11:g.50498532G>A	VUS	1 lab	d03676cef2
1:6530670 PLEKHG5 T>C	1	6530670	6530670	T	C	PLEKHG5	c.1576A>G	NM_198681.4	NP_941374.3:p.(Asn526Asp)	NC_000001.10:g.6530670T>C	VUS	1 lab	d03e8b7cf9
19:42776281 CIC C>T	19	42776281	42776281	C	T	CIC	c.346C>T	NM_001304815.2	NP_001291744.1:p.(Arg116Ter)	NC_000019.9:g.42776281C>T	VUS	1 lab	d03fc9c189
11:118499300 PHLDB1 C>T	11	118499300	118499300	C	T	PHLDB1	c.1761C>T	NM_001144758.3	NP_001138230.1:p.(Asp587=)	NC_000011.9:g.118499300C>T	(Likely) benign	1 lab	d0400a3b3e
9:107548626 ABCA1 G>A	9	107548626	107548626	G	A	ABCA1	c.6354C>T	NM_005502.4	NP_005493.2:p.(Val2118=)	NC_000009.11:g.107548626G>A	(Likely) benign	1 lab	d0479805f8
2:48033742 MSH6 G>GAAAAGCAAGAGAATTTGA	2	48033742	48033760	G	GAAAAGCAAGAGAATTTGA	MSH6	c.3954_3971dup	NM_000179.3	NP_000170.1:p.(Ala1320_Lys1325dup)	NC_000002.11:g.48033743_48033760dup	VUS	1 lab	d048f3a0dd
5:95730555 PCSK1 G>C	5	95730555	95730555	G	C	PCSK1	c.1884+13C>G	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95730555G>C	(Likely) benign	1 lab	d0490231e5
10:68526018 CTNNA3 T>C	10	68526018	68526018	T	C	CTNNA3	c.1281+4A>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68526018T>C	(Likely) benign	1 lab	d049b97d9a
7:91737906 AKAP9 G>A	7	91737906	91737906	G	A	AKAP9	c.11645G>A	NM_005751.5	NP_005742.4:p.(Arg3882Gln)	NC_000007.13:g.91737906G>A	VUS	1 lab	d04a03962b
11:68178975 LRP5 T>TG	11	68178975	68178976	T	TG	LRP5	c.2391dup	NM_002335.4	NP_002326.2:p.(Thr798AspfsTer15)	NC_000011.9:g.68178976dup	(Likely) pathogenic	1 lab	d04a7c94a8
16:23646663 PALB2 G>T	16	23646663	23646663	G	T	PALB2	c.1204C>A	NM_024675.4	NP_078951.2:p.(Leu402Ile)	NC_000016.9:g.23646663G>T	(Likely) benign	1 lab	d04c48b7c0
12:56631452 SLC39A5 C>T	12	56631452	56631452	C	T	SLC39A5	c.1560C>T	NM_173596.3	NP_775867.2:p.(Gly520=)	NC_000012.11:g.56631452C>T	(Likely) benign	1 lab	d04dbe01f2
2:44079970 ABCG8 C>A	2	44079970	44079970	C	A	ABCG8	c.927C>A	NM_022437.3	NP_071882.1:p.(Tyr309Ter)	NC_000002.11:g.44079970C>A	(Likely) pathogenic	1 lab	d04e1c3045
18:43723578 MISSING Ref too long to show for this DEL>T	18	43723578	43769305	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.43723579_43769305del	VUS	1 lab	d050c4a056
14:76432052 TGFB3 C>T	14	76432052	76432052	C	T	TGFB3	c.647-14G>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76432052C>T	(Likely) benign	1 lab	d052a525fc
6:17440379 MISSING Ref too long to show for this DEL>A	6	17440379	17964965	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.17440380_17964965del	VUS	1 lab	d0583dd28f
2:88084664 RGPD2 T>A	2	88084664	88084664	T	A	RGPD2	c.2606A>T	NM_001078170.2	NP_001071638.2:p.(Tyr869Phe)	NC_000002.11:g.88084664T>A	(Likely) benign	1 lab	d059d58192
12:132547093 EP400 ACAGCAGCAGCAGCAGCAGCAG>A	12	132547093	132547137	ACAGCAGCAGCAGCAGCAGCAG	A	EP400	c.8205_8225del	NM_015409.5	NP_056224.3:p.(Gln2742_Gln2748del)	NC_000012.11:g.132547117_132547137del	(Likely) benign	1 lab	d060155588
X:63411488 AMER1 C>T	X	63411488	63411488	C	T	AMER1	c.1679G>A	NM_152424.4	NP_689637.3:p.(Arg560Gln)	NC_000023.10:g.63411488C>T	VUS	1 lab	d062b8560f
19:55316363 KIR2DL4 G>A	19	55316363	55316363	G	A	KIR2DL4	c.192G>A	NM_001080772.2	NP_001074241.1:p.(Lys64=)	NC_000019.9:g.55316363G>A	(Likely) benign	1 lab	d06311547f
2:21231020 APOB C>T	2	21231020	21231020	C	T	APOB	c.8720G>A	NM_000384.3	NP_000375.3:p.(Arg2907His)	NC_000002.11:g.21231020C>T	(Likely) benign	1 lab	d09bbdad5e
9:139417381 NOTCH1 G>A	9	139417381	139417381	G	A	NOTCH1	c.663C>T	NM_017617.5	NP_060087.3:p.(Pro221=)	NC_000009.11:g.139417381G>A	(Likely) benign	1 lab	d068f41508
11:47360408 MYBPC3 C>G	11	47360408	47360408	C	G	MYBPC3	c.2149-178G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360408C>G	(Likely) benign	1 lab	d0699da48e
7:120603862 MISSING C>Alt too long to show for this DUP	7	120603862	120680526	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.120603863_120680526dup	VUS	1 lab	d06b09b80c
9:6550882 GLDC C>A	9	6550882	6550882	C	A	GLDC	c.2490G>T	NM_000170.3	NP_000161.2:p.(Thr830=)	NC_000009.11:g.6550882C>A	(Likely) benign	1 lab	d06b2be91e
20:25371332 ABHD12 T>C	20	25371332	25371332	T	C	ABHD12	c.8A>G	NM_001042472.3	NP_001035937.1:p.(Lys3Arg)	NC_000020.10:g.25371332T>C	VUS	1 lab	d06c2bdc46
11:47355144 MYBPC3 T>C	11	47355144	47355144	T	C	MYBPC3	c.3154A>G	NM_000256.3	NP_000247.2:p.(Met1052Val)	NC_000011.9:g.47355144T>C	VUS	1 lab	d06c5a5b6f
13:32953505 BRCA2 T>C	13	32953505	32953505	T	C	BRCA2	c.8806T>C	NM_000059.4	NP_000050.3:p.(Leu2936=)	NC_000013.10:g.32953505T>C	(Likely) benign	1 lab	d06e5f8d01
4:100543895 MTTP AAAG>A	4	100543895	100543900	AAAG	A	MTTP	c.2578_2580del	NM_000253.4	NP_000244.2:p.(Glu860del)	NC_000004.11:g.100543898_100543900del	VUS	1 lab	d0706df872
2:179463763 TTN T>G	2	179463763	179463763	T	G	TTN	c.48970A>C	NM_133378.4	NP_596869.4:p.(Thr16324Pro)	NC_000002.11:g.179463763T>G	VUS	1 lab	d071b0a3b6
12:133209274 POLE C>T	12	133209274	133209274	C	T	POLE	c.6112G>A	NM_006231.4	NP_006222.2:p.(Glu2038Lys)	NC_000012.11:g.133209274C>T	VUS	1 lab	d07290fa0b
6:45390588 RUNX2 TCG>T	6	45390588	45390591	TCG	T	RUNX2	c.277_278del	NM_001369405.1	NP_001356334.1:p.(Ala93ArgfsTer53)	NC_000006.11:g.45390590_45390591del	(Likely) pathogenic	1 lab	d07308ef4e
X:135291466 FHL1 C>T	X	135291466	135291466	C	T	FHL1	c.753C>T	NM_001369326.1	NP_001356255.1:p.(His251=)	NC_000023.10:g.135291466C>T	(Likely) benign	1 lab	d073a4f07d
8:19796592 LPL G>T	8	19796592	19796592	G	T	LPL				NC_000008.10:g.19796592G>T	(Likely) benign	1 lab	d0781ce423
12:125292012 SCARB1 C>T	12	125292012	125292012	C	T	SCARB1	c.1009+295G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125292012C>T	(Likely) benign	1 lab	d079fcef7e
11:47361253 MYBPC3 A>AG	11	47361253	47361256	A	AG	MYBPC3	c.2015dup	NM_000256.3	NP_000247.2:p.(Ile673TyrfsTer20)	NC_000011.9:g.47361256dup	(Likely) pathogenic	1 lab	d07f33b6e7
X:69496339 ARR3 A>G	X	69496339	69496339	A	G	ARR3	c.402A>G	NM_004312.3	NP_004303.2:p.(Gly134=)	NC_000023.10:g.69496339A>G	(Likely) benign	1 lab	d080ff6ea6
5:141052416 ARAP3 G>T	5	141052416	141052416	G	T	ARAP3	c.1170C>A	NM_022481.6	NP_071926.4:p.(Pro390=)	NC_000005.9:g.141052416G>T	(Likely) benign	1 lab	d081d10ad5
9:113496549 MUSK G>A	9	113496549	113496549	G	A	MUSK	c.647G>A	NM_005592.4	NP_005583.1:p.(Arg216Gln)	NC_000009.11:g.113496549G>A	VUS	1 lab	d081d11e20
4:188524673 MISSING Ref too long to show for this DEL>G	4	188524673	190069682	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.188524676_190069682del	VUS	1 lab	d0824d406a
16:1003961 LMF1 CCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA>C	16	1003961	1004031	CCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA	C	LMF1	c.503+326_503+395del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003962_1004031del	(Likely) benign	1 lab	d08a43a1cf
10:95353668 RBP4 G>A	10	95353668	95353668	G	A	RBP4	c.480C>T	NM_006744.4	NP_006735.2:p.(Asn160=)	NC_000010.10:g.95353668G>A	(Likely) benign	1 lab	d08d1beeb9
2:44566504 PREPL T>TAG	2	44566504	44566521	T	TAG	PREPL	c.753-4_753-3dup	NM_006036.4	NP_006027.2:p.?	NC_000002.11:g.44566520_44566521dup	(Likely) benign	1 lab	d08e49790b
9:107645477 ABCA1 G>T	9	107645477	107645477	G	T	ABCA1	c.303-39C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645477G>T	(Likely) benign	1 lab	d0901f0229
3:57233953 HESX1 G>C	3	57233953	57233953	G	C	HESX1	c.-7C>G	NM_003865.3	NP_003856.1:p.?	NC_000003.11:g.57233953G>C	(Likely) benign	1 lab	d090e72eaa
9:107546614 ABCA1 C>T	9	107546614	107546614	C	T	ABCA1	c.6768G>A	NM_005502.4	NP_005493.2:p.(Val2256=)	NC_000009.11:g.107546614C>T	(Likely) benign	1 lab	d0933a1d44
11:95568524 MTMR2 C>T	11	95568524	95568524	C	T	MTMR2	c.1646G>A	NM_001243571.2	NP_001230500.1:p.(Arg549Gln)	NC_000011.9:g.95568524C>T	VUS	1 lab	d0955336b7
1:1720670 GNB1 G>A	1	1720670	1720670	G	A	GNB1	c.738C>T	NM_002074.5	NP_002065.1:p.(Asp246=)	NC_000001.10:g.1720670G>A	(Likely) benign	1 lab	d095a7900e
12:64875787 TBK1 T>A	12	64875787	64875787	T	A	TBK1	c.978T>A	NM_013254.4	NP_037386.1:p.(Ile326=)	NC_000012.11:g.64875787T>A	(Likely) benign	1 lab	d096f3c609
1:215367766 KCNK2 Ref too long to show for this DEL>G	1	215367766	215384239	Ref too long to show for this DEL	G	KCNK2	c.824-529_963+15804del	NM_001017425.3	NP_001017425.2:p.?	NC_000001.10:g.215367767_215384239del	VUS	1 lab	d096ff238f
22:31330134 MORC2 T>C	22	31330134	31330134	T	C	MORC2	c.2052A>G	NM_014941.3	NP_055756.1:p.(Glu684=)	NC_000022.10:g.31330134T>C	(Likely) benign	1 lab	d09bbb9f95
5:33580179 ADAMTS12 A>Alt too long to show for this DUP	5	33580179	33678085	A	Alt too long to show for this DUP	ADAMTS12	c.915+5039_2866-2915dup	NM_030955.4	NP_112217.2:p.?	NC_000005.9:g.33580181_33678085dup	VUS	1 lab	d09d87941a
16:15520031 MISSING A>Alt too long to show for this DUP	16	15520031	16294705	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15520032_16294705dup	(Likely) pathogenic	1 lab	d0a0be621d
4:73943187 ANKRD17 G>C	4	73943187	73943187	G	C	ANKRD17	c.7133C>G	NM_001286771.3	NP_001273700.1:p.(Pro2378Arg)	NC_000004.11:g.73943187G>C	VUS	1 lab	d0a0c58287
4:114294471 ANK2 T>C	4	114294471	114294471	T	C	ANK2	c.11725T>C	NM_001148.6	NP_001139.3:p.(Ser3909Pro)	NC_000004.11:g.114294471T>C	(Likely) benign	1 lab	d0a139d834
5:16572153 RETREG1 G>A	5	16572153	16572153	G	A	RETREG1	c.379C>T	NM_001034850.3	NP_001030022.1:p.(Arg127Cys)	NC_000005.9:g.16572153G>A	(Likely) benign	1 lab	d0a6e6091b
2:179575448 TTN A>G	2	179575448	179575448	A	G	TTN	c.28376T>C	NM_001267550.2	NP_001254479.2:p.(Val9459Ala)	NC_000002.11:g.179575448A>G	VUS	1 lab	d0a8b5a6d2
7:100421410 EPHB4 C>T	7	100421410	100421410	C	T	EPHB4	c.267G>A	NM_004444.5	NP_004435.3:p.(Thr89=)	NC_000007.13:g.100421410C>T	(Likely) benign	1 lab	d0b07390e7
6:32046944 TNXB C>T	6	32046944	32046944	C	T	TNXB	c.4241G>A	NM_019105.8	NP_061978.6:p.(Arg1414Gln)	NC_000006.11:g.32046944C>T	(Likely) benign	1 lab	d0b2979cb7
15:67435828 SMAD3 A>AAC	15	67435828	67435829	A	AAC	SMAD3	c.207-21405_207-21404insAC	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67435828_67435829insAC	(Likely) benign	1 lab	d0b5387084
16:84050295 SLC38A8 C>A	16	84050295	84050295	C	A	SLC38A8	c.991G>T	NM_001080442.3	NP_001073911.1:p.(Gly331Trp)	NC_000016.9:g.84050295C>A	VUS	1 lab	d0b5a175f0
9:107567416 ABCA1 C>T	9	107567416	107567416	C	T	ABCA1	c.4465-415G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107567416C>T	(Likely) benign	1 lab	d0b60d68a6
7:150649599 KCNH2 C>T	7	150649599	150649599	C	T	KCNH2	c.1471G>A	NM_000238.4	NP_000229.1:p.(Val491Ile)	NC_000007.13:g.150649599C>T	VUS	1 lab	d0b6fc0e85
2:241686636 KIF1A G>A	2	241686636	241686636	G	A	KIF1A	c.3063+17C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241686636G>A	(Likely) benign	1 lab	d0ba538ba8
8:3926022 CSMD1 Ref too long to show for this DEL>A	8	3926022	4026096	Ref too long to show for this DEL	A	CSMD1	c.416-136474_416-36402del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3926024_4026096del	VUS	1 lab	d0bb113868
9:107556416 ABCA1 G>A	9	107556416	107556416	G	A	ABCA1	c.5506+252C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556416G>A	(Likely) benign	1 lab	d0c15859dc
19:50321858 MED25 G>A	19	50321858	50321858	G	A	MED25	c.165G>A	NM_030973.4	NP_112235.2:p.(Thr55=)	NC_000019.9:g.50321858G>A	(Likely) benign	1 lab	d0c35e89f4
2:1499870 TPO A>G	2	1499870	1499870	A	G	TPO	c.2116A>G	NM_000547.6	NP_000538.3:p.(Met706Val)	NC_000002.11:g.1499870A>G	(Likely) benign	1 lab	d0c760dec7
6:150690236 IYD C>G	6	150690236	150690236	C	G	IYD	c.69C>G	NM_001164694.2	NP_001158166.1:p.(Ala23=)	NC_000006.11:g.150690236C>G	(Likely) benign	1 lab	d0c810d1d4
10:18439784 CACNB2 C>CTTTTTTTT	10	18439784	18439809	C	CTTTTTTTT	CACNB2	c.37-10_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439802_18439809dup	(Likely) benign	1 lab	d0ca17f8fd
2:189864376 COL3A1 A>G	2	189864376	189864376	A	G	COL3A1	c.2229+73A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864376A>G	(Likely) benign	1 lab	d0cade05f9
9:137623089 COL5A1 C>T	9	137623089	137623089	C	T	COL5A1	c.1165-253C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623089C>T	(Likely) benign	1 lab	d0cb51c781
9:2037785 MISSING A>Alt too long to show for this DUP	9	2037785	2210994	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.2037787_2210994dup	VUS	1 lab	d0cd4a1add
12:116550259 MED13L Ref too long to show for this DEL>A	12	116550259	116591442	Ref too long to show for this DEL	A	MED13L	c.311-42125_311-943del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116550260_116591442del	(Likely) pathogenic	1 lab	d0cdfbb785
13:103518237 ERCC5 C>T	13	103518237	103518237	C	T	ERCC5	c.2175C>T	NM_000123.4	NP_000114.3:p.(Leu725=)	NC_000013.10:g.103518237C>T	(Likely) benign	1 lab	d0ce492cb1
8:133935617 TG G>A	8	133935617	133935617	G	A	TG	c.4563G>A	NM_003235.5	NP_003226.4:p.(Leu1521=)	NC_000008.10:g.133935617G>A	(Likely) benign	1 lab	d0d26c12a6
14:45605753 FANCM C>T	14	45605753	45605753	C	T	FANCM	c.508+11C>T	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45605753C>T	(Likely) benign	1 lab	d0d2d0a464
7:44104896 PGAM2 C>T	7	44104896	44104896	C	T	PGAM2	c.233G>A	NM_000290.4	NP_000281.2:p.(Trp78Ter)	NC_000007.13:g.44104896C>T	(Likely) pathogenic	1 lab	d0d75fb6c2
8:48216216 SPIDR Ref too long to show for this DEL>T	8	48216216	48239032	Ref too long to show for this DEL	T	SPIDR	c.525+9599_525+32413del	NM_001080394.4	NP_001073863.1:p.?	NC_000008.10:g.48216218_48239032del	VUS	1 lab	d0d84cd667
19:1153822 MISSING Ref too long to show for this DEL>C	19	1153822	1223163	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.1153826_1223163del	(Likely) pathogenic	1 lab	d0d924e42e
7:44153539 AEBP1 G>C	7	44153539	44153539	G	C	AEBP1	c.3156G>C	NM_001129.5	NP_001120.3:p.(Thr1052=)	NC_000007.13:g.44153539G>C	(Likely) benign	1 lab	d0d9316940
11:116661614 APOA5 T>C	11	116661614	116661614	T	C	APOA5	c.331A>G	NM_052968.5	NP_443200.2:p.(Met111Val)	NC_000011.9:g.116661614T>C	VUS	1 lab	d0d9747417
2:179469697 TTN G>C	2	179469697	179469697	G	C	TTN	c.54190+17C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179469697G>C	(Likely) benign	1 lab	d0dafcf0de
X:37532315 MISSING T>Alt too long to show for this DUP	X	37532315	37549799	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37532316_37549799dup	VUS	1 lab	d0dbb7af07
12:125271984 SCARB1 G>A	12	125271984	125271984	G	A	SCARB1	c.1222C>T	NM_001367981.1	NP_001354910.1:p.(Pro408Ser)	NC_000012.11:g.125271984G>A	VUS	1 lab	d124284ede
1:74902220 FPGT-TNNI3K T>C	1	74902220	74902220	T	C	FPGT-TNNI3K	c.2181+10T>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74902220T>C	(Likely) benign	1 lab	d0e078a966
9:107651417 ABCA1 A>G	9	107651417	107651417	A	G	ABCA1	c.126T>C	NM_005502.4	NP_005493.2:p.(Val42=)	NC_000009.11:g.107651417A>G	(Likely) benign	1 lab	d0e446320c
1:94528117 ABCA4 C>T	1	94528117	94528117	C	T	ABCA4	c.1937+16G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94528117C>T	(Likely) benign	1 lab	d0e609751e
7:48495657 ABCA13 Ref too long to show for this DEL>T	7	48495657	48614505	Ref too long to show for this DEL	T	ABCA13	c.12815+775_14355-5315del	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48495658_48614505del	VUS	1 lab	d0e7a6420b
7:6037057 PMS2 GAAA>G	7	6037057	6037074	GAAA	G	PMS2	c.706-6_706-4del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037072_6037074del	(Likely) benign	1 lab	d0eaa63797
11:46329479 CREB3L1 T>G	11	46329479	46329479	T	G	CREB3L1	c.444T>G	NM_052854.4	NP_443086.1:p.(Ala148=)	NC_000011.9:g.46329479T>G	(Likely) benign	1 lab	d0ebe35f88
4:15985901 PROM1 G>A	4	15985901	15985901	G	A	PROM1	c.2331C>T	NM_001145847.2	NP_001139319.1:p.(Tyr777=)	NC_000004.11:g.15985901G>A	(Likely) benign	1 lab	d0ed3668d0
20:42743531 JPH2 G>A	20	42743531	42743531	G	A	JPH2	c.2011-15C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42743531G>A	(Likely) benign	1 lab	d0ee5f9c55
1:156845889 NTRK1 C>T	1	156845889	156845889	C	T	NTRK1	c.1519C>T	NM_002529.4	NP_002520.2:p.(Arg507Cys)	NC_000001.10:g.156845889C>T	VUS	1 lab	d0f07581f4
3:52676064 PBRM1 A>AT	3	52676064	52676065	A	AT	PBRM1	c.1050-4_1050-3insA	NM_001350077.2	NP_001337006.1:p.?	NC_000003.11:g.52676064_52676065insT	(Likely) benign	1 lab	d0f1c48c94
7:150644766 KCNH2 C>CG	7	150644766	150644772	C	CG	KCNH2	c.2892dup	NM_000238.4	NP_000229.1:p.(Gly965ArgfsTer154)	NC_000007.13:g.150644772dup	(Likely) pathogenic	1 lab	d0f32034d1
16:49660183 ZNF423 A>G	16	49660183	49660183	A	G	ZNF423	c.3313-18T>C	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49660183A>G	(Likely) benign	1 lab	d0f411a992
2:179650583 TTN A>G	2	179650583	179650583	A	G	TTN	c.2362T>C	NM_001267550.2	NP_001254479.2:p.(Ser788Pro)	NC_000002.11:g.179650583A>G	VUS	1 lab	d0f550d30d
12:2788739 CACNA1C G>A	12	2788739	2788739	G	A	CACNA1C	c.5221G>A	NM_001167623.2	NP_001161095.1:p.(Glu1741Lys)	NC_000012.11:g.2788739G>A	VUS	1 lab	d1114cbe77
18:7808973 PTPRM Ref too long to show for this DEL>C	18	7808973	8052088	Ref too long to show for this DEL	C	PTPRM	c.196+34705_1133-17596del	NM_001105244.2	NP_001098714.1:p.?	NC_000018.9:g.7808974_8052088del	VUS	1 lab	d0f620ba4d
9:137696636 COL5A1 G>C	9	137696636	137696636	G	C	COL5A1	c.3115-185G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137696636G>C	(Likely) benign	1 lab	d0f6a1f453
7:6509439 KDELR2 C>T	7	6509439	6509439	C	T	KDELR2	c.193-54G>A	NM_006854.4	NP_006845.1:p.?	NC_000007.13:g.6509439C>T	(Likely) benign	1 lab	d0f707009c
19:8651457 ADAMTS10 T>C	19	8651457	8651457	T	C	ADAMTS10	c.2388A>G	NM_030957.4	NP_112219.3:p.(Ala796=)	NC_000019.9:g.8651457T>C	(Likely) benign	1 lab	d0fcd2cfb1
8:19811637 LPL A>G	8	19811637	19811637	A	G	LPL	c.548A>G	NM_000237.3	NP_000228.1:p.(Asp183Gly)	NC_000008.10:g.19811637A>G	(Likely) pathogenic	1 lab	d0fd079d65
20:10388360 MKKS C>T	20	10388360	10388360	C	T	MKKS	c.1176G>A	NM_018848.3	NP_061336.1:p.(Thr392=)	NC_000020.10:g.10388360C>T	(Likely) benign	1 lab	d0ff52bd00
7:37272769 ELMO1 C>T	7	37272769	37272769	C	T	ELMO1	c.480G>A	NM_001206482.2	NP_001193411.1:p.(Thr160=)	NC_000007.13:g.37272769C>T	(Likely) benign	1 lab	d101bf37e7
1:116311048 CASQ2 C>T	1	116311048	116311048	C	T	CASQ2	c.115G>A	NM_001232.4	NP_001223.2:p.(Glu39Lys)	NC_000001.10:g.116311048C>T	(Likely) pathogenic	1 lab	d1056c1dff
16:89349722 ANKRD11 CCTTT>C	16	89349722	89349730	CCTTT	C	ANKRD11	c.3224_3227del	NM_001256182.2	NP_001243111.1:p.(Glu1075GlyfsTer242)	NC_000016.9:g.89349727_89349730del	(Likely) pathogenic	1 lab	d1219cdbd4
19:38954118 RYR1 A>AGAGCTCTGGG	19	38954118	38954119	A	AGAGCTCTGGG	RYR1	c.2633_2634insGAGCTCTGGG	NM_000540.3	NP_000531.2:p.(His878GlnfsTer24)	NC_000019.9:g.38954118_38954119insGAGCTCTGGG	(Likely) pathogenic	1 lab	d106a38e9d
5:82785981 VCAN T>C	5	82785981	82785981	T	C	VCAN	c.135T>C	NM_004385.5	NP_004376.2:p.(His45=)	NC_000005.9:g.82785981T>C	(Likely) benign	1 lab	d10749cb76
X:119677595 CUL4B CTAAG>C	X	119677595	119677606	CTAAG	C	CUL4B	c.1293_1296del	NM_003588.4	NP_003579.3:p.(Tyr431Ter)	NC_000023.10:g.119677603_119677606del	(Likely) pathogenic	1 lab	d10c3cf117
15:76393989 MISSING A>Alt too long to show for this DUP	15	76393989	76831697	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.76393990_76831697dup	VUS	1 lab	d10cedf896
9:107579383 ABCA1 C>T	9	107579383	107579383	C	T	ABCA1	c.3535+230G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579383C>T	(Likely) benign	1 lab	d11346c503
1:180842919 XPR1 A>T	1	180842919	180842919	A	T	XPR1	c.1669-20A>T	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180842919A>T	(Likely) benign	1 lab	d117391e3d
16:1004207 LMF1 T>C	16	1004207	1004207	T	C	LMF1	c.-52+150A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004207T>C	(Likely) benign	1 lab	d117abf4f8
2:179610453 TTN CCTT>C	2	179610453	179610460	CCTT	C	TTN	c.16671_16673del	NM_133379.5	NP_596870.2:p.(Arg5558del)	NC_000002.11:g.179610458_179610460del	(Likely) benign	1 lab	d117b5e3c6
14:45623285 FANCM A>G	14	45623285	45623285	A	G	FANCM	c.1183+30A>G	NM_020937.4	NP_065988.1:p.?	NC_000014.8:g.45623285A>G	(Likely) benign	1 lab	d11ca4e792
7:75933416 HSPB1 C>T	7	75933416	75933416	C	T	HSPB1	c.544C>T	NM_001540.5	NP_001531.1:p.(Pro182Ser)	NC_000007.13:g.75933416C>T	(Likely) pathogenic	1 lab	d11db3cf20
17:48276823 COL1A1 T>C	17	48276823	48276823	T	C	COL1A1	c.334-9A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48276823T>C	(Likely) pathogenic	1 lab	d120fcef7e
17:21320426 KCNJ12 T>A	17	21320426	21320426	T	A	KCNJ12	c.*470T>A	NM_021012.5	NP_066292.2:p.?	NC_000017.10:g.21320426T>A	(Likely) benign	1 lab	d12704da69
X:119602950 LAMP2 C>G	X	119602950	119602950	C	G	LAMP2	c.64+11G>C	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119602950C>G	(Likely) benign	1 lab	d1284f05a6
1:164776835 PBX1 A>G	1	164776835	164776835	A	G	PBX1	c.758A>G	NM_002585.4	NP_002576.1:p.(Tyr253Cys)	NC_000001.10:g.164776835A>G	VUS	1 lab	d128eb8614
2:179439440 TTN A>G	2	179439440	179439440	A	G	TTN	c.71419T>C	NM_001267550.2	NP_001254479.2:p.(Tyr23807His)	NC_000002.11:g.179439440A>G	VUS	1 lab	d1295690e7
11:17526254 USH1C GA>G	11	17526254	17526266	GA	G	USH1C	c.2134-11del	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17526266del	(Likely) benign	1 lab	d12ad1ac97
2:179463358 TTN T>G	2	179463358	179463358	T	G	TTN	c.56986A>C	NM_001267550.2	NP_001254479.2:p.(Lys18996Gln)	NC_000002.11:g.179463358T>G	VUS	1 lab	d12bc7d572
16:1004957 LMF1 TCC>T	16	1004957	1004959	TCC	T	LMF1	c.194-293_194-292del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004958_1004959del	(Likely) benign	1 lab	d12e6ba826
8:6390027 ANGPT2 A>G	8	6390027	6390027	A	G	ANGPT2	c.289-19T>C	NM_001147.3	NP_001138.1:p.?	NC_000008.10:g.6390027A>G	(Likely) benign	1 lab	d12f500943
2:210858095 UNC80 A>G	2	210858095	210858095	A	G	UNC80	c.9255A>G	NM_032504.2	NP_115893.1:p.(Gln3085=)	NC_000002.11:g.210858095A>G	(Likely) benign	1 lab	d12f864092
1:218609776 TGFB2 C>T	1	218609776	218609776	C	T	TGFB2	c.932+287C>T	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218609776C>T	(Likely) benign	1 lab	d131443869
14:23887577 MYH7 C>CCGGGCCGACTG	14	23887577	23887589	C	CCGGGCCGACTG	MYH7	c.4000_4010dup	NM_000257.4	NP_000248.2:p.(His1338SerfsTer95)	NC_000014.8:g.23887579_23887589dup	VUS	1 lab	d13669d226
1:74489334 MISSING G>Alt too long to show for this DUP	1	74489334	74709100	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.74489337_74709100dup	VUS	1 lab	d139afebbe
16:1004694 LMF1 A>G	16	1004694	1004694	A	G	LMF1	c.-361-28T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004694A>G	(Likely) benign	1 lab	d13a9e4954
8:19813446 LPL G>A	8	19813446	19813446	G	A	LPL	c.870G>A	NM_000237.3	NP_000228.1:p.(Arg290=)	NC_000008.10:g.19813446G>A	(Likely) benign	1 lab	d13bf528e2
X:49074484 CACNA1F T>G	X	49074484	49074484	T	G	CACNA1F	c.2962-20A>C	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49074484T>G	(Likely) benign	1 lab	d13d6cbdb1
6:70980006 COL9A1 A>G	6	70980006	70980006	A	G	COL9A1	c.1197+11T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70980006A>G	(Likely) benign	1 lab	d1419176a6
19:11230801 LDLR G>A	19	11230801	11230801	G	A	LDLR	c.1879G>A	NM_000527.5	NP_000518.1:p.(Ala627Thr)	NC_000019.9:g.11230801G>A	(Likely) pathogenic	1 lab	d14458c781
1:66058466 LEPR C>T	1	66058466	66058466	C	T	LEPR	c.621C>T	NM_001003679.3	NP_001003679.1:p.(Asp207=)	NC_000001.10:g.66058466C>T	(Likely) benign	1 lab	d1448b340f
2:44073398 ABCG8 C>G	2	44073398	44073398	C	G	ABCG8	c.270C>G	NM_022437.3	NP_071882.1:p.(Asn90Lys)	NC_000002.11:g.44073398C>G	(Likely) benign	1 lab	d14888ffa0
2:44071760 ABCG8 C>T	2	44071760	44071760	C	T	ABCG8	c.165+13C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071760C>T	(Likely) benign	1 lab	d14961f6cc
15:34628570 SLC12A6 C>G	15	34628570	34628570	C	G	SLC12A6	c.244+41G>C	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34628570C>G	(Likely) benign	1 lab	d14b61815a
15:63340781 TPM1 G>A	15	63340781	63340781	G	A	TPM1	c.7G>A	NM_001365781.2	NP_001352710.1:p.(Gly3Arg)	NC_000015.9:g.63340781G>A	VUS	1 lab	d14eeb5c8c
2:26951204 KCNK3 G>A	2	26951204	26951204	G	A	KCNK3	c.953G>A	NM_002246.3	NP_002237.1:p.(Arg318His)	NC_000002.11:g.26951204G>A	VUS	1 lab	d15052621a
3:38616782 SCN5A G>A	3	38616782	38616782	G	A	SCN5A	c.3666+6C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38616782G>A	(Likely) benign	1 lab	d2545c1532
2:96940822 SNRNP200 G>A	2	96940822	96940822	G	A	SNRNP200	c.6339C>T	NM_014014.5	NP_054733.2:p.(Tyr2113=)	NC_000002.11:g.96940822G>A	(Likely) benign	1 lab	d15190d4c3
9:107589414 ABCA1 C>A	9	107589414	107589414	C	A	ABCA1	c.2152G>T	NM_005502.4	NP_005493.2:p.(Val718Leu)	NC_000009.11:g.107589414C>A	VUS	1 lab	d154e7ee0a
18:77488922 CTDP1 C>T	18	77488922	77488922	C	T	CTDP1	c.2433C>T	NM_004715.5	NP_004706.3:p.(Pro811=)	NC_000018.9:g.77488922C>T	(Likely) benign	1 lab	d158587834
7:107338479 SLC26A4 TC>T	7	107338479	107338480	TC	T	SLC26A4	c.1545-7del	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107338480del	(Likely) benign	1 lab	d1586a1e80
11:72005689 CLPB T>A	11	72005689	72005689	T	A	CLPB	c.1625A>T	NM_030813.6	NP_110440.1:p.(Glu542Val)	NC_000011.9:g.72005689T>A	(Likely) benign	1 lab	d158d6de59
12:2775961 CACNA1C G>A	12	2775961	2775961	G	A	CACNA1C	c.4623+13G>A	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2775961G>A	(Likely) benign	1 lab	d158e76fb2
X:2694861 MISSING C>Alt too long to show for this DUP	X	2694861	2815311	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2694862_2815311dup	(Likely) pathogenic	1 lab	d15c6fd9d4
16:920028 LMF1 G>C	16	920028	920028	G	C	LMF1	c.872C>G	NM_001352018.2	NP_001338947.1:p.(Thr291Arg)	NC_000016.9:g.920028G>C	VUS	1 lab	d1600b537f
10:112540782 RBM20 C>A	10	112540782	112540782	C	A	RBM20	c.415C>A	NM_001134363.3	NP_001127835.2:p.(His139Asn)	NC_000010.10:g.112540782C>A	VUS	1 lab	d161fd00bf
15:63336042 TPM1 G>A	15	63336042	63336042	G	A	TPM1	c.115-184G>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63336042G>A	(Likely) benign	1 lab	d1650eab19
12:48370936 COL2A1 A>C	12	48370936	48370936	A	C	COL2A1	c.3276T>G	NM_001844.5	NP_001835.3:p.(Gly1092=)	NC_000012.11:g.48370936A>C	(Likely) benign	1 lab	d16514f454
9:98270443 PTCH1 C>T	9	98270443	98270443	C	T	PTCH1	c.201G>A	NM_000264.5	NP_000255.2:p.(Lys67=)	NC_000009.11:g.98270443C>T	VUS	1 lab	d165a5e577
1:237774085 RYR2 A>G	1	237774085	237774085	A	G	RYR2	c.4707A>G	NM_001035.3	NP_001026.2:p.(Gly1569=)	NC_000001.10:g.237774085A>G	(Likely) benign	1 lab	d1667a08c7
12:988734 WNK1 C>T	12	988734	988734	C	T	WNK1	c.3613-1153C>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.988734C>T	(Likely) benign	1 lab	d16896cbd1
9:27203078 TEK G>A	9	27203078	27203078	G	A	TEK	c.2170G>A	NM_000459.5	NP_000450.3:p.(Ala724Thr)	NC_000009.11:g.27203078G>A	(Likely) benign	1 lab	d169a78f4e
16:29632015 MISSING T>Alt too long to show for this DUP	16	29632015	30177807	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29632016_30177807dup	(Likely) pathogenic	1 lab	d16a1f00b2
5:127871832 FBN2 A>G	5	127871832	127871832	A	G	FBN2	c.337+263T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127871832A>G	(Likely) benign	1 lab	d16beeec41
17:36499014 GPR179 T>C	17	36499014	36499014	T	C	GPR179	c.659A>G	NM_001004334.4	NP_001004334.3:p.(Tyr220Cys)	NC_000017.10:g.36499014T>C	(Likely) pathogenic	1 lab	d16ca87d8c
16:1412021 GNPTG G>A	16	1412021	1412021	G	A	GNPTG	c.318-18G>A	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1412021G>A	(Likely) benign	1 lab	d175914831
6:88315627 ORC3 Ref too long to show for this DEL>T	6	88315627	88318954	Ref too long to show for this DEL	T	ORC3	c.323-7_713+7del	NM_012381.4	NP_036513.2:p.?	NC_000006.11:g.88315628_88318954del	(Likely) pathogenic	1 lab	d1777a7d60
16:21946562 MISSING Ref too long to show for this DEL>C	16	21946562	22714497	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.21946566_22714497del	(Likely) pathogenic	1 lab	d17b55a700
15:56243792 NEDD4 TA>T	15	56243792	56243809	TA	T	NEDD4	c.120-6del	NM_006154.4	NP_006145.2:p.?	NC_000015.9:g.56243809del	(Likely) benign	1 lab	d17e0a8ffa
2:21230908 APOB T>C	2	21230908	21230908	T	C	APOB	c.8832A>G	NM_000384.3	NP_000375.3:p.(Ser2944=)	NC_000002.11:g.21230908T>C	(Likely) benign	1 lab	d17f57eaf3
X:9727458 GPR143 G>A	X	9727458	9727458	G	A	GPR143	c.369C>T	NM_000273.3	NP_000264.2:p.(Ile123=)	NC_000023.10:g.9727458G>A	(Likely) benign	1 lab	d1833b1b63
11:47361748 MYBPC3 GCACA>G	11	47361748	47361754	GCACA	G	MYBPC3	c.1928-411_1928-408del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361751_47361754del	(Likely) benign	1 lab	d185d89f8a
14:36986961 NKX2-1 C>T	14	36986961	36986961	C	T	NKX2-1	c.728G>A	NM_001079668.3	NP_001073136.1:p.(Arg243His)	NC_000014.8:g.36986961C>T	(Likely) pathogenic	1 lab	d187dcbe76
10:112572108 RBM20 C>T	10	112572108	112572108	C	T	RBM20	c.1953C>T	NM_001134363.3	NP_001127835.2:p.(Ser651=)	NC_000010.10:g.112572108C>T	(Likely) benign	1 lab	d1894e30e2
6:56468625 DST G>A	6	56468625	56468625	G	A	DST	c.10791+10C>T	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56468625G>A	(Likely) benign	1 lab	d189683b92
19:11222332 LDLR G>A	19	11222332	11222332	G	A	LDLR	c.1186+17G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222332G>A	(Likely) benign	1 lab	d18bb8bcbd
9:107583775 ABCA1 G>A	9	107583775	107583775	G	A	ABCA1	c.2841C>T	NM_005502.4	NP_005493.2:p.(Thr947=)	NC_000009.11:g.107583775G>A	(Likely) benign	1 lab	d18bd7bdb3
2:51122090 MISSING Ref too long to show for this DEL>T	2	51122090	51446873	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.51122091_51446873del	(Likely) pathogenic	1 lab	d1909133a2
10:85970790 CDHR1 T>C	10	85970790	85970790	T	C	CDHR1	c.1354T>C	NM_033100.4	NP_149091.1:p.(Phe452Leu)	NC_000010.10:g.85970790T>C	VUS	1 lab	d191abad7c
2:219647053 CYP27A1 G>A	2	219647053	219647053	G	A	CYP27A1	c.148G>A	NM_000784.4	NP_000775.1:p.(Val50Ile)	NC_000002.11:g.219647053G>A	VUS	1 lab	d1928af4ad
16:15841606 MYH11 G>C	16	15841606	15841606	G	C	MYH11	c.2251-19C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15841606G>C	(Likely) benign	1 lab	d1997a6208
4:100530139 MTTP A>G	4	100530139	100530139	A	G	MTTP	c.1769+5A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530139A>G	(Likely) benign	1 lab	d19adec73c
14:64497950 SYNE2 T>C	14	64497950	64497950	T	C	SYNE2	c.7096T>C	NM_182914.3	NP_878918.2:p.(Ser2366Pro)	NC_000014.8:g.64497950T>C	(Likely) benign	1 lab	d19b013528
7:154681216 DPP6 G>A	7	154681216	154681216	G	A	DPP6	c.2427G>A	NM_130797.4	NP_570629.2:p.(Arg809=)	NC_000007.13:g.154681216G>A	(Likely) benign	1 lab	d19fc64d98
21:47551997 COL6A2 C>A	21	47551997	47551997	C	A	COL6A2	c.2591C>A	NM_001849.4	NP_001840.3:p.(Thr864Lys)	NC_000021.8:g.47551997C>A	VUS	1 lab	d1a1117952
7:141450185 SSBP1 G>A	7	141450185	141450185	G	A	SSBP1	c.*31G>A	NM_003143.3	NP_003134.1:p.?	NC_000007.13:g.141450185G>A	(Likely) benign	1 lab	d1a2e136a7
17:45234331 CDC27 T>G	17	45234331	45234331	T	G	CDC27	c.790A>C	NM_001114091.4	NP_001107563.1:p.(Thr264Pro)	NC_000017.10:g.45234331T>G	(Likely) benign	1 lab	d1a4a5902b
18:29121251 DSG2 A>G	18	29121251	29121251	A	G	DSG2	c.1975A>G	NM_001943.5	NP_001934.2:p.(Asn659Asp)	NC_000018.9:g.29121251A>G	VUS	1 lab	d1a7298848
7:138601732 KIAA1549 G>A	7	138601732	138601732	G	A	KIAA1549	c.2640C>T	NM_001164665.2	NP_001158137.1:p.(Ser880=)	NC_000007.13:g.138601732G>A	(Likely) benign	1 lab	d1a789457a
16:14029123 ERCC4 A>C	16	14029123	14029123	A	C	ERCC4	c.1334A>C	NM_005236.3	NP_005227.1:p.(Lys445Thr)	NC_000016.9:g.14029123A>C	(Likely) benign	1 lab	d1a82b9267
4:114275942 ANK2 C>G	4	114275942	114275942	C	G	ANK2	c.6168C>G	NM_001148.6	NP_001139.3:p.(Leu2056=)	NC_000004.11:g.114275942C>G	(Likely) benign	1 lab	d1a8a65bf6
14:81554306 TSHR G>A	14	81554306	81554306	G	A	TSHR	c.326G>A	NM_000369.4	NP_000360.2:p.(Arg109Gln)	NC_000014.8:g.81554306G>A	(Likely) pathogenic	1 lab	d1ae156f4a
1:6530965 PLEKHG5 C>CG	1	6530965	6530968	C	CG	PLEKHG5	c.1393-22dup	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530968dup	(Likely) benign	1 lab	d2565871bd
1:235922521 LYST G>C	1	235922521	235922521	G	C	LYST	c.6632C>G	NM_001301365.1	NP_001288294.1:p.(Pro2211Arg)	NC_000001.10:g.235922521G>C	(Likely) benign	1 lab	d1b1956106
10:73466774 CDH23 G>A	10	73466774	73466774	G	A	CDH23	c.3074G>A	NM_022124.6	NP_071407.4:p.(Gly1025Asp)	NC_000010.10:g.73466774G>A	(Likely) benign	1 lab	d1b3108c14
16:942998 LMF1 C>A	16	942998	942998	C	A	LMF1	c.330+9G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942998C>A	(Likely) benign	1 lab	d1b381ad10
6:56819347 DST G>A	6	56819347	56819347	G	A	DST	c.39C>T	NM_001144769.5	NP_001138241.1:p.(Tyr13=)	NC_000006.11:g.56819347G>A	(Likely) benign	1 lab	d1b6f3ea69
15:58724322 LIPC A>G	15	58724322	58724322	A	G	LIPC	c.88+3A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724322A>G	VUS	1 lab	d1b74589d6
8:59404991 CYP7A1 T>C	8	59404991	59404991	T	C	CYP7A1	c.1136A>G	NM_000780.4	NP_000771.2:p.(Tyr379Cys)	NC_000008.10:g.59404991T>C	VUS	1 lab	d1b8e35075
5:7757705 ADCY2 T>TGGCCGTGTTCAACATGGTAAGC	5	7757705	7757706	T	TGGCCGTGTTCAACATGGTAAGC	ADCY2	c.2094+6_2094+7insGGCCGTGTTCAACATGGTAAGC	NM_020546.3	NP_065433.2:p.?	NC_000005.9:g.7757705_7757706insGGCCGTGTTCAACATGGTAAGC	(Likely) benign	1 lab	d1b9eb2669
17:57654655 DHX40 A>G	17	57654655	57654655	A	G	DHX40	c.1002A>G	NM_024612.5	NP_078888.4:p.(Pro334=)	NC_000017.10:g.57654655A>G	(Likely) benign	1 lab	d1bad9ffb0
3:132394174 UBA5 C>T	3	132394174	132394174	C	T	UBA5	c.895C>T	NM_024818.6	NP_079094.1:p.(Pro299Ser)	NC_000003.11:g.132394174C>T	(Likely) pathogenic	1 lab	d1bbe91f83
11:75480097 DGAT2 G>A	11	75480097	75480097	G	A	DGAT2	c.61G>A	NM_032564.5	NP_115953.2:p.(Asp21Asn)	NC_000011.9:g.75480097G>A	(Likely) benign	1 lab	d1c13f85c1
15:49105955 MISSING Ref too long to show for this DEL>C	15	49105955	49430458	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.49105956_49430458del	VUS	1 lab	d1c43956f9
11:68696733 IGHMBP2 C>T	11	68696733	68696733	C	T	IGHMBP2	c.1143C>T	NM_002180.3	NP_002171.2:p.(Leu381=)	NC_000011.9:g.68696733C>T	(Likely) benign	1 lab	d1c4ca0a3c
10:61941147 ANK3 A>G	10	61941147	61941147	A	G	ANK3	c.2124T>C	NM_020987.5	NP_066267.2:p.(Asp708=)	NC_000010.10:g.61941147A>G	(Likely) benign	1 lab	d1c6360887
5:140062751 HARS1 G>A	5	140062751	140062751	G	A	HARS1	c.234C>T	NM_002109.6	NP_002100.2:p.(Asp78=)	NC_000005.9:g.140062751G>A	(Likely) benign	1 lab	d1c7adbaf5
1:55509117 PCSK9 C>T	1	55509117	55509117	C	T	PCSK9	c.208-399C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509117C>T	(Likely) benign	1 lab	d1c87d0074
16:1003977 LMF1 C>T	16	1003977	1003977	C	T	LMF1	c.-52+380G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003977C>T	(Likely) benign	1 lab	d1cb993423
2:68679744 MISSING A>Alt too long to show for this DUP	2	68679744	68839306	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.68679745_68839306dup	VUS	1 lab	d1ce5bef4a
11:47359907 MYBPC3 TCC>T	11	47359907	47359912	TCC	T	MYBPC3	c.2308+162_2308+163del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359911_47359912del	(Likely) benign	1 lab	d1cf13515c
15:45412435 DUOXA1 G>A	15	45412435	45412435	G	A	DUOXA1	c.638C>T	NM_001276266.2	NP_001263195.1:p.(Thr213Met)	NC_000015.9:g.45412435G>A	(Likely) benign	1 lab	d1d5131d43
1:197313422 CRB1 G>A	1	197313422	197313422	G	A	CRB1	c.457G>A	NM_001257965.2	NP_001244894.1:p.(Glu153Lys)	NC_000001.10:g.197313422G>A	(Likely) benign	1 lab	d1d7129b7e
2:179615995 TTN G>A	2	179615995	179615995	G	A	TTN	c.11132C>T	NM_133379.5	NP_596870.2:p.(Thr3711Ile)	NC_000002.11:g.179615995G>A	VUS	1 lab	d1d8398983
1:94495970 ABCA4 G>A	1	94495970	94495970	G	A	ABCA4	c.4352+14C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94495970G>A	(Likely) benign	1 lab	d1d932a2ff
18:10672782 PIEZO2 T>A	18	10672782	10672782	T	A	PIEZO2	c.7911A>T	NM_022068.4	NP_071351.2:p.(Gly2637=)	NC_000018.9:g.10672782T>A	(Likely) benign	1 lab	d1d9b9c9f1
2:179300979 PRKRA A>T	2	179300979	179300979	A	T	PRKRA	c.644T>A	NM_001139517.1	NP_001132989.1:p.(Ile215Asn)	NC_000002.11:g.179300979A>T	(Likely) benign	1 lab	d1db012a30
2:96944065 SNRNP200 G>C	2	96944065	96944065	G	C	SNRNP200	c.5520C>G	NM_014014.5	NP_054733.2:p.(Thr1840=)	NC_000002.11:g.96944065G>C	(Likely) benign	1 lab	d1dbe65d9c
16:89828421 FANCA G>C	16	89828421	89828421	G	C	FANCA	c.2788C>G	NM_000135.4	NP_000126.2:p.(Gln930Glu)	NC_000016.9:g.89828421G>C	(Likely) benign	1 lab	d1de827846
15:73660028 HCN4 G>A	15	73660028	73660028	G	A	HCN4	c.584C>T	NM_005477.3	NP_005468.1:p.(Ala195Val)	NC_000015.9:g.73660028G>A	(Likely) benign	1 lab	d1def46f78
15:48760750 FBN1 T>C	15	48760750	48760750	T	C	FBN1	c.4460-19A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760750T>C	(Likely) benign	1 lab	d1e0fced7b
1:236906118 ACTN2 TAGA>T	1	236906118	236906126	TAGA	T	ACTN2	c.1108-72_1108-70del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236906124_236906126del	(Likely) benign	1 lab	d1e2fc4126
16:67662284 CTCF G>GA	16	67662284	67662285	G	GA	CTCF	c.1531dup	NM_006565.4	NP_006556.1:p.(Ile511AsnfsTer20)	NC_000016.9:g.67662285dup	(Likely) pathogenic	1 lab	d1e3f0652d
2:44055172 ABCG5 G>C	2	44055172	44055172	G	C	ABCG5	c.584C>G	NM_022436.3	NP_071881.1:p.(Thr195Arg)	NC_000002.11:g.44055172G>C	(Likely) benign	1 lab	d1e8a12c5e
10:103035612 MISSING C>Alt too long to show for this DUP	10	103035612	103124457	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.103035613_103124457dup	VUS	1 lab	d1e9142945
1:979306 AGRN C>T	1	979306	979306	C	T	AGRN	c.1902C>T	NM_001305275.2	NP_001292204.1:p.(Ser634=)	NC_000001.10:g.979306C>T	(Likely) benign	1 lab	d1e91b7fa6
8:97157307 GDF6 G>C	8	97157307	97157307	G	C	GDF6	c.852C>G	NM_001001557.4	NP_001001557.1:p.(Ser284=)	NC_000008.10:g.97157307G>C	(Likely) benign	1 lab	d1ea818ff0
9:123795494 C5 Ref too long to show for this DEL>T	9	123795494	123810340	Ref too long to show for this DEL	T	C5	c.66-1679_585-1022del	NM_001735.3	NP_001726.2:p.?	NC_000009.11:g.123795495_123810340del	VUS	1 lab	d1eb68f9e9
1:74818936 TNNI3K G>T	1	74818936	74818936	G	T	TNNI3K	c.933-14G>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74818936G>T	(Likely) benign	1 lab	d1eb6dd9fe
2:179583125 TTN C>T	2	179583125	179583125	C	T	TTN	c.24708G>A	NM_001267550.2	NP_001254479.2:p.(Glu8236=)	NC_000002.11:g.179583125C>T	(Likely) benign	1 lab	d1ee5b2496
X:32382724 DMD G>A	X	32382724	32382724	G	A	DMD	c.4760C>T	NM_004010.3	NP_004001.1:p.(Pro1587Leu)	NC_000023.10:g.32382724G>A	VUS	1 lab	d1eee849b5
4:88928968 PKD2 G>C	4	88928968	88928968	G	C	PKD2	c.83G>C	NM_000297.4	NP_000288.1:p.(Arg28Pro)	NC_000004.11:g.88928968G>C	(Likely) benign	1 lab	d1efc6a4bc
15:48734045 FBN1 T>C	15	48734045	48734045	T	C	FBN1	c.6038-2A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48734045T>C	(Likely) pathogenic	1 lab	d1f03058b6
1:11140610 EXOSC10 GAA>G	1	11140610	11140621	GAA	G	EXOSC10	c.1587-6_1587-5del	NM_001001998.3	NP_001001998.1:p.?	NC_000001.10:g.11140620_11140621del	(Likely) benign	1 lab	d1f093c16d
12:21997779 ABCC9 GTGA>G	12	21997779	21997782	GTGA	G	ABCC9	c.3164_3166del	NM_020297.4	NP_064693.2:p.(Leu1055_Thr1056delinsPro)	NC_000012.11:g.21997780_21997782del	VUS	1 lab	d1f2eeb648
16:88501813 ZNF469 G>A	16	88501813	88501813	G	A	ZNF469	c.7935G>A	NM_001367624.2	NP_001354553.1:p.(Glu2645=)	NC_000016.9:g.88501813G>A	(Likely) benign	1 lab	d1f5f44037
19:11231086 LDLR CTGCCAGTATCTG>C	19	11231086	11231102	CTGCCAGTATCTG	C	LDLR	c.2033_2044del	NM_000527.5	NP_000518.1:p.(Gln678_Cys681del)	NC_000019.9:g.11231091_11231102del	(Likely) pathogenic	1 lab	d1fb7ff7ba
20:62630427 PRPF6 C>T	20	62630427	62630427	C	T	PRPF6	c.801C>T	NM_012469.4	NP_036601.2:p.(Val267=)	NC_000020.10:g.62630427C>T	(Likely) benign	1 lab	d1ff5629da
9:107603206 ABCA1 TAA>T	9	107603206	107603210	TAA	T	ABCA1	c.814-408_814-407del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107603209_107603210del	(Likely) benign	1 lab	d20151ce1a
1:55525145 PCSK9 T>C	1	55525145	55525145	T	C	PCSK9	c.1504-14T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525145T>C	(Likely) benign	1 lab	d201c809da
17:59878665 BRIP1 G>A	17	59878665	59878665	G	A	BRIP1	c.1089C>T	NM_032043.3	NP_114432.2:p.(Asp363=)	NC_000017.10:g.59878665G>A	(Likely) benign	1 lab	d205fa72d6
12:57892011 MARS1 T>G	12	57892011	57892011	T	G	MARS1	c.842T>G	NM_004990.4	NP_004981.2:p.(Leu281Arg)	NC_000012.11:g.57892011T>G	VUS	1 lab	d2075b66e5
16:1005548 LMF1 ACG>A	16	1005548	1005551	ACG	A	LMF1	c.-361-884_-361-883del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005550_1005551del	(Likely) benign	1 lab	d20cb4f188
8:133978796 TG C>A	8	133978796	133978796	C	A	TG	c.5549-9C>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133978796C>A	(Likely) benign	1 lab	d20eedd5f5
22:29735711 MISSING G>Alt too long to show for this DUP	22	29735711	30061015	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.29735712_30061015dup	(Likely) pathogenic	1 lab	d2118223e8
20:10632162 JAG1 C>T	20	10632162	10632162	C	T	JAG1	c.1120+67G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10632162C>T	(Likely) benign	1 lab	d2126261a3
16:960725 LMF1 G>A	16	960725	960725	G	A	LMF1	c.264+206C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960725G>A	(Likely) benign	1 lab	d212a5a19b
X:47041012 RBM10 G>A	X	47041012	47041012	G	A	RBM10	c.1737G>A	NM_001204468.2	NP_001191397.1:p.(Ala579=)	NC_000023.10:g.47041012G>A	(Likely) benign	1 lab	d214c264c2
6:72780444 RIMS1 Ref too long to show for this DEL>T	6	72780444	72817666	Ref too long to show for this DEL	T	RIMS1	c.246-26205_471+7977del	NM_014989.7	NP_055804.2:p.?	NC_000006.11:g.72780447_72817666del	VUS	1 lab	d219f4aaf5
19:50735197 MYH14 C>T	19	50735197	50735197	C	T	MYH14	c.984C>T	NM_001145809.2	NP_001139281.1:p.(Leu328=)	NC_000019.9:g.50735197C>T	(Likely) benign	1 lab	d21cfc4505
9:130243453 LRSAM1 T>C	9	130243453	130243453	T	C	LRSAM1	c.1044-9T>C	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130243453T>C	(Likely) benign	1 lab	d21ffce075
11:10051295 SBF2 C>G	11	10051295	10051295	C	G	SBF2	c.513+17G>C	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.10051295C>G	(Likely) benign	1 lab	d225962420
10:67829077 CTNNA3 T>C	10	67829077	67829077	T	C	CTNNA3	c.2148A>G	NM_013266.4	NP_037398.2:p.(Thr716=)	NC_000010.10:g.67829077T>C	(Likely) benign	1 lab	d226aa9544
15:55520891 RAB27A C>T	15	55520891	55520891	C	T	RAB27A	c.259G>A	NM_004580.5	NP_004571.2:p.(Ala87Thr)	NC_000015.9:g.55520891C>T	(Likely) pathogenic	1 lab	d227263f70
16:57003323 CETP G>T	16	57003323	57003323	G	T	CETP	c.259G>T	NM_000078.3	NP_000069.2:p.(Ala87Ser)	NC_000016.9:g.57003323G>T	VUS	1 lab	d227e2cc0a
11:47354174 MYBPC3 GCGGT>G	11	47354174	47354178	GCGGT	G	MYBPC3	c.3566_3569del	NM_000256.3	NP_000247.2:p.(Asn1189ThrfsTer47)	NC_000011.9:g.47354175_47354178del	(Likely) benign	1 lab	d22e6e72b8
16:1003947 LMF1 ACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC>A	16	1003947	1004028	ACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACC	A	LMF1	c.-52+334_-52+409del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003953_1004028del	(Likely) benign	1 lab	d22f683128
16:15835853 MYH11 C>T	16	15835853	15835853	C	T	MYH11	c.2542-105G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15835853C>T	(Likely) benign	1 lab	d22fc32d5e
9:312114 DOCK8 G>A	9	312114	312114	G	A	DOCK8	c.689G>A	NM_203447.4	NP_982272.2:p.(Arg230Gln)	NC_000009.11:g.312114G>A	VUS	1 lab	d2300f4810
1:11907602 NPPA C>T	1	11907602	11907602	C	T	NPPA	c.123+17G>A	NM_006172.4	NP_006163.1:p.?	NC_000001.10:g.11907602C>T	(Likely) benign	1 lab	d23122741b
15:93543758 CHD2 G>A	15	93543758	93543758	G	A	CHD2	c.4025G>A	NM_001271.4	NP_001262.3:p.(Arg1342Gln)	NC_000015.9:g.93543758G>A	VUS	1 lab	d234699996
11:47359010 MYBPC3 C>T	11	47359010	47359010	C	T	MYBPC3	c.2534G>A	NM_000256.3	NP_000247.2:p.(Arg845His)	NC_000011.9:g.47359010C>T	VUS	1 lab	d2348a0078
1:240177190 MISSING Ref too long to show for this DEL>A	1	240177190	240964805	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.240177192_240964805del	(Likely) pathogenic	1 lab	d236de6bb1
8:144297313 GPIHBP1 GGCA>G	8	144297313	144297318	GGCA	G	GPIHBP1	c.478_480del	NM_178172.6	NP_835466.2:p.(Ser161del)	NC_000008.10:g.144297316_144297318del	VUS	1 lab	d238921119
9:107547872 ABCA1 C>T	9	107547872	107547872	C	T	ABCA1	c.6450G>A	NM_005502.4	NP_005493.2:p.(Pro2150=)	NC_000009.11:g.107547872C>T	(Likely) benign	1 lab	d23b53d3e5
2:189867733 COL3A1 A>G	2	189867733	189867733	A	G	COL3A1	c.2498A>G	NM_000090.4	NP_000081.2:p.(Lys833Arg)	NC_000002.11:g.189867733A>G	VUS	1 lab	d23c696b51
2:179604597 TTN C>G	2	179604597	179604597	C	G	TTN	c.12412G>C	NM_001256850.1	NP_001243779.1:p.(Val4138Leu)	NC_000002.11:g.179604597C>G	VUS	1 lab	d23d68aa99
22:36613518 MISSING G>Alt too long to show for this DUP	22	36613518	36710631	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.36613519_36710631dup	VUS	1 lab	d23f37ccaf
1:55521662 PCSK9 C>T	1	55521662	55521662	C	T	PCSK9	c.800-4C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521662C>T	(Likely) benign	1 lab	d23f7f7c74
1:92195394 TGFBR3 G>A	1	92195394	92195394	G	A	TGFBR3	c.705C>T	NM_003243.5	NP_003234.2:p.(Ile235=)	NC_000001.10:g.92195394G>A	(Likely) benign	1 lab	d240369066
16:16278789 ABCC6 CTGGTTACTACGGGTGTCGTTCTGTACCTGTGGAGGCAGGGAGGGCTTTCCTGGGACCAGGCGAAGGTGGCACTGTGTA>C	16	16278789	16278871	CTGGTTACTACGGGTGTCGTTCTGTACCTGTGGAGGCAGGGAGGGCTTTCCTGGGACCAGGCGAAGGTGGCACTGTGTA	C	ABCC6	c.1550_1601+26del	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16278794_16278871del	(Likely) pathogenic	1 lab	d246242a10
6:169972639 WDR27 CAAAAAA>C	6	169972639	169972665	CAAAAAA	C	WDR27	c.2524-9_2524-4del	NM_182552.5	NP_872358.4:p.?	NC_000006.11:g.169972660_169972665del	(Likely) benign	1 lab	d2474d86d9
4:147247099 SLC10A7 A>G	4	147247099	147247099	A	G	SLC10A7	c.471+14T>C	NM_001029998.6	NP_001025169.1:p.?	NC_000004.11:g.147247099A>G	(Likely) benign	1 lab	d2476b2a91
16:15818835 MYH11 G>A	16	15818835	15818835	G	A	MYH11	c.3894C>T	NM_001040113.2	NP_001035202.1:p.(Ser1298=)	NC_000016.9:g.15818835G>A	(Likely) benign	1 lab	d24956c8cb
4:100510903 MTTP A>G	4	100510903	100510903	A	G	MTTP	c.497A>G	NM_000253.4	NP_000244.2:p.(Asn166Ser)	NC_000004.11:g.100510903A>G	(Likely) benign	1 lab	d2496b68a6
20:49509761 ADNP T>C	20	49509761	49509761	T	C	ADNP	c.1490A>G	NM_001282531.3	NP_001269460.1:p.(Tyr497Cys)	NC_000020.10:g.49509761T>C	VUS	1 lab	d249c9aab9
2:179688570 MISSING Ref too long to show for this DEL>T	2	179688570	179707517	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.179688571_179707517del	VUS	1 lab	d249da4d61
12:21358978 SLCO1B1 G>A	12	21358978	21358978	G	A	SLCO1B1	c.1497+11G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358978G>A	(Likely) benign	1 lab	d24bc665f9
6:32552137 HLA-DRB1 G>C	6	32552137	32552137	G	C	HLA-DRB1	c.119C>G	NM_002124.4	NP_002115.2:p.(Pro40Arg)	NC_000006.11:g.32552137G>C	(Likely) benign	1 lab	d24dc0b28c
20:21213361 KIZ G>A	20	21213361	21213361	G	A	KIZ	c.1784-11G>A	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21213361G>A	(Likely) benign	1 lab	d24df3a365
16:929667 LMF1 G>A	16	929667	929667	G	A	LMF1	c.401C>T	NM_001352018.2	NP_001338947.1:p.(Thr134Met)	NC_000016.9:g.929667G>A	VUS	1 lab	d24f705fd1
16:57005989 CETP T>C	16	57005989	57005989	T	C	CETP	c.744T>C	NM_000078.3	NP_000069.2:p.(His248=)	NC_000016.9:g.57005989T>C	(Likely) benign	1 lab	d250c1b8c6
5:121490915 MISSING Ref too long to show for this DEL>G	5	121490915	124210119	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.121490918_124210119del	VUS	1 lab	d25133f4f1
12:46245567 ARID2 C>CG	12	46245567	46245568	C	CG	ARID2	c.3661_3662insG	NM_152641.4	NP_689854.2:p.(Gln1221ArgfsTer20)	NC_000012.11:g.46245567_46245568insG	(Likely) pathogenic	1 lab	d2531fe543
6:7571818 DSP G>T	6	7571818	7571818	G	T	DSP	c.1903+1G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571818G>T	(Likely) pathogenic	1 lab	d25d71979c
3:75787317 ZNF717 T>A	3	75787317	75787317	T	A	ZNF717	c.1457A>T	NM_001128223.3	NP_001121695.1:p.(Lys486Ile)	NC_000003.11:g.75787317T>A	(Likely) benign	1 lab	d25dfa011f
14:45644402 FANCM G>A	14	45644402	45644402	G	A	FANCM	c.2445G>A	NM_020937.4	NP_065988.1:p.(Ser815=)	NC_000014.8:g.45644402G>A	(Likely) benign	1 lab	d264da4021
6:32487158 HLA-DRB5 G>GCA	6	32487158	32487159	G	GCA	HLA-DRB5	c.640_641insTG	NM_002125.4	NP_002116.2:p.(Thr214MetfsTer17)	NC_000006.11:g.32487158_32487159insCA	(Likely) benign	1 lab	d26a812b4f
11:47772796 FNBP4 C>A	11	47772796	47772796	C	A	FNBP4	c.684G>T	NM_015308.5	NP_056123.2:p.(Thr228=)	NC_000011.9:g.47772796C>A	(Likely) benign	1 lab	d26d38152c
17:64241293 MISSING Ref too long to show for this DEL>C	17	64241293	65996608	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.64241295_65996608del	(Likely) pathogenic	1 lab	d26d9201dc
19:45412025 APOE CA>C	19	45412025	45412026	CA	C	APOE	c.473del	NM_000041.4	NP_000032.1:p.(His158ProfsTer93)	NC_000019.9:g.45412026del	(Likely) pathogenic	1 lab	d26e8e7f3e
2:21228376 APOB C>T	2	21228376	21228376	C	T	APOB	c.11364G>A	NM_000384.3	NP_000375.3:p.(Glu3788=)	NC_000002.11:g.21228376C>T	(Likely) benign	1 lab	d272a81ec2
14:90870761 CALM1 C>T	14	90870761	90870761	C	T	CALM1	c.324C>T	NM_006888.6	NP_008819.1:p.(His108=)	NC_000014.8:g.90870761C>T	(Likely) benign	1 lab	d27347f7c4
16:1004500 LMF1 T>C	16	1004500	1004500	T	C	LMF1	c.33A>G	NM_001352019.2	NP_001338948.1:p.(Ser11=)	NC_000016.9:g.1004500T>C	(Likely) benign	1 lab	d2761d1b74
17:41203156 BRCA1 G>A	17	41203156	41203156	G	A	BRCA1	c.5278-22C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41203156G>A	(Likely) benign	1 lab	d277d0a723
4:178361555 AGA G>A	4	178361555	178361555	G	A	AGA	c.153C>T	NM_000027.4	NP_000018.2:p.(Gly51=)	NC_000004.11:g.178361555G>A	(Likely) benign	1 lab	d2780aa0e2
20:25275638 ABHD12 C>G	20	25275638	25275638	C	G	ABHD12	c.1186G>C	NM_015600.5	NP_056415.1:p.(Asp396His)	NC_000020.10:g.25275638C>G	VUS	1 lab	d27a961c81
9:107624095 ABCA1 G>A	9	107624095	107624095	G	A	ABCA1	c.422-14C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624095G>A	(Likely) benign	1 lab	d27b292b86
1:216373471 USH2A G>GA	1	216373471	216373475	G	GA	USH2A	c.3317-9dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216373475dup	(Likely) benign	1 lab	d27e3be43c
11:68678935 IGHMBP2 T>C	11	68678935	68678935	T	C	IGHMBP2	c.575T>C	NM_002180.3	NP_002171.2:p.(Leu192Pro)	NC_000011.9:g.68678935T>C	(Likely) pathogenic	1 lab	d2880e344d
20:271225 C20orf96 T>TTTTTA	20	271225	271226	T	TTTTTA	C20orf96	c.17+2_17+3insTAAAA	NM_080571.2	NP_542138.1:p.?	NC_000020.10:g.271225_271226insTTTTA	(Likely) benign	1 lab	d2894fbf4c
13:32911309 BRCA2 C>G	13	32911309	32911309	C	G	BRCA2	c.2817C>G	NM_000059.4	NP_000050.3:p.(Thr939=)	NC_000013.10:g.32911309C>G	(Likely) benign	1 lab	d28aee54a8
20:22562674 FOXA2 T>C	20	22562674	22562674	T	C	FOXA2	c.1188A>G	NM_153675.3	NP_710141.1:p.(Gln396=)	NC_000020.10:g.22562674T>C	(Likely) benign	1 lab	d28da878fd
6:32017163 TNXB C>A	6	32017163	32017163	C	A	TNXB	c.9635G>T	NM_019105.8	NP_061978.6:p.(Gly3212Val)	NC_000006.11:g.32017163C>A	(Likely) benign	1 lab	d290db5931
15:102085529 MISSING Ref too long to show for this DEL>A	15	102085529	102429112	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.102085531_102429112del	VUS	1 lab	d2910e4d7d
2:44053565 ABCG5 T>A	2	44053565	44053565	T	A	ABCG5	c.730A>T	NM_022436.3	NP_071881.1:p.(Ile244Phe)	NC_000002.11:g.44053565T>A	VUS	1 lab	d291662da5
1:184041946 TSEN15 CT>C	1	184041946	184041956	CT	C	TSEN15	c.496-5del	NM_052965.4	NP_443197.1:p.?	NC_000001.10:g.184041956del	(Likely) benign	1 lab	d291f20f5c
2:44055245 ABCG5 C>T	2	44055245	44055245	C	T	ABCG5	c.511G>A	NM_022436.3	NP_071881.1:p.(Val171Ile)	NC_000002.11:g.44055245C>T	VUS	1 lab	d298611524
11:118376217 KMT2A TCCAG>T	11	118376217	118376225	TCCAG	T	KMT2A	c.9615_9618del	NM_001197104.2	NP_001184033.1:p.(Ser3205ArgfsTer9)	NC_000011.9:g.118376222_118376225del	(Likely) pathogenic	1 lab	d2988e528f
2:96962256 SNRNP200 A>G	2	96962256	96962256	A	G	SNRNP200	c.1671+18T>C	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96962256A>G	(Likely) benign	1 lab	d29a377aae
11:65315233 LTBP3 C>T	11	65315233	65315233	C	T	LTBP3	c.1906G>A	NM_001130144.3	NP_001123616.1:p.(Gly636Ser)	NC_000011.9:g.65315233C>T	VUS	1 lab	d29c0c53e1
10:69961685 MYPN T>C	10	69961685	69961685	T	C	MYPN	c.3593T>C	NM_032578.4	NP_115967.2:p.(Met1198Thr)	NC_000010.10:g.69961685T>C	VUS	1 lab	d29c9e6de7
1:39909121 MACF1 C>T	1	39909121	39909121	C	T	MACF1	c.13129C>T	NM_012090.5	NP_036222.3:p.(Gln4377Ter)	NC_000001.10:g.39909121C>T	VUS	1 lab	d29f6c88f6
7:128480737 FLNC C>T	7	128480737	128480737	C	T	FLNC	c.1676+9C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480737C>T	(Likely) benign	1 lab	d29fc37f6a
11:47462728 RAPSN G>A	11	47462728	47462728	G	A	RAPSN	c.948C>T	NM_005055.5	NP_005046.2:p.(Ala316=)	NC_000011.9:g.47462728G>A	(Likely) benign	1 lab	d2abcbe4bb
3:123376037 MYLK G>A	3	123376037	123376037	G	A	MYLK	c.4224C>T	NM_053025.4	NP_444253.3:p.(Asn1408=)	NC_000003.11:g.123376037G>A	(Likely) benign	1 lab	d2acf62cf7
6:7565369 DSP G>A	6	7565369	7565369	G	A	DSP	c.778-223G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565369G>A	(Likely) benign	1 lab	d2ae46fc64
15:58860952 LIPC C>T	15	58860952	58860952	C	T	LIPC	c.1426C>T	NM_000236.3	NP_000227.2:p.(Leu476Phe)	NC_000015.9:g.58860952C>T	VUS	1 lab	d2ae7fa0a2
9:137654670 COL5A1 A>T	9	137654670	137654670	A	T	COL5A1	c.1989+846A>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137654670A>T	VUS	1 lab	d2af9ffaaa
22:51160437 SHANK3 CACTG>C	22	51160437	51160443	CACTG	C	SHANK3	c.4404_4407del	NM_001372044.2	NP_001358973.1:p.(Asp1469ProfsTer33)	NC_000022.10:g.51160440_51160443del	(Likely) pathogenic	1 lab	d2b488b437
1:7999971 TNFRSF9 A>G	1	7999971	7999971	A	G	TNFRSF9	c.84T>C	NM_001561.6	NP_001552.2:p.(Cys28=)	NC_000001.10:g.7999971A>G	(Likely) benign	1 lab	d2b5b5cf1e
18:34174730 FHOD3 G>A	18	34174730	34174730	G	A	FHOD3	c.607-20G>A	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34174730G>A	(Likely) benign	1 lab	d2b6a181ea
8:10480198 RP1L1 G>C	8	10480198	10480198	G	C	RP1L1	c.514C>G	NM_178857.6	NP_849188.4:p.(His172Asp)	NC_000008.10:g.10480198G>C	(Likely) benign	1 lab	d2b7aa0c4e
12:125284751 SCARB1 G>A	12	125284751	125284751	G	A	SCARB1	c.1047C>T	NM_005505.5	NP_005496.4:p.(Asn349=)	NC_000012.11:g.125284751G>A	(Likely) benign	1 lab	d2b7d19314
14:37777449 MIPOL1 Ref too long to show for this DEL>T	14	37777449	37984448	Ref too long to show for this DEL	T	MIPOL1	c.658-104_1262+15105del	NM_001388067.1	NP_001374996.1:p.?	NC_000014.8:g.37777450_37984448del	VUS	1 lab	d2b82764eb
2:148672776 ACVR2A C>T	2	148672776	148672776	C	T	ACVR2A	c.545C>T	NM_001278579.2	NP_001265508.1:p.(Pro182Leu)	NC_000002.11:g.148672776C>T	VUS	1 lab	d2bb518282
16:81399084 GAN G>T	16	81399084	81399084	G	T	GAN	c.1502+1G>T	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81399084G>T	(Likely) pathogenic	1 lab	d2bc95c4cb
2:179403750 TTN-AS1 C>T	2	179403750	179403750	C	T	TTN-AS1	n.973C>T	NR_038272.1		NC_000002.11:g.179403750C>T	(Likely) benign	1 lab	d2c74f50f5
18:8784271 MTCL1 C>T	18	8784271	8784271	C	T	MTCL1	c.1161C>T	NM_015210.4	NP_056025.2:p.(Ala387=)	NC_000018.9:g.8784271C>T	(Likely) benign	1 lab	d2d1208b5e
19:367050 MISSING Ref too long to show for this DEL>G	19	367050	389434	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.367051_389434del	VUS	1 lab	d2d13b397e
1:25889630 LDLRAP1 C>G	1	25889630	25889630	C	G	LDLRAP1	c.602C>G	NM_015627.3	NP_056442.2:p.(Pro201Arg)	NC_000001.10:g.25889630C>G	VUS	1 lab	d2d174af89
10:121431761 BAG3 T>TG	10	121431761	121431762	T	TG	BAG3	c.508-6_508-5insG	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121431761_121431762insG	(Likely) benign	1 lab	d2d91a62d0
2:179430596 TTN A>G	2	179430596	179430596	A	G	TTN	c.80263T>C	NM_001267550.2	NP_001254479.2:p.(Phe26755Leu)	NC_000002.11:g.179430596A>G	VUS	1 lab	d2d9a5a135
19:621090 POLRMT C>T	19	621090	621090	C	T	POLRMT	c.2608G>A	NM_005035.4	NP_005026.3:p.(Asp870Asn)	NC_000019.9:g.621090C>T	(Likely) benign	1 lab	d2dbb6ba74
X:99984674 MISSING G>Alt too long to show for this DUP	X	99984674	100024240	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.99984675_100024240dup	VUS	1 lab	d342106c0a
1:225264923 DNAH14 A>Alt too long to show for this DUP	1	225264923	225301258	A	Alt too long to show for this DUP	DNAH14	c.2425-1982_3868-4128dup	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225264927_225301258dup	VUS	1 lab	d2dbc79c85
12:59279632 LRIG3 A>G	12	59279632	59279632	A	G	LRIG3	c.1225T>C	NM_153377.5	NP_700356.2:p.(Leu409=)	NC_000012.11:g.59279632A>G	(Likely) benign	1 lab	d2df3c23fb
2:189949935 COL5A2 G>A	2	189949935	189949935	G	A	COL5A2	c.749C>T	NM_000393.5	NP_000384.2:p.(Pro250Leu)	NC_000002.11:g.189949935G>A	VUS	1 lab	d2e0f26a36
2:220494118 SLC4A3 A>T	2	220494118	220494118	A	T	SLC4A3	c.470A>T	NM_001326559.2	NP_001313488.2:p.(His157Leu)	NC_000002.11:g.220494118A>T	VUS	1 lab	d2e126eb94
10:71144198 HK1 C>T	10	71144198	71144198	C	T	HK1	c.1644C>T	NM_033500.2	NP_277035.2:p.(Tyr548=)	NC_000010.10:g.71144198C>T	(Likely) benign	1 lab	d2e97c4ed2
19:46032338 OPA3 T>A	19	46032338	46032338	T	A	OPA3	c.519A>T	NM_001017989.3	NP_001017989.2:p.(Pro173=)	NC_000019.9:g.46032338T>A	(Likely) benign	1 lab	d2e9e982e4
1:43232504 P3H1 C>A	1	43232504	43232504	C	A	P3H1	c.139G>T	NM_022356.4	NP_071751.3:p.(Ala47Ser)	NC_000001.10:g.43232504C>A	(Likely) benign	1 lab	d2ed29cfc8
2:220497117 SLC4A3 C>G	2	220497117	220497117	C	G	SLC4A3	c.1094C>G	NM_005070.4	NP_005061.3:p.(Ser365Trp)	NC_000002.11:g.220497117C>G	VUS	1 lab	d2efa42362
9:130592024 ENG A>T	9	130592024	130592024	A	T	ENG	c.302T>A	NM_000118.3	NP_000109.1:p.(Val101Glu)	NC_000009.11:g.130592024A>T	VUS	1 lab	d2f002a3b9
X:70444208 GJB1 T>A	X	70444208	70444208	T	A	GJB1	c.651T>A	NM_000166.6	NP_000157.1:p.(Cys217Ter)	NC_000023.10:g.70444208T>A	(Likely) pathogenic	1 lab	d2f6b4d187
19:55316398 KIR2DL4 G>A	19	55316398	55316398	G	A	KIR2DL4	c.227G>A	NM_001080772.2	NP_001074241.1:p.(Arg76Lys)	NC_000019.9:g.55316398G>A	(Likely) benign	1 lab	d2fd885376
11:22296138 ANO5 A>G	11	22296138	22296138	A	G	ANO5	c.2259A>G	NM_213599.3	NP_998764.1:p.(Ser753=)	NC_000011.9:g.22296138A>G	(Likely) benign	1 lab	d2fef933b3
1:214551360 PTPN14 C>T	1	214551360	214551360	C	T	PTPN14	c.2630G>A	NM_005401.5	NP_005392.2:p.(Arg877Gln)	NC_000001.10:g.214551360C>T	(Likely) benign	1 lab	d3019e61d3
16:72143311 DHX38 C>T	16	72143311	72143311	C	T	DHX38	c.3382-3C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72143311C>T	(Likely) benign	1 lab	d30273eb2a
14:75514722 MLH3 C>A	14	75514722	75514722	C	A	MLH3	c.1637G>T	NM_001040108.2	NP_001035197.1:p.(Arg546Ile)	NC_000014.8:g.75514722C>A	(Likely) benign	1 lab	d303d8f995
7:150644157 KCNH2 G>A	7	150644157	150644157	G	A	KCNH2	c.3153-15C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150644157G>A	(Likely) benign	1 lab	d30b2023c7
14:23863014 MYH6 T>C	14	23863014	23863014	T	C	MYH6	c.2789A>G	NM_002471.4	NP_002462.2:p.(Asp930Gly)	NC_000014.8:g.23863014T>C	VUS	1 lab	d30efa41b7
16:88495462 ZNF469 G>A	16	88495462	88495462	G	A	ZNF469	c.1584G>A	NM_001367624.2	NP_001354553.1:p.(Pro528=)	NC_000016.9:g.88495462G>A	(Likely) benign	1 lab	d31097847a
7:91730283 AKAP9 G>C	7	91730283	91730283	G	C	AKAP9	c.11010G>C	NM_005751.5	NP_005742.4:p.(Glu3670Asp)	NC_000007.13:g.91730283G>C	VUS	1 lab	d3141b0ece
3:57846577 SLMAP CA>C	3	57846577	57846587	CA	C	SLMAP	c.828+21del	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57846587del	(Likely) benign	1 lab	d36a4e9e12
1:211262060 MISSING A>Alt too long to show for this DUP	1	211262060	211874165	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.211262062_211874165dup	VUS	1 lab	d31a2def9d
8:6293668 MCPH1 C>CA	8	6293668	6293674	C	CA	MCPH1	c.427dup	NM_001322042.2	NP_001308971.2:p.(Thr143AsnfsTer5)	NC_000008.10:g.6293674dup	(Likely) pathogenic	1 lab	d32024f38c
X:153579360 FLNA T>C	X	153579360	153579360	T	C	FLNA	c.7073A>G	NM_001110556.2	NP_001104026.1:p.(Asn2358Ser)	NC_000023.10:g.153579360T>C	VUS	1 lab	d3219e4fbe
6:65767634 EYS G>GA	6	65767634	65767643	G	GA	EYS	c.2024-15dup	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65767643dup	(Likely) benign	1 lab	d3246fc385
12:11214360 TAS2R46 C>A	12	11214360	11214360	C	A	TAS2R46	c.534G>T	NM_176887.2	NP_795368.2:p.(Thr178=)	NC_000012.11:g.11214360C>A	(Likely) benign	1 lab	d326ed5516
15:89760342 RLBP1 TGGCCTC>T	15	89760342	89760348	TGGCCTC	T	RLBP1	c.346+3_346+8del	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89760343_89760348del	(Likely) benign	1 lab	d328536795
13:48835271 ITM2B A>C	13	48835271	48835271	A	C	ITM2B	c.716-4A>C	NM_021999.5	NP_068839.1:p.?	NC_000013.10:g.48835271A>C	(Likely) benign	1 lab	d329c4b0e3
14:19553451 POTEG C>T	14	19553451	19553451	C	T	POTEG	c.35C>T	NM_001005356.3	NP_001005356.1:p.(Ser12Phe)	NC_000014.8:g.19553451C>T	(Likely) benign	1 lab	d32eebe31a
4:47973119 CNGA1 T>TA	4	47973119	47973131	T	TA	CNGA1	c.-219-3dup	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47973131dup	(Likely) benign	1 lab	d3356ec8a9
2:179479458 TTN A>G	2	179479458	179479458	A	G	TTN	c.48783T>C	NM_001267550.2	NP_001254479.2:p.(Asp16261=)	NC_000002.11:g.179479458A>G	(Likely) benign	1 lab	d335c56944
X:49071722 CACNA1F G>A	X	49071722	49071722	G	A	CACNA1F	c.3472-18C>T	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49071722G>A	(Likely) benign	1 lab	d336854a25
2:21232986 APOB C>T	2	21232986	21232986	C	T	APOB	c.6754G>A	NM_000384.3	NP_000375.3:p.(Val2252Met)	NC_000002.11:g.21232986C>T	VUS	1 lab	d3379a119d
10:112583189 RBM20 CTTTTT>C	10	112583189	112583216	CTTTTT	C	RBM20	c.3317-26_3317-22del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583212_112583216del	(Likely) benign	1 lab	d338d963d5
4:55972974 KDR T>A	4	55972974	55972974	T	A	KDR	c.1416A>T	NM_002253.3	NP_002244.1:p.(Gln472His)	NC_000004.11:g.55972974T>A	(Likely) benign	1 lab	d33914ce62
5:90086825 ADGRV1 G>C	5	90086825	90086825	G	C	ADGRV1	c.14179G>C	NM_032119.4	NP_115495.3:p.(Glu4727Gln)	NC_000005.9:g.90086825G>C	VUS	1 lab	d33b170ef3
6:33405881 SYNGAP1 T>C	6	33405881	33405881	T	C	SYNGAP1	c.1199T>C	NM_006772.3	NP_006763.2:p.(Val400Ala)	NC_000006.11:g.33405881T>C	VUS	1 lab	d33b937424
12:112622505 HECTD4 T>C	12	112622505	112622505	T	C	HECTD4	c.10295A>G	NM_001109662.4	NP_001103132.4:p.(Asn3432Ser)	NC_000012.11:g.112622505T>C	VUS	1 lab	d33fbd614f
17:48273729 COL1A1 C>G	17	48273729	48273729	C	G	COL1A1	c.904-1G>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273729C>G	(Likely) pathogenic	1 lab	d341aeb14e
2:44052175 ABCG5 G>A	2	44052175	44052175	G	A	ABCG5	c.775-18C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052175G>A	(Likely) benign	1 lab	d3453d7e28
11:47356116 MYBPC3 C>CTT	11	47356116	47356129	C	CTT	MYBPC3	c.2905+475_2905+476dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356128_47356129dup	(Likely) benign	1 lab	d3456fb4ac
9:107660780 ABCA1 A>T	9	107660780	107660780	A	T	ABCA1	c.66+5115T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107660780A>T	(Likely) benign	1 lab	d347676363
7:12271452 TMEM106B A>G	7	12271452	12271452	A	G	TMEM106B	c.687-11A>G	NM_018374.4	NP_060844.2:p.?	NC_000007.13:g.12271452A>G	(Likely) benign	1 lab	d3528466fc
9:107558612 ABCA1 C>T	9	107558612	107558612	C	T	ABCA1	c.5215G>A	NM_005502.4	NP_005493.2:p.(Ala1739Thr)	NC_000009.11:g.107558612C>T	VUS	1 lab	d3530877ba
12:104378700 TDG T>G	12	104378700	104378700	T	G	TDG	c.964+2T>G	NM_003211.6	NP_003202.3:p.?	NC_000012.11:g.104378700T>G	(Likely) benign	1 lab	d354ddb8b7
11:5247698 HBB G>A	11	5247698	5247698	G	A	HBB	c.315+109C>T	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247698G>A	(Likely) benign	1 lab	d354e4c5e4
8:95793311 DPY19L4 G>GTTTT	8	95793311	95793317	G	GTTTT	DPY19L4	c.1635_1638dup	NM_181787.3	NP_861452.2:p.(Pro547PhefsTer16)	NC_000008.10:g.95793314_95793317dup	(Likely) benign	1 lab	d356a3a3b8
17:39913873 JUP TC>T	17	39913873	39913878	TC	T	JUP	c.1924+12del	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39913878del	(Likely) benign	1 lab	d356d1a991
2:44041651 ABCG5 A>G	2	44041651	44041651	A	G	ABCG5	c.1727T>C	NM_022436.3	NP_071881.1:p.(Val576Ala)	NC_000002.11:g.44041651A>G	VUS	1 lab	d3578b307d
9:80336434 GNAQ C>T	9	80336434	80336434	C	T	GNAQ	c.890-5G>A	NM_002072.5	NP_002063.2:p.?	NC_000009.11:g.80336434C>T	(Likely) benign	1 lab	d35aba9d5e
X:5811274 NLGN4X T>C	X	5811274	5811274	T	C	NLGN4X	c.2035A>G	NM_001282145.2	NP_001269074.1:p.(Ile679Val)	NC_000023.10:g.5811274T>C	VUS	1 lab	d35d4da0f2
17:43593475 MISSING Ref too long to show for this DEL>G	17	43593475	44364068	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.43593476_44364068del	(Likely) pathogenic	1 lab	d35e583f2a
2:70419851 MISSING Ref too long to show for this DEL>T	2	70419851	70437315	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.70419852_70437315del	VUS	1 lab	d35f3ec89d
X:70443828 GJB1 G>A	X	70443828	70443828	G	A	GJB1	c.271G>A	NM_000166.6	NP_000157.1:p.(Val91Met)	NC_000023.10:g.70443828G>A	(Likely) pathogenic	1 lab	d360e961ca
8:38876353 ADAM9 A>G	8	38876353	38876353	A	G	ADAM9	c.607-19A>G	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38876353A>G	(Likely) benign	1 lab	d36139b8cb
12:49579208 TUBA1A G>A	12	49579208	49579208	G	A	TUBA1A	c.941C>T	NM_001270399.2	NP_001257328.1:p.(Ala314Val)	NC_000012.11:g.49579208G>A	(Likely) pathogenic	1 lab	d3615110c6
4:74285983 ALB G>C	4	74285983	74285983	G	C	ALB	c.1798G>C	NM_000477.7	NP_000468.1:p.(Val600Leu)	NC_000004.11:g.74285983G>C	VUS	1 lab	d363a2cc38
12:32977198 PKP2 C>G	12	32977198	32977198	C	G	PKP2	c.1689-102G>C	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32977198C>G	(Likely) benign	1 lab	d3651afaee
1:153785901 GATAD2B A>AC	1	153785901	153785904	A	AC	GATAD2B	c.1243dup	NM_020699.4	NP_065750.1:p.(Val415GlyfsTer2)	NC_000001.10:g.153785904dup	(Likely) pathogenic	1 lab	d367df0511
6:112476767 LAMA4 A>C	6	112476767	112476767	A	C	LAMA4	c.1959T>G	NM_001105206.3	NP_001098676.2:p.(Asp653Glu)	NC_000006.11:g.112476767A>C	VUS	1 lab	d36c534431
18:34182725 FHOD3 G>A	18	34182725	34182725	G	A	FHOD3	c.807G>A	NM_001281740.3	NP_001268669.1:p.(Val269=)	NC_000018.9:g.34182725G>A	(Likely) benign	1 lab	d3718009ea
15:29353531 MISSING C>Alt too long to show for this DUP	15	29353531	29464250	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.29353532_29464250dup	VUS	1 lab	d372fa22b1
18:77474626 CTDP1 C>T	18	77474626	77474626	C	T	CTDP1	c.1166C>T	NM_048368.4	NP_430255.2:p.(Ala389Val)	NC_000018.9:g.77474626C>T	(Likely) benign	1 lab	d37983cd9a
2:47703808 MSH2 G>C	2	47703808	47703808	G	C	MSH2	c.2210+98G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703808G>C	(Likely) benign	1 lab	d37bf54861
9:32543980 TOPORS A>G	9	32543980	32543980	A	G	TOPORS	c.543T>C	NM_005802.5	NP_005793.2:p.(Arg181=)	NC_000009.11:g.32543980A>G	(Likely) benign	1 lab	d37f331aad
4:62404709 ADGRL3 C>Alt too long to show for this DUP	4	62404709	62445316	C	Alt too long to show for this DUP	ADGRL3	c.259+21476_260-7629dup	NM_001387552.1	NP_001374481.1:p.?	NC_000004.11:g.62404712_62445316dup	VUS	1 lab	d37fdb5174
2:179397075 TTN C>G	2	179397075	179397075	C	G	TTN	c.104267G>C	NM_001267550.2	NP_001254479.2:p.(Arg34756Thr)	NC_000002.11:g.179397075C>G	VUS	1 lab	d3831b1a39
2:179486377 TTN G>A	2	179486377	179486377	G	A	TTN	c.45174C>T	NM_001267550.2	NP_001254479.2:p.(Gly15058=)	NC_000002.11:g.179486377G>A	(Likely) benign	1 lab	d3843d57e5
18:50918223 DCC G>A	18	50918223	50918223	G	A	DCC	c.2654G>A	NM_005215.4	NP_005206.2:p.(Trp885Ter)	NC_000018.9:g.50918223G>A	(Likely) pathogenic	1 lab	d3931c1a07
2:212578349 ERBB4 G>A	2	212578349	212578349	G	A	ERBB4	c.908C>T	NM_005235.3	NP_005226.1:p.(Ser303Phe)	NC_000002.11:g.212578349G>A	(Likely) benign	1 lab	d3940fb557
15:85408122 ALPK3 G>T	15	85408122	85408122	G	T	ALPK3	c.4723+226G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85408122G>T	(Likely) benign	1 lab	d3943e0a27
10:88476449 LDB3 A>G	10	88476449	88476449	A	G	LDB3	c.1612A>G	NM_001171610.2	NP_001165081.1:p.(Arg538Gly)	NC_000010.10:g.88476449A>G	VUS	1 lab	d397041781
6:64516110 EYS T>C	6	64516110	64516110	T	C	EYS	c.7384A>G	NM_001292009.2	NP_001278938.1:p.(Ile2462Val)	NC_000006.11:g.64516110T>C	(Likely) benign	1 lab	d398c9f6b6
5:148392248 SH3TC2 T>C	5	148392248	148392248	T	C	SH3TC2	c.3103A>G	NM_024577.4	NP_078853.2:p.(Ile1035Val)	NC_000005.9:g.148392248T>C	VUS	1 lab	d39adafb04
17:41245669 BRCA1 C>T	17	41245669	41245669	C	T	BRCA1	c.1879G>A	NM_007294.4	NP_009225.1:p.(Val627Ile)	NC_000017.10:g.41245669C>T	(Likely) benign	1 lab	d3ac3ae335
12:122252569 SETD1B C>G	12	122252569	122252569	C	G	SETD1B	c.2448C>G	NM_001353345.2	NP_001340274.1:p.(Pro816=)	NC_000012.11:g.122252569C>G	(Likely) benign	1 lab	d3a172a825
X:153792708 MISSING G>Alt too long to show for this DUP	X	153792708	153989589	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153792709_153989589dup	VUS	1 lab	d3a4e570b3
X:70443880 GJB1 T>C	X	70443880	70443880	T	C	GJB1	c.323T>C	NM_000166.6	NP_000157.1:p.(Leu108Pro)	NC_000023.10:g.70443880T>C	(Likely) pathogenic	1 lab	d3a5251874
1:3328486 PRDM16 C>T	1	3328486	3328486	C	T	PRDM16	c.1725C>T	NM_022114.4	NP_071397.3:p.(Pro575=)	NC_000001.10:g.3328486C>T	(Likely) benign	1 lab	d3a588952b
9:67938664 ANKRD20A1 A>T	9	67938664	67938664	A	T	ANKRD20A1	c.793+6A>T	NM_032250.5	NP_115626.2:p.?	NC_000009.11:g.67938664A>T	(Likely) benign	1 lab	d3a66a5a81
6:75844280 COL12A1 C>G	6	75844280	75844280	C	G	COL12A1	c.5524+162G>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75844280C>G	(Likely) benign	1 lab	d3a8936a22
19:11170537 SMARCA4 G>A	19	11170537	11170537	G	A	SMARCA4	c.4840G>A	NM_001128849.3	NP_001122321.1:p.(Glu1614Lys)	NC_000019.9:g.11170537G>A	VUS	1 lab	d3aa3abf5c
19:11226820 LDLR G>A	19	11226820	11226820	G	A	LDLR	c.1637G>A	NM_000527.5	NP_000518.1:p.(Gly546Asp)	NC_000019.9:g.11226820G>A	(Likely) pathogenic	1 lab	d3acf6c07a
9:119326559 ASTN2 Ref too long to show for this DEL>A	9	119326559	119677555	Ref too long to show for this DEL	A	ASTN2	c.1890-51541_3355+54043del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119326562_119677555del	VUS	1 lab	d3adf8ca7a
6:104939488 MISSING Ref too long to show for this DEL>T	6	104939488	108793577	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.104939489_108793577del	(Likely) pathogenic	1 lab	d3af1bebfb
4:128813590 PLK4 C>A	4	128813590	128813590	C	A	PLK4	c.2109C>A	NM_014264.5	NP_055079.3:p.(Ile703=)	NC_000004.11:g.128813590C>A	(Likely) benign	1 lab	d3b1d0ae5a
17:40717674 COASY C>G	17	40717674	40717674	C	G	COASY	c.1486-3C>G	NM_025233.7	NP_079509.5:p.?	NC_000017.10:g.40717674C>G	VUS	1 lab	d3b363d071
20:45358098 SLC2A10 A>G	20	45358098	45358098	A	G	SLC2A10	c.1518A>G	NM_030777.4	NP_110404.1:p.(Ala506=)	NC_000020.10:g.45358098A>G	(Likely) benign	1 lab	d3b8312730
16:904721 LMF1 A>G	16	904721	904721	A	G	LMF1	c.1530-15T>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.904721A>G	(Likely) benign	1 lab	d3bb0c68fa
7:2391884 MISSING Ref too long to show for this DEL>T	7	2391884	2523309	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.2391886_2523309del	VUS	1 lab	d3bc4a2787
6:16327915 ATXN1 A>ATGCTGCTGC	6	16327915	16327955	A	ATGCTGCTGC	ATXN1	c.618_626dup	NM_000332.3	NP_000323.2:p.(Gln206_Gln208dup)	NC_000006.11:g.16327947_16327955dup	(Likely) benign	1 lab	d3c12b8fc9
3:52442055 BAP1 G>A	3	52442055	52442055	G	A	BAP1	c.294C>T	NM_004656.4	NP_004647.1:p.(Ser98=)	NC_000003.11:g.52442055G>A	(Likely) benign	1 lab	d3c47ef70b
11:47359115 MYBPC3 C>T	11	47359115	47359115	C	T	MYBPC3	c.2429G>A	NM_000256.3	NP_000247.2:p.(Arg810His)	NC_000011.9:g.47359115C>T	VUS	1 lab	d3cb9c4181
1:43771016 TIE1 TA>T	1	43771016	43771019	TA	T	TIE1	c.484+5del	NM_005424.5	NP_005415.1:p.?	NC_000001.10:g.43771019del	(Likely) benign	1 lab	d3cca19cbd
7:128481180 FLNC C>G	7	128481180	128481180	C	G	FLNC	c.1814-44C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481180C>G	(Likely) benign	1 lab	d3ccb99ea6
10:18803444 CACNB2 G>T	10	18803444	18803444	G	T	CACNB2	c.591G>T	NM_001167945.2	NP_001161417.1:p.(Lys197Asn)	NC_000010.10:g.18803444G>T	VUS	1 lab	d3d058a007
8:100168779 VPS13B C>T	8	100168779	100168779	C	T	VPS13B	c.2016C>T	NM_017890.5	NP_060360.3:p.(Asn672=)	NC_000008.10:g.100168779C>T	(Likely) benign	1 lab	d3d14605fe
6:135709167 AHI1 ACTGT>A	6	135709167	135709174	ACTGT	A	AHI1	c.3110_3113del	NM_001134832.2	NP_001128304.1:p.(Asp1037ValfsTer41)	NC_000006.11:g.135709171_135709174del	VUS	1 lab	d3d2596617
15:73029915 BBS4 TAA>T	15	73029915	73029917	TAA	T	BBS4	c.1548_1549del	NM_033028.5	NP_149017.2:p.(Ile516MetfsTer8)	NC_000015.9:g.73029916_73029917del	(Likely) benign	1 lab	d3d3c25c4b
11:68705705 IGHMBP2 C>T	11	68705705	68705705	C	T	IGHMBP2	c.2667C>T	NM_002180.3	NP_002171.2:p.(Ala889=)	NC_000011.9:g.68705705C>T	(Likely) benign	1 lab	d3d632b353
6:4920248 MISSING C>Alt too long to show for this DUP	6	4920248	5192901	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.4920249_5192901dup	VUS	1 lab	d3d7289dc5
13:32910840 BRCA2 T>G	13	32910840	32910840	T	G	BRCA2	c.2348T>G	NM_000059.4	NP_000050.3:p.(Val783Gly)	NC_000013.10:g.32910840T>G	(Likely) benign	1 lab	d3db1580f4
9:98244446 PTCH1 C>T	9	98244446	98244446	C	T	PTCH1	c.624G>A	NM_000264.5	NP_000255.2:p.(Glu208=)	NC_000009.11:g.98244446C>T	(Likely) benign	1 lab	d3dcf1d3de
6:170789726 MISSING C>Alt too long to show for this DUP	6	170789726	170881704	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.170789727_170881704dup	VUS	1 lab	d3dd6e15ce
5:127664441 FBN2 C>T	5	127664441	127664441	C	T	FBN2	c.4418G>A	NM_001999.4	NP_001990.2:p.(Arg1473His)	NC_000005.9:g.127664441C>T	VUS	1 lab	d3df137ac4
13:36012735 NBEA T>Alt too long to show for this DUP	13	36012735	36091279	T	Alt too long to show for this DUP	NBEA	c.6304+6207_6586-33335dup	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.36012737_36091279dup	VUS	1 lab	d3e1395910
1:115829363 NGF C>T	1	115829363	115829363	C	T	NGF	c.54G>A	NM_002506.3	NP_002497.2:p.(Ala18=)	NC_000001.10:g.115829363C>T	(Likely) benign	1 lab	d3e334ff70
6:33400583 SYNGAP1 G>T	6	33400583	33400583	G	T	SYNGAP1	c.509G>T	NM_006772.3	NP_006763.2:p.(Arg170Leu)	NC_000006.11:g.33400583G>T	(Likely) pathogenic	1 lab	d3e67ca1a9
7:150647487 KCNH2 A>C	7	150647487	150647487	A	C	KCNH2	c.2167T>G	NM_000238.4	NP_000229.1:p.(Cys723Gly)	NC_000007.13:g.150647487A>C	VUS	1 lab	d3e758c045
8:144298869 GPIHBP1 C>T	8	144298869	144298869	C	T	GPIHBP1	c.*1477C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298869C>T	VUS	1 lab	d3e8430cb8
2:47600630 EPCAM C>T	2	47600630	47600630	C	T	EPCAM	c.105C>T	NM_002354.3	NP_002345.2:p.(Ala35=)	NC_000002.11:g.47600630C>T	(Likely) benign	1 lab	d3ea56e76c
9:399233 DOCK8 A>G	9	399233	399233	A	G	DOCK8	c.3208A>G	NM_203447.4	NP_982272.2:p.(Asn1070Asp)	NC_000009.11:g.399233A>G	(Likely) benign	1 lab	d3ee2441cc
5:125930693 ALDH7A1 G>A	5	125930693	125930693	G	A	ALDH7A1	c.192+6C>T	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125930693G>A	VUS	1 lab	d3ee6ac744
15:67473586 SMAD3 G>A	15	67473586	67473586	G	A	SMAD3	c.666G>A	NM_005902.4	NP_005893.1:p.(Gln222=)	NC_000015.9:g.67473586G>A	(Likely) benign	1 lab	d3ef11ec4c
11:116661394 APOA5 G>GT	11	116661394	116661395	G	GT	APOA5	c.550dup	NM_052968.5	NP_443200.2:p.(Thr184AsnfsTer84)	NC_000011.9:g.116661395dup	(Likely) pathogenic	1 lab	d3ef7b36ab
4:47939190 CNGA1 G>C	4	47939190	47939190	G	C	CNGA1	c.1309C>G	NM_001142564.2	NP_001136036.2:p.(Leu437Val)	NC_000004.11:g.47939190G>C	VUS	1 lab	d3f1db7a9f
1:237961338 RYR2 T>C	1	237961338	237961338	T	C	RYR2	c.13958T>C	NM_001035.3	NP_001026.2:p.(Val4653Ala)	NC_000001.10:g.237961338T>C	(Likely) pathogenic	1 lab	d3f2b90f5c
5:16617062 RETREG1 G>A	5	16617062	16617062	G	A	RETREG1	c.19C>T	NM_001034850.3	NP_001030022.1:p.(Pro7Ser)	NC_000005.9:g.16617062G>A	VUS	1 lab	d3f48e38d6
19:11231158 LDLR C>A	19	11231158	11231158	C	A	LDLR	c.2100C>A	NM_000527.5	NP_000518.1:p.(Asp700Glu)	NC_000019.9:g.11231158C>A	VUS	1 lab	d3f494f475
1:237801689 RYR2 A>T	1	237801689	237801689	A	T	RYR2	c.6825A>T	NM_001035.3	NP_001026.2:p.(Gln2275His)	NC_000001.10:g.237801689A>T	VUS	1 lab	d3f58a2d86
6:16145482 MYLIP G>T	6	16145482	16145482	G	T	MYLIP	c.1182G>T	NM_013262.4	NP_037394.2:p.(Glu394Asp)	NC_000006.11:g.16145482G>T	VUS	1 lab	d3f75ebfb1
7:117235054 CFTR C>T	7	117235054	117235054	C	T	CFTR	c.2561C>T	NM_000492.4	NP_000483.3:p.(Thr854Ile)	NC_000007.13:g.117235054C>T	VUS	1 lab	d3f8b7111b
9:101911447 TGFBR1 T>TA	9	101911447	101911448	T	TA	TGFBR1	c.1387-14dup	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101911448dup	(Likely) benign	1 lab	d3f9adf459
16:89836656 FANCA C>A	16	89836656	89836656	C	A	FANCA	c.2234G>T	NM_000135.4	NP_000126.2:p.(Trp745Leu)	NC_000016.9:g.89836656C>A	VUS	1 lab	d3f9eb0fc9
19:55367150 KIR3DL2 T>C	19	55367150	55367150	T	C	KIR3DL2	c.732T>C	NM_006737.4	NP_006728.2:p.(Cys244=)	NC_000019.9:g.55367150T>C	(Likely) benign	1 lab	d400c74010
7:150647399 KCNH2 C>G	7	150647399	150647399	C	G	KCNH2	c.2255G>C	NM_000238.4	NP_000229.1:p.(Arg752Pro)	NC_000007.13:g.150647399C>G	(Likely) pathogenic	1 lab	d404a0f735
16:88497350 ZNF469 C>T	16	88497350	88497350	C	T	ZNF469	c.3472C>T	NM_001367624.2	NP_001354553.1:p.(Pro1158Ser)	NC_000016.9:g.88497350C>T	(Likely) benign	1 lab	d40748958f
5:127873000 FBN2 C>T	5	127873000	127873000	C	T	FBN2	c.254+43G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127873000C>T	(Likely) benign	1 lab	d407ab0eb3
12:2786253 CACNA1C G>A	12	2786253	2786253	G	A	CACNA1C	c.4973-7G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2786253G>A	(Likely) benign	1 lab	d45559b5c6
9:2087027 SMARCA2 T>A	9	2087027	2087027	T	A	SMARCA2	c.2725T>A	NM_003070.5	NP_003061.3:p.(Phe909Ile)	NC_000009.11:g.2087027T>A	(Likely) pathogenic	1 lab	d40bee773f
19:11227665 LDLR C>T	19	11227665	11227665	C	T	LDLR	c.1836C>T	NM_000527.5	NP_000518.1:p.(Ala612=)	NC_000019.9:g.11227665C>T	(Likely) benign	1 lab	d40df01136
10:95394509 PDE6C T>C	10	95394509	95394509	T	C	PDE6C	c.1120-6T>C	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95394509T>C	(Likely) benign	1 lab	d40f226472
11:47365177 MYBPC3 T>G	11	47365177	47365177	T	G	MYBPC3	c.1091-2A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365177T>G	(Likely) pathogenic	1 lab	d41460b265
11:6645209 DCHS1 T>C	11	6645209	6645209	T	C	DCHS1	c.7698A>G	NM_003737.4	NP_003728.1:p.(Thr2566=)	NC_000011.9:g.6645209T>C	(Likely) benign	1 lab	d4146d0153
17:29508819 NF1 ATT>A	17	29508819	29508835	ATT	A	NF1	c.730+31_730+32del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508834_29508835del	(Likely) benign	1 lab	d41b670afa
19:5843969 FUT3 G>A	19	5843969	5843969	G	A	FUT3	c.882C>T	NM_000149.4	NP_000140.1:p.(Asp294=)	NC_000019.9:g.5843969G>A	(Likely) benign	1 lab	d41c8f6edf
16:88495123 ZNF469 G>C	16	88495123	88495123	G	C	ZNF469	c.1245G>C	NM_001367624.2	NP_001354553.1:p.(Gly415=)	NC_000016.9:g.88495123G>C	(Likely) benign	1 lab	d41e570312
2:44079777 ABCG8 G>C	2	44079777	44079777	G	C	ABCG8	c.734G>C	NM_022437.3	NP_071882.1:p.(Ser245Thr)	NC_000002.11:g.44079777G>C	VUS	1 lab	d427145585
2:179586724 TTN G>A	2	179586724	179586724	G	A	TTN	c.22666C>T	NM_001267550.2	NP_001254479.2:p.(Arg7556Cys)	NC_000002.11:g.179586724G>A	VUS	1 lab	d42717e76c
12:122247808 SETD1B C>T	12	122247808	122247808	C	T	SETD1B	c.957C>T	NM_001353345.2	NP_001340274.1:p.(Asp319=)	NC_000012.11:g.122247808C>T	(Likely) benign	1 lab	d428f0216c
11:2593313 KCNQ1 G>C	11	2593313	2593313	G	C	KCNQ1	c.754G>C	NM_000218.3	NP_000209.2:p.(Gly252Arg)	NC_000011.9:g.2593313G>C	VUS	1 lab	d42b440fa2
12:33025399 PKP2 T>C	12	33025399	33025399	T	C	PKP2	c.1035-3403A>G	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.33025399T>C	(Likely) benign	1 lab	d42bf0dc3a
14:81563043 TSHR G>T	14	81563043	81563043	G	T	TSHR	c.606G>T	NM_000369.5	NP_000360.2:p.(Leu202=)	NC_000014.8:g.81563043G>T	(Likely) benign	1 lab	d42f523110
11:68696746 IGHMBP2 T>C	11	68696746	68696746	T	C	IGHMBP2	c.1156T>C	NM_002180.3	NP_002171.2:p.(Trp386Arg)	NC_000011.9:g.68696746T>C	(Likely) pathogenic	1 lab	d430976a0b
11:102195915 BIRC3 C>A	11	102195915	102195915	C	A	BIRC3	c.675C>A	NM_001165.5	NP_001156.1:p.(His225Gln)	NC_000011.9:g.102195915C>A	VUS	1 lab	d430b61cd9
22:39629516 PDGFB G>A	22	39629516	39629516	G	A	PDGFB	c.174C>T	NM_002608.4	NP_002599.1:p.(Ala58=)	NC_000022.10:g.39629516G>A	(Likely) benign	1 lab	d439340705
X:118605012 SLC25A5 G>C	X	118605012	118605012	G	C	SLC25A5	c.888G>C	NM_001152.5	NP_001143.2:p.(Lys296Asn)	NC_000023.10:g.118605012G>C	(Likely) benign	1 lab	d454a4721e
9:6215817 IL33 Ref too long to show for this DEL>A	9	6215817	6244723	Ref too long to show for this DEL	A	IL33	c.-45_91+2938del	NM_033439.4	NP_254274.1:p.?	NC_000009.11:g.6215819_6244723del	(Likely) pathogenic	1 lab	d43b1b2ffd
3:85440591 CADM2 Ref too long to show for this DEL>C	3	85440591	85582824	Ref too long to show for this DEL	C	CADM2	c.62-335080_62-192848del	NM_001167675.2	NP_001161147.1:p.?	NC_000003.11:g.85440592_85582824del	VUS	1 lab	d43b66e1ce
X:70613074 TAF1 T>TTG	X	70613074	70613115	T	TTG	TAF1	c.3052-37_3052-36dup	NM_001286074.2	NP_001273003.2:p.?	NC_000023.10:g.70613114_70613115dup	(Likely) benign	1 lab	d43cd476ca
3:62358191 FEZF2 G>GC	3	62358191	62358198	G	GC	FEZF2	c.352dup	NM_018008.4	NP_060478.3:p.(Ala118GlyfsTer67)	NC_000003.11:g.62358198dup	(Likely) pathogenic	1 lab	d443dfa45d
5:127666551 FBN2 G>A	5	127666551	127666551	G	A	FBN2	c.4223-164C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127666551G>A	(Likely) benign	1 lab	d4442141e4
7:21934379 DNAH11 C>T	7	21934379	21934379	C	T	DNAH11	c.12889C>T	NM_001277115.2	NP_001264044.1:p.(Arg4297Trp)	NC_000007.13:g.21934379C>T	VUS	1 lab	d4448caa04
10:89623717 PTEN G>A	10	89623717	89623717	G	A	PTEN	c.-510G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623717G>A	(Likely) benign	1 lab	d4474a76bb
16:9892323 GRIN2A T>A	16	9892323	9892323	T	A	GRIN2A	c.2169-2A>T	NM_001134407.3	NP_001127879.1:p.?	NC_000016.9:g.9892323T>A	(Likely) pathogenic	1 lab	d448a29829
9:130257631 LRSAM1 G>A	9	130257631	130257631	G	A	LRSAM1	c.1632G>A	NM_138361.5	NP_612370.3:p.(Gln544=)	NC_000009.11:g.130257631G>A	(Likely) benign	1 lab	d44c35a3dc
8:59410986 CYP7A1 G>A	8	59410986	59410986	G	A	CYP7A1	c.123C>T	NM_000780.4	NP_000771.2:p.(Tyr41=)	NC_000008.10:g.59410986G>A	(Likely) benign	1 lab	d45094fcee
17:46024085 PNPO C>G	17	46024085	46024085	C	G	PNPO	c.723C>G	NM_018129.4	NP_060599.1:p.(Ser241=)	NC_000017.10:g.46024085C>G	(Likely) benign	1 lab	d453977906
2:21239861 APOB AT>A	2	21239861	21239862	AT	A	APOB	c.3122-341del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239862del	(Likely) benign	1 lab	d4586de59e
2:21229220 APOB C>T	2	21229220	21229220	C	T	APOB	c.10520G>A	NM_000384.3	NP_000375.3:p.(Arg3507Gln)	NC_000002.11:g.21229220C>T	VUS	1 lab	d45a172caa
9:137623340 COL5A1 A>G	9	137623340	137623340	A	G	COL5A1	c.1165-2A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623340A>G	(Likely) pathogenic	1 lab	d46106b82d
4:114280063 ANK2 A>C	4	114280063	114280063	A	C	ANK2	c.10430A>C	NM_001386174.1	NP_001373103.1:p.(Glu3477Ala)	NC_000004.11:g.114280063A>C	(Likely) benign	1 lab	d461cc95e8
12:124366150 DNAH10 CTT>C	12	124366150	124366163	CTT	C	DNAH10	c.8281-10_8281-9del	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124366162_124366163del	(Likely) benign	1 lab	d463688950
2:179413138 TTN C>T	2	179413138	179413138	C	T	TTN	c.93215G>A	NM_001267550.2	NP_001254479.2:p.(Arg31072His)	NC_000002.11:g.179413138C>T	(Likely) benign	1 lab	d466a9ba40
1:8418302 RERE G>T	1	8418302	8418302	G	T	RERE	c.4293C>A	NM_012102.4	NP_036234.3:p.(His1431Gln)	NC_000001.10:g.8418302G>T	(Likely) pathogenic	1 lab	d466e2685e
5:125918662 ALDH7A1 G>C	5	125918662	125918662	G	C	ALDH7A1	c.398C>G	NM_001182.5	NP_001173.2:p.(Ser133Cys)	NC_000005.9:g.125918662G>C	VUS	1 lab	d4684b92b1
2:21225581 APOB C>T	2	21225581	21225581	C	T	APOB	c.12713G>A	NM_000384.3	NP_000375.3:p.(Gly4238Asp)	NC_000002.11:g.21225581C>T	VUS	1 lab	d468f9383b
16:57974224 CNGB1 C>CA	16	57974224	57974225	C	CA	CNGB1	c.1122_1123insT	NM_001297.5	NP_001288.3:p.(Val375CysfsTer5)	NC_000016.9:g.57974224_57974225insA	(Likely) pathogenic	1 lab	d46a0e986b
1:201020217 CACNA1S C>T	1	201020217	201020217	C	T	CACNA1S	c.4008G>A	NM_000069.3	NP_000060.2:p.(Lys1336=)	NC_000001.10:g.201020217C>T	(Likely) benign	1 lab	d46cf75478
13:109793342 MYO16 G>A	13	109793342	109793342	G	A	MYO16	c.4782G>A	NM_001198950.3	NP_001185879.1:p.(Thr1594=)	NC_000013.10:g.109793342G>A	(Likely) benign	1 lab	d46ff48193
6:42666186 PRPH2 G>A	6	42666186	42666186	G	A	PRPH2	c.888C>T	NM_000322.5	NP_000313.2:p.(Pro296=)	NC_000006.11:g.42666186G>A	(Likely) benign	1 lab	d471c37043
16:17353152 XYLT1 T>C	16	17353152	17353152	T	C	XYLT1	c.606A>G	NM_022166.4	NP_071449.1:p.(Lys202=)	NC_000016.9:g.17353152T>C	(Likely) benign	1 lab	d47b407ab8
17:48267210 COL1A1 T>G	17	48267210	48267210	T	G	COL1A1	c.2613+10A>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267210T>G	(Likely) benign	1 lab	d47f8080a5
1:3328584 PRDM16 A>C	1	3328584	3328584	A	C	PRDM16	c.1823A>C	NM_022114.4	NP_071397.3:p.(Asn608Thr)	NC_000001.10:g.3328584A>C	VUS	1 lab	d4849540d4
12:49433908 KMT2D G>C	12	49433908	49433908	G	C	KMT2D	c.7645C>G	NM_003482.4	NP_003473.3:p.(Pro2549Ala)	NC_000012.11:g.49433908G>C	VUS	1 lab	d48c9b02f9
1:237617751 RYR2 C>T	1	237617751	237617751	C	T	RYR2	c.1353C>T	NM_001035.3	NP_001026.2:p.(Ser451=)	NC_000001.10:g.237617751C>T	(Likely) benign	1 lab	d48ef6b2da
9:107555525 ABCA1 C>T	9	107555525	107555525	C	T	ABCA1	c.5563G>A	NM_005502.4	NP_005493.2:p.(Ala1855Thr)	NC_000009.11:g.107555525C>T	(Likely) benign	1 lab	d4900d2e0f
6:75892836 COL12A1 C>T	6	75892836	75892836	C	T	COL12A1	c.1821G>A	NM_004370.6	NP_004361.3:p.(Arg607=)	NC_000006.11:g.75892836C>T	(Likely) benign	1 lab	d491a75fec
2:179456820 TTN G>A	2	179456820	179456820	G	A	TTN	c.52107C>T	NM_133378.4	NP_596869.4:p.(Phe17369=)	NC_000002.11:g.179456820G>A	(Likely) benign	1 lab	d4983dd441
22:31333655 MORC2 G>C	22	31333655	31333655	G	C	MORC2	c.1227C>G	NM_014941.3	NP_055756.1:p.(Leu409=)	NC_000022.10:g.31333655G>C	(Likely) benign	1 lab	d498830fdd
3:38662356 SCN5A C>T	3	38662356	38662356	C	T	SCN5A	c.589G>A	NM_198056.3	NP_932173.1:p.(Asp197Asn)	NC_000003.11:g.38662356C>T	(Likely) pathogenic	1 lab	d49c53f0a4
X:76937389 ATRX T>A	X	76937389	76937389	T	A	ATRX	c.3359A>T	NM_000489.6	NP_000480.3:p.(Asp1120Val)	NC_000023.10:g.76937389T>A	VUS	1 lab	d49dd42eba
12:48516553 PFKM G>A	12	48516553	48516553	G	A	PFKM	c.209G>A	NM_001166686.2	NP_001160158.1:p.(Trp70Ter)	NC_000012.11:g.48516553G>A	VUS	1 lab	d4a020f367
16:919870 LMF1 G>A	16	919870	919870	G	A	LMF1	c.1416+13C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.919870G>A	(Likely) benign	1 lab	d4a13cec3b
2:44101636 ABCG8 G>T	2	44101636	44101636	G	T	ABCG8	c.1488+14G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101636G>T	VUS	1 lab	d4a4ae5c4c
14:23853725 MYH6 C>T	14	23853725	23853725	C	T	MYH6	c.5491G>A	NM_002471.4	NP_002462.2:p.(Glu1831Lys)	NC_000014.8:g.23853725C>T	VUS	1 lab	d4a5f0bd6e
12:50498504 GPD1 C>T	12	50498504	50498504	C	T	GPD1	c.189C>T	NM_005276.4	NP_005267.2:p.(Tyr63=)	NC_000012.11:g.50498504C>T	(Likely) benign	1 lab	d4cf3c4eb4
19:11200082 LDLR A>C	19	11200082	11200082	A	C	LDLR				NC_000019.9:g.11200082A>C	VUS	1 lab	d4a9f4ebf7
3:32201178 GPD1L A>C	3	32201178	32201178	A	C	GPD1L	c.959+12A>C	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32201178A>C	(Likely) benign	1 lab	d4ab048681
2:179444426 TTN C>T	2	179444426	179444426	C	T	TTN	c.67498G>A	NM_001267550.2	NP_001254479.2:p.(Val22500Ile)	NC_000002.11:g.179444426C>T	VUS	1 lab	d4ac569ad5
4:46252462 GABRA2 C>T	4	46252462	46252462	C	T	GABRA2	c.1219G>A	NM_001114175.3	NP_001107647.1:p.(Ala407Thr)	NC_000004.11:g.46252462C>T	VUS	1 lab	d4ad8799ad
7:50607694 DDC G>A	7	50607694	50607694	G	A	DDC	c.234C>T	NM_001082971.2	NP_001076440.2:p.(Ala78=)	NC_000007.13:g.50607694G>A	(Likely) benign	1 lab	d4ae983805
2:21229908 APOB C>G	2	21229908	21229908	C	G	APOB	c.9832G>C	NM_000384.3	NP_000375.3:p.(Val3278Leu)	NC_000002.11:g.21229908C>G	VUS	1 lab	d4afd1a84e
4:121719594 PRDM5 A>G	4	121719594	121719594	A	G	PRDM5	c.1031-15T>C	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121719594A>G	(Likely) benign	1 lab	d4b02dc141
11:47356737 MYBPC3 G>A	11	47356737	47356737	G	A	MYBPC3	c.2761C>T	NM_000256.3	NP_000247.2:p.(Gln921Ter)	NC_000011.9:g.47356737G>A	(Likely) pathogenic	1 lab	d4b0b59918
13:96410016 DNAJC3 C>T	13	96410016	96410016	C	T	DNAJC3	c.512C>T	NM_006260.5	NP_006251.1:p.(Thr171Ile)	NC_000013.10:g.96410016C>T	VUS	1 lab	d4b50655af
15:23890893 MAGEL2 TG>T	15	23890893	23890900	TG	T	MAGEL2	c.1996del	NM_019066.5	NP_061939.3:p.(Gln666SerfsTer36)	NC_000015.9:g.23890900del	(Likely) pathogenic	1 lab	d4bbb15d6a
18:48573268 SMAD4 C>CT	18	48573268	48573280	C	CT	SMAD4	c.-127-10dup	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573280dup	(Likely) benign	1 lab	d4bcc9bc36
6:32551961 HLA-DRB1 G>GT	6	32551961	32551962	G	GT	HLA-DRB1	c.294_295insA	NM_002124.4	NP_002115.2:p.(Gln99ThrfsTer29)	NC_000006.11:g.32551961_32551962insT	(Likely) benign	1 lab	d4bf0e0ada
4:154245268 TRIM2 A>G	4	154245268	154245268	A	G	TRIM2	c.1921A>G	NM_001351056.2	NP_001337985.1:p.(Ile641Val)	NC_000004.11:g.154245268A>G	VUS	1 lab	d4c04d4036
15:45398760 DUOX2 G>A	15	45398760	45398760	G	A	DUOX2	c.1911C>T	NM_014080.5	NP_054799.4:p.(Ser637=)	NC_000015.9:g.45398760G>A	(Likely) benign	1 lab	d4c17b66bf
X:84990562 MISSING G>Alt too long to show for this DUP	X	84990562	85117148	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.84990565_85117148dup	VUS	1 lab	d4c6fdbaa8
11:119214515 C1QTNF5 G>C	11	119214515	119214515	G	C	C1QTNF5	c.-1513+11C>G	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119214515G>C	(Likely) benign	1 lab	d4c8859dba
10:71139813 HK1 G>A	10	71139813	71139813	G	A	HK1	c.1332G>A	NM_001322365.2	NP_001309294.1:p.(Thr444=)	NC_000010.10:g.71139813G>A	(Likely) benign	1 lab	d4c942df15
17:39975806 FKBP10 T>C	17	39975806	39975806	T	C	FKBP10	c.942T>C	NM_021939.4	NP_068758.3:p.(Asn314=)	NC_000017.10:g.39975806T>C	(Likely) benign	1 lab	d4c9f1ee7e
2:220334086 SPEG C>T	2	220334086	220334086	C	T	SPEG	c.3700C>T	NM_005876.5	NP_005867.3:p.(Arg1234Trp)	NC_000002.11:g.220334086C>T	(Likely) benign	1 lab	d4caed5282
1:116931378 ATP1A1 C>A	1	116931378	116931378	C	A	ATP1A1	c.620C>A	NM_001160233.2	NP_001153705.1:p.(Ser207Tyr)	NC_000001.10:g.116931378C>A	VUS	1 lab	d4cb4d8d84
8:108315599 ANGPT1 C>CA	8	108315599	108315614	C	CA	ANGPT1	c.809-5dup	NM_001146.5	NP_001137.2:p.?	NC_000008.10:g.108315614dup	(Likely) benign	1 lab	d4cf10ae28
19:11217347 LDLR A>T	19	11217347	11217347	A	T	LDLR	c.801A>T	NM_000527.5	NP_000518.1:p.(Glu267Asp)	NC_000019.9:g.11217347A>T	(Likely) pathogenic	1 lab	d4cf544120
17:78092541 GAA G>A	17	78092541	78092541	G	A	GAA	c.2736G>A	NM_000152.5	NP_000143.2:p.(Ala912=)	NC_000017.10:g.78092541G>A	(Likely) benign	1 lab	d4cfa07724
6:65300273 EYS T>C	6	65300273	65300273	T	C	EYS	c.5487A>G	NM_001292009.2	NP_001278938.1:p.(Lys1829=)	NC_000006.11:g.65300273T>C	(Likely) benign	1 lab	d4d1cfc668
16:88498477 ZNF469 A>C	16	88498477	88498477	A	C	ZNF469	c.4599A>C	NM_001367624.2	NP_001354553.1:p.(Thr1533=)	NC_000016.9:g.88498477A>C	(Likely) benign	1 lab	d4d30cd9f9
2:44101550 ABCG8 C>T	2	44101550	44101550	C	T	ABCG8	c.1416C>T	NM_022437.3	NP_071882.1:p.(Tyr472=)	NC_000002.11:g.44101550C>T	(Likely) benign	1 lab	d4d545ab1f
8:19806150 LPL T>G	8	19806150	19806150	T	G	LPL	c.249+299T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19806150T>G	(Likely) benign	1 lab	d4d8a168ee
10:18439784 CACNB2 CTTTTTTT>C	10	18439784	18439809	CTTTTTTT	C	CACNB2	c.37-9_37-3del	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439803_18439809del	(Likely) benign	1 lab	d4dc17cee5
5:179718081 MISSING C>Alt too long to show for this DUP	5	179718081	179997702	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.179718083_179997702dup	VUS	1 lab	d4dc544edb
8:145001697 PLEC G>A	8	145001697	145001697	G	A	PLEC	c.4048C>T	NM_201380.4	NP_958782.1:p.(Arg1350Cys)	NC_000008.10:g.145001697G>A	VUS	1 lab	d4e20bc2e8
10:71142492 HK1 C>T	10	71142492	71142492	C	T	HK1	c.1620C>T	NM_001322365.2	NP_001309294.1:p.(Asn540=)	NC_000010.10:g.71142492C>T	(Likely) benign	1 lab	d4e25119a5
15:28326805 OCA2 G>C	15	28326805	28326805	G	C	OCA2	c.216C>G	NM_000275.3	NP_000266.2:p.(Leu72=)	NC_000015.9:g.28326805G>C	(Likely) benign	1 lab	d4e2bc17f5
2:179648476 TTN T>G	2	179648476	179648476	T	G	TTN	c.2812A>C	NM_133378.4	NP_596869.4:p.(Ile938Leu)	NC_000002.11:g.179648476T>G	VUS	1 lab	d4e355dfb0
12:173784 MISSING Ref too long to show for this DEL>A	12	173784	4011639	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.173786_4011639del	(Likely) pathogenic	1 lab	d4e505b121
15:45410031 DUOXA2 C>CA	15	45410031	45410032	C	CA	DUOXA2	c.888dup	NM_207581.4	NP_997464.2:p.(Pro297ThrfsTer23)	NC_000015.9:g.45410032dup	VUS	1 lab	d4ef0e91a5
2:133933170 NCKAP5 Ref too long to show for this DEL>T	2	133933170	134109683	Ref too long to show for this DEL	T	NCKAP5	c.70-49001_207+38117del	NM_207363.3	NP_997246.2:p.?	NC_000002.11:g.133933171_134109683del	VUS	1 lab	d4f1c4fbd9
2:21257692 APOB A>T	2	21257692	21257692	A	T	APOB	c.900T>A	NM_000384.3	NP_000375.3:p.(Gly300=)	NC_000002.11:g.21257692A>T	(Likely) benign	1 lab	d4f54fb26f
19:11240376 LDLR C>T	19	11240376	11240376	C	T	LDLR	c.2547+30C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240376C>T	(Likely) benign	1 lab	d4f593fc04
2:55914777 PNPT1 T>G	2	55914777	55914777	T	G	PNPT1	c.222+3A>C	NM_033109.5	NP_149100.2:p.?	NC_000002.11:g.55914777T>G	VUS	1 lab	d4f7576111
6:56346985 DST T>TCACACACACACACACACACACACACA	6	56346985	56347001	T	TCACACACACACACACACACACACACA	DST	c.15046-10_15046-9insTGTGTGTGTGTGTGTGTGTGTGTGTG	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56347000_56347001insACACACACACACACACACACACACAC	(Likely) benign	1 lab	d4f7887dd4
9:107555306 ABCA1 G>A	9	107555306	107555306	G	A	ABCA1	c.5637-119C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555306G>A	(Likely) benign	1 lab	d4f9f4c18b
4:20255553 SLIT2 G>A	4	20255553	20255553	G	A	SLIT2	c.115G>A	NM_004787.4	NP_004778.1:p.(Val39Met)	NC_000004.11:g.20255553G>A	VUS	1 lab	d4faa849c2
19:40902978 PRX G>A	19	40902978	40902978	G	A	PRX	c.1281C>T	NM_181882.3	NP_870998.2:p.(Ile427=)	NC_000019.9:g.40902978G>A	(Likely) benign	1 lab	d4fafaa717
15:44887531 SPG11 A>G	15	44887531	44887531	A	G	SPG11	c.4561T>C	NM_025137.4	NP_079413.3:p.(Ser1521Pro)	NC_000015.9:g.44887531A>G	VUS	1 lab	d4fb872a6c
9:137678010 COL5A1 C>T	9	137678010	137678010	C	T	COL5A1	c.2646+116C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137678010C>T	(Likely) benign	1 lab	d4fd02bc88
X:70443666 GJB1 G>A	X	70443666	70443666	G	A	GJB1	c.109G>A	NM_000166.6	NP_000157.1:p.(Val37Met)	NC_000023.10:g.70443666G>A	(Likely) pathogenic	1 lab	d50e37a8fd
2:21252844 APOB T>C	2	21252844	21252844	T	C	APOB	c.1396A>G	NM_000384.3	NP_000375.3:p.(Ile466Val)	NC_000002.11:g.21252844T>C	VUS	1 lab	d4fe13fbb2
8:19796714 LPL G>T	8	19796714	19796714	G	T	LPL				NC_000008.10:g.19796714G>T	(Likely) benign	1 lab	d4ff7293ac
8:6378728 ANGPT2 T>A	8	6378728	6378728	T	A	ANGPT2	c.770A>T	NM_001147.3	NP_001138.1:p.(Asn257Ile)	NC_000008.10:g.6378728T>A	(Likely) benign	1 lab	d501b5e842
12:432376 KDM5A C>CAAA	12	432376	432405	C	CAAA	KDM5A	c.2151-7_2151-5dup	NM_001042603.3	NP_001036068.1:p.?	NC_000012.11:g.432403_432405dup	(Likely) benign	1 lab	d508759349
1:203317162 FMOD C>T	1	203317162	203317162	C	T	FMOD	c.237G>A	NM_002023.5	NP_002014.2:p.(Glu79=)	NC_000001.10:g.203317162C>T	(Likely) benign	1 lab	d508a0f6f5
12:122261431 SETD1B G>A	12	122261431	122261431	G	A	SETD1B	c.4946G>A	NM_001353345.2	NP_001340274.1:p.(Arg1649His)	NC_000012.11:g.122261431G>A	(Likely) benign	1 lab	d50a49c745
2:179575870 TTN G>A	2	179575870	179575870	G	A	TTN	c.28093C>T	NM_001267550.2	NP_001254479.2:p.(Arg9365Trp)	NC_000002.11:g.179575870G>A	VUS	1 lab	d50cdfda00
2:26607825 SELENOI A>G	2	26607825	26607825	A	G	SELENOI	c.732-2A>G	NM_033505.4	NP_277040.1:p.?	NC_000002.11:g.26607825A>G	(Likely) pathogenic	1 lab	d50cf4172d
16:88800395 PIEZO1 CCTG>C	16	88800395	88800410	CCTG	C	PIEZO1	c.2245_2247del	NM_001142864.4	NP_001136336.2:p.(Gln749del)	NC_000016.9:g.88800408_88800410del	(Likely) benign	1 lab	d50e447b39
5:178580549 ADAMTS2 G>A	5	178580549	178580549	G	A	ADAMTS2	c.1458C>T	NM_014244.5	NP_055059.2:p.(Tyr486=)	NC_000005.9:g.178580549G>A	(Likely) benign	1 lab	d50fab6fb1
3:38651637 SCN5A G>C	3	38651637	38651637	G	C	SCN5A	c.704-182C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38651637G>C	(Likely) benign	1 lab	d510741bbc
11:10014580 SBF2 T>C	11	10014580	10014580	T	C	SBF2	c.1124A>G	NM_030962.4	NP_112224.1:p.(Gln375Arg)	NC_000011.9:g.10014580T>C	VUS	1 lab	d513b26dbf
1:177928037 SEC16B G>A	1	177928037	177928037	G	A	SEC16B	c.1072C>T	NM_033127.4	NP_149118.2:p.(Leu358=)	NC_000001.10:g.177928037G>A	(Likely) benign	1 lab	d513e3a20a
6:44227778 NFKBIE A>T	6	44227778	44227778	A	T	NFKBIE	c.1020+2T>A	NM_004556.3	NP_004547.3:p.?	NC_000006.11:g.44227778A>T	(Likely) pathogenic	1 lab	d513e6cd5a
19:53208493 ZNF611 G>C	19	53208493	53208493	G	C	ZNF611	c.1815C>G	NM_030972.3	NP_112234.3:p.(Arg605=)	NC_000019.9:g.53208493G>C	(Likely) benign	1 lab	d5158aa2cd
1:94476805 ABCA4 G>A	1	94476805	94476805	G	A	ABCA4	c.5584+13C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476805G>A	(Likely) benign	1 lab	d516a4b93c
5:149435843 CSF1R A>G	5	149435843	149435843	A	G	CSF1R	c.2381T>C	NM_005211.4	NP_005202.2:p.(Ile794Thr)	NC_000005.9:g.149435843A>G	(Likely) pathogenic	1 lab	d516e56f5e
8:133885383 TG G>A	8	133885383	133885383	G	A	TG	c.555G>A	NM_003235.5	NP_003226.4:p.(Ala185=)	NC_000008.10:g.133885383G>A	(Likely) benign	1 lab	d517ea9119
2:63380070 WDPCP C>T	2	63380070	63380070	C	T	WDPCP	c.2169G>A	NM_015910.7	NP_056994.3:p.(Leu723=)	NC_000002.11:g.63380070C>T	(Likely) benign	1 lab	d519693298
6:42689566 PRPH2 G>A	6	42689566	42689566	G	A	PRPH2	c.507C>T	NM_000322.5	NP_000313.2:p.(Asn169=)	NC_000006.11:g.42689566G>A	(Likely) benign	1 lab	d520145817
4:100502778 MTTP CA>C	4	100502778	100502787	CA	C	MTTP	c.62-275del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100502787del	(Likely) benign	1 lab	d520d2b1fc
2:45169577 SIX3 C>T	2	45169577	45169577	C	T	SIX3	c.334C>T	NM_005413.4	NP_005404.1:p.(Leu112Phe)	NC_000002.11:g.45169577C>T	(Likely) pathogenic	1 lab	d521d18d99
2:152531086 NEB G>T	2	152531086	152531086	G	T	NEB	c.3892C>A	NM_001271208.2	NP_001258137.2:p.(Arg1298=)	NC_000002.11:g.152531086G>T	(Likely) benign	1 lab	d5222061e7
1:1720703 GNB1 A>G	1	1720703	1720703	A	G	GNB1	c.705T>C	NM_002074.5	NP_002065.1:p.(Phe235=)	NC_000001.10:g.1720703A>G	(Likely) benign	1 lab	d52245db75
2:211527827 CPS1 G>GT	2	211527827	211527839	G	GT	CPS1	c.3928-8dup	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211527839dup	(Likely) benign	1 lab	d525ea545c
19:11240215 LDLR G>C	19	11240215	11240215	G	C	LDLR	c.2416G>C	NM_000527.5	NP_000518.1:p.(Val806Leu)	NC_000019.9:g.11240215G>C	VUS	1 lab	d526b3dfbd
10:55996665 PCDH15 C>T	10	55996665	55996665	C	T	PCDH15	c.903G>A	NM_001354429.2	NP_001341358.1:p.(Thr301=)	NC_000010.10:g.55996665C>T	(Likely) benign	1 lab	d527ae31e8
19:2116688 AP3D1 C>A	19	2116688	2116688	C	A	AP3D1	c.1917G>T	NM_001261826.3	NP_001248755.1:p.(Glu639Asp)	NC_000019.9:g.2116688C>A	VUS	1 lab	d52a27730f
10:75758153 VCL C>T	10	75758153	75758153	C	T	VCL	c.168+20C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75758153C>T	VUS	1 lab	d52a5154ce
16:89831414 FANCA C>G	16	89831414	89831414	C	G	FANCA	c.2662G>C	NM_000135.4	NP_000126.2:p.(Val888Leu)	NC_000016.9:g.89831414C>G	(Likely) benign	1 lab	d52dfe1eba
4:187434849 MISSING Ref too long to show for this DEL>A	4	187434849	187461644	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.187434850_187461644del	VUS	1 lab	d52ed29dbe
19:11224328 LDLR C>CAGAG	19	11224328	11224329	C	CAGAG	LDLR	c.1476_1477insAGAG	NM_000527.5	NP_000518.1:p.(Ser493ArgfsTer44)	NC_000019.9:g.11224328_11224329insAGAG	(Likely) pathogenic	1 lab	d537b63fc0
5:32725160 NPR3 C>G	5	32725160	32725160	C	G	NPR3	c.892+234C>G	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32725160C>G	(Likely) benign	1 lab	d537ebf0bf
3:51624505 RAD54L2 AGAG>A	3	51624505	51624527	AGAG	A	RAD54L2	c.89_91del	NM_015106.4	NP_055921.2:p.(Glu30del)	NC_000003.11:g.51624525_51624527del	(Likely) benign	1 lab	d538237198
16:920034 LMF1 T>C	16	920034	920034	T	C	LMF1	c.866A>G	NM_001352018.2	NP_001338947.1:p.(Gln289Arg)	NC_000016.9:g.920034T>C	VUS	1 lab	d5973b7bc2
15:85410433 ALPK3 G>A	15	85410433	85410433	G	A	ALPK3	c.4724-115G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410433G>A	(Likely) benign	1 lab	d5392b7624
16:88787056 PIEZO1 G>A	16	88787056	88787056	G	A	PIEZO1	c.5769C>T	NM_001142864.4	NP_001136336.2:p.(Ala1923=)	NC_000016.9:g.88787056G>A	(Likely) benign	1 lab	d53a863da9
12:125299564 SCARB1 G>A	12	125299564	125299564	G	A	SCARB1	c.381C>T	NM_005505.5	NP_005496.4:p.(His127=)	NC_000012.11:g.125299564G>A	(Likely) benign	1 lab	d53b1d4cea
3:53842983 CACNA1D C>T	3	53842983	53842983	C	T	CACNA1D	c.5931+186C>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53842983C>T	(Likely) benign	1 lab	d53da7814e
17:48653642 CACNA1G G>A	17	48653642	48653642	G	A	CACNA1G	c.1879G>A	NM_018896.5	NP_061496.2:p.(Gly627Arg)	NC_000017.10:g.48653642G>A	(Likely) benign	1 lab	d54025bf95
16:88504911 ZNF469 G>A	16	88504911	88504911	G	A	ZNF469	c.11033G>A	NM_001367624.2	NP_001354553.1:p.(Ser3678Asn)	NC_000016.9:g.88504911G>A	VUS	1 lab	d541181604
2:96955107 SNRNP200 A>T	2	96955107	96955107	A	T	SNRNP200	c.2951T>A	NM_014014.5	NP_054733.2:p.(Leu984Gln)	NC_000002.11:g.96955107A>T	VUS	1 lab	d5444c07a6
1:236881118 ACTN2 C>T	1	236881118	236881118	C	T	ACTN2	c.127-40C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236881118C>T	(Likely) benign	1 lab	d546e96102
1:27875706 AHDC1 T>C	1	27875706	27875706	T	C	AHDC1	c.2921A>G	NM_001029882.3	NP_001025053.1:p.(Tyr974Cys)	NC_000001.10:g.27875706T>C	VUS	1 lab	d54c924e16
19:49693531 TRPM4 G>A	19	49693531	49693531	G	A	TRPM4	c.2086G>A	NM_017636.4	NP_060106.2:p.(Ala696Thr)	NC_000019.9:g.49693531G>A	VUS	1 lab	d54cd2b6d2
16:10526949 MISSING Ref too long to show for this DEL>A	16	10526949	10586827	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.10526950_10586827del	VUS	1 lab	d55676d8b4
5:78325785 DMGDH G>A	5	78325785	78325785	G	A	DMGDH	c.1756C>T	NM_013391.3	NP_037523.2:p.(Gln586Ter)	NC_000005.9:g.78325785G>A	VUS	1 lab	d5592bacd3
2:157183211 NR4A2 TC>T	2	157183211	157183214	TC	T	NR4A2	c.1361+18del	NM_006186.4	NP_006177.1:p.?	NC_000002.11:g.157183214del	(Likely) benign	1 lab	d559c1cda9
5:177034406 B4GALT7 C>T	5	177034406	177034406	C	T	B4GALT7	c.517C>T	NM_007255.3	NP_009186.1:p.(Leu173=)	NC_000005.9:g.177034406C>T	(Likely) benign	1 lab	d55a08dc3d
12:2229609 CACNA1C T>C	12	2229609	2229609	T	C	CACNA1C	c.477+13T>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2229609T>C	(Likely) benign	1 lab	d55bb2b669
19:11224041 LDLR AC>A	19	11224041	11224043	AC	A	LDLR	c.1276del	NM_000527.5	NP_000518.1:p.(Leu426Ter)	NC_000019.9:g.11224043del	(Likely) pathogenic	1 lab	d55bb7d022
1:5947470 NPHP4 C>T	1	5947470	5947470	C	T	NPHP4	c.2361G>A	NM_015102.5	NP_055917.1:p.(Val787=)	NC_000001.10:g.5947470C>T	(Likely) benign	1 lab	d55d5c1126
9:109688783 ZNF462 C>T	9	109688783	109688783	C	T	ZNF462	c.2590C>T	NM_021224.6	NP_067047.4:p.(Arg864Ter)	NC_000009.11:g.109688783C>T	(Likely) pathogenic	1 lab	d55d9b586a
12:21392169 SLCO1B1 T>G	12	21392169	21392169	T	G	SLCO1B1	c.*46T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21392169T>G	(Likely) benign	1 lab	d55e222482
1:186088379 HMCN1 G>A	1	186088379	186088379	G	A	HMCN1	c.11905G>A	NM_031935.3	NP_114141.2:p.(Ala3969Thr)	NC_000001.10:g.186088379G>A	(Likely) benign	1 lab	d55ebd104c
4:123663940 BBS12 G>T	4	123663940	123663940	G	T	BBS12	c.893G>T	NM_001178007.2	NP_001171478.1:p.(Cys298Phe)	NC_000004.11:g.123663940G>T	(Likely) benign	1 lab	d55f83c2d6
15:72668313 HEXA T>A	15	72668313	72668313	T	A	HEXA				NC_000015.9:g.72668313T>A	(Likely) pathogenic	1 lab	d5603b413e
14:29236938 FOXG1 CG>C	14	29236938	29236945	CG	C	FOXG1	c.460del	NM_005249.5	NP_005240.3:p.(Glu154ArgfsTer38)	NC_000014.8:g.29236945del	(Likely) pathogenic	1 lab	d56613615e
6:32065023 TNXB C>T	6	32065023	32065023	C	T	TNXB	c.607G>A	NM_019105.8	NP_061978.6:p.(Val203Met)	NC_000006.11:g.32065023C>T	(Likely) benign	1 lab	d566159c7a
14:74970156 LTBP2 G>A	14	74970156	74970156	G	A	LTBP2	c.4720+16C>T	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74970156G>A	(Likely) benign	1 lab	d56b5928c5
1:986187 AGRN C>T	1	986187	986187	C	T	AGRN	c.4908C>T	NM_001364727.2	NP_001351656.1:p.(Gly1636=)	NC_000001.10:g.986187C>T	(Likely) benign	1 lab	d56f694059
6:123957870 TRDN T>C	6	123957870	123957870	T	C	TRDN	c.22+29A>G	NM_001256021.2	NP_001242950.1:p.?	NC_000006.11:g.123957870T>C	(Likely) pathogenic	1 lab	d570d5f9bf
X:18600043 CDKL5 A>C	X	18600043	18600043	A	C	CDKL5	c.436A>C	NM_003159.3	NP_003150.1:p.(Asn146His)	NC_000023.10:g.18600043A>C	VUS	1 lab	d57143101b
7:150647323 KCNH2 G>A	7	150647323	150647323	G	A	KCNH2	c.2331C>T	NM_000238.4	NP_000229.1:p.(Thr777=)	NC_000007.13:g.150647323G>A	(Likely) benign	1 lab	d571c0a8e4
19:55286867 KIR2DL1 C>T	19	55286867	55286867	C	T	KIR2DL1	c.621C>T	NM_014218.3	NP_055033.2:p.(Tyr207=)	NC_000019.9:g.55286867C>T	(Likely) benign	1 lab	d572145129
19:11217344 LDLR T>C	19	11217344	11217344	T	C	LDLR	c.798T>C	NM_000527.5	NP_000518.1:p.(Asp266=)	NC_000019.9:g.11217344T>C	(Likely) benign	1 lab	d5744ef3d5
15:48723000 FBN1 C>T	15	48723000	48723000	C	T	FBN1	c.6740-1G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48723000C>T	(Likely) pathogenic	1 lab	d578f0cbbe
3:53783426 CACNA1D G>A	3	53783426	53783426	G	A	CACNA1D	c.3446G>A	NM_001128840.3	NP_001122312.1:p.(Gly1149Asp)	NC_000003.11:g.53783426G>A	(Likely) pathogenic	1 lab	d57910d69d
5:112178125 APC G>A	5	112178125	112178125	G	A	APC	c.6834G>A	NM_000038.6	NP_000029.2:p.(Val2278=)	NC_000005.9:g.112178125G>A	(Likely) benign	1 lab	d5791fd2f7
3:38655050 SCN5A C>G	3	38655050	38655050	C	G	SCN5A	c.703+184G>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38655050C>G	(Likely) benign	1 lab	d57a7584c1
9:107583954 ABCA1 G>A	9	107583954	107583954	G	A	ABCA1	c.2829-167C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107583954G>A	(Likely) benign	1 lab	d57b0c9f7c
3:38592959 SCN5A C>A	3	38592959	38592959	C	A	SCN5A	c.4904G>T	NM_198056.3	NP_932173.1:p.(Arg1635Ile)	NC_000003.11:g.38592959C>A	VUS	1 lab	d57c05aec8
11:76829255 CAPN5 G>A	11	76829255	76829255	G	A	CAPN5	c.1024G>A	NM_004055.5	NP_004046.2:p.(Val342Met)	NC_000011.9:g.76829255G>A	VUS	1 lab	d57dbc1d36
17:15134232 MISSING C>Alt too long to show for this DUP	17	15134232	15466763	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.15134233_15466763dup	(Likely) pathogenic	1 lab	d5aaf750e2
6:107040028 RTN4IP1 C>T	6	107040028	107040028	C	T	RTN4IP1	c.806+11G>A	NM_032730.5	NP_116119.2:p.?	NC_000006.11:g.107040028C>T	(Likely) benign	1 lab	d57dd60ef0
8:19811006 LPL T>C	8	19811006	19811006	T	C	LPL	c.541+74T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811006T>C	(Likely) benign	1 lab	d58248c8bf
15:60741075 ICE2 C>T	15	60741075	60741075	C	T	ICE2	c.2091G>A	NM_024611.6	NP_078887.2:p.(Trp697Ter)	NC_000015.9:g.60741075C>T	VUS	1 lab	d5834ec541
22:50658233 TUBGCP6 C>G	22	50658233	50658233	C	G	TUBGCP6	c.4168-13G>C	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50658233C>G	(Likely) benign	1 lab	d584fdd215
6:112506430 LAMA4 C>CA	6	112506430	112506431	C	CA	LAMA4	c.1077+8dup	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112506431dup	(Likely) benign	1 lab	d5851984ea
7:128493885 FLNC A>T	7	128493885	128493885	A	T	FLNC	c.6478A>T	NM_001458.5	NP_001449.3:p.(Ile2160Phe)	NC_000007.13:g.128493885A>T	(Likely) pathogenic	1 lab	d58871c1c1
2:241710589 KIF1A G>A	2	241710589	241710589	G	A	KIF1A	c.1208-68C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241710589G>A	(Likely) benign	1 lab	d589eff1bf
2:152402515 NEB T>TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	2	152402515	152402533	T	TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NEB	c.20467-4_20467-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152402532_152402533insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(Likely) benign	1 lab	d58cf4dcfb
2:21235531 APOB A>G	2	21235531	21235531	A	G	APOB	c.4217-8T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235531A>G	(Likely) benign	1 lab	d592796674
16:30100529 TBX6 C>T	16	30100529	30100529	C	T	TBX6	c.356G>A	NM_004608.4	NP_004599.2:p.(Arg119His)	NC_000016.9:g.30100529C>T	(Likely) pathogenic	1 lab	d59522862a
22:29130575 CHEK2 C>T	22	29130575	29130575	C	T	CHEK2	c.135G>A	NM_007194.4	NP_009125.1:p.(Thr45=)	NC_000022.10:g.29130575C>T	(Likely) benign	1 lab	d596332a9e
2:241712031 KIF1A G>A	2	241712031	241712031	G	A	KIF1A	c.1181-18C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241712031G>A	(Likely) benign	1 lab	d59696419b
2:21232242 APOB A>G	2	21232242	21232242	A	G	APOB	c.7498T>C	NM_000384.3	NP_000375.3:p.(Leu2500=)	NC_000002.11:g.21232242A>G	(Likely) benign	1 lab	d596d69e4a
10:112572527 RBM20 G>A	10	112572527	112572527	G	A	RBM20	c.2372G>A	NM_001134363.3	NP_001127835.2:p.(Arg791Gln)	NC_000010.10:g.112572527G>A	VUS	1 lab	d597cfed58
2:179458907 TTN-AS1 CAAAAG>C	2	179458907	179458912	CAAAAG	C	TTN-AS1	n.3364+2867_3364+2871del	NR_038272.1		NC_000002.11:g.179458908_179458912del	(Likely) benign	1 lab	d59905ce0d
8:134025985 TG GC>G	8	134025985	134025987	GC	G	TG	c.6540del	NM_003235.5	NP_003226.4:p.(Thr2181ProfsTer69)	NC_000008.10:g.134025987del	(Likely) pathogenic	1 lab	d59cee34bf
2:1437377 TPO C>T	2	1437377	1437377	C	T	TPO	c.347C>T	NM_001206744.2	NP_001193673.1:p.(Thr116Met)	NC_000002.11:g.1437377C>T	VUS	1 lab	d5a51fd712
1:25890156 LDLRAP1 C>T	1	25890156	25890156	C	T	LDLRAP1	c.621C>T	NM_015627.3	NP_056442.2:p.(Val207=)	NC_000001.10:g.25890156C>T	(Likely) benign	1 lab	d5a55fa4b8
2:21230176 APOB A>T	2	21230176	21230176	A	T	APOB	c.9564T>A	NM_000384.3	NP_000375.3:p.(Asn3188Lys)	NC_000002.11:g.21230176A>T	VUS	1 lab	d5a6ad3076
2:16086143 MYCN T>C	2	16086143	16086143	T	C	MYCN	c.1319T>C	NM_001293228.2	NP_001280157.1:p.(Leu440Pro)	NC_000002.11:g.16086143T>C	(Likely) pathogenic	1 lab	d5a7d48457
11:62105546 ASRGL1 G>A	11	62105546	62105546	G	A	ASRGL1	c.97G>A	NM_001083926.2	NP_001077395.1:p.(Val33Met)	NC_000011.9:g.62105546G>A	(Likely) benign	1 lab	d5a88391ed
18:47093927 LIPG C>T	18	47093927	47093927	C	T	LIPG	c.395C>T	NM_006033.4	NP_006024.1:p.(Thr132Met)	NC_000018.9:g.47093927C>T	VUS	1 lab	d86768f753
14:105181204 INF2 G>A	14	105181204	105181204	G	A	INF2	c.3694+11G>A	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105181204G>A	(Likely) benign	1 lab	d5ac113fde
2:21229863 APOB G>A	2	21229863	21229863	G	A	APOB	c.9877C>T	NM_000384.3	NP_000375.3:p.(Pro3293Ser)	NC_000002.11:g.21229863G>A	(Likely) benign	1 lab	d5ad8dd807
10:294304 ZMYND11 G>A	10	294304	294304	G	A	ZMYND11	c.1256G>A	NM_001370102.2	NP_001357031.1:p.(Ser419Asn)	NC_000010.10:g.294304G>A	VUS	1 lab	d5af94be18
5:33982475 SLC45A2 C>T	5	33982475	33982475	C	T	SLC45A2	c.428G>A	NM_001012509.4	NP_001012527.2:p.(Ser143Asn)	NC_000005.9:g.33982475C>T	VUS	1 lab	d5afeddb57
1:216424318 USH2A G>A	1	216424318	216424318	G	A	USH2A	c.2094C>T	NM_206933.4	NP_996816.3:p.(Thr698=)	NC_000001.10:g.216424318G>A	(Likely) benign	1 lab	d5b12c28f0
15:40502378 BUB1B G>A	15	40502378	40502378	G	A	BUB1B	c.2352G>A	NM_001211.6	NP_001202.5:p.(Ala784=)	NC_000015.9:g.40502378G>A	(Likely) benign	1 lab	d5b1478e74
18:28654778 DSC2 G>T	18	28654778	28654778	G	T	DSC2	c.1759C>A	NM_004949.5	NP_004940.1:p.(Pro587Thr)	NC_000018.9:g.28654778G>T	(Likely) benign	1 lab	d5b28f3655
19:11216700 LDLR A>G	19	11216700	11216700	A	G	LDLR	c.694+424A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216700A>G	(Likely) benign	1 lab	d5b46dda29
7:128486482 FLNC G>C	7	128486482	128486482	G	C	FLNC	c.4092G>C	NM_001458.5	NP_001449.3:p.(Leu1364Phe)	NC_000007.13:g.128486482G>C	VUS	1 lab	d5b50460d3
19:48305634 TPRX1 A>G	19	48305634	48305634	A	G	TPRX1	c.634T>C	NM_198479.2	NP_940881.2:p.(Ser212Pro)	NC_000019.9:g.48305634A>G	(Likely) benign	1 lab	d5b6250572
16:1004957 LMF1 T>TA	16	1004957	1004958	T	TA	LMF1	c.-361-292_-361-291insT	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004957_1004958insA	VUS	1 lab	d5b84c3018
6:72967931 RIMS1 C>T	6	72967931	72967931	C	T	RIMS1	c.2874C>T	NM_014989.6	NP_055804.2:p.(Arg958=)	NC_000006.11:g.72967931C>T	(Likely) benign	1 lab	d5b86d7d68
3:38945560 SCN11A A>G	3	38945560	38945560	A	G	SCN11A	c.1638T>C	NM_014139.3	NP_054858.2:p.(Cys546=)	NC_000003.11:g.38945560A>G	(Likely) benign	1 lab	d5b9878b21
2:179615874 TTN T>C	2	179615874	179615874	T	C	TTN	c.11253A>G	NM_133379.5	NP_596870.2:p.(Arg3751=)	NC_000002.11:g.179615874T>C	(Likely) benign	1 lab	d5ba597102
5:175387846 MISSING Ref too long to show for this DEL>T	5	175387846	175477274	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.175387847_175477274del	VUS	1 lab	d5bb5b912c
2:179560811 TTN T>C	2	179560811	179560811	T	C	TTN	c.30988A>G	NM_001267550.2	NP_001254479.2:p.(Thr10330Ala)	NC_000002.11:g.179560811T>C	VUS	1 lab	d5bc21675a
12:50499463 GPD1 CTTA>C	12	50499463	50499469	CTTA	C	GPD1	c.356_358del	NM_005276.4	NP_005267.2:p.(Ile119del)	NC_000012.11:g.50499467_50499469del	VUS	1 lab	d5bd74437c
11:47361954 MYBPC3 G>A	11	47361954	47361954	G	A	MYBPC3	c.1927+600C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361954G>A	(Likely) pathogenic	1 lab	d5bdd641fe
17:2233869 TSR1 G>A	17	2233869	2233869	G	A	TSR1	c.1710C>T	NM_018128.5	NP_060598.3:p.(Val570=)	NC_000017.10:g.2233869G>A	(Likely) benign	1 lab	d5c1b0f28c
3:195515031 MUC4 G>A	3	195515031	195515031	G	A	MUC4	c.3420C>T	NM_018406.7	NP_060876.5:p.(Thr1140=)	NC_000003.11:g.195515031G>A	(Likely) benign	1 lab	d5c3213f37
5:90144621 ADGRV1 C>T	5	90144621	90144621	C	T	ADGRV1	c.17187C>T	NM_032119.4	NP_115495.3:p.(Cys5729=)	NC_000005.9:g.90144621C>T	(Likely) benign	1 lab	d5c60f52fe
17:7806372 CHD3 A>T	17	7806372	7806372	A	T	CHD3	c.3665A>T	NM_001005271.3	NP_001005271.2:p.(Asp1222Val)	NC_000017.10:g.7806372A>T	(Likely) pathogenic	1 lab	d5c663bba5
17:2490209 MISSING Ref too long to show for this DEL>A	17	2490209	2524885	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.2490211_2524885del	(Likely) pathogenic	1 lab	d5c81dff36
2:179448392 TTN C>T	2	179448392	179448392	C	T	TTN	c.57813G>A	NM_133378.4	NP_596869.4:p.(Ala19271=)	NC_000002.11:g.179448392C>T	(Likely) benign	1 lab	d5c84838af
2:236510901 AGAP1 Ref too long to show for this DEL>G	2	236510901	236620365	Ref too long to show for this DEL	G	AGAP1	c.164-106920_222+2484del	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236510903_236620365del	VUS	1 lab	d5ca4f1dea
15:89753681 RLBP1 G>C	15	89753681	89753681	G	C	RLBP1	c.796-7C>G	NM_000326.5	NP_000317.1:p.?	NC_000015.9:g.89753681G>C	(Likely) benign	1 lab	d5cb800b2d
12:91372042 EPYC GA>G	12	91372042	91372058	GA	G	EPYC	c.166-4del	NM_004950.5	NP_004941.2:p.?	NC_000012.11:g.91372058del	(Likely) benign	1 lab	d5cbc7b79e
16:29613742 MISSING Ref too long to show for this DEL>T	16	29613742	30178406	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29613743_30178406del	(Likely) pathogenic	1 lab	d5d1023b50
8:100523360 VPS13B A>G	8	100523360	100523360	A	G	VPS13B	c.4328A>G	NM_017890.5	NP_060360.3:p.(His1443Arg)	NC_000008.10:g.100523360A>G	VUS	1 lab	d5d402f2cf
17:34425362 MISSING C>Alt too long to show for this DUP	17	34425362	34470983	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.34425363_34470983dup	(Likely) benign	1 lab	d69a8f8d6b
2:220503589 SLC4A3 G>A	2	220503589	220503589	G	A	SLC4A3	c.3102G>A	NM_001326559.2	NP_001313488.2:p.(Thr1034=)	NC_000002.11:g.220503589G>A	(Likely) benign	1 lab	d5d6053a8f
11:47370479 MYBPC3 T>TATATATATATATATATA	11	47370479	47370480	T	TATATATATATATATATA	MYBPC3	c.655-388_655-387insTATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370479_47370480insATATATATATATATATA	(Likely) benign	1 lab	d5d69e8c4b
8:19813878 LPL A>C	8	19813878	19813878	A	C	LPL	c.1018+284A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813878A>C	(Likely) benign	1 lab	d5d7de53f0
18:29104748 DSG2 A>G	18	29104748	29104748	A	G	DSG2	c.911A>G	NM_001943.5	NP_001934.2:p.(Asp304Gly)	NC_000018.9:g.29104748A>G	VUS	1 lab	d5da4e7756
4:100534131 MTTP A>G	4	100534131	100534131	A	G	MTTP	c.2051A>G	NM_000253.4	NP_000244.2:p.(Glu684Gly)	NC_000004.11:g.100534131A>G	(Likely) pathogenic	1 lab	d5dce95f1e
2:211320041 LANCL1 G>GA	2	211320041	211320053	G	GA	LANCL1	c.200-4dup	NM_006055.3	NP_006046.1:p.?	NC_000002.11:g.211320053dup	(Likely) benign	1 lab	d5dd80d4c5
12:133250211 POLE C>T	12	133250211	133250211	C	T	POLE	c.1309G>A	NM_006231.4	NP_006222.2:p.(Val437Met)	NC_000012.11:g.133250211C>T	VUS	1 lab	d5de977ecb
3:154832831 MME A>C	3	154832831	154832831	A	C	MME	c.245A>C	NM_007288.3	NP_009219.2:p.(Asp82Ala)	NC_000003.11:g.154832831A>C	VUS	1 lab	d5dfccde43
6:33746021 LEMD2 CAGA>C	6	33746021	33746030	CAGA	C	LEMD2	c.1151_1153del	NM_181336.4	NP_851853.1:p.(Phe384del)	NC_000006.11:g.33746028_33746030del	VUS	1 lab	d5e206b1ec
16:46763051 MYLK3 G>A	16	46763051	46763051	G	A	MYLK3	c.1663-6C>T	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46763051G>A	(Likely) benign	1 lab	d5e2e8c97b
1:66096031 LEPR T>A	1	66096031	66096031	T	A	LEPR	c.2820T>A	NM_001198687.2	NP_001185616.1:p.(Pro940=)	NC_000001.10:g.66096031T>A	(Likely) benign	1 lab	d5e3e2b8c4
9:137702117 COL5A1 C>T	9	137702117	137702117	C	T	COL5A1	c.3491C>T	NM_000093.5	NP_000084.3:p.(Pro1164Leu)	NC_000009.11:g.137702117C>T	(Likely) benign	1 lab	d5e8b12627
13:101795500 NALCN G>A	13	101795500	101795500	G	A	NALCN	c.2049C>T	NM_001350748.2	NP_001337677.1:p.(Thr683=)	NC_000013.10:g.101795500G>A	(Likely) benign	1 lab	d5ee413877
2:21235442 APOB G>A	2	21235442	21235442	G	A	APOB	c.4298C>T	NM_000384.3	NP_000375.3:p.(Ser1433Leu)	NC_000002.11:g.21235442G>A	(Likely) benign	1 lab	d5ee8ce799
8:10468857 RP1L1 C>T	8	10468857	10468857	C	T	RP1L1	c.2751G>A	NM_178857.6	NP_849188.4:p.(Ala917=)	NC_000008.10:g.10468857C>T	(Likely) benign	1 lab	d5efb684a9
16:15811389 MYH11 C>T	16	15811389	15811389	C	T	MYH11	c.5296-184G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15811389C>T	(Likely) benign	1 lab	d5f088a239
11:61729922 BEST1 C>T	11	61729922	61729922	C	T	BEST1	c.324C>T	NM_001363593.2	NP_001350522.1:p.(Ala108=)	NC_000011.9:g.61729922C>T	VUS	1 lab	d5f31b879d
1:222711744 MISSING Ref too long to show for this DEL>G	1	222711744	222831113	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.222711746_222831113del	VUS	1 lab	d5f338cc3d
1:224621453 WDR26 GCTT>G	1	224621453	224621465	GCTT	G	WDR26	c.352_354del	NM_025160.7	NP_079436.4:p.(Lys118del)	NC_000001.10:g.224621463_224621465del	VUS	1 lab	d5f629be76
3:48602255 COL7A1 G>A	3	48602255	48602255	G	A	COL7A1	c.8779C>T	NM_000094.4	NP_000085.1:p.(Arg2927Cys)	NC_000003.11:g.48602255G>A	VUS	1 lab	d5f986e938
8:94767179 TMEM67 G>A	8	94767179	94767179	G	A	TMEM67	c.37G>A	NM_153704.6	NP_714915.3:p.(Val13Ile)	NC_000008.10:g.94767179G>A	VUS	1 lab	d90f2dc713
16:87960480 CA5A T>G	16	87960480	87960480	T	G	CA5A	c.214A>C	NM_001739.2	NP_001730.1:p.(Arg72=)	NC_000016.9:g.87960480T>G	(Likely) benign	1 lab	d5f9df16d8
X:153171417 AVPR2 Ref too long to show for this DEL>G	X	153171417	153171773	Ref too long to show for this DEL	G	AVPR2	c.460_813del	NM_000054.6	NP_000045.1:p.(Ala154_Arg271del)	NC_000023.10:g.153171420_153171773del	VUS	1 lab	d5fbef8613
20:10627577 JAG1 G>T	20	10627577	10627577	G	T	JAG1	c.1885+10C>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10627577G>T	(Likely) benign	1 lab	d5fc453ed3
8:19813097 LPL ACATACT>A	8	19813097	19813107	ACATACT	A	LPL	c.776-250_776-245del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813102_19813107del	(Likely) benign	1 lab	d5feefb4be
1:1167669 B3GALT6 T>TGCGGCGGGCGTGGCG	1	1167669	1167694	T	TGCGGCGGGCGTGGCG	B3GALT6	c.22_36dup	NM_080605.4	NP_542172.2:p.(Trp8_Ala12dup)	NC_000001.10:g.1167680_1167694dup	(Likely) benign	1 lab	d6007a9220
1:25890373 LDLRAP1 G>A	1	25890373	25890373	G	A	LDLRAP1	c.747+91G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890373G>A	(Likely) benign	1 lab	d600eaf21b
12:125270739 SCARB1 C>T	12	125270739	125270739	C	T	SCARB1	c.1565G>A	NM_001367981.1	NP_001354910.1:p.(Arg522His)	NC_000012.11:g.125270739C>T	VUS	1 lab	d603047e84
15:44914151 SPG11 A>AT	15	44914151	44914164	A	AT	SPG11	c.2445-20dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44914164dup	(Likely) benign	1 lab	d603646cb6
11:61197671 SDHAF2 T>C	11	61197671	61197671	T	C	SDHAF2	c.36+17T>C	NM_017841.4	NP_060311.1:p.?	NC_000011.9:g.61197671T>C	(Likely) benign	1 lab	d604d39914
2:44049982 ABCG5 G>T	2	44049982	44049982	G	T	ABCG5	c.1417C>A	NM_022436.3	NP_071881.1:p.(Pro473Thr)	NC_000002.11:g.44049982G>T	VUS	1 lab	d607c6aab0
8:144296993 GPIHBP1 G>A	8	144296993	144296993	G	A	GPIHBP1	c.287G>A	NM_178172.6	NP_835466.2:p.(Gly96Glu)	NC_000008.10:g.144296993G>A	VUS	1 lab	d608c8f9a5
12:23818423 SOX5 G>A	12	23818423	23818423	G	A	SOX5	c.847C>T	NM_152989.5	NP_694534.1:p.(Gln283Ter)	NC_000012.11:g.23818423G>A	(Likely) pathogenic	1 lab	d6097e5982
18:10801445 PIEZO2 G>C	18	10801445	10801445	G	C	PIEZO2	c.1201-19C>G	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10801445G>C	(Likely) benign	1 lab	d60dcfd43a
15:62243241 VPS13C C>CA	15	62243241	62243244	C	CA	VPS13C	c.4457-19dup	NM_001018088.3	NP_001018098.1:p.?	NC_000015.9:g.62243244dup	(Likely) benign	1 lab	d60f346e54
9:107593948 ABCA1 C>T	9	107593948	107593948	C	T	ABCA1	c.1670G>A	NM_005502.4	NP_005493.2:p.(Arg557Gln)	NC_000009.11:g.107593948C>T	VUS	1 lab	d60fbeea94
16:88666176 MISSING Ref too long to show for this DEL>C	16	88666176	89472627	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.88666177_89472627del	(Likely) pathogenic	1 lab	d60ff05ffa
2:179421617 TTN G>T	2	179421617	179421617	G	T	TTN	c.80560C>A	NM_133378.4	NP_596869.4:p.(Pro26854Thr)	NC_000002.11:g.179421617G>T	VUS	1 lab	d6105c7212
17:8380225 MYH10 G>A	17	8380225	8380225	G	A	MYH10	c.5848C>T	NM_001256012.3	NP_001242941.1:p.(Arg1950Cys)	NC_000017.10:g.8380225G>A	VUS	1 lab	d612d50869
2:169833075 ABCB11 A>G	2	169833075	169833075	A	G	ABCB11	c.1308+12T>C	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169833075A>G	(Likely) benign	1 lab	d614a461e4
3:170198538 SLC7A14 G>A	3	170198538	170198538	G	A	SLC7A14	c.1533C>T	NM_020949.3	NP_066000.2:p.(Tyr511=)	NC_000003.11:g.170198538G>A	(Likely) benign	1 lab	d61597d5e5
2:44055180 ABCG5 G>GC	2	44055180	44055186	G	GC	ABCG5	c.575dup	NM_022436.3	NP_071881.1:p.(Ile193HisfsTer5)	NC_000002.11:g.44055186dup	(Likely) pathogenic	1 lab	d61712334a
21:44477136 CBS G>A	21	44477136	44477136	G	A	CBS	c.1468-139C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44477136G>A	(Likely) benign	1 lab	d61f52c0c3
2:44052071 ABCG5 G>A	2	44052071	44052071	G	A	ABCG5	c.861C>T	NM_022436.3	NP_071881.1:p.(Cys287=)	NC_000002.11:g.44052071G>A	(Likely) benign	1 lab	d6212c2b47
19:11227645 LDLR G>A	19	11227645	11227645	G	A	LDLR	c.1816G>A	NM_000527.5	NP_000518.1:p.(Ala606Thr)	NC_000019.9:g.11227645G>A	VUS	1 lab	d6278e10d8
2:21237302 APOB G>T	2	21237302	21237302	G	T	APOB	c.3842+18C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237302G>T	(Likely) benign	1 lab	d62e7bb23f
11:66472452 SPTBN2 G>A	11	66472452	66472452	G	A	SPTBN2	c.2295C>T	NM_006946.4	NP_008877.2:p.(Asp765=)	NC_000011.9:g.66472452G>A	(Likely) benign	1 lab	d63206413b
1:168059866 GPR161 A>G	1	168059866	168059866	A	G	GPR161	c.1140T>C	NM_001349632.1	NP_001336561.1:p.(Gly380=)	NC_000001.10:g.168059866A>G	(Likely) benign	1 lab	d6325a2650
11:47371467 MYBPC3 C>T	11	47371467	47371467	C	T	MYBPC3	c.512G>A	NM_000256.3	NP_000247.2:p.(Ser171Asn)	NC_000011.9:g.47371467C>T	VUS	1 lab	d636f83b0d
3:14172338 TMEM43 C>T	3	14172338	14172338	C	T	TMEM43	c.179C>T	NM_024334.3	NP_077310.1:p.(Thr60Met)	NC_000003.11:g.14172338C>T	VUS	1 lab	d63ee88358
16:56996990 CETP G>C	16	56996990	56996990	G	C	CETP	c.187G>C	NM_000078.3	NP_000069.2:p.(Glu63Gln)	NC_000016.9:g.56996990G>C	VUS	1 lab	d640686d04
11:1016968 MUC6 T>G	11	1016968	1016968	T	G	MUC6	c.5833A>C	NM_005961.3	NP_005952.2:p.(Thr1945Pro)	NC_000011.9:g.1016968T>G	(Likely) benign	1 lab	d641f89afb
X:151893932 MISSING T>Alt too long to show for this DUP	X	151893932	151904054	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151893933_151904054dup	VUS	1 lab	d642769d89
15:67457415 SMAD3 T>TAGAG	15	67457415	67457420	T	TAGAG	SMAD3	c.391_394dup	NM_005902.4	NP_005893.1:p.(Thr132ArgfsTer35)	NC_000015.9:g.67457417_67457420dup	(Likely) pathogenic	1 lab	d6436075e3
2:189853034 COL3A1 A>G	2	189853034	189853034	A	G	COL3A1	c.582+174A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853034A>G	(Likely) benign	1 lab	d6472d2527
12:107254153 RIC8B GAC>G	12	107254153	107254158	GAC	G	RIC8B	c.1418_1419del	NM_018157.4	NP_060627.2:p.(Thr473ArgfsTer3)	NC_000012.11:g.107254157_107254158del	VUS	1 lab	d64ad1e86d
10:71158414 HK1 C>T	10	71158414	71158414	C	T	HK1	c.2403C>T	NM_033500.2	NP_277035.2:p.(Cys801=)	NC_000010.10:g.71158414C>T	(Likely) benign	1 lab	d64f193193
8:10469167 RP1L1 T>C	8	10469167	10469167	T	C	RP1L1	c.2441A>G	NM_178857.6	NP_849188.4:p.(Glu814Gly)	NC_000008.10:g.10469167T>C	(Likely) benign	1 lab	d64f320215
5:127624859 FBN2 T>C	5	127624859	127624859	T	C	FBN2	c.6597A>G	NM_001999.4	NP_001990.2:p.(Pro2199=)	NC_000005.9:g.127624859T>C	(Likely) benign	1 lab	d650e7bb2c
16:31202351 FUS C>T	16	31202351	31202351	C	T	FUS	c.1461C>T	NM_004960.4	NP_004951.1:p.(Arg487=)	NC_000016.9:g.31202351C>T	(Likely) benign	1 lab	d653b14198
14:76437988 TGFB3 A>G	14	76437988	76437988	A	G	TGFB3	c.426T>C	NM_003239.5	NP_003230.1:p.(Asn142=)	NC_000014.8:g.76437988A>G	(Likely) benign	1 lab	d6542b8e98
2:21237988 APOB T>C	2	21237988	21237988	T	C	APOB	c.3653A>G	NM_000384.3	NP_000375.3:p.(Gln1218Arg)	NC_000002.11:g.21237988T>C	VUS	1 lab	d654759663
16:46771832 MYLK3 C>A	16	46771832	46771832	C	A	MYLK3	c.792G>T	NM_182493.3	NP_872299.2:p.(Leu264Phe)	NC_000016.9:g.46771832C>A	VUS	1 lab	d6550b36e5
6:135752425 AHI1 G>A	6	135752425	135752425	G	A	AHI1	c.2294C>T	NM_001134831.2	NP_001128303.1:p.(Thr765Ile)	NC_000006.11:g.135752425G>A	(Likely) benign	1 lab	d659264640
6:152673257 SYNE1 T>C	6	152673257	152673257	T	C	SYNE1	c.11485A>G	NM_182961.4	NP_892006.3:p.(Thr3829Ala)	NC_000006.11:g.152673257T>C	(Likely) benign	1 lab	d65bfdadfa
15:43166309 MISSING C>Alt too long to show for this DUP	15	43166309	43262736	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.43166311_43262736dup	VUS	1 lab	d65ce5d4cc
18:29116179 DSG2 A>G	18	29116179	29116179	A	G	DSG2	c.1438A>G	NM_001943.5	NP_001934.2:p.(Thr480Ala)	NC_000018.9:g.29116179A>G	VUS	1 lab	d65fe88ff1
16:81396142 GAN A>T	16	81396142	81396142	A	T	GAN	c.1012A>T	NM_022041.4	NP_071324.1:p.(Lys338Ter)	NC_000016.9:g.81396142A>T	(Likely) pathogenic	1 lab	d663e796e5
11:47373412 MYBPC3 G>A	11	47373412	47373412	G	A	MYBPC3	c.26-356C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373412G>A	(Likely) benign	1 lab	d6671b094f
3:188578534 MISSING A>Alt too long to show for this DUP	3	188578534	189147453	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.188578540_189147453dup	VUS	1 lab	d667d94369
12:125298755 SCARB1 A>T	12	125298755	125298755	A	T	SCARB1	c.623T>A	NM_001367981.1	NP_001354910.1:p.(Phe208Tyr)	NC_000012.11:g.125298755A>T	VUS	1 lab	d668612b1c
9:139302015 ENTR1 T>TA	9	139302015	139302037	T	TA	ENTR1	c.403-3dup	NM_001039707.2	NP_001034796.1:p.?	NC_000009.11:g.139302037dup	(Likely) benign	1 lab	d66c9804c1
2:219677002 CYP27A1 A>T	2	219677002	219677002	A	T	CYP27A1	c.504A>T	NM_000784.4	NP_000775.1:p.(Pro168=)	NC_000002.11:g.219677002A>T	(Likely) benign	1 lab	d66cfef121
10:88466418 LDB3 A>G	10	88466418	88466418	A	G	LDB3	c.1027A>G	NM_007078.3	NP_009009.1:p.(Thr343Ala)	NC_000010.10:g.88466418A>G	VUS	1 lab	d66d9855dc
14:80669386 DIO2 G>A	14	80669386	80669386	G	A	DIO2	c.468C>T	NM_000793.6	NP_000784.3:p.(Phe156=)	NC_000014.8:g.80669386G>A	(Likely) benign	1 lab	d66e194889
12:117968793 KSR2 C>T	12	117968793	117968793	C	T	KSR2	c.1755G>A	NM_173598.6	NP_775869.4:p.(Pro585=)	NC_000012.11:g.117968793C>T	(Likely) benign	1 lab	d67161e637
1:94568551 ABCA4 G>A	1	94568551	94568551	G	A	ABCA4	c.570+20C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94568551G>A	(Likely) benign	1 lab	d6725d679d
X:55172675 VCF2 C>T	X	55172675	55172675	C	T	VCF2	c.187G>A	NM_001166703.2	NP_001160175.1:p.(Gly63Ser)	NC_000023.10:g.55172675C>T	(Likely) benign	1 lab	d6742df1ec
3:38620707 SCN5A G>A	3	38620707	38620707	G	A	SCN5A	c.3390+118C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38620707G>A	(Likely) benign	1 lab	d678021f70
10:55943300 PCDH15 T>C	10	55943300	55943300	T	C	PCDH15	c.1509A>G	NM_001142771.2	NP_001136243.1:p.(Gln503=)	NC_000010.10:g.55943300T>C	VUS	1 lab	d6783ff5f1
11:61724329 BEST1 G>A	11	61724329	61724329	G	A	BEST1	c.315G>A	NM_001139443.2	NP_001132915.1:p.(Pro105=)	NC_000011.9:g.61724329G>A	(Likely) benign	1 lab	d67840882f
2:819855 MISSING Ref too long to show for this DEL>T	2	819855	1076969	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.819857_1076969del	VUS	1 lab	d67841b17e
11:116661032 APOA5 G>A	11	116661032	116661032	G	A	APOA5	c.913C>T	NM_052968.5	NP_443200.2:p.(Gln305Ter)	NC_000011.9:g.116661032G>A	(Likely) pathogenic	1 lab	d6796ae569
7:150648728 KCNH2 A>G	7	150648728	150648728	A	G	KCNH2	c.1753T>C	NM_000238.4	NP_000229.1:p.(Trp585Arg)	NC_000007.13:g.150648728A>G	(Likely) pathogenic	1 lab	d67a551097
11:18313325 HPS5 C>T	11	18313325	18313325	C	T	HPS5	c.2104G>A	NM_181507.2	NP_852608.1:p.(Val702Ile)	NC_000011.9:g.18313325C>T	(Likely) benign	1 lab	d67aa167d2
12:48525177 PFKM G>A	12	48525177	48525177	G	A	PFKM	c.450+1G>A	NM_001166686.2	NP_001160158.1:p.?	NC_000012.11:g.48525177G>A	(Likely) pathogenic	1 lab	d680f2f4a3
10:94397049 KIF11 T>A	10	94397049	94397049	T	A	KIF11	c.1984T>A	NM_004523.4	NP_004514.2:p.(Leu662Met)	NC_000010.10:g.94397049T>A	(Likely) benign	1 lab	d6826f2194
18:34232823 FHOD3 TCTC>T	18	34232823	34232828	TCTC	T	FHOD3	c.1580_1582del	NM_001281740.3	NP_001268669.1:p.(Ser527del)	NC_000018.9:g.34232826_34232828del	(Likely) pathogenic	1 lab	d6830a594e
19:54633399 PRPF31 C>G	19	54633399	54633399	C	G	PRPF31	c.1374+654C>G	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54633399C>G	(Likely) pathogenic	1 lab	d685178bce
21:34050941 SYNJ1 TA>T	21	34050941	34050944	TA	T	SYNJ1	c.1627+13del	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34050944del	(Likely) benign	1 lab	d6868673f1
15:85399586 ALPK3 T>C	15	85399586	85399586	T	C	ALPK3	c.1654-37T>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85399586T>C	(Likely) benign	1 lab	d6898665e4
17:75448240 MISSING C>Alt too long to show for this DUP	17	75448240	75559258	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.75448241_75559258dup	VUS	1 lab	d68e190dde
7:72612041 MISSING Ref too long to show for this DEL>T	7	72612041	74356772	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72612043_74356772del	(Likely) pathogenic	1 lab	d6930e8947
12:88474130 CEP290 C>T	12	88474130	88474130	C	T	CEP290	c.5055G>A	NM_025114.4	NP_079390.3:p.(Ala1685=)	NC_000012.11:g.88474130C>T	(Likely) benign	1 lab	d696e300c4
15:51874032 MISSING A>Alt too long to show for this DUP	15	51874032	51956697	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.51874034_51956697dup	VUS	1 lab	d697be39b3
11:116707092 APOA1 G>A	11	116707092	116707092	G	A	APOA1	c.236C>T	NM_000039.3	NP_000030.1:p.(Ser79Phe)	NC_000011.9:g.116707092G>A	VUS	1 lab	d6986e2da8
5:121412569 LOX C>G	5	121412569	121412569	C	G	LOX	c.740+19G>C	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121412569C>G	(Likely) benign	1 lab	d69bd0d6ad
15:58855849 LIPC T>A	15	58855849	58855849	T	A	LIPC	c.1315T>A	NM_000236.3	NP_000227.2:p.(Trp439Arg)	NC_000015.9:g.58855849T>A	VUS	1 lab	d6b1b30199
11:47356942 MYBPC3 G>A	11	47356942	47356942	G	A	MYBPC3	c.2738-182C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356942G>A	(Likely) benign	1 lab	d69ceb734b
1:156846274 NTRK1 T>G	1	156846274	156846274	T	G	NTRK1	c.1715T>G	NM_002529.4	NP_002520.2:p.(Ile572Ser)	NC_000001.10:g.156846274T>G	(Likely) pathogenic	1 lab	d69da6f265
6:119136196 MCM9 G>A	6	119136196	119136196	G	A	MCM9	c.3223C>T	NM_017696.3	NP_060166.2:p.(Pro1075Ser)	NC_000006.11:g.119136196G>A	(Likely) benign	1 lab	d69ef03109
10:121436791 BAG3 G>A	10	121436791	121436791	G	A	BAG3	c.1725G>A	NM_004281.4	NP_004272.2:p.(Pro575=)	NC_000010.10:g.121436791G>A	(Likely) benign	1 lab	d69f797a6c
5:149301194 PDE6A G>A	5	149301194	149301194	G	A	PDE6A	c.933+4C>T	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149301194G>A	(Likely) benign	1 lab	d6a3f7e29c
2:203329694 BMPR2 T>TA	2	203329694	203329698	T	TA	BMPR2	c.243dup	NM_001204.7	NP_001195.2:p.(Gln82ThrfsTer16)	NC_000002.11:g.203329698dup	(Likely) pathogenic	1 lab	d6a64f7a32
X:55172680 VCF2 G>C	X	55172680	55172680	G	C	VCF2	c.182C>G	NM_001166703.2	NP_001160175.1:p.(Pro61Arg)	NC_000023.10:g.55172680G>C	(Likely) benign	1 lab	d6a8b95c53
11:121466431 SORL1 G>A	11	121466431	121466431	G	A	SORL1	c.4469G>A	NM_003105.6	NP_003096.2:p.(Arg1490His)	NC_000011.9:g.121466431G>A	(Likely) benign	1 lab	d6aa2c8484
2:241685172 KIF1A G>A	2	241685172	241685172	G	A	KIF1A	c.3357C>T	NM_001244008.2	NP_001230937.1:p.(Asp1119=)	NC_000002.11:g.241685172G>A	VUS	1 lab	d6aafb9145
X:154194265 F8 C>T	X	154194265	154194265	C	T	F8	c.1423G>A	NM_000132.4	NP_000123.1:p.(Glu475Lys)	NC_000023.10:g.154194265C>T	(Likely) pathogenic	1 lab	d6b20cd750
17:6589622 SLC13A5 G>A	17	6589622	6589622	G	A	SLC13A5	c.1611C>T	NM_177550.5	NP_808218.1:p.(Val537=)	NC_000017.10:g.6589622G>A	(Likely) benign	1 lab	d6b2a89535
11:57076384 TNKS1BP1 C>T	11	57076384	57076384	C	T	TNKS1BP1	c.3801G>A	NM_033396.3	NP_203754.2:p.(Glu1267=)	NC_000011.9:g.57076384C>T	(Likely) benign	1 lab	d6b6f8f171
4:39233460 WDR19 G>T	4	39233460	39233460	G	T	WDR19	c.2026G>T	NM_025132.4	NP_079408.3:p.(Ala676Ser)	NC_000004.11:g.39233460G>T	(Likely) benign	1 lab	d6b954e540
9:133747772 ABL1 G>A	9	133747772	133747772	G	A	ABL1	c.907+172G>A	NM_005157.6	NP_005148.2:p.?	NC_000009.11:g.133747772G>A	(Likely) benign	1 lab	d6b970be09
2:179427237 TTN A>C	2	179427237	179427237	A	C	TTN	c.83622T>G	NM_001267550.2	NP_001254479.2:p.(Asp27874Glu)	NC_000002.11:g.179427237A>C	VUS	1 lab	d6bb3cf680
2:114004376 PAX8 C>T	2	114004376	114004376	C	T	PAX8	c.146G>A	NM_003466.4	NP_003457.1:p.(Arg49His)	NC_000002.11:g.114004376C>T	VUS	1 lab	d6bbc5ea77
9:137619131 COL5A1 T>C	9	137619131	137619131	T	C	COL5A1	c.674T>C	NM_000093.5	NP_000084.3:p.(Leu225Pro)	NC_000009.11:g.137619131T>C	VUS	1 lab	d6bc180ce6
15:85405905 ALPK3 A>C	15	85405905	85405905	A	C	ALPK3	c.4169A>C	NM_020778.5	NP_065829.4:p.(Lys1390Thr)	NC_000015.9:g.85405905A>C	VUS	1 lab	d6c018027c
12:49691072 PRPH C>T	12	49691072	49691072	C	T	PRPH	c.996+16C>T	NM_006262.4	NP_006253.2:p.?	NC_000012.11:g.49691072C>T	(Likely) benign	1 lab	d6c171255d
X:154003527 DKC1 C>T	X	154003527	154003527	C	T	DKC1	c.1317C>T	NM_001363.5	NP_001354.1:p.(Ala439=)	NC_000023.10:g.154003527C>T	(Likely) benign	1 lab	d6c29dcc6a
19:11224410 LDLR A>G	19	11224410	11224410	A	G	LDLR	c.1558A>G	NM_000527.5	NP_000518.1:p.(Arg520Gly)	NC_000019.9:g.11224410A>G	(Likely) pathogenic	1 lab	d6c2cf277d
1:767857 MISSING Ref too long to show for this DEL>G	1	767857	1065322	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.767858_1065322del	VUS	1 lab	d6c444e7f1
15:85400334 ALPK3 A>T	15	85400334	85400334	A	T	ALPK3	c.2365A>T	NM_020778.5	NP_065829.4:p.(Thr789Ser)	NC_000015.9:g.85400334A>T	VUS	1 lab	d6c5c760a6
1:40767496 COL9A2 G>A	1	40767496	40767496	G	A	COL9A2	c.1858C>T	NM_001852.4	NP_001843.1:p.(Pro620Ser)	NC_000001.10:g.40767496G>A	VUS	1 lab	d6c8578f99
11:1016972 MUC6 GGTGT>G	11	1016972	1016978	GGTGT	G	MUC6	c.5825_5828del	NM_005961.3	NP_005952.2:p.(His1942ProfsTer42)	NC_000011.9:g.1016975_1016978del	(Likely) benign	1 lab	d6c9c13194
1:180240510 LHX4 T>C	1	180240510	180240510	T	C	LHX4	c.452-5T>C	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180240510T>C	(Likely) benign	1 lab	d6cac22d39
5:168230155 MISSING Ref too long to show for this DEL>A	5	168230155	172077662	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.168230156_172077662del	(Likely) pathogenic	1 lab	d6cf3cf234
2:113045978 MISSING G>Alt too long to show for this DUP	2	113045978	113656935	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.113045979_113656935dup	VUS	1 lab	d6cfb7f945
2:21226220 APOB A>G	2	21226220	21226220	A	G	APOB	c.12088-14T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226220A>G	(Likely) benign	1 lab	d6d35cd7c3
X:40526258 MISSING G>Alt too long to show for this DUP	X	40526258	40973521	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.40526263_40973521dup	VUS	1 lab	d6d712c5ef
7:128478030 FLNC C>T	7	128478030	128478030	C	T	FLNC	c.970-11C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478030C>T	(Likely) benign	1 lab	d6d7c8361b
14:45645253 FANCM G>A	14	45645253	45645253	G	A	FANCM	c.3296G>A	NM_020937.4	NP_065988.1:p.(Arg1099His)	NC_000014.8:g.45645253G>A	(Likely) benign	1 lab	d6d8041597
19:39051780 RYR1 G>A	19	39051780	39051780	G	A	RYR1	c.12310G>A	NM_000540.3	NP_000531.2:p.(Gly4104Ser)	NC_000019.9:g.39051780G>A	VUS	1 lab	d6d830a290
6:137191152 PEX7 A>T	6	137191152	137191152	A	T	PEX7	c.747+11A>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137191152A>T	(Likely) benign	1 lab	d6d92c3266
11:66332134 CTSF G>A	11	66332134	66332134	G	A	CTSF	c.1231-15C>T	NM_003793.4	NP_003784.2:p.?	NC_000011.9:g.66332134G>A	(Likely) benign	1 lab	d6db535081
19:8197865 FBN3 C>T	19	8197865	8197865	C	T	FBN3	c.1714+3G>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8197865C>T	(Likely) benign	1 lab	d6dc2cf434
17:58233976 CA4 C>T	17	58233976	58233976	C	T	CA4	c.168C>T	NM_000717.5	NP_000708.1:p.(Ile56=)	NC_000017.10:g.58233976C>T	(Likely) benign	1 lab	d6dc5f02f9
4:100513027 MTTP TTG>T	4	100513027	100513045	TTG	T	MTTP	c.758+97_758+98del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100513044_100513045del	(Likely) benign	1 lab	d6de278c3b
19:11226768 LDLR A>C	19	11226768	11226768	A	C	LDLR	c.1587-2A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226768A>C	(Likely) pathogenic	1 lab	d6e31d8b7c
12:21353607 SLCO1B1 G>A	12	21353607	21353607	G	A	SLCO1B1	c.1135+1G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353607G>A	(Likely) benign	1 lab	d6e4593b42
2:74777472 LOXL3 C>A	2	74777472	74777472	C	A	LOXL3	c.317G>T	NM_032603.5	NP_115992.1:p.(Arg106Leu)	NC_000002.11:g.74777472C>A	(Likely) benign	1 lab	d6e9bf9e86
7:100855100 PLOD3 C>T	7	100855100	100855100	C	T	PLOD3	c.1232+27G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855100C>T	(Likely) benign	1 lab	d6ea30480a
2:44065084 ABCG5 T>C	2	44065084	44065084	T	C	ABCG5	c.154A>G	NM_022436.3	NP_071881.1:p.(Arg52Gly)	NC_000002.11:g.44065084T>C	VUS	1 lab	d6eb6e4da8
10:52913013 PRKG1 T>C	10	52913013	52913013	T	C	PRKG1	c.356T>C	NM_001098512.3	NP_001091982.1:p.(Met119Thr)	NC_000010.10:g.52913013T>C	VUS	1 lab	d6ee836dc0
10:71119633 HK1 C>T	10	71119633	71119633	C	T	HK1	c.332-20C>T	NM_001322365.2	NP_001309294.1:p.?	NC_000010.10:g.71119633C>T	(Likely) benign	1 lab	d6f1e2f61d
8:59404080 CYP7A1 G>C	8	59404080	59404080	G	C	CYP7A1	c.1469C>G	NM_000780.4	NP_000771.2:p.(Pro490Arg)	NC_000008.10:g.59404080G>C	VUS	1 lab	d6f81a2ba5
4:165880957 MISSING Ref too long to show for this DEL>C	4	165880957	165934294	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.165880958_165934294del	VUS	1 lab	d6fac570c6
15:85383239 ALPK3 G>A	15	85383239	85383239	G	A	ALPK3	c.729G>A	NM_020778.5	NP_065829.4:p.(Glu243=)	NC_000015.9:g.85383239G>A	(Likely) benign	1 lab	d6fbd69152
7:40085584 CDK13 C>T	7	40085584	40085584	C	T	CDK13	c.2503C>T	NM_003718.5	NP_003709.3:p.(His835Tyr)	NC_000007.13:g.40085584C>T	(Likely) pathogenic	1 lab	d6febe5c8b
8:19806180 LPL G>A	8	19806180	19806180	G	A	LPL	c.249+329G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19806180G>A	(Likely) benign	1 lab	d70009dc45
2:189866927 COL3A1 T>G	2	189866927	189866927	T	G	COL3A1	c.2392-97T>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866927T>G	(Likely) benign	1 lab	d7002113ff
11:47354027 MYBPC3 G>A	11	47354027	47354027	G	A	MYBPC3	c.3627+90C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354027G>A	(Likely) benign	1 lab	d7070c0155
10:89623708 PTEN T>A	10	89623708	89623708	T	A	PTEN	c.-519T>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623708T>A	(Likely) benign	1 lab	d7071b3002
16:15880586 MYH11 G>A	16	15880586	15880586	G	A	MYH11	c.534C>T	NM_001040113.2	NP_001035202.1:p.(Gly178=)	NC_000016.9:g.15880586G>A	(Likely) benign	1 lab	d70985b7cb
10:71048539 HK1 G>GTTTC	10	71048539	71048558	G	GTTTC	HK1	c.27+29_27+32dup	NM_001358263.1	NP_001345192.1:p.?	NC_000010.10:g.71048555_71048558dup	(Likely) benign	1 lab	d70a34e50f
11:47360345 MYBPC3 A>C	11	47360345	47360345	A	C	MYBPC3	c.2149-115T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360345A>C	(Likely) benign	1 lab	d710bdbf2e
9:101900356 TGFBR1 G>A	9	101900356	101900356	G	A	TGFBR1	c.790G>A	NM_004612.4	NP_004603.1:p.(Ala264Thr)	NC_000009.11:g.101900356G>A	VUS	1 lab	d713a6e64d
7:91632530 AKAP9 A>G	7	91632530	91632530	A	G	AKAP9	c.3299A>G	NM_005751.5	NP_005742.4:p.(Asn1100Ser)	NC_000007.13:g.91632530A>G	(Likely) benign	1 lab	d71b7341d9
13:111729980 MISSING Ref too long to show for this DEL>T	13	111729980	111792482	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.111729985_111792482del	VUS	1 lab	d71e0e08c7
6:32052290 TNXB G>A	6	32052290	32052290	G	A	TNXB	c.3345C>T	NM_019105.8	NP_061978.6:p.(Ala1115=)	NC_000006.11:g.32052290G>A	(Likely) benign	1 lab	d723d482de
X:79991590 BRWD3 T>TA	X	79991590	79991603	T	TA	BRWD3	c.814-4dup	NM_153252.5	NP_694984.5:p.?	NC_000023.10:g.79991603dup	(Likely) benign	1 lab	d726feecc2
6:32063896 TNXB G>A	6	32063896	32063896	G	A	TNXB	c.1734C>T	NM_019105.8	NP_061978.6:p.(Asp578=)	NC_000006.11:g.32063896G>A	(Likely) benign	1 lab	d7280038d9
19:11200008 LDLR C>T	19	11200008	11200008	C	T	LDLR				NC_000019.9:g.11200008C>T	(Likely) benign	1 lab	d7a99bf5a4
14:23790680 PABPN1 TGGC>T	14	23790680	23790701	TGGC	T	PABPN1	c.21_23del	NM_004643.4	NP_004634.1:p.(Ala11del)	NC_000014.8:g.23790699_23790701del	(Likely) benign	1 lab	d7294d2f63
X:16844730 MISSING T>Alt too long to show for this DUP	X	16844730	17216078	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.16844732_17216078dup	VUS	1 lab	d72a0e1427
3:57913071 SLMAP G>A	3	57913071	57913071	G	A	SLMAP	c.2443G>A	NM_001304420.3	NP_001291349.1:p.(Ala815Thr)	NC_000003.11:g.57913071G>A	(Likely) benign	1 lab	d72b583567
16:29615968 MISSING G>Alt too long to show for this DUP	16	29615968	30177916	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29615970_30177916dup	(Likely) pathogenic	1 lab	d72e710754
3:123376290 MYLK G>T	3	123376290	123376290	G	T	MYLK	c.3986-15C>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123376290G>T	(Likely) benign	1 lab	d7659e8bd0
4:29315536 MISSING Ref too long to show for this DEL>A	4	29315536	31375954	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.29315538_31375954del	VUS	1 lab	d72fee28f9
15:101550861 LRRK1 CT>C	15	101550861	101550876	CT	C	LRRK1	c.1118-3del	NM_024652.6	NP_078928.3:p.?	NC_000015.9:g.101550876del	(Likely) benign	1 lab	d7360a8993
22:49001966 MISSING C>Alt too long to show for this DUP	22	49001966	49287592	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.49001968_49287592dup	VUS	1 lab	d736174c72
5:121405747 LOX C>T	5	121405747	121405747	C	T	LOX	c.1247+1G>A	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121405747C>T	VUS	1 lab	d739c7ab39
5:133944043 SAR1B ATT>A	5	133944043	133944059	ATT	A	SAR1B	c.480+17_480+18del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944058_133944059del	(Likely) benign	1 lab	d73de50d8c
15:22770418 MISSING A>Alt too long to show for this DUP	15	22770418	23209531	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23209531dup	(Likely) pathogenic	1 lab	d74088e23f
12:114810190 TBX5 Ref too long to show for this DEL>A	12	114810190	114830642	Ref too long to show for this DEL	A	TBX5	c.663+1907_756-5995del	NM_181486.4	NP_852259.1:p.?	NC_000012.11:g.114810194_114830642del	(Likely) pathogenic	1 lab	d7418eb03b
6:39874376 MOCS1 G>A	6	39874376	39874376	G	A	MOCS1	c.1668C>T	NM_001358530.2	NP_001345459.1:p.(His556=)	NC_000006.11:g.39874376G>A	(Likely) benign	1 lab	d74236d45f
14:64457109 SYNE2 A>G	14	64457109	64457109	A	G	SYNE2	c.2314-20A>G	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64457109A>G	(Likely) benign	1 lab	d7461ee8a8
1:151384773 POGZ TG>T	1	151384773	151384775	TG	T	POGZ	c.1777del	NM_015100.4	NP_055915.2:p.(Gln593ArgfsTer13)	NC_000001.10:g.151384775del	(Likely) pathogenic	1 lab	d74a6210b0
14:23887463 MYH7 A>T	14	23887463	23887463	A	T	MYH7	c.4125T>A	NM_000257.4	NP_000248.2:p.(Tyr1375Ter)	NC_000014.8:g.23887463A>T	(Likely) pathogenic	1 lab	d74c0b3401
5:127686610 FBN2 C>T	5	127686610	127686610	C	T	FBN2	c.2762G>A	NM_001999.4	NP_001990.2:p.(Cys921Tyr)	NC_000005.9:g.127686610C>T	(Likely) pathogenic	1 lab	d74f9e2f21
19:11218199 LDLR C>T	19	11218199	11218199	C	T	LDLR	c.940+9C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218199C>T	(Likely) benign	1 lab	d75466df97
8:48465344 MISSING T>Alt too long to show for this DUP	8	48465344	49222510	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.48465346_49222510dup	VUS	1 lab	d75649d88a
11:71943960 INPPL1 C>A	11	71943960	71943960	C	A	INPPL1	c.1893C>A	NM_001567.4	NP_001558.3:p.(Leu631=)	NC_000011.9:g.71943960C>A	(Likely) benign	1 lab	d757e8014b
7:30671071 GARS1 G>A	7	30671071	30671071	G	A	GARS1	c.1817G>A	NM_002047.4	NP_002038.2:p.(Ser606Asn)	NC_000007.13:g.30671071G>A	VUS	1 lab	d757e83361
15:31339376 TRPM1 G>A	15	31339376	31339376	G	A	TRPM1	c.1753C>T	NM_001252020.2	NP_001238949.1:p.(Arg585Cys)	NC_000015.9:g.31339376G>A	VUS	1 lab	d75874b020
12:987448 WNK1 C>G	12	987448	987448	C	G	WNK1	c.3533C>G	NM_001184985.2	NP_001171914.1:p.(Ser1178Cys)	NC_000012.11:g.987448C>G	VUS	1 lab	d75907cfbe
16:15849947 MYH11 C>G	16	15849947	15849947	C	G	MYH11	c.1749+251G>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15849947C>G	(Likely) benign	1 lab	d75b7b10d7
12:124267638 DNAH10 A>G	12	124267638	124267638	A	G	DNAH10	c.659-16A>G	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124267638A>G	(Likely) benign	1 lab	d7617f0d13
5:38493802 LIFR G>A	5	38493802	38493802	G	A	LIFR	c.1971C>T	NM_001127671.2	NP_001121143.1:p.(Tyr657=)	NC_000005.9:g.38493802G>A	(Likely) benign	1 lab	d767dcaac3
1:146506903 MISSING T>Alt too long to show for this DUP	1	146506903	147385643	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.146506906_147385643dup	(Likely) pathogenic	1 lab	d7684a668c
16:17292609 XYLT1 A>G	16	17292609	17292609	A	G	XYLT1	c.1087-338T>C	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17292609A>G	(Likely) benign	1 lab	d76d0d0211
18:77477971 CTDP1 C>T	18	77477971	77477971	C	T	CTDP1	c.2372C>T	NM_048368.4	NP_430255.2:p.(Ala791Val)	NC_000018.9:g.77477971C>T	VUS	1 lab	d76e1709f3
13:32910700 BRCA2 A>G	13	32910700	32910700	A	G	BRCA2	c.2208A>G	NM_000059.4	NP_000050.3:p.(Ala736=)	NC_000013.10:g.32910700A>G	(Likely) benign	1 lab	d770c6db8d
2:44053544 ABCG5 G>A	2	44053544	44053544	G	A	ABCG5	c.751C>T	NM_022436.3	NP_071881.1:p.(Gln251Ter)	NC_000002.11:g.44053544G>A	(Likely) pathogenic	1 lab	d77595dded
X:49069253 CACNA1F G>T	X	49069253	49069253	G	T	CACNA1F	c.3849C>A	NM_005183.4	NP_005174.2:p.(Ser1283Arg)	NC_000023.10:g.49069253G>T	VUS	1 lab	d77a8eda19
21:47666700 MCM3AP A>G	21	47666700	47666700	A	G	MCM3AP	c.4391T>C	NM_003906.5	NP_003897.2:p.(Met1464Thr)	NC_000021.8:g.47666700A>G	VUS	1 lab	d77c782dc1
11:85346740 MISSING A>Alt too long to show for this DUP	11	85346740	85374775	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.85346745_85374775dup	VUS	1 lab	d7f65bd51e
12:78400867 NAV3 A>G	12	78400867	78400867	A	G	NAV3	c.1549A>G	NM_001024383.2	NP_001019554.1:p.(Lys517Glu)	NC_000012.11:g.78400867A>G	VUS	1 lab	d781220327
9:87636196 NTRK2 C>A	9	87636196	87636196	C	A	NTRK2	c.2361C>A	NM_006180.6	NP_006171.2:p.(Val787=)	NC_000009.11:g.87636196C>A	(Likely) benign	1 lab	d782a81b28
5:147807361 FBXO38 ATGGGAG>A	5	147807361	147807370	ATGGGAG	A	FBXO38	c.2508_2513del	NM_205836.3	NP_995308.1:p.(Ser839_Gly840del)	NC_000005.9:g.147807365_147807370del	(Likely) benign	1 lab	d78424532b
6:112537612 LAMA4 T>C	6	112537612	112537612	T	C	LAMA4	c.254A>G	NM_001105206.3	NP_001098676.2:p.(Asn85Ser)	NC_000006.11:g.112537612T>C	(Likely) benign	1 lab	d78649b377
12:2764324 CACNA1C A>G	12	2764324	2764324	A	G	CACNA1C	c.4296A>G	NM_199460.4	NP_955630.3:p.(Lys1432=)	NC_000012.11:g.2764324A>G	(Likely) benign	1 lab	d786c5d6b2
15:34529023 SLC12A6 T>C	15	34529023	34529023	T	C	SLC12A6	c.2908-7A>G	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34529023T>C	(Likely) benign	1 lab	d7896c942f
16:15254254 MISSING Ref too long to show for this DEL>C	16	15254254	18426776	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.15254255_18426776del	(Likely) pathogenic	1 lab	d791c6932d
22:36659232 MISSING Ref too long to show for this DEL>A	22	36659232	36761448	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.36659235_36761448del	VUS	1 lab	d79311dfed
5:36536426 MISSING G>Alt too long to show for this DUP	5	36536426	36716586	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.36536429_36716586dup	VUS	1 lab	d7937b3bd2
11:47353606 MYBPC3 C>CG	11	47353606	47353607	C	CG	MYBPC3	c.3814+16_3814+17insC	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353606_47353607insG	(Likely) benign	1 lab	d793fb88cb
6:75847306 COL12A1 A>G	6	75847306	75847306	A	G	COL12A1	c.5252-11T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75847306A>G	(Likely) benign	1 lab	d79791cc97
12:57422645 MYO1A T>G	12	57422645	57422645	T	G	MYO1A	c.3026A>C	NM_001256041.2	NP_001242970.1:p.(Glu1009Ala)	NC_000012.11:g.57422645T>G	(Likely) benign	1 lab	d799978cdf
19:49684671 TRPM4 G>A	19	49684671	49684671	G	A	TRPM4	c.1216G>A	NM_017636.4	NP_060106.2:p.(Val406Met)	NC_000019.9:g.49684671G>A	VUS	1 lab	d79b3f8568
5:13692239 DNAH5 G>A	5	13692239	13692239	G	A	DNAH5	c.13729C>T	NM_001369.3	NP_001360.1:p.(Arg4577Ter)	NC_000005.9:g.13692239G>A	(Likely) pathogenic	1 lab	d79b862d46
9:113166792 SVEP1 A>T	9	113166792	113166792	A	T	SVEP1	c.9481T>A	NM_153366.4	NP_699197.3:p.(Phe3161Ile)	NC_000009.11:g.113166792A>T	(Likely) benign	1 lab	d79e88873c
1:25889989 LDLRAP1 G>A	1	25889989	25889989	G	A	LDLRAP1	c.617-163G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889989G>A	(Likely) benign	1 lab	d7a1b91e9e
1:236889301 ACTN2 A>G	1	236889301	236889301	A	G	ACTN2	c.517A>G	NM_001103.4	NP_001094.1:p.(Ile173Val)	NC_000001.10:g.236889301A>G	VUS	1 lab	d7a38d9bca
1:201334749 TNNT2 C>T	1	201334749	201334749	C	T	TNNT2	c.253G>A	NM_001276347.2	NP_001263276.1:p.(Val85Met)	NC_000001.10:g.201334749C>T	VUS	1 lab	d7a475c5bc
X:585117 SHOX Ref too long to show for this DEL>C	X	585117	588759	Ref too long to show for this DEL	C	SHOX	c.-651_-432-2442del	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585119_588759del	VUS	1 lab	d7aa9f2771
4:57797580 REST G>A	4	57797580	57797580	G	A	REST	c.2556G>A	NM_005612.5	NP_005603.3:p.(Lys852=)	NC_000004.11:g.57797580G>A	(Likely) benign	1 lab	d7aa9fd391
19:11238473 LDLR A>C	19	11238473	11238473	A	C	LDLR	c.2312-211A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238473A>C	(Likely) benign	1 lab	d7ad8d6ff2
3:143394291 MISSING A>Alt too long to show for this DUP	3	143394291	143750650	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.143394292_143750650dup	VUS	1 lab	d7adcfb410
19:11217582 LDLR G>C	19	11217582	11217582	G	C	LDLR	c.817+219G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217582G>C	(Likely) benign	1 lab	d7ae75ae59
10:82189740 MISSING T>Alt too long to show for this DUP	10	82189740	82502637	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.82189743_82502637dup	VUS	1 lab	d7b2c372c3
22:21798905 MISSING Ref too long to show for this DEL>C	22	21798905	22997803	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21798907_22997803del	(Likely) pathogenic	1 lab	d7ba6d7215
22:29886230 NEFH G>T	22	29886230	29886230	G	T	NEFH	c.2601G>T	NM_021076.4	NP_066554.2:p.(Lys867Asn)	NC_000022.10:g.29886230G>T	(Likely) benign	1 lab	d7bac17448
6:112435318 LAMA4 T>C	6	112435318	112435318	T	C	LAMA4	c.5266A>G	NM_002290.5	NP_002281.3:p.(Ile1756Val)	NC_000006.11:g.112435318T>C	VUS	1 lab	d7bdb46752
22:41513253 EP300 T>C	22	41513253	41513253	T	C	EP300	c.157T>C	NM_001429.4	NP_001420.2:p.(Leu53=)	NC_000022.10:g.41513253T>C	(Likely) benign	1 lab	d7bdc60122
22:29130649 CHEK2 G>A	22	29130649	29130649	G	A	CHEK2	c.61C>T	NM_007194.4	NP_009125.1:p.(Pro21Ser)	NC_000022.10:g.29130649G>A	VUS	1 lab	d7c4ab40b2
15:23686163 GOLGA6L2 C>T	15	23686163	23686163	C	T	GOLGA6L2	c.1459G>A	NM_001304388.2	NP_001291317.1:p.(Glu487Lys)	NC_000015.9:g.23686163C>T	(Likely) benign	1 lab	d7c4b8ca23
15:58834807 LIPC C>A	15	58834807	58834807	C	A	LIPC	c.531C>A	NM_000236.3	NP_000227.2:p.(Ala177=)	NC_000015.9:g.58834807C>A	(Likely) benign	1 lab	d7c72359bb
12:76740358 BBS10 A>C	12	76740358	76740358	A	C	BBS10	c.1407T>G	NM_024685.4	NP_078961.3:p.(Tyr469Ter)	NC_000012.11:g.76740358A>C	(Likely) pathogenic	1 lab	d7c7f24664
1:20964270 PINK1 C>G	1	20964270	20964270	C	G	PINK1	c.388-65C>G	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20964270C>G	(Likely) benign	1 lab	d7ca127492
2:198266709 SF3B1 C>G	2	198266709	198266709	C	G	SF3B1	c.2223G>C	NM_012433.4	NP_036565.2:p.(Lys741Asn)	NC_000002.11:g.198266709C>G	VUS	1 lab	d7cb29e1bb
12:133218336 POLE C>T	12	133218336	133218336	C	T	POLE	c.5275G>A	NM_006231.4	NP_006222.2:p.(Asp1759Asn)	NC_000012.11:g.133218336C>T	VUS	1 lab	d7cc6150a8
8:48964631 MISSING T>Alt too long to show for this DUP	8	48964631	49040836	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.48964633_49040836dup	VUS	1 lab	d7d1e3faef
19:11238727 LDLR T>C	19	11238727	11238727	T	C	LDLR	c.2355T>C	NM_000527.5	NP_000518.1:p.(Ser785=)	NC_000019.9:g.11238727T>C	(Likely) benign	1 lab	d7d44a7d84
12:124317874 DNAH10 C>T	12	124317874	124317874	C	T	DNAH10	c.4405C>T	NM_207437.3	NP_997320.2:p.(Leu1469=)	NC_000012.11:g.124317874C>T	(Likely) benign	1 lab	d7d61e2993
4:153247289 FBXW7 G>A	4	153247289	153247289	G	A	FBXW7	c.1513C>T	NM_033632.3	NP_361014.1:p.(Arg505Cys)	NC_000004.11:g.153247289G>A	VUS	1 lab	d7d777a819
X:122387179 GRIA3 G>A	X	122387179	122387179	G	A	GRIA3	c.294G>A	NM_000828.5	NP_000819.4:p.(Val98=)	NC_000023.10:g.122387179G>A	(Likely) benign	1 lab	d7d9442758
2:179531618 TTN G>C	2	179531618	179531618	G	C	TTN	c.35808C>G	NM_001267550.2	NP_001254479.2:p.(Val11936=)	NC_000002.11:g.179531618G>C	(Likely) benign	1 lab	d7da9b8a25
2:220284962 DES G>C	2	220284962	220284962	G	C	DES	c.640-11G>C	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220284962G>C	(Likely) benign	1 lab	d7dafe791b
22:22990175 GGTLC2 G>A	22	22990175	22990175	G	A	GGTLC2	c.723G>A	NM_001282879.1	NP_001269808.1:p.(Ser241=)	NC_000022.10:g.22990175G>A	(Likely) benign	1 lab	d7dda702be
4:49047192 MISSING Ref too long to show for this DEL>A	4	49047192	49093788	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.49047193_49093788del	VUS	1 lab	d7e140fcf4
9:137726977 COL5A1 TCCTGGGCTCCAACGACGA>T	9	137726977	137726995	TCCTGGGCTCCAACGACGA	T	COL5A1	c.5298_5315del	NM_000093.5	NP_000084.3:p.(Phe1766_Glu1772delinsLeu)	NC_000009.11:g.137726978_137726995del	(Likely) pathogenic	1 lab	d7e2355def
2:179528589 TTN C>T	2	179528589	179528589	C	T	TTN	c.36405G>A	NM_001267550.2	NP_001254479.2:p.(Val12135=)	NC_000002.11:g.179528589C>T	(Likely) benign	1 lab	d7e99e2a34
6:32029004 TNXB G>A	6	32029004	32029004	G	A	TNXB	c.7492+170C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32029004G>A	(Likely) benign	1 lab	d7ed425b68
9:137655608 COL5A1 G>A	9	137655608	137655608	G	A	COL5A1	c.2034+25G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137655608G>A	(Likely) benign	1 lab	d7efe58978
17:75495065 SEPTIN9 T>C	17	75495065	75495065	T	C	SEPTIN9	c.*325T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75495065T>C	(Likely) benign	1 lab	d7f0013cff
16:46761154 MYLK3 G>A	16	46761154	46761154	G	A	MYLK3	c.1908C>T	NM_182493.3	NP_872299.2:p.(Asp636=)	NC_000016.9:g.46761154G>A	(Likely) benign	1 lab	d7f22ec596
6:111915385 MISSING T>Alt too long to show for this DUP	6	111915385	112046324	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.111915387_112046324dup	VUS	1 lab	d7f2ddb800
3:57902766 SLMAP A>T	3	57902766	57902766	A	T	SLMAP	c.2170A>T	NM_007159.5	NP_009090.2:p.(Ser724Cys)	NC_000003.11:g.57902766A>T	(Likely) benign	1 lab	d7f381dbb7
3:57898111 SLMAP A>G	3	57898111	57898111	A	G	SLMAP	c.1652A>G	NM_001304420.3	NP_001291349.1:p.(Gln551Arg)	NC_000003.11:g.57898111A>G	VUS	1 lab	d7f3dd1d41
2:179485027 TTN G>A	2	179485027	179485027	G	A	TTN	c.46221C>T	NM_001267550.2	NP_001254479.2:p.(Asp15407=)	NC_000002.11:g.179485027G>A	(Likely) benign	1 lab	d7f82bff73
Y:285207 MISSING T>Alt too long to show for this DUP	Y	285207	323152	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.285208_323152dup	VUS	1 lab	d7f88967ca
6:146720699 GRM1 C>T	6	146720699	146720699	C	T	GRM1	c.2524C>T	NM_001278065.2	NP_001264994.1:p.(Pro842Ser)	NC_000006.11:g.146720699C>T	VUS	1 lab	d7f9e0d13a
14:100828196 WARS1 C>T	14	100828196	100828196	C	T	WARS1	c.162G>A	NM_004184.4	NP_004175.2:p.(Ala54=)	NC_000014.8:g.100828196C>T	(Likely) benign	1 lab	d7fa429f58
6:112453970 LAMA4 G>A	6	112453970	112453970	G	A	LAMA4	c.3819C>T	NM_001105206.3	NP_001098676.2:p.(Phe1273=)	NC_000006.11:g.112453970G>A	(Likely) benign	1 lab	d7fb781470
4:8870062 HMX1 C>G	4	8870062	8870062	C	G	HMX1	c.404G>C	NM_018942.3	NP_061815.2:p.(Arg135Pro)	NC_000004.11:g.8870062C>G	(Likely) benign	1 lab	d7fef3560a
1:12062113 MFN2 G>A	1	12062113	12062113	G	A	MFN2	c.1113G>A	NM_014874.4	NP_055689.1:p.(Ala371=)	NC_000001.10:g.12062113G>A	(Likely) benign	1 lab	d7ff771180
19:11216045 LDLR T>G	19	11216045	11216045	T	G	LDLR	c.463T>G	NM_000527.5	NP_000518.1:p.(Cys155Gly)	NC_000019.9:g.11216045T>G	(Likely) pathogenic	1 lab	d8061d7f35
14:23855815 MYH6 C>T	14	23855815	23855815	C	T	MYH6	c.4668G>A	NM_002471.4	NP_002462.2:p.(Glu1556=)	NC_000014.8:g.23855815C>T	(Likely) benign	1 lab	d8062ae3ff
18:21124916 NPC1 C>CCG	18	21124916	21124917	C	CCG	NPC1	c.1947+7_1947+8insCG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124916_21124917insCG	(Likely) benign	1 lab	d809757a53
8:133900572 TG T>C	8	133900572	133900572	T	C	TG	c.2520T>C	NM_003235.5	NP_003226.4:p.(Pro840=)	NC_000008.10:g.133900572T>C	(Likely) benign	1 lab	d80b51c280
15:63335895 TPM1 C>T	15	63335895	63335895	C	T	TPM1	c.115-331C>T	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63335895C>T	(Likely) benign	1 lab	d80b6d8238
8:100182403 VPS13B A>T	8	100182403	100182403	A	T	VPS13B	c.2333+12A>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100182403A>T	(Likely) benign	1 lab	d80c292207
15:101169713 MISSING C>Alt too long to show for this DUP	15	101169713	101206773	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.101169716_101206773dup	VUS	1 lab	d80f5d881b
16:88504203 ZNF469 G>C	16	88504203	88504203	G	C	ZNF469	c.10325G>C	NM_001367624.2	NP_001354553.1:p.(Arg3442Thr)	NC_000016.9:g.88504203G>C	(Likely) benign	1 lab	d80fe5f477
5:89939808 ADGRV1 A>G	5	89939808	89939808	A	G	ADGRV1	c.2734+8A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89939808A>G	(Likely) benign	1 lab	d814ddeeab
2:179473163 TTN T>C	2	179473163	179473163	T	C	TTN	c.44743A>G	NM_133378.4	NP_596869.4:p.(Thr14915Ala)	NC_000002.11:g.179473163T>C	VUS	1 lab	d816fc5269
8:145739115 RECQL4 CGTGGGCA>C	8	145739115	145739127	CGTGGGCA	C	RECQL4	c.2059-26_2059-20del	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145739121_145739127del	(Likely) benign	1 lab	d8175d6478
6:111543454 SLC16A10 C>T	6	111543454	111543454	C	T	SLC16A10	c.*16C>T	NM_018593.5	NP_061063.2:p.?	NC_000006.11:g.111543454C>T	(Likely) benign	1 lab	d818e37ae1
7:73224784 MISSING Ref too long to show for this DEL>C	7	73224784	73465134	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.73224785_73465134del	(Likely) pathogenic	1 lab	d81aeeaf4b
16:8899460 MISSING Ref too long to show for this DEL>T	16	8899460	9037457	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.8899461_9037457del	(Likely) pathogenic	1 lab	d81b00e772
10:95372701 PDE6C G>T	10	95372701	95372701	G	T	PDE6C	c.219G>T	NM_006204.4	NP_006195.3:p.(Gly73=)	NC_000010.10:g.95372701G>T	(Likely) benign	1 lab	d81edf1ff5
19:11218078 LDLR C>G	19	11218078	11218078	C	G	LDLR	c.828C>G	NM_000527.5	NP_000518.1:p.(Cys276Trp)	NC_000019.9:g.11218078C>G	(Likely) pathogenic	1 lab	d81ee7cd02
2:179592879 TTN C>T	2	179592879	179592879	C	T	TTN	c.19672G>A	NM_001267550.2	NP_001254479.2:p.(Val6558Ile)	NC_000002.11:g.179592879C>T	VUS	1 lab	d81f937d2e
9:79321353 PRUNE2 C>T	9	79321353	79321353	C	T	PRUNE2	c.5837G>A	NM_015225.3	NP_056040.2:p.(Gly1946Asp)	NC_000009.11:g.79321353C>T	(Likely) benign	1 lab	d8241da633
7:117254667 CFTR GAGA>G	7	117254667	117254672	GAGA	G	CFTR	c.3371_3373del	NM_000492.4	NP_000483.3:p.(Glu1124del)	NC_000007.13:g.117254670_117254672del	(Likely) pathogenic	1 lab	d82472f422
4:114260492 ANK2 G>T	4	114260492	114260492	G	T	ANK2	c.3893+14G>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114260492G>T	(Likely) benign	1 lab	d82a345338
6:32041548 TNXB C>T	6	32041548	32041548	C	T	TNXB	c.4557G>A	NM_019105.8	NP_061978.6:p.(Pro1519=)	NC_000006.11:g.32041548C>T	(Likely) benign	1 lab	d82db9cb3d
5:1253951 TERT G>A	5	1253951	1253951	G	A	TERT	c.3296-5C>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1253951G>A	(Likely) benign	1 lab	d837f01a9f
21:35821910 KCNE1 G>A	21	35821910	35821910	G	A	KCNE1	c.23C>T	NM_001127670.4	NP_001121142.1:p.(Ala8Val)	NC_000021.8:g.35821910G>A	VUS	1 lab	d839c4c177
12:50501549 GPD1 G>A	12	50501549	50501549	G	A	GPD1	c.812G>A	NM_005276.4	NP_005267.2:p.(Arg271Gln)	NC_000012.11:g.50501549G>A	VUS	1 lab	d83c1b7ed4
5:89986871 ADGRV1 G>A	5	89986871	89986871	G	A	ADGRV1	c.6951+13G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89986871G>A	(Likely) benign	1 lab	d83de62126
11:10820663 EIF4G2 TAA>T	11	10820663	10820680	TAA	T	EIF4G2	c.2537-5_2537-4del	NM_001172705.1	NP_001166176.1:p.?	NC_000011.9:g.10820679_10820680del	(Likely) benign	1 lab	d83e821f7f
X:70444212 GJB1 C>T	X	70444212	70444212	C	T	GJB1	c.655C>T	NM_000166.6	NP_000157.1:p.(Arg219Cys)	NC_000023.10:g.70444212C>T	(Likely) pathogenic	1 lab	d8429055ad
2:44051427 ABCG5 G>A	2	44051427	44051427	G	A	ABCG5	c.1049C>T	NM_022436.3	NP_071881.1:p.(Thr350Met)	NC_000002.11:g.44051427G>A	(Likely) benign	1 lab	d846952b22
4:119674050 SEC24D G>GAA	4	119674050	119674051	G	GAA	SEC24D	c.1425-8_1425-7insTT	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119674050_119674051insAA	(Likely) benign	1 lab	d8470aa22a
11:121426042 SORL1 G>A	11	121426042	121426042	G	A	SORL1	c.2571+15G>A	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121426042G>A	(Likely) benign	1 lab	d84a5e4b1b
7:94034808 COL1A2 C>T	7	94034808	94034808	C	T	COL1A2	c.487-177C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94034808C>T	(Likely) benign	1 lab	d84f9a02ef
22:20920813 MED15 ACAG>A	22	20920813	20920849	ACAG	A	MED15	c.706_708del	NM_001293237.2	NP_001280166.1:p.(Gln236del)	NC_000022.10:g.20920847_20920849del	(Likely) benign	1 lab	d84fd5ebcf
12:9000206 A2ML1 A>G	12	9000206	9000206	A	G	A2ML1	c.1745A>G	NM_144670.6	NP_653271.3:p.(Gln582Arg)	NC_000012.11:g.9000206A>G	(Likely) benign	1 lab	d84ff764dc
2:179566311 TTN A>G	2	179566311	179566311	A	G	TTN	c.26810T>C	NM_133378.4	NP_596869.4:p.(Ile8937Thr)	NC_000002.11:g.179566311A>G	VUS	1 lab	d850a40664
1:19547281 EMC1 G>C	1	19547281	19547281	G	C	EMC1	c.2649C>G	NM_015047.3	NP_055862.1:p.(Pro883=)	NC_000001.10:g.19547281G>C	(Likely) benign	1 lab	d851c01a29
7:6026556 PMS2 T>A	7	6026556	6026556	T	A	PMS2	c.1840A>T	NM_000535.7	NP_000526.2:p.(Lys614Ter)	NC_000007.13:g.6026556T>A	(Likely) pathogenic	1 lab	d8563f529f
15:65286843 MISSING T>Alt too long to show for this DUP	15	65286843	65426291	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.65286846_65426291dup	VUS	1 lab	d85c740e52
5:127685542 FBN2 C>G	5	127685542	127685542	C	G	FBN2	c.2863+105G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127685542C>G	(Likely) benign	1 lab	d85e3b8621
11:46341889 CREB3L1 A>G	11	46341889	46341889	A	G	CREB3L1	c.1333A>G	NM_052854.4	NP_443086.1:p.(Met445Val)	NC_000011.9:g.46341889A>G	(Likely) benign	1 lab	d85e492016
7:143078856 ZYX C>T	7	143078856	143078856	C	T	ZYX	c.192C>T	NM_003461.5	NP_003452.1:p.(Pro64=)	NC_000007.13:g.143078856C>T	(Likely) benign	1 lab	d85e79cfc1
2:242224584 MISSING Ref too long to show for this DEL>T	2	242224584	242305038	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.242224585_242305038del	VUS	1 lab	d85e984cc4
17:41245575 BRCA1 A>G	17	41245575	41245575	A	G	BRCA1	c.1973T>C	NM_007294.4	NP_009225.1:p.(Met658Thr)	NC_000017.10:g.41245575A>G	(Likely) benign	1 lab	d85f4a7e00
9:107591272 ABCA1 G>T	9	107591272	107591272	G	T	ABCA1	c.2040C>A	NM_005502.4	NP_005493.2:p.(Ile680=)	NC_000009.11:g.107591272G>T	(Likely) benign	1 lab	d86046361d
2:220283590 DES C>T	2	220283590	220283590	C	T	DES	c.406C>T	NM_001927.4	NP_001918.3:p.(Leu136Phe)	NC_000002.11:g.220283590C>T	VUS	1 lab	d8621a3c5e
2:47630435 MSH2 C>T	2	47630435	47630435	C	T	MSH2	c.105C>T	NM_000251.3	NP_000242.1:p.(Arg35=)	NC_000002.11:g.47630435C>T	(Likely) benign	1 lab	d862c620b0
21:47536676 COL6A2 C>T	21	47536676	47536676	C	T	COL6A2	c.955-8C>T	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47536676C>T	VUS	1 lab	d86318e442
18:25593876 CDH2 G>A	18	25593876	25593876	G	A	CDH2	c.173-3C>T	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25593876G>A	(Likely) benign	1 lab	d865ffb8a9
12:49446198 KMT2D C>T	12	49446198	49446198	C	T	KMT2D	c.1268G>A	NM_003482.4	NP_003473.3:p.(Gly423Glu)	NC_000012.11:g.49446198C>T	VUS	1 lab	d86ac50e7e
16:14991893 MISSING T>Alt too long to show for this DUP	16	14991893	15228273	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.14991894_15228273dup	(Likely) pathogenic	1 lab	d86b55bf48
15:22669050 MISSING Ref too long to show for this DEL>T	15	22669050	23249681	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22669052_23249681del	(Likely) pathogenic	1 lab	d86d2de27d
10:61831290 ANK3 T>C	10	61831290	61831290	T	C	ANK3	c.9349A>G	NM_020987.5	NP_066267.2:p.(Ile3117Val)	NC_000010.10:g.61831290T>C	(Likely) benign	1 lab	d86f04069a
6:64709088 EYS A>G	6	64709088	64709088	A	G	EYS	c.6726-12T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64709088A>G	(Likely) benign	1 lab	d86f5e31af
17:57288129 SMG8 G>C	17	57288129	57288129	G	C	SMG8	c.717G>C	NM_018149.7	NP_060619.4:p.(Pro239=)	NC_000017.10:g.57288129G>C	(Likely) benign	1 lab	d874e625df
7:3327951 MISSING T>Alt too long to show for this DUP	7	3327951	3363916	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.3327952_3363916dup	VUS	1 lab	d87710c6ba
3:50230681 GNAT1 G>A	3	50230681	50230681	G	A	GNAT1	c.150-17G>A	NM_144499.3	NP_653082.1:p.?	NC_000003.11:g.50230681G>A	(Likely) benign	1 lab	d8782c8ae8
1:150526911 ADAMTSL4 GCC>G	1	150526911	150526913	GCC	G	ADAMTSL4	c.1203_1204del	NM_019032.6	NP_061905.2:p.(Gln402AlafsTer9)	NC_000001.10:g.150526912_150526913del	(Likely) pathogenic	1 lab	d87a8f8bdb
11:47359503 MYBPC3 CTTT>C	11	47359503	47359522	CTTT	C	MYBPC3	c.2309-161_2309-159del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359520_47359522del	(Likely) benign	1 lab	d87ce5b7db
5:110097261 SLC25A46 A>G	5	110097261	110097261	A	G	SLC25A46	c.1036A>G	NM_138773.4	NP_620128.1:p.(Thr346Ala)	NC_000005.9:g.110097261A>G	VUS	1 lab	d87d02bb35
3:38622402 SCN5A A>C	3	38622402	38622402	A	C	SCN5A	c.3228+20T>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38622402A>C	VUS	1 lab	d8813d081c
12:125263080 SCARB1 G>T	12	125263080	125263080	G	T	SCARB1	c.1454C>A	NM_001082959.2	NP_001076428.1:p.(Pro485His)	NC_000012.11:g.125263080G>T	VUS	1 lab	d8820bf93b
2:220146490 DNAJB2 A>C	2	220146490	220146490	A	C	DNAJB2	c.226A>C	NM_006736.6	NP_006727.2:p.(Thr76Pro)	NC_000002.11:g.220146490A>C	VUS	1 lab	d8828936f6
1:8832389 MISSING T>Alt too long to show for this DUP	1	8832389	9087966	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.8832390_9087966dup	(Likely) pathogenic	1 lab	d88456a794
20:33033086 ITCH A>T	20	33033086	33033086	A	T	ITCH	c.1089-6A>T	NM_001257137.3	NP_001244066.1:p.?	NC_000020.10:g.33033086A>T	(Likely) benign	1 lab	d8861ee63b
2:27708007 IFT172 TA>T	2	27708007	27708020	TA	T	IFT172	c.184-11del	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27708020del	(Likely) benign	1 lab	d886ef0557
12:111358037 MYL2 C>A	12	111358037	111358037	C	A	MYL2	c.3+294G>T	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111358037C>A	VUS	1 lab	d8892ada15
16:929875 LMF1 C>T	16	929875	929875	C	T	LMF1	c.331-138G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929875C>T	(Likely) benign	1 lab	d8899c15df
20:62660758 PRPF6 C>T	20	62660758	62660758	C	T	PRPF6	c.2460C>T	NM_012469.4	NP_036601.2:p.(Leu820=)	NC_000020.10:g.62660758C>T	(Likely) benign	1 lab	d88a758fe0
2:179641871 TTN C>A	2	179641871	179641871	C	A	TTN	c.4814+5G>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179641871C>A	(Likely) benign	1 lab	da4e6d89b0
2:179482657 TTN A>C	2	179482657	179482657	A	C	TTN	c.47421T>G	NM_001267550.2	NP_001254479.2:p.(Thr15807=)	NC_000002.11:g.179482657A>C	(Likely) benign	1 lab	d88e2820ea
5:14390363 TRIO AAT>A	5	14390363	14390367	AAT	A	TRIO	c.4085_4086del	NM_007118.4	NP_009049.2:p.(Tyr1362Ter)	NC_000005.9:g.14390366_14390367del	(Likely) pathogenic	1 lab	d8905121d9
12:2787050 CACNA1C C>T	12	2787050	2787050	C	T	CACNA1C	c.5235+17C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2787050C>T	(Likely) benign	1 lab	d892a29227
9:27192504 TEK A>G	9	27192504	27192504	A	G	TEK	c.1507A>G	NM_000459.5	NP_000450.3:p.(Thr503Ala)	NC_000009.11:g.27192504A>G	(Likely) benign	1 lab	d894a25b8d
3:75787194 ZNF717 C>T	3	75787194	75787194	C	T	ZNF717	c.1580G>A	NM_001128223.3	NP_001121695.1:p.(Arg527Lys)	NC_000003.11:g.75787194C>T	(Likely) benign	1 lab	d895c865f0
11:114465410 MISSING Ref too long to show for this DEL>A	11	114465410	114536178	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.114465412_114536178del	VUS	1 lab	d8966de31e
X:69503794 RAB41 G>A	X	69503794	69503794	G	A	RAB41	c.453-6G>A	NM_001032726.3	NP_001027898.2:p.?	NC_000023.10:g.69503794G>A	(Likely) benign	1 lab	d898df9916
19:40900557 PRX G>A	19	40900557	40900557	G	A	PRX	c.3702C>T	NM_181882.3	NP_870998.2:p.(Gly1234=)	NC_000019.9:g.40900557G>A	VUS	1 lab	d898eed2cb
1:177917091 SEC16B G>GA	1	177917091	177917097	G	GA	SEC16B	c.1546-15dup	NM_033127.4	NP_149118.2:p.?	NC_000001.10:g.177917097dup	(Likely) benign	1 lab	d89ca830e1
2:179583211 TTN C>T	2	179583211	179583211	C	T	TTN	c.20890G>A	NM_133378.4	NP_596869.4:p.(Glu6964Lys)	NC_000002.11:g.179583211C>T	VUS	1 lab	d89cab5d00
1:236849880 ACTN2 G>T	1	236849880	236849880	G	T	ACTN2	c.-94G>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236849880G>T	(Likely) benign	1 lab	d89f4db323
11:108100039 ATM G>A	11	108100039	108100039	G	A	ATM	c.320G>A	NM_000051.4	NP_000042.3:p.(Cys107Tyr)	NC_000011.9:g.108100039G>A	(Likely) benign	1 lab	d8a617cf1c
14:77493773 IRF2BPL C>T	14	77493773	77493773	C	T	IRF2BPL	c.363G>A	NM_024496.4	NP_078772.1:p.(Gln121=)	NC_000014.8:g.77493773C>T	(Likely) benign	1 lab	d8a61fda54
16:1004442 LMF1 C>T	16	1004442	1004442	C	T	LMF1	c.91G>A	NM_001352019.2	NP_001338948.1:p.(Val31Ile)	NC_000016.9:g.1004442C>T	(Likely) benign	1 lab	d8a856daac
1:55523855 PCSK9 G>A	1	55523855	55523855	G	A	PCSK9	c.1327G>A	NM_174936.4	NP_777596.2:p.(Ala443Thr)	NC_000001.10:g.55523855G>A	(Likely) benign	1 lab	d8a95e7986
5:112170772 APC G>A	5	112170772	112170772	G	A	APC	c.1868G>A	NM_000038.6	NP_000029.2:p.(Arg623Gln)	NC_000005.9:g.112170772G>A	(Likely) benign	1 lab	d8a9af1195
17:8925710 NTN1 AGGCGCTGGC>A	17	8925710	8925732	AGGCGCTGGC	A	NTN1	c.34_42del	NM_004822.3	NP_004813.2:p.(Leu12_Ala14del)	NC_000017.10:g.8925724_8925732del	VUS	1 lab	d8b54ad273
5:95728753 PCSK1 G>A	5	95728753	95728753	G	A	PCSK1	c.2214C>T	NM_000439.5	NP_000430.3:p.(Asp738=)	NC_000005.9:g.95728753G>A	(Likely) benign	1 lab	d8b5b8f328
1:55509705 PCSK9 C>T	1	55509705	55509705	C	T	PCSK9	c.397C>T	NM_174936.4	NP_777596.2:p.(Leu133=)	NC_000001.10:g.55509705C>T	(Likely) benign	1 lab	d8b6b8cc56
16:23646270 PALB2 T>C	16	23646270	23646270	T	C	PALB2	c.1597A>G	NM_024675.4	NP_078951.2:p.(Thr533Ala)	NC_000016.9:g.23646270T>C	(Likely) benign	1 lab	d8b73b4d45
15:31362444 TRPM1 A>ACCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT	15	31362444	31362445	A	ACCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT	TRPM1	c.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31362444_31362445insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT	(Likely) benign	1 lab	d8b7ad8e60
2:39281963 SOS1 A>C	2	39281963	39281963	A	C	SOS1	c.512T>G	NM_005633.4	NP_005624.2:p.(Val171Gly)	NC_000002.11:g.39281963A>C	(Likely) pathogenic	1 lab	d8b959e7a5
14:91744445 CCDC88C C>T	14	91744445	91744445	C	T	CCDC88C	c.4879G>A	NM_001080414.4	NP_001073883.2:p.(Ala1627Thr)	NC_000014.8:g.91744445C>T	VUS	1 lab	d8ba98a6d5
1:45974821 MMACHC G>A	1	45974821	45974821	G	A	MMACHC	c.612G>A	NM_001330540.2	NP_001317469.1:p.(Gly204=)	NC_000001.10:g.45974821G>A	(Likely) benign	1 lab	d8babb0a40
3:132193894 DNAJC13 G>A	3	132193894	132193894	G	A	DNAJC13	c.2410G>A	NM_015268.4	NP_056083.3:p.(Ala804Thr)	NC_000003.11:g.132193894G>A	(Likely) benign	1 lab	d8bc5c0b19
19:11234463 LDLR A>ATT	19	11234463	11234474	A	ATT	LDLR	c.2311+453_2311+454dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234473_11234474dup	(Likely) benign	1 lab	d8bc70a931
19:55668957 DNAAF3 T>C	19	55668957	55668957	T	C	DNAAF3				NC_000019.9:g.55668957T>C	(Likely) pathogenic	1 lab	d8bdd40c32
4:15538598 CC2D2A GA>G	4	15538598	15538601	GA	G	CC2D2A	c.1666del	NM_001080522.2	NP_001073991.2:p.(Ile556Ter)	NC_000004.11:g.15538601del	(Likely) pathogenic	1 lab	d8be431388
X:40017193 MISSING Ref too long to show for this DEL>A	X	40017193	44369258	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.40017194_44369258del	(Likely) pathogenic	1 lab	d8be68abc0
19:42795404 CIC C>T	19	42795404	42795404	C	T	CIC	c.5211C>T	NM_001304815.2	NP_001291744.1:p.(Ile1737=)	NC_000019.9:g.42795404C>T	(Likely) benign	1 lab	d8bf5b1ee0
7:128478491 FLNC G>A	7	128478491	128478491	G	A	FLNC	c.1210+8G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478491G>A	(Likely) benign	1 lab	d8c032ed7a
Y:306292 MISSING G>Alt too long to show for this DUP	Y	306292	626468	G	Alt too long to show for this DUP	MISSING				NC_000024.9:g.306293_626468dup	VUS	1 lab	d8c2763d3b
6:7577220 DSP G>A	6	7577220	7577220	G	A	DSP	c.2822G>A	NM_004415.4	NP_004406.2:p.(Arg941Gln)	NC_000006.11:g.7577220G>A	VUS	1 lab	d8c59d476e
15:31334233 TRPM1 G>A	15	31334233	31334233	G	A	TRPM1	c.2059C>T	NM_001252020.2	NP_001238949.1:p.(Leu687Phe)	NC_000015.9:g.31334233G>A	VUS	1 lab	d8c6cd0f55
X:9684299 TBL1X A>G	X	9684299	9684299	A	G	TBL1X	c.*13A>G	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9684299A>G	(Likely) benign	1 lab	d8c6e9d6a6
2:238255120 COL6A3 C>T	2	238255120	238255120	C	T	COL6A3	c.7092+26G>A	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238255120C>T	(Likely) benign	1 lab	d8c8598d76
2:47635600 MSH2 ATCT>A	2	47635600	47635609	ATCT	A	MSH2	c.279_281del	NM_000251.3	NP_000242.1:p.(Leu94del)	NC_000002.11:g.47635607_47635609del	(Likely) benign	1 lab	d8c965b1ee
16:81390603 GAN A>T	16	81390603	81390603	A	T	GAN	c.847A>T	NM_022041.4	NP_071324.1:p.(Arg283Ter)	NC_000016.9:g.81390603A>T	(Likely) pathogenic	1 lab	d8cab486cb
3:38651283 SCN5A G>A	3	38651283	38651283	G	A	SCN5A	c.876C>T	NM_198056.3	NP_932173.1:p.(Gly292=)	NC_000003.11:g.38651283G>A	(Likely) benign	1 lab	d8cd9b2ce9
16:920742 LMF1 C>T	16	920742	920742	C	T	LMF1	c.820G>A	NM_001352018.2	NP_001338947.1:p.(Gly274Arg)	NC_000016.9:g.920742C>T	VUS	1 lab	d8d328a35b
15:60789741 RORA G>T	15	60789741	60789741	G	T	RORA	c.1584C>A	NM_134260.3	NP_599022.1:p.(Tyr528Ter)	NC_000015.9:g.60789741G>T	(Likely) pathogenic	1 lab	d8d343ea49
1:55505266 PCSK9 G>C	1	55505266	55505266	G	C	PCSK9	c.-245G>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505266G>C	(Likely) benign	1 lab	d8d6545989
9:107591335 ABCA1 G>A	9	107591335	107591335	G	A	ABCA1	c.1977C>T	NM_005502.4	NP_005493.2:p.(Ile659=)	NC_000009.11:g.107591335G>A	(Likely) benign	1 lab	d8d6564964
2:179421602 TTN C>T	2	179421602	179421602	C	T	TTN	c.88279G>A	NM_001267550.2	NP_001254479.2:p.(Gly29427Arg)	NC_000002.11:g.179421602C>T	VUS	1 lab	d8d94723b6
2:224877729 MISSING Ref too long to show for this DEL>C	2	224877729	225811469	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.224877730_225811469del	VUS	1 lab	d8da96a57f
16:921173 LMF1 C>A	16	921173	921173	C	A	LMF1	c.667G>T	NM_001352018.2	NP_001338947.1:p.(Glu223Ter)	NC_000016.9:g.921173C>A	(Likely) pathogenic	1 lab	d8db43960f
16:943534 LMF1 C>A	16	943534	943534	C	A	LMF1	c.265-462G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943534C>A	(Likely) benign	1 lab	d8df5a6e9b
6:158537305 SERAC1 A>G	6	158537305	158537305	A	G	SERAC1	c.1413T>C	NM_032861.4	NP_116250.3:p.(Ile471=)	NC_000006.11:g.158537305A>G	(Likely) benign	1 lab	d8e1826273
6:79752571 PHIP G>A	6	79752571	79752571	G	A	PHIP	c.589C>T	NM_017934.7	NP_060404.4:p.(Arg197Trp)	NC_000006.11:g.79752571G>A	VUS	1 lab	d8e2ee87f6
1:55518054 PCSK9 C>T	1	55518054	55518054	C	T	PCSK9	c.627C>T	NM_174936.4	NP_777596.2:p.(Pro209=)	NC_000001.10:g.55518054C>T	(Likely) benign	1 lab	d901a3076e
9:79930225 VPS13A G>A	9	79930225	79930225	G	A	VPS13A	c.4469G>A	NM_033305.3	NP_150648.2:p.(Arg1490Lys)	NC_000009.11:g.79930225G>A	(Likely) benign	1 lab	d8f0e5fc7f
7:27148344 HOXA3 G>A	7	27148344	27148344	G	A	HOXA3	c.527-5C>T	NM_153631.3	NP_705895.1:p.?	NC_000007.13:g.27148344G>A	(Likely) benign	1 lab	d8f2fab0cd
11:108205711 ATM G>C	11	108205711	108205711	G	C	ATM	c.8026G>C	NM_000051.4	NP_000042.3:p.(Glu2676Gln)	NC_000011.9:g.108205711G>C	VUS	1 lab	d8f5f233e1
16:66757728 DYNC1LI2 G>GA	16	66757728	66757741	G	GA	DYNC1LI2	c.1262-4dup	NM_001323955.2	NP_001310884.1:p.?	NC_000016.9:g.66757741dup	(Likely) benign	1 lab	d8f8de711e
18:31374076 MISSING G>Alt too long to show for this DUP	18	31374076	31432739	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.31374082_31432739dup	VUS	1 lab	d8f9f02380
6:65300527 EYS C>T	6	65300527	65300527	C	T	EYS	c.5233G>A	NM_001292009.2	NP_001278938.1:p.(Asp1745Asn)	NC_000006.11:g.65300527C>T	VUS	1 lab	d8fa16f064
1:94495083 ABCA4 G>A	1	94495083	94495083	G	A	ABCA4	c.4457C>T	NM_000350.3	NP_000341.2:p.(Pro1486Leu)	NC_000001.10:g.94495083G>A	(Likely) pathogenic	1 lab	d8fd603e89
10:90708572 ACTA2 C>T	10	90708572	90708572	C	T	ACTA2	c.116G>A	NM_001141945.2	NP_001135417.1:p.(Arg39His)	NC_000010.10:g.90708572C>T	(Likely) pathogenic	1 lab	d8fd72ee20
3:3189658 TRNT1 A>G	3	3189658	3189658	A	G	TRNT1	c.1125A>G	NM_001367321.1	NP_001354250.1:p.(Leu375=)	NC_000003.11:g.3189658A>G	(Likely) benign	1 lab	d9003ee617
3:129696025 TRH G>A	3	129696025	129696025	G	A	TRH	c.695G>A	NM_007117.5	NP_009048.1:p.(Arg232Gln)	NC_000003.11:g.129696025G>A	(Likely) benign	1 lab	d9026190d4
X:38145135 RPGR TCCTTCCTCTTCCTCTCCTTCCCCCTCTCCTTCCTCCCCTTCCACCTCCCCTTCCACTTCCCCTTCCTCTTCTTCCTCCCCTTCTCCCTCCCCTTCTTCCTCTCCCTCTCCTTCTTCCTCCCCTTCTTCTTCC>T	X	38145135	38145275	TCCTTCCTCTTCCTCTCCTTCCCCCTCTCCTTCCTCCCCTTCCACCTCCCCTTCCACTTCCCCTTCCTCTTCTTCCTCCCCTTCTCCCTCCCCTTCTTCCTCTCCCTCTCCTTCTTCCTCCCCTTCTTCTTCC	T	RPGR	c.2985_3116del	NM_001034853.2	NP_001030025.1:p.(Glu1002_Glu1045del)	NC_000023.10:g.38145144_38145275del	VUS	1 lab	d904e4aabd
2:121554975 GLI2 G>A	2	121554975	121554975	G	A	GLI2	c.79G>A	NM_001371271.1	NP_001358200.1:p.(Asp27Asn)	NC_000002.11:g.121554975G>A	VUS	1 lab	d9070adcb4
2:179482495 TTN G>A	2	179482495	179482495	G	A	TTN	c.47572+11C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179482495G>A	(Likely) benign	1 lab	d908c3317e
18:34205551 FHOD3 C>T	18	34205551	34205551	C	T	FHOD3	c.1035C>T	NM_001281740.3	NP_001268669.1:p.(Ser345=)	NC_000018.9:g.34205551C>T	(Likely) benign	1 lab	d908c81fce
18:47107823 LIPG G>A	18	47107823	47107823	G	A	LIPG	c.832G>A	NM_006033.4	NP_006024.1:p.(Val278Ile)	NC_000018.9:g.47107823G>A	(Likely) benign	1 lab	d9092562ef
4:103553439 MANBA C>T	4	103553439	103553439	C	T	MANBA	c.2416-1G>A	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103553439C>T	VUS	1 lab	d90a326296
7:84595805 MISSING G>Alt too long to show for this DUP	7	84595805	84669146	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.84595807_84669146dup	VUS	1 lab	d90a61b715
5:140186166 PCDHA1 Ref too long to show for this DEL>C	5	140186166	140242907	Ref too long to show for this DEL	C	PCDHA1	c.2394+17898_2394+74638del	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140186167_140242907del	VUS	1 lab	d90bf33072
16:929562 LMF1 G>A	16	929562	929562	G	A	LMF1	c.897+8C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929562G>A	(Likely) benign	1 lab	d90e50ac5e
14:23889216 MYH7 A>G	14	23889216	23889216	A	G	MYH7	c.3564T>C	NM_000257.4	NP_000248.2:p.(Thr1188=)	NC_000014.8:g.23889216A>G	(Likely) benign	1 lab	d90ea7894e
5:148411262 SH3TC2 C>A	5	148411262	148411262	C	A	SH3TC2	c.1002-12G>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148411262C>A	(Likely) benign	1 lab	d912afff95
11:116660832 APOA5 G>A	11	116660832	116660832	G	A	APOA5	c.*12C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660832G>A	(Likely) benign	1 lab	d916205a04
8:100866260 VPS13B C>T	8	100866260	100866260	C	T	VPS13B	c.10718C>T	NM_017890.5	NP_060360.3:p.(Thr3573Ile)	NC_000008.10:g.100866260C>T	VUS	1 lab	d917754017
10:75848951 VCL C>G	10	75848951	75848951	C	G	VCL	c.1023-3C>G	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75848951C>G	VUS	1 lab	d918572996
11:116707054 APOA1 T>C	11	116707054	116707054	T	C	APOA1	c.274A>G	NM_001318017.2	NP_001304946.1:p.(Thr92Ala)	NC_000011.9:g.116707054T>C	VUS	1 lab	d91868ac84
19:50779245 MYH14 C>T	19	50779245	50779245	C	T	MYH14	c.3468-3C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50779245C>T	(Likely) benign	1 lab	d91d4f2eb0
14:45606387 FANCM A>G	14	45606387	45606387	A	G	FANCM	c.624A>G	NM_020937.4	NP_065988.1:p.(Ile208Met)	NC_000014.8:g.45606387A>G	(Likely) benign	1 lab	d91f670fc6
7:65448371 MISSING A>Alt too long to show for this DUP	7	65448371	65586944	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.65448372_65586944dup	VUS	1 lab	d9212d374d
20:61041466 GATA5 C>T	20	61041466	61041466	C	T	GATA5	c.825+16G>A	NM_080473.5	NP_536721.1:p.?	NC_000020.10:g.61041466C>T	(Likely) benign	1 lab	d95909355e
22:40621520 TNRC6B Ref too long to show for this DEL>G	22	40621520	40636800	Ref too long to show for this DEL	G	TNRC6B	c.6-20497_6-5219del	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40621522_40636800del	VUS	1 lab	d926ec9e66
19:7625602 PNPLA6 G>T	19	7625602	7625602	G	T	PNPLA6	c.3798G>T	NM_001166111.2	NP_001159583.1:p.(Met1266Ile)	NC_000019.9:g.7625602G>T	VUS	1 lab	d9275e60a0
18:77475060 CTDP1 G>A	18	77475060	77475060	G	A	CTDP1	c.1600G>A	NM_048368.4	NP_430255.2:p.(Glu534Lys)	NC_000018.9:g.77475060G>A	VUS	1 lab	d9295db406
11:56143259 OR8U1 AGT>A	11	56143259	56143261	AGT	A	OR8U1	c.161_162del	NM_001005204.1	NP_001005204.1:p.(Ser54ThrfsTer10)	NC_000011.9:g.56143260_56143261del	(Likely) benign	1 lab	d933cf5559
3:195452814 MUC20 C>T	3	195452814	195452814	C	T	MUC20	c.1340C>T	NM_001282506.2	NP_001269435.1:p.(Thr447Met)	NC_000003.11:g.195452814C>T	(Likely) benign	1 lab	d935905288
10:88441359 LDB3 C>T	10	88441359	88441359	C	T	LDB3	c.488C>T	NM_001080115.2	NP_001073584.1:p.(Pro163Leu)	NC_000010.10:g.88441359C>T	VUS	1 lab	d9363d15a1
9:133760851 ABL1 G>A	9	133760851	133760851	G	A	ABL1	c.3231G>A	NM_007313.2	NP_009297.2:p.(Glu1077=)	NC_000009.11:g.133760851G>A	(Likely) benign	1 lab	d937105eec
15:80886056 ARNT2 G>A	15	80886056	80886056	G	A	ARNT2	c.*17G>A	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80886056G>A	(Likely) benign	1 lab	d9372f8c5c
X:70443981 GJB1 C>T	X	70443981	70443981	C	T	GJB1	c.424C>T	NM_000166.6	NP_000157.1:p.(Arg142Trp)	NC_000023.10:g.70443981C>T	(Likely) pathogenic	1 lab	d937da1473
17:29556163 NF1 C>T	17	29556163	29556163	C	T	NF1	c.2530C>T	NM_001042492.3	NP_001035957.1:p.(Leu844Phe)	NC_000017.10:g.29556163C>T	(Likely) pathogenic	1 lab	d93bc2a89a
9:140407571 MISSING Ref too long to show for this DEL>T	9	140407571	141122115	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.140407573_141122115del	(Likely) pathogenic	1 lab	d93c0fdfb5
X:69370125 IGBP1 G>A	X	69370125	69370125	G	A	IGBP1	c.824G>A	NM_001551.3	NP_001542.1:p.(Arg275Gln)	NC_000023.10:g.69370125G>A	(Likely) benign	1 lab	d93d79ac06
5:110074967 SLC25A46 C>T	5	110074967	110074967	C	T	SLC25A46	c.147C>T	NM_138773.4	NP_620128.1:p.(Ile49=)	NC_000005.9:g.110074967C>T	(Likely) benign	1 lab	d93ec92b53
17:36486335 GPR179 T>A	17	36486335	36486335	T	A	GPR179	c.3117A>T	NM_001004334.4	NP_001004334.3:p.(Lys1039Asn)	NC_000017.10:g.36486335T>A	(Likely) benign	1 lab	d940798c0f
2:97911778 ANKRD36 C>T	2	97911778	97911778	C	T	ANKRD36	c.5376C>T	NM_001354587.1	NP_001341516.1:p.(Cys1792=)	NC_000002.11:g.97911778C>T	(Likely) benign	1 lab	d943030d02
8:38272427 FGFR1 A>G	8	38272427	38272427	A	G	FGFR1	c.1855-8T>C	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38272427A>G	(Likely) benign	1 lab	d94d1fac5f
2:170354200 BBS5 G>T	2	170354200	170354200	G	T	BBS5	c.681+1G>T	NM_152384.3	NP_689597.1:p.?	NC_000002.11:g.170354200G>T	(Likely) pathogenic	1 lab	d94e6cd500
3:37560842 ITGA9 A>G	3	37560842	37560842	A	G	ITGA9	c.1233A>G	NM_002207.3	NP_002198.2:p.(Ser411=)	NC_000003.11:g.37560842A>G	(Likely) benign	1 lab	d94f1ea093
15:23890851 MAGEL2 A>AGT	15	23890851	23890856	A	AGT	MAGEL2	c.2037_2038dup	NM_019066.5	NP_061939.3:p.(Leu680HisfsTer23)	NC_000015.9:g.23890855_23890856dup	(Likely) pathogenic	1 lab	d94ffed1d5
8:1830923 ARHGEF10 C>T	8	1830923	1830923	C	T	ARHGEF10	c.1150+8C>T	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1830923C>T	(Likely) benign	1 lab	d95a5800bf
10:47086918 NPY4R C>T	10	47086918	47086918	C	T	NPY4R	c.135C>T	NM_005972.6	NP_005963.4:p.(Val45=)	NC_000010.10:g.47086918C>T	(Likely) benign	1 lab	d95b1d2384
19:55341411 KIR3DL1 A>G	19	55341411	55341411	A	G	KIR3DL1	c.1134A>G	NM_013289.3	NP_037421.2:p.(Ala378=)	NC_000019.9:g.55341411A>G	(Likely) benign	1 lab	d95ecaa6c0
2:179448350 TTN A>G	2	179448350	179448350	A	G	TTN	c.65559T>C	NM_001267550.2	NP_001254479.2:p.(Thr21853=)	NC_000002.11:g.179448350A>G	(Likely) benign	1 lab	d960f43e9f
15:34635241 SLC12A6 C>G	15	34635241	34635241	C	G	SLC12A6				NC_000015.9:g.34635241C>G	(Likely) benign	1 lab	d961a16cc0
9:107599242 ABCA1 T>A	9	107599242	107599242	T	A	ABCA1	c.1311+19A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599242T>A	(Likely) benign	1 lab	d9624cb897
14:105180720 INF2 G>A	14	105180720	105180720	G	A	INF2	c.3221G>A	NM_022489.4	NP_071934.3:p.(Arg1074Lys)	NC_000014.8:g.105180720G>A	VUS	1 lab	d963bcc5cf
7:150647231 KCNH2 C>A	7	150647231	150647231	C	A	KCNH2	c.2423G>T	NM_172056.2	NP_742053.1:p.(Gly808Val)	NC_000007.13:g.150647231C>A	(Likely) benign	1 lab	d96532f5f5
16:1004432 LMF1 G>A	16	1004432	1004432	G	A	LMF1	c.101C>T	NM_001352019.2	NP_001338948.1:p.(Thr34Met)	NC_000016.9:g.1004432G>A	VUS	1 lab	d965893a3c
17:18945120 MISSING G>Alt too long to show for this DUP	17	18945120	18997166	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.18945121_18997166dup	(Likely) pathogenic	1 lab	d966a5c41c
18:47565334 MYO5B Ref too long to show for this DEL>A	18	47565334	47574816	Ref too long to show for this DEL	A	MYO5B	c.138+6824_310+1178del	NM_001080467.3	NP_001073936.1:p.?	NC_000018.9:g.47565337_47574816del	VUS	1 lab	d9690808f6
9:113233738 SVEP1 T>C	9	113233738	113233738	T	C	SVEP1	c.2904A>G	NM_153366.4	NP_699197.3:p.(Ala968=)	NC_000009.11:g.113233738T>C	(Likely) benign	1 lab	d969e6ee6a
16:15829440 MYH11 C>T	16	15829440	15829440	C	T	MYH11	c.3315-5G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15829440C>T	VUS	1 lab	d972cacbe3
2:179611846 TTN C>T	2	179611846	179611846	C	T	TTN	c.15281G>A	NM_133379.5	NP_596870.2:p.(Arg5094Lys)	NC_000002.11:g.179611846C>T	(Likely) benign	1 lab	d97405fbfd
4:55948227 KDR G>A	4	55948227	55948227	G	A	KDR	c.3763-19C>T	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55948227G>A	(Likely) benign	1 lab	d97bb09eae
19:11221353 LDLR C>T	19	11221353	11221353	C	T	LDLR	c.966C>T	NM_000527.5	NP_000518.1:p.(Asn322=)	NC_000019.9:g.11221353C>T	(Likely) benign	1 lab	d97dc6460f
3:184046561 EIF4G1 G>A	3	184046561	184046561	G	A	EIF4G1	c.4082+17G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184046561G>A	(Likely) benign	1 lab	d994d13e86
17:16782545 MISSING Ref too long to show for this DEL>T	17	16782545	20463361	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.16782546_20463361del	(Likely) pathogenic	1 lab	d97fd2aae9
10:28142294 ODAD2 T>TATAA	10	28142294	28142323	T	TATAA	ODAD2	c.3021+7256_3021+7259dup	NM_001290020.2	NP_001276949.1:p.?	NC_000010.10:g.28142320_28142323dup	(Likely) benign	1 lab	d980617218
22:50893331 SBF1 G>A	22	50893331	50893331	G	A	SBF1	c.4724C>T	NM_002972.4	NP_002963.2:p.(Pro1575Leu)	NC_000022.10:g.50893331G>A	VUS	1 lab	d983b50a36
7:91737943 AKAP9 G>T	7	91737943	91737943	G	T	AKAP9	c.11682G>T	NM_005751.5	NP_005742.4:p.(Gln3894His)	NC_000007.13:g.91737943G>T	VUS	1 lab	d9861de901
5:149310727 PDE6A A>G	5	149310727	149310727	A	G	PDE6A	c.722T>C	NM_000440.3	NP_000431.2:p.(Leu241Pro)	NC_000005.9:g.149310727A>G	VUS	1 lab	d98ab9de2a
X:70444215 GJB1 C>G	X	70444215	70444215	C	G	GJB1	c.658C>G	NM_000166.6	NP_000157.1:p.(Arg220Gly)	NC_000023.10:g.70444215C>G	(Likely) pathogenic	1 lab	d98c57d882
21:44841183 SIK1 C>T	21	44841183	44841183	C	T	SIK1	c.564G>A	NM_173354.5	NP_775490.2:p.(Pro188=)	NC_000021.8:g.44841183C>T	(Likely) benign	1 lab	d98cf92c49
11:10051294 SBF2 T>A	11	10051294	10051294	T	A	SBF2	c.513+18A>T	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.10051294T>A	(Likely) benign	1 lab	d98d295986
5:178139379 ZNF354A C>G	5	178139379	178139379	C	G	ZNF354A	c.1500G>C	NM_005649.3	NP_005640.2:p.(Gly500=)	NC_000005.9:g.178139379C>G	(Likely) benign	1 lab	d98f69c7e9
2:39240584 SOS1 TA>T	2	39240584	39240595	TA	T	SOS1	c.2167+16del	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39240595del	(Likely) benign	1 lab	d99187bba7
7:72659464 MISSING Ref too long to show for this DEL>T	7	72659464	74141785	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72659466_74141785del	(Likely) pathogenic	1 lab	d99336bcfa
12:50498406 GPD1 C>T	12	50498406	50498406	C	T	GPD1	c.91C>T	NM_005276.4	NP_005267.2:p.(Gln31Ter)	NC_000012.11:g.50498406C>T	(Likely) pathogenic	1 lab	d99a7bb2d1
14:64066340 WDR89 A>G	14	64066340	64066340	A	G	WDR89	c.321T>C	NM_001258272.2	NP_001245201.1:p.(Val107=)	NC_000014.8:g.64066340A>G	(Likely) benign	1 lab	d99b1e87d7
11:68696681 IGHMBP2 T>C	11	68696681	68696681	T	C	IGHMBP2	c.1091T>C	NM_002180.3	NP_002171.2:p.(Leu364Pro)	NC_000011.9:g.68696681T>C	(Likely) pathogenic	1 lab	d99cb10579
19:45412493 APOE A>C	19	45412493	45412493	A	C	APOE	c.1018A>C	NM_001302688.2	NP_001289617.1:p.(Ser340Arg)	NC_000019.9:g.45412493A>C	VUS	1 lab	d99e1312c7
6:123892159 TRDN A>T	6	123892159	123892159	A	T	TRDN	c.141T>A	NM_006073.4	NP_006064.2:p.(Pro47=)	NC_000006.11:g.123892159A>T	(Likely) benign	1 lab	d99ff53dcc
9:139401013 NOTCH1 T>C	9	139401013	139401013	T	C	NOTCH1	c.3980A>G	NM_017617.5	NP_060087.3:p.(Asn1327Ser)	NC_000009.11:g.139401013T>C	VUS	1 lab	d9a208872c
9:135224807 SETX T>C	9	135224807	135224807	T	C	SETX	c.9A>G	NM_015046.7	NP_055861.3:p.(Thr3=)	NC_000009.11:g.135224807T>C	(Likely) benign	1 lab	d9a31a9701
2:179424048 TTN-AS1 T>C	2	179424048	179424048	T	C	TTN-AS1	n.2043+16960T>C	NR_038272.1		NC_000002.11:g.179424048T>C	(Likely) benign	1 lab	d9a497ce8a
16:1005021 LMF1 C>G	16	1005021	1005021	C	G	LMF1	c.-361-355G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005021C>G	(Likely) benign	1 lab	d9a71b6a95
11:46723136 ZNF408 C>T	11	46723136	46723136	C	T	ZNF408	c.240C>T	NM_024741.3	NP_079017.1:p.(Asp80=)	NC_000011.9:g.46723136C>T	(Likely) benign	1 lab	d9aa114b46
17:41251781 BRCA1 G>T	17	41251781	41251781	G	T	BRCA1	c.547+11C>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41251781G>T	(Likely) benign	1 lab	d9ad4d9b71
12:20864356 SLCO1C1 C>T	12	20864356	20864356	C	T	SLCO1C1	c.441C>T	NM_001145946.2	NP_001139418.1:p.(Ser147=)	NC_000012.11:g.20864356C>T	(Likely) benign	1 lab	d9b0372ddf
14:23891386 MYH7 T>A	14	23891386	23891386	T	A	MYH7	c.3245+3A>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23891386T>A	(Likely) benign	1 lab	d9b145e13d
9:138676641 KCNT1 C>T	9	138676641	138676641	C	T	KCNT1	c.3062C>T	NM_020822.3	NP_065873.2:p.(Thr1021Met)	NC_000009.11:g.138676641C>T	VUS	1 lab	d9b1bdc852
11:116661334 APOA5 C>G	11	116661334	116661334	C	G	APOA5	c.611G>C	NM_052968.5	NP_443200.2:p.(Arg204Pro)	NC_000011.9:g.116661334C>G	VUS	1 lab	d9b4dc9994
11:18309480 HPS5 C>A	11	18309480	18309480	C	A	HPS5	c.2521G>T	NM_181507.2	NP_852608.1:p.(Val841Phe)	NC_000011.9:g.18309480C>A	VUS	1 lab	d9b530e3e0
12:20864453 SLCO1C1 A>AT	12	20864453	20864460	A	AT	SLCO1C1	c.529+16dup	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20864460dup	(Likely) benign	1 lab	d9b5d0b316
11:68673613 IGHMBP2 C>T	11	68673613	68673613	C	T	IGHMBP2	c.163C>T	NM_002180.3	NP_002171.2:p.(Gln55Ter)	NC_000011.9:g.68673613C>T	(Likely) pathogenic	1 lab	d9b9a5abac
18:2255006 MISSING A>Alt too long to show for this DUP	18	2255006	2774827	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.2255007_2774827dup	VUS	1 lab	d9bd2a09b9
2:21260136 APOB G>A	2	21260136	21260136	G	A	APOB	c.538-9C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260136G>A	(Likely) benign	1 lab	d9bf1cf899
10:47087389 NPY4R C>T	10	47087389	47087389	C	T	NPY4R	c.606C>T	NM_005972.6	NP_005963.4:p.(Thr202=)	NC_000010.10:g.47087389C>T	(Likely) benign	1 lab	d9c1f6d084
2:179482598 TTN T>C	2	179482598	179482598	T	C	TTN	c.47480A>G	NM_001267550.2	NP_001254479.2:p.(Gln15827Arg)	NC_000002.11:g.179482598T>C	VUS	1 lab	d9c428a3bc
12:59313936 LRIG3 T>G	12	59313936	59313936	T	G	LRIG3	c.81A>C	NM_153377.5	NP_700356.2:p.(Ser27=)	NC_000012.11:g.59313936T>G	(Likely) benign	1 lab	d9c42b4f59
9:137706344 COL5A1 C>A	9	137706344	137706344	C	A	COL5A1	c.3907-299C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137706344C>A	(Likely) benign	1 lab	d9cb620ff1
6:32024617 TNXB C>T	6	32024617	32024617	C	T	TNXB	c.7889G>A	NM_019105.8	NP_061978.6:p.(Arg2630His)	NC_000006.11:g.32024617C>T	(Likely) benign	1 lab	d9cc34c2a2
11:47360319 MYBPC3 AT>A	11	47360319	47360320	AT	A	MYBPC3	c.2149-90del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360320del	(Likely) benign	1 lab	d9d166d7ac
12:32552826 FGD4 G>A	12	32552826	32552826	G	A	FGD4	c.99G>A	NM_001370298.3	NP_001357227.2:p.(Arg33=)	NC_000012.11:g.32552826G>A	(Likely) benign	1 lab	d9dde50cca
16:70935052 HYDIN C>T	16	70935052	70935052	C	T	HYDIN	c.8903G>A	NM_001270974.2	NP_001257903.1:p.(Trp2968Ter)	NC_000016.9:g.70935052C>T	(Likely) pathogenic	1 lab	d9e1393bf4
12:21377745 SLCO1B1 T>C	12	21377745	21377745	T	C	SLCO1B1	c.1837T>C	NM_006446.5	NP_006437.3:p.(Cys613Arg)	NC_000012.11:g.21377745T>C	(Likely) benign	1 lab	d9e4f86017
11:1782652 CTSD C>A	11	1782652	1782652	C	A	CTSD	c.115G>T	NM_001909.5	NP_001900.1:p.(Val39Phe)	NC_000011.9:g.1782652C>A	(Likely) benign	1 lab	da0e2e3f31
1:150531905 ADAMTSL4 C>A	1	150531905	150531905	C	A	ADAMTSL4	c.2906C>A	NM_019032.6	NP_061905.2:p.(Ala969Asp)	NC_000001.10:g.150531905C>A	(Likely) benign	1 lab	d9ed0a8822
17:48272970 COL1A1 A>G	17	48272970	48272970	A	G	COL1A1	c.1113T>C	NM_000088.4	NP_000079.2:p.(Gly371=)	NC_000017.10:g.48272970A>G	(Likely) benign	1 lab	d9f00667e0
11:47361181 MYBPC3 C>T	11	47361181	47361181	C	T	MYBPC3	c.2067+21G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361181C>T	(Likely) benign	1 lab	d9f0651ada
X:107978342 IRS4 T>A	X	107978342	107978342	T	A	IRS4	c.1233A>T	NM_003604.2	NP_003595.1:p.(Arg411=)	NC_000023.10:g.107978342T>A	(Likely) benign	1 lab	d9f0bb0ba0
16:46746657 MYLK3 A>G	16	46746657	46746657	A	G	MYLK3	c.2017T>C	NM_182493.3	NP_872299.2:p.(Phe673Leu)	NC_000016.9:g.46746657A>G	VUS	1 lab	d9f2f66f55
11:6414526 SMPD1 ACTT>A	11	6414526	6414531	ACTT	A	SMPD1	c.1175_1177del	NM_000543.5	NP_000534.3:p.(Phe392del)	NC_000011.9:g.6414529_6414531del	(Likely) pathogenic	1 lab	d9f37992f7
5:89947528 ADGRV1 G>A	5	89947528	89947528	G	A	ADGRV1	c.3397G>A	NM_032119.4	NP_115495.3:p.(Gly1133Arg)	NC_000005.9:g.89947528G>A	VUS	1 lab	d9f93f1bbd
2:179575793 TTN G>A	2	179575793	179575793	G	A	TTN	c.28170C>T	NM_001267550.2	NP_001254479.2:p.(Leu9390=)	NC_000002.11:g.179575793G>A	(Likely) benign	1 lab	d9fc13d1cd
1:218520217 TGFB2 T>G	1	218520217	218520217	T	G	TGFB2	c.174T>G	NM_001135599.4	NP_001129071.1:p.(Pro58=)	NC_000001.10:g.218520217T>G	(Likely) benign	1 lab	d9fc2fb715
7:128496784 FLNC A>C	7	128496784	128496784	A	C	FLNC	c.7385-15A>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496784A>C	(Likely) benign	1 lab	d9fc6989c8
6:32047123 TNXB G>A	6	32047123	32047123	G	A	TNXB	c.4062C>T	NM_019105.8	NP_061978.6:p.(Asp1354=)	NC_000006.11:g.32047123G>A	(Likely) benign	1 lab	d9fc8165ee
19:13356049 CACNA1A C>T	19	13356049	13356049	C	T	CACNA1A	c.4909G>A	NM_023035.3	NP_075461.2:p.(Asp1637Asn)	NC_000019.9:g.13356049C>T	(Likely) pathogenic	1 lab	d9fcea2283
1:180240618 LHX4 C>T	1	180240618	180240618	C	T	LHX4	c.555C>T	NM_033343.4	NP_203129.1:p.(His185=)	NC_000001.10:g.180240618C>T	(Likely) benign	1 lab	da024a81e5
11:116701623 APOC3 T>C	11	116701623	116701623	T	C	APOC3	c.179+11T>C	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701623T>C	(Likely) benign	1 lab	da025e0463
3:197421250 RUBCN G>A	3	197421250	197421250	G	A	RUBCN	c.1545C>T	NM_001145642.4	NP_001139114.1:p.(His515=)	NC_000003.11:g.197421250G>A	(Likely) benign	1 lab	da0531e3d2
3:38739369 SCN10A T>C	3	38739369	38739369	T	C	SCN10A	c.5342A>G	NM_006514.4	NP_006505.4:p.(Asn1781Ser)	NC_000003.11:g.38739369T>C	(Likely) benign	1 lab	da058d5f9e
1:241663902 FH TGAGA>T	1	241663902	241663940	TGAGA	T	FH	c.1237-16_1237-13del	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663937_241663940del	(Likely) benign	1 lab	da0a7df3a2
9:27212761 TEK C>T	9	27212761	27212761	C	T	TEK	c.2743C>T	NM_000459.5	NP_000450.3:p.(Arg915Cys)	NC_000009.11:g.27212761C>T	(Likely) pathogenic	1 lab	da0ac74992
15:85610246 MISSING T>Alt too long to show for this DUP	15	85610246	85728844	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.85610247_85728844dup	VUS	1 lab	da0bdf3f30
9:451973 DOCK8 ATATATTTTTTTTTTTTT>A	9	451973	451991	ATATATTTTTTTTTTTTT	A	DOCK8	c.5962-36_5962-20del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.451975_451991del	(Likely) benign	1 lab	da0ce04499
15:40710476 IVD C>T	15	40710476	40710476	C	T	IVD	c.*14C>T	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40710476C>T	(Likely) benign	1 lab	da0de08dc5
1:150686599 HORMAD1 TA>T	1	150686599	150686609	TA	T	HORMAD1	c.243-3del	NM_032132.5	NP_115508.2:p.?	NC_000001.10:g.150686609del	(Likely) benign	1 lab	da0e1ef50e
11:108114846 ATM GTAATC>G	11	108114846	108114857	GTAATC	G	ATM	c.662+8_662+12del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114853_108114857del	(Likely) benign	1 lab	da0f0a6648
6:118016525 MISSING Ref too long to show for this DEL>C	6	118016525	118040881	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.118016527_118040881del	VUS	1 lab	da18bf3580
3:38620873 SCN5A G>T	3	38620873	38620873	G	T	SCN5A	c.3342C>A	NM_198056.3	NP_932173.1:p.(Asp1114Glu)	NC_000003.11:g.38620873G>T	VUS	1 lab	da1b432ec2
9:103015238 INVS T>C	9	103015238	103015238	T	C	INVS	c.1284T>C	NM_014425.5	NP_055240.2:p.(His428=)	NC_000009.11:g.103015238T>C	(Likely) benign	1 lab	da1c02148e
15:85370842 ALPK3 G>T	15	85370842	85370842	G	T	ALPK3	c.304+6G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85370842G>T	(Likely) benign	1 lab	da1d272b6a
14:23887504 MYH7 A>G	14	23887504	23887504	A	G	MYH7	c.4084T>C	NM_000257.4	NP_000248.2:p.(Ser1362Pro)	NC_000014.8:g.23887504A>G	(Likely) pathogenic	1 lab	da1e1be55b
22:29688460 EWSR1 C>G	22	29688460	29688460	C	G	EWSR1	c.1061-17C>G	NM_013986.4	NP_053733.2:p.?	NC_000022.10:g.29688460C>G	(Likely) benign	1 lab	da1fd6fd13
8:144998514 PLEC C>T	8	144998514	144998514	C	T	PLEC	c.5994G>A	NM_201380.4	NP_958782.1:p.(Ala1998=)	NC_000008.10:g.144998514C>T	(Likely) benign	1 lab	da1fedc8d5
14:68191969 RDH12 C>A	14	68191969	68191969	C	A	RDH12	c.341C>A	NM_152443.3	NP_689656.2:p.(Ala114Glu)	NC_000014.8:g.68191969C>A	VUS	1 lab	da20121eba
2:15307493 NBAS T>C	2	15307493	15307493	T	C	NBAS	c.6841-46A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15307493T>C	(Likely) benign	1 lab	da235db859
4:79410122 FRAS1 A>T	4	79410122	79410122	A	T	FRAS1	c.8846A>T	NM_025074.7	NP_079350.5:p.(Tyr2949Phe)	NC_000004.11:g.79410122A>T	VUS	1 lab	da241a2a3e
11:65310518 LTBP3 C>G	11	65310518	65310518	C	G	LTBP3	c.2596+58G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65310518C>G	(Likely) benign	1 lab	da2433d640
1:155649286 YY1AP1 T>A	1	155649286	155649286	T	A	YY1AP1	c.453A>T	NM_001198903.1	NP_001185832.1:p.(Gly151=)	NC_000001.10:g.155649286T>A	(Likely) benign	1 lab	da25927b34
1:111674153 DRAM2 G>A	1	111674153	111674153	G	A	DRAM2	c.24C>T	NM_001349881.2	NP_001336810.1:p.(Leu8=)	NC_000001.10:g.111674153G>A	(Likely) benign	1 lab	da28e7f067
1:12071599 MFN2 C>T	1	12071599	12071599	C	T	MFN2	c.2251C>T	NM_014874.4	NP_055689.1:p.(Gln751Ter)	NC_000001.10:g.12071599C>T	(Likely) pathogenic	1 lab	da2d5d1e91
4:6303082 WFS1 G>A	4	6303082	6303082	G	A	WFS1	c.1560G>A	NM_006005.3	NP_005996.2:p.(Gln520=)	NC_000004.11:g.6303082G>A	(Likely) benign	1 lab	da2f610595
6:16129590 MYLIP A>G	6	16129590	16129590	A	G	MYLIP	c.37A>G	NM_013262.4	NP_037394.2:p.(Met13Val)	NC_000006.11:g.16129590A>G	VUS	1 lab	da2fa0c080
2:44102328 ABCG8 A>G	2	44102328	44102328	A	G	ABCG8	c.1532A>G	NM_022437.3	NP_071882.1:p.(Tyr511Cys)	NC_000002.11:g.44102328A>G	VUS	1 lab	da2fd74906
X:139586482 SOX3 GGCGGCAGCGGCTGCGGCC>G	X	139586482	139586511	GGCGGCAGCGGCTGCGGCC	G	SOX3	c.726_743del	NM_005634.3	NP_005625.2:p.(Ala243_Ala248del)	NC_000023.10:g.139586494_139586511del	(Likely) benign	1 lab	da315ac6dc
9:137715087 COL5A1 T>G	9	137715087	137715087	T	G	COL5A1	c.4645-175T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137715087T>G	(Likely) benign	1 lab	da33fb9c5a
10:25267033 MISSING A>Alt too long to show for this DUP	10	25267033	25297559	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.25267034_25297559dup	VUS	1 lab	da34c5141b
10:102584407 PAX2 C>T	10	102584407	102584407	C	T	PAX2	c.922C>T	NM_003988.5	NP_003979.2:p.(Arg308Cys)	NC_000010.10:g.102584407C>T	VUS	1 lab	da355d545f
2:5833838 SOX11 C>A	2	5833838	5833838	C	A	SOX11	c.985C>A	NM_003108.4	NP_003099.1:p.(Pro329Thr)	NC_000002.11:g.5833838C>A	VUS	1 lab	da37c3288f
10:95360792 RBP4 C>G	10	95360792	95360792	C	G	RBP4	c.-7G>C	NM_001323517.1	NP_001310446.1:p.?	NC_000010.10:g.95360792C>G	(Likely) benign	1 lab	da3876d2da
7:140449071 BRAF C>G	7	140449071	140449071	C	G	BRAF	c.1992+16G>C	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140449071C>G	(Likely) benign	1 lab	da389fd07a
2:179424482 TTN T>C	2	179424482	179424482	T	C	TTN	c.86377A>G	NM_001267550.2	NP_001254479.2:p.(Thr28793Ala)	NC_000002.11:g.179424482T>C	VUS	1 lab	da3b5c56f7
12:21375331 SLCO1B1 A>T	12	21375331	21375331	A	T	SLCO1B1	c.1747+33A>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375331A>T	(Likely) benign	1 lab	da3c455964
18:45445228 SMAD2 Ref too long to show for this DEL>A	18	45445228	45448636	Ref too long to show for this DEL	A	SMAD2	c.-54+8097_-54+11503del	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45445230_45448636del	VUS	1 lab	da3d9c3c8e
2:69741633 AAK1 G>C	2	69741633	69741633	G	C	AAK1	c.1746C>G	NM_014911.5	NP_055726.4:p.(Ala582=)	NC_000002.11:g.69741633G>C	(Likely) benign	1 lab	da412a32fd
15:58840605 LIPC G>A	15	58840605	58840605	G	A	LIPC	c.885G>A	NM_000236.3	NP_000227.2:p.(Thr295=)	NC_000015.9:g.58840605G>A	(Likely) benign	1 lab	da433236a9
12:33010977 PKP2 C>T	12	33010977	33010977	C	T	PKP2	c.1171-7070G>A	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.33010977C>T	(Likely) benign	1 lab	da4420c4e9
17:8192403 SLC25A35 C>T	17	8192403	8192403	C	T	SLC25A35	c.*531G>A	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192403C>T	(Likely) benign	1 lab	da46a5a4ca
11:95574829 MTMR2 C>T	11	95574829	95574829	C	T	MTMR2	c.1215G>A	NM_001243571.2	NP_001230500.1:p.(Ser405=)	NC_000011.9:g.95574829C>T	(Likely) benign	1 lab	da49e0e7d4
3:78717699 ROBO1 C>T	3	78717699	78717699	C	T	ROBO1	c.1457G>A	NM_133631.4	NP_598334.2:p.(Arg486Gln)	NC_000003.11:g.78717699C>T	(Likely) benign	1 lab	da4ba5d867
12:125298787 SCARB1 G>T	12	125298787	125298787	G	T	SCARB1	c.591C>A	NM_001367981.1	NP_001354910.1:p.(Gly197=)	NC_000012.11:g.125298787G>T	(Likely) benign	1 lab	da4d3ca996
11:47370459 MYBPC3 T>TTATATACATATATA	11	47370459	47370466	T	TTATATACATATATA	MYBPC3	c.655-368_655-367insTATATATGTATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370465_47370466insCATATATATATATA	(Likely) benign	1 lab	da4dcfbe04
22:24108450 CHCHD10 C>G	22	24108450	24108450	C	G	CHCHD10	c.295G>C	NM_001301339.2	NP_001288268.1:p.(Ala99Pro)	NC_000022.10:g.24108450C>G	(Likely) benign	1 lab	da4e580e0e
2:135214352 TMEM163 A>G	2	135214352	135214352	A	G	TMEM163	c.810-5T>C	NM_030923.5	NP_112185.1:p.?	NC_000002.11:g.135214352A>G	(Likely) benign	1 lab	da4fa34b16
4:123818776 NUDT6 Ref too long to show for this DEL>C	4	123818776	123846534	Ref too long to show for this DEL	C	NUDT6				NC_000004.11:g.123818779_123846534del	VUS	1 lab	da5311f735
11:47358027 MYBPC3 C>T	11	47358027	47358027	C	T	MYBPC3	c.2603-465G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358027C>T	(Likely) benign	1 lab	da54233a85
5:133948364 SAR1B A>T	5	133948364	133948364	A	T	SAR1B	c.244+17T>A	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948364A>T	(Likely) benign	1 lab	da5476a761
12:50502917 GPD1 CA>C	12	50502917	50502941	CA	C	GPD1	c.954-265del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502941del	(Likely) benign	1 lab	da554951d5
X:38145555 RPGR TTCC>T	X	38145555	38145563	TTCC	T	RPGR	c.2694_2696del	NM_001034853.2	NP_001030025.1:p.(Glu899del)	NC_000023.10:g.38145561_38145563del	(Likely) benign	1 lab	da5dddf625
6:150716697 IYD G>A	6	150716697	150716697	G	A	IYD	c.794G>A	NM_001164694.2	NP_001158166.1:p.(Cys265Tyr)	NC_000006.11:g.150716697G>A	(Likely) benign	1 lab	da5eaa688f
16:21286927 CRYM A>G	16	21286927	21286927	A	G	CRYM	c.325-12T>C	NM_001888.5	NP_001879.1:p.?	NC_000016.9:g.21286927A>G	(Likely) benign	1 lab	da5eec0224
10:90981905 LIPA G>GA	10	90981905	90981908	G	GA	LIPA	c.894+362dup	NM_001127605.3	NP_001121077.1:p.?	NC_000010.10:g.90981908dup	(Likely) benign	1 lab	da60b55415
9:35717131 TLN1 T>C	9	35717131	35717131	T	C	TLN1	c.2458+12A>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35717131T>C	(Likely) benign	1 lab	da641c8fb8
17:48273687 COL1A1 G>A	17	48273687	48273687	G	A	COL1A1	c.945C>T	NM_000088.4	NP_000079.2:p.(Ala315=)	NC_000017.10:g.48273687G>A	(Likely) benign	1 lab	da64f41560
16:57004889 CETP G>A	16	57004889	57004889	G	A	CETP	c.528-56G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57004889G>A	(Likely) benign	1 lab	da65a865f5
7:16445900 CRPPA C>A	7	16445900	16445900	C	A	CRPPA	c.320G>T	NM_001101426.4	NP_001094896.1:p.(Ser107Ile)	NC_000007.13:g.16445900C>A	VUS	1 lab	da65acb129
11:47359839 MYBPC3 C>T	11	47359839	47359839	C	T	MYBPC3	c.2308+232G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359839C>T	(Likely) benign	1 lab	da663b1442
9:131862194 CRAT C>T	9	131862194	131862194	C	T	CRAT	c.973G>A	NM_001257363.3	NP_001244292.2:p.(Ala325Thr)	NC_000009.11:g.131862194C>T	VUS	1 lab	da672e59e7
16:1005032 LMF1 TAC>T	16	1005032	1005045	TAC	T	LMF1	c.-361-368_-361-367del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005044_1005045del	(Likely) benign	1 lab	da6b66fab1
6:75887797 COL12A1 G>A	6	75887797	75887797	G	A	COL12A1	c.2165-146C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75887797G>A	(Likely) benign	1 lab	da6cc7aa51
3:46589299 LRRC2 Ref too long to show for this DEL>T	3	46589299	46595047	Ref too long to show for this DEL	T	LRRC2	c.-19-1947_126-2557del	NM_024512.5	NP_078788.2:p.?	NC_000003.11:g.46589300_46595047del	VUS	1 lab	da70d40602
3:38991566 SCN11A C>CA	3	38991566	38991567	C	CA	SCN11A	c.267+20_267+21insT	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991566_38991567insA	(Likely) benign	1 lab	da7490ad77
X:140993990 MAGEC1 C>T	X	140993990	140993990	C	T	MAGEC1	c.800C>T	NM_005462.5	NP_005453.2:p.(Ser267Phe)	NC_000023.10:g.140993990C>T	(Likely) benign	1 lab	da7526efeb
2:47698201 MSH2 G>A	2	47698201	47698201	G	A	MSH2	c.1759G>A	NM_000251.3	NP_000242.1:p.(Gly587Ser)	NC_000002.11:g.47698201G>A	(Likely) pathogenic	1 lab	da75cd9e84
11:118307413 KMT2A CGCG>C	11	118307413	118307429	CGCG	C	KMT2A	c.200_202del	NM_001197104.2	NP_001184033.1:p.(Ala67del)	NC_000011.9:g.118307427_118307429del	(Likely) benign	1 lab	da77d5f006
3:43121617 POMGNT2 CAG>C	3	43121617	43121622	CAG	C	POMGNT2	c.1305_1306del	NM_032806.6	NP_116195.2:p.(Cys436LeufsTer77)	NC_000003.11:g.43121621_43121622del	(Likely) pathogenic	1 lab	da787cdc1e
9:116044950 PRPF4 C>G	9	116044950	116044950	C	G	PRPF4	c.420C>G	NM_004697.5	NP_004688.2:p.(Val140=)	NC_000009.11:g.116044950C>G	(Likely) benign	1 lab	da7c5a0c49
19:55341707 KIR3DL1 TC>T	19	55341707	55341709	TC	T	KIR3DL1	c.1314del	NM_013289.3	NP_037421.2:p.(Val440LeufsTer38)	NC_000019.9:g.55341709del	(Likely) benign	1 lab	da7ec153eb
15:22752397 MISSING Ref too long to show for this DEL>C	15	22752397	23282905	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22752399_23282905del	(Likely) pathogenic	1 lab	da81637942
2:44100995 ABCG8 G>A	2	44100995	44100995	G	A	ABCG8	c.1281G>A	NM_022437.3	NP_071882.1:p.(Met427Ile)	NC_000002.11:g.44100995G>A	VUS	1 lab	da82b80993
20:42744535 JPH2 A>T	20	42744535	42744535	A	T	JPH2	c.1780T>A	NM_020433.5	NP_065166.2:p.(Ser594Thr)	NC_000020.10:g.42744535A>T	VUS	1 lab	da8386e916
16:57016167 CETP G>A	16	57016167	57016167	G	A	CETP	c.1321+18G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57016167G>A	(Likely) benign	1 lab	da83c177a7
2:37334670 EIF2AK2 ACTGG>A	2	37334670	37334674	ACTGG	A	EIF2AK2	c.1480-4_1480-1del	NM_002759.4	NP_002750.1:p.?	NC_000002.11:g.37334671_37334674del	(Likely) benign	1 lab	da87978316
14:21769162 RPGRIP1 C>T	14	21769162	21769162	C	T	RPGRIP1	c.256C>T	NM_020366.4	NP_065099.3:p.(Arg86Trp)	NC_000014.8:g.21769162C>T	(Likely) benign	1 lab	da8dcb732d
1:66070925 LEPR G>T	1	66070925	66070925	G	T	LEPR	c.1603+5G>T	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66070925G>T	(Likely) pathogenic	1 lab	da90039a02
1:74808796 TNNI3K A>G	1	74808796	74808796	A	G	TNNI3K	c.865A>G	NM_015978.3	NP_057062.1:p.(Ile289Val)	NC_000001.10:g.74808796A>G	VUS	1 lab	da916a384d
19:11220889 LDLR C>G	19	11220889	11220889	C	G	LDLR	c.941-439C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11220889C>G	(Likely) benign	1 lab	da91d93091
5:127670555 FBN2 A>G	5	127670555	127670555	A	G	FBN2	c.3974-19T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127670555A>G	(Likely) benign	1 lab	da92508fb7
X:153581791 FLNA G>A	X	153581791	153581791	G	A	FLNA	c.5895C>T	NM_001110556.2	NP_001104026.1:p.(Val1965=)	NC_000023.10:g.153581791G>A	(Likely) benign	1 lab	da949b766d
16:88782079 PIEZO1 G>A	16	88782079	88782079	G	A	PIEZO1	c.7500C>T	NM_001142864.4	NP_001136336.2:p.(Tyr2500=)	NC_000016.9:g.88782079G>A	(Likely) benign	1 lab	da9577453d
8:38880804 ADAM9 C>T	8	38880804	38880804	C	T	ADAM9	c.874C>T	NM_003816.3	NP_003807.1:p.(Leu292Phe)	NC_000008.10:g.38880804C>T	(Likely) benign	1 lab	daaa6fa0b0
X:70443591 GJB1 G>A	X	70443591	70443591	G	A	GJB1	c.34G>A	NM_000166.6	NP_000157.1:p.(Gly12Ser)	NC_000023.10:g.70443591G>A	(Likely) pathogenic	1 lab	da98f81a07
15:58838103 LIPC A>ACG	15	58838103	58838105	A	ACG	LIPC	c.738_739dup	NM_000236.3	NP_000227.2:p.(Gly247AlafsTer12)	NC_000015.9:g.58838104_58838105dup	VUS	1 lab	da9c1732a1
2:21226209 APOB A>G	2	21226209	21226209	A	G	APOB	c.12088-3T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226209A>G	(Likely) benign	1 lab	da9c2bc368
13:115054545 UPF3A Ref too long to show for this DEL>T	13	115054545	115066166	Ref too long to show for this DEL	T	UPF3A	c.632-2414_1008-1040del	NM_023011.4	NP_075387.1:p.?	NC_000013.10:g.115054550_115066166del	VUS	1 lab	da9cf56499
2:211525133 MISSING G>Alt too long to show for this DUP	2	211525133	211993724	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.211525135_211993724dup	VUS	1 lab	da9d17cc53
16:88496692 ZNF469 G>A	16	88496692	88496692	G	A	ZNF469	c.2814G>A	NM_001367624.2	NP_001354553.1:p.(Ala938=)	NC_000016.9:g.88496692G>A	(Likely) benign	1 lab	da9e315dec
2:179447688 TTN T>C	2	179447688	179447688	T	C	TTN	c.65842A>G	NM_001267550.2	NP_001254479.2:p.(Thr21948Ala)	NC_000002.11:g.179447688T>C	VUS	1 lab	daa2ec1705
2:44065788 ABCG5 C>T	2	44065788	44065788	C	T	ABCG5	c.31G>A	NM_022436.3	NP_071881.1:p.(Gly11Arg)	NC_000002.11:g.44065788C>T	VUS	1 lab	daa2f858f4
19:40902062 PRX G>A	19	40902062	40902062	G	A	PRX	c.2197C>T	NM_181882.3	NP_870998.2:p.(Pro733Ser)	NC_000019.9:g.40902062G>A	VUS	1 lab	daac168f77
12:5154110 KCNA5 C>T	12	5154110	5154110	C	T	KCNA5	c.797C>T	NM_002234.4	NP_002225.2:p.(Thr266Ile)	NC_000012.11:g.5154110C>T	VUS	1 lab	daad63fdb9
19:50322495 MED25 C>G	19	50322495	50322495	C	G	MED25	c.247C>G	NM_030973.4	NP_112235.2:p.(Gln83Glu)	NC_000019.9:g.50322495C>G	VUS	1 lab	daadf7e926
11:68115666 LRP5 A>C	11	68115666	68115666	A	C	LRP5	c.443A>C	NM_002335.4	NP_002326.2:p.(Gln148Pro)	NC_000011.9:g.68115666A>C	VUS	1 lab	dab13eebee
X:63252474 MISSING C>Alt too long to show for this DUP	X	63252474	63416517	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.63252475_63416517dup	VUS	1 lab	dab3bd4af6
19:50727416 MYH14 C>A	19	50727416	50727416	C	A	MYH14	c.699C>A	NM_001145809.2	NP_001139281.1:p.(Ser233=)	NC_000019.9:g.50727416C>A	(Likely) benign	1 lab	dacab4d59a
X:70443594 GJB1 G>T	X	70443594	70443594	G	T	GJB1	c.37G>T	NM_000166.6	NP_000157.1:p.(Val13Leu)	NC_000023.10:g.70443594G>T	(Likely) pathogenic	1 lab	dab51fd5a8
15:63356271 TPM1 T>C	15	63356271	63356271	T	C	TPM1	c.781T>C	NM_000366.6	NP_000357.3:p.(Tyr261His)	NC_000015.9:g.63356271T>C	VUS	1 lab	dab78dd990
12:125296400 SCARB1 G>A	12	125296400	125296400	G	A	SCARB1	c.726+16C>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296400G>A	VUS	1 lab	dabb8069d2
2:179440723 TTN G>A	2	179440723	179440723	G	A	TTN	c.70136C>T	NM_001267550.2	NP_001254479.2:p.(Thr23379Ile)	NC_000002.11:g.179440723G>A	VUS	1 lab	dabd0fbb34
12:117968784 KSR2 C>T	12	117968784	117968784	C	T	KSR2	c.1764G>A	NM_173598.6	NP_775869.4:p.(Ala588=)	NC_000012.11:g.117968784C>T	(Likely) benign	1 lab	dabf3c29e9
7:100402794 EPHB4 G>A	7	100402794	100402794	G	A	EPHB4	c.2828C>T	NM_004444.5	NP_004435.3:p.(Ser943Phe)	NC_000007.13:g.100402794G>A	VUS	1 lab	dac2250985
14:76447208 TGFB3 AC>A	14	76447208	76447210	AC	A	TGFB3	c.28del	NM_003239.5	NP_003230.1:p.(Val10TrpfsTer6)	NC_000014.8:g.76447210del	(Likely) pathogenic	1 lab	dac287be7d
12:32754253 FGD4 G>A	12	32754253	32754253	G	A	FGD4	c.732G>A	NM_139241.3	NP_640334.2:p.(Ser244=)	NC_000012.11:g.32754253G>A	(Likely) benign	1 lab	dac44187b7
12:31237978 DDX11 C>T	12	31237978	31237978	C	T	DDX11	c.556C>T	NM_030653.4	NP_085911.2:p.(Arg186Trp)	NC_000012.11:g.31237978C>T	(Likely) benign	1 lab	dac5126a03
8:19818460 LPL G>A	8	19818460	19818460	G	A	LPL	c.1188G>A	NM_000237.3	NP_000228.1:p.(Glu396=)	NC_000008.10:g.19818460G>A	(Likely) benign	1 lab	dac64da2c1
1:66058523 LEPR A>G	1	66058523	66058523	A	G	LEPR	c.678A>G	NM_001003679.3	NP_001003679.1:p.(Leu226=)	NC_000001.10:g.66058523A>G	(Likely) benign	1 lab	dac6aabbb7
12:1919696 CACNA2D4 G>A	12	1919696	1919696	G	A	CACNA2D4	c.2658+13C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1919696G>A	(Likely) benign	1 lab	dacc13bbf8
6:32021358 TNXB G>A	6	32021358	32021358	G	A	TNXB	c.8592C>T	NM_019105.8	NP_061978.6:p.(Val2864=)	NC_000006.11:g.32021358G>A	(Likely) benign	1 lab	dacd8fa0cc
15:72637802 HEXA C>T	15	72637802	72637802	C	T	HEXA	c.1511G>A	NM_000520.6	NP_000511.2:p.(Arg504His)	NC_000015.9:g.72637802C>T	(Likely) pathogenic	1 lab	dad0401bb0
9:107558339 ABCA1 C>T	9	107558339	107558339	C	T	ABCA1	c.5377G>A	NM_005502.4	NP_005493.2:p.(Asp1793Asn)	NC_000009.11:g.107558339C>T	(Likely) benign	1 lab	dad223e54b
3:179123094 GNB4 T>C	3	179123094	179123094	T	C	GNB4	c.800A>G	NM_021629.4	NP_067642.1:p.(Asp267Gly)	NC_000003.11:g.179123094T>C	VUS	1 lab	dad2dabea4
7:130396675 MISSING Ref too long to show for this DEL>A	7	130396675	130419633	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.130396677_130419633del	VUS	1 lab	dad3da9520
16:20991458 DNAH3 G>Alt too long to show for this DUP	16	20991458	21053952	G	Alt too long to show for this DUP	DNAH3	c.4324-425_7722-591dup	NM_001347886.2	NP_001334815.1:p.?	NC_000016.9:g.20991461_21053952dup	VUS	1 lab	dad83330ad
11:47356416 MYBPC3 C>A	11	47356416	47356416	C	A	MYBPC3	c.2905+177G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356416C>A	(Likely) benign	1 lab	dad9009c35
1:155630698 YY1AP1 G>A	1	155630698	155630698	G	A	YY1AP1	c.1417C>T	NM_001198903.1	NP_001185832.1:p.(Leu473=)	NC_000001.10:g.155630698G>A	(Likely) benign	1 lab	dad9a1f44b
16:71218830 HYDIN G>T	16	71218830	71218830	G	T	HYDIN	c.199C>A	NM_001270974.2	NP_001257903.1:p.(Arg67Ser)	NC_000016.9:g.71218830G>T	VUS	1 lab	dadb402fc4
2:73677687 ALMS1 C>T	2	73677687	73677687	C	T	ALMS1	c.4036C>T	NM_015120.4	NP_055935.4:p.(Gln1346Ter)	NC_000002.11:g.73677687C>T	(Likely) pathogenic	1 lab	dadbb420e8
X:74641791 ZDHHC15 T>C	X	74641791	74641791	T	C	ZDHHC15	c.771A>G	NM_144969.3	NP_659406.1:p.(Pro257=)	NC_000023.10:g.74641791T>C	(Likely) benign	1 lab	dae12b5ad2
2:179428388 TTN C>A	2	179428388	179428388	C	A	TTN	c.82471G>T	NM_001267550.2	NP_001254479.2:p.(Ala27491Ser)	NC_000002.11:g.179428388C>A	VUS	1 lab	dae1aad851
6:56481632 DST T>C	6	56481632	56481632	T	C	DST	c.6633A>G	NM_001723.7	NP_001714.1:p.(Ala2211=)	NC_000006.11:g.56481632T>C	(Likely) benign	1 lab	daea81eecc
X:153492839 OPN1MW2 C>T	X	153492839	153492839	C	T	OPN1MW2	c.578+10C>T	NM_001048181.2	NP_001041646.1:p.?	NC_000023.10:g.153492839C>T	(Likely) benign	1 lab	daeaa45df4
14:21788158 RPGRIP1 T>G	14	21788158	21788158	T	G	RPGRIP1	c.1307-18T>G	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21788158T>G	(Likely) benign	1 lab	daecb9964e
X:70443625 GJB1 T>A	X	70443625	70443625	T	A	GJB1	c.68T>A	NM_000166.6	NP_000157.1:p.(Val23Glu)	NC_000023.10:g.70443625T>A	(Likely) pathogenic	1 lab	daef760868
15:48936817 FBN1 G>A	15	48936817	48936817	G	A	FBN1	c.150C>T	NM_000138.5	NP_000129.3:p.(His50=)	NC_000015.9:g.48936817G>A	(Likely) benign	1 lab	daf01c5fe0
2:179605102 TTN G>A	2	179605102	179605102	G	A	TTN	c.12858C>T	NM_001267550.2	NP_001254479.2:p.(Asn4286=)	NC_000002.11:g.179605102G>A	VUS	1 lab	daf670b4d5
X:70444180 GJB1 A>G	X	70444180	70444180	A	G	GJB1	c.623A>G	NM_000166.6	NP_000157.1:p.(Glu208Gly)	NC_000023.10:g.70444180A>G	(Likely) pathogenic	1 lab	daf8716bcf
4:177650866 VEGFC C>T	4	177650866	177650866	C	T	VEGFC	c.182G>A	NM_005429.5	NP_005420.1:p.(Arg61Gln)	NC_000004.11:g.177650866C>T	(Likely) benign	1 lab	daf879e725
1:45259063 MISSING C>Alt too long to show for this DUP	1	45259063	45524101	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.45259064_45524101dup	(Likely) pathogenic	1 lab	daf8f07210
18:47093979 LIPG C>T	18	47093979	47093979	C	T	LIPG	c.447C>T	NM_006033.4	NP_006024.1:p.(Leu149=)	NC_000018.9:g.47093979C>T	VUS	1 lab	dafad29e3f
X:70442930 GJB1 G>A	X	70442930	70442930	G	A	GJB1	c.-16-612G>A	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70442930G>A	(Likely) benign	1 lab	dafb2d4a0b
11:65315749 LTBP3 C>T	11	65315749	65315749	C	T	LTBP3	c.1721-233G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65315749C>T	(Likely) benign	1 lab	dafd9a1ed0
12:8672809 CLEC4D C>T	12	8672809	8672809	C	T	CLEC4D	c.385-13C>T	NM_080387.5	NP_525126.2:p.?	NC_000012.11:g.8672809C>T	(Likely) benign	1 lab	db010a1fcc
19:49700020 TRPM4 C>T	19	49700020	49700020	C	T	TRPM4	c.2534C>T	NM_017636.4	NP_060106.2:p.(Pro845Leu)	NC_000019.9:g.49700020C>T	(Likely) benign	1 lab	db01bdc280
X:70444112 GJB1 C>CG	X	70444112	70444113	C	CG	GJB1	c.556dup	NM_000166.6	NP_000157.1:p.(Glu186GlyfsTer57)	NC_000023.10:g.70444113dup	(Likely) pathogenic	1 lab	db02735b4c
17:62034569 SCN4A T>A	17	62034569	62034569	T	A	SCN4A	c.2329A>T	NM_000334.4	NP_000325.4:p.(Met777Leu)	NC_000017.10:g.62034569T>A	VUS	1 lab	db02c481af
11:119149240 CBL T>C	11	119149240	119149240	T	C	CBL	c.1248T>C	NM_005188.4	NP_005179.2:p.(Cys416=)	NC_000011.9:g.119149240T>C	(Likely) benign	1 lab	db054ae3ec
18:56940307 RAX G>T	18	56940307	56940307	G	T	RAX	c.132C>A	NM_013435.3	NP_038463.2:p.(Asp44Glu)	NC_000018.9:g.56940307G>T	(Likely) benign	1 lab	db06d2776d
18:29121162 DSG2 C>A	18	29121162	29121162	C	A	DSG2	c.1886C>A	NM_001943.5	NP_001934.2:p.(Pro629Gln)	NC_000018.9:g.29121162C>A	VUS	1 lab	db0925f4f7
2:121712927 GLI2 G>A	2	121712927	121712927	G	A	GLI2	c.564G>A	NM_005270.5	NP_005261.2:p.(Ala188=)	NC_000002.11:g.121712927G>A	(Likely) benign	1 lab	db09c013cc
17:14087932 MISSING Ref too long to show for this DEL>T	17	14087932	15473312	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14087934_15473312del	(Likely) pathogenic	1 lab	db0b608c8e
15:45448081 DUOX1 G>A	15	45448081	45448081	G	A	DUOX1	c.3656G>A	NM_017434.5	NP_059130.2:p.(Arg1219Gln)	NC_000015.9:g.45448081G>A	(Likely) benign	1 lab	db0e639425
17:10541165 MYH3 C>T	17	10541165	10541165	C	T	MYH3	c.3817G>A	NM_002470.4	NP_002461.2:p.(Glu1273Lys)	NC_000017.10:g.10541165C>T	VUS	1 lab	db12c0e88d
14:21762924 RPGRIP1 GT>G	14	21762924	21762926	GT	G	RPGRIP1	c.176del	NM_020366.4	NP_065099.3:p.(Leu59TrpfsTer2)	NC_000014.8:g.21762926del	(Likely) pathogenic	1 lab	db139b49a9
3:123333216 MYLK C>T	3	123333216	123333216	C	T	MYLK	c.5501-20G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123333216C>T	(Likely) benign	1 lab	db13e5ba87
6:123580762 TRDN T>C	6	123580762	123580762	T	C	TRDN	c.1870+7A>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123580762T>C	(Likely) benign	1 lab	db146930a2
X:9679673 TBL1X C>T	X	9679673	9679673	C	T	TBL1X	c.1462C>T	NM_005647.4	NP_005638.1:p.(Arg488Ter)	NC_000023.10:g.9679673C>T	(Likely) pathogenic	1 lab	db1524e7e5
3:38991569 SCN11A C>G	3	38991569	38991569	C	G	SCN11A	c.267+18G>C	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991569C>G	(Likely) benign	1 lab	db155d482e
6:10529193 GCNT2 Ref too long to show for this DEL>G	6	10529193	10601702	Ref too long to show for this DEL	G	GCNT2	c.50_926-19882del	NM_145649.5	NP_663624.1:p.?	NC_000006.11:g.10529194_10601702del	VUS	1 lab	db157cd584
8:19796570 LPL G>A	8	19796570	19796570	G	A	LPL				NC_000008.10:g.19796570G>A	(Likely) benign	1 lab	db16468841
2:21229756 APOB A>G	2	21229756	21229756	A	G	APOB	c.9984T>C	NM_000384.3	NP_000375.3:p.(His3328=)	NC_000002.11:g.21229756A>G	(Likely) benign	1 lab	db1664e0e8
X:23411267 PTCHD1 CCAGCAAAAGTACTT>C	X	23411267	23411287	CCAGCAAAAGTACTT	C	PTCHD1	c.1639_1652del	NM_173495.3	NP_775766.2:p.(Lys547LeufsTer11)	NC_000023.10:g.23411274_23411287del	(Likely) pathogenic	1 lab	db19b5c913
11:47370459 MYBPC3 TTATA>T	11	47370459	47370478	TTATA	T	MYBPC3	c.655-371_655-368del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370475_47370478del	(Likely) benign	1 lab	db19c38801
2:179595463 TTN C>A	2	179595463	179595463	C	A	TTN	c.17797G>T	NM_001267550.2	NP_001254479.2:p.(Gly5933Cys)	NC_000002.11:g.179595463C>A	VUS	1 lab	db1a5cfc36
8:144945943 EPPK1 C>G	8	144945943	144945943	C	G	EPPK1	c.1479G>C	NM_031308.4	NP_112598.3:p.(Thr493=)	NC_000008.10:g.144945943C>G	(Likely) benign	1 lab	db1a8f62a7
8:59405036 CYP7A1 C>T	8	59405036	59405036	C	T	CYP7A1	c.1091G>A	NM_000780.4	NP_000771.2:p.(Arg364Gln)	NC_000008.10:g.59405036C>T	VUS	1 lab	db1ad33bb4
2:179539785 TTN C>T	2	179539785	179539785	C	T	TTN	c.34593G>A	NM_001267550.2	NP_001254479.2:p.(Glu11531=)	NC_000002.11:g.179539785C>T	(Likely) benign	1 lab	db1cb657b4
22:29115458 CHEK2 T>C	22	29115458	29115458	T	C	CHEK2	c.608A>G	NM_007194.4	NP_009125.1:p.(Asp203Gly)	NC_000022.10:g.29115458T>C	VUS	1 lab	db1eec0518
1:74905176 TNNI3K C>A	1	74905176	74905176	C	A	TNNI3K	c.1881C>A	NM_015978.3	NP_057062.1:p.(Asn627Lys)	NC_000001.10:g.74905176C>A	VUS	1 lab	db20f5b310
16:81348764 GAN C>T	16	81348764	81348764	C	T	GAN	c.46C>T	NM_022041.4	NP_071324.1:p.(Leu16=)	NC_000016.9:g.81348764C>T	(Likely) benign	1 lab	db2147110e
4:122765070 BBS7 A>G	4	122765070	122765070	A	G	BBS7	c.1305+12T>C	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122765070A>G	(Likely) benign	1 lab	db25ad14c5
17:66352789 ARSG G>T	17	66352789	66352789	G	T	ARSG	c.567-19G>T	NM_001352903.2	NP_001339832.1:p.?	NC_000017.10:g.66352789G>T	(Likely) benign	1 lab	db26880059
5:37122575 CPLANE1 T>G	5	37122575	37122575	T	G	CPLANE1	c.8812A>C	NM_023073.4	NP_075561.3:p.(Arg2938=)	NC_000005.9:g.37122575T>G	(Likely) benign	1 lab	db29ce9282
19:11223952 LDLR AG>A	19	11223952	11223954	AG	A	LDLR	c.1187del	NM_000527.5	NP_000518.1:p.(Gly396AlafsTer17)	NC_000019.9:g.11223954del	(Likely) pathogenic	1 lab	db2a2d56b4
17:71202886 COG1 G>GC	17	71202886	71202892	G	GC	COG1	c.2665dup	NM_018714.3	NP_061184.1:p.(Arg889ProfsTer12)	NC_000017.10:g.71202892dup	(Likely) pathogenic	1 lab	db2c987574
2:179435603 TTN C>T	2	179435603	179435603	C	T	TTN	c.75256G>A	NM_001267550.2	NP_001254479.2:p.(Ala25086Thr)	NC_000002.11:g.179435603C>T	VUS	1 lab	db2e3497f1
16:67199428 HSF4 G>C	16	67199428	67199428	G	C	HSF4	c.127G>C	NM_001040667.3	NP_001035757.1:p.(Gly43Arg)	NC_000016.9:g.67199428G>C	VUS	1 lab	db2f9ef008
1:94543277 ABCA4 C>T	1	94543277	94543277	C	T	ABCA4	c.1523G>A	NM_000350.3	NP_000341.2:p.(Arg508His)	NC_000001.10:g.94543277C>T	VUS	1 lab	db359c2f0d
9:107624209 ABCA1 C>T	9	107624209	107624209	C	T	ABCA1	c.422-128G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624209C>T	(Likely) benign	1 lab	db35c4a855
X:53296224 IQSEC2 TCTC>T	X	53296224	53296242	TCTC	T	IQSEC2	c.142_144del	NM_001243197.2	NP_001230126.1:p.(Glu48del)	NC_000023.10:g.53296240_53296242del	(Likely) benign	1 lab	db38427ab2
19:11200177 LDLR A>G	19	11200177	11200177	A	G	LDLR	c.-48A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200177A>G	VUS	1 lab	db39b024b6
2:220492729 SLC4A3 G>C	2	220492729	220492729	G	C	SLC4A3	c.15G>C	NM_001326559.2	NP_001313488.2:p.(Val5=)	NC_000002.11:g.220492729G>C	(Likely) benign	1 lab	db3b6c020c
8:19809264 LPL G>T	8	19809264	19809264	G	T	LPL	c.250-16G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809264G>T	(Likely) benign	1 lab	db3bfe4239
11:26993197 MISSING Ref too long to show for this DEL>T	11	26993197	27240904	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.26993198_27240904del	VUS	1 lab	db3c0717df
8:19818771 LPL AG>A	8	19818771	19818780	AG	A	LPL	c.1322+186del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818780del	(Likely) benign	1 lab	db42b46a28
17:10546229 MYH3 G>C	17	10546229	10546229	G	C	MYH3	c.1495C>G	NM_002470.4	NP_002461.2:p.(Gln499Glu)	NC_000017.10:g.10546229G>C	(Likely) pathogenic	1 lab	db482018a3
3:49692929 BSN G>A	3	49692929	49692929	G	A	BSN	c.5940G>A	NM_003458.4	NP_003449.2:p.(Leu1980=)	NC_000003.11:g.49692929G>A	(Likely) benign	1 lab	db4aedf6b8
11:108545529 DDX10 Ref too long to show for this DEL>C	11	108545529	108567509	Ref too long to show for this DEL	C	DDX10	c.248-791_1223+3182del	NM_004398.4	NP_004389.2:p.?	NC_000011.9:g.108545532_108567509del	VUS	1 lab	db4b2ed63e
4:9246858 USP17L17 C>A	4	9246858	9246858	C	A	USP17L17	c.1254C>A	NM_001256857.1	NP_001243786.1:p.(Pro418=)	NC_000004.11:g.9246858C>A	(Likely) benign	1 lab	db4fbdd289
3:38593147 SCN5A T>C	3	38593147	38593147	T	C	SCN5A	c.4811-98A>G	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38593147T>C	(Likely) benign	1 lab	db5144ea94
11:117253636 CEP164 A>C	11	117253636	117253636	A	C	CEP164	c.1702A>C	NM_014956.5	NP_055771.4:p.(Thr568Pro)	NC_000011.9:g.117253636A>C	(Likely) benign	1 lab	db58096009
16:920079 LMF1 C>T	16	920079	920079	C	T	LMF1	c.834-13G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920079C>T	VUS	1 lab	db62a946b8
16:978371 LMF1 A>G	16	978371	978371	A	G	LMF1	c.115+5620T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.978371A>G	(Likely) benign	1 lab	db652b7645
2:47403633 CALM2 G>GCT	2	47403633	47403640	G	GCT	CALM2	c.46_47dup	NM_001305624.1	NP_001292553.1:p.(Ser16ArgfsTer4)	NC_000002.11:g.47403639_47403640dup	VUS	1 lab	db66604823
15:58840761 LIPC C>G	15	58840761	58840761	C	G	LIPC	c.1041C>G	NM_000236.3	NP_000227.2:p.(Ser347=)	NC_000015.9:g.58840761C>G	(Likely) benign	1 lab	db6997b925
11:18322367 HPS5 A>G	11	18322367	18322367	A	G	HPS5	c.985+8T>C	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18322367A>G	(Likely) benign	1 lab	db6dcdf905
6:16129583 MYLIP G>T	6	16129583	16129583	G	T	MYLIP	c.30G>T	NM_013262.4	NP_037394.2:p.(Ala10=)	NC_000006.11:g.16129583G>T	(Likely) benign	1 lab	db6de52a61
8:145621587 CPSF1 G>A	8	145621587	145621587	G	A	CPSF1	c.2955C>T	NM_013291.3	NP_037423.2:p.(Arg985=)	NC_000008.10:g.145621587G>A	(Likely) benign	1 lab	db6e58fd7c
19:49675334 TRPM4 C>A	19	49675334	49675334	C	A	TRPM4	c.1119C>A	NM_017636.4	NP_060106.2:p.(Phe373Leu)	NC_000019.9:g.49675334C>A	(Likely) benign	1 lab	db717162de
22:50523154 MLC1 C>A	22	50523154	50523154	C	A	MLC1	c.177+1G>T	NM_015166.4	NP_055981.1:p.?	NC_000022.10:g.50523154C>A	(Likely) pathogenic	1 lab	db73f04119
11:1016968 MUC6 T>C	11	1016968	1016968	T	C	MUC6	c.5833A>G	NM_005961.3	NP_005952.2:p.(Thr1945Ala)	NC_000011.9:g.1016968T>C	(Likely) benign	1 lab	db7473c95f
2:48010519 MSH6 C>T	2	48010519	48010519	C	T	MSH6	c.147C>T	NM_000179.3	NP_000170.1:p.(Ala49=)	NC_000002.11:g.48010519C>T	(Likely) benign	1 lab	db749cd2e3
3:38664028 SCN5A C>T	3	38664028	38664028	C	T	SCN5A	c.393-48G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38664028C>T	(Likely) benign	1 lab	db75364b19
1:211654770 RD3 T>C	1	211654770	211654770	T	C	RD3	c.-13A>G	NM_183059.3	NP_898882.1:p.?	NC_000001.10:g.211654770T>C	VUS	1 lab	db7640bbf4
X:70444002 GJB1 T>G	X	70444002	70444002	T	G	GJB1	c.445T>G	NM_000166.6	NP_000157.1:p.(Phe149Val)	NC_000023.10:g.70444002T>G	(Likely) pathogenic	1 lab	db7a413a17
19:1219422 STK11 C>T	19	1219422	1219422	C	T	STK11	c.464+10C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1219422C>T	(Likely) benign	1 lab	db7a5c1a29
16:57003556 CETP C>A	16	57003556	57003556	C	A	CETP	c.402C>A	NM_000078.3	NP_000069.2:p.(Ile134=)	NC_000016.9:g.57003556C>A	(Likely) benign	1 lab	db7ab931d1
20:33507379 ACSS2 AGTGT>A	20	33507379	33507423	AGTGT	A	ACSS2	c.1011+45_1011+48del	NM_001076552.3	NP_001070020.2:p.?	NC_000020.10:g.33507420_33507423del	(Likely) benign	1 lab	db7b3fa360
22:29885786 NEFH T>C	22	29885786	29885786	T	C	NEFH	c.2157T>C	NM_021076.4	NP_066554.2:p.(Pro719=)	NC_000022.10:g.29885786T>C	(Likely) benign	1 lab	db7cc5a032
2:29293950 PCARE G>T	2	29293950	29293950	G	T	PCARE	c.3178C>A	NM_001029883.3	NP_001025054.1:p.(Pro1060Thr)	NC_000002.11:g.29293950G>T	(Likely) benign	1 lab	db7f6adeaf
13:53409544 MISSING Ref too long to show for this DEL>T	13	53409544	53815116	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.53409545_53815116del	VUS	1 lab	db80c481c7
2:21230145 APOB G>C	2	21230145	21230145	G	C	APOB	c.9595C>G	NM_000384.3	NP_000375.3:p.(Gln3199Glu)	NC_000002.11:g.21230145G>C	(Likely) benign	1 lab	db8100e817
6:56371446 DST ATAAG>A	6	56371446	56371454	ATAAG	A	DST	c.13005+15_13005+18del	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56371451_56371454del	VUS	1 lab	db83c0bc70
1:63063425 ANGPTL3 A>C	1	63063425	63063425	A	C	ANGPTL3	c.188A>C	NM_014495.4	NP_055310.1:p.(Lys63Thr)	NC_000001.10:g.63063425A>C	(Likely) pathogenic	1 lab	db87689ddf
6:111493953 SLC16A10 C>T	6	111493953	111493953	C	T	SLC16A10	c.399C>T	NM_018593.5	NP_061063.2:p.(Ser133=)	NC_000006.11:g.111493953C>T	(Likely) benign	1 lab	db8932de2b
11:95583932 MTMR2 A>G	11	95583932	95583932	A	G	MTMR2	c.439-19T>C	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583932A>G	(Likely) benign	1 lab	db8b4c7119
11:121477553 SORL1 G>A	11	121477553	121477553	G	A	SORL1	c.4949-1G>A	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121477553G>A	VUS	1 lab	db8d2dc10e
17:59924539 BRIP1 C>A	17	59924539	59924539	C	A	BRIP1	c.550G>T	NM_032043.3	NP_114432.2:p.(Asp184Tyr)	NC_000017.10:g.59924539C>A	VUS	1 lab	db8da20ab1
10:89720581 PTEN A>T	10	89720581	89720581	A	T	PTEN	c.802-70A>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720581A>T	(Likely) benign	1 lab	db92801b14
2:21232011 APOB T>G	2	21232011	21232011	T	G	APOB	c.7729A>C	NM_000384.3	NP_000375.3:p.(Met2577Leu)	NC_000002.11:g.21232011T>G	VUS	1 lab	db92825b6c
12:8800931 MFAP5 A>G	12	8800931	8800931	A	G	MFAP5	c.410-132T>C	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8800931A>G	(Likely) benign	1 lab	db93b6cf68
16:67974109 LCAT C>T	16	67974109	67974109	C	T	LCAT	c.1021G>A	NM_000229.2	NP_000220.1:p.(Val341Met)	NC_000016.9:g.67974109C>T	VUS	1 lab	db9a2b4b16
21:47404384 COL6A1 G>A	21	47404384	47404384	G	A	COL6A1	c.428+1G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47404384G>A	(Likely) pathogenic	1 lab	dbb65b09cb
5:95743977 PCSK1 C>T	5	95743977	95743977	C	T	PCSK1	c.1146G>A	NM_000439.5	NP_000430.3:p.(Ser382=)	NC_000005.9:g.95743977C>T	(Likely) benign	1 lab	dba9c030ad
1:40777800 COL9A2 T>C	1	40777800	40777800	T	C	COL9A2	c.364-16A>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40777800T>C	(Likely) benign	1 lab	dbae1b1310
12:124298077 DNAH10 C>T	12	124298077	124298077	C	T	DNAH10	c.3157C>T	NM_207437.3	NP_997320.2:p.(His1053Tyr)	NC_000012.11:g.124298077C>T	(Likely) benign	1 lab	dbaee6371b
10:69961767 MYPN C>T	10	69961767	69961767	C	T	MYPN	c.3659+16C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69961767C>T	(Likely) benign	1 lab	dbaf32adc9
2:179437094 TTN A>G	2	179437094	179437094	A	G	TTN	c.73765T>C	NM_001267550.2	NP_001254479.2:p.(Tyr24589His)	NC_000002.11:g.179437094A>G	VUS	1 lab	dbaf4bc20f
9:137710829 COL5A1 C>T	9	137710829	137710829	C	T	COL5A1	c.4393-17C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710829C>T	(Likely) benign	1 lab	dbb05a8c83
18:25565000 CDH2 T>C	18	25565000	25565000	T	C	CDH2	c.2173A>G	NM_001792.5	NP_001783.2:p.(Ile725Val)	NC_000018.9:g.25565000T>C	VUS	1 lab	dbb2de0b0e
3:38640549 SCN5A C>T	3	38640549	38640549	C	T	SCN5A	c.1891-8G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38640549C>T	(Likely) benign	1 lab	dbb48af841
2:85533374 TCF7L1 C>T	2	85533374	85533374	C	T	TCF7L1	c.1035C>T	NM_031283.3	NP_112573.1:p.(His345=)	NC_000002.11:g.85533374C>T	(Likely) benign	1 lab	dbb6c56057
7:44282243 CAMK2B C>T	7	44282243	44282243	C	T	CAMK2B	c.612G>A	NM_001220.5	NP_001211.3:p.(Leu204=)	NC_000007.13:g.44282243C>T	(Likely) benign	1 lab	dbbbacf637
3:122614057 MISSING G>Alt too long to show for this DUP	3	122614057	123389131	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.122614060_123389131dup	VUS	1 lab	dbbc4091b9
4:98847691 STPG2 G>Alt too long to show for this DUP	4	98847691	98875892	G	Alt too long to show for this DUP	STPG2	c.934-10734_1044+17356dup	NM_174952.3	NP_777612.1:p.?	NC_000004.11:g.98847692_98875892dup	VUS	1 lab	dbbc50f983
8:133906136 TG G>C	8	133906136	133906136	G	C	TG	c.2963G>C	NM_003235.5	NP_003226.4:p.(Arg988Pro)	NC_000008.10:g.133906136G>C	(Likely) benign	1 lab	dbc033c6da
15:31073734 MISSING Ref too long to show for this DEL>A	15	31073734	32914240	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.31073735_32914240del	(Likely) pathogenic	1 lab	dbc7086adc
19:11233950 LDLR C>A	19	11233950	11233950	C	A	LDLR	c.2241C>A	NM_000527.5	NP_000518.1:p.(Pro747=)	NC_000019.9:g.11233950C>A	(Likely) benign	1 lab	dbc7ab1897
9:100843238 NANS T>C	9	100843238	100843238	T	C	NANS	c.744T>C	NM_018946.4	NP_061819.2:p.(Ser248=)	NC_000009.11:g.100843238T>C	(Likely) benign	1 lab	dbc902e57c
1:25889176 LDLRAP1 C>T	1	25889176	25889176	C	T	LDLRAP1	c.501C>T	NM_015627.3	NP_056442.2:p.(Val167=)	NC_000001.10:g.25889176C>T	(Likely) benign	1 lab	dbca0373a1
6:112466118 LAMA4 C>A	6	112466118	112466118	C	A	LAMA4	c.2371G>T	NM_001105206.3	NP_001098676.2:p.(Val791Phe)	NC_000006.11:g.112466118C>A	VUS	1 lab	dbca074904
15:73615022 HCN4 G>C	15	73615022	73615022	G	C	HCN4	c.3412C>G	NM_005477.3	NP_005468.1:p.(Pro1138Ala)	NC_000015.9:g.73615022G>C	VUS	1 lab	dbceacd884
12:2764422 CACNA1C T>G	12	2764422	2764422	T	G	CACNA1C	c.4376+18T>G	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2764422T>G	(Likely) benign	1 lab	dbcf7bdb1b
18:5292207 ZBTB14 CA>C	18	5292207	5292220	CA	C	ZBTB14	c.4-5del	NM_001143823.3	NP_001137295.1:p.?	NC_000018.9:g.5292220del	(Likely) benign	1 lab	dbd1970cbb
16:28884561 SH2B1 C>T	16	28884561	28884561	C	T	SH2B1	c.2021C>T	NM_001145797.2	NP_001139269.1:p.(Pro674Leu)	NC_000016.9:g.28884561C>T	VUS	1 lab	dbd1deca6a
8:19823042 LPL C>T	8	19823042	19823042	C	T	LPL	c.*221C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19823042C>T	(Likely) benign	1 lab	dbd54fa474
4:650021 PDE6B G>A	4	650021	650021	G	A	PDE6B	c.1060-13G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.650021G>A	(Likely) benign	1 lab	dbd70ce19c
14:23858263 MYH6 G>A	14	23858263	23858263	G	A	MYH6	c.3980C>T	NM_002471.4	NP_002462.2:p.(Ala1327Val)	NC_000014.8:g.23858263G>A	(Likely) benign	1 lab	dbd9d11b84
7:128482849 FLNC C>A	7	128482849	128482849	C	A	FLNC	c.2391C>A	NM_001458.5	NP_001449.3:p.(Gly797=)	NC_000007.13:g.128482849C>A	(Likely) benign	1 lab	dbde19f140
14:23889041 MYH7 G>T	14	23889041	23889041	G	T	MYH7	c.3726+13C>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23889041G>T	(Likely) benign	1 lab	dbe2547a64
18:43316396 MISSING T>Alt too long to show for this DUP	18	43316396	43764876	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.43316398_43764876dup	(Likely) pathogenic	1 lab	dbe72c1628
17:41246233 BRCA1 C>T	17	41246233	41246233	C	T	BRCA1	c.1315G>A	NM_007294.4	NP_009225.1:p.(Ala439Thr)	NC_000017.10:g.41246233C>T	(Likely) benign	1 lab	dbe873f923
6:86253455 SNX14 G>A	6	86253455	86253455	G	A	SNX14	c.1132C>T	NM_153816.6	NP_722523.1:p.(Arg378Ter)	NC_000006.11:g.86253455G>A	(Likely) pathogenic	1 lab	dbe8ea7a96
11:298883 IFITM5 GC>G	11	298883	298885	GC	G	IFITM5	c.187-171del	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.298885del	(Likely) benign	1 lab	dbeb017988
17:1490238 SLC43A2 CTTA>C	17	1490238	1490241	CTTA	C	SLC43A2	c.1090+2_1090+4del	NM_001284498.2	NP_001271427.1:p.?	NC_000017.10:g.1490239_1490241del	(Likely) benign	1 lab	dbeda0fd83
2:21228076 APOB C>T	2	21228076	21228076	C	T	APOB	c.11664G>A	NM_000384.3	NP_000375.3:p.(Glu3888=)	NC_000002.11:g.21228076C>T	(Likely) benign	1 lab	dbee18df3a
4:74010555 ANKRD17 T>TA	4	74010555	74010570	T	TA	ANKRD17	c.1870-7dup	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.74010570dup	(Likely) benign	1 lab	dbf2b1700a
9:85656443 MISSING T>Alt too long to show for this DUP	9	85656443	85735694	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.85656444_85735694dup	VUS	1 lab	dbf5328f8b
7:128483522 FLNC A>T	7	128483522	128483522	A	T	FLNC	c.2702A>T	NM_001458.5	NP_001449.3:p.(Lys901Met)	NC_000007.13:g.128483522A>T	VUS	1 lab	dbf53340ac
10:100195036 HPS1 G>A	10	100195036	100195036	G	A	HPS1	c.391C>T	NM_000195.5	NP_000186.2:p.(Arg131Ter)	NC_000010.10:g.100195036G>A	(Likely) pathogenic	1 lab	dbf7aa1488
12:121880055 KDM2B G>A	12	121880055	121880055	G	A	KDM2B	c.3189C>T	NM_032590.5	NP_115979.3:p.(His1063=)	NC_000012.11:g.121880055G>A	(Likely) benign	1 lab	dbfe09af55
17:2235469 TSR1 C>T	17	2235469	2235469	C	T	TSR1	c.1490G>A	NM_018128.5	NP_060598.3:p.(Arg497Gln)	NC_000017.10:g.2235469C>T	(Likely) benign	1 lab	dc0045c856
X:70443805 GJB1 T>C	X	70443805	70443805	T	C	GJB1	c.248T>C	NM_000166.6	NP_000157.1:p.(Leu83Pro)	NC_000023.10:g.70443805T>C	(Likely) pathogenic	1 lab	dc015bc216
21:35742916 KCNE2 T>C	21	35742916	35742916	T	C	KCNE2	c.139T>C	NM_172201.2	NP_751951.1:p.(Tyr47His)	NC_000021.8:g.35742916T>C	VUS	1 lab	dc03390312
14:105173654 INF2 G>C	14	105173654	105173654	G	C	INF2	c.1050G>C	NM_022489.4	NP_071934.3:p.(Pro350=)	NC_000014.8:g.105173654G>C	(Likely) benign	1 lab	dc04448bba
9:107566930 ABCA1 C>A	9	107566930	107566930	C	A	ABCA1	c.4536G>T	NM_005502.4	NP_005493.2:p.(Thr1512=)	NC_000009.11:g.107566930C>A	(Likely) benign	1 lab	dc05a89f6a
10:100177478 HPS1 A>G	10	100177478	100177478	A	G	HPS1	c.974T>C	NM_001322487.2	NP_001309416.1:p.(Leu325Pro)	NC_000010.10:g.100177478A>G	VUS	1 lab	dc083260e4
12:57975366 KIF5A G>A	12	57975366	57975366	G	A	KIF5A	c.2909+15G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57975366G>A	VUS	1 lab	dc0dc82d04
20:5283151 PROKR2 G>A	20	5283151	5283151	G	A	PROKR2	c.690C>T	NM_144773.4	NP_658986.1:p.(Val230=)	NC_000020.10:g.5283151G>A	(Likely) benign	1 lab	dc0ec31abb
8:41839431 KAT6A G>A	8	41839431	41839431	G	A	KAT6A	c.751C>T	NM_006766.5	NP_006757.2:p.(Arg251Ter)	NC_000008.10:g.41839431G>A	(Likely) pathogenic	1 lab	dc0f2fc9f1
2:97427004 CNNM4 C>T	2	97427004	97427004	C	T	CNNM4	c.268C>T	NM_020184.4	NP_064569.3:p.(Leu90=)	NC_000002.11:g.97427004C>T	(Likely) benign	1 lab	dc114501e6
5:138160400 CTNNA1 A>G	5	138160400	138160400	A	G	CTNNA1	c.770A>G	NM_001903.5	NP_001894.2:p.(Asn257Ser)	NC_000005.9:g.138160400A>G	(Likely) benign	1 lab	dc89467abf
2:216217638 MISSING Ref too long to show for this DEL>C	2	216217638	216300363	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.216217639_216300363del	VUS	1 lab	dc153008e2
15:40059746 MISSING Ref too long to show for this DEL>C	15	40059746	40083894	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.40059749_40083894del	VUS	1 lab	dc1a3904df
15:85384127 ALPK3 G>A	15	85384127	85384127	G	A	ALPK3	c.1617G>A	NM_020778.5	NP_065829.4:p.(Thr539=)	NC_000015.9:g.85384127G>A	(Likely) benign	1 lab	dc1a7c59bd
2:179569345 TTN C>G	2	179569345	179569345	C	G	TTN	c.29854G>C	NM_001267550.2	NP_001254479.2:p.(Asp9952His)	NC_000002.11:g.179569345C>G	VUS	1 lab	dc1ad4ed3c
7:87041282 ABCB4 A>G	7	87041282	87041282	A	G	ABCB4	c.2851T>C	NM_018849.3	NP_061337.1:p.(Ser951Pro)	NC_000007.13:g.87041282A>G	VUS	1 lab	dc20952b75
13:50041585 MISSING C>Alt too long to show for this DUP	13	50041585	50095024	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.50041588_50095024dup	VUS	1 lab	dc2229662a
1:95449280 MISSING Ref too long to show for this DEL>A	1	95449280	97608097	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.95449281_97608097del	VUS	1 lab	dc274f99a7
1:236900597 ACTN2 G>GTGTA	1	236900597	236900598	G	GTGTA	ACTN2	c.876+83_876+84insTGTA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTGTA	(Likely) benign	1 lab	dc2c1cdf37
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844595	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-3_9406-2insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844594_100844595insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	dc2eaf34af
3:38888227 SCN11A C>T	3	38888227	38888227	C	T	SCN11A	c.5334G>A	NM_014139.3	NP_054858.2:p.(Leu1778=)	NC_000003.11:g.38888227C>T	(Likely) benign	1 lab	dc2ec8d85b
2:21228889 APOB G>T	2	21228889	21228889	G	T	APOB	c.10851C>A	NM_000384.3	NP_000375.3:p.(Gly3617=)	NC_000002.11:g.21228889G>T	(Likely) benign	1 lab	dc2edc7ec3
22:29876548 NEFH G>A	22	29876548	29876548	G	A	NEFH	c.297G>A	NM_021076.4	NP_066554.2:p.(Glu99=)	NC_000022.10:g.29876548G>A	(Likely) benign	1 lab	dc31756b50
5:175523430 MISSING Ref too long to show for this DEL>T	5	175523430	177429138	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.175523431_177429138del	(Likely) pathogenic	1 lab	dc3834a986
17:11972701 MISSING Ref too long to show for this DEL>C	17	11972701	12362445	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.11972702_12362445del	VUS	1 lab	dc38c8e7dc
7:150671828 KCNH2 T>C	7	150671828	150671828	T	C	KCNH2	c.278A>G	NM_000238.4	NP_000229.1:p.(Lys93Arg)	NC_000007.13:g.150671828T>C	VUS	1 lab	dc45e514a5
10:33190567 ITGB1 C>A	10	33190567	33190567	C	A	ITGB1	c.2332-4G>T	NM_002211.4	NP_002202.2:p.?	NC_000010.10:g.33190567C>A	(Likely) benign	1 lab	dc461382d1
3:145791151 PLOD2 A>G	3	145791151	145791151	A	G	PLOD2	c.1678-12T>C	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145791151A>G	(Likely) benign	1 lab	dc4a2ac89c
15:34542479 SLC12A6 C>T	15	34542479	34542479	C	T	SLC12A6	c.1622+20G>A	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34542479C>T	(Likely) benign	1 lab	dc5311eb21
3:188585787 LPP Ref too long to show for this DEL>A	3	188585787	188593856	Ref too long to show for this DEL	A	LPP	c.1589+1624_*1589del	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.188585790_188593856del	VUS	1 lab	dc55b08b70
7:44105108 PGAM2 CA>C	7	44105108	44105109	CA	C	PGAM2	c.20del	NM_000290.4	NP_000281.2:p.(Val7GlyfsTer24)	NC_000007.13:g.44105109del	(Likely) pathogenic	1 lab	dc5cb872b0
17:40477064 STAT3 C>G	17	40477064	40477064	C	G	STAT3	c.1381G>C	NM_139276.3	NP_644805.1:p.(Val461Leu)	NC_000017.10:g.40477064C>G	(Likely) benign	1 lab	dc5cffd47d
16:81348761 GAN C>A	16	81348761	81348761	C	A	GAN	c.43C>A	NM_022041.4	NP_071324.1:p.(Arg15Ser)	NC_000016.9:g.81348761C>A	(Likely) pathogenic	1 lab	dc5d1cec90
11:47353577 MYBPC3 G>T	11	47353577	47353577	G	T	MYBPC3	c.3814+46C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353577G>T	(Likely) benign	1 lab	dc61d07fe0
13:54046334 MISSING Ref too long to show for this DEL>A	13	54046334	63482663	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.54046336_63482663del	(Likely) pathogenic	1 lab	dc63016e2a
15:85410452 ALPK3 A>AC	15	85410452	85410453	A	AC	ALPK3	c.4724-96_4724-95insC	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410452_85410453insC	(Likely) benign	1 lab	dc63cb6b1a
19:45683163 BLOC1S3 G>A	19	45683163	45683163	G	A	BLOC1S3	c.609G>A	NM_212550.5	NP_997715.1:p.(Ter203=)	NC_000019.9:g.45683163G>A	(Likely) benign	1 lab	dc65a84cee
6:100838335 SIM1 T>G	6	100838335	100838335	T	G	SIM1	c.2203A>C	NM_005068.3	NP_005059.2:p.(Asn735His)	NC_000006.11:g.100838335T>G	VUS	1 lab	dc661849a4
11:65315672 LTBP3 C>G	11	65315672	65315672	C	G	LTBP3	c.1721-156G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65315672C>G	(Likely) benign	1 lab	dc696d417e
2:189855843 COL3A1 A>G	2	189855843	189855843	A	G	COL3A1	c.852+60A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189855843A>G	(Likely) benign	1 lab	dc6d3d7635
X:10477358 MID1 A>Alt too long to show for this DUP	X	10477358	10577639	A	Alt too long to show for this DUP	MID1	c.-57+10692_757-13628dup	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10477360_10577639dup	(Likely) pathogenic	1 lab	dc6f9dbc0e
7:128496814 FLNC G>A	7	128496814	128496814	G	A	FLNC	c.7400G>A	NM_001458.5	NP_001449.3:p.(Arg2467His)	NC_000007.13:g.128496814G>A	VUS	1 lab	dc6facf68c
11:65306875 LTBP3 G>A	11	65306875	65306875	G	A	LTBP3	c.3684C>T	NM_001130144.3	NP_001123616.1:p.(Cys1228=)	NC_000011.9:g.65306875G>A	(Likely) benign	1 lab	dc72f05cbd
18:47107904 LIPG AAG>A	18	47107904	47107906	AAG	A	LIPG	c.914_915del	NM_006033.4	NP_006024.1:p.(Lys305ArgfsTer12)	NC_000018.9:g.47107905_47107906del	(Likely) pathogenic	1 lab	dc73d291b8
16:920844 LMF1 C>T	16	920844	920844	C	T	LMF1	c.1117G>A	NM_022773.4	NP_073610.2:p.(Val373Ile)	NC_000016.9:g.920844C>T	(Likely) benign	1 lab	dd6be3c6b8
8:133885471 TG G>A	8	133885471	133885471	G	A	TG	c.638+5G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133885471G>A	(Likely) pathogenic	1 lab	dc74c24e31
5:82837631 VCAN G>T	5	82837631	82837631	G	T	VCAN	c.8809G>T	NM_004385.5	NP_004376.2:p.(Asp2937Tyr)	NC_000005.9:g.82837631G>T	(Likely) benign	1 lab	dc759241b1
12:49431356 KMT2D CTG>C	12	49431356	49431358	CTG	C	KMT2D	c.9781_9782del	NM_003482.4	NP_003473.3:p.(Gln3261GlufsTer39)	NC_000012.11:g.49431357_49431358del	(Likely) pathogenic	1 lab	dc75aae111
15:32685258 GOLGA8K C>T	15	32685258	32685258	C	T	GOLGA8K	c.1702G>A	NM_001282493.1	NP_001269422.1:p.(Ala568Thr)	NC_000015.9:g.32685258C>T	(Likely) benign	1 lab	dc75d5b2e5
1:45345481 EIF2B3 T>C	1	45345481	45345481	T	C	EIF2B3	c.975+9A>G	NM_020365.5	NP_065098.1:p.?	NC_000001.10:g.45345481T>C	(Likely) benign	1 lab	dc770e9f38
11:76916670 MYO7A G>T	11	76916670	76916670	G	T	MYO7A	c.5636+8G>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76916670G>T	(Likely) benign	1 lab	dc78fdae31
2:179594069 TTN T>G	2	179594069	179594069	T	G	TTN	c.18814A>C	NM_001267550.2	NP_001254479.2:p.(Ile6272Leu)	NC_000002.11:g.179594069T>G	VUS	1 lab	dc79bbe2b4
1:156107496 LMNA G>A	1	156107496	156107496	G	A	LMNA	c.1660G>A	NM_170707.4	NP_733821.1:p.(Glu554Lys)	NC_000001.10:g.156107496G>A	VUS	1 lab	dc7cdcb399
12:21392017 SLCO1B1 A>G	12	21392017	21392017	A	G	SLCO1B1	c.1970A>G	NM_006446.5	NP_006437.3:p.(Asn657Ser)	NC_000012.11:g.21392017A>G	(Likely) benign	1 lab	dc7ddffe2a
X:13786919 OFD1 TAC>T	X	13786919	13786925	TAC	T	OFD1	c.2996+20_2996+21del	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13786924_13786925del	(Likely) benign	1 lab	dc8340ab6e
1:161277193 MPZ A>G	1	161277193	161277193	A	G	MPZ	c.89T>C	NM_000530.8	NP_000521.2:p.(Ile30Thr)	NC_000001.10:g.161277193A>G	(Likely) pathogenic	1 lab	dc853b853b
2:25472560 DNMT3A C>T	2	25472560	25472560	C	T	DNMT3A	c.38G>A	NM_153759.3	NP_715640.2:p.(Arg13His)	NC_000002.11:g.25472560C>T	(Likely) benign	1 lab	dc8810ea5b
2:65540905 SPRED2 C>G	2	65540905	65540905	C	G	SPRED2	c.987G>C	NM_181784.3	NP_861449.2:p.(Ala329=)	NC_000002.11:g.65540905C>G	(Likely) benign	1 lab	dc8a625160
6:56354349 DST T>C	6	56354349	56354349	T	C	DST	c.14459A>G	NM_001144769.5	NP_001138241.1:p.(Asp4820Gly)	NC_000006.11:g.56354349T>C	VUS	1 lab	dc8be94fd5
15:28259959 OCA2 G>A	15	28259959	28259959	G	A	OCA2	c.1007C>T	NM_000275.3	NP_000266.2:p.(Ala336Val)	NC_000015.9:g.28259959G>A	(Likely) benign	1 lab	dc8fbfd225
8:133899517 TG G>A	8	133899517	133899517	G	A	TG	c.1900G>A	NM_003235.5	NP_003226.4:p.(Gly634Arg)	NC_000008.10:g.133899517G>A	(Likely) benign	1 lab	dc916cc283
11:686960 DEAF1 C>T	11	686960	686960	C	T	DEAF1	c.702G>A	NM_021008.4	NP_066288.2:p.(Trp234Ter)	NC_000011.9:g.686960C>T	(Likely) pathogenic	1 lab	dc92fb78b8
19:11332621 DOCK6 G>A	19	11332621	11332621	G	A	DOCK6	c.3456C>T	NM_020812.4	NP_065863.2:p.(Tyr1152=)	NC_000019.9:g.11332621G>A	(Likely) benign	1 lab	dc93531259
9:107620852 ABCA1 G>A	9	107620852	107620852	G	A	ABCA1	c.671C>T	NM_005502.4	NP_005493.2:p.(Ala224Val)	NC_000009.11:g.107620852G>A	VUS	1 lab	dc986d06a4
11:47359245 MYBPC3 G>T	11	47359245	47359245	G	T	MYBPC3	c.2409C>A	NM_000256.3	NP_000247.2:p.(Ile803=)	NC_000011.9:g.47359245G>T	(Likely) benign	1 lab	dcefb7dc25
17:7351971 CHRNB1 G>A	17	7351971	7351971	G	A	CHRNB1	c.684G>A	NM_000747.3	NP_000738.2:p.(Arg228=)	NC_000017.10:g.7351971G>A	(Likely) benign	1 lab	dca4c43cae
15:22740572 MISSING C>Alt too long to show for this DUP	15	22740572	23104851	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22740573_23104851dup	(Likely) benign	1 lab	dca6397c13
7:128484995 FLNC G>A	7	128484995	128484995	G	A	FLNC	c.3476G>A	NM_001458.5	NP_001449.3:p.(Arg1159Gln)	NC_000007.13:g.128484995G>A	VUS	1 lab	dca6d9d91a
1:185097776 MISSING T>Alt too long to show for this DUP	1	185097776	185130087	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.185097779_185130087dup	VUS	1 lab	dca9ec5850
X:63409831 AMER1 C>T	X	63409831	63409831	C	T	AMER1	c.3336G>A	NM_152424.4	NP_689637.3:p.(Glu1112=)	NC_000023.10:g.63409831C>T	(Likely) benign	1 lab	dcaf4915f1
X:138418634 MISSING A>Alt too long to show for this DUP	X	138418634	139000629	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.138418636_139000629dup	VUS	1 lab	dcb514e223
8:18851526 PSD3 Ref too long to show for this DEL>G	8	18851526	18858810	Ref too long to show for this DEL	G	PSD3	c.21+12265_21+19546del	NM_015310.4	NP_056125.3:p.?	NC_000008.10:g.18851529_18858810del	(Likely) benign	1 lab	dcb96a676c
15:62259637 VPS13C C>T	15	62259637	62259637	C	T	VPS13C	c.2921G>A	NM_001018088.3	NP_001018098.1:p.(Arg974Lys)	NC_000015.9:g.62259637C>T	(Likely) benign	1 lab	dcba3aacd7
2:21242731 APOB G>A	2	21242731	21242731	G	A	APOB	c.2863C>T	NM_000384.3	NP_000375.3:p.(Pro955Ser)	NC_000002.11:g.21242731G>A	(Likely) benign	1 lab	dcbac2d42e
6:32012817 TNXB C>T	6	32012817	32012817	C	T	TNXB	c.10887G>A	NM_019105.8	NP_061978.6:p.(Lys3629=)	NC_000006.11:g.32012817C>T	(Likely) benign	1 lab	dcbb0b7e4d
4:122734388 EXOSC9 G>Alt too long to show for this DUP	4	122734388	122739343	G	Alt too long to show for this DUP	EXOSC9				NC_000004.11:g.122734390_122739343dup	VUS	1 lab	dcbf34d9f2
X:117782863 MISSING A>Alt too long to show for this DUP	X	117782863	118239394	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.117782866_118239394dup	VUS	1 lab	dcc144c2e6
10:121348232 MISSING T>Alt too long to show for this DUP	10	121348232	121488434	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.121348233_121488434dup	VUS	1 lab	dcc2ac5e60
15:71952899 THSD4 G>A	15	71952899	71952899	G	A	THSD4	c.1183G>A	NM_024817.2	NP_079093.2:p.(Asp395Asn)	NC_000015.9:g.71952899G>A	(Likely) benign	1 lab	dcc530cb08
16:56947276 SLC12A3 C>T	16	56947276	56947276	C	T	SLC12A3	c.3052C>T	NM_000339.3	NP_000330.3:p.(Arg1018Ter)	NC_000016.9:g.56947276C>T	(Likely) pathogenic	1 lab	dcc622b9fd
12:996373 WNK1 T>A	12	996373	996373	T	A	WNK1	c.5281-14T>A	NM_018979.4	NP_061852.3:p.?	NC_000012.11:g.996373T>A	(Likely) benign	1 lab	dcc66d393e
14:102489229 DYNC1H1 G>A	14	102489229	102489229	G	A	DYNC1H1	c.8637+12G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102489229G>A	(Likely) benign	1 lab	dcca465d4b
11:47431703 SLC39A13 A>G	11	47431703	47431703	A	G	SLC39A13	c.58A>G	NM_001128225.3	NP_001121697.2:p.(Thr20Ala)	NC_000011.9:g.47431703A>G	(Likely) benign	1 lab	dcca8e8531
2:21229375 APOB A>G	2	21229375	21229375	A	G	APOB	c.10365T>C	NM_000384.3	NP_000375.3:p.(Ser3455=)	NC_000002.11:g.21229375A>G	(Likely) benign	1 lab	dccd9b182e
6:123539731 TRDN G>A	6	123539731	123539731	G	A	TRDN	c.*15C>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123539731G>A	(Likely) benign	1 lab	dccde30fc7
10:112540896 RBM20 A>T	10	112540896	112540896	A	T	RBM20	c.529A>T	NM_001134363.3	NP_001127835.2:p.(Thr177Ser)	NC_000010.10:g.112540896A>T	(Likely) benign	1 lab	dcce9ebddf
7:150646083 KCNH2 G>A	7	150646083	150646083	G	A	KCNH2	c.2453C>T	NM_000238.4	NP_000229.1:p.(Ser818Leu)	NC_000007.13:g.150646083G>A	(Likely) pathogenic	1 lab	dcd381ba63
15:28940038 MISSING A>Alt too long to show for this DUP	15	28940038	29096442	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.28940039_29096442dup	VUS	1 lab	dcd3a08203
12:50498806 GPD1 T>A	12	50498806	50498806	T	A	GPD1	c.219+272T>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498806T>A	(Likely) benign	1 lab	dcd3c269c7
6:87966335 ZNF292 TG>T	6	87966335	87966336	TG	T	ZNF292	c.2569del	NM_001351444.2	NP_001338373.1:p.(Asp857MetfsTer9)	NC_000006.11:g.87966336del	(Likely) pathogenic	1 lab	dcdf015c53
X:54011445 PHF8 C>T	X	54011445	54011445	C	T	PHF8	c.2345G>A	NM_015107.3	NP_055922.1:p.(Arg782Gln)	NC_000023.10:g.54011445C>T	VUS	1 lab	dce0c40737
3:9791985 OGG1 G>T	3	9791985	9791985	G	T	OGG1	c.15G>T	NM_016821.3	NP_058214.1:p.(Ala5=)	NC_000003.11:g.9791985G>T	(Likely) benign	1 lab	dce10bb8d8
15:85411599 ALPK3 C>T	15	85411599	85411599	C	T	ALPK3	c.5030C>T	NM_020778.5	NP_065829.4:p.(Thr1677Ile)	NC_000015.9:g.85411599C>T	VUS	1 lab	dce17b915b
10:71158429 HK1 C>T	10	71158429	71158429	C	T	HK1	c.2559C>T	NM_001322365.2	NP_001309294.1:p.(Leu853=)	NC_000010.10:g.71158429C>T	(Likely) benign	1 lab	dce2bd5b7e
11:47356660 MYBPC3 T>G	11	47356660	47356660	T	G	MYBPC3	c.2838A>C	NM_000256.3	NP_000247.2:p.(Ala946=)	NC_000011.9:g.47356660T>G	(Likely) benign	1 lab	dce3c8383f
6:32548554 HLA-DRB1 G>C	6	32548554	32548554	G	C	HLA-DRB1	c.732C>G	NM_002124.4	NP_002115.2:p.(Ala244=)	NC_000006.11:g.32548554G>C	(Likely) benign	1 lab	dce7cd5606
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTT	CACNB2	c.37-20_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439792_18439809dup	(Likely) benign	1 lab	dcea4ede1c
10:54032569 PRKG1 A>C	10	54032569	54032569	A	C	PRKG1	c.1358+328A>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54032569A>C	(Likely) benign	1 lab	dceeff7bea
5:149516594 PDGFRB G>A	5	149516594	149516594	G	A	PDGFRB	c.17C>T	NM_002609.4	NP_002600.1:p.(Ala6Val)	NC_000005.9:g.149516594G>A	(Likely) benign	1 lab	dcef254d7e
12:124111723 EIF2B1 T>C	12	124111723	124111723	T	C	EIF2B1	c.370-20A>G	NM_001414.4	NP_001405.1:p.?	NC_000012.11:g.124111723T>C	(Likely) benign	1 lab	dcef7c18d5
16:1030987 LMF1 G>A	16	1030987	1030987	G	A	LMF1	c.-362+158C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1030987G>A	(Likely) benign	1 lab	dcf05047bc
4:74282011 ALB T>C	4	74282011	74282011	T	C	ALB	c.1230T>C	NM_000477.7	NP_000468.1:p.(Asn410=)	NC_000004.11:g.74282011T>C	(Likely) benign	1 lab	dcf3553b03
1:154570348 ADAR G>A	1	154570348	154570348	G	A	ADAR	c.1005C>T	NM_001193495.2	NP_001180424.1:p.(Cys335=)	NC_000001.10:g.154570348G>A	(Likely) benign	1 lab	dcf5679095
2:73828026 ALMS1 G>A	2	73828026	73828026	G	A	ALMS1	c.11875+18G>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73828026G>A	(Likely) benign	1 lab	dcf6ba6260
12:21965015 ABCC9 C>A	12	21965015	21965015	C	A	ABCC9	c.4179G>T	NM_001377273.1	NP_001364202.1:p.(Leu1393=)	NC_000012.11:g.21965015C>A	(Likely) benign	1 lab	dd238dbdf9
21:15397306 MISSING Ref too long to show for this DEL>A	21	15397306	22001872	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.15397307_22001872del	(Likely) pathogenic	1 lab	dcf9c9891e
15:28776254 GOLGA8G T>C	15	28776254	28776254	T	C	GOLGA8G	c.105A>G	NM_001350919.2	NP_001337848.1:p.(Arg35=)	NC_000015.9:g.28776254T>C	(Likely) benign	1 lab	dcfbb6d415
20:62660859 PRPF6 C>T	20	62660859	62660859	C	T	PRPF6	c.2546+15C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62660859C>T	(Likely) benign	1 lab	dcfea320c0
6:123580810 TRDN AGG>A	6	123580810	123580814	AGG	A	TRDN	c.1832-5_1832-4del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123580813_123580814del	(Likely) benign	1 lab	dcff394742
2:179463606 TTN A>G	2	179463606	179463606	A	G	TTN	c.56831T>C	NM_001267550.2	NP_001254479.2:p.(Leu18944Ser)	NC_000002.11:g.179463606A>G	VUS	1 lab	dd0197c424
6:42689575 PRPH2 G>A	6	42689575	42689575	G	A	PRPH2	c.498C>T	NM_000322.5	NP_000313.2:p.(Cys166=)	NC_000006.11:g.42689575G>A	(Likely) benign	1 lab	dd01fedeaa
8:144295498 GPIHBP1 TAGGACAGTGAGTAGGGTGAGTAGGCTGC>T	8	144295498	144295550	TAGGACAGTGAGTAGGGTGAGTAGGCTGC	T	GPIHBP1	c.53-174_53-147del	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295523_144295550del	(Likely) benign	1 lab	dd0234a5d8
2:179448391 TTN C>T	2	179448391	179448391	C	T	TTN	c.65518G>A	NM_001267550.2	NP_001254479.2:p.(Val21840Ile)	NC_000002.11:g.179448391C>T	VUS	1 lab	dd02fddee9
2:96947579 SNRNP200 G>C	2	96947579	96947579	G	C	SNRNP200	c.4997C>G	NM_014014.5	NP_054733.2:p.(Thr1666Ser)	NC_000002.11:g.96947579G>C	VUS	1 lab	dd05dd1d0b
1:55512318 PCSK9 C>T	1	55512318	55512318	C	T	PCSK9	c.522C>T	NM_174936.4	NP_777596.2:p.(Pro174=)	NC_000001.10:g.55512318C>T	(Likely) benign	1 lab	dd09575f54
5:136458327 MISSING A>Alt too long to show for this DUP	5	136458327	136868141	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.136458328_136868141dup	VUS	1 lab	dd0aabb1af
4:100512518 MTTP A>T	4	100512518	100512518	A	T	MTTP	c.618+10A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512518A>T	(Likely) benign	1 lab	dd0ae113e3
7:16315649 CRPPA Ref too long to show for this DEL>T	7	16315649	16417299	Ref too long to show for this DEL	T	CRPPA	c.535-1431_933+2104del	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16315652_16417299del	VUS	1 lab	dd0bdfb265
3:38622650 SCN5A C>T	3	38622650	38622650	C	T	SCN5A	c.3000G>A	NM_198056.3	NP_932173.1:p.(Gln1000=)	NC_000003.11:g.38622650C>T	(Likely) benign	1 lab	dd0cd5e60e
22:32793988 MISSING Ref too long to show for this DEL>C	22	32793988	32823234	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.32793991_32823234del	VUS	1 lab	dd0da93487
19:41119829 LTBP4 C>T	19	41119829	41119829	C	T	LTBP4	c.2766C>T	NM_001042544.1	NP_001036009.1:p.(Asp922=)	NC_000019.9:g.41119829C>T	(Likely) benign	1 lab	dd0ea35d1b
19:17014505 CPAMD8 C>T	19	17014505	17014505	C	T	CPAMD8	c.4407+7G>A	NM_015692.5	NP_056507.3:p.?	NC_000019.9:g.17014505C>T	(Likely) benign	1 lab	dd11f22c68
4:114264302 ANK2 A>G	4	114264302	114264302	A	G	ANK2	c.4389+4A>G	NM_001386174.1	NP_001373103.1:p.?	NC_000004.11:g.114264302A>G	(Likely) benign	1 lab	dd12c9fb34
17:44408776 LRRC37A T>C	17	44408776	44408776	T	C	LRRC37A	c.4133T>C	NM_014834.4	NP_055649.4:p.(Leu1378Pro)	NC_000017.10:g.44408776T>C	(Likely) benign	1 lab	dd158f2a7b
19:45451954 APOC2 G>C	19	45451954	45451954	G	C	APOC2	c.56-4G>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451954G>C	(Likely) benign	1 lab	dd16c83d71
12:38714945 ALG10B C>T	12	38714945	38714945	C	T	ALG10B	c.1352C>T	NM_001013620.4	NP_001013642.2:p.(Thr451Ile)	NC_000012.11:g.38714945C>T	VUS	1 lab	dd179b9d66
10:71158356 HK1 G>A	10	71158356	71158356	G	A	HK1	c.2345G>A	NM_033500.2	NP_277035.2:p.(Arg782Gln)	NC_000010.10:g.71158356G>A	VUS	1 lab	dd193f81ae
1:185659751 MISSING Ref too long to show for this DEL>A	1	185659751	185755946	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.185659752_185755946del	VUS	1 lab	dd1bb0cfbe
17:48271934 COL1A1 C>CT	17	48271934	48271936	C	CT	COL1A1	c.1514dup	NM_000088.4	NP_000079.2:p.(Pro507SerfsTer4)	NC_000017.10:g.48271936dup	(Likely) pathogenic	1 lab	dd1d7e343a
6:151717531 MISSING G>Alt too long to show for this DUP	6	151717531	151741648	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.151717534_151741648dup	VUS	1 lab	dd20dff822
6:75842823 COL12A1 T>C	6	75842823	75842823	T	C	COL12A1	c.5794+186A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75842823T>C	(Likely) benign	1 lab	dd22be99e6
11:67926254 KMT5B TTC>T	11	67926254	67926257	TTC	T	KMT5B	c.1557_1558del	NM_017635.5	NP_060105.3:p.(Asn520SerfsTer33)	NC_000011.9:g.67926256_67926257del	(Likely) pathogenic	1 lab	dd24ec52ad
13:32900236 BRCA2 A>G	13	32900236	32900236	A	G	BRCA2	c.426-2A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900236A>G	(Likely) pathogenic	1 lab	dd29759eee
11:89831294 MISSING A>Alt too long to show for this DUP	11	89831294	89907135	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.89831295_89907135dup	VUS	1 lab	dd2c523fe9
10:71640310 COL13A1 GT>G	10	71640310	71640311	GT	G	COL13A1	c.513+2del	NM_001368882.1	NP_001355811.1:p.?	NC_000010.10:g.71640311del	(Likely) pathogenic	1 lab	dd2db99fc8
10:73571142 CDH23 G>T	10	73571142	73571142	G	T	CDH23	c.9148G>T	NM_022124.6	NP_071407.4:p.(Val3050Leu)	NC_000010.10:g.73571142G>T	(Likely) benign	1 lab	dd2e15611b
2:44098629 ABCG8 C>G	2	44098629	44098629	C	G	ABCG8	c.965-486C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44098629C>G	(Likely) benign	1 lab	dd3472d20d
9:130580552 ENG C>T	9	130580552	130580552	C	T	ENG	c.1533G>A	NM_001114753.3	NP_001108225.1:p.(Ala511=)	NC_000009.11:g.130580552C>T	(Likely) benign	1 lab	dd36b00789
11:47356925 MYBPC3 C>G	11	47356925	47356925	C	G	MYBPC3	c.2738-165G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356925C>G	(Likely) benign	1 lab	dd387acf9f
11:47374287 MYBPC3 G>T	11	47374287	47374287	G	T	MYBPC3				NC_000011.9:g.47374287G>T	(Likely) benign	1 lab	dd3aaedf22
1:112524890 KCND3 C>T	1	112524890	112524890	C	T	KCND3	c.459G>A	NM_004980.5	NP_004971.2:p.(Ser153=)	NC_000001.10:g.112524890C>T	(Likely) benign	1 lab	dd3f018ed5
9:35720033 TLN1 T>C	9	35720033	35720033	T	C	TLN1	c.1464+3A>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35720033T>C	(Likely) benign	1 lab	dd3f1fd2c9
3:50403763 CACNA2D2 G>GT	3	50403763	50403764	G	GT	CACNA2D2	c.2643dup	NM_006030.4	NP_006021.2:p.(Leu882ThrfsTer6)	NC_000003.11:g.50403764dup	(Likely) pathogenic	1 lab	dd400f7221
6:42672297 PRPH2 T>A	6	42672297	42672297	T	A	PRPH2	c.634A>T	NM_000322.5	NP_000313.2:p.(Ser212Cys)	NC_000006.11:g.42672297T>A	VUS	1 lab	dd4094c1e7
12:124387586 DNAH10 A>G	12	124387586	124387586	A	G	DNAH10	c.9387A>G	NM_207437.3	NP_997320.2:p.(Ala3129=)	NC_000012.11:g.124387586A>G	(Likely) benign	1 lab	dd4096f7f9
22:32625297 SLC5A4 G>A	22	32625297	32625297	G	A	SLC5A4	c.1164C>T	NM_014227.3	NP_055042.1:p.(Ala388=)	NC_000022.10:g.32625297G>A	(Likely) benign	1 lab	dd432d41cc
2:179427561 TTN T>C	2	179427561	179427561	T	C	TTN	c.83298A>G	NM_001267550.2	NP_001254479.2:p.(Ser27766=)	NC_000002.11:g.179427561T>C	(Likely) benign	1 lab	dd53da0e5f
1:237753294 RYR2 A>T	1	237753294	237753294	A	T	RYR2	c.3800A>T	NM_001035.3	NP_001026.2:p.(His1267Leu)	NC_000001.10:g.237753294A>T	VUS	1 lab	dd57785037
6:118880157 PLN C>T	6	118880157	118880157	C	T	PLN	c.73C>T	NM_002667.5	NP_002658.1:p.(Arg25Cys)	NC_000006.11:g.118880157C>T	(Likely) pathogenic	1 lab	dd59ca971d
1:3160662 PRDM16 G>A	1	3160662	3160662	G	A	PRDM16	c.399G>A	NM_022114.4	NP_071397.3:p.(Thr133=)	NC_000001.10:g.3160662G>A	(Likely) benign	1 lab	dd6118276c
16:918870 LMF1 T>C	16	918870	918870	T	C	LMF1	c.1130+74A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918870T>C	(Likely) benign	1 lab	dd618794fc
1:173921280 RC3H1 C>A	1	173921280	173921280	C	A	RC3H1	c.2371-4G>T	NM_001300850.1	NP_001287779.1:p.?	NC_000001.10:g.173921280C>A	(Likely) benign	1 lab	dd67342b60
9:112254516 MISSING G>Alt too long to show for this DUP	9	112254516	112613594	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.112254517_112613594dup	VUS	1 lab	dd6b1e067b
13:110830523 COL4A1 C>T	13	110830523	110830523	C	T	COL4A1	c.2514G>A	NM_001845.6	NP_001836.3:p.(Met838Ile)	NC_000013.10:g.110830523C>T	VUS	1 lab	dd6bef13c8
22:46931793 CELSR1 G>C	22	46931793	46931793	G	C	CELSR1	c.1275C>G	NM_001378328.1	NP_001365257.1:p.(Leu425=)	NC_000022.10:g.46931793G>C	(Likely) benign	1 lab	dd6d1f0c4a
11:47368922 MYBPC3 G>T	11	47368922	47368922	G	T	MYBPC3	c.905+55C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368922G>T	(Likely) benign	1 lab	dd6e9c98de
7:151776589 MISSING T>Alt too long to show for this DUP	7	151776589	151975050	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151776590_151975050dup	VUS	1 lab	dd6ec46e39
X:9711605 GPR143 CA>C	X	9711605	9711608	CA	C	GPR143	c.766del	NM_000273.3	NP_000264.2:p.(Cys256ValfsTer26)	NC_000023.10:g.9711608del	(Likely) pathogenic	1 lab	dd725e9c03
19:50902633 POLD1 G>T	19	50902633	50902633	G	T	POLD1	c.208G>T	NM_001256849.1	NP_001243778.1:p.(Val70Phe)	NC_000019.9:g.50902633G>T	(Likely) benign	1 lab	dd726bfd41
11:95583913 MTMR2 C>CCTGCCTT	11	95583913	95583916	C	CCTGCCTT	MTMR2	c.439-1_439insAAGGCAG	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583915_95583916insGCCTTCT	(Likely) benign	1 lab	dd74fe204b
5:10266067 CCT5 G>T	5	10266067	10266067	G	T	CCT5	c.*1172G>T	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10266067G>T	(Likely) benign	1 lab	dd784cebf7
1:237955698 RYR2 CGT>C	1	237955698	237955724	CGT	C	RYR2	c.13782+100_13782+101del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237955723_237955724del	(Likely) benign	1 lab	dd79e0e0a0
7:6509245 KDELR2 G>A	7	6509245	6509245	G	A	KDELR2	c.333C>T	NM_006854.4	NP_006845.1:p.(His111=)	NC_000007.13:g.6509245G>A	(Likely) benign	1 lab	dd7b23fd76
14:50647331 SOS2 T>C	14	50647331	50647331	T	C	SOS2	c.928A>G	NM_006939.4	NP_008870.2:p.(Asn310Asp)	NC_000014.8:g.50647331T>C	VUS	1 lab	dd7cdfd2d5
19:17994594 SLC5A5 A>G	19	17994594	17994594	A	G	SLC5A5	c.1329+18A>G	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17994594A>G	(Likely) benign	1 lab	dd7ff71de5
16:50783991 CYLD G>A	16	50783991	50783991	G	A	CYLD	c.382G>A	NM_015247.3	NP_056062.1:p.(Gly128Ser)	NC_000016.9:g.50783991G>A	VUS	1 lab	dd8041d18d
6:56504477 DST TA>T	6	56504477	56504488	TA	T	DST	c.2598+16del	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56504488del	(Likely) benign	1 lab	dd81f2272b
2:163137871 IFIH1 C>G	2	163137871	163137871	C	G	IFIH1	c.1491G>C	NM_022168.4	NP_071451.2:p.(Thr497=)	NC_000002.11:g.163137871C>G	(Likely) benign	1 lab	dd89f9eefe
10:48388432 RBP3 C>A	10	48388432	48388432	C	A	RBP3	c.2446G>T	NM_002900.3	NP_002891.1:p.(Ala816Ser)	NC_000010.10:g.48388432C>A	(Likely) benign	1 lab	dd8af16f7d
20:40848593 PTPRT Ref too long to show for this DEL>C	20	40848593	40976811	Ref too long to show for this DEL	C	PTPRT	c.1865+2457_2342+16275del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.40848594_40976811del	(Likely) pathogenic	1 lab	dd8ce4999e
9:107586520 ABCA1 CAAAG>C	9	107586520	107586527	CAAAG	C	ABCA1	c.2656+222_2656+225del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107586524_107586527del	(Likely) benign	1 lab	dd93ea4d4e
18:47094442 LIPG C>T	18	47094442	47094442	C	T	LIPG	c.459+451C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47094442C>T	(Likely) benign	1 lab	dd95f0bbba
8:144295806 GPIHBP1 C>T	8	144295806	144295806	C	T	GPIHBP1	c.162C>T	NM_178172.6	NP_835466.2:p.(Leu54=)	NC_000008.10:g.144295806C>T	(Likely) benign	1 lab	dd99796eb3
6:56342136 DST C>T	6	56342136	56342136	C	T	DST	c.15318+7G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56342136C>T	(Likely) benign	1 lab	dd9a79e93f
7:78784127 MISSING A>Alt too long to show for this DUP	7	78784127	79149620	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.78784128_79149620dup	(Likely) pathogenic	1 lab	dd9be58cc6
2:219267957 CTDSP1 C>T	2	219267957	219267957	C	T	CTDSP1	c.474C>T	NM_021198.3	NP_067021.1:p.(Tyr158=)	NC_000002.11:g.219267957C>T	(Likely) benign	1 lab	dd9e99dc58
17:59760874 BRIP1 T>A	17	59760874	59760874	T	A	BRIP1	c.3533A>T	NM_032043.3	NP_114432.2:p.(Glu1178Val)	NC_000017.10:g.59760874T>A	VUS	1 lab	dd9f555a80
16:88787737 PIEZO1 C>T	16	88787737	88787737	C	T	PIEZO1	c.5505G>A	NM_001142864.4	NP_001136336.2:p.(Ala1835=)	NC_000016.9:g.88787737C>T	(Likely) benign	1 lab	dda4aae671
2:179500301 TTN GGT>G	2	179500301	179500303	GGT	G	TTN	c.41748_41749del	NM_001267550.2	NP_001254479.2:p.(Glu13916AspfsTer3)	NC_000002.11:g.179500302_179500303del	(Likely) pathogenic	1 lab	dda51eeeb2
1:168074023 GPR161 G>A	1	168074023	168074023	G	A	GPR161	c.66C>T	NM_001349632.1	NP_001336561.1:p.(Gly22=)	NC_000001.10:g.168074023G>A	(Likely) benign	1 lab	dda5bfd250
1:55523802 PCSK9 A>G	1	55523802	55523802	A	G	PCSK9	c.1274A>G	NM_174936.4	NP_777596.2:p.(Asn425Ser)	NC_000001.10:g.55523802A>G	VUS	1 lab	dda914fa96
2:21232029 APOB G>T	2	21232029	21232029	G	T	APOB	c.7711C>A	NM_000384.3	NP_000375.3:p.(Gln2571Lys)	NC_000002.11:g.21232029G>T	VUS	1 lab	ddaad534d1
1:202698986 KDM5B A>T	1	202698986	202698986	A	T	KDM5B	c.4454T>A	NM_001314042.1	NP_001300971.1:p.(Phe1485Tyr)	NC_000001.10:g.202698986A>T	(Likely) pathogenic	1 lab	ddabd43911
18:14780019 ANKRD30B G>T	18	14780019	14780019	G	T	ANKRD30B	c.1481G>T	NM_001367607.1	NP_001354536.1:p.(Gly494Val)	NC_000018.9:g.14780019G>T	(Likely) benign	1 lab	ddb0107db7
13:32915295 BRCA2 G>A	13	32915295	32915295	G	A	BRCA2	c.6803G>A	NM_000059.4	NP_000050.3:p.(Arg2268Lys)	NC_000013.10:g.32915295G>A	(Likely) benign	1 lab	ddb281cba8
19:49477961 GYS1 G>A	19	49477961	49477961	G	A	GYS1	c.1338C>T	NM_002103.5	NP_002094.2:p.(His446=)	NC_000019.9:g.49477961G>A	(Likely) benign	1 lab	ddb3d96638
1:10342629 KIF1B G>A	1	10342629	10342629	G	A	KIF1B	c.1296+38G>A	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10342629G>A	(Likely) benign	1 lab	ddb478170c
2:128046899 ERCC3 G>A	2	128046899	128046899	G	A	ERCC3	c.822+14C>T	NM_000122.2	NP_000113.1:p.?	NC_000002.11:g.128046899G>A	(Likely) benign	1 lab	ddb55557ab
6:169621929 THBS2 G>A	6	169621929	169621929	G	A	THBS2	c.3274-307C>T	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169621929G>A	(Likely) benign	1 lab	ddb99a38db
3:59737999 FHIT C>T	3	59737999	59737999	C	T	FHIT	c.397G>A	NM_002012.4	NP_002003.1:p.(Glu133Lys)	NC_000003.11:g.59737999C>T	(Likely) benign	1 lab	ddba466d7d
17:34823203 MISSING Ref too long to show for this DEL>C	17	34823203	36311009	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.34823204_36311009del	(Likely) pathogenic	1 lab	ddc116a2bd
11:47363901 MYBPC3 G>C	11	47363901	47363901	G	C	MYBPC3	c.1625-194C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363901G>C	(Likely) benign	1 lab	ddc6625318
2:241710463 KIF1A G>A	2	241710463	241710463	G	A	KIF1A	c.1341C>T	NM_001379631.1	NP_001366560.1:p.(Arg447=)	NC_000002.11:g.241710463G>A	(Likely) benign	1 lab	ddccccc56c
15:58834819 LIPC C>T	15	58834819	58834819	C	T	LIPC	c.543C>T	NM_000236.3	NP_000227.2:p.(Ile181=)	NC_000015.9:g.58834819C>T	(Likely) benign	1 lab	ddd128eb50
16:68847230 CDH1 G>A	16	68847230	68847230	G	A	CDH1	c.1152G>A	NM_004360.5	NP_004351.1:p.(Val384=)	NC_000016.9:g.68847230G>A	(Likely) benign	1 lab	ddda4918a4
4:100534381 MTTP C>T	4	100534381	100534381	C	T	MTTP	c.2217+84C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534381C>T	(Likely) benign	1 lab	ddda7d8bfd
13:33332241 PDS5B C>T	13	33332241	33332241	C	T	PDS5B	c.3073C>T	NM_015032.4	NP_055847.1:p.(Leu1025=)	NC_000013.10:g.33332241C>T	(Likely) benign	1 lab	dddbec6adc
5:149498295 PDGFRB C>T	5	149498295	149498295	C	T	PDGFRB	c.2904+15G>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149498295C>T	(Likely) benign	1 lab	ddde600559
6:112454696 LAMA4 A>G	6	112454696	112454696	A	G	LAMA4	c.3558-7T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112454696A>G	(Likely) benign	1 lab	dddfe22aca
2:44102520 ABCG8 G>A	2	44102520	44102520	G	A	ABCG8	c.1724G>A	NM_022437.3	NP_071882.1:p.(Gly575Asp)	NC_000002.11:g.44102520G>A	VUS	1 lab	dde5328947
13:26975617 CDK8 G>T	13	26975617	26975617	G	T	CDK8	c.1125G>T	NM_001260.3	NP_001251.1:p.(Gln375His)	NC_000013.10:g.26975617G>T	VUS	1 lab	ddeceeabd7
18:57103289 CCBE1 CG>C	18	57103289	57103290	CG	C	CCBE1	c.1071del	NM_133459.4	NP_597716.1:p.(Phe357LeufsTer42)	NC_000018.9:g.57103290del	(Likely) pathogenic	1 lab	ddefdbc7e6
12:112919909 PTPN11 A>G	12	112919909	112919909	A	G	PTPN11	c.1124A>G	NM_002834.5	NP_002825.3:p.(Tyr375Cys)	NC_000012.11:g.112919909A>G	VUS	1 lab	ddeffd6c20
7:92134142 PEX1 C>A	7	92134142	92134142	C	A	PEX1	c.1351G>T	NM_001282678.2	NP_001269607.1:p.(Val451Phe)	NC_000007.13:g.92134142C>A	VUS	1 lab	ddf07ffbd1
1:161928228 ATF6 G>A	1	161928228	161928228	G	A	ATF6	c.1805-8G>A	NM_007348.4	NP_031374.2:p.?	NC_000001.10:g.161928228G>A	(Likely) benign	1 lab	ddf0f796b3
12:49421038 KMT2D C>G	12	49421038	49421038	C	G	KMT2D	c.14711G>C	NM_003482.4	NP_003473.3:p.(Arg4904Pro)	NC_000012.11:g.49421038C>G	VUS	1 lab	ddf273ae7c
5:127645943 FBN2 T>C	5	127645943	127645943	T	C	FBN2	c.5075-143A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127645943T>C	(Likely) benign	1 lab	ddf3bbc9c0
1:25893500 LDLRAP1 G>A	1	25893500	25893500	G	A	LDLRAP1	c.*17G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893500G>A	VUS	1 lab	ddf559f43e
17:39919424 JUP C>A	17	39919424	39919424	C	A	JUP	c.1308G>T	NM_002230.4	NP_002221.1:p.(Glu436Asp)	NC_000017.10:g.39919424C>A	VUS	1 lab	ddf7afaf0a
1:79318567 MISSING Ref too long to show for this DEL>C	1	79318567	79975949	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.79318570_79975949del	VUS	1 lab	ddfd15c166
20:21224929 KIZ G>A	20	21224929	21224929	G	A	KIZ	c.1924+3G>A	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21224929G>A	(Likely) benign	1 lab	ddfd88a67d
8:120800692 TAF2 T>TA	8	120800692	120800702	T	TA	TAF2	c.1684-6dup	NM_003184.4	NP_003175.2:p.?	NC_000008.10:g.120800702dup	(Likely) benign	1 lab	ddfe47b4d5
2:85360850 TCF7L1 A>G	2	85360850	85360850	A	G	TCF7L1	c.43A>G	NM_031283.3	NP_112573.1:p.(Ser15Gly)	NC_000002.11:g.85360850A>G	VUS	1 lab	ddfe5442ba
19:8400042 KANK3 C>T	19	8400042	8400042	C	T	KANK3	c.669G>A	NM_198471.3	NP_940873.2:p.(Arg223=)	NC_000019.9:g.8400042C>T	(Likely) benign	1 lab	ddfefc1ce9
10:61832131 ANK3 A>G	10	61832131	61832131	A	G	ANK3	c.8508T>C	NM_020987.5	NP_066267.2:p.(His2836=)	NC_000010.10:g.61832131A>G	(Likely) benign	1 lab	de0410f306
1:8420695 RERE A>G	1	8420695	8420695	A	G	RERE	c.2872T>C	NM_012102.4	NP_036234.3:p.(Ser958Pro)	NC_000001.10:g.8420695A>G	VUS	1 lab	de07e85cbe
9:107584911 ABCA1 G>A	9	107584911	107584911	G	A	ABCA1	c.2694C>T	NM_005502.4	NP_005493.2:p.(Gly898=)	NC_000009.11:g.107584911G>A	(Likely) benign	1 lab	de0d38e856
8:132052457 ADCY8 C>T	8	132052457	132052457	C	T	ADCY8	c.123G>A	NM_001115.3	NP_001106.1:p.(Ala41=)	NC_000008.10:g.132052457C>T	(Likely) benign	1 lab	de0ff741ba
16:88804734 PIEZO1 A>G	16	88804734	88804734	A	G	PIEZO1	c.749T>C	NM_001142864.4	NP_001136336.2:p.(Val250Ala)	NC_000016.9:g.88804734A>G	(Likely) benign	1 lab	de15e5b0c3
2:179404573 TTN T>G	2	179404573	179404573	T	G	TTN	c.98219A>C	NM_001267550.2	NP_001254479.2:p.(Lys32740Thr)	NC_000002.11:g.179404573T>G	VUS	1 lab	de16906062
X:129279559 AIFM1 G>C	X	129279559	129279559	G	C	AIFM1	c.606-15C>G	NM_001130847.4	NP_001124319.1:p.?	NC_000023.10:g.129279559G>C	(Likely) benign	1 lab	de1708b213
8:100286499 VPS13B A>G	8	100286499	100286499	A	G	VPS13B	c.2589A>G	NM_017890.5	NP_060360.3:p.(Thr863=)	NC_000008.10:g.100286499A>G	(Likely) benign	1 lab	de1710661b
20:56235041 PMEPA1 T>A	20	56235041	56235041	T	A	PMEPA1	c.110-288A>T	NM_020182.5	NP_064567.2:p.?	NC_000020.10:g.56235041T>A	(Likely) benign	1 lab	de18e8ff59
9:107579638 ABCA1 G>A	9	107579638	107579638	G	A	ABCA1	c.3510C>T	NM_005502.4	NP_005493.2:p.(Asp1170=)	NC_000009.11:g.107579638G>A	(Likely) benign	1 lab	de1934c4c2
6:7576767 DSP C>T	6	7576767	7576767	C	T	DSP	c.2793+78C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7576767C>T	(Likely) benign	1 lab	de1967a4c2
11:6644427 DCHS1 C>G	11	6644427	6644427	C	G	DCHS1	c.8480G>C	NM_003737.4	NP_003728.1:p.(Arg2827Pro)	NC_000011.9:g.6644427C>G	(Likely) benign	1 lab	de197c6050
6:80626317 ELOVL4 A>G	6	80626317	80626317	A	G	ELOVL4	c.*8T>C	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80626317A>G	(Likely) benign	1 lab	de19809e78
16:46764587 MYLK3 G>T	16	46764587	46764587	G	T	MYLK3	c.1486C>A	NM_182493.3	NP_872299.2:p.(Pro496Thr)	NC_000016.9:g.46764587G>T	VUS	1 lab	de20cff0f9
14:64430640 SYNE2 Ref too long to show for this DEL>C	14	64430640	64532209	Ref too long to show for this DEL	C	SYNE2	c.913_10272del	NM_182914.3	NP_878918.2:p.(Trp305_Leu3424del)	NC_000014.8:g.64430641_64532209del	(Likely) pathogenic	1 lab	de253e847f
6:55196586 GFRAL Ref too long to show for this DEL>A	6	55196586	55216336	Ref too long to show for this DEL	A	GFRAL	c.97_656del	NM_207410.2	NP_997293.2:p.(Arg33LeufsTer11)	NC_000006.11:g.55196587_55216336del	VUS	1 lab	de26518421
X:131219649 FRMD7 A>C	X	131219649	131219649	A	C	FRMD7	c.605T>G	NM_194277.3	NP_919253.1:p.(Ile202Ser)	NC_000023.10:g.131219649A>C	VUS	1 lab	de26bfe101
15:63336037 TPM1 G>T	15	63336037	63336037	G	T	TPM1	c.115-189G>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63336037G>T	(Likely) benign	1 lab	de2924741a
6:41126744 TREM2 G>T	6	41126744	41126744	G	T	TREM2	c.543C>A	NM_018965.4	NP_061838.1:p.(Cys181Ter)	NC_000006.11:g.41126744G>T	(Likely) pathogenic	1 lab	de299b9f55
17:41228505 BRCA1 C>A	17	41228505	41228505	C	A	BRCA1	c.4484G>T	NM_007294.4	NP_009225.1:p.(Arg1495Met)	NC_000017.10:g.41228505C>A	(Likely) pathogenic	1 lab	de2c144b46
16:68863698 CDH1 GAAGT>G	16	68863698	68863708	GAAGT	G	CDH1	c.2439+5_2439+8del	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68863705_68863708del	(Likely) pathogenic	1 lab	de2d7e6eed
18:28667788 DSC2 G>GT	18	28667788	28667789	G	GT	DSC2	c.631-13dup	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28667789dup	(Likely) benign	1 lab	de3026ef19
1:236894560 ACTN2 G>A	1	236894560	236894560	G	A	ACTN2	c.643G>A	NM_001103.4	NP_001094.1:p.(Ala215Thr)	NC_000001.10:g.236894560G>A	VUS	1 lab	de30e19c8a
7:104746306 KMT2E C>T	7	104746306	104746306	C	T	KMT2E	c.2452C>T	NM_182931.3	NP_891847.1:p.(Arg818Ter)	NC_000007.13:g.104746306C>T	VUS	1 lab	de32e07600
17:48435649 XYLT2 G>A	17	48435649	48435649	G	A	XYLT2	c.2023G>A	NM_022167.4	NP_071450.2:p.(Val675Met)	NC_000017.10:g.48435649G>A	(Likely) benign	1 lab	de340a6652
17:56289735 MKS1 T>A	17	56289735	56289735	T	A	MKS1	c.915+4A>T	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56289735T>A	(Likely) pathogenic	1 lab	de353f6ee0
1:156146669 SEMA4A C>A	1	156146669	156146669	C	A	SEMA4A	c.2167C>A	NM_022367.4	NP_071762.2:p.(Arg723Ser)	NC_000001.10:g.156146669C>A	VUS	1 lab	de3e254094
17:41243820 BRCA1 C>T	17	41243820	41243820	C	T	BRCA1	c.3728G>A	NM_007294.4	NP_009225.1:p.(Arg1243Lys)	NC_000017.10:g.41243820C>T	(Likely) benign	1 lab	de40e573a5
22:38370222 SOX10 C>CAG	22	38370222	38370234	C	CAG	SOX10	c.698-19_698-18dup	NM_006941.4	NP_008872.1:p.?	NC_000022.10:g.38370233_38370234dup	(Likely) benign	1 lab	de40ea2506
1:63063714 ANGPTL3 A>G	1	63063714	63063714	A	G	ANGPTL3	c.477A>G	NM_014495.4	NP_055310.1:p.(Pro159=)	NC_000001.10:g.63063714A>G	(Likely) benign	1 lab	de41fe52bf
16:66958886 RRAD T>G	16	66958886	66958886	T	G	RRAD	c.197A>C	NM_001128850.2	NP_001122322.1:p.(Gln66Pro)	NC_000016.9:g.66958886T>G	(Likely) benign	1 lab	de4324c994
X:10935940 MISSING T>Alt too long to show for this DUP	X	10935940	11172545	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.10935941_11172545dup	VUS	1 lab	de438014bf
1:201010661 CACNA1S C>T	1	201010661	201010661	C	T	CACNA1S	c.5105G>A	NM_000069.3	NP_000060.2:p.(Arg1702Gln)	NC_000001.10:g.201010661C>T	VUS	1 lab	de44a481d6
5:177035643 B4GALT7 G>A	5	177035643	177035643	G	A	B4GALT7	c.723+20G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035643G>A	(Likely) benign	1 lab	de475a5f30
15:48728990 FBN1 TG>T	15	48728990	48728993	TG	T	FBN1	c.6496+167del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48728993del	(Likely) benign	1 lab	de49099e33
17:14078110 MISSING Ref too long to show for this DEL>A	17	14078110	15479940	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.14078111_15479940del	(Likely) pathogenic	1 lab	de4a8e3e7c
9:111661038 ELP1 A>C	9	111661038	111661038	A	C	ELP1	c.2205-9T>G	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111661038A>C	(Likely) benign	1 lab	de4ad44540
2:179612806 TTN T>C	2	179612806	179612806	T	C	TTN	c.14321A>G	NM_133379.5	NP_596870.2:p.(Lys4774Arg)	NC_000002.11:g.179612806T>C	(Likely) benign	1 lab	de4e1e3674
1:147230621 GJA5 C>T	1	147230621	147230621	C	T	GJA5	c.726G>A	NM_005266.7	NP_005257.2:p.(Arg242=)	NC_000001.10:g.147230621C>T	(Likely) benign	1 lab	de51320af9
3:123454178 MYLK T>A	3	123454178	123454178	T	A	MYLK	c.773+67A>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123454178T>A	(Likely) benign	1 lab	de52371fe1
10:61831651 ANK3 C>G	10	61831651	61831651	C	G	ANK3	c.8988G>C	NM_020987.5	NP_066267.2:p.(Gln2996His)	NC_000010.10:g.61831651C>G	(Likely) benign	1 lab	de53c32c95
8:55538071 RP1 T>C	8	55538071	55538071	T	C	RP1	c.1629T>C	NM_006269.2	NP_006260.1:p.(Ser543=)	NC_000008.10:g.55538071T>C	(Likely) benign	1 lab	de55196404
11:125871715 CDON G>A	11	125871715	125871715	G	A	CDON	c.2057C>T	NM_001243597.2	NP_001230526.1:p.(Ala686Val)	NC_000011.9:g.125871715G>A	(Likely) benign	1 lab	de58d5e0c5
5:172659850 NKX2-5 C>T	5	172659850	172659850	C	T	NKX2-5	c.697G>A	NM_004387.4	NP_004378.1:p.(Asp233Asn)	NC_000005.9:g.172659850C>T	VUS	1 lab	de5aa2188f
14:102508991 DYNC1H1 G>A	14	102508991	102508991	G	A	DYNC1H1	c.12419G>A	NM_001376.5	NP_001367.2:p.(Arg4140His)	NC_000014.8:g.102508991G>A	VUS	1 lab	de5b56d668
9:107603158 ABCA1 C>T	9	107603158	107603158	C	T	ABCA1	c.814-358G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107603158C>T	(Likely) benign	1 lab	de5f4f6390
20:35420302 MTCL2 Ref too long to show for this DEL>C	20	35420302	35450284	Ref too long to show for this DEL	C	MTCL2	c.1072-4412_4833+1349del	NM_080627.4	NP_542194.2:p.?	NC_000020.10:g.35420303_35450284del	VUS	1 lab	de5ffd7d6d
10:13342007 PHYH A>G	10	13342007	13342007	A	G	PHYH	c.36T>C	NM_001323082.2	NP_001310011.1:p.(Ile12=)	NC_000010.10:g.13342007A>G	(Likely) benign	1 lab	de6173f015
15:58838039 LIPC C>T	15	58838039	58838039	C	T	LIPC	c.673C>T	NM_000236.3	NP_000227.2:p.(Arg225Trp)	NC_000015.9:g.58838039C>T	(Likely) benign	1 lab	de68a2b8f8
X:70443029 GJB1 T>G	X	70443029	70443029	T	G	GJB1	c.-16-513T>G	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70443029T>G	(Likely) pathogenic	1 lab	de694b09a9
2:234229467 SAG AC>A	2	234229467	234229468	AC	A	SAG	c.374del	NM_000541.5	NP_000532.2:p.(Thr125SerfsTer10)	NC_000002.11:g.234229468del	(Likely) pathogenic	1 lab	de7400589c
10:85973906 CDHR1 T>A	10	85973906	85973906	T	A	CDHR1	c.2109T>A	NM_033100.4	NP_149091.1:p.(Gly703=)	NC_000010.10:g.85973906T>A	(Likely) benign	1 lab	de746a3164
7:140449122 BRAF G>A	7	140449122	140449122	G	A	BRAF	c.1957C>T	NM_004333.6	NP_004324.2:p.(Gln653Ter)	NC_000007.13:g.140449122G>A	VUS	1 lab	de74aa581b
2:179472806 TTN G>A	2	179472806	179472806	G	A	TTN	c.52708C>T	NM_001267550.2	NP_001254479.2:p.(Pro17570Ser)	NC_000002.11:g.179472806G>A	VUS	1 lab	de7836f306
22:29886415 NEFH C>A	22	29886415	29886415	C	A	NEFH	c.2786C>A	NM_021076.4	NP_066554.2:p.(Ala929Asp)	NC_000022.10:g.29886415C>A	VUS	1 lab	de7dd5950d
9:135202552 SETX G>T	9	135202552	135202552	G	T	SETX	c.4433C>A	NM_001351527.2	NP_001338456.1:p.(Ala1478Glu)	NC_000009.11:g.135202552G>T	VUS	1 lab	de7ee90e87
15:85383201 ALPK3 C>T	15	85383201	85383201	C	T	ALPK3	c.691C>T	NM_020778.5	NP_065829.4:p.(Gln231Ter)	NC_000015.9:g.85383201C>T	(Likely) pathogenic	1 lab	de83435011
16:68853343 CDH1 T>C	16	68853343	68853343	T	C	CDH1	c.1711+15T>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68853343T>C	(Likely) benign	1 lab	de8a847c8c
9:137707765 COL5A1 G>A	9	137707765	137707765	G	A	COL5A1	c.4069-16G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137707765G>A	(Likely) benign	1 lab	de8b22c5e8
4:8869978 HMX1 T>G	4	8869978	8869978	T	G	HMX1	c.488A>C	NM_018942.3	NP_061815.2:p.(Glu163Ala)	NC_000004.11:g.8869978T>G	VUS	1 lab	de8b41b0d9
11:76886487 MYO7A G>A	11	76886487	76886487	G	A	MYO7A	c.2164G>A	NM_000260.4	NP_000251.3:p.(Gly722Ser)	NC_000011.9:g.76886487G>A	(Likely) benign	1 lab	de8b7f3d65
15:85399825 ALPK3 A>T	15	85399825	85399825	A	T	ALPK3	c.1856A>T	NM_020778.5	NP_065829.4:p.(Asp619Val)	NC_000015.9:g.85399825A>T	VUS	1 lab	de8c0a6dac
X:18660223 CDKL5 G>A	X	18660223	18660223	G	A	CDKL5	c.2714-3904G>A	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18660223G>A	(Likely) benign	1 lab	de8c70e61e
14:23855319 MYH6 C>T	14	23855319	23855319	C	T	MYH6	c.4981G>A	NM_002471.4	NP_002462.2:p.(Asp1661Asn)	NC_000014.8:g.23855319C>T	VUS	1 lab	de8f1da9fe
16:919859 LMF1 C>T	16	919859	919859	C	T	LMF1	c.1017+24G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919859C>T	(Likely) benign	1 lab	de9047b149
18:19379923 MIB1 A>G	18	19379923	19379923	A	G	MIB1	c.1359A>G	NM_020774.4	NP_065825.1:p.(Arg453=)	NC_000018.9:g.19379923A>G	(Likely) benign	1 lab	de93182602
3:171362743 PLD1 C>T	3	171362743	171362743	C	T	PLD1	c.2500G>A	NM_002662.5	NP_002653.1:p.(Gly834Ser)	NC_000003.11:g.171362743C>T	VUS	1 lab	de935295bc
12:52188252 SCN8A T>G	12	52188252	52188252	T	G	SCN8A	c.4622T>G	NM_014191.4	NP_055006.1:p.(Val1541Gly)	NC_000012.11:g.52188252T>G	VUS	1 lab	de9697d0f6
15:67477272 SMAD3 A>G	15	67477272	67477272	A	G	SMAD3	c.1009+70A>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67477272A>G	(Likely) benign	1 lab	de9a0df528
2:219676942 CYP27A1 C>T	2	219676942	219676942	C	T	CYP27A1	c.447-3C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219676942C>T	(Likely) pathogenic	1 lab	deb2478167
2:48033332 MSH6 T>G	2	48033332	48033332	T	G	MSH6	c.3647-11T>G	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033332T>G	(Likely) benign	1 lab	de9d1a1179
11:119148880 CBL A>C	11	119148880	119148880	A	C	CBL	c.1100A>C	NM_005188.4	NP_005179.2:p.(Gln367Pro)	NC_000011.9:g.119148880A>C	(Likely) pathogenic	1 lab	de9f1f5541
11:116662283 APOA5 C>T	11	116662283	116662283	C	T	APOA5	c.161+19G>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662283C>T	(Likely) benign	1 lab	dea1269acb
16:15841453 MYH11 C>T	16	15841453	15841453	C	T	MYH11	c.2406G>A	NM_001040113.2	NP_001035202.1:p.(Ala802=)	NC_000016.9:g.15841453C>T	(Likely) benign	1 lab	dea3d028b7
15:48766249 FBN1 C>T	15	48766249	48766249	C	T	FBN1	c.4210+203G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48766249C>T	(Likely) benign	1 lab	dea43f288f
X:32383252 DMD G>A	X	32383252	32383252	G	A	DMD	c.4541C>T	NM_004010.3	NP_004001.1:p.(Ala1514Val)	NC_000023.10:g.32383252G>A	VUS	1 lab	deaad34684
16:2138278 TSC2 C>A	16	2138278	2138278	C	A	TSC2	c.5211C>A	NM_000548.5	NP_000539.2:p.(Pro1737=)	NC_000016.9:g.2138278C>A	(Likely) benign	1 lab	deabce376f
12:121877851 KDM2B C>G	12	121877851	121877851	C	G	KDM2B	c.3638G>C	NM_032590.5	NP_115979.3:p.(Arg1213Pro)	NC_000012.11:g.121877851C>G	(Likely) benign	1 lab	deacf53aeb
17:15200842 MISSING T>Alt too long to show for this DUP	17	15200842	15391659	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.15200843_15391659dup	(Likely) pathogenic	1 lab	dead7370ec
6:32725567 HLA-DQB2 C>T	6	32725567	32725567	C	T	HLA-DQB2	c.740G>A	NM_001300790.2	NP_001287719.1:p.(Arg247His)	NC_000006.11:g.32725567C>T	(Likely) benign	1 lab	deadf67f93
19:40902153 PRX G>A	19	40902153	40902153	G	A	PRX	c.2106C>T	NM_181882.3	NP_870998.2:p.(Pro702=)	NC_000019.9:g.40902153G>A	(Likely) benign	1 lab	deaf31a18d
4:154217059 TRIM2 G>C	4	154217059	154217059	G	C	TRIM2	c.1300G>C	NM_001130067.2	NP_001123539.1:p.(Val434Leu)	NC_000004.11:g.154217059G>C	VUS	1 lab	deb0820821
X:328938 MISSING G>Alt too long to show for this DUP	X	328938	851253	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.328941_851253dup	(Likely) pathogenic	1 lab	deb35fe375
X:153590918 FLNA G>A	X	153590918	153590918	G	A	FLNA	c.2433C>T	NM_001110556.2	NP_001104026.1:p.(Ala811=)	NC_000023.10:g.153590918G>A	(Likely) benign	1 lab	deb3a5327f
8:119123172 EXT1 T>C	8	119123172	119123172	T	C	EXT1	c.114A>G	NM_000127.3	NP_000118.2:p.(Glu38=)	NC_000008.10:g.119123172T>C	(Likely) benign	1 lab	deb566180d
1:235826264 LYST G>A	1	235826264	235826264	G	A	LYST	c.11382C>T	NM_001301365.1	NP_001288294.1:p.(Phe3794=)	NC_000001.10:g.235826264G>A	(Likely) benign	1 lab	deb5cb77a8
16:57949219 CNGB1 C>G	16	57949219	57949219	C	G	CNGB1	c.2238G>C	NM_001297.5	NP_001288.3:p.(Leu746=)	NC_000016.9:g.57949219C>G	(Likely) benign	1 lab	debd597796
14:23893269 MYH7 G>C	14	23893269	23893269	G	C	MYH7	c.2769C>G	NM_000257.4	NP_000248.2:p.(Asn923Lys)	NC_000014.8:g.23893269G>C	(Likely) benign	1 lab	debfe2c882
X:70443721 GJB1 C>G	X	70443721	70443721	C	G	GJB1	c.164C>G	NM_000166.6	NP_000157.1:p.(Thr55Arg)	NC_000023.10:g.70443721C>G	(Likely) pathogenic	1 lab	dec139e865
9:130265163 LRSAM1 C>T	9	130265163	130265163	C	T	LRSAM1	c.2157C>T	NM_138361.5	NP_612370.3:p.(Ile719=)	NC_000009.11:g.130265163C>T	(Likely) benign	1 lab	dec378eed1
15:85399951 ALPK3 T>A	15	85399951	85399951	T	A	ALPK3	c.1982T>A	NM_020778.5	NP_065829.4:p.(Met661Lys)	NC_000015.9:g.85399951T>A	VUS	1 lab	decaf0e54f
16:88495153 ZNF469 C>T	16	88495153	88495153	C	T	ZNF469	c.1275C>T	NM_001367624.2	NP_001354553.1:p.(Thr425=)	NC_000016.9:g.88495153C>T	(Likely) benign	1 lab	decc809cec
17:41245167 BRCA1 G>A	17	41245167	41245167	G	A	BRCA1	c.2381C>T	NM_007294.4	NP_009225.1:p.(Ala794Val)	NC_000017.10:g.41245167G>A	(Likely) benign	1 lab	decd6bfbe2
10:88445430 LDB3 C>T	10	88445430	88445430	C	T	LDB3	c.690-1396C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88445430C>T	(Likely) benign	1 lab	dece968dc5
15:52656869 MYO5A G>A	15	52656869	52656869	G	A	MYO5A	c.3191C>T	NM_000259.3	NP_000250.3:p.(Thr1064Met)	NC_000015.9:g.52656869G>A	VUS	1 lab	decf7f81f5
2:25050404 ADCY3 G>A	2	25050404	25050404	G	A	ADCY3	c.2561+11C>T	NM_001377128.1	NP_001364057.1:p.?	NC_000002.11:g.25050404G>A	(Likely) benign	1 lab	ded3222b81
19:11230214 LDLR T>C	19	11230214	11230214	T	C	LDLR	c.1846-554T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230214T>C	(Likely) benign	1 lab	ded3e83ad9
12:48369407 COL2A1 A>C	12	48369407	48369407	A	C	COL2A1	c.3598-19T>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48369407A>C	(Likely) benign	1 lab	ded5a0c026
2:15468426 NBAS C>T	2	15468426	15468426	C	T	NBAS	c.4358G>A	NM_015909.4	NP_056993.2:p.(Cys1453Tyr)	NC_000002.11:g.15468426C>T	(Likely) benign	1 lab	ded8cf6611
7:150648596 KCNH2 TGCC>T	7	150648596	150648600	TGCC	T	KCNH2	c.1882_1884del	NM_000238.4	NP_000229.1:p.(Gly628del)	NC_000007.13:g.150648598_150648600del	(Likely) pathogenic	1 lab	ded92fc002
7:140477818 BRAF G>A	7	140477818	140477818	G	A	BRAF	c.1490C>T	NM_004333.6	NP_004324.2:p.(Ala497Val)	NC_000007.13:g.140477818G>A	VUS	1 lab	dee1671ad9
22:23046050 MISSING A>Alt too long to show for this DUP	22	23046050	23258370	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.23046052_23258370dup	(Likely) benign	1 lab	e037457588
9:111674748 ELP1 G>C	9	111674748	111674748	G	C	ELP1	c.985C>G	NM_003640.5	NP_003631.2:p.(His329Asp)	NC_000009.11:g.111674748G>C	VUS	1 lab	dee41fec4b
16:57017550 CETP T>TGGGTG	16	57017550	57017553	T	TGGGTG	CETP	c.1456_1457insGTGGG	NM_000078.3	NP_000069.2:p.(Val486GlyfsTer9)	NC_000016.9:g.57017552_57017553insGTGGG	VUS	1 lab	dee568e886
10:12142200 DHTKD1 C>T	10	12142200	12142200	C	T	DHTKD1	c.1695C>T	NM_018706.7	NP_061176.4:p.(Asp565=)	NC_000010.10:g.12142200C>T	(Likely) benign	1 lab	dee7473d2e
12:32976767 PKP2 C>T	12	32976767	32976767	C	T	PKP2	c.1674+212G>A	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32976767C>T	(Likely) benign	1 lab	dee75540f0
5:13781023 DNAH5 C>T	5	13781023	13781023	C	T	DNAH5	c.8866G>A	NM_001369.3	NP_001360.1:p.(Gly2956Arg)	NC_000005.9:g.13781023C>T	VUS	1 lab	dee830a00c
1:181767543 CACNA1E A>G	1	181767543	181767543	A	G	CACNA1E	c.6386A>G	NM_000721.4	NP_000712.2:p.(Tyr2129Cys)	NC_000001.10:g.181767543A>G	(Likely) benign	1 lab	dee8bf8d60
3:49395673 GPX1 GGCC>G	3	49395673	49395693	GGCC	G	GPX1	c.36_38del	NM_201397.3	NP_958799.1:p.?	NC_000003.11:g.49395691_49395693del	(Likely) benign	1 lab	deee14a9ea
9:137690297 COL5A1 G>GA	9	137690297	137690298	G	GA	COL5A1	c.2943dup	NM_000093.5	NP_000084.3:p.(Gly982ArgfsTer32)	NC_000009.11:g.137690298dup	(Likely) pathogenic	1 lab	deef4f2279
9:107665871 ABCA1 C>A	9	107665871	107665871	C	A	ABCA1	c.66+24G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665871C>A	(Likely) benign	1 lab	def9b04f29
1:10363511 KIF1B G>A	1	10363511	10363511	G	A	KIF1B	c.2268G>A	NM_183416.4	NP_904325.2:p.(Arg756=)	NC_000001.10:g.10363511G>A	(Likely) benign	1 lab	defc809c65
1:63068026 ANGPTL3 C>A	1	63068026	63068026	C	A	ANGPTL3	c.906C>A	NM_014495.4	NP_055310.1:p.(Tyr302Ter)	NC_000001.10:g.63068026C>A	(Likely) pathogenic	1 lab	defd06d469
1:237060372 MTR A>G	1	237060372	237060372	A	G	MTR	c.3665A>G	NM_000254.3	NP_000245.2:p.(Asn1222Ser)	NC_000001.10:g.237060372A>G	(Likely) benign	1 lab	defd422dd1
7:94054910 COL1A2 G>A	7	94054910	94054910	G	A	COL1A2	c.2782-12G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94054910G>A	(Likely) benign	1 lab	defd982e7d
8:41806839 KAT6A CAT>C	8	41806839	41806845	CAT	C	KAT6A	c.1639_1640del	NM_006766.5	NP_006757.2:p.(Met547GlufsTer3)	NC_000008.10:g.41806844_41806845del	(Likely) pathogenic	1 lab	df001b1e40
3:87294929 CHMP2B A>G	3	87294929	87294929	A	G	CHMP2B	c.192A>G	NM_014043.4	NP_054762.2:p.(Gln64=)	NC_000003.11:g.87294929A>G	(Likely) benign	1 lab	df02115c6c
10:90974715 LIPA A>G	10	90974715	90974715	A	G	LIPA	c.1070T>C	NM_000235.4	NP_000226.2:p.(Leu357Pro)	NC_000010.10:g.90974715A>G	(Likely) pathogenic	1 lab	df02878655
X:153049589 SRPK3 C>T	X	153049589	153049589	C	T	SRPK3	c.1068C>T	NM_014370.4	NP_055185.2:p.(Ser356=)	NC_000023.10:g.153049589C>T	(Likely) benign	1 lab	df04a94f8e
2:44079767 ABCG8 G>A	2	44079767	44079767	G	A	ABCG8	c.724G>A	NM_022437.3	NP_071882.1:p.(Gly242Arg)	NC_000002.11:g.44079767G>A	VUS	1 lab	df0649e01b
X:21627515 CNKSR2 C>T	X	21627515	21627515	C	T	CNKSR2	c.2472C>T	NM_014927.5	NP_055742.2:p.(Tyr824=)	NC_000023.10:g.21627515C>T	(Likely) benign	1 lab	df088943c3
14:102466497 DYNC1H1 G>A	14	102466497	102466497	G	A	DYNC1H1	c.3960+16G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102466497G>A	(Likely) benign	1 lab	df09eda70d
10:90983501 LIPA C>G	10	90983501	90983501	C	G	LIPA	c.762G>C	NM_000235.4	NP_000226.2:p.(Lys254Asn)	NC_000010.10:g.90983501C>G	(Likely) benign	1 lab	df0b19c4fe
19:49669448 TRPM4 G>C	19	49669448	49669448	G	C	TRPM4	c.243G>C	NM_017636.4	NP_060106.2:p.(Thr81=)	NC_000019.9:g.49669448G>C	(Likely) benign	1 lab	df0dea458b
4:187084714 MISSING Ref too long to show for this DEL>T	4	187084714	190804548	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.187084717_190804548del	(Likely) pathogenic	1 lab	df0f305078
11:64520608 PYGM G>T	11	64520608	64520608	G	T	PYGM	c.1455C>A	NM_005609.4	NP_005600.1:p.(Asn485Lys)	NC_000011.9:g.64520608G>T	VUS	1 lab	df0fedeafb
7:624211 PRKAR1B C>T	7	624211	624211	C	T	PRKAR1B	c.709-6G>A	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.624211C>T	(Likely) benign	1 lab	df1335a15d
21:46925142 COL18A1 G>GCCCCCCGGC	21	46925142	46925149	G	GCCCCCCGGC	COL18A1	c.2969_2970insGGCCCCCCC	NM_001379500.1	NP_001366429.1:p.(Pro990_Gly991insAlaProPro)	NC_000021.8:g.46925148_46925149insGGCCCCCCC	(Likely) benign	1 lab	df14dfc171
2:220497019 SLC4A3 C>T	2	220497019	220497019	C	T	SLC4A3	c.1077C>T	NM_201574.3	NP_963868.3:p.(Arg359=)	NC_000002.11:g.220497019C>T	(Likely) benign	1 lab	df15121fe5
16:81396287 GAN C>T	16	81396287	81396287	C	T	GAN	c.1086+71C>T	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81396287C>T	(Likely) benign	1 lab	df163036a7
11:116706840 APOA1 T>C	11	116706840	116706840	T	C	APOA1	c.488A>G	NM_000039.3	NP_000030.1:p.(Glu163Gly)	NC_000011.9:g.116706840T>C	VUS	1 lab	df16baec4f
19:47258768 FKRP C>T	19	47258768	47258768	C	T	FKRP	c.61C>T	NM_001039885.3	NP_001034974.1:p.(Leu21Phe)	NC_000019.9:g.47258768C>T	VUS	1 lab	df1be831b3
2:30814683 LCLAT1 Ref too long to show for this DEL>G	2	30814683	30848349	Ref too long to show for this DEL	G	LCLAT1	c.628+23642_629-14634del	NM_001002257.3	NP_001002257.1:p.?	NC_000002.11:g.30814684_30848349del	VUS	1 lab	df1c970f4e
2:141491319 LRP1B Ref too long to show for this DEL>A	2	141491319	141863107	Ref too long to show for this DEL	A	LRP1B	c.1014-43265_5759-16935del	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141491320_141863107del	VUS	1 lab	df1ebb47fd
8:133192501 KCNQ3 C>T	8	133192501	133192501	C	T	KCNQ3	c.680G>A	NM_004519.4	NP_004510.1:p.(Arg227Gln)	NC_000008.10:g.133192501C>T	VUS	1 lab	df1f25468e
6:152456262 SYNE1 G>A	6	152456262	152456262	G	A	SYNE1	c.25765C>T	NM_182961.4	NP_892006.3:p.(Gln8589Ter)	NC_000006.11:g.152456262G>A	(Likely) pathogenic	1 lab	df208d06e8
11:47364959 MYBPC3 G>A	11	47364959	47364959	G	A	MYBPC3	c.1223+84C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364959G>A	(Likely) benign	1 lab	df2265a968
18:29104691 DSG2 A>C	18	29104691	29104691	A	C	DSG2	c.854A>C	NM_001943.5	NP_001934.2:p.(Gln285Pro)	NC_000018.9:g.29104691A>C	VUS	1 lab	df239c4c05
22:31333621 MORC2 G>C	22	31333621	31333621	G	C	MORC2	c.1261C>G	NM_014941.3	NP_055756.1:p.(Leu421Val)	NC_000022.10:g.31333621G>C	VUS	1 lab	df256aab99
16:88798845 PIEZO1 G>C	16	88798845	88798845	G	C	PIEZO1	c.2889C>G	NM_001142864.4	NP_001136336.2:p.(Ala963=)	NC_000016.9:g.88798845G>C	(Likely) benign	1 lab	df262a9a47
17:1580009 PRPF8 A>G	17	1580009	1580009	A	G	PRPF8	c.2182-4T>C	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1580009A>G	(Likely) benign	1 lab	df2a9ac156
2:44071625 ABCG8 C>A	2	44071625	44071625	C	A	ABCG8	c.64-21C>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071625C>A	(Likely) benign	1 lab	df2b8b4aa0
1:16912133 NBPF1 G>A	1	16912133	16912133	G	A	NBPF1	c.839C>T	NM_017940.6	NP_060410.3:p.(Ser280Phe)	NC_000001.10:g.16912133G>A	(Likely) benign	1 lab	df2f44a626
1:12921568 PRAMEF2 C>T	1	12921568	12921568	C	T	PRAMEF2	c.1359C>T	NM_023014.1	NP_075390.1:p.(Gly453=)	NC_000001.10:g.12921568C>T	(Likely) benign	1 lab	df341015a3
12:123738275 MTRFR G>A	12	123738275	123738275	G	A	MTRFR	c.54G>A	NM_001194995.1	NP_001181924.1:p.(Pro18=)	NC_000012.11:g.123738275G>A	(Likely) benign	1 lab	df39c3cca0
2:179463366 TTN G>A	2	179463366	179463366	G	A	TTN	c.56978C>T	NM_001267550.2	NP_001254479.2:p.(Pro18993Leu)	NC_000002.11:g.179463366G>A	VUS	1 lab	df3b9cf57e
2:27703010 IFT172 C>T	2	27703010	27703010	C	T	IFT172	c.792G>A	NM_015662.3	NP_056477.1:p.(Arg264=)	NC_000002.11:g.27703010C>T	(Likely) benign	1 lab	df3d3de0e9
2:220497702 SLC4A3 C>T	2	220497702	220497702	C	T	SLC4A3	c.1329C>T	NM_001326559.2	NP_001313488.2:p.(Ser443=)	NC_000002.11:g.220497702C>T	(Likely) benign	1 lab	df43a0ef41
6:7542250 DSP C>T	6	7542250	7542250	C	T	DSP	c.102C>T	NM_004415.4	NP_004406.2:p.(Gly34=)	NC_000006.11:g.7542250C>T	(Likely) benign	1 lab	df44e73c18
11:63413962 ATL3 AAAAT>A	11	63413962	63413971	AAAAT	A	ATL3	c.618+13_618+16del	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63413968_63413971del	(Likely) benign	1 lab	df482e7829
3:100976417 IMPG2 T>C	3	100976417	100976417	T	C	IMPG2	c.1109A>G	NM_016247.4	NP_057331.2:p.(Asn370Ser)	NC_000003.11:g.100976417T>C	VUS	1 lab	df48822108
6:32010732 TNXB T>G	6	32010732	32010732	T	G	TNXB	c.11915A>C	NM_019105.8	NP_061978.6:p.(Asn3972Thr)	NC_000006.11:g.32010732T>G	(Likely) benign	1 lab	df496757cd
17:78367224 MISSING Ref too long to show for this DEL>G	17	78367224	78398120	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.78367225_78398120del	VUS	1 lab	df49fdbc4b
11:6976984 ZNF215 G>A	11	6976984	6976984	G	A	ZNF215	c.776G>A	NM_013250.4	NP_037382.2:p.(Ser259Asn)	NC_000011.9:g.6976984G>A	(Likely) benign	1 lab	df4a93b868
6:32023884 TNXB C>T	6	32023884	32023884	C	T	TNXB	c.8211G>A	NM_019105.8	NP_061978.6:p.(Pro2737=)	NC_000006.11:g.32023884C>T	(Likely) benign	1 lab	df4bd4a165
17:1585560 PRPF8 G>A	17	1585560	1585560	G	A	PRPF8	c.297C>T	NM_006445.4	NP_006436.3:p.(Val99=)	NC_000017.10:g.1585560G>A	(Likely) benign	1 lab	df4bd75e7f
9:108382313 FKTN C>G	9	108382313	108382313	C	G	FKTN	c.747C>G	NM_001351502.2	NP_001338431.1:p.(Gly249=)	NC_000009.11:g.108382313C>G	(Likely) benign	1 lab	df4d46ba89
8:145625158 CPSF1 A>G	8	145625158	145625158	A	G	CPSF1	c.1119+13T>C	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145625158A>G	(Likely) benign	1 lab	df4d7674e7
1:201330438 TNNT2 A>G	1	201330438	201330438	A	G	TNNT2	c.749T>C	NM_001001430.3	NP_001001430.1:p.(Leu250Pro)	NC_000001.10:g.201330438A>G	VUS	1 lab	df5107d0c2
10:28274145 ODAD2 C>CA	10	28274145	28274159	C	CA	ODAD2	c.383-6dup	NM_001290020.2	NP_001276949.1:p.?	NC_000010.10:g.28274159dup	(Likely) benign	1 lab	df52bb0aeb
14:81606214 TSHR A>G	14	81606214	81606214	A	G	TSHR	c.881+3A>G	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81606214A>G	(Likely) benign	1 lab	df55cab054
4:121720829 PRDM5 C>T	4	121720829	121720829	C	T	PRDM5	c.1017G>A	NM_018699.4	NP_061169.2:p.(Met339Ile)	NC_000004.11:g.121720829C>T	VUS	1 lab	df57339ac4
13:49027140 RB1 A>G	13	49027140	49027140	A	G	RB1	c.1707A>G	NM_000321.3	NP_000312.2:p.(Leu569=)	NC_000013.10:g.49027140A>G	(Likely) benign	1 lab	df58d7102d
3:194093985 MISSING G>Alt too long to show for this DUP	3	194093985	194476079	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.194093987_194476079dup	VUS	1 lab	df5d56cd4f
1:6532574 PLEKHG5 A>G	1	6532574	6532574	A	G	PLEKHG5	c.1080+13T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6532574A>G	(Likely) benign	1 lab	df6042ab60
10:18803205 CACNB2 T>C	10	18803205	18803205	T	C	CACNB2	c.546T>C	NM_000724.4	NP_000715.2:p.(Asn182=)	NC_000010.10:g.18803205T>C	(Likely) benign	1 lab	df66379947
1:10428581 KIF1B C>T	1	10428581	10428581	C	T	KIF1B	c.4671C>T	NM_015074.3	NP_055889.2:p.(Ser1557=)	NC_000001.10:g.10428581C>T	(Likely) benign	1 lab	df6695efe5
4:79792082 BMP2K C>CCAG	4	79792082	79792108	C	CCAG	BMP2K	c.1401_1403dup	NM_198892.2	NP_942595.1:p.(Gln486dup)	NC_000004.11:g.79792106_79792108dup	(Likely) benign	1 lab	df6c263746
16:57016314 CETP A>G	16	57016314	57016314	A	G	CETP	c.1321+165A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57016314A>G	(Likely) benign	1 lab	df6fd5bb3c
6:35043094 MISSING Ref too long to show for this DEL>A	6	35043094	35476087	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.35043095_35476087del	VUS	1 lab	df7068a873
5:127686701 FBN2 A>C	5	127686701	127686701	A	C	FBN2	c.2675-4T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127686701A>C	(Likely) benign	1 lab	df78acf513
2:73717783 ALMS1 T>C	2	73717783	73717783	T	C	ALMS1	c.8700T>C	NM_015120.4	NP_055935.4:p.(His2900=)	NC_000002.11:g.73717783T>C	(Likely) benign	1 lab	df7d3bef87
2:55420835 CLHC1 Ref too long to show for this DEL>A	2	55420835	55449759	Ref too long to show for this DEL	A	CLHC1	c.-82-130_1007-11956del	NM_152385.4	NP_689598.2:p.?	NC_000002.11:g.55420836_55449759del	VUS	1 lab	df82cccad9
3:36605078 MISSING T>Alt too long to show for this DUP	3	36605078	36780685	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.36605080_36780685dup	VUS	1 lab	df8936c8e3
9:135203803 SETX G>A	9	135203803	135203803	G	A	SETX	c.3182C>T	NM_015046.7	NP_055861.3:p.(Pro1061Leu)	NC_000009.11:g.135203803G>A	(Likely) benign	1 lab	df8b711df9
2:179472970 TTN T>C	2	179472970	179472970	T	C	TTN	c.52640A>G	NM_001267550.2	NP_001254479.2:p.(Glu17547Gly)	NC_000002.11:g.179472970T>C	VUS	1 lab	df8e11ba44
12:64882257 TBK1 CT>C	12	64882257	64882264	CT	C	TBK1	c.1341-3del	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64882264del	(Likely) benign	1 lab	df8e68bb95
22:50894987 SBF1 G>A	22	50894987	50894987	G	A	SBF1	c.4020C>T	NM_002972.4	NP_002963.2:p.(Pro1340=)	NC_000022.10:g.50894987G>A	(Likely) benign	1 lab	df8e6f448f
16:2122380 TSC2 T>C	16	2122380	2122380	T	C	TSC2	c.2220+16T>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2122380T>C	(Likely) benign	1 lab	df8ee55c5f
10:90975692 LIPA T>A	10	90975692	90975692	T	A	LIPA	c.966+3A>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975692T>A	VUS	1 lab	df92b1bc82
2:179481561 TTN C>T	2	179481561	179481561	C	T	TTN	c.48055G>A	NM_001267550.2	NP_001254479.2:p.(Glu16019Lys)	NC_000002.11:g.179481561C>T	VUS	1 lab	df971f2a63
4:15909407 MISSING A>Alt too long to show for this DUP	4	15909407	16008289	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.15909408_16008289dup	VUS	1 lab	df98c0225a
11:1017793 MUC6 T>G	11	1017793	1017793	T	G	MUC6	c.5008A>C	NM_005961.3	NP_005952.2:p.(Thr1670Pro)	NC_000011.9:g.1017793T>G	(Likely) benign	1 lab	df99a2ac46
9:72658514 MISSING G>Alt too long to show for this DUP	9	72658514	72861693	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.72658516_72861693dup	VUS	1 lab	df9e43cfc2
20:741874 SLC52A3 C>G	20	741874	741874	C	G	SLC52A3	c.1206G>C	NM_033409.4	NP_212134.3:p.(Ser402=)	NC_000020.10:g.741874C>G	(Likely) benign	1 lab	dfa223860d
3:53837619 CACNA1D G>T	3	53837619	53837619	G	T	CACNA1D	c.5645+20G>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53837619G>T	(Likely) benign	1 lab	dfa778ddd4
16:57015084 CETP C>G	16	57015084	57015084	C	G	CETP	c.1161C>G	NM_000078.3	NP_000069.2:p.(Thr387=)	NC_000016.9:g.57015084C>G	(Likely) benign	1 lab	dfaaf0aceb
12:5153946 KCNA5 G>C	12	5153946	5153946	G	C	KCNA5	c.633G>C	NM_002234.4	NP_002225.2:p.(Glu211Asp)	NC_000012.11:g.5153946G>C	(Likely) benign	1 lab	dfac305848
X:133086176 GPC3 A>Alt too long to show for this DUP	X	133086176	133090740	A	Alt too long to show for this DUP	GPC3	c.176-3500_337+900dup	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.133086179_133090740dup	VUS	1 lab	dfb033fa2e
9:107592977 ABCA1 A>T	9	107592977	107592977	A	T	ABCA1	c.1892+229T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107592977A>T	(Likely) benign	1 lab	dfb03a9fe7
5:178553044 ADAMTS2 T>C	5	178553044	178553044	T	C	ADAMTS2	c.2705A>G	NM_014244.5	NP_055059.2:p.(Lys902Arg)	NC_000005.9:g.178553044T>C	VUS	1 lab	dfb26676e8
8:10014084 MSRA Ref too long to show for this DEL>A	8	10014084	10141623	Ref too long to show for this DEL	A	MSRA	c.143-51258_332-17421del	NM_012331.5	NP_036463.1:p.?	NC_000008.10:g.10014085_10141623del	VUS	1 lab	dfb2bd076e
4:114179296 ANK2 A>G	4	114179296	114179296	A	G	ANK2	c.1279A>G	NM_001148.6	NP_001139.3:p.(Ile427Val)	NC_000004.11:g.114179296A>G	VUS	1 lab	dfb3556dda
1:87558257 HS2ST1 G>T	1	87558257	87558257	G	T	HS2ST1	c.493G>T	NM_012262.4	NP_036394.1:p.(Asp165Tyr)	NC_000001.10:g.87558257G>T	VUS	1 lab	dfb3b54a30
2:86305029 POLR1A T>C	2	86305029	86305029	T	C	POLR1A	c.1333A>G	NM_015425.6	NP_056240.2:p.(Ile445Val)	NC_000002.11:g.86305029T>C	VUS	1 lab	dfb403b48e
15:45398509 DUOX2 G>A	15	45398509	45398509	G	A	DUOX2	c.1962C>T	NM_014080.5	NP_054799.4:p.(Gly654=)	NC_000015.9:g.45398509G>A	(Likely) benign	1 lab	dfba6aa462
16:1021004 LMF1 AGGCCCCGCCCATTCTC>A	16	1021004	1021022	AGGCCCCGCCCATTCTC	A	LMF1	c.-362+10125_-362+10140del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021007_1021022del	(Likely) benign	1 lab	dfbb279a97
4:114279615 ANK2 C>G	4	114279615	114279615	C	G	ANK2	c.9841C>G	NM_001148.6	NP_001139.3:p.(Gln3281Glu)	NC_000004.11:g.114279615C>G	VUS	1 lab	dfc0477dd6
1:6157434 KCNAB2 C>T	1	6157434	6157434	C	T	KCNAB2	c.1158+17C>T	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6157434C>T	(Likely) benign	1 lab	dfc1220035
11:18332921 HPS5 A>T	11	18332921	18332921	A	T	HPS5	c.284+13T>A	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18332921A>T	(Likely) benign	1 lab	dfc19d4c58
4:100543904 MTTP G>A	4	100543904	100543904	G	A	MTTP	c.2584G>A	NM_000253.4	NP_000244.2:p.(Val862Ile)	NC_000004.11:g.100543904G>A	VUS	1 lab	dfcbfb47e3
7:154379683 DPP6 G>T	7	154379683	154379683	G	T	DPP6	c.951G>T	NM_001290253.2	NP_001277182.1:p.(Gln317His)	NC_000007.13:g.154379683G>T	VUS	1 lab	dfcccd626b
2:1480878 TPO G>A	2	1480878	1480878	G	A	TPO	c.840G>A	NM_000547.6	NP_000538.3:p.(Pro280=)	NC_000002.11:g.1480878G>A	(Likely) benign	1 lab	dfcdd9069c
2:21238029 APOB C>T	2	21238029	21238029	C	T	APOB	c.3612G>A	NM_000384.3	NP_000375.3:p.(Leu1204=)	NC_000002.11:g.21238029C>T	(Likely) benign	1 lab	dfcf20129e
8:19816888 LPL C>T	8	19816888	19816888	C	T	LPL	c.1136C>T	NM_000237.3	NP_000228.1:p.(Thr379Ile)	NC_000008.10:g.19816888C>T	(Likely) benign	1 lab	dfcf2b54a3
1:215953273 USH2A G>A	1	215953273	215953273	G	A	USH2A	c.10851C>T	NM_206933.4	NP_996816.3:p.(Asn3617=)	NC_000001.10:g.215953273G>A	(Likely) benign	1 lab	dfcf83c4f4
2:220078234 ABCB6 G>A	2	220078234	220078234	G	A	ABCB6	c.1656-10C>T	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220078234G>A	(Likely) benign	1 lab	dfd431406b
14:23858217 MYH6 G>T	14	23858217	23858217	G	T	MYH6	c.4026C>A	NM_002471.4	NP_002462.2:p.(Cys1342Ter)	NC_000014.8:g.23858217G>T	VUS	1 lab	dfd639046a
9:107588135 ABCA1 A>G	9	107588135	107588135	A	G	ABCA1	c.2371T>C	NM_005502.4	NP_005493.2:p.(Cys791Arg)	NC_000009.11:g.107588135A>G	VUS	1 lab	dfd6ac5a52
15:72069673 THSD4 G>A	15	72069673	72069673	G	A	THSD4	c.3017G>A	NM_024817.2	NP_079093.2:p.(Arg1006His)	NC_000015.9:g.72069673G>A	(Likely) benign	1 lab	dfd6bd77d5
15:63356304 TPM1 G>A	15	63356304	63356304	G	A	TPM1	c.706G>A	NM_001365781.2	NP_001352710.1:p.(Glu236Lys)	NC_000015.9:g.63356304G>A	VUS	1 lab	dfd7ef9364
20:14215775 MACROD2 Ref too long to show for this DEL>T	20	14215775	14823472	Ref too long to show for this DEL	T	MACROD2	c.271+149402_418+157867del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14215776_14823472del	VUS	1 lab	dfd97130d0
19:11211077 LDLR G>A	19	11211077	11211077	G	A	LDLR	c.190+56G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211077G>A	(Likely) benign	1 lab	dfdba0d90d
16:67976437 LCAT C>T	16	67976437	67976437	C	T	LCAT	c.577G>A	NM_000229.2	NP_000220.1:p.(Ala193Thr)	NC_000016.9:g.67976437C>T	(Likely) benign	1 lab	dfdd5b82a9
17:44061023 MAPT G>A	17	44061023	44061023	G	A	MAPT	c.853G>A	NM_001123066.4	NP_001116538.2:p.(Asp285Asn)	NC_000017.10:g.44061023G>A	(Likely) benign	1 lab	dfe0a355be
12:987533 WNK1 C>CTT	12	987533	987548	C	CTT	WNK1	c.3612+20_3612+21dup	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.987547_987548dup	(Likely) benign	1 lab	dfe1b6bc17
9:94809503 SPTLC1 CAG>C	9	94809503	94809505	CAG	C	SPTLC1	c.1030_1031del	NM_006415.4	NP_006406.1:p.(Leu344ValfsTer7)	NC_000009.11:g.94809504_94809505del	VUS	1 lab	dfe33d156e
X:152719969 HAUS7 GGGGA>G	X	152719969	152720006	GGGGA	G	HAUS7	c.1108-7_1108-4del	NM_001385483.1	NP_001372412.1:p.?	NC_000023.10:g.152720003_152720006del	(Likely) benign	1 lab	dfe7e68d10
2:179634855 TTN G>A	2	179634855	179634855	G	A	TTN	c.8573C>T	NM_001267550.2	NP_001254479.2:p.(Pro2858Leu)	NC_000002.11:g.179634855G>A	VUS	1 lab	dfe83a7ef8
2:29451811 ALK T>C	2	29451811	29451811	T	C	ALK	c.2754A>G	NM_004304.5	NP_004295.2:p.(Arg918=)	NC_000002.11:g.29451811T>C	(Likely) benign	1 lab	dfee225854
11:118959973 HMBS A>T	11	118959973	118959973	A	T	HMBS	c.257A>T	NM_000190.4	NP_000181.2:p.(Glu86Val)	NC_000011.9:g.118959973A>T	(Likely) benign	1 lab	dff2a80633
7:81434936 MISSING Ref too long to show for this DEL>A	7	81434936	82146876	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.81434941_82146876del	(Likely) pathogenic	1 lab	dff4d307e7
7:98559094 TRRAP C>T	7	98559094	98559094	C	T	TRRAP	c.6700C>T	NM_001375524.1	NP_001362453.1:p.(Pro2234Ser)	NC_000007.13:g.98559094C>T	VUS	1 lab	dffb449c10
18:25756933 CDH2 C>T	18	25756933	25756933	C	T	CDH2	c.54G>A	NM_001792.5	NP_001783.2:p.(Leu18=)	NC_000018.9:g.25756933C>T	(Likely) benign	1 lab	e0009be9c0
11:76885900 MYO7A C>T	11	76885900	76885900	C	T	MYO7A	c.2034C>T	NM_000260.4	NP_000251.3:p.(Phe678=)	NC_000011.9:g.76885900C>T	(Likely) benign	1 lab	e001ab26be
19:58498557 MISSING Ref too long to show for this DEL>T	19	58498557	58547808	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.58498558_58547808del	VUS	1 lab	e002a41ec4
16:1020948 LMF1 G>A	16	1020948	1020948	G	A	LMF1	c.33C>T	NM_022773.4	NP_073610.2:p.(Pro11=)	NC_000016.9:g.1020948G>A	(Likely) benign	1 lab	e006d94c1b
4:114276680 ANK2 C>T	4	114276680	114276680	C	T	ANK2	c.6906C>T	NM_001148.6	NP_001139.3:p.(Thr2302=)	NC_000004.11:g.114276680C>T	(Likely) benign	1 lab	e007566f8a
16:28883109 SH2B1 G>T	16	28883109	28883109	G	T	SH2B1	c.1318G>T	NM_015503.3	NP_056318.2:p.(Gly440Trp)	NC_000016.9:g.28883109G>T	VUS	1 lab	e008b13fa3
15:45392043 DUOX2 C>T	15	45392043	45392043	C	T	DUOX2	c.3232G>A	NM_014080.5	NP_054799.4:p.(Val1078Met)	NC_000015.9:g.45392043C>T	VUS	1 lab	e00907f84c
1:38056362 GNL2 A>T	1	38056362	38056362	A	T	GNL2	c.329T>A	NM_013285.3	NP_037417.1:p.(Val110Asp)	NC_000001.10:g.38056362A>T	VUS	1 lab	e00b740bba
4:7669696 MISSING A>Alt too long to show for this DUP	4	7669696	7776459	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.7669697_7776459dup	VUS	1 lab	e00ce43d5a
6:65612289 EYS T>G	6	65612289	65612289	T	G	EYS	c.2738+8A>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65612289T>G	(Likely) benign	1 lab	e0109f0415
X:153592466 FLNA T>TA	X	153592466	153592467	T	TA	FLNA	c.2203dup	NM_001110556.2	NP_001104026.1:p.(Tyr735LeufsTer87)	NC_000023.10:g.153592467dup	(Likely) pathogenic	1 lab	e01326bd4a
18:34182699 FHOD3 C>T	18	34182699	34182699	C	T	FHOD3	c.781C>T	NM_001281740.3	NP_001268669.1:p.(Leu261=)	NC_000018.9:g.34182699C>T	(Likely) benign	1 lab	e0142d2540
1:160213747 DCAF8 T>C	1	160213747	160213747	T	C	DCAF8	c.49+3A>G	NM_015726.4	NP_056541.2:p.?	NC_000001.10:g.160213747T>C	(Likely) benign	1 lab	e0145ed75f
15:80445513 FAH GGGAGT>G	15	80445513	80445556	GGGAGT	G	FAH	c.81+75_81+79del	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80445552_80445556del	(Likely) benign	1 lab	e014c22c2e
2:179587168 TTN T>G	2	179587168	179587168	T	G	TTN	c.22346A>C	NM_001267550.2	NP_001254479.2:p.(Gln7449Pro)	NC_000002.11:g.179587168T>G	VUS	1 lab	e017f17103
3:38629014 SCN5A G>A	3	38629014	38629014	G	A	SCN5A	c.2313C>T	NM_198056.3	NP_932173.1:p.(Leu771=)	NC_000003.11:g.38629014G>A	(Likely) benign	1 lab	e018fc3300
16:2129316 TSC2 C>G	16	2129316	2129316	C	G	TSC2	c.3171C>G	NM_000548.5	NP_000539.2:p.(Thr1057=)	NC_000016.9:g.2129316C>G	(Likely) benign	1 lab	e01afb80b3
16:910624 LMF1 G>A	16	910624	910624	G	A	LMF1	c.1530-5918C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.910624G>A	(Likely) benign	1 lab	e01bc481ae
16:68732282 CDH3 C>T	16	68732282	68732282	C	T	CDH3	c.2304C>T	NM_001317196.2	NP_001304125.1:p.(Tyr768=)	NC_000016.9:g.68732282C>T	(Likely) benign	1 lab	e023a31694
1:216246286 USH2A C>T	1	216246286	216246286	C	T	USH2A	c.5802G>A	NM_206933.4	NP_996816.3:p.(Ser1934=)	NC_000001.10:g.216246286C>T	(Likely) benign	1 lab	e023bdf174
13:111917744 MISSING A>Alt too long to show for this DUP	13	111917744	112129927	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.111917746_112129927dup	VUS	1 lab	e0241ae2e5
5:7534087 ADCY2 Ref too long to show for this DEL>G	5	7534087	7598868	Ref too long to show for this DEL	G	ADCY2	c.570+13077_571-27412del	NM_020546.3	NP_065433.2:p.?	NC_000005.9:g.7534089_7598868del	VUS	1 lab	e025901e49
10:112541426 RBM20 G>A	10	112541426	112541426	G	A	RBM20	c.1059G>A	NM_001134363.3	NP_001127835.2:p.(Glu353=)	NC_000010.10:g.112541426G>A	(Likely) benign	1 lab	e0290ade2f
4:119673136 SEC24D G>A	4	119673136	119673136	G	A	SEC24D	c.1710+15C>T	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119673136G>A	(Likely) benign	1 lab	e02aa5b0df
16:50825459 CYLD G>A	16	50825459	50825459	G	A	CYLD	c.2109-10G>A	NM_015247.3	NP_056062.1:p.?	NC_000016.9:g.50825459G>A	(Likely) benign	1 lab	e02f1b5ba8
9:101611371 GALNT12 A>G	9	101611371	101611371	A	G	GALNT12	c.1743A>G	NM_024642.5	NP_078918.3:p.(Leu581=)	NC_000009.11:g.101611371A>G	(Likely) benign	1 lab	e02f5a9dc8
19:11228726 LDLR C>G	19	11228726	11228726	C	G	LDLR	c.1845+1052C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228726C>G	(Likely) benign	1 lab	e0308545e5
1:218543427 TGFB2 C>T	1	218543427	218543427	C	T	TGFB2	c.346+23038C>T	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218543427C>T	(Likely) benign	1 lab	e030d0100b
6:75887366 COL12A1 A>G	6	75887366	75887366	A	G	COL12A1	c.2437+13T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75887366A>G	(Likely) benign	1 lab	e031f22224
17:76101349 MISSING G>Alt too long to show for this DUP	17	76101349	76851816	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.76101350_76851816dup	VUS	1 lab	e03236a64b
X:48382250 MISSING Ref too long to show for this DEL>A	X	48382250	48752598	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.48382251_48752598del	(Likely) pathogenic	1 lab	e036130ef3
12:124326111 DNAH10 A>G	12	124326111	124326111	A	G	DNAH10	c.5006+19A>G	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124326111A>G	(Likely) benign	1 lab	e0363ee0e8
19:1219344 STK11 C>T	19	1219344	1219344	C	T	STK11	c.396C>T	NM_000455.5	NP_000446.1:p.(Cys132=)	NC_000019.9:g.1219344C>T	(Likely) benign	1 lab	e038b9fefe
1:12064087 MFN2 G>A	1	12064087	12064087	G	A	MFN2	c.1199G>A	NM_014874.4	NP_055689.1:p.(Arg400Gln)	NC_000001.10:g.12064087G>A	VUS	1 lab	e039ebf221
14:21794221 RPGRIP1 C>T	14	21794221	21794221	C	T	RPGRIP1	c.2599C>T	NM_020366.4	NP_065099.3:p.(Arg867Trp)	NC_000014.8:g.21794221C>T	(Likely) benign	1 lab	e03d1a0333
3:38936134 SCN11A C>T	3	38936134	38936134	C	T	SCN11A	c.2725G>A	NM_014139.3	NP_054858.2:p.(Val909Ile)	NC_000003.11:g.38936134C>T	(Likely) benign	1 lab	e03efd66f2
17:59761515 BRIP1 AATT>A	17	59761515	59761518	AATT	A	BRIP1	c.2906-17_2906-15del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59761516_59761518del	(Likely) benign	1 lab	e04327f12a
19:11227097 LDLR C>T	19	11227097	11227097	C	T	LDLR	c.1705+209C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227097C>T	(Likely) benign	1 lab	e0458c233b
1:46658564 POMGNT1 C>A	1	46658564	46658564	C	A	POMGNT1	c.1211+8G>T	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46658564C>A	(Likely) benign	1 lab	e047a3ca4f
15:26793032 GABRB3 C>T	15	26793032	26793032	C	T	GABRB3	c.1075G>A	NM_001278631.2	NP_001265560.1:p.(Asp359Asn)	NC_000015.9:g.26793032C>T	VUS	1 lab	e047f78de0
12:48393847 COL2A1 C>T	12	48393847	48393847	C	T	COL2A1	c.147G>A	NM_001844.5	NP_001835.3:p.(Pro49=)	NC_000012.11:g.48393847C>T	(Likely) benign	1 lab	e0492ce869
17:44096111 MAPT G>T	17	44096111	44096111	G	T	MAPT	c.1110+15G>T	NM_005910.6	NP_005901.2:p.?	NC_000017.10:g.44096111G>T	(Likely) benign	1 lab	e04a7265bd
7:91670136 AKAP9 G>A	7	91670136	91670136	G	A	AKAP9	c.4841G>A	NM_005751.5	NP_005742.4:p.(Arg1614Gln)	NC_000007.13:g.91670136G>A	(Likely) benign	1 lab	e04b3e1efc
16:1412686 GNPTG C>G	16	1412686	1412686	C	G	GNPTG	c.684C>G	NM_032520.5	NP_115909.1:p.(Thr228=)	NC_000016.9:g.1412686C>G	(Likely) benign	1 lab	e04f17813a
19:50762542 MYH14 C>CA	19	50762542	50762543	C	CA	MYH14	c.2354+21dup	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50762543dup	(Likely) benign	1 lab	e04f275ca5
9:95477739 BICD2 G>A	9	95477739	95477739	G	A	BICD2	c.2265C>T	NM_001003800.2	NP_001003800.1:p.(Asp755=)	NC_000009.11:g.95477739G>A	(Likely) benign	1 lab	e052caec9b
12:122257478 SETD1B T>A	12	122257478	122257478	T	A	SETD1B	c.3587T>A	NM_001353345.2	NP_001340274.1:p.(Val1196Glu)	NC_000012.11:g.122257478T>A	(Likely) benign	1 lab	e054e6dace
3:93519464 MISSING Ref too long to show for this DEL>C	3	93519464	93626271	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.93519465_93626271del	(Likely) pathogenic	1 lab	e0567d9681
2:179399478 TTN A>G	2	179399478	179399478	A	G	TTN	c.101864T>C	NM_001267550.2	NP_001254479.2:p.(Ile33955Thr)	NC_000002.11:g.179399478A>G	VUS	1 lab	e05809528c
8:6161228 MISSING A>Alt too long to show for this DUP	8	6161228	6294729	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.6161229_6294729dup	VUS	1 lab	e0580fdabc
6:157529008 ARID1B C>T	6	157529008	157529008	C	T	ARID1B	c.4603C>T	NM_001363725.2	NP_001350654.1:p.(Gln1535Ter)	NC_000006.11:g.157529008C>T	VUS	1 lab	e058f01d8a
12:120785265 MSI1 AGCCGCTGCC>A	12	120785265	120785288	AGCCGCTGCC	A	MSI1	c.834_842del	NM_002442.4	NP_002433.1:p.(Ala279_Ala281del)	NC_000012.11:g.120785280_120785288del	VUS	1 lab	e059c3c127
16:1020932 LMF1 T>C	16	1020932	1020932	T	C	LMF1	c.49A>G	NM_022773.4	NP_073610.2:p.(Arg17Gly)	NC_000016.9:g.1020932T>C	VUS	1 lab	e05ad8e1e7
14:23886391 MYH7 G>T	14	23886391	23886391	G	T	MYH7	c.4490C>A	NM_000257.4	NP_000248.2:p.(Thr1497Asn)	NC_000014.8:g.23886391G>T	VUS	1 lab	e05af4d07a
18:34232797 FHOD3 C>T	18	34232797	34232797	C	T	FHOD3	c.1551C>T	NM_001281740.3	NP_001268669.1:p.(Tyr517=)	NC_000018.9:g.34232797C>T	(Likely) benign	1 lab	e05d374554
11:68249138 MISSING G>Alt too long to show for this DUP	11	68249138	68516100	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.68249140_68516100dup	VUS	1 lab	e05df83043
1:214556810 PTPN14 C>T	1	214556810	214556810	C	T	PTPN14	c.2388G>A	NM_005401.5	NP_005392.2:p.(Pro796=)	NC_000001.10:g.214556810C>T	(Likely) benign	1 lab	e05e6186d8
17:79503292 FSCN2 C>T	17	79503292	79503292	C	T	FSCN2	c.1104C>T	NM_001077182.3	NP_001070650.1:p.(Val368=)	NC_000017.10:g.79503292C>T	(Likely) benign	1 lab	e060327707
7:138536963 KIAA1549 C>T	7	138536963	138536963	C	T	KIAA1549	c.5294+6G>A	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138536963C>T	(Likely) benign	1 lab	e0628a1317
9:107560291 ABCA1 G>A	9	107560291	107560291	G	A	ABCA1	c.5121+411C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107560291G>A	(Likely) benign	1 lab	e063e264d6
X:6657750 PUDP T>Alt too long to show for this DUP	X	6657750	6968192	T	Alt too long to show for this DUP	PUDP				NC_000023.10:g.6657751_6968192dup	VUS	1 lab	e063f5adc0
12:21358884 SLCO1B1 C>T	12	21358884	21358884	C	T	SLCO1B1	c.1414C>T	NM_006446.5	NP_006437.3:p.(Pro472Ser)	NC_000012.11:g.21358884C>T	(Likely) benign	1 lab	e0675c8ae3
2:215657178 BARD1 T>A	2	215657178	215657178	T	A	BARD1	c.216-9A>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657178T>A	(Likely) benign	1 lab	e068ac2f2e
12:2797884 ITFG2-AS1 C>G	12	2797884	2797884	C	G	ITFG2-AS1	n.333+1422G>C	NR_045725.1		NC_000012.11:g.2797884C>G	(Likely) benign	1 lab	e070c845d8
2:189860905 COL3A1 G>C	2	189860905	189860905	G	C	COL3A1	c.1662+1G>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860905G>C	(Likely) pathogenic	1 lab	e078e5e7ab
1:215822044 USH2A A>G	1	215822044	215822044	A	G	USH2A	c.14408T>C	NM_206933.4	NP_996816.3:p.(Ile4803Thr)	NC_000001.10:g.215822044A>G	VUS	1 lab	e07a4678a7
2:21234281 APOB T>G	2	21234281	21234281	T	G	APOB	c.5459A>C	NM_000384.3	NP_000375.3:p.(Lys1820Thr)	NC_000002.11:g.21234281T>G	VUS	1 lab	e07bb148fc
14:23884982 MYH7 G>A	14	23884982	23884982	G	A	MYH7	c.5013C>T	NM_000257.4	NP_000248.2:p.(Ile1671=)	NC_000014.8:g.23884982G>A	(Likely) benign	1 lab	e07f172a39
2:44073656 ABCG8 T>C	2	44073656	44073656	T	C	ABCG8	c.322+206T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073656T>C	(Likely) benign	1 lab	e07f70dff3
8:19816907 LPL G>C	8	19816907	19816907	G	C	LPL	c.1139+16G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816907G>C	(Likely) benign	1 lab	e07ffa5f8e
19:47259262 FKRP C>T	19	47259262	47259262	C	T	FKRP	c.555C>T	NM_001039885.3	NP_001034974.1:p.(Ala185=)	NC_000019.9:g.47259262C>T	(Likely) benign	1 lab	e0811aa777
8:59409499 CYP7A1 T>C	8	59409499	59409499	T	C	CYP7A1	c.572A>G	NM_000780.4	NP_000771.2:p.(Asp191Gly)	NC_000008.10:g.59409499T>C	VUS	1 lab	e0845a482f
15:45400404 DUOX2 G>T	15	45400404	45400404	G	T	DUOX2	c.1415C>A	NM_001363711.2	NP_001350640.1:p.(Ala472Asp)	NC_000015.9:g.45400404G>T	VUS	1 lab	e085a2fa09
4:47938712 CNGA1 T>C	4	47938712	47938712	T	C	CNGA1	c.1787A>G	NM_001142564.2	NP_001136036.2:p.(Lys596Arg)	NC_000004.11:g.47938712T>C	(Likely) benign	1 lab	e08761bd4d
2:162274197 TBR1 C>A	2	162274197	162274197	C	A	TBR1	c.703C>A	NM_006593.4	NP_006584.1:p.(Pro235Thr)	NC_000002.11:g.162274197C>A	(Likely) pathogenic	1 lab	e08e56de21
1:55527042 PCSK9 C>T	1	55527042	55527042	C	T	PCSK9	c.1682-6C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527042C>T	(Likely) benign	1 lab	e094b50cf0
18:47091749 LIPG C>T	18	47091749	47091749	C	T	LIPG	c.160C>T	NM_006033.4	NP_006024.1:p.(Arg54Cys)	NC_000018.9:g.47091749C>T	(Likely) benign	1 lab	e0985405f5
2:179606001 TTN T>C	2	179606001	179606001	T	C	TTN	c.11959A>G	NM_001267550.2	NP_001254479.2:p.(Ile3987Val)	NC_000002.11:g.179606001T>C	(Likely) benign	1 lab	e098bc80e1
16:904871 LMF1 G>A	16	904871	904871	G	A	LMF1	c.1131-165C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.904871G>A	(Likely) benign	1 lab	e0991e1ae9
16:929428 LMF1 C>T	16	929428	929428	C	T	LMF1	c.498+142G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929428C>T	(Likely) benign	1 lab	e09a2a403d
11:116703588 APOC3 C>T	11	116703588	116703588	C	T	APOC3	c.288C>T	NM_000040.3	NP_000031.1:p.(Ala96=)	NC_000011.9:g.116703588C>T	(Likely) benign	1 lab	e09b815779
8:132966061 EFR3A A>T	8	132966061	132966061	A	T	EFR3A	c.489-4A>T	NM_015137.6	NP_055952.2:p.?	NC_000008.10:g.132966061A>T	(Likely) benign	1 lab	e09eac9d19
12:125302553 SCARB1 C>A	12	125302553	125302553	C	A	SCARB1	c.127-300G>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125302553C>A	(Likely) benign	1 lab	e09f487e8e
11:47357922 MYBPC3 C>A	11	47357922	47357922	C	A	MYBPC3	c.2603-360G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357922C>A	(Likely) benign	1 lab	e09f6e551b
2:182468732 CERKL G>A	2	182468732	182468732	G	A	CERKL	c.313C>T	NM_001030311.3	NP_001025482.1:p.(Arg105Trp)	NC_000002.11:g.182468732G>A	(Likely) benign	1 lab	e0a65899c0
16:70852261 HYDIN A>AC	16	70852261	70852263	A	AC	HYDIN	c.14641dup	NM_001270974.2	NP_001257903.1:p.(Val4881GlyfsTer12)	NC_000016.9:g.70852263dup	(Likely) pathogenic	1 lab	e0a8c0d445
6:7585928 DSP G>A	6	7585928	7585928	G	A	DSP	c.8433G>A	NM_004415.4	NP_004406.2:p.(Lys2811=)	NC_000006.11:g.7585928G>A	VUS	1 lab	e0ab65192d
1:55522083 PCSK9 A>C	1	55522083	55522083	A	C	PCSK9	c.996+221A>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522083A>C	(Likely) benign	1 lab	e0ab770d99
12:21329814 SLCO1B1 C>T	12	21329814	21329814	C	T	SLCO1B1	c.464C>T	NM_006446.5	NP_006437.3:p.(Pro155Leu)	NC_000012.11:g.21329814C>T	(Likely) benign	1 lab	e0ad1e0807
2:215610599 BARD1 A>G	2	215610599	215610599	A	G	BARD1	c.1678-21T>C	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215610599A>G	(Likely) benign	1 lab	e0aebebd64
1:180775672 XPR1 C>T	1	180775672	180775672	C	T	XPR1	c.660C>T	NM_004736.4	NP_004727.2:p.(Val220=)	NC_000001.10:g.180775672C>T	(Likely) benign	1 lab	e0b082917d
5:133942688 SAR1B T>C	5	133942688	133942688	T	C	SAR1B	c.549A>G	NM_001033503.3	NP_001028675.1:p.(Arg183=)	NC_000005.9:g.133942688T>C	VUS	1 lab	e0b2376b17
14:105181670 INF2 C>T	14	105181670	105181670	C	T	INF2	c.3744C>T	NM_022489.4	NP_071934.3:p.(Ile1248=)	NC_000014.8:g.105181670C>T	(Likely) benign	1 lab	e0b3666708
2:179516975 TTN C>A	2	179516975	179516975	C	A	TTN	c.39211+16G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516975C>A	(Likely) benign	1 lab	e0b3c0846f
X:149013489 MAGEA8 A>G	X	149013489	149013489	A	G	MAGEA8	c.443A>G	NM_001166400.2	NP_001159872.1:p.(Asn148Ser)	NC_000023.10:g.149013489A>G	(Likely) benign	1 lab	e0b495c80e
X:118604043 SLC25A5 T>C	X	118604043	118604043	T	C	SLC25A5	c.531T>C	NM_001152.5	NP_001143.2:p.(Phe177=)	NC_000023.10:g.118604043T>C	(Likely) benign	1 lab	e0b8a8adee
2:220082430 ABCB6 G>T	2	220082430	220082430	G	T	ABCB6	c.649C>A	NM_005689.4	NP_005680.1:p.(Gln217Lys)	NC_000002.11:g.220082430G>T	(Likely) benign	1 lab	e0b8b77fe0
12:2786403 CACNA1C C>T	12	2786403	2786403	C	T	CACNA1C	c.5100+16C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2786403C>T	(Likely) benign	1 lab	e0ba9c0ddb
8:19812252 LPL G>C	8	19812252	19812252	G	C	LPL	c.775+388G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812252G>C	(Likely) benign	1 lab	e0bb716953
7:128415072 OPN1SW G>A	7	128415072	128415072	G	A	OPN1SW	c.480C>T	NM_001385125.1	NP_001372054.1:p.(Gly160=)	NC_000007.13:g.128415072G>A	(Likely) benign	1 lab	e0d1d96c32
15:89876687 POLG A>ACCGCGGCCTCGCCAGGCATCTCC	15	89876687	89876712	A	ACCGCGGCCTCGCCAGGCATCTCC	POLG	c.276_298dup	NM_002693.3	NP_002684.1:p.(Val100GlyfsTer174)	NC_000015.9:g.89876690_89876712dup	(Likely) pathogenic	1 lab	e0bd7bff36
19:40903146 PRX T>C	19	40903146	40903146	T	C	PRX	c.1113A>G	NM_181882.3	NP_870998.2:p.(Glu371=)	NC_000019.9:g.40903146T>C	(Likely) benign	1 lab	e0bd8f3882
1:55524339 PCSK9 CGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+56_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524376_55524391del	(Likely) benign	1 lab	e0bee7932c
1:110740125 SLC6A17 GTT>G	1	110740125	110740127	GTT	G	SLC6A17	c.1720_1721del	NM_001010898.4	NP_001010898.1:p.(Phe574ArgfsTer72)	NC_000001.10:g.110740126_110740127del	VUS	1 lab	e0c2666abb
2:179469545 TTN CAA>C	2	179469545	179469547	CAA	C	TTN	c.54269_54270del	NM_001267550.2	NP_001254479.2:p.(Leu18090ArgfsTer2)	NC_000002.11:g.179469546_179469547del	(Likely) pathogenic	1 lab	e0c74fbd36
9:113137745 SVEP1 T>TA	9	113137745	113137770	T	TA	SVEP1	c.10505-3dup	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113137770dup	(Likely) benign	1 lab	e0cb637a23
18:47095815 LIPG C>T	18	47095815	47095815	C	T	LIPG	c.468C>T	NM_006033.4	NP_006024.1:p.(Asp156=)	NC_000018.9:g.47095815C>T	(Likely) benign	1 lab	e0cc4f1d51
5:130500842 HINT1 A>G	5	130500842	130500842	A	G	HINT1	c.57T>C	NM_005340.7	NP_005331.1:p.(Phe19=)	NC_000005.9:g.130500842A>G	(Likely) benign	1 lab	e0cca9a591
2:21234140 APOB C>T	2	21234140	21234140	C	T	APOB	c.5600G>A	NM_000384.3	NP_000375.3:p.(Arg1867Gln)	NC_000002.11:g.21234140C>T	VUS	1 lab	e0cfd16b77
17:48273703 COL1A1 C>T	17	48273703	48273703	C	T	COL1A1	c.929G>A	NM_000088.4	NP_000079.2:p.(Arg310Lys)	NC_000017.10:g.48273703C>T	VUS	1 lab	e0d4544609
15:65312614 MTFMT CAA>C	15	65312614	65312628	CAA	C	MTFMT	c.646-6_646-5del	NM_139242.4	NP_640335.2:p.?	NC_000015.9:g.65312627_65312628del	(Likely) benign	1 lab	e0d57982f5
12:32772695 FGD4 C>A	12	32772695	32772695	C	A	FGD4	c.370C>A	NM_001304484.2	NP_001291413.1:p.(Arg124=)	NC_000012.11:g.32772695C>A	(Likely) benign	1 lab	e0d591b2ed
2:179639837 TTN G>A	2	179639837	179639837	G	A	TTN	c.6601C>T	NM_001267550.2	NP_001254479.2:p.(Pro2201Ser)	NC_000002.11:g.179639837G>A	VUS	1 lab	e0d5ac7af7
1:161277096 MPZ G>C	1	161277096	161277096	G	C	MPZ	c.186C>G	NM_000530.8	NP_000521.2:p.(Ile62Met)	NC_000001.10:g.161277096G>C	(Likely) pathogenic	1 lab	e0d75c5c14
7:33136113 RP9 C>T	7	33136113	33136113	C	T	RP9	c.459G>A	NM_203288.2	NP_976033.1:p.(Lys153=)	NC_000007.13:g.33136113C>T	(Likely) benign	1 lab	e0d91a8bd6
16:9035383 MISSING Ref too long to show for this DEL>C	16	9035383	9109391	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.9035384_9109391del	(Likely) pathogenic	1 lab	e0d93fe22d
12:6925313 CD4 G>T	12	6925313	6925313	G	T	CD4	c.699G>T	NM_000616.5	NP_000607.1:p.(Thr233=)	NC_000012.11:g.6925313G>T	(Likely) benign	1 lab	e0d984a0ac
9:107589630 ABCA1 C>T	9	107589630	107589630	C	T	ABCA1	c.2116-180G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589630C>T	(Likely) benign	1 lab	e0daf12974
4:8869570 HMX1 G>C	4	8869570	8869570	G	C	HMX1	c.896C>G	NM_018942.3	NP_061815.2:p.(Pro299Arg)	NC_000004.11:g.8869570G>C	(Likely) benign	1 lab	e0dc7d44b1
2:15618404 NBAS C>G	2	15618404	15618404	C	G	NBAS	c.1093G>C	NM_015909.4	NP_056993.2:p.(Asp365His)	NC_000002.11:g.15618404C>G	(Likely) benign	1 lab	e0e33f1400
X:154948100 MISSING A>Alt too long to show for this DUP	X	154948100	155234895	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154948101_155234895dup	(Likely) pathogenic	1 lab	e0e60609b4
18:45395181 SMAD2 A>G	18	45395181	45395181	A	G	SMAD2	c.521-353T>C	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45395181A>G	(Likely) benign	1 lab	e0e682d556
12:32993963 PKP2 T>G	12	32993963	32993963	T	G	PKP2	c.1687A>C	NM_004572.4	NP_004563.2:p.(Arg563=)	NC_000012.11:g.32993963T>G	VUS	1 lab	e0eac9f74d
1:68260900 MISSING Ref too long to show for this DEL>C	1	68260900	68387531	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.68260901_68387531del	VUS	1 lab	e0eb39ae8d
6:7580421 DSP AGTTT>A	6	7580421	7580425	AGTTT	A	DSP	c.3999_4002del	NM_004415.4	NP_004406.2:p.(Glu1333AspfsTer15)	NC_000006.11:g.7580422_7580425del	(Likely) pathogenic	1 lab	e0ed4d524c
18:29172840 TTR G>C	18	29172840	29172840	G	C	TTR	c.70-19G>C	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29172840G>C	(Likely) benign	1 lab	e0ed601806
2:44052175 ABCG5 G>C	2	44052175	44052175	G	C	ABCG5	c.775-18C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052175G>C	VUS	1 lab	e0ee555f87
2:179391817 TTN AC>A	2	179391817	179391819	AC	A	TTN	c.107897del	NM_001267550.2	NP_001254479.2:p.(Gly35966ValfsTer6)	NC_000002.11:g.179391819del	VUS	1 lab	e0f0617ad6
3:130947272 NEK11 A>Alt too long to show for this DUP	3	130947272	130992577	A	Alt too long to show for this DUP	NEK11	c.1400-99_1718+159dup	NM_024800.5	NP_079076.3:p.?	NC_000003.11:g.130947273_130992577dup	VUS	1 lab	e0f1ac8c04
2:179596645 TTN C>T	2	179596645	179596645	C	T	TTN	c.16957G>A	NM_001267550.2	NP_001254479.2:p.(Asp5653Asn)	NC_000002.11:g.179596645C>T	VUS	1 lab	e0f2669d0a
X:122318493 GRIA3 A>G	X	122318493	122318493	A	G	GRIA3	c.106A>G	NM_000828.5	NP_000819.4:p.(Ile36Val)	NC_000023.10:g.122318493A>G	VUS	1 lab	e0f6164c41
3:53774383 CACNA1D G>C	3	53774383	53774383	G	C	CACNA1D	c.2811+17G>C	NM_001128840.3	NP_001122312.1:p.?	NC_000003.11:g.53774383G>C	(Likely) benign	1 lab	e0f928baa5
2:50986893 MISSING Ref too long to show for this DEL>G	2	50986893	51438822	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.50986897_51438822del	(Likely) pathogenic	1 lab	e0fa38b5cd
15:48704837 FBN1 T>C	15	48704837	48704837	T	C	FBN1	c.8155A>G	NM_000138.5	NP_000129.3:p.(Lys2719Glu)	NC_000015.9:g.48704837T>C	VUS	1 lab	e0faaf8a5b
5:138266299 CTNNA1 C>G	5	138266299	138266299	C	G	CTNNA1	c.2148C>G	NM_001903.5	NP_001894.2:p.(Ala716=)	NC_000005.9:g.138266299C>G	(Likely) benign	1 lab	e0fc0eaf29
X:38460756 MISSING Ref too long to show for this DEL>A	X	38460756	39217349	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.38460759_39217349del	(Likely) pathogenic	1 lab	e0fd6f498f
X:54496585 FGD1 ACAGGCACACTAGCCAGGGCAGGGGGC>A	X	54496585	54496612	ACAGGCACACTAGCCAGGGCAGGGGGC	A	FGD1	c.939_964del	NM_004463.3	NP_004454.2:p.(Pro314CysfsTer14)	NC_000023.10:g.54496587_54496612del	(Likely) pathogenic	1 lab	e0ffcd3a31
17:72918993 USH1G G>T	17	72918993	72918993	G	T	USH1G	c.164+12C>A	NM_173477.5	NP_775748.2:p.?	NC_000017.10:g.72918993G>T	(Likely) benign	1 lab	e101c68ca0
9:133352335 ASS1 C>T	9	133352335	133352335	C	T	ASS1	c.675C>T	NM_000050.4	NP_000041.2:p.(Ile225=)	NC_000009.11:g.133352335C>T	(Likely) benign	1 lab	e1025a65aa
2:44065113 ABCG5 G>A	2	44065113	44065113	G	A	ABCG5	c.144-19C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44065113G>A	(Likely) benign	1 lab	e104819ce1
2:179486283 TTN G>A	2	179486283	179486283	G	A	TTN	c.45268C>T	NM_001267550.2	NP_001254479.2:p.(Gln15090Ter)	NC_000002.11:g.179486283G>A	(Likely) pathogenic	1 lab	e1060a03e1
17:60042536 MED13 G>C	17	60042536	60042536	G	C	MED13	c.4675C>G	NM_005121.3	NP_005112.2:p.(Pro1559Ala)	NC_000017.10:g.60042536G>C	VUS	1 lab	e109b8d4c5
18:28660106 DSC2 T>A	18	28660106	28660106	T	A	DSC2	c.1476A>T	NM_004949.5	NP_004940.1:p.(Gly492=)	NC_000018.9:g.28660106T>A	(Likely) benign	1 lab	e10eec9bae
9:107578489 ABCA1 T>G	9	107578489	107578489	T	G	ABCA1	c.3673A>C	NM_005502.4	NP_005493.2:p.(Ile1225Leu)	NC_000009.11:g.107578489T>G	VUS	1 lab	e11a53ee36
3:53837496 CACNA1D C>G	3	53837496	53837496	C	G	CACNA1D	c.5542C>G	NM_000720.4	NP_000711.1:p.(Pro1848Ala)	NC_000003.11:g.53837496C>G	VUS	1 lab	e11e0f398f
19:590367 HCN2 C>T	19	590367	590367	C	T	HCN2	c.422C>T	NM_001194.4	NP_001185.3:p.(Ala141Val)	NC_000019.9:g.590367C>T	(Likely) benign	1 lab	e129faf45f
11:68131257 LRP5 G>C	11	68131257	68131257	G	C	LRP5	c.729G>C	NM_002335.4	NP_002326.2:p.(Leu243=)	NC_000011.9:g.68131257G>C	(Likely) benign	1 lab	e12a7aaaa2
2:179456842 TTN G>A	2	179456842	179456842	G	A	TTN	c.59789C>T	NM_001267550.2	NP_001254479.2:p.(Thr19930Ile)	NC_000002.11:g.179456842G>A	VUS	1 lab	e12bd26e26
16:15829407 MYH11 T>C	16	15829407	15829407	T	C	MYH11	c.3322A>G	NM_002474.3	NP_002465.1:p.(Asn1108Asp)	NC_000016.9:g.15829407T>C	VUS	1 lab	e12eaf0bc0
3:52442562 BAP1 CT>C	3	52442562	52442565	CT	C	BAP1	c.182del	NM_004656.4	NP_004647.1:p.(Lys61ArgfsTer11)	NC_000003.11:g.52442565del	(Likely) pathogenic	1 lab	e1328bf544
5:89933548 ADGRV1 A>C	5	89933548	89933548	A	C	ADGRV1	c.2023A>C	NM_032119.4	NP_115495.3:p.(Ile675Leu)	NC_000005.9:g.89933548A>C	(Likely) benign	1 lab	e132d18499
1:94564543 ABCA4 G>A	1	94564543	94564543	G	A	ABCA4	c.575C>T	NM_000350.3	NP_000341.2:p.(Ala192Val)	NC_000001.10:g.94564543G>A	VUS	1 lab	e136febbc4
19:11231218 LDLR T>G	19	11231218	11231218	T	G	LDLR	c.2140+20T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231218T>G	(Likely) benign	1 lab	e1381f4c9e
19:11222171 LDLR C>T	19	11222171	11222171	C	T	LDLR	c.1061-19C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222171C>T	VUS	1 lab	e13a1a99e1
3:38644930 SCN5A A>C	3	38644930	38644930	A	C	SCN5A	c.1890+273T>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38644930A>C	(Likely) benign	1 lab	e13bc44e00
16:9857922 GRIN2A T>C	16	9857922	9857922	T	C	GRIN2A	c.3479A>G	NM_000833.5	NP_000824.1:p.(Lys1160Arg)	NC_000016.9:g.9857922T>C	VUS	1 lab	e13ff4894c
12:48373864 COL2A1 G>A	12	48373864	48373864	G	A	COL2A1	c.2626-19C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48373864G>A	(Likely) benign	1 lab	e1419fcd4a
10:75877871 VCL C>T	10	75877871	75877871	C	T	VCL	c.3145C>T	NM_003373.4	NP_003364.1:p.(Arg1049Ter)	NC_000010.10:g.75877871C>T	VUS	1 lab	e14274144d
12:129810306 MISSING G>Alt too long to show for this DUP	12	129810306	130484711	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.129810307_130484711dup	VUS	1 lab	e1453dc3f0
11:95582984 MTMR2 G>A	11	95582984	95582984	G	A	MTMR2	c.631C>T	NM_001243571.2	NP_001230500.1:p.(Arg211Trp)	NC_000011.9:g.95582984G>A	(Likely) pathogenic	1 lab	e146cfbc8d
X:117925772 IL13RA1 C>T	X	117925772	117925772	C	T	IL13RA1	c.1239C>T	NM_001560.3	NP_001551.1:p.(Thr413=)	NC_000023.10:g.117925772C>T	(Likely) benign	1 lab	e148b92af9
4:114282034 ANK2 C>T	4	114282034	114282034	C	T	ANK2	c.10737C>T	NM_001148.6	NP_001139.3:p.(His3579=)	NC_000004.11:g.114282034C>T	(Likely) benign	1 lab	e14bbe9ec9
19:54990116 MISSING C>Alt too long to show for this DUP	19	54990116	55099324	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.54990119_55099324dup	VUS	1 lab	e14c17c182
3:167507179 SERPINI1 A>G	3	167507179	167507179	A	G	SERPINI1	c.250+13A>G	NM_005025.5	NP_005016.1:p.?	NC_000003.11:g.167507179A>G	(Likely) benign	1 lab	e14d20fac2
1:156084954 LMNA A>C	1	156084954	156084954	A	C	LMNA	c.245A>C	NM_170707.4	NP_733821.1:p.(Glu82Ala)	NC_000001.10:g.156084954A>C	(Likely) pathogenic	1 lab	e14ecb7e9c
2:179460213 TTN C>CTT	2	179460213	179460214	C	CTT	TTN	c.57847+20_57847+21insAA	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460213_179460214insTT	(Likely) benign	1 lab	e150b51c46
4:154215582 TRIM2 T>C	4	154215582	154215582	T	C	TRIM2	c.650T>C	NM_001351056.2	NP_001337985.1:p.(Val217Ala)	NC_000004.11:g.154215582T>C	VUS	1 lab	e152027674
14:23894983 MYH7 A>G	14	23894983	23894983	A	G	MYH7	c.2207T>C	NM_000257.4	NP_000248.2:p.(Ile736Thr)	NC_000014.8:g.23894983A>G	(Likely) pathogenic	1 lab	e159735491
8:19822459 LPL T>TC	8	19822459	19822460	T	TC	LPL	c.1428-361dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822460dup	(Likely) benign	1 lab	e15bc5d9c3
2:179598097 TTN C>T	2	179598097	179598097	C	T	TTN	c.15923G>A	NM_001267550.2	NP_001254479.2:p.(Arg5308Gln)	NC_000002.11:g.179598097C>T	VUS	1 lab	e15f7d2a3f
9:137716467 COL5A1 C>T	9	137716467	137716467	C	T	COL5A1	c.4720C>T	NM_000093.5	NP_000084.3:p.(Gln1574Ter)	NC_000009.11:g.137716467C>T	(Likely) pathogenic	1 lab	e161c2bd41
19:11227528 LDLR T>C	19	11227528	11227528	T	C	LDLR	c.1706-7T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227528T>C	(Likely) benign	1 lab	e1622c6692
18:6959444 LAMA1 G>C	18	6959444	6959444	G	C	LAMA1	c.7674C>G	NM_005559.4	NP_005550.2:p.(Val2558=)	NC_000018.9:g.6959444G>C	(Likely) benign	1 lab	e1622e4a41
9:107556672 ABCA1 C>A	9	107556672	107556672	C	A	ABCA1	c.5502G>T	NM_005502.4	NP_005493.2:p.(Arg1834Ser)	NC_000009.11:g.107556672C>A	VUS	1 lab	e1638ecf81
19:50779375 MYH14 C>T	19	50779375	50779375	C	T	MYH14	c.3595C>T	NM_001145809.2	NP_001139281.1:p.(Arg1199Cys)	NC_000019.9:g.50779375C>T	VUS	1 lab	e165776cc2
1:33245771 YARS1 C>T	1	33245771	33245771	C	T	YARS1	c.1249G>A	NM_003680.4	NP_003671.1:p.(Asp417Asn)	NC_000001.10:g.33245771C>T	VUS	1 lab	e16888b9ca
4:3076603 HTT CCAG>C	4	3076603	3076662	CCAG	C	HTT	c.108_116del	NM_002111.8	NP_002102.4:p.(Gln38_Gln40del)	NC_000004.11:g.3076660_3076662del	(Likely) benign	1 lab	e168eecd14
15:44914417 SPG11 C>G	15	44914417	44914417	C	G	SPG11	c.2444+1G>C	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44914417C>G	(Likely) pathogenic	1 lab	e16cdcada8
9:107583748 ABCA1 G>A	9	107583748	107583748	G	A	ABCA1	c.2868C>T	NM_005502.4	NP_005493.2:p.(Thr956=)	NC_000009.11:g.107583748G>A	(Likely) benign	1 lab	e16d088dab
X:32503146 DMD T>C	X	32503146	32503146	T	C	DMD	c.2324A>G	NM_004010.3	NP_004001.1:p.(Lys775Arg)	NC_000023.10:g.32503146T>C	VUS	1 lab	e16df81739
12:102071076 MYBPC1 G>A	12	102071076	102071076	G	A	MYBPC1	c.3013G>A	NM_002465.4	NP_002456.2:p.(Gly1005Arg)	NC_000012.11:g.102071076G>A	VUS	1 lab	e170427432
1:3319488 PRDM16 C>T	1	3319488	3319488	C	T	PRDM16	c.810C>T	NM_022114.4	NP_071397.3:p.(Pro270=)	NC_000001.10:g.3319488C>T	(Likely) benign	1 lab	e171bfaa0a
3:193380595 OPA1 T>A	3	193380595	193380595	T	A	OPA1	c.2521-16T>A	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193380595T>A	(Likely) benign	1 lab	e17461458d
11:121367557 SORL1 C>CT	11	121367557	121367570	C	CT	SORL1	c.759-8dup	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121367570dup	(Likely) benign	1 lab	e17963ced7
1:8526071 RERE C>T	1	8526071	8526071	C	T	RERE	c.1117G>A	NM_012102.4	NP_036234.3:p.(Gly373Ser)	NC_000001.10:g.8526071C>T	(Likely) benign	1 lab	e17981e56e
2:179462550 TTN G>A	2	179462550	179462550	G	A	TTN	c.57263-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179462550G>A	(Likely) benign	1 lab	e17d73d6bd
12:64891421 TBK1 G>T	12	64891421	64891421	G	T	TBK1	c.1960-7G>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64891421G>T	(Likely) benign	1 lab	e18037860c
1:237944847 RYR2 C>T	1	237944847	237944847	C	T	RYR2	c.11881-18C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237944847C>T	(Likely) benign	1 lab	e1817228e5
2:27303034 EMILIN1 C>T	2	27303034	27303034	C	T	EMILIN1	c.186C>T	NM_007046.4	NP_008977.1:p.(Tyr62=)	NC_000002.11:g.27303034C>T	(Likely) benign	1 lab	e18178800b
10:91005713 LIPA G>C	10	91005713	91005713	G	C	LIPA	c.112-163C>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005713G>C	(Likely) benign	1 lab	e186876c56
21:47552522 COL6A2 T>G	21	47552522	47552522	T	G	COL6A2	c.*56T>G	NM_001849.4	NP_001840.3:p.?	NC_000021.8:g.47552522T>G	(Likely) benign	1 lab	e187750a8b
14:23852512 MYH6 C>A	14	23852512	23852512	C	A	MYH6	c.5583G>T	NM_002471.4	NP_002462.2:p.(Lys1861Asn)	NC_000014.8:g.23852512C>A	VUS	1 lab	e188d21fe5
6:7559655 DSP CCA>C	6	7559655	7559657	CCA	C	DSP	c.597+23_597+24del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559656_7559657del	(Likely) benign	1 lab	e188d95462
5:89940694 ADGRV1 T>C	5	89940694	89940694	T	C	ADGRV1	c.2898+8T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89940694T>C	(Likely) benign	1 lab	e189659b43
7:150645514 KCNH2 T>C	7	150645514	150645514	T	C	KCNH2	c.2692+18A>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150645514T>C	(Likely) benign	1 lab	e19258ede8
2:179414390 TTN C>T	2	179414390	179414390	C	T	TTN	c.92059G>A	NM_001267550.2	NP_001254479.2:p.(Gly30687Ser)	NC_000002.11:g.179414390C>T	VUS	1 lab	e19314ce2c
1:103343671 COL11A1 A>G	1	103343671	103343671	A	G	COL11A1	c.5361T>C	NM_080629.3	NP_542196.2:p.(Ile1787=)	NC_000001.10:g.103343671A>G	(Likely) benign	1 lab	e19703921a
2:179603894 TTN G>A	2	179603894	179603894	G	A	TTN	c.14066C>T	NM_001267550.2	NP_001254479.2:p.(Ser4689Leu)	NC_000002.11:g.179603894G>A	VUS	1 lab	e197a338c4
19:45451734 APOC2 C>T	19	45451734	45451734	C	T	APOC2	c.-2C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451734C>T	(Likely) benign	1 lab	e1987de4d8
2:36580233 MISSING Ref too long to show for this DEL>C	2	36580233	36640463	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.36580236_36640463del	VUS	1 lab	e198b7ce3d
19:55367165 KIR3DL2 C>A	19	55367165	55367165	C	A	KIR3DL2	c.747C>A	NM_006737.4	NP_006728.2:p.(Ser249=)	NC_000019.9:g.55367165C>A	(Likely) benign	1 lab	e199775eae
20:10624386 JAG1 G>A	20	10624386	10624386	G	A	JAG1	c.2458+40C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10624386G>A	(Likely) benign	1 lab	e19d0ce864
7:150642438 KCNH2 C>T	7	150642438	150642438	C	T	KCNH2	c.*15G>A	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150642438C>T	(Likely) benign	1 lab	e1a1931ed4
11:68704265 IGHMBP2 G>A	11	68704265	68704265	G	A	IGHMBP2	c.2317G>A	NM_002180.3	NP_002171.2:p.(Gly773Arg)	NC_000011.9:g.68704265G>A	VUS	1 lab	e1a1ada8c7
19:12768297 MAN2B1 T>G	19	12768297	12768297	T	G	MAN2B1	c.1382A>C	NM_000528.4	NP_000519.2:p.(Tyr461Ser)	NC_000019.9:g.12768297T>G	VUS	1 lab	e1a39af35e
16:88799864 PIEZO1 T>TGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGG	16	88799864	88799932	T	TGAGGGCAGTGGGCACGTGGGGCTGGGCTTGGG	PIEZO1	c.2488-34_2488-3dup	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88799901_88799932dup	(Likely) benign	1 lab	e1a5f7d233
20:23016750 SSTR4 C>A	20	23016750	23016750	C	A	SSTR4	c.630C>A	NM_001052.4	NP_001043.2:p.(Val210=)	NC_000020.10:g.23016750C>A	(Likely) benign	1 lab	e1a7eebab7
3:14208647 XPC C>T	3	14208647	14208647	C	T	XPC	c.621+22G>A	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14208647C>T	(Likely) benign	1 lab	e1a97446d4
17:39921037 JUP G>A	17	39921037	39921037	G	A	JUP	c.1086C>T	NM_002230.4	NP_002221.1:p.(Thr362=)	NC_000017.10:g.39921037G>A	(Likely) benign	1 lab	e1aab0b564
X:147733566 AFF2 C>T	X	147733566	147733566	C	T	AFF2	c.94C>T	NM_002025.4	NP_002016.2:p.(Arg32Trp)	NC_000023.10:g.147733566C>T	(Likely) benign	1 lab	e1ac1b5f9d
10:75854058 VCL CCTTG>C	10	75854058	75854062	CCTTG	C	VCL	c.1383_1386del	NM_014000.3	NP_054706.1:p.(Leu462ProfsTer71)	NC_000010.10:g.75854059_75854062del	(Likely) benign	1 lab	e1acf4534b
19:50100197 PRR12 C>T	19	50100197	50100197	C	T	PRR12	c.2605C>T	NM_020719.3	NP_065770.1:p.(Arg869Ter)	NC_000019.9:g.50100197C>T	(Likely) pathogenic	1 lab	e1ae74d3d9
2:44102513 ABCG8 G>A	2	44102513	44102513	G	A	ABCG8	c.1717G>A	NM_022437.3	NP_071882.1:p.(Ala573Thr)	NC_000002.11:g.44102513G>A	VUS	1 lab	e1ae84a102
17:75489282 SEPTIN9 C>CA	17	75489282	75489283	C	CA	SEPTIN9	c.1519+125dup	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489283dup	(Likely) benign	1 lab	e1b3bc8058
5:7889304 MTRR C>T	5	7889304	7889304	C	T	MTRR	c.1243C>T	NM_002454.3	NP_002445.2:p.(Arg415Cys)	NC_000005.9:g.7889304C>T	(Likely) benign	1 lab	e1b65ceb47
5:70308643 NAIP A>G	5	70308643	70308643	A	G	NAIP	c.100T>C	NM_004536.3	NP_004527.2:p.(Leu34=)	NC_000005.9:g.70308643A>G	(Likely) benign	1 lab	e1b660e066
8:144992361 PLEC T>C	8	144992361	144992361	T	C	PLEC	c.12039A>G	NM_201380.4	NP_958782.1:p.(Pro4013=)	NC_000008.10:g.144992361T>C	(Likely) benign	1 lab	e1bc11d510
15:63335991 TPM1 G>C	15	63335991	63335991	G	C	TPM1	c.201G>C	NM_001365778.1	NP_001352707.1:p.(Ala67=)	NC_000015.9:g.63335991G>C	(Likely) benign	1 lab	e1bf9e0475
1:161276638 MPZ C>T	1	161276638	161276638	C	T	MPZ	c.308G>A	NM_000530.8	NP_000521.2:p.(Gly103Glu)	NC_000001.10:g.161276638C>T	(Likely) pathogenic	1 lab	e1c0cea0fc
12:133241878 POLE G>A	12	133241878	133241878	G	A	POLE	c.2468+10C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133241878G>A	(Likely) benign	1 lab	e1c284ba5b
20:57485464 GNAS G>C	20	57485464	57485464	G	C	GNAS	c.*899+8G>C	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57485464G>C	(Likely) benign	1 lab	e1c2dbb4ed
11:116662518 APOA5 G>A	11	116662518	116662518	G	A	APOA5	c.49+10C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662518G>A	VUS	1 lab	e1c315f4fd
2:179582805 TTN A>T	2	179582805	179582805	A	T	TTN	c.21196T>A	NM_133378.4	NP_596869.4:p.(Tyr7066Asn)	NC_000002.11:g.179582805A>T	VUS	1 lab	e1c59f4651
8:144295792 GPIHBP1 G>A	8	144295792	144295792	G	A	GPIHBP1	c.148G>A	NM_178172.6	NP_835466.2:p.(Glu50Lys)	NC_000008.10:g.144295792G>A	(Likely) benign	1 lab	e1c7080137
17:33430262 RAD51D T>C	17	33430262	33430262	T	C	RAD51D	c.738+11A>G	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33430262T>C	(Likely) benign	1 lab	e1c7bb536a
6:7580775 DSP T>C	6	7580775	7580775	T	C	DSP	c.4352T>C	NM_004415.4	NP_004406.2:p.(Leu1451Pro)	NC_000006.11:g.7580775T>C	VUS	1 lab	e1df4d8c29
10:3813130 MISSING Ref too long to show for this DEL>C	10	3813130	3830427	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.3813131_3830427del	VUS	1 lab	e1c87cde32
8:10480375 RP1L1 G>A	8	10480375	10480375	G	A	RP1L1	c.337C>T	NM_178857.6	NP_849188.4:p.(Pro113Ser)	NC_000008.10:g.10480375G>A	(Likely) benign	1 lab	e1c9744397
10:75757969 VCL C>G	10	75757969	75757969	C	G	VCL	c.4C>G	NM_003373.4	NP_003364.1:p.(Pro2Ala)	NC_000010.10:g.75757969C>G	VUS	1 lab	e1c9b81a40
2:21228402 APOB C>A	2	21228402	21228402	C	A	APOB	c.11338G>T	NM_000384.3	NP_000375.3:p.(Ala3780Ser)	NC_000002.11:g.21228402C>A	VUS	1 lab	e1ca4cc896
1:11080476 TARDBP A>C	1	11080476	11080476	A	C	TARDBP	c.544-10A>C	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11080476A>C	(Likely) benign	1 lab	e1ca6c4dbd
12:108910806 FICD G>A	12	108910806	108910806	G	A	FICD	c.57G>A	NM_007076.3	NP_009007.2:p.(Ser19=)	NC_000012.11:g.108910806G>A	(Likely) benign	1 lab	e1ccce4004
7:128492764 FLNC G>A	7	128492764	128492764	G	A	FLNC	c.5962G>A	NM_001458.5	NP_001449.3:p.(Glu1988Lys)	NC_000007.13:g.128492764G>A	VUS	1 lab	e1ceac2018
1:55529029 PCSK9 C>T	1	55529029	55529029	C	T	PCSK9	c.1864-13C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55529029C>T	(Likely) benign	1 lab	e1d17aa57a
4:128842922 MFSD8 C>G	4	128842922	128842922	C	G	MFSD8	c.1107G>C	NM_152778.3	NP_689991.1:p.(Leu369Phe)	NC_000004.11:g.128842922C>G	VUS	1 lab	e1d3848679
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-27_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844570_100844594dup	(Likely) benign	1 lab	e1d63a2883
19:11217361 LDLR A>C	19	11217361	11217361	A	C	LDLR	c.815A>C	NM_000527.5	NP_000518.1:p.(Asn272Thr)	NC_000019.9:g.11217361A>C	VUS	1 lab	e1d7974758
2:48032020 MSH6 TAA>T	2	48032020	48032024	TAA	T	MSH6	c.3439-26_3439-25del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032023_48032024del	(Likely) benign	1 lab	e1d7f353ce
15:85383226 ALPK3 C>T	15	85383226	85383226	C	T	ALPK3	c.716C>T	NM_020778.5	NP_065829.4:p.(Thr239Ile)	NC_000015.9:g.85383226C>T	VUS	1 lab	e1d882842d
11:47357890 MYBPC3 T>C	11	47357890	47357890	T	C	MYBPC3	c.2603-328A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357890T>C	(Likely) benign	1 lab	e1da1e46cc
16:67973957 LCAT C>T	16	67973957	67973957	C	T	LCAT	c.1173G>A	NM_000229.2	NP_000220.1:p.(Val391=)	NC_000016.9:g.67973957C>T	(Likely) benign	1 lab	e1db870b6c
5:179252191 SQSTM1 T>C	5	179252191	179252191	T	C	SQSTM1	c.719T>C	NM_003900.5	NP_003891.1:p.(Val240Ala)	NC_000005.9:g.179252191T>C	VUS	1 lab	e1dbad47ad
1:33276424 YARS1 G>A	1	33276424	33276424	G	A	YARS1	c.205-57C>T	NM_003680.4	NP_003671.1:p.?	NC_000001.10:g.33276424G>A	(Likely) benign	1 lab	e1dbed4d1b
2:21228948 APOB C>T	2	21228948	21228948	C	T	APOB	c.10792G>A	NM_000384.3	NP_000375.3:p.(Ala3598Thr)	NC_000002.11:g.21228948C>T	VUS	1 lab	e1dcae0d18
16:66957767 RRAD G>A	16	66957767	66957767	G	A	RRAD	c.426C>T	NM_001128850.2	NP_001122322.1:p.(Val142=)	NC_000016.9:g.66957767G>A	(Likely) benign	1 lab	e1dd925a39
15:45386804 DUOX2 G>C	15	45386804	45386804	G	C	DUOX2	c.4481C>G	NM_014080.5	NP_054799.4:p.(Pro1494Arg)	NC_000015.9:g.45386804G>C	VUS	1 lab	e1e8e72863
3:69112658 UBA3 CAA>C	3	69112658	69112672	CAA	C	UBA3	c.473-6_473-5del	NM_003968.4	NP_003959.3:p.?	NC_000003.11:g.69112671_69112672del	(Likely) benign	1 lab	e1e982acc3
6:27858120 MISSING A>Alt too long to show for this DUP	6	27858120	27861244	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.27858123_27861244dup	VUS	1 lab	e1e994069a
6:157469898 ARID1B C>T	6	157469898	157469898	C	T	ARID1B	c.2941C>T	NM_001371656.1	NP_001358585.1:p.(Arg981Ter)	NC_000006.11:g.157469898C>T	(Likely) pathogenic	1 lab	e1ea3b9852
3:195974376 PCYT1A C>T	3	195974376	195974376	C	T	PCYT1A	c.348G>A	NM_005017.4	NP_005008.2:p.(Glu116=)	NC_000003.11:g.195974376C>T	(Likely) benign	1 lab	e1ea4c636f
12:21355467 SLCO1B1 G>A	12	21355467	21355467	G	A	SLCO1B1	c.1178G>A	NM_006446.5	NP_006437.3:p.(Gly393Glu)	NC_000012.11:g.21355467G>A	(Likely) benign	1 lab	e1ead5905c
22:42607622 TCF20 GGATGA>G	22	42607622	42607627	GGATGA	G	TCF20	c.3685_3689del	NM_005650.4	NP_005641.1:p.(Ser1229GlnfsTer4)	NC_000022.10:g.42607623_42607627del	(Likely) pathogenic	1 lab	e1ec7a9eea
20:33593482 TRPC4AP C>T	20	33593482	33593482	C	T	TRPC4AP	c.1936+16G>A	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33593482C>T	(Likely) benign	1 lab	e1efef1b04
11:47362034 MYBPC3 T>C	11	47362034	47362034	T	C	MYBPC3	c.1927+520A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362034T>C	(Likely) benign	1 lab	e1f24e41cf
10:68040336 CTNNA3 G>A	10	68040336	68040336	G	A	CTNNA3	c.1776C>T	NM_013266.4	NP_037398.2:p.(Ala592=)	NC_000010.10:g.68040336G>A	(Likely) benign	1 lab	e1f28d839e
2:10141190 MISSING Ref too long to show for this DEL>A	2	10141190	10164859	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.10141191_10164859del	VUS	1 lab	e1f96f52c3
18:47088690 LIPG C>A	18	47088690	47088690	C	A	LIPG	c.12C>A	NM_006033.4	NP_006024.1:p.(Ser4=)	NC_000018.9:g.47088690C>A	(Likely) benign	1 lab	e1fab46b0f
1:55527217 PCSK9 C>T	1	55527217	55527217	C	T	PCSK9	c.1851C>T	NM_174936.4	NP_777596.2:p.(Ala617=)	NC_000001.10:g.55527217C>T	(Likely) benign	1 lab	e1fc48dee7
11:117222685 CEP164 A>AC	11	117222685	117222692	A	AC	CEP164	c.381dup	NM_014956.5	NP_055771.4:p.(Lys128GlnfsTer77)	NC_000011.9:g.117222692dup	(Likely) pathogenic	1 lab	e1fc4b812e
15:78282902 MISSING C>Alt too long to show for this DUP	15	78282902	78327668	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.78282903_78327668dup	VUS	1 lab	e1feed74a9
15:48726791 FBN1 C>T	15	48726791	48726791	C	T	FBN1	c.6616G>A	NM_000138.5	NP_000129.3:p.(Asp2206Asn)	NC_000015.9:g.48726791C>T	(Likely) pathogenic	1 lab	e2004aaac5
8:87641244 CNGB3 G>A	8	87641244	87641244	G	A	CNGB3	c.1383C>T	NM_019098.5	NP_061971.3:p.(Asp461=)	NC_000008.10:g.87641244G>A	(Likely) benign	1 lab	e201375745
5:149301213 PDE6A C>T	5	149301213	149301213	C	T	PDE6A	c.918G>A	NM_000440.3	NP_000431.2:p.(Arg306=)	NC_000005.9:g.149301213C>T	(Likely) benign	1 lab	e2014718d7
16:1004606 LMF1 A>C	16	1004606	1004606	A	C	LMF1	c.254T>G	NM_022773.4	NP_073610.2:p.(Leu85Arg)	NC_000016.9:g.1004606A>C	VUS	1 lab	e2034ae675
16:67976559 LCAT C>T	16	67976559	67976559	C	T	LCAT	c.523+15G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976559C>T	(Likely) benign	1 lab	e205008120
2:27680838 IFT172 T>C	2	27680838	27680838	T	C	IFT172	c.2981A>G	NM_015662.3	NP_056477.1:p.(Tyr994Cys)	NC_000002.11:g.27680838T>C	VUS	1 lab	e2063ac2b1
11:108124640 ATM G>A	11	108124640	108124640	G	A	ATM	c.1998G>A	NM_000051.4	NP_000042.3:p.(Val666=)	NC_000011.9:g.108124640G>A	(Likely) benign	1 lab	e20afd50cf
2:179631105 TTN T>C	2	179631105	179631105	T	C	TTN	c.9703+3A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179631105T>C	VUS	1 lab	e20c2ac609
18:34340600 FHOD3 G>A	18	34340600	34340600	G	A	FHOD3	c.4479G>A	NM_001281740.3	NP_001268669.1:p.(Ala1493=)	NC_000018.9:g.34340600G>A	(Likely) benign	1 lab	e20c3da3a9
3:184034017 EIF4G1 G>A	3	184034017	184034017	G	A	EIF4G1	c.147+11G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184034017G>A	(Likely) benign	1 lab	e2125ec1b3
13:32914538 BRCA2 T>C	13	32914538	32914538	T	C	BRCA2	c.6046T>C	NM_000059.4	NP_000050.3:p.(Phe2016Leu)	NC_000013.10:g.32914538T>C	(Likely) benign	1 lab	e2144ecb58
14:77901758 VIPAS39 G>GA	14	77901758	77901772	G	GA	VIPAS39	c.913-23dup	NM_001193314.2	NP_001180243.1:p.?	NC_000014.8:g.77901772dup	(Likely) benign	1 lab	e217d697a5
11:2620190 KCNQ1 Ref too long to show for this DEL>T	11	2620190	2623119	Ref too long to show for this DEL	T	KCNQ1	c.1393+10107_1393+13035del	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2620191_2623119del	VUS	1 lab	e21a13d4d9
8:144295132 GPIHBP1 C>T	8	144295132	144295132	C	T	GPIHBP1	c.-11C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295132C>T	VUS	1 lab	e21ac67cf7
5:70936829 MCCC2 G>C	5	70936829	70936829	G	C	MCCC2	c.1000-1G>C	NM_022132.5	NP_071415.1:p.?	NC_000005.9:g.70936829G>C	(Likely) pathogenic	1 lab	e21f06aa61
3:37089991 MLH1 C>G	3	37089991	37089991	C	G	MLH1	c.1897-17C>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37089991C>G	(Likely) benign	1 lab	e21ff0d6cf
4:100511993 MTTP TACACAC>T	4	100511993	100512021	TACACAC	T	MTTP	c.502-376_502-371del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512016_100512021del	(Likely) benign	1 lab	e2221a5633
17:75398751 SEPTIN9 C>T	17	75398751	75398751	C	T	SEPTIN9	c.633C>T	NM_006640.5	NP_006631.2:p.(Pro211=)	NC_000017.10:g.75398751C>T	(Likely) benign	1 lab	e223728a6f
4:121774621 PRDM5 G>A	4	121774621	121774621	G	A	PRDM5	c.252C>T	NM_018699.4	NP_061169.2:p.(Phe84=)	NC_000004.11:g.121774621G>A	(Likely) benign	1 lab	e22499a586
15:44914017 SPG11 C>T	15	44914017	44914017	C	T	SPG11	c.2560G>A	NM_025137.4	NP_079413.3:p.(Ala854Thr)	NC_000015.9:g.44914017C>T	VUS	1 lab	e228d3dbd5
16:21761402 MISSING Ref too long to show for this DEL>C	16	21761402	22441367	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.21761404_22441367del	(Likely) pathogenic	1 lab	e22aa23584
18:32681967 MAPRE2 C>G	18	32681967	32681967	C	G	MAPRE2	c.418C>G	NM_001143827.3	NP_001137299.1:p.(Gln140Glu)	NC_000018.9:g.32681967C>G	VUS	1 lab	e22b9b72c9
16:1570194 IFT140 C>A	16	1570194	1570194	C	A	IFT140	c.3811G>T	NM_014714.4	NP_055529.2:p.(Gly1271Cys)	NC_000016.9:g.1570194C>A	VUS	1 lab	e22f2428b4
1:40769718 COL9A2 A>C	1	40769718	40769718	A	C	COL9A2	c.1323+18T>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769718A>C	(Likely) benign	1 lab	e232077861
17:48271692 COL1A1 G>A	17	48271692	48271692	G	A	COL1A1	c.1614+18C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271692G>A	(Likely) benign	1 lab	e233c6fdc4
10:73494095 C10orf105 C>T	10	73494095	73494095	C	T	C10orf105	c.-6+3390G>A	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73494095C>T	(Likely) benign	1 lab	e2343833c4
9:135147101 SETX T>C	9	135147101	135147101	T	C	SETX	c.7195A>G	NM_001351527.2	NP_001338456.1:p.(Ile2399Val)	NC_000009.11:g.135147101T>C	VUS	1 lab	e2351437a9
1:16259076 SPEN CTG>C	1	16259076	16259078	CTG	C	SPEN	c.6342_6343del	NM_015001.3	NP_055816.2:p.(Val2116GlyfsTer6)	NC_000001.10:g.16259077_16259078del	(Likely) pathogenic	1 lab	e23684d05d
1:197073474 ASPM AC>A	1	197073474	197073475	AC	A	ASPM	c.4906del	NM_018136.5	NP_060606.3:p.(Val1636SerfsTer25)	NC_000001.10:g.197073475del	(Likely) pathogenic	1 lab	e2377d582f
13:26959420 CDK8 C>T	13	26959420	26959420	C	T	CDK8	c.587C>T	NM_001260.3	NP_001251.1:p.(Thr196Ile)	NC_000013.10:g.26959420C>T	(Likely) pathogenic	1 lab	e2399b7230
1:155185611 MISSING G>Alt too long to show for this DUP	1	155185611	155205559	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.155185613_155205559dup	(Likely) benign	1 lab	e23bf38c34
16:28708184 MISSING Ref too long to show for this DEL>G	16	28708184	29051191	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28708186_29051191del	(Likely) pathogenic	1 lab	e23ce9c511
1:34112278 CSMD2 TCA>T	1	34112278	34112282	TCA	T	CSMD2	c.4622_4623del	NM_052896.5	NP_443128.2:p.(Val1541GlufsTer8)	NC_000001.10:g.34112281_34112282del	VUS	1 lab	e23d41ab96
16:68835780 CDH1 G>A	16	68835780	68835780	G	A	CDH1	c.371G>A	NM_004360.5	NP_004351.1:p.(Arg124His)	NC_000016.9:g.68835780G>A	(Likely) benign	1 lab	e23f97a844
2:189910178 COL5A2 C>T	2	189910178	189910178	C	T	COL5A2	c.3310-220G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189910178C>T	(Likely) benign	1 lab	e240287bad
1:214556684 PTPN14 G>A	1	214556684	214556684	G	A	PTPN14	c.2514C>T	NM_005401.5	NP_005392.2:p.(Asp838=)	NC_000001.10:g.214556684G>A	(Likely) benign	1 lab	e240f76690
11:118372446 KMT2A C>T	11	118372446	118372446	C	T	KMT2A	c.6379C>T	NM_001197104.2	NP_001184033.1:p.(Arg2127Ter)	NC_000011.9:g.118372446C>T	(Likely) pathogenic	1 lab	e241922cbb
8:59410838 CYP7A1 G>T	8	59410838	59410838	G	T	CYP7A1	c.271C>A	NM_000780.4	NP_000771.2:p.(His91Asn)	NC_000008.10:g.59410838G>T	VUS	1 lab	e2430e8c77
12:54674623 HNRNPA1 T>G	12	54674623	54674623	T	G	HNRNPA1	c.15+17T>G	NM_031157.4	NP_112420.1:p.?	NC_000012.11:g.54674623T>G	(Likely) benign	1 lab	e24368ac3c
19:48343019 CRX C>T	19	48343019	48343019	C	T	CRX	c.695C>T	NM_000554.6	NP_000545.1:p.(Pro232Leu)	NC_000019.9:g.48343019C>T	VUS	1 lab	e2469e9033
5:127666379 FBN2 C>T	5	127666379	127666379	C	T	FBN2	c.4231G>A	NM_001999.4	NP_001990.2:p.(Glu1411Lys)	NC_000005.9:g.127666379C>T	(Likely) pathogenic	1 lab	e248ea43ea
5:95116013 MISSING C>Alt too long to show for this DUP	5	95116013	95275770	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.95116018_95275770dup	VUS	1 lab	e249e4c875
2:21239465 APOB A>G	2	21239465	21239465	A	G	APOB	c.3178T>C	NM_000384.3	NP_000375.3:p.(Leu1060=)	NC_000002.11:g.21239465A>G	(Likely) benign	1 lab	e24d4948fa
X:11487450 MISSING C>Alt too long to show for this DUP	X	11487450	11793639	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.11487451_11793639dup	VUS	1 lab	e24dd32269
15:48752424 FBN1 C>T	15	48752424	48752424	C	T	FBN1	c.5296+19G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752424C>T	(Likely) benign	1 lab	e24e1e2f0f
2:60689522 BCL11A G>T	2	60689522	60689522	G	T	BCL11A	c.525C>A	NM_022893.4	NP_075044.2:p.(Cys175Ter)	NC_000002.11:g.60689522G>T	(Likely) pathogenic	1 lab	e24f74334a
18:34320642 FHOD3 C>T	18	34320642	34320642	C	T	FHOD3	c.3075C>T	NM_025135.5	NP_079411.2:p.(Thr1025=)	NC_000018.9:g.34320642C>T	(Likely) benign	1 lab	e250adea53
Y:21885321 KDM5D T>TA	Y	21885321	21885331	T	TA	KDM5D	c.1372-2125dup	NM_004653.5	NP_004644.2:p.?	NC_000024.9:g.21885331dup	(Likely) benign	1 lab	e252c4fd35
14:23889434 MYH7 C>T	14	23889434	23889434	C	T	MYH7	c.3346G>A	NM_000257.4	NP_000248.2:p.(Glu1116Lys)	NC_000014.8:g.23889434C>T	(Likely) pathogenic	1 lab	e255f1081d
4:104061452 CENPE T>C	4	104061452	104061452	T	C	CENPE	c.5874A>G	NM_001813.3	NP_001804.2:p.(Gln1958=)	NC_000004.11:g.104061452T>C	(Likely) benign	1 lab	e256d72c17
11:47368633 MYBPC3 G>A	11	47368633	47368633	G	A	MYBPC3	c.906-53C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368633G>A	(Likely) benign	1 lab	e257ea65d8
15:48787351 FBN1 CG>C	15	48787351	48787352	CG	C	FBN1	c.2645del	NM_000138.5	NP_000129.3:p.(Ala882GlyfsTer30)	NC_000015.9:g.48787352del	(Likely) pathogenic	1 lab	e25a1f0e4c
1:94526934 ABCA4 T>C	1	94526934	94526934	T	C	ABCA4	c.1938-619A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94526934T>C	(Likely) pathogenic	1 lab	e25d5d98dc
10:73765708 CHST3 C>G	10	73765708	73765708	C	G	CHST3	c.108C>G	NM_004273.5	NP_004264.2:p.(Val36=)	NC_000010.10:g.73765708C>G	(Likely) benign	1 lab	e25f74525f
16:50825508 CYLD A>G	16	50825508	50825508	A	G	CYLD	c.2148A>G	NM_015247.3	NP_056062.1:p.(Gln716=)	NC_000016.9:g.50825508A>G	VUS	1 lab	e2616e8dba
2:238232751 COL6A3 AC>A	2	238232751	238232752	AC	A	COL6A3	c.*665del	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238232752del	(Likely) benign	1 lab	e263ce8f80
2:21230900 APOB C>G	2	21230900	21230900	C	G	APOB	c.8840G>C	NM_000384.3	NP_000375.3:p.(Ser2947Thr)	NC_000002.11:g.21230900C>G	(Likely) benign	1 lab	e2649e8fea
6:72892546 RIMS1 C>T	6	72892546	72892546	C	T	RIMS1	c.1372C>T	NM_014989.6	NP_055804.2:p.(Pro458Ser)	NC_000006.11:g.72892546C>T	VUS	1 lab	e26679dd39
4:123269804 BLTP1 C>T	4	123269804	123269804	C	T	BLTP1	c.13212C>T	NM_015312.4	NP_056127.2:p.(Val4404=)	NC_000004.11:g.123269804C>T	(Likely) pathogenic	1 lab	e269221316
14:99642241 BCL11B G>A	14	99642241	99642241	G	A	BCL11B	c.932C>T	NM_138576.4	NP_612808.1:p.(Pro311Leu)	NC_000014.8:g.99642241G>A	VUS	1 lab	e269d10e70
X:151438953 GABRA3 C>Alt too long to show for this DUP	X	151438953	151510981	C	Alt too long to show for this DUP	GABRA3	c.262+3072_330+14186dup	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151438954_151510981dup	VUS	1 lab	e26d968fdb
11:73785327 C2CD3 A>G	11	73785327	73785327	A	G	C2CD3	c.4922T>C	NM_001286577.2	NP_001273506.1:p.(Val1641Ala)	NC_000011.9:g.73785327A>G	VUS	1 lab	e26f77d2c5
3:78717307 ROBO1 T>C	3	78717307	78717307	T	C	ROBO1	c.1668A>G	NM_133631.4	NP_598334.2:p.(Thr556=)	NC_000003.11:g.78717307T>C	(Likely) benign	1 lab	e26fcea355
5:178579134 ADAMTS2 C>T	5	178579134	178579134	C	T	ADAMTS2	c.1629+9G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178579134C>T	(Likely) benign	1 lab	e272162cd3
12:133235962 POLE C>T	12	133235962	133235962	C	T	POLE	c.3194G>A	NM_006231.4	NP_006222.2:p.(Gly1065Glu)	NC_000012.11:g.133235962C>T	VUS	1 lab	e278c11a3b
9:107550741 ABCA1 A>G	9	107550741	107550741	A	G	ABCA1	c.6035T>C	NM_005502.4	NP_005493.2:p.(Leu2012Pro)	NC_000009.11:g.107550741A>G	VUS	1 lab	e2797bac62
9:75746051 MISSING Ref too long to show for this DEL>T	9	75746051	75799246	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.75746052_75799246del	VUS	1 lab	e27c346e6e
16:961413 LMF1 A>G	16	961413	961413	A	G	LMF1	c.515-334T>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.961413A>G	(Likely) benign	1 lab	e27ef5083d
11:2620633 KCNQ1 Ref too long to show for this DEL>A	11	2620633	2623232	Ref too long to show for this DEL	A	KCNQ1	c.1393+10550_1393+13148del	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2620634_2623232del	VUS	1 lab	e27f3201a1
18:21124908 NPC1 C>CCA	18	21124908	21124910	C	CCA	NPC1	c.1947+15_1947+16insTG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124909_21124910insAC	(Likely) benign	1 lab	e282cf9b8b
2:179614718 TTN C>G	2	179614718	179614718	C	G	TTN	c.12409G>C	NM_133379.5	NP_596870.2:p.(Asp4137His)	NC_000002.11:g.179614718C>G	VUS	1 lab	e285de896a
12:33049468 PKP2 C>T	12	33049468	33049468	C	T	PKP2	c.198G>A	NM_004572.4	NP_004563.2:p.(Arg66=)	NC_000012.11:g.33049468C>T	(Likely) benign	1 lab	e28f77db96
14:23884858 MYH7 C>T	14	23884858	23884858	C	T	MYH7	c.5137G>A	NM_000257.4	NP_000248.2:p.(Val1713Met)	NC_000014.8:g.23884858C>T	VUS	1 lab	e29400ce6d
6:32013974 TNXB C>T	6	32013974	32013974	C	T	TNXB	c.10578G>A	NM_019105.8	NP_061978.6:p.(Pro3526=)	NC_000006.11:g.32013974C>T	(Likely) benign	1 lab	e296625181
4:39219589 WDR19 T>A	4	39219589	39219589	T	A	WDR19	c.1357-14T>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39219589T>A	(Likely) benign	1 lab	e296a90fef
8:19813969 LPL G>GT	8	19813969	19813976	G	GT	LPL	c.1018+382dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813976dup	(Likely) benign	1 lab	e29ba1e478
6:10818187 MAK A>C	6	10818187	10818187	A	C	MAK	c.174T>G	NM_001242957.3	NP_001229886.1:p.(Asn58Lys)	NC_000006.11:g.10818187A>C	VUS	1 lab	e29ce1abd0
12:57892407 MARS1 G>A	12	57892407	57892407	G	A	MARS1	c.1091+1G>A	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57892407G>A	VUS	1 lab	e2a58ed69f
2:179485076 TTN G>A	2	179485076	179485076	G	A	TTN	c.46172C>T	NM_001267550.2	NP_001254479.2:p.(Thr15391Ile)	NC_000002.11:g.179485076G>A	VUS	1 lab	e2a5cde4fc
2:179497316 TTN C>G	2	179497316	179497316	C	G	TTN	c.43417G>C	NM_001267550.2	NP_001254479.2:p.(Asp14473His)	NC_000002.11:g.179497316C>G	(Likely) benign	1 lab	e2a8503c30
7:91753109 CYP51A1 G>A	7	91753109	91753109	G	A	CYP51A1	c.829C>T	NM_000786.4	NP_000777.1:p.(Arg277Cys)	NC_000007.13:g.91753109G>A	(Likely) pathogenic	1 lab	e2aa11d70a
X:154826472 MISSING T>Alt too long to show for this DUP	X	154826472	154985960	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154826474_154985960dup	VUS	1 lab	e2ae6488d0
5:127637528 FBN2 G>A	5	127637528	127637528	G	A	FBN2	c.5918-326C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127637528G>A	(Likely) benign	1 lab	e2aedbc3c7
6:7585950 DSP A>C	6	7585950	7585950	A	C	DSP	c.8455A>C	NM_004415.4	NP_004406.2:p.(Met2819Leu)	NC_000006.11:g.7585950A>C	(Likely) benign	1 lab	e2af3e9762
2:15496411 NBAS T>C	2	15496411	15496411	T	C	NBAS	c.3931+16A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15496411T>C	(Likely) benign	1 lab	e2b2179422
15:85401382 ALPK3 C>G	15	85401382	85401382	C	G	ALPK3	c.3413C>G	NM_020778.5	NP_065829.4:p.(Ser1138Cys)	NC_000015.9:g.85401382C>G	VUS	1 lab	e2b3ef15e1
6:56494053 DST G>T	6	56494053	56494053	G	T	DST	c.4371C>A	NM_001144769.5	NP_001138241.1:p.(Asp1457Glu)	NC_000006.11:g.56494053G>T	VUS	1 lab	e2b7c56334
2:44047139 ABCG5 C>CA	2	44047139	44047141	C	CA	ABCG5	c.1563dup	NM_022436.3	NP_071881.1:p.(Gly522TrpfsTer39)	NC_000002.11:g.44047141dup	(Likely) pathogenic	1 lab	e2b922ba88
4:128861068 MFSD8 G>A	4	128861068	128861068	G	A	MFSD8	c.638C>T	NM_152778.3	NP_689991.1:p.(Pro213Leu)	NC_000004.11:g.128861068G>A	VUS	1 lab	e2ba506bf0
16:29567295 MISSING Ref too long to show for this DEL>A	16	29567295	30320307	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567296_30320307del	(Likely) pathogenic	1 lab	e2bae0f795
15:28518114 HERC2 TC>T	15	28518114	28518116	TC	T	HERC2	c.836del	NM_004667.6	NP_004658.3:p.(Gly279GlufsTer25)	NC_000015.9:g.28518116del	(Likely) benign	1 lab	e2c009f550
16:81965124 PLCG2 C>G	16	81965124	81965124	C	G	PLCG2	c.2604C>G	NM_002661.5	NP_002652.2:p.(Asn868Lys)	NC_000016.9:g.81965124C>G	VUS	1 lab	e2c08a2b1a
19:5150450 KDM4B C>T	19	5150450	5150450	C	T	KDM4B	c.3103C>T	NM_015015.3	NP_055830.1:p.(Arg1035Cys)	NC_000019.9:g.5150450C>T	VUS	1 lab	e2c33a9a37
6:56765342 DST G>A	6	56765342	56765342	G	A	DST	c.294C>T	NM_001144769.5	NP_001138241.1:p.(Pro98=)	NC_000006.11:g.56765342G>A	(Likely) benign	1 lab	e2c53682ab
10:73501673 CDH23 C>T	10	73501673	73501673	C	T	CDH23	c.4840C>T	NM_022124.6	NP_071407.4:p.(Leu1614=)	NC_000010.10:g.73501673C>T	(Likely) benign	1 lab	e2c5b3456b
2:179397065 TTN C>T	2	179397065	179397065	C	T	TTN	c.104277G>A	NM_001267550.2	NP_001254479.2:p.(Lys34759=)	NC_000002.11:g.179397065C>T	(Likely) benign	1 lab	e2c7056cfd
3:38592409 SCN5A G>A	3	38592409	38592409	G	A	SCN5A	c.5454C>T	NM_198056.3	NP_932173.1:p.(Ala1818=)	NC_000003.11:g.38592409G>A	(Likely) benign	1 lab	e2c70fec4b
X:149840049 MTM1 A>G	X	149840049	149840049	A	G	MTM1	c.1793A>G	NM_001376908.1	NP_001363837.1:p.(His598Arg)	NC_000023.10:g.149840049A>G	(Likely) benign	1 lab	e2c9946c6c
15:45404098 DUOX2 C>T	15	45404098	45404098	C	T	DUOX2	c.381G>A	NM_014080.5	NP_054799.4:p.(Glu127=)	NC_000015.9:g.45404098C>T	(Likely) benign	1 lab	e2d1fb026c
12:2693772 CACNA1C G>A	12	2693772	2693772	G	A	CACNA1C	c.2328G>A	NM_000719.7	NP_000710.5:p.(Lys776=)	NC_000012.11:g.2693772G>A	(Likely) benign	1 lab	e2d2c6712c
14:21162086 ANG A>T	14	21162086	21162086	A	T	ANG	c.363A>T	NM_001145.4	NP_001136.1:p.(Thr121=)	NC_000014.8:g.21162086A>T	(Likely) benign	1 lab	e2da858dab
1:11217222 MTOR C>A	1	11217222	11217222	C	A	MTOR	c.4456G>T	NM_004958.4	NP_004949.1:p.(Ala1486Ser)	NC_000001.10:g.11217222C>A	(Likely) pathogenic	1 lab	e2dc163788
12:59283783 LRIG3 T>C	12	59283783	59283783	T	C	LRIG3	c.654A>G	NM_153377.5	NP_700356.2:p.(Gln218=)	NC_000012.11:g.59283783T>C	(Likely) benign	1 lab	e2dd1ef7bd
19:55668416 TNNI3 A>G	19	55668416	55668416	A	G	TNNI3	c.108+2T>C	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668416A>G	VUS	1 lab	e2de89212a
7:107746309 LAMB4 G>A	7	107746309	107746309	G	A	LAMB4	c.823C>T	NM_007356.3	NP_031382.2:p.(Arg275Cys)	NC_000007.13:g.107746309G>A	(Likely) benign	1 lab	e2df7011b0
5:127611796 FBN2 CAG>C	5	127611796	127611798	CAG	C	FBN2	c.7526_7527del	NM_001999.4	NP_001990.2:p.(Thr2509ArgfsTer25)	NC_000005.9:g.127611797_127611798del	(Likely) pathogenic	1 lab	e2e0a5bb77
8:760635 DLGAP2 A>Alt too long to show for this DUP	8	760635	970233	A	Alt too long to show for this DUP	DLGAP2	c.18+72813_73+112267dup	NM_001346810.2	NP_001333739.1:p.?	NC_000008.10:g.760638_970233dup	VUS	1 lab	e2e271effc
6:100896068 SIM1 A>G	6	100896068	100896068	A	G	SIM1	c.804T>C	NM_005068.3	NP_005059.2:p.(His268=)	NC_000006.11:g.100896068A>G	(Likely) benign	1 lab	e2e2fdf74e
15:48755202 FBN1 G>A	15	48755202	48755202	G	A	FBN1	c.5224+77C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48755202G>A	(Likely) benign	1 lab	e2e5f6f9c7
17:15134397 PMP22 C>A	17	15134397	15134397	C	A	PMP22	c.320G>T	NM_001281456.2	NP_001268385.1:p.(Gly107Val)	NC_000017.10:g.15134397C>A	(Likely) pathogenic	1 lab	e2e79c7191
Y:5270346 PCDH11Y A>Alt too long to show for this DUP	Y	5270346	5349787	A	Alt too long to show for this DUP	PCDH11Y	c.2854-98751_2854-19311dup	NM_001395587.1	NP_001382516.1:p.?	NC_000024.9:g.5270347_5349787dup	(Likely) pathogenic	1 lab	e2ea78b96c
17:34522695 CCL3L3 A>G	17	34522695	34522695	A	G	CCL3L3	c.272T>C	NM_001001437.4	NP_001001437.2:p.(Leu91Pro)	NC_000017.10:g.34522695A>G	(Likely) benign	1 lab	e2ed7da042
12:5021044 KCNA1 G>T	12	5021044	5021044	G	T	KCNA1	c.500G>T	NM_000217.3	NP_000208.2:p.(Arg167Met)	NC_000012.11:g.5021044G>T	(Likely) pathogenic	1 lab	e2f5b4ed0c
X:70443822 GJB1 C>G	X	70443822	70443822	C	G	GJB1	c.265C>G	NM_000166.6	NP_000157.1:p.(Leu89Val)	NC_000023.10:g.70443822C>G	(Likely) pathogenic	1 lab	e2f6c0b0ef
2:179574333 TTN A>G	2	179574333	179574333	A	G	TTN	c.28713T>C	NM_001267550.2	NP_001254479.2:p.(Asp9571=)	NC_000002.11:g.179574333A>G	(Likely) benign	1 lab	e2f7a9cc23
16:15854693 MYH11 C>T	16	15854693	15854693	C	T	MYH11	c.1151-178G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15854693C>T	(Likely) benign	1 lab	e2fc5c8a24
9:107581996 ABCA1 G>A	9	107581996	107581996	G	A	ABCA1	c.3112C>T	NM_005502.4	NP_005493.2:p.(Gln1038Ter)	NC_000009.11:g.107581996G>A	(Likely) pathogenic	1 lab	e2fccf3f6c
6:100838360 SIM1 G>A	6	100838360	100838360	G	A	SIM1	c.2178C>T	NM_005068.3	NP_005059.2:p.(Thr726=)	NC_000006.11:g.100838360G>A	(Likely) benign	1 lab	e3024fe870
6:111498488 SLC16A10 T>C	6	111498488	111498488	T	C	SLC16A10	c.562T>C	NM_018593.5	NP_061063.2:p.(Leu188=)	NC_000006.11:g.111498488T>C	(Likely) benign	1 lab	e302c61e66
9:87636209 NTRK2 C>T	9	87636209	87636209	C	T	NTRK2	c.2374C>T	NM_006180.6	NP_006171.2:p.(Arg792Cys)	NC_000009.11:g.87636209C>T	VUS	1 lab	e30305969e
22:29886694 NEFH G>T	22	29886694	29886694	G	T	NEFH	c.*2G>T	NM_021076.4	NP_066554.2:p.?	NC_000022.10:g.29886694G>T	(Likely) benign	1 lab	e30667ddfa
6:16140827 MYLIP C>G	6	16140827	16140827	C	G	MYLIP	c.279-1029C>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16140827C>G	(Likely) benign	1 lab	e306c1807a
8:10480341 RP1L1 G>A	8	10480341	10480341	G	A	RP1L1	c.371C>T	NM_178857.6	NP_849188.4:p.(Pro124Leu)	NC_000008.10:g.10480341G>A	VUS	1 lab	e3089961ab
16:10032321 GRIN2A G>T	16	10032321	10032321	G	T	GRIN2A	c.502C>A	NM_001134407.3	NP_001127879.1:p.(His168Asn)	NC_000016.9:g.10032321G>T	VUS	1 lab	e3089bb421
1:3802792 MISSING Ref too long to show for this DEL>G	1	3802792	3823255	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.3802793_3823255del	VUS	1 lab	e30b384864
3:123451924 MYLK C>T	3	123451924	123451924	C	T	MYLK	c.1335G>A	NM_053025.4	NP_444253.3:p.(Val445=)	NC_000003.11:g.123451924C>T	(Likely) benign	1 lab	e30d36ec23
5:38530672 LIFR G>A	5	38530672	38530672	G	A	LIFR	c.78C>T	NM_001127671.2	NP_001121143.1:p.(Phe26=)	NC_000005.9:g.38530672G>A	(Likely) benign	1 lab	e30d3fc407
22:50898564 SBF1 G>A	22	50898564	50898564	G	A	SBF1	c.3308C>T	NM_002972.4	NP_002963.2:p.(Thr1103Met)	NC_000022.10:g.50898564G>A	VUS	1 lab	e30db2bf03
9:125487015 OR1L4 G>A	9	125487015	125487015	G	A	OR1L4	c.747G>A	NM_001005235.1	NP_001005235.1:p.(Val249=)	NC_000009.11:g.125487015G>A	(Likely) benign	1 lab	e31381b558
5:138269589 CTNNA1 A>G	5	138269589	138269589	A	G	CTNNA1	c.2532A>G	NM_001903.5	NP_001894.2:p.(Gln844=)	NC_000005.9:g.138269589A>G	(Likely) benign	1 lab	e3166d3ec5
11:126145222 FOXRED1 G>C	11	126145222	126145222	G	C	FOXRED1	c.632G>C	NM_017547.4	NP_060017.1:p.(Gly211Ala)	NC_000011.9:g.126145222G>C	VUS	1 lab	e317a3180d
2:219677061 CYP27A1 G>A	2	219677061	219677061	G	A	CYP27A1	c.563G>A	NM_000784.4	NP_000775.1:p.(Arg188Gln)	NC_000002.11:g.219677061G>A	VUS	1 lab	e31885e95c
11:47366989 MYBPC3 G>T	11	47366989	47366989	G	T	MYBPC3	c.1090+769C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366989G>T	(Likely) benign	1 lab	e31a5aa907
7:153749932 DPP6 T>C	7	153749932	153749932	T	C	DPP6	c.27T>C	NM_130797.4	NP_570629.2:p.(Thr9=)	NC_000007.13:g.153749932T>C	(Likely) benign	1 lab	e31b71ee23
1:237955600 RYR2 A>C	1	237955600	237955600	A	C	RYR2	c.13759A>C	NM_001035.3	NP_001026.2:p.(Ile4587Leu)	NC_000001.10:g.237955600A>C	VUS	1 lab	e31be9ddda
2:179472166 TTN C>CTATTTGT	2	179472166	179472167	C	CTATTTGT	TTN	c.53248_53249insACAAATA	NM_001267550.2	NP_001254479.2:p.(Cys17750TyrfsTer3)	NC_000002.11:g.179472166_179472167insTATTTGT	(Likely) pathogenic	1 lab	e31e56235f
15:22770420 MISSING Ref too long to show for this DEL>A	15	22770420	23207333	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770421_23207333del	(Likely) pathogenic	1 lab	e3212d6699
20:2644558 IDH3B G>C	20	2644558	2644558	G	C	IDH3B	c.117+13C>G	NM_006899.5	NP_008830.2:p.?	NC_000020.10:g.2644558G>C	(Likely) benign	1 lab	e325824e53
4:15511824 CC2D2A G>T	4	15511824	15511824	G	T	CC2D2A	c.501G>T	NM_001080522.2	NP_001073991.2:p.(Lys167Asn)	NC_000004.11:g.15511824G>T	(Likely) benign	1 lab	e328bb9fc5
4:8869544 HMX1 G>A	4	8869544	8869544	G	A	HMX1	c.922C>T	NM_018942.3	NP_061815.2:p.(Pro308Ser)	NC_000004.11:g.8869544G>A	VUS	1 lab	e32922103e
16:46766443 MYLK3 C>T	16	46766443	46766443	C	T	MYLK3	c.1139G>A	NM_182493.3	NP_872299.2:p.(Arg380His)	NC_000016.9:g.46766443C>T	VUS	1 lab	e32e4c9848
2:26951115 KCNK3 G>T	2	26951115	26951115	G	T	KCNK3	c.864G>T	NM_002246.3	NP_002237.1:p.(Thr288=)	NC_000002.11:g.26951115G>T	(Likely) benign	1 lab	e330a6c082
5:35094207 PRLR T>Alt too long to show for this DUP	5	35094207	35154919	T	Alt too long to show for this DUP	PRLR	c.-105-36694_-43-4443dup	NM_000949.7	NP_000940.1:p.?	NC_000005.9:g.35094209_35154919dup	VUS	1 lab	e33454cc2e
5:7869235 MTRR T>C	5	7869235	7869235	T	C	MTRR				NC_000005.9:g.7869235T>C	(Likely) benign	1 lab	e334f27203
X:31661788 DMD Ref too long to show for this DEL>T	X	31661788	31875058	Ref too long to show for this DEL	T	DMD	c.7098+18247_8027+14318del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31661789_31875058del	(Likely) pathogenic	1 lab	e336c2b6ba
16:86601733 FOXC2 C>CA	16	86601733	86601735	C	CA	FOXC2	c.794dup	NM_005251.3	NP_005242.1:p.(Asn265LysfsTer198)	NC_000016.9:g.86601735dup	(Likely) pathogenic	1 lab	e33864d3ef
1:74905291 FPGT-TNNI3K G>A	1	74905291	74905291	G	A	FPGT-TNNI3K	c.2299G>A	NM_001112808.3	NP_001106279.3:p.(Ala767Thr)	NC_000001.10:g.74905291G>A	(Likely) benign	1 lab	e3389b8ba3
14:105167728 INF2 G>GC	14	105167728	105167729	G	GC	INF2	c.27dup	NM_022489.4	NP_071934.3:p.(Lys10GlnfsTer136)	NC_000014.8:g.105167729dup	VUS	1 lab	e33946a550
1:6535546 PLEKHG5 C>T	1	6535546	6535546	C	T	PLEKHG5	c.186G>A	NM_198681.4	NP_941374.3:p.(Lys62=)	NC_000001.10:g.6535546C>T	(Likely) benign	1 lab	e339f6f968
16:57974243 CNGB1 G>A	16	57974243	57974243	G	A	CNGB1	c.1122-18C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57974243G>A	(Likely) benign	1 lab	e33a77bb3c
15:48760478 FBN1 TA>T	15	48760478	48760481	TA	T	FBN1	c.4582+130del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760481del	(Likely) benign	1 lab	e33a80c84f
11:108143264 ATM T>TA	11	108143264	108143266	T	TA	ATM	c.3085dup	NM_000051.4	NP_000042.3:p.(Thr1029AsnfsTer19)	NC_000011.9:g.108143266dup	(Likely) pathogenic	1 lab	e33b61f75b
19:11224398 LDLR G>A	19	11224398	11224398	G	A	LDLR	c.1546G>A	NM_000527.5	NP_000518.1:p.(Gly516Ser)	NC_000019.9:g.11224398G>A	VUS	1 lab	e33c918c37
12:21294293 SLCO1B1 T>G	12	21294293	21294293	T	G	SLCO1B1	c.-61-155T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21294293T>G	(Likely) benign	1 lab	e33f1ef2df
8:24811072 NEFL C>T	8	24811072	24811072	C	T	NEFL	c.1407delinsAC	NM_006158.5	NP_006149.2:p.(Ser472LeufsTer2)	NC_000008.10:g.24811072C>T	(Likely) benign	1 lab	e34103ea02
15:48780037 FBN1 T>C	15	48780037	48780037	T	C	FBN1	c.3337+273A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780037T>C	(Likely) benign	1 lab	e342913358
19:8165868 FBN3 G>A	19	8165868	8165868	G	A	FBN3	c.5090-12C>T	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8165868G>A	(Likely) benign	1 lab	e342f1b413
X:135441496 ADGRG4 C>T	X	135441496	135441496	C	T	ADGRG4	c.7026C>T	NM_153834.4	NP_722576.3:p.(Ser2342=)	NC_000023.10:g.135441496C>T	(Likely) benign	1 lab	e3434ded1d
22:50885581 SBF1 G>A	22	50885581	50885581	G	A	SBF1	c.5672C>T	NM_002972.4	NP_002963.2:p.(Ser1891Leu)	NC_000022.10:g.50885581G>A	VUS	1 lab	e343ba05e8
4:154216695 TRIM2 C>T	4	154216695	154216695	C	T	TRIM2	c.936C>T	NM_001130067.2	NP_001123539.1:p.(Ile312=)	NC_000004.11:g.154216695C>T	(Likely) benign	1 lab	e34435cde7
7:150649542 KCNH2 G>A	7	150649542	150649542	G	A	KCNH2	c.1528C>T	NM_000238.4	NP_000229.1:p.(Leu510=)	NC_000007.13:g.150649542G>A	(Likely) benign	1 lab	e345b72060
2:220146680 DNAJB2 A>G	2	220146680	220146680	A	G	DNAJB2	c.249A>G	NM_006736.6	NP_006727.2:p.(Ala83=)	NC_000002.11:g.220146680A>G	(Likely) benign	1 lab	e34de7f010
12:49433521 KMT2D C>G	12	49433521	49433521	C	G	KMT2D	c.8032G>C	NM_003482.4	NP_003473.3:p.(Glu2678Gln)	NC_000012.11:g.49433521C>G	VUS	1 lab	e34e768768
3:38601993 SCN5A C>A	3	38601993	38601993	C	A	SCN5A	c.3964-74G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38601993C>A	(Likely) benign	1 lab	e351a46970
17:34148873 MISSING C>Alt too long to show for this DUP	17	34148873	34649973	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.34148874_34649973dup	VUS	1 lab	e3522256b0
6:16146949 MYLIP G>A	6	16146949	16146949	G	A	MYLIP	c.1305G>A	NM_013262.4	NP_037394.2:p.(Thr435=)	NC_000006.11:g.16146949G>A	(Likely) benign	1 lab	e35225c291
19:50720991 MYH14 C>T	19	50720991	50720991	C	T	MYH14	c.525C>T	NM_001145809.2	NP_001139281.1:p.(Tyr175=)	NC_000019.9:g.50720991C>T	(Likely) benign	1 lab	e3522ad874
5:13714591 DNAH5 C>A	5	13714591	13714591	C	A	DNAH5	c.13048G>T	NM_001369.3	NP_001360.1:p.(Glu4350Ter)	NC_000005.9:g.13714591C>A	(Likely) pathogenic	1 lab	e35399b644
2:219677320 CYP27A1 G>A	2	219677320	219677320	G	A	CYP27A1	c.692G>A	NM_000784.4	NP_000775.1:p.(Arg231Gln)	NC_000002.11:g.219677320G>A	(Likely) benign	1 lab	e3549a637f
2:44051072 ABCG5 A>C	2	44051072	44051072	A	C	ABCG5	c.1304T>G	NM_022436.3	NP_071881.1:p.(Met435Arg)	NC_000002.11:g.44051072A>C	VUS	1 lab	e35692a8a8
5:178564807 ADAMTS2 G>A	5	178564807	178564807	G	A	ADAMTS2	c.1914C>T	NM_014244.5	NP_055059.2:p.(Asp638=)	NC_000005.9:g.178564807G>A	(Likely) benign	1 lab	e3569dc9bf
7:138554497 KIAA1549 G>A	7	138554497	138554497	G	A	KIAA1549	c.4562C>T	NM_001164665.2	NP_001158137.1:p.(Ala1521Val)	NC_000007.13:g.138554497G>A	(Likely) benign	1 lab	e358139c74
8:38277194 FGFR1 A>G	8	38277194	38277194	A	G	FGFR1	c.1141T>C	NM_023110.3	NP_075598.2:p.(Cys381Arg)	NC_000008.10:g.38277194A>G	(Likely) pathogenic	1 lab	e35ec06e7d
3:9824189 MISSING G>Alt too long to show for this DUP	3	9824189	10270371	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.9824190_10270371dup	VUS	1 lab	e35ed7be05
16:29825199 PRRT2 C>T	16	29825199	29825199	C	T	PRRT2	c.824C>T	NM_001256443.2	NP_001243372.1:p.(Ser275Phe)	NC_000016.9:g.29825199C>T	(Likely) pathogenic	1 lab	e360f7ab87
4:119718928 SEC24D G>A	4	119718928	119718928	G	A	SEC24D	c.954C>T	NM_001318066.2	NP_001304995.1:p.(Tyr318=)	NC_000004.11:g.119718928G>A	(Likely) benign	1 lab	e36437ee74
2:179408728 TTN C>A	2	179408728	179408728	C	A	TTN	c.88439G>T	NM_133378.4	NP_596869.4:p.(Trp29480Leu)	NC_000002.11:g.179408728C>A	VUS	1 lab	e365b35bb6
19:55667704 TNNI3 C>CACT	19	55667704	55667706	C	CACT	TNNI3	c.151-5_151-4insAGT	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667705_55667706insCTA	VUS	1 lab	e367ba20c9
18:47101903 LIPG G>T	18	47101903	47101903	G	T	LIPG	c.736G>T	NM_006033.4	NP_006024.1:p.(Gly246Cys)	NC_000018.9:g.47101903G>T	VUS	1 lab	e3681a758e
2:238269871 COL6A3 C>G	2	238269871	238269871	C	G	COL6A3	c.6157-54G>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238269871C>G	(Likely) benign	1 lab	e36857d47f
6:33391277 SYNGAP1 C>T	6	33391277	33391277	C	T	SYNGAP1	c.91C>T	NM_006772.3	NP_006763.2:p.(Arg31Ter)	NC_000006.11:g.33391277C>T	(Likely) pathogenic	1 lab	e36ac83917
6:33400459 SYNGAP1 C>G	6	33400459	33400459	C	G	SYNGAP1	c.388-3C>G	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33400459C>G	VUS	1 lab	e36eb8aff1
15:73635820 HCN4 C>T	15	73635820	73635820	C	T	HCN4	c.1115G>A	NM_005477.3	NP_005468.1:p.(Arg372Gln)	NC_000015.9:g.73635820C>T	VUS	1 lab	e36f7a24cb
11:65307337 LTBP3 C>T	11	65307337	65307337	C	T	LTBP3	c.3401G>A	NM_001130144.3	NP_001123616.1:p.(Arg1134Gln)	NC_000011.9:g.65307337C>T	VUS	1 lab	e3703cb1fb
14:102504786 DYNC1H1 G>A	14	102504786	102504786	G	A	DYNC1H1	c.10909-11G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102504786G>A	(Likely) benign	1 lab	e371555872
15:50581869 GABPB1 G>GA	15	50581869	50581881	G	GA	GABPB1	c.734-5dup	NM_001320910.2	NP_001307839.1:p.?	NC_000015.9:g.50581881dup	(Likely) benign	1 lab	e371d75194
3:123356926 MYLK G>A	3	123356926	123356926	G	A	MYLK	c.4953C>T	NM_053025.4	NP_444253.3:p.(Cys1651=)	NC_000003.11:g.123356926G>A	(Likely) benign	1 lab	e375bb5067
10:128876846 MISSING Ref too long to show for this DEL>A	10	128876846	132367045	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.128876849_132367045del	(Likely) pathogenic	1 lab	e3769175a7
5:127686496 FBN2 A>T	5	127686496	127686496	A	T	FBN2	c.2812+64T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127686496A>T	(Likely) benign	1 lab	e377a7f152
14:88411878 GALC T>A	14	88411878	88411878	T	A	GALC	c.1670+19A>T	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88411878T>A	(Likely) benign	1 lab	e37c1517f8
3:189681846 P3H2 T>C	3	189681846	189681846	T	C	P3H2	c.1935A>G	NM_018192.4	NP_060662.2:p.(Ser645=)	NC_000003.11:g.189681846T>C	(Likely) benign	1 lab	e37f56a29d
17:48276639 COL1A1 AG>A	17	48276639	48276640	AG	A	COL1A1	c.418del	NM_000088.4	NP_000079.2:p.(Leu140PhefsTer125)	NC_000017.10:g.48276640del	(Likely) pathogenic	1 lab	e3870cc1a9
8:19816763 LPL C>G	8	19816763	19816763	C	G	LPL	c.1019-8C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816763C>G	VUS	1 lab	e3880bcef9
12:48369327 COL2A1 A>G	12	48369327	48369327	A	G	COL2A1	c.3659T>C	NM_001844.5	NP_001835.3:p.(Met1220Thr)	NC_000012.11:g.48369327A>G	(Likely) benign	1 lab	e388d428db
5:90445874 ADGRV1 A>T	5	90445874	90445874	A	T	ADGRV1	c.18460A>T	NM_032119.4	NP_115495.3:p.(Ile6154Phe)	NC_000005.9:g.90445874A>T	(Likely) benign	1 lab	e389a388b5
1:237666649 RYR2 T>C	1	237666649	237666649	T	C	RYR2	c.2457T>C	NM_001035.3	NP_001026.2:p.(Tyr819=)	NC_000001.10:g.237666649T>C	(Likely) benign	1 lab	e38ab6c4d3
14:88459795 GALC C>T	14	88459795	88459795	C	T	GALC	c.49G>A	NM_001201402.2	NP_001188331.1:p.(Ala17Thr)	NC_000014.8:g.88459795C>T	(Likely) benign	1 lab	e38f59cb7b
17:57676796 DHX40 A>G	17	57676796	57676796	A	G	DHX40	c.1758A>G	NM_024612.5	NP_078888.4:p.(Ala586=)	NC_000017.10:g.57676796A>G	(Likely) benign	1 lab	e390ec7ce7
2:32422884 SLC30A6 C>T	2	32422884	32422884	C	T	SLC30A6	c.774C>T	NM_001193513.3	NP_001180442.1:p.(Leu258=)	NC_000002.11:g.32422884C>T	(Likely) benign	1 lab	e3951073fd
X:38164037 RPGR G>C	X	38164037	38164037	G	C	RPGR	c.785C>G	NM_001034853.2	NP_001030025.1:p.(Ala262Gly)	NC_000023.10:g.38164037G>C	(Likely) benign	1 lab	e3984ec65e
4:177713372 VEGFC AGGC>A	4	177713372	177713389	AGGC	A	VEGFC	c.91_93del	NM_005429.5	NP_005420.1:p.(Ala31del)	NC_000004.11:g.177713387_177713389del	(Likely) benign	1 lab	e398830e3d
3:75786430 ZNF717 C>T	3	75786430	75786430	C	T	ZNF717	c.2344G>A	NM_001128223.3	NP_001121695.1:p.(Gly782Arg)	NC_000003.11:g.75786430C>T	(Likely) benign	1 lab	e39a93f13c
16:929395 LMF1 G>A	16	929395	929395	G	A	LMF1	c.498+175C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929395G>A	(Likely) benign	1 lab	e39b799244
X:49065081 CACNA1F C>A	X	49065081	49065081	C	A	CACNA1F	c.5050G>T	NM_005183.4	NP_005174.2:p.(Gly1684Trp)	NC_000023.10:g.49065081C>A	(Likely) benign	1 lab	e39cf321d9
22:18617039 MISSING Ref too long to show for this DEL>G	22	18617039	18651673	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.18617040_18651673del	VUS	1 lab	e39e05491f
17:48266160 COL1A1 C>CAG	17	48266160	48266177	C	CAG	COL1A1	c.3046-6_3046-5dup	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266176_48266177dup	(Likely) benign	1 lab	e39f3d9a44
X:18606174 CDKL5 C>T	X	18606174	18606174	C	T	CDKL5	c.655C>T	NM_001323289.2	NP_001310218.1:p.(Gln219Ter)	NC_000023.10:g.18606174C>T	(Likely) pathogenic	1 lab	e39fb204b4
11:47370459 MYBPC3 T>TTATA	11	47370459	47370478	T	TTATA	MYBPC3	c.655-371_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370475_47370478dup	(Likely) benign	1 lab	e3a61b33af
20:45338594 SLC2A10 C>T	20	45338594	45338594	C	T	SLC2A10	c.4+215C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45338594C>T	(Likely) benign	1 lab	e3a6dc9ea3
16:1004336 LMF1 C>T	16	1004336	1004336	C	T	LMF1	c.503+21G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004336C>T	(Likely) benign	1 lab	e3a7b26a39
19:11210921 LDLR C>G	19	11210921	11210921	C	G	LDLR	c.90C>G	NM_000527.5	NP_000518.1:p.(Asn30Lys)	NC_000019.9:g.11210921C>G	VUS	1 lab	e3a8de72e1
14:23872026 MYH6 G>A	14	23872026	23872026	G	A	MYH6	c.899-17C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872026G>A	(Likely) benign	1 lab	e3a9e12e4a
8:59407205 CYP7A1 G>A	8	59407205	59407205	G	A	CYP7A1	c.909-10C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59407205G>A	(Likely) benign	1 lab	e3ad051238
8:75274205 GDAP1 C>T	8	75274205	75274205	C	T	GDAP1	c.571C>T	NM_018972.4	NP_061845.2:p.(Arg191Ter)	NC_000008.10:g.75274205C>T	(Likely) pathogenic	1 lab	e3af3cfa7a
10:61868716 ANK3 C>A	10	61868716	61868716	C	A	ANK3	c.3045G>T	NM_020987.5	NP_066267.2:p.(Thr1015=)	NC_000010.10:g.61868716C>A	(Likely) benign	1 lab	e3af72f8e8
17:17119838 FLCN C>T	17	17119838	17119838	C	T	FLCN	c.1177-21G>A	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17119838C>T	(Likely) benign	1 lab	e3af9ffd6e
11:116702000 APOC3 C>T	11	116702000	116702000	C	T	APOC3	c.179+388C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702000C>T	(Likely) benign	1 lab	e3b1855085
17:41245906 BRCA1 T>C	17	41245906	41245906	T	C	BRCA1	c.1642A>G	NM_007294.4	NP_009225.1:p.(Ile548Val)	NC_000017.10:g.41245906T>C	(Likely) benign	1 lab	e3b3bccacb
X:129159287 BCORL1 C>T	X	129159287	129159287	C	T	BCORL1	c.4011C>T	NM_021946.5	NP_068765.3:p.(Ser1337=)	NC_000023.10:g.129159287C>T	(Likely) benign	1 lab	e3b42e2d63
1:94471747 ABCA4 A>T	1	94471747	94471747	A	T	ABCA4	c.6006-609T>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94471747A>T	VUS	1 lab	e3b64c5150
11:116708114 APOA1 C>T	11	116708114	116708114	C	T	APOA1	c.-294G>A	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116708114C>T	(Likely) benign	1 lab	e3b92acf33
21:34922205 SON C>T	21	34922205	34922205	C	T	SON	c.668C>T	NM_138927.4	NP_620305.3:p.(Ser223Leu)	NC_000021.8:g.34922205C>T	VUS	1 lab	e3bb0602d7
2:179615024 TTN C>CGGGT	2	179615024	179615025	C	CGGGT	TTN	c.11311+2826_11311+2827insACCC	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615024_179615025insGGGT	(Likely) benign	1 lab	e3c2eabc35
14:102506710 DYNC1H1 C>T	14	102506710	102506710	C	T	DYNC1H1	c.11828C>T	NM_001376.5	NP_001367.2:p.(Ala3943Val)	NC_000014.8:g.102506710C>T	VUS	1 lab	e3c43231a2
3:135398081 MISSING Ref too long to show for this DEL>A	3	135398081	137137908	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.135398084_137137908del	(Likely) pathogenic	1 lab	e3c66e0fd9
11:66334730 CTSF A>T	11	66334730	66334730	A	T	CTSF	c.594T>A	NM_003793.4	NP_003784.2:p.(Tyr198Ter)	NC_000011.9:g.66334730A>T	(Likely) pathogenic	1 lab	e3c75137c9
2:213864024 MISSING T>Alt too long to show for this DUP	2	213864024	213922773	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.213864027_213922773dup	VUS	1 lab	e3c7895c4c
1:25890295 LDLRAP1 G>A	1	25890295	25890295	G	A	LDLRAP1	c.747+13G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890295G>A	(Likely) benign	1 lab	e3cb5e1e4a
3:30721129 TGFBR2 A>G	3	30721129	30721129	A	G	TGFBR2	c.1471+5391A>G	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30721129A>G	(Likely) benign	1 lab	e3ccc62291
15:71507457 THSD4 C>T	15	71507457	71507457	C	T	THSD4	c.183C>T	NM_024817.2	NP_079093.2:p.(Pro61=)	NC_000015.9:g.71507457C>T	(Likely) benign	1 lab	e3d0d2461c
X:30872468 TAB3 A>G	X	30872468	30872468	A	G	TAB3	c.1314T>C	NM_152787.5	NP_690000.3:p.(Ser438=)	NC_000023.10:g.30872468A>G	(Likely) benign	1 lab	e3d1204c09
1:237664060 RYR2 T>G	1	237664060	237664060	T	G	RYR2	c.2253T>G	NM_001035.3	NP_001026.2:p.(Thr751=)	NC_000001.10:g.237664060T>G	(Likely) benign	1 lab	e3d1518780
2:44052099 ABCG5 G>T	2	44052099	44052099	G	T	ABCG5	c.833C>A	NM_022436.3	NP_071881.1:p.(Ala278Glu)	NC_000002.11:g.44052099G>T	VUS	1 lab	e3d22cfe77
11:116708060 APOA1 C>A	11	116708060	116708060	C	A	APOA1	c.43+1G>T	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116708060C>A	(Likely) pathogenic	1 lab	e3d2c5d5c6
10:27529279 ACBD5 G>C	10	27529279	27529279	G	C	ACBD5	c.45C>G	NM_001352579.2	NP_001339508.1:p.(Ala15=)	NC_000010.10:g.27529279G>C	(Likely) benign	1 lab	e3d36e0089
15:28518136 HERC2 G>A	15	28518136	28518136	G	A	HERC2	c.815C>T	NM_004667.6	NP_004658.3:p.(Thr272Met)	NC_000015.9:g.28518136G>A	(Likely) benign	1 lab	e3d3e7f772
5:176684229 NSD1 CTT>C	5	176684229	176684248	CTT	C	NSD1	c.4966+95_4966+96del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176684247_176684248del	(Likely) benign	1 lab	e3d528a596
15:73660318 HCN4 C>T	15	73660318	73660318	C	T	HCN4	c.294G>A	NM_005477.3	NP_005468.1:p.(Gly98=)	NC_000015.9:g.73660318C>T	(Likely) benign	1 lab	e3d8139630
X:70469365 ZMYM3 G>A	X	70469365	70469365	G	A	ZMYM3	c.1416C>T	NM_001171162.1	NP_001164633.1:p.(His472=)	NC_000023.10:g.70469365G>A	(Likely) benign	1 lab	e3da3c2a00
4:6303988 WFS1 C>A	4	6303988	6303988	C	A	WFS1	c.2466C>A	NM_006005.3	NP_005996.2:p.(Leu822=)	NC_000004.11:g.6303988C>A	(Likely) benign	1 lab	e3dcd90687
12:111348949 MYL2 CA>C	12	111348949	111348950	CA	C	MYL2	c.432del	NM_000432.4	NP_000423.2:p.(Asp145ThrfsTer2)	NC_000012.11:g.111348950del	(Likely) pathogenic	1 lab	e3dfbf24f5
11:75508258 DGAT2 T>C	11	75508258	75508258	T	C	DGAT2	c.690T>C	NM_032564.5	NP_115953.2:p.(Ser230=)	NC_000011.9:g.75508258T>C	(Likely) benign	1 lab	e3e08f7bc9
18:10691216 PIEZO2 G>A	18	10691216	10691216	G	A	PIEZO2	c.7010+7C>T	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10691216G>A	(Likely) benign	1 lab	e3e1a5b79e
16:67973953 LCAT G>A	16	67973953	67973953	G	A	LCAT	c.1177C>T	NM_000229.2	NP_000220.1:p.(Leu393=)	NC_000016.9:g.67973953G>A	(Likely) benign	1 lab	e3e4ad4e61
6:110112758 FIG4 G>A	6	110112758	110112758	G	A	FIG4	c.2360G>A	NM_014845.6	NP_055660.1:p.(Ser787Asn)	NC_000006.11:g.110112758G>A	VUS	1 lab	e3e4b9d800
2:25972836 ASXL2 C>A	2	25972836	25972836	C	A	ASXL2	c.1589G>T	NM_018263.6	NP_060733.4:p.(Ser530Ile)	NC_000002.11:g.25972836C>A	VUS	1 lab	e3e6754389
X:77244170 ATP7A T>C	X	77244170	77244170	T	C	ATP7A	c.553T>C	NM_000052.7	NP_000043.4:p.(Cys185Arg)	NC_000023.10:g.77244170T>C	VUS	1 lab	e3e72cd743
X:76789040 ATRX A>Alt too long to show for this DUP	X	76789040	76791045	A	Alt too long to show for this DUP	ATRX	c.6700-12164_6700-10162dup	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76789043_76791045dup	VUS	1 lab	e3e76c2f64
20:2843979 VPS16 G>T	20	2843979	2843979	G	T	VPS16	c.1411G>T	NM_022575.4	NP_072097.2:p.(Glu471Ter)	NC_000020.10:g.2843979G>T	(Likely) pathogenic	1 lab	e3e88cf714
8:19811706 LPL T>C	8	19811706	19811706	T	C	LPL	c.617T>C	NM_000237.3	NP_000228.1:p.(Val206Ala)	NC_000008.10:g.19811706T>C	(Likely) pathogenic	1 lab	e3e9dcaf80
10:78299482 MISSING Ref too long to show for this DEL>G	10	78299482	78367929	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.78299483_78367929del	VUS	1 lab	e3e9f51edc
11:117265727 CEP164 A>G	11	117265727	117265727	A	G	CEP164	c.2844+8A>G	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117265727A>G	(Likely) benign	1 lab	e3ebbb30ff
20:57598848 TUBB1 C>T	20	57598848	57598848	C	T	TUBB1	c.366C>T	NM_030773.4	NP_110400.1:p.(His122=)	NC_000020.10:g.57598848C>T	(Likely) benign	1 lab	e3ef95e67f
X:85166221 CHM A>AATATATATATATATATATATGAATAT	X	85166221	85166245	A	AATATATATATATATATATATGAATAT	CHM	c.800+44_800+45insATATTCATATATATATATATATATAT	NM_001362517.1	NP_001349446.1:p.?	NC_000023.10:g.85166244_85166245insTATATATATATATATATATATATGAA	(Likely) benign	1 lab	e3eff25d5e
15:58853050 LIPC T>C	15	58853050	58853050	T	C	LIPC	c.1052-13T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853050T>C	(Likely) benign	1 lab	e3f0bbd925
6:90174325 ANKRD6 Ref too long to show for this DEL>T	6	90174325	90276617	Ref too long to show for this DEL	T	ANKRD6	c.-144+31232_-79del	NM_001242809.2	NP_001229738.1:p.?	NC_000006.11:g.90174326_90276617del	VUS	1 lab	e3f2f68466
7:103276913 RELN C>T	7	103276913	103276913	C	T	RELN	c.2072G>A	NM_005045.4	NP_005036.2:p.(Cys691Tyr)	NC_000007.13:g.103276913C>T	VUS	1 lab	e3f746d808
16:15889541 MYH11 Ref too long to show for this DEL>A	16	15889541	15902159	Ref too long to show for this DEL	A	MYH11	c.503-9614_530+2975del	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15889543_15902159del	VUS	1 lab	e3f9a83181
11:108183236 ATM G>C	11	108183236	108183236	G	C	ATM	c.6006+11G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108183236G>C	(Likely) benign	1 lab	e3fe5e5b5b
19:11216225 LDLR C>T	19	11216225	11216225	C	T	LDLR	c.643C>T	NM_000527.5	NP_000518.1:p.(Arg215Cys)	NC_000019.9:g.11216225C>T	(Likely) pathogenic	1 lab	e3fe8a0944
2:26951449 KCNK3 G>A	2	26951449	26951449	G	A	KCNK3	c.*13G>A	NM_002246.3	NP_002237.1:p.?	NC_000002.11:g.26951449G>A	(Likely) benign	1 lab	e402075ff5
9:107589277 ABCA1 C>A	9	107589277	107589277	C	A	ABCA1	c.2289G>T	NM_005502.4	NP_005493.2:p.(Leu763=)	NC_000009.11:g.107589277C>A	(Likely) benign	1 lab	e4023e2ae9
4:123260475 BLTP1 G>A	4	123260475	123260475	G	A	BLTP1	c.12264G>A	NM_015312.4	NP_056127.2:p.(Gly4088=)	NC_000004.11:g.123260475G>A	(Likely) benign	1 lab	e404896ac2
2:179543146 TTN G>T	2	179543146	179543146	G	T	TTN	c.33905C>A	NM_001267550.2	NP_001254479.2:p.(Ala11302Glu)	NC_000002.11:g.179543146G>T	VUS	1 lab	e4055364bf
13:96412492 DNAJC3 C>T	13	96412492	96412492	C	T	DNAJC3	c.728+17C>T	NM_006260.5	NP_006251.1:p.?	NC_000013.10:g.96412492C>T	(Likely) benign	1 lab	e4093c2036
6:82461785 TENT5A C>T	6	82461785	82461785	C	T	TENT5A	c.74G>A	NM_017633.3	NP_060103.2:p.(Gly25Asp)	NC_000006.11:g.82461785C>T	(Likely) benign	1 lab	e40bbaaf52
1:74737274 FPGT-TNNI3K C>T	1	74737274	74737274	C	T	FPGT-TNNI3K	c.637-8C>T	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74737274C>T	(Likely) benign	1 lab	e40cc8e9b5
11:117233212 MISSING A>Alt too long to show for this DUP	11	117233212	117508447	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117233213_117508447dup	VUS	1 lab	e413898a9d
22:29121347 CHEK2 TCA>T	22	29121347	29121353	TCA	T	CHEK2	c.326_327del	NM_007194.4	NP_009125.1:p.(Val109GlufsTer2)	NC_000022.10:g.29121352_29121353del	(Likely) pathogenic	1 lab	e4142cc4ff
18:47108864 LIPG G>A	18	47108864	47108864	G	A	LIPG	c.1157+12G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108864G>A	(Likely) benign	1 lab	e4195f3585
14:60977883 SIX6 C>T	14	60977883	60977883	C	T	SIX6	c.654C>T	NM_007374.3	NP_031400.2:p.(Val218=)	NC_000014.8:g.60977883C>T	(Likely) benign	1 lab	e41c670fad
2:179405044 TTN C>A	2	179405044	179405044	C	A	TTN	c.97849G>T	NM_001267550.2	NP_001254479.2:p.(Val32617Phe)	NC_000002.11:g.179405044C>A	VUS	1 lab	e41d1329bc
12:50502304 GPD1 G>A	12	50502304	50502304	G	A	GPD1	c.953+391G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502304G>A	(Likely) benign	1 lab	e4235cab9b
7:94214656 MISSING G>Alt too long to show for this DUP	7	94214656	94592615	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.94214660_94592615dup	VUS	1 lab	e428d123b9
8:19813396 LPL C>T	8	19813396	19813396	C	T	LPL	c.820C>T	NM_000237.3	NP_000228.1:p.(Leu274Phe)	NC_000008.10:g.19813396C>T	VUS	1 lab	e42dd032ee
17:48267388 COL1A1 C>T	17	48267388	48267388	C	T	COL1A1	c.2533G>A	NM_000088.4	NP_000079.2:p.(Gly845Arg)	NC_000017.10:g.48267388C>T	(Likely) pathogenic	1 lab	e42df50a72
21:45751752 CFAP410 G>A	21	45751752	45751752	G	A	CFAP410	c.519C>T	NM_001271441.2	NP_001258370.1:p.(Asp173=)	NC_000021.8:g.45751752G>A	(Likely) benign	1 lab	e42e9f90ca
8:144296352 GPIHBP1 C>T	8	144296352	144296352	C	T	GPIHBP1	c.181+527C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296352C>T	(Likely) benign	1 lab	e42ffc560b
19:7623743 PNPLA6 C>A	19	7623743	7623743	C	A	PNPLA6	c.3435C>A	NM_001166111.2	NP_001159583.1:p.(Ile1145=)	NC_000019.9:g.7623743C>A	(Likely) benign	1 lab	e43048d5ff
19:19672557 MISSING Ref too long to show for this DEL>T	19	19672557	19869682	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.19672559_19869682del	VUS	1 lab	e4306678c7
18:52896251 TCF4 C>T	18	52896251	52896251	C	T	TCF4	c.1706G>A	NM_001083962.2	NP_001077431.1:p.(Arg569Gln)	NC_000018.9:g.52896251C>T	(Likely) pathogenic	1 lab	e431739c7d
11:18318462 HPS5 CA>C	11	18318462	18318463	CA	C	HPS5	c.1392del	NM_181507.2	NP_852608.1:p.(Asp464GlufsTer48)	NC_000011.9:g.18318463del	(Likely) pathogenic	1 lab	e4317efcef
6:56484060 DST T>G	6	56484060	56484060	T	G	DST	c.4772A>C	NM_001723.7	NP_001714.1:p.(Gln1591Pro)	NC_000006.11:g.56484060T>G	VUS	1 lab	e43410fffc
15:48707772 FBN1 A>G	15	48707772	48707772	A	G	FBN1	c.8012T>C	NM_000138.5	NP_000129.3:p.(Leu2671Pro)	NC_000015.9:g.48707772A>G	(Likely) pathogenic	1 lab	e435179e37
15:58855212 LIPC C>T	15	58855212	58855212	C	T	LIPC	c.1170-492C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855212C>T	(Likely) benign	1 lab	e441583eee
15:28518135 HERC2 C>T	15	28518135	28518135	C	T	HERC2	c.816G>A	NM_004667.6	NP_004658.3:p.(Thr272=)	NC_000015.9:g.28518135C>T	(Likely) benign	1 lab	e443bed140
1:74954949 TNNI3K C>T	1	74954949	74954949	C	T	TNNI3K	c.2181+17C>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74954949C>T	(Likely) benign	1 lab	e449480d31
6:32010625 TNXB G>C	6	32010625	32010625	G	C	TNXB	c.11920-17C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010625G>C	(Likely) benign	1 lab	e449d8d104
16:81391489 GAN T>G	16	81391489	81391489	T	G	GAN	c.926T>G	NM_022041.4	NP_071324.1:p.(Leu309Arg)	NC_000016.9:g.81391489T>G	(Likely) pathogenic	1 lab	e44b901b2a
19:50139119 RRAS G>C	19	50139119	50139119	G	C	RRAS	c.454-10C>G	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50139119G>C	(Likely) benign	1 lab	e44c59a698
6:64472476 EYS G>A	6	64472476	64472476	G	A	EYS	c.7949C>T	NM_001292009.2	NP_001278938.1:p.(Ser2650Phe)	NC_000006.11:g.64472476G>A	VUS	1 lab	e44d48fbe7
14:105419298 AHNAK2 G>A	14	105419298	105419298	G	A	AHNAK2	c.2490C>T	NM_138420.4	NP_612429.2:p.(Asp830=)	NC_000014.8:g.105419298G>A	(Likely) benign	1 lab	e44d7d73ef
2:73800261 ALMS1 A>G	2	73800261	73800261	A	G	ALMS1	c.11260A>G	NM_015120.4	NP_055935.4:p.(Ile3754Val)	NC_000002.11:g.73800261A>G	(Likely) benign	1 lab	e4509b7825
1:44680008 MISSING Ref too long to show for this DEL>G	1	44680008	44686395	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.44680009_44686395del	VUS	1 lab	e457b0401b
7:157079253 MISSING Ref too long to show for this DEL>A	7	157079253	159128663	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.157079254_159128663del	(Likely) pathogenic	1 lab	e457c5d72c
2:241700215 KIF1A G>A	2	241700215	241700215	G	A	KIF1A	c.2311C>T	NM_001244008.2	NP_001230937.1:p.(Leu771=)	NC_000002.11:g.241700215G>A	(Likely) benign	1 lab	e457f972d5
8:1844586 ARHGEF10 A>G	8	1844586	1844586	A	G	ARHGEF10	c.1603A>G	NM_001308153.2	NP_001295082.1:p.(Thr535Ala)	NC_000008.10:g.1844586A>G	VUS	1 lab	e45b447dbc
1:237060296 MTR C>A	1	237060296	237060296	C	A	MTR	c.3599-10C>A	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060296C>A	(Likely) benign	1 lab	e5002d7eae
11:47354632 MYBPC3 G>A	11	47354632	47354632	G	A	MYBPC3	c.3331-108C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354632G>A	(Likely) benign	1 lab	e46288fdbb
16:56997551 CETP C>T	16	56997551	56997551	C	T	CETP	c.233+515C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997551C>T	(Likely) benign	1 lab	e46698c6ea
9:111658841 ELP1 A>G	9	111658841	111658841	A	G	ELP1	c.2671T>C	NM_003640.5	NP_003631.2:p.(Tyr891His)	NC_000009.11:g.111658841A>G	VUS	1 lab	e468d98d04
17:36484363 GPR179 A>C	17	36484363	36484363	A	C	GPR179	c.5089T>G	NM_001004334.4	NP_001004334.3:p.(Leu1697Val)	NC_000017.10:g.36484363A>C	(Likely) benign	1 lab	e4691d4449
15:44952684 SPG11 A>G	15	44952684	44952684	A	G	SPG11	c.388T>C	NM_025137.4	NP_079413.3:p.(Leu130=)	NC_000015.9:g.44952684A>G	(Likely) benign	1 lab	e46943d1e8
7:81626482 CACNA2D1 T>C	7	81626482	81626482	T	C	CACNA2D1	c.1662+13A>G	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81626482T>C	VUS	1 lab	e46db211da
3:148917647 CP A>G	3	148917647	148917647	A	G	CP	c.1353T>C	NM_000096.4	NP_000087.2:p.(Pro451=)	NC_000003.11:g.148917647A>G	(Likely) benign	1 lab	e46e4efb19
3:58148888 FLNB T>G	3	58148888	58148888	T	G	FLNB	c.7122T>G	NM_001164317.2	NP_001157789.1:p.(Tyr2374Ter)	NC_000003.11:g.58148888T>G	(Likely) pathogenic	1 lab	e46f07748b
1:6579110 PLEKHG5 A>G	1	6579110	6579110	A	G	PLEKHG5	c.-165+395T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6579110A>G	(Likely) benign	1 lab	e46f3cffcf
4:100503111 MTTP G>A	4	100503111	100503111	G	A	MTTP	c.111G>A	NM_000253.4	NP_000244.2:p.(Thr37=)	NC_000004.11:g.100503111G>A	(Likely) benign	1 lab	e474f302a7
15:60933938 RORA Ref too long to show for this DEL>T	15	60933938	60951444	Ref too long to show for this DEL	T	RORA	c.196+19412_196+36917del	NM_134261.3	NP_599023.1:p.?	NC_000015.9:g.60933939_60951444del	VUS	1 lab	e4760a7e2c
9:95481121 BICD2 C>T	9	95481121	95481121	C	T	BICD2	c.1806G>A	NM_001003800.2	NP_001003800.1:p.(Thr602=)	NC_000009.11:g.95481121C>T	(Likely) benign	1 lab	e47af6a558
X:8595818 ANOS1 C>Alt too long to show for this DUP	X	8595818	8702123	C	Alt too long to show for this DUP	ANOS1				NC_000023.10:g.8595820_8702123dup	VUS	1 lab	e47b72d261
1:46661717 POMGNT1 C>T	1	46661717	46661717	C	T	POMGNT1	c.387G>A	NM_001243766.2	NP_001230695.2:p.(Arg129=)	NC_000001.10:g.46661717C>T	(Likely) benign	1 lab	e47c5738cb
1:63067507 ANGPTL3 A>T	1	63067507	63067507	A	T	ANGPTL3	c.789A>T	NM_014495.4	NP_055310.1:p.(Arg263Ser)	NC_000001.10:g.63067507A>T	(Likely) benign	1 lab	e47c663480
15:43824126 PPIP5K1 A>Alt too long to show for this DUP	15	43824126	43840253	A	Alt too long to show for this DUP	PPIP5K1				NC_000015.9:g.43824130_43840253dup	VUS	1 lab	e48030260d
X:70443301 GJB1 C>T	X	70443301	70443301	C	T	GJB1	c.-17+116C>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443301C>T	(Likely) benign	1 lab	e4832baec0
6:158312010 MISSING T>Alt too long to show for this DUP	6	158312010	158377359	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.158312012_158377359dup	VUS	1 lab	e4845bf219
19:11213423 LDLR C>G	19	11213423	11213423	C	G	LDLR	c.274C>G	NM_000527.5	NP_000518.1:p.(Gln92Glu)	NC_000019.9:g.11213423C>G	(Likely) benign	1 lab	e487110cad
15:48779569 FBN1 T>C	15	48779569	48779569	T	C	FBN1	c.3403A>G	NM_000138.5	NP_000129.3:p.(Ser1135Gly)	NC_000015.9:g.48779569T>C	VUS	1 lab	e4894a32e0
10:5917356 MISSING G>Alt too long to show for this DUP	10	5917356	6231793	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.5917357_6231793dup	VUS	1 lab	e515104995
2:179433317 TTN C>T	2	179433317	179433317	C	T	TTN	c.77542G>A	NM_001267550.2	NP_001254479.2:p.(Asp25848Asn)	NC_000002.11:g.179433317C>T	VUS	1 lab	e48ac6fe15
2:179566770 TTN G>A	2	179566770	179566770	G	A	TTN	c.30535C>T	NM_001267550.2	NP_001254479.2:p.(Pro10179Ser)	NC_000002.11:g.179566770G>A	VUS	1 lab	e48ae0ceb0
1:11907179 NPPA G>A	1	11907179	11907179	G	A	NPPA	c.441C>T	NM_006172.4	NP_006163.1:p.(Asn147=)	NC_000001.10:g.11907179G>A	(Likely) benign	1 lab	e48eafeb35
12:21329779 SLCO1B1 A>G	12	21329779	21329779	A	G	SLCO1B1	c.429A>G	NM_006446.5	NP_006437.3:p.(Leu143=)	NC_000012.11:g.21329779A>G	(Likely) benign	1 lab	e4918483bb
18:27661734 MISSING Ref too long to show for this DEL>T	18	27661734	28900577	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.27661735_28900577del	(Likely) pathogenic	1 lab	e493e346ff
7:91631234 AKAP9 A>C	7	91631234	91631234	A	C	AKAP9	c.2003A>C	NM_005751.5	NP_005742.4:p.(Asp668Ala)	NC_000007.13:g.91631234A>C	VUS	1 lab	e4980c55dd
3:49698695 BSN T>C	3	49698695	49698695	T	C	BSN	c.9417T>C	NM_003458.4	NP_003449.2:p.(Arg3139=)	NC_000003.11:g.49698695T>C	(Likely) benign	1 lab	e499fbdcf8
10:68040289 CTNNA3 T>A	10	68040289	68040289	T	A	CTNNA3	c.1823A>T	NM_013266.4	NP_037398.2:p.(Asp608Val)	NC_000010.10:g.68040289T>A	VUS	1 lab	e49b88463e
22:21337308 LZTR1 C>T	22	21337308	21337308	C	T	LZTR1	c.201-8C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21337308C>T	(Likely) benign	1 lab	e49ca88918
16:49671895 ZNF423 G>A	16	49671895	49671895	G	A	ZNF423	c.988C>T	NM_001271620.2	NP_001258549.1:p.(Pro330Ser)	NC_000016.9:g.49671895G>A	VUS	1 lab	e49dc6f5f6
4:126240894 FAT4 G>A	4	126240894	126240894	G	A	FAT4	c.3328G>A	NM_001291303.3	NP_001278232.1:p.(Glu1110Lys)	NC_000004.11:g.126240894G>A	VUS	1 lab	e49e55431c
16:88503199 ZNF469 G>A	16	88503199	88503199	G	A	ZNF469	c.9321G>A	NM_001367624.2	NP_001354553.1:p.(Pro3107=)	NC_000016.9:g.88503199G>A	(Likely) benign	1 lab	e4a480d6bd
X:100490933 DRP2 G>C	X	100490933	100490933	G	C	DRP2	c.202G>C	NM_001939.3	NP_001930.2:p.(Val68Leu)	NC_000023.10:g.100490933G>C	(Likely) benign	1 lab	e4a5358bc5
12:65110582 GNS C>T	12	65110582	65110582	C	T	GNS	c.1598G>A	NM_002076.4	NP_002067.1:p.(Arg533His)	NC_000012.11:g.65110582C>T	(Likely) benign	1 lab	e4a5f2e5f7
6:72806844 RIMS1 C>T	6	72806844	72806844	C	T	RIMS1	c.438C>T	NM_014989.6	NP_055804.2:p.(Arg146=)	NC_000006.11:g.72806844C>T	(Likely) benign	1 lab	e4a6c7c1f3
16:15851926 MYH11 G>A	16	15851926	15851926	G	A	MYH11	c.1402-69C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15851926G>A	(Likely) benign	1 lab	e4a6f7824d
X:148059515 AFF2 A>C	X	148059515	148059515	A	C	AFF2	c.3457A>C	NM_002025.4	NP_002016.2:p.(Lys1153Gln)	NC_000023.10:g.148059515A>C	(Likely) benign	1 lab	e4a972c7b0
3:121526302 IQCB1 GA>G	3	121526302	121526311	GA	G	IQCB1	c.488-13del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121526311del	(Likely) benign	1 lab	e4af3f49e7
3:38627009 SCN5A G>C	3	38627009	38627009	G	C	SCN5A	c.2787+173C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627009G>C	(Likely) benign	1 lab	e4af52cfea
3:129249765 RHO C>T	3	129249765	129249765	C	T	RHO	c.408C>T	NM_000539.3	NP_000530.1:p.(Tyr136=)	NC_000003.11:g.129249765C>T	(Likely) benign	1 lab	e4afe58234
7:92138650 PEX1 A>G	7	92138650	92138650	A	G	PEX1	c.1039T>C	NM_001282678.2	NP_001269607.1:p.(Ser347Pro)	NC_000007.13:g.92138650A>G	VUS	1 lab	e4affc0e9a
1:16912138 NBPF1 A>G	1	16912138	16912138	A	G	NBPF1	c.834T>C	NM_017940.6	NP_060410.3:p.(Pro278=)	NC_000001.10:g.16912138A>G	(Likely) benign	1 lab	e4affff8ee
22:50901031 SBF1 C>T	22	50901031	50901031	C	T	SBF1	c.2084G>A	NM_002972.4	NP_002963.2:p.(Arg695Gln)	NC_000022.10:g.50901031C>T	VUS	1 lab	e4b34fd86b
6:52078765 MISSING Ref too long to show for this DEL>T	6	52078765	52677893	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.52078767_52677893del	VUS	1 lab	e4b4321c10
11:88337925 GRM5 T>A	11	88337925	88337925	T	A	GRM5	c.1355A>T	NM_000842.5	NP_000833.1:p.(Asp452Val)	NC_000011.9:g.88337925T>A	VUS	1 lab	e4b74a508c
1:55522558 PCSK9 G>T	1	55522558	55522558	G	T	PCSK9	c.997-446G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522558G>T	(Likely) benign	1 lab	e4b8acdce7
19:16593388 CALR3 C>A	19	16593388	16593388	C	A	CALR3	c.791G>T	NM_145046.5	NP_659483.2:p.(Gly264Val)	NC_000019.9:g.16593388C>A	VUS	1 lab	e4ba2800b5
19:15296390 NOTCH3 C>T	19	15296390	15296390	C	T	NOTCH3	c.2052G>A	NM_000435.3	NP_000426.2:p.(Pro684=)	NC_000019.9:g.15296390C>T	(Likely) benign	1 lab	e4bcbfa579
2:220313134 SPEG C>T	2	220313134	220313134	C	T	SPEG	c.1254C>T	NM_005876.5	NP_005867.3:p.(Asp418=)	NC_000002.11:g.220313134C>T	(Likely) benign	1 lab	e4bcf8c9c1
16:943130 LMF1 C>G	16	943130	943130	C	G	LMF1	c.265-58G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943130C>G	(Likely) benign	1 lab	e4be507f7f
6:110942294 CDK19 A>C	6	110942294	110942294	A	C	CDK19	c.1377+13T>G	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110942294A>C	(Likely) benign	1 lab	e4c2790713
3:189713065 P3H2 C>G	3	189713065	189713065	C	G	P3H2	c.633+14G>C	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189713065C>G	(Likely) benign	1 lab	e4c34c31e6
X:100656731 GLA G>A	X	100656731	100656731	G	A	GLA	c.436C>T	NM_000169.3	NP_000160.1:p.(Pro146Ser)	NC_000023.10:g.100656731G>A	(Likely) pathogenic	1 lab	e4c431f09d
8:144297020 GPIHBP1 G>A	8	144297020	144297020	G	A	GPIHBP1	c.295+19G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297020G>A	(Likely) benign	1 lab	e4cf7fbaed
2:21229116 APOB A>G	2	21229116	21229116	A	G	APOB	c.10624T>C	NM_000384.3	NP_000375.3:p.(Trp3542Arg)	NC_000002.11:g.21229116A>G	VUS	1 lab	e4d26f5e40
2:21225121 APOB T>G	2	21225121	21225121	T	G	APOB	c.13173A>C	NM_000384.3	NP_000375.3:p.(Pro4391=)	NC_000002.11:g.21225121T>G	(Likely) benign	1 lab	e4d6ea364d
3:47452035 PTPN23 A>G	3	47452035	47452035	A	G	PTPN23	c.2747A>G	NM_015466.4	NP_056281.1:p.(Gln916Arg)	NC_000003.11:g.47452035A>G	VUS	1 lab	e4d71def69
17:45299044 MYL4 G>A	17	45299044	45299044	G	A	MYL4	c.314-4G>A	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45299044G>A	(Likely) benign	1 lab	e4d7f84be3
11:33880896 LMO2 T>A	11	33880896	33880896	T	A	LMO2	c.*6A>T	NM_005574.4	NP_005565.2:p.?	NC_000011.9:g.33880896T>A	(Likely) benign	1 lab	e4d97aa2e2
2:25736045 DTNB Ref too long to show for this DEL>T	2	25736045	25819091	Ref too long to show for this DEL	T	DTNB	c.469_1001+18296del	NM_021907.5	NP_068707.1:p.?	NC_000002.11:g.25736048_25819091del	(Likely) pathogenic	1 lab	e4dbbaadb6
X:122846717 THOC2 T>C	X	122846717	122846717	T	C	THOC2	c.113A>G	NM_001081550.2	NP_001075019.1:p.(Asp38Gly)	NC_000023.10:g.122846717T>C	VUS	1 lab	e4dbd8229b
16:88501386 ZNF469 C>A	16	88501386	88501386	C	A	ZNF469	c.7508C>A	NM_001367624.2	NP_001354553.1:p.(Ala2503Glu)	NC_000016.9:g.88501386C>A	(Likely) benign	1 lab	e4dc10c8aa
6:56366410 DST T>C	6	56366410	56366410	T	C	DST	c.13291A>G	NM_001144769.5	NP_001138241.1:p.(Thr4431Ala)	NC_000006.11:g.56366410T>C	(Likely) benign	1 lab	e4dd2b255a
10:112544785 RBM20 C>T	10	112544785	112544785	C	T	RBM20	c.1527+138C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112544785C>T	(Likely) benign	1 lab	e4dd308504
15:73622013 HCN4 G>A	15	73622013	73622013	G	A	HCN4	c.1491C>T	NM_005477.3	NP_005468.1:p.(Leu497=)	NC_000015.9:g.73622013G>A	(Likely) benign	1 lab	e4dd4e9daf
6:70411439 LMBRD1 T>TA	6	70411439	70411447	T	TA	LMBRD1	c.981-3dup	NM_018368.4	NP_060838.3:p.?	NC_000006.11:g.70411447dup	(Likely) benign	1 lab	e4dfe9924f
10:55617026 PCDH15 G>C	10	55617026	55617026	G	C	PCDH15	c.3733-3C>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55617026G>C	VUS	1 lab	e4e2cfcd09
7:44150504 AEBP1 C>G	7	44150504	44150504	C	G	AEBP1	c.1486-8C>G	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44150504C>G	(Likely) benign	1 lab	e522cef8fd
2:196728897 DNAH7 G>A	2	196728897	196728897	G	A	DNAH7	c.7482C>T	NM_018897.3	NP_061720.2:p.(Asn2494=)	NC_000002.11:g.196728897G>A	(Likely) benign	1 lab	e4e34aa643
1:173873046 MISSING Ref too long to show for this DEL>G	1	173873046	174087941	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.173873048_174087941del	VUS	1 lab	e4e3efa437
X:153642476 TAFAZZIN G>A	X	153642476	153642476	G	A	TAFAZZIN	c.409G>A	NM_000116.5	NP_000107.1:p.(Val137Ile)	NC_000023.10:g.153642476G>A	VUS	1 lab	e4e4375b82
8:146035851 MISSING A>Alt too long to show for this DUP	8	146035851	146128580	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.146035852_146128580dup	VUS	1 lab	e4e5b5a61a
19:49635899 MISSING A>Alt too long to show for this DUP	19	49635899	49675352	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.49635900_49675352dup	VUS	1 lab	e4e5b78e2b
15:73614939 HCN4 C>T	15	73614939	73614939	C	T	HCN4	c.3495G>A	NM_005477.3	NP_005468.1:p.(Leu1165=)	NC_000015.9:g.73614939C>T	(Likely) benign	1 lab	e4e650eccc
3:53769385 CACNA1D C>T	3	53769385	53769385	C	T	CACNA1D	c.2682-16C>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53769385C>T	(Likely) benign	1 lab	e4ead2f6ac
1:236897635 ACTN2 G>T	1	236897635	236897635	G	T	ACTN2	c.698-1300G>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897635G>T	(Likely) benign	1 lab	e4eeef5193
10:73572303 CDH23 G>T	10	73572303	73572303	G	T	CDH23	c.9447G>T	NM_022124.6	NP_071407.4:p.(Glu3149Asp)	NC_000010.10:g.73572303G>T	VUS	1 lab	e4f4250921
2:179403247 TTN G>A	2	179403247	179403247	G	A	TTN	c.99289+20C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179403247G>A	(Likely) benign	1 lab	e4f42b25a9
9:136218903 SURF1 G>A	9	136218903	136218903	G	A	SURF1	c.833+13C>T	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136218903G>A	(Likely) benign	1 lab	e4f44cbb3c
X:32834669 DMD C>T	X	32834669	32834669	C	T	DMD	c.446G>A	NM_004006.3	NP_003997.2:p.(Arg149His)	NC_000023.10:g.32834669C>T	VUS	1 lab	e4f56c4553
2:21233706 APOB G>A	2	21233706	21233706	G	A	APOB	c.6034C>T	NM_000384.3	NP_000375.3:p.(Arg2012Ter)	NC_000002.11:g.21233706G>A	(Likely) pathogenic	1 lab	e4f7114e2d
11:103116103 DYNC2H1 G>A	11	103116103	103116103	G	A	DYNC2H1	c.10042G>A	NM_001377.3	NP_001368.2:p.(Gly3348Arg)	NC_000011.9:g.103116103G>A	(Likely) pathogenic	1 lab	e4f9a13ce6
9:119460791 ASTN2 C>G	9	119460791	119460791	C	G	ASTN2	c.2653+27259G>C	NM_014010.5	NP_054729.3:p.?	NC_000009.11:g.119460791C>G	(Likely) benign	1 lab	e4fa5c16b2
19:11216138 LDLR G>C	19	11216138	11216138	G	C	LDLR	c.556G>C	NM_000527.5	NP_000518.1:p.(Gly186Arg)	NC_000019.9:g.11216138G>C	VUS	1 lab	e4fb329d01
16:57017528 CETP T>C	16	57017528	57017528	T	C	CETP	c.1432T>C	NM_000078.3	NP_000069.2:p.(Phe478Leu)	NC_000016.9:g.57017528T>C	(Likely) pathogenic	1 lab	e4fb90dae9
9:33797987 PRSS3 G>T	9	33797987	33797987	G	T	PRSS3	c.403G>T	NM_001197097.3	NP_001184026.3:p.(Ala135Ser)	NC_000009.11:g.33797987G>T	(Likely) benign	1 lab	e4fc0eff11
14:75276118 YLPM1 C>A	14	75276118	75276118	C	A	YLPM1	c.4557C>A	NM_019589.3	NP_062535.2:p.(Gly1519=)	NC_000014.8:g.75276118C>A	(Likely) benign	1 lab	e5020d18f0
1:156834547 NTRK1 C>T	1	156834547	156834547	C	T	NTRK1	c.315C>T	NM_002529.4	NP_002520.2:p.(Phe105=)	NC_000001.10:g.156834547C>T	(Likely) benign	1 lab	e503e14f94
2:179455595 TTN T>C	2	179455595	179455595	T	C	TTN	c.60857A>G	NM_001267550.2	NP_001254479.2:p.(Asn20286Ser)	NC_000002.11:g.179455595T>C	VUS	1 lab	e504d2fce0
7:91708737 AKAP9 A>T	7	91708737	91708737	A	T	AKAP9	c.7290A>T	NM_005751.5	NP_005742.4:p.(Leu2430Phe)	NC_000007.13:g.91708737A>T	VUS	1 lab	e506063c4e
2:179417277 TTN A>G	2	179417277	179417277	A	G	TTN	c.90350T>C	NM_001267550.2	NP_001254479.2:p.(Ile30117Thr)	NC_000002.11:g.179417277A>G	VUS	1 lab	e50776f55b
22:38511570 PLA2G6 G>A	22	38511570	38511570	G	A	PLA2G6	c.1464C>T	NM_001349867.2	NP_001336796.1:p.(Thr488=)	NC_000022.10:g.38511570G>A	(Likely) benign	1 lab	e509893109
3:53835202 CACNA1D C>T	3	53835202	53835202	C	T	CACNA1D	c.5158C>T	NM_001128840.3	NP_001122312.1:p.(Pro1720Ser)	NC_000003.11:g.53835202C>T	VUS	1 lab	e50c414d4c
17:79892247 PYCR1 C>T	17	79892247	79892247	C	T	PYCR1	c.752G>A	NM_006907.4	NP_008838.2:p.(Arg251His)	NC_000017.10:g.79892247C>T	(Likely) pathogenic	1 lab	e50ff76c5f
21:44484030 CBS C>T	21	44484030	44484030	C	T	CBS	c.808G>A	NM_000071.3	NP_000062.1:p.(Glu270Lys)	NC_000021.8:g.44484030C>T	VUS	1 lab	e513636a49
2:179556753 TTN A>G	2	179556753	179556753	A	G	TTN	c.31752T>C	NM_001267550.2	NP_001254479.2:p.(Ala10584=)	NC_000002.11:g.179556753A>G	(Likely) benign	1 lab	e514b5a3dc
2:179444031 TTN C>T	2	179444031	179444031	C	T	TTN	c.67726G>A	NM_001267550.2	NP_001254479.2:p.(Gly22576Ser)	NC_000002.11:g.179444031C>T	VUS	1 lab	e51696f865
5:169145704 DOCK2 A>C	5	169145704	169145704	A	C	DOCK2	c.2176A>C	NM_004946.3	NP_004937.1:p.(Arg726=)	NC_000005.9:g.169145704A>C	(Likely) benign	1 lab	e5175e5b1b
15:73615287 HCN4 G>A	15	73615287	73615287	G	A	HCN4	c.3147C>T	NM_005477.3	NP_005468.1:p.(His1049=)	NC_000015.9:g.73615287G>A	(Likely) benign	1 lab	e517837f41
2:44099351 ABCG8 C>T	2	44099351	44099351	C	T	ABCG8	c.1128-11C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099351C>T	(Likely) benign	1 lab	e519903385
1:161332091 SDHC C>CT	1	161332091	161332105	C	CT	SDHC	c.406-14dup	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332105dup	(Likely) benign	1 lab	e51aee33e2
19:11233939 LDLR C>T	19	11233939	11233939	C	T	LDLR	c.2230C>T	NM_000527.5	NP_000518.1:p.(Arg744Ter)	NC_000019.9:g.11233939C>T	(Likely) pathogenic	1 lab	e521577358
1:196684731 CFH G>T	1	196684731	196684731	G	T	CFH	c.1528G>T	NM_000186.4	NP_000177.2:p.(Asp510Tyr)	NC_000001.10:g.196684731G>T	(Likely) benign	1 lab	e522805f98
2:179467022 TTN G>A	2	179467022	179467022	G	A	TTN	c.55107C>T	NM_001267550.2	NP_001254479.2:p.(Ala18369=)	NC_000002.11:g.179467022G>A	(Likely) benign	1 lab	e5242acebf
5:10261728 CCT5 C>T	5	10261728	10261728	C	T	CCT5	c.885C>T	NM_001306154.2	NP_001293083.1:p.(Ala295=)	NC_000005.9:g.10261728C>T	(Likely) benign	1 lab	e524a55b4d
9:107584351 ABCA1 T>C	9	107584351	107584351	T	C	ABCA1	c.2828+426A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107584351T>C	(Likely) benign	1 lab	e528d9891a
9:117266891 WHRN G>T	9	117266891	117266891	G	T	WHRN	c.191C>A	NM_015404.4	NP_056219.3:p.(Ala64Asp)	NC_000009.11:g.117266891G>T	VUS	1 lab	e52c237362
5:127744315 FBN2 T>C	5	127744315	127744315	T	C	FBN2	c.1078+52A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127744315T>C	(Likely) benign	1 lab	e52c523de2
2:151326512 MISSING Ref too long to show for this DEL>T	2	151326512	151349510	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.151326513_151349510del	VUS	1 lab	e52cfa4d84
16:2131755 TSC2 C>T	16	2131755	2131755	C	T	TSC2	c.3770C>T	NM_000548.5	NP_000539.2:p.(Ala1257Val)	NC_000016.9:g.2131755C>T	(Likely) benign	1 lab	e52e8ed2c2
7:751026 PRKAR1B G>A	7	751026	751026	G	A	PRKAR1B	c.117C>T	NM_001164761.2	NP_001158233.1:p.(Cys39=)	NC_000007.13:g.751026G>A	(Likely) benign	1 lab	e531b277e7
19:11210978 LDLR CG>C	19	11210978	11210979	CG	C	LDLR	c.148del	NM_000527.5	NP_000518.1:p.(Ala50LeufsTer156)	NC_000019.9:g.11210979del	(Likely) pathogenic	1 lab	e5342da771
1:216498790 USH2A G>C	1	216498790	216498790	G	C	USH2A	c.1000C>G	NM_206933.4	NP_996816.3:p.(Arg334Gly)	NC_000001.10:g.216498790G>C	VUS	1 lab	e534e4e07a
6:75847273 COL12A1 G>T	6	75847273	75847273	G	T	COL12A1	c.5274C>A	NM_004370.6	NP_004361.3:p.(Asn1758Lys)	NC_000006.11:g.75847273G>T	(Likely) benign	1 lab	e536879a26
1:45799040 MUTYH G>A	1	45799040	45799040	G	A	MUTYH	c.349-44C>T	NM_001128425.2	NP_001121897.1:p.?	NC_000001.10:g.45799040G>A	(Likely) benign	1 lab	e5368bfc30
10:61834560 ANK3 C>A	10	61834560	61834560	C	A	ANK3	c.6079G>T	NM_020987.5	NP_066267.2:p.(Asp2027Tyr)	NC_000010.10:g.61834560C>A	VUS	1 lab	e536982b2e
1:11907273 NPPA C>T	1	11907273	11907273	C	T	NPPA	c.347G>A	NM_006172.4	NP_006163.1:p.(Arg116Lys)	NC_000001.10:g.11907273C>T	VUS	1 lab	e536e6bd47
12:42512970 GXYLT1 G>A	12	42512970	42512970	G	A	GXYLT1	c.318C>T	NM_173601.2	NP_775872.1:p.(Tyr106=)	NC_000012.11:g.42512970G>A	(Likely) benign	1 lab	e539a6c9d4
17:56780542 RAD51C GT>G	17	56780542	56780546	GT	G	RAD51C	c.572-11del	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56780546del	(Likely) benign	1 lab	e53b0ac926
9:107579640 ABCA1 C>T	9	107579640	107579640	C	T	ABCA1	c.3508G>A	NM_005502.4	NP_005493.2:p.(Asp1170Asn)	NC_000009.11:g.107579640C>T	VUS	1 lab	e53e34f2f5
17:45216210 CDC27 A>G	17	45216210	45216210	A	G	CDC27	c.1617T>C	NM_001114091.4	NP_001107563.1:p.(Val539=)	NC_000017.10:g.45216210A>G	(Likely) benign	1 lab	e543432068
3:154898136 MME G>A	3	154898136	154898136	G	A	MME	c.2154-13G>A	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154898136G>A	(Likely) benign	1 lab	e544cd607d
X:153608554 EMD CACCGATGCCCCCTCTGCT>C	X	153608554	153608576	CACCGATGCCCCCTCTGCT	C	EMD	c.266-35_266-18del	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608559_153608576del	(Likely) pathogenic	1 lab	e545666b38
11:76915149 MYO7A G>A	11	76915149	76915149	G	A	MYO7A	c.5355G>A	NM_000260.4	NP_000251.3:p.(Pro1785=)	NC_000011.9:g.76915149G>A	(Likely) benign	1 lab	e54747b90e
7:92140253 PEX1 A>G	7	92140253	92140253	A	G	PEX1	c.963+5T>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92140253A>G	(Likely) benign	1 lab	e5483f88aa
10:75871668 VCL C>T	10	75871668	75871668	C	T	VCL	c.2747C>T	NM_014000.3	NP_054706.1:p.(Pro916Leu)	NC_000010.10:g.75871668C>T	VUS	1 lab	e54aef9729
2:21234313 APOB G>A	2	21234313	21234313	G	A	APOB	c.5427C>T	NM_000384.3	NP_000375.3:p.(Thr1809=)	NC_000002.11:g.21234313G>A	(Likely) benign	1 lab	e54b5f0564
19:35757841 LSR C>G	19	35757841	35757841	C	G	LSR	c.1115C>G	NM_205834.4	NP_991403.2:p.(Pro372Arg)	NC_000019.9:g.35757841C>G	VUS	1 lab	e54ba2f17a
10:33209266 ITGB1 G>T	10	33209266	33209266	G	T	ITGB1	c.1176C>A	NM_002211.4	NP_002202.2:p.(Gly392=)	NC_000010.10:g.33209266G>T	(Likely) benign	1 lab	e54ed88ba0
6:76660715 IMPG1 C>A	6	76660715	76660715	C	A	IMPG1	c.1388G>T	NM_001563.4	NP_001554.2:p.(Gly463Val)	NC_000006.11:g.76660715C>A	(Likely) benign	1 lab	e54f934187
12:133635053 ZNF84 A>G	12	133635053	133635053	A	G	ZNF84	c.1752A>G	NM_001289972.2	NP_001276901.1:p.(Ser584=)	NC_000012.11:g.133635053A>G	(Likely) benign	1 lab	e5504a6073
6:7574476 DSP A>G	6	7574476	7574476	A	G	DSP	c.2288A>G	NM_004415.4	NP_004406.2:p.(Tyr763Cys)	NC_000006.11:g.7574476A>G	VUS	1 lab	e5519736a7
1:63067567 ANGPTL3 A>G	1	63067567	63067567	A	G	ANGPTL3	c.835+14A>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63067567A>G	(Likely) benign	1 lab	e552936b29
8:1702725 MISSING Ref too long to show for this DEL>G	8	1702725	1791390	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.1702726_1791390del	(Likely) pathogenic	1 lab	e55c9e11c7
6:7585082 DSP T>C	6	7585082	7585082	T	C	DSP	c.7587T>C	NM_004415.4	NP_004406.2:p.(Asp2529=)	NC_000006.11:g.7585082T>C	(Likely) benign	1 lab	e55e5651f5
12:53701482 AAAS G>A	12	53701482	53701482	G	A	AAAS	c.1432C>T	NM_015665.6	NP_056480.1:p.(Arg478Ter)	NC_000012.11:g.53701482G>A	(Likely) pathogenic	1 lab	e55f279d55
10:112572338 RBM20 A>G	10	112572338	112572338	A	G	RBM20	c.2183A>G	NM_001134363.3	NP_001127835.2:p.(Glu728Gly)	NC_000010.10:g.112572338A>G	VUS	1 lab	e55f9e8b39
16:85743878 CLMB GGCT>G	16	85743878	85743897	GGCT	G	CLMB	c.61_63del	NM_206967.3	NP_996850.1:p.(Ser21del)	NC_000016.9:g.85743895_85743897del	(Likely) benign	1 lab	e55fe0fd64
12:52306908 ACVRL1 C>T	12	52306908	52306908	C	T	ACVRL1	c.87C>T	NM_000020.3	NP_000011.2:p.(Gly29=)	NC_000012.11:g.52306908C>T	(Likely) benign	1 lab	e560567636
5:147813093 FBXO38 G>GA	5	147813093	147813099	G	GA	FBXO38	c.2754+12dup	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147813099dup	(Likely) benign	1 lab	e56233b578
5:145838635 TCERG1 T>TCAGGCCCAGGCC	5	145838635	145838673	T	TCAGGCCCAGGCC	TCERG1	c.654_665dup	NM_006706.4	NP_006697.2:p.(Ala239_Gln242dup)	NC_000005.9:g.145838662_145838673dup	(Likely) benign	1 lab	e562c0a5e6
2:179411837 TTN C>G	2	179411837	179411837	C	G	TTN	c.94415G>C	NM_001267550.2	NP_001254479.2:p.(Gly31472Ala)	NC_000002.11:g.179411837C>G	VUS	1 lab	e5644bdbfe
15:48748786 FBN1 C>T	15	48748786	48748786	C	T	FBN1	c.5422+48G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48748786C>T	(Likely) benign	1 lab	e5654350ee
11:47370437 MYBPC3 C>G	11	47370437	47370437	C	G	MYBPC3	c.655-345G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370437C>G	(Likely) benign	1 lab	e56b64eeac
5:138655196 MATR3 A>G	5	138655196	138655196	A	G	MATR3	c.1602+6A>G	NM_199189.3	NP_954659.1:p.?	NC_000005.9:g.138655196A>G	(Likely) benign	1 lab	e56f35fcb6
3:38991578 SCN11A A>G	3	38991578	38991578	A	G	SCN11A	c.267+9T>C	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38991578A>G	(Likely) benign	1 lab	e56f828b05
19:3110203 GNA11 G>A	19	3110203	3110203	G	A	GNA11	c.193G>A	NM_002067.5	NP_002058.2:p.(Ala65Thr)	NC_000019.9:g.3110203G>A	(Likely) benign	1 lab	e570482658
11:47357426 MYBPC3 A>T	11	47357426	47357426	A	T	MYBPC3	c.2737+2T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357426A>T	(Likely) pathogenic	1 lab	e571186803
17:1559926 PRPF8 C>G	17	1559926	1559926	C	G	PRPF8	c.5619+16G>C	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1559926C>G	(Likely) benign	1 lab	e57303bbd5
7:11369401 MISSING Ref too long to show for this DEL>A	7	11369401	11580072	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.11369405_11580072del	VUS	1 lab	e5771a5149
16:88798330 PIEZO1 A>AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGAGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	16	88798330	88798341	A	AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGAGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGG	PIEZO1	c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCTCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGAGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGG	(Likely) benign	1 lab	e577eac259
12:96131895 NTN4 A>G	12	96131895	96131895	A	G	NTN4	c.613T>C	NM_021229.4	NP_067052.2:p.(Tyr205His)	NC_000012.11:g.96131895A>G	(Likely) benign	1 lab	e578106c44
3:38597819 SCN5A G>A	3	38597819	38597819	G	A	SCN5A	c.4437+113C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597819G>A	(Likely) benign	1 lab	e57fbf234d
6:135752328 AHI1 T>C	6	135752328	135752328	T	C	AHI1	c.2373+18A>G	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135752328T>C	(Likely) benign	1 lab	e58121905b
X:154509348 CLIC2 G>C	X	154509348	154509348	G	C	CLIC2	c.303C>G	NM_001289.6	NP_001280.3:p.(His101Gln)	NC_000023.10:g.154509348G>C	(Likely) benign	1 lab	e581b32213
9:87317159 NTRK2 A>G	9	87317159	87317159	A	G	NTRK2	c.287+11A>G	NM_001369532.1	NP_001356461.1:p.?	NC_000009.11:g.87317159A>G	(Likely) benign	1 lab	e5836b5171
4:1808390 FGFR3 C>T	4	1808390	1808390	C	T	FGFR3	c.2148C>T	NM_000142.5	NP_000133.1:p.(Pro716=)	NC_000004.11:g.1808390C>T	(Likely) benign	1 lab	e5852e4270
2:74763122 LOXL3 C>T	2	74763122	74763122	C	T	LOXL3	c.1248+1G>A	NM_032603.5	NP_115992.1:p.?	NC_000002.11:g.74763122C>T	(Likely) pathogenic	1 lab	e58b749c42
12:88510942 CEP290 C>A	12	88510942	88510942	C	A	CEP290	c.1712-20G>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88510942C>A	(Likely) benign	1 lab	e58b75002b
11:2604683 KCNQ1 G>A	11	2604683	2604683	G	A	KCNQ1	c.940G>A	NM_000218.3	NP_000209.2:p.(Gly314Ser)	NC_000011.9:g.2604683G>A	(Likely) pathogenic	1 lab	e58c6ec3b0
16:1005083 LMF1 C>T	16	1005083	1005083	C	T	LMF1	c.-361-417G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005083C>T	(Likely) benign	1 lab	e58fbc60b0
5:127623903 FBN2 G>C	5	127623903	127623903	G	C	FBN2	c.6757+227C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127623903G>C	(Likely) benign	1 lab	e592262f2f
4:114278421 ANK2 T>G	4	114278421	114278421	T	G	ANK2	c.8788T>G	NM_001386174.1	NP_001373103.1:p.(Phe2930Val)	NC_000004.11:g.114278421T>G	VUS	1 lab	e5928e4f6b
1:27877772 AHDC1 CG>C	1	27877772	27877775	CG	C	AHDC1	c.854del	NM_001029882.3	NP_001025053.1:p.(Pro285ArgfsTer4)	NC_000001.10:g.27877775del	(Likely) pathogenic	1 lab	e59334a165
4:108817178 SGMS2 A>C	4	108817178	108817178	A	C	SGMS2	c.455+14A>C	NM_152621.6	NP_689834.1:p.?	NC_000004.11:g.108817178A>C	(Likely) benign	1 lab	e596014856
20:4680088 PRNP GCAGCCCCATGGTGGTGGCTGGGGA>G	20	4680088	4680117	GCAGCCCCATGGTGGTGGCTGGGGA	G	PRNP	c.228_251del	NM_000311.5	NP_000302.1:p.(Pro84_Gln91del)	NC_000020.10:g.4680094_4680117del	(Likely) benign	1 lab	e59844b7ce
19:11231209 LDLR C>T	19	11231209	11231209	C	T	LDLR	c.2140+11C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231209C>T	(Likely) benign	1 lab	e598d7a51e
X:2741091 MISSING Ref too long to show for this DEL>C	X	2741091	3540019	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.2741094_3540019del	(Likely) pathogenic	1 lab	e598dd30d7
19:8160897 FBN3 G>C	19	8160897	8160897	G	C	FBN3	c.5607C>G	NM_032447.5	NP_115823.3:p.(Asn1869Lys)	NC_000019.9:g.8160897G>C	(Likely) benign	1 lab	e59acd3fd6
19:1497153 REEP6 A>C	19	1497153	1497153	A	C	REEP6	c.599-20A>C	NM_001329556.3	NP_001316485.1:p.?	NC_000019.9:g.1497153A>C	(Likely) benign	1 lab	e59d523b3c
8:1882010 ARHGEF10 G>A	8	1882010	1882010	G	A	ARHGEF10	c.3196G>A	NM_001308153.2	NP_001295082.1:p.(Val1066Ile)	NC_000008.10:g.1882010G>A	VUS	1 lab	e59feacc6d
2:1491764 TPO G>A	2	1491764	1491764	G	A	TPO	c.1768+1G>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1491764G>A	(Likely) pathogenic	1 lab	e5a36c78c5
6:17606205 FAM8A1 G>A	6	17606205	17606205	G	A	FAM8A1	c.1058G>A	NM_016255.3	NP_057339.1:p.(Arg353Gln)	NC_000006.11:g.17606205G>A	(Likely) benign	1 lab	e5a56ff9ab
11:61730439 BEST1 C>A	11	61730439	61730439	C	A	BEST1	c.841C>A	NM_001363593.2	NP_001350522.1:p.(Pro281Thr)	NC_000011.9:g.61730439C>A	(Likely) benign	1 lab	e5a801fa3e
12:968522 WNK1 A>G	12	968522	968522	A	G	WNK1	c.1512A>G	NM_001184985.2	NP_001171914.1:p.(Leu504=)	NC_000012.11:g.968522A>G	(Likely) benign	1 lab	e5a8413164
17:39197593 KRTAP1-1 G>T	17	39197593	39197593	G	T	KRTAP1-1	c.57C>A	NM_030967.3	NP_112229.1:p.(Thr19=)	NC_000017.10:g.39197593G>T	(Likely) benign	1 lab	e5a8e72d00
3:184917104 MISSING A>Alt too long to show for this DUP	3	184917104	185133238	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.184917105_185133238dup	VUS	1 lab	e5abd4e137
15:55841085 PYGO1 T>Alt too long to show for this DUP	15	55841085	55856860	T	Alt too long to show for this DUP	PYGO1	c.50-15667_135+22dup	NM_001367806.1	NP_001354735.1:p.?	NC_000015.9:g.55841086_55856860dup	VUS	1 lab	e5ace2394f
1:156851346 NTRK1 C>T	1	156851346	156851346	C	T	NTRK1	c.2303C>T	NM_002529.4	NP_002520.2:p.(Pro768Leu)	NC_000001.10:g.156851346C>T	(Likely) pathogenic	1 lab	e5af01d44a
8:38277066 FGFR1 C>T	8	38277066	38277066	C	T	FGFR1	c.1245G>A	NM_001174064.2	NP_001167535.1:p.(Leu415=)	NC_000008.10:g.38277066C>T	(Likely) benign	1 lab	e5af53dd65
2:74762798 LOXL3 TGAG>T	2	74762798	74762802	TGAG	T	LOXL3	c.1330_1332del	NM_032603.5	NP_115992.1:p.(Leu444del)	NC_000002.11:g.74762800_74762802del	(Likely) pathogenic	1 lab	e5b04e9f26
11:85421122 SYTL2 Ref too long to show for this DEL>T	11	85421122	85443352	Ref too long to show for this DEL	T	SYTL2	c.1390+1630_5746-580del	NM_206927.4	NP_996810.2:p.?	NC_000011.9:g.85421123_85443352del	VUS	1 lab	e5b70e2f42
12:21331499 SLCO1B1 T>C	12	21331499	21331499	T	C	SLCO1B1	c.482-11T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331499T>C	(Likely) benign	1 lab	e5bcb70072
15:73617454 HCN4 A>G	15	73617454	73617454	A	G	HCN4	c.1820T>C	NM_005477.3	NP_005468.1:p.(Met607Thr)	NC_000015.9:g.73617454A>G	VUS	1 lab	e69e30b1d6
13:52516532 ATP7B G>A	13	52516532	52516532	G	A	ATP7B	c.3402C>T	NM_000053.4	NP_000044.2:p.(Pro1134=)	NC_000013.10:g.52516532G>A	(Likely) benign	1 lab	e5bd560814
12:21331495 SLCO1B1 C>T	12	21331495	21331495	C	T	SLCO1B1	c.482-15C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331495C>T	(Likely) benign	1 lab	e5c35009af
10:90975322 LIPA T>C	10	90975322	90975322	T	C	LIPA	c.966+373A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975322T>C	(Likely) benign	1 lab	e5c4414a41
11:32758443 CCDC73 A>Alt too long to show for this DUP	11	32758443	32782478	A	Alt too long to show for this DUP	CCDC73	c.-15-674_136-18751dup	NM_001008391.4	NP_001008392.2:p.?	NC_000011.9:g.32758444_32782478dup	VUS	1 lab	e5c5d9ed99
13:32913823 BRCA2 G>A	13	32913823	32913823	G	A	BRCA2	c.5331G>A	NM_000059.4	NP_000050.3:p.(Lys1777=)	NC_000013.10:g.32913823G>A	(Likely) benign	1 lab	e5cf844c59
3:193376746 OPA1 AT>A	3	193376746	193376750	AT	A	OPA1	c.2241del	NM_015560.3	NP_056375.2:p.(Phe747LeufsTer53)	NC_000003.11:g.193376750del	(Likely) pathogenic	1 lab	e5d0585160
4:100503132 MTTP T>G	4	100503132	100503132	T	G	MTTP	c.132T>G	NM_000253.4	NP_000244.2:p.(Leu44=)	NC_000004.11:g.100503132T>G	(Likely) benign	1 lab	e5d2de640b
11:121448015 SORL1 G>A	11	121448015	121448015	G	A	SORL1	c.3486G>A	NM_003105.6	NP_003096.2:p.(Glu1162=)	NC_000011.9:g.121448015G>A	(Likely) benign	1 lab	e5d37a57a5
1:237923151 RYR2 A>G	1	237923151	237923151	A	G	RYR2	c.11401A>G	NM_001035.3	NP_001026.2:p.(Ser3801Gly)	NC_000001.10:g.237923151A>G	VUS	1 lab	e5d74f002f
8:55542740 RP1 C>T	8	55542740	55542740	C	T	RP1	c.6298C>T	NM_006269.2	NP_006260.1:p.(Leu2100Phe)	NC_000008.10:g.55542740C>T	VUS	1 lab	e5d9b8ad22
9:100777705 ANP32B G>A	9	100777705	100777705	G	A	ANP32B	c.748G>A	NM_006401.3	NP_006392.1:p.(Asp250Asn)	NC_000009.11:g.100777705G>A	(Likely) benign	1 lab	e5da80d014
10:72635143 SGPL1 ATT>A	10	72635143	72635150	ATT	A	SGPL1	c.1299-10_1299-9del	NM_003901.4	NP_003892.2:p.?	NC_000010.10:g.72635149_72635150del	(Likely) benign	1 lab	e5da8b9677
19:17039023 CPAMD8 A>C	19	17039023	17039023	A	C	CPAMD8	c.3166T>G	NM_015692.5	NP_056507.3:p.(Ser1056Ala)	NC_000019.9:g.17039023A>C	(Likely) benign	1 lab	e5dc2e5436
2:179629340 TTN G>C	2	179629340	179629340	G	C	TTN	c.9902C>G	NM_001267550.2	NP_001254479.2:p.(Ala3301Gly)	NC_000002.11:g.179629340G>C	VUS	1 lab	e5dd4a3beb
9:137690388 COL5A1 C>T	9	137690388	137690388	C	T	COL5A1	c.2952+81C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137690388C>T	(Likely) benign	1 lab	e5e1deee75
5:180039492 FLT4 G>C	5	180039492	180039492	G	C	FLT4	c.3537+14C>G	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180039492G>C	(Likely) benign	1 lab	e5e26b9806
16:15835374 MYH11 T>G	16	15835374	15835374	T	G	MYH11	c.2826A>C	NM_001040113.2	NP_001035202.1:p.(Glu942Asp)	NC_000016.9:g.15835374T>G	VUS	1 lab	e5e27857db
15:71839680 THSD4 T>C	15	71839680	71839680	T	C	THSD4	c.1153-113189T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71839680T>C	(Likely) benign	1 lab	e5e9210bde
1:94528814 ABCA4 G>A	1	94528814	94528814	G	A	ABCA4	c.1614C>T	NM_000350.3	NP_000341.2:p.(Ala538=)	NC_000001.10:g.94528814G>A	(Likely) benign	1 lab	e5ea00d4f2
X:53267375 IQSEC2 G>A	X	53267375	53267375	G	A	IQSEC2	c.3229C>T	NM_001111125.3	NP_001104595.1:p.(Arg1077Cys)	NC_000023.10:g.53267375G>A	VUS	1 lab	e5ec2365ab
9:139395158 NOTCH1 G>A	9	139395158	139395158	G	A	NOTCH1	c.5780C>T	NM_017617.5	NP_060087.3:p.(Thr1927Met)	NC_000009.11:g.139395158G>A	VUS	1 lab	e5ed584678
1:74701895 TNNI3K G>A	1	74701895	74701895	G	A	TNNI3K	c.149+1G>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74701895G>A	VUS	1 lab	e5eeaaebae
20:5548208 GPCPD1 TAAA>T	20	5548208	5548224	TAAA	T	GPCPD1	c.1150-5_1150-3del	NM_019593.5	NP_062539.1:p.?	NC_000020.10:g.5548222_5548224del	(Likely) benign	1 lab	e5eed27912
3:57846576 SLMAP TC>T	3	57846576	57846577	TC	T	SLMAP	c.828+11del	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57846577del	(Likely) benign	1 lab	e5f0cd0c36
9:94817760 SPTLC1 C>A	9	94817760	94817760	C	A	SPTLC1	c.707G>T	NM_001281303.2	NP_001268232.1:p.(Arg236Leu)	NC_000009.11:g.94817760C>A	VUS	1 lab	e5f4629125
1:19559577 EMC1 C>A	1	19559577	19559577	C	A	EMC1	c.1485G>T	NM_015047.3	NP_055862.1:p.(Leu495=)	NC_000001.10:g.19559577C>A	(Likely) benign	1 lab	e5f82c3917
X:47107071 USP11 C>A	X	47107071	47107071	C	A	USP11	c.2598C>A	NM_001371072.1	NP_001358001.1:p.(Val866=)	NC_000023.10:g.47107071C>A	(Likely) benign	1 lab	e5f9da5467
22:40742686 ADSL C>T	22	40742686	40742686	C	T	ADSL	c.124C>T	NM_000026.4	NP_000017.1:p.(Leu42=)	NC_000022.10:g.40742686C>T	(Likely) benign	1 lab	e5fbaf319b
5:141035248 ARAP3 A>G	5	141035248	141035248	A	G	ARAP3	c.4050T>C	NM_022481.6	NP_071926.4:p.(Pro1350=)	NC_000005.9:g.141035248A>G	(Likely) benign	1 lab	e5fc8c82f2
11:68707864 IGHMBP2 C>T	11	68707864	68707864	C	T	IGHMBP2	c.*665C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68707864C>T	(Likely) benign	1 lab	e73b53aa36
12:50501423 GPD1 G>A	12	50501423	50501423	G	A	GPD1	c.686G>A	NM_005276.4	NP_005267.2:p.(Arg229Gln)	NC_000012.11:g.50501423G>A	(Likely) pathogenic	1 lab	e618d6e1fb
4:22425829 ADGRA3 A>G	4	22425829	22425829	A	G	ADGRA3	c.1590T>C	NM_145290.4	NP_660333.2:p.(Ala530=)	NC_000004.11:g.22425829A>G	(Likely) benign	1 lab	e600eb57fb
2:105990102 FHL2 G>A	2	105990102	105990102	G	A	FHL2	c.245C>T	NM_001450.4	NP_001441.4:p.(Ala82Val)	NC_000002.11:g.105990102G>A	VUS	1 lab	e601afa1e6
2:85536415 TCF7L1 G>A	2	85536415	85536415	G	A	TCF7L1	c.1597G>A	NM_031283.3	NP_112573.1:p.(Gly533Arg)	NC_000002.11:g.85536415G>A	(Likely) benign	1 lab	e601f75e87
5:127710316 FBN2 CT>C	5	127710316	127710318	CT	C	FBN2	c.2095+4del	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127710318del	(Likely) pathogenic	1 lab	e6034d8096
2:21245811 APOB G>A	2	21245811	21245811	G	A	APOB	c.2708C>T	NM_000384.3	NP_000375.3:p.(Thr903Ile)	NC_000002.11:g.21245811G>A	(Likely) benign	1 lab	e605c342e5
3:119361412 POPDC2 T>C	3	119361412	119361412	T	C	POPDC2	c.*44-4A>G	NM_001369919.2	NP_001356848.1:p.?	NC_000003.11:g.119361412T>C	(Likely) benign	1 lab	e6067afec6
6:16130803 MYLIP G>C	6	16130803	16130803	G	C	MYLIP	c.103G>C	NM_013262.4	NP_037394.2:p.(Gly35Arg)	NC_000006.11:g.16130803G>C	VUS	1 lab	e6101748cf
7:155604500 SHH C>T	7	155604500	155604500	C	T	SHH	c.300+17G>A	NM_000193.4	NP_000184.1:p.?	NC_000007.13:g.155604500C>T	(Likely) benign	1 lab	e6847e5839
14:81467593 TSHR Ref too long to show for this DEL>G	14	81467593	81471085	Ref too long to show for this DEL	G	TSHR	c.170+45400_170+48891del	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81467594_81471085del	VUS	1 lab	e61c545929
8:94817022 TMEM67 T>C	8	94817022	94817022	T	C	TMEM67	c.2355T>C	NM_153704.6	NP_714915.3:p.(Phe785=)	NC_000008.10:g.94817022T>C	(Likely) benign	1 lab	e61d9a6f5b
14:78036760 SPTLC2 C>T	14	78036760	78036760	C	T	SPTLC2	c.723G>A	NM_004863.4	NP_004854.1:p.(Thr241=)	NC_000014.8:g.78036760C>T	(Likely) benign	1 lab	e61f909fe3
10:55568468 PCDH15 T>C	10	55568468	55568468	T	C	PCDH15	c.5357A>G	NM_001142769.3	NP_001136241.1:p.(Tyr1786Cys)	NC_000010.10:g.55568468T>C	VUS	1 lab	e6228b851b
20:10629766 JAG1 A>C	20	10629766	10629766	A	C	JAG1	c.1349-11T>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629766A>C	(Likely) benign	1 lab	e62294aa5e
12:124393856 DNAH10 C>G	12	124393856	124393856	C	G	DNAH10	c.9510C>G	NM_207437.3	NP_997320.2:p.(Ile3170Met)	NC_000012.11:g.124393856C>G	VUS	1 lab	e6256f3b1e
2:25965693 ASXL2 TC>T	2	25965693	25965695	TC	T	ASXL2	c.3512del	NM_018263.6	NP_060733.4:p.(Gly1171GlufsTer25)	NC_000002.11:g.25965695del	(Likely) pathogenic	1 lab	e625762789
19:50766550 MYH14 C>G	19	50766550	50766550	C	G	MYH14	c.2586-19C>G	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50766550C>G	(Likely) benign	1 lab	e62f9fbdb6
4:65188201 TECRL A>C	4	65188201	65188201	A	C	TECRL	c.435+206T>G	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65188201A>C	(Likely) benign	1 lab	e63da5f94c
7:521434 MISSING G>Alt too long to show for this DUP	7	521434	534358	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.521435_534358dup	VUS	1 lab	e63ec08e39
1:6150508 KCNAB2 C>T	1	6150508	6150508	C	T	KCNAB2	c.574C>T	NM_001199862.2	NP_001186791.1:p.(Arg192Cys)	NC_000001.10:g.6150508C>T	VUS	1 lab	e63efa8e8c
6:7568816 DSP AGATCAGGTGTGT>A	6	7568816	7568828	AGATCAGGTGTGT	A	DSP	c.1414_1419+6del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568817_7568828del	VUS	1 lab	e642f50635
2:110922087 NPHP1 G>A	2	110922087	110922087	G	A	NPHP1	c.939+10C>T	NM_207181.4	NP_997064.2:p.?	NC_000002.11:g.110922087G>A	(Likely) benign	1 lab	e643f36821
10:104375022 SUFU C>T	10	104375022	104375022	C	T	SUFU	c.1023-3C>T	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104375022C>T	VUS	1 lab	e64471c8e7
15:45388026 DUOX2 C>A	15	45388026	45388026	C	A	DUOX2	c.4080G>T	NM_001363711.2	NP_001350640.1:p.(Lys1360Asn)	NC_000015.9:g.45388026C>A	VUS	1 lab	e646cb11d7
14:97304121 VRK1 A>C	14	97304121	97304121	A	C	VRK1	c.183A>C	NM_003384.3	NP_003375.1:p.(Ser61=)	NC_000014.8:g.97304121A>C	(Likely) benign	1 lab	e6488f6f60
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	e64bcc60a7
2:167056337 SCN9A C>A	2	167056337	167056337	C	A	SCN9A	c.4779G>T	NM_002977.3	NP_002968.1:p.(Val1593=)	NC_000002.11:g.167056337C>A	(Likely) benign	1 lab	e64c34f6d5
9:107651398 ABCA1 AG>A	9	107651398	107651401	AG	A	ABCA1	c.144del	NM_005502.4	NP_005493.2:p.(Tyr49MetfsTer74)	NC_000009.11:g.107651401del	(Likely) pathogenic	1 lab	e64ea4aad5
2:233721525 GIGYF2 G>A	2	233721525	233721525	G	A	GIGYF2	c.3918G>A	NM_001103147.2	NP_001096617.1:p.(Ser1306=)	NC_000002.11:g.233721525G>A	(Likely) benign	1 lab	e64fe5e275
2:166245801 SCN2A C>T	2	166245801	166245801	C	T	SCN2A	c.5485C>T	NM_001040143.2	NP_001035233.1:p.(Leu1829Phe)	NC_000002.11:g.166245801C>T	(Likely) pathogenic	1 lab	e65155f3e6
10:48382103 RBP3 G>A	10	48382103	48382103	G	A	RBP3	c.3546C>T	NM_002900.3	NP_002891.1:p.(His1182=)	NC_000010.10:g.48382103G>A	(Likely) benign	1 lab	e6569f62ed
19:16606674 CALR3 G>A	19	16606674	16606674	G	A	CALR3	c.92-11C>T	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606674G>A	(Likely) benign	1 lab	e6615db98c
3:132173004 DNAJC13 A>ATT	3	132173004	132173017	A	ATT	DNAJC13	c.932+15_932+16dup	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132173016_132173017dup	(Likely) benign	1 lab	e661c2bdf8
9:137660308 COL5A1 CG>C	9	137660308	137660310	CG	C	COL5A1	c.2286+1del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137660310del	(Likely) pathogenic	1 lab	e664ff7f4f
2:32108454 MEMO1 C>G	2	32108454	32108454	C	G	MEMO1	c.939+1G>C	NM_001385196.1	NP_001372125.1:p.?	NC_000002.11:g.32108454C>G	VUS	1 lab	e668247f46
16:23646314 PALB2 G>C	16	23646314	23646314	G	C	PALB2	c.1553C>G	NM_024675.4	NP_078951.2:p.(Ser518Ter)	NC_000016.9:g.23646314G>C	(Likely) pathogenic	1 lab	e669c49aba
19:10870442 DNM2 G>A	19	10870442	10870442	G	A	DNM2	c.190G>A	NM_001005360.3	NP_001005360.1:p.(Val64Ile)	NC_000019.9:g.10870442G>A	(Likely) benign	1 lab	e66e9e07bb
7:100411278 EPHB4 T>C	7	100411278	100411278	T	C	EPHB4	c.1752A>G	NM_004444.5	NP_004435.3:p.(Gly584=)	NC_000007.13:g.100411278T>C	(Likely) benign	1 lab	e67240d59b
5:37995398 MISSING A>Alt too long to show for this DUP	5	37995398	38067282	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.37995399_38067282dup	VUS	1 lab	e6737a80dc
2:179403285 TTN T>G	2	179403285	179403285	T	G	TTN	c.99271A>C	NM_001267550.2	NP_001254479.2:p.(Ile33091Leu)	NC_000002.11:g.179403285T>G	VUS	1 lab	e67b684d14
11:83561065 DLG2 Ref too long to show for this DEL>A	11	83561065	83899936	Ref too long to show for this DEL	A	DLG2	c.574-25379_1566-16253del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.83561069_83899936del	VUS	1 lab	e6801e1f36
17:57738813 CLTC C>T	17	57738813	57738813	C	T	CLTC	c.1177C>T	NM_004859.4	NP_004850.1:p.(Arg393Cys)	NC_000017.10:g.57738813C>T	VUS	1 lab	e683680106
14:23885457 MYH7 G>T	14	23885457	23885457	G	T	MYH7	c.4709C>A	NM_000257.4	NP_000248.2:p.(Ala1570Glu)	NC_000014.8:g.23885457G>T	VUS	1 lab	e6848f22a8
2:179440864 TTN T>G	2	179440864	179440864	T	G	TTN	c.69995A>C	NM_001267550.2	NP_001254479.2:p.(Asp23332Ala)	NC_000002.11:g.179440864T>G	VUS	1 lab	e69dfe72f9
2:44066242 ABCG8 C>CCCAGGATACCTCG	2	44066242	44066255	C	CCCAGGATACCTCG	ABCG8	c.51_63dup	NM_022437.3	NP_071882.1:p.(Gly22ProfsTer9)	NC_000002.11:g.44066243_44066255dup	VUS	1 lab	e6863de0f8
14:105185146 INF2 C>T	14	105185146	105185146	C	T	INF2	c.3709C>T	NM_001031714.4	NP_001026884.3:p.(Pro1237Ser)	NC_000014.8:g.105185146C>T	(Likely) benign	1 lab	e68a0b958b
19:11233992 LDLR G>A	19	11233992	11233992	G	A	LDLR	c.2283G>A	NM_000527.5	NP_000518.1:p.(Thr761=)	NC_000019.9:g.11233992G>A	(Likely) benign	1 lab	e68a51abeb
6:66063367 EYS C>T	6	66063367	66063367	C	T	EYS	c.1443G>A	NM_001292009.2	NP_001278938.1:p.(Trp481Ter)	NC_000006.11:g.66063367C>T	(Likely) pathogenic	1 lab	e68ebd88da
4:100485255 MTTP G>A	4	100485255	100485255	G	A	MTTP	c.3G>A	NM_001300785.1	NP_001287714.1:p.(Met1?)	NC_000004.11:g.100485255G>A	(Likely) benign	1 lab	e68f197660
9:133759417 ABL1 G>A	9	133759417	133759417	G	A	ABL1	c.1740G>A	NM_005157.6	NP_005148.2:p.(Pro580=)	NC_000009.11:g.133759417G>A	(Likely) benign	1 lab	e6926044f3
1:63063465 ANGPTL3 C>G	1	63063465	63063465	C	G	ANGPTL3	c.228C>G	NM_014495.4	NP_055310.1:p.(Asn76Lys)	NC_000001.10:g.63063465C>G	(Likely) benign	1 lab	e698510dcf
11:68671470 IGHMBP2 T>C	11	68671470	68671470	T	C	IGHMBP2	c.50T>C	NM_002180.3	NP_002171.2:p.(Leu17Pro)	NC_000011.9:g.68671470T>C	(Likely) pathogenic	1 lab	e699e6b4b2
4:15504141 CC2D2A G>T	4	15504141	15504141	G	T	CC2D2A	c.336+1G>T	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15504141G>T	(Likely) pathogenic	1 lab	e69d578cf9
13:50121311 RCBTB1 C>CAAA	13	50121311	50121324	C	CAAA	RCBTB1	c.466+2280_466+2282dup	NM_001352506.2	NP_001339435.1:p.?	NC_000013.10:g.50121322_50121324dup	(Likely) benign	1 lab	e69d5a10ff
17:61391773 MISSING C>Alt too long to show for this DUP	17	61391773	61730016	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.61391776_61730016dup	(Likely) pathogenic	1 lab	e8e9a2c07c
7:151433021 PRKAG2 G>A	7	151433021	151433021	G	A	PRKAG2	c.59C>T	NM_001304527.2	NP_001291456.1:p.(Thr20Met)	NC_000007.13:g.151433021G>A	VUS	1 lab	e6a0c7734a
15:45407978 DUOXA2 C>A	15	45407978	45407978	C	A	DUOXA2	c.148-19C>A	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45407978C>A	(Likely) benign	1 lab	e6a949e3fa
17:39974369 FKBP10 C>G	17	39974369	39974369	C	G	FKBP10	c.420C>G	NM_021939.4	NP_068758.3:p.(Leu140=)	NC_000017.10:g.39974369C>G	(Likely) benign	1 lab	e6aa790980
9:116044905 PRPF4 C>CT	9	116044905	116044920	C	CT	PRPF4	c.396-6dup	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116044920dup	(Likely) benign	1 lab	e6aa9e0411
3:10188193 VHL G>A	3	10188193	10188193	G	A	VHL	c.341-5G>A	NM_000551.4	NP_000542.1:p.?	NC_000003.11:g.10188193G>A	(Likely) benign	1 lab	e6abc261d0
19:41018886 SPTBN4 T>C	19	41018886	41018886	T	C	SPTBN4	c.2190T>C	NM_020971.3	NP_066022.2:p.(Gly730=)	NC_000019.9:g.41018886T>C	(Likely) benign	1 lab	e6b52a5b06
7:152517392 ACTR3B T>C	7	152517392	152517392	T	C	ACTR3B	c.549T>C	NM_020445.6	NP_065178.1:p.(Gly183=)	NC_000007.13:g.152517392T>C	(Likely) benign	1 lab	e6b9cd9545
16:88501033 ZNF469 C>G	16	88501033	88501033	C	G	ZNF469	c.7155C>G	NM_001367624.2	NP_001354553.1:p.(Thr2385=)	NC_000016.9:g.88501033C>G	(Likely) benign	1 lab	e6bb29ec7b
1:94544140 ABCA4 C>CG	1	94544140	94544141	C	CG	ABCA4	c.1356+5_1356+6insC	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94544140_94544141insG	(Likely) benign	1 lab	e6bcf684ab
X:39911390 BCOR C>G	X	39911390	39911390	C	G	BCOR	c.5240G>C	NM_001123385.2	NP_001116857.1:p.(Ser1747Thr)	NC_000023.10:g.39911390C>G	VUS	1 lab	e6bdd082dd
9:107584864 ABCA1 AC>A	9	107584864	107584866	AC	A	ABCA1	c.2740del	NM_005502.4	NP_005493.2:p.(Val914TrpfsTer8)	NC_000009.11:g.107584866del	(Likely) pathogenic	1 lab	e6bdd36d59
1:10363420 KIF1B A>C	1	10363420	10363420	A	C	KIF1B	c.2177A>C	NM_183416.4	NP_904325.2:p.(Asp726Ala)	NC_000001.10:g.10363420A>C	VUS	1 lab	e6c12c136e
12:41333159 CNTN1 G>T	12	41333159	41333159	G	T	CNTN1	c.1251G>T	NM_001843.4	NP_001834.2:p.(Met417Ile)	NC_000012.11:g.41333159G>T	(Likely) benign	1 lab	e6c1e43dc4
6:79657421 PHIP A>G	6	79657421	79657421	A	G	PHIP	c.4125T>C	NM_017934.7	NP_060404.4:p.(Tyr1375=)	NC_000006.11:g.79657421A>G	(Likely) benign	1 lab	e6c236d1b3
3:189702362 P3H2 A>G	3	189702362	189702362	A	G	P3H2	c.1206T>C	NM_018192.4	NP_060662.2:p.(Tyr402=)	NC_000003.11:g.189702362A>G	(Likely) benign	1 lab	e6c30e7821
14:23888450 MYH7 C>A	14	23888450	23888450	C	A	MYH7	c.3908G>T	NM_000257.4	NP_000248.2:p.(Arg1303Leu)	NC_000014.8:g.23888450C>A	VUS	1 lab	e6c93aee63
5:133948421 SAR1B G>A	5	133948421	133948421	G	A	SAR1B	c.204C>T	NM_001033503.3	NP_001028675.1:p.(Gly68=)	NC_000005.9:g.133948421G>A	VUS	1 lab	e6cfd3d6be
2:206641245 NRP2 T>TA	2	206641245	206641246	T	TA	NRP2	c.2716_2717insA	NM_018534.4	NP_061004.3:p.(Cys906Ter)	NC_000002.11:g.206641245_206641246insA	(Likely) benign	1 lab	e6cfe77b60
X:146928191 MISSING A>Alt too long to show for this DUP	X	146928191	147242354	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.146928192_147242354dup	(Likely) pathogenic	1 lab	e6d0607f6d
8:19805768 LPL C>A	8	19805768	19805768	C	A	LPL	c.166C>A	NM_000237.3	NP_000228.1:p.(Leu56Ile)	NC_000008.10:g.19805768C>A	VUS	1 lab	e6d0f0dc61
15:48826245 FBN1 AC>A	15	48826245	48826251	AC	A	FBN1	c.862+31del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826251del	(Likely) benign	1 lab	e6d2ab056a
12:64020310 DPY19L2 T>TAA	12	64020310	64020320	T	TAA	DPY19L2	c.804-6_804-5dup	NM_173812.5	NP_776173.3:p.?	NC_000012.11:g.64020319_64020320dup	(Likely) benign	1 lab	e6d47cc1d2
2:179483131 TTN C>T	2	179483131	179483131	C	T	TTN	c.47054G>A	NM_001267550.2	NP_001254479.2:p.(Gly15685Asp)	NC_000002.11:g.179483131C>T	VUS	1 lab	e6db871d72
19:12768948 MAN2B1 T>C	19	12768948	12768948	T	C	MAN2B1	c.1238A>G	NM_000528.4	NP_000519.2:p.(Asn413Ser)	NC_000019.9:g.12768948T>C	(Likely) benign	1 lab	e6dd0e7225
7:30671106 GARS1 G>A	7	30671106	30671106	G	A	GARS1	c.1852G>A	NM_002047.4	NP_002038.2:p.(Val618Ile)	NC_000007.13:g.30671106G>A	VUS	1 lab	e6dd45e500
16:1004392 LMF1 G>A	16	1004392	1004392	G	A	LMF1	c.468C>T	NM_022773.4	NP_073610.2:p.(Gly156=)	NC_000016.9:g.1004392G>A	(Likely) benign	1 lab	e6de0abaf8
11:88911242 TYR G>A	11	88911242	88911242	G	A	TYR	c.121G>A	NM_000372.5	NP_000363.1:p.(Gly41Arg)	NC_000011.9:g.88911242G>A	(Likely) pathogenic	1 lab	e6de3f1f2f
19:49693569 TRPM4 C>T	19	49693569	49693569	C	T	TRPM4	c.2124C>T	NM_017636.4	NP_060106.2:p.(Ile708=)	NC_000019.9:g.49693569C>T	(Likely) benign	1 lab	e6de581718
11:47368848 MYBPC3 C>T	11	47368848	47368848	C	T	MYBPC3	c.905+129G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368848C>T	VUS	1 lab	e6e1845e5b
22:43098262 MISSING Ref too long to show for this DEL>G	22	43098262	43125214	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.43098265_43125214del	VUS	1 lab	e6e2d6e2ac
21:34929528 SON C>T	21	34929528	34929528	C	T	SON	c.6227C>T	NM_138927.4	NP_620305.3:p.(Pro2076Leu)	NC_000021.8:g.34929528C>T	VUS	1 lab	e6eb3f96d9
19:11200225 LDLR-AS1 A>T	19	11200225	11200225	A	T	LDLR-AS1	n.111T>A	NR_163945.1		NC_000019.9:g.11200225A>T	(Likely) pathogenic	1 lab	e6ef4c540c
5:127611765 FBN2 C>A	5	127611765	127611765	C	A	FBN2	c.7559G>T	NM_001999.4	NP_001990.2:p.(Gly2520Val)	NC_000005.9:g.127611765C>A	VUS	1 lab	e6f02d920a
15:34549913 SLC12A6 C>T	15	34549913	34549913	C	T	SLC12A6	c.593G>A	NM_001042496.2	NP_001035961.1:p.(Arg198His)	NC_000015.9:g.34549913C>T	VUS	1 lab	e6f2ea9933
13:110845242 MISSING Ref too long to show for this DEL>C	13	110845242	111106213	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.110845243_111106213del	(Likely) pathogenic	1 lab	e6f704aaca
2:179638624 TTN T>C	2	179638624	179638624	T	C	TTN	c.7271A>G	NM_001267550.2	NP_001254479.2:p.(Asn2424Ser)	NC_000002.11:g.179638624T>C	VUS	1 lab	e6f9bd11d3
17:48278833 COL1A1 C>G	17	48278833	48278833	C	G	COL1A1	c.42G>C	NM_000088.4	NP_000079.2:p.(Ala14=)	NC_000017.10:g.48278833C>G	(Likely) benign	1 lab	e6fba33335
1:178489497 TEX35 Ref too long to show for this DEL>T	1	178489497	178491715	Ref too long to show for this DEL	T	TEX35	c.277-8_*140del	NM_032126.5	NP_115502.2:p.?	NC_000001.10:g.178489499_178491715del	VUS	1 lab	e6fe03da85
3:150658263 CLRN1 A>G	3	150658263	150658263	A	G	CLRN1	c.*47+1106T>C	NM_001256819.2	NP_001243748.1:p.?	NC_000003.11:g.150658263A>G	(Likely) benign	1 lab	e6ffabfc45
14:50585589 SOS2 T>G	14	50585589	50585589	T	G	SOS2	c.3490-18A>C	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50585589T>G	(Likely) benign	1 lab	e70119cc4f
19:49691920 TRPM4 C>T	19	49691920	49691920	C	T	TRPM4	c.1766C>T	NM_017636.4	NP_060106.2:p.(Ala589Val)	NC_000019.9:g.49691920C>T	VUS	1 lab	e73aedc133
19:10897393 DNM2 C>T	19	10897393	10897393	C	T	DNM2	c.992+11C>T	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10897393C>T	(Likely) benign	1 lab	e70bd6e30d
22:21341771 LZTR1 ACCACCCCTGTGC>A	22	21341771	21341790	ACCACCCCTGTGC	A	LZTR1	c.321-14_321-3del	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21341779_21341790del	(Likely) benign	1 lab	e70db6d0e3
11:108180888 ATM C>T	11	108180888	108180888	C	T	ATM	c.5764C>T	NM_000051.4	NP_000042.3:p.(Pro1922Ser)	NC_000011.9:g.108180888C>T	VUS	1 lab	e71362d424
11:27414071 LGR4 G>A	11	27414071	27414071	G	A	LGR4	c.258-6C>T	NM_018490.5	NP_060960.2:p.?	NC_000011.9:g.27414071G>A	(Likely) benign	1 lab	e7157463e9
1:25890050 LDLRAP1 A>G	1	25890050	25890050	A	G	LDLRAP1	c.617-102A>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890050A>G	(Likely) benign	1 lab	e715c2768f
2:21233641 APOB G>A	2	21233641	21233641	G	A	APOB	c.6099C>T	NM_000384.3	NP_000375.3:p.(Pro2033=)	NC_000002.11:g.21233641G>A	(Likely) benign	1 lab	e718006234
10:88446811 LDB3 G>T	10	88446811	88446811	G	T	LDB3	c.690-15G>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88446811G>T	(Likely) benign	1 lab	e719b95d41
15:54907448 MISSING T>Alt too long to show for this DUP	15	54907448	54938398	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.54907449_54938398dup	VUS	1 lab	e71a375f5f
2:179606549 TTN G>A	2	179606549	179606549	G	A	TTN	c.11411C>T	NM_001267550.2	NP_001254479.2:p.(Ser3804Phe)	NC_000002.11:g.179606549G>A	VUS	1 lab	e71c7b3ccb
15:52697508 MYO5A T>G	15	52697508	52697508	T	G	MYO5A	c.1029A>C	NM_000259.3	NP_000250.3:p.(Arg343=)	NC_000015.9:g.52697508T>G	(Likely) benign	1 lab	e71dcb7913
22:31322826 MORC2 G>A	22	31322826	31322826	G	A	MORC2	c.2877C>T	NM_014941.3	NP_055756.1:p.(Asp959=)	NC_000022.10:g.31322826G>A	(Likely) benign	1 lab	e71f3ee9a6
12:88513965 CEP290 G>A	12	88513965	88513965	G	A	CEP290	c.1448C>T	NM_025114.4	NP_079390.3:p.(Thr483Ile)	NC_000012.11:g.88513965G>A	VUS	1 lab	e71fa23b3b
2:179611998 TTN G>A	2	179611998	179611998	G	A	TTN	c.15129C>T	NM_133379.5	NP_596870.2:p.(Ser5043=)	NC_000002.11:g.179611998G>A	(Likely) benign	1 lab	e7204f3f8a
2:219679721 CYP27A1 G>A	2	219679721	219679721	G	A	CYP27A1	c.1564G>A	NM_000784.4	NP_000775.1:p.(Val522Met)	NC_000002.11:g.219679721G>A	VUS	1 lab	e7267ffb8e
12:112036758 ATXN2 C>CTGCTGCTGCTGCTGCTGCTGT	12	112036758	112036779	C	CTGCTGCTGCTGCTGCTGCTGT	ATXN2	c.80_81insACAGCAGCAGCAGCAGCAGCA	NM_002973.4	NP_002964.4:p.(Gln22_Gln28dup)	NC_000012.11:g.112036778_112036779insTTGCTGCTGCTGCTGCTGCTG	(Likely) benign	1 lab	e7307f67bc
2:179414490 TTN G>A	2	179414490	179414490	G	A	TTN	c.91959C>T	NM_001267550.2	NP_001254479.2:p.(Thr30653=)	NC_000002.11:g.179414490G>A	(Likely) benign	1 lab	e730bb8392
9:107647121 ABCA1 A>G	9	107647121	107647121	A	G	ABCA1	c.161-272T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647121A>G	(Likely) benign	1 lab	e7311bb19e
18:53298543 TCF4 G>A	18	53298543	53298543	G	A	TCF4	c.272C>T	NM_001243226.3	NP_001230155.2:p.(Thr91Ile)	NC_000018.9:g.53298543G>A	VUS	1 lab	e73338a77c
17:45216141 CDC27 T>G	17	45216141	45216141	T	G	CDC27	c.1686A>C	NM_001114091.4	NP_001107563.1:p.(Ser562=)	NC_000017.10:g.45216141T>G	(Likely) benign	1 lab	e733fabe7f
2:179447815 TTN T>G	2	179447815	179447815	T	G	TTN	c.65715A>C	NM_001267550.2	NP_001254479.2:p.(Lys21905Asn)	NC_000002.11:g.179447815T>G	VUS	1 lab	e734f9c71e
X:114871129 PLS3 T>C	X	114871129	114871129	T	C	PLS3	c.749-19T>C	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114871129T>C	(Likely) benign	1 lab	e7379bacf7
4:190611032 MISSING Ref too long to show for this DEL>C	4	190611032	190957473	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.190611033_190957473del	VUS	1 lab	e73fd48392
17:39919235 JUP C>G	17	39919235	39919235	C	G	JUP	c.1497G>C	NM_002230.4	NP_002221.1:p.(Lys499Asn)	NC_000017.10:g.39919235C>G	VUS	1 lab	e740c8c69e
6:112455815 LAMA4 G>A	6	112455815	112455815	G	A	LAMA4	c.3415-4C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112455815G>A	(Likely) benign	1 lab	e741ba41dc
2:121747520 GLI2 C>T	2	121747520	121747520	C	T	GLI2	c.4030C>T	NM_001371271.1	NP_001358200.1:p.(Leu1344=)	NC_000002.11:g.121747520C>T	(Likely) benign	1 lab	e74491ff3b
15:48760877 FBN1 T>G	15	48760877	48760877	T	G	FBN1	c.4460-146A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760877T>G	(Likely) benign	1 lab	e745f50a26
2:238019959 MISSING T>Alt too long to show for this DUP	2	238019959	238530752	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.238019962_238530752dup	VUS	1 lab	e7466fe0d7
X:55172572 VCF2 G>A	X	55172572	55172572	G	A	VCF2	c.290C>T	NM_001166703.2	NP_001160175.1:p.(Thr97Ile)	NC_000023.10:g.55172572G>A	(Likely) benign	1 lab	e74b0d2654
16:29427213 MISSING Ref too long to show for this DEL>A	16	29427213	30177916	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29427215_30177916del	(Likely) pathogenic	1 lab	e74ce9e74e
2:151324399 MISSING Ref too long to show for this DEL>T	2	151324399	151349510	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.151324400_151349510del	VUS	1 lab	e7517a5d6b
2:25505421 DNMT3A C>T	2	25505421	25505421	C	T	DNMT3A	c.337G>A	NM_022552.5	NP_072046.2:p.(Gly113Arg)	NC_000002.11:g.25505421C>T	VUS	1 lab	e752150854
5:36534610 MISSING G>Alt too long to show for this DUP	5	36534610	36713438	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.36534612_36713438dup	VUS	1 lab	e75228a735
10:124273858 HTRA1 G>A	10	124273858	124273858	G	A	HTRA1	c.1426G>A	NM_002775.5	NP_002766.1:p.(Glu476Lys)	NC_000010.10:g.124273858G>A	(Likely) benign	1 lab	e7575f62a0
17:7907480 GUCY2D C>T	17	7907480	7907480	C	T	GUCY2D	c.1026+6C>T	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7907480C>T	(Likely) benign	1 lab	e7585b50ff
10:112571809 RBM20 C>T	10	112571809	112571809	C	T	RBM20	c.1881-227C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112571809C>T	(Likely) benign	1 lab	e7588ab4dd
7:150644772 KCNH2 G>T	7	150644772	150644772	G	T	KCNH2	c.2887C>A	NM_000238.4	NP_000229.1:p.(Pro963Thr)	NC_000007.13:g.150644772G>T	VUS	1 lab	e758d95441
6:65016980 EYS GA>G	6	65016980	65016981	GA	G	EYS	c.6079-6del	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65016981del	(Likely) benign	1 lab	e759df28b6
6:42146147 GUCA1ANB-GUCA1A G>A	6	42146147	42146147	G	A	GUCA1ANB-GUCA1A	c.331G>A	NM_001319061.2	NP_001305990.1:p.(Glu111Lys)	NC_000006.11:g.42146147G>A	(Likely) pathogenic	1 lab	e75ceed3b9
X:70439000 GJB1 CTTATTA>C	X	70439000	70439038	CTTATTA	C	GJB1	c.-17+3893_-17+3898del	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439033_70439038del	(Likely) benign	1 lab	e75cf1f294
12:133043743 MISSING G>Alt too long to show for this DUP	12	133043743	133114132	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.133043744_133114132dup	VUS	1 lab	e761540857
2:1664685 PXDN G>A	2	1664685	1664685	G	A	PXDN	c.1805C>T	NM_012293.3	NP_036425.1:p.(Ser602Leu)	NC_000002.11:g.1664685G>A	(Likely) benign	1 lab	e763b6ca62
5:133944059 SAR1B T>A	5	133944059	133944059	T	A	SAR1B	c.480+3A>T	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944059T>A	VUS	1 lab	e7663bfddf
6:119238890 MCM9 C>T	6	119238890	119238890	C	T	MCM9	c.740G>A	NM_017696.3	NP_060166.2:p.(Arg247Gln)	NC_000006.11:g.119238890C>T	VUS	1 lab	e7678d596e
7:95750647 SLC25A13 G>A	7	95750647	95750647	G	A	SLC25A13	c.1884C>T	NM_014251.3	NP_055066.1:p.(Asn628=)	NC_000007.13:g.95750647G>A	(Likely) benign	1 lab	e76794f66e
19:11233853 LDLR C>G	19	11233853	11233853	C	G	LDLR	c.2144C>G	NM_000527.5	NP_000518.1:p.(Ala715Gly)	NC_000019.9:g.11233853C>G	(Likely) benign	1 lab	e768363a24
11:121367557 SORL1 CTT>C	11	121367557	121367570	CTT	C	SORL1	c.759-9_759-8del	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121367569_121367570del	(Likely) benign	1 lab	e76d5f54aa
18:53017621 TCF4 ACTTT>A	18	53017621	53017629	ACTTT	A	TCF4	c.514_517del	NM_001243228.2	NP_001230157.1:p.(Lys172PhefsTer67)	NC_000018.9:g.53017626_53017629del	(Likely) pathogenic	1 lab	e76df7e8a1
3:38616796 SCN5A C>T	3	38616796	38616796	C	T	SCN5A	c.3658G>A	NM_198056.3	NP_932173.1:p.(Gly1220Arg)	NC_000003.11:g.38616796C>T	VUS	1 lab	e76f7c6fe8
17:75483644 SEPTIN9 C>T	17	75483644	75483644	C	T	SEPTIN9	c.988+10C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75483644C>T	(Likely) benign	1 lab	e772183cb0
18:45422482 SMAD2 C>T	18	45422482	45422482	C	T	SMAD2	c.236+410G>A	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45422482C>T	(Likely) benign	1 lab	e7752394e1
X:153453453 OPN1MW A>G	X	153453453	153453453	A	G	OPN1MW	c.307A>G	NM_000513.2	NP_000504.1:p.(Thr103Ala)	NC_000023.10:g.153453453A>G	(Likely) benign	1 lab	e7768bdaee
1:63068299 ANGPTL3 G>A	1	63068299	63068299	G	A	ANGPTL3	c.931+248G>A	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63068299G>A	VUS	1 lab	e777f4990d
11:108139164 ATM A>G	11	108139164	108139164	A	G	ATM	c.2666A>G	NM_000051.4	NP_000042.3:p.(Tyr889Cys)	NC_000011.9:g.108139164A>G	VUS	1 lab	e77e715b5c
12:49488108 DHH G>C	12	49488108	49488108	G	C	DHH	c.188C>G	NM_021044.4	NP_066382.1:p.(Ala63Gly)	NC_000012.11:g.49488108G>C	VUS	1 lab	e78083f2b1
8:38297812 FGFR1 C>T	8	38297812	38297812	C	T	FGFR1	c.92-10346G>A	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38297812C>T	(Likely) benign	1 lab	e78153ed7f
17:42427630 GRN TAGTC>T	17	42427630	42427637	TAGTC	T	GRN	c.388_391del	NM_002087.4	NP_002078.1:p.(Gln130SerfsTer125)	NC_000017.10:g.42427634_42427637del	(Likely) pathogenic	1 lab	e787f8cd09
9:138671273 KCNT1 G>A	9	138671273	138671273	G	A	KCNT1	c.2798G>A	NM_020822.3	NP_065873.2:p.(Arg933His)	NC_000009.11:g.138671273G>A	VUS	1 lab	e78938517d
9:87376164 NTRK2 G>GT	9	87376164	87376165	G	GT	NTRK2	c.*11dup	NM_001369547.1	NP_001356476.1:p.?	NC_000009.11:g.87376165dup	(Likely) benign	1 lab	e78aede66a
6:110110554 FIG4 A>C	6	110110554	110110554	A	C	FIG4	c.2097-243A>C	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110110554A>C	(Likely) benign	1 lab	e78b6b171e
16:14788068 MISSING A>Alt too long to show for this DUP	16	14788068	15254257	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.14788070_15254257dup	(Likely) pathogenic	1 lab	e78e7ab7d0
16:50828136 CYLD C>T	16	50828136	50828136	C	T	CYLD	c.2483C>T	NM_015247.3	NP_056062.1:p.(Pro828Leu)	NC_000016.9:g.50828136C>T	VUS	1 lab	e78eed97fe
7:95043299 MISSING Ref too long to show for this DEL>C	7	95043299	95098321	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.95043301_95098321del	VUS	1 lab	e79243bea9
3:53707853 CACNA1D C>T	3	53707853	53707853	C	T	CACNA1D	c.1220+10C>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53707853C>T	(Likely) benign	1 lab	e79503f2cd
1:237604694 RYR2 T>C	1	237604694	237604694	T	C	RYR2	c.1081T>C	NM_001035.3	NP_001026.2:p.(Cys361Arg)	NC_000001.10:g.237604694T>C	VUS	1 lab	e79756c371
19:11040455 MISSING Ref too long to show for this DEL>A	19	11040455	11091024	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.11040457_11091024del	(Likely) pathogenic	1 lab	e7984aecf7
2:179427108 TTN C>T	2	179427108	179427108	C	T	TTN	c.76047G>A	NM_133378.4	NP_596869.4:p.(Lys25349=)	NC_000002.11:g.179427108C>T	(Likely) benign	1 lab	e79b0a47ba
1:12062081 MFN2 C>T	1	12062081	12062081	C	T	MFN2	c.1081C>T	NM_014874.4	NP_055689.1:p.(His361Tyr)	NC_000001.10:g.12062081C>T	(Likely) pathogenic	1 lab	e79db644b5
1:3160665 PRDM16 C>A	1	3160665	3160665	C	A	PRDM16	c.402C>A	NM_022114.4	NP_071397.3:p.(Asp134Glu)	NC_000001.10:g.3160665C>A	(Likely) benign	1 lab	e7a3706948
6:80631457 ELOVL4 T>C	6	80631457	80631457	T	C	ELOVL4	c.426A>G	NM_022726.4	NP_073563.1:p.(Thr142=)	NC_000006.11:g.80631457T>C	(Likely) benign	1 lab	e7a3ff59c7
2:179527707 TTN G>A	2	179527707	179527707	G	A	TTN	c.36776C>T	NM_001267550.2	NP_001254479.2:p.(Ala12259Val)	NC_000002.11:g.179527707G>A	VUS	1 lab	e7a69ece90
1:155630296 YY1AP1 G>C	1	155630296	155630296	G	C	YY1AP1	c.1819C>G	NM_001198903.1	NP_001185832.1:p.(Leu607Val)	NC_000001.10:g.155630296G>C	(Likely) benign	1 lab	e7a7bd4d73
8:144296875 GPIHBP1 G>A	8	144296875	144296875	G	A	GPIHBP1	c.182-13G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296875G>A	(Likely) benign	1 lab	e7ac8f1051
3:123471291 MYLK C>T	3	123471291	123471291	C	T	MYLK	c.260G>A	NM_053025.4	NP_444253.3:p.(Gly87Glu)	NC_000003.11:g.123471291C>T	(Likely) benign	1 lab	e7ad147a47
3:38592381 SCN5A C>T	3	38592381	38592381	C	T	SCN5A	c.5482G>A	NM_198056.3	NP_932173.1:p.(Ala1828Thr)	NC_000003.11:g.38592381C>T	VUS	1 lab	e7aec86372
11:47370471 MYBPC3 A>G	11	47370471	47370471	A	G	MYBPC3	c.655-379T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370471A>G	(Likely) benign	1 lab	e7aff89cca
11:47369116 MYBPC3 A>G	11	47369116	47369116	A	G	MYBPC3	c.851+86T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369116A>G	(Likely) benign	1 lab	e7b1a4784d
10:79776975 MISSING G>Alt too long to show for this DUP	10	79776975	79811380	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.79776976_79811380dup	VUS	1 lab	e7b45be6ca
1:236891156 ACTN2 C>T	1	236891156	236891156	C	T	ACTN2	c.615+100C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236891156C>T	(Likely) benign	1 lab	e7b45c6dfa
7:94044583 COL1A2 GT>G	7	94044583	94044584	GT	G	COL1A2	c.1764+2del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94044584del	(Likely) pathogenic	1 lab	e7b65075e9
9:101909955 TGFBR1 A>G	9	101909955	101909955	A	G	TGFBR1	c.1275A>G	NM_004612.4	NP_004603.1:p.(Gln425=)	NC_000009.11:g.101909955A>G	(Likely) benign	1 lab	e7b667695f
9:107564328 ABCA1 A>G	9	107564328	107564328	A	G	ABCA1	c.4698+7T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564328A>G	(Likely) benign	1 lab	e7b9fde881
3:145790205 PLOD2 G>A	3	145790205	145790205	G	A	PLOD2	c.1848+143C>T	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145790205G>A	(Likely) benign	1 lab	e7bc1cca2d
5:180046758 FLT4 C>T	5	180046758	180046758	C	T	FLT4	c.2554G>A	NM_182925.5	NP_891555.2:p.(Gly852Ser)	NC_000005.9:g.180046758C>T	(Likely) pathogenic	1 lab	e7bdfcc950
19:39066539 RYR1 TTC>T	19	39066539	39066554	TTC	T	RYR1	c.14130-6_14130-5del	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39066553_39066554del	(Likely) benign	1 lab	e7c12aec3a
8:134030168 TG G>A	8	134030168	134030168	G	A	TG	c.6708G>A	NM_003235.5	NP_003226.4:p.(Pro2236=)	NC_000008.10:g.134030168G>A	(Likely) benign	1 lab	e7c3b846fa
X:107979475 IRS4 G>A	X	107979475	107979475	G	A	IRS4	c.100C>T	NM_003604.2	NP_003595.1:p.(Leu34Phe)	NC_000023.10:g.107979475G>A	(Likely) benign	1 lab	e7c3c7fcd9
15:48802581 FBN1 T>C	15	48802581	48802581	T	C	FBN1	c.1589-215A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48802581T>C	(Likely) benign	1 lab	e7c86b0877
1:213046123 FLVCR1 T>TAA	1	213046123	213046128	T	TAA	FLVCR1	c.991_992dup	NM_014053.4	NP_054772.1:p.(Asn331LysfsTer9)	NC_000001.10:g.213046127_213046128dup	(Likely) pathogenic	1 lab	e7c9853939
8:133900495 TG G>A	8	133900495	133900495	G	A	TG	c.2443G>A	NM_003235.5	NP_003226.4:p.(Gly815Arg)	NC_000008.10:g.133900495G>A	(Likely) benign	1 lab	e7caa45c6b
11:46419153 AMBRA1 C>A	11	46419153	46419153	C	A	AMBRA1	c.3753G>T	NM_001267782.2	NP_001254711.1:p.(Leu1251=)	NC_000011.9:g.46419153C>A	(Likely) benign	1 lab	e7cbc6b00f
1:112524479 KCND3 C>A	1	112524479	112524479	C	A	KCND3	c.870G>T	NM_004980.5	NP_004971.2:p.(Arg290=)	NC_000001.10:g.112524479C>A	(Likely) benign	1 lab	e7cd646d44
20:61459315 COL9A3 C>T	20	61459315	61459315	C	T	COL9A3	c.887C>T	NM_001853.4	NP_001844.3:p.(Pro296Leu)	NC_000020.10:g.61459315C>T	(Likely) benign	1 lab	e7cf6955a2
17:57289730 SMG8 G>T	17	57289730	57289730	G	T	SMG8	c.1788G>T	NM_018149.7	NP_060619.4:p.(Pro596=)	NC_000017.10:g.57289730G>T	(Likely) benign	1 lab	e7cfeeccbb
19:45412466 APOE G>A	19	45412466	45412466	G	A	APOE	c.991G>A	NM_001302688.2	NP_001289617.1:p.(Val331Met)	NC_000019.9:g.45412466G>A	VUS	1 lab	e7d2d807ff
18:43445730 EPG5 C>A	18	43445730	43445730	C	A	EPG5	c.6622-6G>T	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43445730C>A	(Likely) benign	1 lab	e7d3c0293e
9:137534497 COL5A1 C>T	9	137534497	137534497	C	T	COL5A1	c.109+355C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137534497C>T	(Likely) benign	1 lab	e7d933ec01
2:21235389 APOB C>T	2	21235389	21235389	C	T	APOB	c.4351G>A	NM_000384.3	NP_000375.3:p.(Gly1451Ser)	NC_000002.11:g.21235389C>T	VUS	1 lab	e7d964baf3
3:37535984 ITGA9 C>G	3	37535984	37535984	C	G	ITGA9	c.545-8C>G	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37535984C>G	(Likely) benign	1 lab	e7da5950c9
12:6952787 GNB3 C>T	12	6952787	6952787	C	T	GNB3	c.431-9C>T	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6952787C>T	(Likely) benign	1 lab	e7df4385a5
11:119212575 C1QTNF5 C>T	11	119212575	119212575	C	T	C1QTNF5	c.-1130G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119212575C>T	(Likely) benign	1 lab	e7df8fec88
7:91682099 AKAP9 A>G	7	91682099	91682099	A	G	AKAP9	c.5428A>G	NM_005751.5	NP_005742.4:p.(Met1810Val)	NC_000007.13:g.91682099A>G	(Likely) benign	1 lab	e7e53eb1c7
6:157454179 ARID1B CAAAG>C	6	157454179	157454186	CAAAG	C	ARID1B	c.104_107del	NM_001363725.2	NP_001350654.1:p.(Arg35ThrfsTer46)	NC_000006.11:g.157454183_157454186del	(Likely) pathogenic	1 lab	e7e674ecc4
11:88924429 TYR C>T	11	88924429	88924429	C	T	TYR	c.879C>T	NM_000372.5	NP_000363.1:p.(Pro293=)	NC_000011.9:g.88924429C>T	(Likely) benign	1 lab	e7e6a2d555
5:175205581 MISSING A>Alt too long to show for this DUP	5	175205581	175324537	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.175205582_175324537dup	VUS	1 lab	e7e8dad036
4:3076603 HTT C>CCAG	4	3076603	3076662	C	CCAG	HTT	c.114_116del	NM_002111.8	NP_002102.4:p.(Gln40del)	NC_000004.11:g.3076660_3076662dup	(Likely) benign	1 lab	e7ec6a66e6
3:134250720 CEP63 G>GA	3	134250720	134250726	G	GA	CEP63	c.262dup	NM_025180.5	NP_079456.2:p.(Ile88AsnfsTer10)	NC_000003.11:g.134250726dup	(Likely) pathogenic	1 lab	e7ec7e79f6
8:30954280 WRN A>T	8	30954280	30954280	A	T	WRN	c.1899-4A>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954280A>T	(Likely) benign	1 lab	e7ed5a51a3
7:128491338 FLNC C>T	7	128491338	128491338	C	T	FLNC	c.5592C>T	NM_001458.5	NP_001449.3:p.(Ala1864=)	NC_000007.13:g.128491338C>T	(Likely) benign	1 lab	e7ed843285
12:82705314 MISSING Ref too long to show for this DEL>T	12	82705314	82769159	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.82705316_82769159del	VUS	1 lab	e7f0e3fad6
2:44053596 ABCG5 G>T	2	44053596	44053596	G	T	ABCG5	c.699C>A	NM_022436.3	NP_071881.1:p.(Val233=)	NC_000002.11:g.44053596G>T	(Likely) benign	1 lab	e7f27d6909
19:11238731 LDLR G>A	19	11238731	11238731	G	A	LDLR	c.2359G>A	NM_000527.5	NP_000518.1:p.(Val787Met)	NC_000019.9:g.11238731G>A	VUS	1 lab	e7f483573a
3:75788114 ZNF717 C>T	3	75788114	75788114	C	T	ZNF717	c.660G>A	NM_001128223.3	NP_001121695.1:p.(Thr220=)	NC_000003.11:g.75788114C>T	(Likely) benign	1 lab	e7f7b4914c
16:15818356 MYH11 G>C	16	15818356	15818356	G	C	MYH11	c.4117-90C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15818356G>C	(Likely) benign	1 lab	e8017bf9b8
19:11238328 LDLR G>A	19	11238328	11238328	G	A	LDLR	c.2312-356G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238328G>A	(Likely) benign	1 lab	e802444178
4:158234184 MISSING T>Alt too long to show for this DUP	4	158234184	158293013	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.158234185_158293013dup	VUS	1 lab	e803020074
12:41133595 CNTN1 Ref too long to show for this DEL>A	12	41133595	41298617	Ref too long to show for this DEL	A	CNTN1	c.-77+47202_-76-3542del	NM_001843.4	NP_001834.2:p.?	NC_000012.11:g.41133596_41298617del	VUS	1 lab	e807c359f9
20:238399 MISSING Ref too long to show for this DEL>C	20	238399	485893	Ref too long to show for this DEL	C	MISSING				NC_000020.10:g.238400_485893del	(Likely) pathogenic	1 lab	e80c30c4e1
X:107979512 IRS4 C>T	X	107979512	107979512	C	T	IRS4	c.63G>A	NM_003604.2	NP_003595.1:p.(Ala21=)	NC_000023.10:g.107979512C>T	(Likely) benign	1 lab	e80c449a9f
15:63335049 TPM1 G>A	15	63335049	63335049	G	A	TPM1	c.21G>A	NM_001365776.1	NP_001352705.1:p.(Lys7=)	NC_000015.9:g.63335049G>A	(Likely) benign	1 lab	e80cc4f278
12:977290 WNK1 G>T	12	977290	977290	G	T	WNK1	c.2398G>T	NM_001184985.2	NP_001171914.1:p.(Val800Phe)	NC_000012.11:g.977290G>T	VUS	1 lab	e8107f7785
X:29655007 IL1RAPL1 Ref too long to show for this DEL>T	X	29655007	29662601	Ref too long to show for this DEL	T	IL1RAPL1	c.704-31539_704-23946del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29655008_29662601del	VUS	1 lab	e815ad27f6
15:77096990 SCAPER C>CA	15	77096990	77096999	C	CA	SCAPER	c.394-17dup	NM_001353009.2	NP_001339938.1:p.?	NC_000015.9:g.77096999dup	(Likely) benign	1 lab	e817a3d1f4
2:179603062 TTN G>A	2	179603062	179603062	G	A	TTN	c.14118C>T	NM_001267550.2	NP_001254479.2:p.(Ile4706=)	NC_000002.11:g.179603062G>A	(Likely) benign	1 lab	e81956703a
Y:16952347 NLGN4Y T>C	Y	16952347	16952347	T	C	NLGN4Y	c.1656T>C	NM_014893.5	NP_055708.3:p.(Asn552=)	NC_000024.9:g.16952347T>C	(Likely) benign	1 lab	e81aaa8e04
9:135202889 SETX A>G	9	135202889	135202889	A	G	SETX	c.4096T>C	NM_015046.7	NP_055861.3:p.(Ser1366Pro)	NC_000009.11:g.135202889A>G	(Likely) benign	1 lab	e81bad2349
9:107548722 ABCA1 A>G	9	107548722	107548722	A	G	ABCA1	c.6309-51T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548722A>G	(Likely) benign	1 lab	e81d82c41b
1:225707271 ENAH G>GA	1	225707271	225707287	G	GA	ENAH	c.435-5dup	NM_001008493.3	NP_001008493.1:p.?	NC_000001.10:g.225707287dup	(Likely) benign	1 lab	e820e8d49f
16:16306059 ABCC6 C>T	16	16306059	16306059	C	T	ABCC6	c.645G>A	NM_001171.6	NP_001162.5:p.(Thr215=)	NC_000016.9:g.16306059C>T	(Likely) benign	1 lab	e8224d1b23
15:44900777 SPG11 GTTTTCA>G	15	44900777	44900788	GTTTTCA	G	SPG11	c.3312_3317del	NM_025137.4	NP_079413.3:p.(Glu1105_Asn1106del)	NC_000015.9:g.44900783_44900788del	VUS	1 lab	e8256d6cb3
8:100833506 VPS13B G>A	8	100833506	100833506	G	A	VPS13B	c.9070-16G>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100833506G>A	(Likely) benign	1 lab	e82866fe11
10:92678667 ANKRD1 T>C	10	92678667	92678667	T	C	ANKRD1	c.408A>G	NM_014391.3	NP_055206.2:p.(Val136=)	NC_000010.10:g.92678667T>C	(Likely) benign	1 lab	e828702da5
20:10639683 JAG1 G>A	20	10639683	10639683	G	A	JAG1	c.440-313C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639683G>A	(Likely) benign	1 lab	e8293ca802
2:179572417 TTN G>T	2	179572417	179572417	G	T	TTN	c.28877C>A	NM_001267550.2	NP_001254479.2:p.(Ala9626Asp)	NC_000002.11:g.179572417G>T	VUS	1 lab	e82bc94732
2:1497831 TPO G>A	2	1497831	1497831	G	A	TPO	c.2006+20G>A	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1497831G>A	(Likely) benign	1 lab	e83098163f
18:58039564 MC4R G>A	18	58039564	58039564	G	A	MC4R	c.19C>T	NM_005912.3	NP_005903.2:p.(Arg7Cys)	NC_000018.9:g.58039564G>A	VUS	1 lab	e8361972b0
X:154952240 MISSING C>Alt too long to show for this DUP	X	154952240	155233732	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154952242_155233732dup	(Likely) pathogenic	1 lab	e83876bb5d
2:179605470 TTN C>T	2	179605470	179605470	C	T	TTN	c.12490G>A	NM_001267550.2	NP_001254479.2:p.(Glu4164Lys)	NC_000002.11:g.179605470C>T	VUS	1 lab	e83ad42d74
19:11216112 LDLR C>G	19	11216112	11216112	C	G	LDLR	c.530C>G	NM_000527.5	NP_000518.1:p.(Ser177Trp)	NC_000019.9:g.11216112C>G	(Likely) pathogenic	1 lab	e83c72f11e
2:179296799 PRKRA A>Alt too long to show for this DUP	2	179296799	179308052	A	Alt too long to show for this DUP	PRKRA	c.456_*24dup	NM_003690.5	NP_003681.1:p.(Glu9GlufsTer?)	NC_000002.11:g.179296800_179308052dup	VUS	1 lab	e83d6c6950
3:37560735 ITGA9 G>GT	3	37560735	37560742	G	GT	ITGA9	c.1142-9dup	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37560742dup	(Likely) benign	1 lab	e8409556a3
12:49374389 WNT1 G>A	12	49374389	49374389	G	A	WNT1	c.541G>A	NM_005430.4	NP_005421.1:p.(Gly181Ser)	NC_000012.11:g.49374389G>A	VUS	1 lab	e8423b9451
5:179263444 SQSTM1 C>CCG	5	179263444	179263448	C	CCG	SQSTM1	c.1177_1178dup	NM_003900.5	NP_003891.1:p.(Leu394GlyfsTer2)	NC_000005.9:g.179263447_179263448dup	(Likely) pathogenic	1 lab	e844a5ba75
4:190878583 FRG1 T>C	4	190878583	190878583	T	C	FRG1	c.463T>C	NM_004477.3	NP_004468.1:p.(Cys155Arg)	NC_000004.11:g.190878583T>C	(Likely) benign	1 lab	e8485c117e
20:464726 CSNK2A1 A>ATCACATTGGC	20	464726	464727	A	ATCACATTGGC	CSNK2A1	c.1061-7_1061-6insGCCAATGTGA	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.464726_464727insTCACATTGGC	(Likely) benign	1 lab	e848b1be40
9:107620457 ABCA1 CT>C	9	107620457	107620468	CT	C	ABCA1	c.720+345del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620468del	(Likely) benign	1 lab	e849b4d2a7
7:100416250 EPHB4 A>G	7	100416250	100416250	A	G	EPHB4	c.1314T>C	NM_004444.5	NP_004435.3:p.(Ser438=)	NC_000007.13:g.100416250A>G	(Likely) benign	1 lab	e84de70c89
16:87678237 JPH3 C>T	16	87678237	87678237	C	T	JPH3	c.756C>T	NM_020655.4	NP_065706.2:p.(Thr252=)	NC_000016.9:g.87678237C>T	(Likely) benign	1 lab	e84e5d986b
5:82837910 VCAN G>A	5	82837910	82837910	G	A	VCAN	c.9088G>A	NM_004385.5	NP_004376.2:p.(Glu3030Lys)	NC_000005.9:g.82837910G>A	(Likely) benign	1 lab	e84ea18bd0
1:168066359 GPR161 G>A	1	168066359	168066359	G	A	GPR161	c.486C>T	NM_001349632.1	NP_001336561.1:p.(Pro162=)	NC_000001.10:g.168066359G>A	(Likely) benign	1 lab	e850e3e43d
15:85410718 ALPK3 C>G	15	85410718	85410718	C	G	ALPK3	c.4772+122C>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410718C>G	(Likely) benign	1 lab	e857cd5f5b
16:89849446 FANCA G>A	16	89849446	89849446	G	A	FANCA	c.1535C>T	NM_000135.4	NP_000126.2:p.(Ser512Leu)	NC_000016.9:g.89849446G>A	(Likely) benign	1 lab	e858adc5f2
16:57016079 CETP C>T	16	57016079	57016079	C	T	CETP	c.1251C>T	NM_000078.3	NP_000069.2:p.(Ser417=)	NC_000016.9:g.57016079C>T	(Likely) benign	1 lab	e858d41919
7:100637073 MUC12 C>T	7	100637073	100637073	C	T	MUC12	c.3229C>T	NM_001164462.1	NP_001157934.1:p.(Arg1077Cys)	NC_000007.13:g.100637073C>T	(Likely) benign	1 lab	e858e31d21
2:21251326 APOB T>G	2	21251326	21251326	T	G	APOB	c.1702A>C	NM_000384.3	NP_000375.3:p.(Ser568Arg)	NC_000002.11:g.21251326T>G	VUS	1 lab	e85c0e01f3
X:70443956 GJB1 G>A	X	70443956	70443956	G	A	GJB1	c.399G>A	NM_000166.6	NP_000157.1:p.(Trp133Ter)	NC_000023.10:g.70443956G>A	(Likely) pathogenic	1 lab	e85c5870de
19:11213463 LDLR G>T	19	11213463	11213463	G	T	LDLR	c.313+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213463G>T	(Likely) pathogenic	1 lab	e85e3d55af
19:11213462 LDLR C>T	19	11213462	11213462	C	T	LDLR	c.313C>T	NM_000527.5	NP_000518.1:p.(Pro105Ser)	NC_000019.9:g.11213462C>T	VUS	1 lab	e85f66a1c4
6:100838889 SIM1 C>T	6	100838889	100838889	C	T	SIM1	c.1649G>A	NM_005068.3	NP_005059.2:p.(Arg550His)	NC_000006.11:g.100838889C>T	VUS	1 lab	e860d436b9
11:102056738 YAP1 C>T	11	102056738	102056738	C	T	YAP1	c.689-11C>T	NM_001282101.2	NP_001269030.1:p.?	NC_000011.9:g.102056738C>T	(Likely) benign	1 lab	e861956b63
11:76823736 CAPN5 C>T	11	76823736	76823736	C	T	CAPN5	c.399C>T	NM_004055.5	NP_004046.2:p.(Asp133=)	NC_000011.9:g.76823736C>T	(Likely) benign	1 lab	e862b8b142
11:2292080 MISSING G>A	11	2292080	2292080	G	A	MISSING				NC_000011.9:g.2292080G>A	(Likely) benign	1 lab	e862d8cb64
16:57004926 CETP T>A	16	57004926	57004926	T	A	CETP	c.528-19T>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57004926T>A	VUS	1 lab	e867a60379
11:47357837 MYBPC3 A>G	11	47357837	47357837	A	G	MYBPC3	c.2603-275T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357837A>G	(Likely) benign	1 lab	e86815560c
9:107602597 ABCA1 A>G	9	107602597	107602597	A	G	ABCA1	c.1017T>C	NM_005502.4	NP_005493.2:p.(Thr339=)	NC_000009.11:g.107602597A>G	(Likely) benign	1 lab	e86982356b
19:8200828 FBN3 G>C	19	8200828	8200828	G	C	FBN3	c.1591+17C>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8200828G>C	(Likely) benign	1 lab	e870c678b6
11:48709714 MISSING Ref too long to show for this DEL>A	11	48709714	50595389	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.48709715_50595389del	VUS	1 lab	e872ef91c0
3:133661352 SLCO2A1 G>T	3	133661352	133661352	G	T	SLCO2A1	c.1625+97C>A	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133661352G>T	(Likely) benign	1 lab	e875604412
8:19805759 LPL A>G	8	19805759	19805759	A	G	LPL	c.157A>G	NM_000237.3	NP_000228.1:p.(Thr53Ala)	NC_000008.10:g.19805759A>G	VUS	1 lab	e8757fe483
3:37061802 MLH1 T>C	3	37061802	37061802	T	C	MLH1	c.886T>C	NM_000249.4	NP_000240.1:p.(Leu296=)	NC_000003.11:g.37061802T>C	(Likely) benign	1 lab	e877147eca
15:72104744 NR2E3 C>G	15	72104744	72104744	C	G	NR2E3	c.640C>G	NM_016346.4	NP_057430.1:p.(Pro214Ala)	NC_000015.9:g.72104744C>G	VUS	1 lab	e8790c8418
20:60886123 LAMA5 C>T	20	60886123	60886123	C	T	LAMA5	c.10116G>A	NM_005560.6	NP_005551.3:p.(Pro3372=)	NC_000020.10:g.60886123C>T	(Likely) benign	1 lab	e8793ff1e5
15:22770418 MISSING Ref too long to show for this DEL>A	15	22770418	23283811	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770421_23283811del	(Likely) pathogenic	1 lab	e8796f46b5
6:18472515 MISSING A>Alt too long to show for this DUP	6	18472515	18505122	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.18472516_18505122dup	VUS	1 lab	e87a7f3719
2:47693846 MSH2 A>G	2	47693846	47693846	A	G	MSH2	c.1560A>G	NM_000251.3	NP_000242.1:p.(Gly520=)	NC_000002.11:g.47693846A>G	(Likely) benign	1 lab	e87a98d938
11:47366435 MYBPC3 G>A	11	47366435	47366435	G	A	MYBPC3	c.1091-1260C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366435G>A	(Likely) benign	1 lab	e87f880654
12:88496672 CEP290 G>A	12	88496672	88496672	G	A	CEP290	c.2934C>T	NM_025114.4	NP_079390.3:p.(Asp978=)	NC_000012.11:g.88496672G>A	(Likely) benign	1 lab	e88210df53
2:179465996 TTN C>T	2	179465996	179465996	C	T	TTN	c.55728G>A	NM_001267550.2	NP_001254479.2:p.(Pro18576=)	NC_000002.11:g.179465996C>T	(Likely) benign	1 lab	e8828ab8f3
1:43220601 P3H1 G>A	1	43220601	43220601	G	A	P3H1	c.1284C>T	NM_022356.4	NP_071751.3:p.(Ile428=)	NC_000001.10:g.43220601G>A	(Likely) benign	1 lab	e88b7a9905
19:49686003 TRPM4 G>C	19	49686003	49686003	G	C	TRPM4	c.1432G>C	NM_017636.4	NP_060106.2:p.(Asp478His)	NC_000019.9:g.49686003G>C	VUS	1 lab	e88ce1285b
1:55522741 PCSK9 C>CCTGT	1	55522741	55522744	C	CCTGT	PCSK9	c.997-261_997-260insGTCT	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522743_55522744insGTCT	(Likely) benign	1 lab	e88e45662e
5:32712787 NPR3 G>A	5	32712787	32712787	G	A	NPR3	c.769+136G>A	NM_000908.4	NP_000899.1:p.?	NC_000005.9:g.32712787G>A	(Likely) benign	1 lab	e896bd3187
2:179616617 TTN G>A	2	179616617	179616617	G	A	TTN	c.10510C>T	NM_133379.5	NP_596870.2:p.(Pro3504Ser)	NC_000002.11:g.179616617G>A	VUS	1 lab	e89882476f
16:67976809 LCAT C>T	16	67976809	67976809	C	T	LCAT	c.382G>A	NM_000229.2	NP_000220.1:p.(Gly128Ser)	NC_000016.9:g.67976809C>T	VUS	1 lab	e8add428e2
22:19492445 CDC45 Ref too long to show for this DEL>G	22	19492445	19499240	Ref too long to show for this DEL	G	CDC45	c.705-438_1217+3026del	NM_003504.5	NP_003495.1:p.?	NC_000022.10:g.19492447_19499240del	VUS	1 lab	e89a93afa2
16:30094965 PPP4C C>T	16	30094965	30094965	C	T	PPP4C	c.478-11C>T	NM_002720.3	NP_002711.1:p.?	NC_000016.9:g.30094965C>T	(Likely) benign	1 lab	e8a009ed22
2:21239855 APOB C>CAAA	2	21239855	21239861	C	CAAA	APOB	c.3122-337_3122-335dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239859_21239861dup	(Likely) benign	1 lab	e8a0e27505
12:124330542 DNAH10 C>A	12	124330542	124330542	C	A	DNAH10	c.5301C>A	NM_207437.3	NP_997320.2:p.(Asp1767Glu)	NC_000012.11:g.124330542C>A	(Likely) benign	1 lab	e8a1c6c57e
19:54625864 PRPF31 C>T	19	54625864	54625864	C	T	PRPF31	c.323-12C>T	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54625864C>T	(Likely) benign	1 lab	e8a285b801
20:49520488 ADNP G>C	20	49520488	49520488	G	C	ADNP	c.46C>G	NM_015339.5	NP_056154.1:p.(Arg16Gly)	NC_000020.10:g.49520488G>C	VUS	1 lab	e8a2c18600
11:108128278 ATM G>A	11	108128278	108128278	G	A	ATM	c.2321G>A	NM_000051.4	NP_000042.3:p.(Gly774Asp)	NC_000011.9:g.108128278G>A	VUS	1 lab	e8a35f84e9
15:75557963 GOLGA6C A>C	15	75557963	75557963	A	C	GOLGA6C	c.765A>C	NM_001164404.1	NP_001157876.1:p.(Arg255=)	NC_000015.9:g.75557963A>C	(Likely) benign	1 lab	e8a63fb3e6
12:30790133 IPO8 G>GA	12	30790133	30790135	G	GA	IPO8	c.2490-13dup	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30790135dup	(Likely) benign	1 lab	e8addb1bcc
9:107556747 ABCA1 GA>G	9	107556747	107556748	GA	G	ABCA1	c.5426del	NM_005502.4	NP_005493.2:p.(Ile1809ThrfsTer15)	NC_000009.11:g.107556748del	(Likely) pathogenic	1 lab	e8b3e1a031
X:148048317 AFF2 C>G	X	148048317	148048317	C	G	AFF2	c.2914-3C>G	NM_002025.4	NP_002016.2:p.?	NC_000023.10:g.148048317C>G	VUS	1 lab	e8b49afb40
2:21225946 APOB A>G	2	21225946	21225946	A	G	APOB	c.12348T>C	NM_000384.3	NP_000375.3:p.(Tyr4116=)	NC_000002.11:g.21225946A>G	(Likely) benign	1 lab	e8b5abf961
2:152473986 NEB CAAAAA>C	2	152473986	152474002	CAAAAA	C	NEB	c.11077-9_11077-5del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152473998_152474002del	(Likely) benign	1 lab	e8b6445d08
12:7048093 ATN1 C>G	12	7048093	7048093	C	G	ATN1	c.2967C>G	NM_001007026.2	NP_001007027.1:p.(Phe989Leu)	NC_000012.11:g.7048093C>G	(Likely) benign	1 lab	e8b88fdc4e
2:179413513 TTN A>G	2	179413513	179413513	A	G	TTN	c.92840T>C	NM_001267550.2	NP_001254479.2:p.(Ile30947Thr)	NC_000002.11:g.179413513A>G	VUS	1 lab	e8b905a5a7
12:21358927 SLCO1B1 T>C	12	21358927	21358927	T	C	SLCO1B1	c.1457T>C	NM_006446.5	NP_006437.3:p.(Leu486Pro)	NC_000012.11:g.21358927T>C	(Likely) benign	1 lab	e8bc0a90c7
X:38164008 RPGR C>T	X	38164008	38164008	C	T	RPGR	c.814G>A	NM_001034853.2	NP_001030025.1:p.(Gly272Ser)	NC_000023.10:g.38164008C>T	(Likely) pathogenic	1 lab	e8bf551e98
21:47549629 COL6A2 T>A	21	47549629	47549629	T	A	COL6A2	c.*787T>A	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47549629T>A	(Likely) benign	1 lab	e9e2f161d0
2:207012255 NDUFS1 C>G	2	207012255	207012255	C	G	NDUFS1	c.551G>C	NM_005006.7	NP_004997.4:p.(Arg184Thr)	NC_000002.11:g.207012255C>G	VUS	1 lab	e8c8df0bba
9:135203687 SETX T>C	9	135203687	135203687	T	C	SETX	c.3298A>G	NM_001351527.2	NP_001338456.1:p.(Asn1100Asp)	NC_000009.11:g.135203687T>C	VUS	1 lab	e8cb907243
17:41245580 BRCA1 G>A	17	41245580	41245580	G	A	BRCA1	c.1968C>T	NM_007294.4	NP_009225.1:p.(Asn656=)	NC_000017.10:g.41245580G>A	(Likely) benign	1 lab	e8cf2ae7c5
20:41169162 PTPRT Ref too long to show for this DEL>A	20	41169162	41433940	Ref too long to show for this DEL	A	PTPRT	c.215-13833_1154-67961del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41169164_41433940del	VUS	1 lab	e8d19f0176
X:149231482 MISSING C>Alt too long to show for this DUP	X	149231482	149840217	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.149231483_149840217dup	(Likely) pathogenic	1 lab	e8d2482e42
7:117251619 CFTR T>A	7	117251619	117251619	T	A	CFTR	c.3140-16T>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117251619T>A	VUS	1 lab	e8d2b12cda
18:47108863 LIPG C>A	18	47108863	47108863	C	A	LIPG	c.1157+11C>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108863C>A	(Likely) benign	1 lab	e8d605c8ae
6:42146559 GUCA1A C>T	6	42146559	42146559	C	T	GUCA1A	c.371C>T	NM_001384910.1	NP_001371839.1:p.(Pro124Leu)	NC_000006.11:g.42146559C>T	VUS	1 lab	e8d6ad3201
1:214815609 CENPF C>G	1	214815609	214815609	C	G	CENPF	c.3928C>G	NM_016343.4	NP_057427.3:p.(Leu1310Val)	NC_000001.10:g.214815609C>G	VUS	1 lab	e8d7d0e7f8
2:179430060 TTN-AS1 G>T	2	179430060	179430060	G	T	TTN-AS1	n.2044-17239G>T	NR_038272.1		NC_000002.11:g.179430060G>T	(Likely) benign	1 lab	e8d809d888
12:125284747 SCARB1 C>T	12	125284747	125284747	C	T	SCARB1	c.1051G>A	NM_001367981.1	NP_001354910.1:p.(Asp351Asn)	NC_000012.11:g.125284747C>T	VUS	1 lab	e8dc2c32e6
7:116409676 MET T>A	7	116409676	116409676	T	A	MET	c.2638-23T>A	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116409676T>A	(Likely) benign	1 lab	e8dda5a3f8
7:103205949 RELN G>C	7	103205949	103205949	G	C	RELN	c.4986C>G	NM_005045.4	NP_005036.2:p.(Thr1662=)	NC_000007.13:g.103205949G>C	(Likely) benign	1 lab	e8ddc413f6
3:196463759 PAK2 Ref too long to show for this DEL>C	3	196463759	196552147	Ref too long to show for this DEL	C	PAK2				NC_000003.11:g.196463760_196552147del	VUS	1 lab	e8de35720a
6:73110335 RIMS1 T>C	6	73110335	73110335	T	C	RIMS1	c.4998T>C	NM_014989.6	NP_055804.2:p.(Asp1666=)	NC_000006.11:g.73110335T>C	(Likely) benign	1 lab	e8e655c57b
9:107581846 ABCA1 G>C	9	107581846	107581846	G	C	ABCA1	c.3241+21C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107581846G>C	VUS	1 lab	e8e761a2ea
9:107665977 ABCA1 CCCCCAGCGTGTGGCTCGG>C	9	107665977	107665995	CCCCCAGCGTGTGGCTCGG	C	ABCA1	c.-35_-18del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665978_107665995del	(Likely) benign	1 lab	e8e788e346
16:1020795 LMF1 G>A	16	1020795	1020795	G	A	LMF1	c.186C>T	NM_022773.4	NP_073610.2:p.(Phe62=)	NC_000016.9:g.1020795G>A	(Likely) benign	1 lab	e8e7d2dffa
8:59404016 CYP7A1 CT>C	8	59404016	59404018	CT	C	CYP7A1	c.*17del	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404018del	(Likely) benign	1 lab	e8ea0087a5
19:11227603 LDLR G>A	19	11227603	11227603	G	A	LDLR	c.1774G>A	NM_000527.5	NP_000518.1:p.(Gly592Arg)	NC_000019.9:g.11227603G>A	(Likely) pathogenic	1 lab	e8ea07a5bd
22:50885738 SBF1 G>C	22	50885738	50885738	G	C	SBF1	c.5583+13C>G	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50885738G>C	(Likely) benign	1 lab	e8eafcf233
2:1983327 MYT1L C>T	2	1983327	1983327	C	T	MYT1L	c.56-1G>A	NM_015025.4	NP_055840.2:p.?	NC_000002.11:g.1983327C>T	(Likely) pathogenic	1 lab	e8ec8ccd1e
1:180794474 XPR1 A>G	1	180794474	180794474	A	G	XPR1	c.1128A>G	NM_004736.4	NP_004727.2:p.(Lys376=)	NC_000001.10:g.180794474A>G	(Likely) benign	1 lab	e8ef96dad9
14:64606654 SYNE2 G>C	14	64606654	64606654	G	C	SYNE2	c.14844-5G>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64606654G>C	(Likely) benign	1 lab	e8f0cbf851
9:139390984 NOTCH1 G>A	9	139390984	139390984	G	A	NOTCH1	c.7207C>T	NM_017617.5	NP_060087.3:p.(Gln2403Ter)	NC_000009.11:g.139390984G>A	VUS	1 lab	e8f259f773
7:128486100 FLNC A>G	7	128486100	128486100	A	G	FLNC	c.3847A>G	NM_001458.5	NP_001449.3:p.(Thr1283Ala)	NC_000007.13:g.128486100A>G	VUS	1 lab	e8f3e0ade5
6:126075698 HEY2 T>C	6	126075698	126075698	T	C	HEY2	c.328+6T>C	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075698T>C	(Likely) benign	1 lab	e8f4439c99
18:57103383 CCBE1 T>C	18	57103383	57103383	T	C	CCBE1	c.988-10A>G	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57103383T>C	(Likely) benign	1 lab	e8fad01700
20:33507379 ACSS2 AGTGTGT>A	20	33507379	33507423	AGTGTGT	A	ACSS2	c.1011+43_1011+48del	NM_001076552.3	NP_001070020.2:p.?	NC_000020.10:g.33507418_33507423del	(Likely) benign	1 lab	e8fb9e18c6
14:99976645 CCNK A>C	14	99976645	99976645	A	C	CCNK	c.1269A>C	NM_001099402.2	NP_001092872.1:p.(Pro423=)	NC_000014.8:g.99976645A>C	(Likely) benign	1 lab	e8fc36711b
15:40327290 EIF2AK4 A>G	15	40327290	40327290	A	G	EIF2AK4	c.*5A>G	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40327290A>G	(Likely) benign	1 lab	e8fc9a85a8
1:244218520 ZBTB18 C>T	1	244218520	244218520	C	T	ZBTB18	c.1417C>T	NM_006352.4	NP_006343.2:p.(Arg473Cys)	NC_000001.10:g.244218520C>T	(Likely) pathogenic	1 lab	e8fd6ee9b1
2:44040383 ABCG5 C>G	2	44040383	44040383	C	G	ABCG5	c.1828G>C	NM_022436.3	NP_071881.1:p.(Glu610Gln)	NC_000002.11:g.44040383C>G	VUS	1 lab	e8ffa8b1b6
9:137593382 COL5A1 G>A	9	137593382	137593382	G	A	COL5A1	c.654+203G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593382G>A	(Likely) benign	1 lab	e902983703
10:90988005 LIPA C>T	10	90988005	90988005	C	T	LIPA	c.380G>A	NM_000235.4	NP_000226.2:p.(Arg127Gln)	NC_000010.10:g.90988005C>T	(Likely) pathogenic	1 lab	e90493505d
16:89315652 MISSING Ref too long to show for this DEL>G	16	89315652	89350990	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.89315653_89350990del	(Likely) pathogenic	1 lab	e904c4b6d1
12:21392104 SLCO1B1 A>T	12	21392104	21392104	A	T	SLCO1B1	c.2057A>T	NM_006446.5	NP_006437.3:p.(Asp686Val)	NC_000012.11:g.21392104A>T	(Likely) benign	1 lab	e90544870a
2:21230746 APOB G>A	2	21230746	21230746	G	A	APOB	c.8994C>T	NM_000384.3	NP_000375.3:p.(Gly2998=)	NC_000002.11:g.21230746G>A	(Likely) benign	1 lab	e906f90f5b
9:135211769 SETX T>C	9	135211769	135211769	T	C	SETX	c.632A>G	NM_001351527.2	NP_001338456.1:p.(Tyr211Cys)	NC_000009.11:g.135211769T>C	VUS	1 lab	e9098921a8
X:154946914 MISSING T>Alt too long to show for this DUP	X	154946914	155233731	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154946915_155233731dup	(Likely) pathogenic	1 lab	e909d7014e
17:48264489 COL1A1 G>T	17	48264489	48264489	G	T	COL1A1	c.3424-6C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48264489G>T	(Likely) benign	1 lab	e90a50d028
12:32974365 PKP2 G>A	12	32974365	32974365	G	A	PKP2	c.2070C>T	NM_004572.4	NP_004563.2:p.(Ile690=)	NC_000012.11:g.32974365G>A	(Likely) benign	1 lab	e90aea1dc0
10:102495480 PAX2 G>T	10	102495480	102495480	G	T	PAX2	c.15G>T	NM_001304569.2	NP_001291498.1:p.(Ala5=)	NC_000010.10:g.102495480G>T	(Likely) benign	1 lab	e90b703687
4:100534050 MTTP A>G	4	100534050	100534050	A	G	MTTP	c.1990-20A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534050A>G	(Likely) benign	1 lab	e90dcd5dc6
2:44101033 ABCG8 G>T	2	44101033	44101033	G	T	ABCG8	c.1319G>T	NM_022437.3	NP_071882.1:p.(Ser440Ile)	NC_000002.11:g.44101033G>T	(Likely) benign	1 lab	e912d449a0
X:70439000 GJB1 CTTA>C	X	70439000	70439038	CTTA	C	GJB1	c.-17+3896_-17+3898del	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439036_70439038del	(Likely) benign	1 lab	e91491e095
17:43695363 MISSING Ref too long to show for this DEL>G	17	43695363	44212416	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.43695364_44212416del	(Likely) pathogenic	1 lab	e91fb24fab
1:145632331 MISSING Ref too long to show for this DEL>T	1	145632331	145833054	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.145632334_145833054del	VUS	1 lab	e91fcd2e4b
19:11213460 LDLR G>A	19	11213460	11213460	G	A	LDLR	c.311G>A	NM_000527.5	NP_000518.1:p.(Cys104Tyr)	NC_000019.9:g.11213460G>A	(Likely) pathogenic	1 lab	e92da1bd63
5:12675351 MISSING Ref too long to show for this DEL>A	5	12675351	17328443	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.12675352_17328443del	(Likely) pathogenic	1 lab	e9302703d3
8:10467333 RP1L1 G>T	8	10467333	10467333	G	T	RP1L1	c.4275C>A	NM_178857.6	NP_849188.4:p.(Asp1425Glu)	NC_000008.10:g.10467333G>T	(Likely) benign	1 lab	e9313b4747
17:59878823 BRIP1 A>G	17	59878823	59878823	A	G	BRIP1	c.931T>C	NM_032043.3	NP_114432.2:p.(Tyr311His)	NC_000017.10:g.59878823A>G	VUS	1 lab	e931e3e414
8:144941611 EPPK1 G>A	8	144941611	144941611	G	A	EPPK1	c.5811C>T	NM_031308.4	NP_112598.3:p.(Thr1937=)	NC_000008.10:g.144941611G>A	(Likely) benign	1 lab	e9333493cc
2:179455681 TTN G>A	2	179455681	179455681	G	A	TTN	c.60771C>T	NM_001267550.2	NP_001254479.2:p.(Pro20257=)	NC_000002.11:g.179455681G>A	(Likely) benign	1 lab	e9337c394a
X:54209617 FAM120C G>A	X	54209617	54209617	G	A	FAM120C	c.15C>T	NM_017848.6	NP_060318.4:p.(Gly5=)	NC_000023.10:g.54209617G>A	(Likely) benign	1 lab	e93537bc29
19:2112908 AP3D1 G>A	19	2112908	2112908	G	A	AP3D1	c.2738C>T	NM_001261826.3	NP_001248755.1:p.(Thr913Met)	NC_000019.9:g.2112908G>A	VUS	1 lab	e9358d6572
8:92406436 SLC26A7 CT>C	8	92406436	92406443	CT	C	SLC26A7	c.1935+176del	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92406443del	(Likely) benign	1 lab	e935b8edd2
14:23868200 MYH6 T>C	14	23868200	23868200	T	C	MYH6	c.1628A>G	NM_002471.4	NP_002462.2:p.(Lys543Arg)	NC_000014.8:g.23868200T>C	VUS	1 lab	e936965445
2:179543498 TTN T>C	2	179543498	179543498	T	C	TTN	c.33802A>G	NM_001267550.2	NP_001254479.2:p.(Lys11268Glu)	NC_000002.11:g.179543498T>C	VUS	1 lab	e93bf15640
2:179519694 TTN A>AGGCTTTTTAGGAGGAGGCACTGGCACTGGCACT	2	179519694	179519697	A	AGGCTTTTTAGGAGGAGGCACTGGCACTGGCACT	TTN	c.31742-2427_31742-2426insAGTGCCAGTGCCAGTGCCTCCTCCTAAAAAGCC	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179519696_179519697insCTTTTTAGGAGGAGGCACTGGCACTGGCACTGG	(Likely) benign	1 lab	e93d4e66a5
1:55509836 PCSK9 T>C	1	55509836	55509836	T	C	PCSK9	c.399+129T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509836T>C	(Likely) benign	1 lab	e93ea2b8c1
1:27210791 MISSING Ref too long to show for this DEL>G	1	27210791	27225598	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.27210794_27225598del	VUS	1 lab	e93fc7573b
5:149360143 SLC26A2 T>C	5	149360143	149360143	T	C	SLC26A2	c.987T>C	NM_000112.4	NP_000103.2:p.(Leu329=)	NC_000005.9:g.149360143T>C	(Likely) benign	1 lab	e941ecc838
2:44101119 ABCG8 T>C	2	44101119	44101119	T	C	ABCG8	c.1405T>C	NM_022437.3	NP_071882.1:p.(Ser469Pro)	NC_000002.11:g.44101119T>C	VUS	1 lab	e9439ee57e
11:18211469 MISSING T>Alt too long to show for this DUP	11	18211469	18266880	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.18211470_18266880dup	VUS	1 lab	e94484b42f
4:186008443 MISSING A>Alt too long to show for this DUP	4	186008443	186206724	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.186008445_186206724dup	VUS	1 lab	e945b6be99
9:139090901 LHX3 G>A	9	139090901	139090901	G	A	LHX3	c.426C>T	NM_001363746.1	NP_001350675.1:p.(Ala142=)	NC_000009.11:g.139090901G>A	(Likely) benign	1 lab	e959c4bbb9
11:75917435 WNT11 TGCGGCCGCGCCCTCATCGTCGCGCG>T	11	75917435	75917464	TGCGGCCGCGCCCTCATCGTCGCGCG	T	WNT11	c.-9_16del	NM_004626.3	NP_004617.2:p.?	NC_000011.9:g.75917440_75917464del	(Likely) pathogenic	1 lab	e945f183bb
15:85400533 ALPK3 G>A	15	85400533	85400533	G	A	ALPK3	c.2564G>A	NM_020778.5	NP_065829.4:p.(Cys855Tyr)	NC_000015.9:g.85400533G>A	VUS	1 lab	e946fe3a72
2:44050033 ABCG5 C>T	2	44050033	44050033	C	T	ABCG5	c.1366G>A	NM_022436.3	NP_071881.1:p.(Gly456Ser)	NC_000002.11:g.44050033C>T	(Likely) pathogenic	1 lab	e947a04310
5:133944196 SAR1B GA>G	5	133944196	133944203	GA	G	SAR1B	c.349-4del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944203del	VUS	1 lab	e9486d9b57
3:193372761 OPA1 T>G	3	193372761	193372761	T	G	OPA1	c.2123T>G	NM_130837.3	NP_570850.2:p.(Val708Gly)	NC_000003.11:g.193372761T>G	VUS	1 lab	e949819f64
6:7566483 DSP G>A	6	7566483	7566483	G	A	DSP	c.940-127G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566483G>A	(Likely) benign	1 lab	e94bbd0ea2
11:10581357 LYVE1 C>T	11	10581357	10581357	C	T	LYVE1	c.782+6G>A	NM_006691.4	NP_006682.2:p.?	NC_000011.9:g.10581357C>T	(Likely) benign	1 lab	e94ea9b376
17:7788343 CHD3 CCCG>C	17	7788343	7788366	CCCG	C	CHD3	c.240_242del	NM_001005271.3	NP_001005271.2:p.(Pro82del)	NC_000017.10:g.7788364_7788366del	(Likely) benign	1 lab	e95040968e
11:47361160 MYBPC3 C>A	11	47361160	47361160	C	A	MYBPC3	c.2067+42G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361160C>A	(Likely) benign	1 lab	e950ffeff7
4:123634913 MISSING A>Alt too long to show for this DUP	4	123634913	123677320	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.123634914_123677320dup	VUS	1 lab	e959b9de0c
2:27672967 IFT172 A>C	2	27672967	27672967	A	C	IFT172	c.3952-4T>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27672967A>C	(Likely) benign	1 lab	e9b0afa1f8
8:38880817 ADAM9 G>A	8	38880817	38880817	G	A	ADAM9	c.887G>A	NM_003816.3	NP_003807.1:p.(Arg296Gln)	NC_000008.10:g.38880817G>A	(Likely) benign	1 lab	e95dcb66cf
10:18429767 CACNB2 G>T	10	18429767	18429767	G	T	CACNB2	c.102G>T	NM_201596.3	NP_963890.2:p.(Ala34=)	NC_000010.10:g.18429767G>T	(Likely) benign	1 lab	e95ff3fe8e
2:179486089 TTN G>A	2	179486089	179486089	G	A	TTN	c.45356C>T	NM_001267550.2	NP_001254479.2:p.(Ala15119Val)	NC_000002.11:g.179486089G>A	VUS	1 lab	e9618f7f39
X:77276484 ATP7A G>A	X	77276484	77276484	G	A	ATP7A	c.2824G>A	NM_000052.7	NP_000043.4:p.(Val942Ile)	NC_000023.10:g.77276484G>A	VUS	1 lab	e9633bc9c7
10:88681437 BMPR1A CGTT>C	10	88681437	88681442	CGTT	C	BMPR1A	c.1330_1332del	NM_004329.3	NP_004320.2:p.(Cys444del)	NC_000010.10:g.88681440_88681442del	VUS	1 lab	e9636a3064
16:57965655 CNGB1 G>A	16	57965655	57965655	G	A	CNGB1	c.1500C>T	NM_001297.5	NP_001288.3:p.(Thr500=)	NC_000016.9:g.57965655G>A	(Likely) benign	1 lab	e9647f9dd0
19:11224382 LDLR G>A	19	11224382	11224382	G	A	LDLR	c.1530G>A	NM_000527.5	NP_000518.1:p.(Thr510=)	NC_000019.9:g.11224382G>A	(Likely) benign	1 lab	e969402f4b
11:116707087 APOA1 A>T	11	116707087	116707087	A	T	APOA1	c.241T>A	NM_001318017.2	NP_001304946.1:p.(Phe81Ile)	NC_000011.9:g.116707087A>T	VUS	1 lab	e969ba0038
19:45409988 APOE C>T	19	45409988	45409988	C	T	APOE	c.121+64C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409988C>T	(Likely) benign	1 lab	e96a6268b1
X:7820634 MISSING G>Alt too long to show for this DUP	X	7820634	8425637	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.7820636_8425637dup	VUS	1 lab	e96a65f7fc
7:72700413 MISSING Ref too long to show for this DEL>C	7	72700413	74193404	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72700415_74193404del	(Likely) pathogenic	1 lab	e96aa1593e
2:179615355 TTN CT>C	2	179615355	179615357	CT	C	TTN	c.11311+2495del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615357del	VUS	1 lab	e96cd4482e
2:74593164 DCTN1 G>A	2	74593164	74593164	G	A	DCTN1	c.2761-19C>T	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74593164G>A	(Likely) benign	1 lab	e96e9a43d8
19:53618588 ZNF415 C>CA	19	53618588	53618598	C	CA	ZNF415	c.245-4dup	NM_001352130.2	NP_001339059.1:p.?	NC_000019.9:g.53618598dup	(Likely) benign	1 lab	e96f5f29dc
12:21331541 SLCO1B1 G>A	12	21331541	21331541	G	A	SLCO1B1	c.513G>A	NM_006446.5	NP_006437.3:p.(Trp171Ter)	NC_000012.11:g.21331541G>A	(Likely) benign	1 lab	e9700ff50f
1:220363770 RAB3GAP2 G>A	1	220363770	220363770	G	A	RAB3GAP2	c.1580C>T	NM_012414.4	NP_036546.2:p.(Pro527Leu)	NC_000001.10:g.220363770G>A	VUS	1 lab	e972b112f0
8:19811878 LPL A>C	8	19811878	19811878	A	C	LPL	c.775+14A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811878A>C	(Likely) benign	1 lab	e973c74f11
16:57012103 CETP T>C	16	57012103	57012103	T	C	CETP	c.1082T>C	NM_000078.3	NP_000069.2:p.(Val361Ala)	NC_000016.9:g.57012103T>C	VUS	1 lab	e97888ed73
11:2608824 KCNQ1 G>T	11	2608824	2608824	G	T	KCNQ1	c.1153G>T	NM_000218.3	NP_000209.2:p.(Glu385Ter)	NC_000011.9:g.2608824G>T	(Likely) pathogenic	1 lab	e97b0b18e9
1:186121996 HMCN1 C>T	1	186121996	186121996	C	T	HMCN1	c.15011C>T	NM_031935.3	NP_114141.2:p.(Thr5004Ile)	NC_000001.10:g.186121996C>T	(Likely) benign	1 lab	e97b66219d
X:32383213 DMD T>C	X	32383213	32383213	T	C	DMD	c.4949A>G	NM_004006.3	NP_003997.2:p.(Glu1650Gly)	NC_000023.10:g.32383213T>C	VUS	1 lab	e97dc9cd7c
15:58830966 LIPC C>T	15	58830966	58830966	C	T	LIPC	c.273+250C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58830966C>T	(Likely) benign	1 lab	e97ece0df2
7:28767998 MISSING A>Alt too long to show for this DUP	7	28767998	28875897	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.28767999_28875897dup	VUS	1 lab	e97f18f46f
2:15470773 NBAS G>A	2	15470773	15470773	G	A	NBAS	c.4296C>T	NM_015909.4	NP_056993.2:p.(Val1432=)	NC_000002.11:g.15470773G>A	(Likely) benign	1 lab	e98c94f869
9:137674500 COL5A1 G>T	9	137674500	137674500	G	T	COL5A1	c.2431-13G>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674500G>T	(Likely) benign	1 lab	e98ed05d21
9:107562805 ABCA1 T>G	9	107562805	107562805	T	G	ABCA1	c.4759A>C	NM_005502.4	NP_005493.2:p.(Lys1587Gln)	NC_000009.11:g.107562805T>G	VUS	1 lab	e991834ad8
12:50499448 GPD1 G>A	12	50499448	50499448	G	A	GPD1	c.337G>A	NM_005276.4	NP_005267.2:p.(Ala113Thr)	NC_000012.11:g.50499448G>A	VUS	1 lab	e992659d42
6:112528202 LAMA4 C>G	6	112528202	112528202	C	G	LAMA4	c.422+20G>C	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112528202C>G	(Likely) benign	1 lab	e9964f228c
8:94767190 TMEM67 C>G	8	94767190	94767190	C	G	TMEM67	c.48C>G	NM_153704.6	NP_714915.3:p.(Leu16=)	NC_000008.10:g.94767190C>G	(Likely) benign	1 lab	e999991269
1:151733379 MRPL9 C>CAA	1	151733379	151733402	C	CAA	MRPL9	c.589-6_589-5dup	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151733401_151733402dup	(Likely) benign	1 lab	e99e02b795
X:114425036 RBMXL3 C>T	X	114425036	114425036	C	T	RBMXL3	c.1032C>T	NM_001145346.2	NP_001138818.1:p.(Arg344=)	NC_000023.10:g.114425036C>T	(Likely) benign	1 lab	e9a39b3971
17:75398411 SEPTIN9 C>T	17	75398411	75398411	C	T	SEPTIN9	c.293C>T	NM_006640.5	NP_006631.2:p.(Ser98Phe)	NC_000017.10:g.75398411C>T	VUS	1 lab	e9a5582b58
19:15285085 NOTCH3 G>A	19	15285085	15285085	G	A	NOTCH3	c.4530C>T	NM_000435.3	NP_000426.2:p.(Arg1510=)	NC_000019.9:g.15285085G>A	(Likely) benign	1 lab	e9a7518f43
1:156848957 NTRK1 G>T	1	156848957	156848957	G	T	NTRK1	c.1849G>T	NM_002529.4	NP_002520.2:p.(Val617Leu)	NC_000001.10:g.156848957G>T	(Likely) pathogenic	1 lab	e9a94937a9
1:161276255 MPZ C>G	1	161276255	161276255	C	G	MPZ	c.449-1G>C	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161276255C>G	(Likely) pathogenic	1 lab	e9ace7ce10
11:65309340 LTBP3 C>T	11	65309340	65309340	C	T	LTBP3	c.2597-141G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65309340C>T	(Likely) benign	1 lab	e9af3a6073
4:190883080 FRG1 C>A	4	190883080	190883080	C	A	FRG1	c.733C>A	NM_004477.3	NP_004468.1:p.(Leu245Met)	NC_000004.11:g.190883080C>A	(Likely) benign	1 lab	e9b8ce3791
19:50905432 POLD1 T>C	19	50905432	50905432	T	C	POLD1	c.590-30T>C	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50905432T>C	(Likely) benign	1 lab	e9bd553cbc
3:43121430 POMGNT2 G>A	3	43121430	43121430	G	A	POMGNT2	c.1494C>T	NM_032806.6	NP_116195.2:p.(Ser498=)	NC_000003.11:g.43121430G>A	(Likely) benign	1 lab	e9bf4811e7
13:110437855 IRS2 G>A	13	110437855	110437855	G	A	IRS2	c.546C>T	NM_003749.3	NP_003740.2:p.(Asp182=)	NC_000013.10:g.110437855G>A	(Likely) benign	1 lab	e9bf65142f
1:156144859 SEMA4A T>G	1	156144859	156144859	T	G	SEMA4A	c.928-18T>G	NM_001370571.1	NP_001357500.1:p.?	NC_000001.10:g.156144859T>G	(Likely) benign	1 lab	e9c91b1d99
8:1926748 MISSING Ref too long to show for this DEL>G	8	1926748	1981429	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.1926752_1981429del	VUS	1 lab	e9c96fb20a
11:47367949 MYBPC3 G>A	11	47367949	47367949	G	A	MYBPC3	c.927-28C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367949G>A	(Likely) benign	1 lab	e9cae7cea8
4:100516031 MTTP A>G	4	100516031	100516031	A	G	MTTP	c.900A>G	NM_000253.4	NP_000244.2:p.(Gly300=)	NC_000004.11:g.100516031A>G	(Likely) benign	1 lab	e9cbc157bd
4:108950178 MISSING Ref too long to show for this DEL>A	4	108950178	109006980	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.108950179_109006980del	VUS	1 lab	e9cca7520d
7:136593059 CHRM2 Ref too long to show for this DEL>A	7	136593059	136605459	Ref too long to show for this DEL	A	CHRM2	c.-125+38896_-125+51294del	NM_001006630.2	NP_001006631.1:p.?	NC_000007.13:g.136593061_136605459del	VUS	1 lab	e9ccb1eeda
2:62066538 FAM161A T>G	2	62066538	62066538	T	G	FAM161A	c.1583+18A>C	NM_001201543.2	NP_001188472.1:p.?	NC_000002.11:g.62066538T>G	(Likely) benign	1 lab	e9d2b9aeae
7:91700200 AKAP9 AATTT>A	7	91700200	91700204	AATTT	A	AKAP9	c.6508-18_6508-15del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91700201_91700204del	(Likely) benign	1 lab	e9d3525194
X:41091697 USP9X C>T	X	41091697	41091697	C	T	USP9X	c.7633C>T	NM_001039590.3	NP_001034679.2:p.(Pro2545Ser)	NC_000023.10:g.41091697C>T	VUS	1 lab	e9d4710258
2:179572242 TTN G>A	2	179572242	179572242	G	A	TTN	c.29041+11C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179572242G>A	(Likely) benign	1 lab	e9d58660cf
X:2833638 ARSD C>T	X	2833638	2833638	C	T	ARSD	c.959G>A	NM_001669.4	NP_001660.2:p.(Gly320Asp)	NC_000023.10:g.2833638C>T	(Likely) benign	1 lab	e9dbd851f7
12:125292370 SCARB1 G>T	12	125292370	125292370	G	T	SCARB1	c.946C>A	NM_001367981.1	NP_001354910.1:p.(Pro316Thr)	NC_000012.11:g.125292370G>T	VUS	1 lab	e9dc99f986
5:82833421 VCAN A>T	5	82833421	82833421	A	T	VCAN	c.4599A>T	NM_004385.5	NP_004376.2:p.(Ala1533=)	NC_000005.9:g.82833421A>T	(Likely) benign	1 lab	e9dcea56a4
4:100543745 MTTP A>G	4	100543745	100543745	A	G	MTTP	c.2514-89A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100543745A>G	(Likely) benign	1 lab	e9e0bc8dcc
16:11426933 MISSING Ref too long to show for this DEL>A	16	11426933	14076490	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.11426938_14076490del	VUS	1 lab	e9e3d774e0
2:179417674 TTN G>T	2	179417674	179417674	G	T	TTN	c.89953C>A	NM_001267550.2	NP_001254479.2:p.(His29985Asn)	NC_000002.11:g.179417674G>T	VUS	1 lab	e9e48682d3
19:11224451 LDLR G>A	19	11224451	11224451	G	A	LDLR	c.1586+13G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224451G>A	(Likely) benign	1 lab	e9e5ae6cd3
5:178567022 ADAMTS2 T>C	5	178567022	178567022	T	C	ADAMTS2	c.1644A>G	NM_014244.5	NP_055059.2:p.(Gly548=)	NC_000005.9:g.178567022T>C	(Likely) benign	1 lab	e9e6166cd2
X:150869494 PRRG3 G>A	X	150869494	150869494	G	A	PRRG3	c.685G>A	NM_024082.4	NP_076987.3:p.(Ala229Thr)	NC_000023.10:g.150869494G>A	(Likely) benign	1 lab	e9e7324964
16:920402 LMF1 C>T	16	920402	920402	C	T	LMF1	c.833+327G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920402C>T	(Likely) benign	1 lab	e9eab371d3
19:33579046 GPATCH1 G>A	19	33579046	33579046	G	A	GPATCH1	c.80G>A	NM_018025.3	NP_060495.2:p.(Arg27Lys)	NC_000019.9:g.33579046G>A	(Likely) benign	1 lab	e9f154fade
19:11224097 LDLR T>C	19	11224097	11224097	T	C	LDLR	c.1330T>C	NM_000527.5	NP_000518.1:p.(Ser444Pro)	NC_000019.9:g.11224097T>C	(Likely) pathogenic	1 lab	e9f44b7791
5:148388435 SH3TC2 C>T	5	148388435	148388435	C	T	SH3TC2	c.3457G>A	NM_024577.4	NP_078853.2:p.(Ala1153Thr)	NC_000005.9:g.148388435C>T	VUS	1 lab	e9f9ff586e
16:28885099 SH2B1 G>C	16	28885099	28885099	G	C	SH2B1	c.2229G>C	NM_001308293.2	NP_001295222.1:p.(Gly743=)	NC_000016.9:g.28885099G>C	(Likely) benign	1 lab	e9fa056f41
3:75787269 ZNF717 G>T	3	75787269	75787269	G	T	ZNF717	c.1505C>A	NM_001128223.3	NP_001121695.1:p.(Thr502Lys)	NC_000003.11:g.75787269G>T	(Likely) benign	1 lab	e9fa22eba9
8:10465342 RP1L1 TC>T	8	10465342	10465344	TC	T	RP1L1	c.6265del	NM_178857.6	NP_849188.4:p.(Glu2089ArgfsTer13)	NC_000008.10:g.10465344del	VUS	1 lab	e9fdf90079
X:85236824 CHM T>TAAAAAAAAAAAA	X	85236824	85236840	T	TAAAAAAAAAAAA	CHM	c.117-23_117-12dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236829_85236840dup	(Likely) benign	1 lab	ea00a7977e
16:1004607 LMF1 G>A	16	1004607	1004607	G	A	LMF1	c.253C>T	NM_022773.4	NP_073610.2:p.(Leu85Phe)	NC_000016.9:g.1004607G>A	VUS	1 lab	ea0272a944
19:11223698 LDLR T>G	19	11223698	11223698	T	G	LDLR	c.1187-256T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223698T>G	(Likely) benign	1 lab	ea06f64e6b
8:19822493 LPL T>C	8	19822493	19822493	T	C	LPL	c.1428-328T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19822493T>C	(Likely) benign	1 lab	ea09d2f50f
2:21910980 MISSING A>Alt too long to show for this DUP	2	21910980	21933651	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.21910981_21933651dup	VUS	1 lab	ea0a75777f
1:7805928 CAMTA1 C>G	1	7805928	7805928	C	G	CAMTA1	c.4394C>G	NM_015215.4	NP_056030.1:p.(Thr1465Ser)	NC_000001.10:g.7805928C>G	VUS	1 lab	ea0c9b867f
6:56194388 MISSING T>Alt too long to show for this DUP	6	56194388	56519375	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.56194390_56519375dup	VUS	1 lab	ea10a674ff
10:56106156 PCDH15 T>G	10	56106156	56106156	T	G	PCDH15	c.578A>C	NM_001142771.2	NP_001136243.1:p.(Glu193Ala)	NC_000010.10:g.56106156T>G	VUS	1 lab	ea1251205c
2:179635410 TTN C>T	2	179635410	179635410	C	T	TTN	c.8117-8G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179635410C>T	(Likely) benign	1 lab	ea1adc33e1
8:144295137 GPIHBP1 G>T	8	144295137	144295137	G	T	GPIHBP1	c.-6G>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295137G>T	(Likely) benign	1 lab	ea1bd2e008
16:81819787 PLCG2 T>C	16	81819787	81819787	T	C	PLCG2	c.193T>C	NM_002661.5	NP_002652.2:p.(Leu65=)	NC_000016.9:g.81819787T>C	(Likely) benign	1 lab	ea1d415593
8:133953673 TG C>T	8	133953673	133953673	C	T	TG	c.5119C>T	NM_003235.5	NP_003226.4:p.(Pro1707Ser)	NC_000008.10:g.133953673C>T	(Likely) benign	1 lab	ea20adb716
14:64469828 SYNE2 C>T	14	64469828	64469828	C	T	SYNE2	c.4177C>T	NM_182914.3	NP_878918.2:p.(Arg1393Trp)	NC_000014.8:g.64469828C>T	(Likely) benign	1 lab	ea22da1c52
22:17368570 MISSING C>Alt too long to show for this DUP	22	17368570	17725142	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.17368572_17725142dup	VUS	1 lab	ea28c6eab9
13:78272267 SLAIN1 T>TGG	13	78272267	78272269	T	TGG	SLAIN1	c.220_221dup	NM_001242868.2	NP_001229797.1:p.(Leu75AlafsTer125)	NC_000013.10:g.78272268_78272269dup	(Likely) benign	1 lab	ea2c0e74a2
2:179434790 TTN G>A	2	179434790	179434790	G	A	TTN	c.76069C>T	NM_001267550.2	NP_001254479.2:p.(Arg25357Cys)	NC_000002.11:g.179434790G>A	VUS	1 lab	ea2d0a57da
11:117282856 CEP164 A>G	11	117282856	117282856	A	G	CEP164	c.4355A>G	NM_014956.5	NP_055771.4:p.(His1452Arg)	NC_000011.9:g.117282856A>G	(Likely) benign	1 lab	ea2d1a4ada
16:57007734 CETP A>C	16	57007734	57007734	A	C	CETP	c.930+312A>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007734A>C	(Likely) benign	1 lab	ea3693ad49
2:241726691 KIF1A C>T	2	241726691	241726691	C	T	KIF1A	c.406G>A	NM_001244008.2	NP_001230937.1:p.(Asp136Asn)	NC_000002.11:g.241726691C>T	VUS	1 lab	ea396160d2
16:30977038 SETD1A G>A	16	30977038	30977038	G	A	SETD1A	c.1836G>A	NM_014712.3	NP_055527.1:p.(Pro612=)	NC_000016.9:g.30977038G>A	(Likely) benign	1 lab	ea3a5d589b
9:107588185 ABCA1 A>G	9	107588185	107588185	A	G	ABCA1	c.2338-17T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588185A>G	(Likely) benign	1 lab	ea3b119664
17:40688641 NAGLU G>T	17	40688641	40688641	G	T	NAGLU	c.351G>T	NM_000263.4	NP_000254.2:p.(Val117=)	NC_000017.10:g.40688641G>T	(Likely) benign	1 lab	ea3be19ec1
21:38287563 HLCS Ref too long to show for this DEL>C	21	38287563	38295149	Ref too long to show for this DEL	C	HLCS	c.1620+7402_1620+14987del	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38287564_38295149del	VUS	1 lab	ea4c7bfb6e
19:47259274 FKRP C>T	19	47259274	47259274	C	T	FKRP	c.567C>T	NM_001039885.3	NP_001034974.1:p.(Pro189=)	NC_000019.9:g.47259274C>T	(Likely) benign	1 lab	ea3cc25ca7
17:19655551 MISSING A>Alt too long to show for this DUP	17	19655551	19827703	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19655552_19827703dup	VUS	1 lab	ea3cfee2a5
4:22444467 ADGRA3 C>T	4	22444467	22444467	C	T	ADGRA3	c.726G>A	NM_145290.4	NP_660333.2:p.(Pro242=)	NC_000004.11:g.22444467C>T	(Likely) benign	1 lab	ea3d71b1bf
2:44074673 ABCG8 C>T	2	44074673	44074673	C	T	ABCG8	c.322+1223C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44074673C>T	(Likely) benign	1 lab	ea3da44df4
X:32841524 DMD A>C	X	32841524	32841524	A	C	DMD	c.-105-20T>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32841524A>C	(Likely) benign	1 lab	ea3dc5d673
2:44099125 ABCG8 C>CA	2	44099125	44099126	C	CA	ABCG8	c.976dup	NM_022437.3	NP_071882.1:p.(Ser326LysfsTer3)	NC_000002.11:g.44099126dup	(Likely) pathogenic	1 lab	ea3ef475f0
18:40857281 MISSING G>Alt too long to show for this DUP	18	40857281	40896617	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.40857282_40896617dup	VUS	1 lab	ea3f1d4646
1:237538113 RYR2 C>T	1	237538113	237538113	C	T	RYR2	c.463+18C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237538113C>T	(Likely) benign	1 lab	ea423af8a3
10:69954278 MYPN G>A	10	69954278	69954278	G	A	MYPN	c.3075+9G>A	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69954278G>A	(Likely) benign	1 lab	ea48ad090f
16:15826208 MYH11 C>G	16	15826208	15826208	C	G	MYH11	c.3651+213G>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15826208C>G	(Likely) benign	1 lab	ea48f1475c
16:88798330 PIEZO1 A>AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG	16	88798330	88798341	A	AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGG	PIEZO1	c.2992-13_2992-12insCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGG	(Likely) benign	1 lab	ea492b732d
X:70443565 GJB1 G>C	X	70443565	70443565	G	C	GJB1	c.8G>C	NM_000166.6	NP_000157.1:p.(Trp3Ser)	NC_000023.10:g.70443565G>C	(Likely) pathogenic	1 lab	ea4985e5b8
1:66074549 LEPR C>A	1	66074549	66074549	C	A	LEPR	c.1717C>A	NM_001003679.3	NP_001003679.1:p.(Arg573Ser)	NC_000001.10:g.66074549C>A	VUS	1 lab	ea4ccbbb41
9:117188532 WHRN G>A	9	117188532	117188532	G	A	WHRN	c.1125C>T	NM_001173425.2	NP_001166896.1:p.(Ile375=)	NC_000009.11:g.117188532G>A	(Likely) benign	1 lab	ea4d4eb822
16:919135 LMF1 C>G	16	919135	919135	C	G	LMF1	c.1417-79G>C	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.919135C>G	(Likely) benign	1 lab	ea4e093b05
8:133920590 TG A>G	8	133920590	133920590	A	G	TG	c.4002+5A>G	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133920590A>G	(Likely) benign	1 lab	ea4fa1e886
7:100855698 PLOD3 A>C	7	100855698	100855698	A	C	PLOD3	c.1006-43T>G	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855698A>C	(Likely) benign	1 lab	ea5558792e
16:9862777 GRIN2A G>T	16	9862777	9862777	G	T	GRIN2A	c.2526C>A	NM_001134407.3	NP_001127879.1:p.(Tyr842Ter)	NC_000016.9:g.9862777G>T	(Likely) pathogenic	1 lab	ea556a1f2b
11:95583919 MTMR2 T>TATAGCTTCCACCCATTTTCAGG	11	95583919	95583920	T	TATAGCTTCCACCCATTTTCAGG	MTMR2	c.439-7_439-6insCCTGAAAATGGGTGGAAGCTAT	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583919_95583920insATAGCTTCCACCCATTTTCAGG	(Likely) benign	1 lab	ea56b40731
7:110674807 IMMP2L Ref too long to show for this DEL>T	7	110674807	110975041	Ref too long to show for this DEL	T	IMMP2L	c.239+152253_240-71187del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110674808_110975041del	VUS	1 lab	ea5708bdf4
12:11286239 TAS2R30 A>G	12	11286239	11286239	A	G	TAS2R30	c.605T>C	NM_001097643.1	NP_001091112.1:p.(Leu202Pro)	NC_000012.11:g.11286239A>G	(Likely) benign	1 lab	ea5892ecc9
6:16597615 ATXN1 A>Alt too long to show for this DUP	6	16597615	16615586	A	Alt too long to show for this DUP	ATXN1	c.-488-29444_-488-11478dup	NM_001128164.2	NP_001121636.1:p.?	NC_000006.11:g.16597620_16615586dup	VUS	1 lab	ea5b8395f5
10:68381440 CTNNA3 G>A	10	68381440	68381440	G	A	CTNNA3	c.1374+10C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68381440G>A	(Likely) benign	1 lab	ea5d3dfd9e
19:49685894 TRPM4 G>T	19	49685894	49685894	G	T	TRPM4	c.1323G>T	NM_017636.4	NP_060106.2:p.(Val441=)	NC_000019.9:g.49685894G>T	(Likely) benign	1 lab	ea5e609a31
1:215821921 USH2A G>A	1	215821921	215821921	G	A	USH2A	c.14531C>T	NM_206933.4	NP_996816.3:p.(Thr4844Met)	NC_000001.10:g.215821921G>A	(Likely) benign	1 lab	ea5f8c6576
9:32541965 TOPORS GTC>G	9	32541965	32541972	GTC	G	TOPORS	c.2556_2557del	NM_005802.5	NP_005793.2:p.(Glu852AspfsTer20)	NC_000009.11:g.32541971_32541972del	(Likely) pathogenic	1 lab	ea61bd8946
6:66115135 EYS C>T	6	66115135	66115135	C	T	EYS	c.988G>A	NM_001292009.2	NP_001278938.1:p.(Glu330Lys)	NC_000006.11:g.66115135C>T	VUS	1 lab	ea646db950
9:35075543 FANCG C>T	9	35075543	35075543	C	T	FANCG	c.1352G>A	NM_004629.2	NP_004620.1:p.(Trp451Ter)	NC_000009.11:g.35075543C>T	(Likely) pathogenic	1 lab	ea66a065d6
12:46633443 MISSING Ref too long to show for this DEL>T	12	46633443	46672451	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.46633446_46672451del	VUS	1 lab	ea6cd333fd
10:89720597 PTEN ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCT>A	10	89720597	89720636	ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCT	A	PTEN	c.802-51_802-15del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720600_89720636del	(Likely) benign	1 lab	ea6df425c7
1:33236979 NHSL3 A>C	1	33236979	33236979	A	C	NHSL3	c.2199A>C	NM_020888.3	NP_065939.2:p.(Pro733=)	NC_000001.10:g.33236979A>C	(Likely) benign	1 lab	ea6e295923
3:49701959 BSN A>G	3	49701959	49701959	A	G	BSN	c.11712A>G	NM_003458.4	NP_003449.2:p.(Ala3904=)	NC_000003.11:g.49701959A>G	(Likely) benign	1 lab	ea6e3ca63a
2:179446865 TTN C>T	2	179446865	179446865	C	T	TTN	c.66231G>A	NM_001267550.2	NP_001254479.2:p.(Lys22077=)	NC_000002.11:g.179446865C>T	(Likely) benign	1 lab	ea6f0fe572
2:48026517 MSH6 A>T	2	48026517	48026517	A	T	MSH6	c.1395A>T	NM_000179.3	NP_000170.1:p.(Ala465=)	NC_000002.11:g.48026517A>T	(Likely) benign	1 lab	ea71934428
2:15651182 NBAS T>C	2	15651182	15651182	T	C	NBAS	c.885+154A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15651182T>C	(Likely) benign	1 lab	ea768bdfa6
17:57758316 CLTC TGTCA>T	17	57758316	57758322	TGTCA	T	CLTC	c.2966_2969del	NM_004859.4	NP_004850.1:p.(Ser989Ter)	NC_000017.10:g.57758319_57758322del	(Likely) pathogenic	1 lab	ea78bac858
3:155562071 MISSING Ref too long to show for this DEL>A	3	155562071	155595615	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.155562073_155595615del	(Likely) pathogenic	1 lab	ea7cdda991
1:2237509 SKI G>A	1	2237509	2237509	G	A	SKI	c.1818G>A	NM_003036.4	NP_003027.1:p.(Thr606=)	NC_000001.10:g.2237509G>A	(Likely) benign	1 lab	ea7e982644
19:55667716 TNNI3 AGG>A	19	55667716	55667719	AGG	A	TNNI3	c.151-18_151-17del	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55667718_55667719del	(Likely) benign	1 lab	ea80dd13a0
15:34544488 SLC12A6 A>G	15	34544488	34544488	A	G	SLC12A6	c.1189T>C	NM_001042496.2	NP_001035961.1:p.(Trp397Arg)	NC_000015.9:g.34544488A>G	VUS	1 lab	ea819e12d4
5:43537051 PAIP1 C>T	5	43537051	43537051	C	T	PAIP1	c.847-5G>A	NM_006451.5	NP_006442.2:p.?	NC_000005.9:g.43537051C>T	(Likely) benign	1 lab	ea82193284
1:63069829 ANGPTL3 C>A	1	63069829	63069829	C	A	ANGPTL3	c.1121C>A	NM_014495.4	NP_055310.1:p.(Pro374Gln)	NC_000001.10:g.63069829C>A	VUS	1 lab	ea84e0c9de
12:112939923 PTPN11 A>Alt too long to show for this DUP	12	112939923	112940312	A	Alt too long to show for this DUP	PTPN11	c.1600-24_1712+252dup	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112939924_112940312dup	VUS	1 lab	ea88a1aa11
19:11216091 LDLR AC>A	19	11216091	11216095	AC	A	LDLR	c.513del	NM_000527.5	NP_000518.1:p.(Asp172ThrfsTer34)	NC_000019.9:g.11216095del	(Likely) pathogenic	1 lab	ea8ddc944b
1:185985194 HMCN1 A>G	1	185985194	185985194	A	G	HMCN1	c.5014A>G	NM_031935.3	NP_114141.2:p.(Ile1672Val)	NC_000001.10:g.185985194A>G	(Likely) benign	1 lab	ea97234895
1:78426184 FUBP1 C>A	1	78426184	78426184	C	A	FUBP1	c.1408-4G>T	NM_001303433.2	NP_001290362.1:p.?	NC_000001.10:g.78426184C>A	(Likely) benign	1 lab	ea97f87867
15:75183013 MPI T>A	15	75183013	75183013	T	A	MPI	c.144+18T>A	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75183013T>A	(Likely) benign	1 lab	ea9be8cf05
9:113191597 SVEP1 G>A	9	113191597	113191597	G	A	SVEP1	c.5633C>T	NM_153366.4	NP_699197.3:p.(Thr1878Ile)	NC_000009.11:g.113191597G>A	(Likely) benign	1 lab	ea9d0b167e
2:44065090 ABCG5 G>A	2	44065090	44065090	G	A	ABCG5	c.148C>T	NM_022436.3	NP_071881.1:p.(Arg50Cys)	NC_000002.11:g.44065090G>A	(Likely) benign	1 lab	ea9f8f2672
6:170331094 MISSING Ref too long to show for this DEL>C	6	170331094	170919482	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.170331096_170919482del	(Likely) pathogenic	1 lab	eaa0002403
18:25572677 CDH2 C>T	18	25572677	25572677	C	T	CDH2	c.1286G>A	NM_001792.5	NP_001783.2:p.(Gly429Glu)	NC_000018.9:g.25572677C>T	VUS	1 lab	eaa0e83173
7:94039073 COL1A2 A>T	7	94039073	94039073	A	T	COL1A2	c.975A>T	NM_000089.4	NP_000080.2:p.(Gly325=)	NC_000007.13:g.94039073A>T	(Likely) benign	1 lab	eaa114f99c
14:21679689 HNRNPC C>G	14	21679689	21679689	C	G	HNRNPC	c.713G>C	NM_031314.3	NP_112604.2:p.(Ser238Thr)	NC_000014.8:g.21679689C>G	(Likely) benign	1 lab	eaa1f69d28
9:137623973 COL5A1 G>A	9	137623973	137623973	G	A	COL5A1	c.1389G>A	NM_000093.5	NP_000084.3:p.(Pro463=)	NC_000009.11:g.137623973G>A	VUS	1 lab	eaa2314068
5:82786272 VCAN G>A	5	82786272	82786272	G	A	VCAN	c.426G>A	NM_004385.5	NP_004376.2:p.(Thr142=)	NC_000005.9:g.82786272G>A	(Likely) benign	1 lab	eaa3c83fec
10:121431869 BAG3 G>A	10	121431869	121431869	G	A	BAG3	c.610G>A	NM_004281.4	NP_004272.2:p.(Gly204Arg)	NC_000010.10:g.121431869G>A	VUS	1 lab	eaa3d670c6
13:94404446 GPC6 G>Alt too long to show for this DUP	13	94404446	94414638	G	Alt too long to show for this DUP	GPC6	c.320-77960_320-67769dup	NM_005708.5	NP_005699.1:p.?	NC_000013.10:g.94404447_94414638dup	VUS	1 lab	eaa52affc8
7:30651845 GARS1 G>A	7	30651845	30651845	G	A	GARS1	c.853G>A	NM_001316772.1	NP_001303701.1:p.(Gly285Arg)	NC_000007.13:g.30651845G>A	VUS	1 lab	eaa5883fde
2:21239595 APOB A>G	2	21239595	21239595	A	G	APOB	c.3122-74T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239595A>G	(Likely) benign	1 lab	eaa780869b
2:21226157 APOB C>T	2	21226157	21226157	C	T	APOB	c.12137G>A	NM_000384.3	NP_000375.3:p.(Arg4046Gln)	NC_000002.11:g.21226157C>T	(Likely) benign	1 lab	eaaa542754
2:177034130 HOXD3 G>A	2	177034130	177034130	G	A	HOXD3	c.288G>A	NM_006898.5	NP_008829.3:p.(Gly96=)	NC_000002.11:g.177034130G>A	(Likely) benign	1 lab	eaab14f36c
19:5844663 FUT3 A>AGGGGGGGGG	19	5844663	5844667	A	AGGGGGGGGG	FUT3	c.187_188insCCCCCCCCC	NM_000149.4	NP_000140.1:p.(Thr62_Leu63insProProPro)	NC_000019.9:g.5844666_5844667insGGGGGGGGG	(Likely) benign	1 lab	eaad2d1202
19:50919858 POLD1 C>A	19	50919858	50919858	C	A	POLD1	c.2954-9C>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50919858C>A	(Likely) benign	1 lab	eaad68411a
2:179604870 TTN C>T	2	179604870	179604870	C	T	TTN	c.13090G>A	NM_001267550.2	NP_001254479.2:p.(Val4364Met)	NC_000002.11:g.179604870C>T	VUS	1 lab	eaae23fb2a
3:41275648 CTNNB1 C>T	3	41275648	41275648	C	T	CTNNB1	c.1543C>T	NM_001904.4	NP_001895.1:p.(Arg515Ter)	NC_000003.11:g.41275648C>T	(Likely) pathogenic	1 lab	eab0f06012
16:77317891 ADAMTS18 C>T	16	77317891	77317891	C	T	ADAMTS18	c.3628G>A	NM_199355.4	NP_955387.1:p.(Gly1210Arg)	NC_000016.9:g.77317891C>T	(Likely) benign	1 lab	eab23ffde6
1:245851450 KIF26B G>C	1	245851450	245851450	G	C	KIF26B	c.5165G>C	NM_018012.4	NP_060482.2:p.(Gly1722Ala)	NC_000001.10:g.245851450G>C	(Likely) benign	1 lab	eab2b233e4
5:38484867 LIFR G>A	5	38484867	38484867	G	A	LIFR	c.2591+10C>T	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38484867G>A	(Likely) benign	1 lab	eab7be0f90
12:32687323 FGD4 A>G	12	32687323	32687323	A	G	FGD4	c.-355A>G	NM_001385118.1	NP_001372047.1:p.?	NC_000012.11:g.32687323A>G	(Likely) benign	1 lab	eab922803b
21:47404317 COL6A1 A>G	21	47404317	47404317	A	G	COL6A1	c.362A>G	NM_001848.3	NP_001839.2:p.(Lys121Arg)	NC_000021.8:g.47404317A>G	(Likely) pathogenic	1 lab	eabafc93ed
1:236959016 MTR C>A	1	236959016	236959016	C	A	MTR	c.13C>A	NM_000254.3	NP_000245.2:p.(Leu5Ile)	NC_000001.10:g.236959016C>A	VUS	1 lab	eabccdaef8
2:198267371 SF3B1 G>T	2	198267371	198267371	G	T	SF3B1	c.1986C>A	NM_012433.4	NP_036565.2:p.(His662Gln)	NC_000002.11:g.198267371G>T	VUS	1 lab	eabcced73a
4:6279250 WFS1 C>G	4	6279250	6279250	C	G	WFS1	c.68C>G	NM_006005.3	NP_005996.2:p.(Ala23Gly)	NC_000004.11:g.6279250C>G	VUS	1 lab	eabce82879
5:167957553 MISSING Ref too long to show for this DEL>C	5	167957553	167979355	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.167957554_167979355del	VUS	1 lab	eabd008878
1:235993596 LYST G>T	1	235993596	235993596	G	T	LYST	c.122C>A	NM_001301365.1	NP_001288294.1:p.(Thr41Asn)	NC_000001.10:g.235993596G>T	VUS	1 lab	eac603890d
10:88439872 LDB3 A>T	10	88439872	88439872	A	T	LDB3	c.279A>T	NM_001080116.1	NP_001073585.1:p.(Ala93=)	NC_000010.10:g.88439872A>T	(Likely) benign	1 lab	eac7bc48cf
1:74954856 FPGT-TNNI3K C>CT	1	74954856	74954862	C	CT	FPGT-TNNI3K	c.2425-11dup	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74954862dup	(Likely) benign	1 lab	eaca85f11b
2:56098209 EFEMP1 A>G	2	56098209	56098209	A	G	EFEMP1	c.1050T>C	NM_001039348.3	NP_001034437.1:p.(Cys350=)	NC_000002.11:g.56098209A>G	(Likely) benign	1 lab	eacb593beb
12:48375134 COL2A1 C>A	12	48375134	48375134	C	A	COL2A1	c.2455G>T	NM_001844.5	NP_001835.3:p.(Gly819Cys)	NC_000012.11:g.48375134C>A	(Likely) pathogenic	1 lab	eacc167006
15:76763683 SCAPER G>A	15	76763683	76763683	G	A	SCAPER	c.2973-7C>T	NM_001353009.2	NP_001339938.1:p.?	NC_000015.9:g.76763683G>A	(Likely) benign	1 lab	eace1a1521
10:985598 MISSING A>Alt too long to show for this DUP	10	985598	1351462	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.985599_1351462dup	VUS	1 lab	ead08c656d
13:23544849 MISSING Ref too long to show for this DEL>G	13	23544849	24910743	Ref too long to show for this DEL	G	MISSING				NC_000013.10:g.23544850_24910743del	VUS	1 lab	ead1446d6d
16:28877464 SH2B1 C>A	16	28877464	28877464	C	A	SH2B1	c.49C>A	NM_015503.3	NP_056318.2:p.(Pro17Thr)	NC_000016.9:g.28877464C>A	VUS	1 lab	ead1cf1cf9
5:150934108 FAT2 T>C	5	150934108	150934108	T	C	FAT2	c.3760A>G	NM_001447.3	NP_001438.1:p.(Arg1254Gly)	NC_000005.9:g.150934108T>C	VUS	1 lab	eaf0737da1
19:11216264 LDLR G>C	19	11216264	11216264	G	C	LDLR	c.682G>C	NM_000527.5	NP_000518.1:p.(Glu228Gln)	NC_000019.9:g.11216264G>C	(Likely) pathogenic	1 lab	ead6580c58
9:137676609 COL5A1 C>T	9	137676609	137676609	C	T	COL5A1	c.2485-226C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137676609C>T	(Likely) benign	1 lab	ead918a7fd
12:125299677 SCARB1 T>C	12	125299677	125299677	T	C	SCARB1	c.285-17A>G	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299677T>C	(Likely) benign	1 lab	eadd4c0dbe
1:204950983 NFASC C>T	1	204950983	204950983	C	T	NFASC	c.2305C>T	NM_001005388.3	NP_001005388.2:p.(Arg769Trp)	NC_000001.10:g.204950983C>T	VUS	1 lab	eaddc79ec8
12:5154893 KCNA5 C>T	12	5154893	5154893	C	T	KCNA5	c.1580C>T	NM_002234.4	NP_002225.2:p.(Thr527Met)	NC_000012.11:g.5154893C>T	(Likely) pathogenic	1 lab	eae1282395
5:64084863 CWC27 CCCTTTGTT>C	5	64084863	64084872	CCCTTTGTT	C	CWC27	c.669+18_669+25del	NM_001297645.2	NP_001284574.1:p.?	NC_000005.9:g.64084865_64084872del	(Likely) benign	1 lab	eae1417847
9:269429 DOCK8 T>Alt too long to show for this DUP	9	269429	308950	T	Alt too long to show for this DUP	DOCK8	c.54-2195_529-3004dup	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.269432_308950dup	VUS	1 lab	eae3b4eb54
15:58840667 LIPC G>T	15	58840667	58840667	G	T	LIPC	c.947G>T	NM_000236.3	NP_000227.2:p.(Cys316Phe)	NC_000015.9:g.58840667G>T	VUS	1 lab	eae52f1ddc
8:59404233 CYP7A1 G>A	8	59404233	59404233	G	A	CYP7A1	c.1316C>T	NM_000780.4	NP_000771.2:p.(Ser439Leu)	NC_000008.10:g.59404233G>A	VUS	1 lab	eaf08167f2
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	eae553eb3f
4:74283807 ALB A>G	4	74283807	74283807	A	G	ALB	c.1431A>G	NM_000477.7	NP_000468.1:p.(Leu477=)	NC_000004.11:g.74283807A>G	(Likely) benign	1 lab	eae608151d
1:161276701 MPZ T>G	1	161276701	161276701	T	G	MPZ	c.245A>C	NM_000530.8	NP_000521.2:p.(Tyr82Ser)	NC_000001.10:g.161276701T>G	(Likely) pathogenic	1 lab	eae8789b7b
11:71238756 KRTAP5-7 G>A	11	71238756	71238756	G	A	KRTAP5-7	c.410G>A	NM_001012503.2	NP_001012521.1:p.(Gly137Glu)	NC_000011.9:g.71238756G>A	(Likely) benign	1 lab	eae94e352c
8:19811584 LPL C>A	8	19811584	19811584	C	A	LPL	c.542-47C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811584C>A	(Likely) benign	1 lab	eae9707dc3
17:41246723 BRCA1 G>GCCACATGGCT	17	41246723	41246740	G	GCCACATGGCT	BRCA1	c.815_824dup	NM_007294.4	NP_009225.1:p.(Thr276AlafsTer14)	NC_000017.10:g.41246731_41246740dup	(Likely) pathogenic	1 lab	eaebe56946
11:68207399 LRP5 C>T	11	68207399	68207399	C	T	LRP5	c.4488+15C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68207399C>T	(Likely) benign	1 lab	eaed498c8d
10:90988072 LIPA C>T	10	90988072	90988072	C	T	LIPA	c.313G>A	NM_000235.4	NP_000226.2:p.(Gly105Ser)	NC_000010.10:g.90988072C>T	(Likely) pathogenic	1 lab	eaed7e3e5d
7:155595725 SHH CA>C	7	155595725	155595726	CA	C	SHH	c.1257del	NM_000193.4	NP_000184.1:p.(Ala420LeufsTer23)	NC_000007.13:g.155595726del	(Likely) pathogenic	1 lab	eaeff134a3
19:36211503 KMT2B A>C	19	36211503	36211503	A	C	KMT2B	c.1254A>C	NM_014727.3	NP_055542.1:p.(Pro418=)	NC_000019.9:g.36211503A>C	(Likely) benign	1 lab	eafd595f18
16:15850135 MYH11 T>C	16	15850135	15850135	T	C	MYH11	c.1749+63A>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15850135T>C	(Likely) benign	1 lab	eafe133b47
15:45437272 DUOX1 C>T	15	45437272	45437272	C	T	DUOX1	c.2316C>T	NM_017434.5	NP_059130.2:p.(Phe772=)	NC_000015.9:g.45437272C>T	(Likely) benign	1 lab	eb00ad265f
X:153582797 FLNA G>A	X	153582797	153582797	G	A	FLNA	c.5368C>T	NM_001110556.2	NP_001104026.1:p.(Pro1790Ser)	NC_000023.10:g.153582797G>A	VUS	1 lab	eb00f08a19
1:63063530 ANGPTL3 A>G	1	63063530	63063530	A	G	ANGPTL3	c.293A>G	NM_014495.4	NP_055310.1:p.(Glu98Gly)	NC_000001.10:g.63063530A>G	VUS	1 lab	eb03058a16
15:80762646 ARNT2 C>T	15	80762646	80762646	C	T	ARNT2	c.282C>T	NM_014862.4	NP_055677.3:p.(Ser94=)	NC_000015.9:g.80762646C>T	(Likely) benign	1 lab	eb0397cedb
10:88446810 LDB3 C>T	10	88446810	88446810	C	T	LDB3	c.690-16C>T	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88446810C>T	(Likely) benign	1 lab	eb045fb488
16:86602180 FOXC2 GC>G	16	86602180	86602183	GC	G	FOXC2	c.1242del	NM_005251.3	NP_005242.1:p.(Ala416ProfsTer17)	NC_000016.9:g.86602183del	(Likely) pathogenic	1 lab	eb06ba4b92
8:27607933 CCDC25 Ref too long to show for this DEL>T	8	27607933	27627191	Ref too long to show for this DEL	T	CCDC25	c.28+2839_245-1819del	NM_018246.3	NP_060716.2:p.?	NC_000008.10:g.27607934_27627191del	VUS	1 lab	eb18047ea6
16:12021521 NPIPB2 G>A	16	12021521	12021521	G	A	NPIPB2	c.381C>T	NM_001355514.1	NP_001342443.1:p.(Pro127=)	NC_000016.9:g.12021521G>A	(Likely) benign	1 lab	eb19834398
22:20029289 MISSING Ref too long to show for this DEL>C	22	20029289	20062808	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.20029290_20062808del	(Likely) pathogenic	1 lab	eb1b92df5d
17:41244773 BRCA1 G>A	17	41244773	41244773	G	A	BRCA1	c.2775C>T	NM_007294.4	NP_009225.1:p.(Ile925=)	NC_000017.10:g.41244773G>A	(Likely) benign	1 lab	eb1d348c7d
18:77457894 CTDP1 G>A	18	77457894	77457894	G	A	CTDP1	c.527G>A	NM_048368.4	NP_430255.2:p.(Arg176Gln)	NC_000018.9:g.77457894G>A	VUS	1 lab	eb1e5ad36d
15:72105839 NR2E3 C>T	15	72105839	72105839	C	T	NR2E3	c.858C>T	NM_016346.4	NP_057430.1:p.(Ala286=)	NC_000015.9:g.72105839C>T	(Likely) benign	1 lab	eb1ef68fe3
4:100544188 MTTP C>T	4	100544188	100544188	C	T	MTTP	c.*183C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100544188C>T	(Likely) benign	1 lab	eb1fddab17
19:11537513 ODAD3 G>GTAGGT	19	11537513	11537514	G	GTAGGT	ODAD3	c.703_704insACCTA	NM_145045.5	NP_659482.3:p.(Ala235AspfsTer5)	NC_000019.9:g.11537513_11537514insTAGGT	(Likely) pathogenic	1 lab	eb1ff4baac
X:1378590 MISSING G>Alt too long to show for this DUP	X	1378590	1392901	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.1378591_1392901dup	VUS	1 lab	eb222eb5f8
6:152712715 SYNE1 G>GAAAAAA	6	152712715	152712729	G	GAAAAAA	SYNE1	c.7713-18_7713-13dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712724_152712729dup	(Likely) benign	1 lab	eb224e184d
2:21235105 APOB G>A	2	21235105	21235105	G	A	APOB	c.4635C>T	NM_000384.3	NP_000375.3:p.(Thr1545=)	NC_000002.11:g.21235105G>A	(Likely) benign	1 lab	eb254bf725
1:156128250 SEMA4A C>T	1	156128250	156128250	C	T	SEMA4A	c.435C>T	NM_022367.4	NP_071762.2:p.(Phe145=)	NC_000001.10:g.156128250C>T	(Likely) benign	1 lab	eb28b383dc
15:48937427 FBN1 G>C	15	48937427	48937427	G	C	FBN1	c.-181-280C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48937427G>C	(Likely) benign	1 lab	eb2989321a
8:134125650 TG CT>C	8	134125650	134125661	CT	C	TG	c.7573-5del	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134125661del	(Likely) benign	1 lab	eb29a57b5d
9:107607859 ABCA1 AG>A	9	107607859	107607860	AG	A	ABCA1	c.721-10del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107607860del	(Likely) benign	1 lab	eb30a12ff5
2:133787994 NCKAP5 Ref too long to show for this DEL>T	2	133787994	134021612	Ref too long to show for this DEL	T	NCKAP5	c.143+38998_342-36183del	NM_207363.3	NP_997246.2:p.?	NC_000002.11:g.133787996_134021612del	VUS	1 lab	eb33191fc7
18:29101148 DSG2 C>T	18	29101148	29101148	C	T	DSG2	c.465C>T	NM_001943.5	NP_001934.2:p.(Asn155=)	NC_000018.9:g.29101148C>T	(Likely) benign	1 lab	eb336b3553
1:22155931 HSPG2 G>A	1	22155931	22155931	G	A	HSPG2	c.11940C>T	NM_001291860.2	NP_001278789.1:p.(Phe3980=)	NC_000001.10:g.22155931G>A	(Likely) benign	1 lab	eb377bc569
16:23632693 PALB2 T>C	16	23632693	23632693	T	C	PALB2	c.3103A>G	NM_024675.4	NP_078951.2:p.(Ile1035Val)	NC_000016.9:g.23632693T>C	VUS	1 lab	eb38a2dc93
16:66958993 RRAD G>A	16	66958993	66958993	G	A	RRAD	c.90C>T	NM_001128850.2	NP_001122322.1:p.(Gly30=)	NC_000016.9:g.66958993G>A	(Likely) benign	1 lab	eb3afc0002
1:75859678 SLC44A5 C>Alt too long to show for this DUP	1	75859678	75931669	C	Alt too long to show for this DUP	SLC44A5	c.14-69363_52+2589dup	NM_001130058.2	NP_001123530.1:p.?	NC_000001.10:g.75859679_75931669dup	VUS	1 lab	eb3c32634e
14:31808729 MISSING A>Alt too long to show for this DUP	14	31808729	32186917	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.31808732_32186917dup	VUS	1 lab	eb4c6a5535
3:38597256 SCN5A AAAGAG>A	3	38597256	38597264	AAAGAG	A	SCN5A	c.4438-10_4438-6del	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38597260_38597264del	(Likely) benign	1 lab	eb3d9d5018
2:21245827 APOB C>T	2	21245827	21245827	C	T	APOB	c.2692G>A	NM_000384.3	NP_000375.3:p.(Gly898Arg)	NC_000002.11:g.21245827C>T	VUS	1 lab	eb3e5adc4d
14:23885292 MYH7 A>G	14	23885292	23885292	A	G	MYH7	c.4874T>C	NM_000257.4	NP_000248.2:p.(Met1625Thr)	NC_000014.8:g.23885292A>G	VUS	1 lab	eb3ee0144d
8:55540954 RP1 A>G	8	55540954	55540954	A	G	RP1	c.4512A>G	NM_006269.2	NP_006260.1:p.(Leu1504=)	NC_000008.10:g.55540954A>G	(Likely) benign	1 lab	eb3f4e9fff
X:70443751 GJB1 A>G	X	70443751	70443751	A	G	GJB1	c.194A>G	NM_000166.6	NP_000157.1:p.(Tyr65Cys)	NC_000023.10:g.70443751A>G	(Likely) pathogenic	1 lab	eb422dac36
14:64498037 SYNE2 G>A	14	64498037	64498037	G	A	SYNE2	c.7183G>A	NM_182914.3	NP_878918.2:p.(Ala2395Thr)	NC_000014.8:g.64498037G>A	(Likely) benign	1 lab	eb424a128a
9:35805543 NPR2 G>A	9	35805543	35805543	G	A	NPR2	c.1923G>A	NM_003995.4	NP_003986.2:p.(Ser641=)	NC_000009.11:g.35805543G>A	(Likely) benign	1 lab	eb4325385a
X:48934147 WDR45 G>C	X	48934147	48934147	G	C	WDR45	c.381C>G	NM_007075.4	NP_009006.2:p.(Tyr127Ter)	NC_000023.10:g.48934147G>C	(Likely) pathogenic	1 lab	eb440c574c
10:112769133 SHOC2 A>C	10	112769133	112769133	A	C	SHOC2	c.1412A>C	NM_007373.4	NP_031399.2:p.(Lys471Thr)	NC_000010.10:g.112769133A>C	VUS	1 lab	eb44c8f3c9
19:55377988 KIR3DL2 A>T	19	55377988	55377988	A	T	KIR3DL2	c.1170A>T	NM_006737.4	NP_006728.2:p.(Glu390Asp)	NC_000019.9:g.55377988A>T	(Likely) benign	1 lab	eb464eedfe
16:46772042 MYLK3 C>T	16	46772042	46772042	C	T	MYLK3	c.582G>A	NM_182493.3	NP_872299.2:p.(Ala194=)	NC_000016.9:g.46772042C>T	(Likely) benign	1 lab	eb4734324d
22:21060213 MISSING Ref too long to show for this DEL>A	22	21060213	21798908	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21060216_21798908del	(Likely) pathogenic	1 lab	eb5283013a
20:40079642 CHD6 G>A	20	40079642	40079642	G	A	CHD6	c.3627C>T	NM_032221.5	NP_115597.3:p.(Pro1209=)	NC_000020.10:g.40079642G>A	(Likely) benign	1 lab	eb52bf5d10
12:109702063 ACACB C>T	12	109702063	109702063	C	T	ACACB	c.6814C>T	NM_001093.4	NP_001084.3:p.(Arg2272Ter)	NC_000012.11:g.109702063C>T	VUS	1 lab	eb5457d62e
6:117869582 MISSING G>Alt too long to show for this DUP	6	117869582	117901307	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.117869583_117901307dup	VUS	1 lab	eb55e77d86
16:11647434 LITAF G>C	16	11647434	11647434	G	C	LITAF	c.332C>G	NM_004862.4	NP_004853.2:p.(Ala111Gly)	NC_000016.9:g.11647434G>C	(Likely) pathogenic	1 lab	eb5b2a4f58
19:38990576 RYR1 C>G	19	38990576	38990576	C	G	RYR1	c.7243C>G	NM_000540.3	NP_000531.2:p.(Arg2415Gly)	NC_000019.9:g.38990576C>G	VUS	1 lab	eb5de39a78
20:42788598 JPH2 C>A	20	42788598	42788598	C	A	JPH2	c.829G>T	NM_020433.5	NP_065166.2:p.(Ala277Ser)	NC_000020.10:g.42788598C>A	VUS	1 lab	eb6004510c
9:130248054 LRSAM1 G>A	9	130248054	130248054	G	A	LRSAM1	c.1199G>A	NM_138361.5	NP_612370.3:p.(Arg400Gln)	NC_000009.11:g.130248054G>A	VUS	1 lab	eb62c1ac1e
3:38182641 ACAA1 T>C	3	38182641	38182641	T	C	ACAA1				NC_000003.11:g.38182641T>C	VUS	1 lab	ebdd00585c
1:10425476 KIF1B A>AC	1	10425476	10425479	A	AC	KIF1B	c.4387dup	NM_015074.3	NP_055889.2:p.(Arg1463ProfsTer8)	NC_000001.10:g.10425479dup	(Likely) benign	1 lab	eb69d33224
9:2060894 SMARCA2 G>A	9	2060894	2060894	G	A	SMARCA2	c.1600G>A	NM_003070.5	NP_003061.3:p.(Asp534Asn)	NC_000009.11:g.2060894G>A	(Likely) pathogenic	1 lab	eb6ab571f1
10:50339754 FAM170B G>A	10	50339754	50339754	G	A	FAM170B	c.756C>T	NM_001164484.2	NP_001157956.1:p.(Asp252=)	NC_000010.10:g.50339754G>A	(Likely) benign	1 lab	eb6c0e30d5
1:151318733 RFX5 C>T	1	151318733	151318733	C	T	RFX5	c.64G>A	NM_000449.4	NP_000440.1:p.(Ala22Thr)	NC_000001.10:g.151318733C>T	(Likely) benign	1 lab	eb6d7439c1
10:90773115 FAS A>C	10	90773115	90773115	A	C	FAS	c.667A>C	NM_000043.6	NP_000034.1:p.(Asn223His)	NC_000010.10:g.90773115A>C	(Likely) benign	1 lab	eb6f7b0867
2:21232758 APOB A>C	2	21232758	21232758	A	C	APOB	c.6982T>G	NM_000384.3	NP_000375.3:p.(Phe2328Val)	NC_000002.11:g.21232758A>C	VUS	1 lab	eb8766da36
6:75834034 COL12A1 A>G	6	75834034	75834034	A	G	COL12A1	c.6661T>C	NM_004370.6	NP_004361.3:p.(Cys2221Arg)	NC_000006.11:g.75834034A>G	(Likely) benign	1 lab	eb706b96ae
10:91007136 LIPA CAAAAAAAAAAA>C	10	91007136	91007168	CAAAAAAAAAAA	C	LIPA	c.111+148_111+158del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007158_91007168del	(Likely) benign	1 lab	eb7751bd69
4:100540259 MTTP A>G	4	100540259	100540259	A	G	MTTP	c.2342+4A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100540259A>G	VUS	1 lab	eb79ce783e
7:91729145 AKAP9 A>G	7	91729145	91729145	A	G	AKAP9	c.10858A>G	NM_005751.5	NP_005742.4:p.(Ile3620Val)	NC_000007.13:g.91729145A>G	(Likely) benign	1 lab	eb79f21d19
20:57429760 GNAS T>A	20	57429760	57429760	T	A	GNAS	c.1253T>A	NM_001077490.3	NP_001070958.1:p.(Leu418Gln)	NC_000020.10:g.57429760T>A	(Likely) benign	1 lab	eb7bd33dbd
19:40359666 FCGBP Ref too long to show for this DEL>T	19	40359666	40393811	Ref too long to show for this DEL	T	FCGBP	c.7594-898_15552+1189del	NM_003890.3	NP_003881.2:p.?	NC_000019.9:g.40359670_40393811del	VUS	1 lab	eb7c070fef
3:42732393 KLHL40 C>T	3	42732393	42732393	C	T	KLHL40	c.1650C>T	NM_152393.4	NP_689606.2:p.(Leu550=)	NC_000003.11:g.42732393C>T	(Likely) benign	1 lab	eb7edbd305
16:57003818 CETP C>G	16	57003818	57003818	C	G	CETP	c.440-8C>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003818C>G	(Likely) benign	1 lab	eb82bafb8a
17:79514258 FAAP100 G>A	17	79514258	79514258	G	A	FAAP100	c.1850C>T	NM_025161.6	NP_079437.5:p.(Ser617Leu)	NC_000017.10:g.79514258G>A	(Likely) benign	1 lab	eb8510cba5
12:56622883 NABP2 A>C	12	56622883	56622883	A	C	NABP2	c.522A>C	NM_024068.4	NP_076973.1:p.(Pro174=)	NC_000012.11:g.56622883A>C	(Likely) benign	1 lab	eb861cdf82
8:134254322 NDRG1 G>A	8	134254322	134254322	G	A	NDRG1	c.892-5C>T	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134254322G>A	(Likely) benign	1 lab	eb869ff9e7
11:125873968 CDON C>G	11	125873968	125873968	C	G	CDON	c.1855G>C	NM_001378964.1	NP_001365893.1:p.(Asp619His)	NC_000011.9:g.125873968C>G	(Likely) benign	1 lab	eb870d0418
17:56787244 RAD51C A>G	17	56787244	56787244	A	G	RAD51C	c.730A>G	NM_058216.3	NP_478123.1:p.(Ile244Val)	NC_000017.10:g.56787244A>G	VUS	1 lab	eb8975b34a
1:6529187 PLEKHG5 C>T	1	6529187	6529187	C	T	PLEKHG5	c.2164G>A	NM_198681.4	NP_941374.3:p.(Glu722Lys)	NC_000001.10:g.6529187C>T	VUS	1 lab	eb899fb69e
3:4821253 ITPR1 TC>T	3	4821253	4821255	TC	T	ITPR1	c.6268del	NM_001168272.2	NP_001161744.1:p.(Leu2090TrpfsTer20)	NC_000003.11:g.4821255del	VUS	1 lab	eb8be56ce9
5:127597141 FBN2 T>C	5	127597141	127597141	T	C	FBN2	c.8364+287A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127597141T>C	(Likely) benign	1 lab	eb8da4e9b5
14:23894191 MYH7 CATGA>C	14	23894191	23894196	CATGA	C	MYH7	c.2462_2465del	NM_000257.4	NP_000248.2:p.(Phe821TrpfsTer9)	NC_000014.8:g.23894193_23894196del	(Likely) benign	1 lab	eb8dc5d619
7:127892220 LEP G>A	7	127892220	127892220	G	A	LEP	c.144+5G>A	NM_000230.3	NP_000221.1:p.?	NC_000007.13:g.127892220G>A	(Likely) benign	1 lab	eb99aa81f4
18:67794981 RTTN G>A	18	67794981	67794981	G	A	RTTN	c.3144-4C>T	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67794981G>A	(Likely) benign	1 lab	eb9a0d1497
X:135432934 ADGRG4 A>Alt too long to show for this DUP	X	135432934	135447221	A	Alt too long to show for this DUP	ADGRG4	c.6727+343_7396+1467dup	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135432935_135447221dup	VUS	1 lab	eba19ed2b8
2:21234890 APOB C>T	2	21234890	21234890	C	T	APOB	c.4850G>A	NM_000384.3	NP_000375.3:p.(Gly1617Glu)	NC_000002.11:g.21234890C>T	VUS	1 lab	eba52a37a7
1:186120312 HMCN1 GT>G	1	186120312	186120321	GT	G	HMCN1	c.14609-11del	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186120321del	(Likely) benign	1 lab	eba53aacce
19:2109970 AP3D1 G>A	19	2109970	2109970	G	A	AP3D1	c.3265-13C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2109970G>A	(Likely) benign	1 lab	eba78b6ce8
15:40327207 EIF2AK4 ATCTTT>A	15	40327207	40327223	ATCTTT	A	EIF2AK4	c.4893-9_4893-5del	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40327219_40327223del	(Likely) benign	1 lab	eba831a79e
3:85899999 CADM2 T>Alt too long to show for this DUP	3	85899999	85996816	T	Alt too long to show for this DUP	CADM2	c.239-32438_791+11809dup	NM_001167675.2	NP_001161147.1:p.?	NC_000003.11:g.85900003_85996816dup	VUS	1 lab	ebaa682775
22:31345821 MORC2 A>C	22	31345821	31345821	A	C	MORC2	c.48T>G	NM_014941.3	NP_055756.1:p.(Ala16=)	NC_000022.10:g.31345821A>C	(Likely) benign	1 lab	ebabddd335
4:9218075 USP17L11 C>T	4	9218075	9218075	C	T	USP17L11	c.945C>T	NM_001256854.1	NP_001243783.1:p.(Leu315=)	NC_000004.11:g.9218075C>T	(Likely) benign	1 lab	ebac1b7526
22:38508210 PLA2G6 G>C	22	38508210	38508210	G	C	PLA2G6	c.1845C>G	NM_001349867.2	NP_001336796.1:p.(Arg615=)	NC_000022.10:g.38508210G>C	(Likely) benign	1 lab	ebb539af87
10:88478521 LDB3 C>A	10	88478521	88478521	C	A	LDB3	c.1910C>A	NM_001171610.2	NP_001165081.1:p.(Thr637Asn)	NC_000010.10:g.88478521C>A	VUS	1 lab	ebb6fcda67
9:107546680 ABCA1 TGA>T	9	107546680	107546685	TGA	T	ABCA1	c.6700_6701del	NM_005502.4	NP_005493.2:p.(Ser2234IlefsTer20)	NC_000009.11:g.107546684_107546685del	(Likely) pathogenic	1 lab	ebbbd6ae50
6:52147661 MCM3 T>G	6	52147661	52147661	T	G	MCM3	c.192-2A>C	NM_002388.6	NP_002379.4:p.?	NC_000006.11:g.52147661T>G	VUS	1 lab	ebbd5b6977
9:107560860 ABCA1 C>G	9	107560860	107560860	C	G	ABCA1	c.4963G>C	NM_005502.4	NP_005493.2:p.(Val1655Leu)	NC_000009.11:g.107560860C>G	(Likely) benign	1 lab	ebbe36e04b
11:15142445 MISSING T>Alt too long to show for this DUP	11	15142445	15443953	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.15142447_15443953dup	VUS	1 lab	ebbe43b943
13:44058161 ENOX1 Ref too long to show for this DEL>G	13	44058161	44216451	Ref too long to show for this DEL	G	ENOX1	c.-219+25164_-92del	NM_001347969.2	NP_001334898.1:p.?	NC_000013.10:g.44058162_44216451del	VUS	1 lab	ebbed70223
2:179669314 TTN T>C	2	179669314	179669314	T	C	TTN	c.56A>G	NM_001267550.2	NP_001254479.2:p.(Glu19Gly)	NC_000002.11:g.179669314T>C	VUS	1 lab	ebc4b7e9d8
17:10426810 MYH2 C>A	17	10426810	10426810	C	A	MYH2	c.5472+3G>T	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10426810C>A	(Likely) benign	1 lab	ebc53ff9d6
2:179427057 TTN G>A	2	179427057	179427057	G	A	TTN	c.83802C>T	NM_001267550.2	NP_001254479.2:p.(Phe27934=)	NC_000002.11:g.179427057G>A	(Likely) benign	1 lab	ebd98ddd47
19:11199917 LDLR C>T	19	11199917	11199917	C	T	LDLR				NC_000019.9:g.11199917C>T	VUS	1 lab	ec325fc501
21:47535841 COL6A2 T>G	21	47535841	47535841	T	G	COL6A2	c.855+2T>G	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47535841T>G	(Likely) pathogenic	1 lab	ebcd2154a2
18:20774374 MISSING Ref too long to show for this DEL>G	18	20774374	24655663	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.20774377_24655663del	(Likely) pathogenic	1 lab	ebcef47633
8:59410863 CYP7A1 G>A	8	59410863	59410863	G	A	CYP7A1	c.246C>T	NM_000780.4	NP_000771.2:p.(Pro82=)	NC_000008.10:g.59410863G>A	(Likely) benign	1 lab	ebcf046b46
17:39912458 JUP G>A	17	39912458	39912458	G	A	JUP	c.2055C>T	NM_001352773.2	NP_001339702.1:p.(Ser685=)	NC_000017.10:g.39912458G>A	(Likely) benign	1 lab	ebd3098d96
X:41333135 NYX AGCCTGCC>A	X	41333135	41333146	AGCCTGCC	A	NYX	c.434_440del	NM_022567.2	NP_072089.1:p.(Cys145SerfsTer38)	NC_000023.10:g.41333140_41333146del	(Likely) pathogenic	1 lab	ebd41426d1
4:15530275 CC2D2A C>G	4	15530275	15530275	C	G	CC2D2A	c.1392C>G	NM_001080522.2	NP_001073991.2:p.(Gly464=)	NC_000004.11:g.15530275C>G	(Likely) benign	1 lab	ebd4aa3ff0
1:150686599 HORMAD1 T>TA	1	150686599	150686609	T	TA	HORMAD1	c.243-3dup	NM_032132.5	NP_115508.2:p.?	NC_000001.10:g.150686609dup	(Likely) benign	1 lab	ebd4cc0cc5
19:11231214 LDLR T>G	19	11231214	11231214	T	G	LDLR	c.2140+16T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231214T>G	(Likely) benign	1 lab	ebd77d4667
X:69898742 TEX11 GAA>G	X	69898742	69898755	GAA	G	TEX11	c.1202-5_1202-4del	NM_001003811.2	NP_001003811.1:p.?	NC_000023.10:g.69898754_69898755del	(Likely) benign	1 lab	ebdf7185ba
17:43706685 MISSING Ref too long to show for this DEL>C	17	43706685	44160003	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.43706686_44160003del	(Likely) pathogenic	1 lab	ebe1ac0213
10:70191619 DNA2 G>A	10	70191619	70191619	G	A	DNA2	c.1983C>T	NM_001080449.3	NP_001073918.2:p.(Leu661=)	NC_000010.10:g.70191619G>A	VUS	1 lab	ebe38611d3
11:34352435 ABTB2 Ref too long to show for this DEL>A	11	34352435	34373829	Ref too long to show for this DEL	A	ABTB2	c.883+4420_883+25812del	NM_145804.3	NP_665803.2:p.?	NC_000011.9:g.34352437_34373829del	VUS	1 lab	ebe412486d
7:154587793 DPP6 A>G	7	154587793	154587793	A	G	DPP6	c.1307A>G	NM_001364501.2	NP_001351430.1:p.(Gln436Arg)	NC_000007.13:g.154587793A>G	(Likely) benign	1 lab	ebe497b4c2
1:12058916 MFN2 A>C	1	12058916	12058916	A	C	MFN2	c.689A>C	NM_014874.4	NP_055689.1:p.(Glu230Ala)	NC_000001.10:g.12058916A>C	(Likely) pathogenic	1 lab	ebe679311d
10:73767962 CHST3 C>A	10	73767962	73767962	C	A	CHST3	c.1173C>A	NM_004273.5	NP_004264.2:p.(Ile391=)	NC_000010.10:g.73767962C>A	(Likely) benign	1 lab	ebe78eeea3
6:32016286 TNXB T>C	6	32016286	32016286	T	C	TNXB	c.9893A>G	NM_019105.8	NP_061978.6:p.(Gln3298Arg)	NC_000006.11:g.32016286T>C	VUS	1 lab	ebe828f556
18:10696534 PIEZO2 C>T	18	10696534	10696534	C	T	PIEZO2	c.6492G>A	NM_022068.4	NP_071351.2:p.(Thr2164=)	NC_000018.9:g.10696534C>T	(Likely) benign	1 lab	ebef765b65
X:55185632 VCF2 C>A	X	55185632	55185632	C	A	VCF2	c.47G>T	NM_001166703.2	NP_001160175.1:p.(Gly16Val)	NC_000023.10:g.55185632C>A	(Likely) benign	1 lab	ebf01a050c
4:106395148 PPA2 C>T	4	106395148	106395148	C	T	PPA2	c.60G>A	NM_176869.3	NP_789845.1:p.(Leu20=)	NC_000004.11:g.106395148C>T	(Likely) benign	1 lab	ebf0d24eda
2:21239334 APOB C>T	2	21239334	21239334	C	T	APOB	c.3309G>A	NM_000384.3	NP_000375.3:p.(Glu1103=)	NC_000002.11:g.21239334C>T	(Likely) benign	1 lab	ebf2ef8797
1:25891971 LDLRAP1 C>T	1	25891971	25891971	C	T	LDLRAP1	c.782+273C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891971C>T	(Likely) benign	1 lab	ebf3e50177
8:19816891 LPL T>C	8	19816891	19816891	T	C	LPL	c.1139T>C	NM_000237.3	NP_000228.1:p.(Leu380Pro)	NC_000008.10:g.19816891T>C	(Likely) pathogenic	1 lab	ebf54beeb6
X:139586893 SOX3 C>T	X	139586893	139586893	C	T	SOX3	c.333G>A	NM_005634.3	NP_005625.2:p.(Ala111=)	NC_000023.10:g.139586893C>T	(Likely) benign	1 lab	ebf70885c0
9:133579069 EXOSC2 T>C	9	133579069	133579069	T	C	EXOSC2	c.802-12T>C	NM_014285.7	NP_055100.2:p.?	NC_000009.11:g.133579069T>C	(Likely) benign	1 lab	ebf9a48a04
11:47356939 MYBPC3 C>T	11	47356939	47356939	C	T	MYBPC3	c.2738-179G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356939C>T	(Likely) benign	1 lab	ebfa09bfb9
2:44102993 ABCG8 C>T	2	44102993	44102993	C	T	ABCG8	c.1756+441C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102993C>T	(Likely) benign	1 lab	ebfb4407d0
10:121435798 BAG3 G>T	10	121435798	121435798	G	T	BAG3	c.910-178G>T	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121435798G>T	(Likely) benign	1 lab	ebfb87b3ea
8:19809290 LPL T>A	8	19809290	19809290	T	A	LPL	c.260T>A	NM_000237.3	NP_000228.1:p.(Met87Lys)	NC_000008.10:g.19809290T>A	VUS	1 lab	ebfca2af7b
2:179424834 TTN C>T	2	179424834	179424834	C	T	TTN	c.86025G>A	NM_001267550.2	NP_001254479.2:p.(Pro28675=)	NC_000002.11:g.179424834C>T	(Likely) benign	1 lab	ec01726765
2:179600812 TTN A>G	2	179600812	179600812	A	G	TTN	c.14372-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179600812A>G	(Likely) benign	1 lab	ec0c55602b
17:59926628 BRIP1 T>C	17	59926628	59926628	T	C	BRIP1	c.380-11A>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59926628T>C	VUS	1 lab	ec11de125e
17:34823202 MISSING Ref too long to show for this DEL>C	17	34823202	36283612	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.34823204_36283612del	(Likely) pathogenic	1 lab	ec12b287fb
5:82835999 VCAN G>A	5	82835999	82835999	G	A	VCAN	c.7177G>A	NM_004385.5	NP_004376.2:p.(Glu2393Lys)	NC_000005.9:g.82835999G>A	(Likely) benign	1 lab	ec1431b345
4:100521403 MTTP T>G	4	100521403	100521403	T	G	MTTP	c.1068-319T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521403T>G	(Likely) benign	1 lab	ec1446d5fe
17:56770035 RAD51C C>T	17	56770035	56770035	C	T	RAD51C	c.31C>T	NM_058216.3	NP_478123.1:p.(Gln11Ter)	NC_000017.10:g.56770035C>T	(Likely) pathogenic	1 lab	ec157a8e8d
14:76447386 TGFB3 T>C	14	76447386	76447386	T	C	TGFB3	c.-150A>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76447386T>C	(Likely) benign	1 lab	ec15e79351
X:70443621 GJB1 C>G	X	70443621	70443621	C	G	GJB1	c.64C>G	NM_000166.6	NP_000157.1:p.(Arg22Gly)	NC_000023.10:g.70443621C>G	(Likely) pathogenic	1 lab	ec1631a8c6
2:44101214 ABCG8 CA>C	2	44101214	44101215	CA	C	ABCG8	c.1411+90del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101215del	(Likely) benign	1 lab	ec18ba39f1
8:119123169 EXT1 T>C	8	119123169	119123169	T	C	EXT1	c.117A>G	NM_000127.3	NP_000118.2:p.(Glu39=)	NC_000008.10:g.119123169T>C	(Likely) benign	1 lab	ec2192b9f8
8:126117807 NSMCE2 Ref too long to show for this DEL>G	8	126117807	126245536	Ref too long to show for this DEL	G	NSMCE2	c.157+3083_418+51038del	NM_173685.4	NP_775956.1:p.?	NC_000008.10:g.126117812_126245536del	VUS	1 lab	ec252aed08
1:160208472 DCAF8 T>C	1	160208472	160208472	T	C	DCAF8	c.789A>G	NM_015726.4	NP_056541.2:p.(Arg263=)	NC_000001.10:g.160208472T>C	(Likely) benign	1 lab	ec258b598a
1:3313144 PRDM16 G>A	1	3313144	3313144	G	A	PRDM16	c.663G>A	NM_022114.4	NP_071397.3:p.(Pro221=)	NC_000001.10:g.3313144G>A	(Likely) benign	1 lab	ec2d21764a
16:89998958 TUBB3 C>G	16	89998958	89998958	C	G	TUBB3	c.-159-21C>G	NM_001197181.2	NP_001184110.1:p.?	NC_000016.9:g.89998958C>G	(Likely) benign	1 lab	ec30c9a15f
3:38620953 SCN5A C>T	3	38620953	38620953	C	T	SCN5A	c.3262G>A	NM_198056.3	NP_932173.1:p.(Ala1088Thr)	NC_000003.11:g.38620953C>T	VUS	1 lab	ec3146d0ec
15:82422587 MISSING T>Alt too long to show for this DUP	15	82422587	82664440	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.82422588_82664440dup	VUS	1 lab	ec31b89dbb
11:47359057 MYBPC3 C>A	11	47359057	47359057	C	A	MYBPC3	c.2487G>T	NM_000256.3	NP_000247.2:p.(Leu829=)	NC_000011.9:g.47359057C>A	(Likely) benign	1 lab	ec3202c1ba
11:65307867 LTBP3 A>AAGCGTGGGT	11	65307867	65307879	A	AAGCGTGGGT	LTBP3	c.3107-23_3107-15dup	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307871_65307879dup	(Likely) benign	1 lab	ec33d119a6
11:95569292 MTMR2 GTATATT>G	11	95569292	95569298	GTATATT	G	MTMR2	c.1554+14_1554+19del	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95569293_95569298del	(Likely) benign	1 lab	ec3bbb204c
2:238449163 MLPH A>G	2	238449163	238449163	A	G	MLPH	c.1277A>G	NM_024101.7	NP_077006.1:p.(Gln426Arg)	NC_000002.11:g.238449163A>G	VUS	1 lab	ec4074a6c8
21:45753065 CFAP410 G>A	21	45753065	45753065	G	A	CFAP410	c.224C>T	NM_001271441.2	NP_001258370.1:p.(Pro75Leu)	NC_000021.8:g.45753065G>A	VUS	1 lab	ec43aaa183
X:153792412 MISSING T>Alt too long to show for this DUP	X	153792412	153990424	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153792413_153990424dup	VUS	1 lab	ec44e60b0a
18:47107999 LIPG A>G	18	47107999	47107999	A	G	LIPG	c.1008A>G	NM_006033.4	NP_006024.1:p.(Leu336=)	NC_000018.9:g.47107999A>G	(Likely) benign	1 lab	ec452252d3
14:23855818 MYH6 G>T	14	23855818	23855818	G	T	MYH6	c.4665C>A	NM_002471.4	NP_002462.2:p.(His1555Gln)	NC_000014.8:g.23855818G>T	VUS	1 lab	ec45869cd8
8:27461789 CLU G>C	8	27461789	27461789	G	C	CLU	c.934+19C>G	NM_001831.4	NP_001822.3:p.?	NC_000008.10:g.27461789G>C	(Likely) benign	1 lab	ec4842902b
X:135429117 ADGRG4 G>A	X	135429117	135429117	G	A	ADGRG4	c.3252G>A	NM_153834.4	NP_722576.3:p.(Leu1084=)	NC_000023.10:g.135429117G>A	(Likely) benign	1 lab	ec492c79d4
16:2963660 FLYWCH1 Ref too long to show for this DEL>A	16	2963660	2998862	Ref too long to show for this DEL	A	FLYWCH1	c.-187-514_*134del	NM_001308068.2	NP_001294997.1:p.0?	NC_000016.9:g.2963663_2998862del	VUS	1 lab	ec49668745
17:15163989 PMP22 A>G	17	15163989	15163989	A	G	PMP22	c.56T>C	NM_000304.4	NP_000295.1:p.(Leu19Pro)	NC_000017.10:g.15163989A>G	(Likely) pathogenic	1 lab	ec4c57c0fe
9:133556949 PRDM12 C>A	9	133556949	133556949	C	A	PRDM12	c.997C>A	NM_021619.3	NP_067632.2:p.(His333Asn)	NC_000009.11:g.133556949C>A	VUS	1 lab	ec4e6d0f86
2:50871869 NRXN1 Ref too long to show for this DEL>G	2	50871869	50937644	Ref too long to show for this DEL	G	NRXN1	c.833-86891_833-21117del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50871870_50937644del	VUS	1 lab	ec4eaf75e7
12:118293303 KSR2 G>A	12	118293303	118293303	G	A	KSR2	c.402C>T	NM_173598.6	NP_775869.4:p.(Tyr134=)	NC_000012.11:g.118293303G>A	(Likely) benign	1 lab	ec5129836a
15:58852922 LIPC A>C	15	58852922	58852922	A	C	LIPC	c.1052-141A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852922A>C	(Likely) benign	1 lab	ec53458497
22:39675855 MISSING C>Alt too long to show for this DUP	22	39675855	39771301	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.39675856_39771301dup	(Likely) pathogenic	1 lab	ec5528aee8
2:21234118 APOB C>T	2	21234118	21234118	C	T	APOB	c.5622G>A	NM_000384.3	NP_000375.3:p.(Gly1874=)	NC_000002.11:g.21234118C>T	(Likely) benign	1 lab	ec567b5c8c
19:50728855 MYH14 G>A	19	50728855	50728855	G	A	MYH14	c.731G>A	NM_001145809.2	NP_001139281.1:p.(Arg244Gln)	NC_000019.9:g.50728855G>A	VUS	1 lab	ec5b49ece9
2:240003852 HDAC4 G>A	2	240003852	240003852	G	A	HDAC4	c.2583C>T	NM_006037.4	NP_006028.2:p.(Ser861=)	NC_000002.11:g.240003852G>A	(Likely) benign	1 lab	ec61f970c5
12:48380210 COL2A1 T>TGGGGGCCAGC	12	48380210	48380220	T	TGGGGGCCAGC	COL2A1	c.1426_1435dup	NM_001844.5	NP_001835.3:p.(Gln479ArgfsTer12)	NC_000012.11:g.48380211_48380220dup	(Likely) pathogenic	1 lab	ec62649019
9:107574874 ABCA1 C>T	9	107574874	107574874	C	T	ABCA1	c.4031G>A	NM_005502.4	NP_005493.2:p.(Arg1344Gln)	NC_000009.11:g.107574874C>T	VUS	1 lab	ec654beee6
16:1004610 LMF1 G>T	16	1004610	1004610	G	T	LMF1	c.250C>A	NM_022773.4	NP_073610.2:p.(Leu84Met)	NC_000016.9:g.1004610G>T	VUS	1 lab	ec661d8cc3
9:137630361 COL5A1 G>A	9	137630361	137630361	G	A	COL5A1	c.1431G>A	NM_000093.5	NP_000084.3:p.(Ala477=)	NC_000009.11:g.137630361G>A	(Likely) benign	1 lab	ec6868bd1f
2:169851971 ABCB11 C>A	2	169851971	169851971	C	A	ABCB11	c.499G>T	NM_003742.4	NP_003733.2:p.(Ala167Ser)	NC_000002.11:g.169851971C>A	(Likely) benign	1 lab	ec69252ebe
14:23876212 MYH6 C>T	14	23876212	23876212	C	T	MYH6	c.201+20G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23876212C>T	(Likely) benign	1 lab	ec693a79df
3:48613676 COL7A1 G>T	3	48613676	48613676	G	T	COL7A1	c.5820+6C>A	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48613676G>T	(Likely) benign	1 lab	ec6c0122c7
5:7895942 MTRR G>A	5	7895942	7895942	G	A	MTRR	c.1653G>A	NM_002454.3	NP_002445.2:p.(Pro551=)	NC_000005.9:g.7895942G>A	(Likely) benign	1 lab	ef9010a4ba
10:52569666 A1CF TAGC>T	10	52569666	52569683	TAGC	T	A1CF	c.1642_1644del	NM_001198819.2	NP_001185748.1:p.(Ala548del)	NC_000010.10:g.52569681_52569683del	(Likely) benign	1 lab	ec738bfaf9
2:44052160 ABCG5 G>C	2	44052160	44052160	G	C	ABCG5	c.775-3C>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052160G>C	(Likely) pathogenic	1 lab	ec7892aad1
8:11145006 MISSING Ref too long to show for this DEL>C	8	11145006	11291512	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.11145007_11291512del	(Likely) pathogenic	1 lab	ec78a0a515
10:112540688 RBM20 G>C	10	112540688	112540688	G	C	RBM20	c.321G>C	NM_001134363.3	NP_001127835.2:p.(Gln107His)	NC_000010.10:g.112540688G>C	VUS	1 lab	ec7cdec993
19:11221369 LDLR G>A	19	11221369	11221369	G	A	LDLR	c.982G>A	NM_000527.5	NP_000518.1:p.(Val328Ile)	NC_000019.9:g.11221369G>A	VUS	1 lab	ec7e917a09
5:178413689 GRM6 G>A	5	178413689	178413689	G	A	GRM6	c.1566C>T	NM_000843.4	NP_000834.2:p.(Cys522=)	NC_000005.9:g.178413689G>A	(Likely) benign	1 lab	ec84dfdfc4
4:155527899 FGG T>C	4	155527899	155527899	T	C	FGG	c.1087A>G	NM_021870.3	NP_068656.2:p.(Asn363Asp)	NC_000004.11:g.155527899T>C	(Likely) pathogenic	1 lab	ec8516f226
8:100155332 VPS13B T>C	8	100155332	100155332	T	C	VPS13B	c.1782T>C	NM_017890.5	NP_060360.3:p.(Ile594=)	NC_000008.10:g.100155332T>C	(Likely) benign	1 lab	ec851a576e
14:81609974 TSHR C>G	14	81609974	81609974	C	G	TSHR	c.1572C>G	NM_000369.5	NP_000360.2:p.(Thr524=)	NC_000014.8:g.81609974C>G	(Likely) benign	1 lab	ec870be9a3
1:20972373 PINK1 CG>C	1	20972373	20972377	CG	C	PINK1	c.1123+161del	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20972377del	(Likely) benign	1 lab	ec88b37e39
16:904529 LMF1 C>T	16	904529	904529	C	T	LMF1	c.1627G>A	NM_001352020.1	NP_001338949.1:p.(Val543Met)	NC_000016.9:g.904529C>T	(Likely) benign	1 lab	ec8b7f18f1
1:12034425 PLOD1 A>C	1	12034425	12034425	A	C	PLOD1	c.2029-285A>C	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12034425A>C	(Likely) benign	1 lab	ec8c62a9ec
11:88911798 TYR CAGG>C	11	88911798	88911803	CAGG	C	TYR	c.680_682del	NM_000372.5	NP_000363.1:p.(Gly227del)	NC_000011.9:g.88911801_88911803del	(Likely) pathogenic	1 lab	ec90490f7f
2:179542535 TTN C>G	2	179542535	179542535	C	G	TTN	c.34104G>C	NM_001267550.2	NP_001254479.2:p.(Glu11368Asp)	NC_000002.11:g.179542535C>G	VUS	1 lab	ec91fec698
2:27706178 IFT172 T>A	2	27706178	27706178	T	A	IFT172	c.548A>T	NM_015662.3	NP_056477.1:p.(Asp183Val)	NC_000002.11:g.27706178T>A	VUS	1 lab	ec98190f31
18:12377097 AFG3L2 C>T	18	12377097	12377097	C	T	AFG3L2	c.-16G>A	NM_006796.3	NP_006787.2:p.?	NC_000018.9:g.12377097C>T	(Likely) benign	1 lab	ec99242071
9:97888833 FANCC G>A	9	97888833	97888833	G	A	FANCC	c.874C>T	NM_000136.3	NP_000127.2:p.(Arg292Trp)	NC_000009.11:g.97888833G>A	VUS	1 lab	ec9a6ca92e
1:35251127 GJB3 C>G	1	35251127	35251127	C	G	GJB3	c.764C>G	NM_024009.3	NP_076872.1:p.(Pro255Arg)	NC_000001.10:g.35251127C>G	VUS	1 lab	ec9ac0d6df
9:35720795 TLN1 C>T	9	35720795	35720795	C	T	TLN1	c.1206+14G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35720795C>T	(Likely) benign	1 lab	ec9ad257f1
11:68679007 IGHMBP2 C>T	11	68679007	68679007	C	T	IGHMBP2	c.647C>T	NM_002180.3	NP_002171.2:p.(Pro216Leu)	NC_000011.9:g.68679007C>T	(Likely) pathogenic	1 lab	ec9b6f0e38
8:113841971 CSMD3 A>G	8	113841971	113841971	A	G	CSMD3	c.1803T>C	NM_198123.2	NP_937756.1:p.(Asp601=)	NC_000008.10:g.113841971A>G	(Likely) benign	1 lab	ec9dc9552a
6:16147098 MYLIP T>TAA	6	16147098	16147112	T	TAA	MYLIP	c.*129_*130dup	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16147111_16147112dup	(Likely) benign	1 lab	ec9e99a132
20:10622555 JAG1 C>T	20	10622555	10622555	C	T	JAG1	c.2573-15G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622555C>T	(Likely) benign	1 lab	ec9fc50cd7
1:6528615 PLEKHG5 T>C	1	6528615	6528615	T	C	PLEKHG5	c.2281A>G	NM_198681.4	NP_941374.3:p.(Met761Val)	NC_000001.10:g.6528615T>C	VUS	1 lab	eca0401d2e
16:88499744 ZNF469 C>T	16	88499744	88499744	C	T	ZNF469	c.5866C>T	NM_001367624.2	NP_001354553.1:p.(Gln1956Ter)	NC_000016.9:g.88499744C>T	(Likely) pathogenic	1 lab	eca4830ada
11:2905346 CDKN1C T>C	11	2905346	2905346	T	C	CDKN1C	c.839A>G	NM_000076.2	NP_000067.1:p.(Lys280Arg)	NC_000011.9:g.2905346T>C	VUS	1 lab	f0947d0323
14:64678765 SYNE2 C>T	14	64678765	64678765	C	T	SYNE2	c.18810C>T	NM_182914.3	NP_878918.2:p.(Asn6270=)	NC_000014.8:g.64678765C>T	(Likely) benign	1 lab	ecaf20edb6
12:50498482 GPD1 C>G	12	50498482	50498482	C	G	GPD1	c.167C>G	NM_005276.4	NP_005267.2:p.(Thr56Arg)	NC_000012.11:g.50498482C>G	VUS	1 lab	ecaf4b104a
9:138660709 KCNT1 A>G	9	138660709	138660709	A	G	KCNT1	c.1436A>G	NM_020822.3	NP_065873.2:p.(Lys479Arg)	NC_000009.11:g.138660709A>G	(Likely) benign	1 lab	ecaf61115a
7:138545904 KIAA1549 G>A	7	138545904	138545904	G	A	KIAA1549	c.5228C>T	NM_001164665.2	NP_001158137.1:p.(Thr1743Met)	NC_000007.13:g.138545904G>A	(Likely) benign	1 lab	ecafb5ce5c
3:123428829 MYLK T>G	3	123428829	123428829	T	G	MYLK	c.1805-89A>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123428829T>G	(Likely) benign	1 lab	ecb110795e
2:24964895 NCOA1 T>C	2	24964895	24964895	T	C	NCOA1	c.3546T>C	NM_001362950.1	NP_001349879.1:p.(Ala1182=)	NC_000002.11:g.24964895T>C	(Likely) benign	1 lab	ecb4b2ff1c
2:179432127 TTN GTTCT>G	2	179432127	179432133	GTTCT	G	TTN	c.78728_78731del	NM_001267550.2	NP_001254479.2:p.(Lys26243ThrfsTer10)	NC_000002.11:g.179432130_179432133del	(Likely) pathogenic	1 lab	ecb6fbd662
2:179560689 TTN G>A	2	179560689	179560689	G	A	TTN	c.31110C>T	NM_001267550.2	NP_001254479.2:p.(Tyr10370=)	NC_000002.11:g.179560689G>A	(Likely) benign	1 lab	ecbd2c3f09
3:132165413 DNAJC13 G>A	3	132165413	132165413	G	A	DNAJC13	c.144+19G>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132165413G>A	(Likely) benign	1 lab	ecbd4e3e01
12:123741386 MTRFR G>A	12	123741386	123741386	G	A	MTRFR	c.309G>A	NM_001194995.1	NP_001181924.1:p.(Gln103=)	NC_000012.11:g.123741386G>A	(Likely) benign	1 lab	ecbec0ece8
X:118682560 STEEP1 A>Alt too long to show for this DUP	X	118682560	118698121	A	Alt too long to show for this DUP	STEEP1	c.124+1074_243-3094dup	NM_022101.4	NP_071384.1:p.?	NC_000023.10:g.118682561_118698121dup	VUS	1 lab	eccaf96d93
8:10469766 RP1L1 G>T	8	10469766	10469766	G	T	RP1L1	c.1842C>A	NM_178857.6	NP_849188.4:p.(Gly614=)	NC_000008.10:g.10469766G>T	(Likely) benign	1 lab	eccb95e20f
6:15374391 JARID2 Ref too long to show for this DEL>G	6	15374391	15405436	Ref too long to show for this DEL	G	JARID2	c.90_182-5019del	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15374392_15405436del	(Likely) pathogenic	1 lab	eccce00dce
2:86431620 MISSING Ref too long to show for this DEL>G	2	86431620	86463361	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.86431621_86463361del	(Likely) pathogenic	1 lab	eccec40b68
9:137654053 COL5A1 T>C	9	137654053	137654053	T	C	COL5A1	c.1989+229T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137654053T>C	(Likely) benign	1 lab	ecd2dceeeb
5:177419857 PROP1 C>T	5	177419857	177419857	C	T	PROP1	c.534G>A	NM_006261.5	NP_006252.4:p.(Gln178=)	NC_000005.9:g.177419857C>T	(Likely) benign	1 lab	ecd5cc218d
1:66083654 LEPR C>T	1	66083654	66083654	C	T	LEPR	c.2220C>T	NM_001003679.3	NP_001003679.1:p.(Ile740=)	NC_000001.10:g.66083654C>T	(Likely) benign	1 lab	ecd84eefcd
2:54671430 MISSING Ref too long to show for this DEL>A	2	54671430	54708930	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.54671433_54708930del	(Likely) pathogenic	1 lab	ecd917aa82
15:23892442 MAGEL2 A>G	15	23892442	23892442	A	G	MAGEL2	c.448T>C	NM_019066.5	NP_061939.3:p.(Ser150Pro)	NC_000015.9:g.23892442A>G	(Likely) benign	1 lab	ecdb95abed
5:37201785 CPLANE1 C>G	5	37201785	37201785	C	G	CPLANE1	c.3415G>C	NM_023073.4	NP_075561.3:p.(Asp1139His)	NC_000005.9:g.37201785C>G	(Likely) benign	1 lab	ecdc18c27b
5:83099822 MISSING Ref too long to show for this DEL>A	5	83099822	83782846	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.83099823_83782846del	VUS	1 lab	ece052bb61
15:23891259 MAGEL2 G>A	15	23891259	23891259	G	A	MAGEL2	c.1631C>T	NM_019066.5	NP_061939.3:p.(Thr544Met)	NC_000015.9:g.23891259G>A	VUS	1 lab	ece2c01bc6
2:21235365 APOB T>C	2	21235365	21235365	T	C	APOB	c.4375A>G	NM_000384.3	NP_000375.3:p.(Ser1459Gly)	NC_000002.11:g.21235365T>C	VUS	1 lab	ece3b49af1
2:179462354 TTN TTCTTG>T	2	179462354	179462359	TTCTTG	T	TTN	c.57450_57454del	NM_001267550.2	NP_001254479.2:p.(Lys19151LeufsTer16)	NC_000002.11:g.179462355_179462359del	(Likely) benign	1 lab	ece55386c2
15:22807476 MISSING Ref too long to show for this DEL>C	15	22807476	23233568	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22807477_23233568del	(Likely) pathogenic	1 lab	ecec3561ec
9:137644277 COL5A1 G>C	9	137644277	137644277	G	C	COL5A1	c.1663-158G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137644277G>C	(Likely) benign	1 lab	eceda7010d
1:236883476 ACTN2 G>T	1	236883476	236883476	G	T	ACTN2	c.433G>T	NM_001103.4	NP_001094.1:p.(Asp145Tyr)	NC_000001.10:g.236883476G>T	VUS	1 lab	ecf11990cd
13:32907502 BRCA2 T>TAG	13	32907502	32907504	T	TAG	BRCA2	c.1888_1889insGA	NM_000059.4	NP_000050.3:p.(Thr630ArgfsTer15)	NC_000013.10:g.32907503_32907504insGA	(Likely) pathogenic	1 lab	ecf15e8cc3
9:130442467 STXBP1 ACTACCCTTATATCT>A	9	130442467	130442487	ACTACCCTTATATCT	A	STXBP1	c.1500_1513del	NM_001032221.6	NP_001027392.1:p.(Tyr501PhefsTer19)	NC_000009.11:g.130442474_130442487del	(Likely) pathogenic	1 lab	ecf28f93cf
17:48433128 XYLT2 T>TG	17	48433128	48433129	T	TG	XYLT2	c.1089-14_1089-13insG	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48433128_48433129insG	(Likely) benign	1 lab	ecf30f6850
9:136219594 SURF1 G>A	9	136219594	136219594	G	A	SURF1	c.543C>T	NM_003172.4	NP_003163.1:p.(Phe181=)	NC_000009.11:g.136219594G>A	(Likely) benign	1 lab	ecf3b55728
19:45452082 APOC2 G>A	19	45452082	45452082	G	A	APOC2	c.180G>A	NM_000483.5	NP_000474.2:p.(Glu60=)	NC_000019.9:g.45452082G>A	(Likely) benign	1 lab	ecf477b78b
11:112099410 PTS T>C	11	112099410	112099410	T	C	PTS	c.163+14T>C	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099410T>C	(Likely) benign	1 lab	ecf52cd8aa
15:44952794 SPG11 C>T	15	44952794	44952794	C	T	SPG11	c.278G>A	NM_025137.4	NP_079413.3:p.(Arg93His)	NC_000015.9:g.44952794C>T	VUS	1 lab	ecf5abaff2
14:97304085 VRK1 A>G	14	97304085	97304085	A	G	VRK1	c.161-14A>G	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97304085A>G	(Likely) benign	1 lab	ecf7d6517a
16:57007353 CETP C>T	16	57007353	57007353	C	T	CETP	c.861C>T	NM_000078.3	NP_000069.2:p.(Phe287=)	NC_000016.9:g.57007353C>T	(Likely) benign	1 lab	ecf983e99d
19:50796567 MYH14 T>C	19	50796567	50796567	T	C	MYH14	c.5334T>C	NM_001145809.2	NP_001139281.1:p.(Gly1778=)	NC_000019.9:g.50796567T>C	(Likely) benign	1 lab	ecfca5adc3
9:107591400 ABCA1 G>A	9	107591400	107591400	G	A	ABCA1	c.1912C>T	NM_005502.4	NP_005493.2:p.(Arg638Trp)	NC_000009.11:g.107591400G>A	VUS	1 lab	ecfd4307e7
12:110221488 TRPV4 G>A	12	110221488	110221488	G	A	TRPV4	c.2554C>T	NM_021625.5	NP_067638.3:p.(Arg852Cys)	NC_000012.11:g.110221488G>A	VUS	1 lab	ed004bdf3f
15:48737952 FBN1 G>T	15	48737952	48737952	G	T	FBN1	c.5789-251C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48737952G>T	(Likely) benign	1 lab	ed00b3a2c8
2:179400743 TTN TC>T	2	179400743	179400748	TC	T	TTN	c.100730del	NM_001267550.2	NP_001254479.2:p.(Gly33577AspfsTer50)	NC_000002.11:g.179400748del	(Likely) pathogenic	1 lab	ed045c92eb
1:244218301 ZBTB18 C>T	1	244218301	244218301	C	T	ZBTB18	c.1198C>T	NM_006352.4	NP_006343.2:p.(Arg400Cys)	NC_000001.10:g.244218301C>T	VUS	1 lab	ed0686fcfe
13:113201852 TUBGCP3 ATGGGAAAGTCGCGCG>A	13	113201852	113201905	ATGGGAAAGTCGCGCG	A	TUBGCP3	c.1235_1249del	NM_001286279.2	NP_001273208.1:p.(Thr412_Pro416del)	NC_000013.10:g.113201891_113201905del	(Likely) benign	1 lab	ed0a768937
15:62223273 VPS13C C>T	15	62223273	62223273	C	T	VPS13C	c.6038+16G>A	NM_001018088.3	NP_001018098.1:p.?	NC_000015.9:g.62223273C>T	(Likely) benign	1 lab	ed0c3f5c5e
8:75276388 GDAP1 C>CA	8	75276388	75276389	C	CA	GDAP1	c.864dup	NM_018972.4	NP_061845.2:p.(Phe289IlefsTer2)	NC_000008.10:g.75276389dup	(Likely) pathogenic	1 lab	ed11b85122
X:50341364 SHROOM4 G>A	X	50341364	50341364	G	A	SHROOM4	c.4114C>T	NM_020717.4	NP_065768.2:p.(Leu1372=)	NC_000023.10:g.50341364G>A	(Likely) benign	1 lab	ed12004d95
5:149437098 CSF1R G>A	5	149437098	149437098	G	A	CSF1R	c.2190C>T	NM_005211.4	NP_005202.2:p.(Ser730=)	NC_000005.9:g.149437098G>A	(Likely) benign	1 lab	ed1273c87c
17:17127350 FLCN G>A	17	17127350	17127350	G	A	FLCN	c.504C>T	NM_144997.7	NP_659434.2:p.(Arg168=)	NC_000017.10:g.17127350G>A	(Likely) benign	1 lab	ed1429ed35
9:107556417 ABCA1 C>A	9	107556417	107556417	C	A	ABCA1	c.5506+251G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556417C>A	(Likely) benign	1 lab	ed161f3177
12:21370041 SLCO1B1 A>G	12	21370041	21370041	A	G	SLCO1B1	c.1498-12A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370041A>G	(Likely) benign	1 lab	ed17db35bf
1:161277122 MPZ A>G	1	161277122	161277122	A	G	MPZ	c.160T>C	NM_000530.8	NP_000521.2:p.(Ser54Pro)	NC_000001.10:g.161277122A>G	(Likely) pathogenic	1 lab	ed1e0b0b4d
9:107595210 ABCA1 G>A	9	107595210	107595210	G	A	ABCA1	c.1312-158C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595210G>A	(Likely) benign	1 lab	ed1e2880d0
6:33379357 MISSING T>Alt too long to show for this DUP	6	33379357	33389795	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.33379360_33389795dup	VUS	1 lab	ed2093db3c
19:57743437 AURKC TC>T	19	57743437	57743441	TC	T	AURKC	c.145del	NM_001015878.2	NP_001015878.1:p.(Leu49TrpfsTer23)	NC_000019.9:g.57743441del	(Likely) pathogenic	1 lab	ed26148ecf
1:74665493 FPGT G>A	1	74665493	74665493	G	A	FPGT	c.228G>A	NM_003838.5	NP_003829.4:p.(Val76=)	NC_000001.10:g.74665493G>A	(Likely) benign	1 lab	ed28c77961
2:179483506 TTN A>G	2	179483506	179483506	A	G	TTN	c.46771T>C	NM_001267550.2	NP_001254479.2:p.(Tyr15591His)	NC_000002.11:g.179483506A>G	VUS	1 lab	ed295ac0a2
2:21238301 APOB A>T	2	21238301	21238301	A	T	APOB	c.3449T>A	NM_000384.3	NP_000375.3:p.(Met1150Lys)	NC_000002.11:g.21238301A>T	VUS	1 lab	ed2b7157b0
5:67589188 PIK3R1 C>T	5	67589188	67589188	C	T	PIK3R1	c.1176C>T	NM_181523.3	NP_852664.1:p.(Phe392=)	NC_000005.9:g.67589188C>T	(Likely) benign	1 lab	ed2c84deb2
1:198611793 PTPRC Ref too long to show for this DEL>T	1	198611793	198649554	Ref too long to show for this DEL	T	PTPRC	c.73+3324_74-11922del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198611795_198649554del	VUS	1 lab	ed2fa07430
11:31811460 PAX6 C>CTTT	11	31811460	31811483	C	CTTT	PAX6	c.1260_1261insAAA	NM_000280.5	NP_000271.1:p.(Arg420_Leu421insLys)	NC_000011.9:g.31811481_31811483dup	(Likely) benign	1 lab	ed31eb34cb
3:38597474 SCN5A T>C	3	38597474	38597474	T	C	SCN5A	c.4438-223A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597474T>C	(Likely) benign	1 lab	ed3467be1a
X:66765158 AR T>TGCAGCAGCAGCA	X	66765158	66765227	T	TGCAGCAGCAGCA	AR	c.228_239dup	NM_000044.6	NP_000035.2:p.(Gln77_Gln80dup)	NC_000023.10:g.66765216_66765227dup	(Likely) benign	1 lab	ed346863ae
2:21224925 APOB C>T	2	21224925	21224925	C	T	APOB	c.13369G>A	NM_000384.3	NP_000375.3:p.(Asp4457Asn)	NC_000002.11:g.21224925C>T	VUS	1 lab	ed350cd628
3:38591655 SCN5A C>T	3	38591655	38591655	C	T	SCN5A	c.*157G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38591655C>T	(Likely) benign	1 lab	ed36746bf5
12:2693661 CACNA1C A>C	12	2693661	2693661	A	C	CACNA1C	c.2225-8A>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2693661A>C	(Likely) benign	1 lab	ed371b28df
19:55377325 KIR3DL2 C>T	19	55377325	55377325	C	T	KIR3DL2	c.1066C>T	NM_006737.4	NP_006728.2:p.(Leu356Phe)	NC_000019.9:g.55377325C>T	(Likely) benign	1 lab	ed37756f33
8:19818740 LPL GTCT>G	8	19818740	19818747	GTCT	G	LPL	c.1322+151_1322+153del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818745_19818747del	(Likely) benign	1 lab	ed38da74ea
2:44099211 ABCG8 G>T	2	44099211	44099211	G	T	ABCG8	c.1061G>T	NM_022437.3	NP_071882.1:p.(Arg354Leu)	NC_000002.11:g.44099211G>T	VUS	1 lab	ed41091f85
11:47370080 MYBPC3 C>T	11	47370080	47370080	C	T	MYBPC3	c.667G>A	NM_000256.3	NP_000247.2:p.(Glu223Lys)	NC_000011.9:g.47370080C>T	VUS	1 lab	ed425bafde
13:32910768 BRCA2 T>C	13	32910768	32910768	T	C	BRCA2	c.2276T>C	NM_000059.4	NP_000050.3:p.(Leu759Pro)	NC_000013.10:g.32910768T>C	(Likely) benign	1 lab	ed4741fb65
X:49063004 CACNA1F G>A	X	49063004	49063004	G	A	CACNA1F	c.5473C>T	NM_005183.4	NP_005174.2:p.(Arg1825Cys)	NC_000023.10:g.49063004G>A	VUS	1 lab	ed4875c6fb
12:21349938 SLCO1B1 C>T	12	21349938	21349938	C	T	SLCO1B1	c.786C>T	NM_006446.5	NP_006437.3:p.(Phe262=)	NC_000012.11:g.21349938C>T	(Likely) benign	1 lab	ed49313258
20:57415487 GNAS A>ACGAGACCGAGAGCGAGACCGAGTC	20	57415487	57415514	A	ACGAGACCGAGAGCGAGACCGAGTC	GNAS	c.330_353dup	NM_016592.5	NP_057676.1:p.(Thr111_Glu118dup)	NC_000020.10:g.57415491_57415514dup	VUS	1 lab	ed4abcdff9
13:98964714 FARP1 Ref too long to show for this DEL>G	13	98964714	99006053	Ref too long to show for this DEL	G	FARP1	c.172-31301_276+9933del	NM_005766.4	NP_005757.1:p.?	NC_000013.10:g.98964715_99006053del	VUS	1 lab	ed50b3b23a
10:85957602 CDHR1 C>T	10	85957602	85957602	C	T	CDHR1	c.348+10C>T	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85957602C>T	(Likely) benign	1 lab	ed536123bc
15:63351848 TPM1 T>C	15	63351848	63351848	T	C	TPM1	c.461T>C	NM_001365776.1	NP_001352705.1:p.(Ile154Thr)	NC_000015.9:g.63351848T>C	(Likely) pathogenic	1 lab	ed5a99d0ee
X:153200771 RENBP C>CGGGGGA	X	153200771	153200782	C	CGGGGGA	RENBP	c.1246_1251dup	NM_002910.6	NP_002901.2:p.(Ser416_Pro417dup)	NC_000023.10:g.153200777_153200782dup	(Likely) benign	1 lab	ed5c766588
2:169340701 CERS6 T>Alt too long to show for this DUP	2	169340701	169376001	T	Alt too long to show for this DUP	CERS6	c.170+27575_171-28105dup	NM_203463.3	NP_982288.1:p.?	NC_000002.11:g.169340703_169376001dup	VUS	1 lab	ed622a1e49
X:119573169 LAMP2 G>A	X	119573169	119573169	G	A	LAMP2	c.1093+2416C>T	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119573169G>A	(Likely) benign	1 lab	ed6387f208
7:91709025 AKAP9 A>G	7	91709025	91709025	A	G	AKAP9	c.7578A>G	NM_005751.5	NP_005742.4:p.(Gln2526=)	NC_000007.13:g.91709025A>G	(Likely) benign	1 lab	ed64a779fc
2:44099267 ABCG8 T>C	2	44099267	44099267	T	C	ABCG8	c.1117T>C	NM_022437.3	NP_071882.1:p.(Cys373Arg)	NC_000002.11:g.44099267T>C	(Likely) benign	1 lab	ed65fac7e9
6:12121138 MISSING Ref too long to show for this DEL>C	6	12121138	14345315	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.12121141_14345315del	(Likely) pathogenic	1 lab	ed6688116b
X:70443720 GJB1 A>G	X	70443720	70443720	A	G	GJB1	c.163A>G	NM_000166.6	NP_000157.1:p.(Thr55Ala)	NC_000023.10:g.70443720A>G	(Likely) pathogenic	1 lab	ed673eda7d
10:16528528 PTER C>T	10	16528528	16528528	C	T	PTER	c.610C>T	NM_001001484.3	NP_001001484.1:p.(Arg204Trp)	NC_000010.10:g.16528528C>T	(Likely) benign	1 lab	ed69313372
15:58840579 LIPC A>G	15	58840579	58840579	A	G	LIPC	c.859A>G	NM_000236.3	NP_000227.2:p.(Ile287Val)	NC_000015.9:g.58840579A>G	VUS	1 lab	ed6b9a1eb1
16:1004665 LMF1 G>A	16	1004665	1004665	G	A	LMF1	c.195C>T	NM_022773.4	NP_073610.2:p.(Phe65=)	NC_000016.9:g.1004665G>A	(Likely) benign	1 lab	ed6bf61c04
18:8720380 MTCL1 G>A	18	8720380	8720380	G	A	MTCL1	c.243G>A	NM_015210.4	NP_056025.2:p.(Thr81=)	NC_000018.9:g.8720380G>A	(Likely) benign	1 lab	ed6c73dc9c
X:32583942 DMD G>C	X	32583942	32583942	G	C	DMD	c.1869C>G	NM_004006.3	NP_003997.2:p.(Leu623=)	NC_000023.10:g.32583942G>C	(Likely) benign	1 lab	ed6c9e2f53
2:96950305 SNRNP200 C>T	2	96950305	96950305	C	T	SNRNP200	c.4183G>A	NM_014014.5	NP_054733.2:p.(Glu1395Lys)	NC_000002.11:g.96950305C>T	VUS	1 lab	ed6cbc1519
2:179456719 TTN G>A	2	179456719	179456719	G	A	TTN	c.59912C>T	NM_001267550.2	NP_001254479.2:p.(Ala19971Val)	NC_000002.11:g.179456719G>A	VUS	1 lab	ed70062ce7
1:860279 SAMD11 C>T	1	860279	860279	C	T	SAMD11	c.468C>T	NM_001385640.1	NP_001372569.1:p.(Val156=)	NC_000001.10:g.860279C>T	(Likely) benign	1 lab	ed7099de23
11:121440989 SORL1 C>T	11	121440989	121440989	C	T	SORL1	c.3337+10C>T	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121440989C>T	(Likely) benign	1 lab	ed7113c38e
9:107562875 ABCA1 A>G	9	107562875	107562875	A	G	ABCA1	c.4699-10T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562875A>G	VUS	1 lab	ed75edcaa3
1:74836001 TNNI3K T>C	1	74836001	74836001	T	C	TNNI3K	c.1697T>C	NM_015978.3	NP_057062.1:p.(Ile566Thr)	NC_000001.10:g.74836001T>C	VUS	1 lab	ed76048df0
11:116702123 APOC3 T>C	11	116702123	116702123	T	C	APOC3	c.179+511T>C	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702123T>C	(Likely) benign	1 lab	ed77cfd17a
6:66063429 EYS A>AG	6	66063429	66063430	A	AG	EYS	c.1380dup	NM_001292009.2	NP_001278938.1:p.(Cys461LeufsTer12)	NC_000006.11:g.66063430dup	(Likely) pathogenic	1 lab	ed7a240bc9
19:11238516 LDLR G>A	19	11238516	11238516	G	A	LDLR	c.2312-168G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238516G>A	(Likely) benign	1 lab	ed7b1c46f4
13:45424362 MISSING Ref too long to show for this DEL>T	13	45424362	49670201	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.45424364_49670201del	(Likely) pathogenic	1 lab	ed7db760f3
2:44051196 ABCG5 G>A	2	44051196	44051196	G	A	ABCG5	c.1180C>T	NM_022436.3	NP_071881.1:p.(Leu394=)	NC_000002.11:g.44051196G>A	(Likely) benign	1 lab	ed8136a2ee
19:11230904 LDLR C>T	19	11230904	11230904	C	T	LDLR	c.1982C>T	NM_000527.5	NP_000518.1:p.(Pro661Leu)	NC_000019.9:g.11230904C>T	(Likely) pathogenic	1 lab	ed81b067f6
11:95583915 MTMR2 T>TGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA	11	95583915	95583916	T	TGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA	MTMR2	c.439-3_439-2insTTTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGC	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583915_95583916insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCAAA	(Likely) benign	1 lab	ed81fe7737
17:40093120 ODAD4 C>T	17	40093120	40093120	C	T	ODAD4	c.565C>T	NM_031421.5	NP_113609.1:p.(Gln189Ter)	NC_000017.10:g.40093120C>T	(Likely) pathogenic	1 lab	ed85cfeef0
12:125298892 SCARB1 T>A	12	125298892	125298892	T	A	SCARB1	c.486A>T	NM_005505.5	NP_005496.4:p.(Ala162=)	NC_000012.11:g.125298892T>A	(Likely) benign	1 lab	ed86eddb75
15:45427755 DUOX1 C>G	15	45427755	45427755	C	G	DUOX1	c.579C>G	NM_017434.5	NP_059130.2:p.(Ser193=)	NC_000015.9:g.45427755C>G	(Likely) benign	1 lab	ed87d57765
7:6043353 PMS2 C>T	7	6043353	6043353	C	T	PMS2	c.321G>A	NM_000535.7	NP_000526.2:p.(Arg107=)	NC_000007.13:g.6043353C>T	(Likely) benign	1 lab	ed88c232cd
3:195507363 MUC4 AGGGGTGGCCT>A	3	195507363	195507374	AGGGGTGGCCT	A	MUC4	c.11078_11087del	NM_018406.7	NP_060876.5:p.(Gln3693LeufsTer563)	NC_000003.11:g.195507365_195507374del	(Likely) benign	1 lab	ed8e0f0fe2
19:11240247 LDLR G>C	19	11240247	11240247	G	C	LDLR	c.2448G>C	NM_000527.5	NP_000518.1:p.(Lys816Asn)	NC_000019.9:g.11240247G>C	VUS	1 lab	ed9246436b
15:63335991 TPM1 G>A	15	63335991	63335991	G	A	TPM1	c.201G>A	NM_001018007.2	NP_001018007.1:p.(Ala67=)	NC_000015.9:g.63335991G>A	(Likely) benign	1 lab	ed92b00fc6
9:80020839 VPS13A G>A	9	80020839	80020839	G	A	VPS13A	c.9335G>A	NM_033305.3	NP_150648.2:p.(Ser3112Asn)	NC_000009.11:g.80020839G>A	(Likely) benign	1 lab	ed96ce0e52
16:56996976 CETP C>G	16	56996976	56996976	C	G	CETP	c.173C>G	NM_000078.3	NP_000069.2:p.(Pro58Arg)	NC_000016.9:g.56996976C>G	VUS	1 lab	ed9ecf084c
10:55569249 PCDH15 C>T	10	55569249	55569249	C	T	PCDH15	c.4576G>A	NM_001142769.3	NP_001136241.1:p.(Glu1526Lys)	NC_000010.10:g.55569249C>T	(Likely) benign	1 lab	eda061c5d6
2:21241936 APOB T>G	2	21241936	21241936	T	G	APOB	c.3049A>C	NM_000384.3	NP_000375.3:p.(Ser1017Arg)	NC_000002.11:g.21241936T>G	(Likely) benign	1 lab	eda3f88af4
12:50503219 GPD1 A>G	12	50503219	50503219	A	G	GPD1	c.967A>G	NM_005276.4	NP_005267.2:p.(Met323Val)	NC_000012.11:g.50503219A>G	VUS	1 lab	eda97dfb84
14:88412010 GALC AT>A	14	88412010	88412013	AT	A	GALC	c.1556del	NM_000153.4	NP_000144.2:p.(Asn519IlefsTer34)	NC_000014.8:g.88412013del	(Likely) pathogenic	1 lab	edaa48d48c
17:39925732 JUP C>T	17	39925732	39925732	C	T	JUP	c.406G>A	NM_001352773.2	NP_001339702.1:p.(Asp136Asn)	NC_000017.10:g.39925732C>T	VUS	1 lab	edad0cde4a
1:116268178 CASQ2 G>GAAAA	1	116268178	116268201	G	GAAAA	CASQ2	c.738-8_738-5dup	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268198_116268201dup	(Likely) benign	1 lab	edadc91d5e
2:48026838 MSH6 G>T	2	48026838	48026838	G	T	MSH6	c.1716G>T	NM_000179.3	NP_000170.1:p.(Gln572His)	NC_000002.11:g.48026838G>T	VUS	1 lab	edaf36d5bb
2:44100913 ABCG8 T>C	2	44100913	44100913	T	C	ABCG8	c.1212-13T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100913T>C	(Likely) benign	1 lab	edb0394095
2:85770005 MAT2A G>A	2	85770005	85770005	G	A	MAT2A	c.952-19G>A	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85770005G>A	(Likely) benign	1 lab	edb763f6ff
6:41311878 MISSING C>Alt too long to show for this DUP	6	41311878	41378076	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.41311879_41378076dup	VUS	1 lab	edb9375dd4
8:55533592 RP1 A>AC	8	55533592	55533597	A	AC	RP1	c.71dup	NM_006269.2	NP_006260.1:p.(Arg25SerfsTer37)	NC_000008.10:g.55533597dup	(Likely) pathogenic	1 lab	edb95ce755
6:112443378 LAMA4 T>G	6	112443378	112443378	T	G	LAMA4	c.4314A>C	NM_001105206.3	NP_001098676.2:p.(Ser1438=)	NC_000006.11:g.112443378T>G	(Likely) benign	1 lab	edbd679fbc
15:23002833 MISSING T>Alt too long to show for this DUP	15	23002833	23066837	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.23002834_23066837dup	VUS	1 lab	edbe07fb54
15:40498496 BUB1B C>T	15	40498496	40498496	C	T	BUB1B	c.1846C>T	NM_001211.6	NP_001202.5:p.(Arg616Cys)	NC_000015.9:g.40498496C>T	VUS	1 lab	edc1523255
2:24974975 NCOA1 T>C	2	24974975	24974975	T	C	NCOA1	c.3831T>C	NM_003743.5	NP_003734.3:p.(Tyr1277=)	NC_000002.11:g.24974975T>C	(Likely) benign	1 lab	edc2a07eb6
3:132415614 NPHP3 T>C	3	132415614	132415614	T	C	NPHP3	c.2132A>G	NM_153240.5	NP_694972.3:p.(Asn711Ser)	NC_000003.11:g.132415614T>C	(Likely) benign	1 lab	edc2a993f5
1:25893546 LDLRAP1 G>A	1	25893546	25893546	G	A	LDLRAP1	c.*63G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893546G>A	(Likely) benign	1 lab	edc40f5e40
1:156811960 NTRK1 C>T	1	156811960	156811960	C	T	NTRK1	c.97C>T	NM_001007792.1	NP_001007793.1:p.(Arg33Trp)	NC_000001.10:g.156811960C>T	VUS	1 lab	edc6eb0838
17:6338441 AIPL1 G>T	17	6338441	6338441	G	T	AIPL1	c.-17C>A	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6338441G>T	(Likely) benign	1 lab	ee75687c7a
7:116546394 CAPZA2 T>C	7	116546394	116546394	T	C	CAPZA2	c.504T>C	NM_006136.3	NP_006127.1:p.(Phe168=)	NC_000007.13:g.116546394T>C	(Likely) benign	1 lab	edc70af383
5:149323752 PDE6A G>A	5	149323752	149323752	G	A	PDE6A	c.474+11C>T	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149323752G>A	(Likely) benign	1 lab	edc846c8bc
X:114863650 PLS3 T>C	X	114863650	114863650	T	C	PLS3	c.367+11T>C	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114863650T>C	(Likely) benign	1 lab	edc947f94d
8:41790361 KAT6A G>A	8	41790361	41790361	G	A	KAT6A	c.5377C>T	NM_006766.5	NP_006757.2:p.(Gln1793Ter)	NC_000008.10:g.41790361G>A	(Likely) pathogenic	1 lab	edc94b9d2e
1:116936234 ATP1A1 C>T	1	116936234	116936234	C	T	ATP1A1	c.1549C>T	NM_001160233.2	NP_001153705.1:p.(Arg517Cys)	NC_000001.10:g.116936234C>T	VUS	1 lab	edc9e21de0
20:13071871 SPTLC3 C>A	20	13071871	13071871	C	A	SPTLC3	c.732+16C>A	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13071871C>A	(Likely) benign	1 lab	edca6f0bed
11:5248524 BGLT3 A>G	11	5248524	5248524	A	G	BGLT3				NC_000011.9:g.5248524A>G	VUS	1 lab	edcd00b973
12:125271991 SCARB1 C>T	12	125271991	125271991	C	T	SCARB1	c.1215G>A	NM_001367981.1	NP_001354910.1:p.(Lys405=)	NC_000012.11:g.125271991C>T	(Likely) benign	1 lab	edcf013fac
16:29517722 MISSING Ref too long to show for this DEL>T	16	29517722	30178408	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29517725_30178408del	(Likely) pathogenic	1 lab	edd1803821
16:46744636 MYLK3 C>T	16	46744636	46744636	C	T	MYLK3	c.2180G>A	NM_182493.3	NP_872299.2:p.(Cys727Tyr)	NC_000016.9:g.46744636C>T	VUS	1 lab	edd44d4996
2:179444089 TTN AG>A	2	179444089	179444091	AG	A	TTN	c.67667del	NM_001267550.2	NP_001254479.2:p.(Pro22556LeufsTer19)	NC_000002.11:g.179444091del	(Likely) pathogenic	1 lab	edd67b39f5
9:137620667 COL5A1 G>A	9	137620667	137620667	G	A	COL5A1	c.924+14G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620667G>A	(Likely) benign	1 lab	edd80c29b0
15:100739603 MISSING G>Alt too long to show for this DUP	15	100739603	101132947	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.100739605_101132947dup	VUS	1 lab	edd881c7a4
17:30235982 MISSING Ref too long to show for this DEL>A	17	30235982	30267014	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.30235983_30267014del	VUS	1 lab	edda5c5ce8
17:80044193 FASN T>G	17	80044193	80044193	T	G	FASN	c.3669A>C	NM_004104.5	NP_004095.4:p.(Ala1223=)	NC_000017.10:g.80044193T>G	(Likely) benign	1 lab	edda7d3aaa
3:40503520 RPL14 A>ACTGCTGCTGCTGCTGCTG	3	40503520	40503552	A	ACTGCTGCTGCTGCTGCTG	RPL14	c.460_477dup	NM_001034996.3	NP_001030168.1:p.(Ala154_Ala159dup)	NC_000003.11:g.40503535_40503552dup	(Likely) benign	1 lab	eddbac4d79
10:88485975 LDB3 G>A	10	88485975	88485975	G	A	LDB3	c.2075G>A	NM_001171610.2	NP_001165081.1:p.(Gly692Asp)	NC_000010.10:g.88485975G>A	VUS	1 lab	ede16b58a4
9:107581307 ABCA1 C>T	9	107581307	107581307	C	T	ABCA1	c.3242-143G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107581307C>T	(Likely) benign	1 lab	ede220ad38
10:61868635 ANK3 T>C	10	61868635	61868635	T	C	ANK3	c.3126A>G	NM_020987.5	NP_066267.2:p.(Leu1042=)	NC_000010.10:g.61868635T>C	(Likely) benign	1 lab	ede457c890
19:41903766 BCKDHA C>A	19	41903766	41903766	C	A	BCKDHA	c.34C>A	NM_000709.4	NP_000700.1:p.(Arg12=)	NC_000019.9:g.41903766C>A	(Likely) benign	1 lab	edecedc93d
19:12769059 MAN2B1 G>T	19	12769059	12769059	G	T	MAN2B1	c.1209C>A	NM_000528.4	NP_000519.2:p.(Arg403=)	NC_000019.9:g.12769059G>T	(Likely) benign	1 lab	edee2a63fd
16:56997039 CETP G>A	16	56997039	56997039	G	A	CETP	c.233+3G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997039G>A	VUS	1 lab	edf1341462
11:108153490 ATM G>A	11	108153490	108153490	G	A	ATM	c.3630G>A	NM_000051.4	NP_000042.3:p.(Met1210Ile)	NC_000011.9:g.108153490G>A	VUS	1 lab	edf15420bf
6:32010997 TNXB G>A	6	32010997	32010997	G	A	TNXB	c.11743C>T	NM_019105.8	NP_061978.6:p.(Arg3915Trp)	NC_000006.11:g.32010997G>A	VUS	1 lab	edf189b355
2:21237071 APOB C>T	2	21237071	21237071	C	T	APOB	c.3842+249G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237071C>T	(Likely) benign	1 lab	edf63d1ff4
17:45229253 CDC27 T>G	17	45229253	45229253	T	G	CDC27	c.1007A>C	NM_001114091.4	NP_001107563.1:p.(Lys336Thr)	NC_000017.10:g.45229253T>G	(Likely) benign	1 lab	edfd07cf0f
11:108218016 ATM A>T	11	108218016	108218016	A	T	ATM	c.8595A>T	NM_000051.4	NP_000042.3:p.(Ile2865=)	NC_000011.9:g.108218016A>T	(Likely) benign	1 lab	ee0392c6d2
5:171305021 FBXW11 G>A	5	171305021	171305021	G	A	FBXW11	c.869C>T	NM_001378976.1	NP_001365905.1:p.(Thr290Met)	NC_000005.9:g.171305021G>A	VUS	1 lab	ee0798e491
X:9709390 GPR143 T>C	X	9709390	9709390	T	C	GPR143	c.873A>G	NM_000273.3	NP_000264.2:p.(Thr291=)	NC_000023.10:g.9709390T>C	(Likely) benign	1 lab	ee07e50728
4:136803020 MISSING A>Alt too long to show for this DUP	4	136803020	136865413	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.136803021_136865413dup	VUS	1 lab	ee10c00b97
2:21231588 APOB T>C	2	21231588	21231588	T	C	APOB	c.8152A>G	NM_000384.3	NP_000375.3:p.(Ile2718Val)	NC_000002.11:g.21231588T>C	VUS	1 lab	ee12615e20
17:59878763 BRIP1 T>A	17	59878763	59878763	T	A	BRIP1	c.991A>T	NM_032043.3	NP_114432.2:p.(Met331Leu)	NC_000017.10:g.59878763T>A	VUS	1 lab	ee133b0b3a
18:11864536 GNAL T>C	18	11864536	11864536	T	C	GNAL	c.782T>C	NM_182978.4	NP_892023.1:p.(Leu261Pro)	NC_000018.9:g.11864536T>C	VUS	1 lab	ee15ad20b2
17:2232917 TSR1 G>A	17	2232917	2232917	G	A	TSR1	c.1771-148C>T	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2232917G>A	(Likely) benign	1 lab	ee1764dab8
2:98128128 ANKRD36B G>A	2	98128128	98128128	G	A	ANKRD36B	c.3193C>T	NM_025190.4	NP_079466.3:p.(Leu1065Phe)	NC_000002.11:g.98128128G>A	(Likely) benign	1 lab	ee17f23a87
19:47259635 FKRP G>C	19	47259635	47259635	G	C	FKRP	c.928G>C	NM_024301.5	NP_077277.1:p.(Glu310Gln)	NC_000019.9:g.47259635G>C	VUS	1 lab	ee1aff5118
16:11647422 LITAF G>T	16	11647422	11647422	G	T	LITAF	c.344C>A	NM_004862.4	NP_004853.2:p.(Thr115Asn)	NC_000016.9:g.11647422G>T	(Likely) pathogenic	1 lab	ee1e63074e
2:179449152 TTN GC>G	2	179449152	179449153	GC	G	TTN	c.65125del	NM_001267550.2	NP_001254479.2:p.(Ala21709ProfsTer17)	NC_000002.11:g.179449153del	(Likely) pathogenic	1 lab	ee1fdf188b
12:133215912 POLE G>A	12	133215912	133215912	G	A	POLE	c.5379-28C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133215912G>A	(Likely) benign	1 lab	ee25dc67f3
X:47058482 UBA1 C>T	X	47058482	47058482	C	T	UBA1	c.153C>T	NM_003334.4	NP_003325.2:p.(Asp51=)	NC_000023.10:g.47058482C>T	(Likely) benign	1 lab	ee27131f7b
17:1554589 PRPF8 G>A	17	1554589	1554589	G	A	PRPF8	c.6666C>T	NM_006445.4	NP_006436.3:p.(Ser2222=)	NC_000017.10:g.1554589G>A	(Likely) benign	1 lab	ee2ad5173d
8:55539018 RP1 T>G	8	55539018	55539018	T	G	RP1	c.2576T>G	NM_006269.2	NP_006260.1:p.(Val859Gly)	NC_000008.10:g.55539018T>G	VUS	1 lab	eeff9bdfc9
3:178922324 PIK3CA G>A	3	178922324	178922324	G	A	PIK3CA	c.1093G>A	NM_006218.4	NP_006209.2:p.(Glu365Lys)	NC_000003.11:g.178922324G>A	(Likely) pathogenic	1 lab	ee371da1c2
6:75901284 COL12A1 G>A	6	75901284	75901284	G	A	COL12A1	c.394+133C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75901284G>A	(Likely) benign	1 lab	ee3781edf2
1:3328124 PRDM16 G>A	1	3328124	3328124	G	A	PRDM16	c.1363G>A	NM_022114.4	NP_071397.3:p.(Gly455Ser)	NC_000001.10:g.3328124G>A	VUS	1 lab	ee3a349b6f
17:20095662 SPECC1 T>Alt too long to show for this DUP	17	20095662	20221835	T	Alt too long to show for this DUP	SPECC1	c.284-11983_*4457dup	NM_001243439.2	NP_001230368.1:p.?	NC_000017.10:g.20095663_20221835dup	VUS	1 lab	ee3f63f172
9:107607420 ABCA1 G>C	9	107607420	107607420	G	C	ABCA1	c.813+338C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107607420G>C	(Likely) benign	1 lab	ee47c15f8a
13:52656450 NEK5 T>TA	13	52656450	52656460	T	TA	NEK5	c.1573-3dup	NM_199289.3	NP_954983.1:p.?	NC_000013.10:g.52656460dup	(Likely) benign	1 lab	ee47dd22d4
16:87662122 JPH3 Ref too long to show for this DEL>T	16	87662122	87693844	Ref too long to show for this DEL	T	JPH3	c.383-15741_1160+15203del	NM_020655.4	NP_065706.2:p.?	NC_000016.9:g.87662123_87693844del	VUS	1 lab	ee49c7b6e8
6:79657331 PHIP ATTAT>A	6	79657331	79657335	ATTAT	A	PHIP	c.4206+5_4206+8del	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79657332_79657335del	(Likely) benign	1 lab	ee4b4c574d
4:100532617 MTTP C>T	4	100532617	100532617	C	T	MTTP	c.1989+7C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532617C>T	(Likely) benign	1 lab	ee4d31b58b
18:6845769 MISSING C>Alt too long to show for this DUP	18	6845769	7114932	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.6845770_7114932dup	VUS	1 lab	ee4d9792d2
2:189922168 COL5A2 C>A	2	189922168	189922168	C	A	COL5A2	c.2230-15G>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189922168C>A	(Likely) benign	1 lab	ee4e333b29
12:125348122 SCARB1 T>TG	12	125348122	125348126	T	TG	SCARB1	c.126+18dup	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125348126dup	(Likely) benign	1 lab	ee4e505dd3
6:75814927 COL12A1 G>A	6	75814927	75814927	G	A	COL12A1	c.8260C>T	NM_004370.6	NP_004361.3:p.(Pro2754Ser)	NC_000006.11:g.75814927G>A	VUS	1 lab	ee4e52aec2
4:650761 PDE6B CAA>C	4	650761	650763	CAA	C	PDE6B	c.1207_1208del	NM_000283.4	NP_000274.3:p.(Asn403GlnfsTer8)	NC_000004.11:g.650762_650763del	(Likely) pathogenic	1 lab	ee4e651e3f
12:50501431 GPD1 C>T	12	50501431	50501431	C	T	GPD1	c.694C>T	NM_005276.4	NP_005267.2:p.(Leu232Phe)	NC_000012.11:g.50501431C>T	VUS	1 lab	ee4f451b04
7:128041112 IMPDH1 G>A	7	128041112	128041112	G	A	IMPDH1	c.461C>T	NM_000883.4	NP_000874.2:p.(Pro154Leu)	NC_000007.13:g.128041112G>A	VUS	1 lab	ee555705f8
17:17118406 FLCN T>C	17	17118406	17118406	T	C	FLCN	c.1433-2A>G	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17118406T>C	(Likely) pathogenic	1 lab	ee5777f51b
11:17517205 USH1C C>T	11	17517205	17517205	C	T	USH1C	c.2566G>A	NM_153676.4	NP_710142.1:p.(Val856Ile)	NC_000011.9:g.17517205C>T	(Likely) benign	1 lab	ee5856e828
19:13201122 NFIX C>T	19	13201122	13201122	C	T	NFIX	c.1141C>T	NM_001365982.2	NP_001352911.1:p.(Arg381Ter)	NC_000019.9:g.13201122C>T	VUS	1 lab	ee588d1d5a
6:123869769 TRDN TAAAA>T	6	123869769	123869784	TAAAA	T	TRDN	c.233-16_233-13del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123869781_123869784del	(Likely) benign	1 lab	ee58bae9f5
5:95768588 PCSK1 C>T	5	95768588	95768588	C	T	PCSK1	c.159G>A	NM_000439.5	NP_000430.3:p.(Leu53=)	NC_000005.9:g.95768588C>T	(Likely) benign	1 lab	ee5a9f7d7f
8:100147934 VPS13B A>G	8	100147934	100147934	A	G	VPS13B	c.1536A>G	NM_017890.5	NP_060360.3:p.(Glu512=)	NC_000008.10:g.100147934A>G	(Likely) benign	1 lab	ee5c9c1f10
15:72057481 THSD4 G>A	15	72057481	72057481	G	A	THSD4	c.2712G>A	NM_024817.2	NP_079093.2:p.(Gln904=)	NC_000015.9:g.72057481G>A	(Likely) benign	1 lab	ee5d35fb80
18:65151555 MISSING T>Alt too long to show for this DUP	18	65151555	65180095	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.65151556_65180095dup	VUS	1 lab	ee5ec470d9
16:16315528 ABCC6 G>GA	16	16315528	16315529	G	GA	ABCC6	c.196dup	NM_001171.6	NP_001162.5:p.(Ser66PhefsTer35)	NC_000016.9:g.16315529dup	(Likely) pathogenic	1 lab	ee60142468
5:71618274 MISSING G>Alt too long to show for this DUP	5	71618274	71690824	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.71618275_71690824dup	VUS	1 lab	ee6081acb5
11:47364745 MYBPC3 C>T	11	47364745	47364745	C	T	MYBPC3	c.1227-49G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364745C>T	(Likely) benign	1 lab	ee60838905
16:1412662 GNPTG G>A	16	1412662	1412662	G	A	GNPTG	c.660G>A	NM_032520.5	NP_115909.1:p.(Lys220=)	NC_000016.9:g.1412662G>A	(Likely) benign	1 lab	ee645fbe4f
2:220502367 SLC4A3 A>C	2	220502367	220502367	A	C	SLC4A3	c.2681A>C	NM_001326559.2	NP_001313488.2:p.(Asp894Ala)	NC_000002.11:g.220502367A>C	(Likely) benign	1 lab	ee667ba3b7
12:40882556 MUC19 A>G	12	40882556	40882556	A	G	MUC19	c.15804A>G	NM_173600.2	NP_775871.2:p.(Gly5268=)	NC_000012.11:g.40882556A>G	(Likely) benign	1 lab	ee69fa6265
16:16286796 ABCC6 C>A	16	16286796	16286796	C	A	ABCC6	c.997-17G>T	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16286796C>A	(Likely) benign	1 lab	ee6ac4d0c0
13:20600778 ZMYM2 TG>T	13	20600778	20600780	TG	T	ZMYM2	c.1613del	NM_001353162.3	NP_001340091.1:p.(Gly538ValfsTer11)	NC_000013.10:g.20600780del	(Likely) pathogenic	1 lab	ee6c58346f
12:32974338 PKP2 T>C	12	32974338	32974338	T	C	PKP2	c.2097A>G	NM_004572.4	NP_004563.2:p.(Gln699=)	NC_000012.11:g.32974338T>C	(Likely) benign	1 lab	ee72552993
14:76446939 TGFB3 AT>A	14	76446939	76446941	AT	A	TGFB3	c.297del	NM_003239.5	NP_003230.1:p.(Glu99AspfsTer12)	NC_000014.8:g.76446941del	(Likely) pathogenic	1 lab	ee72a6bc1a
10:100025 MISSING Ref too long to show for this DEL>A	10	100025	1125755	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.100026_1125755del	(Likely) pathogenic	1 lab	ee72eb3f77
X:487193 MISSING Ref too long to show for this DEL>G	X	487193	738458	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.487194_738458del	(Likely) pathogenic	1 lab	ee7a09cecb
8:62550936 ASPH A>C	8	62550936	62550936	A	C	ASPH	c.791-14T>G	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62550936A>C	(Likely) benign	1 lab	ee7b96ed76
2:179391888 TTN C>T	2	179391888	179391888	C	T	TTN	c.100123G>A	NM_133378.4	NP_596869.4:p.(Gly33375Arg)	NC_000002.11:g.179391888C>T	VUS	1 lab	ee7bf12d08
21:47551975 COL6A2 G>GAGCAGGTGGCGC	21	47551975	47551987	G	GAGCAGGTGGCGC	COL6A2	c.2570_2581dup	NM_001849.4	NP_001840.3:p.(Ala860_Arg861insGlnGlnValAla)	NC_000021.8:g.47551976_47551987dup	VUS	1 lab	ee7cabd1eb
1:243736210 AKT3 C>CT	1	243736210	243736225	C	CT	AKT3	c.819+17dup	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243736225dup	(Likely) benign	1 lab	ee7de25a49
17:10532921 MYH3 G>A	17	10532921	10532921	G	A	MYH3	c.5789C>T	NM_002470.4	NP_002461.2:p.(Ser1930Phe)	NC_000017.10:g.10532921G>A	VUS	1 lab	ee7df889c7
15:67473658 SMAD3 G>A	15	67473658	67473658	G	A	SMAD3	c.738G>A	NM_005902.4	NP_005893.1:p.(Glu246=)	NC_000015.9:g.67473658G>A	(Likely) benign	1 lab	ee7ef2ab20
1:11907328 NPPA C>T	1	11907328	11907328	C	T	NPPA	c.292G>A	NM_006172.4	NP_006163.1:p.(Gly98Arg)	NC_000001.10:g.11907328C>T	(Likely) benign	1 lab	ee7f06aca4
11:116707731 APOA1 C>T	11	116707731	116707731	C	T	APOA1	c.186G>A	NM_001318017.2	NP_001304946.1:p.(Leu62=)	NC_000011.9:g.116707731C>T	(Likely) benign	1 lab	ee8244e141
14:80669639 DIO2 T>TA	14	80669639	80669654	T	TA	DIO2	c.223-9dup	NM_000793.6	NP_000784.3:p.?	NC_000014.8:g.80669654dup	(Likely) benign	1 lab	ee8592f7df
12:1909612 CACNA2D4 GGAGA>G	12	1909612	1909619	GGAGA	G	CACNA2D4	c.2869-12_2869-9del	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1909616_1909619del	VUS	1 lab	ee85e4d2f7
6:100838841 SIM1 G>A	6	100838841	100838841	G	A	SIM1	c.1697C>T	NM_005068.3	NP_005059.2:p.(Thr566Ile)	NC_000006.11:g.100838841G>A	VUS	1 lab	ee8610ecfc
19:11227689 LDLR C>T	19	11227689	11227689	C	T	LDLR	c.1845+15C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227689C>T	(Likely) benign	1 lab	ee87899b9f
5:180046725 FLT4 A>G	5	180046725	180046725	A	G	FLT4	c.2587T>C	NM_182925.5	NP_891555.2:p.(Ser863Pro)	NC_000005.9:g.180046725A>G	(Likely) pathogenic	1 lab	ee884a60ea
7:107314593 SLC26A4 G>T	7	107314593	107314593	G	T	SLC26A4	c.416-16G>T	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107314593G>T	(Likely) benign	1 lab	ee8965c6b3
17:48277229 COL1A1 G>A	17	48277229	48277229	G	A	COL1A1	c.183C>T	NM_000088.4	NP_000079.2:p.(Cys61=)	NC_000017.10:g.48277229G>A	(Likely) benign	1 lab	ee8e362826
3:63981805 ATXN7 C>T	3	63981805	63981805	C	T	ATXN7	c.2307C>T	NM_000333.4	NP_000324.1:p.(Asn769=)	NC_000003.11:g.63981805C>T	(Likely) benign	1 lab	ee91881c47
X:69447062 MISSING T>Alt too long to show for this DUP	X	69447062	69487027	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69447063_69487027dup	VUS	1 lab	ee91c21e9a
5:127595210 FBN2 A>T	5	127595210	127595210	A	T	FBN2	c.8676T>A	NM_001999.4	NP_001990.2:p.(Asp2892Glu)	NC_000005.9:g.127595210A>T	VUS	1 lab	ee96606512
1:55505708 PCSK9 C>A	1	55505708	55505708	C	A	PCSK9	c.198C>A	NM_174936.4	NP_777596.2:p.(Arg66=)	NC_000001.10:g.55505708C>A	(Likely) benign	1 lab	ee96cdb022
16:3433089 ZSCAN32 C>T	16	3433089	3433089	C	T	ZSCAN32	c.1857G>A	NM_001284527.2	NP_001271456.1:p.(Gln619=)	NC_000016.9:g.3433089C>T	(Likely) benign	1 lab	ee9b9c9679
15:48830205 FBN1 A>G	15	48830205	48830205	A	G	FBN1	c.539-200T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48830205A>G	(Likely) benign	1 lab	ee9bd18e87
X:70444080 GJB1 A>G	X	70444080	70444080	A	G	GJB1	c.523A>G	NM_000166.6	NP_000157.1:p.(Asn175Asp)	NC_000023.10:g.70444080A>G	(Likely) pathogenic	1 lab	ee9ca34675
12:23699311 SOX5 C>G	12	23699311	23699311	C	G	SOX5	c.1497G>C	NM_152989.5	NP_694534.1:p.(Gln499His)	NC_000012.11:g.23699311C>G	VUS	1 lab	ee9e1f01d6
9:107580995 ABCA1 G>A	9	107580995	107580995	G	A	ABCA1	c.3411C>T	NM_005502.4	NP_005493.2:p.(Ser1137=)	NC_000009.11:g.107580995G>A	(Likely) benign	1 lab	ee9f0debab
11:116707338 APOA1 A>G	11	116707338	116707338	A	G	APOA1	c.-127-211T>C	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707338A>G	(Likely) benign	1 lab	ee9fccb713
3:38783827 SCN10A A>G	3	38783827	38783827	A	G	SCN10A	c.2061T>C	NM_006514.4	NP_006505.4:p.(His687=)	NC_000003.11:g.38783827A>G	(Likely) benign	1 lab	eeae31e052
1:871159 SAMD11 G>A	1	871159	871159	G	A	SAMD11	c.313G>A	NM_152486.4	NP_689699.3:p.(Gly105Ser)	NC_000001.10:g.871159G>A	(Likely) benign	1 lab	eeae3ef781
2:179424755 TTN T>G	2	179424755	179424755	T	G	TTN	c.86104A>C	NM_001267550.2	NP_001254479.2:p.(Ile28702Leu)	NC_000002.11:g.179424755T>G	VUS	1 lab	eeb080cad2
2:21263810 APOB C>T	2	21263810	21263810	C	T	APOB	c.383G>A	NM_000384.3	NP_000375.3:p.(Arg128Lys)	NC_000002.11:g.21263810C>T	VUS	1 lab	eeb3cd2709
19:11218559 LDLR A>G	19	11218559	11218559	A	G	LDLR	c.940+369A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218559A>G	VUS	1 lab	eeb5874274
12:32977012 PKP2 T>C	12	32977012	32977012	T	C	PKP2	c.1773A>G	NM_004572.4	NP_004563.2:p.(Arg591=)	NC_000012.11:g.32977012T>C	(Likely) benign	1 lab	eeba6bb42e
22:41564527 EP300 G>T	22	41564527	41564527	G	T	EP300	c.3949G>T	NM_001429.4	NP_001420.2:p.(Glu1317Ter)	NC_000022.10:g.41564527G>T	(Likely) pathogenic	1 lab	eebf12a116
19:11218209 LDLR G>A	19	11218209	11218209	G	A	LDLR	c.940+19G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218209G>A	(Likely) benign	1 lab	eebfc1114a
X:70443956 GJB1 G>T	X	70443956	70443956	G	T	GJB1	c.399G>T	NM_000166.6	NP_000157.1:p.(Trp133Cys)	NC_000023.10:g.70443956G>T	(Likely) pathogenic	1 lab	eec2a23e73
7:98545961 TRRAP G>A	7	98545961	98545961	G	A	TRRAP	c.4645G>A	NM_001244580.2	NP_001231509.1:p.(Glu1549Lys)	NC_000007.13:g.98545961G>A	VUS	1 lab	eec8bb17c1
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	eec9149301
19:50331796 MED25 C>T	19	50331796	50331796	C	T	MED25	c.396C>T	NM_030973.4	NP_112235.2:p.(Arg132=)	NC_000019.9:g.50331796C>T	(Likely) benign	1 lab	eec98ebb09
15:73614982 HCN4 G>C	15	73614982	73614982	G	C	HCN4	c.3452C>G	NM_005477.3	NP_005468.1:p.(Thr1151Ser)	NC_000015.9:g.73614982G>C	VUS	1 lab	eecd1ca860
2:179585181 TTN C>T	2	179585181	179585181	C	T	TTN	c.23308G>A	NM_001267550.2	NP_001254479.2:p.(Gly7770Arg)	NC_000002.11:g.179585181C>T	VUS	1 lab	eed1c88ddc
15:48779562 FBN1 C>T	15	48779562	48779562	C	T	FBN1	c.3410G>A	NM_000138.5	NP_000129.3:p.(Arg1137His)	NC_000015.9:g.48779562C>T	VUS	1 lab	eed1f07151
14:64637147 SYNE2 C>A	14	64637147	64637147	C	A	SYNE2	c.17202C>A	NM_182914.3	NP_878918.2:p.(Leu5734=)	NC_000014.8:g.64637147C>A	(Likely) benign	1 lab	eed212d541
8:41836254 KAT6A G>A	8	41836254	41836254	G	A	KAT6A	c.949C>T	NM_006766.5	NP_006757.2:p.(Arg317Ter)	NC_000008.10:g.41836254G>A	(Likely) pathogenic	1 lab	eed33465dd
14:73637755 PSEN1 TG>T	14	73637755	73637756	TG	T	PSEN1	c.338+1del	NM_000021.4	NP_000012.1:p.?	NC_000014.8:g.73637756del	(Likely) pathogenic	1 lab	eed354623f
2:44102465 ABCG8 C>G	2	44102465	44102465	C	G	ABCG8	c.1669C>G	NM_022437.3	NP_071882.1:p.(His557Asp)	NC_000002.11:g.44102465C>G	VUS	1 lab	eed4943031
14:76452202 IFT43 G>C	14	76452202	76452202	G	C	IFT43	c.54+19G>C	NM_001255995.3	NP_001242924.1:p.?	NC_000014.8:g.76452202G>C	(Likely) benign	1 lab	eed6767237
7:81634822 CACNA2D1 GAA>G	7	81634822	81634836	GAA	G	CACNA2D1	c.1516-11_1516-10del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81634835_81634836del	(Likely) benign	1 lab	eed74319a2
6:32038166 TNXB C>G	6	32038166	32038166	C	G	TNXB	c.5016G>C	NM_019105.8	NP_061978.6:p.(Gly1672=)	NC_000006.11:g.32038166C>G	(Likely) benign	1 lab	eed7c5461b
18:28654656 DSC2 T>C	18	28654656	28654656	T	C	DSC2	c.1881A>G	NM_004949.5	NP_004940.1:p.(Ala627=)	NC_000018.9:g.28654656T>C	(Likely) benign	1 lab	eed910a8e4
19:16593378 CALR3 T>G	19	16593378	16593378	T	G	CALR3	c.801A>C	NM_145046.5	NP_659483.2:p.(Pro267=)	NC_000019.9:g.16593378T>G	(Likely) benign	1 lab	eedb365ecd
2:44051117 ABCG5 A>G	2	44051117	44051117	A	G	ABCG5	c.1259T>C	NM_022436.3	NP_071881.1:p.(Val420Ala)	NC_000002.11:g.44051117A>G	VUS	1 lab	eedb47510e
10:27687877 PTCHD3 G>A	10	27687877	27687877	G	A	PTCHD3	c.1650C>T	NM_001034842.4	NP_001030014.2:p.(Cys550=)	NC_000010.10:g.27687877G>A	(Likely) benign	1 lab	eeddef9be4
11:116662449 APOA5 C>G	11	116662449	116662449	C	G	APOA5	c.50-36G>C	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662449C>G	(Likely) benign	1 lab	eee4843d55
2:21230284 APOB T>C	2	21230284	21230284	T	C	APOB	c.9456A>G	NM_000384.3	NP_000375.3:p.(Leu3152=)	NC_000002.11:g.21230284T>C	(Likely) benign	1 lab	eee6201480
2:179602876 TTN G>A	2	179602876	179602876	G	A	TTN	c.14304C>T	NM_001267550.2	NP_001254479.2:p.(Gly4768=)	NC_000002.11:g.179602876G>A	VUS	1 lab	eee703d503
19:16593495 CALR3 C>T	19	16593495	16593495	C	T	CALR3	c.780G>A	NM_145046.5	NP_659483.2:p.(Pro260=)	NC_000019.9:g.16593495C>T	(Likely) benign	1 lab	eeead37474
11:64545511 SF1 T>C	11	64545511	64545511	T	C	SF1	c.354A>G	NM_001178030.2	NP_001171501.1:p.(Pro118=)	NC_000011.9:g.64545511T>C	(Likely) benign	1 lab	eef26160c7
5:37148363 CPLANE1 G>A	5	37148363	37148363	G	A	CPLANE1	c.8219C>T	NM_023073.4	NP_075561.3:p.(Pro2740Leu)	NC_000005.9:g.37148363G>A	(Likely) benign	1 lab	eef3082459
1:3328359 PRDM16 C>T	1	3328359	3328359	C	T	PRDM16	c.1598C>T	NM_022114.4	NP_071397.3:p.(Ser533Leu)	NC_000001.10:g.3328359C>T	VUS	1 lab	eef4709097
1:196658574 CFH T>G	1	196658574	196658574	T	G	CFH	c.989T>G	NM_000186.4	NP_000177.2:p.(Ile330Ser)	NC_000001.10:g.196658574T>G	VUS	1 lab	eef71f7ce3
6:135768245 AHI1 T>C	6	135768245	135768245	T	C	AHI1	c.1680A>G	NM_001134831.2	NP_001128303.1:p.(Pro560=)	NC_000006.11:g.135768245T>C	(Likely) benign	1 lab	eefb5fcbd9
9:21802984 MTAP AAC>A	9	21802984	21803036	AAC	A	MTAP	c.33+255_33+256del	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21803035_21803036del	(Likely) benign	1 lab	eefe98051e
12:46244135 ARID2 T>G	12	46244135	46244135	T	G	ARID2	c.2229T>G	NM_152641.4	NP_689854.2:p.(Val743=)	NC_000012.11:g.46244135T>G	(Likely) benign	1 lab	eeff39a97b
16:57003545 CETP G>A	16	57003545	57003545	G	A	CETP	c.391G>A	NM_000078.3	NP_000069.2:p.(Asp131Asn)	NC_000016.9:g.57003545G>A	VUS	1 lab	ef009b4520
X:18660219 CDKL5 TG>T	X	18660219	18660225	TG	T	CDKL5	c.2714-3902del	NM_003159.3	NP_003150.1:p.?	NC_000023.10:g.18660225del	(Likely) benign	1 lab	ef01589bdf
16:3647839 SLX4 C>G	16	3647839	3647839	C	G	SLX4	c.1325G>C	NM_032444.4	NP_115820.2:p.(Arg442Thr)	NC_000016.9:g.3647839C>G	(Likely) benign	1 lab	ef02d145b3
15:73615604 HCN4 C>T	15	73615604	73615604	C	T	HCN4	c.2830G>A	NM_005477.3	NP_005468.1:p.(Ala944Thr)	NC_000015.9:g.73615604C>T	VUS	1 lab	ef045a9d07
3:125690582 MISSING A>Alt too long to show for this DUP	3	125690582	126047897	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.125690585_126047897dup	VUS	1 lab	ef0591117e
16:68847421 CDH1 T>C	16	68847421	68847421	T	C	CDH1	c.1320+23T>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68847421T>C	(Likely) benign	1 lab	ef090ad5a5
9:107574961 ABCA1 C>T	9	107574961	107574961	C	T	ABCA1	c.3944G>A	NM_005502.4	NP_005493.2:p.(Gly1315Glu)	NC_000009.11:g.107574961C>T	(Likely) benign	1 lab	ef0a4dcf74
20:33591006 TRPC4AP G>A	20	33591006	33591006	G	A	TRPC4AP	c.2337C>T	NM_015638.3	NP_056453.1:p.(Leu779=)	NC_000020.10:g.33591006G>A	(Likely) benign	1 lab	ef0a612cc5
14:23855826 MYH6 G>A	14	23855826	23855826	G	A	MYH6	c.4657C>T	NM_002471.4	NP_002462.2:p.(Leu1553=)	NC_000014.8:g.23855826G>A	(Likely) benign	1 lab	ef0b3235e3
3:109069684 MISSING Ref too long to show for this DEL>T	3	109069684	109485501	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.109069686_109485501del	VUS	1 lab	ef0c04e111
6:49416648 MMUT G>A	6	49416648	49416648	G	A	MMUT	c.1333-8C>T	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49416648G>A	(Likely) benign	1 lab	ef0d9d851c
12:122248083 SETD1B C>T	12	122248083	122248083	C	T	SETD1B	c.1232C>T	NM_001353345.2	NP_001340274.1:p.(Pro411Leu)	NC_000012.11:g.122248083C>T	(Likely) benign	1 lab	ef1210f658
1:145354760 MISSING Ref too long to show for this DEL>C	1	145354760	145747269	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.145354761_145747269del	(Likely) pathogenic	1 lab	ef1767d105
X:70443816 GJB1 C>T	X	70443816	70443816	C	T	GJB1	c.259C>T	NM_000166.6	NP_000157.1:p.(Pro87Ser)	NC_000023.10:g.70443816C>T	(Likely) pathogenic	1 lab	ef18cd11b5
1:94509799 ABCA4 G>A	1	94509799	94509799	G	A	ABCA4	c.3050+370C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94509799G>A	(Likely) pathogenic	1 lab	ef1981cc78
2:21230775 APOB G>GAATTTC	2	21230775	21230783	G	GAATTTC	APOB	c.8959_8964dup	NM_000384.3	NP_000375.3:p.(Glu2987_Ile2988dup)	NC_000002.11:g.21230778_21230783dup	VUS	1 lab	ef19e3db2d
9:101905067 TGFBR1 C>A	9	101905067	101905067	C	A	TGFBR1	c.973+82C>A	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101905067C>A	(Likely) benign	1 lab	ef2145c3ed
12:125299667 SCARB1 G>A	12	125299667	125299667	G	A	SCARB1	c.285-7C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299667G>A	(Likely) benign	1 lab	ef228f608b
8:68018227 CSPP1 C>T	8	68018227	68018227	C	T	CSPP1	c.238+17C>T	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68018227C>T	(Likely) benign	1 lab	ef23ed7e2a
4:186536215 SORBS2 G>A	4	186536215	186536215	G	A	SORBS2	c.3038C>T	NM_001270771.2	NP_001257700.1:p.(Pro1013Leu)	NC_000004.11:g.186536215G>A	VUS	1 lab	ef25325b2b
16:15841907 MYH11 T>C	16	15841907	15841907	T	C	MYH11	c.2177A>G	NM_002474.3	NP_002465.1:p.(Gln726Arg)	NC_000016.9:g.15841907T>C	VUS	1 lab	ef26d5ccc7
19:11210946 LDLR T>C	19	11210946	11210946	T	C	LDLR	c.115T>C	NM_000527.5	NP_000518.1:p.(Cys39Arg)	NC_000019.9:g.11210946T>C	(Likely) pathogenic	1 lab	ef273e2423
7:150642554 KCNH2 G>A	7	150642554	150642554	G	A	KCNH2	c.3379C>T	NM_000238.4	NP_000229.1:p.(Leu1127Phe)	NC_000007.13:g.150642554G>A	VUS	1 lab	ef2b031933
19:11217351 LDLR G>C	19	11217351	11217351	G	C	LDLR	c.805G>C	NM_000527.5	NP_000518.1:p.(Gly269Arg)	NC_000019.9:g.11217351G>C	(Likely) pathogenic	1 lab	ef2b1ee455
2:105977841 FHL2 C>T	2	105977841	105977841	C	T	FHL2	c.739G>A	NM_001318895.3	NP_001305824.1:p.(Asp247Asn)	NC_000002.11:g.105977841C>T	VUS	1 lab	ef2cdd40d5
1:12062148 MFN2 C>T	1	12062148	12062148	C	T	MFN2	c.1148C>T	NM_014874.4	NP_055689.1:p.(Ala383Val)	NC_000001.10:g.12062148C>T	(Likely) pathogenic	1 lab	ef2cf9673e
19:45411917 APOE C>T	19	45411917	45411917	C	T	APOE	c.442C>T	NM_001302688.2	NP_001289617.1:p.(Leu148=)	NC_000019.9:g.45411917C>T	(Likely) benign	1 lab	ef2e58fafd
X:47065629 UBA1 G>A	X	47065629	47065629	G	A	UBA1	c.1742-18G>A	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47065629G>A	(Likely) benign	1 lab	ef2f990554
15:83836504 MISSING C>Alt too long to show for this DUP	15	83836504	83884780	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.83836507_83884780dup	VUS	1 lab	ef32c423a1
21:47536591 COL6A2 G>A	21	47536591	47536591	G	A	COL6A2	c.954G>A	NM_058175.3	NP_478055.2:p.(Lys318=)	NC_000021.8:g.47536591G>A	VUS	1 lab	ef32e20da5
19:11238745 LDLR C>T	19	11238745	11238745	C	T	LDLR	c.2373C>T	NM_000527.5	NP_000518.1:p.(Ser791=)	NC_000019.9:g.11238745C>T	(Likely) benign	1 lab	ef34f3c556
2:25469604 DNMT3A G>A	2	25469604	25469604	G	A	DNMT3A	c.1164C>T	NM_175629.2	NP_783328.1:p.(His388=)	NC_000002.11:g.25469604G>A	(Likely) benign	1 lab	ef38058b2a
12:32974091 PKP2 A>ACTGACTTGACTTGTCAGTCAAGCAGC	12	32974091	32974129	A	ACTGACTTGACTTGTCAGTCAAGCAGC	PKP2	c.2145+173_2145+198dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32974104_32974129dup	(Likely) benign	1 lab	ef38f828b2
2:179598498 TTN C>T	2	179598498	179598498	C	T	TTN	c.15618G>A	NM_001267550.2	NP_001254479.2:p.(Glu5206=)	NC_000002.11:g.179598498C>T	(Likely) benign	1 lab	ef39a5977a
10:124914529 BUB3 C>A	10	124914529	124914529	C	A	BUB3	c.96C>A	NM_004725.4	NP_004716.1:p.(Val32=)	NC_000010.10:g.124914529C>A	(Likely) benign	1 lab	ef3ac3f3c5
1:63064445 ANGPTL3 C>T	1	63064445	63064445	C	T	ANGPTL3	c.574C>T	NM_014495.4	NP_055310.1:p.(Gln192Ter)	NC_000001.10:g.63064445C>T	(Likely) pathogenic	1 lab	ef3dbede35
13:32913947 BRCA2 C>T	13	32913947	32913947	C	T	BRCA2	c.5455C>T	NM_000059.4	NP_000050.3:p.(Pro1819Ser)	NC_000013.10:g.32913947C>T	(Likely) benign	1 lab	ef40a9f8a6
11:27679832 BDNF C>T	11	27679832	27679832	C	T	BDNF	c.280G>A	NM_170735.6	NP_733931.1:p.(Val94Met)	NC_000011.9:g.27679832C>T	VUS	1 lab	ef41a4a910
1:116936194 ATP1A1 C>T	1	116936194	116936194	C	T	ATP1A1	c.1509C>T	NM_001160233.2	NP_001153705.1:p.(His503=)	NC_000001.10:g.116936194C>T	(Likely) benign	1 lab	ef4278d0f0
7:128483506 FLNC G>A	7	128483506	128483506	G	A	FLNC	c.2686G>A	NM_001458.5	NP_001449.3:p.(Gly896Arg)	NC_000007.13:g.128483506G>A	(Likely) benign	1 lab	ef43f15a09
7:91712599 AKAP9 A>G	7	91712599	91712599	A	G	AKAP9	c.8276A>G	NM_005751.5	NP_005742.4:p.(Gln2759Arg)	NC_000007.13:g.91712599A>G	VUS	1 lab	ef452f366b
X:149826517 MTM1 A>G	X	149826517	149826517	A	G	MTM1	c.1260+17A>G	NM_000252.3	NP_000243.1:p.?	NC_000023.10:g.149826517A>G	(Likely) benign	1 lab	ef45d094c4
9:107583513 ABCA1 A>G	9	107583513	107583513	A	G	ABCA1	c.2960+143T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107583513A>G	(Likely) benign	1 lab	ef4646bb63
3:136341992 STAG1 G>C	3	136341992	136341992	G	C	STAG1	c.128C>G	NM_005862.3	NP_005853.2:p.(Pro43Arg)	NC_000003.11:g.136341992G>C	VUS	1 lab	ef46a135ea
5:177031169 B4GALT7 G>A	5	177031169	177031169	G	A	B4GALT7	c.51-11G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177031169G>A	(Likely) benign	1 lab	ef4729eb29
7:94039716 COL1A2 T>C	7	94039716	94039716	T	C	COL1A2	c.1090-16T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94039716T>C	(Likely) benign	1 lab	ef499d7f24
18:47101836 LIPG G>A	18	47101836	47101836	G	A	LIPG	c.669G>A	NM_006033.4	NP_006024.1:p.(Thr223=)	NC_000018.9:g.47101836G>A	(Likely) benign	1 lab	ef4b41ef5a
11:71942662 INPPL1 A>G	11	71942662	71942662	A	G	INPPL1	c.1615+3A>G	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71942662A>G	(Likely) benign	1 lab	ef4d6d9f9a
3:38648284 SCN5A T>C	3	38648284	38648284	T	C	SCN5A	c.1016A>G	NM_198056.3	NP_932173.1:p.(Tyr339Cys)	NC_000003.11:g.38648284T>C	(Likely) pathogenic	1 lab	ef4eea9f7c
2:29451799 ALK T>C	2	29451799	29451799	T	C	ALK	c.2766A>G	NM_004304.5	NP_004295.2:p.(Gly922=)	NC_000002.11:g.29451799T>C	(Likely) benign	1 lab	ef4efcc2e5
1:78401675 NEXN A>G	1	78401675	78401675	A	G	NEXN	c.1419A>G	NM_144573.4	NP_653174.3:p.(Arg473=)	NC_000001.10:g.78401675A>G	(Likely) benign	1 lab	ef5089d029
X:57618845 ZXDB G>A	X	57618845	57618845	G	A	ZXDB	c.364G>A	NM_007157.4	NP_009088.1:p.(Glu122Lys)	NC_000023.10:g.57618845G>A	(Likely) benign	1 lab	ef531f5304
2:179571456 TTN C>T	2	179571456	179571456	C	T	TTN	c.29145G>A	NM_001267550.2	NP_001254479.2:p.(Ala9715=)	NC_000002.11:g.179571456C>T	(Likely) benign	1 lab	ef59540ff2
6:75890933 COL12A1 TA>T	6	75890933	75890946	TA	T	COL12A1	c.1892-7del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890946del	(Likely) benign	1 lab	ef6bddaa78
19:39077214 RYR1 C>T	19	39077214	39077214	C	T	RYR1	c.15019C>T	NM_000540.3	NP_000531.2:p.(Gln5007Ter)	NC_000019.9:g.39077214C>T	(Likely) pathogenic	1 lab	ef5a25c960
5:89940686 ADGRV1 G>C	5	89940686	89940686	G	C	ADGRV1	c.2898G>C	NM_032119.4	NP_115495.3:p.(Glu966Asp)	NC_000005.9:g.89940686G>C	(Likely) pathogenic	1 lab	ef5ba0d2bf
22:19750798 TBX1 G>A	22	19750798	19750798	G	A	TBX1	c.445G>A	NM_080647.1	NP_542378.1:p.(Gly149Ser)	NC_000022.10:g.19750798G>A	VUS	1 lab	ef5c73caea
7:81593577 CACNA2D1 T>C	7	81593577	81593577	T	C	CACNA2D1	c.2673A>G	NM_000722.4	NP_000713.2:p.(Val891=)	NC_000007.13:g.81593577T>C	(Likely) benign	1 lab	ef5fc6111f
2:238266478 COL6A3 G>T	2	238266478	238266478	G	T	COL6A3	c.6519C>A	NM_004369.4	NP_004360.2:p.(Thr2173=)	NC_000002.11:g.238266478G>T	(Likely) benign	1 lab	ef60d8b9fc
6:33134278 COL11A2 G>A	6	33134278	33134278	G	A	COL11A2	c.4392+12C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33134278G>A	(Likely) benign	1 lab	ef6296c185
15:71535236 THSD4 C>T	15	71535236	71535236	C	T	THSD4	c.713C>T	NM_024817.2	NP_079093.2:p.(Ala238Val)	NC_000015.9:g.71535236C>T	(Likely) benign	1 lab	ef64ba7f78
6:15593316 DTNBP1 T>C	6	15593316	15593316	T	C	DTNBP1	c.489-4A>G	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593316T>C	(Likely) benign	1 lab	ef65e9f60b
2:121747112 GLI2 C>G	2	121747112	121747112	C	G	GLI2	c.3622C>G	NM_001371271.1	NP_001358200.1:p.(Arg1208Gly)	NC_000002.11:g.121747112C>G	VUS	1 lab	ef6b3165f9
12:66905796 GRIP1 Ref too long to show for this DEL>T	12	66905796	66921788	Ref too long to show for this DEL	T	GRIP1	c.502+1823_724+3602del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66905797_66921788del	VUS	1 lab	ef6cb12940
2:179426819 TTN A>C	2	179426819	179426819	A	C	TTN	c.76336T>G	NM_133378.4	NP_596869.4:p.(Ser25446Ala)	NC_000002.11:g.179426819A>C	VUS	1 lab	ef6deb1f3b
12:2566788 CACNA1C G>C	12	2566788	2566788	G	C	CACNA1C	c.673G>C	NM_199460.4	NP_955630.3:p.(Gly225Arg)	NC_000012.11:g.2566788G>C	VUS	1 lab	ef6faa9f0b
12:2675678 CACNA1C G>A	12	2675678	2675678	G	A	CACNA1C	c.1599G>A	NM_199460.4	NP_955630.3:p.(Leu533=)	NC_000012.11:g.2675678G>A	(Likely) benign	1 lab	ef700a044d
X:70443821 GJB1 T>A	X	70443821	70443821	T	A	GJB1	c.264T>A	NM_000166.6	NP_000157.1:p.(Ala88=)	NC_000023.10:g.70443821T>A	(Likely) benign	1 lab	ef7013f260
11:299371 IFITM5 C>A	11	299371	299371	C	A	IFITM5	c.120G>T	NM_001025295.3	NP_001020466.1:p.(Ser40=)	NC_000011.9:g.299371C>A	(Likely) benign	1 lab	ef71d07efe
20:10625554 JAG1 C>T	20	10625554	10625554	C	T	JAG1	c.2301G>A	NM_000214.3	NP_000205.1:p.(Thr767=)	NC_000020.10:g.10625554C>T	(Likely) benign	1 lab	ef79127f29
16:83941865 MLYCD G>C	16	83941865	83941865	G	C	MLYCD	c.776G>C	NM_012213.3	NP_036345.2:p.(Gly259Ala)	NC_000016.9:g.83941865G>C	(Likely) benign	1 lab	ef7b82a2d9
5:179260661 SQSTM1 G>A	5	179260661	179260661	G	A	SQSTM1	c.1044G>A	NM_003900.5	NP_003891.1:p.(Pro348=)	NC_000005.9:g.179260661G>A	(Likely) benign	1 lab	ef7ba271dc
1:55509668 PCSK9 T>C	1	55509668	55509668	T	C	PCSK9	c.360T>C	NM_174936.4	NP_777596.2:p.(Pro120=)	NC_000001.10:g.55509668T>C	(Likely) benign	1 lab	ef7d5c5e68
1:1688600 NADK T>C	1	1688600	1688600	T	C	NADK	c.725A>G	NM_001198994.2	NP_001185923.1:p.(Lys242Arg)	NC_000001.10:g.1688600T>C	(Likely) benign	1 lab	ef82035be5
2:179464276 TTN T>C	2	179464276	179464276	T	C	TTN	c.48643+5A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179464276T>C	(Likely) benign	1 lab	ef851c7d27
18:47095887 LIPG C>A	18	47095887	47095887	C	A	LIPG	c.540C>A	NM_006033.4	NP_006024.1:p.(Asn180Lys)	NC_000018.9:g.47095887C>A	VUS	1 lab	ef869187d1
7:27149966 HOXA3 C>A	7	27149966	27149966	C	A	HOXA3	c.294G>T	NM_153631.3	NP_705895.1:p.(Ala98=)	NC_000007.13:g.27149966C>A	(Likely) benign	1 lab	ef88f766d7
4:84253148 MISSING Ref too long to show for this DEL>G	4	84253148	84695440	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.84253151_84695440del	VUS	1 lab	ef8a243335
2:179584003 TTN G>A	2	179584003	179584003	G	A	TTN	c.24114C>T	NM_001267550.2	NP_001254479.2:p.(Asn8038=)	NC_000002.11:g.179584003G>A	(Likely) benign	1 lab	ef8a2947c1
1:12034731 PLOD1 C>T	1	12034731	12034731	C	T	PLOD1	c.2050C>T	NM_000302.4	NP_000293.2:p.(Arg684Cys)	NC_000001.10:g.12034731C>T	VUS	1 lab	ef8a2d05ef
3:132407739 NPHP3 G>C	3	132407739	132407739	G	C	NPHP3	c.2884-4C>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132407739G>C	(Likely) benign	1 lab	ef8ab5a5c0
16:67976253 LCAT G>A	16	67976253	67976253	G	A	LCAT	c.748+13C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976253G>A	(Likely) benign	1 lab	ef8c202639
2:167142894 SCN9A G>A	2	167142894	167142894	G	A	SCN9A	c.1554C>T	NM_002977.3	NP_002968.1:p.(Val518=)	NC_000002.11:g.167142894G>A	(Likely) benign	1 lab	ef907c7cbb
3:123356870 MYLK C>G	3	123356870	123356870	C	G	MYLK	c.4961+48G>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123356870C>G	(Likely) benign	1 lab	ef93108f01
9:20917549 MISSING Ref too long to show for this DEL>A	9	20917549	21104437	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.20917550_21104437del	VUS	1 lab	ef932236d9
X:12516869 FRMPD4 GGATGGGAGATGACGGCAAACCGA>G	X	12516869	12516898	GGATGGGAGATGACGGCAAACCGA	G	FRMPD4	c.119_141del	NM_014728.3	NP_055543.2:p.(Glu40AlafsTer15)	NC_000023.10:g.12516876_12516898del	(Likely) pathogenic	1 lab	ef94eed1c1
8:75275175 GDAP1 C>G	8	75275175	75275175	C	G	GDAP1	c.581C>G	NM_018972.4	NP_061845.2:p.(Ser194Ter)	NC_000008.10:g.75275175C>G	(Likely) pathogenic	1 lab	ef9715623a
2:121747372 GLI2 G>A	2	121747372	121747372	G	A	GLI2	c.3882G>A	NM_005270.5	NP_005261.2:p.(Thr1294=)	NC_000002.11:g.121747372G>A	(Likely) benign	1 lab	ef982553b3
1:74834890 TNNI3K G>A	1	74834890	74834890	G	A	TNNI3K	c.1415-1G>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74834890G>A	VUS	1 lab	ef990ea2c3
6:32714125 HLA-DQA2 A>G	6	32714125	32714125	A	G	HLA-DQA2	c.722A>G	NM_020056.5	NP_064440.1:p.(Gln241Arg)	NC_000006.11:g.32714125A>G	(Likely) benign	1 lab	ef99c51a4a
10:114903782 TCF7L2 AC>A	10	114903782	114903783	AC	A	TCF7L2	c.718del	NM_001198525.2	NP_001185454.1:p.(Gln240SerfsTer22)	NC_000010.10:g.114903783del	VUS	1 lab	ef9a4c3d11
6:66112357 EYS A>G	6	66112357	66112357	A	G	EYS	c.1184+14T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.66112357A>G	(Likely) benign	1 lab	ef9bf0e395
17:79173567 CEP131 C>T	17	79173567	79173567	C	T	CEP131	c.975G>A	NM_001319228.2	NP_001306157.1:p.(Arg325=)	NC_000017.10:g.79173567C>T	(Likely) benign	1 lab	efa15047b2
5:38482225 LIFR A>G	5	38482225	38482225	A	G	LIFR	c.2766T>C	NM_001127671.2	NP_001121143.1:p.(Asp922=)	NC_000005.9:g.38482225A>G	(Likely) benign	1 lab	efa23dffff
2:110881450 NPHP1 G>A	2	110881450	110881450	G	A	NPHP1	c.2120C>T	NM_000272.5	NP_000263.2:p.(Ser707Leu)	NC_000002.11:g.110881450G>A	(Likely) benign	1 lab	efa27e4054
X:100652872 GLA ACTT>A	X	100652872	100652878	ACTT	A	GLA	c.1212_1214del	NM_000169.3	NP_000160.1:p.(Arg404del)	NC_000023.10:g.100652876_100652878del	VUS	1 lab	efa2fe65f4
X:32398743 DMD G>A	X	32398743	32398743	G	A	DMD	c.4360C>T	NM_004010.3	NP_004001.1:p.(Arg1454Ter)	NC_000023.10:g.32398743G>A	(Likely) pathogenic	1 lab	efa7145b4e
12:124413109 DNAH10 T>C	12	124413109	124413109	T	C	DNAH10	c.11927T>C	NM_207437.3	NP_997320.2:p.(Ile3976Thr)	NC_000012.11:g.124413109T>C	(Likely) benign	1 lab	efa71b23ff
5:86674318 RASA1 CTA>C	5	86674318	86674321	CTA	C	RASA1	c.2452_2453del	NM_002890.3	NP_002881.1:p.(Ile818PhefsTer11)	NC_000005.9:g.86674320_86674321del	(Likely) pathogenic	1 lab	efa72b005f
7:83277699 SEMA3E C>T	7	83277699	83277699	C	T	SEMA3E	c.115+45G>A	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83277699C>T	(Likely) benign	1 lab	efa9f6e57f
2:179578735 TTN C>G	2	179578735	179578735	C	G	TTN	c.26650G>C	NM_001267550.2	NP_001254479.2:p.(Val8884Leu)	NC_000002.11:g.179578735C>G	VUS	1 lab	efab5c849b
17:9124464 NTN1 T>TC	17	9124464	9124472	T	TC	NTN1	c.1412-13dup	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9124472dup	(Likely) benign	1 lab	efadfa6cba
8:75272519 GDAP1 C>T	8	75272519	75272519	C	T	GDAP1	c.458C>T	NM_018972.4	NP_061845.2:p.(Pro153Leu)	NC_000008.10:g.75272519C>T	(Likely) pathogenic	1 lab	efaf399a7f
11:108186789 ATM T>C	11	108186789	108186789	T	C	ATM	c.6147T>C	NM_000051.4	NP_000042.3:p.(Tyr2049=)	NC_000011.9:g.108186789T>C	(Likely) benign	1 lab	efb031ed56
2:21230147 APOB C>G	2	21230147	21230147	C	G	APOB	c.9593G>C	NM_000384.3	NP_000375.3:p.(Ser3198Thr)	NC_000002.11:g.21230147C>G	VUS	1 lab	efb0c1ae94
2:21251421 APOB A>C	2	21251421	21251421	A	C	APOB	c.1618-11T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21251421A>C	(Likely) benign	1 lab	efb42afc41
2:152474840 NEB C>T	2	152474840	152474840	C	T	NEB	c.11025G>A	NM_001271208.2	NP_001258137.2:p.(Thr3675=)	NC_000002.11:g.152474840C>T	(Likely) benign	1 lab	efb72d2bc6
16:72821593 ZFHX3 A>AGCCGCC	16	72821593	72821617	A	AGCCGCC	ZFHX3	c.10576_10581dup	NM_006885.4	NP_008816.3:p.(Gly3526_Gly3527dup)	NC_000016.9:g.72821612_72821617dup	(Likely) benign	1 lab	efb824a272
15:85399338 ALPK3 G>A	15	85399338	85399338	G	A	ALPK3	c.1654-285G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85399338G>A	(Likely) benign	1 lab	efba29a98d
8:75272408 GDAP1 T>C	8	75272408	75272408	T	C	GDAP1	c.347T>C	NM_018972.4	NP_061845.2:p.(Met116Thr)	NC_000008.10:g.75272408T>C	(Likely) pathogenic	1 lab	efbd761d40
1:47882605 FOXE3 C>G	1	47882605	47882605	C	G	FOXE3	c.618C>G	NM_012186.3	NP_036318.1:p.(Ala206=)	NC_000001.10:g.47882605C>G	(Likely) benign	1 lab	efbe2706c4
17:48434008 XYLT2 C>T	17	48434008	48434008	C	T	XYLT2	c.1619C>T	NM_022167.4	NP_071450.2:p.(Thr540Ile)	NC_000017.10:g.48434008C>T	(Likely) benign	1 lab	efc049ea02
2:179454638 TTN A>G	2	179454638	179454638	A	G	TTN	c.61814T>C	NM_001267550.2	NP_001254479.2:p.(Ile20605Thr)	NC_000002.11:g.179454638A>G	VUS	1 lab	efc2f181c0
16:57005227 CETP C>T	16	57005227	57005227	C	T	CETP	c.598-6C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005227C>T	(Likely) benign	1 lab	efc3a7b979
9:133543700 PRDM12 G>GGTGT	9	133543700	133543717	G	GGTGT	PRDM12	c.570+14_570+17dup	NM_021619.3	NP_067632.2:p.?	NC_000009.11:g.133543714_133543717dup	(Likely) benign	1 lab	efca005768
10:88478524 LDB3 G>T	10	88478524	88478524	G	T	LDB3	c.1913G>T	NM_001171610.2	NP_001165081.1:p.(Cys638Phe)	NC_000010.10:g.88478524G>T	VUS	1 lab	efcd60370f
19:41848103 TGFB1 C>A	19	41848103	41848103	C	A	TGFB1	c.684G>T	NM_000660.7	NP_000651.3:p.(Arg228Ser)	NC_000019.9:g.41848103C>A	VUS	1 lab	f0565bd31d
6:64498153 EYS G>GA	6	64498153	64498161	G	GA	EYS	c.7579-12dup	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64498161dup	(Likely) benign	1 lab	efcfa68f76
22:46932660 CELSR1 G>A	22	46932660	46932660	G	A	CELSR1	c.408C>T	NM_001378328.1	NP_001365257.1:p.(Pro136=)	NC_000022.10:g.46932660G>A	(Likely) benign	1 lab	efd1f26c58
9:119233354 ASTN2 Ref too long to show for this DEL>G	9	119233354	119402075	Ref too long to show for this DEL	G	ASTN2	c.3072+11733_3497+16283del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119233356_119402075del	VUS	1 lab	efd800d55f
3:129631750 MISSING G>Alt too long to show for this DUP	3	129631750	129734341	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.129631751_129734341dup	VUS	1 lab	efd899c78a
16:66583871 TK2 G>A	16	66583871	66583871	G	A	TK2	c.94C>T	NM_004614.5	NP_004605.4:p.(Arg32Trp)	NC_000016.9:g.66583871G>A	(Likely) benign	1 lab	efda0416eb
8:10466933 RP1L1 C>T	8	10466933	10466933	C	T	RP1L1	c.4675G>A	NM_178857.6	NP_849188.4:p.(Glu1559Lys)	NC_000008.10:g.10466933C>T	(Likely) benign	1 lab	efdf5339b1
2:220113930 MISSING Ref too long to show for this DEL>G	2	220113930	223045312	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.220113932_223045312del	(Likely) pathogenic	1 lab	efe0d00bf7
5:133957165 SAR1B AAAAT>A	5	133957165	133957205	AAAAT	A	SAR1B	c.59-427_59-424del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133957202_133957205del	(Likely) benign	1 lab	efe4ec79ae
13:110861764 COL4A1 C>T	13	110861764	110861764	C	T	COL4A1	c.626G>A	NM_001845.6	NP_001836.3:p.(Gly209Asp)	NC_000013.10:g.110861764C>T	(Likely) pathogenic	1 lab	efe67b8b0f
13:77566093 CLN5 C>T	13	77566093	77566093	C	T	CLN5				NC_000013.10:g.77566093C>T	VUS	1 lab	efe6e68c4d
3:123376039 MYLK T>C	3	123376039	123376039	T	C	MYLK	c.4222A>G	NM_053025.4	NP_444253.3:p.(Asn1408Asp)	NC_000003.11:g.123376039T>C	VUS	1 lab	efec704354
9:137619254 COL5A1 T>G	9	137619254	137619254	T	G	COL5A1	c.786+11T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137619254T>G	(Likely) benign	1 lab	efef9712ae
2:179519522 TTN T>G	2	179519522	179519522	T	G	TTN	c.38156A>C	NM_001267550.2	NP_001254479.2:p.(Lys12719Thr)	NC_000002.11:g.179519522T>G	VUS	1 lab	eff01f36a7
X:49087419 CACNA1F GA>G	X	49087419	49087423	GA	G	CACNA1F	c.413del	NM_005183.4	NP_005174.2:p.(Phe138SerfsTer65)	NC_000023.10:g.49087423del	(Likely) pathogenic	1 lab	eff048c5c3
5:52398005 MOCS2 T>C	5	52398005	52398005	T	C	MOCS2	c.148A>G	NM_004531.5	NP_004522.1:p.(Thr50Ala)	NC_000005.9:g.52398005T>C	(Likely) benign	1 lab	eff5530fdc
1:55529092 PCSK9 C>G	1	55529092	55529092	C	G	PCSK9	c.1914C>G	NM_174936.4	NP_777596.2:p.(Leu638=)	NC_000001.10:g.55529092C>G	(Likely) benign	1 lab	effd066be3
3:37089185 MLH1 C>T	3	37089185	37089185	C	T	MLH1	c.1896+11C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37089185C>T	(Likely) benign	1 lab	f006bfe05b
19:39008015 RYR1 CA>C	19	39008015	39008016	CA	C	RYR1	c.9703del	NM_000540.3	NP_000531.2:p.(Ser3235ValfsTer86)	NC_000019.9:g.39008016del	(Likely) pathogenic	1 lab	f008372a74
5:141059649 ARAP3 A>G	5	141059649	141059649	A	G	ARAP3	c.405T>C	NM_022481.6	NP_071926.4:p.(Pro135=)	NC_000005.9:g.141059649A>G	(Likely) benign	1 lab	f008fd22e5
2:219677424 CYP27A1 C>T	2	219677424	219677424	C	T	CYP27A1	c.796C>T	NM_000784.4	NP_000775.1:p.(Pro266Ser)	NC_000002.11:g.219677424C>T	VUS	1 lab	f00d4177ac
4:100529929 MTTP A>G	4	100529929	100529929	A	G	MTTP	c.1564A>G	NM_000253.4	NP_000244.2:p.(Lys522Glu)	NC_000004.11:g.100529929A>G	VUS	1 lab	f00d626638
8:103596788 MISSING G>Alt too long to show for this DUP	8	103596788	103676738	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.103596789_103676738dup	VUS	1 lab	f00fd827be
2:121744159 GLI2 G>T	2	121744159	121744159	G	T	GLI2	c.2262G>T	NM_001371271.1	NP_001358200.1:p.(Arg754=)	NC_000002.11:g.121744159G>T	(Likely) benign	1 lab	f010eaa418
7:107692681 LAMB4 A>G	7	107692681	107692681	A	G	LAMB4	c.3777T>C	NM_007356.3	NP_031382.2:p.(Asn1259=)	NC_000007.13:g.107692681A>G	(Likely) benign	1 lab	f018f27e75
17:47237990 B4GALNT2 C>T	17	47237990	47237990	C	T	B4GALNT2	c.933C>T	NM_153446.3	NP_703147.2:p.(Tyr311=)	NC_000017.10:g.47237990C>T	(Likely) benign	1 lab	f01d29f196
2:21242612 APOB C>T	2	21242612	21242612	C	T	APOB	c.2982G>A	NM_000384.3	NP_000375.3:p.(Pro994=)	NC_000002.11:g.21242612C>T	(Likely) benign	1 lab	f01ea95f21
11:116661537 APOA5 C>G	11	116661537	116661537	C	G	APOA5	c.408G>C	NM_052968.5	NP_443200.2:p.(Leu136=)	NC_000011.9:g.116661537C>G	(Likely) benign	1 lab	f021489e73
16:29808198 KIF22 ATCT>A	16	29808198	29808204	ATCT	A	KIF22	c.71-12_71-10del	NM_007317.3	NP_015556.1:p.?	NC_000016.9:g.29808202_29808204del	(Likely) benign	1 lab	f0223c1f10
8:17942204 ASAH1 C>T	8	17942204	17942204	C	T	ASAH1	c.107G>A	NM_004315.6	NP_004306.3:p.(Ser36Asn)	NC_000008.10:g.17942204C>T	(Likely) benign	1 lab	f0295e2ced
19:51885677 LIM2 GA>G	19	51885677	51885684	GA	G	LIM2	c.445del	NM_030657.4	NP_085915.2:p.(Ser149ProfsTer43)	NC_000019.9:g.51885684del	VUS	1 lab	f029d441ea
10:6314593 MISSING Ref too long to show for this DEL>G	10	6314593	7350050	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.6314594_7350050del	VUS	1 lab	f02a80187d
14:31808926 MISSING Ref too long to show for this DEL>A	14	31808926	31977462	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.31808935_31977462del	VUS	1 lab	f02b581ecb
2:241724458 KIF1A A>G	2	241724458	241724458	A	G	KIF1A	c.668T>C	NM_001244008.2	NP_001230937.1:p.(Ile223Thr)	NC_000002.11:g.241724458A>G	VUS	1 lab	f02db7423b
1:145298220 NBPF10 G>A	1	145298220	145298220	G	A	NBPF10	c.632G>A	NM_001039703.6	NP_001034792.4:p.(Cys211Tyr)	NC_000001.10:g.145298220G>A	(Likely) benign	1 lab	f02ec39240
22:51135973 SHANK3 T>G	22	51135973	51135973	T	G	SHANK3	c.1567-12T>G	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135973T>G	(Likely) benign	1 lab	f02ff99baf
2:21231371 APOB G>A	2	21231371	21231371	G	A	APOB	c.8369C>T	NM_000384.3	NP_000375.3:p.(Ala2790Val)	NC_000002.11:g.21231371G>A	(Likely) benign	1 lab	f0385e5ab2
2:73675543 ALMS1 C>CT	2	73675543	73675548	C	CT	ALMS1	c.1897dup	NM_015120.4	NP_055935.4:p.(Tyr633LeufsTer9)	NC_000002.11:g.73675548dup	(Likely) pathogenic	1 lab	f0391dbd06
2:241490005 MISSING T>Alt too long to show for this DUP	2	241490005	241694198	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.241490006_241694198dup	VUS	1 lab	f0398c639c
5:52397355 MOCS2 A>AAAAG	5	52397355	52397362	A	AAAAG	MOCS2	c.227-20_227-17dup	NM_004531.5	NP_004522.1:p.?	NC_000005.9:g.52397359_52397362dup	(Likely) benign	1 lab	f03ddf6df8
8:77764813 ZFHX4 A>T	8	77764813	77764813	A	T	ZFHX4	c.5656A>T	NM_024721.5	NP_078997.4:p.(Lys1886Ter)	NC_000008.10:g.77764813A>T	VUS	1 lab	f03ef3f08c
6:42146002 GUCA1A C>T	6	42146002	42146002	C	T	GUCA1A	c.202-16C>T	NM_001384910.1	NP_001371839.1:p.?	NC_000006.11:g.42146002C>T	(Likely) benign	1 lab	f041bb842b
2:44066544 ABCG8 T>C	2	44066544	44066544	T	C	ABCG8	c.63+289T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066544T>C	(Likely) benign	1 lab	f051337b1b
10:69909802 MYPN G>A	10	69909802	69909802	G	A	MYPN	c.369G>A	NM_001256268.2	NP_001243197.1:p.(Gln123=)	NC_000010.10:g.69909802G>A	(Likely) benign	1 lab	f043070ba6
19:18273878 PIK3R2 A>G	19	18273878	18273878	A	G	PIK3R2	c.1211A>G	NM_005027.4	NP_005018.2:p.(His404Arg)	NC_000019.9:g.18273878A>G	VUS	1 lab	f0441a3416
2:210694093 UNC80 G>A	2	210694093	210694093	G	A	UNC80	c.2616G>A	NM_032504.2	NP_115893.1:p.(Pro872=)	NC_000002.11:g.210694093G>A	(Likely) benign	1 lab	f04424e834
4:100512380 MTTP C>T	4	100512380	100512380	C	T	MTTP	c.502-12C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512380C>T	(Likely) benign	1 lab	f046893648
19:52822681 MISSING Ref too long to show for this DEL>T	19	52822681	52976878	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.52822682_52976878del	VUS	1 lab	f0477808a1
7:153750160 DPP6 TC>T	7	153750160	153750161	TC	T	DPP6	c.243+13del	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.153750161del	(Likely) benign	1 lab	f0477e3751
6:169641752 THBS2 G>A	6	169641752	169641752	G	A	THBS2	c.996C>T	NM_001381941.1	NP_001368870.1:p.(Cys332=)	NC_000006.11:g.169641752G>A	(Likely) benign	1 lab	f047fa2ca1
17:19702892 ULK2 CA>C	17	19702892	19702910	CA	C	ULK2	c.1442-5del	NM_014683.4	NP_055498.3:p.?	NC_000017.10:g.19702910del	(Likely) benign	1 lab	f04c5161e4
5:176815130 SLC34A1 CCGTGATGCTCCTGACCTGCTCAAGATCAT>C	5	176815130	176815160	CCGTGATGCTCCTGACCTGCTCAAGATCAT	C	SLC34A1	c.782_810del	NM_003052.5	NP_003043.3:p.(Arg261HisfsTer23)	NC_000005.9:g.176815132_176815160del	(Likely) pathogenic	1 lab	f04c5981c7
X:3578222 PRKX Ref too long to show for this DEL>T	X	3578222	3616344	Ref too long to show for this DEL	T	PRKX	c.166+14785_336-4770del	NM_005044.5	NP_005035.1:p.?	NC_000023.10:g.3578223_3616344del	(Likely) pathogenic	1 lab	f04df15ca4
17:36486135 GPR179 C>T	17	36486135	36486135	C	T	GPR179	c.3317G>A	NM_001004334.4	NP_001004334.3:p.(Ser1106Asn)	NC_000017.10:g.36486135C>T	VUS	1 lab	f04e2d5d7a
17:40556966 CAVIN1 G>A	17	40556966	40556966	G	A	CAVIN1	c.912C>T	NM_012232.6	NP_036364.2:p.(Asp304=)	NC_000017.10:g.40556966G>A	(Likely) benign	1 lab	f0514900d7
8:133953792 TG T>C	8	133953792	133953792	T	C	TG	c.5233+5T>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133953792T>C	(Likely) benign	1 lab	f05462b533
11:73483398 MISSING T>Alt too long to show for this DUP	11	73483398	73638725	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.73483400_73638725dup	VUS	1 lab	f05951ed0f
8:24814011 NEFL C>T	8	24814011	24814011	C	T	NEFL	c.19G>A	NM_006158.5	NP_006149.2:p.(Glu7Lys)	NC_000008.10:g.24814011C>T	(Likely) pathogenic	1 lab	f05f70c56b
22:41075722 MCHR1 T>C	22	41075722	41075722	T	C	MCHR1	c.66T>C	NM_005297.4	NP_005288.4:p.(Asp22=)	NC_000022.10:g.41075722T>C	(Likely) benign	1 lab	f0605c6e7f
12:132547093 EP400 A>ACAGCAG	12	132547093	132547137	A	ACAGCAG	EP400	c.8220_8225dup	NM_015409.5	NP_056224.3:p.(Gln2747_Gln2748dup)	NC_000012.11:g.132547132_132547137dup	(Likely) benign	1 lab	f06255ed36
18:47110460 LIPG G>A	18	47110460	47110460	G	A	LIPG	c.1376+316G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47110460G>A	(Likely) benign	1 lab	f063a489c9
20:62119594 EEF1A2 GC>G	20	62119594	62119597	GC	G	EEF1A2	c.*56del	NM_001958.5	NP_001949.1:p.?	NC_000020.10:g.62119597del	(Likely) benign	1 lab	f066b4a7bf
16:15829580 MYH11 G>A	16	15829580	15829580	G	A	MYH11	c.3315-145C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15829580G>A	(Likely) benign	1 lab	f06753512c
19:2249614 AMH C>T	19	2249614	2249614	C	T	AMH	c.283C>T	NM_000479.5	NP_000470.3:p.(Arg95Ter)	NC_000019.9:g.2249614C>T	(Likely) pathogenic	1 lab	f067fe81dd
19:40328362 FBL C>T	19	40328362	40328362	C	T	FBL	c.671G>A	NM_001436.4	NP_001427.2:p.(Arg224His)	NC_000019.9:g.40328362C>T	VUS	1 lab	f06a073fde
19:7601440 PNPLA6 T>A	19	7601440	7601440	T	A	PNPLA6	c.440+8T>A	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7601440T>A	(Likely) benign	1 lab	f06b8bc546
X:70443658 GJB1 T>C	X	70443658	70443658	T	C	GJB1	c.101T>C	NM_000166.6	NP_000157.1:p.(Met34Thr)	NC_000023.10:g.70443658T>C	(Likely) pathogenic	1 lab	f06bf38c53
2:21230523 APOB T>C	2	21230523	21230523	T	C	APOB	c.9217A>G	NM_000384.3	NP_000375.3:p.(Asn3073Asp)	NC_000002.11:g.21230523T>C	(Likely) benign	1 lab	f0704b465e
11:68115486 LRP5 A>G	11	68115486	68115486	A	G	LRP5	c.263A>G	NM_002335.4	NP_002326.2:p.(Lys88Arg)	NC_000011.9:g.68115486A>G	(Likely) benign	1 lab	f073d0901f
20:60737791 SS18L1 C>T	20	60737791	60737791	C	T	SS18L1	c.-17-17C>T	NM_001301778.2	NP_001288707.1:p.?	NC_000020.10:g.60737791C>T	(Likely) benign	1 lab	f073d60042
18:47101968 LIPG C>T	18	47101968	47101968	C	T	LIPG	c.793+8C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47101968C>T	(Likely) benign	1 lab	f076d883d3
22:50662558 TUBGCP6 G>A	22	50662558	50662558	G	A	TUBGCP6	c.2270+12C>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50662558G>A	(Likely) benign	1 lab	f07719990d
5:168446770 MISSING C>Alt too long to show for this DUP	5	168446770	169134253	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.168446771_169134253dup	VUS	1 lab	f07832fe1e
1:2160960 SKI T>G	1	2160960	2160960	T	G	SKI	c.755T>G	NM_003036.4	NP_003027.1:p.(Leu252Arg)	NC_000001.10:g.2160960T>G	VUS	1 lab	f079c0aebe
2:21230022 APOB C>T	2	21230022	21230022	C	T	APOB	c.9718G>A	NM_000384.3	NP_000375.3:p.(Asp3240Asn)	NC_000002.11:g.21230022C>T	VUS	1 lab	f07a60301a
16:23641508 PALB2 G>GGAAAAATACAGCTTCCTCT	16	23641508	23641525	G	GGAAAAATACAGCTTCCTCT	PALB2	c.1966_1967insAGAGGAAGCTGTATTTTTC	NM_024675.4	NP_078951.2:p.(Pro656GlnfsTer13)	NC_000016.9:g.23641524_23641525insTCTGAAAAATACAGCTTCC	(Likely) pathogenic	1 lab	f084a48819
2:21225528 APOB C>T	2	21225528	21225528	C	T	APOB	c.12766G>A	NM_000384.3	NP_000375.3:p.(Glu4256Lys)	NC_000002.11:g.21225528C>T	(Likely) benign	1 lab	f0850e3edc
16:918779 LMF1 G>C	16	918779	918779	G	C	LMF1	c.1130+165C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918779G>C	(Likely) benign	1 lab	f08a1c36a6
9:107558691 ABCA1 G>A	9	107558691	107558691	G	A	ABCA1	c.5136C>T	NM_005502.4	NP_005493.2:p.(Val1712=)	NC_000009.11:g.107558691G>A	(Likely) benign	1 lab	f08a59d822
8:19819217 LPL A>C	8	19819217	19819217	A	C	LPL	c.1323-409A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819217A>C	(Likely) benign	1 lab	f08ab12073
14:102471217 DYNC1H1 A>G	14	102471217	102471217	A	G	DYNC1H1	c.5168A>G	NM_001376.5	NP_001367.2:p.(Glu1723Gly)	NC_000014.8:g.102471217A>G	(Likely) benign	1 lab	f08b006027
3:49698910 BSN C>A	3	49698910	49698910	C	A	BSN	c.9632C>A	NM_003458.4	NP_003449.2:p.(Ala3211Asp)	NC_000003.11:g.49698910C>A	(Likely) benign	1 lab	f08b28c0eb
1:216501010 USH2A CAT>C	1	216501010	216501012	CAT	C	USH2A	c.785-16_785-15del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216501011_216501012del	(Likely) benign	1 lab	f08ed5581b
15:78454044 IDH3A C>T	15	78454044	78454044	C	T	IDH3A	c.411C>T	NM_005530.3	NP_005521.1:p.(Tyr137=)	NC_000015.9:g.78454044C>T	(Likely) benign	1 lab	f090bfb69c
15:66868737 MISSING C>Alt too long to show for this DUP	15	66868737	66971922	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.66868738_66971922dup	VUS	1 lab	f092f10c53
12:20874990 SLCO1C1 C>G	12	20874990	20874990	C	G	SLCO1C1	c.1021+7C>G	NM_001145946.2	NP_001139418.1:p.?	NC_000012.11:g.20874990C>G	(Likely) benign	1 lab	f093cbc900
5:138260337 CTNNA1 A>G	5	138260337	138260337	A	G	CTNNA1	c.1685A>G	NM_001903.5	NP_001894.2:p.(Asn562Ser)	NC_000005.9:g.138260337A>G	VUS	1 lab	f094acb732
18:48581250 SMAD4 C>T	18	48581250	48581250	C	T	SMAD4	c.554C>T	NM_005359.6	NP_005350.1:p.(Pro185Leu)	NC_000018.9:g.48581250C>T	VUS	1 lab	f09869e390
19:11221925 LDLR C>CA	19	11221925	11221935	C	CA	LDLR	c.1061-255dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221935dup	(Likely) benign	1 lab	f09966693b
16:68835783 CDH1 C>T	16	68835783	68835783	C	T	CDH1	c.374C>T	NM_004360.5	NP_004351.1:p.(Pro125Leu)	NC_000016.9:g.68835783C>T	VUS	1 lab	f09b2c037c
8:1857548 ARHGEF10 T>C	8	1857548	1857548	T	C	ARHGEF10	c.2127T>C	NM_001308153.2	NP_001295082.1:p.(Tyr709=)	NC_000008.10:g.1857548T>C	(Likely) benign	1 lab	f09cc1567b
9:134393834 POMT1 A>G	9	134393834	134393834	A	G	POMT1	c.1275A>G	NM_001136113.2	NP_001129585.1:p.(Glu425=)	NC_000009.11:g.134393834A>G	(Likely) benign	1 lab	f09d34fe89
8:19813396 LPL C>A	8	19813396	19813396	C	A	LPL	c.820C>A	NM_000237.3	NP_000228.1:p.(Leu274Ile)	NC_000008.10:g.19813396C>A	VUS	1 lab	f09d90a9d2
16:29824955 PRRT2 G>A	16	29824955	29824955	G	A	PRRT2	c.580G>A	NM_001256443.2	NP_001243372.1:p.(Glu194Lys)	NC_000016.9:g.29824955G>A	VUS	1 lab	f0a39eb21c
5:36906376 MISSING Ref too long to show for this DEL>T	5	36906376	37423097	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.36906377_37423097del	(Likely) pathogenic	1 lab	f0a55b4795
2:44102404 ABCG8 G>A	2	44102404	44102404	G	A	ABCG8	c.1608G>A	NM_022437.3	NP_071882.1:p.(Trp536Ter)	NC_000002.11:g.44102404G>A	(Likely) pathogenic	1 lab	f0a65726fc
5:172661909 NKX2-5 C>T	5	172661909	172661909	C	T	NKX2-5	c.178G>A	NM_001166175.2	NP_001159647.1:p.(Glu60Lys)	NC_000005.9:g.172661909C>T	VUS	1 lab	f0a8993f49
19:11215812 LDLR G>A	19	11215812	11215812	G	A	LDLR	c.314-84G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215812G>A	(Likely) benign	1 lab	f0a8f59166
17:36485794 GPR179 CAG>C	17	36485794	36485796	CAG	C	GPR179	c.3656_3657del	NM_001004334.4	NP_001004334.3:p.(Pro1219ArgfsTer18)	NC_000017.10:g.36485795_36485796del	VUS	1 lab	f0ab15112e
6:15593320 DTNBP1 A>AG	6	15593320	15593321	A	AG	DTNBP1	c.489-9_489-8insC	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15593320_15593321insG	(Likely) benign	1 lab	f0ac94a9fd
18:29122693 DSG2 G>A	18	29122693	29122693	G	A	DSG2	c.2212G>A	NM_001943.5	NP_001934.2:p.(Ala738Thr)	NC_000018.9:g.29122693G>A	VUS	1 lab	f0acdeb93c
3:42727710 KLHL40 G>A	3	42727710	42727710	G	A	KLHL40	c.600G>A	NM_152393.4	NP_689606.2:p.(Arg200=)	NC_000003.11:g.42727710G>A	(Likely) benign	1 lab	f0ad3b1f22
11:61719438 BEST1 T>C	11	61719438	61719438	T	C	BEST1	c.-29+1539T>C	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61719438T>C	(Likely) benign	1 lab	f0b39d7d18
9:135171298 SETX C>G	9	135171298	135171298	C	G	SETX	c.6067G>C	NM_015046.7	NP_055861.3:p.(Glu2023Gln)	NC_000009.11:g.135171298C>G	VUS	1 lab	f0b57a9e35
19:33696744 LRP3 C>T	19	33696744	33696744	C	T	LRP3	c.1068C>T	NM_002333.4	NP_002324.2:p.(His356=)	NC_000019.9:g.33696744C>T	(Likely) benign	1 lab	f0b6e1e389
3:10089654 FANCD2 C>T	3	10089654	10089654	C	T	FANCD2	c.1332C>T	NM_033084.6	NP_149075.2:p.(His444=)	NC_000003.11:g.10089654C>T	(Likely) benign	1 lab	f0b715a084
3:123366175 MYLK A>C	3	123366175	123366175	A	C	MYLK	c.4515T>G	NM_053025.4	NP_444253.3:p.(Asn1505Lys)	NC_000003.11:g.123366175A>C	VUS	1 lab	f0b76c391b
2:179592051 TTN C>T	2	179592051	179592051	C	T	TTN	c.20041G>A	NM_001267550.2	NP_001254479.2:p.(Ala6681Thr)	NC_000002.11:g.179592051C>T	VUS	1 lab	f0b8073b05
19:11227544 LDLR G>A	19	11227544	11227544	G	A	LDLR	c.1715G>A	NM_000527.5	NP_000518.1:p.(Ser572Asn)	NC_000019.9:g.11227544G>A	VUS	1 lab	f0b821021b
1:8695885 RERE Ref too long to show for this DEL>G	1	8695885	8716080	Ref too long to show for this DEL	G	RERE	c.277_326-11447del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8695886_8716080del	VUS	1 lab	f0b9154fd3
4:57797350 REST C>G	4	57797350	57797350	C	G	REST	c.2326C>G	NM_005612.5	NP_005603.3:p.(Pro776Ala)	NC_000004.11:g.57797350C>G	(Likely) benign	1 lab	f0bb3d5030
7:74009993 MISSING A>Alt too long to show for this DUP	7	74009993	74141494	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.74009995_74141494dup	VUS	1 lab	f0be1ce5cc
X:74318877 ABCB7 C>T	X	74318877	74318877	C	T	ABCB7	c.356G>A	NM_004299.6	NP_004290.2:p.(Arg119Gln)	NC_000023.10:g.74318877C>T	(Likely) benign	1 lab	f0be85fb35
2:179631270 TTN T>C	2	179631270	179631270	T	C	TTN	c.9541A>G	NM_001267550.2	NP_001254479.2:p.(Lys3181Glu)	NC_000002.11:g.179631270T>C	VUS	1 lab	f0c0009cc7
11:47357813 MYBPC3 A>T	11	47357813	47357813	A	T	MYBPC3	c.2603-251T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357813A>T	(Likely) benign	1 lab	f0c316193c
7:128479091 FLNC G>A	7	128479091	128479091	G	A	FLNC	c.1411+234G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128479091G>A	(Likely) benign	1 lab	f0c37abac4
2:179523823 TTN G>T	2	179523823	179523823	G	T	TTN	c.31658-8C>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179523823G>T	(Likely) benign	1 lab	f0c3b23ea0
X:328939 MISSING A>Alt too long to show for this DUP	X	328939	379522	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.328940_379522dup	(Likely) pathogenic	1 lab	f0c53ec1c3
16:14021890 ERCC4 A>G	16	14021890	14021890	A	G	ERCC4	c.590A>G	NM_005236.3	NP_005227.1:p.(His197Arg)	NC_000016.9:g.14021890A>G	(Likely) benign	1 lab	f0ca2dd59e
2:179563651 TTN A>G	2	179563651	179563651	A	G	TTN	c.30683-10T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563651A>G	(Likely) benign	1 lab	f0cb4e8191
2:27306683 EMILIN1 C>A	2	27306683	27306683	C	A	EMILIN1	c.2244C>A	NM_007046.4	NP_008977.1:p.(Arg748=)	NC_000002.11:g.27306683C>A	(Likely) benign	1 lab	f0cd3a28ac
2:179449542 TTN G>A	2	179449542	179449542	G	A	TTN	c.64826C>T	NM_001267550.2	NP_001254479.2:p.(Thr21609Met)	NC_000002.11:g.179449542G>A	VUS	1 lab	f0d18a39a7
2:21231290 APOB G>A	2	21231290	21231290	G	A	APOB	c.8450C>T	NM_000384.3	NP_000375.3:p.(Pro2817Leu)	NC_000002.11:g.21231290G>A	VUS	1 lab	f0d327a022
6:157100092 ARID1B CGCG>C	6	157100092	157100106	CGCG	C	ARID1B	c.1290_1292del	NM_001371656.1	NP_001358585.1:p.(Ala433del)	NC_000006.11:g.157100104_157100106del	(Likely) benign	1 lab	f0d5264af0
2:179397619 TTN G>A	2	179397619	179397619	G	A	TTN	c.103723C>T	NM_001267550.2	NP_001254479.2:p.(Arg34575Cys)	NC_000002.11:g.179397619G>A	VUS	1 lab	f0de55eeb7
21:47660867 MCM3AP G>A	21	47660867	47660867	G	A	MCM3AP	c.5491C>T	NM_003906.5	NP_003897.2:p.(Arg1831Cys)	NC_000021.8:g.47660867G>A	(Likely) benign	1 lab	f0e31f9715
10:50690717 ERCC6 C>T	10	50690717	50690717	C	T	ERCC6	c.2169+16G>A	NM_000124.4	NP_000115.1:p.?	NC_000010.10:g.50690717C>T	(Likely) benign	1 lab	f0e4a3952d
3:41266883 CTNNB1 GAC>G	3	41266883	41266887	GAC	G	CTNNB1	c.557_558del	NM_001904.4	NP_001895.1:p.(His186ArgfsTer21)	NC_000003.11:g.41266886_41266887del	(Likely) pathogenic	1 lab	f0eae01bc9
8:134034365 TG C>T	8	134034365	134034365	C	T	TG	c.7006C>T	NM_003235.5	NP_003226.4:p.(Arg2336Ter)	NC_000008.10:g.134034365C>T	(Likely) pathogenic	1 lab	f0ed3d6ab2
16:88498785 ZNF469 A>G	16	88498785	88498785	A	G	ZNF469	c.4907A>G	NM_001367624.2	NP_001354553.1:p.(His1636Arg)	NC_000016.9:g.88498785A>G	(Likely) benign	1 lab	f0ee66f8f2
1:237604616 RYR2 T>G	1	237604616	237604616	T	G	RYR2	c.1006-3T>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237604616T>G	(Likely) pathogenic	1 lab	f0efa92a63
2:179422177 TTN C>G	2	179422177	179422177	C	G	TTN	c.87812G>C	NM_001267550.2	NP_001254479.2:p.(Gly29271Ala)	NC_000002.11:g.179422177C>G	VUS	1 lab	f0f6e00ec8
1:161276575 MPZ G>T	1	161276575	161276575	G	T	MPZ	c.371C>A	NM_000530.8	NP_000521.2:p.(Thr124Lys)	NC_000001.10:g.161276575G>T	(Likely) pathogenic	1 lab	f0f7d443fb
2:44053517 ABCG5 T>C	2	44053517	44053517	T	C	ABCG5	c.774+4A>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053517T>C	VUS	1 lab	f0fcd5f625
4:183494149 TENM3 Ref too long to show for this DEL>T	4	183494149	183658423	Ref too long to show for this DEL	T	TENM3	c.512-27926_3235+195del	NM_001080477.4	NP_001073946.1:p.?	NC_000004.11:g.183494151_183658423del	VUS	1 lab	f0fdff9ec2
2:44066267 ABCG8 A>G	2	44066267	44066267	A	G	ABCG8	c.63+12A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066267A>G	(Likely) benign	1 lab	f0fe6e8c0f
14:102470972 DYNC1H1 C>T	14	102470972	102470972	C	T	DYNC1H1	c.5001C>T	NM_001376.5	NP_001367.2:p.(Asn1667=)	NC_000014.8:g.102470972C>T	(Likely) benign	1 lab	f10048e8e4
20:25304039 ABHD12 T>A	20	25304039	25304039	T	A	ABHD12	c.344A>T	NM_001042472.3	NP_001035937.1:p.(Lys115Ile)	NC_000020.10:g.25304039T>A	VUS	1 lab	f150a6d07c
5:109536582 MISSING Ref too long to show for this DEL>A	5	109536582	110006431	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.109536583_110006431del	VUS	1 lab	f10228bed2
15:48431360 SLC24A5 G>C	15	48431360	48431360	G	C	SLC24A5	c.1066G>C	NM_205850.3	NP_995322.1:p.(Val356Leu)	NC_000015.9:g.48431360G>C	VUS	1 lab	f10686029f
4:40133465 N4BP2 A>G	4	40133465	40133465	A	G	N4BP2	c.4572A>G	NM_018177.6	NP_060647.2:p.(Leu1524=)	NC_000004.11:g.40133465A>G	(Likely) benign	1 lab	f10798129b
17:79805134 P4HB G>A	17	79805134	79805134	G	A	P4HB	c.714C>T	NM_000918.4	NP_000909.2:p.(Ile238=)	NC_000017.10:g.79805134G>A	(Likely) benign	1 lab	f10c8674a5
3:38748884 SCN10A G>T	3	38748884	38748884	G	T	SCN10A	c.4282-10C>A	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38748884G>T	(Likely) benign	1 lab	f10d9e377f
16:1003938 LMF1 TCCACACAGACACCCACCCCAAACCAGCC>T	16	1003938	1003966	TCCACACAGACACCCACCCCAAACCAGCC	T	LMF1	c.-52+391_-52+418del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003939_1003966del	(Likely) benign	1 lab	f10ef904a7
3:38835479 SCN10A A>G	3	38835479	38835479	A	G	SCN10A	c.23T>C	NM_006514.4	NP_006505.4:p.(Leu8Pro)	NC_000003.11:g.38835479A>G	VUS	1 lab	f1132a1f36
12:21331539 SLCO1B1 T>G	12	21331539	21331539	T	G	SLCO1B1	c.511T>G	NM_006446.5	NP_006437.3:p.(Trp171Gly)	NC_000012.11:g.21331539T>G	(Likely) benign	1 lab	f1161fb3ce
5:127609677 FBN2 A>G	5	127609677	127609677	A	G	FBN2	c.7712-17T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127609677A>G	(Likely) benign	1 lab	f116210662
X:153296205 MECP2 GGCGCTGCTGCTGCGCC>G	X	153296205	153296221	GGCGCTGCTGCTGCGCC	G	MECP2	c.1058_1073del	NM_004992.4	NP_004983.1:p.(Gly353AlafsTer51)	NC_000023.10:g.153296206_153296221del	(Likely) pathogenic	1 lab	f1172884b5
2:179510630 TTN G>T	2	179510630	179510630	G	T	TTN	c.40408+17C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179510630G>T	(Likely) benign	1 lab	f1178f0282
2:179629026 TTN G>A	2	179629026	179629026	G	A	TTN	c.9992C>T	NM_001267550.2	NP_001254479.2:p.(Pro3331Leu)	NC_000002.11:g.179629026G>A	VUS	1 lab	f11aa3d930
2:179400344 TTN G>C	2	179400344	179400344	G	C	TTN	c.100998C>G	NM_001267550.2	NP_001254479.2:p.(Phe33666Leu)	NC_000002.11:g.179400344G>C	VUS	1 lab	f11c7387ec
1:241375665 RGS7 A>Alt too long to show for this DUP	1	241375665	241435000	A	Alt too long to show for this DUP	RGS7	c.78+83999_79-113604dup	NM_001364886.1	NP_001351815.1:p.?	NC_000001.10:g.241375666_241435000dup	VUS	1 lab	f11f2864ed
X:85236824 CHM T>TAA	X	85236824	85236840	T	TAA	CHM	c.117-13_117-12dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236839_85236840dup	(Likely) benign	1 lab	f11fb59f8f
7:72691241 MISSING Ref too long to show for this DEL>A	7	72691241	74141493	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72691242_74141493del	(Likely) pathogenic	1 lab	f12244ce8f
14:79995882 NRXN3 A>Alt too long to show for this DUP	14	79995882	80061158	A	Alt too long to show for this DUP	NRXN3	c.3444+62139_3445-68963dup	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79995884_80061158dup	VUS	1 lab	f125296046
7:150644066 KCNH2 C>T	7	150644066	150644066	C	T	KCNH2	c.3229G>A	NM_000238.4	NP_000229.1:p.(Ala1077Thr)	NC_000007.13:g.150644066C>T	VUS	1 lab	f1284b262a
9:116042827 MISSING A>Alt too long to show for this DUP	9	116042827	116195200	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.116042828_116195200dup	VUS	1 lab	f12aeb32ff
6:79787399 PHIP G>C	6	79787399	79787399	G	C	PHIP	c.129+18C>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79787399G>C	(Likely) benign	1 lab	f12aebfae7
X:153649136 TAFAZZIN G>A	X	153649136	153649136	G	A	TAFAZZIN	c.777+62G>A	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153649136G>A	(Likely) benign	1 lab	f12cfa4d11
12:12871876 CDKN1B C>A	12	12871876	12871876	C	A	CDKN1B	c.593C>A	NM_004064.5	NP_004055.1:p.(Thr198Lys)	NC_000012.11:g.12871876C>A	VUS	1 lab	f12de8adaa
19:11238756 LDLR C>G	19	11238756	11238756	C	G	LDLR	c.2384C>G	NM_000527.5	NP_000518.1:p.(Pro795Arg)	NC_000019.9:g.11238756C>G	(Likely) pathogenic	1 lab	f12f8a9863
1:161277088 MPZ G>A	1	161277088	161277088	G	A	MPZ	c.194C>T	NM_000530.8	NP_000521.2:p.(Thr65Ile)	NC_000001.10:g.161277088G>A	(Likely) pathogenic	1 lab	f130d0a6aa
8:100443877 VPS13B G>A	8	100443877	100443877	G	A	VPS13B	c.3195G>A	NM_017890.5	NP_060360.3:p.(Lys1065=)	NC_000008.10:g.100443877G>A	(Likely) benign	1 lab	f131911ec0
15:48786439 FBN1 C>T	15	48786439	48786439	C	T	FBN1	c.2690G>A	NM_000138.5	NP_000129.3:p.(Gly897Asp)	NC_000015.9:g.48786439C>T	VUS	1 lab	f13192c6b5
11:68216325 LRP5 C>T	11	68216325	68216325	C	T	LRP5	c.4635C>T	NM_002335.4	NP_002326.2:p.(Thr1545=)	NC_000011.9:g.68216325C>T	(Likely) benign	1 lab	f132ce41d8
12:125292291 SCARB1 A>G	12	125292291	125292291	A	G	SCARB1	c.1009+16T>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125292291A>G	(Likely) benign	1 lab	f1397b2a7e
X:36366831 MISSING G>Alt too long to show for this DUP	X	36366831	36426387	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.36366834_36426387dup	VUS	1 lab	f13d7f83b9
7:94051274 COL1A2 T>C	7	94051274	94051274	T	C	COL1A2	c.2403+10T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94051274T>C	(Likely) benign	1 lab	f140e4e697
16:88494800 ZNF469 C>T	16	88494800	88494800	C	T	ZNF469	c.922C>T	NM_001367624.2	NP_001354553.1:p.(Gln308Ter)	NC_000016.9:g.88494800C>T	(Likely) pathogenic	1 lab	f141ff520e
1:55523984 PCSK9 C>T	1	55523984	55523984	C	T	PCSK9	c.1354+102C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523984C>T	(Likely) benign	1 lab	f14264c400
1:66036178 LEPR G>A	1	66036178	66036178	G	A	LEPR	c.63G>A	NM_002303.6	NP_002294.2:p.(Ala21=)	NC_000001.10:g.66036178G>A	(Likely) benign	1 lab	f142ad80ff
5:133948367 SAR1B AAAAAG>A	5	133948367	133948374	AAAAAG	A	SAR1B	c.244+9_244+13del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948370_133948374del	(Likely) benign	1 lab	f1439f60c0
5:90086932 ADGRV1 A>G	5	90086932	90086932	A	G	ADGRV1	c.14286A>G	NM_032119.4	NP_115495.3:p.(Gly4762=)	NC_000005.9:g.90086932A>G	(Likely) benign	1 lab	f146085dbe
1:55521352 PCSK9 C>T	1	55521352	55521352	C	T	PCSK9	c.800-314C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521352C>T	(Likely) benign	1 lab	f14935b29f
17:39923844 JUP G>C	17	39923844	39923844	G	C	JUP	c.708-12C>G	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39923844G>C	VUS	1 lab	f14ab976e2
2:179587661 TTN G>A	2	179587661	179587661	G	A	TTN	c.21965C>T	NM_001267550.2	NP_001254479.2:p.(Pro7322Leu)	NC_000002.11:g.179587661G>A	VUS	1 lab	f14c11dc4d
1:2922756 MISSING A>Alt too long to show for this DUP	1	2922756	3243732	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.2922758_3243732dup	VUS	1 lab	f15003dfac
16:57007350 CETP C>A	16	57007350	57007350	C	A	CETP	c.858C>A	NM_000078.3	NP_000069.2:p.(Val286=)	NC_000016.9:g.57007350C>A	(Likely) benign	1 lab	f15245724a
2:202626434 ALS2 T>G	2	202626434	202626434	T	G	ALS2	c.283A>C	NM_020919.4	NP_065970.2:p.(Thr95Pro)	NC_000002.11:g.202626434T>G	(Likely) benign	1 lab	f1527c798a
19:39056058 RYR1 C>T	19	39056058	39056058	C	T	RYR1	c.13084C>T	NM_000540.3	NP_000531.2:p.(Leu4362=)	NC_000019.9:g.39056058C>T	(Likely) benign	1 lab	f155c97395
2:44071658 ABCG8 A>G	2	44071658	44071658	A	G	ABCG8	c.76A>G	NM_022437.3	NP_071882.1:p.(Arg26Gly)	NC_000002.11:g.44071658A>G	(Likely) benign	1 lab	f156ae1cc9
1:20976759 PINK1 C>T	1	20976759	20976759	C	T	PINK1	c.1489-168C>T	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20976759C>T	(Likely) benign	1 lab	f1588cf485
18:58038864 MC4R T>C	18	58038864	58038864	T	C	MC4R	c.719A>G	NM_005912.3	NP_005903.2:p.(Asn240Ser)	NC_000018.9:g.58038864T>C	(Likely) benign	1 lab	f1592fab38
1:55518091 PCSK9 A>C	1	55518091	55518091	A	C	PCSK9	c.657+7A>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518091A>C	(Likely) benign	1 lab	f159550b78
2:182404005 CERKL C>CAAAT	2	182404005	182404011	C	CAAAT	CERKL	c.1444-18_1444-15dup	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182404008_182404011dup	(Likely) benign	1 lab	f15ee4e86e
15:83735655 BTBD1 G>A	15	83735655	83735655	G	A	BTBD1	c.249C>T	NM_025238.4	NP_079514.1:p.(Ala83=)	NC_000015.9:g.83735655G>A	(Likely) benign	1 lab	f162256c6e
1:235596244 TBCE TA>T	1	235596244	235596256	TA	T	TBCE	c.661-5del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235596256del	(Likely) benign	1 lab	f1660f82fe
19:54296332 MISSING G>Alt too long to show for this DUP	19	54296332	54344823	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.54296334_54344823dup	VUS	1 lab	f16edb5965
11:108164151 ATM C>T	11	108164151	108164151	C	T	ATM	c.4723C>T	NM_000051.4	NP_000042.3:p.(Arg1575Cys)	NC_000011.9:g.108164151C>T	VUS	1 lab	f17203d3fd
X:2405259 MISSING T>Alt too long to show for this DUP	X	2405259	2457951	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2405262_2457951dup	VUS	1 lab	f172c5628e
12:59271245 LRIG3 C>T	12	59271245	59271245	C	T	LRIG3	c.2473G>A	NM_153377.5	NP_700356.2:p.(Val825Met)	NC_000012.11:g.59271245C>T	VUS	1 lab	f1732d16c3
2:44517455 SLC3A1 A>Alt too long to show for this DUP	2	44517455	44545592	A	Alt too long to show for this DUP	SLC3A1	c.891+4160_1618-1746dup	NM_000341.4	NP_000332.2:p.?	NC_000002.11:g.44517456_44545592dup	VUS	1 lab	f17464b540
18:6958538 LAMA1 C>T	18	6958538	6958538	C	T	LAMA1	c.7902G>A	NM_005559.4	NP_005550.2:p.(Thr2634=)	NC_000018.9:g.6958538C>T	(Likely) benign	1 lab	f1771d5c43
15:45400272 DUOX2 C>T	15	45400272	45400272	C	T	DUOX2	c.1547G>A	NM_001363711.2	NP_001350640.1:p.(Arg516His)	NC_000015.9:g.45400272C>T	VUS	1 lab	f177a52f34
8:77896042 PEX2 G>T	8	77896042	77896042	G	T	PEX2	c.373C>A	NM_001172086.2	NP_001165557.2:p.(Arg125=)	NC_000008.10:g.77896042G>T	(Likely) benign	1 lab	f1788e4739
3:50368997 RASSF1 G>A	3	50368997	50368997	G	A	RASSF1	c.753C>T	NM_007182.5	NP_009113.3:p.(His251=)	NC_000003.11:g.50368997G>A	(Likely) benign	1 lab	f17a147101
17:29562787 NF1 C>T	17	29562787	29562787	C	T	NF1	c.3867C>T	NM_001042492.3	NP_001035957.1:p.(Phe1289=)	NC_000017.10:g.29562787C>T	(Likely) benign	1 lab	f17a9135e4
3:75787244 ZNF717 A>G	3	75787244	75787244	A	G	ZNF717	c.1530T>C	NM_001128223.3	NP_001121695.1:p.(Asn510=)	NC_000003.11:g.75787244A>G	(Likely) benign	1 lab	f17afed8fd
11:61724438 BEST1 C>T	11	61724438	61724438	C	T	BEST1	c.424C>T	NM_001139443.2	NP_001132915.1:p.(Arg142Trp)	NC_000011.9:g.61724438C>T	(Likely) pathogenic	1 lab	f17bb4e2fd
22:46929702 CELSR1 G>C	22	46929702	46929702	G	C	CELSR1	c.3366C>G	NM_001378328.1	NP_001365257.1:p.(Gly1122=)	NC_000022.10:g.46929702G>C	(Likely) benign	1 lab	f17f3d0e70
7:28161032 MISSING Ref too long to show for this DEL>G	7	28161032	32410643	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.28161034_32410643del	(Likely) pathogenic	1 lab	f182619a35
12:50497828 GPD1 G>A	12	50497828	50497828	G	A	GPD1	c.-6G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50497828G>A	(Likely) benign	1 lab	f182ff09e0
15:85384148 ALPK3 C>G	15	85384148	85384148	C	G	ALPK3	c.1638C>G	NM_020778.5	NP_065829.4:p.(His546Gln)	NC_000015.9:g.85384148C>G	VUS	1 lab	f183d15fc1
12:112036831 ATXN2 A>G	12	112036831	112036831	A	G	ATXN2	c.8T>C	NM_002973.4	NP_002964.4:p.(Leu3Pro)	NC_000012.11:g.112036831A>G	(Likely) benign	1 lab	f18799a3c7
15:31324905 TRPM1 A>G	15	31324905	31324905	A	G	TRPM1	c.2990T>C	NM_001252020.2	NP_001238949.1:p.(Met997Thr)	NC_000015.9:g.31324905A>G	(Likely) benign	1 lab	f18a759288
6:56392413 DST G>A	6	56392413	56392413	G	A	DST	c.11443C>T	NM_001144769.5	NP_001138241.1:p.(Arg3815Trp)	NC_000006.11:g.56392413G>A	VUS	1 lab	f18b65d599
2:44051166 ABCG5 C>T	2	44051166	44051166	C	T	ABCG5	c.1210G>A	NM_022436.3	NP_071881.1:p.(Val404Ile)	NC_000002.11:g.44051166C>T	VUS	1 lab	f18d9bef2c
1:63070367 ANGPTL3 G>C	1	63070367	63070367	G	C	ANGPTL3	c.1262G>C	NM_014495.4	NP_055310.1:p.(Arg421Thr)	NC_000001.10:g.63070367G>C	VUS	1 lab	f18ed8fc77
14:76432106 TGFB3 T>C	14	76432106	76432106	T	C	TGFB3	c.647-68A>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76432106T>C	(Likely) benign	1 lab	f193ab8fe6
11:1017008 MUC6 G>T	11	1017008	1017008	G	T	MUC6	c.5793C>A	NM_005961.3	NP_005952.2:p.(Thr1931=)	NC_000011.9:g.1017008G>T	(Likely) benign	1 lab	f193d580ab
Y:2848049 MISSING G>Alt too long to show for this DUP	Y	2848049	2878761	G	Alt too long to show for this DUP	MISSING				NC_000024.9:g.2848050_2878761dup	VUS	1 lab	f197154320
1:16918457 NBPF1 G>C	1	16918457	16918457	G	C	NBPF1	c.60C>G	NM_017940.6	NP_060410.3:p.(Ile20Met)	NC_000001.10:g.16918457G>C	(Likely) benign	1 lab	f197e3def8
9:91954848 SECISBP2 C>G	9	91954848	91954848	C	G	SECISBP2	c.1078C>G	NM_001282690.1	NP_001269619.1:p.(Gln360Glu)	NC_000009.11:g.91954848C>G	(Likely) benign	1 lab	f1984bb0ef
12:49440083 KMT2D C>A	12	49440083	49440083	C	A	KMT2D	c.4543G>T	NM_003482.4	NP_003473.3:p.(Val1515Leu)	NC_000012.11:g.49440083C>A	VUS	1 lab	f19a4ee076
X:151706571 MISSING A>Alt too long to show for this DUP	X	151706571	151859631	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151706572_151859631dup	VUS	1 lab	f19d5d2d3c
2:73828318 ALMS1 G>A	2	73828318	73828318	G	A	ALMS1	c.11876-4G>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73828318G>A	(Likely) benign	1 lab	f19da3f23e
14:60976650 SIX6 C>A	14	60976650	60976650	C	A	SIX6	c.534C>A	NM_007374.3	NP_031400.2:p.(Asn178Lys)	NC_000014.8:g.60976650C>A	VUS	1 lab	f1c9601fee
2:179412936 TTN G>A	2	179412936	179412936	G	A	TTN	c.93417C>T	NM_001267550.2	NP_001254479.2:p.(His31139=)	NC_000002.11:g.179412936G>A	(Likely) benign	1 lab	f1a3d38ed9
14:105173885 INF2 A>C	14	105173885	105173885	A	C	INF2	c.1281A>C	NM_001031714.4	NP_001026884.3:p.(Pro427=)	NC_000014.8:g.105173885A>C	(Likely) benign	1 lab	f1a68e3a6c
2:47387949 CALM2 AAAG>A	2	47387949	47387958	AAAG	A	CALM2	c.314-9_314-7del	NM_001305626.1	NP_001292555.1:p.?	NC_000002.11:g.47387956_47387958del	(Likely) benign	1 lab	f1a918182f
2:21252559 APOB G>A	2	21252559	21252559	G	A	APOB	c.1569C>T	NM_000384.3	NP_000375.3:p.(Ile523=)	NC_000002.11:g.21252559G>A	(Likely) benign	1 lab	f1acf3c548
2:179306397 PRKRA A>G	2	179306397	179306397	A	G	PRKRA	c.516T>C	NM_001139517.1	NP_001132989.1:p.(Asn172=)	NC_000002.11:g.179306397A>G	(Likely) benign	1 lab	f1ad062cf0
16:1005094 LMF1 C>T	16	1005094	1005094	C	T	LMF1	c.-361-428G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005094C>T	(Likely) benign	1 lab	f1b0e86751
2:137653383 THSD7B G>Alt too long to show for this DUP	2	137653383	137776834	G	Alt too long to show for this DUP	THSD7B	c.139+13498_140-37156dup	NM_001316349.2	NP_001303278.1:p.?	NC_000002.11:g.137653385_137776834dup	VUS	1 lab	f1b22b9f12
7:94910632 PPP1R9A Ref too long to show for this DEL>A	7	94910632	94923232	Ref too long to show for this DEL	A	PPP1R9A	c.3297-2697_*3617del	NM_001166160.2	NP_001159632.1:p.?	NC_000007.13:g.94910633_94923232del	VUS	1 lab	f1b3cc3558
15:83332334 AP3B2 G>A	15	83332334	83332334	G	A	AP3B2	c.2475C>T	NM_001278512.2	NP_001265441.1:p.(Ile825=)	NC_000015.9:g.83332334G>A	(Likely) benign	1 lab	f1b62dd82d
1:34102141 CSMD2 C>T	1	34102141	34102141	C	T	CSMD2	c.4788G>A	NM_001281956.2	NP_001268885.1:p.(Glu1596=)	NC_000001.10:g.34102141C>T	(Likely) benign	1 lab	f1b6728475
9:139404098 NOTCH1 C>T	9	139404098	139404098	C	T	NOTCH1	c.2969+87G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139404098C>T	(Likely) benign	1 lab	f1b91b039c
21:47423598 COL6A1 C>T	21	47423598	47423598	C	T	COL6A1	c.2758C>T	NM_001848.3	NP_001839.2:p.(Leu920=)	NC_000021.8:g.47423598C>T	(Likely) benign	1 lab	f1bbde06a7
10:69918333 MYPN A>G	10	69918333	69918333	A	G	MYPN	c.1408A>G	NM_032578.4	NP_115967.2:p.(Arg470Gly)	NC_000010.10:g.69918333A>G	VUS	1 lab	f1bc0b4579
7:150648546 KCNH2 C>CA	7	150648546	150648547	C	CA	KCNH2	c.1934dup	NM_000238.4	NP_000229.1:p.(Met645IlefsTer10)	NC_000007.13:g.150648547dup	(Likely) pathogenic	1 lab	f1bd2d9918
6:10791979 MAK G>A	6	10791979	10791979	G	A	MAK	c.1245C>T	NM_001242957.3	NP_001229886.1:p.(Phe415=)	NC_000006.11:g.10791979G>A	(Likely) benign	1 lab	f1c0224acf
15:89833559 FANCI C>T	15	89833559	89833559	C	T	FANCI	c.1890+47C>T	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89833559C>T	(Likely) benign	1 lab	f1c192aa00
19:11227932 LDLR AGGCTC>A	19	11227932	11227937	AGGCTC	A	LDLR	c.1845+259_1845+263del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227933_11227937del	(Likely) benign	1 lab	f1ce13e460
4:100515774 MTTP A>G	4	100515774	100515774	A	G	MTTP	c.759-116A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100515774A>G	(Likely) benign	1 lab	f1cf766b06
10:68040337 CTNNA3 G>T	10	68040337	68040337	G	T	CTNNA3	c.1775C>A	NM_013266.4	NP_037398.2:p.(Ala592Asp)	NC_000010.10:g.68040337G>T	VUS	1 lab	f1d161a042
10:18827306 CACNB2 T>TTTTATATATATCTATATATAC	10	18827306	18827327	T	TTTTATATATATCTATATATAC	CACNB2	c.1323+13_1323+33dup	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18827307_18827327dup	(Likely) benign	1 lab	f1d5f591ea
17:12798232 MISSING A>Alt too long to show for this DUP	17	12798232	12958958	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.12798233_12958958dup	VUS	1 lab	f1d636a4ec
9:130263418 LRSAM1 G>A	9	130263418	130263418	G	A	LRSAM1	c.2042G>A	NM_001384142.1	NP_001371071.1:p.(Arg681Gln)	NC_000009.11:g.130263418G>A	VUS	1 lab	f1dac2ea2f
18:28672244 DSC2 A>G	18	28672244	28672244	A	G	DSC2	c.174T>C	NM_024422.6	NP_077740.1:p.(Phe58=)	NC_000018.9:g.28672244A>G	(Likely) benign	1 lab	f1dfcfb509
19:11216568 LDLR G>T	19	11216568	11216568	G	T	LDLR	c.694+292G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216568G>T	(Likely) benign	1 lab	f1e4a722f7
2:21228580 APOB G>A	2	21228580	21228580	G	A	APOB	c.11160C>T	NM_000384.3	NP_000375.3:p.(Ser3720=)	NC_000002.11:g.21228580G>A	(Likely) benign	1 lab	f1e7916989
11:121475837 SORL1 A>G	11	121475837	121475837	A	G	SORL1	c.4667A>G	NM_003105.6	NP_003096.2:p.(Tyr1556Cys)	NC_000011.9:g.121475837A>G	VUS	1 lab	f1eb61d821
2:189849631 COL3A1 C>A	2	189849631	189849631	C	A	COL3A1	c.225C>A	NM_000090.4	NP_000081.2:p.(Pro75=)	NC_000002.11:g.189849631C>A	(Likely) benign	1 lab	f1f6d66281
18:52949191 TCF4 Ref too long to show for this DEL>T	18	52949191	53167758	Ref too long to show for this DEL	T	TCF4	c.146-36389_550-2305del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52949193_53167758del	(Likely) pathogenic	1 lab	f1f90931f6
7:128498749 FLNC A>G	7	128498749	128498749	A	G	FLNC	c.*172A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498749A>G	(Likely) benign	1 lab	f1f9d8efc5
20:57485830 GNAS C>T	20	57485830	57485830	C	T	GNAS	c.3060C>T	NM_080425.4	NP_536350.2:p.(Asn1020=)	NC_000020.10:g.57485830C>T	(Likely) benign	1 lab	f1fab68ffe
2:21233125 APOB G>T	2	21233125	21233125	G	T	APOB	c.6615C>A	NM_000384.3	NP_000375.3:p.(Ile2205=)	NC_000002.11:g.21233125G>T	(Likely) benign	1 lab	f1fd8a1ca8
15:75183011 MPI T>A	15	75183011	75183011	T	A	MPI	c.144+16T>A	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75183011T>A	(Likely) benign	1 lab	f1fee6c6d3
12:51635921 MISSING Ref too long to show for this DEL>C	12	51635921	51727618	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.51635922_51727618del	(Likely) pathogenic	1 lab	f200ee6409
11:4475698 MISSING T>Alt too long to show for this DUP	11	4475698	4515062	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.4475700_4515062dup	VUS	1 lab	f2035fc05d
16:3639093 SLX4 C>G	16	3639093	3639093	C	G	SLX4	c.4546G>C	NM_032444.4	NP_115820.2:p.(Gly1516Arg)	NC_000016.9:g.3639093C>G	VUS	1 lab	f204ec5241
16:921355 LMF1 G>C	16	921355	921355	G	C	LMF1	c.898-14C>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921355G>C	VUS	1 lab	f24f5ccbd7
2:238443257 MLPH C>T	2	238443257	238443257	C	T	MLPH	c.1071C>T	NM_024101.7	NP_077006.1:p.(Tyr357=)	NC_000002.11:g.238443257C>T	(Likely) benign	1 lab	f204f5697d
12:11461745 PRB4 G>C	12	11461745	11461745	G	C	PRB4	c.172C>G	NM_002723.6	NP_002714.2:p.(Gln58Glu)	NC_000012.11:g.11461745G>C	(Likely) benign	1 lab	f20947ad2e
15:58860949 LIPC C>G	15	58860949	58860949	C	G	LIPC	c.1423C>G	NM_000236.3	NP_000227.2:p.(Leu475Val)	NC_000015.9:g.58860949C>G	(Likely) benign	1 lab	f209901282
16:46763487 MYLK3 G>A	16	46763487	46763487	G	A	MYLK3	c.1662+19C>T	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46763487G>A	VUS	1 lab	f20aff4476
2:149079153 MBD5 Ref too long to show for this DEL>A	2	149079153	149126160	Ref too long to show for this DEL	A	MBD5	c.-679-20629_-557+26255del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149079154_149126160del	VUS	1 lab	f20c989aa9
2:21256489 APOB A>T	2	21256489	21256489	A	T	APOB	c.905-99T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21256489A>T	(Likely) benign	1 lab	f20f42a12d
16:88498840 ZNF469 T>TG	16	88498840	88498846	T	TG	ZNF469	c.4968dup	NM_001367624.2	NP_001354553.1:p.(Thr1657AspfsTer68)	NC_000016.9:g.88498846dup	(Likely) pathogenic	1 lab	f211b0ff03
19:36212109 KMT2B T>C	19	36212109	36212109	T	C	KMT2B	c.1860T>C	NM_014727.3	NP_055542.1:p.(Pro620=)	NC_000019.9:g.36212109T>C	(Likely) benign	1 lab	f2150f266d
1:74954952 FPGT-TNNI3K A>C	1	74954952	74954952	A	C	FPGT-TNNI3K	c.2484+20A>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74954952A>C	(Likely) benign	1 lab	f217e0798c
2:153476078 FMNL2 A>C	2	153476078	153476078	A	C	FMNL2	c.1683A>C	NM_052905.4	NP_443137.2:p.(Pro561=)	NC_000002.11:g.153476078A>C	(Likely) benign	1 lab	f21938b950
2:112704965 MERTK C>T	2	112704965	112704965	C	T	MERTK	c.584-6C>T	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112704965C>T	(Likely) benign	1 lab	f2196f07eb
15:54819143 MISSING A>Alt too long to show for this DUP	15	54819143	54951892	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.54819145_54951892dup	VUS	1 lab	f21c0393c1
16:70197752 MISSING A>Alt too long to show for this DUP	16	70197752	70398721	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70197753_70398721dup	VUS	1 lab	f21c68ffcc
16:29597822 MISSING C>Alt too long to show for this DUP	16	29597822	30177242	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29597825_30177242dup	(Likely) pathogenic	1 lab	f222687b35
6:65301202 EYS CT>C	6	65301202	65301206	CT	C	EYS	c.4557del	NM_001292009.2	NP_001278938.1:p.(Ala1520ProfsTer30)	NC_000006.11:g.65301206del	(Likely) pathogenic	1 lab	f223439079
6:99885102 USP45 ATAAACT>A	6	99885102	99885110	ATAAACT	A	USP45	c.1234+14_1234+19del	NM_001346029.3	NP_001332958.1:p.?	NC_000006.11:g.99885105_99885110del	(Likely) benign	1 lab	f223644318
11:8122144 TUB G>A	11	8122144	8122144	G	A	TUB	c.1376G>A	NM_003320.5	NP_003311.2:p.(Arg459His)	NC_000011.9:g.8122144G>A	(Likely) benign	1 lab	f224a60557
19:11211009 LDLR C>T	19	11211009	11211009	C	T	LDLR	c.178C>T	NM_000527.5	NP_000518.1:p.(Gln60Ter)	NC_000019.9:g.11211009C>T	(Likely) pathogenic	1 lab	f226401dfc
2:21230962 APOB T>C	2	21230962	21230962	T	C	APOB	c.8778A>G	NM_000384.3	NP_000375.3:p.(Lys2926=)	NC_000002.11:g.21230962T>C	(Likely) benign	1 lab	f22a6d27a4
15:85400166 ALPK3 G>A	15	85400166	85400166	G	A	ALPK3	c.2197G>A	NM_020778.5	NP_065829.4:p.(Gly733Ser)	NC_000015.9:g.85400166G>A	VUS	1 lab	f22ca3113f
2:25061488 ADCY3 G>A	2	25061488	25061488	G	A	ADCY3	c.1359C>T	NM_001320613.2	NP_001307542.1:p.(Arg453=)	NC_000002.11:g.25061488G>A	(Likely) benign	1 lab	f22d0e51db
19:11223946 LDLR AC>A	19	11223946	11223951	AC	A	LDLR	c.1187-3del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223951del	VUS	1 lab	f2324c0f9e
11:17417402 ABCC8 C>T	11	17417402	17417402	C	T	ABCC8	c.4261G>A	NM_001351295.2	NP_001338224.1:p.(Glu1421Lys)	NC_000011.9:g.17417402C>T	VUS	1 lab	f232a2944c
2:44078833 ABCG8 A>G	2	44078833	44078833	A	G	ABCG8	c.433A>G	NM_022437.3	NP_071882.1:p.(Arg145Gly)	NC_000002.11:g.44078833A>G	VUS	1 lab	f233aaa7e9
15:34544435 SLC12A6 G>A	15	34544435	34544435	G	A	SLC12A6	c.1269C>T	NM_001365088.1	NP_001352017.1:p.(Tyr423=)	NC_000015.9:g.34544435G>A	(Likely) benign	1 lab	f23422b02e
9:137671711 COL5A1 G>A	9	137671711	137671711	G	A	COL5A1	c.2386-237G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137671711G>A	(Likely) benign	1 lab	f234d54653
15:85406795 ALPK3 C>T	15	85406795	85406795	C	T	ALPK3	c.4423C>T	NM_020778.5	NP_065829.4:p.(Gln1475Ter)	NC_000015.9:g.85406795C>T	(Likely) pathogenic	1 lab	f235c11768
5:904345 TRIP13 G>A	5	904345	904345	G	A	TRIP13	c.608+10G>A	NM_004237.4	NP_004228.1:p.?	NC_000005.9:g.904345G>A	(Likely) benign	1 lab	f2363e6b63
7:5919946 MISSING Ref too long to show for this DEL>C	7	5919946	6012964	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.5919947_6012964del	VUS	1 lab	f23738fcac
15:80460586 FAH T>G	15	80460586	80460586	T	G	FAH	c.554-20T>G	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80460586T>G	(Likely) benign	1 lab	f238780dcc
2:189862917 COL3A1 CAT>C	2	189862917	189862919	CAT	C	COL3A1	c.1924-74_1924-73del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862918_189862919del	(Likely) benign	1 lab	f23b07dc21
2:73646234 ALMS1 C>CT	2	73646234	73646237	C	CT	ALMS1	c.454-14dup	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73646237dup	(Likely) benign	1 lab	f23c86c58a
10:90700995 ACTA2 C>G	10	90700995	90700995	C	G	ACTA2	c.607G>C	NM_001141945.2	NP_001135417.1:p.(Val203Leu)	NC_000010.10:g.90700995C>G	VUS	1 lab	f23eb9e753
2:21231514 APOB C>A	2	21231514	21231514	C	A	APOB	c.8226G>T	NM_000384.3	NP_000375.3:p.(Gln2742His)	NC_000002.11:g.21231514C>A	(Likely) benign	1 lab	f24360292b
2:220502900 SLC4A3 C>A	2	220502900	220502900	C	A	SLC4A3	c.2862C>A	NM_001326559.2	NP_001313488.2:p.(Ile954=)	NC_000002.11:g.220502900C>A	VUS	1 lab	f249357c87
15:58837933 LIPC C>A	15	58837933	58837933	C	A	LIPC	c.575-8C>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837933C>A	(Likely) benign	1 lab	f2498f9f2f
11:67763832 MISSING C>Alt too long to show for this DUP	11	67763832	67807624	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.67763836_67807624dup	VUS	1 lab	f249a6d6a7
15:58108225 MISSING Ref too long to show for this DEL>C	15	58108225	62696829	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.58108226_62696829del	(Likely) pathogenic	1 lab	f24c1ae666
9:107584794 ABCA1 C>G	9	107584794	107584794	C	G	ABCA1	c.2811G>C	NM_005502.4	NP_005493.2:p.(Ala937=)	NC_000009.11:g.107584794C>G	(Likely) benign	1 lab	f24c8ad7af
7:140434597 BRAF GAAA>G	7	140434597	140434606	GAAA	G	BRAF	c.2128-30_2128-28del	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434604_140434606del	(Likely) benign	1 lab	f24cd2ef1e
18:19345801 MIB1 T>G	18	19345801	19345801	T	G	MIB1	c.298T>G	NM_020774.4	NP_065825.1:p.(Cys100Gly)	NC_000018.9:g.19345801T>G	VUS	1 lab	f24d66ab4b
12:111351978 MYL2 A>ACG	12	111351978	111351980	A	ACG	MYL2	c.274+11_274+12insCG	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351979_111351980insGC	(Likely) benign	1 lab	f24ed84337
5:37168931 CPLANE1 A>G	5	37168931	37168931	A	G	CPLANE1	c.7195T>C	NM_023073.4	NP_075561.3:p.(Leu2399=)	NC_000005.9:g.37168931A>G	(Likely) benign	1 lab	f24fb6348e
X:108867955 KCNE5 CG>C	X	108867955	108867956	CG	C	KCNE5	c.294del	NM_012282.4	NP_036414.1:p.(Cys98TrpfsTer12)	NC_000023.10:g.108867956del	VUS	1 lab	f251df2cf4
19:15289746 NOTCH3 C>T	19	15289746	15289746	C	T	NOTCH3	c.3725G>A	NM_000435.3	NP_000426.2:p.(Arg1242His)	NC_000019.9:g.15289746C>T	(Likely) benign	1 lab	f2528b9ec4
4:153332658 FBXW7 C>A	4	153332658	153332658	C	A	FBXW7	c.298G>T	NM_001349798.2	NP_001336727.1:p.(Glu100Ter)	NC_000004.11:g.153332658C>A	VUS	1 lab	f254ea8c34
21:38309268 HLCS T>C	21	38309268	38309268	T	C	HLCS	c.477A>G	NM_001242784.3	NP_001229713.1:p.(Gly159=)	NC_000021.8:g.38309268T>C	(Likely) benign	1 lab	f2554abcb2
6:116752157 DSE G>C	6	116752157	116752157	G	C	DSE	c.711G>C	NM_013352.4	NP_037484.1:p.(Leu237=)	NC_000006.11:g.116752157G>C	(Likely) benign	1 lab	f25e2ef31d
19:11239701 LDLR C>CA	19	11239701	11239714	C	CA	LDLR	c.2390-475dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239714dup	(Likely) benign	1 lab	f25f673b19
18:6943175 LAMA1 A>G	18	6943175	6943175	A	G	LAMA1	c.9067+4T>C	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6943175A>G	(Likely) benign	1 lab	f32f90e198
2:21245367 APOB A>G	2	21245367	21245367	A	G	APOB	c.2816+336T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21245367A>G	(Likely) benign	1 lab	f2685d1187
4:15534833 CC2D2A G>A	4	15534833	15534833	G	A	CC2D2A	c.1484G>A	NM_001080522.2	NP_001073991.2:p.(Arg495His)	NC_000004.11:g.15534833G>A	(Likely) benign	1 lab	f26d037763
5:148421128 SH3TC2 T>A	5	148421128	148421128	T	A	SH3TC2	c.582A>T	NM_024577.4	NP_078853.2:p.(Glu194Asp)	NC_000005.9:g.148421128T>A	VUS	1 lab	f26d37d6f7
15:73660159 HCN4 C>T	15	73660159	73660159	C	T	HCN4	c.453G>A	NM_005477.3	NP_005468.1:p.(Glu151=)	NC_000015.9:g.73660159C>T	(Likely) benign	1 lab	f26f5e5da4
2:179664567 TTN T>C	2	179664567	179664567	T	C	TTN	c.654A>G	NM_001267550.2	NP_001254479.2:p.(Gln218=)	NC_000002.11:g.179664567T>C	(Likely) benign	1 lab	f270f847c4
2:220500053 SLC4A3 G>A	2	220500053	220500053	G	A	SLC4A3	c.1888G>A	NM_201574.3	NP_963868.3:p.(Glu630Lys)	NC_000002.11:g.220500053G>A	VUS	1 lab	f274347f10
10:124266334 HTRA1 G>A	10	124266334	124266334	G	A	HTRA1	c.905G>A	NM_002775.5	NP_002766.1:p.(Arg302Gln)	NC_000010.10:g.124266334G>A	(Likely) pathogenic	1 lab	f2750c6bf2
1:1375185 VWA1 G>C	1	1375185	1375185	G	C	VWA1	c.*18G>C	NM_022834.5	NP_073745.2:p.?	NC_000001.10:g.1375185G>C	(Likely) benign	1 lab	f276d754dc
4:48164941 TEC A>Alt too long to show for this DUP	4	48164941	48199098	A	Alt too long to show for this DUP	TEC	c.139-20894_737+777dup	NM_003215.3	NP_003206.2:p.?	NC_000004.11:g.48164943_48199098dup	VUS	1 lab	f291054184
8:19813804 LPL G>A	8	19813804	19813804	G	A	LPL	c.1018+210G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813804G>A	(Likely) benign	1 lab	f27d03655a
X:100653014 GLA T>C	X	100653014	100653014	T	C	GLA	c.1073A>G	NM_000169.3	NP_000160.1:p.(Glu358Gly)	NC_000023.10:g.100653014T>C	(Likely) pathogenic	1 lab	f27e3343da
15:73660416 HCN4 C>G	15	73660416	73660416	C	G	HCN4	c.196G>C	NM_005477.3	NP_005468.1:p.(Glu66Gln)	NC_000015.9:g.73660416C>G	VUS	1 lab	f28043f0d5
7:55220341 EGFR G>A	7	55220341	55220341	G	A	EGFR	c.731G>A	NM_005228.5	NP_005219.2:p.(Arg244Gln)	NC_000007.13:g.55220341G>A	VUS	1 lab	f288be9073
11:95568581 MTMR2 G>C	11	95568581	95568581	G	C	MTMR2	c.1805C>G	NM_016156.6	NP_057240.3:p.(Ala602Gly)	NC_000011.9:g.95568581G>C	(Likely) pathogenic	1 lab	f28997bce4
12:133220098 POLE CCA>C	12	133220098	133220110	CCA	C	POLE	c.4337_4338del	NM_006231.4	NP_006222.2:p.(Val1446GlyfsTer3)	NC_000012.11:g.133220109_133220110del	VUS	1 lab	f289cd3bab
11:118355652 KMT2A G>T	11	118355652	118355652	G	T	KMT2A	c.4294G>T	NM_001197104.2	NP_001184033.1:p.(Val1432Leu)	NC_000011.9:g.118355652G>T	(Likely) pathogenic	1 lab	f28eca2752
X:49458531 MISSING Ref too long to show for this DEL>G	X	49458531	49470130	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.49458533_49470130del	VUS	1 lab	f28f1488f1
2:179612658 TTN A>T	2	179612658	179612658	A	T	TTN	c.14469T>A	NM_133379.5	NP_596870.2:p.(His4823Gln)	NC_000002.11:g.179612658A>T	VUS	1 lab	f299171da2
2:44041744 ABCG5 A>C	2	44041744	44041744	A	C	ABCG5	c.1650-16T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44041744A>C	(Likely) benign	1 lab	f29c9c8fb9
12:117211536 MISSING Ref too long to show for this DEL>C	12	117211536	117923453	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.117211537_117923453del	(Likely) pathogenic	1 lab	f29d4cbc2e
16:72130884 DHX38 G>T	16	72130884	72130884	G	T	DHX38	c.487G>T	NM_014003.4	NP_054722.2:p.(Asp163Tyr)	NC_000016.9:g.72130884G>T	VUS	1 lab	f2a56cb4b8
11:17436936 ABCC8 A>G	11	17436936	17436936	A	G	ABCC8	c.2259-50T>C	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17436936A>G	(Likely) benign	1 lab	f2ac9065bc
4:3026108 MISSING Ref too long to show for this DEL>G	4	3026108	3051354	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.3026112_3051354del	VUS	1 lab	f2acde542a
20:35590623 MISSING Ref too long to show for this DEL>G	20	35590623	35729668	Ref too long to show for this DEL	G	MISSING				NC_000020.10:g.35590624_35729668del	VUS	1 lab	f2ad1e21aa
16:57007345 CETP C>T	16	57007345	57007345	C	T	CETP	c.853C>T	NM_000078.3	NP_000069.2:p.(Arg285Ter)	NC_000016.9:g.57007345C>T	(Likely) pathogenic	1 lab	f2b1582e9a
2:73675788 ALMS1 C>G	2	73675788	73675788	C	G	ALMS1	c.2137C>G	NM_015120.4	NP_055935.4:p.(Leu713Val)	NC_000002.11:g.73675788C>G	VUS	1 lab	f2b5deb6a0
8:19818416 LPL G>A	8	19818416	19818416	G	A	LPL	c.1144G>A	NM_000237.3	NP_000228.1:p.(Glu382Lys)	NC_000008.10:g.19818416G>A	VUS	1 lab	f2b646d33b
16:75674100 KARS1 T>C	16	75674100	75674100	T	C	KARS1	c.454A>G	NM_001130089.2	NP_001123561.1:p.(Ile152Val)	NC_000016.9:g.75674100T>C	VUS	1 lab	f2bd416414
2:202575797 ALS2 G>T	2	202575797	202575797	G	T	ALS2	c.4039C>A	NM_020919.4	NP_065970.2:p.(Leu1347Ile)	NC_000002.11:g.202575797G>T	VUS	1 lab	f2bf2f2a37
1:158608558 MISSING Ref too long to show for this DEL>G	1	158608558	159079268	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.158608561_159079268del	VUS	1 lab	f2bfdfb621
11:65320254 LTBP3 C>G	11	65320254	65320254	C	G	LTBP3	c.1186+77G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65320254C>G	(Likely) benign	1 lab	f2c4376ac8
14:105176467 INF2 G>A	14	105176467	105176467	G	A	INF2	c.2181G>A	NM_022489.4	NP_071934.3:p.(Ala727=)	NC_000014.8:g.105176467G>A	(Likely) benign	1 lab	f2c7fbe2f6
8:38279385 FGFR1 C>T	8	38279385	38279385	C	T	FGFR1	c.1011G>A	NM_023110.3	NP_075598.2:p.(Gly337=)	NC_000008.10:g.38279385C>T	(Likely) benign	1 lab	f2cabfd109
12:56115030 RDH5 G>A	12	56115030	56115030	G	A	RDH5	c.62G>A	NM_001199771.3	NP_001186700.1:p.(Arg21Gln)	NC_000012.11:g.56115030G>A	(Likely) benign	1 lab	f2cad06e5a
11:121150593 MISSING Ref too long to show for this DEL>T	11	121150593	121167753	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.121150594_121167753del	VUS	1 lab	f2ccc7ab3a
9:79952468 VPS13A A>T	9	79952468	79952468	A	T	VPS13A	c.6261+15A>T	NM_001018037.2	NP_001018047.1:p.?	NC_000009.11:g.79952468A>T	(Likely) benign	1 lab	f2cde845b5
3:98492741 MISSING Ref too long to show for this DEL>A	3	98492741	98627119	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.98492742_98627119del	VUS	1 lab	f2d1e6884c
7:26233175 HNRNPA2B1 G>A	7	26233175	26233175	G	A	HNRNPA2B1	c.877+20C>T	NM_031243.3	NP_112533.1:p.?	NC_000007.13:g.26233175G>A	(Likely) benign	1 lab	f2d1e91841
10:69896342 MYPN C>T	10	69896342	69896342	C	T	MYPN	c.-112-15C>T	NM_001256268.2	NP_001243197.1:p.?	NC_000010.10:g.69896342C>T	(Likely) benign	1 lab	f2d337585a
15:62244117 VPS13C G>A	15	62244117	62244117	G	A	VPS13C	c.4362C>T	NM_001018088.3	NP_001018098.1:p.(Val1454=)	NC_000015.9:g.62244117G>A	(Likely) benign	1 lab	f2d3ee5e46
8:19811768 LPL G>C	8	19811768	19811768	G	C	LPL	c.679G>C	NM_000237.3	NP_000228.1:p.(Val227Leu)	NC_000008.10:g.19811768G>C	VUS	1 lab	f2d590d233
8:19805692 LPL A>AG	8	19805692	19805693	A	AG	LPL	c.90_91insG	NM_000237.3	NP_000228.1:p.(Arg31GlufsTer10)	NC_000008.10:g.19805692_19805693insG	(Likely) pathogenic	1 lab	f2d6c7686a
9:137583110 COL5A1 C>G	9	137583110	137583110	C	G	COL5A1	c.277+185C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137583110C>G	(Likely) benign	1 lab	f2d6feadee
2:179440010 TTN T>C	2	179440010	179440010	T	C	TTN	c.70849A>G	NM_001267550.2	NP_001254479.2:p.(Arg23617Gly)	NC_000002.11:g.179440010T>C	VUS	1 lab	f2d88b32f2
X:85133969 CHM C>T	X	85133969	85133969	C	T	CHM	c.1165+1G>A	NM_001362517.1	NP_001349446.1:p.?	NC_000023.10:g.85133969C>T	(Likely) pathogenic	1 lab	f2d979c788
1:55505708 PCSK9 C>T	1	55505708	55505708	C	T	PCSK9	c.198C>T	NM_174936.4	NP_777596.2:p.(Arg66=)	NC_000001.10:g.55505708C>T	(Likely) benign	1 lab	f2da08a937
12:125271101 SCARB1 A>C	12	125271101	125271101	A	C	SCARB1	c.1255-52T>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125271101A>C	(Likely) benign	1 lab	f2da3264af
19:40903008 PRX C>A	19	40903008	40903008	C	A	PRX	c.1251G>T	NM_181882.3	NP_870998.2:p.(Leu417=)	NC_000019.9:g.40903008C>A	(Likely) benign	1 lab	f2da9e2e17
6:24658797 TDP2 G>C	6	24658797	24658797	G	C	TDP2	c.417C>G	NM_016614.3	NP_057698.2:p.(Tyr139Ter)	NC_000006.11:g.24658797G>C	VUS	1 lab	f2db4b3412
19:11228783 LDLR C>T	19	11228783	11228783	C	T	LDLR	c.1845+1109C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228783C>T	(Likely) benign	1 lab	f2db9681f3
21:16340020 NRIP1 C>T	21	16340020	16340020	C	T	NRIP1	c.494G>A	NM_003489.4	NP_003480.2:p.(Ser165Asn)	NC_000021.8:g.16340020C>T	(Likely) benign	1 lab	f2dc39e6d9
8:38272435 FGFR1 G>A	8	38272435	38272435	G	A	FGFR1	c.1855-16C>T	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38272435G>A	(Likely) benign	1 lab	f2dda142e3
1:74819673 TNNI3K C>A	1	74819673	74819673	C	A	TNNI3K	c.1037C>A	NM_015978.3	NP_057062.1:p.(Ser346Tyr)	NC_000001.10:g.74819673C>A	VUS	1 lab	f2e8a30dfa
5:127623116 FBN2 T>C	5	127623116	127623116	T	C	FBN2	c.6764A>G	NM_001999.4	NP_001990.2:p.(Asn2255Ser)	NC_000005.9:g.127623116T>C	VUS	1 lab	f2ec1e70e2
16:46766212 MYLK3 T>C	16	46766212	46766212	T	C	MYLK3	c.1370A>G	NM_182493.3	NP_872299.2:p.(Glu457Gly)	NC_000016.9:g.46766212T>C	VUS	1 lab	f2ec69f419
9:111663931 ELP1 G>A	9	111663931	111663931	G	A	ELP1	c.1885C>T	NM_003640.5	NP_003631.2:p.(Arg629Cys)	NC_000009.11:g.111663931G>A	VUS	1 lab	f2ec808dea
9:107571771 ABCA1 C>T	9	107571771	107571771	C	T	ABCA1	c.4250G>A	NM_005502.4	NP_005493.2:p.(Arg1417His)	NC_000009.11:g.107571771C>T	VUS	1 lab	f2ecd04fcb
11:68181076 LRP5 C>T	11	68181076	68181076	C	T	LRP5	c.2504-81C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68181076C>T	(Likely) benign	1 lab	f2ed42a303
11:9853837 SBF2 G>A	11	9853837	9853837	G	A	SBF2	c.3586C>T	NM_030962.4	NP_112224.1:p.(Arg1196Ter)	NC_000011.9:g.9853837G>A	(Likely) pathogenic	1 lab	f2f155c0e4
15:58830656 LIPC G>A	15	58830656	58830656	G	A	LIPC	c.213G>A	NM_000236.3	NP_000227.2:p.(Thr71=)	NC_000015.9:g.58830656G>A	(Likely) benign	1 lab	f2f2bfbe98
8:19797010 LPL C>T	8	19797010	19797010	C	T	LPL	c.59C>T	NM_000237.3	NP_000228.1:p.(Ala20Val)	NC_000008.10:g.19797010C>T	VUS	1 lab	f375b55740
1:25893365 LDLRAP1 A>G	1	25893365	25893365	A	G	LDLRAP1	c.809A>G	NM_015627.3	NP_056442.2:p.(Gln270Arg)	NC_000001.10:g.25893365A>G	VUS	1 lab	f2f864b99f
6:56238715 MISSING Ref too long to show for this DEL>T	6	56238715	56277853	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.56238716_56277853del	VUS	1 lab	f2f9a86dbc
16:1004905 LMF1 G>A	16	1004905	1004905	G	A	LMF1	c.-361-239C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004905G>A	(Likely) benign	1 lab	f2fb2bb11a
5:90015880 ADGRV1 G>A	5	90015880	90015880	G	A	ADGRV1	c.9463G>A	NM_032119.4	NP_115495.3:p.(Ala3155Thr)	NC_000005.9:g.90015880G>A	VUS	1 lab	f2fbf97b11
15:45408892 DUOXA2 C>T	15	45408892	45408892	C	T	DUOXA2	c.519C>T	NM_207581.4	NP_997464.2:p.(Tyr173=)	NC_000015.9:g.45408892C>T	(Likely) benign	1 lab	f2fd69a48e
7:91706323 AKAP9 TAATTAG>T	7	91706323	91706329	TAATTAG	T	AKAP9	c.6765+3_6765+8del	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91706324_91706329del	VUS	1 lab	f30153803d
2:220290465 DES G>A	2	220290465	220290465	G	A	DES	c.1369G>A	NM_001927.4	NP_001918.3:p.(Glu457Lys)	NC_000002.11:g.220290465G>A	VUS	1 lab	f304409b27
7:92147059 PEX1 G>A	7	92147059	92147059	G	A	PEX1	c.146C>T	NM_001282678.2	NP_001269607.1:p.(Ser49Phe)	NC_000007.13:g.92147059G>A	VUS	1 lab	f307f52244
4:47938450 CNGA1 G>A	4	47938450	47938450	G	A	CNGA1	c.2049C>T	NM_001142564.2	NP_001136036.2:p.(Ile683=)	NC_000004.11:g.47938450G>A	(Likely) benign	1 lab	f309977de9
15:67482770 SMAD3 A>AC	15	67482770	67482775	A	AC	SMAD3	c.1179dup	NM_005902.4	NP_005893.1:p.(Cys394LeufsTer4)	NC_000015.9:g.67482775dup	(Likely) pathogenic	1 lab	f309ce797f
15:58004298 GCOM1 G>A	15	58004298	58004298	G	A	GCOM1	c.1421G>A	NM_001018090.6	NP_001018100.1:p.(Arg474Gln)	NC_000015.9:g.58004298G>A	(Likely) benign	1 lab	f30b62b37d
2:179614692 TTN G>A	2	179614692	179614692	G	A	TTN	c.12435C>T	NM_133379.5	NP_596870.2:p.(His4145=)	NC_000002.11:g.179614692G>A	(Likely) benign	1 lab	f30be3288f
5:64140796 CWC27 A>G	5	64140796	64140796	A	G	CWC27	c.939-40474A>G	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64140796A>G	(Likely) benign	1 lab	f30e301c21
2:152543997 NEB G>A	2	152543997	152543997	G	A	NEB	c.2573C>T	NM_001271208.2	NP_001258137.2:p.(Ala858Val)	NC_000002.11:g.152543997G>A	VUS	1 lab	f311346098
11:47370479 MYBPC3 T>A	11	47370479	47370479	T	A	MYBPC3	c.655-387A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370479T>A	(Likely) benign	1 lab	f3126ed23d
12:21325651 SLCO1B1 C>T	12	21325651	21325651	C	T	SLCO1B1	c.152C>T	NM_006446.5	NP_006437.3:p.(Ser51Phe)	NC_000012.11:g.21325651C>T	(Likely) benign	1 lab	f314e543bf
8:100221865 VPS13B C>G	8	100221865	100221865	C	G	VPS13B	c.2561C>G	NM_015243.3	NP_056058.2:p.(Ala854Gly)	NC_000008.10:g.100221865C>G	VUS	1 lab	f316689b8f
7:94050089 COL1A2 T>C	7	94050089	94050089	T	C	COL1A2	c.2295+129T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94050089T>C	(Likely) benign	1 lab	f31c6372c8
17:79803101 P4HB A>G	17	79803101	79803101	A	G	P4HB	c.1365T>C	NM_000918.4	NP_000909.2:p.(Ile455=)	NC_000017.10:g.79803101A>G	(Likely) benign	1 lab	f31e4200cd
12:119612410 HSPB8 Ref too long to show for this DEL>T	12	119612410	119622382	Ref too long to show for this DEL	T	HSPB8				NC_000012.11:g.119612411_119622382del	VUS	1 lab	f321b62c43
14:92336724 FBLN5 C>T	14	92336724	92336724	C	T	FBLN5	c.1191G>A	NM_006329.4	NP_006320.2:p.(Thr397=)	NC_000014.8:g.92336724C>T	(Likely) benign	1 lab	f322aed8c9
2:44051167 ABCG5 G>T	2	44051167	44051167	G	T	ABCG5	c.1209C>A	NM_022436.3	NP_071881.1:p.(Phe403Leu)	NC_000002.11:g.44051167G>T	VUS	1 lab	f325d84574
19:11228145 LDLR C>CT	19	11228145	11228156	C	CT	LDLR	c.1845+482dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228156dup	(Likely) benign	1 lab	f32bdd965f
8:75272408 GDAP1 T>G	8	75272408	75272408	T	G	GDAP1	c.347T>G	NM_018972.4	NP_061845.2:p.(Met116Arg)	NC_000008.10:g.75272408T>G	(Likely) pathogenic	1 lab	f32e0c0247
2:133127380 MISSING Ref too long to show for this DEL>C	2	133127380	133306636	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.133127383_133306636del	VUS	1 lab	f32ed02b7a
14:23874442 MYH6 G>A	14	23874442	23874442	G	A	MYH6	c.492C>T	NM_002471.4	NP_002462.2:p.(Tyr164=)	NC_000014.8:g.23874442G>A	(Likely) benign	1 lab	f32f25c23a
2:179431872 TTN G>A	2	179431872	179431872	G	A	TTN	c.71283C>T	NM_133378.4	NP_596869.4:p.(Thr23761=)	NC_000002.11:g.179431872G>A	(Likely) benign	1 lab	f32fbfe6c7
12:124413089 DNAH10 C>A	12	124413089	124413089	C	A	DNAH10	c.11907C>A	NM_207437.3	NP_997320.2:p.(Asp3969Glu)	NC_000012.11:g.124413089C>A	(Likely) benign	1 lab	f330bc73b5
8:10467617 RP1L1 G>T	8	10467617	10467617	G	T	RP1L1	c.3991C>A	NM_178857.6	NP_849188.4:p.(Leu1331Met)	NC_000008.10:g.10467617G>T	(Likely) benign	1 lab	f330c4dfd2
19:11230476 LDLR G>A	19	11230476	11230476	G	A	LDLR	c.1846-292G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230476G>A	(Likely) benign	1 lab	f3340fa79a
1:161276537 MPZ C>T	1	161276537	161276537	C	T	MPZ	c.409G>A	NM_000530.8	NP_000521.2:p.(Gly137Ser)	NC_000001.10:g.161276537C>T	(Likely) pathogenic	1 lab	f338586e3f
11:116661705 APOA5 G>C	11	116661705	116661705	G	C	APOA5	c.240C>G	NM_052968.5	NP_443200.2:p.(Ser80Arg)	NC_000011.9:g.116661705G>C	(Likely) benign	1 lab	f33878cc03
22:20732808 MISSING C>Alt too long to show for this DUP	22	20732808	21465661	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20732811_21465661dup	VUS	1 lab	f33a7bf004
X:154118642 MISSING T>Alt too long to show for this DUP	X	154118642	154564991	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154118643_154564991dup	VUS	1 lab	f33c19a274
8:27124494 MISSING T>Alt too long to show for this DUP	8	27124494	27202805	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.27124496_27202805dup	VUS	1 lab	f33c693fcb
9:139440222 NOTCH1 G>A	9	139440222	139440222	G	A	NOTCH1	c.17C>T	NM_017617.5	NP_060087.3:p.(Ala6Val)	NC_000009.11:g.139440222G>A	(Likely) benign	1 lab	f33c879dfe
1:55529180 PCSK9 A>G	1	55529180	55529180	A	G	PCSK9	c.2002A>G	NM_174936.4	NP_777596.2:p.(Ser668Gly)	NC_000001.10:g.55529180A>G	VUS	1 lab	f33d1b41a5
11:47361874 MYBPC3 TA>T	11	47361874	47361879	TA	T	MYBPC3	c.1928-534del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361879del	(Likely) benign	1 lab	f33d23cbf2
15:85401073 ALPK3 G>A	15	85401073	85401073	G	A	ALPK3	c.3104G>A	NM_020778.5	NP_065829.4:p.(Cys1035Tyr)	NC_000015.9:g.85401073G>A	VUS	1 lab	f33d99bdaa
3:52485884 TNNC1 G>C	3	52485884	52485884	G	C	TNNC1	c.203-10C>G	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52485884G>C	(Likely) benign	1 lab	f34006962b
10:53921579 PRKG1 T>C	10	53921579	53921579	T	C	PRKG1	c.957-70T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53921579T>C	(Likely) benign	1 lab	f3447794d3
12:32996248 PKP2 C>T	12	32996248	32996248	C	T	PKP2	c.1379-1G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32996248C>T	(Likely) benign	1 lab	f34600e1c0
7:128477684 FLNC C>A	7	128477684	128477684	C	A	FLNC	c.851-7C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477684C>A	(Likely) benign	1 lab	f346cfec48
20:35459438 MISSING Ref too long to show for this DEL>C	20	35459438	35495642	Ref too long to show for this DEL	C	MISSING				NC_000020.10:g.35459439_35495642del	VUS	1 lab	f34a575d65
10:6314594 MISSING Ref too long to show for this DEL>G	10	6314594	7350051	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.6314596_7350051del	VUS	1 lab	f34b3f0a2f
22:46860088 CELSR1 G>C	22	46860088	46860088	G	C	CELSR1	c.3699C>G	NM_001378328.1	NP_001365257.1:p.(Ala1233=)	NC_000022.10:g.46860088G>C	(Likely) benign	1 lab	f34dc49c82
19:16606683 CALR3 A>G	19	16606683	16606683	A	G	CALR3	c.92-20T>C	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606683A>G	(Likely) benign	1 lab	f3526bee64
X:30738789 GK G>A	X	30738789	30738789	G	A	GK	c.1288G>A	NM_001205019.2	NP_001191948.1:p.(Val430Ile)	NC_000023.10:g.30738789G>A	VUS	1 lab	f355c7b002
2:29449798 ALK G>T	2	29449798	29449798	G	T	ALK	c.3057C>A	NM_004304.5	NP_004295.2:p.(Val1019=)	NC_000002.11:g.29449798G>T	(Likely) benign	1 lab	f3586fc30d
18:77477962 CTDP1 G>T	18	77477962	77477962	G	T	CTDP1	c.2363G>T	NM_004715.5	NP_004706.3:p.(Gly788Val)	NC_000018.9:g.77477962G>T	VUS	1 lab	f35afe945f
3:37547533 ITGA9 T>C	3	37547533	37547533	T	C	ITGA9	c.785T>C	NM_002207.3	NP_002198.2:p.(Ile262Thr)	NC_000003.11:g.37547533T>C	(Likely) benign	1 lab	f35cd59d7d
6:32011421 TNXB C>T	6	32011421	32011421	C	T	TNXB	c.11525-88G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011421C>T	(Likely) benign	1 lab	f3629fec7a
6:108222727 SEC63 T>A	6	108222727	108222727	T	A	SEC63	c.1210-6A>T	NM_007214.5	NP_009145.1:p.?	NC_000006.11:g.108222727T>A	(Likely) benign	1 lab	f3631a4dd5
6:157527782 ARID1B GC>G	6	157527782	157527783	GC	G	ARID1B	c.5757del	NM_001371656.1	NP_001358585.1:p.(Ser1919ArgfsTer15)	NC_000006.11:g.157527783del	(Likely) pathogenic	1 lab	f364878f9f
8:19805677 LPL T>A	8	19805677	19805677	T	A	LPL	c.89-14T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805677T>A	VUS	1 lab	f365aa41c0
15:86452893 MISSING T>Alt too long to show for this DUP	15	86452893	86778379	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.86452894_86778379dup	VUS	1 lab	f365fa6645
3:128200120 GATA2 A>G	3	128200120	128200120	A	G	GATA2	c.1185T>C	NM_032638.5	NP_116027.2:p.(Thr395=)	NC_000003.11:g.128200120A>G	(Likely) benign	1 lab	f36881a8b1
15:22740572 MISSING C>Alt too long to show for this DUP	15	22740572	23233568	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22740573_23233568dup	(Likely) benign	1 lab	f368f886e3
19:40902768 PRX G>C	19	40902768	40902768	G	C	PRX	c.1491C>G	NM_181882.3	NP_870998.2:p.(Pro497=)	NC_000019.9:g.40902768G>C	(Likely) benign	1 lab	f36923bbcf
16:84050283 SLC38A8 GC>G	16	84050283	84050288	GC	G	SLC38A8	c.1002del	NM_001080442.3	NP_001073911.1:p.(Ser336AlafsTer15)	NC_000016.9:g.84050288del	(Likely) pathogenic	1 lab	f36a95d7be
19:18266929 PIK3R2 C>T	19	18266929	18266929	C	T	PIK3R2	c.240C>T	NM_005027.4	NP_005018.2:p.(Pro80=)	NC_000019.9:g.18266929C>T	(Likely) benign	1 lab	f36c543cb8
X:70443721 GJB1 C>CCACTCCAGCCTGGCTGCAACA	X	70443721	70443722	C	CCACTCCAGCCTGGCTGCAACA	GJB1	c.164_165insCACTCCAGCCTGGCTGCAACA	NM_000166.6	NP_000157.1:p.(Thr55_Leu56insThrProAlaTrpLeuGlnGln)	NC_000023.10:g.70443721_70443722insCACTCCAGCCTGGCTGCAACA	(Likely) pathogenic	1 lab	f36d1dc1b8
15:48789415 FBN1 G>A	15	48789415	48789415	G	A	FBN1	c.2293+48C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48789415G>A	(Likely) benign	1 lab	f36ecc6e61
1:6154626 KCNAB2 G>A	1	6154626	6154626	G	A	KCNAB2	c.588+81G>A	NM_003636.4	NP_003627.1:p.?	NC_000001.10:g.6154626G>A	VUS	1 lab	f36f047d44
9:107546638 ABCA1 T>C	9	107546638	107546638	T	C	ABCA1	c.6744A>G	NM_005502.4	NP_005493.2:p.(Thr2248=)	NC_000009.11:g.107546638T>C	(Likely) benign	1 lab	f3714cba63
10:48382113 RBP3 T>C	10	48382113	48382113	T	C	RBP3	c.3536A>G	NM_002900.3	NP_002891.1:p.(Gln1179Arg)	NC_000010.10:g.48382113T>C	VUS	1 lab	f37336adcd
5:148407060 SH3TC2 A>C	5	148407060	148407060	A	C	SH3TC2	c.2235T>G	NM_024577.4	NP_078853.2:p.(Ala745=)	NC_000005.9:g.148407060A>C	(Likely) benign	1 lab	f3747b0295
3:49692466 BSN G>C	3	49692466	49692466	G	C	BSN	c.5477G>C	NM_003458.4	NP_003449.2:p.(Ser1826Thr)	NC_000003.11:g.49692466G>C	VUS	1 lab	f375076e41
11:17452580 ABCC8 C>T	11	17452580	17452580	C	T	ABCC8	c.1672-74G>A	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17452580C>T	(Likely) benign	1 lab	f3773f883b
1:6111689 KCNAB2 G>A	1	6111689	6111689	G	A	KCNAB2	c.93G>A	NM_001199862.2	NP_001186791.1:p.(Thr31=)	NC_000001.10:g.6111689G>A	(Likely) benign	1 lab	f37a692302
1:6195425 CHD5 G>A	1	6195425	6195425	G	A	CHD5	c.2735C>T	NM_015557.3	NP_056372.1:p.(Ser912Phe)	NC_000001.10:g.6195425G>A	VUS	1 lab	f37f3872b1
6:169617934 THBS2 G>GA	6	169617934	169617944	G	GA	THBS2	c.3512-11dup	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169617944dup	(Likely) benign	1 lab	f380656ff1
2:44104685 ABCG8 GCTGT>G	2	44104685	44104695	GCTGT	G	ABCG8	c.1757-8_1757-5del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104692_44104695del	(Likely) pathogenic	1 lab	f3816a2903
14:24551984 NRL C>T	14	24551984	24551984	C	T	NRL	c.74G>A	NM_006177.5	NP_006168.1:p.(Arg25Gln)	NC_000014.8:g.24551984C>T	VUS	1 lab	f3823bc321
19:52716217 PPP2R1A C>T	19	52716217	52716217	C	T	PPP2R1A	c.124C>T	NM_001363656.2	NP_001350585.1:p.(Arg42Trp)	NC_000019.9:g.52716217C>T	(Likely) pathogenic	1 lab	f383fbbbb1
10:94388590 KIF11 C>T	10	94388590	94388590	C	T	KIF11	c.1243C>T	NM_004523.4	NP_004514.2:p.(Gln415Ter)	NC_000010.10:g.94388590C>T	(Likely) pathogenic	1 lab	f384a19a56
X:432116 MISSING C>Alt too long to show for this DUP	X	432116	794527	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.432118_794527dup	VUS	1 lab	f384d86e23
6:100062483 PRDM13 C>G	6	100062483	100062483	C	G	PRDM13	c.1972C>G	NM_021620.4	NP_067633.2:p.(Leu658Val)	NC_000006.11:g.100062483C>G	(Likely) benign	1 lab	f3870091e9
16:904301 LMF1 G>T	16	904301	904301	G	T	LMF1	n.2097C>A	NR_147885.2		NC_000016.9:g.904301G>T	(Likely) benign	1 lab	f38dcab066
5:141059868 ARAP3 T>C	5	141059868	141059868	T	C	ARAP3	c.186A>G	NM_022481.6	NP_071926.4:p.(Leu62=)	NC_000005.9:g.141059868T>C	(Likely) benign	1 lab	f3a32142ae
9:107564466 ABCA1 C>G	9	107564466	107564466	C	G	ABCA1	c.4593-26G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564466C>G	(Likely) benign	1 lab	f391ba725b
19:45451849 APOC2 T>G	19	45451849	45451849	T	G	APOC2	c.55+59T>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451849T>G	(Likely) benign	1 lab	f3922f8e77
5:148384418 SH3TC2 C>T	5	148384418	148384418	C	T	SH3TC2	c.3723G>A	NM_024577.4	NP_078853.2:p.(Ala1241=)	NC_000005.9:g.148384418C>T	(Likely) benign	1 lab	f3928f9f7a
11:14838060 PDE3B Ref too long to show for this DEL>A	11	14838060	14865877	Ref too long to show for this DEL	A	PDE3B	c.1523-1666_2520+305del	NM_000922.4	NP_000913.2:p.?	NC_000011.9:g.14838063_14865877del	VUS	1 lab	f3946695f6
16:943047 LMF1 C>T	16	943047	943047	C	T	LMF1	c.689G>A	NM_022773.4	NP_073610.2:p.(Arg230Gln)	NC_000016.9:g.943047C>T	(Likely) benign	1 lab	f398842f56
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTT	CACNB2	c.37-17_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439795_18439809dup	(Likely) benign	1 lab	f39af2f754
12:21375306 SLCO1B1 G>GGA	12	21375306	21375307	G	GGA	SLCO1B1	c.1747+8_1747+9insGA	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375306_21375307insGA	(Likely) benign	1 lab	f39b2d57eb
8:59409502 CYP7A1 C>G	8	59409502	59409502	C	G	CYP7A1	c.569G>C	NM_000780.4	NP_000771.2:p.(Arg190Thr)	NC_000008.10:g.59409502C>G	VUS	1 lab	f39dea5a9b
15:22770419 MISSING Ref too long to show for this DEL>A	15	22770419	23277436	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770422_23277436del	(Likely) pathogenic	1 lab	f3a1314111
10:68936734 CTNNA3 A>G	10	68936734	68936734	A	G	CTNNA3	c.1092T>C	NM_001291133.2	NP_001278062.1:p.(Asn364=)	NC_000010.10:g.68936734A>G	(Likely) benign	1 lab	f3a466fbd0
19:11231145 LDLR G>A	19	11231145	11231145	G	A	LDLR	c.2087G>A	NM_000527.5	NP_000518.1:p.(Cys696Tyr)	NC_000019.9:g.11231145G>A	(Likely) pathogenic	1 lab	f3a56176f5
2:191851585 STAT1 G>T	2	191851585	191851585	G	T	STAT1	c.1216C>A	NM_007315.4	NP_009330.1:p.(His406Asn)	NC_000002.11:g.191851585G>T	(Likely) pathogenic	1 lab	f3aa26d1cd
15:85326089 ZNF592 C>T	15	85326089	85326089	C	T	ZNF592	c.183C>T	NM_014630.3	NP_055445.2:p.(Pro61=)	NC_000015.9:g.85326089C>T	(Likely) benign	1 lab	f3abf5851d
9:35802721 NPR2 C>T	9	35802721	35802721	C	T	NPR2	c.1816-8C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802721C>T	(Likely) benign	1 lab	f3acfabce8
6:96550696 FUT9 A>Alt too long to show for this DUP	6	96550696	96596472	A	Alt too long to show for this DUP	FUT9	c.-97-11218_-9+34469dup	NM_006581.4	NP_006572.2:p.?	NC_000006.11:g.96550697_96596472dup	VUS	1 lab	f3b10ded1f
20:44049213 PIGT CAGGACGTCATCCT>C	20	44049213	44049229	CAGGACGTCATCCT	C	PIGT	c.917_929del	NM_015937.6	NP_057021.2:p.(Asp306AlafsTer16)	NC_000020.10:g.44049217_44049229del	(Likely) pathogenic	1 lab	f3b11c14b1
9:107549143 ABCA1 T>C	9	107549143	107549143	T	C	ABCA1	c.6308+11A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549143T>C	(Likely) benign	1 lab	f3b2a75b58
11:118369088 KMT2A T>C	11	118369088	118369088	T	C	KMT2A	c.5806T>C	NM_001197104.2	NP_001184033.1:p.(Cys1936Arg)	NC_000011.9:g.118369088T>C	(Likely) pathogenic	1 lab	f3b5507d5b
19:11230833 LDLR C>T	19	11230833	11230833	C	T	LDLR	c.1911C>T	NM_000527.5	NP_000518.1:p.(Ser637=)	NC_000019.9:g.11230833C>T	(Likely) benign	1 lab	f3b55523e5
11:108199893 ATM A>G	11	108199893	108199893	A	G	ATM	c.7235A>G	NM_000051.4	NP_000042.3:p.(Asn2412Ser)	NC_000011.9:g.108199893A>G	VUS	1 lab	f3b66c161a
9:107584801 ABCA1 T>C	9	107584801	107584801	T	C	ABCA1	c.2804A>G	NM_005502.4	NP_005493.2:p.(Asn935Ser)	NC_000009.11:g.107584801T>C	(Likely) pathogenic	1 lab	f3bbf6b299
16:15872549 MYH11 AG>A	16	15872549	15872551	AG	A	MYH11	c.790+87del	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15872551del	(Likely) benign	1 lab	f3be4b9d3b
13:32911231 BRCA2 C>T	13	32911231	32911231	C	T	BRCA2	c.2739C>T	NM_000059.4	NP_000050.3:p.(Asp913=)	NC_000013.10:g.32911231C>T	(Likely) benign	1 lab	f3beed4da7
15:67681105 IQCH T>Alt too long to show for this DUP	15	67681105	67713918	T	Alt too long to show for this DUP	IQCH	c.1457-63_2505+3dup	NM_001031715.3	NP_001026885.2:p.?	NC_000015.9:g.67681106_67713918dup	VUS	1 lab	f3c81b903c
4:165351587 MISSING Ref too long to show for this DEL>G	4	165351587	166147279	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.165351592_166147279del	VUS	1 lab	f3ce978cd1
14:23886492 MYH7 C>T	14	23886492	23886492	C	T	MYH7	c.4389G>A	NM_000257.4	NP_000248.2:p.(Ser1463=)	NC_000014.8:g.23886492C>T	(Likely) benign	1 lab	f3d17a506a
5:180053097 FLT4 C>T	5	180053097	180053097	C	T	FLT4	c.1258+14G>A	NM_182925.5	NP_891555.2:p.?	NC_000005.9:g.180053097C>T	(Likely) benign	1 lab	f3d37daa19
14:23885218 MYH7 A>G	14	23885218	23885218	A	G	MYH7	c.4948T>C	NM_000257.4	NP_000248.2:p.(Leu1650=)	NC_000014.8:g.23885218A>G	(Likely) benign	1 lab	f3d644914d
6:32020613 TNXB A>G	6	32020613	32020613	A	G	TNXB	c.8943T>C	NM_019105.8	NP_061978.6:p.(Thr2981=)	NC_000006.11:g.32020613A>G	(Likely) benign	1 lab	f3d74ace83
2:60780398 BCL11A C>T	2	60780398	60780398	C	T	BCL11A	c.8G>A	NM_022893.4	NP_075044.2:p.(Arg3His)	NC_000002.11:g.60780398C>T	VUS	1 lab	f3d777d046
1:109566130 WDR47 G>GTCATATTGATAGCCTAAATATGAAACAGAAAAA	1	109566130	109566163	G	GTCATATTGATAGCCTAAATATGAAACAGAAAAA	WDR47	c.-9-20_4dup	NM_001142550.2	NP_001136022.1:p.?	NC_000001.10:g.109566131_109566163dup	VUS	1 lab	f3d8f10b79
19:35524460 SCN1B C>T	19	35524460	35524460	C	T	SCN1B	c.265C>T	NM_199037.5	NP_950238.1:p.(Arg89Cys)	NC_000019.9:g.35524460C>T	VUS	1 lab	f3d9165f8f
15:72767322 ARIH1 G>A	15	72767322	72767322	G	A	ARIH1	c.342G>A	NM_005744.5	NP_005735.2:p.(Val114=)	NC_000015.9:g.72767322G>A	(Likely) benign	1 lab	f3db5abc90
8:10467130 RP1L1 G>A	8	10467130	10467130	G	A	RP1L1	c.4478C>T	NM_178857.6	NP_849188.4:p.(Ala1493Val)	NC_000008.10:g.10467130G>A	(Likely) benign	1 lab	f3dcacbf67
12:125302113 SCARB1 G>A	12	125302113	125302113	G	A	SCARB1	c.267C>T	NM_005505.5	NP_005496.4:p.(Arg89=)	NC_000012.11:g.125302113G>A	(Likely) benign	1 lab	f3de494412
15:48796165 FBN1 A>G	15	48796165	48796165	A	G	FBN1	c.1961-29T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48796165A>G	(Likely) benign	1 lab	f3e4068caf
11:1018366 MUC6 C>T	11	1018366	1018366	C	T	MUC6	c.4435G>A	NM_005961.3	NP_005952.2:p.(Ala1479Thr)	NC_000011.9:g.1018366C>T	(Likely) benign	1 lab	f3e9698af0
19:55668551 TNNI3 C>T	19	55668551	55668551	C	T	TNNI3	c.25-50G>A	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55668551C>T	(Likely) benign	1 lab	f3e9e63adb
15:90151311 MISSING A>Alt too long to show for this DUP	15	90151311	90191053	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.90151312_90191053dup	VUS	1 lab	f3ee8e760b
4:68443368 STAP1 TC>T	4	68443368	68443369	TC	T	STAP1	c.363+392del	NM_012108.4	NP_036240.1:p.?	NC_000004.11:g.68443369del	(Likely) benign	1 lab	f3ef0baaca
12:125284671 SCARB1 G>A	12	125284671	125284671	G	A	SCARB1	c.1127C>T	NM_005505.5	NP_005496.4:p.(Pro376Leu)	NC_000012.11:g.125284671G>A	VUS	1 lab	f3efe301a9
6:16145437 MYLIP C>G	6	16145437	16145437	C	G	MYLIP	c.1137C>G	NM_013262.4	NP_037394.2:p.(Arg379=)	NC_000006.11:g.16145437C>G	(Likely) benign	1 lab	f3f2e6dfd7
1:33245855 YARS1 C>T	1	33245855	33245855	C	T	YARS1	c.1165G>A	NM_003680.4	NP_003671.1:p.(Val389Ile)	NC_000001.10:g.33245855C>T	VUS	1 lab	f3f349888d
14:21868689 CHD8 C>A	14	21868689	21868689	C	A	CHD8	c.4453G>T	NM_001170629.2	NP_001164100.1:p.(Ala1485Ser)	NC_000014.8:g.21868689C>A	VUS	1 lab	f3f49da39e
2:44040329 ABCG5 A>G	2	44040329	44040329	A	G	ABCG5	c.1882T>C	NM_022436.3	NP_071881.1:p.(Tyr628His)	NC_000002.11:g.44040329A>G	(Likely) pathogenic	1 lab	f3f52035f9
11:5247528 HBB G>C	11	5247528	5247528	G	C	HBB	c.315+279C>G	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247528G>C	(Likely) pathogenic	1 lab	f3f6840306
3:63898360 ATXN7 G>GGCAGCAGCAGCA	3	63898360	63898392	G	GGCAGCAGCAGCA	ATXN7	c.107_118dup	NM_000333.4	NP_000324.1:p.(Gln36_Gln39dup)	NC_000003.11:g.63898381_63898392dup	(Likely) benign	1 lab	f3f69d440a
6:7577722 DSP C>T	6	7577722	7577722	C	T	DSP	c.2878-290C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577722C>T	(Likely) benign	1 lab	f3f6c5d854
16:46782007 MYLK3 G>A	16	46782007	46782007	G	A	MYLK3	c.99C>T	NM_182493.3	NP_872299.2:p.(Asn33=)	NC_000016.9:g.46782007G>A	(Likely) benign	1 lab	f3f7f8fc17
1:116943565 ATP1A1 C>G	1	116943565	116943565	C	G	ATP1A1	c.2655C>G	NM_001160233.2	NP_001153705.1:p.(Gly885=)	NC_000001.10:g.116943565C>G	(Likely) benign	1 lab	f3fd7eb700
8:19810931 LPL T>C	8	19810931	19810931	T	C	LPL	c.540T>C	NM_000237.3	NP_000228.1:p.(Thr180=)	NC_000008.10:g.19810931T>C	(Likely) benign	1 lab	f3fff487a4
2:74184298 DGUOK G>A	2	74184298	74184298	G	A	DGUOK	c.638G>A	NM_080916.3	NP_550438.1:p.(Gly213Glu)	NC_000002.11:g.74184298G>A	VUS	1 lab	f401bf4b1f
6:16141941 MYLIP C>A	6	16141941	16141941	C	A	MYLIP	c.364C>A	NM_013262.4	NP_037394.2:p.(Leu122Ile)	NC_000006.11:g.16141941C>A	VUS	1 lab	f401cbb3d3
3:38607986 SCN5A GC>G	3	38607986	38607987	GC	G	SCN5A	c.3753del	NM_198056.3	NP_932173.1:p.(Leu1252TrpfsTer28)	NC_000003.11:g.38607987del	(Likely) pathogenic	1 lab	f40783b248
17:2227572 TSR1 G>A	17	2227572	2227572	G	A	TSR1	c.2333C>T	NM_018128.5	NP_060598.3:p.(Thr778Ile)	NC_000017.10:g.2227572G>A	(Likely) benign	1 lab	f4089829ef
6:71009993 COL9A1 A>G	6	71009993	71009993	A	G	COL9A1	c.166+19T>C	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71009993A>G	(Likely) benign	1 lab	f40d3452e9
2:234255077 SAG T>C	2	234255077	234255077	T	C	SAG	c.1112+19T>C	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234255077T>C	(Likely) benign	1 lab	f40eecc17c
20:57470728 GNAS G>A	20	57470728	57470728	G	A	GNAS	c.2130G>A	NM_080425.4	NP_536350.2:p.(Gly710=)	NC_000020.10:g.57470728G>A	(Likely) benign	1 lab	f40fe09d69
2:179577592 TTN T>C	2	179577592	179577592	T	C	TTN	c.27160A>G	NM_001267550.2	NP_001254479.2:p.(Lys9054Glu)	NC_000002.11:g.179577592T>C	VUS	1 lab	f412e54382
19:11218160 LDLR G>C	19	11218160	11218160	G	C	LDLR	c.910G>C	NM_000527.5	NP_000518.1:p.(Asp304His)	NC_000019.9:g.11218160G>C	(Likely) pathogenic	1 lab	f4130fcab1
6:7583770 DSP C>T	6	7583770	7583770	C	T	DSP	c.6275C>T	NM_004415.4	NP_004406.2:p.(Ala2092Val)	NC_000006.11:g.7583770C>T	VUS	1 lab	f416feae1a
12:110238544 TRPV4 G>A	12	110238544	110238544	G	A	TRPV4	c.732C>T	NM_021625.5	NP_067638.3:p.(Ile244=)	NC_000012.11:g.110238544G>A	(Likely) benign	1 lab	f4174f5567
X:77244982 ATP7A T>C	X	77244982	77244982	T	C	ATP7A	c.864T>C	NM_000052.7	NP_000043.4:p.(Cys288=)	NC_000023.10:g.77244982T>C	(Likely) benign	1 lab	f418a45b2f
2:21264937 APOB T>G	2	21264937	21264937	T	G	APOB	c.237+296A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21264937T>G	(Likely) benign	1 lab	f41945da22
5:16617075 RETREG1 C>G	5	16617075	16617075	C	G	RETREG1	c.6G>C	NM_001034850.3	NP_001030022.1:p.(Ala2=)	NC_000005.9:g.16617075C>G	(Likely) benign	1 lab	f41a8ff6d4
21:22763744 MISSING G>Alt too long to show for this DUP	21	22763744	23005100	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.22763745_23005100dup	(Likely) pathogenic	1 lab	f5d913592b
18:47117374 LIPG A>G	18	47117374	47117374	A	G	LIPG	c.*482A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47117374A>G	(Likely) benign	1 lab	f41f7458c2
16:14041770 ERCC4 G>C	16	14041770	14041770	G	C	ERCC4	c.2317G>C	NM_005236.3	NP_005227.1:p.(Gly773Arg)	NC_000016.9:g.14041770G>C	VUS	1 lab	f42049154c
8:68062182 CSPP1 CT>C	8	68062182	68062206	CT	C	CSPP1	c.1079-4053del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062206del	(Likely) benign	1 lab	f421142712
11:47365303 MYBPC3 T>G	11	47365303	47365303	T	G	MYBPC3	c.1091-128A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365303T>G	(Likely) benign	1 lab	f423a114ba
2:150432945 MMADHC A>C	2	150432945	150432945	A	C	MMADHC	c.478+6T>G	NM_015702.3	NP_056517.1:p.?	NC_000002.11:g.150432945A>C	(Likely) benign	1 lab	f423e1afe4
16:90001294 TUBB3 C>T	16	90001294	90001294	C	T	TUBB3	c.219C>T	NM_001197181.2	NP_001184110.1:p.(Ser73=)	NC_000016.9:g.90001294C>T	(Likely) benign	1 lab	f4296c7b6f
1:161276545 MPZ T>C	1	161276545	161276545	T	C	MPZ	c.401A>G	NM_000530.8	NP_000521.2:p.(Asp134Gly)	NC_000001.10:g.161276545T>C	(Likely) pathogenic	1 lab	f429959885
12:59313969 LRIG3 C>T	12	59313969	59313969	C	T	LRIG3	c.48G>A	NM_153377.5	NP_700356.2:p.(Leu16=)	NC_000012.11:g.59313969C>T	(Likely) benign	1 lab	f42b2d7cdd
X:70443564 GJB1 T>C	X	70443564	70443564	T	C	GJB1	c.7T>C	NM_000166.6	NP_000157.1:p.(Trp3Arg)	NC_000023.10:g.70443564T>C	(Likely) pathogenic	1 lab	f42ce63074
12:2787051 CACNA1C G>A	12	2787051	2787051	G	A	CACNA1C	c.5235+18G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2787051G>A	(Likely) benign	1 lab	f42e08d489
2:179439876 TTN C>T	2	179439876	179439876	C	T	TTN	c.70983G>A	NM_001267550.2	NP_001254479.2:p.(Pro23661=)	NC_000002.11:g.179439876C>T	(Likely) benign	1 lab	f430f10078
12:32955432 PKP2 C>T	12	32955432	32955432	C	T	PKP2	c.2204G>A	NM_004572.4	NP_004563.2:p.(Arg735Gln)	NC_000012.11:g.32955432C>T	VUS	1 lab	f43195dab5
12:102046874 MYBPC1 AC>A	12	102046874	102046875	AC	A	MYBPC1	c.1634-18del	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102046875del	(Likely) benign	1 lab	f432db8d10
20:13029788 SPTLC3 C>T	20	13029788	13029788	C	T	SPTLC3	c.303+10C>T	NM_001349945.2	NP_001336874.1:p.?	NC_000020.10:g.13029788C>T	(Likely) benign	1 lab	f4343a2496
11:67223136 CABP4 C>T	11	67223136	67223136	C	T	CABP4	c.242C>T	NM_145200.5	NP_660201.1:p.(Ala81Val)	NC_000011.9:g.67223136C>T	(Likely) benign	1 lab	f436edc3cc
16:29622755 MISSING Ref too long to show for this DEL>A	16	29622755	30265941	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29622756_30265941del	(Likely) pathogenic	1 lab	f4397a23d5
1:55509717 PCSK9 C>T	1	55509717	55509717	C	T	PCSK9	c.399+10C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509717C>T	(Likely) benign	1 lab	f43a64668c
8:134108459 TG G>C	8	134108459	134108459	G	C	TG	c.7414G>C	NM_003235.5	NP_003226.4:p.(Val2472Leu)	NC_000008.10:g.134108459G>C	(Likely) benign	1 lab	f43c747096
20:23016780 SSTR4 C>T	20	23016780	23016780	C	T	SSTR4	c.660C>T	NM_001052.4	NP_001043.2:p.(Phe220=)	NC_000020.10:g.23016780C>T	(Likely) benign	1 lab	f43cd7ad19
11:47359859 MYBPC3 A>T	11	47359859	47359859	A	T	MYBPC3	c.2308+212T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359859A>T	(Likely) benign	1 lab	f43d86b328
8:100789093 VPS13B T>C	8	100789093	100789093	T	C	VPS13B	c.7413T>C	NM_017890.5	NP_060360.3:p.(Phe2471=)	NC_000008.10:g.100789093T>C	(Likely) benign	1 lab	f44f82d92f
11:118038844 SCN2B C>T	11	118038844	118038844	C	T	SCN2B	c.404G>A	NM_004588.5	NP_004579.1:p.(Arg135His)	NC_000011.9:g.118038844C>T	VUS	1 lab	f452eb9d98
17:4802680 CHRNE C>G	17	4802680	4802680	C	G	CHRNE	c.1033-1G>C	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4802680C>G	(Likely) pathogenic	1 lab	f453d36104
19:10097443 COL5A3 TA>T	19	10097443	10097454	TA	T	COL5A3	c.2146-10del	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10097454del	(Likely) benign	1 lab	f45596e7a5
16:67974105 LCAT C>T	16	67974105	67974105	C	T	LCAT	c.1025G>A	NM_000229.2	NP_000220.1:p.(Gly342Asp)	NC_000016.9:g.67974105C>T	VUS	1 lab	f455a898cc
3:184072459 CLCN2 G>A	3	184072459	184072459	G	A	CLCN2	c.1397-13C>T	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184072459G>A	(Likely) benign	1 lab	f4575cc933
11:66278493 BBS1 C>G	11	66278493	66278493	C	G	BBS1	c.57C>G	NM_024649.5	NP_078925.3:p.(Ala19=)	NC_000011.9:g.66278493C>G	(Likely) benign	1 lab	f45ab0ef6c
X:2635530 MISSING T>Alt too long to show for this DUP	X	2635530	3110240	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2635531_3110240dup	VUS	1 lab	0a1310303c
7:91631706 AKAP9 T>G	7	91631706	91631706	T	G	AKAP9	c.2475T>G	NM_005751.5	NP_005742.4:p.(Leu825=)	NC_000007.13:g.91631706T>G	(Likely) benign	1 lab	f45c6a9d58
10:126686714 CTBP2 A>G	10	126686714	126686714	A	G	CTBP2	c.2004T>C	NM_022802.3	NP_073713.2:p.(Ser668=)	NC_000010.10:g.126686714A>G	(Likely) benign	1 lab	f45c7a8bc2
22:20459331 RIMBP3 G>C	22	20459331	20459331	G	C	RIMBP3	c.1971C>G	NM_015672.2	NP_056487.1:p.(Ala657=)	NC_000022.10:g.20459331G>C	(Likely) benign	1 lab	f45cf7e9d9
9:133738356 ABL1 G>A	9	133738356	133738356	G	A	ABL1	c.756G>A	NM_005157.6	NP_005148.2:p.(Gln252=)	NC_000009.11:g.133738356G>A	(Likely) benign	1 lab	f45eec81d0
18:29178574 TTR T>C	18	29178574	29178574	T	C	TTR	c.380T>C	NM_000371.4	NP_000362.1:p.(Ile127Thr)	NC_000018.9:g.29178574T>C	(Likely) pathogenic	1 lab	f45fa3ae4b
18:9400301 TWSG1 C>CA	18	9400301	9400304	C	CA	TWSG1	c.*779dup	NM_020648.6	NP_065699.1:p.?	NC_000018.9:g.9400304dup	(Likely) benign	1 lab	f465c50007
16:28877720 SH2B1 C>T	16	28877720	28877720	C	T	SH2B1	c.305C>T	NM_015503.3	NP_056318.2:p.(Ser102Leu)	NC_000016.9:g.28877720C>T	VUS	1 lab	f468e160be
2:179444903 TTN C>T	2	179444903	179444903	C	T	TTN	c.67111G>A	NM_001267550.2	NP_001254479.2:p.(Ala22371Thr)	NC_000002.11:g.179444903C>T	VUS	1 lab	f46ca11e7e
14:23886180 MYH7 T>G	14	23886180	23886180	T	G	MYH7	c.4541A>C	NM_000257.4	NP_000248.2:p.(Glu1514Ala)	NC_000014.8:g.23886180T>G	VUS	1 lab	f473c6975a
1:103573623 COL11A1 T>C	1	103573623	103573623	T	C	COL11A1	c.106+6A>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103573623T>C	(Likely) benign	1 lab	f475834a32
17:79803433 P4HB G>A	17	79803433	79803433	G	A	P4HB	c.1359+4C>T	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79803433G>A	(Likely) benign	1 lab	f4765f89e8
16:77375618 ADAMTS18 C>T	16	77375618	77375618	C	T	ADAMTS18	c.1693G>A	NM_199355.4	NP_955387.1:p.(Val565Ile)	NC_000016.9:g.77375618C>T	(Likely) benign	1 lab	f478a0bb8f
11:103062991 DYNC2H1 C>T	11	103062991	103062991	C	T	DYNC2H1	c.7706C>T	NM_001080463.2	NP_001073932.1:p.(Ser2569Leu)	NC_000011.9:g.103062991C>T	(Likely) pathogenic	1 lab	f47bc1a6bb
3:38595773 SCN5A C>T	3	38595773	38595773	C	T	SCN5A	c.4810G>A	NM_001099404.2	NP_001092874.1:p.(Val1604Met)	NC_000003.11:g.38595773C>T	VUS	1 lab	f4814ea084
9:111641721 ELP1 C>A	9	111641721	111641721	C	A	ELP1	c.3572+5G>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111641721C>A	VUS	1 lab	f48156c0a5
17:62028835 SCN4A C>G	17	62028835	62028835	C	G	SCN4A	c.2802G>C	NM_000334.4	NP_000325.4:p.(Glu934Asp)	NC_000017.10:g.62028835C>G	VUS	1 lab	f48259f357
7:138596028 KIAA1549 G>A	7	138596028	138596028	G	A	KIAA1549	c.3009C>T	NM_020910.3	NP_065961.2:p.(Ser1003=)	NC_000007.13:g.138596028G>A	(Likely) benign	1 lab	f484fd5ed0
9:139302015 ENTR1 TAAAA>T	9	139302015	139302037	TAAAA	T	ENTR1	c.403-6_403-3del	NM_001039707.2	NP_001034796.1:p.?	NC_000009.11:g.139302034_139302037del	(Likely) benign	1 lab	f48563a443
7:5352635 TNRC18 T>G	7	5352635	5352635	T	G	TNRC18	c.7887A>C	NM_001080495.3	NP_001073964.2:p.(Ser2629=)	NC_000007.13:g.5352635T>G	(Likely) benign	1 lab	f48b90bed9
19:50910341 POLD1 C>T	19	50910341	50910341	C	T	POLD1	c.1596C>T	NM_002691.4	NP_002682.2:p.(Ala532=)	NC_000019.9:g.50910341C>T	(Likely) benign	1 lab	f48c1e109f
1:63067513 ANGPTL3 C>G	1	63067513	63067513	C	G	ANGPTL3	c.795C>G	NM_014495.4	NP_055310.1:p.(Ser265Arg)	NC_000001.10:g.63067513C>G	VUS	1 lab	f48c41f340
18:2705675 SMCHD1 T>A	18	2705675	2705675	T	A	SMCHD1	c.1843-17T>A	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2705675T>A	(Likely) benign	1 lab	f48c58e66b
16:920732 LMF1 C>A	16	920732	920732	C	A	LMF1	c.830G>T	NM_001352018.2	NP_001338947.1:p.(Gly277Val)	NC_000016.9:g.920732C>A	VUS	1 lab	f48d4da5be
1:94544200 ABCA4 T>C	1	94544200	94544200	T	C	ABCA4	c.1302A>G	NM_000350.3	NP_000341.2:p.(Val434=)	NC_000001.10:g.94544200T>C	(Likely) benign	1 lab	f490805639
7:91670120 AKAP9 A>C	7	91670120	91670120	A	C	AKAP9	c.4825A>C	NM_005751.5	NP_005742.4:p.(Arg1609=)	NC_000007.13:g.91670120A>C	(Likely) benign	1 lab	f491cba074
19:2183923 MISSING C>Alt too long to show for this DUP	19	2183923	2252064	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.2183924_2252064dup	VUS	1 lab	f4927679fe
X:67937674 STARD8 A>C	X	67937674	67937674	A	C	STARD8	c.918A>C	NM_001142503.3	NP_001135975.1:p.(Lys306Asn)	NC_000023.10:g.67937674A>C	(Likely) benign	1 lab	f492e77adf
2:179613771 TTN C>T	2	179613771	179613771	C	T	TTN	c.13356G>A	NM_133379.5	NP_596870.2:p.(Pro4452=)	NC_000002.11:g.179613771C>T	(Likely) benign	1 lab	f4936f5c2e
9:375381 DOCK8 Ref too long to show for this DEL>C	9	375381	458064	Ref too long to show for this DEL	C	DOCK8	c.2110-827_6069-5453del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.375383_458064del	VUS	1 lab	f498c45c2a
18:47110023 LIPG G>A	18	47110023	47110023	G	A	LIPG	c.1255G>A	NM_006033.4	NP_006024.1:p.(Ala419Thr)	NC_000018.9:g.47110023G>A	(Likely) benign	1 lab	f49d09d886
18:6942020 MISSING Ref too long to show for this DEL>A	18	6942020	7267046	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.6942021_7267046del	VUS	1 lab	f49ed8103a
17:39921279 JUP T>A	17	39921279	39921279	T	A	JUP	c.950A>T	NM_001352773.2	NP_001339702.1:p.(Gln317Leu)	NC_000017.10:g.39921279T>A	VUS	1 lab	f49edde71f
9:107594698 ABCA1 G>A	9	107594698	107594698	G	A	ABCA1	c.1509+157C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107594698G>A	VUS	1 lab	f49efaad96
1:55523105 PCSK9 G>C	1	55523105	55523105	G	C	PCSK9	c.1098G>C	NM_174936.4	NP_777596.2:p.(Glu366Asp)	NC_000001.10:g.55523105G>C	VUS	1 lab	f4a2b40e13
1:94496602 ABCA4 G>A	1	94496602	94496602	G	A	ABCA4	c.4203C>T	NM_000350.3	NP_000341.2:p.(Pro1401=)	NC_000001.10:g.94496602G>A	(Likely) benign	1 lab	f4a900624f
8:133880436 TG C>T	8	133880436	133880436	C	T	TG	c.144C>T	NM_003235.5	NP_003226.4:p.(Tyr48=)	NC_000008.10:g.133880436C>T	(Likely) benign	1 lab	f4aebc2eff
20:54824309 MC3R C>T	20	54824309	54824309	C	T	MC3R	c.410C>T	NM_019888.3	NP_063941.3:p.(Ala137Val)	NC_000020.10:g.54824309C>T	(Likely) benign	1 lab	f4b36ab0fd
4:57797467 REST C>T	4	57797467	57797467	C	T	REST	c.2443C>T	NM_005612.5	NP_005603.3:p.(Pro815Ser)	NC_000004.11:g.57797467C>T	(Likely) benign	1 lab	f4b3d40195
12:21377720 SLCO1B1 C>T	12	21377720	21377720	C	T	SLCO1B1	c.1812C>T	NM_006446.5	NP_006437.3:p.(Thr604=)	NC_000012.11:g.21377720C>T	(Likely) benign	1 lab	f4b48d8428
6:112430639 LAMA4 G>A	6	112430639	112430639	G	A	LAMA4	c.*1C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112430639G>A	(Likely) benign	1 lab	f4b49cba98
5:149516600 PDGFRB G>T	5	149516600	149516600	G	T	PDGFRB	c.11C>A	NM_002609.4	NP_002600.1:p.(Pro4Gln)	NC_000005.9:g.149516600G>T	VUS	1 lab	f4b4c53387
2:179448411 TTN C>G	2	179448411	179448411	C	G	TTN	c.65498G>C	NM_001267550.2	NP_001254479.2:p.(Arg21833Thr)	NC_000002.11:g.179448411C>G	VUS	1 lab	f4b4f10ef8
15:48903104 FBN1 C>T	15	48903104	48903104	C	T	FBN1	c.248-81G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48903104C>T	(Likely) benign	1 lab	f4b877c78d
1:11907422 NPPA C>T	1	11907422	11907422	C	T	NPPA	c.198G>A	NM_006172.4	NP_006163.1:p.(Pro66=)	NC_000001.10:g.11907422C>T	(Likely) benign	1 lab	f4c3d97107
15:73614870 HCN4 A>C	15	73614870	73614870	A	C	HCN4	c.3564T>G	NM_005477.3	NP_005468.1:p.(Pro1188=)	NC_000015.9:g.73614870A>C	(Likely) benign	1 lab	f4c51511f1
2:179437349 TTN T>C	2	179437349	179437349	T	C	TTN	c.73510A>G	NM_001267550.2	NP_001254479.2:p.(Ser24504Gly)	NC_000002.11:g.179437349T>C	VUS	1 lab	f4c96189d0
8:10470508 RP1L1 C>T	8	10470508	10470508	C	T	RP1L1	c.1100G>A	NM_178857.6	NP_849188.4:p.(Cys367Tyr)	NC_000008.10:g.10470508C>T	(Likely) benign	1 lab	f4cd8d7e18
2:25061455 ADCY3 C>G	2	25061455	25061455	C	G	ADCY3	c.1392G>C	NM_004036.5	NP_004027.2:p.(Leu464=)	NC_000002.11:g.25061455C>G	(Likely) benign	1 lab	f4d3464413
18:19433115 MIB1 G>C	18	19433115	19433115	G	C	MIB1	c.2601G>C	NM_020774.4	NP_065825.1:p.(Val867=)	NC_000018.9:g.19433115G>C	(Likely) benign	1 lab	f4ddc2afd2
19:11223663 LDLR CTTTTTTT>C	19	11223663	11223685	CTTTTTTT	C	LDLR	c.1187-275_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223679_11223685del	(Likely) benign	1 lab	f4e11e8085
15:91424029 FURIN C>T	15	91424029	91424029	C	T	FURIN	c.1665C>T	NM_001289824.2	NP_001276753.1:p.(Ser555=)	NC_000015.9:g.91424029C>T	(Likely) benign	1 lab	f4e1739981
2:47202108 TTC7A G>A	2	47202108	47202108	G	A	TTC7A	c.518-4G>A	NM_001288951.2	NP_001275880.1:p.?	NC_000002.11:g.47202108G>A	(Likely) benign	1 lab	f4e26422fb
10:103825292 HPS6 C>A	10	103825292	103825292	C	A	HPS6	c.61C>A	NM_024747.6	NP_079023.2:p.(Arg21=)	NC_000010.10:g.103825292C>A	(Likely) benign	1 lab	f4e6119175
1:3160540 PRDM16 C>A	1	3160540	3160540	C	A	PRDM16	c.388-111C>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3160540C>A	(Likely) benign	1 lab	f4e62cc5fd
3:57743581 SLMAP T>C	3	57743581	57743581	T	C	SLMAP	c.198+5T>C	NM_001304420.3	NP_001291349.1:p.?	NC_000003.11:g.57743581T>C	(Likely) benign	1 lab	f4e9bde892
2:179616063 TTN A>G	2	179616063	179616063	A	G	TTN	c.11064T>C	NM_133379.5	NP_596870.2:p.(Asn3688=)	NC_000002.11:g.179616063A>G	(Likely) benign	1 lab	f4eae4e73d
16:919978 LMF1 A>G	16	919978	919978	A	G	LMF1	c.1321T>C	NM_022773.4	NP_073610.2:p.(Phe441Leu)	NC_000016.9:g.919978A>G	VUS	1 lab	f4eb83defc
12:133306784 ANKLE2 T>G	12	133306784	133306784	T	G	ANKLE2				NC_000012.11:g.133306784T>G	VUS	1 lab	a2bcc002df
2:179576742 TTN C>G	2	179576742	179576742	C	G	TTN	c.27815G>C	NM_001267550.2	NP_001254479.2:p.(Ser9272Thr)	NC_000002.11:g.179576742C>G	VUS	1 lab	f4ebe06acd
X:31972540 DMD Ref too long to show for this DEL>G	X	31972540	32070620	Ref too long to show for this DEL	G	DMD	c.6439-83988_6614+13915del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31972542_32070620del	(Likely) pathogenic	1 lab	f4eedebb51
6:123696734 TRDN A>C	6	123696734	123696734	A	C	TRDN	c.1273+16T>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123696734A>C	(Likely) benign	1 lab	f4f467fadb
9:135203334 SETX C>A	9	135203334	135203334	C	A	SETX	c.3651G>T	NM_015046.7	NP_055861.3:p.(Thr1217=)	NC_000009.11:g.135203334C>A	(Likely) benign	1 lab	f4f5296d0d
11:118339498 KMT2A A>G	11	118339498	118339498	A	G	KMT2A	c.441A>G	NM_001197104.2	NP_001184033.1:p.(Gln147=)	NC_000011.9:g.118339498A>G	(Likely) benign	1 lab	f4f9f1aa8c
3:129247779 RHO T>G	3	129247779	129247779	T	G	RHO	c.203T>G	NM_000539.3	NP_000530.1:p.(Leu68Arg)	NC_000003.11:g.129247779T>G	VUS	1 lab	f4fa4581b3
10:90767482 FAS A>G	10	90767482	90767482	A	G	FAS	c.222A>G	NM_000043.6	NP_000034.1:p.(Thr74=)	NC_000010.10:g.90767482A>G	(Likely) benign	1 lab	f4fbb3ca1a
7:154561150 DPP6 G>A	7	154561150	154561150	G	A	DPP6	c.907G>A	NM_130797.4	NP_570629.2:p.(Ala303Thr)	NC_000007.13:g.154561150G>A	VUS	1 lab	f50106d657
4:73178202 ADAMTS3 T>G	4	73178202	73178202	T	G	ADAMTS3	c.1746-19A>C	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73178202T>G	(Likely) benign	1 lab	f5041192b0
7:106835409 MISSING T>Alt too long to show for this DUP	7	106835409	107454407	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.106835411_107454407dup	VUS	1 lab	f509131fd9
10:73562850 CDH23 G>A	10	73562850	73562850	G	A	CDH23	c.7660+18G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73562850G>A	(Likely) benign	1 lab	f5091c7f5c
X:41245596 MISSING A>Alt too long to show for this DUP	X	41245596	41350954	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.41245597_41350954dup	VUS	1 lab	f50ceb7b2f
1:161277055 MPZ G>A	1	161277055	161277055	G	A	MPZ	c.227C>T	NM_000530.8	NP_000521.2:p.(Ala76Val)	NC_000001.10:g.161277055G>A	VUS	1 lab	f50e34320d
2:241679103 KIF1A G>A	2	241679103	241679103	G	A	KIF1A	c.3599-17C>T	NM_001379636.1	NP_001366565.1:p.?	NC_000002.11:g.241679103G>A	(Likely) benign	1 lab	f510cf260a
3:125108922 MISSING Ref too long to show for this DEL>A	3	125108922	125280960	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.125108924_125280960del	VUS	1 lab	f511d9142c
1:55512339 PCSK9 C>T	1	55512339	55512339	C	T	PCSK9	c.523+20C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55512339C>T	(Likely) benign	1 lab	f51b2d2be3
20:10633394 JAG1 G>A	20	10633394	10633394	G	A	JAG1	c.756-148C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10633394G>A	(Likely) benign	1 lab	f51ebed195
9:14828 WASHC1 GTCC>G	9	14828	14836	GTCC	G	WASHC1	c.1374_1376del	NM_182905.6	NP_878908.4:p.(Glu458del)	NC_000009.11:g.14834_14836del	(Likely) benign	1 lab	f520b965f5
9:117266627 WHRN A>T	9	117266627	117266627	A	T	WHRN	c.455T>A	NM_001173425.2	NP_001166896.1:p.(Leu152Ter)	NC_000009.11:g.117266627A>T	(Likely) pathogenic	1 lab	f520f417b8
5:178284135 MISSING Ref too long to show for this DEL>C	5	178284135	178353341	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.178284136_178353341del	VUS	1 lab	f5211e67f0
6:64574102 EYS C>T	6	64574102	64574102	C	T	EYS	c.7205G>A	NM_001292009.2	NP_001278938.1:p.(Arg2402Lys)	NC_000006.11:g.64574102C>T	VUS	1 lab	f52271f2bb
1:151377999 POGZ G>A	1	151377999	151377999	G	A	POGZ	c.3512C>T	NM_015100.4	NP_055915.2:p.(Pro1171Leu)	NC_000001.10:g.151377999G>A	(Likely) pathogenic	1 lab	f5230ab648
16:67973820 LCAT G>A	16	67973820	67973820	G	A	LCAT	c.1310C>T	NM_000229.2	NP_000220.1:p.(Pro437Leu)	NC_000016.9:g.67973820G>A	(Likely) benign	1 lab	f5279e6b45
3:38648155 SCN5A C>T	3	38648155	38648155	C	T	SCN5A	c.1140+5G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38648155C>T	(Likely) pathogenic	1 lab	f57833b332
15:71839592 THSD4 C>A	15	71839592	71839592	C	A	THSD4	c.1153-113277C>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71839592C>A	(Likely) benign	1 lab	f52bff170d
2:47399601 CALM2 A>G	2	47399601	47399601	A	G	CALM2	c.-1803T>C	NM_001305626.1	NP_001292555.1:p.?	NC_000002.11:g.47399601A>G	(Likely) benign	1 lab	f52cde6889
1:63063331 ANGPTL3 G>C	1	63063331	63063331	G	C	ANGPTL3	c.94G>C	NM_014495.4	NP_055310.1:p.(Glu32Gln)	NC_000001.10:g.63063331G>C	VUS	1 lab	f5c16be5c6
12:49427995 KMT2D A>G	12	49427995	49427995	A	G	KMT2D	c.10595T>C	NM_003482.4	NP_003473.3:p.(Ile3532Thr)	NC_000012.11:g.49427995A>G	(Likely) pathogenic	1 lab	f52d2f79fd
12:54677686 HNRNPA1 T>G	12	54677686	54677686	T	G	HNRNPA1	c.998T>G	NM_031157.4	NP_112420.1:p.(Phe333Cys)	NC_000012.11:g.54677686T>G	(Likely) benign	1 lab	f53140c2e9
9:133543564 PRDM12 C>T	9	133543564	133543564	C	T	PRDM12	c.434C>T	NM_021619.3	NP_067632.2:p.(Thr145Met)	NC_000009.11:g.133543564C>T	VUS	1 lab	f5393ea344
9:135163966 SETX C>G	9	135163966	135163966	C	G	SETX	c.6179G>C	NM_015046.7	NP_055861.3:p.(Ser2060Thr)	NC_000009.11:g.135163966C>G	VUS	1 lab	f53a02ee79
3:53783341 CACNA1D A>G	3	53783341	53783341	A	G	CACNA1D	c.3421A>G	NM_000720.4	NP_000711.1:p.(Ile1141Val)	NC_000003.11:g.53783341A>G	(Likely) benign	1 lab	f53a34a369
16:2103408 TSC2 C>G	16	2103408	2103408	C	G	TSC2	c.291C>G	NM_000548.5	NP_000539.2:p.(Ala97=)	NC_000016.9:g.2103408C>G	(Likely) benign	1 lab	f53bdcd30e
16:88789523 PIEZO1 C>T	16	88789523	88789523	C	T	PIEZO1	c.4475G>A	NM_001142864.4	NP_001136336.2:p.(Gly1492Asp)	NC_000016.9:g.88789523C>T	(Likely) benign	1 lab	f53c214135
3:38639295 SCN5A GAGT>G	3	38639295	38639299	GAGT	G	SCN5A	c.2184_2186del	NM_198056.3	NP_932173.1:p.(Leu729del)	NC_000003.11:g.38639297_38639299del	(Likely) pathogenic	1 lab	f53c4d0e55
1:6527745 PLEKHG5 C>T	1	6527745	6527745	C	T	PLEKHG5	c.3012-113G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6527745C>T	(Likely) benign	1 lab	f540d74359
7:128477714 FLNC G>A	7	128477714	128477714	G	A	FLNC	c.874G>A	NM_001458.5	NP_001449.3:p.(Val292Met)	NC_000007.13:g.128477714G>A	VUS	1 lab	f542158ea9
16:67976250 LCAT T>A	16	67976250	67976250	T	A	LCAT	c.748+16A>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976250T>A	(Likely) benign	1 lab	f544420edb
12:1969293 CACNA2D4 A>G	12	1969293	1969293	A	G	CACNA2D4	c.1940+18T>C	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1969293A>G	(Likely) benign	1 lab	f54539f58d
11:108141865 ATM A>G	11	108141865	108141865	A	G	ATM	c.2913A>G	NM_000051.4	NP_000042.3:p.(Lys971=)	NC_000011.9:g.108141865A>G	(Likely) benign	1 lab	f548293eee
17:41243032 BRCA1 A>AC	17	41243032	41243035	A	AC	BRCA1	c.4113dup	NM_007294.4	NP_009225.1:p.(Cys1372ValfsTer2)	NC_000017.10:g.41243035dup	(Likely) pathogenic	1 lab	f54872feb0
12:32976826 PKP2 T>C	12	32976826	32976826	T	C	PKP2	c.1806+153A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32976826T>C	(Likely) benign	1 lab	f549df5bb6
19:47259780 FKRP C>T	19	47259780	47259780	C	T	FKRP	c.1073C>T	NM_024301.5	NP_077277.1:p.(Pro358Leu)	NC_000019.9:g.47259780C>T	(Likely) pathogenic	1 lab	f54a40f6e6
2:47387989 CALM2 CAAA>C	2	47387989	47388013	CAAA	C	CALM2	c.314-49_314-47del	NM_001305626.1	NP_001292555.1:p.?	NC_000002.11:g.47388011_47388013del	(Likely) benign	1 lab	f54b5ac283
15:58833938 LIPC G>A	15	58833938	58833938	G	A	LIPC	c.274-46G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58833938G>A	(Likely) benign	1 lab	f54df43dcc
21:47537797 COL6A2 G>T	21	47537797	47537797	G	T	COL6A2	c.1063G>T	NM_058175.3	NP_478055.2:p.(Gly355Cys)	NC_000021.8:g.47537797G>T	VUS	1 lab	f552683ff6
12:110221418 TRPV4 T>G	12	110221418	110221418	T	G	TRPV4	c.*8A>C	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110221418T>G	(Likely) benign	1 lab	f55329f274
X:48681476 HDAC6 A>G	X	48681476	48681476	A	G	HDAC6	c.2667A>G	NM_006044.4	NP_006035.2:p.(Glu889=)	NC_000023.10:g.48681476A>G	(Likely) benign	1 lab	f55c603318
11:77813941 ALG8 T>C	11	77813941	77813941	T	C	ALG8	c.1403A>G	NM_001007027.3	NP_001007028.1:p.(Ter468=)	NC_000011.9:g.77813941T>C	(Likely) benign	1 lab	f55cb709e2
11:68414037 MISSING A>Alt too long to show for this DUP	11	68414037	68734892	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.68414038_68734892dup	VUS	1 lab	f566cd6b52
15:73636039 HCN4 T>C	15	73636039	73636039	T	C	HCN4	c.896A>G	NM_005477.3	NP_005468.1:p.(Asn299Ser)	NC_000015.9:g.73636039T>C	(Likely) pathogenic	1 lab	f567fa50f1
6:7575561 DSP T>C	6	7575561	7575561	T	C	DSP	c.2470T>C	NM_004415.4	NP_004406.2:p.(Leu824=)	NC_000006.11:g.7575561T>C	(Likely) benign	1 lab	f568340d2b
2:105984191 FHL2 G>A	2	105984191	105984191	G	A	FHL2	c.337C>T	NM_201555.2	NP_963849.1:p.(Arg113Cys)	NC_000002.11:g.105984191G>A	VUS	1 lab	f568b1e080
1:156096376 LMNA G>A	1	156096376	156096376	G	A	LMNA	c.357-4032G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096376G>A	(Likely) benign	1 lab	f56bab9cc6
9:27055671 IFT74 A>C	9	27055671	27055671	A	C	IFT74	c.1398A>C	NM_001349928.2	NP_001336857.1:p.(Glu466Asp)	NC_000009.11:g.27055671A>C	(Likely) benign	1 lab	f56d38f711
15:45399615 DUOX2 G>T	15	45399615	45399615	G	T	DUOX2	c.1621C>A	NM_001363711.2	NP_001350640.1:p.(Arg541=)	NC_000015.9:g.45399615G>T	(Likely) benign	1 lab	f56dbd1b7b
1:63877004 ALG6 T>G	1	63877004	63877004	T	G	ALG6	c.680+2T>G	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63877004T>G	(Likely) pathogenic	1 lab	f56f52ff0d
12:125263204 SCARB1 A>C	12	125263204	125263204	A	C	SCARB1	c.*1-72T>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125263204A>C	(Likely) benign	1 lab	f574208226
4:104065609 CENPE T>C	4	104065609	104065609	T	C	CENPE	c.5024A>G	NM_001813.3	NP_001804.2:p.(His1675Arg)	NC_000004.11:g.104065609T>C	VUS	1 lab	f5774f2d86
9:65482564 MISSING A>Alt too long to show for this DUP	9	65482564	65917409	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.65482565_65917409dup	(Likely) pathogenic	1 lab	f577c4f89a
2:44066195 ABCG8 G>T	2	44066195	44066195	G	T	ABCG8				NC_000002.11:g.44066195G>T	(Likely) pathogenic	1 lab	f57b7771cc
11:65321083 LTBP3 C>T	11	65321083	65321083	C	T	LTBP3	c.865-82G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65321083C>T	(Likely) benign	1 lab	f583e515e7
1:151733379 MRPL9 C>CAAA	1	151733379	151733402	C	CAAA	MRPL9	c.589-7_589-5dup	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151733400_151733402dup	(Likely) benign	1 lab	f5848b00e2
12:125348150 SCARB1 C>T	12	125348150	125348150	C	T	SCARB1	c.117G>A	NM_005505.5	NP_005496.4:p.(Gln39=)	NC_000012.11:g.125348150C>T	(Likely) benign	1 lab	f5888bac58
16:23646821 PALB2 T>G	16	23646821	23646821	T	G	PALB2	c.1046A>C	NM_024675.4	NP_078951.2:p.(Asn349Thr)	NC_000016.9:g.23646821T>G	(Likely) benign	1 lab	f5898f6af9
1:1235825 MISSING Ref too long to show for this DEL>A	1	1235825	1666621	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.1235826_1666621del	(Likely) pathogenic	1 lab	f58aba7c1b
9:113128844 SVEP1 G>GAA	9	113128844	113128858	G	GAA	SVEP1	c.10695-6_10695-5dup	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113128857_113128858dup	(Likely) benign	1 lab	f58b84c8c2
X:8142342 MISSING Ref too long to show for this DEL>A	X	8142342	8742959	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.8142348_8742959del	(Likely) pathogenic	1 lab	f5900c0684
15:73617312 HCN4 G>A	15	73617312	73617312	G	A	HCN4	c.1962C>T	NM_005477.3	NP_005468.1:p.(Asp654=)	NC_000015.9:g.73617312G>A	(Likely) benign	1 lab	f5926ebb7b
14:102901201 TECPR2 A>G	14	102901201	102901201	A	G	TECPR2	c.2047A>G	NM_014844.5	NP_055659.2:p.(Ile683Val)	NC_000014.8:g.102901201A>G	(Likely) benign	1 lab	f59529a87a
1:89525966 GBP1 T>C	1	89525966	89525966	T	C	GBP1	c.232A>G	NM_002053.3	NP_002044.2:p.(Ile78Val)	NC_000001.10:g.89525966T>C	(Likely) benign	1 lab	f597287260
2:21226218 APOB G>GA	2	21226218	21226229	G	GA	APOB	c.12088-13dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226229dup	(Likely) benign	1 lab	f5974f0b33
1:21903947 ALPL G>A	1	21903947	21903947	G	A	ALPL	c.1381G>A	NM_000478.6	NP_000469.3:p.(Val461Ile)	NC_000001.10:g.21903947G>A	(Likely) benign	1 lab	f59782b0fe
3:38601758 SCN5A G>A	3	38601758	38601758	G	A	SCN5A	c.4125C>T	NM_198056.3	NP_932173.1:p.(Tyr1375=)	NC_000003.11:g.38601758G>A	(Likely) benign	1 lab	f598ce1263
X:70443678 GJB1 G>A	X	70443678	70443678	G	A	GJB1	c.121G>A	NM_000166.6	NP_000157.1:p.(Glu41Lys)	NC_000023.10:g.70443678G>A	(Likely) pathogenic	1 lab	f59e76a9eb
11:47356116 MYBPC3 C>CT	11	47356116	47356129	C	CT	MYBPC3	c.2905+476dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356129dup	(Likely) benign	1 lab	f5a57278b5
15:73615369 HCN4 C>T	15	73615369	73615369	C	T	HCN4	c.3065G>A	NM_005477.3	NP_005468.1:p.(Arg1022Gln)	NC_000015.9:g.73615369C>T	VUS	1 lab	f5a661731b
11:47353187 MYBPC3 T>C	11	47353187	47353187	T	C	MYBPC3	c.*107A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353187T>C	(Likely) benign	1 lab	f76ed5c5bb
9:137704152 COL5A1 G>A	9	137704152	137704152	G	A	COL5A1	c.3691-143G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137704152G>A	(Likely) benign	1 lab	f5a6aa5795
9:107593243 ABCA1 T>C	9	107593243	107593243	T	C	ABCA1	c.1855A>G	NM_005502.4	NP_005493.2:p.(Met619Val)	NC_000009.11:g.107593243T>C	(Likely) benign	1 lab	f5aabcaadb
16:46772005 MYLK3 T>TG	16	46772005	46772011	T	TG	MYLK3	c.618dup	NM_182493.3	NP_872299.2:p.(Ile207HisfsTer9)	NC_000016.9:g.46772011dup	VUS	1 lab	f5adf1f033
2:179613637 TTN A>G	2	179613637	179613637	A	G	TTN	c.13490T>C	NM_133379.5	NP_596870.2:p.(Leu4497Ser)	NC_000002.11:g.179613637A>G	VUS	1 lab	f5ae7023cf
12:9010671 A2ML1 G>A	12	9010671	9010671	G	A	A2ML1	c.3237G>A	NM_144670.6	NP_653271.3:p.(Val1079=)	NC_000012.11:g.9010671G>A	(Likely) benign	1 lab	f652766a2d
3:58128983 FLNB G>A	3	58128983	58128983	G	A	FLNB	c.5378-217G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58128983G>A	(Likely) benign	1 lab	f5b4c9e0f3
6:7581706 DSP C>T	6	7581706	7581706	C	T	DSP	c.5283C>T	NM_004415.4	NP_004406.2:p.(Asn1761=)	NC_000006.11:g.7581706C>T	(Likely) benign	1 lab	f5b4ff16c0
15:58840567 LIPC G>C	15	58840567	58840567	G	C	LIPC	c.847G>C	NM_000236.3	NP_000227.2:p.(Val283Leu)	NC_000015.9:g.58840567G>C	VUS	1 lab	f5b535bd5d
6:66112510 EYS T>TA	6	66112510	66112517	T	TA	EYS	c.1057-13dup	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.66112517dup	(Likely) benign	1 lab	f5b713b7ad
12:2788594 CACNA1C T>TCC	12	2788594	2788596	T	TCC	CACNA1C	c.5092-15_5092-14dup	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2788595_2788596dup	(Likely) benign	1 lab	f5b8bda964
2:220505234 SLC4A3 G>A	2	220505234	220505234	G	A	SLC4A3	c.3441G>A	NM_001326559.2	NP_001313488.2:p.(Thr1147=)	NC_000002.11:g.220505234G>A	(Likely) benign	1 lab	f5badcc273
16:57003829 CETP G>A	16	57003829	57003829	G	A	CETP	c.443G>A	NM_000078.3	NP_000069.2:p.(Cys148Tyr)	NC_000016.9:g.57003829G>A	VUS	1 lab	f5bcad086d
5:11385276 CTNND2 C>A	5	11385276	11385276	C	A	CTNND2	c.678G>T	NM_001332.4	NP_001323.1:p.(Pro226=)	NC_000005.9:g.11385276C>A	(Likely) benign	1 lab	f5c08b7f7e
1:228345912 GJC2 CGAG>C	1	228345912	228345933	CGAG	C	GJC2	c.472_474del	NM_020435.4	NP_065168.2:p.(Glu158del)	NC_000001.10:g.228345931_228345933del	(Likely) benign	1 lab	f5c52f0c4a
1:236900386 ACTN2 G>C	1	236900386	236900386	G	C	ACTN2	c.784-36G>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900386G>C	(Likely) benign	1 lab	f5c6227b93
11:1016972 MUC6 G>A	11	1016972	1016972	G	A	MUC6	c.5829C>T	NM_005961.3	NP_005952.2:p.(Thr1943=)	NC_000011.9:g.1016972G>A	(Likely) benign	1 lab	f6f09733fb
19:57997504 MISSING Ref too long to show for this DEL>C	19	57997504	58021375	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.57997509_58021375del	VUS	1 lab	f5c6b3d127
9:107592970 ABCA1 C>CA	9	107592970	107592981	C	CA	ABCA1	c.1892+235dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107592981dup	(Likely) benign	1 lab	f5cb1d1f4a
19:11215861 LDLR C>T	19	11215861	11215861	C	T	LDLR	c.314-35C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215861C>T	(Likely) benign	1 lab	f5ce66d806
19:11238399 LDLR G>A	19	11238399	11238399	G	A	LDLR	c.2312-285G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238399G>A	(Likely) benign	1 lab	f5d09ce508
15:45442896 DUOX1 T>C	15	45442896	45442896	T	C	DUOX1	c.2885T>C	NM_017434.5	NP_059130.2:p.(Ile962Thr)	NC_000015.9:g.45442896T>C	(Likely) benign	1 lab	f5d0e5ae8e
19:11221361 LDLR G>T	19	11221361	11221361	G	T	LDLR	c.974G>T	NM_000527.5	NP_000518.1:p.(Cys325Phe)	NC_000019.9:g.11221361G>T	(Likely) pathogenic	1 lab	f5d9de0d29
17:7906486 GUCY2D C>T	17	7906486	7906486	C	T	GUCY2D	c.121C>T	NM_000180.4	NP_000171.1:p.(Leu41Phe)	NC_000017.10:g.7906486C>T	(Likely) benign	1 lab	f5dd1e0a30
1:103540158 COL11A1 T>C	1	103540158	103540158	T	C	COL11A1	c.651+16A>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103540158T>C	(Likely) benign	1 lab	f5dd411dc0
2:44079751 ABCG8 C>T	2	44079751	44079751	C	T	ABCG8	c.708C>T	NM_022437.3	NP_071882.1:p.(Leu236=)	NC_000002.11:g.44079751C>T	(Likely) benign	1 lab	f5dec527d5
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	f5e11283bf
9:3879414 GLIS3 CAG>C	9	3879414	3879417	CAG	C	GLIS3	c.2297+11_2297+12del	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.3879416_3879417del	(Likely) benign	1 lab	f5e2110286
X:152226189 PNMA3 G>A	X	152226189	152226189	G	A	PNMA3	c.777G>A	NM_013364.6	NP_037496.4:p.(Glu259=)	NC_000023.10:g.152226189G>A	(Likely) benign	1 lab	f5e225eedf
1:25870167 LDLRAP1 G>GGCC	1	25870167	25870170	G	GGCC	LDLRAP1	c.-21_-20insCGC	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870169_25870170insCGC	VUS	1 lab	f5e40dbc77
19:11224702 LDLR A>T	19	11224702	11224702	A	T	LDLR	c.1586+264A>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224702A>T	VUS	1 lab	f5e60fb412
9:107586801 ABCA1 G>A	9	107586801	107586801	G	A	ABCA1	c.2601C>T	NM_005502.4	NP_005493.2:p.(Gly867=)	NC_000009.11:g.107586801G>A	VUS	1 lab	f5e6383ff2
X:113854085 HTR2C A>Alt too long to show for this DUP	X	113854085	113953972	A	Alt too long to show for this DUP	HTR2C	c.-80+5747_-79-7295dup	NM_000868.4	NP_000859.2:p.?	NC_000023.10:g.113854086_113953972dup	VUS	1 lab	f5e8cd09b6
8:1844623 ARHGEF10 C>CT	8	1844623	1844633	C	CT	ARHGEF10	c.1632+18dup	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1844633dup	(Likely) benign	1 lab	f5f2e43f77
7:94051198 COL1A2 G>A	7	94051198	94051198	G	A	COL1A2	c.2350-13G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94051198G>A	(Likely) benign	1 lab	f5f49315b2
16:2130197 TSC2 C>T	16	2130197	2130197	C	T	TSC2	c.3429C>T	NM_000548.5	NP_000539.2:p.(Asp1143=)	NC_000016.9:g.2130197C>T	(Likely) benign	1 lab	f5f65c33d8
15:28090088 OCA2 A>C	15	28090088	28090088	A	C	OCA2	c.2432+17T>G	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28090088A>C	(Likely) benign	1 lab	f837b221a0
14:105239869 AKT1 G>A	14	105239869	105239869	G	A	AKT1	c.751C>T	NM_005163.2	NP_005154.2:p.(Arg251Cys)	NC_000014.8:g.105239869G>A	VUS	1 lab	f5fb2de604
2:61719490 XPO1 C>T	2	61719490	61719490	C	T	XPO1	c.1693G>A	NM_003400.4	NP_003391.1:p.(Val565Ile)	NC_000002.11:g.61719490C>T	VUS	1 lab	f60044056b
11:687941 DEAF1 C>A	11	687941	687941	C	A	DEAF1	c.634G>T	NM_001293634.1	NP_001280563.1:p.(Gly212Cys)	NC_000011.9:g.687941C>A	(Likely) pathogenic	1 lab	f611074bbc
2:179440531 TTN C>T	2	179440531	179440531	C	T	TTN	c.70328G>A	NM_001267550.2	NP_001254479.2:p.(Arg23443Gln)	NC_000002.11:g.179440531C>T	VUS	1 lab	f61165a67b
1:85039998 CTBS CGCAGCGCCA>C	1	85039998	85040032	CGCAGCGCCA	C	CTBS	c.92_100del	NM_004388.3	NP_004379.1:p.(Leu31_Leu33del)	NC_000001.10:g.85040024_85040032del	(Likely) benign	1 lab	f6120ce76f
19:11221360 LDLR T>C	19	11221360	11221360	T	C	LDLR	c.973T>C	NM_000527.5	NP_000518.1:p.(Cys325Arg)	NC_000019.9:g.11221360T>C	(Likely) pathogenic	1 lab	f615f284a5
2:21235007 APOB T>C	2	21235007	21235007	T	C	APOB	c.4733A>G	NM_000384.3	NP_000375.3:p.(Tyr1578Cys)	NC_000002.11:g.21235007T>C	VUS	1 lab	f6199afc31
14:23870204 MYH6 G>T	14	23870204	23870204	G	T	MYH6	c.1142-18C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23870204G>T	(Likely) benign	1 lab	f61c0ae45b
10:71060624 HK1 A>C	10	71060624	71060624	A	C	HK1	c.27+7A>C	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71060624A>C	(Likely) benign	1 lab	f620092477
5:77298757 AP3B1 C>T	5	77298757	77298757	C	T	AP3B1	c.3107G>A	NM_001271769.2	NP_001258698.1:p.(Arg1036Gln)	NC_000005.9:g.77298757C>T	VUS	1 lab	f6209a72aa
3:193382651 OPA1 T>C	3	193382651	193382651	T	C	OPA1	c.2662-18T>C	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193382651T>C	(Likely) benign	1 lab	f620beba17
2:179477735 TTN A>G	2	179477735	179477735	A	G	TTN	c.49713T>C	NM_001267550.2	NP_001254479.2:p.(Asn16571=)	NC_000002.11:g.179477735A>G	(Likely) benign	1 lab	f62420b66a
9:107563269 ABCA1 T>C	9	107563269	107563269	T	C	ABCA1	c.4699-404A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563269T>C	(Likely) benign	1 lab	f624782b78
19:45412129 APOE C>T	19	45412129	45412129	C	T	APOE	c.654C>T	NM_001302688.2	NP_001289617.1:p.(Leu218=)	NC_000019.9:g.45412129C>T	(Likely) benign	1 lab	f624ec1b49
14:21450622 MISSING T>Alt too long to show for this DUP	14	21450622	22033302	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.21450623_22033302dup	VUS	1 lab	f6290f7e3a
3:71019932 FOXP1 C>CATGTTTTTAATAAGGGAAGGGTTACTGT	3	71019932	71019960	C	CATGTTTTTAATAAGGGAAGGGTTACTGT	FOXP1	c.1653-4_1676dup	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71019933_71019960dup	(Likely) pathogenic	1 lab	f629c667ad
7:100855823 PLOD3 G>A	7	100855823	100855823	G	A	PLOD3	c.993C>T	NM_001084.5	NP_001075.1:p.(Phe331=)	NC_000007.13:g.100855823G>A	(Likely) benign	1 lab	f62b2a1624
15:23685228 GOLGA6L2 T>C	15	23685228	23685228	T	C	GOLGA6L2	c.2394A>G	NM_001304388.2	NP_001291317.1:p.(Gly798=)	NC_000015.9:g.23685228T>C	(Likely) benign	1 lab	f62b77236f
7:151438851 MISSING G>Alt too long to show for this DUP	7	151438851	151728317	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151438853_151728317dup	VUS	1 lab	f62d6ccf21
16:68849399 CDH1 CATT>C	16	68849399	68849402	CATT	C	CDH1	c.1321-18_1321-16del	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68849400_68849402del	VUS	1 lab	f62d917950
9:34637580 SIGMAR1 G>A	9	34637580	34637580	G	A	SIGMAR1	c.115C>T	NM_001282208.2	NP_001269137.1:p.(Arg39Cys)	NC_000009.11:g.34637580G>A	VUS	1 lab	f62e416bb0
2:240066401 HDAC4 G>A	2	240066401	240066401	G	A	HDAC4	c.743C>T	NM_006037.4	NP_006028.2:p.(Pro248Leu)	NC_000002.11:g.240066401G>A	(Likely) pathogenic	1 lab	f62efe7c3d
1:156837963 NTRK1 G>T	1	156837963	156837963	G	T	NTRK1	c.496G>T	NM_002529.4	NP_002520.2:p.(Gly166Ter)	NC_000001.10:g.156837963G>T	(Likely) pathogenic	1 lab	f63128eb7d
18:7037598 LAMA1 G>A	18	7037598	7037598	G	A	LAMA1	c.1716C>T	NM_005559.4	NP_005550.2:p.(Pro572=)	NC_000018.9:g.7037598G>A	(Likely) benign	1 lab	f632f6bf69
1:112329662 KCND3 G>T	1	112329662	112329662	G	T	KCND3	c.1173C>A	NM_004980.5	NP_004971.2:p.(Gly391=)	NC_000001.10:g.112329662G>T	(Likely) benign	1 lab	f633318693
11:74125485 MISSING Ref too long to show for this DEL>A	11	74125485	74167462	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.74125486_74167462del	VUS	1 lab	f634925796
1:94576926 ABCA4 G>A	1	94576926	94576926	G	A	ABCA4	c.302+68C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94576926G>A	(Likely) pathogenic	1 lab	f637ee8fb2
12:125299257 SCARB1 G>T	12	125299257	125299257	G	T	SCARB1	c.426+262C>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299257G>T	(Likely) benign	1 lab	f639097086
4:103265782 SLC39A8 A>G	4	103265782	103265782	A	G	SLC39A8	c.38T>C	NM_022154.5	NP_071437.3:p.(Leu13Pro)	NC_000004.11:g.103265782A>G	VUS	1 lab	f6396172e4
2:220075091 ABCB6 G>A	2	220075091	220075091	G	A	ABCB6	c.2351+12C>T	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220075091G>A	(Likely) benign	1 lab	f639a26fd9
9:32543947 TOPORS C>A	9	32543947	32543947	C	A	TOPORS	c.576G>T	NM_005802.5	NP_005793.2:p.(Val192=)	NC_000009.11:g.32543947C>A	(Likely) benign	1 lab	f63b3426e8
11:62383715 B3GAT3 G>C	11	62383715	62383715	G	C	B3GAT3	c.910-3C>G	NM_001288723.2	NP_001275652.1:p.?	NC_000011.9:g.62383715G>C	(Likely) benign	1 lab	f6408d067e
1:33246707 YARS1 T>A	1	33246707	33246707	T	A	YARS1	c.1082A>T	NM_003680.4	NP_003671.1:p.(Glu361Val)	NC_000001.10:g.33246707T>A	(Likely) benign	1 lab	f6456b9b14
17:59793364 BRIP1 G>A	17	59793364	59793364	G	A	BRIP1	c.2440C>T	NM_032043.3	NP_114432.2:p.(Arg814Cys)	NC_000017.10:g.59793364G>A	(Likely) benign	1 lab	f6461ff430
8:24814008 NEFL G>T	8	24814008	24814008	G	T	NEFL	c.22C>A	NM_006158.5	NP_006149.2:p.(Pro8Thr)	NC_000008.10:g.24814008G>T	(Likely) pathogenic	1 lab	f64775dad1
2:21242753 APOB G>A	2	21242753	21242753	G	A	APOB	c.2841C>T	NM_000384.3	NP_000375.3:p.(Thr947=)	NC_000002.11:g.21242753G>A	(Likely) benign	1 lab	f6486bb4e3
16:1021266 LMF1 G>A	16	1021266	1021266	G	A	LMF1	c.-362+9879C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021266G>A	(Likely) benign	1 lab	f64bc67370
11:86662486 FZD4 CA>C	11	86662486	86662488	CA	C	FZD4	c.1311del	NM_012193.4	NP_036325.2:p.(Ile437MetfsTer15)	NC_000011.9:g.86662488del	(Likely) pathogenic	1 lab	f64facfdfe
14:76198698 TTLL5 G>A	14	76198698	76198698	G	A	TTLL5	c.1060G>A	NM_015072.5	NP_055887.3:p.(Val354Met)	NC_000014.8:g.76198698G>A	VUS	1 lab	f6522bd1a0
X:102974184 GLRA4 A>T	X	102974184	102974184	A	T	GLRA4	n.1026T>A	NR_164162.1		NC_000023.10:g.102974184A>T	VUS	1 lab	fa22a50955
19:50762388 MYH14 C>A	19	50762388	50762388	C	A	MYH14	c.2233-13C>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50762388C>A	(Likely) benign	1 lab	f653b659b7
5:54327191 MISSING G>Alt too long to show for this DUP	5	54327191	54371045	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.54327192_54371045dup	VUS	1 lab	f653dc7ab4
8:59514098 NSMAF G>A	8	59514098	59514098	G	A	NSMAF	c.1126-4C>T	NM_003580.4	NP_003571.2:p.?	NC_000008.10:g.59514098G>A	(Likely) benign	1 lab	f6559591a3
X:73811695 RLIM A>G	X	73811695	73811695	A	G	RLIM	c.1455T>C	NM_183353.3	NP_899196.1:p.(Ser485=)	NC_000023.10:g.73811695A>G	(Likely) benign	1 lab	f658f2fca4
22:33700301 LARGE1 G>A	22	33700301	33700301	G	A	LARGE1	c.1644C>T	NM_004737.7	NP_004728.1:p.(Asn548=)	NC_000022.10:g.33700301G>A	(Likely) benign	1 lab	f65cf97286
6:70993507 COL9A1 A>G	6	70993507	70993507	A	G	COL9A1	c.713T>C	NM_001851.6	NP_001842.3:p.(Met238Thr)	NC_000006.11:g.70993507A>G	VUS	1 lab	f6777f025a
11:10327875 ADM G>C	11	10327875	10327875	G	C	ADM	c.249-4G>C	NM_001124.3	NP_001115.1:p.?	NC_000011.9:g.10327875G>C	(Likely) benign	1 lab	f65f0f5866
X:70444092 GJB1 T>C	X	70444092	70444092	T	C	GJB1	c.535T>C	NM_000166.6	NP_000157.1:p.(Cys179Arg)	NC_000023.10:g.70444092T>C	(Likely) pathogenic	1 lab	f660db9abe
X:70443584 GJB1 G>T	X	70443584	70443584	G	T	GJB1	c.27G>T	NM_000166.6	NP_000157.1:p.(Leu9Phe)	NC_000023.10:g.70443584G>T	(Likely) pathogenic	1 lab	f6640e7a3e
15:31362087 TRPM1 A>C	15	31362087	31362087	A	C	TRPM1	c.360T>G	NM_001252030.2	NP_001238959.1:p.(Tyr120Ter)	NC_000015.9:g.31362087A>C	VUS	1 lab	f6650ccf8c
19:11221466 LDLR T>G	19	11221466	11221466	T	G	LDLR	c.1060+19T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221466T>G	(Likely) benign	1 lab	f6666ce94e
19:49714025 TRPM4 G>C	19	49714025	49714025	G	C	TRPM4	c.3387G>C	NM_017636.4	NP_060106.2:p.(Lys1129Asn)	NC_000019.9:g.49714025G>C	VUS	1 lab	f66900585f
11:47370114 MYBPC3 G>GCGTCAGGGGA	11	47370114	47370125	G	GCGTCAGGGGA	MYBPC3	c.655-32_655-23dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370116_47370125dup	(Likely) benign	1 lab	f66f9b01e7
21:32955372 MISSING C>Alt too long to show for this DUP	21	32955372	33033677	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.32955374_33033677dup	VUS	1 lab	f670a35796
18:19321540 MIB1 C>T	18	19321540	19321540	C	T	MIB1	c.-5C>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19321540C>T	(Likely) benign	1 lab	f672029b40
8:87591316 CNGB3 G>A	8	87591316	87591316	G	A	CNGB3	c.1928+18C>T	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87591316G>A	(Likely) benign	1 lab	f673132bfb
2:220150730 DNAJB2 G>A	2	220150730	220150730	G	A	DNAJB2	c.*1021G>A	NM_006736.6	NP_006727.2:p.?	NC_000002.11:g.220150730G>A	(Likely) benign	1 lab	f6759cc909
1:12061459 MFN2 T>G	1	12061459	12061459	T	G	MFN2	c.818T>G	NM_014874.4	NP_055689.1:p.(Val273Gly)	NC_000001.10:g.12061459T>G	(Likely) pathogenic	1 lab	f678bfcdcc
6:32010572 TNXB G>T	6	32010572	32010572	G	T	TNXB	c.11956C>A	NM_019105.8	NP_061978.6:p.(Leu3986Ile)	NC_000006.11:g.32010572G>T	(Likely) benign	1 lab	f68083de8a
14:64588837 SYNE2 G>A	14	64588837	64588837	G	A	SYNE2	c.13266G>A	NM_182914.3	NP_878918.2:p.(Gln4422=)	NC_000014.8:g.64588837G>A	(Likely) benign	1 lab	f682516a8f
8:68044286 CSPP1 C>G	8	68044286	68044286	C	G	CSPP1	c.1717C>G	NM_001363131.2	NP_001350060.1:p.(Gln573Glu)	NC_000008.10:g.68044286C>G	VUS	1 lab	f68277fc0e
12:48376910 COL2A1 C>A	12	48376910	48376910	C	A	COL2A1	c.2060G>T	NM_001844.5	NP_001835.3:p.(Gly687Val)	NC_000012.11:g.48376910C>A	(Likely) pathogenic	1 lab	f682926224
2:21229214 APOB T>C	2	21229214	21229214	T	C	APOB	c.10526A>G	NM_000384.3	NP_000375.3:p.(Tyr3509Cys)	NC_000002.11:g.21229214T>C	VUS	1 lab	f682e0b9cb
8:19819744 LPL G>A	8	19819744	19819744	G	A	LPL	c.1427+14G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819744G>A	(Likely) benign	1 lab	f68395c3d2
19:11216100 LDLR G>A	19	11216100	11216100	G	A	LDLR	c.518G>A	NM_000527.5	NP_000518.1:p.(Cys173Tyr)	NC_000019.9:g.11216100G>A	(Likely) pathogenic	1 lab	f6841da7fc
6:112454560 LAMA4 T>G	6	112454560	112454560	T	G	LAMA4	c.3666A>C	NM_002290.5	NP_002281.3:p.(Glu1222Asp)	NC_000006.11:g.112454560T>G	VUS	1 lab	f686fd23a8
2:189860348 COL3A1 C>A	2	189860348	189860348	C	A	COL3A1	c.1510-70C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860348C>A	(Likely) benign	1 lab	f689f10e25
1:150531653 ADAMTSL4 G>A	1	150531653	150531653	G	A	ADAMTSL4	c.2763+12G>A	NM_019032.6	NP_061905.2:p.?	NC_000001.10:g.150531653G>A	(Likely) benign	1 lab	f68a4a8158
16:29580019 MISSING Ref too long to show for this DEL>T	16	29580019	30320002	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29580021_30320002del	(Likely) pathogenic	1 lab	f68b5fe5a8
1:12049401 MFN2 G>GT	1	12049401	12049402	G	GT	MFN2	c.175+2dup	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12049402dup	VUS	1 lab	f68e1436d8
1:201328340 TNNT2 A>G	1	201328340	201328340	A	G	TNNT2	c.865T>C	NM_001001430.3	NP_001001430.1:p.(Ter289GlnextTer42)	NC_000001.10:g.201328340A>G	VUS	1 lab	f68eef9b64
14:77919587 VIPAS39 T>C	14	77919587	77919587	T	C	VIPAS39	c.196+55A>G	NM_001193314.2	NP_001180243.1:p.?	NC_000014.8:g.77919587T>C	(Likely) benign	1 lab	f68f22a8a1
19:11236180 LDLR C>A	19	11236180	11236180	C	A	LDLR	c.2311+2160C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11236180C>A	(Likely) benign	1 lab	f694993d14
6:56420431 DST T>C	6	56420431	56420431	T	C	DST	c.8491A>G	NM_001144769.5	NP_001138241.1:p.(Thr2831Ala)	NC_000006.11:g.56420431T>C	VUS	1 lab	f695bebdbf
7:148523687 EZH2 G>C	7	148523687	148523687	G	C	EZH2				NC_000007.13:g.148523687G>C	VUS	1 lab	bc2e0db583
1:55518445 PCSK9 G>A	1	55518445	55518445	G	A	PCSK9	c.780G>A	NM_174936.4	NP_777596.2:p.(Thr260=)	NC_000001.10:g.55518445G>A	(Likely) benign	1 lab	f698f9c805
7:128494152 FLNC C>T	7	128494152	128494152	C	T	FLNC	c.6609C>T	NM_001458.5	NP_001449.3:p.(Arg2203=)	NC_000007.13:g.128494152C>T	(Likely) benign	1 lab	f6991ea8b8
7:81588636 CACNA2D1 G>A	7	81588636	81588636	G	A	CACNA2D1	c.3114C>T	NM_000722.4	NP_000713.2:p.(Pro1038=)	NC_000007.13:g.81588636G>A	(Likely) benign	1 lab	f699b02c97
14:23873562 MYH6 G>A	14	23873562	23873562	G	A	MYH6	c.678C>T	NM_002471.4	NP_002462.2:p.(Pro226=)	NC_000014.8:g.23873562G>A	(Likely) benign	1 lab	f699f0e0d4
8:19805929 LPL A>G	8	19805929	19805929	A	G	LPL	c.249+78A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805929A>G	(Likely) benign	1 lab	f69a3ad0b4
16:15850404 MYH11 G>C	16	15850404	15850404	G	C	MYH11	c.1576-33C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15850404G>C	(Likely) benign	1 lab	f69a540cba
2:189917568 COL5A2 A>G	2	189917568	189917568	A	G	COL5A2	c.2662-40T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917568A>G	(Likely) benign	1 lab	f69b52447f
9:35699890 TLN1 A>G	9	35699890	35699890	A	G	TLN1	c.6768+81T>C	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35699890A>G	(Likely) benign	1 lab	f69e563e38
X:153583576 FLNA C>T	X	153583576	153583576	C	T	FLNA	c.4946-136G>A	NM_001456.4	NP_001447.2:p.?	NC_000023.10:g.153583576C>T	(Likely) benign	1 lab	f6a013e1ac
5:76853696 MISSING Ref too long to show for this DEL>G	5	76853696	77396401	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.76853698_77396401del	VUS	1 lab	f6a364940b
15:72021002 THSD4 C>T	15	72021002	72021002	C	T	THSD4	c.1472C>T	NM_024817.2	NP_079093.2:p.(Ser491Leu)	NC_000015.9:g.72021002C>T	VUS	1 lab	f6a7f8ce3a
17:44060183 MAPT Ref too long to show for this DEL>A	17	44060183	44074824	Ref too long to show for this DEL	A	MAPT	c.287-46_1998+794del	NM_001377265.1	NP_001364194.1:p.?	NC_000017.10:g.44060186_44074824del	VUS	1 lab	f6a84c61b6
4:15569097 CC2D2A C>G	4	15569097	15569097	C	G	CC2D2A	c.3280C>G	NM_001080522.2	NP_001073991.2:p.(Leu1094Val)	NC_000004.11:g.15569097C>G	(Likely) benign	1 lab	f6a93c530f
12:48376694 COL2A1 G>A	12	48376694	48376694	G	A	COL2A1	c.2130C>T	NM_001844.5	NP_001835.3:p.(Pro710=)	NC_000012.11:g.48376694G>A	(Likely) benign	1 lab	f6ae1283b5
7:81837694 CACNA2D1 Ref too long to show for this DEL>T	7	81837694	81880501	Ref too long to show for this DEL	T	CACNA2D1	c.295-80575_295-37770del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81837696_81880501del	VUS	1 lab	f6b071a45f
12:21377760 SLCO1B1 T>C	12	21377760	21377760	T	C	SLCO1B1	c.1852T>C	NM_006446.5	NP_006437.3:p.(Ser618Pro)	NC_000012.11:g.21377760T>C	(Likely) benign	1 lab	f6b0aacb09
9:101872891 TGFBR1 C>T	9	101872891	101872891	C	T	TGFBR1	c.97+5307C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101872891C>T	(Likely) benign	1 lab	f6b4d8cc26
3:49692105 BSN C>A	3	49692105	49692105	C	A	BSN	c.5116C>A	NM_003458.4	NP_003449.2:p.(Arg1706=)	NC_000003.11:g.49692105C>A	(Likely) benign	1 lab	f6b596992d
5:88100447 MEF2C G>A	5	88100447	88100447	G	A	MEF2C	c.226C>T	NM_001364330.2	NP_001351259.1:p.(His76Tyr)	NC_000005.9:g.88100447G>A	VUS	1 lab	f6b6661122
Y:15448217 UTY T>TA	Y	15448217	15448229	T	TA	UTY	c.2062-3dup	NM_001258249.2	NP_001245178.1:p.?	NC_000024.9:g.15448229dup	(Likely) benign	1 lab	f6ba3a8c8c
2:44047179 ABCG5 G>C	2	44047179	44047179	G	C	ABCG5	c.1524C>G	NM_022436.3	NP_071881.1:p.(Ala508=)	NC_000002.11:g.44047179G>C	(Likely) benign	1 lab	f6bfd65369
10:69366597 CTNNA3 C>A	10	69366597	69366597	C	A	CTNNA3	c.292+18G>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69366597C>A	(Likely) benign	1 lab	f76f0486ba
19:11238761 LDLR G>A	19	11238761	11238761	G	A	LDLR	c.2389G>A	NM_000527.5	NP_000518.1:p.(Val797Met)	NC_000019.9:g.11238761G>A	(Likely) pathogenic	1 lab	f6d865c9e1
2:179606613 TTN C>T	2	179606613	179606613	C	T	TTN	c.11347G>A	NM_001267550.2	NP_001254479.2:p.(Gly3783Arg)	NC_000002.11:g.179606613C>T	VUS	1 lab	f6c473fceb
1:218609319 TGFB2 T>C	1	218609319	218609319	T	C	TGFB2	c.846T>C	NM_001135599.4	NP_001129071.1:p.(Asp282=)	NC_000001.10:g.218609319T>C	(Likely) benign	1 lab	f6c5fd871a
9:137710490 COL5A1 G>A	9	137710490	137710490	G	A	COL5A1	c.4231-12G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710490G>A	(Likely) benign	1 lab	f6d2a5a3ee
8:133899051 TG G>A	8	133899051	133899051	G	A	TG	c.1434G>A	NM_003235.5	NP_003226.4:p.(Val478=)	NC_000008.10:g.133899051G>A	(Likely) benign	1 lab	f6d5a6f972
3:38597237 SCN5A G>A	3	38597237	38597237	G	A	SCN5A	c.4452C>T	NM_198056.3	NP_932173.1:p.(Asp1484=)	NC_000003.11:g.38597237G>A	(Likely) benign	1 lab	f6db74e086
19:51857703 ETFB C>G	19	51857703	51857703	C	G	ETFB	c.190G>C	NM_001014763.1	NP_001014763.1:p.(Glu64Gln)	NC_000019.9:g.51857703C>G	VUS	1 lab	f6dd5e9311
2:179598563 TTN C>T	2	179598563	179598563	C	T	TTN	c.15553G>A	NM_001267550.2	NP_001254479.2:p.(Val5185Ile)	NC_000002.11:g.179598563C>T	VUS	1 lab	f6dd7583e9
5:177031444 B4GALT7 C>T	5	177031444	177031444	C	T	B4GALT7	c.315C>T	NM_007255.3	NP_009186.1:p.(Phe105=)	NC_000005.9:g.177031444C>T	(Likely) benign	1 lab	f6de10ee12
19:49713959 TRPM4 C>G	19	49713959	49713959	C	G	TRPM4	c.3329-8C>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49713959C>G	(Likely) benign	1 lab	f6dfb411ce
2:27535123 MPV17 A>C	2	27535123	27535123	A	C	MPV17	c.376-9T>G	NM_002437.5	NP_002428.1:p.?	NC_000002.11:g.27535123A>C	(Likely) pathogenic	1 lab	f6e2d7b596
19:50785019 MYH14 C>T	19	50785019	50785019	C	T	MYH14	c.4336C>T	NM_024729.4	NP_079005.3:p.(Leu1446=)	NC_000019.9:g.50785019C>T	(Likely) benign	1 lab	f6ea7d0ace
14:88904274 SPATA7 G>A	14	88904274	88904274	G	A	SPATA7	c.1308G>A	NM_018418.5	NP_060888.2:p.(Leu436=)	NC_000014.8:g.88904274G>A	(Likely) benign	1 lab	f6ee9d5569
9:137676907 COL5A1 G>C	9	137676907	137676907	G	C	COL5A1	c.2557G>C	NM_000093.5	NP_000084.3:p.(Gly853Arg)	NC_000009.11:g.137676907G>C	(Likely) pathogenic	1 lab	f6ef97e7db
7:37298800 ELMO1 C>T	7	37298800	37298800	C	T	ELMO1	c.399G>A	NM_001206482.2	NP_001193411.1:p.(Val133=)	NC_000007.13:g.37298800C>T	(Likely) benign	1 lab	f6f1adcfd3
10:73450353 CDH23 C>CA	10	73450353	73450354	C	CA	CDH23	c.2176+13dup	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73450354dup	(Likely) benign	1 lab	f6f1fb4de4
19:11216108 LDLR G>A	19	11216108	11216108	G	A	LDLR	c.526G>A	NM_000527.5	NP_000518.1:p.(Gly176Ser)	NC_000019.9:g.11216108G>A	VUS	1 lab	f6f8248fd8
20:10629757 JAG1 T>TA	20	10629757	10629763	T	TA	JAG1	c.1349-3dup	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10629763dup	(Likely) benign	1 lab	f6f8975a7e
15:48733555 FBN1 C>A	15	48733555	48733555	C	A	FBN1	c.6163+363G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48733555C>A	(Likely) benign	1 lab	f6fbf8a99d
1:878331 SAMD11 C>T	1	878331	878331	C	T	SAMD11	c.1457C>T	NM_152486.4	NP_689699.3:p.(Pro486Leu)	NC_000001.10:g.878331C>T	(Likely) benign	1 lab	f7015677e0
2:85536128 TCF7L1 CTCTT>C	2	85536128	85536136	CTCTT	C	TCF7L1	c.1334-19_1334-16del	NM_031283.3	NP_112573.1:p.?	NC_000002.11:g.85536133_85536136del	(Likely) benign	1 lab	f702def5f7
2:44047181 ABCG5 C>T	2	44047181	44047181	C	T	ABCG5	c.1522G>A	NM_022436.3	NP_071881.1:p.(Ala508Thr)	NC_000002.11:g.44047181C>T	VUS	1 lab	f707c87745
13:42513459 MISSING A>Alt too long to show for this DUP	13	42513459	42733459	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.42513460_42733459dup	VUS	1 lab	f70f9ff827
1:150526044 ADAMTSL4 G>C	1	150526044	150526044	G	C	ADAMTSL4	c.577G>C	NM_019032.6	NP_061905.2:p.(Ala193Pro)	NC_000001.10:g.150526044G>C	(Likely) benign	1 lab	f715e45acd
16:53644860 RPGRIP1L T>G	16	53644860	53644860	T	G	RPGRIP1L	c.3563+19A>C	NM_001308334.3	NP_001295263.1:p.?	NC_000016.9:g.53644860T>G	(Likely) benign	1 lab	f718c1490f
6:32036822 TNXB C>T	6	32036822	32036822	C	T	TNXB	c.5679G>A	NM_019105.8	NP_061978.6:p.(Thr1893=)	NC_000006.11:g.32036822C>T	(Likely) benign	1 lab	f718dedcee
16:74761180 FA2H G>C	16	74761180	74761180	G	C	FA2H	c.468C>G	NM_024306.5	NP_077282.3:p.(Phe156Leu)	NC_000016.9:g.74761180G>C	VUS	1 lab	f71b161a6b
9:35066706 VCP C>G	9	35066706	35066706	C	G	VCP	c.411G>C	NM_007126.5	NP_009057.1:p.(Pro137=)	NC_000009.11:g.35066706C>G	(Likely) benign	1 lab	f71bfc3e62
15:31360091 TRPM1 C>T	15	31360091	31360091	C	T	TRPM1	c.535G>A	NM_001252020.2	NP_001238949.1:p.(Val179Ile)	NC_000015.9:g.31360091C>T	VUS	1 lab	f731219ccd
7:30655580 GARS1 A>G	7	30655580	30655580	A	G	GARS1	c.1100A>G	NM_002047.4	NP_002038.2:p.(Asn367Ser)	NC_000007.13:g.30655580A>G	VUS	1 lab	f71df66d0b
2:21225297 APOB T>C	2	21225297	21225297	T	C	APOB	c.12997A>G	NM_000384.3	NP_000375.3:p.(Ile4333Val)	NC_000002.11:g.21225297T>C	(Likely) benign	1 lab	f71faa45dd
8:141542611 AGO2 C>T	8	141542611	141542611	C	T	AGO2	c.2375G>A	NM_012154.5	NP_036286.2:p.(Arg792His)	NC_000008.10:g.141542611C>T	(Likely) pathogenic	1 lab	f7213694fe
6:82461296 TENT5A G>A	6	82461296	82461296	G	A	TENT5A	c.552+11C>T	NM_017633.3	NP_060103.2:p.?	NC_000006.11:g.82461296G>A	(Likely) benign	1 lab	f7229af5b6
1:11194399 MTOR G>A	1	11194399	11194399	G	A	MTOR	c.5246+9C>T	NM_001386500.1	NP_001373429.1:p.?	NC_000001.10:g.11194399G>A	(Likely) benign	1 lab	f728d5241b
16:82852609 CDH13 Ref too long to show for this DEL>T	16	82852609	82869552	Ref too long to show for this DEL	T	CDH13	c.46-39357_46-22415del	NM_001257.5	NP_001248.1:p.?	NC_000016.9:g.82852610_82869552del	VUS	1 lab	f729fd57a0
6:79672878 PHIP A>G	6	79672878	79672878	A	G	PHIP	c.3471T>C	NM_017934.7	NP_060404.4:p.(Gly1157=)	NC_000006.11:g.79672878A>G	(Likely) benign	1 lab	f72b85abb0
2:29295028 PCARE C>T	2	29295028	29295028	C	T	PCARE	c.2100G>A	NM_001029883.3	NP_001025054.1:p.(Gly700=)	NC_000002.11:g.29295028C>T	(Likely) benign	1 lab	f72d120182
1:240371187 FMN2 A>G	1	240371187	240371187	A	G	FMN2	c.3087A>G	NM_001305424.2	NP_001292353.1:p.(Leu1029=)	NC_000001.10:g.240371187A>G	(Likely) benign	1 lab	f72ef977f0
3:38628940 SCN5A A>G	3	38628940	38628940	A	G	SCN5A	c.2387T>C	NM_198056.3	NP_932173.1:p.(Leu796Pro)	NC_000003.11:g.38628940A>G	VUS	1 lab	f72f41bcef
22:46780573 CELSR1 G>A	22	46780573	46780573	G	A	CELSR1	c.6750C>T	NM_001378328.1	NP_001365257.1:p.(Val2250=)	NC_000022.10:g.46780573G>A	(Likely) benign	1 lab	f72f77699f
19:45412272 APOE G>A	19	45412272	45412272	G	A	APOE	c.797G>A	NM_001302688.2	NP_001289617.1:p.(Gly266Asp)	NC_000019.9:g.45412272G>A	VUS	1 lab	f732527b06
1:55524160 PCSK9 C>T	1	55524160	55524160	C	T	PCSK9	c.1355-12C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524160C>T	(Likely) benign	1 lab	f73252a616
2:179650742 TTN A>G	2	179650742	179650742	A	G	TTN	c.2203T>C	NM_001267550.2	NP_001254479.2:p.(Tyr735His)	NC_000002.11:g.179650742A>G	VUS	1 lab	f73326042d
15:28202830 OCA2 G>A	15	28202830	28202830	G	A	OCA2	c.1688C>T	NM_000275.3	NP_000266.2:p.(Pro563Leu)	NC_000015.9:g.28202830G>A	VUS	1 lab	f733296c35
6:32486438 HLA-DRB5 G>A	6	32486438	32486438	G	A	HLA-DRB5	c.658C>T	NM_002125.4	NP_002116.2:p.(Gln220Ter)	NC_000006.11:g.32486438G>A	(Likely) benign	1 lab	f736525ec5
20:62195645 HELZ2 C>T	20	62195645	62195645	C	T	HELZ2	c.4530G>A	NM_001037335.2	NP_001032412.2:p.(Pro1510=)	NC_000020.10:g.62195645C>T	(Likely) benign	1 lab	f7365c6f85
2:219677104 CYP27A1 G>A	2	219677104	219677104	G	A	CYP27A1	c.606G>A	NM_000784.4	NP_000775.1:p.(Val202=)	NC_000002.11:g.219677104G>A	VUS	1 lab	f736c3252a
2:44102569 ABCG8 G>C	2	44102569	44102569	G	C	ABCG8	c.1756+17G>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102569G>C	(Likely) benign	1 lab	f738a4747f
12:52184254 SCN8A A>G	12	52184254	52184254	A	G	SCN8A	c.4492A>G	NM_001330260.2	NP_001317189.1:p.(Lys1498Glu)	NC_000012.11:g.52184254A>G	(Likely) pathogenic	1 lab	f73b846c1d
10:69935238 MYPN A>C	10	69935238	69935238	A	C	MYPN	c.2703+20A>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69935238A>C	(Likely) benign	1 lab	f73c6e2d02
X:37283465 MISSING T>Alt too long to show for this DUP	X	37283465	37372104	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37283466_37372104dup	VUS	1 lab	f73d2796b6
3:2076889 MISSING Ref too long to show for this DEL>C	3	2076889	2421718	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.2076891_2421718del	(Likely) pathogenic	1 lab	f73de75470
6:32010016 TNXB G>C	6	32010016	32010016	G	C	TNXB	c.12301+27C>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010016G>C	(Likely) benign	1 lab	f741b38814
2:1499756 TPO T>C	2	1499756	1499756	T	C	TPO	c.2007-5T>C	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1499756T>C	(Likely) benign	1 lab	f74202707f
2:179439460 TTN C>T	2	179439460	179439460	C	T	TTN	c.71399G>A	NM_001267550.2	NP_001254479.2:p.(Arg23800His)	NC_000002.11:g.179439460C>T	VUS	1 lab	f742077991
2:21228171 APOB C>T	2	21228171	21228171	C	T	APOB	c.11569G>A	NM_000384.3	NP_000375.3:p.(Val3857Met)	NC_000002.11:g.21228171C>T	(Likely) benign	1 lab	f744e19cb2
19:45411781 APOE C>A	19	45411781	45411781	C	A	APOE	c.237-9C>A	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45411781C>A	VUS	1 lab	f74aae4762
3:30715445 TGFBR2 T>A	3	30715445	30715445	T	A	TGFBR2	c.1255-152T>A	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30715445T>A	(Likely) benign	1 lab	f7560eb1fc
5:177035642 B4GALT7 C>T	5	177035642	177035642	C	T	B4GALT7	c.723+19C>T	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035642C>T	(Likely) benign	1 lab	f7566a3a2b
16:3647390 SLX4 C>T	16	3647390	3647390	C	T	SLX4	c.1673G>A	NM_032444.4	NP_115820.2:p.(Arg558Gln)	NC_000016.9:g.3647390C>T	(Likely) benign	1 lab	f7582b0ec4
2:44052070 ABCG5 C>T	2	44052070	44052070	C	T	ABCG5	c.862G>A	NM_022436.3	NP_071881.1:p.(Gly288Ser)	NC_000002.11:g.44052070C>T	VUS	1 lab	f7598f3601
7:50450406 IKZF1 G>A	7	50450406	50450406	G	A	IKZF1	c.589+1G>A	NM_001220765.3	NP_001207694.1:p.?	NC_000007.13:g.50450406G>A	(Likely) pathogenic	1 lab	f75d0a80d2
12:33003785 PKP2 C>A	12	33003785	33003785	C	A	PKP2	c.1293G>T	NM_004572.4	NP_004563.2:p.(Leu431Phe)	NC_000012.11:g.33003785C>A	VUS	1 lab	f75f1b2809
18:25591812 CDH2 T>G	18	25591812	25591812	T	G	CDH2	c.544A>C	NM_001792.5	NP_001783.2:p.(Arg182=)	NC_000018.9:g.25591812T>G	(Likely) benign	1 lab	f75f29499a
6:42974756 PPP2R5D G>T	6	42974756	42974756	G	T	PPP2R5D	c.430G>T	NM_006245.4	NP_006236.1:p.(Val144Leu)	NC_000006.11:g.42974756G>T	(Likely) pathogenic	1 lab	f75fc0a493
X:32361315 DMD C>T	X	32361315	32361315	C	T	DMD	c.5306G>A	NM_004010.3	NP_004001.1:p.(Cys1769Tyr)	NC_000023.10:g.32361315C>T	VUS	1 lab	f760e3f32d
14:23892645 MYH7 A>AACACACACACACACACACACAC	14	23892645	23892696	A	AACACACACACACACACACACAC	MYH7	c.3099+89_3099+110dup	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23892675_23892696dup	(Likely) benign	1 lab	f762d7cb0b
6:32037095 TNXB T>C	6	32037095	32037095	T	C	TNXB	c.5588-182A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32037095T>C	(Likely) benign	1 lab	f764cdb42c
3:100014146 TBC1D23 A>G	3	100014146	100014146	A	G	TBC1D23	c.726A>G	NM_001199198.3	NP_001186127.1:p.(Lys242=)	NC_000003.11:g.100014146A>G	(Likely) benign	1 lab	f764deead1
8:1844536 ARHGEF10 A>G	8	1844536	1844536	A	G	ARHGEF10	c.1553A>G	NM_001308153.2	NP_001295082.1:p.(Tyr518Cys)	NC_000008.10:g.1844536A>G	VUS	1 lab	f765fcbcd7
15:48717971 FBN1 C>A	15	48717971	48717971	C	A	FBN1	c.7295G>T	NM_000138.5	NP_000129.3:p.(Gly2432Val)	NC_000015.9:g.48717971C>A	VUS	1 lab	f766c11d90
17:48269236 COL1A1 AC>A	17	48269236	48269238	AC	A	COL1A1	c.2039del	NM_000088.4	NP_000079.2:p.(Gly680ValfsTer86)	NC_000017.10:g.48269238del	(Likely) pathogenic	1 lab	f767199e56
14:23887567 MYH7 C>T	14	23887567	23887567	C	T	MYH7	c.4021G>A	NM_000257.4	NP_000248.2:p.(Asp1341Asn)	NC_000014.8:g.23887567C>T	VUS	1 lab	f7694c46b4
X:153577761 FLNA C>T	X	153577761	153577761	C	T	FLNA	c.7725G>A	NM_001110556.2	NP_001104026.1:p.(Lys2575=)	NC_000023.10:g.153577761C>T	(Likely) benign	1 lab	f76e0929ba
5:133942679 SAR1B G>A	5	133942679	133942679	G	A	SAR1B	c.558C>T	NM_001033503.3	NP_001028675.1:p.(Tyr186=)	NC_000005.9:g.133942679G>A	(Likely) benign	1 lab	f76fcd61c4
15:85411596 ALPK3 C>G	15	85411596	85411596	C	G	ALPK3	c.5027C>G	NM_020778.5	NP_065829.4:p.(Ala1676Gly)	NC_000015.9:g.85411596C>G	VUS	1 lab	f772ebe127
14:96794877 ATG2B TA>T	14	96794877	96794889	TA	T	ATG2B	c.1975-6del	NM_018036.7	NP_060506.6:p.?	NC_000014.8:g.96794889del	(Likely) benign	1 lab	f778d6f81e
11:47360053 MYBPC3 G>A	11	47360053	47360053	G	A	MYBPC3	c.2308+18C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360053G>A	(Likely) benign	1 lab	f77d56862a
12:30829110 IPO8 T>A	12	30829110	30829110	T	A	IPO8	c.729+322A>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30829110T>A	(Likely) benign	1 lab	f77f5cf4d2
5:59942620 DEPDC1B Ref too long to show for this DEL>A	5	59942620	59974614	Ref too long to show for this DEL	A	DEPDC1B	c.314+8175_450+604del	NM_018369.3	NP_060839.2:p.?	NC_000005.9:g.59942621_59974614del	VUS	1 lab	f781e62108
2:21233786 APOB G>A	2	21233786	21233786	G	A	APOB	c.5954C>T	NM_000384.3	NP_000375.3:p.(Thr1985Ile)	NC_000002.11:g.21233786G>A	(Likely) benign	1 lab	f787c5a008
12:21353500 SLCO1B1 T>A	12	21353500	21353500	T	A	SLCO1B1	c.1029T>A	NM_006446.5	NP_006437.3:p.(Leu343=)	NC_000012.11:g.21353500T>A	(Likely) benign	1 lab	f787d65d36
2:179395653 TTN G>A	2	179395653	179395653	G	A	TTN	c.105689C>T	NM_001267550.2	NP_001254479.2:p.(Ser35230Leu)	NC_000002.11:g.179395653G>A	VUS	1 lab	f78a394f1a
5:82836201 VCAN T>C	5	82836201	82836201	T	C	VCAN	c.7379T>C	NM_004385.5	NP_004376.2:p.(Val2460Ala)	NC_000005.9:g.82836201T>C	(Likely) benign	1 lab	f78a93bb3d
2:210704109 UNC80 C>T	2	210704109	210704109	C	T	UNC80	c.3190C>T	NM_182587.4	NP_872393.3:p.(Arg1064Ter)	NC_000002.11:g.210704109C>T	(Likely) pathogenic	1 lab	f78abc79e9
2:179538356 TTN AT>A	2	179538356	179538357	AT	A	TTN	c.34786+3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179538357del	VUS	1 lab	f78e403c08
1:237550690 RYR2 CCACTT>C	1	237550690	237550697	CCACTT	C	RYR2	c.676+13_676+17del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237550693_237550697del	(Likely) benign	1 lab	f78e52adee
2:179418723 TTN T>C	2	179418723	179418723	T	C	TTN	c.89115A>G	NM_001267550.2	NP_001254479.2:p.(Gln29705=)	NC_000002.11:g.179418723T>C	(Likely) benign	1 lab	f78fe61c03
15:48826225 FBN1 G>A	15	48826225	48826225	G	A	FBN1	c.862+52C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48826225G>A	(Likely) benign	1 lab	f791183c84
4:37445941 NWD2 T>C	4	37445941	37445941	T	C	NWD2	c.2331T>C	NM_001144990.2	NP_001138462.1:p.(Leu777=)	NC_000004.11:g.37445941T>C	(Likely) benign	1 lab	f7926412ad
11:61213532 SDHAF2 A>G	11	61213532	61213532	A	G	SDHAF2	c.490A>G	NM_017841.4	NP_060311.1:p.(Lys164Glu)	NC_000011.9:g.61213532A>G	VUS	1 lab	f795122a24
1:156836698 NTRK1 G>A	1	156836698	156836698	G	A	NTRK1	c.360-4G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156836698G>A	VUS	1 lab	f7966dbf86
8:19811844 LPL T>A	8	19811844	19811844	T	A	LPL	c.755T>A	NM_000237.3	NP_000228.1:p.(Ile252Asn)	NC_000008.10:g.19811844T>A	(Likely) pathogenic	1 lab	f79800a268
9:136420859 ADAMTSL2 G>A	9	136420859	136420859	G	A	ADAMTSL2	c.1456G>A	NM_001145320.2	NP_001138792.1:p.(Ala486Thr)	NC_000009.11:g.136420859G>A	VUS	1 lab	f79893da8e
5:178581151 ADAMTS2 G>A	5	178581151	178581151	G	A	ADAMTS2	c.1281C>T	NM_014244.5	NP_055059.2:p.(Asp427=)	NC_000005.9:g.178581151G>A	(Likely) benign	1 lab	f79dad92cf
4:114267070 ANK2 T>C	4	114267070	114267070	T	C	ANK2	c.4263T>C	NM_001148.6	NP_001139.3:p.(Thr1421=)	NC_000004.11:g.114267070T>C	(Likely) benign	1 lab	f7a15f1c65
11:10014048 SBF2 G>A	11	10014048	10014048	G	A	SBF2	c.1210C>T	NM_030962.4	NP_112224.1:p.(Leu404Phe)	NC_000011.9:g.10014048G>A	VUS	1 lab	f7a21c0550
6:32011639 TNXB T>C	6	32011639	32011639	T	C	TNXB	c.11411A>G	NM_019105.8	NP_061978.6:p.(Gln3804Arg)	NC_000006.11:g.32011639T>C	(Likely) benign	1 lab	f7a36ce61f
8:133899766 TG C>T	8	133899766	133899766	C	T	TG	c.2149C>T	NM_003235.5	NP_003226.4:p.(Arg717Ter)	NC_000008.10:g.133899766C>T	(Likely) pathogenic	1 lab	f7a36e75da
12:125299665 SCARB1 G>T	12	125299665	125299665	G	T	SCARB1	c.285-5C>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299665G>T	VUS	1 lab	f7a4fc2c1e
20:5294722 PROKR2 G>A	20	5294722	5294722	G	A	PROKR2	c.294C>T	NM_144773.4	NP_658986.1:p.(Ser98=)	NC_000020.10:g.5294722G>A	(Likely) benign	1 lab	f7a76f6326
15:45388138 DUOX2 G>T	15	45388138	45388138	G	T	DUOX2	c.3968C>A	NM_014080.5	NP_054799.4:p.(Ala1323Glu)	NC_000015.9:g.45388138G>T	VUS	1 lab	f7ada1058c
4:43031487 MISSING Ref too long to show for this DEL>A	4	43031487	43057083	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.43031490_43057083del	VUS	1 lab	f7add04249
2:21229742 APOB G>A	2	21229742	21229742	G	A	APOB	c.9998C>T	NM_000384.3	NP_000375.3:p.(Ala3333Val)	NC_000002.11:g.21229742G>A	VUS	1 lab	f7b0d963b9
2:196728886 DNAH7 A>G	2	196728886	196728886	A	G	DNAH7	c.7493T>C	NM_018897.3	NP_061720.2:p.(Ile2498Thr)	NC_000002.11:g.196728886A>G	(Likely) benign	1 lab	f7b4391aa5
6:73650928 KCNQ5 Ref too long to show for this DEL>T	6	73650928	73660748	Ref too long to show for this DEL	T	KCNQ5	c.399-62702_399-52883del	NM_019842.4	NP_062816.2:p.?	NC_000006.11:g.73650929_73660748del	VUS	1 lab	f7b5fb06bc
18:47095872 LIPG C>G	18	47095872	47095872	C	G	LIPG	c.525C>G	NM_006033.4	NP_006024.1:p.(Ala175=)	NC_000018.9:g.47095872C>G	(Likely) benign	1 lab	f7b6af9edb
11:116661360 APOA5 G>C	11	116661360	116661360	G	C	APOA5	c.585C>G	NM_052968.5	NP_443200.2:p.(Ala195=)	NC_000011.9:g.116661360G>C	(Likely) benign	1 lab	f7baec6197
10:73579979 PSAP G>A	10	73579979	73579979	G	A	PSAP	c.1014+18C>T	NM_001042465.3	NP_001035930.1:p.?	NC_000010.10:g.73579979G>A	(Likely) benign	1 lab	f7bd3520a3
2:166639517 MISSING T>Alt too long to show for this DUP	2	166639517	166760932	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.166639521_166760932dup	VUS	1 lab	f7bda934f8
6:76734970 IMPG1 T>C	6	76734970	76734970	T	C	IMPG1	c.503A>G	NM_001563.4	NP_001554.2:p.(Asp168Gly)	NC_000006.11:g.76734970T>C	VUS	1 lab	f7be07c390
14:76349172 TTLL5 G>T	14	76349172	76349172	G	T	TTLL5	c.3667G>T	NM_015072.5	NP_055887.3:p.(Ala1223Ser)	NC_000014.8:g.76349172G>T	(Likely) benign	1 lab	f7be143986
11:47371927 MYBPC3 C>T	11	47371927	47371927	C	T	MYBPC3	c.406+126G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371927C>T	(Likely) benign	1 lab	f7c1d6d81c
10:61829273 ANK3 T>C	10	61829273	61829273	T	C	ANK3	c.11366A>G	NM_020987.5	NP_066267.2:p.(Asn3789Ser)	NC_000010.10:g.61829273T>C	(Likely) benign	1 lab	f7c50776ff
9:107624123 ABCA1 CAA>C	9	107624123	107624138	CAA	C	ABCA1	c.422-44_422-43del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624137_107624138del	(Likely) benign	1 lab	f7c5a7e87d
1:236900597 ACTN2 G>GTATATATATATATA	1	236900597	236900598	G	GTATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATA	(Likely) benign	1 lab	f7c6edf733
6:119238739 MCM9 G>A	6	119238739	119238739	G	A	MCM9	c.891C>T	NM_017696.3	NP_060166.2:p.(Ser297=)	NC_000006.11:g.119238739G>A	(Likely) benign	1 lab	f7cd44e9de
1:218578685 TGFB2 TTTG>T	1	218578685	218578717	TTTG	T	TGFB2	c.594+41_594+43del	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578715_218578717del	(Likely) benign	1 lab	f7cd5a2d0b
12:33021927 PKP2 G>A	12	33021927	33021927	G	A	PKP2	c.1104C>T	NM_004572.4	NP_004563.2:p.(Ser368=)	NC_000012.11:g.33021927G>A	(Likely) benign	1 lab	f7cd8e1fa8
1:55509704 PCSK9 G>A	1	55509704	55509704	G	A	PCSK9	c.396G>A	NM_174936.4	NP_777596.2:p.(Glu132=)	NC_000001.10:g.55509704G>A	(Likely) benign	1 lab	f7d0581be9
2:21229084 APOB T>C	2	21229084	21229084	T	C	APOB	c.10656A>G	NM_000384.3	NP_000375.3:p.(Gly3552=)	NC_000002.11:g.21229084T>C	(Likely) benign	1 lab	f7d4fb3009
11:47370308 MYBPC3 T>C	11	47370308	47370308	T	C	MYBPC3	c.655-216A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370308T>C	(Likely) benign	1 lab	f7d983ca90
1:161276705 MPZ G>A	1	161276705	161276705	G	A	MPZ	c.241C>T	NM_000530.8	NP_000521.2:p.(His81Tyr)	NC_000001.10:g.161276705G>A	(Likely) pathogenic	1 lab	f7de726212
10:18828579 CACNB2 AAGG>A	10	18828579	18828583	AAGG	A	CACNB2	c.1746_1748del	NM_000724.4	NP_000715.2:p.(Lys582_Asp583delinsAsn)	NC_000010.10:g.18828581_18828583del	(Likely) benign	1 lab	f7e18816fc
2:21236025 APOB A>G	2	21236025	21236025	A	G	APOB	c.4216+7T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21236025A>G	(Likely) benign	1 lab	f8159569c8
5:89954009 ADGRV1 G>T	5	89954009	89954009	G	T	ADGRV1	c.4666G>T	NM_032119.4	NP_115495.3:p.(Glu1556Ter)	NC_000005.9:g.89954009G>T	(Likely) pathogenic	1 lab	f7e53aaa53
5:82817313 VCAN T>C	5	82817313	82817313	T	C	VCAN	c.3188T>C	NM_004385.5	NP_004376.2:p.(Leu1063Pro)	NC_000005.9:g.82817313T>C	(Likely) benign	1 lab	f7e572161b
7:128489775 FLNC C>G	7	128489775	128489775	C	G	FLNC	c.5199+143C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489775C>G	(Likely) benign	1 lab	f7e574fc2c
2:21231975 APOB C>A	2	21231975	21231975	C	A	APOB	c.7765G>T	NM_000384.3	NP_000375.3:p.(Glu2589Ter)	NC_000002.11:g.21231975C>A	(Likely) pathogenic	1 lab	f7e7046a96
2:179583529 TTN G>A	2	179583529	179583529	G	A	TTN	c.24398C>T	NM_001267550.2	NP_001254479.2:p.(Thr8133Ile)	NC_000002.11:g.179583529G>A	VUS	1 lab	f7e96f1aa2
10:95418938 PDE6C A>C	10	95418938	95418938	A	C	PDE6C	c.2208+14A>C	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95418938A>C	(Likely) benign	1 lab	f7eb145e82
11:1017336 MUC6 G>C	11	1017336	1017336	G	C	MUC6	c.5465C>G	NM_005961.3	NP_005952.2:p.(Thr1822Ser)	NC_000011.9:g.1017336G>C	(Likely) benign	1 lab	f7ebcbb2d2
15:85411577 ALPK3 A>T	15	85411577	85411577	A	T	ALPK3	c.5008A>T	NM_020778.5	NP_065829.4:p.(Ser1670Cys)	NC_000015.9:g.85411577A>T	VUS	1 lab	f7ef9ee820
1:10403293 KIF1B G>A	1	10403293	10403293	G	A	KIF1B	c.3636G>A	NM_001365951.3	NP_001352880.1:p.(Pro1212=)	NC_000001.10:g.10403293G>A	(Likely) benign	1 lab	f7f08e426a
2:219677034 CYP27A1 A>G	2	219677034	219677034	A	G	CYP27A1	c.536A>G	NM_000784.4	NP_000775.1:p.(Asn179Ser)	NC_000002.11:g.219677034A>G	(Likely) pathogenic	1 lab	f7f09613b7
20:13140720 SPTLC3 G>A	20	13140720	13140720	G	A	SPTLC3	c.1486G>A	NM_018327.4	NP_060797.2:p.(Ala496Thr)	NC_000020.10:g.13140720G>A	(Likely) benign	1 lab	f7f2bfcdfa
4:114275425 ANK2 C>T	4	114275425	114275425	C	T	ANK2	c.5792C>T	NM_001386174.1	NP_001373103.1:p.(Ser1931Leu)	NC_000004.11:g.114275425C>T	VUS	1 lab	f7f7ad7723
X:129264123 AIFM1 T>G	X	129264123	129264123	T	G	AIFM1	c.1592A>C	NM_004208.4	NP_004199.1:p.(Glu531Ala)	NC_000023.10:g.129264123T>G	VUS	1 lab	f7f7d9d243
6:135786993 AHI1 T>C	6	135786993	135786993	T	C	AHI1	c.708A>G	NM_001134831.2	NP_001128303.1:p.(Lys236=)	NC_000006.11:g.135786993T>C	(Likely) benign	1 lab	f7f7e648a1
20:10622267 JAG1 G>A	20	10622267	10622267	G	A	JAG1	c.2757C>T	NM_000214.3	NP_000205.1:p.(Pro919=)	NC_000020.10:g.10622267G>A	(Likely) benign	1 lab	f7f7edce7e
16:29640745 MISSING T>Alt too long to show for this DUP	16	29640745	30197948	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29640747_30197948dup	(Likely) pathogenic	1 lab	f7f9247e5a
5:90106175 ADGRV1 T>C	5	90106175	90106175	T	C	ADGRV1	c.15098T>C	NM_032119.4	NP_115495.3:p.(Phe5033Ser)	NC_000005.9:g.90106175T>C	VUS	1 lab	f7f96e7d73
19:7624054 PNPLA6 G>A	19	7624054	7624054	G	A	PNPLA6	c.3729+17G>A	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7624054G>A	(Likely) benign	1 lab	f7fafa8328
12:21358831 SLCO1B1 T>G	12	21358831	21358831	T	G	SLCO1B1	c.1361T>G	NM_006446.5	NP_006437.3:p.(Val454Gly)	NC_000012.11:g.21358831T>G	(Likely) benign	1 lab	f7fca77432
8:19796688 LPL T>C	8	19796688	19796688	T	C	LPL				NC_000008.10:g.19796688T>C	VUS	1 lab	f7fde461a0
7:133514109 MISSING T>Alt too long to show for this DUP	7	133514109	134389875	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.133514110_134389875dup	VUS	1 lab	f7fff0f7da
5:106991474 MISSING A>Alt too long to show for this DUP	5	106991474	107022147	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.106991475_107022147dup	VUS	1 lab	f804d0fa3a
2:44058470 ABCG5 T>C	2	44058470	44058470	T	C	ABCG5	c.501+438A>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44058470T>C	(Likely) benign	1 lab	f809d11486
14:76238118 TTLL5 A>G	14	76238118	76238118	A	G	TTLL5	c.2057A>G	NM_015072.5	NP_055887.3:p.(His686Arg)	NC_000014.8:g.76238118A>G	(Likely) benign	1 lab	f80acce65b
8:43037361 HGSNAT G>A	8	43037361	43037361	G	A	HGSNAT	c.1086G>A	NM_152419.3	NP_689632.2:p.(Leu362=)	NC_000008.10:g.43037361G>A	(Likely) benign	1 lab	f80ad25bec
1:197392173 CRB1 G>A	1	197392173	197392173	G	A	CRB1	c.1921+1087G>A	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197392173G>A	(Likely) benign	1 lab	f80ccab68b
20:61467701 COL9A3 G>A	20	61467701	61467701	G	A	COL9A3	c.1548+16G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61467701G>A	(Likely) benign	1 lab	f80ce2f2b2
12:124298332 DNAH10 A>G	12	124298332	124298332	A	G	DNAH10	c.3299A>G	NM_207437.3	NP_997320.2:p.(Asn1100Ser)	NC_000012.11:g.124298332A>G	(Likely) benign	1 lab	f80f3f55d1
16:57993919 CNGB1 T>A	16	57993919	57993919	T	A	CNGB1	c.634A>T	NM_001297.5	NP_001288.3:p.(Thr212Ser)	NC_000016.9:g.57993919T>A	(Likely) benign	1 lab	f810a0c2d5
2:26725387 OTOF T>Alt too long to show for this DUP	2	26725387	26783007	T	Alt too long to show for this DUP	OTOF				NC_000002.11:g.26725388_26783007dup	VUS	1 lab	f811059576
11:88961055 TYR C>A	11	88961055	88961055	C	A	TYR	c.1101C>A	NM_000372.5	NP_000363.1:p.(His367Gln)	NC_000011.9:g.88961055C>A	(Likely) pathogenic	1 lab	f811c8b377
16:16256895 ABCC6 A>G	16	16256895	16256895	A	G	ABCC6	c.3461T>C	NM_001171.6	NP_001162.5:p.(Val1154Ala)	NC_000016.9:g.16256895A>G	VUS	1 lab	f814a21f30
1:6533165 PLEKHG5 G>A	1	6533165	6533165	G	A	PLEKHG5	c.1072C>T	NM_001265593.1	NP_001252522.1:p.(Pro358Ser)	NC_000001.10:g.6533165G>A	VUS	1 lab	f8161c20cf
17:58235763 CA4 G>T	17	58235763	58235763	G	T	CA4	c.700G>T	NM_000717.5	NP_000708.1:p.(Val234Phe)	NC_000017.10:g.58235763G>T	VUS	1 lab	f8184a0ac5
15:85407721 ALPK3 T>C	15	85407721	85407721	T	C	ALPK3	c.4548T>C	NM_020778.5	NP_065829.4:p.(Tyr1516=)	NC_000015.9:g.85407721T>C	(Likely) benign	1 lab	f818be169f
14:36988216 NKX2-1 G>A	14	36988216	36988216	G	A	NKX2-1	c.347C>T	NM_003317.4	NP_003308.1:p.(Ala116Val)	NC_000014.8:g.36988216G>A	VUS	1 lab	f818d77d09
18:29111233 DSG2 G>C	18	29111233	29111233	G	C	DSG2	c.1280+18G>C	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29111233G>C	(Likely) benign	1 lab	f8190db206
9:79937996 VPS13A T>C	9	79937996	79937996	T	C	VPS13A	c.5844T>C	NM_033305.3	NP_150648.2:p.(His1948=)	NC_000009.11:g.79937996T>C	(Likely) benign	1 lab	f819622b39
17:60601631 TLK2 G>A	17	60601631	60601631	G	A	TLK2	c.302G>A	NM_006852.6	NP_006843.2:p.(Gly101Asp)	NC_000017.10:g.60601631G>A	VUS	1 lab	f81a5b7d1d
1:94525509 ABCA4 T>C	1	94525509	94525509	T	C	ABCA4	c.2160+584A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94525509T>C	(Likely) pathogenic	1 lab	f81d4c1c58
16:2077138 NHERF2 C>T	16	2077138	2077138	C	T	NHERF2	c.132C>T	NM_001130012.3	NP_001123484.1:p.(Pro44=)	NC_000016.9:g.2077138C>T	(Likely) benign	1 lab	f821096156
1:55512303 PCSK9 T>C	1	55512303	55512303	T	C	PCSK9	c.507T>C	NM_174936.4	NP_777596.2:p.(Asp169=)	NC_000001.10:g.55512303T>C	(Likely) benign	1 lab	f822a80c10
X:153609526 EMD T>A	X	153609526	153609526	T	A	EMD	c.734T>A	NM_000117.3	NP_000108.1:p.(Phe245Tyr)	NC_000023.10:g.153609526T>A	VUS	1 lab	f8231e4151
19:11227928 LDLR T>C	19	11227928	11227928	T	C	LDLR	c.1845+254T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227928T>C	(Likely) benign	1 lab	f824547568
5:110096939 SLC25A46 G>A	5	110096939	110096939	G	A	SLC25A46	c.714G>A	NM_138773.4	NP_620128.1:p.(Glu238=)	NC_000005.9:g.110096939G>A	(Likely) benign	1 lab	f826127fd7
16:69569365 MISSING G>Alt too long to show for this DUP	16	69569365	69703984	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.69569367_69703984dup	VUS	1 lab	f82f2580ef
15:44888305 SPG11 G>A	15	44888305	44888305	G	A	SPG11	c.4410C>T	NM_025137.4	NP_079413.3:p.(Leu1470=)	NC_000015.9:g.44888305G>A	(Likely) benign	1 lab	f830c53e47
2:32095023 MEMO1 TA>T	2	32095023	32095038	TA	T	MEMO1	c.658-3del	NM_001301833.4	NP_001288762.1:p.?	NC_000002.11:g.32095038del	(Likely) benign	1 lab	f8360c7ffc
8:19809479 LPL A>C	8	19809479	19809479	A	C	LPL	c.429+20A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809479A>C	(Likely) benign	1 lab	f8364488d5
X:153628171 RPL10 A>G	X	153628171	153628171	A	G	RPL10	c.218A>G	NM_001303625.1	NP_001290554.1:p.(Asn73Ser)	NC_000023.10:g.153628171A>G	(Likely) pathogenic	1 lab	f837ed0b99
6:30883561 VARS2 G>A	6	30883561	30883561	G	A	VARS2	c.513G>A	NM_001167734.2	NP_001161206.1:p.(Met171Ile)	NC_000006.11:g.30883561G>A	(Likely) benign	1 lab	f83ee4faa1
15:45393418 DUOX2 C>T	15	45393418	45393418	C	T	DUOX2	c.2906G>A	NM_001363711.2	NP_001350640.1:p.(Arg969Gln)	NC_000015.9:g.45393418C>T	(Likely) benign	1 lab	f83fac37a9
6:112440502 LAMA4 G>T	6	112440502	112440502	G	T	LAMA4	c.4678C>A	NM_001105206.3	NP_001098676.2:p.(Arg1560=)	NC_000006.11:g.112440502G>T	(Likely) benign	1 lab	f83fea03ba
19:45452444 APOC2 A>G	19	45452444	45452444	A	G	APOC2	c.244A>G	NM_000483.5	NP_000474.2:p.(Met82Val)	NC_000019.9:g.45452444A>G	VUS	1 lab	f84160ba58
13:32893458 BRCA2 C>T	13	32893458	32893458	C	T	BRCA2	c.312C>T	NM_000059.4	NP_000050.3:p.(Asp104=)	NC_000013.10:g.32893458C>T	(Likely) benign	1 lab	f84559260b
5:180051003 FLT4 T>C	5	180051003	180051003	T	C	FLT4	c.1480A>G	NM_182925.5	NP_891555.2:p.(Thr494Ala)	NC_000005.9:g.180051003T>C	(Likely) benign	1 lab	f849cb6b79
15:58856193 LIPC T>C	15	58856193	58856193	T	C	LIPC	c.1388+271T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856193T>C	(Likely) benign	1 lab	f84e2bcb68
18:77470920 CTDP1 A>G	18	77470920	77470920	A	G	CTDP1	c.863+484A>G	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77470920A>G	(Likely) benign	1 lab	f84e466488
10:97983762 BLNK A>G	10	97983762	97983762	A	G	BLNK	c.362-17T>C	NM_013314.4	NP_037446.1:p.?	NC_000010.10:g.97983762A>G	(Likely) benign	1 lab	f84f644640
2:189853125 COL3A1 G>T	2	189853125	189853125	G	T	COL3A1	c.583-191G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853125G>T	(Likely) benign	1 lab	f850931f21
3:114070044 ZBTB20 C>A	3	114070044	114070044	C	A	ZBTB20	c.881G>T	NM_001348803.3	NP_001335732.1:p.(Arg294Leu)	NC_000003.11:g.114070044C>A	VUS	1 lab	f852f4f9fc
1:236900598 ACTN2 C>CATATATATATATATAT	1	236900598	236900618	C	CATATATATATATATAT	ACTN2	c.876+89_876+104dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900603_236900618dup	(Likely) benign	1 lab	f853e15bb5
18:48089025 MAPK4 Ref too long to show for this DEL>A	18	48089025	48169005	Ref too long to show for this DEL	A	MAPK4	c.-871+2416_-870-20454del	NM_002747.4	NP_002738.2:p.?	NC_000018.9:g.48089029_48169005del	VUS	1 lab	f8546c3c92
12:38714242 ALG10B G>A	12	38714242	38714242	G	A	ALG10B	c.649G>A	NM_001013620.4	NP_001013642.2:p.(Glu217Lys)	NC_000012.11:g.38714242G>A	(Likely) benign	1 lab	f85555c4c1
18:34298398 FHOD3 C>G	18	34298398	34298398	C	G	FHOD3	c.3137C>G	NM_001281740.3	NP_001268669.1:p.(Pro1046Arg)	NC_000018.9:g.34298398C>G	VUS	1 lab	f8562c6bf4
19:11224296 LDLR G>A	19	11224296	11224296	G	A	LDLR	c.1444G>A	NM_000527.5	NP_000518.1:p.(Asp482Asn)	NC_000019.9:g.11224296G>A	(Likely) pathogenic	1 lab	f8581aa328
8:19819704 LPL C>A	8	19819704	19819704	C	A	LPL	c.1401C>A	NM_000237.3	NP_000228.1:p.(Asp467Glu)	NC_000008.10:g.19819704C>A	VUS	1 lab	f85adab3ae
12:111351125 MYL2 G>A	12	111351125	111351125	G	A	MYL2	c.278C>T	NM_000432.4	NP_000423.2:p.(Ala93Val)	NC_000012.11:g.111351125G>A	VUS	1 lab	f85b13c6a6
19:16606945 CALR3 G>A	19	16606945	16606945	G	A	CALR3	c.-5C>T	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16606945G>A	(Likely) benign	1 lab	f85c65c3b4
15:22698521 MISSING Ref too long to show for this DEL>T	15	22698521	23260514	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22698522_23260514del	(Likely) pathogenic	1 lab	3a121209bb
7:92764982 SAMD9L C>T	7	92764982	92764982	C	T	SAMD9L	c.303G>A	NM_152703.5	NP_689916.2:p.(Gln101=)	NC_000007.13:g.92764982C>T	(Likely) benign	1 lab	f85cd8c487
1:63063720 ANGPTL3 A>G	1	63063720	63063720	A	G	ANGPTL3	c.483A>G	NM_014495.4	NP_055310.1:p.(Val161=)	NC_000001.10:g.63063720A>G	(Likely) benign	1 lab	f85eea660c
1:41503044 SCMH1 T>C	1	41503044	41503044	T	C	SCMH1	c.1455A>G	NM_001172218.2	NP_001165689.1:p.(Leu485=)	NC_000001.10:g.41503044T>C	(Likely) benign	1 lab	f85f963cf9
2:179485943 TTN TA>T	2	179485943	179485945	TA	T	TTN	c.45501del	NM_001267550.2	NP_001254479.2:p.(Ile15168LeufsTer9)	NC_000002.11:g.179485945del	(Likely) pathogenic	1 lab	f8607c1575
5:10250538 CCT5 T>C	5	10250538	10250538	T	C	CCT5	c.86T>C	NM_001306154.2	NP_001293083.1:p.(Met29Thr)	NC_000005.9:g.10250538T>C	VUS	1 lab	f863c78018
20:62659820 PRPF6 T>C	20	62659820	62659820	T	C	PRPF6	c.2340-11T>C	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62659820T>C	(Likely) benign	1 lab	f86821764c
19:45856534 ERCC2 G>A	19	45856534	45856534	G	A	ERCC2	c.1724C>T	NM_000400.4	NP_000391.1:p.(Ala575Val)	NC_000019.9:g.45856534G>A	VUS	1 lab	f86864c663
7:151478279 PRKAG2 G>A	7	151478279	151478279	G	A	PRKAG2	c.425C>T	NM_016203.4	NP_057287.2:p.(Thr142Ile)	NC_000007.13:g.151478279G>A	VUS	1 lab	f868a1bfc8
9:79922845 VPS13A CT>C	9	79922845	79922855	CT	C	VPS13A	c.3961-6del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79922855del	(Likely) benign	1 lab	f8697b630f
2:21232121 APOB C>G	2	21232121	21232121	C	G	APOB	c.7619G>C	NM_000384.3	NP_000375.3:p.(Gly2540Ala)	NC_000002.11:g.21232121C>G	VUS	1 lab	f86b3b2311
19:50753822 MYH14 G>C	19	50753822	50753822	G	C	MYH14	c.1707G>C	NM_001145809.2	NP_001139281.1:p.(Pro569=)	NC_000019.9:g.50753822G>C	(Likely) benign	1 lab	f86dc0f299
2:21235848 APOB G>T	2	21235848	21235848	G	T	APOB	c.4216+184C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235848G>T	(Likely) benign	1 lab	f86ed83b67
4:110446561 SEC24B C>CA	4	110446561	110446562	C	CA	SEC24B	c.2783dup	NM_001300813.3	NP_001287742.1:p.(His928GlnfsTer24)	NC_000004.11:g.110446562dup	VUS	1 lab	f8708939a2
2:21230863 APOB C>T	2	21230863	21230863	C	T	APOB	c.8877G>A	NM_000384.3	NP_000375.3:p.(Leu2959=)	NC_000002.11:g.21230863C>T	(Likely) benign	1 lab	f8717f35b3
11:116746671 MISSING C>Alt too long to show for this DUP	11	116746671	117075876	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.116746672_117075876dup	VUS	1 lab	f871876a31
16:54319382 IRX3 C>T	16	54319382	54319382	C	T	IRX3	c.411G>A	NM_024336.3	NP_077312.2:p.(Glu137=)	NC_000016.9:g.54319382C>T	(Likely) benign	1 lab	f8727fb361
6:110106211 FIG4 T>A	6	110106211	110106211	T	A	FIG4	c.1928T>A	NM_014845.6	NP_055660.1:p.(Leu643Ter)	NC_000006.11:g.110106211T>A	VUS	1 lab	f87297ba86
13:41650247 WBP4 T>C	13	41650247	41650247	T	C	WBP4	c.630T>C	NM_007187.5	NP_009118.1:p.(Asn210=)	NC_000013.10:g.41650247T>C	(Likely) benign	1 lab	f87305c565
2:220424160 OBSL1 CCAAGGTCACGGCGAT>C	2	220424160	220424184	CCAAGGTCACGGCGAT	C	OBSL1	c.2998_3012del	NM_015311.3	NP_056126.1:p.(Ile1000_Leu1004del)	NC_000002.11:g.220424170_220424184del	VUS	1 lab	f8768714b4
9:107584854 ABCA1 A>G	9	107584854	107584854	A	G	ABCA1	c.2751T>C	NM_005502.4	NP_005493.2:p.(Asp917=)	NC_000009.11:g.107584854A>G	(Likely) benign	1 lab	f8775da4c6
12:274938 IQSEC3 C>T	12	274938	274938	C	T	IQSEC3	c.2853C>T	NM_001170738.2	NP_001164209.1:p.(Ser951=)	NC_000012.11:g.274938C>T	(Likely) benign	1 lab	f87a78dd24
9:137674258 COL5A1 C>G	9	137674258	137674258	C	G	COL5A1	c.2431-255C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674258C>G	(Likely) benign	1 lab	f87c5e7ce0
1:43178305 MISSING T>Alt too long to show for this DUP	1	43178305	43326109	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.43178306_43326109dup	VUS	1 lab	f880df15e7
5:7900056 MTRR A>G	5	7900056	7900056	A	G	MTRR	c.1982A>G	NM_002454.3	NP_002445.2:p.(His661Arg)	NC_000005.9:g.7900056A>G	(Likely) benign	1 lab	f89290894f
11:9829546 SBF2-AS1 C>G	11	9829546	9829546	C	G	SBF2-AS1	n.363C>G	NR_036485.1		NC_000011.9:g.9829546C>G	(Likely) pathogenic	1 lab	3e4debfd86
22:41903937 ACO2 G>A	22	41903937	41903937	G	A	ACO2	c.316G>A	NM_001098.3	NP_001089.1:p.(Ala106Thr)	NC_000022.10:g.41903937G>A	VUS	1 lab	f89460ce72
15:23891911 MAGEL2 C>T	15	23891911	23891911	C	T	MAGEL2	c.979G>A	NM_019066.5	NP_061939.3:p.(Ala327Thr)	NC_000015.9:g.23891911C>T	(Likely) benign	1 lab	f8950c1428
2:48030740 MSH6 G>A	2	48030740	48030740	G	A	MSH6	c.3354G>A	NM_000179.3	NP_000170.1:p.(Glu1118=)	NC_000002.11:g.48030740G>A	(Likely) benign	1 lab	f8969cb2fd
4:154245313 TRIM2 C>T	4	154245313	154245313	C	T	TRIM2	c.1941+13C>T	NM_001375512.1	NP_001362441.1:p.?	NC_000004.11:g.154245313C>T	(Likely) benign	1 lab	f898c59e54
1:46876056 MISSING Ref too long to show for this DEL>A	1	46876056	47000917	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.46876057_47000917del	VUS	1 lab	f899db11e3
6:65767576 EYS A>T	6	65767576	65767576	A	T	EYS	c.2068T>A	NM_001292009.2	NP_001278938.1:p.(Cys690Ser)	NC_000006.11:g.65767576A>T	VUS	1 lab	f89b549764
17:61850072 MISSING A>Alt too long to show for this DUP	17	61850072	61998305	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.61850073_61998305dup	VUS	1 lab	f89b6c5b5c
7:35840843 SEPTIN7 T>G	7	35840843	35840843	T	G	SEPTIN7	c.24T>G	NM_001788.6	NP_001779.3:p.(Ala8=)	NC_000007.13:g.35840843T>G	(Likely) benign	1 lab	f89c2a8c74
9:35699239 TLN1 C>T	9	35699239	35699239	C	T	TLN1	c.6875-86G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35699239C>T	(Likely) benign	1 lab	f89e1d8309
11:117251316 CEP164 C>T	11	117251316	117251316	C	T	CEP164	c.1318-14C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117251316C>T	(Likely) benign	1 lab	f89e8650ac
X:43680089 MISSING A>Alt too long to show for this DUP	X	43680089	44108076	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.43680090_44108076dup	(Likely) pathogenic	1 lab	f89f9357d8
19:43407877 PSG6 CA>C	19	43407877	43407891	CA	C	PSG6	c.1241-1280del	NM_001031850.4	NP_001027020.1:p.?	NC_000019.9:g.43407891del	(Likely) benign	1 lab	f8a1fffb16
15:58838172 LIPC A>G	15	58838172	58838172	A	G	LIPC	c.806A>G	NM_000236.3	NP_000227.2:p.(Asn269Ser)	NC_000015.9:g.58838172A>G	VUS	1 lab	f8a213ec2f
2:179590396 TTN T>C	2	179590396	179590396	T	C	TTN	c.20555-20A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179590396T>C	(Likely) benign	1 lab	f8a51586ee
19:13010556 GCDH A>C	19	13010556	13010556	A	C	GCDH	c.*201A>C	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13010556A>C	VUS	1 lab	f8a5bc2739
14:102508960 DYNC1H1 G>A	14	102508960	102508960	G	A	DYNC1H1	c.12400-12G>A	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102508960G>A	(Likely) benign	1 lab	f8a6211ef4
11:131705176 NTM Ref too long to show for this DEL>A	11	131705176	131728125	Ref too long to show for this DEL	A	NTM	c.83-76281_83-53333del	NM_001352005.2	NP_001338934.1:p.?	NC_000011.9:g.131705177_131728125del	VUS	1 lab	f8a655bc3d
9:100616700 FOXE1 AGCCGCCGCCGCCGCC>A	9	100616700	100616733	AGCCGCCGCCGCCGCC	A	FOXE1	c.523_537del	NM_004473.4	NP_004464.2:p.(Ala175_Ala179del)	NC_000009.11:g.100616719_100616733del	(Likely) benign	1 lab	f8af67965d
2:21235537 APOB GA>G	2	21235537	21235541	GA	G	APOB	c.4217-15del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235541del	(Likely) benign	1 lab	f8b04dd5ea
15:52675271 MYO5A G>A	15	52675271	52675271	G	A	MYO5A	c.2012+17C>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52675271G>A	(Likely) benign	1 lab	f8b0a98160
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-25_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439787_18439809dup	(Likely) benign	1 lab	f8b537002c
17:78184350 SGSH C>T	17	78184350	78184350	C	T	SGSH	c.1410G>A	NM_000199.5	NP_000190.1:p.(Lys470=)	NC_000017.10:g.78184350C>T	(Likely) benign	1 lab	f8b6c9b2cb
11:119216275 C1QTNF5 G>C	11	119216275	119216275	G	C	C1QTNF5	c.-2141C>G	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119216275G>C	(Likely) benign	1 lab	f8b6fed51d
7:154667692 DPP6 G>A	7	154667692	154667692	G	A	DPP6	c.1960G>A	NM_130797.4	NP_570629.2:p.(Gly654Ser)	NC_000007.13:g.154667692G>A	(Likely) benign	1 lab	f8b7c1c547
6:84798821 MRAP2 C>T	6	84798821	84798821	C	T	MRAP2	c.239C>T	NM_138409.4	NP_612418.2:p.(Ser80Phe)	NC_000006.11:g.84798821C>T	VUS	1 lab	f8b9551755
6:3225152 TUBB2B G>A	6	3225152	3225152	G	A	TUBB2B				NC_000006.11:g.3225152G>A	VUS	1 lab	cd021131f9
5:60822209 ZSWIM6 G>A	5	60822209	60822209	G	A	ZSWIM6	c.1823G>A	NM_020928.2	NP_065979.1:p.(Arg608Gln)	NC_000005.9:g.60822209G>A	VUS	1 lab	f8ba3c524e
9:135547281 MISSING G>Alt too long to show for this DUP	9	135547281	135578078	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.135547283_135578078dup	VUS	1 lab	f8bafabd1d
16:57005991 CETP A>T	16	57005991	57005991	A	T	CETP	c.746A>T	NM_000078.3	NP_000069.2:p.(His249Leu)	NC_000016.9:g.57005991A>T	(Likely) pathogenic	1 lab	f8bc040b9d
1:51439873 CDKN2C C>G	1	51439873	51439873	C	G	CDKN2C	c.438C>G	NM_001262.3	NP_001253.1:p.(Leu146=)	NC_000001.10:g.51439873C>G	(Likely) benign	1 lab	f8c4c4b1c9
2:113976104 PAX8 T>C	2	113976104	113976104	T	C	PAX8	c.*6A>G	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113976104T>C	(Likely) benign	1 lab	f8c4cb3ea8
X:123108873 STAG2 A>Alt too long to show for this DUP	X	123108873	123111145	A	Alt too long to show for this DUP	STAG2	c.-163+13169_-163+15439dup	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123108875_123111145dup	VUS	1 lab	f8c6fc8323
12:32735182 FGD4 A>G	12	32735182	32735182	A	G	FGD4	c.381A>G	NM_139241.3	NP_640334.2:p.(Ile127Met)	NC_000012.11:g.32735182A>G	VUS	1 lab	f9d9ecc743
1:160098627 ATP1A2 C>T	1	160098627	160098627	C	T	ATP1A2	c.1203C>T	NM_000702.4	NP_000693.1:p.(Thr401=)	NC_000001.10:g.160098627C>T	(Likely) benign	1 lab	f8cc022222
3:48613836 COL7A1 C>T	3	48613836	48613836	C	T	COL7A1	c.5769G>A	NM_000094.4	NP_000085.1:p.(Glu1923=)	NC_000003.11:g.48613836C>T	(Likely) benign	1 lab	f8cca7f9f3
6:165703371 C6orf118 G>A	6	165703371	165703371	G	A	C6orf118	c.1302+4C>T	NM_144980.4	NP_659417.2:p.?	NC_000006.11:g.165703371G>A	(Likely) benign	1 lab	f8ce2d0893
11:47366659 MYBPC3 C>T	11	47366659	47366659	C	T	MYBPC3	c.1090+1099G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366659C>T	(Likely) benign	1 lab	fa3b57e5f1
10:73491923 C10orf105 G>A	10	73491923	73491923	G	A	C10orf105	c.-6+5562C>T	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73491923G>A	(Likely) benign	1 lab	f8cf8515e5
1:43395452 SLC2A1 C>T	1	43395452	43395452	C	T	SLC2A1	c.680-1G>A	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43395452C>T	(Likely) pathogenic	1 lab	f8cfdc7afa
7:31011620 GHRHR C>G	7	31011620	31011620	C	G	GHRHR	c.507C>G	NM_000823.4	NP_000814.2:p.(Phe169Leu)	NC_000007.13:g.31011620C>G	(Likely) pathogenic	1 lab	f8d07c7ed8
X:110531355 MISSING A>Alt too long to show for this DUP	X	110531355	110561872	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.110531356_110561872dup	VUS	1 lab	f8d44ab504
12:30823724 IPO8 G>C	12	30823724	30823724	G	C	IPO8	c.1044+172C>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30823724G>C	(Likely) benign	1 lab	f8d55370bc
X:132670286 GPC3 C>T	X	132670286	132670286	C	T	GPC3	c.1678G>A	NM_001164617.2	NP_001158089.1:p.(Gly560Arg)	NC_000023.10:g.132670286C>T	VUS	1 lab	f8d6bef01c
10:94413559 KIF11 T>C	10	94413559	94413559	T	C	KIF11	c.*6T>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94413559T>C	(Likely) benign	1 lab	f8d7c98e01
X:57162899 SPIN2A C>T	X	57162899	57162899	C	T	SPIN2A	c.132G>A	NM_019003.4	NP_061876.3:p.(Gln44=)	NC_000023.10:g.57162899C>T	(Likely) benign	1 lab	f8d8d63200
16:28883704 SH2B1 C>T	16	28883704	28883704	C	T	SH2B1	c.1707C>T	NM_015503.3	NP_056318.2:p.(Asn569=)	NC_000016.9:g.28883704C>T	(Likely) benign	1 lab	f8deb15e0e
2:44059066 ABCG5 G>A	2	44059066	44059066	G	A	ABCG5	c.402+20C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059066G>A	(Likely) benign	1 lab	f8e0551f30
16:90002059 TUBB3 C>T	16	90002059	90002059	C	T	TUBB3	c.984C>T	NM_001197181.2	NP_001184110.1:p.(Gly328=)	NC_000016.9:g.90002059C>T	(Likely) benign	1 lab	f8e329158a
22:42463814 NAGA C>T	22	42463814	42463814	C	T	NAGA	c.279G>A	NM_000262.3	NP_000253.1:p.(Pro93=)	NC_000022.10:g.42463814C>T	(Likely) benign	1 lab	f8e55d2e4d
12:32993713 PKP2 C>T	12	32993713	32993713	C	T	PKP2	c.1688+249G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32993713C>T	(Likely) benign	1 lab	f8e69688c7
12:125296399 SCARB1 C>T	12	125296399	125296399	C	T	SCARB1	c.726+17G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296399C>T	(Likely) benign	1 lab	f8ea4a9c9f
9:139440221 NOTCH1 C>A	9	139440221	139440221	C	A	NOTCH1	c.18G>T	NM_017617.5	NP_060087.3:p.(Ala6=)	NC_000009.11:g.139440221C>A	(Likely) benign	1 lab	f8ecd69624
15:22770421 MISSING A>Alt too long to show for this DUP	15	22770421	23286423	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770422_23286423dup	(Likely) benign	1 lab	f8f14909ee
2:220146664 DNAJB2 C>G	2	220146664	220146664	C	G	DNAJB2	c.233C>G	NM_006736.6	NP_006727.2:p.(Thr78Ser)	NC_000002.11:g.220146664C>G	VUS	1 lab	f8fb1c0140
7:106793646 MISSING Ref too long to show for this DEL>G	7	106793646	106938745	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.106793649_106938745del	VUS	1 lab	f9010582b5
19:16593542 CALR3 C>T	19	16593542	16593542	C	T	CALR3	c.733G>A	NM_145046.5	NP_659483.2:p.(Gly245Ser)	NC_000019.9:g.16593542C>T	VUS	1 lab	f90187d82b
3:183858308 EIF2B5 C>T	3	183858308	183858308	C	T	EIF2B5	c.946C>T	NM_003907.3	NP_003898.2:p.(Arg316Ter)	NC_000003.11:g.183858308C>T	(Likely) pathogenic	1 lab	f9039b9735
11:108225614 ATM A>C	11	108225614	108225614	A	C	ATM	c.8850+13A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225614A>C	(Likely) benign	1 lab	f90424700b
16:929842 LMF1 A>C	16	929842	929842	A	C	LMF1	c.730-105T>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929842A>C	VUS	1 lab	84bcf63828
2:56103934 EFEMP1 T>A	2	56103934	56103934	T	A	EFEMP1	c.761-57A>T	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56103934T>A	(Likely) benign	1 lab	f9071deaf9
2:179429452 TTN C>G	2	179429452	179429452	C	G	TTN	c.81407G>C	NM_001267550.2	NP_001254479.2:p.(Gly27136Ala)	NC_000002.11:g.179429452C>G	VUS	1 lab	f90793fd67
2:44079913 ABCG8 C>T	2	44079913	44079913	C	T	ABCG8	c.870C>T	NM_022437.3	NP_071882.1:p.(Thr290=)	NC_000002.11:g.44079913C>T	(Likely) benign	1 lab	f907a51eea
2:179587828 TTN G>A	2	179587828	179587828	G	A	TTN	c.21906C>T	NM_001267550.2	NP_001254479.2:p.(Cys7302=)	NC_000002.11:g.179587828G>A	(Likely) benign	1 lab	f9080dbfa3
1:201330504 TNNT2 G>A	1	201330504	201330504	G	A	TNNT2	c.690-7C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201330504G>A	(Likely) benign	1 lab	f90b58273c
16:88788060 PIEZO1 G>C	16	88788060	88788060	G	C	PIEZO1	c.5289C>G	NM_001142864.4	NP_001136336.2:p.(Tyr1763Ter)	NC_000016.9:g.88788060G>C	(Likely) pathogenic	1 lab	f90bbf033c
6:32037602 TNXB C>T	6	32037602	32037602	C	T	TNXB	c.5315G>A	NM_019105.8	NP_061978.6:p.(Arg1772His)	NC_000006.11:g.32037602C>T	VUS	1 lab	f90c1e40be
11:102201945 BIRC3 GAA>G	11	102201945	102201948	GAA	G	BIRC3	c.1299_1300del	NM_001165.5	NP_001156.1:p.(Arg434SerfsTer3)	NC_000011.9:g.102201947_102201948del	(Likely) pathogenic	1 lab	f90f8c88c3
3:123337556 MYLK A>G	3	123337556	123337556	A	G	MYLK	c.5430T>C	NM_053025.4	NP_444253.3:p.(Tyr1810=)	NC_000003.11:g.123337556A>G	(Likely) benign	1 lab	f91124dc7c
2:71742736 DYSF C>T	2	71742736	71742736	C	T	DYSF	c.757-17C>T	NM_001130981.2	NP_001124453.1:p.?	NC_000002.11:g.71742736C>T	(Likely) benign	1 lab	f916fe1c38
X:130420569 IGSF1 T>C	X	130420569	130420569	T	C	IGSF1	c.70+10A>G	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130420569T>C	(Likely) benign	1 lab	f918ab9fee
3:38597920 SCN5A T>G	3	38597920	38597920	T	G	SCN5A	c.4437+12A>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597920T>G	(Likely) benign	1 lab	f91a0d2844
2:179396702 TTN C>T	2	179396702	179396702	C	T	TTN	c.96936G>A	NM_133378.4	NP_596869.4:p.(Glu32312=)	NC_000002.11:g.179396702C>T	(Likely) benign	1 lab	f91bc8245d
5:127645887 FBN2 G>A	5	127645887	127645887	G	A	FBN2	c.5075-87C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127645887G>A	(Likely) benign	1 lab	f91d54a506
1:211832061 NEK2 CAAAAAAAAAA>C	1	211832061	211832090	CAAAAAAAAAA	C	NEK2	c.1112-17_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832081_211832090del	(Likely) benign	1 lab	f91eb51f98
12:32735236 FGD4 C>T	12	32735236	32735236	C	T	FGD4	c.435C>T	NM_139241.3	NP_640334.2:p.(Asp145=)	NC_000012.11:g.32735236C>T	(Likely) benign	1 lab	f922764fa7
3:46904735 MYL3 C>A	3	46904735	46904735	C	A	MYL3	c.129+17G>T	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46904735C>A	(Likely) benign	1 lab	f923de75e0
1:12062157 MFN2 A>C	1	12062157	12062157	A	C	MFN2	c.1157A>C	NM_014874.4	NP_055689.1:p.(Gln386Pro)	NC_000001.10:g.12062157A>C	(Likely) pathogenic	1 lab	f928ccf45f
1:218607538 TGFB2 G>T	1	218607538	218607538	G	T	TGFB2	c.709G>T	NM_001135599.4	NP_001129071.1:p.(Glu237Ter)	NC_000001.10:g.218607538G>T	(Likely) pathogenic	1 lab	f92b5ce58c
1:66036438 LEPR G>A	1	66036438	66036438	G	A	LEPR	c.323G>A	NM_001003679.3	NP_001003679.1:p.(Gly108Glu)	NC_000001.10:g.66036438G>A	VUS	1 lab	f92bfc89c9
6:7566627 DSP G>C	6	7566627	7566627	G	C	DSP	c.957G>C	NM_004415.4	NP_004406.2:p.(Leu319=)	NC_000006.11:g.7566627G>C	(Likely) benign	1 lab	f92ef1377f
8:22262379 SLC39A14 C>T	8	22262379	22262379	C	T	SLC39A14	c.156C>T	NM_001351660.2	NP_001338589.1:p.(Gly52=)	NC_000008.10:g.22262379C>T	(Likely) benign	1 lab	f93497903d
1:241663902 FH T>TGAGAGAGAGAGAGAGAGAGA	1	241663902	241663940	T	TGAGAGAGAGAGAGAGAGAGA	FH	c.1237-32_1237-13dup	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241663921_241663940dup	(Likely) benign	1 lab	f937fb8046
5:149505092 PDGFRB C>T	5	149505092	149505092	C	T	PDGFRB	c.1723G>A	NM_002609.4	NP_002600.1:p.(Asp575Asn)	NC_000005.9:g.149505092C>T	VUS	1 lab	f93aa48c06
9:107578636 ABCA1 C>A	9	107578636	107578636	C	A	ABCA1	c.3536-10G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578636C>A	(Likely) benign	1 lab	f93b13cdd6
10:75860779 VCL C>T	10	75860779	75860779	C	T	VCL	c.1946C>T	NM_003373.4	NP_003364.1:p.(Ala649Val)	NC_000010.10:g.75860779C>T	VUS	1 lab	f9404c01ba
2:179559308 TTN A>G	2	179559308	179559308	A	G	TTN	c.31426+18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559308A>G	(Likely) benign	1 lab	f9422d6baf
16:88505170 ZNF469 C>A	16	88505170	88505170	C	A	ZNF469	c.11292C>A	NM_001367624.2	NP_001354553.1:p.(Thr3764=)	NC_000016.9:g.88505170C>A	(Likely) benign	1 lab	f946670c09
18:45394858 SMAD2 G>A	18	45394858	45394858	G	A	SMAD2	c.521-30C>T	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45394858G>A	(Likely) benign	1 lab	f94673c653
19:47259505 FKRP G>A	19	47259505	47259505	G	A	FKRP	c.798G>A	NM_001039885.3	NP_001034974.1:p.(Ala266=)	NC_000019.9:g.47259505G>A	(Likely) benign	1 lab	f9474105c3
11:76912503 MYO7A G>A	11	76912503	76912503	G	A	MYO7A	c.4863G>A	NM_000260.4	NP_000251.3:p.(Glu1621=)	NC_000011.9:g.76912503G>A	(Likely) benign	1 lab	f949d0ff78
21:34882121 GART C>CT	21	34882121	34882131	C	CT	GART	c.2420dup	NM_001136005.1	NP_001129477.1:p.(Ala808GlyfsTer26)	NC_000021.8:g.34882131dup	(Likely) benign	1 lab	f94ae239a5
6:135776817 AHI1 TGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGG>T	6	135776817	135776855	TGTGCTATTAAATATTAACTATCGTTTAATTTGAATTGG	T	AHI1	c.1344+17_1344+54del	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135776818_135776855del	(Likely) benign	1 lab	f94f01e1df
2:179483519 TTN T>TG	2	179483519	179483520	T	TG	TTN	c.46757dup	NM_001267550.2	NP_001254479.2:p.(Met15587AsnfsTer6)	NC_000002.11:g.179483520dup	(Likely) pathogenic	1 lab	f95208b9ca
17:63200355 RGS9 T>A	17	63200355	63200355	T	A	RGS9	c.1139T>A	NM_003835.4	NP_003826.2:p.(Leu380Gln)	NC_000017.10:g.63200355T>A	VUS	1 lab	f9521c8d77
12:88449343 CEP290 C>T	12	88449343	88449343	C	T	CEP290	c.6960+10G>A	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88449343C>T	(Likely) benign	1 lab	f954b091f1
X:31676254 DMD G>A	X	31676254	31676254	G	A	DMD	c.7511C>T	NM_004010.3	NP_004001.1:p.(Ala2504Val)	NC_000023.10:g.31676254G>A	VUS	1 lab	f99b64b5f7
2:114035978 PAX8 G>A	2	114035978	114035978	G	A	PAX8	c.-7C>T	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.114035978G>A	(Likely) benign	1 lab	f954cf29d1
9:107558450 ABCA1 C>G	9	107558450	107558450	C	G	ABCA1	c.5266G>C	NM_005502.4	NP_005493.2:p.(Ala1756Pro)	NC_000009.11:g.107558450C>G	VUS	1 lab	f954f5a83b
9:101910391 TGFBR1 G>C	9	101910391	101910391	G	C	TGFBR1	c.1386+325G>C	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101910391G>C	(Likely) benign	1 lab	f956166868
7:81593514 CACNA2D1 AT>A	7	81593514	81593516	AT	A	CACNA2D1	c.2763+8del	NM_001366867.1	NP_001353796.1:p.?	NC_000007.13:g.81593516del	(Likely) benign	1 lab	f95889176b
5:90445826 ADGRV1 C>CT	5	90445826	90445842	C	CT	ADGRV1	c.18433-5dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90445842dup	(Likely) benign	1 lab	f959223a1a
15:33145709 FMN1 Ref too long to show for this DEL>A	15	33145709	33220645	Ref too long to show for this DEL	A	FMN1	c.3139-2183_3928+3506del	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33145710_33220645del	VUS	1 lab	f95ca763c3
X:114869345 PLS3 A>G	X	114869345	114869345	A	G	PLS3	c.669A>G	NM_001282337.2	NP_001269266.1:p.(Leu223=)	NC_000023.10:g.114869345A>G	(Likely) benign	1 lab	f95db266b9
16:88804618 PIEZO1 G>A	16	88804618	88804618	G	A	PIEZO1	c.848+17C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88804618G>A	(Likely) benign	1 lab	f9603dd1e1
3:38592807 SCN5A C>A	3	38592807	38592807	C	A	SCN5A	c.5056G>T	NM_198056.3	NP_932173.1:p.(Ala1686Ser)	NC_000003.11:g.38592807C>A	VUS	1 lab	f960699b0a
12:51733431 MISSING Ref too long to show for this DEL>A	12	51733431	51740749	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.51733434_51740749del	VUS	1 lab	f963a5590d
7:128487932 FLNC G>A	7	128487932	128487932	G	A	FLNC	c.4456+14G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487932G>A	(Likely) benign	1 lab	f968d952a1
8:19813464 LPL C>CT	8	19813464	19813467	C	CT	LPL	c.891dup	NM_000237.3	NP_000228.1:p.(Glu298Ter)	NC_000008.10:g.19813467dup	(Likely) pathogenic	1 lab	f96908a342
4:100522592 MTTP C>T	4	100522592	100522592	C	T	MTTP	c.1237-172C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522592C>T	(Likely) benign	1 lab	f96a37ae48
16:88504450 ZNF469 C>T	16	88504450	88504450	C	T	ZNF469	c.10572C>T	NM_001367624.2	NP_001354553.1:p.(Pro3524=)	NC_000016.9:g.88504450C>T	(Likely) benign	1 lab	f96ff67ca8
1:216246483 USH2A C>T	1	216246483	216246483	C	T	USH2A	c.5732G>A	NM_206933.4	NP_996816.3:p.(Gly1911Glu)	NC_000001.10:g.216246483C>T	VUS	1 lab	f97094d859
11:118376368 KMT2A A>G	11	118376368	118376368	A	G	KMT2A	c.9761A>G	NM_001197104.2	NP_001184033.1:p.(Asn3254Ser)	NC_000011.9:g.118376368A>G	VUS	1 lab	f976729dc2
2:179658248 TTN C>T	2	179658248	179658248	C	T	TTN	c.1419G>A	NM_001267550.2	NP_001254479.2:p.(Lys473=)	NC_000002.11:g.179658248C>T	(Likely) benign	1 lab	f97768d1be
2:231404041 SP100 C>T	2	231404041	231404041	C	T	SP100	c.2154C>T	NM_001080391.2	NP_001073860.1:p.(Asp718=)	NC_000002.11:g.231404041C>T	(Likely) benign	1 lab	f97d86e3ad
11:47357511 MYBPC3 G>A	11	47357511	47357511	G	A	MYBPC3	c.2654C>T	NM_000256.3	NP_000247.2:p.(Thr885Met)	NC_000011.9:g.47357511G>A	VUS	1 lab	f99218b4d9
2:220079728 ABCB6 C>T	2	220079728	220079728	C	T	ABCB6	c.1231G>A	NM_005689.4	NP_005680.1:p.(Ala411Thr)	NC_000002.11:g.220079728C>T	(Likely) benign	1 lab	f97f530628
8:134261010 NDRG1 G>A	8	134261010	134261010	G	A	NDRG1	c.703C>T	NM_001135242.2	NP_001128714.1:p.(Arg235Cys)	NC_000008.10:g.134261010G>A	VUS	1 lab	f98046e4f4
1:12056281 MFN2 G>T	1	12056281	12056281	G	T	MFN2	c.380G>T	NM_014874.4	NP_055689.1:p.(Gly127Val)	NC_000001.10:g.12056281G>T	(Likely) pathogenic	1 lab	f98300bfb3
12:50501819 GPD1 C>G	12	50501819	50501819	C	G	GPD1	c.859C>G	NM_005276.4	NP_005267.2:p.(Leu287Val)	NC_000012.11:g.50501819C>G	VUS	1 lab	f983ed61be
2:179459270 TTN A>T	2	179459270	179459270	A	T	TTN	c.57951T>A	NM_001267550.2	NP_001254479.2:p.(Ile19317=)	NC_000002.11:g.179459270A>T	(Likely) benign	1 lab	f984098e73
2:179516709 TTN G>C	2	179516709	179516709	G	C	TTN	c.39296-15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516709G>C	(Likely) benign	1 lab	f9855e2b52
2:179456600 TTN C>T	2	179456600	179456600	C	T	TTN	c.59946G>A	NM_001267550.2	NP_001254479.2:p.(Lys19982=)	NC_000002.11:g.179456600C>T	(Likely) benign	1 lab	f986f43121
2:21232795 APOB C>T	2	21232795	21232795	C	T	APOB	c.6945G>A	NM_000384.3	NP_000375.3:p.(Glu2315=)	NC_000002.11:g.21232795C>T	(Likely) benign	1 lab	f987922c11
19:13387926 CACNA1A T>C	19	13387926	13387926	T	C	CACNA1A	c.3851A>G	NM_023035.3	NP_075461.2:p.(Asp1284Gly)	NC_000019.9:g.13387926T>C	VUS	1 lab	f9898eda08
6:56346861 DST A>G	6	56346861	56346861	A	G	DST	c.15161T>C	NM_001144769.5	NP_001138241.1:p.(Ile5054Thr)	NC_000006.11:g.56346861A>G	VUS	1 lab	f98bbfb47e
11:5247765 HBB A>G	11	5247765	5247765	A	G	HBB	c.315+42T>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247765A>G	(Likely) pathogenic	1 lab	f98c49028f
6:32063681 TNXB C>T	6	32063681	32063681	C	T	TNXB	c.1949G>A	NM_019105.8	NP_061978.6:p.(Arg650His)	NC_000006.11:g.32063681C>T	(Likely) benign	1 lab	f98dc6f603
10:32197447 MISSING Ref too long to show for this DEL>G	10	32197447	32248938	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.32197448_32248938del	VUS	1 lab	f991aa6e14
1:245023695 HNRNPU CAAAGA>C	1	245023695	245023704	CAAAGA	C	HNRNPU	c.954_958del	NM_031844.3	NP_114032.2:p.(Phe318LeufsTer18)	NC_000001.10:g.245023700_245023704del	(Likely) pathogenic	1 lab	f993790382
4:190883085 FRG1 C>T	4	190883085	190883085	C	T	FRG1	c.738C>T	NM_004477.3	NP_004468.1:p.(Asp246=)	NC_000004.11:g.190883085C>T	(Likely) benign	1 lab	f999d2a071
11:116708122 APOA1 A>G	11	116708122	116708122	A	G	APOA1	c.-19T>C	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116708122A>G	(Likely) benign	1 lab	f999f3c294
16:29517696 MISSING G>Alt too long to show for this DUP	16	29517696	30177240	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29517698_30177240dup	(Likely) pathogenic	1 lab	f99a58e515
4:100485334 MTTP G>GT	4	100485334	100485340	G	GT	MTTP	c.-243dup	NM_001300785.2	NP_001287714.2:p.?	NC_000004.11:g.100485340dup	(Likely) pathogenic	1 lab	f99cf64e1d
1:120385235 MISSING Ref too long to show for this DEL>C	1	120385235	120398337	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.120385238_120398337del	VUS	1 lab	f99f195e94
2:179402124 TTN G>A	2	179402124	179402124	G	A	TTN	c.99810C>T	NM_001267550.2	NP_001254479.2:p.(Val33270=)	NC_000002.11:g.179402124G>A	(Likely) benign	1 lab	f9a1477e0e
7:100067864 MISSING Ref too long to show for this DEL>G	7	100067864	100433357	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.100067865_100433357del	(Likely) pathogenic	1 lab	f9a1a5786b
2:238434402 MLPH G>A	2	238434402	238434402	G	A	MLPH	c.834G>A	NM_024101.7	NP_077006.1:p.(Pro278=)	NC_000002.11:g.238434402G>A	(Likely) benign	1 lab	f9ab779a90
X:131261826 FRMD7 A>G	X	131261826	131261826	A	G	FRMD7	c.47T>C	NM_194277.3	NP_919253.1:p.(Phe16Ser)	NC_000023.10:g.131261826A>G	(Likely) pathogenic	1 lab	f9ac7ed8bf
9:71580312 MISSING G>Alt too long to show for this DUP	9	71580312	71841120	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.71580313_71841120dup	VUS	1 lab	f9b00b064e
3:30715359 TGFBR2 C>T	3	30715359	30715359	C	T	TGFBR2	c.1255-238C>T	NM_003242.6	NP_003233.4:p.?	NC_000003.11:g.30715359C>T	(Likely) benign	1 lab	f9b503f0b8
22:22989594 GGTLC2 G>C	22	22989594	22989594	G	C	GGTLC2	c.446G>C	NM_001282879.1	NP_001269808.1:p.(Arg149Pro)	NC_000022.10:g.22989594G>C	(Likely) benign	1 lab	f9b598ac76
2:179484838 TTN A>G	2	179484838	179484838	A	G	TTN	c.46306T>C	NM_001267550.2	NP_001254479.2:p.(Tyr15436His)	NC_000002.11:g.179484838A>G	VUS	1 lab	f9b72cbd36
1:1720508 GNB1 G>A	1	1720508	1720508	G	A	GNB1	c.900C>T	NM_002074.5	NP_002065.1:p.(Leu300=)	NC_000001.10:g.1720508G>A	(Likely) benign	1 lab	f9b82b2e8d
11:47353736 MYBPC3 C>A	11	47353736	47353736	C	A	MYBPC3	c.3701G>T	NM_000256.3	NP_000247.2:p.(Gly1234Val)	NC_000011.9:g.47353736C>A	(Likely) pathogenic	1 lab	f9b9597798
4:110772650 LRIT3 G>T	4	110772650	110772650	G	T	LRIT3	c.117-10G>T	NM_198506.5	NP_940908.3:p.?	NC_000004.11:g.110772650G>T	(Likely) benign	1 lab	f9b98a85f0
2:21229220 APOB C>G	2	21229220	21229220	C	G	APOB	c.10520G>C	NM_000384.3	NP_000375.3:p.(Arg3507Pro)	NC_000002.11:g.21229220C>G	(Likely) pathogenic	1 lab	f9bc07dfb7
11:1017044 MUC6 A>C	11	1017044	1017044	A	C	MUC6	c.5757T>G	NM_005961.3	NP_005952.2:p.(Pro1919=)	NC_000011.9:g.1017044A>C	(Likely) benign	1 lab	f9bc3ba0a0
5:95732986 PCSK1 T>C	5	95732986	95732986	T	C	PCSK1	c.1722+54A>G	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95732986T>C	(Likely) benign	1 lab	f9c38fc25d
9:107563397 ABCA1 T>TAAA	9	107563397	107563409	T	TAAA	ABCA1	c.4699-535_4699-533dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563407_107563409dup	(Likely) benign	1 lab	f9c3e5196f
18:21124904 NPC1 A>ACCCC	18	21124904	21124907	A	ACCCC	NPC1	c.1947+19_1947+20insGGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124906_21124907insCCCC	(Likely) benign	1 lab	f9c75af22a
2:73676148 ALMS1 G>A	2	73676148	73676148	G	A	ALMS1	c.2497G>A	NM_015120.4	NP_055935.4:p.(Glu833Lys)	NC_000002.11:g.73676148G>A	(Likely) benign	1 lab	f9c8ca8dda
X:153609536 EMD TGAAGAA>T	X	153609536	153609543	TGAAGAA	T	EMD	c.746_751del	NM_000117.3	NP_000108.1:p.(Glu249_Glu250del)	NC_000023.10:g.153609538_153609543del	(Likely) benign	1 lab	f9cb592334
1:22159867 HSPG2 C>T	1	22159867	22159867	C	T	HSPG2	c.10992G>A	NM_001291860.2	NP_001278789.1:p.(Val3664=)	NC_000001.10:g.22159867C>T	(Likely) benign	1 lab	f9cdfaf16b
16:30098189 TBX6 GTGA>G	16	30098189	30098206	GTGA	G	TBX6	c.840-20_840-18del	NM_004608.4	NP_004599.2:p.?	NC_000016.9:g.30098204_30098206del	(Likely) benign	1 lab	f9d09c209c
19:48809582 ODAD1 T>C	19	48809582	48809582	T	C	ODAD1	c.598-2A>G	NM_001364171.2	NP_001351100.1:p.?	NC_000019.9:g.48809582T>C	(Likely) pathogenic	1 lab	f9d97d1333
4:166416793 CPE A>C	4	166416793	166416793	A	C	CPE	c.1296A>C	NM_001873.4	NP_001864.1:p.(Thr432=)	NC_000004.11:g.166416793A>C	(Likely) benign	1 lab	f9dbabecd5
11:102207771 BIRC3 TTAAG>T	11	102207771	102207775	TTAAG	T	BIRC3	c.1754_1757del	NM_001165.5	NP_001156.1:p.(Leu585Ter)	NC_000011.9:g.102207772_102207775del	VUS	1 lab	f9dcf7a86d
11:119217098 MFRP A>ATAC	11	119217098	119217102	A	ATAC	MFRP	c.55-17_55-15dup	NM_031433.4	NP_113621.1:p.?	NC_000011.9:g.119217100_119217102dup	(Likely) benign	1 lab	f9f492df21
2:168830050 STK39 Ref too long to show for this DEL>T	2	168830050	168870674	Ref too long to show for this DEL	T	STK39	c.1430-1462_1499-8815del	NM_013233.3	NP_037365.2:p.?	NC_000002.11:g.168830051_168870674del	VUS	1 lab	f9de3ccf0c
7:81388042 HGF T>C	7	81388042	81388042	T	C	HGF	c.333A>G	NM_000601.6	NP_000592.3:p.(Glu111=)	NC_000007.13:g.81388042T>C	(Likely) benign	1 lab	f9de8740a3
22:39627784 PDGFB C>T	22	39627784	39627784	C	T	PDGFB	c.299G>A	NM_002608.4	NP_002599.1:p.(Arg100His)	NC_000022.10:g.39627784C>T	VUS	1 lab	f9e27d43ac
20:30432355 MISSING A>G	20	30432355	30432355	A	G	MISSING				NC_000020.10:g.30432355A>G	VUS	1 lab	f9e637673d
7:151927067 KMT2C T>C	7	151927067	151927067	T	C	KMT2C	c.2917A>G	NM_170606.3	NP_733751.2:p.(Arg973Gly)	NC_000007.13:g.151927067T>C	(Likely) benign	1 lab	f9e6f36323
6:112435343 LAMA4 C>A	6	112435343	112435343	C	A	LAMA4	c.5241G>T	NM_002290.5	NP_002281.3:p.(Val1747=)	NC_000006.11:g.112435343C>A	(Likely) benign	1 lab	f9e71c8784
13:93925050 GPC6 T>Alt too long to show for this DUP	13	93925050	94293342	T	Alt too long to show for this DUP	GPC6	c.160+45182_319+95668dup	NM_005708.5	NP_005699.1:p.?	NC_000013.10:g.93925051_94293342dup	VUS	1 lab	f9ed1e863d
11:4370853 MISSING C>Alt too long to show for this DUP	11	4370853	4910326	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.4370854_4910326dup	VUS	1 lab	f9f1b83437
1:25889422 LDLRAP1 C>T	1	25889422	25889422	C	T	LDLRAP1	c.533-139C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889422C>T	(Likely) benign	1 lab	f9f218b176
X:107975806 IRS4 G>T	X	107975806	107975806	G	T	IRS4	c.3769C>A	NM_003604.2	NP_003595.1:p.(Arg1257=)	NC_000023.10:g.107975806G>T	(Likely) benign	1 lab	f9f2dbd1e0
2:230657702 TRIP12 G>T	2	230657702	230657702	G	T	TRIP12	c.4047C>A	NM_001284214.2	NP_001271143.1:p.(Tyr1349Ter)	NC_000002.11:g.230657702G>T	(Likely) pathogenic	1 lab	f9f2fb353d
2:179583215 TTN C>T	2	179583215	179583215	C	T	TTN	c.24618G>A	NM_001267550.2	NP_001254479.2:p.(Lys8206=)	NC_000002.11:g.179583215C>T	(Likely) benign	1 lab	f9f3a77fb1
X:47611850 MISSING G>Alt too long to show for this DUP	X	47611850	48052652	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47611851_48052652dup	(Likely) pathogenic	1 lab	f9f6b1b5d5
8:144296819 GPIHBP1 G>C	8	144296819	144296819	G	C	GPIHBP1	c.182-69G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296819G>C	(Likely) benign	1 lab	f9f982b50e
5:82834948 VCAN C>T	5	82834948	82834948	C	T	VCAN	c.6126C>T	NM_004385.5	NP_004376.2:p.(Asp2042=)	NC_000005.9:g.82834948C>T	(Likely) benign	1 lab	f9fc8f96a5
4:122765124 BBS7 A>G	4	122765124	122765124	A	G	BBS7	c.1263T>C	NM_176824.3	NP_789794.1:p.(Asp421=)	NC_000004.11:g.122765124A>G	(Likely) benign	1 lab	f9fe912eb1
2:179401234 TTN TCC>T	2	179401234	179401236	TCC	T	TTN	c.100238_100239del	NM_001267550.2	NP_001254479.2:p.(Trp33413Ter)	NC_000002.11:g.179401235_179401236del	(Likely) pathogenic	1 lab	fa00bbc6ab
5:127622491 FBN2 T>C	5	127622491	127622491	T	C	FBN2	c.6931A>G	NM_001999.4	NP_001990.2:p.(Met2311Val)	NC_000005.9:g.127622491T>C	(Likely) benign	1 lab	fa00d547be
17:40690433 NAGLU G>A	17	40690433	40690433	G	A	NAGLU	c.608G>A	NM_000263.4	NP_000254.2:p.(Arg203Gln)	NC_000017.10:g.40690433G>A	(Likely) pathogenic	1 lab	fa0184fbeb
2:174047600 MAP3K20 C>T	2	174047600	174047600	C	T	MAP3K20	c.266C>T	NM_133646.3	NP_598407.1:p.(Ser89Leu)	NC_000002.11:g.174047600C>T	VUS	1 lab	fa0208a58d
1:235582810 TBCE G>A	1	235582810	235582810	G	A	TBCE	c.394G>A	NM_001287801.2	NP_001274730.1:p.(Val132Ile)	NC_000001.10:g.235582810G>A	VUS	1 lab	fa02ddc35f
X:106888388 PRPS1 A>T	X	106888388	106888388	A	T	PRPS1	c.531-19A>T	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106888388A>T	(Likely) benign	1 lab	fa0371bd73
X:69712244 MISSING T>Alt too long to show for this DUP	X	69712244	69752249	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69712245_69752249dup	VUS	1 lab	fa03cf7e35
7:82763800 PCLO TTC>T	7	82763800	82763803	TTC	T	PCLO	c.3064_3065del	NM_033026.6	NP_149015.2:p.(Glu1022AsnfsTer9)	NC_000007.13:g.82763802_82763803del	VUS	1 lab	fa03e4b6f3
8:59409167 CYP7A1 T>C	8	59409167	59409167	T	C	CYP7A1	c.904A>G	NM_000780.4	NP_000771.2:p.(Ile302Val)	NC_000008.10:g.59409167T>C	VUS	1 lab	fa0468f1b6
X:41333030 NYX C>T	X	41333030	41333030	C	T	NYX	c.324C>T	NM_022567.2	NP_072089.1:p.(Gly108=)	NC_000023.10:g.41333030C>T	(Likely) benign	1 lab	fa046a540c
10:88672083 BMPR1A TA>T	10	88672083	88672087	TA	T	BMPR1A	c.621del	NM_004329.3	NP_004320.2:p.(Asp208ThrfsTer53)	NC_000010.10:g.88672087del	(Likely) pathogenic	1 lab	fa04e887e4
2:121554896 GLI2 G>C	2	121554896	121554896	G	C	GLI2	c.-1G>C	NM_001371271.1	NP_001358200.1:p.?	NC_000002.11:g.121554896G>C	(Likely) benign	1 lab	fa05a31d76
13:70681733 KLHL1 C>T	13	70681733	70681733	C	T	KLHL1	c.99G>A	NM_020866.3	NP_065917.1:p.(Ala33=)	NC_000013.10:g.70681733C>T	(Likely) benign	1 lab	fa0766a462
19:10251020 DNMT1 C>T	19	10251020	10251020	C	T	DNMT1	c.3524-16G>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10251020C>T	(Likely) benign	1 lab	fa091c8895
15:81281900 MESD G>A	15	81281900	81281900	G	A	MESD	c.213+20C>T	NM_015154.3	NP_055969.1:p.?	NC_000015.9:g.81281900G>A	(Likely) benign	1 lab	fa0d11e092
1:35250930 GJB3 C>T	1	35250930	35250930	C	T	GJB3	c.567C>T	NM_024009.3	NP_076872.1:p.(Tyr189=)	NC_000001.10:g.35250930C>T	(Likely) benign	1 lab	fa0d2496b5
9:94809996 SPTLC1 G>A	9	94809996	94809996	G	A	SPTLC1	c.889-6C>T	NM_006415.4	NP_006406.1:p.?	NC_000009.11:g.94809996G>A	(Likely) benign	1 lab	fa110a4ddf
3:38648249 SCN5A C>T	3	38648249	38648249	C	T	SCN5A	c.1051G>A	NM_198056.3	NP_932173.1:p.(Gly351Ser)	NC_000003.11:g.38648249C>T	VUS	1 lab	fa127a50c5
9:136218824 SURF1 CAG>C	9	136218824	136218830	CAG	C	SURF1	c.845_846del	NM_003172.4	NP_003163.1:p.(Ser282CysfsTer9)	NC_000009.11:g.136218829_136218830del	(Likely) pathogenic	1 lab	fa130f120c
7:128488841 FLNC C>A	7	128488841	128488841	C	A	FLNC	c.4738-6C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488841C>A	VUS	1 lab	fa132868cb
2:179633627 TTN T>C	2	179633627	179633627	T	C	TTN	c.8936A>G	NM_001267550.2	NP_001254479.2:p.(Asn2979Ser)	NC_000002.11:g.179633627T>C	VUS	1 lab	fa1a388fcb
2:202430452 CATSPERT C>T	2	202430452	202430452	C	T	CATSPERT	c.977G>A	NM_001168221.2	NP_001161693.1:p.(Arg326Lys)	NC_000002.11:g.202430452C>T	(Likely) benign	1 lab	fa1bd98c9d
10:75868821 VCL G>A	10	75868821	75868821	G	A	VCL	c.2652G>A	NM_003373.4	NP_003364.1:p.(Glu884=)	NC_000010.10:g.75868821G>A	(Likely) benign	1 lab	fa2588ea6f
2:219922350 IHH G>A	2	219922350	219922350	G	A	IHH	c.382C>T	NM_002181.4	NP_002172.2:p.(Arg128Trp)	NC_000002.11:g.219922350G>A	VUS	1 lab	fa2b6a5f0b
15:85399654 ALPK3 C>G	15	85399654	85399654	C	G	ALPK3	c.1685C>G	NM_020778.5	NP_065829.4:p.(Thr562Ser)	NC_000015.9:g.85399654C>G	VUS	1 lab	fa2bd66082
2:179647713 TTN C>A	2	179647713	179647713	C	A	TTN	c.2920G>T	NM_001267550.2	NP_001254479.2:p.(Val974Leu)	NC_000002.11:g.179647713C>A	VUS	1 lab	fa2d1d0b04
5:149465929 CSF1R G>A	5	149465929	149465929	G	A	CSF1R	c.49+13C>T	NM_005211.4	NP_005202.2:p.?	NC_000005.9:g.149465929G>A	(Likely) benign	1 lab	fa2d2af831
22:41913529 ACO2 A>C	22	41913529	41913529	A	C	ACO2	c.836-2A>C	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41913529A>C	(Likely) pathogenic	1 lab	fa30e0df6d
19:11230864 LDLR TC>T	19	11230864	11230868	TC	T	LDLR	c.1946del	NM_000527.5	NP_000518.1:p.(Pro649GlnfsTer16)	NC_000019.9:g.11230868del	(Likely) pathogenic	1 lab	fa344e26aa
16:88802832 PIEZO1 G>A	16	88802832	88802832	G	A	PIEZO1	c.1297-16C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88802832G>A	(Likely) benign	1 lab	fa3506cdc3
11:68696694 IGHMBP2 C>T	11	68696694	68696694	C	T	IGHMBP2	c.1104C>T	NM_002180.3	NP_002171.2:p.(Tyr368=)	NC_000011.9:g.68696694C>T	(Likely) benign	1 lab	fa3989b1ca
2:44051148 ABCG5 T>C	2	44051148	44051148	T	C	ABCG5	c.1228A>G	NM_022436.3	NP_071881.1:p.(Asn410Asp)	NC_000002.11:g.44051148T>C	VUS	1 lab	fa3a0c6d5e
13:32953892 BRCA2 CTGAG>C	13	32953892	32953897	CTGAG	C	BRCA2	c.8961_8964del	NM_000059.4	NP_000050.3:p.(Ser2988PhefsTer12)	NC_000013.10:g.32953894_32953897del	(Likely) pathogenic	1 lab	fa3c9c7aab
19:11224254 LDLR G>A	19	11224254	11224254	G	A	LDLR	c.1402G>A	NM_000527.5	NP_000518.1:p.(Val468Ile)	NC_000019.9:g.11224254G>A	(Likely) benign	1 lab	fa3d3a7779
2:44058908 ABCG5 C>T	2	44058908	44058908	C	T	ABCG5	c.501G>A	NM_022436.3	NP_071881.1:p.(Lys167=)	NC_000002.11:g.44058908C>T	(Likely) pathogenic	1 lab	fa42a037db
19:11226844 LDLR C>G	19	11226844	11226844	C	G	LDLR	c.1661C>G	NM_000527.5	NP_000518.1:p.(Ser554Trp)	NC_000019.9:g.11226844C>G	VUS	1 lab	fa4cb3349d
6:16129498 MYLIP G>T	6	16129498	16129498	G	T	MYLIP	c.-56G>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129498G>T	(Likely) benign	1 lab	fa4d132c86
2:179459099 TTN G>C	2	179459099	179459099	G	C	TTN	c.58122C>G	NM_001267550.2	NP_001254479.2:p.(Thr19374=)	NC_000002.11:g.179459099G>C	(Likely) benign	1 lab	fa52f8c198
2:44079752 ABCG8 G>A	2	44079752	44079752	G	A	ABCG8	c.709G>A	NM_022437.3	NP_071882.1:p.(Asp237Asn)	NC_000002.11:g.44079752G>A	VUS	1 lab	fa542a1b53
2:179582308 TTN A>C	2	179582308	179582308	A	C	TTN	c.25293T>G	NM_001267550.2	NP_001254479.2:p.(Asn8431Lys)	NC_000002.11:g.179582308A>C	VUS	1 lab	fa54d96c22
12:76763730 MISSING A>Alt too long to show for this DUP	12	76763730	77019272	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.76763732_77019272dup	VUS	1 lab	fa55e4ccfd
18:29101153 DSG2 C>T	18	29101153	29101153	C	T	DSG2	c.470C>T	NM_001943.5	NP_001934.2:p.(Pro157Leu)	NC_000018.9:g.29101153C>T	VUS	1 lab	fa569ae461
2:179650411 TTN C>A	2	179650411	179650411	C	A	TTN	c.2429G>T	NM_001267550.2	NP_001254479.2:p.(Arg810Leu)	NC_000002.11:g.179650411C>A	VUS	1 lab	fa5aed80f0
19:11213400 LDLR C>T	19	11213400	11213400	C	T	LDLR	c.251C>T	NM_000527.5	NP_000518.1:p.(Pro84Leu)	NC_000019.9:g.11213400C>T	(Likely) pathogenic	1 lab	fa5c3be483
17:75398332 SEPTIN9 C>T	17	75398332	75398332	C	T	SEPTIN9	c.214C>T	NM_006640.5	NP_006631.2:p.(Leu72=)	NC_000017.10:g.75398332C>T	(Likely) benign	1 lab	fa5e3679ec
22:50665287 TUBGCP6 G>C	22	50665287	50665287	G	C	TUBGCP6	c.1492-16C>G	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50665287G>C	(Likely) benign	1 lab	fa61adccaf
15:31073735 MISSING Ref too long to show for this DEL>G	15	31073735	32444044	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.31073736_32444044del	(Likely) pathogenic	1 lab	fa62e458fd
15:63356347 TPM1 C>T	15	63356347	63356347	C	T	TPM1	c.*2C>T	NM_000366.6	NP_000357.3:p.?	NC_000015.9:g.63356347C>T	(Likely) benign	1 lab	fa634dc674
19:47258653 FKRP C>T	19	47258653	47258653	C	T	FKRP	c.-39-16C>T	NM_024301.5	NP_077277.1:p.?	NC_000019.9:g.47258653C>T	(Likely) benign	1 lab	fa67c91cac
9:107576449 ABCA1 G>A	9	107576449	107576449	G	A	ABCA1	c.3851C>T	NM_005502.4	NP_005493.2:p.(Pro1284Leu)	NC_000009.11:g.107576449G>A	VUS	1 lab	fa6bcae40b
11:66290983 BBS1 T>C	11	66290983	66290983	T	C	BBS1	c.887T>C	NM_024649.5	NP_078925.3:p.(Ile296Thr)	NC_000011.9:g.66290983T>C	VUS	1 lab	fa6dbf5202
11:2549249 KCNQ1 G>A	11	2549249	2549249	G	A	KCNQ1	c.477+1G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2549249G>A	(Likely) pathogenic	1 lab	fa6ed3891b
16:17202729 XYLT1 C>T	16	17202729	17202729	C	T	XYLT1	c.2703G>A	NM_022166.4	NP_071449.1:p.(Ala901=)	NC_000016.9:g.17202729C>T	(Likely) benign	1 lab	fa6f339832
5:112175960 APC A>G	5	112175960	112175960	A	G	APC	c.4669A>G	NM_000038.6	NP_000029.2:p.(Ile1557Val)	NC_000005.9:g.112175960A>G	(Likely) benign	1 lab	fa74a786be
17:41228540 BRCA1 A>T	17	41228540	41228540	A	T	BRCA1	c.4449T>A	NM_007294.4	NP_009225.1:p.(Ser1483Arg)	NC_000017.10:g.41228540A>T	(Likely) benign	1 lab	fa7e6ff74c
18:29125676 DSG2 C>G	18	29125676	29125676	C	G	DSG2	c.2335-8C>G	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29125676C>G	(Likely) benign	1 lab	fafa81b088
18:9188372 MISSING Ref too long to show for this DEL>T	18	9188372	11095220	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.9188374_11095220del	VUS	1 lab	fa856562d7
1:25870198 LDLRAP1 G>C	1	25870198	25870198	G	C	LDLRAP1	c.9G>C	NM_015627.3	NP_056442.2:p.(Ala3=)	NC_000001.10:g.25870198G>C	(Likely) benign	1 lab	fa857baa42
10:76991118 MISSING G>Alt too long to show for this DUP	10	76991118	77082239	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.76991119_77082239dup	VUS	1 lab	fa868241f9
2:48023223 MSH6 AGTT>A	2	48023223	48023229	AGTT	A	MSH6	c.627+25_627+27del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48023227_48023229del	(Likely) benign	1 lab	fa8846b714
11:119212363 C1QTNF5 C>T	11	119212363	119212363	C	T	C1QTNF5	c.-1002G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119212363C>T	(Likely) benign	1 lab	fa885d1d7b
19:11224129 LDLR A>G	19	11224129	11224129	A	G	LDLR	c.1358+4A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224129A>G	(Likely) pathogenic	1 lab	fa8b48dd27
9:136220584 SURF1 C>T	9	136220584	136220584	C	T	SURF1	c.515+20G>A	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136220584C>T	(Likely) benign	1 lab	fa8ed8c6f9
17:48273838 COL1A1 C>T	17	48273838	48273838	C	T	COL1A1	c.903+7G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273838C>T	(Likely) benign	1 lab	fa8ef156fd
8:59405103 CYP7A1 GA>G	8	59405103	59405110	GA	G	CYP7A1	c.1040-17del	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59405110del	(Likely) benign	1 lab	fa90059d47
X:153217091 HCFC1 C>G	X	153217091	153217091	C	G	HCFC1	c.5328G>C	NM_005334.3	NP_005325.2:p.(Gln1776His)	NC_000023.10:g.153217091C>G	VUS	1 lab	fa91b1e25b
8:133920568 TG G>A	8	133920568	133920568	G	A	TG	c.3985G>A	NM_003235.5	NP_003226.4:p.(Gly1329Ser)	NC_000008.10:g.133920568G>A	VUS	1 lab	fa923c0a84
3:75787174 ZNF717 G>T	3	75787174	75787174	G	T	ZNF717	c.1600C>A	NM_001128223.3	NP_001121695.1:p.(Pro534Thr)	NC_000003.11:g.75787174G>T	(Likely) benign	1 lab	fa947031da
9:91934555 SECISBP2 A>G	9	91934555	91934555	A	G	SECISBP2	c.-168-12A>G	NM_001282690.1	NP_001269619.1:p.?	NC_000009.11:g.91934555A>G	(Likely) benign	1 lab	fa95f7e5e9
3:193361804 OPA1 GGTCA>G	3	193361804	193361812	GGTCA	G	OPA1	c.1523_1526del	NM_130837.3	NP_570850.2:p.(Ser508LysfsTer13)	NC_000003.11:g.193361809_193361812del	(Likely) pathogenic	1 lab	fa96a68f08
2:44100907 ABCG8 C>G	2	44100907	44100907	C	G	ABCG8	c.1212-19C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100907C>G	(Likely) benign	1 lab	fa97b0d5aa
7:73469100 ELN G>A	7	73469100	73469100	G	A	ELN	c.1150+1G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73469100G>A	VUS	1 lab	fa9800f675
1:244218560 ZBTB18 G>C	1	244218560	244218560	G	C	ZBTB18	c.1457G>C	NM_006352.4	NP_006343.2:p.(Arg486Pro)	NC_000001.10:g.244218560G>C	(Likely) pathogenic	1 lab	fa9baa473e
11:47355674 MYBPC3 G>T	11	47355674	47355674	G	T	MYBPC3	c.2906-113C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355674G>T	(Likely) benign	1 lab	fab0c46a99
12:69204935 MDM2 Ref too long to show for this DEL>G	12	69204935	69228878	Ref too long to show for this DEL	G	MDM2	c.99+1864_685-731del	NM_002392.6	NP_002383.2:p.?	NC_000012.11:g.69204936_69228878del	VUS	1 lab	faa232e43e
12:122261248 SETD1B C>G	12	122261248	122261248	C	G	SETD1B	c.4763C>G	NM_001353345.2	NP_001340274.1:p.(Pro1588Arg)	NC_000012.11:g.122261248C>G	(Likely) benign	1 lab	faa2b259fd
20:49508976 ADNP GA>G	20	49508976	49508977	GA	G	ADNP	c.2274del	NM_001282531.3	NP_001269460.1:p.(His759MetfsTer13)	NC_000020.10:g.49508977del	(Likely) pathogenic	1 lab	faa3bc0c10
12:21327579 SLCO1B1 A>G	12	21327579	21327579	A	G	SLCO1B1	c.295A>G	NM_006446.5	NP_006437.3:p.(Ile99Val)	NC_000012.11:g.21327579A>G	(Likely) benign	1 lab	faa5790ed8
2:179636092 TTN C>T	2	179636092	179636092	C	T	TTN	c.7962G>A	NM_001267550.2	NP_001254479.2:p.(Arg2654=)	NC_000002.11:g.179636092C>T	(Likely) benign	1 lab	faa664b4c8
2:44101649 ABCG8 G>GCCC	2	44101649	44101655	G	GCCC	ABCG8	c.1488+31_1488+33dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101653_44101655dup	(Likely) benign	1 lab	faa7380db1
1:13718543 PRAMEF17 A>C	1	13718543	13718543	A	C	PRAMEF17	c.1006A>C	NM_001099851.3	NP_001093321.1:p.(Asn336His)	NC_000001.10:g.13718543A>C	(Likely) benign	1 lab	faab280a78
18:29172840 TTR G>A	18	29172840	29172840	G	A	TTR	c.70-19G>A	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29172840G>A	(Likely) benign	1 lab	fab06a6d96
19:11215997 LDLR G>C	19	11215997	11215997	G	C	LDLR	c.415G>C	NM_000527.5	NP_000518.1:p.(Asp139His)	NC_000019.9:g.11215997G>C	(Likely) pathogenic	1 lab	fab0dbcab0
7:128614990 TNPO3 G>A	7	128614990	128614990	G	A	TNPO3	c.2205C>T	NM_012470.4	NP_036602.1:p.(Leu735=)	NC_000007.13:g.128614990G>A	(Likely) benign	1 lab	fab0f78c59
2:179588822 TTN C>A	2	179588822	179588822	C	A	TTN	c.21164G>T	NM_001267550.2	NP_001254479.2:p.(Gly7055Val)	NC_000002.11:g.179588822C>A	VUS	1 lab	fab1d7e0f2
17:45229261 CDC27 A>G	17	45229261	45229261	A	G	CDC27	c.999T>C	NM_001114091.4	NP_001107563.1:p.(Thr333=)	NC_000017.10:g.45229261A>G	(Likely) benign	1 lab	fab32d2175
1:161275471 MPZ C>A	1	161275471	161275471	C	A	MPZ	c.*195G>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275471C>A	(Likely) benign	1 lab	fab3d5b123
12:111356986 MYL2 TTTCTTAG>T	12	111356986	111356993	TTTCTTAG	T	MYL2	c.8_14del	NM_000432.4	NP_000423.2:p.(Pro3GlnfsTer45)	NC_000012.11:g.111356987_111356993del	(Likely) benign	1 lab	faba4689af
1:914937 PERM1 G>A	1	914937	914937	G	A	PERM1	c.1473C>T	NM_001291366.2	NP_001278295.1:p.(Pro491=)	NC_000001.10:g.914937G>A	(Likely) benign	1 lab	faba8548bd
5:33984564 SLC45A2 A>G	5	33984564	33984564	A	G	SLC45A2	c.125T>C	NM_001012509.4	NP_001012527.2:p.(Met42Thr)	NC_000005.9:g.33984564A>G	(Likely) pathogenic	1 lab	fabadf568d
7:92123676 PEX1 G>A	7	92123676	92123676	G	A	PEX1	c.2337C>T	NM_001282678.2	NP_001269607.1:p.(Asp779=)	NC_000007.13:g.92123676G>A	(Likely) benign	1 lab	fabff78176
20:14487207 MACROD2 Ref too long to show for this DEL>C	20	14487207	14603400	Ref too long to show for this DEL	C	MACROD2	c.301+13057_302-62089del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14487211_14603400del	VUS	1 lab	fac31891df
7:94047119 COL1A2 C>A	7	94047119	94047119	C	A	COL1A2	c.1947C>A	NM_000089.4	NP_000080.2:p.(Gly649=)	NC_000007.13:g.94047119C>A	(Likely) benign	1 lab	fac5d00d21
1:214811205 CENPF T>C	1	214811205	214811205	T	C	CENPF	c.1447-4T>C	NM_016343.4	NP_057427.3:p.?	NC_000001.10:g.214811205T>C	(Likely) benign	1 lab	fac6ad5160
19:8161450 FBN3 C>T	19	8161450	8161450	C	T	FBN3	c.5417G>A	NM_032447.5	NP_115823.3:p.(Arg1806Gln)	NC_000019.9:g.8161450C>T	(Likely) benign	1 lab	fac6b50da2
3:38626804 SCN5A G>A	3	38626804	38626804	G	A	SCN5A	c.2787+378C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38626804G>A	(Likely) benign	1 lab	fac7fa49af
2:21230565 APOB G>A	2	21230565	21230565	G	A	APOB	c.9175C>T	NM_000384.3	NP_000375.3:p.(Arg3059Cys)	NC_000002.11:g.21230565G>A	VUS	1 lab	facad2858a
X:70443980 GJB1 C>G	X	70443980	70443980	C	G	GJB1	c.423C>G	NM_000166.6	NP_000157.1:p.(Phe141Leu)	NC_000023.10:g.70443980C>G	(Likely) pathogenic	1 lab	facafe82dc
19:11216262 LDLR A>C	19	11216262	11216262	A	C	LDLR	c.680A>C	NM_000527.5	NP_000518.1:p.(Asp227Ala)	NC_000019.9:g.11216262A>C	(Likely) pathogenic	1 lab	facbb3db3a
22:29876996 NEFH G>A	22	29876996	29876996	G	A	NEFH	c.745G>A	NM_021076.4	NP_066554.2:p.(Gly249Ser)	NC_000022.10:g.29876996G>A	(Likely) benign	1 lab	facc8ad44e
2:179605651 TTN C>A	2	179605651	179605651	C	A	TTN	c.12309G>T	NM_001267550.2	NP_001254479.2:p.(Leu4103Phe)	NC_000002.11:g.179605651C>A	VUS	1 lab	facf435fc4
11:48002570 PTPRJ G>A	11	48002570	48002570	G	A	PTPRJ	c.96+10G>A	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48002570G>A	(Likely) benign	1 lab	facf889e11
19:50789795 MYH14 C>A	19	50789795	50789795	C	A	MYH14	c.4596C>A	NM_001145809.2	NP_001139281.1:p.(Ala1532=)	NC_000019.9:g.50789795C>A	(Likely) benign	1 lab	fad18d5b21
2:208994280 CRYGC T>C	2	208994280	208994280	T	C	CRYGC	c.137A>G	NM_020989.4	NP_066269.1:p.(Tyr46Cys)	NC_000002.11:g.208994280T>C	VUS	1 lab	fad27b5844
14:64496763 SYNE2 T>C	14	64496763	64496763	T	C	SYNE2	c.6865T>C	NM_182914.3	NP_878918.2:p.(Leu2289=)	NC_000014.8:g.64496763T>C	(Likely) benign	1 lab	fad2a5ce19
4:106307727 PPA2 T>C	4	106307727	106307727	T	C	PPA2	c.936A>G	NM_176869.3	NP_789845.1:p.(Glu312=)	NC_000004.11:g.106307727T>C	(Likely) benign	1 lab	fad4e6122a
5:13829619 DNAH5 C>T	5	13829619	13829619	C	T	DNAH5	c.6444G>A	NM_001369.3	NP_001360.1:p.(Gln2148=)	NC_000005.9:g.13829619C>T	(Likely) pathogenic	1 lab	fad5e5a9ec
1:236911067 ACTN2 G>T	1	236911067	236911067	G	T	ACTN2	c.1507G>T	NM_001103.4	NP_001094.1:p.(Ala503Ser)	NC_000001.10:g.236911067G>T	VUS	1 lab	fad66f45ef
8:101934051 YWHAZ Ref too long to show for this DEL>A	8	101934051	101961783	Ref too long to show for this DEL	A	YWHAZ	c.-11-655_679-1072del	NM_145690.3	NP_663723.1:p.?	NC_000008.10:g.101934052_101961783del	VUS	1 lab	fadc71c5b8
12:6952812 GNB3 C>T	12	6952812	6952812	C	T	GNB3	c.447C>T	NM_002075.4	NP_002066.1:p.(Cys149=)	NC_000012.11:g.6952812C>T	(Likely) benign	1 lab	faddeec40f
8:62489334 ASPH C>T	8	62489334	62489334	C	T	ASPH	c.1146G>A	NM_004318.4	NP_004309.2:p.(Ala382=)	NC_000008.10:g.62489334C>T	(Likely) benign	1 lab	fae1c8fa16
9:137701090 COL5A1 C>T	9	137701090	137701090	C	T	COL5A1	c.3428C>T	NM_000093.5	NP_000084.3:p.(Pro1143Leu)	NC_000009.11:g.137701090C>T	VUS	1 lab	fae32e2d41
5:127873111 FBN2 C>T	5	127873111	127873111	C	T	FBN2	c.186G>A	NM_001999.4	NP_001990.2:p.(Glu62=)	NC_000005.9:g.127873111C>T	(Likely) benign	1 lab	fae459abc1
3:193332567 OPA1 C>T	3	193332567	193332567	C	T	OPA1	c.88C>T	NM_130837.3	NP_570850.2:p.(Leu30=)	NC_000003.11:g.193332567C>T	(Likely) benign	1 lab	fae600958f
15:23890898 MAGEL2 G>A	15	23890898	23890898	G	A	MAGEL2	c.1992C>T	NM_019066.5	NP_061939.3:p.(Pro664=)	NC_000015.9:g.23890898G>A	(Likely) benign	1 lab	fae7c343d6
19:11240053 LDLR G>A	19	11240053	11240053	G	A	LDLR	c.2390-136G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240053G>A	(Likely) benign	1 lab	fae7c423dd
12:114836437 TBX5 G>A	12	114836437	114836437	G	A	TBX5	c.451C>T	NM_000192.3	NP_000183.2:p.(Gln151Ter)	NC_000012.11:g.114836437G>A	(Likely) pathogenic	1 lab	faf1bc1ff5
8:19811715 LPL T>G	8	19811715	19811715	T	G	LPL	c.626T>G	NM_000237.3	NP_000228.1:p.(Leu209Ter)	NC_000008.10:g.19811715T>G	(Likely) pathogenic	1 lab	faf3af923e
11:116662352 APOA5 G>T	11	116662352	116662352	G	T	APOA5	c.111C>A	NM_052968.5	NP_443200.2:p.(Asp37Glu)	NC_000011.9:g.116662352G>T	(Likely) benign	1 lab	faf727f4ec
16:1020478 LMF1 C>A	16	1020478	1020478	C	A	LMF1	c.-362+10667G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020478C>A	(Likely) benign	1 lab	faf7336beb
11:126074295 MISSING T>Alt too long to show for this DUP	11	126074295	126104917	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.126074297_126104917dup	VUS	1 lab	faf765ee58
8:77896104 PEX2 A>AT	8	77896104	77896110	A	AT	PEX2	c.310dup	NM_001172086.2	NP_001165557.2:p.(Ile104AsnfsTer19)	NC_000008.10:g.77896110dup	(Likely) pathogenic	1 lab	faf9dbd439
15:58834106 LIPC C>T	15	58834106	58834106	C	T	LIPC	c.396C>T	NM_000236.3	NP_000227.2:p.(Ile132=)	NC_000015.9:g.58834106C>T	(Likely) benign	1 lab	fafa7422d4
1:10318736 KIF1B A>C	1	10318736	10318736	A	C	KIF1B	c.363+6A>C	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10318736A>C	(Likely) benign	1 lab	faffa478b8
9:107556682 ABCA1 G>A	9	107556682	107556682	G	A	ABCA1	c.5492C>T	NM_005502.4	NP_005493.2:p.(Ala1831Val)	NC_000009.11:g.107556682G>A	VUS	1 lab	faffdc1389
2:44059097 ABCG5 A>G	2	44059097	44059097	A	G	ABCG5	c.391T>C	NM_022436.3	NP_071881.1:p.(Tyr131His)	NC_000002.11:g.44059097A>G	(Likely) pathogenic	1 lab	fb01c26e01
17:19458724 MISSING C>Alt too long to show for this DUP	17	19458724	19624227	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19458725_19624227dup	VUS	1 lab	fb02b5f052
X:128695228 OCRL G>A	X	128695228	128695228	G	A	OCRL	c.897G>A	NM_000276.4	NP_000267.2:p.(Met299Ile)	NC_000023.10:g.128695228G>A	(Likely) benign	1 lab	fb042d7ec3
7:128041129 IMPDH1 C>A	7	128041129	128041129	C	A	IMPDH1	c.444G>T	NM_000883.4	NP_000874.2:p.(Thr148=)	NC_000007.13:g.128041129C>A	(Likely) benign	1 lab	fb059004a8
21:46912440 COL18A1 C>T	21	46912440	46912440	C	T	COL18A1	c.3403-9C>T	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46912440C>T	(Likely) benign	1 lab	fb0bfab566
7:94058751 COL1A2 T>C	7	94058751	94058751	T	C	COL1A2	c.3954+9T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94058751T>C	(Likely) benign	1 lab	fb0ed90183
15:30012910 TJP1 C>T	15	30012910	30012910	C	T	TJP1	c.2415G>A	NM_003257.5	NP_003248.3:p.(Ala805=)	NC_000015.9:g.30012910C>T	(Likely) benign	1 lab	fb10cf1238
2:179592067 TTN G>T	2	179592067	179592067	G	T	TTN	c.20025C>A	NM_001267550.2	NP_001254479.2:p.(Ala6675=)	NC_000002.11:g.179592067G>T	(Likely) benign	1 lab	fb11d88dff
1:236920825 ACTN2 G>T	1	236920825	236920825	G	T	ACTN2	c.1570G>T	NM_001278344.2	NP_001265273.1:p.(Ala524Ser)	NC_000001.10:g.236920825G>T	VUS	1 lab	fb1390ef71
18:47101901 LIPG G>A	18	47101901	47101901	G	A	LIPG	c.734G>A	NM_006033.4	NP_006024.1:p.(Gly245Glu)	NC_000018.9:g.47101901G>A	(Likely) pathogenic	1 lab	fb13cabb8f
2:72727075 EXOC6B C>T	2	72727075	72727075	C	T	EXOC6B	c.1194G>A	NM_015189.3	NP_056004.1:p.(Val398=)	NC_000002.11:g.72727075C>T	(Likely) benign	1 lab	fb14c264fa
14:67759390 PALS1 G>A	14	67759390	67759390	G	A	PALS1	c.530G>A	NM_022474.4	NP_071919.2:p.(Ser177Asn)	NC_000014.8:g.67759390G>A	(Likely) benign	1 lab	fb15ab03b6
9:133543700 PRDM12 GGT>G	9	133543700	133543717	GGT	G	PRDM12	c.570+16_570+17del	NM_021619.3	NP_067632.2:p.?	NC_000009.11:g.133543716_133543717del	(Likely) benign	1 lab	fb16e50ea8
1:6528439 PLEKHG5 G>A	1	6528439	6528439	G	A	PLEKHG5	c.2457C>T	NM_198681.4	NP_941374.3:p.(Tyr819=)	NC_000001.10:g.6528439G>A	(Likely) benign	1 lab	fb17d0f19a
17:71197676 COG1 G>A	17	71197676	71197676	G	A	COG1	c.1710G>A	NM_018714.3	NP_061184.1:p.(Leu570=)	NC_000017.10:g.71197676G>A	(Likely) benign	1 lab	fb1f5cc4b5
3:46902251 MYL3 C>T	3	46902251	46902251	C	T	MYL3	c.222G>A	NM_000258.3	NP_000249.1:p.(Gly74=)	NC_000003.11:g.46902251C>T	(Likely) benign	1 lab	fb1fbd4cad
5:127702329 FBN2 T>A	5	127702329	127702329	T	A	FBN2	c.2249-206A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127702329T>A	(Likely) benign	1 lab	fb20355c4a
4:100516022 MTTP C>G	4	100516022	100516022	C	G	MTTP	c.891C>G	NM_000253.4	NP_000244.2:p.(His297Gln)	NC_000004.11:g.100516022C>G	(Likely) benign	1 lab	fb20b7c941
16:71674789 MISSING Ref too long to show for this DEL>T	16	71674789	72170223	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.71674791_72170223del	(Likely) pathogenic	1 lab	fb20fc1e7d
1:248059045 OR2W3 C>A	1	248059045	248059045	C	A	OR2W3	c.157C>A	NM_001001957.2	NP_001001957.2:p.(Pro53Thr)	NC_000001.10:g.248059045C>A	(Likely) benign	1 lab	fb222fd5fb
2:21241429 APOB C>T	2	21241429	21241429	C	T	APOB	c.3121+435G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21241429C>T	(Likely) benign	1 lab	fb22770ff9
16:46764534 MYLK3 G>A	16	46764534	46764534	G	A	MYLK3	c.1539C>T	NM_182493.3	NP_872299.2:p.(Tyr513=)	NC_000016.9:g.46764534G>A	(Likely) benign	1 lab	fb241ba6aa
3:75714895 FRG2C G>A	3	75714895	75714895	G	A	FRG2C	c.552G>A	NM_001124759.4	NP_001118231.1:p.(Ser184=)	NC_000003.11:g.75714895G>A	(Likely) benign	1 lab	fb2436bea7
15:73617645 HCN4 C>T	15	73617645	73617645	C	T	HCN4	c.1731G>A	NM_005477.3	NP_005468.1:p.(Leu577=)	NC_000015.9:g.73617645C>T	(Likely) benign	1 lab	fb259c7b63
12:977963 WNK1 A>T	12	977963	977963	A	T	WNK1	c.3071A>T	NM_001184985.2	NP_001171914.1:p.(Asn1024Ile)	NC_000012.11:g.977963A>T	VUS	1 lab	fb2602b525
18:28654857 DSC2 C>T	18	28654857	28654857	C	T	DSC2	c.1680G>A	NM_004949.5	NP_004940.1:p.(Thr560=)	NC_000018.9:g.28654857C>T	(Likely) benign	1 lab	fb2797e424
6:112457414 LAMA4 C>T	6	112457414	112457414	C	T	LAMA4	c.3325G>A	NM_001105206.3	NP_001098676.2:p.(Val1109Met)	NC_000006.11:g.112457414C>T	VUS	1 lab	fb2840a4a9
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	fb2850b966
2:179554116 TTN T>A	2	179554116	179554116	T	A	TTN	c.31928-16A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554116T>A	(Likely) benign	1 lab	fb2d7fae9e
6:116747564 DSE T>C	6	116747564	116747564	T	C	DSE	c.417-173T>C	NM_013352.4	NP_037484.1:p.?	NC_000006.11:g.116747564T>C	(Likely) benign	1 lab	fb334038f0
9:139094773 LHX3 A>G	9	139094773	139094773	A	G	LHX3	c.94+19T>C	NM_014564.5	NP_055379.1:p.?	NC_000009.11:g.139094773A>G	(Likely) benign	1 lab	fb349013ff
5:133948363 SAR1B AAAAAAAAAG>A	5	133948363	133948374	AAAAAAAAAG	A	SAR1B	c.244+9_244+17del	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948366_133948374del	(Likely) benign	1 lab	fb3939bf26
10:126683092 CTBP2 G>A	10	126683092	126683092	G	A	CTBP2	c.2346C>T	NM_022802.3	NP_073713.2:p.(His782=)	NC_000010.10:g.126683092G>A	(Likely) benign	1 lab	fb39671576
10:61819505 ANK3 C>T	10	61819505	61819505	C	T	ANK3	c.2418G>A	NM_001149.4	NP_001140.2:p.(Met806Ile)	NC_000010.10:g.61819505C>T	VUS	1 lab	fb3bc37043
6:10756728 TMEM14B C>T	6	10756728	10756728	C	T	TMEM14B	c.322C>T	NM_030969.5	NP_112231.3:p.(Arg108Cys)	NC_000006.11:g.10756728C>T	(Likely) benign	1 lab	fb3bdda169
1:210857483 KCNH1 GGAGA>G	1	210857483	210857501	GGAGA	G	KCNH1	c.2113-7_2113-4del	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210857498_210857501del	(Likely) benign	1 lab	fb3eaae318
22:29092075 CHEK2 C>T	22	29092075	29092075	C	T	CHEK2	c.1096-214G>A	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29092075C>T	(Likely) benign	1 lab	fb3ed13bf6
16:3647840 SLX4 T>G	16	3647840	3647840	T	G	SLX4	c.1324A>C	NM_032444.4	NP_115820.2:p.(Arg442=)	NC_000016.9:g.3647840T>G	(Likely) benign	1 lab	fb402a90b6
17:48262886 COL1A1 C>T	17	48262886	48262886	C	T	COL1A1	c.4372G>A	NM_000088.4	NP_000079.2:p.(Val1458Ile)	NC_000017.10:g.48262886C>T	(Likely) benign	1 lab	fb408416e9
11:116701953 APOC3 CTTTCTTT>C	11	116701953	116701960	CTTTCTTT	C	APOC3	c.179+342_179+348del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701954_116701960del	(Likely) benign	1 lab	fb40d15d53
12:79426248 SYT1 Ref too long to show for this DEL>C	12	79426248	79455921	Ref too long to show for this DEL	C	SYT1	c.-83-14825_-18+14779del	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79426252_79455921del	VUS	1 lab	fb43b00045
2:179478998 TTN G>A	2	179478998	179478998	G	A	TTN	c.49126C>T	NM_001267550.2	NP_001254479.2:p.(Arg16376Cys)	NC_000002.11:g.179478998G>A	VUS	1 lab	fb44683002
2:179515997 TTN T>C	2	179515997	179515997	T	C	TTN	c.39598A>G	NM_001267550.2	NP_001254479.2:p.(Lys13200Glu)	NC_000002.11:g.179515997T>C	VUS	1 lab	fb46170127
16:57014875 CETP A>G	16	57014875	57014875	A	G	CETP	c.1147-195A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57014875A>G	(Likely) benign	1 lab	fb8d7e6435
2:241712558 KIF1A C>T	2	241712558	241712558	C	T	KIF1A	c.1153G>A	NM_001244008.2	NP_001230937.1:p.(Ala385Thr)	NC_000002.11:g.241712558C>T	VUS	1 lab	fb4acc9d86
2:179498608 TTN A>G	2	179498608	179498608	A	G	TTN	c.42618T>C	NM_001267550.2	NP_001254479.2:p.(Asp14206=)	NC_000002.11:g.179498608A>G	(Likely) benign	1 lab	fb4bfc9eea
22:21465661 MISSING Ref too long to show for this DEL>A	22	21465661	23653980	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.21465662_23653980del	(Likely) pathogenic	1 lab	fb4fe3ff2b
18:29126003 DSG2 G>A	18	29126003	29126003	G	A	DSG2	c.2654G>A	NM_001943.5	NP_001934.2:p.(Gly885Asp)	NC_000018.9:g.29126003G>A	VUS	1 lab	fb5330289d
1:156843392 NTRK1 T>A	1	156843392	156843392	T	A	NTRK1	c.851-33T>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156843392T>A	(Likely) pathogenic	1 lab	fb558b82f7
X:8504773 ANOS1 G>T	X	8504773	8504773	G	T	ANOS1	c.1621+39C>A	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8504773G>T	(Likely) benign	1 lab	fb5768862d
4:3519762 LRPAP1 A>G	4	3519762	3519762	A	G	LRPAP1				NC_000004.11:g.3519762A>G	(Likely) benign	1 lab	ef57cd0680
9:107546274 ABCA1 C>CA	9	107546274	107546290	C	CA	ABCA1	c.*321dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546290dup	(Likely) benign	1 lab	fb59b4c725
2:125333126 MISSING Ref too long to show for this DEL>T	2	125333126	126590381	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.125333129_126590381del	VUS	1 lab	fb5a22d2b3
18:58039551 MC4R G>A	18	58039551	58039551	G	A	MC4R	c.32C>T	NM_005912.3	NP_005903.2:p.(Thr11Ile)	NC_000018.9:g.58039551G>A	VUS	1 lab	fb8ca4649b
2:182543399 NEUROD1 A>G	2	182543399	182543399	A	G	NEUROD1	c.189T>C	NM_002500.5	NP_002491.3:p.(Asp63=)	NC_000002.11:g.182543399A>G	(Likely) benign	1 lab	fb5f4819d3
10:91005531 LIPA C>A	10	91005531	91005531	C	A	LIPA	c.131G>T	NM_000235.4	NP_000226.2:p.(Trp44Leu)	NC_000010.10:g.91005531C>A	VUS	1 lab	fb630a0936
20:56227637 PMEPA1 C>A	20	56227637	56227637	C	A	PMEPA1	c.336G>T	NM_020182.5	NP_064567.2:p.(Pro112=)	NC_000020.10:g.56227637C>A	(Likely) benign	1 lab	fb69f5bdce
19:11224350 LDLR G>A	19	11224350	11224350	G	A	LDLR	c.1498G>A	NM_000527.5	NP_000518.1:p.(Val500Ile)	NC_000019.9:g.11224350G>A	VUS	1 lab	fb6cc6dacb
2:179428618 TTN C>T	2	179428618	179428618	C	T	TTN	c.82241G>A	NM_001267550.2	NP_001254479.2:p.(Arg27414Gln)	NC_000002.11:g.179428618C>T	VUS	1 lab	fb6d3029a7
4:95255685 MISSING Ref too long to show for this DEL>G	4	95255685	95297525	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.95255687_95297525del	VUS	1 lab	fb6d5e5ac7
X:8667735 ANOS1 G>A	X	8667735	8667735	G	A	ANOS1	c.255+4C>T	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8667735G>A	(Likely) benign	1 lab	fb6ebd9ece
17:63223378 RGS9 C>T	17	63223378	63223378	C	T	RGS9	c.1893-15C>T	NM_003835.4	NP_003826.2:p.?	NC_000017.10:g.63223378C>T	(Likely) benign	1 lab	fb70586c31
6:65612039 EYS T>C	6	65612039	65612039	T	C	EYS	c.2813A>G	NM_001292009.2	NP_001278938.1:p.(Lys938Arg)	NC_000006.11:g.65612039T>C	(Likely) benign	1 lab	fb70cce12a
12:125348178 SCARB1 A>C	12	125348178	125348178	A	C	SCARB1	c.89T>G	NM_005505.5	NP_005496.4:p.(Val30Gly)	NC_000012.11:g.125348178A>C	(Likely) benign	1 lab	fb710807d1
20:62680627 SOX18 G>A	20	62680627	62680627	G	A	SOX18	c.243C>T	NM_018419.3	NP_060889.1:p.(Asp81=)	NC_000020.10:g.62680627G>A	(Likely) benign	1 lab	fb711898aa
2:179485522 TTN TC>T	2	179485522	179485523	TC	T	TTN	c.38110del	NM_133378.4	NP_596869.4:p.(Asp12704MetfsTer10)	NC_000002.11:g.179485523del	(Likely) pathogenic	1 lab	fb717109f8
17:19614991 MISSING A>Alt too long to show for this DUP	17	19614991	19760197	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.19614992_19760197dup	VUS	1 lab	fb73023909
4:114208878 ANK2 A>G	4	114208878	114208878	A	G	ANK2	c.2178+19A>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114208878A>G	(Likely) benign	1 lab	fb77dec091
16:81412168 GAN G>A	16	81412168	81412168	G	A	GAN	c.*967G>A	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81412168G>A	(Likely) benign	1 lab	fb79bddbc3
20:47990860 KCNB1 C>G	20	47990860	47990860	C	G	KCNB1	c.1237G>C	NM_004975.4	NP_004966.1:p.(Val413Leu)	NC_000020.10:g.47990860C>G	VUS	1 lab	fb7ac1ed1c
1:1371188 VWA1 C>T	1	1371188	1371188	C	T	VWA1	c.60C>T	NM_022834.5	NP_073745.2:p.(Ser20=)	NC_000001.10:g.1371188C>T	(Likely) benign	1 lab	fb8224cf8a
9:107588182 ABCA1 G>T	9	107588182	107588182	G	T	ABCA1	c.2338-14C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588182G>T	(Likely) benign	1 lab	fb8755e26a
16:56995982 CETP C>T	16	56995982	56995982	C	T	CETP	c.91C>T	NM_000078.3	NP_000069.2:p.(Arg31Cys)	NC_000016.9:g.56995982C>T	(Likely) benign	1 lab	fb88905722
10:112583189 RBM20 CTTT>C	10	112583189	112583216	CTTT	C	RBM20	c.3317-24_3317-22del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583214_112583216del	(Likely) benign	1 lab	fb88caf490
20:34089659 CEP250 C>CCT	20	34089659	34089663	C	CCT	CEP250	c.3899-10_3899-9dup	NM_007186.6	NP_009117.2:p.?	NC_000020.10:g.34089662_34089663dup	(Likely) benign	1 lab	fb8cd4b885
17:7910048 GUCY2D C>T	17	7910048	7910048	C	T	GUCY2D	c.1378+16C>T	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7910048C>T	(Likely) benign	1 lab	fb91d73356
6:7570552 DSP T>TTG	6	7570552	7570554	T	TTG	DSP	c.1575-117_1575-116insGT	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7570553_7570554insGT	(Likely) benign	1 lab	fb926806a8
7:150644698 KCNH2 CAG>C	7	150644698	150644700	CAG	C	KCNH2	c.2959_2960del	NM_000238.4	NP_000229.1:p.(Leu987ValfsTer131)	NC_000007.13:g.150644699_150644700del	(Likely) pathogenic	1 lab	fb93330bb5
11:118526655 PHLDB1 C>T	11	118526655	118526655	C	T	PHLDB1	c.3993+53C>T	NM_015157.4	NP_055972.1:p.?	NC_000011.9:g.118526655C>T	(Likely) benign	1 lab	fb9349e6ec
6:13283663 PHACTR1 A>G	6	13283663	13283663	A	G	PHACTR1	c.1519A>G	NM_030948.6	NP_112210.1:p.(Arg507Gly)	NC_000006.11:g.13283663A>G	(Likely) pathogenic	1 lab	fb9546997e
2:179659146 TTN T>A	2	179659146	179659146	T	A	TTN	c.1378A>T	NM_001267550.2	NP_001254479.2:p.(Ile460Phe)	NC_000002.11:g.179659146T>A	VUS	1 lab	fb95fed5c4
7:100679214 MUC17 T>C	7	100679214	100679214	T	C	MUC17	c.4517T>C	NM_001040105.2	NP_001035194.1:p.(Ile1506Thr)	NC_000007.13:g.100679214T>C	(Likely) benign	1 lab	fb9655bf95
5:178413349 GRM6 C>T	5	178413349	178413349	C	T	GRM6	c.1906G>A	NM_000843.4	NP_000834.2:p.(Ala636Thr)	NC_000005.9:g.178413349C>T	(Likely) benign	1 lab	fba13fadd6
20:57599303 TUBB1 C>T	20	57599303	57599303	C	T	TUBB1	c.821C>T	NM_030773.4	NP_110400.1:p.(Thr274Met)	NC_000020.10:g.57599303C>T	(Likely) benign	1 lab	fba23d589e
5:178580474 ADAMTS2 G>A	5	178580474	178580474	G	A	ADAMTS2	c.1515+18C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178580474G>A	(Likely) benign	1 lab	fba4e0c745
1:58720537 MISSING Ref too long to show for this DEL>C	1	58720537	66462068	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.58720538_66462068del	(Likely) pathogenic	1 lab	fba773b4b9
18:12771088 MISSING G>Alt too long to show for this DUP	18	12771088	12817392	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.12771089_12817392dup	VUS	1 lab	fba9184b78
11:33041169 MISSING A>Alt too long to show for this DUP	11	33041169	33565886	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.33041171_33565886dup	VUS	1 lab	fbaf726e39
12:88505085 CEP290 T>A	12	88505085	88505085	T	A	CEP290	c.2261A>T	NM_025114.4	NP_079390.3:p.(Glu754Val)	NC_000012.11:g.88505085T>A	VUS	1 lab	fbb14c76b8
11:47372945 MYBPC3 C>T	11	47372945	47372945	C	T	MYBPC3	c.137G>A	NM_000256.3	NP_000247.2:p.(Gly46Asp)	NC_000011.9:g.47372945C>T	VUS	1 lab	fbb1c5b085
16:15812195 MYH11 G>A	16	15812195	15812195	G	A	MYH11	c.5293C>T	NM_001040113.2	NP_001035202.1:p.(Arg1765Trp)	NC_000016.9:g.15812195G>A	(Likely) pathogenic	1 lab	fbb3ef0475
11:116706766 APOA1 C>T	11	116706766	116706766	C	T	APOA1	c.235G>A	NM_001318021.1	NP_001304950.1:p.(Ala79Thr)	NC_000011.9:g.116706766C>T	VUS	1 lab	fbb500a52a
15:85360546 ALPK3 C>T	15	85360546	85360546	C	T	ALPK3				NC_000015.9:g.85360546C>T	VUS	1 lab	fbb6d15f1c
16:11647532 LITAF C>T	16	11647532	11647532	C	T	LITAF	c.234G>A	NM_004862.4	NP_004853.2:p.(Thr78=)	NC_000016.9:g.11647532C>T	(Likely) benign	1 lab	fbb8a55115
11:116661080 APOA5 G>A	11	116661080	116661080	G	A	APOA5	c.865C>T	NM_052968.5	NP_443200.2:p.(Arg289Cys)	NC_000011.9:g.116661080G>A	VUS	1 lab	fbcd17b0d3
20:57478633 GNAS C>T	20	57478633	57478633	C	T	GNAS	c.305C>T	NM_000516.7	NP_000507.1:p.(Ala102Val)	NC_000020.10:g.57478633C>T	(Likely) pathogenic	1 lab	fbced3c8f0
6:32552144 HLA-DRB1 AC>A	6	32552144	32552145	AC	A	HLA-DRB1	c.111del	NM_002124.4	NP_002115.2:p.(Trp38GlyfsTer42)	NC_000006.11:g.32552145del	(Likely) benign	1 lab	fbcf449163
17:46628560 HOXB3 G>C	17	46628560	46628560	G	C	HOXB3	c.449-17C>G	NM_002146.4	NP_002137.4:p.?	NC_000017.10:g.46628560G>C	(Likely) benign	1 lab	fbd6f253f3
6:169633033 THBS2 G>A	6	169633033	169633033	G	A	THBS2	c.1731C>T	NM_003247.5	NP_003238.2:p.(Cys577=)	NC_000006.11:g.169633033G>A	(Likely) benign	1 lab	fbd746ad17
11:116661637 APOA5 ACCT>A	11	116661637	116661645	ACCT	A	APOA5	c.305_307del	NM_052968.5	NP_443200.2:p.(Glu102del)	NC_000011.9:g.116661643_116661645del	(Likely) pathogenic	1 lab	fbd97b37b6
1:235659621 B3GALNT2 G>GAA	1	235659621	235659635	G	GAA	B3GALNT2	c.113-1485_113-1484dup	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235659634_235659635dup	(Likely) benign	1 lab	fbda2d2f7d
16:29421693 MISSING Ref too long to show for this DEL>A	16	29421693	30334133	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29421695_30334133del	(Likely) pathogenic	1 lab	fbdab552c5
X:49072019 CACNA1F G>A	X	49072019	49072019	G	A	CACNA1F	c.3270-16C>T	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49072019G>A	(Likely) benign	1 lab	fbdae1ad33
20:42744733 JPH2 C>T	20	42744733	42744733	C	T	JPH2	c.1582G>A	NM_020433.5	NP_065166.2:p.(Glu528Lys)	NC_000020.10:g.42744733C>T	VUS	1 lab	fbdc4b8add
12:64853987 TBK1 G>C	12	64853987	64853987	G	C	TBK1	c.106G>C	NM_013254.4	NP_037386.1:p.(Ala36Pro)	NC_000012.11:g.64853987G>C	VUS	1 lab	fbdeddcece
16:46781840 MYLK3 C>A	16	46781840	46781840	C	A	MYLK3	c.266G>T	NM_182493.3	NP_872299.2:p.(Gly89Val)	NC_000016.9:g.46781840C>A	VUS	1 lab	fbe057030c
15:48788376 FBN1 T>C	15	48788376	48788376	T	C	FBN1	c.2340A>G	NM_000138.5	NP_000129.3:p.(Gln780=)	NC_000015.9:g.48788376T>C	(Likely) benign	1 lab	fbe41632a6
16:67976499 LCAT G>T	16	67976499	67976499	G	T	LCAT	c.524-9C>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976499G>T	VUS	1 lab	fbe42cec68
16:84067047 SLC38A8 G>A	16	84067047	84067047	G	A	SLC38A8	c.416C>T	NM_001080442.3	NP_001073911.1:p.(Pro139Leu)	NC_000016.9:g.84067047G>A	(Likely) benign	1 lab	fbe7dac9b7
2:179419704 TTN G>A	2	179419704	179419704	G	A	TTN	c.88482C>T	NM_001267550.2	NP_001254479.2:p.(Asp29494=)	NC_000002.11:g.179419704G>A	(Likely) benign	1 lab	fbe7ff377d
11:121477611 SORL1 T>C	11	121477611	121477611	T	C	SORL1	c.5006T>C	NM_003105.6	NP_003096.2:p.(Ile1669Thr)	NC_000011.9:g.121477611T>C	(Likely) benign	1 lab	fbec2273b6
15:45409373 DUOXA2 C>A	15	45409373	45409373	C	A	DUOXA2	c.639C>A	NM_207581.4	NP_997464.2:p.(Thr213=)	NC_000015.9:g.45409373C>A	(Likely) benign	1 lab	fbef360683
19:11227645 LDLR G>T	19	11227645	11227645	G	T	LDLR	c.1816G>T	NM_000527.5	NP_000518.1:p.(Ala606Ser)	NC_000019.9:g.11227645G>T	VUS	1 lab	fbf3e4d80e
6:126073244 HEY2 A>T	6	126073244	126073244	A	T	HEY2	c.246+8A>T	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126073244A>T	(Likely) benign	1 lab	fbf49ca68f
18:28667613 DSC2 T>C	18	28667613	28667613	T	C	DSC2	c.775+19A>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28667613T>C	(Likely) benign	1 lab	fbf9e78372
19:36395516 TYROBP C>T	19	36395516	36395516	C	T	TYROBP	c.297G>A	NM_003332.4	NP_003323.1:p.(Ser99=)	NC_000019.9:g.36395516C>T	(Likely) benign	1 lab	fbfdda2bb4
1:94528245 ABCA4 C>T	1	94528245	94528245	C	T	ABCA4	c.1825G>A	NM_000350.3	NP_000341.2:p.(Ala609Thr)	NC_000001.10:g.94528245C>T	VUS	1 lab	fc0201bf90
3:47155439 SETD2 GT>G	3	47155439	47155443	GT	G	SETD2	c.4509del	NM_001349370.3	NP_001336299.1:p.(Lys1503AsnfsTer18)	NC_000003.11:g.47155443del	(Likely) pathogenic	1 lab	fc04c4077d
9:137653801 COL5A1 C>T	9	137653801	137653801	C	T	COL5A1	c.1966C>T	NM_000093.5	NP_000084.3:p.(Pro656Ser)	NC_000009.11:g.137653801C>T	VUS	1 lab	fc071996a7
19:17986763 SLC5A5 C>T	19	17986763	17986763	C	T	SLC5A5	c.546C>T	NM_000453.3	NP_000444.1:p.(Gly182=)	NC_000019.9:g.17986763C>T	(Likely) benign	1 lab	fc08512e8c
21:33074557 SCAF4 CTTCA>C	21	33074557	33074563	CTTCA	C	SCAF4	c.453_456del	NM_020706.2	NP_065757.1:p.(Asn151LysfsTer8)	NC_000021.8:g.33074560_33074563del	VUS	1 lab	fc09e23e4f
2:179582655 TTN AAAC>A	2	179582655	179582662	AAAC	A	TTN	c.25063+12_25063+14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179582660_179582662del	(Likely) benign	1 lab	fc0adc116d
16:88493940 ZNF469 G>A	16	88493940	88493940	G	A	ZNF469	c.62G>A	NM_001367624.2	NP_001354553.1:p.(Arg21His)	NC_000016.9:g.88493940G>A	(Likely) benign	1 lab	fc0c6f7403
1:2237552 SKI G>A	1	2237552	2237552	G	A	SKI	c.1861G>A	NM_003036.4	NP_003027.1:p.(Ala621Thr)	NC_000001.10:g.2237552G>A	VUS	1 lab	fc0de38ea2
2:219513608 ZNF142 G>A	2	219513608	219513608	G	A	ZNF142	c.1023C>T	NM_001105537.4	NP_001099007.1:p.(Tyr341=)	NC_000002.11:g.219513608G>A	(Likely) benign	1 lab	fc0f7a2633
22:46763757 CELSR1 G>A	22	46763757	46763757	G	A	CELSR1	c.7953-5C>T	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46763757G>A	(Likely) benign	1 lab	fc0fb41e08
2:179435418 TTN-AS1 T>C	2	179435418	179435418	T	C	TTN-AS1	n.2044-11881T>C	NR_038272.1		NC_000002.11:g.179435418T>C	(Likely) benign	1 lab	fc104c203d
8:41366806 MISSING Ref too long to show for this DEL>G	8	41366806	41388477	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.41366809_41388477del	VUS	1 lab	fc11526622
11:40162405 LRRC4C TA>T	11	40162405	40162421	TA	T	LRRC4C	c.-95-3del	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40162421del	(Likely) benign	1 lab	fc1273ad85
9:93640021 SYK G>A	9	93640021	93640021	G	A	SYK	c.1281G>A	NM_001174168.3	NP_001167639.1:p.(Met427Ile)	NC_000009.11:g.93640021G>A	(Likely) pathogenic	1 lab	fc16a1eb6e
X:77528362 CYSLTR1 T>C	X	77528362	77528362	T	C	CYSLTR1	c.882A>G	NM_001282187.2	NP_001269116.1:p.(Leu294=)	NC_000023.10:g.77528362T>C	(Likely) benign	1 lab	fc17a3f4eb
19:11215925 LDLR C>T	19	11215925	11215925	C	T	LDLR	c.343C>T	NM_000527.5	NP_000518.1:p.(Arg115Cys)	NC_000019.9:g.11215925C>T	(Likely) pathogenic	1 lab	fc1c84fc0c
17:46024036 PNPO G>A	17	46024036	46024036	G	A	PNPO	c.674G>A	NM_018129.4	NP_060599.1:p.(Arg225His)	NC_000017.10:g.46024036G>A	(Likely) pathogenic	1 lab	fc1e8875fb
18:77474711 CTDP1 A>G	18	77474711	77474711	A	G	CTDP1	c.1251A>G	NM_048368.4	NP_430255.2:p.(Gln417=)	NC_000018.9:g.77474711A>G	(Likely) benign	1 lab	fc1ec88383
10:81067240 ZMIZ1 AC>A	10	81067240	81067241	AC	A	ZMIZ1	c.2748del	NM_020338.4	NP_065071.1:p.(His916GlnfsTer91)	NC_000010.10:g.81067241del	(Likely) pathogenic	1 lab	fc2050e1dd
5:90119304 ADGRV1 A>T	5	90119304	90119304	A	T	ADGRV1	c.16259A>T	NM_032119.4	NP_115495.3:p.(Gln5420Leu)	NC_000005.9:g.90119304A>T	(Likely) benign	1 lab	fc205a00a6
6:146720837 GRM1 T>G	6	146720837	146720837	T	G	GRM1	c.2660+2T>G	NM_001278065.2	NP_001264994.1:p.?	NC_000006.11:g.146720837T>G	VUS	1 lab	fc2153ab23
16:46766227 MYLK3 C>T	16	46766227	46766227	C	T	MYLK3	c.1355G>A	NM_182493.3	NP_872299.2:p.(Gly452Glu)	NC_000016.9:g.46766227C>T	VUS	1 lab	fc23e23f07
1:12052663 MFN2 T>C	1	12052663	12052663	T	C	MFN2	c.227T>C	NM_014874.4	NP_055689.1:p.(Leu76Pro)	NC_000001.10:g.12052663T>C	(Likely) pathogenic	1 lab	fc2752b2c6
2:44072237 ABCG8 GTA>G	2	44072237	44072259	GTA	G	ABCG8	c.165+511_165+512del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072258_44072259del	(Likely) benign	1 lab	fc2e5f4468
16:67913785 EDC4 TAGC>T	16	67913785	67913805	TAGC	T	EDC4	c.1872_1874del	NM_014329.5	NP_055144.3:p.(Ser629del)	NC_000016.9:g.67913803_67913805del	(Likely) benign	1 lab	fc2f2e897f
12:122248296 SETD1B C>T	12	122248296	122248296	C	T	SETD1B	c.1445C>T	NM_001353345.2	NP_001340274.1:p.(Thr482Met)	NC_000012.11:g.122248296C>T	(Likely) benign	1 lab	fc2fb9aad6
17:72919052 USH1G A>C	17	72919052	72919052	A	C	USH1G	c.117T>G	NM_173477.5	NP_775748.2:p.(Ala39=)	NC_000017.10:g.72919052A>C	(Likely) benign	1 lab	fc333596a6
9:131782125 MISSING Ref too long to show for this DEL>A	9	131782125	131847597	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.131782126_131847597del	VUS	1 lab	fc354ba188
2:159196771 CCDC148 T>A	2	159196771	159196771	T	A	CCDC148	c.469A>T	NM_138803.4	NP_620158.3:p.(Met157Leu)	NC_000002.11:g.159196771T>A	(Likely) benign	1 lab	fc35beb75a
10:104855741 NT5C2 GA>G	10	104855741	104855750	GA	G	NT5C2	c.772-5del	NM_012229.5	NP_036361.1:p.?	NC_000010.10:g.104855750del	(Likely) benign	1 lab	fc37720bc3
11:1017497 MUC6 G>T	11	1017497	1017497	G	T	MUC6	c.5304C>A	NM_005961.3	NP_005952.2:p.(Ser1768Arg)	NC_000011.9:g.1017497G>T	(Likely) benign	1 lab	fc395cef14
15:58830528 LIPC G>A	15	58830528	58830528	G	A	LIPC	c.89-4G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58830528G>A	(Likely) benign	1 lab	fc3bc669cd
18:34205669 FHOD3 G>C	18	34205669	34205669	G	C	FHOD3	c.1153G>C	NM_001281740.3	NP_001268669.1:p.(Ala385Pro)	NC_000018.9:g.34205669G>C	VUS	1 lab	fc3be66dc5
19:17988794 SLC5A5 C>T	19	17988794	17988794	C	T	SLC5A5	c.861C>T	NM_000453.3	NP_000444.1:p.(Val287=)	NC_000019.9:g.17988794C>T	(Likely) benign	1 lab	fc3dcf73ab
6:169621542 THBS2 G>C	6	169621542	169621542	G	C	THBS2	c.3354C>G	NM_003247.5	NP_003238.2:p.(Pro1118=)	NC_000006.11:g.169621542G>C	(Likely) benign	1 lab	fc3e114714
11:116707698 APOA1 C>T	11	116707698	116707698	C	T	APOA1	c.200+19G>A	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116707698C>T	(Likely) benign	1 lab	fc41114029
1:94463534 ABCA4 G>A	1	94463534	94463534	G	A	ABCA4	c.6612C>T	NM_000350.3	NP_000341.2:p.(Asn2204=)	NC_000001.10:g.94463534G>A	(Likely) benign	1 lab	fc493b9ae4
17:74536311 PRCD C>T	17	74536311	74536311	C	T	PRCD	c.74+14C>T	NM_001077620.3	NP_001071088.1:p.?	NC_000017.10:g.74536311C>T	(Likely) benign	1 lab	fc4cf8764b
2:179460395 TTN C>T	2	179460395	179460395	C	T	TTN	c.49982G>A	NM_133378.4	NP_596869.4:p.(Arg16661Lys)	NC_000002.11:g.179460395C>T	VUS	1 lab	fc5239086f
1:55518476 PCSK9 C>A	1	55518476	55518476	C	A	PCSK9	c.799+12C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518476C>A	(Likely) benign	1 lab	fc52ebd913
2:21235374 APOB C>T	2	21235374	21235374	C	T	APOB	c.4366G>A	NM_000384.3	NP_000375.3:p.(Asp1456Asn)	NC_000002.11:g.21235374C>T	VUS	1 lab	fc532aa0b2
2:179443553 TTN A>T	2	179443553	179443553	A	T	TTN	c.68204T>A	NM_001267550.2	NP_001254479.2:p.(Ile22735Asn)	NC_000002.11:g.179443553A>T	VUS	1 lab	fc5448fc9f
4:16034947 PROM1 C>T	4	16034947	16034947	C	T	PROM1	c.462G>A	NM_001145847.2	NP_001139319.1:p.(Leu154=)	NC_000004.11:g.16034947C>T	(Likely) benign	1 lab	fc557c6be2
12:40902855 MUC19 T>A	12	40902855	40902855	T	A	MUC19	c.19998T>A	NM_173600.2	NP_775871.2:p.(Pro6666=)	NC_000012.11:g.40902855T>A	(Likely) benign	1 lab	fc5a38bb27
18:25756932 CDH2 G>A	18	25756932	25756932	G	A	CDH2	c.55C>T	NM_001792.5	NP_001783.2:p.(Leu19Phe)	NC_000018.9:g.25756932G>A	VUS	1 lab	fc5cf15134
5:127644923 FBN2 C>T	5	127644923	127644923	C	T	FBN2	c.5353+16G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644923C>T	(Likely) benign	1 lab	fea6362abb
20:57429714 GNAS C>CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	20	57429714	57429715	C	CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	GNAS	c.1207_1208insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	NM_001077490.3	NP_001070958.1:p.(Gln403delinsLeuThrProGlnProIleProThrProGlyArgProGlu)	NC_000020.10:g.57429714_57429715insTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	(Likely) benign	1 lab	fc5e03a3b4
14:21793467 RPGRIP1 G>A	14	21793467	21793467	G	A	RPGRIP1	c.2292G>A	NM_020366.4	NP_065099.3:p.(Ala764=)	NC_000014.8:g.21793467G>A	(Likely) benign	1 lab	fc5f3fb031
12:21325653 SLCO1B1 A>T	12	21325653	21325653	A	T	SLCO1B1	c.154A>T	NM_006446.5	NP_006437.3:p.(Ile52Phe)	NC_000012.11:g.21325653A>T	(Likely) benign	1 lab	fc60f63c40
2:44101430 ABCG8 T>G	2	44101430	44101430	T	G	ABCG8	c.1412-116T>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101430T>G	(Likely) benign	1 lab	fc61814d85
1:1696693 NADK G>A	1	1696693	1696693	G	A	NADK	c.153C>T	NM_001198994.2	NP_001185923.1:p.(Pro51=)	NC_000001.10:g.1696693G>A	(Likely) benign	1 lab	fc624423a4
6:32021362 TNXB A>G	6	32021362	32021362	A	G	TNXB	c.8588T>C	NM_019105.8	NP_061978.6:p.(Met2863Thr)	NC_000006.11:g.32021362A>G	(Likely) benign	1 lab	fc63e0b5b7
2:238249549 COL6A3 C>T	2	238249549	238249549	C	T	COL6A3	c.8010G>A	NM_004369.4	NP_004360.2:p.(Ala2670=)	NC_000002.11:g.238249549C>T	(Likely) benign	1 lab	fc6422afd8
11:9878049 SBF2 C>T	11	9878049	9878049	C	T	SBF2	c.2319G>A	NM_030962.4	NP_112224.1:p.(Ala773=)	NC_000011.9:g.9878049C>T	(Likely) benign	1 lab	fc6430bf7e
11:121454173 SORL1 A>G	11	121454173	121454173	A	G	SORL1	c.3587A>G	NM_003105.6	NP_003096.2:p.(Tyr1196Cys)	NC_000011.9:g.121454173A>G	(Likely) benign	1 lab	fc6812c172
10:64573864 EGR2 T>C	10	64573864	64573864	T	C	EGR2	c.534A>G	NM_000399.5	NP_000390.2:p.(Ala178=)	NC_000010.10:g.64573864T>C	(Likely) benign	1 lab	fc69cbf1da
7:55259450 EGFR C>T	7	55259450	55259450	C	T	EGFR	c.2508C>T	NM_005228.5	NP_005219.2:p.(Arg836=)	NC_000007.13:g.55259450C>T	(Likely) benign	1 lab	fc6a9c48d3
15:48714278 FBN1 G>A	15	48714278	48714278	G	A	FBN1	c.7454-13C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48714278G>A	(Likely) benign	1 lab	fc6d054916
X:153216828 HCFC1 C>T	X	153216828	153216828	C	T	HCFC1	c.5490G>A	NM_005334.3	NP_005325.2:p.(Leu1830=)	NC_000023.10:g.153216828C>T	(Likely) benign	1 lab	fc70e67126
17:59763301 BRIP1 A>G	17	59763301	59763301	A	G	BRIP1	c.2801T>C	NM_032043.3	NP_114432.2:p.(Phe934Ser)	NC_000017.10:g.59763301A>G	VUS	1 lab	fc724c10b5
4:82378718 RASGEF1B G>C	4	82378718	82378718	G	C	RASGEF1B	c.235C>G	NM_152545.3	NP_689758.1:p.(Leu79Val)	NC_000004.11:g.82378718G>C	VUS	1 lab	fc72e0b39d
13:33332238 PDS5B G>T	13	33332238	33332238	G	T	PDS5B	c.3070G>T	NM_015032.4	NP_055847.1:p.(Val1024Phe)	NC_000013.10:g.33332238G>T	(Likely) benign	1 lab	fc739d7bea
22:50875929 PPP6R2 T>C	22	50875929	50875929	T	C	PPP6R2	c.1684-6T>C	NM_001242898.2	NP_001229827.1:p.?	NC_000022.10:g.50875929T>C	(Likely) benign	1 lab	fc73d15033
6:42146178 GUCA1ANB-GUCA1A C>T	6	42146178	42146178	C	T	GUCA1ANB-GUCA1A	c.351+11C>T	NM_001319061.2	NP_001305990.1:p.?	NC_000006.11:g.42146178C>T	(Likely) benign	1 lab	fc77128eb4
10:18439809 CACNB2 T>TTG	10	18439809	18439810	T	TTG	CACNB2	c.37-3_37-2insTG	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTG	(Likely) benign	1 lab	fc78689d41
1:223994554 TP53BP2 T>C	1	223994554	223994554	T	C	TP53BP2	c.81A>G	NM_005426.3	NP_005417.1:p.(Ala27=)	NC_000001.10:g.223994554T>C	(Likely) benign	1 lab	fc79db6abf
12:88465242 CEP290 T>A	12	88465242	88465242	T	A	CEP290	c.5856-16A>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88465242T>A	(Likely) benign	1 lab	fed8f174ce
3:38593137 SCN5A G>GGGT	3	38593137	38593139	G	GGGT	SCN5A	c.4814-89_4814-88insACC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593138_38593139insGTG	(Likely) benign	1 lab	fc7b305096
3:121202433 POLQ TA>T	3	121202433	121202450	TA	T	POLQ	c.5774-5del	NM_199420.4	NP_955452.3:p.?	NC_000003.11:g.121202450del	(Likely) benign	1 lab	fc7b414d04
3:126224851 UROC1 G>A	3	126224851	126224851	G	A	UROC1	c.606C>T	NM_001165974.2	NP_001159446.1:p.(Tyr202=)	NC_000003.11:g.126224851G>A	(Likely) benign	1 lab	fc7c3fc0ff
9:27567095 C9orf72 T>C	9	27567095	27567095	T	C	C9orf72	c.24A>G	NM_001256054.3	NP_001242983.1:p.(Pro8=)	NC_000009.11:g.27567095T>C	(Likely) benign	1 lab	fc80d7a850
1:55523854 PCSK9 C>T	1	55523854	55523854	C	T	PCSK9	c.1326C>T	NM_174936.4	NP_777596.2:p.(Ala442=)	NC_000001.10:g.55523854C>T	(Likely) benign	1 lab	fc8272f43d
16:88500266 ZNF469 C>G	16	88500266	88500266	C	G	ZNF469	c.6388C>G	NM_001367624.2	NP_001354553.1:p.(Leu2130Val)	NC_000016.9:g.88500266C>G	(Likely) benign	1 lab	fc88956fae
2:179393921 TTN T>C	2	179393921	179393921	T	C	TTN	c.106557A>G	NM_001267550.2	NP_001254479.2:p.(Lys35519=)	NC_000002.11:g.179393921T>C	(Likely) benign	1 lab	fc8a2da695
2:44101577 ABCG8 AC>A	2	44101577	44101578	AC	A	ABCG8	c.1444del	NM_022437.3	NP_071882.1:p.(Leu482TrpfsTer40)	NC_000002.11:g.44101578del	(Likely) pathogenic	1 lab	fc8c06e7eb
2:157161282 MISSING Ref too long to show for this DEL>G	2	157161282	157459741	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.157161284_157459741del	(Likely) pathogenic	1 lab	fc9180cb28
18:4081561 MISSING C>Alt too long to show for this DUP	18	4081561	4618244	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.4081562_4618244dup	VUS	1 lab	fc92f0ec1a
11:76959175 GDPD4 Ref too long to show for this DEL>A	11	76959175	76976999	Ref too long to show for this DEL	A	GDPD4	c.707+2504_865-2629del	NM_182833.3	NP_878253.1:p.?	NC_000011.9:g.76959177_76976999del	VUS	1 lab	fc935e8a19
X:70443732 GJB1 G>C	X	70443732	70443732	G	C	GJB1	c.175G>C	NM_000166.6	NP_000157.1:p.(Gly59Arg)	NC_000023.10:g.70443732G>C	(Likely) pathogenic	1 lab	fc98c36803
14:77984440 SPTLC2 T>A	14	77984440	77984440	T	A	SPTLC2	c.1510A>T	NM_004863.4	NP_004854.1:p.(Ile504Phe)	NC_000014.8:g.77984440T>A	(Likely) pathogenic	1 lab	fc98c92be5
8:59410951 CYP7A1 A>G	8	59410951	59410951	A	G	CYP7A1	c.158T>C	NM_000780.4	NP_000771.2:p.(Leu53Pro)	NC_000008.10:g.59410951A>G	VUS	1 lab	fc98e002ee
14:23900620 MYH7 C>T	14	23900620	23900620	C	T	MYH7	c.796+7G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900620C>T	(Likely) benign	1 lab	fc9cfdcd13
8:41509222 ANK1 C>Alt too long to show for this DUP	8	41509222	41709011	C	Alt too long to show for this DUP	ANK1				NC_000008.10:g.41509224_41709011dup	VUS	1 lab	fca0ac640d
16:943087 LMF1 G>A	16	943087	943087	G	A	LMF1	c.265-15C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943087G>A	(Likely) benign	1 lab	fca0b62d09
18:19359657 MIB1 T>G	18	19359657	19359657	T	G	MIB1	c.908+11T>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19359657T>G	(Likely) benign	1 lab	fca2ae8222
15:43868591 MISSING Ref too long to show for this DEL>A	15	43868591	43989967	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.43868594_43989967del	VUS	1 lab	fca31ebe37
10:12148364 DHTKD1 C>T	10	12148364	12148364	C	T	DHTKD1	c.2016C>T	NM_018706.7	NP_061176.4:p.(Ala672=)	NC_000010.10:g.12148364C>T	(Likely) benign	1 lab	fca422aef4
16:11517779 MISSING A>G	16	11517779	11517779	A	G	MISSING				NC_000016.9:g.11517779A>G	VUS	1 lab	43886c63be
1:89523674 GBP1 C>T	1	89523674	89523674	C	T	GBP1	c.874+1G>A	NM_002053.3	NP_002044.2:p.?	NC_000001.10:g.89523674C>T	(Likely) benign	1 lab	fcad62b57f
8:82357119 PMP2 T>G	8	82357119	82357119	T	G	PMP2	c.179A>C	NM_002677.5	NP_002668.1:p.(Asn60Thr)	NC_000008.10:g.82357119T>G	(Likely) benign	1 lab	fcadc7967c
11:116662514 APOA5 G>A	11	116662514	116662514	G	A	APOA5	c.49+14C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662514G>A	(Likely) benign	1 lab	fcb33f9da5
9:107574930 ABCA1 T>C	9	107574930	107574930	T	C	ABCA1	c.3975A>G	NM_005502.4	NP_005493.2:p.(Thr1325=)	NC_000009.11:g.107574930T>C	(Likely) benign	1 lab	fcb36ecc1a
10:88441279 LDB3 G>T	10	88441279	88441279	G	T	LDB3	c.408G>T	NM_001171610.2	NP_001165081.1:p.(Pro136=)	NC_000010.10:g.88441279G>T	(Likely) benign	1 lab	fcb3f7e877
1:202517633 MISSING Ref too long to show for this DEL>T	1	202517633	202622815	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.202517636_202622815del	VUS	1 lab	fcb408b21b
2:179544969 TTN G>T	2	179544969	179544969	G	T	TTN	c.33418+12C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544969G>T	(Likely) benign	1 lab	fcb40f0ee4
15:73660218 HCN4 T>G	15	73660218	73660218	T	G	HCN4	c.394A>C	NM_005477.3	NP_005468.1:p.(Ile132Leu)	NC_000015.9:g.73660218T>G	VUS	1 lab	fcb6f8453b
1:55518416 PCSK9 C>T	1	55518416	55518416	C	T	PCSK9	c.751C>T	NM_174936.4	NP_777596.2:p.(Arg251Cys)	NC_000001.10:g.55518416C>T	VUS	1 lab	fcb8ed8d1e
16:46771918 MYLK3 A>T	16	46771918	46771918	A	T	MYLK3	c.706T>A	NM_182493.3	NP_872299.2:p.(Phe236Ile)	NC_000016.9:g.46771918A>T	VUS	1 lab	fcb91da621
Y:14968772 USP9Y TAA>T	Y	14968772	14968784	TAA	T	USP9Y	c.7434+13_7434+14del	NM_004654.4	NP_004645.2:p.?	NC_000024.9:g.14968783_14968784del	(Likely) benign	1 lab	fcb92d6d32
5:98131010 MISSING A>Alt too long to show for this DUP	5	98131010	98159160	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.98131013_98159160dup	VUS	1 lab	fcba0cb9be
8:24813498 NEFL A>T	8	24813498	24813498	A	T	NEFL	c.532T>A	NM_006158.5	NP_006149.2:p.(Tyr178Asn)	NC_000008.10:g.24813498A>T	VUS	1 lab	fcbb9322df
6:16140631 MYLIP T>G	6	16140631	16140631	T	G	MYLIP	c.279-1225T>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16140631T>G	(Likely) benign	1 lab	fcbefb137f
9:133755563 ABL1 GGT>G	9	133755563	133755565	GGT	G	ABL1	c.1513+20_1513+21del	NM_005157.6	NP_005148.2:p.?	NC_000009.11:g.133755564_133755565del	(Likely) benign	1 lab	fcc2611417
3:9543998 LHFPL4 AAG>A	3	9543998	9544019	AAG	A	LHFPL4	c.644-5_644-4del	NM_198560.3	NP_940962.1:p.?	NC_000003.11:g.9544018_9544019del	(Likely) benign	1 lab	fcc6225f64
16:77353973 ADAMTS18 G>T	16	77353973	77353973	G	T	ADAMTS18	c.2305C>A	NM_199355.4	NP_955387.1:p.(Leu769Ile)	NC_000016.9:g.77353973G>T	(Likely) benign	1 lab	fcca0d6908
22:33673217 LARGE1 G>A	22	33673217	33673217	G	A	LARGE1	c.1902C>T	NM_133642.5	NP_598397.1:p.(His634=)	NC_000022.10:g.33673217G>A	(Likely) benign	1 lab	fcca5911bc
19:11216113 LDLR G>A	19	11216113	11216113	G	A	LDLR	c.531G>A	NM_000527.5	NP_000518.1:p.(Ser177=)	NC_000019.9:g.11216113G>A	(Likely) benign	1 lab	fccbb133f7
6:56485462 DST G>A	6	56485462	56485462	G	A	DST	c.3370C>T	NM_001723.7	NP_001714.1:p.(Gln1124Ter)	NC_000006.11:g.56485462G>A	(Likely) pathogenic	1 lab	fccd333867
6:72892404 RIMS1 C>G	6	72892404	72892404	C	G	RIMS1	c.1230C>G	NM_014989.6	NP_055804.2:p.(Gly410=)	NC_000006.11:g.72892404C>G	(Likely) benign	1 lab	fcd3c03a0f
19:45412532 APOE C>T	19	45412532	45412532	C	T	APOE	c.*25C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45412532C>T	(Likely) benign	1 lab	fcd3e6df23
6:56482994 DST G>A	6	56482994	56482994	G	A	DST	c.5838C>T	NM_001723.7	NP_001714.1:p.(Leu1946=)	NC_000006.11:g.56482994G>A	(Likely) benign	1 lab	fcdb794742
8:22066941 BMP1 C>A	8	22066941	22066941	C	A	BMP1	c.2576-17C>A	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22066941C>A	(Likely) benign	1 lab	fcdbe18616
14:76165590 TTLL5 C>T	14	76165590	76165590	C	T	TTLL5	c.562C>T	NM_015072.5	NP_055887.3:p.(Arg188Trp)	NC_000014.8:g.76165590C>T	VUS	1 lab	fcdffd863c
X:124363410 MISSING Ref too long to show for this DEL>A	X	124363410	133329776	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.124363411_133329776del	(Likely) pathogenic	1 lab	fce35548a1
6:33411263 SYNGAP1 AT>A	6	33411263	33411265	AT	A	SYNGAP1	c.2936del	NM_006772.3	NP_006763.2:p.(Phe979SerfsTer98)	NC_000006.11:g.33411265del	(Likely) pathogenic	1 lab	fce7dac30f
2:29456440 ALK G>A	2	29456440	29456440	G	A	ALK	c.2478C>T	NM_004304.5	NP_004295.2:p.(Tyr826=)	NC_000002.11:g.29456440G>A	(Likely) benign	1 lab	fcea5d26a4
1:63064348 ANGPTL3 A>G	1	63064348	63064348	A	G	ANGPTL3	c.496-19A>G	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63064348A>G	VUS	1 lab	fceb438f86
2:177131284 MISSING A>Alt too long to show for this DUP	2	177131284	177259646	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.177131285_177259646dup	VUS	1 lab	fceb5f78e2
10:75874166 VCL CGTGTGTGTGT>C	10	75874166	75874195	CGTGTGTGTGT	C	VCL	c.3153+41_3153+50del	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75874186_75874195del	(Likely) benign	1 lab	fcf5e32585
7:98466478 MISSING G>Alt too long to show for this DUP	7	98466478	98590681	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.98466480_98590681dup	VUS	1 lab	fcf605f5e4
1:215901725 USH2A G>A	1	215901725	215901725	G	A	USH2A	c.11713C>T	NM_206933.4	NP_996816.3:p.(Arg3905Cys)	NC_000001.10:g.215901725G>A	(Likely) pathogenic	1 lab	fcf8c1ab12
16:2105506 TSC2 C>T	16	2105506	2105506	C	T	TSC2	c.585C>T	NM_000548.5	NP_000539.2:p.(Ile195=)	NC_000016.9:g.2105506C>T	(Likely) benign	1 lab	fcfa46ca42
10:68979554 CTNNA3 C>T	10	68979554	68979554	C	T	CTNNA3	c.654G>A	NM_013266.4	NP_037398.2:p.(Leu218=)	NC_000010.10:g.68979554C>T	(Likely) benign	1 lab	fcfb776b17
3:12046131 SYN2 ACGC>A	3	12046131	12046141	ACGC	A	SYN2	c.114_116del	NM_003178.6	NP_003169.2:p.(Pro40del)	NC_000003.11:g.12046139_12046141del	(Likely) benign	1 lab	fcfd8e8fb3
10:27703001 PTCHD3 A>G	10	27703001	27703001	A	G	PTCHD3	c.179T>C	NM_001034842.4	NP_001030014.2:p.(Leu60Pro)	NC_000010.10:g.27703001A>G	(Likely) benign	1 lab	fcfd9cf66a
8:144297231 GPIHBP1 C>T	8	144297231	144297231	C	T	GPIHBP1	c.393C>T	NM_178172.6	NP_835466.2:p.(Cys131=)	NC_000008.10:g.144297231C>T	(Likely) benign	1 lab	fcff5c20cc
5:95746628 PCSK1 A>G	5	95746628	95746628	A	G	PCSK1	c.945T>C	NM_000439.5	NP_000430.3:p.(Asp315=)	NC_000005.9:g.95746628A>G	(Likely) benign	1 lab	fd02e3ad91
2:21235077 APOB T>C	2	21235077	21235077	T	C	APOB	c.4663A>G	NM_000384.3	NP_000375.3:p.(Ile1555Val)	NC_000002.11:g.21235077T>C	(Likely) benign	1 lab	fd031cff7b
1:155630543 YY1AP1 C>T	1	155630543	155630543	C	T	YY1AP1	c.1572G>A	NM_001198903.1	NP_001185832.1:p.(Lys524=)	NC_000001.10:g.155630543C>T	(Likely) benign	1 lab	fd0588d925
17:75484804 SEPTIN9 C>T	17	75484804	75484804	C	T	SEPTIN9	c.1071-5C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484804C>T	(Likely) benign	1 lab	fd0bb7b2f7
10:68940177 CTNNA3 C>T	10	68940177	68940177	C	T	CTNNA3	c.945G>A	NM_013266.4	NP_037398.2:p.(Ala315=)	NC_000010.10:g.68940177C>T	(Likely) benign	1 lab	fd0ce15921
9:107579613 ABCA1 C>T	9	107579613	107579613	C	T	ABCA1	c.3535G>A	NM_005502.4	NP_005493.2:p.(Asp1179Asn)	NC_000009.11:g.107579613C>T	VUS	1 lab	fd0e3eb069
2:179428680 TTN T>C	2	179428680	179428680	T	C	TTN	c.82179A>G	NM_001267550.2	NP_001254479.2:p.(Pro27393=)	NC_000002.11:g.179428680T>C	(Likely) benign	1 lab	fd0f705355
3:1143707 CNTN6 Ref too long to show for this DEL>T	3	1143707	1243861	Ref too long to show for this DEL	T	CNTN6	c.-83+8904_56-18510del	NM_001289080.2	NP_001276009.1:p.?	NC_000003.11:g.1143708_1243861del	VUS	1 lab	fd0ffe1986
9:133553952 PRDM12 G>A	9	133553952	133553952	G	A	PRDM12	c.607G>A	NM_021619.3	NP_067632.2:p.(Gly203Arg)	NC_000009.11:g.133553952G>A	VUS	1 lab	fd11aaaf43
17:39925880 JUP C>T	17	39925880	39925880	C	T	JUP	c.258G>A	NM_002230.4	NP_002221.1:p.(Arg86=)	NC_000017.10:g.39925880C>T	(Likely) benign	1 lab	fd13a210f4
10:48388801 RBP3 C>T	10	48388801	48388801	C	T	RBP3	c.2077G>A	NM_002900.3	NP_002891.1:p.(Val693Met)	NC_000010.10:g.48388801C>T	(Likely) benign	1 lab	fd14d0b0c9
2:179518381 TTN G>A	2	179518381	179518381	G	A	TTN	c.38593C>T	NM_001267550.2	NP_001254479.2:p.(Pro12865Ser)	NC_000002.11:g.179518381G>A	VUS	1 lab	fd16876b9e
6:16141950 MYLIP C>A	6	16141950	16141950	C	A	MYLIP	c.373C>A	NM_013262.4	NP_037394.2:p.(Gln125Lys)	NC_000006.11:g.16141950C>A	(Likely) benign	1 lab	fd1cadbdc1
9:130423419 STXBP1 C>CG	9	130423419	130423420	C	CG	STXBP1	c.365dup	NM_003165.6	NP_003156.1:p.(Ala123SerfsTer19)	NC_000009.11:g.130423420dup	(Likely) pathogenic	1 lab	fd2063a833
10:94396944 KIF11 G>T	10	94396944	94396944	G	T	KIF11	c.1879G>T	NM_004523.4	NP_004514.2:p.(Val627Leu)	NC_000010.10:g.94396944G>T	(Likely) benign	1 lab	fd20bc706d
9:127287158 NR6A1 G>GA	9	127287158	127287170	G	GA	NR6A1	c.1202-7dup	NM_033334.4	NP_201591.2:p.?	NC_000009.11:g.127287170dup	(Likely) benign	1 lab	fd241a9fbb
6:7580039 DSP T>G	6	7580039	7580039	T	G	DSP	c.3616T>G	NM_004415.4	NP_004406.2:p.(Leu1206Val)	NC_000006.11:g.7580039T>G	VUS	1 lab	fd279c2e12
19:45412292 APOE C>G	19	45412292	45412292	C	G	APOE	c.817C>G	NM_001302688.2	NP_001289617.1:p.(Leu273Val)	NC_000019.9:g.45412292C>G	VUS	1 lab	fd28b2984f
19:464140 CIMAP1D C>G	19	464140	464140	C	G	CIMAP1D	c.574G>C	NM_182577.3	NP_872383.1:p.(Ala192Pro)	NC_000019.9:g.464140C>G	(Likely) benign	1 lab	fd29476a93
10:101474456 COX15 G>A	10	101474456	101474456	G	A	COX15	c.1121C>T	NM_078470.6	NP_510870.1:p.(Thr374Met)	NC_000010.10:g.101474456G>A	VUS	1 lab	fd2a454f41
15:98574532 MISSING G>Alt too long to show for this DUP	15	98574532	98704555	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.98574534_98704555dup	VUS	1 lab	fd2f02dd28
22:50886828 SBF1 G>A	22	50886828	50886828	G	A	SBF1	c.5197C>T	NM_002972.4	NP_002963.2:p.(Arg1733Cys)	NC_000022.10:g.50886828G>A	(Likely) benign	1 lab	fd2f428d3f
2:121742058 GLI2 CT>C	2	121742058	121742059	CT	C	GLI2	c.1696del	NM_001371271.1	NP_001358200.1:p.(Cys566AlafsTer20)	NC_000002.11:g.121742059del	VUS	1 lab	fd330518ed
4:47973119 CNGA1 TA>T	4	47973119	47973131	TA	T	CNGA1	c.-219-3del	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47973131del	(Likely) benign	1 lab	fd360c5315
12:122257431 SETD1B G>A	12	122257431	122257431	G	A	SETD1B	c.3540G>A	NM_001353345.2	NP_001340274.1:p.(Glu1180=)	NC_000012.11:g.122257431G>A	(Likely) benign	1 lab	fd36aefb6c
2:21229161 APOB G>A	2	21229161	21229161	G	A	APOB	c.10579C>T	NM_000384.3	NP_000375.3:p.(Arg3527Trp)	NC_000002.11:g.21229161G>A	(Likely) pathogenic	1 lab	fd3a1d3feb
11:125885283 CDON G>C	11	125885283	125885283	G	C	CDON	c.1051C>G	NM_001243597.2	NP_001230526.1:p.(Pro351Ala)	NC_000011.9:g.125885283G>C	(Likely) benign	1 lab	fd3b6253e0
18:77513804 CTDP1 G>T	18	77513804	77513804	G	T	CTDP1	c.*14G>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77513804G>T	(Likely) benign	1 lab	fd3bf3d93d
12:117977606 KSR2 G>C	12	117977606	117977606	G	C	KSR2	c.1605C>G	NM_173598.6	NP_775869.4:p.(Pro535=)	NC_000012.11:g.117977606G>C	(Likely) benign	1 lab	fd3cb04405
5:121409827 LOX G>A	5	121409827	121409827	G	A	LOX	c.916C>T	NM_002317.7	NP_002308.2:p.(Leu306=)	NC_000005.9:g.121409827G>A	(Likely) benign	1 lab	fd3d61594f
3:58156444 FLNB G>A	3	58156444	58156444	G	A	FLNB	c.7857G>A	NM_001164317.2	NP_001157789.1:p.(Gly2619=)	NC_000003.11:g.58156444G>A	(Likely) benign	1 lab	fd3f0cba94
3:4810443 ITPR1 C>T	3	4810443	4810443	C	T	ITPR1	c.5929C>T	NM_001168272.2	NP_001161744.1:p.(Leu1977=)	NC_000003.11:g.4810443C>T	(Likely) benign	1 lab	fd420e7d1a
20:33584949 MYH7B G>A	20	33584949	33584949	G	A	MYH7B	c.3456G>A	NM_020884.5	NP_065935.3:p.(Gln1152=)	NC_000020.10:g.33584949G>A	(Likely) benign	1 lab	fd42935396
X:70443657 GJB1 A>G	X	70443657	70443657	A	G	GJB1	c.100A>G	NM_000166.6	NP_000157.1:p.(Met34Val)	NC_000023.10:g.70443657A>G	(Likely) pathogenic	1 lab	fd4768a49a
8:146015783 MISSING G>Alt too long to show for this DUP	8	146015783	146113113	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.146015784_146113113dup	VUS	1 lab	fd4867be04
9:32543852 TOPORS T>C	9	32543852	32543852	T	C	TOPORS	c.671A>G	NM_005802.5	NP_005793.2:p.(Asp224Gly)	NC_000009.11:g.32543852T>C	VUS	1 lab	fd4bfd35cb
2:44079831 ABCG8 G>A	2	44079831	44079831	G	A	ABCG8	c.788G>A	NM_022437.3	NP_071882.1:p.(Arg263Gln)	NC_000002.11:g.44079831G>A	(Likely) pathogenic	1 lab	fd4c46e2e2
17:41276135 BRCA1 T>C	17	41276135	41276135	T	C	BRCA1	c.-19-3A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276135T>C	(Likely) benign	1 lab	fd4e1d241e
X:12725038 FRMPD4 A>AT	X	12725038	12725041	A	AT	FRMPD4	c.1287+7dup	NM_014728.3	NP_055543.2:p.?	NC_000023.10:g.12725041dup	(Likely) benign	1 lab	fd4f7c4ef2
5:94803697 SKIC3 G>GA	5	94803697	94803707	G	GA	SKIC3	c.4497-5dup	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94803707dup	(Likely) benign	1 lab	fd5106a843
14:105174056 INF2 T>C	14	105174056	105174056	T	C	INF2	c.1452T>C	NM_022489.4	NP_071934.3:p.(Cys484=)	NC_000014.8:g.105174056T>C	(Likely) benign	1 lab	fd5901935f
2:179645859 TTN A>C	2	179645859	179645859	A	C	TTN	c.3512T>G	NM_001267550.2	NP_001254479.2:p.(Leu1171Trp)	NC_000002.11:g.179645859A>C	VUS	1 lab	fd59dfc935
1:6531589 PLEKHG5 C>T	1	6531589	6531589	C	T	PLEKHG5	c.1240G>A	NM_198681.4	NP_941374.3:p.(Ala414Thr)	NC_000001.10:g.6531589C>T	(Likely) benign	1 lab	fd5d8ae280
2:44072260 ABCG8 A>AT	2	44072260	44072270	A	AT	ABCG8	c.165+523dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072270dup	(Likely) benign	1 lab	fd5ef9d251
7:150646134 KCNH2 TTCCC>T	7	150646134	150646139	TTCCC	T	KCNH2	c.2399-1_2401del	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150646136_150646139del	(Likely) pathogenic	1 lab	fd6169efa1
17:75494787 SEPTIN9 T>TC	17	75494787	75494795	T	TC	SEPTIN9	c.*55dup	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75494795dup	(Likely) benign	1 lab	fd6567ad4b
16:1630746 IFT140 G>C	16	1630746	1630746	G	C	IFT140	c.1524+14C>G	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1630746G>C	(Likely) benign	1 lab	fd65dbe4be
6:35423971 FANCE G>A	6	35423971	35423971	G	A	FANCE	c.696G>A	NM_021922.3	NP_068741.1:p.(Glu232=)	NC_000006.11:g.35423971G>A	(Likely) benign	1 lab	fd69e95164
2:202245944 TRAK2 T>TA	2	202245944	202245961	T	TA	TRAK2	c.2070-4dup	NM_015049.3	NP_055864.2:p.?	NC_000002.11:g.202245961dup	(Likely) benign	1 lab	fd6a1614ff
2:21235258 APOB C>T	2	21235258	21235258	C	T	APOB	c.4482G>A	NM_000384.3	NP_000375.3:p.(Ser1494=)	NC_000002.11:g.21235258C>T	(Likely) benign	1 lab	fd6a2ab71c
18:28651658 DSC2 G>A	18	28651658	28651658	G	A	DSC2	c.2038C>T	NM_004949.5	NP_004940.1:p.(Arg680Cys)	NC_000018.9:g.28651658G>A	VUS	1 lab	fd71fa969e
17:10479296 MISSING T>Alt too long to show for this DUP	17	10479296	10670074	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.10479297_10670074dup	VUS	1 lab	fd72be075c
X:119581875 LAMP2 G>A	X	119581875	119581875	G	A	LAMP2	c.562C>T	NM_002294.3	NP_002285.1:p.(Leu188=)	NC_000023.10:g.119581875G>A	(Likely) benign	1 lab	fd730bb506
8:110565706 MISSING A>Alt too long to show for this DUP	8	110565706	110638268	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.110565707_110638268dup	VUS	1 lab	fd74a92477
11:66334914 CTSF C>G	11	66334914	66334914	C	G	CTSF	c.531+1G>C	NM_003793.4	NP_003784.2:p.?	NC_000011.9:g.66334914C>G	VUS	1 lab	fd7716f3c7
1:161275707 MPZ T>C	1	161275707	161275707	T	C	MPZ	c.706A>G	NM_000530.8	NP_000521.2:p.(Lys236Glu)	NC_000001.10:g.161275707T>C	(Likely) pathogenic	1 lab	fd7880c36e
5:82837897 VCAN G>A	5	82837897	82837897	G	A	VCAN	c.9075G>A	NM_004385.5	NP_004376.2:p.(Thr3025=)	NC_000005.9:g.82837897G>A	(Likely) benign	1 lab	fd788a4c7f
12:32794921 FGD4 A>G	12	32794921	32794921	A	G	FGD4	c.*1454A>G	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32794921A>G	(Likely) benign	1 lab	fd78beea32
22:50903022 SBF1 C>A	22	50903022	50903022	C	A	SBF1	c.1577G>T	NM_002972.4	NP_002963.2:p.(Gly526Val)	NC_000022.10:g.50903022C>A	VUS	1 lab	fd7c43a404
X:122622933 GRIA3 T>TACACAC	X	122622933	122622968	T	TACACAC	GRIA3	c.*402_*407dup	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122622963_122622968dup	(Likely) benign	1 lab	fd7e8eb7d1
15:48749040 FBN1 CGT>C	15	48749040	48749069	CGT	C	FBN1	c.5297-83_5297-82del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48749068_48749069del	(Likely) benign	1 lab	fd809297b8
7:91730294 AKAP9 A>G	7	91730294	91730294	A	G	AKAP9	c.11021A>G	NM_005751.5	NP_005742.4:p.(Tyr3674Cys)	NC_000007.13:g.91730294A>G	VUS	1 lab	fd829ede4f
14:105258916 AKT1 C>T	14	105258916	105258916	C	T	AKT1	c.46+19G>A	NM_001382433.1	NP_001369362.1:p.?	NC_000014.8:g.105258916C>T	(Likely) benign	1 lab	fd82f8e43e
10:54042144 PRKG1 T>C	10	54042144	54042144	T	C	PRKG1	c.1664+68T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54042144T>C	(Likely) benign	1 lab	fd83823459
16:88500822 ZNF469 C>G	16	88500822	88500822	C	G	ZNF469	c.6944C>G	NM_001367624.2	NP_001354553.1:p.(Pro2315Arg)	NC_000016.9:g.88500822C>G	(Likely) benign	1 lab	fd850bef82
20:57485805 GNAS CTG>C	20	57485805	57485807	CTG	C	GNAS	c.3036_3037del	NM_080425.4	NP_536350.2:p.(Asn1014HisfsTer10)	NC_000020.10:g.57485806_57485807del	(Likely) pathogenic	1 lab	fd85bed958
19:50916790 POLD1 C>T	19	50916790	50916790	C	T	POLD1	c.2250+12C>T	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50916790C>T	(Likely) benign	1 lab	fd87359498
2:189858574 COL3A1 A>G	2	189858574	189858574	A	G	COL3A1	c.1150-190A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189858574A>G	(Likely) benign	1 lab	fd87eb777e
2:25469574 DNMT3A G>A	2	25469574	25469574	G	A	DNMT3A	c.1194C>T	NM_175629.2	NP_783328.1:p.(Ala398=)	NC_000002.11:g.25469574G>A	(Likely) benign	1 lab	fd880121f9
13:42044586 MISSING G>Alt too long to show for this DUP	13	42044586	42068190	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.42044587_42068190dup	VUS	1 lab	fd88c46cf0
12:21391976 SLCO1B1 A>C	12	21391976	21391976	A	C	SLCO1B1	c.1929A>C	NM_006446.5	NP_006437.3:p.(Leu643Phe)	NC_000012.11:g.21391976A>C	(Likely) benign	1 lab	fd8951ef07
16:921613 LMF1 T>C	16	921613	921613	T	C	LMF1	c.499-272A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921613T>C	(Likely) benign	1 lab	fd896bc321
11:65180840 MISSING Ref too long to show for this DEL>A	11	65180840	65211260	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.65180841_65211260del	VUS	1 lab	fd8981abcd
12:87654057 MISSING Ref too long to show for this DEL>A	12	87654057	92261044	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.87654058_92261044del	(Likely) pathogenic	1 lab	fd8b08ef62
5:178416118 GRM6 C>T	5	178416118	178416118	C	T	GRM6	c.1172G>A	NM_000843.4	NP_000834.2:p.(Arg391Gln)	NC_000005.9:g.178416118C>T	(Likely) benign	1 lab	fd8faaad78
12:21331605 SLCO1B1 C>T	12	21331605	21331605	C	T	SLCO1B1	c.577C>T	NM_006446.5	NP_006437.3:p.(Leu193Phe)	NC_000012.11:g.21331605C>T	(Likely) benign	1 lab	fd921831c2
3:49759374 GMPPB A>ACCCAG	3	49759374	49759388	A	ACCCAG	GMPPB	c.970_974dup	NM_013334.4	NP_037466.3:p.(Gly326TrpfsTer27)	NC_000003.11:g.49759384_49759388dup	VUS	1 lab	fd92a823f0
8:10416252 MISSING Ref too long to show for this DEL>C	8	10416252	10455903	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.10416254_10455903del	VUS	1 lab	fd99b09cad
17:41258503 BRCA1 C>T	17	41258503	41258503	C	T	BRCA1	c.182G>A	NM_007294.4	NP_009225.1:p.(Cys61Tyr)	NC_000017.10:g.41258503C>T	(Likely) pathogenic	1 lab	fd9bb725d7
1:53679141 CPT2 T>C	1	53679141	53679141	T	C	CPT2	c.1851T>C	NM_000098.3	NP_000089.1:p.(His617=)	NC_000001.10:g.53679141T>C	(Likely) benign	1 lab	fd9c254b22
9:139397795 NOTCH1 T>C	9	139397795	139397795	T	C	NOTCH1	c.5019-13A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139397795T>C	(Likely) benign	1 lab	fd9c92f028
16:920310 LMF1 C>G	16	920310	920310	C	G	LMF1	c.834-244G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920310C>G	(Likely) benign	1 lab	fd9d1d55fb
6:16146740 MYLIP G>A	6	16146740	16146740	G	A	MYLIP	c.1249-153G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16146740G>A	(Likely) benign	1 lab	fd9d9951a9
X:77112974 MAGT1 TG>T	X	77112974	77112976	TG	T	MAGT1	c.410del	NM_001367916.1	NP_001354845.1:p.(Pro137GlnfsTer44)	NC_000023.10:g.77112976del	(Likely) pathogenic	1 lab	fd9dc42200
3:46559465 MISSING T>Alt too long to show for this DUP	3	46559465	46636995	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.46559466_46636995dup	VUS	1 lab	fda31518ff
9:133760635 ABL1 A>G	9	133760635	133760635	A	G	ABL1	c.2958A>G	NM_005157.6	NP_005148.2:p.(Pro986=)	NC_000009.11:g.133760635A>G	(Likely) benign	1 lab	fda3e5d775
2:219677295 CYP27A1 G>A	2	219677295	219677295	G	A	CYP27A1	c.667G>A	NM_000784.4	NP_000775.1:p.(Glu223Lys)	NC_000002.11:g.219677295G>A	VUS	1 lab	fda611828c
11:65307074 LTBP3 G>A	11	65307074	65307074	G	A	LTBP3	c.3573C>T	NM_001130144.3	NP_001123616.1:p.(Ser1191=)	NC_000011.9:g.65307074G>A	(Likely) benign	1 lab	fda61246ca
7:120244557 KCND2 A>Alt too long to show for this DUP	7	120244557	120265521	A	Alt too long to show for this DUP	KCND2	c.1116-128399_1116-107436dup	NM_012281.3	NP_036413.1:p.?	NC_000007.13:g.120244558_120265521dup	VUS	1 lab	fdab8f9673
17:48275337 COL1A1 A>AG	17	48275337	48275342	A	AG	COL1A1	c.614dup	NM_000088.4	NP_000079.2:p.(Gly206TrpfsTer2)	NC_000017.10:g.48275342dup	(Likely) pathogenic	1 lab	fdaba42f7c
19:55316424 KIR2DL4 A>G	19	55316424	55316424	A	G	KIR2DL4	c.253A>G	NM_001080772.2	NP_001074241.1:p.(Ser85Gly)	NC_000019.9:g.55316424A>G	(Likely) benign	1 lab	fdaf61169c
5:57738405 MISSING Ref too long to show for this DEL>A	5	57738405	57759254	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.57738406_57759254del	VUS	1 lab	fdb09f8827
2:73681161 ALMS1 G>T	2	73681161	73681161	G	T	ALMS1	c.7510G>T	NM_015120.4	NP_055935.4:p.(Ala2504Ser)	NC_000002.11:g.73681161G>T	VUS	1 lab	fdb2f1b537
9:107561168 ABCA1 TC>T	9	107561168	107561169	TC	T	ABCA1	c.4944-290del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561169del	(Likely) benign	1 lab	fdb49c6b2b
6:32009832 TNXB C>T	6	32009832	32009832	C	T	TNXB	c.12420G>A	NM_019105.8	NP_061978.6:p.(Ala4140=)	NC_000006.11:g.32009832C>T	(Likely) benign	1 lab	fdb4b2bf78
8:19819267 LPL T>C	8	19819267	19819267	T	C	LPL	c.1323-359T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819267T>C	(Likely) benign	1 lab	fdb5105151
2:179394681 TTN A>G	2	179394681	179394681	A	G	TTN	c.106531+6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179394681A>G	(Likely) benign	1 lab	fdb551cee6
6:118697298 MISSING C>Alt too long to show for this DUP	6	118697298	119149968	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.118697300_119149968dup	VUS	1 lab	fdb5a2ddb4
19:11213408 LDLR T>C	19	11213408	11213408	T	C	LDLR	c.259T>C	NM_000527.5	NP_000518.1:p.(Trp87Arg)	NC_000019.9:g.11213408T>C	(Likely) pathogenic	1 lab	fdb69bb294
18:58038952 MC4R G>C	18	58038952	58038952	G	C	MC4R	c.631C>G	NM_005912.3	NP_005903.2:p.(Leu211Val)	NC_000018.9:g.58038952G>C	VUS	1 lab	fdb71204fe
15:99383297 MISSING T>Alt too long to show for this DUP	15	99383297	99758834	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.99383299_99758834dup	VUS	1 lab	fdbac664ad
15:22770420 MISSING A>Alt too long to show for this DUP	15	22770420	23202654	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23202654dup	(Likely) pathogenic	1 lab	fdbac8568c
16:46960881 GPT2 G>A	16	46960881	46960881	G	A	GPT2	c.1113G>A	NM_001142466.3	NP_001135938.1:p.(Leu371=)	NC_000016.9:g.46960881G>A	(Likely) benign	1 lab	fdbb168e50
19:45412298 APOE G>A	19	45412298	45412298	G	A	APOE	c.823G>A	NM_001302688.2	NP_001289617.1:p.(Glu275Lys)	NC_000019.9:g.45412298G>A	VUS	1 lab	fdbc64f74f
19:40902776 PRX C>G	19	40902776	40902776	C	G	PRX	c.1483G>C	NM_181882.3	NP_870998.2:p.(Glu495Gln)	NC_000019.9:g.40902776C>G	(Likely) benign	1 lab	fdbe4de5fa
14:102028244 DIO3 C>T	14	102028244	102028244	C	T	DIO3	c.411C>T	NM_001362.3	NP_001353.4:p.(Asn137=)	NC_000014.8:g.102028244C>T	(Likely) benign	1 lab	fdc0cd4b19
16:46500740 MISSING C>Alt too long to show for this DUP	16	46500740	46856538	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.46500741_46856538dup	(Likely) pathogenic	1 lab	fdc37f05ec
8:133910021 TG C>T	8	133910021	133910021	C	T	TG	c.3129C>T	NM_003235.5	NP_003226.4:p.(His1043=)	NC_000008.10:g.133910021C>T	(Likely) benign	1 lab	fdc3de5ec3
2:5832998 SOX11 A>C	2	5832998	5832998	A	C	SOX11	c.145A>C	NM_003108.4	NP_003099.1:p.(Ile49Leu)	NC_000002.11:g.5832998A>C	(Likely) pathogenic	1 lab	fdc4b9eb98
5:112043429 APC G>C	5	112043429	112043429	G	C	APC				NC_000005.9:g.112043429G>C	(Likely) benign	1 lab	6b4e4c8bdd
1:47882745 FOXE3 G>C	1	47882745	47882745	G	C	FOXE3	c.758G>C	NM_012186.3	NP_036318.1:p.(Cys253Ser)	NC_000001.10:g.47882745G>C	VUS	1 lab	fdc4c8911f
14:23873490 MYH6 G>A	14	23873490	23873490	G	A	MYH6	c.735+15C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873490G>A	(Likely) benign	1 lab	fdc5aeee4c
15:31967068 MISSING Ref too long to show for this DEL>G	15	31967068	32439525	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.31967070_32439525del	(Likely) pathogenic	1 lab	fdc662344d
9:107595072 ABCA1 G>C	9	107595072	107595072	G	C	ABCA1	c.1312-20C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595072G>C	VUS	1 lab	fdcb67fcdc
19:50334046 MED25 G>A	19	50334046	50334046	G	A	MED25	c.1003G>A	NM_030973.4	NP_112235.2:p.(Ala335Thr)	NC_000019.9:g.50334046G>A	VUS	1 lab	fdcde83705
9:107560791 ABCA1 G>C	9	107560791	107560791	G	C	ABCA1	c.5032C>G	NM_005502.4	NP_005493.2:p.(Gln1678Glu)	NC_000009.11:g.107560791G>C	VUS	1 lab	fdcf3e6c1a
8:145740510 RECQL4 C>G	8	145740510	145740510	C	G	RECQL4	c.1483+24G>C	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145740510C>G	(Likely) benign	1 lab	fdcf9eda3b
18:34192019 FHOD3 G>A	18	34192019	34192019	G	A	FHOD3	c.918G>A	NM_001281740.3	NP_001268669.1:p.(Gly306=)	NC_000018.9:g.34192019G>A	(Likely) benign	1 lab	fdd03603a6
12:53722933 SP7 G>T	12	53722933	53722933	G	T	SP7	c.293C>A	NM_001173467.3	NP_001166938.1:p.(Ser98Ter)	NC_000012.11:g.53722933G>T	(Likely) pathogenic	1 lab	fdd0a17028
8:87591084 CNGB3 A>G	8	87591084	87591084	A	G	CNGB3	c.1936T>C	NM_019098.5	NP_061971.3:p.(Leu646=)	NC_000008.10:g.87591084A>G	(Likely) benign	1 lab	fdd14d3386
10:92677569 ANKRD1 G>A	10	92677569	92677569	G	A	ANKRD1	c.472C>T	NM_014391.3	NP_055206.2:p.(His158Tyr)	NC_000010.10:g.92677569G>A	VUS	1 lab	fdd3e1df7a
11:102206700 BIRC3 AT>A	11	102206700	102206703	AT	A	BIRC3	c.1331del	NM_001165.5	NP_001156.1:p.(Leu444TyrfsTer3)	NC_000011.9:g.102206703del	(Likely) pathogenic	1 lab	fdd454f2d5
9:130988306 DNM1 G>A	9	130988306	130988306	G	A	DNM1				NC_000009.11:g.130988306G>A	(Likely) pathogenic	1 lab	888ba2cd98
11:68696715 IGHMBP2 C>T	11	68696715	68696715	C	T	IGHMBP2	c.1125C>T	NM_002180.3	NP_002171.2:p.(Asp375=)	NC_000011.9:g.68696715C>T	(Likely) benign	1 lab	fdd500ea26
13:48807626 ITM2B G>A	13	48807626	48807626	G	A	ITM2B	c.117+13G>A	NM_021999.5	NP_068839.1:p.?	NC_000013.10:g.48807626G>A	(Likely) benign	1 lab	fdd58fa0d6
7:100855855 PLOD3 G>A	7	100855855	100855855	G	A	PLOD3	c.961C>T	NM_001084.5	NP_001075.1:p.(Leu321=)	NC_000007.13:g.100855855G>A	(Likely) benign	1 lab	fdd6c5ba87
4:2502635 MISSING Ref too long to show for this DEL>A	4	2502635	2603964	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.2502636_2603964del	VUS	1 lab	fdda34c510
1:225231636 DNAH14 GT>G	1	225231636	225231640	GT	G	DNAH14	c.1867del	NM_001367479.1	NP_001354408.1:p.(Ser623GlnfsTer2)	NC_000001.10:g.225231640del	(Likely) benign	1 lab	fddb96fdf2
11:68704480 IGHMBP2 G>A	11	68704480	68704480	G	A	IGHMBP2	c.2532G>A	NM_002180.3	NP_002171.2:p.(Ala844=)	NC_000011.9:g.68704480G>A	(Likely) benign	1 lab	fddd17c47a
8:2005526 MYOM2 G>A	8	2005526	2005526	G	A	MYOM2	c.324G>A	NM_003970.4	NP_003961.3:p.(Leu108=)	NC_000008.10:g.2005526G>A	(Likely) benign	1 lab	fdde00555d
9:107554264 ABCA1 G>A	9	107554264	107554264	G	A	ABCA1	c.5773C>T	NM_005502.4	NP_005493.2:p.(Arg1925Trp)	NC_000009.11:g.107554264G>A	VUS	1 lab	fdde8239f4
16:88504239 ZNF469 G>A	16	88504239	88504239	G	A	ZNF469	c.10361G>A	NM_001367624.2	NP_001354553.1:p.(Arg3454Gln)	NC_000016.9:g.88504239G>A	(Likely) benign	1 lab	fde0412b7c
11:1956065 TNNT3 G>A	11	1956065	1956065	G	A	TNNT3	c.573G>A	NM_001297646.2	NP_001284575.1:p.(Lys191=)	NC_000011.9:g.1956065G>A	(Likely) benign	1 lab	fde0be8782
2:179482532 TTN G>C	2	179482532	179482532	G	C	TTN	c.47546C>G	NM_001267550.2	NP_001254479.2:p.(Pro15849Arg)	NC_000002.11:g.179482532G>C	VUS	1 lab	fde0c63b4a
2:27601384 ZNF513 C>T	2	27601384	27601384	C	T	ZNF513	c.749G>A	NM_144631.6	NP_653232.3:p.(Arg250Gln)	NC_000002.11:g.27601384C>T	(Likely) benign	1 lab	fde13a09a1
19:11223684 LDLR T>TGTG	19	11223684	11223685	T	TGTG	LDLR	c.1187-270_1187-269insGTG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223684_11223685insGTG	(Likely) benign	1 lab	fde2684d01
1:220101127 SLC30A10 T>C	1	220101127	220101127	T	C	SLC30A10	c.640+16A>G	NM_018713.3	NP_061183.2:p.?	NC_000001.10:g.220101127T>C	(Likely) benign	1 lab	fde4aca56d
14:61943885 PRKCH Ref too long to show for this DEL>A	14	61943885	61962608	Ref too long to show for this DEL	A	PRKCH	c.1279-8334_1433+10234del	NM_006255.5	NP_006246.2:p.?	NC_000014.8:g.61943886_61962608del	VUS	1 lab	fde81a98fc
10:88492682 LDB3 CAAG>C	10	88492682	88492688	CAAG	C	LDB3	c.2152_2154del	NM_001171610.2	NP_001165081.1:p.(Lys718del)	NC_000010.10:g.88492686_88492688del	VUS	1 lab	fde86ab471
7:82785097 PCLO T>C	7	82785097	82785097	T	C	PCLO	c.860A>G	NM_033026.6	NP_149015.2:p.(Asp287Gly)	NC_000007.13:g.82785097T>C	(Likely) benign	1 lab	fdebd5ad73
1:25893397 LDLRAP1 A>G	1	25893397	25893397	A	G	LDLRAP1	c.841A>G	NM_015627.3	NP_056442.2:p.(Met281Val)	NC_000001.10:g.25893397A>G	(Likely) benign	1 lab	fded11d55c
1:161277166 MPZ T>G	1	161277166	161277166	T	G	MPZ	c.116A>C	NM_000530.8	NP_000521.2:p.(His39Pro)	NC_000001.10:g.161277166T>G	(Likely) pathogenic	1 lab	fdf4154034
12:14720554 PLBD1 GGCA>G	12	14720554	14720576	GGCA	G	PLBD1	c.74_76del	NM_024829.6	NP_079105.4:p.(Leu25del)	NC_000012.11:g.14720574_14720576del	(Likely) benign	1 lab	fdf4f38d65
16:67974344 LCAT C>T	16	67974344	67974344	C	T	LCAT	c.786G>A	NM_000229.2	NP_000220.1:p.(Lys262=)	NC_000016.9:g.67974344C>T	(Likely) benign	1 lab	fdf9e718af
8:10468305 RP1L1 G>C	8	10468305	10468305	G	C	RP1L1	c.3303C>G	NM_178857.6	NP_849188.4:p.(Pro1101=)	NC_000008.10:g.10468305G>C	(Likely) benign	1 lab	fdfa5eae66
1:117705157 VTCN1 Ref too long to show for this DEL>T	1	117705157	117739666	Ref too long to show for this DEL	T	VTCN1	c.32+13782_98-5615del	NM_024626.4	NP_078902.2:p.?	NC_000001.10:g.117705160_117739666del	VUS	1 lab	fdfc709f3c
2:179413223 TTN C>T	2	179413223	179413223	C	T	TTN	c.93130G>A	NM_001267550.2	NP_001254479.2:p.(Gly31044Ser)	NC_000002.11:g.179413223C>T	VUS	1 lab	fdff3b2b4e
3:57994591 FLNB C>A	3	57994591	57994591	C	A	FLNB	c.292+8C>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.57994591C>A	(Likely) benign	1 lab	fe0c3223d5
19:50339023 MED25 G>A	19	50339023	50339023	G	A	MED25	c.1786G>A	NM_030973.4	NP_112235.2:p.(Val596Ile)	NC_000019.9:g.50339023G>A	VUS	1 lab	fe0dbc4bf4
5:178421432 GRM6 C>A	5	178421432	178421432	C	A	GRM6	c.504+10G>T	NM_000843.4	NP_000834.2:p.?	NC_000005.9:g.178421432C>A	(Likely) benign	1 lab	fe102f8fc3
19:11224090 LDLR C>T	19	11224090	11224090	C	T	LDLR	c.1323C>T	NM_000527.5	NP_000518.1:p.(Ile441=)	NC_000019.9:g.11224090C>T	(Likely) benign	1 lab	fe10640ac7
1:43408986 SLC2A1 TCAGCTTCTGCGGAGAAA>T	1	43408986	43409005	TCAGCTTCTGCGGAGAAA	T	SLC2A1	c.19-11_24del	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43408989_43409005del	(Likely) pathogenic	1 lab	fe11341134
3:52485742 TNNC1 C>T	3	52485742	52485742	C	T	TNNC1	c.317+18G>A	NM_003280.3	NP_003271.1:p.?	NC_000003.11:g.52485742C>T	(Likely) benign	1 lab	fe11ddb0a5
19:55667573 TNNI3 A>G	19	55667573	55667573	A	G	TNNI3	c.278T>C	NM_000363.5	NP_000354.4:p.(Leu93Pro)	NC_000019.9:g.55667573A>G	VUS	1 lab	fe155c2cfb
X:32408311 DMD T>C	X	32408311	32408311	T	C	DMD	c.3865-13A>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32408311T>C	(Likely) benign	1 lab	fe15618065
16:55853489 CES1 T>C	16	55853489	55853489	T	C	CES1	c.864A>G	NM_001025195.2	NP_001020366.1:p.(Arg288=)	NC_000016.9:g.55853489T>C	(Likely) benign	1 lab	fe1715b32b
16:55857559 CES1 C>A	16	55857559	55857559	C	A	CES1	c.439G>T	NM_001025194.2	NP_001020365.1:p.(Gly147Cys)	NC_000016.9:g.55857559C>A	(Likely) benign	1 lab	fe17ccd73c
4:100542378 MTTP G>C	4	100542378	100542378	G	C	MTTP	c.2503G>C	NM_000253.4	NP_000244.2:p.(Ala835Pro)	NC_000004.11:g.100542378G>C	(Likely) benign	1 lab	fe2a3de34b
1:243827851 AKT3 Ref too long to show for this DEL>T	1	243827851	243843004	Ref too long to show for this DEL	T	AKT3	c.173-14819_284+222del	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243827852_243843004del	VUS	1 lab	fe190d5c38
2:21249781 APOB T>C	2	21249781	21249781	T	C	APOB	c.2123A>G	NM_000384.3	NP_000375.3:p.(Gln708Arg)	NC_000002.11:g.21249781T>C	(Likely) benign	1 lab	fe19a794ff
1:244218442 ZBTB18 T>C	1	244218442	244218442	T	C	ZBTB18	c.1339T>C	NM_006352.4	NP_006343.2:p.(Phe447Leu)	NC_000001.10:g.244218442T>C	(Likely) pathogenic	1 lab	fe1ae21e8b
6:152746675 SYNE1 T>C	6	152746675	152746675	T	C	SYNE1				NC_000006.11:g.152746675T>C	(Likely) benign	1 lab	8a1564897d
14:81609760 TSHR T>C	14	81609760	81609760	T	C	TSHR	c.1358T>C	NM_000369.5	NP_000360.2:p.(Met453Thr)	NC_000014.8:g.81609760T>C	(Likely) pathogenic	1 lab	fe1c469072
17:41276152 BRCA1 C>CAT	17	41276152	41276164	C	CAT	BRCA1	c.-19-22_-19-21dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276163_41276164dup	(Likely) benign	1 lab	fe21590bd1
19:11230247 LDLR A>G	19	11230247	11230247	A	G	LDLR	c.1846-521A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230247A>G	(Likely) benign	1 lab	fe2163041a
7:114292328 FOXP2 C>T	7	114292328	114292328	C	T	FOXP2	c.1165C>T	NM_014491.4	NP_055306.1:p.(Gln389Ter)	NC_000007.13:g.114292328C>T	(Likely) pathogenic	1 lab	fe218555c4
11:27720918 BDNF AACTC>A	11	27720918	27720928	AACTC	A	BDNF	c.3+22037_3+22040del	NM_170731.5	NP_733927.1:p.?	NC_000011.9:g.27720925_27720928del	(Likely) benign	1 lab	fe21a20561
1:235505313 GGPS1 A>AT	1	235505313	235505320	A	AT	GGPS1	c.142-6dup	NM_001371478.1	NP_001358407.1:p.?	NC_000001.10:g.235505320dup	VUS	1 lab	fe2afa8eff
2:24929626 NCOA1 C>T	2	24929626	24929626	C	T	NCOA1	c.1287C>T	NM_003743.5	NP_003734.3:p.(Ser429=)	NC_000002.11:g.24929626C>T	(Likely) benign	1 lab	fe3112f5d7
3:53779689 CACNA1D C>T	3	53779689	53779689	C	T	CACNA1D	c.3105C>T	NM_000720.4	NP_000711.1:p.(Ile1035=)	NC_000003.11:g.53779689C>T	(Likely) benign	1 lab	fe316203c1
8:22059892 BMP1 A>G	8	22059892	22059892	A	G	BMP1	c.2233+451A>G	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22059892A>G	(Likely) benign	1 lab	fe317c4aba
6:7576287 DSP A>T	6	7576287	7576287	A	T	DSP	c.2631-240A>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7576287A>T	(Likely) benign	1 lab	fe360433fa
14:45658273 FANCM A>G	14	45658273	45658273	A	G	FANCM	c.5048A>G	NM_020937.4	NP_065988.1:p.(Lys1683Arg)	NC_000014.8:g.45658273A>G	(Likely) benign	1 lab	fe387ab9a7
9:4286255 GLIS3 G>A	9	4286255	4286255	G	A	GLIS3	c.171C>T	NM_001042413.2	NP_001035878.1:p.(Asn57=)	NC_000009.11:g.4286255G>A	(Likely) benign	1 lab	fe39750fcc
2:179416556 TTN-AS1 A>C	2	179416556	179416556	A	C	TTN-AS1	n.2043+9468A>C	NR_038272.1		NC_000002.11:g.179416556A>C	(Likely) benign	1 lab	fe39c48892
15:48760232 FBN1 G>A	15	48760232	48760232	G	A	FBN1	c.4650C>T	NM_000138.5	NP_000129.3:p.(Ser1550=)	NC_000015.9:g.48760232G>A	(Likely) benign	1 lab	fe39d25342
16:15476248 MISSING Ref too long to show for this DEL>G	16	15476248	16330672	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.15476249_16330672del	(Likely) pathogenic	1 lab	fe3bf102b8
2:21263891 APOB T>G	2	21263891	21263891	T	G	APOB	c.302A>C	NM_000384.3	NP_000375.3:p.(Glu101Ala)	NC_000002.11:g.21263891T>G	VUS	1 lab	fe3f00ae48
4:100543852 MTTP C>T	4	100543852	100543852	C	T	MTTP	c.2532C>T	NM_000253.4	NP_000244.2:p.(Tyr844=)	NC_000004.11:g.100543852C>T	(Likely) benign	1 lab	fe4ebf4f85
9:137622219 COL5A1 C>T	9	137622219	137622219	C	T	COL5A1	c.1062C>T	NM_000093.5	NP_000084.3:p.(Asp354=)	NC_000009.11:g.137622219C>T	(Likely) benign	1 lab	fe4facf239
X:6451834 VCX3A C>T	X	6451834	6451834	C	T	VCX3A	c.513G>A	NM_016379.4	NP_057463.2:p.(Glu171=)	NC_000023.10:g.6451834C>T	(Likely) benign	1 lab	fe52b6f5e9
8:22059363 BMP1 G>A	8	22059363	22059363	G	A	BMP1	c.2155G>A	NM_006129.5	NP_006120.1:p.(Val719Ile)	NC_000008.10:g.22059363G>A	(Likely) benign	1 lab	fe53962283
8:144997783 PLEC G>A	8	144997783	144997783	G	A	PLEC	c.6725C>T	NM_201380.4	NP_958782.1:p.(Ala2242Val)	NC_000008.10:g.144997783G>A	(Likely) benign	1 lab	fe5d38f8a1
2:219677085 CYP27A1 G>T	2	219677085	219677085	G	T	CYP27A1	c.587G>T	NM_000784.4	NP_000775.1:p.(Ser196Ile)	NC_000002.11:g.219677085G>T	VUS	1 lab	fe5fec1b05
17:39923736 JUP G>A	17	39923736	39923736	G	A	JUP	c.804C>T	NM_001352773.2	NP_001339702.1:p.(Asp268=)	NC_000017.10:g.39923736G>A	(Likely) benign	1 lab	fe62070ea5
14:62145216 MISSING Ref too long to show for this DEL>T	14	62145216	62222574	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.62145218_62222574del	VUS	1 lab	fe6220eff3
19:50335691 MED25 G>A	19	50335691	50335691	G	A	MED25	c.1482+19G>A	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50335691G>A	(Likely) benign	1 lab	fe626b6b4d
15:48812856 FBN1 C>T	15	48812856	48812856	C	T	FBN1	c.1147G>A	NM_000138.5	NP_000129.3:p.(Glu383Lys)	NC_000015.9:g.48812856C>T	(Likely) pathogenic	1 lab	fe62e48e41
19:11210928 LDLR C>T	19	11210928	11210928	C	T	LDLR	c.97C>T	NM_000527.5	NP_000518.1:p.(Gln33Ter)	NC_000019.9:g.11210928C>T	(Likely) pathogenic	1 lab	fe630cd6fc
8:59409618 CYP7A1 A>G	8	59409618	59409618	A	G	CYP7A1	c.453T>C	NM_000780.4	NP_000771.2:p.(Arg151=)	NC_000008.10:g.59409618A>G	(Likely) benign	1 lab	fe6407eca5
20:230175 MISSING Ref too long to show for this DEL>A	20	230175	502937	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.230176_502937del	(Likely) pathogenic	1 lab	fe6bf71c38
15:85400777 ALPK3 C>T	15	85400777	85400777	C	T	ALPK3	c.2808C>T	NM_020778.5	NP_065829.4:p.(Cys936=)	NC_000015.9:g.85400777C>T	(Likely) benign	1 lab	fe72c245ed
2:44066268 ABCG8 TGG>T	2	44066268	44066271	TGG	T	ABCG8	c.63+15_63+16del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066270_44066271del	(Likely) benign	1 lab	fe7712aba2
8:19797251 LPL A>C	8	19797251	19797251	A	C	LPL	c.88+212A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797251A>C	(Likely) benign	1 lab	fe79dea096
11:77835278 ALG8 G>T	11	77835278	77835278	G	T	ALG8	c.175-18C>A	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77835278G>T	(Likely) benign	1 lab	fe7a50685f
15:45445692 DUOX1 ATGTGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTGTG	A	DUOX1	c.3524+57_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445734_45445745del	(Likely) benign	1 lab	fe7c7e937e
17:75488973 SEPTIN9 C>T	17	75488973	75488973	C	T	SEPTIN9	c.1423-89C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75488973C>T	(Likely) benign	1 lab	fe7e2b6d85
20:10620507 JAG1 G>GGCTTCCGCC	20	10620507	10620524	G	GGCTTCCGCC	JAG1	c.3287_3295dup	NM_000214.3	NP_000205.1:p.(Arg1096_Lys1098dup)	NC_000020.10:g.10620516_10620524dup	VUS	1 lab	fe7ee52512
11:117278758 CEP164 C>T	11	117278758	117278758	C	T	CEP164	c.3609+10C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117278758C>T	VUS	1 lab	fe7f091569
X:8597545 ANOS1 G>Alt too long to show for this DUP	X	8597545	8703170	G	Alt too long to show for this DUP	ANOS1				NC_000023.10:g.8597547_8703170dup	VUS	1 lab	fe7fafa3b9
16:27818887 GSG1L A>AAAAAAC	16	27818887	27818903	A	AAAAAAC	GSG1L	c.831-18_831-13dup	NM_001109763.2	NP_001103233.1:p.?	NC_000016.9:g.27818898_27818903dup	(Likely) benign	1 lab	fe810d967d
9:138661815 KCNT1 G>A	9	138661815	138661815	G	A	KCNT1	c.1398G>A	NM_001272003.2	NP_001258932.1:p.(Glu466=)	NC_000009.11:g.138661815G>A	(Likely) benign	1 lab	fe82410a19
17:10442867 MYH2 G>A	17	10442867	10442867	G	A	MYH2	c.1160C>T	NM_001100112.2	NP_001093582.1:p.(Ala387Val)	NC_000017.10:g.10442867G>A	VUS	1 lab	fe842e4ca5
9:137650013 COL5A1 C>T	9	137650013	137650013	C	T	COL5A1	c.1882-76C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137650013C>T	(Likely) benign	1 lab	fe85054a2a
10:61830078 ANK3 T>C	10	61830078	61830078	T	C	ANK3	c.10561A>G	NM_020987.5	NP_066267.2:p.(Ser3521Gly)	NC_000010.10:g.61830078T>C	VUS	1 lab	fe85b138a7
2:179474925 TTN C>A	2	179474925	179474925	C	A	TTN	c.51328G>T	NM_001267550.2	NP_001254479.2:p.(Asp17110Tyr)	NC_000002.11:g.179474925C>A	VUS	1 lab	fe85edd5fd
5:45645373 HCN1 G>A	5	45645373	45645373	G	A	HCN1	c.763C>T	NM_021072.4	NP_066550.2:p.(Arg255Cys)	NC_000005.9:g.45645373G>A	VUS	1 lab	fe87881ecb
2:21228583 APOB G>T	2	21228583	21228583	G	T	APOB	c.11157C>A	NM_000384.3	NP_000375.3:p.(Phe3719Leu)	NC_000002.11:g.21228583G>T	VUS	1 lab	fe8aba1c39
17:15142787 PMP22 C>T	17	15142787	15142787	C	T	PMP22	c.319+1G>A	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15142787C>T	(Likely) pathogenic	1 lab	fe8da21998
2:233127939 DIS3L2 G>A	2	233127939	233127939	G	A	DIS3L2	c.1448G>A	NM_152383.5	NP_689596.4:p.(Arg483Gln)	NC_000002.11:g.233127939G>A	(Likely) benign	1 lab	fe91c508cf
9:107591194 ABCA1 T>C	9	107591194	107591194	T	C	ABCA1	c.2115+3A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591194T>C	(Likely) benign	1 lab	fe97bae078
18:29104522 DSG2 A>AATATACCT	18	29104522	29104530	A	AATATACCT	DSG2	c.803_810dup	NM_001943.5	NP_001934.2:p.(Val271IlefsTer4)	NC_000018.9:g.29104523_29104530dup	(Likely) pathogenic	1 lab	fe9a2b42cf
2:215634012 BARD1 G>T	2	215634012	215634012	G	T	BARD1	c.1339C>A	NM_000465.4	NP_000456.2:p.(Leu447Ile)	NC_000002.11:g.215634012G>T	VUS	1 lab	fea7dfbf16
2:179460214 TTN ATT>A	2	179460214	179460227	ATT	A	TTN	c.57847+18_57847+19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460226_179460227del	(Likely) benign	1 lab	feaad7b4de
10:90697973 ACTA2 T>C	10	90697973	90697973	T	C	ACTA2	c.835A>G	NM_001141945.2	NP_001135417.1:p.(Thr279Ala)	NC_000010.10:g.90697973T>C	(Likely) pathogenic	1 lab	feabd11e19
12:2788590 CACNA1C C>T	12	2788590	2788590	C	T	CACNA1C	c.5092-20C>T	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2788590C>T	(Likely) benign	1 lab	feacceb71b
15:62316035 VPS13C C>T	15	62316035	62316035	C	T	VPS13C	c.458G>A	NM_001018088.3	NP_001018098.1:p.(Arg153His)	NC_000015.9:g.62316035C>T	(Likely) benign	1 lab	feae57c9df
2:179615023 TTN G>GGGGT	2	179615023	179615024	G	GGGGT	TTN	c.11311+2827_11311+2828insACCC	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615023_179615024insGGGT	(Likely) benign	1 lab	feb1caff9a
1:18812478 MISSING CA>C	1	18812478	18812493	CA	C	MISSING				NC_000001.10:g.18812493del	(Likely) benign	1 lab	feb29e6636
11:117124597 MISSING T>Alt too long to show for this DUP	11	117124597	117166140	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117124598_117166140dup	VUS	1 lab	feb390dc85
11:36596185 RAG1 C>T	11	36596185	36596185	C	T	RAG1	c.1331C>T	NM_000448.3	NP_000439.2:p.(Ala444Val)	NC_000011.9:g.36596185C>T	(Likely) pathogenic	1 lab	feb52fdfab
16:89592857 SPG7 C>T	16	89592857	89592857	C	T	SPG7	c.739C>T	NM_001363850.1	NP_001350779.1:p.(Arg247Ter)	NC_000016.9:g.89592857C>T	(Likely) pathogenic	1 lab	feb97ccfde
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+52_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524372_55524391del	(Likely) benign	1 lab	fec5e5f63a
2:21231755 APOB G>C	2	21231755	21231755	G	C	APOB	c.7985C>G	NM_000384.3	NP_000375.3:p.(Thr2662Arg)	NC_000002.11:g.21231755G>C	VUS	1 lab	fec67fd023
1:186086670 HMCN1 G>A	1	186086670	186086670	G	A	HMCN1	c.11763G>A	NM_031935.3	NP_114141.2:p.(Ser3921=)	NC_000001.10:g.186086670G>A	(Likely) benign	1 lab	fece23c01f
10:73468934 CDH23 C>A	10	73468934	73468934	C	A	CDH23	c.3186C>A	NM_022124.6	NP_071407.4:p.(Thr1062=)	NC_000010.10:g.73468934C>A	(Likely) benign	1 lab	fed06efabe
17:48274555 COL1A1 GC>G	17	48274555	48274558	GC	G	COL1A1	c.735del	NM_000088.4	NP_000079.2:p.(Pro246LeufsTer19)	NC_000017.10:g.48274558del	(Likely) pathogenic	1 lab	fed1393ddc
16:46781679 MYLK3 G>C	16	46781679	46781679	G	C	MYLK3	c.427C>G	NM_182493.3	NP_872299.2:p.(Gln143Glu)	NC_000016.9:g.46781679G>C	VUS	1 lab	fed7416e6b
11:48158537 PTPRJ C>CT	11	48158537	48158545	C	CT	PTPRJ	c.1874-10dup	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48158545dup	(Likely) benign	1 lab	fedc1b21ee
19:11217364 LDLR G>T	19	11217364	11217364	G	T	LDLR	c.817+1G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217364G>T	(Likely) pathogenic	1 lab	fede009b5d
16:88497370 ZNF469 C>T	16	88497370	88497370	C	T	ZNF469	c.3492C>T	NM_001367624.2	NP_001354553.1:p.(Gly1164=)	NC_000016.9:g.88497370C>T	(Likely) benign	1 lab	fede6009ab
16:88498747 ZNF469 G>A	16	88498747	88498747	G	A	ZNF469	c.4869G>A	NM_001367624.2	NP_001354553.1:p.(Ser1623=)	NC_000016.9:g.88498747G>A	(Likely) benign	1 lab	fee12deffc
17:48271375 COL1A1 C>A	17	48271375	48271375	C	A	COL1A1	c.1696G>T	NM_000088.4	NP_000079.2:p.(Gly566Ter)	NC_000017.10:g.48271375C>A	(Likely) pathogenic	1 lab	fee5c54246
6:110113763 FIG4 CTT>C	6	110113763	110113775	CTT	C	FIG4	c.2377-11_2377-10del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110113774_110113775del	(Likely) benign	1 lab	feeab84b15
3:123376274 MYLK A>C	3	123376274	123376274	A	C	MYLK	c.3987T>G	NM_053025.4	NP_444253.3:p.(Asp1329Glu)	NC_000003.11:g.123376274A>C	(Likely) benign	1 lab	feeda6f435
18:47101774 LIPG G>T	18	47101774	47101774	G	T	LIPG	c.607G>T	NM_006033.4	NP_006024.1:p.(Asp203Tyr)	NC_000018.9:g.47101774G>T	VUS	1 lab	feedf9a8e5
2:44072219 ABCG8 ATG>A	2	44072219	44072238	ATG	A	ABCG8	c.165+490_165+491del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072237_44072238del	(Likely) benign	1 lab	fef083fc98
13:95830007 MISSING G>Alt too long to show for this DUP	13	95830007	95974779	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.95830008_95974779dup	VUS	1 lab	fef1a7a507
15:58834027 LIPC C>T	15	58834027	58834027	C	T	LIPC	c.317C>T	NM_000236.3	NP_000227.2:p.(Ala106Val)	NC_000015.9:g.58834027C>T	VUS	1 lab	fef21d230e
12:75900395 KRR1 G>GA	12	75900395	75900396	G	GA	KRR1	c.394-7_394-6insT	NM_007043.7	NP_008974.5:p.?	NC_000012.11:g.75900395_75900396insA	(Likely) benign	1 lab	fef5fe04ed
15:58830586 LIPC T>G	15	58830586	58830586	T	G	LIPC	c.143T>G	NM_000236.3	NP_000227.2:p.(Met48Arg)	NC_000015.9:g.58830586T>G	(Likely) benign	1 lab	fef7a33970
2:179434431 TTN T>C	2	179434431	179434431	T	C	TTN	c.76428A>G	NM_001267550.2	NP_001254479.2:p.(Glu25476=)	NC_000002.11:g.179434431T>C	(Likely) benign	1 lab	fef7b9b9aa
6:79656600 PHIP G>GA	6	79656600	79656610	G	GA	PHIP	c.4207-10dup	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79656610dup	(Likely) benign	1 lab	fef8e7d3d4
1:10331621 KIF1B A>G	1	10331621	10331621	A	G	KIF1B	c.782A>G	NM_015074.3	NP_055889.2:p.(Lys261Arg)	NC_000001.10:g.10331621A>G	VUS	1 lab	fefb16720e
4:100515930 MTTP T>C	4	100515930	100515930	T	C	MTTP	c.799T>C	NM_000253.4	NP_000244.2:p.(Leu267=)	NC_000004.11:g.100515930T>C	(Likely) benign	1 lab	fefb654438
16:89839786 FANCA G>A	16	89839786	89839786	G	A	FANCA	c.1907C>T	NM_000135.4	NP_000126.2:p.(Ala636Val)	NC_000016.9:g.89839786G>A	(Likely) benign	1 lab	fefb8624e5
9:107578920 ABCA1 ATGGG>A	9	107578920	107578939	ATGGG	A	ABCA1	c.3536-298_3536-295del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578936_107578939del	(Likely) benign	1 lab	fefbbd9a43
6:41129242 TREM2 C>A	6	41129242	41129242	C	A	TREM2	c.150G>T	NM_018965.4	NP_061838.1:p.(Trp50Cys)	NC_000006.11:g.41129242C>A	(Likely) pathogenic	1 lab	fefd59a067
16:969030 LMF1 T>C	16	969030	969030	T	C	LMF1	c.116-7951A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.969030T>C	(Likely) benign	1 lab	fefe6c2a66
16:1003964 LMF1 GC>G	16	1003964	1003966	GC	G	LMF1	c.503+392del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003966del	(Likely) benign	1 lab	feff05a32d
19:11215949 LDLR T>C	19	11215949	11215949	T	C	LDLR	c.367T>C	NM_000527.5	NP_000518.1:p.(Ser123Pro)	NC_000019.9:g.11215949T>C	(Likely) pathogenic	1 lab	feffb59aa4
10:16762214 RSU1 G>Alt too long to show for this DUP	10	16762214	16802140	G	Alt too long to show for this DUP	RSU1	c.281+4250_599-25061dup	NM_012425.4	NP_036557.1:p.?	NC_000010.10:g.16762216_16802140dup	VUS	1 lab	ff01bd7735
12:125270628 SCARB1 C>T	12	125270628	125270628	C	T	SCARB1	c.*14G>A	NM_001367982.1	NP_001354911.1:p.?	NC_000012.11:g.125270628C>T	VUS	1 lab	ff024dd047
19:11215895 LDLR G>A	19	11215895	11215895	G	A	LDLR	c.314-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11215895G>A	(Likely) pathogenic	1 lab	ff05f49e10
4:650661 PDE6B A>G	4	650661	650661	A	G	PDE6B	c.1108-2A>G	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.650661A>G	(Likely) pathogenic	1 lab	ff09211ff1
15:73615983 HCN4 G>A	15	73615983	73615983	G	A	HCN4	c.2451C>T	NM_005477.3	NP_005468.1:p.(Leu817=)	NC_000015.9:g.73615983G>A	(Likely) benign	1 lab	ff11ea01a4
22:29091867 CHEK2 A>C	22	29091867	29091867	A	C	CHEK2	c.1096-6T>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091867A>C	VUS	1 lab	ff1309ca7e
6:112440413 LAMA4 C>A	6	112440413	112440413	C	A	LAMA4	c.4767G>T	NM_001105206.3	NP_001098676.2:p.(Lys1589Asn)	NC_000006.11:g.112440413C>A	VUS	1 lab	ff131d60fb
X:153608283 EMD TCTC>T	X	153608283	153608291	TCTC	T	EMD	c.188-13_188-11del	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608289_153608291del	(Likely) benign	1 lab	ff14c34320
8:100523559 VPS13B T>C	8	100523559	100523559	T	C	VPS13B	c.4527T>C	NM_017890.5	NP_060360.3:p.(Asn1509=)	NC_000008.10:g.100523559T>C	(Likely) benign	1 lab	ff17113010
2:44099374 ABCG8 A>G	2	44099374	44099374	A	G	ABCG8	c.1140A>G	NM_022437.3	NP_071882.1:p.(Pro380=)	NC_000002.11:g.44099374A>G	(Likely) benign	1 lab	ff17c2ace0
1:26386758 TRIM63 T>C	1	26386758	26386758	T	C	TRIM63	c.596A>G	NM_032588.4	NP_115977.2:p.(Lys199Arg)	NC_000001.10:g.26386758T>C	VUS	1 lab	ff1822dc99
16:67805993 RANBP10 C>CAAAAAAAAAA	16	67805993	67806013	C	CAAAAAAAAAA	RANBP10	c.348-14_348-5dup	NM_020850.3	NP_065901.1:p.?	NC_000016.9:g.67806004_67806013dup	(Likely) benign	1 lab	ff1a0a363a
2:179432844 TTN G>A	2	179432844	179432844	G	A	TTN	c.78015C>T	NM_001267550.2	NP_001254479.2:p.(Asp26005=)	NC_000002.11:g.179432844G>A	(Likely) benign	1 lab	ff1b06c80d
12:121947761 KDM2B G>A	12	121947761	121947761	G	A	KDM2B	c.1256C>T	NM_032590.5	NP_115979.3:p.(Pro419Leu)	NC_000012.11:g.121947761G>A	(Likely) benign	1 lab	ff1c81f83e
5:10254788 CCT5 C>T	5	10254788	10254788	C	T	CCT5	c.55C>T	NM_001306156.2	NP_001293085.1:p.(Leu19Phe)	NC_000005.9:g.10254788C>T	VUS	1 lab	ff1cd98e85
6:16145407 MYLIP G>T	6	16145407	16145407	G	T	MYLIP	c.1107G>T	NM_013262.4	NP_037394.2:p.(Gln369His)	NC_000006.11:g.16145407G>T	VUS	1 lab	ff1df5de83
2:21229386 APOB G>C	2	21229386	21229386	G	C	APOB	c.10354C>G	NM_000384.3	NP_000375.3:p.(Pro3452Ala)	NC_000002.11:g.21229386G>C	VUS	1 lab	ff207e87f0
3:14187482 XPC T>G	3	14187482	14187482	T	G	XPC	c.2782A>C	NM_004628.5	NP_004619.3:p.(Lys928Gln)	NC_000003.11:g.14187482T>G	(Likely) benign	1 lab	ff23c4bf71
17:47684646 SPOP T>C	17	47684646	47684646	T	C	SPOP	c.803A>G	NM_003563.3	NP_003554.1:p.(Lys268Arg)	NC_000017.10:g.47684646T>C	(Likely) benign	1 lab	ff25318001
9:117170230 WHRN G>A	9	117170230	117170230	G	A	WHRN	c.1695C>T	NM_015404.4	NP_056219.3:p.(Ser565=)	NC_000009.11:g.117170230G>A	(Likely) benign	1 lab	ff282a0a7f
4:22389826 ADGRA3 C>T	4	22389826	22389826	C	T	ADGRA3	c.3468G>A	NM_145290.4	NP_660333.2:p.(Ala1156=)	NC_000004.11:g.22389826C>T	(Likely) benign	1 lab	ff2d4bd80a
2:152487292 NEB A>AATTT	2	152487292	152487296	A	AATTT	NEB	c.9656_9659dup	NM_001271208.2	NP_001258137.2:p.(His3221AsnfsTer6)	NC_000002.11:g.152487293_152487296dup	(Likely) pathogenic	1 lab	ff2ee8e39a
2:179398377 TTN C>T	2	179398377	179398377	C	T	TTN	c.95261G>A	NM_133378.4	NP_596869.4:p.(Ser31754Asn)	NC_000002.11:g.179398377C>T	VUS	1 lab	ff2fbca8fe
15:52185120 TMOD3 Ref too long to show for this DEL>A	15	52185120	52198883	Ref too long to show for this DEL	A	TMOD3	c.497-891_1025-2090del	NM_014547.5	NP_055362.1:p.?	NC_000015.9:g.52185121_52198883del	VUS	1 lab	ff36a7a0b4
1:218576299 TGFB2 G>A	1	218576299	218576299	G	A	TGFB2	c.347-2212G>A	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218576299G>A	(Likely) benign	1 lab	ff38d731be
11:2606430 KCNQ1 A>G	11	2606430	2606430	A	G	KCNQ1	c.1033-12A>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2606430A>G	(Likely) benign	1 lab	ff3a60e30c
1:13448199 PRAMEF13 C>T	1	13448199	13448199	C	T	PRAMEF13	c.1276=	NM_001291380.1	NP_001278309.1:p.(Asn426=)	NC_000001.10:g.13448199C>T	(Likely) benign	1 lab	ff3b8b71c2
1:243433530 SDCCAG8 C>T	1	243433530	243433530	C	T	SDCCAG8	c.191C>T	NM_006642.5	NP_006633.1:p.(Ala64Val)	NC_000001.10:g.243433530C>T	VUS	1 lab	ff3c18cb4f
2:179484622 TTN G>A	2	179484622	179484622	G	A	TTN	c.46430-8C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484622G>A	(Likely) benign	1 lab	ff3e29b6e2
11:7634794 PPFIBP2 Ref too long to show for this DEL>C	11	7634794	7660068	Ref too long to show for this DEL	C	PPFIBP2	c.618+3142_1237-895del	NM_003621.5	NP_003612.3:p.?	NC_000011.9:g.7634795_7660068del	VUS	1 lab	ff3ed79f1b
4:55130065 PDGFRA C>G	4	55130065	55130065	C	G	PDGFRA	c.599C>G	NM_006206.6	NP_006197.1:p.(Thr200Ser)	NC_000004.11:g.55130065C>G	(Likely) benign	1 lab	ff416e9f11
10:112582944 RBM20 TG>T	10	112582944	112582950	TG	T	RBM20	c.3317-288del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112582950del	(Likely) benign	1 lab	ff41b1978f
9:107574847 ABCA1 C>T	9	107574847	107574847	C	T	ABCA1	c.4050+8G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107574847C>T	(Likely) benign	1 lab	ff460a79d5
16:70998744 HYDIN CG>C	16	70998744	70998748	CG	C	HYDIN	c.5674del	NM_001270974.2	NP_001257903.1:p.(Arg1892AlafsTer18)	NC_000016.9:g.70998748del	VUS	1 lab	ff46968232
17:48433852 XYLT2 C>T	17	48433852	48433852	C	T	XYLT2	c.1483-20C>T	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48433852C>T	(Likely) benign	1 lab	ff48ce694b
19:11238808 LDLR G>A	19	11238808	11238808	G	A	LDLR	c.2389+47G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238808G>A	(Likely) benign	1 lab	ff48d6d945
16:57017548 CETP GC>G	16	57017548	57017549	GC	G	CETP	c.1453del	NM_000078.3	NP_000069.2:p.(Leu485TrpfsTer8)	NC_000016.9:g.57017549del	VUS	1 lab	ff4986ce89
1:236924283 ACTN2 C>T	1	236924283	236924283	C	T	ACTN2	c.2368-32C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924283C>T	(Likely) benign	1 lab	ff4a75605b
X:70443976 GJB1 T>A	X	70443976	70443976	T	A	GJB1	c.419T>A	NM_000166.6	NP_000157.1:p.(Val140Glu)	NC_000023.10:g.70443976T>A	(Likely) pathogenic	1 lab	ff4b187c54
15:58724371 LIPC C>T	15	58724371	58724371	C	T	LIPC	c.88+52C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724371C>T	(Likely) benign	1 lab	ff4c35b091
14:23886394 MYH7 T>G	14	23886394	23886394	T	G	MYH7	c.4487A>C	NM_000257.4	NP_000248.2:p.(Glu1496Ala)	NC_000014.8:g.23886394T>G	VUS	1 lab	ff4ca6a8ab
22:29130612 CHEK2 G>C	22	29130612	29130612	G	C	CHEK2	c.98C>G	NM_007194.4	NP_009125.1:p.(Ser33Ter)	NC_000022.10:g.29130612G>C	(Likely) pathogenic	1 lab	ff4f16dcc3
3:123366265 MYLK A>C	3	123366265	123366265	A	C	MYLK	c.4425T>G	NM_053025.4	NP_444253.3:p.(Phe1475Leu)	NC_000003.11:g.123366265A>C	VUS	1 lab	ff4f196713
12:59284551 LRIG3 G>T	12	59284551	59284551	G	T	LRIG3	c.411C>A	NM_153377.5	NP_700356.2:p.(Leu137=)	NC_000012.11:g.59284551G>T	(Likely) benign	1 lab	ff4ffcb40b
15:45453027 DUOX1 C>T	15	45453027	45453027	C	T	DUOX1	c.3703-8C>T	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45453027C>T	(Likely) benign	1 lab	ff505445f0
17:61766961 MAP3K3 C>T	17	61766961	61766961	C	T	MAP3K3	c.1022C>T	NM_203351.3	NP_976226.1:p.(Pro341Leu)	NC_000017.10:g.61766961C>T	VUS	1 lab	ff51ab68cb
17:39919565 JUP C>T	17	39919565	39919565	C	T	JUP	c.1167G>A	NM_002230.4	NP_002221.1:p.(Leu389=)	NC_000017.10:g.39919565C>T	(Likely) benign	1 lab	ff51be9a25
9:137707804 COL5A1 C>G	9	137707804	137707804	C	G	COL5A1	c.4092C>G	NM_000093.5	NP_000084.3:p.(Asp1364Glu)	NC_000009.11:g.137707804C>G	VUS	1 lab	ff5468e233
X:101480782 MISSING C>Alt too long to show for this DUP	X	101480782	101615554	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.101480785_101615554dup	VUS	1 lab	ff5651db41
5:59189213 PDE4D GGGC>G	5	59189213	59189228	GGGC	G	PDE4D	c.234_236del	NM_001104631.2	NP_001098101.1:p.(Pro80del)	NC_000005.9:g.59189226_59189228del	(Likely) benign	1 lab	ff569cf69f
19:22363448 ZNF676 A>T	19	22363448	22363448	A	T	ZNF676	c.1071T>A	NM_001001411.3	NP_001001411.2:p.(Ile357=)	NC_000019.9:g.22363448A>T	(Likely) benign	1 lab	ff56b21568
14:23870101 MYH6 G>A	14	23870101	23870101	G	A	MYH6	c.1227C>T	NM_002471.4	NP_002462.2:p.(Asn409=)	NC_000014.8:g.23870101G>A	(Likely) benign	1 lab	ff5b37edb1
3:70008543 MITF C>Alt too long to show for this DUP	3	70008543	70018059	C	Alt too long to show for this DUP	MITF				NC_000003.11:g.70008544_70018059dup	VUS	1 lab	ff628a2cde
3:145788815 PLOD2 A>G	3	145788815	145788815	A	G	PLOD2	c.2121+14T>C	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145788815A>G	(Likely) benign	1 lab	ff64cb2e85
X:41205821 DDX3X G>A	X	41205821	41205821	G	A	DDX3X	c.1561G>A	NM_001356.5	NP_001347.3:p.(Asp521Asn)	NC_000023.10:g.41205821G>A	VUS	1 lab	ff6ac828b7
3:38647391 SCN5A C>A	3	38647391	38647391	C	A	SCN5A	c.1338+51G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647391C>A	(Likely) benign	1 lab	ff6dca97a1
6:56485241 DST G>A	6	56485241	56485241	G	A	DST	c.3591C>T	NM_001723.7	NP_001714.1:p.(Arg1197=)	NC_000006.11:g.56485241G>A	(Likely) benign	1 lab	ff710e692d
1:237824263 RYR2 G>C	1	237824263	237824263	G	C	RYR2	c.8436+16G>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237824263G>C	(Likely) benign	1 lab	ff74edd580
19:11233632 LDLR G>A	19	11233632	11233632	G	A	LDLR	c.2141-218G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233632G>A	(Likely) pathogenic	1 lab	ff7648c190
X:118604444 SLC25A5 G>C	X	118604444	118604444	G	C	SLC25A5	c.707G>C	NM_001152.5	NP_001143.2:p.(Arg236Pro)	NC_000023.10:g.118604444G>C	(Likely) benign	1 lab	ff772a6a87
15:101791443 CHSY1 G>T	15	101791443	101791443	G	T	CHSY1	c.219C>A	NM_014918.5	NP_055733.2:p.(Pro73=)	NC_000015.9:g.101791443G>T	(Likely) benign	1 lab	ff7a4dc689
X:46713289 RP2 G>T	X	46713289	46713289	G	T	RP2	c.481G>T	NM_006915.3	NP_008846.2:p.(Asp161Tyr)	NC_000023.10:g.46713289G>T	VUS	1 lab	ff7befb8df
15:28326985 OCA2 G>A	15	28326985	28326985	G	A	OCA2	c.36C>T	NM_000275.3	NP_000266.2:p.(Pro12=)	NC_000015.9:g.28326985G>A	(Likely) benign	1 lab	ff7f72145d
6:169972639 WDR27 C>CAAAAAAAAA	6	169972639	169972665	C	CAAAAAAAAA	WDR27	c.2524-12_2524-4dup	NM_182552.5	NP_872358.4:p.?	NC_000006.11:g.169972657_169972665dup	(Likely) benign	1 lab	ff838e160f
11:33881016 LMO2 T>C	11	33881016	33881016	T	C	LMO2	c.570A>G	NM_005574.4	NP_005565.2:p.(Lys190=)	NC_000011.9:g.33881016T>C	(Likely) benign	1 lab	ff84ccd49b
12:5154667 KCNA5 G>A	12	5154667	5154667	G	A	KCNA5	c.1354G>A	NM_002234.4	NP_002225.2:p.(Val452Ile)	NC_000012.11:g.5154667G>A	VUS	1 lab	ff84e28f05
15:60741824 ICE2 CT>C	15	60741824	60741825	CT	C	ICE2	c.1341del	NM_024611.6	NP_078887.2:p.(Asp448ThrfsTer13)	NC_000015.9:g.60741825del	VUS	1 lab	ff866d711a
X:32632409 DMD G>A	X	32632409	32632409	G	A	DMD	c.1113+11C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32632409G>A	(Likely) benign	1 lab	ff87a48b25
17:10441153 MYH2 C>G	17	10441153	10441153	C	G	MYH2	c.1417-1G>C	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10441153C>G	(Likely) pathogenic	1 lab	ff8952a250
2:21266399 APOB C>G	2	21266399	21266399	C	G	APOB	c.107G>C	NM_000384.3	NP_000375.3:p.(Ser36Thr)	NC_000002.11:g.21266399C>G	(Likely) benign	1 lab	ff899b4535
1:949831 ISG15 C>T	1	949831	949831	C	T	ISG15	c.471C>T	NM_005101.4	NP_005092.1:p.(Gly157=)	NC_000001.10:g.949831C>T	(Likely) benign	1 lab	ff8cbc0399
3:100976386 IMPG2 C>T	3	100976386	100976386	C	T	IMPG2	c.1140G>A	NM_016247.4	NP_057331.2:p.(Leu380=)	NC_000003.11:g.100976386C>T	(Likely) benign	1 lab	ff8d548e5e
3:59958565 FHIT Ref too long to show for this DEL>G	3	59958565	60011161	Ref too long to show for this DEL	G	FHIT	c.104-11283_279+38531del	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.59958566_60011161del	VUS	1 lab	ff8e3132a6
2:234235799 SAG C>T	2	234235799	234235799	C	T	SAG	c.468C>T	NM_000541.5	NP_000532.2:p.(Phe156=)	NC_000002.11:g.234235799C>T	(Likely) benign	1 lab	ff8f48d1d3
7:128494528 FLNC C>T	7	128494528	128494528	C	T	FLNC	c.6789C>T	NM_001458.5	NP_001449.3:p.(Ala2263=)	NC_000007.13:g.128494528C>T	(Likely) benign	1 lab	ff964f4056
10:79295026 MISSING C>Alt too long to show for this DUP	10	79295026	79578885	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.79295029_79578885dup	VUS	1 lab	ff964f6f8a
1:220275490 IARS2 A>C	1	220275490	220275490	A	C	IARS2	c.570A>C	NM_018060.4	NP_060530.3:p.(Ala190=)	NC_000001.10:g.220275490A>C	(Likely) benign	1 lab	ff9904267a
6:16145383 MYLIP C>T	6	16145383	16145383	C	T	MYLIP	c.1083C>T	NM_013262.4	NP_037394.2:p.(Ser361=)	NC_000006.11:g.16145383C>T	(Likely) benign	1 lab	ff9a821dc6
9:137623944 COL5A1 C>T	9	137623944	137623944	C	T	COL5A1	c.1360C>T	NM_000093.5	NP_000084.3:p.(Gln454Ter)	NC_000009.11:g.137623944C>T	(Likely) pathogenic	1 lab	ff9da0895d
2:73784336 ALMS1 C>T	2	73784336	73784336	C	T	ALMS1	c.10082-11C>T	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73784336C>T	(Likely) benign	1 lab	ffaec71251
14:92403403 FBLN5 TGAGTAGGGGGTC>T	14	92403403	92403424	TGAGTAGGGGGTC	T	FBLN5	c.87_98del	NM_001384161.1	NP_001371090.1:p.(Thr30_Ser33del)	NC_000014.8:g.92403413_92403424del	VUS	1 lab	ffa20f2936
14:64634067 SYNE2 A>G	14	64634067	64634067	A	G	SYNE2	c.16722A>G	NM_182914.3	NP_878918.2:p.(Gln5574=)	NC_000014.8:g.64634067A>G	(Likely) benign	1 lab	ffa9d02ff3
19:11213428 LDLR G>A	19	11213428	11213428	G	A	LDLR	c.279G>A	NM_000527.5	NP_000518.1:p.(Val93=)	NC_000019.9:g.11213428G>A	(Likely) benign	1 lab	ffaa19db57
14:88859848 SPATA7 T>C	14	88859848	88859848	T	C	SPATA7	c.190+16T>C	NM_018418.5	NP_060888.2:p.?	NC_000014.8:g.88859848T>C	(Likely) benign	1 lab	ffaa77928b
7:103185751 RELN C>T	7	103185751	103185751	C	T	RELN	c.6343G>A	NM_005045.4	NP_005036.2:p.(Gly2115Ser)	NC_000007.13:g.103185751C>T	(Likely) benign	1 lab	ffabca8ce3
17:7480963 EIF4A1 G>A	17	7480963	7480963	G	A	EIF4A1	c.845G>A	NM_001416.4	NP_001407.1:p.(Arg282Gln)	NC_000017.10:g.7480963G>A	VUS	1 lab	ffadd513f2
16:21801888 MISSING Ref too long to show for this DEL>T	16	21801888	22441367	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.21801889_22441367del	(Likely) pathogenic	1 lab	ffaf459cda
15:73615626 HCN4 C>T	15	73615626	73615626	C	T	HCN4	c.2808G>A	NM_005477.3	NP_005468.1:p.(Pro936=)	NC_000015.9:g.73615626C>T	(Likely) benign	1 lab	ffb4780bb6
11:10785358 CTR9 G>A	11	10785358	10785358	G	A	CTR9	c.1126G>A	NM_014633.5	NP_055448.1:p.(Glu376Lys)	NC_000011.9:g.10785358G>A	VUS	1 lab	ffb51668d0
5:33964014 SLC45A2 A>G	5	33964014	33964014	A	G	SLC45A2	c.670T>C	NM_001012509.4	NP_001012527.2:p.(Leu224=)	NC_000005.9:g.33964014A>G	(Likely) benign	1 lab	ffb57f3e16
1:25891687 LDLRAP1 A>C	1	25891687	25891687	A	C	LDLRAP1	c.771A>C	NM_015627.3	NP_056442.2:p.(Glu257Asp)	NC_000001.10:g.25891687A>C	(Likely) pathogenic	1 lab	ffb5c628ec
19:38935306 RYR1 G>T	19	38935306	38935306	G	T	RYR1	c.620G>T	NM_000540.3	NP_000531.2:p.(Arg207Leu)	NC_000019.9:g.38935306G>T	VUS	1 lab	ffb6abf06d
2:179462439 TTN C>T	2	179462439	179462439	C	T	TTN	c.57370G>A	NM_001267550.2	NP_001254479.2:p.(Val19124Ile)	NC_000002.11:g.179462439C>T	(Likely) benign	1 lab	ffb729f123
19:38942444 RYR1 C>T	19	38942444	38942444	C	T	RYR1	c.1163C>T	NM_000540.3	NP_000531.2:p.(Ser388Leu)	NC_000019.9:g.38942444C>T	VUS	1 lab	ffbb48dee4
6:75822755 COL12A1 T>G	6	75822755	75822755	T	G	COL12A1	c.7950+165A>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75822755T>G	(Likely) benign	1 lab	ffbe2e2283
8:62596635 ASPH G>A	8	62596635	62596635	G	A	ASPH	c.216C>T	NM_004318.4	NP_004309.2:p.(Val72=)	NC_000008.10:g.62596635G>A	(Likely) benign	1 lab	ffccfc1d13
2:74834314 MISSING C>Alt too long to show for this DUP	2	74834314	75361499	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74834315_75361499dup	VUS	1 lab	ffcd0d97cf
19:45412428 APOE G>A	19	45412428	45412428	G	A	APOE	c.953G>A	NM_001302688.2	NP_001289617.1:p.(Arg318His)	NC_000019.9:g.45412428G>A	VUS	1 lab	ffd0207e57
11:75280006 SERPINH1 C>T	11	75280006	75280006	C	T	SERPINH1	c.744C>T	NM_001235.5	NP_001226.2:p.(Asp248=)	NC_000011.9:g.75280006C>T	(Likely) benign	1 lab	ffd3f045b9
19:13319693 CACNA1A A>ATGG	19	13319693	13319722	A	ATGG	CACNA1A	c.6672_6674dup	NM_023035.3	NP_075461.2:p.(His2225dup)	NC_000019.9:g.13319720_13319722dup	(Likely) benign	1 lab	ffd8b465d2
1:3350173 PRDM16 T>C	1	3350173	3350173	T	C	PRDM16	c.3697-68T>C	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350173T>C	(Likely) benign	1 lab	ffd94949ae
4:86750698 ARHGAP24 G>Alt too long to show for this DUP	4	86750698	86777379	G	Alt too long to show for this DUP	ARHGAP24	c.269-94101_269-67422dup	NM_001025616.3	NP_001020787.2:p.?	NC_000004.11:g.86750700_86777379dup	VUS	1 lab	ffdb83f5bc
3:38622756 SCN5A C>T	3	38622756	38622756	C	T	SCN5A	c.2894G>A	NM_198056.3	NP_932173.1:p.(Arg965His)	NC_000003.11:g.38622756C>T	VUS	1 lab	ffdb9e9a64
15:58853197 LIPC G>GCC	15	58853197	58853202	G	GCC	LIPC	c.1169+21_1169+22dup	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853201_58853202dup	(Likely) benign	1 lab	ffde1d1ef9
4:100504685 MTTP G>A	4	100504685	100504685	G	A	MTTP	c.393+11G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504685G>A	(Likely) benign	1 lab	ffdf8f7dcc
2:179485942 TTN A>G	2	179485942	179485942	A	G	TTN	c.45503T>C	NM_001267550.2	NP_001254479.2:p.(Ile15168Thr)	NC_000002.11:g.179485942A>G	VUS	1 lab	ffdfccbc8f
2:44052157 ABCG5 G>A	2	44052157	44052157	G	A	ABCG5	c.775C>T	NM_022436.3	NP_071881.1:p.(Leu259Phe)	NC_000002.11:g.44052157G>A	(Likely) pathogenic	1 lab	ffe0470d9e
X:31227667 DMD C>T	X	31227667	31227667	C	T	DMD	c.9511G>A	NM_004006.3	NP_003997.2:p.(Val3171Ile)	NC_000023.10:g.31227667C>T	VUS	1 lab	ffe5194b15
2:152473985 NEB AC>A	2	152473985	152473986	AC	A	NEB	c.11077-4del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152473986del	(Likely) benign	1 lab	ffe6f991bc
17:74474902 RHBDF2 C>T	17	74474902	74474902	C	T	RHBDF2	c.745G>A	NM_024599.5	NP_078875.4:p.(Ala249Thr)	NC_000017.10:g.74474902C>T	(Likely) benign	1 lab	ffe7ec4763
1:40773119 COL9A2 G>T	1	40773119	40773119	G	T	COL9A2	c.1007C>A	NM_001852.4	NP_001843.1:p.(Ala336Glu)	NC_000001.10:g.40773119G>T	(Likely) benign	1 lab	ffe9bf308c
8:1814737 ARHGEF10 C>T	8	1814737	1814737	C	T	ARHGEF10	c.666C>T	NM_001308153.2	NP_001295082.1:p.(Ala222=)	NC_000008.10:g.1814737C>T	(Likely) benign	1 lab	fff4d2f3bd
17:1381399 MYO1C G>A	17	1381399	1381399	G	A	MYO1C	c.1383C>T	NM_001080779.2	NP_001074248.1:p.(Tyr461=)	NC_000017.10:g.1381399G>A	(Likely) benign	1 lab	fff5066636
5:24823775 MISSING Ref too long to show for this DEL>T	5	24823775	25758264	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.24823779_25758264del	VUS	1 lab	fff6e7e6c6
1:59394715 MISSING T>Alt too long to show for this DUP	1	59394715	59898672	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.59394716_59898672dup	VUS	1 lab	fff77e86c0
15:20740040 GOLGA6L6 A>C	15	20740040	20740040	A	C	GOLGA6L6	c.1632T>G	NM_001145004.2	NP_001138476.2:p.(Asp544Glu)	NC_000015.9:g.20740040A>C	(Likely) benign	1 lab	fff7b6c3e2
5:37157424 CPLANE1 G>A	5	37157424	37157424	G	A	CPLANE1	c.8110C>T	NM_001384732.1	NP_001371661.1:p.(Gln2704Ter)	NC_000005.9:g.37157424G>A	(Likely) benign	1 lab	fff810df5b
6:152685964 SYNE1 G>C	6	152685964	152685964	G	C	SYNE1	c.10145+18C>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152685964G>C	(Likely) benign	1 lab	fffa45fe78
11:125888213 CDON C>T	11	125888213	125888213	C	T	CDON	c.640+12G>A	NM_001243597.2	NP_001230526.1:p.?	NC_000011.9:g.125888213C>T	(Likely) benign	1 lab	fffa4d8d85
2:44101597 ABCG8 C>A	2	44101597	44101597	C	A	ABCG8	c.1463C>A	NM_022437.3	NP_071882.1:p.(Thr488Asn)	NC_000002.11:g.44101597C>A	(Likely) pathogenic	1 lab	fffddfd13b
2:220285023 DES A>G	2	220285023	220285023	A	G	DES	c.690A>G	NM_001927.4	NP_001918.3:p.(Glu230=)	NC_000002.11:g.220285023A>G	(Likely) benign	1 lab	fffe2bb533
7:128485333 FLNC A>G	7	128485333	128485333	A	G	FLNC	c.3790+24A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128485333A>G	(Likely) benign	1 lab	ffff469397
6:100841439 SIM1 CA>C	6	100841439	100841440	CA	C	SIM1	c.1493del	NM_005068.3	NP_005059.2:p.(Leu498ArgfsTer71)	NC_000006.11:g.100841440del	VUS	1 lab	000ae55c7c
X:106740167 MISSING C>Alt too long to show for this DUP	X	106740167	107441657	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.106740169_107441657dup	(Likely) pathogenic	1 lab	000c3dac06
2:113148649 RGPD8 GAAA>G	2	113148649	113148661	GAAA	G	RGPD8	c.2603-6_2603-4del	NM_001164463.1	NP_001157935.1:p.?	NC_000002.11:g.113148659_113148661del	(Likely) benign	1 lab	001160ba51
11:125891295 CDON T>C	11	125891295	125891295	T	C	CDON	c.197A>G	NM_001243597.2	NP_001230526.1:p.(Lys66Arg)	NC_000011.9:g.125891295T>C	(Likely) benign	1 lab	0011e43faf
15:41340491 INO80 T>A	15	41340491	41340491	T	A	INO80	c.2577-17A>T	NM_017553.3	NP_060023.1:p.?	NC_000015.9:g.41340491T>A	(Likely) benign	1 lab	00139699f8
19:15311669 NOTCH3 C>T	19	15311669	15311669	C	T	NOTCH3	c.48G>A	NM_000435.3	NP_000426.2:p.(Ser16=)	NC_000019.9:g.15311669C>T	(Likely) benign	1 lab	0017d3c878
10:104210640 C10orf95 C>T	10	104210640	104210640	C	T	C10orf95	c.211G>A	NM_001363580.1	NP_001350509.1:p.(Ala71Thr)	NC_000010.10:g.104210640C>T	(Likely) benign	1 lab	0017fb483c
9:107623626 ABCA1 C>T	9	107623626	107623626	C	T	ABCA1	c.543+334G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623626C>T	(Likely) benign	1 lab	001daa71ca
2:212578390 ERBB4 A>G	2	212578390	212578390	A	G	ERBB4	c.884-17T>C	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578390A>G	(Likely) benign	1 lab	001ea3f5cf
2:21230591 APOB G>A	2	21230591	21230591	G	A	APOB	c.9149C>T	NM_000384.3	NP_000375.3:p.(Thr3050Ile)	NC_000002.11:g.21230591G>A	VUS	1 lab	0022432476
7:6017269 PMS2 G>A	7	6017269	6017269	G	A	PMS2	c.2395C>T	NM_000535.7	NP_000526.2:p.(Arg799Trp)	NC_000007.13:g.6017269G>A	VUS	1 lab	002271e28b
5:133945272 SAR1B C>T	5	133945272	133945272	C	T	SAR1B	c.337G>A	NM_001033503.3	NP_001028675.1:p.(Glu113Lys)	NC_000005.9:g.133945272C>T	VUS	1 lab	0026915f12
15:57642062 MISSING Ref too long to show for this DEL>T	15	57642062	57798978	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.57642064_57798978del	VUS	1 lab	00287533e7
9:101589059 GALNT12 T>C	9	101589059	101589059	T	C	GALNT12	c.567T>C	NM_024642.5	NP_078918.3:p.(Asn189=)	NC_000009.11:g.101589059T>C	(Likely) benign	1 lab	0029b74279
11:2799233 KCNQ1 C>T	11	2799233	2799233	C	T	KCNQ1	c.1760C>T	NM_000218.3	NP_000209.2:p.(Thr587Met)	NC_000011.9:g.2799233C>T	(Likely) pathogenic	1 lab	002a7e3512
1:70909728 MISSING Ref too long to show for this DEL>A	1	70909728	70942258	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.70909729_70942258del	VUS	1 lab	002f861fbc
X:129261952 AIFM1 A>Alt too long to show for this DUP	X	129261952	129266974	A	Alt too long to show for this DUP	AIFM1				NC_000023.10:g.129261954_129266974dup	VUS	1 lab	0032ad245c
20:22563526 FOXA2 C>A	20	22563526	22563526	C	A	FOXA2	c.336G>T	NM_153675.3	NP_710141.1:p.(Pro112=)	NC_000020.10:g.22563526C>A	(Likely) benign	1 lab	0038254b22
16:67974195 LCAT T>C	16	67974195	67974195	T	C	LCAT	c.935A>G	NM_000229.2	NP_000220.1:p.(Glu312Gly)	NC_000016.9:g.67974195T>C	VUS	1 lab	0038e53a27
9:86818644 MISSING T>Alt too long to show for this DUP	9	86818644	87106215	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.86818645_87106215dup	VUS	1 lab	003ba87a24
15:58838575 LIPC G>A	15	58838575	58838575	G	A	LIPC	c.808+401G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58838575G>A	(Likely) benign	1 lab	003fdf650a
19:50813023 MYH14 G>T	19	50813023	50813023	G	T	MYH14	c.6087G>T	NM_001145809.2	NP_001139281.1:p.(Gly2029=)	NC_000019.9:g.50813023G>T	(Likely) benign	1 lab	004010758e
1:55527248 PCSK9 C>A	1	55527248	55527248	C	A	PCSK9	c.1863+19C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527248C>A	(Likely) benign	1 lab	004acdf893
6:79692624 PHIP CTTCT>C	6	79692624	79692630	CTTCT	C	PHIP	c.2744_2747del	NM_017934.7	NP_060404.4:p.(Lys915SerfsTer15)	NC_000006.11:g.79692627_79692630del	(Likely) pathogenic	1 lab	004c68336e
22:21011083 MISSING C>Alt too long to show for this DUP	22	21011083	21465662	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21011084_21465662dup	VUS	1 lab	004c867200
4:100515874 MTTP CT>C	4	100515874	100515877	CT	C	MTTP	c.759-13del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100515877del	(Likely) benign	1 lab	004ceb3a7f
20:42744323 JPH2 C>T	20	42744323	42744323	C	T	JPH2	c.1992G>A	NM_020433.5	NP_065166.2:p.(Ala664=)	NC_000020.10:g.42744323C>T	(Likely) benign	1 lab	0050c22fb5
20:54824849 MC3R G>T	20	54824849	54824849	G	T	MC3R	c.950G>T	NM_019888.3	NP_063941.3:p.(Cys317Phe)	NC_000020.10:g.54824849G>T	VUS	1 lab	0051883705
4:113506885 ZGRF1 CAAA>C	4	113506885	113506899	CAAA	C	ZGRF1	c.3917-7_3917-5del	NM_018392.5	NP_060862.3:p.?	NC_000004.11:g.113506897_113506899del	(Likely) benign	1 lab	0059874e9f
X:70444150 GJB1 C>T	X	70444150	70444150	C	T	GJB1	c.593C>T	NM_000166.6	NP_000157.1:p.(Ser198Phe)	NC_000023.10:g.70444150C>T	(Likely) pathogenic	1 lab	0069209898
1:237947563 RYR2 A>G	1	237947563	237947563	A	G	RYR2	c.12551A>G	NM_001035.3	NP_001026.2:p.(Glu4184Gly)	NC_000001.10:g.237947563A>G	(Likely) pathogenic	1 lab	006a6468f7
8:59409373 CYP7A1 T>C	8	59409373	59409373	T	C	CYP7A1	c.698A>G	NM_000780.4	NP_000771.2:p.(Asn233Ser)	NC_000008.10:g.59409373T>C	(Likely) benign	1 lab	00743c55df
8:19816610 LPL G>A	8	19816610	19816610	G	A	LPL	c.1019-161G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816610G>A	(Likely) benign	1 lab	007672587c
7:146242224 CNTNAP2 Ref too long to show for this DEL>T	7	146242224	146490329	Ref too long to show for this DEL	T	CNTNAP2	c.98-229138_208+18856del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146242225_146490329del	(Likely) pathogenic	1 lab	00789c8fc1
2:220494118 SLC4A3 A>G	2	220494118	220494118	A	G	SLC4A3	c.470A>G	NM_201574.3	NP_963868.3:p.(His157Arg)	NC_000002.11:g.220494118A>G	(Likely) benign	1 lab	007a3a013e
8:87680274 CNGB3 GT>G	8	87680274	87680277	GT	G	CNGB3	c.615del	NM_019098.5	NP_061971.3:p.(Lys205AsnfsTer6)	NC_000008.10:g.87680277del	(Likely) pathogenic	1 lab	007c7d71f8
19:18583696 ELL T>TAAAA	19	18583696	18583719	T	TAAAA	ELL	c.136-8_136-5dup	NM_006532.4	NP_006523.1:p.?	NC_000019.9:g.18583716_18583719dup	(Likely) benign	1 lab	008164fdc2
12:65138636 GNS G>A	12	65138636	65138636	G	A	GNS	c.577C>T	NM_002076.4	NP_002067.1:p.(Arg193Trp)	NC_000012.11:g.65138636G>A	VUS	1 lab	008317d78b
14:81528481 TSHR T>C	14	81528481	81528481	T	C	TSHR	c.171-11T>C	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81528481T>C	(Likely) benign	1 lab	0087140657
12:21970251 ABCC9 G>T	12	21970251	21970251	G	T	ABCC9	c.3772-10C>A	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21970251G>T	VUS	1 lab	00880ff1dd
2:149241272 MBD5 A>G	2	149241272	149241272	A	G	MBD5	c.3112A>G	NM_001378120.1	NP_001365049.1:p.(Ser1038Gly)	NC_000002.11:g.149241272A>G	(Likely) benign	1 lab	008916edec
6:7580312 DSP C>T	6	7580312	7580312	C	T	DSP	c.3889C>T	NM_004415.4	NP_004406.2:p.(Gln1297Ter)	NC_000006.11:g.7580312C>T	(Likely) pathogenic	1 lab	008a7aa4c6
16:67977904 LCAT G>A	16	67977904	67977904	G	A	LCAT	c.101C>T	NM_000229.2	NP_000220.1:p.(Pro34Leu)	NC_000016.9:g.67977904G>A	(Likely) pathogenic	1 lab	008ae9d626
9:107578103 ABCA1 A>C	9	107578103	107578103	A	C	ABCA1	c.3738+321T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578103A>C	(Likely) benign	1 lab	008d63cc71
16:1497039 CLCN7 G>A	16	1497039	1497039	G	A	CLCN7	c.2299C>T	NM_001287.6	NP_001278.1:p.(Arg767Trp)	NC_000016.9:g.1497039G>A	(Likely) pathogenic	1 lab	008d89c679
20:19955593 RIN2 A>C	20	19955593	19955593	A	C	RIN2	c.1071A>C	NM_001242581.2	NP_001229510.1:p.(Pro357=)	NC_000020.10:g.19955593A>C	(Likely) benign	1 lab	008e2a1c4b
4:16181300 TAPT1 C>T	4	16181300	16181300	C	T	TAPT1	c.917-20G>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16181300C>T	(Likely) benign	1 lab	008e62fe27
17:15852124 MISSING Ref too long to show for this DEL>A	17	15852124	18515769	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.15852126_18515769del	(Likely) pathogenic	1 lab	009844b30a
16:15820689 MYH11 C>T	16	15820689	15820689	C	T	MYH11	c.3879+16G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15820689C>T	(Likely) benign	1 lab	0112af573c
4:103534578 NFKB1 A>G	4	103534578	103534578	A	G	NFKB1	c.2593-4A>G	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103534578A>G	(Likely) benign	1 lab	009aee6548
8:59409721 CYP7A1 A>G	8	59409721	59409721	A	G	CYP7A1	c.350T>C	NM_000780.4	NP_000771.2:p.(Met117Thr)	NC_000008.10:g.59409721A>G	VUS	1 lab	00a154dfa5
10:54011272 PRKG1 G>A	10	54011272	54011272	G	A	PRKG1	c.1077-58G>A	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.54011272G>A	(Likely) benign	1 lab	00b18d682e
9:107602721 ABCA1 G>A	9	107602721	107602721	G	A	ABCA1	c.893C>T	NM_005502.4	NP_005493.2:p.(Thr298Ile)	NC_000009.11:g.107602721G>A	VUS	1 lab	00b666ef6f
16:16251632 ABCC6 G>T	16	16251632	16251632	G	T	ABCC6	c.3770C>A	NM_001171.6	NP_001162.5:p.(Pro1257His)	NC_000016.9:g.16251632G>T	VUS	1 lab	00bf23efb1
7:72700413 MISSING Ref too long to show for this DEL>C	7	72700413	74142328	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72700415_74142328del	(Likely) pathogenic	1 lab	00c046e12e
18:58038934 MC4R G>A	18	58038934	58038934	G	A	MC4R	c.649C>T	NM_005912.3	NP_005903.2:p.(Leu217=)	NC_000018.9:g.58038934G>A	(Likely) benign	1 lab	00c3488b20
12:50501249 GPD1 T>C	12	50501249	50501249	T	C	GPD1	c.613-101T>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501249T>C	(Likely) benign	1 lab	00ca138354
17:42426555 GRN T>A	17	42426555	42426555	T	A	GRN	c.23T>A	NM_002087.4	NP_002078.1:p.(Val8Glu)	NC_000017.10:g.42426555T>A	(Likely) pathogenic	1 lab	00cda72059
7:117602057 MISSING Ref too long to show for this DEL>A	7	117602057	118205346	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.117602058_118205346del	(Likely) pathogenic	1 lab	00d02d4302
6:72970414 RIMS1 T>A	6	72970414	72970414	T	A	RIMS1	c.3060T>A	NM_014989.6	NP_055804.2:p.(Leu1020=)	NC_000006.11:g.72970414T>A	(Likely) benign	1 lab	00d0d94a79
10:30602526 MTPAP A>G	10	30602526	30602526	A	G	MTPAP	c.*12T>C	NM_018109.4	NP_060579.3:p.?	NC_000010.10:g.30602526A>G	(Likely) benign	1 lab	00d6601f57
15:33381045 FMN1 C>T	15	33381045	33381045	C	T	FMN1	c.1998G>A	NM_001277313.2	NP_001264242.1:p.(Glu666=)	NC_000015.9:g.33381045C>T	(Likely) benign	1 lab	00dcd33b3f
8:87679313 CNGB3 C>T	8	87679313	87679313	C	T	CNGB3	c.692G>A	NM_019098.5	NP_061971.3:p.(Trp231Ter)	NC_000008.10:g.87679313C>T	(Likely) pathogenic	1 lab	00dd038fcc
2:179527791 TTN A>G	2	179527791	179527791	A	G	TTN	c.36701-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527791A>G	(Likely) benign	1 lab	00e9cd44ff
2:15557837 NBAS C>A	2	15557837	15557837	C	A	NBAS	c.2578-1G>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15557837C>A	(Likely) pathogenic	1 lab	00ea9ae277
2:21233350 APOB A>G	2	21233350	21233350	A	G	APOB	c.6390T>C	NM_000384.3	NP_000375.3:p.(Asn2130=)	NC_000002.11:g.21233350A>G	(Likely) benign	1 lab	00eaf24964
10:104161032 NFKB2 G>A	10	104161032	104161032	G	A	NFKB2	c.2167G>A	NM_001288724.1	NP_001275653.1:p.(Asp723Asn)	NC_000010.10:g.104161032G>A	(Likely) benign	1 lab	00fa55182f
1:218610684 TGFB2 G>T	1	218610684	218610684	G	T	TGFB2	c.1017-1G>T	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218610684G>T	(Likely) pathogenic	1 lab	00fc834026
1:214557312 PTPN14 G>A	1	214557312	214557312	G	A	PTPN14	c.1886C>T	NM_005401.5	NP_005392.2:p.(Thr629Met)	NC_000001.10:g.214557312G>A	(Likely) benign	1 lab	00ff738e35
2:179431091 TTN G>C	2	179431091	179431091	G	C	TTN	c.79768C>G	NM_001267550.2	NP_001254479.2:p.(Pro26590Ala)	NC_000002.11:g.179431091G>C	VUS	1 lab	0105f4d9be
5:133948372 SAR1B G>T	5	133948372	133948372	G	T	SAR1B	c.244+9C>A	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948372G>T	(Likely) benign	1 lab	010ab90c24
1:23191502 EPHB2 C>T	1	23191502	23191502	C	T	EPHB2	c.1100C>T	NM_017449.5	NP_059145.2:p.(Ser367Leu)	NC_000001.10:g.23191502C>T	VUS	1 lab	010d8fd305
1:201334330 TNNT2 T>C	1	201334330	201334330	T	C	TNNT2	c.370A>G	NM_001276347.2	NP_001263276.1:p.(Lys124Glu)	NC_000001.10:g.201334330T>C	VUS	1 lab	010e55a832
17:40101477 ODAD4 G>A	17	40101477	40101477	G	A	ODAD4	c.1146G>A	NM_031421.5	NP_113609.1:p.(Thr382=)	NC_000017.10:g.40101477G>A	(Likely) pathogenic	1 lab	011257c406
11:44129724 EXT2 T>A	11	44129724	44129724	T	A	EXT2	c.561T>A	NM_000401.3	NP_000392.3:p.(Val187=)	NC_000011.9:g.44129724T>A	(Likely) benign	1 lab	0112ced2fe
16:1412272 GNPTG C>T	16	1412272	1412272	C	T	GNPTG	c.477C>T	NM_032520.5	NP_115909.1:p.(Tyr159=)	NC_000016.9:g.1412272C>T	(Likely) benign	1 lab	0113806cc4
1:156846231 NTRK1 C>T	1	156846231	156846231	C	T	NTRK1	c.1672C>T	NM_002529.4	NP_002520.2:p.(Gln558Ter)	NC_000001.10:g.156846231C>T	(Likely) pathogenic	1 lab	0114476edf
16:28880719 SH2B1 T>A	16	28880719	28880719	T	A	SH2B1	c.1309+15T>A	NM_015503.3	NP_056318.2:p.?	NC_000016.9:g.28880719T>A	(Likely) benign	1 lab	0116925680
X:147743437 AFF2 A>C	X	147743437	147743437	A	C	AFF2	c.189A>C	NM_002025.4	NP_002016.2:p.(Lys63Asn)	NC_000023.10:g.147743437A>C	VUS	1 lab	011a1a8d5a
10:95405808 PDE6C C>T	10	95405808	95405808	C	T	PDE6C	c.1935+4C>T	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95405808C>T	(Likely) benign	1 lab	01263796f3
9:130579457 ENG C>T	9	130579457	130579457	C	T	ENG	c.1712G>A	NM_000118.3	NP_000109.1:p.(Arg571His)	NC_000009.11:g.130579457C>T	(Likely) benign	1 lab	0132b12d1f
3:38627153 SCN5A G>GGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTG	(Likely) benign	1 lab	01341ed970
6:79735707 PHIP G>A	6	79735707	79735707	G	A	PHIP	c.775C>T	NM_017934.7	NP_060404.4:p.(Pro259Ser)	NC_000006.11:g.79735707G>A	VUS	1 lab	0136d02e33
1:236900597 ACTN2 G>GTATTTATATATATA	1	236900597	236900598	G	GTATTTATATATATA	ACTN2	c.876+83_876+84insTATTTATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATTTATATATATA	(Likely) benign	1 lab	013836fe50
17:6328809 AIPL1 G>A	17	6328809	6328809	G	A	AIPL1	c.1126C>T	NM_014336.5	NP_055151.3:p.(Pro376Ser)	NC_000017.10:g.6328809G>A	(Likely) benign	1 lab	013a07823e
10:89720633 PTEN CTT>C	10	89720633	89720648	CTT	C	PTEN	c.802-4_802-3del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720647_89720648del	(Likely) benign	1 lab	013d001022
19:11221440 LDLR ATGCGAAGG>A	19	11221440	11221450	ATGCGAAGG	A	LDLR	c.1056_1060+3del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221443_11221450del	(Likely) pathogenic	1 lab	013dacc332
2:227661248 IRS1 G>A	2	227661248	227661248	G	A	IRS1	c.2207C>T	NM_005544.3	NP_005535.1:p.(Ser736Leu)	NC_000002.11:g.227661248G>A	VUS	1 lab	013e24109b
2:15519827 NBAS G>A	2	15519827	15519827	G	A	NBAS	c.3489C>T	NM_015909.4	NP_056993.2:p.(Tyr1163=)	NC_000002.11:g.15519827G>A	(Likely) benign	1 lab	0146fd0a7d
3:38620970 SCN5A A>G	3	38620970	38620970	A	G	SCN5A	c.3245T>C	NM_198056.3	NP_932173.1:p.(Val1082Ala)	NC_000003.11:g.38620970A>G	VUS	1 lab	014de78214
19:40904446 PRX G>A	19	40904446	40904446	G	A	PRX	c.*18C>T	NM_020956.2	NP_066007.1:p.?	NC_000019.9:g.40904446G>A	(Likely) benign	1 lab	014f36b7b2
3:38607892 SCN5A A>G	3	38607892	38607892	A	G	SCN5A	c.3840+8T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38607892A>G	(Likely) benign	1 lab	015cb396c3
7:72718276 MISSING Ref too long to show for this DEL>G	7	72718276	74141784	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72718277_74141784del	(Likely) pathogenic	1 lab	015d6dea2d
X:38163917 RPGR C>G	X	38163917	38163917	C	G	RPGR	c.905G>C	NM_001034853.2	NP_001030025.1:p.(Cys302Ser)	NC_000023.10:g.38163917C>G	(Likely) benign	1 lab	01636ed2d6
X:31286292 DMD G>Alt too long to show for this DUP	X	31286292	31295344	G	Alt too long to show for this DUP	DMD	c.9225-16210_9225-7160dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31286294_31295344dup	VUS	1 lab	0164ef89c4
3:189690823 P3H2 A>AC	3	189690823	189690824	A	AC	P3H2	c.1549-11_1549-10insG	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189690823_189690824insC	(Likely) benign	1 lab	016528bfaa
11:116702000 APOC3 CT>C	11	116702000	116702003	CT	C	APOC3	c.179+391del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702003del	(Likely) benign	1 lab	01685f6dbd
4:121737624 PRDM5 C>T	4	121737624	121737624	C	T	PRDM5	c.849G>A	NM_018699.4	NP_061169.2:p.(Gln283=)	NC_000004.11:g.121737624C>T	(Likely) benign	1 lab	016c4c3037
22:50307128 ALG12 G>C	22	50307128	50307128	G	C	ALG12	c.200C>G	NM_024105.4	NP_077010.1:p.(Thr67Arg)	NC_000022.10:g.50307128G>C	(Likely) pathogenic	1 lab	016cff0458
2:179523751 TTN C>T	2	179523751	179523751	C	T	TTN	c.37434G>A	NM_001267550.2	NP_001254479.2:p.(Pro12478=)	NC_000002.11:g.179523751C>T	VUS	1 lab	016d71a1f5
8:144295759 GPIHBP1 G>A	8	144295759	144295759	G	A	GPIHBP1	c.115G>A	NM_178172.6	NP_835466.2:p.(Asp39Asn)	NC_000008.10:g.144295759G>A	VUS	1 lab	016e71c638
19:11200246 LDLR TTGCGC>T	19	11200246	11200253	TTGCGC	T	LDLR	c.25_29del	NM_000527.5	NP_000518.1:p.(Arg9AspfsTer41)	NC_000019.9:g.11200249_11200253del	(Likely) pathogenic	1 lab	017a36fbaf
2:202626559 ALS2 G>A	2	202626559	202626559	G	A	ALS2	c.176-18C>T	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202626559G>A	(Likely) benign	1 lab	017a907ebc
10:75758151 VCL G>A	10	75758151	75758151	G	A	VCL	c.168+18G>A	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75758151G>A	(Likely) benign	1 lab	017e71180c
1:7724930 CAMTA1 G>A	1	7724930	7724930	G	A	CAMTA1	c.2323G>A	NM_015215.4	NP_056030.1:p.(Asp775Asn)	NC_000001.10:g.7724930G>A	VUS	1 lab	0185e133f4
9:107584781 ABCA1 T>C	9	107584781	107584781	T	C	ABCA1	c.2824A>G	NM_005502.4	NP_005493.2:p.(Thr942Ala)	NC_000009.11:g.107584781T>C	(Likely) pathogenic	1 lab	0187f45c2c
4:72400077 SLC4A4 T>C	4	72400077	72400077	T	C	SLC4A4	c.2414T>C	NM_001098484.3	NP_001091954.1:p.(Ile805Thr)	NC_000004.11:g.72400077T>C	(Likely) pathogenic	1 lab	018daeaa95
10:90697942 ACTA2 A>G	10	90697942	90697942	A	G	ACTA2	c.866T>C	NM_001141945.2	NP_001135417.1:p.(Ile289Thr)	NC_000010.10:g.90697942A>G	VUS	1 lab	018eec5189
2:135392725 MISSING Ref too long to show for this DEL>T	2	135392725	135494837	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.135392728_135494837del	VUS	1 lab	019404b355
1:63070537 ANGPTL3 AGTTAATGTG>A	1	63070537	63070548	AGTTAATGTG	A	ANGPTL3	c.*52_*60del	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63070540_63070548del	(Likely) benign	1 lab	01969c682c
2:44052174 ABCG5 C>CGTA	2	44052174	44052179	C	CGTA	ABCG5	c.775-20_775-18dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44052177_44052179dup	(Likely) benign	1 lab	0196ad1585
1:25890207 LDLRAP1 C>T	1	25890207	25890207	C	T	LDLRAP1	c.672C>T	NM_015627.3	NP_056442.2:p.(Ser224=)	NC_000001.10:g.25890207C>T	(Likely) benign	1 lab	0199617aa5
1:197390405 CRB1 G>A	1	197390405	197390405	G	A	CRB1	c.1240G>A	NM_001257965.2	NP_001244894.1:p.(Ala414Thr)	NC_000001.10:g.197390405G>A	VUS	1 lab	019bee7555
18:34092404 FHOD3 G>A	18	34092404	34092404	G	A	FHOD3	c.409G>A	NM_001281740.3	NP_001268669.1:p.(Asp137Asn)	NC_000018.9:g.34092404G>A	VUS	1 lab	019d1928e0
10:90703465 ACTA2 C>T	10	90703465	90703465	C	T	ACTA2	c.369+89G>A	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90703465C>T	(Likely) benign	1 lab	019fe9ba33
17:6387521 PITPNM3 C>T	17	6387521	6387521	C	T	PITPNM3	c.351+15G>A	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6387521C>T	(Likely) benign	1 lab	01a58c1cc4
2:179666982 TTN C>T	2	179666982	179666982	C	T	TTN	c.178G>A	NM_133378.4	NP_596869.4:p.(Asp60Asn)	NC_000002.11:g.179666982C>T	VUS	1 lab	01a5cafc29
3:78708850 ROBO1 C>T	3	78708850	78708850	C	T	ROBO1	c.2320G>A	NM_133631.4	NP_598334.2:p.(Val774Ile)	NC_000003.11:g.78708850C>T	VUS	1 lab	01a7338a68
1:20976940 PINK1 G>A	1	20976940	20976940	G	A	PINK1	c.1502G>A	NM_032409.3	NP_115785.1:p.(Arg501Gln)	NC_000001.10:g.20976940G>A	(Likely) benign	1 lab	01aee34235
19:3643261 PIP5K1C C>T	19	3643261	3643261	C	T	PIP5K1C	c.1629G>A	NM_012398.3	NP_036530.1:p.(Thr543=)	NC_000019.9:g.3643261C>T	(Likely) benign	1 lab	01b3a74541
14:23865569 MYH6 G>A	14	23865569	23865569	G	A	MYH6	c.2353C>T	NM_002471.4	NP_002462.2:p.(Arg785Cys)	NC_000014.8:g.23865569G>A	VUS	1 lab	01b3d17c37
5:176696689 NSD1 T>C	5	176696689	176696689	T	C	NSD1	c.5390T>C	NM_022455.5	NP_071900.2:p.(Leu1797Pro)	NC_000005.9:g.176696689T>C	(Likely) pathogenic	1 lab	01b587db2a
3:38753671 SCN10A T>C	3	38753671	38753671	T	C	SCN10A	c.4070A>G	NM_006514.4	NP_006505.4:p.(Tyr1357Cys)	NC_000003.11:g.38753671T>C	VUS	1 lab	01b7118e97
1:33263369 YARS1 C>T	1	33263369	33263369	C	T	YARS1	c.586G>A	NM_003680.4	NP_003671.1:p.(Glu196Lys)	NC_000001.10:g.33263369C>T	(Likely) pathogenic	1 lab	01b939ee72
16:84479938 MISSING Ref too long to show for this DEL>G	16	84479938	84537407	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.84479940_84537407del	VUS	1 lab	01b9b02a12
7:151483611 PRKAG2 G>A	7	151483611	151483611	G	A	PRKAG2	c.131C>T	NM_016203.4	NP_057287.2:p.(Ala44Val)	NC_000007.13:g.151483611G>A	VUS	1 lab	01bf879463
6:56394908 DST G>A	6	56394908	56394908	G	A	DST	c.10775C>T	NM_001144769.5	NP_001138241.1:p.(Ser3592Leu)	NC_000006.11:g.56394908G>A	VUS	1 lab	01c4395cd9
7:15775094 MISSING A>Alt too long to show for this DUP	7	15775094	16490581	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.15775096_16490581dup	VUS	1 lab	01c4be2e97
1:236903121 ACTN2 T>C	1	236903121	236903121	T	C	ACTN2	c.1107+289T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236903121T>C	(Likely) benign	1 lab	01c84919b0
16:15826112 MYH11 G>A	16	15826112	15826112	G	A	MYH11	c.3651+309C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15826112G>A	(Likely) benign	1 lab	01cde06567
12:124337772 DNAH10 C>T	12	124337772	124337772	C	T	DNAH10	c.5957C>T	NM_207437.3	NP_997320.2:p.(Thr1986Met)	NC_000012.11:g.124337772C>T	(Likely) benign	1 lab	01d45d7a82
2:1507747 TPO A>AC	2	1507747	1507754	A	AC	TPO	c.2421dup	NM_001206744.2	NP_001193673.1:p.(Cys808LeufsTer72)	NC_000002.11:g.1507754dup	(Likely) pathogenic	1 lab	01d7b4f8f0
9:107623750 ABCA1 T>G	9	107623750	107623750	T	G	ABCA1	c.543+210A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623750T>G	(Likely) benign	1 lab	01dd6875cb
5:125930870 ALDH7A1 C>A	5	125930870	125930870	C	A	ALDH7A1	c.21G>T	NM_001182.5	NP_001173.2:p.(Ala7=)	NC_000005.9:g.125930870C>A	(Likely) benign	1 lab	01e049e02d
2:43793963 THADA TA>T	2	43793963	43793979	TA	T	THADA	c.2188-4del	NM_001083953.2	NP_001077422.1:p.?	NC_000002.11:g.43793979del	(Likely) benign	1 lab	01e524fd4a
22:50893189 SBF1 G>A	22	50893189	50893189	G	A	SBF1	c.4813-18C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50893189G>A	(Likely) benign	1 lab	01f0a2ab24
11:68131277 LRP5 T>C	11	68131277	68131277	T	C	LRP5	c.749T>C	NM_002335.4	NP_002326.2:p.(Leu250Pro)	NC_000011.9:g.68131277T>C	VUS	1 lab	01f4de79a2
10:16526554 PTER A>G	10	16526554	16526554	A	G	PTER	c.171A>G	NM_030664.5	NP_109589.2:p.(Leu57=)	NC_000010.10:g.16526554A>G	(Likely) benign	1 lab	01f6f66d7f
X:107976470 IRS4 G>A	X	107976470	107976470	G	A	IRS4	c.3105C>T	NM_003604.2	NP_003595.1:p.(Ala1035=)	NC_000023.10:g.107976470G>A	(Likely) benign	1 lab	01f8ee119d
7:55240546 EGFR A>G	7	55240546	55240546	A	G	EGFR	c.1920-130A>G	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55240546A>G	(Likely) benign	1 lab	01f98171b1
17:80415980 MISSING Ref too long to show for this DEL>A	17	80415980	80461075	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.80415982_80461075del	VUS	1 lab	01fb88efba
11:1780858 CTSD G>A	11	1780858	1780858	G	A	CTSD	c.240C>T	NM_001909.5	NP_001900.1:p.(Tyr80=)	NC_000011.9:g.1780858G>A	(Likely) benign	1 lab	0204e49f5f
2:179453650 TTN A>G	2	179453650	179453650	A	G	TTN	c.62802T>C	NM_001267550.2	NP_001254479.2:p.(Tyr20934=)	NC_000002.11:g.179453650A>G	(Likely) benign	1 lab	020852a910
1:55509702 PCSK9 G>A	1	55509702	55509702	G	A	PCSK9	c.394G>A	NM_174936.4	NP_777596.2:p.(Glu132Lys)	NC_000001.10:g.55509702G>A	VUS	1 lab	02094a02fa
19:16593377 CALR3 CT>C	19	16593377	16593378	CT	C	CALR3	c.801del	NM_145046.5	NP_659483.2:p.(Glu268LysfsTer13)	NC_000019.9:g.16593378del	VUS	1 lab	020c2db2b0
9:107563687 ABCA1 G>A	9	107563687	107563687	G	A	ABCA1	c.4698+648C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563687G>A	(Likely) benign	1 lab	0210cd24e5
11:116707816 APOA1 C>A	11	116707816	116707816	C	A	APOA1	c.101G>T	NM_001318017.2	NP_001304946.1:p.(Arg34Leu)	NC_000011.9:g.116707816C>A	VUS	1 lab	0211918e5e
20:56115314 MISSING A>Alt too long to show for this DUP	20	56115314	56259116	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.56115315_56259116dup	VUS	1 lab	0214a81bbe
9:107624352 ABCA1 CACACAT>C	9	107624352	107624363	CACACAT	C	ABCA1	c.422-277_422-272del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624358_107624363del	(Likely) benign	1 lab	021b0a66cd
1:5923991 NPHP4 C>T	1	5923991	5923991	C	T	NPHP4	c.4099G>A	NM_015102.5	NP_055917.1:p.(Asp1367Asn)	NC_000001.10:g.5923991C>T	(Likely) benign	1 lab	022343d606
X:9728842 GPR143 C>T	X	9728842	9728842	C	T	GPR143	c.275G>A	NM_000273.3	NP_000264.2:p.(Trp92Ter)	NC_000023.10:g.9728842C>T	(Likely) pathogenic	1 lab	02273dfcd0
1:155648950 YY1AP1 C>T	1	155648950	155648950	C	T	YY1AP1	c.125+250G>A	NM_139119.3	NP_620830.1:p.?	NC_000001.10:g.155648950C>T	(Likely) benign	1 lab	02294b53fd
9:139399799 NOTCH1 C>G	9	139399799	139399799	C	G	NOTCH1				NC_000009.11:g.139399799C>G	(Likely) pathogenic	1 lab	93136f39f7
9:135205594 SETX G>A	9	135205594	135205594	G	A	SETX	c.1391C>T	NM_015046.7	NP_055861.3:p.(Ser464Leu)	NC_000009.11:g.135205594G>A	VUS	1 lab	02297f5721
9:95482770 BICD2 G>A	9	95482770	95482770	G	A	BICD2	c.874C>T	NM_001003800.2	NP_001003800.1:p.(Pro292Ser)	NC_000009.11:g.95482770G>A	VUS	1 lab	022b9bf184
14:64556271 SYNE2 T>C	14	64556271	64556271	T	C	SYNE2	c.11671-21T>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64556271T>C	(Likely) benign	1 lab	044a903659
2:179416454 TTN T>G	2	179416454	179416454	T	G	TTN	c.91173A>C	NM_001267550.2	NP_001254479.2:p.(Glu30391Asp)	NC_000002.11:g.179416454T>G	(Likely) benign	1 lab	022df5a9f0
15:58830592 LIPC C>T	15	58830592	58830592	C	T	LIPC	c.149C>T	NM_000236.3	NP_000227.2:p.(Thr50Ile)	NC_000015.9:g.58830592C>T	VUS	1 lab	023009cd90
10:9330973 MISSING Ref too long to show for this DEL>C	10	9330973	9392503	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.9330974_9392503del	VUS	1 lab	02327fcd22
5:140070801 HARS1 A>C	5	140070801	140070801	A	C	HARS1	c.89T>G	NM_001258041.3	NP_001244970.1:p.(Leu30Arg)	NC_000005.9:g.140070801A>C	VUS	1 lab	023a549be2
19:45452263 APOC2 C>T	19	45452263	45452263	C	T	APOC2	c.215+146C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452263C>T	(Likely) benign	1 lab	023c6a9696
2:179476584 TTN C>T	2	179476584	179476584	C	T	TTN	c.50452G>A	NM_001267550.2	NP_001254479.2:p.(Glu16818Lys)	NC_000002.11:g.179476584C>T	(Likely) benign	1 lab	0240024969
8:144297334 GPIHBP1 G>A	8	144297334	144297334	G	A	GPIHBP1	c.496G>A	NM_178172.6	NP_835466.2:p.(Ala166Thr)	NC_000008.10:g.144297334G>A	(Likely) benign	1 lab	0242d03f02
7:94045722 COL1A2 A>G	7	94045722	94045722	A	G	COL1A2	c.1770A>G	NM_000089.4	NP_000080.2:p.(Glu590=)	NC_000007.13:g.94045722A>G	(Likely) benign	1 lab	0247046b28
16:23625354 PALB2 A>C	16	23625354	23625354	A	C	PALB2	c.3172T>G	NM_024675.4	NP_078951.2:p.(Ser1058Ala)	NC_000016.9:g.23625354A>C	VUS	1 lab	0249e28cf7
11:1017012 MUC6 A>G	11	1017012	1017012	A	G	MUC6	c.5789T>C	NM_005961.3	NP_005952.2:p.(Val1930Ala)	NC_000011.9:g.1017012A>G	(Likely) benign	1 lab	024cbb2e18
3:71830666 PROK2 G>A	3	71830666	71830666	G	A	PROK2	c.174C>T	NM_001126128.2	NP_001119600.1:p.(Cys58=)	NC_000003.11:g.71830666G>A	(Likely) benign	1 lab	0275c725f9
15:90176239 KIF7 T>TAGGGAGGGAGGGAGGGAGGG	15	90176239	90176257	T	TAGGGAGGGAGGGAGGGAGGG	KIF7	c.2719-13_2719-12insCCCTCCCTCCCTCCCTCCCT	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90176256_90176257insGGGAGGGAGGGAGGGAGGGA	(Likely) benign	1 lab	02520e97dc
1:12057372 MFN2 C>T	1	12057372	12057372	C	T	MFN2	c.493C>T	NM_014874.4	NP_055689.1:p.(His165Tyr)	NC_000001.10:g.12057372C>T	(Likely) pathogenic	1 lab	0252984ff0
22:28146983 MN1 G>A	22	28146983	28146983	G	A	MN1	c.3883C>T	NM_002430.3	NP_002421.3:p.(Arg1295Ter)	NC_000022.10:g.28146983G>A	(Likely) pathogenic	1 lab	0254686908
22:46787697 CELSR1 A>G	22	46787697	46787697	A	G	CELSR1	c.5981T>C	NM_001378328.1	NP_001365257.1:p.(Leu1994Pro)	NC_000022.10:g.46787697A>G	(Likely) benign	1 lab	025797a2b5
4:367267 ZNF141 T>C	4	367267	367267	T	C	ZNF141	c.1041T>C	NM_003441.4	NP_003432.1:p.(Ala347=)	NC_000004.11:g.367267T>C	(Likely) benign	1 lab	025e368819
1:237604772 RYR2 A>C	1	237604772	237604772	A	C	RYR2	c.1159A>C	NM_001035.3	NP_001026.2:p.(Ile387Leu)	NC_000001.10:g.237604772A>C	VUS	1 lab	0261da39d0
2:21228640 APOB C>T	2	21228640	21228640	C	T	APOB	c.11100G>A	NM_000384.3	NP_000375.3:p.(Gln3700=)	NC_000002.11:g.21228640C>T	(Likely) benign	1 lab	02622133d7
6:161010354 LPA C>A	6	161010354	161010354	C	A	LPA	c.3947+231G>T	NM_005577.4	NP_005568.2:p.?	NC_000006.11:g.161010354C>A	(Likely) benign	1 lab	0266e0ef49
15:48787324 FBN1 T>C	15	48787324	48787324	T	C	FBN1	c.2673A>G	NM_000138.5	NP_000129.3:p.(Gln891=)	NC_000015.9:g.48787324T>C	(Likely) pathogenic	1 lab	0268f5015b
1:186050496 HMCN1 T>C	1	186050496	186050496	T	C	HMCN1	c.8757T>C	NM_031935.3	NP_114141.2:p.(His2919=)	NC_000001.10:g.186050496T>C	(Likely) benign	1 lab	02714b02b8
1:116268178 CASQ2 G>GAAAAAAAAAAAAAAAAAAAAA	1	116268178	116268201	G	GAAAAAAAAAAAAAAAAAAAAA	CASQ2	c.738-25_738-5dup	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268181_116268201dup	(Likely) benign	1 lab	0276e944f9
17:41244278 BRCA1 T>A	17	41244278	41244278	T	A	BRCA1	c.3270A>T	NM_007294.4	NP_009225.1:p.(Gln1090His)	NC_000017.10:g.41244278T>A	(Likely) benign	1 lab	027a8f8911
22:46806275 CELSR1 GC>G	22	46806275	46806278	GC	G	CELSR1	c.4933+19del	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46806278del	(Likely) benign	1 lab	027af00833
2:179407229 TTN G>A	2	179407229	179407229	G	A	TTN	c.97254C>T	NM_001267550.2	NP_001254479.2:p.(Thr32418=)	NC_000002.11:g.179407229G>A	(Likely) benign	1 lab	027e6d215e
11:62158576 MISSING G>Alt too long to show for this DUP	11	62158576	62190525	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.62158577_62190525dup	VUS	1 lab	0286a27906
7:81964578 CACNA2D1 GA>G	7	81964578	81964588	GA	G	CACNA2D1	c.178-12del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81964588del	(Likely) benign	1 lab	0286e07b95
7:91694630 AKAP9 A>AG	7	91694630	91694631	A	AG	AKAP9	c.6063_6064insG	NM_005751.5	NP_005742.4:p.(Gln2022AlafsTer15)	NC_000007.13:g.91694630_91694631insG	VUS	1 lab	02885d18e0
11:101306566 MISSING A>Alt too long to show for this DUP	11	101306566	101394885	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.101306567_101394885dup	VUS	1 lab	028af85067
X:13778438 OFD1 C>A	X	13778438	13778438	C	A	OFD1	c.1859C>A	NM_003611.3	NP_003602.1:p.(Ser620Tyr)	NC_000023.10:g.13778438C>A	(Likely) benign	1 lab	028c00ed30
2:21266768 APOB AGCGCAG>A	2	21266768	21266776	AGCGCAG	A	APOB	c.44_49del	NM_000384.3	NP_000375.3:p.(Pro15_Ala16del)	NC_000002.11:g.21266771_21266776del	VUS	1 lab	0291e3f244
6:32191658 NOTCH4 T>TAGCAGCAGC	6	32191658	32191690	T	TAGCAGCAGC	NOTCH4	c.39_47dup	NM_004557.4	NP_004548.3:p.(Leu14_Leu16dup)	NC_000006.11:g.32191682_32191690dup	(Likely) benign	1 lab	0292993141
2:179667004 TTN G>A	2	179667004	179667004	G	A	TTN	c.156C>T	NM_001267550.2	NP_001254479.2:p.(Pro52=)	NC_000002.11:g.179667004G>A	(Likely) benign	1 lab	0294f05578
13:35770440 NBEA G>A	13	35770440	35770440	G	A	NBEA	c.5366+1G>A	NM_015678.5	NP_056493.3:p.?	NC_000013.10:g.35770440G>A	(Likely) pathogenic	1 lab	02979ffc54
14:23888766 MYH7 C>T	14	23888766	23888766	C	T	MYH7	c.3779G>A	NM_000257.4	NP_000248.2:p.(Arg1260Gln)	NC_000014.8:g.23888766C>T	VUS	1 lab	0299f34ba9
22:29091753 CHEK2 C>T	22	29091753	29091753	C	T	CHEK2	c.1204G>A	NM_007194.4	NP_009125.1:p.(Ala402Thr)	NC_000022.10:g.29091753C>T	VUS	1 lab	029d92d9a3
6:32036157 TNXB A>G	6	32036157	32036157	A	G	TNXB	c.6220+10T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32036157A>G	(Likely) benign	1 lab	029dc9cfb5
6:7556029 DSP G>A	6	7556029	7556029	G	A	DSP	c.249G>A	NM_004415.4	NP_004406.2:p.(Met83Ile)	NC_000006.11:g.7556029G>A	VUS	1 lab	02a19ae658
3:53752710 CACNA1D T>C	3	53752710	53752710	T	C	CACNA1D	c.1480T>C	NM_000720.4	NP_000711.1:p.(Cys494Arg)	NC_000003.11:g.53752710T>C	VUS	1 lab	02a3a7cda1
20:57466734 GNAS CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCG>C	20	57466734	57466780	CCCGCCGCCGCCGCAGCCCGGCCGCGCCCCGCCG	C	GNAS	c.-34_-2del	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466748_57466780del	(Likely) benign	1 lab	02a797fcdf
11:6652401 DCHS1 C>T	11	6652401	6652401	C	T	DCHS1	c.3813G>A	NM_003737.4	NP_003728.1:p.(Gly1271=)	NC_000011.9:g.6652401C>T	(Likely) benign	1 lab	02b7f968fd
17:10318675 MYH8 G>A	17	10318675	10318675	G	A	MYH8	c.675C>T	NM_002472.3	NP_002463.2:p.(Ser225=)	NC_000017.10:g.10318675G>A	(Likely) benign	1 lab	02b9f814d4
9:137697129 COL5A1 G>A	9	137697129	137697129	G	A	COL5A1	c.3258+69G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137697129G>A	(Likely) benign	1 lab	02bc5dfaed
1:7807826 CAMTA1 CA>C	1	7807826	7807827	CA	C	CAMTA1	c.4675del	NM_015215.4	NP_056030.1:p.(Arg1559GlufsTer12)	NC_000001.10:g.7807827del	(Likely) pathogenic	1 lab	02bd95fff8
12:1965398 CACNA2D4 G>A	12	1965398	1965398	G	A	CACNA2D4	c.2009-3C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1965398G>A	(Likely) benign	1 lab	02c294603f
8:30973896 WRN C>G	8	30973896	30973896	C	G	WRN	c.2300C>G	NM_000553.6	NP_000544.2:p.(Thr767Arg)	NC_000008.10:g.30973896C>G	VUS	1 lab	02cd64f7d6
17:48278756 COL1A1 A>C	17	48278756	48278756	A	C	COL1A1	c.103+16T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48278756A>C	(Likely) benign	1 lab	02cd78ae76
6:32017132 TNXB C>T	6	32017132	32017132	C	T	TNXB	c.9666G>A	NM_019105.8	NP_061978.6:p.(Leu3222=)	NC_000006.11:g.32017132C>T	(Likely) benign	1 lab	02d11600f3
12:80936026 MISSING A>G	12	80936026	80936026	A	G	MISSING				NC_000012.11:g.80936026A>G	(Likely) benign	1 lab	9354a15e24
8:42275501 SLC20A2 T>C	8	42275501	42275501	T	C	SLC20A2	c.1795-16A>G	NM_001257180.2	NP_001244109.1:p.?	NC_000008.10:g.42275501T>C	VUS	1 lab	02df6f9384
10:18828669 CACNB2 G>GTT	10	18828669	18828688	G	GTT	CACNB2	c.*34_*35dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18828687_18828688dup	(Likely) benign	1 lab	02e0f94da1
2:21236061 APOB A>G	2	21236061	21236061	A	G	APOB	c.4187T>C	NM_000384.3	NP_000375.3:p.(Val1396Ala)	NC_000002.11:g.21236061A>G	(Likely) benign	1 lab	02e89b01b3
1:156838042 NTRK1 G>A	1	156838042	156838042	G	A	NTRK1	c.574+1G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156838042G>A	(Likely) pathogenic	1 lab	02f4620ee3
18:56940291 RAX T>G	18	56940291	56940291	T	G	RAX	c.148A>C	NM_013435.3	NP_038463.2:p.(Thr50Pro)	NC_000018.9:g.56940291T>G	(Likely) benign	1 lab	02f5034a17
X:12939456 TLR8 T>C	X	12939456	12939456	T	C	TLR8	c.2351T>C	NM_016610.4	NP_057694.2:p.(Met784Thr)	NC_000023.10:g.12939456T>C	VUS	1 lab	02f5eda8d6
12:21358695 SLCO1B1 T>TTTC	12	21358695	21358698	T	TTTC	SLCO1B1	c.1332-105_1332-104insCTT	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358697_21358698insCTT	(Likely) benign	1 lab	02f96d3528
9:12694018 TYRP1 T>A	9	12694018	12694018	T	A	TYRP1	c.22T>A	NM_000550.3	NP_000541.1:p.(Ser8Thr)	NC_000009.11:g.12694018T>A	(Likely) benign	1 lab	02fa88ccb0
7:128486114 FLNC C>T	7	128486114	128486114	C	T	FLNC	c.3861C>T	NM_001458.5	NP_001449.3:p.(His1287=)	NC_000007.13:g.128486114C>T	(Likely) benign	1 lab	02ff4e52a8
2:179595937 TTN A>G	2	179595937	179595937	A	G	TTN	c.17462-7T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595937A>G	(Likely) benign	1 lab	0307ae7852
1:59131171 MYSM1 G>T	1	59131171	59131171	G	T	MYSM1	c.2164C>A	NM_001085487.3	NP_001078956.1:p.(Arg722Ser)	NC_000001.10:g.59131171G>T	VUS	1 lab	030d637dae
2:21230960 APOB C>T	2	21230960	21230960	C	T	APOB	c.8780G>A	NM_000384.3	NP_000375.3:p.(Gly2927Glu)	NC_000002.11:g.21230960C>T	VUS	1 lab	030e486a1e
16:88901850 GALNS T>A	16	88901850	88901850	T	A	GALNS	c.777-90A>T	NM_001323544.2	NP_001310473.1:p.?	NC_000016.9:g.88901850T>A	(Likely) benign	1 lab	030f7a4eb2
2:179489214 TTN A>G	2	179489214	179489214	A	G	TTN	c.44793T>C	NM_001267550.2	NP_001254479.2:p.(Thr14931=)	NC_000002.11:g.179489214A>G	(Likely) benign	1 lab	03186fbd46
2:179516826 TTN CA>C	2	179516826	179516827	CA	C	TTN	c.39291del	NM_001267550.2	NP_001254479.2:p.(Glu13098LysfsTer11)	NC_000002.11:g.179516827del	VUS	1 lab	03196357de
2:179642620 TTN G>A	2	179642620	179642620	G	A	TTN	c.4291C>T	NM_001267550.2	NP_001254479.2:p.(Arg1431Trp)	NC_000002.11:g.179642620G>A	(Likely) benign	1 lab	031a7e02ce
9:130605385 ENG C>T	9	130605385	130605385	C	T	ENG	c.207G>A	NM_000118.3	NP_000109.1:p.(Leu69=)	NC_000009.11:g.130605385C>T	(Likely) benign	1 lab	031ac47ace
2:211320041 LANCL1 G>GAAA	2	211320041	211320053	G	GAAA	LANCL1	c.200-6_200-4dup	NM_006055.3	NP_006046.1:p.?	NC_000002.11:g.211320051_211320053dup	(Likely) benign	1 lab	031d58d6a3
12:30837595 IPO8 A>T	12	30837595	30837595	A	T	IPO8	c.167-204T>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30837595A>T	(Likely) benign	1 lab	031fc7aa0a
19:11233962 LDLR G>T	19	11233962	11233962	G	T	LDLR	c.2253G>T	NM_000527.5	NP_000518.1:p.(Arg751=)	NC_000019.9:g.11233962G>T	(Likely) benign	1 lab	03242b6b5d
10:92678740 ANKRD1 AATAAATAAATAT>A	10	92678740	92678755	AATAAATAAATAT	A	ANKRD1	c.346-23_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678755del	(Likely) benign	1 lab	03247c79e2
10:90987989 LIPA G>C	10	90987989	90987989	G	C	LIPA	c.396C>G	NM_000235.4	NP_000226.2:p.(Leu132=)	NC_000010.10:g.90987989G>C	(Likely) benign	1 lab	0326bb0e5b
2:179595439 TTN T>C	2	179595439	179595439	T	C	TTN	c.17821A>G	NM_001267550.2	NP_001254479.2:p.(Ile5941Val)	NC_000002.11:g.179595439T>C	VUS	1 lab	0327203af1
2:189853134 COL3A1 C>T	2	189853134	189853134	C	T	COL3A1	c.583-182C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853134C>T	(Likely) benign	1 lab	032a8180b0
6:32489943 HLA-DRB5 A>G	6	32489943	32489943	A	G	HLA-DRB5	c.109T>C	NM_002125.4	NP_002116.2:p.(Leu37=)	NC_000006.11:g.32489943A>G	(Likely) benign	1 lab	03310f412e
2:179482609 TTN C>A	2	179482609	179482609	C	A	TTN	c.47469G>T	NM_001267550.2	NP_001254479.2:p.(Val15823=)	NC_000002.11:g.179482609C>A	(Likely) benign	1 lab	0335168f7a
14:75514602 MLH3 T>C	14	75514602	75514602	T	C	MLH3	c.1757A>G	NM_001040108.2	NP_001035197.1:p.(Glu586Gly)	NC_000014.8:g.75514602T>C	VUS	1 lab	0336b9345a
2:212578312 ERBB4 T>C	2	212578312	212578312	T	C	ERBB4	c.945A>G	NM_005235.3	NP_005226.1:p.(Val315=)	NC_000002.11:g.212578312T>C	(Likely) benign	1 lab	0339a24e66
11:68171001 LRP5 C>T	11	68171001	68171001	C	T	LRP5	c.1635C>T	NM_002335.4	NP_002326.2:p.(Leu545=)	NC_000011.9:g.68171001C>T	(Likely) benign	1 lab	033a4f4e65
12:123741552 MTRFR T>C	12	123741552	123741552	T	C	MTRFR	c.475T>C	NM_001194995.1	NP_001181924.1:p.(Trp159Arg)	NC_000012.11:g.123741552T>C	(Likely) benign	1 lab	033c050589
7:55210990 EGFR C>G	7	55210990	55210990	C	G	EGFR	c.241-8C>G	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55210990C>G	(Likely) benign	1 lab	0340fa32c4
20:10653914 JAG1 C>G	20	10653914	10653914	C	G	JAG1	c.81+184G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10653914C>G	(Likely) benign	1 lab	03451688f7
2:21230288 APOB G>C	2	21230288	21230288	G	C	APOB	c.9452C>G	NM_000384.3	NP_000375.3:p.(Ser3151Cys)	NC_000002.11:g.21230288G>C	VUS	1 lab	03491389cb
4:187117196 CYP4V2 A>G	4	187117196	187117196	A	G	CYP4V2	c.367A>G	NM_207352.4	NP_997235.3:p.(Met123Val)	NC_000004.11:g.187117196A>G	VUS	1 lab	034edf3ca2
16:46774049 MYLK3 C>T	16	46774049	46774049	C	T	MYLK3	c.488G>A	NM_182493.3	NP_872299.2:p.(Arg163Gln)	NC_000016.9:g.46774049C>T	(Likely) benign	1 lab	03524a0a48
7:91609809 AKAP9 C>CTTTT	7	91609809	91609832	C	CTTTT	AKAP9	c.351+182_351+185dup	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91609829_91609832dup	(Likely) benign	1 lab	03568c7aae
20:35555605 SAMHD1 G>A	20	35555605	35555605	G	A	SAMHD1	c.676C>T	NM_015474.4	NP_056289.2:p.(Arg226Cys)	NC_000020.10:g.35555605G>A	VUS	1 lab	035dc9697a
6:135811788 AHI1 T>C	6	135811788	135811788	T	C	AHI1	c.108A>G	NM_001350503.2	NP_001337432.1:p.(Lys36=)	NC_000006.11:g.135811788T>C	(Likely) benign	1 lab	03628336aa
6:2215151 MISSING G>Alt too long to show for this DUP	6	2215151	2335372	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.2215152_2335372dup	VUS	1 lab	0366df3293
6:44229560 NFKBIE A>AGATGTACAGCCAGATGG	6	44229560	44229577	A	AGATGTACAGCCAGATGG	NFKBIE	c.477_493dup	NM_004556.3	NP_004547.3:p.(Leu165ProfsTer18)	NC_000006.11:g.44229561_44229577dup	(Likely) pathogenic	1 lab	036757c8f1
12:50501362 GPD1 G>A	12	50501362	50501362	G	A	GPD1	c.625G>A	NM_005276.4	NP_005267.2:p.(Val209Met)	NC_000012.11:g.50501362G>A	VUS	1 lab	036ebe45fb
2:179439996 TTN G>A	2	179439996	179439996	G	A	TTN	c.70863C>T	NM_001267550.2	NP_001254479.2:p.(Pro23621=)	NC_000002.11:g.179439996G>A	(Likely) benign	1 lab	03769f3419
2:179487422 TTN C>T	2	179487422	179487422	C	T	TTN	c.44888G>A	NM_001267550.2	NP_001254479.2:p.(Cys14963Tyr)	NC_000002.11:g.179487422C>T	VUS	1 lab	0379b7783d
1:3103049 PRDM16 G>A	1	3103049	3103049	G	A	PRDM16	c.387+11G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3103049G>A	(Likely) benign	1 lab	037c4f9fe3
12:123183221 MISSING C>Alt too long to show for this DUP	12	123183221	123277492	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.123183222_123277492dup	VUS	1 lab	0381409dee
19:33134037 ANKRD27 C>T	19	33134037	33134037	C	T	ANKRD27	c.774G>A	NM_032139.3	NP_115515.2:p.(Pro258=)	NC_000019.9:g.33134037C>T	(Likely) benign	1 lab	038c7e3b27
10:88993313 NUTM2A G>C	10	88993313	88993313	G	C	NUTM2A	c.1818G>C	NM_001099338.2	NP_001092808.1:p.(Glu606Asp)	NC_000010.10:g.88993313G>C	(Likely) benign	1 lab	038d9bd9af
16:46766268 MYLK3 G>A	16	46766268	46766268	G	A	MYLK3	c.1314C>T	NM_182493.3	NP_872299.2:p.(His438=)	NC_000016.9:g.46766268G>A	(Likely) benign	1 lab	038e12bc61
2:179404697 TTN GA>G	2	179404697	179404704	GA	G	TTN	c.98099-5del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179404704del	(Likely) benign	1 lab	038e8e103f
2:179413048 TTN T>C	2	179413048	179413048	T	C	TTN	c.93305A>G	NM_001267550.2	NP_001254479.2:p.(Tyr31102Cys)	NC_000002.11:g.179413048T>C	VUS	1 lab	0392cedc3d
7:40017971 MISSING G>Alt too long to show for this DUP	7	40017971	40160051	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.40017973_40160051dup	VUS	1 lab	0393c90cf7
9:130263351 LRSAM1 G>A	9	130263351	130263351	G	A	LRSAM1	c.1975G>A	NM_138361.5	NP_612370.3:p.(Val659Met)	NC_000009.11:g.130263351G>A	(Likely) benign	1 lab	039538a7f4
12:125299555 SCARB1 C>G	12	125299555	125299555	C	G	SCARB1	c.390G>C	NM_005505.5	NP_005496.4:p.(Glu130Asp)	NC_000012.11:g.125299555C>G	VUS	1 lab	0396a854ea
12:21355598 SLCO1B1 G>A	12	21355598	21355598	G	A	SLCO1B1	c.1309G>A	NM_006446.5	NP_006437.3:p.(Gly437Arg)	NC_000012.11:g.21355598G>A	(Likely) benign	1 lab	039c31ea41
1:40773387 COL9A2 C>T	1	40773387	40773387	C	T	COL9A2	c.942G>A	NM_001852.4	NP_001843.1:p.(Thr314=)	NC_000001.10:g.40773387C>T	(Likely) benign	1 lab	039dc71145
4:95027108 MISSING A>Alt too long to show for this DUP	4	95027108	95210719	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.95027112_95210719dup	VUS	1 lab	03a3816780
1:237955649 RYR2 CTGTG>C	1	237955649	237955681	CTGTG	C	RYR2	c.13782+55_13782+58del	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237955678_237955681del	(Likely) benign	1 lab	03a51823f0
6:112440489 LAMA4 C>A	6	112440489	112440489	C	A	LAMA4	c.4670G>T	NM_002290.5	NP_002281.3:p.(Ser1557Ile)	NC_000006.11:g.112440489C>A	(Likely) benign	1 lab	03a6bf5636
X:31165455 DMD G>T	X	31165455	31165455	G	T	DMD	c.10734C>A	NM_004006.3	NP_003997.2:p.(Ile3578=)	NC_000023.10:g.31165455G>T	(Likely) benign	1 lab	03acb7d484
3:178928435 PIK3CA A>G	3	178928435	178928435	A	G	PIK3CA	c.1539+82A>G	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178928435A>G	(Likely) benign	1 lab	03b17d5f28
13:103528104 ERCC5 G>A	13	103528104	103528104	G	A	ERCC5	c.3412G>A	NM_000123.4	NP_000114.3:p.(Val1138Met)	NC_000013.10:g.103528104G>A	VUS	1 lab	03b59f77ab
2:179527756 TTN C>G	2	179527756	179527756	C	G	TTN	c.36727G>C	NM_001267550.2	NP_001254479.2:p.(Val12243Leu)	NC_000002.11:g.179527756C>G	VUS	1 lab	03b8dcb9fd
X:53247030 KDM5C T>C	X	53247030	53247030	T	C	KDM5C	c.470A>G	NM_004187.5	NP_004178.2:p.(Tyr157Cys)	NC_000023.10:g.53247030T>C	(Likely) pathogenic	1 lab	03c1661b89
2:179486482 TTN AAAAAC>A	2	179486482	179486491	AAAAAC	A	TTN	c.37379-19_37379-15del	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179486487_179486491del	(Likely) benign	1 lab	03c4a4abb0
16:46763022 MYLK3 G>A	16	46763022	46763022	G	A	MYLK3	c.1686C>T	NM_182493.3	NP_872299.2:p.(Asn562=)	NC_000016.9:g.46763022G>A	(Likely) benign	1 lab	03c4c2f881
19:13226207 TRMT1 C>T	19	13226207	13226207	C	T	TRMT1	c.527G>A	NM_017722.5	NP_060192.1:p.(Gly176Glu)	NC_000019.9:g.13226207C>T	VUS	1 lab	03c69cf782
17:59876609 BRIP1 T>C	17	59876609	59876609	T	C	BRIP1	c.1192A>G	NM_032043.3	NP_114432.2:p.(Ile398Val)	NC_000017.10:g.59876609T>C	VUS	1 lab	03d7c6b035
X:8700168 ANOS1 A>C	X	8700168	8700168	A	C	ANOS1	c.-91T>G	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8700168A>C	(Likely) benign	1 lab	03d7dff574
4:61989206 MISSING C>Alt too long to show for this DUP	4	61989206	62370153	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.61989209_62370153dup	VUS	1 lab	03d868b175
1:161275751 MPZ G>GGC	1	161275751	161275752	G	GGC	MPZ	c.661_662insGC	NM_000530.8	NP_000521.2:p.(Ala221GlyfsTer32)	NC_000001.10:g.161275751_161275752insGC	(Likely) pathogenic	1 lab	03d926a2e5
2:179575501 TTN T>G	2	179575501	179575501	T	G	TTN	c.28323A>C	NM_001267550.2	NP_001254479.2:p.(Gly9441=)	NC_000002.11:g.179575501T>G	(Likely) benign	1 lab	03dab7a0cf
4:113352098 ALPK1 G>A	4	113352098	113352098	G	A	ALPK1	c.1395G>A	NM_025144.4	NP_079420.3:p.(Ser465=)	NC_000004.11:g.113352098G>A	(Likely) benign	1 lab	03e3f25d26
9:139409410 NOTCH1 G>T	9	139409410	139409410	G	T	NOTCH1	c.2015-256C>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139409410G>T	(Likely) benign	1 lab	03e571eeb6
1:74701787 TNNI3K T>A	1	74701787	74701787	T	A	TNNI3K	c.42T>A	NM_015978.3	NP_057062.1:p.(Asp14Glu)	NC_000001.10:g.74701787T>A	VUS	1 lab	03e734ee44
14:50101690 DNAAF2 C>A	14	50101690	50101690	C	A	DNAAF2	c.178G>T	NM_018139.3	NP_060609.2:p.(Glu60Ter)	NC_000014.8:g.50101690C>A	(Likely) pathogenic	1 lab	03e77d44a8
9:133553993 PRDM12 C>T	9	133553993	133553993	C	T	PRDM12	c.648C>T	NM_021619.3	NP_067632.2:p.(Pro216=)	NC_000009.11:g.133553993C>T	(Likely) benign	1 lab	03f07fae12
7:100854185 PLOD3 G>A	7	100854185	100854185	G	A	PLOD3	c.1359-231C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100854185G>A	(Likely) benign	1 lab	03f373dcb2
1:25870295 LDLRAP1 A>AGCCGG	1	25870295	25870311	A	AGCCGG	LDLRAP1	c.88+30_88+34dup	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870307_25870311dup	(Likely) benign	1 lab	03fa165041
20:34064384 CEP250 G>A	20	34064384	34064384	G	A	CEP250	c.1827G>A	NM_007186.6	NP_009117.2:p.(Ala609=)	NC_000020.10:g.34064384G>A	(Likely) benign	1 lab	03fcbd1374
10:100250019 HPSE2 GACACACACAC>G	10	100250019	100250049	GACACACACAC	G	HPSE2	c.1321-76_1321-67del	NM_001166246.1	NP_001159718.1:p.?	NC_000010.10:g.100250040_100250049del	(Likely) benign	1 lab	03fe05fa21
2:25057362 ADCY3 G>A	2	25057362	25057362	G	A	ADCY3	c.2025C>T	NM_001377128.1	NP_001364057.1:p.(Ile675=)	NC_000002.11:g.25057362G>A	(Likely) benign	1 lab	04010d0c30
7:4044319 SDK1 Ref too long to show for this DEL>A	7	4044319	4147177	Ref too long to show for this DEL	A	SDK1	c.2132-6278_3325-3118del	NM_152744.4	NP_689957.3:p.?	NC_000007.13:g.4044320_4147177del	VUS	1 lab	0406f6d8b3
16:75674231 KARS1 C>T	16	75674231	75674231	C	T	KARS1	c.323G>A	NM_001130089.2	NP_001123561.1:p.(Arg108His)	NC_000016.9:g.75674231C>T	(Likely) pathogenic	1 lab	040c530ede
5:32774858 NPR3 C>T	5	32774858	32774858	C	T	NPR3	c.1104C>T	NM_001204375.2	NP_001191304.1:p.(Tyr368=)	NC_000005.9:g.32774858C>T	(Likely) benign	1 lab	04131529b0
11:2790111 KCNQ1 C>G	11	2790111	2790111	C	G	KCNQ1	c.1552C>G	NM_000218.3	NP_000209.2:p.(Arg518Gly)	NC_000011.9:g.2790111C>G	(Likely) pathogenic	1 lab	04190bef90
8:1876631 ARHGEF10 C>T	8	1876631	1876631	C	T	ARHGEF10	c.2736C>T	NM_014629.4	NP_055444.2:p.(Ile912=)	NC_000008.10:g.1876631C>T	(Likely) benign	1 lab	048a06c752
X:70443811 GJB1 C>G	X	70443811	70443811	C	G	GJB1	c.254C>G	NM_000166.6	NP_000157.1:p.(Ser85Cys)	NC_000023.10:g.70443811C>G	(Likely) pathogenic	1 lab	042197c92a
2:179605526 TTN T>G	2	179605526	179605526	T	G	TTN	c.12434A>C	NM_001267550.2	NP_001254479.2:p.(Glu4145Ala)	NC_000002.11:g.179605526T>G	VUS	1 lab	042904d439
X:123224722 STAG2 G>A	X	123224722	123224722	G	A	STAG2	c.3486G>A	NM_001042749.2	NP_001036214.1:p.(Met1162Ile)	NC_000023.10:g.123224722G>A	VUS	1 lab	042fed42d4
19:11230820 LDLR G>T	19	11230820	11230820	G	T	LDLR	c.1898G>T	NM_000527.5	NP_000518.1:p.(Arg633Leu)	NC_000019.9:g.11230820G>T	(Likely) pathogenic	1 lab	0436e07d2c
X:30714805 GK AAAAC>A	X	30714805	30714824	AAAAC	A	GK	c.729+21_729+24del	NM_001205019.2	NP_001191948.1:p.?	NC_000023.10:g.30714821_30714824del	(Likely) benign	1 lab	0438a44380
11:44228529 EXT2 T>C	11	44228529	44228529	T	C	EXT2	c.1761+20T>C	NM_000401.3	NP_000392.3:p.?	NC_000011.9:g.44228529T>C	(Likely) benign	1 lab	0438e54a10
11:116661291 APOA5 G>A	11	116661291	116661291	G	A	APOA5	c.654C>T	NM_052968.5	NP_443200.2:p.(Pro218=)	NC_000011.9:g.116661291G>A	(Likely) benign	1 lab	043939bada
16:89701681 MISSING Ref too long to show for this DEL>C	16	89701681	89737772	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.89701684_89737772del	VUS	1 lab	043baf06e2
19:30193743 C19orf12 C>T	19	30193743	30193743	C	T	C19orf12	c.110G>A	NM_001282931.3	NP_001269860.1:p.(Trp37Ter)	NC_000019.9:g.30193743C>T	(Likely) pathogenic	1 lab	043be7f511
6:31750542 VARS1 T>C	6	31750542	31750542	T	C	VARS1	c.1843A>G	NM_006295.3	NP_006286.1:p.(Met615Val)	NC_000006.11:g.31750542T>C	VUS	1 lab	04490222bc
19:11216084 LDLR G>C	19	11216084	11216084	G	C	LDLR	c.502G>C	NM_000527.5	NP_000518.1:p.(Asp168His)	NC_000019.9:g.11216084G>C	(Likely) pathogenic	1 lab	04493d5cc7
1:45797911 MUTYH GC>G	1	45797911	45797915	GC	G	MUTYH	c.859del	NM_001128425.2	NP_001121897.1:p.(Ala287ProfsTer32)	NC_000001.10:g.45797915del	(Likely) pathogenic	1 lab	04545341d2
19:11216289 LDLR C>A	19	11216289	11216289	C	A	LDLR	c.694+13C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216289C>A	VUS	1 lab	0456841d34
3:119120577 ARHGAP31 G>C	3	119120577	119120577	G	C	ARHGAP31	c.1070-92G>C	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119120577G>C	(Likely) benign	1 lab	045b918a72
10:78647137 KCNMA1 T>C	10	78647137	78647137	T	C	KCNMA1	c.3526A>G	NM_001322830.2	NP_001309759.1:p.(Ser1176Gly)	NC_000010.10:g.78647137T>C	VUS	1 lab	0469a04fc6
8:100874100 VPS13B G>A	8	100874100	100874100	G	A	VPS13B	c.11216G>A	NM_017890.5	NP_060360.3:p.(Trp3739Ter)	NC_000008.10:g.100874100G>A	(Likely) pathogenic	1 lab	046ad33410
4:108816979 SGMS2 C>T	4	108816979	108816979	C	T	SGMS2	c.270C>T	NM_152621.6	NP_689834.1:p.(Leu90=)	NC_000004.11:g.108816979C>T	(Likely) benign	1 lab	046ff2f3ea
5:37238981 CPLANE1 C>T	5	37238981	37238981	C	T	CPLANE1	c.916G>A	NM_023073.4	NP_075561.3:p.(Val306Met)	NC_000005.9:g.37238981C>T	VUS	1 lab	04734b7629
12:118105325 KSR2 G>A	12	118105325	118105325	G	A	KSR2	c.1125C>T	NM_173598.6	NP_775869.4:p.(Phe375=)	NC_000012.11:g.118105325G>A	(Likely) benign	1 lab	04779ff86b
16:1841424 IGFALS C>T	16	1841424	1841424	C	T	IGFALS	c.1109G>A	NM_001146006.2	NP_001139478.1:p.(Arg370His)	NC_000016.9:g.1841424C>T	VUS	1 lab	0478889b04
1:215814066 USH2A G>C	1	215814066	215814066	G	C	USH2A				NC_000001.10:g.215814066G>C	(Likely) pathogenic	1 lab	a44eb75c0a
10:61844405 ANK3 C>T	10	61844405	61844405	C	T	ANK3	c.4029G>A	NM_020987.5	NP_066267.2:p.(Glu1343=)	NC_000010.10:g.61844405C>T	(Likely) benign	1 lab	0479de3203
1:63067519 ANGPTL3 T>C	1	63067519	63067519	T	C	ANGPTL3	c.801T>C	NM_014495.4	NP_055310.1:p.(Ser267=)	NC_000001.10:g.63067519T>C	(Likely) benign	1 lab	047c2f55b9
17:58227390 CA4 C>G	17	58227390	58227390	C	G	CA4	c.-6C>G	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58227390C>G	(Likely) benign	1 lab	047cd7e935
22:36063838 MISSING T>Alt too long to show for this DUP	22	36063838	36119066	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.36063841_36119066dup	VUS	1 lab	0488b5b2cb
5:37120376 CPLANE1 C>T	5	37120376	37120376	C	T	CPLANE1	c.9090G>A	NM_023073.4	NP_075561.3:p.(Pro3030=)	NC_000005.9:g.37120376C>T	(Likely) benign	1 lab	0489afeabd
2:179563643 TTN TAAAA>T	2	179563643	179563658	TAAAA	T	TTN	c.30683-6_30683-3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563655_179563658del	(Likely) benign	1 lab	048aa56eb2
X:66943631 AR T>TGCCCAAGATCCTTTCTGGGAAAGTCAA	X	66943631	66943663	T	TGCCCAAGATCCTTTCTGGGAAAGTCAA	AR	c.2717_2743dup	NM_000044.6	NP_000035.2:p.(Lys906_Pro914dup)	NC_000023.10:g.66943637_66943663dup	VUS	1 lab	0492a28772
19:56358060 MISSING A>Alt too long to show for this DUP	19	56358060	56582815	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.56358062_56582815dup	VUS	1 lab	0496f53f3c
9:134398430 POMT1 G>A	9	134398430	134398430	G	A	POMT1	c.2115G>A	NM_001136113.2	NP_001129585.1:p.(Ser705=)	NC_000009.11:g.134398430G>A	(Likely) benign	1 lab	049eacef83
15:34547452 SLC12A6 T>C	15	34547452	34547452	T	C	SLC12A6	c.849+11A>G	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34547452T>C	(Likely) benign	1 lab	04a4789ccb
7:128485753 FLNC AC>A	7	128485753	128485754	AC	A	FLNC	c.3791-290del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128485754del	(Likely) benign	1 lab	04aa606457
4:74464073 MISSING T>Alt too long to show for this DUP	4	74464073	74517773	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.74464074_74517773dup	VUS	1 lab	04b53b0b06
17:66563739 MISSING A>Alt too long to show for this DUP	17	66563739	66648073	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.66563740_66648073dup	VUS	1 lab	04ba6ad58a
18:55268898 NARS1 G>A	18	55268898	55268898	G	A	NARS1	c.1633C>T	NM_004539.4	NP_004530.1:p.(Arg545Cys)	NC_000018.9:g.55268898G>A	(Likely) pathogenic	1 lab	04bc401a4c
5:37022485 NIPBL G>C	5	37022485	37022485	G	C	NIPBL	c.5567G>C	NM_015384.5	NP_056199.2:p.(Arg1856Thr)	NC_000005.9:g.37022485G>C	(Likely) pathogenic	1 lab	04bfbb2b14
10:112572436 RBM20 C>T	10	112572436	112572436	C	T	RBM20	c.2281C>T	NM_001134363.3	NP_001127835.2:p.(Arg761Trp)	NC_000010.10:g.112572436C>T	VUS	1 lab	04c59cd5f3
11:47367371 MYBPC3 C>A	11	47367371	47367371	C	A	MYBPC3	c.1090+387G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367371C>A	(Likely) benign	1 lab	04cc5f2ce0
1:214557685 PTPN14 C>A	1	214557685	214557685	C	A	PTPN14	c.1513G>T	NM_005401.5	NP_005392.2:p.(Val505Phe)	NC_000001.10:g.214557685C>A	(Likely) benign	1 lab	04cca83c9b
12:40902863 MUC19 G>C	12	40902863	40902863	G	C	MUC19	c.20006G>C	NM_173600.2	NP_775871.2:p.(Arg6669Thr)	NC_000012.11:g.40902863G>C	(Likely) benign	1 lab	04d2d45d07
16:28877758 SH2B1 G>A	16	28877758	28877758	G	A	SH2B1	c.343G>A	NM_015503.3	NP_056318.2:p.(Gly115Arg)	NC_000016.9:g.28877758G>A	VUS	1 lab	04d3118edb
11:5247016 HBB G>C	11	5247016	5247016	G	C	HBB	c.316-60C>G	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247016G>C	(Likely) pathogenic	1 lab	04d38fab1a
16:918924 LMF1 C>T	16	918924	918924	C	T	LMF1	c.1130+20G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918924C>T	(Likely) benign	1 lab	04d43408a3
11:22646800 FANCF G>A	11	22646800	22646800	G	A	FANCF	c.557C>T	NM_022725.4	NP_073562.1:p.(Ala186Val)	NC_000011.9:g.22646800G>A	(Likely) benign	1 lab	04d996a352
2:179441385 TTN C>T	2	179441385	179441385	C	T	TTN	c.61882G>A	NM_133378.4	NP_596869.4:p.(Asp20628Asn)	NC_000002.11:g.179441385C>T	VUS	1 lab	04d9aa770a
9:133364757 ASS1 T>C	9	133364757	133364757	T	C	ASS1	c.876T>C	NM_000050.4	NP_000041.2:p.(His292=)	NC_000009.11:g.133364757T>C	(Likely) benign	1 lab	04da5be016
9:34990615 DNAJB5 G>C	9	34990615	34990615	G	C	DNAJB5	c.-13G>C	NM_001135005.3	NP_001128477.1:p.?	NC_000009.11:g.34990615G>C	(Likely) benign	1 lab	04db256a12
12:971378 WNK1 T>C	12	971378	971378	T	C	WNK1	c.2081T>C	NM_001184985.2	NP_001171914.1:p.(Ile694Thr)	NC_000012.11:g.971378T>C	(Likely) benign	1 lab	04db7a22df
20:18005569 OVOL2 CA>C	20	18005569	18005570	CA	C	OVOL2	c.538del	NM_021220.4	NP_067043.2:p.(Cys180AlafsTer15)	NC_000020.10:g.18005570del	VUS	1 lab	04e0570dc2
6:10764737 MAK G>A	6	10764737	10764737	G	A	MAK	c.1895C>T	NM_001242957.3	NP_001229886.1:p.(Pro632Leu)	NC_000006.11:g.10764737G>A	(Likely) benign	1 lab	04e0f9d9f8
4:126371754 FAT4 C>G	4	126371754	126371754	C	G	FAT4	c.9589C>G	NM_001291303.3	NP_001278232.1:p.(Leu3197Val)	NC_000004.11:g.126371754C>G	(Likely) benign	1 lab	04e15f8f15
22:50900017 SBF1 G>C	22	50900017	50900017	G	C	SBF1	c.2774C>G	NM_002972.4	NP_002963.2:p.(Ala925Gly)	NC_000022.10:g.50900017G>C	VUS	1 lab	04e35263a4
19:40357823 FCGBP Ref too long to show for this DEL>T	19	40357823	40393809	Ref too long to show for this DEL	T	FCGBP	c.7594-899_15553-64del	NM_003890.3	NP_003881.2:p.?	NC_000019.9:g.40357824_40393809del	VUS	1 lab	04ed7e2737
1:246811114 CNST C>T	1	246811114	246811114	C	T	CNST	c.1611C>T	NM_152609.3	NP_689822.2:p.(Asp537=)	NC_000001.10:g.246811114C>T	(Likely) benign	1 lab	04f49317da
X:31164514 DMD T>G	X	31164514	31164514	T	G	DMD	c.10815A>C	NM_004006.3	NP_003997.2:p.(Lys3605Asn)	NC_000023.10:g.31164514T>G	VUS	1 lab	04f58f7d54
11:68700865 IGHMBP2 A>C	11	68700865	68700865	A	C	IGHMBP2	c.1334A>C	NM_002180.3	NP_002171.2:p.(His445Pro)	NC_000011.9:g.68700865A>C	(Likely) pathogenic	1 lab	04f601da6d
17:59763504 BRIP1 C>T	17	59763504	59763504	C	T	BRIP1	c.2598G>A	NM_032043.3	NP_114432.2:p.(Gln866=)	NC_000017.10:g.59763504C>T	(Likely) benign	1 lab	04f95ac11c
2:48033518 MSH6 T>C	2	48033518	48033518	T	C	MSH6	c.3801+21T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033518T>C	(Likely) benign	1 lab	04fb3ec15c
X:70443837 GJB1 C>G	X	70443837	70443837	C	G	GJB1	c.280C>G	NM_000166.6	NP_000157.1:p.(His94Asp)	NC_000023.10:g.70443837C>G	(Likely) pathogenic	1 lab	04fb6a21ad
10:12142247 DHTKD1 C>G	10	12142247	12142247	C	G	DHTKD1	c.1742C>G	NM_018706.7	NP_061176.4:p.(Ser581Cys)	NC_000010.10:g.12142247C>G	VUS	1 lab	04fd9b11af
3:179131325 GNB4 A>C	3	179131325	179131325	A	C	GNB4	c.574T>G	NM_021629.4	NP_067642.1:p.(Leu192Val)	NC_000003.11:g.179131325A>C	(Likely) benign	1 lab	04fdb83d2e
9:101891173 TGFBR1 A>G	9	101891173	101891173	A	G	TGFBR1	c.134A>G	NM_004612.4	NP_004603.1:p.(Asn45Ser)	NC_000009.11:g.101891173A>G	VUS	1 lab	0502e0aa71
X:2640734 MISSING Ref too long to show for this DEL>C	X	2640734	3413405	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.2640735_3413405del	(Likely) pathogenic	1 lab	0504232bed
1:25880547 LDLRAP1 G>A	1	25880547	25880547	G	A	LDLRAP1	c.223G>A	NM_015627.3	NP_056442.2:p.(Val75Met)	NC_000001.10:g.25880547G>A	VUS	1 lab	0506c06eb0
1:156126312 SEMA4A G>C	1	156126312	156126312	G	C	SEMA4A	c.247G>C	NM_022367.4	NP_071762.2:p.(Ala83Pro)	NC_000001.10:g.156126312G>C	VUS	1 lab	05077bb8c0
11:68181094 LRP5 C>T	11	68181094	68181094	C	T	LRP5	c.2504-63C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68181094C>T	(Likely) benign	1 lab	0507d12575
8:41790659 KAT6A T>G	8	41790659	41790659	T	G	KAT6A	c.5079A>C	NM_006766.5	NP_006757.2:p.(Pro1693=)	NC_000008.10:g.41790659T>G	(Likely) benign	1 lab	05091128e4
11:47359462 MYBPC3 T>C	11	47359462	47359462	T	C	MYBPC3	c.2309-117A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359462T>C	(Likely) benign	1 lab	050b47fff8
4:100522478 MTTP C>CT	4	100522478	100522497	C	CT	MTTP	c.1237-267dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522497dup	(Likely) benign	1 lab	050c903260
2:21232900 APOB G>T	2	21232900	21232900	G	T	APOB	c.6840C>A	NM_000384.3	NP_000375.3:p.(His2280Gln)	NC_000002.11:g.21232900G>T	(Likely) benign	1 lab	0514f99fc5
1:11272468 MTOR C>G	1	11272468	11272468	C	G	MTOR	c.3462G>C	NM_004958.4	NP_004949.1:p.(Arg1154=)	NC_000001.10:g.11272468C>G	(Likely) benign	1 lab	0516274b7f
7:81374351 HGF A>G	7	81374351	81374351	A	G	HGF	c.711T>C	NM_000601.6	NP_000592.3:p.(His237=)	NC_000007.13:g.81374351A>G	(Likely) benign	1 lab	0586c66103
X:119243162 RHOXF1 G>A	X	119243162	119243162	G	A	RHOXF1	c.543C>T	NM_139282.3	NP_644811.1:p.(Ile181=)	NC_000023.10:g.119243162G>A	(Likely) benign	1 lab	05172b5502
16:68771351 CDH1 G>C	16	68771351	68771351	G	C	CDH1	c.33G>C	NM_004360.5	NP_004351.1:p.(Leu11=)	NC_000016.9:g.68771351G>C	(Likely) benign	1 lab	0517ffd4c4
2:179441532 TTN C>T	2	179441532	179441532	C	T	TTN	c.69439G>A	NM_001267550.2	NP_001254479.2:p.(Glu23147Lys)	NC_000002.11:g.179441532C>T	VUS	1 lab	051c77fcd2
9:111637230 ELP1 A>C	9	111637230	111637230	A	C	ELP1	c.3876T>G	NM_003640.5	NP_003631.2:p.(Thr1292=)	NC_000009.11:g.111637230A>C	(Likely) benign	1 lab	051c9f7824
7:4885418 MISSING Ref too long to show for this DEL>A	7	4885418	6870943	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.4885420_6870943del	(Likely) pathogenic	1 lab	0520dee7c0
2:24920645 NCOA1 T>C	2	24920645	24920645	T	C	NCOA1	c.927T>C	NM_001362950.1	NP_001349879.1:p.(Tyr309=)	NC_000002.11:g.24920645T>C	(Likely) benign	1 lab	05241c49a1
10:88277350 MISSING G>Alt too long to show for this DUP	10	88277350	88435760	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.88277352_88435760dup	VUS	1 lab	0527cf6129
6:64394405 PHF3 CTTGTGTTACTA>C	6	64394405	64394419	CTTGTGTTACTA	C	PHF3	c.522_532del	NM_001290259.2	NP_001277188.1:p.(Cys174TrpfsTer6)	NC_000006.11:g.64394409_64394419del	VUS	1 lab	052988a948
7:94035589 COL1A2 G>A	7	94035589	94035589	G	A	COL1A2	c.568G>A	NM_000089.4	NP_000080.2:p.(Gly190Arg)	NC_000007.13:g.94035589G>A	(Likely) pathogenic	1 lab	052bbeecfa
2:179611042 TTN CTTGAATCCATAT>C	2	179611042	179611057	CTTGAATCCATAT	C	TTN	c.16073_16084del	NM_133379.5	NP_596870.2:p.(Asn5358_Ser5361del)	NC_000002.11:g.179611046_179611057del	VUS	1 lab	052ceea900
10:73572513 CDH23 C>T	10	73572513	73572513	C	T	CDH23	c.9511-12C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73572513C>T	(Likely) benign	1 lab	053246c640
1:237729890 RYR2 G>A	1	237729890	237729890	G	A	RYR2	c.3238G>A	NM_001035.3	NP_001026.2:p.(Gly1080Ser)	NC_000001.10:g.237729890G>A	VUS	1 lab	05343c923e
11:6651546 DCHS1 C>T	11	6651546	6651546	C	T	DCHS1	c.4479G>A	NM_003737.4	NP_003728.1:p.(Gly1493=)	NC_000011.9:g.6651546C>T	(Likely) benign	1 lab	0534731991
2:152520094 NEB A>G	2	152520094	152520094	A	G	NEB	c.5731T>C	NM_001271208.2	NP_001258137.2:p.(Leu1911=)	NC_000002.11:g.152520094A>G	(Likely) benign	1 lab	0537197ef5
16:943475 LMF1 C>T	16	943475	943475	C	T	LMF1	c.265-403G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943475C>T	(Likely) benign	1 lab	05398135e2
1:25880438 LDLRAP1 G>C	1	25880438	25880438	G	C	LDLRAP1	c.114G>C	NM_015627.3	NP_056442.2:p.(Thr38=)	NC_000001.10:g.25880438G>C	(Likely) benign	1 lab	053b7b6f95
3:38647641 SCN5A T>TA	3	38647641	38647642	T	TA	SCN5A	c.1141-3_1141-2insT	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38647641_38647642insA	(Likely) benign	1 lab	05439d1183
15:79750622 MINAR1 C>G	15	79750622	79750622	C	G	MINAR1	c.2133C>G	NM_015206.3	NP_056021.1:p.(Ser711=)	NC_000015.9:g.79750622C>G	(Likely) benign	1 lab	0545090b23
2:179468882 TTN G>A	2	179468882	179468882	G	A	TTN	c.54532C>T	NM_001267550.2	NP_001254479.2:p.(Arg18178Cys)	NC_000002.11:g.179468882G>A	VUS	1 lab	0548562dcf
8:19813667 LPL T>G	8	19813667	19813667	T	G	LPL	c.1018+73T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813667T>G	(Likely) benign	1 lab	054878c6aa
15:34629024 SLC12A6 C>T	15	34629024	34629024	C	T	SLC12A6	c.-143G>A	NM_133647.2	NP_598408.1:p.?	NC_000015.9:g.34629024C>T	(Likely) benign	1 lab	0549c00bd2
2:179399237 TTN A>G	2	179399237	179399237	A	G	TTN	c.102105T>C	NM_001267550.2	NP_001254479.2:p.(Asp34035=)	NC_000002.11:g.179399237A>G	(Likely) benign	1 lab	054b901691
11:76919573 MYO7A C>T	11	76919573	76919573	C	T	MYO7A	c.5944+11C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76919573C>T	(Likely) benign	1 lab	07176adc1a
19:41925072 BCKDHA C>T	19	41925072	41925072	C	T	BCKDHA	c.517C>T	NM_000709.4	NP_000700.1:p.(Leu173=)	NC_000019.9:g.41925072C>T	(Likely) benign	1 lab	054f29ae6f
10:121429667 BAG3 C>T	10	121429667	121429667	C	T	BAG3	c.485C>T	NM_004281.4	NP_004272.2:p.(Pro162Leu)	NC_000010.10:g.121429667C>T	VUS	1 lab	0550168341
8:19811967 LPL C>T	8	19811967	19811967	C	T	LPL	c.775+103C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811967C>T	(Likely) benign	1 lab	05528607eb
3:172506049 ECT2 C>Alt too long to show for this DUP	3	172506049	172538403	C	Alt too long to show for this DUP	ECT2	c.1907+1691_*376dup	NM_001258315.2	NP_001245244.1:p.?	NC_000003.11:g.172506055_172538403dup	VUS	1 lab	0558d8e23c
20:57466761 GNAS C>CCCG	20	57466761	57466781	C	CCCG	GNAS	c.-3_-1dup	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466779_57466781dup	(Likely) benign	1 lab	055a13b6ff
16:88498299 ZNF469 C>T	16	88498299	88498299	C	T	ZNF469	c.4421C>T	NM_001367624.2	NP_001354553.1:p.(Ala1474Val)	NC_000016.9:g.88498299C>T	(Likely) benign	1 lab	055d11d7a7
12:122247874 SETD1B G>A	12	122247874	122247874	G	A	SETD1B	c.1023G>A	NM_001353345.2	NP_001340274.1:p.(Gly341=)	NC_000012.11:g.122247874G>A	(Likely) benign	1 lab	05606ef350
2:21235472 APOB T>C	2	21235472	21235472	T	C	APOB	c.4268A>G	NM_000384.3	NP_000375.3:p.(Asp1423Gly)	NC_000002.11:g.21235472T>C	VUS	1 lab	057411c8cb
1:55524339 PCSK9 CGTGTGT>C	1	55524339	55524391	CGTGTGT	C	PCSK9	c.1503+66_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524386_55524391del	(Likely) benign	1 lab	05786a493a
13:49034022 RB1 A>ATTTCT	13	49034022	49034025	A	ATTTCT	RB1	c.2106+55_2106+56insTCTTT	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49034024_49034025insTCTTT	(Likely) benign	1 lab	057b37e88d
2:44101711 ABCG8 T>C	2	44101711	44101711	T	C	ABCG8	c.1488+89T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101711T>C	(Likely) benign	1 lab	05809239f1
9:137688951 COL5A1 G>A	9	137688951	137688951	G	A	COL5A1	c.2898+204G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688951G>A	(Likely) benign	1 lab	058846df93
16:71956511 IST1 A>AATGCCC	16	71956511	71956534	A	AATGCCC	IST1	c.705_710dup	NM_001270975.2	NP_001257904.1:p.(Met238_Pro239dup)	NC_000016.9:g.71956529_71956534dup	(Likely) benign	1 lab	058f3d0e4d
14:88452841 GALC G>A	14	88452841	88452841	G	A	GALC	c.434C>T	NM_000153.4	NP_000144.2:p.(Thr145Ile)	NC_000014.8:g.88452841G>A	(Likely) benign	1 lab	0590e9093a
X:40460040 ATP6AP2 T>C	X	40460040	40460040	T	C	ATP6AP2	c.765T>C	NM_005765.3	NP_005756.2:p.(Tyr255=)	NC_000023.10:g.40460040T>C	(Likely) benign	1 lab	05941a0ac8
14:105418719 AHNAK2 C>T	14	105418719	105418719	C	T	AHNAK2	c.3069G>A	NM_138420.4	NP_612429.2:p.(Val1023=)	NC_000014.8:g.105418719C>T	(Likely) benign	1 lab	0599862cea
4:90856226 MMRN1 T>C	4	90856226	90856226	T	C	MMRN1	c.1395T>C	NM_007351.3	NP_031377.2:p.(Asn465=)	NC_000004.11:g.90856226T>C	(Likely) benign	1 lab	059b11eac4
7:150652744 KCNH2 T>C	7	150652744	150652744	T	C	KCNH2	c.1128+1635A>G	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150652744T>C	(Likely) benign	1 lab	059cfde9e0
2:84752499 MISSING Ref too long to show for this DEL>A	2	84752499	85166076	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.84752502_85166076del	VUS	1 lab	059f658c5a
8:8103809 MISSING Ref too long to show for this DEL>C	8	8103809	8260072	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.8103810_8260072del	VUS	1 lab	05a6a94347
15:63331545 TPM1 Ref too long to show for this DEL>T	15	63331545	63363831	Ref too long to show for this DEL	T	TPM1				NC_000015.9:g.63331547_63363831del	VUS	1 lab	05aea1b82e
11:116706821 APOA1 G>T	11	116706821	116706821	G	T	APOA1	c.507C>A	NM_000039.3	NP_000030.1:p.(Gly169=)	NC_000011.9:g.116706821G>T	(Likely) benign	1 lab	05b01b4ec7
1:196544116 MISSING Ref too long to show for this DEL>T	1	196544116	197255562	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.196544118_197255562del	(Likely) pathogenic	1 lab	05b84b0d52
2:179460487 TTN A>T	2	179460487	179460487	A	T	TTN	c.57594T>A	NM_001267550.2	NP_001254479.2:p.(Asn19198Lys)	NC_000002.11:g.179460487A>T	VUS	1 lab	05bcf0a733
7:150648766 KCNH2 C>T	7	150648766	150648766	C	T	KCNH2	c.1715G>A	NM_000238.4	NP_000229.1:p.(Gly572Asp)	NC_000007.13:g.150648766C>T	(Likely) pathogenic	1 lab	05bdb13773
11:105774591 GRIA4 C>T	11	105774591	105774591	C	T	GRIA4	c.937C>T	NM_001077243.3	NP_001070711.3:p.(Arg313Ter)	NC_000011.9:g.105774591C>T	VUS	1 lab	05be5531d6
2:179440085 TTN C>G	2	179440085	179440085	C	G	TTN	c.70774G>C	NM_001267550.2	NP_001254479.2:p.(Val23592Leu)	NC_000002.11:g.179440085C>G	VUS	1 lab	05c73d6068
2:27684644 IFT172 G>A	2	27684644	27684644	G	A	IFT172	c.2175C>T	NM_015662.3	NP_056477.1:p.(Ile725=)	NC_000002.11:g.27684644G>A	(Likely) benign	1 lab	05d08b81c5
9:135224808 SETX G>A	9	135224808	135224808	G	A	SETX	c.8C>T	NM_015046.7	NP_055861.3:p.(Thr3Ile)	NC_000009.11:g.135224808G>A	(Likely) pathogenic	1 lab	05d5aa8a98
1:161276590 MPZ T>TAGTAGA	1	161276590	161276594	T	TAGTAGA	MPZ	c.355_356insTCTACT	NM_000530.8	NP_000521.2:p.(Asp118_Tyr119insPheTyr)	NC_000001.10:g.161276593_161276594insAGAAGT	(Likely) pathogenic	1 lab	05df35d801
22:46805007 CELSR1 G>A	22	46805007	46805007	G	A	CELSR1	c.5112C>T	NM_001378328.1	NP_001365257.1:p.(Asp1704=)	NC_000022.10:g.46805007G>A	(Likely) benign	1 lab	05e7024136
13:32906851 BRCA2 C>A	13	32906851	32906851	C	A	BRCA2	c.1236C>A	NM_000059.4	NP_000050.3:p.(Pro412=)	NC_000013.10:g.32906851C>A	(Likely) benign	1 lab	05ee46a5a9
12:21959010 ABCC9 A>AT	12	21959010	21959011	A	AT	ABCC9	c.4450-17_4450-16insA	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21959010_21959011insT	(Likely) benign	1 lab	06017b62e4
12:124258772 DNAH10 C>T	12	124258772	124258772	C	T	DNAH10	c.399C>T	NM_207437.3	NP_997320.2:p.(Asn133=)	NC_000012.11:g.124258772C>T	(Likely) benign	1 lab	0602a914a4
9:80863708 CEP78 G>A	9	80863708	80863708	G	A	CEP78	c.988G>A	NM_001098802.3	NP_001092272.1:p.(Glu330Lys)	NC_000009.11:g.80863708G>A	VUS	1 lab	0603ca6206
15:58834171 LIPC C>T	15	58834171	58834171	C	T	LIPC	c.456+5C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834171C>T	(Likely) benign	1 lab	0604a457d0
6:146755509 GRM1 C>G	6	146755509	146755509	C	G	GRM1	c.3162C>G	NM_001278064.2	NP_001264993.1:p.(Gly1054=)	NC_000006.11:g.146755509C>G	(Likely) benign	1 lab	0604b6fc5f
2:179413785 TTN A>G	2	179413785	179413785	A	G	TTN	c.84864T>C	NM_133378.4	NP_596869.4:p.(Tyr28288=)	NC_000002.11:g.179413785A>G	(Likely) benign	1 lab	060a00dddc
9:139326309 INPP5E G>A	9	139326309	139326309	G	A	INPP5E	c.1513C>T	NM_001318502.2	NP_001305431.1:p.(Gln505Ter)	NC_000009.11:g.139326309G>A	(Likely) pathogenic	1 lab	060f186860
11:75917419 WNT11 C>G	11	75917419	75917419	C	G	WNT11	c.33G>C	NM_004626.3	NP_004617.2:p.(Leu11=)	NC_000011.9:g.75917419C>G	(Likely) benign	1 lab	0611d784f9
15:65952598 SLC24A1 T>C	15	65952598	65952598	T	C	SLC24A1	c.2997-19T>C	NM_001301033.2	NP_001287962.1:p.?	NC_000015.9:g.65952598T>C	(Likely) benign	1 lab	0614129b81
1:223284721 TLR5 C>T	1	223284721	223284721	C	T	TLR5	c.1653G>A	NM_003268.6	NP_003259.2:p.(Glu551=)	NC_000001.10:g.223284721C>T	(Likely) benign	1 lab	061533faa2
9:137650127 COL5A1 C>A	9	137650127	137650127	C	A	COL5A1	c.1920C>A	NM_000093.5	NP_000084.3:p.(Gly640=)	NC_000009.11:g.137650127C>A	(Likely) benign	1 lab	0615c94d40
11:47358040 MYBPC3 CAAA>C	11	47358040	47358064	CAAA	C	MYBPC3	c.2603-481_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358062_47358064del	(Likely) benign	1 lab	061bacd57f
9:107578632 ABCA1 G>A	9	107578632	107578632	G	A	ABCA1	c.3536-6C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578632G>A	(Likely) benign	1 lab	06238423fe
1:25883879 LDLRAP1 G>A	1	25883879	25883879	G	A	LDLRAP1	c.459+121G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883879G>A	VUS	1 lab	0628922f5f
18:25563067 CDH2 A>G	18	25563067	25563067	A	G	CDH2	c.2210-20T>C	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25563067A>G	(Likely) benign	1 lab	062a72ce72
12:21294611 SLCO1B1 T>G	12	21294611	21294611	T	G	SLCO1B1	c.84+19T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21294611T>G	(Likely) benign	1 lab	063369cff1
12:21331510 SLCO1B1 G>A	12	21331510	21331510	G	A	SLCO1B1	c.482G>A	NM_006446.5	NP_006437.3:p.(Gly161Asp)	NC_000012.11:g.21331510G>A	(Likely) benign	1 lab	063868c50c
3:186038161 MISSING Ref too long to show for this DEL>G	3	186038161	190260508	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.186038162_190260508del	(Likely) pathogenic	1 lab	063b8a4db7
2:179463986 TTN G>A	2	179463986	179463986	G	A	TTN	c.56534C>T	NM_001267550.2	NP_001254479.2:p.(Thr18845Met)	NC_000002.11:g.179463986G>A	VUS	1 lab	063f89d7e3
17:43581950 MISSING Ref too long to show for this DEL>G	17	43581950	44221385	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.43581952_44221385del	(Likely) pathogenic	1 lab	06452c7408
22:50885863 SBF1 C>T	22	50885863	50885863	C	T	SBF1	c.5471G>A	NM_002972.4	NP_002963.2:p.(Arg1824His)	NC_000022.10:g.50885863C>T	VUS	1 lab	0648416a9d
2:62066748 FAM161A T>C	2	62066748	62066748	T	C	FAM161A	c.1391A>G	NM_001201543.2	NP_001188472.1:p.(His464Arg)	NC_000002.11:g.62066748T>C	VUS	1 lab	064ceebbf3
5:148386525 SH3TC2 T>C	5	148386525	148386525	T	C	SH3TC2	c.3594A>G	NM_024577.4	NP_078853.2:p.(Pro1198=)	NC_000005.9:g.148386525T>C	(Likely) benign	1 lab	065236db23
5:82786194 VCAN T>C	5	82786194	82786194	T	C	VCAN	c.348T>C	NM_004385.5	NP_004376.2:p.(Thr116=)	NC_000005.9:g.82786194T>C	(Likely) benign	1 lab	0657b84214
2:44073389 ABCG8 C>T	2	44073389	44073389	C	T	ABCG8	c.261C>T	NM_022437.3	NP_071882.1:p.(Gly87=)	NC_000002.11:g.44073389C>T	(Likely) benign	1 lab	0659df28a5
3:113981173 MISSING A>Alt too long to show for this DUP	3	113981173	114014463	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.113981174_114014463dup	VUS	1 lab	065dfe2624
6:123892175 TRDN G>A	6	123892175	123892175	G	A	TRDN	c.125C>T	NM_006073.4	NP_006064.2:p.(Thr42Met)	NC_000006.11:g.123892175G>A	VUS	1 lab	06677db60d
1:100661987 DBT GAAAAAAAA>G	1	100661987	100662015	GAAAAAAAA	G	DBT	c.1282-17_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662008_100662015del	(Likely) benign	1 lab	066a15635a
16:84075749 SLC38A8 G>A	16	84075749	84075749	G	A	SLC38A8	c.14C>T	NM_001080442.3	NP_001073911.1:p.(Thr5Ile)	NC_000016.9:g.84075749G>A	(Likely) benign	1 lab	066c88ea8b
12:52245419 MISSING C>Alt too long to show for this DUP	12	52245419	52372156	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.52245420_52372156dup	VUS	1 lab	0682352a90
2:220286045 DES T>A	2	220286045	220286045	T	A	DES	c.1024-17T>A	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220286045T>A	(Likely) benign	1 lab	06868c4fbb
5:127728870 FBN2 C>G	5	127728870	127728870	C	G	FBN2	c.1423G>C	NM_001999.4	NP_001990.2:p.(Gly475Arg)	NC_000005.9:g.127728870C>G	VUS	1 lab	0687a27df1
16:23649426 PALB2 TC>T	16	23649426	23649427	TC	T	PALB2	c.72del	NM_024675.4	NP_078951.2:p.(Arg26GlyfsTer7)	NC_000016.9:g.23649427del	(Likely) pathogenic	1 lab	068860ac41
2:44101640 ABCG8 A>T	2	44101640	44101640	A	T	ABCG8	c.1488+18A>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101640A>T	(Likely) benign	1 lab	0689025143
7:150647463 KCNH2 G>A	7	150647463	150647463	G	A	KCNH2	c.2191C>T	NM_000238.4	NP_000229.1:p.(His731Tyr)	NC_000007.13:g.150647463G>A	VUS	1 lab	068ae9942b
18:58038877 MC4R G>A	18	58038877	58038877	G	A	MC4R	c.706C>T	NM_005912.3	NP_005903.2:p.(Arg236Cys)	NC_000018.9:g.58038877G>A	VUS	1 lab	068bab5449
17:40696244 NAGLU C>T	17	40696244	40696244	C	T	NAGLU	c.2220C>T	NM_000263.4	NP_000254.2:p.(Ala740=)	NC_000017.10:g.40696244C>T	(Likely) benign	1 lab	069e10433d
2:27683906 IFT172 G>A	2	27683906	27683906	G	A	IFT172	c.2497C>T	NM_015662.3	NP_056477.1:p.(Arg833Cys)	NC_000002.11:g.27683906G>A	VUS	1 lab	06a61233f0
12:52162882 SCN8A C>T	12	52162882	52162882	C	T	SCN8A	c.3135C>T	NM_014191.4	NP_055006.1:p.(Ile1045=)	NC_000012.11:g.52162882C>T	(Likely) benign	1 lab	06a6dbefdd
2:179604141 TTN T>C	2	179604141	179604141	T	C	TTN	c.13819A>G	NM_001267550.2	NP_001254479.2:p.(Met4607Val)	NC_000002.11:g.179604141T>C	VUS	1 lab	06a96c974e
18:47093867 LIPG G>T	18	47093867	47093867	G	T	LIPG	c.335G>T	NM_006033.4	NP_006024.1:p.(Arg112Ile)	NC_000018.9:g.47093867G>T	VUS	1 lab	06ac41cbca
12:122252191 SETD1B G>GC	12	122252191	122252199	G	GC	SETD1B	c.2078dup	NM_001353345.2	NP_001340274.1:p.(Pro694ThrfsTer148)	NC_000012.11:g.122252199dup	(Likely) pathogenic	1 lab	06ad374122
8:134269050 NDRG1 C>T	8	134269050	134269050	C	T	NDRG1	c.507G>A	NM_001135242.2	NP_001128714.1:p.(Ala169=)	NC_000008.10:g.134269050C>T	(Likely) benign	1 lab	06ad7be8e7
15:44881576 SPG11 G>C	15	44881576	44881576	G	C	SPG11	c.4780C>G	NM_025137.4	NP_079413.3:p.(Pro1594Ala)	NC_000015.9:g.44881576G>C	VUS	1 lab	06ae615553
12:50497825 GPD1 C>T	12	50497825	50497825	C	T	GPD1	c.-9C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50497825C>T	VUS	1 lab	06b531506e
10:73565981 CDH23 G>T	10	73565981	73565981	G	T	CDH23	c.8121G>T	NM_022124.6	NP_071407.4:p.(Pro2707=)	NC_000010.10:g.73565981G>T	(Likely) benign	1 lab	06b56509db
4:38799702 TLR1 AG>A	4	38799702	38799704	AG	A	TLR1	c.750del	NM_003263.4	NP_003254.2:p.(Leu251Ter)	NC_000004.11:g.38799704del	VUS	1 lab	06b59bacd8
7:128484183 FLNC G>A	7	128484183	128484183	G	A	FLNC	c.3055G>A	NM_001458.5	NP_001449.3:p.(Gly1019Ser)	NC_000007.13:g.128484183G>A	VUS	1 lab	06b65f1c28
19:33878884 PEPD T>C	19	33878884	33878884	T	C	PEPD	c.1256A>G	NM_000285.4	NP_000276.2:p.(Asp419Gly)	NC_000019.9:g.33878884T>C	(Likely) benign	1 lab	06b6e5607e
11:116706989 APOA1 A>C	11	116706989	116706989	A	C	APOA1	c.12T>G	NM_001318021.1	NP_001304950.1:p.(Asp4Glu)	NC_000011.9:g.116706989A>C	VUS	1 lab	06bcd51ee9
15:58834375 LIPC T>C	15	58834375	58834375	T	C	LIPC	c.456+209T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834375T>C	(Likely) benign	1 lab	06c28edff2
4:100503062 MTTP G>T	4	100503062	100503062	G	T	MTTP	c.62G>T	NM_000253.4	NP_000244.2:p.(Gly21Val)	NC_000004.11:g.100503062G>T	VUS	1 lab	06c3940aaa
19:16593551 CALR3 C>T	19	16593551	16593551	C	T	CALR3	c.724G>A	NM_145046.5	NP_659483.2:p.(Asp242Asn)	NC_000019.9:g.16593551C>T	VUS	1 lab	06c731af2b
12:2595423 CACNA1C T>C	12	2595423	2595423	T	C	CACNA1C	c.911T>C	NM_001167623.2	NP_001161095.1:p.(Ile304Thr)	NC_000012.11:g.2595423T>C	(Likely) benign	1 lab	06c9dc23d3
15:22752397 MISSING Ref too long to show for this DEL>C	15	22752397	23290863	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22752399_23290863del	(Likely) pathogenic	1 lab	06cb63270f
10:43572749 RET TTGC>T	10	43572749	43572764	TTGC	T	RET	c.56_58del	NM_020975.6	NP_066124.1:p.(Leu19del)	NC_000010.10:g.43572762_43572764del	(Likely) benign	1 lab	06ce388ee9
5:1254639 TERT T>G	5	1254639	1254639	T	G	TERT	c.3158-19A>C	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1254639T>G	(Likely) benign	1 lab	06d084d8ee
2:96471811 MISSING Ref too long to show for this DEL>A	2	96471811	98024979	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.96471812_98024979del	(Likely) pathogenic	1 lab	06d54c16da
9:111679964 ELP1 C>CA	9	111679964	111679965	C	CA	ELP1	c.741-15dup	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111679965dup	(Likely) benign	1 lab	06dca54409
11:68177414 LRP5 G>A	11	68177414	68177414	G	A	LRP5	c.2124G>A	NM_002335.4	NP_002326.2:p.(Ser708=)	NC_000011.9:g.68177414G>A	(Likely) benign	1 lab	06dd847eef
16:83949040 MLYCD C>T	16	83949040	83949040	C	T	MLYCD	c.1428C>T	NM_012213.3	NP_036345.2:p.(Ala476=)	NC_000016.9:g.83949040C>T	(Likely) benign	1 lab	06de7d400d
7:122323722 CADPS2 Ref too long to show for this DEL>C	7	122323722	122330330	Ref too long to show for this DEL	C	CADPS2	c.454-26707_454-20100del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122323723_122330330del	VUS	1 lab	06e5361e9f
9:12707998 TYRP1 T>C	9	12707998	12707998	T	C	TYRP1	c.1263T>C	NM_000550.3	NP_000541.1:p.(Asp421=)	NC_000009.11:g.12707998T>C	(Likely) benign	1 lab	06e6060766
12:57963793 KIF5A C>T	12	57963793	57963793	C	T	KIF5A	c.1141C>T	NM_004984.4	NP_004975.2:p.(Arg381Cys)	NC_000012.11:g.57963793C>T	VUS	1 lab	06ec9db336
X:114871127 PLS3 A>AT	X	114871127	114871140	A	AT	PLS3	c.749-8dup	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114871140dup	(Likely) benign	1 lab	06f4ce6990
4:166300427 CPE C>G	4	166300427	166300427	C	G	CPE	c.54C>G	NM_001873.4	NP_001864.1:p.(Ala18=)	NC_000004.11:g.166300427C>G	(Likely) benign	1 lab	06f84ba400
X:62917025 ARHGEF9 C>T	X	62917025	62917025	C	T	ARHGEF9	c.541G>A	NM_015185.3	NP_056000.1:p.(Gly181Arg)	NC_000023.10:g.62917025C>T	(Likely) pathogenic	1 lab	06f9360374
2:223756337 ACSL3 Ref too long to show for this DEL>T	2	223756337	223768493	Ref too long to show for this DEL	T	ACSL3	c.-148+3733_-41+2995del	NM_004457.5	NP_004448.2:p.?	NC_000002.11:g.223756339_223768493del	VUS	1 lab	06fade2645
11:47371836 MYBPC3 C>T	11	47371836	47371836	C	T	MYBPC3	c.407-173G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371836C>T	(Likely) benign	1 lab	07020ca2df
5:149777935 TCOF1 AAAAAG>A	5	149777935	149777947	AAAAAG	A	TCOF1	c.4369_4373del	NM_001135243.2	NP_001128715.1:p.(Lys1457GlufsTer12)	NC_000005.9:g.149777943_149777947del	(Likely) pathogenic	1 lab	07030e1a03
11:71946333 INPPL1 T>C	11	71946333	71946333	T	C	INPPL1	c.2504-7T>C	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71946333T>C	(Likely) benign	1 lab	0708cee88a
10:85974392 CDHR1 C>G	10	85974392	85974392	C	G	CDHR1	c.*15C>G	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85974392C>G	(Likely) benign	1 lab	070a0dc204
6:70951719 COL9A1 C>G	6	70951719	70951719	C	G	COL9A1	c.1946G>C	NM_001851.6	NP_001842.3:p.(Gly649Ala)	NC_000006.11:g.70951719C>G	VUS	1 lab	070fe14a5e
2:110922080 NPHP1 C>T	2	110922080	110922080	C	T	NPHP1	c.939+17G>A	NM_000272.5	NP_000263.2:p.?	NC_000002.11:g.110922080C>T	(Likely) benign	1 lab	07129bdc54
11:46726823 ZNF408 C>T	11	46726823	46726823	C	T	ZNF408	c.1573C>T	NM_024741.3	NP_079017.1:p.(Arg525Cys)	NC_000011.9:g.46726823C>T	VUS	1 lab	071ae85df9
19:46393959 MYPOP A>G	19	46393959	46393959	A	G	MYPOP	c.1122T>C	NM_001012643.4	NP_001012661.1:p.(Pro374=)	NC_000019.9:g.46393959A>G	(Likely) benign	1 lab	072111c24c
19:50367459 PNKP C>T	19	50367459	50367459	C	T	PNKP	c.613G>A	NM_007254.4	NP_009185.2:p.(Glu205Lys)	NC_000019.9:g.50367459C>T	(Likely) benign	1 lab	072462013c
1:103406003 COL11A1 T>G	1	103406003	103406003	T	G	COL11A1	c.3313-13A>C	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103406003T>G	(Likely) benign	1 lab	07286ec131
4:56484171 MISSING T>Alt too long to show for this DUP	4	56484171	56582621	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.56484172_56582621dup	VUS	1 lab	0735b17102
16:72019994 PKD1L3 Ref too long to show for this DEL>T	16	72019994	72029790	Ref too long to show for this DEL	T	PKD1L3	c.418+2381_834+125del	NM_181536.2	NP_853514.1:p.?	NC_000016.9:g.72019995_72029790del	VUS	1 lab	073eca23fe
9:140137282 TUBB4B C>T	9	140137282	140137282	C	T	TUBB4B	c.612C>T	NM_006088.6	NP_006079.1:p.(Asn204=)	NC_000009.11:g.140137282C>T	(Likely) benign	1 lab	0741848f0a
11:47371886 MYBPC3 C>A	11	47371886	47371886	C	A	MYBPC3	c.406+167G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371886C>A	(Likely) benign	1 lab	074bfc0dde
2:74592275 DCTN1 G>C	2	74592275	74592275	G	C	DCTN1	c.3123C>G	NM_004082.5	NP_004073.2:p.(Ser1041=)	NC_000002.11:g.74592275G>C	(Likely) benign	1 lab	074dc66701
12:21370045 SLCO1B1 C>T	12	21370045	21370045	C	T	SLCO1B1	c.1498-8C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21370045C>T	(Likely) benign	1 lab	074dc99c05
6:112460457 LAMA4 A>G	6	112460457	112460457	A	G	LAMA4	c.3147T>C	NM_001105206.3	NP_001098676.2:p.(Ser1049=)	NC_000006.11:g.112460457A>G	(Likely) benign	1 lab	074f0a869f
6:16129632 MYLIP C>G	6	16129632	16129632	C	G	MYLIP	c.79C>G	NM_013262.4	NP_037394.2:p.(Leu27Val)	NC_000006.11:g.16129632C>G	VUS	1 lab	074fea664c
1:3350332 PRDM16 C>T	1	3350332	3350332	C	T	PRDM16	c.3788C>T	NM_022114.4	NP_071397.3:p.(Ala1263Val)	NC_000001.10:g.3350332C>T	VUS	1 lab	0750697dad
8:75272420 GDAP1 G>A	8	75272420	75272420	G	A	GDAP1	c.359G>A	NM_018972.4	NP_061845.2:p.(Arg120Gln)	NC_000008.10:g.75272420G>A	(Likely) pathogenic	1 lab	07553a5f2d
7:92129161 PEX1 C>CAA	7	92129161	92129173	C	CAA	PEX1	c.1960-11_1960-10dup	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129172_92129173dup	(Likely) benign	1 lab	075e4e26a3
2:179588623 TTN G>A	2	179588623	179588623	G	A	TTN	c.21363C>T	NM_001267550.2	NP_001254479.2:p.(Val7121=)	NC_000002.11:g.179588623G>A	(Likely) benign	1 lab	075f38f69c
18:77474784 CTDP1 G>C	18	77474784	77474784	G	C	CTDP1	c.1324G>C	NM_004715.5	NP_004706.3:p.(Ala442Pro)	NC_000018.9:g.77474784G>C	VUS	1 lab	0762f7f6ac
X:353571 MISSING A>Alt too long to show for this DUP	X	353571	920486	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.353573_920486dup	(Likely) pathogenic	1 lab	07685c4c79
4:648595 PDE6B G>GTGTCTTCTGCTTCTCAGGAAAT	4	648595	648625	G	GTGTCTTCTGCTTCTCAGGAAAT	PDE6B	c.928-9_940dup	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.648604_648625dup	(Likely) benign	1 lab	076b3566ea
X:91187006 PCDH11X G>Alt too long to show for this DUP	X	91187006	91254165	G	Alt too long to show for this DUP	PCDH11X	c.3033+52735_3033+119893dup	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91187007_91254165dup	(Likely) pathogenic	1 lab	076e82e630
1:236850157 ACTN2 C>G	1	236850157	236850157	C	G	ACTN2	c.126+58C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236850157C>G	(Likely) benign	1 lab	076f00d071
2:44055178 ABCG5 A>C	2	44055178	44055178	A	C	ABCG5	c.578T>G	NM_022436.3	NP_071881.1:p.(Ile193Ser)	NC_000002.11:g.44055178A>C	(Likely) pathogenic	1 lab	07709015aa
X:23123004 MISSING Ref too long to show for this DEL>T	X	23123004	23481121	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.23123009_23481121del	(Likely) pathogenic	1 lab	0771f8233a
7:107629569 LAMB1 Ref too long to show for this DEL>A	7	107629569	107647560	Ref too long to show for this DEL	A	LAMB1				NC_000007.13:g.107629570_107647560del	VUS	1 lab	07744bf388
12:125267210 SCARB1 G>A	12	125267210	125267210	G	A	SCARB1	c.1651+3443C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125267210G>A	(Likely) benign	1 lab	0775cf795c
7:50180973 SPMIP7 A>G	7	50180973	50180973	A	G	SPMIP7	c.1074A>G	NM_001161834.3	NP_001155306.3:p.(Thr358=)	NC_000007.13:g.50180973A>G	(Likely) benign	1 lab	077d027329
2:44071676 ABCG8 A>G	2	44071676	44071676	A	G	ABCG8	c.94A>G	NM_022437.3	NP_071882.1:p.(Ser32Gly)	NC_000002.11:g.44071676A>G	(Likely) benign	1 lab	077fba32c8
16:2110710 TSC2 G>A	16	2110710	2110710	G	A	TSC2	c.1015G>A	NM_000548.5	NP_000539.2:p.(Val339Ile)	NC_000016.9:g.2110710G>A	(Likely) benign	1 lab	07846fa6e3
1:109486497 CLCC1 G>A	1	109486497	109486497	G	A	CLCC1	c.231C>T	NM_001377470.1	NP_001364399.1:p.(Phe77=)	NC_000001.10:g.109486497G>A	(Likely) benign	1 lab	078491004d
7:6045633 PMS2 A>G	7	6045633	6045633	A	G	PMS2	c.53T>C	NM_000535.7	NP_000526.2:p.(Ile18Thr)	NC_000007.13:g.6045633A>G	VUS	1 lab	078909b5bb
X:63579314 MTMR8 C>G	X	63579314	63579314	C	G	MTMR8	c.118G>C	NM_017677.4	NP_060147.2:p.(Ala40Pro)	NC_000023.10:g.63579314C>G	(Likely) benign	1 lab	07898c82dc
2:61719471 XPO1 T>C	2	61719471	61719471	T	C	XPO1	c.1712A>G	NM_003400.4	NP_003391.1:p.(Glu571Gly)	NC_000002.11:g.61719471T>C	VUS	1 lab	078a30c514
18:28673547 DSC2 T>C	18	28673547	28673547	T	C	DSC2	c.129A>G	NM_024422.6	NP_077740.1:p.(Leu43=)	NC_000018.9:g.28673547T>C	(Likely) benign	1 lab	078c53be39
8:17984612 MISSING Ref too long to show for this DEL>T	8	17984612	18079692	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.17984615_18079692del	VUS	1 lab	0791735a8a
19:50912821 POLD1 G>C	19	50912821	50912821	G	C	POLD1	c.2052G>C	NM_001256849.1	NP_001243778.1:p.(Gln684His)	NC_000019.9:g.50912821G>C	(Likely) benign	1 lab	07949d8f47
15:73615833 HCN4 G>A	15	73615833	73615833	G	A	HCN4	c.2601C>T	NM_005477.3	NP_005468.1:p.(Ala867=)	NC_000015.9:g.73615833G>A	(Likely) benign	1 lab	0797262391
20:40162160 MISSING A>Alt too long to show for this DUP	20	40162160	40351647	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.40162162_40351647dup	VUS	1 lab	079938004d
19:11217309 LDLR T>C	19	11217309	11217309	T	C	LDLR	c.763T>C	NM_000527.5	NP_000518.1:p.(Cys255Arg)	NC_000019.9:g.11217309T>C	(Likely) pathogenic	1 lab	079940ee3e
19:40384623 FCGBP A>G	19	40384623	40384623	A	G	FCGBP	c.9381T>C	NM_003890.2	NP_003881.2:p.(Tyr3127=)	NC_000019.9:g.40384623A>G	(Likely) benign	1 lab	079b41f805
17:61278143 TANC2 C>T	17	61278143	61278143	C	T	TANC2	c.372C>T	NM_025185.4	NP_079461.2:p.(Ile124=)	NC_000017.10:g.61278143C>T	(Likely) benign	1 lab	079b82673e
2:179589112 TTN C>G	2	179589112	179589112	C	G	TTN	c.20990G>C	NM_001267550.2	NP_001254479.2:p.(Ser6997Thr)	NC_000002.11:g.179589112C>G	VUS	1 lab	07a169afcc
12:48371802 COL2A1 A>G	12	48371802	48371802	A	G	COL2A1	c.3102T>C	NM_001844.5	NP_001835.3:p.(Pro1034=)	NC_000012.11:g.48371802A>G	(Likely) benign	1 lab	07a9371cdb
8:144295844 GPIHBP1 C>T	8	144295844	144295844	C	T	GPIHBP1	c.181+19C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295844C>T	(Likely) benign	1 lab	07ada3e50e
8:61712953 CHD7 C>T	8	61712953	61712953	C	T	CHD7	c.2245C>T	NM_017780.4	NP_060250.2:p.(Arg749Trp)	NC_000008.10:g.61712953C>T	VUS	1 lab	07b2005aa2
1:55505604 PCSK9 G>A	1	55505604	55505604	G	A	PCSK9	c.94G>A	NM_174936.4	NP_777596.2:p.(Glu32Lys)	NC_000001.10:g.55505604G>A	(Likely) pathogenic	1 lab	07b63309b6
15:100514676 ADAMTS17 G>A	15	100514676	100514676	G	A	ADAMTS17	c.3219C>T	NM_139057.4	NP_620688.2:p.(Tyr1073=)	NC_000015.9:g.100514676G>A	(Likely) benign	1 lab	07b84b586c
17:48272792 COL1A1 T>C	17	48272792	48272792	T	C	COL1A1	c.1200+3A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272792T>C	(Likely) benign	1 lab	07bdcd95b1
18:28666706 DSC2 C>T	18	28666706	28666706	C	T	DSC2	c.776-1G>A	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28666706C>T	VUS	1 lab	07c08485d6
10:48416597 GDF2 C>T	10	48416597	48416597	C	T	GDF2	c.97G>A	NM_016204.4	NP_057288.1:p.(Ala33Thr)	NC_000010.10:g.48416597C>T	(Likely) benign	1 lab	07c206d40b
3:88944533 MISSING Ref too long to show for this DEL>A	3	88944533	90309067	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.88944534_90309067del	VUS	1 lab	07c3c8534e
8:59409760 CYP7A1 A>G	8	59409760	59409760	A	G	CYP7A1	c.322-11T>C	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59409760A>G	(Likely) benign	1 lab	07c66825fc
17:9143295 NTN1 AGCGG>A	17	9143295	9143318	AGCGG	A	NTN1	c.*30_*33del	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9143315_9143318del	(Likely) benign	1 lab	07d1beaed4
12:102020669 MYBPC1 G>A	12	102020669	102020669	G	A	MYBPC1	c.123G>A	NM_002465.4	NP_002456.2:p.(Pro41=)	NC_000012.11:g.102020669G>A	(Likely) benign	1 lab	07d8bb3fe9
1:202915669 ADIPOR1 G>A	1	202915669	202915669	G	A	ADIPOR1	c.328C>T	NM_001290557.1	NP_001277486.1:p.(Leu110=)	NC_000001.10:g.202915669G>A	(Likely) benign	1 lab	07d955b3c8
3:101038486 IMPG2 G>A	3	101038486	101038486	G	A	IMPG2	c.276C>T	NM_016247.4	NP_057331.2:p.(Cys92=)	NC_000003.11:g.101038486G>A	(Likely) benign	1 lab	07dcdcc88a
3:32148200 GPD1L G>A	3	32148200	32148200	G	A	GPD1L	c.-4G>A	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32148200G>A	(Likely) benign	1 lab	07de3ab098
17:79517393 FAAP100 G>A	17	79517393	79517393	G	A	FAAP100	c.1127C>T	NM_025161.6	NP_079437.5:p.(Thr376Ile)	NC_000017.10:g.79517393G>A	(Likely) benign	1 lab	07de533152
2:21245898 APOB A>G	2	21245898	21245898	A	G	APOB	c.2621T>C	NM_000384.3	NP_000375.3:p.(Val874Ala)	NC_000002.11:g.21245898A>G	VUS	1 lab	07dec226d6
1:201331099 TNNT2 T>A	1	201331099	201331099	T	A	TNNT2	c.631A>T	NM_001276347.2	NP_001263276.1:p.(Ile211Phe)	NC_000001.10:g.201331099T>A	VUS	1 lab	07e65c95a0
2:179585642 TTN T>C	2	179585642	179585642	T	C	TTN	c.23098+6A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585642T>C	(Likely) benign	1 lab	07ed95ddea
2:179485494 TTN C>G	2	179485494	179485494	C	G	TTN	c.45843G>C	NM_001267550.2	NP_001254479.2:p.(Leu15281Phe)	NC_000002.11:g.179485494C>G	VUS	1 lab	07edb081a1
16:930079 LMF1 C>T	16	930079	930079	C	T	LMF1	c.331-342G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.930079C>T	(Likely) benign	1 lab	07f3f6235e
10:18439784 CACNB2 C>CTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTT	CACNB2	c.37-13_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439799_18439809dup	(Likely) benign	1 lab	07f75818f4
5:140514836 MISSING G>Alt too long to show for this DUP	5	140514836	140827222	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.140514837_140827222dup	VUS	1 lab	07fc822d44
22:46777892 CELSR1 C>T	22	46777892	46777892	C	T	CELSR1	c.6939G>A	NM_001378328.1	NP_001365257.1:p.(Pro2313=)	NC_000022.10:g.46777892C>T	(Likely) benign	1 lab	07fe34484a
3:30713433 TGFBR2 G>A	3	30713433	30713433	G	A	TGFBR2	c.833G>A	NM_001024847.2	NP_001020018.1:p.(Gly278Asp)	NC_000003.11:g.30713433G>A	VUS	1 lab	07fe5ac149
16:89346392 ANKRD11 CTCCTCA>C	16	89346392	89346398	CTCCTCA	C	ANKRD11	c.6552_6557del	NM_001256182.2	NP_001243111.1:p.(Glu2185_Glu2186del)	NC_000016.9:g.89346393_89346398del	VUS	1 lab	07ffd83ddf
6:42626564 UBR2 TA>T	6	42626564	42626584	TA	T	UBR2	c.3242+22del	NM_015255.3	NP_056070.1:p.?	NC_000006.11:g.42626584del	(Likely) benign	1 lab	08025b41c6
15:71535436 THSD4 G>T	15	71535436	71535436	G	T	THSD4	c.912+1G>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71535436G>T	(Likely) pathogenic	1 lab	080579ea12
9:35061053 VCP C>T	9	35061053	35061053	C	T	VCP	c.1183G>A	NM_001354928.2	NP_001341857.1:p.(Glu395Lys)	NC_000009.11:g.35061053C>T	VUS	1 lab	0808428cb7
6:45341649 MISSING A>Alt too long to show for this DUP	6	45341649	46054890	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.45341650_46054890dup	VUS	1 lab	080adf8b62
19:55317489 KIR2DL4 C>A	19	55317489	55317489	C	A	KIR2DL4	c.445C>A	NM_001080772.2	NP_001074241.1:p.(Gln149Lys)	NC_000019.9:g.55317489C>A	(Likely) benign	1 lab	080bc99d65
4:184585015 TRAPPC11 G>A	4	184585015	184585015	G	A	TRAPPC11	c.-6G>A	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184585015G>A	(Likely) benign	1 lab	08154c7056
11:66333643 CTSF G>A	11	66333643	66333643	G	A	CTSF	c.722-5C>T	NM_003793.4	NP_003784.2:p.?	NC_000011.9:g.66333643G>A	(Likely) benign	1 lab	08186e7032
2:73653595 ALMS1 A>G	2	73653595	73653595	A	G	ALMS1	c.1255A>G	NM_015120.4	NP_055935.4:p.(Lys419Glu)	NC_000002.11:g.73653595A>G	VUS	1 lab	081c2a58c1
6:116757284 DSE G>A	6	116757284	116757284	G	A	DSE	c.1653G>A	NM_013352.4	NP_037484.1:p.(Leu551=)	NC_000006.11:g.116757284G>A	(Likely) benign	1 lab	082174de87
3:123440879 MYLK G>T	3	123440879	123440879	G	T	MYLK	c.1804+96C>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123440879G>T	(Likely) benign	1 lab	08219fea9c
5:149263074 PDE6A C>T	5	149263074	149263074	C	T	PDE6A	c.2053G>A	NM_000440.3	NP_000431.2:p.(Val685Met)	NC_000005.9:g.149263074C>T	(Likely) pathogenic	1 lab	0823a8346b
1:227071605 PSEN2 A>G	1	227071605	227071605	A	G	PSEN2	c.341A>G	NM_000447.3	NP_000438.2:p.(Glu114Gly)	NC_000001.10:g.227071605A>G	VUS	1 lab	0825d3f802
10:27688188 PTCHD3 AG>A	10	27688188	27688189	AG	A	PTCHD3	c.1358-20del	NM_001034842.4	NP_001030014.2:p.?	NC_000010.10:g.27688189del	(Likely) benign	1 lab	082ae9d9c8
12:21327652 SLCO1B1 T>TAA	12	21327652	21327666	T	TAA	SLCO1B1	c.359+22_359+23dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327665_21327666dup	(Likely) benign	1 lab	082de82475
2:179584375 TTN G>T	2	179584375	179584375	G	T	TTN	c.23844C>A	NM_001267550.2	NP_001254479.2:p.(Ile7948=)	NC_000002.11:g.179584375G>T	(Likely) benign	1 lab	0831ac3400
3:171379836 PLD1 Ref too long to show for this DEL>T	3	171379836	171405369	Ref too long to show for this DEL	T	PLD1	c.1546_2340+13del	NM_002662.5	NP_002653.1:p.?	NC_000003.11:g.171379838_171405369del	VUS	1 lab	0834db0e24
7:128480138 FLNC G>A	7	128480138	128480138	G	A	FLNC	c.1473G>A	NM_001458.5	NP_001449.3:p.(Val491=)	NC_000007.13:g.128480138G>A	(Likely) benign	1 lab	0835e3742c
3:38592651 SCN5A AG>A	3	38592651	38592652	AG	A	SCN5A	c.5211del	NM_198056.3	NP_932173.1:p.(Ser1738LeufsTer49)	NC_000003.11:g.38592652del	(Likely) pathogenic	1 lab	0838c3518c
19:11227658 LDLR C>T	19	11227658	11227658	C	T	LDLR	c.1829C>T	NM_000527.5	NP_000518.1:p.(Ser610Phe)	NC_000019.9:g.11227658C>T	(Likely) pathogenic	1 lab	0839b7a5e4
9:125652555 MISSING Ref too long to show for this DEL>A	9	125652555	125887272	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.125652557_125887272del	(Likely) pathogenic	1 lab	083b5c9c4e
7:81334828 HGF G>A	7	81334828	81334828	G	A	HGF	c.1888C>T	NM_000601.6	NP_000592.3:p.(Arg630Ter)	NC_000007.13:g.81334828G>A	VUS	1 lab	083c725219
1:240371145 FMN2 T>A	1	240371145	240371145	T	A	FMN2	c.3045T>A	NM_001305424.2	NP_001292353.1:p.(Pro1015=)	NC_000001.10:g.240371145T>A	(Likely) benign	1 lab	083cb50ae4
3:38663984 SCN5A C>T	3	38663984	38663984	C	T	SCN5A	c.393-4G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38663984C>T	VUS	1 lab	083d1073c7
15:48796042 FBN1 G>A	15	48796042	48796042	G	A	FBN1	c.2055C>T	NM_000138.5	NP_000129.3:p.(Cys685=)	NC_000015.9:g.48796042G>A	(Likely) benign	1 lab	08691d950c
10:78084193 LRMDA G>A	10	78084193	78084193	G	A	LRMDA	c.467G>A	NM_032024.5	NP_114413.1:p.(Arg156His)	NC_000010.10:g.78084193G>A	VUS	1 lab	083f37f1d0
2:179612521 TTN G>T	2	179612521	179612521	G	T	TTN	c.14606C>A	NM_133379.5	NP_596870.2:p.(Ala4869Asp)	NC_000002.11:g.179612521G>T	(Likely) benign	1 lab	083fd42161
2:189867096 COL3A1 A>G	2	189867096	189867096	A	G	COL3A1	c.2445+19A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867096A>G	(Likely) benign	1 lab	084dec2889
11:116661202 APOA5 T>C	11	116661202	116661202	T	C	APOA5	c.743A>G	NM_052968.5	NP_443200.2:p.(Gln248Arg)	NC_000011.9:g.116661202T>C	VUS	1 lab	08509af451
16:57003723 CETP G>T	16	57003723	57003723	G	T	CETP	c.440-103G>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003723G>T	(Likely) benign	1 lab	0850b2aafd
22:50886974 SBF1 G>A	22	50886974	50886974	G	A	SBF1	c.5149C>T	NM_002972.4	NP_002963.2:p.(Arg1717Cys)	NC_000022.10:g.50886974G>A	VUS	1 lab	0850df9054
19:38966070 RYR1 A>G	19	38966070	38966070	A	G	RYR1	c.4273A>G	NM_000540.3	NP_000531.2:p.(Ile1425Val)	NC_000019.9:g.38966070A>G	VUS	1 lab	085176c166
15:58840597 LIPC G>A	15	58840597	58840597	G	A	LIPC	c.877G>A	NM_000236.3	NP_000227.2:p.(Ala293Thr)	NC_000015.9:g.58840597G>A	VUS	1 lab	0854ae4cb3
15:73621992 HCN4 G>A	15	73621992	73621992	G	A	HCN4	c.1512C>T	NM_005477.3	NP_005468.1:p.(Thr504=)	NC_000015.9:g.73621992G>A	(Likely) benign	1 lab	0855f1987a
7:16460916 CRPPA G>C	7	16460916	16460916	G	C	CRPPA	c.32C>G	NM_001368197.1	NP_001355126.1:p.(Pro11Arg)	NC_000007.13:g.16460916G>C	(Likely) benign	1 lab	08574e150c
16:81411673 GAN C>G	16	81411673	81411673	C	G	GAN	c.*472C>G	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81411673C>G	(Likely) benign	1 lab	085ade13ac
9:203860 MISSING Ref too long to show for this DEL>T	9	203860	606688	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.203863_606688del	(Likely) pathogenic	1 lab	085edbb72c
19:55320298 KIR2DL4 T>A	19	55320298	55320298	T	A	KIR2DL4	c.666T>A	NM_001080772.2	NP_001074241.1:p.(Ser222=)	NC_000019.9:g.55320298T>A	(Likely) benign	1 lab	086224c70e
X:122622933 GRIA3 T>TAC	X	122622933	122622968	T	TAC	GRIA3	c.*406_*407dup	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122622967_122622968dup	(Likely) benign	1 lab	0864a7936a
1:55510015 PCSK9 C>T	1	55510015	55510015	C	T	PCSK9	c.399+308C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55510015C>T	(Likely) benign	1 lab	08682322a9
15:45454112 DUOX1 C>T	15	45454112	45454112	C	T	DUOX1	c.4033C>T	NM_017434.5	NP_059130.2:p.(Arg1345Cys)	NC_000015.9:g.45454112C>T	VUS	1 lab	086e82a56e
9:111660851 ELP1 C>T	9	111660851	111660851	C	T	ELP1	c.2294G>A	NM_003640.5	NP_003631.2:p.(Gly765Glu)	NC_000009.11:g.111660851C>T	(Likely) benign	1 lab	08728c2aa7
9:79897180 VPS13A T>C	9	79897180	79897180	T	C	VPS13A	c.3108T>C	NM_033305.3	NP_150648.2:p.(Ile1036=)	NC_000009.11:g.79897180T>C	(Likely) benign	1 lab	0875f67a57
14:23858859 MYH6 C>T	14	23858859	23858859	C	T	MYH6	c.3802G>A	NM_002471.4	NP_002462.2:p.(Ala1268Thr)	NC_000014.8:g.23858859C>T	VUS	1 lab	08791fc94c
1:218578685 TGFB2 T>TTTGTTGTTG	1	218578685	218578717	T	TTTGTTGTTG	TGFB2	c.594+35_594+43dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578709_218578717dup	(Likely) benign	1 lab	08793fe72e
11:47370206 MYBPC3 C>CAG	11	47370206	47370207	C	CAG	MYBPC3	c.655-115_655-114insCT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370206_47370207insAG	(Likely) benign	1 lab	088190d34d
12:50503269 GPD1 C>T	12	50503269	50503269	C	T	GPD1	c.1017C>T	NM_005276.4	NP_005267.2:p.(Ile339=)	NC_000012.11:g.50503269C>T	(Likely) benign	1 lab	08824d2e45
14:96706989 BDKRB2 C>T	14	96706989	96706989	C	T	BDKRB2	c.324C>T	NM_000623.4	NP_000614.1:p.(Cys108=)	NC_000014.8:g.96706989C>T	(Likely) benign	1 lab	0882821d6b
18:2740714 SMCHD1 A>G	18	2740714	2740714	A	G	SMCHD1	c.3528A>G	NM_015295.3	NP_056110.2:p.(Thr1176=)	NC_000018.9:g.2740714A>G	(Likely) benign	1 lab	0884c6f81b
2:179467330 TTN G>GA	2	179467330	179467340	G	GA	TTN	c.54812-14dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179467340dup	(Likely) benign	1 lab	088598b143
7:151860281 KMT2C C>T	7	151860281	151860281	C	T	KMT2C	c.10381G>A	NM_170606.3	NP_733751.2:p.(Asp3461Asn)	NC_000007.13:g.151860281C>T	VUS	1 lab	088fd7eb17
10:112540787 RBM20 G>A	10	112540787	112540787	G	A	RBM20	c.420G>A	NM_001134363.3	NP_001127835.2:p.(Pro140=)	NC_000010.10:g.112540787G>A	(Likely) benign	1 lab	0890f126a7
15:48818494 FBN1 A>G	15	48818494	48818494	A	G	FBN1	c.863-42T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818494A>G	(Likely) benign	1 lab	0892c19948
10:69366596 CTNNA3 C>A	10	69366596	69366596	C	A	CTNNA3	c.292+19G>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69366596C>A	(Likely) benign	1 lab	08957e5a9e
12:9007428 A2ML1 G>A	12	9007428	9007428	G	A	A2ML1	c.2764+1G>A	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9007428G>A	VUS	1 lab	089b5a46c1
2:136669017 DARS1 A>G	2	136669017	136669017	A	G	DARS1	c.977T>C	NM_001293312.1	NP_001280241.1:p.(Leu326Ser)	NC_000002.11:g.136669017A>G	(Likely) pathogenic	1 lab	08a3581a41
2:220501086 SLC4A3 G>A	2	220501086	220501086	G	A	SLC4A3	c.2335G>A	NM_201574.3	NP_963868.3:p.(Val779Ile)	NC_000002.11:g.220501086G>A	VUS	1 lab	08a5560f0e
1:236918452 ACTN2 A>T	1	236918452	236918452	A	T	ACTN2	c.1484A>T	NM_001278344.2	NP_001265273.1:p.(Gln495Leu)	NC_000001.10:g.236918452A>T	VUS	1 lab	08a55f560e
X:148628490 EOLA1 A>T	X	148628490	148628490	A	T	EOLA1	c.459=	NM_001171907.3	NP_001165378.1:p.(Pro153=)	NC_000023.10:g.148628490A>T	(Likely) benign	1 lab	08a6cb6d79
15:48786693 FBN1 C>T	15	48786693	48786693	C	T	FBN1	c.2678-242G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48786693C>T	(Likely) benign	1 lab	08a76ec052
10:55600262 PCDH15 A>C	10	55600262	55600262	A	C	PCDH15	c.3822-6T>G	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55600262A>C	(Likely) benign	1 lab	08aa2b8382
20:13074234 SPTLC3 A>G	20	13074234	13074234	A	G	SPTLC3	c.826+10A>G	NM_001349945.2	NP_001336874.1:p.?	NC_000020.10:g.13074234A>G	(Likely) benign	1 lab	08acabaab7
19:45411171 APOE G>A	19	45411171	45411171	G	A	APOE	c.276G>A	NM_001302688.2	NP_001289617.1:p.(Gln92=)	NC_000019.9:g.45411171G>A	(Likely) benign	1 lab	08afce5f4a
16:81411793 GAN T>A	16	81411793	81411793	T	A	GAN	c.*592T>A	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81411793T>A	(Likely) benign	1 lab	08afdf001d
18:47091703 LIPG C>T	18	47091703	47091703	C	T	LIPG	c.114C>T	NM_006033.4	NP_006024.1:p.(Pro38=)	NC_000018.9:g.47091703C>T	(Likely) benign	1 lab	08b1c38406
15:89859569 FANCI A>C	15	89859569	89859569	A	C	FANCI	c.3925-59A>C	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89859569A>C	(Likely) benign	1 lab	08b1f5ffe7
15:48773863 FBN1 GT>G	15	48773863	48773868	GT	G	FBN1	c.3952del	NM_000138.5	NP_000129.3:p.(Thr1318LeufsTer95)	NC_000015.9:g.48773868del	(Likely) pathogenic	1 lab	08b4345c20
1:201334719 TNNT2 A>G	1	201334719	201334719	A	G	TNNT2	c.264+19T>C	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201334719A>G	(Likely) benign	1 lab	08b6b3e56d
12:109891998 KCTD10 Ref too long to show for this DEL>C	12	109891998	109896983	Ref too long to show for this DEL	C	KCTD10	c.388-1100_723+1924del	NM_031954.5	NP_114160.1:p.?	NC_000012.11:g.109891999_109896983del	VUS	1 lab	08b6d3104c
14:23900812 MYH7 G>A	14	23900812	23900812	G	A	MYH7	c.714C>T	NM_000257.4	NP_000248.2:p.(Asn238=)	NC_000014.8:g.23900812G>A	(Likely) benign	1 lab	08b8735962
11:19207822 CSRP3 T>A	11	19207822	19207822	T	A	CSRP3	c.355A>T	NM_003476.5	NP_003467.1:p.(Lys119Ter)	NC_000011.9:g.19207822T>A	(Likely) pathogenic	1 lab	08bf0c1bc5
1:7797550 CAMTA1 G>A	1	7797550	7797550	G	A	CAMTA1	c.3578G>A	NM_015215.4	NP_056030.1:p.(Trp1193Ter)	NC_000001.10:g.7797550G>A	(Likely) pathogenic	1 lab	08c087d7bb
20:14524316 MACROD2 Ref too long to show for this DEL>G	20	14524316	14582600	Ref too long to show for this DEL	G	MACROD2	c.301+50163_302-82889del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14524317_14582600del	VUS	1 lab	08c4a05d23
X:44929358 KDM6A T>G	X	44929358	44929358	T	G	KDM6A	c.2614T>G	NM_001291415.2	NP_001278344.1:p.(Ser872Ala)	NC_000023.10:g.44929358T>G	VUS	1 lab	08c59b6102
16:88871998 CDT1 G>A	16	88871998	88871998	G	A	CDT1	c.639G>A	NM_030928.4	NP_112190.2:p.(Thr213=)	NC_000016.9:g.88871998G>A	(Likely) benign	1 lab	08d33b327c
10:64573248 EGR2 G>T	10	64573248	64573248	G	T	EGR2	c.1150C>A	NM_000399.5	NP_000390.2:p.(His384Asn)	NC_000010.10:g.64573248G>T	VUS	1 lab	08d35b20ae
9:116053312 PRPF4 A>G	9	116053312	116053312	A	G	PRPF4	c.1375+16A>G	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116053312A>G	(Likely) benign	1 lab	08da2e82ee
15:48738915 FBN1 T>C	15	48738915	48738915	T	C	FBN1	c.5776A>G	NM_000138.5	NP_000129.3:p.(Asn1926Asp)	NC_000015.9:g.48738915T>C	VUS	1 lab	08dd695dd5
9:137703371 COL5A1 C>T	9	137703371	137703371	C	T	COL5A1	c.3616C>T	NM_000093.5	NP_000084.3:p.(Gln1206Ter)	NC_000009.11:g.137703371C>T	(Likely) pathogenic	1 lab	08fd6ae309
9:135158740 SETX A>G	9	135158740	135158740	A	G	SETX	c.6457T>C	NM_015046.7	NP_055861.3:p.(Cys2153Arg)	NC_000009.11:g.135158740A>G	VUS	1 lab	08fdb691aa
18:14688290 MISSING T>Alt too long to show for this DUP	18	14688290	14985470	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.14688293_14985470dup	(Likely) pathogenic	1 lab	09028da3fd
1:210499370 MISSING G>Alt too long to show for this DUP	1	210499370	210641099	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.210499373_210641099dup	VUS	1 lab	0902e18117
13:45762338 GTF2F2 G>Alt too long to show for this DUP	13	45762338	45797723	G	Alt too long to show for this DUP	GTF2F2	c.305-19220_386+16083dup	NM_004128.3	NP_004119.1:p.?	NC_000013.10:g.45762339_45797723dup	VUS	1 lab	0904bb4547
17:7798338 CHD3 A>T	17	7798338	7798338	A	T	CHD3	c.1550A>T	NM_001005271.3	NP_001005271.2:p.(Tyr517Phe)	NC_000017.10:g.7798338A>T	VUS	1 lab	090643f1f2
4:121737639 PRDM5 G>A	4	121737639	121737639	G	A	PRDM5	c.834C>T	NM_018699.4	NP_061169.2:p.(Ala278=)	NC_000004.11:g.121737639G>A	(Likely) benign	1 lab	0909fcc554
1:215823985 USH2A G>A	1	215823985	215823985	G	A	USH2A	c.14292C>T	NM_206933.4	NP_996816.3:p.(Ile4764=)	NC_000001.10:g.215823985G>A	(Likely) benign	1 lab	09104911b8
2:179631184 TTN C>T	2	179631184	179631184	C	T	TTN	c.9627G>A	NM_001267550.2	NP_001254479.2:p.(Glu3209=)	NC_000002.11:g.179631184C>T	(Likely) benign	1 lab	0910c60155
1:12061630 MFN2 G>A	1	12061630	12061630	G	A	MFN2	c.970+19G>A	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12061630G>A	(Likely) benign	1 lab	09165a1316
16:920867 LMF1 C>T	16	920867	920867	C	T	LMF1	c.695G>A	NM_001352018.2	NP_001338947.1:p.(Arg232His)	NC_000016.9:g.920867C>T	VUS	1 lab	0918308996
20:479892 CSNK2A1 ATTATACC>A	20	479892	479901	ATTATACC	A	CSNK2A1	c.366_366+6del	NM_001895.4	NP_001886.1:p.?	NC_000020.10:g.479895_479901del	(Likely) pathogenic	1 lab	0918cad577
10:50822274 CHAT A>G	10	50822274	50822274	A	G	CHAT	c.39A>G	NM_020549.5	NP_065574.4:p.(Gly13=)	NC_000010.10:g.50822274A>G	(Likely) benign	1 lab	0919e08692
2:179449134 TTN C>T	2	179449134	179449134	C	T	TTN	c.65144G>A	NM_001267550.2	NP_001254479.2:p.(Arg21715Gln)	NC_000002.11:g.179449134C>T	VUS	1 lab	091e600631
5:82789647 VCAN A>G	5	82789647	82789647	A	G	VCAN	c.645A>G	NM_004385.5	NP_004376.2:p.(Val215=)	NC_000005.9:g.82789647A>G	(Likely) benign	1 lab	09501016dc
7:151860230 KMT2C G>C	7	151860230	151860230	G	C	KMT2C	c.10432C>G	NM_170606.3	NP_733751.2:p.(Gln3478Glu)	NC_000007.13:g.151860230G>C	(Likely) benign	1 lab	09247d0a6b
1:171799592 MISSING Ref too long to show for this DEL>A	1	171799592	172035480	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.171799594_172035480del	VUS	1 lab	0924c4a819
13:32912582 BRCA2 A>G	13	32912582	32912582	A	G	BRCA2	c.4090A>G	NM_000059.4	NP_000050.3:p.(Ile1364Val)	NC_000013.10:g.32912582A>G	(Likely) benign	1 lab	0926f0f52a
19:11233605 LDLR G>A	19	11233605	11233605	G	A	LDLR	c.2141-245G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233605G>A	(Likely) benign	1 lab	09290bedbe
3:38651358 SCN5A G>A	3	38651358	38651358	G	A	SCN5A	c.801C>T	NM_198056.3	NP_932173.1:p.(Ile267=)	NC_000003.11:g.38651358G>A	(Likely) benign	1 lab	092af3021f
7:100853363 PLOD3 C>T	7	100853363	100853363	C	T	PLOD3	c.1683+11G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853363C>T	(Likely) benign	1 lab	0931782f9f
12:125270894 SCARB1 A>C	12	125270894	125270894	A	C	SCARB1	c.1410T>G	NM_001367981.1	NP_001354910.1:p.(Ala470=)	NC_000012.11:g.125270894A>C	VUS	1 lab	093207bebf
2:44099387 ABCG8 T>C	2	44099387	44099387	T	C	ABCG8	c.1153T>C	NM_022437.3	NP_071882.1:p.(Cys385Arg)	NC_000002.11:g.44099387T>C	VUS	1 lab	0932a8f57f
16:15833895 MYH11 G>A	16	15833895	15833895	G	A	MYH11	c.3018+13C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15833895G>A	(Likely) benign	1 lab	0936de46f1
2:44099634 ABCG8 G>A	2	44099634	44099634	G	A	ABCG8	c.1211+189G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44099634G>A	(Likely) benign	1 lab	093adaf9b7
2:239253193 TRAF3IP1 T>C	2	239253193	239253193	T	C	TRAF3IP1	c.1215T>C	NM_015650.4	NP_056465.2:p.(Ser405=)	NC_000002.11:g.239253193T>C	(Likely) benign	1 lab	093c9bcd4d
1:40769185 COL9A2 C>G	1	40769185	40769185	C	G	COL9A2	c.1548+17G>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769185C>G	(Likely) benign	1 lab	093db182dd
8:145583022 SLC52A2 C>T	8	145583022	145583022	C	T	SLC52A2	c.69C>T	NM_001363118.2	NP_001350047.1:p.(Ser23=)	NC_000008.10:g.145583022C>T	(Likely) benign	1 lab	094179fea9
Y:535117 MISSING C>Alt too long to show for this DUP	Y	535117	797433	C	Alt too long to show for this DUP	MISSING				NC_000024.9:g.535119_797433dup	(Likely) pathogenic	1 lab	0954ed8b89
2:21225046 APOB A>G	2	21225046	21225046	A	G	APOB	c.13248T>C	NM_000384.3	NP_000375.3:p.(Val4416=)	NC_000002.11:g.21225046A>G	(Likely) benign	1 lab	09592e0143
X:70443403 GJB1 A>G	X	70443403	70443403	A	G	GJB1	c.-16-139A>G	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443403A>G	(Likely) benign	1 lab	09598c0460
1:116311119 CASQ2 G>C	1	116311119	116311119	G	C	CASQ2	c.44C>G	NM_001232.4	NP_001223.2:p.(Ser15Cys)	NC_000001.10:g.116311119G>C	VUS	1 lab	095bc89d6b
19:40901532 PRX G>A	19	40901532	40901532	G	A	PRX	c.2727C>T	NM_181882.3	NP_870998.2:p.(Pro909=)	NC_000019.9:g.40901532G>A	(Likely) benign	1 lab	095f3d385a
22:22989680 GGTLC2 G>A	22	22989680	22989680	G	A	GGTLC2	c.532G>A	NM_001282879.1	NP_001269808.1:p.(Val178Met)	NC_000022.10:g.22989680G>A	(Likely) benign	1 lab	0960fa1a80
6:157099871 ARID1B TCCG>T	6	157099871	157099886	TCCG	T	ARID1B	c.1070_1072del	NM_001371656.1	NP_001358585.1:p.(Ala357del)	NC_000006.11:g.157099884_157099886del	(Likely) benign	1 lab	0964b6ceae
7:103629803 RELN TGCCGCCGCCGCC>T	7	103629803	103629829	TGCCGCCGCCGCC	T	RELN	c.-12_-1del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629818_103629829del	(Likely) benign	1 lab	0967adc390
1:11194400 MTOR G>C	1	11194400	11194400	G	C	MTOR	c.5246+8C>G	NM_001386500.1	NP_001373429.1:p.?	NC_000001.10:g.11194400G>C	(Likely) benign	1 lab	09722e22fe
8:144990644 PLEC C>T	8	144990644	144990644	C	T	PLEC	c.13756G>A	NM_201380.4	NP_958782.1:p.(Ala4586Thr)	NC_000008.10:g.144990644C>T	VUS	1 lab	097aef65e2
17:51867057 MISSING Ref too long to show for this DEL>C	17	51867057	51929227	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.51867058_51929227del	VUS	1 lab	097b3b889c
2:233272096 ALPG C>T	2	233272096	233272096	C	T	ALPG	c.285C>T	NM_031313.3	NP_112603.2:p.(Tyr95=)	NC_000002.11:g.233272096C>T	(Likely) benign	1 lab	097b972d3c
12:40836981 MUC19 A>C	12	40836981	40836981	A	C	MUC19	c.4016A>C	NM_173600.2	NP_775871.2:p.(Gln1339Pro)	NC_000012.11:g.40836981A>C	(Likely) benign	1 lab	097de8a6f1
6:75890637 COL12A1 G>T	6	75890637	75890637	G	T	COL12A1	c.2164+18C>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890637G>T	(Likely) benign	1 lab	097e40cb81
2:179639851 TTN C>T	2	179639851	179639851	C	T	TTN	c.6587G>A	NM_133378.4	NP_596869.4:p.(Cys2196Tyr)	NC_000002.11:g.179639851C>T	VUS	1 lab	097f7c4865
2:179578026 TTN C>T	2	179578026	179578026	C	T	TTN	c.26835G>A	NM_001267550.2	NP_001254479.2:p.(Met8945Ile)	NC_000002.11:g.179578026C>T	VUS	1 lab	098dec484b
17:48271833 COL1A1 A>T	17	48271833	48271833	A	T	COL1A1	c.1516-25T>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48271833A>T	(Likely) benign	1 lab	098e3f5f78
1:40769978 COL9A2 G>T	1	40769978	40769978	G	T	COL9A2	c.1287+14C>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769978G>T	(Likely) benign	1 lab	098e67750a
11:47372128 MYBPC3 CA>C	11	47372128	47372129	CA	C	MYBPC3	c.330del	NM_000256.3	NP_000247.2:p.(Ala111LeufsTer48)	NC_000011.9:g.47372129del	(Likely) pathogenic	1 lab	0990cc15ff
12:125270729 SCARB1 A>G	12	125270729	125270729	A	G	SCARB1	c.1575T>C	NM_001367981.1	NP_001354910.1:p.(Leu525=)	NC_000012.11:g.125270729A>G	(Likely) benign	1 lab	0993efa869
10:27702893 PTCHD3 AGGGGTGCATCGTCCAGCTCCAGCGGCAGGC>A	10	27702893	27702940	AGGGGTGCATCGTCCAGCTCCAGCGGCAGGC	A	PTCHD3	c.257_286del	NM_001034842.4	NP_001030014.2:p.(Arg86_Pro95del)	NC_000010.10:g.27702911_27702940del	(Likely) benign	1 lab	099462d130
1:180243558 LHX4 C>G	1	180243558	180243558	C	G	LHX4	c.1017C>G	NM_033343.4	NP_203129.1:p.(Gly339=)	NC_000001.10:g.180243558C>G	(Likely) benign	1 lab	0995f0c8bd
1:74715230 TNNI3K T>A	1	74715230	74715230	T	A	TNNI3K	c.235+2T>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74715230T>A	VUS	1 lab	099c0c1a35
16:16256934 ABCC6 C>T	16	16256934	16256934	C	T	ABCC6	c.3080G>A	NM_001351800.1	NP_001338729.1:p.(Arg1027Gln)	NC_000016.9:g.16256934C>T	(Likely) benign	1 lab	099e56e864
1:161277104 MPZ C>G	1	161277104	161277104	C	G	MPZ	c.178G>C	NM_000530.8	NP_000521.2:p.(Asp60His)	NC_000001.10:g.161277104C>G	(Likely) pathogenic	1 lab	09a0a60c40
6:16131297 MYLIP G>C	6	16131297	16131297	G	C	MYLIP	c.278+319G>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131297G>C	(Likely) benign	1 lab	09a21e41d7
9:141008661 MISSING G>Alt too long to show for this DUP	9	141008661	141074053	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.141008663_141074053dup	(Likely) pathogenic	1 lab	09a4ab6d66
2:179419710 TTN G>C	2	179419710	179419710	G	C	TTN	c.88476C>G	NM_001267550.2	NP_001254479.2:p.(Thr29492=)	NC_000002.11:g.179419710G>C	(Likely) benign	1 lab	09a97754d4
5:37148318 CPLANE1 G>GT	5	37148318	37148325	G	GT	CPLANE1	c.8263dup	NM_023073.4	NP_075561.3:p.(Thr2755AsnfsTer8)	NC_000005.9:g.37148325dup	(Likely) pathogenic	1 lab	09ad3c9962
1:74808525 TNNI3K G>A	1	74808525	74808525	G	A	TNNI3K	c.683-1G>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74808525G>A	VUS	1 lab	09f00f1340
19:55316411 KIR2DL4 C>G	19	55316411	55316411	C	G	KIR2DL4	c.240C>G	NM_001080772.2	NP_001074241.1:p.(Asn80Lys)	NC_000019.9:g.55316411C>G	(Likely) benign	1 lab	09b7c134bf
9:137674717 COL5A1 G>A	9	137674717	137674717	G	A	COL5A1	c.2484+151G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674717G>A	(Likely) benign	1 lab	09c124965a
8:24813762 NEFL C>T	8	24813762	24813762	C	T	NEFL	c.268G>A	NM_006158.5	NP_006149.2:p.(Glu90Lys)	NC_000008.10:g.24813762C>T	(Likely) pathogenic	1 lab	09c2b30cb1
1:236883475 ACTN2 G>GT	1	236883475	236883476	G	GT	ACTN2	c.432_433insT	NM_001103.4	NP_001094.1:p.(Asp145Ter)	NC_000001.10:g.236883475_236883476insT	VUS	1 lab	09cae1c010
14:88459461 GALC A>G	14	88459461	88459461	A	G	GALC	c.48T>C	NM_000153.4	NP_000144.2:p.(Ala16=)	NC_000014.8:g.88459461A>G	(Likely) benign	1 lab	09d380ccf4
6:32489889 HLA-DRB5 A>T	6	32489889	32489889	A	T	HLA-DRB5	c.163T>A	NM_002125.4	NP_002116.2:p.(Phe55Ile)	NC_000006.11:g.32489889A>T	(Likely) benign	1 lab	09d444a9a8
16:57003846 CETP C>G	16	57003846	57003846	C	G	CETP	c.460C>G	NM_000078.3	NP_000069.2:p.(Arg154Gly)	NC_000016.9:g.57003846C>G	VUS	1 lab	09d55c5b53
8:75272409 GDAP1 G>GT	8	75272409	75272410	G	GT	GDAP1	c.349dup	NM_018972.4	NP_061845.2:p.(Tyr117LeufsTer13)	NC_000008.10:g.75272410dup	(Likely) pathogenic	1 lab	09d5d8799f
1:235422064 MISSING T>Alt too long to show for this DUP	1	235422064	235716261	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.235422065_235716261dup	VUS	1 lab	09d97cabca
21:33038751 SOD1 C>T	21	33038751	33038751	C	T	SOD1	c.170-11C>T	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33038751C>T	(Likely) benign	1 lab	09de0fed97
19:6709705 C3 G>A	19	6709705	6709705	G	A	C3	c.1835C>T	NM_000064.4	NP_000055.2:p.(Thr612Met)	NC_000019.9:g.6709705G>A	VUS	1 lab	09e42930da
4:100510491 MTTP G>T	4	100510491	100510491	G	T	MTTP	c.394-309G>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510491G>T	(Likely) benign	1 lab	09e6a6f3e8
1:25889597 LDLRAP1 G>C	1	25889597	25889597	G	C	LDLRAP1	c.569G>C	NM_015627.3	NP_056442.2:p.(Gly190Ala)	NC_000001.10:g.25889597G>C	VUS	1 lab	09ee6de34c
2:179478996 TTN G>A	2	179478996	179478996	G	A	TTN	c.49128C>T	NM_001267550.2	NP_001254479.2:p.(Arg16376=)	NC_000002.11:g.179478996G>A	(Likely) benign	1 lab	09f2841bc9
12:124354954 DNAH10 C>T	12	124354954	124354954	C	T	DNAH10	c.7207C>T	NM_207437.3	NP_997320.2:p.(Arg2403Trp)	NC_000012.11:g.124354954C>T	(Likely) benign	1 lab	09f5a666c2
1:200959295 KIF21B C>T	1	200959295	200959295	C	T	KIF21B	c.3001G>A	NM_001252100.2	NP_001239029.1:p.(Ala1001Thr)	NC_000001.10:g.200959295C>T	VUS	1 lab	09f73fe508
3:38951596 SCN11A C>T	3	38951596	38951596	C	T	SCN11A	c.1062G>A	NM_014139.3	NP_054858.2:p.(Arg354=)	NC_000003.11:g.38951596C>T	(Likely) benign	1 lab	09f7b44da7
1:156104702 LMNA G>A	1	156104702	156104702	G	A	LMNA	c.746G>A	NM_170707.4	NP_733821.1:p.(Arg249Gln)	NC_000001.10:g.156104702G>A	(Likely) pathogenic	1 lab	09facd962a
2:124649798 MISSING T>Alt too long to show for this DUP	2	124649798	125085600	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.124649799_125085600dup	VUS	1 lab	0a003755aa
6:163129663 MISSING T>Alt too long to show for this DUP	6	163129663	163294733	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.163129664_163294733dup	VUS	1 lab	0a02ff0ab7
2:21228984 APOB T>G	2	21228984	21228984	T	G	APOB	c.10756A>C	NM_000384.3	NP_000375.3:p.(Lys3586Gln)	NC_000002.11:g.21228984T>G	VUS	1 lab	0a0631c9f8
9:25615150 MISSING Ref too long to show for this DEL>A	9	25615150	25795818	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.25615152_25795818del	VUS	1 lab	0a06707b6d
7:81641553 CACNA2D1 A>G	7	81641553	81641553	A	G	CACNA2D1	c.1279T>C	NM_000722.4	NP_000713.2:p.(Leu427=)	NC_000007.13:g.81641553A>G	(Likely) benign	1 lab	0a0679bf69
8:19809261 LPL CT>C	8	19809261	19809263	CT	C	LPL	c.250-17del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809263del	(Likely) benign	1 lab	0a084e7d71
12:125348223 SCARB1 C>T	12	125348223	125348223	C	T	SCARB1	c.44G>A	NM_001367981.1	NP_001354910.1:p.(Gly15Asp)	NC_000012.11:g.125348223C>T	VUS	1 lab	0a0faf133c
7:128491573 FLNC TG>T	7	128491573	128491575	TG	T	FLNC	c.5735del	NM_001458.5	NP_001449.3:p.(Gly1912AlafsTer41)	NC_000007.13:g.128491575del	(Likely) pathogenic	1 lab	0a124aafe0
6:7568393 DSP CAA>C	6	7568393	7568395	CAA	C	DSP	c.1266+255_1266+256del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568394_7568395del	(Likely) benign	1 lab	0a16ce59b4
10:124564718 MISSING A>Alt too long to show for this DUP	10	124564718	125421780	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.124564720_125421780dup	VUS	1 lab	0a1c9d02f1
19:45412524 APOE C>T	19	45412524	45412524	C	T	APOE	c.*17C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45412524C>T	VUS	1 lab	0a1ceca158
14:102484930 DYNC1H1 G>C	14	102484930	102484930	G	C	DYNC1H1	c.8320G>C	NM_001376.5	NP_001367.2:p.(Val2774Leu)	NC_000014.8:g.102484930G>C	(Likely) pathogenic	1 lab	0a267571b8
12:32945392 PKP2 C>T	12	32945392	32945392	C	T	PKP2	c.2612G>A	NM_004572.4	NP_004563.2:p.(Arg871Gln)	NC_000012.11:g.32945392C>T	VUS	1 lab	0a26e2073f
15:58736733 LIPC T>C	15	58736733	58736733	T	C	LIPC	c.88+12414T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58736733T>C	(Likely) benign	1 lab	0a28d9922c
6:137193383 PEX7 T>C	6	137193383	137193383	T	C	PEX7	c.795T>C	NM_000288.4	NP_000279.1:p.(Phe265=)	NC_000006.11:g.137193383T>C	(Likely) benign	1 lab	0a2f0d5619
11:113902058 MISSING C>Alt too long to show for this DUP	11	113902058	114104494	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.113902059_114104494dup	(Likely) pathogenic	1 lab	0a300515f5
14:51099067 ATL1 T>C	14	51099067	51099067	T	C	ATL1	c.*10T>C	NM_001127713.1	NP_001121185.1:p.?	NC_000014.8:g.51099067T>C	(Likely) benign	1 lab	0a319f3429
5:151228252 MISSING Ref too long to show for this DEL>C	5	151228252	151558198	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.151228253_151558198del	VUS	1 lab	0a31f37183
6:29911895 HLA-A T>A	6	29911895	29911895	T	A	HLA-A	c.620-4T>A	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29911895T>A	(Likely) benign	1 lab	0a34489652
14:23893305 MYH7 G>A	14	23893305	23893305	G	A	MYH7	c.2733C>T	NM_000257.4	NP_000248.2:p.(Asn911=)	NC_000014.8:g.23893305G>A	(Likely) benign	1 lab	0a348fb9d4
2:21255233 APOB C>G	2	21255233	21255233	C	G	APOB	c.1345G>C	NM_000384.3	NP_000375.3:p.(Val449Leu)	NC_000002.11:g.21255233C>G	(Likely) benign	1 lab	0a37b64884
16:921768 LMF1 A>G	16	921768	921768	A	G	LMF1	c.499-427T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921768A>G	(Likely) benign	1 lab	0a3af697bc
12:2711133 CACNA1C G>C	12	2711133	2711133	G	C	CACNA1C	c.3020+7G>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2711133G>C	(Likely) benign	1 lab	0a3ba3ff19
X:31645955 DMD C>T	X	31645955	31645955	C	T	DMD	c.7683G>A	NM_004010.3	NP_004001.1:p.(Leu2561=)	NC_000023.10:g.31645955C>T	(Likely) benign	1 lab	0a3c7fe476
4:122766731 BBS7 T>C	4	122766731	122766731	T	C	BBS7	c.1158A>G	NM_176824.3	NP_789794.1:p.(Thr386=)	NC_000004.11:g.122766731T>C	(Likely) benign	1 lab	0a41ac918c
15:98441231 MISSING Ref too long to show for this DEL>C	15	98441231	102521392	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.98441232_102521392del	(Likely) pathogenic	1 lab	0a469629cf
16:57015075 CETP C>T	16	57015075	57015075	C	T	CETP	c.1152C>T	NM_000078.3	NP_000069.2:p.(Ile384=)	NC_000016.9:g.57015075C>T	(Likely) benign	1 lab	0a469feb9a
16:88499575 ZNF469 C>T	16	88499575	88499575	C	T	ZNF469	c.5697C>T	NM_001367624.2	NP_001354553.1:p.(Ser1899=)	NC_000016.9:g.88499575C>T	(Likely) benign	1 lab	0a4ee1140c
16:11643350 LITAF G>A	16	11643350	11643350	G	A	LITAF	n.763C>T	NR_024320.2		NC_000016.9:g.11643350G>A	(Likely) benign	1 lab	0a516253bd
4:100540226 MTTP T>C	4	100540226	100540226	T	C	MTTP	c.2313T>C	NM_000253.4	NP_000244.2:p.(Tyr771=)	NC_000004.11:g.100540226T>C	(Likely) benign	1 lab	0a57a7c4e2
1:12056281 MFN2 G>A	1	12056281	12056281	G	A	MFN2	c.380G>A	NM_014874.4	NP_055689.1:p.(Gly127Asp)	NC_000001.10:g.12056281G>A	(Likely) pathogenic	1 lab	0a5a7ae369
4:39269727 WDR19 G>A	4	39269727	39269727	G	A	WDR19	c.3358+16G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39269727G>A	(Likely) benign	1 lab	0a62384d18
12:21325665 SLCO1B1 G>A	12	21325665	21325665	G	A	SLCO1B1	c.166G>A	NM_006446.5	NP_006437.3:p.(Glu56Lys)	NC_000012.11:g.21325665G>A	(Likely) benign	1 lab	0a63d3778b
12:27799008 PPFIBP1 T>G	12	27799008	27799008	T	G	PPFIBP1	c.284T>G	NM_177444.3	NP_803193.3:p.(Leu95Arg)	NC_000012.11:g.27799008T>G	(Likely) benign	1 lab	0a659fdcee
19:45412043 APOE A>C	19	45412043	45412043	A	C	APOE	c.568A>C	NM_001302688.2	NP_001289617.1:p.(Lys190Gln)	NC_000019.9:g.45412043A>C	(Likely) pathogenic	1 lab	0a6636a1a4
2:179595116 TTN A>G	2	179595116	179595116	A	G	TTN	c.18029-18T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595116A>G	(Likely) benign	1 lab	0a6a292284
X:70444105 GJB1 G>A	X	70444105	70444105	G	A	GJB1	c.548G>A	NM_000166.6	NP_000157.1:p.(Arg183His)	NC_000023.10:g.70444105G>A	(Likely) pathogenic	1 lab	0a6f869ba8
9:113166697 SVEP1 T>A	9	113166697	113166697	T	A	SVEP1	c.9576A>T	NM_153366.4	NP_699197.3:p.(Val3192=)	NC_000009.11:g.113166697T>A	(Likely) benign	1 lab	0a80a57060
2:44058897 ABCG5 G>T	2	44058897	44058897	G	T	ABCG5	c.501+11C>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44058897G>T	(Likely) benign	1 lab	0a84edf0e5
13:32900418 BRCA2 A>G	13	32900418	32900418	A	G	BRCA2	c.515A>G	NM_000059.4	NP_000050.3:p.(Lys172Arg)	NC_000013.10:g.32900418A>G	VUS	1 lab	0a894b688e
19:1399566 GAMT C>T	19	1399566	1399566	C	T	GAMT	c.348G>A	NM_138924.3	NP_620279.1:p.(Leu116=)	NC_000019.9:g.1399566C>T	(Likely) benign	1 lab	0a8c136167
5:37125364 CPLANE1 G>A	5	37125364	37125364	G	A	CPLANE1	c.8778C>T	NM_023073.4	NP_075561.3:p.(Phe2926=)	NC_000005.9:g.37125364G>A	(Likely) benign	1 lab	0a923c6342
8:19818026 LPL A>G	8	19818026	19818026	A	G	LPL	c.1140-386A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818026A>G	(Likely) benign	1 lab	0a932a0563
12:21325668 SLCO1B1 C>T	12	21325668	21325668	C	T	SLCO1B1	c.169C>T	NM_006446.5	NP_006437.3:p.(Arg57Trp)	NC_000012.11:g.21325668C>T	(Likely) benign	1 lab	0a948c12eb
1:3347649 PRDM16 C>T	1	3347649	3347649	C	T	PRDM16	c.3498C>T	NM_022114.4	NP_071397.3:p.(Ala1166=)	NC_000001.10:g.3347649C>T	(Likely) benign	1 lab	0a95c982fc
3:138258161 MISSING Ref too long to show for this DEL>T	3	138258161	138330031	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.138258163_138330031del	VUS	1 lab	0a98bf2844
15:58852914 LIPC C>G	15	58852914	58852914	C	G	LIPC	c.1052-149C>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852914C>G	(Likely) benign	1 lab	0a9d53067c
1:228345904 GJC2 G>A	1	228345904	228345904	G	A	GJC2	c.445G>A	NM_020435.4	NP_065168.2:p.(Gly149Ser)	NC_000001.10:g.228345904G>A	(Likely) benign	1 lab	0a9e821f15
2:44053589 ABCG5 C>G	2	44053589	44053589	C	G	ABCG5	c.706G>C	NM_022436.3	NP_071881.1:p.(Val236Leu)	NC_000002.11:g.44053589C>G	VUS	1 lab	0aa118502f
12:2602429 CACNA1C G>A	12	2602429	2602429	G	A	CACNA1C	c.990G>A	NM_199460.4	NP_955630.3:p.(Thr330=)	NC_000012.11:g.2602429G>A	(Likely) benign	1 lab	0aa63d9258
9:137694781 COL5A1 G>T	9	137694781	137694781	G	T	COL5A1	c.3054G>T	NM_000093.5	NP_000084.3:p.(Gly1018=)	NC_000009.11:g.137694781G>T	(Likely) benign	1 lab	0ab08dc4a1
X:31893307 DMD T>G	X	31893307	31893307	T	G	DMD	c.7096A>C	NM_004006.3	NP_003997.2:p.(Lys2366Gln)	NC_000023.10:g.31893307T>G	(Likely) benign	1 lab	0ab092ae89
12:122248114 SETD1B G>A	12	122248114	122248114	G	A	SETD1B	c.1263G>A	NM_001353345.2	NP_001340274.1:p.(Gly421=)	NC_000012.11:g.122248114G>A	(Likely) benign	1 lab	0ab4f49690
X:70443659 GJB1 G>A	X	70443659	70443659	G	A	GJB1	c.102G>A	NM_000166.6	NP_000157.1:p.(Met34Ile)	NC_000023.10:g.70443659G>A	VUS	1 lab	0abcc2ddcb
11:48177349 PTPRJ A>G	11	48177349	48177349	A	G	PTPRJ	c.3230-4A>G	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48177349A>G	(Likely) benign	1 lab	0ac5fedfb6
1:55525301 PCSK9 G>A	1	55525301	55525301	G	A	PCSK9	c.1646G>A	NM_174936.4	NP_777596.2:p.(Arg549His)	NC_000001.10:g.55525301G>A	VUS	1 lab	0acb5fcb44
9:107555502 ABCA1 C>T	9	107555502	107555502	C	T	ABCA1	c.5586G>A	NM_005502.4	NP_005493.2:p.(Val1862=)	NC_000009.11:g.107555502C>T	(Likely) benign	1 lab	0ad0089258
11:17545029 USH1C G>A	11	17545029	17545029	G	A	USH1C	c.760-4C>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17545029G>A	(Likely) benign	1 lab	0b50b8e837
X:53565714 HUWE1 C>Alt too long to show for this DUP	X	53565714	53611199	C	Alt too long to show for this DUP	HUWE1	c.5108_11878+81dup	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53565715_53611199dup	VUS	1 lab	0ad21b8f75
11:108498707 MISSING Ref too long to show for this DEL>G	11	108498707	112074390	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.108498709_112074390del	(Likely) pathogenic	1 lab	0ad5e2edc5
14:36986822 NKX2-1 C>T	14	36986822	36986822	C	T	NKX2-1	c.777G>A	NM_003317.4	NP_003308.1:p.(Ala259=)	NC_000014.8:g.36986822C>T	(Likely) benign	1 lab	0aebf48004
15:48789579 FBN1 T>C	15	48789579	48789579	T	C	FBN1	c.2177A>G	NM_000138.5	NP_000129.3:p.(Glu726Gly)	NC_000015.9:g.48789579T>C	(Likely) pathogenic	1 lab	0af58ecade
19:11224931 LDLR C>T	19	11224931	11224931	C	T	LDLR	c.1586+493C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224931C>T	(Likely) benign	1 lab	0af8d18d50
10:89725293 PTEN CT>C	10	89725293	89725304	CT	C	PTEN	c.*75del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89725304del	(Likely) benign	1 lab	0af9f897e8
18:2656063 SMCHD1 C>T	18	2656063	2656063	C	T	SMCHD1	c.-12C>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2656063C>T	(Likely) benign	1 lab	0afea1ace3
7:73449750 ELN G>A	7	73449750	73449750	G	A	ELN	c.133+6G>A	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73449750G>A	(Likely) benign	1 lab	0aff64701e
12:125270820 SCARB1 C>A	12	125270820	125270820	C	A	SCARB1	c.1484G>T	NM_001367981.1	NP_001354910.1:p.(Trp495Leu)	NC_000012.11:g.125270820C>A	VUS	1 lab	0b0221e6f6
9:107564570 ABCA1 CAG>C	9	107564570	107564575	CAG	C	ABCA1	c.4593-132_4593-131del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564574_107564575del	(Likely) benign	1 lab	0b0256da56
14:23866195 MYH6 G>T	14	23866195	23866195	G	T	MYH6	c.2145C>A	NM_002471.4	NP_002462.2:p.(Ile715=)	NC_000014.8:g.23866195G>T	(Likely) benign	1 lab	0b03be4a9b
18:47093937 LIPG C>T	18	47093937	47093937	C	T	LIPG	c.405C>T	NM_006033.4	NP_006024.1:p.(Val135=)	NC_000018.9:g.47093937C>T	(Likely) benign	1 lab	0b0baa871a
1:115829203 NGF C>T	1	115829203	115829203	C	T	NGF	c.214G>A	NM_002506.3	NP_002497.2:p.(Val72Met)	NC_000001.10:g.115829203C>T	(Likely) benign	1 lab	0b0bd860b1
21:47686037 MCM3AP A>C	21	47686037	47686037	A	C	MCM3AP	c.2833T>G	NM_003906.5	NP_003897.2:p.(Leu945Val)	NC_000021.8:g.47686037A>C	(Likely) benign	1 lab	0b15eceb7c
19:11231215 LDLR G>A	19	11231215	11231215	G	A	LDLR	c.2140+17G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231215G>A	(Likely) benign	1 lab	0b20c59cc0
5:97995371 MISSING C>Alt too long to show for this DUP	5	97995371	98172592	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.97995373_98172592dup	VUS	1 lab	0b25eecb1a
X:135960119 RBMX C>T	X	135960119	135960119	C	T	RBMX	c.343G>A	NM_002139.4	NP_002130.2:p.(Gly115Arg)	NC_000023.10:g.135960119C>T	(Likely) benign	1 lab	0b2a77b778
X:64738168 LAS1L G>A	X	64738168	64738168	G	A	LAS1L	c.1626C>T	NM_031206.7	NP_112483.1:p.(Ala542=)	NC_000023.10:g.64738168G>A	(Likely) benign	1 lab	0b310295a4
16:920002 LMF1 C>T	16	920002	920002	C	T	LMF1	c.898G>A	NM_001352018.2	NP_001338947.1:p.(Asp300Asn)	NC_000016.9:g.920002C>T	VUS	1 lab	0b324da441
14:23852452 MYH6 C>T	14	23852452	23852452	C	T	MYH6	c.5643G>A	NM_002471.4	NP_002462.2:p.(Lys1881=)	NC_000014.8:g.23852452C>T	(Likely) benign	1 lab	0b352523ae
18:25570090 CDH2 G>A	18	25570090	25570090	G	A	CDH2	c.1569C>T	NM_001792.5	NP_001783.2:p.(Asp523=)	NC_000018.9:g.25570090G>A	(Likely) benign	1 lab	0b3670351a
5:149771589 TCOF1 A>G	5	149771589	149771589	A	G	TCOF1	c.3367A>G	NM_001135243.2	NP_001128715.1:p.(Asn1123Asp)	NC_000005.9:g.149771589A>G	VUS	1 lab	0b3d441bd2
17:14063244 COX10 G>T	17	14063244	14063244	G	T	COX10	c.675G>T	NM_001303.4	NP_001294.2:p.(Pro225=)	NC_000017.10:g.14063244G>T	(Likely) benign	1 lab	0b40f8a853
3:49311476 MISSING A>Alt too long to show for this DUP	3	49311476	50138111	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.49311477_50138111dup	VUS	1 lab	0b4839d247
14:102474668 DYNC1H1 G>A	14	102474668	102474668	G	A	DYNC1H1	c.5971G>A	NM_001376.5	NP_001367.2:p.(Asp1991Asn)	NC_000014.8:g.102474668G>A	(Likely) benign	1 lab	0b49871b15
20:42788581 JPH2 A>G	20	42788581	42788581	A	G	JPH2	c.846T>C	NM_020433.5	NP_065166.2:p.(Asp282=)	NC_000020.10:g.42788581A>G	(Likely) benign	1 lab	0b4997921d
13:96443194 DNAJC3 C>A	13	96443194	96443194	C	A	DNAJC3	c.1425C>A	NM_006260.5	NP_006251.1:p.(Gly475=)	NC_000013.10:g.96443194C>A	(Likely) benign	1 lab	0b5007345e
9:139390958 NOTCH1 T>C	9	139390958	139390958	T	C	NOTCH1	c.7233A>G	NM_017617.5	NP_060087.3:p.(Pro2411=)	NC_000009.11:g.139390958T>C	(Likely) benign	1 lab	0b541fbe1f
1:5924557 NPHP4 G>A	1	5924557	5924557	G	A	NPHP4	c.3837C>T	NM_015102.5	NP_055917.1:p.(Phe1279=)	NC_000001.10:g.5924557G>A	(Likely) benign	1 lab	0b581c459a
2:21235429 APOB G>C	2	21235429	21235429	G	C	APOB	c.4311C>G	NM_000384.3	NP_000375.3:p.(Phe1437Leu)	NC_000002.11:g.21235429G>C	VUS	1 lab	0b5c234f79
13:39518158 MISSING Ref too long to show for this DEL>C	13	39518158	39550753	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.39518159_39550753del	VUS	1 lab	0b67453a4d
18:25727748 CDH2 C>T	18	25727748	25727748	C	T	CDH2	c.61G>A	NM_001792.5	NP_001783.2:p.(Ala21Thr)	NC_000018.9:g.25727748C>T	(Likely) benign	1 lab	0b680d59fd
2:73677545 ALMS1 C>A	2	73677545	73677545	C	A	ALMS1	c.3894C>A	NM_015120.4	NP_055935.4:p.(Tyr1298Ter)	NC_000002.11:g.73677545C>A	(Likely) pathogenic	1 lab	0b6930b16a
9:19253054 MISSING T>Alt too long to show for this DUP	9	19253054	19564333	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.19253056_19564333dup	VUS	1 lab	0b6acb4ea8
X:114869313 PLS3 A>T	X	114869313	114869313	A	T	PLS3	c.703A>T	NM_005032.7	NP_005023.2:p.(Ile235Phe)	NC_000023.10:g.114869313A>T	(Likely) pathogenic	1 lab	0b6c538484
1:3322344 PRDM16 C>T	1	3322344	3322344	C	T	PRDM16	c.1186+132C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3322344C>T	VUS	1 lab	0b6d919681
2:21235291 APOB T>C	2	21235291	21235291	T	C	APOB	c.4449A>G	NM_000384.3	NP_000375.3:p.(Glu1483=)	NC_000002.11:g.21235291T>C	(Likely) benign	1 lab	0b75dfd624
16:46744668 MYLK3 T>C	16	46744668	46744668	T	C	MYLK3	c.2148A>G	NM_182493.3	NP_872299.2:p.(Thr716=)	NC_000016.9:g.46744668T>C	(Likely) benign	1 lab	0b80034408
4:25160732 SEPSECS TAA>T	4	25160732	25160747	TAA	T	SEPSECS	c.115-5_115-4del	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25160746_25160747del	(Likely) benign	1 lab	0b836c3543
15:85399996 ALPK3 CAGGT>C	15	85399996	85400000	CAGGT	C	ALPK3	c.2028_2031del	NM_020778.5	NP_065829.4:p.(Gly677ArgfsTer74)	NC_000015.9:g.85399997_85400000del	(Likely) pathogenic	1 lab	0b84072080
9:135152543 SETX TA>T	9	135152543	135152555	TA	T	SETX	c.6843-5del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135152555del	(Likely) benign	1 lab	0b86013608
12:21355448 SLCO1B1 G>A	12	21355448	21355448	G	A	SLCO1B1	c.1159G>A	NM_006446.5	NP_006437.3:p.(Ala387Thr)	NC_000012.11:g.21355448G>A	(Likely) benign	1 lab	0b88913ab5
1:155408532 ASH1L C>A	1	155408532	155408532	C	A	ASH1L	c.5414G>T	NM_001366177.2	NP_001353106.1:p.(Arg1805Leu)	NC_000001.10:g.155408532C>A	VUS	1 lab	0b89018274
18:47095857 LIPG C>T	18	47095857	47095857	C	T	LIPG	c.510C>T	NM_006033.4	NP_006024.1:p.(Leu170=)	NC_000018.9:g.47095857C>T	(Likely) benign	1 lab	0b8d2a525a
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+26_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948348_133948371dup	(Likely) benign	1 lab	0b8dc9cbc3
2:27706487 IFT172 T>C	2	27706487	27706487	T	C	IFT172	c.442A>G	NM_015662.3	NP_056477.1:p.(Ile148Val)	NC_000002.11:g.27706487T>C	VUS	1 lab	0b8ecc1f95
19:36212127 KMT2B A>C	19	36212127	36212127	A	C	KMT2B	c.1878A>C	NM_014727.3	NP_055542.1:p.(Pro626=)	NC_000019.9:g.36212127A>C	(Likely) benign	1 lab	0b8f3e45ea
12:32974301 PKP2 C>A	12	32974301	32974301	C	A	PKP2	c.2134G>T	NM_004572.4	NP_004563.2:p.(Gly712Ter)	NC_000012.11:g.32974301C>A	(Likely) pathogenic	1 lab	0b9035fbd8
9:3949030 GLIS3 Ref too long to show for this DEL>A	9	3949030	4152987	Ref too long to show for this DEL	A	GLIS3	c.389-27046_1711-11842del	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.3949031_4152987del	VUS	1 lab	0b97b18304
8:100205203 VPS13B A>T	8	100205203	100205203	A	T	VPS13B	c.2433A>T	NM_017890.5	NP_060360.3:p.(Ile811=)	NC_000008.10:g.100205203A>T	(Likely) benign	1 lab	0b99eca1ba
1:55119193 MROH7 A>G	1	55119193	55119193	A	G	MROH7	c.594A>G	NM_001039464.4	NP_001034553.3:p.(Ser198=)	NC_000001.10:g.55119193A>G	(Likely) benign	1 lab	0b9df457ba
12:125295028 SCARB1 C>T	12	125295028	125295028	C	T	SCARB1	c.727-193G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125295028C>T	(Likely) benign	1 lab	0b9f80d7de
6:112471796 LAMA4 C>T	6	112471796	112471796	C	T	LAMA4	c.2069G>A	NM_002290.5	NP_002281.3:p.(Arg690His)	NC_000006.11:g.112471796C>T	VUS	1 lab	0ba111ff66
9:107594026 ABCA1 T>C	9	107594026	107594026	T	C	ABCA1	c.1592A>G	NM_005502.4	NP_005493.2:p.(Lys531Arg)	NC_000009.11:g.107594026T>C	VUS	1 lab	0babb37479
5:138269579 CTNNA1 C>A	5	138269579	138269579	C	A	CTNNA1	c.2522C>A	NM_001903.5	NP_001894.2:p.(Thr841Asn)	NC_000005.9:g.138269579C>A	VUS	1 lab	0badf0b7f9
7:138566205 KIAA1549 C>T	7	138566205	138566205	C	T	KIAA1549	c.4158G>A	NM_020910.3	NP_065961.2:p.(Thr1386=)	NC_000007.13:g.138566205C>T	(Likely) benign	1 lab	0bb2e899c2
2:179606078 TTN A>T	2	179606078	179606078	A	T	TTN	c.10931T>A	NM_001256850.1	NP_001243779.1:p.(Val3644Glu)	NC_000002.11:g.179606078A>T	VUS	1 lab	0bb6c3e1ab
15:85383391 ALPK3 C>T	15	85383391	85383391	C	T	ALPK3	c.881C>T	NM_020778.5	NP_065829.4:p.(Thr294Ile)	NC_000015.9:g.85383391C>T	VUS	1 lab	0bbc468cbf
2:21231075 APOB A>C	2	21231075	21231075	A	C	APOB	c.8665T>G	NM_000384.3	NP_000375.3:p.(Tyr2889Asp)	NC_000002.11:g.21231075A>C	VUS	1 lab	0bc74debea
X:99890572 TSPAN6 C>T	X	99890572	99890572	C	T	TSPAN6	c.259G>A	NM_003270.4	NP_003261.1:p.(Ala87Thr)	NC_000023.10:g.99890572C>T	(Likely) benign	1 lab	0bcaa839e6
10:112541394 RBM20 C>T	10	112541394	112541394	C	T	RBM20	c.1027C>T	NM_001134363.3	NP_001127835.2:p.(His343Tyr)	NC_000010.10:g.112541394C>T	VUS	1 lab	0bd6c98ece
11:121444958 SORL1 A>G	11	121444958	121444958	A	G	SORL1	c.3346A>G	NM_003105.6	NP_003096.2:p.(Ile1116Val)	NC_000011.9:g.121444958A>G	(Likely) benign	1 lab	0bdd3391e4
3:38663897 SCN5A T>C	3	38663897	38663897	T	C	SCN5A	c.476A>G	NM_198056.3	NP_932173.1:p.(Tyr159Cys)	NC_000003.11:g.38663897T>C	VUS	1 lab	0bdf98ea4a
1:217709276 MISSING Ref too long to show for this DEL>T	1	217709276	218040441	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.217709277_218040441del	VUS	1 lab	0be1f59273
1:5937283 NPHP4 C>T	1	5937283	5937283	C	T	NPHP4	c.2687G>A	NM_015102.5	NP_055917.1:p.(Arg896Gln)	NC_000001.10:g.5937283C>T	(Likely) benign	1 lab	0be2246d55
2:44104993 ABCG8 A>G	2	44104993	44104993	A	G	ABCG8	c.1963A>G	NM_022437.3	NP_071882.1:p.(Met655Val)	NC_000002.11:g.44104993A>G	(Likely) benign	1 lab	0be2c6c56c
6:56438701 DST C>T	6	56438701	56438701	C	T	DST	c.6671-16G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56438701C>T	(Likely) benign	1 lab	0bef40df0a
2:179485097 TTN A>C	2	179485097	179485097	A	C	TTN	c.46151T>G	NM_001267550.2	NP_001254479.2:p.(Leu15384Arg)	NC_000002.11:g.179485097A>C	VUS	1 lab	0bf2930981
1:16258706 SPEN G>T	1	16258706	16258706	G	T	SPEN	c.5971G>T	NM_015001.3	NP_055816.2:p.(Ala1991Ser)	NC_000001.10:g.16258706G>T	(Likely) benign	1 lab	0bf2ecf40d
18:21113368 NPC1 C>A	18	21113368	21113368	C	A	NPC1	c.3705G>T	NM_000271.5	NP_000262.2:p.(Leu1235=)	NC_000018.9:g.21113368C>A	(Likely) benign	1 lab	0bff5db33a
3:38768370 SCN10A G>A	3	38768370	38768370	G	A	SCN10A	c.2814C>T	NM_006514.4	NP_006505.4:p.(Phe938=)	NC_000003.11:g.38768370G>A	(Likely) benign	1 lab	0c124cd3a6
7:55269062 EGFR GTC>G	7	55269062	55269078	GTC	G	EGFR	c.3114+29_3114+30del	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55269077_55269078del	(Likely) benign	1 lab	0c184d5fca
X:107979437 IRS4 G>A	X	107979437	107979437	G	A	IRS4	c.138C>T	NM_003604.2	NP_003595.1:p.(Thr46=)	NC_000023.10:g.107979437G>A	(Likely) benign	1 lab	0c1d7b4e0d
2:179445340 TTN T>A	2	179445340	179445340	T	A	TTN	c.66770-4A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179445340T>A	VUS	1 lab	0c1e43688c
9:27179676 TEK Ref too long to show for this DEL>G	9	27179676	27226453	Ref too long to show for this DEL	G	TEK	c.902-561_3201-1751del	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27179677_27226453del	(Likely) pathogenic	1 lab	0c266fbe0f
9:131345074 SPTAN1 G>A	9	131345074	131345074	G	A	SPTAN1	c.1752G>A	NM_001363759.2	NP_001350688.1:p.(Glu584=)	NC_000009.11:g.131345074G>A	(Likely) benign	1 lab	0c26a033d0
6:112438989 LAMA4 A>G	6	112438989	112438989	A	G	LAMA4	c.4934T>C	NM_001105206.3	NP_001098676.2:p.(Met1645Thr)	NC_000006.11:g.112438989A>G	VUS	1 lab	0c285654d7
3:128513786 RAB7A C>T	3	128513786	128513786	C	T	RAB7A	c.-8-417C>T	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128513786C>T	(Likely) benign	1 lab	0c2f263fc2
1:152278788 FLG G>A	1	152278788	152278788	G	A	FLG	c.8574C>T	NM_002016.2	NP_002007.1:p.(His2858=)	NC_000001.10:g.152278788G>A	(Likely) benign	1 lab	0c3206340c
4:100532253 MTTP A>T	4	100532253	100532253	A	T	MTTP	c.1770-47A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532253A>T	(Likely) benign	1 lab	0c35dbaeb6
1:147230374 GJA5 T>G	1	147230374	147230374	T	G	GJA5	c.973A>C	NM_005266.7	NP_005257.2:p.(Asn325His)	NC_000001.10:g.147230374T>G	VUS	1 lab	0c3b62a24e
6:10796399 MAK C>T	6	10796399	10796399	C	T	MAK	c.975G>A	NM_001242957.3	NP_001229886.1:p.(Pro325=)	NC_000006.11:g.10796399C>T	(Likely) benign	1 lab	0c406ae1bd
17:36491956 GPR179 C>G	17	36491956	36491956	C	G	GPR179	c.1296+3G>C	NM_001004334.4	NP_001004334.3:p.?	NC_000017.10:g.36491956C>G	VUS	1 lab	0c40c7203f
3:37059106 MLH1 A>G	3	37059106	37059106	A	G	MLH1	c.884+16A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37059106A>G	(Likely) benign	1 lab	0c4281d7c9
6:56504070 DST C>A	6	56504070	56504070	C	A	DST	c.2852G>T	NM_001144769.5	NP_001138241.1:p.(Arg951Leu)	NC_000006.11:g.56504070C>A	VUS	1 lab	0c50efb434
19:45412439 APOE G>T	19	45412439	45412439	G	T	APOE	c.964G>T	NM_001302688.2	NP_001289617.1:p.(Gly322Trp)	NC_000019.9:g.45412439G>T	VUS	1 lab	0c51a9be19
16:16297254 ABCC6 G>A	16	16297254	16297254	G	A	ABCC6	c.656+13C>T	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16297254G>A	(Likely) benign	1 lab	0c5eb38a29
7:100405137 EPHB4 C>CATGCCCGAGGCG	7	100405137	100405155	C	CATGCCCGAGGCG	EPHB4	c.2172_2183dup	NM_004444.5	NP_004435.3:p.(Ile724_Gly727dup)	NC_000007.13:g.100405144_100405155dup	VUS	1 lab	0c5ff8f941
2:44078851 ABCG8 G>A	2	44078851	44078851	G	A	ABCG8	c.451G>A	NM_022437.3	NP_071882.1:p.(Val151Met)	NC_000002.11:g.44078851G>A	VUS	1 lab	0c6326a13f
14:23858274 MYH6 G>C	14	23858274	23858274	G	C	MYH6	c.3979-10C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858274G>C	(Likely) benign	1 lab	0c64c07a45
X:47307868 ZNF41 G>A	X	47307868	47307868	G	A	ZNF41	c.1301C>T	NM_007130.4	NP_009061.1:p.(Thr434Met)	NC_000023.10:g.47307868G>A	VUS	1 lab	0c64fc061c
2:179554247 TTN G>A	2	179554247	179554247	G	A	TTN	c.31922C>T	NM_001267550.2	NP_001254479.2:p.(Pro10641Leu)	NC_000002.11:g.179554247G>A	VUS	1 lab	0c667819ee
8:19811231 LPL TA>T	8	19811231	19811234	TA	T	LPL	c.541+302del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811234del	(Likely) benign	1 lab	0c6d560f88
X:153055639 SSR4 G>Alt too long to show for this DUP	X	153055639	153063825	G	Alt too long to show for this DUP	SSR4				NC_000023.10:g.153055640_153063825dup	VUS	1 lab	0c6e5766f1
3:11442258 ATG7 Ref too long to show for this DEL>C	3	11442258	11520258	Ref too long to show for this DEL	C	ATG7	c.1956+20733_2079+51858del	NM_001349232.2	NP_001336161.1:p.?	NC_000003.11:g.11442259_11520258del	VUS	1 lab	0c70c10b06
1:25893325 LDLRAP1 G>GCTCT	1	25893325	25893329	G	GCTCT	LDLRAP1	c.783-13_783-10dup	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893326_25893329dup	(Likely) benign	1 lab	0c745657ce
3:38601896 SCN5A G>A	3	38601896	38601896	G	A	SCN5A	c.3987C>T	NM_001099404.2	NP_001092874.1:p.(Gly1329=)	NC_000003.11:g.38601896G>A	(Likely) benign	1 lab	0c7ba94985
21:44488472 CBS A>C	21	44488472	44488472	A	C	CBS	c.316+147T>G	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44488472A>C	(Likely) benign	1 lab	0c7fd6a62d
1:201330442 TNNT2 C>T	1	201330442	201330442	C	T	TNNT2	c.745G>A	NM_001276347.2	NP_001263276.1:p.(Asp249Asn)	NC_000001.10:g.201330442C>T	VUS	1 lab	0c87e288df
19:50334715 MED25 A>G	19	50334715	50334715	A	G	MED25	c.1227A>G	NM_030973.4	NP_112235.2:p.(Gln409=)	NC_000019.9:g.50334715A>G	(Likely) benign	1 lab	0c8bf03f4e
11:9879906 SBF2 C>G	11	9879906	9879906	C	G	SBF2	c.1967G>C	NM_030962.4	NP_112224.1:p.(Cys656Ser)	NC_000011.9:g.9879906C>G	VUS	1 lab	0c95bc0d1f
19:11227612 LDLR C>T	19	11227612	11227612	C	T	LDLR	c.1783C>T	NM_000527.5	NP_000518.1:p.(Arg595Trp)	NC_000019.9:g.11227612C>T	(Likely) pathogenic	1 lab	0c981f2319
11:129780428 PRDM10 T>TCTG	11	129780428	129780453	T	TCTG	PRDM10	c.3115_3117dup	NM_020228.3	NP_064613.2:p.(Gln1039dup)	NC_000011.9:g.129780451_129780453dup	(Likely) benign	1 lab	0ca36bf1c7
8:19797066 LPL C>G	8	19797066	19797066	C	G	LPL	c.88+27C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797066C>G	(Likely) benign	1 lab	0ca3c73567
8:19813374 LPL C>T	8	19813374	19813374	C	T	LPL	c.798C>T	NM_000237.3	NP_000228.1:p.(Cys266=)	NC_000008.10:g.19813374C>T	(Likely) benign	1 lab	0ca4aa9caf
2:25468946 DNMT3A G>A	2	25468946	25468946	G	A	DNMT3A	c.1430-13C>T	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25468946G>A	(Likely) benign	1 lab	0ca4d269a7
1:94476464 ABCA4 G>A	1	94476464	94476464	G	A	ABCA4	c.5606C>T	NM_000350.3	NP_000341.2:p.(Pro1869Leu)	NC_000001.10:g.94476464G>A	VUS	1 lab	0ca8cc79fa
5:110083970 SLC25A46 A>T	5	110083970	110083970	A	T	SLC25A46	c.563+6A>T	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110083970A>T	(Likely) benign	1 lab	0cab7f666a
12:117768154 NOS1 C>T	12	117768154	117768154	C	T	NOS1	c.721G>A	NM_001204218.2	NP_001191147.1:p.(Asp241Asn)	NC_000012.11:g.117768154C>T	VUS	1 lab	0cad59afe9
20:62612658 PRPF6 G>T	20	62612658	62612658	G	T	PRPF6	c.60G>T	NM_012469.4	NP_036601.2:p.(Gly20=)	NC_000020.10:g.62612658G>T	(Likely) benign	1 lab	0cae7e9ac5
3:30686546 TGFBR2 T>C	3	30686546	30686546	T	C	TGFBR2	c.338+139T>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30686546T>C	(Likely) benign	1 lab	0caf2e57b6
3:37583941 ITGA9 C>T	3	37583941	37583941	C	T	ITGA9	c.1554C>T	NM_002207.3	NP_002198.2:p.(Asp518=)	NC_000003.11:g.37583941C>T	(Likely) benign	1 lab	0cb2b81906
X:153609113 EMD G>A	X	153609113	153609113	G	A	EMD	c.400G>A	NM_000117.3	NP_000108.1:p.(Val134Met)	NC_000023.10:g.153609113G>A	VUS	1 lab	0cb51d3ad9
6:75899300 COL12A1 T>G	6	75899300	75899300	T	G	COL12A1	c.626A>C	NM_004370.6	NP_004361.3:p.(Lys209Thr)	NC_000006.11:g.75899300T>G	(Likely) benign	1 lab	0cb6a501d0
3:14069048 MISSING G>Alt too long to show for this DUP	3	14069048	14350186	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.14069049_14350186dup	VUS	1 lab	0cb6dbb892
2:179536888 TTN C>A	2	179536888	179536888	C	A	TTN	c.35037G>T	NM_001267550.2	NP_001254479.2:p.(Pro11679=)	NC_000002.11:g.179536888C>A	(Likely) benign	1 lab	0cb86485e1
17:42988006 GFAP G>A	17	42988006	42988006	G	A	GFAP	c.1148C>T	NM_002055.5	NP_002046.1:p.(Thr383Ile)	NC_000017.10:g.42988006G>A	VUS	1 lab	0cba6056f3
7:54647960 MISSING G>Alt too long to show for this DUP	7	54647960	55176414	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.54647962_55176414dup	VUS	1 lab	0cbb9dc5fc
3:24169202 THRB T>G	3	24169202	24169202	T	G	THRB	c.932A>C	NM_001354708.2	NP_001341637.1:p.(Glu311Ala)	NC_000003.11:g.24169202T>G	(Likely) pathogenic	1 lab	0cc791ef82
9:107582197 ABCA1 C>T	9	107582197	107582197	C	T	ABCA1	c.3103+11G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582197C>T	(Likely) benign	1 lab	0cc8d99bdd
15:85407799 ALPK3 A>G	15	85407799	85407799	A	G	ALPK3	c.4626A>G	NM_020778.5	NP_065829.4:p.(Thr1542=)	NC_000015.9:g.85407799A>G	(Likely) benign	1 lab	0cce805a3a
7:91830719 KRIT1 T>G	7	91830719	91830719	T	G	KRIT1	c.2044A>C	NM_194455.1	NP_919437.1:p.(Lys682Gln)	NC_000007.13:g.91830719T>G	(Likely) benign	1 lab	0ccf641893
2:189850294 COL3A1 G>A	2	189850294	189850294	G	A	COL3A1	c.334-97G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189850294G>A	(Likely) benign	1 lab	0cd3da296f
6:123658825 TRDN G>T	6	123658825	123658825	G	T	TRDN	c.1370-11C>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123658825G>T	(Likely) benign	1 lab	0cd490c24a
3:133670225 SLCO2A1 T>C	3	133670225	133670225	T	C	SLCO2A1	c.725-37A>G	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133670225T>C	(Likely) benign	1 lab	0cd59753f7
2:179424216 TTN GT>G	2	179424216	179424217	GT	G	TTN	c.78938del	NM_133378.4	NP_596869.4:p.(His26313ProfsTer2)	NC_000002.11:g.179424217del	(Likely) pathogenic	1 lab	0cd699ac96
15:72063267 THSD4 A>G	15	72063267	72063267	A	G	THSD4	c.1690-136A>G	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72063267A>G	(Likely) benign	1 lab	0cd98fad63
3:133698280 SLCO2A1 C>G	3	133698280	133698280	C	G	SLCO2A1	c.234+45G>C	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133698280C>G	(Likely) benign	1 lab	0cdd38ae50
10:90988083 LIPA T>C	10	90988083	90988083	T	C	LIPA	c.302A>G	NM_000235.4	NP_000226.2:p.(Asn101Ser)	NC_000010.10:g.90988083T>C	VUS	1 lab	0cdf2e13e6
11:121393328 SORL1 C>T	11	121393328	121393328	C	T	SORL1	c.1438C>T	NM_003105.6	NP_003096.2:p.(Arg480Cys)	NC_000011.9:g.121393328C>T	(Likely) benign	1 lab	0cdfcfc90a
8:10468475 RP1L1 C>T	8	10468475	10468475	C	T	RP1L1	c.3133G>A	NM_178857.6	NP_849188.4:p.(Gly1045Arg)	NC_000008.10:g.10468475C>T	(Likely) benign	1 lab	0ce3086c00
7:84644476 SEMA3D G>A	7	84644476	84644476	G	A	SEMA3D	c.1602C>T	NM_152754.3	NP_689967.2:p.(Cys534=)	NC_000007.13:g.84644476G>A	(Likely) benign	1 lab	0ceaf20b75
6:2536654 MISSING G>Alt too long to show for this DUP	6	2536654	2645656	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.2536655_2645656dup	VUS	1 lab	0ceb8d0905
7:6035291 PMS2 A>G	7	6035291	6035291	A	G	PMS2	c.804-27T>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6035291A>G	(Likely) benign	1 lab	0cefbf6650
19:11230790 LDLR T>C	19	11230790	11230790	T	C	LDLR	c.1868T>C	NM_000527.5	NP_000518.1:p.(Ile623Thr)	NC_000019.9:g.11230790T>C	VUS	1 lab	0cf109a510
2:179397027 TTN T>C	2	179397027	179397027	T	C	TTN	c.104315A>G	NM_001267550.2	NP_001254479.2:p.(Glu34772Gly)	NC_000002.11:g.179397027T>C	VUS	1 lab	0cf32b525a
9:32542003 TOPORS ACT>A	9	32542003	32542008	ACT	A	TOPORS	c.2518_2519del	NM_005802.5	NP_005793.2:p.(Ser840Ter)	NC_000009.11:g.32542007_32542008del	(Likely) pathogenic	1 lab	0cf3cb0f9d
3:38671750 SCN5A C>T	3	38671750	38671750	C	T	SCN5A	c.392+52G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38671750C>T	(Likely) benign	1 lab	0cf576614b
X:83358423 MISSING Ref too long to show for this DEL>A	X	83358423	83745887	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.83358424_83745887del	VUS	1 lab	0cf5ab3662
5:158747536 IL12B C>G	5	158747536	158747536	C	G	IL12B	c.483-8G>C	NM_002187.3	NP_002178.2:p.?	NC_000005.9:g.158747536C>G	(Likely) benign	1 lab	0cf663a118
4:100518356 MTTP C>T	4	100518356	100518356	C	T	MTTP	c.1042C>T	NM_000253.4	NP_000244.2:p.(Leu348=)	NC_000004.11:g.100518356C>T	(Likely) benign	1 lab	0cf7e15bd3
10:73461949 CDH23 C>G	10	73461949	73461949	C	G	CDH23	c.2568C>G	NM_022124.6	NP_071407.4:p.(Ile856Met)	NC_000010.10:g.73461949C>G	(Likely) benign	1 lab	0cfae3cd59
X:70444116 GJB1 A>G	X	70444116	70444116	A	G	GJB1	c.559A>G	NM_000166.6	NP_000157.1:p.(Lys187Glu)	NC_000023.10:g.70444116A>G	(Likely) pathogenic	1 lab	0cfcd30196
2:209170116 MISSING Ref too long to show for this DEL>C	2	209170116	209587575	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.209170117_209587575del	(Likely) pathogenic	1 lab	0cfd41a520
12:2675631 CACNA1C C>T	12	2675631	2675631	C	T	CACNA1C	c.1552C>T	NM_199460.4	NP_955630.3:p.(Arg518Cys)	NC_000012.11:g.2675631C>T	(Likely) pathogenic	1 lab	0d00a0bcfd
6:123824842 TRDN G>C	6	123824842	123824842	G	C	TRDN	c.815C>G	NM_001256021.2	NP_001242950.1:p.(Ala272Gly)	NC_000006.11:g.123824842G>C	VUS	1 lab	0d01d194c1
17:73495358 TMEM94 C>A	17	73495358	73495358	C	A	TMEM94	c.4014C>A	NM_014738.6	NP_055553.3:p.(Tyr1338Ter)	NC_000017.10:g.73495358C>A	(Likely) pathogenic	1 lab	0d08477476
9:135176070 SETX T>A	9	135176070	135176070	T	A	SETX	c.5495A>T	NM_015046.7	NP_055861.3:p.(Asp1832Val)	NC_000009.11:g.135176070T>A	VUS	1 lab	0d0e20498c
3:60522690 FHIT C>A	3	60522690	60522690	C	A	FHIT	c.6G>T	NM_002012.4	NP_002003.1:p.(Ser2=)	NC_000003.11:g.60522690C>A	(Likely) benign	1 lab	0d0fd4cfb7
5:95729017 PCSK1 G>A	5	95729017	95729017	G	A	PCSK1	c.1950C>T	NM_000439.5	NP_000430.3:p.(Ser650=)	NC_000005.9:g.95729017G>A	(Likely) benign	1 lab	0d16f16a30
11:47371243 MYBPC3 A>C	11	47371243	47371243	A	C	MYBPC3	c.654+82T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371243A>C	(Likely) benign	1 lab	0d1d97603c
16:920057 LMF1 C>CT	16	920057	920059	C	CT	LMF1	c.842dup	NM_001352018.2	NP_001338947.1:p.(Glu282GlyfsTer33)	NC_000016.9:g.920059dup	VUS	1 lab	0d1e29af4e
11:47368087 MYBPC3 G>T	11	47368087	47368087	G	T	MYBPC3	c.926+91C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368087G>T	(Likely) benign	1 lab	0d1f5e2256
7:91603134 AKAP9 A>G	7	91603134	91603134	A	G	AKAP9	c.158A>G	NM_005751.5	NP_005742.4:p.(His53Arg)	NC_000007.13:g.91603134A>G	(Likely) benign	1 lab	0d22cc1ff0
18:34298333 FHOD3 A>C	18	34298333	34298333	A	C	FHOD3	c.3072A>C	NM_001281740.3	NP_001268669.1:p.(Pro1024=)	NC_000018.9:g.34298333A>C	(Likely) benign	1 lab	0d286f26c1
16:58571071 CNOT1 C>T	16	58571071	58571071	C	T	CNOT1	c.5468G>A	NM_016284.5	NP_057368.3:p.(Arg1823His)	NC_000016.9:g.58571071C>T	VUS	1 lab	0d2b3841fa
11:65422286 RELA G>A	11	65422286	65422286	G	A	RELA	c.1219C>T	NM_021975.4	NP_068810.3:p.(Pro407Ser)	NC_000011.9:g.65422286G>A	VUS	1 lab	0d2ea7a73e
4:128851977 MFSD8 G>GA	4	128851977	128851987	G	GA	MFSD8	c.864-6dup	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128851987dup	(Likely) benign	1 lab	0d30be1187
2:44053323 ABCG5 G>T	2	44053323	44053323	G	T	ABCG5	c.774+198C>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053323G>T	(Likely) benign	1 lab	0d337f9b0e
5:32724635 NPR3 G>A	5	32724635	32724635	G	A	NPR3	c.770-169G>A	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32724635G>A	(Likely) benign	1 lab	0d3876fa51
7:70896688 GALNT17 Ref too long to show for this DEL>A	7	70896688	70962606	Ref too long to show for this DEL	A	GALNT17	c.962+10599_963-73664del	NM_022479.3	NP_071924.1:p.?	NC_000007.13:g.70896690_70962606del	VUS	1 lab	0d3b103ba0
11:95578325 MTMR2 T>TTAATATGTTCTAGCCAATGAGTAGATTCCAAGTTAGACAACCAGTGGGTTTCCTCAATGTTGG	11	95578325	95578326	T	TTAATATGTTCTAGCCAATGAGTAGATTCCAAGTTAGACAACCAGTGGGTTTCCTCAATGTTGG	MTMR2	c.964-3_964-2insCCAACATTGAGGAAACCCACTGGTTGTCTAACTTGGAATCTACTCATTGGCTAGAACATATTA	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95578325_95578326insTAATATGTTCTAGCCAATGAGTAGATTCCAAGTTAGACAACCAGTGGGTTTCCTCAATGTTGG	(Likely) benign	1 lab	0d3e950625
9:137623607 COL5A1 CG>C	9	137623607	137623610	CG	C	COL5A1	c.1332+101del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623610del	(Likely) benign	1 lab	0d43c24d47
14:70039662 CCDC177 T>A	14	70039662	70039662	T	A	CCDC177	c.678A>T	NM_001271507.2	NP_001258436.1:p.(Thr226=)	NC_000014.8:g.70039662T>A	(Likely) benign	1 lab	0d4532638e
7:72718123 MISSING Ref too long to show for this DEL>G	7	72718123	74142190	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72718124_74142190del	(Likely) pathogenic	1 lab	0d49e83abf
15:40990936 RAD51 A>G	15	40990936	40990936	A	G	RAD51	c.-2-19A>G	NM_002875.5	NP_002866.2:p.?	NC_000015.9:g.40990936A>G	(Likely) benign	1 lab	0d4dd424ed
8:158047 MISSING Ref too long to show for this DEL>C	8	158047	3263991	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.158048_3263991del	(Likely) pathogenic	1 lab	0d4f35f27a
16:77331168 ADAMTS18 C>G	16	77331168	77331168	C	G	ADAMTS18	c.2801+18G>C	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77331168C>G	(Likely) benign	1 lab	0d50ff9b0f
7:128475088 FLNC A>G	7	128475088	128475088	A	G	FLNC	c.353-292A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128475088A>G	(Likely) benign	1 lab	0d5588d151
7:94039771 COL1A2 G>A	7	94039771	94039771	G	A	COL1A2	c.1129G>A	NM_000089.4	NP_000080.2:p.(Glu377Lys)	NC_000007.13:g.94039771G>A	VUS	1 lab	0d58b1078d
16:1021000 LMF1 CCGG>C	16	1021000	1021003	CCGG	C	LMF1	c.-362+10142_-362+10144del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021001_1021003del	(Likely) benign	1 lab	0d59549a7a
1:156844778 NTRK1 G>A	1	156844778	156844778	G	A	NTRK1	c.1332G>A	NM_002529.4	NP_002520.2:p.(Arg444=)	NC_000001.10:g.156844778G>A	(Likely) benign	1 lab	0d5ecfa8a4
5:149509535 PDGFRB C>T	5	149509535	149509535	C	T	PDGFRB	c.1368-4G>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149509535C>T	(Likely) benign	1 lab	0d600d6266
8:68031052 CSPP1 G>A	8	68031052	68031052	G	A	CSPP1	c.796G>A	NM_001291339.2	NP_001278268.1:p.(Val266Ile)	NC_000008.10:g.68031052G>A	VUS	1 lab	0d608d33c3
10:71160861 HK1 C>T	10	71160861	71160861	C	T	HK1	c.2736C>T	NM_001358263.1	NP_001345192.1:p.(Gly912=)	NC_000010.10:g.71160861C>T	(Likely) benign	1 lab	0d69a35921
7:94285307 SGCE A>T	7	94285307	94285307	A	T	SGCE	c.104T>A	NM_001346713.2	NP_001333642.1:p.(Leu35Gln)	NC_000007.13:g.94285307A>T	VUS	1 lab	0d69e9e7b2
16:67976867 LCAT G>T	16	67976867	67976867	G	T	LCAT	c.324C>A	NM_000229.2	NP_000220.1:p.(Asn108Lys)	NC_000016.9:g.67976867G>T	VUS	1 lab	0d6a6947c8
11:47353603 MYBPC3 T>TG	11	47353603	47353605	T	TG	MYBPC3	c.3814+19dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353605dup	(Likely) benign	1 lab	0d6ad2062f
1:211832061 NEK2 C>CAAAAAAA	1	211832061	211832090	C	CAAAAAAA	NEK2	c.1112-14_1112-8dup	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832084_211832090dup	(Likely) benign	1 lab	0d745aeead
1:26385067 TRIM63 C>T	1	26385067	26385067	C	T	TRIM63	c.645G>A	NM_032588.4	NP_115977.2:p.(Thr215=)	NC_000001.10:g.26385067C>T	(Likely) benign	1 lab	0d773d6cca
20:42788911 JPH2 G>A	20	42788911	42788911	G	A	JPH2	c.516C>T	NM_020433.5	NP_065166.2:p.(Asn172=)	NC_000020.10:g.42788911G>A	(Likely) benign	1 lab	0d7c22061a
5:127612185 FBN2 G>A	5	127612185	127612185	G	A	FBN2	c.7472-333C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127612185G>A	(Likely) benign	1 lab	0d7cedd36c
12:32755151 FGD4 T>G	12	32755151	32755151	T	G	FGD4	c.893T>G	NM_139241.3	NP_640334.2:p.(Met298Arg)	NC_000012.11:g.32755151T>G	(Likely) pathogenic	1 lab	0d7f6424f0
6:32025860 TNXB G>A	6	32025860	32025860	G	A	TNXB	c.7800C>T	NM_019105.8	NP_061978.6:p.(Gly2600=)	NC_000006.11:g.32025860G>A	(Likely) benign	1 lab	0d813841e6
8:144295845 GPIHBP1 A>G	8	144295845	144295845	A	G	GPIHBP1	c.181+20A>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295845A>G	(Likely) benign	1 lab	0d898b8eb0
15:45392285 DUOX2 C>A	15	45392285	45392285	C	A	DUOX2	c.3147G>T	NM_001363711.2	NP_001350640.1:p.(Ser1049=)	NC_000015.9:g.45392285C>A	(Likely) benign	1 lab	0d89c69427
16:57015076 CETP G>A	16	57015076	57015076	G	A	CETP	c.1153G>A	NM_000078.3	NP_000069.2:p.(Val385Met)	NC_000016.9:g.57015076G>A	(Likely) benign	1 lab	0d8ee5750c
16:70286790 AARS1 A>AAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTC	16	70286790	70286840	A	AAGCCCCGATTGGCTGCATTCTAGAAGACAGGAAGGGAAGGGGGAGTC	AARS1	c.2722-28_2740dup	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70286794_70286840dup	VUS	1 lab	0d90df3568
16:66570884 TK2 G>A	16	66570884	66570884	G	A	TK2	c.121C>T	NM_001271934.2	NP_001258863.1:p.(Arg41Cys)	NC_000016.9:g.66570884G>A	(Likely) pathogenic	1 lab	0d9616ff2e
9:204190 MISSING Ref too long to show for this DEL>G	9	204190	1386202	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.204193_1386202del	(Likely) pathogenic	1 lab	0d96a42c1d
2:170113753 LRP2 T>C	2	170113753	170113753	T	C	LRP2	c.2520A>G	NM_004525.3	NP_004516.2:p.(Leu840=)	NC_000002.11:g.170113753T>C	(Likely) benign	1 lab	0d9c800bfd
17:423051 VPS53 T>C	17	423051	423051	T	C	VPS53	c.2328+15A>G	NM_001128159.3	NP_001121631.1:p.?	NC_000017.10:g.423051T>C	(Likely) benign	1 lab	0d9cebe115
2:208632488 FZD5 CGAA>C	2	208632488	208632495	CGAA	C	FZD5	c.973_975del	NM_003468.4	NP_003459.2:p.(Phe325del)	NC_000002.11:g.208632493_208632495del	VUS	1 lab	0da0b55ce5
X:114858194 MISSING T>Alt too long to show for this DUP	X	114858194	115012659	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.114858195_115012659dup	VUS	1 lab	0da52bdfb7
1:156106021 LMNA AGCCCTACCTC>A	1	156106021	156106033	AGCCCTACCTC	A	LMNA	c.1177_1186del	NM_170707.4	NP_733821.1:p.(Pro393SerfsTer84)	NC_000001.10:g.156106024_156106033del	(Likely) pathogenic	1 lab	0da6bf345e
2:21233115 APOB A>G	2	21233115	21233115	A	G	APOB	c.6625T>C	NM_000384.3	NP_000375.3:p.(Leu2209=)	NC_000002.11:g.21233115A>G	(Likely) benign	1 lab	0db4dbfbda
2:21233725 APOB A>T	2	21233725	21233725	A	T	APOB	c.6015T>A	NM_000384.3	NP_000375.3:p.(Ile2005=)	NC_000002.11:g.21233725A>T	(Likely) benign	1 lab	0db91eb968
16:15851660 MYH11 C>A	16	15851660	15851660	C	A	MYH11	c.1575+24G>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15851660C>A	(Likely) benign	1 lab	0dbb9a8e40
2:21246482 APOB G>A	2	21246482	21246482	G	A	APOB	c.2519C>T	NM_000384.3	NP_000375.3:p.(Thr840Ile)	NC_000002.11:g.21246482G>A	VUS	1 lab	0dbc29f8dd
11:22646984 FANCF C>T	11	22646984	22646984	C	T	FANCF	c.373G>A	NM_022725.4	NP_073562.1:p.(Asp125Asn)	NC_000011.9:g.22646984C>T	(Likely) benign	1 lab	0dbffc682b
13:31287978 ALOX5AP G>GGTGT	13	31287978	31287993	G	GGTGT	ALOX5AP	c.116+12_116+15dup	NM_001204406.2	NP_001191335.1:p.?	NC_000013.10:g.31287990_31287993dup	(Likely) benign	1 lab	0dcab1b8a8
2:216209520 ATIC C>T	2	216209520	216209520	C	T	ATIC	c.1246C>T	NM_004044.7	NP_004035.2:p.(Arg416Ter)	NC_000002.11:g.216209520C>T	VUS	1 lab	0dcb1ff95e
2:188225486 CALCRL G>GA	2	188225486	188225496	G	GA	CALCRL	c.628-9dup	NM_005795.6	NP_005786.1:p.?	NC_000002.11:g.188225496dup	(Likely) benign	1 lab	0dccc2fc1e
18:10671764 PIEZO2 T>C	18	10671764	10671764	T	C	PIEZO2	c.8019A>G	NM_022068.4	NP_071351.2:p.(Leu2673=)	NC_000018.9:g.10671764T>C	(Likely) benign	1 lab	0dcef0a37f
2:179433480 TTN A>ATCTT	2	179433480	179433485	A	ATCTT	TTN	c.77375_77378dup	NM_001267550.2	NP_001254479.2:p.(Asp25793GlufsTer6)	NC_000002.11:g.179433482_179433485dup	(Likely) pathogenic	1 lab	0dd299c842
7:78783753 MAGI2 Ref too long to show for this DEL>T	7	78783753	78796945	Ref too long to show for this DEL	T	MAGI2	c.302-160421_302-147232del	NM_012301.4	NP_036433.2:p.?	NC_000007.13:g.78783756_78796945del	VUS	1 lab	0dd76ba488
19:15390195 BRD4 Ref too long to show for this DEL>C	19	15390195	15408571	Ref too long to show for this DEL	C	BRD4	c.-34-24627_-34-6252del	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15390196_15408571del	VUS	1 lab	0ddbd7e9d2
19:11216390 LDLR A>C	19	11216390	11216390	A	C	LDLR	c.694+114A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216390A>C	(Likely) benign	1 lab	0de065fdb0
1:156851382 NTRK1 G>A	1	156851382	156851382	G	A	NTRK1	c.2339G>A	NM_002529.4	NP_002520.2:p.(Arg780Gln)	NC_000001.10:g.156851382G>A	(Likely) benign	1 lab	0de14f4e73
1:40768855 COL9A2 G>A	1	40768855	40768855	G	A	COL9A2	c.1551C>T	NM_001852.4	NP_001843.1:p.(Gly517=)	NC_000001.10:g.40768855G>A	(Likely) benign	1 lab	0de166fa70
20:62073758 KCNQ2 C>A	20	62073758	62073758	C	A	KCNQ2	c.816+1G>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62073758C>A	(Likely) pathogenic	1 lab	0de254b3ea
9:107558340 ABCA1 G>A	9	107558340	107558340	G	A	ABCA1	c.5376C>T	NM_005502.4	NP_005493.2:p.(Thr1792=)	NC_000009.11:g.107558340G>A	(Likely) benign	1 lab	0dea1fda51
1:103380292 COL11A1 G>C	1	103380292	103380292	G	C	COL11A1	c.3928C>G	NM_080629.3	NP_542196.2:p.(Pro1310Ala)	NC_000001.10:g.103380292G>C	VUS	1 lab	0ded467052
3:38591656 SCN5A G>A	3	38591656	38591656	G	A	SCN5A	c.*156C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38591656G>A	(Likely) benign	1 lab	0dfb3655f3
2:179455484 TTN GT>G	2	179455484	179455488	GT	G	TTN	c.60967del	NM_001267550.2	NP_001254479.2:p.(Thr20323HisfsTer6)	NC_000002.11:g.179455488del	(Likely) pathogenic	1 lab	0dfcc56f27
10:134644157 MISSING Ref too long to show for this DEL>C	10	134644157	134764189	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.134644161_134764189del	VUS	1 lab	0e081f7736
14:23857113 MYH6 T>G	14	23857113	23857113	T	G	MYH6	c.4379A>C	NM_002471.4	NP_002462.2:p.(Gln1460Pro)	NC_000014.8:g.23857113T>G	VUS	1 lab	0e0bb403e8
1:186064598 HMCN1 C>T	1	186064598	186064598	C	T	HMCN1	c.10518C>T	NM_031935.3	NP_114141.2:p.(Cys3506=)	NC_000001.10:g.186064598C>T	(Likely) benign	1 lab	0e0cd86130
14:68191206 RDH12 G>A	14	68191206	68191206	G	A	RDH12	c.85G>A	NM_152443.3	NP_689656.2:p.(Gly29Arg)	NC_000014.8:g.68191206G>A	VUS	1 lab	0e131f498a
12:125302251 SCARB1 G>A	12	125302251	125302251	G	A	SCARB1	c.129C>T	NM_005505.5	NP_005496.4:p.(Asn43=)	NC_000012.11:g.125302251G>A	(Likely) benign	1 lab	0e14db4c0d
8:6371291 ANGPT2 A>G	8	6371291	6371291	A	G	ANGPT2	c.1107T>C	NM_001147.3	NP_001138.1:p.(Tyr369=)	NC_000008.10:g.6371291A>G	(Likely) benign	1 lab	0e16d7eaa5
14:21794214 RPGRIP1 T>C	14	21794214	21794214	T	C	RPGRIP1	c.2592T>C	NM_020366.4	NP_065099.3:p.(Tyr864=)	NC_000014.8:g.21794214T>C	(Likely) benign	1 lab	0e17f950bd
8:61773603 CHD7 A>G	8	61773603	61773603	A	G	CHD7	c.7749A>G	NM_017780.4	NP_060250.2:p.(Glu2583=)	NC_000008.10:g.61773603A>G	(Likely) benign	1 lab	0e1b8e4e04
6:7568076 DSP G>T	6	7568076	7568076	G	T	DSP	c.1203G>T	NM_004415.4	NP_004406.2:p.(Lys401Asn)	NC_000006.11:g.7568076G>T	VUS	1 lab	0e1dffc39b
2:110922744 NPHP1 T>C	2	110922744	110922744	T	C	NPHP1	c.625-12A>G	NM_000272.5	NP_000263.2:p.?	NC_000002.11:g.110922744T>C	VUS	1 lab	0e1f116da1
2:210642087 UNC80 C>T	2	210642087	210642087	C	T	UNC80	c.404C>T	NM_182587.4	NP_872393.3:p.(Thr135Ile)	NC_000002.11:g.210642087C>T	(Likely) benign	1 lab	0e22d84e86
20:10653670 JAG1 G>GAGGT	20	10653670	10653671	G	GAGGT	JAG1	c.82-17_82-16insACCT	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10653670_10653671insAGGT	(Likely) benign	1 lab	0e22dcb544
15:67473705 SMAD3 A>G	15	67473705	67473705	A	G	SMAD3	c.785A>G	NM_005902.4	NP_005893.1:p.(Asp262Gly)	NC_000015.9:g.67473705A>G	VUS	1 lab	0e2b35e4f5
4:100518333 MTTP A>G	4	100518333	100518333	A	G	MTTP	c.1019A>G	NM_000253.4	NP_000244.2:p.(Lys340Arg)	NC_000004.11:g.100518333A>G	VUS	1 lab	0e2c3723ba
2:179476822 TTN C>T	2	179476822	179476822	C	T	TTN	c.42612G>A	NM_133378.4	NP_596869.4:p.(Trp14204Ter)	NC_000002.11:g.179476822C>T	(Likely) pathogenic	1 lab	0e3146327f
13:52511624 ATP7B G>A	13	52511624	52511624	G	A	ATP7B	c.3891C>T	NM_000053.4	NP_000044.2:p.(Val1297=)	NC_000013.10:g.52511624G>A	(Likely) benign	1 lab	0e33023020
1:218607572 TGFB2 C>G	1	218607572	218607572	C	G	TGFB2	c.727+16C>G	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218607572C>G	(Likely) benign	1 lab	0e355be3cf
2:220496980 SLC4A3 C>T	2	220496980	220496980	C	T	SLC4A3	c.1042-4C>T	NM_201574.3	NP_963868.3:p.?	NC_000002.11:g.220496980C>T	(Likely) benign	1 lab	0e38e1fa25
3:49680057 BSN C>T	3	49680057	49680057	C	T	BSN	c.990C>T	NM_003458.4	NP_003449.2:p.(Thr330=)	NC_000003.11:g.49680057C>T	(Likely) benign	1 lab	0e3ae678dc
15:22752398 MISSING Ref too long to show for this DEL>A	15	22752398	23284476	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22752399_23284476del	(Likely) pathogenic	1 lab	0e3b1c0388
1:1372485 VWA1 C>T	1	1372485	1372485	C	T	VWA1	c.252C>T	NM_022834.5	NP_073745.2:p.(Thr84=)	NC_000001.10:g.1372485C>T	(Likely) benign	1 lab	0e3c382f64
14:105173913 INF2 C>T	14	105173913	105173913	C	T	INF2	c.1309C>T	NM_022489.4	NP_071934.3:p.(Pro437Ser)	NC_000014.8:g.105173913C>T	VUS	1 lab	0e3c4ccbf6
6:72892356 RIMS1 G>C	6	72892356	72892356	G	C	RIMS1	c.1182G>C	NM_014989.6	NP_055804.2:p.(Ala394=)	NC_000006.11:g.72892356G>C	(Likely) benign	1 lab	0e3dd507a0
20:41464447 PTPRT Ref too long to show for this DEL>T	20	41464447	41500852	Ref too long to show for this DEL	T	PTPRT	c.214+13596_215-44342del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41464449_41500852del	VUS	1 lab	0e4400e150
20:25275591 ABHD12 G>C	20	25275591	25275591	G	C	ABHD12	c.*18C>G	NM_015600.5	NP_056415.1:p.?	NC_000020.10:g.25275591G>C	(Likely) benign	1 lab	0e44881990
19:11240240 LDLR G>A	19	11240240	11240240	G	A	LDLR	c.2441G>A	NM_000527.5	NP_000518.1:p.(Arg814Gln)	NC_000019.9:g.11240240G>A	VUS	1 lab	0e471350c1
10:73571264 CDH23 G>C	10	73571264	73571264	G	C	CDH23	c.9199-4G>C	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73571264G>C	(Likely) benign	1 lab	0e4b35f658
1:25883842 LDLRAP1 G>A	1	25883842	25883842	G	A	LDLRAP1	c.459+84G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883842G>A	(Likely) benign	1 lab	0e4c114ed6
19:11230798 LDLR GA>G	19	11230798	11230800	GA	G	LDLR	c.1878del	NM_000527.5	NP_000518.1:p.(Ala627ProfsTer38)	NC_000019.9:g.11230800del	(Likely) pathogenic	1 lab	0e522c8c5a
8:59404300 CYP7A1 C>T	8	59404300	59404300	C	T	CYP7A1	c.1249G>A	NM_000780.4	NP_000771.2:p.(Gly417Arg)	NC_000008.10:g.59404300C>T	(Likely) pathogenic	1 lab	0e5903febf
10:112595630 RBM20 A>C	10	112595630	112595630	A	C	RBM20	c.3578A>C	NM_001134363.3	NP_001127835.2:p.(Tyr1193Ser)	NC_000010.10:g.112595630A>C	VUS	1 lab	0e5f7678b8
11:47366444 MYBPC3 T>A	11	47366444	47366444	T	A	MYBPC3	c.1091-1269A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366444T>A	(Likely) benign	1 lab	0e5fd0d1c7
11:18305359 HPS5 A>T	11	18305359	18305359	A	T	HPS5	c.3041T>A	NM_181507.2	NP_852608.1:p.(Leu1014Gln)	NC_000011.9:g.18305359A>T	(Likely) benign	1 lab	0e5ff82df8
10:99655714 CRTAC1 G>A	10	99655714	99655714	G	A	CRTAC1	c.1245C>T	NM_018058.7	NP_060528.3:p.(Asp415=)	NC_000010.10:g.99655714G>A	(Likely) benign	1 lab	0e62113778
17:6428667 PITPNM3 G>C	17	6428667	6428667	G	C	PITPNM3	c.226+9C>G	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6428667G>C	(Likely) benign	1 lab	0e631cb8b7
2:21232105 APOB T>C	2	21232105	21232105	T	C	APOB	c.7635A>G	NM_000384.3	NP_000375.3:p.(Thr2545=)	NC_000002.11:g.21232105T>C	(Likely) benign	1 lab	0e63f7200e
2:44059025 ABCG5 T>A	2	44059025	44059025	T	A	ABCG5	c.403-19A>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059025T>A	(Likely) benign	1 lab	0e6d02ecf3
6:7567644 DSP A>T	6	7567644	7567644	A	T	DSP	c.1102A>T	NM_004415.4	NP_004406.2:p.(Ile368Phe)	NC_000006.11:g.7567644A>T	VUS	1 lab	0f212744e5
3:128525419 RAB7A C>T	3	128525419	128525419	C	T	RAB7A	c.385C>T	NM_004637.6	NP_004628.4:p.(Leu129Phe)	NC_000003.11:g.128525419C>T	(Likely) pathogenic	1 lab	0e76612fb2
10:75867132 VCL C>T	10	75867132	75867132	C	T	VCL	c.2559+20C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75867132C>T	(Likely) benign	1 lab	0e8166a646
11:65321338 LTBP3 T>C	11	65321338	65321338	T	C	LTBP3	c.698A>G	NM_001130144.3	NP_001123616.1:p.(His233Arg)	NC_000011.9:g.65321338T>C	VUS	1 lab	0e868865e7
2:27670667 IFT172 T>C	2	27670667	27670667	T	C	IFT172	c.4539+12A>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27670667T>C	(Likely) benign	1 lab	0e86ae4125
8:68049843 CSPP1 G>A	8	68049843	68049843	G	A	CSPP1	c.1078+5G>A	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68049843G>A	VUS	1 lab	0e87104238
6:32024395 TNXB C>T	6	32024395	32024395	C	T	TNXB	c.8111G>A	NM_019105.8	NP_061978.6:p.(Arg2704His)	NC_000006.11:g.32024395C>T	(Likely) benign	1 lab	0e872bf360
9:4118218 GLIS3 G>A	9	4118218	4118218	G	A	GLIS3	c.1260C>T	NM_001042413.2	NP_001035878.1:p.(Pro420=)	NC_000009.11:g.4118218G>A	(Likely) benign	1 lab	0e8e435273
16:2093698 NTHL1 G>A	16	2093698	2093698	G	A	NTHL1	c.555C>T	NM_002528.7	NP_002519.2:p.(Ser185=)	NC_000016.9:g.2093698G>A	(Likely) benign	1 lab	0e917882f2
16:1642536 IFT140 C>T	16	1642536	1642536	C	T	IFT140	c.423G>A	NM_014714.4	NP_055529.2:p.(Thr141=)	NC_000016.9:g.1642536C>T	(Likely) benign	1 lab	0e91d91843
10:112570221 RBM20 G>A	10	112570221	112570221	G	A	RBM20	c.1880+1G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112570221G>A	(Likely) pathogenic	1 lab	0e91e65223
11:85342780 TMEM126B A>Alt too long to show for this DUP	11	85342780	85347272	A	Alt too long to show for this DUP	TMEM126B	c.133_692dup	NM_018480.7	NP_060950.3:p.(Ter231=)	NC_000011.9:g.85342782_85347272dup	VUS	1 lab	0e92fbd613
2:21231209 APOB A>T	2	21231209	21231209	A	T	APOB	c.8531T>A	NM_000384.3	NP_000375.3:p.(Leu2844Gln)	NC_000002.11:g.21231209A>T	VUS	1 lab	0e948a5b79
8:126447553 MISSING Ref too long to show for this DEL>A	8	126447553	126469204	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.126447554_126469204del	VUS	1 lab	0e9ad20051
18:58038948 MC4R TAGAG>T	18	58038948	58038955	TAGAG	T	MC4R	c.631_634del	NM_005912.3	NP_005903.2:p.(Leu211MetfsTer6)	NC_000018.9:g.58038952_58038955del	(Likely) pathogenic	1 lab	0e9bc07d24
2:219679474 CYP27A1 C>T	2	219679474	219679474	C	T	CYP27A1	c.1470C>T	NM_000784.4	NP_000775.1:p.(Leu490=)	NC_000002.11:g.219679474C>T	(Likely) benign	1 lab	0e9c4979b2
9:13125357 MPDZ T>A	9	13125357	13125357	T	A	MPDZ	c.4665A>T	NM_003829.5	NP_003820.2:p.(Thr1555=)	NC_000009.11:g.13125357T>A	(Likely) benign	1 lab	0e9de09ad1
6:161173280 PLG T>C	6	161173280	161173280	T	C	PLG	c.2259T>C	NM_000301.5	NP_000292.1:p.(Thr753=)	NC_000006.11:g.161173280T>C	(Likely) benign	1 lab	0e9e159835
16:1004979 LMF1 T>C	16	1004979	1004979	T	C	LMF1	c.194-313A>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004979T>C	(Likely) benign	1 lab	0ea3be75aa
1:236922997 ACTN2 T>C	1	236922997	236922997	T	C	ACTN2	c.2302-27T>C	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922997T>C	(Likely) benign	1 lab	0ea3fd9aa8
4:170523739 MISSING A>Alt too long to show for this DUP	4	170523739	170613301	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.170523740_170613301dup	VUS	1 lab	0ea7f77b22
15:31332309 TRPM1 C>T	15	31332309	31332309	C	T	TRPM1	c.2367+12G>A	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31332309C>T	(Likely) benign	1 lab	0ea84ffb14
13:36124665 NBEA C>T	13	36124665	36124665	C	T	NBEA	c.6637C>T	NM_015678.5	NP_056493.3:p.(Arg2213Ter)	NC_000013.10:g.36124665C>T	(Likely) pathogenic	1 lab	0ead81b8ef
15:65321926 MTFMT C>T	15	65321926	65321926	C	T	MTFMT	c.26G>A	NM_139242.4	NP_640335.2:p.(Trp9Ter)	NC_000015.9:g.65321926C>T	(Likely) pathogenic	1 lab	0ebcfbd732
2:179410767 TTN-AS1 C>T	2	179410767	179410767	C	T	TTN-AS1	n.2043+3679C>T	NR_038272.1		NC_000002.11:g.179410767C>T	(Likely) benign	1 lab	0ebdb3391c
X:153640577 TAFAZZIN G>C	X	153640577	153640577	G	C	TAFAZZIN	c.238+26G>C	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153640577G>C	(Likely) benign	1 lab	0ec002c075
15:30010328 TJP1 T>TA	15	30010328	30010348	T	TA	TJP1	c.3877-7dup	NM_003257.5	NP_003248.3:p.?	NC_000015.9:g.30010348dup	(Likely) benign	1 lab	0ec020da7b
6:100895292 SIM1 C>A	6	100895292	100895292	C	A	SIM1	c.851-1G>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100895292C>A	(Likely) pathogenic	1 lab	0ecc44655c
16:28499968 CLN3 T>A	16	28499968	28499968	T	A	CLN3	c.238A>T	NM_001042432.2	NP_001035897.1:p.(Thr80Ser)	NC_000016.9:g.28499968T>A	(Likely) benign	1 lab	0ed68a21b7
6:71012640 COL9A1 TTTTC>T	6	71012640	71012647	TTTTC	T	COL9A1	c.-17_-14del	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.71012644_71012647del	(Likely) benign	1 lab	0edc433ebe
9:130236065 LRSAM1 T>C	9	130236065	130236065	T	C	LRSAM1	c.620-15T>C	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130236065T>C	(Likely) benign	1 lab	0edc4bc502
19:8159362 FBN3 G>T	19	8159362	8159362	G	T	FBN3	c.5873C>A	NM_032447.5	NP_115823.3:p.(Pro1958His)	NC_000019.9:g.8159362G>T	(Likely) benign	1 lab	0ee4044088
19:7512064 ARHGEF18 A>AT	19	7512064	7512075	A	AT	ARHGEF18	c.1011+21dup	NM_001130955.2	NP_001124427.2:p.?	NC_000019.9:g.7512075dup	(Likely) benign	1 lab	0ee42a0000
5:52358761 ITGA2 TAA>T	5	52358761	52358774	TAA	T	ITGA2	c.1602+14_1602+15del	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52358773_52358774del	(Likely) benign	1 lab	0ee7aa1839
9:137017143 WDR5 C>T	9	137017143	137017143	C	T	WDR5	c.623C>T	NM_017588.3	NP_060058.1:p.(Thr208Met)	NC_000009.11:g.137017143C>T	VUS	1 lab	0eea5c095d
8:19823276 LPL C>T	8	19823276	19823276	C	T	LPL	c.*455C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19823276C>T	(Likely) benign	1 lab	0eeb1e4408
7:99656939 MISSING C>Alt too long to show for this DUP	7	99656939	99690448	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.99656942_99690448dup	VUS	1 lab	0eebcfb303
9:35061700 VCP C>CACAAACAGTAT	9	35061700	35061708	C	CACAAACAGTAT	VCP	c.1082-15_1082-14insATACTGTTTGT	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061707_35061708insGTATACAAACA	(Likely) benign	1 lab	0eee993bb3
2:21238228 APOB G>A	2	21238228	21238228	G	A	APOB	c.3508+14C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238228G>A	(Likely) benign	1 lab	0ef211072f
5:82789387 VCAN G>A	5	82789387	82789387	G	A	VCAN	c.468G>A	NM_004385.5	NP_004376.2:p.(Ala156=)	NC_000005.9:g.82789387G>A	(Likely) benign	1 lab	0ef388f19d
11:2591900 KCNQ1 C>T	11	2591900	2591900	C	T	KCNQ1	c.520C>T	NM_000218.3	NP_000209.2:p.(Arg174Cys)	NC_000011.9:g.2591900C>T	(Likely) pathogenic	1 lab	0ef96c4980
18:47110093 LIPG G>A	18	47110093	47110093	G	A	LIPG	c.1325G>A	NM_006033.4	NP_006024.1:p.(Arg442Gln)	NC_000018.9:g.47110093G>A	(Likely) benign	1 lab	0efa87ce21
2:179586803 TTN T>G	2	179586803	179586803	T	G	TTN	c.18855A>C	NM_133378.4	NP_596869.4:p.(Gly6285=)	NC_000002.11:g.179586803T>G	(Likely) benign	1 lab	0efc9da4d5
5:1216670 SLC6A19 C>T	5	1216670	1216670	C	T	SLC6A19	c.888-3C>T	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1216670C>T	(Likely) benign	1 lab	0f01e4ab21
2:17750637 MISSING T>Alt too long to show for this DUP	2	17750637	17846682	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.17750639_17846682dup	(Likely) pathogenic	1 lab	0f022dec29
11:65321807 LTBP3 G>A	11	65321807	65321807	G	A	LTBP3	c.376C>T	NM_001130144.3	NP_001123616.1:p.(Arg126Ter)	NC_000011.9:g.65321807G>A	(Likely) pathogenic	1 lab	0f1116ee3f
6:135787503 AHI1 A>G	6	135787503	135787503	A	G	AHI1	c.198T>C	NM_001134831.2	NP_001128303.1:p.(Thr66=)	NC_000006.11:g.135787503A>G	(Likely) benign	1 lab	0f124d9558
12:125271955 SCARB1 T>TG	12	125271955	125271956	T	TG	SCARB1	c.1250dup	NM_001367981.1	NP_001354910.1:p.(Glu418ArgfsTer61)	NC_000012.11:g.125271956dup	VUS	1 lab	0f12c1d96f
3:48630086 COL7A1 C>T	3	48630086	48630086	C	T	COL7A1	c.893G>A	NM_000094.4	NP_000085.1:p.(Arg298Gln)	NC_000003.11:g.48630086C>T	VUS	1 lab	0f17aefd4a
4:119661893 SEC24D G>A	4	119661893	119661893	G	A	SEC24D	c.2166C>T	NM_001318066.2	NP_001304995.1:p.(Ile722=)	NC_000004.11:g.119661893G>A	(Likely) benign	1 lab	0f19fe5f03
16:89351045 ANKRD11 TTTTG>T	16	89351045	89351052	TTTTG	T	ANKRD11	c.1901_1904del	NM_001256182.2	NP_001243111.1:p.(Thr634AsnfsTer18)	NC_000016.9:g.89351049_89351052del	(Likely) pathogenic	1 lab	0f1bc83932
12:112036779 ATXN2 CTGT>C	12	112036779	112036784	CTGT	C	ATXN2	c.57_59del	NM_002973.4	NP_002964.4:p.(Gln28del)	NC_000012.11:g.112036782_112036784del	(Likely) benign	1 lab	0f1d069dc6
6:110988795 CDK19 A>T	6	110988795	110988795	A	T	CDK19	c.316-18T>A	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110988795A>T	(Likely) benign	1 lab	0f206464a0
3:38592692 SCN5A CCAGTGT>C	3	38592692	38592698	CCAGTGT	C	SCN5A	c.5165_5170del	NM_001099404.2	NP_001092874.1:p.(Asn1722_Gly1724delinsArg)	NC_000003.11:g.38592693_38592698del	(Likely) benign	1 lab	0f22226fd9
5:131927669 RAD50 G>A	5	131927669	131927669	G	A	RAD50	c.1736G>A	NM_005732.4	NP_005723.2:p.(Trp579Ter)	NC_000005.9:g.131927669G>A	(Likely) pathogenic	1 lab	0f28001f06
14:36988423 NKX2-1 G>A	14	36988423	36988423	G	A	NKX2-1	c.230C>T	NM_001079668.3	NP_001073136.1:p.(Ala77Val)	NC_000014.8:g.36988423G>A	VUS	1 lab	0f286f5d7d
16:88815820 PIEZO1 G>A	16	88815820	88815820	G	A	PIEZO1	c.132C>T	NM_001142864.4	NP_001136336.2:p.(Phe44=)	NC_000016.9:g.88815820G>A	(Likely) benign	1 lab	0f2af47ee6
2:179412245 TTN CTTTAA>C	2	179412245	179412253	CTTTAA	C	TTN	c.94103_94107del	NM_001267550.2	NP_001254479.2:p.(Ile31368SerfsTer34)	NC_000002.11:g.179412249_179412253del	(Likely) pathogenic	1 lab	0f30184b91
2:215657159 BARD1 T>C	2	215657159	215657159	T	C	BARD1	c.226A>G	NM_000465.4	NP_000456.2:p.(Ser76Gly)	NC_000002.11:g.215657159T>C	VUS	1 lab	0f32b08e95
10:73567019 CDH23 C>A	10	73567019	73567019	C	A	CDH23	c.8179-15C>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73567019C>A	(Likely) benign	1 lab	0f3f14cbb9
2:204735408 CTLA4 G>A	2	204735408	204735408	G	A	CTLA4				NC_000002.11:g.204735408G>A	(Likely) pathogenic	1 lab	a4cd512ade
3:193372764 OPA1 A>G	3	193372764	193372764	A	G	OPA1	c.2126A>G	NM_130837.3	NP_570850.2:p.(Asp709Gly)	NC_000003.11:g.193372764A>G	(Likely) pathogenic	1 lab	0f456c063c
1:237791367 RYR2 A>G	1	237791367	237791367	A	G	RYR2	c.6427A>G	NM_001035.3	NP_001026.2:p.(Ile2143Val)	NC_000001.10:g.237791367A>G	VUS	1 lab	0f45d14eb1
1:63063310 ANGPTL3 T>C	1	63063310	63063310	T	C	ANGPTL3	c.73T>C	NM_014495.4	NP_055310.1:p.(Ser25Pro)	NC_000001.10:g.63063310T>C	(Likely) benign	1 lab	0f470c4243
6:31919129 CFB TGA>T	6	31919129	31919137	TGA	T	CFB	c.1975_1976del	NM_001710.6	NP_001701.2:p.(Asp659CysfsTer8)	NC_000006.11:g.31919136_31919137del	(Likely) pathogenic	1 lab	0f4e5d4f52
2:179584839 TTN T>C	2	179584839	179584839	T	C	TTN	c.23530A>G	NM_001267550.2	NP_001254479.2:p.(Ile7844Val)	NC_000002.11:g.179584839T>C	VUS	1 lab	0f59c7d5a2
X:70444198 GJB1 T>A	X	70444198	70444198	T	A	GJB1	c.641T>A	NM_000166.6	NP_000157.1:p.(Ile214Asn)	NC_000023.10:g.70444198T>A	(Likely) pathogenic	1 lab	0f5fd47d34
6:56716407 DST A>G	6	56716407	56716407	A	G	DST	c.418-5T>C	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56716407A>G	(Likely) benign	1 lab	0f6a4086dc
20:29842784 MISSING Ref too long to show for this DEL>A	20	29842784	29904704	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.29842786_29904704del	VUS	1 lab	0f6bd44ff4
9:107620457 ABCA1 C>CT	9	107620457	107620468	C	CT	ABCA1	c.720+345dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620468dup	(Likely) benign	1 lab	0f6be6e3ef
1:201035444 CACNA1S C>T	1	201035444	201035444	C	T	CACNA1S	c.2658G>A	NM_000069.3	NP_000060.2:p.(Glu886=)	NC_000001.10:g.201035444C>T	(Likely) benign	1 lab	0f6e508683
9:80855221 CEP78 C>T	9	80855221	80855221	C	T	CEP78	c.440C>T	NM_001098802.3	NP_001092272.1:p.(Ser147Leu)	NC_000009.11:g.80855221C>T	VUS	1 lab	0f6fcaabaa
14:105238783 AKT1 G>A	14	105238783	105238783	G	A	AKT1	c.1179C>T	NM_005163.2	NP_005154.2:p.(Gly393=)	NC_000014.8:g.105238783G>A	(Likely) benign	1 lab	0f7bd865af
8:48522543 MISSING A>Alt too long to show for this DUP	8	48522543	49064979	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.48522545_49064979dup	(Likely) pathogenic	1 lab	0f88712634
9:107621187 ABCA1 C>A	9	107621187	107621187	C	A	ABCA1	c.544-208G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107621187C>A	(Likely) benign	1 lab	0f89882349
5:82835822 VCAN G>T	5	82835822	82835822	G	T	VCAN	c.7000G>T	NM_004385.5	NP_004376.2:p.(Glu2334Ter)	NC_000005.9:g.82835822G>T	VUS	1 lab	0f8c3b1e3e
X:73962407 NEXMIF G>C	X	73962407	73962407	G	C	NEXMIF	c.1985C>G	NM_001008537.3	NP_001008537.1:p.(Ala662Gly)	NC_000023.10:g.73962407G>C	(Likely) benign	1 lab	0f983ecda7
1:10318582 KIF1B G>A	1	10318582	10318582	G	A	KIF1B	c.215G>A	NM_015074.3	NP_055889.2:p.(Arg72His)	NC_000001.10:g.10318582G>A	VUS	1 lab	0f9c514603
3:53694272 CACNA1D C>T	3	53694272	53694272	C	T	CACNA1D	c.736C>T	NM_000720.4	NP_000711.1:p.(Arg246Ter)	NC_000003.11:g.53694272C>T	VUS	1 lab	0f9dbba011
7:107706895 LAMB4 T>C	7	107706895	107706895	T	C	LAMB4	c.2597A>G	NM_007356.3	NP_031382.2:p.(Asn866Ser)	NC_000007.13:g.107706895T>C	(Likely) benign	1 lab	0f9e660cb2
8:134266839 NDRG1 C>T	8	134266839	134266839	C	T	NDRG1	c.538-1G>A	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134266839C>T	(Likely) pathogenic	1 lab	0fae9106d2
2:21225964 APOB G>T	2	21225964	21225964	G	T	APOB	c.12330C>A	NM_000384.3	NP_000375.3:p.(Asn4110Lys)	NC_000002.11:g.21225964G>T	VUS	1 lab	0fb164bd2f
16:2137909 TSC2 G>A	16	2137909	2137909	G	A	TSC2	c.5035G>A	NM_000548.5	NP_000539.2:p.(Glu1679Lys)	NC_000016.9:g.2137909G>A	VUS	1 lab	0fb4c934e7
22:38522381 PLA2G6 C>T	22	38522381	38522381	C	T	PLA2G6	c.1424G>A	NM_003560.4	NP_003551.2:p.(Arg475Gln)	NC_000022.10:g.38522381C>T	VUS	1 lab	0fb4eab7ff
19:11226877 LDLR G>A	19	11226877	11226877	G	A	LDLR	c.1694G>A	NM_000527.5	NP_000518.1:p.(Gly565Asp)	NC_000019.9:g.11226877G>A	(Likely) pathogenic	1 lab	0fb79d7ea8
3:154898202 MME G>T	3	154898202	154898202	G	T	MME	c.2207G>T	NM_007289.4	NP_009220.2:p.(Arg736Leu)	NC_000003.11:g.154898202G>T	VUS	1 lab	0fbdf3dfa7
2:44101116 ABCG8 A>G	2	44101116	44101116	A	G	ABCG8	c.1402A>G	NM_022437.3	NP_071882.1:p.(Ile468Val)	NC_000002.11:g.44101116A>G	(Likely) benign	1 lab	0fbec0b123
15:93521513 CHD2 T>G	15	93521513	93521513	T	G	CHD2	c.2627T>G	NM_001271.4	NP_001262.3:p.(Leu876Trp)	NC_000015.9:g.93521513T>G	(Likely) pathogenic	1 lab	0fbf198945
11:116660918 APOA5 G>A	11	116660918	116660918	G	A	APOA5	c.1027C>T	NM_052968.5	NP_443200.2:p.(Arg343Cys)	NC_000011.9:g.116660918G>A	VUS	1 lab	0fc17f9412
2:179496982 TTN C>G	2	179496982	179496982	C	G	TTN	c.35935G>C	NM_133378.4	NP_596869.4:p.(Glu11979Gln)	NC_000002.11:g.179496982C>G	VUS	1 lab	0fc5150abc
5:156608056 ITK C>G	5	156608056	156608056	C	G	ITK	c.68C>G	NM_005546.4	NP_005537.3:p.(Pro23Arg)	NC_000005.9:g.156608056C>G	VUS	1 lab	0fc79e6bc7
15:48755549 FBN1 G>A	15	48755549	48755549	G	A	FBN1	c.5066-112C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48755549G>A	(Likely) benign	1 lab	0fcd0bd37b
12:106890611 POLR3B A>C	12	106890611	106890611	A	C	POLR3B	c.2899A>C	NM_018082.6	NP_060552.4:p.(Ser967Arg)	NC_000012.11:g.106890611A>C	(Likely) pathogenic	1 lab	0fd1ce3e7b
1:5987727 NPHP4 G>A	1	5987727	5987727	G	A	NPHP4	c.1423C>T	NM_015102.5	NP_055917.1:p.(Pro475Ser)	NC_000001.10:g.5987727G>A	(Likely) benign	1 lab	0fd2e9e5ac
9:117370 FOXD4 GCC>G	9	117370	117372	GCC	G	FOXD4	c.748_749del	NM_207305.5	NP_997188.2:p.(Gly250ProfsTer232)	NC_000009.11:g.117371_117372del	(Likely) benign	1 lab	0fdc033ab0
14:105173825 INF2 A>T	14	105173825	105173825	A	T	INF2	c.1221A>T	NM_001031714.4	NP_001026884.3:p.(Lys407Asn)	NC_000014.8:g.105173825A>T	VUS	1 lab	0fe02d95d1
2:21229254 APOB T>C	2	21229254	21229254	T	C	APOB	c.10486A>G	NM_000384.3	NP_000375.3:p.(Thr3496Ala)	NC_000002.11:g.21229254T>C	VUS	1 lab	0fe2687d13
10:121431767 BAG3 C>T	10	121431767	121431767	C	T	BAG3	c.508C>T	NM_004281.4	NP_004272.2:p.(Arg170Trp)	NC_000010.10:g.121431767C>T	VUS	1 lab	0fe28ca826
3:32207420 GPD1L G>T	3	32207420	32207420	G	T	GPD1L	c.*18G>T	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32207420G>T	(Likely) benign	1 lab	0fe2df9ea2
19:15288829 NOTCH3 A>G	19	15288829	15288829	A	G	NOTCH3	c.3910T>C	NM_000435.3	NP_000426.2:p.(Cys1304Arg)	NC_000019.9:g.15288829A>G	(Likely) pathogenic	1 lab	0fe505081e
4:110769358 LRIT3 A>G	4	110769358	110769358	A	G	LRIT3				NC_000004.11:g.110769358A>G	VUS	1 lab	0fe6c407ff
2:21229111 APOB G>A	2	21229111	21229111	G	A	APOB	c.10629C>T	NM_000384.3	NP_000375.3:p.(Asn3543=)	NC_000002.11:g.21229111G>A	(Likely) benign	1 lab	0febaf8c2d
9:107548375 ABCA1 C>A	9	107548375	107548375	C	A	ABCA1	c.6401+204G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548375C>A	(Likely) benign	1 lab	0ff551e4af
4:22389739 ADGRA3 T>A	4	22389739	22389739	T	A	ADGRA3	c.3555A>T	NM_145290.4	NP_660333.2:p.(Thr1185=)	NC_000004.11:g.22389739T>A	(Likely) benign	1 lab	1004772eb8
12:116434970 MED13L G>A	12	116434970	116434970	G	A	MED13L	c.2635C>T	NM_015335.5	NP_056150.1:p.(Pro879Ser)	NC_000012.11:g.116434970G>A	VUS	1 lab	100e47a9d5
19:10116375 COL5A3 G>T	19	10116375	10116375	G	T	COL5A3	c.453C>A	NM_015719.4	NP_056534.2:p.(Ala151=)	NC_000019.9:g.10116375G>T	(Likely) benign	1 lab	100f26fdbf
5:10256137 CCT5 C>T	5	10256137	10256137	C	T	CCT5	c.237C>T	NM_001306154.2	NP_001293083.1:p.(Ala79=)	NC_000005.9:g.10256137C>T	(Likely) benign	1 lab	1010f7c48a
11:6648603 DCHS1 A>G	11	6648603	6648603	A	G	DCHS1	c.5667T>C	NM_003737.4	NP_003728.1:p.(His1889=)	NC_000011.9:g.6648603A>G	(Likely) benign	1 lab	1018b6563a
19:45451743 APOC2 C>T	19	45451743	45451743	C	T	APOC2	c.8C>T	NM_000483.5	NP_000474.2:p.(Thr3Ile)	NC_000019.9:g.45451743C>T	VUS	1 lab	101c8f0753
16:66599286 MISSING T>Alt too long to show for this DUP	16	66599286	66615804	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.66599288_66615804dup	VUS	1 lab	1029a35a34
17:48655672 CACNA1G G>A	17	48655672	48655672	G	A	CACNA1G	c.2048G>A	NM_018896.5	NP_061496.2:p.(Arg683His)	NC_000017.10:g.48655672G>A	(Likely) benign	1 lab	102c7679fa
8:38912059 ADAM9 G>A	8	38912059	38912059	G	A	ADAM9	c.1362G>A	NM_003816.3	NP_003807.1:p.(Glu454=)	NC_000008.10:g.38912059G>A	(Likely) benign	1 lab	1031082ac5
11:68696782 IGHMBP2 G>C	11	68696782	68696782	G	C	IGHMBP2	c.1192G>C	NM_002180.3	NP_002171.2:p.(Ala398Pro)	NC_000011.9:g.68696782G>C	VUS	1 lab	1037639037
3:121980619 CASR A>T	3	121980619	121980619	A	T	CASR	c.737A>T	NM_000388.4	NP_000379.3:p.(Tyr246Phe)	NC_000003.11:g.121980619A>T	VUS	1 lab	103d8c004f
17:6368828 PITPNM3 A>Alt too long to show for this DUP	17	6368828	6446573	A	Alt too long to show for this DUP	PITPNM3	c.23-5170_1891-738dup	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6368830_6446573dup	VUS	1 lab	10439dcdce
16:919897 LMF1 A>T	16	919897	919897	A	T	LMF1	c.1003T>A	NM_001352018.2	NP_001338947.1:p.(Phe335Ile)	NC_000016.9:g.919897A>T	VUS	1 lab	1044baa474
16:70302236 AARS1 C>T	16	70302236	70302236	C	T	AARS1	c.1009G>A	NM_001605.3	NP_001596.2:p.(Glu337Lys)	NC_000016.9:g.70302236C>T	(Likely) pathogenic	1 lab	1044d1bf8f
3:123471377 MYLK A>G	3	123471377	123471377	A	G	MYLK	c.174T>C	NM_053025.4	NP_444253.3:p.(Gly58=)	NC_000003.11:g.123471377A>G	(Likely) benign	1 lab	1045061952
14:54418911 BMP4 G>C	14	54418911	54418911	G	C	BMP4	c.30C>G	NM_001347916.1	NP_001334845.1:p.(Val10=)	NC_000014.8:g.54418911G>C	(Likely) benign	1 lab	1047b6eab3
12:125270807 SCARB1 G>A	12	125270807	125270807	G	A	SCARB1	c.1497C>T	NM_001367981.1	NP_001354910.1:p.(Ala499=)	NC_000012.11:g.125270807G>A	(Likely) benign	1 lab	104b6bc7b1
11:68671285 MRPL21 A>AGCCTCTTCCCGC	11	68671285	68671291	A	AGCCTCTTCCCGC	MRPL21	c.-276_-275insGCGGGAAGAGGC	NM_181515.2	NP_852616.1:p.?	NC_000011.9:g.68671290_68671291insTTCCCGCGCCTC	(Likely) benign	1 lab	104bc8b4c7
12:49689036 PRPH G>A	12	49689036	49689036	G	A	PRPH	c.53G>A	NM_006262.4	NP_006253.2:p.(Arg18His)	NC_000012.11:g.49689036G>A	(Likely) benign	1 lab	1054593de6
4:65180311 TECRL GTGTGTGTGT>G	4	65180311	65180320	GTGTGTGTGT	G	TECRL	c.551+46_551+54del	NM_001010874.5	NP_001010874.2:p.?	NC_000004.11:g.65180312_65180320del	(Likely) benign	1 lab	1055ca35d7
1:201044681 CACNA1S C>T	1	201044681	201044681	C	T	CACNA1S	c.1890G>A	NM_000069.3	NP_000060.2:p.(Pro630=)	NC_000001.10:g.201044681C>T	(Likely) benign	1 lab	1056d92145
X:23398187 PTCHD1 T>G	X	23398187	23398187	T	G	PTCHD1	c.831T>G	NM_173495.3	NP_775766.2:p.(Ile277Met)	NC_000023.10:g.23398187T>G	VUS	1 lab	1060408bef
2:211421429 CPS1 T>G	2	211421429	211421429	T	G	CPS1	c.-29T>G	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211421429T>G	(Likely) benign	1 lab	106059e1ed
2:1652195 PXDN CCT>C	2	1652195	1652197	CCT	C	PXDN	c.3355_3356del	NM_012293.3	NP_036425.1:p.(Arg1119GlyfsTer72)	NC_000002.11:g.1652196_1652197del	(Likely) pathogenic	1 lab	1062949005
2:21232125 APOB C>T	2	21232125	21232125	C	T	APOB	c.7615G>A	NM_000384.3	NP_000375.3:p.(Val2539Ile)	NC_000002.11:g.21232125C>T	(Likely) benign	1 lab	10641bca87
4:114278277 ANK2 C>T	4	114278277	114278277	C	T	ANK2	c.8503C>T	NM_001148.6	NP_001139.3:p.(Pro2835Ser)	NC_000004.11:g.114278277C>T	(Likely) benign	1 lab	106553f516
1:215848140 USH2A T>C	1	215848140	215848140	T	C	USH2A	c.13113A>G	NM_206933.4	NP_996816.3:p.(Gln4371=)	NC_000001.10:g.215848140T>C	(Likely) benign	1 lab	1066d300be
1:161276654 MPZ G>T	1	161276654	161276654	G	T	MPZ	c.292C>A	NM_000530.8	NP_000521.2:p.(Arg98Ser)	NC_000001.10:g.161276654G>T	(Likely) pathogenic	1 lab	1067bd6129
6:112522809 LAMA4 C>T	6	112522809	112522809	C	T	LAMA4	c.503G>A	NM_001105206.3	NP_001098676.2:p.(Arg168Lys)	NC_000006.11:g.112522809C>T	VUS	1 lab	106cb00251
14:23876440 MYH6 C>T	14	23876440	23876440	C	T	MYH6	c.-8G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23876440C>T	(Likely) benign	1 lab	106cc02b8c
2:189853450 COL3A1 T>A	2	189853450	189853450	T	A	COL3A1	c.636+81T>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853450T>A	(Likely) benign	1 lab	1071be406d
19:49671322 TRPM4 G>A	19	49671322	49671322	G	A	TRPM4	c.416G>A	NM_017636.4	NP_060106.2:p.(Arg139His)	NC_000019.9:g.49671322G>A	VUS	1 lab	107407cada
16:15831337 MYH11 T>C	16	15831337	15831337	T	C	MYH11	c.3283A>G	NM_001040113.2	NP_001035202.1:p.(Lys1095Glu)	NC_000016.9:g.15831337T>C	VUS	1 lab	107bb88e18
2:61687765 MISSING Ref too long to show for this DEL>G	2	61687765	61839894	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.61687766_61839894del	(Likely) pathogenic	1 lab	107ddca0a3
3:63953620 ATXN7 C>T	3	63953620	63953620	C	T	ATXN7	c.33C>T	NM_001128149.3	NP_001121621.2:p.(Ser11=)	NC_000003.11:g.63953620C>T	(Likely) benign	1 lab	107e6701f9
9:72698727 MAMDC2 Ref too long to show for this DEL>T	9	72698727	72736790	Ref too long to show for this DEL	T	MAMDC2	c.149-24398_644-4285del	NM_153267.5	NP_694999.3:p.?	NC_000009.11:g.72698729_72736790del	VUS	1 lab	107ffdf0b9
19:11234327 LDLR C>T	19	11234327	11234327	C	T	LDLR	c.2311+307C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234327C>T	(Likely) benign	1 lab	108566a697
10:73767065 CHST3 C>A	10	73767065	73767065	C	A	CHST3	c.276C>A	NM_004273.5	NP_004264.2:p.(Ser92Arg)	NC_000010.10:g.73767065C>A	(Likely) benign	1 lab	1086e1cb0e
1:63063598 ANGPTL3 A>C	1	63063598	63063598	A	C	ANGPTL3	c.361A>C	NM_014495.4	NP_055310.1:p.(Asn121His)	NC_000001.10:g.63063598A>C	VUS	1 lab	10907c240c
16:69867652 MISSING T>Alt too long to show for this DUP	16	69867652	69976848	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.69867654_69976848dup	VUS	1 lab	109322a9fe
6:71011736 COL9A1 G>A	6	71011736	71011736	G	A	COL9A1	c.56C>T	NM_001851.6	NP_001842.3:p.(Pro19Leu)	NC_000006.11:g.71011736G>A	(Likely) benign	1 lab	10943030d1
6:32489933 HLA-DRB5 T>C	6	32489933	32489933	T	C	HLA-DRB5	c.119A>G	NM_002125.4	NP_002116.2:p.(Asp40Gly)	NC_000006.11:g.32489933T>C	(Likely) benign	1 lab	1094edca75
16:8898602 PMM2 G>GT	16	8898602	8898609	G	GT	PMM2	c.179-15dup	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8898609dup	(Likely) benign	1 lab	1099cafee9
6:157528371 ARID1B C>T	6	157528371	157528371	C	T	ARID1B	c.6345C>T	NM_001371656.1	NP_001358585.1:p.(Ser2115=)	NC_000006.11:g.157528371C>T	(Likely) benign	1 lab	109b33a68a
2:220500423 SLC4A3 A>G	2	220500423	220500423	A	G	SLC4A3	c.2082=	NM_001326559.2	NP_001313488.2:p.(Glu694=)	NC_000002.11:g.220500423A>G	(Likely) benign	1 lab	109cee5086
21:46876488 COL18A1 C>CATCTCACGCTTCTGGCT	21	46876488	46876505	C	CATCTCACGCTTCTGGCT	COL18A1	c.1045_1061dup	NM_130444.3	NP_569711.2:p.(Pro355SerfsTer190)	NC_000021.8:g.46876489_46876505dup	VUS	1 lab	109ea0c153
8:61741376 CHD7 G>C	8	61741376	61741376	G	C	CHD7	c.3522+11G>C	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61741376G>C	(Likely) benign	1 lab	10a374ec66
7:91670060 AKAP9 G>A	7	91670060	91670060	G	A	AKAP9	c.4765G>A	NM_005751.5	NP_005742.4:p.(Asp1589Asn)	NC_000007.13:g.91670060G>A	VUS	1 lab	10a580be3d
2:74590149 DCTN1 G>A	2	74590149	74590149	G	A	DCTN1	c.3501C>T	NM_004082.5	NP_004073.2:p.(His1167=)	NC_000002.11:g.74590149G>A	(Likely) benign	1 lab	10a67a5008
2:24962282 NCOA1 T>C	2	24962282	24962282	T	C	NCOA1	c.3202-19T>C	NM_001362950.1	NP_001349879.1:p.?	NC_000002.11:g.24962282T>C	(Likely) benign	1 lab	10a9b8ed95
9:133951347 LAMC3 G>A	9	133951347	133951347	G	A	LAMC3	c.3624G>A	NM_006059.4	NP_006050.3:p.(Glu1208=)	NC_000009.11:g.133951347G>A	(Likely) benign	1 lab	10aa57f1d8
1:55529156 PCSK9 G>A	1	55529156	55529156	G	A	PCSK9	c.1978G>A	NM_174936.4	NP_777596.2:p.(Asp660Asn)	NC_000001.10:g.55529156G>A	VUS	1 lab	10acf8eba0
X:100177791 XKRX G>A	X	100177791	100177791	G	A	XKRX	c.595C>T	NM_212559.3	NP_997724.2:p.(Leu199=)	NC_000023.10:g.100177791G>A	(Likely) benign	1 lab	10b534ebbb
15:67457255 SMAD3 G>A	15	67457255	67457255	G	A	SMAD3	c.229G>A	NM_005902.4	NP_005893.1:p.(Val77Met)	NC_000015.9:g.67457255G>A	(Likely) pathogenic	1 lab	10b5a8ff0c
16:89811492 FANCA C>T	16	89811492	89811492	C	T	FANCA	c.3514-13G>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89811492C>T	(Likely) benign	1 lab	10b6adc686
2:21228614 APOB A>T	2	21228614	21228614	A	T	APOB	c.11126T>A	NM_000384.3	NP_000375.3:p.(Val3709Glu)	NC_000002.11:g.21228614A>T	VUS	1 lab	10bb1bac9f
12:72028607 ZFC3H1 T>TA	12	72028607	72028620	T	TA	ZFC3H1	c.2239-3dup	NM_144982.5	NP_659419.3:p.?	NC_000012.11:g.72028620dup	(Likely) benign	1 lab	10bb5c7b36
17:78184644 SGSH C>T	17	78184644	78184644	C	T	SGSH	c.1116G>A	NM_000199.5	NP_000190.1:p.(Met372Ile)	NC_000017.10:g.78184644C>T	(Likely) benign	1 lab	10bb74341c
2:48026082 MSH6 C>T	2	48026082	48026082	C	T	MSH6	c.960C>T	NM_000179.3	NP_000170.1:p.(Pro320=)	NC_000002.11:g.48026082C>T	(Likely) benign	1 lab	10bc402f3c
3:184043636 EIF4G1 C>T	3	184043636	184043636	C	T	EIF4G1	c.3125-3C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184043636C>T	(Likely) benign	1 lab	10bd1260d0
X:13565792 MISSING T>Alt too long to show for this DUP	X	13565792	13632335	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13565793_13632335dup	(Likely) pathogenic	1 lab	10c1611c35
12:1906698 CACNA2D4 T>TG	12	1906698	1906701	T	TG	CACNA2D4	c.2998dup	NM_172364.5	NP_758952.4:p.(His1000ProfsTer50)	NC_000012.11:g.1906701dup	VUS	1 lab	10c410f29d
2:179394779 TTN T>C	2	179394779	179394779	T	C	TTN	c.98735A>G	NM_133378.4	NP_596869.4:p.(His32912Arg)	NC_000002.11:g.179394779T>C	VUS	1 lab	10c834d8bd
1:21900069 ALPL G>A	1	21900069	21900069	G	A	ALPL	c.863-89G>A	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21900069G>A	(Likely) benign	1 lab	10cf4cfa3c
19:1466862 APC2 C>T	19	1466862	1466862	C	T	APC2	c.3562C>T	NM_005883.3	NP_005874.1:p.(Gln1188Ter)	NC_000019.9:g.1466862C>T	(Likely) pathogenic	1 lab	10cf867204
3:129247766 RHO C>T	3	129247766	129247766	C	T	RHO				NC_000003.11:g.129247766C>T	(Likely) pathogenic	1 lab	cf5f95ac38
2:179444537 TTN C>T	2	179444537	179444537	C	T	TTN	c.67387G>A	NM_001267550.2	NP_001254479.2:p.(Val22463Ile)	NC_000002.11:g.179444537C>T	VUS	1 lab	10d18a6e5e
11:47368462 MYBPC3 G>T	11	47368462	47368462	G	T	MYBPC3	c.908+116C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368462G>T	(Likely) benign	1 lab	10d4bc4b91
19:41340599 MISSING Ref too long to show for this DEL>T	19	41340599	41381529	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.41340600_41381529del	VUS	1 lab	10d911d2b6
2:220146651 DNAJB2 G>A	2	220146651	220146651	G	A	DNAJB2	c.230-10G>A	NM_006736.6	NP_006727.2:p.?	NC_000002.11:g.220146651G>A	(Likely) benign	1 lab	10d97088a7
14:73659514 PSEN1 T>C	14	73659514	73659514	T	C	PSEN1	c.711T>C	NM_000021.4	NP_000012.1:p.(Phe237=)	NC_000014.8:g.73659514T>C	(Likely) benign	1 lab	10db4a4423
8:1906630 ARHGEF10 G>T	8	1906630	1906630	G	T	ARHGEF10	c.*1201G>T	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1906630G>T	(Likely) benign	1 lab	10dd9b8a4c
10:54031226 PRKG1 G>A	10	54031226	54031226	G	A	PRKG1	c.1245G>A	NM_001098512.3	NP_001091982.1:p.(Gly415=)	NC_000010.10:g.54031226G>A	(Likely) benign	1 lab	10e2428427
4:123665026 BBS12 C>T	4	123665026	123665026	C	T	BBS12	c.1979C>T	NM_001178007.2	NP_001171478.1:p.(Pro660Leu)	NC_000004.11:g.123665026C>T	(Likely) benign	1 lab	10e9424f07
4:106345407 PPA2 C>T	4	106345407	106345407	C	T	PPA2	c.601G>A	NM_176869.3	NP_789845.1:p.(Asp201Asn)	NC_000004.11:g.106345407C>T	VUS	1 lab	10f325d803
1:215848566 USH2A A>G	1	215848566	215848566	A	G	USH2A	c.12687T>C	NM_206933.4	NP_996816.3:p.(Gly4229=)	NC_000001.10:g.215848566A>G	(Likely) benign	1 lab	10f3de2192
11:116661780 APOA5 G>C	11	116661780	116661780	G	C	APOA5	c.165C>G	NM_052968.5	NP_443200.2:p.(Thr55=)	NC_000011.9:g.116661780G>C	(Likely) benign	1 lab	10f53068c8
11:66288728 BBS1 T>G	11	66288728	66288728	T	G	BBS1	c.724-13T>G	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66288728T>G	(Likely) benign	1 lab	10f980c0cc
6:87966524 ZNF292 T>C	6	87966524	87966524	T	C	ZNF292	c.2757T>C	NM_001351444.2	NP_001338373.1:p.(Asn919=)	NC_000006.11:g.87966524T>C	(Likely) benign	1 lab	110029c50d
2:44073448 ABCG8 C>G	2	44073448	44073448	C	G	ABCG8	c.320C>G	NM_022437.3	NP_071882.1:p.(Ser107Ter)	NC_000002.11:g.44073448C>G	(Likely) pathogenic	1 lab	110105cbab
1:12072534 MFN2 C>T	1	12072534	12072534	C	T	MFN2	c.*912C>T	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12072534C>T	(Likely) benign	1 lab	1102cff430
2:149226381 MBD5 C>A	2	149226381	149226381	C	A	MBD5	c.869C>A	NM_018328.5	NP_060798.2:p.(Ala290Glu)	NC_000002.11:g.149226381C>A	VUS	1 lab	1103bc3cfb
16:16256943 ABCC6 C>T	16	16256943	16256943	C	T	ABCC6	c.3071G>A	NM_001351800.1	NP_001338729.1:p.(Arg1024Gln)	NC_000016.9:g.16256943C>T	(Likely) pathogenic	1 lab	1104d12c3a
X:101480783 MISSING A>Alt too long to show for this DUP	X	101480783	101631904	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.101480785_101631904dup	VUS	1 lab	110679e1fb
1:12034766 PLOD1 C>G	1	12034766	12034766	C	G	PLOD1	c.2085C>G	NM_000302.4	NP_000293.2:p.(Gly695=)	NC_000001.10:g.12034766C>G	(Likely) benign	1 lab	110bc99441
10:13152504 OPTN GT>G	10	13152504	13152516	GT	G	OPTN	c.369+40del	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13152516del	(Likely) benign	1 lab	111845cb05
1:33272202 YARS1 G>A	1	33272202	33272202	G	A	YARS1	c.391C>T	NM_003680.4	NP_003671.1:p.(Leu131=)	NC_000001.10:g.33272202G>A	(Likely) benign	1 lab	111955e0ae
15:45394048 DUOX2 C>T	15	45394048	45394048	C	T	DUOX2	c.2794G>A	NM_001363711.2	NP_001350640.1:p.(Asp932Asn)	NC_000015.9:g.45394048C>T	VUS	1 lab	111a29ffa7
5:89990308 ADGRV1 G>A	5	89990308	89990308	G	A	ADGRV1	c.7735G>A	NM_032119.4	NP_115495.3:p.(Val2579Met)	NC_000005.9:g.89990308G>A	VUS	1 lab	111ca1d40f
18:42531896 SETBP1 C>A	18	42531896	42531896	C	A	SETBP1	c.2591C>A	NM_015559.3	NP_056374.2:p.(Thr864Lys)	NC_000018.9:g.42531896C>A	VUS	1 lab	111ddcffb4
7:128494831 FLNC G>A	7	128494831	128494831	G	A	FLNC	c.7000G>A	NM_001458.5	NP_001449.3:p.(Glu2334Lys)	NC_000007.13:g.128494831G>A	VUS	1 lab	112330cf70
11:108124621 ATM T>C	11	108124621	108124621	T	C	ATM	c.1979T>C	NM_000051.4	NP_000042.3:p.(Met660Thr)	NC_000011.9:g.108124621T>C	VUS	1 lab	112a0dc24d
4:100485353 MTTP TTAAG>T	4	100485353	100485358	TTAAG	T	MTTP	c.-141_-138del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100485355_100485358del	VUS	1 lab	112a923e4a
1:985614 AGRN C>T	1	985614	985614	C	T	AGRN	c.4566C>T	NM_001364727.2	NP_001351656.1:p.(Ala1522=)	NC_000001.10:g.985614C>T	(Likely) benign	1 lab	112da683bf
11:116708093 APOA1 G>T	11	116708093	116708093	G	T	APOA1	c.11C>A	NM_001318017.2	NP_001304946.1:p.(Ala4Glu)	NC_000011.9:g.116708093G>T	(Likely) benign	1 lab	1132f9157a
2:179462442 TTN T>C	2	179462442	179462442	T	C	TTN	c.57367A>G	NM_001267550.2	NP_001254479.2:p.(Thr19123Ala)	NC_000002.11:g.179462442T>C	VUS	1 lab	1138edc9de
8:10467619 RP1L1 C>A	8	10467619	10467619	C	A	RP1L1	c.3989G>T	NM_178857.6	NP_849188.4:p.(Gly1330Val)	NC_000008.10:g.10467619C>A	(Likely) benign	1 lab	113a668547
9:107546698 ABCA1 G>A	9	107546698	107546698	G	A	ABCA1	c.6684C>T	NM_005502.4	NP_005493.2:p.(Asp2228=)	NC_000009.11:g.107546698G>A	(Likely) benign	1 lab	1146349e69
5:90398017 ADGRV1 C>CT	5	90398017	90398027	C	CT	ADGRV1	c.18311-9dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90398027dup	(Likely) benign	1 lab	1147221f75
16:49823389 ZNF423 G>C	16	49823389	49823389	G	C	ZNF423	c.-105+9C>G	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49823389G>C	(Likely) benign	1 lab	114830106d
2:110922323 NPHP1 A>G	2	110922323	110922323	A	G	NPHP1	c.729-16T>C	NM_000272.5	NP_000263.2:p.?	NC_000002.11:g.110922323A>G	(Likely) benign	1 lab	1148d4387d
17:63164298 RGS9 C>T	17	63164298	63164298	C	T	RGS9	c.501-20C>T	NM_003835.4	NP_003826.2:p.?	NC_000017.10:g.63164298C>T	(Likely) benign	1 lab	114d04bd66
9:130586622 ENG G>A	9	130586622	130586622	G	A	ENG	c.1095C>T	NM_001114753.3	NP_001108225.1:p.(Asp365=)	NC_000009.11:g.130586622G>A	(Likely) benign	1 lab	11542a294e
12:57905478 MARS1 C>G	12	57905478	57905478	C	G	MARS1	c.1369-3C>G	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57905478C>G	VUS	1 lab	11554878bb
8:100148968 VPS13B A>G	8	100148968	100148968	A	G	VPS13B	c.1639A>G	NM_017890.5	NP_060360.3:p.(Thr547Ala)	NC_000008.10:g.100148968A>G	(Likely) benign	1 lab	115bf585ff
19:11200090 LDLR C>G	19	11200090	11200090	C	G	LDLR				NC_000019.9:g.11200090C>G	(Likely) pathogenic	1 lab	115c4e4f60
9:111653606 ELP1 C>T	9	111653606	111653606	C	T	ELP1	c.3037G>A	NM_003640.5	NP_003631.2:p.(Gly1013Ser)	NC_000009.11:g.111653606C>T	(Likely) benign	1 lab	115fd3a86d
8:100821713 VPS13B T>C	8	100821713	100821713	T	C	VPS13B	c.8127T>C	NM_017890.5	NP_060360.3:p.(Ala2709=)	NC_000008.10:g.100821713T>C	(Likely) benign	1 lab	11624a0fb6
5:176645527 NSD1 Ref too long to show for this DEL>C	5	176645527	176668089	Ref too long to show for this DEL	C	NSD1	c.3796+6332_4302+1223del	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176645528_176668089del	VUS	1 lab	116e80d3a0
11:116701532 APOC3 G>A	11	116701532	116701532	G	A	APOC3	c.99G>A	NM_000040.3	NP_000031.1:p.(Gln33=)	NC_000011.9:g.116701532G>A	(Likely) benign	1 lab	116e824728
16:89346123 ANKRD11 G>A	16	89346123	89346123	G	A	ANKRD11	c.6827C>T	NM_001256182.2	NP_001243111.1:p.(Pro2276Leu)	NC_000016.9:g.89346123G>A	(Likely) benign	1 lab	117664b327
17:7804252 CHD3 A>T	17	7804252	7804252	A	T	CHD3	c.3061A>T	NM_001005273.3	NP_001005273.1:p.(Ile1021Phe)	NC_000017.10:g.7804252A>T	(Likely) pathogenic	1 lab	118acd9e6f
1:161276532 MPZ C>G	1	161276532	161276532	C	G	MPZ	c.414G>C	NM_000530.8	NP_000521.2:p.(Lys138Asn)	NC_000001.10:g.161276532C>G	(Likely) pathogenic	1 lab	118b85a04a
8:19809447 LPL C>T	8	19809447	19809447	C	T	LPL	c.417C>T	NM_000237.3	NP_000228.1:p.(Ile139=)	NC_000008.10:g.19809447C>T	(Likely) benign	1 lab	118e90cf44
4:121720916 PRDM5 TAGAC>T	4	121720916	121720922	TAGAC	T	PRDM5	c.946-20_946-17del	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121720919_121720922del	(Likely) benign	1 lab	119116794b
8:95160966 CDH17 G>T	8	95160966	95160966	G	T	CDH17	c.1927+6C>A	NM_001144663.2	NP_001138135.1:p.?	NC_000008.10:g.95160966G>T	(Likely) benign	1 lab	1192ae89ef
2:189858764 COL3A1 G>C	2	189858764	189858764	G	C	COL3A1	c.1150G>C	NM_000090.4	NP_000081.2:p.(Gly384Arg)	NC_000002.11:g.189858764G>C	(Likely) pathogenic	1 lab	119b5e2544
16:2112948 TSC2 G>A	16	2112948	2112948	G	A	TSC2	c.1362-25G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2112948G>A	(Likely) benign	1 lab	11aa507f38
9:73255510 TRPM3 C>T	9	73255510	73255510	C	T	TRPM3	c.1487G>A	NM_001366147.2	NP_001353076.1:p.(Arg496His)	NC_000009.11:g.73255510C>T	VUS	1 lab	11ab94382b
12:50499998 GPD1 G>A	12	50499998	50499998	G	A	GPD1	c.361-73G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50499998G>A	(Likely) benign	1 lab	12895c3fe0
21:47721401 MISSING Ref too long to show for this DEL>T	21	47721401	48101871	Ref too long to show for this DEL	T	MISSING				NC_000021.8:g.47721404_48101871del	(Likely) pathogenic	1 lab	11ac0db10b
22:25601325 CRYBB3 G>A	22	25601325	25601325	G	A	CRYBB3	c.466G>A	NM_004076.5	NP_004067.1:p.(Gly156Arg)	NC_000022.10:g.25601325G>A	(Likely) pathogenic	1 lab	11aef43add
18:8784395 MTCL1 G>A	18	8784395	8784395	G	A	MTCL1	c.1285G>A	NM_015210.4	NP_056025.2:p.(Gly429Arg)	NC_000018.9:g.8784395G>A	VUS	1 lab	11b1f5497a
15:48805631 FBN1 G>A	15	48805631	48805631	G	A	FBN1	c.1588+115C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48805631G>A	(Likely) benign	1 lab	11b2c2694b
5:172660521 NKX2-5 AAT>A	5	172660521	172660524	AAT	A	NKX2-5	c.335-19_335-18del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523_172660524del	(Likely) benign	1 lab	11b3d9f729
10:89712006 PTEN C>T	10	89712006	89712006	C	T	PTEN	c.624C>T	NM_000314.8	NP_000305.3:p.(Gly208=)	NC_000010.10:g.89712006C>T	(Likely) benign	1 lab	11b4b060b3
11:65320440 LTBP3 G>A	11	65320440	65320440	G	A	LTBP3	c.1077C>T	NM_001130144.3	NP_001123616.1:p.(Cys359=)	NC_000011.9:g.65320440G>A	(Likely) benign	1 lab	11b5650434
2:44047123 ABCG5 G>C	2	44047123	44047123	G	C	ABCG5	c.1580C>G	NM_022436.3	NP_071881.1:p.(Pro527Arg)	NC_000002.11:g.44047123G>C	VUS	1 lab	11b5bedf7f
15:73636153 HCN4 C>T	15	73636153	73636153	C	T	HCN4	c.786-4G>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73636153C>T	(Likely) benign	1 lab	11b734e877
6:39883911 MOCS1 G>A	6	39883911	39883911	G	A	MOCS1	c.484C>T	NM_005943.6	NP_005934.2:p.(Arg162Trp)	NC_000006.11:g.39883911G>A	VUS	1 lab	11b7484535
8:24813966 NEFL G>A	8	24813966	24813966	G	A	NEFL	c.64C>T	NM_006158.5	NP_006149.2:p.(Pro22Ser)	NC_000008.10:g.24813966G>A	(Likely) pathogenic	1 lab	11b8568f15
X:70443625 GJB1 T>C	X	70443625	70443625	T	C	GJB1	c.68T>C	NM_000166.6	NP_000157.1:p.(Val23Ala)	NC_000023.10:g.70443625T>C	(Likely) pathogenic	1 lab	11b8b3bc1c
11:2591946 KCNQ1 G>A	11	2591946	2591946	G	A	KCNQ1	c.566G>A	NM_000218.3	NP_000209.2:p.(Gly189Glu)	NC_000011.9:g.2591946G>A	(Likely) pathogenic	1 lab	11ecad429e
2:179587089 TTN A>G	2	179587089	179587089	A	G	TTN	c.22425T>C	NM_001267550.2	NP_001254479.2:p.(Thr7475=)	NC_000002.11:g.179587089A>G	(Likely) benign	1 lab	11bcf3080c
12:2791800 CACNA1C T>C	12	2791800	2791800	T	C	CACNA1C	c.5778T>C	NM_199460.4	NP_955630.3:p.(His1926=)	NC_000012.11:g.2791800T>C	(Likely) benign	1 lab	11c27f598b
1:248059078 OR2W3 G>A	1	248059078	248059078	G	A	OR2W3	c.190G>A	NM_001001957.2	NP_001001957.2:p.(Ala64Thr)	NC_000001.10:g.248059078G>A	(Likely) benign	1 lab	11cdd56185
2:189852722 COL3A1 C>T	2	189852722	189852722	C	T	COL3A1	c.529-85C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189852722C>T	(Likely) benign	1 lab	11d0fde391
3:38627533 SCN5A C>A	3	38627533	38627533	C	A	SCN5A	c.2437-1G>T	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38627533C>A	(Likely) pathogenic	1 lab	11d543a831
19:50334159 MED25 G>GCCTCCTGCCCCTGCTCCTT	19	50334159	50334186	G	GCCTCCTGCCCCTGCTCCTT	MED25	c.1101+24_1101+42dup	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50334168_50334186dup	(Likely) benign	1 lab	11d698515f
7:2760749 MISSING Ref too long to show for this DEL>A	7	2760749	2932473	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.2760750_2932473del	VUS	1 lab	11d902ddbe
1:161276557 MPZ T>C	1	161276557	161276557	T	C	MPZ	c.389A>G	NM_000530.8	NP_000521.2:p.(Lys130Arg)	NC_000001.10:g.161276557T>C	(Likely) pathogenic	1 lab	11dabe325d
10:126691579 CTBP2 C>T	10	126691579	126691579	C	T	CTBP2	c.1928G>A	NM_022802.3	NP_073713.2:p.(Arg643Gln)	NC_000010.10:g.126691579C>T	(Likely) benign	1 lab	11e79abaaa
4:119736796 SEC24D A>C	4	119736796	119736796	A	C	SEC24D	c.483T>G	NM_014822.4	NP_055637.2:p.(Pro161=)	NC_000004.11:g.119736796A>C	(Likely) benign	1 lab	11ea2bf1c0
2:21225529 APOB G>A	2	21225529	21225529	G	A	APOB	c.12765C>T	NM_000384.3	NP_000375.3:p.(Phe4255=)	NC_000002.11:g.21225529G>A	(Likely) benign	1 lab	11f4240694
12:22066006 ABCC9 G>A	12	22066006	22066006	G	A	ABCC9	c.817-6C>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066006G>A	(Likely) benign	1 lab	11f55993b1
15:58840582 LIPC G>A	15	58840582	58840582	G	A	LIPC	c.862G>A	NM_000236.3	NP_000227.2:p.(Asp288Asn)	NC_000015.9:g.58840582G>A	VUS	1 lab	11ff4b47f5
10:90707108 ACTA2 G>A	10	90707108	90707108	G	A	ACTA2	c.165C>T	NM_001141945.2	NP_001135417.1:p.(Tyr55=)	NC_000010.10:g.90707108G>A	(Likely) benign	1 lab	120104a6d5
11:65306983 LTBP3 A>AC	11	65306983	65306985	A	AC	LTBP3	c.3628+35dup	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65306985dup	(Likely) benign	1 lab	1201c0ece5
18:25589769 CDH2 G>A	18	25589769	25589769	G	A	CDH2	c.614C>T	NM_001792.5	NP_001783.2:p.(Pro205Leu)	NC_000018.9:g.25589769G>A	VUS	1 lab	1208b5a839
1:247726081 MISSING T>Alt too long to show for this DUP	1	247726081	248060929	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.247726082_248060929dup	VUS	1 lab	12091b4488
17:68171840 KCNJ2 C>T	17	68171840	68171840	C	T	KCNJ2	c.660C>T	NM_000891.3	NP_000882.1:p.(Ser220=)	NC_000017.10:g.68171840C>T	(Likely) benign	1 lab	12093d4f0b
10:69959342 MYPN G>T	10	69959342	69959342	G	T	MYPN	c.3493+10G>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69959342G>T	(Likely) benign	1 lab	120c009316
15:23891526 MAGEL2 G>T	15	23891526	23891526	G	T	MAGEL2	c.1364C>A	NM_019066.5	NP_061939.3:p.(Pro455Gln)	NC_000015.9:g.23891526G>T	VUS	1 lab	120c2f61e7
9:107583774 ABCA1 C>T	9	107583774	107583774	C	T	ABCA1	c.2842G>A	NM_005502.4	NP_005493.2:p.(Gly948Arg)	NC_000009.11:g.107583774C>T	(Likely) pathogenic	1 lab	120eccbcab
4:113627362 ANK2 C>T	4	113627362	113627362	C	T	ANK2	c.61C>T	NM_001354269.3	NP_001341198.1:p.(Arg21Trp)	NC_000004.11:g.113627362C>T	VUS	1 lab	1214ea5616
11:47356274 MYBPC3 T>A	11	47356274	47356274	T	A	MYBPC3	c.2905+319A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356274T>A	(Likely) benign	1 lab	12153c8a6b
2:44101537 ABCG8 A>ATT	2	44101537	44101538	A	ATT	ABCG8	c.1412-9_1412-8insTT	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101537_44101538insTT	(Likely) benign	1 lab	121c5aa09f
14:105561546 MISSING Ref too long to show for this DEL>G	14	105561546	106291849	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.105561549_106291849del	(Likely) pathogenic	1 lab	121cc25ee9
2:44039856 ABCG5 G>A	2	44039856	44039856	G	A	ABCG5	c.*399C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44039856G>A	(Likely) benign	1 lab	1220ce3db7
14:23863270 MYH6 GC>G	14	23863270	23863272	GC	G	MYH6	c.2685+6del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23863272del	(Likely) benign	1 lab	1221bd8f71
15:45392099 DUOX2 G>A	15	45392099	45392099	G	A	DUOX2	c.3185-9C>T	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45392099G>A	(Likely) benign	1 lab	122647b2ce
16:28883661 SH2B1 G>A	16	28883661	28883661	G	A	SH2B1	c.1664G>A	NM_015503.3	NP_056318.2:p.(Arg555His)	NC_000016.9:g.28883661G>A	VUS	1 lab	122681289c
6:56462641 DST A>G	6	56462641	56462641	A	G	DST	c.5735T>C	NM_001144769.5	NP_001138241.1:p.(Ile1912Thr)	NC_000006.11:g.56462641A>G	VUS	1 lab	1227fa1483
18:28672132 DSC2 T>C	18	28672132	28672132	T	C	DSC2	c.286A>G	NM_004949.5	NP_004940.1:p.(Ile96Val)	NC_000018.9:g.28672132T>C	VUS	1 lab	122847f0c4
8:10464750 RP1L1 G>A	8	10464750	10464750	G	A	RP1L1	c.6858C>T	NM_178857.6	NP_849188.4:p.(Asp2286=)	NC_000008.10:g.10464750G>A	(Likely) benign	1 lab	122f0ced32
16:1570589 IFT140 C>T	16	1570589	1570589	C	T	IFT140	c.3660+14G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1570589C>T	(Likely) benign	1 lab	122f549f63
2:179640303 TTN G>A	2	179640303	179640303	G	A	TTN	c.6288C>T	NM_001267550.2	NP_001254479.2:p.(His2096=)	NC_000002.11:g.179640303G>A	(Likely) benign	1 lab	1230841c81
11:63403670 ATL3 C>T	11	63403670	63403670	C	T	ATL3	c.978+9G>A	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63403670C>T	(Likely) benign	1 lab	123111c677
5:6620277 NSUN2 CATCT>C	5	6620277	6620285	CATCT	C	NSUN2	c.753_756del	NM_017755.6	NP_060225.4:p.(Ile251MetfsTer26)	NC_000005.9:g.6620282_6620285del	(Likely) pathogenic	1 lab	1232a6d65a
5:6611865 NSUN2 Ref too long to show for this DEL>C	5	6611865	6613189	Ref too long to show for this DEL	C	NSUN2	c.1022-1277_1067del	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6611867_6613189del	VUS	1 lab	1233688258
2:21229646 APOB T>A	2	21229646	21229646	T	A	APOB	c.10094A>T	NM_000384.3	NP_000375.3:p.(His3365Leu)	NC_000002.11:g.21229646T>A	VUS	1 lab	1235d18d84
3:108557690 MISSING G>Alt too long to show for this DUP	3	108557690	108627074	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.108557693_108627074dup	VUS	1 lab	13246aebf7
8:19816703 LPL CCTGA>C	8	19816703	19816709	CCTGA	C	LPL	c.1019-65_1019-62del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816706_19816709del	(Likely) benign	1 lab	1239f339bf
2:21245806 APOB A>G	2	21245806	21245806	A	G	APOB	c.2713T>C	NM_000384.3	NP_000375.3:p.(Phe905Leu)	NC_000002.11:g.21245806A>G	(Likely) benign	1 lab	123d840135
11:68216472 LRP5 C>T	11	68216472	68216472	C	T	LRP5	c.3039C>T	NM_001291902.2	NP_001278831.1:p.(Pro1013=)	NC_000011.9:g.68216472C>T	(Likely) benign	1 lab	123e10ea75
2:189949952 COL5A2 C>T	2	189949952	189949952	C	T	COL5A2	c.745-13G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189949952C>T	(Likely) benign	1 lab	1242609726
2:189872988 COL3A1 A>G	2	189872988	189872988	A	G	COL3A1	c.3525+120A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189872988A>G	(Likely) benign	1 lab	1245d2ad5b
11:76826607 CAPN5 G>A	11	76826607	76826607	G	A	CAPN5	c.866G>A	NM_004055.5	NP_004046.2:p.(Arg289Gln)	NC_000011.9:g.76826607G>A	VUS	1 lab	1247e8f98c
22:25008067 MISSING Ref too long to show for this DEL>G	22	25008067	25033632	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.25008070_25033632del	VUS	1 lab	12484e2f89
19:17132902 CPAMD8 G>A	19	17132902	17132902	G	A	CPAMD8	c.182C>T	NM_015692.5	NP_056507.3:p.(Thr61Met)	NC_000019.9:g.17132902G>A	(Likely) benign	1 lab	1249341872
19:33902652 PEPD A>G	19	33902652	33902652	A	G	PEPD	c.744T>C	NM_000285.4	NP_000276.2:p.(Gly248=)	NC_000019.9:g.33902652A>G	(Likely) benign	1 lab	124dc7ea75
1:986931 AGRN C>A	1	986931	986931	C	A	AGRN	c.5166C>A	NM_001364727.2	NP_001351656.1:p.(Gly1722=)	NC_000001.10:g.986931C>A	(Likely) benign	1 lab	12527df890
10:90988066 LIPA T>C	10	90988066	90988066	T	C	LIPA	c.319A>G	NM_000235.4	NP_000226.2:p.(Ile107Val)	NC_000010.10:g.90988066T>C	VUS	1 lab	125bc85c55
18:47095822 LIPG T>C	18	47095822	47095822	T	C	LIPG	c.475T>C	NM_006033.4	NP_006024.1:p.(Ser159Pro)	NC_000018.9:g.47095822T>C	VUS	1 lab	125d526e5e
6:7584078 DSP C>T	6	7584078	7584078	C	T	DSP	c.6583C>T	NM_004415.4	NP_004406.2:p.(His2195Tyr)	NC_000006.11:g.7584078C>T	VUS	1 lab	125f294544
10:69933996 MYPN A>G	10	69933996	69933996	A	G	MYPN	c.2147A>G	NM_032578.4	NP_115967.2:p.(Gln716Arg)	NC_000010.10:g.69933996A>G	VUS	1 lab	1260a62b1e
11:47354115 MYBPC3 A>G	11	47354115	47354115	A	G	MYBPC3	c.3627+2T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354115A>G	(Likely) pathogenic	1 lab	1269337bbe
16:918956 LMF1 C>T	16	918956	918956	C	T	LMF1	c.1118G>A	NM_001352018.2	NP_001338947.1:p.(Arg373Lys)	NC_000016.9:g.918956C>T	VUS	1 lab	126f22920b
X:29398657 MISSING Ref too long to show for this DEL>T	X	29398657	30849121	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.29398658_30849121del	(Likely) pathogenic	1 lab	1273cee7e3
19:40909753 PRX T>C	19	40909753	40909753	T	C	PRX	c.44A>G	NM_020956.2	NP_066007.1:p.(Glu15Gly)	NC_000019.9:g.40909753T>C	(Likely) benign	1 lab	1277325df8
1:236924289 ACTN2 CAT>C	1	236924289	236924291	CAT	C	ACTN2	c.2368-25_2368-24del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924290_236924291del	(Likely) benign	1 lab	1279ffd286
1:93584885 MTF2 C>T	1	93584885	93584885	C	T	MTF2	c.729-5C>T	NM_007358.4	NP_031384.1:p.?	NC_000001.10:g.93584885C>T	(Likely) benign	1 lab	127ad219a5
2:73718045 ALMS1 C>G	2	73718045	73718045	C	G	ALMS1	c.8962C>G	NM_015120.4	NP_055935.4:p.(Leu2988Val)	NC_000002.11:g.73718045C>G	VUS	1 lab	127e05d9ac
1:25890139 LDLRAP1 G>A	1	25890139	25890139	G	A	LDLRAP1	c.617-13G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890139G>A	(Likely) pathogenic	1 lab	12814fa0c7
3:129252504 RHO C>T	3	129252504	129252504	C	T	RHO	c.990C>T	NM_000539.3	NP_000530.1:p.(Asp330=)	NC_000003.11:g.129252504C>T	(Likely) benign	1 lab	128539edfe
1:236882307 ACTN2 G>A	1	236882307	236882307	G	A	ACTN2	c.355G>A	NM_001103.4	NP_001094.1:p.(Ala119Thr)	NC_000001.10:g.236882307G>A	(Likely) pathogenic	1 lab	128ab0f558
3:170185174 SLC7A14 C>T	3	170185174	170185174	C	T	SLC7A14	c.1994-9G>A	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170185174C>T	(Likely) benign	1 lab	1290984327
7:36633996 AOAH A>Alt too long to show for this DUP	7	36633996	36671689	A	Alt too long to show for this DUP	AOAH	c.475_886dup	NM_001637.4	NP_001628.1:p.(Leu296HisfsTer15)	NC_000007.13:g.36633998_36671689dup	VUS	1 lab	1292499c13
19:10265116 DNMT1 G>T	19	10265116	10265116	G	T	DNMT1	c.1872C>A	NM_001130823.3	NP_001124295.1:p.(Thr624=)	NC_000019.9:g.10265116G>T	(Likely) benign	1 lab	1292e3fb2a
19:16589984 CALR3 G>A	19	16589984	16589984	G	A	CALR3	c.1113C>T	NM_145046.5	NP_659483.2:p.(His371=)	NC_000019.9:g.16589984G>A	(Likely) benign	1 lab	12954c4e48
12:21370144 SLCO1B1 G>A	12	21370144	21370144	G	A	SLCO1B1	c.1589G>A	NM_006446.5	NP_006437.3:p.(Cys530Tyr)	NC_000012.11:g.21370144G>A	VUS	1 lab	1298395dc5
5:172660518 NKX2-5 AAAAATAAATAAAAAAAT>A	5	172660518	172660539	AAAAATAAATAAAAAAAT	A	NKX2-5	c.335-31_335-15del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660523_172660539del	(Likely) benign	1 lab	129ae5e696
X:43832724 NDP GGAGAGAGAGAGGGA>G	X	43832724	43832763	GGAGAGAGAGAGGGA	G	NDP				NC_000023.10:g.43832750_43832763del	(Likely) benign	1 lab	129d9065e3
12:112117149 BRAP C>CA	12	112117149	112117159	C	CA	BRAP	c.444-6dup	NM_006768.5	NP_006759.3:p.?	NC_000012.11:g.112117159dup	(Likely) benign	1 lab	12a04ff9c4
4:16215451 TAPT1 C>T	4	16215451	16215451	C	T	TAPT1	c.270G>A	NM_153365.3	NP_699196.2:p.(Lys90=)	NC_000004.11:g.16215451C>T	(Likely) benign	1 lab	12a098e589
12:30833485 IPO8 A>G	12	30833485	30833485	A	G	IPO8	c.570T>C	NM_006390.4	NP_006381.2:p.(Leu190=)	NC_000012.11:g.30833485A>G	(Likely) benign	1 lab	12a11156c6
2:179472189 TTN A>G	2	179472189	179472189	A	G	TTN	c.53226T>C	NM_001267550.2	NP_001254479.2:p.(Tyr17742=)	NC_000002.11:g.179472189A>G	(Likely) benign	1 lab	12a1a1a8c2
7:73469099 ELN G>A	7	73469099	73469099	G	A	ELN	c.1150G>A	NM_000501.4	NP_000492.2:p.(Gly384Arg)	NC_000007.13:g.73469099G>A	VUS	1 lab	12a4376c35
2:3461389 TRAPPC12 C>T	2	3461389	3461389	C	T	TRAPPC12	c.1531-3C>T	NM_016030.6	NP_057114.5:p.?	NC_000002.11:g.3461389C>T	VUS	1 lab	12ae65d7ec
16:929594 LMF1 G>A	16	929594	929594	G	A	LMF1	c.474C>T	NM_001352018.2	NP_001338947.1:p.(His158=)	NC_000016.9:g.929594G>A	(Likely) benign	1 lab	12b28065bd
7:154659792 DPP6 T>C	7	154659792	154659792	T	C	DPP6	c.1802T>C	NM_130797.4	NP_570629.2:p.(Ile601Thr)	NC_000007.13:g.154659792T>C	VUS	1 lab	12b7ddd453
8:42008185 MISSING A>Alt too long to show for this DUP	8	42008185	42081164	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.42008186_42081164dup	VUS	1 lab	12b8901b7b
1:216497671 USH2A G>C	1	216497671	216497671	G	C	USH2A	c.1167C>G	NM_206933.4	NP_996816.3:p.(Phe389Leu)	NC_000001.10:g.216497671G>C	VUS	1 lab	12b9463dcd
12:27800792 PPFIBP1 G>T	12	27800792	27800792	G	T	PPFIBP1	c.471+17G>T	NM_177444.3	NP_803193.3:p.?	NC_000012.11:g.27800792G>T	(Likely) benign	1 lab	12bae9252c
9:94842327 SPTLC1 C>T	9	94842327	94842327	C	T	SPTLC1	c.398G>A	NM_006415.4	NP_006406.1:p.(Cys133Tyr)	NC_000009.11:g.94842327C>T	(Likely) pathogenic	1 lab	12be484743
17:58232697 CA4 T>A	17	58232697	58232697	T	A	CA4	c.81T>A	NM_000717.5	NP_000708.1:p.(Val27=)	NC_000017.10:g.58232697T>A	VUS	1 lab	12bff9b371
2:21228771 APOB C>T	2	21228771	21228771	C	T	APOB	c.10969G>A	NM_000384.3	NP_000375.3:p.(Ala3657Thr)	NC_000002.11:g.21228771C>T	VUS	1 lab	12c91bb833
3:100708467 MISSING C>Alt too long to show for this DUP	3	100708467	100741881	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.100708469_100741881dup	VUS	1 lab	12c92d7112
2:27302080 EMILIN1 C>G	2	27302080	27302080	C	G	EMILIN1	c.147C>G	NM_007046.4	NP_008977.1:p.(Ala49=)	NC_000002.11:g.27302080C>G	(Likely) benign	1 lab	12c9e667cf
11:116701907 APOC3 TTCTTTCTTTCTTTCTTTCTTTC>T	11	116701907	116701930	TTCTTTCTTTCTTTCTTTCTTTC	T	APOC3	c.179+297_179+318del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701909_116701930del	(Likely) benign	1 lab	12cdfa5b5b
12:122242781 SETD1B A>T	12	122242781	122242781	A	T	SETD1B	c.138A>T	NM_001353345.2	NP_001340274.1:p.(Lys46Asn)	NC_000012.11:g.122242781A>T	VUS	1 lab	12ce47331c
9:107586800 ABCA1 C>T	9	107586800	107586800	C	T	ABCA1	c.2602G>A	NM_005502.4	NP_005493.2:p.(Glu868Lys)	NC_000009.11:g.107586800C>T	VUS	1 lab	12d1ff3bdf
6:7579963 DSP A>G	6	7579963	7579963	A	G	DSP	c.3540A>G	NM_004415.4	NP_004406.2:p.(Glu1180=)	NC_000006.11:g.7579963A>G	(Likely) benign	1 lab	12dd08d217
12:88443015 CEP290 A>G	12	88443015	88443015	A	G	CEP290	c.7386T>C	NM_025114.4	NP_079390.3:p.(Ala2462=)	NC_000012.11:g.88443015A>G	(Likely) benign	1 lab	12e150224e
12:125302181 SCARB1 C>T	12	125302181	125302181	C	T	SCARB1	c.199G>A	NM_001367981.1	NP_001354910.1:p.(Val67Ile)	NC_000012.11:g.125302181C>T	VUS	1 lab	12e42cdace
2:21255246 APOB C>A	2	21255246	21255246	C	A	APOB	c.1332G>T	NM_000384.3	NP_000375.3:p.(Ala444=)	NC_000002.11:g.21255246C>A	(Likely) benign	1 lab	12e50c4bb3
5:138253481 CTNNA1 C>T	5	138253481	138253481	C	T	CTNNA1	c.1440C>T	NM_001903.5	NP_001894.2:p.(Ala480=)	NC_000005.9:g.138253481C>T	(Likely) benign	1 lab	12e96dead7
2:73651768 ALMS1 G>A	2	73651768	73651768	G	A	ALMS1	c.978G>A	NM_015120.4	NP_055935.4:p.(Ser326=)	NC_000002.11:g.73651768G>A	(Likely) benign	1 lab	12f2d82f34
10:11363311 CELF2 T>TGCTGCAGCAGCAGAGC	10	11363311	11363334	T	TGCTGCAGCAGCAGAGC	CELF2	c.1225_1240dup	NM_001025077.3	NP_001020248.1:p.(Gly414AlafsTer45)	NC_000010.10:g.11363319_11363334dup	VUS	1 lab	12f776797c
2:220498718 SLC4A3 G>A	2	220498718	220498718	G	A	SLC4A3	c.1642+17G>A	NM_001326559.2	NP_001313488.2:p.?	NC_000002.11:g.220498718G>A	(Likely) benign	1 lab	12f8cbe4fb
2:189858093 COL3A1 G>T	2	189858093	189858093	G	T	COL3A1	c.1057G>T	NM_000090.4	NP_000081.2:p.(Val353Phe)	NC_000002.11:g.189858093G>T	VUS	1 lab	12fb81bd0c
5:172661786 NKX2-5 CG>C	5	172661786	172661790	CG	C	NKX2-5	c.300del	NM_001166175.2	NP_001159647.1:p.(Asp101ThrfsTer64)	NC_000005.9:g.172661790del	(Likely) pathogenic	1 lab	12fd110016
16:31196396 FUS CAGT>C	16	31196396	31196399	CAGT	C	FUS	c.661_663del	NM_004960.4	NP_004951.1:p.(Ser221del)	NC_000016.9:g.31196397_31196399del	VUS	1 lab	12fd166c7c
17:45551929 MISSING Ref too long to show for this DEL>A	17	45551929	45667377	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.45551930_45667377del	VUS	1 lab	1302adf41a
6:56600010 DST C>T	6	56600010	56600010	C	T	DST	c.687+16G>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56600010C>T	(Likely) benign	1 lab	130605f82a
19:11227070 LDLR C>T	19	11227070	11227070	C	T	LDLR	c.1705+182C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227070C>T	(Likely) benign	1 lab	130bb2389f
8:100733202 VPS13B G>A	8	100733202	100733202	G	A	VPS13B	c.7052G>A	NM_017890.5	NP_060360.3:p.(Arg2351Gln)	NC_000008.10:g.100733202G>A	(Likely) benign	1 lab	13185619be
8:24813692 NEFL T>G	8	24813692	24813692	T	G	NEFL	c.338A>C	NM_006158.5	NP_006149.2:p.(Gln113Pro)	NC_000008.10:g.24813692T>G	VUS	1 lab	131fa6123f
6:33635001 ITPR3 C>T	6	33635001	33635001	C	T	ITPR3	c.1647C>T	NM_002224.4	NP_002215.2:p.(Tyr549=)	NC_000006.11:g.33635001C>T	(Likely) benign	1 lab	13207874c3
X:70443816 GJB1 C>G	X	70443816	70443816	C	G	GJB1	c.259C>G	NM_000166.6	NP_000157.1:p.(Pro87Ala)	NC_000023.10:g.70443816C>G	(Likely) pathogenic	1 lab	132631fbb5
5:90101294 ADGRV1 A>G	5	90101294	90101294	A	G	ADGRV1	c.14836+19A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90101294A>G	(Likely) benign	1 lab	13271c64f2
X:53440094 SMC1A C>T	X	53440094	53440094	C	T	SMC1A	c.550-6G>A	NM_001281463.1	NP_001268392.1:p.?	NC_000023.10:g.53440094C>T	(Likely) benign	1 lab	132e90030c
1:25890208 LDLRAP1 A>G	1	25890208	25890208	A	G	LDLRAP1	c.673A>G	NM_015627.3	NP_056442.2:p.(Thr225Ala)	NC_000001.10:g.25890208A>G	VUS	1 lab	1333b98aec
8:97157691 GDF6 T>C	8	97157691	97157691	T	C	GDF6	c.468A>G	NM_001001557.4	NP_001001557.1:p.(Ser156=)	NC_000008.10:g.97157691T>C	(Likely) benign	1 lab	1335cf5825
10:112582884 RBM20 C>T	10	112582884	112582884	C	T	RBM20	c.3317-354C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112582884C>T	(Likely) benign	1 lab	1337ba9de8
1:6535149 PLEKHG5 A>G	1	6535149	6535149	A	G	PLEKHG5	c.260T>C	NM_198681.4	NP_941374.3:p.(Ile87Thr)	NC_000001.10:g.6535149A>G	(Likely) benign	1 lab	1338d7ac8e
7:95818884 SLC25A13 C>A	7	95818884	95818884	C	A	SLC25A13	c.848+9G>T	NM_014251.3	NP_055066.1:p.?	NC_000007.13:g.95818884C>A	(Likely) benign	1 lab	133d4cd5e0
2:21255379 APOB C>T	2	21255379	21255379	C	T	APOB	c.1199G>A	NM_000384.3	NP_000375.3:p.(Arg400His)	NC_000002.11:g.21255379C>T	(Likely) benign	1 lab	1341371eb8
2:21235369 APOB T>C	2	21235369	21235369	T	C	APOB	c.4371A>G	NM_000384.3	NP_000375.3:p.(Ala1457=)	NC_000002.11:g.21235369T>C	(Likely) benign	1 lab	134ab827c0
X:130412048 IGSF1 A>C	X	130412048	130412048	A	C	IGSF1	c.2117T>G	NM_001170961.2	NP_001164432.1:p.(Leu706Arg)	NC_000023.10:g.130412048A>C	VUS	1 lab	134f5e5314
1:156844777 NTRK1 G>A	1	156844777	156844777	G	A	NTRK1	c.1331G>A	NM_002529.4	NP_002520.2:p.(Arg444Gln)	NC_000001.10:g.156844777G>A	(Likely) benign	1 lab	13513bb504
17:8192912 RANGRF G>C	17	8192912	8192912	G	C	RANGRF	c.*33G>C	NM_001177802.2	NP_001171273.1:p.?	NC_000017.10:g.8192912G>C	(Likely) benign	1 lab	1353e39514
3:156864398 CCNL1 TAAAAAA>T	3	156864398	156864416	TAAAAAA	T	CCNL1	c.1233-8_1233-3del	NM_001308185.2	NP_001295114.1:p.?	NC_000003.11:g.156864411_156864416del	(Likely) benign	1 lab	1354f3b653
1:65270670 RAVER2 G>T	1	65270670	65270670	G	T	RAVER2	c.1258-4G>T	NM_018211.4	NP_060681.2:p.?	NC_000001.10:g.65270670G>T	(Likely) benign	1 lab	1357734fdf
6:169972639 WDR27 CAAAAA>C	6	169972639	169972665	CAAAAA	C	WDR27	c.2524-8_2524-4del	NM_182552.5	NP_872358.4:p.?	NC_000006.11:g.169972661_169972665del	(Likely) benign	1 lab	13592330a1
2:179447021 TTN A>G	2	179447021	179447021	A	G	TTN	c.66160+2T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179447021A>G	VUS	1 lab	135abc4024
3:14172373 TMEM43 G>A	3	14172373	14172373	G	A	TMEM43	c.214G>A	NM_024334.3	NP_077310.1:p.(Val72Met)	NC_000003.11:g.14172373G>A	VUS	1 lab	135d604830
12:112829036 MISSING Ref too long to show for this DEL>C	12	112829036	112857760	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.112829037_112857760del	VUS	1 lab	135f261af1
1:218578685 TGFB2 T>TTTG	1	218578685	218578717	T	TTTG	TGFB2	c.594+41_594+43dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578715_218578717dup	(Likely) benign	1 lab	1361dda961
11:128672183 MISSING Ref too long to show for this DEL>C	11	128672183	134938470	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.128672184_134938470del	(Likely) pathogenic	1 lab	136299ca19
12:21355501 SLCO1B1 C>T	12	21355501	21355501	C	T	SLCO1B1	c.1212C>T	NM_006446.5	NP_006437.3:p.(Thr404=)	NC_000012.11:g.21355501C>T	(Likely) benign	1 lab	1363885819
11:17452603 ABCC8 T>G	11	17452603	17452603	T	G	ABCC8	c.1672-97A>C	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17452603T>G	(Likely) benign	1 lab	136deb334a
10:69905234 MYPN G>T	10	69905234	69905234	G	T	MYPN	c.1081G>T	NM_032578.4	NP_115967.2:p.(Val361Phe)	NC_000010.10:g.69905234G>T	VUS	1 lab	1370efe72b
3:38592304 SCN5A A>G	3	38592304	38592304	A	G	SCN5A	c.5556T>C	NM_000335.5	NP_000326.2:p.(Ile1852=)	NC_000003.11:g.38592304A>G	(Likely) benign	1 lab	1371b51417
1:11074250 TARDBP A>G	1	11074250	11074250	A	G	TARDBP	c.238+228A>G	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11074250A>G	(Likely) benign	1 lab	1371f777b3
1:156837993 NTRK1 C>T	1	156837993	156837993	C	T	NTRK1	c.526C>T	NM_002529.4	NP_002520.2:p.(Gln176Ter)	NC_000001.10:g.156837993C>T	(Likely) pathogenic	1 lab	13741b558e
20:45353469 SLC2A10 T>G	20	45353469	45353469	T	G	SLC2A10	c.5-211T>G	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45353469T>G	(Likely) benign	1 lab	1374a7421e
19:49686122 TRPM4 G>A	19	49686122	49686122	G	A	TRPM4	c.1551G>A	NM_017636.4	NP_060106.2:p.(Pro517=)	NC_000019.9:g.49686122G>A	VUS	1 lab	1377869fe4
18:77475455 CTDP1 G>A	18	77475455	77475455	G	A	CTDP1	c.1995G>A	NM_004715.5	NP_004706.3:p.(Ala665=)	NC_000018.9:g.77475455G>A	(Likely) benign	1 lab	13844a3d93
2:21233273 APOB A>G	2	21233273	21233273	A	G	APOB	c.6467T>C	NM_000384.3	NP_000375.3:p.(Ile2156Thr)	NC_000002.11:g.21233273A>G	VUS	1 lab	138659b06e
6:107076838 RTN4IP1 C>T	6	107076838	107076838	C	T	RTN4IP1	c.59G>A	NM_032730.5	NP_116119.2:p.(Trp20Ter)	NC_000006.11:g.107076838C>T	VUS	1 lab	138954b4da
11:131946847 MISSING A>Alt too long to show for this DUP	11	131946847	132313330	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.131946848_132313330dup	VUS	1 lab	13906b2080
3:63968089 ATXN7 A>G	3	63968089	63968089	A	G	ATXN7	c.980A>G	NM_000333.4	NP_000324.1:p.(Asn327Ser)	NC_000003.11:g.63968089A>G	(Likely) benign	1 lab	1390ac1827
2:108604805 SLC5A7 G>C	2	108604805	108604805	G	C	SLC5A7	c.178+16G>C	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108604805G>C	(Likely) benign	1 lab	1392bfa52c
16:12350967 SNX29 Ref too long to show for this DEL>A	16	12350967	12361560	Ref too long to show for this DEL	A	SNX29	c.1679-20822_1679-10230del	NM_032167.5	NP_115543.3:p.?	NC_000016.9:g.12350968_12361560del	VUS	1 lab	13967a3481
6:7565608 DSP G>A	6	7565608	7565608	G	A	DSP	c.794G>A	NM_004415.4	NP_004406.2:p.(Arg265Lys)	NC_000006.11:g.7565608G>A	VUS	1 lab	139a1e62d3
9:107602687 ABCA1 G>A	9	107602687	107602687	G	A	ABCA1	c.927C>T	NM_005502.4	NP_005493.2:p.(Cys309=)	NC_000009.11:g.107602687G>A	(Likely) benign	1 lab	139a8de266
X:70443838 GJB1 A>G	X	70443838	70443838	A	G	GJB1	c.281A>G	NM_000166.6	NP_000157.1:p.(His94Arg)	NC_000023.10:g.70443838A>G	(Likely) pathogenic	1 lab	139c8e2e35
3:38674519 SCN5A T>C	3	38674519	38674519	T	C	SCN5A	c.273+7A>G	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38674519T>C	(Likely) benign	1 lab	139efd8450
12:38714929 ALG10B A>G	12	38714929	38714929	A	G	ALG10B	c.1336A>G	NM_001013620.4	NP_001013642.2:p.(Ile446Val)	NC_000012.11:g.38714929A>G	(Likely) benign	1 lab	13a6d65100
1:180803992 XPR1 AT>A	1	180803992	180804002	AT	A	XPR1	c.1135-8del	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180804002del	(Likely) benign	1 lab	13a739ff68
16:81387990 GAN T>C	16	81387990	81387990	T	C	GAN	c.283-20T>C	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81387990T>C	(Likely) benign	1 lab	13a7cbbd8c
13:101020733 PCCA G>T	13	101020733	101020733	G	T	PCCA	c.1651G>T	NM_000282.4	NP_000273.2:p.(Val551Phe)	NC_000013.10:g.101020733G>T	(Likely) benign	1 lab	13aad45f06
3:14176700 TMEM43 G>A	3	14176700	14176700	G	A	TMEM43	c.748G>A	NM_024334.3	NP_077310.1:p.(Gly250Ser)	NC_000003.11:g.14176700G>A	VUS	1 lab	13b04aa1b2
14:91883082 CCDC88C A>C	14	91883082	91883082	A	C	CCDC88C	c.161T>G	NM_001080414.4	NP_001073883.2:p.(Ile54Arg)	NC_000014.8:g.91883082A>C	VUS	1 lab	13b321a6f1
9:91940581 SECISBP2 C>T	9	91940581	91940581	C	T	SECISBP2	c.218C>T	NM_001282690.1	NP_001269619.1:p.(Ala73Val)	NC_000009.11:g.91940581C>T	(Likely) benign	1 lab	13b3853a49
11:47367941 MYBPC3 C>T	11	47367941	47367941	C	T	MYBPC3	c.927-20G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367941C>T	(Likely) benign	1 lab	13bb181237
13:99555254 DOCK9 Ref too long to show for this DEL>G	13	99555254	99607723	Ref too long to show for this DEL	G	DOCK9	c.209_1147del	NM_001366683.2	NP_001353612.1:p.(Arg70_Ala383delinsPro)	NC_000013.10:g.99555255_99607723del	VUS	1 lab	13bbb03863
1:237872792 RYR2 A>G	1	237872792	237872792	A	G	RYR2	c.10155A>G	NM_001035.3	NP_001026.2:p.(Leu3385=)	NC_000001.10:g.237872792A>G	(Likely) benign	1 lab	13c24a2313
12:125271090 SCARB1 G>C	12	125271090	125271090	G	C	SCARB1	c.1255-41C>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125271090G>C	(Likely) benign	1 lab	13c3542798
17:26874375 UNC119 G>A	17	26874375	26874375	G	A	UNC119	c.663C>T	NM_005148.4	NP_005139.1:p.(Phe221=)	NC_000017.10:g.26874375G>A	(Likely) benign	1 lab	13c3b54a48
8:75272543 GDAP1 G>A	8	75272543	75272543	G	A	GDAP1	c.482G>A	NM_018972.4	NP_061845.2:p.(Arg161His)	NC_000008.10:g.75272543G>A	(Likely) pathogenic	1 lab	13c3bbc14a
5:90050829 ADGRV1 G>A	5	90050829	90050829	G	A	ADGRV1	c.11407G>A	NM_032119.4	NP_115495.3:p.(Ala3803Thr)	NC_000005.9:g.90050829G>A	VUS	1 lab	13c9dc5e6d
17:1674828 SERPINF1 G>C	17	1674828	1674828	G	C	SERPINF1	c.440-338G>C	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1674828G>C	(Likely) benign	1 lab	13ce0cb776
13:32937491 BRCA2 A>G	13	32937491	32937491	A	G	BRCA2	c.8152A>G	NM_000059.4	NP_000050.3:p.(Ile2718Val)	NC_000013.10:g.32937491A>G	(Likely) benign	1 lab	13ce549143
7:154587611 DPP6 G>A	7	154587611	154587611	G	A	DPP6	c.1125G>A	NM_001364501.2	NP_001351430.1:p.(Pro375=)	NC_000007.13:g.154587611G>A	(Likely) benign	1 lab	13ce61bd54
19:11218713 LDLR C>T	19	11218713	11218713	C	T	LDLR	c.940+523C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218713C>T	(Likely) benign	1 lab	13cfcfb408
16:88495628 ZNF469 G>A	16	88495628	88495628	G	A	ZNF469	c.1750G>A	NM_001367624.2	NP_001354553.1:p.(Val584Met)	NC_000016.9:g.88495628G>A	VUS	1 lab	13cffb1f4d
1:10381802 KIF1B T>C	1	10381802	10381802	T	C	KIF1B	c.2107T>C	NM_015074.3	NP_055889.2:p.(Trp703Arg)	NC_000001.10:g.10381802T>C	(Likely) benign	1 lab	13d00ce21a
11:61725743 BEST1 GTTC>G	11	61725743	61725753	GTTC	G	BEST1	c.668_670del	NM_001139443.2	NP_001132915.1:p.(Phe223del)	NC_000011.9:g.61725751_61725753del	(Likely) pathogenic	1 lab	13d3d2c573
9:116152886 ALAD C>T	9	116152886	116152886	C	T	ALAD	c.468G>A	NM_000031.6	NP_000022.3:p.(Ala156=)	NC_000009.11:g.116152886C>T	(Likely) benign	1 lab	13d78e7bae
15:35082682 ACTC1 C>CG	15	35082682	35082683	C	CG	ACTC1	c.1064_1065insC	NM_005159.5	NP_005150.1:p.(Gln355HisfsTer6)	NC_000015.9:g.35082682_35082683insG	VUS	1 lab	13d7d30006
5:82835059 VCAN G>A	5	82835059	82835059	G	A	VCAN	c.6237G>A	NM_004385.5	NP_004376.2:p.(Lys2079=)	NC_000005.9:g.82835059G>A	(Likely) benign	1 lab	13db0233e7
8:97157289 GDF6 G>A	8	97157289	97157289	G	A	GDF6	c.870C>T	NM_001001557.4	NP_001001557.1:p.(Phe290=)	NC_000008.10:g.97157289G>A	(Likely) benign	1 lab	13e3bfa57c
10:24909439 ARHGAP21 C>G	10	24909439	24909439	C	G	ARHGAP21	c.1385G>C	NM_020824.4	NP_065875.3:p.(Arg462Thr)	NC_000010.10:g.24909439C>G	VUS	1 lab	13e7b4e6fa
19:55317616 KIR2DL4 A>G	19	55317616	55317616	A	G	KIR2DL4	c.572A>G	NM_001080772.2	NP_001074241.1:p.(Glu191Gly)	NC_000019.9:g.55317616A>G	(Likely) benign	1 lab	13e95eae40
6:32021355 TNXB G>A	6	32021355	32021355	G	A	TNXB	c.8595C>T	NM_019105.8	NP_061978.6:p.(Pro2865=)	NC_000006.11:g.32021355G>A	(Likely) benign	1 lab	13eff954b0
2:189863212 COL3A1 A>G	2	189863212	189863212	A	G	COL3A1	c.1977+167A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863212A>G	(Likely) benign	1 lab	13f0add31f
16:976169 LMF1 C>T	16	976169	976169	C	T	LMF1	c.514+8075G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.976169C>T	(Likely) benign	1 lab	13f9aad53b
8:59404147 CYP7A1 C>G	8	59404147	59404147	C	G	CYP7A1	c.1402G>C	NM_000780.4	NP_000771.2:p.(Glu468Gln)	NC_000008.10:g.59404147C>G	VUS	1 lab	13fa7b1711
2:179644153 TTN T>C	2	179644153	179644153	T	C	TTN	c.3766A>G	NM_001267550.2	NP_001254479.2:p.(Lys1256Glu)	NC_000002.11:g.179644153T>C	VUS	1 lab	13fb52f271
15:40313083 EIF2AK4 G>T	15	40313083	40313083	G	T	EIF2AK4	c.4174-17G>T	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40313083G>T	(Likely) benign	1 lab	13fb83527e
X:103041533 PLP1 A>C	X	103041533	103041533	A	C	PLP1	c.331A>C	NM_001128834.3	NP_001122306.1:p.(Lys111Gln)	NC_000023.10:g.103041533A>C	(Likely) pathogenic	1 lab	13ffa8bae4
5:89913778 ADGRV1 C>T	5	89913778	89913778	C	T	ADGRV1	c.357+8C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89913778C>T	(Likely) benign	1 lab	1405f4585f
3:58081888 FLNB T>C	3	58081888	58081888	T	C	FLNB	c.927T>C	NM_001164317.2	NP_001157789.1:p.(Ser309=)	NC_000003.11:g.58081888T>C	(Likely) benign	1 lab	14068f0aea
1:156084862 LMNA G>T	1	156084862	156084862	G	T	LMNA	c.153G>T	NM_170707.4	NP_733821.1:p.(Ser51=)	NC_000001.10:g.156084862G>T	(Likely) benign	1 lab	14072d5140
6:73100295 RIMS1 G>C	6	73100295	73100295	G	C	RIMS1	c.4367-5G>C	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.73100295G>C	(Likely) benign	1 lab	1408d5d8b4
8:144297029 GPIHBP1 G>A	8	144297029	144297029	G	A	GPIHBP1	c.295+28G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297029G>A	(Likely) benign	1 lab	141285caaa
9:21816728 MTAP A>C	9	21816728	21816728	A	C	MTAP	c.136A>C	NM_002451.4	NP_002442.2:p.(Ile46Leu)	NC_000009.11:g.21816728A>C	(Likely) benign	1 lab	1426b13b1c
1:45966005 MMACHC A>G	1	45966005	45966005	A	G	MMACHC				NC_000001.10:g.45966005A>G	(Likely) pathogenic	1 lab	da2d69aac5
2:21256381 APOB T>C	2	21256381	21256381	T	C	APOB	c.914A>G	NM_000384.3	NP_000375.3:p.(Lys305Arg)	NC_000002.11:g.21256381T>C	(Likely) benign	1 lab	1432c0a90f
10:71678049 COL13A1 C>A	10	71678049	71678049	C	A	COL13A1	c.1005C>A	NM_001130103.2	NP_001123575.1:p.(Pro335=)	NC_000010.10:g.71678049C>A	(Likely) benign	1 lab	143610cf7f
17:79620335 PDE6G T>C	17	79620335	79620335	T	C	PDE6G				NC_000017.10:g.79620335T>C	VUS	1 lab	143c9f222a
2:179427641 TTN C>T	2	179427641	179427641	C	T	TTN	c.83218G>A	NM_001267550.2	NP_001254479.2:p.(Asp27740Asn)	NC_000002.11:g.179427641C>T	VUS	1 lab	143f4392d6
18:77477822 CTDP1 T>C	18	77477822	77477822	T	C	CTDP1	c.2223T>C	NM_004715.5	NP_004706.3:p.(Pro741=)	NC_000018.9:g.77477822T>C	(Likely) benign	1 lab	1446482798
2:179416711 TTN CG>C	2	179416711	179416712	CG	C	TTN	c.90915del	NM_001267550.2	NP_001254479.2:p.(Tyr30305Ter)	NC_000002.11:g.179416712del	(Likely) pathogenic	1 lab	14475fcef5
12:57962799 KIF5A C>A	12	57962799	57962799	C	A	KIF5A	c.768C>A	NM_004984.4	NP_004975.2:p.(Asn256Lys)	NC_000012.11:g.57962799C>A	VUS	1 lab	144965ee79
X:30681361 GK T>Alt too long to show for this DUP	X	30681361	30685917	T	Alt too long to show for this DUP	GK	c.79-2265_153-212dup	NM_001205019.2	NP_001191948.1:p.?	NC_000023.10:g.30681363_30685917dup	VUS	1 lab	144a578401
16:904646 LMF1 G>A	16	904646	904646	G	A	LMF1	c.1590C>T	NM_022773.4	NP_073610.2:p.(Ala530=)	NC_000016.9:g.904646G>A	(Likely) benign	1 lab	144b0357cf
3:123456262 MYLK C>T	3	123456262	123456262	C	T	MYLK	c.717G>A	NM_053025.4	NP_444253.3:p.(Ser239=)	NC_000003.11:g.123456262C>T	(Likely) benign	1 lab	144b673b62
1:225974589 SRP9 G>T	1	225974589	225974589	G	T	SRP9	c.167G>T	NM_001130440.2	NP_001123912.1:p.(Arg56Met)	NC_000001.10:g.225974589G>T	(Likely) benign	1 lab	144bfd69ab
8:30945364 WRN G>C	8	30945364	30945364	G	C	WRN	c.1504G>C	NM_000553.6	NP_000544.2:p.(Gly502Arg)	NC_000008.10:g.30945364G>C	(Likely) benign	1 lab	144dfa7a59
9:107620872 ABCA1 T>C	9	107620872	107620872	T	C	ABCA1	c.651A>G	NM_005502.4	NP_005493.2:p.(Leu217=)	NC_000009.11:g.107620872T>C	(Likely) benign	1 lab	144dfc1a10
9:101589085 GALNT12 G>T	9	101589085	101589085	G	T	GALNT12	c.593G>T	NM_024642.5	NP_078918.3:p.(Arg198Leu)	NC_000009.11:g.101589085G>T	VUS	1 lab	144e16427b
14:102508360 DYNC1H1 A>G	14	102508360	102508360	A	G	DYNC1H1	c.12113A>G	NM_001376.5	NP_001367.2:p.(Asn4038Ser)	NC_000014.8:g.102508360A>G	VUS	1 lab	144ea0f8be
1:866476 SAMD11 G>A	1	866476	866476	G	A	SAMD11	c.305+7G>A	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.866476G>A	(Likely) benign	1 lab	14501c8f51
12:21370130 SLCO1B1 A>C	12	21370130	21370130	A	C	SLCO1B1	c.1575A>C	NM_006446.5	NP_006437.3:p.(Pro525=)	NC_000012.11:g.21370130A>C	(Likely) benign	1 lab	1453daa89a
16:11643576 LITAF G>A	16	11643576	11643576	G	A	LITAF	c.403C>T	NM_004862.4	NP_004853.2:p.(Pro135Ser)	NC_000016.9:g.11643576G>A	(Likely) pathogenic	1 lab	145485413a
11:47361542 MYBPC3 C>T	11	47361542	47361542	C	T	MYBPC3	c.1928-201G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361542C>T	(Likely) benign	1 lab	1454ea2442
8:108315599 ANGPT1 CA>C	8	108315599	108315614	CA	C	ANGPT1	c.809-5del	NM_001146.5	NP_001137.2:p.?	NC_000008.10:g.108315614del	(Likely) benign	1 lab	14569a236c
13:114435838 GRK1 G>T	13	114435838	114435838	G	T	GRK1	c.1195-19G>T	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114435838G>T	(Likely) benign	1 lab	145854fb65
2:21238024 APOB A>G	2	21238024	21238024	A	G	APOB	c.3617T>C	NM_000384.3	NP_000375.3:p.(Met1206Thr)	NC_000002.11:g.21238024A>G	VUS	1 lab	1458e4e0a5
2:73680751 ALMS1 CAG>C	2	73680751	73680757	CAG	C	ALMS1	c.7105_7106del	NM_015120.4	NP_055935.4:p.(Ser2369GlnfsTer11)	NC_000002.11:g.73680756_73680757del	(Likely) pathogenic	1 lab	145b2d4744
8:38876354 ADAM9 T>C	8	38876354	38876354	T	C	ADAM9	c.607-18T>C	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38876354T>C	(Likely) benign	1 lab	145f8597d4
1:243456708 SDCCAG8 T>C	1	243456708	243456708	T	C	SDCCAG8	c.675+187T>C	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243456708T>C	(Likely) benign	1 lab	1460902bf8
5:57739017 MISSING Ref too long to show for this DEL>G	5	57739017	57765462	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.57739018_57765462del	VUS	1 lab	146340d8e5
19:11216263 LDLR C>T	19	11216263	11216263	C	T	LDLR	c.681C>T	NM_000527.5	NP_000518.1:p.(Asp227=)	NC_000019.9:g.11216263C>T	(Likely) benign	1 lab	1465acb221
1:55512225 PCSK9 C>T	1	55512225	55512225	C	T	PCSK9	c.429C>T	NM_174936.4	NP_777596.2:p.(Ile143=)	NC_000001.10:g.55512225C>T	(Likely) benign	1 lab	1467d8fa6e
10:90707094 ACTA2 G>T	10	90707094	90707094	G	T	ACTA2	c.179C>A	NM_001141945.2	NP_001135417.1:p.(Ala60Glu)	NC_000010.10:g.90707094G>T	(Likely) pathogenic	1 lab	14690a9766
9:107594883 ABCA1 G>T	9	107594883	107594883	G	T	ABCA1	c.1481C>A	NM_005502.4	NP_005493.2:p.(Ala494Glu)	NC_000009.11:g.107594883G>T	VUS	1 lab	146bfe857c
X:70444056 GJB1 A>G	X	70444056	70444056	A	G	GJB1	c.499A>G	NM_000166.6	NP_000157.1:p.(Lys167Glu)	NC_000023.10:g.70444056A>G	(Likely) pathogenic	1 lab	146c4693f1
3:148876534 HPS3 G>A	3	148876534	148876534	G	A	HPS3	c.1773G>A	NM_032383.5	NP_115759.2:p.(Thr591=)	NC_000003.11:g.148876534G>A	VUS	1 lab	146dcbd1f7
18:47113008 LIPG C>T	18	47113008	47113008	C	T	LIPG	c.1377-108C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47113008C>T	(Likely) benign	1 lab	1477be2a15
11:47370459 MYBPC3 TTATATATA>T	11	47370459	47370478	TTATATATA	T	MYBPC3	c.655-375_655-368del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370471_47370478del	(Likely) benign	1 lab	147e4e132f
3:178904575 MISSING Ref too long to show for this DEL>T	3	178904575	178983225	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.178904579_178983225del	VUS	1 lab	148eab73c8
10:27529313 ACBD5 G>A	10	27529313	27529313	G	A	ACBD5	c.11C>T	NM_001352579.2	NP_001339508.1:p.(Thr4Met)	NC_000010.10:g.27529313G>A	(Likely) benign	1 lab	149e200c35
3:45488355 LARS2 G>Alt too long to show for this DUP	3	45488355	45589594	G	Alt too long to show for this DUP	LARS2	c.517-26_*572dup	NM_015340.4	NP_056155.1:p.?	NC_000003.11:g.45488357_45589594dup	VUS	1 lab	149f746f92
1:116947084 ATP1A1 C>T	1	116947084	116947084	C	T	ATP1A1	c.*18C>T	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116947084C>T	(Likely) benign	1 lab	14a01d5fed
16:1001930 LMF1 A>T	16	1001930	1001930	A	T	LMF1	c.-52+2427T>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1001930A>T	(Likely) benign	1 lab	14a36635da
18:34205696 FHOD3 C>G	18	34205696	34205696	C	G	FHOD3	c.1180C>G	NM_001281740.3	NP_001268669.1:p.(Arg394Gly)	NC_000018.9:g.34205696C>G	VUS	1 lab	14a5de93d2
11:2683305 KCNQ1 T>C	11	2683305	2683305	T	C	KCNQ1	c.1508T>C	NM_000218.3	NP_000209.2:p.(Ile503Thr)	NC_000011.9:g.2683305T>C	VUS	1 lab	14bb3990a4
X:148497478 MISSING T>Alt too long to show for this DUP	X	148497478	148623568	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.148497479_148623568dup	VUS	1 lab	14c56e14a0
10:24955886 MISSING G>Alt too long to show for this DUP	10	24955886	25025985	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.24955890_25025985dup	VUS	1 lab	14c89dbd21
3:132218075 DNAJC13 C>T	3	132218075	132218075	C	T	DNAJC13	c.4262C>T	NM_015268.4	NP_056083.3:p.(Ala1421Val)	NC_000003.11:g.132218075C>T	(Likely) benign	1 lab	14c9d7c0ad
2:69093288 BMP10 G>T	2	69093288	69093288	G	T	BMP10	c.750C>A	NM_014482.3	NP_055297.1:p.(Asn250Lys)	NC_000002.11:g.69093288G>T	(Likely) benign	1 lab	14cf32c9ac
7:30671922 GARS1 G>A	7	30671922	30671922	G	A	GARS1	c.1963G>A	NM_002047.4	NP_002038.2:p.(Gly655Arg)	NC_000007.13:g.30671922G>A	VUS	1 lab	14cf7b8997
1:63063624 ANGPTL3 A>T	1	63063624	63063624	A	T	ANGPTL3	c.387A>T	NM_014495.4	NP_055310.1:p.(Glu129Asp)	NC_000001.10:g.63063624A>T	VUS	1 lab	14d516922b
1:150297334 PRPF3 CTTT>C	1	150297334	150297350	CTTT	C	PRPF3	c.-48-5_-48-3del	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297348_150297350del	(Likely) benign	1 lab	14da230349
2:162280619 TBR1 G>C	2	162280619	162280619	G	C	TBR1	c.1930G>C	NM_006593.4	NP_006584.1:p.(Asp644His)	NC_000002.11:g.162280619G>C	VUS	1 lab	14f288a7c7
19:50747495 MYH14 C>T	19	50747495	50747495	C	T	MYH14	c.1091-4C>T	NM_024729.4	NP_079005.3:p.?	NC_000019.9:g.50747495C>T	(Likely) benign	1 lab	14f3c14481
11:71942028 INPPL1 C>T	11	71942028	71942028	C	T	INPPL1	c.1301-9C>T	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71942028C>T	(Likely) benign	1 lab	14fb6a4685
12:50503252 GPD1 C>A	12	50503252	50503252	C	A	GPD1	c.1000C>A	NM_005276.4	NP_005267.2:p.(Pro334Thr)	NC_000012.11:g.50503252C>A	VUS	1 lab	14fd0366d3
2:179604131 TTN G>A	2	179604131	179604131	G	A	TTN	c.13829C>T	NM_001267550.2	NP_001254479.2:p.(Thr4610Ile)	NC_000002.11:g.179604131G>A	VUS	1 lab	1503219cb6
6:88255328 MISSING Ref too long to show for this DEL>A	6	88255328	88333016	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.88255329_88333016del	VUS	1 lab	15044a4222
2:241725739 KIF1A T>A	2	241725739	241725739	T	A	KIF1A	c.608+13A>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241725739T>A	(Likely) benign	1 lab	1506ff4bf0
19:45412376 APOE T>G	19	45412376	45412376	T	G	APOE	c.901T>G	NM_001302688.2	NP_001289617.1:p.(Phe301Val)	NC_000019.9:g.45412376T>G	VUS	1 lab	151cb07e1b
4:100522453 MTTP T>TA	4	100522453	100522457	T	TA	MTTP	c.1237-307dup	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522457dup	(Likely) benign	1 lab	152094506b
6:32053892 TNXB G>T	6	32053892	32053892	G	T	TNXB	c.2783C>A	NM_019105.8	NP_061978.6:p.(Ser928Tyr)	NC_000006.11:g.32053892G>T	VUS	1 lab	15210897e4
14:23902305 MYH7 GGA>G	14	23902305	23902308	GGA	G	MYH7	c.331_332del	NM_000257.4	NP_000248.2:p.(Ser111LeufsTer26)	NC_000014.8:g.23902307_23902308del	VUS	1 lab	15224f2a5d
17:44060492 MAPT G>A	17	44060492	44060492	G	A	MAPT	c.547G>A	NM_001377265.1	NP_001364194.1:p.(Glu183Lys)	NC_000017.10:g.44060492G>A	(Likely) benign	1 lab	152337e143
11:114398627 NXPE1 CA>C	11	114398627	114398637	CA	C	NXPE1	c.408-5del	NM_152315.5	NP_689528.2:p.?	NC_000011.9:g.114398637del	(Likely) benign	1 lab	152484f538
19:1221323 STK11 C>G	19	1221323	1221323	C	G	STK11	c.846C>G	NM_000455.5	NP_000446.1:p.(Leu282=)	NC_000019.9:g.1221323C>G	(Likely) benign	1 lab	1526cd8292
16:57484980 COQ9 G>A	16	57484980	57484980	G	A	COQ9	c.102G>A	NM_020312.4	NP_064708.1:p.(Pro34=)	NC_000016.9:g.57484980G>A	(Likely) benign	1 lab	1581e0ba38
16:15814824 MYH11 G>A	16	15814824	15814824	G	A	MYH11	c.4684C>T	NM_001040113.2	NP_001035202.1:p.(Leu1562=)	NC_000016.9:g.15814824G>A	(Likely) benign	1 lab	15300133c5
7:44153357 AEBP1 G>A	7	44153357	44153357	G	A	AEBP1				NC_000007.13:g.44153357G>A	VUS	1 lab	dbfbce3cdb
19:10939832 DNM2 C>T	19	10939832	10939832	C	T	DNM2	c.2179C>T	NM_001005360.3	NP_001005360.1:p.(His727Tyr)	NC_000019.9:g.10939832C>T	VUS	1 lab	1531b91e23
3:98312184 CPOX G>A	3	98312184	98312184	G	A	CPOX	c.165C>T	NM_000097.7	NP_000088.3:p.(Gly55=)	NC_000003.11:g.98312184G>A	(Likely) benign	1 lab	1534f42731
1:110527452 AHCYL1 G>GC	1	110527452	110527453	G	GC	AHCYL1	c.-735_-734insC	NM_001242673.2	NP_001229602.1:p.?	NC_000001.10:g.110527452_110527453insC	(Likely) benign	1 lab	15351a8826
17:1240692 MISSING Ref too long to show for this DEL>C	17	1240692	1242973	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.1240693_1242973del	VUS	1 lab	153580ce3f
8:43046648 HGSNAT C>T	8	43046648	43046648	C	T	HGSNAT	c.1160C>T	NM_152419.3	NP_689632.2:p.(Thr387Met)	NC_000008.10:g.43046648C>T	(Likely) benign	1 lab	1536048675
1:237870446 RYR2 C>T	1	237870446	237870446	C	T	RYR2	c.9778C>T	NM_001035.3	NP_001026.2:p.(Arg3260Trp)	NC_000001.10:g.237870446C>T	VUS	1 lab	153d9acc21
14:21769282 RPGRIP1 G>C	14	21769282	21769282	G	C	RPGRIP1	c.376G>C	NM_020366.4	NP_065099.3:p.(Gly126Arg)	NC_000014.8:g.21769282G>C	(Likely) benign	1 lab	153e718e68
20:675240 MISSING A>Alt too long to show for this DUP	20	675240	874280	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.675241_874280dup	VUS	1 lab	15464db2f3
7:111507809 DOCK4 Ref too long to show for this DEL>C	7	111507809	111668721	Ref too long to show for this DEL	C	DOCK4	c.38-24535_2280+230del	NM_001363540.2	NP_001350469.1:p.?	NC_000007.13:g.111507810_111668721del	VUS	1 lab	1546efcd8f
9:128040434 MISSING A>Alt too long to show for this DUP	9	128040434	128179998	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.128040435_128179998dup	VUS	1 lab	154e4beee0
11:10327547 ADM C>G	11	10327547	10327547	C	G	ADM	c.150C>G	NM_001124.3	NP_001115.1:p.(Ser50Arg)	NC_000011.9:g.10327547C>G	(Likely) benign	1 lab	15c2f76d55
4:114277717 ANK2 G>A	4	114277717	114277717	G	A	ANK2	c.7943G>A	NM_001148.6	NP_001139.3:p.(Gly2648Asp)	NC_000004.11:g.114277717G>A	(Likely) benign	1 lab	155688fbd0
1:66096105 LEPR AG>A	1	66096105	66096106	AG	A	LEPR	c.*18del	NM_001198687.2	NP_001185616.1:p.?	NC_000001.10:g.66096106del	(Likely) benign	1 lab	1557f87c7a
9:35075738 FANCG G>A	9	35075738	35075738	G	A	FANCG	c.1157C>T	NM_004629.2	NP_004620.1:p.(Pro386Leu)	NC_000009.11:g.35075738G>A	(Likely) benign	1 lab	155a78453b
1:63069899 ANGPTL3 T>C	1	63069899	63069899	T	C	ANGPTL3	c.1191T>C	NM_014495.4	NP_055310.1:p.(Gly397=)	NC_000001.10:g.63069899T>C	(Likely) benign	1 lab	155fcd924c
16:88502259 ZNF469 C>T	16	88502259	88502259	C	T	ZNF469	c.8381C>T	NM_001367624.2	NP_001354553.1:p.(Thr2794Met)	NC_000016.9:g.88502259C>T	(Likely) benign	1 lab	1561e070b5
1:3319575 PRDM16 C>G	1	3319575	3319575	C	G	PRDM16	c.884+13C>G	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3319575C>G	(Likely) benign	1 lab	1564504847
3:121515946 IQCB1 T>C	3	121515946	121515946	T	C	IQCB1	c.876+19A>G	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121515946T>C	(Likely) benign	1 lab	1567d0bee7
16:57009080 CETP C>T	16	57009080	57009080	C	T	CETP	c.981+17C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57009080C>T	(Likely) benign	1 lab	156a0725d0
2:203379597 BMPR2 T>C	2	203379597	203379597	T	C	BMPR2	c.530-14T>C	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203379597T>C	(Likely) benign	1 lab	156fa2e118
10:75849876 VCL T>C	10	75849876	75849876	T	C	VCL	c.1272T>C	NM_003373.4	NP_003364.1:p.(Asp424=)	NC_000010.10:g.75849876T>C	(Likely) benign	1 lab	15767908ea
2:179315757 PRKRA T>G	2	179315757	179315757	T	G	PRKRA				NC_000002.11:g.179315757T>G	(Likely) benign	1 lab	15779d5c86
17:42427893 GRN G>A	17	42427893	42427893	G	A	GRN	c.546G>A	NM_002087.4	NP_002078.1:p.(Thr182=)	NC_000017.10:g.42427893G>A	(Likely) benign	1 lab	157c6aaedd
12:5153883 KCNA5 C>T	12	5153883	5153883	C	T	KCNA5	c.570C>T	NM_002234.4	NP_002225.2:p.(Asn190=)	NC_000012.11:g.5153883C>T	(Likely) benign	1 lab	157f091891
1:24175174 FUCA1 C>T	1	24175174	24175174	C	T	FUCA1	c.1125G>A	NM_000147.5	NP_000138.2:p.(Trp375Ter)	NC_000001.10:g.24175174C>T	(Likely) pathogenic	1 lab	157fd280d4
1:236925801 ACTN2 C>T	1	236925801	236925801	C	T	ACTN2	c.1943C>T	NM_001278344.2	NP_001265273.1:p.(Pro648Leu)	NC_000001.10:g.236925801C>T	VUS	1 lab	1581f19289
2:179636212 TTN G>A	2	179636212	179636212	G	A	TTN	c.7856-14C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179636212G>A	(Likely) benign	1 lab	1583e3d8bd
5:58882210 PDE4D ATCTTCTG>A	5	58882210	58882219	ATCTTCTG	A	PDE4D	c.-302_-296del	NM_001364604.1	NP_001351533.1:p.?	NC_000005.9:g.58882213_58882219del	(Likely) benign	1 lab	1585f545d4
12:125298969 SCARB1 A>G	12	125298969	125298969	A	G	SCARB1	c.427-18T>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125298969A>G	(Likely) benign	1 lab	15865865b1
16:11643440 LITAF G>C	16	11643440	11643440	G	C	LITAF	n.673C>G	NR_024320.2		NC_000016.9:g.11643440G>C	(Likely) benign	1 lab	1588c91efa
2:179588627 TTN T>C	2	179588627	179588627	T	C	TTN	c.17627A>G	NM_133378.4	NP_596869.4:p.(Asn5876Ser)	NC_000002.11:g.179588627T>C	VUS	1 lab	158a17b06e
4:100530547 MTTP A>G	4	100530547	100530547	A	G	MTTP	c.1769+413A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530547A>G	(Likely) benign	1 lab	158eb6b5ae
17:20769995 CCDC144NL C>T	17	20769995	20769995	C	T	CCDC144NL	n.580G>A	NR_164128.1		NC_000017.10:g.20769995C>T	(Likely) benign	1 lab	158f3e4612
2:234969137 SPP2 C>CT	2	234969137	234969139	C	CT	SPP2	c.444+16dup	NM_006944.3	NP_008875.1:p.?	NC_000002.11:g.234969139dup	(Likely) benign	1 lab	15964ed443
17:9993636 MISSING G>Alt too long to show for this DUP	17	9993636	10402596	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.9993638_10402596dup	VUS	1 lab	1596ced1cf
10:55581882 PCDH15 CGTT>C	10	55581882	55581889	CGTT	C	PCDH15	c.5622_5624del	NM_001142763.2	NP_001136235.1:p.(Thr1876del)	NC_000010.10:g.55581887_55581889del	(Likely) benign	1 lab	159aac677d
15:73616432 HCN4 A>AT	15	73616432	73616433	A	AT	HCN4	c.2140dup	NM_005477.3	NP_005468.1:p.(Ile714AsnfsTer27)	NC_000015.9:g.73616433dup	VUS	1 lab	159c80c40e
9:137688921 COL5A1 C>T	9	137688921	137688921	C	T	COL5A1	c.2898+174C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688921C>T	(Likely) benign	1 lab	159db50bbb
9:135787012 TSC1 TAAA>T	9	135787012	135787043	TAAA	T	TSC1	c.914-60_914-58del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135787041_135787043del	(Likely) benign	1 lab	15a0b78a14
3:14176748 TMEM43 A>G	3	14176748	14176748	A	G	TMEM43	c.780+16A>G	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14176748A>G	(Likely) benign	1 lab	15a2510008
2:39285836 SOS1 T>C	2	39285836	39285836	T	C	SOS1	c.323A>G	NM_005633.4	NP_005624.2:p.(Glu108Gly)	NC_000002.11:g.39285836T>C	(Likely) pathogenic	1 lab	15a2eeebed
15:23890185 MAGEL2 G>C	15	23890185	23890185	G	C	MAGEL2	c.2705C>G	NM_019066.5	NP_061939.3:p.(Thr902Arg)	NC_000015.9:g.23890185G>C	(Likely) benign	1 lab	15a6490168
6:76728584 IMPG1 A>T	6	76728584	76728584	A	T	IMPG1	c.667-9T>A	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76728584A>T	(Likely) benign	1 lab	15a9050e93
2:56145479 EFEMP1 G>C	2	56145479	56145479	G	C	EFEMP1	c.82-77C>G	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56145479G>C	(Likely) benign	1 lab	15b90b0937
15:26806287 GABRB3 G>A	15	26806287	26806287	G	A	GABRB3	c.617C>T	NM_001278631.2	NP_001265560.1:p.(Thr206Ile)	NC_000015.9:g.26806287G>A	(Likely) pathogenic	1 lab	15b962b378
2:152521883 NEB C>T	2	152521883	152521883	C	T	NEB	c.5202G>A	NM_001271208.2	NP_001258137.2:p.(Gln1734=)	NC_000002.11:g.152521883C>T	(Likely) benign	1 lab	15bfe21056
12:112036929 ATXN2 G>A	12	112036929	112036929	G	A	ATXN2	c.-91C>T	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.112036929G>A	(Likely) benign	1 lab	15c10025a0
11:76903081 MYO7A C>T	11	76903081	76903081	C	T	MYO7A	c.3925-15C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76903081C>T	(Likely) benign	1 lab	15c1c6dd1a
17:6360970 PITPNM3 C>G	17	6360970	6360970	C	G	PITPNM3	c.2563G>C	NM_031220.4	NP_112497.2:p.(Ala855Pro)	NC_000017.10:g.6360970C>G	(Likely) benign	1 lab	15c21112fd
1:206858646 MAPKAPK2 C>A	1	206858646	206858646	C	A	MAPKAPK2	c.72C>A	NM_004759.5	NP_004750.1:p.(Pro24=)	NC_000001.10:g.206858646C>A	(Likely) benign	1 lab	15c35ad906
2:179438678 TTN T>C	2	179438678	179438678	T	C	TTN	c.72181A>G	NM_001267550.2	NP_001254479.2:p.(Met24061Val)	NC_000002.11:g.179438678T>C	(Likely) benign	1 lab	15c574bd5f
19:11224284 LDLR G>A	19	11224284	11224284	G	A	LDLR	c.1432G>A	NM_000527.5	NP_000518.1:p.(Gly478Arg)	NC_000019.9:g.11224284G>A	(Likely) pathogenic	1 lab	15cd168275
10:88439896 LDB3 G>A	10	88439896	88439896	G	A	LDB3	c.303G>A	NM_001171610.2	NP_001165081.1:p.(Pro101=)	NC_000010.10:g.88439896G>A	(Likely) benign	1 lab	15cd852154
X:41333305 NYX G>A	X	41333305	41333305	G	A	NYX	c.599G>A	NM_022567.2	NP_072089.1:p.(Ser200Asn)	NC_000023.10:g.41333305G>A	VUS	1 lab	15d0ae4658
6:33894110 MISSING C>Alt too long to show for this DUP	6	33894110	34057559	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.33894111_34057559dup	VUS	1 lab	15d4faaf11
1:55529159 PCSK9 G>A	1	55529159	55529159	G	A	PCSK9	c.1981G>A	NM_174936.4	NP_777596.2:p.(Val661Ile)	NC_000001.10:g.55529159G>A	VUS	1 lab	15d70bafc1
20:32031261 SNTA1 G>A	20	32031261	32031261	G	A	SNTA1	c.166C>T	NM_003098.3	NP_003089.1:p.(Pro56Ser)	NC_000020.10:g.32031261G>A	(Likely) benign	1 lab	15d836cd4c
1:55521906 PCSK9 A>G	1	55521906	55521906	A	G	PCSK9	c.996+44A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521906A>G	(Likely) benign	1 lab	15d98aa5cf
10:18439784 CACNB2 C>CTTTTTTTTTTTTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTTTTTTTTTTTTT	CACNB2	c.37-23_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439789_18439809dup	(Likely) benign	1 lab	15dbe51cf3
8:59409497 CYP7A1 G>T	8	59409497	59409497	G	T	CYP7A1	c.574C>A	NM_000780.4	NP_000771.2:p.(Leu192Ile)	NC_000008.10:g.59409497G>T	VUS	1 lab	15e207c260
12:40671989 LRRK2 A>G	12	40671989	40671989	A	G	LRRK2	c.2167A>G	NM_198578.4	NP_940980.4:p.(Ile723Val)	NC_000012.11:g.40671989A>G	(Likely) benign	1 lab	15e61c99f1
2:179574597 TTN C>T	2	179574597	179574597	C	T	TTN	c.28463-14G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179574597C>T	(Likely) benign	1 lab	15e69c6cb4
19:45452264 APOC2 C>T	19	45452264	45452264	C	T	APOC2	c.215+147C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452264C>T	(Likely) benign	1 lab	15ea56c0cc
8:19796624 LPL G>A	8	19796624	19796624	G	A	LPL				NC_000008.10:g.19796624G>A	VUS	1 lab	15f5d15f05
15:72103958 NR2E3 G>A	15	72103958	72103958	G	A	NR2E3	c.245+9G>A	NM_016346.4	NP_057430.1:p.?	NC_000015.9:g.72103958G>A	(Likely) benign	1 lab	15f8c3a1b5
10:90984977 LIPA C>A	10	90984977	90984977	C	A	LIPA	c.547G>T	NM_001127605.3	NP_001121077.1:p.(Ala183Ser)	NC_000010.10:g.90984977C>A	VUS	1 lab	16020254dc
2:44080005 ABCG8 A>G	2	44080005	44080005	A	G	ABCG8	c.962A>G	NM_022437.3	NP_071882.1:p.(Tyr321Cys)	NC_000002.11:g.44080005A>G	VUS	1 lab	160239add1
12:57440416 MYO1A C>T	12	57440416	57440416	C	T	MYO1A	c.560G>A	NM_001256041.2	NP_001242970.1:p.(Arg187Gln)	NC_000012.11:g.57440416C>T	VUS	1 lab	1602e645d7
9:130587161 ENG G>A	9	130587161	130587161	G	A	ENG	c.909C>T	NM_000118.3	NP_000109.1:p.(Ala303=)	NC_000009.11:g.130587161G>A	(Likely) benign	1 lab	160638681c
16:81399037 GAN G>A	16	81399037	81399037	G	A	GAN	c.1456G>A	NM_022041.4	NP_071324.1:p.(Glu486Lys)	NC_000016.9:g.81399037G>A	(Likely) pathogenic	1 lab	160851a0f1
6:110935837 CDK19 G>A	6	110935837	110935837	G	A	CDK19	c.1410C>T	NM_015076.5	NP_055891.1:p.(Ser470=)	NC_000006.11:g.110935837G>A	(Likely) benign	1 lab	160a57eccd
2:21235467 APOB A>T	2	21235467	21235467	A	T	APOB	c.4273T>A	NM_000384.3	NP_000375.3:p.(Ser1425Thr)	NC_000002.11:g.21235467A>T	VUS	1 lab	160e9938f5
7:30671921 GARS1 C>T	7	30671921	30671921	C	T	GARS1	c.1962C>T	NM_002047.4	NP_002038.2:p.(Ile654=)	NC_000007.13:g.30671921C>T	(Likely) benign	1 lab	161212d7d4
1:213062611 FLVCR1 C>T	1	213062611	213062611	C	T	FLVCR1	c.1525+12C>T	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213062611C>T	(Likely) benign	1 lab	16124bca16
16:89515382 ANKRD11 Ref too long to show for this DEL>C	16	89515382	89560634	Ref too long to show for this DEL	C	ANKRD11				NC_000016.9:g.89515383_89560634del	VUS	1 lab	161469d139
3:145806362 PLOD2 CA>C	3	145806362	145806365	CA	C	PLOD2	c.1005+10del	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145806365del	(Likely) benign	1 lab	1614fd674f
17:2228112 TSR1 G>A	17	2228112	2228112	G	A	TSR1	c.2032C>T	NM_018128.5	NP_060598.3:p.(Leu678Phe)	NC_000017.10:g.2228112G>A	(Likely) benign	1 lab	1616fe20f3
5:151043670 SPARC G>A	5	151043670	151043670	G	A	SPARC	c.861C>T	NM_003118.4	NP_003109.1:p.(Ala287=)	NC_000005.9:g.151043670G>A	(Likely) benign	1 lab	1621f3ea21
16:29628660 MISSING T>Alt too long to show for this DUP	16	29628660	30177807	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29628661_30177807dup	(Likely) pathogenic	1 lab	1628c7d15c
20:33338325 NCOA6 TA>T	20	33338325	33338338	TA	T	NCOA6	c.1676-4del	NM_014071.5	NP_054790.2:p.?	NC_000020.10:g.33338338del	(Likely) benign	1 lab	162a0bc9b8
2:110962503 NPHP1 G>T	2	110962503	110962503	G	T	NPHP1	c.43C>A	NM_000272.5	NP_000263.2:p.(Arg15Ser)	NC_000002.11:g.110962503G>T	(Likely) benign	1 lab	162eb634a9
5:72815252 MISSING A>Alt too long to show for this DUP	5	72815252	72878759	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.72815253_72878759dup	VUS	1 lab	1636ad8e3e
4:120107334 MYOZ2 AC>A	4	120107334	120107336	AC	A	MYOZ2	c.776del	NM_016599.5	NP_057683.1:p.(Pro259GlnfsTer15)	NC_000004.11:g.120107336del	VUS	1 lab	163b2dba8a
X:67442910 MISSING A>Alt too long to show for this DUP	X	67442910	67716255	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.67442911_67716255dup	VUS	1 lab	163dbaf88e
9:77367203 TRPM6 T>C	9	77367203	77367203	T	C	TRPM6	c.4988A>G	NM_017662.5	NP_060132.3:p.(Gln1663Arg)	NC_000009.11:g.77367203T>C	(Likely) benign	1 lab	163de7604e
1:3342140 PRDM16 T>G	1	3342140	3342140	T	G	PRDM16	c.2940-5T>G	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342140T>G	VUS	1 lab	16489b4163
11:47364208 MYBPC3 G>A	11	47364208	47364208	G	A	MYBPC3	c.1545C>T	NM_000256.3	NP_000247.2:p.(Asn515=)	NC_000011.9:g.47364208G>A	(Likely) benign	1 lab	1648a7b444
11:47358580 MYBPC3 C>G	11	47358580	47358580	C	G	MYBPC3	c.2602+362G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358580C>G	(Likely) benign	1 lab	164d0e593a
19:17766923 UNC13A ACCT>A	19	17766923	17766943	ACCT	A	UNC13A	c.1049_1051del	NM_001080421.3	NP_001073890.2:p.(Glu350del)	NC_000019.9:g.17766941_17766943del	(Likely) benign	1 lab	164ffd7b52
12:11214326 TAS2R46 G>C	12	11214326	11214326	G	C	TAS2R46	c.568C>G	NM_176887.2	NP_795368.2:p.(Leu190Val)	NC_000012.11:g.11214326G>C	(Likely) benign	1 lab	1652edf0e0
19:42910394 LIPE C>T	19	42910394	42910394	C	T	LIPE	c.2284G>A	NM_005357.4	NP_005348.2:p.(Ala762Thr)	NC_000019.9:g.42910394C>T	VUS	1 lab	165333c4a6
4:140811063 MAML3 TTGCTGCTGC>T	4	140811063	140811122	TTGCTGCTGC	T	MAML3	c.1518_1526del	NM_018717.5	NP_061187.3:p.(Gln508_Gln510del)	NC_000004.11:g.140811114_140811122del	(Likely) benign	1 lab	1653b31216
8:1876586 ARHGEF10 G>A	8	1876586	1876586	G	A	ARHGEF10	c.2770-7G>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1876586G>A	(Likely) benign	1 lab	1653c3651b
10:75758043 VCL G>A	10	75758043	75758043	G	A	VCL	c.78G>A	NM_003373.4	NP_003364.1:p.(Met26Ile)	NC_000010.10:g.75758043G>A	VUS	1 lab	1653fbb710
X:91548773 PCDH11X C>Alt too long to show for this DUP	X	91548773	91653864	C	Alt too long to show for this DUP	PCDH11X	c.3144+30634_3343+10932dup	NM_032968.5	NP_116750.1:p.?	NC_000023.10:g.91548776_91653864dup	(Likely) pathogenic	1 lab	1654e8c12f
19:45409608 APOE A>C	19	45409608	45409608	A	C	APOE	c.56-251A>C	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409608A>C	(Likely) benign	1 lab	16552b7c4b
2:44099265 ABCG8 C>A	2	44099265	44099265	C	A	ABCG8	c.1115C>A	NM_022437.3	NP_071882.1:p.(Thr372Asn)	NC_000002.11:g.44099265C>A	(Likely) benign	1 lab	1655992796
1:3350173 PRDM16 T>TGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC	1	3350173	3350213	T	TGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC	PRDM16	c.3697-29_3697-28insGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350212_3350213insGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCCGGGATGGCCCGCCCTGCCCACGCGCTCACCTGCCTGTCC	(Likely) benign	1 lab	16560bd0f7
1:110091339 GNAI3 C>T	1	110091339	110091339	C	T	GNAI3	c.-4C>T	NM_006496.4	NP_006487.1:p.?	NC_000001.10:g.110091339C>T	(Likely) benign	1 lab	167054e2d2
5:16475277 RETREG1 C>T	5	16475277	16475277	C	T	RETREG1	c.1067G>A	NM_001034850.3	NP_001030022.1:p.(Gly356Asp)	NC_000005.9:g.16475277C>T	VUS	1 lab	16799c1910
1:150316751 PRPF3 G>T	1	150316751	150316751	G	T	PRPF3	c.1526+14G>T	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150316751G>T	(Likely) benign	1 lab	167a5e3de7
9:107571788 ABCA1 G>A	9	107571788	107571788	G	A	ABCA1	c.4233C>T	NM_005502.4	NP_005493.2:p.(Asp1411=)	NC_000009.11:g.107571788G>A	(Likely) benign	1 lab	167dc8e40c
10:118347261 MISSING T>Alt too long to show for this DUP	10	118347261	118385852	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.118347262_118385852dup	VUS	1 lab	167e7465c8
8:19796986 LPL C>T	8	19796986	19796986	C	T	LPL	c.35C>T	NM_000237.3	NP_000228.1:p.(Ala12Val)	NC_000008.10:g.19796986C>T	(Likely) benign	1 lab	1681808353
12:119624864 HSPB8 T>C	12	119624864	119624864	T	C	HSPB8	c.402T>C	NM_014365.3	NP_055180.1:p.(Ile134=)	NC_000012.11:g.119624864T>C	(Likely) benign	1 lab	1682efd9a1
4:121719544 PRDM5 A>T	4	121719544	121719544	A	T	PRDM5	c.1066T>A	NM_018699.4	NP_061169.2:p.(Ser356Thr)	NC_000004.11:g.121719544A>T	(Likely) benign	1 lab	168b2cc647
8:55372387 SOX17 C>G	8	55372387	55372387	C	G	SOX17	c.1077C>G	NM_022454.4	NP_071899.1:p.(Asp359Glu)	NC_000008.10:g.55372387C>G	(Likely) benign	1 lab	168de99759
11:68181494 LRP5 G>C	11	68181494	68181494	G	C	LRP5	c.2827+14G>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68181494G>C	(Likely) benign	1 lab	16949a3c66
12:122248648 SETD1B C>T	12	122248648	122248648	C	T	SETD1B	c.1797C>T	NM_001353345.2	NP_001340274.1:p.(Gly599=)	NC_000012.11:g.122248648C>T	(Likely) benign	1 lab	16964bab56
15:89758329 RLBP1 T>C	15	89758329	89758329	T	C	RLBP1	c.487A>G	NM_000326.5	NP_000317.1:p.(Ile163Val)	NC_000015.9:g.89758329T>C	VUS	1 lab	169bec61c7
4:121739667 PRDM5 T>A	4	121739667	121739667	T	A	PRDM5	c.491A>T	NM_018699.4	NP_061169.2:p.(Lys164Ile)	NC_000004.11:g.121739667T>A	(Likely) benign	1 lab	16c558645c
13:50124760 RCBTB1 A>Alt too long to show for this DUP	13	50124760	50158950	A	Alt too long to show for this DUP	RCBTB1	c.-122+630_854+701dup	NM_018191.4	NP_060661.3:p.?	NC_000013.10:g.50124761_50158950dup	VUS	1 lab	169c1cee5e
4:3076672 HTT A>G	4	3076672	3076672	A	G	HTT	c.126A>G	NM_002111.8	NP_002102.4:p.(Pro42=)	NC_000004.11:g.3076672A>G	(Likely) benign	1 lab	169c8e3b8c
7:30640739 GARS1 C>G	7	30640739	30640739	C	G	GARS1	c.330C>G	NM_001316772.1	NP_001303701.1:p.(Thr110=)	NC_000007.13:g.30640739C>G	(Likely) benign	1 lab	169dee3718
2:44054926 ABCG5 G>A	2	44054926	44054926	G	A	ABCG5	c.634+196C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44054926G>A	(Likely) benign	1 lab	169ec5a1cf
7:91690697 AKAP9 G>A	7	91690697	91690697	G	A	AKAP9	c.5725G>A	NM_005751.5	NP_005742.4:p.(Ala1909Thr)	NC_000007.13:g.91690697G>A	VUS	1 lab	16a554e686
8:59410884 CYP7A1 A>G	8	59410884	59410884	A	G	CYP7A1	c.225T>C	NM_000780.4	NP_000771.2:p.(Tyr75=)	NC_000008.10:g.59410884A>G	(Likely) benign	1 lab	16a6294cb0
14:105181082 INF2 G>A	14	105181082	105181082	G	A	INF2	c.3583G>A	NM_022489.4	NP_071934.3:p.(Glu1195Lys)	NC_000014.8:g.105181082G>A	VUS	1 lab	16a9e4473b
2:21229165 APOB G>A	2	21229165	21229165	G	A	APOB	c.10575C>T	NM_000384.3	NP_000375.3:p.(Ser3525=)	NC_000002.11:g.21229165G>A	(Likely) benign	1 lab	16ad65f414
8:134144086 TG C>T	8	134144086	134144086	C	T	TG	c.7893C>T	NM_003235.5	NP_003226.4:p.(Ala2631=)	NC_000008.10:g.134144086C>T	(Likely) benign	1 lab	16ade13812
9:111663754 ELP1 G>A	9	111663754	111663754	G	A	ELP1	c.1965C>T	NM_003640.5	NP_003631.2:p.(Thr655=)	NC_000009.11:g.111663754G>A	(Likely) benign	1 lab	16b819b992
1:156096698 LMNA G>C	1	156096698	156096698	G	C	LMNA	c.105G>C	NM_001282624.2	NP_001269553.1:p.(Gly35=)	NC_000001.10:g.156096698G>C	(Likely) benign	1 lab	16b9032b86
3:123452786 MYLK G>T	3	123452786	123452786	G	T	MYLK	c.1057C>A	NM_053025.4	NP_444253.3:p.(Gln353Lys)	NC_000003.11:g.123452786G>T	VUS	1 lab	16b9310602
12:48371798 COL2A1 G>A	12	48371798	48371798	G	A	COL2A1	c.3106C>T	NM_001844.5	NP_001835.3:p.(Arg1036Ter)	NC_000012.11:g.48371798G>A	(Likely) pathogenic	1 lab	16bc4a644e
8:55539739 RP1 C>T	8	55539739	55539739	C	T	RP1	c.3297C>T	NM_006269.2	NP_006260.1:p.(His1099=)	NC_000008.10:g.55539739C>T	(Likely) benign	1 lab	16c546c1f4
2:73613071 MISSING A>G	2	73613071	73613071	A	G	MISSING				NC_000002.11:g.73613071A>G	(Likely) benign	1 lab	dd96a852a6
10:13341992 PHYH G>T	10	13341992	13341992	G	T	PHYH	c.51C>A	NM_006214.4	NP_006205.1:p.(Leu17=)	NC_000010.10:g.13341992G>T	(Likely) benign	1 lab	16c6555d72
2:220283249 DES C>A	2	220283249	220283249	C	A	DES	c.65C>A	NM_001927.4	NP_001918.3:p.(Pro22Gln)	NC_000002.11:g.220283249C>A	VUS	1 lab	16cbfc8c89
14:23864615 MISSING Ref too long to show for this DEL>T	14	23864615	23897151	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.23864616_23897151del	VUS	1 lab	16d4ddc765
11:76895777 MYO7A G>A	11	76895777	76895777	G	A	MYO7A	c.3503+17G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76895777G>A	(Likely) benign	1 lab	16d5da09f5
16:921426 LMF1 G>A	16	921426	921426	G	A	LMF1	c.499-85C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921426G>A	VUS	1 lab	16d8986c79
12:124371835 DNAH10 G>A	12	124371835	124371835	G	A	DNAH10	c.8616G>A	NM_207437.3	NP_997320.2:p.(Glu2872=)	NC_000012.11:g.124371835G>A	(Likely) benign	1 lab	16da2040a8
8:19819221 LPL A>C	8	19819221	19819221	A	C	LPL	c.1323-405A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819221A>C	(Likely) benign	1 lab	16ec6431e6
10:64573733 EGR2 A>G	10	64573733	64573733	A	G	EGR2	c.665T>C	NM_000399.5	NP_000390.2:p.(Met222Thr)	NC_000010.10:g.64573733A>G	VUS	1 lab	16efc829c9
6:16130559 MYLIP A>G	6	16130559	16130559	A	G	MYLIP	c.88-229A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16130559A>G	(Likely) benign	1 lab	16f44967bf
6:157099402 ARID1B CCAG>C	6	157099402	157099425	CCAG	C	ARID1B	c.609_611del	NM_001371656.1	NP_001358585.1:p.(Gln214del)	NC_000006.11:g.157099423_157099425del	(Likely) benign	1 lab	16f687a958
12:49375055 WNT1 C>A	12	49375055	49375055	C	A	WNT1	c.745C>A	NM_005430.4	NP_005421.1:p.(Arg249Ser)	NC_000012.11:g.49375055C>A	VUS	1 lab	16fddca9ec
19:10904505 DNM2 G>C	19	10904505	10904505	G	C	DNM2	c.1102G>C	NM_001005360.3	NP_001005360.1:p.(Glu368Gln)	NC_000019.9:g.10904505G>C	(Likely) pathogenic	1 lab	16ffffc658
8:10466595 RP1L1 G>A	8	10466595	10466595	G	A	RP1L1	c.5013C>T	NM_178857.6	NP_849188.4:p.(Ser1671=)	NC_000008.10:g.10466595G>A	(Likely) benign	1 lab	1703478502
2:44052133 ABCG5 T>G	2	44052133	44052133	T	G	ABCG5	c.799A>C	NM_022436.3	NP_071881.1:p.(Ser267Arg)	NC_000002.11:g.44052133T>G	VUS	1 lab	1705a4d295
1:161277049 MPZ G>A	1	161277049	161277049	G	A	MPZ	c.233C>T	NM_000530.8	NP_000521.2:p.(Ser78Leu)	NC_000001.10:g.161277049G>A	(Likely) pathogenic	1 lab	1707532b1e
20:744510 SLC52A3 G>A	20	744510	744510	G	A	SLC52A3	c.705C>T	NM_001370086.1	NP_001357015.1:p.(Leu235=)	NC_000020.10:g.744510G>A	(Likely) benign	1 lab	17098cf68c
19:11222744 LDLR A>C	19	11222744	11222744	A	C	LDLR	c.1186+429A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222744A>C	(Likely) benign	1 lab	170cc503e4
2:44072954 ABCG8 T>G	2	44072954	44072954	T	G	ABCG8	c.166-340T>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072954T>G	(Likely) benign	1 lab	1710073485
11:46341802 CREB3L1 A>G	11	46341802	46341802	A	G	CREB3L1	c.1259-13A>G	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46341802A>G	(Likely) benign	1 lab	1712682e70
7:2082840 MISSING Ref too long to show for this DEL>C	7	2082840	8281786	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.2082841_8281786del	(Likely) pathogenic	1 lab	17157735ee
7:128035268 IMPDH1 C>T	7	128035268	128035268	C	T	IMPDH1	c.1322G>A	NM_000883.4	NP_000874.2:p.(Arg441His)	NC_000007.13:g.128035268C>T	VUS	1 lab	171e77ca1c
1:160208439 DCAF8 C>T	1	160208439	160208439	C	T	DCAF8	c.822G>A	NM_015726.4	NP_056541.2:p.(Lys274=)	NC_000001.10:g.160208439C>T	(Likely) benign	1 lab	171f448a21
10:70446110 TET1 C>T	10	70446110	70446110	C	T	TET1	c.5053-3C>T	NM_030625.3	NP_085128.2:p.?	NC_000010.10:g.70446110C>T	(Likely) benign	1 lab	17211617c6
19:39406696 SARS2 TC>T	19	39406696	39406700	TC	T	SARS2	c.1333del	NM_001145901.2	NP_001139373.1:p.(Glu445SerfsTer8)	NC_000019.9:g.39406700del	(Likely) pathogenic	1 lab	172288b682
2:220494053 SLC4A3 TGAGGAAGAG>T	2	220494053	220494082	TGAGGAAGAG	T	SLC4A3	c.426_434del	NM_001326559.2	NP_001313488.2:p.(Glu143_Glu145del)	NC_000002.11:g.220494074_220494082del	(Likely) benign	1 lab	1726f2c22b
11:47358821 MYBPC3 G>A	11	47358821	47358821	G	A	MYBPC3	c.2602+121C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358821G>A	(Likely) benign	1 lab	17292b2eee
2:219679417 CYP27A1 T>C	2	219679417	219679417	T	C	CYP27A1	c.1413T>C	NM_000784.4	NP_000775.1:p.(Tyr471=)	NC_000002.11:g.219679417T>C	(Likely) benign	1 lab	172f0808fa
2:56103891 EFEMP1 TTA>T	2	56103891	56103906	TTA	T	EFEMP1	c.761-16_761-15del	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56103905_56103906del	(Likely) benign	1 lab	1733459856
14:23857149 MYH6 C>T	14	23857149	23857149	C	T	MYH6	c.4360-17G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857149C>T	(Likely) benign	1 lab	173371f1a4
4:84391410 ABRAXAS1 G>A	4	84391410	84391410	G	A	ABRAXAS1	c.422C>T	NM_139076.3	NP_620775.2:p.(Thr141Ile)	NC_000004.11:g.84391410G>A	(Likely) benign	1 lab	1736498c4c
15:28517457 HERC2 G>A	15	28517457	28517457	G	A	HERC2	c.987C>T	NM_004667.6	NP_004658.3:p.(Ser329=)	NC_000015.9:g.28517457G>A	(Likely) benign	1 lab	1736674eca
6:36452603 KCTD20 TA>T	6	36452603	36452619	TA	T	KCTD20	c.967+18del	NM_173562.5	NP_775833.2:p.?	NC_000006.11:g.36452619del	(Likely) benign	1 lab	1745dd7863
15:85382302 ALPK3 C>A	15	85382302	85382302	C	A	ALPK3	c.396C>A	NM_020778.5	NP_065829.4:p.(Gly132=)	NC_000015.9:g.85382302C>A	(Likely) benign	1 lab	174aa6ca4a
1:63064386 ANGPTL3 A>G	1	63064386	63064386	A	G	ANGPTL3	c.515A>G	NM_014495.4	NP_055310.1:p.(Asp172Gly)	NC_000001.10:g.63064386A>G	VUS	1 lab	174eb963c4
2:179437928 TTN-AS1 T>C	2	179437928	179437928	T	C	TTN-AS1	n.2044-9371T>C	NR_038272.1		NC_000002.11:g.179437928T>C	(Likely) benign	1 lab	17548e47f8
5:131304137 ACSL6 Ref too long to show for this DEL>T	5	131304137	131316699	Ref too long to show for this DEL	T	ACSL6	c.917-4285_1508-417del	NM_001009185.3	NP_001009185.1:p.?	NC_000005.9:g.131304138_131316699del	VUS	1 lab	1761fa1d03
2:179659199 TTN A>G	2	179659199	179659199	A	G	TTN	c.1325T>C	NM_133378.4	NP_596869.4:p.(Val442Ala)	NC_000002.11:g.179659199A>G	VUS	1 lab	1766136ca5
7:128476925 FLNC G>T	7	128476925	128476925	G	T	FLNC	c.602-289G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128476925G>T	(Likely) benign	1 lab	176ab8fdcb
11:34937075 PDHX T>Alt too long to show for this DUP	11	34937075	34942993	T	Alt too long to show for this DUP	PDHX				NC_000011.9:g.34937076_34942993dup	VUS	1 lab	176afdb329
5:7885794 MTRR T>TTC	5	7885794	7885795	T	TTC	MTRR	c.904-20_904-19insTC	NM_001364440.2	NP_001351369.1:p.?	NC_000005.9:g.7885794_7885795insTC	(Likely) benign	1 lab	176c854857
6:112528329 LAMA4 T>C	6	112528329	112528329	T	C	LAMA4	c.315A>G	NM_002290.5	NP_002281.3:p.(Thr105=)	NC_000006.11:g.112528329T>C	(Likely) benign	1 lab	176d82c82f
1:63063449 ANGPTL3 T>C	1	63063449	63063449	T	C	ANGPTL3	c.212T>C	NM_014495.4	NP_055310.1:p.(Ile71Thr)	NC_000001.10:g.63063449T>C	VUS	1 lab	1779c4766a
16:81388328 GAN C>T	16	81388328	81388328	C	T	GAN	c.601C>T	NM_022041.4	NP_071324.1:p.(Arg201Ter)	NC_000016.9:g.81388328C>T	(Likely) pathogenic	1 lab	1779f7ef0d
20:2380225 TGM6 C>T	20	2380225	2380225	C	T	TGM6	c.691C>T	NM_198994.3	NP_945345.2:p.(Arg231Ter)	NC_000020.10:g.2380225C>T	VUS	1 lab	177e0089e5
2:113994191 PAX8 G>A	2	113994191	113994191	G	A	PAX8	c.885C>T	NM_003466.4	NP_003457.1:p.(Tyr295=)	NC_000002.11:g.113994191G>A	(Likely) benign	1 lab	177e7a373a
15:48829826 FBN1 G>A	15	48829826	48829826	G	A	FBN1	c.718C>T	NM_000138.5	NP_000129.3:p.(Arg240Cys)	NC_000015.9:g.48829826G>A	(Likely) pathogenic	1 lab	1785d6d393
7:77600817 MISSING C>Alt too long to show for this DUP	7	77600817	77833979	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.77600821_77833979dup	VUS	1 lab	178629fc4f
2:21225761 APOB A>C	2	21225761	21225761	A	C	APOB	c.12533T>G	NM_000384.3	NP_000375.3:p.(Val4178Gly)	NC_000002.11:g.21225761A>C	VUS	1 lab	17867db6ad
2:25059846 ADCY3 G>A	2	25059846	25059846	G	A	ADCY3	c.1668C>T	NM_001377128.1	NP_001364057.1:p.(Pro556=)	NC_000002.11:g.25059846G>A	(Likely) benign	1 lab	1791e8a5d8
11:17793838 KCNC1 G>A	11	17793838	17793838	G	A	KCNC1	c.1197G>A	NM_004976.4	NP_004967.1:p.(Thr399=)	NC_000011.9:g.17793838G>A	(Likely) benign	1 lab	17930c5bb6
2:179430895 TTN C>A	2	179430895	179430895	C	A	TTN	c.79964G>T	NM_001267550.2	NP_001254479.2:p.(Arg26655Ile)	NC_000002.11:g.179430895C>A	VUS	1 lab	17995ef0b5
16:67976586 LCAT G>T	16	67976586	67976586	G	T	LCAT	c.511C>A	NM_000229.2	NP_000220.1:p.(Arg171=)	NC_000016.9:g.67976586G>T	(Likely) benign	1 lab	17a9f470e7
19:49671832 TRPM4 G>A	19	49671832	49671832	G	A	TRPM4	c.635G>A	NM_017636.4	NP_060106.2:p.(Arg212Gln)	NC_000019.9:g.49671832G>A	VUS	1 lab	17aba5f0f7
2:21258487 APOB C>T	2	21258487	21258487	C	T	APOB	c.787G>A	NM_000384.3	NP_000375.3:p.(Glu263Lys)	NC_000002.11:g.21258487C>T	VUS	1 lab	17af2b64fa
8:10468039 RP1L1 G>A	8	10468039	10468039	G	A	RP1L1	c.3569C>T	NM_178857.6	NP_849188.4:p.(Thr1190Met)	NC_000008.10:g.10468039G>A	VUS	1 lab	17b0866971
19:49705301 TRPM4 G>A	19	49705301	49705301	G	A	TRPM4	c.3034G>A	NM_017636.4	NP_060106.2:p.(Val1012Ile)	NC_000019.9:g.49705301G>A	VUS	1 lab	17b37b9d9c
9:107593620 ABCA1 T>C	9	107593620	107593620	T	C	ABCA1	c.1716-238A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593620T>C	(Likely) benign	1 lab	17b7a4eca0
10:94366898 KIF11 A>G	10	94366898	94366898	A	G	KIF11	c.309-18A>G	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94366898A>G	(Likely) benign	1 lab	17b8ad3ab5
7:128612552 TNPO3 C>T	7	128612552	128612552	C	T	TNPO3	c.2358G>A	NM_012470.4	NP_036602.1:p.(Leu786=)	NC_000007.13:g.128612552C>T	(Likely) benign	1 lab	17b915f8f4
1:112524323 KCND3 G>A	1	112524323	112524323	G	A	KCND3	c.1026C>T	NM_004980.5	NP_004971.2:p.(Ala342=)	NC_000001.10:g.112524323G>A	(Likely) benign	1 lab	17bcc57077
10:88441429 LDB3 G>A	10	88441429	88441429	G	A	LDB3	c.558G>A	NM_001080115.2	NP_001073584.1:p.(Leu186=)	NC_000010.10:g.88441429G>A	(Likely) benign	1 lab	17be11fb72
5:127607502 FBN2 T>A	5	127607502	127607502	T	A	FBN2	c.7960+189A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127607502T>A	(Likely) benign	1 lab	17c041a10a
3:49688155 BSN C>T	3	49688155	49688155	C	T	BSN	c.1629C>T	NM_003458.4	NP_003449.2:p.(Ala543=)	NC_000003.11:g.49688155C>T	(Likely) benign	1 lab	17c12c16e9
5:82818144 VCAN C>G	5	82818144	82818144	C	G	VCAN	c.4003+16C>G	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82818144C>G	(Likely) benign	1 lab	17c2c5b536
9:101900214 TGFBR1 T>G	9	101900214	101900214	T	G	TGFBR1	c.648T>G	NM_004612.4	NP_004603.1:p.(Phe216Leu)	NC_000009.11:g.101900214T>G	(Likely) pathogenic	1 lab	17cb773568
11:68707626 IGHMBP2 C>T	11	68707626	68707626	C	T	IGHMBP2	c.*427C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68707626C>T	(Likely) benign	1 lab	17cf20e71c
5:148406620 SH3TC2 T>G	5	148406620	148406620	T	G	SH3TC2	c.2675A>C	NM_024577.4	NP_078853.2:p.(Gln892Pro)	NC_000005.9:g.148406620T>G	VUS	1 lab	17d4bf485a
1:215931922 USH2A CT>C	1	215931922	215931934	CT	C	USH2A	c.11389+14del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215931934del	(Likely) benign	1 lab	17d53f4ef8
14:88429817 GALC G>A	14	88429817	88429817	G	A	GALC	c.1072C>T	NM_000153.4	NP_000144.2:p.(Leu358=)	NC_000014.8:g.88429817G>A	(Likely) benign	1 lab	17d7fb1b93
20:60737908 SS18L1 G>A	20	60737908	60737908	G	A	SS18L1	c.84G>A	NM_001301778.2	NP_001288707.1:p.(Ser28=)	NC_000020.10:g.60737908G>A	(Likely) benign	1 lab	17dc3571a2
18:47095891 LIPG G>C	18	47095891	47095891	G	C	LIPG	c.544G>C	NM_006033.4	NP_006024.1:p.(Val182Leu)	NC_000018.9:g.47095891G>C	VUS	1 lab	17dee97763
16:28884919 SH2B1 G>A	16	28884919	28884919	G	A	SH2B1	c.2049G>A	NM_001387430.1	NP_001374359.1:p.(Ala683=)	NC_000016.9:g.28884919G>A	(Likely) benign	1 lab	17e357c54e
X:70443604 GJB1 A>C	X	70443604	70443604	A	C	GJB1	c.47A>C	NM_000166.6	NP_000157.1:p.(His16Pro)	NC_000023.10:g.70443604A>C	(Likely) pathogenic	1 lab	17e3fcfaf8
X:30718876 GK A>AAAAT	X	30718876	30718880	A	AAAAT	GK	c.784-78_784-75dup	NM_001205019.2	NP_001191948.1:p.?	NC_000023.10:g.30718877_30718880dup	(Likely) benign	1 lab	17e4244c77
9:32542003 TOPORS A>C	9	32542003	32542003	A	C	TOPORS	c.2520T>G	NM_005802.5	NP_005793.2:p.(Ser840Arg)	NC_000009.11:g.32542003A>C	VUS	1 lab	17e524471a
7:103234816 RELN G>A	7	103234816	103234816	G	A	RELN	c.3663C>T	NM_005045.4	NP_005036.2:p.(Ser1221=)	NC_000007.13:g.103234816G>A	(Likely) benign	1 lab	17e7d05448
2:21241951 APOB C>T	2	21241951	21241951	C	T	APOB	c.3034G>A	NM_000384.3	NP_000375.3:p.(Glu1012Lys)	NC_000002.11:g.21241951C>T	(Likely) benign	1 lab	17ebcc4687
22:50658206 TUBGCP6 G>A	22	50658206	50658206	G	A	TUBGCP6	c.4182C>T	NM_020461.4	NP_065194.3:p.(Ala1394=)	NC_000022.10:g.50658206G>A	(Likely) benign	1 lab	17ef723eff
2:47635523 MSH2 CT>C	2	47635523	47635536	CT	C	MSH2	c.212-4del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635536del	(Likely) benign	1 lab	17f05b24ba
X:38079975 SRPX CGCA>C	X	38079975	38079997	CGCA	C	SRPX	c.68_70del	NM_006307.5	NP_006298.1:p.(Leu23del)	NC_000023.10:g.38079995_38079997del	(Likely) benign	1 lab	17f32b8d42
10:88476134 LDB3 CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG>C	10	88476134	88476195	CCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCCCCTGCCCCTG	C	LDB3	c.1311_1358del	NM_001171610.2	NP_001165081.1:p.(Ala439_Pro454del)	NC_000010.10:g.88476148_88476195del	(Likely) benign	1 lab	17f61219b6
1:6579843 PLEKHG5 C>T	1	6579843	6579843	C	T	PLEKHG5	c.-503G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6579843C>T	(Likely) benign	1 lab	17f7ff7c7c
1:216373476 USH2A GA>G	1	216373476	216373488	GA	G	USH2A	c.3317-14del	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216373488del	(Likely) benign	1 lab	17fd7a5a1b
1:218614268 TGFB2 A>G	1	218614268	218614268	A	G	TGFB2	c.1171-278A>G	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218614268A>G	(Likely) benign	1 lab	17feb64c53
19:7620245 PNPLA6 C>T	19	7620245	7620245	C	T	PNPLA6	c.2958C>T	NM_001166111.2	NP_001159583.1:p.(Gly986=)	NC_000019.9:g.7620245C>T	(Likely) benign	1 lab	17fedf8866
16:15411095 MISSING T>Alt too long to show for this DUP	16	15411095	16309046	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15411096_16309046dup	(Likely) pathogenic	1 lab	17ff19778d
17:42427865 GRN T>C	17	42427865	42427865	T	C	GRN	c.518T>C	NM_002087.4	NP_002078.1:p.(Leu173Pro)	NC_000017.10:g.42427865T>C	VUS	1 lab	19f7848431
16:8837841 MISSING G>Alt too long to show for this DUP	16	8837841	9280202	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.8837845_9280202dup	VUS	1 lab	1800defbd4
19:11224322 LDLR G>A	19	11224322	11224322	G	A	LDLR	c.1470G>A	NM_000527.5	NP_000518.1:p.(Trp490Ter)	NC_000019.9:g.11224322G>A	(Likely) pathogenic	1 lab	180151f06b
1:197073651 ASPM ACT>A	1	197073651	197073655	ACT	A	ASPM	c.4728_4729del	NM_018136.5	NP_060606.3:p.(Arg1576SerfsTer7)	NC_000001.10:g.197073654_197073655del	(Likely) pathogenic	1 lab	180667ab8e
19:11224052 LDLR G>A	19	11224052	11224052	G	A	LDLR	c.1285G>A	NM_000527.5	NP_000518.1:p.(Val429Met)	NC_000019.9:g.11224052G>A	(Likely) pathogenic	1 lab	18068afec9
1:218607596 TGFB2 T>C	1	218607596	218607596	T	C	TGFB2	c.727+40T>C	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218607596T>C	(Likely) benign	1 lab	1808121f39
19:11240172 LDLR C>T	19	11240172	11240172	C	T	LDLR	c.2390-17C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240172C>T	(Likely) benign	1 lab	180838e5e1
19:10270408 DNMT1 C>G	19	10270408	10270408	C	G	DNMT1	c.1206G>C	NM_001130823.3	NP_001124295.1:p.(Leu402=)	NC_000019.9:g.10270408C>G	(Likely) benign	1 lab	18148e51ea
13:33332227 PDS5B G>T	13	33332227	33332227	G	T	PDS5B	c.3059G>T	NM_015032.4	NP_055847.1:p.(Cys1020Phe)	NC_000013.10:g.33332227G>T	(Likely) benign	1 lab	1814a215a8
6:112451160 LAMA4 T>C	6	112451160	112451160	T	C	LAMA4	c.4030A>G	NM_002290.5	NP_002281.3:p.(Lys1344Glu)	NC_000006.11:g.112451160T>C	VUS	1 lab	18178dd2d4
6:144860456 UTRN Ref too long to show for this DEL>T	6	144860456	144973801	Ref too long to show for this DEL	T	UTRN	c.6397_7480-25741del	NM_007124.3	NP_009055.2:p.?	NC_000006.11:g.144860457_144973801del	(Likely) pathogenic	1 lab	1818c3fb6f
14:102484776 DYNC1H1 A>T	14	102484776	102484776	A	T	DYNC1H1	c.8178-12A>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102484776A>T	(Likely) benign	1 lab	181d471e29
19:7038129 MBD3L4 C>T	19	7038129	7038129	C	T	MBD3L4	c.370G>A	NM_001164419.2	NP_001157891.1:p.(Gly124Ser)	NC_000019.9:g.7038129C>T	(Likely) benign	1 lab	181e2d70df
18:29172941 TTR A>C	18	29172941	29172941	A	C	TTR	c.152A>C	NM_000371.4	NP_000362.1:p.(His51Pro)	NC_000018.9:g.29172941A>C	VUS	1 lab	1872070325
5:121413208 LOX C>T	5	121413208	121413208	C	T	LOX	c.473G>A	NM_002317.7	NP_002308.2:p.(Arg158Gln)	NC_000005.9:g.121413208C>T	(Likely) benign	1 lab	18269ccfc8
9:67926945 ANKRD20A1 TC>T	9	67926945	67926947	TC	T	ANKRD20A1	c.75del	NM_032250.5	NP_115626.2:p.(Gly26AspfsTer79)	NC_000009.11:g.67926947del	(Likely) benign	1 lab	182713ffbf
5:82807913 VCAN T>C	5	82807913	82807913	T	C	VCAN	c.749-9T>C	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82807913T>C	(Likely) benign	1 lab	1827c6f9fe
4:7873669 MISSING T>Alt too long to show for this DUP	4	7873669	8289809	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.7873670_8289809dup	VUS	1 lab	1827fd4210
19:45452080 APOC2 G>A	19	45452080	45452080	G	A	APOC2	c.178G>A	NM_000483.5	NP_000474.2:p.(Glu60Lys)	NC_000019.9:g.45452080G>A	VUS	1 lab	182ecc0103
4:100542383 MTTP A>G	4	100542383	100542383	A	G	MTTP	c.2508A>G	NM_000253.4	NP_000244.2:p.(Pro836=)	NC_000004.11:g.100542383A>G	VUS	1 lab	183301d695
6:7559229 DSP G>A	6	7559229	7559229	G	A	DSP	c.423-230G>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559229G>A	(Likely) benign	1 lab	183ca85404
8:19811897 LPL C>G	8	19811897	19811897	C	G	LPL	c.775+33C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811897C>G	(Likely) benign	1 lab	1874718779
10:84071059 NRG3 Ref too long to show for this DEL>T	10	84071059	84200212	Ref too long to show for this DEL	T	NRG3	c.824-47435_953+81588del	NM_001010848.4	NP_001010848.2:p.?	NC_000010.10:g.84071060_84200212del	VUS	1 lab	18414c3b0e
1:22235148 MISSING T>Alt too long to show for this DUP	1	22235148	22328303	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.22235150_22328303dup	(Likely) pathogenic	1 lab	184372534c
1:237811890 RYR2 C>T	1	237811890	237811890	C	T	RYR2	c.7489C>T	NM_001035.3	NP_001026.2:p.(Arg2497Trp)	NC_000001.10:g.237811890C>T	VUS	1 lab	1844a8a894
3:71021806 FOXP1 T>TAA	3	71021806	71021808	T	TAA	FOXP1	c.1550_1551dup	NM_032682.6	NP_116071.2:p.(Ser518LeufsTer10)	NC_000003.11:g.71021807_71021808dup	(Likely) pathogenic	1 lab	184b3c7ed7
2:21247906 APOB T>C	2	21247906	21247906	T	C	APOB	c.2335A>G	NM_000384.3	NP_000375.3:p.(Ile779Val)	NC_000002.11:g.21247906T>C	(Likely) benign	1 lab	1850731bfe
3:195451917 MUC20 G>T	3	195451917	195451917	G	T	MUC20	c.443G>T	NM_001282506.2	NP_001269435.1:p.(Ser148Ile)	NC_000003.11:g.195451917G>T	(Likely) benign	1 lab	18541f3ed9
17:48270097 COL1A1 C>T	17	48270097	48270097	C	T	COL1A1	c.1876-43G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270097C>T	(Likely) benign	1 lab	185b7bb767
19:55665416 TNNI3 C>A	19	55665416	55665416	C	A	TNNI3	c.531G>T	NM_000363.5	NP_000354.4:p.(Lys177Asn)	NC_000019.9:g.55665416C>A	(Likely) pathogenic	1 lab	185c9a99d7
10:55839193 PCDH15 AAAAC>A	10	55839193	55839208	AAAAC	A	PCDH15	c.2013-13_2013-10del	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55839205_55839208del	(Likely) benign	1 lab	185e9e0333
4:100512521 MTTP T>C	4	100512521	100512521	T	C	MTTP	c.618+13T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512521T>C	(Likely) benign	1 lab	185f3e4797
4:16181193 TAPT1 G>T	4	16181193	16181193	G	T	TAPT1	c.997+7C>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16181193G>T	(Likely) benign	1 lab	1863cf3f24
8:55541105 RP1 G>A	8	55541105	55541105	G	A	RP1	c.4663G>A	NM_006269.2	NP_006260.1:p.(Gly1555Arg)	NC_000008.10:g.55541105G>A	VUS	1 lab	18650aa7a9
14:68151878 RDH11 T>C	14	68151878	68151878	T	C	RDH11	c.708A>G	NM_016026.4	NP_057110.3:p.(Gln236=)	NC_000014.8:g.68151878T>C	(Likely) benign	1 lab	1865e945e7
11:116661260 APOA5 G>A	11	116661260	116661260	G	A	APOA5	c.685C>T	NM_052968.5	NP_443200.2:p.(Gln229Ter)	NC_000011.9:g.116661260G>A	(Likely) pathogenic	1 lab	18671815c5
15:35085788 ACTC1 G>T	15	35085788	35085788	G	T	ACTC1	c.130-18C>A	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35085788G>T	(Likely) benign	1 lab	1876c4b153
3:63968054 ATXN7 G>A	3	63968054	63968054	G	A	ATXN7	c.945G>A	NM_000333.4	NP_000324.1:p.(Pro315=)	NC_000003.11:g.63968054G>A	(Likely) benign	1 lab	187a950076
7:2319788 MISSING C>Alt too long to show for this DUP	7	2319788	2410827	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.2319790_2410827dup	VUS	1 lab	187afe5944
7:128045814 IMPDH1 C>G	7	128045814	128045814	C	G	IMPDH1	c.353+7G>C	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128045814C>G	(Likely) benign	1 lab	1889703b25
2:179444020 TTN A>C	2	179444020	179444020	A	C	TTN	c.67737T>G	NM_001267550.2	NP_001254479.2:p.(Ala22579=)	NC_000002.11:g.179444020A>C	(Likely) benign	1 lab	1892681f1c
16:72144982 DHX38 C>T	16	72144982	72144982	C	T	DHX38	c.3599+6C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72144982C>T	(Likely) benign	1 lab	1893a6a8b4
19:8201266 FBN3 G>T	19	8201266	8201266	G	T	FBN3	c.1345+6C>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8201266G>T	(Likely) benign	1 lab	1893da212d
9:107547892 ABCA1 G>A	9	107547892	107547892	G	A	ABCA1	c.6430C>T	NM_005502.4	NP_005493.2:p.(Arg2144Ter)	NC_000009.11:g.107547892G>A	(Likely) pathogenic	1 lab	189e137bfd
8:82292711 MISSING Ref too long to show for this DEL>A	8	82292711	82411480	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.82292713_82411480del	VUS	1 lab	18a336ecdd
1:236912712 ACTN2 A>T	1	236912712	236912712	A	T	ACTN2	c.1656+148A>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912712A>T	(Likely) benign	1 lab	18a3b01feb
11:116707790 APOA1 C>T	11	116707790	116707790	C	T	APOA1	c.127G>A	NM_001318017.2	NP_001304946.1:p.(Val43Met)	NC_000011.9:g.116707790C>T	VUS	1 lab	18ac594077
9:133948176 LAMC3 C>T	9	133948176	133948176	C	T	LAMC3	c.3371C>T	NM_006059.4	NP_006050.3:p.(Ser1124Phe)	NC_000009.11:g.133948176C>T	(Likely) benign	1 lab	18ada2827e
15:48789518 FBN1 A>T	15	48789518	48789518	A	T	FBN1	c.2238T>A	NM_000138.5	NP_000129.3:p.(Tyr746Ter)	NC_000015.9:g.48789518A>T	(Likely) pathogenic	1 lab	18b51be7b2
1:76262899 MSH4 TC>T	1	76262899	76262902	TC	T	MSH4	c.232del	NM_002440.4	NP_002431.2:p.(Arg78GlyfsTer81)	NC_000001.10:g.76262902del	(Likely) pathogenic	1 lab	18b5461be4
2:179579225 TTN A>G	2	179579225	179579225	A	G	TTN	c.26276T>C	NM_001267550.2	NP_001254479.2:p.(Ile8759Thr)	NC_000002.11:g.179579225A>G	VUS	1 lab	18b7d68f10
5:95734653 PCSK1 A>G	5	95734653	95734653	A	G	PCSK1	c.1518T>C	NM_000439.5	NP_000430.3:p.(His506=)	NC_000005.9:g.95734653A>G	(Likely) benign	1 lab	18b8e8a432
11:119215090 MFRP T>TC	11	119215090	119215096	T	TC	MFRP	c.909dup	NM_031433.4	NP_113621.1:p.(Asn304GlufsTer54)	NC_000011.9:g.119215096dup	(Likely) pathogenic	1 lab	18bae901b5
15:86931628 AGBL1 T>Alt too long to show for this DUP	15	86931628	87029610	T	Alt too long to show for this DUP	AGBL1	c.2375-8967_2556-36431dup	NM_001386094.1	NP_001373023.1:p.?	NC_000015.9:g.86931630_87029610dup	VUS	1 lab	18bc628cec
X:9665400 TBL1X G>A	X	9665400	9665400	G	A	TBL1X	c.1054-9G>A	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9665400G>A	(Likely) pathogenic	1 lab	18c6cf4b20
12:33031883 PKP2 G>T	12	33031883	33031883	G	T	PKP2	c.307C>A	NM_004572.4	NP_004563.2:p.(Pro103Thr)	NC_000012.11:g.33031883G>T	VUS	1 lab	18c9aa465b
20:5092253 TMEM230 TAAAAAAAAAAAAA>T	20	5092253	5092293	TAAAAAAAAAAAAA	T	TMEM230	c.-121-15_-121-3del	NM_001009924.2	NP_001009924.1:p.?	NC_000020.10:g.5092281_5092293del	(Likely) benign	1 lab	18caf16507
5:147788798 FBXO38 A>G	5	147788798	147788798	A	G	FBXO38	c.962+18A>G	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147788798A>G	(Likely) benign	1 lab	18cb8be0fd
13:20501364 MISSING C>Alt too long to show for this DUP	13	20501364	20618793	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.20501365_20618793dup	VUS	1 lab	18cfc3e472
4:44700590 GUF1 G>C	4	44700590	44700590	G	C	GUF1	c.930G>C	NM_001345867.2	NP_001332796.1:p.(Lys310Asn)	NC_000004.11:g.44700590G>C	VUS	1 lab	18d47548a3
7:127894808 LEP G>C	7	127894808	127894808	G	C	LEP	c.496G>C	NM_000230.3	NP_000221.1:p.(Gly166Arg)	NC_000007.13:g.127894808G>C	VUS	1 lab	18d7b895e5
11:116707115 APOA1 A>C	11	116707115	116707115	A	C	APOA1	c.213T>G	NM_001318017.2	NP_001304946.1:p.(Leu71=)	NC_000011.9:g.116707115A>C	(Likely) benign	1 lab	18d823713b
2:179498743 TTN A>G	2	179498743	179498743	A	G	TTN	c.42483T>C	NM_001267550.2	NP_001254479.2:p.(Phe14161=)	NC_000002.11:g.179498743A>G	(Likely) benign	1 lab	18ddb01408
11:2606529 KCNQ1 CTCAT>C	11	2606529	2606536	CTCAT	C	KCNQ1	c.1124_1127del	NM_000218.3	NP_000209.2:p.(Ile375ArgfsTer43)	NC_000011.9:g.2606533_2606536del	(Likely) pathogenic	1 lab	18e5f2a254
11:47356365 MYBPC3 T>C	11	47356365	47356365	T	C	MYBPC3	c.2905+228A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356365T>C	(Likely) benign	1 lab	18e69803f6
14:91804487 CCDC88C G>A	14	91804487	91804487	G	A	CCDC88C	c.912C>T	NM_001080414.4	NP_001073883.2:p.(Asp304=)	NC_000014.8:g.91804487G>A	(Likely) benign	1 lab	18e7a0a12f
2:233194503 DIS3L2 A>C	2	233194503	233194503	A	C	DIS3L2	c.1740-20A>C	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233194503A>C	(Likely) benign	1 lab	18e8021872
1:156104304 LMNA G>A	1	156104304	156104304	G	A	LMNA	c.624G>A	NM_170707.4	NP_733821.1:p.(Lys208=)	NC_000001.10:g.156104304G>A	(Likely) benign	1 lab	18ef1d9fb5
14:76349013 TTLL5 C>CT	14	76349013	76349023	C	CT	TTLL5	c.3523-5dup	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76349023dup	(Likely) benign	1 lab	18efbf9450
1:12049409 MFN2 G>A	1	12049409	12049409	G	A	MFN2	c.175+9G>A	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12049409G>A	(Likely) benign	1 lab	18f8325e16
12:125302120 SCARB1 C>T	12	125302120	125302120	C	T	SCARB1	c.260G>A	NM_005505.5	NP_005496.4:p.(Arg87Gln)	NC_000012.11:g.125302120C>T	(Likely) benign	1 lab	18fb79af5a
5:150682208 MISSING Ref too long to show for this DEL>G	5	150682208	150712522	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.150682209_150712522del	VUS	1 lab	18febbc24b
19:17994836 SLC5A5 G>A	19	17994836	17994836	G	A	SLC5A5	c.1507G>A	NM_000453.3	NP_000444.1:p.(Asp503Asn)	NC_000019.9:g.17994836G>A	(Likely) benign	1 lab	1903aba0fb
9:107582207 ABCA1 C>T	9	107582207	107582207	C	T	ABCA1	c.3103+1G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582207C>T	(Likely) pathogenic	1 lab	1905f448f1
16:28877992 SH2B1 G>A	16	28877992	28877992	G	A	SH2B1	c.577G>A	NM_015503.3	NP_056318.2:p.(Val193Ile)	NC_000016.9:g.28877992G>A	VUS	1 lab	190e599b6e
2:238016026 MISSING G>Alt too long to show for this DUP	2	238016026	238532143	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.238016027_238532143dup	VUS	1 lab	191953bc02
18:53111952 TCF4 Ref too long to show for this DEL>A	18	53111952	53119508	Ref too long to show for this DEL	A	TCF4	c.304+8742_304+16297del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53111953_53119508del	VUS	1 lab	191ca29909
12:41743013 PDZRN4 Ref too long to show for this DEL>T	12	41743013	41769497	Ref too long to show for this DEL	T	PDZRN4	c.843+155025_844-130761del	NM_001164595.2	NP_001158067.1:p.?	NC_000012.11:g.41743015_41769497del	VUS	1 lab	1927281039
18:34232657 FHOD3 G>A	18	34232657	34232657	G	A	FHOD3	c.1411G>A	NM_001281740.3	NP_001268669.1:p.(Gly471Arg)	NC_000018.9:g.34232657G>A	(Likely) benign	1 lab	19278086cd
19:11211033 LDLR T>G	19	11211033	11211033	T	G	LDLR	c.190+12T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211033T>G	(Likely) benign	1 lab	1928b75617
19:11227583 LDLR T>C	19	11227583	11227583	T	C	LDLR	c.1754T>C	NM_000527.5	NP_000518.1:p.(Ile585Thr)	NC_000019.9:g.11227583T>C	(Likely) pathogenic	1 lab	1928e34e23
2:44051223 ABCG5 C>T	2	44051223	44051223	C	T	ABCG5	c.1153G>A	NM_022436.3	NP_071881.1:p.(Ala385Thr)	NC_000002.11:g.44051223C>T	VUS	1 lab	19302ad410
1:11174851 MTOR G>A	1	11174851	11174851	G	A	MTOR	c.7164+19C>T	NM_004958.4	NP_004949.1:p.?	NC_000001.10:g.11174851G>A	(Likely) benign	1 lab	19336ec39f
16:28883949 SH2B1 A>G	16	28883949	28883949	A	G	SH2B1	c.1820A>G	NM_015503.3	NP_056318.2:p.(His607Arg)	NC_000016.9:g.28883949A>G	VUS	1 lab	1933fc2ccc
9:107594987 ABCA1 T>G	9	107594987	107594987	T	G	ABCA1	c.1377A>C	NM_005502.4	NP_005493.2:p.(Thr459=)	NC_000009.11:g.107594987T>G	(Likely) benign	1 lab	19383e8e03
X:49088195 CACNA1F A>G	X	49088195	49088195	A	G	CACNA1F	c.220T>C	NM_005183.4	NP_005174.2:p.(Cys74Arg)	NC_000023.10:g.49088195A>G	VUS	1 lab	194015f3e5
16:70883684 HYDIN AG>A	16	70883684	70883687	AG	A	HYDIN	c.12817del	NM_001270974.2	NP_001257903.1:p.(Leu4273CysfsTer6)	NC_000016.9:g.70883687del	(Likely) pathogenic	1 lab	19505a3e7d
9:107552939 ABCA1 A>G	9	107552939	107552939	A	G	ABCA1	c.5927+264T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107552939A>G	(Likely) benign	1 lab	19575bf1f3
3:160253688 KPNA4 TA>T	3	160253688	160253713	TA	T	KPNA4	c.115-4del	NM_002268.5	NP_002259.1:p.?	NC_000003.11:g.160253713del	(Likely) benign	1 lab	19606d3518
19:10247975 DNMT1 C>G	19	10247975	10247975	C	G	DNMT1	c.4294-19G>C	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10247975C>G	(Likely) benign	1 lab	1964c493cd
3:38597965 SCN5A G>A	3	38597965	38597965	G	A	SCN5A	c.4404C>T	NM_198056.3	NP_932173.1:p.(Val1468=)	NC_000003.11:g.38597965G>A	(Likely) benign	1 lab	19671dbaa9
2:48033640 MSH6 C>T	2	48033640	48033640	C	T	MSH6	c.3851C>T	NM_000179.3	NP_000170.1:p.(Thr1284Met)	NC_000002.11:g.48033640C>T	VUS	1 lab	196df49493
2:1664701 PXDN G>A	2	1664701	1664701	G	A	PXDN	c.1789C>T	NM_012293.3	NP_036425.1:p.(Arg597Trp)	NC_000002.11:g.1664701G>A	VUS	1 lab	19709b84d4
19:18120226 MISSING G>Alt too long to show for this DUP	19	18120226	18233018	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.18120227_18233018dup	(Likely) pathogenic	1 lab	1974a1da94
9:113244732 SVEP1 G>T	9	113244732	113244732	G	T	SVEP1	c.2079C>A	NM_153366.4	NP_699197.3:p.(Asp693Glu)	NC_000009.11:g.113244732G>T	(Likely) benign	1 lab	1974e35abc
15:22752398 MISSING Ref too long to show for this DEL>A	15	22752398	23191762	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22752400_23191762del	(Likely) pathogenic	1 lab	19756b1fd6
3:38592125 SCN5A C>T	3	38592125	38592125	C	T	SCN5A	c.5738G>A	NM_198056.3	NP_932173.1:p.(Arg1913His)	NC_000003.11:g.38592125C>T	VUS	1 lab	19756baa86
16:81388310 GAN G>T	16	81388310	81388310	G	T	GAN	c.583G>T	NM_022041.4	NP_071324.1:p.(Val195Phe)	NC_000016.9:g.81388310G>T	(Likely) pathogenic	1 lab	197626a09e
7:128494185 FLNC C>T	7	128494185	128494185	C	T	FLNC	c.6642C>T	NM_001458.5	NP_001449.3:p.(Gly2214=)	NC_000007.13:g.128494185C>T	(Likely) benign	1 lab	19810024d2
7:94024680 COL1A2 C>T	7	94024680	94024680	C	T	COL1A2	c.70+267C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94024680C>T	(Likely) benign	1 lab	1987aedbec
1:5947337 NPHP4 G>T	1	5947337	5947337	G	T	NPHP4	c.2485+9C>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5947337G>T	(Likely) benign	1 lab	198b47856b
3:38768526 SCN10A G>A	3	38768526	38768526	G	A	SCN10A	c.2658C>T	NM_006514.4	NP_006505.4:p.(Ile886=)	NC_000003.11:g.38768526G>A	(Likely) benign	1 lab	198bba7bbf
21:47190145 MISSING A>Alt too long to show for this DUP	21	47190145	47987300	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.47190146_47987300dup	VUS	1 lab	198ceb74e5
10:54032143 PRKG1 A>G	10	54032143	54032143	A	G	PRKG1	c.1269-9A>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54032143A>G	(Likely) benign	1 lab	1993c155de
7:40118353 CDK13 A>G	7	40118353	40118353	A	G	CDK13	c.2932A>G	NM_003718.5	NP_003709.3:p.(Met978Val)	NC_000007.13:g.40118353A>G	(Likely) pathogenic	1 lab	199f873751
6:135817844 MISSING A>Alt too long to show for this DUP	6	135817844	135897055	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.135817846_135897055dup	VUS	1 lab	19a09aa618
1:236900597 ACTN2 G>GTATATATATATATATATATATATATA	1	236900597	236900598	G	GTATATATATATATATATATATATATA	ACTN2	c.876+83_876+84insTATATATATATATATATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATATATATATATATATA	(Likely) benign	1 lab	19a32668f4
17:15134270 PMP22 G>T	17	15134270	15134270	G	T	PMP22	c.447C>A	NM_000304.4	NP_000295.1:p.(Ser149Arg)	NC_000017.10:g.15134270G>T	(Likely) pathogenic	1 lab	19a3c02249
X:23398217 PTCHD1 C>A	X	23398217	23398217	C	A	PTCHD1	c.861C>A	NM_173495.3	NP_775766.2:p.(Cys287Ter)	NC_000023.10:g.23398217C>A	(Likely) pathogenic	1 lab	19ae2777dc
22:29885996 NEFH CAAG>C	22	29885996	29885999	CAAG	C	NEFH	c.2368_2370del	NM_021076.4	NP_066554.2:p.(Lys790del)	NC_000022.10:g.29885997_29885999del	(Likely) benign	1 lab	19b0bbba46
3:52380742 DNAH1 C>CGG	3	52380742	52380744	C	CGG	DNAH1	c.1912_1913insGG	NM_015512.5	NP_056327.4:p.(Asp638GlyfsTer10)	NC_000003.11:g.52380743_52380744insGG	(Likely) pathogenic	1 lab	19bc59b663
2:1491731 TPO A>C	2	1491731	1491731	A	C	TPO	c.1736A>C	NM_001206744.2	NP_001193673.1:p.(Asn579Thr)	NC_000002.11:g.1491731A>C	VUS	1 lab	19beca9c4b
2:179642619 TTN C>T	2	179642619	179642619	C	T	TTN	c.4292G>A	NM_001267550.2	NP_001254479.2:p.(Arg1431Gln)	NC_000002.11:g.179642619C>T	VUS	1 lab	19c18c2dc7
1:26386770 TRIM63 C>T	1	26386770	26386770	C	T	TRIM63	c.584G>A	NM_032588.4	NP_115977.2:p.(Arg195His)	NC_000001.10:g.26386770C>T	VUS	1 lab	19c303c349
2:47656891 MSH2 G>T	2	47656891	47656891	G	T	MSH2	c.1087G>T	NM_000251.3	NP_000242.1:p.(Val363Leu)	NC_000002.11:g.47656891G>T	VUS	1 lab	19c42cce62
2:220284989 DES C>T	2	220284989	220284989	C	T	DES	c.656C>T	NM_001927.4	NP_001918.3:p.(Thr219Ile)	NC_000002.11:g.220284989C>T	(Likely) benign	1 lab	19cdf6f11d
1:12058920 MFN2 C>T	1	12058920	12058920	C	T	MFN2	c.693C>T	NM_014874.4	NP_055689.1:p.(Ser231=)	NC_000001.10:g.12058920C>T	(Likely) benign	1 lab	19da5e46d5
9:137711885 COL5A1 G>A	9	137711885	137711885	G	A	COL5A1	c.4447-77G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137711885G>A	(Likely) benign	1 lab	19da6cee29
19:45452269 APOC2 C>CCCT	19	45452269	45452271	C	CCCT	APOC2	c.216-146_216-145insCTC	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452270_45452271insCTC	(Likely) benign	1 lab	19dde89b9e
8:59409389 CYP7A1 A>C	8	59409389	59409389	A	C	CYP7A1	c.682T>G	NM_000780.4	NP_000771.2:p.(Phe228Val)	NC_000008.10:g.59409389A>C	VUS	1 lab	19df5f871d
15:72050268 THSD4 C>T	15	72050268	72050268	C	T	THSD4	c.2443C>T	NM_024817.2	NP_079093.2:p.(Arg815Trp)	NC_000015.9:g.72050268C>T	VUS	1 lab	19e90abdd2
X:70443750 GJB1 T>C	X	70443750	70443750	T	C	GJB1	c.193T>C	NM_000166.6	NP_000157.1:p.(Tyr65His)	NC_000023.10:g.70443750T>C	(Likely) pathogenic	1 lab	19e9f61f90
10:124249122 HTRA1 C>G	10	124249122	124249122	C	G	HTRA1	c.757C>G	NM_002775.5	NP_002766.1:p.(Leu253Val)	NC_000010.10:g.124249122C>G	VUS	1 lab	19ec1ebf1a
3:38595974 SCN5A GA>G	3	38595974	38595977	GA	G	SCN5A	c.4608del	NM_001099404.2	NP_001092874.1:p.(Leu1537Ter)	NC_000003.11:g.38595977del	(Likely) pathogenic	1 lab	19f06de7ed
8:75276369 GDAP1 C>T	8	75276369	75276369	C	T	GDAP1	c.844C>T	NM_018972.4	NP_061845.2:p.(Arg282Cys)	NC_000008.10:g.75276369C>T	(Likely) pathogenic	1 lab	19f245a325
19:40902634 PRX C>T	19	40902634	40902634	C	T	PRX	c.1625G>A	NM_181882.3	NP_870998.2:p.(Arg542Gln)	NC_000019.9:g.40902634C>T	(Likely) benign	1 lab	19f65a0655
16:15880530 MYH11 A>G	16	15880530	15880530	A	G	MYH11	c.590T>C	NM_002474.3	NP_002465.1:p.(Val197Ala)	NC_000016.9:g.15880530A>G	VUS	1 lab	19f755ef2f
22:38565418 PLA2G6 G>A	22	38565418	38565418	G	A	PLA2G6	c.16C>T	NM_001349864.2	NP_001336793.1:p.(Arg6Cys)	NC_000022.10:g.38565418G>A	VUS	1 lab	19fa25b1d8
12:100933266 NR1H4 Ref too long to show for this DEL>T	12	100933266	100944495	Ref too long to show for this DEL	T	NR1H4	c.932-1183_1078+9899del	NM_001206979.2	NP_001193908.1:p.?	NC_000012.11:g.100933267_100944495del	VUS	1 lab	19fcaf040d
7:158449483 MISSING Ref too long to show for this DEL>A	7	158449483	159119707	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.158449485_159119707del	(Likely) pathogenic	1 lab	1a0206a25d
1:74835152 TNNI3K A>G	1	74835152	74835152	A	G	TNNI3K	c.1550A>G	NM_015978.3	NP_057062.1:p.(Asn517Ser)	NC_000001.10:g.74835152A>G	(Likely) benign	1 lab	1a04d0eb02
1:55511623 PCSK9 T>TC	1	55511623	55511628	T	TC	PCSK9	c.400-568dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55511628dup	(Likely) benign	1 lab	1a0793d3bd
16:68849514 CDH1 G>A	16	68849514	68849514	G	A	CDH1	c.1417G>A	NM_004360.5	NP_004351.1:p.(Val473Ile)	NC_000016.9:g.68849514G>A	VUS	1 lab	1a0a323be2
22:50897995 SBF1 G>A	22	50897995	50897995	G	A	SBF1	c.3592C>T	NM_002972.4	NP_002963.2:p.(Arg1198Cys)	NC_000022.10:g.50897995G>A	VUS	1 lab	1a0c2fc7b3
15:34537940 SLC12A6 C>T	15	34537940	34537940	C	T	SLC12A6	c.1778G>A	NM_001365088.1	NP_001352017.1:p.(Arg593Lys)	NC_000015.9:g.34537940C>T	VUS	1 lab	1a0ce88486
5:178581675 ADAMTS2 G>A	5	178581675	178581675	G	A	ADAMTS2	c.1238+140C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178581675G>A	(Likely) benign	1 lab	1a114be1be
12:30802063 IPO8 T>C	12	30802063	30802063	T	C	IPO8	c.2268+8A>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30802063T>C	(Likely) benign	1 lab	1a11e5818a
2:21229703 APOB C>A	2	21229703	21229703	C	A	APOB	c.10037G>T	NM_000384.3	NP_000375.3:p.(Ser3346Ile)	NC_000002.11:g.21229703C>A	(Likely) benign	1 lab	1a1264b052
22:50657189 TUBGCP6 G>A	22	50657189	50657189	G	A	TUBGCP6	c.4764C>T	NM_020461.4	NP_065194.3:p.(Pro1588=)	NC_000022.10:g.50657189G>A	(Likely) benign	1 lab	1a1477f918
6:16144067 MYLIP C>T	6	16144067	16144067	C	T	MYLIP	c.800C>T	NM_013262.4	NP_037394.2:p.(Ala267Val)	NC_000006.11:g.16144067C>T	VUS	1 lab	1a1b56ca10
12:125263084 SCARB1 G>A	12	125263084	125263084	G	A	SCARB1	c.1450C>T	NM_001082959.2	NP_001076428.1:p.(Arg484Trp)	NC_000012.11:g.125263084G>A	(Likely) benign	1 lab	1a1dcb6803
X:132351847 TFDP3 G>A	X	132351847	132351847	G	A	TFDP3	c.441C>T	NM_016521.3	NP_057605.3:p.(His147=)	NC_000023.10:g.132351847G>A	(Likely) benign	1 lab	1a20675dc2
X:130410085 IGSF1 G>A	X	130410085	130410085	G	A	IGSF1	c.2761C>T	NM_001170961.2	NP_001164432.1:p.(Gln921Ter)	NC_000023.10:g.130410085G>A	(Likely) pathogenic	1 lab	1a21b353ec
4:153247366 FBXW7 C>T	4	153247366	153247366	C	T	FBXW7	c.1436G>A	NM_001349798.2	NP_001336727.1:p.(Arg479Gln)	NC_000004.11:g.153247366C>T	VUS	1 lab	1a2228ff93
16:3642768 SLX4 G>C	16	3642768	3642768	G	C	SLX4	c.2259C>G	NM_032444.4	NP_115820.2:p.(His753Gln)	NC_000016.9:g.3642768G>C	VUS	1 lab	1a2444d66c
10:16553103 PTER C>A	10	16553103	16553103	C	A	PTER	c.898C>A	NM_001001484.3	NP_001001484.1:p.(His300Asn)	NC_000010.10:g.16553103C>A	VUS	1 lab	1a24e864f2
10:64949170 JMJD1C C>T	10	64949170	64949170	C	T	JMJD1C	c.6328G>A	NM_032776.3	NP_116165.1:p.(Asp2110Asn)	NC_000010.10:g.64949170C>T	VUS	1 lab	1a2522a61b
6:32009838 TNXB C>T	6	32009838	32009838	C	T	TNXB	c.12414G>A	NM_019105.8	NP_061978.6:p.(Ser4138=)	NC_000006.11:g.32009838C>T	(Likely) benign	1 lab	1a25f032af
15:62165553 VPS13C T>C	15	62165553	62165553	T	C	VPS13C	c.10470A>G	NM_001018088.3	NP_001018098.1:p.(Ala3490=)	NC_000015.9:g.62165553T>C	(Likely) benign	1 lab	1a2b71db4f
8:134262803 NDRG1 G>A	8	134262803	134262803	G	A	NDRG1	c.595-17C>T	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134262803G>A	(Likely) benign	1 lab	1a2eea1e49
7:100855877 PLOD3 G>A	7	100855877	100855877	G	A	PLOD3	c.939C>T	NM_001084.5	NP_001075.1:p.(Arg313=)	NC_000007.13:g.100855877G>A	(Likely) benign	1 lab	1a305d03af
18:21124907 NPC1 A>ACCACC	18	21124907	21124910	A	ACCACC	NPC1	c.1947+16_1947+17insGGTGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124909_21124910insACCCC	(Likely) benign	1 lab	1a309fc755
4:185340725 IRF2 G>GAA	4	185340725	185340745	G	GAA	IRF2	c.88-5_88-4dup	NM_002199.4	NP_002190.2:p.?	NC_000004.11:g.185340744_185340745dup	(Likely) benign	1 lab	1a31353860
X:18660201 CDKL5 G>A	X	18660201	18660201	G	A	CDKL5				NC_000023.10:g.18660201G>A	(Likely) pathogenic	1 lab	fbe1ac3fd6
8:144295198 GPIHBP1 C>T	8	144295198	144295198	C	T	GPIHBP1	c.52+4C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295198C>T	(Likely) benign	1 lab	1a3c3e2a67
15:31352740 TRPM1 G>C	15	31352740	31352740	G	C	TRPM1	c.1314+7C>G	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31352740G>C	(Likely) benign	1 lab	1a3d55d9ae
10:26991037 PDSS1 A>G	10	26991037	26991037	A	G	PDSS1	c.-464-54A>G	NM_001321979.2	NP_001308908.1:p.?	NC_000010.10:g.26991037A>G	(Likely) benign	1 lab	1a3e4e7145
10:75871768 VCL C>T	10	75871768	75871768	C	T	VCL	c.2847C>T	NM_014000.3	NP_054706.1:p.(Tyr949=)	NC_000010.10:g.75871768C>T	(Likely) benign	1 lab	1a42107812
18:72343465 ZNF407 A>G	18	72343465	72343465	A	G	ZNF407	c.490A>G	NM_017757.3	NP_060227.2:p.(Arg164Gly)	NC_000018.9:g.72343465A>G	(Likely) benign	1 lab	1a47fa4a98
18:28673558 DSC2 G>T	18	28673558	28673558	G	T	DSC2	c.118C>A	NM_024422.6	NP_077740.1:p.(Pro40Thr)	NC_000018.9:g.28673558G>T	VUS	1 lab	1a4c13d322
17:7348499 CHRNB1 C>T	17	7348499	7348499	C	T	CHRNB1	c.53C>T	NM_000747.3	NP_000738.2:p.(Ala18Val)	NC_000017.10:g.7348499C>T	VUS	1 lab	1a51cb5d62
2:15629067 NBAS C>T	2	15629067	15629067	C	T	NBAS	c.1034G>A	NM_015909.4	NP_056993.2:p.(Trp345Ter)	NC_000002.11:g.15629067C>T	(Likely) pathogenic	1 lab	1a52627ec8
3:49759389 GMPPB C>T	3	49759389	49759389	C	T	GMPPB	c.960G>A	NM_013334.4	NP_037466.3:p.(Leu320=)	NC_000003.11:g.49759389C>T	(Likely) benign	1 lab	1a544e055a
17:48264872 COL1A1 A>G	17	48264872	48264872	A	G	COL1A1	c.3396T>C	NM_000088.4	NP_000079.2:p.(Ser1132=)	NC_000017.10:g.48264872A>G	(Likely) benign	1 lab	1a598da2b8
2:179431594 TTN-AS1 A>G	2	179431594	179431594	A	G	TTN-AS1	n.2044-15705A>G	NR_038272.1		NC_000002.11:g.179431594A>G	(Likely) benign	1 lab	1a59b66d89
16:21279070 CRYM G>A	16	21279070	21279070	G	A	CRYM	c.490-12C>T	NM_001888.5	NP_001879.1:p.?	NC_000016.9:g.21279070G>A	(Likely) benign	1 lab	1a5a97af75
11:534210 HRAS A>G	11	534210	534210	A	G	HRAS	c.111+2T>C	NM_176795.5	NP_789765.1:p.?	NC_000011.9:g.534210A>G	VUS	1 lab	1a5dfbb966
6:16146642 MYLIP C>T	6	16146642	16146642	C	T	MYLIP	c.1249-251C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16146642C>T	(Likely) benign	1 lab	1a5e187ec5
X:38044749 MISSING C>Alt too long to show for this DUP	X	38044749	38624559	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.38044750_38624559dup	VUS	1 lab	1a5e8efc3e
2:179575523 TTN C>A	2	179575523	179575523	C	A	TTN	c.28301G>T	NM_001267550.2	NP_001254479.2:p.(Ser9434Ile)	NC_000002.11:g.179575523C>A	VUS	1 lab	1a5f34e3a5
6:32007579 TNXB T>C	6	32007579	32007579	T	C	TNXB				NC_000006.11:g.32007579T>C	(Likely) benign	1 lab	fbe5884ae1
16:920824 LMF1 G>A	16	920824	920824	G	A	LMF1	c.738C>T	NM_001352018.2	NP_001338947.1:p.(Ser246=)	NC_000016.9:g.920824G>A	(Likely) benign	1 lab	1a603c81ca
3:857140 MISSING T>Alt too long to show for this DUP	3	857140	1429238	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.857141_1429238dup	(Likely) pathogenic	1 lab	1a6254121c
4:177650824 VEGFC G>C	4	177650824	177650824	G	C	VEGFC	c.224C>G	NM_005429.5	NP_005420.1:p.(Pro75Arg)	NC_000004.11:g.177650824G>C	(Likely) benign	1 lab	1a8e2b406f
1:236882503 ACTN2 C>G	1	236882503	236882503	C	G	ACTN2	c.361+190C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236882503C>G	(Likely) benign	1 lab	1a75ef8383
16:58001101 CNGB1 C>T	16	58001101	58001101	C	T	CNGB1	c.90G>A	NM_001297.5	NP_001288.3:p.(Glu30=)	NC_000016.9:g.58001101C>T	(Likely) benign	1 lab	1a76f98d4e
19:11221340 LDLR G>A	19	11221340	11221340	G	A	LDLR	c.953G>A	NM_000527.5	NP_000518.1:p.(Cys318Tyr)	NC_000019.9:g.11221340G>A	(Likely) pathogenic	1 lab	1a7a6ff7bd
16:81385233 GAN T>A	16	81385233	81385233	T	A	GAN	c.213T>A	NM_022041.4	NP_071324.1:p.(Tyr71Ter)	NC_000016.9:g.81385233T>A	(Likely) pathogenic	1 lab	1a80493bd0
11:116661483 APOA5 C>A	11	116661483	116661483	C	A	APOA5	c.462G>T	NM_052968.5	NP_443200.2:p.(Val154=)	NC_000011.9:g.116661483C>A	(Likely) benign	1 lab	1a80cf0bfe
8:144296946 GPIHBP1 G>A	8	144296946	144296946	G	A	GPIHBP1	c.240G>A	NM_178172.6	NP_835466.2:p.(Thr80=)	NC_000008.10:g.144296946G>A	(Likely) benign	1 lab	1a81378509
2:238462221 MLPH G>T	2	238462221	238462221	G	T	MLPH	c.1789G>T	NM_024101.7	NP_077006.1:p.(Ala597Ser)	NC_000002.11:g.238462221G>T	(Likely) benign	1 lab	1a83244814
6:31324201 HLA-B C>T	6	31324201	31324201	C	T	HLA-B	c.362G>A	NM_005514.8	NP_005505.2:p.(Ser121Asn)	NC_000006.11:g.31324201C>T	(Likely) benign	1 lab	1a8337c43c
3:195509060 MUC4 T>A	3	195509060	195509060	T	A	MUC4	c.9391A>T	NM_018406.7	NP_060876.5:p.(Thr3131Ser)	NC_000003.11:g.195509060T>A	(Likely) benign	1 lab	1a856ddf61
3:38739975 SCN10A C>T	3	38739975	38739975	C	T	SCN10A	c.4736G>A	NM_006514.4	NP_006505.4:p.(Arg1579Gln)	NC_000003.11:g.38739975C>T	(Likely) benign	1 lab	1a892b1d00
2:179498613 TTN A>G	2	179498613	179498613	A	G	TTN	c.42613T>C	NM_001267550.2	NP_001254479.2:p.(Leu14205=)	NC_000002.11:g.179498613A>G	(Likely) benign	1 lab	1a896a8d1b
8:19812076 LPL G>A	8	19812076	19812076	G	A	LPL	c.775+212G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812076G>A	(Likely) benign	1 lab	1a90f59f42
2:150433017 MMADHC C>T	2	150433017	150433017	C	T	MMADHC	c.412G>A	NM_015702.3	NP_056517.1:p.(Glu138Lys)	NC_000002.11:g.150433017C>T	(Likely) benign	1 lab	1a911e45ec
10:90707099 ACTA2 G>A	10	90707099	90707099	G	A	ACTA2	c.174C>T	NM_001141945.2	NP_001135417.1:p.(Asp58=)	NC_000010.10:g.90707099G>A	(Likely) benign	1 lab	1a91efbc21
2:179499934 TTN A>G	2	179499934	179499934	A	G	TTN	c.41982T>C	NM_001267550.2	NP_001254479.2:p.(Pro13994=)	NC_000002.11:g.179499934A>G	(Likely) benign	1 lab	1a9221dd46
19:11210921 LDLR C>T	19	11210921	11210921	C	T	LDLR	c.90C>T	NM_000527.5	NP_000518.1:p.(Asn30=)	NC_000019.9:g.11210921C>T	(Likely) benign	1 lab	1a96d54c19
15:54306012 UNC13C C>G	15	54306012	54306012	C	G	UNC13C	c.912C>G	NM_001080534.3	NP_001074003.1:p.(Asp304Glu)	NC_000015.9:g.54306012C>G	(Likely) benign	1 lab	1a9d8f381e
6:73043369 RIMS1 C>T	6	73043369	73043369	C	T	RIMS1	c.4197C>T	NM_014989.6	NP_055804.2:p.(Thr1399=)	NC_000006.11:g.73043369C>T	(Likely) benign	1 lab	1a9e238e33
5:32739143 NPR3 G>A	5	32739143	32739143	G	A	NPR3	c.1059+7G>A	NM_000908.4	NP_000899.1:p.?	NC_000005.9:g.32739143G>A	(Likely) benign	1 lab	1aa2e51c0b
3:132244637 DNAJC13 T>C	3	132244637	132244637	T	C	DNAJC13	c.6240+4T>C	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132244637T>C	(Likely) benign	1 lab	1aa64cd29c
1:45797972 MUTYH G>A	1	45797972	45797972	G	A	MUTYH	c.799C>T	NM_001128425.2	NP_001121897.1:p.(Gln267Ter)	NC_000001.10:g.45797972G>A	(Likely) pathogenic	1 lab	1aab637b5d
2:21230571 APOB T>G	2	21230571	21230571	T	G	APOB	c.9169A>C	NM_000384.3	NP_000375.3:p.(Lys3057Gln)	NC_000002.11:g.21230571T>G	VUS	1 lab	1ab0bdd859
1:55518412 PCSK9 C>A	1	55518412	55518412	C	A	PCSK9	c.747C>A	NM_174936.4	NP_777596.2:p.(Ser249Arg)	NC_000001.10:g.55518412C>A	VUS	1 lab	1abac2146f
6:79700648 PHIP C>T	6	79700648	79700648	C	T	PHIP	c.2256G>A	NM_017934.7	NP_060404.4:p.(Arg752=)	NC_000006.11:g.79700648C>T	(Likely) benign	1 lab	1abef76887
11:66283077 BBS1 T>C	11	66283077	66283077	T	C	BBS1	c.479+20T>C	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66283077T>C	(Likely) benign	1 lab	1ac38b671c
19:11216275 LDLR C>A	19	11216275	11216275	C	A	LDLR	c.693C>A	NM_000527.5	NP_000518.1:p.(Cys231Ter)	NC_000019.9:g.11216275C>A	(Likely) pathogenic	1 lab	1ac6af555f
X:153609400 EMD G>A	X	153609400	153609400	G	A	EMD	c.608G>A	NM_000117.3	NP_000108.1:p.(Arg203His)	NC_000023.10:g.153609400G>A	(Likely) benign	1 lab	1ac6d85b07
15:44943907 SPG11 C>T	15	44943907	44943907	C	T	SPG11	c.1238G>A	NM_025137.4	NP_079413.3:p.(Trp413Ter)	NC_000015.9:g.44943907C>T	VUS	1 lab	1ac7961d55
14:23871829 MYH6 A>G	14	23871829	23871829	A	G	MYH6	c.1003-18T>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23871829A>G	(Likely) benign	1 lab	1ac9184fab
12:66521939 MISSING Ref too long to show for this DEL>G	12	66521939	66605379	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.66521940_66605379del	VUS	1 lab	1acc804fef
1:55505545 PCSK9 C>T	1	55505545	55505545	C	T	PCSK9	c.35C>T	NM_174936.4	NP_777596.2:p.(Pro12Leu)	NC_000001.10:g.55505545C>T	VUS	1 lab	1acf82ad5a
19:3637510 PIP5K1C G>A	19	3637510	3637510	G	A	PIP5K1C	c.2022C>T	NM_001300849.2	NP_001287778.1:p.(Pro674=)	NC_000019.9:g.3637510G>A	(Likely) benign	1 lab	1acfea5315
12:2027501 CACNA2D4 C>T	12	2027501	2027501	C	T	CACNA2D4	c.139G>A	NM_172364.5	NP_758952.4:p.(Val47Met)	NC_000012.11:g.2027501C>T	(Likely) benign	1 lab	1ad1052eac
1:10202885 UBE4B Ref too long to show for this DEL>T	1	10202885	10236039	Ref too long to show for this DEL	T	UBE4B	c.2364-2112_3526-2663del	NM_001105562.3	NP_001099032.1:p.?	NC_000001.10:g.10202886_10236039del	VUS	1 lab	1ad53956a9
9:139391477 NOTCH1 G>A	9	139391477	139391477	G	A	NOTCH1	c.6714C>T	NM_017617.5	NP_060087.3:p.(Pro2238=)	NC_000009.11:g.139391477G>A	(Likely) benign	1 lab	1ad8cb15d1
6:135788707 AHI1 A>G	6	135788707	135788707	A	G	AHI1	c.189+12T>C	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135788707A>G	(Likely) benign	1 lab	1ae1c4de44
2:179604900 TTN CT>C	2	179604900	179604901	CT	C	TTN	c.13059del	NM_001267550.2	NP_001254479.2:p.(Asp4354ThrfsTer13)	NC_000002.11:g.179604901del	(Likely) pathogenic	1 lab	1ae6792397
19:11224209 LDLR A>AG	19	11224209	11224210	A	AG	LDLR	c.1359-1dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224210dup	(Likely) pathogenic	1 lab	1aeaa0382a
17:48273490 COL1A1 C>T	17	48273490	48273490	C	T	COL1A1	c.1002+26G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273490C>T	(Likely) benign	1 lab	1aeb638471
16:88780635 CTU2 G>GGTGT	16	88780635	88780640	G	GGTGT	CTU2	c.1097+2_1097+5dup	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88780637_88780640dup	(Likely) benign	1 lab	1aed286553
9:137716699 COL5A1 AT>A	9	137716699	137716700	AT	A	COL5A1	c.4953del	NM_000093.5	NP_000084.3:p.(Asp1651GlufsTer78)	NC_000009.11:g.137716700del	(Likely) pathogenic	1 lab	1aef32de20
2:31807858 MISSING Ref too long to show for this DEL>G	2	31807858	31816734	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.31807859_31816734del	VUS	1 lab	1af5d5772e
2:216221703 MISSING Ref too long to show for this DEL>T	2	216221703	216300363	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.216221705_216300363del	VUS	1 lab	1afa114e40
20:57480495 GNAS G>A	20	57480495	57480495	G	A	GNAS	c.2419G>A	NM_080425.4	NP_536350.2:p.(Glu807Lys)	NC_000020.10:g.57480495G>A	VUS	1 lab	1afe9c91de
11:117222650 CEP164 A>G	11	117222650	117222650	A	G	CEP164	c.339A>G	NM_014956.5	NP_055771.4:p.(Lys113=)	NC_000011.9:g.117222650A>G	(Likely) benign	1 lab	1affa04246
1:3328948 PRDM16 C>G	1	3328948	3328948	C	G	PRDM16	c.2187C>G	NM_022114.4	NP_071397.3:p.(Phe729Leu)	NC_000001.10:g.3328948C>G	(Likely) benign	1 lab	1b0104d1a9
3:119133554 ARHGAP31 G>A	3	119133554	119133554	G	A	ARHGAP31	c.2778G>A	NM_020754.4	NP_065805.2:p.(Ala926=)	NC_000003.11:g.119133554G>A	(Likely) benign	1 lab	1b01f6925f
8:22069127 BMP1 G>A	8	22069127	22069127	G	A	BMP1	c.2847G>A	NM_006129.5	NP_006120.1:p.(Ser949=)	NC_000008.10:g.22069127G>A	(Likely) benign	1 lab	1b03cee298
7:154677414 DPP6 C>T	7	154677414	154677414	C	T	DPP6	c.2205C>T	NM_130797.4	NP_570629.2:p.(Cys735=)	NC_000007.13:g.154677414C>T	(Likely) benign	1 lab	1b068e1b48
9:77206589 RORB Ref too long to show for this DEL>A	9	77206589	77241678	Ref too long to show for this DEL	A	RORB	c.8-38608_8-3520del	NM_006914.4	NP_008845.2:p.?	NC_000009.11:g.77206590_77241678del	VUS	1 lab	1b0750f5e4
1:55525154 PCSK9 C>G	1	55525154	55525154	C	G	PCSK9	c.1504-5C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525154C>G	VUS	1 lab	1b0d61816d
14:105373750 MISSING Ref too long to show for this DEL>A	14	105373750	105406845	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.105373751_105406845del	VUS	1 lab	1b12854c0f
10:124266389 HTRA1 C>T	10	124266389	124266389	C	T	HTRA1	c.960C>T	NM_002775.5	NP_002766.1:p.(Asp320=)	NC_000010.10:g.124266389C>T	(Likely) benign	1 lab	1b14e799a1
15:85411683 ALPK3 G>A	15	85411683	85411683	G	A	ALPK3	c.5114G>A	NM_020778.5	NP_065829.4:p.(Arg1705Gln)	NC_000015.9:g.85411683G>A	VUS	1 lab	1b180ad6e0
2:241128579 MISSING A>Alt too long to show for this DUP	2	241128579	241611309	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.241128580_241611309dup	VUS	1 lab	1b2123a0b9
16:57003895 CETP A>G	16	57003895	57003895	A	G	CETP	c.509A>G	NM_000078.3	NP_000069.2:p.(His170Arg)	NC_000016.9:g.57003895A>G	VUS	1 lab	1b27070052
19:47201002 PRKD2 G>A	19	47201002	47201002	G	A	PRKD2	c.1227C>T	NM_016457.5	NP_057541.2:p.(Asn409=)	NC_000019.9:g.47201002G>A	(Likely) benign	1 lab	1b2b782696
4:100532292 MTTP T>C	4	100532292	100532292	T	C	MTTP	c.1770-8T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532292T>C	(Likely) benign	1 lab	1b3104d614
11:68206105 LRP5 C>T	11	68206105	68206105	C	T	LRP5	c.4303C>T	NM_002335.4	NP_002326.2:p.(Leu1435Phe)	NC_000011.9:g.68206105C>T	VUS	1 lab	1b336cb9fe
11:68216357 LRP5 G>T	11	68216357	68216357	G	T	LRP5	c.2924G>T	NM_001291902.2	NP_001278831.1:p.(Arg975Leu)	NC_000011.9:g.68216357G>T	VUS	1 lab	1b38ff1ce4
10:102778069 PDZD7 A>T	10	102778069	102778069	A	T	PDZD7	c.1325-16T>A	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102778069A>T	(Likely) benign	1 lab	1b3af9782a
1:198791693 MISSING Ref too long to show for this DEL>G	1	198791693	203554137	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.198791698_203554137del	(Likely) pathogenic	1 lab	1b3e273372
4:74285363 ALB C>T	4	74285363	74285363	C	T	ALB	c.1785+7C>T	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74285363C>T	(Likely) benign	1 lab	1b3ef412c4
3:53814170 CACNA1D C>T	3	53814170	53814170	C	T	CACNA1D	c.4750+15C>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53814170C>T	(Likely) benign	1 lab	1b42069f07
2:149226260 MBD5 T>A	2	149226260	149226260	T	A	MBD5				NC_000002.11:g.149226260T>A	VUS	1 lab	fbe8067b4a
3:38617171 SCN5A C>T	3	38617171	38617171	C	T	SCN5A	c.3512-229G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38617171C>T	(Likely) benign	1 lab	1b45dc7d52
9:27229141 TEK T>C	9	27229141	27229141	T	C	TEK	c.3301-15T>C	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27229141T>C	(Likely) benign	1 lab	1b45e624fe
4:106395150 PPA2 A>G	4	106395150	106395150	A	G	PPA2	c.58T>C	NM_176869.3	NP_789845.1:p.(Leu20=)	NC_000004.11:g.106395150A>G	(Likely) benign	1 lab	1b4beafbb0
7:151970797 KMT2C A>T	7	151970797	151970797	A	T	KMT2C	c.1005T>A	NM_170606.3	NP_733751.2:p.(Pro335=)	NC_000007.13:g.151970797A>T	(Likely) benign	1 lab	1b4e74fa64
5:64103444 CWC27 G>A	5	64103444	64103444	G	A	CWC27	c.957G>A	NM_001297645.2	NP_001284574.1:p.(Leu319=)	NC_000005.9:g.64103444G>A	(Likely) benign	1 lab	1b4f4afb3b
8:133910040 TG G>A	8	133910040	133910040	G	A	TG	c.3139+9G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133910040G>A	(Likely) benign	1 lab	1b4fd03310
19:45452520 APOC2 C>T	19	45452520	45452520	C	T	APOC2	c.*14C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452520C>T	VUS	1 lab	1b52b2f74f
15:93521556 CHD2 C>G	15	93521556	93521556	C	G	CHD2	c.2670C>G	NM_001271.4	NP_001262.3:p.(Asn890Lys)	NC_000015.9:g.93521556C>G	(Likely) pathogenic	1 lab	1b544089aa
7:128480177 FLNC C>T	7	128480177	128480177	C	T	FLNC	c.1512C>T	NM_001458.5	NP_001449.3:p.(Ala504=)	NC_000007.13:g.128480177C>T	(Likely) benign	1 lab	1b562e011d
15:22770418 MISSING Ref too long to show for this DEL>A	15	22770418	23282905	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770421_23282905del	(Likely) pathogenic	1 lab	1b5ecb2cf7
2:97474305 CNNM4 C>T	2	97474305	97474305	C	T	CNNM4	c.1956C>T	NM_020184.4	NP_064569.3:p.(Ser652=)	NC_000002.11:g.97474305C>T	(Likely) benign	1 lab	1b65a7e5a0
14:23870084 MYH6 C>G	14	23870084	23870084	C	G	MYH6	c.1244G>C	NM_002471.4	NP_002462.2:p.(Gly415Ala)	NC_000014.8:g.23870084C>G	VUS	1 lab	1b65b1d0e6
2:179616479 TTN G>A	2	179616479	179616479	G	A	TTN	c.10648C>T	NM_133379.5	NP_596870.2:p.(Arg3550Trp)	NC_000002.11:g.179616479G>A	(Likely) benign	1 lab	1b678e9e2a
2:179583556 TTN C>T	2	179583556	179583556	C	T	TTN	c.24371G>A	NM_001267550.2	NP_001254479.2:p.(Cys8124Tyr)	NC_000002.11:g.179583556C>T	VUS	1 lab	1b6a88f1d0
7:44149603 AEBP1 C>T	7	44149603	44149603	C	T	AEBP1	c.1151-11C>T	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44149603C>T	(Likely) benign	1 lab	1b6f1134e5
16:920731 LMF1 T>G	16	920731	920731	T	G	LMF1	c.831A>C	NM_001352018.2	NP_001338947.1:p.(Gly277=)	NC_000016.9:g.920731T>G	(Likely) benign	1 lab	1b6f52dc61
20:42743434 JPH2 G>A	20	42743434	42743434	G	A	JPH2	c.*2C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42743434G>A	(Likely) benign	1 lab	1b6f879576
7:138596011 KIAA1549 G>A	7	138596011	138596011	G	A	KIAA1549	c.3026C>T	NM_001164665.2	NP_001158137.1:p.(Thr1009Met)	NC_000007.13:g.138596011G>A	(Likely) benign	1 lab	1b769c761e
6:56417357 DST C>G	6	56417357	56417357	C	G	DST	c.9876G>C	NM_001144769.5	NP_001138241.1:p.(Val3292=)	NC_000006.11:g.56417357C>G	(Likely) benign	1 lab	1b76fa6603
18:25589671 CDH2 G>C	18	25589671	25589671	G	C	CDH2	c.702+10C>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25589671G>C	(Likely) benign	1 lab	1b7d7c2431
16:23647555 PALB2 A>G	16	23647555	23647555	A	G	PALB2	c.312T>C	NM_024675.4	NP_078951.2:p.(Pro104=)	NC_000016.9:g.23647555A>G	(Likely) benign	1 lab	1b7f8aad33
10:90701615 ACTA2 C>G	10	90701615	90701615	C	G	ACTA2	c.381G>C	NM_001141945.2	NP_001135417.1:p.(Glu127Asp)	NC_000010.10:g.90701615C>G	VUS	1 lab	1b80609668
3:38798491 SCN10A G>A	3	38798491	38798491	G	A	SCN10A	c.1092+18C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38798491G>A	(Likely) benign	1 lab	1b819ccd31
18:10691357 PIEZO2 G>A	18	10691357	10691357	G	A	PIEZO2	c.6876C>T	NM_022068.4	NP_071351.2:p.(Ala2292=)	NC_000018.9:g.10691357G>A	(Likely) benign	1 lab	1b83c16902
2:179457964 TTN T>G	2	179457964	179457964	T	G	TTN	c.58971A>C	NM_001267550.2	NP_001254479.2:p.(Glu19657Asp)	NC_000002.11:g.179457964T>G	VUS	1 lab	1b88adad83
16:16221990 MISSING C>Alt too long to show for this DUP	16	16221990	16309165	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.16221991_16309165dup	VUS	1 lab	1b8d14309b
9:133748399 ABL1 C>A	9	133748399	133748399	C	A	ABL1	c.1117C>A	NM_007313.2	NP_009297.2:p.(Leu373Met)	NC_000009.11:g.133748399C>A	VUS	1 lab	1b9340f9ec
6:75823351 COL12A1 CTCTG>C	6	75823351	75823360	CTCTG	C	COL12A1	c.7803_7806del	NM_004370.6	NP_004361.3:p.(Asp2601GlufsTer9)	NC_000006.11:g.75823357_75823360del	(Likely) pathogenic	1 lab	1b9f400629
10:73199674 CDH23 G>A	10	73199674	73199674	G	A	CDH23	c.67+19G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73199674G>A	(Likely) benign	1 lab	1b9f6b9c40
8:87656899 CNGB3 C>T	8	87656899	87656899	C	T	CNGB3	c.1006G>A	NM_019098.5	NP_061971.3:p.(Glu336Lys)	NC_000008.10:g.87656899C>T	VUS	1 lab	1b9fbac133
2:215645330 BARD1 T>C	2	215645330	215645330	T	C	BARD1	c.1268A>G	NM_000465.4	NP_000456.2:p.(Lys423Arg)	NC_000002.11:g.215645330T>C	VUS	1 lab	1ba2e3fc50
2:44079869 ABCG8 A>T	2	44079869	44079869	A	T	ABCG8	c.826A>T	NM_022437.3	NP_071882.1:p.(Ile276Phe)	NC_000002.11:g.44079869A>T	VUS	1 lab	1ba3cd0a86
2:172325498 DCAF17 G>A	2	172325498	172325498	G	A	DCAF17	c.939G>A	NM_025000.4	NP_079276.2:p.(Gln313=)	NC_000002.11:g.172325498G>A	(Likely) benign	1 lab	1ba40cf871
12:50501860 GPD1 C>T	12	50501860	50501860	C	T	GPD1	c.900C>T	NM_005276.4	NP_005267.2:p.(Pro300=)	NC_000012.11:g.50501860C>T	(Likely) benign	1 lab	1ba56788d5
18:73966016 MISSING T>Alt too long to show for this DUP	18	73966016	74327631	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.73966017_74327631dup	VUS	1 lab	1ba8b65693
1:236917589 ACTN2 C>T	1	236917589	236917589	C	T	ACTN2	c.1974+208C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236917589C>T	(Likely) benign	1 lab	1baa18970a
9:137658291 COL5A1 C>T	9	137658291	137658291	C	T	COL5A1	c.2089-9C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658291C>T	(Likely) benign	1 lab	1badd9a52d
9:130041552 MISSING T>Alt too long to show for this DUP	9	130041552	130317448	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.130041553_130317448dup	VUS	1 lab	1bae006341
17:56290379 MKS1 C>T	17	56290379	56290379	C	T	MKS1	c.822G>A	NM_017777.4	NP_060247.2:p.(Pro274=)	NC_000017.10:g.56290379C>T	(Likely) benign	1 lab	1bb14792a1
16:67644949 CTCF C>T	16	67644949	67644949	C	T	CTCF	c.214C>T	NM_006565.4	NP_006556.1:p.(Gln72Ter)	NC_000016.9:g.67644949C>T	(Likely) pathogenic	1 lab	1bb14ca0ed
3:14200021 XPC A>G	3	14200021	14200021	A	G	XPC	c.1362T>C	NM_004628.5	NP_004619.3:p.(Asp454=)	NC_000003.11:g.14200021A>G	(Likely) benign	1 lab	1bba25df91
22:25179303 MISSING T>Alt too long to show for this DUP	22	25179303	25930479	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.25179304_25930479dup	VUS	1 lab	1bbbce2f78
20:60894813 LAMA5 G>A	20	60894813	60894813	G	A	LAMA5	c.6798C>T	NM_005560.6	NP_005551.3:p.(Ala2266=)	NC_000020.10:g.60894813G>A	(Likely) benign	1 lab	1bc2318e36
2:99012736 CNGA3 A>G	2	99012736	99012736	A	G	CNGA3	c.1103A>G	NM_001298.3	NP_001289.1:p.(Glu368Gly)	NC_000002.11:g.99012736A>G	VUS	1 lab	1bc6c6266a
17:4446525 MISSING G>Alt too long to show for this DUP	17	4446525	4489625	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.4446527_4489625dup	VUS	1 lab	1bc73dfa1b
12:125298733 SCARB1 C>T	12	125298733	125298733	C	T	SCARB1	c.630+15G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125298733C>T	(Likely) benign	1 lab	1bc8bcc0c2
6:75620403 MISSING A>Alt too long to show for this DUP	6	75620403	75851116	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.75620404_75851116dup	VUS	1 lab	1bd065a7d3
8:19805676 LPL AT>A	8	19805676	19805681	AT	A	LPL	c.89-10del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805681del	(Likely) benign	1 lab	1bd2bccd16
1:1649931 MISSING Ref too long to show for this DEL>T	1	1649931	1675061	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.1649932_1675061del	(Likely) benign	1 lab	1bd5bf9e0d
1:117158857 IGSF3 C>T	1	117158857	117158857	C	T	IGSF3	c.266G>A	NM_001007237.3	NP_001007238.1:p.(Arg89His)	NC_000001.10:g.117158857C>T	(Likely) benign	1 lab	1bd6032036
X:118603872 SLC25A5 T>C	X	118603872	118603872	T	C	SLC25A5	c.360T>C	NM_001152.5	NP_001143.2:p.(Gly120=)	NC_000023.10:g.118603872T>C	(Likely) benign	1 lab	1be6369c1a
4:114257955 ANK2 G>A	4	114257955	114257955	G	A	ANK2	c.3796+18G>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114257955G>A	(Likely) benign	1 lab	1be66ca13f
19:55316353 KIR2DL4 C>G	19	55316353	55316353	C	G	KIR2DL4	c.182C>G	NM_001080772.2	NP_001074241.1:p.(Thr61Arg)	NC_000019.9:g.55316353C>G	(Likely) benign	1 lab	1be85b5acc
1:215853510 USH2A C>T	1	215853510	215853510	C	T	USH2A	c.12275G>A	NM_206933.4	NP_996816.3:p.(Arg4092Lys)	NC_000001.10:g.215853510C>T	VUS	1 lab	1be8e20b19
3:38602093 SCN5A G>A	3	38602093	38602093	G	A	SCN5A	c.3964-174C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38602093G>A	(Likely) benign	1 lab	1beb39ba65
12:2558300 CACNA1C T>C	12	2558300	2558300	T	C	CACNA1C	c.617+19T>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2558300T>C	(Likely) benign	1 lab	1befbae8ad
19:11211019 LDLR G>A	19	11211019	11211019	G	A	LDLR	c.188G>A	NM_000527.5	NP_000518.1:p.(Cys63Tyr)	NC_000019.9:g.11211019G>A	(Likely) pathogenic	1 lab	1bf93fee58
2:44047070 ABCG5 C>G	2	44047070	44047070	C	G	ABCG5	c.1633G>C	NM_022436.3	NP_071881.1:p.(Gly545Arg)	NC_000002.11:g.44047070C>G	VUS	1 lab	1bf953045f
2:44040359 ABCG5 A>G	2	44040359	44040359	A	G	ABCG5	c.1852T>C	NM_022436.3	NP_071881.1:p.(Ser618Pro)	NC_000002.11:g.44040359A>G	VUS	1 lab	1bfc51a48f
5:10256159 CCT5 C>T	5	10256159	10256159	C	T	CCT5	c.259C>T	NM_001306154.2	NP_001293083.1:p.(Arg87Cys)	NC_000005.9:g.10256159C>T	VUS	1 lab	1c010fa59d
8:10469028 RP1L1 C>G	8	10469028	10469028	C	G	RP1L1	c.2580G>C	NM_178857.6	NP_849188.4:p.(Arg860=)	NC_000008.10:g.10469028C>G	(Likely) benign	1 lab	1c04c88093
5:180030313 FLT4 C>A	5	180030313	180030313	C	A	FLT4	c.3971G>T	NM_182925.5	NP_891555.2:p.(Arg1324Leu)	NC_000005.9:g.180030313C>A	(Likely) benign	1 lab	1c06c1bdeb
18:77475468 CTDP1 C>T	18	77475468	77475468	C	T	CTDP1	c.2008C>T	NM_004715.5	NP_004706.3:p.(Arg670Trp)	NC_000018.9:g.77475468C>T	VUS	1 lab	1c0b26775c
11:119158631 CBL A>G	11	119158631	119158631	A	G	CBL	c.2011A>G	NM_005188.4	NP_005179.2:p.(Asn671Asp)	NC_000011.9:g.119158631A>G	VUS	1 lab	1c14787827
17:40481639 STAT3 G>A	17	40481639	40481639	G	A	STAT3	c.1166C>T	NM_139276.3	NP_644805.1:p.(Thr389Ile)	NC_000017.10:g.40481639G>A	(Likely) pathogenic	1 lab	1c16974d99
12:48390334 COL2A1 T>C	12	48390334	48390334	T	C	COL2A1	c.606A>G	NM_001844.5	NP_001835.3:p.(Pro202=)	NC_000012.11:g.48390334T>C	(Likely) benign	1 lab	1c1b513482
4:100137322 ADH6 A>T	4	100137322	100137322	A	T	ADH6	c.116T>A	NM_001102470.2	NP_001095940.1:p.(Ile39Lys)	NC_000004.11:g.100137322A>T	(Likely) benign	1 lab	1c2b5182f8
5:138260996 CTNNA1 C>T	5	138260996	138260996	C	T	CTNNA1	c.1799C>T	NM_001903.5	NP_001894.2:p.(Ser600Leu)	NC_000005.9:g.138260996C>T	VUS	1 lab	1c2ba9b6c5
8:10468965 RP1L1 G>A	8	10468965	10468965	G	A	RP1L1	c.2643C>T	NM_178857.6	NP_849188.4:p.(Ala881=)	NC_000008.10:g.10468965G>A	(Likely) benign	1 lab	1c2e2281be
1:1374834 VWA1 A>G	1	1374834	1374834	A	G	VWA1	c.1005A>G	NM_022834.5	NP_073745.2:p.(Pro335=)	NC_000001.10:g.1374834A>G	(Likely) benign	1 lab	1c2eb7ecfd
2:179459374 TTN C>T	2	179459374	179459374	C	T	TTN	c.57848-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179459374C>T	VUS	1 lab	1c38c16693
3:69038217 EOGT A>G	3	69038217	69038217	A	G	EOGT	c.832-49T>C	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69038217A>G	(Likely) benign	1 lab	1c393ff5c6
20:62067102 MISSING A>Alt too long to show for this DUP	20	62067102	62476761	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.62067103_62476761dup	VUS	1 lab	1c3974127f
15:37358737 MEIS2 T>C	15	37358737	37358737	T	C	MEIS2	c.754+17235A>G	NM_170677.5	NP_733777.1:p.?	NC_000015.9:g.37358737T>C	(Likely) benign	1 lab	1c399654d1
5:13902160 DNAH5 A>G	5	13902160	13902160	A	G	DNAH5	c.1730+2T>C	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13902160A>G	(Likely) pathogenic	1 lab	1c3a5e98bb
15:83501874 HOMER2 Ref too long to show for this DEL>T	15	83501874	83578975	Ref too long to show for this DEL	T	HOMER2				NC_000015.9:g.83501876_83578975del	VUS	1 lab	1c3fc87333
6:16145356 MYLIP G>A	6	16145356	16145356	G	A	MYLIP	c.1056G>A	NM_013262.4	NP_037394.2:p.(Lys352=)	NC_000006.11:g.16145356G>A	VUS	1 lab	1c41ee561d
8:134128911 TG C>T	8	134128911	134128911	C	T	TG	c.7813C>T	NM_003235.5	NP_003226.4:p.(Arg2605Ter)	NC_000008.10:g.134128911C>T	(Likely) pathogenic	1 lab	1c43268061
9:137696962 COL5A1 G>T	9	137696962	137696962	G	T	COL5A1	c.3205-45G>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137696962G>T	(Likely) benign	1 lab	1c481caa28
11:119170402 CBL T>A	11	119170402	119170402	T	A	CBL	c.2632T>A	NM_005188.4	NP_005179.2:p.(Leu878Met)	NC_000011.9:g.119170402T>A	VUS	1 lab	1c4bda166e
4:2986047 GRK4 Ref too long to show for this DEL>G	4	2986047	3025531	Ref too long to show for this DEL	G	GRK4	c.53-191_970+1353del	NM_182982.3	NP_892027.2:p.?	NC_000004.11:g.2986049_3025531del	VUS	1 lab	1c4cb517e8
7:154587772 DPP6 C>G	7	154587772	154587772	C	G	DPP6	c.1286C>G	NM_001364501.2	NP_001351430.1:p.(Pro429Arg)	NC_000007.13:g.154587772C>G	(Likely) benign	1 lab	1c4d4e9f53
11:55406430 OR4P4 T>C	11	55406430	55406430	T	C	OR4P4	c.597T>C	NM_001004124.2	NP_001004124.1:p.(Ala199=)	NC_000011.9:g.55406430T>C	(Likely) benign	1 lab	1c4f72ebd6
10:114254759 VTI1A Ref too long to show for this DEL>T	10	114254759	114544872	Ref too long to show for this DEL	T	VTI1A	c.264+30345_561-30177del	NM_145206.4	NP_660207.2:p.?	NC_000010.10:g.114254761_114544872del	VUS	1 lab	1c59b8d345
2:179426722 TTN A>G	2	179426722	179426722	A	G	TTN	c.84137T>C	NM_001267550.2	NP_001254479.2:p.(Val28046Ala)	NC_000002.11:g.179426722A>G	VUS	1 lab	1c5c500dd0
2:189854414 COL3A1 A>G	2	189854414	189854414	A	G	COL3A1	c.690+239A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189854414A>G	(Likely) benign	1 lab	1c5e48fb1f
19:17985314 SLC5A5 C>T	19	17985314	17985314	C	T	SLC5A5	c.435C>T	NM_000453.3	NP_000444.1:p.(Thr145=)	NC_000019.9:g.17985314C>T	(Likely) benign	1 lab	1c611677f4
1:78408443 NEXN A>G	1	78408443	78408443	A	G	NEXN	c.1957A>G	NM_144573.4	NP_653174.3:p.(Met653Val)	NC_000001.10:g.78408443A>G	VUS	1 lab	1c6268880e
14:23858602 MYH6 C>T	14	23858602	23858602	C	T	MYH6	c.3978G>A	NM_002471.4	NP_002462.2:p.(Lys1326=)	NC_000014.8:g.23858602C>T	(Likely) benign	1 lab	1c64cf7a2e
3:189689723 P3H2 G>A	3	189689723	189689723	G	A	P3H2	c.1773C>T	NM_018192.4	NP_060662.2:p.(Asn591=)	NC_000003.11:g.189689723G>A	(Likely) benign	1 lab	1c65dc36fb
3:14199940 XPC C>A	3	14199940	14199940	C	A	XPC	c.1443G>T	NM_004628.5	NP_004619.3:p.(Lys481Asn)	NC_000003.11:g.14199940C>A	(Likely) benign	1 lab	1c6c272076
18:34267125 FHOD3 C>T	18	34267125	34267125	C	T	FHOD3	c.1480C>T	NM_025135.5	NP_079411.2:p.(Gln494Ter)	NC_000018.9:g.34267125C>T	VUS	1 lab	1c6eeaff89
11:46321572 CREB3L1 G>A	11	46321572	46321572	G	A	CREB3L1	c.189G>A	NM_052854.4	NP_443086.1:p.(Val63=)	NC_000011.9:g.46321572G>A	(Likely) benign	1 lab	1c74280448
4:8869969 HMX1 TCCGCTGCCTC>T	4	8869969	8869986	TCCGCTGCCTC	T	HMX1	c.487_496del	NM_018942.3	NP_061815.2:p.(Glu163SerfsTer59)	NC_000004.11:g.8869977_8869986del	(Likely) pathogenic	1 lab	1c7f1c9bf9
9:34635598 SIGMAR1 T>C	9	34635598	34635598	T	C	SIGMAR1	n.680A>G	NR_104108.2		NC_000009.11:g.34635598T>C	(Likely) benign	1 lab	1c83a811d6
15:45444133 DUOX1 T>C	15	45444133	45444133	T	C	DUOX1	c.3076T>C	NM_017434.5	NP_059130.2:p.(Cys1026Arg)	NC_000015.9:g.45444133T>C	(Likely) benign	1 lab	1c8fe3e16b
2:179574539 TTN C>T	2	179574539	179574539	C	T	TTN	c.24775G>A	NM_133378.4	NP_596869.4:p.(Val8259Ile)	NC_000002.11:g.179574539C>T	(Likely) benign	1 lab	1c93d7cabc
19:10102676 COL5A3 A>G	19	10102676	10102676	A	G	COL5A3	c.1893+4T>C	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10102676A>G	(Likely) benign	1 lab	1d0db64ef6
2:48698482 PPP1R21 A>G	2	48698482	48698482	A	G	PPP1R21	c.1064A>G	NM_001135629.3	NP_001129101.1:p.(Lys355Arg)	NC_000002.11:g.48698482A>G	VUS	1 lab	1c955d062a
5:127609548 FBN2 G>A	5	127609548	127609548	G	A	FBN2	c.7824C>T	NM_001999.4	NP_001990.2:p.(Thr2608=)	NC_000005.9:g.127609548G>A	(Likely) benign	1 lab	1c9946ad36
1:25870173 LDLRAP1 G>T	1	25870173	25870173	G	T	LDLRAP1	c.-17G>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870173G>T	(Likely) benign	1 lab	1c9b4671a9
12:32976726 PKP2 G>A	12	32976726	32976726	G	A	PKP2	c.1806+253C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32976726G>A	(Likely) benign	1 lab	1c9e346684
12:116549320 MED13L GA>G	12	116549320	116549330	GA	G	MED13L	c.311-4del	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116549330del	(Likely) benign	1 lab	1ca71fa8a4
16:56996930 CETP G>A	16	56996930	56996930	G	A	CETP	c.127G>A	NM_000078.3	NP_000069.2:p.(Glu43Lys)	NC_000016.9:g.56996930G>A	VUS	1 lab	1ca91bae8f
9:100437777 XPA T>C	9	100437777	100437777	T	C	XPA	c.766A>G	NM_000380.4	NP_000371.1:p.(Met256Val)	NC_000009.11:g.100437777T>C	(Likely) benign	1 lab	1cab6ee5a9
3:49701953 BSN C>T	3	49701953	49701953	C	T	BSN	c.11706C>T	NM_003458.4	NP_003449.2:p.(Gly3902=)	NC_000003.11:g.49701953C>T	(Likely) benign	1 lab	1caeaeab92
1:216424228 USH2A T>C	1	216424228	216424228	T	C	USH2A	c.2167+17A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216424228T>C	(Likely) benign	1 lab	1cb38d061b
15:58853140 LIPC C>T	15	58853140	58853140	C	T	LIPC	c.1129C>T	NM_000236.3	NP_000227.2:p.(Leu377Phe)	NC_000015.9:g.58853140C>T	(Likely) benign	1 lab	1cb89797b3
13:31722620 HSPH1 TAAA>T	13	31722620	31722637	TAAA	T	HSPH1	c.1138-6_1138-4del	NM_006644.4	NP_006635.2:p.?	NC_000013.10:g.31722635_31722637del	(Likely) benign	1 lab	1cb8d45b76
10:61973257 ANK3 T>G	10	61973257	61973257	T	G	ANK3	c.909A>C	NM_020987.5	NP_066267.2:p.(Thr303=)	NC_000010.10:g.61973257T>G	(Likely) benign	1 lab	1cb95d0d50
6:117113762 GPRC6A T>TA	6	117113762	117113763	T	TA	GPRC6A	c.2323dup	NM_148963.4	NP_683766.2:p.(Tyr775LeufsTer2)	NC_000006.11:g.117113763dup	(Likely) benign	1 lab	1cbcf4c620
2:238427215 MLPH G>A	2	238427215	238427215	G	A	MLPH	c.479G>A	NM_024101.7	NP_077006.1:p.(Gly160Glu)	NC_000002.11:g.238427215G>A	(Likely) benign	1 lab	1cbed6680d
9:107595024 ABCA1 T>G	9	107595024	107595024	T	G	ABCA1	c.1340A>C	NM_005502.4	NP_005493.2:p.(His447Pro)	NC_000009.11:g.107595024T>G	VUS	1 lab	1cce857ae7
3:9784939 BRPF1 T>C	3	9784939	9784939	T	C	BRPF1	c.2311+2T>C	NM_001003694.2	NP_001003694.1:p.?	NC_000003.11:g.9784939T>C	(Likely) pathogenic	1 lab	1cd3f48c07
6:16130333 MYLIP A>G	6	16130333	16130333	A	G	MYLIP	c.88-455A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16130333A>G	(Likely) benign	1 lab	1cd5a0dbc5
9:137623050 COL5A1 G>A	9	137623050	137623050	G	A	COL5A1	c.1165-292G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623050G>A	(Likely) benign	1 lab	1cd7c06de1
9:137709645 COL5A1 C>T	9	137709645	137709645	C	T	COL5A1	c.4198C>T	NM_000093.5	NP_000084.3:p.(Pro1400Ser)	NC_000009.11:g.137709645C>T	VUS	1 lab	1cdc4d8994
19:11217288 LDLR T>G	19	11217288	11217288	T	G	LDLR	c.742T>G	NM_000527.5	NP_000518.1:p.(Cys248Gly)	NC_000019.9:g.11217288T>G	(Likely) pathogenic	1 lab	1cddb561ed
15:72767214 ARIH1 T>TGGCGGC	15	72767214	72767237	T	TGGCGGC	ARIH1	c.252_257dup	NM_005744.5	NP_005735.2:p.(Gly89_Gly90dup)	NC_000015.9:g.72767232_72767237dup	(Likely) benign	1 lab	1cddf9b643
12:20885931 SLCO1C1 A>G	12	20885931	20885931	A	G	SLCO1C1	c.1275A>G	NM_001145946.2	NP_001139418.1:p.(Ala425=)	NC_000012.11:g.20885931A>G	(Likely) benign	1 lab	1cde318155
8:62593592 ASPH T>C	8	62593592	62593592	T	C	ASPH	c.215A>G	NM_020164.5	NP_064549.1:p.(Lys72Arg)	NC_000008.10:g.62593592T>C	VUS	1 lab	1ce17a6c8c
16:70303659 AARS1 C>T	16	70303659	70303659	C	T	AARS1	c.824G>A	NM_001605.3	NP_001596.2:p.(Gly275Asp)	NC_000016.9:g.70303659C>T	(Likely) benign	1 lab	1ce3ab9aea
11:108811538 MISSING C>Alt too long to show for this DUP	11	108811538	108980717	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.108811540_108980717dup	VUS	1 lab	1ce4e22084
4:338201 ZNF141 ATC>A	4	338201	338203	ATC	A	ZNF141	c.209_210del	NM_003441.4	NP_003432.1:p.(Ile70SerfsTer34)	NC_000004.11:g.338202_338203del	(Likely) benign	1 lab	1ce519ba0e
15:62253791 VPS13C T>C	15	62253791	62253791	T	C	VPS13C	c.3905A>G	NM_001018088.3	NP_001018098.1:p.(Tyr1302Cys)	NC_000015.9:g.62253791T>C	(Likely) benign	1 lab	1ce91caf6b
12:125294817 SCARB1 C>A	12	125294817	125294817	C	A	SCARB1	c.745G>T	NM_001367981.1	NP_001354910.1:p.(Asp249Tyr)	NC_000012.11:g.125294817C>A	VUS	1 lab	1cee8bed90
2:179458211 TTN A>G	2	179458211	179458211	A	G	TTN	c.58733-9T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458211A>G	(Likely) benign	1 lab	1ceef8ecc7
10:92679980 ANKRD1 G>A	10	92679980	92679980	G	A	ANKRD1	c.153C>T	NM_014391.3	NP_055206.2:p.(His51=)	NC_000010.10:g.92679980G>A	(Likely) benign	1 lab	1cef89c710
2:179440860 TTN A>G	2	179440860	179440860	A	G	TTN	c.69999T>C	NM_001267550.2	NP_001254479.2:p.(Val23333=)	NC_000002.11:g.179440860A>G	(Likely) benign	1 lab	1cf1571f69
2:21239667 APOB T>C	2	21239667	21239667	T	C	APOB	c.3122-146A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239667T>C	(Likely) benign	1 lab	1cf6c0797b
22:31328929 MORC2 C>G	22	31328929	31328929	C	G	MORC2	c.2283G>C	NM_014941.3	NP_055756.1:p.(Arg761=)	NC_000022.10:g.31328929C>G	(Likely) benign	1 lab	1cfa2a501e
5:149433770 CSF1R C>T	5	149433770	149433770	C	T	CSF1R	c.2781G>A	NM_005211.4	NP_005202.2:p.(Pro927=)	NC_000005.9:g.149433770C>T	(Likely) benign	1 lab	1cffd1d01a
8:118812044 EXT1 C>T	8	118812044	118812044	C	T	EXT1	c.2148G>A	NM_000127.3	NP_000118.2:p.(Pro716=)	NC_000008.10:g.118812044C>T	(Likely) benign	1 lab	1d04d210f1
9:113312231 SVEP1 G>C	9	113312231	113312231	G	C	SVEP1	c.685C>G	NM_153366.4	NP_699197.3:p.(Arg229Gly)	NC_000009.11:g.113312231G>C	(Likely) benign	1 lab	1d073da0b5
9:80855189 CEP78 C>T	9	80855189	80855189	C	T	CEP78	c.427-19C>T	NM_001349839.2	NP_001336768.1:p.?	NC_000009.11:g.80855189C>T	(Likely) benign	1 lab	1d08251df2
22:50902775 SBF1 T>C	22	50902775	50902775	T	C	SBF1	c.1732A>G	NM_002972.4	NP_002963.2:p.(Met578Val)	NC_000022.10:g.50902775T>C	VUS	1 lab	1d09e5745e
3:53338527 MISSING T>Alt too long to show for this DUP	3	53338527	53399113	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.53338528_53399113dup	VUS	1 lab	1d142c766c
9:33386399 AQP7 C>T	9	33386399	33386399	C	T	AQP7	c.406+3G>A	NM_001170.3	NP_001161.1:p.?	NC_000009.11:g.33386399C>T	(Likely) benign	1 lab	1d14b0c722
1:74808645 TNNI3K A>T	1	74808645	74808645	A	T	TNNI3K	c.802A>T	NM_015978.3	NP_057062.1:p.(Ile268Phe)	NC_000001.10:g.74808645A>T	VUS	1 lab	1d1c84867d
6:32497982 HLA-DRB5 G>GCCAGGCAGCCTGAGGCACACCATGCT	6	32497982	32497983	G	GCCAGGCAGCCTGAGGCACACCATGCT	HLA-DRB5	c.19_20insAGCATGGTGTGCCTCAGGCTGCCTGG	NM_002125.4	NP_002116.2:p.(Pro7GlnfsTer18)	NC_000006.11:g.32497982_32497983insCCAGGCAGCCTGAGGCACACCATGCT	(Likely) benign	1 lab	1d1e1327e3
3:53839188 CACNA1D T>C	3	53839188	53839188	T	C	CACNA1D	c.5809+15T>C	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53839188T>C	(Likely) benign	1 lab	1d23e7950c
12:2714877 CACNA1C G>A	12	2714877	2714877	G	A	CACNA1C	c.3141G>A	NM_199460.4	NP_955630.3:p.(Arg1047=)	NC_000012.11:g.2714877G>A	(Likely) benign	1 lab	1d28ca91dc
2:21235490 APOB G>A	2	21235490	21235490	G	A	APOB	c.4250C>T	NM_000384.3	NP_000375.3:p.(Thr1417Met)	NC_000002.11:g.21235490G>A	VUS	1 lab	1d295a1bc1
15:65370323 KBTBD13 G>A	15	65370323	65370323	G	A	KBTBD13	c.1170G>A	NM_001101362.3	NP_001094832.1:p.(Lys390=)	NC_000015.9:g.65370323G>A	(Likely) benign	1 lab	1d2d977b63
9:111678477 ELP1 G>A	9	111678477	111678477	G	A	ELP1	c.958+7C>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111678477G>A	(Likely) benign	1 lab	1d33421348
15:23890673 MAGEL2 C>T	15	23890673	23890673	C	T	MAGEL2	c.2217G>A	NM_019066.5	NP_061939.3:p.(Ser739=)	NC_000015.9:g.23890673C>T	(Likely) benign	1 lab	1d363dacc4
16:919384 LMF1 C>T	16	919384	919384	C	T	LMF1	c.1018-328G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919384C>T	(Likely) benign	1 lab	1d36e2d8fa
1:12057372 MFN2 C>G	1	12057372	12057372	C	G	MFN2	c.493C>G	NM_014874.4	NP_055689.1:p.(His165Asp)	NC_000001.10:g.12057372C>G	(Likely) pathogenic	1 lab	1d3bc0670a
3:49698115 BSN G>A	3	49698115	49698115	G	A	BSN	c.8837G>A	NM_003458.4	NP_003449.2:p.(Arg2946Gln)	NC_000003.11:g.49698115G>A	(Likely) benign	1 lab	1d484c0b01
11:116662297 APOA5 C>G	11	116662297	116662297	C	G	APOA5	c.161+5G>C	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662297C>G	(Likely) pathogenic	1 lab	1d4a7cc4fc
19:55317590 KIR2DL4 C>T	19	55317590	55317590	C	T	KIR2DL4	c.546C>T	NM_001080772.2	NP_001074241.1:p.(Phe182=)	NC_000019.9:g.55317590C>T	(Likely) benign	1 lab	1d4dc617f1
17:26879511 UNC119 C>A	17	26879511	26879511	C	A	UNC119	c.65G>T	NM_054035.2	NP_473376.1:p.(Gly22Val)	NC_000017.10:g.26879511C>A	(Likely) benign	1 lab	1d531b8bb7
10:69881660 MYPN C>G	10	69881660	69881660	C	G	MYPN	c.465C>G	NM_032578.4	NP_115967.2:p.(Ala155=)	NC_000010.10:g.69881660C>G	(Likely) benign	1 lab	1d540c578e
6:80838881 BCKDHB TATTTGGTGAAG>T	6	80838881	80838894	TATTTGGTGAAG	T	BCKDHB	c.281_291del	NM_183050.4	NP_898871.1:p.(Phe94CysfsTer8)	NC_000006.11:g.80838884_80838894del	(Likely) pathogenic	1 lab	1d56daa66a
1:160210179 DCAF8 G>T	1	160210179	160210179	G	T	DCAF8	c.50-19C>A	NM_015726.4	NP_056541.2:p.?	NC_000001.10:g.160210179G>T	(Likely) benign	1 lab	1d57710492
10:88466336 LDB3 G>C	10	88466336	88466336	G	C	LDB3	c.945G>C	NM_007078.3	NP_009009.1:p.(Pro315=)	NC_000010.10:g.88466336G>C	(Likely) benign	1 lab	1d577b1da6
2:29446201 ALK C>T	2	29446201	29446201	C	T	ALK	c.3359+7G>A	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29446201C>T	(Likely) benign	1 lab	1d590d7c3b
6:137325901 IL20RA TAA>T	6	137325901	137325916	TAA	T	IL20RA	c.725-6_725-5del	NM_014432.3	NP_055247.3:p.?	NC_000006.11:g.137325915_137325916del	(Likely) benign	1 lab	1d59ca1159
2:21232865 APOB A>G	2	21232865	21232865	A	G	APOB	c.6875T>C	NM_000384.3	NP_000375.3:p.(Ile2292Thr)	NC_000002.11:g.21232865A>G	VUS	1 lab	1d5b1d70ed
11:44148512 EXT2 A>T	11	44148512	44148512	A	T	EXT2	c.1178+7A>T	NM_000401.3	NP_000392.3:p.?	NC_000011.9:g.44148512A>T	(Likely) benign	1 lab	1d5d26a526
12:111767172 MISSING Ref too long to show for this DEL>C	12	111767172	111845900	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.111767173_111845900del	VUS	1 lab	1d5e6014cb
6:80631531 ELOVL4 G>A	6	80631531	80631531	G	A	ELOVL4	c.370-18C>T	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80631531G>A	(Likely) benign	1 lab	1d5e905ba5
8:19797079 LPL G>A	8	19797079	19797079	G	A	LPL	c.88+40G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797079G>A	(Likely) benign	1 lab	1d5eb72452
11:65318956 LTBP3 C>T	11	65318956	65318956	C	T	LTBP3	c.1549-11G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318956C>T	(Likely) benign	1 lab	1d6087e1ee
1:215914883 USH2A G>GA	1	215914883	215914895	G	GA	USH2A	c.11549-5dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215914895dup	(Likely) benign	1 lab	1d634a8e93
2:179656876 TTN C>T	2	179656876	179656876	C	T	TTN	c.1585G>A	NM_001267550.2	NP_001254479.2:p.(Ala529Thr)	NC_000002.11:g.179656876C>T	VUS	1 lab	1d63ca4b0f
7:138589823 KIAA1549 G>A	7	138589823	138589823	G	A	KIAA1549	c.3465C>T	NM_020910.3	NP_065961.2:p.(Phe1155=)	NC_000007.13:g.138589823G>A	(Likely) benign	1 lab	1d76546122
10:112359544 SMC3 AATG>A	10	112359544	112359551	AATG	A	SMC3	c.2406_2408del	NM_005445.4	NP_005436.1:p.(Asp802del)	NC_000010.10:g.112359549_112359551del	(Likely) pathogenic	1 lab	1d7a2eb49c
11:116701356 APOC3 A>G	11	116701356	116701356	A	G	APOC3	c.55+3A>G	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701356A>G	VUS	1 lab	1d7bc39187
12:32949068 PKP2 T>C	12	32949068	32949068	T	C	PKP2	c.2464A>G	NM_004572.4	NP_004563.2:p.(Ile822Val)	NC_000012.11:g.32949068T>C	VUS	1 lab	1d805e4797
21:47545369 COL6A2 A>AC	21	47545369	47545376	A	AC	COL6A2	c.1817-3dup	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47545376dup	(Likely) benign	1 lab	1d81d00c19
2:110886778 NPHP1 C>G	2	110886778	110886778	C	G	NPHP1	c.1869G>C	NM_000272.5	NP_000263.2:p.(Val623=)	NC_000002.11:g.110886778C>G	(Likely) benign	1 lab	1d84482bca
2:179497721 TTN G>A	2	179497721	179497721	G	A	TTN	c.43137C>T	NM_001267550.2	NP_001254479.2:p.(Asn14379=)	NC_000002.11:g.179497721G>A	(Likely) benign	1 lab	1d85990df4
5:79950727 MSH3 G>C	5	79950727	79950727	G	C	MSH3	c.181G>C	NM_002439.5	NP_002430.3:p.(Ala61Pro)	NC_000005.9:g.79950727G>C	(Likely) benign	1 lab	1d8b8bf332
20:20601266 RALGAPA2 Ref too long to show for this DEL>C	20	20601266	20634212	Ref too long to show for this DEL	C	RALGAPA2	c.290_1241del	NM_020343.4	NP_065076.2:p.(Pro97ArgfsTer7)	NC_000020.10:g.20601267_20634212del	VUS	1 lab	1d8f7dc7bc
11:47369421 MYBPC3 C>T	11	47369421	47369421	C	T	MYBPC3	c.808G>A	NM_000256.3	NP_000247.2:p.(Ala270Thr)	NC_000011.9:g.47369421C>T	VUS	1 lab	1d9152f35c
15:58855850 LIPC G>A	15	58855850	58855850	G	A	LIPC	c.1316G>A	NM_000236.3	NP_000227.2:p.(Trp439Ter)	NC_000015.9:g.58855850G>A	VUS	1 lab	1d92d09ad1
9:79908419 VPS13A A>G	9	79908419	79908419	A	G	VPS13A	c.3502A>G	NM_033305.3	NP_150648.2:p.(Ile1168Val)	NC_000009.11:g.79908419A>G	(Likely) benign	1 lab	1d9359c324
9:113251951 SVEP1 T>C	9	113251951	113251951	T	C	SVEP1	c.1909A>G	NM_153366.4	NP_699197.3:p.(Ile637Val)	NC_000009.11:g.113251951T>C	(Likely) benign	1 lab	1da34c4ee9
5:127782377 FBN2 T>C	5	127782377	127782377	T	C	FBN2	c.827-78A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782377T>C	(Likely) benign	1 lab	1da3510e57
12:21547799 MISSING T>Alt too long to show for this DUP	12	21547799	21699294	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.21547800_21699294dup	VUS	1 lab	1da565451a
16:904715 LMF1 G>A	16	904715	904715	G	A	LMF1	c.1530-9C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.904715G>A	(Likely) benign	1 lab	1da818678b
16:920566 LMF1 C>T	16	920566	920566	C	T	LMF1	c.833+163G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920566C>T	VUS	1 lab	1dabdf0594
19:49671945 TRPM4 C>T	19	49671945	49671945	C	T	TRPM4	c.748C>T	NM_017636.4	NP_060106.2:p.(Arg250Cys)	NC_000019.9:g.49671945C>T	(Likely) benign	1 lab	1dacbcd498
3:100455433 TFG T>G	3	100455433	100455433	T	G	TFG	c.594T>G	NM_006070.6	NP_006061.2:p.(Ala198=)	NC_000003.11:g.100455433T>G	(Likely) benign	1 lab	1daf966aac
1:55224317 PARS2 G>A	1	55224317	55224317	G	A	PARS2	c.518C>T	NM_152268.4	NP_689481.2:p.(Ser173Phe)	NC_000001.10:g.55224317G>A	(Likely) pathogenic	1 lab	1db015d22d
12:123738333 MTRFR G>A	12	123738333	123738333	G	A	MTRFR	c.112G>A	NM_001194995.1	NP_001181924.1:p.(Val38Ile)	NC_000012.11:g.123738333G>A	(Likely) benign	1 lab	1db155d644
12:124413959 DNAH10 G>A	12	124413959	124413959	G	A	DNAH10	c.12090G>A	NM_207437.3	NP_997320.2:p.(Val4030=)	NC_000012.11:g.124413959G>A	(Likely) benign	1 lab	1db658bbe1
X:69497391 ARR3 C>G	X	69497391	69497391	C	G	ARR3	c.609+12C>G	NM_004312.3	NP_004303.2:p.?	NC_000023.10:g.69497391C>G	(Likely) benign	1 lab	1dba1afc7f
X:16205482 MISSING A>Alt too long to show for this DUP	X	16205482	16833105	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.16205483_16833105dup	VUS	1 lab	211376b829
1:94544895 ABCA4 G>A	1	94544895	94544895	G	A	ABCA4	c.1222C>T	NM_000350.3	NP_000341.2:p.(Arg408Ter)	NC_000001.10:g.94544895G>A	(Likely) pathogenic	1 lab	1dbab6e894
X:41481819 CASK Ref too long to show for this DEL>A	X	41481819	41624438	Ref too long to show for this DEL	A	CASK	c.279-19583_1033+50del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41481821_41624438del	(Likely) pathogenic	1 lab	1dbad08354
19:34291398 KCTD15 TCA>T	19	34291398	34291407	TCA	T	KCTD15	c.47_48del	NM_024076.3	NP_076981.2:p.(His16ArgfsTer63)	NC_000019.9:g.34291406_34291407del	VUS	1 lab	1dc27153b8
2:44050016 ABCG5 C>T	2	44050016	44050016	C	T	ABCG5	c.1383G>A	NM_022436.3	NP_071881.1:p.(Trp461Ter)	NC_000002.11:g.44050016C>T	(Likely) pathogenic	1 lab	1dc746956f
20:13029764 SPTLC3 A>C	20	13029764	13029764	A	C	SPTLC3	c.289A>C	NM_018327.4	NP_060797.2:p.(Arg97=)	NC_000020.10:g.13029764A>C	(Likely) benign	1 lab	1dca1541b7
2:179516829 TTN G>C	2	179516829	179516829	G	C	TTN	c.39289C>G	NM_001267550.2	NP_001254479.2:p.(Pro13097Ala)	NC_000002.11:g.179516829G>C	VUS	1 lab	1dd1dac8a1
2:24929985 NCOA1 A>G	2	24929985	24929985	A	G	NCOA1	c.1646A>G	NM_001362950.1	NP_001349879.1:p.(Asn549Ser)	NC_000002.11:g.24929985A>G	(Likely) benign	1 lab	1dd2c05996
9:32986030 APTX T>TAAAAAAAAACAAAAAAAA	9	32986030	32986040	T	TAAAAAAAAACAAAAAAAA	APTX	c.484-3_484-2insTTTTTTTTGTTTTTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAAAAAAAAAAAAAA	(Likely) benign	1 lab	1dd696594a
8:59404142 CYP7A1 A>G	8	59404142	59404142	A	G	CYP7A1	c.1407T>C	NM_000780.4	NP_000771.2:p.(Leu469=)	NC_000008.10:g.59404142A>G	(Likely) benign	1 lab	1ddc99012d
1:74797140 FPGT-TNNI3K G>C	1	74797140	74797140	G	C	FPGT-TNNI3K	c.754G>C	NM_001112808.3	NP_001106279.3:p.(Asp252His)	NC_000001.10:g.74797140G>C	(Likely) benign	1 lab	1ddde997b5
6:56707836 DST G>A	6	56707836	56707836	G	A	DST	c.625+8359C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56707836G>A	(Likely) benign	1 lab	1dde2de6ca
2:178705087 PDE11A G>T	2	178705087	178705087	G	T	PDE11A				NC_000002.11:g.178705087G>T	VUS	1 lab	fcdbe006be
12:30783830 IPO8 G>A	12	30783830	30783830	G	A	IPO8	c.3078C>T	NM_006390.4	NP_006381.2:p.(Ser1026=)	NC_000012.11:g.30783830G>A	(Likely) benign	1 lab	1de12a121a
7:100679192 MUC17 G>A	7	100679192	100679192	G	A	MUC17	c.4495G>A	NM_001040105.2	NP_001035194.1:p.(Ala1499Thr)	NC_000007.13:g.100679192G>A	(Likely) benign	1 lab	1de17c92b5
14:102898363 TECPR2 C>T	14	102898363	102898363	C	T	TECPR2	c.1315C>T	NM_014844.5	NP_055659.2:p.(Pro439Ser)	NC_000014.8:g.102898363C>T	(Likely) benign	1 lab	1de6b4765f
14:105246565 AKT1 C>T	14	105246565	105246565	C	T	AKT1	c.47-12G>A	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105246565C>T	(Likely) benign	1 lab	1de8001986
6:7558740 DSP CTTTTTTTTTTTTTTTT>C	6	7558740	7558765	CTTTTTTTTTTTTTTTT	C	DSP	c.422+253_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558750_7558765del	(Likely) benign	1 lab	1de84db024
5:90020914 ADGRV1 A>G	5	90020914	90020914	A	G	ADGRV1	c.9918A>G	NM_032119.4	NP_115495.3:p.(Ile3306Met)	NC_000005.9:g.90020914A>G	VUS	1 lab	1dec0fd6ef
2:179654748 TTN C>T	2	179654748	179654748	C	T	TTN	c.1895G>A	NM_001267550.2	NP_001254479.2:p.(Gly632Asp)	NC_000002.11:g.179654748C>T	VUS	1 lab	1ded1a1d02
22:40662429 TNRC6B G>A	22	40662429	40662429	G	A	TNRC6B	c.2195G>A	NM_001162501.2	NP_001155973.1:p.(Trp732Ter)	NC_000022.10:g.40662429G>A	(Likely) pathogenic	1 lab	1defbfa32e
X:53573494 HUWE1 C>CAGT	X	53573494	53573501	C	CAGT	HUWE1	c.10815_10817dup	NM_031407.7	NP_113584.3:p.(Leu3606dup)	NC_000023.10:g.53573499_53573501dup	VUS	1 lab	1df1ac2a03
12:22001081 ABCC9 T>C	12	22001081	22001081	T	C	ABCC9	c.2866+3A>G	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22001081T>C	(Likely) benign	1 lab	1df3812ea7
9:70918189 FOXD4L3 A>T	9	70918189	70918189	A	T	FOXD4L3	c.322A>T	NM_199135.4	NP_954586.4:p.(Lys108Ter)	NC_000009.11:g.70918189A>T	(Likely) benign	1 lab	1df3c4dccd
14:23896534 MYH7 A>G	14	23896534	23896534	A	G	MYH7	c.1889-18T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23896534A>G	(Likely) benign	1 lab	1df558028c
6:152749372 SYNE1 C>T	6	152749372	152749372	C	T	SYNE1	c.4944G>A	NM_182961.4	NP_892006.3:p.(Thr1648=)	NC_000006.11:g.152749372C>T	(Likely) benign	1 lab	1df8b8fce4
4:39226605 WDR19 C>A	4	39226605	39226605	C	A	WDR19	c.1581C>A	NM_025132.4	NP_079408.3:p.(Thr527=)	NC_000004.11:g.39226605C>A	(Likely) benign	1 lab	1e016d5a8f
19:8182345 FBN3 C>T	19	8182345	8182345	C	T	FBN3	c.3463+3G>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8182345C>T	(Likely) benign	1 lab	1e054e5079
11:18235226 MISSING T>Alt too long to show for this DUP	11	18235226	18662945	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.18235228_18662945dup	VUS	1 lab	1e059573d3
19:11227590 LDLR C>G	19	11227590	11227590	C	G	LDLR	c.1761C>G	NM_000527.5	NP_000518.1:p.(Ser587Arg)	NC_000019.9:g.11227590C>G	(Likely) benign	1 lab	1e0d30b4d9
16:1004935 LMF1 C>T	16	1004935	1004935	C	T	LMF1	c.-361-269G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004935C>T	(Likely) benign	1 lab	1e11a8de83
16:89759807 CDK10 G>A	16	89759807	89759807	G	A	CDK10	c.540G>A	NM_052988.5	NP_443714.3:p.(Ala180=)	NC_000016.9:g.89759807G>A	VUS	1 lab	1e12d664f4
2:179500409 TTN C>T	2	179500409	179500409	C	T	TTN	c.41642G>A	NM_001267550.2	NP_001254479.2:p.(Arg13881Gln)	NC_000002.11:g.179500409C>T	VUS	1 lab	1e131a69ac
2:25096116 MISSING A>Alt too long to show for this DUP	2	25096116	25182679	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.25096117_25182679dup	VUS	1 lab	1e1533505e
7:128480517 FLNC C>T	7	128480517	128480517	C	T	FLNC	c.1550-85C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480517C>T	(Likely) benign	1 lab	1e160db7f2
X:46739101 RP2 T>A	X	46739101	46739101	T	A	RP2	c.970-20T>A	NM_006915.3	NP_008846.2:p.?	NC_000023.10:g.46739101T>A	(Likely) benign	1 lab	1e1d9dc233
18:47108007 LIPG G>A	18	47108007	47108007	G	A	LIPG	c.1016G>A	NM_006033.4	NP_006024.1:p.(Arg339Gln)	NC_000018.9:g.47108007G>A	VUS	1 lab	1e213230bd
2:21231658 APOB C>G	2	21231658	21231658	C	G	APOB	c.8082G>C	NM_000384.3	NP_000375.3:p.(Arg2694Ser)	NC_000002.11:g.21231658C>G	VUS	1 lab	1e2361c674
9:137717636 COL5A1 A>G	9	137717636	137717636	A	G	COL5A1	c.4955-2A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137717636A>G	(Likely) pathogenic	1 lab	1e23843204
8:19816910 LPL C>T	8	19816910	19816910	C	T	LPL	c.1139+19C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816910C>T	(Likely) benign	1 lab	1e26defb46
10:73466676 CDH23 G>A	10	73466676	73466676	G	A	CDH23	c.2976G>A	NM_022124.6	NP_071407.4:p.(Thr992=)	NC_000010.10:g.73466676G>A	(Likely) benign	1 lab	1e30d364a3
9:107563880 ABCA1 C>T	9	107563880	107563880	C	T	ABCA1	c.4698+455G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563880C>T	(Likely) benign	1 lab	1e31303e9b
16:16251531 ABCC6 C>T	16	16251531	16251531	C	T	ABCC6	c.3871G>A	NM_001171.6	NP_001162.5:p.(Ala1291Thr)	NC_000016.9:g.16251531C>T	(Likely) benign	1 lab	1e38ea4d14
6:7558740 DSP CTTTT>C	6	7558740	7558765	CTTTT	C	DSP	c.422+265_422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558762_7558765del	(Likely) benign	1 lab	1e39f101b7
12:125348216 SCARB1 C>G	12	125348216	125348216	C	G	SCARB1	c.51G>C	NM_001367981.1	NP_001354910.1:p.(Ala17=)	NC_000012.11:g.125348216C>G	(Likely) benign	1 lab	1e3a54b427
X:130415292 IGSF1 C>T	X	130415292	130415292	C	T	IGSF1	c.1546G>A	NM_001170961.2	NP_001164432.1:p.(Val516Ile)	NC_000023.10:g.130415292C>T	(Likely) benign	1 lab	1e3dad8af5
17:17697970 RAI1 G>C	17	17697970	17697970	G	C	RAI1	c.1708G>C	NM_030665.4	NP_109590.3:p.(Asp570His)	NC_000017.10:g.17697970G>C	VUS	1 lab	1e437da72c
2:179455339 TTN T>A	2	179455339	179455339	T	A	TTN	c.61113A>T	NM_001267550.2	NP_001254479.2:p.(Pro20371=)	NC_000002.11:g.179455339T>A	(Likely) benign	1 lab	1e462d5510
2:73826660 ALMS1 A>C	2	73826660	73826660	A	C	ALMS1	c.11671+12A>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73826660A>C	(Likely) benign	1 lab	1e4664b844
12:124325977 DNAH10 T>G	12	124325977	124325977	T	G	DNAH10	c.4891T>G	NM_207437.3	NP_997320.2:p.(Leu1631Val)	NC_000012.11:g.124325977T>G	(Likely) benign	1 lab	1e46d6811e
2:179451933 TTN C>T	2	179451933	179451933	C	T	TTN	c.64005G>A	NM_001267550.2	NP_001254479.2:p.(Glu21335=)	NC_000002.11:g.179451933C>T	(Likely) benign	1 lab	1e477a3c8c
22:22989602 GGTLC2 C>T	22	22989602	22989602	C	T	GGTLC2	c.454C>T	NM_001282879.1	NP_001269808.1:p.(Pro152Ser)	NC_000022.10:g.22989602C>T	(Likely) benign	1 lab	1e58aa53da
7:122208370 CADPS2 Ref too long to show for this DEL>T	7	122208370	122212883	Ref too long to show for this DEL	T	CADPS2	c.1335+8351_1335+12862del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122208372_122212883del	VUS	1 lab	1e64f50902
15:85406826 ALPK3 T>C	15	85406826	85406826	T	C	ALPK3	c.4454T>C	NM_020778.5	NP_065829.4:p.(Phe1485Ser)	NC_000015.9:g.85406826T>C	VUS	1 lab	1e6758c157
8:59404248 CYP7A1 T>A	8	59404248	59404248	T	A	CYP7A1	c.1301A>T	NM_000780.4	NP_000771.2:p.(Tyr434Phe)	NC_000008.10:g.59404248T>A	(Likely) pathogenic	1 lab	1e694b6b50
1:55518036 PCSK9 C>T	1	55518036	55518036	C	T	PCSK9	c.609C>T	NM_174936.4	NP_777596.2:p.(Thr203=)	NC_000001.10:g.55518036C>T	(Likely) benign	1 lab	1e6997814a
21:47545812 COL6A2 G>A	21	47545812	47545812	G	A	COL6A2	c.2083G>A	NM_058175.3	NP_478055.2:p.(Glu695Lys)	NC_000021.8:g.47545812G>A	VUS	1 lab	1e6a0cc551
19:11240187 LDLR A>G	19	11240187	11240187	A	G	LDLR	c.2390-2A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240187A>G	(Likely) pathogenic	1 lab	1e6a5e5706
2:44071719 ABCG8 C>A	2	44071719	44071719	C	A	ABCG8	c.137C>A	NM_022437.3	NP_071882.1:p.(Thr46Asn)	NC_000002.11:g.44071719C>A	VUS	1 lab	1e6d1bff79
11:116707809 APOA1 C>T	11	116707809	116707809	C	T	APOA1	c.108G>A	NM_001318017.2	NP_001304946.1:p.(Lys36=)	NC_000011.9:g.116707809C>T	(Likely) benign	1 lab	1e6dabe82d
9:137686885 COL5A1 G>A	9	137686885	137686885	G	A	COL5A1	c.2701-43G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137686885G>A	(Likely) benign	1 lab	1e6e32dee2
9:67968720 ANKRD20A1 T>C	9	67968720	67968720	T	C	ANKRD20A1	c.2279T>C	NM_032250.5	NP_115626.2:p.(Ile760Thr)	NC_000009.11:g.67968720T>C	(Likely) benign	1 lab	1e6e911340
16:29458692 MISSING Ref too long to show for this DEL>A	16	29458692	30265945	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29458697_30265945del	(Likely) pathogenic	1 lab	1e6eff10ad
1:214557815 PTPN14 G>A	1	214557815	214557815	G	A	PTPN14	c.1383C>T	NM_005401.5	NP_005392.2:p.(Ser461=)	NC_000001.10:g.214557815G>A	(Likely) benign	1 lab	1e7603ee86
12:122252793 SETD1B G>C	12	122252793	122252793	G	C	SETD1B	c.2672G>C	NM_001353345.2	NP_001340274.1:p.(Arg891Pro)	NC_000012.11:g.122252793G>C	(Likely) benign	1 lab	1e7684fbae
1:55521656 PCSK9 T>C	1	55521656	55521656	T	C	PCSK9	c.800-10T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521656T>C	VUS	1 lab	1e775706e2
6:7581414 DSP T>G	6	7581414	7581414	T	G	DSP	c.4991T>G	NM_004415.4	NP_004406.2:p.(Leu1664Arg)	NC_000006.11:g.7581414T>G	VUS	1 lab	1e7a370f28
12:33003611 PKP2 G>A	12	33003611	33003611	G	A	PKP2	c.1378+89C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003611G>A	(Likely) benign	1 lab	1e7a5e53af
9:26978170 IFT74 A>G	9	26978170	26978170	A	G	IFT74	c.165A>G	NM_001099222.3	NP_001092692.1:p.(Ile55Met)	NC_000009.11:g.26978170A>G	(Likely) benign	1 lab	1e7dc07cab
X:73749100 SLC16A2 G>A	X	73749100	73749100	G	A	SLC16A2	c.1223G>A	NM_006517.5	NP_006508.2:p.(Arg408Gln)	NC_000023.10:g.73749100G>A	(Likely) benign	1 lab	1e822866e3
2:179444792 TTN AC>A	2	179444792	179444793	AC	A	TTN	c.67221del	NM_001267550.2	NP_001254479.2:p.(Glu22407AspfsTer9)	NC_000002.11:g.179444793del	(Likely) pathogenic	1 lab	1e82fa3ec3
2:21233755 APOB G>A	2	21233755	21233755	G	A	APOB	c.5985C>T	NM_000384.3	NP_000375.3:p.(Asp1995=)	NC_000002.11:g.21233755G>A	(Likely) benign	1 lab	1e87cd81f2
1:38171244 CDCA8 A>G	1	38171244	38171244	A	G	CDCA8	c.711+5A>G	NM_001256875.2	NP_001243804.1:p.?	NC_000001.10:g.38171244A>G	(Likely) benign	1 lab	1e8ca3101d
8:22054433 BMP1 CT>C	8	22054433	22054434	CT	C	BMP1	c.1926+81del	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22054434del	(Likely) benign	1 lab	1e8efe84f3
1:185985076 HMCN1 A>G	1	185985076	185985076	A	G	HMCN1	c.4910-14A>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185985076A>G	(Likely) benign	1 lab	1e8fc4a613
12:50500140 GPD1 A>G	12	50500140	50500140	A	G	GPD1	c.430A>G	NM_005276.4	NP_005267.2:p.(Met144Val)	NC_000012.11:g.50500140A>G	VUS	1 lab	1e98ad501d
2:21229409 APOB A>C	2	21229409	21229409	A	C	APOB	c.10331T>G	NM_000384.3	NP_000375.3:p.(Leu3444Arg)	NC_000002.11:g.21229409A>C	(Likely) pathogenic	1 lab	1e9c598f9e
10:3813130 MISSING Ref too long to show for this DEL>C	10	3813130	3834395	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.3813131_3834395del	VUS	1 lab	1ea3813ae1
11:76796018 CAPN5 A>C	11	76796018	76796018	A	C	CAPN5	c.86A>C	NM_004055.5	NP_004046.2:p.(Asp29Ala)	NC_000011.9:g.76796018A>C	(Likely) benign	1 lab	1ea3838e55
11:47368405 MYBPC3 T>C	11	47368405	47368405	T	C	MYBPC3	c.908+173A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368405T>C	(Likely) benign	1 lab	1ea61bb438
4:25125738 SEPSECS C>T	4	25125738	25125738	C	T	SEPSECS	c.1321G>A	NM_016955.4	NP_058651.3:p.(Gly441Arg)	NC_000004.11:g.25125738C>T	(Likely) pathogenic	1 lab	1ea75c85b5
2:47538742 MISSING Ref too long to show for this DEL>G	2	47538742	47575682	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.47538745_47575682del	VUS	1 lab	1ea92cddb1
3:46899855 MYL3 C>T	3	46899855	46899855	C	T	MYL3	c.559+19G>A	NM_000258.3	NP_000249.1:p.?	NC_000003.11:g.46899855C>T	(Likely) benign	1 lab	1eabe699d6
12:88479893 CEP290 C>T	12	88479893	88479893	C	T	CEP290	c.4360G>A	NM_025114.4	NP_079390.3:p.(Glu1454Lys)	NC_000012.11:g.88479893C>T	VUS	1 lab	1ead5023eb
16:88783414 PIEZO1 G>A	16	88783414	88783414	G	A	PIEZO1	c.6660+17C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88783414G>A	(Likely) benign	1 lab	1eaf3bee99
X:135290604 FHL1 C>T	X	135290604	135290604	C	T	FHL1	c.502-10C>T	NM_001159704.1	NP_001153176.1:p.?	NC_000023.10:g.135290604C>T	(Likely) benign	1 lab	1eb19c8dc6
16:920890 LMF1 G>A	16	920890	920890	G	A	LMF1	c.680-8C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920890G>A	(Likely) benign	1 lab	1eb3f2ae2b
X:153216366 HCFC1 G>A	X	153216366	153216366	G	A	HCFC1	c.5601C>T	NM_005334.3	NP_005325.2:p.(Ala1867=)	NC_000023.10:g.153216366G>A	(Likely) benign	1 lab	1eb594f560
10:68979554 CTNNA3 C>A	10	68979554	68979554	C	A	CTNNA3	c.654G>T	NM_013266.4	NP_037398.2:p.(Leu218Phe)	NC_000010.10:g.68979554C>A	VUS	1 lab	1ebc399f9c
1:6500879 ESPN G>T	1	6500879	6500879	G	T	ESPN	c.858+11G>T	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6500879G>T	(Likely) benign	1 lab	1fa8476ef6
12:56115065 RDH5 A>G	12	56115065	56115065	A	G	RDH5	c.97A>G	NM_001199771.3	NP_001186700.1:p.(Ile33Val)	NC_000012.11:g.56115065A>G	(Likely) benign	1 lab	1ebf85cd6f
16:3831284 CREBBP C>T	16	3831284	3831284	C	T	CREBBP	c.1597G>A	NM_004380.3	NP_004371.2:p.(Ala533Thr)	NC_000016.9:g.3831284C>T	(Likely) benign	1 lab	1ebfb44169
17:48273665 COL1A1 G>T	17	48273665	48273665	G	T	COL1A1	c.957+10C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273665G>T	(Likely) benign	1 lab	1ec17b08fd
20:62046387 KCNQ2 C>T	20	62046387	62046387	C	T	KCNQ2	c.1394G>A	NM_172107.4	NP_742105.1:p.(Arg465Gln)	NC_000020.10:g.62046387C>T	VUS	1 lab	1ec52a370a
1:197298090 CRB1 TGAAATAGGAA>T	1	197298090	197298102	TGAAATAGGAA	T	CRB1	c.405_414del	NM_001257965.2	NP_001244894.1:p.(Glu135AspfsTer13)	NC_000001.10:g.197298093_197298102del	(Likely) pathogenic	1 lab	1ec8bb49aa
X:51644681 MAGED1 A>T	X	51644681	51644681	A	T	MAGED1	c.2160A>T	NM_001005333.2	NP_001005333.1:p.(Ala720=)	NC_000023.10:g.51644681A>T	(Likely) benign	1 lab	1ecd69bf5e
4:103528463 NFKB1 G>T	4	103528463	103528463	G	T	NFKB1	c.2111G>T	NM_003998.4	NP_003989.2:p.(Cys704Phe)	NC_000004.11:g.103528463G>T	VUS	1 lab	1ed303ad0b
6:99282949 POU3F2 ACGG>A	6	99282949	99282964	ACGG	A	POU3F2	c.213_215del	NM_005604.4	NP_005595.2:p.(Gly88del)	NC_000006.11:g.99282962_99282964del	(Likely) benign	1 lab	1ed6638a51
4:22389814 ADGRA3 A>G	4	22389814	22389814	A	G	ADGRA3	c.3480T>C	NM_145290.4	NP_660333.2:p.(Val1160=)	NC_000004.11:g.22389814A>G	(Likely) benign	1 lab	1ed8df144b
8:19796784 LPL T>TTCC	8	19796784	19796795	T	TTCC	LPL	c.-159_-157dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796793_19796795dup	VUS	1 lab	1eda8e6d46
4:120085354 MYOZ2 A>G	4	120085354	120085354	A	G	MYOZ2	c.377-12A>G	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120085354A>G	(Likely) benign	1 lab	1edf8c1d1a
22:21053693 MISSING C>Alt too long to show for this DUP	22	21053693	21505559	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21053695_21505559dup	VUS	1 lab	1fa964a2c5
3:132166148 DNAJC13 AT>A	3	132166148	132166161	AT	A	DNAJC13	c.145-4del	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132166161del	(Likely) benign	1 lab	1eef592c86
3:38592678 SCN5A C>A	3	38592678	38592678	C	A	SCN5A	c.5185G>T	NM_198056.3	NP_932173.1:p.(Asp1729Tyr)	NC_000003.11:g.38592678C>A	VUS	1 lab	1eef85bafc
16:30990544 SETD1A G>C	16	30990544	30990544	G	C	SETD1A	c.3437G>C	NM_014712.3	NP_055527.1:p.(Arg1146Pro)	NC_000016.9:g.30990544G>C	(Likely) benign	1 lab	1ef2d9c6c4
4:6302398 WFS1 C>G	4	6302398	6302398	C	G	WFS1	c.876C>G	NM_006005.3	NP_005996.2:p.(Pro292=)	NC_000004.11:g.6302398C>G	(Likely) benign	1 lab	1ef50a56a0
12:57910204 MARS1 C>T	12	57910204	57910204	C	T	MARS1	c.2557-14C>T	NM_004990.4	NP_004981.2:p.?	NC_000012.11:g.57910204C>T	(Likely) benign	1 lab	1ef7d0a975
3:49690684 BSN C>T	3	49690684	49690684	C	T	BSN	c.3695C>T	NM_003458.4	NP_003449.2:p.(Thr1232Ile)	NC_000003.11:g.49690684C>T	(Likely) benign	1 lab	1efb39e324
16:905031 LMF1 A>G	16	905031	905031	A	G	LMF1	c.1131-325T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.905031A>G	(Likely) benign	1 lab	1eff70d1c5
1:75005916 TNNI3K A>G	1	75005916	75005916	A	G	TNNI3K	c.2352-2A>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.75005916A>G	VUS	1 lab	1f02f923be
2:44073403 ABCG8 G>A	2	44073403	44073403	G	A	ABCG8	c.275G>A	NM_022437.3	NP_071882.1:p.(Ser92Asn)	NC_000002.11:g.44073403G>A	VUS	1 lab	1f04086785
17:48266071 COL1A1 A>C	17	48266071	48266071	A	C	COL1A1	c.3099+32T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266071A>C	(Likely) benign	1 lab	1f06063286
7:94047263 COL1A2 A>G	7	94047263	94047263	A	G	COL1A2	c.1971+120A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94047263A>G	(Likely) benign	1 lab	1f0f5005f6
2:21229075 APOB T>A	2	21229075	21229075	T	A	APOB	c.10665A>T	NM_000384.3	NP_000375.3:p.(Thr3555=)	NC_000002.11:g.21229075T>A	(Likely) benign	1 lab	1f151ea523
20:8626829 PLCB1 G>A	20	8626829	8626829	G	A	PLCB1	c.464+1G>A	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8626829G>A	(Likely) pathogenic	1 lab	23b97d2bc6
19:40368495 FCGBP A>G	19	40368495	40368495	A	G	FCGBP	c.12853T>C	NM_003890.2	NP_003881.2:p.(Ser4285Pro)	NC_000019.9:g.40368495A>G	(Likely) benign	1 lab	1f198f3810
17:1580914 PRPF8 G>A	17	1580914	1580914	G	A	PRPF8	c.1929C>T	NM_006445.4	NP_006436.3:p.(Gly643=)	NC_000017.10:g.1580914G>A	(Likely) benign	1 lab	1f1b2eff21
2:179429918 TTN G>A	2	179429918	179429918	G	A	TTN	c.80941C>T	NM_001267550.2	NP_001254479.2:p.(Arg26981Trp)	NC_000002.11:g.179429918G>A	VUS	1 lab	1f2260629b
1:98091051 DPYD Ref too long to show for this DEL>T	1	98091051	98132413	Ref too long to show for this DEL	T	DPYD	c.850+12238_851-30330del	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.98091052_98132413del	VUS	1 lab	1f2440aeb0
6:65327310 EYS C>T	6	65327310	65327310	C	T	EYS	c.3684+1G>A	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65327310C>T	(Likely) pathogenic	1 lab	1f294476ad
2:179465696 TTN A>G	2	179465696	179465696	A	G	TTN	c.55935T>C	NM_001267550.2	NP_001254479.2:p.(Thr18645=)	NC_000002.11:g.179465696A>G	(Likely) benign	1 lab	1f294f0b22
18:28662951 DSC2 T>C	18	28662951	28662951	T	C	DSC2	c.1018A>G	NM_004949.5	NP_004940.1:p.(Thr340Ala)	NC_000018.9:g.28662951T>C	VUS	1 lab	1f2aa79171
20:34092621 CEP250 G>T	20	34092621	34092621	G	T	CEP250	c.6424G>T	NM_007186.6	NP_009117.2:p.(Asp2142Tyr)	NC_000020.10:g.34092621G>T	(Likely) benign	1 lab	1f2bec146e
8:94809361 TMEM67 G>A	8	94809361	94809361	G	A	TMEM67	c.1861-1G>A	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94809361G>A	(Likely) pathogenic	1 lab	1f31c91aab
2:179527093 TTN G>A	2	179527093	179527093	G	A	TTN	c.37011C>T	NM_001267550.2	NP_001254479.2:p.(Pro12337=)	NC_000002.11:g.179527093G>A	(Likely) benign	1 lab	1f38983b43
2:179596285 TTN G>A	2	179596285	179596285	G	A	TTN	c.17208C>T	NM_001267550.2	NP_001254479.2:p.(Ile5736=)	NC_000002.11:g.179596285G>A	(Likely) benign	1 lab	1f38bd990a
13:32915229 BRCA2 C>G	13	32915229	32915229	C	G	BRCA2	c.6737C>G	NM_000059.4	NP_000050.3:p.(Pro2246Arg)	NC_000013.10:g.32915229C>G	(Likely) benign	1 lab	1f3c1bacca
9:80022432 VPS13A A>C	9	80022432	80022432	A	C	VPS13A	c.9400-17A>C	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.80022432A>C	(Likely) benign	1 lab	1f42ee5c7f
17:48266863 COL1A1 C>T	17	48266863	48266863	C	T	COL1A1	c.2704G>A	NM_000088.4	NP_000079.2:p.(Gly902Ser)	NC_000017.10:g.48266863C>T	(Likely) pathogenic	1 lab	1f42f0b635
X:108925560 ACSL4 Ref too long to show for this DEL>A	X	108925560	108927408	Ref too long to show for this DEL	A	ACSL4	c.-12-804_406+387del	NM_001318510.2	NP_001305439.1:p.?	NC_000023.10:g.108925561_108927408del	(Likely) pathogenic	1 lab	1f46e126fa
8:10480189 RP1L1 T>C	8	10480189	10480189	T	C	RP1L1	c.523A>G	NM_178857.6	NP_849188.4:p.(Thr175Ala)	NC_000008.10:g.10480189T>C	(Likely) benign	1 lab	1f48381434
2:179446638 TTN G>A	2	179446638	179446638	G	A	TTN	c.66458C>T	NM_001267550.2	NP_001254479.2:p.(Pro22153Leu)	NC_000002.11:g.179446638G>A	VUS	1 lab	1f48c7655b
X:148684070 MISSING Ref too long to show for this DEL>G	X	148684070	148736102	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.148684071_148736102del	VUS	1 lab	1f492f8634
7:138604111 KIAA1549 G>A	7	138604111	138604111	G	A	KIAA1549	c.261C>T	NM_001164665.2	NP_001158137.1:p.(His87=)	NC_000007.13:g.138604111G>A	(Likely) benign	1 lab	1f4c2ec514
16:57012008 CETP C>T	16	57012008	57012008	C	T	CETP	c.987C>T	NM_000078.3	NP_000069.2:p.(Val329=)	NC_000016.9:g.57012008C>T	VUS	1 lab	1f4c3be22c
20:57415692 GNAS C>A	20	57415692	57415692	C	A	GNAS	c.531C>A	NM_016592.5	NP_057676.1:p.(Arg177=)	NC_000020.10:g.57415692C>A	(Likely) benign	1 lab	1f4f2f30c6
6:25897199 MISSING T>Alt too long to show for this DUP	6	25897199	26145573	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.25897200_26145573dup	VUS	1 lab	1f4faa6bb9
12:908496 MISSING C>Alt too long to show for this DUP	12	908496	1049300	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.908498_1049300dup	VUS	1 lab	1f513308a6
2:47234502 MISSING Ref too long to show for this DEL>T	2	47234502	47322834	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.47234504_47322834del	VUS	1 lab	1f53ce1a40
3:59999799 FHIT C>T	3	59999799	59999799	C	T	FHIT	c.183G>A	NM_002012.4	NP_002003.1:p.(Thr61=)	NC_000003.11:g.59999799C>T	(Likely) benign	1 lab	1f54e62205
14:23895043 MYH7 T>A	14	23895043	23895043	T	A	MYH7	c.2163-16A>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23895043T>A	(Likely) benign	1 lab	1f5532974d
10:95394607 PDE6C A>C	10	95394607	95394607	A	C	PDE6C	c.1212A>C	NM_006204.4	NP_006195.3:p.(Thr404=)	NC_000010.10:g.95394607A>C	(Likely) benign	1 lab	1f55c5ce4f
7:138597225 KIAA1549 C>A	7	138597225	138597225	C	A	KIAA1549	c.2879-19G>T	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138597225C>A	(Likely) benign	1 lab	1f584da62a
2:21255306 APOB C>G	2	21255306	21255306	C	G	APOB	c.1272G>C	NM_000384.3	NP_000375.3:p.(Gln424His)	NC_000002.11:g.21255306C>G	(Likely) benign	1 lab	1f5c8463ab
12:103249006 PAH TCATAGCAAGCATGGGTTTTATA>T	12	103249006	103249030	TCATAGCAAGCATGGGTTTTATA	T	PAH	c.592_613del	NM_001354304.2	NP_001341233.1:p.(Tyr198SerfsTer136)	NC_000012.11:g.103249009_103249030del	(Likely) pathogenic	1 lab	1f626c0f13
2:220500412 SLC4A3 G>A	2	220500412	220500412	G	A	SLC4A3	c.2071G>A	NM_001326559.2	NP_001313488.2:p.(Gly691Arg)	NC_000002.11:g.220500412G>A	(Likely) benign	1 lab	1f645b4fcf
10:104679220 CNNM2 C>T	10	104679220	104679220	C	T	CNNM2				NC_000010.10:g.104679220C>T	VUS	1 lab	fd92df0b46
3:175076709 MISSING Ref too long to show for this DEL>C	3	175076709	175740909	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.175076711_175740909del	VUS	1 lab	1f6a25bfb0
11:122941665 CLMP Ref too long to show for this DEL>T	11	122941665	122969331	Ref too long to show for this DEL	T	CLMP	c.29-671_*2516del	NM_024769.5	NP_079045.1:p.?	NC_000011.9:g.122941666_122969331del	VUS	1 lab	1f6b2e3221
10:88439166 LDB3 G>T	10	88439166	88439166	G	T	LDB3	c.136G>T	NM_001171610.2	NP_001165081.1:p.(Gly46Cys)	NC_000010.10:g.88439166G>T	VUS	1 lab	1f733e0552
15:32685253 GOLGA8K G>A	15	32685253	32685253	G	A	GOLGA8K	c.1707C>T	NM_001282493.1	NP_001269422.1:p.(Asp569=)	NC_000015.9:g.32685253G>A	(Likely) benign	1 lab	1f7b12870f
16:1004946 LMF1 C>G	16	1004946	1004946	C	G	LMF1	c.-361-280G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004946C>G	(Likely) benign	1 lab	1f7f364f11
7:81374362 HGF G>A	7	81374362	81374362	G	A	HGF	c.700C>T	NM_000601.6	NP_000592.3:p.(Arg234Cys)	NC_000007.13:g.81374362G>A	VUS	1 lab	1f7facdf7d
19:11200203 LDLR C>T	19	11200203	11200203	C	T	LDLR	c.-22C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200203C>T	VUS	1 lab	1f85f809d5
8:19816911 LPL G>A	8	19816911	19816911	G	A	LPL	c.1139+20G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816911G>A	(Likely) benign	1 lab	1f8a319fa7
16:56548609 BBS2 TA>T	16	56548609	56548611	TA	T	BBS2	c.118-18del	NM_031885.5	NP_114091.4:p.?	NC_000016.9:g.56548611del	(Likely) benign	1 lab	1f8ae48e89
16:919467 LMF1 C>T	16	919467	919467	C	T	LMF1	c.1018-411G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919467C>T	(Likely) benign	1 lab	1f8db7845a
3:38768368 SCN10A G>A	3	38768368	38768368	G	A	SCN10A	c.2816C>T	NM_006514.4	NP_006505.4:p.(Pro939Leu)	NC_000003.11:g.38768368G>A	(Likely) benign	1 lab	1f8f68f9e3
2:233068571 MISSING A>Alt too long to show for this DUP	2	233068571	233346082	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.233068573_233346082dup	VUS	1 lab	1f92774551
12:71523199 TSPAN8 TA>T	12	71523199	71523211	TA	T	TSPAN8	c.577-6del	NM_004616.3	NP_004607.1:p.?	NC_000012.11:g.71523211del	(Likely) benign	1 lab	1f959b2202
4:16010748 PROM1 C>T	4	16010748	16010748	C	T	PROM1	c.1115-17G>A	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16010748C>T	(Likely) benign	1 lab	1f98b6034d
11:117252491 CEP164 C>G	11	117252491	117252491	C	G	CEP164	c.1484C>G	NM_014956.5	NP_055771.4:p.(Pro495Arg)	NC_000011.9:g.117252491C>G	(Likely) benign	1 lab	1f9bff1b70
18:45375105 SMAD2 A>T	18	45375105	45375105	A	T	SMAD2	c.785-47T>A	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375105A>T	(Likely) benign	1 lab	1f9dd183ef
18:2674159 SMCHD1 CT>C	18	2674159	2674171	CT	C	SMCHD1	c.638+27del	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2674171del	(Likely) benign	1 lab	1fa11d7d37
6:66115184 EYS A>C	6	66115184	66115184	A	C	EYS	c.939T>G	NM_001292009.2	NP_001278938.1:p.(Ser313Arg)	NC_000006.11:g.66115184A>C	VUS	1 lab	1faec4cb7e
17:45214620 CDC27 T>C	17	45214620	45214620	T	C	CDC27	c.1829A>G	NM_001114091.4	NP_001107563.1:p.(Tyr610Cys)	NC_000017.10:g.45214620T>C	(Likely) benign	1 lab	1faf070955
6:7567601 DSP T>A	6	7567601	7567601	T	A	DSP	c.1059T>A	NM_004415.4	NP_004406.2:p.(Thr353=)	NC_000006.11:g.7567601T>A	(Likely) benign	1 lab	1fb285a126
10:61955998 ANK3 C>T	10	61955998	61955998	C	T	ANK3	c.1792G>A	NM_020987.5	NP_066267.2:p.(Gly598Arg)	NC_000010.10:g.61955998C>T	VUS	1 lab	1fb3bc93b1
7:26236069 HNRNPA2B1 C>T	7	26236069	26236069	C	T	HNRNPA2B1	c.646G>A	NM_031243.3	NP_112533.1:p.(Gly216Ser)	NC_000007.13:g.26236069C>T	VUS	1 lab	1fbaadfe46
6:135768239 AHI1 A>G	6	135768239	135768239	A	G	AHI1	c.1686T>C	NM_001134831.2	NP_001128303.1:p.(His562=)	NC_000006.11:g.135768239A>G	(Likely) benign	1 lab	1fbe02e913
16:57015067 CETP C>T	16	57015067	57015067	C	T	CETP	c.1147-3C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015067C>T	(Likely) benign	1 lab	1fca9ffa0d
12:125296443 SCARB1 G>A	12	125296443	125296443	G	A	SCARB1	c.699C>T	NM_001367981.1	NP_001354910.1:p.(Leu233=)	NC_000012.11:g.125296443G>A	(Likely) benign	1 lab	1fd74044a5
8:19816812 LPL A>T	8	19816812	19816812	A	T	LPL	c.1060A>T	NM_000237.3	NP_000228.1:p.(Ser354Cys)	NC_000008.10:g.19816812A>T	VUS	1 lab	1fde6aa78f
9:107591433 ABCA1 G>A	9	107591433	107591433	G	A	ABCA1	c.1893-14C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591433G>A	(Likely) benign	1 lab	1fe697f866
X:152710542 TREX2 G>T	X	152710542	152710542	G	T	TREX2	c.347C>A	NM_080701.4	NP_542432.2:p.(Ala116Asp)	NC_000023.10:g.152710542G>T	VUS	1 lab	1fe916d7c0
11:118506200 PHLDB1 C>T	11	118506200	118506200	C	T	PHLDB1	c.2469C>T	NM_015157.4	NP_055972.1:p.(Arg823=)	NC_000011.9:g.118506200C>T	(Likely) benign	1 lab	1fea68889b
11:47433556 SLC39A13 C>T	11	47433556	47433556	C	T	SLC39A13	c.381C>T	NM_152264.5	NP_689477.3:p.(Pro127=)	NC_000011.9:g.47433556C>T	(Likely) benign	1 lab	1fed27f8fe
10:70231554 DNA2 G>A	10	70231554	70231554	G	A	DNA2	c.68C>T	NM_001080449.3	NP_001073918.2:p.(Ala23Val)	NC_000010.10:g.70231554G>A	(Likely) benign	1 lab	1ff7b29091
16:88500994 ZNF469 C>G	16	88500994	88500994	C	G	ZNF469	c.7116C>G	NM_001367624.2	NP_001354553.1:p.(Thr2372=)	NC_000016.9:g.88500994C>G	(Likely) benign	1 lab	1fff02671e
11:47370151 MYBPC3 G>A	11	47370151	47370151	G	A	MYBPC3	c.655-59C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370151G>A	(Likely) benign	1 lab	1fff7b9695
X:44485596 MISSING Ref too long to show for this DEL>G	X	44485596	47421836	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.44485599_47421836del	(Likely) pathogenic	1 lab	20022ebe72
15:44859680 SPG11 G>A	15	44859680	44859680	G	A	SPG11	c.6696C>T	NM_025137.4	NP_079413.3:p.(Gly2232=)	NC_000015.9:g.44859680G>A	VUS	1 lab	20097eb11c
9:79836131 VPS13A A>G	9	79836131	79836131	A	G	VPS13A	c.1020A>G	NM_033305.3	NP_150648.2:p.(Glu340=)	NC_000009.11:g.79836131A>G	(Likely) benign	1 lab	200c0754f5
12:200344 IQSEC3 C>Alt too long to show for this DUP	12	200344	239417	C	Alt too long to show for this DUP	IQSEC3	c.555-7967_903+4339dup	NM_001170738.2	NP_001164209.1:p.?	NC_000012.11:g.200345_239417dup	VUS	1 lab	200d3b7645
X:99662262 PCDH19 T>C	X	99662262	99662262	T	C	PCDH19	c.1334A>G	NM_001184880.2	NP_001171809.1:p.(Asp445Gly)	NC_000023.10:g.99662262T>C	(Likely) pathogenic	1 lab	200e3c3fea
18:10979655 PIEZO2 T>G	18	10979655	10979655	T	G	PIEZO2	c.164A>C	NM_022068.4	NP_071351.2:p.(His55Pro)	NC_000018.9:g.10979655T>G	(Likely) benign	1 lab	2014346553
6:116949338 RSPH4A C>T	6	116949338	116949338	C	T	RSPH4A	c.1468C>T	NM_001010892.3	NP_001010892.1:p.(Arg490Ter)	NC_000006.11:g.116949338C>T	(Likely) pathogenic	1 lab	201738fce9
17:36499002 GPR179 G>A	17	36499002	36499002	G	A	GPR179	c.671C>T	NM_001004334.4	NP_001004334.3:p.(Thr224Met)	NC_000017.10:g.36499002G>A	(Likely) benign	1 lab	20189c27b6
2:73677029 ALMS1 A>G	2	73677029	73677029	A	G	ALMS1	c.3378A>G	NM_015120.4	NP_055935.4:p.(Val1126=)	NC_000002.11:g.73677029A>G	(Likely) benign	1 lab	20197ddb6f
2:21257766 APOB A>T	2	21257766	21257766	A	T	APOB	c.826T>A	NM_000384.3	NP_000375.3:p.(Tyr276Asn)	NC_000002.11:g.21257766A>T	(Likely) benign	1 lab	2020509f9b
17:44060775 MAPT C>T	17	44060775	44060775	C	T	MAPT	c.605C>T	NM_001123066.4	NP_001116538.2:p.(Pro202Leu)	NC_000017.10:g.44060775C>T	(Likely) benign	1 lab	202a3a982a
7:138602973 KIAA1549 C>T	7	138602973	138602973	C	T	KIAA1549	c.1399G>A	NM_001164665.2	NP_001158137.1:p.(Val467Ile)	NC_000007.13:g.138602973C>T	(Likely) benign	1 lab	2030504ef1
9:137716583 COL5A1 C>T	9	137716583	137716583	C	T	COL5A1	c.4836C>T	NM_000093.5	NP_000084.3:p.(Phe1612=)	NC_000009.11:g.137716583C>T	(Likely) benign	1 lab	20321ee7b3
8:43014162 HGSNAT C>T	8	43014162	43014162	C	T	HGSNAT	c.468C>T	NM_152419.3	NP_689632.2:p.(Asn156=)	NC_000008.10:g.43014162C>T	(Likely) benign	1 lab	2036378d7e
5:178409965 GRM6 G>A	5	178409965	178409965	G	A	GRM6	c.2382C>T	NM_000843.4	NP_000834.2:p.(Ile794=)	NC_000005.9:g.178409965G>A	(Likely) benign	1 lab	2039f36983
16:77317946 ADAMTS18 G>A	16	77317946	77317946	G	A	ADAMTS18	c.3573C>T	NM_199355.4	NP_955387.1:p.(Phe1191=)	NC_000016.9:g.77317946G>A	(Likely) benign	1 lab	203a06c896
1:235420250 MISSING A>Alt too long to show for this DUP	1	235420250	235759326	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.235420251_235759326dup	VUS	1 lab	204144a8a1
17:41247864 BRCA1 C>T	17	41247864	41247864	C	T	BRCA1	c.669G>A	NM_007294.4	NP_009225.1:p.(Lys223=)	NC_000017.10:g.41247864C>T	(Likely) benign	1 lab	204ae90f4c
1:91403367 ZNF644 A>G	1	91403367	91403367	A	G	ZNF644	c.3363T>C	NM_201269.3	NP_958357.1:p.(Asn1121=)	NC_000001.10:g.91403367A>G	(Likely) benign	1 lab	204e2aec26
2:179399129 TTN T>C	2	179399129	179399129	T	C	TTN	c.102213A>G	NM_001267550.2	NP_001254479.2:p.(Pro34071=)	NC_000002.11:g.179399129T>C	(Likely) benign	1 lab	204eb8958a
1:167825648 ADCY10 G>T	1	167825648	167825648	G	T	ADCY10	c.1650C>A	NM_001297772.2	NP_001284701.1:p.(Ile550=)	NC_000001.10:g.167825648G>T	(Likely) benign	1 lab	2051590694
2:21229623 APOB C>G	2	21229623	21229623	C	G	APOB	c.10117G>C	NM_000384.3	NP_000375.3:p.(Val3373Leu)	NC_000002.11:g.21229623C>G	(Likely) benign	1 lab	2057b9178e
12:122267956 SETD1B C>G	12	122267956	122267956	C	G	SETD1B	c.5728-16C>G	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122267956C>G	(Likely) benign	1 lab	205d5c1dab
10:90708646 ACTA2 A>G	10	90708646	90708646	A	G	ACTA2	c.42T>C	NM_001141945.2	NP_001135417.1:p.(Asn14=)	NC_000010.10:g.90708646A>G	(Likely) benign	1 lab	20686ea5f2
9:135202310 SETX T>C	9	135202310	135202310	T	C	SETX	c.4675A>G	NM_015046.7	NP_055861.3:p.(Lys1559Glu)	NC_000009.11:g.135202310T>C	VUS	1 lab	206bec0d40
14:23874881 MYH6 C>T	14	23874881	23874881	C	T	MYH6	c.300G>A	NM_002471.4	NP_002462.2:p.(Ala100=)	NC_000014.8:g.23874881C>T	(Likely) benign	1 lab	206c340531
15:51289980 AP4E1 G>A	15	51289980	51289980	G	A	AP4E1	c.2579G>A	NM_001252127.2	NP_001239056.1:p.(Trp860Ter)	NC_000015.9:g.51289980G>A	(Likely) pathogenic	1 lab	206f577eff
3:184040761 EIF4G1 G>A	3	184040761	184040761	G	A	EIF4G1	c.1929+19G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184040761G>A	(Likely) benign	1 lab	2076fc2b68
1:237863752 RYR2 G>A	1	237863752	237863752	G	A	RYR2	c.9352G>A	NM_001035.3	NP_001026.2:p.(Gly3118Arg)	NC_000001.10:g.237863752G>A	VUS	1 lab	20782218d1
3:58109430 FLNB TAA>T	3	58109430	58109453	TAA	T	FLNB	c.3724+35_3724+36del	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58109452_58109453del	(Likely) benign	1 lab	207d05ae7d
7:100858351 PLOD3 C>T	7	100858351	100858351	C	T	PLOD3	c.679+19G>A	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100858351C>T	(Likely) benign	1 lab	20824b2369
17:1249833 YWHAE A>Alt too long to show for this DUP	17	1249833	1258992	A	Alt too long to show for this DUP	YWHAE	c.579-1348_716-1041dup	NM_006761.5	NP_006752.1:p.?	NC_000017.10:g.1249837_1258992dup	(Likely) pathogenic	1 lab	2089f042fa
12:72989222 TRHDE Ref too long to show for this DEL>A	12	72989222	72997192	Ref too long to show for this DEL	A	TRHDE	c.2321+19903_2322-15479del	NM_013381.3	NP_037513.2:p.?	NC_000012.11:g.72989225_72997192del	VUS	1 lab	208c4c6c7a
14:67315242 GPHN A>Alt too long to show for this DUP	14	67315242	67380923	A	Alt too long to show for this DUP	GPHN	c.294+23959_390-1797dup	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67315243_67380923dup	VUS	1 lab	20945e2e50
11:108200995 ATM A>C	11	108200995	108200995	A	C	ATM	c.7362A>C	NM_000051.4	NP_000042.3:p.(Ala2454=)	NC_000011.9:g.108200995A>C	(Likely) benign	1 lab	2097e34a7e
9:19296098 MISSING G>Alt too long to show for this DUP	9	19296098	19533230	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.19296099_19533230dup	VUS	1 lab	20982c7fa0
1:211832061 NEK2 C>CAA	1	211832061	211832090	C	CAA	NEK2	c.1112-9_1112-8dup	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832089_211832090dup	(Likely) benign	1 lab	209b7cef2f
1:192350463 MISSING A>Alt too long to show for this DUP	1	192350463	192548394	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.192350464_192548394dup	VUS	1 lab	20a1f63a53
8:144998942 PLEC G>A	8	144998942	144998942	G	A	PLEC	c.5236C>T	NM_000445.5	NP_000436.2:p.(Arg1746Trp)	NC_000008.10:g.144998942G>A	VUS	1 lab	20a30e0972
9:107602568 ABCA1 T>C	9	107602568	107602568	T	C	ABCA1	c.1046A>G	NM_005502.4	NP_005493.2:p.(Asn349Ser)	NC_000009.11:g.107602568T>C	(Likely) benign	1 lab	20a3771291
2:179412563 TTN T>C	2	179412563	179412563	T	C	TTN	c.93790A>G	NM_001267550.2	NP_001254479.2:p.(Ile31264Val)	NC_000002.11:g.179412563T>C	VUS	1 lab	20a3b29c61
1:27874545 AHDC1 T>C	1	27874545	27874545	T	C	AHDC1	c.4082A>G	NM_001029882.3	NP_001025053.1:p.(Gln1361Arg)	NC_000001.10:g.27874545T>C	VUS	1 lab	20a4cd2917
3:9796384 OGG1 G>A	3	9796384	9796384	G	A	OGG1	c.566-4G>A	NM_016821.3	NP_058214.1:p.?	NC_000003.11:g.9796384G>A	(Likely) benign	1 lab	20a94f7f46
18:47109189 LIPG C>T	18	47109189	47109189	C	T	LIPG	c.1157+337C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47109189C>T	(Likely) benign	1 lab	20aa7fe26f
20:25282949 ABHD12 G>A	20	25282949	25282949	G	A	ABHD12	c.1063C>T	NM_001042472.3	NP_001035937.1:p.(Arg355Ter)	NC_000020.10:g.25282949G>A	(Likely) pathogenic	1 lab	20abd4478a
16:89986422 MC1R C>T	16	89986422	89986422	C	T	MC1R	c.756C>T	NM_002386.4	NP_002377.4:p.(Leu252=)	NC_000016.9:g.89986422C>T	(Likely) benign	1 lab	20b1acc16e
13:50123583 RCBTB1 C>G	13	50123583	50123583	C	G	RCBTB1	c.466+11G>C	NM_001352506.2	NP_001339435.1:p.?	NC_000013.10:g.50123583C>G	(Likely) benign	1 lab	20b3f98adc
2:12056884 MISSING Ref too long to show for this DEL>C	2	12056884	12882696	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.12056885_12882696del	VUS	1 lab	20b466ace9
9:137704433 COL5A1 G>A	9	137704433	137704433	G	A	COL5A1	c.3745-18G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137704433G>A	(Likely) benign	1 lab	20b4c46482
1:236714292 HEATR1 T>TAA	1	236714292	236714310	T	TAA	HEATR1	c.6347-4_6347-3dup	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714309_236714310dup	(Likely) benign	1 lab	20b769030a
3:49407823 MISSING A>Alt too long to show for this DUP	3	49407823	49615485	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.49407825_49615485dup	VUS	1 lab	20bb89cf06
17:48655667 CACNA1G C>T	17	48655667	48655667	C	T	CACNA1G	c.2043C>T	NM_198377.3	NP_938191.2:p.(Ala681=)	NC_000017.10:g.48655667C>T	(Likely) benign	1 lab	20c82d340f
8:75276490 GDAP1 C>T	8	75276490	75276490	C	T	GDAP1	c.965C>T	NM_018972.4	NP_061845.2:p.(Thr322Met)	NC_000008.10:g.75276490C>T	VUS	1 lab	20c8b92ab4
1:110170728 AMPD2 G>A	1	110170728	110170728	G	A	AMPD2	c.912G>A	NM_001257361.2	NP_001244290.1:p.(Ser304=)	NC_000001.10:g.110170728G>A	(Likely) benign	1 lab	20cc7e1d22
15:72810110 ARIH1 T>G	15	72810110	72810110	T	G	ARIH1	c.376-298T>G	NM_005744.5	NP_005735.2:p.?	NC_000015.9:g.72810110T>G	(Likely) benign	1 lab	20d10e1653
16:983907 LMF1 G>A	16	983907	983907	G	A	LMF1	c.115+84C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.983907G>A	(Likely) benign	1 lab	20d553f9bb
7:30651697 GARS1 T>G	7	30651697	30651697	T	G	GARS1	c.882-15T>G	NM_002047.4	NP_002038.2:p.?	NC_000007.13:g.30651697T>G	(Likely) benign	1 lab	20d7f20f1d
20:3076570 MISSING Ref too long to show for this DEL>A	20	3076570	3697000	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.3076571_3697000del	(Likely) pathogenic	1 lab	20dc0048df
17:48431068 XYLT2 G>T	17	48431068	48431068	G	T	XYLT2	c.213G>T	NM_022167.4	NP_071450.2:p.(Arg71=)	NC_000017.10:g.48431068G>T	(Likely) benign	1 lab	20dcb1348b
2:189899634 COL5A2 G>C	2	189899634	189899634	G	C	COL5A2	c.4353+8C>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189899634G>C	(Likely) benign	1 lab	20e3fb5bed
2:162280131 TBR1 C>T	2	162280131	162280131	C	T	TBR1	c.1442C>T	NM_006593.4	NP_006584.1:p.(Pro481Leu)	NC_000002.11:g.162280131C>T	VUS	1 lab	20e51cceb2
2:105977882 FHL2 C>T	2	105977882	105977882	C	T	FHL2	c.698G>A	NM_201555.2	NP_963849.1:p.(Gly233Asp)	NC_000002.11:g.105977882C>T	VUS	1 lab	20e6317d41
2:179641009 TTN C>T	2	179641009	179641009	C	T	TTN	c.5582G>A	NM_001267550.2	NP_001254479.2:p.(Arg1861His)	NC_000002.11:g.179641009C>T	VUS	1 lab	20e7fc1c63
7:94049841 COL1A2 T>C	7	94049841	94049841	T	C	COL1A2	c.2188-12T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94049841T>C	(Likely) benign	1 lab	20e8416c42
9:107593272 ABCA1 G>A	9	107593272	107593272	G	A	ABCA1	c.1826C>T	NM_005502.4	NP_005493.2:p.(Thr609Met)	NC_000009.11:g.107593272G>A	VUS	1 lab	20ea0fb864
11:65314902 LTBP3 C>T	11	65314902	65314902	C	T	LTBP3	c.2107+8G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65314902C>T	(Likely) benign	1 lab	20eb1ec2ff
11:108225594 ATM T>C	11	108225594	108225594	T	C	ATM	c.8843T>C	NM_000051.4	NP_000042.3:p.(Ile2948Thr)	NC_000011.9:g.108225594T>C	VUS	1 lab	20ebc68684
12:57963816 KIF5A C>A	12	57963816	57963816	C	A	KIF5A	c.1164C>A	NM_004984.4	NP_004975.2:p.(Ala388=)	NC_000012.11:g.57963816C>A	(Likely) benign	1 lab	20efffb6ed
13:66093549 MISSING Ref too long to show for this DEL>A	13	66093549	70306524	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.66093552_70306524del	(Likely) pathogenic	1 lab	20f3a1f9bf
9:107599765 ABCA1 C>T	9	107599765	107599765	C	T	ABCA1	c.1138G>A	NM_005502.4	NP_005493.2:p.(Val380Ile)	NC_000009.11:g.107599765C>T	(Likely) benign	1 lab	20f469eb48
19:11224329 LDLR T>A	19	11224329	11224329	T	A	LDLR	c.1477T>A	NM_000527.5	NP_000518.1:p.(Ser493Thr)	NC_000019.9:g.11224329T>A	(Likely) pathogenic	1 lab	20f73dad6b
13:32913654 BRCA2 AC>A	13	32913654	32913655	AC	A	BRCA2	c.5163del	NM_000059.4	NP_000050.3:p.(Asn1721LysfsTer4)	NC_000013.10:g.32913655del	(Likely) pathogenic	1 lab	20f991c217
8:144295166 GPIHBP1 G>A	8	144295166	144295166	G	A	GPIHBP1	c.24G>A	NM_178172.6	NP_835466.2:p.(Leu8=)	NC_000008.10:g.144295166G>A	(Likely) benign	1 lab	20f9d0fc41
4:100510802 MTTP C>CA	4	100510802	100510805	C	CA	MTTP	c.399dup	NM_000253.4	NP_000244.2:p.(Glu134ArgfsTer8)	NC_000004.11:g.100510805dup	(Likely) pathogenic	1 lab	20fec37d8d
3:136221612 STAG1 A>C	3	136221612	136221612	A	C	STAG1	c.686T>G	NM_005862.3	NP_005853.2:p.(Leu229Arg)	NC_000003.11:g.136221612A>C	(Likely) pathogenic	1 lab	210ef6d29a
2:112779920 MERTK A>G	2	112779920	112779920	A	G	MERTK	c.2435A>G	NM_006343.3	NP_006334.2:p.(Tyr812Cys)	NC_000002.11:g.112779920A>G	VUS	1 lab	21125fc27e
11:19207833 CSRP3 C>T	11	19207833	19207833	C	T	CSRP3	c.344G>A	NM_003476.5	NP_003467.1:p.(Gly115Glu)	NC_000011.9:g.19207833C>T	VUS	1 lab	211471f314
X:120008922 CT47B1 C>T	X	120008922	120008922	C	T	CT47B1	c.603G>A	NM_001145718.2	NP_001139190.1:p.(Ser201=)	NC_000023.10:g.120008922C>T	(Likely) benign	1 lab	211defe25e
15:58837936 LIPC A>G	15	58837936	58837936	A	G	LIPC	c.575-5A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837936A>G	(Likely) benign	1 lab	212014a5aa
11:121495870 SORL1 A>G	11	121495870	121495870	A	G	SORL1	c.6248A>G	NM_003105.6	NP_003096.2:p.(Lys2083Arg)	NC_000011.9:g.121495870A>G	(Likely) benign	1 lab	2121b24129
1:198672139 PTPRC Ref too long to show for this DEL>C	1	198672139	198688457	Ref too long to show for this DEL	C	PTPRC	c.584-287_1659+1026del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198672140_198688457del	VUS	1 lab	2124c56968
2:179519712 TTN A>C	2	179519712	179519712	A	C	TTN	c.38049T>G	NM_001267550.2	NP_001254479.2:p.(Ala12683=)	NC_000002.11:g.179519712A>C	(Likely) benign	1 lab	2125d0c32f
6:32011239 TNXB A>G	6	32011239	32011239	A	G	TNXB	c.11619T>C	NM_019105.8	NP_061978.6:p.(Tyr3873=)	NC_000006.11:g.32011239A>G	(Likely) benign	1 lab	212ef5e7bc
16:67978009 LCAT G>A	16	67978009	67978009	G	A	LCAT	c.-5C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67978009G>A	(Likely) benign	1 lab	213a8cc9ec
X:102339759 MISSING T>Alt too long to show for this DUP	X	102339759	102380003	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.102339760_102380003dup	VUS	1 lab	213c9a2e5a
10:92678740 ANKRD1 AATAAATAAATATAT>A	10	92678740	92678757	AATAAATAAATATAT	A	ANKRD1	c.346-25_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678757del	(Likely) benign	1 lab	214017ed0d
1:108331861 MISSING C>Alt too long to show for this DUP	1	108331861	108761441	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.108331862_108761441dup	VUS	1 lab	2140501e47
16:15916796 MYH11 T>C	16	15916796	15916796	T	C	MYH11	c.502+316A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15916796T>C	(Likely) benign	1 lab	21429b8474
1:236918471 ACTN2 C>T	1	236918471	236918471	C	T	ACTN2	c.1503C>T	NM_001278344.2	NP_001265273.1:p.(Asp501=)	NC_000001.10:g.236918471C>T	(Likely) benign	1 lab	2143f5a56e
11:6662466 DCHS1 C>T	11	6662466	6662466	C	T	DCHS1	c.379G>A	NM_003737.4	NP_003728.1:p.(Val127Ile)	NC_000011.9:g.6662466C>T	(Likely) benign	1 lab	2146799324
16:920717 LMF1 C>T	16	920717	920717	C	T	LMF1	c.833+12G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920717C>T	(Likely) benign	1 lab	214771780e
19:11226838 LDLR TCTA>T	19	11226838	11226843	TCTA	T	LDLR	c.1658_1660del	NM_000527.5	NP_000518.1:p.(Tyr553del)	NC_000019.9:g.11226841_11226843del	(Likely) pathogenic	1 lab	214ce9a835
2:179498038 TTN ACTTTT>A	2	179498038	179498043	ACTTTT	A	TTN	c.42957_42961del	NM_001267550.2	NP_001254479.2:p.(Lys14320GlyfsTer13)	NC_000002.11:g.179498039_179498043del	(Likely) benign	1 lab	215d213ddc
18:40858764 MISSING T>Alt too long to show for this DUP	18	40858764	40902365	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.40858768_40902365dup	VUS	1 lab	2164bc005d
2:179616188 TTN C>G	2	179616188	179616188	C	G	TTN	c.10939G>C	NM_133379.5	NP_596870.2:p.(Asp3647His)	NC_000002.11:g.179616188C>G	VUS	1 lab	2168519b90
11:47368095 MYBPC3 G>A	11	47368095	47368095	G	A	MYBPC3	c.926+83C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368095G>A	(Likely) benign	1 lab	2171bac324
10:94366049 KIF11 T>C	10	94366049	94366049	T	C	KIF11	c.105T>C	NM_004523.4	NP_004514.2:p.(Ala35=)	NC_000010.10:g.94366049T>C	(Likely) benign	1 lab	217266556f
2:233346569 ECEL1 C>T	2	233346569	233346569	C	T	ECEL1	c.1797-10G>A	NM_004826.4	NP_004817.2:p.?	NC_000002.11:g.233346569C>T	(Likely) benign	1 lab	21729a92f0
15:45404763 DUOX2 C>T	15	45404763	45404763	C	T	DUOX2	c.314G>A	NM_014080.5	NP_054799.4:p.(Gly105Glu)	NC_000015.9:g.45404763C>T	VUS	1 lab	217310144b
9:34989711 DNAJB5 G>A	9	34989711	34989711	G	A	DNAJB5				NC_000009.11:g.34989711G>A	VUS	1 lab	2173f51098
5:180046743 FLT4 C>G	5	180046743	180046743	C	G	FLT4	c.2569G>C	NM_182925.5	NP_891555.2:p.(Gly857Arg)	NC_000005.9:g.180046743C>G	(Likely) pathogenic	1 lab	2177c13160
1:103544384 COL11A1 T>C	1	103544384	103544384	T	C	COL11A1	c.318A>G	NM_080629.3	NP_542196.2:p.(Lys106=)	NC_000001.10:g.103544384T>C	(Likely) benign	1 lab	21793a53ff
8:19796585 LPL T>A	8	19796585	19796585	T	A	LPL				NC_000008.10:g.19796585T>A	VUS	1 lab	21839b0ed7
4:191003202 MISSING G>T	4	191003202	191003202	G	T	MISSING				NC_000004.11:g.191003202G>T	(Likely) benign	1 lab	45db37902a
12:133242116 POLE T>C	12	133242116	133242116	T	C	POLE	c.2320-80A>G	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133242116T>C	(Likely) benign	1 lab	2190930d52
8:24811077 NEFL C>T	8	24811077	24811077	C	T	NEFL	c.1402G>A	NM_006158.5	NP_006149.2:p.(Asp468Asn)	NC_000008.10:g.24811077C>T	(Likely) benign	1 lab	2191bf995f
1:55505822 PCSK9 G>A	1	55505822	55505822	G	A	PCSK9	c.207+105G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505822G>A	(Likely) benign	1 lab	219450f854
X:37479112 MISSING A>Alt too long to show for this DUP	X	37479112	37619191	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37479115_37619191dup	(Likely) pathogenic	1 lab	2194d337c8
11:47372476 MYBPC3 T>C	11	47372476	47372476	T	C	MYBPC3	c.293-310A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372476T>C	VUS	1 lab	2198795ad7
3:38623200 SCN5A T>C	3	38623200	38623200	T	C	SCN5A	c.2788-338A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38623200T>C	(Likely) benign	1 lab	2199341b94
X:77072890 MISSING A>Alt too long to show for this DUP	X	77072890	77140045	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.77072891_77140045dup	VUS	1 lab	219d4716a4
17:15134390 PMP22 G>T	17	15134390	15134390	G	T	PMP22	c.327C>A	NM_000304.4	NP_000295.1:p.(Cys109Ter)	NC_000017.10:g.15134390G>T	(Likely) pathogenic	1 lab	219d796e61
15:58838428 LIPC T>C	15	58838428	58838428	T	C	LIPC	c.808+254T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58838428T>C	(Likely) benign	1 lab	219f2d6a26
12:7242799 C1R C>A	12	7242799	7242799	C	A	C1R	c.277G>T	NM_001733.7	NP_001724.4:p.(Gly93Cys)	NC_000012.11:g.7242799C>A	VUS	1 lab	219fd0dc82
2:21225037 APOB C>T	2	21225037	21225037	C	T	APOB	c.13257G>A	NM_000384.3	NP_000375.3:p.(Lys4419=)	NC_000002.11:g.21225037C>T	(Likely) benign	1 lab	21a706fa3a
16:984444 LMF1 G>A	16	984444	984444	G	A	LMF1	c.-51-190C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.984444G>A	(Likely) benign	1 lab	21a73d0f6f
11:128683017 MISSING Ref too long to show for this DEL>A	11	128683017	128707538	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.128683018_128707538del	VUS	1 lab	21ac89f4b8
5:86669964 CCNH A>T	5	86669964	86669964	A	T	CCNH	c.933+20897T>A	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86669964A>T	(Likely) benign	1 lab	21afd5166b
2:179498783 TTN A>G	2	179498783	179498783	A	G	TTN	c.42443T>C	NM_001267550.2	NP_001254479.2:p.(Leu14148Pro)	NC_000002.11:g.179498783A>G	VUS	1 lab	21b19761a8
7:100276080 GNB2 C>T	7	100276080	100276080	C	T	GNB2	c.759C>T	NM_005273.4	NP_005264.2:p.(Phe253=)	NC_000007.13:g.100276080C>T	(Likely) benign	1 lab	21b52d7cfe
X:47065636 UBA1 G>C	X	47065636	47065636	G	C	UBA1	c.1742-11G>C	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47065636G>C	(Likely) benign	1 lab	21b7694015
20:42744419 JPH2 C>G	20	42744419	42744419	C	G	JPH2	c.1896G>C	NM_020433.5	NP_065166.2:p.(Glu632Asp)	NC_000020.10:g.42744419C>G	VUS	1 lab	21b8c827a2
2:27667362 IFT172 G>A	2	27667362	27667362	G	A	IFT172	c.5187C>T	NM_015662.3	NP_056477.1:p.(Asp1729=)	NC_000002.11:g.27667362G>A	(Likely) benign	1 lab	21be46df7a
1:92733663 GLMN A>G	1	92733663	92733663	A	G	GLMN	c.1007T>C	NM_053274.3	NP_444504.1:p.(Leu336Ser)	NC_000001.10:g.92733663A>G	(Likely) benign	1 lab	21c1d3f19a
1:63063830 ANGPTL3 T>C	1	63063830	63063830	T	C	ANGPTL3	c.495+98T>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63063830T>C	(Likely) benign	1 lab	21c2caa250
19:11222190 LDLR A>G	19	11222190	11222190	A	G	LDLR	c.1061A>G	NM_000527.5	NP_000518.1:p.(Asp354Gly)	NC_000019.9:g.11222190A>G	(Likely) pathogenic	1 lab	21c732c8ef
2:179397324 TTN A>G	2	179397324	179397324	A	G	TTN	c.104018T>C	NM_001267550.2	NP_001254479.2:p.(Met34673Thr)	NC_000002.11:g.179397324A>G	VUS	1 lab	21c7f36c41
7:143027925 CLCN1 G>A	7	143027925	143027925	G	A	CLCN1	c.914G>A	NM_000083.3	NP_000074.3:p.(Gly305Glu)	NC_000007.13:g.143027925G>A	VUS	1 lab	21ccb59de1
2:179559646 TTN T>A	2	179559646	179559646	T	A	TTN	c.31271-13A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179559646T>A	(Likely) benign	1 lab	21d31646a6
2:61444743 MISSING G>Alt too long to show for this DUP	2	61444743	61742632	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.61444745_61742632dup	(Likely) pathogenic	1 lab	21d48e0dc4
16:1004729 LMF1 C>T	16	1004729	1004729	C	T	LMF1	c.-361-63G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004729C>T	(Likely) benign	1 lab	21d744a769
2:189860905 COL3A1 G>A	2	189860905	189860905	G	A	COL3A1	c.1662+1G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860905G>A	(Likely) pathogenic	1 lab	21d877acaa
1:12020687 PLOD1 C>T	1	12020687	12020687	C	T	PLOD1	c.976-16C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12020687C>T	(Likely) benign	1 lab	21da1613da
9:107547920 ABCA1 C>T	9	107547920	107547920	C	T	ABCA1	c.6402G>A	NM_005502.4	NP_005493.2:p.(Arg2134=)	NC_000009.11:g.107547920C>T	(Likely) pathogenic	1 lab	21ddd1f292
16:21761404 MISSING Ref too long to show for this DEL>A	16	21761404	22710614	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.21761405_22710614del	(Likely) pathogenic	1 lab	21e2fa551a
10:121431964 BAG3 G>A	10	121431964	121431964	G	A	BAG3	c.705G>A	NM_004281.4	NP_004272.2:p.(Ala235=)	NC_000010.10:g.121431964G>A	(Likely) benign	1 lab	21e723ab67
2:179571697 TTN C>A	2	179571697	179571697	C	A	TTN	c.29042-16G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179571697C>A	(Likely) benign	1 lab	21e9646279
15:22414393 MISSING C>CAAA	15	22414393	22414404	C	CAAA	MISSING				NC_000015.9:g.22414402_22414404dup	(Likely) benign	1 lab	21e9b6f8f7
9:137655698 COL5A1 C>T	9	137655698	137655698	C	T	COL5A1	c.2034+115C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137655698C>T	(Likely) benign	1 lab	21eb38fbba
4:100521801 MTTP A>T	4	100521801	100521801	A	T	MTTP	c.1147A>T	NM_000253.4	NP_000244.2:p.(Ser383Cys)	NC_000004.11:g.100521801A>T	VUS	1 lab	21eba35f19
7:91722588 AKAP9 T>A	7	91722588	91722588	T	A	AKAP9	c.9536T>A	NM_005751.5	NP_005742.4:p.(Leu3179His)	NC_000007.13:g.91722588T>A	VUS	1 lab	21f20e03df
2:179435557 TTN G>A	2	179435557	179435557	G	A	TTN	c.75302C>T	NM_001267550.2	NP_001254479.2:p.(Thr25101Ile)	NC_000002.11:g.179435557G>A	VUS	1 lab	21f95d80c4
16:23647148 PALB2 G>C	16	23647148	23647148	G	C	PALB2	c.719C>G	NM_024675.4	NP_078951.2:p.(Pro240Arg)	NC_000016.9:g.23647148G>C	(Likely) benign	1 lab	21ff9abd79
14:105177360 INF2 C>A	14	105177360	105177360	C	A	INF2	c.2310+16C>A	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105177360C>A	(Likely) benign	1 lab	2202cf4def
1:89525080 GBP1 G>A	1	89525080	89525080	G	A	GBP1	c.348C>T	NM_002053.3	NP_002044.2:p.(Phe116=)	NC_000001.10:g.89525080G>A	(Likely) benign	1 lab	2202e1904b
16:77375663 ADAMTS18 C>G	16	77375663	77375663	C	G	ADAMTS18	c.1648G>C	NM_199355.4	NP_955387.1:p.(Gly550Arg)	NC_000016.9:g.77375663C>G	VUS	1 lab	2207ce265e
16:70884360 HYDIN G>A	16	70884360	70884360	G	A	HYDIN	c.12642C>T	NM_001270974.2	NP_001257903.1:p.(Asn4214=)	NC_000016.9:g.70884360G>A	(Likely) benign	1 lab	2207e4d312
6:7584930 DSP G>C	6	7584930	7584930	G	C	DSP	c.7435G>C	NM_004415.4	NP_004406.2:p.(Val2479Leu)	NC_000006.11:g.7584930G>C	VUS	1 lab	22097708cc
12:30833810 IPO8 C>G	12	30833810	30833810	C	G	IPO8	c.483-238G>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30833810C>G	(Likely) benign	1 lab	220c180c66
2:85662154 SH2D6 A>C	2	85662154	85662154	A	C	SH2D6	c.98-34A>C	NM_201594.3	NP_963888.2:p.?	NC_000002.11:g.85662154A>C	(Likely) benign	1 lab	221222b05a
6:84798796 MRAP2 CT>C	6	84798796	84798803	CT	C	MRAP2	c.228-7del	NM_001346542.2	NP_001333471.1:p.?	NC_000006.11:g.84798803del	(Likely) benign	1 lab	221f9841e1
9:133558188 MISSING A>Alt too long to show for this DUP	9	133558188	133596482	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.133558189_133596482dup	VUS	1 lab	222064020a
14:102881098 TECPR2 T>C	14	102881098	102881098	T	C	TECPR2	c.606T>C	NM_014844.5	NP_055659.2:p.(Ser202=)	NC_000014.8:g.102881098T>C	(Likely) benign	1 lab	2222978e10
1:984787 AGRN C>T	1	984787	984787	C	T	AGRN	c.4470C>T	NM_001305275.2	NP_001292204.1:p.(Asp1490=)	NC_000001.10:g.984787C>T	(Likely) benign	1 lab	2222f8f787
4:13485724 RAB28 C>A	4	13485724	13485724	C	A	RAB28	c.51G>T	NM_004249.4	NP_004240.2:p.(Val17=)	NC_000004.11:g.13485724C>A	(Likely) benign	1 lab	22254febf7
6:54720470 SACK1B A>Alt too long to show for this DUP	6	54720470	54805277	A	Alt too long to show for this DUP	SACK1B	c.-61+8849_1508dup	NM_001010872.3	NP_001010872.1:p.?	NC_000006.11:g.54720473_54805277dup	VUS	1 lab	222ed5bdfc
1:103352472 COL11A1 G>A	1	103352472	103352472	G	A	COL11A1	c.4785C>T	NM_080629.3	NP_542196.2:p.(Leu1595=)	NC_000001.10:g.103352472G>A	(Likely) benign	1 lab	223126d87f
11:47353717 MYBPC3 A>T	11	47353717	47353717	A	T	MYBPC3	c.3720T>A	NM_000256.3	NP_000247.2:p.(Ile1240=)	NC_000011.9:g.47353717A>T	(Likely) benign	1 lab	2233b843df
17:41251812 BRCA1 G>A	17	41251812	41251812	G	A	BRCA1	c.527C>T	NM_007294.4	NP_009225.1:p.(Thr176Met)	NC_000017.10:g.41251812G>A	(Likely) benign	1 lab	22344253e1
11:108788634 DDX10 G>GTGATGA	11	108788634	108788660	G	GTGATGA	DDX10	c.2360_2365dup	NM_004398.4	NP_004389.2:p.(Asp787_Asp788dup)	NC_000011.9:g.108788655_108788660dup	(Likely) benign	1 lab	2234abbe2b
9:119461275 ASTN2 G>A	9	119461275	119461275	G	A	ASTN2	c.2653+26775C>T	NM_014010.5	NP_054729.3:p.?	NC_000009.11:g.119461275G>A	(Likely) benign	1 lab	22387af8ad
2:44102450 ABCG8 C>T	2	44102450	44102450	C	T	ABCG8	c.1654C>T	NM_022437.3	NP_071882.1:p.(Leu552=)	NC_000002.11:g.44102450C>T	(Likely) benign	1 lab	223c07ee93
1:245021556 HNRNPU T>C	1	245021556	245021556	T	C	HNRNPU	c.1251A>G	NM_031844.3	NP_114032.2:p.(Val417=)	NC_000001.10:g.245021556T>C	(Likely) benign	1 lab	223e30939a
2:207003316 NDUFS1 C>T	2	207003316	207003316	C	T	NDUFS1	c.1285G>A	NM_005006.7	NP_004997.4:p.(Val429Met)	NC_000002.11:g.207003316C>T	VUS	1 lab	22464ff547
1:55527242 PCSK9 G>A	1	55527242	55527242	G	A	PCSK9	c.1863+13G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527242G>A	(Likely) benign	1 lab	224a68d937
22:50657884 TUBGCP6 G>A	22	50657884	50657884	G	A	TUBGCP6	c.4317C>T	NM_020461.4	NP_065194.3:p.(Ser1439=)	NC_000022.10:g.50657884G>A	(Likely) benign	1 lab	224e2bd9ff
22:22998282 MISSING Ref too long to show for this DEL>G	22	22998282	23643223	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.22998283_23643223del	(Likely) pathogenic	1 lab	224f49cfa8
19:10079093 COL5A3 C>T	19	10079093	10079093	C	T	COL5A3	c.4282G>A	NM_015719.4	NP_056534.2:p.(Val1428Met)	NC_000019.9:g.10079093C>T	(Likely) benign	1 lab	22524f6c2b
15:85405931 ALPK3 G>C	15	85405931	85405931	G	C	ALPK3	c.4195G>C	NM_020778.5	NP_065829.4:p.(Gly1399Arg)	NC_000015.9:g.85405931G>C	VUS	1 lab	225333eabb
16:920852 LMF1 G>A	16	920852	920852	G	A	LMF1	c.710C>T	NM_001352018.2	NP_001338947.1:p.(Ser237Leu)	NC_000016.9:g.920852G>A	VUS	1 lab	2253c3ae2f
2:21230778 APOB T>G	2	21230778	21230778	T	G	APOB	c.8962A>C	NM_000384.3	NP_000375.3:p.(Ile2988Leu)	NC_000002.11:g.21230778T>G	(Likely) benign	1 lab	225587219f
1:236849980 ACTN2 C>T	1	236849980	236849980	C	T	ACTN2	c.7C>T	NM_001103.4	NP_001094.1:p.(Gln3Ter)	NC_000001.10:g.236849980C>T	VUS	1 lab	2257aeab6d
22:37159962 IFT27 C>A	22	37159962	37159962	C	A	IFT27	c.352+1G>T	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37159962C>A	(Likely) pathogenic	1 lab	2258030c27
16:86601837 FOXC2 C>CG	16	86601837	86601838	C	CG	FOXC2	c.897dup	NM_005251.3	NP_005242.1:p.(Pro300AlafsTer163)	NC_000016.9:g.86601838dup	(Likely) pathogenic	1 lab	22592df13f
2:179422470 TTN G>C	2	179422470	179422470	G	C	TTN	c.87611C>G	NM_001267550.2	NP_001254479.2:p.(Thr29204Arg)	NC_000002.11:g.179422470G>C	(Likely) benign	1 lab	225f1f6a25
16:28493535 CLN3 G>C	16	28493535	28493535	G	C	CLN3	c.963-16C>G	NM_001042432.2	NP_001035897.1:p.?	NC_000016.9:g.28493535G>C	(Likely) benign	1 lab	2260b45575
14:23899103 MYH7 C>A	14	23899103	23899103	C	A	MYH7	c.1019G>T	NM_000257.4	NP_000248.2:p.(Gly340Val)	NC_000014.8:g.23899103C>A	VUS	1 lab	2265ec8c59
8:61763039 CHD7 G>T	8	61763039	61763039	G	T	CHD7	c.5405-13G>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61763039G>T	(Likely) benign	1 lab	226797c095
9:104189680 ALDOB T>G	9	104189680	104189680	T	G	ALDOB	c.540+84A>C	NM_000035.4	NP_000026.2:p.?	NC_000009.11:g.104189680T>G	(Likely) benign	1 lab	226b14f18c
1:78383622 NEXN CATTA>C	1	78383622	78383629	CATTA	C	NEXN	c.220-19_220-16del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78383626_78383629del	(Likely) benign	1 lab	226bdfb0a2
18:57122132 CCBE1 C>CA	18	57122132	57122133	C	CA	CCBE1	c.604dup	NM_133459.4	NP_597716.1:p.(Cys202LeufsTer27)	NC_000018.9:g.57122133dup	(Likely) pathogenic	1 lab	226f4f04c6
X:70444015 GJB1 T>C	X	70444015	70444015	T	C	GJB1	c.458T>C	NM_000166.6	NP_000157.1:p.(Phe153Ser)	NC_000023.10:g.70444015T>C	(Likely) pathogenic	1 lab	22746240ee
11:47359904 MYBPC3 A>T	11	47359904	47359904	A	T	MYBPC3	c.2308+167T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359904A>T	(Likely) benign	1 lab	22870b6ea3
11:116701110 APOC3 C>T	11	116701110	116701110	C	T	APOC3	c.-13-176C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701110C>T	(Likely) benign	1 lab	22885ec647
12:11214324 TAS2R46 C>T	12	11214324	11214324	C	T	TAS2R46	c.570G>A	NM_176887.2	NP_795368.2:p.(Leu190=)	NC_000012.11:g.11214324C>T	(Likely) benign	1 lab	228d1d7367
14:23851283 MYH6 A>T	14	23851283	23851283	A	T	MYH6	c.5797-11T>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23851283A>T	(Likely) benign	1 lab	228e25253b
X:128945390 ZDHHC9 C>T	X	128945390	128945390	C	T	ZDHHC9	c.873G>A	NM_001008222.3	NP_001008223.1:p.(Leu291=)	NC_000023.10:g.128945390C>T	(Likely) benign	1 lab	22928540a7
6:112512915 LAMA4 C>T	6	112512915	112512915	C	T	LAMA4	c.641G>A	NM_001105206.3	NP_001098676.2:p.(Arg214His)	NC_000006.11:g.112512915C>T	(Likely) benign	1 lab	22932fd58e
2:239237320 TRAF3IP1 C>T	2	239237320	239237320	C	T	TRAF3IP1	c.355-7C>T	NM_015650.4	NP_056465.2:p.?	NC_000002.11:g.239237320C>T	(Likely) benign	1 lab	22934637f8
16:2132449 TSC2 C>T	16	2132449	2132449	C	T	TSC2	c.3827C>T	NM_000548.5	NP_000539.2:p.(Ser1276Phe)	NC_000016.9:g.2132449C>T	(Likely) benign	1 lab	229612ef54
16:28461878 MISSING Ref too long to show for this DEL>T	16	28461878	29438327	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.28461880_29438327del	(Likely) pathogenic	1 lab	229996fdf3
7:128494715 FLNC C>T	7	128494715	128494715	C	T	FLNC	c.6976C>T	NM_001458.5	NP_001449.3:p.(Arg2326Ter)	NC_000007.13:g.128494715C>T	(Likely) pathogenic	1 lab	229caf3639
15:73615784 HCN4 G>T	15	73615784	73615784	G	T	HCN4	c.2650C>A	NM_005477.3	NP_005468.1:p.(Pro884Thr)	NC_000015.9:g.73615784G>T	VUS	1 lab	22a1417975
11:47360396 MYBPC3 A>AG	11	47360396	47360399	A	AG	MYBPC3	c.2149-167dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360399dup	(Likely) benign	1 lab	22a35a8cbc
19:11222264 LDLR T>C	19	11222264	11222264	T	C	LDLR	c.1135T>C	NM_000527.5	NP_000518.1:p.(Cys379Arg)	NC_000019.9:g.11222264T>C	(Likely) pathogenic	1 lab	22af792cc6
6:87964899 ZNF292 AAGAG>A	6	87964899	87964908	AAGAG	A	ZNF292	c.1138_1141del	NM_001351444.2	NP_001338373.1:p.(Glu380Ter)	NC_000006.11:g.87964905_87964908del	(Likely) pathogenic	1 lab	22b3b759b9
16:67977846 LCAT C>T	16	67977846	67977846	C	T	LCAT	c.154+5G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977846C>T	VUS	1 lab	22b459a3f4
3:44975288 MISSING G>Alt too long to show for this DUP	3	44975288	45331838	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.44975289_45331838dup	VUS	1 lab	22b8d36886
18:5397063 EPB41L3 A>G	18	5397063	5397063	A	G	EPB41L3	c.2835T>C	NM_012307.5	NP_036439.2:p.(His945=)	NC_000018.9:g.5397063A>G	(Likely) benign	1 lab	22bc9f3295
17:11502124 DNAH9 C>A	17	11502124	11502124	C	A	DNAH9	c.309C>A	NM_001372.4	NP_001363.2:p.(Phe103Leu)	NC_000017.10:g.11502124C>A	(Likely) benign	1 lab	22c20af95c
7:103341452 RELN C>A	7	103341452	103341452	C	A	RELN	c.807G>T	NM_005045.4	NP_005036.2:p.(Gly269=)	NC_000007.13:g.103341452C>A	(Likely) benign	1 lab	22c3eac210
12:21350034 SLCO1B1 G>A	12	21350034	21350034	G	A	SLCO1B1	c.882G>A	NM_006446.5	NP_006437.3:p.(Leu294=)	NC_000012.11:g.21350034G>A	(Likely) benign	1 lab	22c45a56ff
2:227662526 IRS1 G>T	2	227662526	227662526	G	T	IRS1	c.929C>A	NM_005544.3	NP_005535.1:p.(Ala310Asp)	NC_000002.11:g.227662526G>T	VUS	1 lab	22c543df7e
5:148384307 SH3TC2 C>T	5	148384307	148384307	C	T	SH3TC2	c.3834G>A	NM_024577.4	NP_078853.2:p.(Ala1278=)	NC_000005.9:g.148384307C>T	(Likely) benign	1 lab	22c9cbf013
16:918776 LMF1 CG>C	16	918776	918788	CG	C	LMF1	c.1130+167del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918788del	(Likely) benign	1 lab	22c9ed6ee6
10:116085784 AFAP1L2 C>CCCG	10	116085784	116085786	C	CCCG	AFAP1L2	c.330_331insCGG	NM_001287824.2	NP_001274753.1:p.(Leu110_Gly111insArg)	NC_000010.10:g.116085785_116085786insCGC	(Likely) benign	1 lab	22ca792670
2:215595116 BARD1 T>C	2	215595116	215595116	T	C	BARD1	c.2001+19A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215595116T>C	(Likely) benign	1 lab	22ce2cfb89
1:55505861 PCSK9 G>A	1	55505861	55505861	G	A	PCSK9	c.207+144G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505861G>A	(Likely) benign	1 lab	22d01c69a9
7:80285955 CD36 C>T	7	80285955	80285955	C	T	CD36	c.220C>T	NM_001001548.2	NP_001001548.1:p.(Gln74Ter)	NC_000007.13:g.80285955C>T	(Likely) pathogenic	1 lab	22d694853f
16:57005931 CETP G>A	16	57005931	57005931	G	A	CETP	c.686G>A	NM_000078.3	NP_000069.2:p.(Gly229Glu)	NC_000016.9:g.57005931G>A	(Likely) benign	1 lab	22d9e9a8cc
2:179516591 TTN G>C	2	179516591	179516591	G	C	TTN	c.39379+20C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516591G>C	(Likely) benign	1 lab	22da3ed8c3
1:236923258 ACTN2 T>A	1	236923258	236923258	T	A	ACTN2	c.2367+169T>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236923258T>A	(Likely) benign	1 lab	22dc2ead87
13:114763814 MISSING C>Alt too long to show for this DUP	13	114763814	114963087	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.114763816_114963087dup	VUS	1 lab	22ddcdf798
2:44066220 ABCG8 G>A	2	44066220	44066220	G	A	ABCG8	c.28G>A	NM_022437.3	NP_071882.1:p.(Gly10Arg)	NC_000002.11:g.44066220G>A	VUS	1 lab	22dec01a37
3:30729969 TGFBR2 G>A	3	30729969	30729969	G	A	TGFBR2	c.1565G>A	NM_001024847.2	NP_001020018.1:p.(Arg522Gln)	NC_000003.11:g.30729969G>A	(Likely) pathogenic	1 lab	22df590095
1:1724719 GNB1 G>A	1	1724719	1724719	G	A	GNB1	c.462C>T	NM_002074.5	NP_002065.1:p.(Asp154=)	NC_000001.10:g.1724719G>A	(Likely) benign	1 lab	22e00209b1
8:19810882 LPL C>T	8	19810882	19810882	C	T	LPL	c.491C>T	NM_000237.3	NP_000228.1:p.(Ala164Val)	NC_000008.10:g.19810882C>T	(Likely) benign	1 lab	22e0e2605c
9:4117982 GLIS3 T>C	9	4117982	4117982	T	C	GLIS3	c.1496A>G	NM_001042413.2	NP_001035878.1:p.(Lys499Arg)	NC_000009.11:g.4117982T>C	VUS	1 lab	22e1f810ad
5:73189087 ARHGEF28 G>T	5	73189087	73189087	G	T	ARHGEF28	c.3632G>T	NM_001080479.3	NP_001073948.2:p.(Arg1211Ile)	NC_000005.9:g.73189087G>T	VUS	1 lab	22e37e6bd5
10:79683913 MISSING Ref too long to show for this DEL>A	10	79683913	79721317	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.79683914_79721317del	VUS	1 lab	22e411f782
2:21231823 APOB T>C	2	21231823	21231823	T	C	APOB	c.7917A>G	NM_000384.3	NP_000375.3:p.(Ile2639Met)	NC_000002.11:g.21231823T>C	(Likely) benign	1 lab	22f0f653df
4:79793689 BMP2K Ref too long to show for this DEL>G	4	79793689	79831633	Ref too long to show for this DEL	G	BMP2K	c.1609-77_2063-131del	NM_198892.2	NP_942595.1:p.?	NC_000004.11:g.79793691_79831633del	(Likely) pathogenic	1 lab	22f58d1e84
16:1023578 LMF1 T>C	16	1023578	1023578	T	C	LMF1	c.-362+7567A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1023578T>C	(Likely) benign	1 lab	22f6f9e285
7:94056251 COL1A2 GA>G	7	94056251	94056265	GA	G	COL1A2	c.3106-55del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94056265del	(Likely) benign	1 lab	22f9830911
1:236925843 ACTN2 C>T	1	236925843	236925843	C	T	ACTN2	c.1985C>T	NM_001278344.2	NP_001265273.1:p.(Ser662Leu)	NC_000001.10:g.236925843C>T	VUS	1 lab	22facd275f
1:151377576 POGZ A>C	1	151377576	151377576	A	C	POGZ	c.3908T>G	NM_001194937.2	NP_001181866.1:p.(Ile1303Ser)	NC_000001.10:g.151377576A>C	(Likely) pathogenic	1 lab	22fe540c00
12:50501364 GPD1 G>T	12	50501364	50501364	G	T	GPD1	c.627G>T	NM_005276.4	NP_005267.2:p.(Val209=)	NC_000012.11:g.50501364G>T	(Likely) benign	1 lab	230165694b
12:12828977 MISSING Ref too long to show for this DEL>T	12	12828977	12874938	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.12828979_12874938del	(Likely) pathogenic	1 lab	2303a6f640
11:68204388 LRP5 G>A	11	68204388	68204388	G	A	LRP5	c.2289G>A	NM_001291902.2	NP_001278831.1:p.(Ala763=)	NC_000011.9:g.68204388G>A	(Likely) benign	1 lab	2304c2f786
21:47410328 COL6A1 G>A	21	47410328	47410328	G	A	COL6A1	c.994G>A	NM_001848.3	NP_001839.2:p.(Gly332Ser)	NC_000021.8:g.47410328G>A	VUS	1 lab	230a13e461
17:8192277 SLC25A35 C>T	17	8192277	8192277	C	T	SLC25A35	c.*657G>A	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192277C>T	(Likely) benign	1 lab	2310945a09
8:19148838 MISSING Ref too long to show for this DEL>C	8	19148838	19187672	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.19148839_19187672del	VUS	1 lab	231191f556
1:40778294 COL9A2 C>T	1	40778294	40778294	C	T	COL9A2	c.304-13G>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40778294C>T	(Likely) benign	1 lab	2315fedd03
11:26529813 ANO3 G>A	11	26529813	26529813	G	A	ANO3	c.591+4G>A	NM_031418.4	NP_113606.2:p.?	NC_000011.9:g.26529813G>A	(Likely) benign	1 lab	2318651c4a
15:48789789 FBN1 G>C	15	48789789	48789789	G	C	FBN1	c.2168-201C>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48789789G>C	(Likely) benign	1 lab	231fb72dac
4:9270289 USP17L22 C>T	4	9270289	9270289	C	T	USP17L22	c.945C>T	NM_001256863.1	NP_001243792.1:p.(Leu315=)	NC_000004.11:g.9270289C>T	(Likely) benign	1 lab	23207414d9
6:7584412 DSP G>A	6	7584412	7584412	G	A	DSP	c.6917G>A	NM_004415.4	NP_004406.2:p.(Ser2306Asn)	NC_000006.11:g.7584412G>A	VUS	1 lab	23214a697e
16:57005265 CETP C>T	16	57005265	57005265	C	T	CETP	c.630C>T	NM_000078.3	NP_000069.2:p.(Ile210=)	NC_000016.9:g.57005265C>T	(Likely) benign	1 lab	2321b62b9e
4:106359199 PPA2 AT>A	4	106359199	106359209	AT	A	PPA2	c.442-7del	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359209del	(Likely) benign	1 lab	2323507470
16:28883584 SH2B1 C>T	16	28883584	28883584	C	T	SH2B1	c.1587C>T	NM_015503.3	NP_056318.2:p.(His529=)	NC_000016.9:g.28883584C>T	(Likely) benign	1 lab	232b524e91
11:47362439 MYBPC3 C>A	11	47362439	47362439	C	A	MYBPC3	c.1927+115G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362439C>A	(Likely) benign	1 lab	23312519f5
6:56394949 DST G>A	6	56394949	56394949	G	A	DST	c.10752-18C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56394949G>A	(Likely) benign	1 lab	23348231a6
11:47372440 MYBPC3 T>C	11	47372440	47372440	T	C	MYBPC3	c.293-274A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372440T>C	(Likely) benign	1 lab	2336307454
16:1004873 LMF1 C>T	16	1004873	1004873	C	T	LMF1	c.-361-207G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004873C>T	(Likely) benign	1 lab	233799124c
22:21522852 MISSING Ref too long to show for this DEL>T	22	21522852	23818113	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.21522853_23818113del	(Likely) pathogenic	1 lab	233f7fec59
11:17793575 KCNC1 G>T	11	17793575	17793575	G	T	KCNC1	c.934G>T	NM_004976.4	NP_004967.1:p.(Val312Phe)	NC_000011.9:g.17793575G>T	VUS	1 lab	23416dd6f1
2:179593110 TTN G>T	2	179593110	179593110	G	T	TTN	c.19441C>A	NM_001267550.2	NP_001254479.2:p.(Pro6481Thr)	NC_000002.11:g.179593110G>T	VUS	1 lab	23433f19e2
12:4684230 DYRK4 Ref too long to show for this DEL>C	12	4684230	4700969	Ref too long to show for this DEL	C	DYRK4	c.132+7019_463+505del	NM_001394779.1	NP_001381708.1:p.?	NC_000012.11:g.4684233_4700969del	VUS	1 lab	2344b6e8ca
2:21233254 APOB A>T	2	21233254	21233254	A	T	APOB	c.6486T>A	NM_000384.3	NP_000375.3:p.(Asp2162Glu)	NC_000002.11:g.21233254A>T	VUS	1 lab	2346339d7d
1:94484125 ABCA4 T>C	1	94484125	94484125	T	C	ABCA4	c.5196+1013A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94484125T>C	(Likely) pathogenic	1 lab	234fb16dab
7:128498134 FLNC C>T	7	128498134	128498134	C	T	FLNC	c.7853C>T	NM_001458.5	NP_001449.3:p.(Ser2618Phe)	NC_000007.13:g.128498134C>T	VUS	1 lab	234fc031a9
5:127636282 FBN2 T>C	5	127636282	127636282	T	C	FBN2	c.6166+227A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127636282T>C	(Likely) benign	1 lab	235a3a5d23
6:41126506 TREM2 G>A	6	41126506	41126506	G	A	TREM2	c.689C>T	NM_018965.4	NP_061838.1:p.(Thr230Met)	NC_000006.11:g.41126506G>A	(Likely) benign	1 lab	235d8d18be
3:123339082 MYLK C>T	3	123339082	123339082	C	T	MYLK	c.5340G>A	NM_053025.4	NP_444253.3:p.(Pro1780=)	NC_000003.11:g.123339082C>T	(Likely) benign	1 lab	235ec2295d
8:10469937 RP1L1 G>A	8	10469937	10469937	G	A	RP1L1	c.1671C>T	NM_178857.6	NP_849188.4:p.(Gly557=)	NC_000008.10:g.10469937G>A	(Likely) benign	1 lab	2362427d68
15:58834827 LIPC C>T	15	58834827	58834827	C	T	LIPC	c.551C>T	NM_000236.3	NP_000227.2:p.(Thr184Met)	NC_000015.9:g.58834827C>T	VUS	1 lab	2363e97976
5:133948331 SAR1B T>TAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAA	SAR1B	c.244+36_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948358_133948371dup	(Likely) benign	1 lab	2368a9c722
8:134296572 NDRG1 CCT>C	8	134296572	134296574	CCT	C	NDRG1	c.-18-2_-18-1del	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134296573_134296574del	(Likely) benign	1 lab	236989b5ed
16:918992 LMF1 G>C	16	918992	918992	G	C	LMF1	c.1082C>G	NM_001352018.2	NP_001338947.1:p.(Ala361Gly)	NC_000016.9:g.918992G>C	VUS	1 lab	2369f33afb
17:46627945 HOXB3 A>G	17	46627945	46627945	A	G	HOXB3	c.1047T>C	NM_002146.4	NP_002137.4:p.(Ser349=)	NC_000017.10:g.46627945A>G	(Likely) benign	1 lab	236ce5d22e
8:141570502 AGO2 G>C	8	141570502	141570502	G	C	AGO2	c.626C>G	NM_012154.5	NP_036286.2:p.(Ser209Cys)	NC_000008.10:g.141570502G>C	VUS	1 lab	2370a64736
15:48712661 FBN1 A>G	15	48712661	48712661	A	G	FBN1	c.7819+223T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48712661A>G	(Likely) benign	1 lab	2371aaddb0
18:29115232 DSG2 G>A	18	29115232	29115232	G	A	DSG2	c.1281-1G>A	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29115232G>A	(Likely) pathogenic	1 lab	2371ed78f0
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+42_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524362_55524391del	(Likely) benign	1 lab	23788e75b1
7:108046621 MISSING Ref too long to show for this DEL>T	7	108046621	108390752	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.108046625_108390752del	VUS	1 lab	2378b557e5
2:85531116 TCF7L1 C>T	2	85531116	85531116	C	T	TCF7L1	c.757C>T	NM_031283.3	NP_112573.1:p.(Pro253Ser)	NC_000002.11:g.85531116C>T	(Likely) benign	1 lab	237911f298
19:11224206 LDLR C>G	19	11224206	11224206	C	G	LDLR	c.1359-5C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224206C>G	(Likely) pathogenic	1 lab	237a6dd073
11:99702990 CNTN5 Ref too long to show for this DEL>T	11	99702990	99750450	Ref too long to show for this DEL	T	CNTN5	c.277+12497_577+34456del	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.99702993_99750450del	VUS	1 lab	237de7742b
2:160261398 BAZ2B G>A	2	160261398	160261398	G	A	BAZ2B	c.2794C>T	NM_013450.4	NP_038478.2:p.(Arg932Trp)	NC_000002.11:g.160261398G>A	VUS	1 lab	23802f5ba9
17:57109156 MISSING T>Alt too long to show for this DUP	17	57109156	57337734	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.57109157_57337734dup	VUS	1 lab	2381148fb1
5:161281215 GABRA1 C>G	5	161281215	161281215	C	G	GABRA1	c.126C>G	NM_001127644.2	NP_001121116.1:p.(Phe42Leu)	NC_000005.9:g.161281215C>G	(Likely) pathogenic	1 lab	23892210af
7:91632562 AKAP9 C>A	7	91632562	91632562	C	A	AKAP9	c.3318+13C>A	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91632562C>A	(Likely) benign	1 lab	238a973fc0
18:10787047 PIEZO2 G>A	18	10787047	10787047	G	A	PIEZO2	c.2305C>T	NM_022068.4	NP_071351.2:p.(Leu769=)	NC_000018.9:g.10787047G>A	(Likely) benign	1 lab	238d5232f6
4:175429370 HPGD GT>G	4	175429370	175429372	GT	G	HPGD	c.421+476del	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175429372del	(Likely) benign	1 lab	238d93c597
7:44144285 AEBP1 G>A	7	44144285	44144285	G	A	AEBP1	c.21G>A	NM_001129.5	NP_001120.3:p.(Ala7=)	NC_000007.13:g.44144285G>A	(Likely) benign	1 lab	2391f562c0
16:984245 LMF1 G>A	16	984245	984245	G	A	LMF1	c.186C>T	NM_001352019.2	NP_001338948.1:p.(Phe62=)	NC_000016.9:g.984245G>A	(Likely) benign	1 lab	2398d338d1
1:20975047 PINK1 T>C	1	20975047	20975047	T	C	PINK1	c.1173T>C	NM_032409.3	NP_115785.1:p.(Asp391=)	NC_000001.10:g.20975047T>C	(Likely) benign	1 lab	239c5b7896
9:107564404 ABCA1 T>A	9	107564404	107564404	T	A	ABCA1	c.4629A>T	NM_005502.4	NP_005493.2:p.(Gln1543His)	NC_000009.11:g.107564404T>A	VUS	1 lab	239f20323d
16:88500574 ZNF469 C>T	16	88500574	88500574	C	T	ZNF469	c.6696C>T	NM_001367624.2	NP_001354553.1:p.(Ser2232=)	NC_000016.9:g.88500574C>T	(Likely) benign	1 lab	23a092129c
4:114277171 ANK2 G>A	4	114277171	114277171	G	A	ANK2	c.7397G>A	NM_001148.6	NP_001139.3:p.(Arg2466His)	NC_000004.11:g.114277171G>A	(Likely) benign	1 lab	23a55b3929
16:1004503 LMF1 C>G	16	1004503	1004503	C	G	LMF1	c.30G>C	NM_001352019.2	NP_001338948.1:p.(Trp10Cys)	NC_000016.9:g.1004503C>G	VUS	1 lab	23a6e97537
5:127647062 FBN2 G>A	5	127647062	127647062	G	A	FBN2	c.5004C>T	NM_001999.4	NP_001990.2:p.(Asn1668=)	NC_000005.9:g.127647062G>A	(Likely) benign	1 lab	23ae8b59a0
1:5947546 NPHP4 G>A	1	5947546	5947546	G	A	NPHP4	c.2305-20C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5947546G>A	(Likely) benign	1 lab	23b12b59dc
17:15163980 PMP22 G>A	17	15163980	15163980	G	A	PMP22	c.65C>T	NM_000304.4	NP_000295.1:p.(Ser22Phe)	NC_000017.10:g.15163980G>A	(Likely) pathogenic	1 lab	23b4db30d5
10:95400709 PDE6C C>T	10	95400709	95400709	C	T	PDE6C	c.1770C>T	NM_006204.4	NP_006195.3:p.(Leu590=)	NC_000010.10:g.95400709C>T	(Likely) benign	1 lab	23b9f4f29c
15:45388140 DUOX2 G>A	15	45388140	45388140	G	A	DUOX2	c.3966C>T	NM_014080.5	NP_054799.4:p.(Ser1322=)	NC_000015.9:g.45388140G>A	(Likely) benign	1 lab	23bba4ac0b
7:81339571 HGF C>T	7	81339571	81339571	C	T	HGF	c.1445-12G>A	NM_000601.6	NP_000592.3:p.?	NC_000007.13:g.81339571C>T	(Likely) benign	1 lab	23bf7feff8
6:112466139 LAMA4 C>A	6	112466139	112466139	C	A	LAMA4	c.2333-4G>T	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112466139C>A	(Likely) benign	1 lab	23c424b09e
12:122252064 SETD1B C>T	12	122252064	122252064	C	T	SETD1B	c.1943C>T	NM_001353345.2	NP_001340274.1:p.(Ser648Leu)	NC_000012.11:g.122252064C>T	(Likely) benign	1 lab	23c7ba30bc
2:212537994 ERBB4 T>A	2	212537994	212537994	T	A	ERBB4	c.1623-12A>T	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212537994T>A	(Likely) benign	1 lab	23c98477c9
12:56631364 SLC39A5 T>C	12	56631364	56631364	T	C	SLC39A5	c.1480-8T>C	NM_173596.3	NP_775867.2:p.?	NC_000012.11:g.56631364T>C	(Likely) benign	1 lab	23cb14c9bf
15:23889633 MAGEL2 G>T	15	23889633	23889633	G	T	MAGEL2	c.3257C>A	NM_019066.5	NP_061939.3:p.(Ala1086Asp)	NC_000015.9:g.23889633G>T	(Likely) benign	1 lab	23cb33ae07
15:72767214 ARIH1 T>TGGC	15	72767214	72767237	T	TGGC	ARIH1	c.255_257dup	NM_005744.5	NP_005735.2:p.(Gly90dup)	NC_000015.9:g.72767235_72767237dup	(Likely) benign	1 lab	23ce01df49
3:123376422 MYLK A>G	3	123376422	123376422	A	G	MYLK	c.3986-147T>C	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123376422A>G	(Likely) benign	1 lab	23d8e75dec
1:66037654 LEPR C>CAAAAAA	1	66037654	66037672	C	CAAAAAA	LEPR	c.371-342_371-337dup	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66037667_66037672dup	(Likely) benign	1 lab	23d9eb79bb
X:130222062 MISSING G>Alt too long to show for this DUP	X	130222062	130974330	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.130222063_130974330dup	VUS	1 lab	23e0e2858c
12:57422934 MYO1A G>A	12	57422934	57422934	G	A	MYO1A	c.2987C>T	NM_001256041.2	NP_001242970.1:p.(Thr996Ile)	NC_000012.11:g.57422934G>A	(Likely) benign	1 lab	23f48ebf03
12:21375306 SLCO1B1 G>GAAAA	12	21375306	21375332	G	GAAAA	SLCO1B1	c.1747+31_1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375329_21375332dup	(Likely) benign	1 lab	23f56e59fe
5:155756609 SGCD G>A	5	155756609	155756609	G	A	SGCD	c.-1+2367G>A	NM_001128209.2	NP_001121681.1:p.?	NC_000005.9:g.155756609G>A	(Likely) benign	1 lab	23f59d3b4c
7:128494730 FLNC G>A	7	128494730	128494730	G	A	FLNC	c.6991G>A	NM_001458.5	NP_001449.3:p.(Val2331Met)	NC_000007.13:g.128494730G>A	(Likely) benign	1 lab	23fbe556e4
22:46487174 MISSING C>Alt too long to show for this DUP	22	46487174	46560667	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.46487178_46560667dup	VUS	1 lab	23fe6fa251
5:148442695 SH3TC2 G>A	5	148442695	148442695	G	A	SH3TC2				NC_000005.9:g.148442695G>A	(Likely) benign	1 lab	23fedeaa50
11:47371942 MYBPC3 C>T	11	47371942	47371942	C	T	MYBPC3	c.406+111G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371942C>T	(Likely) benign	1 lab	24008bee05
12:117922368 KSR2 G>C	12	117922368	117922368	G	C	KSR2	c.2317-14C>G	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117922368G>C	(Likely) benign	1 lab	240368c661
5:140062819 HARS1 C>G	5	140062819	140062819	C	G	HARS1	c.181-15G>C	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140062819C>G	(Likely) benign	1 lab	240d445395
8:10467599 RP1L1 G>T	8	10467599	10467599	G	T	RP1L1	c.4009C>A	NM_178857.6	NP_849188.4:p.(Gln1337Lys)	NC_000008.10:g.10467599G>T	(Likely) benign	1 lab	240da903ab
15:48736684 FBN1 A>T	15	48736684	48736684	A	T	FBN1	c.6037+54T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48736684A>T	(Likely) benign	1 lab	240e0216a2
15:85406174 ALPK3 T>A	15	85406174	85406174	T	A	ALPK3	c.4410+28T>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406174T>A	(Likely) benign	1 lab	240e45f15f
17:63533887 AXIN2 G>A	17	63533887	63533887	G	A	AXIN2	c.1267C>T	NM_004655.4	NP_004646.3:p.(Leu423Phe)	NC_000017.10:g.63533887G>A	VUS	1 lab	24163d1c76
17:3646499 ITGAE C>Alt too long to show for this DUP	17	3646499	3651289	C	Alt too long to show for this DUP	ITGAE	c.2082_2448+283dup	NM_002208.5	NP_002199.3:p.?	NC_000017.10:g.3646500_3651289dup	VUS	1 lab	2418442255
7:23286491 GPNMB C>A	7	23286491	23286491	C	A	GPNMB	c.15C>A	NM_001005340.2	NP_001005340.1:p.(Tyr5Ter)	NC_000007.13:g.23286491C>A	(Likely) pathogenic	1 lab	24186c8af2
8:19809377 LPL G>C	8	19809377	19809377	G	C	LPL	c.347G>C	NM_000237.3	NP_000228.1:p.(Arg116Pro)	NC_000008.10:g.19809377G>C	VUS	1 lab	2420379202
17:75398287 SEPTIN9 G>T	17	75398287	75398287	G	T	SEPTIN9	c.169G>T	NM_006640.5	NP_006631.2:p.(Ala57Ser)	NC_000017.10:g.75398287G>T	VUS	1 lab	2421500537
1:215972298 USH2A A>G	1	215972298	215972298	A	G	USH2A	c.9909T>C	NM_206933.4	NP_996816.3:p.(Asp3303=)	NC_000001.10:g.215972298A>G	(Likely) benign	1 lab	2430b66f3e
2:160918804 PLA2R1 A>C	2	160918804	160918804	A	C	PLA2R1	c.109+2T>G	NM_007366.5	NP_031392.3:p.?	NC_000002.11:g.160918804A>C	(Likely) benign	1 lab	2439d930f6
11:116701999 APOC3 CCTTT>C	11	116701999	116702016	CCTTT	C	APOC3	c.179+401_179+404del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702013_116702016del	(Likely) benign	1 lab	243e91db13
6:7586231 DSP A>G	6	7586231	7586231	A	G	DSP	c.*120A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7586231A>G	(Likely) benign	1 lab	244529d093
5:149275993 PDE6A G>C	5	149275993	149275993	G	C	PDE6A	c.1546C>G	NM_000440.3	NP_000431.2:p.(Leu516Val)	NC_000005.9:g.149275993G>C	(Likely) benign	1 lab	244b188b78
16:88901579 GALNS C>G	16	88901579	88901579	C	G	GALNS	c.916+42G>C	NM_001323544.2	NP_001310473.1:p.?	NC_000016.9:g.88901579C>G	(Likely) benign	1 lab	244c4f37c1
9:135203910 SETX TTCA>T	9	135203910	135203928	TTCA	T	SETX	c.3072_3074del	NM_001351527.2	NP_001338456.1:p.(Asp1024del)	NC_000009.11:g.135203926_135203928del	(Likely) benign	1 lab	244cbbf8ee
9:107585023 ABCA1 C>T	9	107585023	107585023	C	T	ABCA1	c.2657-75G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585023C>T	(Likely) benign	1 lab	244ec3220d
5:36115212 LMBRD2 G>A	5	36115212	36115212	G	A	LMBRD2	c.1447C>T	NM_001007527.2	NP_001007528.1:p.(Arg483Cys)	NC_000005.9:g.36115212G>A	(Likely) pathogenic	1 lab	245399baf6
19:42906901 LIPE G>C	19	42906901	42906901	G	C	LIPE	c.2825C>G	NM_005357.4	NP_005348.2:p.(Pro942Arg)	NC_000019.9:g.42906901G>C	VUS	1 lab	2457068e16
13:32944621 BRCA2 TAT>C	13	32944621	32944623	TAT	C	BRCA2	c.8414_8416delinsC	NM_000059.4	NP_000050.3:p.(Leu2805SerfsTer6)	NC_000013.10:g.32944621_32944623delinsC	(Likely) pathogenic	1 lab	245924710e
12:117962870 KSR2 C>G	12	117962870	117962870	C	G	KSR2	c.2006G>C	NM_173598.6	NP_775869.4:p.(Gly669Ala)	NC_000012.11:g.117962870C>G	VUS	1 lab	2459c2814e
12:31245873 MISSING Ref too long to show for this DEL>C	12	31245873	31339371	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.31245874_31339371del	VUS	1 lab	245c0c78c7
X:2833643 ARSD C>A	X	2833643	2833643	C	A	ARSD	c.954G>T	NM_001669.4	NP_001660.2:p.(Gln318His)	NC_000023.10:g.2833643C>A	(Likely) benign	1 lab	245e7c6490
8:144295750 GPIHBP1 G>C	8	144295750	144295750	G	C	GPIHBP1	c.106G>C	NM_178172.6	NP_835466.2:p.(Asp36His)	NC_000008.10:g.144295750G>C	VUS	1 lab	245f89e2ae
1:25889656 LDLRAP1 C>T	1	25889656	25889656	C	T	LDLRAP1	c.616+12C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889656C>T	(Likely) benign	1 lab	24660e05e4
16:943317 LMF1 C>CT	16	943317	943320	C	CT	LMF1	c.265-246dup	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943320dup	(Likely) benign	1 lab	24692fbffd
12:32949248 PKP2 AAAAAC>A	12	32949248	32949259	AAAAAC	A	PKP2	c.2300-21_2300-17del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949255_32949259del	(Likely) benign	1 lab	246e643ba3
1:181702831 CACNA1E C>T	1	181702831	181702831	C	T	CACNA1E	c.3207C>T	NM_001205293.3	NP_001192222.1:p.(Ser1069=)	NC_000001.10:g.181702831C>T	(Likely) benign	1 lab	246f6aafaa
4:100543846 MTTP A>G	4	100543846	100543846	A	G	MTTP	c.2526A>G	NM_000253.4	NP_000244.2:p.(Lys842=)	NC_000004.11:g.100543846A>G	(Likely) benign	1 lab	247114120a
17:48269237 COL1A1 CCT>C	17	48269237	48269244	CCT	C	COL1A1	c.2037_2038del	NM_000088.4	NP_000079.2:p.(Gly680PhefsTer29)	NC_000017.10:g.48269243_48269244del	(Likely) pathogenic	1 lab	247667358e
8:48627092 MISSING T>Alt too long to show for this DUP	8	48627092	48691960	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.48627093_48691960dup	VUS	1 lab	247773fe31
7:128484273 FLNC G>T	7	128484273	128484273	G	T	FLNC	c.3145G>T	NM_001458.5	NP_001449.3:p.(Gly1049Cys)	NC_000007.13:g.128484273G>T	VUS	1 lab	24782f42bc
2:174575246 MISSING Ref too long to show for this DEL>G	2	174575246	175276948	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.174575248_175276948del	VUS	1 lab	2479cb515e
X:124596108 MISSING T>Alt too long to show for this DUP	X	124596108	125352547	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.124596111_125352547dup	VUS	1 lab	247a9e738d
X:49087335 CACNA1F G>C	X	49087335	49087335	G	C	CACNA1F	c.498C>G	NM_005183.4	NP_005174.2:p.(Leu166=)	NC_000023.10:g.49087335G>C	(Likely) benign	1 lab	247b0cc204
6:79770466 PHIP C>G	6	79770466	79770466	C	G	PHIP	c.259G>C	NM_017934.7	NP_060404.4:p.(Glu87Gln)	NC_000006.11:g.79770466C>G	VUS	1 lab	247bb6f17c
11:68205900 LRP5 T>C	11	68205900	68205900	T	C	LRP5	c.4112-14T>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68205900T>C	(Likely) benign	1 lab	248290386a
14:91804417 CCDC88C G>C	14	91804417	91804417	G	C	CCDC88C	c.982C>G	NM_001080414.4	NP_001073883.2:p.(Leu328Val)	NC_000014.8:g.91804417G>C	VUS	1 lab	248514c76e
16:57493629 COQ9 G>C	16	57493629	57493629	G	C	COQ9	c.864G>C	NM_020312.4	NP_064708.1:p.(Lys288Asn)	NC_000016.9:g.57493629G>C	(Likely) benign	1 lab	248bb2863f
8:144297787 GPIHBP1 G>A	8	144297787	144297787	G	A	GPIHBP1	c.*394G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297787G>A	(Likely) benign	1 lab	248c1f2e8f
2:179568878 TTN G>A	2	179568878	179568878	G	A	TTN	c.30219C>T	NM_001267550.2	NP_001254479.2:p.(Ile10073=)	NC_000002.11:g.179568878G>A	(Likely) benign	1 lab	2494670f21
15:85383365 ALPK3 AGAGGACGGAGAGCATGGCTTGCTGACATACATCTGT>A	15	85383365	85383403	AGAGGACGGAGAGCATGGCTTGCTGACATACATCTGT	A	ALPK3	c.858_893del	NM_020778.5	NP_065829.4:p.(Glu286_Cys297del)	NC_000015.9:g.85383368_85383403del	VUS	1 lab	249789bcf4
9:27157914 TEK C>T	9	27157914	27157914	C	T	TEK	c.138C>T	NM_000459.5	NP_000450.3:p.(Ala46=)	NC_000009.11:g.27157914C>T	(Likely) benign	1 lab	24a4056b8b
19:52942075 ZNF534 C>G	19	52942075	52942075	C	G	ZNF534	c.1401C>G	NM_001143939.3	NP_001137411.1:p.(Thr467=)	NC_000019.9:g.52942075C>G	(Likely) benign	1 lab	24a8778189
10:102510493 PAX2 C>T	10	102510493	102510493	C	T	PAX2	c.255C>T	NM_003988.5	NP_003979.2:p.(Gly85=)	NC_000010.10:g.102510493C>T	(Likely) benign	1 lab	24a8e0bbb4
19:55665412 TNNI3 CCTT>C	19	55665412	55665419	CCTT	C	TNNI3	c.532_534del	NM_000363.5	NP_000354.4:p.(Lys178del)	NC_000019.9:g.55665417_55665419del	(Likely) pathogenic	1 lab	24a9040238
12:22048191 ABCC9 A>G	12	22048191	22048191	A	G	ABCC9	c.1659+18T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22048191A>G	(Likely) benign	1 lab	24b04ce183
7:100853714 PLOD3 G>A	7	100853714	100853714	G	A	PLOD3	c.1512C>T	NM_001084.5	NP_001075.1:p.(Leu504=)	NC_000007.13:g.100853714G>A	(Likely) benign	1 lab	24b2d022aa
7:94248141 SGCE G>A	7	94248141	94248141	G	A	SGCE	c.591C>T	NM_001099401.2	NP_001092871.1:p.(Asn197=)	NC_000007.13:g.94248141G>A	(Likely) benign	1 lab	24b2f391c7
22:38565282 PLA2G6 G>C	22	38565282	38565282	G	C	PLA2G6	c.152C>G	NM_001349864.2	NP_001336793.1:p.(Pro51Arg)	NC_000022.10:g.38565282G>C	VUS	1 lab	24b34d3f58
12:110605652 IFT81 CTTTTTT>C	12	110605652	110605669	CTTTTTT	C	IFT81	c.1188+4794_1188+4799del	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110605664_110605669del	(Likely) benign	1 lab	24b98ffcaa
1:211654590 RD3 G>A	1	211654590	211654590	G	A	RD3	c.168C>T	NM_183059.3	NP_898882.1:p.(Thr56=)	NC_000001.10:g.211654590G>A	(Likely) benign	1 lab	24bbb1d5af
14:23893370 MYH7 G>A	14	23893370	23893370	G	A	MYH7	c.2680-12C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23893370G>A	(Likely) benign	1 lab	24c2bc7201
14:23901681 MYH7 C>T	14	23901681	23901681	C	T	MYH7	c.530+7G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23901681C>T	(Likely) benign	1 lab	24c76a748f
16:83948686 MLYCD G>A	16	83948686	83948686	G	A	MLYCD	c.1074G>A	NM_012213.3	NP_036345.2:p.(Ser358=)	NC_000016.9:g.83948686G>A	(Likely) benign	1 lab	24cf198e38
12:21392092 SLCO1B1 C>T	12	21392092	21392092	C	T	SLCO1B1	c.2045C>T	NM_006446.5	NP_006437.3:p.(Ser682Phe)	NC_000012.11:g.21392092C>T	VUS	1 lab	24cf622bf4
1:156105026 LMNA G>C	1	156105026	156105026	G	C	LMNA	c.859G>C	NM_170707.4	NP_733821.1:p.(Ala287Pro)	NC_000001.10:g.156105026G>C	(Likely) pathogenic	1 lab	24d2721f77
1:150525425 ADAMTSL4 G>A	1	150525425	150525425	G	A	ADAMTSL4	c.130G>A	NM_019032.6	NP_061905.2:p.(Glu44Lys)	NC_000001.10:g.150525425G>A	(Likely) benign	1 lab	24d6a1b9b5
14:105173653 INF2 C>T	14	105173653	105173653	C	T	INF2	c.1049C>T	NM_001031714.4	NP_001026884.3:p.(Pro350Leu)	NC_000014.8:g.105173653C>T	(Likely) benign	1 lab	24d889231d
14:76198741 TTLL5 ATC>A	14	76198741	76198749	ATC	A	TTLL5	c.1110_1111del	NM_015072.5	NP_055887.3:p.(Pro371PhefsTer5)	NC_000014.8:g.76198748_76198749del	(Likely) pathogenic	1 lab	24dd6e44ac
7:116165144 CAV1 G>T	7	116165144	116165144	G	T	CAV1	c.28G>T	NM_001753.5	NP_001744.2:p.(Glu10Ter)	NC_000007.13:g.116165144G>T	VUS	1 lab	24e71a504d
1:1167982 B3GALT6 C>A	1	1167982	1167982	C	A	B3GALT6	c.324C>A	NM_080605.4	NP_542172.2:p.(Ala108=)	NC_000001.10:g.1167982C>A	(Likely) benign	1 lab	24e89f4e33
4:100503146 MTTP G>A	4	100503146	100503146	G	A	MTTP	c.146G>A	NM_000253.4	NP_000244.2:p.(Gly49Glu)	NC_000004.11:g.100503146G>A	(Likely) benign	1 lab	24edcf3b82
2:179475841 TTN A>G	2	179475841	179475841	A	G	TTN	c.51015T>C	NM_001267550.2	NP_001254479.2:p.(Asn17005=)	NC_000002.11:g.179475841A>G	(Likely) benign	1 lab	24f2f44e74
5:37107686 CPLANE1 C>A	5	37107686	37107686	C	A	CPLANE1	c.*18G>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37107686C>A	(Likely) benign	1 lab	24f4248488
5:95730628 PCSK1 C>T	5	95730628	95730628	C	T	PCSK1	c.1824G>A	NM_000439.5	NP_000430.3:p.(Thr608=)	NC_000005.9:g.95730628C>T	(Likely) benign	1 lab	24f60cddcf
15:85406134 ALPK3 C>T	15	85406134	85406134	C	T	ALPK3	c.4398C>T	NM_020778.5	NP_065829.4:p.(Asp1466=)	NC_000015.9:g.85406134C>T	(Likely) benign	1 lab	24f79bd840
5:109700166 MISSING Ref too long to show for this DEL>A	5	109700166	110309929	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.109700168_110309929del	VUS	1 lab	24fb20598e
3:159976427 IFT80 C>A	3	159976427	159976427	C	A	IFT80	c.1813-4G>T	NM_001190241.2	NP_001177170.1:p.?	NC_000003.11:g.159976427C>A	(Likely) benign	1 lab	24fc22ae41
4:47939404 CNGA1 G>A	4	47939404	47939404	G	A	CNGA1	c.1095C>T	NM_001142564.2	NP_001136036.2:p.(Pro365=)	NC_000004.11:g.47939404G>A	(Likely) benign	1 lab	25055eb368
11:65318705 LTBP3 G>T	11	65318705	65318705	G	T	LTBP3	c.1622-10C>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318705G>T	(Likely) benign	1 lab	2511aabacc
2:21236086 APOB G>C	2	21236086	21236086	G	C	APOB	c.4162C>G	NM_000384.3	NP_000375.3:p.(Arg1388Gly)	NC_000002.11:g.21236086G>C	(Likely) benign	1 lab	2513d1c56a
2:182438460 CERKL A>G	2	182438460	182438460	A	G	CERKL	c.613+20T>C	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182438460A>G	(Likely) benign	1 lab	2519566463
10:76602699 KAT6B TG>T	10	76602699	76602700	TG	T	KAT6B	c.85del	NM_001370137.1	NP_001357066.1:p.(Glu29LysfsTer83)	NC_000010.10:g.76602700del	VUS	1 lab	2521d3c3b6
2:179398902 TTN C>T	2	179398902	179398902	C	T	TTN	c.102440G>A	NM_001267550.2	NP_001254479.2:p.(Gly34147Asp)	NC_000002.11:g.179398902C>T	VUS	1 lab	2526372b03
16:919676 LMF1 G>A	16	919676	919676	G	A	LMF1	c.1017+207C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919676G>A	(Likely) benign	1 lab	252e65c4ec
11:47361150 MYBPC3 G>C	11	47361150	47361150	G	C	MYBPC3	c.2067+52C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361150G>C	(Likely) benign	1 lab	25384f4c31
14:75506586 MLH3 T>TATA	14	75506586	75506587	T	TATA	MLH3	c.3570+27_3570+28insTAT	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506586_75506587insATA	(Likely) benign	1 lab	253a120e61
2:44072145 ABCG8 T>G	2	44072145	44072145	T	G	ABCG8	c.165+398T>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072145T>G	(Likely) benign	1 lab	253efd59a1
5:176401547 MISSING G>Alt too long to show for this DUP	5	176401547	176468744	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.176401550_176468744dup	VUS	1 lab	2544905096
2:21234505 APOB T>G	2	21234505	21234505	T	G	APOB	c.5235A>C	NM_000384.3	NP_000375.3:p.(Ser1745=)	NC_000002.11:g.21234505T>G	(Likely) benign	1 lab	25481228f8
7:81598291 CACNA2D1 T>TA	7	81598291	81598301	T	TA	CACNA2D1	c.2309-3dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81598301dup	(Likely) benign	1 lab	2548521aeb
5:82834299 VCAN G>A	5	82834299	82834299	G	A	VCAN	c.5477G>A	NM_004385.5	NP_004376.2:p.(Arg1826His)	NC_000005.9:g.82834299G>A	(Likely) benign	1 lab	254bf9a594
17:41215804 MISSING G>Alt too long to show for this DUP	17	41215804	41521607	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.41215805_41521607dup	VUS	1 lab	254e6d5310
1:92730167 GLMN CT>C	1	92730167	92730168	CT	C	GLMN	c.1242del	NM_053274.3	NP_444504.1:p.(Gly415ValfsTer18)	NC_000001.10:g.92730168del	(Likely) pathogenic	1 lab	254feb026f
10:126686693 CTBP2 C>G	10	126686693	126686693	C	G	CTBP2	c.2025G>C	NM_022802.3	NP_073713.2:p.(Ala675=)	NC_000010.10:g.126686693C>G	(Likely) benign	1 lab	255be88f7a
3:38604102 SCN5A G>A	3	38604102	38604102	G	A	SCN5A	c.3838-74C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38604102G>A	(Likely) benign	1 lab	256386b41b
16:88793948 PIEZO1 T>G	16	88793948	88793948	T	G	PIEZO1	c.3301+17A>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793948T>G	(Likely) benign	1 lab	2564346105
16:56995914 CETP C>A	16	56995914	56995914	C	A	CETP	c.23C>A	NM_000078.3	NP_000069.2:p.(Thr8Asn)	NC_000016.9:g.56995914C>A	(Likely) benign	1 lab	256971548a
5:177031285 B4GALT7 C>T	5	177031285	177031285	C	T	B4GALT7	c.156C>T	NM_007255.3	NP_009186.1:p.(Ser52=)	NC_000005.9:g.177031285C>T	(Likely) benign	1 lab	2571981b1c
18:10705735 PIEZO2 C>T	18	10705735	10705735	C	T	PIEZO2	c.5259G>A	NM_022068.4	NP_071351.2:p.(Thr1753=)	NC_000018.9:g.10705735C>T	(Likely) benign	1 lab	2573632095
17:6380520 PITPNM3 G>A	17	6380520	6380520	G	A	PITPNM3	c.914C>T	NM_031220.4	NP_112497.2:p.(Ala305Val)	NC_000017.10:g.6380520G>A	(Likely) benign	1 lab	257406fc5f
3:37059100 MLH1 C>T	3	37059100	37059100	C	T	MLH1	c.884+10C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37059100C>T	(Likely) benign	1 lab	257d80d865
2:44072237 ABCG8 G>A	2	44072237	44072237	G	A	ABCG8	c.165+490G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072237G>A	(Likely) benign	1 lab	257e339b64
10:78709079 KCNMA1 C>A	10	78709079	78709079	C	A	KCNMA1	c.2530G>T	NM_001161352.2	NP_001154824.1:p.(Val844Phe)	NC_000010.10:g.78709079C>A	VUS	1 lab	258256f3c5
14:23858903 MYH6 G>A	14	23858903	23858903	G	A	MYH6	c.3758C>T	NM_002471.4	NP_002462.2:p.(Thr1253Met)	NC_000014.8:g.23858903G>A	VUS	1 lab	265f93527c
17:1680461 SERPINF1 ATCTC>A	17	1680461	1680469	ATCTC	A	SERPINF1	c.998-15_998-12del	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1680466_1680469del	(Likely) benign	1 lab	258d0229a8
4:104117412 CENPE AAAC>A	4	104117412	104117437	AAAC	A	CENPE	c.149-6_149-4del	NM_001813.3	NP_001804.2:p.?	NC_000004.11:g.104117435_104117437del	(Likely) benign	1 lab	2590c84235
9:137674623 COL5A1 T>G	9	137674623	137674623	T	G	COL5A1	c.2484+57T>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674623T>G	(Likely) benign	1 lab	2593adc657
7:154378887 DPP6 G>A	7	154378887	154378887	G	A	DPP6	c.*3G>A	NM_001364502.2	NP_001351431.1:p.?	NC_000007.13:g.154378887G>A	(Likely) benign	1 lab	2593ee6c9b
3:38647656 SCN5A G>T	3	38647656	38647656	G	T	SCN5A	c.1141-17C>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38647656G>T	(Likely) benign	1 lab	2595039b07
7:128491530 FLNC A>C	7	128491530	128491530	A	C	FLNC	c.5690A>C	NM_001458.5	NP_001449.3:p.(Glu1897Ala)	NC_000007.13:g.128491530A>C	VUS	1 lab	25a1e62728
4:166388825 CPE CT>C	4	166388825	166388837	CT	C	CPE	c.505-3del	NM_001873.4	NP_001864.1:p.?	NC_000004.11:g.166388837del	(Likely) benign	1 lab	25a4c71d2a
18:77488920 CTDP1 C>T	18	77488920	77488920	C	T	CTDP1	c.2431C>T	NM_004715.5	NP_004706.3:p.(Pro811Ser)	NC_000018.9:g.77488920C>T	VUS	1 lab	25ac1a9830
12:21919111 KCNJ8 C>T	12	21919111	21919111	C	T	KCNJ8	c.821G>A	NM_004982.4	NP_004973.1:p.(Arg274His)	NC_000012.11:g.21919111C>T	VUS	1 lab	25ac5cf4f8
6:152783903 SYNE1 C>T	6	152783903	152783903	C	T	SYNE1	c.2241G>A	NM_033071.4	NP_149062.2:p.(Met747Ile)	NC_000006.11:g.152783903C>T	(Likely) benign	1 lab	25af707f30
3:148858987 HPS3 C>CT	3	148858987	148859000	C	CT	HPS3	c.884+25dup	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148859000dup	(Likely) benign	1 lab	25afe0e144
2:179423066 TTN A>T	2	179423066	179423066	A	T	TTN	c.87118+2T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179423066A>T	(Likely) pathogenic	1 lab	25b197f980
5:82816190 VCAN A>G	5	82816190	82816190	A	G	VCAN	c.2065A>G	NM_004385.5	NP_004376.2:p.(Thr689Ala)	NC_000005.9:g.82816190A>G	(Likely) benign	1 lab	25b40b4e13
2:170013939 LRP2 A>G	2	170013939	170013939	A	G	LRP2	c.11961T>C	NM_004525.3	NP_004516.2:p.(Phe3987=)	NC_000002.11:g.170013939A>G	(Likely) benign	1 lab	25b5c0d72e
17:7811278 CHD3 G>T	17	7811278	7811278	G	T	CHD3	c.5270G>T	NM_001005271.3	NP_001005271.2:p.(Arg1757Leu)	NC_000017.10:g.7811278G>T	VUS	1 lab	25b9b2ff8b
9:94841852 SPTLC1 G>A	9	94841852	94841852	G	A	SPTLC1	c.427+446C>T	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94841852G>A	(Likely) benign	1 lab	25c071594f
1:180849236 XPR1 C>T	1	180849236	180849236	C	T	XPR1	c.1833C>T	NM_004736.4	NP_004727.2:p.(Arg611=)	NC_000001.10:g.180849236C>T	(Likely) benign	1 lab	25cad2207f
9:107550184 ABCA1 T>C	9	107550184	107550184	T	C	ABCA1	c.6204+17A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550184T>C	(Likely) benign	1 lab	25d3145300
12:21349862 SLCO1B1 TATAA>T	12	21349862	21349866	TATAA	T	SLCO1B1	c.728-17_728-14del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21349863_21349866del	(Likely) benign	1 lab	25d32b4cdc
11:103082595 DYNC2H1 A>G	11	103082595	103082595	A	G	DYNC2H1	c.8617A>G	NM_001080463.2	NP_001073932.1:p.(Met2873Val)	NC_000011.9:g.103082595A>G	VUS	1 lab	25d614f63d
2:179436517 TTN T>G	2	179436517	179436517	T	G	TTN	c.74342A>C	NM_001267550.2	NP_001254479.2:p.(Glu24781Ala)	NC_000002.11:g.179436517T>G	VUS	1 lab	25d9b542e6
5:110083850 SLC25A46 T>G	5	110083850	110083850	T	G	SLC25A46	c.463-14T>G	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110083850T>G	(Likely) benign	1 lab	25db610f12
2:44073356 ABCG8 A>G	2	44073356	44073356	A	G	ABCG8	c.228A>G	NM_022437.3	NP_071882.1:p.(Thr76=)	NC_000002.11:g.44073356A>G	(Likely) benign	1 lab	25e29c1641
2:179424733 TTN T>C	2	179424733	179424733	T	C	TTN	c.86126A>G	NM_001267550.2	NP_001254479.2:p.(Glu28709Gly)	NC_000002.11:g.179424733T>C	VUS	1 lab	25e74b5812
19:5692190 LONP1 G>A	19	5692190	5692190	G	A	LONP1	c.2733C>T	NM_004793.4	NP_004784.2:p.(Val911=)	NC_000019.9:g.5692190G>A	(Likely) benign	1 lab	25eb45699d
7:5352665 TNRC18 T>TGAGGAG	7	5352665	5352684	T	TGAGGAG	TNRC18	c.7851_7856dup	NM_001080495.3	NP_001073964.2:p.(Ser2670_Ser2671dup)	NC_000007.13:g.5352679_5352684dup	(Likely) benign	1 lab	25edf439cb
6:32010523 TNXB A>G	6	32010523	32010523	A	G	TNXB	c.12005T>C	NM_019105.8	NP_061978.6:p.(Met4002Thr)	NC_000006.11:g.32010523A>G	(Likely) benign	1 lab	25eff93815
8:59410018 CYP7A1 T>C	8	59410018	59410018	T	C	CYP7A1	c.322-269A>G	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59410018T>C	(Likely) benign	1 lab	25f12d75ec
3:49694086 BSN G>A	3	49694086	49694086	G	A	BSN	c.7097G>A	NM_003458.4	NP_003449.2:p.(Arg2366Gln)	NC_000003.11:g.49694086G>A	(Likely) benign	1 lab	25f9eae6eb
2:44049617 ABCG5 G>GC	2	44049617	44049626	G	GC	ABCG5	c.1463+318dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049626dup	(Likely) benign	1 lab	260260d1db
15:35083508 ACTC1 T>TCACACACA	15	35083508	35083554	T	TCACACACA	ACTC1	c.809-20_809-13dup	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083547_35083554dup	(Likely) benign	1 lab	260410b02a
6:118871300 CEP85L Ref too long to show for this DEL>T	6	118871300	118878964	Ref too long to show for this DEL	T	CEP85L	c.1020+7728_1020+15391del	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118871301_118878964del	VUS	1 lab	2606138238
2:170048556 LRP2 C>T	2	170048556	170048556	C	T	LRP2	c.8831-13G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170048556C>T	(Likely) benign	1 lab	260b1fa055
4:120107143 MYOZ2 T>A	4	120107143	120107143	T	A	MYOZ2	c.583T>A	NM_016599.5	NP_057683.1:p.(Phe195Ile)	NC_000004.11:g.120107143T>A	VUS	1 lab	260b2714a0
15:74298775 MISSING G>Alt too long to show for this DUP	15	74298775	74525970	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.74298778_74525970dup	VUS	1 lab	260c86585a
11:47365403 MYBPC3 C>A	11	47365403	47365403	C	A	MYBPC3	c.1091-228G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365403C>A	(Likely) benign	1 lab	260febc119
12:25644013 MISSING Ref too long to show for this DEL>C	12	25644013	28223420	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.25644014_28223420del	(Likely) pathogenic	1 lab	2613813f42
20:56227170 PMEPA1 G>A	20	56227170	56227170	G	A	PMEPA1	c.803C>T	NM_020182.5	NP_064567.2:p.(Pro268Leu)	NC_000020.10:g.56227170G>A	(Likely) benign	1 lab	26149eb7a8
9:139402606 NOTCH1 G>T	9	139402606	139402606	G	T	NOTCH1	c.3326-15C>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139402606G>T	(Likely) benign	1 lab	261a10690f
1:21902997 ALPL C>T	1	21902997	21902997	C	T	ALPL	c.1190-18C>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21902997C>T	(Likely) benign	1 lab	261a9900e4
3:37067095 MLH1 ATATATTTT>A	3	37067095	37067104	ATATATTTT	A	MLH1	c.1039-31_1039-24del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067097_37067104del	(Likely) benign	1 lab	261d9f423b
6:79726333 PHIP G>A	6	79726333	79726333	G	A	PHIP	c.1163C>T	NM_017934.7	NP_060404.4:p.(Thr388Ile)	NC_000006.11:g.79726333G>A	VUS	1 lab	261ef66886
16:3645724 SLX4 C>T	16	3645724	3645724	C	T	SLX4	c.1925-30G>A	NM_032444.4	NP_115820.2:p.?	NC_000016.9:g.3645724C>T	(Likely) benign	1 lab	261fce56f3
5:998759 MISSING C>Alt too long to show for this DUP	5	998759	1393592	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.998760_1393592dup	VUS	1 lab	2620e2b8d5
1:103412492 COL11A1 C>T	1	103412492	103412492	C	T	COL11A1	c.3225G>A	NM_080629.3	NP_542196.2:p.(Gly1075=)	NC_000001.10:g.103412492C>T	(Likely) benign	1 lab	262a2b94d0
15:64455123 PPIB G>T	15	64455123	64455123	G	T	PPIB	c.63C>A	NM_000942.5	NP_000933.1:p.(Ser21=)	NC_000015.9:g.64455123G>T	(Likely) benign	1 lab	262c225d14
2:182413396 CERKL A>G	2	182413396	182413396	A	G	CERKL	c.1151+11T>C	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182413396A>G	(Likely) benign	1 lab	262ea78449
11:2609948 KCNQ1 GA>G	11	2609948	2609956	GA	G	KCNQ1	c.1265del	NM_000218.3	NP_000209.2:p.(Lys422SerfsTer10)	NC_000011.9:g.2609956del	(Likely) pathogenic	1 lab	2630c623f5
6:32024328 TNXB C>T	6	32024328	32024328	C	T	TNXB	c.8143+35G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32024328C>T	(Likely) benign	1 lab	2632bd09a7
16:84075729 SLC38A8 G>T	16	84075729	84075729	G	T	SLC38A8	c.34C>A	NM_001080442.3	NP_001073911.1:p.(Pro12Thr)	NC_000016.9:g.84075729G>T	(Likely) benign	1 lab	26349bab21
2:21230751 APOB C>T	2	21230751	21230751	C	T	APOB	c.8989G>A	NM_000384.3	NP_000375.3:p.(Val2997Met)	NC_000002.11:g.21230751C>T	VUS	1 lab	263601ff6c
3:154866453 MME T>C	3	154866453	154866453	T	C	MME	c.1601+11T>C	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154866453T>C	(Likely) benign	1 lab	26376ce8a4
5:1282650 TERT C>G	5	1282650	1282650	C	G	TERT	c.1663G>C	NM_198253.3	NP_937983.2:p.(Glu555Gln)	NC_000005.9:g.1282650C>G	VUS	1 lab	263a053cf4
19:54721006 LILRB3 GTTC>G	19	54721006	54721009	GTTC	G	LILRB3	c.1900_1902del	NM_001320960.2	NP_001307889.1:p.(Glu634del)	NC_000019.9:g.54721007_54721009del	(Likely) benign	1 lab	263d58e0fc
11:102201970 BIRC3 C>CT	11	102201970	102201971	C	CT	BIRC3	c.1322_1323insT	NM_001165.5	NP_001156.1:p.(Asn442LysfsTer2)	NC_000011.9:g.102201970_102201971insT	(Likely) pathogenic	1 lab	2641f4e635
3:38888735 SCN11A G>A	3	38888735	38888735	G	A	SCN11A	c.4826C>T	NM_014139.3	NP_054858.2:p.(Thr1609Ile)	NC_000003.11:g.38888735G>A	(Likely) benign	1 lab	264225678f
22:29095806 CHEK2 G>A	22	29095806	29095806	G	A	CHEK2	c.1008+20C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29095806G>A	(Likely) benign	1 lab	2648e6a75b
1:878761 SAMD11 A>AG	1	878761	878768	A	AG	SAMD11	c.2181+11dup	NM_001385640.1	NP_001372569.1:p.?	NC_000001.10:g.878768dup	(Likely) benign	1 lab	26547401d5
2:44049977 ABCG5 G>C	2	44049977	44049977	G	C	ABCG5	c.1422C>G	NM_022436.3	NP_071881.1:p.(Phe474Leu)	NC_000002.11:g.44049977G>C	VUS	1 lab	26587f8dbf
9:101258736 GABBR2 T>C	9	101258736	101258736	T	C	GABBR2	c.691A>G	NM_005458.8	NP_005449.5:p.(Ser231Gly)	NC_000009.11:g.101258736T>C	VUS	1 lab	265b285d94
9:101900354 TGFBR1 TAGC>T	9	101900354	101900362	TAGC	T	TGFBR1	c.794_796del	NM_004612.4	NP_004603.1:p.(Ala265del)	NC_000009.11:g.101900360_101900362del	(Likely) pathogenic	1 lab	265b6d74f4
4:55984925 KDR A>G	4	55984925	55984925	A	G	KDR	c.204T>C	NM_002253.3	NP_002244.1:p.(Ser68=)	NC_000004.11:g.55984925A>G	(Likely) benign	1 lab	266155384f
5:140952996 DIAPH1 C>T	5	140952996	140952996	C	T	DIAPH1	c.2358+63G>A	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140952996C>T	(Likely) benign	1 lab	2662565caa
2:11316297 MISSING Ref too long to show for this DEL>G	2	11316297	11446604	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.11316299_11446604del	VUS	1 lab	2662f992ad
11:22232870 ANO5 G>A	11	22232870	22232870	G	A	ANO5	c.138+10G>A	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22232870G>A	(Likely) benign	1 lab	26640840cb
10:126683099 CTBP2 G>A	10	126683099	126683099	G	A	CTBP2	c.2339C>T	NM_022802.3	NP_073713.2:p.(Ser780Phe)	NC_000010.10:g.126683099G>A	(Likely) benign	1 lab	2664ea49c8
2:179610430 TTN G>A	2	179610430	179610430	G	A	TTN	c.10361-3782C>T	NM_001256850.1	NP_001243779.1:p.?	NC_000002.11:g.179610430G>A	VUS	1 lab	2665811f8a
17:75398418 SEPTIN9 G>C	17	75398418	75398418	G	C	SEPTIN9	c.300G>C	NM_006640.5	NP_006631.2:p.(Gln100His)	NC_000017.10:g.75398418G>C	VUS	1 lab	2665b5ffdb
2:179639110 TTN T>C	2	179639110	179639110	T	C	TTN	c.6881A>G	NM_001267550.2	NP_001254479.2:p.(Asn2294Ser)	NC_000002.11:g.179639110T>C	VUS	1 lab	266a7ba75b
2:44055158 ABCG5 G>C	2	44055158	44055158	G	C	ABCG5	c.598C>G	NM_022436.3	NP_071881.1:p.(Arg200Gly)	NC_000002.11:g.44055158G>C	(Likely) pathogenic	1 lab	266c6f4d75
15:67457904 SMAD3 C>T	15	67457904	67457904	C	T	SMAD3	c.532+182C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457904C>T	(Likely) benign	1 lab	266d5d7a77
11:68703917 IGHMBP2 C>T	11	68703917	68703917	C	T	IGHMBP2	c.1969C>T	NM_002180.3	NP_002171.2:p.(Gln657Ter)	NC_000011.9:g.68703917C>T	(Likely) pathogenic	1 lab	266e9514b7
18:31325878 ASXL3 T>C	18	31325878	31325878	T	C	ASXL3	c.6066T>C	NM_030632.3	NP_085135.1:p.(Pro2022=)	NC_000018.9:g.31325878T>C	(Likely) benign	1 lab	267374c5f1
8:94828644 TMEM67 A>G	8	94828644	94828644	A	G	TMEM67	c.2952A>G	NM_153704.6	NP_714915.3:p.(Ala984=)	NC_000008.10:g.94828644A>G	(Likely) benign	1 lab	26770476b4
1:66096093 LEPR T>TAA	1	66096093	66096105	T	TAA	LEPR	c.*16_*17dup	NM_001198687.2	NP_001185616.1:p.?	NC_000001.10:g.66096104_66096105dup	(Likely) benign	1 lab	267aa0525a
12:32949343 PKP2 A>G	12	32949343	32949343	A	G	PKP2	c.2168-111T>C	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32949343A>G	(Likely) benign	1 lab	267b511173
8:59404271 CYP7A1 A>G	8	59404271	59404271	A	G	CYP7A1	c.1278T>C	NM_000780.4	NP_000771.2:p.(Asn426=)	NC_000008.10:g.59404271A>G	(Likely) benign	1 lab	267c73f4ad
17:58234062 CA4 A>C	17	58234062	58234062	A	C	CA4	c.254A>C	NM_000717.5	NP_000708.1:p.(Asn85Thr)	NC_000017.10:g.58234062A>C	VUS	1 lab	26872fff1b
15:35083509 ACTC1 C>CCACACACA	15	35083509	35083510	C	CCACACACA	ACTC1	c.809-14_809-13insTGTGTGTG	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083509_35083510insCACACACA	(Likely) benign	1 lab	268f8a0b1b
5:16616864 RETREG1 C>G	5	16616864	16616864	C	G	RETREG1	c.217G>C	NM_001034850.3	NP_001030022.1:p.(Gly73Arg)	NC_000005.9:g.16616864C>G	VUS	1 lab	26921a53d0
6:126075709 HEY2 ATT>A	6	126075709	126075724	ATT	A	HEY2	c.328+31_328+32del	NM_012259.3	NP_036391.1:p.?	NC_000006.11:g.126075723_126075724del	(Likely) benign	1 lab	2692538593
9:101569998 GALNT12 G>T	9	101569998	101569998	G	T	GALNT12	c.18G>T	NM_024642.5	NP_078918.3:p.(Ala6=)	NC_000009.11:g.101569998G>T	(Likely) benign	1 lab	2693404cf7
1:78408517 NEXN ACT>A	1	78408517	78408521	ACT	A	NEXN	c.*6_*7del	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78408520_78408521del	(Likely) benign	1 lab	26934e13e0
19:11231130 LDLR C>T	19	11231130	11231130	C	T	LDLR	c.2072C>T	NM_000527.5	NP_000518.1:p.(Ser691Leu)	NC_000019.9:g.11231130C>T	VUS	1 lab	2694c8c01b
4:114278765 ANK2 C>T	4	114278765	114278765	C	T	ANK2	c.8991C>T	NM_001148.6	NP_001139.3:p.(Ser2997=)	NC_000004.11:g.114278765C>T	(Likely) benign	1 lab	2696828a2b
5:178634734 ADAMTS2 C>T	5	178634734	178634734	C	T	ADAMTS2	c.689-18G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634734C>T	(Likely) benign	1 lab	2697db4793
13:32912319 BRCA2 A>G	13	32912319	32912319	A	G	BRCA2	c.3827A>G	NM_000059.4	NP_000050.3:p.(Glu1276Gly)	NC_000013.10:g.32912319A>G	(Likely) benign	1 lab	26998073dc
14:23874991 MYH6 G>A	14	23874991	23874991	G	A	MYH6	c.202-12C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23874991G>A	(Likely) benign	1 lab	2773ccb2d9
14:78021668 SPTLC2 G>A	14	78021668	78021668	G	A	SPTLC2	c.1151C>T	NM_004863.4	NP_004854.1:p.(Ser384Phe)	NC_000014.8:g.78021668G>A	(Likely) pathogenic	1 lab	269e9fef09
8:143553681 MISSING Ref too long to show for this DEL>C	8	143553681	143744956	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.143553683_143744956del	(Likely) pathogenic	1 lab	26a0e11011
11:47354114 MYBPC3 TA>T	11	47354114	47354115	TA	T	MYBPC3	c.3627+2del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354115del	(Likely) pathogenic	1 lab	26b75dd459
4:154255971 TRIM2 T>C	4	154255971	154255971	T	C	TRIM2	c.2088T>C	NM_001130067.2	NP_001123539.1:p.(Phe696=)	NC_000004.11:g.154255971T>C	(Likely) benign	1 lab	26b9299b7b
1:236922823 ACTN2 C>CGGGGTGG	1	236922823	236922824	C	CGGGGTGG	ACTN2	c.2302-201_2302-200insGGGGTGG	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922823_236922824insGGGGTGG	(Likely) benign	1 lab	26b9d6ccac
1:12062020 MFN2 G>A	1	12062020	12062020	G	A	MFN2	c.1039-19G>A	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12062020G>A	(Likely) benign	1 lab	26c05065a2
5:148407208 SH3TC2 T>C	5	148407208	148407208	T	C	SH3TC2	c.2087A>G	NM_024577.4	NP_078853.2:p.(His696Arg)	NC_000005.9:g.148407208T>C	(Likely) benign	1 lab	26c3356a72
4:100512459 MTTP C>A	4	100512459	100512459	C	A	MTTP	c.569C>A	NM_000253.4	NP_000244.2:p.(Ala190Asp)	NC_000004.11:g.100512459C>A	VUS	1 lab	26c3e566d2
15:44165368 FRMD5 C>T	15	44165368	44165368	C	T	FRMD5	n.2961G>A	NR_104455.2		NC_000015.9:g.44165368C>T	(Likely) benign	1 lab	26c661bafe
11:5247649 HBB TAAAAG>T	11	5247649	5247657	TAAAAG	T	HBB	c.315+153_315+157del	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247653_5247657del	(Likely) pathogenic	1 lab	26c744fe7c
6:32018115 TNXB G>A	6	32018115	32018115	G	A	TNXB	c.9110-17C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32018115G>A	(Likely) benign	1 lab	26cb71d728
5:180030325 FLT4 C>T	5	180030325	180030325	C	T	FLT4	c.3959G>A	NM_182925.5	NP_891555.2:p.(Arg1320Gln)	NC_000005.9:g.180030325C>T	(Likely) benign	1 lab	26cb97aa32
2:1488595 TPO T>C	2	1488595	1488595	T	C	TPO	c.1566T>C	NM_000547.6	NP_000538.3:p.(Ala522=)	NC_000002.11:g.1488595T>C	(Likely) benign	1 lab	26d1e71b13
19:55317490 KIR2DL4 A>G	19	55317490	55317490	A	G	KIR2DL4	c.446A>G	NM_001080772.2	NP_001074241.1:p.(Gln149Arg)	NC_000019.9:g.55317490A>G	(Likely) benign	1 lab	26d65e9017
4:55964925 KDR G>A	4	55964925	55964925	G	A	KDR	c.2312C>T	NM_002253.3	NP_002244.1:p.(Thr771Met)	NC_000004.11:g.55964925G>A	(Likely) benign	1 lab	26e214021a
3:123427624 MYLK C>T	3	123427624	123427624	C	T	MYLK	c.2061G>A	NM_053025.4	NP_444253.3:p.(Pro687=)	NC_000003.11:g.123427624C>T	(Likely) benign	1 lab	26e21dcca4
5:148384473 SH3TC2 C>T	5	148384473	148384473	C	T	SH3TC2	c.3676-8G>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148384473C>T	(Likely) pathogenic	1 lab	26e80548e4
9:79936429 VPS13A G>C	9	79936429	79936429	G	C	VPS13A	c.5597G>C	NM_033305.3	NP_150648.2:p.(Gly1866Ala)	NC_000009.11:g.79936429G>C	(Likely) benign	1 lab	26e896177f
1:240371349 FMN2 A>T	1	240371349	240371349	A	T	FMN2	c.3249A>T	NM_001305424.2	NP_001292353.1:p.(Pro1083=)	NC_000001.10:g.240371349A>T	(Likely) benign	1 lab	26ecc947e0
15:58838440 LIPC T>C	15	58838440	58838440	T	C	LIPC	c.808+266T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58838440T>C	(Likely) benign	1 lab	26eda3c395
8:134274310 NDRG1 G>A	8	134274310	134274310	G	A	NDRG1	c.306C>T	NM_001135242.2	NP_001128714.1:p.(Gly102=)	NC_000008.10:g.134274310G>A	(Likely) benign	1 lab	26ef952bfd
11:121420669 SORL1 T>C	11	121420669	121420669	T	C	SORL1	c.2052T>C	NM_003105.6	NP_003096.2:p.(Cys684=)	NC_000011.9:g.121420669T>C	(Likely) benign	1 lab	26f3cdf7cf
12:110231738 TRPV4 G>A	12	110231738	110231738	G	A	TRPV4	c.1581C>T	NM_021625.5	NP_067638.3:p.(Thr527=)	NC_000012.11:g.110231738G>A	(Likely) benign	1 lab	26fa034f45
18:61346876 MISSING Ref too long to show for this DEL>A	18	61346876	61951812	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.61346877_61951812del	VUS	1 lab	26fa20df7f
2:21251362 APOB C>T	2	21251362	21251362	C	T	APOB	c.1666G>A	NM_000384.3	NP_000375.3:p.(Asp556Asn)	NC_000002.11:g.21251362C>T	VUS	1 lab	270671cb9a
1:3347587 PRDM16 G>A	1	3347587	3347587	G	A	PRDM16	c.3436G>A	NM_022114.4	NP_071397.3:p.(Ala1146Thr)	NC_000001.10:g.3347587G>A	VUS	1 lab	2710a9a57a
16:928390 LMF1 A>T	16	928390	928390	A	T	LMF1	c.498+1180T>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.928390A>T	(Likely) benign	1 lab	2712431ca0
6:16145389 MYLIP C>T	6	16145389	16145389	C	T	MYLIP	c.1089C>T	NM_013262.4	NP_037394.2:p.(Cys363=)	NC_000006.11:g.16145389C>T	(Likely) benign	1 lab	271d5d5851
19:13010643 GCDH G>T	19	13010643	13010643	G	T	GCDH	n.1986G>T	NR_102317.1		NC_000019.9:g.13010643G>T	(Likely) benign	1 lab	2720e6180b
6:7585226 DSP C>A	6	7585226	7585226	C	A	DSP	c.7731C>A	NM_004415.4	NP_004406.2:p.(Val2577=)	NC_000006.11:g.7585226C>A	(Likely) benign	1 lab	273064b1b8
10:90984623 LIPA A>G	10	90984623	90984623	A	G	LIPA	c.675+226T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90984623A>G	(Likely) benign	1 lab	2730cff518
5:110074872 SLC25A46 G>T	5	110074872	110074872	G	T	SLC25A46	c.52G>T	NM_138773.4	NP_620128.1:p.(Ala18Ser)	NC_000005.9:g.110074872G>T	(Likely) benign	1 lab	273439566a
9:95477607 BICD2 G>A	9	95477607	95477607	G	A	BICD2	c.2397C>T	NM_001003800.2	NP_001003800.1:p.(Leu799=)	NC_000009.11:g.95477607G>A	(Likely) benign	1 lab	2736aa7e8f
19:11233915 LDLR G>A	19	11233915	11233915	G	A	LDLR	c.2206G>A	NM_000527.5	NP_000518.1:p.(Val736Ile)	NC_000019.9:g.11233915G>A	(Likely) benign	1 lab	273d9a5174
1:201868770 LMOD1 G>A	1	201868770	201868770	G	A	LMOD1	c.1371C>T	NM_012134.3	NP_036266.2:p.(Ala457=)	NC_000001.10:g.201868770G>A	(Likely) benign	1 lab	273e345914
11:47368794 MYBPC3 G>A	11	47368794	47368794	G	A	MYBPC3	c.905+183C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368794G>A	(Likely) benign	1 lab	274273cae6
6:75848560 COL12A1 A>G	6	75848560	75848560	A	G	COL12A1	c.5075T>C	NM_004370.6	NP_004361.3:p.(Phe1692Ser)	NC_000006.11:g.75848560A>G	VUS	1 lab	2774c54137
2:129083119 MISSING Ref too long to show for this DEL>A	2	129083119	131317674	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.129083121_131317674del	VUS	1 lab	27466acb80
6:169640610 THBS2 A>G	6	169640610	169640610	A	G	THBS2	c.969T>C	NM_003247.5	NP_003238.2:p.(Asp323=)	NC_000006.11:g.169640610A>G	(Likely) benign	1 lab	274bce3f3f
19:11216089 LDLR C>T	19	11216089	11216089	C	T	LDLR	c.507C>T	NM_000527.5	NP_000518.1:p.(Asn169=)	NC_000019.9:g.11216089C>T	(Likely) benign	1 lab	274f0fb913
19:11240282 LDLR A>G	19	11240282	11240282	A	G	LDLR	c.2483A>G	NM_000527.5	NP_000518.1:p.(Tyr828Cys)	NC_000019.9:g.11240282A>G	(Likely) pathogenic	1 lab	274f6544b5
8:11614721 GATA4 C>T	8	11614721	11614721	C	T	GATA4	c.1149+129C>T	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11614721C>T	(Likely) benign	1 lab	2757d6043a
3:185106002 MISSING T>Alt too long to show for this DUP	3	185106002	185778205	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.185106004_185778205dup	VUS	1 lab	275afa0c91
9:101867757 TGFBR1 C>T	9	101867757	101867757	C	T	TGFBR1	c.97+173C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101867757C>T	(Likely) benign	1 lab	275b885eec
12:125292297 SCARB1 C>T	12	125292297	125292297	C	T	SCARB1	c.1009+10G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125292297C>T	(Likely) benign	1 lab	275c000b66
11:66461628 SPTBN2 G>A	11	66461628	66461628	G	A	SPTBN2	c.4485C>T	NM_006946.4	NP_008877.2:p.(Arg1495=)	NC_000011.9:g.66461628G>A	(Likely) benign	1 lab	2762444935
10:71103717 HK1 A>T	10	71103717	71103717	A	T	HK1	c.162A>T	NM_033500.2	NP_277035.2:p.(Thr54=)	NC_000010.10:g.71103717A>T	(Likely) benign	1 lab	2771962cdc
12:50499364 GPD1 G>C	12	50499364	50499364	G	C	GPD1	c.253G>C	NM_005276.4	NP_005267.2:p.(Asp85His)	NC_000012.11:g.50499364G>C	VUS	1 lab	2771e3986a
6:64430535 EYS CCTT>C	6	64430535	64430540	CCTT	C	EYS	c.9452_9454del	NM_001292009.2	NP_001278938.1:p.(Glu3151del)	NC_000006.11:g.64430538_64430540del	VUS	1 lab	2778e2f11f
11:47353752 MYBPC3 T>TGC	11	47353752	47353755	T	TGC	MYBPC3	c.3683_3684dup	NM_000256.3	NP_000247.2:p.(Met1229AlafsTer9)	NC_000011.9:g.47353754_47353755dup	(Likely) pathogenic	1 lab	2782295e7f
17:41222943 BRCA1 A>G	17	41222943	41222943	A	G	BRCA1	c.4986+2T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41222943A>G	(Likely) pathogenic	1 lab	278afbfca5
14:23900866 MYH7 G>A	14	23900866	23900866	G	A	MYH7	c.660C>T	NM_000257.4	NP_000248.2:p.(Ile220=)	NC_000014.8:g.23900866G>A	(Likely) benign	1 lab	2790ad3baa
11:66333834 CTSF G>A	11	66333834	66333834	G	A	CTSF	c.649C>T	NM_003793.4	NP_003784.2:p.(Arg217Ter)	NC_000011.9:g.66333834G>A	(Likely) pathogenic	1 lab	279a7a88b5
8:22034295 BMP1 C>T	8	22034295	22034295	C	T	BMP1	c.551+132C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22034295C>T	(Likely) benign	1 lab	279ac064d5
7:81591357 CACNA2D1 G>A	7	81591357	81591357	G	A	CACNA2D1	c.2873-18C>T	NM_001366867.1	NP_001353796.1:p.?	NC_000007.13:g.81591357G>A	(Likely) benign	1 lab	27a3cba4c2
16:53679688 RPGRIP1L G>A	16	53679688	53679688	G	A	RPGRIP1L	c.2532C>T	NM_001330538.2	NP_001317467.1:p.(Phe844=)	NC_000016.9:g.53679688G>A	(Likely) benign	1 lab	27a4dd1c28
12:50501902 GPD1 C>A	12	50501902	50501902	C	A	GPD1	c.942C>A	NM_005276.4	NP_005267.2:p.(Gly314=)	NC_000012.11:g.50501902C>A	(Likely) benign	1 lab	27aa349617
14:21861909 CHD8 C>G	14	21861909	21861909	C	G	CHD8	c.6045G>C	NM_001170629.2	NP_001164100.1:p.(Gln2015His)	NC_000014.8:g.21861909C>G	VUS	1 lab	27abdef1aa
X:73811706 RLIM C>CGGAACTGGAACTAGGACT	X	73811706	73811736	C	CGGAACTGGAACTAGGACT	RLIM	c.1426_1443dup	NM_183353.3	NP_899196.1:p.(Ser476_Ser481dup)	NC_000023.10:g.73811719_73811736dup	(Likely) benign	1 lab	27ae7707bc
19:7604940 PNPLA6 G>A	19	7604940	7604940	G	A	PNPLA6	c.577G>A	NM_001166111.2	NP_001159583.1:p.(Val193Ile)	NC_000019.9:g.7604940G>A	(Likely) pathogenic	1 lab	27b0280428
9:139390902 NOTCH1 C>G	9	139390902	139390902	C	G	NOTCH1	c.7289G>C	NM_017617.5	NP_060087.3:p.(Gly2430Ala)	NC_000009.11:g.139390902C>G	(Likely) benign	1 lab	27b2e1f408
1:156104278 LMNA A>G	1	156104278	156104278	A	G	LMNA	c.598A>G	NM_170707.4	NP_733821.1:p.(Met200Val)	NC_000001.10:g.156104278A>G	VUS	1 lab	27be4c95cd
11:1016978 MUC6 T>C	11	1016978	1016978	T	C	MUC6	c.5823A>G	NM_005961.3	NP_005952.2:p.(Lys1941=)	NC_000011.9:g.1016978T>C	(Likely) benign	1 lab	27c239b9ab
8:133980207 TG G>A	8	133980207	133980207	G	A	TG	c.5855G>A	NM_003235.5	NP_003226.4:p.(Arg1952Gln)	NC_000008.10:g.133980207G>A	(Likely) benign	1 lab	27c2984652
2:44104684 ABCG8 G>A	2	44104684	44104684	G	A	ABCG8	c.1757-16G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104684G>A	(Likely) benign	1 lab	27c445a1fe
10:73492096 C10orf105 C>G	10	73492096	73492096	C	G	C10orf105	c.-6+5389G>C	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73492096C>G	(Likely) benign	1 lab	27c566b41d
3:128526468 RAB7A A>C	3	128526468	128526468	A	C	RAB7A	c.482A>C	NM_004637.6	NP_004628.4:p.(Asn161Thr)	NC_000003.11:g.128526468A>C	(Likely) pathogenic	1 lab	27cbe1eb11
14:23893226 MYH7 C>A	14	23893226	23893226	C	A	MYH7	c.2812G>T	NM_000257.4	NP_000248.2:p.(Ala938Ser)	NC_000014.8:g.23893226C>A	VUS	1 lab	27ce2d8b5b
7:151372550 PRKAG2 T>C	7	151372550	151372550	T	C	PRKAG2	c.640A>G	NM_016203.4	NP_057287.2:p.(Arg214Gly)	NC_000007.13:g.151372550T>C	VUS	1 lab	27ce44f009
15:72021071 THSD4 T>C	15	72021071	72021071	T	C	THSD4	c.1533+8T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72021071T>C	(Likely) benign	1 lab	27cf8e86cd
12:125270811 SCARB1 G>C	12	125270811	125270811	G	C	SCARB1	c.1493C>G	NM_001367981.1	NP_001354910.1:p.(Ala498Gly)	NC_000012.11:g.125270811G>C	VUS	1 lab	27d3f41a25
1:16649243 MISSING C>Alt too long to show for this DUP	1	16649243	16706060	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.16649244_16706060dup	VUS	1 lab	27d66c89ef
13:49039118 RB1 TAC>T	13	49039118	49039120	TAC	T	RB1	c.2212-15_2212-14del	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039119_49039120del	(Likely) benign	1 lab	27d9256086
6:56481427 DST G>C	6	56481427	56481427	G	C	DST	c.6838C>G	NM_001723.7	NP_001714.1:p.(Gln2280Glu)	NC_000006.11:g.56481427G>C	VUS	1 lab	2901aac1c1
10:88459097 LDB3 G>A	10	88459097	88459097	G	A	LDB3	c.1163G>A	NM_001171611.2	NP_001165082.1:p.(Gly388Asp)	NC_000010.10:g.88459097G>A	VUS	1 lab	27d962cdfc
2:215617248 BARD1 T>C	2	215617248	215617248	T	C	BARD1	c.1600A>G	NM_000465.4	NP_000456.2:p.(Thr534Ala)	NC_000002.11:g.215617248T>C	VUS	1 lab	27dc43b643
10:121436424 BAG3 T>A	10	121436424	121436424	T	A	BAG3	c.1358T>A	NM_004281.4	NP_004272.2:p.(Met453Lys)	NC_000010.10:g.121436424T>A	VUS	1 lab	27e41c699b
16:943289 LMF1 C>T	16	943289	943289	C	T	LMF1	c.664-217G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.943289C>T	VUS	1 lab	27e989f09a
19:12697728 MISSING T>Alt too long to show for this DUP	19	12697728	13110618	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.12697729_13110618dup	VUS	1 lab	27ec1f4bf6
17:10652753 MISSING A>Alt too long to show for this DUP	17	10652753	10958693	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.10652754_10958693dup	VUS	1 lab	27ee83d6ca
9:140469020 MISSING Ref too long to show for this DEL>A	9	140469020	141102518	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.140469021_141102518del	(Likely) pathogenic	1 lab	27ef06a47e
1:33476432 AK2 A>AGGATGT	1	33476432	33476435	A	AGGATGT	AK2	c.696_697insACATCC	NM_013411.5	NP_037543.1:p.(Ter233ThrextTer2)	NC_000001.10:g.33476434_33476435insATGTGG	(Likely) benign	1 lab	27f175bd34
22:46794475 CELSR1 T>C	22	46794475	46794475	T	C	CELSR1	c.5472A>G	NM_001378328.1	NP_001365257.1:p.(Gly1824=)	NC_000022.10:g.46794475T>C	(Likely) benign	1 lab	27f3fbac46
9:79875104 VPS13A A>G	9	79875104	79875104	A	G	VPS13A	c.2391A>G	NM_033305.3	NP_150648.2:p.(Pro797=)	NC_000009.11:g.79875104A>G	(Likely) benign	1 lab	27f73e69f4
1:20295764 MISSING Ref too long to show for this DEL>T	1	20295764	20315059	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.20295765_20315059del	VUS	1 lab	27f7494e35
2:179637837 TTN T>C	2	179637837	179637837	T	C	TTN	c.7854A>G	NM_133378.4	NP_596869.4:p.(Ala2618=)	NC_000002.11:g.179637837T>C	VUS	1 lab	27fb35de90
6:7558177 DSP T>A	6	7558177	7558177	T	A	DSP	c.274-172T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558177T>A	(Likely) benign	1 lab	27fe5c0b04
9:107583638 ABCA1 C>T	9	107583638	107583638	C	T	ABCA1	c.2960+18G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107583638C>T	(Likely) benign	1 lab	2804f4bc34
16:15811188 MYH11 G>A	16	15811188	15811188	G	A	MYH11	c.5313C>T	NM_002474.3	NP_002465.1:p.(Asn1771=)	NC_000016.9:g.15811188G>A	(Likely) benign	1 lab	280b9a9848
10:90701079 ACTA2 G>C	10	90701079	90701079	G	C	ACTA2	c.523C>G	NM_001141945.2	NP_001135417.1:p.(His175Asp)	NC_000010.10:g.90701079G>C	(Likely) pathogenic	1 lab	280e18f819
2:21237966 APOB G>A	2	21237966	21237966	G	A	APOB	c.3675C>T	NM_000384.3	NP_000375.3:p.(His1225=)	NC_000002.11:g.21237966G>A	(Likely) benign	1 lab	280e71246c
14:100803423 WARS1 G>A	14	100803423	100803423	G	A	WARS1	c.1230C>T	NM_004184.4	NP_004175.2:p.(Asp410=)	NC_000014.8:g.100803423G>A	(Likely) benign	1 lab	2813553f74
1:25890190 LDLRAP1 G>A	1	25890190	25890190	G	A	LDLRAP1	c.655G>A	NM_015627.3	NP_056442.2:p.(Ala219Thr)	NC_000001.10:g.25890190G>A	VUS	1 lab	2818aa00df
9:107568503 ABCA1 C>A	9	107568503	107568503	C	A	ABCA1	c.4464+19G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568503C>A	(Likely) benign	1 lab	2819956a56
14:76241815 TTLL5 T>C	14	76241815	76241815	T	C	TTLL5	c.2137-12T>C	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76241815T>C	(Likely) benign	1 lab	281a152a93
14:89327694 TTC8 T>C	14	89327694	89327694	T	C	TTC8	c.879+18T>C	NM_001366535.2	NP_001353464.1:p.?	NC_000014.8:g.89327694T>C	(Likely) benign	1 lab	281a929e88
3:38647586 SCN5A G>A	3	38647586	38647586	G	A	SCN5A	c.1194C>T	NM_198056.3	NP_932173.1:p.(Phe398=)	NC_000003.11:g.38647586G>A	(Likely) benign	1 lab	2822aca469
3:195507011 MUC4 G>A	3	195507011	195507011	G	A	MUC4	c.11440C>T	NM_018406.7	NP_060876.5:p.(Leu3814Phe)	NC_000003.11:g.195507011G>A	(Likely) benign	1 lab	2822eaebb7
3:170216463 SLC7A14 C>G	3	170216463	170216463	C	G	SLC7A14	c.752G>C	NM_020949.3	NP_066000.2:p.(Trp251Ser)	NC_000003.11:g.170216463C>G	VUS	1 lab	2829e8f4d9
5:33947318 SLC45A2 T>G	5	33947318	33947318	T	G	SLC45A2	c.1318A>C	NM_001012509.4	NP_001012527.2:p.(Thr440Pro)	NC_000005.9:g.33947318T>G	VUS	1 lab	282de77b72
19:11227466 LDLR G>T	19	11227466	11227466	G	T	LDLR	c.1706-69G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227466G>T	(Likely) benign	1 lab	29f64d9aac
4:47896235 MISSING Ref too long to show for this DEL>T	4	47896235	48017297	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.47896236_48017297del	VUS	1 lab	283713f2a1
8:144900112 PUF60 AAC>A	8	144900112	144900116	AAC	A	PUF60	c.846_847del	NM_001362896.2	NP_001349825.1:p.(Phe283Ter)	NC_000008.10:g.144900115_144900116del	(Likely) pathogenic	1 lab	28388a1693
15:48766250 FBN1 G>A	15	48766250	48766250	G	A	FBN1	c.4210+202C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48766250G>A	(Likely) benign	1 lab	2841e4ee66
19:11240645 LDLR G>A	19	11240645	11240645	G	A	LDLR	c.2547+299G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240645G>A	(Likely) benign	1 lab	28487c6708
1:5380492 MISSING T>Alt too long to show for this DUP	1	5380492	6035054	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.5380494_6035054dup	VUS	1 lab	284a064a52
15:37387809 MEIS2 CG>C	15	37387809	37387810	CG	C	MEIS2	c.393del	NM_170677.5	NP_733777.1:p.(Ala132ProfsTer15)	NC_000015.9:g.37387810del	(Likely) pathogenic	1 lab	284b449fd8
5:52358761 ITGA2 T>TA	5	52358761	52358774	T	TA	ITGA2	c.1602+15dup	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52358774dup	(Likely) benign	1 lab	284dc46e4d
16:67974257 LCAT G>C	16	67974257	67974257	G	C	LCAT	c.873C>G	NM_000229.2	NP_000220.1:p.(Ser291=)	NC_000016.9:g.67974257G>C	(Likely) benign	1 lab	284e38c1db
14:52533442 MISSING Ref too long to show for this DEL>A	14	52533442	52558902	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.52533443_52558902del	VUS	1 lab	284f7edb3e
X:151788760 MISSING C>Alt too long to show for this DUP	X	151788760	151911486	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151788761_151911486dup	(Likely) pathogenic	1 lab	284f8a5056
19:50322482 MED25 C>G	19	50322482	50322482	C	G	MED25	c.234C>G	NM_030973.4	NP_112235.2:p.(Pro78=)	NC_000019.9:g.50322482C>G	(Likely) benign	1 lab	285068d902
8:24813446 NEFL G>A	8	24813446	24813446	G	A	NEFL	c.584C>T	NM_006158.5	NP_006149.2:p.(Ala195Val)	NC_000008.10:g.24813446G>A	(Likely) benign	1 lab	2852d40ba0
12:125298921 SCARB1 T>C	12	125298921	125298921	T	C	SCARB1	c.457A>G	NM_001367981.1	NP_001354910.1:p.(Met153Val)	NC_000012.11:g.125298921T>C	VUS	1 lab	2855b5f2ff
8:19796869 LPL C>A	8	19796869	19796869	C	A	LPL	c.-83C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796869C>A	VUS	1 lab	285d85e29c
2:179446515 TTN C>T	2	179446515	179446515	C	T	TTN	c.66480G>A	NM_001267550.2	NP_001254479.2:p.(Pro22160=)	NC_000002.11:g.179446515C>T	(Likely) benign	1 lab	285d9e3808
4:996810 IDUA G>T	4	996810	996810	G	T	IDUA	c.1403-14G>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.996810G>T	(Likely) benign	1 lab	285f0d457f
9:114762419 MISSING Ref too long to show for this DEL>A	9	114762419	114842435	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.114762420_114842435del	VUS	1 lab	286c292a67
2:1665918 PXDN CTGT>C	2	1665918	1665924	CTGT	C	PXDN	c.1603_1605del	NM_012293.3	NP_036425.1:p.(Thr535del)	NC_000002.11:g.1665922_1665924del	VUS	1 lab	286ccf7840
7:150647389 KCNH2 G>A	7	150647389	150647389	G	A	KCNH2	c.2265C>T	NM_000238.4	NP_000229.1:p.(Ala755=)	NC_000007.13:g.150647389G>A	(Likely) benign	1 lab	286cdb8e28
10:73270860 CDH23 C>T	10	73270860	73270860	C	T	CDH23	c.337-17C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73270860C>T	(Likely) benign	1 lab	286d2267fc
19:13136076 NFIX AC>A	19	13136076	13136077	AC	A	NFIX	c.294del	NM_001271043.2	NP_001257972.1:p.(Phe99SerfsTer3)	NC_000019.9:g.13136077del	(Likely) pathogenic	1 lab	287dcec835
1:156846288 NTRK1 G>C	1	156846288	156846288	G	C	NTRK1	c.1729G>C	NM_002529.3	NP_002520.2:p.(Gly577Arg)	NC_000001.10:g.156846288G>C	(Likely) pathogenic	1 lab	28841184e7
12:32735198 FGD4 G>A	12	32735198	32735198	G	A	FGD4	c.397G>A	NM_139241.3	NP_640334.2:p.(Asp133Asn)	NC_000012.11:g.32735198G>A	VUS	1 lab	28849abc07
11:118516333 PHLDB1 G>A	11	118516333	118516333	G	A	PHLDB1	c.3381G>A	NM_001144758.3	NP_001138230.1:p.(Gly1127=)	NC_000011.9:g.118516333G>A	(Likely) benign	1 lab	2892787472
7:128486030 FLNC C>T	7	128486030	128486030	C	T	FLNC	c.3791-14C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128486030C>T	(Likely) benign	1 lab	2893d38933
8:117868531 RAD21 TAAAAAAAAAAA>T	8	117868531	117868554	TAAAAAAAAAAA	T	RAD21	c.815-15_815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868544_117868554del	(Likely) benign	1 lab	289c483adb
11:5307163 MISSING T>Alt too long to show for this DUP	11	5307163	5345896	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.5307164_5345896dup	VUS	1 lab	289c540763
X:70443705 GJB1 T>C	X	70443705	70443705	T	C	GJB1	c.148T>C	NM_000166.6	NP_000157.1:p.(Ser50Pro)	NC_000023.10:g.70443705T>C	(Likely) pathogenic	1 lab	289cbed4ae
X:114863593 PLS3 T>A	X	114863593	114863593	T	A	PLS3	c.321T>A	NM_005032.7	NP_005023.2:p.(Gly107=)	NC_000023.10:g.114863593T>A	(Likely) benign	1 lab	289f81182c
1:8448177 RERE Ref too long to show for this DEL>G	1	8448177	8480151	Ref too long to show for this DEL	G	RERE	c.1284+2638_1285-22144del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8448180_8480151del	VUS	1 lab	28a071b9a7
2:241662983 KIF1A G>A	2	241662983	241662983	G	A	KIF1A	c.4319-8C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241662983G>A	(Likely) benign	1 lab	28a272ba4d
11:3838599 PGAP2 T>C	11	3838599	3838599	T	C	PGAP2	c.353T>C	NM_001256236.1	NP_001243165.1:p.(Met118Thr)	NC_000011.9:g.3838599T>C	VUS	1 lab	28a3d28aa8
9:203860 MISSING Ref too long to show for this DEL>T	9	203860	6945423	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.203861_6945423del	(Likely) pathogenic	1 lab	28a4018dcb
6:7565492 DSP T>TG	6	7565492	7565493	T	TG	DSP	c.778-100_778-99insG	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565492_7565493insG	(Likely) benign	1 lab	28a876ba57
1:27876585 AHDC1 CCCCCA>C	1	27876585	27876594	CCCCCA	C	AHDC1	c.2037_2041del	NM_001029882.3	NP_001025053.1:p.(Gly680ProfsTer12)	NC_000001.10:g.27876590_27876594del	(Likely) pathogenic	1 lab	28a9924151
16:88502746 ZNF469 C>T	16	88502746	88502746	C	T	ZNF469	c.8868C>T	NM_001367624.2	NP_001354553.1:p.(Pro2956=)	NC_000016.9:g.88502746C>T	(Likely) benign	1 lab	28aa68eedd
19:11210978 LDLR C>T	19	11210978	11210978	C	T	LDLR	c.147C>T	NM_000527.5	NP_000518.1:p.(Ser49=)	NC_000019.9:g.11210978C>T	(Likely) benign	1 lab	2b5107d1b0
7:122789517 MISSING T>Alt too long to show for this DUP	7	122789517	122883436	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.122789518_122883436dup	VUS	1 lab	28ab35acfb
12:133253953 POLE C>T	12	133253953	133253953	C	T	POLE	c.797G>A	NM_006231.4	NP_006222.2:p.(Arg266Gln)	NC_000012.11:g.133253953C>T	(Likely) benign	1 lab	28b34531aa
8:133894133 TG A>G	8	133894133	133894133	A	G	TG	c.664A>G	NM_003235.5	NP_003226.4:p.(Ser222Gly)	NC_000008.10:g.133894133A>G	VUS	1 lab	28b71633ac
16:89620186 SPG7 C>G	16	89620186	89620186	C	G	SPG7	c.1937-16C>G	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89620186C>G	(Likely) benign	1 lab	28b751b1db
4:16181283 TAPT1 A>G	4	16181283	16181283	A	G	TAPT1	c.917-3T>C	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16181283A>G	(Likely) benign	1 lab	28bc3babc9
6:110053824 FIG4 G>T	6	110053824	110053824	G	T	FIG4	c.447-16G>T	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110053824G>T	(Likely) benign	1 lab	28bfc098f0
1:243628396 SDCCAG8 Ref too long to show for this DEL>T	1	243628396	243653445	Ref too long to show for this DEL	T	SDCCAG8	c.1986-23916_2112+1003del	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243628400_243653445del	VUS	1 lab	28c6f10dc5
22:50898532 SBF1 C>T	22	50898532	50898532	C	T	SBF1	c.3340G>A	NM_002972.4	NP_002963.2:p.(Asp1114Asn)	NC_000022.10:g.50898532C>T	VUS	1 lab	28c7a616be
7:156629234 LMBR1 Ref too long to show for this DEL>C	7	156629234	156643160	Ref too long to show for this DEL	C	LMBR1	c.67-13581_139+272del	NM_022458.4	NP_071903.2:p.?	NC_000007.13:g.156629235_156643160del	VUS	1 lab	28cac36e50
8:1775793 MISSING G>Alt too long to show for this DUP	8	1775793	2324349	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1775795_2324349dup	VUS	1 lab	28cb452d4d
1:214557605 PTPN14 G>A	1	214557605	214557605	G	A	PTPN14	c.1593C>T	NM_005401.5	NP_005392.2:p.(Ser531=)	NC_000001.10:g.214557605G>A	(Likely) benign	1 lab	28cf15bcd3
21:47410169 COL6A1 CA>C	21	47410169	47410170	CA	C	COL6A1	c.931-2del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47410170del	(Likely) pathogenic	1 lab	28d0098e80
1:66102385 LEPR A>G	1	66102385	66102385	A	G	LEPR	c.3185A>G	NM_002303.6	NP_002294.2:p.(Lys1062Arg)	NC_000001.10:g.66102385A>G	(Likely) benign	1 lab	28d3c8c0c4
16:16248658 ABCC6 G>A	16	16248658	16248658	G	A	ABCC6	c.4042-7C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16248658G>A	(Likely) benign	1 lab	28d4cf4b29
1:74901744 TNNI3K T>TC	1	74901744	74901745	T	TC	TNNI3K	c.1773-20_1773-19insC	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74901744_74901745insC	(Likely) benign	1 lab	28d740dc52
17:4439683 SPNS2 G>C	17	4439683	4439683	G	C	SPNS2	c.1569G>C	NM_001124758.3	NP_001118230.1:p.(Ala523=)	NC_000017.10:g.4439683G>C	(Likely) benign	1 lab	28d913d680
11:76918426 MYO7A C>T	11	76918426	76918426	C	T	MYO7A	c.5835C>T	NM_000260.4	NP_000251.3:p.(Leu1945=)	NC_000011.9:g.76918426C>T	(Likely) benign	1 lab	28e0762ac0
9:107566949 ABCA1 G>A	9	107566949	107566949	G	A	ABCA1	c.4517C>T	NM_005502.4	NP_005493.2:p.(Ser1506Leu)	NC_000009.11:g.107566949G>A	(Likely) pathogenic	1 lab	28e19d0943
7:33140170 RP9 G>A	7	33140170	33140170	G	A	RP9	c.156C>T	NM_203288.2	NP_976033.1:p.(Tyr52=)	NC_000007.13:g.33140170G>A	(Likely) benign	1 lab	28e6aad10b
X:149434822 MISSING Ref too long to show for this DEL>G	X	149434822	150009168	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.149434824_150009168del	(Likely) pathogenic	1 lab	28e6caacc1
19:11224300 LDLR G>A	19	11224300	11224300	G	A	LDLR	c.1448G>A	NM_000527.5	NP_000518.1:p.(Trp483Ter)	NC_000019.9:g.11224300G>A	(Likely) pathogenic	1 lab	28eb7ea6f4
12:2757690 CACNA1C C>T	12	2757690	2757690	C	T	CACNA1C	c.4089+17C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2757690C>T	(Likely) benign	1 lab	28fc5ba5ef
16:87637893 JPH3 CCTG>C	16	87637893	87637935	CCTG	C	JPH3	c.470_472del	NM_001271604.4	NP_001258533.1:p.(Ala157del)	NC_000016.9:g.87637933_87637935del	(Likely) benign	1 lab	290245a978
8:133984125 TG A>G	8	133984125	133984125	A	G	TG	c.6055+7A>G	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133984125A>G	(Likely) benign	1 lab	29065e109b
2:44052039 ABCG5 A>G	2	44052039	44052039	A	G	ABCG5	c.893T>C	NM_022436.3	NP_071881.1:p.(Phe298Ser)	NC_000002.11:g.44052039A>G	VUS	1 lab	2908bf9db0
15:22770417 MISSING Ref too long to show for this DEL>T	15	22770417	23290819	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.22770422_23290819del	(Likely) pathogenic	1 lab	2910638af5
10:48382215 RBP3 C>A	10	48382215	48382215	C	A	RBP3	c.3434G>T	NM_002900.3	NP_002891.1:p.(Ser1145Ile)	NC_000010.10:g.48382215C>A	(Likely) benign	1 lab	2918adb418
7:94230114 SGCE A>AT	7	94230114	94230115	A	AT	SGCE	c.880dup	NM_001099401.2	NP_001092871.1:p.(Ile294AsnfsTer4)	NC_000007.13:g.94230115dup	(Likely) pathogenic	1 lab	29197d69fd
18:14780024 ANKRD30B T>C	18	14780024	14780024	T	C	ANKRD30B	c.1482+4T>C	NM_001367607.1	NP_001354536.1:p.?	NC_000018.9:g.14780024T>C	(Likely) benign	1 lab	29272f3ddb
2:44065769 ABCG5 A>C	2	44065769	44065769	A	C	ABCG5	c.50T>G	NM_022436.3	NP_071881.1:p.(Val17Gly)	NC_000002.11:g.44065769A>C	(Likely) benign	1 lab	29294d411d
18:34320769 FHOD3 G>A	18	34320769	34320769	G	A	FHOD3	c.3727G>A	NM_001281740.3	NP_001268669.1:p.(Ala1243Thr)	NC_000018.9:g.34320769G>A	VUS	1 lab	2940b09fa3
2:200213432 SATB2 G>A	2	200213432	200213432	G	A	SATB2	c.1165C>T	NM_001172509.2	NP_001165980.1:p.(Arg389Cys)	NC_000002.11:g.200213432G>A	(Likely) pathogenic	1 lab	29475bcb8b
8:89053621 MMP16 A>Alt too long to show for this DUP	8	89053621	89168116	A	Alt too long to show for this DUP	MMP16	c.709+11783_*67dup	NM_005941.5	NP_005932.2:p.?	NC_000008.10:g.89053623_89168116dup	VUS	1 lab	2947e2252f
1:236850113 ACTN2 C>T	1	236850113	236850113	C	T	ACTN2	c.-696+14C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236850113C>T	(Likely) benign	1 lab	294877688f
7:79724974 MISSING Ref too long to show for this DEL>G	7	79724974	79776099	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.79724975_79776099del	(Likely) pathogenic	1 lab	294ac8b7f5
10:88441339 LDB3 C>T	10	88441339	88441339	C	T	LDB3	c.468C>T	NM_001171610.2	NP_001165081.1:p.(Ala156=)	NC_000010.10:g.88441339C>T	(Likely) benign	1 lab	294bdf33fa
3:119886974 GPR156 G>T	3	119886974	119886974	G	T	GPR156	c.1350C>A	NM_153002.3	NP_694547.2:p.(Ser450=)	NC_000003.11:g.119886974G>T	(Likely) benign	1 lab	295033f95a
16:1005669 LMF1 C>A	16	1005669	1005669	C	A	LMF1	c.-361-1003G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005669C>A	(Likely) benign	1 lab	2950f9b544
19:55667990 TNNI3 G>C	19	55667990	55667990	G	C	TNNI3	c.131C>G	NM_000363.5	NP_000354.4:p.(Ser44Trp)	NC_000019.9:g.55667990G>C	VUS	1 lab	295974db9a
7:100416139 EPHB4 T>C	7	100416139	100416139	T	C	EPHB4	c.1422+3A>G	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100416139T>C	(Likely) benign	1 lab	295b025ed6
19:45452101 APOC2 G>A	19	45452101	45452101	G	A	APOC2	c.199G>A	NM_000483.5	NP_000474.2:p.(Val67Ile)	NC_000019.9:g.45452101G>A	VUS	1 lab	295d5763c4
15:45403967 DUOX2 A>G	15	45403967	45403967	A	G	DUOX2	c.512T>C	NM_014080.5	NP_054799.4:p.(Leu171Pro)	NC_000015.9:g.45403967A>G	(Likely) benign	1 lab	29c9412852
4:52895927 SGCB T>C	4	52895927	52895927	T	C	SGCB	c.346A>G	NM_000232.5	NP_000223.1:p.(Met116Val)	NC_000004.11:g.52895927T>C	(Likely) pathogenic	1 lab	295f7ea09b
16:49669557 ZNF423 T>C	16	49669557	49669557	T	C	ZNF423	c.3312+14A>G	NM_001271620.2	NP_001258549.1:p.?	NC_000016.9:g.49669557T>C	(Likely) benign	1 lab	29601c027b
2:120232876 MISSING A>Alt too long to show for this DUP	2	120232876	120474252	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.120232879_120474252dup	VUS	1 lab	2960329725
15:85383889 ALPK3 C>A	15	85383889	85383889	C	A	ALPK3	c.1379C>A	NM_020778.5	NP_065829.4:p.(Pro460His)	NC_000015.9:g.85383889C>A	VUS	1 lab	2966083475
14:77492351 IRF2BPL A>C	14	77492351	77492351	A	C	IRF2BPL	c.1785T>G	NM_024496.4	NP_078772.1:p.(Gly595=)	NC_000014.8:g.77492351A>C	(Likely) benign	1 lab	296b1c2e28
9:124423025 DAB2IP T>Alt too long to show for this DUP	9	124423025	124447524	T	Alt too long to show for this DUP	DAB2IP	c.124+8848_228+6464dup	NM_001395010.1	NP_001381939.1:p.?	NC_000009.11:g.124423026_124447524dup	VUS	1 lab	296da33c79
11:33886294 LMO2 A>G	11	33886294	33886294	A	G	LMO2	c.318T>C	NM_005574.4	NP_005565.2:p.(Ile106=)	NC_000011.9:g.33886294A>G	(Likely) benign	1 lab	296f87e991
17:9086215 NTN1 G>A	17	9086215	9086215	G	A	NTN1	c.1358-18G>A	NM_004822.3	NP_004813.2:p.?	NC_000017.10:g.9086215G>A	(Likely) benign	1 lab	2974ea56ee
18:10672851 PIEZO2 A>G	18	10672851	10672851	A	G	PIEZO2	c.7842T>C	NM_022068.4	NP_071351.2:p.(Ile2614=)	NC_000018.9:g.10672851A>G	(Likely) benign	1 lab	297a824e7e
X:70444072 GJB1 C>G	X	70444072	70444072	C	G	GJB1	c.515C>G	NM_000166.6	NP_000157.1:p.(Pro172Arg)	NC_000023.10:g.70444072C>G	(Likely) pathogenic	1 lab	298a7361be
16:89345408 ANKRD11 G>A	16	89345408	89345408	G	A	ANKRD11	c.7470+72C>T	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89345408G>A	(Likely) benign	1 lab	298c07b590
1:55518622 PCSK9 T>C	1	55518622	55518622	T	C	PCSK9	c.799+158T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518622T>C	(Likely) benign	1 lab	298f59d2e7
12:11286745 TAS2R30 A>G	12	11286745	11286745	A	G	TAS2R30	c.99T>C	NM_001097643.1	NP_001091112.1:p.(Ile33=)	NC_000012.11:g.11286745A>G	(Likely) benign	1 lab	2991cec4fe
2:179598091 TTN C>T	2	179598091	179598091	C	T	TTN	c.15929G>A	NM_001267550.2	NP_001254479.2:p.(Ser5310Asn)	NC_000002.11:g.179598091C>T	VUS	1 lab	2992e12bc5
15:48719870 FBN1 G>A	15	48719870	48719870	G	A	FBN1	c.7098C>T	NM_000138.5	NP_000129.3:p.(Asp2366=)	NC_000015.9:g.48719870G>A	(Likely) benign	1 lab	2994715fb1
1:237872230 RYR2 A>G	1	237872230	237872230	A	G	RYR2	c.9974A>G	NM_001035.3	NP_001026.2:p.(Lys3325Arg)	NC_000001.10:g.237872230A>G	VUS	1 lab	299d858535
9:711570 KANK1 C>T	9	711570	711570	C	T	KANK1	c.804C>T	NM_001256877.3	NP_001243806.1:p.(Ala268=)	NC_000009.11:g.711570C>T	(Likely) benign	1 lab	299f8300f2
18:34081902 FHOD3 A>G	18	34081902	34081902	A	G	FHOD3	c.345A>G	NM_001281740.3	NP_001268669.1:p.(Leu115=)	NC_000018.9:g.34081902A>G	(Likely) benign	1 lab	29a55fa6ed
2:44079903 ABCG8 C>T	2	44079903	44079903	C	T	ABCG8	c.860C>T	NM_022437.3	NP_071882.1:p.(Thr287Met)	NC_000002.11:g.44079903C>T	VUS	1 lab	29ab8cd056
6:112506520 LAMA4 G>A	6	112506520	112506520	G	A	LAMA4	c.996C>T	NM_001105206.3	NP_001098676.2:p.(Tyr332=)	NC_000006.11:g.112506520G>A	(Likely) benign	1 lab	29ac26fa10
4:114286333 ANK2 G>C	4	114286333	114286333	G	C	ANK2	c.11027G>C	NM_001148.6	NP_001139.3:p.(Ser3676Thr)	NC_000004.11:g.114286333G>C	VUS	1 lab	29b26d9617
15:85403113 ALPK3 G>A	15	85403113	85403113	G	A	ALPK3	c.4072G>A	NM_020778.5	NP_065829.4:p.(Asp1358Asn)	NC_000015.9:g.85403113G>A	VUS	1 lab	29c9436cc0
5:127613866 FBN2 A>AT	5	127613866	127613867	A	AT	FBN2	c.7346-170dup	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127613867dup	(Likely) benign	1 lab	29c9f63457
9:117185727 WHRN C>T	9	117185727	117185727	C	T	WHRN	c.1493G>A	NM_015404.4	NP_056219.3:p.(Arg498His)	NC_000009.11:g.117185727C>T	VUS	1 lab	29d0ffb620
12:2716131 CACNA1C C>A	12	2716131	2716131	C	A	CACNA1C	c.3270-19C>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2716131C>A	(Likely) benign	1 lab	29d1756b7c
5:138268615 CTNNA1 C>A	5	138268615	138268615	C	A	CTNNA1	c.2433+214C>A	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138268615C>A	(Likely) benign	1 lab	29d284c2bd
1:26387824 TRIM63 G>A	1	26387824	26387824	G	A	TRIM63	c.334C>T	NM_032588.4	NP_115977.2:p.(Arg112Trp)	NC_000001.10:g.26387824G>A	VUS	1 lab	29d525a2be
14:21795949 RPGRIP1 G>C	14	21795949	21795949	G	C	RPGRIP1	c.2878G>C	NM_020366.4	NP_065099.3:p.(Ala960Pro)	NC_000014.8:g.21795949G>C	(Likely) benign	1 lab	29d549f0a1
3:49043492 P4HTM C>T	3	49043492	49043492	C	T	P4HTM	c.1348-5C>T	NM_177938.2	NP_808807.2:p.?	NC_000003.11:g.49043492C>T	(Likely) benign	1 lab	29d76be490
14:78021636 SPTLC2 C>T	14	78021636	78021636	C	T	SPTLC2	c.1176+7G>A	NM_004863.4	NP_004854.1:p.?	NC_000014.8:g.78021636C>T	(Likely) benign	1 lab	29dde82946
12:21919077 KCNJ8 C>T	12	21919077	21919077	C	T	KCNJ8	c.855G>A	NM_004982.4	NP_004973.1:p.(Leu285=)	NC_000012.11:g.21919077C>T	(Likely) benign	1 lab	29df9671e9
17:1675375 SERPINF1 C>T	17	1675375	1675375	C	T	SERPINF1	c.643+6C>T	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1675375C>T	(Likely) benign	1 lab	29dfe1318f
19:11510743 RGL3 G>A	19	11510743	11510743	G	A	RGL3	c.1622C>T	NM_001161616.3	NP_001155088.2:p.(Pro541Leu)	NC_000019.9:g.11510743G>A	(Likely) benign	1 lab	29e0c41da2
2:73659438 ALMS1 T>C	2	73659438	73659438	T	C	ALMS1	c.1435+19T>C	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73659438T>C	(Likely) benign	1 lab	29e2e841c7
14:23856777 MYH6 C>T	14	23856777	23856777	C	T	MYH6	c.4611G>A	NM_002471.4	NP_002462.2:p.(Val1537=)	NC_000014.8:g.23856777C>T	(Likely) benign	1 lab	2a04c6d584
4:100534231 MTTP G>C	4	100534231	100534231	G	C	MTTP	c.2151G>C	NM_000253.4	NP_000244.2:p.(Met717Ile)	NC_000004.11:g.100534231G>C	VUS	1 lab	29e43bd0ed
8:19796688 LPL T>A	8	19796688	19796688	T	A	LPL				NC_000008.10:g.19796688T>A	VUS	1 lab	29e56a2b2e
15:78403621 CIB2 T>C	15	78403621	78403621	T	C	CIB2	c.87-1770A>G	NM_001301224.2	NP_001288153.1:p.?	NC_000015.9:g.78403621T>C	(Likely) benign	1 lab	29eccf0b3c
16:67976320 LCAT A>T	16	67976320	67976320	A	T	LCAT	c.694T>A	NM_000229.2	NP_000220.1:p.(Ser232Thr)	NC_000016.9:g.67976320A>T	(Likely) benign	1 lab	29efad9835
12:79409418 SYT1 T>Alt too long to show for this DUP	12	79409418	79477774	T	Alt too long to show for this DUP	SYT1	c.-83-31657_-18+36632dup	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79409420_79477774dup	VUS	1 lab	29f8ed710a
3:49694186 BSN G>A	3	49694186	49694186	G	A	BSN	c.7197G>A	NM_003458.4	NP_003449.2:p.(Val2399=)	NC_000003.11:g.49694186G>A	(Likely) benign	1 lab	29fd5349dc
14:97304102 VRK1 A>G	14	97304102	97304102	A	G	VRK1	c.164A>G	NM_003384.3	NP_003375.1:p.(Asp55Gly)	NC_000014.8:g.97304102A>G	VUS	1 lab	29ff1c9eff
11:116660500 APOA5 G>C	11	116660500	116660500	G	C	APOA5	c.*344C>G	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660500G>C	VUS	1 lab	2a028bced4
20:62845302 MISSING Ref too long to show for this DEL>A	20	62845302	62885575	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.62845303_62885575del	VUS	1 lab	2a0ceeaa75
15:63354458 TPM1 T>C	15	63354458	63354458	T	C	TPM1	c.684T>C	NM_001365776.1	NP_001352705.1:p.(Leu228=)	NC_000015.9:g.63354458T>C	(Likely) benign	1 lab	2a1450dd85
16:57921751 CNGB1 C>A	16	57921751	57921751	C	A	CNGB1	c.3462+8G>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57921751C>A	(Likely) benign	1 lab	2a16bb122b
8:68062186 CSPP1 T>TCTGTAA	8	68062186	68062187	T	TCTGTAA	CSPP1	c.1079-4073_1079-4072insCTGTAA	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062186_68062187insCTGTAA	(Likely) benign	1 lab	2a19b80eff
9:98003045 FANCC A>G	9	98003045	98003045	A	G	FANCC	c.251-20T>C	NM_000136.3	NP_000127.2:p.?	NC_000009.11:g.98003045A>G	(Likely) benign	1 lab	2a1a0507b4
11:2869010 KCNQ1 A>AC	11	2869010	2869012	A	AC	KCNQ1	c.1810dup	NM_000218.3	NP_000209.2:p.(Gln604ProfsTer48)	NC_000011.9:g.2869012dup	(Likely) pathogenic	1 lab	2a1be3eea0
1:237947453 RYR2 G>T	1	237947453	237947453	G	T	RYR2	c.12441G>T	NM_001035.3	NP_001026.2:p.(Arg4147Ser)	NC_000001.10:g.237947453G>T	(Likely) pathogenic	1 lab	2a2163f30c
2:179472502 TTN C>T	2	179472502	179472502	C	T	TTN	c.53002+10G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179472502C>T	(Likely) benign	1 lab	2a2b610173
1:214795606 CENPF C>T	1	214795606	214795606	C	T	CENPF	c.1050C>T	NM_016343.4	NP_057427.3:p.(Tyr350=)	NC_000001.10:g.214795606C>T	(Likely) benign	1 lab	2a2d6134df
6:79657437 PHIP A>G	6	79657437	79657437	A	G	PHIP	c.4109T>C	NM_017934.7	NP_060404.4:p.(Leu1370Ser)	NC_000006.11:g.79657437A>G	VUS	1 lab	2a342d934e
16:57015552 CETP A>G	16	57015552	57015552	A	G	CETP	c.1215-7A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015552A>G	(Likely) benign	1 lab	2a37f5125e
5:38502919 LIFR A>T	5	38502919	38502919	A	T	LIFR	c.1438-18T>A	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38502919A>T	(Likely) benign	1 lab	2a3b7eb2ce
9:137709997 COL5A1 C>T	9	137709997	137709997	C	T	COL5A1	c.4230+320C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709997C>T	(Likely) benign	1 lab	2a3bb01fef
1:161276140 MPZ G>GGCCT	1	161276140	161276141	G	GGCCT	MPZ	c.562_563insAGGC	NM_000530.8	NP_000521.2:p.(Ala188GlufsTer48)	NC_000001.10:g.161276140_161276141insGCCT	(Likely) pathogenic	1 lab	2a3d1fce57
6:32064161 TNXB C>T	6	32064161	32064161	C	T	TNXB	c.1469G>A	NM_019105.8	NP_061978.6:p.(Arg490Gln)	NC_000006.11:g.32064161C>T	(Likely) benign	1 lab	2a3dd84ca5
9:133960900 LAMC3 C>T	9	133960900	133960900	C	T	LAMC3	c.4031-11C>T	NM_006059.4	NP_006050.3:p.?	NC_000009.11:g.133960900C>T	(Likely) benign	1 lab	2a4063831c
X:119590497 LAMP2 T>C	X	119590497	119590497	T	C	LAMP2	c.183+9A>G	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119590497T>C	VUS	1 lab	2a411c7a67
10:112583189 RBM20 CTTTT>C	10	112583189	112583216	CTTTT	C	RBM20	c.3317-25_3317-22del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583213_112583216del	(Likely) benign	1 lab	2a4a5f5026
5:53751779 HSPB3 C>A	5	53751779	53751779	C	A	HSPB3	c.160C>A	NM_006308.3	NP_006299.1:p.(Pro54Thr)	NC_000005.9:g.53751779C>A	VUS	1 lab	2c2b16c5d8
19:11233969 LDLR G>A	19	11233969	11233969	G	A	LDLR	c.2260G>A	NM_000527.5	NP_000518.1:p.(Gly754Arg)	NC_000019.9:g.11233969G>A	(Likely) benign	1 lab	2a4d1fced7
2:189863265 COL3A1 A>G	2	189863265	189863265	A	G	COL3A1	c.1978-135A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863265A>G	(Likely) benign	1 lab	2a4e8269a9
6:82460045 TENT5A A>C	6	82460045	82460045	A	C	TENT5A	c.696T>G	NM_017633.3	NP_060103.2:p.(Ser232=)	NC_000006.11:g.82460045A>C	(Likely) benign	1 lab	2a4ec5ec12
2:179421815 TTN A>G	2	179421815	179421815	A	G	TTN	c.88066T>C	NM_001267550.2	NP_001254479.2:p.(Trp29356Arg)	NC_000002.11:g.179421815A>G	VUS	1 lab	2a510dd371
22:24145563 SMARCB1 G>A	22	24145563	24145563	G	A	SMARCB1	c.582G>A	NM_003073.5	NP_003064.2:p.(Glu194=)	NC_000022.10:g.24145563G>A	(Likely) benign	1 lab	2a53b59a28
12:50497826 GPD1 G>A	12	50497826	50497826	G	A	GPD1	c.-8G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50497826G>A	VUS	1 lab	2a55d7c4da
2:220083180 ABCB6 G>A	2	220083180	220083180	G	A	ABCB6	c.216C>T	NM_005689.4	NP_005680.1:p.(Pro72=)	NC_000002.11:g.220083180G>A	(Likely) benign	1 lab	2a5a7b8c50
2:21246582 APOB G>C	2	21246582	21246582	G	C	APOB	c.2437-18C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21246582G>C	(Likely) benign	1 lab	2a5a8d44c9
3:38991569 SCN11A C>CCG	3	38991569	38991571	C	CCG	SCN11A	c.267+17_267+18insCG	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991570_38991571insGC	(Likely) benign	1 lab	2a5c299d05
6:7583690 DSP G>A	6	7583690	7583690	G	A	DSP	c.6195G>A	NM_004415.4	NP_004406.2:p.(Glu2065=)	NC_000006.11:g.7583690G>A	(Likely) benign	1 lab	2a5d3bc4f2
2:179312316 PRKRA G>GTGC	2	179312316	179312317	G	GTGC	PRKRA	c.203-4_203-3insGCA	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179312316_179312317insTGC	(Likely) benign	1 lab	2a618ff1fe
16:88500348 ZNF469 G>A	16	88500348	88500348	G	A	ZNF469	c.6470G>A	NM_001367624.2	NP_001354553.1:p.(Arg2157Lys)	NC_000016.9:g.88500348G>A	(Likely) benign	1 lab	2a6471a441
9:107562283 ABCA1 T>C	9	107562283	107562283	T	C	ABCA1	c.4774-14A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562283T>C	(Likely) benign	1 lab	2a660f2386
8:145738214 RECQL4 A>G	8	145738214	145738214	A	G	RECQL4	c.2755+16T>C	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738214A>G	(Likely) benign	1 lab	2a6d12694d
6:65532542 EYS A>G	6	65532542	65532542	A	G	EYS	c.3164+2T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65532542A>G	(Likely) pathogenic	1 lab	2a6d464844
X:85282495 CHM G>T	X	85282495	85282495	G	T	CHM	c.116C>A	NM_000390.4	NP_000381.1:p.(Ser39Ter)	NC_000023.10:g.85282495G>T	(Likely) pathogenic	1 lab	2a7220960f
4:114179450 ANK2 C>T	4	114179450	114179450	C	T	ANK2	c.1339-19C>T	NM_001386174.1	NP_001373103.1:p.?	NC_000004.11:g.114179450C>T	(Likely) benign	1 lab	2a77c09e78
1:236924442 ACTN2 T>C	1	236924442	236924442	T	C	ACTN2	c.1871T>C	NM_001278344.2	NP_001265273.1:p.(Ile624Thr)	NC_000001.10:g.236924442T>C	VUS	1 lab	2a79cfce4b
6:149691158 TAB2 G>A	6	149691158	149691158	G	A	TAB2	c.25G>A	NM_001369506.1	NP_001356435.1:p.(Asp9Asn)	NC_000006.11:g.149691158G>A	VUS	1 lab	2a7ac919ed
15:83673942 MISSING Ref too long to show for this DEL>T	15	83673942	84812694	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.83673945_84812694del	(Likely) pathogenic	1 lab	2a7c4a48e0
15:31342725 TRPM1 G>T	15	31342725	31342725	G	T	TRPM1	c.1375C>A	NM_001252020.2	NP_001238949.1:p.(Pro459Thr)	NC_000015.9:g.31342725G>T	VUS	1 lab	2a7f1d2bcb
19:50775826 MYH14 G>A	19	50775826	50775826	G	A	MYH14	c.3305G>A	NM_001145809.2	NP_001139281.1:p.(Arg1102Gln)	NC_000019.9:g.50775826G>A	VUS	1 lab	2a7feaad70
19:41128415 LTBP4 G>A	19	41128415	41128415	G	A	LTBP4	c.3528G>A	NM_001042544.1	NP_001036009.1:p.(Val1176=)	NC_000019.9:g.41128415G>A	(Likely) benign	1 lab	2a811a8189
2:179440018 TTN C>G	2	179440018	179440018	C	G	TTN	c.70841G>C	NM_001267550.2	NP_001254479.2:p.(Ser23614Thr)	NC_000002.11:g.179440018C>G	VUS	1 lab	2a82bc60e7
11:116707513 APOA1 C>T	11	116707513	116707513	C	T	APOA1	c.-128+204G>A	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116707513C>T	(Likely) benign	1 lab	2a87e20b81
X:31164465 DMD C>T	X	31164465	31164465	C	T	DMD	c.10495G>A	NM_004010.3	NP_004001.1:p.(Asp3499Asn)	NC_000023.10:g.31164465C>T	VUS	1 lab	2a8ab1fcbb
X:119589195 LAMP2 TC>T	X	119589195	119589197	TC	T	LAMP2	c.397+16del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119589197del	(Likely) benign	1 lab	2a8b1426b2
12:124398913 DNAH10 G>C	12	124398913	124398913	G	C	DNAH10	c.10036G>C	NM_207437.3	NP_997320.2:p.(Val3346Leu)	NC_000012.11:g.124398913G>C	(Likely) benign	1 lab	2ade77aa99
11:68700946 IGHMBP2 T>C	11	68700946	68700946	T	C	IGHMBP2	c.1415T>C	NM_002180.3	NP_002171.2:p.(Leu472Pro)	NC_000011.9:g.68700946T>C	(Likely) pathogenic	1 lab	2a9492512d
3:119133296 ARHGAP31 C>G	3	119133296	119133296	C	G	ARHGAP31	c.2520C>G	NM_020754.4	NP_065805.2:p.(Thr840=)	NC_000003.11:g.119133296C>G	(Likely) benign	1 lab	2a96c76eb3
3:154886278 MME T>C	3	154886278	154886278	T	C	MME	c.1781-3T>C	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154886278T>C	(Likely) benign	1 lab	2a98e338ff
2:179425159 TTN A>G	2	179425159	179425159	A	G	TTN	c.85700T>C	NM_001267550.2	NP_001254479.2:p.(Met28567Thr)	NC_000002.11:g.179425159A>G	VUS	1 lab	2a9983a443
12:57928149 DCTN2 A>T	12	57928149	57928149	A	T	DCTN2	c.189T>A	NM_001348067.2	NP_001334996.1:p.(Val63=)	NC_000012.11:g.57928149A>T	(Likely) benign	1 lab	2a9b8ac855
8:8528701 MISSING T>Alt too long to show for this DUP	8	8528701	8707639	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.8528702_8707639dup	VUS	1 lab	2aa21ec610
15:51169065 MISSING T>Alt too long to show for this DUP	15	51169065	51242317	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.51169066_51242317dup	VUS	1 lab	2aa693bb36
11:65318901 LTBP3 G>A	11	65318901	65318901	G	A	LTBP3	c.1593C>T	NM_001130144.3	NP_001123616.1:p.(Ala531=)	NC_000011.9:g.65318901G>A	(Likely) benign	1 lab	2aa7723285
12:46748428 MISSING Ref too long to show for this DEL>A	12	46748428	46763597	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.46748429_46763597del	VUS	1 lab	2aaace3393
19:11223682 LDLR T>TG	19	11223682	11223683	T	TG	LDLR	c.1187-272_1187-271insG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223682_11223683insG	(Likely) benign	1 lab	2aabfe0107
11:47353157 MYBPC3 T>G	11	47353157	47353157	T	G	MYBPC3	c.*137A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353157T>G	(Likely) benign	1 lab	2ab0d89487
12:125302166 SCARB1 C>T	12	125302166	125302166	C	T	SCARB1	c.214G>A	NM_001367981.1	NP_001354910.1:p.(Val72Ile)	NC_000012.11:g.125302166C>T	VUS	1 lab	2ab16896c1
2:179397962 TTN T>C	2	179397962	179397962	T	C	TTN	c.103380A>G	NM_001267550.2	NP_001254479.2:p.(Lys34460=)	NC_000002.11:g.179397962T>C	(Likely) benign	1 lab	2b0101c5a1
9:107624330 ABCA1 T>TACACAC	9	107624330	107624357	T	TACACAC	ABCA1	c.422-255_422-250dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624352_107624357dup	(Likely) benign	1 lab	2ab37e1ef7
X:130412434 IGSF1 C>T	X	130412434	130412434	C	T	IGSF1	c.2056+1G>A	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130412434C>T	(Likely) pathogenic	1 lab	2abb3e0267
19:11216124 LDLR C>T	19	11216124	11216124	C	T	LDLR	c.542C>T	NM_000527.5	NP_000518.1:p.(Pro181Leu)	NC_000019.9:g.11216124C>T	(Likely) pathogenic	1 lab	2abee8b9bf
3:38627666 SCN5A C>CCT	3	38627666	38627667	C	CCT	SCN5A	c.2437-135_2437-134insAG	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627666_38627667insCT	(Likely) benign	1 lab	2abf6a3dff
2:48026310 MSH6 C>T	2	48026310	48026310	C	T	MSH6	c.1188C>T	NM_000179.3	NP_000170.1:p.(Leu396=)	NC_000002.11:g.48026310C>T	(Likely) benign	1 lab	2ac131a3c0
6:135749886 AHI1 C>T	6	135749886	135749886	C	T	AHI1	c.2504G>A	NM_001350503.2	NP_001337432.1:p.(Arg835Lys)	NC_000006.11:g.135749886C>T	(Likely) benign	1 lab	2ac13b885b
2:179477678 TTN C>G	2	179477678	179477678	C	G	TTN	c.49770G>C	NM_001267550.2	NP_001254479.2:p.(Met16590Ile)	NC_000002.11:g.179477678C>G	VUS	1 lab	2ac440d081
6:79679760 PHIP C>T	6	79679760	79679760	C	T	PHIP	c.3122+6G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79679760C>T	(Likely) benign	1 lab	2ac90c2b86
18:29100928 DSG2 G>T	18	29100928	29100928	G	T	DSG2	c.378+1G>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29100928G>T	(Likely) pathogenic	1 lab	2acf64081f
1:155630397 YY1AP1 T>C	1	155630397	155630397	T	C	YY1AP1	c.1718A>G	NM_001198903.1	NP_001185832.1:p.(Gln573Arg)	NC_000001.10:g.155630397T>C	(Likely) benign	1 lab	2ad1dba782
8:10466343 RP1L1 G>A	8	10466343	10466343	G	A	RP1L1	c.5265C>T	NM_178857.6	NP_849188.4:p.(Asp1755=)	NC_000008.10:g.10466343G>A	(Likely) benign	1 lab	2ad4dc7424
10:71078739 HK1 G>T	10	71078739	71078739	G	T	HK1	c.36G>T	NM_000188.3	NP_000179.2:p.(Thr12=)	NC_000010.10:g.71078739G>T	(Likely) benign	1 lab	2adc592b63
6:123581789 TRDN GAA>G	6	123581789	123581804	GAA	G	TRDN	c.1805-8_1805-7del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581803_123581804del	(Likely) benign	1 lab	2adcb9124e
9:32550817 TOPORS C>T	9	32550817	32550817	C	T	TOPORS	c.153G>A	NM_005802.5	NP_005793.2:p.(Glu51=)	NC_000009.11:g.32550817C>T	(Likely) benign	1 lab	2adf5e988f
9:101133817 GABBR2 C>T	9	101133817	101133817	C	T	GABBR2	c.1699G>A	NM_005458.8	NP_005449.5:p.(Ala567Thr)	NC_000009.11:g.101133817C>T	(Likely) pathogenic	1 lab	2adf92c148
16:16317292 ABCC6 C>CGGCA	16	16317292	16317296	C	CGGCA	ABCC6	c.-2_-1insTGCC	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16317295_16317296insAGGC	(Likely) benign	1 lab	2ae1447fb3
5:251507 SDHA T>C	5	251507	251507	T	C	SDHA	c.1718T>C	NM_004168.4	NP_004159.2:p.(Leu573Pro)	NC_000005.9:g.251507T>C	VUS	1 lab	2ae5cdca99
18:28666527 DSC2 T>TTAA	18	28666527	28666528	T	TTAA	DSC2	c.942+11_942+12insTTA	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28666527_28666528insTAA	(Likely) benign	1 lab	2ae9d76a13
19:11223831 LDLR T>C	19	11223831	11223831	T	C	LDLR	c.1187-123T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223831T>C	(Likely) benign	1 lab	2aed70fc2d
2:149094014 MBD5 Ref too long to show for this DEL>G	2	149094014	149151358	Ref too long to show for this DEL	G	MBD5	c.-679-5768_-557+51453del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149094015_149151358del	VUS	1 lab	2af03df45e
22:18721539 MISSING T>Alt too long to show for this DUP	22	18721539	18835833	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.18721541_18835833dup	(Likely) pathogenic	1 lab	2af7f65ddb
6:7568140 DSP G>T	6	7568140	7568140	G	T	DSP	c.1266+1G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568140G>T	(Likely) pathogenic	1 lab	2af82481c3
15:71447130 THSD4 A>T	15	71447130	71447130	A	T	THSD4	c.30-72A>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71447130A>T	(Likely) benign	1 lab	2afc85aa97
17:48432324 XYLT2 G>C	17	48432324	48432324	G	C	XYLT2	c.914G>C	NM_022167.4	NP_071450.2:p.(Arg305Thr)	NC_000017.10:g.48432324G>C	(Likely) benign	1 lab	2b02fa16bf
18:42531934 SETBP1 AG>A	18	42531934	42531935	AG	A	SETBP1	c.2630del	NM_015559.3	NP_056374.2:p.(Ser877ThrfsTer84)	NC_000018.9:g.42531935del	(Likely) pathogenic	1 lab	2b04eebf0a
14:56623959 MISSING T>Alt too long to show for this DUP	14	56623959	56943720	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.56623960_56943720dup	VUS	1 lab	2b07025f9e
20:3891316 PANK2 A>C	20	3891316	3891316	A	C	PANK2	c.1074A>C	NM_153638.4	NP_705902.2:p.(Ser358=)	NC_000020.10:g.3891316A>C	(Likely) benign	1 lab	2b086a543d
12:5154908 KCNA5 C>T	12	5154908	5154908	C	T	KCNA5	c.1595C>T	NM_002234.4	NP_002225.2:p.(Pro532Leu)	NC_000012.11:g.5154908C>T	(Likely) benign	1 lab	2b0c862bea
11:108106477 ATM G>A	11	108106477	108106477	G	A	ATM	c.412G>A	NM_000051.4	NP_000042.3:p.(Gly138Arg)	NC_000011.9:g.108106477G>A	VUS	1 lab	2b0eea484a
17:15142922 PMP22 A>C	17	15142922	15142922	A	C	PMP22	c.185T>G	NM_000304.4	NP_000295.1:p.(Leu62Arg)	NC_000017.10:g.15142922A>C	VUS	1 lab	2b0f9adc42
13:114322316 GRK1 G>C	13	114322316	114322316	G	C	GRK1	c.615G>C	NM_002929.3	NP_002920.1:p.(Ser205=)	NC_000013.10:g.114322316G>C	(Likely) benign	1 lab	2b12cb956a
1:74836056 TNNI3K T>C	1	74836056	74836056	T	C	TNNI3K	c.1752T>C	NM_015978.3	NP_057062.1:p.(Ile584=)	NC_000001.10:g.74836056T>C	(Likely) benign	1 lab	2b173b5e21
2:179613905 TTN C>T	2	179613905	179613905	C	T	TTN	c.13222G>A	NM_133379.5	NP_596870.2:p.(Glu4408Lys)	NC_000002.11:g.179613905C>T	VUS	1 lab	2b19132d3a
5:161569307 GABRG2 G>A	5	161569307	161569307	G	A	GABRG2	c.622G>A	NM_001375349.1	NP_001362278.1:p.(Ala208Thr)	NC_000005.9:g.161569307G>A	(Likely) pathogenic	1 lab	2b1c392da2
1:201336947 TNNT2 C>T	1	201336947	201336947	C	T	TNNT2	c.134-13G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201336947C>T	(Likely) benign	1 lab	2b1e9dcd49
15:30913572 MISSING Ref too long to show for this DEL>G	15	30913572	32914239	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.30913574_32914239del	(Likely) pathogenic	1 lab	2b2a31e194
X:153008502 ABCD1 C>T	X	153008502	153008502	C	T	ABCD1	c.1842C>T	NM_000033.4	NP_000024.2:p.(Gly614=)	NC_000023.10:g.153008502C>T	VUS	1 lab	2b2aa03658
16:68845648 CDH1 C>T	16	68845648	68845648	C	T	CDH1	c.894C>T	NM_004360.5	NP_004351.1:p.(Ala298=)	NC_000016.9:g.68845648C>T	(Likely) benign	1 lab	2b2cb447b8
3:194159705 ATP13A3 GA>G	3	194159705	194159715	GA	G	ATP13A3	c.1711-5del	NM_024524.4	NP_078800.3:p.?	NC_000003.11:g.194159715del	(Likely) benign	1 lab	2b2df9cff7
2:179417498 TTN T>C	2	179417498	179417498	T	C	TTN	c.82425A>G	NM_133378.4	NP_596869.4:p.(Thr27475=)	NC_000002.11:g.179417498T>C	(Likely) benign	1 lab	2b2ef9b450
21:47704253 MCM3AP G>C	21	47704253	47704253	G	C	MCM3AP	c.948C>G	NM_003906.5	NP_003897.2:p.(Ser316=)	NC_000021.8:g.47704253G>C	(Likely) benign	1 lab	2b3591e7ac
9:4118160 GLIS3 T>C	9	4118160	4118160	T	C	GLIS3	c.1318A>G	NM_001042413.2	NP_001035878.1:p.(Thr440Ala)	NC_000009.11:g.4118160T>C	(Likely) benign	1 lab	2b36412e89
2:121746905 GLI2 A>G	2	121746905	121746905	A	G	GLI2	c.3415A>G	NM_001371271.1	NP_001358200.1:p.(Lys1139Glu)	NC_000002.11:g.121746905A>G	VUS	1 lab	2b3ee9f968
17:1680002 SERPINF1 T>C	17	1680002	1680002	T	C	SERPINF1	c.963T>C	NM_002615.7	NP_002606.3:p.(Tyr321=)	NC_000017.10:g.1680002T>C	(Likely) benign	1 lab	2b42f58598
11:65838163 PACS1 C>T	11	65838163	65838163	C	T	PACS1	c.206C>T	NM_018026.4	NP_060496.2:p.(Ser69Phe)	NC_000011.9:g.65838163C>T	VUS	1 lab	2b44cec8fb
11:47354088 MYBPC3 G>T	11	47354088	47354088	G	T	MYBPC3	c.3627+29C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354088G>T	(Likely) benign	1 lab	2b46a20bc8
15:90192985 KIF7 C>T	15	90192985	90192985	C	T	KIF7	c.516G>A	NM_198525.3	NP_940927.2:p.(Glu172=)	NC_000015.9:g.90192985C>T	(Likely) benign	1 lab	2b4a7a8219
14:23896002 MYH7 A>G	14	23896002	23896002	A	G	MYH7	c.2028T>C	NM_000257.4	NP_000248.2:p.(Asn676=)	NC_000014.8:g.23896002A>G	(Likely) benign	1 lab	2b4de0baac
8:41812905 KAT6A CA>C	8	41812905	41812906	CA	C	KAT6A	c.1506del	NM_006766.5	NP_006757.2:p.(Asp503IlefsTer42)	NC_000008.10:g.41812906del	(Likely) pathogenic	1 lab	2b4f838c94
11:1017746 MUC6 T>G	11	1017746	1017746	T	G	MUC6	c.5055A>C	NM_005961.3	NP_005952.2:p.(Leu1685Phe)	NC_000011.9:g.1017746T>G	(Likely) benign	1 lab	2b4fb5a904
6:31324603 HLA-B CT>C	6	31324603	31324604	CT	C	HLA-B	c.204del	NM_005514.8	NP_005505.2:p.(Glu69ArgfsTer8)	NC_000006.11:g.31324604del	(Likely) benign	1 lab	2b5216c77a
1:243328208 CEP170 G>A	1	243328208	243328208	G	A	CEP170	c.3054C>T	NM_014812.3	NP_055627.2:p.(Pro1018=)	NC_000001.10:g.243328208G>A	(Likely) benign	1 lab	2b542f0b05
3:170204062 SLC7A14 G>A	3	170204062	170204062	G	A	SLC7A14	c.855C>T	NM_020949.3	NP_066000.2:p.(Ile285=)	NC_000003.11:g.170204062G>A	(Likely) benign	1 lab	2b55a13321
2:220080700 ABCB6 C>A	2	220080700	220080700	C	A	ABCB6	c.1154+19G>T	NM_005689.4	NP_005680.1:p.?	NC_000002.11:g.220080700C>A	(Likely) benign	1 lab	2b66907d4b
7:128488852 FLNC C>G	7	128488852	128488852	C	G	FLNC	c.4743C>G	NM_001458.5	NP_001449.3:p.(Pro1581=)	NC_000007.13:g.128488852C>G	(Likely) benign	1 lab	2bf652d6ae
11:59101681 MISSING Ref too long to show for this DEL>G	11	59101681	59144485	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.59101682_59144485del	VUS	1 lab	2b66c5757f
9:119858342 ASTN2 G>A	9	119858342	119858342	G	A	ASTN2	c.1104C>T	NM_014010.5	NP_054729.3:p.(Arg368=)	NC_000009.11:g.119858342G>A	(Likely) benign	1 lab	2b68cf71e4
12:21329847 SLCO1B1 G>C	12	21329847	21329847	G	C	SLCO1B1	c.481+16G>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21329847G>C	(Likely) benign	1 lab	2b698c3e1a
5:127653974 FBN2 C>G	5	127653974	127653974	C	G	FBN2	c.4595-11G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653974C>G	(Likely) benign	1 lab	2b702cda3f
1:201334807 TNNT2 G>A	1	201334807	201334807	G	A	TNNT2	c.204-9C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201334807G>A	(Likely) benign	1 lab	2b70d1e222
5:127653769 FBN2 G>A	5	127653769	127653769	G	A	FBN2	c.4717+72C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653769G>A	(Likely) benign	1 lab	2b73f3268f
1:161276525 MPZ G>A	1	161276525	161276525	G	A	MPZ	c.421C>T	NM_000530.8	NP_000521.2:p.(Gln141Ter)	NC_000001.10:g.161276525G>A	(Likely) pathogenic	1 lab	2b77ab2334
9:34372873 MYORG C>G	9	34372873	34372873	C	G	MYORG	c.69=	NM_020702.5	NP_065753.2:p.(Tyr23=)	NC_000009.11:g.34372873C>G	(Likely) benign	1 lab	2b7a9a600d
2:219503472 ZNF142 GCAGTGCAT>G	2	219503472	219503483	GCAGTGCAT	G	ZNF142	c.5246_5253del	NM_001366290.3	NP_001353219.1:p.(Asp1749AlafsTer17)	NC_000002.11:g.219503476_219503483del	VUS	1 lab	2b7dfc23be
11:116661041 APOA5 C>T	11	116661041	116661041	C	T	APOA5	c.904G>A	NM_052968.5	NP_443200.2:p.(Ala302Thr)	NC_000011.9:g.116661041C>T	VUS	1 lab	2b7f3e8967
2:189868861 COL3A1 G>A	2	189868861	189868861	G	A	COL3A1	c.2815G>A	NM_000090.4	NP_000081.2:p.(Gly939Ser)	NC_000002.11:g.189868861G>A	(Likely) pathogenic	1 lab	2b863dc8d8
15:45408723 DUOXA2 T>C	15	45408723	45408723	T	C	DUOXA2	c.350T>C	NM_207581.4	NP_997464.2:p.(Val117Ala)	NC_000015.9:g.45408723T>C	VUS	1 lab	2b87b31e1b
20:42788999 JPH2 ACT>A	20	42788999	42789002	ACT	A	JPH2	c.426_427del	NM_020433.5	NP_065166.2:p.(Val143ThrfsTer98)	NC_000020.10:g.42789001_42789002del	(Likely) pathogenic	1 lab	2b8a0f78d8
19:55239223 KIR3DL3 G>A	19	55239223	55239223	G	A	KIR3DL3	c.502G>A	NM_153443.4	NP_703144.3:p.(Val168Ile)	NC_000019.9:g.55239223G>A	(Likely) benign	1 lab	2b8bab3cf7
8:14160454 MISSING Ref too long to show for this DEL>T	8	14160454	16385033	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.14160455_16385033del	VUS	1 lab	2b90fc245b
3:167414818 PDCD10 TAC>T	3	167414818	167414820	TAC	T	PDCD10	c.245_246del	NM_007217.4	NP_009148.2:p.(Arg82HisfsTer4)	NC_000003.11:g.167414819_167414820del	(Likely) pathogenic	1 lab	2b92117114
7:104753240 KMT2E A>C	7	104753240	104753240	A	C	KMT2E	c.5037A>C	NM_182931.3	NP_891847.1:p.(Pro1679=)	NC_000007.13:g.104753240A>C	(Likely) benign	1 lab	2b93850f73
9:107593374 ABCA1 T>C	9	107593374	107593374	T	C	ABCA1	c.1724A>G	NM_005502.4	NP_005493.2:p.(Asp575Gly)	NC_000009.11:g.107593374T>C	VUS	1 lab	2b94388504
8:144297219 GPIHBP1 C>T	8	144297219	144297219	C	T	GPIHBP1	c.381C>T	NM_178172.6	NP_835466.2:p.(Thr127=)	NC_000008.10:g.144297219C>T	(Likely) benign	1 lab	2b966c91e9
15:85401131 ALPK3 C>T	15	85401131	85401131	C	T	ALPK3	c.3162C>T	NM_020778.5	NP_065829.4:p.(Ala1054=)	NC_000015.9:g.85401131C>T	(Likely) benign	1 lab	2b9788a63e
11:27679473 BDNF C>T	11	27679473	27679473	C	T	BDNF	c.639G>A	NM_001709.5	NP_001700.2:p.(Ser213=)	NC_000011.9:g.27679473C>T	(Likely) benign	1 lab	2b9a602da9
1:1447756 ATAD3A G>T	1	1447756	1447756	G	T	ATAD3A	c.108G>T	NM_018188.5	NP_060658.3:p.(Gly36=)	NC_000001.10:g.1447756G>T	(Likely) benign	1 lab	2b9e3706c2
8:144296928 GPIHBP1 C>T	8	144296928	144296928	C	T	GPIHBP1	c.222C>T	NM_178172.6	NP_835466.2:p.(Asp74=)	NC_000008.10:g.144296928C>T	(Likely) benign	1 lab	2b9fcb8aa2
11:12904559 TEAD1 G>T	11	12904559	12904559	G	T	TEAD1	c.586G>T	NM_021961.6	NP_068780.2:p.(Ala196Ser)	NC_000011.9:g.12904559G>T	(Likely) benign	1 lab	2ba3db6c9f
7:128492892 FLNC C>T	7	128492892	128492892	C	T	FLNC	c.6015C>T	NM_001458.5	NP_001449.3:p.(Phe2005=)	NC_000007.13:g.128492892C>T	(Likely) benign	1 lab	2bab39d283
9:35714697 TLN1 A>T	9	35714697	35714697	A	T	TLN1	c.2872-13T>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35714697A>T	(Likely) benign	1 lab	2bb5837631
17:44064413 MAPT G>C	17	44064413	44064413	G	C	MAPT	c.381G>C	NM_005910.6	NP_005901.2:p.(Met127Ile)	NC_000017.10:g.44064413G>C	(Likely) benign	1 lab	2bb72f260b
3:53033135 SFMBT1 Ref too long to show for this DEL>A	3	53033135	53041332	Ref too long to show for this DEL	A	SFMBT1	c.-130-38057_-130-29862del	NM_016329.4	NP_057413.2:p.?	NC_000003.11:g.53033137_53041332del	(Likely) benign	1 lab	2bb852593a
X:152771618 MISSING A>Alt too long to show for this DUP	X	152771618	152895818	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152771619_152895818dup	VUS	1 lab	2bbd8ef5a3
1:237730024 RYR2 G>A	1	237730024	237730024	G	A	RYR2	c.3372G>A	NM_001035.3	NP_001026.2:p.(Pro1124=)	NC_000001.10:g.237730024G>A	(Likely) benign	1 lab	2bbe995a25
2:179469738 TTN G>A	2	179469738	179469738	G	A	TTN	c.54166C>T	NM_001267550.2	NP_001254479.2:p.(Arg18056Ter)	NC_000002.11:g.179469738G>A	(Likely) pathogenic	1 lab	2bc199d045
2:48601249 MISSING Ref too long to show for this DEL>A	2	48601249	48637496	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.48601250_48637496del	VUS	1 lab	2bc372e232
9:107459904 MISSING Ref too long to show for this DEL>C	9	107459904	107545550	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.107459905_107545550del	VUS	1 lab	2bc3a338a1
4:661719 PDE6B G>A	4	661719	661719	G	A	PDE6B	c.2427G>A	NM_000283.4	NP_000274.3:p.(Ala809=)	NC_000004.11:g.661719G>A	(Likely) benign	1 lab	2bc75b5fd3
7:30639656 GARS1 A>G	7	30639656	30639656	A	G	GARS1	c.418A>G	NM_002047.4	NP_002038.2:p.(Ile140Val)	NC_000007.13:g.30639656A>G	VUS	1 lab	2bc7b466d7
13:110831288 COL4A1 C>T	13	110831288	110831288	C	T	COL4A1	c.2440G>A	NM_001845.6	NP_001836.3:p.(Gly814Arg)	NC_000013.10:g.110831288C>T	(Likely) pathogenic	1 lab	2bc861c731
7:151573717 PRKAG2 G>C	7	151573717	151573717	G	C	PRKAG2	c.-12C>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151573717G>C	(Likely) benign	1 lab	2bcb9d2171
11:68115352 LRP5 A>T	11	68115352	68115352	A	T	LRP5	c.129A>T	NM_002335.4	NP_002326.2:p.(Val43=)	NC_000011.9:g.68115352A>T	(Likely) benign	1 lab	2bcff4fe90
6:65301879 EYS G>C	6	65301879	65301879	G	C	EYS	c.3881C>G	NM_001292009.2	NP_001278938.1:p.(Pro1294Arg)	NC_000006.11:g.65301879G>C	VUS	1 lab	2bd5156120
2:21246445 APOB T>G	2	21246445	21246445	T	G	APOB	c.2556A>C	NM_000384.3	NP_000375.3:p.(Gly852=)	NC_000002.11:g.21246445T>G	(Likely) benign	1 lab	2bd7a0f92e
19:11221180 LDLR A>G	19	11221180	11221180	A	G	LDLR	c.941-148A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221180A>G	(Likely) benign	1 lab	2bda6d79a8
6:32552057 HLA-DRB1 C>G	6	32552057	32552057	C	G	HLA-DRB1	c.199G>C	NM_002124.4	NP_002115.2:p.(Val67Leu)	NC_000006.11:g.32552057C>G	(Likely) benign	1 lab	2bdac0ae37
6:152712715 SYNE1 G>GA	6	152712715	152712729	G	GA	SYNE1	c.7713-13dup	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152712729dup	(Likely) benign	1 lab	2bdd2a143b
1:20972340 PINK1 G>A	1	20972340	20972340	G	A	PINK1	c.1123+124G>A	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20972340G>A	(Likely) benign	1 lab	2be60135bd
1:116269732 CASQ2 T>G	1	116269732	116269732	T	G	CASQ2	c.618A>C	NM_001232.4	NP_001223.2:p.(Lys206Asn)	NC_000001.10:g.116269732T>G	VUS	1 lab	2be711c758
9:107557865 ABCA1 A>G	9	107557865	107557865	A	G	ABCA1	c.5382+469T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107557865A>G	(Likely) benign	1 lab	2be9a9b1ca
2:21247909 APOB G>A	2	21247909	21247909	G	A	APOB	c.2332C>T	NM_000384.3	NP_000375.3:p.(Arg778Cys)	NC_000002.11:g.21247909G>A	VUS	1 lab	2c2b38ed63
9:107558370 ABCA1 G>A	9	107558370	107558370	G	A	ABCA1	c.5346C>T	NM_005502.4	NP_005493.2:p.(Ser1782=)	NC_000009.11:g.107558370G>A	(Likely) benign	1 lab	2bf972b5ee
19:11210982 LDLR G>A	19	11210982	11210982	G	A	LDLR	c.151G>A	NM_000527.5	NP_000518.1:p.(Glu51Lys)	NC_000019.9:g.11210982G>A	VUS	1 lab	2bf9bec06e
12:69756560 YEATS4 T>Alt too long to show for this DUP	12	69756560	69827398	T	Alt too long to show for this DUP	YEATS4				NC_000012.11:g.69756561_69827398dup	VUS	1 lab	2c08da4267
1:182787675 NPL G>A	1	182787675	182787675	G	A	NPL	c.458-1G>A	NM_030769.3	NP_110396.1:p.?	NC_000001.10:g.182787675G>A	VUS	1 lab	2c0d780361
10:73768217 CHST3 C>T	10	73768217	73768217	C	T	CHST3	c.1428C>T	NM_004273.5	NP_004264.2:p.(Phe476=)	NC_000010.10:g.73768217C>T	(Likely) benign	1 lab	2c16f76cda
17:41203106 BRCA1 T>C	17	41203106	41203106	T	C	BRCA1	c.5306A>G	NM_007294.4	NP_009225.1:p.(Tyr1769Cys)	NC_000017.10:g.41203106T>C	(Likely) benign	1 lab	2c1823c531
2:112705040 MERTK G>C	2	112705040	112705040	G	C	MERTK	c.653G>C	NM_006343.3	NP_006334.2:p.(Cys218Ser)	NC_000002.11:g.112705040G>C	VUS	1 lab	2c1b41288d
10:92678744 ANKRD1 A>ATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATAT	(Likely) benign	1 lab	2c25fd5fbd
14:31589034 HECTD1 T>A	14	31589034	31589034	T	A	HECTD1	c.5277A>T	NM_015382.4	NP_056197.3:p.(Arg1759Ser)	NC_000014.8:g.31589034T>A	VUS	1 lab	2c26d77e69
7:128487713 FLNC G>A	7	128487713	128487713	G	A	FLNC	c.4289-38G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487713G>A	(Likely) benign	1 lab	2c2a15e6d0
15:28518112 HERC2 C>A	15	28518112	28518112	C	A	HERC2	c.839G>T	NM_004667.6	NP_004658.3:p.(Ser280Ile)	NC_000015.9:g.28518112C>A	(Likely) benign	1 lab	2c2c15212d
12:133220444 POLE G>A	12	133220444	133220444	G	A	POLE	c.4269C>T	NM_006231.4	NP_006222.2:p.(Ile1423=)	NC_000012.11:g.133220444G>A	(Likely) benign	1 lab	2c2df34ee5
2:21227275 APOB C>T	2	21227275	21227275	C	T	APOB	c.11953G>A	NM_000384.3	NP_000375.3:p.(Asp3985Asn)	NC_000002.11:g.21227275C>T	(Likely) pathogenic	1 lab	2c31185e81
2:203420123 BMPR2 A>G	2	203420123	203420123	A	G	BMPR2	c.1735A>G	NM_001204.7	NP_001195.2:p.(Ile579Val)	NC_000002.11:g.203420123A>G	(Likely) benign	1 lab	2c32263562
10:69955190 MYPN C>T	10	69955190	69955190	C	T	MYPN	c.3076-17C>T	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69955190C>T	(Likely) benign	1 lab	2c32fb80b4
20:46164979 NCOA3 Ref too long to show for this DEL>T	20	46164979	46243633	Ref too long to show for this DEL	T	NCOA3	c.-99+34217_-19-7340del	NM_181659.3	NP_858045.1:p.?	NC_000020.10:g.46164980_46243633del	VUS	1 lab	2c339b2d09
1:174234363 RABGAP1L G>Alt too long to show for this DUP	1	174234363	174485297	G	Alt too long to show for this DUP	RABGAP1L	c.987-7186_1711-121216dup	NM_001366446.1	NP_001353375.1:p.?	NC_000001.10:g.174234366_174485297dup	VUS	1 lab	2c35a44457
7:128494054 FLNC C>T	7	128494054	128494054	C	T	FLNC	c.6511C>T	NM_001458.5	NP_001449.3:p.(Gln2171Ter)	NC_000007.13:g.128494054C>T	(Likely) pathogenic	1 lab	2c3be0537a
17:1554188 PRPF8 GGTA>G	17	1554188	1554192	GGTA	G	PRPF8	c.6913_6915del	NM_006445.4	NP_006436.3:p.(Tyr2305del)	NC_000017.10:g.1554190_1554192del	VUS	1 lab	2c3e8d854a
3:38639386 SCN5A C>A	3	38639386	38639386	C	A	SCN5A	c.2096G>T	NM_198056.3	NP_932173.1:p.(Cys699Phe)	NC_000003.11:g.38639386C>A	VUS	1 lab	2c4292d437
8:59410911 CYP7A1 A>T	8	59410911	59410911	A	T	CYP7A1	c.198T>A	NM_000780.4	NP_000771.2:p.(Val66=)	NC_000008.10:g.59410911A>T	(Likely) benign	1 lab	2c476f5e4d
9:107607817 ABCA1 T>C	9	107607817	107607817	T	C	ABCA1	c.754A>G	NM_005502.4	NP_005493.2:p.(Lys252Glu)	NC_000009.11:g.107607817T>C	(Likely) benign	1 lab	2c4b1bea20
2:200684249 FTCDNL1 TA>T	2	200684249	200684265	TA	T	FTCDNL1	c.442del	NM_001350853.2	NP_001337782.1:p.(Ter148LysextTer17)	NC_000002.11:g.200684265del	(Likely) benign	1 lab	2c4cc9f497
3:132173004 DNAJC13 AT>A	3	132173004	132173017	AT	A	DNAJC13	c.932+16del	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132173017del	(Likely) benign	1 lab	2c522438d2
1:63063377 ANGPTL3 C>G	1	63063377	63063377	C	G	ANGPTL3	c.140C>G	NM_014495.4	NP_055310.1:p.(Ala47Gly)	NC_000001.10:g.63063377C>G	VUS	1 lab	2c52cbfd33
8:134262695 NDRG1 T>C	8	134262695	134262695	T	C	NDRG1	c.686A>G	NM_001135242.2	NP_001128714.1:p.(Asn229Ser)	NC_000008.10:g.134262695T>C	(Likely) benign	1 lab	2c534a51c1
X:99551700 PCDH19 AG>A	X	99551700	99551701	AG	A	PCDH19	c.3021del	NM_001184880.2	NP_001171809.1:p.(Cys1008AlafsTer26)	NC_000023.10:g.99551701del	VUS	1 lab	2c541d360a
16:961054 LMF1 C>T	16	961054	961054	C	T	LMF1	c.141G>A	NM_001352018.2	NP_001338947.1:p.(Thr47=)	NC_000016.9:g.961054C>T	(Likely) benign	1 lab	2c641b1cc6
11:47373008 MYBPC3 C>T	11	47373008	47373008	C	T	MYBPC3	c.74G>A	NM_000256.3	NP_000247.2:p.(Ser25Asn)	NC_000011.9:g.47373008C>T	VUS	1 lab	2c691fec8f
10:53921655 PRKG1 T>C	10	53921655	53921655	T	C	PRKG1	c.963T>C	NM_001098512.3	NP_001091982.1:p.(Phe321=)	NC_000010.10:g.53921655T>C	(Likely) benign	1 lab	2c6b07fb69
14:68151724 RDH11 A>T	14	68151724	68151724	A	T	RDH11	c.854+8T>A	NM_016026.4	NP_057110.3:p.?	NC_000014.8:g.68151724A>T	(Likely) benign	1 lab	2c6b1795bd
6:32009301 TNXB A>G	6	32009301	32009301	A	G	TNXB	c.12628-74T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009301A>G	(Likely) benign	1 lab	2c6b799556
16:776308 CCDC78 A>G	16	776308	776308	A	G	CCDC78	c.60T>C	NM_001031737.3	NP_001026907.2:p.(Asn20=)	NC_000016.9:g.776308A>G	(Likely) benign	1 lab	2c7354eb74
6:112462026 LAMA4 G>A	6	112462026	112462026	G	A	LAMA4	c.2912C>T	NM_001105206.3	NP_001098676.2:p.(Ser971Phe)	NC_000006.11:g.112462026G>A	VUS	1 lab	2c73ba3d24
15:48891995 FBN1 G>A	15	48891995	48891995	G	A	FBN1	c.442+341C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48891995G>A	(Likely) benign	1 lab	2c73d196de
15:58837722 LIPC G>A	15	58837722	58837722	G	A	LIPC	c.575-219G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837722G>A	(Likely) benign	1 lab	2c73ec85f9
11:119210284 C1QTNF5 G>T	11	119210284	119210284	G	T	C1QTNF5	c.489C>A	NM_015645.5	NP_056460.1:p.(Ser163Arg)	NC_000011.9:g.119210284G>T	(Likely) pathogenic	1 lab	2c74ad7f05
2:21227214 APOB G>C	2	21227214	21227214	G	C	APOB	c.12014C>G	NM_000384.3	NP_000375.3:p.(Ala4005Gly)	NC_000002.11:g.21227214G>C	VUS	1 lab	2c74cdcb67
X:153496198 OPN1MW2 T>A	X	153496198	153496198	T	A	OPN1MW2	c.926T>A	NM_001048181.2	NP_001041646.1:p.(Phe309Tyr)	NC_000023.10:g.153496198T>A	(Likely) benign	1 lab	2c75569612
3:9488924 SETD5 C>A	3	9488924	9488924	C	A	SETD5	c.1421C>A	NM_001349451.2	NP_001336380.1:p.(Ser474Ter)	NC_000003.11:g.9488924C>A	(Likely) pathogenic	1 lab	2c758b14e0
12:13768104 GRIN2B C>A	12	13768104	13768104	C	A	GRIN2B	c.1598G>T	NM_000834.5	NP_000825.2:p.(Gly533Val)	NC_000012.11:g.13768104C>A	(Likely) pathogenic	1 lab	2c77271617
3:128531870 RAB7A A>G	3	128531870	128531870	A	G	RAB7A	c.529-300A>G	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128531870A>G	(Likely) benign	1 lab	2c7b131f3c
16:929557 LMF1 G>A	16	929557	929557	G	A	LMF1	c.897+13C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929557G>A	(Likely) benign	1 lab	2c7bbafe19
18:45394790 SMAD2 G>T	18	45394790	45394790	G	T	SMAD2	c.559C>A	NM_001003652.4	NP_001003652.1:p.(Leu187Ile)	NC_000018.9:g.45394790G>T	VUS	1 lab	2c7c7bc6ea
4:106320201 PPA2 T>C	4	106320201	106320201	T	C	PPA2	c.776A>G	NM_176869.3	NP_789845.1:p.(Lys259Arg)	NC_000004.11:g.106320201T>C	VUS	1 lab	2c85b6a519
8:22064347 BMP1 C>T	8	22064347	22064347	C	T	BMP1	c.2234-20C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22064347C>T	(Likely) benign	1 lab	2fb7e2b14f
11:47365172 MYBPC3 A>G	11	47365172	47365172	A	G	MYBPC3	c.1094T>C	NM_000256.3	NP_000247.2:p.(Phe365Ser)	NC_000011.9:g.47365172A>G	VUS	1 lab	2c8b1f8a77
8:10468854 RP1L1 C>T	8	10468854	10468854	C	T	RP1L1	c.2754G>A	NM_178857.6	NP_849188.4:p.(Gly918=)	NC_000008.10:g.10468854C>T	(Likely) benign	1 lab	2c8d229ac0
4:148744062 ARHGAP10 Ref too long to show for this DEL>A	4	148744062	148787970	Ref too long to show for this DEL	A	ARHGAP10	c.268_702+3del	NM_024605.4	NP_078881.3:p.?	NC_000004.11:g.148744064_148787970del	VUS	1 lab	2c8e96c6c3
6:7542371 DSP A>G	6	7542371	7542371	A	G	DSP	c.170+53A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7542371A>G	(Likely) benign	1 lab	2c8f5d6a29
8:19817260 LPL G>A	8	19817260	19817260	G	A	LPL	c.1139+369G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817260G>A	(Likely) benign	1 lab	2c97a197a1
1:197326115 CRB1 T>C	1	197326115	197326115	T	C	CRB1	c.936T>C	NM_001257965.2	NP_001244894.1:p.(Tyr312=)	NC_000001.10:g.197326115T>C	(Likely) benign	1 lab	2c999d4830
15:58840591 LIPC C>A	15	58840591	58840591	C	A	LIPC	c.871C>A	NM_000236.3	NP_000227.2:p.(Leu291Met)	NC_000015.9:g.58840591C>A	VUS	1 lab	2c9d5690f8
16:57992368 CNGB1 G>A	16	57992368	57992368	G	A	CNGB1	c.783C>T	NM_001297.5	NP_001288.3:p.(His261=)	NC_000016.9:g.57992368G>A	(Likely) benign	1 lab	2ca25b8c69
12:110240929 TRPV4 G>A	12	110240929	110240929	G	A	TRPV4	c.579C>T	NM_021625.5	NP_067638.3:p.(Thr193=)	NC_000012.11:g.110240929G>A	(Likely) benign	1 lab	2ca537b8de
2:47703705 MSH2 C>T	2	47703705	47703705	C	T	MSH2	c.2205C>T	NM_000251.3	NP_000242.1:p.(Ile735=)	NC_000002.11:g.47703705C>T	(Likely) benign	1 lab	2ca5eec2f6
17:75471768 SEPTIN9 C>T	17	75471768	75471768	C	T	SEPTIN9	c.-250C>T	NM_001113495.2	NP_001106967.2:p.?	NC_000017.10:g.75471768C>T	(Likely) benign	1 lab	2cfac2ed44
X:114863570 PLS3 A>G	X	114863570	114863570	A	G	PLS3	c.298A>G	NM_005032.7	NP_005023.2:p.(Lys100Glu)	NC_000023.10:g.114863570A>G	(Likely) pathogenic	1 lab	2ca92e954d
6:56417825 DST G>A	6	56417825	56417825	G	A	DST	c.9408C>T	NM_001144769.5	NP_001138241.1:p.(Asp3136=)	NC_000006.11:g.56417825G>A	(Likely) benign	1 lab	2cac6bc9d4
1:186113330 HMCN1 G>C	1	186113330	186113330	G	C	HMCN1	c.13950G>C	NM_031935.3	NP_114141.2:p.(Gln4650His)	NC_000001.10:g.186113330G>C	(Likely) benign	1 lab	2cc81b496e
6:35471326 TULP1 C>T	6	35471326	35471326	C	T	TULP1	c.1323+10G>A	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35471326C>T	(Likely) benign	1 lab	2ccc0a66a9
15:85411629 ALPK3 A>C	15	85411629	85411629	A	C	ALPK3	c.5060A>C	NM_020778.5	NP_065829.4:p.(Gln1687Pro)	NC_000015.9:g.85411629A>C	VUS	1 lab	2ccca0618f
1:51355792 FAF1 Ref too long to show for this DEL>T	1	51355792	51374674	Ref too long to show for this DEL	T	FAF1	c.45+50765_46-32124del	NM_007051.3	NP_008982.1:p.?	NC_000001.10:g.51355793_51374674del	VUS	1 lab	2cda3eb09a
18:136226 MISSING Ref too long to show for this DEL>G	18	136226	6697514	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.136227_6697514del	(Likely) pathogenic	1 lab	2cdb467180
13:32913162 BRCA2 C>G	13	32913162	32913162	C	G	BRCA2	c.4670C>G	NM_000059.4	NP_000050.3:p.(Thr1557Ser)	NC_000013.10:g.32913162C>G	(Likely) benign	1 lab	2cdedfbaff
3:38968336 SCN11A C>T	3	38968336	38968336	C	T	SCN11A	c.575G>A	NM_001349253.2	NP_001336182.1:p.(Arg192Gln)	NC_000003.11:g.38968336C>T	VUS	1 lab	2cea4b822d
X:152769942 BGN C>T	X	152769942	152769942	C	T	BGN	c.-11-137C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152769942C>T	(Likely) benign	1 lab	2ceb48e828
15:73617794 HCN4 G>A	15	73617794	73617794	G	A	HCN4	c.1591-9C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617794G>A	(Likely) benign	1 lab	2cf93ba380
11:18303597 HPS5 G>A	11	18303597	18303597	G	A	HPS5	c.3229C>T	NM_181507.2	NP_852608.1:p.(Arg1077Trp)	NC_000011.9:g.18303597G>A	VUS	1 lab	2cf9a5f68d
10:90974825 LIPA T>C	10	90974825	90974825	T	C	LIPA	c.967-7A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90974825T>C	(Likely) benign	1 lab	2cfb1f4766
1:186036957 HMCN1 C>T	1	186036957	186036957	C	T	HMCN1	c.7706-9C>T	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186036957C>T	(Likely) benign	1 lab	2d00ffae1f
17:59857614 BRIP1 CAACT>C	17	59857614	59857621	CAACT	C	BRIP1	c.1935+4_1935+7del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857618_59857621del	VUS	1 lab	2d0904b92e
1:12059087 MFN2 C>G	1	12059087	12059087	C	G	MFN2	c.751C>G	NM_014874.4	NP_055689.1:p.(Pro251Ala)	NC_000001.10:g.12059087C>G	(Likely) pathogenic	1 lab	2d144b914b
9:133573545 EXOSC2 A>G	9	133573545	133573545	A	G	EXOSC2	c.271-4A>G	NM_014285.7	NP_055100.2:p.?	NC_000009.11:g.133573545A>G	(Likely) benign	1 lab	2d189c70a8
8:24813751 NEFL C>T	8	24813751	24813751	C	T	NEFL	c.279G>A	NM_006158.5	NP_006149.2:p.(Gln93=)	NC_000008.10:g.24813751C>T	(Likely) benign	1 lab	2d1dabaa93
15:85400429 ALPK3 G>A	15	85400429	85400429	G	A	ALPK3	c.2460G>A	NM_020778.5	NP_065829.4:p.(Gly820=)	NC_000015.9:g.85400429G>A	(Likely) benign	1 lab	2d1e25793e
5:37148376 CPLANE1 G>GA	5	37148376	37148382	G	GA	CPLANE1	c.8212-7dup	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37148382dup	(Likely) benign	1 lab	2d24679aa0
7:33573772 BBS9 G>A	7	33573772	33573772	G	A	BBS9	c.2505G>A	NM_198428.3	NP_940820.1:p.(Gln835=)	NC_000007.13:g.33573772G>A	(Likely) benign	1 lab	2d24d98687
14:23872995 MYH6 C>T	14	23872995	23872995	C	T	MYH6	c.736-8G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872995C>T	(Likely) benign	1 lab	2d2987d4a3
14:73465027 ZFYVE1 C>CAA	14	73465027	73465042	C	CAA	ZFYVE1	c.484-6_484-5dup	NM_021260.4	NP_067083.1:p.?	NC_000014.8:g.73465041_73465042dup	(Likely) benign	1 lab	2d2ac0d4e4
6:100841519 SIM1 ATCGGCCTCC>A	6	100841519	100841529	ATCGGCCTCC	A	SIM1	c.1405_1413del	NM_005068.3	NP_005059.2:p.(Gly469_Arg471del)	NC_000006.11:g.100841521_100841529del	VUS	1 lab	2d31cd4e9f
16:56997233 CETP G>A	16	56997233	56997233	G	A	CETP	c.233+197G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997233G>A	(Likely) benign	1 lab	2d3540a9aa
16:88782252 PIEZO1 GC>G	16	88782252	88782256	GC	G	PIEZO1	c.7326del	NM_001142864.4	NP_001136336.2:p.(Leu2443CysfsTer71)	NC_000016.9:g.88782256del	(Likely) pathogenic	1 lab	2d479ef0d5
X:69417960 MISSING C>Alt too long to show for this DUP	X	69417960	69447974	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69417961_69447974dup	VUS	1 lab	2d47a71574
7:94040275 COL1A2 T>G	7	94040275	94040275	T	G	COL1A2	c.1251+21T>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040275T>G	(Likely) benign	1 lab	2d49efdd7f
10:118891992 VAX1 G>GA	10	118891992	118892004	G	GA	VAX1	c.430-5dup	NM_199131.3	NP_954582.1:p.?	NC_000010.10:g.118892004dup	(Likely) benign	1 lab	2d4fc99fa4
3:30732942 TGFBR2 G>T	3	30732942	30732942	G	T	TGFBR2	c.1630G>T	NM_001024847.2	NP_001020018.1:p.(Glu544Ter)	NC_000003.11:g.30732942G>T	(Likely) pathogenic	1 lab	2d557242a2
9:117168689 WHRN G>A	9	117168689	117168689	G	A	WHRN	c.2182C>T	NM_015404.4	NP_056219.3:p.(Arg728Cys)	NC_000009.11:g.117168689G>A	(Likely) benign	1 lab	2d577b16d7
7:150642602 KCNH2 C>A	7	150642602	150642602	C	A	KCNH2	c.3331G>T	NM_000238.4	NP_000229.1:p.(Val1111Phe)	NC_000007.13:g.150642602C>A	VUS	1 lab	2d59e789e9
11:89514122 MISSING Ref too long to show for this DEL>T	11	89514122	89661394	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.89514123_89661394del	VUS	1 lab	2d5aa131eb
4:153864431 FHDC1 T>C	4	153864431	153864431	T	C	FHDC1	c.222T>C	NM_033393.3	NP_203751.2:p.(Pro74=)	NC_000004.11:g.153864431T>C	(Likely) benign	1 lab	2d5cd2620e
19:49692031 TRPM4 C>T	19	49692031	49692031	C	T	TRPM4	c.1873+4C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49692031C>T	(Likely) benign	1 lab	2d5df249ef
15:23889935 MAGEL2 TG>T	15	23889935	23889938	TG	T	MAGEL2	c.2954del	NM_019066.5	NP_061939.3:p.(Pro985GlnfsTer7)	NC_000015.9:g.23889938del	(Likely) pathogenic	1 lab	2d5ec388f7
8:17115579 MISSING Ref too long to show for this DEL>A	8	17115579	17798848	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.17115581_17798848del	VUS	1 lab	2d6062e0b9
9:107573064 ABCA1 G>A	9	107573064	107573064	G	A	ABCA1	c.4175+17C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107573064G>A	(Likely) benign	1 lab	2d63085794
15:52664324 MYO5A C>T	15	52664324	52664324	C	T	MYO5A	c.2814G>A	NM_000259.3	NP_000250.3:p.(Glu938=)	NC_000015.9:g.52664324C>T	(Likely) benign	1 lab	2d6d1c624a
13:60327913 DIAPH3 Ref too long to show for this DEL>T	13	60327913	60420457	Ref too long to show for this DEL	T	DIAPH3	c.2738-6875_3319+20409del	NM_001042517.2	NP_001035982.1:p.?	NC_000013.10:g.60327914_60420457del	VUS	1 lab	2d6d56ed8e
1:6528589 PLEKHG5 C>T	1	6528589	6528589	C	T	PLEKHG5	c.2307G>A	NM_198681.4	NP_941374.3:p.(Thr769=)	NC_000001.10:g.6528589C>T	(Likely) benign	1 lab	2d6db03aa9
4:39924372 PDS5A T>TA	4	39924372	39924388	T	TA	PDS5A	c.528-5dup	NM_001100399.2	NP_001093869.1:p.?	NC_000004.11:g.39924388dup	(Likely) benign	1 lab	2d721f3732
9:109689270 ZNF462 C>CT	9	109689270	109689271	C	CT	ZNF462	c.3078dup	NM_021224.6	NP_067047.4:p.(Val1027CysfsTer5)	NC_000009.11:g.109689271dup	(Likely) pathogenic	1 lab	2d76ef1796
4:6303599 WFS1 C>T	4	6303599	6303599	C	T	WFS1	c.2077C>T	NM_006005.3	NP_005996.2:p.(Leu693=)	NC_000004.11:g.6303599C>T	(Likely) benign	1 lab	2d779c3e96
15:66782048 MAP2K1 C>T	15	66782048	66782048	C	T	MAP2K1	c.1023-8C>T	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66782048C>T	(Likely) benign	1 lab	2d7977abcf
2:98736231 VWA3B G>A	2	98736231	98736231	G	A	VWA3B	c.542+5G>A	NM_144992.5	NP_659429.4:p.?	NC_000002.11:g.98736231G>A	VUS	1 lab	2d82826363
4:185634171 CENPU CA>C	4	185634171	185634182	CA	C	CENPU	c.619-5del	NM_024629.4	NP_078905.2:p.?	NC_000004.11:g.185634182del	(Likely) benign	1 lab	2d84860916
3:69047141 EOGT G>A	3	69047141	69047141	G	A	EOGT	c.831+21C>T	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69047141G>A	(Likely) benign	1 lab	2d8c0dac34
18:28659813 DSC2 C>T	18	28659813	28659813	C	T	DSC2	c.1663G>A	NM_004949.5	NP_004940.1:p.(Gly555Arg)	NC_000018.9:g.28659813C>T	VUS	1 lab	2d8cce45a3
X:153130125 L1CAM C>T	X	153130125	153130125	C	T	L1CAM	c.3081G>A	NM_001278116.2	NP_001265045.1:p.(Ala1027=)	NC_000023.10:g.153130125C>T	(Likely) benign	1 lab	2d8e0d5422
19:11227814 LDLR CTTT>C	19	11227814	11227831	CTTT	C	LDLR	c.1845+155_1845+157del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227829_11227831del	VUS	1 lab	2d90036cc6
8:38940485 ADAM9 A>C	8	38940485	38940485	A	C	ADAM9	c.1963-2A>C	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38940485A>C	(Likely) pathogenic	1 lab	2d900c009e
7:128506658 SPMIP1 A>C	7	128506658	128506658	A	C	SPMIP1	c.195A>C	NM_001195150.3	NP_001182079.1:p.(Pro65=)	NC_000007.13:g.128506658A>C	(Likely) benign	1 lab	2d97a356ca
2:179611643 TTN A>G	2	179611643	179611643	A	G	TTN	c.15484T>C	NM_133379.5	NP_596870.2:p.(Trp5162Arg)	NC_000002.11:g.179611643A>G	VUS	1 lab	2d9a37ab19
2:25064458 ADCY3 G>A	2	25064458	25064458	G	A	ADCY3	c.1035C>T	NM_001377128.1	NP_001364057.1:p.(Asn345=)	NC_000002.11:g.25064458G>A	(Likely) benign	1 lab	2d9b4b1964
2:86683569 KDM3A C>A	2	86683569	86683569	C	A	KDM3A	c.561C>A	NM_018433.6	NP_060903.2:p.(Asp187Glu)	NC_000002.11:g.86683569C>A	(Likely) benign	1 lab	2da0a4a22e
11:47366430 MYBPC3 C>T	11	47366430	47366430	C	T	MYBPC3	c.1091-1255G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366430C>T	(Likely) benign	1 lab	2da17c0848
17:39925235 JUP C>A	17	39925235	39925235	C	A	JUP	c.693G>T	NM_001352773.2	NP_001339702.1:p.(Leu231=)	NC_000017.10:g.39925235C>A	(Likely) benign	1 lab	2da3202a4f
8:10468631 RP1L1 C>T	8	10468631	10468631	C	T	RP1L1	c.2977G>A	NM_178857.6	NP_849188.4:p.(Asp993Asn)	NC_000008.10:g.10468631C>T	(Likely) benign	1 lab	2daa6aad3b
6:126080681 HEY2 C>T	6	126080681	126080681	C	T	HEY2	c.747C>T	NM_012259.3	NP_036391.1:p.(Cys249=)	NC_000006.11:g.126080681C>T	(Likely) benign	1 lab	2dab7f5bf0
1:152882982 IVL C>CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	1	152882982	152883055	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG	IVL	c.753_782dup	NM_005547.4	NP_005538.2:p.(Glu254_Leu263dup)	NC_000001.10:g.152883026_152883055dup	(Likely) benign	1 lab	2dad123d7a
X:135956575 RBMX G>A	X	135956575	135956575	G	A	RBMX	c.902C>T	NM_002139.4	NP_002130.2:p.(Pro301Leu)	NC_000023.10:g.135956575G>A	(Likely) benign	1 lab	2dae55f5d7
1:11907411 NPPA G>A	1	11907411	11907411	G	A	NPPA	c.209C>T	NM_006172.4	NP_006163.1:p.(Ala70Val)	NC_000001.10:g.11907411G>A	VUS	1 lab	2db55f5bc2
15:58256127 ALDH1A2 C>T	15	58256127	58256127	C	T	ALDH1A2	c.1042G>A	NM_003888.4	NP_003879.2:p.(Val348Ile)	NC_000015.9:g.58256127C>T	(Likely) benign	1 lab	2db7a2b172
3:38592120 SCN5A G>A	3	38592120	38592120	G	A	SCN5A	c.5743C>T	NM_198056.3	NP_932173.1:p.(His1915Tyr)	NC_000003.11:g.38592120G>A	VUS	1 lab	2dba9d09a3
16:67977993 LCAT G>A	16	67977993	67977993	G	A	LCAT	c.12C>T	NM_000229.2	NP_000220.1:p.(Pro4=)	NC_000016.9:g.67977993G>A	(Likely) benign	1 lab	2dbaa8d2bb
13:24436467 MIPEP T>C	13	24436467	24436467	T	C	MIPEP	c.1027A>G	NM_005932.4	NP_005923.3:p.(Lys343Glu)	NC_000013.10:g.24436467T>C	(Likely) pathogenic	1 lab	2dbb70d2d5
1:156104692 LMNA C>T	1	156104692	156104692	C	T	LMNA	c.736C>T	NM_170707.4	NP_733821.1:p.(Gln246Ter)	NC_000001.10:g.156104692C>T	(Likely) pathogenic	1 lab	2dbef1f48c
11:65318529 LTBP3 G>C	11	65318529	65318529	G	C	LTBP3	c.1720+68C>G	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318529G>C	(Likely) benign	1 lab	2dc79003a9
11:66114876 B4GAT1 C>T	11	66114876	66114876	C	T	B4GAT1	c.141G>A	NM_006876.3	NP_006867.1:p.(Glu47=)	NC_000011.9:g.66114876C>T	(Likely) benign	1 lab	2dc9b245c8
9:32542174 TOPORS C>T	9	32542174	32542174	C	T	TOPORS	c.2349G>A	NM_005802.5	NP_005793.2:p.(Gly783=)	NC_000009.11:g.32542174C>T	(Likely) benign	1 lab	2dca2e3024
4:100529757 MTTP G>A	4	100529757	100529757	G	A	MTTP	c.1558-166G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100529757G>A	(Likely) benign	1 lab	2dcba8d69b
19:10904493 DNM2 C>T	19	10904493	10904493	C	T	DNM2	c.1090C>T	NM_001005360.3	NP_001005360.1:p.(Arg364Cys)	NC_000019.9:g.10904493C>T	(Likely) pathogenic	1 lab	2dcc55d386
X:55590186 MISSING C>Alt too long to show for this DUP	X	55590186	55690684	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.55590189_55690684dup	VUS	1 lab	2dcef88651
X:70443879 GJB1 C>CT	X	70443879	70443881	C	CT	GJB1	c.324dup	NM_000166.6	NP_000157.1:p.(Glu109Ter)	NC_000023.10:g.70443881dup	(Likely) pathogenic	1 lab	2dd1658f4a
9:137677838 COL5A1 C>T	9	137677838	137677838	C	T	COL5A1	c.2593-3C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137677838C>T	(Likely) benign	1 lab	2dd5d03bb0
2:167133479 SCN9A ATCT>A	2	167133479	167133482	ATCT	A	SCN9A	c.2841+11_2841+13del	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167133480_167133482del	(Likely) benign	1 lab	2dd63236e6
7:128630047 TNPO3 C>G	7	128630047	128630047	C	G	TNPO3	c.1466G>C	NM_012470.4	NP_036602.1:p.(Ser489Thr)	NC_000007.13:g.128630047C>G	VUS	1 lab	2dd91575a2
1:103356072 COL11A1 CA>C	1	103356072	103356082	CA	C	COL11A1	c.4339-13del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103356082del	(Likely) benign	1 lab	2dd9cd5a3b
15:44887474 SPG11 A>C	15	44887474	44887474	A	C	SPG11	c.4618T>G	NM_025137.4	NP_079413.3:p.(Phe1540Val)	NC_000015.9:g.44887474A>C	VUS	1 lab	2de73d2f56
11:78024309 GAB2 Ref too long to show for this DEL>A	11	78024309	78052859	Ref too long to show for this DEL	A	GAB2	c.76-60912_76-32363del	NM_080491.3	NP_536739.1:p.?	NC_000011.9:g.78024310_78052859del	VUS	1 lab	2de8d25ad5
18:19424054 MIB1 T>G	18	19424054	19424054	T	G	MIB1	c.2051T>G	NM_020774.4	NP_065825.1:p.(Leu684Arg)	NC_000018.9:g.19424054T>G	VUS	1 lab	2dea45bd11
16:1004605 LMF1 A>G	16	1004605	1004605	A	G	LMF1	c.255T>C	NM_022773.4	NP_073610.2:p.(Leu85=)	NC_000016.9:g.1004605A>G	(Likely) benign	1 lab	2dfb424a83
1:17086085 MST1L G>GC	1	17086085	17086087	G	GC	MST1L	c.811dup	NM_001271733.1	NP_001258662.1:p.(Ala271GlyfsTer26)	NC_000001.10:g.17086087dup	(Likely) benign	1 lab	2dfd0baaa2
18:12325441 TUBB6 C>G	18	12325441	12325441	C	G	TUBB6	c.215C>G	NM_001303530.3	NP_001290459.1:p.(Thr72Arg)	NC_000018.9:g.12325441C>G	VUS	1 lab	2dfea8a773
X:31668441 DMD Ref too long to show for this DEL>T	X	31668441	31936656	Ref too long to show for this DEL	T	DMD	c.6912+11059_8027+7665del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31668444_31936656del	(Likely) pathogenic	1 lab	2e021fd6ff
18:47117174 LIPG T>C	18	47117174	47117174	T	C	LIPG	c.*282T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47117174T>C	(Likely) benign	1 lab	2e06ac4db7
2:44052098 ABCG5 C>T	2	44052098	44052098	C	T	ABCG5	c.834G>A	NM_022436.3	NP_071881.1:p.(Ala278=)	NC_000002.11:g.44052098C>T	(Likely) benign	1 lab	2e0c3728e2
12:72998552 MISSING T>Alt too long to show for this DUP	12	72998552	73549380	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.72998555_73549380dup	VUS	1 lab	2e0d8325e1
11:76903158 MYO7A C>T	11	76903158	76903158	C	T	MYO7A	c.3987C>T	NM_000260.4	NP_000251.3:p.(Tyr1329=)	NC_000011.9:g.76903158C>T	(Likely) benign	1 lab	2e190d3b7c
17:39969307 FKBP10 C>T	17	39969307	39969307	C	T	FKBP10	c.21C>T	NM_021939.4	NP_068758.3:p.(Pro7=)	NC_000017.10:g.39969307C>T	(Likely) benign	1 lab	2e1a41bf27
16:1004555 LMF1 G>A	16	1004555	1004555	G	A	LMF1	c.305C>T	NM_022773.4	NP_073610.2:p.(Thr102Met)	NC_000016.9:g.1004555G>A	VUS	1 lab	2e1e000eb7
4:100528154 MTTP GA>G	4	100528154	100528165	GA	G	MTTP	c.1557+48del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528165del	(Likely) benign	1 lab	2e2312ffe3
19:33892681 PEPD C>T	19	33892681	33892681	C	T	PEPD	c.913G>A	NM_000285.4	NP_000276.2:p.(Val305Ile)	NC_000019.9:g.33892681C>T	(Likely) benign	1 lab	2e323c23e5
10:90987564 LIPA T>G	10	90987564	90987564	T	G	LIPA	c.428+393A>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90987564T>G	(Likely) benign	1 lab	2e35fffdfd
1:55518016 PCSK9 G>A	1	55518016	55518016	G	A	PCSK9	c.589G>A	NM_174936.4	NP_777596.2:p.(Glu197Lys)	NC_000001.10:g.55518016G>A	VUS	1 lab	2e36dac37b
8:11612896 GATA4 T>G	8	11612896	11612896	T	G	GATA4	c.1000+254T>G	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11612896T>G	(Likely) benign	1 lab	2e37f444d8
18:57115229 CCBE1 CCCCCAGGCAGGCCAGGAGGTCCTGGA>C	18	57115229	57115255	CCCCCAGGCAGGCCAGGAGGTCCTGGA	C	CCBE1	c.735_760del	NM_133459.4	NP_597716.1:p.(Pro249SerfsTer36)	NC_000018.9:g.57115230_57115255del	(Likely) pathogenic	1 lab	2e44203d75
1:216230047 USH2A C>G	1	216230047	216230047	C	G	USH2A	c.6050-8058G>C	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216230047C>G	VUS	1 lab	2e47e06f95
1:196714954 CFH A>G	1	196714954	196714954	A	G	CFH	c.3318A>G	NM_000186.4	NP_000177.2:p.(Thr1106=)	NC_000001.10:g.196714954A>G	(Likely) benign	1 lab	2e48750852
2:179500410 TTN G>C	2	179500410	179500410	G	C	TTN	c.33937C>G	NM_133378.4	NP_596869.4:p.(Arg11313Gly)	NC_000002.11:g.179500410G>C	VUS	1 lab	2e4a7f90e3
9:107591024 ABCA1 C>T	9	107591024	107591024	C	T	ABCA1	c.2115+173G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591024C>T	(Likely) benign	1 lab	2e4aa70ae6
11:71943654 INPPL1 G>A	11	71943654	71943654	G	A	INPPL1	c.1713-16G>A	NM_001567.4	NP_001558.3:p.?	NC_000011.9:g.71943654G>A	(Likely) benign	1 lab	2e4ecde72b
16:16248834 ABCC6 G>A	16	16248834	16248834	G	A	ABCC6	c.3937C>T	NM_001171.6	NP_001162.5:p.(Leu1313=)	NC_000016.9:g.16248834G>A	(Likely) benign	1 lab	2e530e3477
1:66096093 LEPR T>TAAA	1	66096093	66096105	T	TAAA	LEPR	c.*15_*17dup	NM_001003680.3	NP_001003680.1:p.?	NC_000001.10:g.66096103_66096105dup	(Likely) benign	1 lab	2e53c6b813
12:125272258 SCARB1 G>GT	12	125272258	125272269	G	GT	SCARB1	c.1203-256dup	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125272269dup	(Likely) benign	1 lab	2e55286a36
2:241700141 KIF1A G>A	2	241700141	241700141	G	A	KIF1A	c.2385C>T	NM_001244008.2	NP_001230937.1:p.(Ala795=)	NC_000002.11:g.241700141G>A	(Likely) benign	1 lab	2e5777d139
5:82835545 VCAN A>G	5	82835545	82835545	A	G	VCAN	c.6723A>G	NM_004385.5	NP_004376.2:p.(Arg2241=)	NC_000005.9:g.82835545A>G	(Likely) benign	1 lab	2e5cae4dca
6:32039872 TNXB C>T	6	32039872	32039872	C	T	TNXB	c.4885G>A	NM_019105.8	NP_061978.6:p.(Glu1629Lys)	NC_000006.11:g.32039872C>T	(Likely) benign	1 lab	2e5cd80670
7:100642829 MUC12 C>T	7	100642829	100642829	C	T	MUC12	c.8985C>T	NM_001164462.1	NP_001157934.1:p.(Thr2995=)	NC_000007.13:g.100642829C>T	(Likely) benign	1 lab	2e5d6656e4
10:48389375 RBP3 G>A	10	48389375	48389375	G	A	RBP3	c.1503C>T	NM_002900.3	NP_002891.1:p.(Ala501=)	NC_000010.10:g.48389375G>A	(Likely) benign	1 lab	2e5db9a412
18:25593779 CDH2 G>A	18	25593779	25593779	G	A	CDH2	c.267C>T	NM_001792.5	NP_001783.2:p.(Ala89=)	NC_000018.9:g.25593779G>A	(Likely) benign	1 lab	2e5f35c7a9
10:105798263 COL17A1 C>T	10	105798263	105798263	C	T	COL17A1	c.2971G>A	NM_000494.4	NP_000485.3:p.(Val991Met)	NC_000010.10:g.105798263C>T	(Likely) benign	1 lab	2e6147659e
2:179616215 TTN T>A	2	179616215	179616215	T	A	TTN	c.10912A>T	NM_133379.5	NP_596870.2:p.(Thr3638Ser)	NC_000002.11:g.179616215T>A	VUS	1 lab	2e6488db7a
19:50812927 MYH14 G>A	19	50812927	50812927	G	A	MYH14	c.5991G>A	NM_001145809.2	NP_001139281.1:p.(Thr1997=)	NC_000019.9:g.50812927G>A	(Likely) benign	1 lab	2e64f858cb
5:118463419 MISSING C>Alt too long to show for this DUP	5	118463419	118626761	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.118463422_118626761dup	VUS	1 lab	2e6556c6d0
11:68703755 IGHMBP2 C>T	11	68703755	68703755	C	T	IGHMBP2	c.1807C>T	NM_002180.3	NP_002171.2:p.(Arg603Cys)	NC_000011.9:g.68703755C>T	(Likely) pathogenic	1 lab	2e698a4fbe
5:1216787 SLC6A19 C>T	5	1216787	1216787	C	T	SLC6A19	c.1002C>T	NM_001003841.3	NP_001003841.1:p.(Asp334=)	NC_000005.9:g.1216787C>T	(Likely) benign	1 lab	2e699369d0
11:47360168 MYBPC3 C>T	11	47360168	47360168	C	T	MYBPC3	c.2211G>A	NM_000256.3	NP_000247.2:p.(Thr737=)	NC_000011.9:g.47360168C>T	(Likely) benign	1 lab	2e6c128ab0
17:73515055 TSEN54 A>AT	17	73515055	73515067	A	AT	TSEN54	c.469-9dup	NM_207346.3	NP_997229.2:p.?	NC_000017.10:g.73515067dup	(Likely) benign	1 lab	2e714f726c
12:32955301 PKP2 T>C	12	32955301	32955301	T	C	PKP2	c.2299+36A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955301T>C	(Likely) benign	1 lab	2e74e17f82
X:153549180 TKTL1 G>A	X	153549180	153549180	G	A	TKTL1	c.1106G>A	NM_012253.4	NP_036385.3:p.(Arg369Gln)	NC_000023.10:g.153549180G>A	(Likely) benign	1 lab	2e75ff53f9
15:73615577 HCN4 C>T	15	73615577	73615577	C	T	HCN4	c.2857G>A	NM_005477.3	NP_005468.1:p.(Gly953Arg)	NC_000015.9:g.73615577C>T	VUS	1 lab	2e76eb145d
12:1995193 CACNA2D4 C>T	12	1995193	1995193	C	T	CACNA2D4	c.1006G>A	NM_172364.5	NP_758952.4:p.(Val336Ile)	NC_000012.11:g.1995193C>T	VUS	1 lab	2e7b883abe
3:49693679 BSN T>C	3	49693679	49693679	T	C	BSN	c.6690T>C	NM_003458.4	NP_003449.2:p.(Ser2230=)	NC_000003.11:g.49693679T>C	(Likely) benign	1 lab	2e7c794741
18:47107909 LIPG G>T	18	47107909	47107909	G	T	LIPG	c.918G>T	NM_006033.4	NP_006024.1:p.(Gly306=)	NC_000018.9:g.47107909G>T	(Likely) benign	1 lab	2e7f8011fe
12:21331838 SLCO1B1 G>A	12	21331838	21331838	G	A	SLCO1B1	c.629-18G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331838G>A	(Likely) benign	1 lab	2e80825c95
11:125891162 CDON A>G	11	125891162	125891162	A	G	CDON	c.330T>C	NM_001243597.2	NP_001230526.1:p.(Pro110=)	NC_000011.9:g.125891162A>G	(Likely) benign	1 lab	2e88ab74c5
11:116661222 APOA5 G>A	11	116661222	116661222	G	A	APOA5	c.723C>T	NM_052968.5	NP_443200.2:p.(Ala241=)	NC_000011.9:g.116661222G>A	(Likely) benign	1 lab	2e89107e16
16:72130920 DHX38 A>G	16	72130920	72130920	A	G	DHX38	c.511+12A>G	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72130920A>G	(Likely) benign	1 lab	2e89b367a9
1:55518190 PCSK9 A>AC	1	55518190	55518198	A	AC	PCSK9	c.657+114dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518198dup	(Likely) benign	1 lab	2e8b59e69f
16:46761238 MYLK3 C>T	16	46761238	46761238	C	T	MYLK3	c.1824G>A	NM_182493.3	NP_872299.2:p.(Leu608=)	NC_000016.9:g.46761238C>T	(Likely) benign	1 lab	2e8c429e32
19:50918729 POLD1 G>A	19	50918729	50918729	G	A	POLD1	c.2599G>A	NM_001256849.1	NP_001243778.1:p.(Val867Ile)	NC_000019.9:g.50918729G>A	(Likely) benign	1 lab	2e8f8830de
7:127894610 LEP G>A	7	127894610	127894610	G	A	LEP	c.298G>A	NM_000230.3	NP_000221.1:p.(Asp100Asn)	NC_000007.13:g.127894610G>A	VUS	1 lab	2e9639fc4a
4:100512419 MTTP A>G	4	100512419	100512419	A	G	MTTP	c.529A>G	NM_000253.4	NP_000244.2:p.(Thr177Ala)	NC_000004.11:g.100512419A>G	VUS	1 lab	2e9aabbc3c
15:85360641 ALPK3 G>T	15	85360641	85360641	G	T	ALPK3	c.-43G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85360641G>T	VUS	1 lab	2fc0008e4f
20:43532386 MISSING A>Alt too long to show for this DUP	20	43532386	43571084	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.43532389_43571084dup	VUS	1 lab	2ea601c79e
2:179440803 TTN T>C	2	179440803	179440803	T	C	TTN	c.70056A>G	NM_001267550.2	NP_001254479.2:p.(Arg23352=)	NC_000002.11:g.179440803T>C	(Likely) benign	1 lab	2eaaaf2c10
9:35719254 TLN1 G>A	9	35719254	35719254	G	A	TLN1	c.1713C>T	NM_006289.4	NP_006280.3:p.(Thr571=)	NC_000009.11:g.35719254G>A	(Likely) benign	1 lab	2ead31db4a
17:1585551 PRPF8 G>A	17	1585551	1585551	G	A	PRPF8	c.306C>T	NM_006445.4	NP_006436.3:p.(Leu102=)	NC_000017.10:g.1585551G>A	(Likely) benign	1 lab	2eb44d161f
14:95566095 DICER1 ACACACACACACAC>A	14	95566095	95566108	ACACACACACACAC	A	DICER1	c.4206+9_4206+21del	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95566096_95566108del	(Likely) benign	1 lab	2ebdf07806
17:36485312 GPR179 C>T	17	36485312	36485312	C	T	GPR179	c.4140G>A	NM_001004334.4	NP_001004334.3:p.(Pro1380=)	NC_000017.10:g.36485312C>T	(Likely) benign	1 lab	2ebe1e6c90
8:10466054 RP1L1 C>G	8	10466054	10466054	C	G	RP1L1	c.5554G>C	NM_178857.6	NP_849188.4:p.(Glu1852Gln)	NC_000008.10:g.10466054C>G	(Likely) benign	1 lab	2ebedc2cdf
2:179445147 TTN C>T	2	179445147	179445147	C	T	TTN	c.66959G>A	NM_001267550.2	NP_001254479.2:p.(Arg22320His)	NC_000002.11:g.179445147C>T	VUS	1 lab	2ec48bc149
15:85405709 ALPK3 G>A	15	85405709	85405709	G	A	ALPK3	c.4130-157G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85405709G>A	(Likely) benign	1 lab	2ec5bb9b4f
16:1003995 LMF1 CCAGCCTCCTACACGTCCACACAGACACCCACCCCAA>C	16	1003995	1004031	CCAGCCTCCTACACGTCCACACAGACACCCACCCCAA	C	LMF1	c.503+326_503+361del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1003996_1004031del	(Likely) benign	1 lab	2ec799f81f
11:116703146 APOC3 C>T	11	116703146	116703146	C	T	APOC3	c.180-334C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703146C>T	(Likely) benign	1 lab	2ecb339913
5:111660715 MISSING A>Alt too long to show for this DUP	5	111660715	112384665	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.111660716_112384665dup	(Likely) pathogenic	1 lab	310029f5f4
9:107561675 ABCA1 TCA>T	9	107561675	107561717	TCA	T	ABCA1	c.4943+423_4943+424del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107561716_107561717del	(Likely) benign	1 lab	2ecedc742f
5:110079500 SLC25A46 T>G	5	110079500	110079500	T	G	SLC25A46	c.384+12T>G	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110079500T>G	(Likely) benign	1 lab	2ed26bd015
5:86669966 RASA1 T>TA	5	86669966	86669967	T	TA	RASA1	c.1777-14_1777-13insA	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86669966_86669967insA	(Likely) benign	1 lab	2ed473096f
1:63064347 ANGPTL3 AACCT>A	1	63064347	63064353	AACCT	A	ANGPTL3	c.496-17_496-14del	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63064350_63064353del	(Likely) benign	1 lab	2ed8d61afd
17:34171710 TAF15 CGGCTATGGAGGAGACCGAGGAGGT>C	17	34171710	34171748	CGGCTATGGAGGAGACCGAGGAGGT	C	TAF15	c.1422_1445del	NM_139215.3	NP_631961.1:p.(Gly478_Gly485del)	NC_000017.10:g.34171725_34171748del	(Likely) benign	1 lab	2edaea4bab
12:22089619 ABCC9 A>G	12	22089619	22089619	A	G	ABCC9	c.-11T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22089619A>G	(Likely) benign	1 lab	2ee32a8c3d
13:77672553 MYCBP2 A>C	13	77672553	77672553	A	C	MYCBP2	c.8736T>G	NM_015057.5	NP_055872.4:p.(Pro2912=)	NC_000013.10:g.77672553A>C	(Likely) benign	1 lab	2ee558d843
6:107476000 PDSS2 A>G	6	107476000	107476000	A	G	PDSS2	c.1042-19T>C	NM_020381.4	NP_065114.3:p.?	NC_000006.11:g.107476000A>G	(Likely) benign	1 lab	2ee6c08152
19:11224213 LDLR C>T	19	11224213	11224213	C	T	LDLR	c.1361C>T	NM_000527.5	NP_000518.1:p.(Thr454Ile)	NC_000019.9:g.11224213C>T	(Likely) pathogenic	1 lab	2ee96b480f
9:107599385 ABCA1 C>T	9	107599385	107599385	C	T	ABCA1	c.1195-8G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599385C>T	(Likely) benign	1 lab	2ee9d8d2e6
4:100534105 MTTP C>T	4	100534105	100534105	C	T	MTTP	c.2025C>T	NM_000253.4	NP_000244.2:p.(Ile675=)	NC_000004.11:g.100534105C>T	(Likely) benign	1 lab	2eecde377f
15:48726853 FBN1 A>G	15	48726853	48726853	A	G	FBN1	c.6554T>C	NM_000138.5	NP_000129.3:p.(Ile2185Thr)	NC_000015.9:g.48726853A>G	(Likely) pathogenic	1 lab	2eed12227d
15:71548645 THSD4 C>T	15	71548645	71548645	C	T	THSD4	c.913-307C>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71548645C>T	(Likely) benign	1 lab	2eef78fe6f
18:10787199 PIEZO2 GA>G	18	10787199	10787210	GA	G	PIEZO2	c.2170-18del	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10787210del	(Likely) benign	1 lab	2ef6d7370d
11:66297291 BBS1 C>T	11	66297291	66297291	C	T	BBS1	c.1341C>T	NM_024649.5	NP_078925.3:p.(Ala447=)	NC_000011.9:g.66297291C>T	(Likely) benign	1 lab	2ef7094262
16:89598370 SPG7 G>GC	16	89598370	89598377	G	GC	SPG7	c.1053dup	NM_001363850.1	NP_001350779.1:p.(Gly352ArgfsTer44)	NC_000016.9:g.89598377dup	(Likely) pathogenic	1 lab	2efb9c230b
8:24813838 NEFL C>T	8	24813838	24813838	C	T	NEFL	c.192G>A	NM_006158.5	NP_006149.2:p.(Leu64=)	NC_000008.10:g.24813838C>T	(Likely) benign	1 lab	2eff72ad42
8:1876650 ARHGEF10 A>C	8	1876650	1876650	A	C	ARHGEF10	c.2827A>C	NM_001308153.2	NP_001295082.1:p.(Thr943Pro)	NC_000008.10:g.1876650A>C	(Likely) benign	1 lab	2f0183cb55
3:78708810 ROBO1 A>AATAT	3	78708810	78708824	A	AATAT	ROBO1	c.2334+22_2334+25dup	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78708821_78708824dup	(Likely) benign	1 lab	2f03be2dc1
11:47370459 MYBPC3 T>TTATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATAT	(Likely) benign	1 lab	2f086bf048
12:32945648 PKP2 G>T	12	32945648	32945648	G	T	PKP2	c.2507C>A	NM_004572.4	NP_004563.2:p.(Ala836Glu)	NC_000012.11:g.32945648G>T	VUS	1 lab	2f090dd398
17:15162512 PMP22 TAGAG>T	17	15162512	15162519	TAGAG	T	PMP22	c.79-6_79-3del	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15162516_15162519del	(Likely) benign	1 lab	2f0acc3409
2:179438720 TTN A>G	2	179438720	179438720	A	G	TTN	c.72139T>C	NM_001267550.2	NP_001254479.2:p.(Phe24047Leu)	NC_000002.11:g.179438720A>G	VUS	1 lab	2f0b1c0ee9
15:22833503 MISSING Ref too long to show for this DEL>G	15	22833503	23086432	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.22833506_23086432del	(Likely) pathogenic	1 lab	2f1c7c539c
8:110099918 TRHR C>T	8	110099918	110099918	C	T	TRHR	c.177C>T	NM_003301.7	NP_003292.1:p.(Pro59=)	NC_000008.10:g.110099918C>T	(Likely) benign	1 lab	2f1f9ed218
2:29606743 ALK CAG>C	2	29606743	29606747	CAG	C	ALK	c.1155-20_1155-19del	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29606746_29606747del	(Likely) benign	1 lab	2f319730e3
9:107602794 ABCA1 T>G	9	107602794	107602794	T	G	ABCA1	c.820A>C	NM_005502.4	NP_005493.2:p.(Ser274Arg)	NC_000009.11:g.107602794T>G	VUS	1 lab	2f3614022c
17:59938832 BRIP1 C>T	17	59938832	59938832	C	T	BRIP1	c.69G>A	NM_032043.3	NP_114432.2:p.(Pro23=)	NC_000017.10:g.59938832C>T	(Likely) benign	1 lab	2f3b66c42f
18:24097396 MISSING G>Alt too long to show for this DUP	18	24097396	24473507	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.24097397_24473507dup	VUS	1 lab	2f3d42bb04
16:23614802 PALB2 A>G	16	23614802	23614802	A	G	PALB2	c.3539T>C	NM_024675.4	NP_078951.2:p.(Ile1180Thr)	NC_000016.9:g.23614802A>G	VUS	1 lab	2f4098f73b
12:125299563 SCARB1 C>T	12	125299563	125299563	C	T	SCARB1	c.382G>A	NM_001367981.1	NP_001354910.1:p.(Gly128Ser)	NC_000012.11:g.125299563C>T	VUS	1 lab	2f40e2fda8
14:23894238 MYH7 A>T	14	23894238	23894238	A	T	MYH7	c.2424-5T>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23894238A>T	VUS	1 lab	2f4156b0b1
19:50912786 POLD1 G>A	19	50912786	50912786	G	A	POLD1	c.2017G>A	NM_001256849.1	NP_001243778.1:p.(Glu673Lys)	NC_000019.9:g.50912786G>A	VUS	1 lab	2f422dbe4f
X:139806255 LINC00632 G>Alt too long to show for this DUP	X	139806255	139808815	G	Alt too long to show for this DUP	LINC00632	n.84-9787_84-7228dup	NR_173140.2		NC_000023.10:g.139806256_139808815dup	VUS	1 lab	2f439200c5
19:1430254 DAZAP1 C>G	19	1430254	1430254	C	G	DAZAP1	c.764C>G	NM_170711.3	NP_733829.1:p.(Ala255Gly)	NC_000019.9:g.1430254C>G	(Likely) benign	1 lab	2f45c05410
18:25565627 CDH2 C>T	18	25565627	25565627	C	T	CDH2	c.1840G>A	NM_001792.5	NP_001783.2:p.(Glu614Lys)	NC_000018.9:g.25565627C>T	VUS	1 lab	2f47677fa2
1:225576159 DNAH14 Ref too long to show for this DEL>T	1	225576159	225587930	Ref too long to show for this DEL	T	DNAH14				NC_000001.10:g.225576161_225587930del	VUS	1 lab	2f4acf387b
1:181013428 MR1 Ref too long to show for this DEL>A	1	181013428	181025175	Ref too long to show for this DEL	A	MR1	c.68-4758_*774del	NM_001385161.1	NP_001372090.1:p.?	NC_000001.10:g.181013430_181025175del	VUS	1 lab	2f4ed8d761
12:33031610 PKP2 T>TG	12	33031610	33031613	T	TG	PKP2	c.337-134dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031613dup	(Likely) benign	1 lab	2f4f245d68
12:40904789 MUC19 C>A	12	40904789	40904789	C	A	MUC19	c.20211C>A	NM_173600.2	NP_775871.2:p.(Thr6737=)	NC_000012.11:g.40904789C>A	(Likely) benign	1 lab	2f505a809a
16:86601132 FOXC2 C>T	16	86601132	86601132	C	T	FOXC2	c.191C>T	NM_005251.3	NP_005242.1:p.(Pro64Leu)	NC_000016.9:g.86601132C>T	VUS	1 lab	2f58898b4a
11:47354685 MYBPC3 C>T	11	47354685	47354685	C	T	MYBPC3	c.3330+60G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354685C>T	(Likely) benign	1 lab	2f5c02b87c
6:56480641 DST C>G	6	56480641	56480641	C	G	DST	c.7624G>C	NM_001723.7	NP_001714.1:p.(Val2542Leu)	NC_000006.11:g.56480641C>G	VUS	1 lab	2f5cd1e864
18:18964220 GREB1L C>CA	18	18964220	18964224	C	CA	GREB1L	c.215dup	NM_001142966.3	NP_001136438.1:p.(Asn72LysfsTer8)	NC_000018.9:g.18964224dup	(Likely) pathogenic	1 lab	2f5e68fef0
2:179458671 TTN C>T	2	179458671	179458671	C	T	TTN	c.58432+17G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179458671C>T	(Likely) benign	1 lab	2f63d49170
19:17382157 MISSING Ref too long to show for this DEL>T	19	17382157	17407252	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.17382159_17407252del	VUS	1 lab	2f69ae297d
1:243456444 SDCCAG8 G>A	1	243456444	243456444	G	A	SDCCAG8	c.598G>A	NM_001350248.2	NP_001337177.1:p.(Glu200Lys)	NC_000001.10:g.243456444G>A	VUS	1 lab	2f6e757be9
1:55521745 PCSK9 C>T	1	55521745	55521745	C	T	PCSK9	c.879C>T	NM_174936.4	NP_777596.2:p.(Tyr293=)	NC_000001.10:g.55521745C>T	(Likely) benign	1 lab	2f6ef32079
17:46629593 HOXB3 G>T	17	46629593	46629593	G	T	HOXB3	c.244C>A	NM_002146.4	NP_002137.4:p.(Pro82Thr)	NC_000017.10:g.46629593G>T	(Likely) benign	1 lab	2f6fec1b2b
19:50726319 MYH14 C>G	19	50726319	50726319	C	G	MYH14	c.563-21C>G	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50726319C>G	(Likely) benign	1 lab	2f724dc438
1:216258065 USH2A A>G	1	216258065	216258065	A	G	USH2A	c.5142T>C	NM_206933.4	NP_996816.3:p.(Asn1714=)	NC_000001.10:g.216258065A>G	(Likely) benign	1 lab	2f747e6aff
2:241697789 KIF1A C>T	2	241697789	241697789	C	T	KIF1A	c.2570G>A	NM_001244008.2	NP_001230937.1:p.(Arg857Gln)	NC_000002.11:g.241697789C>T	VUS	1 lab	2f764935bd
4:110772925 LRIT3 A>G	4	110772925	110772925	A	G	LRIT3	c.382A>G	NM_198506.5	NP_940908.3:p.(Met128Val)	NC_000004.11:g.110772925A>G	VUS	1 lab	2f7df7c3f3
16:1004565 LMF1 G>A	16	1004565	1004565	G	A	LMF1	c.295C>T	NM_022773.4	NP_073610.2:p.(Gln99Ter)	NC_000016.9:g.1004565G>A	VUS	1 lab	2f7ee5224a
6:162430759 PRKN Ref too long to show for this DEL>G	6	162430759	162639666	Ref too long to show for this DEL	G	PRKN	c.413-17380_619-36311del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162430762_162639666del	(Likely) pathogenic	1 lab	2f89cb7fe4
16:88496791 ZNF469 C>A	16	88496791	88496791	C	A	ZNF469	c.2913C>A	NM_001367624.2	NP_001354553.1:p.(Gly971=)	NC_000016.9:g.88496791C>A	(Likely) benign	1 lab	2f8c30c30d
19:10250952 DNMT1 C>T	19	10250952	10250952	C	T	DNMT1	c.3576G>A	NM_001130823.3	NP_001124295.1:p.(Ala1192=)	NC_000019.9:g.10250952C>T	(Likely) benign	1 lab	2f8e978823
9:87317110 NTRK2 C>T	9	87317110	87317110	C	T	NTRK2	c.249C>T	NM_006180.6	NP_006171.2:p.(Asn83=)	NC_000009.11:g.87317110C>T	(Likely) benign	1 lab	2f9118bd0a
12:40902864 MUC19 A>C	12	40902864	40902864	A	C	MUC19	c.20007A>C	NM_173600.2	NP_775871.2:p.(Arg6669Ser)	NC_000012.11:g.40902864A>C	(Likely) benign	1 lab	2f91c5509e
1:25883722 LDLRAP1 C>T	1	25883722	25883722	C	T	LDLRAP1	c.423C>T	NM_015627.3	NP_056442.2:p.(Leu141=)	NC_000001.10:g.25883722C>T	(Likely) benign	1 lab	2f942849fe
9:107624123 ABCA1 CA>C	9	107624123	107624138	CA	C	ABCA1	c.422-43del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624138del	(Likely) benign	1 lab	2f9564e0a3
19:11216241 LDLR C>CCGACTG	19	11216241	11216248	C	CCGACTG	LDLR	c.661_666dup	NM_000527.5	NP_000518.1:p.(Asp221_Cys222dup)	NC_000019.9:g.11216243_11216248dup	(Likely) pathogenic	1 lab	2f988a25ce
12:50503319 GPD1 G>A	12	50503319	50503319	G	A	GPD1	c.*17G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503319G>A	(Likely) benign	1 lab	2f9c02f773
11:9879838 SBF2 C>T	11	9879838	9879838	C	T	SBF2	c.2035G>A	NM_030962.4	NP_112224.1:p.(Glu679Lys)	NC_000011.9:g.9879838C>T	(Likely) benign	1 lab	2f9fd0b4a6
X:22095598 PHEX G>A	X	22095598	22095598	G	A	PHEX	c.441G>A	NM_000444.6	NP_000435.3:p.(Ala147=)	NC_000023.10:g.22095598G>A	(Likely) benign	1 lab	2fa2a6b0a8
11:118369240 KMT2A C>T	11	118369240	118369240	C	T	KMT2A	c.5958C>T	NM_001197104.2	NP_001184033.1:p.(Gly1986=)	NC_000011.9:g.118369240C>T	VUS	1 lab	2fa42d56cb
12:122257785 SETD1B C>T	12	122257785	122257785	C	T	SETD1B	c.3894C>T	NM_001353345.2	NP_001340274.1:p.(Ser1298=)	NC_000012.11:g.122257785C>T	(Likely) benign	1 lab	2fa449a335
9:137593180 COL5A1 G>C	9	137593180	137593180	G	C	COL5A1	c.654+1G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137593180G>C	(Likely) pathogenic	1 lab	2fb16a6bf4
6:56368782 DST C>T	6	56368782	56368782	C	T	DST	c.19566+13G>A	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56368782C>T	(Likely) benign	1 lab	2fb4f981f1
11:47356909 MYBPC3 G>A	11	47356909	47356909	G	A	MYBPC3	c.2738-149C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356909G>A	(Likely) benign	1 lab	2fc0f684a4
16:1004743 LMF1 C>T	16	1004743	1004743	C	T	LMF1	c.-361-77G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004743C>T	(Likely) benign	1 lab	2fc325dd3d
21:46876306 COL18A1 G>A	21	46876306	46876306	G	A	COL18A1	c.862G>A	NM_130444.3	NP_569711.2:p.(Ala288Thr)	NC_000021.8:g.46876306G>A	(Likely) benign	1 lab	2fca684b6a
20:25319846 ABHD12 G>A	20	25319846	25319846	G	A	ABHD12	c.316+17C>T	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25319846G>A	(Likely) benign	1 lab	2fcacce0e6
19:8200832 FBN3 A>C	19	8200832	8200832	A	C	FBN3	c.1591+13T>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8200832A>C	(Likely) benign	1 lab	2fcad1364c
3:123003546 ADCY5 G>A	3	123003546	123003546	G	A	ADCY5	c.3695C>T	NM_183357.3	NP_899200.1:p.(Thr1232Met)	NC_000003.11:g.123003546G>A	VUS	1 lab	2fcb794df6
5:94856414 MISSING A>Alt too long to show for this DUP	5	94856414	94901772	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.94856415_94901772dup	(Likely) pathogenic	1 lab	2fcc97ac4d
X:72313833 MISSING T>Alt too long to show for this DUP	X	72313833	72607821	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.72313834_72607821dup	VUS	1 lab	2fce219be4
17:70118904 SOX9 A>G	17	70118904	70118904	A	G	SOX9	c.476A>G	NM_000346.4	NP_000337.1:p.(Glu159Gly)	NC_000017.10:g.70118904A>G	VUS	1 lab	2fce55aa93
12:974282 WNK1 C>T	12	974282	974282	C	T	WNK1	c.2146C>T	NM_213655.5	NP_998820.3:p.(Arg716Cys)	NC_000012.11:g.974282C>T	VUS	1 lab	2fcf816d30
6:7583842 DSP T>C	6	7583842	7583842	T	C	DSP	c.6347T>C	NM_004415.4	NP_004406.2:p.(Ile2116Thr)	NC_000006.11:g.7583842T>C	VUS	1 lab	2fd0716eae
4:15599081 CC2D2A C>T	4	15599081	15599081	C	T	CC2D2A	c.4489C>T	NM_001080522.2	NP_001073991.2:p.(Gln1497Ter)	NC_000004.11:g.15599081C>T	(Likely) pathogenic	1 lab	2fd147767c
12:38710819 ALG10B C>T	12	38710819	38710819	C	T	ALG10B	c.124C>T	NM_001013620.4	NP_001013642.2:p.(Leu42=)	NC_000012.11:g.38710819C>T	(Likely) benign	1 lab	2fd38443ab
7:16834563 MISSING Ref too long to show for this DEL>G	7	16834563	16864753	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.16834566_16864753del	VUS	1 lab	2fd55b710d
19:50338453 MED25 C>T	19	50338453	50338453	C	T	MED25	c.1674+19C>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50338453C>T	(Likely) benign	1 lab	2fd855ebe6
1:55505576 PCSK9 C>T	1	55505576	55505576	C	T	PCSK9	c.66C>T	NM_174936.4	NP_777596.2:p.(Leu22=)	NC_000001.10:g.55505576C>T	(Likely) benign	1 lab	2fd8938d9d
2:73677803 ALMS1 A>G	2	73677803	73677803	A	G	ALMS1	c.4152A>G	NM_015120.4	NP_055935.4:p.(Gln1384=)	NC_000002.11:g.73677803A>G	(Likely) benign	1 lab	2fdc41dc40
19:11224397 LDLR C>T	19	11224397	11224397	C	T	LDLR	c.1545C>T	NM_000527.5	NP_000518.1:p.(Asn515=)	NC_000019.9:g.11224397C>T	(Likely) benign	1 lab	2fdd2908eb
7:91667850 AKAP9 C>T	7	91667850	91667850	C	T	AKAP9	c.4456C>T	NM_005751.5	NP_005742.4:p.(His1486Tyr)	NC_000007.13:g.91667850C>T	VUS	1 lab	2fe85e9bd0
17:40696007 NAGLU G>A	17	40696007	40696007	G	A	NAGLU	c.1983G>A	NM_000263.4	NP_000254.2:p.(Lys661=)	NC_000017.10:g.40696007G>A	(Likely) benign	1 lab	2fe91baace
3:38645196 SCN5A G>A	3	38645196	38645196	G	A	SCN5A	c.1890+7C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38645196G>A	(Likely) benign	1 lab	2fecaa8f9a
1:74797156 TNNI3K A>G	1	74797156	74797156	A	G	TNNI3K	c.467A>G	NM_015978.3	NP_057062.1:p.(His156Arg)	NC_000001.10:g.74797156A>G	VUS	1 lab	2ff29d8619
2:25470481 DNMT3A G>A	2	25470481	25470481	G	A	DNMT3A	c.993C>T	NM_022552.5	NP_072046.2:p.(Phe331=)	NC_000002.11:g.25470481G>A	(Likely) benign	1 lab	2ff69cbccd
17:41209063 BRCA1 C>T	17	41209063	41209063	C	T	BRCA1	c.5277+6G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41209063C>T	(Likely) benign	1 lab	2ff981d30e
6:75798807 COL12A1 T>C	6	75798807	75798807	T	C	COL12A1	c.9010+15A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75798807T>C	(Likely) benign	1 lab	2ff9a552dc
2:189862063 COL3A1 G>A	2	189862063	189862063	G	A	COL3A1	c.1817G>A	NM_000090.4	NP_000081.2:p.(Gly606Asp)	NC_000002.11:g.189862063G>A	(Likely) pathogenic	1 lab	2ffac00645
7:151265900 PRKAG2 TGATCAA>T	7	151265900	151265907	TGATCAA	T	PRKAG2	c.1129_1134del	NM_016203.4	NP_057287.2:p.(Leu377_Ile378del)	NC_000007.13:g.151265902_151265907del	(Likely) benign	1 lab	3000977b12
9:139417163 NOTCH1 G>A	9	139417163	139417163	G	A	NOTCH1	c.742+139C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139417163G>A	(Likely) benign	1 lab	30062ec8d7
6:112462623 LAMA4 A>G	6	112462623	112462623	A	G	LAMA4	c.2729T>C	NM_002290.5	NP_002281.3:p.(Ile910Thr)	NC_000006.11:g.112462623A>G	VUS	1 lab	3008ddc9f5
10:25273311 ENKUR G>GA	10	25273311	25273327	G	GA	ENKUR	c.765-7dup	NM_145010.4	NP_659447.1:p.?	NC_000010.10:g.25273327dup	(Likely) benign	1 lab	300a82ae80
6:32011682 TNXB G>A	6	32011682	32011682	G	A	TNXB	c.11381-13C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011682G>A	(Likely) benign	1 lab	300c73746a
10:88469743 LDB3 C>T	10	88469743	88469743	C	T	LDB3	c.1182C>T	NM_001171610.2	NP_001165081.1:p.(Ala394=)	NC_000010.10:g.88469743C>T	(Likely) benign	1 lab	300e3717ac
1:59896352 FGGY Ref too long to show for this DEL>G	1	59896352	59963659	Ref too long to show for this DEL	G	FGGY	c.555-26279_671-14324del	NM_018291.5	NP_060761.3:p.?	NC_000001.10:g.59896354_59963659del	VUS	1 lab	30135085b6
5:82785899 VCAN A>G	5	82785899	82785899	A	G	VCAN	c.71-18A>G	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82785899A>G	(Likely) benign	1 lab	3013626ec0
2:25050407 ADCY3 G>A	2	25050407	25050407	G	A	ADCY3	c.2495+8C>T	NM_004036.5	NP_004027.2:p.?	NC_000002.11:g.25050407G>A	(Likely) benign	1 lab	3015546b42
14:102510932 DYNC1H1 G>A	14	102510932	102510932	G	A	DYNC1H1	c.12903G>A	NM_001376.5	NP_001367.2:p.(Arg4301=)	NC_000014.8:g.102510932G>A	VUS	1 lab	301ec78cef
11:64693347 PPP2R5B C>A	11	64693347	64693347	C	A	PPP2R5B	c.141C>A	NM_006244.4	NP_006235.1:p.(Ser47=)	NC_000011.9:g.64693347C>A	(Likely) benign	1 lab	3020239e4c
11:88924463 TYR GAC>G	11	88924463	88924466	GAC	G	TYR	c.915_916del	NM_000372.5	NP_000363.1:p.(Asp305GlufsTer12)	NC_000011.9:g.88924465_88924466del	(Likely) pathogenic	1 lab	3022039612
14:23852435 MYH6 G>A	14	23852435	23852435	G	A	MYH6	c.5660C>T	NM_002471.4	NP_002462.2:p.(Ala1887Val)	NC_000014.8:g.23852435G>A	VUS	1 lab	302209eb04
1:10083570 MISSING Ref too long to show for this DEL>G	1	10083570	10102999	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.10083571_10102999del	VUS	1 lab	30260bc70e
3:38798377 SCN10A G>A	3	38798377	38798377	G	A	SCN10A	c.1093-15C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38798377G>A	(Likely) benign	1 lab	320bae67ad
2:220502291 SLC4A3 A>G	2	220502291	220502291	A	G	SLC4A3	c.2617-12A>G	NM_201574.3	NP_963868.3:p.?	NC_000002.11:g.220502291A>G	(Likely) benign	1 lab	3028cac24f
X:32364159 DMD T>C	X	32364159	32364159	T	C	DMD	c.5487A>G	NM_004006.3	NP_003997.2:p.(Gln1829=)	NC_000023.10:g.32364159T>C	(Likely) benign	1 lab	302e44b34a
9:107589947 ABCA1 G>C	9	107589947	107589947	G	C	ABCA1	c.2116-497C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589947G>C	(Likely) benign	1 lab	3030756239
16:1005025 LMF1 G>C	16	1005025	1005025	G	C	LMF1	c.-361-359C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005025G>C	(Likely) benign	1 lab	30332db2d6
6:65767635 EYS A>G	6	65767635	65767635	A	G	EYS	c.2024-15T>C	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65767635A>G	(Likely) benign	1 lab	3034bc5e30
12:2693803 CACNA1C C>A	12	2693803	2693803	C	A	CACNA1C	c.2339+20C>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2693803C>A	(Likely) benign	1 lab	3034d77f27
3:38627009 SCN5A G>A	3	38627009	38627009	G	A	SCN5A	c.2787+173C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627009G>A	(Likely) benign	1 lab	30354b872a
14:23894031 MYH7 TCTC>T	14	23894031	23894038	TCTC	T	MYH7	c.2623_2625del	NM_000257.4	NP_000248.2:p.(Glu875del)	NC_000014.8:g.23894036_23894038del	VUS	1 lab	303a14858f
X:31645925 DMD G>A	X	31645925	31645925	G	A	DMD	c.8082C>T	NM_004006.3	NP_003997.2:p.(Phe2694=)	NC_000023.10:g.31645925G>A	(Likely) benign	1 lab	303c9b7267
16:2125765 TSC2 C>T	16	2125765	2125765	C	T	TSC2	c.2546-35C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2125765C>T	(Likely) benign	1 lab	3045a906a4
3:78689054 ROBO1 T>TA	3	78689054	78689064	T	TA	ROBO1	c.2748-7dup	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78689064dup	(Likely) benign	1 lab	30473bd5b9
6:75857371 COL12A1 AATTTT>A	6	75857371	75857376	AATTTT	A	COL12A1	c.4417+15_4417+19del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75857372_75857376del	(Likely) benign	1 lab	3048a2ab3e
14:102910170 TECPR2 G>A	14	102910170	102910170	G	A	TECPR2	c.2933+6G>A	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102910170G>A	(Likely) benign	1 lab	3049ba4cdc
22:46776747 CELSR1 G>A	22	46776747	46776747	G	A	CELSR1	c.7194C>T	NM_001378328.1	NP_001365257.1:p.(Phe2398=)	NC_000022.10:g.46776747G>A	(Likely) benign	1 lab	304a0f3139
5:178581198 ADAMTS2 G>A	5	178581198	178581198	G	A	ADAMTS2	c.1239-5C>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178581198G>A	(Likely) benign	1 lab	304b593bf6
1:237961332 RYR2 C>G	1	237961332	237961332	C	G	RYR2	c.13957-5C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237961332C>G	(Likely) benign	1 lab	304c694a3a
22:49096786 TAFA5 C>Alt too long to show for this DUP	22	49096786	49119384	C	Alt too long to show for this DUP	TAFA5	c.263-6742_390+15728dup	NM_001082967.3	NP_001076436.1:p.?	NC_000022.10:g.49096787_49119384dup	VUS	1 lab	304d18a02b
1:237494250 RYR2 A>C	1	237494250	237494250	A	C	RYR2	c.241A>C	NM_001035.3	NP_001026.2:p.(Met81Leu)	NC_000001.10:g.237494250A>C	(Likely) pathogenic	1 lab	3050393d26
2:179589178 TTN G>A	2	179589178	179589178	G	A	TTN	c.20924C>T	NM_001267550.2	NP_001254479.2:p.(Pro6975Leu)	NC_000002.11:g.179589178G>A	VUS	1 lab	3055c012fb
3:38968364 SCN11A A>C	3	38968364	38968364	A	C	SCN11A	c.547T>G	NM_014139.3	NP_054858.2:p.(Phe183Val)	NC_000003.11:g.38968364A>C	VUS	1 lab	305adb90b7
12:11286336 TAS2R30 T>G	12	11286336	11286336	T	G	TAS2R30	c.508A>C	NM_001097643.1	NP_001091112.1:p.(Ser170Arg)	NC_000012.11:g.11286336T>G	(Likely) benign	1 lab	305f29c4dc
12:125296435 SCARB1 TTGTCCAC>T	12	125296435	125296442	TTGTCCAC	T	SCARB1	c.700_706del	NM_005505.5	NP_005496.4:p.(Val234SerfsTer5)	NC_000012.11:g.125296436_125296442del	VUS	1 lab	306342f4c2
1:153791267 GATAD2B C>T	1	153791267	153791267	C	T	GATAD2B	c.597G>A	NM_020699.4	NP_065750.1:p.(Lys199=)	NC_000001.10:g.153791267C>T	(Likely) pathogenic	1 lab	3064639eee
1:1724686 GNB1 C>T	1	1724686	1724686	C	T	GNB1	c.495G>A	NM_002074.5	NP_002065.1:p.(Thr165=)	NC_000001.10:g.1724686C>T	(Likely) benign	1 lab	30661ed706
9:107581007 ABCA1 T>G	9	107581007	107581007	T	G	ABCA1	c.3399A>C	NM_005502.4	NP_005493.2:p.(Lys1133Asn)	NC_000009.11:g.107581007T>G	VUS	1 lab	306c6f8010
2:15448469 NBAS A>G	2	15448469	15448469	A	G	NBAS	c.4668T>C	NM_015909.4	NP_056993.2:p.(Asp1556=)	NC_000002.11:g.15448469A>G	(Likely) benign	1 lab	3072a63351
4:100534050 MTTP A>ATTT	4	100534050	100534053	A	ATTT	MTTP	c.1990-18_1990-17insTTT	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534052_100534053insTTT	(Likely) benign	1 lab	30733a0e48
15:50862118 TRPM7 G>A	15	50862118	50862118	G	A	TRPM7	c.5433C>T	NM_017672.6	NP_060142.3:p.(His1811=)	NC_000015.9:g.50862118G>A	(Likely) benign	1 lab	3074264aa5
6:56371270 DST C>T	6	56371270	56371270	C	T	DST	c.19435G>A	NM_001374736.1	NP_001361665.1:p.(Ala6479Thr)	NC_000006.11:g.56371270C>T	VUS	1 lab	307786bbd0
X:54584985 GNL3L C>T	X	54584985	54584985	C	T	GNL3L	c.1563C>T	NM_001184819.2	NP_001171748.1:p.(Asp521=)	NC_000023.10:g.54584985C>T	(Likely) benign	1 lab	3078d2b588
1:156849053 NTRK1 C>T	1	156849053	156849053	C	T	NTRK1	c.1945C>T	NM_002529.4	NP_002520.2:p.(Arg649Trp)	NC_000001.10:g.156849053C>T	(Likely) pathogenic	1 lab	307b98294a
16:1642461 IFT140 C>T	16	1642461	1642461	C	T	IFT140	c.491+7G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1642461C>T	(Likely) benign	1 lab	307c59c1cc
X:132888207 GPC3 TAAA>T	X	132888207	132888223	TAAA	T	GPC3	c.338-7_338-5del	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132888221_132888223del	(Likely) benign	1 lab	30865e55ee
19:17738658 UNC13A C>T	19	17738658	17738658	C	T	UNC13A	c.3831+14G>A	NM_001080421.3	NP_001073890.2:p.?	NC_000019.9:g.17738658C>T	(Likely) benign	1 lab	308c2ceef4
3:132406073 NPHP3 TA>T	3	132406073	132406082	TA	T	NPHP3	c.3126-4del	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132406082del	(Likely) benign	1 lab	308dc45c0d
15:48788306 FBN1 T>C	15	48788306	48788306	T	C	FBN1	c.2410A>G	NM_000138.5	NP_000129.3:p.(Thr804Ala)	NC_000015.9:g.48788306T>C	VUS	1 lab	308e58596a
1:116311163 CASQ2 T>C	1	116311163	116311163	T	C	CASQ2	c.-1A>G	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116311163T>C	VUS	1 lab	3090186bbe
2:179440602 TTN G>A	2	179440602	179440602	G	A	TTN	c.62553C>T	NM_133378.4	NP_596869.4:p.(Asn20851=)	NC_000002.11:g.179440602G>A	(Likely) benign	1 lab	309a3df355
14:88450888 GALC A>C	14	88450888	88450888	A	C	GALC	c.443-11T>G	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88450888A>C	(Likely) benign	1 lab	309ba8e40c
20:62664184 PRPF6 G>T	20	62664184	62664184	G	T	PRPF6	c.2674-10G>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62664184G>T	(Likely) benign	1 lab	30a1f617f0
4:154212023 TRIM2 C>T	4	154212023	154212023	C	T	TRIM2	c.511C>T	NM_001375488.1	NP_001362417.1:p.(Leu171Phe)	NC_000004.11:g.154212023C>T	(Likely) benign	1 lab	30a244d965
7:138603662 KIAA1549 C>A	7	138603662	138603662	C	A	KIAA1549	c.710G>T	NM_001164665.2	NP_001158137.1:p.(Arg237Leu)	NC_000007.13:g.138603662C>A	(Likely) benign	1 lab	30a58bae1c
2:24916105 NCOA1 G>A	2	24916105	24916105	G	A	NCOA1	c.713-16G>A	NM_001362950.1	NP_001349879.1:p.?	NC_000002.11:g.24916105G>A	(Likely) benign	1 lab	30a5ba9403
7:74198088 MISSING Ref too long to show for this DEL>T	7	74198088	74209680	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.74198091_74209680del	VUS	1 lab	30a9aa530c
2:219678919 CYP27A1 G>T	2	219678919	219678919	G	T	CYP27A1	c.1184+9G>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219678919G>T	(Likely) benign	1 lab	30ae254fa2
2:109374959 RANBP2 G>A	2	109374959	109374959	G	A	RANBP2	c.2557G>A	NM_006267.5	NP_006258.3:p.(Asp853Asn)	NC_000002.11:g.109374959G>A	VUS	1 lab	30ae3f9f6e
1:201419599 MISSING Ref too long to show for this DEL>C	1	201419599	201520949	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.201419602_201520949del	VUS	1 lab	30af9eba96
19:42269763 MISSING Ref too long to show for this DEL>C	19	42269763	42305801	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.42269766_42305801del	VUS	1 lab	30b7d82083
4:126239174 FAT4 C>T	4	126239174	126239174	C	T	FAT4	c.1608C>T	NM_001291303.3	NP_001278232.1:p.(Ser536=)	NC_000004.11:g.126239174C>T	(Likely) benign	1 lab	30b9c9da3c
11:88911878 TYR G>A	11	88911878	88911878	G	A	TYR	c.757G>A	NM_000372.5	NP_000363.1:p.(Gly253Arg)	NC_000011.9:g.88911878G>A	(Likely) pathogenic	1 lab	30c1d91e01
4:185686501 ACSL1 Ref too long to show for this DEL>T	4	185686501	185699295	Ref too long to show for this DEL	T	ACSL1	c.478-1156_1360-423del	NM_001995.5	NP_001986.2:p.?	NC_000004.11:g.185686504_185699295del	VUS	1 lab	30c78df8b8
2:63631749 WDPCP C>T	2	63631749	63631749	C	T	WDPCP	c.869G>A	NM_015910.7	NP_056994.3:p.(Arg290His)	NC_000002.11:g.63631749C>T	(Likely) benign	1 lab	30cbe9c19e
7:81746466 CACNA2D1 T>C	7	81746466	81746466	T	C	CACNA2D1	c.420A>G	NM_000722.4	NP_000713.2:p.(Pro140=)	NC_000007.13:g.81746466T>C	(Likely) benign	1 lab	30cc2d935c
14:55369132 GCH1 C>T	14	55369132	55369132	C	T	GCH1	c.250G>A	NM_000161.3	NP_000152.1:p.(Glu84Lys)	NC_000014.8:g.55369132C>T	(Likely) pathogenic	1 lab	30cd18f7ce
1:103488936 COL11A1 T>A	1	103488936	103488936	T	A	COL11A1	c.991-384A>T	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103488936T>A	(Likely) benign	1 lab	30cda1ef51
2:1418294 TPO C>T	2	1418294	1418294	C	T	TPO	c.94+20C>T	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1418294C>T	(Likely) benign	1 lab	30d0e2c01b
1:156105752 LMNA ACCAGC>A	1	156105752	156105758	ACCAGC	A	LMNA	c.999_1003del	NM_170707.4	NP_733821.1:p.(Ser334AlafsTer90)	NC_000001.10:g.156105754_156105758del	(Likely) pathogenic	1 lab	30d3eec9c6
11:33041369 MISSING G>Alt too long to show for this DUP	11	33041369	33488762	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.33041370_33488762dup	(Likely) pathogenic	1 lab	30d8b88814
15:58853171 LIPC C>T	15	58853171	58853171	C	T	LIPC	c.1160C>T	NM_000236.3	NP_000227.2:p.(Pro387Leu)	NC_000015.9:g.58853171C>T	VUS	1 lab	30d9f8b1ed
16:1020844 LMF1 G>C	16	1020844	1020844	G	C	LMF1	c.137C>G	NM_022773.4	NP_073610.2:p.(Thr46Arg)	NC_000016.9:g.1020844G>C	VUS	1 lab	30dc63be77
20:2640195 IDH3B C>T	20	2640195	2640195	C	T	IDH3B	c.1047G>A	NM_006899.5	NP_008830.2:p.(Val349=)	NC_000020.10:g.2640195C>T	(Likely) benign	1 lab	30e160c253
11:121460014 SORL1 G>C	11	121460014	121460014	G	C	SORL1	c.3993G>C	NM_003105.6	NP_003096.2:p.(Gln1331His)	NC_000011.9:g.121460014G>C	(Likely) benign	1 lab	30e7038ad4
2:219676973 CYP27A1 C>T	2	219676973	219676973	C	T	CYP27A1	c.475C>T	NM_000784.4	NP_000775.1:p.(Gln159Ter)	NC_000002.11:g.219676973C>T	(Likely) pathogenic	1 lab	30e9ae01a8
15:73615130 HCN4 G>A	15	73615130	73615130	G	A	HCN4	c.3304C>T	NM_005477.3	NP_005468.1:p.(Arg1102Cys)	NC_000015.9:g.73615130G>A	VUS	1 lab	30ebe1234d
17:75398396 SEPTIN9 C>T	17	75398396	75398396	C	T	SEPTIN9	c.278C>T	NM_006640.5	NP_006631.2:p.(Ser93Phe)	NC_000017.10:g.75398396C>T	(Likely) pathogenic	1 lab	30ec7e45ba
9:130221290 LRSAM1 T>G	9	130221290	130221290	T	G	LRSAM1	c.261T>G	NM_001384142.1	NP_001371071.1:p.(Asp87Glu)	NC_000009.11:g.130221290T>G	VUS	1 lab	30ec83c8e2
12:112036778 ATXN2 GC>G	12	112036778	112036779	GC	G	ATXN2	c.60del	NM_002973.4	NP_002964.4:p.(Gln20HisfsTer26)	NC_000012.11:g.112036779del	(Likely) benign	1 lab	30ee55977b
5:95734622 PCSK1 G>A	5	95734622	95734622	G	A	PCSK1	c.1549C>T	NM_000439.5	NP_000430.3:p.(Arg517Ter)	NC_000005.9:g.95734622G>A	(Likely) pathogenic	1 lab	30f4559ee5
12:122261382 SETD1B A>G	12	122261382	122261382	A	G	SETD1B	c.4897A>G	NM_001353345.2	NP_001340274.1:p.(Met1633Val)	NC_000012.11:g.122261382A>G	VUS	1 lab	30fc01010f
11:68679067 IGHMBP2 T>G	11	68679067	68679067	T	G	IGHMBP2	c.707T>G	NM_002180.3	NP_002171.2:p.(Leu236Ter)	NC_000011.9:g.68679067T>G	(Likely) pathogenic	1 lab	30fe5b0ab4
8:140744252 TRAPPC9 G>A	8	140744252	140744252	G	A	TRAPPC9	c.3222C>T	NM_001321646.2	NP_001308575.1:p.(Phe1074=)	NC_000008.10:g.140744252G>A	(Likely) benign	1 lab	30ffd920a3
16:918781 LMF1 G>T	16	918781	918781	G	T	LMF1	c.1529+163C>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.918781G>T	(Likely) benign	1 lab	3100654fc8
2:44100940 ABCG8 A>G	2	44100940	44100940	A	G	ABCG8	c.1226A>G	NM_022437.3	NP_071882.1:p.(Asn409Ser)	NC_000002.11:g.44100940A>G	VUS	1 lab	31008390a1
10:47087735 NPY4R A>G	10	47087735	47087735	A	G	NPY4R	c.952A>G	NM_005972.6	NP_005963.4:p.(Asn318Asp)	NC_000010.10:g.47087735A>G	(Likely) benign	1 lab	3101febffa
14:91755668 CCDC88C C>T	14	91755668	91755668	C	T	CCDC88C	c.4222G>A	NM_001080414.4	NP_001073883.2:p.(Ala1408Thr)	NC_000014.8:g.91755668C>T	VUS	1 lab	3103af8bc3
11:47359274 MYBPC3 G>T	11	47359274	47359274	G	T	MYBPC3	c.2380C>A	NM_000256.3	NP_000247.2:p.(Pro794Thr)	NC_000011.9:g.47359274G>T	VUS	1 lab	3106634788
8:19796745 LPL G>A	8	19796745	19796745	G	A	LPL				NC_000008.10:g.19796745G>A	(Likely) benign	1 lab	3106f7e3c4
8:144991176 PLEC T>C	8	144991176	144991176	T	C	PLEC	c.13224A>G	NM_201380.4	NP_958782.1:p.(Ser4408=)	NC_000008.10:g.144991176T>C	(Likely) benign	1 lab	310cdfb411
7:103270629 RELN G>GA	7	103270629	103270640	G	GA	RELN	c.2466-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103270640dup	(Likely) benign	1 lab	310fc9f565
2:1500393 TPO G>A	2	1500393	1500393	G	A	TPO	c.2242G>A	NM_000547.6	NP_000538.3:p.(Val748Met)	NC_000002.11:g.1500393G>A	(Likely) benign	1 lab	3111c72dbd
2:179516622 TTN G>T	2	179516622	179516622	G	T	TTN	c.39368C>A	NM_001267550.2	NP_001254479.2:p.(Ala13123Glu)	NC_000002.11:g.179516622G>T	VUS	1 lab	31132c85fd
11:68702864 IGHMBP2 T>C	11	68702864	68702864	T	C	IGHMBP2	c.1730T>C	NM_002180.3	NP_002171.2:p.(Leu577Pro)	NC_000011.9:g.68702864T>C	(Likely) pathogenic	1 lab	3114c35ba6
7:33195329 BBS9 TACCAATGTAGAA>T	7	33195329	33195341	TACCAATGTAGAA	T	BBS9	c.328+16_328+27del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33195330_33195341del	(Likely) benign	1 lab	311df833b2
11:116661130 APOA5 G>A	11	116661130	116661130	G	A	APOA5	c.815C>T	NM_052968.5	NP_443200.2:p.(Pro272Leu)	NC_000011.9:g.116661130G>A	VUS	1 lab	312612b247
2:47612436 EPCAM A>C	2	47612436	47612436	A	C	EPCAM	c.903+87A>C	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47612436A>C	(Likely) benign	1 lab	3126875d34
16:1005019 LMF1 T>C	16	1005019	1005019	T	C	LMF1	c.194-353A>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1005019T>C	(Likely) benign	1 lab	3127aaf19b
11:85383060 MISSING Ref too long to show for this DEL>C	11	85383060	85641618	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.85383064_85641618del	VUS	1 lab	3129c05c89
10:121411289 BAG3 C>A	10	121411289	121411289	C	A	BAG3	c.102C>A	NM_004281.4	NP_004272.2:p.(Thr34=)	NC_000010.10:g.121411289C>A	(Likely) benign	1 lab	312f049a69
6:152730328 SYNE1 G>A	6	152730328	152730328	G	A	SYNE1	c.6415C>T	NM_182961.4	NP_892006.3:p.(Gln2139Ter)	NC_000006.11:g.152730328G>A	(Likely) pathogenic	1 lab	313225e741
2:21226111 APOB C>T	2	21226111	21226111	C	T	APOB	c.12183G>A	NM_000384.3	NP_000375.3:p.(Glu4061=)	NC_000002.11:g.21226111C>T	(Likely) benign	1 lab	31403d5b2f
12:64218359 MISSING G>Alt too long to show for this DUP	12	64218359	64588545	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.64218360_64588545dup	VUS	1 lab	3142a5666b
3:184041676 EIF4G1 A>C	3	184041676	184041676	A	C	EIF4G1	c.2386A>C	NM_182917.4	NP_886553.3:p.(Lys796Gln)	NC_000003.11:g.184041676A>C	(Likely) benign	1 lab	3142a880dd
19:41133268 LTBP4 C>T	19	41133268	41133268	C	T	LTBP4	c.4456+8C>T	NM_003573.2	NP_003564.2:p.?	NC_000019.9:g.41133268C>T	(Likely) benign	1 lab	3144e5ee47
1:25890247 LDLRAP1 C>T	1	25890247	25890247	C	T	LDLRAP1	c.712C>T	NM_015627.3	NP_056442.2:p.(Arg238Trp)	NC_000001.10:g.25890247C>T	(Likely) benign	1 lab	31459d8a49
16:81385264 GAN G>T	16	81385264	81385264	G	T	GAN	c.244G>T	NM_022041.4	NP_071324.1:p.(Val82Phe)	NC_000016.9:g.81385264G>T	(Likely) pathogenic	1 lab	3148d2db5f
2:179545038 TTN C>G	2	179545038	179545038	C	G	TTN	c.33361G>C	NM_001267550.2	NP_001254479.2:p.(Val11121Leu)	NC_000002.11:g.179545038C>G	VUS	1 lab	314a1771bf
15:48808373 FBN1 T>C	15	48808373	48808373	T	C	FBN1	c.1327+7A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48808373T>C	(Likely) benign	1 lab	314a9aae89
18:25593857 CDH2 G>A	18	25593857	25593857	G	A	CDH2	c.189C>T	NM_001792.5	NP_001783.2:p.(Cys63=)	NC_000018.9:g.25593857G>A	(Likely) benign	1 lab	314b5eb1ed
16:88788709 PIEZO1 T>C	16	88788709	88788709	T	C	PIEZO1	c.4872A>G	NM_001142864.4	NP_001136336.2:p.(Ala1624=)	NC_000016.9:g.88788709T>C	(Likely) benign	1 lab	314ed69360
2:179394795 TTN A>T	2	179394795	179394795	A	T	TTN	c.98719T>A	NM_133378.4	NP_596869.4:p.(Phe32907Ile)	NC_000002.11:g.179394795A>T	(Likely) benign	1 lab	314f4015eb
19:10273355 DNMT1 G>A	19	10273355	10273355	G	A	DNMT1	c.996C>T	NM_001130823.3	NP_001124295.1:p.(Asp332=)	NC_000019.9:g.10273355G>A	(Likely) benign	1 lab	31504b5a07
5:58295380 PDE4D G>GTATA	5	58295380	58295395	G	GTATA	PDE4D	c.-21_-18dup	NM_001197223.2	NP_001184152.1:p.?	NC_000005.9:g.58295392_58295395dup	(Likely) benign	1 lab	315116edcb
X:48308003 MISSING A>Alt too long to show for this DUP	X	48308003	48313203	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.48308005_48313203dup	VUS	1 lab	31520a2dfa
9:137591885 COL5A1 C>T	9	137591885	137591885	C	T	COL5A1	c.408C>T	NM_000093.5	NP_000084.3:p.(Pro136=)	NC_000009.11:g.137591885C>T	(Likely) benign	1 lab	31526e10c9
11:129817155 PRDM10 T>C	11	129817155	129817155	T	C	PRDM10	c.405A>G	NM_020228.3	NP_064613.2:p.(Glu135=)	NC_000011.9:g.129817155T>C	(Likely) benign	1 lab	315adfd36b
19:11348310 DOCK6 G>A	19	11348310	11348310	G	A	DOCK6	c.1971+7C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11348310G>A	(Likely) benign	1 lab	315d6a7902
2:242402806 FARP2 G>C	2	242402806	242402806	G	C	FARP2	c.1734G>C	NM_014808.4	NP_055623.1:p.(Leu578=)	NC_000002.11:g.242402806G>C	(Likely) benign	1 lab	315d956812
1:240370965 FMN2 G>A	1	240370965	240370965	G	A	FMN2	c.2865G>A	NM_001305424.2	NP_001292353.1:p.(Ala955=)	NC_000001.10:g.240370965G>A	(Likely) benign	1 lab	315e706563
1:201029810 CACNA1S G>C	1	201029810	201029810	G	C	CACNA1S	c.3390C>G	NM_000069.3	NP_000060.2:p.(Leu1130=)	NC_000001.10:g.201029810G>C	(Likely) benign	1 lab	315e89afc9
1:12069709 MFN2 G>A	1	12069709	12069709	G	A	MFN2	c.2130G>A	NM_014874.4	NP_055689.1:p.(Leu710=)	NC_000001.10:g.12069709G>A	(Likely) benign	1 lab	31621ff09d
X:70443622 GJB1 G>C	X	70443622	70443622	G	C	GJB1	c.65G>C	NM_000166.6	NP_000157.1:p.(Arg22Pro)	NC_000023.10:g.70443622G>C	(Likely) pathogenic	1 lab	3166e96ff9
6:16141602 MYLIP A>G	6	16141602	16141602	A	G	MYLIP	c.279-254A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16141602A>G	(Likely) benign	1 lab	3169ce4a42
6:162661759 MISSING G>Alt too long to show for this DUP	6	162661759	163160133	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.162661762_163160133dup	VUS	1 lab	316ac3cf26
10:69959315 MYPN T>A	10	69959315	69959315	T	A	MYPN	c.3476T>A	NM_032578.4	NP_115967.2:p.(Leu1159Gln)	NC_000010.10:g.69959315T>A	VUS	1 lab	316ca0b3f7
11:116706547 APOA1 T>C	11	116706547	116706547	T	C	APOA1	c.454A>G	NM_001318021.1	NP_001304950.1:p.(Thr152Ala)	NC_000011.9:g.116706547T>C	(Likely) benign	1 lab	316cb05e7f
19:39078031 RYR1 C>T	19	39078031	39078031	C	T	RYR1	c.15088C>T	NM_000540.3	NP_000531.2:p.(Arg5030Cys)	NC_000019.9:g.39078031C>T	VUS	1 lab	317071f4b3
10:100182117 HPS1 A>G	10	100182117	100182117	A	G	HPS1	c.1743+9T>C	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100182117A>G	(Likely) benign	1 lab	317550bc85
9:107555057 ABCA1 ACT>A	9	107555057	107555064	ACT	A	ABCA1	c.5757+8_5757+9del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555063_107555064del	(Likely) benign	1 lab	317605583c
3:33161847 CRTAP C>G	3	33161847	33161847	C	G	CRTAP	c.483C>G	NM_006371.5	NP_006362.1:p.(Leu161=)	NC_000003.11:g.33161847C>G	(Likely) benign	1 lab	317863305e
2:179531553 TTN G>C	2	179531553	179531553	G	C	TTN	c.35873C>G	NM_001267550.2	NP_001254479.2:p.(Thr11958Arg)	NC_000002.11:g.179531553G>C	(Likely) benign	1 lab	317bb24902
X:115574597 SLC6A14 Ref too long to show for this DEL>G	X	115574597	115589080	Ref too long to show for this DEL	G	SLC6A14	c.509-212_1782+138del	NM_007231.5	NP_009162.1:p.?	NC_000023.10:g.115574599_115589080del	VUS	1 lab	317d71cee7
19:11227455 LDLR G>A	19	11227455	11227455	G	A	LDLR	c.1706-80G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227455G>A	(Likely) benign	1 lab	317dc8f6f7
17:15142929 PMP22 C>G	17	15142929	15142929	C	G	PMP22	c.179-1G>C	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15142929C>G	(Likely) pathogenic	1 lab	3379ac1ea6
14:36987111 NKX2-1 TTCC>T	14	36987111	36987115	TTCC	T	NKX2-1	c.485_487del	NM_003317.4	NP_003308.1:p.(Arg162del)	NC_000014.8:g.36987113_36987115del	(Likely) pathogenic	1 lab	3182d8e5fe
1:1452592 ATAD3A T>C	1	1452592	1452592	T	C	ATAD3A	c.328T>C	NM_018188.5	NP_060658.3:p.(Trp110Arg)	NC_000001.10:g.1452592T>C	(Likely) benign	1 lab	3413e3d600
5:127653982 FBN2 A>G	5	127653982	127653982	A	G	FBN2	c.4595-19T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653982A>G	(Likely) benign	1 lab	3185cad6e4
10:94620320 EXOC6 Ref too long to show for this DEL>C	10	94620320	94632227	Ref too long to show for this DEL	C	EXOC6	c.101+11930_102-20879del	NM_019053.6	NP_061926.3:p.?	NC_000010.10:g.94620321_94632227del	VUS	1 lab	31873b8de8
19:4090637 MAP2K2 G>A	19	4090637	4090637	G	A	MAP2K2	c.1162C>T	NM_030662.4	NP_109587.1:p.(Arg388Trp)	NC_000019.9:g.4090637G>A	(Likely) benign	1 lab	3189d64677
17:61743604 MAP3K3 Ref too long to show for this DEL>G	17	61743604	61754642	Ref too long to show for this DEL	G	MAP3K3	c.382-694_503-4484del	NM_002401.5	NP_002392.2:p.?	NC_000017.10:g.61743606_61754642del	VUS	1 lab	318aac3969
1:1930865 MISSING G>Alt too long to show for this DUP	1	1930865	1970886	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.1930869_1970886dup	VUS	1 lab	318c0223a1
16:29432211 MISSING Ref too long to show for this DEL>C	16	29432211	30190029	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29432212_30190029del	(Likely) pathogenic	1 lab	318dad8638
X:74651359 ZDHHC15 T>TA	X	74651359	74651370	T	TA	ZDHHC15	c.380-5dup	NM_144969.3	NP_659406.1:p.?	NC_000023.10:g.74651370dup	(Likely) benign	1 lab	318dc8c018
8:19813479 LPL C>G	8	19813479	19813479	C	G	LPL	c.903C>G	NM_000237.3	NP_000228.1:p.(Leu301=)	NC_000008.10:g.19813479C>G	(Likely) benign	1 lab	318dd6749c
1:94473771 ABCA4 G>A	1	94473771	94473771	G	A	ABCA4	c.5898+20C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94473771G>A	(Likely) benign	1 lab	3194abbdca
7:104749579 KMT2E C>T	7	104749579	104749579	C	T	KMT2E	c.3659C>T	NM_182931.3	NP_891847.1:p.(Pro1220Leu)	NC_000007.13:g.104749579C>T	VUS	1 lab	31994aae70
16:984241 LMF1 T>C	16	984241	984241	T	C	LMF1	c.-189A>G	NM_001352021.2	NP_001338950.1:p.?	NC_000016.9:g.984241T>C	(Likely) benign	1 lab	319b7735d8
11:108199849 ATM A>G	11	108199849	108199849	A	G	ATM	c.7191A>G	NM_000051.4	NP_000042.3:p.(Gln2397=)	NC_000011.9:g.108199849A>G	(Likely) benign	1 lab	31a26cda64
1:12030875 PLOD1 T>C	1	12030875	12030875	T	C	PLOD1	c.1902+2T>C	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12030875T>C	(Likely) pathogenic	1 lab	31a33141c8
18:34349300 FHOD3 T>C	18	34349300	34349300	T	C	FHOD3	c.4697T>C	NM_001281740.3	NP_001268669.1:p.(Met1566Thr)	NC_000018.9:g.34349300T>C	VUS	1 lab	31a575fcf3
2:200178790 SATB2 Ref too long to show for this DEL>A	2	200178790	200185917	Ref too long to show for this DEL	A	SATB2	c.1542+2611_1543-5111del	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200178793_200185917del	VUS	1 lab	31a5a4cec5
13:23808782 SGCG T>C	13	23808782	23808782	T	C	SGCG	c.228T>C	NM_000231.3	NP_000222.2:p.(Asp76=)	NC_000013.10:g.23808782T>C	(Likely) benign	1 lab	31a5b87771
10:67680275 CTNNA3 C>T	10	67680275	67680275	C	T	CTNNA3	c.2501G>A	NM_013266.4	NP_037398.2:p.(Arg834Gln)	NC_000010.10:g.67680275C>T	VUS	1 lab	31a78e6baa
14:105707747 BRF1 C>T	14	105707747	105707747	C	T	BRF1	c.549G>A	NM_001519.4	NP_001510.2:p.(Pro183=)	NC_000014.8:g.105707747C>T	(Likely) benign	1 lab	31a91314d8
15:52917471 ATOSA A>Alt too long to show for this DUP	15	52917471	52966082	A	Alt too long to show for this DUP	ATOSA	c.16+4121_17-11418dup	NM_001385016.1	NP_001371945.1:p.?	NC_000015.9:g.52917472_52966082dup	VUS	1 lab	31ae731f56
21:44485373 CBS C>T	21	44485373	44485373	C	T	CBS	c.676G>A	NM_000071.3	NP_000062.1:p.(Ala226Thr)	NC_000021.8:g.44485373C>T	(Likely) pathogenic	1 lab	31afa471a0
7:94041593 COL1A2 A>G	7	94041593	94041593	A	G	COL1A2	c.1404+160A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94041593A>G	(Likely) benign	1 lab	31afbd289d
2:29294722 PCARE T>C	2	29294722	29294722	T	C	PCARE	c.2406A>G	NM_001029883.3	NP_001025054.1:p.(Ala802=)	NC_000002.11:g.29294722T>C	(Likely) benign	1 lab	31b3d85c4d
2:179641701 TTN C>T	2	179641701	179641701	C	T	TTN	c.4890G>A	NM_001267550.2	NP_001254479.2:p.(Ala1630=)	NC_000002.11:g.179641701C>T	(Likely) benign	1 lab	31b9d0e75a
11:117266368 CEP164 C>T	11	117266368	117266368	C	T	CEP164	c.3019C>T	NM_014956.5	NP_055771.4:p.(Arg1007Cys)	NC_000011.9:g.117266368C>T	VUS	1 lab	31bcf5f21a
11:121466405 SORL1 G>A	11	121466405	121466405	G	A	SORL1	c.4443G>A	NM_003105.6	NP_003096.2:p.(Pro1481=)	NC_000011.9:g.121466405G>A	(Likely) benign	1 lab	31c402f9d8
7:33148820 RP9 G>A	7	33148820	33148820	G	A	RP9	c.152+13C>T	NM_203288.2	NP_976033.1:p.?	NC_000007.13:g.33148820G>A	(Likely) benign	1 lab	31c4afc547
2:24980955 NCOA1 A>G	2	24980955	24980955	A	G	NCOA1	c.3995A>G	NM_001362950.1	NP_001349879.1:p.(Asn1332Ser)	NC_000002.11:g.24980955A>G	(Likely) benign	1 lab	31c5bda4fb
7:112108067 IFRD1 C>T	7	112108067	112108067	C	T	IFRD1	c.938C>T	NM_001550.4	NP_001541.2:p.(Thr313Met)	NC_000007.13:g.112108067C>T	(Likely) benign	1 lab	31c6f441e1
9:27548294 C9orf72 A>G	9	27548294	27548294	A	G	C9orf72	c.1386T>C	NM_001256054.3	NP_001242983.1:p.(Phe462=)	NC_000009.11:g.27548294A>G	(Likely) benign	1 lab	31c7570248
5:127731178 FBN2 G>T	5	127731178	127731178	G	T	FBN2	c.1079-211C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127731178G>T	(Likely) benign	1 lab	31c9a5f6c3
19:11216229 LDLR G>A	19	11216229	11216229	G	A	LDLR	c.647G>A	NM_000527.5	NP_000518.1:p.(Cys216Tyr)	NC_000019.9:g.11216229G>A	(Likely) pathogenic	1 lab	31cc0e703d
2:179498760 TTN C>A	2	179498760	179498760	C	A	TTN	c.42466G>T	NM_001267550.2	NP_001254479.2:p.(Gly14156Cys)	NC_000002.11:g.179498760C>A	VUS	1 lab	31d4a050a6
20:2644793 IDH3B C>T	20	2644793	2644793	C	T	IDH3B	c.36+6G>A	NM_006899.5	NP_008830.2:p.?	NC_000020.10:g.2644793C>T	(Likely) benign	1 lab	31d5d0b12b
16:21854815 NPIPB4 C>T	16	21854815	21854815	C	T	NPIPB4	c.437G>A	NM_001310148.2	NP_001297077.1:p.(Arg146Gln)	NC_000016.9:g.21854815C>T	(Likely) benign	1 lab	31d7581965
13:103514084 ERCC5 A>G	13	103514084	103514084	A	G	ERCC5	c.880+20A>G	NM_000123.4	NP_000114.3:p.?	NC_000013.10:g.103514084A>G	(Likely) benign	1 lab	31d7fc52d4
12:110252574 TRPV4 C>T	12	110252574	110252574	C	T	TRPV4	c.28G>A	NM_021625.5	NP_067638.3:p.(Ala10Thr)	NC_000012.11:g.110252574C>T	(Likely) benign	1 lab	31d923ee93
2:179427954 TTN C>T	2	179427954	179427954	C	T	TTN	c.82905G>A	NM_001267550.2	NP_001254479.2:p.(Lys27635=)	NC_000002.11:g.179427954C>T	(Likely) benign	1 lab	31e1f9bf7f
1:180217400 LHX4 C>A	1	180217400	180217400	C	A	LHX4	c.77-20C>A	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180217400C>A	(Likely) benign	1 lab	35213f0129
2:74596541 DCTN1 G>A	2	74596541	74596541	G	A	DCTN1	c.1470C>T	NM_004082.5	NP_004073.2:p.(Asp490=)	NC_000002.11:g.74596541G>A	(Likely) benign	1 lab	31e272dc56
12:124360037 DNAH10 C>T	12	124360037	124360037	C	T	DNAH10	c.7844C>T	NM_207437.3	NP_997320.2:p.(Ser2615Leu)	NC_000012.11:g.124360037C>T	(Likely) benign	1 lab	31e2b58f77
9:135187261 SETX G>C	9	135187261	135187261	G	C	SETX	c.5275-18C>G	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135187261G>C	(Likely) benign	1 lab	31e43931b7
8:42798506 HOOK3 T>C	8	42798506	42798506	T	C	HOOK3	c.318T>C	NM_032410.4	NP_115786.1:p.(Ile106=)	NC_000008.10:g.42798506T>C	(Likely) benign	1 lab	31e57bc99d
1:156849157 NTRK1 A>C	1	156849157	156849157	A	C	NTRK1	c.2046+3A>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156849157A>C	(Likely) pathogenic	1 lab	31e78288ef
9:139096808 LHX3 G>A	9	139096808	139096808	G	A	LHX3	c.51C>T	NM_178138.6	NP_835258.1:p.(Ala17=)	NC_000009.11:g.139096808G>A	(Likely) benign	1 lab	31ef040135
18:29115251 DSG2 T>C	18	29115251	29115251	T	C	DSG2	c.1299T>C	NM_001943.5	NP_001934.2:p.(Asp433=)	NC_000018.9:g.29115251T>C	(Likely) benign	1 lab	31f0d4c02f
5:172660521 NKX2-5 A>T	5	172660521	172660521	A	T	NKX2-5	c.335-17T>A	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660521A>T	(Likely) benign	1 lab	31f2305b22
16:12008150 MISSING G>Alt too long to show for this DUP	16	12008150	12225522	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.12008151_12225522dup	(Likely) pathogenic	1 lab	31f2f27a8b
2:44444110 MISSING Ref too long to show for this DEL>C	2	44444110	44565622	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.44444111_44565622del	(Likely) pathogenic	1 lab	3203f4d9cb
12:88473019 CEP290 CA>C	12	88473019	88473029	CA	C	CEP290	c.5227-14del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88473029del	(Likely) benign	1 lab	3205d034a6
22:50906108 SBF1 G>A	22	50906108	50906108	G	A	SBF1	c.291C>T	NM_002972.4	NP_002963.2:p.(Arg97=)	NC_000022.10:g.50906108G>A	(Likely) benign	1 lab	320743b178
2:44078770 ABCG8 G>A	2	44078770	44078770	G	A	ABCG8	c.370G>A	NM_022437.3	NP_071882.1:p.(Gly124Ser)	NC_000002.11:g.44078770G>A	(Likely) pathogenic	1 lab	3207e9b45a
2:21234050 APOB C>T	2	21234050	21234050	C	T	APOB	c.5690G>A	NM_000384.3	NP_000375.3:p.(Arg1897His)	NC_000002.11:g.21234050C>T	(Likely) benign	1 lab	321077ca01
12:56845204 MISSING Ref too long to show for this DEL>G	12	56845204	58592160	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.56845206_58592160del	(Likely) pathogenic	1 lab	321227bebf
19:11216243 LDLR G>A	19	11216243	11216243	G	A	LDLR	c.661G>A	NM_000527.5	NP_000518.1:p.(Asp221Asn)	NC_000019.9:g.11216243G>A	(Likely) pathogenic	1 lab	3213dda9fc
1:94486973 ABCA4 G>A	1	94486973	94486973	G	A	ABCA4	c.4849-8C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94486973G>A	(Likely) benign	1 lab	321596f987
17:79507989 FAAP100 C>T	17	79507989	79507989	C	T	FAAP100	c.2515-13G>A	NM_025161.6	NP_079437.5:p.?	NC_000017.10:g.79507989C>T	(Likely) benign	1 lab	321ac4a3a1
11:47356564 MYBPC3 G>A	11	47356564	47356564	G	A	MYBPC3	c.2905+29C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356564G>A	(Likely) benign	1 lab	3226ad3d74
13:52518365 ATP7B C>G	13	52518365	52518365	C	G	ATP7B	c.3123G>C	NM_000053.4	NP_000044.2:p.(Arg1041=)	NC_000013.10:g.52518365C>G	(Likely) benign	1 lab	322835e316
9:130242241 LRSAM1 C>T	9	130242241	130242241	C	T	LRSAM1	c.1027C>T	NM_138361.5	NP_612370.3:p.(Leu343=)	NC_000009.11:g.130242241C>T	(Likely) benign	1 lab	322af1ba55
17:41244244 BRCA1 T>C	17	41244244	41244244	T	C	BRCA1	c.3304A>G	NM_007294.4	NP_009225.1:p.(Asn1102Asp)	NC_000017.10:g.41244244T>C	(Likely) benign	1 lab	322c3d0be8
19:11228159 LDLR A>G	19	11228159	11228159	A	G	LDLR	c.1845+485A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228159A>G	(Likely) benign	1 lab	322d5d275b
7:75933176 HSPB1 A>ATT	7	75933176	75933177	A	ATT	HSPB1	c.422_423insTT	NM_001540.5	NP_001531.1:p.(Lys141AsnfsTer24)	NC_000007.13:g.75933176_75933177insTT	VUS	1 lab	322f65738d
11:117280522 CEP164 A>C	11	117280522	117280522	A	C	CEP164	c.3937A>C	NM_014956.5	NP_055771.4:p.(Thr1313Pro)	NC_000011.9:g.117280522A>C	(Likely) benign	1 lab	3230b191d2
1:150316675 PRPF3 A>G	1	150316675	150316675	A	G	PRPF3	c.1059A>G	NM_001350529.1	NP_001337458.1:p.(Glu353=)	NC_000001.10:g.150316675A>G	(Likely) benign	1 lab	32314bcb5d
12:112940038 PTPN11 A>T	12	112940038	112940038	A	T	PTPN11	c.1690A>T	NM_002834.5	NP_002825.3:p.(Thr564Ser)	NC_000012.11:g.112940038A>T	VUS	1 lab	32350803c5
9:139405742 NOTCH1 C>T	9	139405742	139405742	C	T	NOTCH1	c.2468-19G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139405742C>T	(Likely) benign	1 lab	323818089b
20:57480499 GNAS G>A	20	57480499	57480499	G	A	GNAS	c.2423G>A	NM_080425.4	NP_536350.2:p.(Arg808His)	NC_000020.10:g.57480499G>A	(Likely) pathogenic	1 lab	323c182d39
3:4327821 MISSING T>Alt too long to show for this DUP	3	4327821	4842488	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.4327822_4842488dup	VUS	1 lab	323eb735c0
17:10538747 MYH3 G>A	17	10538747	10538747	G	A	MYH3	c.4109C>T	NM_002470.4	NP_002461.2:p.(Ala1370Val)	NC_000017.10:g.10538747G>A	VUS	1 lab	32417da770
12:125263024 SCARB1 G>A	12	125263024	125263024	G	A	SCARB1	c.1510C>T	NM_001082959.2	NP_001076428.1:p.(Pro504Ser)	NC_000012.11:g.125263024G>A	VUS	1 lab	324b4f869b
18:21119949 NPC1 T>A	18	21119949	21119949	T	A	NPC1	c.2621A>T	NM_000271.5	NP_000262.2:p.(Asp874Val)	NC_000018.9:g.21119949T>A	(Likely) pathogenic	1 lab	325172ef59
9:74300311 CEMIP2 T>TAA	9	74300311	74300329	T	TAA	CEMIP2	c.3956-4_3956-3dup	NM_013390.3	NP_037522.1:p.?	NC_000009.11:g.74300328_74300329dup	(Likely) benign	1 lab	3255ec9594
1:216373414 USH2A G>A	1	216373414	216373414	G	A	USH2A	c.3366C>T	NM_206933.4	NP_996816.3:p.(Ser1122=)	NC_000001.10:g.216373414G>A	(Likely) benign	1 lab	3257290e6f
9:107555441 ABCA1 A>G	9	107555441	107555441	A	G	ABCA1	c.5636+11T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555441A>G	(Likely) benign	1 lab	3259d8ab54
2:179640298 TTN C>T	2	179640298	179640298	C	T	TTN	c.6293G>A	NM_001267550.2	NP_001254479.2:p.(Arg2098Gln)	NC_000002.11:g.179640298C>T	VUS	1 lab	325ca77071
X:39922101 BCOR T>C	X	39922101	39922101	T	C	BCOR	c.3969A>G	NM_017745.6	NP_060215.4:p.(Pro1323=)	NC_000023.10:g.39922101T>C	(Likely) benign	1 lab	326856acea
6:64694275 EYS C>A	6	64694275	64694275	C	A	EYS	c.7055+1G>T	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64694275C>A	(Likely) pathogenic	1 lab	326b18fc8e
4:55956225 KDR C>T	4	55956225	55956225	C	T	KDR	c.3090G>A	NM_002253.3	NP_002244.1:p.(Ala1030=)	NC_000004.11:g.55956225C>T	(Likely) benign	1 lab	327757ebea
5:70613834 MISSING Ref too long to show for this DEL>T	5	70613834	72426950	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.70613835_72426950del	VUS	1 lab	32835abb14
2:219646980 CYP27A1 C>G	2	219646980	219646980	C	G	CYP27A1	c.75C>G	NM_000784.4	NP_000775.1:p.(Ala25=)	NC_000002.11:g.219646980C>G	(Likely) benign	1 lab	32879b7786
8:59404101 CYP7A1 C>T	8	59404101	59404101	C	T	CYP7A1	c.1448G>A	NM_000780.4	NP_000771.2:p.(Arg483Gln)	NC_000008.10:g.59404101C>T	VUS	1 lab	32901f0f25
2:166918717 SCN1A Ref too long to show for this DEL>G	2	166918717	166924971	Ref too long to show for this DEL	G	SCN1A	c.264+4898_265-3520del	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166918719_166924971del	VUS	1 lab	3290f1517a
15:31073760 MISSING Ref too long to show for this DEL>T	15	31073760	32915593	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.31073761_32915593del	(Likely) pathogenic	1 lab	329171f761
10:55721523 PCDH15 T>C	10	55721523	55721523	T	C	PCDH15	c.3013A>G	NM_001142771.2	NP_001136243.1:p.(Thr1005Ala)	NC_000010.10:g.55721523T>C	VUS	1 lab	32927b5b0a
12:21375290 SLCO1B1 G>A	12	21375290	21375290	G	A	SLCO1B1	c.1739G>A	NM_006446.5	NP_006437.3:p.(Arg580Gln)	NC_000012.11:g.21375290G>A	(Likely) benign	1 lab	329482af77
2:1491746 TPO G>A	2	1491746	1491746	G	A	TPO	c.1751G>A	NM_000547.6	NP_000538.3:p.(Arg584Gln)	NC_000002.11:g.1491746G>A	VUS	1 lab	3294aededa
17:7907178 GUCY2D A>C	17	7907178	7907178	A	C	GUCY2D	c.730A>C	NM_000180.4	NP_000171.1:p.(Met244Leu)	NC_000017.10:g.7907178A>C	VUS	1 lab	329a794ab8
11:104072230 MISSING Ref too long to show for this DEL>A	11	104072230	105046625	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.104072231_105046625del	VUS	1 lab	329b4df895
16:77393330 ADAMTS18 G>C	16	77393330	77393330	G	C	ADAMTS18	c.1217-10C>G	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77393330G>C	(Likely) benign	1 lab	329e5ee611
11:76870547 MYO7A C>T	11	76870547	76870547	C	T	MYO7A	c.1058C>T	NM_000260.4	NP_000251.3:p.(Ala353Val)	NC_000011.9:g.76870547C>T	(Likely) benign	1 lab	32a30454a0
17:75316388 SEPTIN9 C>CTGCTA	17	75316388	75316393	C	CTGCTA	SEPTIN9	c.-20_-16dup	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75316389_75316393dup	(Likely) benign	1 lab	32a4d33500
19:13136154 NFIX G>A	19	13136154	13136154	G	A	NFIX	c.371G>A	NM_001271043.2	NP_001257972.1:p.(Arg124Gln)	NC_000019.9:g.13136154G>A	(Likely) pathogenic	1 lab	32a66da29a
12:22066011 ABCC9 A>G	12	22066011	22066011	A	G	ABCC9	c.817-11T>C	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22066011A>G	(Likely) benign	1 lab	32a68c0e48
17:15754173 MISSING Ref too long to show for this DEL>T	17	15754173	20564268	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.15754174_20564268del	(Likely) pathogenic	1 lab	32a6e6a1bb
1:147404211 MISSING Ref too long to show for this DEL>C	1	147404211	147907921	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.147404212_147907921del	VUS	1 lab	32ae0f30a9
5:7873516 MTRR G>A	5	7873516	7873516	G	A	MTRR	c.160G>A	NM_002454.3	NP_002445.2:p.(Val54Ile)	NC_000005.9:g.7873516G>A	VUS	1 lab	32b2d4dd30
2:21234789 APOB C>T	2	21234789	21234789	C	T	APOB	c.4951G>A	NM_000384.3	NP_000375.3:p.(Gly1651Arg)	NC_000002.11:g.21234789C>T	VUS	1 lab	32b3bfd663
3:38649757 SCN5A G>A	3	38649757	38649757	G	A	SCN5A	c.935-52C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38649757G>A	(Likely) benign	1 lab	32b4793bef
3:38639287 SCN5A A>T	3	38639287	38639287	A	T	SCN5A	c.2195T>A	NM_198056.3	NP_932173.1:p.(Leu732His)	NC_000003.11:g.38639287A>T	VUS	1 lab	32b6e7830f
9:107564676 ABCA1 T>C	9	107564676	107564676	T	C	ABCA1	c.4593-236A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564676T>C	(Likely) benign	1 lab	32bf9edfa4
7:33192299 BBS9 T>A	7	33192299	33192299	T	A	BBS9	c.113-14T>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33192299T>A	(Likely) benign	1 lab	356edfcd80
2:21258541 APOB A>C	2	21258541	21258541	A	C	APOB	c.733T>G	NM_000384.3	NP_000375.3:p.(Cys245Gly)	NC_000002.11:g.21258541A>C	(Likely) pathogenic	1 lab	32c3652e57
19:50771431 MYH14 G>A	19	50771431	50771431	G	A	MYH14	c.2840G>A	NM_001145809.2	NP_001139281.1:p.(Arg947His)	NC_000019.9:g.50771431G>A	VUS	1 lab	32c41f634c
X:7226731 STS G>Alt too long to show for this DUP	X	7226731	7249352	G	Alt too long to show for this DUP	STS	c.1081+3509_1242-2675dup	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7226733_7249352dup	VUS	1 lab	32c557d2f5
12:50026794 PRPF40B CAGAGG>C	12	50026794	50026799	CAGAGG	C	PRPF40B	c.265-2_267del	NM_012272.3	NP_036404.1:p.?	NC_000012.11:g.50026795_50026799del	(Likely) benign	1 lab	32c9894a4b
11:18309204 HPS5 T>C	11	18309204	18309204	T	C	HPS5	c.2595A>G	NM_181507.2	NP_852608.1:p.(Arg865=)	NC_000011.9:g.18309204T>C	(Likely) benign	1 lab	32cf7a3c24
9:107548462 ABCA1 T>C	9	107548462	107548462	T	C	ABCA1	c.6401+117A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548462T>C	(Likely) benign	1 lab	32d11ddfa9
8:10467596 RP1L1 A>T	8	10467596	10467596	A	T	RP1L1	c.4012T>A	NM_178857.6	NP_849188.4:p.(Leu1338Ile)	NC_000008.10:g.10467596A>T	(Likely) benign	1 lab	32d5aeb995
9:107593982 ABCA1 T>C	9	107593982	107593982	T	C	ABCA1	c.1636A>G	NM_005502.4	NP_005493.2:p.(Ile546Val)	NC_000009.11:g.107593982T>C	(Likely) benign	1 lab	32dcbbd124
11:47357324 MYBPC3 C>T	11	47357324	47357324	C	T	MYBPC3	c.2737+104G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357324C>T	(Likely) benign	1 lab	32e6c19833
10:88485895 LDB3 C>T	10	88485895	88485895	C	T	LDB3	c.1995C>T	NM_001171610.2	NP_001165081.1:p.(Asp665=)	NC_000010.10:g.88485895C>T	(Likely) benign	1 lab	32e873ba03
2:189859022 COL3A1 C>T	2	189859022	189859022	C	T	COL3A1	c.1257C>T	NM_000090.4	NP_000081.2:p.(Ala419=)	NC_000002.11:g.189859022C>T	(Likely) benign	1 lab	32e92cbd46
X:70444191 GJB1 C>T	X	70444191	70444191	C	T	GJB1	c.634C>T	NM_000166.6	NP_000157.1:p.(Leu212Phe)	NC_000023.10:g.70444191C>T	(Likely) pathogenic	1 lab	32ea86c385
6:125610824 MISSING Ref too long to show for this DEL>C	6	125610824	125643464	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.125610825_125643464del	VUS	1 lab	32ebbee336
18:19348658 MIB1 G>T	18	19348658	19348658	G	T	MIB1	c.476G>T	NM_020774.4	NP_065825.1:p.(Arg159Leu)	NC_000018.9:g.19348658G>T	VUS	1 lab	32ebf3ee94
14:103410715 CDC42BPB C>T	14	103410715	103410715	C	T	CDC42BPB	c.3921G>A	NM_006035.4	NP_006026.3:p.(Pro1307=)	NC_000014.8:g.103410715C>T	(Likely) benign	1 lab	32ec625dbe
19:13183918 NFIX CCA>C	19	13183918	13183920	CCA	C	NFIX	c.618_619del	NM_001365902.3	NP_001352831.1:p.(Asn207ArgfsTer76)	NC_000019.9:g.13183919_13183920del	(Likely) pathogenic	1 lab	32fd565348
2:179604178 TTN C>T	2	179604178	179604178	C	T	TTN	c.13782G>A	NM_001267550.2	NP_001254479.2:p.(Gln4594=)	NC_000002.11:g.179604178C>T	(Likely) benign	1 lab	33081a7012
X:70444030 GJB1 C>G	X	70444030	70444030	C	G	GJB1	c.473C>G	NM_000166.6	NP_000157.1:p.(Pro158Arg)	NC_000023.10:g.70444030C>G	(Likely) pathogenic	1 lab	33093b9761
12:106763866 POLR3B Ref too long to show for this DEL>A	12	106763866	106781181	Ref too long to show for this DEL	A	POLR3B	c.404+407_724-5628del	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106763868_106781181del	VUS	1 lab	3309586fae
16:57003980 CETP T>C	16	57003980	57003980	T	C	CETP	c.527+67T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003980T>C	(Likely) benign	1 lab	330a6497c6
10:69957120 MYPN G>C	10	69957120	69957120	G	C	MYPN	c.3170G>C	NM_032578.4	NP_115967.2:p.(Arg1057Pro)	NC_000010.10:g.69957120G>C	VUS	1 lab	330b2e1258
2:179463867 TTN A>T	2	179463867	179463867	A	T	TTN	c.56647+6T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463867A>T	VUS	1 lab	33381857e1
11:65306544 LTBP3 G>GGCGGCGTCA	11	65306544	65306559	G	GGCGGCGTCA	LTBP3	c.3904_3912dup	NM_001130144.3	NP_001123616.1:p.(Arg1302_Arg1304=)	NC_000011.9:g.65306551_65306559dup	(Likely) benign	1 lab	330bac82c2
16:67974309 LCAT G>A	16	67974309	67974309	G	A	LCAT	c.821C>T	NM_000229.2	NP_000220.1:p.(Pro274Leu)	NC_000016.9:g.67974309G>A	(Likely) pathogenic	1 lab	3312771574
2:179528435 TTN G>A	2	179528435	179528435	G	A	TTN	c.36451C>T	NM_001267550.2	NP_001254479.2:p.(Pro12151Ser)	NC_000002.11:g.179528435G>A	VUS	1 lab	3312b43c82
11:2604786 KCNQ1 C>T	11	2604786	2604786	C	T	KCNQ1	c.1032+11C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2604786C>T	(Likely) benign	1 lab	331618fbef
15:58860963 LIPC C>G	15	58860963	58860963	C	G	LIPC	c.1437C>G	NM_000236.3	NP_000227.2:p.(Thr479=)	NC_000015.9:g.58860963C>G	(Likely) benign	1 lab	33166e36f8
18:47095487 LIPG T>C	18	47095487	47095487	T	C	LIPG	c.460-320T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095487T>C	(Likely) benign	1 lab	331bb4f4d6
10:121429256 BAG3 A>C	10	121429256	121429256	A	C	BAG3	c.181-107A>C	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121429256A>C	(Likely) benign	1 lab	331c7c791c
16:943053 LMF1 C>A	16	943053	943053	C	A	LMF1	c.284G>T	NM_001352018.2	NP_001338947.1:p.(Gly95Val)	NC_000016.9:g.943053C>A	VUS	1 lab	331d22c850
12:21331940 SLCO1B1 G>A	12	21331940	21331940	G	A	SLCO1B1	c.713G>A	NM_006446.5	NP_006437.3:p.(Gly238Glu)	NC_000012.11:g.21331940G>A	(Likely) benign	1 lab	33218329e4
17:75303261 SEPTIN9 G>T	17	75303261	75303261	G	T	SEPTIN9	c.58G>T	NM_001113491.2	NP_001106963.1:p.(Gly20Cys)	NC_000017.10:g.75303261G>T	VUS	1 lab	332b0e9322
8:145623210 CPSF1 G>A	8	145623210	145623210	G	A	CPSF1	c.2032C>T	NM_013291.3	NP_037423.2:p.(Arg678Cys)	NC_000008.10:g.145623210G>A	VUS	1 lab	332dd7b95c
4:15992846 PROM1 A>G	4	15992846	15992846	A	G	PROM1	c.1955T>C	NM_001145847.2	NP_001139319.1:p.(Leu652Ser)	NC_000004.11:g.15992846A>G	VUS	1 lab	332fd8208a
3:100961755 IMPG2 C>A	3	100961755	100961755	C	A	IMPG2	c.2803-4G>T	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100961755C>A	(Likely) benign	1 lab	3332f16b4f
3:148901395 CP TA>T	3	148901395	148901406	TA	T	CP	c.2286-4del	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148901406del	(Likely) benign	1 lab	333657bfdc
12:20890071 SLCO1C1 T>C	12	20890071	20890071	T	C	SLCO1C1	c.1413T>C	NM_001145946.2	NP_001139418.1:p.(Ala471=)	NC_000012.11:g.20890071T>C	(Likely) benign	1 lab	33407f0bae
2:44073455 ABCG8 C>T	2	44073455	44073455	C	T	ABCG8	c.322+5C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44073455C>T	(Likely) benign	1 lab	33480910f0
11:1481925 BRSK2 C>T	11	1481925	1481925	C	T	BRSK2	c.2183C>T	NM_001256627.2	NP_001243556.1:p.(Pro728Leu)	NC_000011.9:g.1481925C>T	(Likely) benign	1 lab	334ab48ef0
1:236897915 ACTN2 G>A	1	236897915	236897915	G	A	ACTN2	c.698-1020G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897915G>A	(Likely) benign	1 lab	334b72fb45
11:75279883 SERPINH1 T>C	11	75279883	75279883	T	C	SERPINH1	c.721+9T>C	NM_001235.5	NP_001226.2:p.?	NC_000011.9:g.75279883T>C	(Likely) benign	1 lab	336c2856ca
12:125302244 SCARB1 T>C	12	125302244	125302244	T	C	SCARB1	c.136A>G	NM_001367981.1	NP_001354910.1:p.(Ile46Val)	NC_000012.11:g.125302244T>C	VUS	1 lab	336fa61801
16:70302257 AARS1 G>A	16	70302257	70302257	G	A	AARS1	c.988C>T	NM_001605.3	NP_001596.2:p.(Arg330Ter)	NC_000016.9:g.70302257G>A	VUS	1 lab	337164b132
2:206562250 NRP2 C>T	2	206562250	206562250	C	T	NRP2	c.74-18C>T	NM_201266.2	NP_957718.1:p.?	NC_000002.11:g.206562250C>T	(Likely) benign	1 lab	3373b5ab4d
12:11214368 TAS2R46 T>C	12	11214368	11214368	T	C	TAS2R46	c.526A>G	NM_176887.2	NP_795368.2:p.(Asn176Asp)	NC_000012.11:g.11214368T>C	(Likely) benign	1 lab	337896a1b1
X:65337829 MISSING T>Alt too long to show for this DUP	X	65337829	65393857	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.65337830_65393857dup	VUS	1 lab	3378a5d137
5:88100557 MEF2C C>T	5	88100557	88100557	C	T	MEF2C	c.116G>A	NM_001364330.2	NP_001351259.1:p.(Cys39Tyr)	NC_000005.9:g.88100557C>T	(Likely) pathogenic	1 lab	3378a72e9d
2:179528636 TTN A>G	2	179528636	179528636	A	G	TTN	c.36365-7T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528636A>G	(Likely) benign	1 lab	337acab5fe
5:179260232 SQSTM1 G>A	5	179260232	179260232	G	A	SQSTM1	c.955G>A	NM_003900.5	NP_003891.1:p.(Glu319Lys)	NC_000005.9:g.179260232G>A	(Likely) benign	1 lab	337bdf722b
3:128625740 MISSING A>Alt too long to show for this DUP	3	128625740	128651914	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.128625741_128651914dup	VUS	1 lab	337bff4af9
5:148407822 SH3TC2 G>A	5	148407822	148407822	G	A	SH3TC2	c.1473C>T	NM_024577.4	NP_078853.2:p.(Phe491=)	NC_000005.9:g.148407822G>A	(Likely) benign	1 lab	338378a52d
20:2771629 MISSING T>Alt too long to show for this DUP	20	2771629	3039115	T	Alt too long to show for this DUP	MISSING				NC_000020.10:g.2771630_3039115dup	VUS	1 lab	3387196ad1
17:59858369 BRIP1 A>G	17	59858369	59858369	A	G	BRIP1	c.1629-3T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59858369A>G	VUS	1 lab	3387cba8b1
9:139410420 NOTCH1 C>T	9	139410420	139410420	C	T	NOTCH1	c.1669+13G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139410420C>T	(Likely) benign	1 lab	338d6591de
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	33934fd829
1:55517883 PCSK9 C>G	1	55517883	55517883	C	G	PCSK9	c.524-68C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55517883C>G	(Likely) benign	1 lab	3396cfeb4a
2:36706788 CRIM1 C>G	2	36706788	36706788	C	G	CRIM1	c.1323C>G	NM_016441.3	NP_057525.1:p.(Thr441=)	NC_000002.11:g.36706788C>G	(Likely) benign	1 lab	339954a379
17:21319007 KCNJ12 G>A	17	21319007	21319007	G	A	KCNJ12	c.353G>A	NM_021012.5	NP_066292.2:p.(Arg118Gln)	NC_000017.10:g.21319007G>A	(Likely) benign	1 lab	339c484475
9:130587220 ENG C>T	9	130587220	130587220	C	T	ENG	c.850G>A	NM_000118.3	NP_000109.1:p.(Glu284Lys)	NC_000009.11:g.130587220C>T	(Likely) benign	1 lab	341f3ac553
X:135956571 RBMX T>TGG	X	135956571	135956573	T	TGG	RBMX	c.904_905dup	NM_002139.4	NP_002130.2:p.(Ser303HisfsTer137)	NC_000023.10:g.135956572_135956573dup	(Likely) benign	1 lab	33a4241b34
19:11218247 LDLR G>A	19	11218247	11218247	G	A	LDLR	c.940+57G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218247G>A	(Likely) benign	1 lab	33a8274107
22:46829377 CELSR1 G>A	22	46829377	46829377	G	A	CELSR1	c.4524C>T	NM_001378328.1	NP_001365257.1:p.(Gly1508=)	NC_000022.10:g.46829377G>A	(Likely) benign	1 lab	33a976ae51
1:47685587 TAL1 A>C	1	47685587	47685587	A	C	TAL1	c.801T>G	NM_003189.5	NP_003180.1:p.(Gly267=)	NC_000001.10:g.47685587A>C	(Likely) benign	1 lab	33b6bc95e5
12:21602545 PYROXD1 C>T	12	21602545	21602545	C	T	PYROXD1	c.334C>T	NM_024854.5	NP_079130.2:p.(Leu112=)	NC_000012.11:g.21602545C>T	(Likely) benign	1 lab	33b6cdec73
X:69255327 EDA C>T	X	69255327	69255327	C	T	EDA	c.1044C>T	NM_001399.5	NP_001390.1:p.(Thr348=)	NC_000023.10:g.69255327C>T	(Likely) benign	1 lab	33bb570105
X:64741165 LAS1L G>A	X	64741165	64741165	G	A	LAS1L	c.1454C>T	NM_001375330.1	NP_001362259.1:p.(Ala485Val)	NC_000023.10:g.64741165G>A	(Likely) benign	1 lab	33bc47a2bf
11:47353924 MYBPC3 C>G	11	47353924	47353924	C	G	MYBPC3	c.3628-115G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353924C>G	(Likely) benign	1 lab	33c0b4a616
5:138147993 CTNNA1 TAC>T	5	138147993	138147996	TAC	T	CTNNA1	c.588+4_588+5del	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138147995_138147996del	(Likely) benign	1 lab	33c165f281
4:998047 IDUA G>A	4	998047	998047	G	A	IDUA	c.1829-1G>A	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.998047G>A	(Likely) pathogenic	1 lab	33c39ac1d7
1:12059066 MFN2 G>A	1	12059066	12059066	G	A	MFN2	c.730G>A	NM_014874.4	NP_055689.1:p.(Val244Met)	NC_000001.10:g.12059066G>A	(Likely) pathogenic	1 lab	33c475ae77
4:9246838 USP17L17 C>T	4	9246838	9246838	C	T	USP17L17	c.1234C>T	NM_001256857.1	NP_001243786.1:p.(His412Tyr)	NC_000004.11:g.9246838C>T	(Likely) benign	1 lab	33c7e52748
3:37067093 MLH1 ATATATATTTTT>A	3	37067093	37067105	ATATATATTTTT	A	MLH1	c.1039-33_1039-23del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067095_37067105del	(Likely) benign	1 lab	33c9188231
19:12541541 ZNF443 C>CTG	19	12541541	12541542	C	CTG	ZNF443	c.1444_1445insCA	NM_005815.5	NP_005806.3:p.(Gly482AlafsTer67)	NC_000019.9:g.12541541_12541542insTG	(Likely) benign	1 lab	33cba5e091
15:58834109 LIPC C>T	15	58834109	58834109	C	T	LIPC	c.399C>T	NM_000236.3	NP_000227.2:p.(Ala133=)	NC_000015.9:g.58834109C>T	(Likely) benign	1 lab	33cc6e28b0
7:143039044 CLCN1 C>T	7	143039044	143039044	C	T	CLCN1	c.1605C>T	NM_000083.3	NP_000074.3:p.(Ala535=)	NC_000007.13:g.143039044C>T	(Likely) benign	1 lab	33cc7cbfcd
16:88494234 ZNF469 G>A	16	88494234	88494234	G	A	ZNF469	c.356G>A	NM_001367624.2	NP_001354553.1:p.(Arg119His)	NC_000016.9:g.88494234G>A	(Likely) benign	1 lab	33cd85c6e7
12:22035787 ABCC9 C>T	12	22035787	22035787	C	T	ABCC9	c.1932G>A	NM_020297.4	NP_064693.2:p.(Arg644=)	NC_000012.11:g.22035787C>T	(Likely) benign	1 lab	33cdc4aeb1
6:32549620 HLA-DRB1 G>A	6	32549620	32549620	G	A	HLA-DRB1	c.371-5C>T	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32549620G>A	(Likely) benign	1 lab	33ce9f028f
13:102047698 NALCN G>A	13	102047698	102047698	G	A	NALCN	c.127C>T	NM_001350748.2	NP_001337677.1:p.(Arg43Cys)	NC_000013.10:g.102047698G>A	VUS	1 lab	33d007c3a3
5:110079450 SLC25A46 T>C	5	110079450	110079450	T	C	SLC25A46	c.346T>C	NM_138773.4	NP_620128.1:p.(Leu116=)	NC_000005.9:g.110079450T>C	(Likely) benign	1 lab	33d05571c7
3:38646350 SCN5A A>C	3	38646350	38646350	A	C	SCN5A	c.1388T>G	NM_198056.3	NP_932173.1:p.(Met463Arg)	NC_000003.11:g.38646350A>C	VUS	1 lab	33d1f8236a
10:48389274 RBP3 C>T	10	48389274	48389274	C	T	RBP3	c.1604G>A	NM_002900.3	NP_002891.1:p.(Arg535His)	NC_000010.10:g.48389274C>T	VUS	1 lab	33d2166d4a
10:91007603 LIPA T>TTTTATTTATTTA	10	91007603	91007640	T	TTTTATTTATTTA	LIPA	c.-1-209_-1-198dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007629_91007640dup	(Likely) benign	1 lab	33d4a06f7a
16:57950024 CNGB1 G>A	16	57950024	57950024	G	A	CNGB1	c.2217+9C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57950024G>A	(Likely) benign	1 lab	33d5466371
1:55509596 PCSK9 C>A	1	55509596	55509596	C	A	PCSK9	c.288C>A	NM_174936.4	NP_777596.2:p.(Arg96=)	NC_000001.10:g.55509596C>A	(Likely) benign	1 lab	33e3fbc81d
X:48433401 MISSING T>Alt too long to show for this DUP	X	48433401	48450227	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.48433402_48450227dup	VUS	1 lab	33e5243fbd
22:38370155 SOX10 G>A	22	38370155	38370155	G	A	SOX10	c.748C>T	NM_006941.4	NP_008872.1:p.(Gln250Ter)	NC_000022.10:g.38370155G>A	(Likely) pathogenic	1 lab	33e5ce14bb
6:375889 MISSING Ref too long to show for this DEL>A	6	375889	2155812	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.375890_2155812del	(Likely) pathogenic	1 lab	33e7094076
7:55260440 EGFR C>T	7	55260440	55260440	C	T	EGFR	c.2626-19C>T	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55260440C>T	(Likely) benign	1 lab	33e7d4b586
8:144997902 PLEC T>C	8	144997902	144997902	T	C	PLEC	c.6606A>G	NM_201380.4	NP_958782.1:p.(Leu2202=)	NC_000008.10:g.144997902T>C	(Likely) benign	1 lab	33ec186168
2:179480363 TTN C>T	2	179480363	179480363	C	T	TTN	c.48460+5G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480363C>T	VUS	1 lab	33ec267692
5:151054165 SPARC C>A	5	151054165	151054165	C	A	SPARC	c.120+8G>T	NM_003118.4	NP_003109.1:p.?	NC_000005.9:g.151054165C>A	(Likely) benign	1 lab	33eedf07cd
8:61707603 CHD7 A>G	8	61707603	61707603	A	G	CHD7	c.2155A>G	NM_017780.4	NP_060250.2:p.(Thr719Ala)	NC_000008.10:g.61707603A>G	(Likely) benign	1 lab	33efcc6d84
6:75804495 COL12A1 G>A	6	75804495	75804495	G	A	COL12A1	c.8649+329C>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75804495G>A	(Likely) benign	1 lab	33f018a2e1
15:58853160 LIPC G>A	15	58853160	58853160	G	A	LIPC	c.1149G>A	NM_000236.3	NP_000227.2:p.(Met383Ile)	NC_000015.9:g.58853160G>A	(Likely) benign	1 lab	33f12f243d
7:128038462 IMPDH1 C>A	7	128038462	128038462	C	A	IMPDH1	c.1074+6G>T	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128038462C>A	(Likely) benign	1 lab	33fb1e9045
1:20972158 PINK1 A>G	1	20972158	20972158	A	G	PINK1	c.1065A>G	NM_032409.3	NP_115785.1:p.(Gln355=)	NC_000001.10:g.20972158A>G	(Likely) benign	1 lab	33fb6e452f
17:36489255 GPR179 C>T	17	36489255	36489255	C	T	GPR179	c.1916G>A	NM_001004334.4	NP_001004334.3:p.(Arg639Gln)	NC_000017.10:g.36489255C>T	VUS	1 lab	33fe4e54e6
22:28195109 MN1 C>G	22	28195109	28195109	C	G	MN1	c.1423G>C	NM_002430.3	NP_002421.3:p.(Gly475Arg)	NC_000022.10:g.28195109C>G	VUS	1 lab	34044b783d
8:92401602 SLC26A7 A>C	8	92401602	92401602	A	C	SLC26A7	c.1712A>C	NM_001282356.2	NP_001269285.1:p.(Tyr571Ser)	NC_000008.10:g.92401602A>C	(Likely) benign	1 lab	3405f0b468
19:11218067 LDLR G>A	19	11218067	11218067	G	A	LDLR	c.818-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218067G>A	(Likely) pathogenic	1 lab	3408ca149a
17:71166370 SSTR2 C>G	17	71166370	71166370	C	G	SSTR2	c.912C>G	NM_001050.3	NP_001041.1:p.(Asn304Lys)	NC_000017.10:g.71166370C>G	(Likely) benign	1 lab	340959d93e
1:9164512 MISSING Ref too long to show for this DEL>G	1	9164512	9218722	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.9164516_9218722del	VUS	1 lab	340aa77071
11:116661297 APOA5 G>C	11	116661297	116661297	G	C	APOA5	c.648C>G	NM_052968.5	NP_443200.2:p.(His216Gln)	NC_000011.9:g.116661297G>C	VUS	1 lab	340d278b16
21:47423582 COL6A1 C>T	21	47423582	47423582	C	T	COL6A1	c.2742C>T	NM_001848.3	NP_001839.2:p.(Thr914=)	NC_000021.8:g.47423582C>T	(Likely) benign	1 lab	340f9f1e79
12:125302152 SCARB1 G>A	12	125302152	125302152	G	A	SCARB1	c.228C>T	NM_001367981.1	NP_001354910.1:p.(Ser76=)	NC_000012.11:g.125302152G>A	(Likely) benign	1 lab	34122999af
2:179396354 TTN G>A	2	179396354	179396354	G	A	TTN	c.104988C>T	NM_001267550.2	NP_001254479.2:p.(Val34996=)	NC_000002.11:g.179396354G>A	(Likely) benign	1 lab	34133260f8
5:82833145 VCAN G>A	5	82833145	82833145	G	A	VCAN	c.4323G>A	NM_004385.5	NP_004376.2:p.(Gln1441=)	NC_000005.9:g.82833145G>A	(Likely) benign	1 lab	3416bce3a5
11:66114189 B4GAT1 C>A	11	66114189	66114189	C	A	B4GAT1	c.828G>T	NM_006876.3	NP_006867.1:p.(Val276=)	NC_000011.9:g.66114189C>A	(Likely) benign	1 lab	3416f5e414
2:179463475 TTN C>T	2	179463475	179463475	C	T	TTN	c.56962G>A	NM_001267550.2	NP_001254479.2:p.(Ala18988Thr)	NC_000002.11:g.179463475C>T	VUS	1 lab	3417c3a468
8:61654540 CHD7 T>C	8	61654540	61654540	T	C	CHD7	c.549T>C	NM_017780.4	NP_060250.2:p.(Pro183=)	NC_000008.10:g.61654540T>C	(Likely) benign	1 lab	3418700efd
17:15162479 PMP22 T>A	17	15162479	15162479	T	A	PMP22	c.110A>T	NM_000304.4	NP_000295.1:p.(Asp37Val)	NC_000017.10:g.15162479T>A	(Likely) pathogenic	1 lab	34189c7393
4:166403504 CPE G>A	4	166403504	166403504	G	A	CPE	c.783G>A	NM_001873.4	NP_001864.1:p.(Thr261=)	NC_000004.11:g.166403504G>A	(Likely) benign	1 lab	342576731a
5:178270807 MISSING T>Alt too long to show for this DUP	5	178270807	178828854	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.178270810_178828854dup	VUS	1 lab	342b149111
17:17139172 MISSING C>Alt too long to show for this DUP	17	17139172	17257936	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.17139173_17257936dup	VUS	1 lab	343afd6705
6:94120583 EPHA7 G>T	6	94120583	94120583	G	T	EPHA7	c.468C>A	NM_004440.4	NP_004431.1:p.(Thr156=)	NC_000006.11:g.94120583G>T	(Likely) benign	1 lab	343c1c0f1c
12:57939824 DCTN2 G>A	12	57939824	57939824	G	A	DCTN2	c.221C>T	NM_001348065.2	NP_001334994.1:p.(Ala74Val)	NC_000012.11:g.57939824G>A	VUS	1 lab	343d3818a6
18:77464874 CTDP1 C>T	18	77464874	77464874	C	T	CTDP1	c.729C>T	NM_004715.5	NP_004706.3:p.(His243=)	NC_000018.9:g.77464874C>T	(Likely) benign	1 lab	343d4efc48
7:72968002 BCL7B C>CA	7	72968002	72968013	C	CA	BCL7B	c.4-4dup	NM_001301061.2	NP_001287990.1:p.?	NC_000007.13:g.72968013dup	(Likely) benign	1 lab	3441687ede
16:88496890 ZNF469 C>T	16	88496890	88496890	C	T	ZNF469	c.3012C>T	NM_001367624.2	NP_001354553.1:p.(Ser1004=)	NC_000016.9:g.88496890C>T	(Likely) benign	1 lab	3442d8a70d
15:48797359 FBN1 G>A	15	48797359	48797359	G	A	FBN1	c.1838-15C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48797359G>A	(Likely) benign	1 lab	344406eb07
19:4117528 MAP2K2 G>A	19	4117528	4117528	G	A	MAP2K2	c.192C>T	NM_030662.4	NP_109587.1:p.(Val64=)	NC_000019.9:g.4117528G>A	(Likely) benign	1 lab	3444c6bbac
3:47161892 SETD2 C>T	3	47161892	47161892	C	T	SETD2	c.4234G>A	NM_014159.7	NP_054878.5:p.(Glu1412Lys)	NC_000003.11:g.47161892C>T	VUS	1 lab	34529f9101
2:179615428 TTN A>G	2	179615428	179615428	A	G	TTN	c.11699T>C	NM_133379.5	NP_596870.2:p.(Ile3900Thr)	NC_000002.11:g.179615428A>G	VUS	1 lab	34544bec3b
11:123513161 SCN3B G>A	11	123513161	123513161	G	A	SCN3B	c.438C>T	NM_018400.4	NP_060870.1:p.(Thr146=)	NC_000011.9:g.123513161G>A	(Likely) benign	1 lab	3458dbbf59
11:108121410 ATM CTTTT>C	11	108121410	108121425	CTTTT	C	ATM	c.1236-6_1236-3del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121422_108121425del	(Likely) benign	1 lab	345d740ec2
2:220353614 SPEG G>A	2	220353614	220353614	G	A	SPEG	c.8141G>A	NM_005876.5	NP_005867.3:p.(Arg2714Gln)	NC_000002.11:g.220353614G>A	VUS	1 lab	3461a83eff
22:42458827 NAGA G>C	22	42458827	42458827	G	C	NAGA	c.957+4C>G	NM_000262.3	NP_000253.1:p.?	NC_000022.10:g.42458827G>C	(Likely) benign	1 lab	3461b1e647
8:145738926 RECQL4 C>G	8	145738926	145738926	C	G	RECQL4	c.2200+29G>C	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145738926C>G	(Likely) benign	1 lab	346974f144
3:50368971 RASSF1 G>A	3	50368971	50368971	G	A	RASSF1	c.760+19C>T	NM_007182.5	NP_009113.3:p.?	NC_000003.11:g.50368971G>A	(Likely) benign	1 lab	3469c43b93
8:100155409 VPS13B A>G	8	100155409	100155409	A	G	VPS13B	c.1843+16A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100155409A>G	(Likely) benign	1 lab	346dc0d1c7
1:66031063 LEPR G>A	1	66031063	66031063	G	A	LEPR	c.-20-166G>A	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66031063G>A	(Likely) benign	1 lab	346ecb05fa
2:179413643 TTN T>C	2	179413643	179413643	T	C	TTN	c.92710A>G	NM_001267550.2	NP_001254479.2:p.(Lys30904Glu)	NC_000002.11:g.179413643T>C	VUS	1 lab	34704a1f8b
15:28260053 OCA2 G>A	15	28260053	28260053	G	A	OCA2	c.913C>T	NM_000275.3	NP_000266.2:p.(Arg305Trp)	NC_000015.9:g.28260053G>A	(Likely) benign	1 lab	3471b905c0
19:55539084 GP6 CG>C	19	55539084	55539087	CG	C	GP6	c.471del	NM_001083899.2	NP_001077368.2:p.(Glu158ArgfsTer13)	NC_000019.9:g.55539087del	(Likely) pathogenic	1 lab	34737c070a
15:85383764 ALPK3 G>A	15	85383764	85383764	G	A	ALPK3	c.1254G>A	NM_020778.5	NP_065829.4:p.(Met418Ile)	NC_000015.9:g.85383764G>A	VUS	1 lab	34766d9362
14:90485750 TDP1 C>T	14	90485750	90485750	C	T	TDP1	c.1632C>T	NM_018319.4	NP_060789.2:p.(Leu544=)	NC_000014.8:g.90485750C>T	(Likely) benign	1 lab	3478d8bb3c
7:100679783 MUC17 A>C	7	100679783	100679783	A	C	MUC17	c.5086A>C	NM_001040105.2	NP_001035194.1:p.(Thr1696Pro)	NC_000007.13:g.100679783A>C	(Likely) benign	1 lab	347a9f527b
20:34059927 CEP250 C>T	20	34059927	34059927	C	T	CEP250	c.1001C>T	NM_007186.6	NP_009117.2:p.(Ala334Val)	NC_000020.10:g.34059927C>T	(Likely) benign	1 lab	348609a47d
20:42788412 JPH2 C>T	20	42788412	42788412	C	T	JPH2	c.1015G>A	NM_020433.5	NP_065166.2:p.(Gly339Ser)	NC_000020.10:g.42788412C>T	VUS	1 lab	3488d6bd7e
9:20365614 MISSING Ref too long to show for this DEL>A	9	20365614	20663457	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.20365615_20663457del	VUS	1 lab	348968ecc0
11:47374193 MYBPC3 A>G	11	47374193	47374193	A	G	MYBPC3	c.6T>C	NM_000256.3	NP_000247.2:p.(Pro2=)	NC_000011.9:g.47374193A>G	(Likely) benign	1 lab	348d650e81
2:21229473 APOB C>T	2	21229473	21229473	C	T	APOB	c.10267G>A	NM_000384.3	NP_000375.3:p.(Val3423Met)	NC_000002.11:g.21229473C>T	VUS	1 lab	3491096173
6:32024650 TNXB G>A	6	32024650	32024650	G	A	TNXB	c.7856C>T	NM_019105.8	NP_061978.6:p.(Pro2619Leu)	NC_000006.11:g.32024650G>A	(Likely) benign	1 lab	3494846ca5
12:125302260 SCARB1 G>T	12	125302260	125302260	G	T	SCARB1	c.127-7C>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125302260G>T	(Likely) benign	1 lab	349ad2e6f4
19:1440417 RPS15 G>A	19	1440417	1440417	G	A	RPS15	c.415G>A	NM_001308226.2	NP_001295155.1:p.(Gly139Ser)	NC_000019.9:g.1440417G>A	VUS	1 lab	349f561c72
8:17918873 ASAH1 C>T	8	17918873	17918873	C	T	ASAH1	c.785+13G>A	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17918873C>T	(Likely) benign	1 lab	34a0a2b9ca
19:11227480 LDLR A>C	19	11227480	11227480	A	C	LDLR	c.1706-55A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227480A>C	(Likely) benign	1 lab	34a0ba731d
1:75005915 TNNI3K C>T	1	75005915	75005915	C	T	TNNI3K	c.2352-3C>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.75005915C>T	(Likely) benign	1 lab	34a22676c1
19:33154985 MISSING G>Alt too long to show for this DUP	19	33154985	33215470	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.33154986_33215470dup	VUS	1 lab	34a4d9fb8f
11:61726953 BEST1 C>A	11	61726953	61726953	C	A	BEST1	c.688-17C>A	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61726953C>A	(Likely) benign	1 lab	34a623e2b5
11:62457977 BSCL2 T>C	11	62457977	62457977	T	C	BSCL2	c.1251A>G	NM_001122955.4	NP_001116427.1:p.(Glu417=)	NC_000011.9:g.62457977T>C	(Likely) benign	1 lab	34a71e6764
1:237951384 RYR2 G>A	1	237951384	237951384	G	A	RYR2	c.13425G>A	NM_001035.3	NP_001026.2:p.(Val4475=)	NC_000001.10:g.237951384G>A	(Likely) benign	1 lab	34a728793c
5:133942683 SAR1B C>T	5	133942683	133942683	C	T	SAR1B	c.554G>A	NM_001033503.3	NP_001028675.1:p.(Gly185Asp)	NC_000005.9:g.133942683C>T	(Likely) pathogenic	1 lab	34aa62444f
8:176451 MISSING Ref too long to show for this DEL>G	8	176451	5528098	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.176452_5528098del	(Likely) pathogenic	1 lab	34b040da6e
7:40039063 CDK13 T>TA	7	40039063	40039064	T	TA	CDK13	c.2147dup	NM_003718.5	NP_003709.3:p.(Tyr716Ter)	NC_000007.13:g.40039064dup	VUS	1 lab	34b1791c5e
7:151478479 PRKAG2 C>T	7	151478479	151478479	C	T	PRKAG2	c.225G>A	NM_016203.4	NP_057287.2:p.(Gly75=)	NC_000007.13:g.151478479C>T	(Likely) benign	1 lab	34b22e4e1a
8:144295172 GPIHBP1 C>T	8	144295172	144295172	C	T	GPIHBP1	c.30C>T	NM_178172.6	NP_835466.2:p.(Ala10=)	NC_000008.10:g.144295172C>T	(Likely) benign	1 lab	34b5a77636
2:48026176 MSH6 G>A	2	48026176	48026176	G	A	MSH6	c.1054G>A	NM_000179.3	NP_000170.1:p.(Val352Ile)	NC_000002.11:g.48026176G>A	(Likely) benign	1 lab	34f75a71f5
12:116802483 MISSING G>Alt too long to show for this DUP	12	116802483	117186309	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.116802484_117186309dup	VUS	1 lab	34b83d1432
7:128477423 FLNC C>T	7	128477423	128477423	C	T	FLNC	c.700-29C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477423C>T	(Likely) benign	1 lab	34b9fdaacd
1:161276562 MPZ G>C	1	161276562	161276562	G	C	MPZ	c.384C>G	NM_000530.8	NP_000521.2:p.(Asp128Glu)	NC_000001.10:g.161276562G>C	(Likely) pathogenic	1 lab	34c1a36290
2:179439535 TTN A>G	2	179439535	179439535	A	G	TTN	c.71324T>C	NM_001267550.2	NP_001254479.2:p.(Val23775Ala)	NC_000002.11:g.179439535A>G	VUS	1 lab	34c6bf8c95
9:125487017 OR1L4 T>C	9	125487017	125487017	T	C	OR1L4	c.749T>C	NM_001005235.1	NP_001005235.1:p.(Val250Ala)	NC_000009.11:g.125487017T>C	(Likely) benign	1 lab	34c8f76581
12:978128 WNK1 C>CT	12	978128	978129	C	CT	WNK1	c.3237dup	NM_001184985.2	NP_001171914.1:p.(Asp1080Ter)	NC_000012.11:g.978129dup	(Likely) pathogenic	1 lab	34ca459320
16:83941821 MLYCD G>A	16	83941821	83941821	G	A	MLYCD	c.732G>A	NM_012213.3	NP_036345.2:p.(Ser244=)	NC_000016.9:g.83941821G>A	(Likely) benign	1 lab	34cf82fd89
9:103002466 INVS A>G	9	103002466	103002466	A	G	INVS	c.740A>G	NM_014425.5	NP_055240.2:p.(Asn247Ser)	NC_000009.11:g.103002466A>G	(Likely) benign	1 lab	34d14908f2
14:74970028 LTBP2 C>T	14	74970028	74970028	C	T	LTBP2	c.4782G>A	NM_000428.3	NP_000419.1:p.(Val1594=)	NC_000014.8:g.74970028C>T	(Likely) benign	1 lab	34d25114a7
18:28654872 DSC2 T>G	18	28654872	28654872	T	G	DSC2	c.1665A>C	NM_024422.6	NP_077740.1:p.(Gly555=)	NC_000018.9:g.28654872T>G	(Likely) benign	1 lab	34d3a5aaec
1:161276654 MPZ G>A	1	161276654	161276654	G	A	MPZ	c.292C>T	NM_000530.8	NP_000521.2:p.(Arg98Cys)	NC_000001.10:g.161276654G>A	(Likely) pathogenic	1 lab	34dff57f8a
20:32026831 SNTA1 G>A	20	32026831	32026831	G	A	SNTA1	c.312C>T	NM_003098.3	NP_003089.1:p.(Gly104=)	NC_000020.10:g.32026831G>A	(Likely) benign	1 lab	34e026537a
6:7565684 DSP G>GGA	6	7565684	7565687	G	GGA	DSP	c.872_873dup	NM_004415.4	NP_004406.2:p.(Glu292ArgfsTer26)	NC_000006.11:g.7565686_7565687dup	(Likely) pathogenic	1 lab	34e79aa9d5
4:56230414 SRD5A3 C>T	4	56230414	56230414	C	T	SRD5A3	c.538C>T	NM_024592.5	NP_078868.1:p.(Gln180Ter)	NC_000004.11:g.56230414C>T	(Likely) pathogenic	1 lab	34f945e00f
11:47356578 MYBPC3 CAAAG>C	11	47356578	47356582	CAAAG	C	MYBPC3	c.2905+11_2905+14del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356579_47356582del	(Likely) benign	1 lab	34fb60d398
6:56437081 DST T>C	6	56437081	56437081	T	C	DST	c.7198-17A>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56437081T>C	(Likely) benign	1 lab	3501981921
5:1213611 SLC6A19 G>A	5	1213611	1213611	G	A	SLC6A19	c.697G>A	NM_001003841.3	NP_001003841.1:p.(Val233Ile)	NC_000005.9:g.1213611G>A	VUS	1 lab	35069628fb
20:45354887 SLC2A10 G>T	20	45354887	45354887	G	T	SLC2A10	c.1212G>T	NM_030777.4	NP_110404.1:p.(Gly404=)	NC_000020.10:g.45354887G>T	(Likely) benign	1 lab	350efbe521
12:6472718 SCNN1A CT>C	12	6472718	6472719	CT	C	SCNN1A	c.574del	NM_001038.6	NP_001029.1:p.(Arg192GlyfsTer57)	NC_000012.11:g.6472719del	(Likely) pathogenic	1 lab	35123702d8
3:101039185 IMPG2 G>T	3	101039185	101039185	G	T	IMPG2	c.32C>A	NM_016247.4	NP_057331.2:p.(Ser11Tyr)	NC_000003.11:g.101039185G>T	VUS	1 lab	3514a34067
6:16145325 MYLIP A>G	6	16145325	16145325	A	G	MYLIP	c.1025A>G	NM_013262.4	NP_037394.2:p.(Asn342Ser)	NC_000006.11:g.16145325A>G	(Likely) benign	1 lab	35166b3e96
11:116661678 APOA5 C>G	11	116661678	116661678	C	G	APOA5	c.267G>C	NM_052968.5	NP_443200.2:p.(Pro89=)	NC_000011.9:g.116661678C>G	(Likely) benign	1 lab	3517c7941e
7:75933160 HSPB1 C>T	7	75933160	75933160	C	T	HSPB1	c.406C>T	NM_001540.5	NP_001531.1:p.(Arg136Trp)	NC_000007.13:g.75933160C>T	(Likely) pathogenic	1 lab	3519ea78e8
5:127863325 FBN2 G>A	5	127863325	127863325	G	A	FBN2	c.532+240C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127863325G>A	(Likely) benign	1 lab	3519fbf750
1:6528262 PLEKHG5 G>A	1	6528262	6528262	G	A	PLEKHG5	c.2634C>T	NM_198681.4	NP_941374.3:p.(Ser878=)	NC_000001.10:g.6528262G>A	(Likely) benign	1 lab	351c6b0b86
12:122255897 SETD1B G>A	12	122255897	122255897	G	A	SETD1B	c.3418+87G>A	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122255897G>A	(Likely) benign	1 lab	351cccb4f1
2:179446707 TTN A>T	2	179446707	179446707	A	T	TTN	c.58685T>A	NM_133378.4	NP_596869.4:p.(Val19562Asp)	NC_000002.11:g.179446707A>T	VUS	1 lab	351fca9fd7
11:129802018 PRDM10 T>C	11	129802018	129802018	T	C	PRDM10	c.1266A>G	NM_020228.3	NP_064613.2:p.(Glu422=)	NC_000011.9:g.129802018T>C	(Likely) benign	1 lab	3520f82050
8:19816584 LPL C>T	8	19816584	19816584	C	T	LPL	c.1019-187C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816584C>T	(Likely) benign	1 lab	3534a19792
9:8978841 PTPRD A>Alt too long to show for this DUP	9	8978841	9043371	A	Alt too long to show for this DUP	PTPRD	c.-142-24636_-104+39855dup	NM_002839.4	NP_002830.1:p.?	NC_000009.11:g.8978842_9043371dup	VUS	1 lab	3535ca7951
19:10906888 DNM2 C>T	19	10906888	10906888	C	T	DNM2	c.1335+13C>T	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10906888C>T	(Likely) benign	1 lab	3539b3425a
1:100661987 DBT GAAAAAAA>G	1	100661987	100662015	GAAAAAAA	G	DBT	c.1282-16_1282-10del	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100662009_100662015del	(Likely) benign	1 lab	353a5c4ebc
10:71144071 HK1 C>T	10	71144071	71144071	C	T	HK1	c.1583-18C>T	NM_001358263.1	NP_001345192.1:p.?	NC_000010.10:g.71144071C>T	(Likely) benign	1 lab	353d2b5795
17:63533732 AXIN2 ATGG>A	17	63533732	63533751	ATGG	A	AXIN2	c.1419_1421del	NM_004655.4	NP_004646.3:p.(His474del)	NC_000017.10:g.63533749_63533751del	(Likely) benign	1 lab	353d7b97aa
7:92122309 PEX1 T>C	7	92122309	92122309	T	C	PEX1	c.2541A>G	NM_001282678.2	NP_001269607.1:p.(Gln847=)	NC_000007.13:g.92122309T>C	(Likely) benign	1 lab	354323b229
7:91726502 AKAP9 C>T	7	91726502	91726502	C	T	AKAP9	c.10229C>T	NM_005751.5	NP_005742.4:p.(Ser3410Phe)	NC_000007.13:g.91726502C>T	VUS	1 lab	3544e04273
3:195997345 PCYT1A C>G	3	195997345	195997345	C	G	PCYT1A	c.58G>C	NM_005017.4	NP_005008.2:p.(Gly20Arg)	NC_000003.11:g.195997345C>G	(Likely) benign	1 lab	35494105a8
15:48727190 FBN1 C>T	15	48727190	48727190	C	T	FBN1	c.6497-280G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48727190C>T	(Likely) benign	1 lab	354b6ed66e
22:21798704 MISSING G>Alt too long to show for this DUP	22	21798704	22055183	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.21798705_22055183dup	VUS	1 lab	354d007f70
8:100587926 VPS13B G>A	8	100587926	100587926	G	A	VPS13B	c.5065G>A	NM_017890.5	NP_060360.3:p.(Val1689Ile)	NC_000008.10:g.100587926G>A	(Likely) benign	1 lab	354d8a98fc
5:16508898 RETREG1 T>C	5	16508898	16508898	T	C	RETREG1	c.-177A>G	NM_019000.5	NP_061873.2:p.?	NC_000005.9:g.16508898T>C	(Likely) benign	1 lab	354e805695
20:3870332 PANK2 G>T	20	3870332	3870332	G	T	PANK2	c.585G>T	NM_153638.4	NP_705902.2:p.(Ser195=)	NC_000020.10:g.3870332G>T	(Likely) benign	1 lab	355336027b
17:45229234 CDC27 A>C	17	45229234	45229234	A	C	CDC27	c.1026T>G	NM_001114091.4	NP_001107563.1:p.(Ser342Arg)	NC_000017.10:g.45229234A>C	(Likely) benign	1 lab	3556e4174a
2:135737565 MAP3K19 Ref too long to show for this DEL>A	2	135737565	135788586	Ref too long to show for this DEL	A	MAP3K19	c.-283-516_3920+825del	NM_025052.5	NP_079328.3:p.?	NC_000002.11:g.135737566_135788586del	VUS	1 lab	35573ac323
15:76957958 SCAPER A>G	15	76957958	76957958	A	G	SCAPER	c.1907+36T>C	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.76957958A>G	(Likely) benign	1 lab	35573fc746
5:1420801 SLC6A3 G>A	5	1420801	1420801	G	A	SLC6A3	c.810C>T	NM_001044.5	NP_001035.1:p.(Ala270=)	NC_000005.9:g.1420801G>A	(Likely) benign	1 lab	355802a173
11:47359116 MYBPC3 G>A	11	47359116	47359116	G	A	MYBPC3	c.2428C>T	NM_000256.3	NP_000247.2:p.(Arg810Cys)	NC_000011.9:g.47359116G>A	VUS	1 lab	355a8007f6
17:37822306 TCAP G>A	17	37822306	37822306	G	A	TCAP	c.448G>A	NM_003673.4	NP_003664.1:p.(Gly150Ser)	NC_000017.10:g.37822306G>A	VUS	1 lab	355f699668
1:74797208 TNNI3K T>C	1	74797208	74797208	T	C	TNNI3K	c.519T>C	NM_015978.3	NP_057062.1:p.(Ile173=)	NC_000001.10:g.74797208T>C	(Likely) benign	1 lab	35642a334c
11:68115191 LRP5 G>A	11	68115191	68115191	G	A	LRP5	c.92-124G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68115191G>A	(Likely) benign	1 lab	357651016b
19:45409114 APOE G>A	19	45409114	45409114	G	A	APOE	c.-12G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409114G>A	VUS	1 lab	3577024767
9:107562835 ABCA1 A>G	9	107562835	107562835	A	G	ABCA1	c.4729T>C	NM_005502.4	NP_005493.2:p.(Leu1577=)	NC_000009.11:g.107562835A>G	(Likely) benign	1 lab	357a4d91e8
2:241727625 KIF1A G>A	2	241727625	241727625	G	A	KIF1A	c.206C>T	NM_001244008.2	NP_001230937.1:p.(Ser69Leu)	NC_000002.11:g.241727625G>A	(Likely) pathogenic	1 lab	357ac8712a
8:144296480 GPIHBP1 G>C	8	144296480	144296480	G	C	GPIHBP1	c.182-408G>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296480G>C	(Likely) benign	1 lab	35812db075
16:68835814 CDH1 T>C	16	68835814	68835814	T	C	CDH1	c.387+18T>C	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68835814T>C	(Likely) benign	1 lab	3584d204a7
19:41595958 CYP2A13 C>T	19	41595958	41595958	C	T	CYP2A13	c.350C>T	NM_000766.5	NP_000757.2:p.(Ala117Val)	NC_000019.9:g.41595958C>T	(Likely) benign	1 lab	3588305546
5:131719846 SLC22A5 C>T	5	131719846	131719846	C	T	SLC22A5	c.577C>T	NM_001308122.2	NP_001295051.1:p.(Arg193Trp)	NC_000005.9:g.131719846C>T	(Likely) pathogenic	1 lab	358bbba96d
1:55529125 PCSK9 C>T	1	55529125	55529125	C	T	PCSK9	c.1947C>T	NM_174936.4	NP_777596.2:p.(Ala649=)	NC_000001.10:g.55529125C>T	(Likely) benign	1 lab	3592368cc7
14:70039803 CCDC177 CGCGGCG>C	14	70039803	70039829	CGCGGCG	C	CCDC177	c.531_536del	NM_001271507.2	NP_001258436.1:p.(Ala179_Ala180del)	NC_000014.8:g.70039824_70039829del	(Likely) benign	1 lab	3598f15a99
16:88498762 ZNF469 G>A	16	88498762	88498762	G	A	ZNF469	c.4884G>A	NM_001367624.2	NP_001354553.1:p.(Thr1628=)	NC_000016.9:g.88498762G>A	(Likely) benign	1 lab	359ff2d0b2
9:107679141 ABCA1 T>C	9	107679141	107679141	T	C	ABCA1	c.-93+11075A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107679141T>C	(Likely) benign	1 lab	35a04f6b2f
3:71027035 FOXP1 G>A	3	71027035	71027035	G	A	FOXP1	c.1292C>T	NM_001349338.3	NP_001336267.1:p.(Thr431Met)	NC_000003.11:g.71027035G>A	VUS	1 lab	35a0c75699
22:21798703 MISSING Ref too long to show for this DEL>G	22	21798703	24631613	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.21798705_24631613del	(Likely) pathogenic	1 lab	35a2aacbda
22:38524358 PLA2G6 G>A	22	38524358	38524358	G	A	PLA2G6	c.732C>T	NM_001349867.2	NP_001336796.1:p.(Pro244=)	NC_000022.10:g.38524358G>A	(Likely) benign	1 lab	35ad5bbe78
7:94030856 COL1A2 AT>A	7	94030856	94030868	AT	A	COL1A2	c.226-11del	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94030868del	(Likely) benign	1 lab	35ad5c2232
2:179439548 TTN TGTCA>T	2	179439548	179439555	TGTCA	T	TTN	c.71307_71310del	NM_001267550.2	NP_001254479.2:p.(Asp23770ValfsTer7)	NC_000002.11:g.179439552_179439555del	(Likely) pathogenic	1 lab	35ae77a8df
Y:5349786 PCDH11Y T>Alt too long to show for this DUP	Y	5349786	5386808	T	Alt too long to show for this DUP	PCDH11Y	c.2854-19311_3052+17512dup	NM_001395587.1	NP_001382516.1:p.?	NC_000024.9:g.5349787_5386808dup	(Likely) pathogenic	1 lab	35b3354165
2:21234676 APOB G>A	2	21234676	21234676	G	A	APOB	c.5064C>T	NM_000384.3	NP_000375.3:p.(Gly1688=)	NC_000002.11:g.21234676G>A	(Likely) benign	1 lab	35b3b48f3b
1:43830676 ELOVL1 G>A	1	43830676	43830676	G	A	ELOVL1	c.241C>T	NM_001256399.2	NP_001243328.1:p.(Leu81=)	NC_000001.10:g.43830676G>A	(Likely) benign	1 lab	35b77f8a1e
16:67974227 LCAT G>A	16	67974227	67974227	G	A	LCAT	c.903C>T	NM_000229.2	NP_000220.1:p.(Asp301=)	NC_000016.9:g.67974227G>A	(Likely) benign	1 lab	35b9eb0ccd
16:67976652 LCAT C>T	16	67976652	67976652	C	T	LCAT	c.445G>A	NM_000229.2	NP_000220.1:p.(Val149Met)	NC_000016.9:g.67976652C>T	(Likely) pathogenic	1 lab	35ba5889f1
1:35251669 GJB3 C>T	1	35251669	35251669	C	T	GJB3	c.*493C>T	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251669C>T	(Likely) benign	1 lab	35c5d8e948
20:42744626 JPH2 G>A	20	42744626	42744626	G	A	JPH2	c.1689C>T	NM_020433.5	NP_065166.2:p.(Tyr563=)	NC_000020.10:g.42744626G>A	(Likely) benign	1 lab	35d0d7f33b
3:11843138 MISSING C>Alt too long to show for this DUP	3	11843138	12075789	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.11843141_12075789dup	VUS	1 lab	35d16d9cd7
16:985947 LMF1 G>A	16	985947	985947	G	A	LMF1	c.-51-1693C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.985947G>A	(Likely) benign	1 lab	35d2769ebc
17:40767031 TUBG1 A>G	17	40767031	40767031	A	G	TUBG1	c.1328A>G	NM_001070.5	NP_001061.2:p.(Tyr443Cys)	NC_000017.10:g.40767031A>G	VUS	1 lab	35dc6c1e36
3:49692833 BSN G>A	3	49692833	49692833	G	A	BSN	c.5844G>A	NM_003458.4	NP_003449.2:p.(Glu1948=)	NC_000003.11:g.49692833G>A	(Likely) benign	1 lab	35de0c871c
5:82815496 VCAN A>G	5	82815496	82815496	A	G	VCAN	c.1371A>G	NM_004385.5	NP_004376.2:p.(Glu457=)	NC_000005.9:g.82815496A>G	(Likely) benign	1 lab	35df686308
8:77745591 ZFHX4 GC>G	8	77745591	77745593	GC	G	ZFHX4	c.3345del	NM_024721.5	NP_078997.4:p.(Arg1116GlyfsTer12)	NC_000008.10:g.77745593del	(Likely) pathogenic	1 lab	35ea8a171d
X:107975912 IRS4 C>T	X	107975912	107975912	C	T	IRS4	c.3663G>A	NM_001379150.1	NP_001366079.1:p.(Arg1221=)	NC_000023.10:g.107975912C>T	(Likely) benign	1 lab	35ed565819
15:80654418 MISSING C>Alt too long to show for this DUP	15	80654418	80845103	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.80654420_80845103dup	VUS	1 lab	35f5c8f76c
16:6845488 RBFOX1 G>Alt too long to show for this DUP	16	6845488	6851869	G	Alt too long to show for this DUP	RBFOX1	c.-16+140838_-16+147218dup	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.6845489_6851869dup	VUS	1 lab	35f712cf93
9:137700854 COL5A1 C>T	9	137700854	137700854	C	T	COL5A1	c.3367-175C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137700854C>T	(Likely) benign	1 lab	35fa57944f
11:47370409 MYBPC3 T>A	11	47370409	47370409	T	A	MYBPC3	c.655-317A>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370409T>A	VUS	1 lab	35fc076229
12:125263042 SCARB1 TG>T	12	125263042	125263045	TG	T	SCARB1	c.1491del	NM_001082959.2	NP_001076428.1:p.(Ser498AlafsTer83)	NC_000012.11:g.125263045del	VUS	1 lab	36016c6dfb
5:1219611 SLC6A19 G>C	5	1219611	1219611	G	C	SLC6A19	c.1379-9G>C	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1219611G>C	(Likely) benign	1 lab	3602a261fb
8:59409614 CYP7A1 T>A	8	59409614	59409614	T	A	CYP7A1	c.457A>T	NM_000780.4	NP_000771.2:p.(Met153Leu)	NC_000008.10:g.59409614T>A	(Likely) benign	1 lab	36051e9cd7
17:75484001 SEPTIN9 G>A	17	75484001	75484001	G	A	SEPTIN9	c.989-321G>A	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484001G>A	(Likely) benign	1 lab	360694831a
15:58830628 LIPC G>A	15	58830628	58830628	G	A	LIPC	c.185G>A	NM_000236.3	NP_000227.2:p.(Cys62Tyr)	NC_000015.9:g.58830628G>A	VUS	1 lab	3607932437
2:98128093 ANKRD36B G>A	2	98128093	98128093	G	A	ANKRD36B	c.3228C>T	NM_025190.4	NP_079466.3:p.(His1076=)	NC_000002.11:g.98128093G>A	(Likely) benign	1 lab	360e70e67c
12:21355502 SLCO1B1 G>A	12	21355502	21355502	G	A	SLCO1B1	c.1213G>A	NM_006446.5	NP_006437.3:p.(Val405Ile)	NC_000012.11:g.21355502G>A	(Likely) benign	1 lab	36117aea29
19:40909751 PRX A>C	19	40909751	40909751	A	C	PRX	c.46T>G	NM_020956.2	NP_066007.1:p.(Leu16Val)	NC_000019.9:g.40909751A>C	(Likely) benign	1 lab	3611a4dea1
2:86565198 REEP1 A>G	2	86565198	86565198	A	G	REEP1				NC_000002.11:g.86565198A>G	VUS	1 lab	36124adfb8
3:69036707 EOGT G>A	3	69036707	69036707	G	A	EOGT	c.1084-43C>T	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69036707G>A	(Likely) benign	1 lab	36135d21c0
2:179543140 TTN C>A	2	179543140	179543140	C	A	TTN	c.33910+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179543140C>A	VUS	1 lab	3613fcde5d
3:32201158 GPD1L A>G	3	32201158	32201158	A	G	GPD1L	c.951A>G	NM_015141.4	NP_055956.1:p.(Leu317=)	NC_000003.11:g.32201158A>G	(Likely) benign	1 lab	3614f92f93
14:23855564 MYH6 T>G	14	23855564	23855564	T	G	MYH6	c.4919A>C	NM_002471.4	NP_002462.2:p.(Glu1640Ala)	NC_000014.8:g.23855564T>G	VUS	1 lab	361647e5f6
2:179465619 TTN G>T	2	179465619	179465619	G	T	TTN	c.56012C>A	NM_001267550.2	NP_001254479.2:p.(Ser18671Ter)	NC_000002.11:g.179465619G>T	(Likely) pathogenic	1 lab	36193bb7f2
7:88424365 TEX47 CAA>C	7	88424365	88424376	CAA	C	TEX47	c.-104-7_-104-6del	NM_152706.4	NP_689919.1:p.?	NC_000007.13:g.88424375_88424376del	(Likely) benign	1 lab	361b14b61f
5:133956753 SAR1B A>G	5	133956753	133956753	A	G	SAR1B	c.59-11T>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133956753A>G	VUS	1 lab	3620f51c9e
17:9124489 NTN1 C>T	17	9124489	9124489	C	T	NTN1	c.1416C>T	NM_004822.3	NP_004813.2:p.(Cys472=)	NC_000017.10:g.9124489C>T	(Likely) benign	1 lab	36282be385
4:22390279 ADGRA3 T>C	4	22390279	22390279	T	C	ADGRA3	c.3015A>G	NM_145290.4	NP_660333.2:p.(Leu1005=)	NC_000004.11:g.22390279T>C	(Likely) benign	1 lab	362e844463
2:220079182 ABCB6 G>A	2	220079182	220079182	G	A	ABCB6	c.1315C>T	NM_005689.4	NP_005680.1:p.(Arg439Cys)	NC_000002.11:g.220079182G>A	VUS	1 lab	3632cfd1a7
X:151209356 MISSING G>Alt too long to show for this DUP	X	151209356	151303023	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151209358_151303023dup	VUS	1 lab	363357e546
6:91269829 MAP3K7 T>C	6	91269829	91269829	T	C	MAP3K7	c.448A>G	NM_145331.3	NP_663304.1:p.(Lys150Glu)	NC_000006.11:g.91269829T>C	VUS	1 lab	363be0eea2
2:179447954 TTN A>T	2	179447954	179447954	A	T	TTN	c.65576T>A	NM_001267550.2	NP_001254479.2:p.(Val21859Asp)	NC_000002.11:g.179447954A>T	VUS	1 lab	363e202409
17:8925784 NTN1 G>C	17	8925784	8925784	G	C	NTN1	c.94G>C	NM_004822.3	NP_004813.2:p.(Ala32Pro)	NC_000017.10:g.8925784G>C	VUS	1 lab	3643aa57aa
2:179422748 TTN G>A	2	179422748	179422748	G	A	TTN	c.79629C>T	NM_133378.4	NP_596869.4:p.(Asp26543=)	NC_000002.11:g.179422748G>A	(Likely) benign	1 lab	36465ad053
8:75276454 GDAP1 G>A	8	75276454	75276454	G	A	GDAP1	c.929G>A	NM_018972.4	NP_061845.2:p.(Arg310Gln)	NC_000008.10:g.75276454G>A	(Likely) pathogenic	1 lab	364b2c4314
1:201332545 TNNT2 G>A	1	201332545	201332545	G	A	TNNT2	c.460-11C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201332545G>A	(Likely) benign	1 lab	364b3743cc
8:19819683 LPL G>A	8	19819683	19819683	G	A	LPL	c.1380G>A	NM_000237.3	NP_000228.1:p.(Ala460=)	NC_000008.10:g.19819683G>A	(Likely) benign	1 lab	364ef0c6dc
9:126144215 DENND1A T>G	9	126144215	126144215	T	G	DENND1A	c.2526A>C	NM_020946.2	NP_065997.1:p.(Pro842=)	NC_000009.11:g.126144215T>G	(Likely) benign	1 lab	3653f2d08a
1:117142751 IGSF3 C>A	1	117142751	117142751	C	A	IGSF3	c.1841G>T	NM_001007237.3	NP_001007238.1:p.(Arg614Leu)	NC_000001.10:g.117142751C>A	(Likely) benign	1 lab	3658baf542
9:107579880 ABCA1 C>T	9	107579880	107579880	C	T	ABCA1	c.3463-195G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579880C>T	(Likely) benign	1 lab	3659097126
16:77331248 ADAMTS18 G>A	16	77331248	77331248	G	A	ADAMTS18	c.2739C>T	NM_199355.4	NP_955387.1:p.(Cys913=)	NC_000016.9:g.77331248G>A	(Likely) benign	1 lab	365bd83b15
6:116950772 RSPH4A GA>G	6	116950772	116950774	GA	G	RSPH4A	c.1707del	NM_001010892.3	NP_001010892.1:p.(Glu570LysfsTer14)	NC_000006.11:g.116950774del	(Likely) pathogenic	1 lab	366211d72f
16:28884961 SH2B1 G>A	16	28884961	28884961	G	A	SH2B1	c.2091G>A	NM_001387430.1	NP_001374359.1:p.(Glu697=)	NC_000016.9:g.28884961G>A	(Likely) benign	1 lab	3667d87336
3:93754286 ARL13B GTTT>G	3	93754286	93754302	GTTT	G	ARL13B	c.486+20_486+22del	NM_001174150.2	NP_001167621.1:p.?	NC_000003.11:g.93754300_93754302del	(Likely) benign	1 lab	366953f32e
10:121436700 BAG3 C>G	10	121436700	121436700	C	G	BAG3	c.1634C>G	NM_004281.4	NP_004272.2:p.(Pro545Arg)	NC_000010.10:g.121436700C>G	VUS	1 lab	366d2f798b
17:48268553 COL1A1 C>G	17	48268553	48268553	C	G	COL1A1	c.2235+191G>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48268553C>G	(Likely) benign	1 lab	366de1542e
3:184075958 CLCN2 C>T	3	184075958	184075958	C	T	CLCN2	c.481+12G>A	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184075958C>T	(Likely) benign	1 lab	366f33fa11
14:23243619 SLC7A7 TAGAA>T	14	23243619	23243625	TAGAA	T	SLC7A7	c.1185_1188del	NM_001126106.4	NP_001119578.1:p.(Ser396LeufsTer122)	NC_000014.8:g.23243622_23243625del	(Likely) pathogenic	1 lab	367151e053
8:1806248 ARHGEF10 G>A	8	1806248	1806248	G	A	ARHGEF10	c.232G>A	NM_001308153.2	NP_001295082.1:p.(Gly78Ser)	NC_000008.10:g.1806248G>A	(Likely) benign	1 lab	367910f00a
15:44889117 SPG11 T>C	15	44889117	44889117	T	C	SPG11	c.4026A>G	NM_025137.4	NP_079413.3:p.(Gln1342=)	NC_000015.9:g.44889117T>C	(Likely) benign	1 lab	3685ae8c93
5:127680174 FBN2 C>T	5	127680174	127680174	C	T	FBN2	c.3246G>A	NM_001999.4	NP_001990.2:p.(Gly1082=)	NC_000005.9:g.127680174C>T	(Likely) benign	1 lab	3688f633eb
2:179407050 TTN T>G	2	179407050	179407050	T	G	TTN	c.97433A>C	NM_001267550.2	NP_001254479.2:p.(Asn32478Thr)	NC_000002.11:g.179407050T>G	VUS	1 lab	368a707518
14:104151941 MISSING C>Alt too long to show for this DUP	14	104151941	104714202	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.104151944_104714202dup	VUS	1 lab	368f2bbe32
9:6677322 MISSING Ref too long to show for this DEL>A	9	6677322	6743452	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.6677323_6743452del	VUS	1 lab	368f77c55b
8:144297008 GPIHBP1 G>A	8	144297008	144297008	G	A	GPIHBP1	c.295+7G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297008G>A	(Likely) benign	1 lab	36908b835d
19:45452051 APOC2 C>A	19	45452051	45452051	C	A	APOC2	c.149C>A	NM_000483.5	NP_000474.2:p.(Ser50Ter)	NC_000019.9:g.45452051C>A	(Likely) pathogenic	1 lab	3693b07de0
19:11210488 LDLR A>G	19	11210488	11210488	A	G	LDLR	c.68-411A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210488A>G	VUS	1 lab	36961b7b2f
12:30818370 IPO8 T>C	12	30818370	30818370	T	C	IPO8	c.1339-127A>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30818370T>C	(Likely) benign	1 lab	36987fd013
1:218610809 TGFB2 T>G	1	218610809	218610809	T	G	TGFB2	c.1141T>G	NM_001135599.4	NP_001129071.1:p.(Leu381Val)	NC_000001.10:g.218610809T>G	VUS	1 lab	369db51474
21:43702437 ABCG1 C>T	21	43702437	43702437	C	T	ABCG1	c.648C>T	NM_207627.2	NP_997510.1:p.(Thr216=)	NC_000021.8:g.43702437C>T	(Likely) benign	1 lab	369e4df611
16:31191541 FUS C>T	16	31191541	31191541	C	T	FUS	c.6C>T	NM_004960.4	NP_004951.1:p.(Ala2=)	NC_000016.9:g.31191541C>T	(Likely) benign	1 lab	36a0d2692b
11:71149991 DHCR7 G>T	11	71149991	71149991	G	T	DHCR7	c.765C>A	NM_001360.3	NP_001351.2:p.(Phe255Leu)	NC_000011.9:g.71149991G>T	(Likely) pathogenic	1 lab	36a191f752
12:21327595 SLCO1B1 T>A	12	21327595	21327595	T	A	SLCO1B1	c.311T>A	NM_006446.5	NP_006437.3:p.(Met104Lys)	NC_000012.11:g.21327595T>A	(Likely) benign	1 lab	36a56de3e3
18:19383958 MIB1 G>A	18	19383958	19383958	G	A	MIB1	c.1462G>A	NM_020774.4	NP_065825.1:p.(Val488Met)	NC_000018.9:g.19383958G>A	VUS	1 lab	36a5a379b6
8:22067022 BMP1 C>A	8	22067022	22067022	C	A	BMP1	c.2640C>A	NM_006129.5	NP_006120.1:p.(Gly880=)	NC_000008.10:g.22067022C>A	(Likely) benign	1 lab	36a8dc497a
1:156838360 NTRK1 T>C	1	156838360	156838360	T	C	NTRK1	c.638T>C	NM_002529.4	NP_002520.2:p.(Leu213Pro)	NC_000001.10:g.156838360T>C	(Likely) pathogenic	1 lab	36adbeb899
2:32626258 MISSING Ref too long to show for this DEL>C	2	32626258	33001100	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.32626260_33001100del	VUS	1 lab	36ae752563
8:19817997 LPL G>C	8	19817997	19817997	G	C	LPL	c.1140-415G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817997G>C	(Likely) benign	1 lab	36aeb0d25a
14:74976082 LTBP2 G>A	14	74976082	74976082	G	A	LTBP2	c.3278-16C>T	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.74976082G>A	(Likely) benign	1 lab	36b424a1fb
3:38674812 SCN5A TTCTGGGCACAGGC>T	3	38674812	38674828	TTCTGGGCACAGGC	T	SCN5A	c.-27_-15del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38674816_38674828del	VUS	1 lab	36b5552f85
19:1226524 STK11 G>A	19	1226524	1226524	G	A	STK11	c.1180G>A	NM_000455.5	NP_000446.1:p.(Gly394Ser)	NC_000019.9:g.1226524G>A	VUS	1 lab	36b75e2438
2:17018 MISSING Ref too long to show for this DEL>A	2	17018	306286	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.17019_306286del	VUS	1 lab	36ba8512cb
2:238249596 COL6A3 G>C	2	238249596	238249596	G	C	COL6A3	c.7963C>G	NM_004369.4	NP_004360.2:p.(Pro2655Ala)	NC_000002.11:g.238249596G>C	VUS	1 lab	36c4acfc6a
16:1004024 LMF1 CACCCCAAACCAGCCTCCTACACGTCCACACAGACACAG>C	16	1004024	1004066	CACCCCAAACCAGCCTCCTACACGTCCACACAGACACAG	C	LMF1	c.503+295_503+332del	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004029_1004066del	(Likely) benign	1 lab	36c66c19ed
14:60976464 SIX6 G>A	14	60976464	60976464	G	A	SIX6	c.348G>A	NM_007374.3	NP_031400.2:p.(Arg116=)	NC_000014.8:g.60976464G>A	(Likely) benign	1 lab	36c9912935
11:17435966 ABCC8 G>A	11	17435966	17435966	G	A	ABCC8	c.2393+93C>T	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17435966G>A	(Likely) benign	1 lab	36ca84f6c8
15:42680036 CAPN3 A>G	15	42680036	42680036	A	G	CAPN3	c.584A>G	NM_000070.3	NP_000061.1:p.(Asn195Ser)	NC_000015.9:g.42680036A>G	(Likely) benign	1 lab	36cbfb8f51
15:48888509 FBN1 T>C	15	48888509	48888509	T	C	FBN1	c.509A>G	NM_000138.5	NP_000129.3:p.(Tyr170Cys)	NC_000015.9:g.48888509T>C	(Likely) pathogenic	1 lab	36cd4e2d72
3:160142810 SMC4 ATGTGTGTGTG>A	3	160142810	160142841	ATGTGTGTGTG	A	SMC4	c.2478+25_2478+34del	NM_001002800.3	NP_001002800.1:p.?	NC_000003.11:g.160142832_160142841del	(Likely) benign	1 lab	36d1dbe081
10:121436808 BAG3 A>G	10	121436808	121436808	A	G	BAG3	c.*14A>G	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121436808A>G	(Likely) benign	1 lab	36d2d797fa
10:73492073 C10orf105 C>T	10	73492073	73492073	C	T	C10orf105	c.-6+5412G>A	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73492073C>T	(Likely) benign	1 lab	36d4c2368b
2:48027072 MSH6 C>G	2	48027072	48027072	C	G	MSH6	c.1950C>G	NM_000179.3	NP_000170.1:p.(Gly650=)	NC_000002.11:g.48027072C>G	(Likely) benign	1 lab	36d5c42e02
9:163130 MISSING Ref too long to show for this DEL>T	9	163130	8582091	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.163131_8582091del	(Likely) pathogenic	1 lab	36db6c5824
1:35250549 GJB3 C>T	1	35250549	35250549	C	T	GJB3	c.186C>T	NM_024009.3	NP_076872.1:p.(Asn62=)	NC_000001.10:g.35250549C>T	(Likely) benign	1 lab	36de69a92c
1:168074145 GPR161 G>A	1	168074145	168074145	G	A	GPR161	c.-44-13C>T	NM_001349632.1	NP_001336561.1:p.?	NC_000001.10:g.168074145G>A	(Likely) benign	1 lab	36e078dcef
21:45995784 TSPEAR C>Alt too long to show for this DUP	21	45995784	46045641	C	Alt too long to show for this DUP	TSPEAR	c.83-57752_83-7896dup	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.45995785_46045641dup	VUS	1 lab	36e3e2ee3f
1:216370021 USH2A C>G	1	216370021	216370021	C	G	USH2A	c.4125G>C	NM_206933.4	NP_996816.3:p.(Ser1375=)	NC_000001.10:g.216370021C>G	(Likely) benign	1 lab	36e4e5d8b0
2:179482626 TTN C>A	2	179482626	179482626	C	A	TTN	c.47452G>T	NM_001267550.2	NP_001254479.2:p.(Ala15818Ser)	NC_000002.11:g.179482626C>A	VUS	1 lab	36e552969f
2:73680671 ALMS1 G>A	2	73680671	73680671	G	A	ALMS1	c.7020G>A	NM_015120.4	NP_055935.4:p.(Gln2340=)	NC_000002.11:g.73680671G>A	(Likely) benign	1 lab	36e599a2ce
2:220082446 ABCB6 G>C	2	220082446	220082446	G	C	ABCB6	c.633C>G	NM_005689.4	NP_005680.1:p.(Pro211=)	NC_000002.11:g.220082446G>C	(Likely) benign	1 lab	36e7a951e6
15:85360714 ALPK3 TGGGGCGCGGGTGGGCGGTCGGGGGCG>T	15	85360714	85360744	TGGGGCGCGGGTGGGCGGTCGGGGGCG	T	ALPK3	c.36_61del	NM_020778.5	NP_065829.4:p.(Ala13ArgfsTer3)	NC_000015.9:g.85360719_85360744del	(Likely) pathogenic	1 lab	36ed267a99
2:44065786 ABCG5 C>A	2	44065786	44065786	C	A	ABCG5	c.33G>T	NM_022436.3	NP_071881.1:p.(Gly11=)	NC_000002.11:g.44065786C>A	(Likely) benign	1 lab	36ed716e4d
12:53729425 SP7 C>T	12	53729425	53729425	C	T	SP7	c.6G>A	NM_001173467.3	NP_001166938.1:p.(Ala2=)	NC_000012.11:g.53729425C>T	(Likely) benign	1 lab	36ee486c44
13:114325879 GRK1 C>T	13	114325879	114325879	C	T	GRK1	c.893C>T	NM_002929.3	NP_002920.1:p.(Thr298Met)	NC_000013.10:g.114325879C>T	VUS	1 lab	36f04152dc
2:106002887 FHL2 C>G	2	106002887	106002887	C	G	FHL2	c.87G>C	NM_001318895.3	NP_001305824.1:p.(Val29=)	NC_000002.11:g.106002887C>G	(Likely) benign	1 lab	36f4817f42
10:88439144 LDB3 A>C	10	88439144	88439144	A	C	LDB3	c.114A>C	NM_001171610.2	NP_001165081.1:p.(Ala38=)	NC_000010.10:g.88439144A>C	(Likely) benign	1 lab	36f4ae2e44
9:107591389 ABCA1 G>A	9	107591389	107591389	G	A	ABCA1	c.1923C>T	NM_005502.4	NP_005493.2:p.(Pro641=)	NC_000009.11:g.107591389G>A	(Likely) benign	1 lab	36f79d8930
4:16215415 TAPT1 C>T	4	16215415	16215415	C	T	TAPT1	c.306G>A	NM_153365.3	NP_699196.2:p.(Leu102=)	NC_000004.11:g.16215415C>T	(Likely) benign	1 lab	36faa46c61
11:125831662 CDON G>A	11	125831662	125831662	G	A	CDON	c.3588C>T	NM_001243597.2	NP_001230526.1:p.(Asp1196=)	NC_000011.9:g.125831662G>A	(Likely) benign	1 lab	3700e3f06f
1:103377698 COL11A1 G>A	1	103377698	103377698	G	A	COL11A1	c.4122+17C>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103377698G>A	(Likely) benign	1 lab	3704c38dc9
1:63063688 ANGPTL3 A>G	1	63063688	63063688	A	G	ANGPTL3	c.451A>G	NM_014495.4	NP_055310.1:p.(Asn151Asp)	NC_000001.10:g.63063688A>G	(Likely) benign	1 lab	37097c9ac7
5:148427464 SH3TC2 TGCCCAGA>T	5	148427464	148427474	TGCCCAGA	T	SH3TC2	c.233_239del	NM_024577.4	NP_078853.2:p.(Leu78HisfsTer49)	NC_000005.9:g.148427468_148427474del	VUS	1 lab	370d24a0ec
1:92737025 GLMN A>C	1	92737025	92737025	A	C	GLMN	c.920T>G	NM_053274.3	NP_444504.1:p.(Leu307Ter)	NC_000001.10:g.92737025A>C	(Likely) pathogenic	1 lab	370f7458fb
5:11346600 CTNND2 T>C	5	11346600	11346600	T	C	CTNND2	c.1512A>G	NM_001332.4	NP_001323.1:p.(Arg504=)	NC_000005.9:g.11346600T>C	(Likely) benign	1 lab	3710607c68
6:7581485 DSP G>A	6	7581485	7581485	G	A	DSP	c.5062G>A	NM_004415.4	NP_004406.2:p.(Ala1688Thr)	NC_000006.11:g.7581485G>A	VUS	1 lab	37111071cc
1:6038324 NPHP4 G>A	1	6038324	6038324	G	A	NPHP4	c.279+6C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6038324G>A	(Likely) benign	1 lab	3711a51d87
1:25883731 LDLRAP1 C>T	1	25883731	25883731	C	T	LDLRAP1	c.432C>T	NM_015627.3	NP_056442.2:p.(His144=)	NC_000001.10:g.25883731C>T	(Likely) benign	1 lab	371551bcd4
2:179431481 TTN T>G	2	179431481	179431481	T	G	TTN	c.79378A>C	NM_001267550.2	NP_001254479.2:p.(Arg26460=)	NC_000002.11:g.179431481T>G	(Likely) benign	1 lab	371fe57faa
15:48752527 FBN1 A>C	15	48752527	48752527	A	C	FBN1	c.5225-13T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752527A>C	(Likely) benign	1 lab	37222cb4b6
2:21234737 APOB T>C	2	21234737	21234737	T	C	APOB	c.5003A>G	NM_000384.3	NP_000375.3:p.(Glu1668Gly)	NC_000002.11:g.21234737T>C	VUS	1 lab	3722481ea1
1:43215930 P3H1 C>T	1	43215930	43215930	C	T	P3H1	c.1647G>A	NM_001243246.2	NP_001230175.1:p.(Met549Ile)	NC_000001.10:g.43215930C>T	(Likely) benign	1 lab	37233fb096
1:237807484 RYR2 A>Alt too long to show for this DUP	1	237807484	238000883	A	Alt too long to show for this DUP	RYR2				NC_000001.10:g.237807486_238000883dup	VUS	1 lab	3728d59b58
10:112570272 RBM20 A>T	10	112570272	112570272	A	T	RBM20	c.1880+52A>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112570272A>T	(Likely) benign	1 lab	3729320614
9:123280862 CDK5RAP2 G>GAGCGC	9	123280862	123280875	G	GAGCGC	CDK5RAP2	c.1149_1153dup	NM_018249.6	NP_060719.4:p.(Ser385CysfsTer26)	NC_000009.11:g.123280871_123280875dup	(Likely) pathogenic	1 lab	372ae4b9a1
12:57908749 MARS1 C>CT	12	57908749	57908751	C	CT	MARS1	c.2114dup	NM_004990.4	NP_004981.2:p.(Leu705PhefsTer19)	NC_000012.11:g.57908751dup	VUS	1 lab	372cf752e3
6:7558316 DSP T>A	6	7558316	7558316	T	A	DSP	c.274-33T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558316T>A	(Likely) benign	1 lab	372ec5993a
2:179485926 TTN C>G	2	179485926	179485926	C	G	TTN	c.45519G>C	NM_001267550.2	NP_001254479.2:p.(Lys15173Asn)	NC_000002.11:g.179485926C>G	VUS	1 lab	3733d017ae
8:61773537 CHD7 A>G	8	61773537	61773537	A	G	CHD7	c.7683A>G	NM_017780.4	NP_060250.2:p.(Gly2561=)	NC_000008.10:g.61773537A>G	(Likely) benign	1 lab	373781491d
9:107589234 ABCA1 A>G	9	107589234	107589234	A	G	ABCA1	c.2332T>C	NM_005502.4	NP_005493.2:p.(Phe778Leu)	NC_000009.11:g.107589234A>G	(Likely) benign	1 lab	373cc04dc8
12:50500080 GPD1 G>A	12	50500080	50500080	G	A	GPD1	c.370G>A	NM_005276.4	NP_005267.2:p.(Glu124Lys)	NC_000012.11:g.50500080G>A	(Likely) benign	1 lab	373e4a105c
8:59404158 CYP7A1 T>C	8	59404158	59404158	T	C	CYP7A1	c.1391A>G	NM_000780.4	NP_000771.2:p.(Tyr464Cys)	NC_000008.10:g.59404158T>C	(Likely) pathogenic	1 lab	373edac63b
11:66288724 BBS1 G>T	11	66288724	66288724	G	T	BBS1	c.724-17G>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66288724G>T	(Likely) benign	1 lab	373fa4e33e
2:166170207 SCN2A G>A	2	166170207	166170207	G	A	SCN2A	c.1112G>A	NM_001040143.2	NP_001035233.1:p.(Ser371Asn)	NC_000002.11:g.166170207G>A	VUS	1 lab	37469d6844
1:154744551 KCNN3 C>G	1	154744551	154744551	C	G	KCNN3	c.1348G>C	NM_001204087.2	NP_001191016.1:p.(Val450Leu)	NC_000001.10:g.154744551C>G	VUS	1 lab	3749d59f9f
8:19816860 LPL G>A	8	19816860	19816860	G	A	LPL	c.1108G>A	NM_000237.3	NP_000228.1:p.(Val370Met)	NC_000008.10:g.19816860G>A	VUS	1 lab	374d79600a
1:6158643 KCNAB2 C>T	1	6158643	6158643	C	T	KCNAB2	c.*9C>T	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6158643C>T	VUS	1 lab	37513023b7
10:54040486 PRKG1 A>T	10	54040486	54040486	A	T	PRKG1	c.1404-63A>T	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.54040486A>T	(Likely) benign	1 lab	37516663c5
15:58855848 LIPC A>G	15	58855848	58855848	A	G	LIPC	c.1314A>G	NM_000236.3	NP_000227.2:p.(Pro438=)	NC_000015.9:g.58855848A>G	(Likely) benign	1 lab	37562d3c77
1:101197012 VCAM1 A>G	1	101197012	101197012	A	G	VCAM1	c.1463A>G	NM_001078.4	NP_001069.1:p.(His488Arg)	NC_000001.10:g.101197012A>G	(Likely) benign	1 lab	37577887d9
12:64890765 TBK1 G>A	12	64890765	64890765	G	A	TBK1	c.1797G>A	NM_013254.4	NP_037386.1:p.(Thr599=)	NC_000012.11:g.64890765G>A	(Likely) benign	1 lab	375bb1a175
2:179403981 TTN G>C	2	179403981	179403981	G	C	TTN	c.98684-3C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179403981G>C	VUS	1 lab	375bfe8f0a
1:40779858 COL9A2 C>T	1	40779858	40779858	C	T	COL9A2	c.249+19G>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40779858C>T	(Likely) benign	1 lab	375d490575
9:21333430 KLHL9 C>T	9	21333430	21333430	C	T	KLHL9	c.1429G>A	NM_018847.4	NP_061335.1:p.(Ala477Thr)	NC_000009.11:g.21333430C>T	VUS	1 lab	3763f3eb10
12:104378698 TDG G>GA	12	104378698	104378699	G	GA	TDG	c.964_964+1insA	NM_003211.6	NP_003202.3:p.?	NC_000012.11:g.104378698_104378699insA	(Likely) benign	1 lab	3767a752c5
2:179603938 TTN C>T	2	179603938	179603938	C	T	TTN	c.14022G>A	NM_001267550.2	NP_001254479.2:p.(Glu4674=)	NC_000002.11:g.179603938C>T	(Likely) benign	1 lab	376baa27b3
8:59409231 CYP7A1 G>A	8	59409231	59409231	G	A	CYP7A1	c.840C>T	NM_000780.4	NP_000771.2:p.(Leu280=)	NC_000008.10:g.59409231G>A	(Likely) benign	1 lab	376bdbba8b
2:179436797 TTN G>A	2	179436797	179436797	G	A	TTN	c.74062C>T	NM_001267550.2	NP_001254479.2:p.(Arg24688Cys)	NC_000002.11:g.179436797G>A	VUS	1 lab	376cae6a40
2:179645895 TTN C>A	2	179645895	179645895	C	A	TTN	c.3476G>T	NM_001267550.2	NP_001254479.2:p.(Arg1159Leu)	NC_000002.11:g.179645895C>A	VUS	1 lab	376d75a38f
11:121461767 SORL1 A>G	11	121461767	121461767	A	G	SORL1	c.4271A>G	NM_003105.6	NP_003096.2:p.(Tyr1424Cys)	NC_000011.9:g.121461767A>G	VUS	1 lab	376ee6e117
1:201331066 TNNT2 C>A	1	201331066	201331066	C	A	TNNT2	c.664G>T	NM_001001430.3	NP_001001430.1:p.(Asp222Tyr)	NC_000001.10:g.201331066C>A	VUS	1 lab	376f226bb1
9:107584791 ABCA1 C>T	9	107584791	107584791	C	T	ABCA1	c.2814G>A	NM_005502.4	NP_005493.2:p.(Gly938=)	NC_000009.11:g.107584791C>T	(Likely) benign	1 lab	37714881ae
X:153695475 PLXNA3 C>T	X	153695475	153695475	C	T	PLXNA3	c.3183C>T	NM_017514.5	NP_059984.3:p.(Arg1061=)	NC_000023.10:g.153695475C>T	(Likely) benign	1 lab	37788c7f29
1:240370974 FMN2 C>T	1	240370974	240370974	C	T	FMN2	c.2874C>T	NM_001305424.2	NP_001292353.1:p.(Pro958=)	NC_000001.10:g.240370974C>T	(Likely) benign	1 lab	3779d1c738
12:112939968 PTPN11 C>T	12	112939968	112939968	C	T	PTPN11	c.1620C>T	NM_002834.5	NP_002825.3:p.(His540=)	NC_000012.11:g.112939968C>T	(Likely) benign	1 lab	377d7c34b8
2:44051120 ABCG5 C>T	2	44051120	44051120	C	T	ABCG5	c.1256G>A	NM_022436.3	NP_071881.1:p.(Arg419His)	NC_000002.11:g.44051120C>T	VUS	1 lab	377dc6e30c
7:100419931 EPHB4 G>A	7	100419931	100419931	G	A	EPHB4	c.770C>T	NM_004444.5	NP_004435.3:p.(Pro257Leu)	NC_000007.13:g.100419931G>A	VUS	1 lab	3780d196ee
4:123664058 BBS12 T>C	4	123664058	123664058	T	C	BBS12	c.1011T>C	NM_001178007.2	NP_001171478.1:p.(Val337=)	NC_000004.11:g.123664058T>C	(Likely) benign	1 lab	3782029bea
4:5735077 EVC G>A	4	5735077	5735077	G	A	EVC	c.618-1G>A	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5735077G>A	(Likely) pathogenic	1 lab	37865abe35
11:65314546 LTBP3 C>A	11	65314546	65314546	C	A	LTBP3	c.2108-155G>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65314546C>A	(Likely) benign	1 lab	378f162791
8:10465264 RP1L1 C>T	8	10465264	10465264	C	T	RP1L1	c.6344G>A	NM_178857.6	NP_849188.4:p.(Gly2115Asp)	NC_000008.10:g.10465264C>T	(Likely) benign	1 lab	3793185d79
18:25589822 CDH2 T>G	18	25589822	25589822	T	G	CDH2	c.561A>C	NM_001792.5	NP_001783.2:p.(Arg187Ser)	NC_000018.9:g.25589822T>G	VUS	1 lab	3795fdc54c
11:1266617 MUC5B C>T	11	1266617	1266617	C	T	MUC5B	c.8507C>T	NM_002458.3	NP_002449.2:p.(Thr2836Ile)	NC_000011.9:g.1266617C>T	(Likely) benign	1 lab	3799fd7123
12:122248654 SETD1B G>A	12	122248654	122248654	G	A	SETD1B	c.1803G>A	NM_001353345.2	NP_001340274.1:p.(Pro601=)	NC_000012.11:g.122248654G>A	(Likely) benign	1 lab	379ad2314e
7:100420155 EPHB4 A>G	7	100420155	100420155	A	G	EPHB4	c.546T>C	NM_004444.5	NP_004435.3:p.(Gly182=)	NC_000007.13:g.100420155A>G	(Likely) benign	1 lab	379d8367e1
15:49048486 CEP152 G>A	15	49048486	49048486	G	A	CEP152	c.2959C>T	NM_001194998.2	NP_001181927.1:p.(Arg987Ter)	NC_000015.9:g.49048486G>A	(Likely) pathogenic	1 lab	379f41add5
10:68535198 CTNNA3 TC>T	10	68535198	68535199	TC	T	CTNNA3	c.1128+3del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535199del	(Likely) benign	1 lab	379f455c86
20:13134768 SPTLC3 T>C	20	13134768	13134768	T	C	SPTLC3	c.1398T>C	NM_018327.4	NP_060797.2:p.(Tyr466=)	NC_000020.10:g.13134768T>C	(Likely) benign	1 lab	37a069e912
6:34593513 MISSING T>Alt too long to show for this DUP	6	34593513	34700154	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.34593518_34700154dup	VUS	1 lab	37a1a392d9
6:7581262 DSP C>T	6	7581262	7581262	C	T	DSP	c.4839C>T	NM_004415.4	NP_004406.2:p.(Thr1613=)	NC_000006.11:g.7581262C>T	(Likely) benign	1 lab	37b5243fe4
8:10467627 RP1L1 T>TAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCC	8	10467627	10467628	T	TAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCC	RP1L1	c.3980_3981insGGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTT	NM_178857.6	NP_849188.4:p.(Gly1330_Glu1340dup)	NC_000008.10:g.10467627_10467628insAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCC	(Likely) benign	1 lab	37b74c0657
2:179611116 TTN A>G	2	179611116	179611116	A	G	TTN	c.16011T>C	NM_133379.5	NP_596870.2:p.(Thr5337=)	NC_000002.11:g.179611116A>G	(Likely) benign	1 lab	37ba749d90
12:58220811 CTDSP2 G>T	12	58220811	58220811	G	T	CTDSP2	c.322C>A	NM_005730.4	NP_005721.3:p.(Leu108Ile)	NC_000012.11:g.58220811G>T	(Likely) benign	1 lab	37bebcf354
1:26387733 TRIM63 C>T	1	26387733	26387733	C	T	TRIM63	c.425G>A	NM_032588.4	NP_115977.2:p.(Cys142Tyr)	NC_000001.10:g.26387733C>T	VUS	1 lab	37bec44456
14:23873916 MYH6 G>A	14	23873916	23873916	G	A	MYH6	c.642+4C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873916G>A	VUS	1 lab	37c19bed99
19:5692211 LONP1 G>A	19	5692211	5692211	G	A	LONP1	c.2712C>T	NM_004793.4	NP_004784.2:p.(Arg904=)	NC_000019.9:g.5692211G>A	(Likely) benign	1 lab	37c3c60df7
14:105417285 AHNAK2 C>G	14	105417285	105417285	C	G	AHNAK2	c.4503G>C	NM_138420.4	NP_612429.2:p.(Pro1501=)	NC_000014.8:g.105417285C>G	(Likely) benign	1 lab	37c93de5fc
19:11226322 LDLR G>C	19	11226322	11226322	G	C	LDLR	c.1587-448G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226322G>C	(Likely) benign	1 lab	37d15993a8
20:45362464 SLC2A10 G>A	20	45362464	45362464	G	A	SLC2A10	c.1617G>A	NM_030777.4	NP_110404.1:p.(Ala539=)	NC_000020.10:g.45362464G>A	(Likely) benign	1 lab	37d3da148d
16:23647206 PALB2 C>T	16	23647206	23647206	C	T	PALB2	c.661G>A	NM_024675.4	NP_078951.2:p.(Val221Ile)	NC_000016.9:g.23647206C>T	(Likely) benign	1 lab	37d47ce15c
2:179615006 TTN C>T	2	179615006	179615006	C	T	TTN	c.12121G>A	NM_133379.5	NP_596870.2:p.(Val4041Ile)	NC_000002.11:g.179615006C>T	VUS	1 lab	37d532275d
2:179417823 TTN G>T	2	179417823	179417823	G	T	TTN	c.89804C>A	NM_001267550.2	NP_001254479.2:p.(Ala29935Asp)	NC_000002.11:g.179417823G>T	VUS	1 lab	37d7d25a52
21:47676801 MCM3AP C>T	21	47676801	47676801	C	T	MCM3AP	c.3834G>A	NM_003906.5	NP_003897.2:p.(Ala1278=)	NC_000021.8:g.47676801C>T	(Likely) benign	1 lab	37da436bb4
6:10796217 MAK G>A	6	10796217	10796217	G	A	MAK	c.1143+14C>T	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10796217G>A	(Likely) benign	1 lab	37db744002
2:179569635 TTN G>T	2	179569635	179569635	G	T	TTN	c.29663C>A	NM_001267550.2	NP_001254479.2:p.(Ser9888Ter)	NC_000002.11:g.179569635G>T	VUS	1 lab	37e605f163
20:19981421 RIN2 A>T	20	19981421	19981421	A	T	RIN2	c.2676A>T	NM_001242581.2	NP_001229510.1:p.(Thr892=)	NC_000020.10:g.19981421A>T	(Likely) benign	1 lab	37e6735efa
2:172953888 MISSING G>Alt too long to show for this DUP	2	172953888	173123587	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.172953889_173123587dup	VUS	1 lab	37ecc4acbe
3:184046564 EIF4G1 A>G	3	184046564	184046564	A	G	EIF4G1	c.4082+20A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184046564A>G	(Likely) benign	1 lab	37ee8d4a6f
2:44051160 ABCG5 G>A	2	44051160	44051160	G	A	ABCG5	c.1216C>T	NM_022436.3	NP_071881.1:p.(Arg406Trp)	NC_000002.11:g.44051160G>A	VUS	1 lab	37f104f649
15:58853623 LIPC A>G	15	58853623	58853623	A	G	LIPC	c.1169+443A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853623A>G	(Likely) benign	1 lab	37f1b44751
1:237804240 RYR2 G>A	1	237804240	237804240	G	A	RYR2	c.7159G>A	NM_001035.3	NP_001026.2:p.(Ala2387Thr)	NC_000001.10:g.237804240G>A	(Likely) pathogenic	1 lab	37f7a7bf5a
8:87656061 CNGB3 T>C	8	87656061	87656061	T	C	CNGB3	c.1096A>G	NM_019098.5	NP_061971.3:p.(Ile366Val)	NC_000008.10:g.87656061T>C	VUS	1 lab	37fbdf256b
19:11241904 LDLR G>A	19	11241904	11241904	G	A	LDLR	c.2548-53G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241904G>A	(Likely) benign	1 lab	37fe947601
7:150873238 ASB10 G>A	7	150873238	150873238	G	A	ASB10	c.1251C>T	NM_001142460.1	NP_001135932.2:p.(Leu417=)	NC_000007.13:g.150873238G>A	(Likely) benign	1 lab	380344bd5e
9:72131194 APBA1 G>A	9	72131194	72131194	G	A	APBA1	c.933C>T	NM_001163.4	NP_001154.2:p.(Pro311=)	NC_000009.11:g.72131194G>A	(Likely) benign	1 lab	380525e2b3
1:237659953 RYR2 G>A	1	237659953	237659953	G	A	RYR2	c.2104G>A	NM_001035.3	NP_001026.2:p.(Gly702Arg)	NC_000001.10:g.237659953G>A	VUS	1 lab	3807b1fec7
12:125270878 SCARB1 G>A	12	125270878	125270878	G	A	SCARB1	c.1426C>T	NM_001367981.1	NP_001354910.1:p.(Arg476Trp)	NC_000012.11:g.125270878G>A	(Likely) benign	1 lab	380cef00ee
9:107547734 ABCA1 C>G	9	107547734	107547734	C	G	ABCA1	c.6588G>C	NM_005502.4	NP_005493.2:p.(Gln2196His)	NC_000009.11:g.107547734C>G	VUS	1 lab	3811733a58
4:6598976 MAN2B2 G>A	4	6598976	6598976	G	A	MAN2B2	c.1194G>A	NM_015274.3	NP_056089.1:p.(Leu398=)	NC_000004.11:g.6598976G>A	(Likely) benign	1 lab	38c54594f5
17:48646346 CACNA1G AGT>A	17	48646346	48646376	AGT	A	CACNA1G	c.354+33_354+34del	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646375_48646376del	(Likely) benign	1 lab	38155b3639
5:127653668 FBN2 G>A	5	127653668	127653668	G	A	FBN2	c.4717+173C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653668G>A	(Likely) benign	1 lab	3818a73877
4:106320223 PPA2 ACTGGTTTT>A	4	106320223	106320240	ACTGGTTTT	A	PPA2	c.746_753del	NM_176869.3	NP_789845.1:p.(Glu249ValfsTer4)	NC_000004.11:g.106320233_106320240del	VUS	1 lab	381906c92e
X:135814309 ARHGEF6 G>A	X	135814309	135814309	G	A	ARHGEF6	c.684C>T	NM_004840.3	NP_004831.1:p.(Ala228=)	NC_000023.10:g.135814309G>A	(Likely) benign	1 lab	38205db94a
1:161279684 MPZ CCCAGGAG>C	1	161279684	161279694	CCCAGGAG	C	MPZ	c.5_11del	NM_000530.8	NP_000521.2:p.(Ala2GlyfsTer43)	NC_000001.10:g.161279688_161279694del	(Likely) pathogenic	1 lab	382d42fbcd
15:85382306 ALPK3 C>T	15	85382306	85382306	C	T	ALPK3	c.400C>T	NM_020778.5	NP_065829.4:p.(Arg134Cys)	NC_000015.9:g.85382306C>T	(Likely) benign	1 lab	382e88e3ec
11:119215359 C1QTNF5 C>T	11	119215359	119215359	C	T	C1QTNF5	c.-1756G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119215359C>T	(Likely) benign	1 lab	38358157ae
8:19796776 LPL T>TCC	8	19796776	19796781	T	TCC	LPL	c.-172_-171dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796780_19796781dup	(Likely) benign	1 lab	3839ded162
11:67223209 CABP4 C>T	11	67223209	67223209	C	T	CABP4	c.315C>T	NM_145200.5	NP_660201.1:p.(His105=)	NC_000011.9:g.67223209C>T	(Likely) benign	1 lab	383bcf73a7
21:40463715 MISSING C>Alt too long to show for this DUP	21	40463715	40747922	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.40463716_40747922dup	VUS	1 lab	383e022a39
17:34822463 MISSING Ref too long to show for this DEL>C	17	34822463	36307774	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.34822467_36307774del	(Likely) pathogenic	1 lab	3844bce670
3:178916890 PIK3CA C>T	3	178916890	178916890	C	T	PIK3CA	c.277C>T	NM_006218.4	NP_006209.2:p.(Arg93Trp)	NC_000003.11:g.178916890C>T	VUS	1 lab	384560f90c
3:132431953 NPHP3 A>AT	3	132431953	132431961	A	AT	NPHP3	c.1118+16dup	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132431961dup	(Likely) benign	1 lab	384701dff0
5:86686676 RASA1 T>C	5	86686676	86686676	T	C	RASA1	c.3120T>C	NM_002890.3	NP_002881.1:p.(Tyr1040=)	NC_000005.9:g.86686676T>C	(Likely) benign	1 lab	3849e8aa75
5:133942772 SAR1B G>T	5	133942772	133942772	G	T	SAR1B	c.481-16C>A	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133942772G>T	(Likely) benign	1 lab	384c027b21
X:30602726 MISSING G>Alt too long to show for this DUP	X	30602726	30892348	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.30602728_30892348dup	VUS	1 lab	38510dd4df
8:59404293 CYP7A1 G>T	8	59404293	59404293	G	T	CYP7A1	c.1256C>A	NM_000780.4	NP_000771.2:p.(Thr419Lys)	NC_000008.10:g.59404293G>T	VUS	1 lab	3856823df4
13:32911327 BRCA2 AGATTT>A	13	32911327	32911333	AGATTT	A	BRCA2	c.2837_2841del	NM_000059.4	NP_000050.3:p.(Asp946GlyfsTer11)	NC_000013.10:g.32911329_32911333del	(Likely) pathogenic	1 lab	3857844496
12:125284676 SCARB1 G>A	12	125284676	125284676	G	A	SCARB1	c.1122C>T	NM_001367981.1	NP_001354910.1:p.(Ile374=)	NC_000012.11:g.125284676G>A	(Likely) benign	1 lab	38593e60a5
12:56630976 SLC39A5 G>A	12	56630976	56630976	G	A	SLC39A5	c.1331G>A	NM_173596.3	NP_775867.2:p.(Arg444Gln)	NC_000012.11:g.56630976G>A	(Likely) benign	1 lab	385e954c97
18:7026085 LAMA1 G>A	18	7026085	7026085	G	A	LAMA1	c.2295C>T	NM_005559.4	NP_005550.2:p.(Thr765=)	NC_000018.9:g.7026085G>A	(Likely) benign	1 lab	386a04a3cd
9:27011917 IFT74 T>A	9	27011917	27011917	T	A	IFT74	c.740T>A	NM_001099222.3	NP_001092692.1:p.(Leu247His)	NC_000009.11:g.27011917T>A	(Likely) benign	1 lab	386ae04afd
21:47674751 MCM3AP G>A	21	47674751	47674751	G	A	MCM3AP	c.3940C>T	NM_003906.5	NP_003897.2:p.(Arg1314Trp)	NC_000021.8:g.47674751G>A	(Likely) benign	1 lab	386bc1d989
1:3328916 PRDM16 C>T	1	3328916	3328916	C	T	PRDM16	c.2155C>T	NM_022114.4	NP_071397.3:p.(Leu719Phe)	NC_000001.10:g.3328916C>T	VUS	1 lab	386c39709b
15:73617435 HCN4 G>A	15	73617435	73617435	G	A	HCN4	c.1839C>T	NM_005477.3	NP_005468.1:p.(Phe613=)	NC_000015.9:g.73617435G>A	(Likely) benign	1 lab	386fd6a99c
2:189867799 COL3A1 T>C	2	189867799	189867799	T	C	COL3A1	c.2553+11T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867799T>C	(Likely) benign	1 lab	387aaada4f
20:746197 SLC52A3 G>C	20	746197	746197	G	C	SLC52A3	c.222C>G	NM_033409.4	NP_212134.3:p.(Ile74Met)	NC_000020.10:g.746197G>C	(Likely) benign	1 lab	387b570ccc
12:66905796 GRIP1 Ref too long to show for this DEL>T	12	66905796	66922240	Ref too long to show for this DEL	T	GRIP1	c.502+1372_724+3602del	NM_001366722.1	NP_001353651.1:p.?	NC_000012.11:g.66905798_66922240del	VUS	1 lab	388016b95f
19:35372609 MISSING G>Alt too long to show for this DUP	19	35372609	35410222	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.35372610_35410222dup	VUS	1 lab	38887c95c1
9:107623653 ABCA1 T>A	9	107623653	107623653	T	A	ABCA1	c.543+307A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623653T>A	(Likely) benign	1 lab	3896e1eb1e
16:15917197 MYH11 G>A	16	15917197	15917197	G	A	MYH11	c.417C>T	NM_001040113.2	NP_001035202.1:p.(Val139=)	NC_000016.9:g.15917197G>A	(Likely) benign	1 lab	389b506c2c
5:133944108 SAR1B T>C	5	133944108	133944108	T	C	SAR1B	c.434A>G	NM_001033503.3	NP_001028675.1:p.(Glu145Gly)	NC_000005.9:g.133944108T>C	VUS	1 lab	389dc97e0a
1:161275897 MPZ C>A	1	161275897	161275897	C	A	MPZ	c.645+1G>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275897C>A	(Likely) pathogenic	1 lab	389fbe848c
3:30715614 TGFBR2 C>T	3	30715614	30715614	C	T	TGFBR2	c.1347C>T	NM_001024847.2	NP_001020018.1:p.(Tyr449=)	NC_000003.11:g.30715614C>T	(Likely) benign	1 lab	38a5db3348
15:40708484 IVD C>T	15	40708484	40708484	C	T	IVD	c.1066-5C>T	NM_002225.5	NP_002216.3:p.?	NC_000015.9:g.40708484C>T	(Likely) benign	1 lab	38b00eff40
1:78408410 NEXN C>T	1	78408410	78408410	C	T	NEXN	c.1924C>T	NM_144573.4	NP_653174.3:p.(Pro642Ser)	NC_000001.10:g.78408410C>T	VUS	1 lab	38b3ddc2a3
1:148343792 NBPF26 C>A	1	148343792	148343792	C	A	NBPF26	c.295G>T	NM_001351372.1	NP_001338301.1:p.(Val99Phe)	NC_000001.10:g.148343792C>A	(Likely) benign	1 lab	38b7cb2c2b
19:10941730 DNM2 A>AG	19	10941730	10941736	A	AG	DNM2	c.*13dup	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10941736dup	(Likely) benign	1 lab	38baafbd6d
10:75855448 VCL G>A	10	75855448	75855448	G	A	VCL	c.1578G>A	NM_014000.3	NP_054706.1:p.(Gly526=)	NC_000010.10:g.75855448G>A	(Likely) benign	1 lab	38c4b3266b
9:36246031 GNE G>C	9	36246031	36246031	G	C	GNE	c.706C>G	NM_001128227.3	NP_001121699.1:p.(Leu236Val)	NC_000009.11:g.36246031G>C	VUS	1 lab	38c4e9163f
16:58221573 MISSING T>Alt too long to show for this DUP	16	58221573	58247587	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.58221574_58247587dup	VUS	1 lab	38c62f1e45
11:108121412 ATM T>C	11	108121412	108121412	T	C	ATM	c.1236-16T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121412T>C	(Likely) benign	1 lab	38cb4d1062
2:183764779 MISSING C>Alt too long to show for this DUP	2	183764779	184093438	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.183764780_184093438dup	VUS	1 lab	38cb7fd9ae
22:50913215 SBF1 C>G	22	50913215	50913215	C	G	SBF1	c.55G>C	NM_002972.4	NP_002963.2:p.(Gly19Arg)	NC_000022.10:g.50913215C>G	VUS	1 lab	38cc882166
2:179453917 TTN C>T	2	179453917	179453917	C	T	TTN	c.62535G>A	NM_001267550.2	NP_001254479.2:p.(Thr20845=)	NC_000002.11:g.179453917C>T	(Likely) benign	1 lab	38da67e0d4
1:236891203 ACTN2 C>T	1	236891203	236891203	C	T	ACTN2	c.615+147C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236891203C>T	(Likely) benign	1 lab	38dc46dcc7
1:25893242 LDLRAP1 T>C	1	25893242	25893242	T	C	LDLRAP1	c.783-97T>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893242T>C	(Likely) benign	1 lab	38dd98c11b
12:58220816 CTDSP2 A>G	12	58220816	58220816	A	G	CTDSP2	c.317T>C	NM_005730.4	NP_005721.3:p.(Ile106Thr)	NC_000012.11:g.58220816A>G	(Likely) benign	1 lab	38e3a5913e
10:121436322 BAG3 A>AT	10	121436322	121436323	A	AT	BAG3	c.1257dup	NM_004281.4	NP_004272.2:p.(Pro420SerfsTer24)	NC_000010.10:g.121436323dup	(Likely) pathogenic	1 lab	38eb9012be
11:116772838 MISSING C>Alt too long to show for this DUP	11	116772838	117075876	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.116772839_117075876dup	VUS	1 lab	38ef049aaf
8:134254310 NDRG1 T>C	8	134254310	134254310	T	C	NDRG1	c.899A>G	NM_001135242.2	NP_001128714.1:p.(Lys300Arg)	NC_000008.10:g.134254310T>C	VUS	1 lab	38f45c3494
2:236990775 MISSING T>Alt too long to show for this DUP	2	236990775	237333125	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.236990778_237333125dup	VUS	1 lab	39048cdca3
3:37514864 ITGA9 C>G	3	37514864	37514864	C	G	ITGA9	c.333C>G	NM_002207.3	NP_002198.2:p.(Ser111=)	NC_000003.11:g.37514864C>G	(Likely) benign	1 lab	3904ff4c61
11:47357763 MYBPC3 G>A	11	47357763	47357763	G	A	MYBPC3	c.2603-201C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357763G>A	(Likely) benign	1 lab	39051593c4
1:3328270 PRDM16 G>A	1	3328270	3328270	G	A	PRDM16	c.1509G>A	NM_022114.4	NP_071397.3:p.(Ala503=)	NC_000001.10:g.3328270G>A	(Likely) benign	1 lab	3a138fbe1d
12:118198833 KSR2 G>C	12	118198833	118198833	G	C	KSR2	c.969C>G	NM_173598.6	NP_775869.4:p.(Asp323Glu)	NC_000012.11:g.118198833G>C	(Likely) benign	1 lab	390a0cc064
11:18318550 HPS5 C>A	11	18318550	18318550	C	A	HPS5	c.1324-19G>T	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18318550C>A	(Likely) benign	1 lab	390ac8131c
2:112740450 MERTK G>GT	2	112740450	112740453	G	GT	MERTK	c.1179dup	NM_006343.3	NP_006334.2:p.(Leu394SerfsTer3)	NC_000002.11:g.112740453dup	(Likely) pathogenic	1 lab	390e700c83
7:81599268 CACNA2D1 G>A	7	81599268	81599268	G	A	CACNA2D1	c.2237C>T	NM_000722.4	NP_000713.2:p.(Thr746Ile)	NC_000007.13:g.81599268G>A	VUS	1 lab	390fb43332
12:2760760 CACNA1C C>G	12	2760760	2760760	C	G	CACNA1C	c.3946-46C>G	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2760760C>G	(Likely) benign	1 lab	391253c164
9:34637416 SIGMAR1 C>T	9	34637416	34637416	C	T	SIGMAR1	c.153G>A	NM_001282208.2	NP_001269137.1:p.(Gly51=)	NC_000009.11:g.34637416C>T	(Likely) benign	1 lab	3918797135
19:11231181 LDLR T>C	19	11231181	11231181	T	C	LDLR	c.2123T>C	NM_000527.5	NP_000518.1:p.(Met708Thr)	NC_000019.9:g.11231181T>C	VUS	1 lab	391ea13dd6
17:12898347 ELAC2 GC>G	17	12898347	12898351	GC	G	ELAC2	c.1840del	NM_018127.7	NP_060597.4:p.(Ala614LeufsTer11)	NC_000017.10:g.12898351del	(Likely) pathogenic	1 lab	391ed0546e
14:94935839 SERPINA9 G>A	14	94935839	94935839	G	A	SERPINA9	c.339C>T	NM_175739.4	NP_783866.3:p.(Gly113=)	NC_000014.8:g.94935839G>A	(Likely) benign	1 lab	391fd22bac
2:179419734 TTN A>G	2	179419734	179419734	A	G	TTN	c.88452T>C	NM_001267550.2	NP_001254479.2:p.(Asn29484=)	NC_000002.11:g.179419734A>G	(Likely) benign	1 lab	39204b08d9
11:2549257 KCNQ1 C>T	11	2549257	2549257	C	T	KCNQ1	c.477+9C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2549257C>T	(Likely) benign	1 lab	39219c0c6f
12:133248791 POLE T>A	12	133248791	133248791	T	A	POLE	c.1794+10A>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133248791T>A	(Likely) benign	1 lab	39229e61f1
11:71725189 NUMA1 G>C	11	71725189	71725189	G	C	NUMA1	c.3360C>G	NM_001286561.2	NP_001273490.1:p.(Pro1120=)	NC_000011.9:g.71725189G>C	(Likely) benign	1 lab	39231674d9
18:19426931 MIB1 G>T	18	19426931	19426931	G	T	MIB1	c.2238G>T	NM_020774.4	NP_065825.1:p.(Gly746=)	NC_000018.9:g.19426931G>T	(Likely) benign	1 lab	39ee1aa515
2:21260379 APOB G>T	2	21260379	21260379	G	T	APOB	c.538-252C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260379G>T	(Likely) benign	1 lab	392b8ca0d1
5:108991467 MISSING Ref too long to show for this DEL>C	5	108991467	109965952	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.108991468_109965952del	VUS	1 lab	3934a2b7f8
12:48368648 COL2A1 G>T	12	48368648	48368648	G	T	COL2A1	c.3887-3C>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48368648G>T	VUS	1 lab	393a901669
22:20684247 MISSING Ref too long to show for this DEL>G	22	20684247	21522853	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.20684248_21522853del	(Likely) pathogenic	1 lab	3941ab5877
12:52886440 KRT6A A>T	12	52886440	52886440	A	T	KRT6A	c.533T>A	NM_005554.4	NP_005545.1:p.(Ile178Asn)	NC_000012.11:g.52886440A>T	(Likely) pathogenic	1 lab	396d654b7c
2:44101112 ABCG8 T>G	2	44101112	44101112	T	G	ABCG8	c.1398T>G	NM_022437.3	NP_071882.1:p.(Asp466Glu)	NC_000002.11:g.44101112T>G	VUS	1 lab	394878a03f
2:73717194 ALMS1 CG>C	2	73717194	73717195	CG	C	ALMS1	c.8112del	NM_015120.4	NP_055935.4:p.(Ser2705ProfsTer5)	NC_000002.11:g.73717195del	(Likely) pathogenic	1 lab	3952e071ff
11:1017381 MUC6 G>C	11	1017381	1017381	G	C	MUC6	c.5420C>G	NM_005961.3	NP_005952.2:p.(Thr1807Ser)	NC_000011.9:g.1017381G>C	(Likely) benign	1 lab	3955ae367a
X:30389942 MISSING Ref too long to show for this DEL>T	X	30389942	30705234	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.30389943_30705234del	(Likely) pathogenic	1 lab	395653f2a9
5:178418554 GRM6 A>AC	5	178418554	178418561	A	AC	GRM6	c.727dup	NM_000843.4	NP_000834.2:p.(Val243GlyfsTer40)	NC_000005.9:g.178418561dup	(Likely) pathogenic	1 lab	3960da8859
10:88441249 LDB3 G>A	10	88441249	88441249	G	A	LDB3	c.378G>A	NM_001171610.2	NP_001165081.1:p.(Ala126=)	NC_000010.10:g.88441249G>A	(Likely) benign	1 lab	396a108149
1:63069720 ANGPTL3 T>C	1	63069720	63069720	T	C	ANGPTL3	c.1012T>C	NM_014495.4	NP_055310.1:p.(Trp338Arg)	NC_000001.10:g.63069720T>C	VUS	1 lab	3970e0aa0c
1:196654377 CFH A>G	1	196654377	196654377	A	G	CFH	c.964+10A>G	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196654377A>G	(Likely) benign	1 lab	3970fd8af1
15:28202866 OCA2 A>G	15	28202866	28202866	A	G	OCA2	c.1652T>C	NM_000275.3	NP_000266.2:p.(Ile551Thr)	NC_000015.9:g.28202866A>G	VUS	1 lab	3975760fcb
17:48649327 CACNA1G C>T	17	48649327	48649327	C	T	CACNA1G	c.675C>T	NM_198377.3	NP_938191.2:p.(Phe225=)	NC_000017.10:g.48649327C>T	(Likely) benign	1 lab	397cb4a54d
5:61731969 IPO11 Ref too long to show for this DEL>T	5	61731969	61779907	Ref too long to show for this DEL	T	IPO11	c.-6-1129_1092del	NM_016338.5	NP_057422.3:p.?	NC_000005.9:g.61731972_61779907del	VUS	1 lab	397fe0c973
15:28234729 OCA2 G>A	15	28234729	28234729	G	A	OCA2	c.1182+18C>T	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28234729G>A	(Likely) benign	1 lab	39882dc4d8
15:67458037 SMAD3 C>T	15	67458037	67458037	C	T	SMAD3	c.532+315C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67458037C>T	(Likely) benign	1 lab	39898726a5
2:21236227 APOB T>C	2	21236227	21236227	T	C	APOB	c.4021A>G	NM_000384.3	NP_000375.3:p.(Thr1341Ala)	NC_000002.11:g.21236227T>C	VUS	1 lab	39f16dfbab
17:65629065 PITPNC1 Ref too long to show for this DEL>G	17	65629065	65667230	Ref too long to show for this DEL	G	PITPNC1	c.462+712_618+1451del	NM_012417.4	NP_036549.2:p.?	NC_000017.10:g.65629066_65667230del	VUS	1 lab	398b63af75
15:23889752 MAGEL2 C>T	15	23889752	23889752	C	T	MAGEL2	c.3138G>A	NM_019066.5	NP_061939.3:p.(Met1046Ile)	NC_000015.9:g.23889752C>T	(Likely) benign	1 lab	398b7c815b
8:144999621 PLEC C>T	8	144999621	144999621	C	T	PLEC	c.4887G>A	NM_201380.4	NP_958782.1:p.(Ala1629=)	NC_000008.10:g.144999621C>T	(Likely) benign	1 lab	398d7a9330
5:145531558 LARS1 A>T	5	145531558	145531558	A	T	LARS1	c.1292T>A	NM_020117.11	NP_064502.9:p.(Val431Asp)	NC_000005.9:g.145531558A>T	VUS	1 lab	39945edd01
1:55529093 PCSK9 C>G	1	55529093	55529093	C	G	PCSK9	c.1915C>G	NM_174936.4	NP_777596.2:p.(Pro639Ala)	NC_000001.10:g.55529093C>G	VUS	1 lab	3998e6609c
2:241702520 KIF1A C>T	2	241702520	241702520	C	T	KIF1A	c.1950-12G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241702520C>T	(Likely) benign	1 lab	3998f1867f
14:23886880 MYH7 C>T	14	23886880	23886880	C	T	MYH7	c.4185G>A	NM_000257.4	NP_000248.2:p.(Gln1395=)	NC_000014.8:g.23886880C>T	(Likely) benign	1 lab	39a36a3003
3:189712088 P3H2 CGGG>C	3	189712088	189712091	CGGG	C	P3H2	c.634-19_634-17del	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189712089_189712091del	(Likely) benign	1 lab	39a8b7d099
2:189917079 COL5A2 T>C	2	189917079	189917079	T	C	COL5A2	c.2716-128A>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189917079T>C	(Likely) benign	1 lab	39aca93b11
17:36485779 GPR179 G>T	17	36485779	36485779	G	T	GPR179	c.3673C>A	NM_001004334.4	NP_001004334.3:p.(Leu1225Met)	NC_000017.10:g.36485779G>T	VUS	1 lab	39b62f2668
6:112480085 LAMA4 A>G	6	112480085	112480085	A	G	LAMA4	c.1669-3T>C	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112480085A>G	(Likely) benign	1 lab	39b78611f3
2:189852289 COL3A1 T>C	2	189852289	189852289	T	C	COL3A1	c.528+424T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189852289T>C	(Likely) benign	1 lab	39b93979e4
16:50830362 CYLD G>A	16	50830362	50830362	G	A	CYLD	c.2814G>A	NM_015247.3	NP_056062.1:p.(Leu938=)	NC_000016.9:g.50830362G>A	(Likely) benign	1 lab	39bb1f5a15
7:73449589 ELN A>C	7	73449589	73449589	A	C	ELN	c.83-105A>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73449589A>C	(Likely) benign	1 lab	39bc62399f
2:179401241 TTN C>T	2	179401241	179401241	C	T	TTN	c.100233G>A	NM_001267550.2	NP_001254479.2:p.(Val33411=)	NC_000002.11:g.179401241C>T	(Likely) benign	1 lab	39c2326c50
18:46959851 DYM Ref too long to show for this DEL>G	18	46959851	46976025	Ref too long to show for this DEL	G	DYM	c.-54+10744_-53-3035del	NM_001353214.3	NP_001340143.1:p.?	NC_000018.9:g.46959853_46976025del	VUS	1 lab	39c453cce1
11:130157931 MISSING Ref too long to show for this DEL>A	11	130157931	134938470	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.130157932_134938470del	(Likely) pathogenic	1 lab	39cd68ba27
7:128491433 FLNC G>A	7	128491433	128491433	G	A	FLNC	c.5668+19G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491433G>A	(Likely) benign	1 lab	39cdd42883
3:38950615 SCN11A A>C	3	38950615	38950615	A	C	SCN11A	c.1172T>G	NM_001349253.2	NP_001336182.1:p.(Leu391Arg)	NC_000003.11:g.38950615A>C	VUS	1 lab	39d1f4b20f
19:11224331 LDLR T>A	19	11224331	11224331	T	A	LDLR	c.1479T>A	NM_000527.5	NP_000518.1:p.(Ser493=)	NC_000019.9:g.11224331T>A	(Likely) benign	1 lab	39d24dce2a
6:31760767 VARS1 C>A	6	31760767	31760767	C	A	VARS1	c.518G>T	NM_006295.3	NP_006286.1:p.(Arg173Leu)	NC_000006.11:g.31760767C>A	VUS	1 lab	39ddaa7ca5
2:179575489 TTN A>G	2	179575489	179575489	A	G	TTN	c.28335T>C	NM_001267550.2	NP_001254479.2:p.(Ile9445=)	NC_000002.11:g.179575489A>G	(Likely) benign	1 lab	39deb09821
10:73406448 CDH23 G>A	10	73406448	73406448	G	A	CDH23	c.1523G>A	NM_052836.4	NP_443068.1:p.(Cys508Tyr)	NC_000010.10:g.73406448G>A	(Likely) benign	1 lab	39e0c65e71
6:100898119 SIM1 G>A	6	100898119	100898119	G	A	SIM1	c.348+24C>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100898119G>A	(Likely) benign	1 lab	39e10f76c6
6:32012278 TNXB G>A	6	32012278	32012278	G	A	TNXB	c.11137C>T	NM_019105.8	NP_061978.6:p.(Arg3713Trp)	NC_000006.11:g.32012278G>A	VUS	1 lab	39e11c827a
16:28824593 MISSING Ref too long to show for this DEL>G	16	28824593	29044917	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28824594_29044917del	(Likely) pathogenic	1 lab	39e6ba6a52
15:31360213 TRPM1 A>G	15	31360213	31360213	A	G	TRPM1	c.413T>C	NM_001252020.2	NP_001238949.1:p.(Leu138Pro)	NC_000015.9:g.31360213A>G	(Likely) pathogenic	1 lab	39e8e1f9af
11:68157339 LRP5 T>G	11	68157339	68157339	T	G	LRP5	c.1413-10T>G	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68157339T>G	VUS	1 lab	39eacea957
2:21225615 APOB C>T	2	21225615	21225615	C	T	APOB	c.12679G>A	NM_000384.3	NP_000375.3:p.(Val4227Ile)	NC_000002.11:g.21225615C>T	VUS	1 lab	39ecece277
1:116247794 CASQ2 G>T	1	116247794	116247794	G	T	CASQ2	c.939+19C>A	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116247794G>T	(Likely) benign	1 lab	39f244eab8
2:21228414 APOB T>C	2	21228414	21228414	T	C	APOB	c.11326A>G	NM_000384.3	NP_000375.3:p.(Thr3776Ala)	NC_000002.11:g.21228414T>C	VUS	1 lab	39f3407a70
15:31362255 TRPM1 G>A	15	31362255	31362255	G	A	TRPM1	c.309C>T	NM_001252020.2	NP_001238949.1:p.(Gly103=)	NC_000015.9:g.31362255G>A	(Likely) benign	1 lab	39f9a4a376
X:70443646 GJB1 T>C	X	70443646	70443646	T	C	GJB1	c.89T>C	NM_000166.6	NP_000157.1:p.(Ile30Thr)	NC_000023.10:g.70443646T>C	(Likely) pathogenic	1 lab	39fbe223a3
1:236900597 ACTN2 G>GTATATATATATA	1	236900597	236900598	G	GTATATATATATA	ACTN2	c.876+83_876+84insTATATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATATA	(Likely) benign	1 lab	39fc0ec823
11:47361103 MYBPC3 G>GGTGCACATGTGGGTGGGGT	11	47361103	47361104	G	GGTGCACATGTGGGTGGGGT	MYBPC3	c.2067+98_2067+99insACCCCACCCACATGTGCAC	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361103_47361104insGTGCACATGTGGGTGGGGT	(Likely) benign	1 lab	39fd8ae5d3
6:56483852 DST T>G	6	56483852	56483852	T	G	DST	c.4980A>C	NM_001723.7	NP_001714.1:p.(Val1660=)	NC_000006.11:g.56483852T>G	(Likely) benign	1 lab	3a015510f1
11:47369780 MYBPC3 A>G	11	47369780	47369780	A	G	MYBPC3	c.772+195T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369780A>G	(Likely) benign	1 lab	3a06b430f4
2:44065680 ABCG5 C>A	2	44065680	44065680	C	A	ABCG5	c.139G>T	NM_022436.3	NP_071881.1:p.(Val47Phe)	NC_000002.11:g.44065680C>A	VUS	1 lab	3a0793eaa2
9:130397631 MISSING Ref too long to show for this DEL>G	9	130397631	130482140	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.130397632_130482140del	(Likely) pathogenic	1 lab	3a07d012e4
2:133840788 NCKAP5 Ref too long to show for this DEL>T	2	133840788	133970466	Ref too long to show for this DEL	T	NCKAP5	c.207+823_341+46761del	NM_207363.3	NP_997246.2:p.?	NC_000002.11:g.133840790_133970466del	(Likely) pathogenic	1 lab	3a10ea430d
11:119234663 USP2 C>G	11	119234663	119234663	C	G	USP2	c.43G>C	NM_171997.3	NP_741994.1:p.(Ala15Pro)	NC_000011.9:g.119234663C>G	(Likely) benign	1 lab	3a11f7f3a0
16:29819881 MAZ CCCT>C	16	29819881	29819888	CCCT	C	MAZ	c.1108-5_1108-3del	NM_001042539.3	NP_001036004.1:p.?	NC_000016.9:g.29819886_29819888del	(Likely) benign	1 lab	3a174fed0f
7:116371806 MET T>A	7	116371806	116371806	T	A	MET	c.1285T>A	NM_001127500.3	NP_001120972.1:p.(Leu429Ile)	NC_000007.13:g.116371806T>A	VUS	1 lab	3a1a2c0aa0
7:27147765 HOXA3 C>A	7	27147765	27147765	C	A	HOXA3	c.1101G>T	NM_153631.3	NP_705895.1:p.(Val367=)	NC_000007.13:g.27147765C>A	(Likely) benign	1 lab	3a1df191ae
11:76893434 MYO7A C>CCGCTCTGGCCTCTGACATGTGCGCTCTGGCCTCTGACATGCG	11	76893434	76893454	C	CCGCTCTGGCCTCTGACATGTGCGCTCTGGCCTCTGACATGCG	MYO7A	c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76893453_76893454insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG	(Likely) benign	1 lab	3a2208d876
20:57244409 STX16 G>T	20	57244409	57244409	G	T	STX16	c.456G>T	NM_001001433.3	NP_001001433.1:p.(Glu152Asp)	NC_000020.10:g.57244409G>T	(Likely) benign	1 lab	3a223735de
2:179631357 TTN T>TA	2	179631357	179631364	T	TA	TTN	c.9472-19dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179631364dup	(Likely) benign	1 lab	3a24d373f5
10:69954223 MYPN C>T	10	69954223	69954223	C	T	MYPN	c.3029C>T	NM_032578.4	NP_115967.2:p.(Thr1010Ile)	NC_000010.10:g.69954223C>T	VUS	1 lab	3a25ff5c24
9:107582258 ABCA1 T>C	9	107582258	107582258	T	C	ABCA1	c.3053A>G	NM_005502.4	NP_005493.2:p.(Asp1018Gly)	NC_000009.11:g.107582258T>C	VUS	1 lab	3a264f8d85
22:29886341 NEFH C>T	22	29886341	29886341	C	T	NEFH	c.2712C>T	NM_021076.4	NP_066554.2:p.(Pro904=)	NC_000022.10:g.29886341C>T	(Likely) benign	1 lab	3a3110d3bf
18:58039021 MC4R A>T	18	58039021	58039021	A	T	MC4R	c.562T>A	NM_005912.3	NP_005903.2:p.(Ser188Thr)	NC_000018.9:g.58039021A>T	VUS	1 lab	3a37779b59
X:70443634 GJB1 C>T	X	70443634	70443634	C	T	GJB1	c.77C>T	NM_000166.6	NP_000157.1:p.(Ser26Leu)	NC_000023.10:g.70443634C>T	(Likely) pathogenic	1 lab	3a3be4ded7
6:100895166 SIM1 C>A	6	100895166	100895166	C	A	SIM1	c.976G>T	NM_005068.3	NP_005059.2:p.(Val326Phe)	NC_000006.11:g.100895166C>A	VUS	1 lab	3a3e2b0870
15:43122225 TTBK2 T>C	15	43122225	43122225	T	C	TTBK2	c.343A>G	NM_173500.4	NP_775771.3:p.(Ile115Val)	NC_000015.9:g.43122225T>C	VUS	1 lab	3a466839cd
7:128478762 FLNC C>T	7	128478762	128478762	C	T	FLNC	c.1316C>T	NM_001458.5	NP_001449.3:p.(Thr439Ile)	NC_000007.13:g.128478762C>T	VUS	1 lab	3a4a517b26
1:86577195 COL24A1 Ref too long to show for this DEL>G	1	86577195	86603942	Ref too long to show for this DEL	G	COL24A1	c.121+7861_1599+1054del	NM_152890.7	NP_690850.2:p.?	NC_000001.10:g.86577197_86603942del	VUS	1 lab	3a4f628911
18:10797362 PIEZO2 T>G	18	10797362	10797362	T	G	PIEZO2	c.1527+10A>C	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10797362T>G	(Likely) benign	1 lab	3a4f662882
2:219678838 CYP27A1 C>T	2	219678838	219678838	C	T	CYP27A1	c.1112C>T	NM_000784.4	NP_000775.1:p.(Ala371Val)	NC_000002.11:g.219678838C>T	(Likely) benign	1 lab	3a513ce557
1:103544379 COL11A1 T>C	1	103544379	103544379	T	C	COL11A1	c.323A>G	NM_080629.3	NP_542196.2:p.(Lys108Arg)	NC_000001.10:g.103544379T>C	(Likely) benign	1 lab	3a55813a40
6:112512860 LAMA4 G>A	6	112512860	112512860	G	A	LAMA4	c.696C>T	NM_001105206.3	NP_001098676.2:p.(Ala232=)	NC_000006.11:g.112512860G>A	(Likely) benign	1 lab	3a5a7dd60b
7:591102 PRKAR1B G>A	7	591102	591102	G	A	PRKAR1B	c.897C>T	NM_001164761.2	NP_001158233.1:p.(Thr299=)	NC_000007.13:g.591102G>A	(Likely) benign	1 lab	3a5ad0e1ab
19:7607956 PNPLA6 C>T	19	7607956	7607956	C	T	PNPLA6	c.1621C>T	NM_001166111.2	NP_001159583.1:p.(Arg541Cys)	NC_000019.9:g.7607956C>T	VUS	1 lab	3a5eeed343
20:34061185 CEP250 C>T	20	34061185	34061185	C	T	CEP250	c.1210-14C>T	NM_007186.6	NP_009117.2:p.?	NC_000020.10:g.34061185C>T	(Likely) benign	1 lab	3a60331e5a
1:110153103 GNAT2 T>C	1	110153103	110153103	T	C	GNAT2	c.145A>G	NM_005272.5	NP_005263.1:p.(Ile49Val)	NC_000001.10:g.110153103T>C	(Likely) benign	1 lab	3a69dafde3
1:197396746 CRB1 G>A	1	197396746	197396746	G	A	CRB1	c.2084G>A	NM_001257965.2	NP_001244894.1:p.(Arg695His)	NC_000001.10:g.197396746G>A	(Likely) pathogenic	1 lab	3a6fd6c3aa
22:50461040 MISSING G>Alt too long to show for this DUP	22	50461040	50618281	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.50461041_50618281dup	VUS	1 lab	3a74996d84
10:73552960 CDH23 C>T	10	73552960	73552960	C	T	CDH23	c.6275C>T	NM_022124.6	NP_071407.4:p.(Thr2092Ile)	NC_000010.10:g.73552960C>T	(Likely) benign	1 lab	3a7a538eac
13:32913607 BRCA2 A>G	13	32913607	32913607	A	G	BRCA2	c.5115A>G	NM_000059.4	NP_000050.3:p.(Ile1705Met)	NC_000013.10:g.32913607A>G	(Likely) benign	1 lab	3a7e3ab0ae
7:128470680 FLNC G>T	7	128470680	128470680	G	T	FLNC	c.-12G>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128470680G>T	(Likely) benign	1 lab	3a7f07ef90
8:100871686 VPS13B G>A	8	100871686	100871686	G	A	VPS13B	c.11097G>A	NM_017890.5	NP_060360.3:p.(Ser3699=)	NC_000008.10:g.100871686G>A	(Likely) benign	1 lab	3a823c2a41
11:47359487 MYBPC3 T>C	11	47359487	47359487	T	C	MYBPC3	c.2309-142A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359487T>C	(Likely) benign	1 lab	3a8648b784
6:117113761 GPRC6A A>AGG	6	117113761	117113762	A	AGG	GPRC6A	c.2324_2325insCC	NM_148963.4	NP_683766.2:p.(Glu776LeufsTer19)	NC_000006.11:g.117113761_117113762insGG	(Likely) benign	1 lab	3a87bec9f5
16:929650 LMF1 T>G	16	929650	929650	T	G	LMF1	c.418A>C	NM_001352018.2	NP_001338947.1:p.(Ile140Leu)	NC_000016.9:g.929650T>G	VUS	1 lab	3a8913b4a8
6:32012854 TNXB G>C	6	32012854	32012854	G	C	TNXB	c.10850C>G	NM_019105.8	NP_061978.6:p.(Pro3617Arg)	NC_000006.11:g.32012854G>C	(Likely) benign	1 lab	3a8a61b342
14:23894113 MYH7 C>G	14	23894113	23894113	C	G	MYH7	c.2544G>C	NM_000257.4	NP_000248.2:p.(Glu848Asp)	NC_000014.8:g.23894113C>G	VUS	1 lab	3a92e67a88
18:47088745 LIPG G>A	18	47088745	47088745	G	A	LIPG	c.67G>A	NM_006033.4	NP_006024.1:p.(Val23Ile)	NC_000018.9:g.47088745G>A	VUS	1 lab	3a933037d2
18:47108786 LIPG T>C	18	47108786	47108786	T	C	LIPG	c.1091T>C	NM_006033.4	NP_006024.1:p.(Ile364Thr)	NC_000018.9:g.47108786T>C	VUS	1 lab	3a9d5f81f9
6:56468983 DST C>T	6	56468983	56468983	C	T	DST	c.10443G>A	NM_001374736.1	NP_001361665.1:p.(Thr3481=)	NC_000006.11:g.56468983C>T	(Likely) benign	1 lab	3aa3e38a6a
1:222832825 MIA3 A>G	1	222832825	222832825	A	G	MIA3	c.4740A>G	NM_198551.4	NP_940953.2:p.(Leu1580=)	NC_000001.10:g.222832825A>G	(Likely) benign	1 lab	3aa6db1aa3
10:69366789 CTNNA3 A>C	10	69366789	69366789	A	C	CTNNA3	c.118T>G	NM_013266.4	NP_037398.2:p.(Cys40Gly)	NC_000010.10:g.69366789A>C	VUS	1 lab	3aab6cec26
5:148421064 SH3TC2 C>T	5	148421064	148421064	C	T	SH3TC2	c.646G>A	NM_024577.4	NP_078853.2:p.(Glu216Lys)	NC_000005.9:g.148421064C>T	VUS	1 lab	3aaf26885a
2:21251243 APOB G>C	2	21251243	21251243	G	C	APOB	c.1785C>G	NM_000384.3	NP_000375.3:p.(Ser595=)	NC_000002.11:g.21251243G>C	(Likely) benign	1 lab	3ab94a753e
8:144695095 GFUS C>T	8	144695095	144695095	C	T	GFUS	c.969G>A	NM_001317783.2	NP_001304712.1:p.(Glu323=)	NC_000008.10:g.144695095C>T	(Likely) benign	1 lab	3abab5307f
6:169622325 THBS2 G>A	6	169622325	169622325	G	A	THBS2	c.3240C>T	NM_003247.5	NP_003238.2:p.(Asn1080=)	NC_000006.11:g.169622325G>A	(Likely) benign	1 lab	3abfbe581c
20:42815722 JPH2 G>A	20	42815722	42815722	G	A	JPH2	c.-377C>T	NM_020433.5	NP_065166.2:p.?	NC_000020.10:g.42815722G>A	(Likely) benign	1 lab	3ac5b76122
X:153219179 HCFC1 G>A	X	153219179	153219179	G	A	HCFC1	c.4376C>T	NM_005334.3	NP_005325.2:p.(Thr1459Ile)	NC_000023.10:g.153219179G>A	VUS	1 lab	3ac6a37cdd
5:58652602 PDE4D C>T	5	58652602	58652602	C	T	PDE4D	c.71G>A	NM_001197219.2	NP_001184148.1:p.(Arg24His)	NC_000005.9:g.58652602C>T	(Likely) benign	1 lab	3ac92e5096
12:13029069 MISSING C>CAAA	12	13029069	13029091	C	CAAA	MISSING				NC_000012.11:g.13029089_13029091dup	(Likely) benign	1 lab	3aca1cd49b
X:119573135 LAMP2 C>T	X	119573135	119573135	C	T	LAMP2	c.1107G>A	NM_013995.2	NP_054701.1:p.(Ser369=)	NC_000023.10:g.119573135C>T	(Likely) benign	1 lab	3acc93804b
4:119234368 PRSS12 T>G	4	119234368	119234368	T	G	PRSS12	c.1477A>C	NM_003619.4	NP_003610.2:p.(Arg493=)	NC_000004.11:g.119234368T>G	(Likely) benign	1 lab	3ad3f2ab02
3:38888878 SCN11A C>G	3	38888878	38888878	C	G	SCN11A	c.4683G>C	NM_014139.3	NP_054858.2:p.(Leu1561=)	NC_000003.11:g.38888878C>G	(Likely) benign	1 lab	3ad43c4c89
10:28906659 WAC A>AT	10	28906659	28906662	A	AT	WAC	c.1823dup	NM_016628.5	NP_057712.2:p.(Leu608PhefsTer9)	NC_000010.10:g.28906662dup	(Likely) pathogenic	1 lab	3ad7cbc256
10:73569629 CDH23 C>T	10	73569629	73569629	C	T	CDH23	c.8775C>T	NM_022124.6	NP_071407.4:p.(Pro2925=)	NC_000010.10:g.73569629C>T	(Likely) benign	1 lab	3ada586a6f
1:236900597 ACTN2 GCATATATATA>G	1	236900597	236900607	GCATATATATA	G	ACTN2	c.876+84_876+93del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900598_236900607del	(Likely) benign	1 lab	3ae706536e
14:76437338 TGFB3 T>C	14	76437338	76437338	T	C	TGFB3	c.646+131A>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76437338T>C	(Likely) benign	1 lab	3aedebfe09
13:32930678 BRCA2 A>G	13	32930678	32930678	A	G	BRCA2	c.7549A>G	NM_000059.4	NP_000050.3:p.(Thr2517Ala)	NC_000013.10:g.32930678A>G	VUS	1 lab	3af105fd67
11:2181150 INS G>A	11	2181150	2181150	G	A	INS	c.265C>T	NM_001185098.2	NP_001172027.1:p.(Arg89Cys)	NC_000011.9:g.2181150G>A	(Likely) pathogenic	1 lab	3af16090f0
14:76173384 TTLL5 G>C	14	76173384	76173384	G	C	TTLL5	c.609G>C	NM_015072.5	NP_055887.3:p.(Glu203Asp)	NC_000014.8:g.76173384G>C	(Likely) benign	1 lab	3af43c2c51
15:73023797 BBS4 C>T	15	73023797	73023797	C	T	BBS4	c.863C>T	NM_033028.5	NP_149017.2:p.(Ala288Val)	NC_000015.9:g.73023797C>T	VUS	1 lab	3af48946e6
2:233748830 NGEF G>A	2	233748830	233748830	G	A	NGEF	c.1462C>T	NM_019850.3	NP_062824.2:p.(Arg488Cys)	NC_000002.11:g.233748830G>A	VUS	1 lab	3af58c7c9e
17:48263320 COL1A1 C>T	17	48263320	48263320	C	T	COL1A1	c.4067G>A	NM_000088.4	NP_000079.2:p.(Arg1356His)	NC_000017.10:g.48263320C>T	VUS	1 lab	3b04bf3648
16:929705 LMF1 G>A	16	929705	929705	G	A	LMF1	c.363C>T	NM_001352018.2	NP_001338947.1:p.(Tyr121=)	NC_000016.9:g.929705G>A	(Likely) benign	1 lab	3b058ea141
1:236890869 ACTN2 C>T	1	236890869	236890869	C	T	ACTN2	c.537-109C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236890869C>T	(Likely) benign	1 lab	3b0ceea8b3
9:19167271 MISSING Ref too long to show for this DEL>C	9	19167271	19272020	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.19167274_19272020del	VUS	1 lab	3b0d5754b2
2:238283510 COL6A3 C>T	2	238283510	238283510	C	T	COL6A3	c.3224G>A	NM_004369.4	NP_004360.2:p.(Arg1075Gln)	NC_000002.11:g.238283510C>T	VUS	1 lab	3b122d1f58
2:179477525 TTN GTCACTGGGT>G	2	179477525	179477548	GTCACTGGGT	G	TTN	c.49914_49922del	NM_001267550.2	NP_001254479.2:p.(Glu16638_Ser16640del)	NC_000002.11:g.179477540_179477548del	VUS	1 lab	3b12adcf69
14:91776235 CCDC88C C>G	14	91776235	91776235	C	G	CCDC88C	c.2832G>C	NM_001080414.4	NP_001073883.2:p.(Leu944=)	NC_000014.8:g.91776235C>G	(Likely) benign	1 lab	3b133b1478
X:70443600 GJB1 C>T	X	70443600	70443600	C	T	GJB1	c.43C>T	NM_000166.6	NP_000157.1:p.(Arg15Trp)	NC_000023.10:g.70443600C>T	(Likely) pathogenic	1 lab	3b140c9878
2:179484360 TTN G>C	2	179484360	179484360	G	C	TTN	c.46684C>G	NM_001267550.2	NP_001254479.2:p.(Leu15562Val)	NC_000002.11:g.179484360G>C	VUS	1 lab	3b169d8c49
2:44047095 ABCG5 C>G	2	44047095	44047095	C	G	ABCG5	c.1608G>C	NM_022436.3	NP_071881.1:p.(Leu536=)	NC_000002.11:g.44047095C>G	(Likely) benign	1 lab	3b1c8e32cd
16:1005056 LMF1 C>T	16	1005056	1005056	C	T	LMF1	c.-361-390G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005056C>T	(Likely) benign	1 lab	3b1d9f6457
14:76446869 TGFB3 G>A	14	76446869	76446869	G	A	TGFB3	c.352+16C>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76446869G>A	(Likely) benign	1 lab	3b1f521e64
7:143079962 ZYX A>T	7	143079962	143079962	A	T	ZYX	c.570A>T	NM_003461.5	NP_003452.1:p.(Ala190=)	NC_000007.13:g.143079962A>T	(Likely) benign	1 lab	3b20a293ae
5:161309696 GABRA1 A>G	5	161309696	161309696	A	G	GABRA1	c.692A>G	NM_001127644.2	NP_001121116.1:p.(Gln231Arg)	NC_000005.9:g.161309696A>G	VUS	1 lab	3b21e03931
6:111694395 REV3L A>G	6	111694395	111694395	A	G	REV3L	c.4929T>C	NM_001286431.2	NP_001273360.1:p.(Gly1643=)	NC_000006.11:g.111694395A>G	(Likely) benign	1 lab	3b26c33ba8
4:74276026 ALB T>C	4	74276026	74276026	T	C	ALB	c.616-3T>C	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74276026T>C	(Likely) benign	1 lab	3b29348a40
11:116706579 APOA1 T>C	11	116706579	116706579	T	C	APOA1	c.422A>G	NM_001318021.1	NP_001304950.1:p.(Lys141Arg)	NC_000011.9:g.116706579T>C	VUS	1 lab	3b29a79325
2:182413597 CERKL A>G	2	182413597	182413597	A	G	CERKL	c.974-13T>C	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182413597A>G	VUS	1 lab	3b2a77d246
2:124609429 MISSING Ref too long to show for this DEL>A	2	124609429	126469601	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.124609431_126469601del	VUS	1 lab	3b2cf443bf
2:219677329 CYP27A1 C>T	2	219677329	219677329	C	T	CYP27A1	c.701C>T	NM_000784.4	NP_000775.1:p.(Pro234Leu)	NC_000002.11:g.219677329C>T	VUS	1 lab	3b30123719
12:125270862 SCARB1 G>A	12	125270862	125270862	G	A	SCARB1	c.1442C>T	NM_001367981.1	NP_001354910.1:p.(Ser481Leu)	NC_000012.11:g.125270862G>A	(Likely) benign	1 lab	3b33f99def
3:151463832 AADACL2 Ref too long to show for this DEL>G	3	151463832	151476180	Ref too long to show for this DEL	G	AADACL2	c.603+366_*798del	NM_207365.4	NP_997248.2:p.?	NC_000003.11:g.151463834_151476180del	VUS	1 lab	3b36cf215a
2:179599086 TTN C>A	2	179599086	179599086	C	A	TTN	c.15465G>T	NM_001267550.2	NP_001254479.2:p.(Lys5155Asn)	NC_000002.11:g.179599086C>A	VUS	1 lab	3b370441df
18:25616462 CDH2 G>A	18	25616462	25616462	G	A	CDH2	c.51C>T	NM_001308176.2	NP_001295105.1:p.(Asn17=)	NC_000018.9:g.25616462G>A	(Likely) benign	1 lab	3b3b17aa61
1:214557048 PTPN14 GCCT>G	1	214557048	214557067	GCCT	G	PTPN14	c.2147_2149del	NM_005401.5	NP_005392.2:p.(Glu716del)	NC_000001.10:g.214557065_214557067del	(Likely) benign	1 lab	3b3d34d894
17:20770003 CCDC144NL C>G	17	20770003	20770003	C	G	CCDC144NL	n.572G>C	NR_164128.1		NC_000017.10:g.20770003C>G	(Likely) benign	1 lab	3b461fd5e2
4:6303104 WFS1 T>G	4	6303104	6303104	T	G	WFS1	c.1582T>G	NM_006005.3	NP_005996.2:p.(Tyr528Asp)	NC_000004.11:g.6303104T>G	VUS	1 lab	3b4e87f544
8:17942284 ASAH1 C>G	8	17942284	17942284	C	G	ASAH1	c.27G>C	NM_004315.6	NP_004306.3:p.(Glu9Asp)	NC_000008.10:g.17942284C>G	VUS	1 lab	3b4fb8482c
9:79955331 VPS13A T>TATAG	9	79955331	79955336	T	TATAG	VPS13A	c.6893_6896dup	NM_033305.3	NP_150648.2:p.(Leu2300ArgfsTer6)	NC_000009.11:g.79955333_79955336dup	(Likely) pathogenic	1 lab	3b50c43d7d
16:30723630 SRCAP C>T	16	30723630	30723630	C	T	SRCAP	c.1863C>T	NM_006662.3	NP_006653.2:p.(Tyr621=)	NC_000016.9:g.30723630C>T	(Likely) benign	1 lab	3b5deb20d3
2:179587016 TTN C>CTGTTGTTCCAAGTGGGTTGGATGCTGA	2	179587016	179587021	C	CTGTTGTTCCAAGTGGGTTGGATGCTGA	TTN	c.22497_22498insTCAGCATCCAACCCACTTGGAACAACA	NM_001267550.2	NP_001254479.2:p.(Thr7499_Ala7500insSerAlaSerAsnProLeuGlyThrThr)	NC_000002.11:g.179587020_179587021insGTTCCAAGTGGGTTGGATGCTGATGTT	VUS	1 lab	3b5ee876c8
22:25024166 GGT1 T>C	22	25024166	25024166	T	C	GGT1	c.1449+6T>C	NM_001288833.2	NP_001275762.1:p.?	NC_000022.10:g.25024166T>C	(Likely) benign	1 lab	3b64c0f9cf
5:112602928 MCC Ref too long to show for this DEL>G	5	112602928	112730472	Ref too long to show for this DEL	G	MCC	c.171-9562_627+73287del	NM_001085377.2	NP_001078846.2:p.?	NC_000005.9:g.112602930_112730472del	VUS	1 lab	3b76398363
22:33255296 TIMP3 G>A	22	33255296	33255296	G	A	TIMP3	c.568G>A	NM_000362.5	NP_000353.1:p.(Gly190Ser)	NC_000022.10:g.33255296G>A	VUS	1 lab	3b79f86da5
16:67976884 LCAT G>C	16	67976884	67976884	G	C	LCAT	c.312-5C>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976884G>C	(Likely) benign	1 lab	3b7c85db11
14:23867989 MYH6 G>C	14	23867989	23867989	G	C	MYH6	c.1839C>G	NM_002471.4	NP_002462.2:p.(Ser613=)	NC_000014.8:g.23867989G>C	(Likely) benign	1 lab	3b7d28d04e
X:19207839 MISSING C>Alt too long to show for this DUP	X	19207839	19504997	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.19207840_19504997dup	VUS	1 lab	3b82c0ada9
5:138160435 CTNNA1 C>G	5	138160435	138160435	C	G	CTNNA1	c.805C>G	NM_001903.5	NP_001894.2:p.(Gln269Glu)	NC_000005.9:g.138160435C>G	VUS	1 lab	3b86bc7881
14:102476187 DYNC1H1 C>T	14	102476187	102476187	C	T	DYNC1H1	c.5985C>T	NM_001376.5	NP_001367.2:p.(Ala1995=)	NC_000014.8:g.102476187C>T	(Likely) benign	1 lab	3b88b4fd7d
2:152473986 NEB CAA>C	2	152473986	152474002	CAA	C	NEB	c.11077-6_11077-5del	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152474001_152474002del	(Likely) benign	1 lab	3b8a4ae084
X:41000578 USP9X T>C	X	41000578	41000578	T	C	USP9X	c.1055T>C	NM_001039590.3	NP_001034679.2:p.(Met352Thr)	NC_000023.10:g.41000578T>C	VUS	1 lab	3b8b3457d3
14:100766233 MISSING Ref too long to show for this DEL>C	14	100766233	102894671	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.100766234_102894671del	(Likely) pathogenic	1 lab	3b8c7d8abf
14:23874434 MYH6 G>A	14	23874434	23874434	G	A	MYH6	c.500C>T	NM_002471.4	NP_002462.2:p.(Thr167Ile)	NC_000014.8:g.23874434G>A	VUS	1 lab	3b9dbfb1c7
4:128808556 PLK4 A>G	4	128808556	128808556	A	G	PLK4	c.1364A>G	NM_014264.5	NP_055079.3:p.(Asn455Ser)	NC_000004.11:g.128808556A>G	(Likely) benign	1 lab	3b9de2b22e
20:62630980 PRPF6 C>T	20	62630980	62630980	C	T	PRPF6	c.891C>T	NM_012469.4	NP_036601.2:p.(Leu297=)	NC_000020.10:g.62630980C>T	(Likely) benign	1 lab	3ba0a73c44
15:73660092 HCN4 G>A	15	73660092	73660092	G	A	HCN4	c.520C>T	NM_005477.3	NP_005468.1:p.(Pro174Ser)	NC_000015.9:g.73660092G>A	VUS	1 lab	3bb3349eb9
20:14587502 MACROD2 Ref too long to show for this DEL>C	20	14587502	14677087	Ref too long to show for this DEL	C	MACROD2	c.302-77986_418+11482del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14587503_14677087del	VUS	1 lab	3bb83632e8
3:32201154 GPD1L G>A	3	32201154	32201154	G	A	GPD1L	c.947G>A	NM_015141.4	NP_055956.1:p.(Gly316Glu)	NC_000003.11:g.32201154G>A	VUS	1 lab	3bbbcf9087
2:179460308 TTN A>G	2	179460308	179460308	A	G	TTN	c.57773T>C	NM_001267550.2	NP_001254479.2:p.(Ile19258Thr)	NC_000002.11:g.179460308A>G	VUS	1 lab	3bbcc897ea
16:2506862 CCNF G>A	16	2506862	2506862	G	A	CCNF	c.2202G>A	NM_001761.3	NP_001752.2:p.(Ser734=)	NC_000016.9:g.2506862G>A	(Likely) benign	1 lab	3bc095a9d3
17:57663596 DHX40 TAA>T	17	57663596	57663614	TAA	T	DHX40	c.1424+19_1424+20del	NM_024612.5	NP_078888.4:p.?	NC_000017.10:g.57663613_57663614del	(Likely) benign	1 lab	3bc45d2a7b
17:15142895 PMP22 A>G	17	15142895	15142895	A	G	PMP22	c.212T>C	NM_000304.4	NP_000295.1:p.(Leu71Pro)	NC_000017.10:g.15142895A>G	(Likely) pathogenic	1 lab	3bc49d6d85
19:50774770 MYH14 G>C	19	50774770	50774770	G	C	MYH14	c.3015G>C	NM_024729.4	NP_079005.3:p.(Leu1005=)	NC_000019.9:g.50774770G>C	(Likely) benign	1 lab	3bc569dd32
2:21231229 APOB C>T	2	21231229	21231229	C	T	APOB	c.8511G>A	NM_000384.3	NP_000375.3:p.(Thr2837=)	NC_000002.11:g.21231229C>T	(Likely) benign	1 lab	3bc5aa801e
X:21875520 YY2 C>T	X	21875520	21875520	C	T	YY2	c.918C>T	NM_206923.4	NP_996806.2:p.(Thr306=)	NC_000023.10:g.21875520C>T	(Likely) benign	1 lab	3bc7aca7fb
11:85365088 TMEM126A T>G	11	85365088	85365088	T	G	TMEM126A	c.87-19T>G	NM_032273.4	NP_115649.1:p.?	NC_000011.9:g.85365088T>G	(Likely) benign	1 lab	3bcb233962
2:27677212 IFT172 G>T	2	27677212	27677212	G	T	IFT172	c.3530+9C>A	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27677212G>T	(Likely) benign	1 lab	3bd09e8161
19:55481486 NLRP2 C>T	19	55481486	55481486	C	T	NLRP2	c.103C>T	NM_017852.5	NP_060322.1:p.(Leu35=)	NC_000019.9:g.55481486C>T	(Likely) benign	1 lab	3bd190e4db
14:76509568 MISSING C>Alt too long to show for this DUP	14	76509568	76650535	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.76509569_76650535dup	VUS	1 lab	3bd2013629
9:20739881 FOCAD Ref too long to show for this DEL>T	9	20739881	20843841	Ref too long to show for this DEL	T	FOCAD	c.288-353_1921-18736del	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20739882_20843841del	VUS	1 lab	3bd4055d02
3:128471823 MISSING T>Alt too long to show for this DUP	3	128471823	128710382	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.128471824_128710382dup	VUS	1 lab	3bd5af75a5
19:11224000 LDLR G>C	19	11224000	11224000	G	C	LDLR	c.1233G>C	NM_000527.5	NP_000518.1:p.(Lys411Asn)	NC_000019.9:g.11224000G>C	VUS	1 lab	3bd5b3355f
7:94034449 COL1A2 T>TC	7	94034449	94034454	T	TC	COL1A2	c.433-57dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94034454dup	(Likely) benign	1 lab	3bd98101c4
2:179401773 TTN T>C	2	179401773	179401773	T	C	TTN	c.100063A>G	NM_001267550.2	NP_001254479.2:p.(Asn33355Asp)	NC_000002.11:g.179401773T>C	VUS	1 lab	3bdd7b9dfb
3:172424951 MISSING A>Alt too long to show for this DUP	3	172424951	172560273	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.172424953_172560273dup	VUS	1 lab	3be06a7b00
9:113234507 SVEP1 T>C	9	113234507	113234507	T	C	SVEP1	c.2696A>G	NM_153366.4	NP_699197.3:p.(Lys899Arg)	NC_000009.11:g.113234507T>C	(Likely) benign	1 lab	3be3062c7e
6:16143864 MYLIP A>G	6	16143864	16143864	A	G	MYLIP	c.663-66A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16143864A>G	(Likely) benign	1 lab	3be56f6a27
8:19819737 LPL A>C	8	19819737	19819737	A	C	LPL	c.1427+7A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819737A>C	(Likely) benign	1 lab	3be5a7d200
7:128480715 FLNC G>A	7	128480715	128480715	G	A	FLNC	c.1663G>A	NM_001458.5	NP_001449.3:p.(Ala555Thr)	NC_000007.13:g.128480715G>A	VUS	1 lab	3be6e4d98c
11:129805107 PRDM10 C>T	11	129805107	129805107	C	T	PRDM10	c.1046G>A	NM_020228.3	NP_064613.2:p.(Arg349Gln)	NC_000011.9:g.129805107C>T	VUS	1 lab	3be8c9993b
11:1457347 BRSK2 G>C	11	1457347	1457347	G	C	BRSK2	c.169G>C	NM_001256627.2	NP_001243556.1:p.(Glu57Gln)	NC_000011.9:g.1457347G>C	VUS	1 lab	3c3961ab3f
10:112580824 RBM20 T>G	10	112580824	112580824	T	G	RBM20	c.2656-209T>G	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112580824T>G	(Likely) benign	1 lab	3be8e21996
7:100858450 PLOD3 G>A	7	100858450	100858450	G	A	PLOD3	c.616-17C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100858450G>A	(Likely) benign	1 lab	3beb3ebdab
16:919892 LMF1 C>T	16	919892	919892	C	T	LMF1	c.1407G>A	NM_022773.4	NP_073610.2:p.(Ala469=)	NC_000016.9:g.919892C>T	(Likely) benign	1 lab	3bed6817f4
11:6567962 DNHD1 G>A	11	6567962	6567962	G	A	DNHD1	c.5793G>A	NM_144666.3	NP_653267.2:p.(Leu1931=)	NC_000011.9:g.6567962G>A	(Likely) benign	1 lab	3bef53d25f
18:77478011 CTDP1 C>T	18	77478011	77478011	C	T	CTDP1	c.2412C>T	NM_004715.5	NP_004706.3:p.(Ser804=)	NC_000018.9:g.77478011C>T	(Likely) benign	1 lab	3bf0cc9d66
21:35821733 KCNE1 C>T	21	35821733	35821733	C	T	KCNE1	c.200G>A	NM_000219.6	NP_000210.2:p.(Arg67His)	NC_000021.8:g.35821733C>T	VUS	1 lab	3bf11bcbd9
7:128488920 FLNC C>T	7	128488920	128488920	C	T	FLNC	c.4811C>T	NM_001458.5	NP_001449.3:p.(Pro1604Leu)	NC_000007.13:g.128488920C>T	VUS	1 lab	3c08d974b3
5:82779419 VCAN A>G	5	82779419	82779419	A	G	VCAN	c.70+12A>G	NM_004385.5	NP_004376.2:p.?	NC_000005.9:g.82779419A>G	(Likely) benign	1 lab	3c092788d1
X:48771835 PIM2 G>A	X	48771835	48771835	G	A	PIM2	c.609C>T	NM_006875.4	NP_006866.2:p.(Tyr203=)	NC_000023.10:g.48771835G>A	(Likely) benign	1 lab	3c0b48cc53
12:125270631 SCARB1 G>C	12	125270631	125270631	G	C	SCARB1	c.*11C>G	NM_001367982.1	NP_001354911.1:p.?	NC_000012.11:g.125270631G>C	(Likely) benign	1 lab	3c0b98fd0a
15:67477177 SMAD3 G>C	15	67477177	67477177	G	C	SMAD3	c.984G>C	NM_005902.4	NP_005893.1:p.(Pro328=)	NC_000015.9:g.67477177G>C	(Likely) benign	1 lab	3c0c819394
15:45396194 DUOX2 C>A	15	45396194	45396194	C	A	DUOX2	c.2618G>T	NM_014080.5	NP_054799.4:p.(Gly873Val)	NC_000015.9:g.45396194C>A	VUS	1 lab	3c0e15547d
16:57017282 CETP A>G	16	57017282	57017282	A	G	CETP	c.1366A>G	NM_000078.3	NP_000069.2:p.(Ser456Gly)	NC_000016.9:g.57017282A>G	VUS	1 lab	3c3b5bea6b
13:114325990 GRK1 T>TGGGAGGGATGAGGGCTACGAGGAGGGCG	13	114325990	114325994	T	TGGGAGGGATGAGGGCTACGAGGAGGGCG	GRK1	c.985+22_985+23insAGGGATGAGGGCTACGAGGAGGGCGGGG	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114325993_114325994insAGGGATGAGGGCTACGAGGAGGGCGGGG	(Likely) benign	1 lab	3c18061831
11:46342081 CREB3L1 TG>T	11	46342081	46342085	TG	T	CREB3L1	c.1523+6del	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46342085del	(Likely) benign	1 lab	3c18c11757
13:32944564 BRCA2 C>A	13	32944564	32944564	C	A	BRCA2	c.8357C>A	NM_000059.4	NP_000050.3:p.(Ala2786Asp)	NC_000013.10:g.32944564C>A	VUS	1 lab	3c19b490de
3:100992404 IMPG2 G>GT	3	100992404	100992414	G	GT	IMPG2	c.828+20dup	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100992414dup	(Likely) benign	1 lab	3c1adfb6d9
1:205027083 CNTN2 C>T	1	205027083	205027083	C	T	CNTN2	c.105C>T	NM_005076.5	NP_005067.1:p.(Phe35=)	NC_000001.10:g.205027083C>T	(Likely) benign	1 lab	3c20cfc15d
1:978856 AGRN G>A	1	978856	978856	G	A	AGRN	c.1603+19G>A	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.978856G>A	(Likely) benign	1 lab	3c2287e15b
16:89986197 MC1R G>A	16	89986197	89986197	G	A	MC1R	c.531G>A	NM_002386.4	NP_002377.4:p.(Thr177=)	NC_000016.9:g.89986197G>A	(Likely) benign	1 lab	3c264c64e2
7:132915191 MISSING Ref too long to show for this DEL>G	7	132915191	133033936	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.132915194_133033936del	VUS	1 lab	3c269a43f5
1:877932 SAMD11 G>C	1	877932	877932	G	C	SAMD11	c.1065-7G>C	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.877932G>C	(Likely) benign	1 lab	3c274ae0bc
6:32011714 TNXB A>G	6	32011714	32011714	A	G	TNXB	c.11381-45T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011714A>G	(Likely) benign	1 lab	3c2a075952
10:18828669 CACNB2 GTTT>G	10	18828669	18828688	GTTT	G	CACNB2	c.*33_*35del	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828686_18828688del	(Likely) benign	1 lab	3c31663b3f
1:55523732 PCSK9 G>T	1	55523732	55523732	G	T	PCSK9	c.1204G>T	NM_174936.4	NP_777596.2:p.(Ala402Ser)	NC_000001.10:g.55523732G>T	VUS	1 lab	3c383b9964
16:29432211 MISSING Ref too long to show for this DEL>C	16	29432211	30240227	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29432212_30240227del	(Likely) pathogenic	1 lab	3c3d471934
4:126370451 FAT4 G>A	4	126370451	126370451	G	A	FAT4	c.8286G>A	NM_001291303.3	NP_001278232.1:p.(Met2762Ile)	NC_000004.11:g.126370451G>A	(Likely) benign	1 lab	3c3dbc3f23
7:128034542 IMPDH1 C>T	7	128034542	128034542	C	T	IMPDH1	c.1662G>A	NM_000883.4	NP_000874.2:p.(Gln554=)	NC_000007.13:g.128034542C>T	(Likely) benign	1 lab	3c3e7b953f
17:39923717 JUP G>A	17	39923717	39923717	G	A	JUP	c.823C>T	NM_002230.4	NP_002221.1:p.(Pro275Ser)	NC_000017.10:g.39923717G>A	VUS	1 lab	3c44823f31
2:179544796 TTN A>G	2	179544796	179544796	A	G	TTN	c.33419-14T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544796A>G	(Likely) benign	1 lab	3c45163503
14:23899838 MYH7 A>G	14	23899838	23899838	A	G	MYH7	c.930T>C	NM_000257.4	NP_000248.2:p.(Tyr310=)	NC_000014.8:g.23899838A>G	(Likely) benign	1 lab	3c496abeaf
5:90445862 ADGRV1 A>T	5	90445862	90445862	A	T	ADGRV1	c.18448A>T	NM_032119.4	NP_115495.3:p.(Met6150Leu)	NC_000005.9:g.90445862A>T	(Likely) benign	1 lab	3c4e3e6e14
9:432140 DOCK8 CT>C	9	432140	432154	CT	C	DOCK8	c.4627-12del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.432154del	(Likely) benign	1 lab	3c50063d5f
10:89725187 PTEN A>C	10	89725187	89725187	A	C	PTEN	c.1170A>C	NM_000314.8	NP_000305.3:p.(Glu390Asp)	NC_000010.10:g.89725187A>C	(Likely) benign	1 lab	3c52afcff2
4:57488176 MISSING Ref too long to show for this DEL>A	4	57488176	57545018	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.57488179_57545018del	VUS	1 lab	3c5537d9b8
3:38642642 SCN5A T>C	3	38642642	38642642	T	C	SCN5A	c.1891-2101A>G	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38642642T>C	(Likely) benign	1 lab	3c5791ec91
2:212578379 ERBB4 T>TAA	2	212578379	212578393	T	TAA	ERBB4	c.884-8_884-7dup	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212578392_212578393dup	(Likely) benign	1 lab	3c5795cf79
1:64574407 ROR1 T>Alt too long to show for this DUP	1	64574407	64596107	T	Alt too long to show for this DUP	ROR1	c.483-28644_483-6945dup	NM_005012.4	NP_005003.2:p.?	NC_000001.10:g.64574408_64596107dup	VUS	1 lab	3c58a5431b
2:179481710 TTN T>A	2	179481710	179481710	T	A	TTN	c.47906A>T	NM_001267550.2	NP_001254479.2:p.(Lys15969Ile)	NC_000002.11:g.179481710T>A	VUS	1 lab	3c5cdb5c4f
1:179033561 FAM20B C>T	1	179033561	179033561	C	T	FAM20B	c.868C>T	NM_014864.4	NP_055679.1:p.(Arg290Cys)	NC_000001.10:g.179033561C>T	(Likely) pathogenic	1 lab	3c5e138883
11:47372291 MYBPC3 C>T	11	47372291	47372291	C	T	MYBPC3	c.293-125G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372291C>T	(Likely) benign	1 lab	3c5e2cdded
17:7847812 CNTROB G>A	17	7847812	7847812	G	A	CNTROB	c.1590G>A	NM_053051.5	NP_444279.2:p.(Ala530=)	NC_000017.10:g.7847812G>A	(Likely) benign	1 lab	3c5fcb5da3
12:33030874 PKP2 C>T	12	33030874	33030874	C	T	PKP2	c.940G>A	NM_004572.4	NP_004563.2:p.(Gly314Arg)	NC_000012.11:g.33030874C>T	VUS	1 lab	3c66edf656
2:47600781 EPCAM T>C	2	47600781	47600781	T	C	EPCAM	c.184+72T>C	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47600781T>C	(Likely) benign	1 lab	3c6c14ff3c
2:21238993 APOB C>A	2	21238993	21238993	C	A	APOB	c.3332+318G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238993C>A	(Likely) benign	1 lab	3c746ce952
1:55529026 PCSK9 C>T	1	55529026	55529026	C	T	PCSK9	c.1864-16C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55529026C>T	(Likely) benign	1 lab	3c757273b9
15:23892110 MAGEL2 G>A	15	23892110	23892110	G	A	MAGEL2	c.780C>T	NM_019066.5	NP_061939.3:p.(Val260=)	NC_000015.9:g.23892110G>A	(Likely) benign	1 lab	3c77a49cf1
1:9778897 PIK3CD G>T	1	9778897	9778897	G	T	PIK3CD	c.1166G>T	NM_001350234.2	NP_001337163.1:p.(Arg389Leu)	NC_000001.10:g.9778897G>T	VUS	1 lab	3c7fbf2dab
1:237965197 RYR2 G>A	1	237965197	237965197	G	A	RYR2	c.14132G>A	NM_001035.3	NP_001026.2:p.(Gly4711Glu)	NC_000001.10:g.237965197G>A	VUS	1 lab	3c825280aa
16:58577315 CNOT1 GAA>G	16	58577315	58577328	GAA	G	CNOT1	c.4628_4629del	NM_206999.3	NP_996882.1:p.(Phe1543SerfsTer22)	NC_000016.9:g.58577327_58577328del	(Likely) benign	1 lab	3c832672ce
12:48369862 COL2A1 G>T	12	48369862	48369862	G	T	COL2A1	c.3490-9C>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48369862G>T	(Likely) benign	1 lab	3c853ef02b
2:149241329 MBD5 C>T	2	149241329	149241329	C	T	MBD5	c.3169C>T	NM_001378120.1	NP_001365049.1:p.(Pro1057Ser)	NC_000002.11:g.149241329C>T	(Likely) benign	1 lab	3cc52ebd51
4:114232495 ANK2 G>A	4	114232495	114232495	G	A	ANK2	c.2738G>A	NM_001386174.1	NP_001373103.1:p.(Ser913Asn)	NC_000004.11:g.114232495G>A	VUS	1 lab	3c9777d7b6
14:95592975 DICER1 T>C	14	95592975	95592975	T	C	DICER1	c.845A>G	NM_177438.3	NP_803187.1:p.(Asn282Ser)	NC_000014.8:g.95592975T>C	VUS	1 lab	3c9901d313
X:49054268 SYP C>T	X	49054268	49054268	C	T	SYP	c.133G>A	NM_003179.3	NP_003170.1:p.(Gly45Ser)	NC_000023.10:g.49054268C>T	VUS	1 lab	3c9e2077c4
15:50519353 SLC27A2 G>A	15	50519353	50519353	G	A	SLC27A2	c.1435G>A	NM_003645.4	NP_003636.2:p.(Asp479Asn)	NC_000015.9:g.50519353G>A	VUS	1 lab	3ca2a7f0ee
7:150655309 KCNH2 G>T	7	150655309	150655309	G	T	KCNH2	c.754C>A	NM_000238.4	NP_000229.1:p.(Arg252=)	NC_000007.13:g.150655309G>T	(Likely) benign	1 lab	3ca6a926b3
1:17313681 ATP13A2 C>G	1	17313681	17313681	C	G	ATP13A2	c.2928G>C	NM_001141973.3	NP_001135445.1:p.(Thr976=)	NC_000001.10:g.17313681C>G	(Likely) benign	1 lab	3caa0133fd
4:166418725 CPE A>G	4	166418725	166418725	A	G	CPE	c.1394A>G	NM_001873.4	NP_001864.1:p.(Glu465Gly)	NC_000004.11:g.166418725A>G	(Likely) benign	1 lab	3cad324751
15:73616430 HCN4 C>A	15	73616430	73616430	C	A	HCN4	c.2143G>T	NM_005477.3	NP_005468.1:p.(Gly715Cys)	NC_000015.9:g.73616430C>A	VUS	1 lab	3cae6210b2
7:103206001 RELN G>GAA	7	103206001	103206012	G	GAA	RELN	c.4937-5_4937-4dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103206011_103206012dup	(Likely) benign	1 lab	3cb004d672
9:16906542 MISSING Ref too long to show for this DEL>A	9	16906542	17549327	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.16906543_17549327del	VUS	1 lab	3cc0329986
14:102471027 DYNC1H1 T>C	14	102471027	102471027	T	C	DYNC1H1	c.5049+7T>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102471027T>C	(Likely) benign	1 lab	3cc7de802c
16:29838536 MISSING A>Alt too long to show for this DUP	16	29838536	29993451	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29838538_29993451dup	(Likely) pathogenic	1 lab	3ccaefd0e6
15:73615465 HCN4 G>C	15	73615465	73615465	G	C	HCN4	c.2969C>G	NM_005477.3	NP_005468.1:p.(Pro990Arg)	NC_000015.9:g.73615465G>C	VUS	1 lab	3ccba785fa
2:219677475 CYP27A1 GAGGACTCCC>G	2	219677475	219677486	GAGGACTCCC	G	CYP27A1	c.844+6_844+14del	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677478_219677486del	VUS	1 lab	3cd318414d
17:61476158 MISSING Ref too long to show for this DEL>A	17	61476158	61576264	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.61476160_61576264del	VUS	1 lab	3cd3ec4e6a
2:21242656 APOB C>T	2	21242656	21242656	C	T	APOB	c.2938G>A	NM_000384.3	NP_000375.3:p.(Ala980Thr)	NC_000002.11:g.21242656C>T	(Likely) benign	1 lab	3cd51d8a16
15:85383042 ALPK3 C>T	15	85383042	85383042	C	T	ALPK3	c.532C>T	NM_020778.5	NP_065829.4:p.(His178Tyr)	NC_000015.9:g.85383042C>T	VUS	1 lab	3cd7537819
9:113174025 SVEP1 T>C	9	113174025	113174025	T	C	SVEP1	c.5976-10A>G	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113174025T>C	(Likely) benign	1 lab	3cdf6dfc42
19:13414691 CACNA1A G>A	19	13414691	13414691	G	A	CACNA1A	c.1997C>T	NM_001127221.2	NP_001120693.1:p.(Thr666Met)	NC_000019.9:g.13414691G>A	(Likely) pathogenic	1 lab	3ce1601242
16:30997015 HSD3B7 C>A	16	30997015	30997015	C	A	HSD3B7	c.36C>A	NM_001142777.2	NP_001136249.1:p.(Tyr12Ter)	NC_000016.9:g.30997015C>A	(Likely) pathogenic	1 lab	3ce3dd50e1
2:27600778 ZNF513 G>A	2	27600778	27600778	G	A	ZNF513	c.1260C>T	NM_144631.6	NP_653232.3:p.(Leu420=)	NC_000002.11:g.27600778G>A	(Likely) benign	1 lab	3ce4736b0c
11:63426713 ATL3 C>A	11	63426713	63426713	C	A	ATL3	c.4G>T	NM_001290048.2	NP_001276977.1:p.(Glu2Ter)	NC_000011.9:g.63426713C>A	VUS	1 lab	3ce6bee5e2
1:55512298 PCSK9 G>A	1	55512298	55512298	G	A	PCSK9	c.502G>A	NM_174936.4	NP_777596.2:p.(Ala168Thr)	NC_000001.10:g.55512298G>A	VUS	1 lab	3d1b9ce263
3:184071019 CLCN2 T>C	3	184071019	184071019	T	C	CLCN2	c.2028+19A>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184071019T>C	(Likely) benign	1 lab	3cf4d619b8
6:150716546 IYD T>C	6	150716546	150716546	T	C	IYD	c.704T>C	NM_001164695.2	NP_001158167.1:p.(Ile235Thr)	NC_000006.11:g.150716546T>C	(Likely) benign	1 lab	3cf9900891
X:50326679 SHROOM4 G>Alt too long to show for this DUP	X	50326679	50439966	G	Alt too long to show for this DUP	SHROOM4				NC_000023.10:g.50326682_50439966dup	VUS	1 lab	3cfa6b79ed
19:8152725 FBN3 A>G	19	8152725	8152725	A	G	FBN3	c.6603T>C	NM_032447.5	NP_115823.3:p.(Asp2201=)	NC_000019.9:g.8152725A>G	(Likely) benign	1 lab	3cfdc3414d
1:155207387 GBA1 A>T	1	155207387	155207387	A	T	GBA1	c.762-18T>A	NM_001005741.3	NP_001005741.1:p.?	NC_000001.10:g.155207387A>T	(Likely) benign	1 lab	3d01379d90
3:38648200 SCN5A C>T	3	38648200	38648200	C	T	SCN5A	c.1100G>A	NM_198056.3	NP_932173.1:p.(Arg367His)	NC_000003.11:g.38648200C>T	(Likely) pathogenic	1 lab	3d0169159e
7:138603910 KIAA1549 G>C	7	138603910	138603910	G	C	KIAA1549	c.462C>G	NM_001164665.2	NP_001158137.1:p.(Asp154Glu)	NC_000007.13:g.138603910G>C	(Likely) benign	1 lab	3d01d9c371
1:11184597 MTOR G>A	1	11184597	11184597	G	A	MTOR	c.6620C>T	NM_004958.4	NP_004949.1:p.(Thr2207Ile)	NC_000001.10:g.11184597G>A	VUS	1 lab	3d0251d892
2:166234160 SCN2A TG>T	2	166234160	166234161	TG	T	SCN2A	c.4308+1del	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166234161del	(Likely) pathogenic	1 lab	3d053961a5
5:82816305 VCAN C>G	5	82816305	82816305	C	G	VCAN	c.2180C>G	NM_004385.5	NP_004376.2:p.(Ser727Cys)	NC_000005.9:g.82816305C>G	(Likely) benign	1 lab	3d0f4991d5
19:45452067 APOC2 C>T	19	45452067	45452067	C	T	APOC2	c.165C>T	NM_000483.5	NP_000474.2:p.(Ala55=)	NC_000019.9:g.45452067C>T	(Likely) benign	1 lab	3d14196caa
9:21974816 CDKN2A G>C	9	21974816	21974816	G	C	CDKN2A	c.11C>G	NM_000077.5	NP_000068.1:p.(Ala4Gly)	NC_000009.11:g.21974816G>C	VUS	1 lab	3d1bd1cb1d
2:21234308 APOB T>C	2	21234308	21234308	T	C	APOB	c.5432A>G	NM_000384.3	NP_000375.3:p.(Asn1811Ser)	NC_000002.11:g.21234308T>C	(Likely) benign	1 lab	3d217ac258
10:89711961 PTEN G>A	10	89711961	89711961	G	A	PTEN	c.579G>A	NM_000314.8	NP_000305.3:p.(Leu193=)	NC_000010.10:g.89711961G>A	(Likely) benign	1 lab	3d2339c43d
20:62654199 PRPF6 C>T	20	62654199	62654199	C	T	PRPF6	c.1737C>T	NM_012469.4	NP_036601.2:p.(Arg579=)	NC_000020.10:g.62654199C>T	(Likely) benign	1 lab	3d25d4d3d1
6:30954462 MUC21 C>T	6	30954462	30954462	C	T	MUC21	c.510C>T	NM_001010909.5	NP_001010909.2:p.(Ser170=)	NC_000006.11:g.30954462C>T	(Likely) benign	1 lab	3d26f32003
18:19321555 MIB1 C>G	18	19321555	19321555	C	G	MIB1	c.11C>G	NM_020774.4	NP_065825.1:p.(Ser4Cys)	NC_000018.9:g.19321555C>G	VUS	1 lab	3d2a5c88b4
6:152583322 SYNE1 C>T	6	152583322	152583322	C	T	SYNE1	c.18817G>A	NM_182961.4	NP_892006.3:p.(Glu6273Lys)	NC_000006.11:g.152583322C>T	VUS	1 lab	3d2dcd2830
16:29567294 MISSING Ref too long to show for this DEL>A	16	29567294	30302348	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567296_30302348del	(Likely) pathogenic	1 lab	3d31b0b51f
2:179571245 TTN A>G	2	179571245	179571245	A	G	TTN	c.25624T>C	NM_133378.4	NP_596869.4:p.(Leu8542=)	NC_000002.11:g.179571245A>G	(Likely) benign	1 lab	3d4822c382
X:32553660 DMD Ref too long to show for this DEL>T	X	32553660	32977049	Ref too long to show for this DEL	T	DMD	c.93+61207_2168+9615del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32553661_32977049del	(Likely) pathogenic	1 lab	3d4af9339f
3:38620653 SCN5A C>T	3	38620653	38620653	C	T	SCN5A	c.3390+172G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38620653C>T	(Likely) benign	1 lab	3d4c9afece
2:44506990 MISSING Ref too long to show for this DEL>C	2	44506990	44581465	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.44506993_44581465del	VUS	1 lab	3d4cc98066
12:125302137 SCARB1 G>A	12	125302137	125302137	G	A	SCARB1	c.243C>T	NM_001367981.1	NP_001354910.1:p.(Gly81=)	NC_000012.11:g.125302137G>A	VUS	1 lab	3d611f648f
2:179643593 TTN A>G	2	179643593	179643593	A	G	TTN	c.4208+8T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179643593A>G	(Likely) benign	1 lab	3d619ead2e
10:104161796 NFKB2 T>A	10	104161796	104161796	T	A	NFKB2	c.2467-9T>A	NM_001288724.1	NP_001275653.1:p.?	NC_000010.10:g.104161796T>A	(Likely) benign	1 lab	3d69a7c8de
22:51159311 SHANK3 A>ACCCG	22	51159311	51159314	A	ACCCG	SHANK3	c.3277_3278insCGCC	NM_001372044.2	NP_001358973.1:p.(Arg1093ProfsTer279)	NC_000022.10:g.51159313_51159314insCGCC	(Likely) pathogenic	1 lab	3d77e18767
15:71535678 THSD4 T>A	15	71535678	71535678	T	A	THSD4	c.912+243T>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71535678T>A	(Likely) benign	1 lab	3d8254ba0c
1:3342175 PRDM16 C>T	1	3342175	3342175	C	T	PRDM16	c.2970C>T	NM_022114.4	NP_071397.3:p.(Ile990=)	NC_000001.10:g.3342175C>T	(Likely) benign	1 lab	3d8278d446
4:163773241 MISSING A>Alt too long to show for this DUP	4	163773241	164433695	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.163773245_164433695dup	(Likely) pathogenic	1 lab	3d8418e4aa
2:179395717 TTN T>G	2	179395717	179395717	T	G	TTN	c.97921A>C	NM_133378.4	NP_596869.4:p.(Lys32641Gln)	NC_000002.11:g.179395717T>G	VUS	1 lab	3d846df039
12:103352160 ASCL1 A>T	12	103352160	103352160	A	T	ASCL1	c.138A>T	NM_004316.4	NP_004307.2:p.(Ala46=)	NC_000012.11:g.103352160A>T	(Likely) benign	1 lab	3d8675f411
20:9036376 MISSING A>Alt too long to show for this DUP	20	9036376	9100593	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.9036377_9100593dup	VUS	1 lab	3d8d9bb983
17:37821717 TCAP G>A	17	37821717	37821717	G	A	TCAP	c.105G>A	NM_003673.4	NP_003664.1:p.(Glu35=)	NC_000017.10:g.37821717G>A	(Likely) benign	1 lab	3d96507ecd
12:110232308 TRPV4 T>G	12	110232308	110232308	T	G	TRPV4	c.1333-16A>C	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110232308T>G	(Likely) benign	1 lab	3d96bbf7cc
12:125270812 SCARB1 C>A	12	125270812	125270812	C	A	SCARB1	c.1401+91G>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125270812C>A	(Likely) benign	1 lab	3d9b3b6c63
17:40717494 COASY C>CGT	17	40717494	40717505	C	CGT	COASY	c.1403_1404dup	NM_025233.7	NP_079509.5:p.(Ile469Ter)	NC_000017.10:g.40717504_40717505dup	(Likely) pathogenic	1 lab	3d9fb09ad7
18:28649059 DSC2 CCACAAA>C	18	28649059	28649066	CCACAAA	C	DSC2	c.2303_2308del	NM_004949.5	NP_004940.1:p.(Val768_Cys769del)	NC_000018.9:g.28649061_28649066del	(Likely) benign	1 lab	3da3f00f79
X:118603941 SLC25A5 T>C	X	118603941	118603941	T	C	SLC25A5	c.429T>C	NM_001152.5	NP_001143.2:p.(Ala143=)	NC_000023.10:g.118603941T>C	(Likely) benign	1 lab	3da420acee
1:156785613 NTRK1 A>G	1	156785613	156785613	A	G	NTRK1	c.-9A>G	NM_001007792.1	NP_001007793.1:p.?	NC_000001.10:g.156785613A>G	(Likely) benign	1 lab	3da515cd84
15:48726937 FBN1 A>T	15	48726937	48726937	A	T	FBN1	c.6497-27T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48726937A>T	(Likely) benign	1 lab	3da6aaf726
6:75851788 COL12A1 G>A	6	75851788	75851788	G	A	COL12A1	c.4917C>T	NM_004370.6	NP_004361.3:p.(Asp1639=)	NC_000006.11:g.75851788G>A	(Likely) benign	1 lab	3dad058d66
1:156830837 NTRK1 C>T	1	156830837	156830837	C	T	NTRK1	c.111C>T	NM_002529.4	NP_002520.2:p.(Pro37=)	NC_000001.10:g.156830837C>T	(Likely) benign	1 lab	3db507ae39
9:107593333 ABCA1 C>T	9	107593333	107593333	C	T	ABCA1	c.1765G>A	NM_005502.4	NP_005493.2:p.(Val589Ile)	NC_000009.11:g.107593333C>T	VUS	1 lab	3db66e17fc
11:116703517 APOC3 T>C	11	116703517	116703517	T	C	APOC3	c.217T>C	NM_000040.3	NP_000031.1:p.(Tyr73His)	NC_000011.9:g.116703517T>C	VUS	1 lab	3db708d61c
11:116706893 APOA1 C>G	11	116706893	116706893	C	G	APOA1	c.108G>C	NM_001318021.1	NP_001304950.1:p.(Pro36=)	NC_000011.9:g.116706893C>G	(Likely) benign	1 lab	3dc54b7bcb
5:90002220 ADGRV1 C>CTT	5	90002220	90002232	C	CTT	ADGRV1	c.8730+20_8730+21dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90002231_90002232dup	(Likely) benign	1 lab	3dcba976b8
16:70305757 AARS1 C>T	16	70305757	70305757	C	T	AARS1	c.598G>A	NM_001605.3	NP_001596.2:p.(Ala200Thr)	NC_000016.9:g.70305757C>T	VUS	1 lab	3dcc09c539
5:127712494 FBN2 A>G	5	127712494	127712494	A	G	FBN2	c.1902T>C	NM_001999.4	NP_001990.2:p.(Asn634=)	NC_000005.9:g.127712494A>G	(Likely) benign	1 lab	3dcf9402f2
2:219677830 CYP27A1 G>C	2	219677830	219677830	G	C	CYP27A1	c.1017+11G>C	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677830G>C	(Likely) benign	1 lab	3dd59e5d7e
1:9782191 PIK3CD C>A	1	9782191	9782191	C	A	PIK3CD	c.2211C>A	NM_001350234.2	NP_001337163.1:p.(Ser737Arg)	NC_000001.10:g.9782191C>A	VUS	1 lab	3dd5efc6b8
19:8159409 FBN3 G>T	19	8159409	8159409	G	T	FBN3	c.5826C>A	NM_032447.5	NP_115823.3:p.(Pro1942=)	NC_000019.9:g.8159409G>T	(Likely) benign	1 lab	3dd5ff410f
20:2582732 MISSING Ref too long to show for this DEL>A	20	2582732	3817098	Ref too long to show for this DEL	A	MISSING				NC_000020.10:g.2582734_3817098del	(Likely) pathogenic	1 lab	3ddefbc571
22:38539273 PLA2G6 C>T	22	38539273	38539273	C	T	PLA2G6	c.448G>A	NM_001349864.2	NP_001336793.1:p.(Glu150Lys)	NC_000022.10:g.38539273C>T	VUS	1 lab	3de17ed0ad
8:59404321 CYP7A1 CA>C	8	59404321	59404322	CA	C	CYP7A1	c.1227del	NM_000780.4	NP_000771.2:p.(Tyr409Ter)	NC_000008.10:g.59404322del	VUS	1 lab	3de28ffdeb
6:32011296 TNXB C>T	6	32011296	32011296	C	T	TNXB	c.11562G>A	NM_019105.8	NP_061978.6:p.(Leu3854=)	NC_000006.11:g.32011296C>T	(Likely) benign	1 lab	3de4c46e45
9:119461176 TRIM32 A>C	9	119461176	119461176	A	C	TRIM32	c.1155A>C	NM_012210.4	NP_036342.2:p.(Val385=)	NC_000009.11:g.119461176A>C	(Likely) benign	1 lab	3de511e7e4
9:107548566 ABCA1 T>C	9	107548566	107548566	T	C	ABCA1	c.6401+13A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548566T>C	(Likely) benign	1 lab	3decb5e9c4
15:85411458 ALPK3 C>T	15	85411458	85411458	C	T	ALPK3	c.4889C>T	NM_020778.5	NP_065829.4:p.(Ala1630Val)	NC_000015.9:g.85411458C>T	VUS	1 lab	3df2deadea
10:13333922 PHYH CA>C	10	13333922	13333932	CA	C	PHYH	c.115-11del	NM_001037537.2	NP_001032626.1:p.?	NC_000010.10:g.13333932del	(Likely) benign	1 lab	3df30b64a0
3:14190151 XPC G>T	3	14190151	14190151	G	T	XPC	c.2331C>A	NM_004628.5	NP_004619.3:p.(Pro777=)	NC_000003.11:g.14190151G>T	(Likely) benign	1 lab	3df5bda527
2:228560627 SLC19A3 T>G	2	228560627	228560627	T	G	SLC19A3	c.1150A>C	NM_025243.4	NP_079519.1:p.(Met384Leu)	NC_000002.11:g.228560627T>G	(Likely) benign	1 lab	3df6b5c1e6
9:101867558 TGFBR1 C>T	9	101867558	101867558	C	T	TGFBR1	c.71C>T	NM_004612.4	NP_004603.1:p.(Ala24Val)	NC_000009.11:g.101867558C>T	(Likely) benign	1 lab	3df7e13b69
2:21230262 APOB C>T	2	21230262	21230262	C	T	APOB	c.9478G>A	NM_000384.3	NP_000375.3:p.(Glu3160Lys)	NC_000002.11:g.21230262C>T	VUS	1 lab	3dfd582cea
11:65829174 SF3B2 A>G	11	65829174	65829174	A	G	SF3B2	c.1797A>G	NM_006842.3	NP_006833.2:p.(Thr599=)	NC_000011.9:g.65829174A>G	(Likely) benign	1 lab	3e009ac8db
2:179603936 TTN T>C	2	179603936	179603936	T	C	TTN	c.14024A>G	NM_001267550.2	NP_001254479.2:p.(Tyr4675Cys)	NC_000002.11:g.179603936T>C	VUS	1 lab	3e4b7a050d
10:92678744 ANKRD1 A>ATATATATATAT	10	92678744	92678745	A	ATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATAT	(Likely) benign	1 lab	3e03261e37
15:59855405 MISSING T>Alt too long to show for this DUP	15	59855405	59921543	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.59855406_59921543dup	VUS	1 lab	3e11de52f1
10:124221270 HTRA1 C>T	10	124221270	124221270	C	T	HTRA1	c.102C>T	NM_002775.5	NP_002766.1:p.(Ala34=)	NC_000010.10:g.124221270C>T	(Likely) benign	1 lab	3e186899b1
17:42289243 UBTF AGGTGGCTT>A	17	42289243	42289256	AGGTGGCTT	A	UBTF	c.895_902del	NM_014233.4	NP_055048.1:p.(Lys299SerfsTer47)	NC_000017.10:g.42289249_42289256del	VUS	1 lab	3e19319fb2
2:21266782 APOB C>A	2	21266782	21266782	C	A	APOB	c.36G>T	NM_000384.3	NP_000375.3:p.(Leu12=)	NC_000002.11:g.21266782C>A	(Likely) benign	1 lab	3e1a8585f0
19:11226601 LDLR CAA>C	19	11226601	11226619	CAA	C	LDLR	c.1587-152_1587-151del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226618_11226619del	(Likely) benign	1 lab	3e1e3e5ae4
21:45091138 MISSING Ref too long to show for this DEL>G	21	45091138	45159797	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.45091139_45159797del	VUS	1 lab	3e2117ccf3
X:70444048 GJB1 G>A	X	70444048	70444048	G	A	GJB1	c.491G>A	NM_000166.6	NP_000157.1:p.(Arg164Gln)	NC_000023.10:g.70444048G>A	(Likely) pathogenic	1 lab	3e28b1262d
1:201341166 TNNT2 G>C	1	201341166	201341166	G	C	TNNT2	c.56C>G	NM_001276347.2	NP_001263276.1:p.(Ala19Gly)	NC_000001.10:g.201341166G>C	VUS	1 lab	3e28b480cd
15:23892830 MAGEL2 C>G	15	23892830	23892830	C	G	MAGEL2	c.60G>C	NM_019066.5	NP_061939.3:p.(Pro20=)	NC_000015.9:g.23892830C>G	(Likely) benign	1 lab	3e28c71825
6:10784819 MAK GA>G	6	10784819	10784822	GA	G	MAK	c.1317-15del	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10784822del	(Likely) benign	1 lab	3e31d46340
2:25384300 POMC T>C	2	25384300	25384300	T	C	POMC	c.454A>G	NM_001035256.3	NP_001030333.1:p.(Lys152Glu)	NC_000002.11:g.25384300T>C	VUS	1 lab	3e337df780
21:44488288 CBS G>A	21	44488288	44488288	G	A	CBS	c.316+331C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44488288G>A	(Likely) benign	1 lab	3e38b10171
17:72914155 USH1G G>A	17	72914155	72914155	G	A	USH1G	c.*13C>T	NM_173477.5	NP_775748.2:p.?	NC_000017.10:g.72914155G>A	(Likely) benign	1 lab	3e3c1ec56e
17:68171393 KCNJ2 C>A	17	68171393	68171393	C	A	KCNJ2	c.213C>A	NM_000891.3	NP_000882.1:p.(Asp71Glu)	NC_000017.10:g.68171393C>A	VUS	1 lab	3e4f469187
17:7232443 NEURL4 C>T	17	7232443	7232443	C	T	NEURL4	c.189G>A	NM_032442.3	NP_115818.2:p.(Arg63=)	NC_000017.10:g.7232443C>T	(Likely) benign	1 lab	3e5370778e
16:1004834 LMF1 T>C	16	1004834	1004834	T	C	LMF1	c.194-168A>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1004834T>C	(Likely) benign	1 lab	3e5518a66e
2:64210979 VPS54 C>CA	2	64210979	64210990	C	CA	VPS54	c.136+18dup	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64210990dup	(Likely) benign	1 lab	3e5924a52a
20:742217 SLC52A3 C>G	20	742217	742217	C	G	SLC52A3	c.1197+128G>C	NM_033409.4	NP_212134.3:p.?	NC_000020.10:g.742217C>G	(Likely) benign	1 lab	3e5b3ad7e5
15:22740572 MISSING C>Alt too long to show for this DUP	15	22740572	23255068	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22740573_23255068dup	(Likely) benign	1 lab	3e5ebf2959
19:11342892 DOCK6 G>A	19	11342892	11342892	G	A	DOCK6	c.2792C>T	NM_001367830.1	NP_001354759.1:p.(Ala931Val)	NC_000019.9:g.11342892G>A	(Likely) benign	1 lab	3e5f5d9298
5:127623097 FBN2 T>G	5	127623097	127623097	T	G	FBN2	c.6783A>C	NM_001999.4	NP_001990.2:p.(Pro2261=)	NC_000005.9:g.127623097T>G	(Likely) benign	1 lab	3e63e0e127
14:103593417 TNFAIP2 TGGC>T	14	103593417	103593437	TGGC	T	TNFAIP2	c.329_331del	NM_006291.4	NP_006282.2:p.(Ala110del)	NC_000014.8:g.103593435_103593437del	(Likely) benign	1 lab	3e6482a185
X:32546750 DMD Ref too long to show for this DEL>C	X	32546750	32629284	Ref too long to show for this DEL	C	DMD	c.1482+3137_2169-10503del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32546752_32629284del	(Likely) pathogenic	1 lab	3e653d2ce5
5:73236739 ARHGEF28 G>A	5	73236739	73236739	G	A	ARHGEF28	c.5097G>A	NM_001080479.3	NP_001073948.2:p.(Ala1699=)	NC_000005.9:g.73236739G>A	(Likely) benign	1 lab	3e6ed52765
12:21353503 SLCO1B1 G>C	12	21353503	21353503	G	C	SLCO1B1	c.1032G>C	NM_006446.5	NP_006437.3:p.(Leu344Phe)	NC_000012.11:g.21353503G>C	(Likely) benign	1 lab	3e70bcb990
10:60483729 BICC1 A>Alt too long to show for this DUP	10	60483729	60516630	A	Alt too long to show for this DUP	BICC1	c.307+21829_308-28131dup	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60483732_60516630dup	VUS	1 lab	3e71973713
1:3328867 PRDM16 G>A	1	3328867	3328867	G	A	PRDM16	c.2106G>A	NM_022114.4	NP_071397.3:p.(Lys702=)	NC_000001.10:g.3328867G>A	(Likely) benign	1 lab	3e7c4de659
17:48271307 COL1A1 A>G	17	48271307	48271307	A	G	COL1A1	c.1764T>C	NM_000088.4	NP_000079.2:p.(Ala588=)	NC_000017.10:g.48271307A>G	(Likely) benign	1 lab	3e7c8a79b7
11:10582186 LYVE1 CAGG>C	11	10582186	10582194	CAGG	C	LYVE1	c.556_558del	NM_006691.4	NP_006682.2:p.(Pro186del)	NC_000011.9:g.10582192_10582194del	(Likely) benign	1 lab	3e7cf6d237
20:12990044 SPTLC3 T>C	20	12990044	12990044	T	C	SPTLC3	c.117+12T>C	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.12990044T>C	(Likely) benign	1 lab	3e851da476
5:131915154 RAD50 G>T	5	131915154	131915154	G	T	RAD50	c.511G>T	NM_005732.4	NP_005723.2:p.(Ala171Ser)	NC_000005.9:g.131915154G>T	(Likely) benign	1 lab	3e8598a890
4:172638375 MISSING Ref too long to show for this DEL>G	4	172638375	173391891	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.172638376_173391891del	VUS	1 lab	3e8bf1ae5e
2:69240651 ANTXR1 G>A	2	69240651	69240651	G	A	ANTXR1	c.20G>A	NM_032208.3	NP_115584.1:p.(Arg7Lys)	NC_000002.11:g.69240651G>A	(Likely) benign	1 lab	3ea551c1fa
7:42076840 GLI3 Ref too long to show for this DEL>G	7	42076840	42079356	Ref too long to show for this DEL	G	GLI3	c.1028+282_1028+2796del	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42076842_42079356del	VUS	1 lab	3eae5e1561
7:128492797 FLNC C>T	7	128492797	128492797	C	T	FLNC	c.5995C>T	NM_001458.5	NP_001449.3:p.(Arg1999Trp)	NC_000007.13:g.128492797C>T	VUS	1 lab	3eb1b69e10
2:179638996 TTN T>C	2	179638996	179638996	T	C	TTN	c.6995A>G	NM_001267550.2	NP_001254479.2:p.(Asp2332Gly)	NC_000002.11:g.179638996T>C	VUS	1 lab	3eb287b4e2
12:124288212 DNAH10 C>T	12	124288212	124288212	C	T	DNAH10	c.2265C>T	NM_207437.3	NP_997320.2:p.(Ile755=)	NC_000012.11:g.124288212C>T	(Likely) benign	1 lab	3ec52b555b
12:111357012 MYL2 CATCG>C	12	111357012	111357018	CATCG	C	MYL2	c.4-19_4-16del	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111357015_111357018del	(Likely) benign	1 lab	3ec80dc9e5
5:82833369 VCAN A>G	5	82833369	82833369	A	G	VCAN	c.4547A>G	NM_004385.5	NP_004376.2:p.(Lys1516Arg)	NC_000005.9:g.82833369A>G	(Likely) benign	1 lab	3ec8dc87c5
13:19436284 MISSING Ref too long to show for this DEL>C	13	19436284	19813174	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.19436288_19813174del	VUS	1 lab	3ecfe01845
5:151735 MISSING A>Alt too long to show for this DUP	5	151735	232834	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.151737_232834dup	VUS	1 lab	3ed044e358
9:135203652 SETX C>G	9	135203652	135203652	C	G	SETX	c.3333G>C	NM_001351527.2	NP_001338456.1:p.(Leu1111Phe)	NC_000009.11:g.135203652C>G	VUS	1 lab	3ed07b339c
X:135956612 RBMX C>CATAACTCTCA	X	135956612	135956613	C	CATAACTCTCA	RBMX	c.866-2_866-1insTGAGAGTTAT	NM_002139.4	NP_002130.2:p.?	NC_000023.10:g.135956612_135956613insATAACTCTCA	(Likely) benign	1 lab	3ed4e475f1
7:128478478 FLNC C>T	7	128478478	128478478	C	T	FLNC	c.1205C>T	NM_001458.5	NP_001449.3:p.(Thr402Ile)	NC_000007.13:g.128478478C>T	VUS	1 lab	3ed7148707
1:55509520 PCSK9 C>T	1	55509520	55509520	C	T	PCSK9	c.212C>T	NM_174936.4	NP_777596.2:p.(Pro71Leu)	NC_000001.10:g.55509520C>T	(Likely) pathogenic	1 lab	3edc3b71a0
22:42209786 CCDC134 A>T	22	42209786	42209786	A	T	CCDC134	c.524A>T	NM_024821.5	NP_079097.1:p.(Asp175Val)	NC_000022.10:g.42209786A>T	(Likely) benign	1 lab	3edd1da762
7:150654381 KCNH2 G>A	7	150654381	150654381	G	A	KCNH2	c.1126C>T	NM_000238.4	NP_000229.1:p.(Gln376Ter)	NC_000007.13:g.150654381G>A	(Likely) pathogenic	1 lab	3edfe889e7
2:179511301 TTN G>A	2	179511301	179511301	G	A	TTN	c.40223-15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511301G>A	(Likely) benign	1 lab	3edff87b29
19:7506665 ARHGEF18 C>T	19	7506665	7506665	C	T	ARHGEF18	c.1219+14C>T	NM_001367823.1	NP_001354752.1:p.?	NC_000019.9:g.7506665C>T	(Likely) benign	1 lab	3ee1acff0f
9:107547215 ABCA1 A>G	9	107547215	107547215	A	G	ABCA1	c.6645+462T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547215A>G	(Likely) benign	1 lab	3ee600d479
2:179474033 TTN C>T	2	179474033	179474033	C	T	TTN	c.52004G>A	NM_001267550.2	NP_001254479.2:p.(Arg17335His)	NC_000002.11:g.179474033C>T	VUS	1 lab	3ee788ab2e
2:21231373 APOB G>A	2	21231373	21231373	G	A	APOB	c.8367C>T	NM_000384.3	NP_000375.3:p.(Ile2789=)	NC_000002.11:g.21231373G>A	(Likely) benign	1 lab	3ee96a1e44
16:88504640 ZNF469 G>A	16	88504640	88504640	G	A	ZNF469	c.10762G>A	NM_001367624.2	NP_001354553.1:p.(Gly3588Arg)	NC_000016.9:g.88504640G>A	(Likely) benign	1 lab	3eef2dc374
9:139399526 NOTCH1 G>A	9	139399526	139399526	G	A	NOTCH1	c.4617C>T	NM_017617.5	NP_060087.3:p.(His1539=)	NC_000009.11:g.139399526G>A	(Likely) benign	1 lab	3ef3409617
2:179447799 TTN T>C	2	179447799	179447799	T	C	TTN	c.65731A>G	NM_001267550.2	NP_001254479.2:p.(Lys21911Glu)	NC_000002.11:g.179447799T>C	VUS	1 lab	3ef9aab927
16:72140029 DHX38 T>C	16	72140029	72140029	T	C	DHX38	c.2600+13T>C	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72140029T>C	(Likely) benign	1 lab	3efa4ef9f8
19:10904455 DNM2 T>C	19	10904455	10904455	T	C	DNM2	c.1052T>C	NM_001005360.3	NP_001005360.1:p.(Val351Ala)	NC_000019.9:g.10904455T>C	VUS	1 lab	3efc0f6d3d
20:22563025 FOXA2 T>C	20	22563025	22563025	T	C	FOXA2	c.837A>G	NM_153675.3	NP_710141.1:p.(Gly279=)	NC_000020.10:g.22563025T>C	(Likely) benign	1 lab	3efc7a4213
10:12142277 DHTKD1 T>C	10	12142277	12142277	T	C	DHTKD1	c.1756+16T>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142277T>C	(Likely) benign	1 lab	3efd6b7596
10:88428447 LDB3 G>A	10	88428447	88428447	G	A	LDB3	c.-2G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88428447G>A	(Likely) benign	1 lab	3f0276cb5b
11:68700825 IGHMBP2 G>A	11	68700825	68700825	G	A	IGHMBP2	c.1294G>A	NM_002180.3	NP_002171.2:p.(Ala432Thr)	NC_000011.9:g.68700825G>A	(Likely) benign	1 lab	3f02db0067
7:128494045 FLNC G>T	7	128494045	128494045	G	T	FLNC	c.6502G>T	NM_001458.5	NP_001449.3:p.(Val2168Leu)	NC_000007.13:g.128494045G>T	VUS	1 lab	3f0c6d8134
4:9218384 USP17L11 C>A	4	9218384	9218384	C	A	USP17L11	c.1254C>A	NM_001256854.1	NP_001243783.1:p.(Pro418=)	NC_000004.11:g.9218384C>A	(Likely) benign	1 lab	3f10c4533d
2:241702775 KIF1A A>G	2	241702775	241702775	A	G	KIF1A	c.1844-12T>C	NM_001379631.1	NP_001366560.1:p.?	NC_000002.11:g.241702775A>G	(Likely) benign	1 lab	3f10fcf688
2:179450018 TTN G>A	2	179450018	179450018	G	A	TTN	c.56749C>T	NM_133378.4	NP_596869.4:p.(Arg18917Ter)	NC_000002.11:g.179450018G>A	(Likely) pathogenic	1 lab	3f127cc4d3
1:55505670 PCSK9 G>A	1	55505670	55505670	G	A	PCSK9	c.160G>A	NM_174936.4	NP_777596.2:p.(Glu54Lys)	NC_000001.10:g.55505670G>A	VUS	1 lab	3f16204749
20:60740587 SS18L1 CGTGCTGGGCTCGA>C	20	60740587	60740601	CGTGCTGGGCTCGA	C	SS18L1	c.523+19_523+31del	NM_001301778.2	NP_001288707.1:p.?	NC_000020.10:g.60740589_60740601del	(Likely) benign	1 lab	3f1d6b7b05
8:100732560 VPS13B T>A	8	100732560	100732560	T	A	VPS13B	c.6733-13T>A	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100732560T>A	(Likely) benign	1 lab	3f1db32202
13:114426144 GRK1 C>T	13	114426144	114426144	C	T	GRK1	c.1069+14C>T	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114426144C>T	(Likely) benign	1 lab	3f21cb880b
11:110370889 MISSING A>Alt too long to show for this DUP	11	110370889	110477739	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.110370891_110477739dup	VUS	1 lab	3f23929fe5
1:12009520 PLOD1 A>G	1	12009520	12009520	A	G	PLOD1	c.169-310A>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12009520A>G	(Likely) benign	1 lab	3f2954ecd4
9:14307441 NFIB G>A	9	14307441	14307441	G	A	NFIB	c.109C>T	NM_001190737.2	NP_001177666.1:p.(Arg37Ter)	NC_000009.11:g.14307441G>A	(Likely) pathogenic	1 lab	3f2dd9aa44
17:45229254 CDC27 T>G	17	45229254	45229254	T	G	CDC27	c.1006A>C	NM_001114091.4	NP_001107563.1:p.(Lys336Gln)	NC_000017.10:g.45229254T>G	(Likely) benign	1 lab	3f2f51d56c
5:16483442 RETREG1 C>T	5	16483442	16483442	C	T	RETREG1	c.585+13G>A	NM_001034850.3	NP_001030022.1:p.?	NC_000005.9:g.16483442C>T	(Likely) benign	1 lab	3f2fe3586d
1:75010116 MISSING Ref too long to show for this DEL>A	1	75010116	75055448	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.75010117_75055448del	VUS	1 lab	3f370ec5e6
6:123892243 TRDN GCTGT>G	6	123892243	123892249	GCTGT	G	TRDN	c.53_56del	NM_006073.4	NP_006064.2:p.(Asp18AlafsTer14)	NC_000006.11:g.123892246_123892249del	(Likely) pathogenic	1 lab	3f3890be42
2:219503132 ZNF142 AG>A	2	219503132	219503134	AG	A	ZNF142	c.5593del	NM_001366290.3	NP_001353219.1:p.(Leu1865CysfsTer48)	NC_000002.11:g.219503134del	VUS	1 lab	3f3b7f38d3
1:247686395 MISSING Ref too long to show for this DEL>A	1	247686395	248833758	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.247686399_248833758del	VUS	1 lab	3f489ba49e
2:149089323 MBD5 Ref too long to show for this DEL>A	2	149089323	149198284	Ref too long to show for this DEL	A	MBD5	c.-679-10457_-556-17488del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149089326_149198284del	VUS	1 lab	3f53fe70e6
7:128496647 FLNC C>T	7	128496647	128496647	C	T	FLNC	c.7327C>T	NM_001458.5	NP_001449.3:p.(Arg2443Trp)	NC_000007.13:g.128496647C>T	VUS	1 lab	3f553d51aa
2:44050075 ABCG5 C>A	2	44050075	44050075	C	A	ABCG5	c.1325-1G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44050075C>A	(Likely) pathogenic	1 lab	3f554b35f1
15:30913598 MISSING Ref too long to show for this DEL>T	15	30913598	32444113	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30913599_32444113del	(Likely) pathogenic	1 lab	3f5a51413a
12:122261543 SETD1B C>T	12	122261543	122261543	C	T	SETD1B	c.5058C>T	NM_001353345.2	NP_001340274.1:p.(Asn1686=)	NC_000012.11:g.122261543C>T	(Likely) benign	1 lab	3f6258d218
2:180384053 ZNF385B Ref too long to show for this DEL>A	2	180384053	180407119	Ref too long to show for this DEL	A	ZNF385B	c.441+2437_442-689del	NM_152520.6	NP_689733.4:p.?	NC_000002.11:g.180384056_180407119del	VUS	1 lab	3f6abb4870
16:67977820 LCAT G>A	16	67977820	67977820	G	A	LCAT	c.154+31C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977820G>A	(Likely) benign	1 lab	3f6ef790fb
1:43212926 P3H1 G>A	1	43212926	43212926	G	A	P3H1	c.2055+17C>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43212926G>A	(Likely) benign	1 lab	3f76145c07
19:11216016 LDLR T>C	19	11216016	11216016	T	C	LDLR	c.434T>C	NM_000527.5	NP_000518.1:p.(Val145Ala)	NC_000019.9:g.11216016T>C	(Likely) benign	1 lab	3f7bc860d4
22:26860757 HPS4 G>C	22	26860757	26860757	G	C	HPS4	c.839C>G	NM_022081.6	NP_071364.4:p.(Ser280Ter)	NC_000022.10:g.26860757G>C	(Likely) pathogenic	1 lab	3f7f275f93
17:41201180 BRCA1 A>AC	17	41201180	41201182	A	AC	BRCA1	c.5363dup	NM_007294.4	NP_009225.1:p.(Ala1789CysfsTer41)	NC_000017.10:g.41201182dup	(Likely) pathogenic	1 lab	3f7f6efcec
11:86665951 FZD4 G>T	11	86665951	86665951	G	T	FZD4	c.177C>A	NM_012193.4	NP_036325.2:p.(Asn59Lys)	NC_000011.9:g.86665951G>T	VUS	1 lab	3f801005d6
3:195506342 MUC4 T>C	3	195506342	195506342	T	C	MUC4	c.12109A>G	NM_018406.7	NP_060876.5:p.(Ser4037Gly)	NC_000003.11:g.195506342T>C	(Likely) benign	1 lab	3f83d2ba13
10:75864895 VCL G>A	10	75864895	75864895	G	A	VCL	c.2218G>A	NM_014000.3	NP_054706.1:p.(Ala740Thr)	NC_000010.10:g.75864895G>A	VUS	1 lab	3f856aa080
X:79960177 BRWD3 C>A	X	79960177	79960177	C	A	BRWD3	c.2721G>T	NM_153252.5	NP_694984.5:p.(Lys907Asn)	NC_000023.10:g.79960177C>A	VUS	1 lab	3f86b9dcf8
8:67471364 MISSING T>Alt too long to show for this DUP	8	67471364	67531483	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.67471365_67531483dup	VUS	1 lab	3f86c12d92
1:211952391 LPGAT1 G>A	1	211952391	211952391	G	A	LPGAT1	c.728-5C>T	NM_014873.3	NP_055688.1:p.?	NC_000001.10:g.211952391G>A	(Likely) benign	1 lab	3f8e88adfe
11:63398550 ATL3 C>T	11	63398550	63398550	C	T	ATL3	c.1447G>A	NM_001290048.2	NP_001276977.1:p.(Gly483Arg)	NC_000011.9:g.63398550C>T	(Likely) benign	1 lab	3f9b7fa7d7
12:50502886 GPD1 C>G	12	50502886	50502886	C	G	GPD1	c.954-320C>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502886C>G	(Likely) benign	1 lab	3f9ec79e01
4:73149251 ADAMTS3 A>G	4	73149251	73149251	A	G	ADAMTS3	c.3220T>C	NM_014243.3	NP_055058.2:p.(Ser1074Pro)	NC_000004.11:g.73149251A>G	(Likely) benign	1 lab	3fa0e7093e
15:71507565 THSD4 G>A	15	71507565	71507565	G	A	THSD4	c.291G>A	NM_024817.2	NP_079093.2:p.(Ala97=)	NC_000015.9:g.71507565G>A	(Likely) benign	1 lab	3fa2ecdba8
6:162683809 PRKN C>A	6	162683809	162683809	C	A	PRKN	c.172-12G>T	NM_013987.3	NP_054642.2:p.?	NC_000006.11:g.162683809C>A	(Likely) benign	1 lab	3fa57c20a3
3:29165803 MISSING Ref too long to show for this DEL>T	3	29165803	29848781	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.29165804_29848781del	VUS	1 lab	3fa6d248b3
1:214564340 PTPN14 T>C	1	214564340	214564340	T	C	PTPN14	c.978A>G	NM_005401.5	NP_005392.2:p.(Arg326=)	NC_000001.10:g.214564340T>C	(Likely) benign	1 lab	3faa0ab6bd
4:100534210 MTTP C>T	4	100534210	100534210	C	T	MTTP	c.2130C>T	NM_000253.4	NP_000244.2:p.(Tyr710=)	NC_000004.11:g.100534210C>T	(Likely) benign	1 lab	3fab2e6b85
12:32772620 FGD4 C>T	12	32772620	32772620	C	T	FGD4	c.1339-12C>T	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32772620C>T	(Likely) benign	1 lab	3fbb1e60a1
16:1768144 MISSING Ref too long to show for this DEL>A	16	1768144	1836271	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.1768145_1836271del	VUS	1 lab	3fc7d2fc11
9:137707406 COL5A1 T>C	9	137707406	137707406	T	C	COL5A1	c.4015-16T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137707406T>C	(Likely) benign	1 lab	3fc80845d6
5:138324112 SIL1 A>Alt too long to show for this DUP	5	138324112	138398900	A	Alt too long to show for this DUP	SIL1	c.245-12164_767+32747dup	NM_022464.5	NP_071909.1:p.?	NC_000005.9:g.138324114_138398900dup	(Likely) pathogenic	1 lab	3fc9dbe6c7
8:10467634 RP1L1 G>T	8	10467634	10467634	G	T	RP1L1	c.3974C>A	NM_178857.6	NP_849188.4:p.(Thr1325Asn)	NC_000008.10:g.10467634G>T	(Likely) benign	1 lab	3fd1da1925
16:78371497 WWOX Ref too long to show for this DEL>A	16	78371497	78379662	Ref too long to show for this DEL	A	WWOX	c.517-49259_517-41095del	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78371498_78379662del	VUS	1 lab	3fd5dd7737
2:240061386 HDAC4 C>T	2	240061386	240061386	C	T	HDAC4	c.972G>A	NM_006037.4	NP_006028.2:p.(Pro324=)	NC_000002.11:g.240061386C>T	(Likely) benign	1 lab	3fd74d4af9
1:6537599 PLEKHG5 A>G	1	6537599	6537599	A	G	PLEKHG5	c.33T>C	NM_198681.4	NP_941374.3:p.(Leu11=)	NC_000001.10:g.6537599A>G	(Likely) benign	1 lab	3fd7cfa7bb
10:12139884 DHTKD1 C>T	10	12139884	12139884	C	T	DHTKD1	c.1560C>T	NM_018706.7	NP_061176.4:p.(Thr520=)	NC_000010.10:g.12139884C>T	(Likely) benign	1 lab	3fdfaccfbd
1:3329283 PRDM16 A>C	1	3329283	3329283	A	C	PRDM16	c.2522A>C	NM_022114.4	NP_071397.3:p.(Gln841Pro)	NC_000001.10:g.3329283A>C	VUS	1 lab	3fe24d3d24
7:94039563 COL1A2 G>T	7	94039563	94039563	G	T	COL1A2	c.1045G>T	NM_000089.4	NP_000080.2:p.(Gly349Cys)	NC_000007.13:g.94039563G>T	(Likely) pathogenic	1 lab	3fe6d28d03
16:2105541 TSC2 C>G	16	2105541	2105541	C	G	TSC2	c.599+21C>G	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2105541C>G	(Likely) benign	1 lab	3fe7c67d92
8:42323430 SLC20A2 C>T	8	42323430	42323430	C	T	SLC20A2	c.295G>A	NM_001257180.2	NP_001244109.1:p.(Ala99Thr)	NC_000008.10:g.42323430C>T	VUS	1 lab	3fed103438
5:149510087 PDGFRB C>T	5	149510087	149510087	C	T	PDGFRB	c.1367+15G>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149510087C>T	(Likely) benign	1 lab	3ff74cf31f
4:186611549 SORBS2 Ref too long to show for this DEL>G	4	186611549	186645121	Ref too long to show for this DEL	G	SORBS2	c.-41+10133_10+166del	NM_001395207.1	NP_001382136.1:p.?	NC_000004.11:g.186611551_186645121del	VUS	1 lab	3ff950113a
2:179445158 TTN G>A	2	179445158	179445158	G	A	TTN	c.66948C>T	NM_001267550.2	NP_001254479.2:p.(Asp22316=)	NC_000002.11:g.179445158G>A	(Likely) benign	1 lab	3ffc72193c
1:94473266 ABCA4 C>T	1	94473266	94473266	C	T	ABCA4	c.5929G>A	NM_000350.3	NP_000341.2:p.(Gly1977Ser)	NC_000001.10:g.94473266C>T	(Likely) pathogenic	1 lab	400565aadd
14:103541540 MISSING Ref too long to show for this DEL>G	14	103541540	106329074	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.103541544_106329074del	(Likely) pathogenic	1 lab	400842b8e6
2:234238171 SAG C>T	2	234238171	234238171	C	T	SAG	c.681C>T	NM_000541.5	NP_000532.2:p.(Thr227=)	NC_000002.11:g.234238171C>T	(Likely) benign	1 lab	400d09daad
2:1926404 MYT1L C>A	2	1926404	1926404	C	A	MYT1L	c.1137G>T	NM_001303052.2	NP_001289981.1:p.(Met379Ile)	NC_000002.11:g.1926404C>A	VUS	1 lab	400e894579
X:153461539 OPN1MW C>T	X	153461539	153461539	C	T	OPN1MW	c.*8C>T	NM_000513.2	NP_000504.1:p.?	NC_000023.10:g.153461539C>T	(Likely) benign	1 lab	40106c43a9
14:73384156 MISSING G>Alt too long to show for this DUP	14	73384156	73453618	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.73384157_73453618dup	VUS	1 lab	4011a2b4c7
18:47113188 LIPG T>G	18	47113188	47113188	T	G	LIPG	c.1449T>G	NM_006033.4	NP_006024.1:p.(Cys483Trp)	NC_000018.9:g.47113188T>G	VUS	1 lab	4014c8cba1
1:94510271 ABCA4 G>A	1	94510271	94510271	G	A	ABCA4	c.2948C>T	NM_000350.3	NP_000341.2:p.(Thr983Ile)	NC_000001.10:g.94510271G>A	(Likely) pathogenic	1 lab	40151b659a
6:76715123 IMPG1 G>T	6	76715123	76715123	G	T	IMPG1	c.1016C>A	NM_001563.4	NP_001554.2:p.(Thr339Asn)	NC_000006.11:g.76715123G>T	VUS	1 lab	401797ff02
6:56391375 DST T>C	6	56391375	56391375	T	C	DST	c.11566-10A>G	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56391375T>C	(Likely) benign	1 lab	4019a4b272
16:15810991 MYH11 G>T	16	15810991	15810991	G	T	MYH11	c.5504+6C>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15810991G>T	(Likely) benign	1 lab	4019dcc392
1:43831228 ELOVL1 G>A	1	43831228	43831228	G	A	ELOVL1	c.46+7C>T	NM_001256399.2	NP_001243328.1:p.?	NC_000001.10:g.43831228G>A	(Likely) benign	1 lab	4026426dcd
17:39976733 FKBP10 G>A	17	39976733	39976733	G	A	FKBP10	c.1256+20G>A	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976733G>A	(Likely) benign	1 lab	4028e2c871
7:150648767 KCNH2 C>A	7	150648767	150648767	C	A	KCNH2	c.1714G>T	NM_000238.4	NP_000229.1:p.(Gly572Cys)	NC_000007.13:g.150648767C>A	(Likely) pathogenic	1 lab	403140a5db
2:44102444 ABCG8 G>A	2	44102444	44102444	G	A	ABCG8	c.1648G>A	NM_022437.3	NP_071882.1:p.(Ala550Thr)	NC_000002.11:g.44102444G>A	(Likely) pathogenic	1 lab	4034dee2de
2:212518144 ERBB4 Ref too long to show for this DEL>A	2	212518144	212529199	Ref too long to show for this DEL	A	ERBB4	c.1871+849_1946+4334del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212518145_212529199del	VUS	1 lab	403606e34a
12:41570618 MISSING Ref too long to show for this DEL>A	12	41570618	41600099	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.41570620_41600099del	VUS	1 lab	4038398fc2
3:162171169 MISSING Ref too long to show for this DEL>G	3	162171169	163179425	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.162171172_163179425del	VUS	1 lab	403b4eb943
6:32017161 TNXB C>T	6	32017161	32017161	C	T	TNXB	c.9637G>A	NM_019105.8	NP_061978.6:p.(Glu3213Lys)	NC_000006.11:g.32017161C>T	(Likely) benign	1 lab	403cc0c70c
16:1020924 LMF1 C>G	16	1020924	1020924	C	G	LMF1	c.57G>C	NM_022773.4	NP_073610.2:p.(Lys19Asn)	NC_000016.9:g.1020924C>G	(Likely) benign	1 lab	40409f2cc8
2:21225613 APOB T>G	2	21225613	21225613	T	G	APOB	c.12681A>C	NM_000384.3	NP_000375.3:p.(Val4227=)	NC_000002.11:g.21225613T>G	(Likely) benign	1 lab	40444b7bdc
11:108592424 DDX10 Ref too long to show for this DEL>G	11	108592424	108605206	Ref too long to show for this DEL	G	DDX10	c.1500-1299_1965+11017del	NM_004398.4	NP_004389.2:p.?	NC_000011.9:g.108592425_108605206del	VUS	1 lab	40454e0b3e
11:46723172 ZNF408 A>G	11	46723172	46723172	A	G	ZNF408	c.252A>G	NM_001184751.2	NP_001171680.1:p.(Glu84=)	NC_000011.9:g.46723172A>G	(Likely) benign	1 lab	4047ac220d
12:112940054 PTPN11 G>A	12	112940054	112940054	G	A	PTPN11	c.1706G>A	NM_002834.5	NP_002825.3:p.(Cys569Tyr)	NC_000012.11:g.112940054G>A	VUS	1 lab	404885a366
10:112540715 RBM20 C>T	10	112540715	112540715	C	T	RBM20	c.348C>T	NM_001134363.3	NP_001127835.2:p.(Ala116=)	NC_000010.10:g.112540715C>T	(Likely) benign	1 lab	40489f26c7
15:89871712 POLG G>A	15	89871712	89871712	G	A	POLG	c.1225C>T	NM_002693.3	NP_002684.1:p.(Gln409Ter)	NC_000015.9:g.89871712G>A	(Likely) pathogenic	1 lab	40497af532
12:125271050 SCARB1 C>G	12	125271050	125271050	C	G	SCARB1	c.1255-1G>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125271050C>G	VUS	1 lab	404a91a89c
2:96949036 SNRNP200 G>A	2	96949036	96949036	G	A	SNRNP200	c.4818C>T	NM_014014.5	NP_054733.2:p.(Asp1606=)	NC_000002.11:g.96949036G>A	(Likely) benign	1 lab	4051a84246
15:48797374 FBN1 T>C	15	48797374	48797374	T	C	FBN1	c.1838-30A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48797374T>C	VUS	1 lab	40568ba9b6
3:100972610 IMPG2 C>T	3	100972610	100972610	C	T	IMPG2	c.1169G>A	NM_016247.4	NP_057331.2:p.(Arg390His)	NC_000003.11:g.100972610C>T	(Likely) benign	1 lab	4056fea71d
11:6646500 DCHS1 G>A	11	6646500	6646500	G	A	DCHS1	c.7075C>T	NM_003737.4	NP_003728.1:p.(Arg2359Cys)	NC_000011.9:g.6646500G>A	(Likely) benign	1 lab	405a7754ef
9:95491381 BICD2 C>T	9	95491381	95491381	C	T	BICD2	c.378G>A	NM_001003800.2	NP_001003800.1:p.(Lys126=)	NC_000009.11:g.95491381C>T	(Likely) benign	1 lab	405bf478bc
19:33954893 PEPD C>CTCACGGTGGGCCT	19	33954893	33954906	C	CTCACGGTGGGCCT	PEPD	c.611_623dup	NM_000285.4	NP_000276.2:p.(Val209GlyfsTer4)	NC_000019.9:g.33954894_33954906dup	(Likely) pathogenic	1 lab	405f9052c9
12:125271978 SCARB1 C>G	12	125271978	125271978	C	G	SCARB1	c.1228G>C	NM_005505.5	NP_005496.4:p.(Val410Leu)	NC_000012.11:g.125271978C>G	VUS	1 lab	40620629e3
6:80201306 LCA5 A>G	6	80201306	80201306	A	G	LCA5	c.1097T>C	NM_181714.4	NP_859065.2:p.(Leu366Ser)	NC_000006.11:g.80201306A>G	VUS	1 lab	4067813276
11:78239873 MISSING A>Alt too long to show for this DUP	11	78239873	78364553	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.78239874_78364553dup	VUS	1 lab	40678d8946
11:47367209 MYBPC3 G>T	11	47367209	47367209	G	T	MYBPC3	c.1090+549C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367209G>T	(Likely) benign	1 lab	406ebd657d
7:92134161 PEX1 CA>C	7	92134161	92134162	CA	C	PEX1	c.1331del	NM_001282678.2	NP_001269607.1:p.(Val444GlyfsTer41)	NC_000007.13:g.92134162del	(Likely) pathogenic	1 lab	40702abc5b
3:193349389 OPA1 T>A	3	193349389	193349389	T	A	OPA1	c.790-12T>A	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193349389T>A	(Likely) benign	1 lab	407d1d9436
16:23641527 PALB2 C>A	16	23641527	23641527	C	A	PALB2	c.1948G>T	NM_024675.4	NP_078951.2:p.(Glu650Ter)	NC_000016.9:g.23641527C>A	(Likely) pathogenic	1 lab	4085202464
6:123658798 TRDN T>G	6	123658798	123658798	T	G	TRDN	c.1386A>C	NM_006073.4	NP_006064.2:p.(Lys462Asn)	NC_000006.11:g.123658798T>G	VUS	1 lab	40864d7984
1:155629919 YY1AP1 C>T	1	155629919	155629919	C	T	YY1AP1	c.2196G>A	NM_001198903.1	NP_001185832.1:p.(Leu732=)	NC_000001.10:g.155629919C>T	(Likely) benign	1 lab	408a1e0b25
17:41245524 BRCA1 GCAGGTT>G	17	41245524	41245531	GCAGGTT	G	BRCA1	c.2018_2023del	NM_007294.4	NP_009225.1:p.(Glu673_Pro674del)	NC_000017.10:g.41245526_41245531del	VUS	1 lab	408a50dd6a
4:100502747 MTTP T>C	4	100502747	100502747	T	C	MTTP	c.62-315T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100502747T>C	(Likely) benign	1 lab	408e4963b8
X:109309515 TMEM164 Ref too long to show for this DEL>A	X	109309515	109333435	Ref too long to show for this DEL	A	TMEM164	c.391-1057_441-18873del	NM_032227.4	NP_115603.2:p.?	NC_000023.10:g.109309518_109333435del	VUS	1 lab	4091440aeb
11:75902685 WNT11 C>T	11	75902685	75902685	C	T	WNT11	c.813G>A	NM_004626.3	NP_004617.2:p.(Ser271=)	NC_000011.9:g.75902685C>T	(Likely) benign	1 lab	40959cacd0
11:19209853 CSRP3 T>C	11	19209853	19209853	T	C	CSRP3	c.113-2A>G	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19209853T>C	VUS	1 lab	4097f9c085
4:128878750 MFSD8 AG>A	4	128878750	128878752	AG	A	MFSD8	c.63-4del	NM_152778.3	NP_689991.1:p.?	NC_000004.11:g.128878752del	(Likely) benign	1 lab	409c112b00
1:156851377 NTRK1 C>T	1	156851377	156851377	C	T	NTRK1	c.2334C>T	NM_002529.4	NP_002520.2:p.(His778=)	NC_000001.10:g.156851377C>T	(Likely) benign	1 lab	409cc31247
11:116661517 APOA5 CG>C	11	116661517	116661518	CG	C	APOA5	c.427del	NM_052968.5	NP_443200.2:p.(Arg143AlafsTer57)	NC_000011.9:g.116661518del	(Likely) pathogenic	1 lab	40a1bbdac0
9:32542016 TOPORS T>C	9	32542016	32542016	T	C	TOPORS	c.2507A>G	NM_005802.5	NP_005793.2:p.(Tyr836Cys)	NC_000009.11:g.32542016T>C	(Likely) benign	1 lab	40a6467e54
18:47108044 LIPG G>A	18	47108044	47108044	G	A	LIPG	c.1036+17G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108044G>A	(Likely) benign	1 lab	40af2f0338
14:23282435 SLC7A7 G>T	14	23282435	23282435	G	T	SLC7A7	c.173C>A	NM_001126106.4	NP_001119578.1:p.(Ser58Tyr)	NC_000014.8:g.23282435G>T	(Likely) pathogenic	1 lab	40b1ed9e9c
15:48826325 FBN1 T>G	15	48826325	48826325	T	G	FBN1	c.814A>C	NM_000138.5	NP_000129.3:p.(Lys272Gln)	NC_000015.9:g.48826325T>G	VUS	1 lab	40b94c237c
11:102201848 BIRC3 G>A	11	102201848	102201848	G	A	BIRC3	c.1200G>A	NM_001165.5	NP_001156.1:p.(Gln400=)	NC_000011.9:g.102201848G>A	(Likely) benign	1 lab	40bc0b8e9c
10:88659672 BMPR1A G>A	10	88659672	88659672	G	A	BMPR1A	c.430+25G>A	NM_004329.3	NP_004320.2:p.?	NC_000010.10:g.88659672G>A	(Likely) benign	1 lab	40c5708d86
14:91804898 CCDC88C G>C	14	91804898	91804898	G	C	CCDC88C	c.826C>G	NM_001080414.4	NP_001073883.2:p.(Gln276Glu)	NC_000014.8:g.91804898G>C	(Likely) benign	1 lab	40c96184de
16:88807878 PIEZO1 G>A	16	88807878	88807878	G	A	PIEZO1	c.465+8C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88807878G>A	(Likely) benign	1 lab	40cca408f4
18:47101752 LIPG C>T	18	47101752	47101752	C	T	LIPG	c.585C>T	NM_006033.4	NP_006024.1:p.(Ala195=)	NC_000018.9:g.47101752C>T	(Likely) benign	1 lab	40cd84db71
17:589499 MISSING A>Alt too long to show for this DUP	17	589499	1165473	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.589500_1165473dup	VUS	1 lab	40d1d80629
14:23883283 MYH7 C>T	14	23883283	23883283	C	T	MYH7	c.5588G>A	NM_000257.4	NP_000248.2:p.(Arg1863Gln)	NC_000014.8:g.23883283C>T	VUS	1 lab	40d5257a5f
12:21355489 SLCO1B1 C>G	12	21355489	21355489	C	G	SLCO1B1	c.1200C>G	NM_006446.5	NP_006437.3:p.(Phe400Leu)	NC_000012.11:g.21355489C>G	(Likely) benign	1 lab	40d9087f8a
12:123738341 MTRFR G>A	12	123738341	123738341	G	A	MTRFR	c.120G>A	NM_001194995.1	NP_001181924.1:p.(Pro40=)	NC_000012.11:g.123738341G>A	(Likely) benign	1 lab	40d98e766c
8:10468685 RP1L1 A>T	8	10468685	10468685	A	T	RP1L1	c.2923T>A	NM_178857.6	NP_849188.4:p.(Leu975Met)	NC_000008.10:g.10468685A>T	(Likely) benign	1 lab	40ea825c66
11:108214098 ATM GGTGA>G	11	108214098	108214106	GGTGA	G	ATM	c.8418+5_8418+8del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108214103_108214106del	(Likely) pathogenic	1 lab	40ee0d8aeb
1:78383683 NEXN A>G	1	78383683	78383683	A	G	NEXN	c.258A>G	NM_144573.4	NP_653174.3:p.(Val86=)	NC_000001.10:g.78383683A>G	(Likely) benign	1 lab	40ef63d7c3
4:72316230 SLC4A4 C>T	4	72316230	72316230	C	T	SLC4A4	c.1046C>T	NM_003759.4	NP_003750.1:p.(Pro349Leu)	NC_000004.11:g.72316230C>T	VUS	1 lab	40f14f32c2
Y:24073793 MISSING Ref too long to show for this DEL>T	Y	24073793	24892407	Ref too long to show for this DEL	T	MISSING				NC_000024.9:g.24073795_24892407del	VUS	1 lab	4149119ba2
14:47382247 MDGA2 T>Alt too long to show for this DUP	14	47382247	47412542	T	Alt too long to show for this DUP	MDGA2	c.2089+14035_2238+6967dup	NM_001113498.3	NP_001106970.4:p.?	NC_000014.8:g.47382248_47412542dup	VUS	1 lab	40f1ec9c37
10:48382022 RBP3 C>A	10	48382022	48382022	C	A	RBP3	c.3627G>T	NM_002900.3	NP_002891.1:p.(Val1209=)	NC_000010.10:g.48382022C>A	(Likely) benign	1 lab	40f76fa884
3:38618259 SCN5A C>T	3	38618259	38618259	C	T	SCN5A	c.3404G>A	NM_198056.3	NP_932173.1:p.(Ser1135Asn)	NC_000003.11:g.38618259C>T	VUS	1 lab	40f90ebdb6
15:58860702 LIPC T>A	15	58860702	58860702	T	A	LIPC	c.1389-213T>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58860702T>A	(Likely) benign	1 lab	40facbada7
19:55316335 KIR2DL4 G>T	19	55316335	55316335	G	T	KIR2DL4	c.164G>T	NM_001080772.2	NP_001074241.1:p.(Arg55Leu)	NC_000019.9:g.55316335G>T	(Likely) benign	1 lab	40fc16beed
1:55525315 PCSK9 C>G	1	55525315	55525315	C	G	PCSK9	c.1660C>G	NM_174936.4	NP_777596.2:p.(Gln554Glu)	NC_000001.10:g.55525315C>G	VUS	1 lab	40fcdc2896
14:23884193 MYH7 G>A	14	23884193	23884193	G	A	MYH7	c.5559+11C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23884193G>A	(Likely) benign	1 lab	41017b4b3e
8:10474037 RP1L1 C>T	8	10474037	10474037	C	T	RP1L1	c.670G>A	NM_178857.6	NP_849188.4:p.(Ala224Thr)	NC_000008.10:g.10474037C>T	(Likely) benign	1 lab	4107889f5f
18:9264470 MISSING C>Alt too long to show for this DUP	18	9264470	9550459	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.9264472_9550459dup	VUS	1 lab	410d7cc00a
7:134220596 MISSING G>Alt too long to show for this DUP	7	134220596	134264118	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.134220597_134264118dup	VUS	1 lab	4110d65440
17:45221317 CDC27 T>C	17	45221317	45221317	T	C	CDC27	c.1120A>G	NM_001114091.4	NP_001107563.1:p.(Thr374Ala)	NC_000017.10:g.45221317T>C	(Likely) benign	1 lab	4113bb5ac9
1:20411347 PLA2G5 T>C	1	20411347	20411347	T	C	PLA2G5	c.24T>C	NM_000929.3	NP_000920.1:p.(Ala8=)	NC_000001.10:g.20411347T>C	(Likely) benign	1 lab	41163ee6ce
1:152192219 HRNR G>C	1	152192219	152192219	G	C	HRNR	c.1886C>G	NM_001009931.3	NP_001009931.1:p.(Thr629Ser)	NC_000001.10:g.152192219G>C	(Likely) benign	1 lab	4116e75b63
4:128002108 MISSING A>Alt too long to show for this DUP	4	128002108	128570161	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.128002109_128570161dup	VUS	1 lab	4117699169
10:124266306 HTRA1 A>G	10	124266306	124266306	A	G	HTRA1	c.877A>G	NM_002775.5	NP_002766.1:p.(Thr293Ala)	NC_000010.10:g.124266306A>G	VUS	1 lab	4118159494
22:21713010 MISSING Ref too long to show for this DEL>G	22	21713010	22971898	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.21713012_22971898del	(Likely) pathogenic	1 lab	41189b9363
16:68867227 CDH1 C>T	16	68867227	68867227	C	T	CDH1	c.2474C>T	NM_004360.5	NP_004351.1:p.(Pro825Leu)	NC_000016.9:g.68867227C>T	VUS	1 lab	411a63a555
2:179416915 TTN T>TC	2	179416915	179416916	T	TC	TTN	c.90711_90712insG	NM_001267550.2	NP_001254479.2:p.(Lys30238GlufsTer3)	NC_000002.11:g.179416915_179416916insC	(Likely) pathogenic	1 lab	411ddaacaa
1:236924732 ACTN2 CGT>C	1	236924732	236924758	CGT	C	ACTN2	c.2526+284_2526+285del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924757_236924758del	(Likely) benign	1 lab	41260e3411
11:118373911 KMT2A C>G	11	118373911	118373911	C	G	KMT2A	c.7304C>G	NM_001197104.2	NP_001184033.1:p.(Ser2435Cys)	NC_000011.9:g.118373911C>G	(Likely) benign	1 lab	41288e698c
8:67973949 CSPP1 T>Alt too long to show for this DUP	8	67973949	68065235	T	Alt too long to show for this DUP	CSPP1				NC_000008.10:g.67973952_68065235dup	VUS	1 lab	41292192aa
X:9660150 TBL1X T>C	X	9660150	9660150	T	C	TBL1X	c.750-3T>C	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9660150T>C	(Likely) benign	1 lab	41398f12b6
10:119003615 SLC18A2 G>A	10	119003615	119003615	G	A	SLC18A2	c.255G>A	NM_003054.6	NP_003045.2:p.(Ser85=)	NC_000010.10:g.119003615G>A	(Likely) benign	1 lab	4144e7b6af
19:45450928 APOC2 T>C	19	45450928	45450928	T	C	APOC2	c.-13-795T>C	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45450928T>C	(Likely) benign	1 lab	414736189b
9:100616595 FOXE1 G>A	9	100616595	100616595	G	A	FOXE1	c.399G>A	NM_004473.4	NP_004464.2:p.(Ala133=)	NC_000009.11:g.100616595G>A	(Likely) benign	1 lab	4147c72389
X:31686821 DMD Ref too long to show for this DEL>A	X	31686821	31798880	Ref too long to show for this DEL	A	DMD	c.7310-6571_7873-10561del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31686822_31798880del	(Likely) pathogenic	1 lab	41483111d5
7:75651313 STYXL1 T>TA	7	75651313	75651324	T	TA	STYXL1	c.166-4dup	NM_016086.3	NP_057170.1:p.?	NC_000007.13:g.75651324dup	(Likely) benign	1 lab	414aaeb2d0
20:13074236 SPTLC3 T>C	20	13074236	13074236	T	C	SPTLC3	c.826+12T>C	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13074236T>C	(Likely) benign	1 lab	414bc89487
1:45293261 PTCH2 G>A	1	45293261	45293261	G	A	PTCH2	c.2184C>T	NM_003738.5	NP_003729.3:p.(Ser728=)	NC_000001.10:g.45293261G>A	(Likely) benign	1 lab	414cd6dd95
14:73640381 PSEN1 T>C	14	73640381	73640381	T	C	PSEN1	c.446T>C	NM_000021.4	NP_000012.1:p.(Leu149Pro)	NC_000014.8:g.73640381T>C	VUS	1 lab	414f16fae6
15:31197266 FAN1 G>A	15	31197266	31197266	G	A	FAN1	c.400G>A	NM_014967.5	NP_055782.3:p.(Val134Met)	NC_000015.9:g.31197266G>A	VUS	1 lab	41500e17ec
12:124288264 DNAH10 G>A	12	124288264	124288264	G	A	DNAH10	c.2317G>A	NM_207437.3	NP_997320.2:p.(Val773Ile)	NC_000012.11:g.124288264G>A	(Likely) benign	1 lab	4152aeb6e9
8:10466873 RP1L1 G>GCTT	8	10466873	10466878	G	GCTT	RP1L1	c.4732_4734dup	NM_178857.6	NP_849188.4:p.(Lys1578dup)	NC_000008.10:g.10466876_10466878dup	(Likely) benign	1 lab	4152ba9a66
5:127697348 FBN2 T>A	5	127697348	127697348	T	A	FBN2	c.2554+68A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127697348T>A	(Likely) benign	1 lab	415450d343
X:153582374 FLNA A>Alt too long to show for this DUP	X	153582374	153588659	A	Alt too long to show for this DUP	FLNA	c.3504_5594dup	NM_001110556.2	NP_001104026.1:p.(Leu1170_Gly1866dup)	NC_000023.10:g.153582375_153588659dup	VUS	1 lab	415658306f
12:57894221 MARS1 C>T	12	57894221	57894221	C	T	MARS1	c.1209C>T	NM_004990.4	NP_004981.2:p.(Gly403=)	NC_000012.11:g.57894221C>T	(Likely) benign	1 lab	41586d82c5
7:90419843 CDK14 T>Alt too long to show for this DUP	7	90419843	90457707	T	Alt too long to show for this DUP	CDK14	c.465-43_545-34783dup	NM_001287135.2	NP_001274064.1:p.?	NC_000007.13:g.90419845_90457707dup	VUS	1 lab	415ef365b3
2:38295086 MISSING Ref too long to show for this DEL>C	2	38295086	38347305	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.38295087_38347305del	(Likely) pathogenic	1 lab	416081c78d
9:123223026 CDK5RAP2 CT>C	9	123223026	123223037	CT	C	CDK5RAP2	c.2107-82del	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123223037del	(Likely) benign	1 lab	4163079aac
19:11216067 LDLR C>G	19	11216067	11216067	C	G	LDLR	c.485C>G	NM_000527.5	NP_000518.1:p.(Pro162Arg)	NC_000019.9:g.11216067C>G	VUS	1 lab	416599339a
1:43215508 P3H1 G>C	1	43215508	43215508	G	C	P3H1	c.1720+349C>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43215508G>C	(Likely) benign	1 lab	4165b1531d
2:1499985 TPO C>T	2	1499985	1499985	C	T	TPO	c.2215+16C>T	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1499985C>T	(Likely) benign	1 lab	416bf22292
11:13351447 BMAL1 A>Alt too long to show for this DUP	11	13351447	13398608	A	Alt too long to show for this DUP	BMAL1	c.-135+3436_1414+333dup	NM_001297719.2	NP_001284648.1:p.?	NC_000011.9:g.13351450_13398608dup	VUS	1 lab	4172ee489c
1:207642050 CR2 C>G	1	207642050	207642050	C	G	CR2	c.624C>G	NM_001006658.3	NP_001006659.1:p.(Pro208=)	NC_000001.10:g.207642050C>G	(Likely) benign	1 lab	417936cc0f
7:151372633 PRKAG2 C>T	7	151372633	151372633	C	T	PRKAG2	c.557G>A	NM_016203.4	NP_057287.2:p.(Arg186Gln)	NC_000007.13:g.151372633C>T	VUS	1 lab	417b743014
12:2778219 CACNA1C C>A	12	2778219	2778219	C	A	CACNA1C	c.4870+18C>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2778219C>A	(Likely) benign	1 lab	417dbe8345
5:27012530 MISSING Ref too long to show for this DEL>T	5	27012530	27072933	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.27012531_27072933del	VUS	1 lab	417e249583
16:75665679 KARS1 C>G	16	75665679	75665679	C	G	KARS1	c.1074G>C	NM_001130089.2	NP_001123561.1:p.(Thr358=)	NC_000016.9:g.75665679C>G	(Likely) benign	1 lab	417e30fa08
2:198266711 SF3B1 T>G	2	198266711	198266711	T	G	SF3B1	c.2221A>C	NM_012433.4	NP_036565.2:p.(Lys741Gln)	NC_000002.11:g.198266711T>G	VUS	1 lab	417f62020c
8:19809261 LPL C>T	8	19809261	19809261	C	T	LPL	c.250-19C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809261C>T	(Likely) benign	1 lab	4181ef54a5
3:30713945 TGFBR2 T>C	3	30713945	30713945	T	C	TGFBR2	c.1329+16T>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30713945T>C	(Likely) benign	1 lab	418442e0e2
9:95481393 BICD2 C>G	9	95481393	95481393	C	G	BICD2	c.1534G>C	NM_001003800.2	NP_001003800.1:p.(Val512Leu)	NC_000009.11:g.95481393C>G	VUS	1 lab	41887c4960
2:179475068 TTN C>T	2	179475068	179475068	C	T	TTN	c.51185G>A	NM_001267550.2	NP_001254479.2:p.(Ser17062Asn)	NC_000002.11:g.179475068C>T	VUS	1 lab	4188fd20be
19:45412000 APOE G>C	19	45412000	45412000	G	C	APOE	c.525G>C	NM_001302688.2	NP_001289617.1:p.(Glu175Asp)	NC_000019.9:g.45412000G>C	VUS	1 lab	418d687632
16:8891471 PMM2 T>C	16	8891471	8891471	T	C	PMM2				NC_000016.9:g.8891471T>C	(Likely) benign	1 lab	41e66068a3
2:44041706 ABCG5 G>C	2	44041706	44041706	G	C	ABCG5	c.1672C>G	NM_022436.3	NP_071881.1:p.(Pro558Ala)	NC_000002.11:g.44041706G>C	VUS	1 lab	419a08846b
12:125270957 SCARB1 C>A	12	125270957	125270957	C	A	SCARB1	c.1347G>T	NM_001367981.1	NP_001354910.1:p.(Leu449=)	NC_000012.11:g.125270957C>A	(Likely) benign	1 lab	419bb15fbf
2:44078978 ABCG8 A>C	2	44078978	44078978	A	C	ABCG8	c.561+17A>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44078978A>C	(Likely) benign	1 lab	419d444b11
11:44253966 EXT2 G>A	11	44253966	44253966	G	A	EXT2	c.1825G>A	NM_000401.3	NP_000392.3:p.(Glu609Lys)	NC_000011.9:g.44253966G>A	(Likely) benign	1 lab	41a4419207
3:38597247 SCN5A C>G	3	38597247	38597247	C	G	SCN5A	c.4442G>C	NM_198056.3	NP_932173.1:p.(Gly1481Ala)	NC_000003.11:g.38597247C>G	VUS	1 lab	41a7a73a59
2:21227248 APOB T>C	2	21227248	21227248	T	C	APOB	c.11980A>G	NM_000384.3	NP_000375.3:p.(Lys3994Glu)	NC_000002.11:g.21227248T>C	VUS	1 lab	41ac460dbe
7:130399506 MISSING G>Alt too long to show for this DUP	7	130399506	130530704	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.130399507_130530704dup	VUS	1 lab	41b266a207
7:138603106 KIAA1549 C>T	7	138603106	138603106	C	T	KIAA1549	c.1266G>A	NM_001164665.2	NP_001158137.1:p.(Ala422=)	NC_000007.13:g.138603106C>T	(Likely) benign	1 lab	41b4250412
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAAAAAA	SAR1B	c.244+28_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948350_133948371dup	(Likely) benign	1 lab	41b55b2805
3:188518433 LPP A>Alt too long to show for this DUP	3	188518433	188572549	A	Alt too long to show for this DUP	LPP	c.1410+40367_1411-11439dup	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.188518437_188572549dup	VUS	1 lab	41b8d73c85
22:26860080 HPS4 G>C	22	26860080	26860080	G	C	HPS4	c.1516C>G	NM_022081.6	NP_071364.4:p.(Leu506Val)	NC_000022.10:g.26860080G>C	VUS	1 lab	41bd53dab1
X:2667869 XG Ref too long to show for this DEL>A	X	2667869	2674172	Ref too long to show for this DEL	A	XG				NC_000023.10:g.2667871_2674172del	VUS	1 lab	41bd8413b3
X:63978578 MISSING Ref too long to show for this DEL>T	X	63978578	70835118	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.63978579_70835118del	(Likely) pathogenic	1 lab	41c23a0fbc
12:112037000 ATXN2 G>C	12	112037000	112037000	G	C	ATXN2	c.-162C>G	NM_002973.4	NP_002964.4:p.?	NC_000012.11:g.112037000G>C	(Likely) benign	1 lab	41c25bbfd7
2:176982325 HOXD10 G>A	2	176982325	176982325	G	A	HOXD10	c.745+19G>A	NM_002148.4	NP_002139.2:p.?	NC_000002.11:g.176982325G>A	(Likely) benign	1 lab	41c60958c4
12:88456570 CEP290 G>A	12	88456570	88456570	G	A	CEP290	c.6271-15C>T	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88456570G>A	(Likely) benign	1 lab	41c722a001
12:125270830 SCARB1 G>A	12	125270830	125270830	G	A	SCARB1	c.1474C>T	NM_001367981.1	NP_001354910.1:p.(Arg492Trp)	NC_000012.11:g.125270830G>A	VUS	1 lab	41c79ed9e6
11:129812492 PRDM10 C>A	11	129812492	129812492	C	A	PRDM10	c.795G>T	NM_020228.3	NP_064613.2:p.(Arg265Ser)	NC_000011.9:g.129812492C>A	VUS	1 lab	41c7f87f93
1:10659333 PEX14 T>G	1	10659333	10659333	T	G	PEX14	c.208T>G	NM_004565.3	NP_004556.1:p.(Ser70Ala)	NC_000001.10:g.10659333T>G	(Likely) benign	1 lab	41d04b76d7
2:189849419 COL3A1 C>T	2	189849419	189849419	C	T	COL3A1	c.80-67C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189849419C>T	(Likely) benign	1 lab	41d98ac5c9
2:60689489 BCL11A C>A	2	60689489	60689489	C	A	BCL11A	c.558G>T	NM_022893.4	NP_075044.2:p.(Leu186Phe)	NC_000002.11:g.60689489C>A	(Likely) pathogenic	1 lab	41daf8f31c
12:2614124 CACNA1C A>G	12	2614124	2614124	A	G	CACNA1C	c.1217+13A>G	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2614124A>G	(Likely) benign	1 lab	41dccb5916
19:11218160 LDLR G>A	19	11218160	11218160	G	A	LDLR	c.910G>A	NM_000527.5	NP_000518.1:p.(Asp304Asn)	NC_000019.9:g.11218160G>A	(Likely) pathogenic	1 lab	41dd1ffa46
19:11228145 LDLR C>CTT	19	11228145	11228156	C	CTT	LDLR	c.1845+481_1845+482dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228155_11228156dup	(Likely) benign	1 lab	41de53599f
15:85360086 ALPK3 G>A	15	85360086	85360086	G	A	ALPK3				NC_000015.9:g.85360086G>A	(Likely) benign	1 lab	41dfbd0d8a
2:179462740 TTN A>C	2	179462740	179462740	A	C	TTN	c.57157T>G	NM_001267550.2	NP_001254479.2:p.(Leu19053Val)	NC_000002.11:g.179462740A>C	VUS	1 lab	41e17da4bd
12:125271678 SCARB1 C>T	12	125271678	125271678	C	T	SCARB1	c.1254+274G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125271678C>T	(Likely) benign	1 lab	41e5d4c90e
1:214571251 PTPN14 A>C	1	214571251	214571251	A	C	PTPN14	c.758+5T>G	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214571251A>C	(Likely) benign	1 lab	41e9aa592f
2:210654296 UNC80 T>C	2	210654296	210654296	T	C	UNC80	c.765T>C	NM_032504.2	NP_115893.1:p.(Cys255=)	NC_000002.11:g.210654296T>C	(Likely) benign	1 lab	41ebfc6705
7:151265877 PRKAG2 G>A	7	151265877	151265877	G	A	PRKAG2	c.1158C>T	NM_016203.4	NP_057287.2:p.(Pro386=)	NC_000007.13:g.151265877G>A	(Likely) benign	1 lab	41ec8da9d1
8:69158113 MISSING C>Alt too long to show for this DUP	8	69158113	69486500	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.69158117_69486500dup	VUS	1 lab	41ecc5f386
4:100528011 MTTP A>G	4	100528011	100528011	A	G	MTTP	c.1451A>G	NM_000253.4	NP_000244.2:p.(Glu484Gly)	NC_000004.11:g.100528011A>G	VUS	1 lab	41ef6ed4f9
5:147795697 FBXO38 A>AT	5	147795697	147795712	A	AT	FBXO38	c.1407+79dup	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147795712dup	(Likely) benign	1 lab	41efa0a6cb
9:35801743 NPR2 C>T	9	35801743	35801743	C	T	NPR2	c.1540C>T	NM_003995.4	NP_003986.2:p.(Arg514Cys)	NC_000009.11:g.35801743C>T	VUS	1 lab	41f8e61fea
5:177035447 B4GALT7 G>A	5	177035447	177035447	G	A	B4GALT7	c.640-93G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035447G>A	(Likely) benign	1 lab	41fc3c87c3
22:39631763 PDGFB G>C	22	39631763	39631763	G	C	PDGFB	c.160+20C>G	NM_002608.4	NP_002599.1:p.?	NC_000022.10:g.39631763G>C	(Likely) benign	1 lab	420048dd20
10:73466823 CDH23 C>T	10	73466823	73466823	C	T	CDH23	c.3123C>T	NM_001171931.2	NP_001165402.1:p.(Ser1041=)	NC_000010.10:g.73466823C>T	(Likely) benign	1 lab	4201ae35a3
15:22765627 MISSING A>Alt too long to show for this DUP	15	22765627	23217514	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22765628_23217514dup	VUS	1 lab	4202f93941
16:55695423 MISSING Ref too long to show for this DEL>A	16	55695423	57394848	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.55695424_57394848del	(Likely) pathogenic	1 lab	42044a18b5
19:50905366 POLD1 C>T	19	50905366	50905366	C	T	POLD1	c.574C>T	NM_001256849.1	NP_001243778.1:p.(Leu192=)	NC_000019.9:g.50905366C>T	(Likely) benign	1 lab	4209500f86
19:12776548 MAN2B1 C>T	19	12776548	12776548	C	T	MAN2B1	c.231G>A	NM_000528.4	NP_000519.2:p.(Trp77Ter)	NC_000019.9:g.12776548C>T	(Likely) pathogenic	1 lab	420a2a0973
13:77566151 CLN5 G>T	13	77566151	77566151	G	T	CLN5				NC_000013.10:g.77566151G>T	(Likely) benign	1 lab	423729d013
19:11238492 LDLR A>G	19	11238492	11238492	A	G	LDLR	c.2312-192A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238492A>G	(Likely) benign	1 lab	420ca543e7
3:63983382 ATXN7 A>AT	3	63983382	63983390	A	AT	ATXN7	c.2661+1231dup	NM_000333.4	NP_000324.1:p.?	NC_000003.11:g.63983390dup	(Likely) benign	1 lab	421638cb82
11:47360682 MYBPC3 G>C	11	47360682	47360682	G	C	MYBPC3	c.2148+193C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360682G>C	(Likely) benign	1 lab	421c3a3b18
6:7576580 DSP A>G	6	7576580	7576580	A	G	DSP	c.2684A>G	NM_004415.4	NP_004406.2:p.(Tyr895Cys)	NC_000006.11:g.7576580A>G	VUS	1 lab	42203f3f0c
2:97830035 ANKRD36 C>A	2	97830035	97830035	C	A	ANKRD36	c.1445C>A	NM_001354587.1	NP_001341516.1:p.(Pro482Gln)	NC_000002.11:g.97830035C>A	(Likely) benign	1 lab	4220b75ebd
8:38287255 FGFR1 G>A	8	38287255	38287255	G	A	FGFR1	c.303C>T	NM_023110.3	NP_075598.2:p.(Cys101=)	NC_000008.10:g.38287255G>A	(Likely) benign	1 lab	4226f6fea1
4:108868566 CYP2U1 C>T	4	108868566	108868566	C	T	CYP2U1	c.1161C>T	NM_183075.3	NP_898898.1:p.(Gly387=)	NC_000004.11:g.108868566C>T	(Likely) benign	1 lab	42285f8a96
2:21232128 APOB G>A	2	21232128	21232128	G	A	APOB	c.7612C>T	NM_000384.3	NP_000375.3:p.(Leu2538=)	NC_000002.11:g.21232128G>A	(Likely) benign	1 lab	4229d3a78b
8:19819724 LPL C>G	8	19819724	19819724	C	G	LPL	c.1421C>G	NM_000237.3	NP_000228.1:p.(Ser474Ter)	NC_000008.10:g.19819724C>G	(Likely) benign	1 lab	422ada1d95
18:6912861 MISSING G>Alt too long to show for this DUP	18	6912861	7577290	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.6912862_7577290dup	VUS	1 lab	4231ec5e56
19:47260146 FKRP A>T	19	47260146	47260146	A	T	FKRP	c.1439A>T	NM_001039885.3	NP_001034974.1:p.(Asn480Ile)	NC_000019.9:g.47260146A>T	VUS	1 lab	42344d9314
6:147501192 MISSING Ref too long to show for this DEL>A	6	147501192	147528080	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.147501193_147528080del	VUS	1 lab	423ba3f8d4
12:88510793 CEP290 C>CA	12	88510793	88510795	C	CA	CEP290	c.1824+16dup	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88510795dup	(Likely) benign	1 lab	423fc8844b
3:154802058 MME T>C	3	154802058	154802058	T	C	MME	c.102T>C	NM_007289.4	NP_009220.2:p.(Leu34=)	NC_000003.11:g.154802058T>C	(Likely) benign	1 lab	4249bedda7
9:137708904 COL5A1 A>G	9	137708904	137708904	A	G	COL5A1	c.4155A>G	NM_000093.5	NP_000084.3:p.(Pro1385=)	NC_000009.11:g.137708904A>G	VUS	1 lab	424d9c9fba
12:6711155 CHD4 C>A	12	6711155	6711155	C	A	CHD4	c.409G>T	NM_001273.5	NP_001264.2:p.(Glu137Ter)	NC_000012.11:g.6711155C>A	VUS	1 lab	425084d327
4:79372922 FRAS1 A>T	4	79372922	79372922	A	T	FRAS1	c.6464-4A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79372922A>T	(Likely) benign	1 lab	425f0f37ce
15:45445692 DUOX1 ATGTGTGTGTGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTGTGTGTGTG	A	DUOX1	c.3524+51_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445728_45445745del	(Likely) benign	1 lab	425fb633f3
15:45402903 DUOX2 G>A	15	45402903	45402903	G	A	DUOX2	c.888C>T	NM_014080.5	NP_054799.4:p.(Ile296=)	NC_000015.9:g.45402903G>A	(Likely) benign	1 lab	4269b73480
8:10467617 RP1L1 G>C	8	10467617	10467617	G	C	RP1L1	c.3991C>G	NM_178857.6	NP_849188.4:p.(Leu1331Val)	NC_000008.10:g.10467617G>C	(Likely) benign	1 lab	426a2758d1
8:38947721 ADAM9 T>C	8	38947721	38947721	T	C	ADAM9	c.2210+14T>C	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38947721T>C	(Likely) benign	1 lab	426fe2a4e6
2:179497473 TTN G>A	2	179497473	179497473	G	A	TTN	c.43260C>T	NM_001267550.2	NP_001254479.2:p.(Phe14420=)	NC_000002.11:g.179497473G>A	(Likely) benign	1 lab	42710f6397
5:168444913 MISSING G>Alt too long to show for this DUP	5	168444913	169113215	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.168444914_169113215dup	VUS	1 lab	46a754bbde
10:77795856 LRMDA A>G	10	77795856	77795856	A	G	LRMDA	c.138A>G	NM_032024.5	NP_114413.1:p.(Leu46=)	NC_000010.10:g.77795856A>G	(Likely) benign	1 lab	42718614ea
9:79852900 VPS13A CT>C	9	79852900	79852910	CT	C	VPS13A	c.1596-8del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79852910del	(Likely) benign	1 lab	4273d59afc
17:33687154 MISSING Ref too long to show for this DEL>T	17	33687154	33763483	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.33687156_33763483del	VUS	1 lab	4276a481c1
5:112178553 APC C>A	5	112178553	112178553	C	A	APC	c.7262C>A	NM_000038.6	NP_000029.2:p.(Ser2421Ter)	NC_000005.9:g.112178553C>A	(Likely) pathogenic	1 lab	4276d405c3
18:34229369 FHOD3 GT>G	18	34229369	34229370	GT	G	FHOD3	c.1286+2del	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34229370del	(Likely) pathogenic	1 lab	427c83893c
3:53531333 CACNA1D C>T	3	53531333	53531333	C	T	CACNA1D	c.222C>T	NM_000720.4	NP_000711.1:p.(Pro74=)	NC_000003.11:g.53531333C>T	(Likely) benign	1 lab	428bd5f6ac
17:21319008 KCNJ12 G>C	17	21319008	21319008	G	C	KCNJ12	c.354G>C	NM_021012.5	NP_066292.2:p.(Arg118=)	NC_000017.10:g.21319008G>C	(Likely) benign	1 lab	42933bfc1d
2:189855630 COL3A1 T>C	2	189855630	189855630	T	C	COL3A1	c.799-100T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189855630T>C	(Likely) benign	1 lab	42943f648c
16:67976252 LCAT C>T	16	67976252	67976252	C	T	LCAT	c.748+14G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976252C>T	(Likely) benign	1 lab	4294ff3134
16:30992058 SETD1A A>G	16	30992058	30992058	A	G	SETD1A	c.4582-2A>G	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30992058A>G	VUS	1 lab	42951f1316
7:100274434 GNB2 T>C	7	100274434	100274434	T	C	GNB2	c.203+12T>C	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100274434T>C	(Likely) benign	1 lab	4296cf8eb4
15:48749040 FBN1 C>CGTGTGTGTGTGTGT	15	48749040	48749069	C	CGTGTGTGTGTGTGT	FBN1	c.5297-95_5297-82dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48749056_48749069dup	(Likely) benign	1 lab	4297c49677
7:81591822 CACNA2D1 CAAATAA>C	7	81591822	81591831	CAAATAA	C	CACNA2D1	c.2781-17_2781-12del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81591826_81591831del	(Likely) benign	1 lab	429d23acf5
7:81374380 HGF A>C	7	81374380	81374380	A	C	HGF	c.682T>G	NM_000601.6	NP_000592.3:p.(Ser228Ala)	NC_000007.13:g.81374380A>C	(Likely) benign	1 lab	429dd52f5f
11:47353674 MYBPC3 C>T	11	47353674	47353674	C	T	MYBPC3	c.3763G>A	NM_000256.3	NP_000247.2:p.(Ala1255Thr)	NC_000011.9:g.47353674C>T	VUS	1 lab	429eaf7e09
11:83985792 DLG2 Ref too long to show for this DEL>T	11	83985792	84398339	Ref too long to show for this DEL	T	DLG2	c.358-152564_520-23459del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.83985794_84398339del	(Likely) pathogenic	1 lab	42a0964684
14:95572111 DICER1 A>C	14	95572111	95572111	A	C	DICER1	c.2997T>G	NM_177438.3	NP_803187.1:p.(Leu999=)	NC_000014.8:g.95572111A>C	(Likely) benign	1 lab	42a591cb31
X:152864503 CCNQ C>A	X	152864503	152864503	C	A	CCNQ	c.28G>T	NM_152274.5	NP_689487.2:p.(Gly10Trp)	NC_000023.10:g.152864503C>A	(Likely) benign	1 lab	42b1f0dabf
12:21375361 SLCO1B1 TACAC>T	12	21375361	21375372	TACAC	T	SLCO1B1	c.1747+71_1747+74del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375369_21375372del	(Likely) benign	1 lab	42b8908ebe
12:2788861 CACNA1C C>T	12	2788861	2788861	C	T	CACNA1C	c.5343C>T	NM_001167623.2	NP_001161095.1:p.(Pro1781=)	NC_000012.11:g.2788861C>T	(Likely) benign	1 lab	42c0feda89
1:114372332 PTPN22 TA>T	1	114372332	114372344	TA	T	PTPN22	c.2135-4del	NM_015967.8	NP_057051.4:p.?	NC_000001.10:g.114372344del	(Likely) benign	1 lab	42c52f1b3a
6:56515787 DST G>A	6	56515787	56515787	G	A	DST	c.1272C>T	NM_001144769.5	NP_001138241.1:p.(Tyr424=)	NC_000006.11:g.56515787G>A	(Likely) benign	1 lab	42c73f66b7
9:139324845 INPP5E G>A	9	139324845	139324845	G	A	INPP5E	c.1686C>T	NM_019892.6	NP_063945.2:p.(Ser562=)	NC_000009.11:g.139324845G>A	(Likely) benign	1 lab	42c80c177c
2:179604270 TTN C>T	2	179604270	179604270	C	T	TTN	c.13690G>A	NM_001267550.2	NP_001254479.2:p.(Glu4564Lys)	NC_000002.11:g.179604270C>T	VUS	1 lab	42cc85d1d3
6:56483741 DST G>A	6	56483741	56483741	G	A	DST	c.4831-4459C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56483741G>A	(Likely) benign	1 lab	42cde3340e
2:179544336 TTN T>C	2	179544336	179544336	T	C	TTN	c.29922A>G	NM_133378.4	NP_596869.4:p.(Pro9974=)	NC_000002.11:g.179544336T>C	(Likely) benign	1 lab	42d4aa2cb7
18:47088738 LIPG G>A	18	47088738	47088738	G	A	LIPG	c.60G>A	NM_006033.4	NP_006024.1:p.(Gly20=)	NC_000018.9:g.47088738G>A	(Likely) benign	1 lab	42d4cba2bf
15:91358441 BLM T>C	15	91358441	91358441	T	C	BLM	c.4186T>C	NM_000057.4	NP_000048.1:p.(Leu1396=)	NC_000015.9:g.91358441T>C	(Likely) benign	1 lab	42d7fa0f15
4:118507943 MISSING Ref too long to show for this DEL>A	4	118507943	118869209	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.118507944_118869209del	VUS	1 lab	42e04e3d67
7:154378861 DPP6 T>C	7	154378861	154378861	T	C	DPP6	c.628-50670T>C	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154378861T>C	(Likely) benign	1 lab	42e0f541ea
19:58806854 ZNF8 G>A	19	58806854	58806854	G	A	ZNF8	c.1680G>A	NM_021089.3	NP_066575.2:p.(Glu560=)	NC_000019.9:g.58806854G>A	(Likely) benign	1 lab	42e4f33f42
8:19805719 LPL T>G	8	19805719	19805719	T	G	LPL	c.117T>G	NM_000237.3	NP_000228.1:p.(Ser39Arg)	NC_000008.10:g.19805719T>G	(Likely) pathogenic	1 lab	42e74ac38d
1:205799497 PM20D1 A>G	1	205799497	205799497	A	G	PM20D1	c.1296T>C	NM_152491.5	NP_689704.4:p.(Ile432=)	NC_000001.10:g.205799497A>G	(Likely) benign	1 lab	42e8db8b26
2:44104996 ABCG8 G>T	2	44104996	44104996	G	T	ABCG8	c.1966G>T	NM_022437.3	NP_071882.1:p.(Val656Phe)	NC_000002.11:g.44104996G>T	VUS	1 lab	42e900766d
15:100589181 ADAMTS17 G>A	15	100589181	100589181	G	A	ADAMTS17	c.2472C>T	NM_139057.4	NP_620688.2:p.(Ile824=)	NC_000015.9:g.100589181G>A	(Likely) benign	1 lab	42eb5a3797
15:48717581 FBN1 C>T	15	48717581	48717581	C	T	FBN1	c.7438G>A	NM_000138.5	NP_000129.3:p.(Gly2480Arg)	NC_000015.9:g.48717581C>T	VUS	1 lab	42f3597d3b
16:3305928 MISSING Ref too long to show for this DEL>G	16	3305928	3610624	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.3305929_3610624del	VUS	1 lab	42f54d9929
11:117260983 MISSING G>Alt too long to show for this DUP	11	117260983	117346258	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117260988_117346258dup	VUS	1 lab	47a7b042c6
7:91700229 AKAP9 G>A	7	91700229	91700229	G	A	AKAP9	c.6518G>A	NM_005751.5	NP_005742.4:p.(Arg2173Gln)	NC_000007.13:g.91700229G>A	(Likely) benign	1 lab	42fe1c21f2
6:10410194 TFAP2A G>A	6	10410194	10410194	G	A	TFAP2A	c.402C>T	NM_001032280.3	NP_001027451.1:p.(Leu134=)	NC_000006.11:g.10410194G>A	(Likely) benign	1 lab	42fee3bcf6
17:36489298 GPR179 G>C	17	36489298	36489298	G	C	GPR179	c.1891-18C>G	NM_001004334.4	NP_001004334.3:p.?	NC_000017.10:g.36489298G>C	(Likely) benign	1 lab	42ffb398ff
16:46766129 MYLK3 C>T	16	46766129	46766129	C	T	MYLK3	c.1453G>A	NM_182493.3	NP_872299.2:p.(Val485Met)	NC_000016.9:g.46766129C>T	VUS	1 lab	4301ae6334
11:48346547 OR4C3 C>T	11	48346547	48346547	C	T	OR4C3	c.-27C>T	NM_001004702.2	NP_001004702.2:p.?	NC_000011.9:g.48346547C>T	(Likely) benign	1 lab	4303758f5a
8:19805850 LPL C>T	8	19805850	19805850	C	T	LPL	c.248C>T	NM_000237.3	NP_000228.1:p.(Thr83Met)	NC_000008.10:g.19805850C>T	(Likely) pathogenic	1 lab	4304bfcb56
4:26322426 RBPJ T>G	4	26322426	26322426	T	G	RBPJ	c.48T>G	NM_005349.4	NP_005340.2:p.(Ala16=)	NC_000004.11:g.26322426T>G	(Likely) benign	1 lab	4305519cfd
2:44071679 ABCG8 G>A	2	44071679	44071679	G	A	ABCG8	c.97G>A	NM_022437.3	NP_071882.1:p.(Asp33Asn)	NC_000002.11:g.44071679G>A	VUS	1 lab	430f1c06df
1:12064159 MFN2 A>G	1	12064159	12064159	A	G	MFN2	c.1271A>G	NM_014874.4	NP_055689.1:p.(Glu424Gly)	NC_000001.10:g.12064159A>G	(Likely) pathogenic	1 lab	431019f6f7
12:56630209 SLC39A5 C>T	12	56630209	56630209	C	T	SLC39A5	c.975C>T	NM_173596.3	NP_775867.2:p.(Leu325=)	NC_000012.11:g.56630209C>T	(Likely) benign	1 lab	43124c77cf
2:149089325 MBD5 Ref too long to show for this DEL>T	2	149089325	149201267	Ref too long to show for this DEL	T	MBD5	c.-679-10457_-556-14505del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149089326_149201267del	VUS	1 lab	431a403556
1:218607858 TGFB2 A>C	1	218607858	218607858	A	C	TGFB2	c.838+68A>C	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218607858A>C	(Likely) benign	1 lab	431c5ffd0b
19:2112841 AP3D1 G>A	19	2112841	2112841	G	A	AP3D1	c.2787+18C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2112841G>A	(Likely) benign	1 lab	431d2ce538
1:55509717 PCSK9 C>G	1	55509717	55509717	C	G	PCSK9	c.399+10C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509717C>G	(Likely) benign	1 lab	431fde5248
9:5877868 MISSING Ref too long to show for this DEL>A	9	5877868	5960051	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.5877870_5960051del	VUS	1 lab	43207b9b39
16:88500507 ZNF469 T>C	16	88500507	88500507	T	C	ZNF469	c.6629T>C	NM_001367624.2	NP_001354553.1:p.(Leu2210Pro)	NC_000016.9:g.88500507T>C	(Likely) benign	1 lab	43248ab0fe
19:38987056 RYR1 G>A	19	38987056	38987056	G	A	RYR1	c.6671G>A	NM_000540.3	NP_000531.2:p.(Arg2224His)	NC_000019.9:g.38987056G>A	VUS	1 lab	432746570f
8:59404257 CYP7A1 T>C	8	59404257	59404257	T	C	CYP7A1	c.1292A>G	NM_000780.4	NP_000771.2:p.(Lys431Arg)	NC_000008.10:g.59404257T>C	VUS	1 lab	4328118ad6
X:107175072 MISSING A>Alt too long to show for this DUP	X	107175072	107237647	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.107175079_107237647dup	VUS	1 lab	432c88b285
9:107593900 ABCA1 T>C	9	107593900	107593900	T	C	ABCA1	c.1715+3A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593900T>C	(Likely) benign	1 lab	432d13bed3
12:102054917 MYBPC1 T>G	12	102054917	102054917	T	G	MYBPC1	c.1928-19T>G	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102054917T>G	(Likely) benign	1 lab	4330c10c23
2:189951520 COL5A2 G>A	2	189951520	189951520	G	A	COL5A2	c.646-24C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189951520G>A	(Likely) benign	1 lab	4332a1af4d
11:117244452 CEP164 G>T	11	117244452	117244452	G	T	CEP164	c.1153-15G>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117244452G>T	(Likely) benign	1 lab	433c7f18fe
3:178922273 PIK3CA C>A	3	178922273	178922273	C	A	PIK3CA	c.1060-18C>A	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178922273C>A	(Likely) benign	1 lab	4340a168d7
9:79862281 VPS13A T>G	9	79862281	79862281	T	G	VPS13A	c.2007T>G	NM_033305.3	NP_150648.2:p.(Asn669Lys)	NC_000009.11:g.79862281T>G	VUS	1 lab	4342a749df
14:89338743 TTC8 G>A	14	89338743	89338743	G	A	TTC8	c.1342G>A	NM_001288781.1	NP_001275710.1:p.(Glu448Lys)	NC_000014.8:g.89338743G>A	(Likely) benign	1 lab	43472b84dd
8:144297258 GPIHBP1 C>G	8	144297258	144297258	C	G	GPIHBP1	c.420C>G	NM_178172.6	NP_835466.2:p.(Pro140=)	NC_000008.10:g.144297258C>G	(Likely) benign	1 lab	43473c0e08
16:71025239 HYDIN AG>A	16	71025239	71025240	AG	A	HYDIN	c.3845del	NM_001270974.2	NP_001257903.1:p.(Ala1282ValfsTer4)	NC_000016.9:g.71025240del	VUS	1 lab	4347a5ea55
17:41223252 BRCA1 C>A	17	41223252	41223252	C	A	BRCA1	c.4679G>T	NM_007294.4	NP_009225.1:p.(Gly1560Val)	NC_000017.10:g.41223252C>A	(Likely) benign	1 lab	43482523a0
19:38956953 RYR1 G>A	19	38956953	38956953	G	A	RYR1	c.3093G>A	NM_000540.3	NP_000531.2:p.(Lys1031=)	NC_000019.9:g.38956953G>A	(Likely) benign	1 lab	4349825359
21:38139503 HLCS A>T	21	38139503	38139503	A	T	HLCS	c.1519+16T>A	NM_001242784.3	NP_001229713.1:p.?	NC_000021.8:g.38139503A>T	(Likely) benign	1 lab	4349d87a4c
20:45362456 SLC2A10 A>G	20	45362456	45362456	A	G	SLC2A10	c.1609A>G	NM_030777.4	NP_110404.1:p.(Ile537Val)	NC_000020.10:g.45362456A>G	(Likely) benign	1 lab	4349eb2bf4
2:179497060 TTN A>G	2	179497060	179497060	A	G	TTN	c.43561T>C	NM_001267550.2	NP_001254479.2:p.(Ser14521Pro)	NC_000002.11:g.179497060A>G	VUS	1 lab	434ebf2c81
2:179446646 TTN A>C	2	179446646	179446646	A	C	TTN	c.66450T>G	NM_001267550.2	NP_001254479.2:p.(Ala22150=)	NC_000002.11:g.179446646A>C	(Likely) benign	1 lab	4359acedb5
15:34529617 SLC12A6 C>T	15	34529617	34529617	C	T	SLC12A6	c.2934+3G>A	NM_001365088.1	NP_001352017.1:p.?	NC_000015.9:g.34529617C>T	(Likely) benign	1 lab	435b8cb2bf
2:21250924 APOB C>T	2	21250924	21250924	C	T	APOB	c.1843G>A	NM_000384.3	NP_000375.3:p.(Val615Met)	NC_000002.11:g.21250924C>T	VUS	1 lab	435c17134c
1:5937283 NPHP4 C>A	1	5937283	5937283	C	A	NPHP4	c.2687G>T	NM_015102.5	NP_055917.1:p.(Arg896Leu)	NC_000001.10:g.5937283C>A	(Likely) benign	1 lab	435eff525d
2:179474392 TTN T>G	2	179474392	179474392	T	G	TTN	c.51739+19A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179474392T>G	(Likely) benign	1 lab	4361969d4c
1:156096635 LMNA G>A	1	156096635	156096635	G	A	LMNA	c.42G>A	NM_001282624.2	NP_001269553.1:p.(Arg14=)	NC_000001.10:g.156096635G>A	(Likely) benign	1 lab	43630af9ff
X:103495190 ESX1 TTGGCACAGGCGCCATGGGCGGCCAGGG>T	X	103495190	103495260	TTGGCACAGGCGCCATGGGCGGCCAGGG	T	ESX1	c.913_939del	NM_153448.4	NP_703149.1:p.(Pro305_Pro313del)	NC_000023.10:g.103495234_103495260del	(Likely) benign	1 lab	4365a66c91
10:68535301 CTNNA3 G>A	10	68535301	68535301	G	A	CTNNA3	c.1048-19C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535301G>A	(Likely) benign	1 lab	436b6fae30
12:6925294 CD4 T>C	12	6925294	6925294	T	C	CD4	c.680T>C	NM_000616.5	NP_000607.1:p.(Phe227Ser)	NC_000012.11:g.6925294T>C	(Likely) benign	1 lab	43742a3989
10:69934170 MYPN C>A	10	69934170	69934170	C	A	MYPN	c.2321C>A	NM_032578.4	NP_115967.2:p.(Ser774Tyr)	NC_000010.10:g.69934170C>A	VUS	1 lab	43747adf19
X:153420159 OPN1LW T>C	X	153420159	153420159	T	C	OPN1LW	c.689T>C	NM_020061.6	NP_064445.2:p.(Ile230Thr)	NC_000023.10:g.153420159T>C	(Likely) benign	1 lab	437552a754
2:219646907 CYP27A1 T>TGGCTGCGCTG	2	219646907	219646925	T	TGGCTGCGCTG	CYP27A1	c.11_20dup	NM_000784.4	NP_000775.1:p.(Arg8GlyfsTer176)	NC_000002.11:g.219646916_219646925dup	(Likely) pathogenic	1 lab	437d774c5d
11:66291040 BBS1 C>CCACAAGGTGCACCACACCACAAGGTGCA	11	66291040	66291042	C	CCACAAGGTGCACCACACCACAAGGTGCA	BBS1	c.945_946insACAAGGTGCACCACACCACAAGGTGCAC	NM_024649.5	NP_078925.3:p.(His316ThrfsTer54)	NC_000011.9:g.66291041_66291042insACAAGGTGCACCACACCACAAGGTGCAC	(Likely) pathogenic	1 lab	4382d481ac
19:11918572 MISSING C>Alt too long to show for this DUP	19	11918572	12061336	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.11918573_12061336dup	VUS	1 lab	43860fcff1
16:88783118 PIEZO1 G>A	16	88783118	88783118	G	A	PIEZO1	c.6775C>T	NM_001142864.4	NP_001136336.2:p.(Gln2259Ter)	NC_000016.9:g.88783118G>A	(Likely) pathogenic	1 lab	438b2989e2
7:43484121 HECW1 G>A	7	43484121	43484121	G	A	HECW1	c.1350G>A	NM_015052.5	NP_055867.3:p.(Gln450=)	NC_000007.13:g.43484121G>A	(Likely) benign	1 lab	438cc4aa57
16:28497807 CLN3 C>T	16	28497807	28497807	C	T	CLN3	c.538G>A	NM_001042432.2	NP_001035897.1:p.(Val180Met)	NC_000016.9:g.28497807C>T	(Likely) benign	1 lab	438ed0f770
12:124323011 DNAH10 T>C	12	124323011	124323011	T	C	DNAH10	c.4557T>C	NM_207437.3	NP_997320.2:p.(Gly1519=)	NC_000012.11:g.124323011T>C	(Likely) benign	1 lab	438fbd53db
1:11199448 MTOR C>T	1	11199448	11199448	C	T	MTOR	c.5043G>A	NM_001386500.1	NP_001373429.1:p.(Pro1681=)	NC_000001.10:g.11199448C>T	(Likely) benign	1 lab	4390573ea6
19:45451769 APOC2 G>A	19	45451769	45451769	G	A	APOC2	c.34G>A	NM_000483.5	NP_000474.2:p.(Val12Ile)	NC_000019.9:g.45451769G>A	(Likely) benign	1 lab	4391e13414
9:107578578 ABCA1 C>T	9	107578578	107578578	C	T	ABCA1	c.3584G>A	NM_005502.4	NP_005493.2:p.(Arg1195Gln)	NC_000009.11:g.107578578C>T	VUS	1 lab	439409983e
11:65308586 LTBP3 C>G	11	65308586	65308586	C	G	LTBP3	c.2893+11G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308586C>G	(Likely) benign	1 lab	439447e606
12:21358922 SLCO1B1 C>T	12	21358922	21358922	C	T	SLCO1B1	c.1452C>T	NM_006446.5	NP_006437.3:p.(Pro484=)	NC_000012.11:g.21358922C>T	(Likely) benign	1 lab	4397b6a3e1
1:237796971 RYR2 C>T	1	237796971	237796971	C	T	RYR2	c.6649C>T	NM_001035.3	NP_001026.2:p.(His2217Tyr)	NC_000001.10:g.237796971C>T	(Likely) pathogenic	1 lab	439f8422fd
2:213372673 MISSING Ref too long to show for this DEL>G	2	213372673	213670082	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.213372675_213670082del	(Likely) pathogenic	1 lab	43a15d9548
17:75471636 SEPTIN9 C>T	17	75471636	75471636	C	T	SEPTIN9	c.668-6590C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75471636C>T	(Likely) benign	1 lab	43a1a9b63e
10:95422806 PDE6C G>A	10	95422806	95422806	G	A	PDE6C	c.2389G>A	NM_006204.4	NP_006195.3:p.(Glu797Lys)	NC_000010.10:g.95422806G>A	VUS	1 lab	43a2f27d4e
2:179614261 TTN T>C	2	179614261	179614261	T	C	TTN	c.12866A>G	NM_133379.5	NP_596870.2:p.(Tyr4289Cys)	NC_000002.11:g.179614261T>C	(Likely) benign	1 lab	43a40445f3
1:55524339 PCSK9 CGTGTGTGTGTGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGTGTGTGTGTGT	C	PCSK9	c.1503+48_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524368_55524391del	(Likely) benign	1 lab	43a6531fc3
2:189862416 COL3A1 A>G	2	189862416	189862416	A	G	COL3A1	c.1870-10A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862416A>G	(Likely) benign	1 lab	43acb8724d
6:32714058 HLA-DQA2 T>G	6	32714058	32714058	T	G	HLA-DQA2	c.655T>G	NM_020056.5	NP_064440.1:p.(Leu219Val)	NC_000006.11:g.32714058T>G	(Likely) benign	1 lab	43acd0e90d
19:11238474 LDLR C>A	19	11238474	11238474	C	A	LDLR	c.2312-210C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238474C>A	(Likely) benign	1 lab	43af0c6f0c
1:236912510 ACTN2 C>T	1	236912510	236912510	C	T	ACTN2	c.978C>T	NM_001278344.2	NP_001265273.1:p.(Gly326=)	NC_000001.10:g.236912510C>T	(Likely) benign	1 lab	43ba8c3b78
2:179516868 TTN C>T	2	179516868	179516868	C	T	TTN	c.39250G>A	NM_001267550.2	NP_001254479.2:p.(Val13084Met)	NC_000002.11:g.179516868C>T	VUS	1 lab	43c2cf5f64
2:238253259 COL6A3 C>T	2	238253259	238253259	C	T	COL6A3	c.7402G>A	NM_004369.4	NP_004360.2:p.(Val2468Ile)	NC_000002.11:g.238253259C>T	VUS	1 lab	43c42f7808
14:103392829 MISSING Ref too long to show for this DEL>C	14	103392829	107287507	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.103392832_107287507del	(Likely) pathogenic	1 lab	43c58cb628
3:78676467 ROBO1 A>G	3	78676467	78676467	A	G	ROBO1	c.3740+4T>C	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78676467A>G	(Likely) benign	1 lab	43d20ed80e
16:50813910 CYLD C>T	16	50813910	50813910	C	T	CYLD	c.1473C>T	NM_015247.3	NP_056062.1:p.(Ile491=)	NC_000016.9:g.50813910C>T	(Likely) benign	1 lab	43d30e9963
1:6008318 NPHP4 G>A	1	6008318	6008318	G	A	NPHP4	c.811-7C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.6008318G>A	(Likely) benign	1 lab	43d3b23639
12:89864162 POC1B G>A	12	89864162	89864162	G	A	POC1B	c.786C>T	NM_172240.3	NP_758440.1:p.(Leu262=)	NC_000012.11:g.89864162G>A	(Likely) benign	1 lab	43d42e0240
4:128813685 PLK4 A>G	4	128813685	128813685	A	G	PLK4	c.2188+16A>G	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128813685A>G	(Likely) benign	1 lab	43d5a40a58
4:106156983 TET2 G>A	4	106156983	106156983	G	A	TET2	c.1884G>A	NM_001127208.3	NP_001120680.1:p.(Glu628=)	NC_000004.11:g.106156983G>A	(Likely) benign	1 lab	43d70c60be
X:53277411 IQSEC2 CCA>C	X	53277411	53277417	CCA	C	IQSEC2	c.2465_2466del	NM_001111125.3	NP_001104595.1:p.(Val822GlyfsTer3)	NC_000023.10:g.53277416_53277417del	(Likely) pathogenic	1 lab	43d97c3017
12:57884356 MARS1 T>G	12	57884356	57884356	T	G	MARS1	c.699T>G	NM_004990.4	NP_004981.2:p.(Ile233Met)	NC_000012.11:g.57884356T>G	VUS	1 lab	43ec511229
7:117468639 CTTNBP2 Ref too long to show for this DEL>C	7	117468639	117480854	Ref too long to show for this DEL	C	CTTNBP2	c.189+20410_190-17597del	NM_033427.3	NP_219499.1:p.?	NC_000007.13:g.117468641_117480854del	VUS	1 lab	43eda61d61
10:90982283 LIPA CAT>C	10	90982283	90982285	CAT	C	LIPA	c.877_878del	NM_001127605.3	NP_001121077.1:p.(Met293ValfsTer8)	NC_000010.10:g.90982284_90982285del	(Likely) pathogenic	1 lab	43f3eac8fc
10:30638208 MTPAP T>TAAA	10	30638208	30638230	T	TAAA	MTPAP				NC_000010.10:g.30638228_30638230dup	(Likely) benign	1 lab	43f6901928
12:117907457 KSR2 G>A	12	117907457	117907457	G	A	KSR2	c.2846+10C>T	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117907457G>A	(Likely) benign	1 lab	43fdbe56c3
9:107645922 ABCA1 T>C	9	107645922	107645922	T	C	ABCA1	c.303-484A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645922T>C	(Likely) benign	1 lab	4401960596
19:11221357 LDLR G>A	19	11221357	11221357	G	A	LDLR	c.970G>A	NM_000527.5	NP_000518.1:p.(Gly324Ser)	NC_000019.9:g.11221357G>A	VUS	1 lab	44019a0e48
1:201328769 TNNT2 A>G	1	201328769	201328769	A	G	TNNT2	c.803T>C	NM_001276347.2	NP_001263276.1:p.(Ile268Thr)	NC_000001.10:g.201328769A>G	VUS	1 lab	440455e522
16:3656493 SLX4 C>T	16	3656493	3656493	C	T	SLX4	c.742G>A	NM_032444.4	NP_115820.2:p.(Glu248Lys)	NC_000016.9:g.3656493C>T	(Likely) benign	1 lab	44055c57bc
16:30748735 SRCAP TC>T	16	30748735	30748737	TC	T	SRCAP	c.7376del	NM_006662.3	NP_006653.2:p.(Pro2459LeufsTer16)	NC_000016.9:g.30748737del	(Likely) pathogenic	1 lab	440fa3ad3d
1:110173775 AMPD2 G>T	1	110173775	110173775	G	T	AMPD2	c.*1G>T	NM_001257361.2	NP_001244290.1:p.?	NC_000001.10:g.110173775G>T	(Likely) benign	1 lab	44115bdc74
14:91840088 CCDC88C C>Alt too long to show for this DUP	14	91840088	91858302	C	Alt too long to show for this DUP	CCDC88C	c.270+16701_271-14034dup	NM_001080414.4	NP_001073883.2:p.?	NC_000014.8:g.91840089_91858302dup	VUS	1 lab	4413422dfe
16:88500678 ZNF469 G>A	16	88500678	88500678	G	A	ZNF469	c.6800G>A	NM_001367624.2	NP_001354553.1:p.(Arg2267Gln)	NC_000016.9:g.88500678G>A	(Likely) benign	1 lab	4415bc30d1
4:114294293 ANK2 A>G	4	114294293	114294293	A	G	ANK2	c.11658A>G	NM_001148.6	NP_001139.3:p.(Glu3886=)	NC_000004.11:g.114294293A>G	(Likely) benign	1 lab	4416a4203b
3:78655923 ROBO1 T>G	3	78655923	78655923	T	G	ROBO1	c.4569A>C	NM_133631.4	NP_598334.2:p.(Ala1523=)	NC_000003.11:g.78655923T>G	(Likely) benign	1 lab	44192faf08
5:112175166 APC C>T	5	112175166	112175166	C	T	APC	c.3875C>T	NM_000038.6	NP_000029.2:p.(Thr1292Met)	NC_000005.9:g.112175166C>T	(Likely) benign	1 lab	441f6d3ea4
9:107555526 ABCA1 G>A	9	107555526	107555526	G	A	ABCA1	c.5562C>T	NM_005502.4	NP_005493.2:p.(Phe1854=)	NC_000009.11:g.107555526G>A	(Likely) benign	1 lab	442378e313
18:21136135 NPC1 G>A	18	21136135	21136135	G	A	NPC1	c.1326+72C>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21136135G>A	(Likely) benign	1 lab	4427d1ba6e
7:128496871 FLNC A>G	7	128496871	128496871	A	G	FLNC	c.7457A>G	NM_001458.5	NP_001449.3:p.(His2486Arg)	NC_000007.13:g.128496871A>G	VUS	1 lab	4429969a5e
12:76740982 BBS10 T>C	12	76740982	76740982	T	C	BBS10	c.783A>G	NM_024685.4	NP_078961.3:p.(Thr261=)	NC_000012.11:g.76740982T>C	(Likely) benign	1 lab	442effa66f
2:31754489 SRD5A2 C>T	2	31754489	31754489	C	T	SRD5A2	c.586G>A	NM_000348.4	NP_000339.2:p.(Gly196Ser)	NC_000002.11:g.31754489C>T	(Likely) pathogenic	1 lab	443080c311
22:38511673 PLA2G6 C>T	22	38511673	38511673	C	T	PLA2G6	c.1895G>A	NM_003560.4	NP_003551.2:p.(Arg632Gln)	NC_000022.10:g.38511673C>T	VUS	1 lab	4434b5d310
6:123824835 TRDN T>A	6	123824835	123824835	T	A	TRDN	c.822A>T	NM_001256021.2	NP_001242950.1:p.(Gly274=)	NC_000006.11:g.123824835T>A	(Likely) benign	1 lab	4434d1f353
16:961051 LMF1 C>T	16	961051	961051	C	T	LMF1	c.144G>A	NM_001352018.2	NP_001338947.1:p.(Gly48=)	NC_000016.9:g.961051C>T	(Likely) benign	1 lab	443a5f004f
2:179443515 TTN T>C	2	179443515	179443515	T	C	TTN	c.68224+18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179443515T>C	(Likely) benign	1 lab	443a88e007
2:179418745 TTN A>C	2	179418745	179418745	A	C	TTN	c.81389T>G	NM_133378.4	NP_596869.4:p.(Leu27130Arg)	NC_000002.11:g.179418745A>C	VUS	1 lab	443afb3efc
20:10631199 JAG1 C>T	20	10631199	10631199	C	T	JAG1	c.1121-191G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10631199C>T	(Likely) benign	1 lab	443c4b78d4
18:34156465 FHOD3 G>A	18	34156465	34156465	G	A	FHOD3	c.563G>A	NM_001281740.3	NP_001268669.1:p.(Arg188His)	NC_000018.9:g.34156465G>A	(Likely) benign	1 lab	443ecda5c6
5:82834396 VCAN T>C	5	82834396	82834396	T	C	VCAN	c.5574T>C	NM_004385.5	NP_004376.2:p.(Tyr1858=)	NC_000005.9:g.82834396T>C	(Likely) benign	1 lab	443ef5c182
4:106320250 PPA2 C>A	4	106320250	106320250	C	A	PPA2	c.727G>T	NM_176869.3	NP_789845.1:p.(Val243Leu)	NC_000004.11:g.106320250C>A	(Likely) benign	1 lab	444970bc12
10:73553281 CDH23 T>A	10	73553281	73553281	T	A	CDH23	c.6596T>A	NM_022124.6	NP_071407.4:p.(Ile2199Asn)	NC_000010.10:g.73553281T>A	(Likely) benign	1 lab	444b36fbd7
1:55518417 PCSK9 G>A	1	55518417	55518417	G	A	PCSK9	c.752G>A	NM_174936.4	NP_777596.2:p.(Arg251His)	NC_000001.10:g.55518417G>A	VUS	1 lab	444ce4c938
19:11234463 LDLR AT>A	19	11234463	11234474	AT	A	LDLR	c.2311+454del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234474del	(Likely) benign	1 lab	445091d746
2:219677673 CYP27A1 G>C	2	219677673	219677673	G	C	CYP27A1	c.871G>C	NM_000784.4	NP_000775.1:p.(Glu291Gln)	NC_000002.11:g.219677673G>C	VUS	1 lab	4450e158e9
4:74272475 ALB A>C	4	74272475	74272475	A	C	ALB	c.267A>C	NM_000477.7	NP_000468.1:p.(Ser89=)	NC_000004.11:g.74272475A>C	(Likely) benign	1 lab	445181a96c
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	445c6acd0e
10:112583094 RBM20 C>A	10	112583094	112583094	C	A	RBM20	c.3317-144C>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583094C>A	(Likely) benign	1 lab	445ca61dff
1:55521242 PCSK9 T>G	1	55521242	55521242	T	G	PCSK9	c.800-424T>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521242T>G	(Likely) benign	1 lab	445cac1f0c
14:70234949 MISSING Ref too long to show for this DEL>G	14	70234949	70275026	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.70234951_70275026del	VUS	1 lab	4461304131
10:69934143 MYPN T>G	10	69934143	69934143	T	G	MYPN	c.2294T>G	NM_032578.4	NP_115967.2:p.(Val765Gly)	NC_000010.10:g.69934143T>G	VUS	1 lab	4465df5732
14:68157965 RDH11 C>A	14	68157965	68157965	C	A	RDH11	c.350-4G>T	NM_016026.4	NP_057110.3:p.?	NC_000014.8:g.68157965C>A	(Likely) benign	1 lab	4466aef104
16:57931283 CNGB1 G>A	16	57931283	57931283	G	A	CNGB1	c.3242+18C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57931283G>A	(Likely) benign	1 lab	4467bfd1ad
10:53227524 PRKG1 A>T	10	53227524	53227524	A	T	PRKG1	c.475A>T	NM_001098512.3	NP_001091982.1:p.(Thr159Ser)	NC_000010.10:g.53227524A>T	VUS	1 lab	446c86a634
9:107599395 ABCA1 G>A	9	107599395	107599395	G	A	ABCA1	c.1195-18C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599395G>A	(Likely) benign	1 lab	447650c54d
16:67977999 LCAT C>T	16	67977999	67977999	C	T	LCAT	c.6G>A	NM_000229.2	NP_000220.1:p.(Gly2=)	NC_000016.9:g.67977999C>T	(Likely) benign	1 lab	447a254336
19:15290911 NOTCH3 C>T	19	15290911	15290911	C	T	NOTCH3	c.3299G>A	NM_000435.3	NP_000426.2:p.(Arg1100His)	NC_000019.9:g.15290911C>T	(Likely) benign	1 lab	447e6f8433
7:128478936 FLNC C>T	7	128478936	128478936	C	T	FLNC	c.1411+79C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478936C>T	(Likely) benign	1 lab	4482427263
8:24813970 NEFL C>CGCGCTACGTGGAG	8	24813970	24813971	C	CGCGCTACGTGGAG	NEFL	c.59_60insCTCCACGTAGCGC	NM_006158.5	NP_006149.2:p.(Glu20AspfsTer4)	NC_000008.10:g.24813970_24813971insGCGCTACGTGGAG	(Likely) pathogenic	1 lab	44854f2352
X:131218585 FRMD7 C>T	X	131218585	131218585	C	T	FRMD7	c.674G>A	NM_194277.3	NP_919253.1:p.(Trp225Ter)	NC_000023.10:g.131218585C>T	(Likely) pathogenic	1 lab	44855a34ce
17:48265302 COL1A1 G>A	17	48265302	48265302	G	A	COL1A1	c.3304C>T	NM_000088.4	NP_000079.2:p.(Gln1102Ter)	NC_000017.10:g.48265302G>A	(Likely) pathogenic	1 lab	448740b89b
19:1495454 REEP6 C>T	19	1495454	1495454	C	T	REEP6	c.210-14C>T	NM_001329556.3	NP_001316485.1:p.?	NC_000019.9:g.1495454C>T	(Likely) benign	1 lab	448b5d051b
2:153515873 PRPF40A ACGGGG>A	2	153515873	153515878	ACGGGG	A	PRPF40A	c.2323-8_2323-4del	NM_017892.4	NP_060362.3:p.?	NC_000002.11:g.153515874_153515878del	(Likely) benign	1 lab	448cc1b848
2:44051561 ABCG5 C>T	2	44051561	44051561	C	T	ABCG5	c.915G>A	NM_022436.3	NP_071881.1:p.(Thr305=)	NC_000002.11:g.44051561C>T	(Likely) benign	1 lab	4490bec923
16:971431 LMF1 G>A	16	971431	971431	G	A	LMF1	c.116-10352C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.971431G>A	(Likely) benign	1 lab	4494af4693
19:11238728 LDLR A>T	19	11238728	11238728	A	T	LDLR	c.2356A>T	NM_000527.5	NP_000518.1:p.(Ser786Cys)	NC_000019.9:g.11238728A>T	(Likely) pathogenic	1 lab	449871913f
9:137623939 COL5A1 A>AT	9	137623939	137623940	A	AT	COL5A1	c.1355_1356insT	NM_000093.5	NP_000084.3:p.(Lys452AsnfsTer164)	NC_000009.11:g.137623939_137623940insT	(Likely) pathogenic	1 lab	449ad2947e
20:744570 SLC52A3 G>A	20	744570	744570	G	A	SLC52A3	c.645C>T	NM_033409.4	NP_212134.3:p.(Pro215=)	NC_000020.10:g.744570G>A	(Likely) benign	1 lab	449ce59eba
2:44101578 ABCG8 C>G	2	44101578	44101578	C	G	ABCG8	c.1444C>G	NM_022437.3	NP_071882.1:p.(Leu482Val)	NC_000002.11:g.44101578C>G	VUS	1 lab	44a2134fd1
10:4679192 MISSING C>Alt too long to show for this DUP	10	4679192	4729036	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.4679195_4729036dup	VUS	1 lab	44a2e6ac78
8:19796845 LPL G>C	8	19796845	19796845	G	C	LPL	c.-107G>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796845G>C	VUS	1 lab	44a4fcad9d
17:59885898 BRIP1 C>T	17	59885898	59885898	C	T	BRIP1	c.848G>A	NM_032043.3	NP_114432.2:p.(Cys283Tyr)	NC_000017.10:g.59885898C>T	VUS	1 lab	44ac1e1815
15:58853113 LIPC A>G	15	58853113	58853113	A	G	LIPC	c.1102A>G	NM_000236.3	NP_000227.2:p.(Ile368Val)	NC_000015.9:g.58853113A>G	(Likely) benign	1 lab	44adb1207d
16:77375594 ADAMTS18 A>G	16	77375594	77375594	A	G	ADAMTS18	c.1710+7T>C	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77375594A>G	(Likely) benign	1 lab	44b0555f29
19:15298023 NOTCH3 C>T	19	15298023	15298023	C	T	NOTCH3	c.1733G>A	NM_000435.3	NP_000426.2:p.(Arg578His)	NC_000019.9:g.15298023C>T	VUS	1 lab	44b7cf66dd
19:11200069 LDLR C>T	19	11200069	11200069	C	T	LDLR				NC_000019.9:g.11200069C>T	(Likely) pathogenic	1 lab	47e48a2452
2:179456906 TTN T>C	2	179456906	179456906	T	C	TTN	c.59725A>G	NM_001267550.2	NP_001254479.2:p.(Ile19909Val)	NC_000002.11:g.179456906T>C	VUS	1 lab	44b93b8f20
1:10380210 KIF1B C>T	1	10380210	10380210	C	T	KIF1B	c.2209+16C>T	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10380210C>T	(Likely) benign	1 lab	44bf4560f7
1:216497645 USH2A C>T	1	216497645	216497645	C	T	USH2A	c.1193G>A	NM_206933.4	NP_996816.3:p.(Arg398Lys)	NC_000001.10:g.216497645C>T	(Likely) benign	1 lab	44c22ac591
16:947793 LMF1 G>A	16	947793	947793	G	A	LMF1	c.265-4721C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.947793G>A	(Likely) benign	1 lab	44ca5b1b45
2:179644112 TTN T>G	2	179644112	179644112	T	G	TTN	c.3807A>C	NM_001267550.2	NP_001254479.2:p.(Glu1269Asp)	NC_000002.11:g.179644112T>G	VUS	1 lab	44cbd5cbe6
2:105989996 FHL2 A>T	2	105989996	105989996	A	T	FHL2	c.331+20T>A	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105989996A>T	(Likely) benign	1 lab	44ccab5670
20:62659930 PRPF6 G>T	20	62659930	62659930	G	T	PRPF6	c.2431+8G>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62659930G>T	(Likely) benign	1 lab	44d58c3306
9:107582275 ABCA1 C>T	9	107582275	107582275	C	T	ABCA1	c.3036G>A	NM_005502.4	NP_005493.2:p.(Met1012Ile)	NC_000009.11:g.107582275C>T	(Likely) benign	1 lab	44d71de584
16:77325162 ADAMTS18 C>T	16	77325162	77325162	C	T	ADAMTS18	c.3402+1G>A	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77325162C>T	(Likely) pathogenic	1 lab	44ddb01af3
5:92923672 NR2F1 C>A	5	92923672	92923672	C	A	NR2F1	c.513C>A	NM_005654.6	NP_005645.1:p.(Tyr171Ter)	NC_000005.9:g.92923672C>A	(Likely) pathogenic	1 lab	44ddf530d8
6:32021472 TNXB T>G	6	32021472	32021472	T	G	TNXB	c.8478A>C	NM_019105.8	NP_061978.6:p.(Ala2826=)	NC_000006.11:g.32021472T>G	(Likely) benign	1 lab	44e83fcda2
5:127674608 FBN2 G>T	5	127674608	127674608	G	T	FBN2	c.3472+17C>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127674608G>T	(Likely) benign	1 lab	44ea3c05d6
1:237850666 RYR2 C>CTT	1	237850666	237850684	C	CTT	RYR2	c.9018-72_9018-71dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850683_237850684dup	(Likely) benign	1 lab	44ed05ecbb
15:23811152 MKRN3 GC>G	15	23811152	23811156	GC	G	MKRN3	c.227del	NM_005664.4	NP_005655.1:p.(Pro76GlnfsTer95)	NC_000015.9:g.23811156del	(Likely) pathogenic	1 lab	44eefbe0b4
5:90151630 ADGRV1 C>G	5	90151630	90151630	C	G	ADGRV1	c.17667C>G	NM_032119.4	NP_115495.3:p.(His5889Gln)	NC_000005.9:g.90151630C>G	VUS	1 lab	44f9e933d8
4:156679578 MISSING T>Alt too long to show for this DUP	4	156679578	156738247	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.156679579_156738247dup	VUS	1 lab	44fa643012
7:127894555 LEP C>A	7	127894555	127894555	C	A	LEP	c.243C>A	NM_000230.3	NP_000221.1:p.(Val81=)	NC_000007.13:g.127894555C>A	(Likely) benign	1 lab	4505503f2b
9:340265 DOCK8 C>G	9	340265	340265	C	G	DOCK8	c.1623C>G	NM_203447.4	NP_982272.2:p.(His541Gln)	NC_000009.11:g.340265C>G	VUS	1 lab	45068c3184
19:42250079 MISSING Ref too long to show for this DEL>A	19	42250079	42274385	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.42250081_42274385del	VUS	1 lab	450aaa4024
14:103434586 CDC42BPB T>C	14	103434586	103434586	T	C	CDC42BPB	c.2346+4A>G	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103434586T>C	VUS	1 lab	450b3f9fd4
1:161276528 MPZ A>T	1	161276528	161276528	A	T	MPZ	c.418T>A	NM_000530.8	NP_000521.2:p.(Ser140Thr)	NC_000001.10:g.161276528A>T	(Likely) pathogenic	1 lab	450b9b1f83
10:91005549 LIPA C>T	10	91005549	91005549	C	T	LIPA	c.113G>A	NM_000235.4	NP_000226.2:p.(Ser38Asn)	NC_000010.10:g.91005549C>T	(Likely) benign	1 lab	451114d759
20:3214159 SLC4A11 C>A	20	3214159	3214159	C	A	SLC4A11	c.858+1G>T	NM_001174090.2	NP_001167561.1:p.?	NC_000020.10:g.3214159C>A	(Likely) pathogenic	1 lab	451c2bad04
12:125270915 SCARB1 T>C	12	125270915	125270915	T	C	SCARB1	c.1389A>G	NM_001367981.1	NP_001354910.1:p.(Gln463=)	NC_000012.11:g.125270915T>C	VUS	1 lab	451c31096b
12:125263085 SCARB1 G>A	12	125263085	125263085	G	A	SCARB1	c.1449C>T	NM_001082959.2	NP_001076428.1:p.(Asp483=)	NC_000012.11:g.125263085G>A	(Likely) benign	1 lab	451cfb2c51
14:80993330 CEP128 G>GA	14	80993330	80993342	G	GA	CEP128	c.2959-5dup	NM_152446.5	NP_689659.2:p.?	NC_000014.8:g.80993342dup	(Likely) benign	1 lab	45216b6f39
4:166414386 CPE A>G	4	166414386	166414386	A	G	CPE	c.1177A>G	NM_001873.4	NP_001864.1:p.(Ile393Val)	NC_000004.11:g.166414386A>G	(Likely) benign	1 lab	452a05b96e
2:21246479 APOB C>T	2	21246479	21246479	C	T	APOB	c.2522G>A	NM_000384.3	NP_000375.3:p.(Gly841Glu)	NC_000002.11:g.21246479C>T	VUS	1 lab	452c50d513
15:58838164 LIPC C>G	15	58838164	58838164	C	G	LIPC	c.798C>G	NM_000236.3	NP_000227.2:p.(His266Gln)	NC_000015.9:g.58838164C>G	VUS	1 lab	452d8a3cdc
2:149041141 MBD5 Ref too long to show for this DEL>C	2	149041141	149165468	Ref too long to show for this DEL	C	MBD5	c.-680+50181_-556-50304del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149041145_149165468del	VUS	1 lab	4534bf501b
2:44104908 ABCG8 T>C	2	44104908	44104908	T	C	ABCG8	c.1885-7T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104908T>C	(Likely) benign	1 lab	45360cea14
4:114276610 ANK2 A>G	4	114276610	114276610	A	G	ANK2	c.6836A>G	NM_001148.6	NP_001139.3:p.(His2279Arg)	NC_000004.11:g.114276610A>G	VUS	1 lab	45439fc2a1
10:47087024 NPY4R G>A	10	47087024	47087024	G	A	NPY4R	c.241G>A	NM_005972.6	NP_005963.4:p.(Ala81Thr)	NC_000010.10:g.47087024G>A	(Likely) benign	1 lab	4551d4cde0
2:21232569 APOB C>G	2	21232569	21232569	C	G	APOB	c.7171G>C	NM_000384.3	NP_000375.3:p.(Glu2391Gln)	NC_000002.11:g.21232569C>G	VUS	1 lab	455639791f
16:16255364 ABCC6 C>T	16	16255364	16255364	C	T	ABCC6	c.3222G>A	NM_001351800.1	NP_001338729.1:p.(Thr1074=)	NC_000016.9:g.16255364C>T	(Likely) benign	1 lab	455cb462f6
X:2700315 MISSING Ref too long to show for this DEL>G	X	2700315	2808467	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.2700318_2808467del	VUS	1 lab	455cfc2a24
12:2431560 CACNA1C G>Alt too long to show for this DUP	12	2431560	2450465	G	Alt too long to show for this DUP	CACNA1C	c.478-126581_478-107677dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2431561_2450465dup	VUS	1 lab	455ff15d06
13:32912671 BRCA2 G>A	13	32912671	32912671	G	A	BRCA2	c.4179G>A	NM_000059.4	NP_000050.3:p.(Ala1393=)	NC_000013.10:g.32912671G>A	(Likely) benign	1 lab	4562585898
2:238434401 MLPH C>T	2	238434401	238434401	C	T	MLPH	c.833C>T	NM_024101.7	NP_077006.1:p.(Pro278Leu)	NC_000002.11:g.238434401C>T	(Likely) benign	1 lab	45659f82f5
17:41008759 MISSING A>Alt too long to show for this DUP	17	41008759	41181044	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.41008760_41181044dup	VUS	1 lab	456aac5dbd
8:144296613 GPIHBP1 C>T	8	144296613	144296613	C	T	GPIHBP1	c.182-275C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296613C>T	(Likely) benign	1 lab	456df10207
11:108167984 ATM TTAAAC>T	11	108167984	108167992	TTAAAC	T	ATM	c.4910-26_4910-22del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108167988_108167992del	VUS	1 lab	456fc356e4
6:32053603 TNXB G>T	6	32053603	32053603	G	T	TNXB	c.3072C>A	NM_019105.8	NP_061978.6:p.(Thr1024=)	NC_000006.11:g.32053603G>T	(Likely) benign	1 lab	4571612905
17:79503772 FSCN2 C>T	17	79503772	79503772	C	T	FSCN2	c.1302C>T	NM_001077182.3	NP_001070650.1:p.(Asp434=)	NC_000017.10:g.79503772C>T	(Likely) benign	1 lab	45756a3982
2:44055202 ABCG5 A>G	2	44055202	44055202	A	G	ABCG5	c.554T>C	NM_022436.3	NP_071881.1:p.(Ile185Thr)	NC_000002.11:g.44055202A>G	VUS	1 lab	45787590bf
2:95816017 ZNF514 T>TA	2	95816017	95816036	T	TA	ZNF514	c.218-6dup	NM_032788.3	NP_116177.1:p.?	NC_000002.11:g.95816036dup	(Likely) benign	1 lab	457acb6dc8
11:76905498 MYO7A CCCGA>C	11	76905498	76905505	CCCGA	C	MYO7A	c.4256_4259del	NM_000260.4	NP_000251.3:p.(Asp1419AlafsTer6)	NC_000011.9:g.76905502_76905505del	(Likely) pathogenic	1 lab	4582d5a96b
9:107593326 ABCA1 C>T	9	107593326	107593326	C	T	ABCA1	c.1772G>A	NM_005502.4	NP_005493.2:p.(Gly591Glu)	NC_000009.11:g.107593326C>T	(Likely) pathogenic	1 lab	4583a6a187
3:25761670 NGLY1 G>A	3	25761670	25761670	G	A	NGLY1	c.1624C>T	NM_018297.4	NP_060767.2:p.(Arg542Ter)	NC_000003.11:g.25761670G>A	(Likely) pathogenic	1 lab	458c0bf37e
2:179418794 TTN T>G	2	179418794	179418794	T	G	TTN	c.89044A>C	NM_001267550.2	NP_001254479.2:p.(Lys29682Gln)	NC_000002.11:g.179418794T>G	VUS	1 lab	4595b1152d
14:23854128 MYH6 C>T	14	23854128	23854128	C	T	MYH6	c.5286G>A	NM_002471.4	NP_002462.2:p.(Thr1762=)	NC_000014.8:g.23854128C>T	(Likely) benign	1 lab	4599028874
11:68705876 IGHMBP2 G>A	11	68705876	68705876	G	A	IGHMBP2	c.2784+54G>A	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68705876G>A	(Likely) benign	1 lab	45a1015890
17:75496460 SEPTIN9 T>C	17	75496460	75496460	T	C	SEPTIN9	c.*1720T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75496460T>C	(Likely) benign	1 lab	45a2631674
9:137712327 COL5A1 C>A	9	137712327	137712327	C	A	COL5A1	c.4554+258C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137712327C>A	(Likely) benign	1 lab	45a56c587b
2:48066560 FBXO11 G>C	2	48066560	48066560	G	C	FBXO11	c.440C>G	NM_001190274.2	NP_001177203.1:p.(Ser147Ter)	NC_000002.11:g.48066560G>C	(Likely) pathogenic	1 lab	45a915d553
9:135211910 SETX C>A	9	135211910	135211910	C	A	SETX	c.499-8G>T	NM_001351527.2	NP_001338456.1:p.?	NC_000009.11:g.135211910C>A	(Likely) benign	1 lab	45aacb6844
15:58840605 LIPC G>T	15	58840605	58840605	G	T	LIPC	c.885G>T	NM_000236.3	NP_000227.2:p.(Thr295=)	NC_000015.9:g.58840605G>T	(Likely) benign	1 lab	45add50788
2:179396974 TTN G>A	2	179396974	179396974	G	A	TTN	c.104368C>T	NM_001267550.2	NP_001254479.2:p.(Leu34790Phe)	NC_000002.11:g.179396974G>A	VUS	1 lab	45b3bea675
7:30651813 GARS1 A>G	7	30651813	30651813	A	G	GARS1	c.821A>G	NM_001316772.1	NP_001303701.1:p.(Asn274Ser)	NC_000007.13:g.30651813A>G	VUS	1 lab	45b928e24c
12:110034319 MVK C>T	12	110034319	110034319	C	T	MVK	c.1128C>T	NM_000431.4	NP_000422.1:p.(Gly376=)	NC_000012.11:g.110034319C>T	(Likely) benign	1 lab	45bde12476
X:28811159 IL1RAPL1 Ref too long to show for this DEL>A	X	28811159	28818866	Ref too long to show for this DEL	A	IL1RAPL1	c.82+3619_82+11324del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.28811161_28818866del	VUS	1 lab	45c1beaaa3
19:18278023 PIK3R2 C>T	19	18278023	18278023	C	T	PIK3R2	c.1643C>T	NM_005027.4	NP_005018.2:p.(Ala548Val)	NC_000019.9:g.18278023C>T	(Likely) benign	1 lab	45c6a0a2e7
X:47511710 MISSING Ref too long to show for this DEL>T	X	47511710	48311754	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.47511711_48311754del	(Likely) pathogenic	1 lab	45c6aa3d60
3:38616844 SCN5A G>A	3	38616844	38616844	G	A	SCN5A	c.3610C>T	NM_198056.3	NP_932173.1:p.(His1204Tyr)	NC_000003.11:g.38616844G>A	VUS	1 lab	45c758dbfe
12:56117652 RDH5 G>A	12	56117652	56117652	G	A	RDH5	c.570-18G>A	NM_001199771.3	NP_001186700.1:p.?	NC_000012.11:g.56117652G>A	(Likely) benign	1 lab	45c9fe164d
17:56572427 MTMR4 G>A	17	56572427	56572427	G	A	MTMR4	c.3076C>T	NM_004687.5	NP_004678.3:p.(Arg1026Trp)	NC_000017.10:g.56572427G>A	VUS	1 lab	45cc61d040
19:16596022 CALR3 T>TGGCA	19	16596022	16596023	T	TGGCA	CALR3	c.443_444insTGCC	NM_145046.5	NP_659483.2:p.(Leu148PhefsTer7)	NC_000019.9:g.16596022_16596023insGGCA	(Likely) benign	1 lab	45cf4a1926
7:107336364 SLC26A4 A>G	7	107336364	107336364	A	G	SLC26A4	c.1438-14A>G	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107336364A>G	(Likely) benign	1 lab	45cfe141d6
2:113999679 PAX8 C>T	2	113999679	113999679	C	T	PAX8	c.507G>A	NM_003466.4	NP_003457.1:p.(Glu169=)	NC_000002.11:g.113999679C>T	(Likely) benign	1 lab	45d465fba6
1:23238991 EPHB2 G>A	1	23238991	23238991	G	A	EPHB2	c.2751G>A	NM_017449.5	NP_059145.2:p.(Thr917=)	NC_000001.10:g.23238991G>A	(Likely) benign	1 lab	45d76edc08
17:59938863 BRIP1 A>G	17	59938863	59938863	A	G	BRIP1	c.38T>C	NM_032043.3	NP_114432.2:p.(Val13Ala)	NC_000017.10:g.59938863A>G	VUS	1 lab	45d7b70949
17:76694385 CYTH1 G>A	17	76694385	76694385	G	A	CYTH1	c.600C>T	NM_001292018.2	NP_001278947.1:p.(Phe200=)	NC_000017.10:g.76694385G>A	(Likely) benign	1 lab	45dca429ff
1:115828756 NGF G>A	1	115828756	115828756	G	A	NGF	c.661C>T	NM_002506.3	NP_002497.2:p.(Arg221Trp)	NC_000001.10:g.115828756G>A	(Likely) pathogenic	1 lab	45e1a9c64f
19:616061 HCN2 G>C	19	616061	616061	G	C	HCN2	c.2257G>C	NM_001194.4	NP_001185.3:p.(Gly753Arg)	NC_000019.9:g.616061G>C	VUS	1 lab	45e81c7678
19:11218189 LDLR C>T	19	11218189	11218189	C	T	LDLR	c.939C>T	NM_000527.5	NP_000518.1:p.(Cys313=)	NC_000019.9:g.11218189C>T	VUS	1 lab	45edf44622
12:20858967 SLCO1C1 T>C	12	20858967	20858967	T	C	SLCO1C1	c.356T>C	NM_001145945.2	NP_001139417.1:p.(Met119Thr)	NC_000012.11:g.20858967T>C	VUS	1 lab	45ef6a6090
17:59793270 BRIP1 C>A	17	59793270	59793270	C	A	BRIP1	c.2492+42G>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59793270C>A	(Likely) benign	1 lab	45f28cf90c
14:106536989 MISSING Ref too long to show for this DEL>A	14	106536989	107285437	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.106536990_107285437del	(Likely) pathogenic	1 lab	48f28deb82
17:37332897 MISSING A>Alt too long to show for this DUP	17	37332897	37649052	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.37332899_37649052dup	VUS	1 lab	45f5a5d5ba
17:7749558 KDM6B C>G	17	7749558	7749558	C	G	KDM6B	c.399C>G	NM_001080424.2	NP_001073893.1:p.(Ala133=)	NC_000017.10:g.7749558C>G	(Likely) benign	1 lab	45f850481a
13:77566203 CLN5 G>T	13	77566203	77566203	G	T	CLN5				NC_000013.10:g.77566203G>T	(Likely) benign	1 lab	46019e7a94
5:40934418 C7 T>C	5	40934418	40934418	T	C	C7	c.139-9T>C	NM_000587.4	NP_000578.2:p.?	NC_000005.9:g.40934418T>C	(Likely) benign	1 lab	46059bba00
1:94548982 ABCA4 C>CT	1	94548982	94548983	C	CT	ABCA4	c.783dup	NM_000350.3	NP_000341.2:p.(Asp262ArgfsTer18)	NC_000001.10:g.94548983dup	(Likely) pathogenic	1 lab	460cfcd8db
19:11238756 LDLR C>A	19	11238756	11238756	C	A	LDLR	c.2384C>A	NM_000527.5	NP_000518.1:p.(Pro795His)	NC_000019.9:g.11238756C>A	(Likely) pathogenic	1 lab	460f0c689e
11:45931740 PEX16 A>G	11	45931740	45931740	A	G	PEX16	c.*65T>C	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45931740A>G	(Likely) benign	1 lab	460f832ad4
2:141625834 LRP1B T>TA	2	141625834	141625853	T	TA	LRP1B	c.4170-3dup	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141625853dup	(Likely) benign	1 lab	4610cb2d9c
X:16591876 MISSING A>Alt too long to show for this DUP	X	16591876	16726510	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.16591880_16726510dup	VUS	1 lab	461257e924
2:21255263 APOB G>A	2	21255263	21255263	G	A	APOB	c.1315C>T	NM_000384.3	NP_000375.3:p.(Arg439Ter)	NC_000002.11:g.21255263G>A	(Likely) pathogenic	1 lab	46166437bb
X:152829596 MISSING T>Alt too long to show for this DUP	X	152829596	152957296	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152829597_152957296dup	VUS	1 lab	4618099e54
17:61994736 GH1 A>G	17	61994736	61994736	A	G	GH1	c.587T>C	NM_000515.5	NP_000506.2:p.(Met196Thr)	NC_000017.10:g.61994736A>G	VUS	1 lab	461b31865c
X:63226511 MISSING Ref too long to show for this DEL>T	X	63226511	63724460	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.63226513_63724460del	(Likely) pathogenic	1 lab	461f47bf71
22:24110046 CHCHD10 G>C	22	24110046	24110046	G	C	CHCHD10	c.16C>G	NM_001301339.2	NP_001288268.1:p.(Arg6Gly)	NC_000022.10:g.24110046G>C	VUS	1 lab	462522d2d5
5:180057293 FLT4 T>C	5	180057293	180057293	T	C	FLT4	c.445A>G	NM_182925.5	NP_891555.2:p.(Asn149Asp)	NC_000005.9:g.180057293T>C	(Likely) benign	1 lab	46297392ab
5:128844919 ADAMTS19 C>T	5	128844919	128844919	C	T	ADAMTS19	c.897C>T	NM_133638.6	NP_598377.4:p.(Tyr299=)	NC_000005.9:g.128844919C>T	(Likely) benign	1 lab	4629c4795b
2:152548373 NEB C>G	2	152548373	152548373	C	G	NEB	c.2211+5G>C	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152548373C>G	(Likely) pathogenic	1 lab	4629d340ec
11:47371738 MYBPC3 A>G	11	47371738	47371738	A	G	MYBPC3	c.407-75T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371738A>G	(Likely) benign	1 lab	46315f71ac
1:1372773 VWA1 C>T	1	1372773	1372773	C	T	VWA1	c.540C>T	NM_022834.5	NP_073745.2:p.(Ala180=)	NC_000001.10:g.1372773C>T	(Likely) benign	1 lab	464346895c
6:7563814 DSP C>T	6	7563814	7563814	C	T	DSP	c.727-155C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7563814C>T	(Likely) benign	1 lab	464826d740
3:81698007 GBE1 C>G	3	81698007	81698007	C	G	GBE1	c.691G>C	NM_000158.4	NP_000149.4:p.(Gly231Arg)	NC_000003.11:g.81698007C>G	VUS	1 lab	464efe6da7
3:48618079 COL7A1 G>T	3	48618079	48618079	G	T	COL7A1	c.4987C>A	NM_000094.4	NP_000085.1:p.(Pro1663Thr)	NC_000003.11:g.48618079G>T	VUS	1 lab	465b1d8a6c
15:63363369 TPM1 T>G	15	63363369	63363369	T	G	TPM1				NC_000015.9:g.63363369T>G	VUS	1 lab	465daa4378
1:146409969 NBPF14 A>C	1	146409969	146409969	A	C	NBPF14	c.1307-2167A>C	NM_015383.2	NP_056198.2:p.?	NC_000001.10:g.146409969A>C	(Likely) benign	1 lab	465f877d01
2:127340819 MISSING A>Alt too long to show for this DUP	2	127340819	127503786	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.127340821_127503786dup	VUS	1 lab	4665faf33c
12:81102370 MYF6 G>A	12	81102370	81102370	G	A	MYF6	c.587G>A	NM_002469.3	NP_002460.1:p.(Gly196Glu)	NC_000012.11:g.81102370G>A	VUS	1 lab	4667b1072a
X:70444023 GJB1 C>T	X	70444023	70444023	C	T	GJB1	c.466C>T	NM_000166.6	NP_000157.1:p.(Leu156Phe)	NC_000023.10:g.70444023C>T	(Likely) pathogenic	1 lab	4674eaed15
3:100467165 TFG C>T	3	100467165	100467165	C	T	TFG	c.993C>T	NM_006070.6	NP_006061.2:p.(Ala331=)	NC_000003.11:g.100467165C>T	(Likely) benign	1 lab	4674ec5762
6:32010356 TNXB T>C	6	32010356	32010356	T	C	TNXB	c.12080A>G	NM_019105.8	NP_061978.6:p.(Asp4027Gly)	NC_000006.11:g.32010356T>C	VUS	1 lab	46770474b6
8:144991773 PLEC G>A	8	144991773	144991773	G	A	PLEC	c.12627C>T	NM_201380.4	NP_958782.1:p.(Phe4209=)	NC_000008.10:g.144991773G>A	(Likely) benign	1 lab	467adb99ea
1:161276530 MPZ G>T	1	161276530	161276530	G	T	MPZ	c.416C>A	NM_000530.8	NP_000521.2:p.(Thr139Asn)	NC_000001.10:g.161276530G>T	(Likely) pathogenic	1 lab	467d2f9595
2:44049978 ABCG5 A>G	2	44049978	44049978	A	G	ABCG5	c.1421T>C	NM_022436.3	NP_071881.1:p.(Phe474Ser)	NC_000002.11:g.44049978A>G	VUS	1 lab	467dba0ca2
15:58830563 LIPC A>G	15	58830563	58830563	A	G	LIPC	c.120A>G	NM_000236.3	NP_000227.2:p.(Glu40=)	NC_000015.9:g.58830563A>G	(Likely) benign	1 lab	467efed02c
2:179534128 TTN A>G	2	179534128	179534128	A	G	TTN	c.35517T>C	NM_001267550.2	NP_001254479.2:p.(Ile11839=)	NC_000002.11:g.179534128A>G	(Likely) benign	1 lab	467f086d7d
4:166388825 CPE C>CT	4	166388825	166388837	C	CT	CPE	c.505-3dup	NM_001873.4	NP_001864.1:p.?	NC_000004.11:g.166388837dup	(Likely) benign	1 lab	467fd13e31
17:15142924 PMP22 C>T	17	15142924	15142924	C	T	PMP22	c.183G>A	NM_000304.4	NP_000295.1:p.(Trp61Ter)	NC_000017.10:g.15142924C>T	(Likely) pathogenic	1 lab	4681f69eaf
8:19811732 LPL G>A	8	19811732	19811732	G	A	LPL	c.643G>A	NM_000237.3	NP_000228.1:p.(Gly215Arg)	NC_000008.10:g.19811732G>A	(Likely) pathogenic	1 lab	46823efc30
20:10388369 MKKS C>T	20	10388369	10388369	C	T	MKKS	c.1167G>A	NM_018848.3	NP_061336.1:p.(Thr389=)	NC_000020.10:g.10388369C>T	(Likely) benign	1 lab	46856f2caf
3:195512242 MUC4 G>A	3	195512242	195512242	G	A	MUC4	c.6209C>T	NM_018406.7	NP_060876.5:p.(Pro2070Leu)	NC_000003.11:g.195512242G>A	(Likely) benign	1 lab	468d2a6122
10:69905286 MYPN A>C	10	69905286	69905286	A	C	MYPN	c.1130+3A>C	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69905286A>C	VUS	1 lab	4693c88199
2:21251402 APOB C>A	2	21251402	21251402	C	A	APOB	c.1626G>T	NM_000384.3	NP_000375.3:p.(Glu542Asp)	NC_000002.11:g.21251402C>A	(Likely) benign	1 lab	469771c92e
3:147858904 MISSING A>Alt too long to show for this DUP	3	147858904	148561782	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.147858905_148561782dup	VUS	1 lab	4698a77656
15:93515091 CHD2 C>A	15	93515091	93515091	C	A	CHD2	c.2286C>A	NM_001271.4	NP_001262.3:p.(Cys762Ter)	NC_000015.9:g.93515091C>A	(Likely) pathogenic	1 lab	469ebce679
1:10399811 KIF1B TA>T	1	10399811	10399812	TA	T	KIF1B	c.3285-15del	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10399812del	(Likely) benign	1 lab	46a5fdbcc1
5:178555045 ADAMTS2 G>A	5	178555045	178555045	G	A	ADAMTS2	c.2532C>T	NM_014244.5	NP_055059.2:p.(Asp844=)	NC_000005.9:g.178555045G>A	(Likely) benign	1 lab	46a95f9f8e
19:11231157 LDLR A>G	19	11231157	11231157	A	G	LDLR	c.2099A>G	NM_000527.5	NP_000518.1:p.(Asp700Gly)	NC_000019.9:g.11231157A>G	(Likely) pathogenic	1 lab	46a978d65e
3:14212050 XPC C>T	3	14212050	14212050	C	T	XPC	c.300G>A	NM_004628.5	NP_004619.3:p.(Arg100=)	NC_000003.11:g.14212050C>T	(Likely) benign	1 lab	46add7baf2
9:107555504 ABCA1 C>T	9	107555504	107555504	C	T	ABCA1	c.5584G>A	NM_005502.4	NP_005493.2:p.(Val1862Met)	NC_000009.11:g.107555504C>T	VUS	1 lab	46af62d2ad
12:48398117 COL2A1 G>T	12	48398117	48398117	G	T	COL2A1	c.-13C>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48398117G>T	(Likely) benign	1 lab	46b56858a9
12:133248930 POLE G>A	12	133248930	133248930	G	A	POLE	c.1687-22C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133248930G>A	(Likely) benign	1 lab	46b7df7a45
19:11213450 LDLR G>T	19	11213450	11213450	G	T	LDLR	c.301G>T	NM_000527.5	NP_000518.1:p.(Glu101Ter)	NC_000019.9:g.11213450G>T	(Likely) pathogenic	1 lab	46bfb580d6
18:47088678 LIPG G>T	18	47088678	47088678	G	T	LIPG	c.-1G>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088678G>T	(Likely) benign	1 lab	46c7d81c8d
17:59938780 BRIP1 A>G	17	59938780	59938780	A	G	BRIP1	c.93+28T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59938780A>G	(Likely) benign	1 lab	46c89c1166
16:88505278 ZNF469 G>C	16	88505278	88505278	G	C	ZNF469	c.11400G>C	NM_001367624.2	NP_001354553.1:p.(Gly3800=)	NC_000016.9:g.88505278G>C	(Likely) benign	1 lab	46cbd56e9d
2:238280613 COL6A3 G>A	2	238280613	238280613	G	A	COL6A3	c.4047C>T	NM_004369.4	NP_004360.2:p.(Asp1349=)	NC_000002.11:g.238280613G>A	(Likely) benign	1 lab	46cfcc073f
12:50502206 GPD1 A>G	12	50502206	50502206	A	G	GPD1	c.953+293A>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502206A>G	(Likely) benign	1 lab	46d1704016
17:75496361 SEPTIN9 A>G	17	75496361	75496361	A	G	SEPTIN9	c.*1621A>G	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75496361A>G	(Likely) benign	1 lab	46d21fb734
3:190876581 MISSING Ref too long to show for this DEL>G	3	190876581	190996069	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.190876582_190996069del	VUS	1 lab	46d48f643b
2:44100849 ABCG8 T>C	2	44100849	44100849	T	C	ABCG8	c.1212-77T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100849T>C	(Likely) benign	1 lab	46d8354a8e
3:195506425 MUC4 A>G	3	195506425	195506425	A	G	MUC4	c.12026T>C	NM_018406.7	NP_060876.5:p.(Val4009Ala)	NC_000003.11:g.195506425A>G	(Likely) benign	1 lab	46d9793cf4
2:212578319 ERBB4 A>G	2	212578319	212578319	A	G	ERBB4	c.938T>C	NM_005235.3	NP_005226.1:p.(Met313Thr)	NC_000002.11:g.212578319A>G	(Likely) benign	1 lab	46de4eac75
12:120150449 CIT ACATCCCCGTCGGGAAGG>A	12	120150449	120150468	ACATCCCCGTCGGGAAGG	A	CIT	c.4614_4630del	NM_001206999.2	NP_001193928.1:p.(Leu1539IlefsTer48)	NC_000012.11:g.120150452_120150468del	(Likely) pathogenic	1 lab	46deefd879
17:15134401 PMP22 G>A	17	15134401	15134401	G	A	PMP22	c.320-4C>T	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15134401G>A	(Likely) benign	1 lab	46e6b80c88
7:150648713 KCNH2 C>T	7	150648713	150648713	C	T	KCNH2	c.1768G>A	NM_000238.4	NP_000229.1:p.(Gly590Ser)	NC_000007.13:g.150648713C>T	(Likely) pathogenic	1 lab	46e7d94dae
15:44943869 SPG11 C>T	15	44943869	44943869	C	T	SPG11	c.1276G>A	NM_025137.4	NP_079413.3:p.(Glu426Lys)	NC_000015.9:g.44943869C>T	(Likely) benign	1 lab	46e9a9eaf8
9:137674627 COL5A1 A>G	9	137674627	137674627	A	G	COL5A1	c.2484+61A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137674627A>G	(Likely) benign	1 lab	46ec56239d
X:152770790 BGN G>C	X	152770790	152770790	G	C	BGN	c.333G>C	NM_001711.6	NP_001702.1:p.(Lys111Asn)	NC_000023.10:g.152770790G>C	(Likely) benign	1 lab	46eeff20f2
3:38936310 SCN11A A>G	3	38936310	38936310	A	G	SCN11A	c.2549T>C	NM_001349253.2	NP_001336182.1:p.(Leu850Pro)	NC_000003.11:g.38936310A>G	(Likely) benign	1 lab	46f079c29b
6:16146934 MYLIP C>T	6	16146934	16146934	C	T	MYLIP	c.1290C>T	NM_013262.4	NP_037394.2:p.(His430=)	NC_000006.11:g.16146934C>T	(Likely) benign	1 lab	46f3d90a2b
2:96969005 SNRNP200 C>T	2	96969005	96969005	C	T	SNRNP200	c.273G>A	NM_014014.5	NP_054733.2:p.(Ser91=)	NC_000002.11:g.96969005C>T	(Likely) benign	1 lab	46f8f7c79b
X:70444002 GJB1 T>A	X	70444002	70444002	T	A	GJB1	c.445T>A	NM_000166.6	NP_000157.1:p.(Phe149Ile)	NC_000023.10:g.70444002T>A	(Likely) pathogenic	1 lab	46f91e2e39
4:36310133 DTHD1 T>G	4	36310133	36310133	T	G	DTHD1	c.1225+18T>G	NM_001136536.5	NP_001130008.2:p.?	NC_000004.11:g.36310133T>G	(Likely) benign	1 lab	46fb593e50
4:22390204 ADGRA3 A>T	4	22390204	22390204	A	T	ADGRA3	c.3090T>A	NM_145290.4	NP_660333.2:p.(Val1030=)	NC_000004.11:g.22390204A>T	(Likely) benign	1 lab	4705902612
1:243437909 SDCCAG8 A>G	1	243437909	243437909	A	G	SDCCAG8	c.371A>G	NM_006642.5	NP_006633.1:p.(Asp124Gly)	NC_000001.10:g.243437909A>G	VUS	1 lab	470602624d
11:95621319 MTMR2 CCCT>C	11	95621319	95621323	CCCT	C	MTMR2	c.184_186del	NM_016156.6	NP_057240.3:p.(Arg62del)	NC_000011.9:g.95621321_95621323del	(Likely) benign	1 lab	4706127819
22:50901301 SBF1 G>A	22	50901301	50901301	G	A	SBF1	c.1966C>T	NM_002972.4	NP_002963.2:p.(Arg656Trp)	NC_000022.10:g.50901301G>A	VUS	1 lab	470984266b
11:119215433 MFRP C>T	11	119215433	119215433	C	T	MFRP	c.807G>A	NM_031433.4	NP_113621.1:p.(Gln269=)	NC_000011.9:g.119215433C>T	(Likely) benign	1 lab	470a4c2e59
17:8037291 MISSING G>Alt too long to show for this DUP	17	8037291	8386979	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8037292_8386979dup	VUS	1 lab	470d69c348
1:3347653 PRDM16 G>T	1	3347653	3347653	G	T	PRDM16	c.3502G>T	NM_022114.4	NP_071397.3:p.(Gly1168Cys)	NC_000001.10:g.3347653G>T	VUS	1 lab	470ebba7c2
2:179596992 TTN A>G	2	179596992	179596992	A	G	TTN	c.16704T>C	NM_001267550.2	NP_001254479.2:p.(Thr5568=)	NC_000002.11:g.179596992A>G	(Likely) benign	1 lab	47135268d6
20:32005549 SNTA1 C>T	20	32005549	32005549	C	T	SNTA1	c.677G>A	NM_003098.3	NP_003089.1:p.(Cys226Tyr)	NC_000020.10:g.32005549C>T	VUS	1 lab	471cef2941
X:118603729 SLC25A5 G>A	X	118603729	118603729	G	A	SLC25A5	c.217G>A	NM_001152.5	NP_001143.2:p.(Gly73Ser)	NC_000023.10:g.118603729G>A	(Likely) benign	1 lab	471d896012
3:139102170 COPB2 G>A	3	139102170	139102170	G	A	COPB2	c.111C>T	NM_004766.3	NP_004757.1:p.(Gly37=)	NC_000003.11:g.139102170G>A	(Likely) benign	1 lab	471f220ea9
9:43626716 SPATA31A6 G>A	9	43626716	43626716	G	A	SPATA31A6	c.1971C>T	NM_001145196.1	NP_001138668.1:p.(Phe657=)	NC_000009.11:g.43626716G>A	(Likely) benign	1 lab	4722a782c7
11:68675660 IGHMBP2 G>T	11	68675660	68675660	G	T	IGHMBP2	c.304G>T	NM_002180.3	NP_002171.2:p.(Ala102Ser)	NC_000011.9:g.68675660G>T	VUS	1 lab	4729c9bffc
11:108106895 ATM A>G	11	108106895	108106895	A	G	ATM	c.496+334A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108106895A>G	VUS	1 lab	4739558a8a
5:82808100 VCAN T>C	5	82808100	82808100	T	C	VCAN	c.927T>C	NM_004385.5	NP_004376.2:p.(Thr309=)	NC_000005.9:g.82808100T>C	(Likely) benign	1 lab	473976524d
X:9693808 GPR143 A>G	X	9693808	9693808	A	G	GPR143	c.1193T>C	NM_000273.3	NP_000264.2:p.(Leu398Pro)	NC_000023.10:g.9693808A>G	(Likely) benign	1 lab	473bcac7fa
16:15851663 MYH11 G>A	16	15851663	15851663	G	A	MYH11	c.1596+21C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15851663G>A	(Likely) benign	1 lab	473c52744d
10:85974267 CDHR1 C>T	10	85974267	85974267	C	T	CDHR1	c.2470C>T	NM_033100.4	NP_149091.1:p.(Gln824Ter)	NC_000010.10:g.85974267C>T	VUS	1 lab	473d42988a
5:177035498 B4GALT7 C>A	5	177035498	177035498	C	A	B4GALT7	c.640-42C>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177035498C>A	(Likely) benign	1 lab	4740c36f91
1:236978945 MTR T>C	1	236978945	236978945	T	C	MTR	c.651T>C	NM_000254.3	NP_000245.2:p.(Tyr217=)	NC_000001.10:g.236978945T>C	(Likely) benign	1 lab	4741729d24
11:19207886 CSRP3 C>G	11	19207886	19207886	C	G	CSRP3	c.291G>C	NM_003476.5	NP_003467.1:p.(Lys97Asn)	NC_000011.9:g.19207886C>G	VUS	1 lab	4742619469
15:72069563 THSD4 C>T	15	72069563	72069563	C	T	THSD4	c.2915-8C>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72069563C>T	(Likely) benign	1 lab	4742650b09
9:133730278 ABL1 A>G	9	133730278	133730278	A	G	ABL1	c.344A>G	NM_005157.6	NP_005148.2:p.(Tyr115Cys)	NC_000009.11:g.133730278A>G	VUS	1 lab	47433b2132
16:960983 LMF1 C>T	16	960983	960983	C	T	LMF1	c.611G>A	NM_022773.4	NP_073610.2:p.(Arg204Gln)	NC_000016.9:g.960983C>T	(Likely) benign	1 lab	4743b546d5
16:929578 LMF1 G>A	16	929578	929578	G	A	LMF1	c.490C>T	NM_001352018.2	NP_001338947.1:p.(Leu164=)	NC_000016.9:g.929578G>A	(Likely) benign	1 lab	4745f56bdd
11:102207490 BIRC3 G>C	11	102207490	102207490	G	C	BIRC3	c.1580-1G>C	NM_001165.5	NP_001156.1:p.?	NC_000011.9:g.102207490G>C	(Likely) pathogenic	1 lab	474c3d53ec
12:118105355 KSR2 G>T	12	118105355	118105355	G	T	KSR2	c.1095C>A	NM_173598.6	NP_775869.4:p.(Leu365=)	NC_000012.11:g.118105355G>T	(Likely) benign	1 lab	474ea67b89
16:84570923 MISSING Ref too long to show for this DEL>A	16	84570923	87277804	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.84570925_87277804del	(Likely) pathogenic	1 lab	475066e726
2:241659314 KIF1A C>A	2	241659314	241659314	C	A	KIF1A	c.4898G>T	NM_001244008.2	NP_001230937.1:p.(Ser1633Ile)	NC_000002.11:g.241659314C>A	VUS	1 lab	475adb6e6a
21:34625037 IFNAR2 C>G	21	34625037	34625037	C	G	IFNAR2	c.611C>G	NM_207585.3	NP_997468.1:p.(Thr204Arg)	NC_000021.8:g.34625037C>G	(Likely) benign	1 lab	475e1a86a4
13:86368724 SLITRK6 T>C	13	86368724	86368724	T	C	SLITRK6	c.1920A>G	NM_032229.3	NP_115605.2:p.(Lys640=)	NC_000013.10:g.86368724T>C	(Likely) benign	1 lab	476251cf09
1:12020753 PLOD1 C>T	1	12020753	12020753	C	T	PLOD1	c.1026C>T	NM_000302.4	NP_000293.2:p.(Ser342=)	NC_000001.10:g.12020753C>T	VUS	1 lab	4762b370a2
2:21228649 APOB A>G	2	21228649	21228649	A	G	APOB	c.11091T>C	NM_000384.3	NP_000375.3:p.(Gly3697=)	NC_000002.11:g.21228649A>G	(Likely) benign	1 lab	47637f7086
6:129763368 LAMA2 A>G	6	129763368	129763368	A	G	LAMA2	c.6269-840A>G	NM_001079823.2	NP_001073291.2:p.?	NC_000006.11:g.129763368A>G	(Likely) benign	1 lab	47654f5abd
14:23859533 MYH6 G>A	14	23859533	23859533	G	A	MYH6	c.3465C>T	NM_002471.4	NP_002462.2:p.(Ala1155=)	NC_000014.8:g.23859533G>A	(Likely) benign	1 lab	4769140cbd
15:48764830 FBN1 G>C	15	48764830	48764830	G	C	FBN1	c.4254C>G	NM_000138.5	NP_000129.3:p.(Gly1418=)	NC_000015.9:g.48764830G>C	(Likely) benign	1 lab	476a3e8801
16:46773949 MYLK3 G>C	16	46773949	46773949	G	C	MYLK3	c.568+20C>G	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46773949G>C	(Likely) benign	1 lab	476bdb4b98
6:129759852 LAMA2 G>T	6	129759852	129759852	G	T	LAMA2	c.6030G>T	NM_000426.4	NP_000417.3:p.(Gly2010=)	NC_000006.11:g.129759852G>T	(Likely) benign	1 lab	476dd9f088
1:216462653 USH2A C>T	1	216462653	216462653	C	T	USH2A	c.1940G>A	NM_206933.4	NP_996816.3:p.(Gly647Asp)	NC_000001.10:g.216462653C>T	VUS	1 lab	477817ad89
2:220079729 ABCB6 G>A	2	220079729	220079729	G	A	ABCB6	c.1230C>T	NM_005689.4	NP_005680.1:p.(Asn410=)	NC_000002.11:g.220079729G>A	(Likely) benign	1 lab	477cce329f
17:33428366 RAD51D G>A	17	33428366	33428366	G	A	RAD51D	c.757C>T	NM_002878.4	NP_002869.3:p.(Arg253Ter)	NC_000017.10:g.33428366G>A	(Likely) pathogenic	1 lab	477ec43f2a
22:20780140 SCARF2 G>T	22	20780140	20780140	G	T	SCARF2	c.2138C>A	NM_153334.7	NP_699165.3:p.(Thr713Lys)	NC_000022.10:g.20780140G>T	(Likely) benign	1 lab	477f46bf43
19:11224005 LDLR C>T	19	11224005	11224005	C	T	LDLR	c.1238C>T	NM_000527.5	NP_000518.1:p.(Thr413Met)	NC_000019.9:g.11224005C>T	(Likely) pathogenic	1 lab	47839e9ec2
19:50339682 MED25 G>T	19	50339682	50339682	G	T	MED25	c.2146+19G>T	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50339682G>T	(Likely) benign	1 lab	4786b43667
7:138566149 KIAA1549 A>G	7	138566149	138566149	A	G	KIAA1549	c.4214T>C	NM_020910.3	NP_065961.2:p.(Val1405Ala)	NC_000007.13:g.138566149A>G	(Likely) benign	1 lab	4787d46b67
12:125298879 SCARB1 C>T	12	125298879	125298879	C	T	SCARB1	c.499G>A	NM_005505.5	NP_005496.4:p.(Gly167Ser)	NC_000012.11:g.125298879C>T	VUS	1 lab	478cee0ab0
19:11210912 LDLR C>G	19	11210912	11210912	C	G	LDLR	c.81C>G	NM_000527.5	NP_000518.1:p.(Cys27Trp)	NC_000019.9:g.11210912C>G	(Likely) pathogenic	1 lab	4790c83dc3
13:32906518 BRCA2 T>TA	13	32906518	32906519	T	TA	BRCA2	c.904dup	NM_000059.4	NP_000050.3:p.(Thr302AsnfsTer3)	NC_000013.10:g.32906519dup	(Likely) pathogenic	1 lab	4790fedafb
1:218609086 TGFB2 A>G	1	218609086	218609086	A	G	TGFB2	c.755-226A>G	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218609086A>G	(Likely) benign	1 lab	4791d8ae59
17:41242952 BRCA1 G>T	17	41242952	41242952	G	T	BRCA1	c.4185+9C>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41242952G>T	(Likely) benign	1 lab	479243b838
1:156096575 LMNA G>T	1	156096575	156096575	G	T	LMNA	c.-19G>T	NM_001282624.2	NP_001269553.1:p.?	NC_000001.10:g.156096575G>T	(Likely) benign	1 lab	4796a68c3b
12:122252524 SETD1B G>A	12	122252524	122252524	G	A	SETD1B	c.2403G>A	NM_001353345.2	NP_001340274.1:p.(Ala801=)	NC_000012.11:g.122252524G>A	(Likely) benign	1 lab	4796eedf73
1:183536089 NCF2 A>G	1	183536089	183536089	A	G	NCF2	c.890T>C	NM_000433.4	NP_000424.2:p.(Val297Ala)	NC_000001.10:g.183536089A>G	(Likely) benign	1 lab	47a1c8708f
12:57963828 KIF5A G>A	12	57963828	57963828	G	A	KIF5A	c.1176G>A	NM_004984.4	NP_004975.2:p.(Glu392=)	NC_000012.11:g.57963828G>A	(Likely) benign	1 lab	47b5f3b966
2:189871580 COL3A1 T>C	2	189871580	189871580	T	C	COL3A1	c.3202-83T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871580T>C	(Likely) benign	1 lab	47ba72c17a
6:32489936 HLA-DRB5 T>A	6	32489936	32489936	T	A	HLA-DRB5	c.116A>T	NM_002125.4	NP_002116.2:p.(Gln39Leu)	NC_000006.11:g.32489936T>A	(Likely) benign	1 lab	47bfbabacc
10:46017633 MISSING T>Alt too long to show for this DUP	10	46017633	46171712	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.46017634_46171712dup	VUS	1 lab	47c98370c0
10:121432173 BAG3 G>A	10	121432173	121432173	G	A	BAG3	c.909+5G>A	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121432173G>A	(Likely) benign	1 lab	47ca2d5592
3:38621348 SCN5A C>T	3	38621348	38621348	C	T	SCN5A	c.3229-362G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38621348C>T	(Likely) benign	1 lab	47cc6f7d36
20:61458191 COL9A3 G>A	20	61458191	61458191	G	A	COL9A3	c.792+19G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61458191G>A	(Likely) benign	1 lab	47ccc87430
15:61867833 MISSING A>Alt too long to show for this DUP	15	61867833	62751621	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.61867835_62751621dup	VUS	1 lab	47cdf403b8
9:107560894 ABCA1 C>T	9	107560894	107560894	C	T	ABCA1	c.4944-15G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107560894C>T	(Likely) benign	1 lab	47d27d30cf
2:179400008 TTN T>TTCTGAAGGC	2	179400008	179400027	T	TTCTGAAGGC	TTN	c.101325_101333dup	NM_001267550.2	NP_001254479.2:p.(Ser33777_Pro33779dup)	NC_000002.11:g.179400019_179400027dup	VUS	1 lab	47e0614c6f
8:59409190 CYP7A1 G>T	8	59409190	59409190	G	T	CYP7A1	c.881C>A	NM_000780.4	NP_000771.2:p.(Thr294Asn)	NC_000008.10:g.59409190G>T	VUS	1 lab	47e28c6673
6:7585111 DSP T>C	6	7585111	7585111	T	C	DSP	c.7616T>C	NM_004415.4	NP_004406.2:p.(Val2539Ala)	NC_000006.11:g.7585111T>C	VUS	1 lab	47e857e8da
10:72614524 SGPL1 A>G	10	72614524	72614524	A	G	SGPL1	c.321A>G	NM_003901.4	NP_003892.2:p.(Lys107=)	NC_000010.10:g.72614524A>G	(Likely) benign	1 lab	47e9c94eb3
11:47366872 MYBPC3 C>T	11	47366872	47366872	C	T	MYBPC3	c.1090+886G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366872C>T	(Likely) benign	1 lab	47e9c9d9f6
2:1665868 PXDN G>A	2	1665868	1665868	G	A	PXDN	c.1656C>T	NM_012293.3	NP_036425.1:p.(Pro552=)	NC_000002.11:g.1665868G>A	(Likely) benign	1 lab	47eaf91963
3:38595795 SCN5A G>A	3	38595795	38595795	G	A	SCN5A	c.4788C>T	NM_001099404.2	NP_001092874.1:p.(Phe1596=)	NC_000003.11:g.38595795G>A	(Likely) benign	1 lab	47f72b6d1b
6:32011891 TNXB C>T	6	32011891	32011891	C	T	TNXB	c.11273G>A	NM_019105.8	NP_061978.6:p.(Arg3758His)	NC_000006.11:g.32011891C>T	VUS	1 lab	4801954330
10:73570295 CDH23 C>T	10	73570295	73570295	C	T	CDH23	c.9046C>T	NM_022124.6	NP_071407.4:p.(Arg3016Cys)	NC_000010.10:g.73570295C>T	VUS	1 lab	480aa97030
18:30902878 CCDC178 A>Alt too long to show for this DUP	18	30902878	30982927	A	Alt too long to show for this DUP	CCDC178	c.59-5755_1022+576dup	NM_001105528.4	NP_001098998.1:p.?	NC_000018.9:g.30902879_30982927dup	VUS	1 lab	480dd3df56
1:237608796 RYR2 A>G	1	237608796	237608796	A	G	RYR2	c.1266A>G	NM_001035.3	NP_001026.2:p.(Thr422=)	NC_000001.10:g.237608796A>G	(Likely) benign	1 lab	481bee9047
4:114280305 ANK2 C>T	4	114280305	114280305	C	T	ANK2	c.10531C>T	NM_001148.6	NP_001139.3:p.(Leu3511=)	NC_000004.11:g.114280305C>T	(Likely) benign	1 lab	4823301151
17:62748076 ARHGAP27P1-BPTFP1-KPNA2P3 TA>T	17	62748076	62748092	TA	T	ARHGAP27P1-BPTFP1-KPNA2P3	n.2236-3del	NR_026899.1		NC_000017.10:g.62748092del	(Likely) benign	1 lab	48251c2f0d
1:240371244 FMN2 G>T	1	240371244	240371244	G	T	FMN2	c.3144G>T	NM_001305424.2	NP_001292353.1:p.(Pro1048=)	NC_000001.10:g.240371244G>T	(Likely) benign	1 lab	482776fabf
4:48517080 FRYL A>T	4	48517080	48517080	A	T	FRYL	c.7902T>A	NM_015030.2	NP_055845.1:p.(Cys2634Ter)	NC_000004.11:g.48517080A>T	VUS	1 lab	48282e7d92
2:21233196 APOB CA>C	2	21233196	21233199	CA	C	APOB	c.6543del	NM_000384.3	NP_000375.3:p.(Phe2181LeufsTer14)	NC_000002.11:g.21233199del	(Likely) pathogenic	1 lab	4829b6ea15
5:11749476 CTNND2 Ref too long to show for this DEL>G	5	11749476	11848709	Ref too long to show for this DEL	G	CTNND2	c.37+55220_38-17093del	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11749477_11848709del	VUS	1 lab	482b4f148d
11:75508317 DGAT2 G>A	11	75508317	75508317	G	A	DGAT2	c.749G>A	NM_032564.5	NP_115953.2:p.(Gly250Asp)	NC_000011.9:g.75508317G>A	(Likely) benign	1 lab	482d93c131
17:39925792 JUP G>A	17	39925792	39925792	G	A	JUP	c.346C>T	NM_001352773.2	NP_001339702.1:p.(Leu116=)	NC_000017.10:g.39925792G>A	(Likely) benign	1 lab	4831d40c5c
X:41587218 CASK T>C	X	41587218	41587218	T	C	CASK	c.429+11419A>G	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41587218T>C	(Likely) benign	1 lab	4836110971
17:16694206 MISSING Ref too long to show for this DEL>C	17	16694206	20446723	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.16694208_20446723del	(Likely) pathogenic	1 lab	4838ceb839
17:75493457 SEPTIN9 CAG>C	17	75493457	75493459	CAG	C	SEPTIN9	c.1571+10_1571+11del	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75493458_75493459del	(Likely) benign	1 lab	483a3b3cc1
12:88508265 CEP290 G>A	12	88508265	88508265	G	A	CEP290	c.1984C>T	NM_025114.4	NP_079390.3:p.(Gln662Ter)	NC_000012.11:g.88508265G>A	(Likely) pathogenic	1 lab	483c3981ec
9:77241240 RORB Ref too long to show for this DEL>A	9	77241240	77258227	Ref too long to show for this DEL	A	RORB	c.8-3956_637+496del	NM_006914.4	NP_008845.2:p.?	NC_000009.11:g.77241242_77258227del	VUS	1 lab	483cad0fdb
2:179615959 TTN G>GT	2	179615959	179615960	G	GT	TTN	c.11167dup	NM_133379.5	NP_596870.2:p.(Thr3723AsnfsTer4)	NC_000002.11:g.179615960dup	VUS	1 lab	483f05b9be
12:30814313 IPO8 T>A	12	30814313	30814313	T	A	IPO8	c.1756-113A>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30814313T>A	(Likely) benign	1 lab	4845b99caf
1:12855895 PRAMEF1 A>G	1	12855895	12855895	A	G	PRAMEF1	c.1175A>G	NM_023013.4	NP_075389.2:p.(Asp392Gly)	NC_000001.10:g.12855895A>G	(Likely) benign	1 lab	4845ed4ac3
9:94817760 SPTLC1 C>G	9	94817760	94817760	C	G	SPTLC1	c.707G>C	NM_006415.4	NP_006406.1:p.(Arg236Pro)	NC_000009.11:g.94817760C>G	VUS	1 lab	48478bae5c
1:68910268 RPE65 T>C	1	68910268	68910268	T	C	RPE65	c.441A>G	NM_000329.3	NP_000320.1:p.(Thr147=)	NC_000001.10:g.68910268T>C	(Likely) benign	1 lab	484f4b5f99
1:65878627 DNAJC6 A>G	1	65878627	65878627	A	G	DNAJC6	c.2832A>G	NM_001256864.2	NP_001243793.1:p.(Glu944=)	NC_000001.10:g.65878627A>G	(Likely) benign	1 lab	484fa5b6bf
4:126336596 FAT4 A>G	4	126336596	126336596	A	G	FAT4	c.6478A>G	NM_001291303.3	NP_001278232.1:p.(Lys2160Glu)	NC_000004.11:g.126336596A>G	(Likely) benign	1 lab	485b6c280f
5:37169262 CPLANE1 C>T	5	37169262	37169262	C	T	CPLANE1	c.6864G>A	NM_023073.4	NP_075561.3:p.(Gln2288=)	NC_000005.9:g.37169262C>T	(Likely) benign	1 lab	485f490dd1
7:65825067 MISSING C>Alt too long to show for this DUP	7	65825067	65888470	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.65825069_65888470dup	VUS	1 lab	485f6d3965
7:128482672 FLNC A>G	7	128482672	128482672	A	G	FLNC	c.2309A>G	NM_001458.5	NP_001449.3:p.(Tyr770Cys)	NC_000007.13:g.128482672A>G	VUS	1 lab	4861280d57
3:108449100 MISSING Ref too long to show for this DEL>T	3	108449100	108494657	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.108449101_108494657del	VUS	1 lab	4882a7a617
8:43054563 HGSNAT G>A	8	43054563	43054563	G	A	HGSNAT	c.1846G>A	NM_001363227.2	NP_001350156.1:p.(Glu616Lys)	NC_000008.10:g.43054563G>A	(Likely) benign	1 lab	48641bb63f
17:10428924 MYH2 C>G	17	10428924	10428924	C	G	MYH2	c.4381G>C	NM_001100112.2	NP_001093582.1:p.(Glu1461Gln)	NC_000017.10:g.10428924C>G	VUS	1 lab	4864d0dfd7
11:108098525 ATM G>A	11	108098525	108098525	G	A	ATM	c.95G>A	NM_000051.4	NP_000042.3:p.(Arg32His)	NC_000011.9:g.108098525G>A	VUS	1 lab	486a10b1c0
1:192607645 MISSING Ref too long to show for this DEL>G	1	192607645	193151413	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.192607647_193151413del	(Likely) pathogenic	1 lab	486a5737a5
15:83042957 MISSING Ref too long to show for this DEL>A	15	83042957	84915261	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.83042958_84915261del	(Likely) pathogenic	1 lab	486ab9ee27
12:21327652 SLCO1B1 TAA>T	12	21327652	21327666	TAA	T	SLCO1B1	c.359+22_359+23del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327665_21327666del	(Likely) benign	1 lab	486c1227d6
2:114004337 PAX8 A>G	2	114004337	114004337	A	G	PAX8	c.185T>C	NM_003466.4	NP_003457.1:p.(Leu62Pro)	NC_000002.11:g.114004337A>G	VUS	1 lab	486c9f04f1
4:100485256 MTTP G>A	4	100485256	100485256	G	A	MTTP	c.4G>A	NM_001300785.1	NP_001287714.1:p.(Glu2Lys)	NC_000004.11:g.100485256G>A	VUS	1 lab	4872cccd71
10:67680162 CTNNA3 T>G	10	67680162	67680162	T	G	CTNNA3	c.2614A>C	NM_013266.4	NP_037398.2:p.(Arg872=)	NC_000010.10:g.67680162T>G	(Likely) benign	1 lab	48743f334f
16:67974104 LCAT GC>G	16	67974104	67974107	GC	G	LCAT	c.1025del	NM_000229.2	NP_000220.1:p.(Gly342AlafsTer68)	NC_000016.9:g.67974107del	VUS	1 lab	487514e939
2:170151227 LRP2 TAAAAAA>T	2	170151227	170151250	TAAAAAA	T	LRP2	c.428-13_428-8del	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170151245_170151250del	(Likely) benign	1 lab	48773c2fce
2:171348907 MISSING A>Alt too long to show for this DUP	2	171348907	171887398	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.171348909_171887398dup	VUS	1 lab	48c1378cb3
5:54527462 CCNO A>AC	5	54527462	54527468	A	AC	CCNO	c.793dup	NM_021147.5	NP_066970.3:p.(Val265GlyfsTer106)	NC_000005.9:g.54527468dup	(Likely) pathogenic	1 lab	4884fd9706
2:179417586 TTN C>T	2	179417586	179417586	C	T	TTN	c.90041G>A	NM_001267550.2	NP_001254479.2:p.(Gly30014Glu)	NC_000002.11:g.179417586C>T	VUS	1 lab	488b07d6db
9:113220738 SVEP1 A>G	9	113220738	113220738	A	G	SVEP1	c.3576+13T>C	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113220738A>G	(Likely) benign	1 lab	489822ac20
19:2905871 MISSING Ref too long to show for this DEL>C	19	2905871	2958245	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.2905873_2958245del	VUS	1 lab	489d52ce90
18:58039089 MC4R C>T	18	58039089	58039089	C	T	MC4R	c.494G>A	NM_005912.3	NP_005903.2:p.(Arg165Gln)	NC_000018.9:g.58039089C>T	(Likely) pathogenic	1 lab	48a2442c3f
12:133254253 POLE T>A	12	133254253	133254253	T	A	POLE	c.631A>T	NM_006231.4	NP_006222.2:p.(Ile211Leu)	NC_000012.11:g.133254253T>A	VUS	1 lab	48a5eae1f8
4:39274649 WDR19 G>A	4	39274649	39274649	G	A	WDR19	c.3533G>A	NM_025132.4	NP_079408.3:p.(Arg1178Gln)	NC_000004.11:g.39274649G>A	(Likely) pathogenic	1 lab	48a86d392e
17:48273524 COL1A1 C>T	17	48273524	48273524	C	T	COL1A1	c.994G>A	NM_000088.4	NP_000079.2:p.(Gly332Arg)	NC_000017.10:g.48273524C>T	(Likely) pathogenic	1 lab	48ac15a791
15:85403295 ALPK3 A>G	15	85403295	85403295	A	G	ALPK3	c.4121A>G	NM_020778.5	NP_065829.4:p.(Glu1374Gly)	NC_000015.9:g.85403295A>G	VUS	1 lab	48b122f630
8:145625673 CPSF1 G>A	8	145625673	145625673	G	A	CPSF1	c.827-3C>T	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145625673G>A	(Likely) benign	1 lab	48b13c37b8
19:18001765 SLC5A5 G>A	19	18001765	18001765	G	A	SLC5A5	c.1722G>A	NM_000453.3	NP_000444.1:p.(Val574=)	NC_000019.9:g.18001765G>A	(Likely) benign	1 lab	48b78cf908
11:1016989 MUC6 T>C	11	1016989	1016989	T	C	MUC6	c.5812A>G	NM_005961.3	NP_005952.2:p.(Ile1938Val)	NC_000011.9:g.1016989T>C	(Likely) benign	1 lab	48ba9ed26c
9:137717622 COL5A1 C>T	9	137717622	137717622	C	T	COL5A1	c.4955-16C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137717622C>T	(Likely) benign	1 lab	48baf5124d
19:46393965 MYPOP C>G	19	46393965	46393965	C	G	MYPOP	c.1116G>C	NM_001012643.4	NP_001012661.1:p.(Pro372=)	NC_000019.9:g.46393965C>G	(Likely) benign	1 lab	48bdf5c230
15:48805654 FBN1 C>A	15	48805654	48805654	C	A	FBN1	c.1588+92G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48805654C>A	(Likely) benign	1 lab	48c3e46e37
12:30826717 IPO8 C>T	12	30826717	30826717	C	T	IPO8	c.909+207G>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30826717C>T	(Likely) benign	1 lab	48c58eee55
19:11224010 LDLR G>C	19	11224010	11224010	G	C	LDLR	c.1243G>C	NM_000527.5	NP_000518.1:p.(Asp415His)	NC_000019.9:g.11224010G>C	(Likely) pathogenic	1 lab	48c6d025c6
9:107593940 ABCA1 T>C	9	107593940	107593940	T	C	ABCA1	c.1678A>G	NM_005502.4	NP_005493.2:p.(Ile560Val)	NC_000009.11:g.107593940T>C	VUS	1 lab	48caa7a907
11:47356912 MYBPC3 C>CTA	11	47356912	47356914	C	CTA	MYBPC3	c.2738-153_2738-152insTA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356913_47356914insAT	(Likely) benign	1 lab	48cad9a6f7
12:125299369 SCARB1 A>G	12	125299369	125299369	A	G	SCARB1	c.426+150T>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125299369A>G	(Likely) benign	1 lab	48ce37bc52
1:61554013 NFIA C>T	1	61554013	61554013	C	T	NFIA	c.220C>T	NM_005595.5	NP_005586.1:p.(Arg74Ter)	NC_000001.10:g.61554013C>T	(Likely) pathogenic	1 lab	48d3952bea
17:63185403 RGS9 GAAAC>G	17	63185403	63185412	GAAAC	G	RGS9	c.651_654del	NM_001165933.2	NP_001159405.1:p.(Thr218SerfsTer15)	NC_000017.10:g.63185409_63185412del	(Likely) pathogenic	1 lab	48d4a76be2
14:23856971 MYH6 A>C	14	23856971	23856971	A	C	MYH6	c.4521T>G	NM_002471.4	NP_002462.2:p.(Leu1507=)	NC_000014.8:g.23856971A>C	(Likely) benign	1 lab	48d697244d
9:139222174 GPSM1 T>C	9	139222174	139222174	T	C	GPSM1	c.23=	NM_001145638.3	NP_001139110.2:p.(Ala8=)	NC_000009.11:g.139222174T>C	(Likely) benign	1 lab	48da4e5de9
22:18077386 ATP6V1E1 C>CA	22	18077386	18077396	C	CA	ATP6V1E1	c.531-5dup	NM_001696.4	NP_001687.1:p.?	NC_000022.10:g.18077396dup	(Likely) benign	1 lab	48dac02dc2
2:27305611 EMILIN1 C>A	2	27305611	27305611	C	A	EMILIN1	c.1172C>A	NM_007046.4	NP_008977.1:p.(Ala391Glu)	NC_000002.11:g.27305611C>A	(Likely) benign	1 lab	48dad730c6
10:88992733 NUTM2A C>T	10	88992733	88992733	C	T	NUTM2A	c.1725C>T	NM_001099338.2	NP_001092808.1:p.(Phe575=)	NC_000010.10:g.88992733C>T	(Likely) benign	1 lab	48db072b04
18:58038715 MC4R G>C	18	58038715	58038715	G	C	MC4R	c.868C>G	NM_005912.3	NP_005903.2:p.(Leu290Val)	NC_000018.9:g.58038715G>C	VUS	1 lab	48e1dbb659
19:50912508 POLD1 C>T	19	50912508	50912508	C	T	POLD1	c.2006+16C>T	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50912508C>T	(Likely) benign	1 lab	48e47174b2
10:73454036 CDH23 G>A	10	73454036	73454036	G	A	CDH23	c.2289+20G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73454036G>A	(Likely) benign	1 lab	48e8b2ecb9
1:874778 SAMD11 GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA>G	1	874778	874864	GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	G	SAMD11	c.683_706+24del	NM_152486.3	NP_689699.2:p.?	NC_000001.10:g.874817_874864del	(Likely) benign	1 lab	48e8cb6370
11:68704270 IGHMBP2 A>G	11	68704270	68704270	A	G	IGHMBP2	c.2322A>G	NM_002180.3	NP_002171.2:p.(Glu774=)	NC_000011.9:g.68704270A>G	(Likely) benign	1 lab	48eb59f790
18:29116193 DSG2 A>G	18	29116193	29116193	A	G	DSG2	c.1452A>G	NM_001943.5	NP_001934.2:p.(Thr484=)	NC_000018.9:g.29116193A>G	(Likely) benign	1 lab	48f3ad1595
X:37869790 SYTL5 Ref too long to show for this DEL>G	X	37869790	37889002	Ref too long to show for this DEL	G	SYTL5	c.-357+3871_-356-3785del	NM_138780.3	NP_620135.1:p.?	NC_000023.10:g.37869792_37889002del	VUS	1 lab	4905ce1509
16:56533763 BBS2 G>A	16	56533763	56533763	G	A	BBS2	c.1454C>T	NM_031885.5	NP_114091.4:p.(Ala485Val)	NC_000016.9:g.56533763G>A	VUS	1 lab	4906f0af11
22:50886703 SBF1 G>T	22	50886703	50886703	G	T	SBF1	c.5322C>A	NM_002972.4	NP_002963.2:p.(Ser1774Arg)	NC_000022.10:g.50886703G>T	VUS	1 lab	490720a26e
5:171299942 FBXW11 C>T	5	171299942	171299942	C	T	FBXW11	c.1211G>A	NM_012300.3	NP_036432.2:p.(Arg404Gln)	NC_000005.9:g.171299942C>T	VUS	1 lab	490782c318
2:179642698 TTN G>C	2	179642698	179642698	G	C	TTN	c.4213C>G	NM_001267550.2	NP_001254479.2:p.(Leu1405Val)	NC_000002.11:g.179642698G>C	VUS	1 lab	490dc0fb4b
11:47363737 MYBPC3 G>A	11	47363737	47363737	G	A	MYBPC3	c.1625-30C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363737G>A	(Likely) benign	1 lab	490f9d5956
19:11242133 LDLR G>A	19	11242133	11242133	G	A	LDLR	c.*141G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242133G>A	(Likely) benign	1 lab	490fd0561d
5:82808061 VCAN C>T	5	82808061	82808061	C	T	VCAN	c.888C>T	NM_004385.5	NP_004376.2:p.(Tyr296=)	NC_000005.9:g.82808061C>T	(Likely) benign	1 lab	4911a8640b
7:100401098 EPHB4 C>A	7	100401098	100401098	C	A	EPHB4	c.2949G>T	NM_004444.5	NP_004435.3:p.(Pro983=)	NC_000007.13:g.100401098C>A	(Likely) benign	1 lab	491764a28c
1:12062126 MFN2 A>G	1	12062126	12062126	A	G	MFN2	c.1126A>G	NM_014874.4	NP_055689.1:p.(Met376Val)	NC_000001.10:g.12062126A>G	(Likely) pathogenic	1 lab	4917e3b3a9
11:116661041 APOA5 C>G	11	116661041	116661041	C	G	APOA5	c.904G>C	NM_052968.5	NP_443200.2:p.(Ala302Pro)	NC_000011.9:g.116661041C>G	(Likely) pathogenic	1 lab	491ba99c4c
14:76425690 TGFB3 T>A	14	76425690	76425690	T	A	TGFB3	c.1081-2A>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76425690T>A	(Likely) pathogenic	1 lab	49216d1192
19:11216213 LDLR C>T	19	11216213	11216213	C	T	LDLR	c.631C>T	NM_000527.5	NP_000518.1:p.(His211Tyr)	NC_000019.9:g.11216213C>T	(Likely) pathogenic	1 lab	492400f419
12:57863288 GLI1 A>C	12	57863288	57863288	A	C	GLI1	c.1383A>C	NM_005269.3	NP_005260.1:p.(Thr461=)	NC_000012.11:g.57863288A>C	(Likely) benign	1 lab	4927694454
12:1909561 CACNA2D4 T>C	12	1909561	1909561	T	C	CACNA2D4	c.2912A>G	NM_172364.5	NP_758952.4:p.(Glu971Gly)	NC_000012.11:g.1909561T>C	VUS	1 lab	492b1bf517
19:11217296 LDLR T>C	19	11217296	11217296	T	C	LDLR	c.750T>C	NM_000527.5	NP_000518.1:p.(His250=)	NC_000019.9:g.11217296T>C	(Likely) benign	1 lab	492d936aa0
17:44073796 MAPT C>G	17	44073796	44073796	C	G	MAPT	c.588C>G	NM_005910.6	NP_005901.2:p.(Gly196=)	NC_000017.10:g.44073796C>G	(Likely) benign	1 lab	4931232268
1:25880520 LDLRAP1 C>T	1	25880520	25880520	C	T	LDLRAP1	c.196C>T	NM_015627.3	NP_056442.2:p.(Leu66=)	NC_000001.10:g.25880520C>T	(Likely) benign	1 lab	4940d68a55
4:106370579 PPA2 C>A	4	106370579	106370579	C	A	PPA2	c.268-19G>T	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106370579C>A	(Likely) benign	1 lab	494a9601f2
X:49033372 PRICKLE3 G>A	X	49033372	49033372	G	A	PRICKLE3	c.1135C>T	NM_006150.5	NP_006141.2:p.(Arg379Cys)	NC_000023.10:g.49033372G>A	VUS	1 lab	494b3e94aa
2:44047047 ABCG5 A>G	2	44047047	44047047	A	G	ABCG5	c.1649+7T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047047A>G	(Likely) benign	1 lab	494b53a0c4
6:32011495 TNXB ACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGTGAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCATAGCGAGCGCCTGGGATCAGCC>A	6	32011495	32011618	ACCTCTTGCCCCGGGTCCCAGTCCATCTCACCCGTGGTGAGGAAGCCTGTGAGAGGCTCACTCTCCTCAAAGCCTCGGACCGAGACCACGGTCACCTCATAGCGAGCGCCTGGGATCAGCC	A	TNXB	c.11435_11524+30del	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011499_32011618del	(Likely) pathogenic	1 lab	495051ae8b
1:25889632 LDLRAP1 T>A	1	25889632	25889632	T	A	LDLRAP1	c.604T>A	NM_015627.3	NP_056442.2:p.(Ser202Thr)	NC_000001.10:g.25889632T>A	VUS	1 lab	49524a9387
1:111146638 KCNA2 T>C	1	111146638	111146638	T	C	KCNA2	c.767A>G	NM_004974.4	NP_004965.1:p.(Asn256Ser)	NC_000001.10:g.111146638T>C	VUS	1 lab	4952ab7cc7
1:237735296 RYR2 A>Alt too long to show for this DUP	1	237735296	237774614	A	Alt too long to show for this DUP	RYR2	c.3598+2678_4910+326dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237735297_237774614dup	VUS	1 lab	4952ba3b88
14:23888676 MYH7 C>T	14	23888676	23888676	C	T	MYH7	c.3853+16G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23888676C>T	(Likely) benign	1 lab	4952f9379c
7:128480071 FLNC C>T	7	128480071	128480071	C	T	FLNC	c.1412-6C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480071C>T	(Likely) benign	1 lab	49545b9d0a
8:87738897 CNGB3 A>C	8	87738897	87738897	A	C	CNGB3	c.212-12T>G	NM_019098.5	NP_061971.3:p.?	NC_000008.10:g.87738897A>C	(Likely) benign	1 lab	4955dc9158
14:76437969 TGFB3 C>T	14	76437969	76437969	C	T	TGFB3	c.445G>A	NM_003239.5	NP_003230.1:p.(Ala149Thr)	NC_000014.8:g.76437969C>T	VUS	1 lab	4956d3e3b8
X:148098366 MISSING Ref too long to show for this DEL>A	X	148098366	148585988	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.148098368_148585988del	(Likely) pathogenic	1 lab	496540655d
15:63336202 TPM1 C>CTGTA	15	63336202	63336206	C	CTGTA	TPM1	c.115-23_115-20dup	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63336203_63336206dup	VUS	1 lab	496a202fee
15:48892567 FBN1 G>A	15	48892567	48892567	G	A	FBN1	c.347-136C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48892567G>A	(Likely) benign	1 lab	496c86323f
22:38508553 PLA2G6 C>T	22	38508553	38508553	C	T	PLA2G6	c.1700G>A	NM_001349867.2	NP_001336796.1:p.(Arg567Gln)	NC_000022.10:g.38508553C>T	VUS	1 lab	49749e63b4
10:112583189 RBM20 CTTTTTTTTTTT>C	10	112583189	112583216	CTTTTTTTTTTT	C	RBM20	c.3317-32_3317-22del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112583206_112583216del	(Likely) benign	1 lab	497557a00c
15:85405949 ALPK3 C>T	15	85405949	85405949	C	T	ALPK3	c.4213C>T	NM_020778.5	NP_065829.4:p.(Arg1405Ter)	NC_000015.9:g.85405949C>T	(Likely) pathogenic	1 lab	49764b0880
2:169820808 ABCB11 G>T	2	169820808	169820808	G	T	ABCB11	c.2086C>A	NM_003742.4	NP_003733.2:p.(Arg696=)	NC_000002.11:g.169820808G>T	(Likely) benign	1 lab	49765f2ef6
15:76646455 SCAPER G>C	15	76646455	76646455	G	C	SCAPER	c.3900C>G	NM_001353009.2	NP_001339938.1:p.(Pro1300=)	NC_000015.9:g.76646455G>C	(Likely) benign	1 lab	497dd93a39
17:41245586 BRCA1 C>CT	17	41245586	41245594	C	CT	BRCA1	c.1961dup	NM_007294.4	NP_009225.1:p.(Tyr655ValfsTer18)	NC_000017.10:g.41245594dup	(Likely) pathogenic	1 lab	49824be906
8:10470539 RP1L1 G>T	8	10470539	10470539	G	T	RP1L1	c.1069C>A	NM_178857.6	NP_849188.4:p.(Pro357Thr)	NC_000008.10:g.10470539G>T	VUS	1 lab	4986c7dd90
12:89861383 POC1B G>C	12	89861383	89861383	G	C	POC1B	c.879+11C>G	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89861383G>C	(Likely) benign	1 lab	498b06db4c
7:91682028 AKAP9 C>G	7	91682028	91682028	C	G	AKAP9	c.5369-12C>G	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91682028C>G	VUS	1 lab	49b30abf51
3:184224661 MISSING Ref too long to show for this DEL>G	3	184224661	187805836	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.184224662_187805836del	(Likely) pathogenic	1 lab	498c07565d
X:70443781 GJB1 G>C	X	70443781	70443781	G	C	GJB1	c.224G>C	NM_000166.6	NP_000157.1:p.(Arg75Pro)	NC_000023.10:g.70443781G>C	(Likely) pathogenic	1 lab	4990f73ecd
10:12458031 CAMK1D T>Alt too long to show for this DUP	10	12458031	12554298	T	Alt too long to show for this DUP	CAMK1D	c.92+66123_93-40926dup	NM_153498.4	NP_705718.1:p.?	NC_000010.10:g.12458032_12554298dup	VUS	1 lab	49917412cb
8:59410963 CYP7A1 C>T	8	59410963	59410963	C	T	CYP7A1	c.146G>A	NM_000780.4	NP_000771.2:p.(Gly49Asp)	NC_000008.10:g.59410963C>T	VUS	1 lab	4991dc5c05
6:95936812 MISSING A>Alt too long to show for this DUP	6	95936812	96162725	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.95936813_96162725dup	VUS	1 lab	49a2468fd0
9:138606581 KCNT1 C>CGG	9	138606581	138606585	C	CGG	KCNT1	c.254+18_254+19dup	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138606584_138606585dup	(Likely) benign	1 lab	49a29baaa2
16:87657569 MISSING Ref too long to show for this DEL>G	16	87657569	87774187	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.87657571_87774187del	VUS	1 lab	49a764634d
10:73567433 CDH23 G>C	10	73567433	73567433	G	C	CDH23	c.8469G>C	NM_022124.6	NP_071407.4:p.(Leu2823=)	NC_000010.10:g.73567433G>C	(Likely) benign	1 lab	49aa9adaa6
19:17449399 GTPBP3 C>T	19	17449399	17449399	C	T	GTPBP3	c.440C>T	NM_133644.4	NP_598399.2:p.(Ala147Val)	NC_000019.9:g.17449399C>T	(Likely) pathogenic	1 lab	49aadb4502
15:72103825 NR2E3 G>A	15	72103825	72103825	G	A	NR2E3	c.121G>A	NM_016346.4	NP_057430.1:p.(Val41Met)	NC_000015.9:g.72103825G>A	VUS	1 lab	49ab607464
7:130042473 CEP41 G>A	7	130042473	130042473	G	A	CEP41	c.574+16C>T	NM_018718.3	NP_061188.1:p.?	NC_000007.13:g.130042473G>A	(Likely) benign	1 lab	49ae84338a
9:139889151 CLIC3 G>A	9	139889151	139889151	G	A	CLIC3	c.693C>T	NM_004669.3	NP_004660.2:p.(Pro231=)	NC_000009.11:g.139889151G>A	(Likely) benign	1 lab	49af4aa1f3
9:40773424 ZNF658 G>A	9	40773424	40773424	G	A	ZNF658	c.1851C>T	NM_001317916.2	NP_001304845.1:p.(Leu617=)	NC_000009.11:g.40773424G>A	(Likely) benign	1 lab	49b93050d3
2:238249270 COL6A3 T>G	2	238249270	238249270	T	G	COL6A3	c.8289A>C	NM_004369.4	NP_004360.2:p.(Lys2763Asn)	NC_000002.11:g.238249270T>G	VUS	1 lab	49c14b5328
19:45409917 APOE C>A	19	45409917	45409917	C	A	APOE	c.114C>A	NM_001302688.2	NP_001289617.1:p.(Phe38Leu)	NC_000019.9:g.45409917C>A	VUS	1 lab	49c2306bcb
3:50229224 GNAT1 C>T	3	50229224	50229224	C	T	GNAT1	c.66C>T	NM_144499.3	NP_653082.1:p.(Asp22=)	NC_000003.11:g.50229224C>T	(Likely) benign	1 lab	49cb83c0c0
2:1488506 TPO G>A	2	1488506	1488506	G	A	TPO	c.1477G>A	NM_000547.6	NP_000538.3:p.(Gly493Ser)	NC_000002.11:g.1488506G>A	(Likely) pathogenic	1 lab	49d28abb1a
2:21225714 APOB T>C	2	21225714	21225714	T	C	APOB	c.12580A>G	NM_000384.3	NP_000375.3:p.(Ile4194Val)	NC_000002.11:g.21225714T>C	VUS	1 lab	49d7134c95
18:10794753 PIEZO2 G>A	18	10794753	10794753	G	A	PIEZO2	c.1758+17C>T	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10794753G>A	(Likely) benign	1 lab	49e0e997b9
2:21225110 APOB C>T	2	21225110	21225110	C	T	APOB	c.13184G>A	NM_000384.3	NP_000375.3:p.(Gly4395Asp)	NC_000002.11:g.21225110C>T	VUS	1 lab	49f0f4ba2e
11:76905581 MYO7A G>A	11	76905581	76905581	G	A	MYO7A	c.4323+12G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76905581G>A	(Likely) benign	1 lab	49f90951e6
X:70443938 GJB1 C>G	X	70443938	70443938	C	G	GJB1	c.381C>G	NM_000166.6	NP_000157.1:p.(Ile127Met)	NC_000023.10:g.70443938C>G	(Likely) pathogenic	1 lab	49fd7251c9
15:48744449 FBN1 T>A	15	48744449	48744449	T	A	FBN1	c.5545+310A>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48744449T>A	(Likely) benign	1 lab	4a08999ee9
12:21375306 SLCO1B1 GAAAAAAAAAA>G	12	21375306	21375332	GAAAAAAAAAA	G	SLCO1B1	c.1747+25_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375323_21375332del	(Likely) benign	1 lab	4a0a5abf83
11:65307943 LTBP3 G>T	11	65307943	65307943	G	T	LTBP3	c.3106+14C>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307943G>T	(Likely) benign	1 lab	4a0d37e381
8:75272506 GDAP1 G>T	8	75272506	75272506	G	T	GDAP1	c.445G>T	NM_018972.4	NP_061845.2:p.(Asp149Tyr)	NC_000008.10:g.75272506G>T	(Likely) pathogenic	1 lab	4a321b40d5
13:30004208 MISSING A>Alt too long to show for this DUP	13	30004208	30101566	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.30004210_30101566dup	VUS	1 lab	4a15fcad6f
12:21330020 SLCO1B1 G>A	12	21330020	21330020	G	A	SLCO1B1	c.481+189G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21330020G>A	(Likely) benign	1 lab	4a1cd74b55
14:64554517 SYNE2 A>G	14	64554517	64554517	A	G	SYNE2	c.11613A>G	NM_182914.3	NP_878918.2:p.(Val3871=)	NC_000014.8:g.64554517A>G	(Likely) benign	1 lab	4a1f1306d2
1:161748124 ATF6 A>G	1	161748124	161748124	A	G	ATF6	c.159+14A>G	NM_007348.4	NP_031374.2:p.?	NC_000001.10:g.161748124A>G	(Likely) benign	1 lab	4a1fddca7e
9:100778188 MISSING A>Alt too long to show for this DUP	9	100778188	101002603	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.100778189_101002603dup	VUS	1 lab	4a22502ecd
17:45216172 CDC27 A>G	17	45216172	45216172	A	G	CDC27	c.1655T>C	NM_001114091.4	NP_001107563.1:p.(Leu552Pro)	NC_000017.10:g.45216172A>G	(Likely) benign	1 lab	4a23241393
17:27086248 FAM222B G>T	17	27086248	27086248	G	T	FAM222B	c.735C>A	NM_001288631.2	NP_001275560.1:p.(Thr245=)	NC_000017.10:g.27086248G>T	(Likely) benign	1 lab	4a28b6f64c
11:68207228 LRP5 C>T	11	68207228	68207228	C	T	LRP5	c.2606-17C>T	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68207228C>T	(Likely) benign	1 lab	4a29081ec3
12:112036779 ATXN2 C>T	12	112036779	112036779	C	T	ATXN2	c.60G>A	NM_002973.4	NP_002964.4:p.(Gln20=)	NC_000012.11:g.112036779C>T	(Likely) benign	1 lab	4a2a69d77b
8:114105695 CSMD3 Ref too long to show for this DEL>G	8	114105695	114213997	Ref too long to show for this DEL	G	CSMD3	c.515-27850_917+5289del	NM_198123.2	NP_937756.1:p.?	NC_000008.10:g.114105698_114213997del	VUS	1 lab	4a3111485a
X:70444098 GJB1 G>A	X	70444098	70444098	G	A	GJB1	c.541G>A	NM_000166.6	NP_000157.1:p.(Val181Met)	NC_000023.10:g.70444098G>A	(Likely) pathogenic	1 lab	4a33fd0936
16:3639058 SLX4 C>T	16	3639058	3639058	C	T	SLX4	c.4581G>A	NM_032444.4	NP_115820.2:p.(Pro1527=)	NC_000016.9:g.3639058C>T	(Likely) benign	1 lab	4a347679ee
12:125292383 SCARB1 C>T	12	125292383	125292383	C	T	SCARB1	c.933G>A	NM_005505.5	NP_005496.4:p.(Gly311=)	NC_000012.11:g.125292383C>T	(Likely) benign	1 lab	4a3ef6105c
X:153649071 TAFAZZIN G>A	X	153649071	153649071	G	A	TAFAZZIN	c.774G>A	NM_000116.5	NP_000107.1:p.(Ser258=)	NC_000023.10:g.153649071G>A	(Likely) benign	1 lab	4a44e6c52e
2:179641711 TTN C>T	2	179641711	179641711	C	T	TTN	c.4880G>A	NM_001267550.2	NP_001254479.2:p.(Trp1627Ter)	NC_000002.11:g.179641711C>T	(Likely) pathogenic	1 lab	4a476b8e77
17:48270845 COL1A1 C>CTT	17	48270845	48270860	C	CTT	COL1A1	c.1768-439_1768-438dup	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48270859_48270860dup	(Likely) benign	1 lab	4a4850a400
13:32250665 MISSING Ref too long to show for this DEL>T	13	32250665	32339213	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.32250666_32339213del	VUS	1 lab	4a52dadd07
15:40764498 CHST14 T>C	15	40764498	40764498	T	C	CHST14	c.1086T>C	NM_130468.4	NP_569735.1:p.(Phe362=)	NC_000015.9:g.40764498T>C	(Likely) benign	1 lab	4a5346c8be
16:929744 LMF1 G>A	16	929744	929744	G	A	LMF1	c.730-7C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929744G>A	(Likely) benign	1 lab	4a53f0faac
X:24197497 ZFX G>T	X	24197497	24197497	G	T	ZFX	c.256G>T	NM_003410.4	NP_003401.2:p.(Asp86Tyr)	NC_000023.10:g.24197497G>T	VUS	1 lab	4a57f9e1c0
19:9009582 MUC16 A>G	19	9009582	9009582	A	G	MUC16	c.39138+6T>C	NM_024690.2	NP_078966.2:p.?	NC_000019.9:g.9009582A>G	(Likely) benign	1 lab	4a6425c542
16:89747906 MISSING Ref too long to show for this DEL>C	16	89747906	90155062	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.89747907_90155062del	(Likely) pathogenic	1 lab	4a643ec0d7
12:21294593 SLCO1B1 G>A	12	21294593	21294593	G	A	SLCO1B1	c.84+1G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21294593G>A	(Likely) benign	1 lab	4a67c6e8fe
2:21245726 APOB T>C	2	21245726	21245726	T	C	APOB	c.2793A>G	NM_000384.3	NP_000375.3:p.(Arg931=)	NC_000002.11:g.21245726T>C	(Likely) benign	1 lab	4a68507f93
9:107576482 ABCA1 C>T	9	107576482	107576482	C	T	ABCA1	c.3818G>A	NM_005502.4	NP_005493.2:p.(Arg1273Gln)	NC_000009.11:g.107576482C>T	VUS	1 lab	4a6b8a621d
10:18037367 MISSING A>Alt too long to show for this DUP	10	18037367	18223634	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.18037368_18223634dup	VUS	1 lab	4a71286169
18:34232736 FHOD3 G>A	18	34232736	34232736	G	A	FHOD3	c.1490G>A	NM_001281740.3	NP_001268669.1:p.(Arg497Gln)	NC_000018.9:g.34232736G>A	VUS	1 lab	4a74d75a81
10:88476108 LDB3 C>A	10	88476108	88476108	C	A	LDB3	c.1271C>A	NM_001171610.2	NP_001165081.1:p.(Ser424Tyr)	NC_000010.10:g.88476108C>A	VUS	1 lab	4a74ec7e8b
1:200587726 KIF14 C>T	1	200587726	200587726	C	T	KIF14	c.126G>A	NM_014875.3	NP_055690.1:p.(Ser42=)	NC_000001.10:g.200587726C>T	(Likely) benign	1 lab	4a7a425d22
16:57016127 CETP G>A	16	57016127	57016127	G	A	CETP	c.1299G>A	NM_000078.3	NP_000069.2:p.(Val433=)	NC_000016.9:g.57016127G>A	(Likely) benign	1 lab	4a7e478da6
3:40140091 MYRIP Ref too long to show for this DEL>G	3	40140091	40185125	Ref too long to show for this DEL	G	MYRIP	c.333-52447_333-7414del	NM_015460.4	NP_056275.2:p.?	NC_000003.11:g.40140092_40185125del	VUS	1 lab	4a7f4e3e95
8:61754430 CHD7 A>G	8	61754430	61754430	A	G	CHD7	c.4669A>G	NM_017780.4	NP_060250.2:p.(Arg1557Gly)	NC_000008.10:g.61754430A>G	(Likely) pathogenic	1 lab	4a8169034a
2:179400313 TTN T>A	2	179400313	179400313	T	A	TTN	c.101029A>T	NM_001267550.2	NP_001254479.2:p.(Ile33677Phe)	NC_000002.11:g.179400313T>A	VUS	1 lab	4a88114efd
16:984416 LMF1 G>A	16	984416	984416	G	A	LMF1	c.-51-162C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.984416G>A	(Likely) benign	1 lab	4a9030ce36
1:156106106 LMNA A>G	1	156106106	156106106	A	G	LMNA	c.1259A>G	NM_170707.4	NP_733821.1:p.(Lys420Arg)	NC_000001.10:g.156106106A>G	VUS	1 lab	4a91050adf
22:41575606 MISSING G>Alt too long to show for this DUP	22	41575606	41619710	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.41575608_41619710dup	VUS	1 lab	4a91e24153
16:88503295 ZNF469 C>G	16	88503295	88503295	C	G	ZNF469	c.9417C>G	NM_001367624.2	NP_001354553.1:p.(Pro3139=)	NC_000016.9:g.88503295C>G	(Likely) benign	1 lab	4a959cdf34
12:33030886 PKP2 C>T	12	33030886	33030886	C	T	PKP2	c.928G>A	NM_004572.4	NP_004563.2:p.(Val310Met)	NC_000012.11:g.33030886C>T	VUS	1 lab	4a963cbc58
19:45412360 APOE C>G	19	45412360	45412360	C	G	APOE	c.885C>G	NM_001302688.2	NP_001289617.1:p.(Arg295=)	NC_000019.9:g.45412360C>G	(Likely) benign	1 lab	4a977f67d0
5:127644697 FBN2 C>G	5	127644697	127644697	C	G	FBN2	c.5353+242G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644697C>G	(Likely) benign	1 lab	4a97874141
21:46897852 COL18A1 C>T	21	46897852	46897852	C	T	COL18A1	c.2439C>T	NM_130444.3	NP_569711.2:p.(Asp813=)	NC_000021.8:g.46897852C>T	(Likely) benign	1 lab	4a994c8214
8:38959366 ADAM9 T>A	8	38959366	38959366	T	A	ADAM9	c.2299-16T>A	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38959366T>A	(Likely) benign	1 lab	4a9a095fa7
15:40914059 KNL1 A>AATGTAAAT	15	40914059	40914067	A	AATGTAAAT	KNL1	c.1676_1683dup	NM_170589.5	NP_733468.3:p.(Cys562MetfsTer2)	NC_000015.9:g.40914060_40914067dup	(Likely) pathogenic	1 lab	4a9e3f5a70
5:80071540 MSH3 G>T	5	80071540	80071540	G	T	MSH3	c.2281G>T	NM_002439.5	NP_002430.3:p.(Val761Leu)	NC_000005.9:g.80071540G>T	VUS	1 lab	4aa2b9e5a3
16:23646490 PALB2 G>A	16	23646490	23646490	G	A	PALB2	c.1377C>T	NM_024675.4	NP_078951.2:p.(Asp459=)	NC_000016.9:g.23646490G>A	(Likely) benign	1 lab	4aaaf5e3a1
2:167084184 SCN9A A>C	2	167084184	167084184	A	C	SCN9A	c.4223T>G	NM_002977.3	NP_002968.1:p.(Val1408Gly)	NC_000002.11:g.167084184A>C	VUS	1 lab	4aad0b29f8
12:38712226 ALG10B A>G	12	38712226	38712226	A	G	ALG10B	c.335A>G	NM_001013620.4	NP_001013642.2:p.(Tyr112Cys)	NC_000012.11:g.38712226A>G	(Likely) benign	1 lab	4aae432fc8
14:23851877 MISSING Ref too long to show for this DEL>T	14	23851877	23890277	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.23851878_23890277del	VUS	1 lab	4aaebeffbd
16:1021000 LMF1 CCGGAGGCCCCGCCCATTCT>C	16	1021000	1021051	CCGGAGGCCCCGCCCATTCT	C	LMF1	c.-362+10126_-362+10144del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1021033_1021051del	(Likely) benign	1 lab	4aaed2b356
3:113376110 USF3 TTGCTGCTGCTGC>T	3	113376110	113376147	TTGCTGCTGCTGC	T	USF3	c.4407_4418del	NM_001009899.4	NP_001009899.3:p.(Gln1475_Gln1478del)	NC_000003.11:g.113376136_113376147del	(Likely) benign	1 lab	4ab1011037
2:179462620 TTN A>C	2	179462620	179462620	A	C	TTN	c.57262+15T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179462620A>C	(Likely) benign	1 lab	4ab14d1b08
8:59407109 CYP7A1 G>A	8	59407109	59407109	G	A	CYP7A1	c.995C>T	NM_000780.4	NP_000771.2:p.(Pro332Leu)	NC_000008.10:g.59407109G>A	VUS	1 lab	4ab1a18ef7
17:9066248 NTN1 C>T	17	9066248	9066248	C	T	NTN1	c.1137C>T	NM_004822.3	NP_004813.2:p.(His379=)	NC_000017.10:g.9066248C>T	(Likely) benign	1 lab	4ab5173ef5
2:21227204 APOB G>A	2	21227204	21227204	G	A	APOB	c.12024C>T	NM_000384.3	NP_000375.3:p.(Thr4008=)	NC_000002.11:g.21227204G>A	(Likely) benign	1 lab	4ab59975a1
3:38738877 SCN10A T>C	3	38738877	38738877	T	C	SCN10A	c.5834A>G	NM_006514.4	NP_006505.4:p.(Glu1945Gly)	NC_000003.11:g.38738877T>C	(Likely) benign	1 lab	4ab5d18019
1:150547073 MISSING G>Alt too long to show for this DUP	1	150547073	150647731	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.150547076_150647731dup	VUS	1 lab	4abcc107a9
2:191792165 GLS A>T	2	191792165	191792165	A	T	GLS	c.1382A>T	NM_014905.5	NP_055720.3:p.(His461Leu)	NC_000002.11:g.191792165A>T	VUS	1 lab	4ac003ad41
1:55523756 PCSK9 G>A	1	55523756	55523756	G	A	PCSK9	c.1228G>A	NM_174936.4	NP_777596.2:p.(Glu410Lys)	NC_000001.10:g.55523756G>A	VUS	1 lab	4ac465ac8f
9:137693872 COL5A1 A>G	9	137693872	137693872	A	G	COL5A1	c.3006+19A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137693872A>G	(Likely) benign	1 lab	4afd0898b3
1:150532376 ADAMTSL4 G>A	1	150532376	150532376	G	A	ADAMTSL4	c.3083G>A	NM_019032.6	NP_061905.2:p.(Arg1028His)	NC_000001.10:g.150532376G>A	(Likely) benign	1 lab	4ada755477
2:21225974 APOB T>C	2	21225974	21225974	T	C	APOB	c.12320A>G	NM_000384.3	NP_000375.3:p.(Asn4107Ser)	NC_000002.11:g.21225974T>C	VUS	1 lab	4add34f5da
1:35415048 MISSING G>Alt too long to show for this DUP	1	35415048	35449513	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.35415049_35449513dup	VUS	1 lab	4ae1852d8e
2:132020958 POTEE G>T	2	132020958	132020958	G	T	POTEE	c.1930G>T	NM_001083538.3	NP_001077007.1:p.(Val644Phe)	NC_000002.11:g.132020958G>T	(Likely) benign	1 lab	4ae22ab2f6
20:42815049 JPH2 G>A	20	42815049	42815049	G	A	JPH2	c.297C>T	NM_020433.5	NP_065166.2:p.(Ser99=)	NC_000020.10:g.42815049G>A	(Likely) benign	1 lab	4ae443265a
X:13756965 OFD1 G>A	X	13756965	13756965	G	A	OFD1	c.313G>A	NM_003611.3	NP_003602.1:p.(Val105Ile)	NC_000023.10:g.13756965G>A	(Likely) benign	1 lab	4ae6873a2a
11:17547890 USH1C C>T	11	17547890	17547890	C	T	USH1C	c.674+4G>A	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17547890C>T	(Likely) benign	1 lab	4aef403c83
10:76780557 KAT6B CAA>C	10	76780557	76780559	CAA	C	KAT6B	c.2848_2849del	NM_012330.4	NP_036462.2:p.(Lys950GlufsTer9)	NC_000010.10:g.76780558_76780559del	VUS	1 lab	4af2ae0a2a
7:128483567 FLNC G>T	7	128483567	128483567	G	T	FLNC	c.2747G>T	NM_001458.5	NP_001449.3:p.(Arg916Leu)	NC_000007.13:g.128483567G>T	VUS	1 lab	4afd54b9e3
15:31999631 MISSING Ref too long to show for this DEL>C	15	31999631	32439524	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.31999632_32439524del	(Likely) pathogenic	1 lab	4b00651e89
6:72974732 RIMS1 C>T	6	72974732	72974732	C	T	RIMS1	c.3171C>T	NM_014989.6	NP_055804.2:p.(Ser1057=)	NC_000006.11:g.72974732C>T	(Likely) benign	1 lab	4b0a470797
22:31330990 MORC2 T>G	22	31330990	31330990	T	G	MORC2	c.1785A>C	NM_014941.3	NP_055756.1:p.(Ala595=)	NC_000022.10:g.31330990T>G	(Likely) benign	1 lab	4b0d64a809
19:11213463 LDLR G>GT	19	11213463	11213464	G	GT	LDLR	c.313+2dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213464dup	(Likely) pathogenic	1 lab	4b0f27ab19
2:1639270 PXDN G>C	2	1639270	1639270	G	C	PXDN	c.4230C>G	NM_012293.3	NP_036425.1:p.(Leu1410=)	NC_000002.11:g.1639270G>C	(Likely) benign	1 lab	4b102f8c27
18:19418394 MIB1 A>G	18	19418394	19418394	A	G	MIB1	c.1898A>G	NM_020774.4	NP_065825.1:p.(Tyr633Cys)	NC_000018.9:g.19418394A>G	VUS	1 lab	4b1391add5
12:33049495 PKP2 C>T	12	33049495	33049495	C	T	PKP2	c.171G>A	NM_004572.4	NP_004563.2:p.(Gln57=)	NC_000012.11:g.33049495C>T	(Likely) benign	1 lab	4b17c6906f
17:75488795 SEPTIN9 C>T	17	75488795	75488795	C	T	SEPTIN9	c.1419C>T	NM_006640.5	NP_006631.2:p.(Phe473=)	NC_000017.10:g.75488795C>T	(Likely) benign	1 lab	4b1b429481
9:123223026 CDK5RAP2 CTT>C	9	123223026	123223037	CTT	C	CDK5RAP2	c.2107-83_2107-82del	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123223036_123223037del	(Likely) benign	1 lab	4b1e6a7686
9:111692066 ELP1 T>C	9	111692066	111692066	T	C	ELP1	c.286A>G	NM_003640.5	NP_003631.2:p.(Ser96Gly)	NC_000009.11:g.111692066T>C	(Likely) benign	1 lab	4b1ea8f410
2:44059135 ABCG5 C>T	2	44059135	44059135	C	T	ABCG5	c.353G>A	NM_022436.3	NP_071881.1:p.(Arg118Gln)	NC_000002.11:g.44059135C>T	VUS	1 lab	4b1ed66336
2:25459792 DNMT3A C>T	2	25459792	25459792	C	T	DNMT3A	c.2478+13G>A	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25459792C>T	(Likely) benign	1 lab	4b1fb992a9
1:63070508 ANGPTL3 G>C	1	63070508	63070508	G	C	ANGPTL3	c.*20G>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63070508G>C	VUS	1 lab	4b227a4aa6
3:100951705 IMPG2 C>G	3	100951705	100951705	C	G	IMPG2	c.3153G>C	NM_016247.4	NP_057331.2:p.(Gln1051His)	NC_000003.11:g.100951705C>G	VUS	1 lab	4b25e6a3dc
11:117280584 CEP164 A>G	11	117280584	117280584	A	G	CEP164	c.3999A>G	NM_014956.5	NP_055771.4:p.(Gln1333=)	NC_000011.9:g.117280584A>G	(Likely) benign	1 lab	4b27541ba7
3:100948278 IMPG2 C>T	3	100948278	100948278	C	T	IMPG2	c.3579G>A	NM_016247.4	NP_057331.2:p.(Gly1193=)	NC_000003.11:g.100948278C>T	(Likely) benign	1 lab	4b291cbef7
3:154878158 MME GA>G	3	154878158	154878159	GA	G	MME	c.1602-20del	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154878159del	(Likely) benign	1 lab	4b2d3ed156
17:6459690 PITPNM3 C>G	17	6459690	6459690	C	G	PITPNM3	c.22+15G>C	NM_031220.4	NP_112497.2:p.?	NC_000017.10:g.6459690C>G	(Likely) benign	1 lab	4b341fc7fd
5:147807198 FBXO38 C>T	5	147807198	147807198	C	T	FBXO38	c.2341C>T	NM_030793.5	NP_110420.3:p.(Pro781Ser)	NC_000005.9:g.147807198C>T	(Likely) benign	1 lab	4b3c64e7b9
1:211840541 NEK2 G>A	1	211840541	211840541	G	A	NEK2	c.1018C>T	NM_002497.4	NP_002488.1:p.(Leu340=)	NC_000001.10:g.211840541G>A	(Likely) benign	1 lab	4b3ec84179
3:48607027 COL7A1 T>C	3	48607027	48607027	T	C	COL7A1	c.7612A>G	NM_000094.4	NP_000085.1:p.(Met2538Val)	NC_000003.11:g.48607027T>C	(Likely) benign	1 lab	4b42a3d356
12:48386330 COL2A1 A>G	12	48386330	48386330	A	G	COL2A1	c.1023+331T>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48386330A>G	(Likely) benign	1 lab	4b495f62ff
2:219674165 CYP27A1 C>CT	2	219674165	219674187	C	CT	CYP27A1	c.256-113dup	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219674187dup	(Likely) benign	1 lab	4b4bf892ff
7:91695726 AKAP9 G>A	7	91695726	91695726	G	A	AKAP9	c.6211-15G>A	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91695726G>A	(Likely) benign	1 lab	4b52b5a943
5:147818058 FBXO38 G>A	5	147818058	147818058	G	A	FBXO38	c.2796G>A	NM_030793.5	NP_110420.3:p.(Gln932=)	NC_000005.9:g.147818058G>A	(Likely) benign	1 lab	4b53751017
1:55529108 PCSK9 G>A	1	55529108	55529108	G	A	PCSK9	c.1930G>A	NM_174936.4	NP_777596.2:p.(Val644Ile)	NC_000001.10:g.55529108G>A	VUS	1 lab	4b553f455f
9:12704561 TYRP1 G>A	9	12704561	12704561	G	A	TYRP1	c.1117G>A	NM_000550.3	NP_000541.1:p.(Val373Ile)	NC_000009.11:g.12704561G>A	(Likely) benign	1 lab	4b5d567938
12:2762999 CACNA1C A>G	12	2762999	2762999	A	G	CACNA1C	c.4075-2A>G	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2762999A>G	VUS	1 lab	4b6253a125
6:110048322 FIG4 G>A	6	110048322	110048322	G	A	FIG4	c.300G>A	NM_014845.6	NP_055660.1:p.(Arg100=)	NC_000006.11:g.110048322G>A	(Likely) benign	1 lab	4b6b675112
11:129805100 PRDM10 T>C	11	129805100	129805100	T	C	PRDM10	c.1053A>G	NM_020228.3	NP_064613.2:p.(Gln351=)	NC_000011.9:g.129805100T>C	(Likely) benign	1 lab	4b72c1c715
4:65147217 TECRL A>G	4	65147217	65147217	A	G	TECRL	c.893T>C	NM_001010874.5	NP_001010874.2:p.(Val298Ala)	NC_000004.11:g.65147217A>G	VUS	1 lab	4b782adf24
2:25044417 ADCY3 G>A	2	25044417	25044417	G	A	ADCY3	c.3096C>T	NM_004036.5	NP_004027.2:p.(Asn1032=)	NC_000002.11:g.25044417G>A	(Likely) benign	1 lab	4b7aeb82a9
18:29121197 DSG2 G>A	18	29121197	29121197	G	A	DSG2	c.1921G>A	NM_001943.5	NP_001934.2:p.(Ala641Thr)	NC_000018.9:g.29121197G>A	VUS	1 lab	4b7af6967f
4:73188818 ADAMTS3 G>A	4	73188818	73188818	G	A	ADAMTS3	c.862-4C>T	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73188818G>A	(Likely) benign	1 lab	4b7b476e67
12:32955467 PKP2 T>C	12	32955467	32955467	T	C	PKP2	c.2169A>G	NM_004572.4	NP_004563.2:p.(Thr723=)	NC_000012.11:g.32955467T>C	(Likely) benign	1 lab	4b7e78630f
20:61448933 COL9A3 C>A	20	61448933	61448933	C	A	COL9A3	c.93C>A	NM_001853.4	NP_001844.3:p.(Pro31=)	NC_000020.10:g.61448933C>A	(Likely) benign	1 lab	4b818e8c23
2:15534428 NBAS T>A	2	15534428	15534428	T	A	NBAS	c.3180A>T	NM_015909.4	NP_056993.2:p.(Ser1060=)	NC_000002.11:g.15534428T>A	(Likely) benign	1 lab	4b8357d47b
16:53679577 RPGRIP1L A>T	16	53679577	53679577	A	T	RPGRIP1L	c.2643T>A	NM_001308334.3	NP_001295263.1:p.(Asn881Lys)	NC_000016.9:g.53679577A>T	(Likely) benign	1 lab	4b8ea116d8
9:107595071 ABCA1 A>G	9	107595071	107595071	A	G	ABCA1	c.1312-19T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107595071A>G	(Likely) benign	1 lab	4b93b21dfd
22:46933047 CELSR1 GGGC>G	22	46933047	46933063	GGGC	G	CELSR1	c.18_20del	NM_001378328.1	NP_001365257.1:p.(Pro7del)	NC_000022.10:g.46933061_46933063del	(Likely) benign	1 lab	4b9546e642
16:81397435 GAN A>T	16	81397435	81397435	A	T	GAN	c.1123A>T	NM_022041.4	NP_071324.1:p.(Met375Leu)	NC_000016.9:g.81397435A>T	VUS	1 lab	4b97444265
12:21358789 SLCO1B1 C>T	12	21358789	21358789	C	T	SLCO1B1	c.1332-13C>T	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358789C>T	(Likely) benign	1 lab	4b9c62dae8
12:64849602 TBK1 A>AT	12	64849602	64849612	A	AT	TBK1	c.-31-8dup	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64849612dup	(Likely) benign	1 lab	4ba29f2e52
19:55267592 MISSING C>A	19	55267592	55267592	C	A	MISSING				NC_000019.9:g.55267592C>A	(Likely) benign	1 lab	4ba9c6a137
12:2799789 CACNA1C G>A	12	2799789	2799789	G	A	CACNA1C	c.6118-277G>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2799789G>A	(Likely) benign	1 lab	4baffb6f5c
1:235840760 LYST T>C	1	235840760	235840760	T	C	LYST	c.10940+20A>G	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235840760T>C	(Likely) benign	1 lab	4bb1e91f9f
5:112154568 APC A>C	5	112154568	112154568	A	C	APC	c.934-95A>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112154568A>C	(Likely) benign	1 lab	4bbde4db57
11:118365473 KMT2A T>C	11	118365473	118365473	T	C	KMT2A	c.5354T>C	NM_001197104.2	NP_001184033.1:p.(Val1785Ala)	NC_000011.9:g.118365473T>C	VUS	1 lab	4bc0643746
21:27354641 APP G>A	21	27354641	27354641	G	A	APP	c.1224+16C>T	NM_000484.4	NP_000475.1:p.?	NC_000021.8:g.27354641G>A	(Likely) benign	1 lab	4bc15e78db
X:132434060 GPC4 C>Alt too long to show for this DUP	X	132434060	132434385	C	Alt too long to show for this DUP	GPC4				NC_000023.10:g.132434062_132434385dup	VUS	1 lab	4bc1be0ecb
12:69980614 CCT2 A>G	12	69980614	69980614	A	G	CCT2	c.3+16A>G	NM_001198842.2	NP_001185771.1:p.?	NC_000012.11:g.69980614A>G	(Likely) benign	1 lab	4bccf5df7c
8:19808999 LPL A>C	8	19808999	19808999	A	C	LPL	c.250-281A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19808999A>C	(Likely) benign	1 lab	4bce5e2b94
2:44101622 ABCG8 G>C	2	44101622	44101622	G	C	ABCG8	c.1488G>C	NM_022437.3	NP_071882.1:p.(Lys496Asn)	NC_000002.11:g.44101622G>C	(Likely) pathogenic	1 lab	4bd17c81fb
X:23847715 MISSING A>Alt too long to show for this DUP	X	23847715	23874609	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.23847716_23874609dup	VUS	1 lab	4bd52c5e34
10:67748505 CTNNA3 A>C	10	67748505	67748505	A	C	CTNNA3	c.2210T>G	NM_013266.4	NP_037398.2:p.(Met737Arg)	NC_000010.10:g.67748505A>C	VUS	1 lab	4bdf9215c9
16:57016134 CETP C>T	16	57016134	57016134	C	T	CETP	c.1306C>T	NM_000078.3	NP_000069.2:p.(Pro436Ser)	NC_000016.9:g.57016134C>T	VUS	1 lab	4bdfe07a0c
9:35061169 VCP T>C	9	35061169	35061169	T	C	VCP	c.1202A>G	NM_007126.5	NP_009057.1:p.(Asn401Ser)	NC_000009.11:g.35061169T>C	VUS	1 lab	4be6883e06
1:145297615 NBPF10 C>A	1	145297615	145297615	C	A	NBPF10	c.494-4C>A	NM_001039703.6	NP_001034792.4:p.?	NC_000001.10:g.145297615C>A	(Likely) benign	1 lab	4be6f1462d
10:121429312 BAG3 G>T	10	121429312	121429312	G	T	BAG3	c.181-51G>T	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121429312G>T	(Likely) benign	1 lab	4bf2bf4526
12:48387599 COL2A1 C>T	12	48387599	48387599	C	T	COL2A1	c.917G>A	NM_001844.5	NP_001835.3:p.(Gly306Asp)	NC_000012.11:g.48387599C>T	(Likely) pathogenic	1 lab	4bf871c0c6
11:71146473 DHCR7 C>T	11	71146473	71146473	C	T	DHCR7	c.1376G>A	NM_001360.3	NP_001351.2:p.(Trp459Ter)	NC_000011.9:g.71146473C>T	(Likely) pathogenic	1 lab	4bfa8194c7
18:58038726 MC4R A>C	18	58038726	58038726	A	C	MC4R	c.857T>G	NM_005912.3	NP_005903.2:p.(Leu286Trp)	NC_000018.9:g.58038726A>C	VUS	1 lab	4bfe307deb
7:128498121 FLNC G>A	7	128498121	128498121	G	A	FLNC	c.7840G>A	NM_001458.5	NP_001449.3:p.(Val2614Met)	NC_000007.13:g.128498121G>A	VUS	1 lab	4bff397442
3:45868926 LZTFL1 G>A	3	45868926	45868926	G	A	LZTFL1	c.752C>T	NM_001276378.2	NP_001263307.1:p.(Thr251Ile)	NC_000003.11:g.45868926G>A	VUS	1 lab	4c02e3d02b
17:74468753 RHBDF2 C>T	17	74468753	74468753	C	T	RHBDF2	c.2151+15G>A	NM_024599.5	NP_078875.4:p.?	NC_000017.10:g.74468753C>T	(Likely) benign	1 lab	4c031b22fa
15:44877881 SPG11 C>T	15	44877881	44877881	C	T	SPG11	c.5074G>A	NM_025137.4	NP_079413.3:p.(Val1692Ile)	NC_000015.9:g.44877881C>T	VUS	1 lab	4c0a4e9635
7:107664504 LAMB4 AT>A	7	107664504	107664512	AT	A	LAMB4	c.5265del	NM_007356.3	NP_031382.2:p.(Lys1755AsnfsTer11)	NC_000007.13:g.107664512del	(Likely) benign	1 lab	4c0ae8a902
1:156100395 LMNA C>A	1	156100395	156100395	C	A	LMNA	c.357-13C>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156100395C>A	(Likely) benign	1 lab	4c0d60d443
4:99198574 MISSING C>Alt too long to show for this DUP	4	99198574	99403351	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.99198576_99403351dup	VUS	1 lab	4c1330d179
15:48763278 FBN1 G>T	15	48763278	48763278	G	T	FBN1	c.4337-325C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48763278G>T	(Likely) benign	1 lab	4c13706ec2
6:32011061 TNXB C>T	6	32011061	32011061	C	T	TNXB	c.11679G>A	NM_019105.8	NP_061978.6:p.(Ala3893=)	NC_000006.11:g.32011061C>T	(Likely) benign	1 lab	4c1433bdc0
3:38595682 SCN5A T>C	3	38595682	38595682	T	C	SCN5A	c.4813+88A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38595682T>C	(Likely) benign	1 lab	4c1721010b
14:88423274 GALC G>GT	14	88423274	88423280	G	GT	GALC	c.1162-6183dup	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88423280dup	(Likely) benign	1 lab	4c18f7b4e4
2:179634660 TTN T>C	2	179634660	179634660	T	C	TTN	c.8648A>G	NM_001267550.2	NP_001254479.2:p.(His2883Arg)	NC_000002.11:g.179634660T>C	VUS	1 lab	4c20abf4a6
4:167396594 MISSING A>Alt too long to show for this DUP	4	167396594	167713361	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.167396595_167713361dup	VUS	1 lab	4c215e4630
2:21227383 APOB C>G	2	21227383	21227383	C	G	APOB	c.11903+50G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227383C>G	(Likely) benign	1 lab	4c2216c920
16:56996985 CETP C>T	16	56996985	56996985	C	T	CETP	c.182C>T	NM_000078.3	NP_000069.2:p.(Thr61Met)	NC_000016.9:g.56996985C>T	(Likely) benign	1 lab	4c280ff6ac
19:8196643 FBN3 G>A	19	8196643	8196643	G	A	FBN3	c.1785C>T	NM_032447.5	NP_115823.3:p.(Arg595=)	NC_000019.9:g.8196643G>A	(Likely) benign	1 lab	4c2b265eb9
9:107555190 ABCA1 TG>T	9	107555190	107555195	TG	T	ABCA1	c.5637-4del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555195del	(Likely) benign	1 lab	4c2b7f842a
14:23883033 MYH7 G>T	14	23883033	23883033	G	T	MYH7	c.5725C>A	NM_000257.4	NP_000248.2:p.(Arg1909=)	NC_000014.8:g.23883033G>T	(Likely) benign	1 lab	4c311a1259
18:10698994 PIEZO2 C>T	18	10698994	10698994	C	T	PIEZO2	c.6284G>A	NM_022068.4	NP_071351.2:p.(Arg2095Gln)	NC_000018.9:g.10698994C>T	VUS	1 lab	4c3615fdd6
16:81411041 GAN G>A	16	81411041	81411041	G	A	GAN	c.1634G>A	NM_022041.4	NP_071324.1:p.(Arg545His)	NC_000016.9:g.81411041G>A	(Likely) pathogenic	1 lab	4c3648322c
1:116268187 CASQ2 A>C	1	116268187	116268187	A	C	CASQ2	c.738-13T>G	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116268187A>C	(Likely) benign	1 lab	4c3940f1f4
2:220161860 PTPRN G>A	2	220161860	220161860	G	A	PTPRN	c.2089-6C>T	NM_002846.4	NP_002837.1:p.?	NC_000002.11:g.220161860G>A	(Likely) benign	1 lab	4c3c852ff1
X:1656790 MISSING C>Alt too long to show for this DUP	X	1656790	1699174	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.1656792_1699174dup	(Likely) pathogenic	1 lab	4c3cff59b1
17:27861260 TAOK1 G>A	17	27861260	27861260	G	A	TAOK1	c.2486G>A	NM_020791.4	NP_065842.1:p.(Arg829Gln)	NC_000017.10:g.27861260G>A	VUS	1 lab	4c41924bd0
2:179583606 TTN G>A	2	179583606	179583606	G	A	TTN	c.24321C>T	NM_001267550.2	NP_001254479.2:p.(Phe8107=)	NC_000002.11:g.179583606G>A	(Likely) benign	1 lab	4c450b87f0
17:65944261 BPTF G>A	17	65944261	65944261	G	A	BPTF	c.7714G>A	NM_004459.7	NP_004450.3:p.(Ala2572Thr)	NC_000017.10:g.65944261G>A	VUS	1 lab	4c494e68a3
5:95736195 PCSK1 G>A	5	95736195	95736195	G	A	PCSK1	c.1197-305C>T	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95736195G>A	(Likely) benign	1 lab	4c4a35c5a9
12:27788021 PPFIBP1 G>A	12	27788021	27788021	G	A	PPFIBP1	c.243G>A	NM_177444.3	NP_803193.3:p.(Thr81=)	NC_000012.11:g.27788021G>A	(Likely) benign	1 lab	4c4abaa672
5:77536670 AP3B1 T>C	5	77536670	77536670	T	C	AP3B1	c.132+16A>G	NM_001271769.2	NP_001258698.1:p.?	NC_000005.9:g.77536670T>C	(Likely) benign	1 lab	4c5456d33c
11:102207656 BIRC3 AC>A	11	102207656	102207657	AC	A	BIRC3	c.1639del	NM_001165.5	NP_001156.1:p.(Gln547AsnfsTer21)	NC_000011.9:g.102207657del	(Likely) pathogenic	1 lab	4c564c70b1
19:13008632 GCDH G>A	19	13008632	13008632	G	A	GCDH	c.1198G>A	NM_000159.4	NP_000150.1:p.(Val400Met)	NC_000019.9:g.13008632G>A	(Likely) pathogenic	1 lab	4c565c514b
2:121708906 GLI2 C>T	2	121708906	121708906	C	T	GLI2	c.342C>T	NM_005270.5	NP_005261.2:p.(Pro114=)	NC_000002.11:g.121708906C>T	(Likely) benign	1 lab	4c5b1eb14f
10:68979568 CTNNA3 TCTC>T	10	68979568	68979573	TCTC	T	CTNNA3	c.637_639del	NM_013266.4	NP_037398.2:p.(Glu213del)	NC_000010.10:g.68979571_68979573del	VUS	1 lab	4c6068c19d
5:137372279 MISSING C>Alt too long to show for this DUP	5	137372279	137469777	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.137372280_137469777dup	(Likely) pathogenic	1 lab	4c63dd96fb
12:21375306 SLCO1B1 G>GGAAA	12	21375306	21375307	G	GGAAA	SLCO1B1	c.1747+8_1747+9insGAAA	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375306_21375307insGAAA	(Likely) benign	1 lab	4c645bee24
17:79818260 P4HB G>T	17	79818260	79818260	G	T	P4HB	c.88C>A	NM_000918.4	NP_000909.2:p.(Arg30=)	NC_000017.10:g.79818260G>T	(Likely) benign	1 lab	4c6513279a
19:17988683 SLC5A5 C>T	19	17988683	17988683	C	T	SLC5A5	c.839+11C>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17988683C>T	(Likely) benign	1 lab	4c6b0e47b2
17:1565189 PRPF8 C>T	17	1565189	1565189	C	T	PRPF8	c.4022+11G>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1565189C>T	(Likely) benign	1 lab	4c6c604c08
1:216419986 USH2A C>T	1	216419986	216419986	C	T	USH2A	c.2750G>A	NM_206933.4	NP_996816.3:p.(Ser917Asn)	NC_000001.10:g.216419986C>T	VUS	1 lab	4c78089771
9:130265093 LRSAM1 G>C	9	130265093	130265093	G	C	LRSAM1	c.2087G>C	NM_138361.5	NP_612370.3:p.(Cys696Ser)	NC_000009.11:g.130265093G>C	VUS	1 lab	4c78e9e4cc
21:46784079 MISSING T>Alt too long to show for this DUP	21	46784079	47121128	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.46784080_47121128dup	VUS	1 lab	4c80d62721
X:152771509 BGN C>T	X	152771509	152771509	C	T	BGN	c.540C>T	NM_001711.6	NP_001702.1:p.(Ser180=)	NC_000023.10:g.152771509C>T	(Likely) benign	1 lab	4c83157a02
2:21234300 APOB G>A	2	21234300	21234300	G	A	APOB	c.5440C>T	NM_000384.3	NP_000375.3:p.(Leu1814=)	NC_000002.11:g.21234300G>A	(Likely) benign	1 lab	4c85df0bf3
11:68673630 IGHMBP2 C>T	11	68673630	68673630	C	T	IGHMBP2	c.180C>T	NM_002180.3	NP_002171.2:p.(Tyr60=)	NC_000011.9:g.68673630C>T	(Likely) benign	1 lab	4c87192e8a
15:72640193 HEXA G>T	15	72640193	72640193	G	T	HEXA	c.1074-94C>A	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72640193G>T	(Likely) benign	1 lab	4c879eac55
2:179401009 TTN A>C	2	179401009	179401009	A	C	TTN	c.100465T>G	NM_001267550.2	NP_001254479.2:p.(Ser33489Ala)	NC_000002.11:g.179401009A>C	VUS	1 lab	4c8c4034c0
19:11226782 LDLR G>A	19	11226782	11226782	G	A	LDLR	c.1599G>A	NM_000527.5	NP_000518.1:p.(Trp533Ter)	NC_000019.9:g.11226782G>A	(Likely) pathogenic	1 lab	4c8dc111b6
5:149456926 CSF1R C>T	5	149456926	149456926	C	T	CSF1R	c.802G>A	NM_005211.4	NP_005202.2:p.(Val268Ile)	NC_000005.9:g.149456926C>T	VUS	1 lab	4c91e25fac
16:57007310 CETP G>A	16	57007310	57007310	G	A	CETP	c.818G>A	NM_000078.3	NP_000069.2:p.(Gly273Glu)	NC_000016.9:g.57007310G>A	VUS	1 lab	4c933e758e
3:38674686 SCN5A G>A	3	38674686	38674686	G	A	SCN5A	c.113C>T	NM_198056.3	NP_932173.1:p.(Thr38Ile)	NC_000003.11:g.38674686G>A	VUS	1 lab	4c94257a89
6:7586108 DSP C>CTAG	6	7586108	7586115	C	CTAG	DSP	c.*2_*4dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7586113_7586115dup	(Likely) benign	1 lab	4c99361018
19:11222262 LDLR A>C	19	11222262	11222262	A	C	LDLR	c.1133A>C	NM_000527.5	NP_000518.1:p.(Gln378Pro)	NC_000019.9:g.11222262A>C	(Likely) pathogenic	1 lab	4c9de754ef
X:9660285 TBL1X G>C	X	9660285	9660285	G	C	TBL1X	c.882G>C	NM_005647.4	NP_005638.1:p.(Leu294=)	NC_000023.10:g.9660285G>C	(Likely) benign	1 lab	4ca1a6b463
12:124272382 DNAH10 T>C	12	124272382	124272382	T	C	DNAH10	c.1270T>C	NM_207437.3	NP_997320.2:p.(Leu424=)	NC_000012.11:g.124272382T>C	(Likely) benign	1 lab	4ca2cb2478
6:146673571 GRM1 T>G	6	146673571	146673571	T	G	GRM1	c.1372T>G	NM_001278065.2	NP_001264994.1:p.(Ser458Ala)	NC_000006.11:g.146673571T>G	(Likely) benign	1 lab	4ca89375aa
12:96077312 NTN4 C>T	12	96077312	96077312	C	T	NTN4	c.1356G>A	NM_021229.4	NP_067052.2:p.(Ala452=)	NC_000012.11:g.96077312C>T	(Likely) benign	1 lab	4cab6661f8
12:8802120 MFAP5 C>T	12	8802120	8802120	C	T	MFAP5	c.386G>A	NM_003480.4	NP_003471.1:p.(Cys129Tyr)	NC_000012.11:g.8802120C>T	VUS	1 lab	4cacf6ddea
15:85360071 ALPK3 G>A	15	85360071	85360071	G	A	ALPK3				NC_000015.9:g.85360071G>A	(Likely) benign	1 lab	4cb56b8d9b
15:100657126 ADAMTS17 C>T	15	100657126	100657126	C	T	ADAMTS17	c.1814G>A	NM_139057.4	NP_620688.2:p.(Arg605Gln)	NC_000015.9:g.100657126C>T	VUS	1 lab	4cb68ffd55
4:113575247 LARP7 CAGA>C	4	113575247	113575253	CAGA	C	LARP7	c.1604_1606del	NM_016648.4	NP_057732.2:p.(Lys535del)	NC_000004.11:g.113575251_113575253del	VUS	1 lab	4cb8141a94
17:79805155 P4HB G>A	17	79805155	79805155	G	A	P4HB	c.693C>T	NM_000918.4	NP_000909.2:p.(His231=)	NC_000017.10:g.79805155G>A	(Likely) benign	1 lab	4cc64dad10
16:15850204 MYH11 A>G	16	15850204	15850204	A	G	MYH11	c.1764T>C	NM_001040113.2	NP_001035202.1:p.(Ala588=)	NC_000016.9:g.15850204A>G	(Likely) benign	1 lab	4cc6ea2bd9
2:241727452 KIF1A G>A	2	241727452	241727452	G	A	KIF1A	c.363+16C>T	NM_001379631.1	NP_001366560.1:p.?	NC_000002.11:g.241727452G>A	(Likely) benign	1 lab	4ccc4fe2b2
16:1412297 GNPTG G>A	16	1412297	1412297	G	A	GNPTG	c.502G>A	NM_032520.5	NP_115909.1:p.(Val168Ile)	NC_000016.9:g.1412297G>A	VUS	1 lab	4cd6fce648
2:179516041 TTN T>A	2	179516041	179516041	T	A	TTN	c.32252A>T	NM_133378.4	NP_596869.4:p.(Glu10751Val)	NC_000002.11:g.179516041T>A	VUS	1 lab	4cda7b0f66
2:219646922 CYP27A1 G>A	2	219646922	219646922	G	A	CYP27A1	c.17G>A	NM_000784.4	NP_000775.1:p.(Cys6Tyr)	NC_000002.11:g.219646922G>A	VUS	1 lab	4cdda7f36a
15:31341599 TRPM1 C>T	15	31341599	31341599	C	T	TRPM1	c.1602G>A	NM_001252020.2	NP_001238949.1:p.(Arg534=)	NC_000015.9:g.31341599C>T	(Likely) benign	1 lab	4cdecd0656
X:103174462 MISSING T>Alt too long to show for this DUP	X	103174462	103329048	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.103174463_103329048dup	(Likely) pathogenic	1 lab	4ce8d9de17
17:45299200 MYL4 C>T	17	45299200	45299200	C	T	MYL4	c.466C>T	NM_001002841.2	NP_001002841.1:p.(Arg156Trp)	NC_000017.10:g.45299200C>T	VUS	1 lab	4cecb18a2f
8:134042164 TG C>T	8	134042164	134042164	C	T	TG	c.7135C>T	NM_003235.5	NP_003226.4:p.(Arg2379Cys)	NC_000008.10:g.134042164C>T	VUS	1 lab	4cedcdae80
1:213032140 FLVCR1 C>T	1	213032140	213032140	C	T	FLVCR1	c.346C>T	NM_014053.4	NP_054772.1:p.(Leu116=)	NC_000001.10:g.213032140C>T	(Likely) benign	1 lab	4cf4194777
18:22414110 MISSING A>Alt too long to show for this DUP	18	22414110	22791568	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.22414113_22791568dup	VUS	1 lab	4cf41e48c5
3:170216467 SLC7A14 C>T	3	170216467	170216467	C	T	SLC7A14	c.748G>A	NM_020949.3	NP_066000.2:p.(Gly250Ser)	NC_000003.11:g.170216467C>T	VUS	1 lab	4cf8a5ad9d
16:53656168 RPGRIP1L T>C	16	53656168	53656168	T	C	RPGRIP1L	c.3395A>G	NM_015272.5	NP_056087.2:p.(Gln1132Arg)	NC_000016.9:g.53656168T>C	(Likely) benign	1 lab	4cf9b78d79
14:105173889 INF2 CTGCT>C	14	105173889	105173893	CTGCT	C	INF2	c.1286_1289del	NM_001031714.4	NP_001026884.3:p.(Leu429ProfsTer128)	NC_000014.8:g.105173890_105173893del	(Likely) benign	1 lab	4cfbda67f4
9:111696389 ELP1 G>C	9	111696389	111696389	G	C	ELP1	c.-301C>G	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111696389G>C	(Likely) benign	1 lab	4cfcfe9d40
16:78341865 WWOX Ref too long to show for this DEL>T	16	78341865	78379663	Ref too long to show for this DEL	T	WWOX	c.517-78890_517-41094del	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78341867_78379663del	VUS	1 lab	4d05775a98
10:5025457 MISSING T>Alt too long to show for this DUP	10	5025457	5062394	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.5025463_5062394dup	VUS	1 lab	4d074463cb
6:112440443 LAMA4 A>G	6	112440443	112440443	A	G	LAMA4	c.4737T>C	NM_001105206.3	NP_001098676.2:p.(Leu1579=)	NC_000006.11:g.112440443A>G	(Likely) benign	1 lab	4d21c01371
2:216226307 FN1 Ref too long to show for this DEL>G	2	216226307	216284153	Ref too long to show for this DEL	G	FN1	c.1676-43_7404del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216226310_216284153del	VUS	1 lab	4d229736a8
19:11224336 LDLR TGG>T	19	11224336	11224339	TGG	T	LDLR	c.1486_1487del	NM_000527.5	NP_000518.1:p.(Gly496HisfsTer39)	NC_000019.9:g.11224338_11224339del	(Likely) pathogenic	1 lab	4d28e3c38c
17:80858538 TBCD C>A	17	80858538	80858538	C	A	TBCD	c.1661C>A	NM_005993.5	NP_005984.3:p.(Ala554Asp)	NC_000017.10:g.80858538C>A	(Likely) pathogenic	1 lab	4d2c3e0433
9:131285028 GLE1 T>A	9	131285028	131285028	T	A	GLE1	c.514T>A	NM_001003722.2	NP_001003722.1:p.(Phe172Ile)	NC_000009.11:g.131285028T>A	VUS	1 lab	4d324851c9
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	4d32b22842
2:44102441 ABCG8 G>A	2	44102441	44102441	G	A	ABCG8	c.1645G>A	NM_022437.3	NP_071882.1:p.(Ala549Thr)	NC_000002.11:g.44102441G>A	(Likely) benign	1 lab	4d33ea0487
7:82072671 CACNA2D1 G>A	7	82072671	82072671	G	A	CACNA2D1	c.95+10C>T	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.82072671G>A	(Likely) benign	1 lab	4d34973f4c
13:110435551 IRS2 G>T	13	110435551	110435551	G	T	IRS2	c.2850C>A	NM_003749.3	NP_003740.2:p.(Ser950=)	NC_000013.10:g.110435551G>T	(Likely) benign	1 lab	4d34cb4260
11:47367757 MYBPC3 C>A	11	47367757	47367757	C	A	MYBPC3	c.1090+1G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367757C>A	(Likely) pathogenic	1 lab	4d37b661af
16:1652568 IFT140 C>T	16	1652568	1652568	C	T	IFT140	c.172G>A	NM_014714.4	NP_055529.2:p.(Val58Ile)	NC_000016.9:g.1652568C>T	(Likely) benign	1 lab	4d39341f18
15:93528811 CHD2 C>T	15	93528811	93528811	C	T	CHD2	c.3321C>T	NM_001271.4	NP_001262.3:p.(Asp1107=)	NC_000015.9:g.93528811C>T	(Likely) benign	1 lab	4d3beac30f
7:128478800 FLNC G>A	7	128478800	128478800	G	A	FLNC	c.1354G>A	NM_001458.5	NP_001449.3:p.(Val452Met)	NC_000007.13:g.128478800G>A	(Likely) benign	1 lab	4d3e24474c
11:47359970 MYBPC3 CATGCCCGTG>C	11	47359970	47359982	CATGCCCGTG	C	MYBPC3	c.2308+92_2308+100del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359974_47359982del	(Likely) benign	1 lab	4d425a9f07
2:220499222 SLC4A3 G>A	2	220499222	220499222	G	A	SLC4A3	c.1723G>A	NM_001326559.2	NP_001313488.2:p.(Val575Ile)	NC_000002.11:g.220499222G>A	VUS	1 lab	4d430a0dfa
2:179473176 TTN A>C	2	179473176	179473176	A	C	TTN	c.52434T>G	NM_001267550.2	NP_001254479.2:p.(Ile17478Met)	NC_000002.11:g.179473176A>C	(Likely) benign	1 lab	4d473dca4c
16:68856036 CDH1 T>C	16	68856036	68856036	T	C	CDH1	c.1844T>C	NM_004360.5	NP_004351.1:p.(Ile615Thr)	NC_000016.9:g.68856036T>C	(Likely) benign	1 lab	4d4a621694
11:116661406 APOA5 A>T	11	116661406	116661406	A	T	APOA5	c.539T>A	NM_052968.5	NP_443200.2:p.(Val180Glu)	NC_000011.9:g.116661406A>T	VUS	1 lab	4d532d34db
1:6158562 KCNAB2 A>G	1	6158562	6158562	A	G	KCNAB2	c.1176A>G	NM_001199862.2	NP_001186791.1:p.(Ser392=)	NC_000001.10:g.6158562A>G	(Likely) benign	1 lab	4d5400ebf7
12:110770398 ATP2A2 A>G	12	110770398	110770398	A	G	ATP2A2	c.1096-4A>G	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110770398A>G	(Likely) benign	1 lab	4d57d75ac6
18:25591942 CDH2 A>C	18	25591942	25591942	A	C	CDH2	c.414T>G	NM_001792.5	NP_001783.2:p.(Val138=)	NC_000018.9:g.25591942A>C	(Likely) benign	1 lab	4d59ae658e
18:3457776 TGIF1 T>G	18	3457776	3457776	T	G	TGIF1	c.699T>G	NM_173207.4	NP_775299.1:p.(Thr233=)	NC_000018.9:g.3457776T>G	(Likely) benign	1 lab	4e824863ea
4:153249511 FBXW7 C>A	4	153249511	153249511	C	A	FBXW7	c.1267G>T	NM_033632.3	NP_361014.1:p.(Gly423Ter)	NC_000004.11:g.153249511C>A	(Likely) pathogenic	1 lab	4d5b8fa349
5:26906067 CDH9 C>G	5	26906067	26906067	C	G	CDH9	c.811+1G>C	NM_016279.4	NP_057363.3:p.?	NC_000005.9:g.26906067C>G	VUS	1 lab	4d5e7cfe81
1:25889632 LDLRAP1 T>C	1	25889632	25889632	T	C	LDLRAP1	c.604T>C	NM_015627.3	NP_056442.2:p.(Ser202Pro)	NC_000001.10:g.25889632T>C	(Likely) benign	1 lab	4d5ecbf6ca
1:116283467 CASQ2 G>A	1	116283467	116283467	G	A	CASQ2	c.320-18C>T	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116283467G>A	(Likely) benign	1 lab	4d69f01195
16:88497125 ZNF469 G>A	16	88497125	88497125	G	A	ZNF469	c.3247G>A	NM_001367624.2	NP_001354553.1:p.(Gly1083Arg)	NC_000016.9:g.88497125G>A	(Likely) benign	1 lab	4d6d1dd568
15:42652166 CAPN3 G>A	15	42652166	42652166	G	A	CAPN3	c.163G>A	NM_000070.3	NP_000061.1:p.(Gly55Arg)	NC_000015.9:g.42652166G>A	VUS	1 lab	4d716656d2
3:136046106 PCCB C>A	3	136046106	136046106	C	A	PCCB	c.1359+9C>A	NM_001178014.2	NP_001171485.1:p.?	NC_000003.11:g.136046106C>A	(Likely) benign	1 lab	4d728799f8
10:73199663 CDH23 C>T	10	73199663	73199663	C	T	CDH23	c.67+8C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73199663C>T	(Likely) benign	1 lab	4d74850710
13:103518104 ERCC5 G>T	13	103518104	103518104	G	T	ERCC5	c.2042G>T	NM_000123.4	NP_000114.3:p.(Gly681Val)	NC_000013.10:g.103518104G>T	(Likely) benign	1 lab	4d7552cf80
X:119582928 LAMP2 A>G	X	119582928	119582928	A	G	LAMP2	c.453T>C	NM_002294.3	NP_002285.1:p.(Phe151=)	NC_000023.10:g.119582928A>G	(Likely) benign	1 lab	4d77a84aaa
16:15931949 MYH11 T>C	16	15931949	15931949	T	C	MYH11	c.161A>G	NM_001040113.2	NP_001035202.1:p.(Lys54Arg)	NC_000016.9:g.15931949T>C	VUS	1 lab	4d793ab0ec
10:75758116 VCL G>A	10	75758116	75758116	G	A	VCL	c.151G>A	NM_014000.3	NP_054706.1:p.(Val51Ile)	NC_000010.10:g.75758116G>A	VUS	1 lab	4d7cd44fea
7:151433042 PRKAG2 T>G	7	151433042	151433042	T	G	PRKAG2	c.38A>C	NM_001304527.2	NP_001291456.1:p.(His13Pro)	NC_000007.13:g.151433042T>G	VUS	1 lab	4d8110bb33
8:134034245 TG G>A	8	134034245	134034245	G	A	TG	c.6886G>A	NM_003235.5	NP_003226.4:p.(Ala2296Thr)	NC_000008.10:g.134034245G>A	VUS	1 lab	4d836477fe
7:42004878 GLI3 GGGCCACTGGCTGC>G	7	42004878	42004891	GGGCCACTGGCTGC	G	GLI3	c.3780_3792del	NM_000168.6	NP_000159.3:p.(Arg1260SerfsTer18)	NC_000007.13:g.42004879_42004891del	(Likely) pathogenic	1 lab	4d83f06b33
15:58840039 LIPC A>G	15	58840039	58840039	A	G	LIPC	c.809-490A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840039A>G	(Likely) benign	1 lab	4d848327d0
1:55521904 PCSK9 G>A	1	55521904	55521904	G	A	PCSK9	c.996+42G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521904G>A	(Likely) benign	1 lab	4d86e4419a
1:26384148 TRIM63 G>C	1	26384148	26384148	G	C	TRIM63	c.832-7C>G	NM_032588.4	NP_115977.2:p.?	NC_000001.10:g.26384148G>C	(Likely) benign	1 lab	4d8dfb628f
2:44055157 ABCG5 C>T	2	44055157	44055157	C	T	ABCG5	c.599G>A	NM_022436.3	NP_071881.1:p.(Arg200Gln)	NC_000002.11:g.44055157C>T	VUS	1 lab	4d8f01db30
19:45452520 APOC2 C>G	19	45452520	45452520	C	G	APOC2	c.*14C>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452520C>G	VUS	1 lab	4d9483cdae
17:77111776 RBFOX3 C>G	17	77111776	77111776	C	G	RBFOX3	c.22G>C	NM_001082575.3	NP_001076044.1:p.(Ala8Pro)	NC_000017.10:g.77111776C>G	(Likely) benign	1 lab	4d96185e5e
6:7542230 DSP T>C	6	7542230	7542230	T	C	DSP	c.82T>C	NM_004415.4	NP_004406.2:p.(Tyr28His)	NC_000006.11:g.7542230T>C	VUS	1 lab	4d98fe278e
12:125298872 SCARB1 C>T	12	125298872	125298872	C	T	SCARB1	c.506G>A	NM_001367981.1	NP_001354910.1:p.(Arg169His)	NC_000012.11:g.125298872C>T	VUS	1 lab	4da232409e
11:9853777 SBF2 G>C	11	9853777	9853777	G	C	SBF2	c.3646C>G	NM_030962.4	NP_112224.1:p.(Gln1216Glu)	NC_000011.9:g.9853777G>C	(Likely) benign	1 lab	4da44684c5
12:124323006 DNAH10 A>G	12	124323006	124323006	A	G	DNAH10	c.4552A>G	NM_207437.3	NP_997320.2:p.(Met1518Val)	NC_000012.11:g.124323006A>G	(Likely) benign	1 lab	4da9cf32bb
1:116247854 CASQ2 C>A	1	116247854	116247854	C	A	CASQ2	c.898G>T	NM_001232.4	NP_001223.2:p.(Asp300Tyr)	NC_000001.10:g.116247854C>A	VUS	1 lab	4db0b52abf
6:7583800 DSP G>T	6	7583800	7583800	G	T	DSP	c.6305G>T	NM_004415.4	NP_004406.2:p.(Gly2102Val)	NC_000006.11:g.7583800G>T	VUS	1 lab	4db1d02384
16:929599 LMF1 T>A	16	929599	929599	T	A	LMF1	c.868A>T	NM_022773.4	NP_073610.2:p.(Ile290Phe)	NC_000016.9:g.929599T>A	VUS	1 lab	4db9297e4f
9:98211591 PTCH1 G>A	9	98211591	98211591	G	A	PTCH1	c.3564C>T	NM_000264.5	NP_000255.2:p.(Asn1188=)	NC_000009.11:g.98211591G>A	(Likely) benign	1 lab	4dbe83650c
2:167144974 SCN1A-AS1 A>T	2	167144974	167144974	A	T	SCN1A-AS1	n.1030-6101A>T	NR_110260.1		NC_000002.11:g.167144974A>T	(Likely) benign	1 lab	4dc21e186b
12:125292479 SCARB1 G>C	12	125292479	125292479	G	C	SCARB1	c.843-6C>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125292479G>C	VUS	1 lab	4dc6ecbd9b
9:107624389 ABCA1 T>C	9	107624389	107624389	T	C	ABCA1	c.422-308A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624389T>C	(Likely) benign	1 lab	4dc734a006
8:24813310 NEFL G>A	8	24813310	24813310	G	A	NEFL	c.720C>T	NM_006158.5	NP_006149.2:p.(Tyr240=)	NC_000008.10:g.24813310G>A	(Likely) benign	1 lab	4dca217fcb
15:73616483 HCN4 G>C	15	73616483	73616483	G	C	HCN4	c.2090C>G	NM_005477.3	NP_005468.1:p.(Pro697Arg)	NC_000015.9:g.73616483G>C	VUS	1 lab	4dca2b63f8
8:133909922 TG T>C	8	133909922	133909922	T	C	TG	c.3030T>C	NM_003235.5	NP_003226.4:p.(Phe1010=)	NC_000008.10:g.133909922T>C	(Likely) benign	1 lab	4dccff1fc8
15:72106363 NR2E3 C>A	15	72106363	72106363	C	A	NR2E3	c.1005C>A	NM_016346.4	NP_057430.1:p.(Gly335=)	NC_000015.9:g.72106363C>A	(Likely) benign	1 lab	4dcf540a36
1:55523183 PCSK9 G>T	1	55523183	55523183	G	T	PCSK9	c.1176G>T	NM_174936.4	NP_777596.2:p.(Val392=)	NC_000001.10:g.55523183G>T	(Likely) benign	1 lab	4dcfb96850
16:19619602 VPS35L C>CT	16	19619602	19619616	C	CT	VPS35L	c.881+20dup	NM_020314.7	NP_064710.5:p.?	NC_000016.9:g.19619616dup	(Likely) benign	1 lab	4dd63e2869
3:41277317 CTNNB1 A>G	3	41277317	41277317	A	G	CTNNB1	c.1786A>G	NM_001904.4	NP_001895.1:p.(Ile596Val)	NC_000003.11:g.41277317A>G	VUS	1 lab	4dd7dec36f
13:49039478 RB1 A>G	13	49039478	49039478	A	G	RB1	c.2463A>G	NM_000321.3	NP_000312.2:p.(Thr821=)	NC_000013.10:g.49039478A>G	(Likely) benign	1 lab	4ddd632be7
11:76872169 MYO7A G>T	11	76872169	76872169	G	T	MYO7A	c.1343+8G>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76872169G>T	(Likely) benign	1 lab	4ddf84e9ef
8:19812074 LPL C>T	8	19812074	19812074	C	T	LPL	c.775+210C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812074C>T	(Likely) benign	1 lab	4ddfee8b49
15:20740290 GOLGA6L6 T>TCG	15	20740290	20740292	T	TCG	GOLGA6L6	c.1380_1381dup	NM_001145004.2	NP_001138476.2:p.(Glu461GlyfsTer129)	NC_000015.9:g.20740291_20740292dup	(Likely) benign	1 lab	4de31758ad
16:960912 LMF1 G>A	16	960912	960912	G	A	LMF1	c.663+19C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.960912G>A	(Likely) benign	1 lab	4de41993dd
1:247025323 AHCTF1 G>A	1	247025323	247025323	G	A	AHCTF1	c.3700C>T	NM_015446.5	NP_056261.4:p.(Arg1234Ter)	NC_000001.10:g.247025323G>A	VUS	1 lab	4deaf72bc2
17:56283515 MKS1 G>C	17	56283515	56283515	G	C	MKS1	c.1605C>G	NM_017777.4	NP_060247.2:p.(Ala535=)	NC_000017.10:g.56283515G>C	(Likely) benign	1 lab	4dee7ba6c4
17:7906773 GUCY2D C>T	17	7906773	7906773	C	T	GUCY2D	c.408C>T	NM_000180.4	NP_000171.1:p.(Ala136=)	NC_000017.10:g.7906773C>T	(Likely) benign	1 lab	4def39a69b
10:123260362 FGFR2 G>A	10	123260362	123260362	G	A	FGFR2	c.1539C>T	NM_000141.5	NP_000132.3:p.(Thr513=)	NC_000010.10:g.123260362G>A	(Likely) benign	1 lab	4defb7a6d3
8:19811776 LPL T>C	8	19811776	19811776	T	C	LPL	c.687T>C	NM_000237.3	NP_000228.1:p.(His229=)	NC_000008.10:g.19811776T>C	(Likely) benign	1 lab	4df32c45bf
9:107591399 ABCA1 C>T	9	107591399	107591399	C	T	ABCA1	c.1913G>A	NM_005502.4	NP_005493.2:p.(Arg638Gln)	NC_000009.11:g.107591399C>T	(Likely) benign	1 lab	4df49ec5c3
20:54824511 MC3R C>T	20	54824511	54824511	C	T	MC3R	c.612C>T	NM_019888.3	NP_063941.3:p.(Gly204=)	NC_000020.10:g.54824511C>T	(Likely) benign	1 lab	4df6c9f6de
14:23885468 MYH7 G>A	14	23885468	23885468	G	A	MYH7	c.4698C>T	NM_000257.4	NP_000248.2:p.(Asn1566=)	NC_000014.8:g.23885468G>A	(Likely) benign	1 lab	4dfa648a3c
19:40903465 PRX C>A	19	40903465	40903465	C	A	PRX	c.794G>T	NM_181882.3	NP_870998.2:p.(Gly265Val)	NC_000019.9:g.40903465C>A	VUS	1 lab	4dfd66cb8c
16:919000 LMF1 G>A	16	919000	919000	G	A	LMF1	c.1393C>T	NM_001352020.1	NP_001338949.1:p.(Arg465Cys)	NC_000016.9:g.919000G>A	(Likely) benign	1 lab	4e0235cb5b
3:38627164 SCN5A G>GTGTGTGTGTGTGTGTGT	3	38627164	38627165	G	GTGTGTGTGTGTGTGTGT	SCN5A	c.2787+17_2787+18insACACACACACACACACA	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGT	(Likely) benign	1 lab	4e05a69b32
11:62383981 B3GAT3 A>C	11	62383981	62383981	A	C	B3GAT3	c.906T>G	NM_012200.4	NP_036332.2:p.(Thr302=)	NC_000011.9:g.62383981A>C	(Likely) benign	1 lab	4e0a48bb04
2:21232736 APOB T>C	2	21232736	21232736	T	C	APOB	c.7004A>G	NM_000384.3	NP_000375.3:p.(Asn2335Ser)	NC_000002.11:g.21232736T>C	VUS	1 lab	4e0bbc59cf
4:100515914 MTTP C>T	4	100515914	100515914	C	T	MTTP	c.783C>T	NM_000253.4	NP_000244.2:p.(Thr261=)	NC_000004.11:g.100515914C>T	(Likely) benign	1 lab	4e0bdc71ee
2:202598051 ALS2 C>T	2	202598051	202598051	C	T	ALS2	c.2528G>A	NM_020919.4	NP_065970.2:p.(Arg843Gln)	NC_000002.11:g.202598051C>T	(Likely) benign	1 lab	4e0bdf1af4
15:85400779 ALPK3 C>T	15	85400779	85400779	C	T	ALPK3	c.2810C>T	NM_020778.5	NP_065829.4:p.(Ala937Val)	NC_000015.9:g.85400779C>T	VUS	1 lab	4e0cbd4d3f
7:128497279 FLNC G>A	7	128497279	128497279	G	A	FLNC	c.7669G>A	NM_001458.5	NP_001449.3:p.(Glu2557Lys)	NC_000007.13:g.128497279G>A	VUS	1 lab	4e1b96e36c
1:156849888 NTRK1 T>C	1	156849888	156849888	T	C	NTRK1	c.2144T>C	NM_002529.4	NP_002520.2:p.(Val715Ala)	NC_000001.10:g.156849888T>C	(Likely) pathogenic	1 lab	4e1ce13a5d
3:38645456 SCN5A T>A	3	38645456	38645456	T	A	SCN5A	c.1637A>T	NM_198056.3	NP_932173.1:p.(Asp546Val)	NC_000003.11:g.38645456T>A	VUS	1 lab	4e1f9c935d
1:156105930 LMNA C>T	1	156105930	156105930	C	T	LMNA	c.1157+18C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105930C>T	(Likely) benign	1 lab	4e219bd8cd
14:102901023 TECPR2 G>A	14	102901023	102901023	G	A	TECPR2	c.1869G>A	NM_014844.5	NP_055659.2:p.(Gly623=)	NC_000014.8:g.102901023G>A	(Likely) benign	1 lab	4e22a52e7b
2:228609572 MISSING G>Alt too long to show for this DUP	2	228609572	228849097	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.228609573_228849097dup	VUS	1 lab	4e23f85b71
10:134504582 MISSING G>Alt too long to show for this DUP	10	134504582	134675250	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.134504586_134675250dup	(Likely) pathogenic	1 lab	4e248772ae
11:116662550 APOA5 G>A	11	116662550	116662550	G	A	APOA5	c.27C>T	NM_052968.5	NP_443200.2:p.(Thr9=)	NC_000011.9:g.116662550G>A	(Likely) benign	1 lab	4e25715fb6
10:124921726 BUB3 T>C	10	124921726	124921726	T	C	BUB3	c.577-26T>C	NM_004725.4	NP_004716.1:p.?	NC_000010.10:g.124921726T>C	(Likely) benign	1 lab	4e286711bb
14:92347623 FBLN5 C>T	14	92347623	92347623	C	T	FBLN5	c.989+13G>A	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92347623C>T	(Likely) benign	1 lab	4e3022aa01
18:77475546 CTDP1 G>A	18	77475546	77475546	G	A	CTDP1	c.2068+18G>A	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77475546G>A	(Likely) benign	1 lab	4e34da9235
4:120079291 MYOZ2 GACA>G	4	120079291	120079297	GACA	G	MYOZ2	c.365_367del	NM_016599.5	NP_057683.1:p.(Asn122del)	NC_000004.11:g.120079295_120079297del	VUS	1 lab	4e4165953f
1:40768324 COL9A2 G>A	1	40768324	40768324	G	A	COL9A2	c.1761C>T	NM_001852.4	NP_001843.1:p.(Ala587=)	NC_000001.10:g.40768324G>A	(Likely) benign	1 lab	4e4312c4b4
11:47369119 MYBPC3 G>A	11	47369119	47369119	G	A	MYBPC3	c.851+83C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369119G>A	(Likely) benign	1 lab	4e446c1465
1:72302289 NEGR1 Ref too long to show for this DEL>G	1	72302289	72431863	Ref too long to show for this DEL	G	NEGR1	c.177-30869_410-60310del	NM_173808.3	NP_776169.2:p.?	NC_000001.10:g.72302290_72431863del	VUS	1 lab	4e45f5cda3
4:89317853 MISSING Ref too long to show for this DEL>C	4	89317853	89383860	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.89317855_89383860del	VUS	1 lab	4e5315ef56
9:107562876 ABCA1 C>A	9	107562876	107562876	C	A	ABCA1	c.4699-11G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562876C>A	(Likely) benign	1 lab	4e57832732
6:7583486 DSP G>A	6	7583486	7583486	G	A	DSP	c.5991G>A	NM_004415.4	NP_004406.2:p.(Gly1997=)	NC_000006.11:g.7583486G>A	(Likely) benign	1 lab	4e5a6f2367
1:177937016 SEC16B C>T	1	177937016	177937016	C	T	SEC16B	c.101G>A	NM_033127.4	NP_149118.2:p.(Arg34Gln)	NC_000001.10:g.177937016C>T	(Likely) benign	1 lab	4e5cb6a9a5
12:125299577 SCARB1 G>C	12	125299577	125299577	G	C	SCARB1	c.368C>G	NM_001367981.1	NP_001354910.1:p.(Pro123Arg)	NC_000012.11:g.125299577G>C	VUS	1 lab	4e5d128bdb
X:39922966 BCOR G>A	X	39922966	39922966	G	A	BCOR	c.3742C>T	NM_001123385.2	NP_001116857.1:p.(Gln1248Ter)	NC_000023.10:g.39922966G>A	(Likely) pathogenic	1 lab	4e5db50cf6
3:195507941 MUC4 T>G	3	195507941	195507941	T	G	MUC4	c.10510A>C	NM_018406.7	NP_060876.5:p.(Thr3504Pro)	NC_000003.11:g.195507941T>G	(Likely) benign	1 lab	4e636cd687
2:233387829 PRSS56 T>C	2	233387829	233387829	T	C	PRSS56	c.766T>C	NM_001369848.1	NP_001356777.1:p.(Cys256Arg)	NC_000002.11:g.233387829T>C	VUS	1 lab	4e647eb3cf
17:1585164 PRPF8 G>A	17	1585164	1585164	G	A	PRPF8	c.603C>T	NM_006445.4	NP_006436.3:p.(Ala201=)	NC_000017.10:g.1585164G>A	(Likely) benign	1 lab	4e685bd7dc
X:154490194 RAB39B T>TC	X	154490194	154490200	T	TC	RAB39B	c.535dup	NM_171998.4	NP_741995.1:p.(Glu179GlyfsTer49)	NC_000023.10:g.154490200dup	(Likely) pathogenic	1 lab	4e749d16bd
12:21375306 SLCO1B1 G>GGAAAAAA	12	21375306	21375307	G	GGAAAAAA	SLCO1B1	c.1747+8_1747+9insGAAAAAA	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375306_21375307insGAAAAAA	(Likely) benign	1 lab	4e784e80cd
16:54318509 IRX3 C>T	16	54318509	54318509	C	T	IRX3	c.1284G>A	NM_024336.3	NP_077312.2:p.(Leu428=)	NC_000016.9:g.54318509C>T	(Likely) benign	1 lab	4e7c40359d
15:85401608 ALPK3 C>T	15	85401608	85401608	C	T	ALPK3	c.3639C>T	NM_020778.5	NP_065829.4:p.(Arg1213=)	NC_000015.9:g.85401608C>T	(Likely) benign	1 lab	4e7eb85b2d
2:179404323 TTN A>G	2	179404323	179404323	A	G	TTN	c.98469T>C	NM_001267550.2	NP_001254479.2:p.(Asp32823=)	NC_000002.11:g.179404323A>G	(Likely) benign	1 lab	4e7f0612e7
2:44053561 ABCG5 A>C	2	44053561	44053561	A	C	ABCG5	c.734T>G	NM_022436.3	NP_071881.1:p.(Val245Gly)	NC_000002.11:g.44053561A>C	VUS	1 lab	4e7f61465a
11:68671525 IGHMBP2 G>T	11	68671525	68671525	G	T	IGHMBP2	c.86+19G>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68671525G>T	(Likely) benign	1 lab	4e81bba4ce
1:197412251 CRB1 TAA>T	1	197412251	197412270	TAA	T	CRB1	c.3933+847_3933+848del	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197412269_197412270del	(Likely) benign	1 lab	4e875501e6
16:16248912 ABCC6 C>T	16	16248912	16248912	C	T	ABCC6	c.3541-24G>A	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16248912C>T	(Likely) benign	1 lab	4e888edc36
1:177930236 SEC16B C>T	1	177930236	177930236	C	T	SEC16B	c.788-162G>A	NM_033127.4	NP_149118.2:p.?	NC_000001.10:g.177930236C>T	(Likely) benign	1 lab	4e8df3b06f
22:50897921 SBF1 C>T	22	50897921	50897921	C	T	SBF1	c.3666G>A	NM_002972.4	NP_002963.2:p.(Lys1222=)	NC_000022.10:g.50897921C>T	(Likely) benign	1 lab	4e951f375c
19:50789940 MYH14 G>A	19	50789940	50789940	G	A	MYH14	c.4741G>A	NM_001145809.2	NP_001139281.1:p.(Val1581Ile)	NC_000019.9:g.50789940G>A	(Likely) benign	1 lab	4e953d061d
X:109445677 AMMECR1 G>C	X	109445677	109445677	G	C	AMMECR1	c.418C>G	NM_001171689.2	NP_001165160.1:p.(Gln140Glu)	NC_000023.10:g.109445677G>C	VUS	1 lab	4e9741c049
15:85383079 ALPK3 C>T	15	85383079	85383079	C	T	ALPK3	c.569C>T	NM_020778.5	NP_065829.4:p.(Ala190Val)	NC_000015.9:g.85383079C>T	VUS	1 lab	4e9c00d987
1:12061471 MFN2 A>G	1	12061471	12061471	A	G	MFN2	c.830A>G	NM_014874.4	NP_055689.1:p.(His277Arg)	NC_000001.10:g.12061471A>G	(Likely) pathogenic	1 lab	4e9efa3827
11:118501714 PHLDB1 C>T	11	118501714	118501714	C	T	PHLDB1	c.1828-210C>T	NM_015157.4	NP_055972.1:p.?	NC_000011.9:g.118501714C>T	(Likely) benign	1 lab	4eacc1346a
3:133692743 SLCO2A1 C>T	3	133692743	133692743	C	T	SLCO2A1	c.235-74G>A	NM_005630.3	NP_005621.2:p.?	NC_000003.11:g.133692743C>T	(Likely) benign	1 lab	4eae4bdf59
17:57684440 DHX40 T>C	17	57684440	57684440	T	C	DHX40	c.2247T>C	NM_024612.5	NP_078888.4:p.(Asp749=)	NC_000017.10:g.57684440T>C	(Likely) benign	1 lab	4eb152c27c
16:14014059 ERCC4 G>A	16	14014059	14014059	G	A	ERCC4	c.37G>A	NM_005236.3	NP_005227.1:p.(Ala13Thr)	NC_000016.9:g.14014059G>A	(Likely) benign	1 lab	4eb7289ba9
14:102478660 DYNC1H1 C>T	14	102478660	102478660	C	T	DYNC1H1	c.6867C>T	NM_001376.5	NP_001367.2:p.(Asp2289=)	NC_000014.8:g.102478660C>T	(Likely) benign	1 lab	4eb7a4c196
6:65149043 EYS T>C	6	65149043	65149043	T	C	EYS	c.5835+12A>G	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65149043T>C	(Likely) benign	1 lab	4eba32ed67
5:53751664 HSPB3 T>C	5	53751664	53751664	T	C	HSPB3	c.45T>C	NM_006308.3	NP_006299.1:p.(Arg15=)	NC_000005.9:g.53751664T>C	(Likely) benign	1 lab	4ebaad51d7
9:35061129 VCP C>T	9	35061129	35061129	C	T	VCP	c.1107G>A	NM_001354928.2	NP_001341857.1:p.(Leu369=)	NC_000009.11:g.35061129C>T	(Likely) benign	1 lab	4ebc0ef85b
1:161275927 MPZ C>A	1	161275927	161275927	C	A	MPZ	c.616G>T	NM_000530.8	NP_000521.2:p.(Gly206Ter)	NC_000001.10:g.161275927C>A	(Likely) pathogenic	1 lab	4ebfa7d5e3
5:11375989 CTNND2 Ref too long to show for this DEL>A	5	11375989	11470791	Ref too long to show for this DEL	A	CTNND2	c.288-58610_1177+8787del	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11375990_11470791del	(Likely) pathogenic	1 lab	4ec404596f
16:3562380 CLUAP1 C>T	16	3562380	3562380	C	T	CLUAP1	c.400-3C>T	NM_015041.3	NP_055856.1:p.?	NC_000016.9:g.3562380C>T	(Likely) benign	1 lab	4ec409f483
2:21231629 APOB G>A	2	21231629	21231629	G	A	APOB	c.8111C>T	NM_000384.3	NP_000375.3:p.(Ala2704Val)	NC_000002.11:g.21231629G>A	VUS	1 lab	4ec44ed411
9:131010967 DNM1 G>A	9	131010967	131010967	G	A	DNM1	c.2011G>A	NM_001288738.2	NP_001275667.1:p.(Ala671Thr)	NC_000009.11:g.131010967G>A	VUS	1 lab	4ec83c0a07
15:45399075 DUOX2 G>A	15	45399075	45399075	G	A	DUOX2	c.1786C>T	NM_001363711.2	NP_001350640.1:p.(Pro596Ser)	NC_000015.9:g.45399075G>A	(Likely) benign	1 lab	4ec911fae1
10:112579895 RBM20 A>G	10	112579895	112579895	A	G	RBM20	c.2616A>G	NM_001134363.3	NP_001127835.2:p.(Glu872=)	NC_000010.10:g.112579895A>G	(Likely) benign	1 lab	4ecad278f9
12:40805875 MUC19 C>CA	12	40805875	40805883	C	CA	MUC19	c.461dup	NM_173600.2	NP_775871.2:p.(Pro155AlafsTer4)	NC_000012.11:g.40805883dup	(Likely) benign	1 lab	4ecb61b45b
3:53781360 CACNA1D G>A	3	53781360	53781360	G	A	CACNA1D	c.3259G>A	NM_000720.4	NP_000711.1:p.(Val1087Ile)	NC_000003.11:g.53781360G>A	VUS	1 lab	4ecc9a93b9
2:21227522 APOB A>G	2	21227522	21227522	A	G	APOB	c.11814T>C	NM_000384.3	NP_000375.3:p.(Asp3938=)	NC_000002.11:g.21227522A>G	(Likely) benign	1 lab	4ed00ac734
11:65306972 LTBP3 G>A	11	65306972	65306972	G	A	LTBP3	c.3629-42C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65306972G>A	(Likely) benign	1 lab	4ed0ef33c1
2:179485028 TTN T>C	2	179485028	179485028	T	C	TTN	c.46220A>G	NM_001267550.2	NP_001254479.2:p.(Asp15407Gly)	NC_000002.11:g.179485028T>C	VUS	1 lab	4ed7f40425
9:140695399 EHMT1 T>G	9	140695399	140695399	T	G	EHMT1	c.2675T>G	NM_024757.5	NP_079033.4:p.(Leu892Arg)	NC_000009.11:g.140695399T>G	(Likely) pathogenic	1 lab	4edb241c71
9:32986034 APTX A>AAAAAAC	9	32986034	32986040	A	AAAAAAC	APTX	c.484-7_484-6insGTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAA	(Likely) benign	1 lab	4edccca2bb
16:10031923 GRIN2A G>A	16	10031923	10031923	G	A	GRIN2A	c.900C>T	NM_001134407.3	NP_001127879.1:p.(Thr300=)	NC_000016.9:g.10031923G>A	(Likely) benign	1 lab	4ee1989059
2:25141275 ADCY3 G>A	2	25141275	25141275	G	A	ADCY3	c.582C>T	NM_001377128.1	NP_001364057.1:p.(Ser194=)	NC_000002.11:g.25141275G>A	(Likely) benign	1 lab	4eef56d0d1
15:74219903 LOXL1 T>TGCC	15	74219903	74219921	T	TGCC	LOXL1	c.795_797dup	NM_005576.4	NP_005567.2:p.(Pro267dup)	NC_000015.9:g.74219919_74219921dup	(Likely) benign	1 lab	4ef1b251a7
16:53690422 RPGRIP1L A>T	16	53690422	53690422	A	T	RPGRIP1L	c.1661T>A	NM_001308334.3	NP_001295263.1:p.(Leu554His)	NC_000016.9:g.53690422A>T	VUS	1 lab	4ef31a96d5
4:114199722 ANK2 C>G	4	114199722	114199722	C	G	ANK2	c.1881+8C>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114199722C>G	(Likely) benign	1 lab	4ef5bb0b9d
17:17696715 RAI1 G>GC	17	17696715	17696721	G	GC	RAI1	c.459dup	NM_030665.4	NP_109590.3:p.(Ser154GlnfsTer84)	NC_000017.10:g.17696721dup	(Likely) pathogenic	1 lab	4ef992b13b
12:5154173 KCNA5 C>T	12	5154173	5154173	C	T	KCNA5	c.860C>T	NM_002234.4	NP_002225.2:p.(Ala287Val)	NC_000012.11:g.5154173C>T	(Likely) benign	1 lab	4efa0a112f
9:107599339 ABCA1 A>G	9	107599339	107599339	A	G	ABCA1	c.1233T>C	NM_005502.4	NP_005493.2:p.(Asp411=)	NC_000009.11:g.107599339A>G	(Likely) benign	1 lab	4efb9b553d
3:38791663 SCN10A C>T	3	38791663	38791663	C	T	SCN10A	c.1768G>A	NM_006514.4	NP_006505.4:p.(Gly590Arg)	NC_000003.11:g.38791663C>T	(Likely) benign	1 lab	4f0120fbf1
21:35821785 KCNE1 C>T	21	35821785	35821785	C	T	KCNE1	c.148G>A	NM_001127670.4	NP_001121142.1:p.(Val50Ile)	NC_000021.8:g.35821785C>T	VUS	1 lab	4f09f84a4c
7:100275772 GNB2 C>T	7	100275772	100275772	C	T	GNB2	c.549C>T	NM_005273.4	NP_005264.2:p.(His183=)	NC_000007.13:g.100275772C>T	(Likely) benign	1 lab	4f1325113b
2:113984812 PAX8 G>A	2	113984812	113984812	G	A	PAX8	c.1109C>T	NM_003466.4	NP_003457.1:p.(Thr370Met)	NC_000002.11:g.113984812G>A	VUS	1 lab	4f13355bd4
9:101910091 TGFBR1 G>T	9	101910091	101910091	G	T	TGFBR1	c.1386+25G>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101910091G>T	(Likely) benign	1 lab	4f1c71f618
2:29294626 PCARE A>G	2	29294626	29294626	A	G	PCARE	c.2502T>C	NM_001029883.3	NP_001025054.1:p.(Pro834=)	NC_000002.11:g.29294626A>G	(Likely) benign	1 lab	4f21ee95fe
17:79518110 FAAP100 T>C	17	79518110	79518110	T	C	FAAP100	c.410A>G	NM_025161.6	NP_079437.5:p.(Asp137Gly)	NC_000017.10:g.79518110T>C	(Likely) benign	1 lab	4f2301d092
2:85769880 MAT2A CTT>C	2	85769880	85769883	CTT	C	MAT2A	c.951+12_951+13del	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85769882_85769883del	(Likely) benign	1 lab	4f24df4dc6
16:77397728 ADAMTS18 C>G	16	77397728	77397728	C	G	ADAMTS18	c.1027G>C	NM_199355.4	NP_955387.1:p.(Val343Leu)	NC_000016.9:g.77397728C>G	VUS	1 lab	4f25ee0e18
11:70332599 SHANK2 G>A	11	70332599	70332599	G	A	SHANK2	c.2035C>T	NM_133266.5	NP_573573.2:p.(Gln679Ter)	NC_000011.9:g.70332599G>A	(Likely) pathogenic	1 lab	4f2cd75087
9:35066775 VCP G>C	9	35066775	35066775	G	C	VCP	c.342C>G	NM_007126.5	NP_009057.1:p.(Ile114Met)	NC_000009.11:g.35066775G>C	VUS	1 lab	4f36afbbd0
1:12059092 MFN2 C>T	1	12059092	12059092	C	T	MFN2	c.756C>T	NM_014874.4	NP_055689.1:p.(Asn252=)	NC_000001.10:g.12059092C>T	(Likely) benign	1 lab	4f3b0f7e04
15:44914485 SPG11 C>T	15	44914485	44914485	C	T	SPG11	c.2377G>A	NM_025137.4	NP_079413.3:p.(Val793Met)	NC_000015.9:g.44914485C>T	(Likely) benign	1 lab	4f3c6d8d11
22:29881744 NEFH G>A	22	29881744	29881744	G	A	NEFH	c.1116G>A	NM_021076.4	NP_066554.2:p.(Arg372=)	NC_000022.10:g.29881744G>A	(Likely) benign	1 lab	4f3d3db16c
20:61981579 CHRNA4 G>A	20	61981579	61981579	G	A	CHRNA4	c.1184C>T	NM_000744.7	NP_000735.1:p.(Thr395Met)	NC_000020.10:g.61981579G>A	VUS	1 lab	4f44fb435a
2:44099211 ABCG8 G>A	2	44099211	44099211	G	A	ABCG8	c.1061G>A	NM_022437.3	NP_071882.1:p.(Arg354His)	NC_000002.11:g.44099211G>A	VUS	1 lab	4f459b27b1
12:122261162 SETD1B C>T	12	122261162	122261162	C	T	SETD1B	c.4677C>T	NM_001353345.2	NP_001340274.1:p.(Pro1559=)	NC_000012.11:g.122261162C>T	(Likely) benign	1 lab	4f4f5af976
16:81410946 GAN C>G	16	81410946	81410946	C	G	GAN	c.1612+13C>G	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81410946C>G	(Likely) benign	1 lab	4f511fa8de
19:11210843 LDLR T>C	19	11210843	11210843	T	C	LDLR	c.68-56T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210843T>C	(Likely) benign	1 lab	4f525d8fae
10:68979386 CTNNA3 T>G	10	68979386	68979386	T	G	CTNNA3	c.822A>C	NM_013266.4	NP_037398.2:p.(Gly274=)	NC_000010.10:g.68979386T>G	(Likely) benign	1 lab	4f541aa5e7
4:100542167 MTTP A>T	4	100542167	100542167	A	T	MTTP	c.2343-51A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100542167A>T	(Likely) benign	1 lab	4f59fb443b
16:1020768 LMF1 CG>C	16	1020768	1020771	CG	C	LMF1	c.-362+10376del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020771del	(Likely) benign	1 lab	4f6f0c9975
18:58038947 MC4R A>G	18	58038947	58038947	A	G	MC4R	c.636T>C	NM_005912.3	NP_005903.2:p.(Tyr212=)	NC_000018.9:g.58038947A>G	(Likely) benign	1 lab	4f78cb7f47
21:34923252 SON T>A	21	34923252	34923252	T	A	SON	c.1715T>A	NM_138927.4	NP_620305.3:p.(Leu572Ter)	NC_000021.8:g.34923252T>A	(Likely) pathogenic	1 lab	4f7982e7cd
12:631570 MISSING Ref too long to show for this DEL>A	12	631570	749261	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.631572_749261del	VUS	1 lab	4f807a00d1
8:145001588 PLEC C>T	8	145001588	145001588	C	T	PLEC	c.4157G>A	NM_201380.4	NP_958782.1:p.(Arg1386Gln)	NC_000008.10:g.145001588C>T	(Likely) benign	1 lab	4f86ea173d
1:74957854 TNNI3K G>A	1	74957854	74957854	G	A	TNNI3K	c.2255G>A	NM_015978.3	NP_057062.1:p.(Arg752Gln)	NC_000001.10:g.74957854G>A	VUS	1 lab	4f885d349d
18:47091695 LIPG C>T	18	47091695	47091695	C	T	LIPG	c.106C>T	NM_006033.4	NP_006024.1:p.(His36Tyr)	NC_000018.9:g.47091695C>T	(Likely) benign	1 lab	4f8d2b80dd
22:25010872 GGT1 A>T	22	25010872	25010872	A	T	GGT1	c.294A>T	NM_001288833.2	NP_001275762.1:p.(Thr98=)	NC_000022.10:g.25010872A>T	(Likely) benign	1 lab	4f92aa78a9
18:25570309 CDH2 G>A	18	25570309	25570309	G	A	CDH2	c.1350C>T	NM_001792.5	NP_001783.2:p.(Ile450=)	NC_000018.9:g.25570309G>A	(Likely) benign	1 lab	4f92fc7f2a
4:166418717 CPE A>G	4	166418717	166418717	A	G	CPE	c.1386A>G	NM_001873.4	NP_001864.1:p.(Glu462=)	NC_000004.11:g.166418717A>G	(Likely) benign	1 lab	4f93b3e930
8:71616955 XKR9 Ref too long to show for this DEL>T	8	71616955	71647311	Ref too long to show for this DEL	T	XKR9	c.273-2211_*652del	NM_001011720.2	NP_001011720.1:p.?	NC_000008.10:g.71616957_71647311del	VUS	1 lab	4f95b313ff
2:73635882 ALMS1 C>A	2	73635882	73635882	C	A	ALMS1	c.453+7C>A	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73635882C>A	(Likely) benign	1 lab	4f978bd75f
7:128480658 FLNC G>A	7	128480658	128480658	G	A	FLNC	c.1606G>A	NM_001458.5	NP_001449.3:p.(Glu536Lys)	NC_000007.13:g.128480658G>A	VUS	1 lab	4f97fce1be
15:48760854 FBN1 C>T	15	48760854	48760854	C	T	FBN1	c.4460-123G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760854C>T	(Likely) benign	1 lab	4f997e1fb1
6:169637428 THBS2 G>T	6	169637428	169637428	G	T	THBS2	c.1314C>A	NM_003247.5	NP_003238.2:p.(Gly438=)	NC_000006.11:g.169637428G>T	(Likely) benign	1 lab	4f9a59c663
X:69427737 MISSING Ref too long to show for this DEL>G	X	69427737	69460765	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.69427740_69460765del	VUS	1 lab	4f9d6425c5
7:150644759 KCNH2 G>A	7	150644759	150644759	G	A	KCNH2	c.2900C>T	NM_000238.4	NP_000229.1:p.(Pro967Leu)	NC_000007.13:g.150644759G>A	(Likely) benign	1 lab	4fa00b3c88
22:20366366 MISSING A>Alt too long to show for this DUP	22	20366366	20461301	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20366369_20461301dup	(Likely) pathogenic	1 lab	4fa4f31cf6
2:179454976 TTN T>C	2	179454976	179454976	T	C	TTN	c.61476A>G	NM_001267550.2	NP_001254479.2:p.(Gln20492=)	NC_000002.11:g.179454976T>C	(Likely) benign	1 lab	4fac5edfb1
9:463428 DOCK8 T>C	9	463428	463428	T	C	DOCK8	c.6069-89T>C	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.463428T>C	(Likely) benign	1 lab	4fb0827494
17:78082504 GAA GT>G	17	78082504	78082505	GT	G	GAA	c.1204del	NM_000152.5	NP_000143.2:p.(Trp402GlyfsTer38)	NC_000017.10:g.78082505del	(Likely) pathogenic	1 lab	4fb9ce87ac
2:179590670 TTN T>C	2	179590670	179590670	T	C	TTN	c.20379A>G	NM_001267550.2	NP_001254479.2:p.(Val6793=)	NC_000002.11:g.179590670T>C	(Likely) benign	1 lab	4fbdcc950b
11:116662358 APOA5 G>A	11	116662358	116662358	G	A	APOA5	c.105C>T	NM_052968.5	NP_443200.2:p.(Ser35=)	NC_000011.9:g.116662358G>A	(Likely) benign	1 lab	4fc4652fe6
17:1096451 MISSING G>Alt too long to show for this DUP	17	1096451	1683037	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.1096452_1683037dup	(Likely) pathogenic	1 lab	4fc859494e
2:179400115 TTN G>A	2	179400115	179400115	G	A	TTN	c.101227C>T	NM_001267550.2	NP_001254479.2:p.(Arg33743Ter)	NC_000002.11:g.179400115G>A	(Likely) pathogenic	1 lab	4fcb4371e9
16:919002 LMF1 C>T	16	919002	919002	C	T	LMF1	c.1072G>A	NM_001352018.2	NP_001338947.1:p.(Asp358Asn)	NC_000016.9:g.919002C>T	VUS	1 lab	4fcd1d3835
9:107575281 ABCA1 G>T	9	107575281	107575281	G	T	ABCA1	c.3902-278C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107575281G>T	(Likely) benign	1 lab	4fd3c5a3e6
7:128506662 SPMIP1 G>C	7	128506662	128506662	G	C	SPMIP1	c.199G>C	NM_001195150.3	NP_001182079.1:p.(Ala67Pro)	NC_000007.13:g.128506662G>C	(Likely) benign	1 lab	4fd6c5b5fc
8:144362952 MISSING T>Alt too long to show for this DUP	8	144362952	144427982	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.144362954_144427982dup	VUS	1 lab	4fd9ab1d7f
5:149360401 SLC26A2 C>A	5	149360401	149360401	C	A	SLC26A2	c.1245C>A	NM_000112.4	NP_000103.2:p.(Asn415Lys)	NC_000005.9:g.149360401C>A	(Likely) pathogenic	1 lab	4fda819ff5
7:124469391 POT1 TTACA>T	7	124469391	124469396	TTACA	T	POT1	c.1507_1510del	NM_015450.3	NP_056265.2:p.(Cys503AsnfsTer6)	NC_000007.13:g.124469393_124469396del	(Likely) pathogenic	1 lab	4fde51ef11
12:5154786 KCNA5 T>C	12	5154786	5154786	T	C	KCNA5	c.1473T>C	NM_002234.4	NP_002225.2:p.(Val491=)	NC_000012.11:g.5154786T>C	(Likely) benign	1 lab	4fe7ca974b
1:3301869 PRDM16 CAG>C	1	3301869	3301871	CAG	C	PRDM16	c.573+20_573+21del	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3301870_3301871del	(Likely) benign	1 lab	4fea7ebf7c
19:7531803 ARHGEF18 G>T	19	7531803	7531803	G	T	ARHGEF18	c.2905-1G>T	NM_001367823.1	NP_001354752.1:p.?	NC_000019.9:g.7531803G>T	(Likely) pathogenic	1 lab	4feb7840f9
16:28877659 SH2B1 C>A	16	28877659	28877659	C	A	SH2B1	c.244C>A	NM_015503.3	NP_056318.2:p.(Arg82=)	NC_000016.9:g.28877659C>A	(Likely) benign	1 lab	4fee8dd30d
9:107568546 ABCA1 C>A	9	107568546	107568546	C	A	ABCA1	c.4440G>T	NM_005502.4	NP_005493.2:p.(Gly1480=)	NC_000009.11:g.107568546C>A	(Likely) benign	1 lab	4ff17576cd
1:156841418 NTRK1 T>TC	1	156841418	156841419	T	TC	NTRK1	c.722dup	NM_002529.4	NP_002520.2:p.(Gly242TrpfsTer16)	NC_000001.10:g.156841419dup	(Likely) pathogenic	1 lab	4ff3e5a7ca
8:1857629 ARHGEF10 G>A	8	1857629	1857629	G	A	ARHGEF10	c.2208G>A	NM_001308153.2	NP_001295082.1:p.(Ala736=)	NC_000008.10:g.1857629G>A	(Likely) benign	1 lab	4ff67a1360
19:11347455 DOCK6 G>A	19	11347455	11347455	G	A	DOCK6	c.2160+14C>T	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11347455G>A	(Likely) benign	1 lab	4ffde068b2
12:978080 WNK1 A>AT	12	978080	978084	A	AT	WNK1	c.3192dup	NM_001184985.2	NP_001171914.1:p.(Gln1065SerfsTer16)	NC_000012.11:g.978084dup	(Likely) pathogenic	1 lab	50005dbefd
2:189871679 COL3A1 C>CTGGT	2	189871679	189871683	C	CTGGT	COL3A1	c.3219_3222dup	NM_000090.4	NP_000081.2:p.(Ala1075TrpfsTer20)	NC_000002.11:g.189871680_189871683dup	(Likely) pathogenic	1 lab	5002b15b4b
10:85961616 CDHR1 G>A	10	85961616	85961616	G	A	CDHR1	c.579G>A	NM_033100.4	NP_149091.1:p.(Gln193=)	NC_000010.10:g.85961616G>A	(Likely) benign	1 lab	5002f31839
1:180217433 LHX4 C>T	1	180217433	180217433	C	T	LHX4	c.90C>T	NM_033343.4	NP_203129.1:p.(Cys30=)	NC_000001.10:g.180217433C>T	(Likely) benign	1 lab	50053d3828
9:95030550 MISSING Ref too long to show for this DEL>C	9	95030550	95367674	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.95030552_95367674del	VUS	1 lab	50066b11ef
1:55523881 PCSK9 A>C	1	55523881	55523881	A	C	PCSK9	c.1353A>C	NM_174936.4	NP_777596.2:p.(Ala451=)	NC_000001.10:g.55523881A>C	VUS	1 lab	5008e6037f
9:72055981 APBA1 C>T	9	72055981	72055981	C	T	APBA1	c.2232G>A	NM_001163.4	NP_001154.2:p.(Pro744=)	NC_000009.11:g.72055981C>T	(Likely) benign	1 lab	501434df9a
1:156844811 NTRK1 G>C	1	156844811	156844811	G	C	NTRK1	c.1354+11G>C	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156844811G>C	(Likely) benign	1 lab	501edee31b
17:59934493 BRIP1 T>C	17	59934493	59934493	T	C	BRIP1	c.305A>G	NM_032043.3	NP_114432.2:p.(Gln102Arg)	NC_000017.10:g.59934493T>C	VUS	1 lab	5024100a33
19:39002893 RYR1 T>C	19	39002893	39002893	T	C	RYR1	c.9242T>C	NM_000540.3	NP_000531.2:p.(Met3081Thr)	NC_000019.9:g.39002893T>C	VUS	1 lab	5025fdef84
11:65306682 LTBP3 G>A	11	65306682	65306682	G	A	LTBP3	c.3781C>T	NM_001130144.3	NP_001123616.1:p.(Leu1261=)	NC_000011.9:g.65306682G>A	(Likely) benign	1 lab	50288111f7
2:47702168 MSH2 T>C	2	47702168	47702168	T	C	MSH2	c.1764T>C	NM_000251.3	NP_000242.1:p.(Tyr588=)	NC_000002.11:g.47702168T>C	(Likely) benign	1 lab	502b80b881
2:179404373 TTN C>T	2	179404373	179404373	C	T	TTN	c.90715G>A	NM_133378.4	NP_596869.4:p.(Asp30239Asn)	NC_000002.11:g.179404373C>T	VUS	1 lab	503465e84b
5:86670690 CCNH A>T	5	86670690	86670690	A	T	CCNH	c.933+20171T>A	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86670690A>T	(Likely) benign	1 lab	5039560aa8
19:55317429 KIR2DL4 A>T	19	55317429	55317429	A	T	KIR2DL4	c.385A>T	NM_001080772.2	NP_001074241.1:p.(Thr129Ser)	NC_000019.9:g.55317429A>T	(Likely) benign	1 lab	5041b50951
16:21809228 MISSING Ref too long to show for this DEL>A	16	21809228	22730730	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.21809229_22730730del	(Likely) pathogenic	1 lab	504657128e
14:76219277 TTLL5 C>A	14	76219277	76219277	C	A	TTLL5	c.1529C>A	NM_015072.5	NP_055887.3:p.(Ala510Glu)	NC_000014.8:g.76219277C>A	VUS	1 lab	504c24e054
8:61768607 CHD7 G>GCCAGATGTTTGATTT	8	61768607	61768625	G	GCCAGATGTTTGATTT	CHD7	c.7014_7028dup	NM_017780.4	NP_060250.2:p.(Met2339_Gln2343dup)	NC_000008.10:g.61768611_61768625dup	VUS	1 lab	504c50c581
16:242981 MISSING Ref too long to show for this DEL>G	16	242981	350936	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.242982_350936del	VUS	1 lab	504e35b5b5
7:128490502 FLNC T>G	7	128490502	128490502	T	G	FLNC	c.5363T>G	NM_001458.5	NP_001449.3:p.(Val1788Gly)	NC_000007.13:g.128490502T>G	VUS	1 lab	5051a2f9a0
1:13936974 PDPN C>T	1	13936974	13936974	C	T	PDPN	c.294C>T	NM_006474.5	NP_006465.4:p.(Ser98=)	NC_000001.10:g.13936974C>T	(Likely) benign	1 lab	5052ef632c
2:179472265 TTN C>T	2	179472265	179472265	C	T	TTN	c.53150G>A	NM_001267550.2	NP_001254479.2:p.(Arg17717His)	NC_000002.11:g.179472265C>T	VUS	1 lab	5059904431
20:42744691 JPH2 G>A	20	42744691	42744691	G	A	JPH2	c.1624C>T	NM_020433.5	NP_065166.2:p.(Arg542Cys)	NC_000020.10:g.42744691G>A	VUS	1 lab	505a5f5d19
11:47366427 MYBPC3 T>C	11	47366427	47366427	T	C	MYBPC3	c.1091-1252A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366427T>C	(Likely) benign	1 lab	5065d3869d
11:1018303 MUC6 G>A	11	1018303	1018303	G	A	MUC6	c.4498C>T	NM_005961.3	NP_005952.2:p.(Pro1500Ser)	NC_000011.9:g.1018303G>A	(Likely) benign	1 lab	508d6c69fe
1:92713557 GLMN TGAAA>T	1	92713557	92713564	TGAAA	T	GLMN	c.1474-15_1474-12del	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92713561_92713564del	(Likely) benign	1 lab	506ee1642d
8:92170323 LRRC69 G>Alt too long to show for this DUP	8	92170323	92201875	G	Alt too long to show for this DUP	LRRC69	c.651+22357_753+24dup	NM_001129890.2	NP_001123362.1:p.?	NC_000008.10:g.92170324_92201875dup	VUS	1 lab	507153dc1b
1:3342750 PRDM16 A>G	1	3342750	3342750	A	G	PRDM16	c.3245A>G	NM_022114.4	NP_071397.3:p.(Asn1082Ser)	NC_000001.10:g.3342750A>G	VUS	1 lab	5072137180
X:53239740 KDM5C C>A	X	53239740	53239740	C	A	KDM5C	c.1602G>T	NM_004187.5	NP_004178.2:p.(Trp534Cys)	NC_000023.10:g.53239740C>A	(Likely) pathogenic	1 lab	50782285f1
17:39262233 KRTAP4-9 G>C	17	39262233	39262233	G	C	KRTAP4-9	c.593G>C	NM_001146041.1	NP_001139513.1:p.(Ser198Thr)	NC_000017.10:g.39262233G>C	(Likely) benign	1 lab	507b9572c7
6:56464903 DST G>T	6	56464903	56464903	G	T	DST	c.5301C>A	NM_001144769.5	NP_001138241.1:p.(Gly1767=)	NC_000006.11:g.56464903G>T	(Likely) benign	1 lab	50857de2da
22:29092889 CHEK2 C>G	22	29092889	29092889	C	G	CHEK2	c.1095G>C	NM_007194.4	NP_009125.1:p.(Lys365Asn)	NC_000022.10:g.29092889C>G	VUS	1 lab	508672d1df
X:153640455 TAFAZZIN G>C	X	153640455	153640455	G	C	TAFAZZIN	c.142G>C	NM_000116.5	NP_000107.1:p.(Glu48Gln)	NC_000023.10:g.153640455G>C	VUS	1 lab	508ab7ba15
7:94051201 COL1A2 T>C	7	94051201	94051201	T	C	COL1A2	c.2350-10T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94051201T>C	(Likely) benign	1 lab	508abc4790
9:102988344 INVS G>T	9	102988344	102988344	G	T	INVS	c.274G>T	NM_014425.5	NP_055240.2:p.(Gly92Ter)	NC_000009.11:g.102988344G>T	(Likely) pathogenic	1 lab	508b180200
X:38134323 RPGR T>C	X	38134323	38134323	T	C	RPGR	c.2149+19A>G	NM_000328.3	NP_000319.1:p.?	NC_000023.10:g.38134323T>C	(Likely) benign	1 lab	50905564f8
16:15484208 MISSING Ref too long to show for this DEL>C	16	15484208	16443998	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.15484209_16443998del	(Likely) pathogenic	1 lab	5093fa1fbc
2:44100601 ABCG8 G>A	2	44100601	44100601	G	A	ABCG8	c.1212-325G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44100601G>A	(Likely) benign	1 lab	5097271bad
8:134125733 TG T>A	8	134125733	134125733	T	A	TG	c.7640T>A	NM_003235.5	NP_003226.4:p.(Leu2547Gln)	NC_000008.10:g.134125733T>A	(Likely) benign	1 lab	5098888db4
12:116401227 MED13L G>A	12	116401227	116401227	G	A	MED13L	c.6485C>T	NM_015335.5	NP_056150.1:p.(Thr2162Met)	NC_000012.11:g.116401227G>A	(Likely) pathogenic	1 lab	509c638935
8:19813439 LPL C>T	8	19813439	19813439	C	T	LPL	c.863C>T	NM_000237.3	NP_000228.1:p.(Ala288Val)	NC_000008.10:g.19813439C>T	VUS	1 lab	50a0e10f64
2:25383953 POMC C>T	2	25383953	25383953	C	T	POMC	c.801G>A	NM_001035256.3	NP_001030333.1:p.(Glu267=)	NC_000002.11:g.25383953C>T	(Likely) benign	1 lab	50a2709dd7
3:30691892 TGFBR2 ACTTT>A	3	30691892	30691899	ACTTT	A	TGFBR2	c.473_476del	NM_001024847.2	NP_001020018.1:p.(Phe158SerfsTer29)	NC_000003.11:g.30691896_30691899del	VUS	1 lab	50a5e68138
7:92118735 PEX1 C>G	7	92118735	92118735	C	G	PEX1	c.3015G>C	NM_001282678.2	NP_001269607.1:p.(Glu1005Asp)	NC_000007.13:g.92118735C>G	VUS	1 lab	50acbcb8db
4:121589737 MISSING C>Alt too long to show for this DUP	4	121589737	121797842	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.121589740_121797842dup	VUS	1 lab	50ad104c42
9:116930027 COL27A1 C>T	9	116930027	116930027	C	T	COL27A1	c.192C>T	NM_032888.4	NP_116277.2:p.(Pro64=)	NC_000009.11:g.116930027C>T	(Likely) benign	1 lab	50b42a88c9
3:101023132 IMPG2 G>A	3	101023132	101023132	G	A	IMPG2	c.359C>T	NM_016247.4	NP_057331.2:p.(Ala120Val)	NC_000003.11:g.101023132G>A	VUS	1 lab	50b8abaf68
2:179611634 TTN C>T	2	179611634	179611634	C	T	TTN	c.15493G>A	NM_133379.5	NP_596870.2:p.(Asp5165Asn)	NC_000002.11:g.179611634C>T	(Likely) benign	1 lab	50ba794007
17:42960488 EFTUD2 C>T	17	42960488	42960488	C	T	EFTUD2	c.465G>A	NM_001258353.2	NP_001245282.1:p.(Pro155=)	NC_000017.10:g.42960488C>T	(Likely) benign	1 lab	50bef683ec
16:88496497 ZNF469 TTCCGGCCCCAGAGGTCCCAGC>T	16	88496497	88496523	TTCCGGCCCCAGAGGTCCCAGC	T	ZNF469	c.2625_2645del	NM_001367624.2	NP_001354553.1:p.(Pro876_Gly882del)	NC_000016.9:g.88496503_88496523del	(Likely) benign	1 lab	50bf156fb9
4:39271679 WDR19 G>A	4	39271679	39271679	G	A	WDR19	c.3442G>A	NM_025132.4	NP_079408.3:p.(Ala1148Thr)	NC_000004.11:g.39271679G>A	VUS	1 lab	50bfa8f154
11:116703464 APOC3 C>T	11	116703464	116703464	C	T	APOC3	c.180-16C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703464C>T	(Likely) benign	1 lab	50c208fda5
9:139749275 MAMDC4 C>T	9	139749275	139749275	C	T	MAMDC4	c.996C>T	NM_206920.3	NP_996803.2:p.(Phe332=)	NC_000009.11:g.139749275C>T	(Likely) benign	1 lab	50c63a9d1a
17:39975699 FKBP10 A>G	17	39975699	39975699	A	G	FKBP10	c.917+48A>G	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39975699A>G	(Likely) benign	1 lab	50cc7da31d
X:103041659 PLP1 A>T	X	103041659	103041659	A	T	PLP1	c.453+4A>T	NM_001128834.3	NP_001122306.1:p.?	NC_000023.10:g.103041659A>T	(Likely) pathogenic	1 lab	50d0d33cd7
X:38129003 RPGR A>G	X	38129003	38129003	A	G	RPGR	c.2324T>C	NM_000328.3	NP_000319.1:p.(Ile775Thr)	NC_000023.10:g.38129003A>G	(Likely) benign	1 lab	50d4893e1e
11:10222978 SBF2 Ref too long to show for this DEL>A	11	10222978	10233083	Ref too long to show for this DEL	A	SBF2	c.56-17549_56-7445del	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.10222979_10233083del	VUS	1 lab	50d4c85638
1:43215861 P3H1 G>A	1	43215861	43215861	G	A	P3H1	c.1716C>T	NM_022356.4	NP_071751.3:p.(Ile572=)	NC_000001.10:g.43215861G>A	(Likely) benign	1 lab	50d4f7ff68
15:67458953 SMAD3 C>A	15	67458953	67458953	C	A	SMAD3	c.533-164C>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67458953C>A	(Likely) benign	1 lab	50da39d501
2:179577551 TTN C>T	2	179577551	179577551	C	T	TTN	c.27201G>A	NM_001267550.2	NP_001254479.2:p.(Val9067=)	NC_000002.11:g.179577551C>T	(Likely) benign	1 lab	50e153e0e7
11:68191149 LRP5 G>T	11	68191149	68191149	G	T	LRP5	c.3220G>T	NM_002335.4	NP_002326.2:p.(Val1074Phe)	NC_000011.9:g.68191149G>T	VUS	1 lab	50e5956e1c
3:52486167 TNNC1 T>C	3	52486167	52486167	T	C	TNNC1	c.157A>G	NM_003280.3	NP_003271.1:p.(Thr53Ala)	NC_000003.11:g.52486167T>C	VUS	1 lab	50e85b76de
X:122311942 MISSING A>Alt too long to show for this DUP	X	122311942	122896336	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.122311943_122896336dup	(Likely) pathogenic	1 lab	50e9f05b7b
16:49672280 ZNF423 G>A	16	49672280	49672280	G	A	ZNF423	c.807C>T	NM_001379286.1	NP_001366215.1:p.(Asp269=)	NC_000016.9:g.49672280G>A	(Likely) benign	1 lab	50eabba1f4
20:10622509 JAG1 A>G	20	10622509	10622509	A	G	JAG1	c.2604T>C	NM_000214.3	NP_000205.1:p.(Ser868=)	NC_000020.10:g.10622509A>G	(Likely) benign	1 lab	50eb2dd0ff
2:179500348 TTN A>G	2	179500348	179500348	A	G	TTN	c.41703T>C	NM_001267550.2	NP_001254479.2:p.(Thr13901=)	NC_000002.11:g.179500348A>G	(Likely) benign	1 lab	50f2e2f48b
X:70443577 GJB1 A>G	X	70443577	70443577	A	G	GJB1	c.20A>G	NM_000166.6	NP_000157.1:p.(Tyr7Cys)	NC_000023.10:g.70443577A>G	(Likely) pathogenic	1 lab	50fc67f3b3
18:10758023 PIEZO2 G>A	18	10758023	10758023	G	A	PIEZO2	c.3792C>T	NM_022068.4	NP_071351.2:p.(Asn1264=)	NC_000018.9:g.10758023G>A	(Likely) benign	1 lab	50fcce9896
7:91699349 AKAP9 A>G	7	91699349	91699349	A	G	AKAP9	c.6336A>G	NM_005751.5	NP_005742.4:p.(Glu2112=)	NC_000007.13:g.91699349A>G	(Likely) benign	1 lab	51022afe37
2:238283404 COL6A3 G>A	2	238283404	238283404	G	A	COL6A3	c.3330C>T	NM_004369.4	NP_004360.2:p.(Ala1110=)	NC_000002.11:g.238283404G>A	(Likely) benign	1 lab	5103ae3401
2:179497429 TTN G>A	2	179497429	179497429	G	A	TTN	c.43304C>T	NM_001267550.2	NP_001254479.2:p.(Pro14435Leu)	NC_000002.11:g.179497429G>A	VUS	1 lab	5106fc5ee5
22:29095899 CHEK2 T>G	22	29095899	29095899	T	G	CHEK2	c.935A>C	NM_007194.4	NP_009125.1:p.(Lys312Thr)	NC_000022.10:g.29095899T>G	VUS	1 lab	5109474645
2:21228410 APOB G>T	2	21228410	21228410	G	T	APOB	c.11330C>A	NM_000384.3	NP_000375.3:p.(Ser3777Ter)	NC_000002.11:g.21228410G>T	(Likely) pathogenic	1 lab	5109c64091
22:26937327 TPST2 C>A	22	26937327	26937327	C	A	TPST2	c.270G>T	NM_001008566.3	NP_001008566.1:p.(Ala90=)	NC_000022.10:g.26937327C>A	(Likely) benign	1 lab	510bc09f99
5:89938709 ADGRV1 A>AG	5	89938709	89938714	A	AG	ADGRV1	c.2409dup	NM_032119.4	NP_115495.3:p.(Ser804ValfsTer4)	NC_000005.9:g.89938714dup	(Likely) pathogenic	1 lab	510bdda68e
15:99328492 IGF1R Ref too long to show for this DEL>A	15	99328492	99428656	Ref too long to show for this DEL	A	IGF1R	c.640+77157_641-5898del	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99328493_99428656del	VUS	1 lab	510e44b3b2
19:11227560 LDLR G>T	19	11227560	11227560	G	T	LDLR	c.1731G>T	NM_000527.5	NP_000518.1:p.(Trp577Cys)	NC_000019.9:g.11227560G>T	(Likely) pathogenic	1 lab	5115de9f41
17:6376098 PITPNM3 G>A	17	6376098	6376098	G	A	PITPNM3	c.1308C>T	NM_031220.4	NP_112497.2:p.(Cys436=)	NC_000017.10:g.6376098G>A	(Likely) benign	1 lab	511cffe0c0
14:104685586 MISSING Ref too long to show for this DEL>A	14	104685586	106361528	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.104685587_106361528del	(Likely) pathogenic	1 lab	511d517752
5:82835304 VCAN A>G	5	82835304	82835304	A	G	VCAN	c.6482A>G	NM_004385.5	NP_004376.2:p.(Lys2161Arg)	NC_000005.9:g.82835304A>G	(Likely) benign	1 lab	511d71bc64
9:107595038 ABCA1 G>C	9	107595038	107595038	G	C	ABCA1	c.1326C>G	NM_005502.4	NP_005493.2:p.(Ser442Arg)	NC_000009.11:g.107595038G>C	VUS	1 lab	511f90bd79
12:125299636 SCARB1 G>A	12	125299636	125299636	G	A	SCARB1	c.309C>T	NM_001367981.1	NP_001354910.1:p.(Ile103=)	NC_000012.11:g.125299636G>A	(Likely) benign	1 lab	51267a5eb3
16:29432269 MISSING Ref too long to show for this DEL>A	16	29432269	30370168	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29432270_30370168del	(Likely) pathogenic	1 lab	5129b772f2
3:195507126 MUC4 C>G	3	195507126	195507126	C	G	MUC4	c.11325G>C	NM_018406.7	NP_060876.5:p.(Thr3775=)	NC_000003.11:g.195507126C>G	(Likely) benign	1 lab	512a9229f5
12:125294721 SCARB1 G>A	12	125294721	125294721	G	A	SCARB1	c.841C>T	NM_001367981.1	NP_001354910.1:p.(Arg281Ter)	NC_000012.11:g.125294721G>A	VUS	1 lab	512bebeb5e
14:58920143 KIAA0586 CCTCACTAA>C	14	58920143	58920153	CCTCACTAA	C	KIAA0586	c.1208_1215del	NM_001329944.2	NP_001316873.1:p.(Ser403Ter)	NC_000014.8:g.58920146_58920153del	(Likely) pathogenic	1 lab	512de4b69b
11:17526254 USH1C G>GA	11	17526254	17526266	G	GA	USH1C	c.2134-11dup	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17526266dup	(Likely) benign	1 lab	51319694bf
3:38622539 SCN5A G>A	3	38622539	38622539	G	A	SCN5A	c.3111C>T	NM_198056.3	NP_932173.1:p.(Gly1037=)	NC_000003.11:g.38622539G>A	(Likely) benign	1 lab	5131d75e63
12:125267209 SCARB1 C>T	12	125267209	125267209	C	T	SCARB1	c.1530+20G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125267209C>T	(Likely) benign	1 lab	51331c06b8
3:108102580 MYH15 T>TAAAA	3	108102580	108102585	T	TAAAA	MYH15	c.5692-8_5692-5dup	NM_014981.2	NP_055796.1:p.?	NC_000003.11:g.108102582_108102585dup	(Likely) benign	1 lab	513594f63c
15:57567391 MISSING A>Alt too long to show for this DUP	15	57567391	57977019	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.57567392_57977019dup	VUS	1 lab	513b3a1bfe
2:21225006 APOB A>T	2	21225006	21225006	A	T	APOB	c.13288T>A	NM_000384.3	NP_000375.3:p.(Ser4430Thr)	NC_000002.11:g.21225006A>T	(Likely) benign	1 lab	513d585003
9:107591180 ABCA1 G>A	9	107591180	107591180	G	A	ABCA1	c.2115+17C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591180G>A	(Likely) benign	1 lab	5140bb3161
10:91007781 LIPA C>G	10	91007781	91007781	C	G	LIPA	c.-1-375G>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007781C>G	(Likely) benign	1 lab	51419443fb
2:189943847 COL5A2 A>G	2	189943847	189943847	A	G	COL5A2	c.961-14T>C	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189943847A>G	(Likely) benign	1 lab	514522dec5
2:74605231 DCTN1 C>T	2	74605231	74605231	C	T	DCTN1	c.175G>A	NM_004082.5	NP_004073.2:p.(Gly59Ser)	NC_000002.11:g.74605231C>T	(Likely) pathogenic	1 lab	5145fdddd5
14:76447041 TGFB3 G>A	14	76447041	76447041	G	A	TGFB3	c.196C>T	NM_003239.5	NP_003230.1:p.(Pro66Ser)	NC_000014.8:g.76447041G>A	VUS	1 lab	514639766d
2:179414112 TTN A>G	2	179414112	179414112	A	G	TTN	c.92241T>C	NM_001267550.2	NP_001254479.2:p.(Gly30747=)	NC_000002.11:g.179414112A>G	(Likely) benign	1 lab	51472b0e63
2:179477885 TTN T>A	2	179477885	179477885	T	A	TTN	c.49648+3A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179477885T>A	(Likely) pathogenic	1 lab	514784f7b3
11:46338977 CREB3L1 C>T	11	46338977	46338977	C	T	CREB3L1	c.1197C>T	NM_052854.4	NP_443086.1:p.(Ser399=)	NC_000011.9:g.46338977C>T	(Likely) benign	1 lab	5147e1b51b
2:74789300 M1AP C>Alt too long to show for this DUP	2	74789300	74816877	C	Alt too long to show for this DUP	M1AP	c.596-7903_1281+43dup	NM_001321739.2	NP_001308668.1:p.?	NC_000002.11:g.74789301_74816877dup	VUS	1 lab	514b478ba3
10:73567365 CDH23 T>G	10	73567365	73567365	T	G	CDH23	c.8401T>G	NM_022124.6	NP_071407.4:p.(Phe2801Val)	NC_000010.10:g.73567365T>G	(Likely) benign	1 lab	514b5762da
2:158207262 MISSING G>Alt too long to show for this DUP	2	158207262	158458578	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.158207263_158458578dup	VUS	1 lab	514c912da3
4:100528409 MTTP T>C	4	100528409	100528409	T	C	MTTP	c.1557+292T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528409T>C	(Likely) benign	1 lab	51530b1086
X:119678048 CUL4B T>C	X	119678048	119678048	T	C	CUL4B	c.1148A>G	NM_003588.4	NP_003579.3:p.(Asp383Gly)	NC_000023.10:g.119678048T>C	(Likely) benign	1 lab	515b9d54d9
1:216419944 USH2A C>T	1	216419944	216419944	C	T	USH2A	c.2792G>A	NM_206933.4	NP_996816.3:p.(Cys931Tyr)	NC_000001.10:g.216419944C>T	VUS	1 lab	515c71163d
17:16757561 MISSING Ref too long to show for this DEL>G	17	16757561	20383626	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.16757564_20383626del	(Likely) pathogenic	1 lab	515c7e3d77
12:110230453 TRPV4 G>A	12	110230453	110230453	G	A	TRPV4	c.1824+4C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110230453G>A	(Likely) benign	1 lab	516059d459
2:179427230 TTN G>A	2	179427230	179427230	G	A	TTN	c.83629C>T	NM_001267550.2	NP_001254479.2:p.(Arg27877Cys)	NC_000002.11:g.179427230G>A	VUS	1 lab	516746131f
10:88469688 LDB3 C>A	10	88469688	88469688	C	A	LDB3	c.1127C>A	NM_001171610.2	NP_001165081.1:p.(Ala376Glu)	NC_000010.10:g.88469688C>A	VUS	1 lab	516d03dd61
14:20937711 PNP G>A	14	20937711	20937711	G	A	PNP	c.11+17G>A	NM_000270.4	NP_000261.2:p.?	NC_000014.8:g.20937711G>A	(Likely) benign	1 lab	516d623d77
3:38743420 SCN10A A>G	3	38743420	38743420	A	G	SCN10A	c.4567T>C	NM_006514.4	NP_006505.4:p.(Cys1523Arg)	NC_000003.11:g.38743420A>G	VUS	1 lab	516deb2cac
12:18644419 PIK3C2G A>Alt too long to show for this DUP	12	18644419	18723965	A	Alt too long to show for this DUP	PIK3C2G	c.2721_4011+3974dup	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18644420_18723965dup	(Likely) pathogenic	1 lab	5176f36108
9:107576408 ABCA1 T>A	9	107576408	107576408	T	A	ABCA1	c.3892A>T	NM_005502.4	NP_005493.2:p.(Ile1298Leu)	NC_000009.11:g.107576408T>A	(Likely) benign	1 lab	517a875285
3:63982041 ATXN7 A>G	3	63982041	63982041	A	G	ATXN7	c.2543A>G	NM_000333.4	NP_000324.1:p.(Asn848Ser)	NC_000003.11:g.63982041A>G	(Likely) benign	1 lab	517e1ca6b5
5:75003659 POC5 T>C	5	75003659	75003659	T	C	POC5	c.126A>G	NM_001099271.2	NP_001092741.1:p.(Pro42=)	NC_000005.9:g.75003659T>C	(Likely) benign	1 lab	517e2981df
15:66727595 MAP2K1 C>T	15	66727595	66727595	C	T	MAP2K1	c.291+20C>T	NM_002755.4	NP_002746.1:p.?	NC_000015.9:g.66727595C>T	(Likely) benign	1 lab	517e8945ce
15:85401704 ALPK3 C>T	15	85401704	85401704	C	T	ALPK3	c.3735C>T	NM_020778.5	NP_065829.4:p.(Gly1245=)	NC_000015.9:g.85401704C>T	(Likely) benign	1 lab	51859cd723
15:22740572 MISSING Ref too long to show for this DEL>C	15	22740572	23398578	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22740573_23398578del	(Likely) pathogenic	1 lab	51884fb53c
18:77477863 CTDP1 T>C	18	77477863	77477863	T	C	CTDP1	c.2264T>C	NM_004715.5	NP_004706.3:p.(Leu755Ser)	NC_000018.9:g.77477863T>C	VUS	1 lab	518b5177ba
10:615295 MISSING A>Alt too long to show for this DUP	10	615295	1435228	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.615297_1435228dup	VUS	1 lab	518db5bab8
6:46119668 MISSING Ref too long to show for this DEL>C	6	46119668	46158846	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.46119669_46158846del	VUS	1 lab	5194aa5ce7
1:3753920 CEP104 ATAGT>A	1	3753920	3753927	ATAGT	A	CEP104	c.1051_1054del	NM_014704.4	NP_055519.1:p.(Thr351PhefsTer8)	NC_000001.10:g.3753924_3753927del	(Likely) pathogenic	1 lab	519815c26d
21:30318221 LTN1 G>A	21	30318221	30318221	G	A	LTN1	c.3676C>T	NM_015565.3	NP_056380.3:p.(Arg1226Trp)	NC_000021.8:g.30318221G>A	VUS	1 lab	519886e57c
X:31838158 DMD G>A	X	31838158	31838158	G	A	DMD	c.7243C>T	NM_004006.3	NP_003997.2:p.(Arg2415Cys)	NC_000023.10:g.31838158G>A	(Likely) benign	1 lab	5199188e1e
2:210824431 UNC80 G>C	2	210824431	210824431	G	C	UNC80	c.7607G>C	NM_032504.2	NP_115893.1:p.(Arg2536Thr)	NC_000002.11:g.210824431G>C	(Likely) pathogenic	1 lab	519efc618b
2:179474123 TTN T>C	2	179474123	179474123	T	C	TTN	c.51914A>G	NM_001267550.2	NP_001254479.2:p.(Lys17305Arg)	NC_000002.11:g.179474123T>C	VUS	1 lab	51a1119e90
12:4627958 FERRY3 TTTC>T	12	4627958	4627965	TTTC	T	FERRY3	c.814_816del	NM_020374.4	NP_065107.1:p.(Glu272del)	NC_000012.11:g.4627963_4627965del	VUS	1 lab	51a58c43c3
14:23873004 MYH6 C>T	14	23873004	23873004	C	T	MYH6	c.736-17G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873004C>T	(Likely) benign	1 lab	51a9acc79c
17:57322928 GDPD1 A>T	17	57322928	57322928	A	T	GDPD1	c.321+18A>T	NM_182569.4	NP_872375.2:p.?	NC_000017.10:g.57322928A>T	(Likely) benign	1 lab	51b0a048ba
7:150643945 KCNH2 G>GA	7	150643945	150643947	G	GA	KCNH2	c.3330+19dup	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150643947dup	(Likely) benign	1 lab	51b52bc042
17:38792665 SMARCE1 G>A	17	38792665	38792665	G	A	SMARCE1	c.351C>T	NM_003079.5	NP_003070.3:p.(Asn117=)	NC_000017.10:g.38792665G>A	(Likely) benign	1 lab	51c0193cc0
20:60738620 SS18L1 C>T	20	60738620	60738620	C	T	SS18L1	c.270C>T	NM_001301778.2	NP_001288707.1:p.(Ser90=)	NC_000020.10:g.60738620C>T	(Likely) benign	1 lab	51c63ddfb7
11:116660827 APOA5 C>A	11	116660827	116660827	C	A	APOA5	c.*17G>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660827C>A	(Likely) benign	1 lab	51c8a99b57
4:106291994 PPA2 C>T	4	106291994	106291994	C	T	PPA2	c.976G>A	NM_176869.3	NP_789845.1:p.(Glu326Lys)	NC_000004.11:g.106291994C>T	VUS	1 lab	51ce99d75f
6:102513718 GRIK2 T>A	6	102513718	102513718	T	A	GRIK2	c.2609T>A	NM_001166247.1	NP_001159719.1:p.(Leu870Ter)	NC_000006.11:g.102513718T>A	VUS	1 lab	51cf05fb43
5:82833391 VCAN A>G	5	82833391	82833391	A	G	VCAN	c.4569A>G	NM_004385.5	NP_004376.2:p.(Thr1523=)	NC_000005.9:g.82833391A>G	(Likely) benign	1 lab	51d6e375c3
2:179301046 PRKRA T>TTAAAGAAATGTGGTTCTCTGGAGAAATATTA	2	179301046	179301047	T	TTAAAGAAATGTGGTTCTCTGGAGAAATATTA	PRKRA	c.577-1_577insTAATATTTCTCCAGAGAACCACATTTCTTTA	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179301046_179301047insTAAAGAAATGTGGTTCTCTGGAGAAATATTA	(Likely) benign	1 lab	51d9866cdb
14:23858646 MYH6 G>C	14	23858646	23858646	G	C	MYH6	c.3934C>G	NM_002471.4	NP_002462.2:p.(Gln1312Glu)	NC_000014.8:g.23858646G>C	VUS	1 lab	51e042bd75
8:19809404 LPL C>T	8	19809404	19809404	C	T	LPL	c.374C>T	NM_000237.3	NP_000228.1:p.(Ala125Val)	NC_000008.10:g.19809404C>T	VUS	1 lab	51e669df3e
6:7583887 DSP CA>C	6	7583887	7583888	CA	C	DSP	c.6393del	NM_004415.4	NP_004406.2:p.(Gly2133ValfsTer2)	NC_000006.11:g.7583888del	(Likely) pathogenic	1 lab	51f4af25d5
14:21780583 RPGRIP1 C>A	14	21780583	21780583	C	A	RPGRIP1	c.1078-9C>A	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21780583C>A	(Likely) benign	1 lab	51f4b04b1b
11:47357554 MYBPC3 T>TG	11	47357554	47357560	T	TG	MYBPC3	c.2610dup	NM_000256.3	NP_000247.2:p.(Ser871GlnfsTer13)	NC_000011.9:g.47357560dup	(Likely) pathogenic	1 lab	51f5ab8855
2:219677277 CYP27A1 A>C	2	219677277	219677277	A	C	CYP27A1	c.649A>C	NM_000784.4	NP_000775.1:p.(Ile217Leu)	NC_000002.11:g.219677277A>C	VUS	1 lab	51fbe6787c
10:112572382 RBM20 C>A	10	112572382	112572382	C	A	RBM20	c.2227C>A	NM_001134363.3	NP_001127835.2:p.(Pro743Thr)	NC_000010.10:g.112572382C>A	VUS	1 lab	51fd91c068
11:102031070 MISSING Ref too long to show for this DEL>G	11	102031070	102208404	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.102031071_102208404del	(Likely) pathogenic	1 lab	5202a506f2
19:50920080 POLD1 GT>G	19	50920080	50920081	GT	G	POLD1	c.3067+101del	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50920081del	(Likely) benign	1 lab	5202cc1740
17:10552930 MYH3 A>ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGG	17	10552930	10552931	A	ATGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGG	MYH3	c.605_606insCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA	NM_002470.4	NP_002461.2:p.(Gly203ProfsTer15)	NC_000017.10:g.10552930_10552931insTGCTTGATCTCGTAACAGAACTCCTGCTGGCAAGAAGGGAGTGTTAGGGCTGATGCCTGGGCCTGGGCCTCCGCCGGGGGCCAGGAGGG	(Likely) benign	1 lab	520636d8e7
1:3350369 PRDM16 C>T	1	3350369	3350369	C	T	PRDM16	c.3825C>T	NM_022114.4	NP_071397.3:p.(His1275=)	NC_000001.10:g.3350369C>T	(Likely) benign	1 lab	520721bcf9
11:47356947 MYBPC3 T>C	11	47356947	47356947	T	C	MYBPC3	c.2738-187A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356947T>C	(Likely) benign	1 lab	5208e4226f
18:47091750 LIPG G>A	18	47091750	47091750	G	A	LIPG	c.161G>A	NM_006033.4	NP_006024.1:p.(Arg54His)	NC_000018.9:g.47091750G>A	VUS	1 lab	520a631f37
7:154681159 DPP6 TTG>T	7	154681159	154681161	TTG	T	DPP6	c.2378-7_2378-6del	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154681160_154681161del	(Likely) benign	1 lab	520caf3dab
19:11213531 LDLR C>T	19	11213531	11213531	C	T	LDLR	c.313+69C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213531C>T	(Likely) benign	1 lab	520f4e64ee
18:72775182 ZNF407 C>T	18	72775182	72775182	C	T	ZNF407	c.5505C>T	NM_017757.3	NP_060227.2:p.(Thr1835=)	NC_000018.9:g.72775182C>T	(Likely) benign	1 lab	521114ba67
22:46931077 CELSR1 G>C	22	46931077	46931077	G	C	CELSR1	c.1991C>G	NM_001378328.1	NP_001365257.1:p.(Ser664Trp)	NC_000022.10:g.46931077G>C	(Likely) benign	1 lab	5213a426e7
22:29885282 NEFH G>A	22	29885282	29885282	G	A	NEFH	c.1653G>A	NM_021076.4	NP_066554.2:p.(Lys551=)	NC_000022.10:g.29885282G>A	(Likely) benign	1 lab	521888c5ae
1:55509598 PCSK9 G>A	1	55509598	55509598	G	A	PCSK9	c.290G>A	NM_174936.4	NP_777596.2:p.(Arg97His)	NC_000001.10:g.55509598G>A	VUS	1 lab	521abbcbf1
2:33646245 MISSING T>Alt too long to show for this DUP	2	33646245	33678331	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.33646246_33678331dup	VUS	1 lab	52249c96e3
13:37583382 EXOSC8 CAAAG>C	13	37583382	37583388	CAAAG	C	EXOSC8	c.780_783del	NM_181503.3	NP_852480.1:p.(Glu261LeufsTer4)	NC_000013.10:g.37583385_37583388del	(Likely) pathogenic	1 lab	5227f52203
15:72767052 ARIH1 CGAG>C	15	72767052	72767066	CGAG	C	ARIH1	c.84_86del	NM_005744.5	NP_005735.2:p.(Glu28del)	NC_000015.9:g.72767064_72767066del	(Likely) benign	1 lab	522b0b3c55
10:16870883 CUBN C>T	10	16870883	16870883	C	T	CUBN	c.10685G>A	NM_001081.4	NP_001072.2:p.(Gly3562Glu)	NC_000010.10:g.16870883C>T	VUS	1 lab	522bbba1c9
2:1983328 MYT1L T>G	2	1983328	1983328	T	G	MYT1L	c.56-2A>C	NM_001329851.3	NP_001316780.1:p.?	NC_000002.11:g.1983328T>G	(Likely) pathogenic	1 lab	52326c35cd
7:16460825 CRPPA C>G	7	16460825	16460825	C	G	CRPPA	c.123G>C	NM_001101426.4	NP_001094896.1:p.(Gly41=)	NC_000007.13:g.16460825C>G	(Likely) benign	1 lab	5237f98a31
5:127644623 FBN2 T>C	5	127644623	127644623	T	C	FBN2	c.5353+316A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127644623T>C	(Likely) benign	1 lab	523ab9e1be
2:179432103 TTN A>G	2	179432103	179432103	A	G	TTN	c.71052T>C	NM_133378.4	NP_596869.4:p.(Ile23684=)	NC_000002.11:g.179432103A>G	(Likely) benign	1 lab	523c95a503
1:156107455 LMNA T>TG	1	156107455	156107456	T	TG	LMNA	c.1620dup	NM_170707.4	NP_733821.1:p.(Arg541AlafsTer11)	NC_000001.10:g.156107456dup	(Likely) pathogenic	1 lab	524343cdd3
11:116701991 APOC3 CTTTCTTTCCT>C	11	116701991	116702003	CTTTCTTTCCT	C	APOC3	c.179+382_179+391del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701994_116702003del	(Likely) benign	1 lab	5243f5f581
16:90001939 TUBB3 C>T	16	90001939	90001939	C	T	TUBB3	c.864C>T	NM_001197181.2	NP_001184110.1:p.(Gly288=)	NC_000016.9:g.90001939C>T	(Likely) benign	1 lab	52470509b8
X:70444135 GJB1 T>G	X	70444135	70444135	T	G	GJB1	c.578T>G	NM_000166.6	NP_000157.1:p.(Phe193Cys)	NC_000023.10:g.70444135T>G	(Likely) pathogenic	1 lab	524a3fb458
3:38675159 SCN5A C>A	3	38675159	38675159	C	A	SCN5A	c.-52-309G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38675159C>A	(Likely) benign	1 lab	524c5188b2
22:22997800 MISSING Ref too long to show for this DEL>A	22	22997800	23649140	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.22997802_23649140del	(Likely) pathogenic	1 lab	524e352471
9:35738861 GBA2 T>C	9	35738861	35738861	T	C	GBA2	c.1835A>G	NM_020944.3	NP_065995.1:p.(His612Arg)	NC_000009.11:g.35738861T>C	(Likely) pathogenic	1 lab	5255eb064c
4:100534106 MTTP G>A	4	100534106	100534106	G	A	MTTP	c.2026G>A	NM_000253.4	NP_000244.2:p.(Ala676Thr)	NC_000004.11:g.100534106G>A	VUS	1 lab	52587682d2
1:55522612 PCSK9 CT>C	1	55522612	55522613	CT	C	PCSK9	c.997-391del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522613del	(Likely) benign	1 lab	525db93560
11:118960702 HMBS G>A	11	118960702	118960702	G	A	HMBS	c.347G>A	NM_000190.4	NP_000181.2:p.(Arg116Gln)	NC_000011.9:g.118960702G>A	VUS	1 lab	5267dff8df
4:55139704 PDGFRA A>G	4	55139704	55139704	A	G	PDGFRA	c.1365A>G	NM_006206.6	NP_006197.1:p.(Lys455=)	NC_000004.11:g.55139704A>G	(Likely) benign	1 lab	526b77b7aa
17:17698514 RAI1 TG>T	17	17698514	17698519	TG	T	RAI1	c.2257del	NM_030665.4	NP_109590.3:p.(Asp753MetfsTer66)	NC_000017.10:g.17698519del	(Likely) pathogenic	1 lab	526f536a19
7:100858447 PLOD3 G>A	7	100858447	100858447	G	A	PLOD3	c.616-14C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100858447G>A	(Likely) benign	1 lab	5282f3f4e0
9:107554521 ABCA1 T>C	9	107554521	107554521	T	C	ABCA1	c.5758-242A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107554521T>C	(Likely) benign	1 lab	528344092d
16:46766355 MYLK3 G>A	16	46766355	46766355	G	A	MYLK3	c.1227C>T	NM_182493.3	NP_872299.2:p.(Pro409=)	NC_000016.9:g.46766355G>A	(Likely) benign	1 lab	528ed544bb
19:45451745 APOC2 C>T	19	45451745	45451745	C	T	APOC2	c.10C>T	NM_000483.5	NP_000474.2:p.(Arg4Ter)	NC_000019.9:g.45451745C>T	(Likely) pathogenic	1 lab	528fde9e02
7:128484274 FLNC G>T	7	128484274	128484274	G	T	FLNC	c.3146G>T	NM_001458.5	NP_001449.3:p.(Gly1049Val)	NC_000007.13:g.128484274G>T	VUS	1 lab	5292a5a6ea
17:2233893 TSR1 G>T	17	2233893	2233893	G	T	TSR1	c.1686C>A	NM_018128.5	NP_060598.3:p.(Val562=)	NC_000017.10:g.2233893G>T	(Likely) benign	1 lab	52986fc5c3
22:24911291 UPB1 C>T	22	24911291	24911291	C	T	UPB1	c.744C>T	NM_016327.3	NP_057411.1:p.(Asn248=)	NC_000022.10:g.24911291C>T	(Likely) benign	1 lab	52a5513f70
13:32972460 BRCA2 C>A	13	32972460	32972460	C	A	BRCA2	c.9810C>A	NM_000059.4	NP_000050.3:p.(Ala3270=)	NC_000013.10:g.32972460C>A	(Likely) benign	1 lab	52a5699359
1:43212431 P3H1 A>T	1	43212431	43212431	A	T	P3H1	c.2148C>A	NM_022356.4	NP_071751.3:p.(Gly716=)	NC_000001.10:g.43212431A>T	(Likely) benign	1 lab	52aa4b6af0
8:59412583 CYP7A1 C>T	8	59412583	59412583	C	T	CYP7A1	c.75G>A	NM_000780.4	NP_000771.2:p.(Arg25=)	NC_000008.10:g.59412583C>T	(Likely) benign	1 lab	52ae4398dd
19:55316438 KIR2DL4 A>T	19	55316438	55316438	A	T	KIR2DL4	c.267A>T	NM_001080772.2	NP_001074241.1:p.(Pro89=)	NC_000019.9:g.55316438A>T	(Likely) benign	1 lab	52b1159cd9
11:65314277 LTBP3 G>C	11	65314277	65314277	G	C	LTBP3	c.2222C>G	NM_001130144.3	NP_001123616.1:p.(Ala741Gly)	NC_000011.9:g.65314277G>C	(Likely) benign	1 lab	52b9d9f179
10:92675329 ANKRD1 A>G	10	92675329	92675329	A	G	ANKRD1	c.820T>C	NM_014391.3	NP_055206.2:p.(Tyr274His)	NC_000010.10:g.92675329A>G	VUS	1 lab	52bafcbc78
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATAT	(Likely) benign	1 lab	52bba405ea
22:50849941 PPP6R2 Ref too long to show for this DEL>G	22	50849941	50865300	Ref too long to show for this DEL	G	PPP6R2	c.415-3037_1125+3257del	NM_001242898.2	NP_001229827.1:p.?	NC_000022.10:g.50849944_50865300del	VUS	1 lab	52bc645ab5
2:44041659 ABCG5 C>A	2	44041659	44041659	C	A	ABCG5	c.1719G>T	NM_022436.3	NP_071881.1:p.(Glu573Asp)	NC_000002.11:g.44041659C>A	VUS	1 lab	52c174e36a
22:50895022 SBF1 C>T	22	50895022	50895022	C	T	SBF1	c.3985G>A	NM_002972.4	NP_002963.2:p.(Ala1329Thr)	NC_000022.10:g.50895022C>T	VUS	1 lab	52c30095d4
5:127693226 FBN2 G>C	5	127693226	127693226	G	C	FBN2	c.2555-139C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127693226G>C	(Likely) benign	1 lab	52c756dda4
2:219647056 CYP27A1 C>T	2	219647056	219647056	C	T	CYP27A1	c.151C>T	NM_000784.4	NP_000775.1:p.(Arg51Trp)	NC_000002.11:g.219647056C>T	VUS	1 lab	52c95aec28
2:21225510 APOB G>A	2	21225510	21225510	G	A	APOB	c.12784C>T	NM_000384.3	NP_000375.3:p.(Leu4262=)	NC_000002.11:g.21225510G>A	(Likely) benign	1 lab	52cb8469ca
15:35082624 ACTC1 T>G	15	35082624	35082624	T	G	ACTC1	c.1123A>C	NM_005159.5	NP_005150.1:p.(Lys375Gln)	NC_000015.9:g.35082624T>G	VUS	1 lab	52ce0d5a75
2:179614554 TTN T>C	2	179614554	179614554	T	C	TTN	c.12573A>G	NM_133379.5	NP_596870.2:p.(Thr4191=)	NC_000002.11:g.179614554T>C	(Likely) benign	1 lab	52ce57d5c0
5:7878424 MTRR T>A	5	7878424	7878424	T	A	MTRR	c.769T>A	NM_002454.3	NP_002445.2:p.(Ser257Thr)	NC_000005.9:g.7878424T>A	(Likely) benign	1 lab	54866958f4
2:179439527 TTN C>T	2	179439527	179439527	C	T	TTN	c.71332G>A	NM_001267550.2	NP_001254479.2:p.(Ala23778Thr)	NC_000002.11:g.179439527C>T	VUS	1 lab	52d0893b4c
3:37778482 ITGA9 G>C	3	37778482	37778482	G	C	ITGA9	c.2234+8G>C	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37778482G>C	(Likely) benign	1 lab	52d4bfedf3
8:68107834 CSPP1 A>G	8	68107834	68107834	A	G	CSPP1	c.*6A>G	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68107834A>G	(Likely) benign	1 lab	52d7a35442
19:10260325 DNMT1 G>C	19	10260325	10260325	G	C	DNMT1	c.2390C>G	NM_001130823.3	NP_001124295.1:p.(Ala797Gly)	NC_000019.9:g.10260325G>C	VUS	1 lab	52d9c83e08
10:53227579 PRKG1 G>A	10	53227579	53227579	G	A	PRKG1	c.530G>A	NM_001098512.3	NP_001091982.1:p.(Arg177Gln)	NC_000010.10:g.53227579G>A	(Likely) pathogenic	1 lab	52db714b43
4:114195742 ANK2 G>A	4	114195742	114195742	G	A	ANK2	c.1671G>A	NM_001386174.1	NP_001373103.1:p.(Glu557=)	NC_000004.11:g.114195742G>A	(Likely) benign	1 lab	52de21ef05
16:23649221 PALB2 T>C	16	23649221	23649221	T	C	PALB2	c.161A>G	NM_024675.4	NP_078951.2:p.(Glu54Gly)	NC_000016.9:g.23649221T>C	(Likely) benign	1 lab	52dec12d05
11:44148448 EXT2 C>T	11	44148448	44148448	C	T	EXT2	c.1121C>T	NM_000401.3	NP_000392.3:p.(Pro374Leu)	NC_000011.9:g.44148448C>T	VUS	1 lab	52df36e472
2:241658409 KIF1A G>A	2	241658409	241658409	G	A	KIF1A	c.5214+14C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241658409G>A	(Likely) benign	1 lab	52e58ca4c0
1:48240276 TRABD2B Ref too long to show for this DEL>C	1	48240276	48322470	Ref too long to show for this DEL	C	TRABD2B	c.667-55179_1349+565del	NM_001194986.2	NP_001181915.1:p.?	NC_000001.10:g.48240277_48322470del	VUS	1 lab	52e625957b
17:40469180 STAT3 G>A	17	40469180	40469180	G	A	STAT3	c.2144+20C>T	NM_139276.3	NP_644805.1:p.?	NC_000017.10:g.40469180G>A	(Likely) benign	1 lab	52f1cfc2cd
1:236883150 ACTN2 G>A	1	236883150	236883150	G	A	ACTN2	c.362-255G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236883150G>A	(Likely) benign	1 lab	52f6ad28f9
1:83976543 MISSING Ref too long to show for this DEL>T	1	83976543	84172822	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.83976544_84172822del	VUS	1 lab	52f860d6a8
16:3551107 CLUAP1 C>G	16	3551107	3551107	C	G	CLUAP1	c.22+18C>G	NM_015041.3	NP_055856.1:p.?	NC_000016.9:g.3551107C>G	(Likely) benign	1 lab	52f9e65d6d
1:237897049 RYR2 T>C	1	237897049	237897049	T	C	RYR2	c.11084T>C	NM_001035.3	NP_001026.2:p.(Met3695Thr)	NC_000001.10:g.237897049T>C	VUS	1 lab	52fa7749dd
2:179641070 TTN G>C	2	179641070	179641070	G	C	TTN	c.5521C>G	NM_001267550.2	NP_001254479.2:p.(Pro1841Ala)	NC_000002.11:g.179641070G>C	VUS	1 lab	52fc5c1041
16:88495748 ZNF469 C>T	16	88495748	88495748	C	T	ZNF469	c.1870C>T	NM_001367624.2	NP_001354553.1:p.(Gln624Ter)	NC_000016.9:g.88495748C>T	(Likely) pathogenic	1 lab	52fe301bfb
9:101068525 GABBR2 A>C	9	101068525	101068525	A	C	GABBR2	c.2107T>G	NM_005458.8	NP_005449.5:p.(Cys703Gly)	NC_000009.11:g.101068525A>C	(Likely) pathogenic	1 lab	5303c81544
15:85360271 ALPK3 A>G	15	85360271	85360271	A	G	ALPK3				NC_000015.9:g.85360271A>G	(Likely) benign	1 lab	5306d3b71f
1:55521103 PCSK9 G>T	1	55521103	55521103	G	T	PCSK9	c.800-563G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521103G>T	(Likely) benign	1 lab	53088d41ae
1:25880462 LDLRAP1 G>A	1	25880462	25880462	G	A	LDLRAP1	c.138G>A	NM_015627.3	NP_056442.2:p.(Met46Ile)	NC_000001.10:g.25880462G>A	VUS	1 lab	530e11c870
17:39928108 JUP G>A	17	39928108	39928108	G	A	JUP	c.-2C>T	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39928108G>A	(Likely) benign	1 lab	53138b7b74
12:21375306 SLCO1B1 GAAA>G	12	21375306	21375332	GAAA	G	SLCO1B1	c.1747+32_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375330_21375332del	(Likely) benign	1 lab	5313d2160f
10:81926702 ANXA11 G>A	10	81926702	81926702	G	A	ANXA11	c.589C>T	NM_001278409.2	NP_001265338.1:p.(Arg197Cys)	NC_000010.10:g.81926702G>A	(Likely) benign	1 lab	5314d1516c
12:21713361 GYS2 G>A	12	21713361	21713361	G	A	GYS2	c.1128C>T	NM_021957.4	NP_068776.2:p.(Asn376=)	NC_000012.11:g.21713361G>A	(Likely) benign	1 lab	53169356a7
7:128483605 FLNC ACTGTCAAGTACACCG>A	7	128483605	128483625	ACTGTCAAGTACACCG	A	FLNC	c.2791_2805del	NM_001458.5	NP_001449.3:p.(Lys931_Val935del)	NC_000007.13:g.128483611_128483625del	(Likely) pathogenic	1 lab	531783a925
2:189860528 COL3A1 C>T	2	189860528	189860528	C	T	COL3A1	c.1608+12C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860528C>T	(Likely) benign	1 lab	5319bb605b
2:179487420 TTN C>T	2	179487420	179487420	C	T	TTN	c.37186G>A	NM_133378.4	NP_596869.4:p.(Glu12396Lys)	NC_000002.11:g.179487420C>T	VUS	1 lab	531bb446ab
5:88100385 MISSING Ref too long to show for this DEL>G	5	88100385	88292377	Ref too long to show for this DEL	G	MISSING				NC_000005.9:g.88100386_88292377del	(Likely) pathogenic	1 lab	531c4e6b21
2:179580285 TTN T>G	2	179580285	179580285	T	G	TTN	c.25856A>C	NM_001267550.2	NP_001254479.2:p.(Asp8619Ala)	NC_000002.11:g.179580285T>G	VUS	1 lab	53209a0f18
2:27587605 EIF2B4 G>C	2	27587605	27587605	G	C	EIF2B4	c.1307C>G	NM_001318966.2	NP_001305895.1:p.(Ala436Gly)	NC_000002.11:g.27587605G>C	(Likely) pathogenic	1 lab	532db19da9
8:19810928 LPL T>A	8	19810928	19810928	T	A	LPL	c.537T>A	NM_000237.3	NP_000228.1:p.(Ile179=)	NC_000008.10:g.19810928T>A	(Likely) benign	1 lab	532e5c25b5
7:146474541 CNTNAP2 Ref too long to show for this DEL>C	7	146474541	146982093	Ref too long to show for this DEL	C	CNTNAP2	c.208+3069_1349-15140del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146474542_146982093del	(Likely) pathogenic	1 lab	53302090ec
7:128486411 FLNC C>T	7	128486411	128486411	C	T	FLNC	c.4021C>T	NM_001458.5	NP_001449.3:p.(Arg1341Ter)	NC_000007.13:g.128486411C>T	(Likely) pathogenic	1 lab	5338ba41f6
X:153694021 PLXNA3 C>T	X	153694021	153694021	C	T	PLXNA3	c.2363C>T	NM_017514.5	NP_059984.3:p.(Ala788Val)	NC_000023.10:g.153694021C>T	VUS	1 lab	533a2f9bd8
17:10267674 MISSING G>Alt too long to show for this DUP	17	10267674	10307982	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.10267676_10307982dup	VUS	1 lab	533c2f078b
6:7585350 DSP A>G	6	7585350	7585350	A	G	DSP	c.7855A>G	NM_004415.4	NP_004406.2:p.(Ile2619Val)	NC_000006.11:g.7585350A>G	VUS	1 lab	533de46266
9:98220519 PTCH1 G>C	9	98220519	98220519	G	C	PTCH1	c.2944C>G	NM_000264.5	NP_000255.2:p.(Arg982Gly)	NC_000009.11:g.98220519G>C	VUS	1 lab	533f9345ed
4:106317498 PPA2 CCAAA>C	4	106317498	106317510	CCAAA	C	PPA2	c.784-11_784-8del	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106317507_106317510del	(Likely) benign	1 lab	5344fb74ca
11:88911360 TYR G>A	11	88911360	88911360	G	A	TYR	c.239G>A	NM_000372.5	NP_000363.1:p.(Trp80Ter)	NC_000011.9:g.88911360G>A	(Likely) pathogenic	1 lab	5345106ee3
3:38597190 SCN5A T>C	3	38597190	38597190	T	C	SCN5A	c.4499A>G	NM_198056.3	NP_932173.1:p.(Lys1500Arg)	NC_000003.11:g.38597190T>C	VUS	1 lab	534896b6ae
X:49071782 CACNA1F G>T	X	49071782	49071782	G	T	CACNA1F	c.3471+20C>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49071782G>T	(Likely) benign	1 lab	534981433a
16:67976378 LCAT G>C	16	67976378	67976378	G	C	LCAT	c.636C>G	NM_000229.2	NP_000220.1:p.(Leu212=)	NC_000016.9:g.67976378G>C	(Likely) benign	1 lab	534ec4d0c4
21:34050939 SYNJ1 TA>T	21	34050939	34050940	TA	T	SYNJ1	c.1627+15del	NM_003895.3	NP_003886.3:p.?	NC_000021.8:g.34050940del	(Likely) benign	1 lab	534ee0327b
16:1020875 LMF1 C>G	16	1020875	1020875	C	G	LMF1	c.106G>C	NM_022773.4	NP_073610.2:p.(Gly36Arg)	NC_000016.9:g.1020875C>G	VUS	1 lab	53538ee810
11:8119242 TUB C>T	11	8119242	8119242	C	T	TUB	c.1051-19C>T	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8119242C>T	(Likely) benign	1 lab	5613d84e6f
2:179404784 TTN A>T	2	179404784	179404784	A	T	TTN	c.98098+11T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179404784A>T	(Likely) benign	1 lab	535e46b590
12:125292325 SCARB1 C>T	12	125292325	125292325	C	T	SCARB1	c.991G>A	NM_001367981.1	NP_001354910.1:p.(Val331Ile)	NC_000012.11:g.125292325C>T	VUS	1 lab	5361d25d75
12:11244378 TAS2R43 C>G	12	11244378	11244378	C	G	TAS2R43	c.451G>C	NM_176884.2	NP_795365.2:p.(Glu151Gln)	NC_000012.11:g.11244378C>G	(Likely) benign	1 lab	53682fb33e
1:216371763 USH2A G>T	1	216371763	216371763	G	T	USH2A	c.3975C>A	NM_206933.4	NP_996816.3:p.(Thr1325=)	NC_000001.10:g.216371763G>T	(Likely) benign	1 lab	536a81dab6
19:11226750 LDLR A>G	19	11226750	11226750	A	G	LDLR	c.1587-20A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226750A>G	(Likely) benign	1 lab	536ae9b929
1:156841548 NTRK1 G>A	1	156841548	156841548	G	A	NTRK1	c.850+1G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156841548G>A	(Likely) pathogenic	1 lab	536b032cf5
X:100494077 DRP2 T>C	X	100494077	100494077	T	C	DRP2	c.546T>C	NM_001939.3	NP_001930.2:p.(His182=)	NC_000023.10:g.100494077T>C	(Likely) benign	1 lab	5370584f0b
5:138283156 SIL1 C>T	5	138283156	138283156	C	T	SIL1	c.1036G>A	NM_001037633.2	NP_001032722.1:p.(Ala346Thr)	NC_000005.9:g.138283156C>T	(Likely) benign	1 lab	5378eba997
12:22059069 ABCC9 A>T	12	22059069	22059069	A	T	ABCC9	c.1609T>A	NM_020297.4	NP_064693.2:p.(Ser537Thr)	NC_000012.11:g.22059069A>T	VUS	1 lab	5379239fae
6:112476061 LAMA4 G>A	6	112476061	112476061	G	A	LAMA4	c.2027C>T	NM_002290.5	NP_002281.3:p.(Ala676Val)	NC_000006.11:g.112476061G>A	VUS	1 lab	53806c1782
14:23863370 MYH6 C>T	14	23863370	23863370	C	T	MYH6	c.2592G>A	NM_002471.4	NP_002462.2:p.(Thr864=)	NC_000014.8:g.23863370C>T	(Likely) benign	1 lab	53813f408e
19:11233653 LDLR AT>A	19	11233653	11233670	AT	A	LDLR	c.2141-180del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233670del	(Likely) benign	1 lab	5688b29864
7:122244358 CADPS2 Ref too long to show for this DEL>C	7	122244358	122247636	Ref too long to show for this DEL	C	CADPS2	c.1223+7599_1223+10876del	NM_017954.11	NP_060424.9:p.?	NC_000007.13:g.122244359_122247636del	VUS	1 lab	53825d48bd
3:38592212 SCN5A G>A	3	38592212	38592212	G	A	SCN5A	c.5651C>T	NM_198056.3	NP_932173.1:p.(Pro1884Leu)	NC_000003.11:g.38592212G>A	VUS	1 lab	5387798530
2:179457953 TTN C>T	2	179457953	179457953	C	T	TTN	c.58982G>A	NM_001267550.2	NP_001254479.2:p.(Gly19661Asp)	NC_000002.11:g.179457953C>T	VUS	1 lab	538cd7e9c7
12:21331569 SLCO1B1 C>T	12	21331569	21331569	C	T	SLCO1B1	c.541C>T	NM_006446.5	NP_006437.3:p.(Arg181Cys)	NC_000012.11:g.21331569C>T	(Likely) benign	1 lab	53912a97ee
18:34261476 FHOD3 G>A	18	34261476	34261476	G	A	FHOD3	c.1913G>A	NM_001281740.3	NP_001268669.1:p.(Arg638Gln)	NC_000018.9:g.34261476G>A	VUS	1 lab	539165f4df
12:32955433 PKP2 G>A	12	32955433	32955433	G	A	PKP2	c.2203C>T	NM_004572.4	NP_004563.2:p.(Arg735Ter)	NC_000012.11:g.32955433G>A	(Likely) pathogenic	1 lab	5395080361
7:128484173 FLNC G>A	7	128484173	128484173	G	A	FLNC	c.3045G>A	NM_001458.5	NP_001449.3:p.(Leu1015=)	NC_000007.13:g.128484173G>A	(Likely) benign	1 lab	5396c9b60d
19:11216013 LDLR C>T	19	11216013	11216013	C	T	LDLR	c.431C>T	NM_000527.5	NP_000518.1:p.(Pro144Leu)	NC_000019.9:g.11216013C>T	(Likely) pathogenic	1 lab	5397f090f6
3:119379186 POPDC2 C>T	3	119379186	119379186	C	T	POPDC2	c.85G>A	NM_001369919.2	NP_001356848.1:p.(Val29Ile)	NC_000003.11:g.119379186C>T	(Likely) benign	1 lab	53a4ace8b4
2:179429910 TTN A>C	2	179429910	179429910	A	C	TTN	c.80949T>G	NM_001267550.2	NP_001254479.2:p.(Asp26983Glu)	NC_000002.11:g.179429910A>C	VUS	1 lab	53a52dd64c
11:6411934 SMPD1 G>GCGC	11	6411934	6411935	G	GCGC	SMPD1	c.106_107insCGC	NM_001318087.2	NP_001305016.1:p.(Val36delinsAlaLeu)	NC_000011.9:g.6411934_6411935insCGC	(Likely) benign	1 lab	53a5bc29e6
5:37227759 CPLANE1 T>C	5	37227759	37227759	T	C	CPLANE1	c.1282A>G	NM_023073.4	NP_075561.3:p.(Ser428Gly)	NC_000005.9:g.37227759T>C	VUS	1 lab	53a723610e
19:13007458 GCDH C>T	19	13007458	13007458	C	T	GCDH	c.852+223C>T	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13007458C>T	(Likely) benign	1 lab	53a7d58cbd
7:150648027 KCNH2 G>A	7	150648027	150648027	G	A	KCNH2	c.2127C>T	NM_000238.4	NP_000229.1:p.(Asn709=)	NC_000007.13:g.150648027G>A	(Likely) benign	1 lab	53aa967978
2:1491666 TPO C>T	2	1491666	1491666	C	T	TPO	c.1671C>T	NM_000547.6	NP_000538.3:p.(Asn557=)	NC_000002.11:g.1491666C>T	(Likely) benign	1 lab	53aab2a9cc
5:1159856 MISSING A>Alt too long to show for this DUP	5	1159856	1318083	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.1159859_1318083dup	VUS	1 lab	53ae32080a
5:14387951 TRIO G>C	5	14387951	14387951	G	C	TRIO	c.3876G>C	NM_007118.4	NP_009049.2:p.(Arg1292Ser)	NC_000005.9:g.14387951G>C	(Likely) pathogenic	1 lab	53ae53b624
19:11216250 LDLR AGGACAAAT>A	19	11216250	11216258	AGGACAAAT	A	LDLR	c.669_676del	NM_000527.5	NP_000518.1:p.(Lys223AsnfsTer2)	NC_000019.9:g.11216251_11216258del	(Likely) pathogenic	1 lab	53b001f237
2:179582478 TTN A>G	2	179582478	179582478	A	G	TTN	c.25123T>C	NM_001267550.2	NP_001254479.2:p.(Phe8375Leu)	NC_000002.11:g.179582478A>G	VUS	1 lab	53c7a78ab1
15:58837983 LIPC G>A	15	58837983	58837983	G	A	LIPC	c.617G>A	NM_000236.3	NP_000227.2:p.(Ser206Asn)	NC_000015.9:g.58837983G>A	VUS	1 lab	53c97454a7
5:37245957 CPLANE1 G>A	5	37245957	37245957	G	A	CPLANE1	c.82-10C>T	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37245957G>A	(Likely) benign	1 lab	53d08f1e44
1:218609452 TGFB2 C>T	1	218609452	218609452	C	T	TGFB2	c.979C>T	NM_001135599.4	NP_001129071.1:p.(Arg327Trp)	NC_000001.10:g.218609452C>T	(Likely) pathogenic	1 lab	53d1ae6120
16:1004038 LMF1 C>T	16	1004038	1004038	C	T	LMF1	c.-52+319G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004038C>T	(Likely) benign	1 lab	53d361f9f0
4:100521835 MTTP T>C	4	100521835	100521835	T	C	MTTP	c.1181T>C	NM_000253.4	NP_000244.2:p.(Leu394Pro)	NC_000004.11:g.100521835T>C	VUS	1 lab	53d3ca1053
16:46781921 MYLK3 C>T	16	46781921	46781921	C	T	MYLK3	c.185G>A	NM_182493.3	NP_872299.2:p.(Arg62Gln)	NC_000016.9:g.46781921C>T	VUS	1 lab	53d6ea9582
11:116662596 APOA5 G>A	11	116662596	116662596	G	A	APOA5	c.-8-12C>T	NM_001166598.2	NP_001160070.1:p.?	NC_000011.9:g.116662596G>A	VUS	1 lab	53db883933
12:64867991 TBK1 CT>C	12	64867991	64868001	CT	C	TBK1	c.541-9del	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64868001del	(Likely) benign	1 lab	53df1e9fc1
16:88497394 ZNF469 T>C	16	88497394	88497394	T	C	ZNF469	c.3516T>C	NM_001367624.2	NP_001354553.1:p.(Arg1172=)	NC_000016.9:g.88497394T>C	(Likely) benign	1 lab	53dfd12444
16:1004660 LMF1 G>A	16	1004660	1004660	G	A	LMF1	c.200C>T	NM_022773.4	NP_073610.2:p.(Ala67Val)	NC_000016.9:g.1004660G>A	VUS	1 lab	53dffaa5cc
7:69402340 AUTS2 Ref too long to show for this DEL>G	7	69402340	69434446	Ref too long to show for this DEL	G	AUTS2	c.522+37857_522+69962del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69402341_69434446del	VUS	1 lab	53e02558b2
1:55523878 PCSK9 G>T	1	55523878	55523878	G	T	PCSK9	c.1350G>T	NM_174936.4	NP_777596.2:p.(Gly450=)	NC_000001.10:g.55523878G>T	(Likely) benign	1 lab	53e09ca250
15:67358558 SMAD3 G>A	15	67358558	67358558	G	A	SMAD3	c.66G>A	NM_005902.4	NP_005893.1:p.(Glu22=)	NC_000015.9:g.67358558G>A	(Likely) benign	1 lab	53e1cf48df
8:1806295 ARHGEF10 AGGGTCCCCAGGTGAGTCCCCAGGT>A	8	1806295	1806352	AGGGTCCCCAGGTGAGTCCCCAGGT	A	ARHGEF10	c.265+48_265+71del	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1806329_1806352del	(Likely) benign	1 lab	53e32e649d
8:134260948 NDRG1 A>G	8	134260948	134260948	A	G	NDRG1	c.755+10T>C	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134260948A>G	(Likely) benign	1 lab	53e5b4f01f
7:154667628 DPP6 A>G	7	154667628	154667628	A	G	DPP6	c.1896A>G	NM_130797.4	NP_570629.2:p.(Pro632=)	NC_000007.13:g.154667628A>G	(Likely) benign	1 lab	53e9909bd8
17:65344746 PSMD12 G>A	17	65344746	65344746	G	A	PSMD12	c.430C>T	NM_002816.5	NP_002807.1:p.(Arg144Ter)	NC_000017.10:g.65344746G>A	(Likely) pathogenic	1 lab	53f0d6a83a
3:38618140 SCN5A C>T	3	38618140	38618140	C	T	SCN5A	c.3511+12G>A	NM_001099404.2	NP_001092874.1:p.?	NC_000003.11:g.38618140C>T	(Likely) benign	1 lab	53f352fd5f
15:56079883 MISSING Ref too long to show for this DEL>C	15	56079883	56223533	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.56079885_56223533del	(Likely) pathogenic	1 lab	540233eb10
1:237982501 RYR2 C>A	1	237982501	237982501	C	A	RYR2	c.14590+9C>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237982501C>A	(Likely) benign	1 lab	5402785fdb
20:32026775 SNTA1 G>C	20	32026775	32026775	G	C	SNTA1	c.368C>G	NM_003098.3	NP_003089.1:p.(Ala123Gly)	NC_000020.10:g.32026775G>C	VUS	1 lab	54039b25e7
11:75282989 SERPINH1 G>A	11	75282989	75282989	G	A	SERPINH1	c.1118G>A	NM_001235.5	NP_001226.2:p.(Arg373His)	NC_000011.9:g.75282989G>A	VUS	1 lab	5403add978
16:57005294 CETP G>T	16	57005294	57005294	G	T	CETP	c.658+1G>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005294G>T	(Likely) pathogenic	1 lab	540653d35c
Y:2650449 MISSING T>Alt too long to show for this DUP	Y	2650449	3183128	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.2650450_3183128dup	(Likely) pathogenic	1 lab	54101daef5
14:105850736 PACS2 C>T	14	105850736	105850736	C	T	PACS2	c.1827C>T	NM_001100913.3	NP_001094383.2:p.(Tyr609=)	NC_000014.8:g.105850736C>T	(Likely) benign	1 lab	5410dc45a1
1:186010251 HMCN1 T>A	1	186010251	186010251	T	A	HMCN1	c.6287T>A	NM_031935.3	NP_114141.2:p.(Ile2096Asn)	NC_000001.10:g.186010251T>A	(Likely) benign	1 lab	5417fcba56
17:75471762 SEPTIN9 G>A	17	75471762	75471762	G	A	SEPTIN9	c.-256G>A	NM_001113495.2	NP_001106967.2:p.?	NC_000017.10:g.75471762G>A	(Likely) benign	1 lab	542231024a
11:99942446 MISSING Ref too long to show for this DEL>G	11	99942446	100391409	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.99942447_100391409del	VUS	1 lab	54225d1a24
19:11200412 LDLR C>T	19	11200412	11200412	C	T	LDLR	c.67+121C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200412C>T	(Likely) benign	1 lab	5422a6856d
22:24133992 SMARCB1 C>T	22	24133992	24133992	C	T	SMARCB1	c.143C>T	NM_003073.5	NP_003064.2:p.(Pro48Leu)	NC_000022.10:g.24133992C>T	(Likely) pathogenic	1 lab	542614b837
17:8526386 MYH10 AC>A	17	8526386	8526388	AC	A	MYH10	c.178del	NM_005964.5	NP_005955.3:p.(Val60TrpfsTer20)	NC_000017.10:g.8526388del	VUS	1 lab	542739f3b2
22:50905818 SBF1 G>A	22	50905818	50905818	G	A	SBF1	c.498C>T	NM_002972.4	NP_002963.2:p.(Asn166=)	NC_000022.10:g.50905818G>A	(Likely) benign	1 lab	5428d52a25
2:44053577 ABCG5 G>A	2	44053577	44053577	G	A	ABCG5	c.718C>T	NM_022436.3	NP_071881.1:p.(Arg240Cys)	NC_000002.11:g.44053577G>A	VUS	1 lab	5428f73e69
19:11224371 LDLR A>G	19	11224371	11224371	A	G	LDLR	c.1519A>G	NM_000527.5	NP_000518.1:p.(Lys507Glu)	NC_000019.9:g.11224371A>G	VUS	1 lab	542adea75c
X:131219930 FRMD7 C>T	X	131219930	131219930	C	T	FRMD7	c.497+18G>A	NM_194277.3	NP_919253.1:p.?	NC_000023.10:g.131219930C>T	(Likely) benign	1 lab	5430fe3bb6
12:5154492 KCNA5 C>G	12	5154492	5154492	C	G	KCNA5	c.1179C>G	NM_002234.4	NP_002225.2:p.(Ala393=)	NC_000012.11:g.5154492C>G	(Likely) benign	1 lab	54337d52aa
1:236914901 ACTN2 C>CTG	1	236914901	236914902	C	CTG	ACTN2	c.1164_1165insTG	NM_001278344.2	NP_001265273.1:p.(Asn389Ter)	NC_000001.10:g.236914901_236914902insTG	VUS	1 lab	543570e6de
11:77297656 MISSING G>Alt too long to show for this DUP	11	77297656	77426298	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.77297657_77426298dup	VUS	1 lab	5437d0e136
X:29379325 IL1RAPL1 Ref too long to show for this DEL>G	X	29379325	29417455	Ref too long to show for this DEL	G	IL1RAPL1	c.363-35049_703+30del	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.29379326_29417455del	(Likely) pathogenic	1 lab	5440354dda
9:133327598 ASS1 C>T	9	133327598	133327598	C	T	ASS1	c.-5-13C>T	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133327598C>T	(Likely) benign	1 lab	5448a8e7ef
9:35707483 TLN1 C>T	9	35707483	35707483	C	T	TLN1	c.4635G>A	NM_006289.4	NP_006280.3:p.(Ala1545=)	NC_000009.11:g.35707483C>T	(Likely) benign	1 lab	5448b2d52e
1:53453683 SCP2 C>T	1	53453683	53453683	C	T	SCP2	c.974-18C>T	NM_002979.5	NP_002970.2:p.?	NC_000001.10:g.53453683C>T	(Likely) benign	1 lab	544a1d29a5
12:57963903 KIF5A CGAG>C	12	57963903	57963912	CGAG	C	KIF5A	c.1258_1260del	NM_004984.4	NP_004975.2:p.(Glu420del)	NC_000012.11:g.57963910_57963912del	VUS	1 lab	544df372a0
10:28906596 WAC T>G	10	28906596	28906596	T	G	WAC	c.1622T>G	NM_100264.3	NP_567822.1:p.(Leu541Ter)	NC_000010.10:g.28906596T>G	(Likely) pathogenic	1 lab	5454a5b42d
1:179876988 TOR1AIP1 C>G	1	179876988	179876988	C	G	TOR1AIP1	c.830C>G	NM_001267578.2	NP_001254507.1:p.(Pro277Arg)	NC_000001.10:g.179876988C>G	(Likely) benign	1 lab	54587fbc04
9:137582918 COL5A1 G>A	9	137582918	137582918	G	A	COL5A1	c.270G>A	NM_000093.5	NP_000084.3:p.(Leu90=)	NC_000009.11:g.137582918G>A	(Likely) benign	1 lab	546009ad14
8:62496499 ASPH C>T	8	62496499	62496499	C	T	ASPH	c.1062+4G>A	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62496499C>T	(Likely) benign	1 lab	5460ca3860
2:114004430 PAX8 C>T	2	114004430	114004430	C	T	PAX8	c.92G>A	NM_003466.4	NP_003457.1:p.(Arg31His)	NC_000002.11:g.114004430C>T	(Likely) pathogenic	1 lab	546469d467
9:137712073 COL5A1 C>T	9	137712073	137712073	C	T	COL5A1	c.4554+4C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137712073C>T	(Likely) benign	1 lab	5464b96795
7:32997411 FKBP9 C>A	7	32997411	32997411	C	A	FKBP9	c.221+5C>A	NM_001284341.2	NP_001271270.1:p.?	NC_000007.13:g.32997411C>A	(Likely) benign	1 lab	5465221602
15:45398525 DUOX2 G>T	15	45398525	45398525	G	T	DUOX2	c.1946C>A	NM_014080.5	NP_054799.4:p.(Ala649Glu)	NC_000015.9:g.45398525G>T	VUS	1 lab	5466835a44
10:54031101 PRKG1 T>G	10	54031101	54031101	T	G	PRKG1	c.1129-9T>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54031101T>G	(Likely) benign	1 lab	5467bb8836
1:171145763 MISSING Ref too long to show for this DEL>C	1	171145763	171202831	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.171145764_171202831del	VUS	1 lab	5468822b5a
3:30664578 TGFBR2 A>G	3	30664578	30664578	A	G	TGFBR2	c.95-113A>G	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30664578A>G	(Likely) benign	1 lab	546ceeab34
6:56484569 DST C>T	6	56484569	56484569	C	T	DST	c.4263G>A	NM_001723.7	NP_001714.1:p.(Lys1421=)	NC_000006.11:g.56484569C>T	(Likely) benign	1 lab	546dd18f4c
1:218607476 TGFB2 A>G	1	218607476	218607476	A	G	TGFB2	c.563A>G	NM_003238.6	NP_003229.1:p.(Lys188Arg)	NC_000001.10:g.218607476A>G	VUS	1 lab	546e439dbc
22:37163421 IFT27 C>T	22	37163421	37163421	C	T	IFT27	c.115-12G>A	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37163421C>T	(Likely) benign	1 lab	546f9f91ec
16:34228465 MISSING Ref too long to show for this DEL>C	16	34228465	34603810	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.34228466_34603810del	VUS	1 lab	54700877f7
10:75871806 VCL T>C	10	75871806	75871806	T	C	VCL	c.2885T>C	NM_014000.3	NP_054706.1:p.(Val962Ala)	NC_000010.10:g.75871806T>C	VUS	1 lab	54707c468f
7:100004394 ZCWPW1 C>T	7	100004394	100004394	C	T	ZCWPW1	c.1099G>A	NM_001386017.1	NP_001372946.1:p.(Glu367Lys)	NC_000007.13:g.100004394C>T	(Likely) benign	1 lab	5471a4f084
22:51125550 SHANK3 Ref too long to show for this DEL>G	22	51125550	51170223	Ref too long to show for this DEL	G	SHANK3	c.1255+2472_*483del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51125551_51170223del	(Likely) pathogenic	1 lab	5472228f4a
19:11226896 LDLR C>T	19	11226896	11226896	C	T	LDLR	c.1705+8C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226896C>T	(Likely) benign	1 lab	54743fbf3d
22:21350029 MISSING Ref too long to show for this DEL>C	22	21350029	21411509	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21350032_21411509del	(Likely) pathogenic	1 lab	547e910302
17:33428330 RAD51D C>T	17	33428330	33428330	C	T	RAD51D	c.793G>A	NM_002878.4	NP_002869.3:p.(Gly265Arg)	NC_000017.10:g.33428330C>T	VUS	1 lab	5480f1d814
5:127648122 FBN2 A>G	5	127648122	127648122	A	G	FBN2	c.4879+204T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127648122A>G	(Likely) benign	1 lab	54923078d6
3:38662595 SCN5A C>T	3	38662595	38662595	C	T	SCN5A	c.483-133G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38662595C>T	(Likely) benign	1 lab	549eee22d6
6:32009351 TNXB C>T	6	32009351	32009351	C	T	TNXB	c.12628-124G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009351C>T	(Likely) benign	1 lab	54aee816bc
22:50671814 TUBGCP6 C>T	22	50671814	50671814	C	T	TUBGCP6	c.1047G>A	NM_020461.4	NP_065194.3:p.(Glu349=)	NC_000022.10:g.50671814C>T	(Likely) benign	1 lab	54afad6691
18:3457607 TGIF1 C>T	18	3457607	3457607	C	T	TGIF1	c.530C>T	NM_173207.4	NP_775299.1:p.(Pro177Leu)	NC_000018.9:g.3457607C>T	(Likely) benign	1 lab	54b36be36e
2:179529648 TTN C>T	2	179529648	179529648	C	T	TTN	c.36049G>A	NM_001267550.2	NP_001254479.2:p.(Glu12017Lys)	NC_000002.11:g.179529648C>T	VUS	1 lab	54b4392db9
7:149957058 MISSING Ref too long to show for this DEL>T	7	149957058	150030024	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.149957059_150030024del	VUS	1 lab	54ba0b9b4d
16:15808944 MYH11 G>A	16	15808944	15808944	G	A	MYH11	c.5614-6C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15808944G>A	(Likely) benign	1 lab	54bfea3521
17:68172424 KCNJ2 C>T	17	68172424	68172424	C	T	KCNJ2	c.1244C>T	NM_000891.3	NP_000882.1:p.(Pro415Leu)	NC_000017.10:g.68172424C>T	VUS	1 lab	54c194fa8b
14:21679658 HNRNPC A>G	14	21679658	21679658	A	G	HNRNPC	c.744T>C	NM_031314.3	NP_112604.2:p.(Asn248=)	NC_000014.8:g.21679658A>G	(Likely) benign	1 lab	54c2401171
1:45444136 EIF2B3 T>C	1	45444136	45444136	T	C	EIF2B3	c.149-4A>G	NM_020365.5	NP_065098.1:p.?	NC_000001.10:g.45444136T>C	(Likely) benign	1 lab	54c70d2410
18:2750459 SMCHD1 T>G	18	2750459	2750459	T	G	SMCHD1	c.4119T>G	NM_015295.3	NP_056110.2:p.(Val1373=)	NC_000018.9:g.2750459T>G	(Likely) benign	1 lab	5ed3783c5a
X:134427905 ZNF75D Ref too long to show for this DEL>G	X	134427905	134462909	Ref too long to show for this DEL	G	ZNF75D	c.-391+12785_161del	NM_007131.5	NP_009062.2:p.?	NC_000023.10:g.134427907_134462909del	VUS	1 lab	54ca9310e9
10:17079549 CUBN Ref too long to show for this DEL>C	10	17079549	17099563	Ref too long to show for this DEL	C	CUBN	c.3139+7944_4017+3482del	NM_001081.4	NP_001072.2:p.?	NC_000010.10:g.17079550_17099563del	VUS	1 lab	54cfe34b15
8:22051701 BMP1 C>T	8	22051701	22051701	C	T	BMP1	c.1297+14C>T	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22051701C>T	(Likely) benign	1 lab	54d4e62193
2:29295741 PCARE C>T	2	29295741	29295741	C	T	PCARE	c.1387G>A	NM_001029883.3	NP_001025054.1:p.(Val463Ile)	NC_000002.11:g.29295741C>T	(Likely) benign	1 lab	54d7435246
22:31335967 MORC2 T>A	22	31335967	31335967	T	A	MORC2	c.780A>T	NM_014941.3	NP_055756.1:p.(Gly260=)	NC_000022.10:g.31335967T>A	(Likely) benign	1 lab	54dc667719
7:151269803 PRKAG2 T>C	7	151269803	151269803	T	C	PRKAG2	c.1006-8A>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151269803T>C	(Likely) benign	1 lab	54dd3615ea
5:110097160 SLC25A46 C>CTTA	5	110097160	110097165	C	CTTA	SLC25A46	c.938_940dup	NM_138773.4	NP_620128.1:p.(Tyr313dup)	NC_000005.9:g.110097163_110097165dup	VUS	1 lab	54e6134436
11:77813997 ALG8 C>CAA	11	77813997	77814015	C	CAA	ALG8	c.1350-5_1350-4dup	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77814014_77814015dup	(Likely) benign	1 lab	54ee297acb
X:153609258 EMD G>A	X	153609258	153609258	G	A	EMD	c.466G>A	NM_000117.3	NP_000108.1:p.(Gly156Ser)	NC_000023.10:g.153609258G>A	(Likely) benign	1 lab	551a0157bb
1:55529028 PCSK9 T>C	1	55529028	55529028	T	C	PCSK9	c.1864-14T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55529028T>C	(Likely) benign	1 lab	54f56c622e
19:7527216 ARHGEF18 C>T	19	7527216	7527216	C	T	ARHGEF18	c.2631C>T	NM_001367823.1	NP_001354752.1:p.(Ser877=)	NC_000019.9:g.7527216C>T	(Likely) benign	1 lab	54f69b8e14
16:29580019 MISSING Ref too long to show for this DEL>T	16	29580019	30177242	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29580022_30177242del	(Likely) pathogenic	1 lab	54fc33de34
2:106002889 FHL2 C>T	2	106002889	106002889	C	T	FHL2	c.85G>A	NM_201555.2	NP_963849.1:p.(Val29Met)	NC_000002.11:g.106002889C>T	(Likely) benign	1 lab	5500405784
10:75857059 VCL C>T	10	75857059	75857059	C	T	VCL	c.1841C>T	NM_003373.4	NP_003364.1:p.(Thr614Met)	NC_000010.10:g.75857059C>T	VUS	1 lab	5500a9755b
1:55505684 PCSK9 C>T	1	55505684	55505684	C	T	PCSK9	c.174C>T	NM_174936.4	NP_777596.2:p.(His58=)	NC_000001.10:g.55505684C>T	(Likely) benign	1 lab	5505e0a22f
5:148421065 SH3TC2 G>A	5	148421065	148421065	G	A	SH3TC2	c.645C>T	NM_024577.4	NP_078853.2:p.(Ser215=)	NC_000005.9:g.148421065G>A	(Likely) benign	1 lab	55065bdd52
X:53586564 HUWE1 Ref too long to show for this DEL>T	X	53586564	53589009	Ref too long to show for this DEL	T	HUWE1	c.7338+63_7737-72del	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53586565_53589009del	VUS	1 lab	5507e06323
5:82837360 VCAN C>T	5	82837360	82837360	C	T	VCAN	c.8538C>T	NM_004385.5	NP_004376.2:p.(Pro2846=)	NC_000005.9:g.82837360C>T	(Likely) benign	1 lab	550b28cb6c
18:47088661 LIPG G>T	18	47088661	47088661	G	T	LIPG	c.-18G>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088661G>T	VUS	1 lab	550dfaeaf9
11:108098586 ATM A>T	11	108098586	108098586	A	T	ATM	c.156A>T	NM_000051.4	NP_000042.3:p.(Gly52=)	NC_000011.9:g.108098586A>T	VUS	1 lab	551420f5ea
15:35084672 ACTC1 G>A	15	35084672	35084672	G	A	ACTC1	c.553C>T	NM_005159.5	NP_005150.1:p.(Arg185Trp)	NC_000015.9:g.35084672G>A	(Likely) pathogenic	1 lab	55207e9262
7:128480941 FLNC G>A	7	128480941	128480941	G	A	FLNC	c.1730G>A	NM_001458.5	NP_001449.3:p.(Trp577Ter)	NC_000007.13:g.128480941G>A	(Likely) pathogenic	1 lab	552b8c85d8
11:66291319 BBS1 G>A	11	66291319	66291319	G	A	BBS1	c.1076G>A	NM_024649.5	NP_078925.3:p.(Arg359His)	NC_000011.9:g.66291319G>A	(Likely) benign	1 lab	552d0cf07c
7:36895342 ELMO1 C>T	7	36895342	36895342	C	T	ELMO1	c.1998G>A	NM_001206482.2	NP_001193411.1:p.(Thr666=)	NC_000007.13:g.36895342C>T	(Likely) benign	1 lab	552e051375
8:144295209 GPIHBP1 G>A	8	144295209	144295209	G	A	GPIHBP1	c.52+15G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295209G>A	VUS	1 lab	5531c1d295
7:82072701 CACNA2D1 C>CCT	7	82072701	82072702	C	CCT	CACNA2D1	c.74_75insAG	NM_000722.4	NP_000713.2:p.(Pro26GlyfsTer55)	NC_000007.13:g.82072701_82072702insCT	(Likely) benign	1 lab	553434d1bf
X:5811014 NLGN4X G>C	X	5811014	5811014	G	C	NLGN4X	c.2295C>G	NM_001282145.2	NP_001269074.1:p.(Arg765=)	NC_000023.10:g.5811014G>C	(Likely) benign	1 lab	553cf3e64e
19:7595121 MCOLN1 C>T	19	7595121	7595121	C	T	MCOLN1	c.1360-51C>T	NM_020533.3	NP_065394.1:p.?	NC_000019.9:g.7595121C>T	(Likely) benign	1 lab	553d3d39a8
1:201179599 IGFN1 G>C	1	201179599	201179599	G	C	IGFN1	c.5578G>C	NM_001164586.2	NP_001158058.1:p.(Ala1860Pro)	NC_000001.10:g.201179599G>C	(Likely) benign	1 lab	553d60bc59
2:179463587 TTN C>T	2	179463587	179463587	C	T	TTN	c.56850G>A	NM_001267550.2	NP_001254479.2:p.(Val18950=)	NC_000002.11:g.179463587C>T	(Likely) benign	1 lab	554134df6f
18:34298542 FHOD3 G>A	18	34298542	34298542	G	A	FHOD3	c.3281G>A	NM_001281740.3	NP_001268669.1:p.(Arg1094Gln)	NC_000018.9:g.34298542G>A	(Likely) benign	1 lab	5547ccc0b5
16:989600 LMF1 CTG>C	16	989600	989605	CTG	C	LMF1	c.-51-5348_-51-5347del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.989604_989605del	(Likely) benign	1 lab	554877a265
13:23945189 SACS T>C	13	23945189	23945189	T	C	SACS	c.259+28A>G	NM_014363.6	NP_055178.3:p.?	NC_000013.10:g.23945189T>C	(Likely) benign	1 lab	554bcbec55
17:68171425 KCNJ2 G>A	17	68171425	68171425	G	A	KCNJ2	c.245G>A	NM_000891.3	NP_000882.1:p.(Arg82Gln)	NC_000017.10:g.68171425G>A	(Likely) pathogenic	1 lab	554f9e9927
1:10041298 NMNAT1 AT>A	1	10041298	10041311	AT	A	NMNAT1	c.439+83del	NM_001297778.1	NP_001284707.1:p.?	NC_000001.10:g.10041311del	(Likely) benign	1 lab	5551167a49
9:107578478 ABCA1 C>T	9	107578478	107578478	C	T	ABCA1	c.3684G>A	NM_005502.4	NP_005493.2:p.(Arg1228=)	NC_000009.11:g.107578478C>T	(Likely) benign	1 lab	55513ae9fc
2:108626828 SLC5A7 C>A	2	108626828	108626828	C	A	SLC5A7	c.1254C>A	NM_021815.5	NP_068587.1:p.(Phe418Leu)	NC_000002.11:g.108626828C>A	VUS	1 lab	5557d242e4
2:179426044 TTN T>C	2	179426044	179426044	T	C	TTN	c.84815A>G	NM_001267550.2	NP_001254479.2:p.(Lys28272Arg)	NC_000002.11:g.179426044T>C	VUS	1 lab	5558babfdc
16:56996950 CETP G>A	16	56996950	56996950	G	A	CETP	c.147G>A	NM_000078.3	NP_000069.2:p.(Gln49=)	NC_000016.9:g.56996950G>A	(Likely) benign	1 lab	555935bed7
20:62680821 SOX18 G>A	20	62680821	62680821	G	A	SOX18	c.49C>T	NM_018419.3	NP_060889.1:p.(Arg17Cys)	NC_000020.10:g.62680821G>A	VUS	1 lab	555d2a4624
7:121738926 AASS T>TAAAAAAA	7	121738926	121738950	T	TAAAAAAA	AASS	c.1407-13_1407-7dup	NM_005763.4	NP_005754.2:p.?	NC_000007.13:g.121738944_121738950dup	(Likely) benign	1 lab	555de01e55
16:67976598 LCAT G>A	16	67976598	67976598	G	A	LCAT	c.499C>T	NM_000229.2	NP_000220.1:p.(Pro167Ser)	NC_000016.9:g.67976598G>A	VUS	1 lab	555ed56215
X:9673068 TBL1X AC>A	X	9673068	9673070	AC	A	TBL1X	c.1152del	NM_005647.4	NP_005638.1:p.(Phe385LeufsTer50)	NC_000023.10:g.9673070del	(Likely) pathogenic	1 lab	555fbbc761
18:28648954 DSC2 G>T	18	28648954	28648954	G	T	DSC2	c.2414C>A	NM_004949.5	NP_004940.1:p.(Thr805Asn)	NC_000018.9:g.28648954G>T	VUS	1 lab	556104d193
14:92547425 ATXN3 C>G	14	92547425	92547425	C	G	ATXN3	c.776-20G>C	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92547425C>G	(Likely) benign	1 lab	5561637f03
2:44078853 ABCG8 G>A	2	44078853	44078853	G	A	ABCG8	c.453G>A	NM_022437.3	NP_071882.1:p.(Val151=)	NC_000002.11:g.44078853G>A	(Likely) benign	1 lab	55622cc729
6:75890733 COL12A1 A>G	6	75890733	75890733	A	G	COL12A1	c.2086T>C	NM_004370.6	NP_004361.3:p.(Leu696=)	NC_000006.11:g.75890733A>G	(Likely) benign	1 lab	5564db0f39
4:114186055 ANK2 T>C	4	114186055	114186055	T	C	ANK2	c.1389T>C	NM_001148.6	NP_001139.3:p.(Arg463=)	NC_000004.11:g.114186055T>C	(Likely) benign	1 lab	556aa719aa
18:34273250 FHOD3 C>T	18	34273250	34273250	C	T	FHOD3	c.2100C>T	NM_001281740.3	NP_001268669.1:p.(Ala700=)	NC_000018.9:g.34273250C>T	(Likely) benign	1 lab	556c13ac3e
2:21225274 APOB A>G	2	21225274	21225274	A	G	APOB	c.13020T>C	NM_000384.3	NP_000375.3:p.(Tyr4340=)	NC_000002.11:g.21225274A>G	(Likely) benign	1 lab	557257d5aa
11:27006060 MISSING A>Alt too long to show for this DUP	11	27006060	27234147	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.27006061_27234147dup	VUS	1 lab	5574bbb4d6
2:21232827 APOB T>C	2	21232827	21232827	T	C	APOB	c.6913A>G	NM_000384.3	NP_000375.3:p.(Ile2305Val)	NC_000002.11:g.21232827T>C	(Likely) benign	1 lab	55781866d3
11:86662859 FZD4 T>C	11	86662859	86662859	T	C	FZD4	c.939A>G	NM_012193.4	NP_036325.2:p.(Gly313=)	NC_000011.9:g.86662859T>C	(Likely) benign	1 lab	5580632b28
8:144994158 PLEC G>A	8	144994158	144994158	G	A	PLEC	c.10242C>T	NM_201380.4	NP_958782.1:p.(Gly3414=)	NC_000008.10:g.144994158G>A	(Likely) benign	1 lab	5581d25326
12:48389036 COL2A1 AC>A	12	48389036	48389037	AC	A	COL2A1	c.762+1del	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389037del	(Likely) pathogenic	1 lab	5582380c9d
8:1900911 ARHGEF10 C>T	8	1900911	1900911	C	T	ARHGEF10	c.3510C>T	NM_001308153.2	NP_001295082.1:p.(His1170=)	NC_000008.10:g.1900911C>T	(Likely) benign	1 lab	558dd3d026
11:124765521 ROBO4 G>C	11	124765521	124765521	G	C	ROBO4	c.868C>G	NM_019055.6	NP_061928.4:p.(Pro290Ala)	NC_000011.9:g.124765521G>C	VUS	1 lab	5597652226
14:23885426 MYH7 G>A	14	23885426	23885426	G	A	MYH7	c.4740C>T	NM_000257.4	NP_000248.2:p.(Asp1580=)	NC_000014.8:g.23885426G>A	(Likely) benign	1 lab	559a7ccc74
1:45808055 TOE1 G>A	1	45808055	45808055	G	A	TOE1	c.493-1G>A	NM_025077.4	NP_079353.3:p.?	NC_000001.10:g.45808055G>A	(Likely) pathogenic	1 lab	55a4d943b5
6:56469842 DST T>A	6	56469842	56469842	T	A	DST	c.9584A>T	NM_001374722.1	NP_001361651.1:p.(Asp3195Val)	NC_000006.11:g.56469842T>A	VUS	1 lab	55a53fe85a
22:50900263 SBF1 C>T	22	50900263	50900263	C	T	SBF1	c.2605G>A	NM_002972.4	NP_002963.2:p.(Val869Met)	NC_000022.10:g.50900263C>T	VUS	1 lab	55a6071338
2:170034551 LRP2 A>C	2	170034551	170034551	A	C	LRP2	c.10170-15T>G	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170034551A>C	(Likely) benign	1 lab	55aa4107d2
15:31221509 FAN1 G>A	15	31221509	31221509	G	A	FAN1	c.2696G>A	NM_014967.5	NP_055782.3:p.(Arg899Gln)	NC_000015.9:g.31221509G>A	(Likely) benign	1 lab	55aa9f3f55
10:61959881 ANK3 G>A	10	61959881	61959881	G	A	ANK3	c.1491+6C>T	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61959881G>A	(Likely) benign	1 lab	55afe291b5
2:219677348 CYP27A1 C>T	2	219677348	219677348	C	T	CYP27A1	c.720C>T	NM_000784.4	NP_000775.1:p.(Phe240=)	NC_000002.11:g.219677348C>T	(Likely) benign	1 lab	55bd968cd8
3:36999469 MISSING Ref too long to show for this DEL>T	3	36999469	37440954	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.36999471_37440954del	VUS	1 lab	55c064492b
11:47358517 MYBPC3 C>T	11	47358517	47358517	C	T	MYBPC3	c.2602+425G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358517C>T	(Likely) benign	1 lab	55c8461988
11:108170515 ATM G>A	11	108170515	108170515	G	A	ATM	c.5080G>A	NM_000051.4	NP_000042.3:p.(Ala1694Thr)	NC_000011.9:g.108170515G>A	VUS	1 lab	55c87de7bc
4:650831 PDE6B G>A	4	650831	650831	G	A	PDE6B	c.1257+19G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.650831G>A	(Likely) benign	1 lab	55c8fd4730
18:77474654 CTDP1 C>T	18	77474654	77474654	C	T	CTDP1	c.1194C>T	NM_004715.5	NP_004706.3:p.(Pro398=)	NC_000018.9:g.77474654C>T	(Likely) benign	1 lab	55c90c5e10
2:179666853 TTN C>T	2	179666853	179666853	C	T	TTN	c.295+12G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179666853C>T	(Likely) benign	1 lab	55c99adb6c
X:19041551 ADGRG2 A>G	X	19041551	19041551	A	G	ADGRG2	c.531T>C	NM_001079858.3	NP_001073327.1:p.(Ala177=)	NC_000023.10:g.19041551A>G	(Likely) benign	1 lab	55ca2f8fdf
5:178413430 GRM6 G>A	5	178413430	178413430	G	A	GRM6	c.1825C>T	NM_000843.4	NP_000834.2:p.(Arg609Trp)	NC_000005.9:g.178413430G>A	VUS	1 lab	55d0053afa
3:9787598 BRPF1 C>T	3	9787598	9787598	C	T	BRPF1	c.3308C>T	NM_001003694.2	NP_001003694.1:p.(Pro1103Leu)	NC_000003.11:g.9787598C>T	VUS	1 lab	55da9af2f5
8:19810830 LPL A>C	8	19810830	19810830	A	C	LPL	c.439A>C	NM_000237.3	NP_000228.1:p.(Asn147His)	NC_000008.10:g.19810830A>C	VUS	1 lab	55e6a6a348
17:8192382 RANGRF G>T	17	8192382	8192382	G	T	RANGRF	c.186G>T	NM_001177802.2	NP_001171273.1:p.(Ala62=)	NC_000017.10:g.8192382G>T	(Likely) benign	1 lab	55e9988be6
X:18339029 MISSING C>Alt too long to show for this DUP	X	18339029	18624975	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.18339030_18624975dup	VUS	1 lab	55f2a6f36e
X:9716631 GPR143 G>GT	X	9716631	9716632	G	GT	GPR143	c.530dup	NM_000273.3	NP_000264.2:p.(Tyr177Ter)	NC_000023.10:g.9716632dup	(Likely) pathogenic	1 lab	55f85dc647
15:32895575 GOLGA8N T>C	15	32895575	32895575	T	C	GOLGA8N	c.1475T>C	NM_001282494.1	NP_001269423.1:p.(Ile492Thr)	NC_000015.9:g.32895575T>C	(Likely) benign	1 lab	55fd344e8b
2:21235184 APOB T>C	2	21235184	21235184	T	C	APOB	c.4556A>G	NM_000384.3	NP_000375.3:p.(Asn1519Ser)	NC_000002.11:g.21235184T>C	(Likely) benign	1 lab	55fe875ea6
18:28666599 DSC2 T>C	18	28666599	28666599	T	C	DSC2	c.882A>G	NM_004949.5	NP_004940.1:p.(Leu294=)	NC_000018.9:g.28666599T>C	(Likely) benign	1 lab	560285a67d
2:21260528 APOB G>GT	2	21260528	21260529	G	GT	APOB	c.537+301dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260529dup	(Likely) benign	1 lab	5603a064c8
2:179659654 TTN T>C	2	179659654	179659654	T	C	TTN	c.1240A>G	NM_001267550.2	NP_001254479.2:p.(Lys414Glu)	NC_000002.11:g.179659654T>C	VUS	1 lab	5617c09b35
14:23885257 MYH7 C>T	14	23885257	23885257	C	T	MYH7	c.4909G>A	NM_000257.4	NP_000248.2:p.(Ala1637Thr)	NC_000014.8:g.23885257C>T	VUS	1 lab	562220dfe8
1:180243420 LHX4 C>T	1	180243420	180243420	C	T	LHX4	c.879C>T	NM_033343.4	NP_203129.1:p.(Asp293=)	NC_000001.10:g.180243420C>T	(Likely) benign	1 lab	5623452299
11:66455761 SPTBN2 G>A	11	66455761	66455761	G	A	SPTBN2	c.6253C>T	NM_006946.4	NP_008877.2:p.(Arg2085Ter)	NC_000011.9:g.66455761G>A	(Likely) pathogenic	1 lab	5628ecc7f5
16:711950 WDR90 C>T	16	711950	711950	C	T	WDR90	c.3924C>T	NM_145294.5	NP_660337.3:p.(Tyr1308=)	NC_000016.9:g.711950C>T	(Likely) benign	1 lab	5629129f61
5:95728870 PCSK1 G>A	5	95728870	95728870	G	A	PCSK1	c.2097C>T	NM_000439.5	NP_000430.3:p.(Asn699=)	NC_000005.9:g.95728870G>A	(Likely) benign	1 lab	562a59f6f0
7:30067347 MISSING Ref too long to show for this DEL>C	7	30067347	30091051	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.30067348_30091051del	VUS	1 lab	562beb245c
7:128489504 FLNC G>A	7	128489504	128489504	G	A	FLNC	c.5071G>A	NM_001458.5	NP_001449.3:p.(Asp1691Asn)	NC_000007.13:g.128489504G>A	VUS	1 lab	562ee15a6a
2:105990073 FHL2 A>G	2	105990073	105990073	A	G	FHL2	c.274T>C	NM_201555.2	NP_963849.1:p.(Cys92Arg)	NC_000002.11:g.105990073A>G	VUS	1 lab	562f411053
7:128477114 FLNC G>A	7	128477114	128477114	G	A	FLNC	c.602-100G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477114G>A	(Likely) benign	1 lab	56384401ad
X:66941679 AR C>T	X	66941679	66941679	C	T	AR	c.2323C>T	NM_000044.6	NP_000035.2:p.(Arg775Cys)	NC_000023.10:g.66941679C>T	(Likely) pathogenic	1 lab	56614f323c
1:202711805 KDM5B GC>G	1	202711805	202711806	GC	G	KDM5B	c.2559del	NM_001314042.1	NP_001300971.1:p.(Leu853PhefsTer21)	NC_000001.10:g.202711806del	(Likely) pathogenic	1 lab	563c20b366
6:56492845 DST A>C	6	56492845	56492845	A	C	DST	c.4491T>G	NM_001144769.5	NP_001138241.1:p.(Asn1497Lys)	NC_000006.11:g.56492845A>C	(Likely) benign	1 lab	5641245560
1:55524212 PCSK9 G>A	1	55524212	55524212	G	A	PCSK9	c.1395G>A	NM_174936.4	NP_777596.2:p.(Ser465=)	NC_000001.10:g.55524212G>A	(Likely) benign	1 lab	5642a31067
4:56438532 MISSING G>Alt too long to show for this DUP	4	56438532	56482282	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.56438533_56482282dup	VUS	1 lab	5642d5d108
15:73615262 HCN4 A>C	15	73615262	73615262	A	C	HCN4	c.3172T>G	NM_005477.3	NP_005468.1:p.(Ser1058Ala)	NC_000015.9:g.73615262A>C	VUS	1 lab	564519dbd3
15:78441744 IDH3A C>T	15	78441744	78441744	C	T	IDH3A	c.-2C>T	NM_005530.3	NP_005521.1:p.?	NC_000015.9:g.78441744C>T	(Likely) benign	1 lab	56487e0ad2
2:179435355 TTN A>C	2	179435355	179435355	A	C	TTN	c.75504T>G	NM_001267550.2	NP_001254479.2:p.(Ser25168Arg)	NC_000002.11:g.179435355A>C	VUS	1 lab	564952e997
9:103027226 INVS CT>C	9	103027226	103027242	CT	C	INVS	c.1571+32del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103027242del	(Likely) benign	1 lab	564e040c8e
11:31605858 ELP4 Ref too long to show for this DEL>A	11	31605858	31775457	Ref too long to show for this DEL	A	ELP4	c.382-10458_1144-29484del	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31605859_31775457del	VUS	1 lab	56517db7ca
2:161486523 MISSING Ref too long to show for this DEL>A	2	161486523	168628278	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.161486527_168628278del	(Likely) pathogenic	1 lab	5654ce1169
9:107546653 ABCA1 G>T	9	107546653	107546653	G	T	ABCA1	c.6729C>A	NM_005502.4	NP_005493.2:p.(Asp2243Glu)	NC_000009.11:g.107546653G>T	(Likely) benign	1 lab	5654f0429a
7:91630801 AKAP9 T>C	7	91630801	91630801	T	C	AKAP9	c.1570T>C	NM_005751.5	NP_005742.4:p.(Cys524Arg)	NC_000007.13:g.91630801T>C	VUS	1 lab	56696e4a5a
8:59404337 CYP7A1 C>G	8	59404337	59404337	C	G	CYP7A1	c.1216-4G>C	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404337C>G	VUS	1 lab	566ee26fbe
7:107314624 SLC26A4 T>C	7	107314624	107314624	T	C	SLC26A4	c.431T>C	NM_000441.2	NP_000432.1:p.(Val144Ala)	NC_000007.13:g.107314624T>C	VUS	1 lab	567051c1fd
16:58620619 CNOT1 A>G	16	58620619	58620619	A	G	CNOT1	c.467T>C	NM_016284.5	NP_057368.3:p.(Leu156Pro)	NC_000016.9:g.58620619A>G	VUS	1 lab	5673a35ef3
13:77574952 CLN5 T>C	13	77574952	77574952	T	C	CLN5	c.925T>C	NM_006493.4	NP_006484.2:p.(Leu309=)	NC_000013.10:g.77574952T>C	(Likely) benign	1 lab	5677a2a39f
15:63335074 TPM1 G>C	15	63335074	63335074	G	C	TPM1	c.46G>C	NM_001365776.1	NP_001352705.1:p.(Glu16Gln)	NC_000015.9:g.63335074G>C	VUS	1 lab	5677db5ddd
13:32911142 BRCA2 TCAGA>T	13	32911142	32911148	TCAGA	T	BRCA2	c.2653_2656del	NM_000059.4	NP_000050.3:p.(Asp885MetfsTer9)	NC_000013.10:g.32911145_32911148del	(Likely) pathogenic	1 lab	5678eacb85
1:161332107 SDHC C>T	1	161332107	161332107	C	T	SDHC	c.406-12C>T	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332107C>T	(Likely) benign	1 lab	567f5e0b96
6:7576533 DSP G>A	6	7576533	7576533	G	A	DSP	c.2637G>A	NM_004415.4	NP_004406.2:p.(Trp879Ter)	NC_000006.11:g.7576533G>A	(Likely) pathogenic	1 lab	5683e85a06
2:47606016 EPCAM A>G	2	47606016	47606016	A	G	EPCAM	c.556-76A>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47606016A>G	(Likely) benign	1 lab	5685f537ee
4:166300693 CPE C>T	4	166300693	166300693	C	T	CPE	c.307+13C>T	NM_001873.4	NP_001864.1:p.?	NC_000004.11:g.166300693C>T	(Likely) benign	1 lab	5685f7ceb6
22:32239768 DEPDC5 A>G	22	32239768	32239768	A	G	DEPDC5	c.2771A>G	NM_001242896.3	NP_001229825.1:p.(Tyr924Cys)	NC_000022.10:g.32239768A>G	VUS	1 lab	56b668a2a9
17:78086434 GAA TGGCCACGGCCGATACGCC>T	17	78086434	78086458	TGGCCACGGCCGATACGCC	T	GAA	c.1819_1836del	NM_000152.5	NP_000143.2:p.(Gly607_His612del)	NC_000017.10:g.78086441_78086458del	(Likely) pathogenic	1 lab	569121bc8b
2:179588854 TTN G>A	2	179588854	179588854	G	A	TTN	c.21132C>T	NM_001267550.2	NP_001254479.2:p.(Pro7044=)	NC_000002.11:g.179588854G>A	(Likely) benign	1 lab	5695f686e5
1:161277071 MPZ C>A	1	161277071	161277071	C	A	MPZ	c.211G>T	NM_000530.8	NP_000521.2:p.(Glu71Ter)	NC_000001.10:g.161277071C>A	(Likely) pathogenic	1 lab	56974e2db6
9:139395265 NOTCH1 G>A	9	139395265	139395265	G	A	NOTCH1	c.5673C>T	NM_017617.5	NP_060087.3:p.(Ser1891=)	NC_000009.11:g.139395265G>A	(Likely) benign	1 lab	56985a62a2
15:58856086 LIPC C>T	15	58856086	58856086	C	T	LIPC	c.1388+164C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856086C>T	(Likely) benign	1 lab	569f3cb83a
11:108098501 ATM A>G	11	108098501	108098501	A	G	ATM	c.73-2A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108098501A>G	(Likely) pathogenic	1 lab	56a0df1aaf
18:47101883 LIPG T>C	18	47101883	47101883	T	C	LIPG	c.716T>C	NM_006033.4	NP_006024.1:p.(Ile239Thr)	NC_000018.9:g.47101883T>C	VUS	1 lab	56a4a347fd
3:38941494 SCN11A C>T	3	38941494	38941494	C	T	SCN11A	c.1913G>A	NM_001349253.2	NP_001336182.1:p.(Arg638His)	NC_000003.11:g.38941494C>T	VUS	1 lab	56a7160eaf
3:148899778 CP G>C	3	148899778	148899778	G	C	CP	c.2554+14C>G	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148899778G>C	(Likely) benign	1 lab	56a77851d9
8:8585058 MISSING Ref too long to show for this DEL>T	8	8585058	8702607	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.8585059_8702607del	VUS	1 lab	56aa5cc4c1
5:178559287 ADAMTS2 G>Alt too long to show for this DUP	5	178559287	178749181	G	Alt too long to show for this DUP	ADAMTS2	c.534+21587_2233dup	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178559288_178749181dup	VUS	1 lab	56b22aaa2c
12:125292290 SCARB1 C>T	12	125292290	125292290	C	T	SCARB1	c.1009+17G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125292290C>T	(Likely) benign	1 lab	56b3ec72ce
2:179477162 TTN CCTTT>C	2	179477162	179477166	CCTTT	C	TTN	c.50086_50089del	NM_001267550.2	NP_001254479.2:p.(Lys16696AlafsTer19)	NC_000002.11:g.179477163_179477166del	(Likely) benign	1 lab	56b40af9a9
11:1776247 CTSD G>A	11	1776247	1776247	G	A	CTSD	c.716C>T	NM_001909.5	NP_001900.1:p.(Ala239Val)	NC_000011.9:g.1776247G>A	(Likely) benign	1 lab	56b676cb63
16:46766141 MYLK3 C>T	16	46766141	46766141	C	T	MYLK3	c.1441G>A	NM_182493.3	NP_872299.2:p.(Glu481Lys)	NC_000016.9:g.46766141C>T	(Likely) benign	1 lab	56b67d3f4d
20:19955473 RIN2 C>T	20	19955473	19955473	C	T	RIN2	c.951C>T	NM_001242581.2	NP_001229510.1:p.(Ala317=)	NC_000020.10:g.19955473C>T	(Likely) benign	1 lab	56b83a42f8
5:89979425 ADGRV1 T>C	5	89979425	89979425	T	C	ADGRV1	c.5687T>C	NM_032119.4	NP_115495.3:p.(Leu1896Pro)	NC_000005.9:g.89979425T>C	VUS	1 lab	56bf22f5fd
2:125121698 CNTNAP5 Ref too long to show for this DEL>A	2	125121698	125357730	Ref too long to show for this DEL	A	CNTNAP5	c.382-53321_1757-9648del	NM_001367498.1	NP_001354427.1:p.?	NC_000002.11:g.125121699_125357730del	VUS	1 lab	56c48ed3c2
2:179598024 TTN T>C	2	179598024	179598024	T	C	TTN	c.15996A>G	NM_001267550.2	NP_001254479.2:p.(Thr5332=)	NC_000002.11:g.179598024T>C	(Likely) benign	1 lab	56cdc7c8bc
11:108139266 ATM T>C	11	108139266	108139266	T	C	ATM	c.2768T>C	NM_000051.4	NP_000042.3:p.(Ile923Thr)	NC_000011.9:g.108139266T>C	VUS	1 lab	56d0191de2
4:146576418 MMAA G>C	4	146576418	146576418	G	C	MMAA	c.1089G>C	NM_172250.3	NP_758454.1:p.(Gln363His)	NC_000004.11:g.146576418G>C	(Likely) benign	1 lab	56d8767d6c
13:32890608 BRCA2 G>C	13	32890608	32890608	G	C	BRCA2	c.11G>C	NM_000059.4	NP_000050.3:p.(Gly4Ala)	NC_000013.10:g.32890608G>C	(Likely) benign	1 lab	56dd549d88
13:32913336 BRCA2 T>A	13	32913336	32913336	T	A	BRCA2	c.4844T>A	NM_000059.4	NP_000050.3:p.(Leu1615His)	NC_000013.10:g.32913336T>A	(Likely) benign	1 lab	56de564a43
6:7567461 DSP T>A	6	7567461	7567461	T	A	DSP	c.1045-126T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7567461T>A	(Likely) benign	1 lab	56deee5d7a
22:50893714 SBF1 A>G	22	50893714	50893714	A	G	SBF1	c.4493T>C	NM_002972.4	NP_002963.2:p.(Leu1498Pro)	NC_000022.10:g.50893714A>G	VUS	1 lab	56dfdca2b8
19:45867347 ERCC2 C>T	19	45867347	45867347	C	T	ERCC2	c.846G>A	NM_000400.4	NP_000391.1:p.(Arg282=)	NC_000019.9:g.45867347C>T	(Likely) benign	1 lab	56e177a5f0
11:76922310 MYO7A C>T	11	76922310	76922310	C	T	MYO7A	c.6165C>T	NM_000260.4	NP_000251.3:p.(Ser2055=)	NC_000011.9:g.76922310C>T	(Likely) benign	1 lab	56e4d649ad
5:178634498 ADAMTS2 CAG>C	5	178634498	178634500	CAG	C	ADAMTS2	c.891+14_891+15del	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634499_178634500del	(Likely) benign	1 lab	56e620ac37
15:96853088 MISSING Ref too long to show for this DEL>T	15	96853088	96896883	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.96853091_96896883del	VUS	1 lab	56e6e353d7
2:108609410 SLC5A7 C>G	2	108609410	108609410	C	G	SLC5A7	c.293-18C>G	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108609410C>G	(Likely) benign	1 lab	56e8499108
6:157511219 ARID1B C>G	6	157511219	157511219	C	G	ARID1B	c.3986C>G	NM_001371656.1	NP_001358585.1:p.(Ser1329Ter)	NC_000006.11:g.157511219C>G	(Likely) pathogenic	1 lab	56fb00d5b5
12:2693801 CACNA1C C>T	12	2693801	2693801	C	T	CACNA1C	c.2339+18C>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2693801C>T	(Likely) benign	1 lab	56fef44378
17:1564292 PRPF8 A>G	17	1564292	1564292	A	G	PRPF8	c.4503T>C	NM_006445.4	NP_006436.3:p.(Leu1501=)	NC_000017.10:g.1564292A>G	(Likely) benign	1 lab	570037add4
16:2134393 TSC2 G>A	16	2134393	2134393	G	A	TSC2	c.4170G>A	NM_000548.5	NP_000539.2:p.(Glu1390=)	NC_000016.9:g.2134393G>A	(Likely) benign	1 lab	5700617f79
6:32011369 TNXB G>T	6	32011369	32011369	G	T	TNXB	c.11525-36C>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011369G>T	(Likely) benign	1 lab	5704e628ee
1:94487422 ABCA4 G>A	1	94487422	94487422	G	A	ABCA4	c.4753C>T	NM_000350.3	NP_000341.2:p.(Arg1585Trp)	NC_000001.10:g.94487422G>A	VUS	1 lab	570666005e
6:26199758 MISSING T>Alt too long to show for this DUP	6	26199758	26234718	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.26199759_26234718dup	VUS	1 lab	570aab5ec6
4:55144455 MISSING G>Alt too long to show for this DUP	4	55144455	55181915	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.55144456_55181915dup	VUS	1 lab	570ee44f63
3:78936429 ROBO1 Ref too long to show for this DEL>G	3	78936429	79024924	Ref too long to show for this DEL	G	ROBO1	c.173-36846_499+51321del	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.78936431_79024924del	VUS	1 lab	5713b0f7bb
9:32543665 TOPORS G>A	9	32543665	32543665	G	A	TOPORS	c.858C>T	NM_005802.5	NP_005793.2:p.(Phe286=)	NC_000009.11:g.32543665G>A	(Likely) benign	1 lab	57153ca21d
15:48818163 FBN1 C>T	15	48818163	48818163	C	T	FBN1	c.988+164G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818163C>T	(Likely) benign	1 lab	5717b8a180
16:67977061 LCAT A>G	16	67977061	67977061	A	G	LCAT	c.209T>C	NM_000229.2	NP_000220.1:p.(Val70Ala)	NC_000016.9:g.67977061A>G	VUS	1 lab	5718367a3c
2:21228151 APOB C>T	2	21228151	21228151	C	T	APOB	c.11589G>A	NM_000384.3	NP_000375.3:p.(Glu3863=)	NC_000002.11:g.21228151C>T	(Likely) benign	1 lab	571e204204
20:60639883 TAF4 T>C	20	60639883	60639883	T	C	TAF4	c.984A>G	NM_003185.4	NP_003176.2:p.(Gln328=)	NC_000020.10:g.60639883T>C	(Likely) benign	1 lab	5723e42a40
15:28483809 HERC2 G>A	15	28483809	28483809	G	A	HERC2	c.3687C>T	NM_004667.6	NP_004658.3:p.(Asp1229=)	NC_000015.9:g.28483809G>A	(Likely) benign	1 lab	57291eb36a
11:66331571 CTSF G>A	11	66331571	66331571	G	A	CTSF	c.1368C>T	NM_003793.4	NP_003784.2:p.(Asp456=)	NC_000011.9:g.66331571G>A	(Likely) benign	1 lab	57297d538c
16:74339803 MISSING T>Alt too long to show for this DUP	16	74339803	74542911	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.74339804_74542911dup	VUS	1 lab	572b48e93f
1:156849110 NTRK1 G>T	1	156849110	156849110	G	T	NTRK1	c.2002G>T	NM_002529.4	NP_002520.2:p.(Asp668Tyr)	NC_000001.10:g.156849110G>T	(Likely) pathogenic	1 lab	57347a4a01
12:116434999 MED13L G>A	12	116434999	116434999	G	A	MED13L	c.2606C>T	NM_015335.5	NP_056150.1:p.(Pro869Leu)	NC_000012.11:g.116434999G>A	(Likely) pathogenic	1 lab	57388d90bf
2:27292506 AGBL5 C>T	2	27292506	27292506	C	T	AGBL5	c.2421C>T	NM_021831.6	NP_068603.4:p.(Pro807=)	NC_000002.11:g.27292506C>T	(Likely) benign	1 lab	573e955d57
15:85383466 ALPK3 A>C	15	85383466	85383466	A	C	ALPK3	c.956A>C	NM_020778.5	NP_065829.4:p.(Lys319Thr)	NC_000015.9:g.85383466A>C	VUS	1 lab	573ffa4edd
9:35061107 VCP C>T	9	35061107	35061107	C	T	VCP	c.1264G>A	NM_007126.5	NP_009057.1:p.(Ala422Thr)	NC_000009.11:g.35061107C>T	(Likely) benign	1 lab	5742ac3d68
7:150644527 KCNH2 C>T	7	150644527	150644527	C	T	KCNH2	c.3041G>A	NM_000238.4	NP_000229.1:p.(Arg1014Gln)	NC_000007.13:g.150644527C>T	VUS	1 lab	57447edee3
15:55526986 RAB27A T>C	15	55526986	55526986	T	C	RAB27A	c.147A>G	NM_004580.5	NP_004571.2:p.(Lys49=)	NC_000015.9:g.55526986T>C	(Likely) benign	1 lab	57463d31cd
16:46763611 MYLK3 T>C	16	46763611	46763611	T	C	MYLK3	c.1569-12A>G	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46763611T>C	(Likely) benign	1 lab	574adf1765
1:63067511 ANGPTL3 A>G	1	63067511	63067511	A	G	ANGPTL3	c.793A>G	NM_014495.4	NP_055310.1:p.(Ser265Gly)	NC_000001.10:g.63067511A>G	(Likely) benign	1 lab	574af0452b
2:179401087 TTN A>G	2	179401087	179401087	A	G	TTN	c.92683T>C	NM_133378.4	NP_596869.4:p.(Tyr30895His)	NC_000002.11:g.179401087A>G	VUS	1 lab	574e8c1687
2:220145330 DNAJB2 A>G	2	220145330	220145330	A	G	DNAJB2	c.96A>G	NM_006736.6	NP_006727.2:p.(Pro32=)	NC_000002.11:g.220145330A>G	(Likely) benign	1 lab	574f862a30
9:135144993 SETX G>T	9	135144993	135144993	G	T	SETX	c.7287+9C>A	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135144993G>T	(Likely) benign	1 lab	5757de4898
2:61715320 XPO1 G>A	2	61715320	61715320	G	A	XPO1	c.2293C>T	NM_003400.4	NP_003391.1:p.(Arg765Ter)	NC_000002.11:g.61715320G>A	(Likely) pathogenic	1 lab	575d16c101
8:100108537 VPS13B T>C	8	100108537	100108537	T	C	VPS13B	c.292-3T>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100108537T>C	(Likely) benign	1 lab	575f92185f
6:79671522 PHIP C>A	6	79671522	79671522	C	A	PHIP	c.3541G>T	NM_017934.7	NP_060404.4:p.(Ala1181Ser)	NC_000006.11:g.79671522C>A	VUS	1 lab	5760661712
11:108202751 ATM C>G	11	108202751	108202751	C	G	ATM	c.7775C>G	NM_000051.4	NP_000042.3:p.(Ser2592Cys)	NC_000011.9:g.108202751C>G	VUS	1 lab	576349c167
X:130410973 IGSF1 G>A	X	130410973	130410973	G	A	IGSF1	c.2563C>T	NM_001170961.2	NP_001164432.1:p.(Arg855Ter)	NC_000023.10:g.130410973G>A	(Likely) pathogenic	1 lab	576a6ac195
16:88798181 PIEZO1 G>A	16	88798181	88798181	G	A	PIEZO1	c.3129C>T	NM_001142864.4	NP_001136336.2:p.(Leu1043=)	NC_000016.9:g.88798181G>A	(Likely) benign	1 lab	576b85c11f
X:100653101 GLA A>G	X	100653101	100653101	A	G	GLA	c.1000-14T>C	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100653101A>G	(Likely) benign	1 lab	576f262f90
6:10796288 MAK CTG>C	6	10796288	10796291	CTG	C	MAK	c.1084_1085del	NM_001242957.3	NP_001229886.1:p.(Gln362GlufsTer20)	NC_000006.11:g.10796290_10796291del	(Likely) pathogenic	1 lab	5770f7f99d
10:88476274 LDB3 G>T	10	88476274	88476274	G	T	LDB3	c.1437G>T	NM_001171610.2	NP_001165081.1:p.(Ser479=)	NC_000010.10:g.88476274G>T	VUS	1 lab	5772427506
15:77025588 SCAPER T>A	15	77025588	77025588	T	A	SCAPER	c.2022A>T	NM_001353009.2	NP_001339938.1:p.(Ala674=)	NC_000015.9:g.77025588T>A	(Likely) benign	1 lab	57751d9e77
3:14177388 TMEM43 C>T	3	14177388	14177388	C	T	TMEM43	c.862C>T	NM_024334.3	NP_077310.1:p.(His288Tyr)	NC_000003.11:g.14177388C>T	VUS	1 lab	578160bb59
2:230636234 TRIP12 C>T	2	230636234	230636234	C	T	TRIP12	c.5808+1G>A	NM_001348325.2	NP_001335254.1:p.?	NC_000002.11:g.230636234C>T	(Likely) pathogenic	1 lab	5782be4417
6:32489751 HLA-DRB5 GC>G	6	32489751	32489753	GC	G	HLA-DRB5	c.300del	NM_002125.4	NP_002116.2:p.(Arg100SerfsTer29)	NC_000006.11:g.32489753del	(Likely) benign	1 lab	5784b19866
14:21679677 HNRNPC A>G	14	21679677	21679677	A	G	HNRNPC	c.725T>C	NM_031314.3	NP_112604.2:p.(Val242Ala)	NC_000014.8:g.21679677A>G	(Likely) benign	1 lab	5786e23de3
10:121436092 BAG3 C>G	10	121436092	121436092	C	G	BAG3	c.1026C>G	NM_004281.4	NP_004272.2:p.(Ile342Met)	NC_000010.10:g.121436092C>G	VUS	1 lab	5786ebacaf
X:32841436 DMD A>G	X	32841436	32841436	A	G	DMD	c.321T>C	NM_004009.3	NP_004000.1:p.(Ile107=)	NC_000023.10:g.32841436A>G	(Likely) benign	1 lab	57910e883e
1:33276594 YARS1 C>T	1	33276594	33276594	C	T	YARS1	c.122G>A	NM_003680.4	NP_003671.1:p.(Gly41Glu)	NC_000001.10:g.33276594C>T	VUS	1 lab	57919ff16b
2:179462634 TTN C>T	2	179462634	179462634	C	T	TTN	c.57262+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179462634C>T	(Likely) pathogenic	1 lab	5793bf1ed8
10:298309 ZMYND11 G>GC	10	298309	298311	G	GC	ZMYND11	c.1710dup	NM_006624.7	NP_006615.2:p.(Met571HisfsTer61)	NC_000010.10:g.298311dup	(Likely) pathogenic	1 lab	579488a4e3
17:59885879 BRIP1 G>C	17	59885879	59885879	G	C	BRIP1	c.867C>G	NM_032043.3	NP_114432.2:p.(Val289=)	NC_000017.10:g.59885879G>C	(Likely) benign	1 lab	579939894f
16:30094834 PPP4C C>T	16	30094834	30094834	C	T	PPP4C	c.423C>T	NM_002720.3	NP_002711.1:p.(Arg141=)	NC_000016.9:g.30094834C>T	(Likely) benign	1 lab	5799c1586a
X:1344636 MISSING Ref too long to show for this DEL>T	X	1344636	1422436	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.1344638_1422436del	(Likely) pathogenic	1 lab	579b041abf
9:107576490 ABCA1 T>G	9	107576490	107576490	T	G	ABCA1	c.3810A>C	NM_005502.4	NP_005493.2:p.(Arg1270=)	NC_000009.11:g.107576490T>G	(Likely) benign	1 lab	579c5e653f
1:63063300 ANGPTL3 A>C	1	63063300	63063300	A	C	ANGPTL3	c.63A>C	NM_014495.4	NP_055310.1:p.(Gln21His)	NC_000001.10:g.63063300A>C	(Likely) benign	1 lab	579e3a6ad2
2:1459958 TPO C>T	2	1459958	1459958	C	T	TPO	c.723C>T	NM_000547.6	NP_000538.3:p.(Ile241=)	NC_000002.11:g.1459958C>T	(Likely) benign	1 lab	579feda871
6:166464157 MISSING T>Alt too long to show for this DUP	6	166464157	166674902	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.166464158_166674902dup	VUS	1 lab	57a64ebdc8
2:27671896 IFT172 G>T	2	27671896	27671896	G	T	IFT172	c.4314C>A	NM_015662.3	NP_056477.1:p.(Asn1438Lys)	NC_000002.11:g.27671896G>T	VUS	1 lab	57ae42e85c
13:92308889 GPC5 Ref too long to show for this DEL>G	13	92308889	92378959	Ref too long to show for this DEL	G	GPC5	c.326-36551_1021-1827del	NM_004466.6	NP_004457.1:p.?	NC_000013.10:g.92308890_92378959del	VUS	1 lab	57af61d894
1:2160744 SKI C>A	1	2160744	2160744	C	A	SKI	c.539C>A	NM_003036.4	NP_003027.1:p.(Thr180Lys)	NC_000001.10:g.2160744C>A	(Likely) pathogenic	1 lab	57b1df3615
2:21237388 APOB C>G	2	21237388	21237388	C	G	APOB	c.3774G>C	NM_000384.3	NP_000375.3:p.(Leu1258=)	NC_000002.11:g.21237388C>G	(Likely) benign	1 lab	57b815af5b
1:63067503 ANGPTL3 T>C	1	63067503	63067503	T	C	ANGPTL3	c.785T>C	NM_014495.4	NP_055310.1:p.(Ile262Thr)	NC_000001.10:g.63067503T>C	(Likely) benign	1 lab	57be83fd9a
19:22171667 ZNF208 C>T	19	22171667	22171667	C	T	ZNF208	c.48G>A	NM_007153.3	NP_009084.2:p.(Glu16=)	NC_000019.9:g.22171667C>T	(Likely) benign	1 lab	57bece095a
20:45362399 SLC2A10 A>G	20	45362399	45362399	A	G	SLC2A10	c.1552A>G	NM_030777.4	NP_110404.1:p.(Thr518Ala)	NC_000020.10:g.45362399A>G	(Likely) benign	1 lab	57c119c6fc
1:235950673 LYST A>G	1	235950673	235950673	A	G	LYST	c.4689T>C	NM_001301365.1	NP_001288294.1:p.(Arg1563=)	NC_000001.10:g.235950673A>G	(Likely) benign	1 lab	57c3df6f9b
6:32053864 TNXB G>T	6	32053864	32053864	G	T	TNXB	c.2811C>A	NM_019105.8	NP_061978.6:p.(Thr937=)	NC_000006.11:g.32053864G>T	(Likely) benign	1 lab	57c831400e
2:179438551 TTN G>A	2	179438551	179438551	G	A	TTN	c.72308C>T	NM_001267550.2	NP_001254479.2:p.(Thr24103Ile)	NC_000002.11:g.179438551G>A	VUS	1 lab	57cbf69ed0
3:37536056 ITGA9 C>T	3	37536056	37536056	C	T	ITGA9	c.609C>T	NM_002207.3	NP_002198.2:p.(Thr203=)	NC_000003.11:g.37536056C>T	(Likely) benign	1 lab	57ce45699c
9:107582360 ABCA1 G>A	9	107582360	107582360	G	A	ABCA1	c.2961-10C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582360G>A	(Likely) benign	1 lab	57cf1f3505
2:179427562 TTN G>A	2	179427562	179427562	G	A	TTN	c.83297C>T	NM_001267550.2	NP_001254479.2:p.(Ser27766Leu)	NC_000002.11:g.179427562G>A	VUS	1 lab	57d7364c7c
16:88505287 ZNF469 G>C	16	88505287	88505287	G	C	ZNF469	c.11409G>C	NM_001367624.2	NP_001354553.1:p.(Gly3803=)	NC_000016.9:g.88505287G>C	(Likely) benign	1 lab	57d77f8d9a
19:45412424 APOE C>T	19	45412424	45412424	C	T	APOE	c.949C>T	NM_001302688.2	NP_001289617.1:p.(Gln317Ter)	NC_000019.9:g.45412424C>T	VUS	1 lab	57ddc253c3
20:61048448 GATA5 C>T	20	61048448	61048448	C	T	GATA5	c.699+11G>A	NM_080473.5	NP_536721.1:p.?	NC_000020.10:g.61048448C>T	(Likely) benign	1 lab	57e210d595
15:73615057 HCN4 C>T	15	73615057	73615057	C	T	HCN4	c.3377G>A	NM_005477.3	NP_005468.1:p.(Ser1126Asn)	NC_000015.9:g.73615057C>T	VUS	1 lab	57e5c7d2aa
2:179623769 TTN C>T	2	179623769	179623769	C	T	TTN	c.10245G>A	NM_001267550.2	NP_001254479.2:p.(Thr3415=)	NC_000002.11:g.179623769C>T	(Likely) benign	1 lab	57ea185867
19:1218516 STK11 TGGGACC>T	19	1218516	1218523	TGGGACC	T	STK11	c.374+19_374+24del	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1218518_1218523del	(Likely) benign	1 lab	57eb07ff86
12:130898844 RIMBP2 G>A	12	130898844	130898844	G	A	RIMBP2	c.2478C>T	NM_015347.5	NP_056162.4:p.(Tyr826=)	NC_000012.11:g.130898844G>A	(Likely) benign	1 lab	57f03611cf
14:23884192 MYH7 C>G	14	23884192	23884192	C	G	MYH7	c.5559+12G>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23884192C>G	(Likely) benign	1 lab	57f6cc077d
6:64764328 EYS Ref too long to show for this DEL>T	6	64764328	64824454	Ref too long to show for this DEL	T	EYS	c.6425-32559_6725+11902del	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.64764329_64824454del	(Likely) pathogenic	1 lab	57f7fb18f9
1:216074234 USH2A C>G	1	216074234	216074234	C	G	USH2A	c.7314G>C	NM_206933.4	NP_996816.3:p.(Val2438=)	NC_000001.10:g.216074234C>G	(Likely) benign	1 lab	57f886ec29
11:6654303 DCHS1 A>G	11	6654303	6654303	A	G	DCHS1	c.2456-16T>C	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6654303A>G	(Likely) benign	1 lab	5801dec69d
X:31735183 DMD Ref too long to show for this DEL>G	X	31735183	31947969	Ref too long to show for this DEL	G	DMD	c.6763-105_7660+12564del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31735186_31947969del	(Likely) pathogenic	1 lab	58067ebee2
16:88495342 ZNF469 C>G	16	88495342	88495342	C	G	ZNF469	c.1464C>G	NM_001367624.2	NP_001354553.1:p.(Leu488=)	NC_000016.9:g.88495342C>G	(Likely) benign	1 lab	58078c6363
11:118015891 SCN4B T>C	11	118015891	118015891	T	C	SCN4B	c.115A>G	NM_174934.4	NP_777594.1:p.(Thr39Ala)	NC_000011.9:g.118015891T>C	VUS	1 lab	5809ae1a9a
1:3342603 PRDM16 G>A	1	3342603	3342603	G	A	PRDM16	c.3110-12G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342603G>A	(Likely) benign	1 lab	580d135689
19:33793007 CEBPA TCGC>T	19	33793007	33793026	TCGC	T	CEBPA	c.311_313del	NM_004364.5	NP_004355.2:p.(Gly104del)	NC_000019.9:g.33793024_33793026del	(Likely) benign	1 lab	580ee0d34d
16:920071 LMF1 C>T	16	920071	920071	C	T	LMF1	c.1233-5G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.920071C>T	VUS	1 lab	580f7c1be3
2:95542482 TEKT4 C>A	2	95542482	95542482	C	A	TEKT4	c.730C>A	NM_001286559.2	NP_001273488.1:p.(Pro244Thr)	NC_000002.11:g.95542482C>A	(Likely) benign	1 lab	580f9aa33b
15:23891941 MAGEL2 G>C	15	23891941	23891941	G	C	MAGEL2	c.949C>G	NM_019066.5	NP_061939.3:p.(Gln317Glu)	NC_000015.9:g.23891941G>C	(Likely) benign	1 lab	581b8bd93a
9:135206682 SETX A>G	9	135206682	135206682	A	G	SETX	c.992T>C	NM_015046.7	NP_055861.3:p.(Ile331Thr)	NC_000009.11:g.135206682A>G	VUS	1 lab	581cab9a04
10:46321527 AGAP4 G>A	10	46321527	46321527	G	A	AGAP4	c.1897C>T	NM_001276343.2	NP_001263272.2:p.(Arg633Cys)	NC_000010.10:g.46321527G>A	(Likely) benign	1 lab	581e65b257
7:95818883 SLC25A13 G>A	7	95818883	95818883	G	A	SLC25A13	c.848+10C>T	NM_014251.3	NP_055066.1:p.?	NC_000007.13:g.95818883G>A	(Likely) benign	1 lab	5820039276
10:97371146 ALDH18A1 G>A	10	97371146	97371146	G	A	ALDH18A1	c.1977C>T	NM_002860.4	NP_002851.2:p.(Ser659=)	NC_000010.10:g.97371146G>A	(Likely) benign	1 lab	582292c1a0
16:72821593 ZFHX3 AGCC>A	16	72821593	72821617	AGCC	A	ZFHX3	c.10579_10581del	NM_006885.4	NP_008816.3:p.(Gly3527del)	NC_000016.9:g.72821615_72821617del	(Likely) benign	1 lab	582752dd30
17:48263252 COL1A1 G>A	17	48263252	48263252	G	A	COL1A1	c.4135C>T	NM_000088.4	NP_000079.2:p.(Gln1379Ter)	NC_000017.10:g.48263252G>A	(Likely) pathogenic	1 lab	5827643498
1:186135389 HMCN1 C>T	1	186135389	186135389	C	T	HMCN1	c.15393C>T	NM_031935.3	NP_114141.2:p.(Ser5131=)	NC_000001.10:g.186135389C>T	(Likely) benign	1 lab	5827c7503d
20:10625365 JAG1 G>T	20	10625365	10625365	G	T	JAG1	c.2344+146C>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625365G>T	(Likely) benign	1 lab	5829bbfb3b
16:89352510 ANKRD11 G>C	16	89352510	89352510	G	C	ANKRD11	c.829C>G	NM_001256182.2	NP_001243111.1:p.(Pro277Ala)	NC_000016.9:g.89352510G>C	VUS	1 lab	58301065b0
22:46932788 CELSR1 C>T	22	46932788	46932788	C	T	CELSR1	c.280G>A	NM_001378328.1	NP_001365257.1:p.(Ala94Thr)	NC_000022.10:g.46932788C>T	(Likely) benign	1 lab	58303ebcbf
17:48272592 COL1A1 C>T	17	48272592	48272592	C	T	COL1A1	c.1299+1G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48272592C>T	(Likely) pathogenic	1 lab	58310618aa
22:20718909 MISSING Ref too long to show for this DEL>A	22	20718909	21505558	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.20718912_21505558del	(Likely) pathogenic	1 lab	58376bb3c5
9:139411736 NOTCH1 C>G	9	139411736	139411736	C	G	NOTCH1	c.1543G>C	NM_017617.5	NP_060087.3:p.(Glu515Gln)	NC_000009.11:g.139411736C>G	(Likely) benign	1 lab	583973f88a
16:67977914 LCAT G>A	16	67977914	67977914	G	A	LCAT	c.91C>T	NM_000229.2	NP_000220.1:p.(Leu31Phe)	NC_000016.9:g.67977914G>A	VUS	1 lab	583f6ea387
X:41048566 USP9X A>G	X	41048566	41048566	A	G	USP9X	c.3815A>G	NM_001039590.3	NP_001034679.2:p.(Asn1272Ser)	NC_000023.10:g.41048566A>G	VUS	1 lab	583fc25953
10:88428434 LDB3 G>A	10	88428434	88428434	G	A	LDB3	c.-15G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88428434G>A	(Likely) benign	1 lab	5844514535
7:128477589 FLNC C>T	7	128477589	128477589	C	T	FLNC	c.837C>T	NM_001458.5	NP_001449.3:p.(Ile279=)	NC_000007.13:g.128477589C>T	(Likely) benign	1 lab	584a27d017
19:50906486 POLD1 G>A	19	50906486	50906486	G	A	POLD1	c.1137+10G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50906486G>A	(Likely) benign	1 lab	58507c5fea
1:236924335 ACTN2 C>T	1	236924335	236924335	C	T	ACTN2	c.1764C>T	NM_001278344.2	NP_001265273.1:p.(Arg588=)	NC_000001.10:g.236924335C>T	(Likely) benign	1 lab	585acdef07
19:1222014 STK11 C>T	19	1222014	1222014	C	T	STK11	c.920+9C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222014C>T	VUS	1 lab	585b95d241
6:16141843 MYLIP C>T	6	16141843	16141843	C	T	MYLIP	c.279-13C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16141843C>T	(Likely) benign	1 lab	5860e40f13
4:100504985 MTTP G>A	4	100504985	100504985	G	A	MTTP	c.393+311G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504985G>A	(Likely) benign	1 lab	5865b7219e
12:996390 WNK1 C>T	12	996390	996390	C	T	WNK1	c.6064C>T	NM_001184985.2	NP_001171914.1:p.(Leu2022=)	NC_000012.11:g.996390C>T	(Likely) benign	1 lab	5867be36d1
10:25667057 GPR158 Ref too long to show for this DEL>A	10	25667057	25799324	Ref too long to show for this DEL	A	GPR158	c.1009-17780_1405-40581del	NM_020752.3	NP_065803.2:p.?	NC_000010.10:g.25667060_25799324del	VUS	1 lab	58698c5b75
8:59404114 CYP7A1 A>G	8	59404114	59404114	A	G	CYP7A1	c.1435T>C	NM_000780.4	NP_000771.2:p.(Leu479=)	NC_000008.10:g.59404114A>G	(Likely) benign	1 lab	5869afd5c8
9:2719038 KCNV2 G>A	9	2719038	2719038	G	A	KCNV2	c.1299G>A	NM_133497.4	NP_598004.1:p.(Glu433=)	NC_000009.11:g.2719038G>A	(Likely) benign	1 lab	586a098e5b
2:179554280 TTN G>C	2	179554280	179554280	G	C	TTN	c.31889C>G	NM_001267550.2	NP_001254479.2:p.(Thr10630Ser)	NC_000002.11:g.179554280G>C	VUS	1 lab	586a9da72d
18:77440256 CTDP1 C>T	18	77440256	77440256	C	T	CTDP1	c.309C>T	NM_004715.5	NP_004706.3:p.(Ala103=)	NC_000018.9:g.77440256C>T	(Likely) benign	1 lab	5873ddc25c
7:151970789 KMT2C C>T	7	151970789	151970789	C	T	KMT2C	c.1012+1G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151970789C>T	VUS	1 lab	587af82a03
X:18593605 CDKL5 G>T	X	18593605	18593605	G	T	CDKL5	c.277G>T	NM_003159.3	NP_003150.1:p.(Glu93Ter)	NC_000023.10:g.18593605G>T	(Likely) pathogenic	1 lab	587e021823
12:32949351 PKP2 C>T	12	32949351	32949351	C	T	PKP2	c.2300-119G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949351C>T	(Likely) benign	1 lab	5885454c15
X:70444093 GJB1 G>A	X	70444093	70444093	G	A	GJB1	c.536G>A	NM_000166.6	NP_000157.1:p.(Cys179Tyr)	NC_000023.10:g.70444093G>A	(Likely) pathogenic	1 lab	588d6d8568
9:79835177 VPS13A A>C	9	79835177	79835177	A	C	VPS13A	c.883-16A>C	NM_001018037.2	NP_001018047.1:p.?	NC_000009.11:g.79835177A>C	(Likely) benign	1 lab	588ffc41ef
1:66102233 LEPR G>A	1	66102233	66102233	G	A	LEPR	c.3033G>A	NM_002303.6	NP_002294.2:p.(Lys1011=)	NC_000001.10:g.66102233G>A	(Likely) benign	1 lab	5893adfd44
19:15311616 NOTCH3 G>A	19	15311616	15311616	G	A	NOTCH3	c.101C>T	NM_000435.3	NP_000426.2:p.(Ala34Val)	NC_000019.9:g.15311616G>A	(Likely) benign	1 lab	58945ac193
11:68154160 LRP5 C>T	11	68154160	68154160	C	T	LRP5	c.1392C>T	NM_002335.4	NP_002326.2:p.(Ile464=)	NC_000011.9:g.68154160C>T	(Likely) benign	1 lab	58a090f687
7:104753246 KMT2E A>C	7	104753246	104753246	A	C	KMT2E	c.5043A>C	NM_182931.3	NP_891847.1:p.(Pro1681=)	NC_000007.13:g.104753246A>C	(Likely) benign	1 lab	58a44219e7
3:46902246 MYL3 C>A	3	46902246	46902246	C	A	MYL3	c.227G>T	NM_000258.3	NP_000249.1:p.(Cys76Phe)	NC_000003.11:g.46902246C>A	VUS	1 lab	58b22c08c9
5:176637224 NSD1 A>G	5	176637224	176637224	A	G	NSD1	c.1824A>G	NM_022455.5	NP_071900.2:p.(Lys608=)	NC_000005.9:g.176637224A>G	(Likely) benign	1 lab	58b398d067
8:133622422 DNAAF11 CAGAT>C	8	133622422	133622426	CAGAT	C	DNAAF11	c.766_769del	NM_001321965.2	NP_001308894.1:p.(Ile256AlafsTer5)	NC_000008.10:g.133622423_133622426del	(Likely) pathogenic	1 lab	58b3cf99c9
5:149509363 PDGFRB G>A	5	149509363	149509363	G	A	PDGFRB	c.1536C>T	NM_002609.4	NP_002600.1:p.(Asn512=)	NC_000005.9:g.149509363G>A	(Likely) benign	1 lab	58b40a088b
7:590184 PRKAR1B C>A	7	590184	590184	C	A	PRKAR1B	c.1029G>T	NM_001164761.2	NP_001158233.1:p.(Gly343=)	NC_000007.13:g.590184C>A	(Likely) benign	1 lab	58b9136b30
10:54031259 PRKG1 C>G	10	54031259	54031259	C	G	PRKG1	c.1268+10C>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54031259C>G	(Likely) benign	1 lab	58bbe81448
1:55521907 PCSK9 GGGCGGA>G	1	55521907	55521915	GGGCGGA	G	PCSK9	c.996+48_996+53del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521910_55521915del	(Likely) benign	1 lab	58bd3998ef
15:85400473 ALPK3 C>T	15	85400473	85400473	C	T	ALPK3	c.2504C>T	NM_020778.5	NP_065829.4:p.(Pro835Leu)	NC_000015.9:g.85400473C>T	VUS	1 lab	58bfd8fd6e
6:152642381 SYNE1 G>A	6	152642381	152642381	G	A	SYNE1	c.16228C>T	NM_182961.4	NP_892006.3:p.(Arg5410Ter)	NC_000006.11:g.152642381G>A	(Likely) pathogenic	1 lab	58c2f15baf
5:13841167 DNAH5 T>A	5	13841167	13841167	T	A	DNAH5	c.5557A>T	NM_001369.3	NP_001360.1:p.(Lys1853Ter)	NC_000005.9:g.13841167T>A	(Likely) pathogenic	1 lab	58c6771d10
14:88434838 GALC G>GA	14	88434838	88434847	G	GA	GALC	c.753-5dup	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88434847dup	(Likely) benign	1 lab	58c7b3f7f8
15:48737626 FBN1 T>G	15	48737626	48737626	T	G	FBN1	c.5864A>C	NM_000138.5	NP_000129.3:p.(Gln1955Pro)	NC_000015.9:g.48737626T>G	(Likely) pathogenic	1 lab	58c965dc92
11:95657111 MTMR2 T>G	11	95657111	95657111	T	G	MTMR2	c.8A>C	NM_016156.6	NP_057240.3:p.(Lys3Thr)	NC_000011.9:g.95657111T>G	(Likely) benign	1 lab	58cdba1004
1:55529212 PCSK9 C>T	1	55529212	55529212	C	T	PCSK9	c.2034C>T	NM_174936.4	NP_777596.2:p.(Cys678=)	NC_000001.10:g.55529212C>T	(Likely) benign	1 lab	58ce2baab8
3:195512247 MUC4 A>G	3	195512247	195512247	A	G	MUC4	c.6204T>C	NM_018406.7	NP_060876.5:p.(Thr2068=)	NC_000003.11:g.195512247A>G	(Likely) benign	1 lab	58cf6e8206
19:55501420 NLRP2 G>A	19	55501420	55501420	G	A	NLRP2	c.2397G>A	NM_017852.5	NP_060322.1:p.(Gln799=)	NC_000019.9:g.55501420G>A	(Likely) benign	1 lab	58cffc25e7
X:70444087 GJB1 T>C	X	70444087	70444087	T	C	GJB1	c.530T>C	NM_000166.6	NP_000157.1:p.(Val177Ala)	NC_000023.10:g.70444087T>C	(Likely) pathogenic	1 lab	58d7902f40
X:70444033 GJB1 G>A	X	70444033	70444033	G	A	GJB1	c.476G>A	NM_000166.6	NP_000157.1:p.(Gly159Asp)	NC_000023.10:g.70444033G>A	(Likely) pathogenic	1 lab	58d9c63ed2
15:85406845 ALPK3 C>A	15	85406845	85406845	C	A	ALPK3	c.4473C>A	NM_020778.5	NP_065829.4:p.(Ala1491=)	NC_000015.9:g.85406845C>A	(Likely) benign	1 lab	58d9d3e779
16:1576636 IFT140 G>A	16	1576636	1576636	G	A	IFT140	c.2561C>T	NM_014714.4	NP_055529.2:p.(Thr854Met)	NC_000016.9:g.1576636G>A	(Likely) benign	1 lab	58dce324df
9:139390113 NOTCH1 G>T	9	139390113	139390113	G	T	NOTCH1	c.*410C>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139390113G>T	VUS	1 lab	58ddfa2217
19:1496355 REEP6 G>A	19	1496355	1496355	G	A	REEP6	c.420G>A	NM_001329556.3	NP_001316485.1:p.(Val140=)	NC_000019.9:g.1496355G>A	(Likely) benign	1 lab	58de6ba7da
5:95765012 PCSK1 G>C	5	95765012	95765012	G	C	PCSK1	c.190C>G	NM_000439.5	NP_000430.3:p.(Leu64Val)	NC_000005.9:g.95765012G>C	VUS	1 lab	58e7d6bda9
11:46338974 CREB3L1 C>T	11	46338974	46338974	C	T	CREB3L1	c.1194C>T	NM_052854.4	NP_443086.1:p.(Ser398=)	NC_000011.9:g.46338974C>T	(Likely) benign	1 lab	58ebfac6a1
2:179594860 TTN A>T	2	179594860	179594860	A	T	TTN	c.14535T>A	NM_133378.4	NP_596869.4:p.(Asp4845Glu)	NC_000002.11:g.179594860A>T	VUS	1 lab	58ed513a65
1:28276417 MISSING A>Alt too long to show for this DUP	1	28276417	28293684	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.28276418_28293684dup	VUS	1 lab	58ede84db4
19:49674931 TRPM4 CTGG>C	19	49674931	49674934	CTGG	C	TRPM4	c.956_958del	NM_017636.4	NP_060106.2:p.(Leu319_Ala320delinsPro)	NC_000019.9:g.49674932_49674934del	VUS	1 lab	58f378db13
2:168758996 MISSING Ref too long to show for this DEL>A	2	168758996	168831786	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.168759000_168831786del	VUS	1 lab	58f6a5e3ae
6:16144614 MYLIP T>C	6	16144614	16144614	T	C	MYLIP	c.828-514T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16144614T>C	(Likely) benign	1 lab	58fbd52d08
16:56996986 CETP G>A	16	56996986	56996986	G	A	CETP	c.183G>A	NM_000078.3	NP_000069.2:p.(Thr61=)	NC_000016.9:g.56996986G>A	(Likely) benign	1 lab	5900194b2d
3:24231753 THRB A>G	3	24231753	24231753	A	G	THRB	c.95T>C	NM_001252634.2	NP_001239563.1:p.(Met32Thr)	NC_000003.11:g.24231753A>G	VUS	1 lab	5902061e20
15:45407998 DUOXA2 G>A	15	45407998	45407998	G	A	DUOXA2	c.149G>A	NM_207581.4	NP_997464.2:p.(Arg50His)	NC_000015.9:g.45407998G>A	VUS	1 lab	5906a77734
7:55428930 MISSING Ref too long to show for this DEL>A	7	55428930	55468894	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.55428934_55468894del	VUS	1 lab	590afea843
9:139390816 NOTCH1 G>A	9	139390816	139390816	G	A	NOTCH1	c.7375C>T	NM_017617.5	NP_060087.3:p.(Gln2459Ter)	NC_000009.11:g.139390816G>A	VUS	1 lab	590ea75558
X:48371070 PORCN TA>T	X	48371070	48371071	TA	T	PORCN	c.437del	NM_001282167.2	NP_001269096.1:p.(Tyr146SerfsTer57)	NC_000023.10:g.48371071del	(Likely) pathogenic	1 lab	591040f894
2:132908528 MISSING Ref too long to show for this DEL>T	2	132908528	133021224	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.132908529_133021224del	VUS	1 lab	593810dd10
11:47370470 MYBPC3 T>TATATATATATATATATAGATATATATATATATATAG	11	47370470	47370479	T	TATATATATATATATATAGATATATATATATATATAG	MYBPC3	c.655-379_655-378insCTATATATATATATATATCTATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATAGATATATATATATATATAGATATATAT	(Likely) benign	1 lab	59132ce5bc
8:19796914 LPL C>G	8	19796914	19796914	C	G	LPL	c.-38C>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796914C>G	VUS	1 lab	5917bc7cee
16:67976625 LCAT C>T	16	67976625	67976625	C	T	LCAT	c.472G>A	NM_000229.2	NP_000220.1:p.(Val158Met)	NC_000016.9:g.67976625C>T	VUS	1 lab	591ba42b28
10:103717493 ARMH3 T>TA	10	103717493	103717508	T	TA	ARMH3	c.1496-5dup	NM_024541.3	NP_078817.2:p.?	NC_000010.10:g.103717508dup	(Likely) benign	1 lab	591fa9ca94
17:41258513 BRCA1 G>C	17	41258513	41258513	G	C	BRCA1	c.172C>G	NM_007294.4	NP_009225.1:p.(Pro58Ala)	NC_000017.10:g.41258513G>C	(Likely) benign	1 lab	5955da5c94
2:215593698 BARD1 A>T	2	215593698	215593698	A	T	BARD1	c.2036T>A	NM_000465.4	NP_000456.2:p.(Leu679Ter)	NC_000002.11:g.215593698A>T	(Likely) pathogenic	1 lab	5928ed280c
16:21576799 MISSING Ref too long to show for this DEL>A	16	21576799	21852932	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.21576802_21852932del	VUS	1 lab	59298efd30
10:71060515 HK1 C>G	10	71060515	71060515	C	G	HK1	c.-66-10C>G	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71060515C>G	(Likely) benign	1 lab	592b7e1e2e
16:921323 LMF1 C>T	16	921323	921323	C	T	LMF1	c.916G>A	NM_022773.4	NP_073610.2:p.(Gly306Arg)	NC_000016.9:g.921323C>T	VUS	1 lab	592e2544ef
2:21233884 APOB A>G	2	21233884	21233884	A	G	APOB	c.5856T>C	NM_000384.3	NP_000375.3:p.(His1952=)	NC_000002.11:g.21233884A>G	(Likely) benign	1 lab	592ebc52b3
19:11218096 LDLR C>A	19	11218096	11218096	C	A	LDLR	c.846C>A	NM_000527.5	NP_000518.1:p.(Phe282Leu)	NC_000019.9:g.11218096C>A	(Likely) pathogenic	1 lab	59309a3512
5:138208877 CTNNA1 C>T	5	138208877	138208877	C	T	CTNNA1	c.1063-13024C>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138208877C>T	(Likely) benign	1 lab	59321c42e2
2:110504318 MISSING Ref too long to show for this DEL>G	2	110504318	111365997	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.110504320_111365997del	(Likely) pathogenic	1 lab	5933bac0f8
18:77474684 CTDP1 C>T	18	77474684	77474684	C	T	CTDP1	c.1224C>T	NM_048368.4	NP_430255.2:p.(Pro408=)	NC_000018.9:g.77474684C>T	VUS	1 lab	59389143f4
11:108158428 ATM CTG>C	11	108158428	108158432	CTG	C	ATM	c.4098_4099del	NM_000051.4	NP_000042.3:p.(Cys1366Ter)	NC_000011.9:g.108158431_108158432del	(Likely) pathogenic	1 lab	59501f45d0
1:236988709 MTR C>A	1	236988709	236988709	C	A	MTR	c.927+10C>A	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236988709C>A	(Likely) benign	1 lab	595026e1a7
12:6702658 CHD4 C>T	12	6702658	6702658	C	T	CHD4	c.2438G>A	NM_001273.5	NP_001264.2:p.(Arg813His)	NC_000012.11:g.6702658C>T	VUS	1 lab	5950e18cfa
10:123267768 MISSING A>Alt too long to show for this DUP	10	123267768	123655757	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.123267770_123655757dup	VUS	1 lab	595de46544
2:1491745 TPO C>T	2	1491745	1491745	C	T	TPO	c.1750C>T	NM_001206744.2	NP_001193673.1:p.(Arg584Trp)	NC_000002.11:g.1491745C>T	(Likely) pathogenic	1 lab	5960fa3f87
19:11241855 LDLR TG>T	19	11241855	11241860	TG	T	LDLR	c.2548-97del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241860del	(Likely) benign	1 lab	5964c4e8ac
19:50918268 POLD1 C>T	19	50918268	50918268	C	T	POLD1	c.2564+21C>T	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50918268C>T	(Likely) benign	1 lab	5968f7da71
15:31220709 FAN1 TTG>T	15	31220709	31220743	TTG	T	FAN1	c.2489-14_2489-13del	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31220742_31220743del	VUS	1 lab	596bc83803
12:2778207 CACNA1C G>A	12	2778207	2778207	G	A	CACNA1C	c.4726+6G>A	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2778207G>A	(Likely) benign	1 lab	596d2ec0f4
2:189851686 COL3A1 T>C	2	189851686	189851686	T	C	COL3A1	c.448-99T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189851686T>C	(Likely) benign	1 lab	596d40aed7
6:16141919 MYLIP G>A	6	16141919	16141919	G	A	MYLIP	c.342G>A	NM_013262.4	NP_037394.2:p.(Glu114=)	NC_000006.11:g.16141919G>A	(Likely) benign	1 lab	596eae1087
8:19594090 MISSING T>Alt too long to show for this DUP	8	19594090	20187787	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.19594092_20187787dup	VUS	1 lab	5973c0165a
2:212703990 ERBB4 Ref too long to show for this DEL>C	2	212703990	212808626	Ref too long to show for this DEL	C	ERBB4	c.421+3533_422-51107del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212703995_212808626del	VUS	1 lab	59784a06eb
2:179418551 TTN CAATAA>C	2	179418551	179418561	CAATAA	C	TTN	c.89198-22_89198-18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179418557_179418561del	(Likely) benign	1 lab	597b7889fa
6:135751148 AHI1 T>C	6	135751148	135751148	T	C	AHI1	c.2374-10A>G	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135751148T>C	VUS	1 lab	597c6bdcda
6:90452997 MDN1 T>C	6	90452997	90452997	T	C	MDN1	c.4320A>G	NM_014611.3	NP_055426.1:p.(Glu1440=)	NC_000006.11:g.90452997T>C	(Likely) benign	1 lab	597ccfed9f
2:230670505 TRIP12 TC>T	2	230670505	230670507	TC	T	TRIP12	c.2509del	NM_001284214.2	NP_001271143.1:p.(Asp837ThrfsTer15)	NC_000002.11:g.230670507del	(Likely) pathogenic	1 lab	597facb777
15:58838066 LIPC A>G	15	58838066	58838066	A	G	LIPC	c.700A>G	NM_000236.3	NP_000227.2:p.(Ile234Val)	NC_000015.9:g.58838066A>G	VUS	1 lab	598531e3fc
2:179569911 TTN GTCTCT>G	2	179569911	179569919	GTCTCT	G	TTN	c.29589_29593del	NM_001267550.2	NP_001254479.2:p.(Glu9863AspfsTer3)	NC_000002.11:g.179569915_179569919del	(Likely) benign	1 lab	5991b9b81c
20:5294860 PROKR2 G>A	20	5294860	5294860	G	A	PROKR2	c.156C>T	NM_144773.4	NP_658986.1:p.(Ala52=)	NC_000020.10:g.5294860G>A	(Likely) benign	1 lab	59923135c6
12:125284757 SCARB1 G>A	12	125284757	125284757	G	A	SCARB1	c.1041C>T	NM_001367981.1	NP_001354910.1:p.(Phe347=)	NC_000012.11:g.125284757G>A	(Likely) benign	1 lab	5993079cd6
2:179641494 TTN T>G	2	179641494	179641494	T	G	TTN	c.5097A>C	NM_001267550.2	NP_001254479.2:p.(Lys1699Asn)	NC_000002.11:g.179641494T>G	VUS	1 lab	5993fb5add
12:88453691 CEP290 C>T	12	88453691	88453691	C	T	CEP290	c.6629G>A	NM_025114.4	NP_079390.3:p.(Arg2210His)	NC_000012.11:g.88453691C>T	(Likely) benign	1 lab	599c9b9b8c
9:123290141 CDK5RAP2 T>C	9	123290141	123290141	T	C	CDK5RAP2	c.942A>G	NM_018249.6	NP_060719.4:p.(Leu314=)	NC_000009.11:g.123290141T>C	(Likely) benign	1 lab	599f43fe91
2:1670035 PXDN C>T	2	1670035	1670035	C	T	PXDN	c.1242G>A	NM_012293.3	NP_036425.1:p.(Ala414=)	NC_000002.11:g.1670035C>T	(Likely) benign	1 lab	59a17d5291
19:48343243 CRX C>T	19	48343243	48343243	C	T	CRX	c.*19C>T	NM_000554.6	NP_000545.1:p.?	NC_000019.9:g.48343243C>T	(Likely) benign	1 lab	59a8f3ba41
8:145858130 MISSING G>Alt too long to show for this DUP	8	145858130	146061830	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145858131_146061830dup	VUS	1 lab	59a988963a
10:68496806 CTNNA3 Ref too long to show for this DEL>A	10	68496806	68575363	Ref too long to show for this DEL	A	CTNNA3	c.1048-40081_1281+29215del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68496807_68575363del	VUS	1 lab	59adde6b7d
11:63400493 ATL3 C>T	11	63400493	63400493	C	T	ATL3	c.1107+5G>A	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63400493C>T	(Likely) benign	1 lab	59b1235f05
6:10802308 MAK A>G	6	10802308	10802308	A	G	MAK	c.664-16T>C	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10802308A>G	(Likely) benign	1 lab	59b1749c81
9:101907279 TGFBR1 A>G	9	101907279	101907279	A	G	TGFBR1	c.1130+109A>G	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101907279A>G	(Likely) benign	1 lab	59b612b829
2:21229394 APOB T>G	2	21229394	21229394	T	G	APOB	c.10346A>C	NM_000384.3	NP_000375.3:p.(Lys3449Thr)	NC_000002.11:g.21229394T>G	(Likely) pathogenic	1 lab	59b67d7310
13:32937593 BRCA2 ATTC>A	13	32937593	32937599	ATTC	A	BRCA2	c.8258_8260del	NM_000059.4	NP_000050.3:p.(Leu2753del)	NC_000013.10:g.32937597_32937599del	VUS	1 lab	59b9e305a7
1:6511657 ESPN G>A	1	6511657	6511657	G	A	ESPN	c.1916-6G>A	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6511657G>A	(Likely) benign	1 lab	59bb45ad36
15:72057367 THSD4 C>T	15	72057367	72057367	C	T	THSD4	c.2598C>T	NM_024817.2	NP_079093.2:p.(Ile866=)	NC_000015.9:g.72057367C>T	(Likely) benign	1 lab	59c209a35d
12:11214495 TAS2R46 T>C	12	11214495	11214495	T	C	TAS2R46	c.399A>G	NM_176887.2	NP_795368.2:p.(Leu133=)	NC_000012.11:g.11214495T>C	(Likely) benign	1 lab	59c6f858ec
6:33408547 SYNGAP1 G>A	6	33408547	33408547	G	A	SYNGAP1	c.1718G>A	NM_006772.3	NP_006763.2:p.(Arg573Gln)	NC_000006.11:g.33408547G>A	(Likely) pathogenic	1 lab	59cc6b686c
12:124330532 DNAH10 G>A	12	124330532	124330532	G	A	DNAH10	c.5291G>A	NM_207437.3	NP_997320.2:p.(Arg1764Gln)	NC_000012.11:g.124330532G>A	(Likely) benign	1 lab	59ce7ed91d
Y:9304636 TSPY1 C>T	Y	9304636	9304636	C	T	TSPY1	c.27C>T	NM_001197242.2	NP_001184171.1:p.(Tyr9=)	NC_000024.9:g.9304636C>T	(Likely) benign	1 lab	59d19a303f
7:128481928 FLNC C>G	7	128481928	128481928	C	G	FLNC	c.2121+307C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128481928C>G	(Likely) benign	1 lab	59d6aab8a5
7:103230208 RELN G>C	7	103230208	103230208	G	C	RELN	c.3980C>G	NM_005045.4	NP_005036.2:p.(Ala1327Gly)	NC_000007.13:g.103230208G>C	VUS	1 lab	59df2d0df1
1:227076673 PSEN2 C>T	1	227076673	227076673	C	T	PSEN2	c.710C>T	NM_000447.3	NP_000438.2:p.(Ala237Val)	NC_000001.10:g.227076673C>T	VUS	1 lab	59e0f02354
16:67976691 LCAT C>T	16	67976691	67976691	C	T	LCAT	c.428-22G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976691C>T	(Likely) benign	1 lab	59e3833c74
16:921384 LMF1 G>A	16	921384	921384	G	A	LMF1	c.898-43C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921384G>A	(Likely) benign	1 lab	59e48f08f3
22:39627654 PDGFB G>A	22	39627654	39627654	G	A	PDGFB	c.429C>T	NM_002608.4	NP_002599.1:p.(Pro143=)	NC_000022.10:g.39627654G>A	(Likely) benign	1 lab	59efe9a3e8
18:25616449 CDH2 A>T	18	25616449	25616449	A	T	CDH2	c.173-22576T>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25616449A>T	(Likely) benign	1 lab	59f3c6fba5
13:39527201 MISSING Ref too long to show for this DEL>C	13	39527201	39541064	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.39527202_39541064del	VUS	1 lab	59fa298711
1:40769588 COL9A2 C>T	1	40769588	40769588	C	T	COL9A2	c.1368+12G>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40769588C>T	(Likely) benign	1 lab	59fbfc3975
7:151064999 MISSING Ref too long to show for this DEL>G	7	151064999	151085362	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.151065001_151085362del	(Likely) pathogenic	1 lab	5a03cb77f2
X:70760967 MISSING T>Alt too long to show for this DUP	X	70760967	70807347	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.70760968_70807347dup	VUS	1 lab	5a082c5cf0
2:111388617 MISSING Ref too long to show for this DEL>A	2	111388617	111446525	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.111388622_111446525del	VUS	1 lab	5a0e8fa56c
2:21235773 APOB A>C	2	21235773	21235773	A	C	APOB	c.4217-250T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235773A>C	(Likely) benign	1 lab	5a0f6191bd
17:10428127 MYH2 G>A	17	10428127	10428127	G	A	MYH2	c.4918C>T	NM_001100112.2	NP_001093582.1:p.(Arg1640Cys)	NC_000017.10:g.10428127G>A	VUS	1 lab	5a123a1bd2
1:177930867 SEC16B T>C	1	177930867	177930867	T	C	SEC16B	c.645A>G	NM_033127.4	NP_149118.2:p.(Pro215=)	NC_000001.10:g.177930867T>C	(Likely) benign	1 lab	5a1279152f
12:104378701 TDG A>ATGCAAAGAAGATGGC	12	104378701	104378704	A	ATGCAAAGAAGATGGC	TDG	c.964+5_964+6insCAAAGAAGATGGCTG	NM_003211.6	NP_003202.3:p.?	NC_000012.11:g.104378703_104378704insCAAAGAAGATGGCTG	(Likely) benign	1 lab	5a14e307f7
6:56391227 DST G>T	6	56391227	56391227	G	T	DST	c.11704C>A	NM_001144769.5	NP_001138241.1:p.(Arg3902=)	NC_000006.11:g.56391227G>T	(Likely) benign	1 lab	5a1ec613d0
11:65325110 LTBP3 G>A	11	65325110	65325110	G	A	LTBP3	c.321C>T	NM_001130144.3	NP_001123616.1:p.(Gly107=)	NC_000011.9:g.65325110G>A	(Likely) benign	1 lab	5a21f0f98e
7:151269776 PRKAG2 T>A	7	151269776	151269776	T	A	PRKAG2	c.1025A>T	NM_016203.4	NP_057287.2:p.(Glu342Val)	NC_000007.13:g.151269776T>A	(Likely) pathogenic	1 lab	5a30a6033d
1:215933200 USH2A G>A	1	215933200	215933200	G	A	USH2A	c.11048-15C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215933200G>A	(Likely) benign	1 lab	5a3417c052
16:9000414 USP7 G>T	16	9000414	9000414	G	T	USP7	c.1297C>A	NM_003470.3	NP_003461.2:p.(Leu433Ile)	NC_000016.9:g.9000414G>T	VUS	1 lab	5a39075489
6:32609236 HLA-DQA1 G>A	6	32609236	32609236	G	A	HLA-DQA1	c.232G>A	NM_002122.5	NP_002113.2:p.(Gly78Arg)	NC_000006.11:g.32609236G>A	(Likely) benign	1 lab	5a3a251ba0
1:55523038 PCSK9 A>G	1	55523038	55523038	A	G	PCSK9	c.1031A>G	NM_174936.4	NP_777596.2:p.(Gln344Arg)	NC_000001.10:g.55523038A>G	VUS	1 lab	5a3fb540a2
6:16142032 MYLIP C>T	6	16142032	16142032	C	T	MYLIP	c.455C>T	NM_013262.4	NP_037394.2:p.(Thr152Ile)	NC_000006.11:g.16142032C>T	VUS	1 lab	5a43a7a496
15:58838122 LIPC T>C	15	58838122	58838122	T	C	LIPC	c.756T>C	NM_000236.3	NP_000227.2:p.(Pro252=)	NC_000015.9:g.58838122T>C	(Likely) benign	1 lab	5a4488181f
1:12033045 PLOD1 G>C	1	12033045	12033045	G	C	PLOD1	c.2019G>C	NM_000302.4	NP_000293.2:p.(Val673=)	NC_000001.10:g.12033045G>C	(Likely) benign	1 lab	5a46f60dc5
19:11231210 LDLR G>A	19	11231210	11231210	G	A	LDLR	c.2140+12G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231210G>A	(Likely) benign	1 lab	5a4729b26a
11:13004324 MISSING Ref too long to show for this DEL>A	11	13004324	13034040	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.13004325_13034040del	VUS	1 lab	5a4a5824f8
1:66102158 LEPR C>G	1	66102158	66102158	C	G	LEPR	c.2958C>G	NM_002303.6	NP_002294.2:p.(Tyr986Ter)	NC_000001.10:g.66102158C>G	(Likely) pathogenic	1 lab	5a4eeb49b5
19:11213374 LDLR T>TG	19	11213374	11213379	T	TG	LDLR	c.230dup	NM_000527.5	NP_000518.1:p.(Arg78ProfsTer52)	NC_000019.9:g.11213379dup	(Likely) pathogenic	1 lab	5a5214250d
12:76740328 BBS10 T>C	12	76740328	76740328	T	C	BBS10	c.1437A>G	NM_024685.4	NP_078961.3:p.(Ala479=)	NC_000012.11:g.76740328T>C	(Likely) benign	1 lab	5a55524a36
5:138163423 CTNNA1 T>C	5	138163423	138163423	T	C	CTNNA1	c.1062+16T>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138163423T>C	VUS	1 lab	5a56a80435
14:23882953 MYH7 A>C	14	23882953	23882953	A	C	MYH7	c.5790+15T>G	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23882953A>C	(Likely) benign	1 lab	5a56aba56f
11:47358040 MYBPC3 CAAAA>C	11	47358040	47358064	CAAAA	C	MYBPC3	c.2603-482_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358061_47358064del	(Likely) benign	1 lab	5a56bb94f7
12:49372856 WNT1 G>A	12	49372856	49372856	G	A	WNT1	c.104+319G>A	NM_005430.4	NP_005421.1:p.?	NC_000012.11:g.49372856G>A	(Likely) benign	1 lab	5a5d2f5f80
12:48381032 COL2A1 AG>A	12	48381032	48381033	AG	A	COL2A1	c.1266+19del	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48381033del	(Likely) benign	1 lab	5a61164644
17:57288541 SMG8 A>C	17	57288541	57288541	A	C	SMG8	c.1129A>C	NM_018149.7	NP_060619.4:p.(Arg377=)	NC_000017.10:g.57288541A>C	(Likely) benign	1 lab	5a62eb5007
11:75511465 DGAT2 C>T	11	75511465	75511465	C	T	DGAT2	c.1079C>T	NM_032564.5	NP_115953.2:p.(Thr360Ile)	NC_000011.9:g.75511465C>T	(Likely) benign	1 lab	5a67656150
16:49889665 ZNF423 C>T	16	49889665	49889665	C	T	ZNF423	c.21G>A	NM_001379286.1	NP_001366215.1:p.(Ala7=)	NC_000016.9:g.49889665C>T	(Likely) benign	1 lab	5a68b3adaf
15:48712782 FBN1 T>C	15	48712782	48712782	T	C	FBN1	c.7819+102A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48712782T>C	(Likely) benign	1 lab	5a69f94acc
20:42788358 JPH2 G>A	20	42788358	42788358	G	A	JPH2	c.1069C>T	NM_020433.5	NP_065166.2:p.(Leu357Phe)	NC_000020.10:g.42788358G>A	VUS	1 lab	5a6eaac299
2:179445058 TTN T>G	2	179445058	179445058	T	G	TTN	c.67048A>C	NM_001267550.2	NP_001254479.2:p.(Lys22350Gln)	NC_000002.11:g.179445058T>G	VUS	1 lab	5a715cff66
15:77059294 SCAPER TATC>T	15	77059294	77059299	TATC	T	SCAPER	c.1399_1401del	NM_001353009.2	NP_001339938.1:p.(Asp467del)	NC_000015.9:g.77059297_77059299del	VUS	1 lab	5a7631e475
2:179455780 TTN G>A	2	179455780	179455780	G	A	TTN	c.60672C>T	NM_001267550.2	NP_001254479.2:p.(Ser20224=)	NC_000002.11:g.179455780G>A	(Likely) benign	1 lab	5a8055d299
15:58840754 LIPC C>A	15	58840754	58840754	C	A	LIPC	c.1034C>A	NM_000236.3	NP_000227.2:p.(Ala345Asp)	NC_000015.9:g.58840754C>A	VUS	1 lab	5a8697d7f9
2:179511767 TTN G>GTATATA	2	179511767	179511789	G	GTATATA	TTN	c.40222+18_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511784_179511789dup	(Likely) benign	1 lab	5a8bcfcf77
11:47356336 MYBPC3 A>T	11	47356336	47356336	A	T	MYBPC3	c.2905+257T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356336A>T	(Likely) benign	1 lab	5a8d8e27db
11:116703551 APOC3 T>C	11	116703551	116703551	T	C	APOC3	c.251T>C	NM_000040.3	NP_000031.1:p.(Phe84Ser)	NC_000011.9:g.116703551T>C	(Likely) pathogenic	1 lab	5a8e07ff95
12:89814934 POC1B C>T	12	89814934	89814934	C	T	POC1B	c.1433G>A	NM_172240.3	NP_758440.1:p.(Ser478Asn)	NC_000012.11:g.89814934C>T	(Likely) benign	1 lab	5a963bcb2f
7:128486941 FLNC G>A	7	128486941	128486941	G	A	FLNC	c.4270G>A	NM_001458.5	NP_001449.3:p.(Gly1424Arg)	NC_000007.13:g.128486941G>A	VUS	1 lab	5a99290304
2:179605907 TTN C>T	2	179605907	179605907	C	T	TTN	c.12053G>A	NM_001267550.2	NP_001254479.2:p.(Gly4018Asp)	NC_000002.11:g.179605907C>T	VUS	1 lab	5a997ca233
16:70998745 HYDIN G>A	16	70998745	70998745	G	A	HYDIN	c.5674C>T	NM_001270974.2	NP_001257903.1:p.(Arg1892Cys)	NC_000016.9:g.70998745G>A	VUS	1 lab	5a9b76642b
16:23652447 PALB2 C>T	16	23652447	23652447	C	T	PALB2	c.32G>A	NM_024675.4	NP_078951.2:p.(Cys11Tyr)	NC_000016.9:g.23652447C>T	(Likely) benign	1 lab	5aa0e2cf5b
15:58840759 LIPC TC>T	15	58840759	58840764	TC	T	LIPC	c.1044del	NM_000236.3	NP_000227.2:p.(Phe349SerfsTer65)	NC_000015.9:g.58840764del	VUS	1 lab	5aa23da0a0
4:149075976 NR3C2 T>G	4	149075976	149075976	T	G	NR3C2	c.2091A>C	NM_000901.5	NP_000892.2:p.(Pro697=)	NC_000004.11:g.149075976T>G	(Likely) benign	1 lab	5aa5df756f
1:10386320 KIF1B G>A	1	10386320	10386320	G	A	KIF1B	c.2689G>A	NM_015074.3	NP_055889.2:p.(Ala897Thr)	NC_000001.10:g.10386320G>A	VUS	1 lab	5aa9b51102
2:241660378 KIF1A G>A	2	241660378	241660378	G	A	KIF1A	c.4821C>T	NM_001244008.2	NP_001230937.1:p.(Ser1607=)	NC_000002.11:g.241660378G>A	(Likely) benign	1 lab	5aaebf0179
6:156946893 MISSING T>Alt too long to show for this DUP	6	156946893	157103518	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.156946894_157103518dup	VUS	1 lab	5abc6659d8
17:38249513 NR1D1 G>A	17	38249513	38249513	G	A	NR1D1	c.1668C>T	NM_021724.5	NP_068370.1:p.(Ser556=)	NC_000017.10:g.38249513G>A	(Likely) benign	1 lab	5abd854204
1:173833993 MISSING Ref too long to show for this DEL>T	1	173833993	173855208	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.173833994_173855208del	VUS	1 lab	5ac11cb2ca
14:45645820 FANCM A>G	14	45645820	45645820	A	G	FANCM	c.3863A>G	NM_020937.4	NP_065988.1:p.(Asn1288Ser)	NC_000014.8:g.45645820A>G	(Likely) benign	1 lab	5ac190fed5
5:178549719 ADAMTS2 G>A	5	178549719	178549719	G	A	ADAMTS2	c.3014C>T	NM_014244.5	NP_055059.2:p.(Ala1005Val)	NC_000005.9:g.178549719G>A	(Likely) benign	1 lab	5ac2cda0cf
2:189873489 COL3A1 G>T	2	189873489	189873489	G	T	COL3A1	c.3526-161G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189873489G>T	(Likely) benign	1 lab	5ac8ecef21
21:44478097 CBS TACCTGTTTGAGCTGCCTGTAGGTGACCGCTC>T	21	44478097	44478157	TACCTGTTTGAGCTGCCTGTAGGTGACCGCTC	T	CBS	c.1467+127_1467+157del	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44478127_44478157del	(Likely) benign	1 lab	5acba20563
12:57892042 MARS1 C>T	12	57892042	57892042	C	T	MARS1	c.873C>T	NM_004990.4	NP_004981.2:p.(Ala291=)	NC_000012.11:g.57892042C>T	(Likely) benign	1 lab	5acfcb484c
19:11231181 LDLR TGAG>T	19	11231181	11231187	TGAG	T	LDLR	c.2127_2129del	NM_000527.5	NP_000518.1:p.(Arg709del)	NC_000019.9:g.11231185_11231187del	(Likely) pathogenic	1 lab	5ad0522d3c
1:39917966 MACF1 A>G	1	39917966	39917966	A	G	MACF1	c.14380A>G	NM_012090.5	NP_036222.3:p.(Thr4794Ala)	NC_000001.10:g.39917966A>G	VUS	1 lab	5ad529b485
1:55521697 PCSK9 C>G	1	55521697	55521697	C	G	PCSK9	c.831C>G	NM_174936.4	NP_777596.2:p.(Val277=)	NC_000001.10:g.55521697C>G	(Likely) benign	1 lab	5ade286d5f
19:42729848 ZNF526 T>C	19	42729848	42729848	T	C	ZNF526	c.1293T>C	NM_133444.3	NP_597701.1:p.(Pro431=)	NC_000019.9:g.42729848T>C	(Likely) benign	1 lab	5ae0d5539a
16:57937739 CNGB1 C>T	16	57937739	57937739	C	T	CNGB1	c.2781G>A	NM_001297.5	NP_001288.3:p.(Ser927=)	NC_000016.9:g.57937739C>T	(Likely) benign	1 lab	5af78c0189
9:117240954 WHRN G>A	9	117240954	117240954	G	A	WHRN	c.716C>T	NM_015404.4	NP_056219.3:p.(Pro239Leu)	NC_000009.11:g.117240954G>A	VUS	1 lab	5af7f3e9f2
9:130587618 ENG C>T	9	130587618	130587618	C	T	ENG	c.708G>A	NM_001114753.3	NP_001108225.1:p.(Val236=)	NC_000009.11:g.130587618C>T	(Likely) benign	1 lab	5af96d6074
3:396360 CHL1 G>A	3	396360	396360	G	A	CHL1	c.1023G>A	NM_001253387.2	NP_001240316.1:p.(Val341=)	NC_000003.11:g.396360G>A	(Likely) benign	1 lab	5afa021e1b
1:25889626 LDLRAP1 A>AC	1	25889626	25889631	A	AC	LDLRAP1	c.603dup	NM_015627.3	NP_056442.2:p.(Ser202LeufsTer19)	NC_000001.10:g.25889631dup	(Likely) pathogenic	1 lab	5afa67a018
8:144295764 GPIHBP1 G>T	8	144295764	144295764	G	T	GPIHBP1	c.120G>T	NM_178172.6	NP_835466.2:p.(Glu40Asp)	NC_000008.10:g.144295764G>T	(Likely) benign	1 lab	5afc115aaa
16:1001966 LMF1 C>T	16	1001966	1001966	C	T	LMF1	c.-52+2391G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1001966C>T	(Likely) benign	1 lab	5aff150bc7
2:21225617 APOB G>A	2	21225617	21225617	G	A	APOB	c.12677C>T	NM_000384.3	NP_000375.3:p.(Thr4226Met)	NC_000002.11:g.21225617G>A	VUS	1 lab	5b05a64f33
16:89346212 ANKRD11 T>TG	16	89346212	89346217	T	TG	ANKRD11	c.6737dup	NM_001256182.2	NP_001243111.1:p.(Glu2247ArgfsTer13)	NC_000016.9:g.89346217dup	(Likely) pathogenic	1 lab	5b05e31287
15:80460591 FAH C>T	15	80460591	80460591	C	T	FAH	c.554-15C>T	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80460591C>T	(Likely) benign	1 lab	5bc5fc1a4b
16:53167047 CHD9 C>Alt too long to show for this DUP	16	53167047	53250169	C	Alt too long to show for this DUP	CHD9	c.-164-22790_1785-6387dup	NM_001308319.2	NP_001295248.1:p.?	NC_000016.9:g.53167048_53250169dup	VUS	1 lab	5b08521bf0
20:57470704 GNAS G>C	20	57470704	57470704	G	C	GNAS	c.2106G>C	NM_080425.4	NP_536350.2:p.(Gln702His)	NC_000020.10:g.57470704G>C	VUS	1 lab	5b0c2998e0
5:178562967 ADAMTS2 G>A	5	178562967	178562967	G	A	ADAMTS2	c.2028C>T	NM_014244.5	NP_055059.2:p.(Asp676=)	NC_000005.9:g.178562967G>A	(Likely) benign	1 lab	5b0d32bc75
8:59409598 CYP7A1 G>A	8	59409598	59409598	G	A	CYP7A1	c.473C>T	NM_000780.4	NP_000771.2:p.(Ser158Phe)	NC_000008.10:g.59409598G>A	VUS	1 lab	5b16709f05
8:55533950 RP1 G>T	8	55533950	55533950	G	T	RP1	c.424G>T	NM_006269.2	NP_006260.1:p.(Val142Leu)	NC_000008.10:g.55533950G>T	(Likely) benign	1 lab	5b17028f4c
10:11911727 PROSER2 C>T	10	11911727	11911727	C	T	PROSER2	c.630C>T	NM_153256.4	NP_694988.3:p.(Ala210=)	NC_000010.10:g.11911727C>T	(Likely) benign	1 lab	5b1b31c08b
2:113877649 IL1RN T>A	2	113877649	113877649	T	A	IL1RN	c.17T>A	NM_173841.3	NP_776213.1:p.(Leu6Ter)	NC_000002.11:g.113877649T>A	VUS	1 lab	5b217d9bb1
16:11647544 LITAF A>G	16	11647544	11647544	A	G	LITAF	c.222T>C	NM_004862.4	NP_004853.2:p.(Ile74=)	NC_000016.9:g.11647544A>G	(Likely) benign	1 lab	5b2818a345
2:219678812 CYP27A1 C>T	2	219678812	219678812	C	T	CYP27A1	c.1086C>T	NM_000784.4	NP_000775.1:p.(His362=)	NC_000002.11:g.219678812C>T	(Likely) benign	1 lab	5b2d9f6839
X:153881773 CTAG2 T>C	X	153881773	153881773	T	C	CTAG2	c.17=	NM_020994.5	NP_066274.2:p.(Arg6=)	NC_000023.10:g.153881773T>C	(Likely) benign	1 lab	5b2ea465d1
12:125298934 SCARB1 C>G	12	125298934	125298934	C	G	SCARB1	c.444G>C	NM_005505.5	NP_005496.4:p.(Met148Ile)	NC_000012.11:g.125298934C>G	VUS	1 lab	5b3c098e73
12:33021950 PKP2 C>G	12	33021950	33021950	C	G	PKP2	c.1081G>C	NM_004572.4	NP_004563.2:p.(Glu361Gln)	NC_000012.11:g.33021950C>G	VUS	1 lab	5b3cfe13cd
7:81579718 CACNA2D1 C>A	7	81579718	81579718	C	A	CACNA2D1	c.3266G>T	NM_000722.4	NP_000713.2:p.(Arg1089Leu)	NC_000007.13:g.81579718C>A	VUS	1 lab	5b3e77a67b
12:22735445 MISSING Ref too long to show for this DEL>A	12	22735445	22804543	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.22735446_22804543del	VUS	1 lab	5b446f8fa2
9:107581179 ABCA1 CACAAGGATGTGGG>C	9	107581179	107581195	CACAAGGATGTGGG	C	ABCA1	c.3242-28_3242-16del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107581183_107581195del	(Likely) benign	1 lab	5b468245be
10:77191528 LRMDA C>T	10	77191528	77191528	C	T	LRMDA	c.30+16C>T	NM_001305581.2	NP_001292510.1:p.?	NC_000010.10:g.77191528C>T	(Likely) benign	1 lab	5b46e0558c
2:179408730 TTN C>A	2	179408730	179408730	C	A	TTN	c.96141G>T	NM_001267550.2	NP_001254479.2:p.(Thr32047=)	NC_000002.11:g.179408730C>A	(Likely) benign	1 lab	5b4a47ae69
18:47093706 LIPG CA>C	18	47093706	47093718	CA	C	LIPG	c.280-94del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47093718del	(Likely) benign	1 lab	5b4ddf72d0
7:128396327 MISSING C>Alt too long to show for this DUP	7	128396327	128418613	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.128396330_128418613dup	VUS	1 lab	5b51a7c698
5:33944828 SLC45A2 G>A	5	33944828	33944828	G	A	SLC45A2	c.1518C>T	NM_016180.5	NP_057264.4:p.(Val506=)	NC_000005.9:g.33944828G>A	(Likely) benign	1 lab	5b51cc785d
X:38145239 RPGR CCT>C	X	38145239	38145244	CCT	C	RPGR	c.3011_3012del	NM_001034853.2	NP_001030025.1:p.(Glu1004GlyfsTer74)	NC_000023.10:g.38145243_38145244del	(Likely) pathogenic	1 lab	5b54837727
17:75398498 SEPTIN9 C>T	17	75398498	75398498	C	T	SEPTIN9	c.380C>T	NM_006640.5	NP_006631.2:p.(Pro127Leu)	NC_000017.10:g.75398498C>T	(Likely) benign	1 lab	5b603f3941
X:15349528 PIGA A>G	X	15349528	15349528	A	G	PIGA	c.525T>C	NM_002641.4	NP_002632.1:p.(Leu175=)	NC_000023.10:g.15349528A>G	(Likely) benign	1 lab	5b67218da2
16:984464 LMF1 A>T	16	984464	984464	A	T	LMF1	c.-51-210T>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.984464A>T	(Likely) benign	1 lab	5b697208f8
9:107594897 ABCA1 G>A	9	107594897	107594897	G	A	ABCA1	c.1467C>T	NM_005502.4	NP_005493.2:p.(Asn489=)	NC_000009.11:g.107594897G>A	(Likely) benign	1 lab	5b6d9badd8
3:132440967 NPHP3 C>A	3	132440967	132440967	C	A	NPHP3	c.233G>T	NM_153240.5	NP_694972.3:p.(Gly78Val)	NC_000003.11:g.132440967C>A	VUS	1 lab	5b7875b6ed
2:179468873 TTN C>A	2	179468873	179468873	C	A	TTN	c.54541G>T	NM_001267550.2	NP_001254479.2:p.(Gly18181Ter)	NC_000002.11:g.179468873C>A	(Likely) pathogenic	1 lab	5b793e665c
2:44098855 ABCG8 T>C	2	44098855	44098855	T	C	ABCG8	c.965-260T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44098855T>C	(Likely) benign	1 lab	5b79f71ba0
22:51064573 ARSA C>T	22	51064573	51064573	C	T	ARSA	c.979+9G>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51064573C>T	(Likely) benign	1 lab	5b7c17bf89
4:39924372 PDS5A TAA>T	4	39924372	39924388	TAA	T	PDS5A	c.528-6_528-5del	NM_001100399.2	NP_001093869.1:p.?	NC_000004.11:g.39924387_39924388del	(Likely) benign	1 lab	5b838df345
15:83808031 HDGFL3 TAA>T	15	83808031	83808045	TAA	T	HDGFL3	c.607-6_607-5del	NM_016073.4	NP_057157.1:p.?	NC_000015.9:g.83808044_83808045del	(Likely) benign	1 lab	5b83ba0cb0
1:78395038 NEXN T>A	1	78395038	78395038	T	A	NEXN	c.902T>A	NM_144573.4	NP_653174.3:p.(Ile301Asn)	NC_000001.10:g.78395038T>A	VUS	1 lab	5b84e0aafb
6:75848334 COL12A1 T>C	6	75848334	75848334	T	C	COL12A1	c.5098-38A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75848334T>C	VUS	1 lab	5b89914864
2:21242758 APOB A>G	2	21242758	21242758	A	G	APOB	c.2836T>C	NM_000384.3	NP_000375.3:p.(Ser946Pro)	NC_000002.11:g.21242758A>G	VUS	1 lab	5b8e36aa3f
7:128492907 FLNC C>T	7	128492907	128492907	C	T	FLNC	c.6030C>T	NM_001458.5	NP_001449.3:p.(Val2010=)	NC_000007.13:g.128492907C>T	(Likely) benign	1 lab	5b8fd09617
2:179547942 TTN G>C	2	179547942	179547942	G	C	TTN	c.32883C>G	NM_001267550.2	NP_001254479.2:p.(Ile10961Met)	NC_000002.11:g.179547942G>C	VUS	1 lab	5b90c68ba1
19:15290283 NOTCH3 T>A	19	15290283	15290283	T	A	NOTCH3	c.3352A>T	NM_000435.3	NP_000426.2:p.(Asn1118Tyr)	NC_000019.9:g.15290283T>A	(Likely) benign	1 lab	5b94920bce
9:133342093 ASS1 C>T	9	133342093	133342093	C	T	ASS1	c.421-19C>T	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133342093C>T	(Likely) benign	1 lab	5b98978a65
9:12695566 TYRP1 G>A	9	12695566	12695566	G	A	TYRP1	c.437G>A	NM_000550.3	NP_000541.1:p.(Arg146Gln)	NC_000009.11:g.12695566G>A	(Likely) benign	1 lab	5b99f72093
16:50828350 CYLD C>T	16	50828350	50828350	C	T	CYLD	c.2686+11C>T	NM_015247.3	NP_056062.1:p.?	NC_000016.9:g.50828350C>T	(Likely) benign	1 lab	5b9d8028db
2:150433001 MMADHC C>A	2	150433001	150433001	C	A	MMADHC	c.428G>T	NM_015702.3	NP_056517.1:p.(Ser143Ile)	NC_000002.11:g.150433001C>A	(Likely) benign	1 lab	5ba0e355cb
16:69985339 CLEC18A G>A	16	69985339	69985339	G	A	CLEC18A	c.70G>A	NM_182619.4	NP_872425.2:p.(Ala24Thr)	NC_000016.9:g.69985339G>A	(Likely) benign	1 lab	5ba1b8eead
14:45645877 FANCM A>G	14	45645877	45645877	A	G	FANCM	c.3920A>G	NM_020937.4	NP_065988.1:p.(Tyr1307Cys)	NC_000014.8:g.45645877A>G	(Likely) benign	1 lab	5ba3f07a3d
19:11230788 LDLR T>TA	19	11230788	11230789	T	TA	LDLR	c.1867dup	NM_000527.5	NP_000518.1:p.(Ile623AsnfsTer22)	NC_000019.9:g.11230789dup	(Likely) pathogenic	1 lab	5bab63e11d
15:90631924 IDH2 C>G	15	90631924	90631924	C	G	IDH2	c.429G>C	NM_002168.4	NP_002159.2:p.(Leu143=)	NC_000015.9:g.90631924C>G	(Likely) benign	1 lab	5bac8bfd0e
2:179448982 TTN T>TA	2	179448982	179448989	T	TA	TTN	c.65275+20dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179448989dup	(Likely) benign	1 lab	5bacdf01b0
14:24542211 CPNE6 G>A	14	24542211	24542211	G	A	CPNE6	c.231G>A	NM_001280558.2	NP_001267487.1:p.(Val77=)	NC_000014.8:g.24542211G>A	(Likely) benign	1 lab	5badc877b9
17:7100169 DLG4 G>A	17	7100169	7100169	G	A	DLG4	c.990C>T	NM_001321075.3	NP_001308004.1:p.(Gly330=)	NC_000017.10:g.7100169G>A	VUS	1 lab	5bae83be42
3:38616857 SCN5A G>T	3	38616857	38616857	G	T	SCN5A	c.3597C>A	NM_198056.3	NP_932173.1:p.(Tyr1199Ter)	NC_000003.11:g.38616857G>T	(Likely) pathogenic	1 lab	5bb3b8b1f4
16:7092052 RBFOX1 Ref too long to show for this DEL>T	16	7092052	7115465	Ref too long to show for this DEL	T	RBFOX1	c.-15-10003_27+13366del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.7092055_7115465del	VUS	1 lab	5bb43bdf99
2:179413619 TTN CA>C	2	179413619	179413620	CA	C	TTN	c.92733del	NM_001267550.2	NP_001254479.2:p.(Gly30912AlafsTer9)	NC_000002.11:g.179413620del	(Likely) pathogenic	1 lab	5bb47e4386
11:108202628 ATM A>G	11	108202628	108202628	A	G	ATM	c.7652A>G	NM_000051.4	NP_000042.3:p.(Asp2551Gly)	NC_000011.9:g.108202628A>G	VUS	1 lab	5bbc3a4717
10:95422894 PDE6C T>C	10	95422894	95422894	T	C	PDE6C	c.2477T>C	NM_006204.4	NP_006195.3:p.(Ile826Thr)	NC_000010.10:g.95422894T>C	(Likely) benign	1 lab	5bbc5ca17f
9:79840850 VPS13A A>G	9	79840850	79840850	A	G	VPS13A	c.1170A>G	NM_033305.3	NP_150648.2:p.(Glu390=)	NC_000009.11:g.79840850A>G	(Likely) benign	1 lab	5bbcdbad2d
11:47358040 MYBPC3 CAAAAAA>C	11	47358040	47358064	CAAAAAA	C	MYBPC3	c.2603-484_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358059_47358064del	(Likely) benign	1 lab	5bbea1ca9b
11:47371242 MYBPC3 C>G	11	47371242	47371242	C	G	MYBPC3	c.654+83G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371242C>G	(Likely) benign	1 lab	5bbfb2a4ee
4:16017783 PROM1 G>C	4	16017783	16017783	G	C	PROM1	c.1050+6C>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16017783G>C	(Likely) benign	1 lab	5bc014a675
2:44099434 ABCG8 G>A	2	44099434	44099434	G	A	ABCG8	c.1200G>A	NM_022437.3	NP_071882.1:p.(Thr400=)	NC_000002.11:g.44099434G>A	(Likely) benign	1 lab	5bc19d6d72
10:91005008 LIPA C>T	10	91005008	91005008	C	T	LIPA	c.229+425G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005008C>T	(Likely) benign	1 lab	5bc5f74cec
12:112036782 ATXN2 T>C	12	112036782	112036782	T	C	ATXN2	c.57A>G	NM_002973.4	NP_002964.4:p.(Gln19=)	NC_000012.11:g.112036782T>C	(Likely) benign	1 lab	5bd67f7454
1:237948056 RYR2 G>A	1	237948056	237948056	G	A	RYR2	c.13044G>A	NM_001035.3	NP_001026.2:p.(Glu4348=)	NC_000001.10:g.237948056G>A	(Likely) benign	1 lab	5bd89cc65c
5:131132515 FNIP1 C>T	5	131132515	131132515	C	T	FNIP1	c.92+8G>A	NM_133372.3	NP_588613.3:p.?	NC_000005.9:g.131132515C>T	(Likely) benign	1 lab	5bd91bf6a4
17:75486681 SEPTIN9 C>T	17	75486681	75486681	C	T	SEPTIN9	c.1209-143C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75486681C>T	(Likely) benign	1 lab	5bda63feea
7:33423258 BBS9 C>G	7	33423258	33423258	C	G	BBS9	c.1790-20C>G	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33423258C>G	(Likely) benign	1 lab	5bdbcca6be
4:110791173 LRIT3 C>A	4	110791173	110791173	C	A	LRIT3	c.1268C>A	NM_198506.5	NP_940908.3:p.(Thr423Asn)	NC_000004.11:g.110791173C>A	VUS	1 lab	5bdd3e67e8
17:15134314 PMP22 C>T	17	15134314	15134314	C	T	PMP22	c.403G>A	NM_001281456.2	NP_001268385.1:p.(Ala135Thr)	NC_000017.10:g.15134314C>T	(Likely) benign	1 lab	5be11b826c
17:80048386 FASN C>T	17	80048386	80048386	C	T	FASN	c.1735G>A	NM_004104.5	NP_004095.4:p.(Gly579Ser)	NC_000017.10:g.80048386C>T	VUS	1 lab	5be4fed333
15:35083508 ACTC1 TCACACACACA>T	15	35083508	35083554	TCACACACACA	T	ACTC1	c.809-22_809-13del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083545_35083554del	(Likely) benign	1 lab	5be673d6e7
11:67815258 TCIRG1 C>T	11	67815258	67815258	C	T	TCIRG1	c.1450C>T	NM_006019.4	NP_006010.2:p.(Gln484Ter)	NC_000011.9:g.67815258C>T	(Likely) pathogenic	1 lab	5beda422b0
1:218609749 TGFB2 G>A	1	218609749	218609749	G	A	TGFB2	c.1016+260G>A	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218609749G>A	(Likely) benign	1 lab	5bef3626db
X:49087005 CACNA1F CT>C	X	49087005	49087008	CT	C	CACNA1F	c.587del	NM_005183.4	NP_005174.2:p.(Lys196SerfsTer7)	NC_000023.10:g.49087008del	(Likely) pathogenic	1 lab	5bf07250ac
8:10468581 RP1L1 C>T	8	10468581	10468581	C	T	RP1L1	c.3027G>A	NM_178857.6	NP_849188.4:p.(Ala1009=)	NC_000008.10:g.10468581C>T	(Likely) benign	1 lab	5bf16aac66
5:127612067 FBN2 T>A	5	127612067	127612067	T	A	FBN2	c.7472-215A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127612067T>A	(Likely) benign	1 lab	5bf85a4c38
2:179399798 TTN T>G	2	179399798	179399798	T	G	TTN	c.101544A>C	NM_001267550.2	NP_001254479.2:p.(Lys33848Asn)	NC_000002.11:g.179399798T>G	VUS	1 lab	5c0669ab4a
6:16145414 MYLIP C>T	6	16145414	16145414	C	T	MYLIP	c.1114C>T	NM_013262.4	NP_037394.2:p.(Arg372Trp)	NC_000006.11:g.16145414C>T	VUS	1 lab	5c098b32e5
19:55663278 TNNI3 C>T	19	55663278	55663278	C	T	TNNI3	c.557G>A	NM_000363.5	NP_000354.4:p.(Arg186Gln)	NC_000019.9:g.55663278C>T	(Likely) pathogenic	1 lab	5c0daa6cd7
9:94794700 SPTLC1 CCT>C	9	94794700	94794706	CCT	C	SPTLC1	c.1435_1436del	NM_001281303.2	NP_001268232.1:p.(Arg479AspfsTer21)	NC_000009.11:g.94794705_94794706del	(Likely) benign	1 lab	5c0dc0b806
2:179391883 TTN C>T	2	179391883	179391883	C	T	TTN	c.107832G>A	NM_001267550.2	NP_001254479.2:p.(Arg35944=)	NC_000002.11:g.179391883C>T	(Likely) benign	1 lab	5c0f42cac5
2:179438438 TTN C>T	2	179438438	179438438	C	T	TTN	c.72421G>A	NM_001267550.2	NP_001254479.2:p.(Val24141Ile)	NC_000002.11:g.179438438C>T	VUS	1 lab	5c105c5d08
1:89523756 GBP1 G>T	1	89523756	89523756	G	T	GBP1	c.793C>A	NM_002053.3	NP_002044.2:p.(Gln265Lys)	NC_000001.10:g.89523756G>T	(Likely) benign	1 lab	5c10ed60fe
6:75861851 COL12A1 G>C	6	75861851	75861851	G	C	COL12A1	c.3831C>G	NM_004370.6	NP_004361.3:p.(Leu1277=)	NC_000006.11:g.75861851G>C	(Likely) benign	1 lab	5c1215a6ac
20:34092347 CEP250 G>A	20	34092347	34092347	G	A	CEP250	c.6150G>A	NM_007186.6	NP_009117.2:p.(Glu2050=)	NC_000020.10:g.34092347G>A	(Likely) benign	1 lab	5c1267a6c1
5:86659147 CCNH AT>A	5	86659147	86659158	AT	A	CCNH	c.933+31713del	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86659158del	(Likely) benign	1 lab	5c127511f1
11:95578328 MTMR2 A>T	11	95578328	95578328	A	T	MTMR2	c.964-5T>A	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95578328A>T	(Likely) benign	1 lab	5c14287f24
2:220503516 SLC4A3 C>T	2	220503516	220503516	C	T	SLC4A3	c.3029C>T	NM_201574.3	NP_963868.3:p.(Pro1010Leu)	NC_000002.11:g.220503516C>T	(Likely) benign	1 lab	5c1456aeb5
1:36557321 ADPRS GCCTGC>G	1	36557321	36557328	GCCTGC	G	ADPRS	c.414_418del	NM_017825.3	NP_060295.1:p.(Ala139GlyfsTer4)	NC_000001.10:g.36557324_36557328del	VUS	1 lab	5c18abdab2
9:5078399 JAK2 A>C	9	5078399	5078399	A	C	JAK2	c.2086A>C	NM_001322194.2	NP_001309123.1:p.(Lys696Gln)	NC_000009.11:g.5078399A>C	VUS	1 lab	5c1adc2eef
8:1853799 ARHGEF10 C>T	8	1853799	1853799	C	T	ARHGEF10	c.1956C>T	NM_001308153.2	NP_001295082.1:p.(Asn652=)	NC_000008.10:g.1853799C>T	(Likely) benign	1 lab	5c1b6f25e9
14:68149795 MISSING A>Alt too long to show for this DUP	14	68149795	69077028	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.68149796_69077028dup	VUS	1 lab	5c1c79d5ce
2:44047211 ABCG5 G>C	2	44047211	44047211	G	C	ABCG5	c.1492C>G	NM_022436.3	NP_071881.1:p.(Arg498Gly)	NC_000002.11:g.44047211G>C	(Likely) pathogenic	1 lab	5c1ccd6e29
6:32010282 TNXB G>A	6	32010282	32010282	G	A	TNXB	c.12154C>T	NM_019105.8	NP_061978.6:p.(Arg4052Trp)	NC_000006.11:g.32010282G>A	VUS	1 lab	5c1dae6045
12:2794993 CACNA1C C>T	12	2794993	2794993	C	T	CACNA1C	c.5914C>T	NM_199460.4	NP_955630.3:p.(Arg1972Cys)	NC_000012.11:g.2794993C>T	(Likely) benign	1 lab	5c1e482c7e
16:89985733 MC1R C>T	16	89985733	89985733	C	T	MC1R	c.67C>T	NM_002386.4	NP_002377.4:p.(Gln23Ter)	NC_000016.9:g.89985733C>T	VUS	1 lab	5c22c9b769
2:44078761 ABCG8 C>T	2	44078761	44078761	C	T	ABCG8	c.361C>T	NM_022437.3	NP_071882.1:p.(Arg121Ter)	NC_000002.11:g.44078761C>T	(Likely) pathogenic	1 lab	5c261ff716
22:21350173 LZTR1 C>T	22	21350173	21350173	C	T	LZTR1	c.2069+12C>T	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21350173C>T	(Likely) benign	1 lab	5c278733ce
2:179418222 TTN T>A	2	179418222	179418222	T	A	TTN	c.89503+7A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179418222T>A	(Likely) benign	1 lab	5c2c6d97a3
1:236910982 ACTN2 C>T	1	236910982	236910982	C	T	ACTN2	c.798C>T	NM_001278344.2	NP_001265273.1:p.(His266=)	NC_000001.10:g.236910982C>T	(Likely) benign	1 lab	5c30c909d0
13:100634520 ZIC2 G>T	13	100634520	100634520	G	T	ZIC2	c.202G>T	NM_007129.5	NP_009060.2:p.(Glu68Ter)	NC_000013.10:g.100634520G>T	(Likely) pathogenic	1 lab	5c335961a3
2:69350195 ANTXR1 G>A	2	69350195	69350195	G	A	ANTXR1	c.849G>A	NM_032208.3	NP_115584.1:p.(Ala283=)	NC_000002.11:g.69350195G>A	(Likely) benign	1 lab	5c341ecb12
4:120107108 MYOZ2 T>TTA	4	120107108	120107109	T	TTA	MYOZ2	c.561-13_561-12insTA	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120107108_120107109insTA	(Likely) benign	1 lab	5c37acd03a
16:15851402 MYH11 G>A	16	15851402	15851402	G	A	MYH11	c.1596+282C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15851402G>A	(Likely) benign	1 lab	5c3bbb44f9
5:141044472 ARAP3 A>G	5	141044472	141044472	A	G	ARAP3	c.2800+17T>C	NM_022481.6	NP_071926.4:p.?	NC_000005.9:g.141044472A>G	(Likely) benign	1 lab	5c41051ff5
9:139407445 NOTCH1 T>C	9	139407445	139407445	T	C	NOTCH1	c.2467+28A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407445T>C	(Likely) benign	1 lab	5c43a8197d
14:105174808 INF2 G>C	14	105174808	105174808	G	C	INF2	c.1771G>C	NM_022489.4	NP_071934.3:p.(Asp591His)	NC_000014.8:g.105174808G>C	(Likely) benign	1 lab	5c44d6b1e9
22:51066407 MISSING G>Alt too long to show for this DUP	22	51066407	51107468	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.51066408_51107468dup	VUS	1 lab	5c4566fdf1
1:55518828 PCSK9 A>G	1	55518828	55518828	A	G	PCSK9	c.799+364A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518828A>G	(Likely) benign	1 lab	5c4d0048e9
11:9806745 SBF2 A>G	11	9806745	9806745	A	G	SBF2	c.5158T>C	NM_030962.4	NP_112224.1:p.(Ser1720Pro)	NC_000011.9:g.9806745A>G	VUS	1 lab	5c4dd157e5
12:21325677 SLCO1B1 G>A	12	21325677	21325677	G	A	SLCO1B1	c.178G>A	NM_006446.5	NP_006437.3:p.(Glu60Lys)	NC_000012.11:g.21325677G>A	(Likely) benign	1 lab	5c4f94b9bd
9:139400165 NOTCH1 T>C	9	139400165	139400165	T	C	NOTCH1	c.4183A>G	NM_017617.5	NP_060087.3:p.(Asn1395Asp)	NC_000009.11:g.139400165T>C	VUS	1 lab	5c54de9fa0
1:222801661 MIA3 A>T	1	222801661	222801661	A	T	MIA3	c.1099A>T	NM_198551.4	NP_940953.2:p.(Thr367Ser)	NC_000001.10:g.222801661A>T	(Likely) benign	1 lab	5c59da77b5
10:69926207 MYPN A>G	10	69926207	69926207	A	G	MYPN	c.1757A>G	NM_032578.4	NP_115967.2:p.(Asn586Ser)	NC_000010.10:g.69926207A>G	VUS	1 lab	5c5be5f62e
12:132414289 PUS1 C>T	12	132414289	132414289	C	T	PUS1	c.22C>T	NM_025215.6	NP_079491.2:p.(Leu8=)	NC_000012.11:g.132414289C>T	(Likely) benign	1 lab	5c5c97e214
2:179413186 TTN C>T	2	179413186	179413186	C	T	TTN	c.93167G>A	NM_001267550.2	NP_001254479.2:p.(Arg31056Gln)	NC_000002.11:g.179413186C>T	VUS	1 lab	5c60699dfd
5:55396084 ANKRD55 G>Alt too long to show for this DUP	5	55396084	55407095	G	Alt too long to show for this DUP	ANKRD55	c.1480_1770dup	NM_024669.3	NP_078945.2:p.(Trp494_Ile590dup)	NC_000005.9:g.55396085_55407095dup	VUS	1 lab	5c6167e53c
3:171302064 MISSING T>Alt too long to show for this DUP	3	171302064	171820890	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.171302066_171820890dup	VUS	1 lab	5c661cff91
12:117907556 KSR2 A>G	12	117907556	117907556	A	G	KSR2	c.2757T>C	NM_173598.6	NP_775869.4:p.(Pro919=)	NC_000012.11:g.117907556A>G	(Likely) benign	1 lab	5c67529ca8
2:179482713 TTN C>T	2	179482713	179482713	C	T	TTN	c.47365G>A	NM_001267550.2	NP_001254479.2:p.(Glu15789Lys)	NC_000002.11:g.179482713C>T	VUS	1 lab	5c6dcb1566
10:81614858 MISSING Ref too long to show for this DEL>T	10	81614858	81984775	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.81614859_81984775del	VUS	1 lab	5c71686cec
4:153250822 FBXW7 A>T	4	153250822	153250822	A	T	FBXW7	c.1236+2T>A	NM_001349798.2	NP_001336727.1:p.?	NC_000004.11:g.153250822A>T	(Likely) pathogenic	1 lab	5c72ee4844
4:100518286 MTTP G>A	4	100518286	100518286	G	A	MTTP	c.972G>A	NM_000253.4	NP_000244.2:p.(Glu324=)	NC_000004.11:g.100518286G>A	(Likely) benign	1 lab	5c733f8a84
X:153036934 PLXNB3 TC>T	X	153036934	153036937	TC	T	PLXNB3	c.2417-4del	NM_001163257.2	NP_001156729.1:p.?	NC_000023.10:g.153036937del	(Likely) benign	1 lab	5c734c2216
8:144297313 GPIHBP1 G>A	8	144297313	144297313	G	A	GPIHBP1	c.475G>A	NM_178172.6	NP_835466.2:p.(Gly159Ser)	NC_000008.10:g.144297313G>A	VUS	1 lab	5c76930abc
16:18512321 NOMO2 G>A	16	18512321	18512321	G	A	NOMO2	c.3465C>T	NM_173614.3	NP_775885.1:p.(Asp1155=)	NC_000016.9:g.18512321G>A	(Likely) benign	1 lab	5cba460977
2:183790479 NCKAP1 C>T	2	183790479	183790479	C	T	NCKAP1	c.3356G>A	NM_205842.3	NP_995314.1:p.(Arg1119Lys)	NC_000002.11:g.183790479C>T	VUS	1 lab	5c8ca56484
5:86669964 CCNH AT>A	5	86669964	86669977	AT	A	CCNH	c.933+20896del	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86669977del	(Likely) benign	1 lab	5c8e410ad4
5:140558315 PCDHB8 GTC>G	5	140558315	140558317	GTC	G	PCDHB8	c.701_702del	NM_019120.5	NP_061993.3:p.(Val234GlyfsTer4)	NC_000005.9:g.140558316_140558317del	(Likely) benign	1 lab	5c8e789bda
7:100853911 PLOD3 G>C	7	100853911	100853911	G	C	PLOD3	c.1402C>G	NM_001084.5	NP_001075.1:p.(Arg468Gly)	NC_000007.13:g.100853911G>C	(Likely) benign	1 lab	5c94f44ef6
1:237872303 RYR2 G>A	1	237872303	237872303	G	A	RYR2	c.10047G>A	NM_001035.3	NP_001026.2:p.(Ser3349=)	NC_000001.10:g.237872303G>A	(Likely) benign	1 lab	5c95a8c074
6:7584345 DSP C>T	6	7584345	7584345	C	T	DSP	c.6850C>T	NM_004415.4	NP_004406.2:p.(Arg2284Ter)	NC_000006.11:g.7584345C>T	(Likely) pathogenic	1 lab	5c9c071ebe
7:6509298 KDELR2 G>A	7	6509298	6509298	G	A	KDELR2	c.280C>T	NM_006854.4	NP_006845.1:p.(Arg94Ter)	NC_000007.13:g.6509298G>A	(Likely) pathogenic	1 lab	5c9ed3b3f7
15:100649248 ADAMTS17 G>A	15	100649248	100649248	G	A	ADAMTS17	c.1962C>T	NM_139057.4	NP_620688.2:p.(Asp654=)	NC_000015.9:g.100649248G>A	(Likely) benign	1 lab	5ca8407ebd
7:72726577 MISSING Ref too long to show for this DEL>G	7	72726577	74142329	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72726580_74142329del	(Likely) pathogenic	1 lab	5ca9eb9ee7
2:27305120 EMILIN1 G>A	2	27305120	27305120	G	A	EMILIN1	c.681G>A	NM_007046.4	NP_008977.1:p.(Ala227=)	NC_000002.11:g.27305120G>A	(Likely) benign	1 lab	5cba137bef
13:32911943 BRCA2 ATCTT>A	13	32911943	32911947	ATCTT	A	BRCA2	c.3452_3455del	NM_000059.4	NP_000050.3:p.(Ile1151LysfsTer16)	NC_000013.10:g.32911944_32911947del	(Likely) pathogenic	1 lab	5cbfa5b086
15:72037303 THSD4 G>A	15	72037303	72037303	G	A	THSD4	c.827-142G>A	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72037303G>A	(Likely) benign	1 lab	5cc56d1607
2:171853273 TLK1 T>TA	2	171853273	171853283	T	TA	TLK1	c.2017-4dup	NM_012290.5	NP_036422.3:p.?	NC_000002.11:g.171853283dup	(Likely) benign	1 lab	5cc7a7a8fe
9:72695107 MAMDC2 Ref too long to show for this DEL>C	9	72695107	72742919	Ref too long to show for this DEL	C	MAMDC2	c.149-28019_900+1588del	NM_153267.5	NP_694999.3:p.?	NC_000009.11:g.72695108_72742919del	VUS	1 lab	5cd0a76519
6:80223102 LCA5 G>A	6	80223102	80223102	G	A	LCA5	c.547C>T	NM_181714.4	NP_859065.2:p.(Arg183Trp)	NC_000006.11:g.80223102G>A	VUS	1 lab	5cd2115d97
15:98664116 MISSING G>Alt too long to show for this DUP	15	98664116	99110899	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.98664118_99110899dup	VUS	1 lab	5cd46bde0a
2:21246475 APOB A>T	2	21246475	21246475	A	T	APOB	c.2526T>A	NM_000384.3	NP_000375.3:p.(Ala842=)	NC_000002.11:g.21246475A>T	(Likely) benign	1 lab	5cd8c4fd41
16:921324 LMF1 G>A	16	921324	921324	G	A	LMF1	c.516C>T	NM_001352018.2	NP_001338947.1:p.(Ser172=)	NC_000016.9:g.921324G>A	(Likely) benign	1 lab	5cd8d362bc
6:112512957 LAMA4 T>A	6	112512957	112512957	T	A	LAMA4	c.599A>T	NM_002290.5	NP_002281.3:p.(Glu200Val)	NC_000006.11:g.112512957T>A	VUS	1 lab	5cde83b94f
2:201778717 ORC2 T>TA	2	201778717	201778732	T	TA	ORC2	c.1467-3dup	NM_006190.5	NP_006181.1:p.?	NC_000002.11:g.201778732dup	(Likely) benign	1 lab	5ce29a6de8
13:35632933 NBEA A>G	13	35632933	35632933	A	G	NBEA	c.1172A>G	NM_015678.5	NP_056493.3:p.(Tyr391Cys)	NC_000013.10:g.35632933A>G	VUS	1 lab	5ce50f4294
17:57128625 TRIM37 A>G	17	57128625	57128625	A	G	TRIM37	c.1264T>C	NM_001005207.5	NP_001005207.1:p.(Leu422=)	NC_000017.10:g.57128625A>G	(Likely) benign	1 lab	5ce663f097
6:16144053 MYLIP C>T	6	16144053	16144053	C	T	MYLIP	c.786C>T	NM_013262.4	NP_037394.2:p.(Ser262=)	NC_000006.11:g.16144053C>T	(Likely) benign	1 lab	5ce7d4140b
1:63066644 ANGPTL3 T>C	1	63066644	63066644	T	C	ANGPTL3	c.607-109T>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63066644T>C	(Likely) benign	1 lab	5ce8730648
9:135158634 SETX G>C	9	135158634	135158634	G	C	SETX	c.6546+17C>G	NM_001351527.2	NP_001338456.1:p.?	NC_000009.11:g.135158634G>C	(Likely) benign	1 lab	5cf3aeddda
2:21230498 APOB C>T	2	21230498	21230498	C	T	APOB	c.9242G>A	NM_000384.3	NP_000375.3:p.(Ser3081Asn)	NC_000002.11:g.21230498C>T	VUS	1 lab	5cf489e078
10:89623724 PTEN AGCG>A	10	89623724	89623741	AGCG	A	PTEN	c.-488_-486del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623739_89623741del	(Likely) benign	1 lab	5cf9094e05
4:119203229 PRSS12 CAT>C	4	119203229	119203231	CAT	C	PRSS12	c.2488_2489del	NM_003619.4	NP_003610.2:p.(Met830ValfsTer2)	NC_000004.11:g.119203230_119203231del	VUS	1 lab	5cf9691595
5:127697268 FBN2 C>T	5	127697268	127697268	C	T	FBN2	c.2554+148G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127697268C>T	(Likely) benign	1 lab	5cfbd70000
7:91731999 AKAP9 A>G	7	91731999	91731999	A	G	AKAP9	c.11189A>G	NM_005751.5	NP_005742.4:p.(Gln3730Arg)	NC_000007.13:g.91731999A>G	VUS	1 lab	5cfdb94cab
15:22770418 MISSING A>Alt too long to show for this DUP	15	22770418	23206905	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22770421_23206905dup	(Likely) pathogenic	1 lab	5d009e160f
2:44104749 ABCG8 G>A	2	44104749	44104749	G	A	ABCG8	c.1806G>A	NM_022437.3	NP_071882.1:p.(Gly602=)	NC_000002.11:g.44104749G>A	(Likely) benign	1 lab	5d070fe92b
6:7578945 DSP CTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAA>C	6	7578945	7578983	CTGGGGTTACTTCCATGCTCCAATACGCTGCTTTAAA	C	DSP	c.3084+153_3084+188del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7578948_7578983del	(Likely) benign	1 lab	5d0d190f58
1:156109650 LMNA T>A	1	156109650	156109650	T	A	LMNA	c.*753T>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156109650T>A	(Likely) benign	1 lab	5d0ddf6f8c
15:85407924 ALPK3 C>T	15	85407924	85407924	C	T	ALPK3	c.4723+28C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85407924C>T	(Likely) benign	1 lab	5d11d4ac47
7:151271979 PRKAG2 T>C	7	151271979	151271979	T	C	PRKAG2	c.1003A>G	NM_016203.4	NP_057287.2:p.(Met335Val)	NC_000007.13:g.151271979T>C	VUS	1 lab	5d19ab4674
15:45445692 DUOX1 ATGTGTGTGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTGTGTGTG	A	DUOX1	c.3524+53_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445730_45445745del	(Likely) benign	1 lab	5d1b75d9c7
5:131939121 RAD50 G>A	5	131939121	131939121	G	A	RAD50	c.2337G>A	NM_005732.4	NP_005723.2:p.(Met779Ile)	NC_000005.9:g.131939121G>A	(Likely) benign	1 lab	5d1c02faa0
14:105180721 INF2 G>C	14	105180721	105180721	G	C	INF2	c.3222G>C	NM_022489.4	NP_071934.3:p.(Arg1074Ser)	NC_000014.8:g.105180721G>C	VUS	1 lab	5d1c21d756
18:34232654 FHOD3 G>C	18	34232654	34232654	G	C	FHOD3	c.1408G>C	NM_001281740.3	NP_001268669.1:p.(Gly470Arg)	NC_000018.9:g.34232654G>C	VUS	1 lab	5d1c4af34e
15:58853142 LIPC C>T	15	58853142	58853142	C	T	LIPC	c.1131C>T	NM_000236.3	NP_000227.2:p.(Leu377=)	NC_000015.9:g.58853142C>T	(Likely) benign	1 lab	5d1d789dca
17:10535909 MYH3 G>A	17	10535909	10535909	G	A	MYH3	c.4840C>T	NM_002470.4	NP_002461.2:p.(Arg1614Trp)	NC_000017.10:g.10535909G>A	VUS	1 lab	5d1d9031a4
6:107404867 MISSING A>Alt too long to show for this DUP	6	107404867	107575014	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.107404871_107575014dup	VUS	1 lab	5d1ece6d8a
14:90866424 CALM1 G>A	14	90866424	90866424	G	A	CALM1	c.19G>A	NM_006888.6	NP_008819.1:p.(Glu7Lys)	NC_000014.8:g.90866424G>A	VUS	1 lab	5d268703b1
17:10427810 MYH2 A>T	17	10427810	10427810	A	T	MYH2	c.5148T>A	NM_001100112.2	NP_001093582.1:p.(Ser1716Arg)	NC_000017.10:g.10427810A>T	VUS	1 lab	5d2907f805
7:32510426 MISSING Ref too long to show for this DEL>T	7	32510426	35099865	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.32510427_35099865del	(Likely) pathogenic	1 lab	5d2bad285f
7:128483842 FLNC C>T	7	128483842	128483842	C	T	FLNC	c.2812-8C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483842C>T	(Likely) benign	1 lab	5d48dac873
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	5d2d18373c
1:150994135 MISSING Ref too long to show for this DEL>A	1	150994135	151062334	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.150994136_151062334del	VUS	1 lab	5d2f87d594
12:47239683 MISSING C>Alt too long to show for this DUP	12	47239683	47484277	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.47239688_47484277dup	VUS	1 lab	5d30ece567
5:82815646 VCAN C>T	5	82815646	82815646	C	T	VCAN	c.1521C>T	NM_004385.5	NP_004376.2:p.(His507=)	NC_000005.9:g.82815646C>T	(Likely) benign	1 lab	5d326aaafe
22:43089506 A4GALT CG>C	22	43089506	43089508	CG	C	A4GALT	c.451del	NM_017436.7	NP_059132.1:p.(Arg151GlyfsTer54)	NC_000022.10:g.43089508del	(Likely) pathogenic	1 lab	5d326aab92
X:77369411 PGK1 C>T	X	77369411	77369411	C	T	PGK1	c.272+15C>T	NM_000291.4	NP_000282.1:p.?	NC_000023.10:g.77369411C>T	(Likely) benign	1 lab	5d348cc673
2:179594070 TTN G>A	2	179594070	179594070	G	A	TTN	c.15081C>T	NM_133378.4	NP_596869.4:p.(Cys5027=)	NC_000002.11:g.179594070G>A	(Likely) benign	1 lab	5d3850c281
19:15284976 NOTCH3 G>C	19	15284976	15284976	G	C	NOTCH3	c.4639C>G	NM_000435.3	NP_000426.2:p.(Leu1547Val)	NC_000019.9:g.15284976G>C	(Likely) benign	1 lab	5d38c05810
X:22245667 PHEX A>G	X	22245667	22245667	A	G	PHEX	c.2009A>G	NM_000444.6	NP_000435.3:p.(Glu670Gly)	NC_000023.10:g.22245667A>G	VUS	1 lab	5d3b4ffa2b
8:19819154 LPL T>C	8	19819154	19819154	T	C	LPL	c.1323-472T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819154T>C	(Likely) benign	1 lab	5d8ea4d5bf
7:128484840 FLNC C>T	7	128484840	128484840	C	T	FLNC	c.3321C>T	NM_001458.5	NP_001449.3:p.(Ile1107=)	NC_000007.13:g.128484840C>T	(Likely) benign	1 lab	5d3fc131fb
5:138409753 MISSING T>Alt too long to show for this DUP	5	138409753	138571144	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.138409755_138571144dup	VUS	1 lab	5d4128f7f9
17:78092509 GAA CAGA>C	17	78092509	78092514	CAGA	C	GAA	c.2707_2709del	NM_000152.5	NP_000143.2:p.(Lys903del)	NC_000017.10:g.78092512_78092514del	(Likely) pathogenic	1 lab	5d48928a36
3:50231111 GNAT1 A>AGCGCGGG	3	50231111	50231136	A	AGCGCGGG	GNAT1	c.449+34_449+40dup	NM_144499.3	NP_653082.1:p.?	NC_000003.11:g.50231130_50231136dup	(Likely) benign	1 lab	5d48cb8d4e
19:11224246 LDLR A>G	19	11224246	11224246	A	G	LDLR	c.1394A>G	NM_000527.5	NP_000518.1:p.(Tyr465Cys)	NC_000019.9:g.11224246A>G	VUS	1 lab	5d4ca2c080
1:16894476 NBPF1 G>C	1	16894476	16894476	G	C	NBPF1	c.2664C>G	NM_017940.6	NP_060410.3:p.(Pro888=)	NC_000001.10:g.16894476G>C	(Likely) benign	1 lab	5d4fbae29a
17:45234305 CDC27 T>C	17	45234305	45234305	T	C	CDC27	c.816A>G	NM_001114091.4	NP_001107563.1:p.(Pro272=)	NC_000017.10:g.45234305T>C	(Likely) benign	1 lab	5d55e0d6eb
2:179475862 TTN A>G	2	179475862	179475862	A	G	TTN	c.50994T>C	NM_001267550.2	NP_001254479.2:p.(Ser16998=)	NC_000002.11:g.179475862A>G	(Likely) benign	1 lab	5d5c75a9a5
19:17994573 SLC5A5 A>C	19	17994573	17994573	A	C	SLC5A5	c.1326A>C	NM_000453.3	NP_000444.1:p.(Thr442=)	NC_000019.9:g.17994573A>C	(Likely) benign	1 lab	5d6532950c
16:984001 LMF1 C>CCGACAATCATGCGTG	16	984001	984020	C	CCGACAATCATGCGTG	LMF1	c.90_104dup	NM_001352018.2	NP_001338947.1:p.(Thr31_Arg35dup)	NC_000016.9:g.984006_984020dup	VUS	1 lab	5d6ac07089
9:95618605 ZNF484 TA>T	9	95618605	95618617	TA	T	ZNF484	c.-93-6del	NM_001261459.3	NP_001248388.1:p.?	NC_000009.11:g.95618617del	(Likely) benign	1 lab	5d6d86bccb
15:58860565 LIPC T>C	15	58860565	58860565	T	C	LIPC	c.1389-350T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58860565T>C	(Likely) benign	1 lab	5d71436087
2:179391994 TTN G>T	2	179391994	179391994	G	T	TTN	c.107721C>A	NM_001267550.2	NP_001254479.2:p.(Ser35907Arg)	NC_000002.11:g.179391994G>T	VUS	1 lab	5d7359bab8
13:32921023 BRCA2 G>GT	13	32921023	32921024	G	GT	BRCA2	c.6998dup	NM_000059.4	NP_000050.3:p.(Pro2334ThrfsTer6)	NC_000013.10:g.32921024dup	(Likely) pathogenic	1 lab	5d771976a4
7:151932945 KMT2C C>T	7	151932945	151932945	C	T	KMT2C	c.2726G>A	NM_170606.3	NP_733751.2:p.(Arg909Lys)	NC_000007.13:g.151932945C>T	(Likely) benign	1 lab	5d771f0895
22:46807523 CELSR1 T>C	22	46807523	46807523	T	C	CELSR1	c.4745A>G	NM_001378328.1	NP_001365257.1:p.(Gln1582Arg)	NC_000022.10:g.46807523T>C	VUS	1 lab	5d77320819
19:11213565 LDLR G>A	19	11213565	11213565	G	A	LDLR	c.313+103G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213565G>A	(Likely) benign	1 lab	5d7e189784
20:19909785 RIN2 A>Alt too long to show for this DUP	20	19909785	19946076	A	Alt too long to show for this DUP	RIN2	c.58-5957_536+408dup	NM_018993.4	NP_061866.1:p.?	NC_000020.10:g.19909786_19946076dup	VUS	1 lab	5d8db7ed69
3:110511138 MISSING C>Alt too long to show for this DUP	3	110511138	110898389	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.110511139_110898389dup	(Likely) pathogenic	1 lab	5d8dfa57ca
1:156130280 SEMA4A G>A	1	156130280	156130280	G	A	SEMA4A	c.615G>A	NM_022367.4	NP_071762.2:p.(Glu205=)	NC_000001.10:g.156130280G>A	(Likely) benign	1 lab	5d8ed58813
10:92672671 ANKRD1 G>A	10	92672671	92672671	G	A	ANKRD1	c.912C>T	NM_014391.3	NP_055206.2:p.(Asp304=)	NC_000010.10:g.92672671G>A	(Likely) benign	1 lab	5d8f5d5861
8:43054522 HGSNAT C>G	8	43054522	43054522	C	G	HGSNAT	c.1727-9C>G	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43054522C>G	(Likely) benign	1 lab	5d9767f999
16:919999 LMF1 C>T	16	919999	919999	C	T	LMF1	c.1300G>A	NM_022773.4	NP_073610.2:p.(Ala434Thr)	NC_000016.9:g.919999C>T	(Likely) benign	1 lab	5da352bed8
15:48736447 FBN1 A>G	15	48736447	48736447	A	G	FBN1	c.6037+291T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48736447A>G	(Likely) benign	1 lab	5da3deecd8
2:74140737 ACTG2 A>T	2	74140737	74140737	A	T	ACTG2	c.577A>T	NM_001615.4	NP_001606.1:p.(Ile193Phe)	NC_000002.11:g.74140737A>T	(Likely) pathogenic	1 lab	5da6d751a2
11:47358237 MYBPC3 G>A	11	47358237	47358237	G	A	MYBPC3	c.2603-675C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358237G>A	(Likely) benign	1 lab	5df360a6c4
9:107595030 ABCA1 T>C	9	107595030	107595030	T	C	ABCA1	c.1334A>G	NM_005502.4	NP_005493.2:p.(Asn445Ser)	NC_000009.11:g.107595030T>C	VUS	1 lab	5da7748e34
3:132169705 DNAJC13 T>A	3	132169705	132169705	T	A	DNAJC13	c.537+14T>A	NM_015268.4	NP_056083.3:p.?	NC_000003.11:g.132169705T>A	(Likely) benign	1 lab	5daa0cb85a
12:88442951 CEP290 T>C	12	88442951	88442951	T	C	CEP290	c.*10A>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88442951T>C	(Likely) benign	1 lab	5dabadfb1c
1:63063279 ANGPTL3 T>G	1	63063279	63063279	T	G	ANGPTL3	c.42T>G	NM_014495.4	NP_055310.1:p.(Val14=)	NC_000001.10:g.63063279T>G	(Likely) benign	1 lab	5dad4d7206
3:32180120 GPD1L C>A	3	32180120	32180120	C	A	GPD1L	c.267C>A	NM_015141.4	NP_055956.1:p.(Asp89Glu)	NC_000003.11:g.32180120C>A	VUS	1 lab	5dad6c7132
12:21327319 SLCO1B1 C>CT	12	21327319	21327328	C	CT	SLCO1B1	c.227-183dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327328dup	(Likely) benign	1 lab	5db692bcc2
3:145841825 PLOD2 G>A	3	145841825	145841825	G	A	PLOD2	c.201+100C>T	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145841825G>A	(Likely) benign	1 lab	5dbcfdaccd
19:15272201 NOTCH3 G>GC	19	15272201	15272206	G	GC	NOTCH3	c.6237dup	NM_000435.3	NP_000426.2:p.(Arg2080AlafsTer15)	NC_000019.9:g.15272206dup	(Likely) benign	1 lab	5dbfb31f76
11:46332703 CREB3L1 C>T	11	46332703	46332703	C	T	CREB3L1	c.716C>T	NM_052854.4	NP_443086.1:p.(Thr239Met)	NC_000011.9:g.46332703C>T	(Likely) benign	1 lab	5dc0ce68e3
1:78392157 NEXN G>C	1	78392157	78392157	G	C	NEXN	c.548G>C	NM_144573.4	NP_653174.3:p.(Gly183Ala)	NC_000001.10:g.78392157G>C	VUS	1 lab	5dc6daae85
6:32820924 TAP1 C>T	6	32820924	32820924	C	T	TAP1	c.490G>A	NM_000593.6	NP_000584.3:p.(Gly164Ser)	NC_000006.11:g.32820924C>T	VUS	1 lab	5dccb8cc50
3:46902206 MYL3 C>T	3	46902206	46902206	C	T	MYL3	c.267G>A	NM_000258.3	NP_000249.1:p.(Gln89=)	NC_000003.11:g.46902206C>T	(Likely) benign	1 lab	5dd4eae9f4
2:27532768 MPV17 A>C	2	27532768	27532768	A	C	MPV17	c.*12T>G	NM_002437.5	NP_002428.1:p.?	NC_000002.11:g.27532768A>C	(Likely) benign	1 lab	5eca519faa
8:19809378 LPL G>A	8	19809378	19809378	G	A	LPL	c.348G>A	NM_000237.3	NP_000228.1:p.(Arg116=)	NC_000008.10:g.19809378G>A	(Likely) benign	1 lab	5dd73809b2
10:50394500 MISSING Ref too long to show for this DEL>T	10	50394500	50405933	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.50394501_50405933del	VUS	1 lab	5dd9872e30
7:81591826 CACNA2D1 T>TA	7	81591826	81591836	T	TA	CACNA2D1	c.2781-16dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81591836dup	(Likely) benign	1 lab	5ddcba3dfd
6:72892296 RIMS1 G>A	6	72892296	72892296	G	A	RIMS1	c.1122G>A	NM_014989.6	NP_055804.2:p.(Gln374=)	NC_000006.11:g.72892296G>A	(Likely) benign	1 lab	5dddf4c9d2
19:11211031 LDLR C>G	19	11211031	11211031	C	G	LDLR	c.190+10C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11211031C>G	(Likely) benign	1 lab	5de1e366c4
19:54625273 PRPF31 C>T	19	54625273	54625273	C	T	PRPF31	c.273C>T	NM_015629.4	NP_056444.3:p.(Arg91=)	NC_000019.9:g.54625273C>T	(Likely) benign	1 lab	5de52dd04f
10:112404339 RBM20 C>A	10	112404339	112404339	C	A	RBM20	c.127C>A	NM_001134363.3	NP_001127835.2:p.(Gln43Lys)	NC_000010.10:g.112404339C>A	VUS	1 lab	5de90e86fc
9:35064295 VCP G>T	9	35064295	35064295	G	T	VCP	c.442-13C>A	NM_001354928.2	NP_001341857.1:p.?	NC_000009.11:g.35064295G>T	(Likely) benign	1 lab	5de91b68da
9:107645408 ABCA1 C>A	9	107645408	107645408	C	A	ABCA1	c.333G>T	NM_005502.4	NP_005493.2:p.(Arg111Ser)	NC_000009.11:g.107645408C>A	VUS	1 lab	5debe70828
5:37180280 CPLANE1 A>G	5	37180280	37180280	A	G	CPLANE1	c.5576T>C	NM_023073.4	NP_075561.3:p.(Met1859Thr)	NC_000005.9:g.37180280A>G	VUS	1 lab	5ded6aa1f0
12:21374838 SLCO1B1 A>G	12	21374838	21374838	A	G	SLCO1B1	c.1683-396A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21374838A>G	(Likely) benign	1 lab	5df1ff700f
11:116701122 APOC3 C>G	11	116701122	116701122	C	G	APOC3	c.-13-164C>G	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701122C>G	(Likely) benign	1 lab	5df397c57b
15:48936996 FBN1 C>A	15	48936996	48936996	C	A	FBN1	c.-30G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48936996C>A	VUS	1 lab	5df45774a7
15:31342672 TRPM1 C>T	15	31342672	31342672	C	T	TRPM1	c.1428G>A	NM_001252020.2	NP_001238949.1:p.(Gly476=)	NC_000015.9:g.31342672C>T	(Likely) benign	1 lab	5df4ab9188
X:153735151 FAM3A C>T	X	153735151	153735151	C	T	FAM3A	c.726G>A	NM_001282311.2	NP_001269240.1:p.(Thr242=)	NC_000023.10:g.153735151C>T	(Likely) benign	1 lab	5df574c9ad
14:60520411 MISSING G>Alt too long to show for this DUP	14	60520411	60645144	G	Alt too long to show for this DUP	MISSING				NC_000014.8:g.60520412_60645144dup	VUS	1 lab	5df9469017
8:117868531 RAD21 TAAAAAA>T	8	117868531	117868554	TAAAAAA	T	RAD21	c.815-10_815-5del	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868549_117868554del	(Likely) benign	1 lab	5dfde1fa6d
2:44078919 ABCG8 G>A	2	44078919	44078919	G	A	ABCG8	c.519G>A	NM_022437.3	NP_071882.1:p.(Met173Ile)	NC_000002.11:g.44078919G>A	VUS	1 lab	5dff507324
9:130438101 STXBP1 GAT>G	9	130438101	130438103	GAT	G	STXBP1	c.1130_1131del	NM_001032221.6	NP_001027392.1:p.(Asp377GlyfsTer2)	NC_000009.11:g.130438102_130438103del	(Likely) pathogenic	1 lab	5e01c1efca
1:236924377 ACTN2 C>A	1	236924377	236924377	C	A	ACTN2	c.1806C>A	NM_001278344.2	NP_001265273.1:p.(Thr602=)	NC_000001.10:g.236924377C>A	(Likely) benign	1 lab	5e050db29e
4:25127309 SEPSECS T>C	4	25127309	25127309	T	C	SEPSECS	c.1211+7A>G	NM_016955.4	NP_058651.3:p.?	NC_000004.11:g.25127309T>C	(Likely) benign	1 lab	5e07117d37
16:69164969 UTP4 T>Alt too long to show for this DUP	16	69164969	69200000	T	Alt too long to show for this DUP	UTP4				NC_000016.9:g.69164970_69200000dup	VUS	1 lab	5e0bd980fa
2:179531972 TTN G>A	2	179531972	179531972	G	A	TTN	c.35788C>T	NM_001267550.2	NP_001254479.2:p.(Pro11930Ser)	NC_000002.11:g.179531972G>A	VUS	1 lab	5e0c91375a
1:216019192 USH2A C>T	1	216019192	216019192	C	T	USH2A	c.9029G>A	NM_206933.4	NP_996816.3:p.(Gly3010Glu)	NC_000001.10:g.216019192C>T	VUS	1 lab	5e0eb1aa03
10:73583635 PSAP CGACACATACCTGATCCTGCTGTT>C	10	73583635	73583660	CGACACATACCTGATCCTGCTGTT	C	PSAP	c.778-1894_778-1872del	NM_002778.4	NP_002769.1:p.?	NC_000010.10:g.73583638_73583660del	(Likely) benign	1 lab	5e132f2f31
16:11489350 MISSING A>Alt too long to show for this DUP	16	11489350	12245448	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.11489351_12245448dup	VUS	1 lab	5e135174cf
16:3433714 ZSCAN32 G>GA	16	3433714	3433725	G	GA	ZSCAN32	c.1235-4dup	NM_001284527.2	NP_001271456.1:p.?	NC_000016.9:g.3433725dup	(Likely) benign	1 lab	5e14a193cf
4:74318109 MISSING Ref too long to show for this DEL>C	4	74318109	74347530	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.74318110_74347530del	VUS	1 lab	5e18e72003
5:22147 MISSING T>Alt too long to show for this DUP	5	22147	946796	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.22150_946796dup	(Likely) pathogenic	1 lab	5e1c2cd637
2:74597199 DCTN1 G>A	2	74597199	74597199	G	A	DCTN1	c.1288-3C>T	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74597199G>A	(Likely) benign	1 lab	5e1e2d1c31
7:92118740 PEX1 T>C	7	92118740	92118740	T	C	PEX1	c.3013-3A>G	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92118740T>C	VUS	1 lab	5e1f3b8357
2:179412294 TTN T>C	2	179412294	179412294	T	C	TTN	c.94059A>G	NM_001267550.2	NP_001254479.2:p.(Thr31353=)	NC_000002.11:g.179412294T>C	(Likely) benign	1 lab	5e23a97eff
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	5e29a750e9
X:15069608 MISSING G>Alt too long to show for this DUP	X	15069608	15419208	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.15069612_15419208dup	VUS	1 lab	5e2b041e86
11:116703473 APOC3 G>A	11	116703473	116703473	G	A	APOC3	c.180-7G>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703473G>A	(Likely) benign	1 lab	5e2c402b4d
16:81385281 GAN G>C	16	81385281	81385281	G	C	GAN	c.261G>C	NM_022041.4	NP_071324.1:p.(Leu87=)	NC_000016.9:g.81385281G>C	(Likely) benign	1 lab	5e2f73ac94
12:125263053 SCARB1 G>A	12	125263053	125263053	G	A	SCARB1	c.1481C>T	NM_001082959.2	NP_001076428.1:p.(Pro494Leu)	NC_000012.11:g.125263053G>A	(Likely) benign	1 lab	5e2faf7a52
19:16593403 CALR3 A>C	19	16593403	16593403	A	C	CALR3	c.787-11T>G	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16593403A>C	(Likely) benign	1 lab	5e34f8857c
2:58431334 FANCL A>G	2	58431334	58431334	A	G	FANCL	c.402T>C	NM_001114636.1	NP_001108108.1:p.(Ser134=)	NC_000002.11:g.58431334A>G	(Likely) benign	1 lab	5e36c4e8d4
10:85974270 CDHR1 C>A	10	85974270	85974270	C	A	CDHR1	c.2473C>A	NM_033100.4	NP_149091.1:p.(Pro825Thr)	NC_000010.10:g.85974270C>A	(Likely) benign	1 lab	5e38b4a6d7
6:152722413 SYNE1 C>T	6	152722413	152722413	C	T	SYNE1	c.6910G>A	NM_033071.4	NP_149062.2:p.(Gly2304Arg)	NC_000006.11:g.152722413C>T	(Likely) benign	1 lab	5e393fea6e
1:6530435 PLEKHG5 A>G	1	6530435	6530435	A	G	PLEKHG5	c.1681-20T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530435A>G	(Likely) benign	1 lab	5e3f75688a
2:27305314 EMILIN1 G>A	2	27305314	27305314	G	A	EMILIN1	c.875G>A	NM_007046.4	NP_008977.1:p.(Arg292Gln)	NC_000002.11:g.27305314G>A	(Likely) benign	1 lab	5e44601154
2:179487411 TTN G>A	2	179487411	179487411	G	A	TTN	c.44899C>T	NM_001267550.2	NP_001254479.2:p.(Arg14967Ter)	NC_000002.11:g.179487411G>A	(Likely) pathogenic	1 lab	5e45b20f5a
13:32906410 BRCA2 A>C	13	32906410	32906410	A	C	BRCA2	c.795A>C	NM_000059.4	NP_000050.3:p.(Gly265=)	NC_000013.10:g.32906410A>C	(Likely) benign	1 lab	5e465f8102
19:54631768 PRPF31 C>T	19	54631768	54631768	C	T	PRPF31	c.1146+16C>T	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54631768C>T	(Likely) benign	1 lab	5e4f0a0a6f
15:66995806 SMAD6 C>G	15	66995806	66995806	C	G	SMAD6	c.210C>G	NM_005585.5	NP_005576.3:p.(Asp70Glu)	NC_000015.9:g.66995806C>G	VUS	1 lab	5e520fb2bf
16:929426 LMF1 A>G	16	929426	929426	A	G	LMF1	c.498+144T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929426A>G	(Likely) benign	1 lab	5e543e8dca
16:67976931 LCAT G>A	16	67976931	67976931	G	A	LCAT	c.311+28C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976931G>A	(Likely) benign	1 lab	5e5c7503f6
2:108626821 SLC5A7 T>A	2	108626821	108626821	T	A	SLC5A7	c.1247T>A	NM_021815.5	NP_068587.1:p.(Val416Asp)	NC_000002.11:g.108626821T>A	VUS	1 lab	5e5e7c3b9a
8:100182322 VPS13B T>A	8	100182322	100182322	T	A	VPS13B	c.2264T>A	NM_017890.5	NP_060360.3:p.(Leu755Ter)	NC_000008.10:g.100182322T>A	(Likely) pathogenic	1 lab	5e63ff3f2e
6:32036218 TNXB C>T	6	32036218	32036218	C	T	TNXB	c.6169G>A	NM_019105.8	NP_061978.6:p.(Gly2057Ser)	NC_000006.11:g.32036218C>T	VUS	1 lab	5e65e19ad6
10:71139678 HK1 C>T	10	71139678	71139678	C	T	HK1	c.1197C>T	NM_001322365.2	NP_001309294.1:p.(Ser399=)	NC_000010.10:g.71139678C>T	(Likely) benign	1 lab	5e6db4be36
2:44099174 ABCG8 G>T	2	44099174	44099174	G	T	ABCG8	c.1024G>T	NM_022437.3	NP_071882.1:p.(Ala342Ser)	NC_000002.11:g.44099174G>T	VUS	1 lab	5e7526eb7c
12:118020136 KSR2 C>T	12	118020136	118020136	C	T	KSR2	c.1200G>A	NM_173598.6	NP_775869.4:p.(Pro400=)	NC_000012.11:g.118020136C>T	(Likely) benign	1 lab	5e75a6710b
X:53264253 IQSEC2 C>CA	X	53264253	53264254	C	CA	IQSEC2	c.3614dup	NM_001111125.3	NP_001104595.1:p.(Ser1207LeufsTer44)	NC_000023.10:g.53264254dup	(Likely) pathogenic	1 lab	5e79f59317
1:145075854 PDE4DIP G>T	1	145075854	145075854	G	T	PDE4DIP	c.9C>A	NM_022359.7	NP_071754.3:p.(Gly3=)	NC_000001.10:g.145075854G>T	(Likely) benign	1 lab	5e7e40c2c0
6:16144047 MYLIP G>A	6	16144047	16144047	G	A	MYLIP	c.780G>A	NM_013262.4	NP_037394.2:p.(Ala260=)	NC_000006.11:g.16144047G>A	(Likely) benign	1 lab	5e8296deb7
10:18823162 CACNB2 T>C	10	18823162	18823162	T	C	CACNB2	c.1041+6T>C	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18823162T>C	(Likely) benign	1 lab	5e840fef50
16:930010 LMF1 G>C	16	930010	930010	G	C	LMF1	c.730-273C>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.930010G>C	(Likely) benign	1 lab	5e8cc0e78e
15:80845125 ARNT2 TA>T	15	80845125	80845126	TA	T	ARNT2	c.1089+11del	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80845126del	(Likely) benign	1 lab	5e8d079d99
11:116662324 APOA5 GC>G	11	116662324	116662325	GC	G	APOA5	c.138del	NM_052968.5	NP_443200.2:p.(Gln46HisfsTer11)	NC_000011.9:g.116662325del	(Likely) pathogenic	1 lab	5e916f3fb7
6:119245202 MCM9 C>T	6	119245202	119245202	C	T	MCM9	c.395G>A	NM_017696.3	NP_060166.2:p.(Arg132Gln)	NC_000006.11:g.119245202C>T	(Likely) benign	1 lab	5e93d6ff9b
7:150647052 KCNH2 C>T	7	150647052	150647052	C	T	KCNH2	c.2602G>A	NM_172056.2	NP_742053.1:p.(Gly868Ser)	NC_000007.13:g.150647052C>T	VUS	1 lab	5e96b1f945
3:195510023 MUC4 ACAC>A	3	195510023	195510026	ACAC	A	MUC4	c.8425_8427del	NM_018406.7	NP_060876.5:p.(Val2809del)	NC_000003.11:g.195510024_195510026del	(Likely) benign	1 lab	5e99601317
14:45665690 FANCM C>T	14	45665690	45665690	C	T	FANCM	c.5656C>T	NM_020937.4	NP_065988.1:p.(His1886Tyr)	NC_000014.8:g.45665690C>T	(Likely) benign	1 lab	5e9c693dd7
15:48888679 FBN1 C>T	15	48888679	48888679	C	T	FBN1	c.443-104G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48888679C>T	(Likely) benign	1 lab	5e9d5e414a
3:78735032 ROBO1 G>A	3	78735032	78735032	G	A	ROBO1	c.1098C>T	NM_133631.4	NP_598334.2:p.(Ser366=)	NC_000003.11:g.78735032G>A	(Likely) benign	1 lab	5e9e9f5900
2:74123922 ACTG2 A>Alt too long to show for this DUP	2	74123922	74147793	A	Alt too long to show for this DUP	ACTG2				NC_000002.11:g.74123926_74147793dup	VUS	1 lab	5ea7c8f469
15:48712904 FBN1 T>C	15	48712904	48712904	T	C	FBN1	c.7799A>G	NM_000138.5	NP_000129.3:p.(Tyr2600Cys)	NC_000015.9:g.48712904T>C	(Likely) pathogenic	1 lab	5eb48c3248
8:48191103 SPIDR Ref too long to show for this DEL>C	8	48191103	48244375	Ref too long to show for this DEL	C	SPIDR	c.34-1345_525+37756del	NM_001080394.4	NP_001073863.1:p.?	NC_000008.10:g.48191105_48244375del	VUS	1 lab	5eb9617d56
13:95243137 TGDS CTA>C	13	95243137	95243142	CTA	C	TGDS	c.185_186del	NM_001304430.2	NP_001291359.1:p.(Ile62SerfsTer19)	NC_000013.10:g.95243141_95243142del	(Likely) pathogenic	1 lab	5ec053624d
12:21375306 SLCO1B1 GAAAAAAAAA>G	12	21375306	21375332	GAAAAAAAAA	G	SLCO1B1	c.1747+26_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375324_21375332del	(Likely) benign	1 lab	5ec8a25200
11:75905764 WNT11 G>A	11	75905764	75905764	G	A	WNT11	c.444C>T	NM_004626.3	NP_004617.2:p.(Pro148=)	NC_000011.9:g.75905764G>A	(Likely) benign	1 lab	5ec8ec213c
14:64522843 SYNE2 A>G	14	64522843	64522843	A	G	SYNE2	c.9926A>G	NM_182914.3	NP_878918.2:p.(His3309Arg)	NC_000014.8:g.64522843A>G	(Likely) benign	1 lab	5ec9737e2d
2:220147847 DNAJB2 G>A	2	220147847	220147847	G	A	DNAJB2	c.446-8G>A	NM_006736.6	NP_006727.2:p.?	NC_000002.11:g.220147847G>A	(Likely) benign	1 lab	5ed3f13a51
2:179474919 TTN T>G	2	179474919	179474919	T	G	TTN	c.51334A>C	NM_001267550.2	NP_001254479.2:p.(Ile17112Leu)	NC_000002.11:g.179474919T>G	VUS	1 lab	5ed5fbd71d
2:21263875 APOB G>A	2	21263875	21263875	G	A	APOB	c.318C>T	NM_000384.3	NP_000375.3:p.(Asn106=)	NC_000002.11:g.21263875G>A	(Likely) benign	1 lab	5ed821911e
2:179543572 TTN A>G	2	179543572	179543572	A	G	TTN	c.30011-15T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179543572A>G	(Likely) benign	1 lab	5edce508ef
9:32541468 TOPORS G>C	9	32541468	32541468	G	C	TOPORS	c.3055C>G	NM_005802.5	NP_005793.2:p.(Gln1019Glu)	NC_000009.11:g.32541468G>C	VUS	1 lab	5ee48357c6
2:241697021 KIF1A G>A	2	241697021	241697021	G	A	KIF1A	c.2583-10C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241697021G>A	(Likely) benign	1 lab	5ee4a66b57
9:107550298 ABCA1 T>A	9	107550298	107550298	T	A	ABCA1	c.6107A>T	NM_005502.4	NP_005493.2:p.(Lys2036Met)	NC_000009.11:g.107550298T>A	VUS	1 lab	5ee8a351b1
11:18318467 HPS5 G>A	11	18318467	18318467	G	A	HPS5	c.1388C>T	NM_181507.2	NP_852608.1:p.(Ser463Leu)	NC_000011.9:g.18318467G>A	VUS	1 lab	5ee8e1e8d0
1:168073846 GPR161 C>G	1	168073846	168073846	C	G	GPR161	c.243G>C	NM_001349632.1	NP_001336561.1:p.(Leu81=)	NC_000001.10:g.168073846C>G	(Likely) benign	1 lab	5ee9dbf0d3
15:44226025 FRMD5 Ref too long to show for this DEL>A	15	44226025	44275132	Ref too long to show for this DEL	A	FRMD5	c.103-58625_103-9519del	NM_032892.5	NP_116281.2:p.?	NC_000015.9:g.44226026_44275132del	VUS	1 lab	5eeb6efd98
19:55816215 BRSK1 C>A	19	55816215	55816215	C	A	BRSK1	c.1644C>A	NM_032430.2	NP_115806.1:p.(Ala548=)	NC_000019.9:g.55816215C>A	(Likely) benign	1 lab	5eeb726e64
2:179612921 TTN G>A	2	179612921	179612921	G	A	TTN	c.14206C>T	NM_133379.5	NP_596870.2:p.(Leu4736Phe)	NC_000002.11:g.179612921G>A	VUS	1 lab	5ef2554d02
12:49416618 KMT2D G>A	12	49416618	49416618	G	A	KMT2D	c.16093C>T	NM_003482.4	NP_003473.3:p.(Gln5365Ter)	NC_000012.11:g.49416618G>A	(Likely) pathogenic	1 lab	5ef28533aa
11:117280358 CEP164 C>T	11	117280358	117280358	C	T	CEP164	c.3773C>T	NM_014956.5	NP_055771.4:p.(Ser1258Phe)	NC_000011.9:g.117280358C>T	(Likely) benign	1 lab	5ef85b1340
2:179640734 TTN CA>C	2	179640734	179640735	CA	C	TTN	c.5856del	NM_001267550.2	NP_001254479.2:p.(His1952GlnfsTer26)	NC_000002.11:g.179640735del	(Likely) benign	1 lab	5efbff7e60
8:134125846 TG C>T	8	134125846	134125846	C	T	TG	c.7753C>T	NM_003235.5	NP_003226.4:p.(Arg2585Trp)	NC_000008.10:g.134125846C>T	VUS	1 lab	5efc1797d0
2:179666898 TTN GT>G	2	179666898	179666899	GT	G	TTN	c.261del	NM_001267550.2	NP_001254479.2:p.(Gln88LysfsTer10)	NC_000002.11:g.179666899del	VUS	1 lab	5efd4e82e4
7:591066 PRKAR1B C>T	7	591066	591066	C	T	PRKAR1B	c.933G>A	NM_001164761.2	NP_001158233.1:p.(Glu311=)	NC_000007.13:g.591066C>T	(Likely) benign	1 lab	5f05563f1d
2:21233488 APOB A>T	2	21233488	21233488	A	T	APOB	c.6252T>A	NM_000384.3	NP_000375.3:p.(Asn2084Lys)	NC_000002.11:g.21233488A>T	VUS	1 lab	5f0b1468cd
22:32856515 BPIFC Ref too long to show for this DEL>C	22	32856515	32859708	Ref too long to show for this DEL	C	BPIFC	c.-89+654_-1+1045del	NM_174932.3	NP_777592.1:p.?	NC_000022.10:g.32856517_32859708del	VUS	1 lab	5f0ce227da
20:10630167 JAG1 C>T	20	10630167	10630167	C	T	JAG1	c.1348+3G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10630167C>T	(Likely) benign	1 lab	5f0fa2c965
2:179393915 TTN A>G	2	179393915	179393915	A	G	TTN	c.106563T>C	NM_001267550.2	NP_001254479.2:p.(Ser35521=)	NC_000002.11:g.179393915A>G	(Likely) benign	1 lab	5f12d84800
2:88083849 RGPD2 T>C	2	88083849	88083849	T	C	RGPD2	c.2694A>G	NM_001078170.2	NP_001071638.2:p.(Glu898=)	NC_000002.11:g.88083849T>C	(Likely) benign	1 lab	5f143c2184
11:31811460 ELP4 CT>C	11	31811460	31811483	CT	C	ELP4	c.*6506del	NM_001288726.2	NP_001275655.1:p.?	NC_000011.9:g.31811483del	(Likely) benign	1 lab	5f1f126c19
2:179612729 TTN C>A	2	179612729	179612729	C	A	TTN	c.14398G>T	NM_133379.5	NP_596870.2:p.(Gly4800Trp)	NC_000002.11:g.179612729C>A	(Likely) benign	1 lab	5f20750486
X:70444083 GJB1 A>C	X	70444083	70444083	A	C	GJB1	c.526A>C	NM_000166.6	NP_000157.1:p.(Thr176Pro)	NC_000023.10:g.70444083A>C	(Likely) pathogenic	1 lab	5f21d17a30
18:6974895 LAMA1 C>G	18	6974895	6974895	C	G	LAMA1	c.6623+7G>C	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6974895C>G	(Likely) benign	1 lab	5f21f9265c
12:124397851 DNAH10 A>G	12	124397851	124397851	A	G	DNAH10	c.9987A>G	NM_207437.3	NP_997320.2:p.(Ser3329=)	NC_000012.11:g.124397851A>G	(Likely) benign	1 lab	5f23e67584
9:107547835 ABCA1 A>T	9	107547835	107547835	A	T	ABCA1	c.6487T>A	NM_005502.4	NP_005493.2:p.(Phe2163Ile)	NC_000009.11:g.107547835A>T	VUS	1 lab	5f26271ec4
2:179399147 TTN C>T	2	179399147	179399147	C	T	TTN	c.102195G>A	NM_001267550.2	NP_001254479.2:p.(Ser34065=)	NC_000002.11:g.179399147C>T	(Likely) benign	1 lab	5f28cd13ea
19:50747533 MYH14 T>C	19	50747533	50747533	T	C	MYH14	c.1149T>C	NM_001145809.2	NP_001139281.1:p.(Phe383=)	NC_000019.9:g.50747533T>C	(Likely) benign	1 lab	5f29ad65e6
9:137688576 COL5A1 C>T	9	137688576	137688576	C	T	COL5A1	c.2845-118C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688576C>T	(Likely) benign	1 lab	5f39648501
2:44059135 ABCG5 C>G	2	44059135	44059135	C	G	ABCG5	c.353G>C	NM_022436.3	NP_071881.1:p.(Arg118Pro)	NC_000002.11:g.44059135C>G	VUS	1 lab	5f3b6cd7d4
10:74311010 MICU1 A>G	10	74311010	74311010	A	G	MICU1	c.420T>C	NM_001363513.2	NP_001350442.1:p.(Pro140=)	NC_000010.10:g.74311010A>G	(Likely) benign	1 lab	5f43b09288
2:179426560 TTN G>A	2	179426560	179426560	G	A	TTN	c.84299C>T	NM_001267550.2	NP_001254479.2:p.(Thr28100Ile)	NC_000002.11:g.179426560G>A	VUS	1 lab	5f4834278a
7:150645542 KCNH2 G>GCGC	7	150645542	150645546	G	GCGC	KCNH2	c.2679_2681dup	NM_000238.4	NP_000229.1:p.(Arg894dup)	NC_000007.13:g.150645544_150645546dup	VUS	1 lab	5f49bf3f47
2:219679108 CYP27A1 AC>A	2	219679108	219679111	AC	A	CYP27A1	c.1193del	NM_000784.4	NP_000775.1:p.(Pro398LeufsTer10)	NC_000002.11:g.219679111del	VUS	1 lab	5f4b903bd5
19:11231117 LDLR A>T	19	11231117	11231117	A	T	LDLR	c.2059A>T	NM_000527.5	NP_000518.1:p.(Ile687Phe)	NC_000019.9:g.11231117A>T	(Likely) pathogenic	1 lab	5f4cc4a2a9
2:179449117 TTN A>G	2	179449117	179449117	A	G	TTN	c.65161T>C	NM_001267550.2	NP_001254479.2:p.(Cys21721Arg)	NC_000002.11:g.179449117A>G	VUS	1 lab	5f4effcf2c
3:123471160 MYLK G>C	3	123471160	123471160	G	C	MYLK	c.373+18C>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123471160G>C	(Likely) benign	1 lab	5f5115e623
19:11215983 LDLR G>T	19	11215983	11215983	G	T	LDLR	c.401G>T	NM_000527.5	NP_000518.1:p.(Cys134Phe)	NC_000019.9:g.11215983G>T	(Likely) pathogenic	1 lab	5f52b80820
X:135328309 MAP7D3 TA>T	X	135328309	135328319	TA	T	MAP7D3	c.170-3del	NM_001173517.2	NP_001166988.1:p.?	NC_000023.10:g.135328319del	(Likely) benign	1 lab	5f58c47a33
12:64895099 TBK1 G>A	12	64895099	64895099	G	A	TBK1	c.2139-11G>A	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64895099G>A	(Likely) benign	1 lab	5f5a1c5b2c
X:32717343 DMD C>A	X	32717343	32717343	C	A	DMD	c.348G>T	NM_004010.3	NP_004001.1:p.(Leu116Phe)	NC_000023.10:g.32717343C>A	VUS	1 lab	5f5bbe8d77
16:75665483 KARS1 C>T	16	75665483	75665483	C	T	KARS1	c.1167G>A	NM_001130089.2	NP_001123561.1:p.(Met389Ile)	NC_000016.9:g.75665483C>T	VUS	1 lab	5f5f0e0e6c
1:160593979 SLAMF1 G>GA	1	160593979	160593988	G	GA	SLAMF1	c.701-5dup	NM_003037.4	NP_003028.1:p.?	NC_000001.10:g.160593988dup	(Likely) benign	1 lab	5f5fa03a22
21:35742801 KCNE2 A>G	21	35742801	35742801	A	G	KCNE2	c.24A>G	NM_172201.2	NP_751951.1:p.(Thr8=)	NC_000021.8:g.35742801A>G	(Likely) benign	1 lab	5f60c4beac
10:18439808 CACNB2 T>TTTTTTTG	10	18439808	18439810	T	TTTTTTTG	CACNB2	c.37-3_37-2insTTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTTGT	(Likely) benign	1 lab	5f61d2a10b
1:55518528 PCSK9 C>A	1	55518528	55518528	C	A	PCSK9	c.799+64C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55518528C>A	(Likely) benign	1 lab	5f645b907e
6:72922899 RIMS1 C>G	6	72922899	72922899	C	G	RIMS1	c.74C>G	NM_001168407.2	NP_001161879.1:p.(Thr25Arg)	NC_000006.11:g.72922899C>G	VUS	1 lab	5f65a9fd6d
14:88454869 GALC T>TA	14	88454869	88454879	T	TA	GALC	c.196-3dup	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88454879dup	(Likely) benign	1 lab	5f795f6b9b
1:152186422 HRNR A>G	1	152186422	152186422	A	G	HRNR	c.7683T>C	NM_001009931.3	NP_001009931.1:p.(Ser2561=)	NC_000001.10:g.152186422A>G	(Likely) benign	1 lab	5f7a0e25f3
2:238234400 COL6A3 G>A	2	238234400	238234400	G	A	COL6A3	c.9329-33C>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238234400G>A	VUS	1 lab	5f80a32e4e
17:38244770 THRA C>T	17	38244770	38244770	C	T	THRA	c.982+17C>T	NM_199334.5	NP_955366.1:p.?	NC_000017.10:g.38244770C>T	(Likely) benign	1 lab	5f84d3cf67
19:11230651 LDLR AAAC>A	19	11230651	11230656	AAAC	A	LDLR	c.1846-114_1846-112del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230654_11230656del	(Likely) benign	1 lab	5f85c0cbdf
11:75508391 DGAT2 T>C	11	75508391	75508391	T	C	DGAT2	c.809+14T>C	NM_032564.5	NP_115953.2:p.?	NC_000011.9:g.75508391T>C	(Likely) benign	1 lab	5f87ec4c88
2:44059123 ABCG5 C>T	2	44059123	44059123	C	T	ABCG5	c.365G>A	NM_022436.3	NP_071881.1:p.(Arg122Gln)	NC_000002.11:g.44059123C>T	VUS	1 lab	5f8abcb816
2:220494903 SLC4A3 C>CGACTCGCTGGGGAGAAAA	2	220494903	220494922	C	CGACTCGCTGGGGAGAAAA	SLC4A3	c.723_740dup	NM_201574.3	NP_963868.3:p.(Arg241_Lys246dup)	NC_000002.11:g.220494905_220494922dup	(Likely) benign	1 lab	5f8bedc978
16:88799760 PIEZO1 C>T	16	88799760	88799760	C	T	PIEZO1	c.2590G>A	NM_001142864.4	NP_001136336.2:p.(Val864Ile)	NC_000016.9:g.88799760C>T	(Likely) benign	1 lab	5f8e3a0557
3:38926912 SCN11A C>G	3	38926912	38926912	C	G	SCN11A	c.2950-19G>C	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38926912C>G	(Likely) benign	1 lab	5f8e517b6c
7:44191660 GCK Ref too long to show for this DEL>C	7	44191660	44208468	Ref too long to show for this DEL	C	GCK	c.46-15405_363+209del	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44191662_44208468del	VUS	1 lab	5f8f872abd
10:88469696 LDB3 G>A	10	88469696	88469696	G	A	LDB3	c.1135G>A	NM_001171610.2	NP_001165081.1:p.(Ala379Thr)	NC_000010.10:g.88469696G>A	VUS	1 lab	5f928e9c75
2:1520638 TPO C>T	2	1520638	1520638	C	T	TPO	c.2519-17C>T	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1520638C>T	(Likely) benign	1 lab	5f943c104c
16:57003858 CETP C>T	16	57003858	57003858	C	T	CETP	c.472C>T	NM_000078.3	NP_000069.2:p.(Pro158Ser)	NC_000016.9:g.57003858C>T	VUS	1 lab	5f948af57e
2:21233144 APOB G>C	2	21233144	21233144	G	C	APOB	c.6596C>G	NM_000384.3	NP_000375.3:p.(Ala2199Gly)	NC_000002.11:g.21233144G>C	(Likely) benign	1 lab	5f99275c2e
2:152460214 NEB TCA>T	2	152460214	152460216	TCA	T	NEB	c.13130_13131del	NM_001271208.2	NP_001258137.2:p.(Met4377LysfsTer11)	NC_000002.11:g.152460215_152460216del	VUS	1 lab	5f99924e0a
19:55250976 KIR2DL3 T>G	19	55250976	55250976	T	G	KIR2DL3	c.58T>G	NM_015868.3	NP_056952.2:p.(Trp20Gly)	NC_000019.9:g.55250976T>G	(Likely) benign	1 lab	5f9c4fae54
19:11224182 LDLR G>A	19	11224182	11224182	G	A	LDLR	c.1359-29G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224182G>A	(Likely) benign	1 lab	5f9f8bcc46
15:58837515 LIPC G>C	15	58837515	58837515	G	C	LIPC	c.575-426G>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837515G>C	(Likely) benign	1 lab	5fa0996452
4:100532637 MTTP T>C	4	100532637	100532637	T	C	MTTP	c.1989+27T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532637T>C	(Likely) benign	1 lab	5fa37554dc
1:215956248 USH2A C>T	1	215956248	215956248	C	T	USH2A	c.10417G>A	NM_206933.4	NP_996816.3:p.(Glu3473Lys)	NC_000001.10:g.215956248C>T	VUS	1 lab	5fa64c520b
12:50501849 GPD1 C>A	12	50501849	50501849	C	A	GPD1	c.889C>A	NM_005276.4	NP_005267.2:p.(Leu297Met)	NC_000012.11:g.50501849C>A	VUS	1 lab	5fa7421913
6:169625307 THBS2 G>A	6	169625307	169625307	G	A	THBS2	c.2706C>T	NM_003247.5	NP_003238.2:p.(Asn902=)	NC_000006.11:g.169625307G>A	(Likely) benign	1 lab	5fb45955c4
8:144993377 PLEC A>G	8	144993377	144993377	A	G	PLEC	c.11023T>C	NM_201380.4	NP_958782.1:p.(Leu3675=)	NC_000008.10:g.144993377A>G	(Likely) benign	1 lab	5fbbfed139
16:83249898 CDH13 Ref too long to show for this DEL>T	16	83249898	83310326	Ref too long to show for this DEL	T	CDH13	c.484-1051_636+59224del	NM_001257.5	NP_001248.1:p.?	NC_000016.9:g.83249899_83310326del	VUS	1 lab	5fbf3f03a0
15:28096562 OCA2 G>A	15	28096562	28096562	G	A	OCA2	c.2304C>T	NM_000275.3	NP_000266.2:p.(Leu768=)	NC_000015.9:g.28096562G>A	(Likely) benign	1 lab	5fc15eb422
2:179428990 TTN C>G	2	179428990	179428990	C	G	TTN	c.81869G>C	NM_001267550.2	NP_001254479.2:p.(Gly27290Ala)	NC_000002.11:g.179428990C>G	VUS	1 lab	5fc15fb87e
10:135184121 ECHS1 C>G	10	135184121	135184121	C	G	ECHS1	c.229G>C	NM_004092.4	NP_004083.3:p.(Glu77Gln)	NC_000010.10:g.135184121C>G	VUS	1 lab	5fc485e5bc
1:181693636 CACNA1E C>T	1	181693636	181693636	C	T	CACNA1E	c.2105C>T	NM_001205293.3	NP_001192222.1:p.(Ala702Val)	NC_000001.10:g.181693636C>T	(Likely) pathogenic	1 lab	5fc9ff8cc7
11:17414715 ABCC8 T>C	11	17414715	17414715	T	C	ABCC8	c.4612-40A>G	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17414715T>C	(Likely) benign	1 lab	5fcf52f3fe
X:135440250 ADGRG4 A>Alt too long to show for this DUP	X	135440250	135447221	A	Alt too long to show for this DUP	ADGRG4	c.6980+336_7396+1467dup	NM_153834.4	NP_722576.3:p.?	NC_000023.10:g.135440251_135447221dup	VUS	1 lab	5fcff1cc7c
11:47370135 MYBPC3 C>T	11	47370135	47370135	C	T	MYBPC3	c.655-43G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370135C>T	(Likely) benign	1 lab	5fd6085371
19:11240215 LDLR G>T	19	11240215	11240215	G	T	LDLR	c.2416G>T	NM_000527.5	NP_000518.1:p.(Val806Phe)	NC_000019.9:g.11240215G>T	(Likely) benign	1 lab	5fda038d6e
2:21241934 APOB G>A	2	21241934	21241934	G	A	APOB	c.3051C>T	NM_000384.3	NP_000375.3:p.(Ser1017=)	NC_000002.11:g.21241934G>A	(Likely) benign	1 lab	5fe4d13747
7:150644755 KCNH2 C>T	7	150644755	150644755	C	T	KCNH2	c.2904G>A	NM_000238.4	NP_000229.1:p.(Pro968=)	NC_000007.13:g.150644755C>T	(Likely) benign	1 lab	5fe70d844d
10:104315973 MISSING C>Alt too long to show for this DUP	10	104315973	104414452	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.104315977_104414452dup	VUS	1 lab	5fe8c1bf1f
2:47710051 MSH2 T>A	2	47710051	47710051	T	A	MSH2	c.2768T>A	NM_000251.3	NP_000242.1:p.(Val923Glu)	NC_000002.11:g.47710051T>A	VUS	1 lab	5feda89037
2:179594268 TTN C>T	2	179594268	179594268	C	T	TTN	c.18615G>A	NM_001267550.2	NP_001254479.2:p.(Leu6205=)	NC_000002.11:g.179594268C>T	(Likely) benign	1 lab	5fef488f1a
3:53809935 CACNA1D CAGG>C	3	53809935	53809940	CAGG	C	CACNA1D	c.4288_4290del	NM_000720.4	NP_000711.1:p.(Glu1430del)	NC_000003.11:g.53809938_53809940del	VUS	1 lab	5ff3022c3d
19:54622014 PRPF31 G>T	19	54622014	54622014	G	T	PRPF31	c.238+1G>T	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54622014G>T	(Likely) pathogenic	1 lab	6001a9d3f5
8:116427288 TRPS1 T>C	8	116427288	116427288	T	C	TRPS1	c.2848A>G	NM_014112.5	NP_054831.2:p.(Lys950Glu)	NC_000008.10:g.116427288T>C	VUS	1 lab	6001fd5dad
7:157536855 PTPRN2 Ref too long to show for this DEL>G	7	157536855	157758590	Ref too long to show for this DEL	G	PTPRN2	c.1724-67161_1789-61227del	NM_002847.5	NP_002838.2:p.?	NC_000007.13:g.157536856_157758590del	VUS	1 lab	60105be42c
11:68704480 IGHMBP2 G>T	11	68704480	68704480	G	T	IGHMBP2	c.2532G>T	NM_002180.3	NP_002171.2:p.(Ala844=)	NC_000011.9:g.68704480G>T	(Likely) benign	1 lab	60159323b7
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	601931eac5
10:71060622 HK1 G>A	10	71060622	71060622	G	A	HK1	c.27+5G>A	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71060622G>A	(Likely) benign	1 lab	6020a8650a
19:49694029 TRPM4 G>A	19	49694029	49694029	G	A	TRPM4	c.2209G>A	NM_017636.4	NP_060106.2:p.(Gly737Arg)	NC_000019.9:g.49694029G>A	(Likely) benign	1 lab	6021fc26d9
5:1253844 TERT C>T	5	1253844	1253844	C	T	TERT	c.3398G>A	NM_198253.3	NP_937983.2:p.(Ter1133=)	NC_000005.9:g.1253844C>T	(Likely) benign	1 lab	60230f1f32
3:38627153 SCN5A G>GTTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627154	G	GTTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACAA	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627153_38627154insTTGTGTGTGTGTGTGTGTGTGTGTGTGT	(Likely) benign	1 lab	6023b487e0
11:84825579 DLG2 Ref too long to show for this DEL>T	11	84825579	84939445	Ref too long to show for this DEL	T	DLG2	c.186+56819_283-2801del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84825580_84939445del	VUS	1 lab	6027b235f1
7:73481084 ELN C>T	7	73481084	73481084	C	T	ELN	c.2109C>T	NM_000501.4	NP_000492.2:p.(Phe703=)	NC_000007.13:g.73481084C>T	(Likely) benign	1 lab	602864dc06
1:78407819 NEXN C>A	1	78407819	78407819	C	A	NEXN	c.1585C>A	NM_144573.4	NP_653174.3:p.(Gln529Lys)	NC_000001.10:g.78407819C>A	VUS	1 lab	616ede46c9
2:179422900 TTN T>C	2	179422900	179422900	T	C	TTN	c.87181A>G	NM_001267550.2	NP_001254479.2:p.(Asn29061Asp)	NC_000002.11:g.179422900T>C	VUS	1 lab	602b508fa3
X:2970025 ARSF Ref too long to show for this DEL>T	X	2970025	3015418	Ref too long to show for this DEL	T	ARSF	c.-29+10323_968-3710del	NM_001201539.2	NP_001188468.1:p.?	NC_000023.10:g.2970027_3015418del	(Likely) pathogenic	1 lab	602d329b2e
11:116707759 APOA1 T>C	11	116707759	116707759	T	C	APOA1	c.158A>G	NM_001318017.2	NP_001304946.1:p.(Tyr53Cys)	NC_000011.9:g.116707759T>C	VUS	1 lab	603435f6b6
10:47087521 NPY4R C>T	10	47087521	47087521	C	T	NPY4R	c.738C>T	NM_005972.6	NP_005963.4:p.(Arg246=)	NC_000010.10:g.47087521C>T	(Likely) benign	1 lab	603635a706
15:28270051 OCA2 G>C	15	28270051	28270051	G	C	OCA2	c.516-3C>G	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28270051G>C	VUS	1 lab	6036d510d7
6:129601187 LAMA2 C>T	6	129601187	129601187	C	T	LAMA2	c.2451-19C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129601187C>T	(Likely) benign	1 lab	6037966358
11:118968266 DPAGT1 G>A	11	118968266	118968266	G	A	DPAGT1	c.918-5C>T	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118968266G>A	(Likely) benign	1 lab	6037d4b3b2
6:152776540 SYNE1 T>C	6	152776540	152776540	T	C	SYNE1	c.2892+21A>G	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152776540T>C	(Likely) benign	1 lab	603b838211
15:52622694 MYO5A C>T	15	52622694	52622694	C	T	MYO5A	c.4336G>A	NM_000259.3	NP_000250.3:p.(Gly1446Ser)	NC_000015.9:g.52622694C>T	VUS	1 lab	603f9ebc70
12:33031228 PKP2 G>A	12	33031228	33031228	G	A	PKP2	c.586C>T	NM_004572.4	NP_004563.2:p.(Arg196Cys)	NC_000012.11:g.33031228G>A	VUS	1 lab	604c433e69
12:125302250 SCARB1 C>T	12	125302250	125302250	C	T	SCARB1	c.130G>A	NM_001367981.1	NP_001354910.1:p.(Val44Met)	NC_000012.11:g.125302250C>T	VUS	1 lab	605010cebb
2:197084850 HECW2 A>T	2	197084850	197084850	A	T	HECW2	c.4321T>A	NM_020760.4	NP_065811.1:p.(Phe1441Ile)	NC_000002.11:g.197084850A>T	VUS	1 lab	60533c09ba
10:28824556 WAC C>A	10	28824556	28824556	C	A	WAC	c.9C>A	NM_100264.3	NP_567822.1:p.(Asp3Glu)	NC_000010.10:g.28824556C>A	VUS	1 lab	60556b32f3
2:179641468 TTN T>C	2	179641468	179641468	T	C	TTN	c.5123A>G	NM_133378.4	NP_596869.4:p.(Lys1708Arg)	NC_000002.11:g.179641468T>C	VUS	1 lab	605719014d
16:960928 LMF1 T>A	16	960928	960928	T	A	LMF1	c.663+3A>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.960928T>A	VUS	1 lab	605915c98f
4:114275014 ANK2 C>G	4	114275014	114275014	C	G	ANK2	c.5240C>G	NM_001148.6	NP_001139.3:p.(Pro1747Arg)	NC_000004.11:g.114275014C>G	(Likely) benign	1 lab	605aa323c7
12:977545 WNK1 C>T	12	977545	977545	C	T	WNK1	c.2653C>T	NM_001184985.2	NP_001171914.1:p.(Gln885Ter)	NC_000012.11:g.977545C>T	(Likely) pathogenic	1 lab	605bac8c39
2:179416538 TTN C>T	2	179416538	179416538	C	T	TTN	c.91089G>A	NM_001267550.2	NP_001254479.2:p.(Lys30363=)	NC_000002.11:g.179416538C>T	(Likely) benign	1 lab	60642d2136
1:100700972 DBT C>CT	1	100700972	100700978	C	CT	DBT	c.251+19dup	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100700978dup	(Likely) benign	1 lab	6064ac220b
12:125348147 SCARB1 G>A	12	125348147	125348147	G	A	SCARB1	c.120C>T	NM_005505.5	NP_005496.4:p.(Val40=)	NC_000012.11:g.125348147G>A	(Likely) benign	1 lab	6067841dc4
8:19809478 LPL G>A	8	19809478	19809478	G	A	LPL	c.429+19G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19809478G>A	(Likely) benign	1 lab	6069d4e441
6:7567642 DSP G>T	6	7567642	7567642	G	T	DSP	c.1100G>T	NM_004415.4	NP_004406.2:p.(Cys367Phe)	NC_000006.11:g.7567642G>T	VUS	1 lab	606eea48d1
12:125302122 SCARB1 C>T	12	125302122	125302122	C	T	SCARB1	c.258G>A	NM_001367981.1	NP_001354910.1:p.(Val86=)	NC_000012.11:g.125302122C>T	(Likely) benign	1 lab	60722d90cd
8:1842694 ARHGEF10 G>A	8	1842694	1842694	G	A	ARHGEF10	c.1471G>A	NM_001308153.2	NP_001295082.1:p.(Glu491Lys)	NC_000008.10:g.1842694G>A	VUS	1 lab	607266a850
14:23858266 MYH6 T>TG	14	23858266	23858270	T	TG	MYH6	c.3979-3dup	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858270dup	(Likely) benign	1 lab	607299e3c1
9:90475853 MISSING C>Alt too long to show for this DUP	9	90475853	90745359	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.90475854_90745359dup	VUS	1 lab	6078448bf5
3:148899783 CP CGTGAGTA>C	3	148899783	148899790	CGTGAGTA	C	CP	c.2554+2_2554+8del	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148899784_148899790del	(Likely) benign	1 lab	607c12e7f2
2:179424136 TTN T>C	2	179424136	179424136	T	C	TTN	c.86723A>G	NM_001267550.2	NP_001254479.2:p.(Asn28908Ser)	NC_000002.11:g.179424136T>C	VUS	1 lab	608033e445
16:7046159 RBFOX1 Ref too long to show for this DEL>G	16	7046159	7122616	Ref too long to show for this DEL	G	RBFOX1	c.-15-55897_27+20517del	NM_018723.4	NP_061193.2:p.?	NC_000016.9:g.7046161_7122616del	VUS	1 lab	60819fef93
11:68125328 LRP5 G>A	11	68125328	68125328	G	A	LRP5	c.-1080+13G>A	NM_001291902.2	NP_001278831.1:p.?	NC_000011.9:g.68125328G>A	(Likely) benign	1 lab	608a9a92f7
6:32011293 TNXB G>A	6	32011293	32011293	G	A	TNXB	c.11565C>T	NM_019105.8	NP_061978.6:p.(Thr3855=)	NC_000006.11:g.32011293G>A	(Likely) benign	1 lab	608ca37b0c
19:10270746 DNMT1 G>GA	19	10270746	10270757	G	GA	DNMT1	c.1044-8dup	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10270757dup	(Likely) benign	1 lab	608fbb92a5
9:36923502 PAX5 G>A	9	36923502	36923502	G	A	PAX5	c.781-21C>T	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.36923502G>A	(Likely) benign	1 lab	609277f042
9:107578436 ABCA1 C>T	9	107578436	107578436	C	T	ABCA1	c.3726G>A	NM_005502.4	NP_005493.2:p.(Thr1242=)	NC_000009.11:g.107578436C>T	(Likely) benign	1 lab	609646e6b5
1:236900514 ACTN2 G>A	1	236900514	236900514	G	A	ACTN2	c.252G>A	NM_001278344.2	NP_001265273.1:p.(Glu84=)	NC_000001.10:g.236900514G>A	VUS	1 lab	609714ebec
20:54824774 MC3R C>T	20	54824774	54824774	C	T	MC3R	c.875C>T	NM_019888.3	NP_063941.3:p.(Ser292Phe)	NC_000020.10:g.54824774C>T	VUS	1 lab	6099aca4c2
6:160961137 LPA T>C	6	160961137	160961137	T	C	LPA	c.5673A>G	NM_005577.4	NP_005568.2:p.(Ile1891Met)	NC_000006.11:g.160961137T>C	(Likely) pathogenic	1 lab	609df7b5a8
16:1019732 LMF1 T>C	16	1019732	1019732	T	C	LMF1	c.-362+11413A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1019732T>C	(Likely) benign	1 lab	60a1b9dc80
4:22436961 ADGRA3 T>C	4	22436961	22436961	T	C	ADGRA3	c.1416A>G	NM_145290.4	NP_660333.2:p.(Arg472=)	NC_000004.11:g.22436961T>C	(Likely) benign	1 lab	60a3461ce1
3:14171032 TMEM43 C>T	3	14171032	14171032	C	T	TMEM43	c.133C>T	NM_024334.3	NP_077310.1:p.(Leu45Phe)	NC_000003.11:g.14171032C>T	VUS	1 lab	60a3c54ddd
18:47108854 LIPG T>G	18	47108854	47108854	T	G	LIPG	c.1157+2T>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108854T>G	VUS	1 lab	60a45feb4c
19:49703623 TRPM4 G>T	19	49703623	49703623	G	T	TRPM4	c.2712G>T	NM_017636.4	NP_060106.2:p.(Val904=)	NC_000019.9:g.49703623G>T	(Likely) benign	1 lab	60a508bdda
11:2683329 KCNQ1 C>T	11	2683329	2683329	C	T	KCNQ1	c.1514+18C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683329C>T	(Likely) benign	1 lab	60b1334481
5:112111297 APC C>T	5	112111297	112111297	C	T	APC	c.423-29C>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111297C>T	(Likely) benign	1 lab	60b39172e1
14:81610585 TSHR T>C	14	81610585	81610585	T	C	TSHR	c.2183T>C	NM_000369.5	NP_000360.2:p.(Met728Thr)	NC_000014.8:g.81610585T>C	VUS	1 lab	60b70cd654
1:50884784 DMRTA2 G>A	1	50884784	50884784	G	A	DMRTA2	c.1182C>T	NM_032110.3	NP_115486.1:p.(Ala394=)	NC_000001.10:g.50884784G>A	(Likely) benign	1 lab	60bb4ba916
Y:3364282 MISSING G>Alt too long to show for this DUP	Y	3364282	3646904	G	Alt too long to show for this DUP	MISSING				NC_000024.9:g.3364285_3646904dup	VUS	1 lab	60bc33cb49
19:50796514 MYH14 C>A	19	50796514	50796514	C	A	MYH14	c.5281C>A	NM_001145809.2	NP_001139281.1:p.(Arg1761=)	NC_000019.9:g.50796514C>A	(Likely) benign	1 lab	60bf5c064d
3:38833566 SCN10A T>C	3	38833566	38833566	T	C	SCN10A	c.364A>G	NM_006514.4	NP_006505.4:p.(Thr122Ala)	NC_000003.11:g.38833566T>C	VUS	1 lab	60c6fc8ad5
13:20763553 GJB2 CA>C	13	20763553	20763554	CA	C	GJB2	c.167del	NM_004004.6	NP_003995.2:p.(Leu56ArgfsTer26)	NC_000013.10:g.20763554del	(Likely) pathogenic	1 lab	60c7fe82ab
16:2127658 TSC2 T>C	16	2127658	2127658	T	C	TSC2	c.2897T>C	NM_000548.5	NP_000539.2:p.(Phe966Ser)	NC_000016.9:g.2127658T>C	VUS	1 lab	60cc327af0
2:21257688 APOB C>T	2	21257688	21257688	C	T	APOB	c.904G>A	NM_000384.3	NP_000375.3:p.(Gly302Ser)	NC_000002.11:g.21257688C>T	(Likely) pathogenic	1 lab	60ce1da172
2:179639806 TTN C>T	2	179639806	179639806	C	T	TTN	c.6632G>A	NM_001267550.2	NP_001254479.2:p.(Gly2211Asp)	NC_000002.11:g.179639806C>T	VUS	1 lab	60d566e2c7
8:59404318 CYP7A1 T>G	8	59404318	59404318	T	G	CYP7A1	c.1231A>C	NM_000780.4	NP_000771.2:p.(Arg411=)	NC_000008.10:g.59404318T>G	(Likely) benign	1 lab	60d71d4680
16:89352571 ANKRD11 G>C	16	89352571	89352571	G	C	ANKRD11	c.768C>G	NM_001256182.2	NP_001243111.1:p.(Tyr256Ter)	NC_000016.9:g.89352571G>C	(Likely) pathogenic	1 lab	60d8366752
1:55518063 PCSK9 C>T	1	55518063	55518063	C	T	PCSK9	c.636C>T	NM_174936.4	NP_777596.2:p.(Asp212=)	NC_000001.10:g.55518063C>T	(Likely) benign	1 lab	60e2a4df90
12:21370167 SLCO1B1 GT>G	12	21370167	21370169	GT	G	SLCO1B1	c.1614del	NM_006446.5	NP_006437.3:p.(Ala539GlnfsTer5)	NC_000012.11:g.21370169del	(Likely) benign	1 lab	60e54146f9
15:23608817 GOLGA8S ACCC>A	15	23608817	23608822	ACCC	A	GOLGA8S	c.617-5_617-3del	NM_001355465.2	NP_001342394.1:p.?	NC_000015.9:g.23608820_23608822del	(Likely) benign	1 lab	60e5ef804b
5:149264117 PDE6A T>C	5	149264117	149264117	T	C	PDE6A	c.1952A>G	NM_000440.3	NP_000431.2:p.(Asn651Ser)	NC_000005.9:g.149264117T>C	VUS	1 lab	60eb629dbe
11:31811460 ELP4 CTTTTT>C	11	31811460	31811483	CTTTTT	C	ELP4	c.*6502_*6506del	NM_001288726.2	NP_001275655.1:p.?	NC_000011.9:g.31811479_31811483del	(Likely) benign	1 lab	60f07520e5
7:94055755 COL1A2 C>T	7	94055755	94055755	C	T	COL1A2	c.3018C>T	NM_000089.4	NP_000080.2:p.(Gly1006=)	NC_000007.13:g.94055755C>T	(Likely) benign	1 lab	60f25269c3
21:45750787 CFAP410 A>G	21	45750787	45750787	A	G	CFAP410	c.558T>C	NM_001271441.2	NP_001258370.1:p.(Asp186=)	NC_000021.8:g.45750787A>G	(Likely) benign	1 lab	60f3598faa
5:95759089 PCSK1 C>T	5	95759089	95759089	C	T	PCSK1	c.471G>A	NM_000439.5	NP_000430.3:p.(Thr157=)	NC_000005.9:g.95759089C>T	(Likely) benign	1 lab	60f5c866ec
2:21229918 APOB G>A	2	21229918	21229918	G	A	APOB	c.9822C>T	NM_000384.3	NP_000375.3:p.(Phe3274=)	NC_000002.11:g.21229918G>A	(Likely) benign	1 lab	610f6436eb
1:237811749 RYR2 A>G	1	237811749	237811749	A	G	RYR2	c.7348A>G	NM_001035.3	NP_001026.2:p.(Asn2450Asp)	NC_000001.10:g.237811749A>G	VUS	1 lab	611280fdfe
9:107579687 ABCA1 T>C	9	107579687	107579687	T	C	ABCA1	c.3463-2A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579687T>C	(Likely) pathogenic	1 lab	611688b67c
6:56418006 DST C>T	6	56418006	56418006	C	T	DST	c.9227G>A	NM_001144769.5	NP_001138241.1:p.(Cys3076Tyr)	NC_000006.11:g.56418006C>T	(Likely) benign	1 lab	61178eb71c
3:193363413 OPA1 AG>A	3	193363413	193363415	AG	A	OPA1	c.1681+1del	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193363415del	(Likely) pathogenic	1 lab	61189e65b3
16:2124384 TSC2 C>T	16	2124384	2124384	C	T	TSC2	c.2539C>T	NM_000548.5	NP_000539.2:p.(Leu847=)	NC_000016.9:g.2124384C>T	(Likely) benign	1 lab	611cf641fe
19:34833720 MISSING T>Alt too long to show for this DUP	19	34833720	34873870	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.34833721_34873870dup	VUS	1 lab	611dabc0d1
4:15987392 PROM1 G>A	4	15987392	15987392	G	A	PROM1	c.2271C>T	NM_006017.3	NP_006008.1:p.(Ile757=)	NC_000004.11:g.15987392G>A	(Likely) benign	1 lab	611fd139f6
18:44773549 SKOR2 G>GGGT	18	44773549	44773574	G	GGGT	SKOR2	c.2003_2005dup	NM_001278063.4	NP_001264992.1:p.(His668dup)	NC_000018.9:g.44773572_44773574dup	(Likely) benign	1 lab	612444330b
6:99912591 USP45 A>G	6	99912591	99912591	A	G	USP45	c.117T>C	NM_001346029.3	NP_001332958.1:p.(Asn39=)	NC_000006.11:g.99912591A>G	(Likely) benign	1 lab	6125bfa985
12:124320087 DNAH10 G>A	12	124320087	124320087	G	A	DNAH10	c.4548+12G>A	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124320087G>A	(Likely) benign	1 lab	61297f9032
22:41568666 EP300 A>G	22	41568666	41568666	A	G	EP300	c.4616A>G	NM_001429.4	NP_001420.2:p.(Asp1539Gly)	NC_000022.10:g.41568666A>G	VUS	1 lab	612b3e44f0
10:3807486 MISSING Ref too long to show for this DEL>A	10	3807486	3830207	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3807487_3830207del	VUS	1 lab	613153701b
13:36448928 DCLK1 Ref too long to show for this DEL>G	13	36448928	36459644	Ref too long to show for this DEL	G	DCLK1	c.824-14165_824-3452del	NM_001330071.2	NP_001317000.1:p.?	NC_000013.10:g.36448931_36459644del	VUS	1 lab	613ea6cb9f
8:145625775 CPSF1 G>C	8	145625775	145625775	G	C	CPSF1	c.799C>G	NM_013291.3	NP_037423.2:p.(Gln267Glu)	NC_000008.10:g.145625775G>C	(Likely) benign	1 lab	613ec890ed
1:6536053 PLEKHG5 C>T	1	6536053	6536053	C	T	PLEKHG5	c.87G>A	NM_198681.4	NP_941374.3:p.(Pro29=)	NC_000001.10:g.6536053C>T	(Likely) benign	1 lab	613efc2077
12:30822234 IPO8 A>G	12	30822234	30822234	A	G	IPO8	c.1045-18T>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30822234A>G	(Likely) benign	1 lab	614a18ce89
17:66521877 PRKAR1A A>G	17	66521877	66521877	A	G	PRKAR1A	c.550-18A>G	NM_002734.5	NP_002725.1:p.?	NC_000017.10:g.66521877A>G	(Likely) benign	1 lab	6150da5227
5:127728734 FBN2 A>G	5	127728734	127728734	A	G	FBN2	c.1465+94T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127728734A>G	(Likely) benign	1 lab	6157a77b66
17:39976714 FKBP10 G>C	17	39976714	39976714	G	C	FKBP10	c.1256+1G>C	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976714G>C	(Likely) pathogenic	1 lab	615bc07672
X:32867826 DMD T>G	X	32867826	32867826	T	G	DMD	c.-184+19A>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32867826T>G	(Likely) benign	1 lab	615d238f02
5:10265719 CCT5 C>G	5	10265719	10265719	C	G	CCT5	c.*824C>G	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265719C>G	(Likely) benign	1 lab	61623d2119
16:68847374 CDH1 C>T	16	68847374	68847374	C	T	CDH1	c.1296C>T	NM_004360.5	NP_004351.1:p.(Asn432=)	NC_000016.9:g.68847374C>T	(Likely) benign	1 lab	616251b6d8
16:1557606 TELO2 G>A	16	1557606	1557606	G	A	TELO2	c.2296G>A	NM_016111.4	NP_057195.2:p.(Val766Met)	NC_000016.9:g.1557606G>A	(Likely) pathogenic	1 lab	616c91699a
1:236973902 MTR A>AT	1	236973902	236973905	A	AT	MTR	c.502+10dup	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.236973905dup	(Likely) benign	1 lab	616efd0308
8:1871114 ARHGEF10 T>G	8	1871114	1871114	T	G	ARHGEF10	c.2216-16T>G	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1871114T>G	(Likely) benign	1 lab	61746852b6
13:99808949 MISSING G>Alt too long to show for this DUP	13	99808949	100081741	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.99808952_100081741dup	VUS	1 lab	617855c15b
2:96964703 SNRNP200 G>A	2	96964703	96964703	G	A	SNRNP200	c.732C>T	NM_014014.5	NP_054733.2:p.(Leu244=)	NC_000002.11:g.96964703G>A	(Likely) benign	1 lab	6179132f4f
12:122257599 SETD1B C>T	12	122257599	122257599	C	T	SETD1B	c.3708C>T	NM_001353345.2	NP_001340274.1:p.(Ile1236=)	NC_000012.11:g.122257599C>T	(Likely) benign	1 lab	617a6720c1
12:2795388 CACNA1C G>A	12	2795388	2795388	G	A	CACNA1C	c.5986G>A	NM_199460.4	NP_955630.3:p.(Asp1996Asn)	NC_000012.11:g.2795388G>A	VUS	1 lab	617aeca492
15:48752281 FBN1 G>A	15	48752281	48752281	G	A	FBN1	c.5296+162C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752281G>A	(Likely) benign	1 lab	61814268c3
15:58840703 LIPC T>C	15	58840703	58840703	T	C	LIPC	c.983T>C	NM_000236.3	NP_000227.2:p.(Val328Ala)	NC_000015.9:g.58840703T>C	VUS	1 lab	6181dcf0d7
7:5428445 TNRC18 G>A	7	5428445	5428445	G	A	TNRC18	c.1010C>T	NM_001080495.3	NP_001073964.2:p.(Pro337Leu)	NC_000007.13:g.5428445G>A	(Likely) benign	1 lab	618a967c0e
19:11200082 LDLR ACTC>A	19	11200082	11200089	ACTC	A	LDLR				NC_000019.9:g.11200087_11200089del	VUS	1 lab	61a26dbfd1
11:116707013 APOA1 G>A	11	116707013	116707013	G	A	APOA1	c.315C>T	NM_001318017.2	NP_001304946.1:p.(Gly105=)	NC_000011.9:g.116707013G>A	(Likely) benign	1 lab	61a7201995
6:7581173 DSP G>T	6	7581173	7581173	G	T	DSP	c.4750G>T	NM_004415.4	NP_004406.2:p.(Ala1584Ser)	NC_000006.11:g.7581173G>T	VUS	1 lab	61a98dce71
9:137686801 COL5A1 C>T	9	137686801	137686801	C	T	COL5A1	c.2701-127C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137686801C>T	(Likely) benign	1 lab	61ab08a596
2:210840844 UNC80 G>A	2	210840844	210840844	G	A	UNC80	c.8391G>A	NM_032504.2	NP_115893.1:p.(Ala2797=)	NC_000002.11:g.210840844G>A	VUS	1 lab	61ab68dc6d
4:100534313 MTTP TGTGA>T	4	100534313	100534319	TGTGA	T	MTTP	c.2217+19_2217+22del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534316_100534319del	(Likely) benign	1 lab	61ab7647e1
17:263345 LIAT1 C>T	17	263345	263345	C	T	LIAT1	c.711C>T	NM_001013672.5	NP_001013694.4:p.(Pro237=)	NC_000017.10:g.263345C>T	(Likely) benign	1 lab	61b4167389
2:127506201 MISSING Ref too long to show for this DEL>G	2	127506201	127758014	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.127506202_127758014del	VUS	1 lab	61b55b237e
X:24483623 PDK3 G>C	X	24483623	24483623	G	C	PDK3	c.51G>C	NM_001142386.3	NP_001135858.1:p.(Glu17Asp)	NC_000023.10:g.24483623G>C	(Likely) benign	1 lab	61be92c927
18:10762962 PIEZO2 G>A	18	10762962	10762962	G	A	PIEZO2	c.3006C>T	NM_022068.4	NP_071351.2:p.(Leu1002=)	NC_000018.9:g.10762962G>A	(Likely) benign	1 lab	61c6eb6e8f
9:73235082 TRPM3 A>C	9	73235082	73235082	A	C	TRPM3	c.2114T>G	NM_001366147.2	NP_001353076.1:p.(Val705Gly)	NC_000009.11:g.73235082A>C	VUS	1 lab	61c6efca1b
16:72133109 DHX38 G>T	16	72133109	72133109	G	T	DHX38	c.890G>T	NM_014003.4	NP_054722.2:p.(Arg297Leu)	NC_000016.9:g.72133109G>T	VUS	1 lab	61c718b331
2:179432914 TTN A>G	2	179432914	179432914	A	G	TTN	c.70241T>C	NM_133378.4	NP_596869.4:p.(Ile23414Thr)	NC_000002.11:g.179432914A>G	VUS	1 lab	61c98575c7
11:129781986 PRDM10 G>A	11	129781986	129781986	G	A	PRDM10	c.2988C>T	NM_020228.3	NP_064613.2:p.(Ser996=)	NC_000011.9:g.129781986G>A	(Likely) benign	1 lab	61cd25f41c
1:235590559 TBCE G>A	1	235590559	235590559	G	A	TBCE	c.560+5G>A	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235590559G>A	(Likely) benign	1 lab	61d989fd68
7:72608513 MISSING Ref too long to show for this DEL>G	7	72608513	74245601	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.72608516_74245601del	(Likely) pathogenic	1 lab	61da28522d
15:99928058 MISSING Ref too long to show for this DEL>A	15	99928058	99954143	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.99928059_99954143del	VUS	1 lab	61dcf02aec
X:2601529 MISSING C>Alt too long to show for this DUP	X	2601529	3085643	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2601530_3085643dup	VUS	1 lab	61dd157834
16:904551 LMF1 G>C	16	904551	904551	G	C	LMF1	c.1286C>G	NM_001352018.2	NP_001338947.1:p.(Pro429Arg)	NC_000016.9:g.904551G>C	(Likely) benign	1 lab	61df3323c2
8:19797337 LPL G>A	8	19797337	19797337	G	A	LPL	c.88+298G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797337G>A	(Likely) benign	1 lab	61e515cd03
9:107602562 ABCA1 G>T	9	107602562	107602562	G	T	ABCA1	c.1052C>A	NM_005502.4	NP_005493.2:p.(Thr351Lys)	NC_000009.11:g.107602562G>T	VUS	1 lab	61e563b44b
2:64199218 VPS54 G>Alt too long to show for this DUP	2	64199218	64230429	G	Alt too long to show for this DUP	VPS54	c.-21+15643_457+81dup	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64199219_64230429dup	VUS	1 lab	61e565e0a0
19:11348911 DOCK6 A>G	19	11348911	11348911	A	G	DOCK6	c.1713T>C	NM_020812.4	NP_065863.2:p.(Ala571=)	NC_000019.9:g.11348911A>G	(Likely) benign	1 lab	61e7ce96ff
12:122261385 SETD1B G>A	12	122261385	122261385	G	A	SETD1B	c.4900G>A	NM_001353345.2	NP_001340274.1:p.(Glu1634Lys)	NC_000012.11:g.122261385G>A	(Likely) benign	1 lab	61ec723f94
2:21250832 APOB A>G	2	21250832	21250832	A	G	APOB	c.1935T>C	NM_000384.3	NP_000375.3:p.(Leu645=)	NC_000002.11:g.21250832A>G	(Likely) benign	1 lab	61ece17e09
18:10671599 PIEZO2 ATCT>A	18	10671599	10671608	ATCT	A	PIEZO2	c.8181_8183del	NM_022068.4	NP_071351.2:p.(Glu2727del)	NC_000018.9:g.10671606_10671608del	(Likely) pathogenic	1 lab	61ed8ae27d
5:149755350 TCOF1 AAG>A	5	149755350	149755352	AAG	A	TCOF1	c.1772_1773del	NM_001371623.1	NP_001358552.1:p.(Lys591SerfsTer11)	NC_000005.9:g.149755351_149755352del	(Likely) pathogenic	1 lab	61f40faccb
2:44079493 ABCG8 G>C	2	44079493	44079493	G	C	ABCG8	c.562G>C	NM_022437.3	NP_071882.1:p.(Val188Leu)	NC_000002.11:g.44079493G>C	VUS	1 lab	61f677cc31
15:75230320 COX5A G>A	15	75230320	75230320	G	A	COX5A	c.36C>T	NM_004255.4	NP_004246.2:p.(Ala12=)	NC_000015.9:g.75230320G>A	(Likely) benign	1 lab	61f79c6470
15:73615569 HCN4 C>T	15	73615569	73615569	C	T	HCN4	c.2865G>A	NM_005477.3	NP_005468.1:p.(Pro955=)	NC_000015.9:g.73615569C>T	(Likely) benign	1 lab	61fe1a3bb1
20:34092047 CEP250 G>A	20	34092047	34092047	G	A	CEP250	c.5850G>A	NM_007186.6	NP_009117.2:p.(Gln1950=)	NC_000020.10:g.34092047G>A	(Likely) benign	1 lab	62001268d3
2:152348641 NEB C>T	2	152348641	152348641	C	T	NEB	c.25133G>A	NM_001271208.2	NP_001258137.2:p.(Arg8378Gln)	NC_000002.11:g.152348641C>T	VUS	1 lab	620248eefb
12:56437934 RPS26 T>C	12	56437934	56437934	T	C	RPS26	c.344T>C	NM_001029.5	NP_001020.2:p.(Met115Thr)	NC_000012.11:g.56437934T>C	(Likely) pathogenic	1 lab	6202aa9da6
16:1020390 LMF1 A>G	16	1020390	1020390	A	G	LMF1	c.-362+10755T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1020390A>G	(Likely) benign	1 lab	6205436b07
4:100531997 MTTP C>A	4	100531997	100531997	C	A	MTTP	c.1770-303C>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100531997C>A	(Likely) benign	1 lab	62059a83ae
1:214557869 PTPN14 G>A	1	214557869	214557869	G	A	PTPN14	c.1329C>T	NM_005401.5	NP_005392.2:p.(Pro443=)	NC_000001.10:g.214557869G>A	(Likely) benign	1 lab	620af5c5ff
8:145001031 PLEC T>C	8	145001031	145001031	T	C	PLEC	c.4376A>G	NM_201380.4	NP_958782.1:p.(His1459Arg)	NC_000008.10:g.145001031T>C	(Likely) benign	1 lab	620b99bf8b
2:219679444 CYP27A1 G>C	2	219679444	219679444	G	C	CYP27A1	c.1440G>C	NM_000784.4	NP_000775.1:p.(Arg480Ser)	NC_000002.11:g.219679444G>C	(Likely) pathogenic	1 lab	620dc08412
14:64066328 WDR89 C>T	14	64066328	64066328	C	T	WDR89	c.333G>A	NM_001258272.2	NP_001245201.1:p.(Lys111=)	NC_000014.8:g.64066328C>T	(Likely) benign	1 lab	62107373b4
6:10796279 MAK C>T	6	10796279	10796279	C	T	MAK	c.1095G>A	NM_001242957.3	NP_001229886.1:p.(Glu365=)	NC_000006.11:g.10796279C>T	(Likely) benign	1 lab	62157b164c
1:89520574 GBP1 C>A	1	89520574	89520574	C	A	GBP1	c.1472-16G>T	NM_002053.3	NP_002044.2:p.?	NC_000001.10:g.89520574C>A	(Likely) benign	1 lab	621ffe49f0
4:114278432 ANK2 A>G	4	114278432	114278432	A	G	ANK2	c.8658A>G	NM_001148.6	NP_001139.3:p.(Leu2886=)	NC_000004.11:g.114278432A>G	(Likely) benign	1 lab	622279afc3
17:59793376 BRIP1 G>C	17	59793376	59793376	G	C	BRIP1	c.2428C>G	NM_032043.3	NP_114432.2:p.(Leu810Val)	NC_000017.10:g.59793376G>C	VUS	1 lab	622407fe46
3:75788270 ZNF717 A>T	3	75788270	75788270	A	T	ZNF717	c.504T>A	NM_001128223.3	NP_001121695.1:p.(Pro168=)	NC_000003.11:g.75788270A>T	(Likely) benign	1 lab	62246cc956
4:100518247 MTTP C>A	4	100518247	100518247	C	A	MTTP	c.933C>A	NM_000253.4	NP_000244.2:p.(Thr311=)	NC_000004.11:g.100518247C>A	(Likely) benign	1 lab	622b962a0c
10:12142225 DHTKD1 G>A	10	12142225	12142225	G	A	DHTKD1	c.1720G>A	NM_018706.7	NP_061176.4:p.(Ala574Thr)	NC_000010.10:g.12142225G>A	VUS	1 lab	622dcd06b3
2:179611038 TTN C>T	2	179611038	179611038	C	T	TTN	c.16089G>A	NM_133379.5	NP_596870.2:p.(Glu5363=)	NC_000002.11:g.179611038C>T	(Likely) benign	1 lab	622fe8b5ef
18:29104726 DSG2 G>A	18	29104726	29104726	G	A	DSG2	c.889G>A	NM_001943.5	NP_001934.2:p.(Asp297Asn)	NC_000018.9:g.29104726G>A	VUS	1 lab	6230a5b627
2:15506916 NBAS G>T	2	15506916	15506916	G	T	NBAS	c.3704-99C>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15506916G>T	(Likely) benign	1 lab	6233f17695
2:21231482 APOB G>C	2	21231482	21231482	G	C	APOB	c.8258C>G	NM_000384.3	NP_000375.3:p.(Pro2753Arg)	NC_000002.11:g.21231482G>C	VUS	1 lab	6233fe8e4e
1:211652397 RD3 C>G	1	211652397	211652397	C	G	RD3	c.569G>C	NM_183059.3	NP_898882.1:p.(Arg190Pro)	NC_000001.10:g.211652397C>G	VUS	1 lab	623a85d4ed
14:23884670 MYH7 A>T	14	23884670	23884670	A	T	MYH7	c.5203T>A	NM_000257.4	NP_000248.2:p.(Ser1735Thr)	NC_000014.8:g.23884670A>T	VUS	1 lab	6313550279
16:31202698 FUS ATT>A	16	31202698	31202715	ATT	A	FUS	c.1542-6_1542-5del	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31202714_31202715del	(Likely) benign	1 lab	623fa5bb51
2:201267135 MISSING A>Alt too long to show for this DUP	2	201267135	201470489	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.201267136_201470489dup	VUS	1 lab	6243ec338d
5:127648500 FBN2 A>G	5	127648500	127648500	A	G	FBN2	c.4718-13T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127648500A>G	(Likely) benign	1 lab	6244a86cce
1:43215830 P3H1 G>A	1	43215830	43215830	G	A	P3H1	c.1720+27C>T	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43215830G>A	(Likely) benign	1 lab	624d5b94fe
13:32945167 BRCA2 T>C	13	32945167	32945167	T	C	BRCA2	c.8562T>C	NM_000059.4	NP_000050.3:p.(Tyr2854=)	NC_000013.10:g.32945167T>C	(Likely) benign	1 lab	624fc32d8c
2:25046207 ADCY3 C>T	2	25046207	25046207	C	T	ADCY3	c.2754G>A	NM_004036.5	NP_004027.2:p.(Thr918=)	NC_000002.11:g.25046207C>T	(Likely) benign	1 lab	625814a49d
17:72916253 USH1G G>T	17	72916253	72916253	G	T	USH1G	c.678C>A	NM_173477.5	NP_775748.2:p.(Gly226=)	NC_000017.10:g.72916253G>T	(Likely) benign	1 lab	625a69e262
2:97427492 CNNM4 G>C	2	97427492	97427492	G	C	CNNM4	c.756G>C	NM_020184.4	NP_064569.3:p.(Leu252=)	NC_000002.11:g.97427492G>C	(Likely) benign	1 lab	625d52bde8
12:124358200 DNAH10 C>T	12	124358200	124358200	C	T	DNAH10	c.7527C>T	NM_207437.3	NP_997320.2:p.(Tyr2509=)	NC_000012.11:g.124358200C>T	(Likely) benign	1 lab	625eef0ae2
2:189861671 COL3A1 C>T	2	189861671	189861671	C	T	COL3A1	c.1762-220C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861671C>T	(Likely) benign	1 lab	626238daaa
4:6303911 WFS1 G>T	4	6303911	6303911	G	T	WFS1	c.2389G>T	NM_006005.3	NP_005996.2:p.(Asp797Tyr)	NC_000004.11:g.6303911G>T	(Likely) pathogenic	1 lab	62746057fe
16:77356302 ADAMTS18 G>A	16	77356302	77356302	G	A	ADAMTS18	c.2094C>T	NM_199355.4	NP_955387.1:p.(Ser698=)	NC_000016.9:g.77356302G>A	(Likely) benign	1 lab	62755d7c25
4:120057671 MYOZ2 C>CA	4	120057671	120057678	C	CA	MYOZ2	c.-3dup	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057678dup	(Likely) benign	1 lab	627fc6a660
16:67976393 LCAT G>C	16	67976393	67976393	G	C	LCAT	c.621C>G	NM_000229.2	NP_000220.1:p.(Gly207=)	NC_000016.9:g.67976393G>C	(Likely) benign	1 lab	6282e2ccda
14:23245416 SLC7A7 A>G	14	23245416	23245416	A	G	SLC7A7	c.882T>C	NM_001126106.4	NP_001119578.1:p.(Asp294=)	NC_000014.8:g.23245416A>G	(Likely) benign	1 lab	628556b789
X:66943532 AR C>T	X	66943532	66943532	C	T	AR	c.2612C>T	NM_000044.6	NP_000035.2:p.(Ala871Val)	NC_000023.10:g.66943532C>T	(Likely) pathogenic	1 lab	6287ad53b8
2:219677148 CYP27A1 C>T	2	219677148	219677148	C	T	CYP27A1	c.646+4C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677148C>T	VUS	1 lab	628a1cc3f3
1:113063659 MISSING C>Alt too long to show for this DUP	1	113063659	113629170	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.113063662_113629170dup	VUS	1 lab	628c2a6a2b
16:89347747 ANKRD11 G>A	16	89347747	89347747	G	A	ANKRD11	c.5203C>T	NM_001256182.2	NP_001243111.1:p.(Leu1735Phe)	NC_000016.9:g.89347747G>A	VUS	1 lab	628c3419e8
4:123665161 BBS12 C>T	4	123665161	123665161	C	T	BBS12	c.2114C>T	NM_001178007.2	NP_001171478.1:p.(Thr705Met)	NC_000004.11:g.123665161C>T	VUS	1 lab	629560c0ae
10:52913061 PRKG1 A>C	10	52913061	52913061	A	C	PRKG1	c.404A>C	NM_001098512.3	NP_001091982.1:p.(Asp135Ala)	NC_000010.10:g.52913061A>C	VUS	1 lab	629b50471e
2:152440167 NEB G>A	2	152440167	152440167	G	A	NEB	c.15777C>T	NM_001271208.2	NP_001258137.2:p.(Asp5259=)	NC_000002.11:g.152440167G>A	(Likely) benign	1 lab	629bc2d25b
11:132685159 OPCML Ref too long to show for this DEL>G	11	132685159	132764423	Ref too long to show for this DEL	G	OPCML	c.146+48398_146+127661del	NM_001012393.5	NP_001012393.1:p.?	NC_000011.9:g.132685160_132764423del	VUS	1 lab	629c5ccb3d
11:88911771 TYR G>A	11	88911771	88911771	G	A	TYR	c.650G>A	NM_000372.5	NP_000363.1:p.(Arg217Gln)	NC_000011.9:g.88911771G>A	(Likely) pathogenic	1 lab	629d439132
2:21236109 APOB G>C	2	21236109	21236109	G	C	APOB	c.4139C>G	NM_000384.3	NP_000375.3:p.(Thr1380Arg)	NC_000002.11:g.21236109G>C	(Likely) benign	1 lab	629f83a4f1
15:44914151 SPG11 A>ATT	15	44914151	44914164	A	ATT	SPG11	c.2445-21_2445-20dup	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44914163_44914164dup	(Likely) benign	1 lab	62a320b611
12:30809945 IPO8 G>T	12	30809945	30809945	G	T	IPO8	c.1882-261C>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30809945G>T	(Likely) benign	1 lab	62a3550d95
16:88800785 PIEZO1 C>T	16	88800785	88800785	C	T	PIEZO1	c.2159G>A	NM_001142864.4	NP_001136336.2:p.(Arg720His)	NC_000016.9:g.88800785C>T	(Likely) benign	1 lab	62a71e9b3a
6:29911928 HLA-A C>G	6	29911928	29911928	C	G	HLA-A	c.649C>G	NM_002116.8	NP_002107.3:p.(Pro217Ala)	NC_000006.11:g.29911928C>G	(Likely) benign	1 lab	62add98a42
X:135961585 RBMX A>AT	X	135961585	135961586	A	AT	RBMX				NC_000023.10:g.135961586dup	(Likely) benign	1 lab	62ae7f0d61
5:127866272 FBN2 C>T	5	127866272	127866272	C	T	FBN2	c.436+16G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127866272C>T	(Likely) benign	1 lab	62b3586ef3
16:16244419 ABCC6 G>A	16	16244419	16244419	G	A	ABCC6	c.4403+16C>T	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16244419G>A	(Likely) benign	1 lab	62b43e0701
4:100518213 MTTP A>G	4	100518213	100518213	A	G	MTTP	c.910-11A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100518213A>G	(Likely) benign	1 lab	62b935ed59
21:27206770 MISSING Ref too long to show for this DEL>A	21	27206770	27258145	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.27206771_27258145del	VUS	1 lab	62bb82b1f7
10:82947888 MISSING Ref too long to show for this DEL>T	10	82947888	85822740	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.82947890_85822740del	(Likely) pathogenic	1 lab	62bbdcd4a4
1:11082054 TARDBP AG>A	1	11082054	11082055	AG	A	TARDBP	c.715-126del	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11082055del	(Likely) benign	1 lab	62c5329a3f
15:32450790 MISSING Ref too long to show for this DEL>G	15	32450790	32527294	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.32450793_32527294del	(Likely) pathogenic	1 lab	62c908cf4f
19:15297736 NOTCH3 C>T	19	15297736	15297736	C	T	NOTCH3	c.1904G>A	NM_000435.3	NP_000426.2:p.(Arg635His)	NC_000019.9:g.15297736C>T	VUS	1 lab	62d128bb94
11:47363185 MYBPC3 G>A	11	47363185	47363185	G	A	MYBPC3	c.1790+357C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363185G>A	(Likely) benign	1 lab	62d1ca458a
2:21236103 APOB T>C	2	21236103	21236103	T	C	APOB	c.4145A>G	NM_000384.3	NP_000375.3:p.(His1382Arg)	NC_000002.11:g.21236103T>C	(Likely) benign	1 lab	62d4c0ec8e
16:66957443 RRAD G>A	16	66957443	66957443	G	A	RRAD	c.625C>T	NM_001128850.2	NP_001122322.1:p.(Arg209Cys)	NC_000016.9:g.66957443G>A	VUS	1 lab	62d96e9558
2:179455068 TTN C>T	2	179455068	179455068	C	T	TTN	c.61384G>A	NM_001267550.2	NP_001254479.2:p.(Ala20462Thr)	NC_000002.11:g.179455068C>T	VUS	1 lab	62df08fa16
4:36296411 DTHD1 G>C	4	36296411	36296411	G	C	DTHD1	c.1399-6G>C	NM_001170700.3	NP_001164171.2:p.?	NC_000004.11:g.36296411G>C	(Likely) benign	1 lab	62e10ab870
15:44892802 SPG11 A>C	15	44892802	44892802	A	C	SPG11	c.3549T>G	NM_025137.4	NP_079413.3:p.(Ser1183=)	NC_000015.9:g.44892802A>C	(Likely) benign	1 lab	62e1ef041b
2:179428639 TTN A>G	2	179428639	179428639	A	G	TTN	c.82220T>C	NM_001267550.2	NP_001254479.2:p.(Ile27407Thr)	NC_000002.11:g.179428639A>G	VUS	1 lab	62e3aeb7b6
5:74483596 ANKRD31 Ref too long to show for this DEL>C	5	74483596	74523697	Ref too long to show for this DEL	C	ANKRD31	c.178+2690_1564+721del	NM_001372053.1	NP_001358982.1:p.?	NC_000005.9:g.74483597_74523697del	VUS	1 lab	62e3f1e496
15:48729242 FBN1 T>A	15	48729242	48729242	T	A	FBN1	c.6412A>T	NM_000138.5	NP_000129.3:p.(Lys2138Ter)	NC_000015.9:g.48729242T>A	(Likely) pathogenic	1 lab	62e4c3973d
2:179514554 TTN C>T	2	179514554	179514554	C	T	TTN	c.39885G>A	NM_001267550.2	NP_001254479.2:p.(Pro13295=)	NC_000002.11:g.179514554C>T	(Likely) benign	1 lab	62e5c568a7
7:38574558 AMPH T>C	7	38574558	38574558	T	C	AMPH	c.123A>G	NM_001635.4	NP_001626.1:p.(Glu41=)	NC_000007.13:g.38574558T>C	VUS	1 lab	62e650098f
17:15134282 PMP22 CA>C	17	15134282	15134283	CA	C	PMP22	c.434del	NM_001281456.2	NP_001268385.1:p.(Leu145ArgfsTer10)	NC_000017.10:g.15134283del	(Likely) pathogenic	1 lab	62e66dddc8
2:131256794 POTEI T>C	2	131256794	131256794	T	C	POTEI	c.918A>G	NM_001277406.2	NP_001264335.1:p.(Arg306=)	NC_000002.11:g.131256794T>C	(Likely) benign	1 lab	62e7eea9ee
19:50902121 POLD1 C>T	19	50902121	50902121	C	T	POLD1	c.13C>T	NM_001256849.1	NP_001243778.1:p.(Arg5Trp)	NC_000019.9:g.50902121C>T	(Likely) benign	1 lab	62e7fdaf2e
1:33283583 S100PBP G>C	1	33283583	33283583	G	C	S100PBP	c.-120+293G>C	NM_022753.4	NP_073590.2:p.?	NC_000001.10:g.33283583G>C	(Likely) benign	1 lab	62e8c59f1c
10:46342706 AGAP4 C>T	10	46342706	46342706	C	T	AGAP4	c.90G>A	NM_001276343.2	NP_001263272.2:p.(Glu30=)	NC_000010.10:g.46342706C>T	(Likely) benign	1 lab	62ebaee1ee
3:136313544 MISSING G>Alt too long to show for this DUP	3	136313544	136589370	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.136313545_136589370dup	VUS	1 lab	62ef61d3d4
5:133948416 SAR1B G>A	5	133948416	133948416	G	A	SAR1B	c.209C>T	NM_001033503.3	NP_001028675.1:p.(Thr70Met)	NC_000005.9:g.133948416G>A	(Likely) pathogenic	1 lab	62f2c58264
2:47703407 MSH2 C>T	2	47703407	47703407	C	T	MSH2	c.2006-99C>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703407C>T	(Likely) benign	1 lab	62f6c48780
3:129695714 TRH T>C	3	129695714	129695714	T	C	TRH	c.384T>C	NM_007117.5	NP_009048.1:p.(Asp128=)	NC_000003.11:g.129695714T>C	(Likely) benign	1 lab	62fd7a1454
17:1674485 SERPINF1 C>T	17	1674485	1674485	C	T	SERPINF1	c.439+7C>T	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1674485C>T	(Likely) benign	1 lab	630493aff9
2:167138309 SCN9A T>G	2	167138309	167138309	T	G	SCN9A	c.1951A>C	NM_002977.3	NP_002968.1:p.(Asn651His)	NC_000002.11:g.167138309T>G	VUS	1 lab	63049a33bf
6:10775675 MAK CCTT>C	6	10775675	10775681	CCTT	C	MAK	c.1480_1482del	NM_001242957.3	NP_001229886.1:p.(Lys494del)	NC_000006.11:g.10775679_10775681del	(Likely) benign	1 lab	63053a0a53
19:8167590 FBN3 T>C	19	8167590	8167590	T	C	FBN3	c.5089+18A>G	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8167590T>C	(Likely) benign	1 lab	63077e2050
9:130942789 CIZ1 C>T	9	130942789	130942789	C	T	CIZ1	c.786G>A	NM_001257975.2	NP_001244904.1:p.(Pro262=)	NC_000009.11:g.130942789C>T	(Likely) benign	1 lab	6307bedf1a
7:150654366 KCNH2 G>A	7	150654366	150654366	G	A	KCNH2	c.1128+13C>T	NM_000238.4	NP_000229.1:p.?	NC_000007.13:g.150654366G>A	(Likely) benign	1 lab	63081d182f
10:71158493 HK1 G>A	10	71158493	71158493	G	A	HK1	c.2623G>A	NM_001322365.2	NP_001309294.1:p.(Ala875Thr)	NC_000010.10:g.71158493G>A	VUS	1 lab	630991c67e
6:169622491 THBS2 G>A	6	169622491	169622491	G	A	THBS2	c.3074C>T	NM_003247.5	NP_003238.2:p.(Ala1025Val)	NC_000006.11:g.169622491G>A	(Likely) benign	1 lab	6309f78eff
17:29663377 NF1 A>G	17	29663377	29663377	A	G	NF1	c.6033A>G	NM_001042492.3	NP_001035957.1:p.(Leu2011=)	NC_000017.10:g.29663377A>G	(Likely) benign	1 lab	630a8f6d80
5:131545994 P4HA2 C>T	5	131545994	131545994	C	T	P4HA2	c.692G>A	NM_001365679.2	NP_001352608.1:p.(Arg231His)	NC_000005.9:g.131545994C>T	VUS	1 lab	631357b36c
19:11233831 LDLR C>T	19	11233831	11233831	C	T	LDLR	c.2141-19C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233831C>T	(Likely) benign	1 lab	631a82a7c8
4:100503263 MTTP A>G	4	100503263	100503263	A	G	MTTP	c.249+14A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100503263A>G	(Likely) benign	1 lab	631d463d59
8:19805419 LPL T>A	8	19805419	19805419	T	A	LPL	c.89-272T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805419T>A	(Likely) benign	1 lab	63236066b8
11:116661330 APOA5 G>A	11	116661330	116661330	G	A	APOA5	c.615C>T	NM_052968.5	NP_443200.2:p.(His205=)	NC_000011.9:g.116661330G>A	(Likely) benign	1 lab	6327ca21e3
15:85383922 ALPK3 C>T	15	85383922	85383922	C	T	ALPK3	c.1412C>T	NM_020778.5	NP_065829.4:p.(Thr471Ile)	NC_000015.9:g.85383922C>T	VUS	1 lab	6332a10d3e
10:13167364 OPTN Ref too long to show for this DEL>C	10	13167364	13177289	Ref too long to show for this DEL	C	OPTN	c.999-53_1613-1456del	NM_001008212.2	NP_001008213.1:p.?	NC_000010.10:g.13167365_13177289del	VUS	1 lab	6333607543
5:169631466 MISSING A>Alt too long to show for this DUP	5	169631466	169800713	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.169631467_169800713dup	VUS	1 lab	6333d26ebd
17:48653130 CACNA1G G>T	17	48653130	48653130	G	T	CACNA1G	c.1367G>T	NM_018896.5	NP_061496.2:p.(Arg456Leu)	NC_000017.10:g.48653130G>T	(Likely) benign	1 lab	6338ed305c
9:107583706 ABCA1 G>A	9	107583706	107583706	G	A	ABCA1	c.2910C>T	NM_005502.4	NP_005493.2:p.(Thr970=)	NC_000009.11:g.107583706G>A	VUS	1 lab	633c4f5a41
8:26265752 BNIP3L C>T	8	26265752	26265752	C	T	BNIP3L	c.471C>T	NM_004331.3	NP_004322.1:p.(His157=)	NC_000008.10:g.26265752C>T	(Likely) benign	1 lab	63417b686f
8:10474117 RP1L1 G>A	8	10474117	10474117	G	A	RP1L1	c.610-20C>T	NM_178857.6	NP_849188.4:p.?	NC_000008.10:g.10474117G>A	(Likely) benign	1 lab	6343a02f48
8:133883812 TG C>T	8	133883812	133883812	C	T	TG	c.478+16C>T	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133883812C>T	(Likely) benign	1 lab	6346265558
19:40901977 PRX G>A	19	40901977	40901977	G	A	PRX	c.2282C>T	NM_181882.3	NP_870998.2:p.(Pro761Leu)	NC_000019.9:g.40901977G>A	VUS	1 lab	634b041d86
17:41246442 BRCA1 T>G	17	41246442	41246442	T	G	BRCA1	c.1106A>C	NM_007294.4	NP_009225.1:p.(Asp369Ala)	NC_000017.10:g.41246442T>G	(Likely) benign	1 lab	634b4a8f66
18:10699129 PIEZO2 G>T	18	10699129	10699129	G	T	PIEZO2	c.6149C>A	NM_022068.4	NP_071351.2:p.(Ala2050Asp)	NC_000018.9:g.10699129G>T	(Likely) benign	1 lab	63529df82c
11:47356691 MYBPC3 G>A	11	47356691	47356691	G	A	MYBPC3	c.2807C>T	NM_000256.3	NP_000247.2:p.(Thr936Met)	NC_000011.9:g.47356691G>A	VUS	1 lab	63533a5570
12:30787007 IPO8 A>C	12	30787007	30787007	A	C	IPO8	c.2899+10T>G	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30787007A>C	(Likely) benign	1 lab	6359688e9f
1:211832061 NEK2 CAA>C	1	211832061	211832090	CAA	C	NEK2	c.1112-9_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832089_211832090del	(Likely) benign	1 lab	635bbc5920
22:42461483 MISSING G>Alt too long to show for this DUP	22	42461483	42630809	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.42461484_42630809dup	(Likely) pathogenic	1 lab	63607777e0
14:92343964 FBLN5 C>T	14	92343964	92343964	C	T	FBLN5	c.1052G>A	NM_006329.4	NP_006320.2:p.(Arg351Gln)	NC_000014.8:g.92343964C>T	VUS	1 lab	636162adc6
15:48720910 FBN1 G>A	15	48720910	48720910	G	A	FBN1	c.6872-242C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720910G>A	(Likely) benign	1 lab	63629068e3
10:86012598 RGR C>A	10	86012598	86012598	C	A	RGR	c.371-15C>A	NM_002921.4	NP_002912.2:p.?	NC_000010.10:g.86012598C>A	(Likely) benign	1 lab	63638c5bf9
1:43395700 SLC2A1 C>T	1	43395700	43395700	C	T	SLC2A1	c.523G>A	NM_006516.4	NP_006507.2:p.(Gly175Ser)	NC_000001.10:g.43395700C>T	(Likely) pathogenic	1 lab	6365fa7259
16:68853282 CDH1 C>T	16	68853282	68853282	C	T	CDH1	c.1665C>T	NM_004360.5	NP_004351.1:p.(His555=)	NC_000016.9:g.68853282C>T	(Likely) benign	1 lab	6368743b96
4:88344154 NUDT9 C>A	4	88344154	88344154	C	A	NUDT9	c.97C>A	NM_024047.5	NP_076952.1:p.(Gln33Lys)	NC_000004.11:g.88344154C>A	(Likely) benign	1 lab	636c943ab3
5:148406275 SH3TC2 G>A	5	148406275	148406275	G	A	SH3TC2	c.2913C>T	NM_024577.4	NP_078853.2:p.(Ser971=)	NC_000005.9:g.148406275G>A	(Likely) benign	1 lab	6372fd450d
3:129251149 RHO C>A	3	129251149	129251149	C	A	RHO	c.586C>A	NM_000539.3	NP_000530.1:p.(Pro196Thr)	NC_000003.11:g.129251149C>A	VUS	1 lab	637379ee68
17:15142871 PMP22 G>C	17	15142871	15142871	G	C	PMP22	c.236C>G	NM_000304.4	NP_000295.1:p.(Ser79Cys)	NC_000017.10:g.15142871G>C	(Likely) pathogenic	1 lab	637439ed84
12:30827606 IPO8 G>T	12	30827606	30827606	G	T	IPO8	c.811C>A	NM_006390.4	NP_006381.2:p.(Arg271=)	NC_000012.11:g.30827606G>T	(Likely) benign	1 lab	6376a57a92
4:36577627 MISSING Ref too long to show for this DEL>C	4	36577627	39116747	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.36577630_39116747del	VUS	1 lab	637fcb1ed5
16:70292029 AARS1 C>T	16	70292029	70292029	C	T	AARS1	c.2084G>A	NM_001605.3	NP_001596.2:p.(Arg695Gln)	NC_000016.9:g.70292029C>T	VUS	1 lab	6384e35de8
14:23858907 MYH6 G>A	14	23858907	23858907	G	A	MYH6	c.3754C>T	NM_002471.4	NP_002462.2:p.(Arg1252Trp)	NC_000014.8:g.23858907G>A	VUS	1 lab	63888999c8
6:72955509 RIMS1 T>C	6	72955509	72955509	T	C	RIMS1	c.2082-9T>C	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72955509T>C	(Likely) benign	1 lab	6388dedb40
12:122254977 SETD1B C>T	12	122254977	122254977	C	T	SETD1B	c.2754C>T	NM_001353345.2	NP_001340274.1:p.(Asp918=)	NC_000012.11:g.122254977C>T	(Likely) benign	1 lab	638db62ae4
X:135101907 SLC9A6 Ref too long to show for this DEL>A	X	135101907	135108574	Ref too long to show for this DEL	A	SLC9A6	c.1195-2836_1460+1932del	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135101909_135108574del	(Likely) pathogenic	1 lab	6394514126
4:21533488 KCNIP4 Ref too long to show for this DEL>A	4	21533488	21563865	Ref too long to show for this DEL	A	KCNIP4	c.61+386329_61+416705del	NM_025221.6	NP_079497.2:p.?	NC_000004.11:g.21533489_21563865del	VUS	1 lab	6399078bac
21:27254074 APP G>A	21	27254074	27254074	G	A	APP	c.2220C>T	NM_000484.4	NP_000475.1:p.(Ala740=)	NC_000021.8:g.27254074G>A	(Likely) benign	1 lab	639b0775dc
15:71952789 THSD4 T>C	15	71952789	71952789	T	C	THSD4	c.1153-80T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71952789T>C	(Likely) benign	1 lab	639d0dcb85
15:58840930 LIPC T>C	15	58840930	58840930	T	C	LIPC	c.1051+159T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840930T>C	(Likely) benign	1 lab	639dd22fb6
9:35721084 TLN1 T>C	9	35721084	35721084	T	C	TLN1	c.1105-174A>G	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35721084T>C	(Likely) benign	1 lab	639e4d5e45
8:100454760 VPS13B T>G	8	100454760	100454760	T	G	VPS13B	c.3342T>G	NM_017890.5	NP_060360.3:p.(Leu1114=)	NC_000008.10:g.100454760T>G	(Likely) benign	1 lab	639fa61ca5
6:75890932 COL12A1 TTAA>T	6	75890932	75890935	TTAA	T	COL12A1	c.1892-8_1892-6del	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75890933_75890935del	(Likely) benign	1 lab	63a038d819
3:71096183 FOXP1 G>A	3	71096183	71096183	G	A	FOXP1	c.574C>T	NM_001244808.3	NP_001231737.1:p.(Gln192Ter)	NC_000003.11:g.71096183G>A	(Likely) pathogenic	1 lab	63a3bd2db0
15:73616107 HCN4 G>A	15	73616107	73616107	G	A	HCN4	c.2327C>T	NM_005477.3	NP_005468.1:p.(Pro776Leu)	NC_000015.9:g.73616107G>A	VUS	1 lab	63a4265860
13:100637834 ZIC2 C>T	13	100637834	100637834	C	T	ZIC2	c.1497C>T	NM_007129.5	NP_009060.2:p.(Gly499=)	NC_000013.10:g.100637834C>T	(Likely) benign	1 lab	63a6bfd9c6
11:117951829 MISSING T>Alt too long to show for this DUP	11	117951829	118040771	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117951830_118040771dup	VUS	1 lab	63a7a911ae
10:75871748 VCL CCT>C	10	75871748	75871750	CCT	C	VCL	c.2828_2829del	NM_014000.3	NP_054706.1:p.(Pro943ArgfsTer9)	NC_000010.10:g.75871749_75871750del	VUS	1 lab	63a7b3f334
X:73740841 SLC16A2 C>T	X	73740841	73740841	C	T	SLC16A2	c.447C>T	NM_006517.5	NP_006508.2:p.(Leu149=)	NC_000023.10:g.73740841C>T	(Likely) benign	1 lab	63a98603bf
2:21225679 APOB C>T	2	21225679	21225679	C	T	APOB	c.12615G>A	NM_000384.3	NP_000375.3:p.(Pro4205=)	NC_000002.11:g.21225679C>T	(Likely) benign	1 lab	63ae72dc1a
12:59270279 LRIG3 CTGG>C	12	59270279	59270288	CTGG	C	LRIG3	c.2640_2642del	NM_153377.5	NP_700356.2:p.(His880del)	NC_000012.11:g.59270286_59270288del	(Likely) benign	1 lab	63b02bcc5b
10:75849763 VCL C>T	10	75849763	75849763	C	T	VCL	c.1177-18C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75849763C>T	(Likely) benign	1 lab	63be33d9e0
9:3856191 GLIS3 A>G	9	3856191	3856191	A	G	GLIS3	c.2298-7T>C	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.3856191A>G	(Likely) benign	1 lab	63c24a5658
2:21225021 APOB A>G	2	21225021	21225021	A	G	APOB	c.13273T>C	NM_000384.3	NP_000375.3:p.(Tyr4425His)	NC_000002.11:g.21225021A>G	VUS	1 lab	63c283ccf3
9:70177212 FOXD4L5 A>G	9	70177212	70177212	A	G	FOXD4L5	c.772T>C	NM_001126334.1	NP_001119806.1:p.(Cys258Arg)	NC_000009.11:g.70177212A>G	(Likely) benign	1 lab	63d5031b3e
3:48626832 COL7A1 C>T	3	48626832	48626832	C	T	COL7A1	c.2242G>A	NM_000094.4	NP_000085.1:p.(Glu748Lys)	NC_000003.11:g.48626832C>T	(Likely) benign	1 lab	63d7008aaa
16:15813154 MYH11 G>A	16	15813154	15813154	G	A	MYH11	c.5094C>T	NM_002474.3	NP_002465.1:p.(Ala1698=)	NC_000016.9:g.15813154G>A	(Likely) benign	1 lab	63d935edf4
3:196884740 MISSING C>Alt too long to show for this DUP	3	196884740	197356592	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.196884741_197356592dup	VUS	1 lab	63e1bca25c
3:38609206 SCN5A G>A	3	38609206	38609206	G	A	SCN5A	c.3664-1133C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38609206G>A	(Likely) benign	1 lab	63e992c808
3:86251213 MISSING A>Alt too long to show for this DUP	3	86251213	86566659	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.86251214_86566659dup	VUS	1 lab	63ecac5362
2:21238232 APOB A>G	2	21238232	21238232	A	G	APOB	c.3508+10T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238232A>G	(Likely) benign	1 lab	63efd4d184
2:238461049 MLPH C>G	2	238461049	238461049	C	G	MLPH	c.1745C>G	NM_024101.7	NP_077006.1:p.(Ala582Gly)	NC_000002.11:g.238461049C>G	(Likely) benign	1 lab	63f0941fe0
10:121525749 INPP5F Ref too long to show for this DEL>T	10	121525749	121549244	Ref too long to show for this DEL	T	INPP5F	c.178+15085_316-1785del	NM_014937.4	NP_055752.1:p.?	NC_000010.10:g.121525753_121549244del	VUS	1 lab	63f8c66187
8:77896085 PEX2 T>C	8	77896085	77896085	T	C	PEX2	c.330A>G	NM_001172086.2	NP_001165557.2:p.(Thr110=)	NC_000008.10:g.77896085T>C	(Likely) benign	1 lab	63fd32fa83
12:95546605 FGD6 C>Alt too long to show for this DUP	12	95546605	95609618	C	Alt too long to show for this DUP	FGD6	c.16+1383_2666dup	NM_018351.4	NP_060821.3:p.?	NC_000012.11:g.95546606_95609618dup	VUS	1 lab	6401864f5a
2:219646891 CYP27A1 G>A	2	219646891	219646891	G	A	CYP27A1	c.-15G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219646891G>A	VUS	1 lab	64eeb41784
9:79635617 FOXB2 G>A	9	79635617	79635617	G	A	FOXB2	c.1047G>A	NM_001013735.1	NP_001013757.1:p.(Lys349=)	NC_000009.11:g.79635617G>A	(Likely) benign	1 lab	640256f3a8
11:95568535 MTMR2 C>G	11	95568535	95568535	C	G	MTMR2	c.1635G>C	NM_001243571.2	NP_001230500.1:p.(Glu545Asp)	NC_000011.9:g.95568535C>G	VUS	1 lab	6418e15882
X:15734575 MISSING Ref too long to show for this DEL>C	X	15734575	15783383	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.15734576_15783383del	VUS	1 lab	6419abba33
1:237919644 RYR2 T>A	1	237919644	237919644	T	A	RYR2	c.11202T>A	NM_001035.3	NP_001026.2:p.(Arg3734=)	NC_000001.10:g.237919644T>A	(Likely) benign	1 lab	6427b3984c
5:133942678 SAR1B C>T	5	133942678	133942678	C	T	SAR1B	c.559G>A	NM_001033503.3	NP_001028675.1:p.(Gly187Arg)	NC_000005.9:g.133942678C>T	(Likely) pathogenic	1 lab	6428cd07ca
6:70983888 COL9A1 G>T	6	70983888	70983888	G	T	COL9A1	c.1030-103C>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70983888G>T	(Likely) benign	1 lab	642cd8acf5
9:107568711 ABCA1 T>C	9	107568711	107568711	T	C	ABCA1	c.4275A>G	NM_005502.4	NP_005493.2:p.(Pro1425=)	NC_000009.11:g.107568711T>C	(Likely) benign	1 lab	64317b78ed
15:59190996 SLTM C>A	15	59190996	59190996	C	A	SLTM	c.1108+6G>T	NM_024755.4	NP_079031.2:p.?	NC_000015.9:g.59190996C>A	(Likely) benign	1 lab	6435b05242
6:169637883 THBS2 G>A	6	169637883	169637883	G	A	THBS2	c.1137C>T	NM_003247.5	NP_003238.2:p.(Asp379=)	NC_000006.11:g.169637883G>A	(Likely) benign	1 lab	64452e123f
10:75842275 VCL T>G	10	75842275	75842275	T	G	VCL	c.847T>G	NM_003373.4	NP_003364.1:p.(Trp283Gly)	NC_000010.10:g.75842275T>G	VUS	1 lab	644dff953b
5:121412316 LOX T>C	5	121412316	121412316	T	C	LOX	c.740+272A>G	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121412316T>C	(Likely) benign	1 lab	644eea9b37
17:36487146 GPR179 T>C	17	36487146	36487146	T	C	GPR179	c.2306A>G	NM_001004334.4	NP_001004334.3:p.(His769Arg)	NC_000017.10:g.36487146T>C	(Likely) benign	1 lab	64532a1282
2:179639046 TTN T>C	2	179639046	179639046	T	C	TTN	c.6945A>G	NM_001267550.2	NP_001254479.2:p.(Thr2315=)	NC_000002.11:g.179639046T>C	(Likely) benign	1 lab	64577c7857
1:74808681 FPGT-TNNI3K T>C	1	74808681	74808681	T	C	FPGT-TNNI3K	c.1130+11T>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74808681T>C	(Likely) benign	1 lab	645a3942b4
4:128807143 PLK4 C>T	4	128807143	128807143	C	T	PLK4	c.618C>T	NM_014264.5	NP_055079.3:p.(Ile206=)	NC_000004.11:g.128807143C>T	(Likely) benign	1 lab	6462415987
6:56513359 DST G>A	6	56513359	56513359	G	A	DST	c.1455+9C>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56513359G>A	(Likely) benign	1 lab	64654bd9fc
9:107651212 ABCA1 T>C	9	107651212	107651212	T	C	ABCA1	c.160+171A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651212T>C	(Likely) benign	1 lab	64655a2d9e
9:107550757 ABCA1 C>T	9	107550757	107550757	C	T	ABCA1	c.6019G>A	NM_005502.4	NP_005493.2:p.(Val2007Met)	NC_000009.11:g.107550757C>T	(Likely) benign	1 lab	6465f7f374
9:113128844 SVEP1 GA>G	9	113128844	113128858	GA	G	SVEP1	c.10695-5del	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113128858del	(Likely) benign	1 lab	646f854232
21:46929389 COL18A1 C>T	21	46929389	46929389	C	T	COL18A1	c.3369C>T	NM_001379500.1	NP_001366429.1:p.(Ala1123=)	NC_000021.8:g.46929389C>T	(Likely) benign	1 lab	64796e8cc6
2:21252599 APOB A>C	2	21252599	21252599	A	C	APOB	c.1529T>G	NM_000384.3	NP_000375.3:p.(Ile510Ser)	NC_000002.11:g.21252599A>C	(Likely) benign	1 lab	647ed770ac
8:119122302 EXT1 A>G	8	119122302	119122302	A	G	EXT1	c.962+22T>C	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.119122302A>G	(Likely) benign	1 lab	647ffb31a6
19:50770202 MYH14 A>G	19	50770202	50770202	A	G	MYH14	c.2763A>G	NM_001145809.2	NP_001139281.1:p.(Lys921=)	NC_000019.9:g.50770202A>G	(Likely) benign	1 lab	64800a711d
2:73676189 ALMS1 C>G	2	73676189	73676189	C	G	ALMS1	c.2538C>G	NM_015120.4	NP_055935.4:p.(Asp846Glu)	NC_000002.11:g.73676189C>G	(Likely) benign	1 lab	648fa05ca6
2:44066202 ABCG8 A>AT	2	44066202	44066203	A	AT	ABCG8	c.10_11insT	NM_022437.3	NP_071882.1:p.(Lys4IlefsTer23)	NC_000002.11:g.44066202_44066203insT	(Likely) pathogenic	1 lab	649ac5d493
7:107718663 LAMB4 G>T	7	107718663	107718663	G	T	LAMB4	c.1986C>A	NM_007356.3	NP_031382.2:p.(Ala662=)	NC_000007.13:g.107718663G>T	(Likely) benign	1 lab	649e4023b3
1:55512316 PCSK9 C>T	1	55512316	55512316	C	T	PCSK9	c.520C>T	NM_174936.4	NP_777596.2:p.(Pro174Ser)	NC_000001.10:g.55512316C>T	VUS	1 lab	649ed38671
17:41223019 BRCA1 C>A	17	41223019	41223019	C	A	BRCA1	c.4912G>T	NM_007294.4	NP_009225.1:p.(Glu1638Ter)	NC_000017.10:g.41223019C>A	(Likely) pathogenic	1 lab	64b08e5fb6
6:79679616 PHIP G>A	6	79679616	79679616	G	A	PHIP	c.3141C>T	NM_017934.7	NP_060404.4:p.(Asp1047=)	NC_000006.11:g.79679616G>A	(Likely) benign	1 lab	64b0b2a452
8:19809292 LPL T>C	8	19809292	19809292	T	C	LPL	c.262T>C	NM_000237.3	NP_000228.1:p.(Tyr88His)	NC_000008.10:g.19809292T>C	VUS	1 lab	64b2088fdb
9:27197368 TEK T>C	9	27197368	27197368	T	C	TEK	c.1680T>C	NM_000459.5	NP_000450.3:p.(Asn560=)	NC_000009.11:g.27197368T>C	(Likely) benign	1 lab	64bec9417c
15:48755313 FBN1 G>A	15	48755313	48755313	G	A	FBN1	c.5190C>T	NM_000138.5	NP_000129.3:p.(Asn1730=)	NC_000015.9:g.48755313G>A	(Likely) benign	1 lab	64c58ea5a5
8:110523070 PKHD1L1 C>T	8	110523070	110523070	C	T	PKHD1L1	c.11460C>T	NM_177531.6	NP_803875.2:p.(Ser3820=)	NC_000008.10:g.110523070C>T	(Likely) benign	1 lab	64c6f82b71
11:4076828 STIM1 C>T	11	4076828	4076828	C	T	STIM1	c.458C>T	NM_001277961.3	NP_001264890.1:p.(Thr153Ile)	NC_000011.9:g.4076828C>T	VUS	1 lab	64c8ac14cd
3:48623137 COL7A1 C>T	3	48623137	48623137	C	T	COL7A1	c.3817G>A	NM_000094.4	NP_000085.1:p.(Asp1273Asn)	NC_000003.11:g.48623137C>T	(Likely) benign	1 lab	64cf95eb4a
1:197403823 CRB1 C>T	1	197403823	197403823	C	T	CRB1	c.2771-13C>T	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197403823C>T	(Likely) benign	1 lab	64d0f89a1e
3:195511019 MUC4 T>C	3	195511019	195511019	T	C	MUC4	c.7432A>G	NM_018406.7	NP_060876.5:p.(Thr2478Ala)	NC_000003.11:g.195511019T>C	(Likely) benign	1 lab	64d8285e19
5:89938473 ADGRV1 T>C	5	89938473	89938473	T	C	ADGRV1	c.2261T>C	NM_032119.4	NP_115495.3:p.(Val754Ala)	NC_000005.9:g.89938473T>C	VUS	1 lab	64d83b5dfb
3:58109430 FLNB TAAAAAAAAAAAAAAAAAAAAAAAGACAAGC>T	3	58109430	58109460	TAAAAAAAAAAAAAAAAAAAAAAAGACAAGC	T	FLNB	c.3724+14_3724+43del	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58109431_58109460del	(Likely) benign	1 lab	64de750b5f
4:114276402 ANK2 G>A	4	114276402	114276402	G	A	ANK2	c.6628G>A	NM_001148.6	NP_001139.3:p.(Val2210Ile)	NC_000004.11:g.114276402G>A	VUS	1 lab	64e077f80c
21:47703649 MCM3AP G>A	21	47703649	47703649	G	A	MCM3AP	c.1323C>T	NM_003906.5	NP_003897.2:p.(Asn441=)	NC_000021.8:g.47703649G>A	(Likely) benign	1 lab	64e0e3846d
2:238233427 COL6A3 A>G	2	238233427	238233427	A	G	COL6A3	c.9524T>C	NM_004369.4	NP_004360.2:p.(Met3175Thr)	NC_000002.11:g.238233427A>G	(Likely) benign	1 lab	64e1bee62e
11:89501952 MISSING Ref too long to show for this DEL>T	11	89501952	89584459	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.89501953_89584459del	VUS	1 lab	64e1e589ac
1:68910537 RPE65 G>T	1	68910537	68910537	G	T	RPE65	c.275C>A	NM_000329.3	NP_000320.1:p.(Ala92Glu)	NC_000001.10:g.68910537G>T	VUS	1 lab	64e28a6df4
2:44047150 ABCG5 A>G	2	44047150	44047150	A	G	ABCG5	c.1553T>C	NM_022436.3	NP_071881.1:p.(Leu518Pro)	NC_000002.11:g.44047150A>G	(Likely) pathogenic	1 lab	64e2a09140
5:79950724 MSH3 G>C	5	79950724	79950724	G	C	MSH3	c.178G>C	NM_002439.5	NP_002430.3:p.(Ala60Pro)	NC_000005.9:g.79950724G>C	(Likely) benign	1 lab	64e521a2f8
10:112559660 RBM20 A>G	10	112559660	112559660	A	G	RBM20	c.1784A>G	NM_001134363.3	NP_001127835.2:p.(Lys595Arg)	NC_000010.10:g.112559660A>G	VUS	1 lab	64e888c81b
6:16254738 MISSING Ref too long to show for this DEL>T	6	16254738	16345434	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.16254740_16345434del	(Likely) pathogenic	1 lab	64e9418e42
16:15917570 MYH11 C>T	16	15917570	15917570	C	T	MYH11	c.346-302G>A	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15917570C>T	(Likely) benign	1 lab	64f7ce1b3b
4:100522478 MTTP CTTTTTTTTTT>C	4	100522478	100522497	CTTTTTTTTTT	C	MTTP	c.1237-276_1237-267del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522488_100522497del	(Likely) benign	1 lab	64fb38c76f
11:47363087 MYBPC3 G>T	11	47363087	47363087	G	T	MYBPC3	c.1791-292C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363087G>T	(Likely) benign	1 lab	64ff247492
10:101829514 CPN1 C>T	10	101829514	101829514	C	T	CPN1	c.533G>A	NM_001308.3	NP_001299.1:p.(Gly178Asp)	NC_000010.10:g.101829514C>T	(Likely) benign	1 lab	6509503e0d
15:73029293 BBS4 C>T	15	73029293	73029293	C	T	BBS4	c.1439C>T	NM_033028.5	NP_149017.2:p.(Thr480Met)	NC_000015.9:g.73029293C>T	(Likely) benign	1 lab	650d0964b8
14:81610180 TSHR C>T	14	81610180	81610180	C	T	TSHR	c.1778C>T	NM_000369.5	NP_000360.2:p.(Ala593Val)	NC_000014.8:g.81610180C>T	VUS	1 lab	650de0d084
9:111662644 ELP1 C>T	9	111662644	111662644	C	T	ELP1	c.2026G>A	NM_003640.5	NP_003631.2:p.(Gly676Ser)	NC_000009.11:g.111662644C>T	(Likely) benign	1 lab	65167a3f29
3:38595775 SCN5A A>G	3	38595775	38595775	A	G	SCN5A	c.4808T>C	NM_001099404.2	NP_001092874.1:p.(Ile1603Thr)	NC_000003.11:g.38595775A>G	VUS	1 lab	6516a46197
11:116706866 APOA1 C>A	11	116706866	116706866	C	A	APOA1	c.135G>T	NM_001318021.1	NP_001304950.1:p.(Ala45=)	NC_000011.9:g.116706866C>A	(Likely) benign	1 lab	65196cb1a0
8:1844623 ARHGEF10 CT>C	8	1844623	1844633	CT	C	ARHGEF10	c.1632+18del	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1844633del	(Likely) benign	1 lab	651a5c4f49
15:89866634 POLG C>T	15	89866634	89866634	C	T	POLG	c.2265+1G>A	NM_001126131.2	NP_001119603.1:p.?	NC_000015.9:g.89866634C>T	(Likely) pathogenic	1 lab	651eab59bd
3:38601764 SCN5A CA>C	3	38601764	38601767	CA	C	SCN5A	c.4118del	NM_198056.3	NP_932173.1:p.(Leu1373Ter)	NC_000003.11:g.38601767del	(Likely) pathogenic	1 lab	65200069ae
15:48788743 FBN1 T>G	15	48788743	48788743	T	G	FBN1	c.2294-321A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48788743T>G	(Likely) benign	1 lab	6520458f7b
12:102032221 MISSING T>Alt too long to show for this DUP	12	102032221	102099769	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.102032222_102099769dup	VUS	1 lab	65221eb046
3:78700901 ROBO1 G>T	3	78700901	78700901	G	T	ROBO1	c.2685C>A	NM_133631.4	NP_598334.2:p.(Thr895=)	NC_000003.11:g.78700901G>T	(Likely) benign	1 lab	6522d81199
17:74473076 RHBDF2 C>G	17	74473076	74473076	C	G	RHBDF2	c.1038G>C	NM_024599.5	NP_078875.4:p.(Gly346=)	NC_000017.10:g.74473076C>G	(Likely) benign	1 lab	6524cd9556
2:179528398 TTN G>A	2	179528398	179528398	G	A	TTN	c.36488C>T	NM_001267550.2	NP_001254479.2:p.(Ala12163Val)	NC_000002.11:g.179528398G>A	VUS	1 lab	6527ecd5f9
1:55509692 PCSK9 C>T	1	55509692	55509692	C	T	PCSK9	c.384C>T	NM_174936.4	NP_777596.2:p.(Gly128=)	NC_000001.10:g.55509692C>T	(Likely) benign	1 lab	652bbc58e2
6:7580186 DSP A>G	6	7580186	7580186	A	G	DSP	c.3763A>G	NM_004415.4	NP_004406.2:p.(Arg1255Gly)	NC_000006.11:g.7580186A>G	VUS	1 lab	652c34cbd6
2:179594888 TTN C>A	2	179594888	179594888	C	A	TTN	c.18239G>T	NM_001267550.2	NP_001254479.2:p.(Gly6080Val)	NC_000002.11:g.179594888C>A	VUS	1 lab	652fac0719
19:54313345 NLRP12 G>C	19	54313345	54313345	G	C	NLRP12	c.1568C>G	NM_001277129.1	NP_001264058.1:p.(Ala523Gly)	NC_000019.9:g.54313345G>C	VUS	1 lab	653265f9f5
1:16894472 NBPF1 A>G	1	16894472	16894472	A	G	NBPF1	c.2666+2T>C	NM_017940.6	NP_060410.3:p.?	NC_000001.10:g.16894472A>G	(Likely) benign	1 lab	6532cd3ec4
16:88500883 ZNF469 C>T	16	88500883	88500883	C	T	ZNF469	c.7005C>T	NM_001367624.2	NP_001354553.1:p.(Ala2335=)	NC_000016.9:g.88500883C>T	(Likely) benign	1 lab	653dbc3fd3
1:237919648 RYR2 G>A	1	237919648	237919648	G	A	RYR2	c.11206G>A	NM_001035.3	NP_001026.2:p.(Ala3736Thr)	NC_000001.10:g.237919648G>A	VUS	1 lab	65415c3f3b
9:140672497 MISSING Ref too long to show for this DEL>G	9	140672497	141122114	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.140672499_141122114del	(Likely) pathogenic	1 lab	654804f7a1
11:2799254 KCNQ1 G>A	11	2799254	2799254	G	A	KCNQ1	c.1781G>A	NM_000218.3	NP_000209.2:p.(Arg594Gln)	NC_000011.9:g.2799254G>A	(Likely) pathogenic	1 lab	65495772b7
11:78007674 GAB2 Ref too long to show for this DEL>A	11	78007674	78059870	Ref too long to show for this DEL	A	GAB2	c.76-67922_76-15728del	NM_080491.3	NP_536739.1:p.?	NC_000011.9:g.78007676_78059870del	VUS	1 lab	654cd5783e
1:186122972 HMCN1 T>C	1	186122972	186122972	T	C	HMCN1	c.15109T>C	NM_031935.3	NP_114141.2:p.(Tyr5037His)	NC_000001.10:g.186122972T>C	(Likely) benign	1 lab	6552cc578a
X:70443715 GJB1 G>C	X	70443715	70443715	G	C	GJB1	c.158G>C	NM_000166.6	NP_000157.1:p.(Cys53Ser)	NC_000023.10:g.70443715G>C	(Likely) pathogenic	1 lab	655404e70d
20:10632358 JAG1 T>C	20	10632358	10632358	T	C	JAG1	c.1007-16A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10632358T>C	(Likely) benign	1 lab	655475c975
10:53822704 PRKG1 A>G	10	53822704	53822704	A	G	PRKG1	c.935+313A>G	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53822704A>G	(Likely) benign	1 lab	6555902353
19:54515422 CACNG6 G>A	19	54515422	54515422	G	A	CACNG6	c.762G>A	NM_145814.2	NP_665813.1:p.(Lys254=)	NC_000019.9:g.54515422G>A	(Likely) benign	1 lab	65589deaf7
2:179587131 TTN G>A	2	179587131	179587131	G	A	TTN	c.18651C>T	NM_133378.4	NP_596869.4:p.(Asp6217=)	NC_000002.11:g.179587131G>A	(Likely) benign	1 lab	655db428be
9:107573458 ABCA1 C>G	9	107573458	107573458	C	G	ABCA1	c.4051-253G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107573458C>G	(Likely) benign	1 lab	6560cb1386
16:904591 LMF1 G>C	16	904591	904591	G	C	LMF1	c.1645C>G	NM_022773.4	NP_073610.2:p.(Leu549Val)	NC_000016.9:g.904591G>C	VUS	1 lab	6562e7cfcb
19:50333087 MED25 G>C	19	50333087	50333087	G	C	MED25	c.570G>C	NM_030973.4	NP_112235.2:p.(Ala190=)	NC_000019.9:g.50333087G>C	(Likely) benign	1 lab	656adce219
12:21331570 SLCO1B1 G>A	12	21331570	21331570	G	A	SLCO1B1	c.542G>A	NM_006446.5	NP_006437.3:p.(Arg181His)	NC_000012.11:g.21331570G>A	(Likely) benign	1 lab	656dfecee8
18:47089077 LIPG C>T	18	47089077	47089077	C	T	LIPG	c.97+302C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47089077C>T	(Likely) benign	1 lab	65b3175455
2:189909927 COL5A2 C>T	2	189909927	189909927	C	T	COL5A2	c.3341G>A	NM_000393.5	NP_000384.2:p.(Arg1114Gln)	NC_000002.11:g.189909927C>T	(Likely) benign	1 lab	656f502082
18:25543304 CDH2 C>T	18	25543304	25543304	C	T	CDH2	c.2514+17G>A	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25543304C>T	(Likely) benign	1 lab	6576ce0396
3:123166483 ADCY5 C>T	3	123166483	123166483	C	T	ADCY5	c.910G>A	NM_183357.3	NP_899200.1:p.(Ala304Thr)	NC_000003.11:g.123166483C>T	VUS	1 lab	657ca19d40
14:23895310 MYH7 G>T	14	23895310	23895310	G	T	MYH7	c.2045-20C>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23895310G>T	(Likely) benign	1 lab	657e5a5bcf
2:21259759 APOB G>A	2	21259759	21259759	G	A	APOB	c.693+213C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21259759G>A	(Likely) benign	1 lab	657f8bbe26
11:19209713 CSRP3 G>A	11	19209713	19209713	G	A	CSRP3	c.251C>T	NM_003476.5	NP_003467.1:p.(Thr84Met)	NC_000011.9:g.19209713G>A	VUS	1 lab	6580020fd7
8:61777688 CHD7 G>A	8	61777688	61777688	G	A	CHD7	c.8190G>A	NM_017780.4	NP_060250.2:p.(Ala2730=)	NC_000008.10:g.61777688G>A	(Likely) benign	1 lab	6580b6f2b7
16:57007361 CETP T>C	16	57007361	57007361	T	C	CETP	c.869T>C	NM_000078.3	NP_000069.2:p.(Leu290Pro)	NC_000016.9:g.57007361T>C	VUS	1 lab	6582b7e1cb
9:35061589 VCP A>G	9	35061589	35061589	A	G	VCP	c.1179T>C	NM_007126.5	NP_009057.1:p.(Asp393=)	NC_000009.11:g.35061589A>G	(Likely) benign	1 lab	6583d42cdb
4:100532594 MTTP G>T	4	100532594	100532594	G	T	MTTP	c.1973G>T	NM_000253.4	NP_000244.2:p.(Gly658Val)	NC_000004.11:g.100532594G>T	VUS	1 lab	658b3cd4e6
2:73613031 ALMS1 T>TGGAGGAGGAGGAGGA	2	73613031	73613070	T	TGGAGGAGGAGGAGGA	ALMS1	c.66_77dup	NM_015120.4	NP_055935.4:p.(Glu26_Glu29dup)	NC_000002.11:g.73613056_73613070dup	(Likely) benign	1 lab	6591921d7a
2:1802661 MYT1L Ref too long to show for this DEL>G	2	1802661	1857096	Ref too long to show for this DEL	G	MYT1L	c.2712-1621_3276+2806del	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1802662_1857096del	(Likely) pathogenic	1 lab	6591e06337
6:32052216 TNXB C>T	6	32052216	32052216	C	T	TNXB	c.3419G>A	NM_019105.8	NP_061978.6:p.(Gly1140Asp)	NC_000006.11:g.32052216C>T	(Likely) benign	1 lab	65965c8fe0
6:119252799 MCM9 C>T	6	119252799	119252799	C	T	MCM9	c.90G>A	NM_017696.3	NP_060166.2:p.(Lys30=)	NC_000006.11:g.119252799C>T	(Likely) benign	1 lab	659b5bd822
18:25727739 CDH2 C>G	18	25727739	25727739	C	G	CDH2	c.70G>C	NM_001792.5	NP_001783.2:p.(Glu24Gln)	NC_000018.9:g.25727739C>G	VUS	1 lab	659e3dc891
7:128491284 FLNC A>G	7	128491284	128491284	A	G	FLNC	c.5540-2A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128491284A>G	(Likely) pathogenic	1 lab	65a0c8be06
11:68174078 LRP5 G>A	11	68174078	68174078	G	A	LRP5	c.1888G>A	NM_002335.4	NP_002326.2:p.(Gly630Ser)	NC_000011.9:g.68174078G>A	VUS	1 lab	65a2bcbb43
15:73617620 HCN4 G>C	15	73617620	73617620	G	C	HCN4	c.1737+19C>G	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73617620G>C	(Likely) benign	1 lab	65a3601580
12:46245455 ARID2 AC>A	12	46245455	46245457	AC	A	ARID2	c.3551del	NM_152641.4	NP_689854.2:p.(Pro1184LeufsTer4)	NC_000012.11:g.46245457del	(Likely) pathogenic	1 lab	65a71b73a1
11:47372876 MYBPC3 CG>C	11	47372876	47372877	CG	C	MYBPC3	c.205del	NM_000256.3	NP_000247.2:p.(Arg69GlyfsTer27)	NC_000011.9:g.47372877del	(Likely) pathogenic	1 lab	65aa6bef2a
18:7043423 LAMA1 C>T	18	7043423	7043423	C	T	LAMA1	c.977-19G>A	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.7043423C>T	(Likely) benign	1 lab	65b21b37e1
1:116947051 ATP1A1 G>A	1	116947051	116947051	G	A	ATP1A1	c.3057G>A	NM_001160233.2	NP_001153705.1:p.(Lys1019=)	NC_000001.10:g.116947051G>A	(Likely) benign	1 lab	65bbb8741c
16:1004891 LMF1 ATACACATCTAAGTGAACTAGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCGGTGTGTGCATC>A	16	1004891	1004958	ATACACATCTAAGTGAACTAGACACGTTACATAAAATGCGTGCCCGCAGCAGACGCGGTGTGTGCATC	A	LMF1	c.-361-292_-361-226del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004892_1004958del	(Likely) benign	1 lab	65be935169
19:11230402 LDLR G>T	19	11230402	11230402	G	T	LDLR	c.1846-366G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230402G>T	(Likely) benign	1 lab	65c2333292
19:15338117 MISSING Ref too long to show for this DEL>G	19	15338117	16379444	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.15338118_16379444del	(Likely) pathogenic	1 lab	65c26681bd
9:135202119 SETX C>T	9	135202119	135202119	C	T	SETX	c.4866G>A	NM_015046.7	NP_055861.3:p.(Pro1622=)	NC_000009.11:g.135202119C>T	(Likely) benign	1 lab	65c380e066
7:128493795 FLNC G>A	7	128493795	128493795	G	A	FLNC	c.6388G>A	NM_001458.5	NP_001449.3:p.(Gly2130Ser)	NC_000007.13:g.128493795G>A	VUS	1 lab	65c4d53c50
4:108816919 SGMS2 C>G	4	108816919	108816919	C	G	SGMS2	c.210C>G	NM_152621.6	NP_689834.1:p.(Asn70Lys)	NC_000004.11:g.108816919C>G	VUS	1 lab	65c68d3e77
2:189869028 COL3A1 G>A	2	189869028	189869028	G	A	COL3A1	c.2869G>A	NM_000090.4	NP_000081.2:p.(Gly957Ser)	NC_000002.11:g.189869028G>A	(Likely) pathogenic	1 lab	65ca981ea4
12:32949036 PKP2 G>A	12	32949036	32949036	G	A	PKP2	c.2489+7C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949036G>A	(Likely) benign	1 lab	65cb7035bc
2:121747697 GLI2 A>G	2	121747697	121747697	A	G	GLI2	c.4207A>G	NM_001371271.1	NP_001358200.1:p.(Met1403Val)	NC_000002.11:g.121747697A>G	(Likely) benign	1 lab	65cdc02894
X:131762763 HS6ST2 ACT>A	X	131762763	131762766	ACT	A	HS6ST2	c.1424_1425del	NM_001077188.2	NP_001070656.1:p.(Glu475ValfsTer10)	NC_000023.10:g.131762765_131762766del	VUS	1 lab	65d034df9b
1:94512518 ABCA4 T>A	1	94512518	94512518	T	A	ABCA4	c.2875A>T	NM_000350.3	NP_000341.2:p.(Thr959Ser)	NC_000001.10:g.94512518T>A	VUS	1 lab	65d4ef25ee
3:81584268 GBE1 CT>C	3	81584268	81584282	CT	C	GBE1	c.1934+77del	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81584282del	(Likely) benign	1 lab	65d8d491bf
4:100504684 MTTP C>T	4	100504684	100504684	C	T	MTTP	c.393+10C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100504684C>T	(Likely) benign	1 lab	65da42fdfb
1:109479697 CLCC1 A>C	1	109479697	109479697	A	C	CLCC1	c.1383+2T>G	NM_001048210.3	NP_001041675.1:p.?	NC_000001.10:g.109479697A>C	VUS	1 lab	65da4d817c
7:43689041 COA1 T>Alt too long to show for this DUP	7	43689041	43704543	T	Alt too long to show for this DUP	COA1	c.-38-16292_-38-791dup	NM_018224.4	NP_060694.2:p.?	NC_000007.13:g.43689042_43704543dup	VUS	1 lab	65e02ddbfd
18:57122143 CCBE1 G>T	18	57122143	57122143	G	T	CCBE1	c.594C>A	NM_133459.4	NP_597716.1:p.(Cys198Ter)	NC_000018.9:g.57122143G>T	(Likely) pathogenic	1 lab	65e6b7a9ed
12:32955189 PKP2 G>C	12	32955189	32955189	G	C	PKP2	c.2299+148C>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32955189G>C	(Likely) benign	1 lab	65ea96abbc
7:89613894 MISSING Ref too long to show for this DEL>T	7	89613894	94411523	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.89613897_94411523del	(Likely) pathogenic	1 lab	65ed0cccd9
X:32235133 DMD A>T	X	32235133	32235133	A	T	DMD	c.6338T>A	NM_004006.3	NP_003997.2:p.(Ile2113Lys)	NC_000023.10:g.32235133A>T	VUS	1 lab	65f1b9f593
11:118501723 PHLDB1 C>G	11	118501723	118501723	C	G	PHLDB1	c.1828-201C>G	NM_015157.4	NP_055972.1:p.?	NC_000011.9:g.118501723C>G	(Likely) benign	1 lab	65f266b530
2:179600722 TTN T>C	2	179600722	179600722	T	C	TTN	c.14451A>G	NM_001267550.2	NP_001254479.2:p.(Thr4817=)	NC_000002.11:g.179600722T>C	(Likely) benign	1 lab	65f27e9301
15:45409312 DUOXA2 T>C	15	45409312	45409312	T	C	DUOXA2	c.578T>C	NM_207581.4	NP_997464.2:p.(Leu193Pro)	NC_000015.9:g.45409312T>C	VUS	1 lab	65f296a56a
X:70443675 GJB1 G>A	X	70443675	70443675	G	A	GJB1	c.118G>A	NM_000166.6	NP_000157.1:p.(Ala40Thr)	NC_000023.10:g.70443675G>A	(Likely) pathogenic	1 lab	65f4eed71c
11:624867 CDHR5 C>T	11	624867	624867	C	T	CDHR5	c.36G>A	NM_021924.5	NP_068743.3:p.(Leu12=)	NC_000011.9:g.624867C>T	(Likely) benign	1 lab	65fabfb41a
4:74283242 ALB T>C	4	74283242	74283242	T	C	ALB	c.1290-6T>C	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74283242T>C	(Likely) benign	1 lab	65fd43c575
3:38739344 SCN10A G>A	3	38739344	38739344	G	A	SCN10A	c.5367C>T	NM_006514.4	NP_006505.4:p.(Asp1789=)	NC_000003.11:g.38739344G>A	(Likely) benign	1 lab	66039962b8
11:1018281 MUC6 C>A	11	1018281	1018281	C	A	MUC6	c.4520G>T	NM_005961.3	NP_005952.2:p.(Ser1507Ile)	NC_000011.9:g.1018281C>A	(Likely) benign	1 lab	6606e07b4c
2:219674367 CYP27A1 T>G	2	219674367	219674367	T	G	CYP27A1	c.323T>G	NM_000784.4	NP_000775.1:p.(Leu108Arg)	NC_000002.11:g.219674367T>G	VUS	1 lab	66127c0222
9:107556776 ABCA1 T>G	9	107556776	107556776	T	G	ABCA1	c.5398A>C	NM_005502.4	NP_005493.2:p.(Asn1800His)	NC_000009.11:g.107556776T>G	(Likely) pathogenic	1 lab	66155521a1
18:58038755 MC4R A>G	18	58038755	58038755	A	G	MC4R	c.828T>C	NM_005912.3	NP_005903.2:p.(Tyr276=)	NC_000018.9:g.58038755A>G	(Likely) benign	1 lab	661574129f
15:58856222 LIPC G>A	15	58856222	58856222	G	A	LIPC	c.1388+300G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856222G>A	(Likely) benign	1 lab	66189e0a62
7:138601683 KIAA1549 C>T	7	138601683	138601683	C	T	KIAA1549	c.2689G>A	NM_001164665.2	NP_001158137.1:p.(Asp897Asn)	NC_000007.13:g.138601683C>T	(Likely) benign	1 lab	662ad05688
4:100528381 MTTP C>T	4	100528381	100528381	C	T	MTTP	c.1557+264C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100528381C>T	(Likely) benign	1 lab	662d116b6f
X:66766356 AR TGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGC	T	AR	c.1412_1420del	NM_000044.6	NP_000035.2:p.(Gly471_Gly473del)	NC_000023.10:g.66766400_66766408del	(Likely) benign	1 lab	662d3ce4e6
X:119573092 LAMP2 C>G	X	119573092	119573092	C	G	LAMP2	c.1150G>C	NM_013995.2	NP_054701.1:p.(Gly384Arg)	NC_000023.10:g.119573092C>G	(Likely) pathogenic	1 lab	6633561f81
8:19813180 LPL G>A	8	19813180	19813180	G	A	LPL	c.776-172G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813180G>A	(Likely) benign	1 lab	66353a8ff6
2:21252772 APOB G>T	2	21252772	21252772	G	T	APOB	c.1468C>A	NM_000384.3	NP_000375.3:p.(Arg490=)	NC_000002.11:g.21252772G>T	(Likely) benign	1 lab	663abaac80
18:34273314 FHOD3 C>T	18	34273314	34273314	C	T	FHOD3	c.2164C>T	NM_001281740.3	NP_001268669.1:p.(Pro722Ser)	NC_000018.9:g.34273314C>T	(Likely) benign	1 lab	66433368c7
2:21229803 APOB G>C	2	21229803	21229803	G	C	APOB	c.9937C>G	NM_000384.3	NP_000375.3:p.(Leu3313Val)	NC_000002.11:g.21229803G>C	VUS	1 lab	664613e6ca
2:179612182 TTN G>C	2	179612182	179612182	G	C	TTN	c.14945C>G	NM_133379.5	NP_596870.2:p.(Ser4982Cys)	NC_000002.11:g.179612182G>C	(Likely) benign	1 lab	66469a09f3
1:160209836 DCAF8 C>T	1	160209836	160209836	C	T	DCAF8	c.374G>A	NM_015726.4	NP_056541.2:p.(Arg125His)	NC_000001.10:g.160209836C>T	VUS	1 lab	664c5cd09d
2:21232780 APOB A>G	2	21232780	21232780	A	G	APOB	c.6960T>C	NM_000384.3	NP_000375.3:p.(Phe2320=)	NC_000002.11:g.21232780A>G	(Likely) benign	1 lab	664ef99bb1
1:6530189 PLEKHG5 G>A	1	6530189	6530189	G	A	PLEKHG5	c.1800+107C>T	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530189G>A	(Likely) benign	1 lab	664f0c7b6b
2:179574443 TTN G>T	2	179574443	179574443	G	T	TTN	c.24871C>A	NM_133378.4	NP_596869.4:p.(Gln8291Lys)	NC_000002.11:g.179574443G>T	VUS	1 lab	665198b753
11:47254530 DDB2 G>A	11	47254530	47254530	G	A	DDB2	c.602+20G>A	NM_000107.3	NP_000098.1:p.?	NC_000011.9:g.47254530G>A	(Likely) benign	1 lab	66548f9fc2
X:70443984 GJB1 CT>C	X	70443984	70443985	CT	C	GJB1	c.428del	NM_000166.6	NP_000157.1:p.(Leu143ArgfsTer53)	NC_000023.10:g.70443985del	(Likely) pathogenic	1 lab	66560ec80c
10:18439808 CACNB2 T>TTTTTTTTTTG	10	18439808	18439810	T	TTTTTTTTTTG	CACNB2	c.37-3_37-2insTTTTTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTTTTTGT	(Likely) benign	1 lab	6656af66c6
16:23646574 PALB2 ACT>A	16	23646574	23646578	ACT	A	PALB2	c.1291_1292del	NM_024675.4	NP_078951.2:p.(His432PhefsTer9)	NC_000016.9:g.23646577_23646578del	(Likely) pathogenic	1 lab	6657648924
16:70299420 AARS1 T>C	16	70299420	70299420	T	C	AARS1	c.1347+21A>G	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70299420T>C	(Likely) benign	1 lab	6658174f13
8:19818236 LPL T>G	8	19818236	19818236	T	G	LPL	c.1140-176T>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818236T>G	(Likely) benign	1 lab	665f98ad61
1:2985861 PRDM16 G>A	1	2985861	2985861	G	A	PRDM16	c.37+1G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.2985861G>A	(Likely) pathogenic	1 lab	666005bb33
8:22059323 BMP1 C>T	8	22059323	22059323	C	T	BMP1	c.2115C>T	NM_006129.5	NP_006120.1:p.(Asp705=)	NC_000008.10:g.22059323C>T	(Likely) benign	1 lab	666135611a
8:1806045 ARHGEF10 GATCT>G	8	1806045	1806093	GATCT	G	ARHGEF10	c.110-36_110-33del	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1806090_1806093del	(Likely) benign	1 lab	66738842be
8:144995928 PLEC G>A	8	144995928	144995928	G	A	PLEC	c.8472C>T	NM_201380.4	NP_958782.1:p.(Asp2824=)	NC_000008.10:g.144995928G>A	(Likely) benign	1 lab	667c5f89e6
12:125296442 SCARB1 C>T	12	125296442	125296442	C	T	SCARB1	c.700G>A	NM_005505.5	NP_005496.4:p.(Val234Met)	NC_000012.11:g.125296442C>T	VUS	1 lab	6684ffb219
1:245851663 KIF26B C>T	1	245851663	245851663	C	T	KIF26B	c.5378C>T	NM_018012.4	NP_060482.2:p.(Ser1793Leu)	NC_000001.10:g.245851663C>T	(Likely) benign	1 lab	6686ea539b
11:6655264 DCHS1 G>A	11	6655264	6655264	G	A	DCHS1	c.1987-13C>T	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6655264G>A	(Likely) benign	1 lab	6687533e2c
2:179454345 TTN A>G	2	179454345	179454345	A	G	TTN	c.62107T>C	NM_001267550.2	NP_001254479.2:p.(Tyr20703His)	NC_000002.11:g.179454345A>G	VUS	1 lab	669347c3cf
2:179597157 TTN C>T	2	179597157	179597157	C	T	TTN	c.16621+10G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597157C>T	(Likely) benign	1 lab	6695d2ecef
13:32890665 BRCA2 G>A	13	32890665	32890665	G	A	BRCA2	c.67+1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890665G>A	(Likely) pathogenic	1 lab	669b16bd30
1:55521705 PCSK9 T>C	1	55521705	55521705	T	C	PCSK9	c.839T>C	NM_174936.4	NP_777596.2:p.(Val280Ala)	NC_000001.10:g.55521705T>C	(Likely) benign	1 lab	669b356bc6
16:72831357 ZFHX3 C>CTTG	16	72831357	72831387	C	CTTG	ZFHX3	c.5221_5223dup	NM_001386735.1	NP_001373664.1:p.(Gln1741dup)	NC_000016.9:g.72831385_72831387dup	(Likely) benign	1 lab	669f420c72
1:236990141 MTR G>A	1	236990141	236990141	G	A	MTR	c.940G>A	NM_000254.3	NP_000245.2:p.(Asp314Asn)	NC_000001.10:g.236990141G>A	(Likely) benign	1 lab	66a4be0765
1:92941669 GFI1 A>G	1	92941669	92941669	A	G	GFI1	c.1186T>C	NM_005263.5	NP_005254.2:p.(Phe396Leu)	NC_000001.10:g.92941669A>G	VUS	1 lab	66a9f50c25
2:21224927 APOB G>A	2	21224927	21224927	G	A	APOB	c.13367C>T	NM_000384.3	NP_000375.3:p.(Thr4456Ile)	NC_000002.11:g.21224927G>A	(Likely) benign	1 lab	66aac4f37a
7:635834 PRKAR1B C>T	7	635834	635834	C	T	PRKAR1B	c.657G>A	NM_001164761.2	NP_001158233.1:p.(Thr219=)	NC_000007.13:g.635834C>T	(Likely) benign	1 lab	66af218dcf
12:133209160 POLE G>A	12	133209160	133209160	G	A	POLE	c.6137-66C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133209160G>A	(Likely) benign	1 lab	66b0b8a380
11:116708254 APOA1 G>A	11	116708254	116708254	G	A	APOA1	c.-21+67C>T	NM_000039.3	NP_000030.1:p.?	NC_000011.9:g.116708254G>A	(Likely) benign	1 lab	66b523d10b
19:11227326 LDLR C>G	19	11227326	11227326	C	G	LDLR	c.1706-209C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227326C>G	(Likely) benign	1 lab	66be4aaf5f
6:100838398 SIM1 T>C	6	100838398	100838398	T	C	SIM1	c.2140A>G	NM_005068.3	NP_005059.2:p.(Thr714Ala)	NC_000006.11:g.100838398T>C	VUS	1 lab	66c6903efa
X:136649607 ZIC3 T>C	X	136649607	136649607	T	C	ZIC3	c.757T>C	NM_003413.4	NP_003404.1:p.(Cys253Arg)	NC_000023.10:g.136649607T>C	(Likely) pathogenic	1 lab	66c9e6874e
3:75786483 ZNF717 C>A	3	75786483	75786483	C	A	ZNF717	c.2291G>T	NM_001128223.3	NP_001121695.1:p.(Gly764Val)	NC_000003.11:g.75786483C>A	(Likely) benign	1 lab	66cb7aa3e0
19:50789967 MYH14 G>A	19	50789967	50789967	G	A	MYH14	c.4752+16G>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50789967G>A	(Likely) benign	1 lab	66cbca0057
11:76903245 MYO7A C>T	11	76903245	76903245	C	T	MYO7A	c.4074C>T	NM_000260.4	NP_000251.3:p.(Ser1358=)	NC_000011.9:g.76903245C>T	(Likely) benign	1 lab	66cbea0ee6
5:138119081 CTNNA1 T>G	5	138119081	138119081	T	G	CTNNA1	c.301+20T>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138119081T>G	(Likely) benign	1 lab	66ccada50b
19:55341710 KIR3DL1 AAAG>A	19	55341710	55341713	AAAG	A	KIR3DL1	c.1316_1318del	NM_013289.3	NP_037421.2:p.(Lys439_Val440delinsIle)	NC_000019.9:g.55341711_55341713del	(Likely) benign	1 lab	66d1cc7349
1:46659104 POMGNT1 T>C	1	46659104	46659104	T	C	POMGNT1	c.1027-44A>G	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46659104T>C	(Likely) benign	1 lab	66d797c4db
17:19702892 ULK2 C>CA	17	19702892	19702910	C	CA	ULK2	c.1442-5dup	NM_014683.4	NP_055498.3:p.?	NC_000017.10:g.19702910dup	(Likely) benign	1 lab	66dee49bb9
1:25893321 LDLRAP1 C>T	1	25893321	25893321	C	T	LDLRAP1	c.783-18C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893321C>T	(Likely) benign	1 lab	66e4a34fed
X:32662262 DMD C>T	X	32662262	32662262	C	T	DMD	c.949G>A	NM_004010.3	NP_004001.1:p.(Glu317Lys)	NC_000023.10:g.32662262C>T	(Likely) benign	1 lab	66f63914a8
2:179307987 PRKRA TAA>T	2	179307987	179307989	TAA	T	PRKRA	c.481+5_481+6del	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179307988_179307989del	(Likely) benign	1 lab	66f7af4fa0
10:112572437 RBM20 G>A	10	112572437	112572437	G	A	RBM20	c.2282G>A	NM_001134363.3	NP_001127835.2:p.(Arg761Gln)	NC_000010.10:g.112572437G>A	VUS	1 lab	66fa2f3925
5:65212768 MISSING C>Alt too long to show for this DUP	5	65212768	65341824	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.65212769_65341824dup	VUS	1 lab	66fc54f3a0
2:44040261 ABCG5 G>A	2	44040261	44040261	G	A	ABCG5	c.1950C>T	NM_022436.3	NP_071881.1:p.(Ser650=)	NC_000002.11:g.44040261G>A	VUS	1 lab	66feeb1b70
11:6652603 DCHS1 C>T	11	6652603	6652603	C	T	DCHS1	c.3711G>A	NM_003737.4	NP_003728.1:p.(Thr1237=)	NC_000011.9:g.6652603C>T	(Likely) benign	1 lab	6704064ada
6:32714117 HLA-DQA2 C>G	6	32714117	32714117	C	G	HLA-DQA2	c.714C>G	NM_020056.5	NP_064440.1:p.(Phe238Leu)	NC_000006.11:g.32714117C>G	(Likely) benign	1 lab	6706827e39
10:89725043 PTEN G>A	10	89725043	89725043	G	A	PTEN	c.1027-1G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89725043G>A	(Likely) pathogenic	1 lab	6706d406d1
15:85383507 ALPK3 G>A	15	85383507	85383507	G	A	ALPK3	c.997G>A	NM_020778.5	NP_065829.4:p.(Glu333Lys)	NC_000015.9:g.85383507G>A	VUS	1 lab	67077c3d5d
5:89986804 ADGRV1 C>T	5	89986804	89986804	C	T	ADGRV1	c.6897C>T	NM_032119.4	NP_115495.3:p.(Thr2299=)	NC_000005.9:g.89986804C>T	(Likely) benign	1 lab	6709f46754
8:100844899 VPS13B A>G	8	100844899	100844899	A	G	VPS13B	c.9689+19A>G	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844899A>G	(Likely) benign	1 lab	6713f45f6f
16:88496544 ZNF469 C>T	16	88496544	88496544	C	T	ZNF469	c.2666C>T	NM_001367624.2	NP_001354553.1:p.(Ala889Val)	NC_000016.9:g.88496544C>T	(Likely) benign	1 lab	6718205019
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	671d620f3b
1:50885057 DMRTA2 T>G	1	50885057	50885057	T	G	DMRTA2	c.909A>C	NM_032110.3	NP_115486.1:p.(Pro303=)	NC_000001.10:g.50885057T>G	(Likely) benign	1 lab	671fdc4348
20:57485002 GNAS G>A	20	57485002	57485002	G	A	GNAS	c.*701-4G>A	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57485002G>A	(Likely) benign	1 lab	672cf8d1bf
20:62119708 EEF1A2 G>A	20	62119708	62119708	G	A	EEF1A2	c.1335C>T	NM_001958.5	NP_001949.1:p.(Ser445=)	NC_000020.10:g.62119708G>A	(Likely) benign	1 lab	673b150263
10:124812676 ACADSB G>A	10	124812676	124812676	G	A	ACADSB	c.1228G>A	NM_001609.4	NP_001600.1:p.(Gly410Ser)	NC_000010.10:g.124812676G>A	(Likely) pathogenic	1 lab	673d20956b
19:11200235 LDLR G>A	19	11200235	11200235	G	A	LDLR	c.11G>A	NM_000527.5	NP_000518.1:p.(Trp4Ter)	NC_000019.9:g.11200235G>A	(Likely) pathogenic	1 lab	673d816f84
2:21228607 APOB G>T	2	21228607	21228607	G	T	APOB	c.11133C>A	NM_000384.3	NP_000375.3:p.(Thr3711=)	NC_000002.11:g.21228607G>T	(Likely) benign	1 lab	6741aae6a9
18:47101975 LIPG T>C	18	47101975	47101975	T	C	LIPG	c.793+15T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47101975T>C	(Likely) benign	1 lab	6742450c48
9:137622457 COL5A1 C>G	9	137622457	137622457	C	G	COL5A1	c.1164+136C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137622457C>G	(Likely) benign	1 lab	6743c73e87
9:107554274 ABCA1 A>G	9	107554274	107554274	A	G	ABCA1	c.5763T>C	NM_005502.4	NP_005493.2:p.(Tyr1921=)	NC_000009.11:g.107554274A>G	(Likely) benign	1 lab	674653ed96
16:57007451 CETP G>A	16	57007451	57007451	G	A	CETP	c.930+29G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007451G>A	(Likely) benign	1 lab	6772488f33
21:33038808 SOD1 C>T	21	33038808	33038808	C	T	SOD1	c.216C>T	NM_000454.5	NP_000445.1:p.(His72=)	NC_000021.8:g.33038808C>T	(Likely) benign	1 lab	674dc15762
13:32913346 BRCA2 T>A	13	32913346	32913346	T	A	BRCA2	c.4854T>A	NM_000059.4	NP_000050.3:p.(Asp1618Glu)	NC_000013.10:g.32913346T>A	(Likely) benign	1 lab	6753b2aebb
14:23902781 MYH7 C>T	14	23902781	23902781	C	T	MYH7	c.161G>A	NM_000257.4	NP_000248.2:p.(Arg54Gln)	NC_000014.8:g.23902781C>T	VUS	1 lab	675661552d
5:14369541 TRIO GC>G	5	14369541	14369542	GC	G	TRIO	c.3126del	NM_007118.4	NP_009049.2:p.(Ala1044ArgfsTer13)	NC_000005.9:g.14369542del	(Likely) pathogenic	1 lab	6758518839
11:75917331 WNT11 C>A	11	75917331	75917331	C	A	WNT11	c.83+38G>T	NM_004626.3	NP_004617.2:p.?	NC_000011.9:g.75917331C>A	(Likely) benign	1 lab	675e26f83f
19:50906306 POLD1 G>A	19	50906306	50906306	G	A	POLD1	c.971-4G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50906306G>A	(Likely) benign	1 lab	675e8ed908
3:68495590 MISSING Ref too long to show for this DEL>C	3	68495590	71712470	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.68495591_71712470del	(Likely) pathogenic	1 lab	6764630207
18:31318845 ASXL3 GCA>G	18	31318845	31318848	GCA	G	ASXL3	c.1479_1480del	NM_030632.3	NP_085135.1:p.(Pro494SerfsTer2)	NC_000018.9:g.31318847_31318848del	(Likely) pathogenic	1 lab	676f5ceb03
11:47358062 MYBPC3 A>C	11	47358062	47358062	A	C	MYBPC3	c.2603-500T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358062A>C	(Likely) benign	1 lab	67717b82cb
2:169801403 ABCB11 T>C	2	169801403	169801403	T	C	ABCB11	c.2412A>G	NM_003742.4	NP_003733.2:p.(Ala804=)	NC_000002.11:g.169801403T>C	(Likely) benign	1 lab	677a004952
X:154032254 MISSING C>Alt too long to show for this DUP	X	154032254	154194424	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154032256_154194424dup	VUS	1 lab	677cfaee2a
12:21242926 MISSING Ref too long to show for this DEL>A	12	21242926	24791483	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.21242928_24791483del	(Likely) pathogenic	1 lab	677dbf959d
1:228168934 MISSING A>Alt too long to show for this DUP	1	228168934	228710692	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.228168935_228710692dup	VUS	1 lab	678412a9b6
16:929558 LMF1 G>A	16	929558	929558	G	A	LMF1	c.897+12C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929558G>A	(Likely) benign	1 lab	6784c65d84
5:13810371 DNAH5 T>C	5	13810371	13810371	T	C	DNAH5	c.7408-2A>G	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13810371T>C	(Likely) pathogenic	1 lab	678623e3ca
16:88790233 PIEZO1 C>CAAGCTCTGTGGTTGGAGTGGGGCCGACGG	16	88790233	88790262	C	CAAGCTCTGTGGTTGGAGTGGGGCCGACGG	PIEZO1	c.4335+17_4335+45dup	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88790234_88790262dup	(Likely) benign	1 lab	678667f409
7:101993715 SPDYE6 C>T	7	101993715	101993715	C	T	SPDYE6	c.496G>A	NM_001146210.4	NP_001139682.2:p.(Glu166Lys)	NC_000007.13:g.101993715C>T	(Likely) benign	1 lab	678932005b
5:180043461 FLT4 T>C	5	180043461	180043461	T	C	FLT4	c.3125A>G	NM_182925.5	NP_891555.2:p.(Asn1042Ser)	NC_000005.9:g.180043461T>C	(Likely) pathogenic	1 lab	678bd0d3de
2:21226018 APOB G>A	2	21226018	21226018	G	A	APOB	c.12276C>T	NM_000384.3	NP_000375.3:p.(His4092=)	NC_000002.11:g.21226018G>A	(Likely) benign	1 lab	678d4f577b
7:27148343 HOXA3 C>A	7	27148343	27148343	C	A	HOXA3	c.527-4G>T	NM_153631.3	NP_705895.1:p.?	NC_000007.13:g.27148343C>A	(Likely) benign	1 lab	678dbc71e9
16:2133684 TSC2 G>A	16	2133684	2133684	G	A	TSC2	c.3884-12G>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2133684G>A	VUS	1 lab	6793fadafc
6:16143390 MYLIP A>C	6	16143390	16143390	A	C	MYLIP	c.604A>C	NM_013262.4	NP_037394.2:p.(Ile202Leu)	NC_000006.11:g.16143390A>C	(Likely) benign	1 lab	6794a6e225
14:81610363 TSHR TCA>T	14	81610363	81610366	TCA	T	TSHR	c.1963_1964del	NM_000369.5	NP_000360.2:p.(Thr655CysfsTer2)	NC_000014.8:g.81610365_81610366del	(Likely) pathogenic	1 lab	67963fa458
2:44079524 ABCG8 G>T	2	44079524	44079524	G	T	ABCG8	c.593G>T	NM_022437.3	NP_071882.1:p.(Arg198Met)	NC_000002.11:g.44079524G>T	VUS	1 lab	679ff7b9c6
12:118105417 KSR2 C>T	12	118105417	118105417	C	T	KSR2	c.1033G>A	NM_173598.6	NP_775869.4:p.(Val345Ile)	NC_000012.11:g.118105417C>T	(Likely) benign	1 lab	67aa117d97
1:6528320 PLEKHG5 C>T	1	6528320	6528320	C	T	PLEKHG5	c.2576G>A	NM_198681.4	NP_941374.3:p.(Arg859His)	NC_000001.10:g.6528320C>T	(Likely) benign	1 lab	67aa66d2ea
12:57435052 MYO1A A>G	12	57435052	57435052	A	G	MYO1A	c.1185T>C	NM_001256041.2	NP_001242970.1:p.(Phe395=)	NC_000012.11:g.57435052A>G	(Likely) benign	1 lab	67adbb0759
5:127686618 FBN2 A>C	5	127686618	127686618	A	C	FBN2	c.2754T>G	NM_001999.4	NP_001990.2:p.(Ser918=)	NC_000005.9:g.127686618A>C	(Likely) benign	1 lab	67af1a24f4
2:179429198 TTN T>C	2	179429198	179429198	T	C	TTN	c.81661A>G	NM_001267550.2	NP_001254479.2:p.(Ser27221Gly)	NC_000002.11:g.179429198T>C	VUS	1 lab	67b85e50d3
12:1540779 MISSING T>Alt too long to show for this DUP	12	1540779	1730517	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.1540781_1730517dup	(Likely) pathogenic	1 lab	6baed08ca1
1:25883705 LDLRAP1 C>T	1	25883705	25883705	C	T	LDLRAP1	c.406C>T	NM_015627.3	NP_056442.2:p.(Gln136Ter)	NC_000001.10:g.25883705C>T	(Likely) pathogenic	1 lab	67d7c3dee8
1:24294450 SRSF10 CA>C	1	24294450	24294466	CA	C	SRSF10	c.492-5del	NM_001191006.3	NP_001177935.1:p.?	NC_000001.10:g.24294466del	(Likely) benign	1 lab	67d8cf5268
2:21255470 APOB G>A	2	21255470	21255470	G	A	APOB	c.1125-17C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21255470G>A	(Likely) benign	1 lab	67dbe8fb65
14:89598978 MISSING Ref too long to show for this DEL>G	14	89598978	89942068	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.89598979_89942068del	VUS	1 lab	67dcc2a69b
9:111679872 ELP1 G>A	9	111679872	111679872	G	A	ELP1	c.819C>T	NM_003640.5	NP_003631.2:p.(Leu273=)	NC_000009.11:g.111679872G>A	(Likely) benign	1 lab	67dd53118b
8:26248919 BNIP3L C>A	8	26248919	26248919	C	A	BNIP3L	c.261C>A	NM_004331.3	NP_004322.1:p.(Ser87=)	NC_000008.10:g.26248919C>A	(Likely) benign	1 lab	67e39f75d9
8:42296979 SLC20A2 C>T	8	42296979	42296979	C	T	SLC20A2	c.923G>A	NM_001257180.2	NP_001244109.1:p.(Arg308Gln)	NC_000008.10:g.42296979C>T	(Likely) benign	1 lab	67e453f70e
12:124267781 DNAH10 G>A	12	124267781	124267781	G	A	DNAH10	c.786G>A	NM_207437.3	NP_997320.2:p.(Ala262=)	NC_000012.11:g.124267781G>A	(Likely) benign	1 lab	67e4c07f85
3:186550246 MISSING A>Alt too long to show for this DUP	3	186550246	186741742	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.186550247_186741742dup	VUS	1 lab	67e5991f61
15:48730308 FBN1 A>T	15	48730308	48730308	A	T	FBN1	c.6164-194T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48730308A>T	(Likely) benign	1 lab	67eb634e4a
2:148851407 MBD5 Ref too long to show for this DEL>G	2	148851407	149012777	Ref too long to show for this DEL	G	MBD5	c.-925+72155_-680+21813del	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.148851408_149012777del	(Likely) pathogenic	1 lab	67efc7dabe
16:71061767 HYDIN TG>T	16	71061767	71061770	TG	T	HYDIN	c.2779del	NM_001270974.2	NP_001257903.1:p.(His927ThrfsTer7)	NC_000016.9:g.71061770del	VUS	1 lab	67f4be70a8
2:179648838 TTN G>A	2	179648838	179648838	G	A	TTN	c.2734C>T	NM_001267550.2	NP_001254479.2:p.(Arg912Cys)	NC_000002.11:g.179648838G>A	VUS	1 lab	67f6acb974
17:26732421 SLC46A1 G>T	17	26732421	26732421	G	T	SLC46A1	c.294C>A	NM_080669.6	NP_542400.2:p.(Leu98=)	NC_000017.10:g.26732421G>T	(Likely) benign	1 lab	67f961db9d
1:63067988 ANGPTL3 G>C	1	63067988	63067988	G	C	ANGPTL3	c.868G>C	NM_014495.4	NP_055310.1:p.(Asp290His)	NC_000001.10:g.63067988G>C	VUS	1 lab	67fb4afaea
15:85399679 ALPK3 T>C	15	85399679	85399679	T	C	ALPK3	c.1710T>C	NM_020778.5	NP_065829.4:p.(Asp570=)	NC_000015.9:g.85399679T>C	(Likely) benign	1 lab	67fd092c0f
19:11227036 LDLR G>T	19	11227036	11227036	G	T	LDLR	c.1705+148G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227036G>T	(Likely) benign	1 lab	68023edc87
19:17759289 UNC13A G>C	19	17759289	17759289	G	C	UNC13A	c.1767C>G	NM_001080421.3	NP_001073890.2:p.(Val589=)	NC_000019.9:g.17759289G>C	(Likely) benign	1 lab	680364d73e
9:2719047 KCNV2 G>A	9	2719047	2719047	G	A	KCNV2	c.1308G>A	NM_133497.4	NP_598004.1:p.(Val436=)	NC_000009.11:g.2719047G>A	(Likely) benign	1 lab	6806a787e6
1:55505657 PCSK9 G>C	1	55505657	55505657	G	C	PCSK9	c.147G>C	NM_174936.4	NP_777596.2:p.(Glu49Asp)	NC_000001.10:g.55505657G>C	VUS	1 lab	6806c181f3
7:151573724 PRKAG2 A>C	7	151573724	151573724	A	C	PRKAG2	c.-19T>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151573724A>C	(Likely) benign	1 lab	6807ed349e
9:137642389 COL5A1 G>GC	9	137642389	137642395	G	GC	COL5A1	c.1502dup	NM_000093.5	NP_000084.3:p.(Gly502TrpfsTer114)	NC_000009.11:g.137642395dup	(Likely) pathogenic	1 lab	6808de94b0
19:12759982 MAN2B1 T>C	19	12759982	12759982	T	C	MAN2B1	c.2404A>G	NM_000528.4	NP_000519.2:p.(Ser802Gly)	NC_000019.9:g.12759982T>C	VUS	1 lab	680baa3ec9
6:112575241 LAMA4 C>T	6	112575241	112575241	C	T	LAMA4	c.112G>A	NM_001105206.3	NP_001098676.2:p.(Gly38Arg)	NC_000006.11:g.112575241C>T	VUS	1 lab	681019d2cc
8:10467458 RP1L1 C>G	8	10467458	10467458	C	G	RP1L1	c.4150G>C	NM_178857.6	NP_849188.4:p.(Gly1384Arg)	NC_000008.10:g.10467458C>G	(Likely) benign	1 lab	68115bf7da
2:179499957 TTN C>T	2	179499957	179499957	C	T	TTN	c.41959G>A	NM_001267550.2	NP_001254479.2:p.(Glu13987Lys)	NC_000002.11:g.179499957C>T	VUS	1 lab	68135e9ce9
X:70597514 TAF1 C>T	X	70597514	70597514	C	T	TAF1	c.776C>T	NM_001286074.2	NP_001273003.2:p.(Ala259Val)	NC_000023.10:g.70597514C>T	VUS	1 lab	6813e16eea
10:90694984 ACTA2 A>C	10	90694984	90694984	A	C	ACTA2	c.1130T>G	NM_001613.4	NP_001604.1:p.(Phe377Cys)	NC_000010.10:g.90694984A>C	VUS	1 lab	68153fe080
10:70191704 DNA2 G>A	10	70191704	70191704	G	A	DNA2	c.1898C>T	NM_001080449.3	NP_001073918.2:p.(Ala633Val)	NC_000010.10:g.70191704G>A	VUS	1 lab	6821f93cab
10:47087299 NPY4R G>C	10	47087299	47087299	G	C	NPY4R	c.516G>C	NM_005972.6	NP_005963.4:p.(Leu172=)	NC_000010.10:g.47087299G>C	(Likely) benign	1 lab	6828174e30
2:44099167 ABCG8 G>A	2	44099167	44099167	G	A	ABCG8	c.1017G>A	NM_022437.3	NP_071882.1:p.(Arg339=)	NC_000002.11:g.44099167G>A	(Likely) benign	1 lab	682a678698
10:103534633 MISSING C>Alt too long to show for this DUP	10	103534633	103693069	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.103534634_103693069dup	VUS	1 lab	682f7046e9
19:11228142 LDLR C>CT	19	11228142	11228144	C	CT	LDLR	c.1845+470dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11228144dup	(Likely) benign	1 lab	6830e24ec5
14:23896087 MYH7 T>C	14	23896087	23896087	T	C	MYH7	c.1957-14A>G	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23896087T>C	(Likely) benign	1 lab	683efa6e3a
9:107578423 ABCA1 C>G	9	107578423	107578423	C	G	ABCA1	c.3738+1G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578423C>G	(Likely) pathogenic	1 lab	683fd2f5e4
16:88783449 PIEZO1 C>G	16	88783449	88783449	C	G	PIEZO1	c.6642G>C	NM_001142864.4	NP_001136336.2:p.(Leu2214=)	NC_000016.9:g.88783449C>G	(Likely) benign	1 lab	68427b8c88
4:114277706 ANK2 G>A	4	114277706	114277706	G	A	ANK2	c.7932G>A	NM_001148.6	NP_001139.3:p.(Glu2644=)	NC_000004.11:g.114277706G>A	(Likely) benign	1 lab	68452fb995
3:53844020 CACNA1D G>A	3	53844020	53844020	G	A	CACNA1D	c.5947G>A	NM_000720.4	NP_000711.1:p.(Gly1983Ser)	NC_000003.11:g.53844020G>A	VUS	1 lab	68493dc1e6
19:45451442 APOC2 A>G	19	45451442	45451442	A	G	APOC2	c.-13-281A>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451442A>G	(Likely) benign	1 lab	684ca03aeb
2:68691470 MISSING Ref too long to show for this DEL>T	2	68691470	68746778	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.68691471_68746778del	VUS	1 lab	6850159a3b
8:145583576 SLC52A2 C>T	8	145583576	145583576	C	T	SLC52A2	c.424C>T	NM_001363118.2	NP_001350047.1:p.(Arg142Cys)	NC_000008.10:g.145583576C>T	VUS	1 lab	6855b640a2
16:86729612 MISSING Ref too long to show for this DEL>A	16	86729612	86934712	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.86729613_86934712del	VUS	1 lab	6858c98c13
11:58572389 MISSING Ref too long to show for this DEL>A	11	58572389	58633770	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.58572391_58633770del	VUS	1 lab	685909d99d
18:19345810 MIB1 T>G	18	19345810	19345810	T	G	MIB1	c.307T>G	NM_020774.4	NP_065825.1:p.(Cys103Gly)	NC_000018.9:g.19345810T>G	VUS	1 lab	685a8e7e24
17:43675407 MISSING Ref too long to show for this DEL>C	17	43675407	44297143	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.43675408_44297143del	(Likely) pathogenic	1 lab	685d965300
7:140449150 BRAF T>C	7	140449150	140449150	T	C	BRAF	c.1929A>G	NM_004333.6	NP_004324.2:p.(Gly643=)	NC_000007.13:g.140449150T>C	(Likely) benign	1 lab	685e8d8982
17:79507856 FAAP100 T>G	17	79507856	79507856	T	G	FAAP100	c.2635A>C	NM_025161.6	NP_079437.5:p.(Ile879Leu)	NC_000017.10:g.79507856T>G	(Likely) benign	1 lab	686049bf78
19:45411840 APOE T>C	19	45411840	45411840	T	C	APOE	c.365T>C	NM_001302688.2	NP_001289617.1:p.(Leu122Pro)	NC_000019.9:g.45411840T>C	VUS	1 lab	68620b3313
6:79655915 PHIP AAT>A	6	79655915	79655917	AAT	A	PHIP	c.4431_4432del	NM_017934.7	NP_060404.4:p.(Phe1478LeufsTer19)	NC_000006.11:g.79655916_79655917del	(Likely) pathogenic	1 lab	6865cd4178
6:42672300 PRPH2 A>G	6	42672300	42672300	A	G	PRPH2	c.631T>C	NM_000322.5	NP_000313.2:p.(Phe211Leu)	NC_000006.11:g.42672300A>G	(Likely) pathogenic	1 lab	6867d221a4
9:107646861 ABCA1 G>C	9	107646861	107646861	G	C	ABCA1	c.161-12C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646861G>C	VUS	1 lab	686ade0617
1:3348651 PRDM16 A>G	1	3348651	3348651	A	G	PRDM16	c.3643A>G	NM_022114.4	NP_071397.3:p.(Thr1215Ala)	NC_000001.10:g.3348651A>G	VUS	1 lab	686b57eb74
10:69881844 MYPN G>A	10	69881844	69881844	G	A	MYPN	c.649G>A	NM_032578.4	NP_115967.2:p.(Ala217Thr)	NC_000010.10:g.69881844G>A	VUS	1 lab	686fb69bea
1:87663532 MISSING Ref too long to show for this DEL>C	1	87663532	92822973	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.87663534_92822973del	(Likely) pathogenic	1 lab	686ff570e7
5:133956661 SAR1B T>C	5	133956661	133956661	T	C	SAR1B	c.140A>G	NM_001033503.3	NP_001028675.1:p.(Asp47Gly)	NC_000005.9:g.133956661T>C	VUS	1 lab	6871dba823
11:108139302 ATM C>G	11	108139302	108139302	C	G	ATM	c.2804C>G	NM_000051.4	NP_000042.3:p.(Thr935Arg)	NC_000011.9:g.108139302C>G	VUS	1 lab	6873136b42
22:26937139 TPST2 C>T	22	26937139	26937139	C	T	TPST2	c.458G>A	NM_001008566.3	NP_001008566.1:p.(Arg153His)	NC_000022.10:g.26937139C>T	(Likely) benign	1 lab	6875126f1e
6:56438649 DST G>C	6	56438649	56438649	G	C	DST	c.6707C>G	NM_001144769.5	NP_001138241.1:p.(Ser2236Cys)	NC_000006.11:g.56438649G>C	VUS	1 lab	68758954ac
3:184040527 EIF4G1 A>G	3	184040527	184040527	A	G	EIF4G1	c.1795+9A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184040527A>G	(Likely) benign	1 lab	6875c9da8a
11:19209803 CSRP3 G>A	11	19209803	19209803	G	A	CSRP3	c.161C>T	NM_003476.5	NP_003467.1:p.(Ser54Leu)	NC_000011.9:g.19209803G>A	VUS	1 lab	687ab2096f
X:76872191 ATRX T>A	X	76872191	76872191	T	A	ATRX	c.5456A>T	NM_000489.6	NP_000480.3:p.(Asp1819Val)	NC_000023.10:g.76872191T>A	VUS	1 lab	687bfcad63
3:132441082 NPHP3 G>A	3	132441082	132441082	G	A	NPHP3	c.118C>T	NM_153240.5	NP_694972.3:p.(Leu40=)	NC_000003.11:g.132441082G>A	(Likely) benign	1 lab	687ce4061a
11:108199832 ATM C>T	11	108199832	108199832	C	T	ATM	c.7174C>T	NM_000051.4	NP_000042.3:p.(Arg2392Trp)	NC_000011.9:g.108199832C>T	(Likely) benign	1 lab	687d86a5fc
6:100934801 MISSING Ref too long to show for this DEL>A	6	100934801	101517547	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.100934802_101517547del	VUS	1 lab	68825a618b
19:10252692 DNMT1 C>T	19	10252692	10252692	C	T	DNMT1	c.3309+12G>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10252692C>T	(Likely) benign	1 lab	688342ec5f
12:88457866 CEP290 A>G	12	88457866	88457866	A	G	CEP290	c.6162T>C	NM_025114.4	NP_079390.3:p.(His2054=)	NC_000012.11:g.88457866A>G	(Likely) benign	1 lab	6883fbaf4f
15:48725148 FBN1 G>C	15	48725148	48725148	G	C	FBN1	c.6654C>G	NM_000138.5	NP_000129.3:p.(Ala2218=)	NC_000015.9:g.48725148G>C	(Likely) benign	1 lab	68849f57c5
6:26385304 BTN2A2 A>G	6	26385304	26385304	A	G	BTN2A2	c.156A>G	NM_001197237.2	NP_001184166.1:p.(Thr52=)	NC_000006.11:g.26385304A>G	(Likely) benign	1 lab	6886fba7f2
17:8192355 RANGRF G>A	17	8192355	8192355	G	A	RANGRF	c.159G>A	NM_001177802.2	NP_001171273.1:p.(Glu53=)	NC_000017.10:g.8192355G>A	VUS	1 lab	6887c118a2
9:107574946 ABCA1 T>C	9	107574946	107574946	T	C	ABCA1	c.3959A>G	NM_005502.4	NP_005493.2:p.(Lys1320Arg)	NC_000009.11:g.107574946T>C	VUS	1 lab	688819fa43
2:172171315 MISSING Ref too long to show for this DEL>T	2	172171315	172305261	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.172171317_172305261del	VUS	1 lab	688a484481
12:32949038 PKP2 C>T	12	32949038	32949038	C	T	PKP2	c.2489+5G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949038C>T	VUS	1 lab	688c7513c0
16:937690 LMF1 C>G	16	937690	937690	C	G	LMF1	c.330+5317G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.937690C>G	(Likely) benign	1 lab	688eab3376
5:37224334 CPLANE1 T>TA	5	37224334	37224335	T	TA	CPLANE1	c.2581+20dup	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37224335dup	(Likely) benign	1 lab	688eee5f24
3:129251130 RHO C>T	3	129251130	129251130	C	T	RHO	c.567C>T	NM_000539.3	NP_000530.1:p.(Ile189=)	NC_000003.11:g.129251130C>T	(Likely) benign	1 lab	6892ac0fe8
1:26380394 TRIM63 C>T	1	26380394	26380394	C	T	TRIM63	c.1041G>A	NM_032588.4	NP_115977.2:p.(Gly347=)	NC_000001.10:g.26380394C>T	(Likely) benign	1 lab	689a372ee1
2:73746970 ALMS1 A>G	2	73746970	73746970	A	G	ALMS1	c.9611A>G	NM_015120.4	NP_055935.4:p.(Gln3204Arg)	NC_000002.11:g.73746970A>G	VUS	1 lab	689c1f34f1
19:16593330 CALR3 G>A	19	16593330	16593330	G	A	CALR3	c.849C>T	NM_145046.5	NP_659483.2:p.(Thr283=)	NC_000019.9:g.16593330G>A	(Likely) benign	1 lab	689e49190f
15:73009188 BBS4 T>C	15	73009188	73009188	T	C	BBS4	c.402T>C	NM_033028.5	NP_149017.2:p.(Asp134=)	NC_000015.9:g.73009188T>C	(Likely) benign	1 lab	68a1f4df26
1:55523018 PCSK9 G>A	1	55523018	55523018	G	A	PCSK9	c.1011G>A	NM_174936.4	NP_777596.2:p.(Gly337=)	NC_000001.10:g.55523018G>A	(Likely) benign	1 lab	68a9130f44
9:137658265 COL5A1 C>T	9	137658265	137658265	C	T	COL5A1	c.2089-35C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658265C>T	(Likely) benign	1 lab	68aa88480f
7:154379725 DPP6 G>A	7	154379725	154379725	G	A	DPP6	c.993G>A	NM_001290253.2	NP_001277182.1:p.(Ser331=)	NC_000007.13:g.154379725G>A	(Likely) benign	1 lab	68ab897a0d
8:19812144 LPL T>A	8	19812144	19812144	T	A	LPL	c.775+280T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19812144T>A	(Likely) benign	1 lab	68ae429d2d
X:47070261 UBA1 G>A	X	47070261	47070261	G	A	UBA1	c.2220G>A	NM_003334.4	NP_003325.2:p.(Pro740=)	NC_000023.10:g.47070261G>A	(Likely) benign	1 lab	68af6c7862
2:189904005 COL5A2 C>T	2	189904005	189904005	C	T	COL5A2	c.3918G>A	NM_000393.5	NP_000384.2:p.(Lys1306=)	NC_000002.11:g.189904005C>T	(Likely) benign	1 lab	68b385acdf
18:47101753 LIPG G>A	18	47101753	47101753	G	A	LIPG	c.586G>A	NM_006033.4	NP_006024.1:p.(Gly196Arg)	NC_000018.9:g.47101753G>A	VUS	1 lab	68c026655e
2:73676564 ALMS1 A>G	2	73676564	73676564	A	G	ALMS1	c.2913A>G	NM_015120.4	NP_055935.4:p.(Pro971=)	NC_000002.11:g.73676564A>G	(Likely) benign	1 lab	68c2d1d52c
7:150643979 KCNH2 C>T	7	150643979	150643979	C	T	KCNH2	c.3316G>A	NM_000238.4	NP_000229.1:p.(Asp1106Asn)	NC_000007.13:g.150643979C>T	VUS	1 lab	68c34b18b4
2:62069325 FAM161A C>A	2	62069325	62069325	C	A	FAM161A	c.354G>T	NM_001201543.2	NP_001188472.1:p.(Gln118His)	NC_000002.11:g.62069325C>A	VUS	1 lab	68c38b5e74
12:133238204 POLE A>G	12	133238204	133238204	A	G	POLE	c.2773T>C	NM_006231.4	NP_006222.2:p.(Ser925Pro)	NC_000012.11:g.133238204A>G	VUS	1 lab	68c52ef39c
6:111543412 SLC16A10 A>C	6	111543412	111543412	A	C	SLC16A10	c.1522A>C	NM_018593.5	NP_061063.2:p.(Lys508Gln)	NC_000006.11:g.111543412A>C	(Likely) benign	1 lab	68c651c087
2:179643948 TTN T>C	2	179643948	179643948	T	C	TTN	c.3963+8A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179643948T>C	(Likely) benign	1 lab	68c672b9f3
6:169640741 THBS2 C>A	6	169640741	169640741	C	A	THBS2	c.892-54G>T	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169640741C>A	(Likely) benign	1 lab	69dd37552b
7:81695842 CACNA2D1 TAAA>T	7	81695842	81695858	TAAA	T	CACNA2D1	c.659-5_659-3del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81695856_81695858del	(Likely) benign	1 lab	68cc6c1376
2:44182652 LRPPRC Ref too long to show for this DEL>C	2	44182652	44196197	Ref too long to show for this DEL	C	LRPPRC	c.1369+4551_1649+1871del	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44182655_44196197del	VUS	1 lab	68d6229efd
7:151372578 PRKAG2 GAACCT>G	7	151372578	151372583	GAACCT	G	PRKAG2	c.607_611del	NM_016203.4	NP_057287.2:p.(Arg203LeufsTer68)	NC_000007.13:g.151372579_151372583del	(Likely) benign	1 lab	68d7059eac
12:2019052 CACNA2D4 G>C	12	2019052	2019052	G	C	CACNA2D4	c.486+20C>G	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.2019052G>C	(Likely) benign	1 lab	68d90477dd
22:37098465 CACNG2 T>G	22	37098465	37098465	T	G	CACNG2	c.157A>C	NM_006078.5	NP_006069.1:p.(Lys53Gln)	NC_000022.10:g.37098465T>G	VUS	1 lab	68d9948f8c
8:75854805 MISSING C>Alt too long to show for this DUP	8	75854805	75962410	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.75854806_75962410dup	VUS	1 lab	68db1acc20
15:41134164 MISSING C>Alt too long to show for this DUP	15	41134164	41271224	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.41134166_41271224dup	(Likely) pathogenic	1 lab	68df2d9026
2:238268021 COL6A3 C>A	2	238268021	238268021	C	A	COL6A3	c.6293G>T	NM_004369.4	NP_004360.2:p.(Gly2098Val)	NC_000002.11:g.238268021C>A	(Likely) pathogenic	1 lab	68e1374b43
6:73043363 RIMS1 G>A	6	73043363	73043363	G	A	RIMS1	c.4191G>A	NM_014989.6	NP_055804.2:p.(Lys1397=)	NC_000006.11:g.73043363G>A	(Likely) benign	1 lab	68ee4abfa0
9:135204255 SETX T>G	9	135204255	135204255	T	G	SETX	c.2730A>C	NM_015046.7	NP_055861.3:p.(Ser910=)	NC_000009.11:g.135204255T>G	(Likely) benign	1 lab	68eeeae818
14:74205925 MIDEAS CCTG>C	14	74205925	74205949	CCTG	C	MIDEAS	c.784_786del	NM_194278.3	NP_919254.2:p.(Gln262del)	NC_000014.8:g.74205947_74205949del	(Likely) benign	1 lab	68f4ba7973
19:10249118 DNMT1 G>A	19	10249118	10249118	G	A	DNMT1	c.4112C>T	NM_001130823.3	NP_001124295.1:p.(Thr1371Ile)	NC_000019.9:g.10249118G>A	VUS	1 lab	68f6eafcf8
3:61889 MISSING Ref too long to show for this DEL>A	3	61889	5737053	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.61892_5737053del	(Likely) pathogenic	1 lab	68fa3a0f0d
10:85973121 CDHR1 G>A	10	85973121	85973121	G	A	CDHR1	c.2040+17G>A	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85973121G>A	(Likely) benign	1 lab	68fa7c6df9
5:90106548 ADGRV1 C>T	5	90106548	90106548	C	T	ADGRV1	c.15471C>T	NM_032119.4	NP_115495.3:p.(Ser5157=)	NC_000005.9:g.90106548C>T	(Likely) benign	1 lab	68fc04de7a
19:49713990 TRPM4 G>A	19	49713990	49713990	G	A	TRPM4	c.3352G>A	NM_017636.4	NP_060106.2:p.(Glu1118Lys)	NC_000019.9:g.49713990G>A	VUS	1 lab	68fc91b5c8
9:135150706 SETX GTTA>G	9	135150706	135150713	GTTA	G	SETX	c.7034_7036del	NM_001351527.2	NP_001338456.1:p.(Ile2345del)	NC_000009.11:g.135150711_135150713del	VUS	1 lab	68fd078f0b
21:47408996 COL6A1 A>G	21	47408996	47408996	A	G	COL6A1	c.805-2A>G	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47408996A>G	(Likely) pathogenic	1 lab	69079edf38
9:137710240 COL5A1 G>C	9	137710240	137710240	G	C	COL5A1	c.4231-262G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710240G>C	(Likely) benign	1 lab	690bc3a69f
10:92677471 ANKRD1 G>A	10	92677471	92677471	G	A	ANKRD1	c.552+18C>T	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92677471G>A	(Likely) benign	1 lab	6916a09d02
11:17553008 USH1C A>G	11	17553008	17553008	A	G	USH1C	c.186T>C	NM_153676.4	NP_710142.1:p.(Ile62=)	NC_000011.9:g.17553008A>G	(Likely) benign	1 lab	691981ceae
5:140050894 DND1 G>C	5	140050894	140050894	G	C	DND1	c.1046C>G	NM_194249.3	NP_919225.1:p.(Thr349Ser)	NC_000005.9:g.140050894G>C	(Likely) benign	1 lab	691a605eaa
X:73960715 NEXMIF C>G	X	73960715	73960715	C	G	NEXMIF	c.3677G>C	NM_001008537.3	NP_001008537.1:p.(Gly1226Ala)	NC_000023.10:g.73960715C>G	VUS	1 lab	691e5dd4d8
3:24408964 THRB T>Alt too long to show for this DUP	3	24408964	24432822	T	Alt too long to show for this DUP	THRB	c.-260-53959_-260-30103dup	NM_001354712.2	NP_001341641.1:p.?	NC_000003.11:g.24408966_24432822dup	VUS	1 lab	6924171818
18:19444542 MIB1 A>G	18	19444542	19444542	A	G	MIB1	c.2936A>G	NM_020774.4	NP_065825.1:p.(His979Arg)	NC_000018.9:g.19444542A>G	VUS	1 lab	6924ddfc2f
7:75932145 HSPB1 C>T	7	75932145	75932145	C	T	HSPB1	c.116C>T	NM_001540.5	NP_001531.1:p.(Pro39Leu)	NC_000007.13:g.75932145C>T	(Likely) pathogenic	1 lab	69276a7e52
3:38593169 SCN5A G>T	3	38593169	38593169	G	T	SCN5A	c.4814-120C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593169G>T	(Likely) benign	1 lab	69294a7e53
2:21239432 APOB C>T	2	21239432	21239432	C	T	APOB	c.3211G>A	NM_000384.3	NP_000375.3:p.(Val1071Ile)	NC_000002.11:g.21239432C>T	VUS	1 lab	6929f83b28
2:121747897 GLI2 G>T	2	121747897	121747897	G	T	GLI2	c.4407G>T	NM_001371271.1	NP_001358200.1:p.(Met1469Ile)	NC_000002.11:g.121747897G>T	VUS	1 lab	692dbdfebd
2:179600591 TTN T>C	2	179600591	179600591	T	C	TTN	c.14582A>G	NM_001267550.2	NP_001254479.2:p.(Asp4861Gly)	NC_000002.11:g.179600591T>C	VUS	1 lab	69315efd6a
1:218614664 TGFB2 A>G	1	218614664	218614664	A	G	TGFB2	c.1289A>G	NM_001135599.4	NP_001129071.1:p.(Gln430Arg)	NC_000001.10:g.218614664A>G	VUS	1 lab	693c1d409e
17:42932341 EFTUD2 C>T	17	42932341	42932341	C	T	EFTUD2	c.2077G>A	NM_001258353.2	NP_001245282.1:p.(Glu693Lys)	NC_000017.10:g.42932341C>T	(Likely) pathogenic	1 lab	693eba08b3
1:156851440 NTRK1 C>T	1	156851440	156851440	C	T	NTRK1	c.*6C>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156851440C>T	VUS	1 lab	693ed560b4
13:97175968 MISSING Ref too long to show for this DEL>C	13	97175968	106928014	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.97175970_106928014del	(Likely) pathogenic	1 lab	694519b3c7
22:25736326 MISSING T>Alt too long to show for this DUP	22	25736326	25911104	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.25736327_25911104dup	(Likely) benign	1 lab	69472603cc
15:66729123 MAP2K1 A>T	15	66729123	66729123	A	T	MAP2K1	c.331A>T	NM_002755.4	NP_002746.1:p.(Ile111Phe)	NC_000015.9:g.66729123A>T	VUS	1 lab	6947989951
12:49168256 ADCY6 AG>A	12	49168256	49168257	AG	A	ADCY6	c.2211del	NM_015270.5	NP_056085.1:p.(Ser738HisfsTer40)	NC_000012.11:g.49168257del	VUS	1 lab	69565bab71
10:13178766 OPTN G>A	10	13178766	13178766	G	A	OPTN	c.1634G>A	NM_001008211.1	NP_001008212.1:p.(Arg545Gln)	NC_000010.10:g.13178766G>A	(Likely) benign	1 lab	695fdedeae
8:134030184 TG C>T	8	134030184	134030184	C	T	TG	c.6724C>T	NM_003235.5	NP_003226.4:p.(Arg2242Cys)	NC_000008.10:g.134030184C>T	(Likely) pathogenic	1 lab	6960e492fa
6:32025870 TNXB C>T	6	32025870	32025870	C	T	TNXB	c.7790G>A	NM_019105.8	NP_061978.6:p.(Arg2597Gln)	NC_000006.11:g.32025870C>T	(Likely) benign	1 lab	69620ec72d
2:212578360 ERBB4 T>C	2	212578360	212578360	T	C	ERBB4	c.897A>G	NM_005235.3	NP_005226.1:p.(Val299=)	NC_000002.11:g.212578360T>C	(Likely) benign	1 lab	69633fcaed
16:89256702 CDH15 A>G	16	89256702	89256702	A	G	CDH15	c.1030A>G	NM_004933.3	NP_004924.1:p.(Asn344Asp)	NC_000016.9:g.89256702A>G	VUS	1 lab	69637847c8
11:31099442 MISSING Ref too long to show for this DEL>C	11	31099442	31788762	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.31099443_31788762del	(Likely) pathogenic	1 lab	69682de3d7
20:21143484 KIZ C>G	20	21143484	21143484	C	G	KIZ	c.1043-7C>G	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21143484C>G	VUS	1 lab	69690711fc
13:114436054 GRK1 G>A	13	114436054	114436054	G	A	GRK1	c.1392G>A	NM_002929.3	NP_002920.1:p.(Glu464=)	NC_000013.10:g.114436054G>A	(Likely) benign	1 lab	6975f80b3d
X:153599551 FLNA G>A	X	153599551	153599551	G	A	FLNA	c.63C>T	NM_001110556.2	NP_001104026.1:p.(Val21=)	NC_000023.10:g.153599551G>A	(Likely) benign	1 lab	697610c2e1
8:22064881 BMP1 C>T	8	22064881	22064881	C	T	BMP1	c.2427C>T	NM_006129.5	NP_006120.1:p.(Asp809=)	NC_000008.10:g.22064881C>T	(Likely) benign	1 lab	697746aa81
14:89307859 TTC8 G>A	14	89307859	89307859	G	A	TTC8	c.-13G>A	NM_001288782.1	NP_001275711.1:p.?	NC_000014.8:g.89307859G>A	VUS	1 lab	69782c6308
3:39385997 MISSING C>Alt too long to show for this DUP	3	39385997	39472058	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.39385998_39472058dup	VUS	1 lab	6978f8684d
12:2760948 CACNA1C A>G	12	2760948	2760948	A	G	CACNA1C	c.4074+14A>G	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2760948A>G	(Likely) benign	1 lab	697fac5c61
1:201328336 TNNT2 C>T	1	201328336	201328336	C	T	TNNT2	c.*2G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201328336C>T	(Likely) benign	1 lab	69803c5772
8:27321191 CHRNA2 A>G	8	27321191	27321191	A	G	CHRNA2	c.769T>C	NM_000742.4	NP_000733.2:p.(Tyr257His)	NC_000008.10:g.27321191A>G	VUS	1 lab	698268fff3
2:196728903 DNAH7 A>G	2	196728903	196728903	A	G	DNAH7	c.7476T>C	NM_018897.3	NP_061720.2:p.(Leu2492=)	NC_000002.11:g.196728903A>G	(Likely) benign	1 lab	69dea483c9
22:20714022 MISSING Ref too long to show for this DEL>T	22	20714022	21522853	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.20714023_21522853del	(Likely) pathogenic	1 lab	69839ecbef
2:44104957 ABCG8 A>C	2	44104957	44104957	A	C	ABCG8	c.1927A>C	NM_022437.3	NP_071882.1:p.(Ile643Leu)	NC_000002.11:g.44104957A>C	VUS	1 lab	6988a4beff
4:128807368 PLK4 CT>C	4	128807368	128807369	CT	C	PLK4	c.844del	NM_014264.5	NP_055079.3:p.(Ser282GlnfsTer21)	NC_000004.11:g.128807369del	(Likely) pathogenic	1 lab	698ec1d136
9:107547868 ABCA1 G>A	9	107547868	107547868	G	A	ABCA1	c.6454C>T	NM_005502.4	NP_005493.2:p.(Leu2152=)	NC_000009.11:g.107547868G>A	(Likely) benign	1 lab	69946824c6
19:54721004 LILRB3 A>AGAG	19	54721004	54721006	A	AGAG	LILRB3	c.1904_1905insCTC	NM_001320960.2	NP_001307889.1:p.(Pro635_Pro636insSer)	NC_000019.9:g.54721005_54721006insAGG	(Likely) benign	1 lab	699beff820
5:33964123 SLC45A2 T>C	5	33964123	33964123	T	C	SLC45A2	c.563-2A>G	NM_001012509.4	NP_001012527.2:p.?	NC_000005.9:g.33964123T>C	(Likely) pathogenic	1 lab	699c0d2880
16:67976622 LCAT G>T	16	67976622	67976622	G	T	LCAT	c.475C>A	NM_000229.2	NP_000220.1:p.(Arg159=)	NC_000016.9:g.67976622G>T	(Likely) benign	1 lab	699cb70956
8:144992103 PLEC T>C	8	144992103	144992103	T	C	PLEC	c.12297A>G	NM_201380.4	NP_958782.1:p.(Thr4099=)	NC_000008.10:g.144992103T>C	(Likely) benign	1 lab	699d2a5e38
1:55505610 PCSK9 G>A	1	55505610	55505610	G	A	PCSK9	c.100G>A	NM_174936.4	NP_777596.2:p.(Glu34Lys)	NC_000001.10:g.55505610G>A	VUS	1 lab	69a8d080e2
12:125294713 SCARB1 T>C	12	125294713	125294713	T	C	SCARB1	c.842+7A>G	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125294713T>C	(Likely) benign	1 lab	69ab11e800
2:32379490 SPAST A>T	2	32379490	32379490	A	T	SPAST	c.1776A>T	NM_014946.4	NP_055761.2:p.(Ile592=)	NC_000002.11:g.32379490A>T	(Likely) benign	1 lab	69acdd3bca
13:32914339 BRCA2 T>TGTTA	13	32914339	32914346	T	TGTTA	BRCA2	c.5851_5854dup	NM_000059.4	NP_000050.3:p.(Leu1952Ter)	NC_000013.10:g.32914343_32914346dup	(Likely) pathogenic	1 lab	69ae9366b4
4:101953424 PPP3CA C>A	4	101953424	101953424	C	A	PPP3CA	c.1339G>T	NM_000944.5	NP_000935.1:p.(Ala447Ser)	NC_000004.11:g.101953424C>A	VUS	1 lab	69b008d1d7
3:52420219 DNAH1 CAG>C	3	52420219	52420223	CAG	C	DNAH1	c.8672_8673del	NM_015512.5	NP_056327.4:p.(Glu2891GlyfsTer6)	NC_000003.11:g.52420222_52420223del	VUS	1 lab	69dfd37ca0
7:144320272 TPK1 Ref too long to show for this DEL>T	7	144320272	144412030	Ref too long to show for this DEL	T	TPK1	c.116-31958_340del	NM_022445.4	NP_071890.2:p.?	NC_000007.13:g.144320274_144412030del	VUS	1 lab	69b32e79b4
19:56462969 MISSING Ref too long to show for this DEL>A	19	56462969	56521594	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.56462970_56521594del	VUS	1 lab	69b73d5c2e
X:100652985 GLA C>T	X	100652985	100652985	C	T	GLA	c.1102G>A	NM_000169.3	NP_000160.1:p.(Ala368Thr)	NC_000023.10:g.100652985C>T	(Likely) benign	1 lab	69c1c064dd
3:53820964 CACNA1D C>T	3	53820964	53820964	C	T	CACNA1D	c.4968C>T	NM_000720.4	NP_000711.1:p.(Thr1656=)	NC_000003.11:g.53820964C>T	(Likely) benign	1 lab	69c41b863a
9:137717706 COL5A1 G>GC	9	137717706	137717708	G	GC	COL5A1	c.5025dup	NM_000093.5	NP_000084.3:p.(Gly1676ArgfsTer9)	NC_000009.11:g.137717708dup	(Likely) pathogenic	1 lab	69c5ed39e5
12:21327652 SLCO1B1 T>TA	12	21327652	21327666	T	TA	SLCO1B1	c.359+23dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327666dup	(Likely) benign	1 lab	69c5fcd876
2:179640830 TTN T>C	2	179640830	179640830	T	C	TTN	c.5761A>G	NM_001267550.2	NP_001254479.2:p.(Ile1921Val)	NC_000002.11:g.179640830T>C	VUS	1 lab	69d159fbd9
17:6374593 PITPNM3 C>T	17	6374593	6374593	C	T	PITPNM3	c.1512G>A	NM_031220.4	NP_112497.2:p.(Ser504=)	NC_000017.10:g.6374593C>T	(Likely) benign	1 lab	69d3c1da77
3:195513193 MUC4 G>A	3	195513193	195513193	G	A	MUC4	c.5258C>T	NM_018406.7	NP_060876.5:p.(Ala1753Val)	NC_000003.11:g.195513193G>A	(Likely) benign	1 lab	69d4ae6973
18:34954712 MISSING A>Alt too long to show for this DUP	18	34954712	35164078	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.34954713_35164078dup	VUS	1 lab	69d4b1606a
15:72037860 THSD4 C>T	15	72037860	72037860	C	T	THSD4	c.956+286C>T	NM_001286429.2	NP_001273358.1:p.?	NC_000015.9:g.72037860C>T	(Likely) benign	1 lab	69d70aacc0
2:44102350 ABCG8 G>T	2	44102350	44102350	G	T	ABCG8	c.1554G>T	NM_022437.3	NP_071882.1:p.(Leu518=)	NC_000002.11:g.44102350G>T	(Likely) benign	1 lab	69d7689bff
12:122248027 SETD1B A>T	12	122248027	122248027	A	T	SETD1B	c.1176A>T	NM_001353345.2	NP_001340274.1:p.(Gly392=)	NC_000012.11:g.122248027A>T	(Likely) benign	1 lab	69e48321b5
3:38592032 SCN5A C>T	3	38592032	38592032	C	T	SCN5A	c.5831G>A	NM_198056.3	NP_932173.1:p.(Arg1944Gln)	NC_000003.11:g.38592032C>T	VUS	1 lab	69e82f029a
2:219677013 CYP27A1 C>T	2	219677013	219677013	C	T	CYP27A1	c.515C>T	NM_000784.4	NP_000775.1:p.(Ala172Val)	NC_000002.11:g.219677013C>T	VUS	1 lab	69e9be0c31
12:125302115 SCARB1 G>A	12	125302115	125302115	G	A	SCARB1	c.265C>T	NM_005505.5	NP_005496.4:p.(Arg89Cys)	NC_000012.11:g.125302115G>A	(Likely) pathogenic	1 lab	69ec3f4c99
19:49671228 TRPM4 C>T	19	49671228	49671228	C	T	TRPM4	c.322C>T	NM_017636.4	NP_060106.2:p.(Arg108Cys)	NC_000019.9:g.49671228C>T	(Likely) benign	1 lab	69efe9fae4
19:33167445 RGS9BP CAT>C	19	33167445	33167447	CAT	C	RGS9BP	c.277_278del	NM_207391.3	NP_997274.2:p.(Met93AlafsTer206)	NC_000019.9:g.33167446_33167447del	(Likely) pathogenic	1 lab	69f030af6c
1:27664324 MISSING A>Alt too long to show for this DUP	1	27664324	27791960	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.27664328_27791960dup	VUS	1 lab	69f3b92961
2:21246465 APOB A>T	2	21246465	21246465	A	T	APOB	c.2536T>A	NM_000384.3	NP_000375.3:p.(Leu846Met)	NC_000002.11:g.21246465A>T	VUS	1 lab	69fe470e3f
Y:9371799 MISSING C>Alt too long to show for this DUP	Y	9371799	9375662	C	Alt too long to show for this DUP	MISSING				NC_000024.9:g.9371802_9375662dup	(Likely) pathogenic	1 lab	6a054d26bb
3:38798496 SCN10A T>G	3	38798496	38798496	T	G	SCN10A	c.1092+13A>C	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38798496T>G	(Likely) benign	1 lab	6a0687139c
15:85360621 ALPK3 G>C	15	85360621	85360621	G	C	ALPK3	c.-63G>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85360621G>C	VUS	1 lab	6a0e24bd15
10:32329415 KIF5B A>AT	10	32329415	32329421	A	AT	KIF5B	c.215-31dup	NM_004521.3	NP_004512.1:p.?	NC_000010.10:g.32329421dup	(Likely) benign	1 lab	6a0ec418f1
16:919874 LMF1 G>A	16	919874	919874	G	A	LMF1	c.1017+9C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.919874G>A	(Likely) benign	1 lab	6a0ee573eb
X:9707710 GPR143 C>CCG	X	9707710	9707712	C	CCG	GPR143	c.933_934dup	NM_000273.3	NP_000264.2:p.(Gly312AlafsTer22)	NC_000023.10:g.9707711_9707712dup	(Likely) pathogenic	1 lab	6a155eda0d
2:44101649 ABCG8 G>GCC	2	44101649	44101655	G	GCC	ABCG8	c.1488+32_1488+33dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101654_44101655dup	(Likely) benign	1 lab	6a174fa091
17:46130642 MISSING Ref too long to show for this DEL>G	17	46130642	46193154	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.46130643_46193154del	VUS	1 lab	6a1cc56e6f
2:179438866 TTN-AS1 C>T	2	179438866	179438866	C	T	TTN-AS1	n.2044-8433C>T	NR_038272.1		NC_000002.11:g.179438866C>T	(Likely) benign	1 lab	6a25fa425d
6:110088097 FIG4 AG>A	6	110088097	110088099	AG	A	FIG4	c.1750+1del	NM_014845.6	NP_055660.1:p.?	NC_000006.11:g.110088099del	VUS	1 lab	6a2ba678ed
18:47093933 LIPG C>T	18	47093933	47093933	C	T	LIPG	c.401C>T	NM_006033.4	NP_006024.1:p.(Ala134Val)	NC_000018.9:g.47093933C>T	VUS	1 lab	6a2dc30b5e
X:70443787 GJB1 G>T	X	70443787	70443787	G	T	GJB1	c.230G>T	NM_000166.6	NP_000157.1:p.(Trp77Leu)	NC_000023.10:g.70443787G>T	VUS	1 lab	6a357e2046
8:43027489 HGSNAT A>C	8	43027489	43027489	A	C	HGSNAT	c.780A>C	NM_152419.3	NP_689632.2:p.(Gly260=)	NC_000008.10:g.43027489A>C	(Likely) benign	1 lab	6a368a6f12
17:48267487 COL1A1 G>T	17	48267487	48267487	G	T	COL1A1	c.2452-18C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267487G>T	(Likely) benign	1 lab	6a36c782e0
2:179440710 TTN G>A	2	179440710	179440710	G	A	TTN	c.70149C>T	NM_001267550.2	NP_001254479.2:p.(Ile23383=)	NC_000002.11:g.179440710G>A	(Likely) benign	1 lab	6a37484ff3
9:116044905 PRPF4 C>CTT	9	116044905	116044920	C	CTT	PRPF4	c.396-7_396-6dup	NM_004697.5	NP_004688.2:p.?	NC_000009.11:g.116044919_116044920dup	(Likely) benign	1 lab	6a3b2ea78b
19:13246561 NACC1 C>T	19	13246561	13246561	C	T	NACC1	c.540C>T	NM_052876.4	NP_443108.1:p.(Pro180=)	NC_000019.9:g.13246561C>T	(Likely) benign	1 lab	6a3eb9b870
7:116409897 MET A>G	7	116409897	116409897	A	G	MET	c.2782A>G	NM_001324401.3	NP_001311330.1:p.(Met928Val)	NC_000007.13:g.116409897A>G	VUS	1 lab	6a40f1c9dd
8:73596726 KCNB2 G>Alt too long to show for this DUP	8	73596726	73635834	G	Alt too long to show for this DUP	KCNB2	c.579+116179_579+155286dup	NM_004770.3	NP_004761.2:p.?	NC_000008.10:g.73596727_73635834dup	VUS	1 lab	6a41098c16
X:44938591 KDM6A T>G	X	44938591	44938591	T	G	KDM6A	c.3295T>G	NM_001291415.2	NP_001278344.1:p.(Leu1099Val)	NC_000023.10:g.44938591T>G	VUS	1 lab	6a4248f8f7
11:47358055 MYBPC3 A>C	11	47358055	47358055	A	C	MYBPC3	c.2603-493T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358055A>C	(Likely) benign	1 lab	6a44aa3d73
1:27087500 ARID1A A>G	1	27087500	27087500	A	G	ARID1A	c.2074A>G	NM_006015.6	NP_006006.3:p.(Ile692Val)	NC_000001.10:g.27087500A>G	(Likely) benign	1 lab	6a44e9860b
1:150531421 ADAMTSL4 G>A	1	150531421	150531421	G	A	ADAMTSL4	c.2560-17G>A	NM_019032.6	NP_061905.2:p.?	NC_000001.10:g.150531421G>A	(Likely) benign	1 lab	6a4a9f8968
9:3932479 GLIS3 G>C	9	3932479	3932479	G	C	GLIS3	c.1873-9C>G	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.3932479G>C	VUS	1 lab	6a4f9ea113
14:102442029 DYNC1H1 ATATT>A	14	102442029	102442037	ATATT	A	DYNC1H1	c.257-15_257-12del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102442034_102442037del	(Likely) benign	1 lab	6a4fc781e3
3:38626985 SCN5A A>G	3	38626985	38626985	A	G	SCN5A	c.2787+197T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38626985A>G	(Likely) benign	1 lab	6a576cc688
17:45994355 SP2 C>T	17	45994355	45994355	C	T	SP2	c.918C>T	NM_003110.6	NP_003101.3:p.(Pro306=)	NC_000017.10:g.45994355C>T	(Likely) benign	1 lab	6a5928ebd4
3:6479845 MISSING C>Alt too long to show for this DUP	3	6479845	6886242	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.6479848_6886242dup	VUS	1 lab	6a5d1d9b59
17:75484156 SEPTIN9 C>T	17	75484156	75484156	C	T	SEPTIN9	c.989-166C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484156C>T	(Likely) benign	1 lab	6a620d1d7a
10:90983057 LIPA G>GAAGTT	10	90983057	90983058	G	GAAGTT	LIPA	c.822+383_822+384insAACTT	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90983057_90983058insAAGTT	(Likely) benign	1 lab	6a62510abc
1:63069920 ANGPTL3 A>C	1	63069920	63069920	A	C	ANGPTL3	c.1198+14A>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63069920A>C	(Likely) benign	1 lab	6a650314df
10:47086916 NPY4R G>A	10	47086916	47086916	G	A	NPY4R	c.133G>A	NM_005972.6	NP_005963.4:p.(Val45Ile)	NC_000010.10:g.47086916G>A	(Likely) benign	1 lab	6a677ab307
7:751025 PRKAR1B T>C	7	751025	751025	T	C	PRKAR1B	c.118A>G	NM_001164761.2	NP_001158233.1:p.(Ile40Val)	NC_000007.13:g.751025T>C	(Likely) benign	1 lab	6a691247e6
6:123581789 TRDN G>GAA	6	123581789	123581804	G	GAA	TRDN	c.1805-8_1805-7dup	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581803_123581804dup	(Likely) benign	1 lab	6a6cf3fcbd
12:99898206 MISSING A>Alt too long to show for this DUP	12	99898206	100492091	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.99898207_100492091dup	(Likely) pathogenic	1 lab	6a704a8b24
3:11064152 SLC6A1 AAG>A	3	11064152	11064154	AAG	A	SLC6A1	c.713_714del	NM_003042.4	NP_003033.3:p.(Lys238SerfsTer43)	NC_000003.11:g.11064153_11064154del	(Likely) pathogenic	1 lab	6a73b8aebf
9:130242240 LRSAM1 G>T	9	130242240	130242240	G	T	LRSAM1	c.1026G>T	NM_138361.5	NP_612370.3:p.(Leu342=)	NC_000009.11:g.130242240G>T	(Likely) benign	1 lab	6a75d2758c
13:52511772 ATP7B T>TTG	13	52511772	52511776	T	TTG	ATP7B	c.3741_3742dup	NM_000053.4	NP_000044.2:p.(Lys1248ThrfsTer83)	NC_000013.10:g.52511775_52511776dup	(Likely) pathogenic	1 lab	6a801a6c1c
6:7585472 DSP C>T	6	7585472	7585472	C	T	DSP	c.7977C>T	NM_004415.4	NP_004406.2:p.(Gly2659=)	NC_000006.11:g.7585472C>T	(Likely) benign	1 lab	6a80a5c05c
16:16248831 ABCC6 G>A	16	16248831	16248831	G	A	ABCC6	c.3598C>T	NM_001351800.1	NP_001338729.1:p.(Arg1200Trp)	NC_000016.9:g.16248831G>A	(Likely) pathogenic	1 lab	6a80ba0b7f
1:161771957 ATF6 C>T	1	161771957	161771957	C	T	ATF6	c.804C>T	NM_007348.4	NP_031374.2:p.(His268=)	NC_000001.10:g.161771957C>T	(Likely) benign	1 lab	6a81ef15a5
20:62616241 PRPF6 C>T	20	62616241	62616241	C	T	PRPF6	c.241-19C>T	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62616241C>T	(Likely) benign	1 lab	6a826c16f7
3:37067355 MLH1 C>T	3	37067355	37067355	C	T	MLH1	c.1266C>T	NM_000249.4	NP_000240.1:p.(Gly422=)	NC_000003.11:g.37067355C>T	(Likely) benign	1 lab	6a827fdab4
6:90166418 ANKRD6 Ref too long to show for this DEL>A	6	90166418	90290805	Ref too long to show for this DEL	A	ANKRD6	c.-144+23326_120+13990del	NM_001242809.2	NP_001229738.1:p.?	NC_000006.11:g.90166420_90290805del	VUS	1 lab	6a850eca72
20:1592349 SIRPB1 G>A	20	1592349	1592349	G	A	SIRPB1	c.87C>T	NM_001135844.4	NP_001129316.1:p.(Gly29=)	NC_000020.10:g.1592349G>A	(Likely) benign	1 lab	6a8acd0cf2
6:112486463 LAMA4 C>A	6	112486463	112486463	C	A	LAMA4	c.1567G>T	NM_001105206.3	NP_001098676.2:p.(Val523Leu)	NC_000006.11:g.112486463C>A	VUS	1 lab	6a90849383
1:3160692 PRDM16 C>T	1	3160692	3160692	C	T	PRDM16	c.429C>T	NM_022114.4	NP_071397.3:p.(Cys143=)	NC_000001.10:g.3160692C>T	(Likely) benign	1 lab	6a9146fd70
3:53835116 CACNA1D A>T	3	53835116	53835116	A	T	CACNA1D	c.5132A>T	NM_000720.4	NP_000711.1:p.(Asn1711Ile)	NC_000003.11:g.53835116A>T	VUS	1 lab	6a9177a4d1
8:82713832 SNX16 CAAAAA>C	8	82713832	82713848	CAAAAA	C	SNX16	c.939-9_939-5del	NM_022133.4	NP_071416.2:p.?	NC_000008.10:g.82713844_82713848del	(Likely) benign	1 lab	6a92a8c38a
2:44100985 ABCG8 C>A	2	44100985	44100985	C	A	ABCG8	c.1271C>A	NM_022437.3	NP_071882.1:p.(Ala424Asp)	NC_000002.11:g.44100985C>A	(Likely) pathogenic	1 lab	6a9591758b
12:40904796 MUC19 G>A	12	40904796	40904796	G	A	MUC19	c.20218G>A	NM_173600.2	NP_775871.2:p.(Val6740Ile)	NC_000012.11:g.40904796G>A	(Likely) benign	1 lab	6a965d5593
4:15559147 CC2D2A GA>G	4	15559147	15559148	GA	G	CC2D2A	c.2829+18del	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15559148del	(Likely) benign	1 lab	6a9661c14b
6:111685185 REV3L T>TA	6	111685185	111685194	T	TA	REV3L	c.6520-5dup	NM_001286431.2	NP_001273360.1:p.?	NC_000006.11:g.111685194dup	(Likely) benign	1 lab	6a99eb347a
11:47371761 MYBPC3 G>A	11	47371761	47371761	G	A	MYBPC3	c.407-98C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371761G>A	(Likely) benign	1 lab	6aa0b0df19
15:52638550 MYO5A C>T	15	52638550	52638550	C	T	MYO5A	c.3959+8G>A	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52638550C>T	(Likely) benign	1 lab	6aa169be43
8:1905362 ARHGEF10 G>A	8	1905362	1905362	G	A	ARHGEF10	c.3968G>A	NM_014629.4	NP_055444.2:p.(Arg1323Gln)	NC_000008.10:g.1905362G>A	VUS	1 lab	6aac714383
13:100622667 ZIC5 TGGCGGCGGCGGCGGCGGCGGC>T	13	100622667	100622703	TGGCGGCGGCGGCGGCGGCGGC	T	ZIC5	c.1170_1190del	NM_033132.5	NP_149123.3:p.(Pro394_Pro400del)	NC_000013.10:g.100622683_100622703del	(Likely) benign	1 lab	6aae00be9e
16:28880536 SH2B1 C>G	16	28880536	28880536	C	G	SH2B1	c.1141C>G	NM_001145795.2	NP_001139267.1:p.(Pro381Ala)	NC_000016.9:g.28880536C>G	VUS	1 lab	6ab04d4b12
2:179554522 TTN C>T	2	179554522	179554522	C	T	TTN	c.31846+18G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179554522C>T	(Likely) benign	1 lab	6ab409854e
11:117090439 PCSK7 G>A	11	117090439	117090439	G	A	PCSK7	c.1191C>T	NM_004716.4	NP_004707.2:p.(Gly397=)	NC_000011.9:g.117090439G>A	(Likely) benign	1 lab	6abb4d4d1b
8:19796538 LPL A>G	8	19796538	19796538	A	G	LPL				NC_000008.10:g.19796538A>G	(Likely) benign	1 lab	6ac0702727
12:50503225 GPD1 G>C	12	50503225	50503225	G	C	GPD1	c.973G>C	NM_005276.4	NP_005267.2:p.(Val325Leu)	NC_000012.11:g.50503225G>C	VUS	1 lab	6ac0e18dff
9:113169116 SVEP1 T>C	9	113169116	113169116	T	C	SVEP1	c.8764A>G	NM_153366.4	NP_699197.3:p.(Ile2922Val)	NC_000009.11:g.113169116T>C	(Likely) benign	1 lab	6ac29aa68e
11:116661353 APOA5 GGCTCTCGGCGTATGGGTGGAAGA>G	11	116661353	116661381	GGCTCTCGGCGTATGGGTGGAAGA	G	APOA5	c.569_591del	NM_052968.5	NP_443200.2:p.(Leu190ProfsTer70)	NC_000011.9:g.116661359_116661381del	(Likely) pathogenic	1 lab	6acace82e2
3:195452873 MUC20 G>A	3	195452873	195452873	G	A	MUC20	c.1399G>A	NM_001282506.2	NP_001269435.1:p.(Ala467Thr)	NC_000003.11:g.195452873G>A	(Likely) benign	1 lab	6ad0490af4
1:55505447 PCSK9 C>T	1	55505447	55505447	C	T	PCSK9	c.-64C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505447C>T	(Likely) benign	1 lab	6ad1b4458c
7:94039067 COL1A2 C>T	7	94039067	94039067	C	T	COL1A2	c.969C>T	NM_000089.4	NP_000080.2:p.(Leu323=)	NC_000007.13:g.94039067C>T	(Likely) benign	1 lab	6ad3285f62
12:56435958 RPS26 G>C	12	56435958	56435958	G	C	RPS26	c.3+5G>C	NM_001029.5	NP_001020.2:p.?	NC_000012.11:g.56435958G>C	(Likely) pathogenic	1 lab	6ad40bf74c
3:154859854 MME G>T	3	154859854	154859854	G	T	MME	c.1032G>T	NM_007289.4	NP_009220.2:p.(Val344=)	NC_000003.11:g.154859854G>T	(Likely) benign	1 lab	6ad51f3a49
16:2636802 PDPK1 Ref too long to show for this DEL>C	16	2636802	2652917	Ref too long to show for this DEL	C	PDPK1	c.1252_*5149del	NM_002613.5	NP_002604.1:p.(Asp418LeufsTer16)	NC_000016.9:g.2636803_2652917del	VUS	1 lab	6ad7d03650
19:11213759 LDLR G>A	19	11213759	11213759	G	A	LDLR	c.313+297G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213759G>A	(Likely) benign	1 lab	6adaa79e9b
9:17011 WASHC1 T>C	9	17011	17011	T	C	WASHC1	c.837A>G	NM_182905.6	NP_878908.4:p.(Pro279=)	NC_000009.11:g.17011T>C	(Likely) benign	1 lab	6adb0580d6
11:47374338 MYBPC3 C>G	11	47374338	47374338	C	G	MYBPC3				NC_000011.9:g.47374338C>G	(Likely) benign	1 lab	6adc0efcc9
7:100647976 MUC12 C>G	7	100647976	100647976	C	G	MUC12	c.14132C>G	NM_001164462.1	NP_001157934.1:p.(Ser4711Cys)	NC_000007.13:g.100647976C>G	(Likely) benign	1 lab	6adc9b6fa1
16:67974236 LCAT T>C	16	67974236	67974236	T	C	LCAT	c.894A>G	NM_000229.2	NP_000220.1:p.(Thr298=)	NC_000016.9:g.67974236T>C	(Likely) benign	1 lab	6addc6725e
1:55527249 PCSK9 C>T	1	55527249	55527249	C	T	PCSK9	c.1863+20C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527249C>T	(Likely) benign	1 lab	6adfaa5ff3
4:114276652 ANK2 G>A	4	114276652	114276652	G	A	ANK2	c.6878G>A	NM_001148.6	NP_001139.3:p.(Gly2293Asp)	NC_000004.11:g.114276652G>A	VUS	1 lab	6ae196649c
1:161276132 MPZ G>A	1	161276132	161276132	G	A	MPZ	c.571C>T	NM_000530.8	NP_000521.2:p.(Gln191Ter)	NC_000001.10:g.161276132G>A	(Likely) pathogenic	1 lab	6ae3794dc0
2:189861874 COL3A1 G>A	2	189861874	189861874	G	A	COL3A1	c.1762-17G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861874G>A	(Likely) benign	1 lab	6ae46a9d47
7:151832035 KMT2C T>Alt too long to show for this DUP	7	151832035	151853171	T	Alt too long to show for this DUP	KMT2C	c.11813-27_*1881dup	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151832038_151853171dup	VUS	1 lab	6ae6db7c5e
17:63533622 AXIN2 G>A	17	63533622	63533622	G	A	AXIN2	c.1532C>T	NM_004655.4	NP_004646.3:p.(Thr511Met)	NC_000017.10:g.63533622G>A	(Likely) benign	1 lab	6ae79ccc2f
1:156099671 LMNA G>A	1	156099671	156099671	G	A	LMNA	c.357-737G>A	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156099671G>A	(Likely) benign	1 lab	6ae87b2881
6:32552056 HLA-DRB1 A>G	6	32552056	32552056	A	G	HLA-DRB1	c.200T>C	NM_002124.4	NP_002115.2:p.(Val67Ala)	NC_000006.11:g.32552056A>G	(Likely) benign	1 lab	6aece4a1c2
16:67973999 LCAT G>A	16	67973999	67973999	G	A	LCAT	c.1131C>T	NM_000229.2	NP_000220.1:p.(Thr377=)	NC_000016.9:g.67973999G>A	(Likely) benign	1 lab	6aee050ea8
5:147813013 FBXO38 G>A	5	147813013	147813013	G	A	FBXO38	c.2455G>A	NM_030793.5	NP_110420.3:p.(Ala819Thr)	NC_000005.9:g.147813013G>A	(Likely) benign	1 lab	6af513459a
8:19805277 LPL G>T	8	19805277	19805277	G	T	LPL	c.89-414G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19805277G>T	(Likely) benign	1 lab	6af5bfcb83
7:100850982 PLOD3 G>A	7	100850982	100850982	G	A	PLOD3	c.1812C>T	NM_001084.5	NP_001075.1:p.(Tyr604=)	NC_000007.13:g.100850982G>A	(Likely) benign	1 lab	6af7ed908f
9:135903526 MISSING C>Alt too long to show for this DUP	9	135903526	135956704	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.135903527_135956704dup	VUS	1 lab	6b048d230d
6:56433345 DST T>G	6	56433345	56433345	T	G	DST	c.7570A>C	NM_001144769.5	NP_001138241.1:p.(Asn2524His)	NC_000006.11:g.56433345T>G	VUS	1 lab	6b05df566b
2:25384593 POMC A>G	2	25384593	25384593	A	G	POMC	c.161T>C	NM_001035256.3	NP_001030333.1:p.(Leu54Pro)	NC_000002.11:g.25384593A>G	VUS	1 lab	6b0ab69420
20:56227295 PMEPA1 C>T	20	56227295	56227295	C	T	PMEPA1	c.678G>A	NM_020182.5	NP_064567.2:p.(Glu226=)	NC_000020.10:g.56227295C>T	(Likely) benign	1 lab	6b0b7ce8f5
2:21239862 APOB T>A	2	21239862	21239862	T	A	APOB	c.3122-341A>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239862T>A	(Likely) benign	1 lab	6b0e9555bc
11:1018363 MUC6 G>A	11	1018363	1018363	G	A	MUC6	c.4438C>T	NM_005961.3	NP_005952.2:p.(Pro1480Ser)	NC_000011.9:g.1018363G>A	(Likely) benign	1 lab	6b0f8efea1
13:23910808 SACS CAA>C	13	23910808	23910810	CAA	C	SACS	c.7205_7206del	NM_014363.6	NP_055178.3:p.(Leu2402ArgfsTer6)	NC_000013.10:g.23910809_23910810del	(Likely) pathogenic	1 lab	6b19724f94
14:77908930 VIPAS39 TC>T	14	77908930	77908934	TC	T	VIPAS39	c.706del	NM_001193314.2	NP_001180243.1:p.(Asp236IlefsTer6)	NC_000014.8:g.77908934del	(Likely) pathogenic	1 lab	6b19f1be5c
X:17215094 MISSING Ref too long to show for this DEL>C	X	17215094	25007949	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.17215096_25007949del	(Likely) pathogenic	1 lab	6b1dcd3ec3
21:42868181 MISSING Ref too long to show for this DEL>A	21	42868181	42944930	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.42868182_42944930del	VUS	1 lab	6b21f68716
16:3562415 CLUAP1 G>A	16	3562415	3562415	G	A	CLUAP1	c.432G>A	NM_015041.3	NP_055856.1:p.(Ala144=)	NC_000016.9:g.3562415G>A	(Likely) benign	1 lab	6b2560dd81
11:118960429 HMBS C>T	11	118960429	118960429	C	T	HMBS	c.303C>T	NM_000190.4	NP_000181.2:p.(Pro101=)	NC_000011.9:g.118960429C>T	(Likely) benign	1 lab	6b2a3521e2
11:47368308 MYBPC3 G>A	11	47368308	47368308	G	A	MYBPC3	c.909-113C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368308G>A	(Likely) benign	1 lab	6b2b73e30d
17:59861723 BRIP1 C>T	17	59861723	59861723	C	T	BRIP1	c.1536G>A	NM_032043.3	NP_114432.2:p.(Glu512=)	NC_000017.10:g.59861723C>T	(Likely) benign	1 lab	6b3084375f
2:179560816 TTN G>A	2	179560816	179560816	G	A	TTN	c.30983C>T	NM_001267550.2	NP_001254479.2:p.(Pro10328Leu)	NC_000002.11:g.179560816G>A	VUS	1 lab	6b3791a132
3:10105565 FANCD2 C>A	3	10105565	10105565	C	A	FANCD2	c.1917C>A	NM_033084.6	NP_149075.2:p.(Ile639=)	NC_000003.11:g.10105565C>A	(Likely) benign	1 lab	6b39c23cc6
20:742365 SLC52A3 A>G	20	742365	742365	A	G	SLC52A3	c.1177T>C	NM_033409.4	NP_212134.3:p.(Trp393Arg)	NC_000020.10:g.742365A>G	VUS	1 lab	6b3d0bd6d5
4:167993910 SPOCK3 A>Alt too long to show for this DUP	4	167993910	168034481	A	Alt too long to show for this DUP	SPOCK3	c.190-50792_190-10223dup	NM_001040159.2	NP_001035249.1:p.?	NC_000004.11:g.167993912_168034481dup	VUS	1 lab	6b3ee34542
1:2238078 SKI C>T	1	2238078	2238078	C	T	SKI	c.2061C>T	NM_003036.4	NP_003027.1:p.(Asp687=)	NC_000001.10:g.2238078C>T	(Likely) benign	1 lab	6b4bed4d59
4:123664576 BBS12 CACAGATGCA>C	4	123664576	123664586	CACAGATGCA	C	BBS12	c.1531_1539del	NM_001178007.2	NP_001171478.1:p.(Gln511_Gln513del)	NC_000004.11:g.123664578_123664586del	(Likely) pathogenic	1 lab	6b4f416287
17:48263348 COL1A1 C>T	17	48263348	48263348	C	T	COL1A1	c.4039G>A	NM_000088.4	NP_000079.2:p.(Asp1347Asn)	NC_000017.10:g.48263348C>T	VUS	1 lab	6b5a45b4ab
2:179476309 TTN G>A	2	179476309	179476309	G	A	TTN	c.50647C>T	NM_001267550.2	NP_001254479.2:p.(Pro16883Ser)	NC_000002.11:g.179476309G>A	VUS	1 lab	6b5b8a39b5
19:45410444 APOE G>A	19	45410444	45410444	G	A	APOE	c.121+520G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45410444G>A	(Likely) benign	1 lab	6b62971940
14:21802750 RPGRIP1 C>T	14	21802750	21802750	C	T	RPGRIP1	c.3239-14C>T	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21802750C>T	(Likely) benign	1 lab	6b639bc03b
18:47116543 LIPG T>TTGTG	18	47116543	47116578	T	TTGTG	LIPG	c.1482-296_1482-293dup	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116575_47116578dup	(Likely) benign	1 lab	6b6dc02973
2:96944355 SNRNP200 G>A	2	96944355	96944355	G	A	SNRNP200	c.5418C>T	NM_014014.5	NP_054733.2:p.(Asp1806=)	NC_000002.11:g.96944355G>A	(Likely) benign	1 lab	6b7266136c
8:94797463 TMEM67 T>G	8	94797463	94797463	T	G	TMEM67	c.1145T>G	NM_153704.6	NP_714915.3:p.(Ile382Ser)	NC_000008.10:g.94797463T>G	(Likely) benign	1 lab	6b75d90a8d
2:21236068 APOB C>T	2	21236068	21236068	C	T	APOB	c.4180G>A	NM_000384.3	NP_000375.3:p.(Asp1394Asn)	NC_000002.11:g.21236068C>T	VUS	1 lab	6b7842719a
16:1003923 LMF1 CCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA>C	16	1003923	1004031	CCAGCTTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA	C	LMF1	c.-52+326_-52+433del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003924_1004031del	(Likely) benign	1 lab	6b7a95b30c
12:21329802 SLCO1B1 A>G	12	21329802	21329802	A	G	SLCO1B1	c.452A>G	NM_006446.5	NP_006437.3:p.(Asn151Ser)	NC_000012.11:g.21329802A>G	VUS	1 lab	6b827fa135
10:27702136 PTCHD3 A>G	10	27702136	27702136	A	G	PTCHD3	c.1044T>C	NM_001034842.4	NP_001030014.2:p.(Asp348=)	NC_000010.10:g.27702136A>G	(Likely) benign	1 lab	6b84e69a1a
1:94563992 ABCA4 G>A	1	94563992	94563992	G	A	ABCA4	c.768+358C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94563992G>A	(Likely) pathogenic	1 lab	6b8a4eb00b
2:21228730 APOB C>T	2	21228730	21228730	C	T	APOB	c.11010G>A	NM_000384.3	NP_000375.3:p.(Arg3670=)	NC_000002.11:g.21228730C>T	(Likely) benign	1 lab	6b8b8675e1
9:140458961 MISSING Ref too long to show for this DEL>G	9	140458961	140638108	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.140458962_140638108del	(Likely) pathogenic	1 lab	6b8c6710d9
3:132013318 MISSING Ref too long to show for this DEL>T	3	132013318	135294345	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.132013319_135294345del	(Likely) pathogenic	1 lab	6b9261139f
10:91478770 KIF20B Ref too long to show for this DEL>G	10	91478770	91503027	Ref too long to show for this DEL	G	KIF20B	c.1434+143_3916-538del	NM_001284259.2	NP_001271188.1:p.?	NC_000010.10:g.91478772_91503027del	VUS	1 lab	6b985cb478
2:21258601 APOB G>A	2	21258601	21258601	G	A	APOB	c.694-21C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21258601G>A	(Likely) benign	1 lab	6b99f72417
6:3225448 TUBB2B T>C	6	3225448	3225448	T	C	TUBB2B	c.875A>G	NM_178012.5	NP_821080.1:p.(Gln292Arg)	NC_000006.11:g.3225448T>C	(Likely) pathogenic	1 lab	6b9eb21507
X:103040509 PLP1 A>G	X	103040509	103040509	A	G	PLP1	c.5-2A>G	NM_001128834.3	NP_001122306.1:p.?	NC_000023.10:g.103040509A>G	(Likely) pathogenic	1 lab	6ba0aba9a8
9:139407980 NOTCH1 G>A	9	139407980	139407980	G	A	NOTCH1	c.2217C>T	NM_017617.5	NP_060087.3:p.(Cys739=)	NC_000009.11:g.139407980G>A	(Likely) benign	1 lab	6ba95f4b2d
22:40704547 TNRC6B G>A	22	40704547	40704547	G	A	TNRC6B	c.4152G>A	NM_001162501.2	NP_001155973.1:p.(Met1384Ile)	NC_000022.10:g.40704547G>A	VUS	1 lab	6bac1a264a
6:33380056 PHF1 C>CG	6	33380056	33380058	C	CG	PHF1	c.18dup	NM_002636.5	NP_002627.2:p.(Leu7AlafsTer37)	NC_000006.11:g.33380058dup	VUS	1 lab	6bb37da925
21:34927468 SON C>CAGCCGCACCCCCAGCCGCCGG	21	34927468	34927500	C	CAGCCGCACCCCCAGCCGCCGG	SON	c.5943_5963dup	NM_138927.4	NP_620305.3:p.(Ser1992_Arg1998dup)	NC_000021.8:g.34927480_34927500dup	(Likely) benign	1 lab	6bb6a6cf55
21:47154945 MISSING T>Alt too long to show for this DUP	21	47154945	47960091	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.47154946_47960091dup	VUS	1 lab	6bb7b32d1b
12:970296 WNK1 G>GA	12	970296	970306	G	GA	WNK1	c.1748dup	NM_001184985.2	NP_001171914.1:p.(Gln584AlafsTer27)	NC_000012.11:g.970306dup	(Likely) benign	1 lab	6bbd41dc5f
2:179469755 TTN C>T	2	179469755	179469755	C	T	TTN	c.54149G>A	NM_001267550.2	NP_001254479.2:p.(Arg18050His)	NC_000002.11:g.179469755C>T	VUS	1 lab	6bbed93e70
19:47112123 CALM3 C>T	19	47112123	47112123	C	T	CALM3	c.306C>T	NM_001329922.1	NP_001316851.1:p.(Ser102=)	NC_000019.9:g.47112123C>T	(Likely) benign	1 lab	6bc195be84
15:62201333 VPS13C GA>G	15	62201333	62201344	GA	G	VPS13C	c.8845-10del	NM_001018088.3	NP_001018098.1:p.?	NC_000015.9:g.62201344del	(Likely) benign	1 lab	6bc35fae41
12:21353618 SLCO1B1 T>G	12	21353618	21353618	T	G	SLCO1B1	c.1135+12T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353618T>G	(Likely) benign	1 lab	6bc66e0d1e
22:46780446 CELSR1 C>T	22	46780446	46780446	C	T	CELSR1	c.6877G>A	NM_001378328.1	NP_001365257.1:p.(Glu2293Lys)	NC_000022.10:g.46780446C>T	(Likely) benign	1 lab	6bc7b6b42c
9:130236077 LRSAM1 C>T	9	130236077	130236077	C	T	LRSAM1	c.620-3C>T	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130236077C>T	VUS	1 lab	6bc7f59c0c
6:56417688 DST G>A	6	56417688	56417688	G	A	DST	c.9545C>T	NM_001144769.5	NP_001138241.1:p.(Ser3182Leu)	NC_000006.11:g.56417688G>A	VUS	1 lab	6bd5624a47
2:61009815 PAPOLG A>T	2	61009815	61009815	A	T	PAPOLG	c.1028-6A>T	NM_022894.4	NP_075045.2:p.?	NC_000002.11:g.61009815A>T	(Likely) benign	1 lab	6bd8ee1d0f
11:47366448 MYBPC3 T>C	11	47366448	47366448	T	C	MYBPC3	c.1091-1273A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366448T>C	(Likely) benign	1 lab	6bdce98944
19:40901402 PRX G>A	19	40901402	40901402	G	A	PRX	c.2857C>T	NM_181882.3	NP_870998.2:p.(Arg953Ter)	NC_000019.9:g.40901402G>A	(Likely) pathogenic	1 lab	6becb73877
X:1422849 MISSING Ref too long to show for this DEL>T	X	1422849	1506403	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.1422850_1506403del	VUS	1 lab	6bf5a849fc
14:76447112 TGFB3 G>C	14	76447112	76447112	G	C	TGFB3	c.125C>G	NM_003239.5	NP_003230.1:p.(Ala42Gly)	NC_000014.8:g.76447112G>C	VUS	1 lab	6bf6c4b006
20:13140736 SPTLC3 G>A	20	13140736	13140736	G	A	SPTLC3	c.1502G>A	NM_001349945.2	NP_001336874.1:p.(Arg501Gln)	NC_000020.10:g.13140736G>A	VUS	1 lab	6bf8890fcf
12:110224615 TRPV4 G>A	12	110224615	110224615	G	A	TRPV4	c.2236C>T	NM_021625.5	NP_067638.3:p.(Arg746Cys)	NC_000012.11:g.110224615G>A	VUS	1 lab	6bfe1de5a8
2:179489236 TTN C>T	2	179489236	179489236	C	T	TTN	c.44771G>A	NM_001267550.2	NP_001254479.2:p.(Cys14924Tyr)	NC_000002.11:g.179489236C>T	VUS	1 lab	6c042e2416
4:95027107 MISSING Ref too long to show for this DEL>T	4	95027107	104473980	Ref too long to show for this DEL	T	MISSING				NC_000004.11:g.95027109_104473980del	(Likely) pathogenic	1 lab	6c08d9b24d
19:55317527 KIR2DL4 GGA>G	19	55317527	55317529	GGA	G	KIR2DL4	c.484_485del	NM_001080772.2	NP_001074241.1:p.(Glu162SerfsTer3)	NC_000019.9:g.55317528_55317529del	(Likely) benign	1 lab	6c0c52001c
3:38647685 SCN5A T>G	3	38647685	38647685	T	G	SCN5A	c.1141-46A>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647685T>G	(Likely) benign	1 lab	6c1058e409
22:42221698 CCDC134 T>A	22	42221698	42221698	T	A	CCDC134	c.565-4T>A	NM_024821.5	NP_079097.1:p.?	NC_000022.10:g.42221698T>A	(Likely) benign	1 lab	6c108fb81a
11:119215007 C1QTNF5 A>G	11	119215007	119215007	A	G	C1QTNF5	c.-1662+18T>C	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119215007A>G	(Likely) benign	1 lab	6c110b9b8c
17:66296829 ARSG A>Alt too long to show for this DUP	17	66296829	66344584	A	Alt too long to show for this DUP	ARSG	c.-551-6252_454+1271dup	NM_001267727.2	NP_001254656.1:p.?	NC_000017.10:g.66296832_66344584dup	VUS	1 lab	6c13222305
11:77823698 ALG8 A>G	11	77823698	77823698	A	G	ALG8	c.896T>C	NM_001007027.3	NP_001007028.1:p.(Ile299Thr)	NC_000011.9:g.77823698A>G	(Likely) benign	1 lab	6c144cb225
11:116707010 APOA1 C>T	11	116707010	116707010	C	T	APOA1	c.318G>A	NM_001318017.2	NP_001304946.1:p.(Leu106=)	NC_000011.9:g.116707010C>T	(Likely) benign	1 lab	6c1491a5f9
9:2647558 VLDLR A>G	9	2647558	2647558	A	G	VLDLR	c.1788A>G	NM_003383.5	NP_003374.3:p.(Thr596=)	NC_000009.11:g.2647558A>G	(Likely) benign	1 lab	6c16c28fe3
15:58838105 LIPC G>A	15	58838105	58838105	G	A	LIPC	c.739G>A	NM_000236.3	NP_000227.2:p.(Gly247Arg)	NC_000015.9:g.58838105G>A	VUS	1 lab	6c1b593781
3:49692910 BSN A>C	3	49692910	49692910	A	C	BSN	c.5921A>C	NM_003458.4	NP_003449.2:p.(Gln1974Pro)	NC_000003.11:g.49692910A>C	(Likely) benign	1 lab	6c213840dc
5:86637116 RASA1 G>T	5	86637116	86637116	G	T	RASA1	c.1027G>T	NM_002890.3	NP_002881.1:p.(Glu343Ter)	NC_000005.9:g.86637116G>T	(Likely) pathogenic	1 lab	6c293be078
16:57280053 ARL2BP G>C	16	57280053	57280053	G	C	ARL2BP	c.100G>C	NM_012106.4	NP_036238.1:p.(Asp34His)	NC_000016.9:g.57280053G>C	VUS	1 lab	6c2bebb9f1
1:63063363 ANGPTL3 T>C	1	63063363	63063363	T	C	ANGPTL3	c.126T>C	NM_014495.4	NP_055310.1:p.(Asp42=)	NC_000001.10:g.63063363T>C	(Likely) benign	1 lab	6c34e2f469
1:55524387 PCSK9 T>C	1	55524387	55524387	T	C	PCSK9	c.1503+67T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524387T>C	(Likely) benign	1 lab	6c35e579a6
3:10122927 FANCD2 C>T	3	10122927	10122927	C	T	FANCD2	c.3105+15C>T	NM_033084.6	NP_149075.2:p.?	NC_000003.11:g.10122927C>T	(Likely) benign	1 lab	6c40c18183
12:51381807 MISSING Ref too long to show for this DEL>G	12	51381807	53072362	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.51381811_53072362del	(Likely) pathogenic	1 lab	6c45cb2111
1:25889342 LDLRAP1 CAG>C	1	25889342	25889346	CAG	C	LDLRAP1	c.532+138_532+139del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889345_25889346del	(Likely) benign	1 lab	6c48d3392d
16:28568820 MISSING G>Alt too long to show for this DUP	16	28568820	28632021	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.28568822_28632021dup	VUS	1 lab	6c4b9cedf2
15:86820738 AGBL1 Ref too long to show for this DEL>G	15	86820738	86837053	Ref too long to show for this DEL	G	AGBL1	c.2076-2131_2221-1433del	NM_001386094.1	NP_001373023.1:p.?	NC_000015.9:g.86820739_86837053del	VUS	1 lab	6c4bec6a6f
14:105173879 INF2 A>C	14	105173879	105173879	A	C	INF2	c.1275A>C	NM_001031714.4	NP_001026884.3:p.(Pro425=)	NC_000014.8:g.105173879A>C	(Likely) benign	1 lab	6c4f4d490f
4:114277753 ANK2 T>A	4	114277753	114277753	T	A	ANK2	c.7979T>A	NM_001148.6	NP_001139.3:p.(Val2660Glu)	NC_000004.11:g.114277753T>A	VUS	1 lab	6c4f5b064a
2:179572311 TTN C>T	2	179572311	179572311	C	T	TTN	c.28983G>A	NM_001267550.2	NP_001254479.2:p.(Val9661=)	NC_000002.11:g.179572311C>T	VUS	1 lab	6c4f8d2441
16:70305666 AARS1 G>T	16	70305666	70305666	G	T	AARS1	c.671+18C>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70305666G>T	(Likely) benign	1 lab	6c5086a0cd
2:21232013 APOB C>T	2	21232013	21232013	C	T	APOB	c.7727G>A	NM_000384.3	NP_000375.3:p.(Arg2576His)	NC_000002.11:g.21232013C>T	VUS	1 lab	6c52425f3e
5:178564813 ADAMTS2 G>A	5	178564813	178564813	G	A	ADAMTS2	c.1908C>T	NM_014244.5	NP_055059.2:p.(His636=)	NC_000005.9:g.178564813G>A	(Likely) benign	1 lab	6c52c596a9
1:43232568 P3H1 C>G	1	43232568	43232568	C	G	P3H1	c.75G>C	NM_022356.4	NP_071751.3:p.(Glu25Asp)	NC_000001.10:g.43232568C>G	(Likely) benign	1 lab	6c569cd0de
6:16146915 MYLIP G>A	6	16146915	16146915	G	A	MYLIP	c.1271G>A	NM_013262.4	NP_037394.2:p.(Arg424His)	NC_000006.11:g.16146915G>A	(Likely) benign	1 lab	6c570ac040
2:21227936 APOB G>A	2	21227936	21227936	G	A	APOB	c.11788+16C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227936G>A	(Likely) benign	1 lab	6c57344a71
18:47095881 LIPG A>C	18	47095881	47095881	A	C	LIPG	c.534A>C	NM_006033.4	NP_006024.1:p.(Ala178=)	NC_000018.9:g.47095881A>C	(Likely) benign	1 lab	6c58aec625
19:40900179 PRX TTCCTCC>T	19	40900179	40900202	TTCCTCC	T	PRX	c.4074_4079del	NM_181882.3	NP_870998.2:p.(Glu1360_Glu1361del)	NC_000019.9:g.40900197_40900202del	(Likely) benign	1 lab	6c5bea3f62
13:32911870 BRCA2 AT>A	13	32911870	32911873	AT	A	BRCA2	c.3381del	NM_000059.4	NP_000050.3:p.(Phe1127LeufsTer23)	NC_000013.10:g.32911873del	(Likely) pathogenic	1 lab	6c643b10a5
1:63069821 ANGPTL3 T>C	1	63069821	63069821	T	C	ANGPTL3	c.1113T>C	NM_014495.4	NP_055310.1:p.(Asn371=)	NC_000001.10:g.63069821T>C	(Likely) benign	1 lab	6c64fe0c77
9:107645320 ABCA1 T>C	9	107645320	107645320	T	C	ABCA1	c.421A>G	NM_005502.4	NP_005493.2:p.(Asn141Asp)	NC_000009.11:g.107645320T>C	VUS	1 lab	6c68323f66
9:123919831 CNTRL A>G	9	123919831	123919831	A	G	CNTRL	c.4449A>G	NM_007018.6	NP_008949.4:p.(Arg1483=)	NC_000009.11:g.123919831A>G	(Likely) benign	1 lab	6c6b6f8a62
7:92733766 SAMD9 C>A	7	92733766	92733766	C	A	SAMD9	c.1645G>T	NM_017654.4	NP_060124.2:p.(Val549Leu)	NC_000007.13:g.92733766C>A	(Likely) benign	1 lab	6c6e9729f7
8:139824123 COL22A1 T>G	8	139824123	139824123	T	G	COL22A1	c.1368A>C	NM_152888.3	NP_690848.1:p.(Pro456=)	NC_000008.10:g.139824123T>G	(Likely) benign	1 lab	6c6fb17025
15:48781791 FBN1 C>T	15	48781791	48781791	C	T	FBN1	c.3082+257G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48781791C>T	(Likely) benign	1 lab	6c741a9998
22:20650644 MISSING Ref too long to show for this DEL>C	22	20650644	21522853	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.20650646_21522853del	(Likely) pathogenic	1 lab	6c934556f6
2:39224147 SOS1 A>G	2	39224147	39224147	A	G	SOS1	c.2997T>C	NM_005633.4	NP_005624.2:p.(Asn999=)	NC_000002.11:g.39224147A>G	(Likely) benign	1 lab	6c761ba74b
6:75833152 COL12A1 C>G	6	75833152	75833152	C	G	COL12A1	c.6872-32G>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75833152C>G	(Likely) benign	1 lab	6c763bc88b
15:44955572 SPG11 T>C	15	44955572	44955572	T	C	SPG11	c.257+17A>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44955572T>C	(Likely) benign	1 lab	6c764da484
22:51117570 SHANK3 C>T	22	51117570	51117570	C	T	SHANK3	c.949C>T	NM_001372044.2	NP_001358973.1:p.(Gln317Ter)	NC_000022.10:g.51117570C>T	(Likely) pathogenic	1 lab	6c768b4b99
15:30992305 MISSING Ref too long to show for this DEL>T	15	30992305	32915353	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.30992306_32915353del	(Likely) pathogenic	1 lab	6c78888f7f
1:12052605 MFN2 C>T	1	12052605	12052605	C	T	MFN2	c.176-7C>T	NM_014874.4	NP_055689.1:p.?	NC_000001.10:g.12052605C>T	(Likely) benign	1 lab	6c80a2991e
2:198266834 SF3B1 T>C	2	198266834	198266834	T	C	SF3B1	c.2098A>G	NM_012433.4	NP_036565.2:p.(Lys700Glu)	NC_000002.11:g.198266834T>C	VUS	1 lab	6c80d89c80
1:20972304 PINK1 GGTTTTGTGTTCTAA>G	1	20972304	20972320	GGTTTTGTGTTCTAA	G	PINK1	c.1123+91_1123+104del	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20972307_20972320del	(Likely) benign	1 lab	6c848787bd
8:92364100 SLC26A7 T>C	8	92364100	92364100	T	C	SLC26A7	c.1203T>C	NM_001282356.2	NP_001269285.1:p.(Leu401=)	NC_000008.10:g.92364100T>C	(Likely) benign	1 lab	6c874e9b27
7:114582422 MDFIC G>T	7	114582422	114582422	G	T	MDFIC	c.187G>T	NM_001166345.1	NP_001159817.1:p.(Gly63Ter)	NC_000007.13:g.114582422G>T	(Likely) pathogenic	1 lab	6c884a2182
3:38738939 SCN10A G>A	3	38738939	38738939	G	A	SCN10A	c.5772C>T	NM_006514.4	NP_006505.4:p.(Val1924=)	NC_000003.11:g.38738939G>A	(Likely) benign	1 lab	6c88fa9356
15:67462941 SMAD3 G>C	15	67462941	67462941	G	C	SMAD3	c.657G>C	NM_005902.4	NP_005893.1:p.(Leu219Phe)	NC_000015.9:g.67462941G>C	VUS	1 lab	6c8bd0139f
9:107560848 ABCA1 T>G	9	107560848	107560848	T	G	ABCA1	c.4975A>C	NM_005502.4	NP_005493.2:p.(Ile1659Leu)	NC_000009.11:g.107560848T>G	VUS	1 lab	6c8d59e166
2:179611687 TTN T>G	2	179611687	179611687	T	G	TTN	c.15440A>C	NM_133379.5	NP_596870.2:p.(His5147Pro)	NC_000002.11:g.179611687T>G	(Likely) benign	1 lab	6c8dd1dcde
11:61727482 BEST1 G>T	11	61727482	61727482	G	T	BEST1	c.1270G>T	NM_001363592.1	NP_001350521.1:p.(Glu424Ter)	NC_000011.9:g.61727482G>T	VUS	1 lab	6c8e69e884
12:127285871 MISSING A>Alt too long to show for this DUP	12	127285871	127861757	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.127285875_127861757dup	VUS	1 lab	6c8f62824f
18:25573508 CDH2 C>T	18	25573508	25573508	C	T	CDH2	c.1114G>A	NM_001792.5	NP_001783.2:p.(Val372Met)	NC_000018.9:g.25573508C>T	VUS	1 lab	6c9636681b
1:236925932 ACTN2 G>T	1	236925932	236925932	G	T	ACTN2	c.*13G>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236925932G>T	(Likely) benign	1 lab	6c9d61757d
18:19424038 MIB1 A>C	18	19424038	19424038	A	C	MIB1	c.2050-15A>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19424038A>C	(Likely) benign	1 lab	6ca1afcc6f
7:86173960 MISSING G>Alt too long to show for this DUP	7	86173960	86271518	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.86173961_86271518dup	VUS	1 lab	6ca3f08e5f
12:110246264 TRPV4 C>T	12	110246264	110246264	C	T	TRPV4	c.396G>A	NM_021625.5	NP_067638.3:p.(Pro132=)	NC_000012.11:g.110246264C>T	(Likely) benign	1 lab	6caa7d66a2
2:106002865 FHL2 C>A	2	106002865	106002865	C	A	FHL2	c.109G>T	NM_201555.2	NP_963849.1:p.(Ala37Ser)	NC_000002.11:g.106002865C>A	(Likely) benign	1 lab	6cb20bc261
X:85213970 CHM G>A	X	85213970	85213970	G	A	CHM	c.271C>T	NM_001362517.1	NP_001349446.1:p.(Arg91Ter)	NC_000023.10:g.85213970G>A	(Likely) pathogenic	1 lab	6cba049cd2
18:47102102 LIPG A>G	18	47102102	47102102	A	G	LIPG	c.793+142A>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47102102A>G	(Likely) benign	1 lab	6cbafff8c2
5:113576 MISSING Ref too long to show for this DEL>C	5	113576	8057977	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.113580_8057977del	(Likely) pathogenic	1 lab	6cbe5c5eb2
9:113128844 SVEP1 G>GA	9	113128844	113128858	G	GA	SVEP1	c.10695-5dup	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113128858dup	(Likely) benign	1 lab	6cc0e74263
7:100644082 MUC12 G>A	7	100644082	100644082	G	A	MUC12	c.10238G>A	NM_001164462.1	NP_001157934.1:p.(Ser3413Asn)	NC_000007.13:g.100644082G>A	(Likely) benign	1 lab	6cc77fb2af
5:37206510 CPLANE1 T>G	5	37206510	37206510	T	G	CPLANE1	c.2938A>C	NM_023073.4	NP_075561.3:p.(Ile980Leu)	NC_000005.9:g.37206510T>G	VUS	1 lab	6cca5babd1
4:114251386 ANK2 C>G	4	114251386	114251386	C	G	ANK2	c.2901-16C>G	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114251386C>G	(Likely) benign	1 lab	6ccc02d736
3:7431945 GRM7 Ref too long to show for this DEL>T	3	7431945	7454131	Ref too long to show for this DEL	T	GRM7	c.1034-24762_1034-2579del	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.7431948_7454131del	VUS	1 lab	6ccd8b8294
16:941885 LMF1 CA>C	16	941885	941886	CA	C	LMF1	c.330+1121del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.941886del	(Likely) benign	1 lab	6cd2b27565
11:27695703 BDNF T>C	11	27695703	27695703	T	C	BDNF	c.129A>G	NM_001143810.2	NP_001137282.1:p.(Val43=)	NC_000011.9:g.27695703T>C	(Likely) benign	1 lab	6cd50cf074
1:116310999 CASQ2 T>C	1	116310999	116310999	T	C	CASQ2	c.164A>G	NM_001232.4	NP_001223.2:p.(Tyr55Cys)	NC_000001.10:g.116310999T>C	(Likely) pathogenic	1 lab	6cd8d501a3
9:107665916 ABCA1 G>A	9	107665916	107665916	G	A	ABCA1	c.45C>T	NM_005502.4	NP_005493.2:p.(Leu15=)	NC_000009.11:g.107665916G>A	(Likely) benign	1 lab	6cdd23cd67
19:11231545 LDLR A>G	19	11231545	11231545	A	G	LDLR	c.2140+347A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231545A>G	(Likely) benign	1 lab	6cf040efa1
5:10258512 CCT5 G>A	5	10258512	10258512	G	A	CCT5	c.573G>A	NM_001306154.2	NP_001293083.1:p.(Ala191=)	NC_000005.9:g.10258512G>A	(Likely) benign	1 lab	6cf2b8b813
19:42874984 MEGF8 G>A	19	42874984	42874984	G	A	MEGF8	c.7136+1G>A	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42874984G>A	(Likely) pathogenic	1 lab	6cf39d054c
10:90975757 LIPA A>C	10	90975757	90975757	A	C	LIPA	c.904T>G	NM_000235.4	NP_000226.2:p.(Phe302Val)	NC_000010.10:g.90975757A>C	VUS	1 lab	6cf4e5899c
15:23890948 MAGEL2 G>A	15	23890948	23890948	G	A	MAGEL2	c.1942C>T	NM_019066.5	NP_061939.3:p.(Pro648Ser)	NC_000015.9:g.23890948G>A	VUS	1 lab	6cf5ee63be
18:58038687 MC4R G>T	18	58038687	58038687	G	T	MC4R	c.896C>A	NM_005912.3	NP_005903.2:p.(Pro299His)	NC_000018.9:g.58038687G>T	(Likely) pathogenic	1 lab	6cf6859ab6
7:55229188 EGFR G>A	7	55229188	55229188	G	A	EGFR	c.1499-4G>A	NM_005228.5	NP_005219.2:p.?	NC_000007.13:g.55229188G>A	(Likely) benign	1 lab	6cf9e685ad
1:55522116 PCSK9 G>C	1	55522116	55522116	G	C	PCSK9	c.996+254G>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522116G>C	(Likely) benign	1 lab	6cfd476bc8
12:76741303 BBS10 CA>C	12	76741303	76741308	CA	C	BBS10	c.461del	NM_024685.4	NP_078961.3:p.(Leu154CysfsTer17)	NC_000012.11:g.76741308del	(Likely) pathogenic	1 lab	6cfdc8b7a9
8:134276837 NDRG1 T>C	8	134276837	134276837	T	C	NDRG1	c.158A>G	NM_001135242.2	NP_001128714.1:p.(Lys53Arg)	NC_000008.10:g.134276837T>C	VUS	1 lab	6cfec4e431
17:48267861 COL1A1 G>A	17	48267861	48267861	G	A	COL1A1	c.2397+43C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267861G>A	(Likely) benign	1 lab	6d0653e7b8
8:59405052 CYP7A1 C>A	8	59405052	59405052	C	A	CYP7A1	c.1075G>T	NM_000780.4	NP_000771.2:p.(Ala359Ser)	NC_000008.10:g.59405052C>A	VUS	1 lab	6d0a938241
1:63069684 ANGPTL3 C>A	1	63069684	63069684	C	A	ANGPTL3	c.976C>A	NM_014495.4	NP_055310.1:p.(Gln326Lys)	NC_000001.10:g.63069684C>A	(Likely) benign	1 lab	6d19350cbc
2:166847993 SCN1A A>G	2	166847993	166847993	A	G	SCN1A	c.5792T>C	NM_001165963.4	NP_001159435.1:p.(Leu1931Ser)	NC_000002.11:g.166847993A>G	VUS	1 lab	6d1cd69e50
7:100855107 PLOD3 G>A	7	100855107	100855107	G	A	PLOD3	c.1232+20C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100855107G>A	(Likely) benign	1 lab	6d1d470666
2:189873428 COL3A1 G>A	2	189873428	189873428	G	A	COL3A1	c.3526-222G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189873428G>A	(Likely) benign	1 lab	6d21d3fc18
20:57474026 GNAS G>A	20	57474026	57474026	G	A	GNAS	c.2172G>A	NM_080425.4	NP_536350.2:p.(Arg724=)	NC_000020.10:g.57474026G>A	(Likely) benign	1 lab	6d30a6b5b0
X:119590533 LAMP2 T>C	X	119590533	119590533	T	C	LAMP2	c.156A>G	NM_002294.3	NP_002285.1:p.(Val52=)	NC_000023.10:g.119590533T>C	(Likely) benign	1 lab	6d3192e299
4:100540129 MTTP A>G	4	100540129	100540129	A	G	MTTP	c.2218-2A>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100540129A>G	(Likely) pathogenic	1 lab	6d3f22ec59
7:55620602 MISSING Ref too long to show for this DEL>T	7	55620602	55655142	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.55620603_55655142del	VUS	1 lab	6d43d98cbd
2:179416723 TTN C>A	2	179416723	179416723	C	A	TTN	c.90904G>T	NM_001267550.2	NP_001254479.2:p.(Glu30302Ter)	NC_000002.11:g.179416723C>A	(Likely) pathogenic	1 lab	6d43f49f81
8:94940769 MISSING A>Alt too long to show for this DUP	8	94940769	95207786	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.94940770_95207786dup	VUS	1 lab	6d49086a06
1:151733379 MRPL9 CA>C	1	151733379	151733402	CA	C	MRPL9	c.589-5del	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151733402del	(Likely) benign	1 lab	6d50172ca7
19:8160334 FBN3 G>A	19	8160334	8160334	G	A	FBN3	c.5710C>T	NM_032447.5	NP_115823.3:p.(Leu1904Phe)	NC_000019.9:g.8160334G>A	(Likely) benign	1 lab	6d58100603
8:133899451 TG C>A	8	133899451	133899451	C	A	TG	c.1834C>A	NM_003235.5	NP_003226.4:p.(Pro612Thr)	NC_000008.10:g.133899451C>A	(Likely) benign	1 lab	6d58a6cb3e
22:50893514 SBF1 C>T	22	50893514	50893514	C	T	SBF1	c.4612G>A	NM_002972.4	NP_002963.2:p.(Gly1538Ser)	NC_000022.10:g.50893514C>T	VUS	1 lab	6d5b51ed56
10:48221500 AGAP9 C>T	10	48221500	48221500	C	T	AGAP9	c.362-5C>T	NM_001190810.1	NP_001177739.1:p.?	NC_000010.10:g.48221500C>T	(Likely) benign	1 lab	6d5c603a31
11:65487769 RNASEH2C G>A	11	65487769	65487769	G	A	RNASEH2C	c.292C>T	NM_032193.4	NP_115569.2:p.(Pro98Ser)	NC_000011.9:g.65487769G>A	VUS	1 lab	6d60aa765c
3:53844069 CACNA1D G>A	3	53844069	53844069	G	A	CACNA1D	c.5996G>A	NM_000720.4	NP_000711.1:p.(Arg1999Gln)	NC_000003.11:g.53844069G>A	(Likely) benign	1 lab	6d65e246a5
9:133540063 PRDM12 C>T	9	133540063	133540063	C	T	PRDM12	c.23C>T	NM_021619.3	NP_067632.2:p.(Ala8Val)	NC_000009.11:g.133540063C>T	VUS	1 lab	6d69ecfa24
2:15614419 NBAS A>C	2	15614419	15614419	A	C	NBAS	c.1371T>G	NM_015909.4	NP_056993.2:p.(Ser457=)	NC_000002.11:g.15614419A>C	(Likely) benign	1 lab	6d6a0472da
2:21266730 APOB A>C	2	21266730	21266730	A	C	APOB	c.82+6T>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266730A>C	VUS	1 lab	6d6c552f67
7:128484032 FLNC C>T	7	128484032	128484032	C	T	FLNC	c.2930-26C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128484032C>T	(Likely) benign	1 lab	6d6ce6b22e
2:73718581 ALMS1 C>T	2	73718581	73718581	C	T	ALMS1	c.9498C>T	NM_015120.4	NP_055935.4:p.(Phe3166=)	NC_000002.11:g.73718581C>T	(Likely) benign	1 lab	6d6d4b25ed
19:49671360 TRPM4 C>T	19	49671360	49671360	C	T	TRPM4	c.448+6C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49671360C>T	(Likely) benign	1 lab	6d6fe7301e
11:47364865 MYBPC3 C>CGAGACAAAA	11	47364865	47364875	C	CGAGACAAAA	MYBPC3	c.1224-61_1224-53dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364867_47364875dup	(Likely) benign	1 lab	6d735d7edf
20:60734914 SS18L1 C>G	20	60734914	60734914	C	G	SS18L1	c.-167-19C>G	NM_001301778.2	NP_001288707.1:p.?	NC_000020.10:g.60734914C>G	(Likely) benign	1 lab	6d738d2e38
18:47107831 LIPG C>G	18	47107831	47107831	C	G	LIPG	c.840C>G	NM_006033.4	NP_006024.1:p.(Leu280=)	NC_000018.9:g.47107831C>G	(Likely) benign	1 lab	6d76bece6a
15:85403216 ALPK3 T>A	15	85403216	85403216	T	A	ALPK3	c.4094-52T>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85403216T>A	(Likely) benign	1 lab	6d8089251b
1:103483418 COL11A1 A>C	1	103483418	103483418	A	C	COL11A1	c.1407T>G	NM_080629.3	NP_542196.2:p.(Gly469=)	NC_000001.10:g.103483418A>C	(Likely) benign	1 lab	6d8304cdd2
12:106804629 POLR3B A>G	12	106804629	106804629	A	G	POLR3B	c.992A>G	NM_018082.6	NP_060552.4:p.(Lys331Arg)	NC_000012.11:g.106804629A>G	VUS	1 lab	6d8776b2ca
16:56995978 CETP G>A	16	56995978	56995978	G	A	CETP	c.87G>A	NM_000078.3	NP_000069.2:p.(Val29=)	NC_000016.9:g.56995978G>A	(Likely) benign	1 lab	6d8cc15b2b
12:122255445 SETD1B G>A	12	122255445	122255445	G	A	SETD1B	c.3147G>A	NM_001353345.2	NP_001340274.1:p.(Ala1049=)	NC_000012.11:g.122255445G>A	(Likely) benign	1 lab	6d8e751a53
14:80669639 DIO2 TAA>T	14	80669639	80669654	TAA	T	DIO2	c.223-10_223-9del	NM_000793.6	NP_000784.3:p.?	NC_000014.8:g.80669653_80669654del	(Likely) benign	1 lab	6d9c9e41b2
2:179659758 TTN C>G	2	179659758	179659758	C	G	TTN	c.1136G>C	NM_001267550.2	NP_001254479.2:p.(Arg379Thr)	NC_000002.11:g.179659758C>G	VUS	1 lab	6d9eda191b
1:236889338 ACTN2 C>T	1	236889338	236889338	C	T	ACTN2	c.-286+18C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236889338C>T	(Likely) benign	1 lab	6da0e971e7
13:66859553 MISSING C>Alt too long to show for this DUP	13	66859553	67050341	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.66859555_67050341dup	(Likely) pathogenic	1 lab	6da1e37364
20:62626388 PRPF6 C>T	20	62626388	62626388	C	T	PRPF6	c.558C>T	NM_012469.4	NP_036601.2:p.(Phe186=)	NC_000020.10:g.62626388C>T	(Likely) benign	1 lab	6da2a45df2
15:73615392 HCN4 A>G	15	73615392	73615392	A	G	HCN4	c.3042T>C	NM_005477.3	NP_005468.1:p.(Ala1014=)	NC_000015.9:g.73615392A>G	(Likely) benign	1 lab	6da2e7ad00
9:107645210 ABCA1 C>T	9	107645210	107645210	C	T	ABCA1	c.421+110G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645210C>T	(Likely) benign	1 lab	6da50c9906
6:16141836 MYLIP A>G	6	16141836	16141836	A	G	MYLIP	c.279-20A>G	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16141836A>G	(Likely) benign	1 lab	6da558c416
13:96415954 DNAJC3 T>C	13	96415954	96415954	T	C	DNAJC3	c.906T>C	NM_006260.5	NP_006251.1:p.(Ala302=)	NC_000013.10:g.96415954T>C	(Likely) benign	1 lab	6da9da2181
1:6527333 PLEKHG5 A>G	1	6527333	6527333	A	G	PLEKHG5	c.*290T>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6527333A>G	(Likely) benign	1 lab	6dacceb62d
19:11223806 LDLR C>T	19	11223806	11223806	C	T	LDLR	c.1187-148C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223806C>T	(Likely) benign	1 lab	6dad44989d
15:22752398 MISSING Ref too long to show for this DEL>A	15	22752398	23282830	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22752399_23282830del	(Likely) pathogenic	1 lab	6dae1d0e1a
2:241727597 KIF1A G>A	2	241727597	241727597	G	A	KIF1A	c.234C>T	NM_001244008.2	NP_001230937.1:p.(Gly78=)	NC_000002.11:g.241727597G>A	(Likely) benign	1 lab	6db04c5a37
17:48271393 COL1A1 C>T	17	48271393	48271393	C	T	COL1A1	c.1678G>A	NM_000088.4	NP_000079.2:p.(Gly560Ser)	NC_000017.10:g.48271393C>T	(Likely) pathogenic	1 lab	6db0bc96b3
2:212530217 ERBB4 C>T	2	212530217	212530217	C	T	ERBB4	c.1717-15G>A	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212530217C>T	(Likely) benign	1 lab	6db3610d36
17:48265531 COL1A1 A>C	17	48265531	48265531	A	C	COL1A1	c.3208-21T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265531A>C	(Likely) benign	1 lab	6db8eadddf
X:48547839 WAS C>T	X	48547839	48547839	C	T	WAS	c.1453+16C>T	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48547839C>T	(Likely) benign	1 lab	6dbe9fa703
6:10756712 TMEM14B C>T	6	10756712	10756712	C	T	TMEM14B	c.306C>T	NM_030969.5	NP_112231.3:p.(Ala102=)	NC_000006.11:g.10756712C>T	(Likely) benign	1 lab	6dd241a2ec
7:150652595 KCNH2 G>A	7	150652595	150652595	G	A	KCNH2	c.-4C>T	NM_172057.3	NP_742054.1:p.?	NC_000007.13:g.150652595G>A	(Likely) benign	1 lab	6dd58f1787
2:236318076 MISSING C>Alt too long to show for this DUP	2	236318076	236518875	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.236318078_236518875dup	VUS	1 lab	6dd62ac77e
2:211459335 CPS1 G>C	2	211459335	211459335	G	C	CPS1	c.1263+5G>C	NM_001369257.1	NP_001356186.1:p.?	NC_000002.11:g.211459335G>C	(Likely) pathogenic	1 lab	6dd88c5351
6:32551920 HLA-DRB1 G>A	6	32551920	32551920	G	A	HLA-DRB1	c.336C>T	NM_002124.4	NP_002115.2:p.(Tyr112=)	NC_000006.11:g.32551920G>A	(Likely) benign	1 lab	6dd8a0e1cb
16:88793103 PIEZO1 C>G	16	88793103	88793103	C	G	PIEZO1	c.3699+20G>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793103C>G	(Likely) benign	1 lab	6dda382702
2:96930933 TMEM127 G>A	2	96930933	96930933	G	A	TMEM127	c.187C>T	NM_017849.4	NP_060319.1:p.(Arg63Cys)	NC_000002.11:g.96930933G>A	VUS	1 lab	6ddba29e28
16:89851287 FANCA G>C	16	89851287	89851287	G	C	FANCA	c.1445C>G	NM_000135.4	NP_000126.2:p.(Pro482Arg)	NC_000016.9:g.89851287G>C	VUS	1 lab	6ddf56aef1
3:37845418 ITGA9 C>T	3	37845418	37845418	C	T	ITGA9	c.2994C>T	NM_002207.3	NP_002198.2:p.(Ala998=)	NC_000003.11:g.37845418C>T	(Likely) benign	1 lab	6de16b56a6
2:44079550 ABCG8 A>G	2	44079550	44079550	A	G	ABCG8	c.619A>G	NM_022437.3	NP_071882.1:p.(Asn207Asp)	NC_000002.11:g.44079550A>G	(Likely) pathogenic	1 lab	6de1f88b09
18:28662279 DSC2 TA>T	18	28662279	28662283	TA	T	DSC2	c.1187del	NM_004949.5	NP_004940.1:p.(Leu396Ter)	NC_000018.9:g.28662283del	VUS	1 lab	6de61e0bd9
7:130396481 MISSING Ref too long to show for this DEL>A	7	130396481	130419633	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.130396483_130419633del	VUS	1 lab	6ded43afb0
18:45375317 SMAD2 G>A	18	45375317	45375317	G	A	SMAD2	c.785-259C>T	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375317G>A	(Likely) benign	1 lab	6ded9dca7e
7:81641570 CACNA2D1 G>A	7	81641570	81641570	G	A	CACNA2D1	c.1273-11C>T	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641570G>A	(Likely) benign	1 lab	6df2fc8be6
10:54048486 PRKG1 C>T	10	54048486	54048486	C	T	PRKG1	c.1665C>T	NM_001098512.3	NP_001091982.1:p.(Ser555=)	NC_000010.10:g.54048486C>T	(Likely) benign	1 lab	6df602a859
2:203165065 NOP58 C>A	2	203165065	203165065	C	A	NOP58	c.1377C>A	NM_015934.5	NP_057018.1:p.(Ala459=)	NC_000002.11:g.203165065C>A	(Likely) benign	1 lab	6e03e46692
12:125323803 SCARB1 G>A	12	125323803	125323803	G	A	SCARB1	c.-11C>T	NM_001367982.1	NP_001354911.1:p.?	NC_000012.11:g.125323803G>A	VUS	1 lab	6e04033c3d
19:11200089 LDLR C>T	19	11200089	11200089	C	T	LDLR				NC_000019.9:g.11200089C>T	(Likely) pathogenic	1 lab	6e04bb8162
22:46785301 CELSR1 C>T	22	46785301	46785301	C	T	CELSR1	c.6441G>A	NM_001378328.1	NP_001365257.1:p.(Thr2147=)	NC_000022.10:g.46785301C>T	(Likely) benign	1 lab	6e05e7e0cd
5:95743944 PCSK1 A>G	5	95743944	95743944	A	G	PCSK1	c.1179T>C	NM_000439.5	NP_000430.3:p.(Ala393=)	NC_000005.9:g.95743944A>G	(Likely) benign	1 lab	6e0ab95b49
6:72960158 RIMS1 T>C	6	72960158	72960158	T	C	RIMS1	c.2367T>C	NM_014989.6	NP_055804.2:p.(Asp789=)	NC_000006.11:g.72960158T>C	(Likely) benign	1 lab	6e0ec210a8
3:49699197 BSN A>G	3	49699197	49699197	A	G	BSN	c.9919A>G	NM_003458.4	NP_003449.2:p.(Ser3307Gly)	NC_000003.11:g.49699197A>G	(Likely) benign	1 lab	6e0ece189c
4:183720369 MISSING Ref too long to show for this DEL>A	4	183720369	183780220	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.183720370_183780220del	VUS	1 lab	6e0f0ca255
2:179565840 TTN A>G	2	179565840	179565840	A	G	TTN	c.30682+7T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179565840A>G	(Likely) benign	1 lab	6e18ab38b4
16:1004543 LMF1 A>G	16	1004543	1004543	A	G	LMF1	c.317T>C	NM_022773.4	NP_073610.2:p.(Val106Ala)	NC_000016.9:g.1004543A>G	(Likely) benign	1 lab	6e1a7b15b9
2:21233659 APOB T>C	2	21233659	21233659	T	C	APOB	c.6081A>G	NM_000384.3	NP_000375.3:p.(Pro2027=)	NC_000002.11:g.21233659T>C	(Likely) benign	1 lab	6e1b57e415
3:58109430 FLNB T>TA	3	58109430	58109453	T	TA	FLNB	c.3724+36dup	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58109453dup	(Likely) benign	1 lab	6e1b63ea62
9:79930355 VPS13A C>G	9	79930355	79930355	C	G	VPS13A	c.4599C>G	NM_033305.3	NP_150648.2:p.(Thr1533=)	NC_000009.11:g.79930355C>G	(Likely) benign	1 lab	6e1e6249d4
11:47356356 MYBPC3 T>C	11	47356356	47356356	T	C	MYBPC3	c.2905+237A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356356T>C	(Likely) benign	1 lab	6e1f6a3298
16:920823 LMF1 C>T	16	920823	920823	C	T	LMF1	c.739G>A	NM_001352018.2	NP_001338947.1:p.(Val247Met)	NC_000016.9:g.920823C>T	VUS	1 lab	6e22608812
1:213031780 FLVCR1 C>G	1	213031780	213031780	C	G	FLVCR1	c.-15C>G	NM_014053.4	NP_054772.1:p.?	NC_000001.10:g.213031780C>G	VUS	1 lab	6e2975f9eb
22:50893431 SBF1 G>A	22	50893431	50893431	G	A	SBF1	c.4681+14C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50893431G>A	(Likely) benign	1 lab	6e2dee43ac
2:21239443 APOB G>A	2	21239443	21239443	G	A	APOB	c.3200C>T	NM_000384.3	NP_000375.3:p.(Pro1067Leu)	NC_000002.11:g.21239443G>A	(Likely) benign	1 lab	6e2f927183
18:45395468 SMAD2 T>A	18	45395468	45395468	T	A	SMAD2	c.520+146A>T	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45395468T>A	(Likely) benign	1 lab	6e302faf0a
17:40695296 NAGLU C>T	17	40695296	40695296	C	T	NAGLU	c.1272C>T	NM_000263.4	NP_000254.2:p.(Asn424=)	NC_000017.10:g.40695296C>T	(Likely) benign	1 lab	6e356dfed4
17:17122447 FLCN ACT>A	17	17122447	17122453	ACT	A	FLCN	c.946_947del	NM_144997.7	NP_659434.2:p.(Ser316TyrfsTer73)	NC_000017.10:g.17122452_17122453del	(Likely) pathogenic	1 lab	6e3684fbd5
8:1871738 ARHGEF10 A>C	8	1871738	1871738	A	C	ARHGEF10	c.2436A>C	NM_001308153.2	NP_001295082.1:p.(Leu812Phe)	NC_000008.10:g.1871738A>C	VUS	1 lab	6e39fbaccf
19:11216227 LDLR CTG>C	19	11216227	11216231	CTG	C	LDLR	c.648_649del	NM_000527.5	NP_000518.1:p.(Cys216Ter)	NC_000019.9:g.11216230_11216231del	(Likely) pathogenic	1 lab	6e3bb31bd3
2:96943993 SNRNP200 T>C	2	96943993	96943993	T	C	SNRNP200	c.5592A>G	NM_014014.5	NP_054733.2:p.(Glu1864=)	NC_000002.11:g.96943993T>C	(Likely) benign	1 lab	6e3e3f3589
6:7565648 DSP C>T	6	7565648	7565648	C	T	DSP	c.834C>T	NM_004415.4	NP_004406.2:p.(Ala278=)	NC_000006.11:g.7565648C>T	(Likely) benign	1 lab	6e492710c1
2:69300191 ANTXR1 T>C	2	69300191	69300191	T	C	ANTXR1	c.450T>C	NM_032208.3	NP_115584.1:p.(Asp150=)	NC_000002.11:g.69300191T>C	(Likely) benign	1 lab	6e55730472
9:107581134 ABCA1 A>G	9	107581134	107581134	A	G	ABCA1	c.3272T>C	NM_005502.4	NP_005493.2:p.(Met1091Thr)	NC_000009.11:g.107581134A>G	VUS	1 lab	6e578cdea8
19:11216253 LDLR A>T	19	11216253	11216253	A	T	LDLR	c.671A>T	NM_000527.5	NP_000518.1:p.(Asp224Val)	NC_000019.9:g.11216253A>T	(Likely) pathogenic	1 lab	6e5ab4c7ef
15:22770420 MISSING Ref too long to show for this DEL>A	15	22770420	23282799	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770421_23282799del	(Likely) pathogenic	1 lab	6e5d00b4eb
9:79820337 VPS13A TA>T	9	79820337	79820344	TA	T	VPS13A	c.283+20del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79820344del	(Likely) benign	1 lab	6e6aaa2a76
1:236924423 ACTN2 G>A	1	236924423	236924423	G	A	ACTN2	c.1852G>A	NM_001278344.2	NP_001265273.1:p.(Asp618Asn)	NC_000001.10:g.236924423G>A	VUS	1 lab	6e6ada3d77
15:28483865 HERC2 G>A	15	28483865	28483865	G	A	HERC2	c.3631C>T	NM_004667.6	NP_004658.3:p.(Arg1211Cys)	NC_000015.9:g.28483865G>A	(Likely) benign	1 lab	6e70741500
X:70444061 GJB1 C>A	X	70444061	70444061	C	A	GJB1	c.504C>A	NM_000166.6	NP_000157.1:p.(Cys168Ter)	NC_000023.10:g.70444061C>A	VUS	1 lab	6e72b5472c
3:2980717 MISSING T>Alt too long to show for this DUP	3	2980717	3299198	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.2980718_3299198dup	(Likely) pathogenic	1 lab	6e7580dcbd
4:183721328 TENM3 G>A	4	183721328	183721328	G	A	TENM3	c.7924G>A	NM_001080477.4	NP_001073946.1:p.(Asp2642Asn)	NC_000004.11:g.183721328G>A	VUS	1 lab	6e88ffb1a3
1:150998838 MISSING G>Alt too long to show for this DUP	1	150998838	151051653	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.150998839_151051653dup	VUS	1 lab	6e8a140987
16:1003957 LMF1 CAA>C	16	1003957	1003960	CAA	C	LMF1	c.-52+398_-52+399del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003959_1003960del	(Likely) benign	1 lab	6e8a18708c
6:79752696 PHIP A>G	6	79752696	79752696	A	G	PHIP	c.464T>C	NM_017934.7	NP_060404.4:p.(Leu155Pro)	NC_000006.11:g.79752696A>G	(Likely) pathogenic	1 lab	6e8af87889
1:55527182 PCSK9 C>G	1	55527182	55527182	C	G	PCSK9	c.1816C>G	NM_174936.4	NP_777596.2:p.(Leu606Val)	NC_000001.10:g.55527182C>G	VUS	1 lab	6e8eedfd76
X:53261188 IQSEC2 T>Alt too long to show for this DUP	X	53261188	53268524	T	Alt too long to show for this DUP	IQSEC2				NC_000023.10:g.53261190_53268524dup	VUS	1 lab	6e963519c5
4:100522542 MTTP GAATTCCCTGTACCACAGGTTAAAAATCCCTGAAAAGGGGATTAACTCTTCAATTCAAAGCTAGATAGCAAATGTGTAAGTGTCTCA>G	4	100522542	100522630	GAATTCCCTGTACCACAGGTTAAAAATCCCTGAAAAGGGGATTAACTCTTCAATTCAAAGCTAGATAGCAAATGTGTAAGTGTCTCA	G	MTTP	c.1237-219_1237-134del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522545_100522630del	(Likely) benign	1 lab	6e976149b5
1:227071364 PSEN2 G>A	1	227071364	227071364	G	A	PSEN2	c.142-42G>A	NM_000447.3	NP_000438.2:p.?	NC_000001.10:g.227071364G>A	(Likely) benign	1 lab	6e98f14867
4:57796476 REST A>G	4	57796476	57796476	A	G	REST	c.1452A>G	NM_005612.5	NP_005603.3:p.(Ser484=)	NC_000004.11:g.57796476A>G	(Likely) benign	1 lab	6e9e107952
18:42643492 SETBP1 G>C	18	42643492	42643492	G	C	SETBP1	c.4620G>C	NM_015559.3	NP_056374.2:p.(Pro1540=)	NC_000018.9:g.42643492G>C	(Likely) benign	1 lab	6e9f826a7d
X:41333957 NYX C>T	X	41333957	41333957	C	T	NYX	c.1251C>T	NM_022567.2	NP_072089.1:p.(Leu417=)	NC_000023.10:g.41333957C>T	(Likely) benign	1 lab	6ea1e4439c
7:100642024 MUC12 CCA>C	7	100642024	100642028	CCA	C	MUC12	c.8183_8184del	NM_001164462.1	NP_001157934.1:p.(Thr2728SerfsTer13)	NC_000007.13:g.100642027_100642028del	(Likely) benign	1 lab	6ea4309184
15:80465396 FAH A>G	15	80465396	80465396	A	G	FAH	c.747A>G	NM_000137.4	NP_000128.1:p.(Pro249=)	NC_000015.9:g.80465396A>G	(Likely) benign	1 lab	6ea76f930a
1:74808740 FPGT-TNNI3K A>C	1	74808740	74808740	A	C	FPGT-TNNI3K	c.1131-19A>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.74808740A>C	(Likely) benign	1 lab	6ea84b9ca5
9:123732535 C5 T>C	9	123732535	123732535	T	C	C5	c.4099-6A>G	NM_001317163.2	NP_001304092.1:p.?	NC_000009.11:g.123732535T>C	VUS	1 lab	6ea8a9c716
15:34544468 SLC12A6 C>T	15	34544468	34544468	C	T	SLC12A6	c.1209G>A	NM_001042496.2	NP_001035961.1:p.(Ser403=)	NC_000015.9:g.34544468C>T	(Likely) benign	1 lab	6eaae99509
5:173515044 MISSING T>Alt too long to show for this DUP	5	173515044	173589563	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.173515045_173589563dup	VUS	1 lab	6eb05607a2
19:55377319 KIR3DL2 C>A	19	55377319	55377319	C	A	KIR3DL2	c.1060C>A	NM_006737.4	NP_006728.2:p.(Leu354Ile)	NC_000019.9:g.55377319C>A	(Likely) benign	1 lab	6eba0669ae
8:144295794 GPIHBP1 G>A	8	144295794	144295794	G	A	GPIHBP1	c.150G>A	NM_178172.6	NP_835466.2:p.(Glu50=)	NC_000008.10:g.144295794G>A	(Likely) benign	1 lab	6ebbf3b78c
7:27149909 HOXA3 G>C	7	27149909	27149909	G	C	HOXA3	c.351C>G	NM_153631.3	NP_705895.1:p.(Ala117=)	NC_000007.13:g.27149909G>C	(Likely) benign	1 lab	6ec46e96e8
1:54371889 DIO1 G>A	1	54371889	54371889	G	A	DIO1	c.603G>A	NM_000792.7	NP_000783.2:p.(Met201Ile)	NC_000001.10:g.54371889G>A	(Likely) benign	1 lab	6ec7c635b3
8:59409488 CYP7A1 G>A	8	59409488	59409488	G	A	CYP7A1	c.583C>T	NM_000780.4	NP_000771.2:p.(Arg195Trp)	NC_000008.10:g.59409488G>A	VUS	1 lab	6eca9fd684
2:27427328 SLC5A6 C>T	2	27427328	27427328	C	T	SLC5A6	c.1005+1G>A	NM_021095.4	NP_066918.2:p.?	NC_000002.11:g.27427328C>T	(Likely) pathogenic	1 lab	6ed47ff6bb
12:125292453 SCARB1 T>G	12	125292453	125292453	T	G	SCARB1	c.863A>C	NM_001367981.1	NP_001354910.1:p.(Lys288Thr)	NC_000012.11:g.125292453T>G	VUS	1 lab	6eda5ccc09
21:47404299 COL6A1 G>C	21	47404299	47404299	G	C	COL6A1	c.344G>C	NM_001848.3	NP_001839.2:p.(Ser115Thr)	NC_000021.8:g.47404299G>C	VUS	1 lab	6edc0c67b7
1:95000754 MISSING G>Alt too long to show for this DUP	1	95000754	95323325	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.95000755_95323325dup	VUS	1 lab	6edc9f62d3
2:44050069 ABCG5 C>T	2	44050069	44050069	C	T	ABCG5	c.1330G>A	NM_022436.3	NP_071881.1:p.(Val444Met)	NC_000002.11:g.44050069C>T	VUS	1 lab	6ee46dca26
10:100190337 HPS1 G>A	10	100190337	100190337	G	A	HPS1	c.759C>T	NM_000195.5	NP_000186.2:p.(Asp253=)	NC_000010.10:g.100190337G>A	(Likely) benign	1 lab	6ee89d3171
14:23282512 SLC7A7 C>T	14	23282512	23282512	C	T	SLC7A7	c.96G>A	NM_001126106.4	NP_001119578.1:p.(Lys32=)	NC_000014.8:g.23282512C>T	(Likely) benign	1 lab	6ee918b487
11:46723095 ZNF408 C>G	11	46723095	46723095	C	G	ZNF408	c.199C>G	NM_024741.3	NP_079017.1:p.(Leu67Val)	NC_000011.9:g.46723095C>G	(Likely) benign	1 lab	6ee9716cea
3:129155547 MBD4 C>CT	3	129155547	129155557	C	CT	MBD4	c.939dup	NM_003925.3	NP_003916.1:p.(Glu314ArgfsTer13)	NC_000003.11:g.129155557dup	(Likely) pathogenic	1 lab	6ef046c307
16:57005272 CETP G>A	16	57005272	57005272	G	A	CETP	c.637G>A	NM_000078.3	NP_000069.2:p.(Asp213Asn)	NC_000016.9:g.57005272G>A	(Likely) benign	1 lab	6ef3991a7b
11:84181438 DLG2 Ref too long to show for this DEL>C	11	84181438	84493877	Ref too long to show for this DEL	C	DLG2	c.358-248103_519+64174del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84181439_84493877del	(Likely) pathogenic	1 lab	6ef4fee861
7:150655330 KCNH2 GC>G	7	150655330	150655331	GC	G	KCNH2	c.732del	NM_000238.4	NP_000229.1:p.(Gly246AlafsTer114)	NC_000007.13:g.150655331del	(Likely) pathogenic	1 lab	6ef5212d57
10:69881788 MYPN GTTTC>G	10	69881788	69881793	GTTTC	G	MYPN	c.595_598del	NM_032578.4	NP_115967.2:p.(Phe199GlnfsTer25)	NC_000010.10:g.69881790_69881793del	(Likely) benign	1 lab	6ef56b4b63
1:1430900 ATAD3B T>C	1	1430900	1430900	T	C	ATAD3B	c.1512T>C	NM_001317238.2	NP_001304167.1:p.(Thr504=)	NC_000001.10:g.1430900T>C	(Likely) benign	1 lab	6ef8b6ca67
16:15850226 MYH11 T>A	16	15850226	15850226	T	A	MYH11	c.1742A>T	NM_001040113.2	NP_001035202.1:p.(Glu581Val)	NC_000016.9:g.15850226T>A	VUS	1 lab	6efad5e0a4
16:88499793 ZNF469 G>T	16	88499793	88499793	G	T	ZNF469	c.5915G>T	NM_001367624.2	NP_001354553.1:p.(Gly1972Val)	NC_000016.9:g.88499793G>T	(Likely) benign	1 lab	6efd700b58
2:179613728 TTN G>C	2	179613728	179613728	G	C	TTN	c.13399C>G	NM_133379.5	NP_596870.2:p.(His4467Asp)	NC_000002.11:g.179613728G>C	(Likely) benign	1 lab	6efec3ff26
9:79972721 VPS13A A>G	9	79972721	79972721	A	G	VPS13A	c.7920A>G	NM_033305.3	NP_150648.2:p.(Gln2640=)	NC_000009.11:g.79972721A>G	(Likely) benign	1 lab	6f02163ecf
7:5578121 MISSING Ref too long to show for this DEL>G	7	5578121	5743389	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.5578122_5743389del	(Likely) pathogenic	1 lab	6f04ad7f4a
9:135206511 SETX C>T	9	135206511	135206511	C	T	SETX	c.1026G>A	NM_015046.7	NP_055861.3:p.(Pro342=)	NC_000009.11:g.135206511C>T	(Likely) benign	1 lab	6f0897544c
11:2187275 TH G>A	11	2187275	2187275	G	A	TH	c.1154C>T	NM_199292.3	NP_954986.2:p.(Ala385Val)	NC_000011.9:g.2187275G>A	VUS	1 lab	6f0898bea5
9:137630303 COL5A1 T>C	9	137630303	137630303	T	C	COL5A1	c.1390-17T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630303T>C	(Likely) benign	1 lab	6f0a73386f
2:21255235 APOB G>A	2	21255235	21255235	G	A	APOB	c.1343C>T	NM_000384.3	NP_000375.3:p.(Ala448Val)	NC_000002.11:g.21255235G>A	(Likely) benign	1 lab	6f12a684e7
15:58833742 LIPC T>C	15	58833742	58833742	T	C	LIPC	c.274-242T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58833742T>C	(Likely) benign	1 lab	6f141a7db7
11:47372091 MYBPC3 G>A	11	47372091	47372091	G	A	MYBPC3	c.368C>T	NM_000256.3	NP_000247.2:p.(Pro123Leu)	NC_000011.9:g.47372091G>A	VUS	1 lab	6f142d4f6f
8:27987006 ELP3 A>T	8	27987006	27987006	A	T	ELP3	c.618-13A>T	NM_018091.6	NP_060561.3:p.?	NC_000008.10:g.27987006A>T	(Likely) benign	1 lab	6f14da5373
5:179260791 SQSTM1 A>G	5	179260791	179260791	A	G	SQSTM1	c.1165+9A>G	NM_003900.5	NP_003891.1:p.?	NC_000005.9:g.179260791A>G	(Likely) benign	1 lab	6f155da947
16:21821924 MISSING Ref too long to show for this DEL>A	16	21821924	22525534	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.21821925_22525534del	(Likely) pathogenic	1 lab	6f17959dc9
7:119811023 MISSING C>Alt too long to show for this DUP	7	119811023	119914266	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.119811025_119914266dup	VUS	1 lab	6f18ad26ef
7:151387195 PRKAG2 G>Alt too long to show for this DUP	7	151387195	151414409	G	Alt too long to show for this DUP	PRKAG2	c.467-41684_467-14473dup	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151387198_151414409dup	VUS	1 lab	6f1a77b2fa
1:19559422 EMC1 C>T	1	19559422	19559422	C	T	EMC1	c.1632+8G>A	NM_015047.3	NP_055862.1:p.?	NC_000001.10:g.19559422C>T	(Likely) benign	1 lab	6f69ea2d41
22:46859689 CELSR1 G>GAGGTCGATCTCCGTCTCGCAGTAGTC	22	46859689	46859715	G	GAGGTCGATCTCCGTCTCGCAGTAGTC	CELSR1	c.4072_4097dup	NM_001378328.1	NP_001365257.1:p.(Cys1367ThrfsTer62)	NC_000022.10:g.46859690_46859715dup	(Likely) pathogenic	1 lab	6f1b0b721a
19:11231043 LDLR C>G	19	11231043	11231043	C	G	LDLR	c.1988-3C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231043C>G	(Likely) pathogenic	1 lab	6f1bcdb263
2:21224913 APOB T>C	2	21224913	21224913	T	C	APOB	c.13381A>G	NM_000384.3	NP_000375.3:p.(Lys4461Glu)	NC_000002.11:g.21224913T>C	VUS	1 lab	6f1d9f9657
15:58838060 LIPC G>A	15	58838060	58838060	G	A	LIPC	c.694G>A	NM_000236.3	NP_000227.2:p.(Val232Met)	NC_000015.9:g.58838060G>A	VUS	1 lab	6f2109b658
19:11231284 LDLR C>G	19	11231284	11231284	C	G	LDLR	c.2140+86C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231284C>G	(Likely) pathogenic	1 lab	6f25de4e0a
1:156105918 LMNA C>G	1	156105918	156105918	C	G	LMNA	c.1157+6C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156105918C>G	(Likely) benign	1 lab	6f29e195d1
1:74833645 FPGT-TNNI3K A>C	1	74833645	74833645	A	C	FPGT-TNNI3K	c.1621A>C	NM_001112808.3	NP_001106279.3:p.(Lys541Gln)	NC_000001.10:g.74833645A>C	VUS	1 lab	6f2d76a3bc
18:47088826 LIPG C>T	18	47088826	47088826	C	T	LIPG	c.97+51C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47088826C>T	(Likely) benign	1 lab	6f3cb0961d
11:75508357 DGAT2 G>T	11	75508357	75508357	G	T	DGAT2	c.789G>T	NM_032564.5	NP_115953.2:p.(Val263=)	NC_000011.9:g.75508357G>T	(Likely) benign	1 lab	6f448df28d
X:153296202 MECP2 G>GAA	X	153296202	153296203	G	GAA	MECP2	c.1076_1077insTT	NM_004992.4	NP_004983.1:p.(Pro361HisfsTer49)	NC_000023.10:g.153296202_153296203insAA	(Likely) pathogenic	1 lab	6f44a08a28
3:12571420 TSEN2 GT>G	3	12571420	12571433	GT	G	TSEN2	c.1248+61del	NM_025265.4	NP_079541.1:p.?	NC_000003.11:g.12571433del	(Likely) benign	1 lab	6fc76d8f33
2:50932820 NRXN1 Ref too long to show for this DEL>C	2	50932820	51164931	Ref too long to show for this DEL	C	NRXN1	c.773-11838_833-82068del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50932821_51164931del	(Likely) pathogenic	1 lab	6f4964fe0a
12:76741303 BBS10 C>T	12	76741303	76741303	C	T	BBS10	c.462G>A	NM_024685.4	NP_078961.3:p.(Leu154=)	NC_000012.11:g.76741303C>T	(Likely) benign	1 lab	6f49baf614
2:21234088 APOB G>A	2	21234088	21234088	G	A	APOB	c.5652C>T	NM_000384.3	NP_000375.3:p.(Asn1884=)	NC_000002.11:g.21234088G>A	(Likely) benign	1 lab	6f538202f0
12:125348231 SCARB1 C>T	12	125348231	125348231	C	T	SCARB1	c.36G>A	NM_001367981.1	NP_001354910.1:p.(Gly12=)	NC_000012.11:g.125348231C>T	(Likely) benign	1 lab	6f56261ec3
2:21250223 APOB G>A	2	21250223	21250223	G	A	APOB	c.2068-387C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250223G>A	(Likely) benign	1 lab	6f635f54d9
6:43555149 POLH C>T	6	43555149	43555149	C	T	POLH	c.413C>T	NM_006502.3	NP_006493.1:p.(Ser138Leu)	NC_000006.11:g.43555149C>T	VUS	1 lab	6f64d1ff5a
2:179446419 TTN G>A	2	179446419	179446419	G	A	TTN	c.66576C>T	NM_001267550.2	NP_001254479.2:p.(Leu22192=)	NC_000002.11:g.179446419G>A	(Likely) benign	1 lab	6f67a6aebd
1:47882818 FOXE3 C>T	1	47882818	47882818	C	T	FOXE3	c.831C>T	NM_012186.3	NP_036318.1:p.(Gly277=)	NC_000001.10:g.47882818C>T	(Likely) benign	1 lab	6f6ecb21f6
16:14910203 MISSING Ref too long to show for this DEL>G	16	14910203	16525348	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.14910205_16525348del	(Likely) pathogenic	1 lab	6f70fd9ae9
11:95569333 MTMR2 C>T	11	95569333	95569333	C	T	MTMR2	c.1533G>A	NM_001243571.2	NP_001230500.1:p.(Trp511Ter)	NC_000011.9:g.95569333C>T	(Likely) pathogenic	1 lab	6f7111e84d
17:78184456 SGSH CGCGCCCGGT>C	17	78184456	78184465	CGCGCCCGGT	C	SGSH	c.1295_1303del	NM_000199.5	NP_000190.1:p.(Tyr432_Arg435delinsCys)	NC_000017.10:g.78184457_78184465del	(Likely) pathogenic	1 lab	6f756184d9
14:105173884 INF2 CACCCCT>C	14	105173884	105173890	CACCCCT	C	INF2	c.1281_1286del	NM_022489.4	NP_071934.3:p.(Pro428_Leu429del)	NC_000014.8:g.105173885_105173890del	(Likely) benign	1 lab	6f7671b95c
1:243449556 SDCCAG8 T>C	1	243449556	243449556	T	C	SDCCAG8	c.421-18T>C	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243449556T>C	(Likely) benign	1 lab	6f7e9210ec
7:150648773 KCNH2 C>A	7	150648773	150648773	C	A	KCNH2	c.1708G>T	NM_000238.4	NP_000229.1:p.(Ala570Ser)	NC_000007.13:g.150648773C>A	(Likely) pathogenic	1 lab	6f7ec59a3e
8:19809421 LPL G>T	8	19809421	19809421	G	T	LPL	c.391G>T	NM_000237.3	NP_000228.1:p.(Val131Leu)	NC_000008.10:g.19809421G>T	VUS	1 lab	6f812b37c6
2:85531367 TCF7L1 C>T	2	85531367	85531367	C	T	TCF7L1	c.762-11C>T	NM_031283.3	NP_112573.1:p.?	NC_000002.11:g.85531367C>T	(Likely) benign	1 lab	6f85e56f1f
3:170204159 SLC7A14 T>C	3	170204159	170204159	T	C	SLC7A14	c.760-2A>G	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170204159T>C	VUS	1 lab	6f8a126674
11:66332035 CTSF C>G	11	66332035	66332035	C	G	CTSF	c.1315G>C	NM_003793.4	NP_003784.2:p.(Gly439Arg)	NC_000011.9:g.66332035C>G	VUS	1 lab	6f8b2dc5f1
X:39934143 BCOR C>T	X	39934143	39934143	C	T	BCOR	c.456G>A	NM_001123385.2	NP_001116857.1:p.(Pro152=)	NC_000023.10:g.39934143C>T	(Likely) benign	1 lab	6f90f0f3d9
22:50894026 SBF1 G>A	22	50894026	50894026	G	A	SBF1	c.4267-15C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50894026G>A	(Likely) benign	1 lab	6f99c3ca54
1:180243465 LHX4 T>C	1	180243465	180243465	T	C	LHX4	c.924T>C	NM_033343.4	NP_203129.1:p.(Tyr308=)	NC_000001.10:g.180243465T>C	(Likely) benign	1 lab	6fa0254531
3:133119330 BFSP2 C>T	3	133119330	133119330	C	T	BFSP2	c.403C>T	NM_003571.4	NP_003562.1:p.(Gln135Ter)	NC_000003.11:g.133119330C>T	(Likely) pathogenic	1 lab	6fa4221a4a
9:75498242 MISSING Ref too long to show for this DEL>A	9	75498242	75514436	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.75498244_75514436del	VUS	1 lab	6faad63e08
11:47359959 MYBPC3 G>A	11	47359959	47359959	G	A	MYBPC3	c.2308+112C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359959G>A	(Likely) benign	1 lab	6fad70c984
6:16143354 MYLIP C>T	6	16143354	16143354	C	T	MYLIP	c.568C>T	NM_013262.4	NP_037394.2:p.(His190Tyr)	NC_000006.11:g.16143354C>T	VUS	1 lab	6fb2193bdc
18:10807167 PIEZO2 C>T	18	10807167	10807167	C	T	PIEZO2	c.1023G>A	NM_022068.4	NP_071351.2:p.(Leu341=)	NC_000018.9:g.10807167C>T	(Likely) benign	1 lab	6fb533d563
11:111897028 DLAT G>GTT	11	111897028	111897045	G	GTT	DLAT	c.381+21_381+22dup	NM_001931.5	NP_001922.2:p.?	NC_000011.9:g.111897044_111897045dup	(Likely) benign	1 lab	6fb7ee4433
6:42162472 GUCA1B C>T	6	42162472	42162472	C	T	GUCA1B	c.87G>A	NM_002098.6	NP_002089.4:p.(Val29=)	NC_000006.11:g.42162472C>T	(Likely) benign	1 lab	6fb839189b
5:125887767 ALDH7A1 C>T	5	125887767	125887767	C	T	ALDH7A1	c.1263G>A	NM_001182.5	NP_001173.2:p.(Ala421=)	NC_000005.9:g.125887767C>T	(Likely) benign	1 lab	6fb98b57ca
16:89838208 FANCA C>T	16	89838208	89838208	C	T	FANCA	c.2029G>A	NM_000135.4	NP_000126.2:p.(Val677Met)	NC_000016.9:g.89838208C>T	(Likely) benign	1 lab	6fba26d5b6
2:1652001 PXDN G>A	2	1652001	1652001	G	A	PXDN	c.3551C>T	NM_012293.3	NP_036425.1:p.(Thr1184Met)	NC_000002.11:g.1652001G>A	VUS	1 lab	6fbfcf5e64
2:21257927 APOB T>C	2	21257927	21257927	T	C	APOB	c.819-154A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257927T>C	(Likely) benign	1 lab	6fc585d087
2:179611605 TTN A>C	2	179611605	179611605	A	C	TTN	c.15522T>G	NM_133379.5	NP_596870.2:p.(Ile5174Met)	NC_000002.11:g.179611605A>C	(Likely) benign	1 lab	6fcc65180f
19:42912453 LIPE A>G	19	42912453	42912453	A	G	LIPE	c.1441T>C	NM_005357.4	NP_005348.2:p.(Phe481Leu)	NC_000019.9:g.42912453A>G	VUS	1 lab	6fd0744dfe
3:138220384 MISSING Ref too long to show for this DEL>A	3	138220384	139000960	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.138220385_139000960del	(Likely) pathogenic	1 lab	6fd345f1db
2:179594808 TTN T>C	2	179594808	179594808	T	C	TTN	c.18307+12A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179594808T>C	(Likely) benign	1 lab	6fd3cd9c7a
10:64573595 EGR2 A>T	10	64573595	64573595	A	T	EGR2	c.803T>A	NM_000399.5	NP_000390.2:p.(Ile268Asn)	NC_000010.10:g.64573595A>T	(Likely) pathogenic	1 lab	6fd652988f
2:179474169 TTN G>T	2	179474169	179474169	G	T	TTN	c.44164C>A	NM_133378.4	NP_596869.4:p.(Pro14722Thr)	NC_000002.11:g.179474169G>T	VUS	1 lab	6fd70718b4
2:44059139 ABCG5 C>A	2	44059139	44059139	C	A	ABCG5	c.349G>T	NM_022436.3	NP_071881.1:p.(Gly117Cys)	NC_000002.11:g.44059139C>A	VUS	1 lab	6fdc742ea4
2:220502903 SLC4A3 G>A	2	220502903	220502903	G	A	SLC4A3	c.2865G>A	NM_001326559.2	NP_001313488.2:p.(Gly955=)	NC_000002.11:g.220502903G>A	(Likely) benign	1 lab	6fe1baf045
9:98211525 PTCH1 C>T	9	98211525	98211525	C	T	PTCH1	c.3630G>A	NM_000264.5	NP_000255.2:p.(Pro1210=)	NC_000009.11:g.98211525C>T	(Likely) benign	1 lab	6fe4cab209
12:32975436 PKP2 C>A	12	32975436	32975436	C	A	PKP2	c.1936G>T	NM_004572.4	NP_004563.2:p.(Gly646Ter)	NC_000012.11:g.32975436C>A	(Likely) pathogenic	1 lab	6fe544c985
10:93938 TUBB8 C>T	10	93938	93938	C	T	TUBB8	c.394G>A	NM_177987.3	NP_817124.1:p.(Gly132Ser)	NC_000010.10:g.93938C>T	(Likely) pathogenic	1 lab	6fe9f36e0c
22:38693452 MISSING Ref too long to show for this DEL>C	22	38693452	38859980	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.38693453_38859980del	(Likely) pathogenic	1 lab	6ff6ca8efb
13:32900250 BRCA2 A>G	13	32900250	32900250	A	G	BRCA2	c.438A>G	NM_000059.4	NP_000050.3:p.(Leu146=)	NC_000013.10:g.32900250A>G	(Likely) benign	1 lab	6ff6fca5e3
9:107620864 ABCA1 TC>T	9	107620864	107620867	TC	T	ABCA1	c.658del	NM_005502.4	NP_005493.2:p.(Glu220ArgfsTer17)	NC_000009.11:g.107620867del	(Likely) pathogenic	1 lab	6ff9727075
4:100510550 MTTP G>A	4	100510550	100510550	G	A	MTTP	c.394-250G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510550G>A	(Likely) benign	1 lab	7005a5bd3e
9:35685501 TPM2 A>G	9	35685501	35685501	A	G	TPM2	c.422T>C	NM_001301227.2	NP_001288156.1:p.(Met141Thr)	NC_000009.11:g.35685501A>G	VUS	1 lab	700b97c9f5
15:34537617 SLC12A6 G>A	15	34537617	34537617	G	A	SLC12A6	c.1798-13C>T	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34537617G>A	(Likely) benign	1 lab	700e0e9a03
2:179418511 TTN T>C	2	179418511	179418511	T	C	TTN	c.89221A>G	NM_001267550.2	NP_001254479.2:p.(Ile29741Val)	NC_000002.11:g.179418511T>C	VUS	1 lab	7011083d3a
17:39913932 JUP G>A	17	39913932	39913932	G	A	JUP	c.1878C>T	NM_001352773.2	NP_001339702.1:p.(Ala626=)	NC_000017.10:g.39913932G>A	(Likely) benign	1 lab	7011e1c92f
11:47370479 MYBPC3 T>TATATATATATATATATATATATATATATATATATATA	11	47370479	47370480	T	TATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-388_655-387insTATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370479_47370480insATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	701205cdc3
X:47768270 MISSING G>Alt too long to show for this DUP	X	47768270	48224747	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47768272_48224747dup	VUS	1 lab	7014b02a40
15:89856189 FANCI G>A	15	89856189	89856189	G	A	FANCI	c.3706G>A	NM_001113378.2	NP_001106849.1:p.(Val1236Ile)	NC_000015.9:g.89856189G>A	(Likely) benign	1 lab	70169f20ad
8:144296896 GPIHBP1 C>T	8	144296896	144296896	C	T	GPIHBP1	c.190C>T	NM_178172.6	NP_835466.2:p.(Arg64Trp)	NC_000008.10:g.144296896C>T	(Likely) benign	1 lab	7019f6df84
1:161278207 MPZ G>A	1	161278207	161278207	G	A	MPZ	c.68-993C>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161278207G>A	(Likely) benign	1 lab	701f1d1c16
18:19198013 MISSING A>Alt too long to show for this DUP	18	19198013	19234450	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.19198014_19234450dup	VUS	1 lab	702361b7a9
6:7559465 DSP T>C	6	7559465	7559465	T	C	DSP	c.429T>C	NM_004415.4	NP_004406.2:p.(Leu143=)	NC_000006.11:g.7559465T>C	(Likely) benign	1 lab	7027cc15c2
2:21250793 APOB A>T	2	21250793	21250793	A	T	APOB	c.1974T>A	NM_000384.3	NP_000375.3:p.(Asn658Lys)	NC_000002.11:g.21250793A>T	(Likely) benign	1 lab	70292e1858
17:6377831 PITPNM3 A>G	17	6377831	6377831	A	G	PITPNM3	c.1179T>C	NM_031220.4	NP_112497.2:p.(Asp393=)	NC_000017.10:g.6377831A>G	(Likely) benign	1 lab	702bfae92e
2:111399218 BUB1 C>T	2	111399218	111399218	C	T	BUB1	c.2625+1G>A	NM_004336.5	NP_004327.1:p.?	NC_000002.11:g.111399218C>T	VUS	1 lab	702ec6ab18
14:81610701 TSHR A>G	14	81610701	81610701	A	G	TSHR	c.*4A>G	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81610701A>G	(Likely) benign	1 lab	7032810177
2:27303754 EMILIN1 C>T	2	27303754	27303754	C	T	EMILIN1	c.445C>T	NM_007046.4	NP_008977.1:p.(Arg149Trp)	NC_000002.11:g.27303754C>T	VUS	1 lab	70345d0585
18:44172011 LOXHD1 CAG>C	18	44172011	44172015	CAG	C	LOXHD1	c.1537_1538del	NM_001384474.1	NP_001371403.1:p.(Leu513GlufsTer17)	NC_000018.9:g.44172014_44172015del	(Likely) pathogenic	1 lab	7037fad1a6
18:29118948 DSG2 CT>C	18	29118948	29118951	CT	C	DSG2	c.1879+10del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29118951del	(Likely) benign	1 lab	7043acdedd
2:159322144 PKP4 T>Alt too long to show for this DUP	2	159322144	159421389	T	Alt too long to show for this DUP	PKP4	c.-6+8415_133-12394dup	NM_003628.6	NP_003619.2:p.?	NC_000002.11:g.159322145_159421389dup	VUS	1 lab	7044c6f97c
11:47356917 MYBPC3 C>T	11	47356917	47356917	C	T	MYBPC3	c.2738-157G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356917C>T	(Likely) benign	1 lab	704946247f
X:152710658 TREX2 G>A	X	152710658	152710658	G	A	TREX2	c.231C>T	NM_080701.4	NP_542432.2:p.(Ile77=)	NC_000023.10:g.152710658G>A	(Likely) benign	1 lab	704ee713ac
16:84324435 MISSING Ref too long to show for this DEL>A	16	84324435	84453655	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.84324436_84453655del	VUS	1 lab	7056976381
2:21239158 APOB C>CA	2	21239158	21239172	C	CA	APOB	c.3332+152dup	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239172dup	(Likely) benign	1 lab	70593d2379
16:3779103 CREBBP G>C	16	3779103	3779103	G	C	CREBBP	c.5945C>G	NM_004380.3	NP_004371.2:p.(Pro1982Arg)	NC_000016.9:g.3779103G>C	(Likely) benign	1 lab	705e1542d2
19:39062762 RYR1 G>A	19	39062762	39062762	G	A	RYR1	c.13850G>A	NM_000540.3	NP_000531.2:p.(Gly4617Glu)	NC_000019.9:g.39062762G>A	VUS	1 lab	705ededf75
7:138603140 KIAA1549 G>A	7	138603140	138603140	G	A	KIAA1549	c.1232C>T	NM_001164665.2	NP_001158137.1:p.(Pro411Leu)	NC_000007.13:g.138603140G>A	VUS	1 lab	70651b9819
20:21186160 KIZ G>A	20	21186160	21186160	G	A	KIZ	c.1383G>A	NM_018474.6	NP_060944.3:p.(Pro461=)	NC_000020.10:g.21186160G>A	(Likely) benign	1 lab	706959480c
11:47369662 MYBPC3 C>A	11	47369662	47369662	C	A	MYBPC3	c.773-206G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369662C>A	(Likely) benign	1 lab	706f1e6ebd
15:78449964 IDH3A T>C	15	78449964	78449964	T	C	IDH3A	c.165T>C	NM_005530.3	NP_005521.1:p.(Asp55=)	NC_000015.9:g.78449964T>C	(Likely) benign	1 lab	7071730197
5:86659147 CCNH A>AT	5	86659147	86659158	A	AT	CCNH	c.933+31713dup	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86659158dup	(Likely) benign	1 lab	7071825ba5
12:48380239 COL2A1 A>G	12	48380239	48380239	A	G	COL2A1	c.1420-13T>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48380239A>G	(Likely) benign	1 lab	707473f069
9:137694875 COL5A1 C>G	9	137694875	137694875	C	G	COL5A1	c.3114+34C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137694875C>G	(Likely) benign	1 lab	70749df47a
12:50500612 GPD1 A>G	12	50500612	50500612	A	G	GPD1	c.524A>G	NM_005276.4	NP_005267.2:p.(Gln175Arg)	NC_000012.11:g.50500612A>G	VUS	1 lab	7076e3486d
13:95157344 DCT T>G	13	95157344	95157344	T	G	DCT	c.-56-18A>C	NM_001322186.2	NP_001309115.1:p.?	NC_000013.10:g.95157344T>G	(Likely) benign	1 lab	7077c748f3
9:113259152 SVEP1 T>G	9	113259152	113259152	T	G	SVEP1	c.1743A>C	NM_153366.4	NP_699197.3:p.(Gln581His)	NC_000009.11:g.113259152T>G	(Likely) benign	1 lab	707c96eec5
8:87588240 CNGB3 TC>T	8	87588240	87588241	TC	T	CNGB3	c.2221del	NM_019098.5	NP_061971.3:p.(Asp741IlefsTer88)	NC_000008.10:g.87588241del	(Likely) pathogenic	1 lab	707e62c8b6
6:24300902 MISSING T>Alt too long to show for this DUP	6	24300902	24506272	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.24300903_24506272dup	VUS	1 lab	7081ae713e
7:30525369 MISSING Ref too long to show for this DEL>T	7	30525369	30549655	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.30525370_30549655del	VUS	1 lab	70821f4bfc
X:129273864 AIFM1 A>G	X	129273864	129273864	A	G	AIFM1	c.782-18T>C	NM_001130847.4	NP_001124319.1:p.?	NC_000023.10:g.129273864A>G	(Likely) benign	1 lab	708264be76
X:41203598 DDX3X C>A	X	41203598	41203598	C	A	DDX3X	c.971C>A	NM_001193416.3	NP_001180345.1:p.(Pro324Gln)	NC_000023.10:g.41203598C>A	(Likely) pathogenic	1 lab	7084bd1d7f
9:107593329 ABCA1 C>A	9	107593329	107593329	C	A	ABCA1	c.1769G>T	NM_005502.4	NP_005493.2:p.(Trp590Leu)	NC_000009.11:g.107593329C>A	(Likely) pathogenic	1 lab	7087098b1e
2:179442329 TTN C>A	2	179442329	179442329	C	A	TTN	c.68824G>T	NM_001267550.2	NP_001254479.2:p.(Glu22942Ter)	NC_000002.11:g.179442329C>A	(Likely) pathogenic	1 lab	7087654981
2:179572234 TTN AC>A	2	179572234	179572235	AC	A	TTN	c.29041+18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179572235del	(Likely) benign	1 lab	708e935a4c
2:179410557 TTN T>C	2	179410557	179410557	T	C	TTN	c.95406A>G	NM_001267550.2	NP_001254479.2:p.(Arg31802=)	NC_000002.11:g.179410557T>C	(Likely) benign	1 lab	709016fe79
4:119665254 SEC24D G>A	4	119665254	119665254	G	A	SEC24D	c.1884C>T	NM_014822.4	NP_055637.2:p.(His628=)	NC_000004.11:g.119665254G>A	(Likely) benign	1 lab	70920ff340
12:50499519 GPD1 TGTG>T	12	50499519	50499523	TGTG	T	GPD1	c.360+50_360+52del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50499521_50499523del	(Likely) benign	1 lab	709853fdc3
X:50337206 SHROOM4 G>Alt too long to show for this DUP	X	50337206	50439965	G	Alt too long to show for this DUP	SHROOM4	c.118-1027_*2488dup	NM_020717.5	NP_065768.2:p.?	NC_000023.10:g.50337208_50439965dup	(Likely) pathogenic	1 lab	7098ed1e95
16:53679590 RPGRIP1L A>G	16	53679590	53679590	A	G	RPGRIP1L	c.2630T>C	NM_001308334.3	NP_001295263.1:p.(Ile877Thr)	NC_000016.9:g.53679590A>G	VUS	1 lab	7099e8b5f2
16:1004611 LMF1 C>G	16	1004611	1004611	C	G	LMF1	c.249G>C	NM_022773.4	NP_073610.2:p.(Gly83=)	NC_000016.9:g.1004611C>G	(Likely) benign	1 lab	709af2617f
X:70444113 GJB1 G>T	X	70444113	70444113	G	T	GJB1	c.556G>T	NM_000166.6	NP_000157.1:p.(Glu186Ter)	NC_000023.10:g.70444113G>T	(Likely) pathogenic	1 lab	709d78f29f
1:103356071 COL11A1 AC>A	1	103356071	103356072	AC	A	COL11A1	c.4339-12del	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103356072del	(Likely) benign	1 lab	709dcf86f4
14:21679666 HNRNPC C>T	14	21679666	21679666	C	T	HNRNPC	c.736G>A	NM_031314.3	NP_112604.2:p.(Glu246Lys)	NC_000014.8:g.21679666C>T	(Likely) benign	1 lab	70a9d35c65
11:47367058 MYBPC3 C>T	11	47367058	47367058	C	T	MYBPC3	c.1090+700G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367058C>T	(Likely) benign	1 lab	70acc8919f
22:29099554 CHEK2 G>A	22	29099554	29099554	G	A	CHEK2	c.847C>T	NM_007194.4	NP_009125.1:p.(Pro283Ser)	NC_000022.10:g.29099554G>A	VUS	1 lab	70ad7759f5
5:58726185 PDE4D G>C	5	58726185	58726185	G	C	PDE4D	c.60C>G	NM_001349242.2	NP_001336171.1:p.(Ser20Arg)	NC_000005.9:g.58726185G>C	(Likely) benign	1 lab	70b3b245bf
15:65931990 SLC24A1 C>T	15	65931990	65931990	C	T	SLC24A1	c.2002C>T	NM_004727.3	NP_004718.1:p.(Arg668Cys)	NC_000015.9:g.65931990C>T	VUS	1 lab	70b7ae0073
2:179643586 TTN TA>T	2	179643586	179643587	TA	T	TTN	c.4208+14del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179643587del	(Likely) benign	1 lab	70b91f230c
2:44079486 ABCG8 C>A	2	44079486	44079486	C	A	ABCG8	c.562-7C>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079486C>A	VUS	1 lab	70c57aa9e3
7:22764904 MISSING A>Alt too long to show for this DUP	7	22764904	22788790	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.22764905_22788790dup	VUS	1 lab	70c987a3b4
3:52676065 PBRM1 C>A	3	52676065	52676065	C	A	PBRM1	c.996-4G>T	NM_018313.5	NP_060783.3:p.?	NC_000003.11:g.52676065C>A	(Likely) benign	1 lab	70d0a541cf
12:32729256 FGD4 C>A	12	32729256	32729256	C	A	FGD4	c.376C>A	NM_001370298.3	NP_001357227.2:p.(Pro126Thr)	NC_000012.11:g.32729256C>A	VUS	1 lab	70d2ae86fc
16:29656483 MISSING A>Alt too long to show for this DUP	16	29656483	30199507	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29656484_30199507dup	(Likely) pathogenic	1 lab	70d5a1cf0e
10:90986646 LIPA A>G	10	90986646	90986646	A	G	LIPA	c.538+6T>C	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90986646A>G	VUS	1 lab	70d7403d9a
6:34421776 MISSING G>Alt too long to show for this DUP	6	34421776	35015588	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.34421777_35015588dup	VUS	1 lab	70e04c07ac
1:245902624 MISSING T>Alt too long to show for this DUP	1	245902624	246321506	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.245902625_246321506dup	VUS	1 lab	70e09ba7e8
4:106367662 PPA2 A>G	4	106367662	106367662	A	G	PPA2	c.322-3T>C	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106367662A>G	(Likely) benign	1 lab	70e14f8de7
19:11226543 LDLR A>G	19	11226543	11226543	A	G	LDLR	c.1587-227A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226543A>G	(Likely) benign	1 lab	70e1d5e1c8
2:179465722 TTN G>A	2	179465722	179465722	G	A	TTN	c.55909C>T	NM_001267550.2	NP_001254479.2:p.(Arg18637Cys)	NC_000002.11:g.179465722G>A	VUS	1 lab	70e1edbf15
20:62664218 PRPF6 C>T	20	62664218	62664218	C	T	PRPF6	c.2698C>T	NM_012469.4	NP_036601.2:p.(Arg900Cys)	NC_000020.10:g.62664218C>T	VUS	1 lab	70e2fca641
4:100522478 MTTP CT>C	4	100522478	100522497	CT	C	MTTP	c.1237-267del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100522497del	(Likely) benign	1 lab	70e93b53b5
15:85360394 ALPK3 G>T	15	85360394	85360394	G	T	ALPK3				NC_000015.9:g.85360394G>T	VUS	1 lab	70eb5b4431
12:21919461 KCNJ8 C>T	12	21919461	21919461	C	T	KCNJ8	c.471G>A	NM_004982.4	NP_004973.1:p.(Thr157=)	NC_000012.11:g.21919461C>T	(Likely) benign	1 lab	70f6e9219b
22:51123092 SHANK3 C>T	22	51123092	51123092	C	T	SHANK3	c.1255+13C>T	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51123092C>T	(Likely) benign	1 lab	70fd3c8520
X:135288704 FHL1 A>G	X	135288704	135288704	A	G	FHL1	c.113A>G	NM_001159704.1	NP_001153176.1:p.(Asn38Ser)	NC_000023.10:g.135288704A>G	VUS	1 lab	70fddd0b69
3:57898928 SLMAP C>T	3	57898928	57898928	C	T	SLMAP	c.1962C>T	NM_007159.5	NP_009090.2:p.(Thr654=)	NC_000003.11:g.57898928C>T	(Likely) benign	1 lab	71000e70bd
3:97499541 ARL6 T>A	3	97499541	97499541	T	A	ARL6	c.254+14T>A	NM_032146.5	NP_115522.1:p.?	NC_000003.11:g.97499541T>A	(Likely) benign	1 lab	7101a4898f
11:22277009 ANO5 C>T	11	22277009	22277009	C	T	ANO5	c.1273C>T	NM_213599.3	NP_998764.1:p.(Gln425Ter)	NC_000011.9:g.22277009C>T	VUS	1 lab	7117c08ebe
3:38592147 SCN5A T>C	3	38592147	38592147	T	C	SCN5A	c.5716A>G	NM_198056.3	NP_932173.1:p.(Met1906Val)	NC_000003.11:g.38592147T>C	VUS	1 lab	7118a1caf2
2:74590404 DCTN1 C>T	2	74590404	74590404	C	T	DCTN1	c.3345+17G>A	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74590404C>T	(Likely) benign	1 lab	711e38d833
8:19811810 LPL C>T	8	19811810	19811810	C	T	LPL	c.721C>T	NM_000237.3	NP_000228.1:p.(Pro241Ser)	NC_000008.10:g.19811810C>T	(Likely) pathogenic	1 lab	711e7573b6
19:33167338 RGS9BP C>T	19	33167338	33167338	C	T	RGS9BP	c.169C>T	NM_207391.3	NP_997274.2:p.(Arg57Trp)	NC_000019.9:g.33167338C>T	VUS	1 lab	7120b3ebec
14:23898240 MYH7 T>C	14	23898240	23898240	T	C	MYH7	c.1331A>G	NM_000257.4	NP_000248.2:p.(Asn444Ser)	NC_000014.8:g.23898240T>C	(Likely) pathogenic	1 lab	712acf4cc3
14:76438314 TGFB3 C>G	14	76438314	76438314	C	G	TGFB3	c.353-253G>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76438314C>G	(Likely) benign	1 lab	712d1d6726
3:170216680 SLC7A14 A>G	3	170216680	170216680	A	G	SLC7A14	c.542-7T>C	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170216680A>G	(Likely) benign	1 lab	71340558ed
X:70443710 GJB1 C>A	X	70443710	70443710	C	A	GJB1	c.153C>A	NM_000166.6	NP_000157.1:p.(Phe51Leu)	NC_000023.10:g.70443710C>A	VUS	1 lab	713628aa22
2:179393712 TTN ACAATGGATTTTTCCAGGG>A	2	179393712	179393730	ACAATGGATTTTTCCAGGG	A	TTN	c.106748_106765del	NM_001267550.2	NP_001254479.2:p.(Ser35583_Val35589delinsPhe)	NC_000002.11:g.179393713_179393730del	VUS	1 lab	7145a04f6d
5:86669963 RASA1 TA>T	5	86669963	86669964	TA	T	RASA1	c.1777-16del	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86669964del	(Likely) benign	1 lab	7145abb2b8
2:166905397 SCN1A C>T	2	166905397	166905397	C	T	SCN1A	c.1027G>A	NM_001165963.4	NP_001159435.1:p.(Gly343Ser)	NC_000002.11:g.166905397C>T	VUS	1 lab	71478a69ea
15:48760670 FBN1 G>A	15	48760670	48760670	G	A	FBN1	c.4521C>T	NM_000138.5	NP_000129.3:p.(Gly1507=)	NC_000015.9:g.48760670G>A	VUS	1 lab	714e531d7e
2:179433160 TTN A>G	2	179433160	179433160	A	G	TTN	c.77699T>C	NM_001267550.2	NP_001254479.2:p.(Phe25900Ser)	NC_000002.11:g.179433160A>G	VUS	1 lab	7154317328
8:26606267 ADRA1A T>TA	8	26606267	26606287	T	TA	ADRA1A	c.1270-3dup	NM_033303.4	NP_150646.3:p.?	NC_000008.10:g.26606287dup	(Likely) benign	1 lab	7154e1ebc6
10:88459151 LDB3 C>T	10	88459151	88459151	C	T	LDB3	c.*20C>T	NM_001171611.2	NP_001165082.1:p.?	NC_000010.10:g.88459151C>T	(Likely) benign	1 lab	715a27a638
9:95482594 BICD2 C>T	9	95482594	95482594	C	T	BICD2	c.1050G>A	NM_001003800.2	NP_001003800.1:p.(Gln350=)	NC_000009.11:g.95482594C>T	(Likely) benign	1 lab	715b798152
1:55524339 PCSK9 CGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGT	C	PCSK9	c.1503+62_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524382_55524391del	(Likely) benign	1 lab	715d404e58
1:235611971 TBCE C>T	1	235611971	235611971	C	T	TBCE	c.1645-14C>T	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235611971C>T	(Likely) benign	1 lab	715d4efdd8
19:11224068 LDLR C>T	19	11224068	11224068	C	T	LDLR	c.1301C>T	NM_000527.5	NP_000518.1:p.(Thr434Met)	NC_000019.9:g.11224068C>T	VUS	1 lab	71612b2d1b
21:34503118 MISSING C>Alt too long to show for this DUP	21	34503118	35053316	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.34503119_35053316dup	VUS	1 lab	71617937ed
7:2729633 MISSING G>Alt too long to show for this DUP	7	2729633	3118836	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.2729635_3118836dup	VUS	1 lab	7163d9d78f
1:63063498 ANGPTL3 G>T	1	63063498	63063498	G	T	ANGPTL3	c.261G>T	NM_014495.4	NP_055310.1:p.(Leu87=)	NC_000001.10:g.63063498G>T	(Likely) benign	1 lab	7163db24af
1:177933354 SEC16B C>T	1	177933354	177933354	C	T	SEC16B	c.594G>A	NM_033127.4	NP_149118.2:p.(Pro198=)	NC_000001.10:g.177933354C>T	(Likely) benign	1 lab	7169b772ed
4:106359209 PPA2 T>A	4	106359209	106359209	T	A	PPA2	c.442-16A>T	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359209T>A	(Likely) benign	1 lab	716fc68ccd
19:11314748 DOCK6 C>T	19	11314748	11314748	C	T	DOCK6	c.5235+9G>A	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11314748C>T	(Likely) benign	1 lab	71703a91f1
12:124303707 DNAH10 G>A	12	124303707	124303707	G	A	DNAH10	c.3556G>A	NM_207437.3	NP_997320.2:p.(Glu1186Lys)	NC_000012.11:g.124303707G>A	(Likely) benign	1 lab	717427a9ae
12:50500015 GPD1 G>A	12	50500015	50500015	G	A	GPD1	c.361-56G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500015G>A	(Likely) benign	1 lab	7177ae8424
2:242683174 D2HGDH G>A	2	242683174	242683174	G	A	D2HGDH	c.628G>A	NM_152783.5	NP_689996.4:p.(Gly210Ser)	NC_000002.11:g.242683174G>A	(Likely) pathogenic	1 lab	7179f14f3c
X:140969411 MAGEC3 C>T	X	140969411	140969411	C	T	MAGEC3	c.738C>T	NM_138702.1	NP_619647.1:p.(Pro246=)	NC_000023.10:g.140969411C>T	(Likely) benign	1 lab	7187a465e3
20:62190650 HELZ2 G>A	20	62190650	62190650	G	A	HELZ2	c.7899C>T	NM_001037335.2	NP_001032412.2:p.(Leu2633=)	NC_000020.10:g.62190650G>A	(Likely) benign	1 lab	7188e818a5
20:25371130 ABHD12 G>C	20	25371130	25371130	G	C	ABHD12	c.191+19C>G	NM_001042472.3	NP_001035937.1:p.?	NC_000020.10:g.25371130G>C	(Likely) benign	1 lab	718f6ff29a
8:42841856 HOOK3 T>G	8	42841856	42841856	T	G	HOOK3	c.1450T>G	NM_032410.4	NP_115786.1:p.(Ser484Ala)	NC_000008.10:g.42841856T>G	(Likely) benign	1 lab	71913b2836
2:179534184 TTN T>C	2	179534184	179534184	T	C	TTN	c.35471-10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534184T>C	(Likely) benign	1 lab	7192e0e46e
19:11210957 LDLR C>CAAGT	19	11210957	11210961	C	CAAGT	LDLR	c.127_130dup	NM_000527.5	NP_000518.1:p.(Trp44Ter)	NC_000019.9:g.11210958_11210961dup	(Likely) pathogenic	1 lab	719645864b
9:107555467 ABCA1 A>C	9	107555467	107555467	A	C	ABCA1	c.5621T>G	NM_005502.4	NP_005493.2:p.(Phe1874Cys)	NC_000009.11:g.107555467A>C	VUS	1 lab	719848c18d
13:108863391 LIG4 C>A	13	108863391	108863391	C	A	LIG4	c.226G>T	NM_002312.3	NP_002303.2:p.(Glu76Ter)	NC_000013.10:g.108863391C>A	(Likely) pathogenic	1 lab	719c812380
2:166226763 SCN2A T>A	2	166226763	166226763	T	A	SCN2A	c.3803T>A	NM_021007.3	NP_066287.2:p.(Val1268Glu)	NC_000002.11:g.166226763T>A	(Likely) benign	1 lab	719d09fb74
8:43027474 HGSNAT C>T	8	43027474	43027474	C	T	HGSNAT	c.765C>T	NM_152419.3	NP_689632.2:p.(Val255=)	NC_000008.10:g.43027474C>T	(Likely) benign	1 lab	719f1c5eb6
6:43005469 CUL7 T>C	6	43005469	43005469	T	C	CUL7	c.5150A>G	NM_001168370.2	NP_001161842.2:p.(Tyr1717Cys)	NC_000006.11:g.43005469T>C	VUS	1 lab	719f3214e3
9:133760459 ABL1 C>T	9	133760459	133760459	C	T	ABL1	c.2782C>T	NM_005157.6	NP_005148.2:p.(Leu928=)	NC_000009.11:g.133760459C>T	(Likely) benign	1 lab	71abe5bbf7
6:56358810 DST T>C	6	56358810	56358810	T	C	DST	c.14035A>G	NM_001144769.5	NP_001138241.1:p.(Lys4679Glu)	NC_000006.11:g.56358810T>C	VUS	1 lab	71b0356639
1:25870201 LDLRAP1 C>T	1	25870201	25870201	C	T	LDLRAP1	c.12C>T	NM_015627.3	NP_056442.2:p.(Leu4=)	NC_000001.10:g.25870201C>T	(Likely) benign	1 lab	71b0a5824e
9:111659483 ELP1 T>G	9	111659483	111659483	T	G	ELP1	c.2446A>C	NM_003640.5	NP_003631.2:p.(Ile816Leu)	NC_000009.11:g.111659483T>G	(Likely) benign	1 lab	71b2035196
8:100904243 COX6C G>A	8	100904243	100904243	G	A	COX6C	c.7C>T	NM_004374.4	NP_004365.1:p.(Pro3Ser)	NC_000008.10:g.100904243G>A	(Likely) benign	1 lab	71b9a626e2
9:137704458 COL5A1 CG>C	9	137704458	137704461	CG	C	COL5A1	c.3755del	NM_000093.5	NP_000084.3:p.(Gly1252ValfsTer24)	NC_000009.11:g.137704461del	(Likely) pathogenic	1 lab	71c8b97ae3
4:44419478 MISSING T>Alt too long to show for this DUP	4	44419478	44638028	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.44419479_44638028dup	VUS	1 lab	71c9fa1560
7:4827331 AP5Z1 G>A	7	4827331	4827331	G	A	AP5Z1	c.1378G>A	NM_014855.3	NP_055670.1:p.(Ala460Thr)	NC_000007.13:g.4827331G>A	VUS	1 lab	71cd1b0092
19:55377302 KIR3DL2 T>C	19	55377302	55377302	T	C	KIR3DL2	c.1043T>C	NM_006737.4	NP_006728.2:p.(Val348Ala)	NC_000019.9:g.55377302T>C	(Likely) benign	1 lab	71d125e372
15:23890968 MAGEL2 G>T	15	23890968	23890968	G	T	MAGEL2	c.1922C>A	NM_019066.5	NP_061939.3:p.(Pro641His)	NC_000015.9:g.23890968G>T	VUS	1 lab	71d6786f6e
9:107651449 ABCA1 G>T	9	107651449	107651449	G	T	ABCA1	c.94C>A	NM_005502.4	NP_005493.2:p.(Pro32Thr)	NC_000009.11:g.107651449G>T	VUS	1 lab	71d7f69ca7
6:15533460 DTNBP1 C>G	6	15533460	15533460	C	G	DTNBP1	c.667+11G>C	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15533460C>G	(Likely) benign	1 lab	71d900da96
2:172557454 MISSING T>Alt too long to show for this DUP	2	172557454	173036839	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.172557457_173036839dup	VUS	1 lab	71dcdef193
19:45412300 APOE G>A	19	45412300	45412300	G	A	APOE	c.825G>A	NM_001302688.2	NP_001289617.1:p.(Glu275=)	NC_000019.9:g.45412300G>A	(Likely) benign	1 lab	71dfa15d8a
7:12547654 MISSING T>Alt too long to show for this DUP	7	12547654	12618666	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.12547656_12618666dup	VUS	1 lab	71e0d5ddce
2:179589228 TTN C>T	2	179589228	179589228	C	T	TTN	c.20874G>A	NM_001267550.2	NP_001254479.2:p.(Thr6958=)	NC_000002.11:g.179589228C>T	(Likely) benign	1 lab	71e23e9eb6
5:134084453 MISSING A>Alt too long to show for this DUP	5	134084453	134128458	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.134084456_134128458dup	VUS	1 lab	71e5dc707c
2:179457093 TTN G>A	2	179457093	179457093	G	A	TTN	c.59626+13C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179457093G>A	(Likely) benign	1 lab	71e73db2b7
2:179429976 TTN T>G	2	179429976	179429976	T	G	TTN	c.80883A>C	NM_001267550.2	NP_001254479.2:p.(Ala26961=)	NC_000002.11:g.179429976T>G	(Likely) benign	1 lab	71e8156abf
1:211832061 NEK2 C>CAAAAA	1	211832061	211832090	C	CAAAAA	NEK2	c.1112-12_1112-8dup	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832086_211832090dup	(Likely) benign	1 lab	71ed56dc3e
15:58837605 LIPC C>T	15	58837605	58837605	C	T	LIPC	c.575-336C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837605C>T	(Likely) benign	1 lab	71ef2d3891
3:45896464 LZTFL1 G>A	3	45896464	45896464	G	A	LZTFL1	c.-49+14C>T	NM_001276378.2	NP_001263307.1:p.?	NC_000003.11:g.45896464G>A	(Likely) benign	1 lab	71f09b5d60
1:55524214 PCSK9 G>A	1	55524214	55524214	G	A	PCSK9	c.1397G>A	NM_174936.4	NP_777596.2:p.(Gly466Glu)	NC_000001.10:g.55524214G>A	VUS	1 lab	71f10fbe2f
19:11227649 LDLR A>G	19	11227649	11227649	A	G	LDLR	c.1820A>G	NM_000527.5	NP_000518.1:p.(His607Arg)	NC_000019.9:g.11227649A>G	VUS	1 lab	71f2299c9b
22:38565262 PLA2G6 C>T	22	38565262	38565262	C	T	PLA2G6	c.172G>A	NM_003560.4	NP_003551.2:p.(Val58Ile)	NC_000022.10:g.38565262C>T	(Likely) benign	1 lab	71f45ee331
2:202626378 ALS2 G>A	2	202626378	202626378	G	A	ALS2	c.339C>T	NM_020919.4	NP_065970.2:p.(Tyr113=)	NC_000002.11:g.202626378G>A	(Likely) benign	1 lab	71f812e2ba
8:144998169 PLEC C>T	8	144998169	144998169	C	T	PLEC	c.6339G>A	NM_201380.4	NP_958782.1:p.(Ala2113=)	NC_000008.10:g.144998169C>T	(Likely) benign	1 lab	71fa206157
17:48269166 COL1A1 C>T	17	48269166	48269166	C	T	COL1A1	c.2110G>A	NM_000088.4	NP_000079.2:p.(Gly704Ser)	NC_000017.10:g.48269166C>T	(Likely) pathogenic	1 lab	71fa82fd46
2:27682564 IFT172 A>C	2	27682564	27682564	A	C	IFT172	c.2642+12T>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27682564A>C	(Likely) benign	1 lab	71fe0ca2d8
1:25880564 LDLRAP1 C>A	1	25880564	25880564	C	A	LDLRAP1	c.231+9C>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880564C>A	(Likely) benign	1 lab	7201a33a12
2:44099243 ABCG8 A>G	2	44099243	44099243	A	G	ABCG8	c.1093A>G	NM_022437.3	NP_071882.1:p.(Thr365Ala)	NC_000002.11:g.44099243A>G	VUS	1 lab	720491590c
10:95353604 RBP4 GCCTGGCCAGGCACAGCTCCT>G	10	95353604	95353628	GCCTGGCCAGGCACAGCTCCT	G	RBP4	c.524_543del	NM_006744.4	NP_006735.2:p.(Glu175AlafsTer27)	NC_000010.10:g.95353609_95353628del	(Likely) pathogenic	1 lab	72062aa161
17:41244008 BRCA1 G>A	17	41244008	41244008	G	A	BRCA1	c.3540C>T	NM_007294.4	NP_009225.1:p.(Ser1180=)	NC_000017.10:g.41244008G>A	(Likely) benign	1 lab	720924376e
11:67223140 CABP4 C>A	11	67223140	67223140	C	A	CABP4	c.246C>A	NM_145200.5	NP_660201.1:p.(Gly82=)	NC_000011.9:g.67223140C>A	(Likely) benign	1 lab	7211bab2b4
1:50458361 AGBL4 C>Alt too long to show for this DUP	1	50458361	50484417	C	Alt too long to show for this DUP	AGBL4	c.34+5018_34+31073dup	NM_032785.4	NP_116174.3:p.?	NC_000001.10:g.50458362_50484417dup	VUS	1 lab	7216a2be51
7:19156668 TWIST1 TGCC>T	7	19156668	19156683	TGCC	T	TWIST1	c.274_276del	NM_000474.4	NP_000465.1:p.(Gly92del)	NC_000007.13:g.19156681_19156683del	(Likely) benign	1 lab	7217e851bf
15:48760193 FBN1 G>C	15	48760193	48760193	G	C	FBN1	c.4689C>G	NM_000138.5	NP_000129.3:p.(Cys1563Trp)	NC_000015.9:g.48760193G>C	(Likely) pathogenic	1 lab	721ae8713d
8:62557164 ASPH T>C	8	62557164	62557164	T	C	ASPH	c.647A>G	NM_004318.4	NP_004309.2:p.(Glu216Gly)	NC_000008.10:g.62557164T>C	(Likely) benign	1 lab	721e27a353
7:56851529 MISSING Ref too long to show for this DEL>A	7	56851529	57557933	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.56851531_57557933del	VUS	1 lab	722238737a
4:126239015 FAT4 C>T	4	126239015	126239015	C	T	FAT4	c.1449C>T	NM_001291303.3	NP_001278232.1:p.(Asn483=)	NC_000004.11:g.126239015C>T	(Likely) benign	1 lab	72228c6799
11:47358040 MYBPC3 CAAAAA>C	11	47358040	47358064	CAAAAA	C	MYBPC3	c.2603-483_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358060_47358064del	(Likely) benign	1 lab	722a00f5f5
8:19813318 LPL C>T	8	19813318	19813318	C	T	LPL	c.776-34C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813318C>T	(Likely) benign	1 lab	722e152f0b
14:23859620 MYH6 G>A	14	23859620	23859620	G	A	MYH6	c.3378C>T	NM_002471.4	NP_002462.2:p.(Ala1126=)	NC_000014.8:g.23859620G>A	(Likely) benign	1 lab	722e7856c7
2:21239349 APOB G>A	2	21239349	21239349	G	A	APOB	c.3294C>T	NM_000384.3	NP_000375.3:p.(Asn1098=)	NC_000002.11:g.21239349G>A	(Likely) benign	1 lab	722f019a51
13:32910812 BRCA2 A>G	13	32910812	32910812	A	G	BRCA2	c.2320A>G	NM_000059.4	NP_000050.3:p.(Thr774Ala)	NC_000013.10:g.32910812A>G	(Likely) benign	1 lab	7230beb955
22:46930794 CELSR1 G>A	22	46930794	46930794	G	A	CELSR1	c.2274C>T	NM_001378328.1	NP_001365257.1:p.(Tyr758=)	NC_000022.10:g.46930794G>A	(Likely) benign	1 lab	723109a4c2
17:45232113 CDC27 A>G	17	45232113	45232113	A	G	CDC27	c.882T>C	NM_001114091.4	NP_001107563.1:p.(Asp294=)	NC_000017.10:g.45232113A>G	(Likely) benign	1 lab	723655b4f1
16:1004980 LMF1 G>A	16	1004980	1004980	G	A	LMF1	c.-361-314C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004980G>A	VUS	1 lab	72368f35c6
19:11215943 LDLR T>G	19	11215943	11215943	T	G	LDLR	c.361T>G	NM_000527.5	NP_000518.1:p.(Cys121Gly)	NC_000019.9:g.11215943T>G	(Likely) pathogenic	1 lab	7238636290
1:216501004 USH2A T>C	1	216501004	216501004	T	C	USH2A	c.785-8A>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216501004T>C	(Likely) benign	1 lab	7238fac16c
2:179583474 TTN G>A	2	179583474	179583474	G	A	TTN	c.24453C>T	NM_001267550.2	NP_001254479.2:p.(Leu8151=)	NC_000002.11:g.179583474G>A	(Likely) benign	1 lab	723fafdcf1
12:122247811 SETD1B C>A	12	122247811	122247811	C	A	SETD1B	c.960C>A	NM_001353345.2	NP_001340274.1:p.(Ala320=)	NC_000012.11:g.122247811C>A	(Likely) benign	1 lab	7242be7fd2
2:179574307 TTN G>A	2	179574307	179574307	G	A	TTN	c.28739C>T	NM_001267550.2	NP_001254479.2:p.(Ser9580Leu)	NC_000002.11:g.179574307G>A	VUS	1 lab	7244036de0
8:38913310 ADAM9 T>C	8	38913310	38913310	T	C	ADAM9	c.1591+19T>C	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38913310T>C	(Likely) benign	1 lab	72445e36b4
16:67805993 RANBP10 CA>C	16	67805993	67806013	CA	C	RANBP10	c.348-5del	NM_020850.3	NP_065901.1:p.?	NC_000016.9:g.67806013del	(Likely) benign	1 lab	724965e78b
12:106897961 POLR3B A>T	12	106897961	106897961	A	T	POLR3B	c.3201A>T	NM_018082.6	NP_060552.4:p.(Arg1067Ser)	NC_000012.11:g.106897961A>T	VUS	1 lab	7252f35335
9:137714282 COL5A1 C>G	9	137714282	137714282	C	G	COL5A1	c.4608+286C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137714282C>G	(Likely) benign	1 lab	7253cca1f7
X:153492772 OPN1MW2 C>T	X	153492772	153492772	C	T	OPN1MW2	c.521C>T	NM_001048181.2	NP_001041646.1:p.(Ala174Val)	NC_000023.10:g.153492772C>T	(Likely) benign	1 lab	7254cf82be
15:45457106 DUOX1 G>T	15	45457106	45457106	G	T	DUOX1	c.*7G>T	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45457106G>T	(Likely) benign	1 lab	725c0b2170
3:195512262 MUC4 C>G	3	195512262	195512262	C	G	MUC4	c.6189G>C	NM_018406.7	NP_060876.5:p.(Thr2063=)	NC_000003.11:g.195512262C>G	(Likely) benign	1 lab	725c6eebb9
19:35648391 FXYD5 G>A	19	35648391	35648391	G	A	FXYD5	c.129G>A	NM_144779.3	NP_659003.1:p.(Pro43=)	NC_000019.9:g.35648391G>A	(Likely) benign	1 lab	726036bc5c
2:21234034 APOB C>T	2	21234034	21234034	C	T	APOB	c.5706G>A	NM_000384.3	NP_000375.3:p.(Pro1902=)	NC_000002.11:g.21234034C>T	(Likely) benign	1 lab	72679a6171
12:124401172 DNAH10 G>A	12	124401172	124401172	G	A	DNAH10	c.10537G>A	NM_207437.3	NP_997320.2:p.(Asp3513Asn)	NC_000012.11:g.124401172G>A	(Likely) benign	1 lab	7268164c92
21:47536717 COL6A2 G>A	21	47536717	47536717	G	A	COL6A2	c.988G>A	NM_058175.3	NP_478055.2:p.(Asp330Asn)	NC_000021.8:g.47536717G>A	VUS	1 lab	726a0df5eb
12:125263243 SCARB1 C>T	12	125263243	125263243	C	T	SCARB1	c.1652-111G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125263243C>T	(Likely) benign	1 lab	726a2ef482
16:89617037 SPG7 G>A	16	89617037	89617037	G	A	SPG7	c.1779+20G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89617037G>A	(Likely) benign	1 lab	726bb81a2a
12:110566955 IFT81 T>C	12	110566955	110566955	T	C	IFT81	c.429+20T>C	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110566955T>C	(Likely) benign	1 lab	726bd1bfb1
20:14681862 MACROD2 Ref too long to show for this DEL>C	20	14681862	14875738	Ref too long to show for this DEL	C	MACROD2	c.418+16258_418+210133del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14681863_14875738del	(Likely) benign	1 lab	7271234e0e
1:50885012 DMRTA2 A>G	1	50885012	50885012	A	G	DMRTA2	c.954T>C	NM_032110.3	NP_115486.1:p.(Asp318=)	NC_000001.10:g.50885012A>G	(Likely) benign	1 lab	7273dff159
2:113148649 RGPD8 GAA>G	2	113148649	113148661	GAA	G	RGPD8	c.2603-5_2603-4del	NM_001164463.1	NP_001157935.1:p.?	NC_000002.11:g.113148660_113148661del	(Likely) benign	1 lab	7274ae955c
2:143281575 MISSING Ref too long to show for this DEL>G	2	143281575	143715296	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.143281580_143715296del	VUS	1 lab	72754eaff3
9:21818193 MTAP C>T	9	21818193	21818193	C	T	MTAP	c.339C>T	NM_002451.4	NP_002442.2:p.(Phe113=)	NC_000009.11:g.21818193C>T	(Likely) benign	1 lab	7277576314
4:367291 ZNF141 T>C	4	367291	367291	T	C	ZNF141	c.1065T>C	NM_003441.4	NP_003432.1:p.(Asn355=)	NC_000004.11:g.367291T>C	(Likely) benign	1 lab	72810a6f24
16:14024611 ERCC4 C>G	16	14024611	14024611	C	G	ERCC4	c.837C>G	NM_005236.3	NP_005227.1:p.(Ala279=)	NC_000016.9:g.14024611C>G	(Likely) benign	1 lab	7284b8cd70
6:109770000 MICAL1 C>T	6	109770000	109770000	C	T	MICAL1	c.1656G>A	NM_001286613.2	NP_001273542.1:p.(Leu552=)	NC_000006.11:g.109770000C>T	(Likely) benign	1 lab	7286bf75bf
1:210856631 KCNH1 C>A	1	210856631	210856631	C	A	KCNH1	c.2962G>T	NM_172362.3	NP_758872.1:p.(Ala988Ser)	NC_000001.10:g.210856631C>A	(Likely) benign	1 lab	72881010c2
7:91694614 AKAP9 G>A	7	91694614	91694614	G	A	AKAP9	c.6047G>A	NM_005751.5	NP_005742.4:p.(Arg2016His)	NC_000007.13:g.91694614G>A	VUS	1 lab	728d02b1d1
5:127624835 FBN2 A>G	5	127624835	127624835	A	G	FBN2	c.6621T>C	NM_001999.4	NP_001990.2:p.(Thr2207=)	NC_000005.9:g.127624835A>G	(Likely) benign	1 lab	728d6a39e7
5:127645061 FBN2 T>C	5	127645061	127645061	T	C	FBN2	c.5231A>G	NM_001999.4	NP_001990.2:p.(Tyr1744Cys)	NC_000005.9:g.127645061T>C	VUS	1 lab	7291aaa03f
2:179433280 TTN G>A	2	179433280	179433280	G	A	TTN	c.77579C>T	NM_001267550.2	NP_001254479.2:p.(Thr25860Ile)	NC_000002.11:g.179433280G>A	VUS	1 lab	7291f68b51
4:126370646 FAT4 G>A	4	126370646	126370646	G	A	FAT4	c.8481G>A	NM_001291303.3	NP_001278232.1:p.(Gly2827=)	NC_000004.11:g.126370646G>A	(Likely) benign	1 lab	72923af3ab
3:176767927 TBL1XR1 C>T	3	176767927	176767927	C	T	TBL1XR1	c.561-1G>A	NM_001321194.3	NP_001308123.1:p.?	NC_000003.11:g.176767927C>T	(Likely) pathogenic	1 lab	72938d832d
11:44228492 EXT2 C>T	11	44228492	44228492	C	T	EXT2	c.1744C>T	NM_000401.3	NP_000392.3:p.(Leu582=)	NC_000011.9:g.44228492C>T	(Likely) benign	1 lab	729405a1ec
2:71701548 DYSF T>Alt too long to show for this DUP	2	71701548	71748368	T	Alt too long to show for this DUP	DYSF	c.92-6463_1149+334dup	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71701550_71748368dup	VUS	1 lab	729472121f
15:58861013 LIPC G>A	15	58861013	58861013	G	A	LIPC	c.1487G>A	NM_000236.3	NP_000227.2:p.(Arg496Gln)	NC_000015.9:g.58861013G>A	(Likely) benign	1 lab	7295cc2e4e
2:236605907 AGAP1 C>Alt too long to show for this DUP	2	236605907	236689651	C	Alt too long to show for this DUP	AGAP1	c.164-11914_674-16752dup	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236605909_236689651dup	VUS	1 lab	7297713753
16:29591349 MISSING Ref too long to show for this DEL>T	16	29591349	30191848	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29591352_30191848del	(Likely) pathogenic	1 lab	7299ceee79
1:45297468 PTCH2 A>C	1	45297468	45297468	A	C	PTCH2	c.527T>G	NM_003738.5	NP_003729.3:p.(Met176Arg)	NC_000001.10:g.45297468A>C	VUS	1 lab	729a97fc8c
2:179404291 TTN T>G	2	179404291	179404291	T	G	TTN	c.90797A>C	NM_133378.4	NP_596869.4:p.(Glu30266Ala)	NC_000002.11:g.179404291T>G	VUS	1 lab	729bdc9dc8
15:40477843 BUB1B T>C	15	40477843	40477843	T	C	BUB1B	c.1058T>C	NM_001211.6	NP_001202.5:p.(Met353Thr)	NC_000015.9:g.40477843T>C	(Likely) benign	1 lab	72a7437521
11:95595485 MTMR2 C>T	11	95595485	95595485	C	T	MTMR2	c.92G>A	NM_001243571.2	NP_001230500.1:p.(Gly31Glu)	NC_000011.9:g.95595485C>T	(Likely) pathogenic	1 lab	72b7f3048b
11:76831869 CAPN5 C>T	11	76831869	76831869	C	T	CAPN5	c.1401C>T	NM_004055.5	NP_004046.2:p.(Arg467=)	NC_000011.9:g.76831869C>T	(Likely) benign	1 lab	72b9483131
3:129247728 RHO G>C	3	129247728	129247728	G	C	RHO	c.152G>C	NM_000539.3	NP_000530.1:p.(Gly51Ala)	NC_000003.11:g.129247728G>C	(Likely) benign	1 lab	72c11dc518
14:23898257 MYH7 C>G	14	23898257	23898257	C	G	MYH7	c.1314G>C	NM_000257.4	NP_000248.2:p.(Trp438Cys)	NC_000014.8:g.23898257C>G	(Likely) pathogenic	1 lab	72c67b451f
13:32912579 BRCA2 A>C	13	32912579	32912579	A	C	BRCA2	c.4087A>C	NM_000059.4	NP_000050.3:p.(Asn1363His)	NC_000013.10:g.32912579A>C	(Likely) benign	1 lab	72c870e98c
2:219647136 CYP27A1 T>C	2	219647136	219647136	T	C	CYP27A1	c.231T>C	NM_000784.4	NP_000775.1:p.(Tyr77=)	NC_000002.11:g.219647136T>C	(Likely) benign	1 lab	72ca6f4c29
9:107620596 ABCA1 G>A	9	107620596	107620596	G	A	ABCA1	c.720+207C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620596G>A	(Likely) benign	1 lab	72d3be81be
X:83290879 MISSING T>Alt too long to show for this DUP	X	83290879	83391887	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.83290880_83391887dup	VUS	1 lab	72d7a538dd
15:28234790 OCA2 A>T	15	28234790	28234790	A	T	OCA2	c.1139T>A	NM_000275.3	NP_000266.2:p.(Val380Glu)	NC_000015.9:g.28234790A>T	VUS	1 lab	72d883c6ac
1:201331529 TNNT2 C>T	1	201331529	201331529	C	T	TNNT2	c.571-7G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331529C>T	VUS	1 lab	72db009c2d
20:42788566 JPH2 G>A	20	42788566	42788566	G	A	JPH2	c.861C>T	NM_020433.5	NP_065166.2:p.(Thr287=)	NC_000020.10:g.42788566G>A	(Likely) benign	1 lab	72db2c2588
18:29104546 DSG2 G>A	18	29104546	29104546	G	A	DSG2	c.826G>A	NM_001943.5	NP_001934.2:p.(Val276Met)	NC_000018.9:g.29104546G>A	VUS	1 lab	72db4d4e2c
14:103275005 TRAF3 Ref too long to show for this DEL>T	14	103275005	103315550	Ref too long to show for this DEL	T	TRAF3	c.-156-21665_-18+18741del	NM_145725.3	NP_663777.1:p.?	NC_000014.8:g.103275006_103315550del	VUS	1 lab	72dbfa5d6e
5:112173943 APC A>G	5	112173943	112173943	A	G	APC	c.2652A>G	NM_000038.6	NP_000029.2:p.(Ala884=)	NC_000005.9:g.112173943A>G	(Likely) benign	1 lab	72ddae31d8
10:75277210 USP54 A>G	10	75277210	75277210	A	G	USP54	c.2974T>C	NM_152586.4	NP_689799.3:p.(Leu992=)	NC_000010.10:g.75277210A>G	(Likely) benign	1 lab	72ec9d50fb
1:237205957 RYR2 C>T	1	237205957	237205957	C	T	RYR2	c.48+88C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237205957C>T	(Likely) benign	1 lab	72edd4a340
7:138554526 KIAA1549 G>GA	7	138554526	138554527	G	GA	KIAA1549	c.4552-20dup	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138554527dup	(Likely) benign	1 lab	72ee56cbee
7:128490318 FLNC G>A	7	128490318	128490318	G	A	FLNC	c.5299-120G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490318G>A	(Likely) benign	1 lab	72f4dff36a
19:55377303 KIR3DL2 C>T	19	55377303	55377303	C	T	KIR3DL2	c.1044C>T	NM_006737.4	NP_006728.2:p.(Val348=)	NC_000019.9:g.55377303C>T	(Likely) benign	1 lab	72f7b4466f
5:148389855 SH3TC2 T>C	5	148389855	148389855	T	C	SH3TC2	c.3305A>G	NM_024577.4	NP_078853.2:p.(His1102Arg)	NC_000005.9:g.148389855T>C	VUS	1 lab	72f9306cbc
11:76915294 MYO7A C>T	11	76915294	76915294	C	T	MYO7A	c.5480+20C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76915294C>T	(Likely) benign	1 lab	72faa3a545
2:44051351 ABCG5 C>T	2	44051351	44051351	C	T	ABCG5	c.1118+7G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051351C>T	(Likely) benign	1 lab	72fff477ac
11:119103185 CBL C>G	11	119103185	119103185	C	G	CBL	c.223C>G	NM_005188.4	NP_005179.2:p.(Leu75Val)	NC_000011.9:g.119103185C>G	(Likely) benign	1 lab	7300f3faaa
X:70443798 GJB1 C>T	X	70443798	70443798	C	T	GJB1	c.241C>T	NM_000166.6	NP_000157.1:p.(Leu81Phe)	NC_000023.10:g.70443798C>T	(Likely) pathogenic	1 lab	7301049968
14:76147891 TTLL5 G>T	14	76147891	76147891	G	T	TTLL5	c.185G>T	NM_015072.5	NP_055887.3:p.(Arg62Leu)	NC_000014.8:g.76147891G>T	VUS	1 lab	730feb424d
10:81470370 NUTM2B G>A	10	81470370	81470370	G	A	NUTM2B	c.1584G>A	NM_001278495.2	NP_001265424.1:p.(Leu528=)	NC_000010.10:g.81470370G>A	(Likely) benign	1 lab	7310403941
4:44705370 MISSING C>Alt too long to show for this DUP	4	44705370	44749544	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.44705374_44749544dup	VUS	1 lab	73109e75f4
16:904703 LMF1 C>A	16	904703	904703	C	A	LMF1	c.1134G>T	NM_001352018.2	NP_001338947.1:p.(Trp378Cys)	NC_000016.9:g.904703C>A	VUS	1 lab	73137f9a56
10:68936711 CTNNA3 G>C	10	68936711	68936711	G	C	CTNNA3	c.1047+3364C>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68936711G>C	(Likely) benign	1 lab	7313ed7152
6:64940493 EYS C>T	6	64940493	64940493	C	T	EYS	c.6416G>A	NM_001292009.2	NP_001278938.1:p.(Cys2139Tyr)	NC_000006.11:g.64940493C>T	(Likely) pathogenic	1 lab	73159cbd2f
11:5729813 TRIM22 C>A	11	5729813	5729813	C	A	TRIM22	c.881C>A	NM_006074.5	NP_006065.2:p.(Thr294Lys)	NC_000011.9:g.5729813C>A	(Likely) benign	1 lab	73188a41d5
16:921257 LMF1 G>A	16	921257	921257	G	A	LMF1	c.583C>T	NM_001352018.2	NP_001338947.1:p.(Leu195=)	NC_000016.9:g.921257G>A	(Likely) benign	1 lab	731a7bd8d1
12:32996240 PKP2 T>C	12	32996240	32996240	T	C	PKP2	c.1386A>G	NM_004572.4	NP_004563.2:p.(Thr462=)	NC_000012.11:g.32996240T>C	(Likely) benign	1 lab	731d57d05f
15:85366563 ALPK3 T>G	15	85366563	85366563	T	G	ALPK3	c.146T>G	NM_020778.5	NP_065829.4:p.(Leu49Ter)	NC_000015.9:g.85366563T>G	(Likely) pathogenic	1 lab	731e31c275
12:124371674 DNAH10 G>T	12	124371674	124371674	G	T	DNAH10	c.8470-15G>T	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124371674G>T	(Likely) benign	1 lab	732001ad9b
20:23350984 GZF1 C>A	20	23350984	23350984	C	A	GZF1	c.2042C>A	NM_001317012.2	NP_001303941.1:p.(Thr681Asn)	NC_000020.10:g.23350984C>A	(Likely) benign	1 lab	732052e836
8:19816911 LPL G>T	8	19816911	19816911	G	T	LPL	c.1139+20G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816911G>T	(Likely) benign	1 lab	7321017005
1:55518042 PCSK9 C>T	1	55518042	55518042	C	T	PCSK9	c.615C>T	NM_174936.4	NP_777596.2:p.(Phe205=)	NC_000001.10:g.55518042C>T	(Likely) benign	1 lab	7323ea5de8
12:50501413 GPD1 G>A	12	50501413	50501413	G	A	GPD1	c.676G>A	NM_005276.4	NP_005267.2:p.(Ala226Thr)	NC_000012.11:g.50501413G>A	VUS	1 lab	7329ac560e
6:79726300 PHIP C>T	6	79726300	79726300	C	T	PHIP	c.1196G>A	NM_017934.7	NP_060404.4:p.(Trp399Ter)	NC_000006.11:g.79726300C>T	VUS	1 lab	732e9ba99b
15:71953045 THSD4 G>A	15	71953045	71953045	G	A	THSD4	c.1329G>A	NM_024817.2	NP_079093.2:p.(Thr443=)	NC_000015.9:g.71953045G>A	(Likely) benign	1 lab	732f49ae82
12:50499016 GPD1 A>G	12	50499016	50499016	A	G	GPD1	c.220-315A>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50499016A>G	(Likely) benign	1 lab	7331aadd15
10:88466466 LDB3 G>A	10	88466466	88466466	G	A	LDB3	c.1075G>A	NM_007078.3	NP_009009.1:p.(Asp359Asn)	NC_000010.10:g.88466466G>A	VUS	1 lab	7333dbc7cb
6:123595827 TRDN A>G	6	123595827	123595827	A	G	TRDN	c.1568-12T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123595827A>G	VUS	1 lab	73375b5549
13:95121261 DCT C>A	13	95121261	95121261	C	A	DCT	c.334G>T	NM_001129889.3	NP_001123361.1:p.(Gly112Cys)	NC_000013.10:g.95121261C>A	VUS	1 lab	73398b3b33
14:64604571 SYNE2 T>C	14	64604571	64604571	T	C	SYNE2	c.14713T>C	NM_182914.3	NP_878918.2:p.(Leu4905=)	NC_000014.8:g.64604571T>C	(Likely) benign	1 lab	7339b2bef0
16:732039 STUB1 T>C	16	732039	732039	T	C	STUB1	c.632T>C	NM_005861.4	NP_005852.2:p.(Met211Thr)	NC_000016.9:g.732039T>C	VUS	1 lab	733af53fdd
2:64210979 VPS54 CA>C	2	64210979	64210990	CA	C	VPS54	c.136+18del	NM_016516.3	NP_057600.2:p.?	NC_000002.11:g.64210990del	(Likely) benign	1 lab	733e34c87c
22:26879946 SRRD GGAGGCGGCGCCCCGGGGGAGA>G	22	26879946	26880005	GGAGGCGGCGCCCCGGGGGAGA	G	SRRD	c.129_149del	NM_001013694.3	NP_001013716.2:p.(Arg44_Gly50del)	NC_000022.10:g.26879985_26880005del	(Likely) benign	1 lab	733fcec949
10:13167496 OPTN A>G	10	13167496	13167496	A	G	OPTN	c.1077A>G	NM_001008211.1	NP_001008212.1:p.(Lys359=)	NC_000010.10:g.13167496A>G	(Likely) benign	1 lab	7344a6a398
8:55540635 RP1 C>G	8	55540635	55540635	C	G	RP1	c.4193C>G	NM_006269.2	NP_006260.1:p.(Ser1398Cys)	NC_000008.10:g.55540635C>G	(Likely) benign	1 lab	734c6b6ebe
12:117923463 KSR2 C>T	12	117923463	117923463	C	T	KSR2	c.2253G>A	NM_173598.6	NP_775869.4:p.(Val751=)	NC_000012.11:g.117923463C>T	(Likely) benign	1 lab	734e8d0d6e
X:91758824 MISSING Ref too long to show for this DEL>C	X	91758824	92312004	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.91758825_92312004del	VUS	1 lab	73526d422b
19:33953912 PEPD A>G	19	33953912	33953912	A	G	PEPD	c.660T>C	NM_000285.4	NP_000276.2:p.(Tyr220=)	NC_000019.9:g.33953912A>G	(Likely) benign	1 lab	75dc084a2a
5:37176096 CPLANE1 T>C	5	37176096	37176096	T	C	CPLANE1	c.5901-8A>G	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37176096T>C	(Likely) benign	1 lab	73560b83e2
5:176720807 NSD1 C>T	5	176720807	176720807	C	T	NSD1	c.6464-26C>T	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176720807C>T	(Likely) benign	1 lab	735da2a432
18:47113180 LIPG C>T	18	47113180	47113180	C	T	LIPG	c.1441C>T	NM_006033.4	NP_006024.1:p.(Arg481Cys)	NC_000018.9:g.47113180C>T	VUS	1 lab	73626e4016
3:135969417 PCCB C>T	3	135969417	135969417	C	T	PCCB	c.183+17C>T	NM_001178014.2	NP_001171485.1:p.?	NC_000003.11:g.135969417C>T	(Likely) benign	1 lab	7368ca5b9d
2:166848282 SCN1A G>A	2	166848282	166848282	G	A	SCN1A	c.5503C>T	NM_001165963.4	NP_001159435.1:p.(Leu1835Phe)	NC_000002.11:g.166848282G>A	(Likely) pathogenic	1 lab	7369616423
2:69472476 ANTXR1 G>A	2	69472476	69472476	G	A	ANTXR1	c.1554G>A	NM_032208.3	NP_115584.1:p.(Ala518=)	NC_000002.11:g.69472476G>A	(Likely) benign	1 lab	7370783afd
2:21233568 APOB C>T	2	21233568	21233568	C	T	APOB	c.6172G>A	NM_000384.3	NP_000375.3:p.(Val2058Ile)	NC_000002.11:g.21233568C>T	(Likely) benign	1 lab	73790522ba
15:48738992 FBN1 C>G	15	48738992	48738992	C	G	FBN1	c.5699G>C	NM_000138.5	NP_000129.3:p.(Cys1900Ser)	NC_000015.9:g.48738992C>G	(Likely) pathogenic	1 lab	7380a96e2e
18:6982565 LAMA1 C>T	18	6982565	6982565	C	T	LAMA1	c.5821G>A	NM_005559.4	NP_005550.2:p.(Gly1941Arg)	NC_000018.9:g.6982565C>T	VUS	1 lab	7381bc790c
17:67423696 MAP2K6 C>Alt too long to show for this DUP	17	67423696	67461592	C	Alt too long to show for this DUP	MAP2K6	c.16+12559_17-40329dup	NM_002758.4	NP_002749.2:p.?	NC_000017.10:g.67423700_67461592dup	VUS	1 lab	7386442949
16:979236 LMF1 C>T	16	979236	979236	C	T	LMF1	c.115+4755G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.979236C>T	(Likely) benign	1 lab	7387045002
12:57587039 LRP1 G>A	12	57587039	57587039	G	A	LRP1	c.7636G>A	NM_002332.3	NP_002323.2:p.(Gly2546Ser)	NC_000012.11:g.57587039G>A	(Likely) benign	1 lab	73898eb258
X:153608745 EMD C>A	X	153608745	153608745	C	A	EMD	c.399+18C>A	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608745C>A	(Likely) benign	1 lab	7391d5b767
6:10557132 GCNT2 A>G	6	10557132	10557132	A	G	GCNT2	c.476A>G	NM_001491.3	NP_001482.1:p.(Tyr159Cys)	NC_000006.11:g.10557132A>G	VUS	1 lab	73920f43b7
11:17491685 ABCC8 G>C	11	17491685	17491685	G	C	ABCC8	c.375C>G	NM_000352.6	NP_000343.2:p.(His125Gln)	NC_000011.9:g.17491685G>C	VUS	1 lab	7392accb5b
2:179594896 TTN G>A	2	179594896	179594896	G	A	TTN	c.18231C>T	NM_001267550.2	NP_001254479.2:p.(Thr6077=)	NC_000002.11:g.179594896G>A	(Likely) benign	1 lab	7395ff3e02
19:10023897 MISSING A>Alt too long to show for this DUP	19	10023897	10138380	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.10023898_10138380dup	VUS	1 lab	73a3b1f633
10:69925511 MYPN C>T	10	69925511	69925511	C	T	MYPN	c.1536C>T	NM_032578.4	NP_115967.2:p.(Cys512=)	NC_000010.10:g.69925511C>T	(Likely) benign	1 lab	73a558169c
18:45423118 SMAD2 T>C	18	45423118	45423118	T	C	SMAD2	c.10A>G	NM_001003652.4	NP_001003652.1:p.(Ile4Val)	NC_000018.9:g.45423118T>C	VUS	1 lab	73a579b534
11:108138091 ATM G>A	11	108138091	108138091	G	A	ATM	c.2638+22G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108138091G>A	VUS	1 lab	7673e79e09
15:45391885 DUOX2 G>A	15	45391885	45391885	G	A	DUOX2	c.3390C>T	NM_014080.5	NP_054799.4:p.(Ile1130=)	NC_000015.9:g.45391885G>A	(Likely) benign	1 lab	73ab2d28e3
7:128615897 TNPO3 C>A	7	128615897	128615897	C	A	TNPO3	c.2154G>T	NM_012470.4	NP_036602.1:p.(Arg718=)	NC_000007.13:g.128615897C>A	(Likely) benign	1 lab	73ad09d754
15:73615009 HCN4 T>C	15	73615009	73615009	T	C	HCN4	c.3425A>G	NM_005477.3	NP_005468.1:p.(Tyr1142Cys)	NC_000015.9:g.73615009T>C	VUS	1 lab	73ad9b015f
2:21237450 APOB G>T	2	21237450	21237450	G	T	APOB	c.3712C>A	NM_000384.3	NP_000375.3:p.(Leu1238Ile)	NC_000002.11:g.21237450G>T	VUS	1 lab	73b3f9a033
4:140258086 NAA15 ATGACT>A	4	140258086	140258094	ATGACT	A	NAA15	c.228_232del	NM_057175.5	NP_476516.1:p.(Asp76GlufsTer20)	NC_000004.11:g.140258090_140258094del	(Likely) pathogenic	1 lab	73b48e269e
1:156104246 LMNA G>A	1	156104246	156104246	G	A	LMNA	c.566G>A	NM_170707.4	NP_733821.1:p.(Arg189Gln)	NC_000001.10:g.156104246G>A	VUS	1 lab	73b6428692
12:43066807 MISSING Ref too long to show for this DEL>G	12	43066807	44972563	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.43066810_44972563del	(Likely) pathogenic	1 lab	73b8d69be8
11:47369778 MYBPC3 G>A	11	47369778	47369778	G	A	MYBPC3	c.772+197C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369778G>A	(Likely) benign	1 lab	73bbfd92a5
11:116701620 APOC3 C>T	11	116701620	116701620	C	T	APOC3	c.179+8C>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701620C>T	(Likely) benign	1 lab	73c6e6eea2
11:1016967 MUC6 G>C	11	1016967	1016967	G	C	MUC6	c.5834C>G	NM_005961.3	NP_005952.2:p.(Thr1945Arg)	NC_000011.9:g.1016967G>C	(Likely) benign	1 lab	73c790a91d
15:45399533 DUOX2 C>T	15	45399533	45399533	C	T	DUOX2	c.1693+10G>A	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45399533C>T	(Likely) benign	1 lab	73c79aff51
11:129785603 PRDM10 G>A	11	129785603	129785603	G	A	PRDM10	c.2490C>T	NM_020228.3	NP_064613.2:p.(Ala830=)	NC_000011.9:g.129785603G>A	(Likely) benign	1 lab	73c7fd63a6
6:79671539 PHIP A>C	6	79671539	79671539	A	C	PHIP	c.3536-12T>G	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79671539A>C	VUS	1 lab	73cb581832
19:10305592 DNMT1 G>C	19	10305592	10305592	G	C	DNMT1	c.-17C>G	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10305592G>C	(Likely) benign	1 lab	73cb8c07a6
21:47409559 COL6A1 G>A	21	47409559	47409559	G	A	COL6A1	c.896G>A	NM_001848.3	NP_001839.2:p.(Gly299Glu)	NC_000021.8:g.47409559G>A	(Likely) pathogenic	1 lab	73ce283f4f
19:12759184 MAN2B1 G>A	19	12759184	12759184	G	A	MAN2B1	c.2469C>T	NM_000528.4	NP_000519.2:p.(Arg823=)	NC_000019.9:g.12759184G>A	(Likely) benign	1 lab	73d005e40c
6:75884827 COL12A1 G>A	6	75884827	75884827	G	A	COL12A1	c.2637C>T	NM_004370.6	NP_004361.3:p.(Tyr879=)	NC_000006.11:g.75884827G>A	(Likely) benign	1 lab	73d078c277
11:47819650 MISSING A>Alt too long to show for this DUP	11	47819650	48142707	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.47819651_48142707dup	(Likely) pathogenic	1 lab	73d41b3f0b
8:17917209 ASAH1 A>G	8	17917209	17917209	A	G	ASAH1	c.837T>C	NM_004315.6	NP_004306.3:p.(Tyr279=)	NC_000008.10:g.17917209A>G	(Likely) benign	1 lab	73d6608fe0
1:221719896 MISSING Ref too long to show for this DEL>A	1	221719896	223250097	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.221719897_223250097del	VUS	1 lab	73d939c45e
13:49096543 RCBTB2 GA>G	13	49096543	49096553	GA	G	RCBTB2	c.-39-5del	NM_001286830.2	NP_001273759.1:p.?	NC_000013.10:g.49096553del	(Likely) benign	1 lab	73de0fd07a
11:46329485 CREB3L1 G>A	11	46329485	46329485	G	A	CREB3L1	c.450G>A	NM_052854.4	NP_443086.1:p.(Ala150=)	NC_000011.9:g.46329485G>A	(Likely) benign	1 lab	73e02b4efa
12:32996195 PKP2 G>T	12	32996195	32996195	G	T	PKP2	c.1431C>A	NM_004572.4	NP_004563.2:p.(His477Gln)	NC_000012.11:g.32996195G>T	VUS	1 lab	73e06985f7
12:125348176 SCARB1 T>C	12	125348176	125348176	T	C	SCARB1	c.91A>G	NM_005505.5	NP_005496.4:p.(Met31Val)	NC_000012.11:g.125348176T>C	(Likely) benign	1 lab	73e17787db
2:225815078 DOCK10 Ref too long to show for this DEL>A	2	225815078	225828363	Ref too long to show for this DEL	A	DOCK10	c.124-31978_124-18694del	NM_014689.3	NP_055504.2:p.?	NC_000002.11:g.225815079_225828363del	VUS	1 lab	73e7016d03
9:136419800 ADAMTSL2 G>A	9	136419800	136419800	G	A	ADAMTSL2	c.1261G>A	NM_001145320.2	NP_001138792.1:p.(Gly421Ser)	NC_000009.11:g.136419800G>A	(Likely) benign	1 lab	73ec8300c4
5:82818058 VCAN G>A	5	82818058	82818058	G	A	VCAN	c.3933G>A	NM_004385.5	NP_004376.2:p.(Gln1311=)	NC_000005.9:g.82818058G>A	(Likely) benign	1 lab	73ef4be68e
6:143075073 HIVEP2 G>C	6	143075073	143075073	G	C	HIVEP2	c.6517-5C>G	NM_006734.4	NP_006725.3:p.?	NC_000006.11:g.143075073G>C	VUS	1 lab	73efb46bce
4:42126512 MISSING A>Alt too long to show for this DUP	4	42126512	42681752	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.42126513_42681752dup	VUS	1 lab	73f29b7982
19:40902608 PRX C>T	19	40902608	40902608	C	T	PRX	c.1651G>A	NM_181882.3	NP_870998.2:p.(Val551Met)	NC_000019.9:g.40902608C>T	(Likely) benign	1 lab	73f5e0415b
17:15134308 PMP22 T>C	17	15134308	15134308	T	C	PMP22	c.409A>G	NM_000304.4	NP_000295.1:p.(Ile137Val)	NC_000017.10:g.15134308T>C	(Likely) benign	1 lab	73f5ee6792
15:45392014 DUOX2 C>T	15	45392014	45392014	C	T	DUOX2	c.3261G>A	NM_014080.5	NP_054799.4:p.(Ala1087=)	NC_000015.9:g.45392014C>T	(Likely) benign	1 lab	73fa73ee86
3:100948437 IMPG2 AAAAG>A	3	100948437	100948446	AAAAG	A	IMPG2	c.3423-7_3423-4del	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100948443_100948446del	(Likely) pathogenic	1 lab	73fb5e23bc
9:107568650 ABCA1 T>C	9	107568650	107568650	T	C	ABCA1	c.4336A>G	NM_005502.4	NP_005493.2:p.(Met1446Val)	NC_000009.11:g.107568650T>C	VUS	1 lab	7404825be9
9:107584806 ABCA1 G>A	9	107584806	107584806	G	A	ABCA1	c.2799C>T	NM_005502.4	NP_005493.2:p.(Gly933=)	NC_000009.11:g.107584806G>A	(Likely) benign	1 lab	7406b2df85
17:17698072 RAI1 C>T	17	17698072	17698072	C	T	RAI1	c.1810C>T	NM_030665.4	NP_109590.3:p.(Gln604Ter)	NC_000017.10:g.17698072C>T	VUS	1 lab	74095e86f6
9:135158790 SETX C>T	9	135158790	135158790	C	T	SETX	c.6407G>A	NM_015046.7	NP_055861.3:p.(Arg2136His)	NC_000009.11:g.135158790C>T	(Likely) pathogenic	1 lab	740b7d2675
6:73294697 MISSING A>Alt too long to show for this DUP	6	73294697	73520750	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.73294699_73520750dup	VUS	1 lab	740b884c75
14:102901204 TECPR2 C>G	14	102901204	102901204	C	G	TECPR2	c.2050C>G	NM_014844.5	NP_055659.2:p.(Leu684Val)	NC_000014.8:g.102901204C>G	(Likely) benign	1 lab	740c0190fb
8:55538447 RP1 G>A	8	55538447	55538447	G	A	RP1	c.2005G>A	NM_006269.2	NP_006260.1:p.(Ala669Thr)	NC_000008.10:g.55538447G>A	VUS	1 lab	740e0ab490
5:178634503 ADAMTS2 A>C	5	178634503	178634503	A	C	ADAMTS2	c.891+11T>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634503A>C	(Likely) benign	1 lab	74141c130f
14:23884363 MYH7 G>A	14	23884363	23884363	G	A	MYH7	c.5400C>T	NM_000257.4	NP_000248.2:p.(Ala1800=)	NC_000014.8:g.23884363G>A	(Likely) benign	1 lab	741484e8e6
11:10014538 SBF2 T>C	11	10014538	10014538	T	C	SBF2	c.1166A>G	NM_030962.4	NP_112224.1:p.(Lys389Arg)	NC_000011.9:g.10014538T>C	VUS	1 lab	741b1a442d
9:107651327 ABCA1 T>C	9	107651327	107651327	T	C	ABCA1	c.160+56A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107651327T>C	(Likely) benign	1 lab	741efbb484
17:38240216 THRA C>T	17	38240216	38240216	C	T	THRA	c.351C>T	NM_003250.6	NP_003241.2:p.(Ala117=)	NC_000017.10:g.38240216C>T	(Likely) benign	1 lab	7425e5da71
X:74510202 MISSING A>Alt too long to show for this DUP	X	74510202	74602263	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.74510203_74602263dup	VUS	1 lab	742866bce1
19:45409920 APOE G>A	19	45409920	45409920	G	A	APOE	c.117G>A	NM_001302688.2	NP_001289617.1:p.(Leu39=)	NC_000019.9:g.45409920G>A	VUS	1 lab	742d192004
5:179251205 SQSTM1 C>G	5	179251205	179251205	C	G	SQSTM1	c.555C>G	NM_003900.5	NP_003891.1:p.(Leu185=)	NC_000005.9:g.179251205C>G	(Likely) benign	1 lab	742db85840
9:136433527 ADAMTSL2 C>T	9	136433527	136433527	C	T	ADAMTSL2	c.2007C>T	NM_001145320.2	NP_001138792.1:p.(Ala669=)	NC_000009.11:g.136433527C>T	(Likely) benign	1 lab	742ddc2018
12:125302272 SCARB1 G>A	12	125302272	125302272	G	A	SCARB1	c.127-19C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125302272G>A	(Likely) benign	1 lab	742e099b1e
5:138261114 CTNNA1 A>G	5	138261114	138261114	A	G	CTNNA1	c.1899+18A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138261114A>G	(Likely) benign	1 lab	7431498abd
10:28884794 WAC AC>A	10	28884794	28884798	AC	A	WAC	c.747del	NM_016628.5	NP_057712.2:p.(Ile250SerfsTer81)	NC_000010.10:g.28884798del	(Likely) pathogenic	1 lab	7434f20549
8:134276860 NDRG1 G>A	8	134276860	134276860	G	A	NDRG1	c.135C>T	NM_001135242.2	NP_001128714.1:p.(His45=)	NC_000008.10:g.134276860G>A	(Likely) benign	1 lab	74350d3cf8
15:67457913 SMAD3 C>G	15	67457913	67457913	C	G	SMAD3	c.532+191C>G	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457913C>G	(Likely) benign	1 lab	74378242c3
2:58449134 FANCL G>A	2	58449134	58449134	G	A	FANCL	c.317C>T	NM_001114636.1	NP_001108108.1:p.(Pro106Leu)	NC_000002.11:g.58449134G>A	(Likely) benign	1 lab	748d4a750b
9:6933755 KDM4C Ref too long to show for this DEL>A	9	6933755	6990966	Ref too long to show for this DEL	A	KDM4C	c.921+40524_1786+442del	NM_015061.6	NP_055876.2:p.?	NC_000009.11:g.6933756_6990966del	VUS	1 lab	7438572594
1:104076495 RNPC3 A>G	1	104076495	104076495	A	G	RNPC3	c.359+16A>G	NM_017619.4	NP_060089.1:p.?	NC_000001.10:g.104076495A>G	(Likely) benign	1 lab	743b7cb4e4
12:88505564 CEP290 A>AAGCTG	12	88505564	88505570	A	AAGCTG	CEP290	c.2119_2123dup	NM_025114.4	NP_079390.3:p.(Thr709SerfsTer9)	NC_000012.11:g.88505566_88505570dup	(Likely) pathogenic	1 lab	743b9ea0df
6:16129637 MYLIP C>T	6	16129637	16129637	C	T	MYLIP	c.84C>T	NM_013262.4	NP_037394.2:p.(Asn28=)	NC_000006.11:g.16129637C>T	(Likely) benign	1 lab	744481af09
1:237811927 RYR2 G>T	1	237811927	237811927	G	T	RYR2	c.7512+14G>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237811927G>T	(Likely) benign	1 lab	744514a795
11:1016959 MUC6 T>C	11	1016959	1016959	T	C	MUC6	c.5842A>G	NM_005961.3	NP_005952.2:p.(Arg1948Gly)	NC_000011.9:g.1016959T>C	(Likely) benign	1 lab	7447daf424
2:202592502 ALS2 A>G	2	202592502	202592502	A	G	ALS2	c.2842-4T>C	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202592502A>G	(Likely) benign	1 lab	7449ce63de
12:102023185 MYBPC1 ATCCTTTTCC>A	12	102023185	102023200	ATCCTTTTCC	A	MYBPC1	c.179-20_179-12del	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102023192_102023200del	(Likely) benign	1 lab	744cfbbba8
19:53209030 ZNF611 A>G	19	53209030	53209030	A	G	ZNF611	c.1278T>C	NM_030972.3	NP_112234.3:p.(Tyr426=)	NC_000019.9:g.53209030A>G	(Likely) benign	1 lab	74506534e8
1:210857138 KCNH1 A>T	1	210857138	210857138	A	T	KCNH1	c.2455T>A	NM_172362.3	NP_758872.1:p.(Ser819Thr)	NC_000001.10:g.210857138A>T	(Likely) benign	1 lab	7450d9a06f
15:89864193 POLG T>G	15	89864193	89864193	T	G	POLG	c.2785A>C	NM_001126131.2	NP_001119603.1:p.(Thr929Pro)	NC_000015.9:g.89864193T>G	(Likely) pathogenic	1 lab	7454a2a114
17:78596039 RPTOR C>Alt too long to show for this DUP	17	78596039	78614326	C	Alt too long to show for this DUP	RPTOR	c.163-3451_266-3202dup	NM_020761.3	NP_065812.1:p.?	NC_000017.10:g.78596040_78614326dup	VUS	1 lab	7456bd1640
9:79959197 VPS13A G>A	9	79959197	79959197	G	A	VPS13A	c.7155G>A	NM_033305.3	NP_150648.2:p.(Glu2385=)	NC_000009.11:g.79959197G>A	(Likely) benign	1 lab	7457968a0b
14:89337876 TTC8 T>C	14	89337876	89337876	T	C	TTC8	c.456-17T>C	NM_001288782.1	NP_001275711.1:p.?	NC_000014.8:g.89337876T>C	(Likely) benign	1 lab	745a410d5e
19:11210974 LDLR G>A	19	11210974	11210974	G	A	LDLR	c.143G>A	NM_000527.5	NP_000518.1:p.(Gly48Asp)	NC_000019.9:g.11210974G>A	VUS	1 lab	748f5fd866
5:180057249 FLT4 G>A	5	180057249	180057249	G	A	FLT4	c.489C>T	NM_182925.5	NP_891555.2:p.(Pro163=)	NC_000005.9:g.180057249G>A	(Likely) benign	1 lab	745f2b0b08
X:152813343 ATP2B3 G>A	X	152813343	152813343	G	A	ATP2B3	c.1009G>A	NM_001001344.2	NP_001001344.1:p.(Ala337Thr)	NC_000023.10:g.152813343G>A	VUS	1 lab	7461ff810b
9:107620985 ABCA1 A>G	9	107620985	107620985	A	G	ABCA1	c.544-6T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620985A>G	(Likely) benign	1 lab	7464c31ead
12:2595439 CACNA1C CAGGCG>C	12	2595439	2595444	CAGGCG	C	CACNA1C	c.916+12_916+16del	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2595440_2595444del	(Likely) benign	1 lab	74665175ef
2:44994044 MISSING Ref too long to show for this DEL>A	2	44994044	45022569	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.44994045_45022569del	VUS	1 lab	7467ce3ca6
2:179460304 TTN C>A	2	179460304	179460304	C	A	TTN	c.57777G>T	NM_001267550.2	NP_001254479.2:p.(Ala19259=)	NC_000002.11:g.179460304C>A	(Likely) benign	1 lab	746dd7c05a
4:259128 MISSING T>Alt too long to show for this DUP	4	259128	499729	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.259129_499729dup	(Likely) pathogenic	1 lab	74723fc37f
15:44905680 SPG11 G>C	15	44905680	44905680	G	C	SPG11	c.3093C>G	NM_025137.4	NP_079413.3:p.(His1031Gln)	NC_000015.9:g.44905680G>C	(Likely) benign	1 lab	748324d388
12:6953157 GNB3 C>A	12	6953157	6953157	C	A	GNB3	c.699+15C>A	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6953157C>A	(Likely) benign	1 lab	748384cb40
6:49415448 MMUT C>T	6	49415448	49415448	C	T	MMUT	c.1495G>A	NM_000255.4	NP_000246.2:p.(Ala499Thr)	NC_000006.11:g.49415448C>T	(Likely) benign	1 lab	7483fa1ef2
20:13074237 SPTLC3 G>T	20	13074237	13074237	G	T	SPTLC3	c.826+13G>T	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13074237G>T	(Likely) benign	1 lab	748461b1ef
6:163925952 QKI Ref too long to show for this DEL>T	6	163925952	163942107	Ref too long to show for this DEL	T	QKI	c.402+26027_403-13907del	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163925955_163942107del	VUS	1 lab	748921b9e1
10:90986662 LIPA G>A	10	90986662	90986662	G	A	LIPA	c.528C>T	NM_000235.4	NP_000226.2:p.(Gly176=)	NC_000010.10:g.90986662G>A	VUS	1 lab	748baa1dca
3:48620045 COL7A1 A>T	3	48620045	48620045	A	T	COL7A1	c.4560T>A	NM_000094.4	NP_000085.1:p.(Pro1520=)	NC_000003.11:g.48620045A>T	(Likely) benign	1 lab	74908a4ed8
16:1020964 LMF1 G>C	16	1020964	1020964	G	C	LMF1	c.17C>G	NM_022773.4	NP_073610.2:p.(Pro6Arg)	NC_000016.9:g.1020964G>C	VUS	1 lab	7493ec4a0b
1:3102906 PRDM16 GCTCCGAGAGTC>G	1	3102906	3102921	GCTCCGAGAGTC	G	PRDM16	c.260_270del	NM_022114.4	NP_071397.3:p.(Arg87HisfsTer64)	NC_000001.10:g.3102911_3102921del	(Likely) pathogenic	1 lab	749f7db01a
8:1900903 ARHGEF10 G>A	8	1900903	1900903	G	A	ARHGEF10	c.3430G>A	NM_014629.4	NP_055444.2:p.(Val1144Ile)	NC_000008.10:g.1900903G>A	VUS	1 lab	74a0549068
2:73675931 ALMS1 A>G	2	73675931	73675931	A	G	ALMS1	c.2280A>G	NM_015120.4	NP_055935.4:p.(Val760=)	NC_000002.11:g.73675931A>G	(Likely) benign	1 lab	74a48ff5fe
2:21233721 APOB C>T	2	21233721	21233721	C	T	APOB	c.6019G>A	NM_000384.3	NP_000375.3:p.(Val2007Met)	NC_000002.11:g.21233721C>T	VUS	1 lab	74a7412894
1:74819807 TNNI3K G>T	1	74819807	74819807	G	T	TNNI3K	c.1171G>T	NM_015978.3	NP_057062.1:p.(Glu391Ter)	NC_000001.10:g.74819807G>T	VUS	1 lab	74a848a447
20:62616386 PRPF6 A>C	20	62616386	62616386	A	C	PRPF6	c.359+8A>C	NM_012469.4	NP_036601.2:p.?	NC_000020.10:g.62616386A>C	(Likely) benign	1 lab	74a8577fd3
6:157100205 ARID1B G>GC	6	157100205	157100209	G	GC	ARID1B	c.1395dup	NM_001371656.1	NP_001358585.1:p.(Gly466ArgfsTer152)	NC_000006.11:g.157100209dup	(Likely) pathogenic	1 lab	74ae6b95a9
14:31731997 MISSING T>Alt too long to show for this DUP	14	31731997	31764888	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.31731999_31764888dup	VUS	1 lab	74b1377c82
10:90988410 LIPA A>T	10	90988410	90988410	A	T	LIPA	c.230-255T>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90988410A>T	(Likely) benign	1 lab	74b5eddab9
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAAAA	SAR1B	c.244+32_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948354_133948371dup	(Likely) benign	1 lab	74c09f86ab
4:114158317 ANK2 G>A	4	114158317	114158317	G	A	ANK2	c.658G>A	NM_001148.6	NP_001139.3:p.(Val220Ile)	NC_000004.11:g.114158317G>A	VUS	1 lab	74c47c7178
2:179398570 TTN G>T	2	179398570	179398570	G	T	TTN	c.102772C>A	NM_001267550.2	NP_001254479.2:p.(Pro34258Thr)	NC_000002.11:g.179398570G>T	VUS	1 lab	74c61f3cf0
6:39847082 DAAM2 A>C	6	39847082	39847082	A	C	DAAM2	c.1674A>C	NM_015345.4	NP_056160.2:p.(Pro558=)	NC_000006.11:g.39847082A>C	(Likely) benign	1 lab	74c705ac0c
1:236924254 ACTN2 A>G	1	236924254	236924254	A	G	ACTN2	c.2368-61A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924254A>G	(Likely) benign	1 lab	74cc47d9bf
2:21227132 APOB G>A	2	21227132	21227132	G	A	APOB	c.12087+9C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227132G>A	(Likely) benign	1 lab	74cf68bc91
19:39055784 RYR1 GGGCGCGGAA>G	19	39055784	39055801	GGGCGCGGAA	G	RYR1	c.12819_12827del	NM_000540.3	NP_000531.2:p.(Gly4274_Glu4276del)	NC_000019.9:g.39055793_39055801del	VUS	1 lab	74d205bbd1
1:150530505 ADAMTSL4 TG>T	1	150530505	150530513	TG	T	ADAMTSL4	c.2270del	NM_019032.6	NP_061905.2:p.(Gly757ValfsTer62)	NC_000001.10:g.150530513del	(Likely) pathogenic	1 lab	74d33c5b48
2:48023013 MSH6 A>C	2	48023013	48023013	A	C	MSH6	c.458-20A>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48023013A>C	VUS	1 lab	74d42c7c2e
6:219050 MISSING Ref too long to show for this DEL>G	6	219050	1175738	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.219051_1175738del	VUS	1 lab	74d512f689
9:107645389 ABCA1 T>C	9	107645389	107645389	T	C	ABCA1	c.352A>G	NM_005502.4	NP_005493.2:p.(Lys118Glu)	NC_000009.11:g.107645389T>C	VUS	1 lab	74d8663411
11:108202277 ATM T>G	11	108202277	108202277	T	G	ATM	c.7622T>G	NM_000051.4	NP_000042.3:p.(Leu2541Arg)	NC_000011.9:g.108202277T>G	VUS	1 lab	74db0f2dce
2:120404629 CFAP221 AT>A	2	120404629	120404643	AT	A	CFAP221	c.2318+17del	NM_001271049.2	NP_001257978.2:p.?	NC_000002.11:g.120404643del	(Likely) benign	1 lab	74de870fc2
17:57663596 DHX40 TA>T	17	57663596	57663614	TA	T	DHX40	c.1424+20del	NM_024612.5	NP_078888.4:p.?	NC_000017.10:g.57663614del	(Likely) benign	1 lab	74e23da8a6
17:39919344 JUP G>C	17	39919344	39919344	G	C	JUP	c.1388C>G	NM_001352773.2	NP_001339702.1:p.(Thr463Ser)	NC_000017.10:g.39919344G>C	VUS	1 lab	74e3244cf3
19:45682941 BLOC1S3 C>A	19	45682941	45682941	C	A	BLOC1S3	c.387C>A	NM_212550.5	NP_997715.1:p.(Ser129Arg)	NC_000019.9:g.45682941C>A	VUS	1 lab	74e64e9902
13:32914468 BRCA2 A>G	13	32914468	32914468	A	G	BRCA2	c.5976A>G	NM_000059.4	NP_000050.3:p.(Ser1992=)	NC_000013.10:g.32914468A>G	(Likely) benign	1 lab	74e79dfafe
19:49675285 TRPM4 G>A	19	49675285	49675285	G	A	TRPM4	c.1070G>A	NM_017636.4	NP_060106.2:p.(Arg357Gln)	NC_000019.9:g.49675285G>A	VUS	1 lab	74e99bc477
2:21245850 APOB A>G	2	21245850	21245850	A	G	APOB	c.2669T>C	NM_000384.3	NP_000375.3:p.(Ile890Thr)	NC_000002.11:g.21245850A>G	VUS	1 lab	74ec08a2c8
5:172661748 NKX2-5 C>G	5	172661748	172661748	C	G	NKX2-5	c.334+5G>C	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172661748C>G	VUS	1 lab	74edb27c36
19:38951053 RYR1 A>G	19	38951053	38951053	A	G	RYR1	c.2399A>G	NM_000540.3	NP_000531.2:p.(Lys800Arg)	NC_000019.9:g.38951053A>G	VUS	1 lab	74effcfd5f
8:6378763 ANGPT2 C>T	8	6378763	6378763	C	T	ANGPT2	c.735G>A	NM_001147.3	NP_001138.1:p.(Gln245=)	NC_000008.10:g.6378763C>T	(Likely) benign	1 lab	74f4efd0a1
21:47088870 MISSING Ref too long to show for this DEL>A	21	47088870	48095856	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.47088871_48095856del	(Likely) pathogenic	1 lab	74f8a839d5
8:43053092 HGSNAT C>A	8	43053092	43053092	C	A	HGSNAT	c.1723C>A	NM_152419.3	NP_689632.2:p.(Pro575Thr)	NC_000008.10:g.43053092C>A	VUS	1 lab	74f9b4ae15
17:56774163 RAD51C C>T	17	56774163	56774163	C	T	RAD51C	c.514C>T	NM_058216.3	NP_478123.1:p.(Leu172Phe)	NC_000017.10:g.56774163C>T	(Likely) benign	1 lab	74fad702b4
15:58853132 LIPC T>C	15	58853132	58853132	T	C	LIPC	c.1121T>C	NM_000236.3	NP_000227.2:p.(Met374Thr)	NC_000015.9:g.58853132T>C	(Likely) benign	1 lab	7501d2aee3
15:45402080 DUOX2 A>G	15	45402080	45402080	A	G	DUOX2	c.1131+8T>C	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45402080A>G	(Likely) benign	1 lab	750e88b0f0
10:13169826 OPTN C>T	10	13169826	13169826	C	T	OPTN	c.1324C>T	NM_001008211.1	NP_001008212.1:p.(Leu442=)	NC_000010.10:g.13169826C>T	(Likely) benign	1 lab	7513363643
8:55541558 RP1 G>A	8	55541558	55541558	G	A	RP1	c.5116G>A	NM_006269.2	NP_006260.1:p.(Val1706Ile)	NC_000008.10:g.55541558G>A	VUS	1 lab	751584a336
14:55310492 GCH1 G>A	14	55310492	55310492	G	A	GCH1	c.*243C>T	NM_000161.3	NP_000152.1:p.?	NC_000014.8:g.55310492G>A	(Likely) benign	1 lab	754c6c207b
1:12017332 PLOD1 C>T	1	12017332	12017332	C	T	PLOD1	c.741+261C>T	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12017332C>T	(Likely) benign	1 lab	75181db105
X:152773843 BGN G>A	X	152773843	152773843	G	A	BGN	c.1047G>A	NM_001711.6	NP_001702.1:p.(Pro349=)	NC_000023.10:g.152773843G>A	(Likely) benign	1 lab	751a796a51
8:134145901 TG G>A	8	134145901	134145901	G	A	TG	c.8185G>A	NM_003235.5	NP_003226.4:p.(Ala2729Thr)	NC_000008.10:g.134145901G>A	(Likely) benign	1 lab	75236f79a8
9:119461551 ASTN2 A>G	9	119461551	119461551	A	G	ASTN2	c.2653+26499T>C	NM_014010.5	NP_054729.3:p.?	NC_000009.11:g.119461551A>G	(Likely) benign	1 lab	7524df6585
2:96952520 SNRNP200 G>A	2	96952520	96952520	G	A	SNRNP200	c.3735C>T	NM_014014.5	NP_054733.2:p.(Tyr1245=)	NC_000002.11:g.96952520G>A	(Likely) benign	1 lab	7533fa3f3c
2:219677418 CYP27A1 G>A	2	219677418	219677418	G	A	CYP27A1	c.790G>A	NM_000784.4	NP_000775.1:p.(Val264Met)	NC_000002.11:g.219677418G>A	VUS	1 lab	7534b390f4
22:19736622 MISSING Ref too long to show for this DEL>C	22	19736622	19804728	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.19736625_19804728del	(Likely) pathogenic	1 lab	753732d1e0
21:47421186 COL6A1 C>T	21	47421186	47421186	C	T	COL6A1	c.1842C>T	NM_001848.3	NP_001839.2:p.(Ile614=)	NC_000021.8:g.47421186C>T	(Likely) benign	1 lab	753a617c0d
4:100532309 MTTP C>T	4	100532309	100532309	C	T	MTTP	c.1779C>T	NM_000253.4	NP_000244.2:p.(Val593=)	NC_000004.11:g.100532309C>T	(Likely) benign	1 lab	753cc2a7da
10:112572017 RBM20 C>T	10	112572017	112572017	C	T	RBM20	c.1881-19C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112572017C>T	(Likely) benign	1 lab	7540483ce8
6:150690257 IYD G>A	6	150690257	150690257	G	A	IYD	c.90G>A	NM_001164694.2	NP_001158166.1:p.(Lys30=)	NC_000006.11:g.150690257G>A	(Likely) benign	1 lab	754257331e
16:1020919 LMF1 C>T	16	1020919	1020919	C	T	LMF1	c.62G>A	NM_022773.4	NP_073610.2:p.(Gly21Glu)	NC_000016.9:g.1020919C>T	VUS	1 lab	7548525c0f
2:179406162 TTN G>A	2	179406162	179406162	G	A	TTN	c.97642C>T	NM_001267550.2	NP_001254479.2:p.(Arg32548Cys)	NC_000002.11:g.179406162G>A	VUS	1 lab	754e0d1ea8
6:7562730 DSP C>A	6	7562730	7562730	C	A	DSP	c.598-155C>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7562730C>A	(Likely) benign	1 lab	7550111772
8:59411042 CYP7A1 G>A	8	59411042	59411042	G	A	CYP7A1	c.81-14C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59411042G>A	(Likely) benign	1 lab	75595d650e
3:123456282 MYLK A>C	3	123456282	123456282	A	C	MYLK	c.697T>G	NM_053025.4	NP_444253.3:p.(Cys233Gly)	NC_000003.11:g.123456282A>C	VUS	1 lab	7559dc69c8
5:178413368 GRM6 G>A	5	178413368	178413368	G	A	GRM6	c.1887C>T	NM_000843.4	NP_000834.2:p.(Thr629=)	NC_000005.9:g.178413368G>A	(Likely) benign	1 lab	755bcc7496
19:11224107 LDLR C>G	19	11224107	11224107	C	G	LDLR	c.1340C>G	NM_000527.5	NP_000518.1:p.(Ser447Cys)	NC_000019.9:g.11224107C>G	(Likely) pathogenic	1 lab	7567092e6b
5:177031426 B4GALT7 G>T	5	177031426	177031426	G	T	B4GALT7	c.297G>T	NM_007255.3	NP_009186.1:p.(Val99=)	NC_000005.9:g.177031426G>T	(Likely) benign	1 lab	7567300142
19:11216275 LDLR CGGTATGGGCGGGGCCAG>C	19	11216275	11216295	CGGTATGGGCGGGGCCAG	C	LDLR	c.694+3_694+19del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216279_11216295del	(Likely) pathogenic	1 lab	756a79f5fe
2:44100999 ABCG8 A>G	2	44100999	44100999	A	G	ABCG8	c.1285A>G	NM_022437.3	NP_071882.1:p.(Met429Val)	NC_000002.11:g.44100999A>G	(Likely) benign	1 lab	756c13f2a0
14:23855354 MYH6 G>T	14	23855354	23855354	G	T	MYH6	c.4960-14C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23855354G>T	(Likely) benign	1 lab	7570485c1d
9:27056376 IFT74 C>T	9	27056376	27056376	C	T	IFT74	c.1542C>T	NM_001099222.3	NP_001092692.1:p.(Ala514=)	NC_000009.11:g.27056376C>T	(Likely) benign	1 lab	75768eabcf
7:103151334 RELN G>T	7	103151334	103151334	G	T	RELN	c.8238C>A	NM_005045.4	NP_005036.2:p.(Asp2746Glu)	NC_000007.13:g.103151334G>T	VUS	1 lab	7579e0b893
11:116662555 APOA5 G>C	11	116662555	116662555	G	C	APOA5	c.22C>G	NM_052968.5	NP_443200.2:p.(Leu8Val)	NC_000011.9:g.116662555G>C	(Likely) benign	1 lab	757a830173
5:95768582 PCSK1 AT>A	5	95768582	95768583	AT	A	PCSK1	c.164del	NM_000439.5	NP_000430.3:p.(Tyr55LeufsTer42)	NC_000005.9:g.95768583del	(Likely) pathogenic	1 lab	757b1c7ec8
2:189863054 COL3A1 C>T	2	189863054	189863054	C	T	COL3A1	c.1977+9C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189863054C>T	(Likely) benign	1 lab	7582228adc
X:38158208 RPGR C>CCCTCT	X	38158208	38158214	C	CCCTCT	RPGR	c.1241_1245dup	NM_001034853.2	NP_001030025.1:p.(Glu416ArgfsTer11)	NC_000023.10:g.38158210_38158214dup	(Likely) pathogenic	1 lab	7588c3a5db
18:34238120 FHOD3 G>A	18	34238120	34238120	G	A	FHOD3	c.1804G>A	NM_001281740.3	NP_001268669.1:p.(Val602Ile)	NC_000018.9:g.34238120G>A	VUS	1 lab	758c0c8eb0
2:21239321 APOB C>T	2	21239321	21239321	C	T	APOB	c.3322G>A	NM_000384.3	NP_000375.3:p.(Gly1108Ser)	NC_000002.11:g.21239321C>T	VUS	1 lab	75998fb33c
12:89265930 MISSING A>Alt too long to show for this DUP	12	89265930	90187651	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.89265932_90187651dup	VUS	1 lab	75dad92b33
22:46782382 CELSR1 C>T	22	46782382	46782382	C	T	CELSR1	c.6656G>A	NM_001378328.1	NP_001365257.1:p.(Arg2219His)	NC_000022.10:g.46782382C>T	(Likely) benign	1 lab	75a737f93b
3:37053555 MLH1 C>T	3	37053555	37053555	C	T	MLH1	c.642C>T	NM_000249.4	NP_000240.1:p.(Asp214=)	NC_000003.11:g.37053555C>T	(Likely) benign	1 lab	75b6c8e8ae
2:187595212 MISSING T>Alt too long to show for this DUP	2	187595212	187685646	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.187595213_187685646dup	VUS	1 lab	75b7cd2a07
1:161276670 MPZ C>T	1	161276670	161276670	C	T	MPZ	c.276G>A	NM_000530.8	NP_000521.2:p.(Val92=)	NC_000001.10:g.161276670C>T	(Likely) benign	1 lab	75b863021a
3:38629179 SCN5A C>T	3	38629179	38629179	C	T	SCN5A	c.2263-115G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38629179C>T	(Likely) benign	1 lab	75bebc6780
15:58856351 LIPC A>ATCTC	15	58856351	58856374	A	ATCTC	LIPC	c.1388+449_1388+452dup	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856371_58856374dup	(Likely) benign	1 lab	75c14cfded
10:69933986 MYPN C>A	10	69933986	69933986	C	A	MYPN	c.2137C>A	NM_032578.4	NP_115967.2:p.(Pro713Thr)	NC_000010.10:g.69933986C>A	VUS	1 lab	75c6801a48
3:123985600 KALRN Ref too long to show for this DEL>A	3	123985600	124138130	Ref too long to show for this DEL	A	KALRN	c.457-1987_2543-3529del	NM_001388419.1	NP_001375348.1:p.?	NC_000003.11:g.123985603_124138130del	VUS	1 lab	75c682ee1d
9:72082739 APBA1 C>A	9	72082739	72082739	C	A	APBA1	c.1482G>T	NM_001163.4	NP_001154.2:p.(Lys494Asn)	NC_000009.11:g.72082739C>A	VUS	1 lab	75cce1c532
11:65319134 LTBP3 G>A	11	65319134	65319134	G	A	LTBP3	c.1532-99C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65319134G>A	(Likely) benign	1 lab	75cf01ea83
3:123332994 MYLK C>T	3	123332994	123332994	C	T	MYLK	c.5703G>A	NM_053025.4	NP_444253.3:p.(Thr1901=)	NC_000003.11:g.123332994C>T	(Likely) benign	1 lab	75da1af637
3:38654990 SCN5A G>A	3	38654990	38654990	G	A	SCN5A	c.703+244C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38654990G>A	(Likely) benign	1 lab	75de4783d8
X:70444029 GJB1 C>T	X	70444029	70444029	C	T	GJB1	c.472C>T	NM_000166.6	NP_000157.1:p.(Pro158Ser)	NC_000023.10:g.70444029C>T	(Likely) pathogenic	1 lab	75e39b53f6
15:23892412 MAGEL2 CCATTGGGGTCCCCGGAGGGGGAGGGTGGGA>C	15	23892412	23892460	CCATTGGGGTCCCCGGAGGGGGAGGGTGGGA	C	MAGEL2	c.448_477del	NM_019066.5	NP_061939.3:p.(Ser150_Met159del)	NC_000015.9:g.23892431_23892460del	(Likely) benign	1 lab	75e3dd9021
1:155449158 ASH1L G>T	1	155449158	155449158	G	T	ASH1L	c.3503C>A	NM_001366177.2	NP_001353106.1:p.(Pro1168Gln)	NC_000001.10:g.155449158G>T	VUS	1 lab	75e5ecec71
6:100061429 PRDM13 C>G	6	100061429	100061429	C	G	PRDM13	c.918C>G	NM_021620.4	NP_067633.2:p.(Ala306=)	NC_000006.11:g.100061429C>G	(Likely) benign	1 lab	75e6291952
X:70443594 GJB1 G>A	X	70443594	70443594	G	A	GJB1	c.37G>A	NM_000166.6	NP_000157.1:p.(Val13Met)	NC_000023.10:g.70443594G>A	(Likely) pathogenic	1 lab	75f65632e4
4:114294276 ANK2 A>G	4	114294276	114294276	A	G	ANK2	c.11641A>G	NM_001148.6	NP_001139.3:p.(Thr3881Ala)	NC_000004.11:g.114294276A>G	VUS	1 lab	75fb2c108c
19:17994644 SLC5A5 C>T	19	17994644	17994644	C	T	SLC5A5	c.1330-15C>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17994644C>T	(Likely) benign	1 lab	75fb70724c
12:21327740 SLCO1B1 C>A	12	21327740	21327740	C	A	SLCO1B1	c.359+97C>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327740C>A	(Likely) benign	1 lab	75fc1c3790
2:44047175 ABCG5 G>T	2	44047175	44047175	G	T	ABCG5	c.1528C>A	NM_022436.3	NP_071881.1:p.(His510Asn)	NC_000002.11:g.44047175G>T	(Likely) benign	1 lab	7600ea908e
11:65638441 EFEMP2 C>T	11	65638441	65638441	C	T	EFEMP2	c.367+187G>A	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65638441C>T	(Likely) benign	1 lab	7603ebf0cf
12:21968685 ABCC9 G>A	12	21968685	21968685	G	A	ABCC9	c.4023+12C>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21968685G>A	(Likely) benign	1 lab	7606b2d375
9:134379640 POMT1 C>G	9	134379640	134379640	C	G	POMT1	c.35C>G	NM_001353193.2	NP_001340122.2:p.(Thr12Arg)	NC_000009.11:g.134379640C>G	(Likely) pathogenic	1 lab	7608b33b37
2:179463278 TTN T>C	2	179463278	179463278	T	C	TTN	c.49362A>G	NM_133378.4	NP_596869.4:p.(Gly16454=)	NC_000002.11:g.179463278T>C	(Likely) benign	1 lab	760995c52a
12:58156978 CYP27B1 G>A	12	58156978	58156978	G	A	CYP27B1	c.1474C>T	NM_000785.4	NP_000776.1:p.(Arg492Trp)	NC_000012.11:g.58156978G>A	(Likely) pathogenic	1 lab	760b057be5
3:154802839 MME T>C	3	154802839	154802839	T	C	MME	c.161-9T>C	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154802839T>C	(Likely) benign	1 lab	760d4b5f8f
5:180378753 MISSING C>Alt too long to show for this DUP	5	180378753	180448171	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.180378754_180448171dup	(Likely) benign	1 lab	7614b176c4
12:57432576 MYO1A C>T	12	57432576	57432576	C	T	MYO1A	c.1533+17G>A	NM_001256041.2	NP_001242970.1:p.?	NC_000012.11:g.57432576C>T	(Likely) benign	1 lab	761529ee71
16:89347647 ANKRD11 G>T	16	89347647	89347647	G	T	ANKRD11	c.5303C>A	NM_001256182.2	NP_001243111.1:p.(Ser1768Ter)	NC_000016.9:g.89347647G>T	(Likely) pathogenic	1 lab	761b39d4be
19:10930693 DNM2 T>A	19	10930693	10930693	T	A	DNM2	c.1709T>A	NM_001005360.3	NP_001005360.1:p.(Leu570His)	NC_000019.9:g.10930693T>A	(Likely) pathogenic	1 lab	761f8077ca
10:88446850 LDB3 C>T	10	88446850	88446850	C	T	LDB3	c.714C>T	NM_001171610.2	NP_001165081.1:p.(Asn238=)	NC_000010.10:g.88446850C>T	(Likely) benign	1 lab	76203b202d
15:48818416 FBN1 T>C	15	48818416	48818416	T	C	FBN1	c.899A>G	NM_000138.5	NP_000129.3:p.(Glu300Gly)	NC_000015.9:g.48818416T>C	VUS	1 lab	7621022ba0
7:128482745 FLNC G>A	7	128482745	128482745	G	A	FLNC	c.2382G>A	NM_001458.5	NP_001449.3:p.(Ala794=)	NC_000007.13:g.128482745G>A	(Likely) benign	1 lab	76234f93e3
1:55521534 PCSK9 A>C	1	55521534	55521534	A	C	PCSK9	c.800-132A>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521534A>C	(Likely) benign	1 lab	762a927c02
16:57015084 CETP C>T	16	57015084	57015084	C	T	CETP	c.1161C>T	NM_000078.3	NP_000069.2:p.(Thr387=)	NC_000016.9:g.57015084C>T	(Likely) benign	1 lab	76318af095
2:179638579 TTN C>T	2	179638579	179638579	C	T	TTN	c.7316G>A	NM_001267550.2	NP_001254479.2:p.(Arg2439His)	NC_000002.11:g.179638579C>T	VUS	1 lab	76350322cf
16:30715551 SRCAP TCAGCTTATCC>T	16	30715551	30715564	TCAGCTTATCC	T	SRCAP	c.225_234del	NM_006662.3	NP_006653.2:p.(Ser75ArgfsTer44)	NC_000016.9:g.30715555_30715564del	(Likely) pathogenic	1 lab	763662304a
5:147805120 FBXO38 T>C	5	147805120	147805120	T	C	FBXO38	c.1774T>C	NM_030793.5	NP_110420.3:p.(Ser592Pro)	NC_000005.9:g.147805120T>C	(Likely) benign	1 lab	763d47c451
16:67976470 LCAT G>A	16	67976470	67976470	G	A	LCAT	c.544C>T	NM_000229.2	NP_000220.1:p.(Arg182Cys)	NC_000016.9:g.67976470G>A	VUS	1 lab	763d77744b
4:100540122 MTTP T>C	4	100540122	100540122	T	C	MTTP	c.2218-9T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100540122T>C	(Likely) benign	1 lab	7644ee9ab6
2:47630528 MSH2 C>A	2	47630528	47630528	C	A	MSH2	c.198C>A	NM_000251.3	NP_000242.1:p.(Tyr66Ter)	NC_000002.11:g.47630528C>A	(Likely) pathogenic	1 lab	764adcd998
15:48801079 FBN1 A>C	15	48801079	48801079	A	C	FBN1	c.1715-178T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48801079A>C	(Likely) benign	1 lab	764b1584c5
3:100467329 TFG C>T	3	100467329	100467329	C	T	TFG	c.1145C>T	NM_001195479.2	NP_001182408.1:p.(Pro382Leu)	NC_000003.11:g.100467329C>T	VUS	1 lab	764e4cdbdd
16:72130919 DHX38 C>T	16	72130919	72130919	C	T	DHX38	c.511+11C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72130919C>T	(Likely) benign	1 lab	764f7a671f
10:53822268 PRKG1 A>T	10	53822268	53822268	A	T	PRKG1	c.796-29A>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53822268A>T	(Likely) benign	1 lab	765448da84
5:127697354 FBN2 T>C	5	127697354	127697354	T	C	FBN2	c.2554+62A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127697354T>C	(Likely) benign	1 lab	765830fc1e
11:47366398 MYBPC3 A>G	11	47366398	47366398	A	G	MYBPC3	c.1091-1223T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366398A>G	(Likely) benign	1 lab	7659674dfc
17:43648526 MISSING Ref too long to show for this DEL>G	17	43648526	44212416	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.43648527_44212416del	(Likely) pathogenic	1 lab	765c33e295
2:179411616 TTN T>C	2	179411616	179411616	T	C	TTN	c.86835A>G	NM_133378.4	NP_596869.4:p.(Pro28945=)	NC_000002.11:g.179411616T>C	(Likely) benign	1 lab	76609e3b87
11:61730081 BEST1 G>A	11	61730081	61730081	G	A	BEST1	c.1275G>A	NM_001139443.2	NP_001132915.1:p.(Ala425=)	NC_000011.9:g.61730081G>A	(Likely) benign	1 lab	766172983c
19:11230817 LDLR A>T	19	11230817	11230817	A	T	LDLR	c.1895A>T	NM_000527.5	NP_000518.1:p.(Asn632Ile)	NC_000019.9:g.11230817A>T	(Likely) pathogenic	1 lab	7665dd151b
13:32911734 BRCA2 G>A	13	32911734	32911734	G	A	BRCA2	c.3242G>A	NM_000059.4	NP_000050.3:p.(Cys1081Tyr)	NC_000013.10:g.32911734G>A	(Likely) benign	1 lab	7667ad8ceb
2:234890498 MISSING T>Alt too long to show for this DUP	2	234890498	234956172	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.234890499_234956172dup	VUS	1 lab	766c462397
15:91303846 MISSING Ref too long to show for this DEL>G	15	91303846	91370869	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.91303847_91370869del	(Likely) pathogenic	1 lab	766e5e7497
6:112453936 LAMA4 G>C	6	112453936	112453936	G	C	LAMA4	c.3834+19C>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112453936G>C	(Likely) benign	1 lab	766f46c68d
6:44232977 NFKBIE G>A	6	44232977	44232977	G	A	NFKBIE	c.107C>T	NM_004556.3	NP_004547.3:p.(Pro36Leu)	NC_000006.11:g.44232977G>A	(Likely) benign	1 lab	7675fa881c
X:129150007 BCORL1 G>A	X	129150007	129150007	G	A	BCORL1	c.3259G>A	NM_021946.5	NP_068765.3:p.(Gly1087Arg)	NC_000023.10:g.129150007G>A	(Likely) benign	1 lab	767c9d7180
15:45427791 DUOX1 T>C	15	45427791	45427791	T	C	DUOX1	c.615T>C	NM_017434.5	NP_059130.2:p.(Phe205=)	NC_000015.9:g.45427791T>C	(Likely) benign	1 lab	767dd13ff1
3:179123009 GNB4 A>G	3	179123009	179123009	A	G	GNB4	c.885T>C	NM_021629.4	NP_067642.1:p.(Asn295=)	NC_000003.11:g.179123009A>G	(Likely) benign	1 lab	7686991c1f
9:16787334 MISSING A>Alt too long to show for this DUP	9	16787334	17344898	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.16787336_17344898dup	VUS	1 lab	768910bab9
6:56507503 DST A>G	6	56507503	56507503	A	G	DST	c.84T>C	NM_015548.5	NP_056363.2:p.(Asn28=)	NC_000006.11:g.56507503A>G	(Likely) benign	1 lab	768c5d0c96
16:2941230 MISSING Ref too long to show for this DEL>A	16	2941230	2984890	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.2941231_2984890del	VUS	1 lab	768dd5a952
17:75484304 SEPTIN9 G>T	17	75484304	75484304	G	T	SEPTIN9	c.989-18G>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484304G>T	(Likely) benign	1 lab	768ead29bb
10:55583004 PCDH15 CTTGTGAGCCTCAATAGT>C	10	55583004	55583021	CTTGTGAGCCTCAATAGT	C	PCDH15	c.4486_4502del	NM_001142763.2	NP_001136235.1:p.(Thr1496ValfsTer9)	NC_000010.10:g.55583005_55583021del	VUS	1 lab	7692cd3468
12:1270112 ERC1 Ref too long to show for this DEL>C	12	1270112	1432800	Ref too long to show for this DEL	C	ERC1	c.1737+19160_2780+33622del	NM_178040.4	NP_829884.1:p.?	NC_000012.11:g.1270113_1432800del	VUS	1 lab	76953c732c
2:44102496 ABCG8 A>C	2	44102496	44102496	A	C	ABCG8	c.1700A>C	NM_022437.3	NP_071882.1:p.(Tyr567Ser)	NC_000002.11:g.44102496A>C	VUS	1 lab	7696810f1e
1:116280839 CASQ2 A>G	1	116280839	116280839	A	G	CASQ2	c.532+6T>C	NM_001232.4	NP_001223.2:p.?	NC_000001.10:g.116280839A>G	(Likely) benign	1 lab	785d52781d
1:66058850 LEPR A>ATAAT	1	66058850	66058853	A	ATAAT	LEPR	c.703+304_703+305insATTA	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66058852_66058853insATTA	(Likely) benign	1 lab	76a6fa2f68
7:75933158 HSPB1 C>A	7	75933158	75933158	C	A	HSPB1	c.404C>A	NM_001540.5	NP_001531.1:p.(Ser135Tyr)	NC_000007.13:g.75933158C>A	(Likely) pathogenic	1 lab	76a75fcd69
1:173883708 SERPINC1 G>A	1	173883708	173883708	G	A	SERPINC1	c.391C>T	NM_000488.4	NP_000479.1:p.(Leu131Phe)	NC_000001.10:g.173883708G>A	(Likely) pathogenic	1 lab	76a98aba88
18:19433154 MIB1 C>T	18	19433154	19433154	C	T	MIB1	c.2640C>T	NM_020774.4	NP_065825.1:p.(Pro880=)	NC_000018.9:g.19433154C>T	(Likely) benign	1 lab	76adfc1012
21:44476953 CBS C>T	21	44476953	44476953	C	T	CBS	c.1512G>A	NM_000071.3	NP_000062.1:p.(Glu504=)	NC_000021.8:g.44476953C>T	(Likely) benign	1 lab	76ae7f6451
4:1940175 NSD2 TAGAG>T	4	1940175	1940182	TAGAG	T	NSD2	c.1676_1679del	NM_133334.2	NP_579889.1:p.(Arg559ThrfsTer38)	NC_000004.11:g.1940179_1940182del	(Likely) pathogenic	1 lab	76b20dee26
3:181430601 SOX2 G>A	3	181430601	181430601	G	A	SOX2	c.453G>A	NM_003106.4	NP_003097.1:p.(Ala151=)	NC_000003.11:g.181430601G>A	(Likely) benign	1 lab	76b3d92194
2:241728726 KIF1A A>G	2	241728726	241728726	A	G	KIF1A	c.110T>C	NM_001244008.2	NP_001230937.1:p.(Ile37Thr)	NC_000002.11:g.241728726A>G	VUS	1 lab	76b9cceefd
14:102843039 TECPR2 A>C	14	102843039	102843039	A	C	TECPR2	c.-20A>C	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102843039A>C	(Likely) benign	1 lab	76bbaeaa4f
2:179616580 TTN A>G	2	179616580	179616580	A	G	TTN	c.10547T>C	NM_133379.5	NP_596870.2:p.(Leu3516Ser)	NC_000002.11:g.179616580A>G	(Likely) benign	1 lab	76bbf513be
11:1018272 MUC6 C>G	11	1018272	1018272	C	G	MUC6	c.4529G>C	NM_005961.3	NP_005952.2:p.(Ser1510Thr)	NC_000011.9:g.1018272C>G	(Likely) benign	1 lab	76bdf3c9d2
19:7594511 MCOLN1 C>T	19	7594511	7594511	C	T	MCOLN1	c.1272C>T	NM_020533.3	NP_065394.1:p.(Ser424=)	NC_000019.9:g.7594511C>T	(Likely) benign	1 lab	76c134499b
15:23892579 MAGEL2 G>A	15	23892579	23892579	G	A	MAGEL2	c.311C>T	NM_019066.5	NP_061939.3:p.(Thr104Ile)	NC_000015.9:g.23892579G>A	VUS	1 lab	76c2618bb8
13:67445784 PCDH9 Ref too long to show for this DEL>T	13	67445784	67512393	Ref too long to show for this DEL	T	PCDH9	c.3037-34655_3138+31851del	NM_203487.3	NP_982354.1:p.?	NC_000013.10:g.67445786_67512393del	VUS	1 lab	76c27e4794
1:39918364 MACF1 G>A	1	39918364	39918364	G	A	MACF1	c.14445G>A	NM_012090.5	NP_036222.3:p.(Val4815=)	NC_000001.10:g.39918364G>A	(Likely) benign	1 lab	76d39178d4
8:17933099 ASAH1 G>A	8	17933099	17933099	G	A	ASAH1	c.79-3C>T	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17933099G>A	(Likely) benign	1 lab	76de9ae890
1:236900617 ACTN2 A>ATATATATATATTTT	1	236900617	236900619	A	ATATATATATATTTT	ACTN2	c.876+104_876+105insATATATATATTTTT	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900618_236900619insATATATATATTTTT	(Likely) benign	1 lab	76df9ba2ae
11:65308163 LTBP3 G>A	11	65308163	65308163	G	A	LTBP3	c.2978-78C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308163G>A	(Likely) benign	1 lab	76e6dfd032
15:67740390 IQCH Ref too long to show for this DEL>G	15	67740390	67766039	Ref too long to show for this DEL	G	IQCH	c.2506-17073_2677-1995del	NM_001031715.3	NP_001026885.2:p.?	NC_000015.9:g.67740392_67766039del	VUS	1 lab	76e7854424
7:100853379 PLOD3 C>G	7	100853379	100853379	C	G	PLOD3	c.1678G>C	NM_001084.5	NP_001075.1:p.(Glu560Gln)	NC_000007.13:g.100853379C>G	(Likely) benign	1 lab	76ed2b0853
7:128478794 FLNC G>A	7	128478794	128478794	G	A	FLNC	c.1348G>A	NM_001458.5	NP_001449.3:p.(Val450Met)	NC_000007.13:g.128478794G>A	VUS	1 lab	76ef191c42
1:156849894 NTRK1 T>G	1	156849894	156849894	T	G	NTRK1	c.2150T>G	NM_002529.4	NP_002520.2:p.(Leu717Arg)	NC_000001.10:g.156849894T>G	(Likely) pathogenic	1 lab	76f6240776
14:65568304 MAX GA>G	14	65568304	65568315	GA	G	MAX	c.37-15del	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65568315del	(Likely) benign	1 lab	76fc433cf9
1:74905285 TNNI3K C>A	1	74905285	74905285	C	A	TNNI3K	c.1990C>A	NM_015978.3	NP_057062.1:p.(Pro664Thr)	NC_000001.10:g.74905285C>A	VUS	1 lab	77048f6fc7
6:7577264 DSP A>T	6	7577264	7577264	A	T	DSP	c.2866A>T	NM_004415.4	NP_004406.2:p.(Asn956Tyr)	NC_000006.11:g.7577264A>T	VUS	1 lab	7706ccad22
9:135797345 TSC1 A>G	9	135797345	135797345	A	G	TSC1	c.524T>C	NM_000368.5	NP_000359.1:p.(Val175Ala)	NC_000009.11:g.135797345A>G	VUS	1 lab	770866bba5
5:82817326 VCAN G>A	5	82817326	82817326	G	A	VCAN	c.3201G>A	NM_004385.5	NP_004376.2:p.(Glu1067=)	NC_000005.9:g.82817326G>A	(Likely) benign	1 lab	770881aa9d
19:45412108 APOE C>T	19	45412108	45412108	C	T	APOE	c.633C>T	NM_001302688.2	NP_001289617.1:p.(Arg211=)	NC_000019.9:g.45412108C>T	(Likely) benign	1 lab	77089c30d7
17:33428288 RAD51D C>T	17	33428288	33428288	C	T	RAD51D	c.835G>A	NM_002878.4	NP_002869.3:p.(Asp279Asn)	NC_000017.10:g.33428288C>T	VUS	1 lab	7711f257aa
2:187561805 FAM171B Ref too long to show for this DEL>C	2	187561805	187572669	Ref too long to show for this DEL	C	FAM171B	c.238+2668_238+13531del	NM_177454.4	NP_803237.3:p.?	NC_000002.11:g.187561806_187572669del	VUS	1 lab	77136698e2
9:12709068 TYRP1 G>A	9	12709068	12709068	G	A	TYRP1	c.1500G>A	NM_000550.3	NP_000541.1:p.(Leu500=)	NC_000009.11:g.12709068G>A	(Likely) benign	1 lab	771c723d87
9:107554255 ABCA1 C>T	9	107554255	107554255	C	T	ABCA1	c.5782G>A	NM_005502.4	NP_005493.2:p.(Ala1928Thr)	NC_000009.11:g.107554255C>T	VUS	1 lab	772684a43d
6:146720619 GRM1 C>G	6	146720619	146720619	C	G	GRM1	c.2444C>G	NM_001278065.2	NP_001264994.1:p.(Thr815Ser)	NC_000006.11:g.146720619C>G	VUS	1 lab	772753c505
2:21225907 APOB C>A	2	21225907	21225907	C	A	APOB	c.12387G>T	NM_000384.3	NP_000375.3:p.(Arg4129Ser)	NC_000002.11:g.21225907C>A	(Likely) benign	1 lab	77368896c2
4:15972721 PROM1 AT>A	4	15972721	15972722	AT	A	PROM1	c.2583-17del	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.15972722del	(Likely) benign	1 lab	773796ab7d
4:120072073 MYOZ2 C>T	4	120072073	120072073	C	T	MYOZ2	c.123C>T	NM_016599.5	NP_057683.1:p.(Asp41=)	NC_000004.11:g.120072073C>T	(Likely) benign	1 lab	773a2bcecc
2:179396399 TTN T>C	2	179396399	179396399	T	C	TTN	c.104943A>G	NM_001267550.2	NP_001254479.2:p.(Glu34981=)	NC_000002.11:g.179396399T>C	(Likely) benign	1 lab	773d53592a
8:133881996 TG G>A	8	133881996	133881996	G	A	TG	c.199G>A	NM_003235.5	NP_003226.4:p.(Gly67Ser)	NC_000008.10:g.133881996G>A	(Likely) benign	1 lab	7741ffd07f
8:100523754 VPS13B A>AT	8	100523754	100523762	A	AT	VPS13B	c.4708+22dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100523762dup	(Likely) benign	1 lab	77475599e6
11:108198491 ATM AT>A	11	108198491	108198496	AT	A	ATM	c.7089+11del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108198496del	(Likely) benign	1 lab	774bb19120
17:45221298 CDC27 A>G	17	45221298	45221298	A	G	CDC27	c.1139T>C	NM_001114091.4	NP_001107563.1:p.(Leu380Pro)	NC_000017.10:g.45221298A>G	(Likely) benign	1 lab	774cb49e98
5:86564477 RASA1 A>G	5	86564477	86564477	A	G	RASA1	c.209A>G	NM_002890.3	NP_002881.1:p.(Glu70Gly)	NC_000005.9:g.86564477A>G	(Likely) benign	1 lab	775751fb24
4:113506885 ZGRF1 CA>C	4	113506885	113506899	CA	C	ZGRF1	c.3917-5del	NM_018392.5	NP_060862.3:p.?	NC_000004.11:g.113506899del	(Likely) benign	1 lab	7768f571e4
11:6413009 SMPD1 A>G	11	6413009	6413009	A	G	SMPD1	c.714A>G	NM_001318087.2	NP_001305016.1:p.(Ala238=)	NC_000011.9:g.6413009A>G	(Likely) benign	1 lab	776e0539d8
18:19359654 MIB1 A>G	18	19359654	19359654	A	G	MIB1	c.908+8A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19359654A>G	(Likely) benign	1 lab	776f3dd435
12:38714351 ALG10B T>G	12	38714351	38714351	T	G	ALG10B	c.758T>G	NM_001013620.4	NP_001013642.2:p.(Leu253Trp)	NC_000012.11:g.38714351T>G	(Likely) benign	1 lab	7770e05686
7:100679791 MUC17 A>C	7	100679791	100679791	A	C	MUC17	c.5094A>C	NM_001040105.2	NP_001035194.1:p.(Arg1698Ser)	NC_000007.13:g.100679791A>C	(Likely) benign	1 lab	777646ec15
1:148346627 NBPF26 C>G	1	148346627	148346627	C	G	NBPF26	c.130=	NM_001351372.1	NP_001338301.1:p.(Leu44=)	NC_000001.10:g.148346627C>G	(Likely) benign	1 lab	7778de2af7
1:204236219 MISSING A>Alt too long to show for this DUP	1	204236219	204353198	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.204236220_204353198dup	VUS	1 lab	7781a54eaf
1:214575128 PTPN14 T>C	1	214575128	214575128	T	C	PTPN14	c.582-13A>G	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214575128T>C	(Likely) benign	1 lab	77850f27c3
12:110226437 TRPV4 G>A	12	110226437	110226437	G	A	TRPV4	c.1976C>T	NM_021625.5	NP_067638.3:p.(Ser659Leu)	NC_000012.11:g.110226437G>A	VUS	1 lab	778a59d280
4:147215170 SLC10A7 G>A	4	147215170	147215170	G	A	SLC10A7	c.633C>T	NM_001029998.6	NP_001025169.1:p.(Leu211=)	NC_000004.11:g.147215170G>A	(Likely) benign	1 lab	778dc83869
X:38169875 RPGR AACC>A	X	38169875	38169880	AACC	A	RPGR	c.768_770del	NM_001034853.2	NP_001030025.1:p.(Val257del)	NC_000023.10:g.38169878_38169880del	VUS	1 lab	779133e6bc
9:137664458 COL5A1 G>T	9	137664458	137664458	G	T	COL5A1	c.2287-178G>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664458G>T	(Likely) benign	1 lab	77a5070993
4:114286345 ANK2 C>CTG	4	114286345	114286356	C	CTG	ANK2	c.11032+17_11032+18dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286355_114286356dup	(Likely) benign	1 lab	77a551b0a1
X:70443834 GJB1 A>G	X	70443834	70443834	A	G	GJB1	c.277A>G	NM_000166.6	NP_000157.1:p.(Met93Val)	NC_000023.10:g.70443834A>G	(Likely) pathogenic	1 lab	77a89b6ebf
3:38622702 SCN5A C>T	3	38622702	38622702	C	T	SCN5A	c.2948G>A	NM_198056.3	NP_932173.1:p.(Gly983Asp)	NC_000003.11:g.38622702C>T	VUS	1 lab	77b0605d62
19:11227676 LDLR T>A	19	11227676	11227676	T	A	LDLR	c.1845+2T>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227676T>A	(Likely) pathogenic	1 lab	77b97c0236
4:100512426 MTTP A>G	4	100512426	100512426	A	G	MTTP	c.536A>G	NM_000253.4	NP_000244.2:p.(Gln179Arg)	NC_000004.11:g.100512426A>G	VUS	1 lab	77bb3eb0c7
18:33952655 FHOD3 G>A	18	33952655	33952655	G	A	FHOD3	c.285G>A	NM_001281740.3	NP_001268669.1:p.(Lys95=)	NC_000018.9:g.33952655G>A	(Likely) benign	1 lab	77c3aacdc9
12:125299536 SCARB1 G>A	12	125299536	125299536	G	A	SCARB1	c.409C>T	NM_001367981.1	NP_001354910.1:p.(Pro137Ser)	NC_000012.11:g.125299536G>A	VUS	1 lab	77c8c3b030
7:100647774 MUC12 C>G	7	100647774	100647774	C	G	MUC12	c.13930C>G	NM_001164462.1	NP_001157934.1:p.(Pro4644Ala)	NC_000007.13:g.100647774C>G	(Likely) benign	1 lab	77cc103137
15:73660426 HCN4 C>T	15	73660426	73660426	C	T	HCN4	c.186G>A	NM_005477.3	NP_005468.1:p.(Ala62=)	NC_000015.9:g.73660426C>T	VUS	1 lab	77ce5a4ed0
1:156849093 NTRK1 T>C	1	156849093	156849093	T	C	NTRK1	c.1985T>C	NM_002529.4	NP_002520.2:p.(Leu662Pro)	NC_000001.10:g.156849093T>C	VUS	1 lab	77ce76453d
16:81397515 GAN G>A	16	81397515	81397515	G	A	GAN	c.1203G>A	NM_022041.4	NP_071324.1:p.(Trp401Ter)	NC_000016.9:g.81397515G>A	(Likely) pathogenic	1 lab	77cf1d2c29
22:50682208 TUBGCP6 G>A	22	50682208	50682208	G	A	TUBGCP6	c.681C>T	NM_020461.4	NP_065194.3:p.(Asp227=)	NC_000022.10:g.50682208G>A	(Likely) benign	1 lab	77d28b2dc5
7:140426257 BRAF A>G	7	140426257	140426257	A	G	BRAF	c.2187T>C	NM_001378468.1	NP_001365397.1:p.(Ser729=)	NC_000007.13:g.140426257A>G	(Likely) benign	1 lab	77d3d18fa6
11:71146778 DHCR7 CTGG>C	11	71146778	71146785	CTGG	C	DHCR7	c.1068_1070del	NM_001360.3	NP_001351.2:p.(His356del)	NC_000011.9:g.71146783_71146785del	(Likely) pathogenic	1 lab	77d5a06be6
15:44878042 SPG11 T>TCTGG	15	44878042	44878046	T	TCTGG	SPG11	c.4909_4912dup	NM_025137.4	NP_079413.3:p.(Asp1638AlafsTer21)	NC_000015.9:g.44878043_44878046dup	(Likely) pathogenic	1 lab	77e2204cab
19:49671503 TRPM4 C>T	19	49671503	49671503	C	T	TRPM4	c.449-14C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49671503C>T	(Likely) benign	1 lab	77ead4b208
15:65312614 MTFMT C>CA	15	65312614	65312628	C	CA	MTFMT	c.646-5dup	NM_139242.4	NP_640335.2:p.?	NC_000015.9:g.65312628dup	(Likely) benign	1 lab	77ec390520
2:238232752 COL6A3 C>A	2	238232752	238232752	C	A	COL6A3	c.*665G>T	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238232752C>A	(Likely) benign	1 lab	77ece1e35d
2:73717154 ALMS1 C>T	2	73717154	73717154	C	T	ALMS1	c.8071C>T	NM_015120.4	NP_055935.4:p.(Pro2691Ser)	NC_000002.11:g.73717154C>T	VUS	1 lab	77ed8bf498
8:100866501 VPS13B AG>A	8	100866501	100866504	AG	A	VPS13B	c.10942+20del	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100866504del	(Likely) benign	1 lab	77edcc22b9
7:45067372 CCM2 C>G	7	45067372	45067372	C	G	CCM2	c.69C>G	NM_001029835.2	NP_001025006.1:p.(His23Gln)	NC_000007.13:g.45067372C>G	VUS	1 lab	77f06c002e
6:111498724 SLC16A10 C>T	6	111498724	111498724	C	T	SLC16A10	c.798C>T	NM_018593.5	NP_061063.2:p.(Ser266=)	NC_000006.11:g.111498724C>T	(Likely) benign	1 lab	77f8c13529
15:48752392 FBN1 T>C	15	48752392	48752392	T	C	FBN1	c.5296+51A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48752392T>C	(Likely) benign	1 lab	77fbc6556f
2:179612933 TTN A>T	2	179612933	179612933	A	T	TTN	c.14194T>A	NM_133379.5	NP_596870.2:p.(Ser4732Thr)	NC_000002.11:g.179612933A>T	(Likely) benign	1 lab	7809ebd988
9:137688136 COL5A1 C>T	9	137688136	137688136	C	T	COL5A1	c.2800-84C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137688136C>T	(Likely) benign	1 lab	78183d07c3
12:7177553 C1S C>T	12	7177553	7177553	C	T	C1S	c.1665C>T	NM_001734.5	NP_001725.1:p.(Ser555=)	NC_000012.11:g.7177553C>T	(Likely) benign	1 lab	7819e33480
2:21225164 APOB A>G	2	21225164	21225164	A	G	APOB	c.13130T>C	NM_000384.3	NP_000375.3:p.(Ile4377Thr)	NC_000002.11:g.21225164A>G	VUS	1 lab	781bacf1be
2:179394964 TTN T>C	2	179394964	179394964	T	C	TTN	c.106374+4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179394964T>C	VUS	1 lab	781d4f2d66
10:97402889 ALDH18A1 G>A	10	97402889	97402889	G	A	ALDH18A1	c.163C>T	NM_002860.4	NP_002851.2:p.(Arg55Cys)	NC_000010.10:g.97402889G>A	VUS	1 lab	781f22c821
15:48729277 FBN1 T>C	15	48729277	48729277	T	C	FBN1	c.6380-3A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48729277T>C	VUS	1 lab	782065cd25
5:112178917 APC T>C	5	112178917	112178917	T	C	APC	c.7626T>C	NM_000038.6	NP_000029.2:p.(Asn2542=)	NC_000005.9:g.112178917T>C	(Likely) benign	1 lab	78222c85e4
5:148407528 SH3TC2 G>A	5	148407528	148407528	G	A	SH3TC2	c.1767C>T	NM_024577.4	NP_078853.2:p.(Ser589=)	NC_000005.9:g.148407528G>A	(Likely) benign	1 lab	782636c509
12:2027402 CACNA2D4 G>A	12	2027402	2027402	G	A	CACNA2D4	c.227+11C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.2027402G>A	(Likely) benign	1 lab	78265adcff
6:56495124 DST T>C	6	56495124	56495124	T	C	DST	c.4101A>G	NM_001144769.5	NP_001138241.1:p.(Lys1367=)	NC_000006.11:g.56495124T>C	(Likely) benign	1 lab	78292c85f3
16:88504672 ZNF469 G>A	16	88504672	88504672	G	A	ZNF469	c.10794G>A	NM_001367624.2	NP_001354553.1:p.(Gly3598=)	NC_000016.9:g.88504672G>A	(Likely) benign	1 lab	782944e003
10:103859086 MISSING Ref too long to show for this DEL>T	10	103859086	103891023	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.103859087_103891023del	VUS	1 lab	7829ee4361
2:219679672 CYP27A1 G>A	2	219679672	219679672	G	A	CYP27A1	c.1515G>A	NM_000784.4	NP_000775.1:p.(Thr505=)	NC_000002.11:g.219679672G>A	(Likely) benign	1 lab	782b7da87d
19:55359532 KIR2DS4 G>A	19	55359532	55359532	G	A	KIR2DS4	c.*307G>A	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359532G>A	(Likely) benign	1 lab	78306324f2
9:137712193 COL5A1 G>A	9	137712193	137712193	G	A	COL5A1	c.4554+124G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137712193G>A	(Likely) benign	1 lab	7836b28f08
6:32485524 HLA-DRB5 C>G	6	32485524	32485524	C	G	HLA-DRB5	c.793G>C	NM_002125.4	NP_002116.2:p.(Val265Leu)	NC_000006.11:g.32485524C>G	(Likely) benign	1 lab	7839b4160d
12:5153573 KCNA5 G>A	12	5153573	5153573	G	A	KCNA5	c.260G>A	NM_002234.4	NP_002225.2:p.(Arg87Gln)	NC_000012.11:g.5153573G>A	VUS	1 lab	7840d783c6
X:21627653 CNKSR2 C>T	X	21627653	21627653	C	T	CNKSR2	c.2610C>T	NM_014927.5	NP_055742.2:p.(Asp870=)	NC_000023.10:g.21627653C>T	(Likely) benign	1 lab	7841260cf4
15:58860915 LIPC A>T	15	58860915	58860915	A	T	LIPC	c.1389A>T	NM_000236.3	NP_000227.2:p.(Arg463Ser)	NC_000015.9:g.58860915A>T	VUS	1 lab	7843a77a07
19:50912835 POLD1 G>A	19	50912835	50912835	G	A	POLD1	c.2066G>A	NM_001256849.1	NP_001243778.1:p.(Arg689Gln)	NC_000019.9:g.50912835G>A	VUS	1 lab	78455ae680
12:125263097 SCARB1 G>A	12	125263097	125263097	G	A	SCARB1	c.1437C>T	NM_001082959.2	NP_001076428.1:p.(Ala479=)	NC_000012.11:g.125263097G>A	(Likely) benign	1 lab	784b8419e8
2:44049967 ABCG5 C>T	2	44049967	44049967	C	T	ABCG5	c.1432G>A	NM_022436.3	NP_071881.1:p.(Ala478Thr)	NC_000002.11:g.44049967C>T	VUS	1 lab	784c53e91c
8:42821678 HOOK3 A>C	8	42821678	42821678	A	C	HOOK3	c.842A>C	NM_032410.4	NP_115786.1:p.(Glu281Ala)	NC_000008.10:g.42821678A>C	VUS	1 lab	784ce3e031
19:49694041 TRPM4 C>G	19	49694041	49694041	C	G	TRPM4	c.2210+11C>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49694041C>G	(Likely) benign	1 lab	785ed694cf
5:38528951 LIFR GAC>G	5	38528951	38528980	GAC	G	LIFR	c.143-11_143-10del	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38528979_38528980del	(Likely) benign	1 lab	785ed98b50
2:1460070 TPO C>T	2	1460070	1460070	C	T	TPO	c.819+16C>T	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1460070C>T	(Likely) benign	1 lab	786311a654
10:90708581 ACTA2 A>G	10	90708581	90708581	A	G	ACTA2	c.107T>C	NM_001141945.2	NP_001135417.1:p.(Ile36Thr)	NC_000010.10:g.90708581A>G	VUS	1 lab	786315b24e
8:59409433 CYP7A1 T>C	8	59409433	59409433	T	C	CYP7A1	c.638A>G	NM_000780.4	NP_000771.2:p.(Asp213Gly)	NC_000008.10:g.59409433T>C	VUS	1 lab	786329d587
1:6532670 PLEKHG5 G>T	1	6532670	6532670	G	T	PLEKHG5	c.997C>A	NM_198681.4	NP_941374.3:p.(Arg333=)	NC_000001.10:g.6532670G>T	(Likely) benign	1 lab	78643e8ae9
8:42829258 HOOK3 A>C	8	42829258	42829258	A	C	HOOK3	c.1242A>C	NM_032410.4	NP_115786.1:p.(Arg414Ser)	NC_000008.10:g.42829258A>C	VUS	1 lab	7865db67fd
X:116899769 MISSING A>Alt too long to show for this DUP	X	116899769	117042866	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.116899772_117042866dup	VUS	1 lab	786800a4bc
1:16892282 NBPF1 C>A	1	16892282	16892282	C	A	NBPF1	c.3135G>T	NM_017940.6	NP_060410.3:p.(Leu1045=)	NC_000001.10:g.16892282C>A	(Likely) benign	1 lab	786a6e6d2a
1:161277151 MPZ G>A	1	161277151	161277151	G	A	MPZ	c.131C>T	NM_000530.8	NP_000521.2:p.(Ser44Phe)	NC_000001.10:g.161277151G>A	(Likely) pathogenic	1 lab	7870e182ba
17:33769172 SLFN13 G>A	17	33769172	33769172	G	A	SLFN13	c.1332C>T	NM_144682.6	NP_653283.3:p.(Ser444=)	NC_000017.10:g.33769172G>A	(Likely) benign	1 lab	787e0f48af
4:65145869 TECRL T>G	4	65145869	65145869	T	G	TECRL	c.1013A>C	NM_001010874.5	NP_001010874.2:p.(Gln338Pro)	NC_000004.11:g.65145869T>G	VUS	1 lab	787e557493
1:40767061 COL9A2 C>A	1	40767061	40767061	C	A	COL9A2	c.1871-8G>T	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40767061C>A	(Likely) benign	1 lab	7882144e28
6:152129399 ESR1 T>C	6	152129399	152129399	T	C	ESR1	c.352T>C	NM_001122742.2	NP_001116214.1:p.(Ser118Pro)	NC_000006.11:g.152129399T>C	(Likely) benign	1 lab	78839a509c
7:137002022 MISSING T>Alt too long to show for this DUP	7	137002022	137331709	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.137002023_137331709dup	VUS	1 lab	7883effefb
20:25303978 ABHD12 G>A	20	25303978	25303978	G	A	ABHD12	c.405C>T	NM_001042472.3	NP_001035937.1:p.(Asp135=)	NC_000020.10:g.25303978G>A	(Likely) benign	1 lab	7885d85018
10:123260424 FGFR2 C>G	10	123260424	123260424	C	G	FGFR2	c.1480G>C	NM_022970.3	NP_075259.4:p.(Gly494Arg)	NC_000010.10:g.123260424C>G	(Likely) pathogenic	1 lab	7889d59784
19:49705415 TRPM4 C>T	19	49705415	49705415	C	T	TRPM4	c.3131+17C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49705415C>T	(Likely) benign	1 lab	788c2e799b
14:20897096 KLHL33 GC>G	14	20897096	20897099	GC	G	KLHL33	c.2305del	NM_001365790.2	NP_001352719.1:p.(Ala769LeufsTer8)	NC_000014.8:g.20897099del	VUS	1 lab	788e98096d
9:117185728 WHRN G>A	9	117185728	117185728	G	A	WHRN	c.1492C>T	NM_015404.4	NP_056219.3:p.(Arg498Cys)	NC_000009.11:g.117185728G>A	VUS	1 lab	78903f7426
6:56504259 DST C>T	6	56504259	56504259	C	T	DST	c.2749G>A	NM_001144769.5	NP_001138241.1:p.(Asp917Asn)	NC_000006.11:g.56504259C>T	VUS	1 lab	789500b0f4
1:18812478 MISSING C>CAA	1	18812478	18812493	C	CAA	MISSING				NC_000001.10:g.18812492_18812493dup	(Likely) benign	1 lab	78980aaf00
12:117977550 KSR2 C>T	12	117977550	117977550	C	T	KSR2	c.1661G>A	NM_173598.6	NP_775869.4:p.(Arg554Gln)	NC_000012.11:g.117977550C>T	(Likely) benign	1 lab	789b5da4d1
8:41790121 KAT6A G>A	8	41790121	41790121	G	A	KAT6A	c.5617C>T	NM_006766.5	NP_006757.2:p.(Gln1873Ter)	NC_000008.10:g.41790121G>A	(Likely) pathogenic	1 lab	78a5176fba
11:116662404 APOA5 G>A	11	116662404	116662404	G	A	APOA5	c.59C>T	NM_052968.5	NP_443200.2:p.(Ala20Val)	NC_000011.9:g.116662404G>A	VUS	1 lab	78a702b7bc
9:3675720 MISSING Ref too long to show for this DEL>C	9	3675720	3810694	Ref too long to show for this DEL	C	MISSING				NC_000009.11:g.3675722_3810694del	VUS	1 lab	78a87a2ba6
12:31440720 SINHCAF T>A	12	31440720	31440720	T	A	SINHCAF	c.356-2A>T	NM_001135811.2	NP_001129283.1:p.?	NC_000012.11:g.31440720T>A	VUS	1 lab	78aa3fe94b
10:112572140 RBM20 C>T	10	112572140	112572140	C	T	RBM20	c.1985C>T	NM_001134363.3	NP_001127835.2:p.(Pro662Leu)	NC_000010.10:g.112572140C>T	VUS	1 lab	78aa5d41c7
15:100692845 ADAMTS17 A>G	15	100692845	100692845	A	G	ADAMTS17	c.1445T>C	NM_139057.4	NP_620688.2:p.(Met482Thr)	NC_000015.9:g.100692845A>G	(Likely) benign	1 lab	78ab06fd63
9:117168825 WHRN C>G	9	117168825	117168825	C	G	WHRN	c.2046G>C	NM_015404.4	NP_056219.3:p.(Arg682=)	NC_000009.11:g.117168825C>G	(Likely) benign	1 lab	78aecda17b
22:51137173 SHANK3 CTGGTTCCCGGCCGACTGCG>C	22	51137173	51137195	CTGGTTCCCGGCCGACTGCG	C	SHANK3	c.1783_1801del	NM_001372044.2	NP_001358973.1:p.(Phe595ArgfsTer5)	NC_000022.10:g.51137177_51137195del	(Likely) pathogenic	1 lab	78af3149ef
2:21229581 APOB A>G	2	21229581	21229581	A	G	APOB	c.10159T>C	NM_000384.3	NP_000375.3:p.(Leu3387=)	NC_000002.11:g.21229581A>G	(Likely) benign	1 lab	78b3d01ba4
16:68862221 CDH1 A>G	16	68862221	68862221	A	G	CDH1	c.2295+14A>G	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68862221A>G	(Likely) benign	1 lab	78b80b9fda
3:75788260 ZNF717 C>A	3	75788260	75788260	C	A	ZNF717	c.514G>T	NM_001128223.3	NP_001121695.1:p.(Gly172Trp)	NC_000003.11:g.75788260C>A	(Likely) benign	1 lab	78b8787cb5
19:11224354 LDLR C>T	19	11224354	11224354	C	T	LDLR	c.1502C>T	NM_000527.5	NP_000518.1:p.(Ala501Val)	NC_000019.9:g.11224354C>T	(Likely) pathogenic	1 lab	78baaf576c
5:37169266 CPLANE1 C>T	5	37169266	37169266	C	T	CPLANE1	c.6860G>A	NM_023073.4	NP_075561.3:p.(Ser2287Asn)	NC_000005.9:g.37169266C>T	(Likely) benign	1 lab	78c0155d8d
9:107563227 ABCA1 T>C	9	107563227	107563227	T	C	ABCA1	c.4699-362A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107563227T>C	(Likely) benign	1 lab	78c17fa332
5:121406255 LOX A>G	5	121406255	121406255	A	G	LOX	c.1065T>C	NM_002317.7	NP_002308.2:p.(Tyr355=)	NC_000005.9:g.121406255A>G	(Likely) benign	1 lab	78c7d568e7
15:73614852 HCN4 T>C	15	73614852	73614852	T	C	HCN4	c.3582A>G	NM_005477.3	NP_005468.1:p.(Pro1194=)	NC_000015.9:g.73614852T>C	(Likely) benign	1 lab	78c7f5a704
2:44052122 ABCG5 C>G	2	44052122	44052122	C	G	ABCG5	c.810G>C	NM_022436.3	NP_071881.1:p.(Glu270Asp)	NC_000002.11:g.44052122C>G	VUS	1 lab	78cfe948e9
1:65830297 DNAJC6 GT>G	1	65830297	65830312	GT	G	DNAJC6	c.194-6del	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830312del	(Likely) benign	1 lab	78d2a5ff72
1:236714292 HEATR1 T>TA	1	236714292	236714310	T	TA	HEATR1	c.6347-3dup	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714310dup	(Likely) benign	1 lab	78d381c76d
9:137710827 COL5A1 C>T	9	137710827	137710827	C	T	COL5A1	c.4393-19C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710827C>T	(Likely) benign	1 lab	78dab2f484
15:48729226 FBN1 A>T	15	48729226	48729226	A	T	FBN1	c.6428T>A	NM_000138.5	NP_000129.3:p.(Ile2143Asn)	NC_000015.9:g.48729226A>T	(Likely) pathogenic	1 lab	78dbf276e4
16:89347445 ANKRD11 CA>C	16	89347445	89347446	CA	C	ANKRD11	c.5504del	NM_001256182.2	NP_001243111.1:p.(Leu1835ArgfsTer128)	NC_000016.9:g.89347446del	(Likely) pathogenic	1 lab	78df708090
15:48730208 FBN1 G>A	15	48730208	48730208	G	A	FBN1	c.6164-94C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48730208G>A	(Likely) benign	1 lab	78e3dfb0f0
16:15814022 MYH11 G>T	16	15814022	15814022	G	T	MYH11	c.4960C>A	NM_001040113.2	NP_001035202.1:p.(Leu1654Ile)	NC_000016.9:g.15814022G>T	VUS	1 lab	78e6dd78a6
6:32013122 TNXB G>T	6	32013122	32013122	G	T	TNXB	c.10601-19C>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32013122G>T	(Likely) benign	1 lab	78edef6699
1:68906651 RPE65 C>T	1	68906651	68906651	C	T	RPE65	c.528G>A	NM_000329.3	NP_000320.1:p.(Gly176=)	NC_000001.10:g.68906651C>T	(Likely) benign	1 lab	78ef5843ad
1:10428505 KIF1B C>A	1	10428505	10428505	C	A	KIF1B	c.4753-20C>A	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10428505C>A	(Likely) benign	1 lab	78ef887809
2:167137112 SCN9A G>GA	2	167137112	167137118	G	GA	SCN9A	c.2072-8dup	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167137118dup	(Likely) benign	1 lab	78f039d9aa
3:15493198 COLQ T>C	3	15493198	15493198	T	C	COLQ	c.1321A>G	NM_005677.4	NP_005668.2:p.(Thr441Ala)	NC_000003.11:g.15493198T>C	(Likely) pathogenic	1 lab	78fdd383b3
4:84497454 GPAT3 Ref too long to show for this DEL>C	4	84497454	84524530	Ref too long to show for this DEL	C	GPAT3	c.209-5260_1206-1291del	NM_032717.5	NP_116106.2:p.?	NC_000004.11:g.84497455_84524530del	VUS	1 lab	78fe1cf221
15:45406810 DUOXA2 C>CTG	15	45406810	45406814	C	CTG	DUOXA2	c.10_11dup	NM_207581.4	NP_997464.2:p.(Trp4CysfsTer27)	NC_000015.9:g.45406813_45406814dup	VUS	1 lab	790184a852
10:90988005 LIPA C>G	10	90988005	90988005	C	G	LIPA	c.380G>C	NM_001127605.3	NP_001121077.1:p.(Arg127Pro)	NC_000010.10:g.90988005C>G	VUS	1 lab	790185660e
8:134042151 TG C>T	8	134042151	134042151	C	T	TG	c.7122C>T	NM_003235.5	NP_003226.4:p.(Gly2374=)	NC_000008.10:g.134042151C>T	(Likely) benign	1 lab	7904111910
X:110644468 DCX G>A	X	110644468	110644468	G	A	DCX	c.698C>T	NM_000555.3	NP_000546.2:p.(Thr233Ile)	NC_000023.10:g.110644468G>A	VUS	1 lab	790a73d217
2:179452159 TTN A>G	2	179452159	179452159	A	G	TTN	c.63794-15T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179452159A>G	(Likely) benign	1 lab	790db0fbbb
11:117266617 MISSING C>Alt too long to show for this DUP	11	117266617	117343985	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.117266618_117343985dup	VUS	1 lab	790df3e882
18:6956656 LAMA1 C>T	18	6956656	6956656	C	T	LAMA1	c.8073G>A	NM_005559.4	NP_005550.2:p.(Leu2691=)	NC_000018.9:g.6956656C>T	(Likely) benign	1 lab	791061f7bf
12:33003926 PKP2 C>A	12	33003926	33003926	C	A	PKP2	c.1171-19G>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33003926C>A	(Likely) benign	1 lab	7914f9f04b
12:76780051 OSBPL8 T>TA	12	76780051	76780065	T	TA	OSBPL8	c.1435-6dup	NM_020841.5	NP_065892.1:p.?	NC_000012.11:g.76780065dup	(Likely) benign	1 lab	79153d0617
9:90254326 MISSING G>Alt too long to show for this DUP	9	90254326	90342268	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.90254330_90342268dup	VUS	1 lab	79186be750
9:137706007 COL5A1 C>A	9	137706007	137706007	C	A	COL5A1	c.3906+125C>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137706007C>A	(Likely) benign	1 lab	7921a7328f
19:11241810 LDLR G>A	19	11241810	11241810	G	A	LDLR	c.2548-147G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241810G>A	(Likely) benign	1 lab	7b24da34bc
12:33049672 PKP2 G>A	12	33049672	33049672	G	A	PKP2	c.-7C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33049672G>A	(Likely) benign	1 lab	792a43d38b
16:89816173 FANCA G>A	16	89816173	89816173	G	A	FANCA	c.3204C>T	NM_000135.4	NP_000126.2:p.(Ser1068=)	NC_000016.9:g.89816173G>A	(Likely) benign	1 lab	792ea94fd1
15:62174894 VPS13C A>G	15	62174894	62174894	A	G	VPS13C	c.9525T>C	NM_001018088.3	NP_001018098.1:p.(Ile3175=)	NC_000015.9:g.62174894A>G	(Likely) benign	1 lab	7930d24b4e
18:22010310 MISSING A>Alt too long to show for this DUP	18	22010310	22059380	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.22010311_22059380dup	VUS	1 lab	79325ba438
1:6530423 PLEKHG5 C>G	1	6530423	6530423	C	G	PLEKHG5	c.1681-8G>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530423C>G	(Likely) benign	1 lab	7939206a23
19:45451535 APOC2 A>G	19	45451535	45451535	A	G	APOC2	c.-13-188A>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451535A>G	(Likely) benign	1 lab	793a0d5cdb
1:197396874 CRB1 C>T	1	197396874	197396874	C	T	CRB1	c.2212C>T	NM_001257965.2	NP_001244894.1:p.(Leu738=)	NC_000001.10:g.197396874C>T	(Likely) benign	1 lab	793c1f276e
1:169493280 MISSING T>Alt too long to show for this DUP	1	169493280	169595862	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.169493282_169595862dup	VUS	1 lab	79425a5b2b
7:100641130 MUC12 C>T	7	100641130	100641130	C	T	MUC12	c.7286C>T	NM_001164462.1	NP_001157934.1:p.(Thr2429Met)	NC_000007.13:g.100641130C>T	(Likely) benign	1 lab	794548418b
1:244218471 ZBTB18 T>G	1	244218471	244218471	T	G	ZBTB18	c.1368T>G	NM_006352.4	NP_006343.2:p.(His456Gln)	NC_000001.10:g.244218471T>G	(Likely) pathogenic	1 lab	794633dbc8
9:2718075 KCNV2 C>T	9	2718075	2718075	C	T	KCNV2	c.336C>T	NM_133497.4	NP_598004.1:p.(Tyr112=)	NC_000009.11:g.2718075C>T	(Likely) benign	1 lab	7949df3c53
11:17415959 ABCC8 C>T	11	17415959	17415959	C	T	ABCC8	c.4415-13G>A	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17415959C>T	(Likely) pathogenic	1 lab	794a8c4016
2:179458304 TTN C>G	2	179458304	179458304	C	G	TTN	c.58723G>C	NM_001267550.2	NP_001254479.2:p.(Asp19575His)	NC_000002.11:g.179458304C>G	VUS	1 lab	7952c69a76
2:166170242 SCN2A C>G	2	166170242	166170242	C	G	SCN2A	c.1147C>G	NM_001040143.2	NP_001035233.1:p.(Gln383Glu)	NC_000002.11:g.166170242C>G	(Likely) pathogenic	1 lab	7957407618
18:29172910 TTR C>A	18	29172910	29172910	C	A	TTR	c.121C>A	NM_000371.4	NP_000362.1:p.(Arg41=)	NC_000018.9:g.29172910C>A	(Likely) benign	1 lab	7957905470
1:55524339 PCSK9 C>CGTGT	1	55524339	55524391	C	CGTGT	PCSK9	c.1503+68_1503+71dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524388_55524391dup	(Likely) benign	1 lab	795bd4f5e2
3:195452106 MUC20 C>T	3	195452106	195452106	C	T	MUC20	c.632C>T	NM_001282506.2	NP_001269435.1:p.(Ala211Val)	NC_000003.11:g.195452106C>T	(Likely) benign	1 lab	795f45f63d
5:127671400 FBN2 T>G	5	127671400	127671400	T	G	FBN2	c.3725-131A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127671400T>G	(Likely) benign	1 lab	7960775ad0
14:64595154 SYNE2 G>A	14	64595154	64595154	G	A	SYNE2	c.13918-16G>A	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64595154G>A	(Likely) benign	1 lab	7962acfd77
19:11055240 MISSING Ref too long to show for this DEL>G	19	11055240	11121784	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.11055241_11121784del	(Likely) pathogenic	1 lab	796904f991
8:10470573 RP1L1 C>T	8	10470573	10470573	C	T	RP1L1	c.1035G>A	NM_178857.6	NP_849188.4:p.(Arg345=)	NC_000008.10:g.10470573C>T	(Likely) benign	1 lab	7973fc8337
2:112725696 MERTK G>A	2	112725696	112725696	G	A	MERTK	c.845-18G>A	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112725696G>A	(Likely) benign	1 lab	797567f56f
2:241721999 KIF1A C>T	2	241721999	241721999	C	T	KIF1A	c.882+8G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241721999C>T	(Likely) benign	1 lab	7977f4b0fc
2:62069512 FAM161A A>T	2	62069512	62069512	A	T	FAM161A	c.184-17T>A	NM_001201543.2	NP_001188472.1:p.?	NC_000002.11:g.62069512A>T	(Likely) benign	1 lab	797c606ac9
20:35526320 SAMHD1 G>C	20	35526320	35526320	G	C	SAMHD1	c.1546C>G	NM_001363729.2	NP_001350658.1:p.(Arg516Gly)	NC_000020.10:g.35526320G>C	(Likely) pathogenic	1 lab	797fb5e475
11:45957292 PHF21A TA>T	11	45957292	45957315	TA	T	PHF21A	c.1682-3del	NM_001101802.3	NP_001095272.1:p.?	NC_000011.9:g.45957315del	(Likely) benign	1 lab	7981a0e79a
1:6530742 PLEKHG5 A>ACGGAG	1	6530742	6530748	A	ACGGAG	PLEKHG5	c.1543-44_1543-40dup	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530744_6530748dup	(Likely) benign	1 lab	798720c406
3:123411713 MYLK T>C	3	123411713	123411713	T	C	MYLK	c.3449-15A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123411713T>C	VUS	1 lab	7987265a4c
10:68940115 CTNNA3 C>A	10	68940115	68940115	C	A	CTNNA3	c.1007G>T	NM_013266.4	NP_037398.2:p.(Arg336Leu)	NC_000010.10:g.68940115C>A	VUS	1 lab	798bbbf818
7:105122891 PUS7 TAA>T	7	105122891	105122907	TAA	T	PUS7	c.921-6_921-5del	NM_019042.5	NP_061915.2:p.?	NC_000007.13:g.105122906_105122907del	(Likely) benign	1 lab	7991e25702
9:107555077 ABCA1 T>G	9	107555077	107555077	T	G	ABCA1	c.5747A>C	NM_005502.4	NP_005493.2:p.(Glu1916Ala)	NC_000009.11:g.107555077T>G	VUS	1 lab	79924a7b50
10:73157081 CDH23 C>T	10	73157081	73157081	C	T	CDH23	c.-6+6C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73157081C>T	(Likely) benign	1 lab	7994cf919a
3:38596786 SCN5A C>T	3	38596786	38596786	C	T	SCN5A	c.4542+361G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38596786C>T	(Likely) benign	1 lab	7996ce2279
17:17698721 RAI1 AG>A	17	17698721	17698723	AG	A	RAI1	c.2461del	NM_030665.4	NP_109590.3:p.(Glu821ArgfsTer129)	NC_000017.10:g.17698723del	(Likely) pathogenic	1 lab	799927e740
5:64272945 CWC27 T>C	5	64272945	64272945	T	C	CWC27	c.1153-17T>C	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64272945T>C	(Likely) benign	1 lab	799dbfa100
11:2620190 KCNQ1 Ref too long to show for this DEL>T	11	2620190	2623232	Ref too long to show for this DEL	T	KCNQ1	c.1393+10107_1393+13148del	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2620191_2623232del	VUS	1 lab	799e51390b
3:49694039 BSN C>T	3	49694039	49694039	C	T	BSN	c.7050C>T	NM_003458.4	NP_003449.2:p.(Ser2350=)	NC_000003.11:g.49694039C>T	(Likely) benign	1 lab	799ecc7be8
15:44613843 MISSING C>Alt too long to show for this DUP	15	44613843	44811366	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.44613844_44811366dup	VUS	1 lab	799ecfdfab
11:66460044 SPTBN2 G>A	11	66460044	66460044	G	A	SPTBN2	c.5153C>T	NM_006946.4	NP_008877.2:p.(Ala1718Val)	NC_000011.9:g.66460044G>A	VUS	1 lab	79ab3a87b3
10:90975649 LIPA G>A	10	90975649	90975649	G	A	LIPA	c.966+46C>T	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90975649G>A	(Likely) benign	1 lab	79b43c5b17
12:57430534 MYO1A CCT>C	12	57430534	57430540	CCT	C	MYO1A	c.2274+20_2274+21del	NM_001256041.2	NP_001242970.1:p.?	NC_000012.11:g.57430539_57430540del	(Likely) benign	1 lab	79ba4263ac
8:100115204 VPS13B C>T	8	100115204	100115204	C	T	VPS13B	c.436C>T	NM_017890.5	NP_060360.3:p.(Arg146Ter)	NC_000008.10:g.100115204C>T	(Likely) pathogenic	1 lab	79c20d29b8
1:235826383 LYST A>T	1	235826383	235826383	A	T	LYST	c.11268-5T>A	NM_001301365.1	NP_001288294.1:p.?	NC_000001.10:g.235826383A>T	(Likely) benign	1 lab	79c26679b7
2:179400525 TTN T>C	2	179400525	179400525	T	C	TTN	c.100817A>G	NM_001267550.2	NP_001254479.2:p.(His33606Arg)	NC_000002.11:g.179400525T>C	VUS	1 lab	79c5460ef7
18:47108746 LIPG A>C	18	47108746	47108746	A	C	LIPG	c.1051A>C	NM_006033.4	NP_006024.1:p.(Met351Leu)	NC_000018.9:g.47108746A>C	VUS	1 lab	79c61b936b
2:48025781 MSH6 A>G	2	48025781	48025781	A	G	MSH6	c.659A>G	NM_000179.3	NP_000170.1:p.(Glu220Gly)	NC_000002.11:g.48025781A>G	(Likely) benign	1 lab	79cc07e2d3
18:19348686 MIB1 A>G	18	19348686	19348686	A	G	MIB1	c.504A>G	NM_020774.4	NP_065825.1:p.(Gln168=)	NC_000018.9:g.19348686A>G	(Likely) benign	1 lab	79ce9fc71f
X:32235126 DMD T>C	X	32235126	32235126	T	C	DMD	c.6345A>G	NM_004006.3	NP_003997.2:p.(Ile2115Met)	NC_000023.10:g.32235126T>C	VUS	1 lab	79df37ce44
19:50905439 POLD1 G>C	19	50905439	50905439	G	C	POLD1	c.590-23G>C	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50905439G>C	(Likely) benign	1 lab	79e9a3dba3
17:70098236 MISSING Ref too long to show for this DEL>A	17	70098236	70156461	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.70098238_70156461del	(Likely) pathogenic	1 lab	79eef80dc3
9:107581964 ABCA1 G>A	9	107581964	107581964	G	A	ABCA1	c.3144C>T	NM_005502.4	NP_005493.2:p.(Val1048=)	NC_000009.11:g.107581964G>A	(Likely) benign	1 lab	79f8e078c7
5:52942237 NDUFS4 T>C	5	52942237	52942237	T	C	NDUFS4	c.350+2T>C	NM_002495.4	NP_002486.1:p.?	NC_000005.9:g.52942237T>C	(Likely) pathogenic	1 lab	79fbd79726
X:114880728 PLS3 A>G	X	114880728	114880728	A	G	PLS3	c.1384A>G	NM_005032.7	NP_005023.2:p.(Asn462Asp)	NC_000023.10:g.114880728A>G	VUS	1 lab	79fbd8b1ac
9:79890580 VPS13A G>A	9	79890580	79890580	G	A	VPS13A	c.2667+12G>A	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79890580G>A	(Likely) benign	1 lab	79fbe00df8
2:44569630 PREPL G>A	2	44569630	44569630	G	A	PREPL	c.678C>T	NM_006036.4	NP_006027.2:p.(Arg226=)	NC_000002.11:g.44569630G>A	(Likely) benign	1 lab	79fc81e35f
2:189868837 COL3A1 G>A	2	189868837	189868837	G	A	COL3A1	c.2791G>A	NM_000090.4	NP_000081.2:p.(Glu931Lys)	NC_000002.11:g.189868837G>A	(Likely) pathogenic	1 lab	7a00334585
2:179395913 TTN G>A	2	179395913	179395913	G	A	TTN	c.105429C>T	NM_001267550.2	NP_001254479.2:p.(Gly35143=)	NC_000002.11:g.179395913G>A	VUS	1 lab	7a0ad23683
1:25880525 LDLRAP1 G>A	1	25880525	25880525	G	A	LDLRAP1	c.201G>A	NM_015627.3	NP_056442.2:p.(Ser67=)	NC_000001.10:g.25880525G>A	(Likely) benign	1 lab	7a0bf08af1
6:7565490 DSP A>ATT	6	7565490	7565500	A	ATT	DSP	c.778-93_778-92dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565499_7565500dup	(Likely) benign	1 lab	7a0c709001
2:241706757 KIF1A T>C	2	241706757	241706757	T	C	KIF1A	c.1503A>G	NM_001244008.2	NP_001230937.1:p.(Pro501=)	NC_000002.11:g.241706757T>C	(Likely) benign	1 lab	7a142a3a20
12:33030829 PKP2 T>A	12	33030829	33030829	T	A	PKP2	c.985A>T	NM_001005242.3	NP_001005242.2:p.(Ser329Cys)	NC_000012.11:g.33030829T>A	VUS	1 lab	7a1f471874
2:179437621 TTN A>G	2	179437621	179437621	A	G	TTN	c.73238T>C	NM_001267550.2	NP_001254479.2:p.(Val24413Ala)	NC_000002.11:g.179437621A>G	VUS	1 lab	7a2692f55e
10:100189607 HPS1 CG>C	10	100189607	100189611	CG	C	HPS1	c.807del	NM_000195.5	NP_000186.2:p.(Val270CysfsTer61)	NC_000010.10:g.100189611del	(Likely) pathogenic	1 lab	7a284ebf43
7:44147513 AEBP1 C>T	7	44147513	44147513	C	T	AEBP1	c.845C>T	NM_001129.5	NP_001120.3:p.(Ala282Val)	NC_000007.13:g.44147513C>T	(Likely) benign	1 lab	7a28790a61
16:28884892 SH2B1 CAA>C	16	28884892	28884895	CAA	C	SH2B1	c.2024_2025del	NM_001308293.2	NP_001295222.1:p.(Lys675ArgfsTer22)	NC_000016.9:g.28884894_28884895del	VUS	1 lab	7a29dc3a5c
15:85403312 ALPK3 C>T	15	85403312	85403312	C	T	ALPK3	c.4129+9C>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85403312C>T	(Likely) benign	1 lab	7a401e3def
2:179442252 TTN A>T	2	179442252	179442252	A	T	TTN	c.61121-15T>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179442252A>T	(Likely) benign	1 lab	7a4029599f
3:123440970 MYLK C>A	3	123440970	123440970	C	A	MYLK	c.1804+5G>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123440970C>A	VUS	1 lab	7a41ac96fe
2:44072576 ABCG8 G>T	2	44072576	44072576	G	T	ABCG8	c.166-718G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44072576G>T	(Likely) benign	1 lab	7a45e44123
4:100543956 MTTP A>G	4	100543956	100543956	A	G	MTTP	c.2636A>G	NM_000253.4	NP_000244.2:p.(Lys879Arg)	NC_000004.11:g.100543956A>G	(Likely) benign	1 lab	7a462d8569
10:55568989 PCDH15 A>G	10	55568989	55568989	A	G	PCDH15	c.4836T>C	NM_001142769.3	NP_001136241.1:p.(Thr1612=)	NC_000010.10:g.55568989A>G	(Likely) benign	1 lab	7a4718e707
2:43793963 THADA T>TAA	2	43793963	43793979	T	TAA	THADA	c.2188-5_2188-4dup	NM_001083953.2	NP_001077422.1:p.?	NC_000002.11:g.43793978_43793979dup	(Likely) benign	1 lab	7a47d94b84
10:126686680 CTBP2 A>C	10	126686680	126686680	A	C	CTBP2	c.2038T>G	NM_022802.3	NP_073713.2:p.(Cys680Gly)	NC_000010.10:g.126686680A>C	(Likely) benign	1 lab	7a4e2d547d
6:44232738 NFKBIE TGTAA>T	6	44232738	44232744	TGTAA	T	NFKBIE	c.342_345del	NM_004556.3	NP_004547.3:p.(Tyr115SerfsTer13)	NC_000006.11:g.44232741_44232744del	(Likely) pathogenic	1 lab	7a53e11ff9
9:107565919 ABCA1 G>A	9	107565919	107565919	G	A	ABCA1	c.4560-322C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107565919G>A	(Likely) benign	1 lab	7a5456acb3
9:34506789 DNAI1 AT>A	9	34506789	34506792	AT	A	DNAI1	c.1243del	NM_001281428.2	NP_001268357.1:p.(Tyr415ThrfsTer56)	NC_000009.11:g.34506792del	(Likely) pathogenic	1 lab	7a597538d9
2:179481213 TTN C>T	2	179481213	179481213	C	T	TTN	c.48305G>A	NM_001267550.2	NP_001254479.2:p.(Trp16102Ter)	NC_000002.11:g.179481213C>T	(Likely) pathogenic	1 lab	7a59788735
6:165895829 PDE10A C>T	6	165895829	165895829	C	T	PDE10A	c.169G>A	NM_006661.4	NP_006652.1:p.(Glu57Lys)	NC_000006.11:g.165895829C>T	VUS	1 lab	7a59d9f439
8:24813803 NEFL A>G	8	24813803	24813803	A	G	NEFL	c.227T>C	NM_006158.5	NP_006149.2:p.(Val76Ala)	NC_000008.10:g.24813803A>G	(Likely) benign	1 lab	7a59ddf9ac
1:94566773 ABCA4 T>C	1	94566773	94566773	T	C	ABCA4	c.570+1798A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94566773T>C	(Likely) pathogenic	1 lab	7a621f2087
3:97486989 ARL6 TGAA>T	3	97486989	97486999	TGAA	T	ARL6	c.46_48del	NM_032146.5	NP_115522.1:p.(Lys16del)	NC_000003.11:g.97486997_97486999del	VUS	1 lab	7a62363b03
16:68845700 CDH1 A>G	16	68845700	68845700	A	G	CDH1	c.946A>G	NM_004360.5	NP_004351.1:p.(Met316Val)	NC_000016.9:g.68845700A>G	VUS	1 lab	7a6898620b
9:137708640 COL5A1 G>T	9	137708640	137708640	G	T	COL5A1	c.4123-232G>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137708640G>T	VUS	1 lab	7a6ac7b58e
16:15820618 MYH11 G>A	16	15820618	15820618	G	A	MYH11	c.3879+87C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15820618G>A	(Likely) benign	1 lab	7a6e14af5b
17:36499028 GPR179 C>T	17	36499028	36499028	C	T	GPR179	c.645G>A	NM_001004334.4	NP_001004334.3:p.(Pro215=)	NC_000017.10:g.36499028C>T	(Likely) benign	1 lab	7a724f27e5
11:48152185 PTPRJ C>T	11	48152185	48152185	C	T	PTPRJ	c.1532C>T	NM_002843.4	NP_002834.3:p.(Pro511Leu)	NC_000011.9:g.48152185C>T	VUS	1 lab	7a7bfe61b4
6:32052289 TNXB C>T	6	32052289	32052289	C	T	TNXB	c.3346G>A	NM_019105.8	NP_061978.6:p.(Val1116Ile)	NC_000006.11:g.32052289C>T	VUS	1 lab	7a7f4882c0
4:119644815 SEC24D G>GAA	4	119644815	119644825	G	GAA	SEC24D	c.2959-7_2959-6dup	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119644824_119644825dup	(Likely) benign	1 lab	7a7ff845d3
16:15815277 MYH11 A>G	16	15815277	15815277	A	G	MYH11	c.4578+2T>C	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15815277A>G	(Likely) pathogenic	1 lab	7a81bc45e5
13:32907149 BRCA2 C>T	13	32907149	32907149	C	T	BRCA2	c.1534C>T	NM_000059.4	NP_000050.3:p.(Pro512Ser)	NC_000013.10:g.32907149C>T	(Likely) benign	1 lab	7a826452c8
11:19204209 CSRP3 G>A	11	19204209	19204209	G	A	CSRP3	c.424C>T	NM_001369404.1	NP_001356333.1:p.(Arg142Cys)	NC_000011.9:g.19204209G>A	(Likely) benign	1 lab	7a8cbead49
15:40763700 CHST14 G>A	15	40763700	40763700	G	A	CHST14	c.288G>A	NM_130468.4	NP_569735.1:p.(Arg96=)	NC_000015.9:g.40763700G>A	(Likely) benign	1 lab	7a8fd71a78
6:70951103 COL9A1 A>C	6	70951103	70951103	A	C	COL9A1	c.2034+19T>G	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70951103A>C	(Likely) benign	1 lab	7a96634afd
15:43299422 UBR1 A>G	15	43299422	43299422	A	G	UBR1	c.3270T>C	NM_174916.3	NP_777576.1:p.(Val1090=)	NC_000015.9:g.43299422A>G	(Likely) benign	1 lab	7a988ef5d3
11:5246732 HBB A>G	11	5246732	5246732	A	G	HBB	c.*96T>C	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5246732A>G	(Likely) pathogenic	1 lab	7a98c32f1a
11:2594200 KCNQ1 C>T	11	2594200	2594200	C	T	KCNQ1	c.905C>T	NM_000218.3	NP_000209.2:p.(Ala302Val)	NC_000011.9:g.2594200C>T	(Likely) pathogenic	1 lab	7a9a6e5671
4:100504668 MTTP T>C	4	100504668	100504668	T	C	MTTP	c.387T>C	NM_000253.4	NP_000244.2:p.(His129=)	NC_000004.11:g.100504668T>C	(Likely) benign	1 lab	7a9bf658be
4:57777038 REST G>T	4	57777038	57777038	G	T	REST	c.234G>T	NM_005612.5	NP_005603.3:p.(Pro78=)	NC_000004.11:g.57777038G>T	(Likely) benign	1 lab	7ab4a29384
20:1592355 SIRPB1 T>C	20	1592355	1592355	T	C	SIRPB1	c.81A>G	NM_001135844.4	NP_001129316.1:p.(Val27=)	NC_000020.10:g.1592355T>C	(Likely) benign	1 lab	7ab6007ad7
11:129784764 PRDM10 C>T	11	129784764	129784764	C	T	PRDM10	c.2688G>A	NM_020228.3	NP_064613.2:p.(Thr896=)	NC_000011.9:g.129784764C>T	(Likely) benign	1 lab	7abae1fe6f
2:1637979 PXDN G>A	2	1637979	1637979	G	A	PXDN	c.4437C>T	NM_012293.3	NP_036425.1:p.(Pro1479=)	NC_000002.11:g.1637979G>A	(Likely) benign	1 lab	7abbf167a5
10:92677560 ANKRD1 A>G	10	92677560	92677560	A	G	ANKRD1	c.481T>C	NM_014391.3	NP_055206.2:p.(Cys161Arg)	NC_000010.10:g.92677560A>G	VUS	1 lab	7ac851de6a
11:116661826 APOA5 T>C	11	116661826	116661826	T	C	APOA5	c.162-43A>G	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116661826T>C	(Likely) benign	1 lab	7ac9634d54
11:77823732 ALG8 A>G	11	77823732	77823732	A	G	ALG8	c.862T>C	NM_001007027.3	NP_001007028.1:p.(Leu288=)	NC_000011.9:g.77823732A>G	(Likely) benign	1 lab	7acbcb00d3
15:40502335 BUB1B G>T	15	40502335	40502335	G	T	BUB1B	c.2309G>T	NM_001211.6	NP_001202.5:p.(Arg770Leu)	NC_000015.9:g.40502335G>T	VUS	1 lab	7ad06db65a
11:9810714 SBF2 C>T	11	9810714	9810714	C	T	SBF2	c.4874G>A	NM_030962.4	NP_112224.1:p.(Trp1625Ter)	NC_000011.9:g.9810714C>T	(Likely) pathogenic	1 lab	7ad0fa08fd
14:64574341 SYNE2 T>C	14	64574341	64574341	T	C	SYNE2	c.12609+16T>C	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64574341T>C	(Likely) benign	1 lab	7ad22387ac
19:45411938 APOE G>A	19	45411938	45411938	G	A	APOE	c.463G>A	NM_001302688.2	NP_001289617.1:p.(Val155Met)	NC_000019.9:g.45411938G>A	VUS	1 lab	7ad31e74b8
X:130409038 IGSF1 TA>T	X	130409038	130409041	TA	T	IGSF1	c.3421del	NM_001170961.2	NP_001164432.1:p.(Tyr1141IlefsTer21)	NC_000023.10:g.130409041del	(Likely) pathogenic	1 lab	7ad678ee82
2:44049872 ABCG5 C>T	2	44049872	44049872	C	T	ABCG5	c.1463+64G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049872C>T	(Likely) benign	1 lab	7ad9126c42
10:13323113 PHYH G>T	10	13323113	13323113	G	T	PHYH	c.529-3C>A	NM_001323080.2	NP_001310009.1:p.?	NC_000010.10:g.13323113G>T	VUS	1 lab	7ae03fa50a
10:3868391 MISSING Ref too long to show for this DEL>G	10	3868391	3951782	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.3868392_3951782del	VUS	1 lab	7ae7d8c589
2:179833087 CCDC141 A>Alt too long to show for this DUP	2	179833087	179871214	A	Alt too long to show for this DUP	CCDC141	c.226-27811_526+6696dup	NM_173648.4	NP_775919.3:p.?	NC_000002.11:g.179833089_179871214dup	VUS	1 lab	7ae976a390
14:23885015 MYH7 T>G	14	23885015	23885015	T	G	MYH7	c.4980A>C	NM_000257.4	NP_000248.2:p.(Ala1660=)	NC_000014.8:g.23885015T>G	(Likely) benign	1 lab	7ae9f5c071
16:77389923 ADAMTS18 G>C	16	77389923	77389923	G	C	ADAMTS18	c.1374C>G	NM_199355.4	NP_955387.1:p.(Gly458=)	NC_000016.9:g.77389923G>C	(Likely) benign	1 lab	7aeb28e7ef
3:195984764 PCYT1A G>A	3	195984764	195984764	G	A	PCYT1A	c.118-6C>T	NM_005017.4	NP_005008.2:p.?	NC_000003.11:g.195984764G>A	(Likely) benign	1 lab	7aee39bec0
1:109492478 CLCC1 T>C	1	109492478	109492478	T	C	CLCC1	c.195A>G	NM_001377459.1	NP_001364388.1:p.(Ser65=)	NC_000001.10:g.109492478T>C	(Likely) benign	1 lab	7af2c67d30
2:220283489 DES T>C	2	220283489	220283489	T	C	DES	c.305T>C	NM_001927.4	NP_001918.3:p.(Leu102Pro)	NC_000002.11:g.220283489T>C	VUS	1 lab	7af632b1f5
16:57004996 CETP G>A	16	57004996	57004996	G	A	CETP	c.579G>A	NM_000078.3	NP_000069.2:p.(Lys193=)	NC_000016.9:g.57004996G>A	(Likely) benign	1 lab	7aff22d321
3:49163927 LAMB2 G>C	3	49163927	49163927	G	C	LAMB2	c.2022C>G	NM_002292.4	NP_002283.3:p.(Tyr674Ter)	NC_000003.11:g.49163927G>C	(Likely) pathogenic	1 lab	7b06268aba
15:93323948 MISSING Ref too long to show for this DEL>A	15	93323948	93764774	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.93323949_93764774del	(Likely) pathogenic	1 lab	7b0ec2d118
10:61815712 ANK3 T>C	10	61815712	61815712	T	C	ANK3	c.12769A>G	NM_020987.5	NP_066267.2:p.(Ile4257Val)	NC_000010.10:g.61815712T>C	(Likely) benign	1 lab	7b0f584e55
2:149247143 MBD5 T>A	2	149247143	149247143	T	A	MBD5	c.3243T>A	NM_018328.5	NP_060798.2:p.(Gly1081=)	NC_000002.11:g.149247143T>A	(Likely) benign	1 lab	7b108dd437
4:114264154 ANK2 T>G	4	114264154	114264154	T	G	ANK2	c.4264-19T>G	NM_001386174.1	NP_001373103.1:p.?	NC_000004.11:g.114264154T>G	(Likely) benign	1 lab	7b10d05cae
9:107552924 ABCA1 A>G	9	107552924	107552924	A	G	ABCA1	c.5927+279T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107552924A>G	(Likely) benign	1 lab	7b19854a31
1:201328341 TNNT2 T>C	1	201328341	201328341	T	C	TNNT2	c.864A>G	NM_001276347.2	NP_001263276.1:p.(Lys288=)	NC_000001.10:g.201328341T>C	(Likely) benign	1 lab	7b1a8f8c8b
5:140056377 HARS1 C>T	5	140056377	140056377	C	T	HARS1	c.1056G>A	NM_002109.6	NP_002100.2:p.(Leu352=)	NC_000005.9:g.140056377C>T	VUS	1 lab	7b2194ca38
8:144298585 GPIHBP1 AG>A	8	144298585	144298586	AG	A	GPIHBP1	c.376-299del	NM_001301772.2	NP_001288701.1:p.?	NC_000008.10:g.144298586del	(Likely) benign	1 lab	7b240c901f
4:187005868 TLR3 T>G	4	187005868	187005868	T	G	TLR3	c.2556T>G	NM_003265.3	NP_003256.1:p.(Leu852=)	NC_000004.11:g.187005868T>G	(Likely) benign	1 lab	7b24bc1304
2:113984778 PAX8 G>A	2	113984778	113984778	G	A	PAX8	c.1064C>T	NM_013952.4	NP_039246.1:p.(Ala355Val)	NC_000002.11:g.113984778G>A	(Likely) benign	1 lab	7b2b8b0649
11:116706822 APOA1 C>T	11	116706822	116706822	C	T	APOA1	c.506G>A	NM_000039.3	NP_000030.1:p.(Gly169Asp)	NC_000011.9:g.116706822C>T	(Likely) benign	1 lab	7b2e6f86fc
11:116706871 APOA1 C>A	11	116706871	116706871	C	A	APOA1	c.457G>T	NM_000039.3	NP_000030.1:p.(Gly153Cys)	NC_000011.9:g.116706871C>A	(Likely) pathogenic	1 lab	7b3b1da720
1:161278203 MPZ G>A	1	161278203	161278203	G	A	MPZ	c.68-989C>T	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161278203G>A	(Likely) benign	1 lab	7b3cecdebb
19:50918758 POLD1 C>T	19	50918758	50918758	C	T	POLD1	c.2628C>T	NM_001256849.1	NP_001243778.1:p.(Ile876=)	NC_000019.9:g.50918758C>T	(Likely) benign	1 lab	7b3de775fe
4:16192789 TAPT1 C>T	4	16192789	16192789	C	T	TAPT1	c.612+195G>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16192789C>T	(Likely) benign	1 lab	7b409dcf5f
2:27303755 EMILIN1 A>G	2	27303755	27303755	A	G	EMILIN1	c.446=	NM_007046.4	NP_008977.1:p.(Arg149=)	NC_000002.11:g.27303755A>G	(Likely) benign	1 lab	7b4bb0333b
X:99874067 MISSING A>Alt too long to show for this DUP	X	99874067	99884828	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.99874068_99884828dup	VUS	1 lab	7b4e590c30
15:73615582 HCN4 C>T	15	73615582	73615582	C	T	HCN4	c.2852G>A	NM_005477.3	NP_005468.1:p.(Gly951Asp)	NC_000015.9:g.73615582C>T	VUS	1 lab	7b4f9e502b
15:28090135 OCA2 C>A	15	28090135	28090135	C	A	OCA2	c.2402G>T	NM_000275.3	NP_000266.2:p.(Gly801Val)	NC_000015.9:g.28090135C>A	VUS	1 lab	7b53d47e7d
7:145491 MISSING Ref too long to show for this DEL>A	7	145491	214481	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.145493_214481del	(Likely) pathogenic	1 lab	7b5b51f6a9
6:32546885 HLA-DRB1 CA>C	6	32546885	32546889	CA	C	HLA-DRB1	c.788-5del	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32546889del	(Likely) benign	1 lab	7b5d4cc8eb
3:195969421 PCYT1A C>G	3	195969421	195969421	C	G	PCYT1A	c.565+12G>C	NM_005017.4	NP_005008.2:p.?	NC_000003.11:g.195969421C>G	(Likely) benign	1 lab	7b6c787a1f
12:125299614 SCARB1 C>T	12	125299614	125299614	C	T	SCARB1	c.331G>A	NM_001367981.1	NP_001354910.1:p.(Val111Met)	NC_000012.11:g.125299614C>T	VUS	1 lab	7b6ec55c43
19:11221411 LDLR G>T	19	11221411	11221411	G	T	LDLR	c.1024G>T	NM_000527.5	NP_000518.1:p.(Asp342Tyr)	NC_000019.9:g.11221411G>T	VUS	1 lab	7b7323c667
1:40768483 COL9A2 TGGAGGGAG>T	1	40768483	40768507	TGGAGGGAG	T	COL9A2	c.1604-10_1604-3del	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40768500_40768507del	(Likely) benign	1 lab	7b77b48a5a
13:49841976 CDADC1 Ref too long to show for this DEL>G	13	49841976	49867516	Ref too long to show for this DEL	G	CDADC1	c.784_*1623del	NM_030911.4	NP_112173.1:p.(Asn262_His514delinsGlyLysIleGlyIleSerThrValLeuLeuArgGluAla)	NC_000013.10:g.49841979_49867516del	VUS	1 lab	7b77c9caa5
3:75788105 ZNF717 C>T	3	75788105	75788105	C	T	ZNF717	c.669G>A	NM_001128223.3	NP_001121695.1:p.(Met223Ile)	NC_000003.11:g.75788105C>T	(Likely) benign	1 lab	7b793b6d23
X:153246670 MISSING C>Alt too long to show for this DUP	X	153246670	153609163	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153246671_153609163dup	(Likely) pathogenic	1 lab	7b7cdc147f
1:12052735 MFN2 C>G	1	12052735	12052735	C	G	MFN2	c.299C>G	NM_014874.4	NP_055689.1:p.(Ala100Gly)	NC_000001.10:g.12052735C>G	(Likely) pathogenic	1 lab	7b85b1cdb6
5:37292091 MISSING C>Alt too long to show for this DUP	5	37292091	37970512	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.37292092_37970512dup	VUS	1 lab	7b86d4a099
18:48604670 SMAD4 T>C	18	48604670	48604670	T	C	SMAD4	c.1492T>C	NM_005359.6	NP_005350.1:p.(Leu498=)	NC_000018.9:g.48604670T>C	(Likely) benign	1 lab	7b87721d7e
8:55539267 RP1 C>T	8	55539267	55539267	C	T	RP1	c.2825C>T	NM_006269.2	NP_006260.1:p.(Thr942Met)	NC_000008.10:g.55539267C>T	(Likely) benign	1 lab	7b8aef27eb
18:77208922 NFATC1 C>T	18	77208922	77208922	C	T	NFATC1	c.1527C>T	NM_001278669.2	NP_001265598.1:p.(Ala509=)	NC_000018.9:g.77208922C>T	(Likely) benign	1 lab	7b8de4e8ee
3:4517063 MISSING Ref too long to show for this DEL>C	3	4517063	10841263	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.4517064_10841263del	(Likely) pathogenic	1 lab	7b8e0ee6a4
14:23866366 MYH6 T>C	14	23866366	23866366	T	C	MYH6	c.2050+13A>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23866366T>C	(Likely) benign	1 lab	7b8ec87329
19:11227561 LDLR G>A	19	11227561	11227561	G	A	LDLR	c.1732G>A	NM_000527.5	NP_000518.1:p.(Val578Ile)	NC_000019.9:g.11227561G>A	VUS	1 lab	7bba4fb670
16:72142775 DHX38 Ref too long to show for this DEL>G	16	72142775	72143737	Ref too long to show for this DEL	G	DHX38	c.3334_3477+328del	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72142777_72143737del	VUS	1 lab	7b90323e15
2:238274533 COL6A3 C>CGAGCG	2	238274533	238274539	C	CGAGCG	COL6A3	c.5641_5645dup	NM_004369.4	NP_004360.2:p.(Pro1883AlafsTer50)	NC_000002.11:g.238274535_238274539dup	(Likely) pathogenic	1 lab	7b906011a3
19:47259262 FKRP C>G	19	47259262	47259262	C	G	FKRP	c.555C>G	NM_001039885.3	NP_001034974.1:p.(Ala185=)	NC_000019.9:g.47259262C>G	(Likely) benign	1 lab	7b9503d248
17:39913724 JUP G>A	17	39913724	39913724	G	A	JUP	c.1989C>T	NM_002230.4	NP_002221.1:p.(Arg663=)	NC_000017.10:g.39913724G>A	(Likely) benign	1 lab	7b96417358
18:21140382 NPC1 CCACAGA>C	18	21140382	21140389	CCACAGA	C	NPC1	c.688_693del	NM_000271.5	NP_000262.2:p.(Ser230_Val231del)	NC_000018.9:g.21140384_21140389del	(Likely) pathogenic	1 lab	7b9a2539af
9:113173717 SVEP1 T>C	9	113173717	113173717	T	C	SVEP1	c.6274A>G	NM_153366.4	NP_699197.3:p.(Ser2092Gly)	NC_000009.11:g.113173717T>C	(Likely) benign	1 lab	7b9f23e1f4
16:83948787 MLYCD G>A	16	83948787	83948787	G	A	MLYCD	c.1175G>A	NM_012213.3	NP_036345.2:p.(Arg392Gln)	NC_000016.9:g.83948787G>A	(Likely) benign	1 lab	7ba2a908d2
17:19564462 ALDH3A2 AAG>A	17	19564462	19564466	AAG	A	ALDH3A2	c.824_825del	NM_001031806.2	NP_001026976.1:p.(Glu275ValfsTer3)	NC_000017.10:g.19564465_19564466del	(Likely) pathogenic	1 lab	7ba7d491a7
11:116708240 APOA1 G>T	11	116708240	116708240	G	T	APOA1	c.-21+4C>A	NM_001318017.2	NP_001304946.1:p.?	NC_000011.9:g.116708240G>T	VUS	1 lab	7ba7d81ded
11:68707098 IGHMBP2 C>T	11	68707098	68707098	C	T	IGHMBP2	c.2881C>T	NM_002180.3	NP_002171.2:p.(Leu961=)	NC_000011.9:g.68707098C>T	(Likely) benign	1 lab	7baa02048a
2:21224767 APOB G>T	2	21224767	21224767	G	T	APOB	c.13527C>A	NM_000384.3	NP_000375.3:p.(Tyr4509Ter)	NC_000002.11:g.21224767G>T	(Likely) pathogenic	1 lab	7bab6d4577
2:233199418 DIS3L2 C>T	2	233199418	233199418	C	T	DIS3L2	c.2367C>T	NM_152383.5	NP_689596.4:p.(Tyr789=)	NC_000002.11:g.233199418C>T	(Likely) benign	1 lab	7badc2648b
16:67973944 LCAT G>C	16	67973944	67973944	G	C	LCAT	c.1186C>G	NM_000229.2	NP_000220.1:p.(Leu396Val)	NC_000016.9:g.67973944G>C	VUS	1 lab	7bae298dac
8:1893676 ARHGEF10 C>A	8	1893676	1893676	C	A	ARHGEF10	c.3324C>A	NM_001308153.2	NP_001295082.1:p.(Gly1108=)	NC_000008.10:g.1893676C>A	(Likely) benign	1 lab	7bb437486e
7:98579570 TRRAP C>T	7	98579570	98579570	C	T	TRRAP	c.8738C>T	NM_003496.4	NP_003487.1:p.(Thr2913Met)	NC_000007.13:g.98579570C>T	VUS	1 lab	7bbe2fc366
15:42695128 CAPN3 C>T	15	42695128	42695128	C	T	CAPN3	c.1673C>T	NM_000070.3	NP_000061.1:p.(Pro558Leu)	NC_000015.9:g.42695128C>T	VUS	1 lab	7bc1df9b03
12:56913583 MISSING A>Alt too long to show for this DUP	12	56913583	56963480	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.56913584_56963480dup	VUS	1 lab	7bc5914a24
17:4937575 SLC52A1 T>C	17	4937575	4937575	T	C	SLC52A1	c.209A>G	NM_001104577.2	NP_001098047.1:p.(Gln70Arg)	NC_000017.10:g.4937575T>C	(Likely) benign	1 lab	7bc768cfb3
1:55525280 PCSK9 C>T	1	55525280	55525280	C	T	PCSK9	c.1625C>T	NM_174936.4	NP_777596.2:p.(Ala542Val)	NC_000001.10:g.55525280C>T	VUS	1 lab	7bcf38faf5
12:6777069 ZNF384 T>TTGC	12	6777069	6777113	T	TTGC	ZNF384	c.1542_1544dup	NM_001135734.3	NP_001129206.1:p.(Gln516dup)	NC_000012.11:g.6777111_6777113dup	(Likely) benign	1 lab	7bcfacc60a
7:106897201 COG5 C>T	7	106897201	106897201	C	T	COG5	c.1725G>A	NM_001161520.2	NP_001154992.2:p.(Glu575=)	NC_000007.13:g.106897201C>T	(Likely) benign	1 lab	7bd184816b
15:58724309 LIPC C>G	15	58724309	58724309	C	G	LIPC	c.78C>G	NM_000236.3	NP_000227.2:p.(Ser26Arg)	NC_000015.9:g.58724309C>G	VUS	1 lab	7bd4ca45ea
1:201338973 TNNT2 T>A	1	201338973	201338973	T	A	TNNT2	c.68A>T	NM_001276345.2	NP_001263274.1:p.(Glu23Val)	NC_000001.10:g.201338973T>A	VUS	1 lab	7bd74c6d76
12:50502917 GPD1 C>CAAAAAA	12	50502917	50502941	C	CAAAAAA	GPD1	c.954-270_954-265dup	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502936_50502941dup	(Likely) benign	1 lab	7bd751e6d1
1:10342522 KIF1B G>A	1	10342522	10342522	G	A	KIF1B	c.1227G>A	NM_015074.3	NP_055889.2:p.(Thr409=)	NC_000001.10:g.10342522G>A	(Likely) benign	1 lab	7bdb107b9c
14:42124437 LRFN5 Ref too long to show for this DEL>G	14	42124437	42186129	Ref too long to show for this DEL	G	LRFN5	c.-197+46673_-196-49928del	NM_152447.5	NP_689660.2:p.?	NC_000014.8:g.42124438_42186129del	VUS	1 lab	7bdc44e6d7
17:62020259 SCN4A G>A	17	62020259	62020259	G	A	SCN4A	c.4215C>T	NM_000334.4	NP_000325.4:p.(Leu1405=)	NC_000017.10:g.62020259G>A	(Likely) benign	1 lab	7be18f742d
17:36482769 GPR179 T>G	17	36482769	36482769	T	G	GPR179	c.6683A>C	NM_001004334.4	NP_001004334.3:p.(Asp2228Ala)	NC_000017.10:g.36482769T>G	VUS	1 lab	7be69bcd80
2:27668302 IFT172 TTCTC>T	2	27668302	27668310	TTCTC	T	IFT172	c.4925_4928del	NM_015662.3	NP_056477.1:p.(Arg1642LysfsTer32)	NC_000002.11:g.27668307_27668310del	(Likely) pathogenic	1 lab	7be8f24694
7:81359051 HGF C>T	7	81359051	81359051	C	T	HGF	c.910G>A	NM_000601.6	NP_000592.3:p.(Glu304Lys)	NC_000007.13:g.81359051C>T	(Likely) benign	1 lab	7bebbbe215
2:21229235 APOB C>G	2	21229235	21229235	C	G	APOB	c.10505G>C	NM_000384.3	NP_000375.3:p.(Gly3502Ala)	NC_000002.11:g.21229235C>G	VUS	1 lab	7bf314ad57
9:137534045 COL5A1 T>C	9	137534045	137534045	T	C	COL5A1	c.12T>C	NM_000093.5	NP_000084.3:p.(His4=)	NC_000009.11:g.137534045T>C	(Likely) benign	1 lab	7bf3721a02
15:72039171 THSD4 A>G	15	72039171	72039171	A	G	THSD4	c.2037-6A>G	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72039171A>G	(Likely) benign	1 lab	7bf6700a18
3:123456208 MYLK C>T	3	123456208	123456208	C	T	MYLK	c.754+17G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123456208C>T	(Likely) benign	1 lab	7bfd8f4214
17:48271498 COL1A1 C>A	17	48271498	48271498	C	A	COL1A1	c.1661G>T	NM_000088.4	NP_000079.2:p.(Gly554Val)	NC_000017.10:g.48271498C>A	(Likely) pathogenic	1 lab	7c05642d67
19:11240196 LDLR C>CGTCTTCCTTTGCCTGGGG	19	11240196	11240223	C	CGTCTTCCTTTGCCTGGGG	LDLR	c.2407_2424dup	NM_000527.5	NP_000518.1:p.(Cys803_Leu808dup)	NC_000019.9:g.11240206_11240223dup	VUS	1 lab	7c0964a29f
X:106894094 MISSING T>Alt too long to show for this DUP	X	106894094	106921285	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.106894096_106921285dup	VUS	1 lab	7c0cf8c700
8:19819213 LPL CAAAA>C	8	19819213	19819224	CAAAA	C	LPL	c.1323-405_1323-402del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819221_19819224del	(Likely) benign	1 lab	7c0d71c025
4:95912012 BMPR1B Ref too long to show for this DEL>T	4	95912012	95957551	Ref too long to show for this DEL	T	BMPR1B	c.-112-5178_-18+40266del	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.95912013_95957551del	VUS	1 lab	7c12a091b0
11:108202221 ATM A>G	11	108202221	108202221	A	G	ATM	c.7566A>G	NM_000051.4	NP_000042.3:p.(Gln2522=)	NC_000011.9:g.108202221A>G	VUS	1 lab	7c1359119c
X:41204578 DDX3X G>A	X	41204578	41204578	G	A	DDX3X	c.1170+1G>A	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41204578G>A	(Likely) pathogenic	1 lab	7c22344d40
18:29118905 DSG2 A>G	18	29118905	29118905	A	G	DSG2	c.1843A>G	NM_001943.5	NP_001934.2:p.(Ile615Val)	NC_000018.9:g.29118905A>G	VUS	1 lab	7c2349da79
5:36984861 NIPBL G>T	5	36984861	36984861	G	T	NIPBL	c.1579G>T	NM_015384.5	NP_056199.2:p.(Glu527Ter)	NC_000005.9:g.36984861G>T	(Likely) pathogenic	1 lab	7c2fca59a5
13:37441423 SMAD9 C>T	13	37441423	37441423	C	T	SMAD9	c.768G>A	NM_001127217.3	NP_001120689.1:p.(Ser256=)	NC_000013.10:g.37441423C>T	(Likely) benign	1 lab	7c30dd5f1d
14:23859358 MYH6 G>A	14	23859358	23859358	G	A	MYH6	c.3640C>T	NM_002471.4	NP_002462.2:p.(Arg1214Trp)	NC_000014.8:g.23859358G>A	VUS	1 lab	7c37ffac40
2:179604821 TTN T>C	2	179604821	179604821	T	C	TTN	c.12188A>G	NM_001256850.1	NP_001243779.1:p.(Lys4063Arg)	NC_000002.11:g.179604821T>C	VUS	1 lab	7c39d71753
1:25889539 LDLRAP1 A>G	1	25889539	25889539	A	G	LDLRAP1	c.533-22A>G	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889539A>G	(Likely) benign	1 lab	7c3b5025f2
7:30643152 GARS1 C>T	7	30643152	30643152	C	T	GARS1	c.537C>T	NM_001316772.1	NP_001303701.1:p.(Val179=)	NC_000007.13:g.30643152C>T	(Likely) benign	1 lab	7c411ef3d5
15:45437127 DUOX1 C>T	15	45437127	45437127	C	T	DUOX1	c.2171C>T	NM_017434.5	NP_059130.2:p.(Ala724Val)	NC_000015.9:g.45437127C>T	(Likely) benign	1 lab	7c49a4609e
17:56439977 RNF43 C>T	17	56439977	56439977	C	T	RNF43	c.615G>A	NM_017763.6	NP_060233.3:p.(Val205=)	NC_000017.10:g.56439977C>T	(Likely) benign	1 lab	7c55ec3f5f
5:7897217 MTRR T>A	5	7897217	7897217	T	A	MTRR	c.1809T>A	NM_002454.3	NP_002445.2:p.(Thr603=)	NC_000005.9:g.7897217T>A	(Likely) benign	1 lab	7c5c9f9d24
18:13592467 MISSING Ref too long to show for this DEL>G	18	13592467	15124636	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.13592470_15124636del	(Likely) pathogenic	1 lab	7c5ef4fb4b
X:154938689 MISSING Ref too long to show for this DEL>A	X	154938689	155193411	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.154938690_155193411del	(Likely) pathogenic	1 lab	7c64ef6776
2:21252365 APOB GAGGA>G	2	21252365	21252394	GAGGA	G	APOB	c.1617+142_1617+145del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252391_21252394del	(Likely) benign	1 lab	7c6696d206
20:21112810 KIZ G>A	20	21112810	21112810	G	A	KIZ	c.152+10G>A	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21112810G>A	(Likely) benign	1 lab	7c693ad3af
1:78394996 NEXN G>C	1	78394996	78394996	G	C	NEXN	c.865-5G>C	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78394996G>C	(Likely) benign	1 lab	7c6a15f7de
3:38743551 SCN10A T>G	3	38743551	38743551	T	G	SCN10A	c.4436A>C	NM_006514.4	NP_006505.4:p.(Asp1479Ala)	NC_000003.11:g.38743551T>G	VUS	1 lab	7c6d209b7b
5:148406483 SH3TC2 G>A	5	148406483	148406483	G	A	SH3TC2	c.2812C>T	NM_024577.4	NP_078853.2:p.(His938Tyr)	NC_000005.9:g.148406483G>A	(Likely) benign	1 lab	7c6da5568a
11:47356168 MYBPC3 A>G	11	47356168	47356168	A	G	MYBPC3	c.2905+425T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356168A>G	(Likely) benign	1 lab	7c6dd83eb9
8:134128968 TG G>A	8	134128968	134128968	G	A	TG	c.7862+8G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134128968G>A	(Likely) benign	1 lab	7c721ed375
12:122243875 SETD1B C>T	12	122243875	122243875	C	T	SETD1B	c.408C>T	NM_001353345.2	NP_001340274.1:p.(Tyr136=)	NC_000012.11:g.122243875C>T	(Likely) benign	1 lab	7c7a3e9476
21:10942933 TPTE C>G	21	10942933	10942933	C	G	TPTE	c.240G>C	NM_001290224.2	NP_001277153.2:p.(Leu80=)	NC_000021.8:g.10942933C>G	(Likely) benign	1 lab	7c7eea4171
12:2224728 CACNA1C G>A	12	2224728	2224728	G	A	CACNA1C	c.371+17G>A	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2224728G>A	(Likely) benign	1 lab	7c81ac188f
8:41790039 KAT6A C>A	8	41790039	41790039	C	A	KAT6A	c.5699G>T	NM_006766.5	NP_006757.2:p.(Gly1900Val)	NC_000008.10:g.41790039C>A	VUS	1 lab	7c886a43c5
9:107576739 ABCA1 G>C	9	107576739	107576739	G	C	ABCA1	c.3756C>G	NM_005502.4	NP_005493.2:p.(Ala1252=)	NC_000009.11:g.107576739G>C	(Likely) benign	1 lab	7c89971301
20:10626157 JAG1 C>T	20	10626157	10626157	C	T	JAG1	c.2000-40G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10626157C>T	(Likely) benign	1 lab	7c89b246f2
1:155650043 YY1AP1 A>G	1	155650043	155650043	A	G	YY1AP1	c.435+164T>C	NM_001198903.1	NP_001185832.1:p.?	NC_000001.10:g.155650043A>G	(Likely) benign	1 lab	7c9025759f
1:879422 SAMD11 G>T	1	879422	879422	G	T	SAMD11	c.1935G>T	NM_152486.4	NP_689699.3:p.(Thr645=)	NC_000001.10:g.879422G>T	(Likely) benign	1 lab	7c91052839
7:99301693 MISSING Ref too long to show for this DEL>T	7	99301693	99341093	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.99301694_99341093del	VUS	1 lab	7c96c4c918
19:55317506 KIR2DL4 C>G	19	55317506	55317506	C	G	KIR2DL4	c.462C>G	NM_001080772.2	NP_001074241.1:p.(Ile154Met)	NC_000019.9:g.55317506C>G	(Likely) benign	1 lab	7c97684c72
6:75823666 COL12A1 A>G	6	75823666	75823666	A	G	COL12A1	c.7698-206T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75823666A>G	(Likely) benign	1 lab	7c98e1146c
5:150668620 SLC36A3 CAA>C	5	150668620	150668634	CAA	C	SLC36A3	c.405-5_405-4del	NM_001145017.2	NP_001138489.1:p.?	NC_000005.9:g.150668633_150668634del	(Likely) benign	1 lab	7c9af4a778
11:108224552 ATM A>T	11	108224552	108224552	A	T	ATM	c.8731A>T	NM_000051.4	NP_000042.3:p.(Thr2911Ser)	NC_000011.9:g.108224552A>T	VUS	1 lab	7c9f75adb7
15:23891694 MAGEL2 G>C	15	23891694	23891694	G	C	MAGEL2	c.1196C>G	NM_019066.5	NP_061939.3:p.(Pro399Arg)	NC_000015.9:g.23891694G>C	VUS	1 lab	7c9ffbaa8e
6:123581787 TRDN T>TAA	6	123581787	123581789	T	TAA	TRDN	c.1805-5_1805-4insTT	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581788_123581789insAA	(Likely) benign	1 lab	7ca3e290e1
12:21294551 SLCO1B1 C>T	12	21294551	21294551	C	T	SLCO1B1	c.43C>T	NM_006446.5	NP_006437.3:p.(Pro15Ser)	NC_000012.11:g.21294551C>T	(Likely) benign	1 lab	7ca6bb7f40
16:960986 LMF1 G>A	16	960986	960986	G	A	LMF1	c.608C>T	NM_022773.4	NP_073610.2:p.(Ser203Phe)	NC_000016.9:g.960986G>A	VUS	1 lab	7ca7712eb1
9:20758182 FOCAD C>A	9	20758182	20758182	C	A	FOCAD	c.486C>A	NM_017794.5	NP_060264.4:p.(Cys162Ter)	NC_000009.11:g.20758182C>A	(Likely) pathogenic	1 lab	7ca8529019
2:47389013 CALM2 GTA>G	2	47389013	47389017	GTA	G	CALM2	c.286-18_286-17del	NM_001743.6	NP_001734.1:p.?	NC_000002.11:g.47389016_47389017del	(Likely) benign	1 lab	7ca9305b1e
11:10580684 LYVE1 C>T	11	10580684	10580684	C	T	LYVE1	c.943G>A	NM_006691.4	NP_006682.2:p.(Val315Met)	NC_000011.9:g.10580684C>T	(Likely) benign	1 lab	7cae58bb3c
1:150525403 ADAMTSL4 T>A	1	150525403	150525403	T	A	ADAMTSL4	c.108T>A	NM_019032.6	NP_061905.2:p.(Pro36=)	NC_000001.10:g.150525403T>A	(Likely) benign	1 lab	7cb62f3db7
6:33408696 SYNGAP1 C>G	6	33408696	33408696	C	G	SYNGAP1	c.1867C>G	NM_006772.3	NP_006763.2:p.(Leu623Val)	NC_000006.11:g.33408696C>G	(Likely) benign	1 lab	7cb6425ba5
19:10930662 DNM2 GAGA>G	19	10930662	10930670	GAGA	G	DNM2	c.1684_1686del	NM_001005360.3	NP_001005360.1:p.(Lys562del)	NC_000019.9:g.10930668_10930670del	(Likely) pathogenic	1 lab	7cb7bb6343
2:179440424 TTN G>A	2	179440424	179440424	G	A	TTN	c.70435C>T	NM_001267550.2	NP_001254479.2:p.(Arg23479Trp)	NC_000002.11:g.179440424G>A	VUS	1 lab	7cb8070cb7
2:50892846 NRXN1 Ref too long to show for this DEL>G	2	50892846	50952986	Ref too long to show for this DEL	G	NRXN1	c.833-102232_833-42094del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50892848_50952986del	VUS	1 lab	7cb9f07193
6:56819338 DST T>C	6	56819338	56819338	T	C	DST	c.48A>G	NM_001144769.5	NP_001138241.1:p.(Gln16=)	NC_000006.11:g.56819338T>C	(Likely) benign	1 lab	7cc00a9cf2
15:63349301 TPM1 G>A	15	63349301	63349301	G	A	TPM1	c.358G>A	NM_001365776.1	NP_001352705.1:p.(Ala120Thr)	NC_000015.9:g.63349301G>A	VUS	1 lab	7cc2c43451
12:5153391 KCNA5 C>T	12	5153391	5153391	C	T	KCNA5	c.78C>T	NM_002234.4	NP_002225.2:p.(Cys26=)	NC_000012.11:g.5153391C>T	(Likely) benign	1 lab	7cc4ce2e0c
11:118360946 KMT2A G>A	11	118360946	118360946	G	A	KMT2A	c.4678G>A	NM_001197104.2	NP_001184033.1:p.(Ala1560Thr)	NC_000011.9:g.118360946G>A	VUS	1 lab	7cc6a6deb1
13:32911589 BRCA2 G>C	13	32911589	32911589	G	C	BRCA2	c.3097G>C	NM_000059.4	NP_000050.3:p.(Asp1033His)	NC_000013.10:g.32911589G>C	(Likely) benign	1 lab	7cfd0e4ac7
12:2791781 CACNA1C A>G	12	2791781	2791781	A	G	CACNA1C	c.5510A>G	NM_001167623.2	NP_001161095.1:p.(Tyr1837Cys)	NC_000012.11:g.2791781A>G	VUS	1 lab	7cd20fc075
15:55790518 DNAAF4 G>A	15	55790518	55790518	G	A	DNAAF4	c.10C>T	NM_130810.4	NP_570722.2:p.(Gln4Ter)	NC_000015.9:g.55790518G>A	(Likely) pathogenic	1 lab	7cd7bdbb63
5:37183080 CPLANE1 A>C	5	37183080	37183080	A	C	CPLANE1	c.5203T>G	NM_023073.4	NP_075561.3:p.(Leu1735Val)	NC_000005.9:g.37183080A>C	(Likely) benign	1 lab	7cda235a69
19:50758557 MYH14 G>A	19	50758557	50758557	G	A	MYH14	c.2026G>A	NM_001145809.2	NP_001139281.1:p.(Ala676Thr)	NC_000019.9:g.50758557G>A	VUS	1 lab	7cddbada41
8:90796369 RIPK2 TAAA>T	8	90796369	90796392	TAAA	T	RIPK2	c.1029+23_1029+25del	NM_003821.6	NP_003812.1:p.?	NC_000008.10:g.90796390_90796392del	(Likely) benign	1 lab	7cdedc5769
8:75274099 GDAP1 C>G	8	75274099	75274099	C	G	GDAP1	c.485-20C>G	NM_018972.4	NP_061845.2:p.?	NC_000008.10:g.75274099C>G	(Likely) benign	1 lab	7ce5aae9e4
9:107620910 ABCA1 G>T	9	107620910	107620910	G	T	ABCA1	c.613C>A	NM_005502.4	NP_005493.2:p.(Gln205Lys)	NC_000009.11:g.107620910G>T	VUS	1 lab	7cf174d9bb
19:1221236 STK11 C>T	19	1221236	1221236	C	T	STK11	c.759C>T	NM_000455.5	NP_000446.1:p.(Tyr253=)	NC_000019.9:g.1221236C>T	(Likely) benign	1 lab	7cf1f095e2
1:2238200 SKI C>T	1	2238200	2238200	C	T	SKI	c.2183C>T	NM_003036.4	NP_003027.1:p.(Pro728Leu)	NC_000001.10:g.2238200C>T	VUS	1 lab	7cf3a7d4dc
6:135749801 AHI1 C>T	6	135749801	135749801	C	T	AHI1	c.2589G>A	NM_001350503.2	NP_001337432.1:p.(Glu863=)	NC_000006.11:g.135749801C>T	(Likely) benign	1 lab	7cf6874a33
14:23899769 MYH7 A>T	14	23899769	23899769	A	T	MYH7	c.999T>A	NM_000257.4	NP_000248.2:p.(Asp333Glu)	NC_000014.8:g.23899769A>T	VUS	1 lab	7cf883d799
15:45388250 DUOX2 A>G	15	45388250	45388250	A	G	DUOX2	c.3856T>C	NM_014080.5	NP_054799.4:p.(Tyr1286His)	NC_000015.9:g.45388250A>G	(Likely) benign	1 lab	7cf8ab3b26
17:66547208 PRKAR1A G>A	17	66547208	66547208	G	A	PRKAR1A	c.974-17G>A	NM_001276290.1	NP_001263219.1:p.?	NC_000017.10:g.66547208G>A	(Likely) benign	1 lab	7cf9cfb626
1:25880522 LDLRAP1 G>T	1	25880522	25880522	G	T	LDLRAP1	c.198G>T	NM_015627.3	NP_056442.2:p.(Leu66=)	NC_000001.10:g.25880522G>T	(Likely) benign	1 lab	7cfa29db66
8:133981760 TG T>C	8	133981760	133981760	T	C	TG	c.5921T>C	NM_003235.5	NP_003226.4:p.(Met1974Thr)	NC_000008.10:g.133981760T>C	(Likely) benign	1 lab	7cfef38534
20:32345116 ZNF341 C>T	20	32345116	32345116	C	T	ZNF341	c.904C>T	NM_001282933.2	NP_001269862.1:p.(Arg302Ter)	NC_000020.10:g.32345116C>T	(Likely) pathogenic	1 lab	7d0004cc8b
11:47358040 MYBPC3 CAAAAAAAAAA>C	11	47358040	47358064	CAAAAAAAAAA	C	MYBPC3	c.2603-488_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358055_47358064del	(Likely) benign	1 lab	7d00b6c8ed
16:916911 LMF1 C>T	16	916911	916911	C	T	LMF1	c.1130+2033G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.916911C>T	(Likely) benign	1 lab	7d02ed7478
11:5247635 HBB T>C	11	5247635	5247635	T	C	HBB	c.315+172A>G	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247635T>C	(Likely) pathogenic	1 lab	7d05363860
13:32910437 BRCA2 C>T	13	32910437	32910437	C	T	BRCA2	c.1945C>T	NM_000059.4	NP_000050.3:p.(Gln649Ter)	NC_000013.10:g.32910437C>T	(Likely) pathogenic	1 lab	7d07388835
10:18828669 CACNB2 G>GT	10	18828669	18828688	G	GT	CACNB2	c.*35dup	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18828688dup	(Likely) benign	1 lab	7d095e9b5a
19:11241787 LDLR AG>A	19	11241787	11241788	AG	A	LDLR	c.2548-169del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11241788del	(Likely) benign	1 lab	7d098f9f96
6:32029183 TNXB C>T	6	32029183	32029183	C	T	TNXB	c.7483G>A	NM_019105.8	NP_061978.6:p.(Gly2495Ser)	NC_000006.11:g.32029183C>T	(Likely) benign	1 lab	7d0a3456af
17:10304675 MYH8 T>C	17	10304675	10304675	T	C	MYH8	c.3025A>G	NM_002472.3	NP_002463.2:p.(Thr1009Ala)	NC_000017.10:g.10304675T>C	VUS	1 lab	7d0be1fe52
3:93803176 NSUN3 A>AAATG	3	93803176	93803180	A	AAATG	NSUN3	c.349_352dup	NM_022072.5	NP_071355.1:p.(Ala118GlufsTer45)	NC_000003.11:g.93803177_93803180dup	VUS	1 lab	7d1107b558
16:919982 LMF1 G>A	16	919982	919982	G	A	LMF1	c.918C>T	NM_001352018.2	NP_001338947.1:p.(Tyr306=)	NC_000016.9:g.919982G>A	(Likely) benign	1 lab	7d22dad710
11:9042700 SCUBE2 G>C	11	9042700	9042700	G	C	SCUBE2	c.2808C>G	NM_020974.4	NP_066025.2:p.(Pro936=)	NC_000011.9:g.9042700G>C	(Likely) benign	1 lab	7d28e9738c
22:50662860 TUBGCP6 A>G	22	50662860	50662860	A	G	TUBGCP6	c.2066-11T>C	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50662860A>G	(Likely) benign	1 lab	7d29175370
2:179426381 TTN T>G	2	179426381	179426381	T	G	TTN	c.84478A>C	NM_001267550.2	NP_001254479.2:p.(Thr28160Pro)	NC_000002.11:g.179426381T>G	VUS	1 lab	7d2f30eba5
2:44102485 ABCG8 C>G	2	44102485	44102485	C	G	ABCG8	c.1689C>G	NM_022437.3	NP_071882.1:p.(Ser563Arg)	NC_000002.11:g.44102485C>G	VUS	1 lab	7d338c10cb
1:12032952 PLOD1 C>T	1	12032952	12032952	C	T	PLOD1	c.1926C>T	NM_000302.4	NP_000293.2:p.(Val642=)	NC_000001.10:g.12032952C>T	(Likely) benign	1 lab	7d34e3f0e4
9:107549150 ABCA1 G>A	9	107549150	107549150	G	A	ABCA1	c.6308+4C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549150G>A	(Likely) benign	1 lab	7d38d65322
16:904628 LMF1 C>A	16	904628	904628	C	A	LMF1	c.1528G>T	NM_001352020.1	NP_001338949.1:p.(Ala510Ser)	NC_000016.9:g.904628C>A	VUS	1 lab	7d3b178108
2:63540407 WDPCP G>A	2	63540407	63540407	G	A	WDPCP	c.1788C>T	NM_015910.7	NP_056994.3:p.(Asp596=)	NC_000002.11:g.63540407G>A	(Likely) benign	1 lab	7d3c24bb7d
15:85406123 ALPK3 A>G	15	85406123	85406123	A	G	ALPK3	c.4387A>G	NM_020778.5	NP_065829.4:p.(Arg1463Gly)	NC_000015.9:g.85406123A>G	VUS	1 lab	7d3c473b27
4:16014904 PROM1 C>T	4	16014904	16014904	C	T	PROM1	c.1108G>A	NM_001145847.2	NP_001139319.1:p.(Val370Ile)	NC_000004.11:g.16014904C>T	VUS	1 lab	7d4b8bcd63
16:49671740 ZNF423 G>A	16	49671740	49671740	G	A	ZNF423	c.1143C>T	NM_001271620.2	NP_001258549.1:p.(His381=)	NC_000016.9:g.49671740G>A	(Likely) benign	1 lab	7d4c85d833
12:33021733 PKP2 G>A	12	33021733	33021733	G	A	PKP2	c.1170+128C>T	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33021733G>A	(Likely) benign	1 lab	7d5239979c
2:48032754 MSH6 A>T	2	48032754	48032754	A	T	MSH6	c.3557-3A>T	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032754A>T	(Likely) benign	1 lab	7d539d8139
2:189867750 COL3A1 C>T	2	189867750	189867750	C	T	COL3A1	c.2515C>T	NM_000090.4	NP_000081.2:p.(Pro839Ser)	NC_000002.11:g.189867750C>T	VUS	1 lab	7d54b2a6c8
3:129694681 TRH C>G	3	129694681	129694681	C	G	TRH	c.22C>G	NM_007117.5	NP_009048.1:p.(Leu8Val)	NC_000003.11:g.129694681C>G	(Likely) benign	1 lab	7d598df78d
10:92678744 ANKRD1 A>ATATATATATATATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	7d5a1aee6c
3:14176335 TMEM43 G>A	3	14176335	14176335	G	A	TMEM43	c.649G>A	NM_024334.3	NP_077310.1:p.(Asp217Asn)	NC_000003.11:g.14176335G>A	VUS	1 lab	7d5fbeebf2
1:156848951 NTRK1 G>T	1	156848951	156848951	G	T	NTRK1	c.1843G>T	NM_002529.4	NP_002520.2:p.(Glu615Ter)	NC_000001.10:g.156848951G>T	(Likely) pathogenic	1 lab	7d61f7e40f
20:33591013 TRPC4AP G>C	20	33591013	33591013	G	C	TRPC4AP	c.2330C>G	NM_015638.3	NP_056453.1:p.(Ser777Cys)	NC_000020.10:g.33591013G>C	(Likely) benign	1 lab	7d66c5b6ca
15:48805994 FBN1 T>C	15	48805994	48805994	T	C	FBN1	c.1469-129A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48805994T>C	(Likely) benign	1 lab	7d684dd3ec
17:600735 VPS53 A>G	17	600735	600735	A	G	VPS53	c.219-11T>C	NM_001128159.3	NP_001121631.1:p.?	NC_000017.10:g.600735A>G	(Likely) benign	1 lab	7d6a3b875d
X:7037571 PUDP Ref too long to show for this DEL>T	X	7037571	7058341	Ref too long to show for this DEL	T	PUDP	c.61+7756_62-13693del	NM_012080.5	NP_036212.3:p.?	NC_000023.10:g.7037575_7058341del	VUS	1 lab	7d6b0c0635
X:151821309 GABRQ C>T	X	151821309	151821309	C	T	GABRQ	c.1464C>T	NM_018558.4	NP_061028.3:p.(Ala488=)	NC_000023.10:g.151821309C>T	(Likely) benign	1 lab	7d6b35e85e
2:179395968 TTN G>A	2	179395968	179395968	G	A	TTN	c.105374C>T	NM_001267550.2	NP_001254479.2:p.(Thr35125Met)	NC_000002.11:g.179395968G>A	VUS	1 lab	7d73d5f3f6
18:45375075 SMAD2 TAAA>T	18	45375075	45375082	TAAA	T	SMAD2	c.785-20_785-18del	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45375080_45375082del	(Likely) benign	1 lab	7d7663a046
2:179582453 TTN A>G	2	179582453	179582453	A	G	TTN	c.25148T>C	NM_001267550.2	NP_001254479.2:p.(Ile8383Thr)	NC_000002.11:g.179582453A>G	VUS	1 lab	7d777b3b5a
10:135439015 FRG2B T>C	10	135439015	135439015	T	C	FRG2B	c.425A>G	NM_001080998.2	NP_001074467.1:p.(Asp142Gly)	NC_000010.10:g.135439015T>C	(Likely) benign	1 lab	7d792780ff
15:44920907 SPG11 T>C	15	44920907	44920907	T	C	SPG11	c.2027A>G	NM_025137.4	NP_079413.3:p.(Lys676Arg)	NC_000015.9:g.44920907T>C	(Likely) benign	1 lab	7d797437c7
2:44074642 ABCG8 C>G	2	44074642	44074642	C	G	ABCG8	c.322+1192C>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44074642C>G	(Likely) benign	1 lab	7d7da5cf7c
12:21375287 SLCO1B1 T>C	12	21375287	21375287	T	C	SLCO1B1	c.1736T>C	NM_006446.5	NP_006437.3:p.(Ile579Thr)	NC_000012.11:g.21375287T>C	(Likely) benign	1 lab	7d7f70ec25
21:27086938 JAM2 CT>C	21	27086938	27086941	CT	C	JAM2	c.865-11del	NM_021219.4	NP_067042.1:p.?	NC_000021.8:g.27086941del	(Likely) benign	1 lab	7d839c608d
9:137623260 COL5A1 A>T	9	137623260	137623260	A	T	COL5A1	c.1165-82A>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137623260A>T	(Likely) benign	1 lab	7d842e0ca0
15:90166825 MISSING A>Alt too long to show for this DUP	15	90166825	90191053	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.90166827_90191053dup	VUS	1 lab	7d84e84235
17:75483528 SEPTIN9 C>T	17	75483528	75483528	C	T	SEPTIN9	c.882C>T	NM_006640.5	NP_006631.2:p.(Ser294=)	NC_000017.10:g.75483528C>T	(Likely) benign	1 lab	7d862c129e
12:49689489 PRPH G>T	12	49689489	49689489	G	T	PRPH	c.506G>T	NM_006262.4	NP_006253.2:p.(Arg169Leu)	NC_000012.11:g.49689489G>T	(Likely) benign	1 lab	7d8a7fe9a2
2:220145286 DNAJB2 C>T	2	220145286	220145286	C	T	DNAJB2	c.66-14C>T	NM_006736.6	NP_006727.2:p.?	NC_000002.11:g.220145286C>T	(Likely) benign	1 lab	7d96b91dde
9:137716688 COL5A1 C>T	9	137716688	137716688	C	T	COL5A1	c.4941C>T	NM_000093.5	NP_000084.3:p.(Pro1647=)	NC_000009.11:g.137716688C>T	(Likely) benign	1 lab	7d97467dca
22:38522379 PLA2G6 T>C	22	38522379	38522379	T	C	PLA2G6	c.1426A>G	NM_003560.4	NP_003551.2:p.(Thr476Ala)	NC_000022.10:g.38522379T>C	VUS	1 lab	7d987c7d6b
10:92678744 ANKRD1 A>ATATATATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	7d99a3d667
11:65308258 LTBP3 T>C	11	65308258	65308258	T	C	LTBP3	c.2977+84A>G	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65308258T>C	(Likely) benign	1 lab	7da0e52032
7:30640794 GARS1 C>T	7	30640794	30640794	C	T	GARS1	c.547C>T	NM_002047.4	NP_002038.2:p.(Leu183Phe)	NC_000007.13:g.30640794C>T	(Likely) pathogenic	1 lab	7da2014254
2:136690414 DARS1 T>TA	2	136690414	136690429	T	TA	DARS1	c.505-3dup	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136690429dup	(Likely) benign	1 lab	7da4168efe
1:237947532 RYR2 T>C	1	237947532	237947532	T	C	RYR2	c.12520T>C	NM_001035.3	NP_001026.2:p.(Phe4174Leu)	NC_000001.10:g.237947532T>C	VUS	1 lab	7da4355ca6
1:78383314 NEXN G>A	1	78383314	78383314	G	A	NEXN	c.91G>A	NM_144573.4	NP_653174.3:p.(Val31Ile)	NC_000001.10:g.78383314G>A	VUS	1 lab	7da6fa03d9
13:32936818 BRCA2 A>G	13	32936818	32936818	A	G	BRCA2	c.7964A>G	NM_000059.4	NP_000050.3:p.(Gln2655Arg)	NC_000013.10:g.32936818A>G	VUS	1 lab	7da79139fe
1:94487468 ABCA4 GA>G	1	94487468	94487469	GA	G	ABCA4	c.4706del	NM_000350.3	NP_000341.2:p.(Val1569AlafsTer12)	NC_000001.10:g.94487469del	(Likely) pathogenic	1 lab	7db81c1879
2:21233033 APOB A>G	2	21233033	21233033	A	G	APOB	c.6707T>C	NM_000384.3	NP_000375.3:p.(Ile2236Thr)	NC_000002.11:g.21233033A>G	(Likely) benign	1 lab	7db85aa5f2
8:6690171 MISSING Ref too long to show for this DEL>G	8	6690171	6730419	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.6690173_6730419del	VUS	1 lab	7dbc3245de
9:87338515 NTRK2 C>A	9	87338515	87338515	C	A	NTRK2	c.611C>A	NM_006180.6	NP_006171.2:p.(Pro204His)	NC_000009.11:g.87338515C>A	VUS	1 lab	7dbd77e91f
14:92559678 ATXN3 G>C	14	92559678	92559678	G	C	ATXN3	c.321-16C>G	NM_004993.6	NP_004984.2:p.?	NC_000014.8:g.92559678G>C	(Likely) benign	1 lab	7dbe745f1c
3:193336738 OPA1 G>C	3	193336738	193336738	G	C	OPA1	c.678+13G>C	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193336738G>C	(Likely) benign	1 lab	7dc0368a1d
3:63967845 ATXN7 A>G	3	63967845	63967845	A	G	ATXN7	c.753-17A>G	NM_000333.4	NP_000324.1:p.?	NC_000003.11:g.63967845A>G	(Likely) benign	1 lab	7dc0fdc65f
2:179432476 TTN C>T	2	179432476	179432476	C	T	TTN	c.78383G>A	NM_001267550.2	NP_001254479.2:p.(Arg26128His)	NC_000002.11:g.179432476C>T	VUS	1 lab	7dc5b57b6b
3:38672114 SCN5A G>A	3	38672114	38672114	G	A	SCN5A	c.274-194C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38672114G>A	(Likely) benign	1 lab	7dc6fbcab1
X:10174606 CLCN4 T>C	X	10174606	10174606	T	C	CLCN4	c.762+2T>C	NM_001830.4	NP_001821.2:p.?	NC_000023.10:g.10174606T>C	(Likely) pathogenic	1 lab	7dc726a700
8:55539234 RP1 C>G	8	55539234	55539234	C	G	RP1	c.2792C>G	NM_006269.2	NP_006260.1:p.(Pro931Arg)	NC_000008.10:g.55539234C>G	(Likely) benign	1 lab	7dc8bde5fb
6:66204970 EYS C>G	6	66204970	66204970	C	G	EYS	c.334G>C	NM_001292009.2	NP_001278938.1:p.(Val112Leu)	NC_000006.11:g.66204970C>G	(Likely) benign	1 lab	7dccc39cf3
10:121429652 BAG3 C>T	10	121429652	121429652	C	T	BAG3	c.470C>T	NM_004281.4	NP_004272.2:p.(Ala157Val)	NC_000010.10:g.121429652C>T	VUS	1 lab	7dce0248e8
7:128470718 FLNC CG>C	7	128470718	128470719	CG	C	FLNC	c.28del	NM_001458.5	NP_001449.3:p.(Ala10ProfsTer48)	NC_000007.13:g.128470719del	(Likely) pathogenic	1 lab	7dd03035e8
9:107582780 ABCA1 G>A	9	107582780	107582780	G	A	ABCA1	c.2961-430C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582780G>A	(Likely) benign	1 lab	7dd1d2edd7
X:109964742 CHRDL1 TG>T	X	109964742	109964747	TG	T	CHRDL1	c.317del	NM_001143981.2	NP_001137453.1:p.(Pro106GlnfsTer2)	NC_000023.10:g.109964747del	(Likely) pathogenic	1 lab	7dd201fc34
15:48704566 FBN1 A>G	15	48704566	48704566	A	G	FBN1	c.8226+200T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48704566A>G	(Likely) benign	1 lab	7dd6d6211a
1:214820386 CENPF G>A	1	214820386	214820386	G	A	CENPF	c.7473G>A	NM_016343.4	NP_057427.3:p.(Glu2491=)	NC_000001.10:g.214820386G>A	(Likely) benign	1 lab	7ddff63294
2:44102446 ABCG8 G>A	2	44102446	44102446	G	A	ABCG8	c.1650G>A	NM_022437.3	NP_071882.1:p.(Ala550=)	NC_000002.11:g.44102446G>A	(Likely) benign	1 lab	7de5ce5852
15:85383983 ALPK3 G>C	15	85383983	85383983	G	C	ALPK3	c.1473G>C	NM_020778.5	NP_065829.4:p.(Glu491Asp)	NC_000015.9:g.85383983G>C	VUS	1 lab	7df0345305
2:105979854 FHL2 C>A	2	105979854	105979854	C	A	FHL2	c.576G>T	NM_201555.2	NP_963849.1:p.(Arg192Ser)	NC_000002.11:g.105979854C>A	VUS	1 lab	7df41d4c71
8:144297161 GPIHBP1 C>T	8	144297161	144297161	C	T	GPIHBP1	c.323C>T	NM_178172.6	NP_835466.2:p.(Thr108Met)	NC_000008.10:g.144297161C>T	VUS	1 lab	7df46f8511
21:45751909 CFAP410 AAGAC>A	21	45751909	45751916	AAGAC	A	CFAP410	c.374-16_374-13del	NM_001271441.2	NP_001258370.1:p.?	NC_000021.8:g.45751913_45751916del	(Likely) benign	1 lab	7df4917606
3:9780834 BRPF1 C>T	3	9780834	9780834	C	T	BRPF1	c.751C>T	NM_001003694.2	NP_001003694.1:p.(Arg251Ter)	NC_000003.11:g.9780834C>T	(Likely) pathogenic	1 lab	7e1872a346
3:138247989 MISSING A>Alt too long to show for this DUP	3	138247989	138734531	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.138247990_138734531dup	VUS	1 lab	7df685f5a0
7:76739088 MISSING C>Alt too long to show for this DUP	7	76739088	77011906	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.76739089_77011906dup	VUS	1 lab	7df7991eac
16:29640745 MISSING Ref too long to show for this DEL>T	16	29640745	30198953	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29640746_30198953del	(Likely) pathogenic	1 lab	7df82a338d
1:156843393 NTRK1 G>GA	1	156843393	156843394	G	GA	NTRK1	c.851-31dup	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156843394dup	(Likely) benign	1 lab	7df8410105
2:85237600 KCMF1 Ref too long to show for this DEL>A	2	85237600	85267549	Ref too long to show for this DEL	A	KCMF1	c.17-17409_325-3138del	NM_020122.5	NP_064507.3:p.?	NC_000002.11:g.85237603_85267549del	VUS	1 lab	7dfdef860a
6:32009689 TNXB G>A	6	32009689	32009689	G	A	TNXB	c.12486C>T	NM_019105.8	NP_061978.6:p.(Ser4162=)	NC_000006.11:g.32009689G>A	(Likely) benign	1 lab	7e01f8fb18
5:127637030 FBN2 C>G	5	127637030	127637030	C	G	FBN2	c.6046+44G>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127637030C>G	(Likely) benign	1 lab	7e088336d8
15:83953339 BNC1 G>A	15	83953339	83953339	G	A	BNC1	c.42C>T	NM_001717.4	NP_001708.3:p.(Ala14=)	NC_000015.9:g.83953339G>A	(Likely) benign	1 lab	7e09786cbf
17:39925872 JUP A>G	17	39925872	39925872	A	G	JUP	c.266T>C	NM_002230.4	NP_002221.1:p.(Met89Thr)	NC_000017.10:g.39925872A>G	VUS	1 lab	7e0b39bb86
1:170501442 GORAB A>C	1	170501442	170501442	A	C	GORAB	c.61+17A>C	NM_152281.3	NP_689494.3:p.?	NC_000001.10:g.170501442A>C	(Likely) benign	1 lab	7e0df8fb21
8:19810787 LPL C>A	8	19810787	19810787	C	A	LPL	c.430-34C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810787C>A	(Likely) benign	1 lab	7e105e305d
2:189852826 COL3A1 G>A	2	189852826	189852826	G	A	COL3A1	c.548G>A	NM_000090.4	NP_000081.2:p.(Gly183Asp)	NC_000002.11:g.189852826G>A	(Likely) pathogenic	1 lab	7e113ca3c5
2:24261623 MISSING Ref too long to show for this DEL>G	2	24261623	25953840	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.24261625_25953840del	(Likely) pathogenic	1 lab	7e1473584f
8:1904955 ARHGEF10 C>T	8	1904955	1904955	C	T	ARHGEF10	c.3633C>T	NM_001308153.2	NP_001295082.1:p.(Val1211=)	NC_000008.10:g.1904955C>T	(Likely) benign	1 lab	7e158efdc7
2:44102512 ABCG8 C>T	2	44102512	44102512	C	T	ABCG8	c.1716C>T	NM_022437.3	NP_071882.1:p.(Leu572=)	NC_000002.11:g.44102512C>T	(Likely) benign	1 lab	7e1b345be3
4:55573383 KIT A>G	4	55573383	55573383	A	G	KIT	c.1045A>G	NM_000222.3	NP_000213.1:p.(Ile349Val)	NC_000004.11:g.55573383A>G	(Likely) benign	1 lab	7e1c4f2bdb
11:14316128 RRAS2 TA>T	11	14316128	14316140	TA	T	RRAS2	c.300-4del	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14316140del	(Likely) benign	1 lab	7e1cd7a071
11:121460838 SORL1 A>G	11	121460838	121460838	A	G	SORL1	c.4168A>G	NM_003105.6	NP_003096.2:p.(Arg1390Gly)	NC_000011.9:g.121460838A>G	(Likely) benign	1 lab	7e2453064b
4:100532280 MTTP T>C	4	100532280	100532280	T	C	MTTP	c.1770-20T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532280T>C	(Likely) benign	1 lab	7e28900764
11:108180909 ATM A>G	11	108180909	108180909	A	G	ATM	c.5785A>G	NM_000051.4	NP_000042.3:p.(Asn1929Asp)	NC_000011.9:g.108180909A>G	VUS	1 lab	7e303d3302
2:179393874 TTN A>G	2	179393874	179393874	A	G	TTN	c.106604T>C	NM_001267550.2	NP_001254479.2:p.(Val35535Ala)	NC_000002.11:g.179393874A>G	VUS	1 lab	7e30fbeb94
7:94037407 COL1A2 C>T	7	94037407	94037407	C	T	COL1A2	c.640-88C>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037407C>T	(Likely) benign	1 lab	7e321843b8
12:987391 WNK1 A>G	12	987391	987391	A	G	WNK1	c.3476A>G	NM_001184985.2	NP_001171914.1:p.(Gln1159Arg)	NC_000012.11:g.987391A>G	VUS	1 lab	7e3254140d
5:56545270 GPBP1 A>G	5	56545270	56545270	A	G	GPBP1	c.899A>G	NM_001331037.2	NP_001317966.1:p.(Lys300Arg)	NC_000005.9:g.56545270A>G	VUS	1 lab	7e33779652
3:30732942 TGFBR2 G>A	3	30732942	30732942	G	A	TGFBR2	c.1630G>A	NM_001024847.2	NP_001020018.1:p.(Glu544Lys)	NC_000003.11:g.30732942G>A	(Likely) pathogenic	1 lab	7e36cbc776
5:179250921 SQSTM1 T>G	5	179250921	179250921	T	G	SQSTM1	c.365T>G	NM_003900.5	NP_003891.1:p.(Val122Gly)	NC_000005.9:g.179250921T>G	VUS	1 lab	7e37005cf3
5:1279612 TERT C>T	5	1279612	1279612	C	T	TERT	c.1951-27G>A	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1279612C>T	(Likely) benign	1 lab	7e38d8c846
6:65523369 EYS T>C	6	65523369	65523369	T	C	EYS	c.3345A>G	NM_001292009.2	NP_001278938.1:p.(Glu1115=)	NC_000006.11:g.65523369T>C	(Likely) benign	1 lab	7e3ad7d6d8
19:11224453 LDLR C>T	19	11224453	11224453	C	T	LDLR	c.1586+15C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224453C>T	(Likely) benign	1 lab	7e3d92e727
7:21723447 DNAH11 C>T	7	21723447	21723447	C	T	DNAH11	c.5506C>T	NM_001277115.2	NP_001264044.1:p.(Arg1836Ter)	NC_000007.13:g.21723447C>T	(Likely) pathogenic	1 lab	7e3eda9c65
8:72968052 TRPA1 G>A	8	72968052	72968052	G	A	TRPA1	c.1233C>T	NM_007332.3	NP_015628.2:p.(Asn411=)	NC_000008.10:g.72968052G>A	(Likely) benign	1 lab	7e40935076
1:215853708 USH2A T>A	1	215853708	215853708	T	A	USH2A	c.12077A>T	NM_206933.4	NP_996816.3:p.(His4026Leu)	NC_000001.10:g.215853708T>A	VUS	1 lab	7e46bbf295
17:41245834 BRCA1 C>T	17	41245834	41245834	C	T	BRCA1	c.1714G>A	NM_007294.4	NP_009225.1:p.(Glu572Lys)	NC_000017.10:g.41245834C>T	(Likely) benign	1 lab	7e49a2a196
9:107588777 ABCA1 C>T	9	107588777	107588777	C	T	ABCA1	c.2337+452G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588777C>T	(Likely) benign	1 lab	7e49e2a12a
16:88788069 PIEZO1 C>A	16	88788069	88788069	C	A	PIEZO1	c.5280G>T	NM_001142864.4	NP_001136336.2:p.(Leu1760=)	NC_000016.9:g.88788069C>A	(Likely) benign	1 lab	7e4e26b8cf
X:49137893 PPP1R3F G>A	X	49137893	49137893	G	A	PPP1R3F	c.1029G>A	NM_033215.5	NP_149992.3:p.(Thr343=)	NC_000023.10:g.49137893G>A	(Likely) benign	1 lab	7e5215fc72
9:137711998 COL5A1 G>A	9	137711998	137711998	G	A	COL5A1	c.4483G>A	NM_000093.5	NP_000084.3:p.(Gly1495Ser)	NC_000009.11:g.137711998G>A	(Likely) pathogenic	1 lab	7e53f8bdfc
7:91630857 AKAP9 ACAGATT>A	7	91630857	91630867	ACAGATT	A	AKAP9	c.1631_1636del	NM_005751.5	NP_005742.4:p.(Ile544_Gln545del)	NC_000007.13:g.91630862_91630867del	VUS	1 lab	7e5992d23f
2:179511767 TTN G>GTATATATATATATATATATA	2	179511767	179511789	G	GTATATATATATATATATATA	TTN	c.40222+4_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511770_179511789dup	(Likely) benign	1 lab	7e5dd9b0da
19:50796941 MYH14 G>A	19	50796941	50796941	G	A	MYH14	c.5466G>A	NM_001145809.2	NP_001139281.1:p.(Leu1822=)	NC_000019.9:g.50796941G>A	(Likely) benign	1 lab	7e5fc9ed54
18:19752072 GATA6 TACC>T	18	19752072	19752103	TACC	T	GATA6	c.996_998del	NM_005257.6	NP_005248.2:p.(His333del)	NC_000018.9:g.19752101_19752103del	(Likely) benign	1 lab	7e5fcd661c
16:55853495 CES1 G>A	16	55853495	55853495	G	A	CES1	c.858C>T	NM_001025195.2	NP_001020366.1:p.(Cys286=)	NC_000016.9:g.55853495G>A	(Likely) benign	1 lab	7e62620560
3:195506099 MUC4 T>C	3	195506099	195506099	T	C	MUC4	c.12352A>G	NM_018406.7	NP_060876.5:p.(Thr4118Ala)	NC_000003.11:g.195506099T>C	(Likely) benign	1 lab	7e6616ceb0
11:2186970 TH G>A	11	2186970	2186970	G	A	TH	c.1221C>T	NM_199292.3	NP_954986.2:p.(Phe407=)	NC_000011.9:g.2186970G>A	(Likely) benign	1 lab	7e782e685b
12:50498965 GPD1 C>A	12	50498965	50498965	C	A	GPD1	c.220-366C>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498965C>A	(Likely) benign	1 lab	7e7b6432c3
2:74273882 TET3 C>T	2	74273882	74273882	C	T	TET3	c.838C>T	NM_001287491.2	NP_001274420.1:p.(Pro280Ser)	NC_000002.11:g.74273882C>T	VUS	1 lab	7e7c5d38dd
11:118014579 SCN4B G>A	11	118014579	118014579	G	A	SCN4B	c.432C>T	NM_174934.4	NP_777594.1:p.(His144=)	NC_000011.9:g.118014579G>A	(Likely) benign	1 lab	7e7ef016f9
1:236890967 ACTN2 C>T	1	236890967	236890967	C	T	ACTN2	c.-285-11C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236890967C>T	(Likely) benign	1 lab	7e81e2d9a9
12:122247909 SETD1B C>T	12	122247909	122247909	C	T	SETD1B	c.1058C>T	NM_001353345.2	NP_001340274.1:p.(Pro353Leu)	NC_000012.11:g.122247909C>T	(Likely) benign	1 lab	7e860ba771
9:87342648 NTRK2 C>A	9	87342648	87342648	C	A	NTRK2	c.933C>A	NM_006180.6	NP_006171.2:p.(Pro311=)	NC_000009.11:g.87342648C>A	(Likely) benign	1 lab	7e886a77fd
17:1587003 PRPF8 G>A	17	1587003	1587003	G	A	PRPF8	c.101-8C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1587003G>A	(Likely) benign	1 lab	7e8be5f9cb
14:55326384 GCH1 C>T	14	55326384	55326384	C	T	GCH1	c.509+15G>A	NM_000161.3	NP_000152.1:p.?	NC_000014.8:g.55326384C>T	(Likely) benign	1 lab	7e8d2bbf25
6:33412317 SYNGAP1 G>T	6	33412317	33412317	G	T	SYNGAP1	c.3505G>T	NM_006772.3	NP_006763.2:p.(Glu1169Ter)	NC_000006.11:g.33412317G>T	(Likely) pathogenic	1 lab	7e8ddf0a3c
6:16147098 MYLIP T>TA	6	16147098	16147112	T	TA	MYLIP	c.*130dup	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16147112dup	(Likely) benign	1 lab	804cf484aa
2:179315726 PRKRA G>A	2	179315726	179315726	G	A	PRKRA	c.32C>T	NM_003690.5	NP_003681.1:p.(Pro11Leu)	NC_000002.11:g.179315726G>A	(Likely) benign	1 lab	7e8f474f51
6:75904629 COL12A1 T>G	6	75904629	75904629	T	G	COL12A1	c.108A>C	NM_004370.6	NP_004361.3:p.(Ile36=)	NC_000006.11:g.75904629T>G	(Likely) benign	1 lab	7e947e0c89
4:100515986 MTTP G>A	4	100515986	100515986	G	A	MTTP	c.855G>A	NM_000253.4	NP_000244.2:p.(Thr285=)	NC_000004.11:g.100515986G>A	(Likely) benign	1 lab	7e98f2b5bb
2:179403384 TTN ATTGCTTGTCC>A	2	179403384	179403396	ATTGCTTGTCC	A	TTN	c.99162_99171del	NM_001267550.2	NP_001254479.2:p.(Lys33054AsnfsTer4)	NC_000002.11:g.179403387_179403396del	(Likely) pathogenic	1 lab	7e99f1cd3b
10:75434973 AGAP5 T>C	10	75434973	75434973	T	C	AGAP5	c.1445A>G	NM_001144000.4	NP_001137472.1:p.(Tyr482Cys)	NC_000010.10:g.75434973T>C	(Likely) benign	1 lab	7e9cfc52d4
1:8684402 RERE C>T	1	8684402	8684402	C	T	RERE	c.363G>A	NM_012102.4	NP_036234.3:p.(Pro121=)	NC_000001.10:g.8684402C>T	(Likely) benign	1 lab	7e9d7229a3
16:29567295 MISSING Ref too long to show for this DEL>A	16	29567295	30321320	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29567296_30321320del	(Likely) pathogenic	1 lab	7ea2524c68
22:46930393 CELSR1 A>C	22	46930393	46930393	A	C	CELSR1	c.2675T>G	NM_001378328.1	NP_001365257.1:p.(Phe892Cys)	NC_000022.10:g.46930393A>C	VUS	1 lab	7ea3d3bb72
3:148904440 CP G>A	3	148904440	148904440	G	A	CP	c.1944C>T	NM_000096.4	NP_000087.2:p.(Ser648=)	NC_000003.11:g.148904440G>A	(Likely) benign	1 lab	7eb11aa793
11:64572708 MEN1 TACTC>T	11	64572708	64572714	TACTC	T	MEN1	c.1186-42_1186-39del	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64572711_64572714del	(Likely) benign	1 lab	7eb5c0a0e8
3:52485537 TNNC1 A>G	3	52485537	52485537	A	G	TNNC1	c.324T>C	NM_003280.3	NP_003271.1:p.(Ala108=)	NC_000003.11:g.52485537A>G	(Likely) benign	1 lab	7eb805418b
5:133942728 SAR1B G>A	5	133942728	133942728	G	A	SAR1B	c.509C>T	NM_001033503.3	NP_001028675.1:p.(Ala170Val)	NC_000005.9:g.133942728G>A	(Likely) benign	1 lab	7ec20511d7
18:48584855 SMAD4 AT>A	18	48584855	48584871	AT	A	SMAD4	c.904+45del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48584871del	(Likely) benign	1 lab	7ec4684d9c
20:55682677 MISSING C>Alt too long to show for this DUP	20	55682677	55872803	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.55682678_55872803dup	VUS	1 lab	7ec77e7d22
10:69935236 MYPN A>G	10	69935236	69935236	A	G	MYPN	c.2703+18A>G	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69935236A>G	(Likely) benign	1 lab	7ecaca0286
1:17326602 ATP13A2 CG>C	1	17326602	17326605	CG	C	ATP13A2	c.927del	NM_001141973.3	NP_001135445.1:p.(Gly310GlufsTer12)	NC_000001.10:g.17326605del	(Likely) pathogenic	1 lab	7ecfa7516e
1:64125439 PGM1 A>C	1	64125439	64125439	A	C	PGM1	c.*93A>C	NM_001172818.1	NP_001166289.1:p.?	NC_000001.10:g.64125439A>C	(Likely) benign	1 lab	7ed258e82b
19:11234591 LDLR G>A	19	11234591	11234591	G	A	LDLR	c.2311+571G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234591G>A	(Likely) benign	1 lab	7ed46a8759
18:77246406 NFATC1 T>G	18	77246406	77246406	T	G	NFATC1	c.2251T>G	NM_001278669.2	NP_001265598.1:p.(Cys751Gly)	NC_000018.9:g.77246406T>G	(Likely) benign	1 lab	7ed78d0dad
3:38781127 SCN10A Ref too long to show for this DEL>T	3	38781127	38816172	Ref too long to show for this DEL	T	SCN10A	c.471-3274_2158del	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38781128_38816172del	VUS	1 lab	7ed8f7e9e3
5:127641361 FBN2 C>A	5	127641361	127641361	C	A	FBN2	c.5549-33G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641361C>A	(Likely) benign	1 lab	7ed928e3ad
22:31362867 MISSING A>Alt too long to show for this DUP	22	31362867	31839121	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.31362869_31839121dup	VUS	1 lab	7edababca6
3:123005566 ADCY5 C>T	3	123005566	123005566	C	T	ADCY5	c.3623G>A	NM_183357.3	NP_899200.1:p.(Arg1208His)	NC_000003.11:g.123005566C>T	VUS	1 lab	7ee0393810
5:1294671 TERT G>T	5	1294671	1294671	G	T	TERT	c.330C>A	NM_198253.3	NP_937983.2:p.(Gly110=)	NC_000005.9:g.1294671G>T	(Likely) benign	1 lab	7ee4bca71d
8:144295782 GPIHBP1 G>C	8	144295782	144295782	G	C	GPIHBP1	c.138G>C	NM_178172.6	NP_835466.2:p.(Val46=)	NC_000008.10:g.144295782G>C	(Likely) benign	1 lab	7ee513bab6
18:34289203 FHOD3 G>A	18	34289203	34289203	G	A	FHOD3	c.2382G>A	NM_001281740.3	NP_001268669.1:p.(Glu794=)	NC_000018.9:g.34289203G>A	(Likely) benign	1 lab	7ee5e1ec5a
6:32035427 TNXB T>C	6	32035427	32035427	T	C	TNXB	c.6544+11A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32035427T>C	(Likely) benign	1 lab	7eeb14cbf0
13:32914338 BRCA2 A>G	13	32914338	32914338	A	G	BRCA2	c.5846A>G	NM_000059.4	NP_000050.3:p.(Asp1949Gly)	NC_000013.10:g.32914338A>G	(Likely) benign	1 lab	7ef0ffd957
16:1004424 LMF1 C>T	16	1004424	1004424	C	T	LMF1	c.436G>A	NM_022773.4	NP_073610.2:p.(Ala146Thr)	NC_000016.9:g.1004424C>T	VUS	1 lab	7ef2342558
6:32011920 TNXB A>G	6	32011920	32011920	A	G	TNXB	c.11258-14T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011920A>G	(Likely) benign	1 lab	7ef7c37dc4
22:50659347 TUBGCP6 G>A	22	50659347	50659347	G	A	TUBGCP6	c.3441C>T	NM_020461.4	NP_065194.3:p.(Asn1147=)	NC_000022.10:g.50659347G>A	(Likely) benign	1 lab	7ef986c7ba
19:8140037 FBN3 A>C	19	8140037	8140037	A	C	FBN3	c.7620T>G	NM_032447.5	NP_115823.3:p.(His2540Gln)	NC_000019.9:g.8140037A>C	(Likely) benign	1 lab	7efbd22740
19:45411165 APOE G>T	19	45411165	45411165	G	T	APOE	c.270G>T	NM_001302688.2	NP_001289617.1:p.(Gln90His)	NC_000019.9:g.45411165G>T	VUS	1 lab	7efd2e10cb
8:97157151 GDF6 C>T	8	97157151	97157151	C	T	GDF6	c.1008G>A	NM_001001557.4	NP_001001557.1:p.(Thr336=)	NC_000008.10:g.97157151C>T	(Likely) benign	1 lab	7f00e9c712
18:58038746 MC4R G>A	18	58038746	58038746	G	A	MC4R	c.837C>T	NM_005912.3	NP_005903.2:p.(Cys279=)	NC_000018.9:g.58038746G>A	(Likely) benign	1 lab	7f018bbfb5
12:48391413 COL2A1 G>A	12	48391413	48391413	G	A	COL2A1	c.507C>T	NM_001844.5	NP_001835.3:p.(Pro169=)	NC_000012.11:g.48391413G>A	(Likely) benign	1 lab	7f079970eb
12:2676859 CACNA1C C>T	12	2676859	2676859	C	T	CACNA1C	c.1794C>T	NM_199460.4	NP_955630.3:p.(Gly598=)	NC_000012.11:g.2676859C>T	(Likely) benign	1 lab	7f0e998390
5:90368290 ADGRV1 CT>C	5	90368290	90368293	CT	C	ADGRV1	c.18182del	NM_032119.4	NP_115495.3:p.(Leu6061CysfsTer9)	NC_000005.9:g.90368293del	(Likely) pathogenic	1 lab	7f0f9308fc
18:58039519 MC4R T>A	18	58039519	58039519	T	A	MC4R	c.64A>T	NM_005912.3	NP_005903.2:p.(Arg22Ter)	NC_000018.9:g.58039519T>A	(Likely) pathogenic	1 lab	7f1154df5f
1:45973226 MMACHC AG>A	1	45973226	45973228	AG	A	MMACHC	c.276+6del	NM_015506.3	NP_056321.2:p.?	NC_000001.10:g.45973228del	(Likely) benign	1 lab	7f1191464c
8:140630579 KCNK9 C>T	8	140630579	140630579	C	T	KCNK9	c.1047G>A	NM_001282534.2	NP_001269463.1:p.(Ser349=)	NC_000008.10:g.140630579C>T	(Likely) benign	1 lab	7f160a6b85
17:48437456 XYLT2 C>G	17	48437456	48437456	C	G	XYLT2	c.2402C>G	NM_022167.4	NP_071450.2:p.(Thr801Arg)	NC_000017.10:g.48437456C>G	(Likely) benign	1 lab	7f1d8edfcd
2:179499355 TTN T>G	2	179499355	179499355	T	G	TTN	c.42153A>C	NM_001267550.2	NP_001254479.2:p.(Glu14051Asp)	NC_000002.11:g.179499355T>G	VUS	1 lab	7f1de7dcce
2:179560824 TTN C>G	2	179560824	179560824	C	G	TTN	c.30975G>C	NM_001267550.2	NP_001254479.2:p.(Glu10325Asp)	NC_000002.11:g.179560824C>G	VUS	1 lab	7f21eed3de
17:80603505 MISSING T>Alt too long to show for this DUP	17	80603505	81041940	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.80603508_81041940dup	VUS	1 lab	7f262e6ddd
4:88537297 DSPP CAGCAGCGAT>C	4	88537297	88537314	CAGCAGCGAT	C	DSPP	c.3492_3500del	NM_014208.3	NP_055023.2:p.(Asp1176_Ser1178del)	NC_000004.11:g.88537306_88537314del	(Likely) benign	1 lab	7f2b3be319
7:128477254 FLNC C>T	7	128477254	128477254	C	T	FLNC	c.642C>T	NM_001458.5	NP_001449.3:p.(Pro214=)	NC_000007.13:g.128477254C>T	(Likely) benign	1 lab	7f60d030e7
6:56327856 DST C>T	6	56327856	56327856	C	T	DST	c.16629G>A	NM_001144769.5	NP_001138241.1:p.(Val5543=)	NC_000006.11:g.56327856C>T	(Likely) benign	1 lab	7f34beb423
19:13220195 TRMT1 C>T	19	13220195	13220195	C	T	TRMT1	c.1397G>A	NM_017722.5	NP_060192.1:p.(Arg466Gln)	NC_000019.9:g.13220195C>T	VUS	1 lab	7f35c84f0f
20:45867566 ZMYND8 TTGC>T	20	45867566	45867589	TTGC	T	ZMYND8	c.2538_2540del	NM_001281773.3	NP_001268702.1:p.(Gln847del)	NC_000020.10:g.45867587_45867589del	(Likely) benign	1 lab	7f39700207
13:32914692 BRCA2 C>T	13	32914692	32914692	C	T	BRCA2	c.6200C>T	NM_000059.4	NP_000050.3:p.(Ser2067Phe)	NC_000013.10:g.32914692C>T	(Likely) benign	1 lab	7f3cba762d
2:179451304 TTN C>T	2	179451304	179451304	C	T	TTN	c.64324G>A	NM_001267550.2	NP_001254479.2:p.(Ala21442Thr)	NC_000002.11:g.179451304C>T	VUS	1 lab	7f41eb18e4
9:101894955 TGFBR1 T>G	9	101894955	101894955	T	G	TGFBR1	c.508T>G	NM_004612.4	NP_004603.1:p.(Phe170Val)	NC_000009.11:g.101894955T>G	VUS	1 lab	7f438fe337
17:78083789 GAA TACG>T	17	78083789	78083796	TACG	T	GAA	c.1377_1379del	NM_000152.5	NP_000143.2:p.(Asp459del)	NC_000017.10:g.78083794_78083796del	(Likely) pathogenic	1 lab	7f46258f98
X:108868153 KCNE5 G>A	X	108868153	108868153	G	A	KCNE5	c.97C>T	NM_012282.4	NP_036414.1:p.(Pro33Ser)	NC_000023.10:g.108868153G>A	(Likely) benign	1 lab	7f4c5bd96a
5:178772262 ADAMTS2 A>G	5	178772262	178772262	A	G	ADAMTS2	c.68T>C	NM_014244.5	NP_055059.2:p.(Leu23Pro)	NC_000005.9:g.178772262A>G	(Likely) benign	1 lab	7f4d9223ec
16:57945638 CNGB1 G>C	16	57945638	57945638	G	C	CNGB1	c.2492+19C>G	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57945638G>C	(Likely) benign	1 lab	7f4ef7cf3b
11:66288725 BBS1 C>T	11	66288725	66288725	C	T	BBS1	c.724-16C>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66288725C>T	(Likely) benign	1 lab	7f56c76e38
1:25883311 LDLRAP1 A>C	1	25883311	25883311	A	C	LDLRAP1	c.345-333A>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883311A>C	(Likely) benign	1 lab	7f590bdeba
1:186031106 HMCN1 T>G	1	186031106	186031106	T	G	HMCN1	c.7426+10T>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186031106T>G	(Likely) benign	1 lab	7f5bea2ead
21:36921337 MISSING G>Alt too long to show for this DUP	21	36921337	37474636	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.36921338_37474636dup	VUS	1 lab	7f61266f80
5:95765019 PCSK1 A>G	5	95765019	95765019	A	G	PCSK1	c.183T>C	NM_000439.5	NP_000430.3:p.(Ile61=)	NC_000005.9:g.95765019A>G	(Likely) benign	1 lab	7f650de60d
15:41429812 MISSING Ref too long to show for this DEL>C	15	41429812	41498083	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.41429816_41498083del	VUS	1 lab	7f6962a4c6
15:58855730 LIPC C>T	15	58855730	58855730	C	T	LIPC	c.1196C>T	NM_000236.3	NP_000227.2:p.(Thr399Met)	NC_000015.9:g.58855730C>T	VUS	1 lab	7f69d20159
X:52891653 XAGE3 C>T	X	52891653	52891653	C	T	XAGE3	c.330G>A	NM_133179.3	NP_573440.1:p.(Gln110=)	NC_000023.10:g.52891653C>T	(Likely) benign	1 lab	7f6ff972fa
19:8191238 FBN3 C>T	19	8191238	8191238	C	T	FBN3	c.2555-7G>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8191238C>T	(Likely) benign	1 lab	7f701d83f9
2:21226146 APOB C>T	2	21226146	21226146	C	T	APOB	c.12148G>A	NM_000384.3	NP_000375.3:p.(Glu4050Lys)	NC_000002.11:g.21226146C>T	VUS	1 lab	7f72b0902d
5:42252922 MISSING G>Alt too long to show for this DUP	5	42252922	42559494	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.42252923_42559494dup	VUS	1 lab	7f7a4548ca
7:128488617 FLNC C>G	7	128488617	128488617	C	G	FLNC	c.4583C>G	NM_001458.5	NP_001449.3:p.(Pro1528Arg)	NC_000007.13:g.128488617C>G	VUS	1 lab	7f7ee78149
5:79966135 MSH3 C>T	5	79966135	79966135	C	T	MSH3	c.792+7C>T	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79966135C>T	(Likely) benign	1 lab	7f7ffbb565
19:11224040 LDLR A>G	19	11224040	11224040	A	G	LDLR	c.1273A>G	NM_000527.5	NP_000518.1:p.(Asn425Asp)	NC_000019.9:g.11224040A>G	VUS	1 lab	7f849d6956
2:44102434 ABCG8 C>T	2	44102434	44102434	C	T	ABCG8	c.1638C>T	NM_022437.3	NP_071882.1:p.(Ala546=)	NC_000002.11:g.44102434C>T	(Likely) benign	1 lab	7f853d26cd
10:90699338 ACTA2 G>A	10	90699338	90699338	G	A	ACTA2	c.734C>T	NM_001141945.2	NP_001135417.1:p.(Pro245Leu)	NC_000010.10:g.90699338G>A	(Likely) pathogenic	1 lab	7f8d156cd7
10:112769596 SHOC2 C>T	10	112769596	112769596	C	T	SHOC2	c.1540+8C>T	NM_001324337.2	NP_001311266.1:p.?	NC_000010.10:g.112769596C>T	(Likely) benign	1 lab	7fad075002
X:74075364 NEXMIF T>Alt too long to show for this DUP	X	74075364	74088642	T	Alt too long to show for this DUP	NEXMIF	c.-48+56076_-48+69353dup	NM_001008537.3	NP_001008537.1:p.?	NC_000023.10:g.74075365_74088642dup	VUS	1 lab	7f9685f7a2
2:44079931 ABCG8 G>A	2	44079931	44079931	G	A	ABCG8	c.888G>A	NM_022437.3	NP_071882.1:p.(Ala296=)	NC_000002.11:g.44079931G>A	(Likely) benign	1 lab	7f96c0b229
3:25778914 NGLY1 C>G	3	25778914	25778914	C	G	NGLY1	c.914G>C	NM_018297.4	NP_060767.2:p.(Arg305Thr)	NC_000003.11:g.25778914C>G	VUS	1 lab	7f97caa8e4
2:21232321 APOB G>C	2	21232321	21232321	G	C	APOB	c.7419C>G	NM_000384.3	NP_000375.3:p.(Thr2473=)	NC_000002.11:g.21232321G>C	(Likely) benign	1 lab	7f995b5702
19:11216090 LDLR G>A	19	11216090	11216090	G	A	LDLR	c.508G>A	NM_000527.5	NP_000518.1:p.(Asp170Asn)	NC_000019.9:g.11216090G>A	VUS	1 lab	80e78f4bcf
2:106002941 FHL2 G>A	2	106002941	106002941	G	A	FHL2	c.33C>T	NM_201555.2	NP_963849.1:p.(Asn11=)	NC_000002.11:g.106002941G>A	(Likely) benign	1 lab	7f99ec9557
19:39997728 DLL3 C>T	19	39997728	39997728	C	T	DLL3	c.1143C>T	NM_016941.4	NP_058637.1:p.(Ala381=)	NC_000019.9:g.39997728C>T	(Likely) benign	1 lab	7f9e2eff13
4:122754527 BBS7 G>A	4	122754527	122754527	G	A	BBS7	c.1535C>T	NM_176824.3	NP_789794.1:p.(Thr512Ile)	NC_000004.11:g.122754527G>A	VUS	1 lab	7fa42237d2
12:53343005 KRT18 G>A	12	53343005	53343005	G	A	KRT18	c.48G>A	NM_000224.3	NP_000215.1:p.(Leu16=)	NC_000012.11:g.53343005G>A	(Likely) benign	1 lab	7fa4c5cec9
9:107550254 ABCA1 G>A	9	107550254	107550254	G	A	ABCA1	c.6151C>T	NM_005502.4	NP_005493.2:p.(Arg2051Cys)	NC_000009.11:g.107550254G>A	VUS	1 lab	7fa542dc34
1:156146669 SEMA4A C>T	1	156146669	156146669	C	T	SEMA4A	c.2167C>T	NM_022367.4	NP_071762.2:p.(Arg723Cys)	NC_000001.10:g.156146669C>T	(Likely) benign	1 lab	7fa5a81f3a
6:75862468 COL12A1 T>C	6	75862468	75862468	T	C	COL12A1	c.3566-270A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75862468T>C	(Likely) benign	1 lab	7fa6fc0ef5
6:49425446 MMUT T>C	6	49425446	49425446	T	C	MMUT	c.711A>G	NM_000255.4	NP_000246.2:p.(Pro237=)	NC_000006.11:g.49425446T>C	(Likely) benign	1 lab	7fa7623a4c
4:24321498 MISSING C>Alt too long to show for this DUP	4	24321498	24510480	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.24321501_24510480dup	VUS	1 lab	7fa8af0f5d
9:135218063 SETX A>G	9	135218063	135218063	A	G	SETX	c.498+14T>C	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135218063A>G	(Likely) benign	1 lab	7fb08ddbd3
3:38621001 SCN5A G>A	3	38621001	38621001	G	A	SCN5A	c.3229-15C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38621001G>A	VUS	1 lab	7fb3ef3e4d
14:64496749 SYNE2 C>T	14	64496749	64496749	C	T	SYNE2	c.6851C>T	NM_182914.3	NP_878918.2:p.(Ala2284Val)	NC_000014.8:g.64496749C>T	(Likely) benign	1 lab	7fb48114cd
16:1004678 LMF1 A>G	16	1004678	1004678	A	G	LMF1	c.-361-12T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004678A>G	(Likely) benign	1 lab	7fb7788a23
19:11238692 LDLR G>A	19	11238692	11238692	G	A	LDLR	c.2320G>A	NM_000527.5	NP_000518.1:p.(Asp774Asn)	NC_000019.9:g.11238692G>A	VUS	1 lab	8277069245
6:32549613 HLA-DRB1 G>C	6	32549613	32549613	G	C	HLA-DRB1	c.373C>G	NM_002124.4	NP_002115.2:p.(Gln125Glu)	NC_000006.11:g.32549613G>C	(Likely) benign	1 lab	7fb7822f49
2:179425266 TTN A>G	2	179425266	179425266	A	G	TTN	c.85593T>C	NM_001267550.2	NP_001254479.2:p.(Tyr28531=)	NC_000002.11:g.179425266A>G	(Likely) benign	1 lab	7fb79706d0
9:133753475 ABL1 C>T	9	133753475	133753475	C	T	ABL1	c.1271-327C>T	NM_005157.6	NP_005148.2:p.?	NC_000009.11:g.133753475C>T	(Likely) benign	1 lab	7fb9a21ae8
7:23145768 KLHL7 A>G	7	23145768	23145768	A	G	KLHL7	c.120+3A>G	NM_001031710.3	NP_001026880.2:p.?	NC_000007.13:g.23145768A>G	VUS	1 lab	7fbc952297
2:32361641 SPAST G>A	2	32361641	32361641	G	A	SPAST	c.1255G>A	NM_014946.4	NP_055761.2:p.(Gly419Arg)	NC_000002.11:g.32361641G>A	VUS	1 lab	7fc35d9cba
9:137681049 COL5A1 G>A	9	137681049	137681049	G	A	COL5A1	c.2695G>A	NM_000093.5	NP_000084.3:p.(Gly899Ser)	NC_000009.11:g.137681049G>A	(Likely) benign	1 lab	7fcfb5dcf0
4:55976947 KDR T>A	4	55976947	55976947	T	A	KDR	c.977-12A>T	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976947T>A	(Likely) benign	1 lab	7fd3403e92
10:73450346 CDH23 GC>G	10	73450346	73450353	GC	G	CDH23	c.2176+12del	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73450353del	(Likely) benign	1 lab	7fd8332b1e
4:47944047 CNGA1 A>G	4	47944047	47944047	A	G	CNGA1	c.545+11T>C	NM_001142564.2	NP_001136036.2:p.?	NC_000004.11:g.47944047A>G	(Likely) benign	1 lab	7fe2bc3037
2:179538357 TTN T>C	2	179538357	179538357	T	C	TTN	c.34786+3A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179538357T>C	VUS	1 lab	7fe65b9727
2:21238897 APOB T>C	2	21238897	21238897	T	C	APOB	c.3332+414A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238897T>C	(Likely) benign	1 lab	7fecfa03d1
2:169728069 SPC25 GAA>G	2	169728069	169728083	GAA	G	SPC25	c.551-6_551-5del	NM_020675.4	NP_065726.1:p.?	NC_000002.11:g.169728082_169728083del	(Likely) benign	1 lab	7fefe64989
15:22770421 MISSING Ref too long to show for this DEL>A	15	22770421	23082328	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770422_23082328del	(Likely) pathogenic	1 lab	7ff1ec708b
15:58855890 LIPC G>A	15	58855890	58855890	G	A	LIPC	c.1356G>A	NM_000236.3	NP_000227.2:p.(Thr452=)	NC_000015.9:g.58855890G>A	(Likely) benign	1 lab	7ff7b4a3c6
5:180043407 FLT4 C>T	5	180043407	180043407	C	T	FLT4	c.3179G>A	NM_182925.5	NP_891555.2:p.(Arg1060Gln)	NC_000005.9:g.180043407C>T	VUS	1 lab	7ffa3da944
9:140637823 EHMT1 C>T	9	140637823	140637823	C	T	EHMT1	c.824C>T	NM_024757.5	NP_079033.4:p.(Ala275Val)	NC_000009.11:g.140637823C>T	(Likely) benign	1 lab	7fff547920
12:57963817 KIF5A C>T	12	57963817	57963817	C	T	KIF5A	c.1165C>T	NM_004984.4	NP_004975.2:p.(Leu389=)	NC_000012.11:g.57963817C>T	(Likely) benign	1 lab	7fff5abd38
19:10934538 DNM2 C>T	19	10934538	10934538	C	T	DNM2	c.1856C>T	NM_001005360.3	NP_001005360.1:p.(Ser619Leu)	NC_000019.9:g.10934538C>T	(Likely) pathogenic	1 lab	800070ccf3
11:46332638 CREB3L1 C>T	11	46332638	46332638	C	T	CREB3L1	c.651C>T	NM_052854.4	NP_443086.1:p.(Asp217=)	NC_000011.9:g.46332638C>T	(Likely) benign	1 lab	8000924549
16:28497907 CLN3 G>C	16	28497907	28497907	G	C	CLN3	c.525C>G	NM_001042432.2	NP_001035897.1:p.(Phe175Leu)	NC_000016.9:g.28497907G>C	(Likely) benign	1 lab	800281027f
2:179430273 TTN G>A	2	179430273	179430273	G	A	TTN	c.80586C>T	NM_001267550.2	NP_001254479.2:p.(Ser26862=)	NC_000002.11:g.179430273G>A	(Likely) benign	1 lab	8002bef798
2:21242578 APOB C>G	2	21242578	21242578	C	G	APOB	c.2999+17G>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242578C>G	(Likely) benign	1 lab	8004cbc69c
5:133942492 SAR1B T>C	5	133942492	133942492	T	C	SAR1B	c.*148A>G	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133942492T>C	(Likely) benign	1 lab	800a775348
14:72458105 MISSING A>Alt too long to show for this DUP	14	72458105	73117688	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.72458106_73117688dup	VUS	1 lab	800eac700d
18:45372189 SMAD2 T>C	18	45372189	45372189	T	C	SMAD2	c.998-18A>G	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45372189T>C	(Likely) benign	1 lab	8014017c1b
11:47366593 MYBPC3 G>A	11	47366593	47366593	G	A	MYBPC3	c.1090+1165C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366593G>A	(Likely) benign	1 lab	80187cfdd9
14:105185178 INF2 G>A	14	105185178	105185178	G	A	INF2	c.*48G>A	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105185178G>A	(Likely) benign	1 lab	801b8b0333
13:30829757 KATNAL1 CAAAA>C	13	30829757	30829776	CAAAA	C	KATNAL1	c.324-9_324-6del	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829773_30829776del	(Likely) benign	1 lab	801d9258ed
9:107582341 ABCA1 G>A	9	107582341	107582341	G	A	ABCA1	c.2970C>T	NM_005502.4	NP_005493.2:p.(Val990=)	NC_000009.11:g.107582341G>A	(Likely) benign	1 lab	801da8e405
1:100715393 DBT C>G	1	100715393	100715393	C	G	DBT				NC_000001.10:g.100715393C>G	(Likely) benign	1 lab	801ed66b6b
16:21801889 MISSING Ref too long to show for this DEL>G	16	21801889	22431358	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.21801891_22431358del	(Likely) pathogenic	1 lab	80226e5016
16:74922130 WDR59 T>C	16	74922130	74922130	T	C	WDR59	c.2283A>G	NM_030581.4	NP_085058.3:p.(Leu761=)	NC_000016.9:g.74922130T>C	(Likely) benign	1 lab	8028748ea5
16:81410826 GAN G>A	16	81410826	81410826	G	A	GAN	c.1505G>A	NM_022041.4	NP_071324.1:p.(Trp502Ter)	NC_000016.9:g.81410826G>A	(Likely) pathogenic	1 lab	80329e727c
8:19819693 LPL A>G	8	19819693	19819693	A	G	LPL	c.1390A>G	NM_000237.3	NP_000228.1:p.(Lys464Glu)	NC_000008.10:g.19819693A>G	VUS	1 lab	80333527bc
18:19359506 MIB1 C>T	18	19359506	19359506	C	T	MIB1	c.768C>T	NM_020774.4	NP_065825.1:p.(Leu256=)	NC_000018.9:g.19359506C>T	(Likely) benign	1 lab	803493f1ce
14:67525320 MISSING T>Alt too long to show for this DUP	14	67525320	68161859	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.67525321_68161859dup	VUS	1 lab	80378c86a2
18:45395741 SMAD2 T>C	18	45395741	45395741	T	C	SMAD2	c.393A>G	NM_001003652.4	NP_001003652.1:p.(Leu131=)	NC_000018.9:g.45395741T>C	(Likely) benign	1 lab	803e5a6c53
6:32064547 TNXB G>C	6	32064547	32064547	G	C	TNXB	c.1083C>G	NM_019105.8	NP_061978.6:p.(Pro361=)	NC_000006.11:g.32064547G>C	(Likely) benign	1 lab	803e5e8f89
1:75005969 TNNI3K T>C	1	75005969	75005969	T	C	TNNI3K	c.2403T>C	NM_015978.3	NP_057062.1:p.(Ser801=)	NC_000001.10:g.75005969T>C	(Likely) benign	1 lab	803e5f673d
X:153649249 TAFAZZIN TGCGGAAA>T	X	153649249	153649258	TGCGGAAA	T	TAFAZZIN	c.788_794del	NM_000116.5	NP_000107.1:p.(Arg263ProfsTer2)	NC_000023.10:g.153649252_153649258del	(Likely) pathogenic	1 lab	8044103de7
17:36978723 MISSING C>Alt too long to show for this DUP	17	36978723	37073247	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.36978724_37073247dup	VUS	1 lab	8045ed1164
22:26936931 TPST2 G>A	22	26936931	26936931	G	A	TPST2	c.666C>T	NM_001008566.3	NP_001008566.1:p.(Tyr222=)	NC_000022.10:g.26936931G>A	(Likely) benign	1 lab	804aeca257
15:44912558 SPG11 T>C	15	44912558	44912558	T	C	SPG11	c.2664A>G	NM_025137.4	NP_079413.3:p.(Thr888=)	NC_000015.9:g.44912558T>C	(Likely) benign	1 lab	8051a14bd1
5:178409992 GRM6 G>A	5	178409992	178409992	G	A	GRM6	c.2355C>T	NM_000843.4	NP_000834.2:p.(Ile785=)	NC_000005.9:g.178409992G>A	(Likely) benign	1 lab	8051ab816e
4:100522783 MTTP T>C	4	100522783	100522783	T	C	MTTP	c.1256T>C	NM_000253.4	NP_000244.2:p.(Ile419Thr)	NC_000004.11:g.100522783T>C	(Likely) pathogenic	1 lab	8057d968d3
12:989140 WNK1 A>T	12	989140	989140	A	T	WNK1	c.2775A>T	NM_018979.4	NP_061852.3:p.(Pro925=)	NC_000012.11:g.989140A>T	(Likely) benign	1 lab	805a83d62f
5:138160422 CTNNA1 A>G	5	138160422	138160422	A	G	CTNNA1	c.792A>G	NM_001903.5	NP_001894.2:p.(Ser264=)	NC_000005.9:g.138160422A>G	(Likely) benign	1 lab	805a9f91e6
2:21228870 APOB C>T	2	21228870	21228870	C	T	APOB	c.10870G>A	NM_000384.3	NP_000375.3:p.(Ala3624Thr)	NC_000002.11:g.21228870C>T	VUS	1 lab	8060545978
10:67680251 CTNNA3 C>T	10	67680251	67680251	C	T	CTNNA3	c.2525G>A	NM_013266.4	NP_037398.2:p.(Arg842Gln)	NC_000010.10:g.67680251C>T	VUS	1 lab	8069076fda
X:70443676 GJB1 C>T	X	70443676	70443676	C	T	GJB1	c.119C>T	NM_000166.6	NP_000157.1:p.(Ala40Val)	NC_000023.10:g.70443676C>T	(Likely) pathogenic	1 lab	8069fb0db0
11:47367628 MYBPC3 G>A	11	47367628	47367628	G	A	MYBPC3	c.1090+130C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47367628G>A	(Likely) benign	1 lab	806ecfee8b
18:28666705 DSC2 C>T	18	28666705	28666705	C	T	DSC2	c.776G>A	NM_004949.5	NP_004940.1:p.(Gly259Asp)	NC_000018.9:g.28666705C>T	VUS	1 lab	807b5358eb
12:125298736 SCARB1 G>C	12	125298736	125298736	G	C	SCARB1	c.630+12C>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125298736G>C	(Likely) benign	1 lab	807e8894cc
9:522935 KANK1 Ref too long to show for this DEL>T	9	522935	639069	Ref too long to show for this DEL	T	KANK1	c.-84+18182_-83-37821del	NM_015158.5	NP_055973.2:p.?	NC_000009.11:g.522936_639069del	VUS	1 lab	808551ad31
2:44079608 ABCG8 A>G	2	44079608	44079608	A	G	ABCG8	c.677A>G	NM_022437.3	NP_071882.1:p.(Gln226Arg)	NC_000002.11:g.44079608A>G	VUS	1 lab	8088d67186
12:125348204 SCARB1 G>A	12	125348204	125348204	G	A	SCARB1	c.63C>T	NM_005505.5	NP_005496.4:p.(Cys21=)	NC_000012.11:g.125348204G>A	(Likely) benign	1 lab	808f4d46f3
3:128205108 GATA2 G>A	3	128205108	128205108	G	A	GATA2	c.333C>T	NM_032638.5	NP_116027.2:p.(His111=)	NC_000003.11:g.128205108G>A	(Likely) benign	1 lab	8095d2822a
12:53071338 KRT1 A>G	12	53071338	53071338	A	G	KRT1	c.964-74T>C	NM_006121.4	NP_006112.3:p.?	NC_000012.11:g.53071338A>G	(Likely) benign	1 lab	809d2a6966
10:73567607 CDH23 G>A	10	73567607	73567607	G	A	CDH23	c.8565G>A	NM_022124.6	NP_071407.4:p.(Val2855=)	NC_000010.10:g.73567607G>A	(Likely) benign	1 lab	80b54f4670
6:32011961 TNXB A>G	6	32011961	32011961	A	G	TNXB	c.11258-55T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011961A>G	(Likely) benign	1 lab	80b73e8413
7:100410474 EPHB4 G>C	7	100410474	100410474	G	C	EPHB4	c.2013C>G	NM_004444.5	NP_004435.3:p.(Phe671Leu)	NC_000007.13:g.100410474G>C	VUS	1 lab	80c085a35c
19:9446700 ZNF559 Ref too long to show for this DEL>A	19	9446700	9455932	Ref too long to show for this DEL	A	ZNF559	c.-119-1771_*2188del	NM_032497.3	NP_115886.1:p.0?	NC_000019.9:g.9446701_9455932del	VUS	1 lab	80c519258c
9:133556930 PRDM12 C>T	9	133556930	133556930	C	T	PRDM12	c.978C>T	NM_021619.3	NP_067632.2:p.(Pro326=)	NC_000009.11:g.133556930C>T	(Likely) benign	1 lab	80c6069fb3
1:156843395 NTRK1 C>A	1	156843395	156843395	C	A	NTRK1	c.851-30C>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156843395C>A	(Likely) benign	1 lab	80ce8b3b37
13:32971112 BRCA2 C>T	13	32971112	32971112	C	T	BRCA2	c.9579C>T	NM_000059.4	NP_000050.3:p.(Thr3193=)	NC_000013.10:g.32971112C>T	(Likely) benign	1 lab	80cf7f0fc2
22:19704780 MISSING Ref too long to show for this DEL>C	22	19704780	20104143	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.19704781_20104143del	(Likely) pathogenic	1 lab	80d351373f
2:220342669 SPEG C>T	2	220342669	220342669	C	T	SPEG	c.4869C>T	NM_005876.5	NP_005867.3:p.(Ser1623=)	NC_000002.11:g.220342669C>T	(Likely) benign	1 lab	80d3cee0c1
22:20719111 MISSING C>Alt too long to show for this DUP	22	20719111	21125397	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.20719112_21125397dup	VUS	1 lab	80d5a6ba65
7:5168758 MISSING Ref too long to show for this DEL>T	7	5168758	5287932	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.5168759_5287932del	VUS	1 lab	80e094efed
10:55719622 PCDH15 A>G	10	55719622	55719622	A	G	PCDH15	c.3025-18T>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55719622A>G	(Likely) benign	1 lab	80e1ec2a68
2:211342472 CPS1 G>A	2	211342472	211342472	G	A	CPS1	c.-34G>A	NM_001122633.3	NP_001116105.2:p.?	NC_000002.11:g.211342472G>A	(Likely) benign	1 lab	80e22d99e1
5:127607826 FBN2 C>A	5	127607826	127607826	C	A	FBN2	c.7841-16G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127607826C>A	(Likely) benign	1 lab	80e249a96d
2:1491575 TPO G>A	2	1491575	1491575	G	A	TPO	c.1598-18G>A	NM_001206744.2	NP_001193673.1:p.?	NC_000002.11:g.1491575G>A	(Likely) benign	1 lab	80e4cdeea5
9:133543700 PRDM12 G>GGT	9	133543700	133543717	G	GGT	PRDM12	c.570+16_570+17dup	NM_021619.3	NP_067632.2:p.?	NC_000009.11:g.133543716_133543717dup	(Likely) benign	1 lab	80ee3c3ffa
10:58108195 MISSING T>Alt too long to show for this DUP	10	58108195	58167474	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.58108196_58167474dup	VUS	1 lab	80f089650e
2:21263940 APOB G>T	2	21263940	21263940	G	T	APOB	c.253C>A	NM_000384.3	NP_000375.3:p.(Pro85Thr)	NC_000002.11:g.21263940G>T	VUS	1 lab	80f2251763
11:65320264 LTBP3 G>T	11	65320264	65320264	G	T	LTBP3	c.1186+67C>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65320264G>T	(Likely) benign	1 lab	80f24cdefb
2:179457643 TTN CAG>C	2	179457643	179457645	CAG	C	TTN	c.59201_59202del	NM_001267550.2	NP_001254479.2:p.(Pro19734ArgfsTer5)	NC_000002.11:g.179457644_179457645del	(Likely) pathogenic	1 lab	80fc436811
2:21242781 APOB G>A	2	21242781	21242781	G	A	APOB	c.2817-4C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242781G>A	VUS	1 lab	80ff2556ee
10:61830584 ANK3 T>C	10	61830584	61830584	T	C	ANK3	c.10055A>G	NM_020987.5	NP_066267.2:p.(Glu3352Gly)	NC_000010.10:g.61830584T>C	(Likely) benign	1 lab	8100138799
12:63238591 MISSING A>Alt too long to show for this DUP	12	63238591	63551036	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.63238592_63551036dup	VUS	1 lab	810123f632
2:179498227 TTN TTAAG>T	2	179498227	179498231	TTAAG	T	TTN	c.42855_42858del	NM_001267550.2	NP_001254479.2:p.(Leu14286LysfsTer32)	NC_000002.11:g.179498228_179498231del	(Likely) benign	1 lab	810ca488ea
15:48749068 FBN1 T>TGTGTGTGTGTGTGCGC	15	48749068	48749070	T	TGTGTGTGTGTGTGCGC	FBN1	c.5297-110_5297-109insGCGCACACACACACAC	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48749069_48749070insTGTGTGTGTGTGCGCG	(Likely) benign	1 lab	81102bce04
16:70894062 HYDIN C>T	16	70894062	70894062	C	T	HYDIN	c.12038G>A	NM_001270974.2	NP_001257903.1:p.(Trp4013Ter)	NC_000016.9:g.70894062C>T	(Likely) pathogenic	1 lab	8114099464
22:37163341 IFT27 A>T	22	37163341	37163341	A	T	IFT27	c.174+9T>A	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37163341A>T	(Likely) benign	1 lab	811436aec1
16:57012228 CETP G>A	16	57012228	57012228	G	A	CETP	c.1146+61G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012228G>A	(Likely) benign	1 lab	811563c85b
2:182430146 CERKL T>TTTATATCAC	2	182430146	182430157	T	TTTATATCAC	CERKL	c.755+5_755+13dup	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182430149_182430157dup	(Likely) benign	1 lab	8115ec7bfe
12:64849613 TBK1 C>T	12	64849613	64849613	C	T	TBK1	c.-31-7C>T	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64849613C>T	(Likely) benign	1 lab	811b99df05
2:15542296 NBAS A>G	2	15542296	15542296	A	G	NBAS	c.3067T>C	NM_015909.4	NP_056993.2:p.(Tyr1023His)	NC_000002.11:g.15542296A>G	VUS	1 lab	811dff9497
10:88459126 LDB3 A>C	10	88459126	88459126	A	C	LDB3	c.1192A>C	NM_001171611.2	NP_001165082.1:p.(Ser398Arg)	NC_000010.10:g.88459126A>C	VUS	1 lab	811f8fe6a3
15:58855778 LIPC T>C	15	58855778	58855778	T	C	LIPC	c.1244T>C	NM_000236.3	NP_000227.2:p.(Met415Thr)	NC_000015.9:g.58855778T>C	VUS	1 lab	8121a22263
4:100533659 MTTP C>T	4	100533659	100533659	C	T	MTTP	c.1990-411C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100533659C>T	(Likely) benign	1 lab	8121c1f864
10:27703023 PTCHD3 A>G	10	27703023	27703023	A	G	PTCHD3	c.157T>C	NM_001034842.4	NP_001030014.2:p.(Ser53Pro)	NC_000010.10:g.27703023A>G	(Likely) benign	1 lab	81249438d3
2:215452875 MISSING Ref too long to show for this DEL>A	2	215452875	215647314	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.215452876_215647314del	VUS	1 lab	8126809fc4
14:21775949 RPGRIP1 A>G	14	21775949	21775949	A	G	RPGRIP1	c.860A>G	NM_020366.4	NP_065099.3:p.(Asn287Ser)	NC_000014.8:g.21775949A>G	(Likely) benign	1 lab	812e233db3
2:39240584 SOS1 T>TA	2	39240584	39240595	T	TA	SOS1	c.2167+16dup	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39240595dup	(Likely) benign	1 lab	8130422dcf
13:32899290 BRCA2 T>C	13	32899290	32899290	T	C	BRCA2	c.394T>C	NM_000059.4	NP_000050.3:p.(Cys132Arg)	NC_000013.10:g.32899290T>C	(Likely) benign	1 lab	81319d27ab
4:647793 PDE6B G>A	4	647793	647793	G	A	PDE6B	c.852+12G>A	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.647793G>A	(Likely) benign	1 lab	813834fec2
10:90981909 LIPA T>TA	10	90981909	90981917	T	TA	LIPA	c.894+358dup	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90981917dup	(Likely) benign	1 lab	813ba9cfe6
10:88441257 LDB3 GCCCAGGCAC>G	10	88441257	88441278	GCCCAGGCAC	G	LDB3	c.399_407del	NM_001171610.2	NP_001165081.1:p.(Gly134_Pro136del)	NC_000010.10:g.88441270_88441278del	VUS	1 lab	813f1ee3bf
3:195511012 MUC4 G>T	3	195511012	195511012	G	T	MUC4	c.7439C>A	NM_018406.7	NP_060876.5:p.(Pro2480His)	NC_000003.11:g.195511012G>T	(Likely) benign	1 lab	813f6a8f4f
17:15162502 PMP22 G>A	17	15162502	15162502	G	A	PMP22	c.87C>T	NM_000304.4	NP_000295.1:p.(Ile29=)	NC_000017.10:g.15162502G>A	(Likely) benign	1 lab	8142594f60
19:11224091 LDLR T>C	19	11224091	11224091	T	C	LDLR	c.1324T>C	NM_000527.5	NP_000518.1:p.(Tyr442His)	NC_000019.9:g.11224091T>C	(Likely) pathogenic	1 lab	81531db0b3
1:3350384 PRDM16 G>A	1	3350384	3350384	G	A	PRDM16	c.*9G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350384G>A	(Likely) benign	1 lab	8154ac1cde
7:128488544 FLNC C>T	7	128488544	128488544	C	T	FLNC	c.4581-71C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488544C>T	(Likely) benign	1 lab	8155f08f56
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	815722e3e9
2:179474219 TTN C>T	2	179474219	179474219	C	T	TTN	c.51818G>A	NM_001267550.2	NP_001254479.2:p.(Gly17273Glu)	NC_000002.11:g.179474219C>T	VUS	1 lab	815c66f715
1:40966131 MISSING Ref too long to show for this DEL>G	1	40966131	40999475	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.40966132_40999475del	VUS	1 lab	81640b28f2
22:29091174 CHEK2 T>C	22	29091174	29091174	T	C	CHEK2	c.1316A>G	NM_007194.4	NP_009125.1:p.(Gln439Arg)	NC_000022.10:g.29091174T>C	VUS	1 lab	8164aae9d1
1:75009590 TNNI3K G>T	1	75009590	75009590	G	T	TNNI3K	c.2432G>T	NM_015978.3	NP_057062.1:p.(Gly811Val)	NC_000001.10:g.75009590G>T	VUS	1 lab	8165b96d4c
20:5092253 TMEM230 TAAAAAAAAAAAAAAAAAAAAAAAA>T	20	5092253	5092293	TAAAAAAAAAAAAAAAAAAAAAAAA	T	TMEM230	c.-121-26_-121-3del	NM_001009924.2	NP_001009924.1:p.?	NC_000020.10:g.5092270_5092293del	(Likely) benign	1 lab	816a571f16
17:41215927 BRCA1 C>G	17	41215927	41215927	C	G	BRCA1	c.5116G>C	NM_007294.4	NP_009225.1:p.(Gly1706Arg)	NC_000017.10:g.41215927C>G	VUS	1 lab	817259a580
7:43689063 COA1 G>Alt too long to show for this DUP	7	43689063	43704543	G	Alt too long to show for this DUP	COA1	c.-38-16292_-38-813dup	NM_018224.4	NP_060694.2:p.?	NC_000007.13:g.43689064_43704543dup	VUS	1 lab	817abb6e3a
9:107579818 ABCA1 T>C	9	107579818	107579818	T	C	ABCA1	c.3463-133A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107579818T>C	(Likely) benign	1 lab	817ce8c58d
15:58840623 LIPC G>A	15	58840623	58840623	G	A	LIPC	c.903G>A	NM_000236.3	NP_000227.2:p.(Pro301=)	NC_000015.9:g.58840623G>A	(Likely) benign	1 lab	817dcca9c5
17:15164009 PMP22 G>T	17	15164009	15164009	G	T	PMP22	c.36C>A	NM_000304.4	NP_000295.1:p.(His12Gln)	NC_000017.10:g.15164009G>T	(Likely) pathogenic	1 lab	8180790149
15:44892727 SPG11 T>C	15	44892727	44892727	T	C	SPG11	c.3624A>G	NM_025137.4	NP_079413.3:p.(Pro1208=)	NC_000015.9:g.44892727T>C	(Likely) benign	1 lab	8184d24414
18:77193726 NFATC1 C>T	18	77193726	77193726	C	T	NFATC1	c.1374C>T	NM_001278669.2	NP_001265598.1:p.(His458=)	NC_000018.9:g.77193726C>T	(Likely) benign	1 lab	818a70d9af
9:100617186 FOXE1 C>T	9	100617186	100617186	C	T	FOXE1	c.990C>T	NM_004473.4	NP_004464.2:p.(Pro330=)	NC_000009.11:g.100617186C>T	(Likely) benign	1 lab	818fa56319
20:50406856 SALL4 T>C	20	50406856	50406856	T	C	SALL4	c.2166A>G	NM_020436.5	NP_065169.1:p.(Leu722=)	NC_000020.10:g.50406856T>C	(Likely) benign	1 lab	819491ed6d
9:113208250 SVEP1 T>G	9	113208250	113208250	T	G	SVEP1	c.4330A>C	NM_153366.4	NP_699197.3:p.(Met1444Leu)	NC_000009.11:g.113208250T>G	(Likely) benign	1 lab	8197f894f3
11:116701574 APOC3 G>A	11	116701574	116701574	G	A	APOC3	c.141G>A	NM_000040.3	NP_000031.1:p.(Leu47=)	NC_000011.9:g.116701574G>A	(Likely) benign	1 lab	81a1301906
2:21228352 APOB C>G	2	21228352	21228352	C	G	APOB	c.11388G>C	NM_000384.3	NP_000375.3:p.(Val3796=)	NC_000002.11:g.21228352C>G	(Likely) benign	1 lab	81a1fed744
15:28090112 OCA2 A>T	15	28090112	28090112	A	T	OCA2	c.2425T>A	NM_000275.3	NP_000266.2:p.(Phe809Ile)	NC_000015.9:g.28090112A>T	(Likely) pathogenic	1 lab	81a2bf89df
5:179252134 SQSTM1 T>TA	5	179252134	179252139	T	TA	SQSTM1	c.674-7dup	NM_003900.5	NP_003891.1:p.?	NC_000005.9:g.179252139dup	(Likely) benign	1 lab	81a8d36a35
12:108575486 WSCD2 A>Alt too long to show for this DUP	12	108575486	108604309	A	Alt too long to show for this DUP	WSCD2	c.-551-13572_682+227dup	NM_014653.4	NP_055468.2:p.?	NC_000012.11:g.108575487_108604309dup	VUS	1 lab	81b006e580
8:42995702 HGSNAT G>A	8	42995702	42995702	G	A	HGSNAT	c.63G>A	NM_152419.3	NP_689632.2:p.(Ala21=)	NC_000008.10:g.42995702G>A	(Likely) benign	1 lab	81b1825be5
16:56544841 MISSING T>Alt too long to show for this DUP	16	56544841	56792600	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.56544842_56792600dup	VUS	1 lab	81b6456631
17:37821714 TCAP C>T	17	37821714	37821714	C	T	TCAP	c.102C>T	NM_003673.4	NP_003664.1:p.(Pro34=)	NC_000017.10:g.37821714C>T	(Likely) benign	1 lab	81b8d7aac7
22:50895482 SBF1 G>GGAGGCC	22	50895482	50895495	G	GGAGGCC	SBF1	c.3879_3884dup	NM_002972.4	NP_002963.2:p.(Ala1294_Ser1295dup)	NC_000022.10:g.50895490_50895495dup	VUS	1 lab	81ba99a568
X:102051787 MISSING Ref too long to show for this DEL>T	X	102051787	102358507	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.102051788_102358507del	VUS	1 lab	81bdddb036
5:149499618 PDGFRB G>A	5	149499618	149499618	G	A	PDGFRB	c.2655C>T	NM_002609.4	NP_002600.1:p.(Asp885=)	NC_000005.9:g.149499618G>A	(Likely) benign	1 lab	81c072199c
2:21230984 APOB A>G	2	21230984	21230984	A	G	APOB	c.8756T>C	NM_000384.3	NP_000375.3:p.(Ile2919Thr)	NC_000002.11:g.21230984A>G	VUS	1 lab	81c3484076
9:35057102 VCP G>A	9	35057102	35057102	G	A	VCP	c.*12C>T	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35057102G>A	(Likely) benign	1 lab	81c539703d
2:219674424 CYP27A1 G>A	2	219674424	219674424	G	A	CYP27A1	c.380G>A	NM_000784.4	NP_000775.1:p.(Arg127Gln)	NC_000002.11:g.219674424G>A	(Likely) pathogenic	1 lab	81ca69e871
6:7581672 DSP T>G	6	7581672	7581672	T	G	DSP	c.5249T>G	NM_004415.4	NP_004406.2:p.(Leu1750Trp)	NC_000006.11:g.7581672T>G	VUS	1 lab	81cff610ca
6:170115957 PHF10 G>GA	6	170115957	170115967	G	GA	PHF10	c.544-5dup	NM_018288.4	NP_060758.2:p.?	NC_000006.11:g.170115967dup	(Likely) benign	1 lab	81d06d7cef
20:2641103 IDH3B A>G	20	2641103	2641103	A	G	IDH3B	c.665T>C	NM_006899.5	NP_008830.2:p.(Met222Thr)	NC_000020.10:g.2641103A>G	VUS	1 lab	81d54ab025
10:90974777 LIPA C>T	10	90974777	90974777	C	T	LIPA	c.1008G>A	NM_000235.4	NP_000226.2:p.(Pro336=)	NC_000010.10:g.90974777C>T	(Likely) benign	1 lab	81d71916ad
4:106345381 PPA2 C>T	4	106345381	106345381	C	T	PPA2	c.627G>A	NM_176869.3	NP_789845.1:p.(Ala209=)	NC_000004.11:g.106345381C>T	(Likely) benign	1 lab	81d8e66a21
16:15815444 MYH11 C>T	16	15815444	15815444	C	T	MYH11	c.4413G>A	NM_002474.3	NP_002465.1:p.(Arg1471=)	NC_000016.9:g.15815444C>T	(Likely) benign	1 lab	81db7908c3
22:37773496 MISSING T>Alt too long to show for this DUP	22	37773496	38009904	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.37773498_38009904dup	VUS	1 lab	81e01d0362
10:16528354 PTER A>G	10	16528354	16528354	A	G	PTER	c.436A>G	NM_030664.5	NP_109589.2:p.(Thr146Ala)	NC_000010.10:g.16528354A>G	(Likely) benign	1 lab	81e35f0dce
10:92675611 ANKRD1 C>T	10	92675611	92675611	C	T	ANKRD1	c.678G>A	NM_014391.3	NP_055206.2:p.(Ala226=)	NC_000010.10:g.92675611C>T	(Likely) benign	1 lab	81ea12affe
1:244541720 MISSING Ref too long to show for this DEL>C	1	244541720	244626173	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.244541722_244626173del	VUS	1 lab	81eb3b7c01
5:95764944 PCSK1 G>A	5	95764944	95764944	G	A	PCSK1	c.258C>T	NM_000439.5	NP_000430.3:p.(Ile86=)	NC_000005.9:g.95764944G>A	(Likely) benign	1 lab	81eb54ecf9
9:107580657 ABCA1 G>A	9	107580657	107580657	G	A	ABCA1	c.3462+287C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580657G>A	(Likely) benign	1 lab	81ef989ce4
1:21902200 ALPL C>T	1	21902200	21902200	C	T	ALPL	c.998-26C>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21902200C>T	(Likely) benign	1 lab	81f1f69114
17:64635006 MISSING T>Alt too long to show for this DUP	17	64635006	64888651	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.64635009_64888651dup	VUS	1 lab	81f211f0da
20:50413722 SALL4 Ref too long to show for this DEL>T	20	50413722	50419767	Ref too long to show for this DEL	T	SALL4				NC_000020.10:g.50413725_50419767del	VUS	1 lab	81f8efdee7
1:25870175 LDLRAP1 C>T	1	25870175	25870175	C	T	LDLRAP1	c.-15C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25870175C>T	(Likely) benign	1 lab	81fe09f1da
2:179495864 TTN G>A	2	179495864	179495864	G	A	TTN	c.43911C>T	NM_001267550.2	NP_001254479.2:p.(Gly14637=)	NC_000002.11:g.179495864G>A	VUS	1 lab	8207c18e55
16:88504586 ZNF469 G>A	16	88504586	88504586	G	A	ZNF469	c.10708G>A	NM_001367624.2	NP_001354553.1:p.(Ala3570Thr)	NC_000016.9:g.88504586G>A	(Likely) benign	1 lab	820be6c633
11:105774685 GRIA4 A>T	11	105774685	105774685	A	T	GRIA4	c.1031A>T	NM_001077243.3	NP_001070711.3:p.(Asp344Val)	NC_000011.9:g.105774685A>T	VUS	1 lab	820e65ad27
18:19379929 MIB1 T>C	18	19379929	19379929	T	C	MIB1	c.1365T>C	NM_020774.4	NP_065825.1:p.(Asp455=)	NC_000018.9:g.19379929T>C	(Likely) benign	1 lab	821465ba55
3:38591853 SCN5A A>T	3	38591853	38591853	A	T	SCN5A	c.6010T>A	NM_198056.3	NP_932173.1:p.(Phe2004Ile)	NC_000003.11:g.38591853A>T	VUS	1 lab	82246b9b88
10:28906691 WAC C>T	10	28906691	28906691	C	T	WAC	c.1717C>T	NM_100264.3	NP_567822.1:p.(Gln573Ter)	NC_000010.10:g.28906691C>T	(Likely) pathogenic	1 lab	822d5ec9e4
11:1018255 MUC6 A>T	11	1018255	1018255	A	T	MUC6	c.4546T>A	NM_005961.3	NP_005952.2:p.(Phe1516Ile)	NC_000011.9:g.1018255A>T	(Likely) benign	1 lab	823262c84b
2:121685008 GLI2 C>T	2	121685008	121685008	C	T	GLI2	c.220C>T	NM_001371271.1	NP_001358200.1:p.(His74Tyr)	NC_000002.11:g.121685008C>T	VUS	1 lab	823da4b30a
10:92678740 ANKRD1 AATAAATAAAT>A	10	92678740	92678753	AATAAATAAAT	A	ANKRD1	c.346-21_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678753del	(Likely) benign	1 lab	823f8b3107
4:1980621 NSD2 C>T	4	1980621	1980621	C	T	NSD2	c.4083C>T	NM_133330.3	NP_579877.1:p.(Val1361=)	NC_000004.11:g.1980621C>T	VUS	1 lab	8242e52666
7:94011252 MISSING Ref too long to show for this DEL>C	7	94011252	94031954	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.94011254_94031954del	(Likely) pathogenic	1 lab	8248816e52
2:1665874 PXDN G>A	2	1665874	1665874	G	A	PXDN	c.1650C>T	NM_012293.3	NP_036425.1:p.(Gly550=)	NC_000002.11:g.1665874G>A	VUS	1 lab	824d9ac11d
9:94877671 SPTLC1 G>A	9	94877671	94877671	G	A	SPTLC1	c.-19C>T	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94877671G>A	(Likely) benign	1 lab	82591a06d1
22:41922447 ACO2 GCTA>G	22	41922447	41922454	GCTA	G	ACO2	c.1948_1950del	NM_001098.3	NP_001089.1:p.(Tyr650del)	NC_000022.10:g.41922452_41922454del	VUS	1 lab	825adbcf9e
10:295013 ZMYND11 CAAG>C	10	295013	295022	CAAG	C	ZMYND11	c.1678_1680del	NM_006624.7	NP_006615.2:p.(Lys560del)	NC_000010.10:g.295020_295022del	VUS	1 lab	825dbf341e
9:119461212 ASTN2 C>G	9	119461212	119461212	C	G	ASTN2	c.2653+26838G>C	NM_014010.5	NP_054729.3:p.?	NC_000009.11:g.119461212C>G	(Likely) benign	1 lab	82607b7e72
3:38674590 SCN5A T>C	3	38674590	38674590	T	C	SCN5A	c.209A>G	NM_198056.3	NP_932173.1:p.(Asn70Ser)	NC_000003.11:g.38674590T>C	VUS	1 lab	82614edaa0
16:66957519 RRAD C>T	16	66957519	66957519	C	T	RRAD	c.549G>A	NM_001128850.2	NP_001122322.1:p.(Leu183=)	NC_000016.9:g.66957519C>T	(Likely) benign	1 lab	82680ad903
2:21263886 APOB A>G	2	21263886	21263886	A	G	APOB	c.307T>C	NM_000384.3	NP_000375.3:p.(Tyr103His)	NC_000002.11:g.21263886A>G	(Likely) benign	1 lab	826a62d5f2
1:55529157 PCSK9 A>C	1	55529157	55529157	A	C	PCSK9	c.1979A>C	NM_174936.4	NP_777596.2:p.(Asp660Ala)	NC_000001.10:g.55529157A>C	VUS	1 lab	826c797fea
10:94397017 KIF11 A>G	10	94397017	94397017	A	G	KIF11	c.1952A>G	NM_004523.4	NP_004514.2:p.(Asn651Ser)	NC_000010.10:g.94397017A>G	(Likely) benign	1 lab	826dff8add
2:179616501 TTN C>A	2	179616501	179616501	C	A	TTN	c.10626G>T	NM_133379.5	NP_596870.2:p.(Arg3542=)	NC_000002.11:g.179616501C>A	(Likely) benign	1 lab	82708046b8
2:21229635 APOB A>G	2	21229635	21229635	A	G	APOB	c.10105T>C	NM_000384.3	NP_000375.3:p.(Ser3369Pro)	NC_000002.11:g.21229635A>G	VUS	1 lab	8271f579d0
2:225376215 CUL3 G>A	2	225376215	225376215	G	A	CUL3	c.739C>T	NM_003590.5	NP_003581.1:p.(Arg247Ter)	NC_000002.11:g.225376215G>A	(Likely) pathogenic	1 lab	8276b67b0a
X:153641902 TAFAZZIN G>A	X	153641902	153641902	G	A	TAFAZZIN	c.368G>A	NM_000116.5	NP_000107.1:p.(Arg123Gln)	NC_000023.10:g.153641902G>A	VUS	1 lab	8277259df7
2:179472610 TTN C>T	2	179472610	179472610	C	T	TTN	c.45200G>A	NM_133378.4	NP_596869.4:p.(Arg15067Gln)	NC_000002.11:g.179472610C>T	VUS	1 lab	8278046c21
1:109486557 CLCC1 T>C	1	109486557	109486557	T	C	CLCC1	c.462A>G	NM_001048210.3	NP_001041675.1:p.(Ala154=)	NC_000001.10:g.109486557T>C	(Likely) benign	1 lab	827df63cc8
16:29478057 MISSING G>Alt too long to show for this DUP	16	29478057	30199352	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29478060_30199352dup	(Likely) pathogenic	1 lab	827e25d9d0
14:36988385 NKX2-1 G>GC	14	36988385	36988389	G	GC	NKX2-1	c.267dup	NM_001079668.3	NP_001073136.1:p.(His90AlafsTer349)	NC_000014.8:g.36988389dup	(Likely) pathogenic	1 lab	82805306c4
X:15346943 PIGA Ref too long to show for this DEL>A	X	15346943	15354687	Ref too long to show for this DEL	A	PIGA				NC_000023.10:g.15346944_15354687del	VUS	1 lab	8280b69984
X:153590362 FLNA G>A	X	153590362	153590362	G	A	FLNA	c.2811C>T	NM_001110556.2	NP_001104026.1:p.(Tyr937=)	NC_000023.10:g.153590362G>A	(Likely) benign	1 lab	828300bc8d
X:153297746 MECP2 C>T	X	153297746	153297746	C	T	MECP2	c.10G>A	NM_001369391.2	NP_001356320.1:p.(Asp4Asn)	NC_000023.10:g.153297746C>T	(Likely) pathogenic	1 lab	8291099f7d
2:69787349 AAK1 Ref too long to show for this DEL>T	2	69787349	69818697	Ref too long to show for this DEL	T	AAK1	c.164-34586_164-3240del	NM_014911.5	NP_055726.4:p.?	NC_000002.11:g.69787351_69818697del	VUS	1 lab	82965ebfcf
6:123892174 TRDN C>T	6	123892174	123892174	C	T	TRDN	c.126G>A	NM_006073.4	NP_006064.2:p.(Thr42=)	NC_000006.11:g.123892174C>T	(Likely) benign	1 lab	8297b79779
7:73462547 ELN C>T	7	73462547	73462547	C	T	ELN	c.745+16C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73462547C>T	(Likely) benign	1 lab	82d7405985
16:21113719 DNAH3 G>Alt too long to show for this DUP	16	21113719	21128878	G	Alt too long to show for this DUP	DNAH3	c.1498-218_2228+2072dup	NM_001347886.2	NP_001334815.1:p.?	NC_000016.9:g.21113720_21128878dup	VUS	1 lab	82a439b38b
13:101893498 NALCN Ref too long to show for this DEL>T	13	101893498	101932933	Ref too long to show for this DEL	T	NALCN	c.1134+3352_1267-3226del	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101893500_101932933del	VUS	1 lab	82a484ede8
18:48573268 SMAD4 CT>C	18	48573268	48573280	CT	C	SMAD4	c.-127-10del	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573280del	(Likely) benign	1 lab	82a96d68ed
2:85766554 MAT2A G>A	2	85766554	85766554	G	A	MAT2A	c.91+53G>A	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85766554G>A	(Likely) benign	1 lab	82ac763848
9:98240437 PTCH1 G>C	9	98240437	98240437	G	C	PTCH1	c.1247C>G	NM_000264.5	NP_000255.2:p.(Thr416Ser)	NC_000009.11:g.98240437G>C	(Likely) benign	1 lab	82b032b93b
4:65188408 TECRL G>A	4	65188408	65188408	G	A	TECRL	c.434C>T	NM_001010874.5	NP_001010874.2:p.(Thr145Ile)	NC_000004.11:g.65188408G>A	VUS	1 lab	82b8a8de5c
10:35314130 CUL2 TAA>T	10	35314130	35314146	TAA	T	CUL2	c.1657-6_1657-5del	NM_001198779.1	NP_001185708.1:p.?	NC_000010.10:g.35314145_35314146del	(Likely) benign	1 lab	82bdc2e8d6
8:145620541 CPSF1 C>T	8	145620541	145620541	C	T	CPSF1	c.3126G>A	NM_013291.3	NP_037423.2:p.(Thr1042=)	NC_000008.10:g.145620541C>T	(Likely) benign	1 lab	82c02af744
11:47364833 MYBPC3 G>A	11	47364833	47364833	G	A	MYBPC3	c.1224-20C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364833G>A	(Likely) benign	1 lab	82c0505463
10:865596 MISSING C>Alt too long to show for this DUP	10	865596	1605768	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.865597_1605768dup	VUS	1 lab	82c189a8c8
4:16168293 TAPT1 C>T	4	16168293	16168293	C	T	TAPT1	c.1437G>A	NM_153365.3	NP_699196.2:p.(Pro479=)	NC_000004.11:g.16168293C>T	(Likely) benign	1 lab	82c315a8e4
2:96952176 SNRNP200 C>T	2	96952176	96952176	C	T	SNRNP200	c.3876G>A	NM_014014.5	NP_054733.2:p.(Pro1292=)	NC_000002.11:g.96952176C>T	(Likely) benign	1 lab	82cc6e881e
3:50357631 HYAL2 T>G	3	50357631	50357631	T	G	HYAL2	c.290A>C	NM_033158.5	NP_149348.2:p.(His97Pro)	NC_000003.11:g.50357631T>G	VUS	1 lab	82d574a109
8:41806786 KAT6A G>A	8	41806786	41806786	G	A	KAT6A	c.1694C>T	NM_006766.5	NP_006757.2:p.(Pro565Leu)	NC_000008.10:g.41806786G>A	VUS	1 lab	82d69f2d68
7:140482843 BRAF G>A	7	140482843	140482843	G	A	BRAF	c.1292C>T	NM_001354609.2	NP_001341538.1:p.(Ser431Phe)	NC_000007.13:g.140482843G>A	(Likely) benign	1 lab	82d6afc03d
1:5933407 NPHP4 G>A	1	5933407	5933407	G	A	NPHP4	c.3232-12C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5933407G>A	(Likely) benign	1 lab	82d92bbe44
6:76640854 IMPG1 G>A	6	76640854	76640854	G	A	IMPG1	c.2059C>T	NM_001563.4	NP_001554.2:p.(Pro687Ser)	NC_000006.11:g.76640854G>A	VUS	1 lab	82e45a0adf
21:38309460 HLCS G>A	21	38309460	38309460	G	A	HLCS	c.285C>T	NM_001242784.3	NP_001229713.1:p.(Pro95=)	NC_000021.8:g.38309460G>A	(Likely) benign	1 lab	82eb7431c2
15:48800815 FBN1 C>A	15	48800815	48800815	C	A	FBN1	c.1801G>T	NM_000138.5	NP_000129.3:p.(Gly601Ter)	NC_000015.9:g.48800815C>A	(Likely) pathogenic	1 lab	82ec872e5a
18:58039134 MC4R G>A	18	58039134	58039134	G	A	MC4R	c.449C>T	NM_005912.3	NP_005903.2:p.(Thr150Ile)	NC_000018.9:g.58039134G>A	(Likely) pathogenic	1 lab	82ef9ab978
8:100673568 VPS13B T>C	8	100673568	100673568	T	C	VPS13B	c.5984-14T>C	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100673568T>C	(Likely) benign	1 lab	82f1ba008b
15:45884450 BLOC1S6 C>G	15	45884450	45884450	C	G	BLOC1S6	c.200C>G	NM_012388.4	NP_036520.1:p.(Ser67Ter)	NC_000015.9:g.45884450C>G	VUS	1 lab	82f8872a2f
1:55527240 PCSK9 C>G	1	55527240	55527240	C	G	PCSK9	c.1863+11C>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527240C>G	(Likely) benign	1 lab	82f8b01383
2:179434884 TTN C>A	2	179434884	179434884	C	A	TTN	c.75975G>T	NM_001267550.2	NP_001254479.2:p.(Trp25325Cys)	NC_000002.11:g.179434884C>A	VUS	1 lab	82fa93ba38
20:54824071 MC3R C>T	20	54824071	54824071	C	T	MC3R	c.172C>T	NM_019888.3	NP_063941.3:p.(Leu58=)	NC_000020.10:g.54824071C>T	(Likely) benign	1 lab	82fc556e25
15:48805838 FBN1 C>G	15	48805838	48805838	C	G	FBN1	c.1496G>C	NM_000138.5	NP_000129.3:p.(Cys499Ser)	NC_000015.9:g.48805838C>G	(Likely) pathogenic	1 lab	82fce069fc
14:102516035 DYNC1H1 C>T	14	102516035	102516035	C	T	DYNC1H1	c.13516-16C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102516035C>T	(Likely) benign	1 lab	82fdf8777a
3:37785432 ITGA9 C>A	3	37785432	37785432	C	A	ITGA9	c.2340C>A	NM_002207.3	NP_002198.2:p.(Thr780=)	NC_000003.11:g.37785432C>A	(Likely) benign	1 lab	830181d76a
14:89336468 TTC8 T>C	14	89336468	89336468	T	C	TTC8	c.1023T>C	NM_001288781.1	NP_001275710.1:p.(His341=)	NC_000014.8:g.89336468T>C	(Likely) benign	1 lab	8301a36c9b
14:23872996 MYH6 G>T	14	23872996	23872996	G	T	MYH6	c.736-9C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872996G>T	VUS	1 lab	8329168a20
9:80856689 CEP78 GCAGAT>G	9	80856689	80856696	GCAGAT	G	CEP78	c.580_584del	NM_001349839.2	NP_001336768.1:p.(Asp194HisfsTer14)	NC_000009.11:g.80856692_80856696del	(Likely) pathogenic	1 lab	83035826b1
16:88500655 ZNF469 G>A	16	88500655	88500655	G	A	ZNF469	c.6777G>A	NM_001367624.2	NP_001354553.1:p.(Glu2259=)	NC_000016.9:g.88500655G>A	(Likely) benign	1 lab	830ad26d24
4:22390393 ADGRA3 A>G	4	22390393	22390393	A	G	ADGRA3	c.2901T>C	NM_145290.4	NP_660333.2:p.(Asn967=)	NC_000004.11:g.22390393A>G	(Likely) benign	1 lab	830af3fbeb
16:21773091 MISSING Ref too long to show for this DEL>A	16	21773091	22470230	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.21773092_22470230del	(Likely) pathogenic	1 lab	830d576e6c
4:100544118 MTTP G>C	4	100544118	100544118	G	C	MTTP	c.*113G>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100544118G>C	(Likely) benign	1 lab	830f23f4c4
1:236906250 ACTN2 T>G	1	236906250	236906250	T	G	ACTN2	c.1162T>G	NM_001103.4	NP_001094.1:p.(Trp388Gly)	NC_000001.10:g.236906250T>G	VUS	1 lab	831399c27b
9:12899316 MISSING Ref too long to show for this DEL>A	9	12899316	13053799	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.12899318_13053799del	VUS	1 lab	8313ee9d45
11:17491571 ABCC8 C>T	11	17491571	17491571	C	T	ABCC8	c.412+77G>A	NM_001287174.2	NP_001274103.1:p.?	NC_000011.9:g.17491571C>T	(Likely) benign	1 lab	831635cf79
16:960955 LMF1 C>T	16	960955	960955	C	T	LMF1	c.240G>A	NM_001352018.2	NP_001338947.1:p.(Leu80=)	NC_000016.9:g.960955C>T	(Likely) benign	1 lab	831d802396
14:73664751 PSEN1 T>C	14	73664751	73664751	T	C	PSEN1	c.782T>C	NM_000021.4	NP_000012.1:p.(Val261Ala)	NC_000014.8:g.73664751T>C	(Likely) pathogenic	1 lab	83201f92e9
20:34061245 CEP250 T>G	20	34061245	34061245	T	G	CEP250	c.1256T>G	NM_007186.6	NP_009117.2:p.(Leu419Trp)	NC_000020.10:g.34061245T>G	VUS	1 lab	83206e0f52
11:68133235 LRP5 C>T	11	68133235	68133235	C	T	LRP5	c.1015+65C>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68133235C>T	(Likely) benign	1 lab	83222c1cdc
12:32949137 PKP2 A>G	12	32949137	32949137	A	G	PKP2	c.2395T>C	NM_004572.4	NP_004563.2:p.(Leu799=)	NC_000012.11:g.32949137A>G	(Likely) benign	1 lab	832b86493c
X:134711159 INTS6L A>G	X	134711159	134711159	A	G	INTS6L	c.1926A>G	NM_001351601.3	NP_001338530.1:p.(Pro642=)	NC_000023.10:g.134711159A>G	(Likely) benign	1 lab	8336985baf
10:74810913 P4HA1 T>C	10	74810913	74810913	T	C	P4HA1	c.798A>G	NM_000917.4	NP_000908.2:p.(Gln266=)	NC_000010.10:g.74810913T>C	(Likely) benign	1 lab	833753b7aa
6:33356344 MISSING Ref too long to show for this DEL>C	6	33356344	33406339	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.33356345_33406339del	(Likely) pathogenic	1 lab	8337e936a3
11:49974835 OR4C13 G>A	11	49974835	49974835	G	A	OR4C13	c.861G>A	NM_001001955.2	NP_001001955.2:p.(Leu287=)	NC_000011.9:g.49974835G>A	(Likely) benign	1 lab	833d20be3d
16:75664399 KARS1 C>G	16	75664399	75664399	C	G	KARS1	c.1430G>C	NM_001130089.2	NP_001123561.1:p.(Gly477Ala)	NC_000016.9:g.75664399C>G	VUS	1 lab	833f411c26
13:32913773 BRCA2 G>A	13	32913773	32913773	G	A	BRCA2	c.5281G>A	NM_000059.4	NP_000050.3:p.(Gly1761Arg)	NC_000013.10:g.32913773G>A	(Likely) benign	1 lab	8341fad08f
2:211513215 CPS1 G>A	2	211513215	211513215	G	A	CPS1	c.3355G>A	NM_001875.5	NP_001866.2:p.(Ala1119Thr)	NC_000002.11:g.211513215G>A	(Likely) benign	1 lab	834e31d618
11:45937306 PEX16 C>T	11	45937306	45937306	C	T	PEX16	c.307G>A	NM_004813.4	NP_004804.2:p.(Val103Met)	NC_000011.9:g.45937306C>T	(Likely) benign	1 lab	83517453f7
7:151372599 PRKAG2 G>C	7	151372599	151372599	G	C	PRKAG2	c.591C>G	NM_016203.4	NP_057287.2:p.(Pro197=)	NC_000007.13:g.151372599G>C	(Likely) benign	1 lab	8359481146
4:184600571 TRAPPC11 C>A	4	184600571	184600571	C	A	TRAPPC11	c.897C>A	NM_021942.6	NP_068761.4:p.(Ile299=)	NC_000004.11:g.184600571C>A	(Likely) benign	1 lab	835aea5c03
7:98506642 TRRAP A>AT	7	98506642	98506664	A	AT	TRRAP	c.1350+79dup	NM_001244580.2	NP_001231509.1:p.?	NC_000007.13:g.98506664dup	(Likely) benign	1 lab	83656d1d90
1:3334486 PRDM16 C>A	1	3334486	3334486	C	A	PRDM16	c.2786C>A	NM_022114.4	NP_071397.3:p.(Pro929His)	NC_000001.10:g.3334486C>A	(Likely) benign	1 lab	836d62a2c6
16:31202807 FUS G>C	16	31202807	31202807	G	C	FUS	n.1699G>C	NR_028388.2		NC_000016.9:g.31202807G>C	VUS	1 lab	8371ebea77
5:127872670 FBN2 G>A	5	127872670	127872670	G	A	FBN2	c.254+373C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127872670G>A	(Likely) benign	1 lab	8373e84a01
Y:2355259 MISSING T>Alt too long to show for this DUP	Y	2355259	2407951	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.2355262_2407951dup	VUS	1 lab	83752f3c89
19:11233678 LDLR G>C	19	11233678	11233678	G	C	LDLR	c.2141-172G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233678G>C	(Likely) benign	1 lab	8377f58f8f
7:75609699 POR G>T	7	75609699	75609699	G	T	POR	c.409G>T	NM_000941.3	NP_000932.3:p.(Val137Phe)	NC_000007.13:g.75609699G>T	VUS	1 lab	838835fc1b
9:79922941 VPS13A C>T	9	79922941	79922941	C	T	VPS13A	c.4041C>T	NM_033305.3	NP_150648.2:p.(Ala1347=)	NC_000009.11:g.79922941C>T	(Likely) benign	1 lab	8389a9f488
1:16414032 MISSING T>Alt too long to show for this DUP	1	16414032	16857903	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.16414033_16857903dup	VUS	1 lab	8389c1cf47
10:100202982 HPS1 C>T	10	100202982	100202982	C	T	HPS1	c.16G>A	NM_000195.5	NP_000186.2:p.(Val6Met)	NC_000010.10:g.100202982C>T	VUS	1 lab	838c1daefb
16:28837009 ATXN2L G>A	16	28837009	28837009	G	A	ATXN2L	c.393+8G>A	NM_148414.3	NP_680780.1:p.?	NC_000016.9:g.28837009G>A	(Likely) benign	1 lab	838c8963cc
9:107624330 ABCA1 TAC>T	9	107624330	107624357	TAC	T	ABCA1	c.422-251_422-250del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624356_107624357del	(Likely) benign	1 lab	839aedc634
15:23686162 GOLGA6L2 T>A	15	23686162	23686162	T	A	GOLGA6L2	c.1460A>T	NM_001304388.2	NP_001291317.1:p.(Glu487Val)	NC_000015.9:g.23686162T>A	(Likely) benign	1 lab	839d310c21
16:28898805 ATP2A1 C>T	16	28898805	28898805	C	T	ATP2A1	c.690C>T	NM_004320.6	NP_004311.1:p.(Thr230=)	NC_000016.9:g.28898805C>T	(Likely) benign	1 lab	839f67515a
8:1842670 ARHGEF10 A>G	8	1842670	1842670	A	G	ARHGEF10	c.1447A>G	NM_001308153.2	NP_001295082.1:p.(Ile483Val)	NC_000008.10:g.1842670A>G	VUS	1 lab	83a9290d9e
2:241659255 KIF1A C>T	2	241659255	241659255	C	T	KIF1A	c.5032G>A	NM_001379631.1	NP_001366560.1:p.(Ala1678Thr)	NC_000002.11:g.241659255C>T	VUS	1 lab	83afe3e2e2
X:70443735 GJB1 T>A	X	70443735	70443735	T	A	GJB1	c.178T>A	NM_000166.6	NP_000157.1:p.(Cys60Ser)	NC_000023.10:g.70443735T>A	VUS	1 lab	83b0e374bb
9:79244208 PRUNE2 TA>T	9	79244208	79244222	TA	T	PRUNE2	c.9051-3del	NM_015225.3	NP_056040.2:p.?	NC_000009.11:g.79244222del	(Likely) benign	1 lab	83bdc43b60
6:56504348 DST G>C	6	56504348	56504348	G	C	DST	c.2759C>G	NM_001374736.1	NP_001361665.1:p.(Thr920Ser)	NC_000006.11:g.56504348G>C	VUS	1 lab	83c012fd87
8:59410791 CYP7A1 C>T	8	59410791	59410791	C	T	CYP7A1	c.318G>A	NM_000780.4	NP_000771.2:p.(Ala106=)	NC_000008.10:g.59410791C>T	(Likely) benign	1 lab	83c03b4f40
2:21229232 APOB G>A	2	21229232	21229232	G	A	APOB	c.10508C>T	NM_000384.3	NP_000375.3:p.(Ser3503Leu)	NC_000002.11:g.21229232G>A	(Likely) benign	1 lab	83c38408c3
7:6043312 PMS2 T>G	7	6043312	6043312	T	G	PMS2	c.353+9A>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043312T>G	(Likely) benign	1 lab	83c83544b4
16:67208115 NOL3 G>T	16	67208115	67208115	G	T	NOL3	c.43G>T	NM_001276312.2	NP_001263241.1:p.(Glu15Ter)	NC_000016.9:g.67208115G>T	VUS	1 lab	83cd309d9e
7:81746447 CACNA2D1 G>T	7	81746447	81746447	G	T	CACNA2D1	c.439C>A	NM_000722.4	NP_000713.2:p.(Pro147Thr)	NC_000007.13:g.81746447G>T	VUS	1 lab	83d396d31d
11:17483314 ABCC8 A>G	11	17483314	17483314	A	G	ABCC8	c.638T>C	NM_001287174.2	NP_001274103.1:p.(Leu213Pro)	NC_000011.9:g.17483314A>G	(Likely) pathogenic	1 lab	83d43fb31b
19:11227558 LDLR T>G	19	11227558	11227558	T	G	LDLR	c.1729T>G	NM_000527.5	NP_000518.1:p.(Trp577Gly)	NC_000019.9:g.11227558T>G	(Likely) pathogenic	1 lab	83d5884be0
12:9038571 MISSING Ref too long to show for this DEL>C	12	9038571	9091797	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.9038573_9091797del	VUS	1 lab	83d6be626e
16:14780541 MISSING Ref too long to show for this DEL>G	16	14780541	16855348	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.14780543_16855348del	(Likely) pathogenic	1 lab	83d9c2ff52
16:1004578 LMF1 G>A	16	1004578	1004578	G	A	LMF1	c.282C>T	NM_022773.4	NP_073610.2:p.(Phe94=)	NC_000016.9:g.1004578G>A	(Likely) benign	1 lab	83ded46da0
18:19321787 MIB1 A>G	18	19321787	19321787	A	G	MIB1	c.229+14A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19321787A>G	(Likely) benign	1 lab	83e3b1f364
2:179563607 TTN T>G	2	179563607	179563607	T	G	TTN	c.30717A>C	NM_001267550.2	NP_001254479.2:p.(Lys10239Asn)	NC_000002.11:g.179563607T>G	(Likely) benign	1 lab	83e4201b9d
2:220284976 DES G>A	2	220284976	220284976	G	A	DES	c.643G>A	NM_001927.4	NP_001918.3:p.(Val215Met)	NC_000002.11:g.220284976G>A	VUS	1 lab	83e51986c5
16:920878 LMF1 G>A	16	920878	920878	G	A	LMF1	c.1083C>T	NM_022773.4	NP_073610.2:p.(Ser361=)	NC_000016.9:g.920878G>A	(Likely) benign	1 lab	83e9389d4e
12:125271942 SCARB1 G>A	12	125271942	125271942	G	A	SCARB1	c.1260+4C>T	NM_001367983.1	NP_001354912.1:p.?	NC_000012.11:g.125271942G>A	VUS	1 lab	83ee7d7c60
16:1003952 LMF1 CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACAG>C	16	1003952	1004066	CACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACGTCCACACAGACACAG	C	LMF1	c.-52+295_-52+404del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003957_1004066del	(Likely) benign	1 lab	83f1b23fe3
9:107578595 ABCA1 C>T	9	107578595	107578595	C	T	ABCA1	c.3567G>A	NM_005502.4	NP_005493.2:p.(Lys1189=)	NC_000009.11:g.107578595C>T	(Likely) benign	1 lab	83f3da5f0e
7:73482758 ELN C>T	7	73482758	73482758	C	T	ELN	c.2132-229C>T	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73482758C>T	(Likely) benign	1 lab	83f56b3972
1:151397427 POGZ T>C	1	151397427	151397427	T	C	POGZ	c.1158+4A>G	NM_001194937.2	NP_001181866.1:p.?	NC_000001.10:g.151397427T>C	(Likely) pathogenic	1 lab	83fb510666
22:51065816 ARSA G>A	22	51065816	51065816	G	A	ARSA	c.243C>T	NM_000487.6	NP_000478.3:p.(Gly81=)	NC_000022.10:g.51065816G>A	(Likely) benign	1 lab	83fda9f445
5:82833584 VCAN C>A	5	82833584	82833584	C	A	VCAN	c.4762C>A	NM_004385.5	NP_004376.2:p.(Pro1588Thr)	NC_000005.9:g.82833584C>A	(Likely) benign	1 lab	84048261c9
6:16130781 MYLIP GT>G	6	16130781	16130785	GT	G	MYLIP	c.88-3del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16130785del	VUS	1 lab	8404fa314a
3:37053549 MLH1 C>T	3	37053549	37053549	C	T	MLH1	c.636C>T	NM_000249.4	NP_000240.1:p.(Thr212=)	NC_000003.11:g.37053549C>T	(Likely) benign	1 lab	840819cb8c
2:128747385 SAP130 C>T	2	128747385	128747385	C	T	SAP130	c.1611G>A	NM_001145928.2	NP_001139400.1:p.(Ala537=)	NC_000002.11:g.128747385C>T	(Likely) benign	1 lab	840b24f947
2:1440100 TPO C>T	2	1440100	1440100	C	T	TPO	c.426C>T	NM_001206744.2	NP_001193673.1:p.(Cys142=)	NC_000002.11:g.1440100C>T	(Likely) benign	1 lab	84108dac18
2:179429101 TTN T>C	2	179429101	179429101	T	C	TTN	c.81758A>G	NM_001267550.2	NP_001254479.2:p.(Asn27253Ser)	NC_000002.11:g.179429101T>C	(Likely) benign	1 lab	8411dd168a
17:44068968 MAPT T>C	17	44068968	44068968	T	C	MAPT	c.556+16T>C	NM_005910.6	NP_005901.2:p.?	NC_000017.10:g.44068968T>C	(Likely) benign	1 lab	8414a394d3
4:114296076 ANK2 C>T	4	114296076	114296076	C	T	ANK2	c.11859+1471C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114296076C>T	(Likely) benign	1 lab	8415a0a599
6:123869769 TRDN TAA>T	6	123869769	123869784	TAA	T	TRDN	c.233-14_233-13del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123869783_123869784del	(Likely) benign	1 lab	8415fa25b4
2:170350312 BBS5 A>G	2	170350312	170350312	A	G	BBS5	c.584A>G	NM_152384.3	NP_689597.1:p.(Asp195Gly)	NC_000002.11:g.170350312A>G	(Likely) benign	1 lab	841bb4b98e
8:55534814 RP1 C>T	8	55534814	55534814	C	T	RP1	c.753C>T	NM_006269.2	NP_006260.1:p.(Tyr251=)	NC_000008.10:g.55534814C>T	(Likely) benign	1 lab	841bcc39ed
12:121878639 KDM2B G>A	12	121878639	121878639	G	A	KDM2B	c.3590C>T	NM_032590.5	NP_115979.3:p.(Pro1197Leu)	NC_000012.11:g.121878639G>A	VUS	1 lab	841ec2453e
9:107582305 ABCA1 C>T	9	107582305	107582305	C	T	ABCA1	c.3006G>A	NM_005502.4	NP_005493.2:p.(Gly1002=)	NC_000009.11:g.107582305C>T	(Likely) benign	1 lab	84232e28ad
X:70444008 GJB1 T>C	X	70444008	70444008	T	C	GJB1	c.451T>C	NM_000166.6	NP_000157.1:p.(Tyr151His)	NC_000023.10:g.70444008T>C	(Likely) pathogenic	1 lab	842be2d5aa
6:26156875 H1-4 G>T	6	26156875	26156875	G	T	H1-4	c.257G>T	NM_005321.3	NP_005312.1:p.(Ser86Ile)	NC_000006.11:g.26156875G>T	VUS	1 lab	8430d414fd
7:100404031 EPHB4 G>A	7	100404031	100404031	G	A	EPHB4	c.2484+11C>T	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100404031G>A	(Likely) benign	1 lab	84374d9719
16:282144 MISSING Ref too long to show for this DEL>A	16	282144	351807	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.282147_351807del	VUS	1 lab	843b878092
3:38812866 SCN10A G>T	3	38812866	38812866	G	T	SCN10A	c.503C>A	NM_006514.4	NP_006505.4:p.(Ala168Asp)	NC_000003.11:g.38812866G>T	(Likely) benign	1 lab	843dca26df
13:32906782 BRCA2 G>A	13	32906782	32906782	G	A	BRCA2	c.1167G>A	NM_000059.4	NP_000050.3:p.(Pro389=)	NC_000013.10:g.32906782G>A	(Likely) benign	1 lab	8441540b52
2:179459287 TTN C>T	2	179459287	179459287	C	T	TTN	c.57934G>A	NM_001267550.2	NP_001254479.2:p.(Gly19312Ser)	NC_000002.11:g.179459287C>T	VUS	1 lab	84441ed441
6:32011317 TNXB T>C	6	32011317	32011317	T	C	TNXB	c.11541A>G	NM_019105.8	NP_061978.6:p.(Thr3847=)	NC_000006.11:g.32011317T>C	(Likely) benign	1 lab	844a93d88f
6:150420018 MISSING A>Alt too long to show for this DUP	6	150420018	150947540	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.150420019_150947540dup	VUS	1 lab	844c3e7ec7
1:63067494 ANGPTL3 T>G	1	63067494	63067494	T	G	ANGPTL3	c.776T>G	NM_014495.4	NP_055310.1:p.(Met259Arg)	NC_000001.10:g.63067494T>G	(Likely) benign	1 lab	844e39586e
1:158167339 MISSING T>Alt too long to show for this DUP	1	158167339	158431269	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.158167340_158431269dup	VUS	1 lab	8452574884
22:33647532 MISSING C>Alt too long to show for this DUP	22	33647532	33727050	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.33647534_33727050dup	VUS	1 lab	8453dd99ad
3:38739421 SCN10A G>C	3	38739421	38739421	G	C	SCN10A	c.5290C>G	NM_006514.4	NP_006505.4:p.(Leu1764Val)	NC_000003.11:g.38739421G>C	VUS	1 lab	845468a933
10:73553153 CDH23 C>A	10	73553153	73553153	C	A	CDH23	c.6468C>A	NM_022124.6	NP_071407.4:p.(Gly2156=)	NC_000010.10:g.73553153C>A	(Likely) benign	1 lab	845548e36d
19:11215912 LDLR C>G	19	11215912	11215912	C	G	LDLR	c.330C>G	NM_000527.5	NP_000518.1:p.(Ser110=)	NC_000019.9:g.11215912C>G	(Likely) benign	1 lab	8457711f74
X:153693964 PLXNA3 T>A	X	153693964	153693964	T	A	PLXNA3	c.2342-36T>A	NM_017514.5	NP_059984.3:p.?	NC_000023.10:g.153693964T>A	VUS	1 lab	84ca4b6b13
16:920072 LMF1 G>A	16	920072	920072	G	A	LMF1	c.834-6C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920072G>A	(Likely) benign	1 lab	845b70d741
1:11907409 NPPA CCG>C	1	11907409	11907412	CCG	C	NPPA	c.209_210del	NM_006172.4	NP_006163.1:p.(Ala70GlyfsTer9)	NC_000001.10:g.11907411_11907412del	VUS	1 lab	845e0db4f0
3:38991569 SCN11A C>CG	3	38991569	38991570	C	CG	SCN11A	c.267+17_267+18insC	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38991569_38991570insG	(Likely) benign	1 lab	845efc0fb1
2:220284997 DES C>G	2	220284997	220284997	C	G	DES	c.664C>G	NM_001927.4	NP_001918.3:p.(Arg222Gly)	NC_000002.11:g.220284997C>G	VUS	1 lab	846226a45a
12:33031446 PKP2 C>T	12	33031446	33031446	C	T	PKP2	c.368G>A	NM_004572.4	NP_004563.2:p.(Trp123Ter)	NC_000012.11:g.33031446C>T	(Likely) pathogenic	1 lab	846344a47c
19:55329848 KIR3DL1 A>G	19	55329848	55329848	A	G	KIR3DL1	c.149A>G	NM_013289.3	NP_037421.2:p.(His50Arg)	NC_000019.9:g.55329848A>G	(Likely) benign	1 lab	846a1dc608
20:47991056 KCNB1 G>C	20	47991056	47991056	G	C	KCNB1	c.1041C>G	NM_004975.4	NP_004966.1:p.(Ser347Arg)	NC_000020.10:g.47991056G>C	(Likely) pathogenic	1 lab	846a5ab234
5:32712409 NPR3 G>T	5	32712409	32712409	G	T	NPR3	c.527G>T	NM_001204375.2	NP_001191304.1:p.(Arg176Leu)	NC_000005.9:g.32712409G>T	(Likely) pathogenic	1 lab	8475517757
19:11222188 LDLR A>G	19	11222188	11222188	A	G	LDLR	c.1061-2A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222188A>G	(Likely) pathogenic	1 lab	84757bf611
3:196143523 MISSING T>Alt too long to show for this DUP	3	196143523	196577481	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.196143524_196577481dup	(Likely) pathogenic	1 lab	84764cbe14
4:16176370 TAPT1 T>C	4	16176370	16176370	T	C	TAPT1	c.1108-18A>G	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16176370T>C	(Likely) benign	1 lab	8477208459
2:219677360 CYP27A1 C>T	2	219677360	219677360	C	T	CYP27A1	c.732C>T	NM_000784.4	NP_000775.1:p.(Ile244=)	NC_000002.11:g.219677360C>T	(Likely) benign	1 lab	8477638912
12:124401060 DNAH10 C>T	12	124401060	124401060	C	T	DNAH10	c.10425C>T	NM_207437.3	NP_997320.2:p.(Tyr3475=)	NC_000012.11:g.124401060C>T	(Likely) benign	1 lab	847cb995e8
2:179571171 TTN T>C	2	179571171	179571171	T	C	TTN	c.29420+10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179571171T>C	(Likely) benign	1 lab	84840b19ea
X:22010788 SMS A>G	X	22010788	22010788	A	G	SMS	c.1019A>G	NM_004595.5	NP_004586.2:p.(Glu340Gly)	NC_000023.10:g.22010788A>G	VUS	1 lab	8484e3baa2
19:11230868 LDLR C>A	19	11230868	11230868	C	A	LDLR	c.1946C>A	NM_000527.5	NP_000518.1:p.(Pro649Gln)	NC_000019.9:g.11230868C>A	VUS	1 lab	8484f60f58
17:44374826 LRRC37A G>A	17	44374826	44374826	G	A	LRRC37A	c.2327G>A	NM_014834.4	NP_055649.4:p.(Arg776His)	NC_000017.10:g.44374826G>A	(Likely) benign	1 lab	848891403d
17:45229209 CDC27 T>C	17	45229209	45229209	T	C	CDC27	c.1051A>G	NM_001114091.4	NP_001107563.1:p.(Ile351Val)	NC_000017.10:g.45229209T>C	(Likely) benign	1 lab	849210d96d
1:6046325 NPHP4 T>G	1	6046325	6046325	T	G	NPHP4	c.25A>C	NM_015102.5	NP_055917.1:p.(Thr9Pro)	NC_000001.10:g.6046325T>G	VUS	1 lab	8494db900d
11:116701905 APOC3 ATTTCTTTC>A	11	116701905	116701973	ATTTCTTTC	A	APOC3	c.179+354_179+361del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701966_116701973del	(Likely) benign	1 lab	849c4e3799
2:47703539 MSH2 G>A	2	47703539	47703539	G	A	MSH2	c.2039G>A	NM_000251.3	NP_000242.1:p.(Arg680Gln)	NC_000002.11:g.47703539G>A	VUS	1 lab	849e72441d
16:944559 LMF1 C>T	16	944559	944559	C	T	LMF1	c.265-1487G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.944559C>T	(Likely) benign	1 lab	849ecc7ebc
9:129648202 MISSING Ref too long to show for this DEL>G	9	129648202	130486843	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.129648203_130486843del	(Likely) pathogenic	1 lab	84a9056ce6
16:57003816 CETP C>A	16	57003816	57003816	C	A	CETP	c.440-10C>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003816C>A	VUS	1 lab	84aa2fa75a
X:53263500 IQSEC2 G>T	X	53263500	53263500	G	T	IQSEC2	c.4368C>A	NM_001111125.3	NP_001104595.1:p.(Ser1456=)	NC_000023.10:g.53263500G>T	(Likely) benign	1 lab	84ad2e2d32
6:135811333 MISSING A>Alt too long to show for this DUP	6	135811333	135901062	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.135811335_135901062dup	VUS	1 lab	84afdd1692
16:88495872 ZNF469 C>T	16	88495872	88495872	C	T	ZNF469	c.1994C>T	NM_001367624.2	NP_001354553.1:p.(Pro665Leu)	NC_000016.9:g.88495872C>T	(Likely) benign	1 lab	84b1ed6a8a
2:233127976 DIS3L2 G>A	2	233127976	233127976	G	A	DIS3L2	c.1485G>A	NM_152383.5	NP_689596.4:p.(Glu495=)	NC_000002.11:g.233127976G>A	(Likely) benign	1 lab	84b2cae5e6
10:112540716 RBM20 G>A	10	112540716	112540716	G	A	RBM20	c.349G>A	NM_001134363.3	NP_001127835.2:p.(Ala117Thr)	NC_000010.10:g.112540716G>A	VUS	1 lab	84b3888bd4
17:45297252 MYL4 T>C	17	45297252	45297252	T	C	MYL4	c.164-18T>C	NM_001002841.2	NP_001002841.1:p.?	NC_000017.10:g.45297252T>C	(Likely) benign	1 lab	84b450d16e
3:170204096 SLC7A14 G>A	3	170204096	170204096	G	A	SLC7A14	c.821C>T	NM_020949.3	NP_066000.2:p.(Thr274Ile)	NC_000003.11:g.170204096G>A	(Likely) benign	1 lab	84b8529221
9:107585345 ABCA1 GA>G	9	107585345	107585358	GA	G	ABCA1	c.2657-398del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107585358del	(Likely) benign	1 lab	84b92b7f05
2:193143783 MISSING C>Alt too long to show for this DUP	2	193143783	193944612	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.193143789_193944612dup	VUS	1 lab	84b99c46cb
2:179634387 TTN TA>T	2	179634387	179634388	TA	T	TTN	c.8902+18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179634388del	(Likely) benign	1 lab	84bd5d52d0
17:48423516 XYLT2 G>A	17	48423516	48423516	G	A	XYLT2	c.15G>A	NM_022167.4	NP_071450.2:p.(Ala5=)	NC_000017.10:g.48423516G>A	(Likely) benign	1 lab	84c3be1b2e
15:45439654 DUOX1 C>T	15	45439654	45439654	C	T	DUOX1	c.2346C>T	NM_017434.5	NP_059130.2:p.(Asp782=)	NC_000015.9:g.45439654C>T	(Likely) benign	1 lab	84c50f9d04
10:92678738 ANKRD1 A>AAAAT	10	92678738	92678751	A	AAAAT	ANKRD1	c.346-13_346-10dup	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678748_92678751dup	(Likely) benign	1 lab	84c5239bd0
2:179306432 PRKRA C>CAGTTTCCATAAATGACTCTAGCCTGCAAATTGTAGTATATTCTCTCTTATGAGCAGG	2	179306432	179306433	C	CAGTTTCCATAAATGACTCTAGCCTGCAAATTGTAGTATATTCTCTCTTATGAGCAGG	PRKRA	c.482-2_482-1insCCTGCTCATAAGAGAGAATATACTACAATTTGCAGGCTAGAGTCATTTATGGAAACT	NM_001139517.1	NP_001132989.1:p.?	NC_000002.11:g.179306432_179306433insAGTTTCCATAAATGACTCTAGCCTGCAAATTGTAGTATATTCTCTCTTATGAGCAGG	(Likely) benign	1 lab	84ccfdefb0
15:45391640 DUOX2 G>A	15	45391640	45391640	G	A	DUOX2	c.3456C>T	NM_001363711.2	NP_001350640.1:p.(Phe1152=)	NC_000015.9:g.45391640G>A	VUS	1 lab	84cdcdd83e
17:48275821 COL1A1 G>A	17	48275821	48275821	G	A	COL1A1	c.516C>T	NM_000088.4	NP_000079.2:p.(Thr172=)	NC_000017.10:g.48275821G>A	(Likely) benign	1 lab	84d1c4c01f
2:21230631 APOB G>A	2	21230631	21230631	G	A	APOB	c.9109C>T	NM_000384.3	NP_000375.3:p.(Leu3037Phe)	NC_000002.11:g.21230631G>A	VUS	1 lab	84d2882f18
2:219647148 CYP27A1 G>A	2	219647148	219647148	G	A	CYP27A1	c.243G>A	NM_000784.4	NP_000775.1:p.(Leu81=)	NC_000002.11:g.219647148G>A	(Likely) benign	1 lab	84d2940178
2:44102415 ABCG8 T>C	2	44102415	44102415	T	C	ABCG8	c.1619T>C	NM_022437.3	NP_071882.1:p.(Phe540Ser)	NC_000002.11:g.44102415T>C	VUS	1 lab	84d4c56f0c
3:58107100 FLNB G>C	3	58107100	58107100	G	C	FLNB	c.2996G>C	NM_001164317.2	NP_001157789.1:p.(Arg999Pro)	NC_000003.11:g.58107100G>C	VUS	1 lab	84d4db9bb7
11:47358040 MYBPC3 CAAAAAAAAA>C	11	47358040	47358064	CAAAAAAAAA	C	MYBPC3	c.2603-487_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358056_47358064del	(Likely) benign	1 lab	84d5358ff9
7:43508560 HECW1 C>T	7	43508560	43508560	C	T	HECW1	c.2955C>T	NM_015052.5	NP_055867.3:p.(His985=)	NC_000007.13:g.43508560C>T	(Likely) benign	1 lab	84dc5cdf37
6:32009520 TNXB A>T	6	32009520	32009520	A	T	TNXB	c.12627+28T>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009520A>T	(Likely) benign	1 lab	84e15e2b2b
12:1902881 CACNA2D4 C>T	12	1902881	1902881	C	T	CACNA2D4	c.3354G>A	NM_172364.5	NP_758952.4:p.(Ser1118=)	NC_000012.11:g.1902881C>T	(Likely) benign	1 lab	84e5134100
15:60715963 ICE2 T>C	15	60715963	60715963	T	C	ICE2	c.2821-2A>G	NM_024611.6	NP_078887.2:p.?	NC_000015.9:g.60715963T>C	VUS	1 lab	84e99b0493
5:127595788 FBN2 C>T	5	127595788	127595788	C	T	FBN2	c.8365-267G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127595788C>T	(Likely) benign	1 lab	84eec3b4d7
19:11227601 LDLR A>AT	19	11227601	11227602	A	AT	LDLR	c.1772_1773insT	NM_000527.5	NP_000518.1:p.(Gly592ArgfsTer11)	NC_000019.9:g.11227601_11227602insT	(Likely) pathogenic	1 lab	84f170bf59
15:58838664 LIPC G>C	15	58838664	58838664	G	C	LIPC	c.808+490G>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58838664G>C	(Likely) benign	1 lab	84f7d277b2
12:23972652 SOX5 Ref too long to show for this DEL>G	12	23972652	24034761	Ref too long to show for this DEL	G	SOX5	c.270+13966_481+26264del	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.23972653_24034761del	(Likely) pathogenic	1 lab	84fbe15d65
2:179472552 TTN C>T	2	179472552	179472552	C	T	TTN	c.52962G>A	NM_001267550.2	NP_001254479.2:p.(Pro17654=)	NC_000002.11:g.179472552C>T	(Likely) benign	1 lab	84fc9ee24f
10:102768554 PDZD7 G>A	10	102768554	102768554	G	A	PDZD7	c.2772C>T	NM_001195263.2	NP_001182192.1:p.(His924=)	NC_000010.10:g.102768554G>A	(Likely) benign	1 lab	850171af18
10:18439808 CACNB2 T>TTTTTTG	10	18439808	18439810	T	TTTTTTG	CACNB2	c.37-3_37-2insTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTGT	(Likely) benign	1 lab	8506cf049d
1:155631470 YY1AP1 G>A	1	155631470	155631470	G	A	YY1AP1	c.1294-256C>T	NM_001198903.1	NP_001185832.1:p.?	NC_000001.10:g.155631470G>A	(Likely) benign	1 lab	8509ccde75
19:11230649 LDLR TG>T	19	11230649	11230650	TG	T	LDLR	c.1846-118del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230650del	(Likely) benign	1 lab	850c62d953
6:143090933 HIVEP2 C>T	6	143090933	143090933	C	T	HIVEP2	c.4943G>A	NM_006734.4	NP_006725.3:p.(Ser1648Asn)	NC_000006.11:g.143090933C>T	VUS	1 lab	850c69d738
20:10393527 MKKS G>A	20	10393527	10393527	G	A	MKKS	c.636C>T	NM_018848.3	NP_061336.1:p.(Ser212=)	NC_000020.10:g.10393527G>A	(Likely) benign	1 lab	850cbd4352
11:49076963 TRIM64C C>CA	11	49076963	49076973	C	CA	TRIM64C	c.762-5dup	NM_001206631.1	NP_001193560.1:p.?	NC_000011.9:g.49076973dup	(Likely) benign	1 lab	850e0c18ae
3:188130632 LPP G>Alt too long to show for this DUP	3	188130632	188190102	G	Alt too long to show for this DUP	LPP	c.193+6532_194-12278dup	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.188130633_188190102dup	VUS	1 lab	8515a152ba
2:179408973 TTN C>T	2	179408973	179408973	C	T	TTN	c.88279G>A	NM_133378.4	NP_596869.4:p.(Glu29427Lys)	NC_000002.11:g.179408973C>T	VUS	1 lab	85190e97b5
Y:14968772 USP9Y TA>T	Y	14968772	14968784	TA	T	USP9Y	c.7434+14del	NM_004654.4	NP_004645.2:p.?	NC_000024.9:g.14968784del	(Likely) benign	1 lab	851c89f978
19:50321579 MED25 T>C	19	50321579	50321579	T	C	MED25	c.-20T>C	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50321579T>C	(Likely) benign	1 lab	851d0d188e
21:44478367 CBS T>A	21	44478367	44478367	T	A	CBS	c.1359-4A>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44478367T>A	(Likely) benign	1 lab	851de28889
1:156104966 LMNA C>T	1	156104966	156104966	C	T	LMNA	c.811-12C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104966C>T	(Likely) benign	1 lab	851eb38e8b
16:46781785 MYLK3 G>A	16	46781785	46781785	G	A	MYLK3	c.321C>T	NM_182493.3	NP_872299.2:p.(His107=)	NC_000016.9:g.46781785G>A	(Likely) benign	1 lab	851eddaa3b
11:44219356 EXT2 C>T	11	44219356	44219356	C	T	EXT2	c.1405-23C>T	NM_000401.3	NP_000392.3:p.?	NC_000011.9:g.44219356C>T	(Likely) benign	1 lab	851fc2522b
9:107581042 ABCA1 G>A	9	107581042	107581042	G	A	ABCA1	c.3364C>T	NM_005502.4	NP_005493.2:p.(Leu1122=)	NC_000009.11:g.107581042G>A	(Likely) benign	1 lab	852140520c
8:18830505 MISSING Ref too long to show for this DEL>A	8	18830505	19341240	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.18830506_19341240del	VUS	1 lab	852a05f212
10:100177473 HPS1 G>A	10	100177473	100177473	G	A	HPS1	c.1951C>T	NM_000195.5	NP_000186.2:p.(Arg651Cys)	NC_000010.10:g.100177473G>A	VUS	1 lab	852f5ffbe9
13:32950905 BRCA2 G>A	13	32950905	32950905	G	A	BRCA2	c.8731G>A	NM_000059.4	NP_000050.3:p.(Ala2911Thr)	NC_000013.10:g.32950905G>A	(Likely) benign	1 lab	853de0715f
6:33142012 COL11A2 AG>A	6	33142012	33142018	AG	A	COL11A2	c.2431-18del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33142018del	(Likely) benign	1 lab	853ea77f7f
2:44079493 ABCG8 G>A	2	44079493	44079493	G	A	ABCG8	c.562G>A	NM_022437.3	NP_071882.1:p.(Val188Met)	NC_000002.11:g.44079493G>A	VUS	1 lab	854ae81197
2:21252755 APOB A>G	2	21252755	21252755	A	G	APOB	c.1470+15T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252755A>G	(Likely) benign	1 lab	854bf2bc20
7:16317859 CRPPA TA>T	7	16317859	16317870	TA	T	CRPPA	c.836-9del	NM_001101426.4	NP_001094896.1:p.?	NC_000007.13:g.16317870del	(Likely) benign	1 lab	85509ba537
1:23385638 KDM1A T>G	1	23385638	23385638	T	G	KDM1A	c.1145T>G	NM_001009999.3	NP_001009999.1:p.(Leu382Arg)	NC_000001.10:g.23385638T>G	VUS	1 lab	85599b4105
6:32010721 TNXB G>A	6	32010721	32010721	G	A	TNXB	c.11919+7C>T	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010721G>A	(Likely) benign	1 lab	855a96bc36
X:70443954 GJB1 T>C	X	70443954	70443954	T	C	GJB1	c.397T>C	NM_000166.6	NP_000157.1:p.(Trp133Arg)	NC_000023.10:g.70443954T>C	(Likely) pathogenic	1 lab	855b564dcd
16:8995050 USP7 G>A	16	8995050	8995050	G	A	USP7	c.2089C>T	NM_003470.3	NP_003461.2:p.(Arg697Trp)	NC_000016.9:g.8995050G>A	VUS	1 lab	855da7fb27
5:126171974 LMNB1 C>T	5	126171974	126171974	C	T	LMNB1	c.*18C>T	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126171974C>T	(Likely) benign	1 lab	8560da6b14
10:73501504 CDH23 C>T	10	73501504	73501504	C	T	CDH23	c.4671C>T	NM_022124.6	NP_071407.4:p.(Ile1557=)	NC_000010.10:g.73501504C>T	(Likely) benign	1 lab	8561944e7c
12:2791217 CACNA1C C>G	12	2791217	2791217	C	G	CACNA1C	c.5690C>G	NM_199460.4	NP_955630.3:p.(Ser1897Cys)	NC_000012.11:g.2791217C>G	(Likely) benign	1 lab	856a58da75
7:94050390 COL1A2 G>C	7	94050390	94050390	G	C	COL1A2	c.2349+16G>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94050390G>C	(Likely) benign	1 lab	857396bddc
1:215914859 USH2A T>C	1	215914859	215914859	T	C	USH2A	c.11569A>G	NM_206933.4	NP_996816.3:p.(Arg3857Gly)	NC_000001.10:g.215914859T>C	(Likely) benign	1 lab	85743e1f1c
7:94049910 COL1A2 G>C	7	94049910	94049910	G	C	COL1A2	c.2245G>C	NM_000089.4	NP_000080.2:p.(Glu749Gln)	NC_000007.13:g.94049910G>C	VUS	1 lab	85762cc0b1
5:178634497 ADAMTS2 T>C	5	178634497	178634497	T	C	ADAMTS2	c.891+17A>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634497T>C	(Likely) benign	1 lab	858850193b
3:139144926 MISSING T>Alt too long to show for this DUP	3	139144926	139366364	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.139144928_139366364dup	VUS	1 lab	858919b6e7
8:1806113 ARHGEF10 TTTTTC>T	8	1806113	1806122	TTTTTC	T	ARHGEF10	c.110-8_110-4del	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1806118_1806122del	(Likely) benign	1 lab	85917a7579
2:21227212 APOB C>T	2	21227212	21227212	C	T	APOB	c.12016G>A	NM_000384.3	NP_000375.3:p.(Val4006Ile)	NC_000002.11:g.21227212C>T	(Likely) benign	1 lab	85940c3508
7:154378881 DPP6 G>T	7	154378881	154378881	G	T	DPP6	c.447G>T	NM_001364502.2	NP_001351431.1:p.(Gln149His)	NC_000007.13:g.154378881G>T	(Likely) benign	1 lab	8597ac71dc
9:107571796 ABCA1 T>C	9	107571796	107571796	T	C	ABCA1	c.4225A>G	NM_005502.4	NP_005493.2:p.(Thr1409Ala)	NC_000009.11:g.107571796T>C	VUS	1 lab	85a15c204a
22:38536120 PLA2G6 G>C	22	38536120	38536120	G	C	PLA2G6	c.666C>G	NM_003560.4	NP_003551.2:p.(Thr222=)	NC_000022.10:g.38536120G>C	(Likely) benign	1 lab	85a914ef5a
2:212248478 ERBB4 G>C	2	212248478	212248478	G	C	ERBB4	c.3789C>G	NM_005235.3	NP_005226.1:p.(Ser1263Arg)	NC_000002.11:g.212248478G>C	(Likely) benign	1 lab	85b0a4985c
2:179416714 TTN A>G	2	179416714	179416714	A	G	TTN	c.90913T>C	NM_001267550.2	NP_001254479.2:p.(Tyr30305His)	NC_000002.11:g.179416714A>G	VUS	1 lab	85b17dddda
5:121406135 LOX G>A	5	121406135	121406135	G	A	LOX	c.1131+54C>T	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121406135G>A	(Likely) benign	1 lab	85b1f7bbfe
5:127614689 FBN2 T>C	5	127614689	127614689	T	C	FBN2	c.7139-156A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127614689T>C	(Likely) benign	1 lab	85bb246d88
16:57012142 CETP A>G	16	57012142	57012142	A	G	CETP	c.1121A>G	NM_000078.3	NP_000069.2:p.(His374Arg)	NC_000016.9:g.57012142A>G	VUS	1 lab	85c08ebf6c
15:28200287 OCA2 G>A	15	28200287	28200287	G	A	OCA2	c.1842+17C>T	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28200287G>A	(Likely) benign	1 lab	85c1191ffc
6:112437176 LAMA4 A>C	6	112437176	112437176	A	C	LAMA4	c.5002T>G	NM_001105206.3	NP_001098676.2:p.(Leu1668Val)	NC_000006.11:g.112437176A>C	VUS	1 lab	85c8f6b62b
3:53699766 CACNA1D C>T	3	53699766	53699766	C	T	CACNA1D	c.846C>T	NM_000720.4	NP_000711.1:p.(Ile282=)	NC_000003.11:g.53699766C>T	(Likely) benign	1 lab	85d4719c4b
20:57466847 GNAS C>G	20	57466847	57466847	C	G	GNAS	c.66C>G	NM_001077488.5	NP_001070956.1:p.(Ala22=)	NC_000020.10:g.57466847C>G	(Likely) benign	1 lab	85d545ba07
9:103027226 INVS C>CT	9	103027226	103027242	C	CT	INVS	c.1571+32dup	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103027242dup	(Likely) benign	1 lab	85d58b2ed1
10:46321555 AGAP4 G>A	10	46321555	46321555	G	A	AGAP4	c.1869C>T	NM_001276343.2	NP_001263272.2:p.(Asp623=)	NC_000010.10:g.46321555G>A	(Likely) benign	1 lab	85db2a471c
10:74806823 P4HA1 G>A	10	74806823	74806823	G	A	P4HA1	c.937C>T	NM_000917.4	NP_000908.2:p.(His313Tyr)	NC_000010.10:g.74806823G>A	(Likely) benign	1 lab	85df76b1e4
1:55504650 PCSK9 G>A	1	55504650	55504650	G	A	PCSK9				NC_000001.10:g.55504650G>A	(Likely) benign	1 lab	85e01cd87a
9:139092412 LHX3 AG>A	9	139092412	139092414	AG	A	LHX3	c.218+15del	NM_001363746.1	NP_001350675.1:p.?	NC_000009.11:g.139092414del	(Likely) benign	1 lab	85e154d906
6:45315289 RUNX2 Ref too long to show for this DEL>C	6	45315289	45325796	Ref too long to show for this DEL	C	RUNX2	c.58+18774_58+29275del	NM_001024630.4	NP_001019801.3:p.?	NC_000006.11:g.45315295_45325796del	VUS	1 lab	85e66e829b
16:50788310 CYLD A>G	16	50788310	50788310	A	G	CYLD	c.888A>G	NM_015247.3	NP_056062.1:p.(Leu296=)	NC_000016.9:g.50788310A>G	(Likely) benign	1 lab	85e6ac984b
18:77475488 CTDP1 C>T	18	77475488	77475488	C	T	CTDP1	c.2028C>T	NM_048368.4	NP_430255.2:p.(Asp676=)	NC_000018.9:g.77475488C>T	(Likely) benign	1 lab	85ef1b719a
9:107573149 ABCA1 T>C	9	107573149	107573149	T	C	ABCA1	c.4107A>G	NM_005502.4	NP_005493.2:p.(Pro1369=)	NC_000009.11:g.107573149T>C	(Likely) benign	1 lab	85f89b4f16
5:140062784 HARS1 G>A	5	140062784	140062784	G	A	HARS1	c.201C>T	NM_001258041.3	NP_001244970.1:p.(Pro67=)	NC_000005.9:g.140062784G>A	(Likely) benign	1 lab	85fd549f24
10:112769023 SHOC2 C>T	10	112769023	112769023	C	T	SHOC2	c.1302C>T	NM_001324337.2	NP_001311266.1:p.(Asn434=)	NC_000010.10:g.112769023C>T	(Likely) benign	1 lab	86057eb475
2:165381565 GRB14 T>C	2	165381565	165381565	T	C	GRB14	c.627A>G	NM_004490.3	NP_004481.2:p.(Val209=)	NC_000002.11:g.165381565T>C	(Likely) benign	1 lab	86070a15fa
6:32052255 TNXB T>C	6	32052255	32052255	T	C	TNXB	c.3380A>G	NM_019105.8	NP_061978.6:p.(Lys1127Arg)	NC_000006.11:g.32052255T>C	(Likely) benign	1 lab	860be8dfcb
2:58431201 FANCL CA>C	2	58431201	58431202	CA	C	FANCL	c.471+63del	NM_018062.4	NP_060532.2:p.?	NC_000002.11:g.58431202del	(Likely) benign	1 lab	860ee46cef
7:80262395 MISSING T>Alt too long to show for this DUP	7	80262395	80477399	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.80262396_80477399dup	VUS	1 lab	8611ca43d9
6:16144063 MYLIP C>T	6	16144063	16144063	C	T	MYLIP	c.796C>T	NM_013262.4	NP_037394.2:p.(Arg266Ter)	NC_000006.11:g.16144063C>T	(Likely) pathogenic	1 lab	8615d18421
10:61840385 ANK3 G>GA	10	61840385	61840396	G	GA	ANK3	c.4351-10dup	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61840396dup	(Likely) benign	1 lab	86195b167a
12:117923392 KSR2 G>A	12	117923392	117923392	G	A	KSR2	c.2316+8C>T	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.117923392G>A	(Likely) benign	1 lab	861b0e7387
13:48954178 RB1 A>G	13	48954178	48954178	A	G	RB1	c.1390-11A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.48954178A>G	(Likely) benign	1 lab	861d3549e2
2:179417787 TTN C>T	2	179417787	179417787	C	T	TTN	c.89840G>A	NM_001267550.2	NP_001254479.2:p.(Arg29947Gln)	NC_000002.11:g.179417787C>T	VUS	1 lab	861f06ea2e
2:179638722 TTN G>A	2	179638722	179638722	G	A	TTN	c.7173C>T	NM_001267550.2	NP_001254479.2:p.(Asp2391=)	NC_000002.11:g.179638722G>A	(Likely) benign	1 lab	862203d89a
19:11210903 LDLR C>T	19	11210903	11210903	C	T	LDLR	c.72C>T	NM_000527.5	NP_000518.1:p.(Gly24=)	NC_000019.9:g.11210903C>T	(Likely) benign	1 lab	862777b564
8:145619314 CPSF1 G>A	8	145619314	145619314	G	A	CPSF1	c.3859+14C>T	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145619314G>A	(Likely) benign	1 lab	862dd9bc6b
6:35208941 SCUBE3 C>CG	6	35208941	35208945	C	CG	SCUBE3	c.1094dup	NM_001303136.2	NP_001290065.1:p.(Gly366ArgfsTer74)	NC_000006.11:g.35208945dup	(Likely) pathogenic	1 lab	8630fa68e7
1:12058925 MFN2 T>C	1	12058925	12058925	T	C	MFN2	c.698T>C	NM_014874.4	NP_055689.1:p.(Leu233Pro)	NC_000001.10:g.12058925T>C	VUS	1 lab	863b1766a9
11:74000180 P4HA3 T>TAA	11	74000180	74000194	T	TAA	P4HA3	c.718-7_718-6dup	NM_182904.5	NP_878907.1:p.?	NC_000011.9:g.74000193_74000194dup	(Likely) benign	1 lab	864216a98e
4:119736950 SEC24D A>T	4	119736950	119736950	A	T	SEC24D	c.398-69T>A	NM_001318066.2	NP_001304995.1:p.?	NC_000004.11:g.119736950A>T	(Likely) benign	1 lab	864442fdb8
16:28883251 SH2B1 T>C	16	28883251	28883251	T	C	SH2B1	c.1460T>C	NM_015503.3	NP_056318.2:p.(Val487Ala)	NC_000016.9:g.28883251T>C	VUS	1 lab	864603a284
2:179599144 TTN G>A	2	179599144	179599144	G	A	TTN	c.15407C>T	NM_001267550.2	NP_001254479.2:p.(Ser5136Leu)	NC_000002.11:g.179599144G>A	VUS	1 lab	86532df555
2:21245708 APOB A>G	2	21245708	21245708	A	G	APOB	c.2811T>C	NM_000384.3	NP_000375.3:p.(Ser937=)	NC_000002.11:g.21245708A>G	(Likely) benign	1 lab	865352fd6c
12:119632347 HSPB8 G>A	12	119632347	119632347	G	A	HSPB8	c.*684G>A	NM_014365.3	NP_055180.1:p.?	NC_000012.11:g.119632347G>A	(Likely) benign	1 lab	86565c40c0
9:139392025 NOTCH1 C>T	9	139392025	139392025	C	T	NOTCH1	c.6181-15G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139392025C>T	(Likely) benign	1 lab	865dbfa743
3:58109344 FLNB C>T	3	58109344	58109344	C	T	FLNB	c.3651C>T	NM_001164317.2	NP_001157789.1:p.(Pro1217=)	NC_000003.11:g.58109344C>T	(Likely) benign	1 lab	865e2c12d2
X:38145732 RPGR C>A	X	38145732	38145732	C	A	RPGR	c.2520G>T	NM_001034853.2	NP_001030025.1:p.(Gly840=)	NC_000023.10:g.38145732C>A	(Likely) benign	1 lab	865f8f667a
17:79203052 TEPSIN T>G	17	79203052	79203052	T	G	TEPSIN	c.1254A>C	NM_144679.3	NP_653280.1:p.(Pro418=)	NC_000017.10:g.79203052T>G	(Likely) benign	1 lab	86603c0bc8
17:10544635 MYH3 G>A	17	10544635	10544635	G	A	MYH3	c.2014C>T	NM_002470.4	NP_002461.2:p.(Arg672Cys)	NC_000017.10:g.10544635G>A	(Likely) pathogenic	1 lab	8663a45546
22:24108438 CHCHD10 G>T	22	24108438	24108438	G	T	CHCHD10	c.307C>A	NM_001301339.2	NP_001288268.1:p.(Pro103Thr)	NC_000022.10:g.24108438G>T	(Likely) benign	1 lab	86685c3750
13:32907143 BRCA2 G>T	13	32907143	32907143	G	T	BRCA2	c.1528G>T	NM_000059.4	NP_000050.3:p.(Glu510Ter)	NC_000013.10:g.32907143G>T	(Likely) pathogenic	1 lab	866baa0da6
11:47357105 MYBPC3 C>T	11	47357105	47357105	C	T	MYBPC3	c.2737+323G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357105C>T	VUS	1 lab	866d2f317e
6:7572208 DSP A>G	6	7572208	7572208	A	G	DSP	c.2037A>G	NM_004415.4	NP_004406.2:p.(Ile679Met)	NC_000006.11:g.7572208A>G	VUS	1 lab	866dd4ea73
6:7571649 DSP A>G	6	7571649	7571649	A	G	DSP	c.1735A>G	NM_004415.4	NP_004406.2:p.(Thr579Ala)	NC_000006.11:g.7571649A>G	VUS	1 lab	86700ee415
1:55518422 PCSK9 C>T	1	55518422	55518422	C	T	PCSK9	c.757C>T	NM_174936.4	NP_777596.2:p.(Leu253Phe)	NC_000001.10:g.55518422C>T	VUS	1 lab	86778f6673
15:52632602 MYO5A G>C	15	52632602	52632602	G	C	MYO5A	c.4041-11C>G	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52632602G>C	(Likely) benign	1 lab	867c5bde22
7:151329236 PRKAG2 G>T	7	151329236	151329236	G	T	PRKAG2	c.685-12C>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151329236G>T	(Likely) benign	1 lab	867f33c03e
2:21256386 APOB A>G	2	21256386	21256386	A	G	APOB	c.909T>C	NM_000384.3	NP_000375.3:p.(Thr303=)	NC_000002.11:g.21256386A>G	(Likely) benign	1 lab	867f89672a
2:179580433 TTN C>T	2	179580433	179580433	C	T	TTN	c.25708G>A	NM_001267550.2	NP_001254479.2:p.(Glu8570Lys)	NC_000002.11:g.179580433C>T	VUS	1 lab	8685bdf5d5
11:76916493 MYO7A G>A	11	76916493	76916493	G	A	MYO7A	c.5481-14G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76916493G>A	(Likely) benign	1 lab	86863f07a4
16:57005224 CETP C>T	16	57005224	57005224	C	T	CETP	c.598-9C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005224C>T	(Likely) benign	1 lab	868661c2ee
5:14374389 TRIO A>G	5	14374389	14374389	A	G	TRIO	c.3268A>G	NM_007118.4	NP_009049.2:p.(Arg1090Gly)	NC_000005.9:g.14374389A>G	VUS	1 lab	868855a296
16:920014 LMF1 C>T	16	920014	920014	C	T	LMF1	c.886G>A	NM_001352018.2	NP_001338947.1:p.(Ala296Thr)	NC_000016.9:g.920014C>T	VUS	1 lab	868b41224f
2:24891696 NCOA1 Ref too long to show for this DEL>T	2	24891696	24904945	Ref too long to show for this DEL	T	NCOA1	c.256+2915_355-875del	NM_003743.5	NP_003734.3:p.?	NC_000002.11:g.24891699_24904945del	VUS	1 lab	868efcce47
14:81574816 TSHR G>C	14	81574816	81574816	G	C	TSHR	c.692+20G>C	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81574816G>C	(Likely) benign	1 lab	86902dfc56
19:7528777 ARHGEF18 C>T	19	7528777	7528777	C	T	ARHGEF18	c.1983C>T	NM_001130955.2	NP_001124427.2:p.(Ser661=)	NC_000019.9:g.7528777C>T	(Likely) benign	1 lab	8693bbe4ee
12:124412928 DNAH10 G>A	12	124412928	124412928	G	A	DNAH10	c.11752-6G>A	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124412928G>A	(Likely) benign	1 lab	8694a766b0
2:21264937 APOB T>C	2	21264937	21264937	T	C	APOB	c.237+296A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21264937T>C	VUS	1 lab	869709e446
16:1004971 LMF1 T>C	16	1004971	1004971	T	C	LMF1	c.-361-305A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004971T>C	(Likely) benign	1 lab	86a30062c1
1:3328714 PRDM16 C>T	1	3328714	3328714	C	T	PRDM16	c.1953C>T	NM_022114.4	NP_071397.3:p.(Gly651=)	NC_000001.10:g.3328714C>T	(Likely) benign	1 lab	86ac84eb18
2:21225713 APOB A>G	2	21225713	21225713	A	G	APOB	c.12581T>C	NM_000384.3	NP_000375.3:p.(Ile4194Thr)	NC_000002.11:g.21225713A>G	(Likely) benign	1 lab	86b063d1a5
9:94843263 SPTLC1 T>C	9	94843263	94843263	T	C	SPTLC1	c.261-18A>G	NM_001281303.2	NP_001268232.1:p.?	NC_000009.11:g.94843263T>C	(Likely) benign	1 lab	86b436e004
10:69902781 MYPN G>A	10	69902781	69902781	G	A	MYPN	c.987G>A	NM_032578.4	NP_115967.2:p.(Ala329=)	NC_000010.10:g.69902781G>A	(Likely) benign	1 lab	86b4b25d22
2:215674195 BARD1 G>A	2	215674195	215674195	G	A	BARD1	c.99C>T	NM_000465.4	NP_000456.2:p.(Ala33=)	NC_000002.11:g.215674195G>A	(Likely) benign	1 lab	86b95d43a4
22:38370150 SOX10 C>T	22	38370150	38370150	C	T	SOX10	c.753G>A	NM_006941.4	NP_008872.1:p.(Ser251=)	NC_000022.10:g.38370150C>T	(Likely) benign	1 lab	86bb999e2a
17:1584250 PRPF8 T>C	17	1584250	1584250	T	C	PRPF8	c.965A>G	NM_006445.4	NP_006436.3:p.(Asn322Ser)	NC_000017.10:g.1584250T>C	VUS	1 lab	86c2f6bed5
5:112174414 APC A>G	5	112174414	112174414	A	G	APC	c.3123A>G	NM_000038.6	NP_000029.2:p.(Gln1041=)	NC_000005.9:g.112174414A>G	(Likely) benign	1 lab	86c4322158
14:102516202 DYNC1H1 G>A	14	102516202	102516202	G	A	DYNC1H1	c.13667G>A	NM_001376.5	NP_001367.2:p.(Cys4556Tyr)	NC_000014.8:g.102516202G>A	VUS	1 lab	86c6ad763e
X:130411866 IGSF1 A>G	X	130411866	130411866	A	G	IGSF1	c.2299T>C	NM_001170961.2	NP_001164432.1:p.(Ser767Pro)	NC_000023.10:g.130411866A>G	VUS	1 lab	86c91a9689
16:81388067 GAN C>G	16	81388067	81388067	C	G	GAN	c.340C>G	NM_022041.4	NP_071324.1:p.(Leu114Val)	NC_000016.9:g.81388067C>G	VUS	1 lab	86ca3df94f
5:127653901 FBN2 G>A	5	127653901	127653901	G	A	FBN2	c.4657C>T	NM_001999.4	NP_001990.2:p.(Arg1553Cys)	NC_000005.9:g.127653901G>A	VUS	1 lab	86cab38145
15:58839298 LIPC C>T	15	58839298	58839298	C	T	LIPC	c.808+1124C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58839298C>T	(Likely) benign	1 lab	86cc8316b7
19:50338999 MED25 C>T	19	50338999	50338999	C	T	MED25	c.1762C>T	NM_030973.4	NP_112235.2:p.(Pro588Ser)	NC_000019.9:g.50338999C>T	VUS	1 lab	86d1f535d6
1:12052698 MFN2 A>T	1	12052698	12052698	A	T	MFN2	c.262A>T	NM_014874.4	NP_055689.1:p.(Ile88Phe)	NC_000001.10:g.12052698A>T	VUS	1 lab	86da9b5d73
14:100808859 WARS1 G>A	14	100808859	100808859	G	A	WARS1	c.989C>T	NM_173701.2	NP_776049.1:p.(Pro330Leu)	NC_000014.8:g.100808859G>A	(Likely) benign	1 lab	86dfba98d7
8:10469346 RP1L1 C>T	8	10469346	10469346	C	T	RP1L1	c.2262G>A	NM_178857.6	NP_849188.4:p.(Pro754=)	NC_000008.10:g.10469346C>T	(Likely) benign	1 lab	86e79a622a
4:70488611 MISSING A>Alt too long to show for this DUP	4	70488611	71412584	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.70488612_71412584dup	VUS	1 lab	86ec99ef10
15:48808735 FBN1 C>T	15	48808735	48808735	C	T	FBN1	c.1148-176G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48808735C>T	(Likely) benign	1 lab	86eda8119c
2:215617304 BARD1 TTAAG>T	2	215617304	215617313	TTAAG	T	BARD1	c.1569-29_1569-26del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215617310_215617313del	(Likely) benign	1 lab	86ede1129f
18:19429163 MIB1 A>G	18	19429163	19429163	A	G	MIB1	c.2400A>G	NM_020774.4	NP_065825.1:p.(Gln800=)	NC_000018.9:g.19429163A>G	(Likely) benign	1 lab	86f003bbc5
7:128482432 FLNC C>A	7	128482432	128482432	C	A	FLNC	c.2265+4C>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482432C>A	(Likely) benign	1 lab	86f24b3dba
1:152188847 HRNR A>G	1	152188847	152188847	A	G	HRNR	c.5258T>C	NM_001009931.3	NP_001009931.1:p.(Val1753Ala)	NC_000001.10:g.152188847A>G	(Likely) benign	1 lab	86f3a42f3a
3:18943580 MISSING T>Alt too long to show for this DUP	3	18943580	19190226	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.18943583_19190226dup	VUS	1 lab	86f5914228
2:9633088 MISSING C>Alt too long to show for this DUP	2	9633088	9744984	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.9633089_9744984dup	VUS	1 lab	86f9161b67
12:65141478 GNS A>G	12	65141478	65141478	A	G	GNS	c.459+14T>C	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65141478A>G	(Likely) benign	1 lab	86f918fb55
5:127673374 FBN2 C>T	5	127673374	127673374	C	T	FBN2	c.3598+315G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127673374C>T	(Likely) benign	1 lab	86fbd5a395
19:15276895 NOTCH3 G>A	19	15276895	15276895	G	A	NOTCH3	c.5370C>T	NM_000435.3	NP_000426.2:p.(Phe1790=)	NC_000019.9:g.15276895G>A	(Likely) benign	1 lab	87031a2f0c
3:38912926 SCN11A C>T	3	38912926	38912926	C	T	SCN11A	c.3759+10G>A	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38912926C>T	(Likely) benign	1 lab	8709402343
16:15398849 MISSING Ref too long to show for this DEL>C	16	15398849	16458408	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.15398850_16458408del	(Likely) pathogenic	1 lab	871205fe77
19:11238760 LDLR C>T	19	11238760	11238760	C	T	LDLR	c.2388C>T	NM_000527.5	NP_000518.1:p.(Ile796=)	NC_000019.9:g.11238760C>T	(Likely) benign	1 lab	87145c83c7
2:202501551 TMEM237 T>C	2	202501551	202501551	T	C	TMEM237	c.170A>G	NM_152388.4	NP_689601.2:p.(Asn57Ser)	NC_000002.11:g.202501551T>C	(Likely) benign	1 lab	87182ae765
1:179883206 TOR1AIP1 A>G	1	179883206	179883206	A	G	TOR1AIP1	c.967+17A>G	NM_001267578.2	NP_001254507.1:p.?	NC_000001.10:g.179883206A>G	(Likely) benign	1 lab	871a2712fd
1:236917179 ACTN2 G>A	1	236917179	236917179	G	A	ACTN2	c.1840-68G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236917179G>A	(Likely) benign	1 lab	871a7f210b
5:34120778 MISSING Ref too long to show for this DEL>A	5	34120778	34264897	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.34120779_34264897del	(Likely) benign	1 lab	871e04c3f0
16:1004449 LMF1 C>T	16	1004449	1004449	C	T	LMF1	c.84G>A	NM_001352019.2	NP_001338948.1:p.(Ser28=)	NC_000016.9:g.1004449C>T	(Likely) benign	1 lab	872b926cb7
11:68704316 IGHMBP2 C>T	11	68704316	68704316	C	T	IGHMBP2	c.2368C>T	NM_002180.3	NP_002171.2:p.(Arg790Ter)	NC_000011.9:g.68704316C>T	(Likely) pathogenic	1 lab	87339d02e8
22:29885296 NEFH A>C	22	29885296	29885296	A	C	NEFH	c.1667A>C	NM_021076.4	NP_066554.2:p.(Glu556Ala)	NC_000022.10:g.29885296A>C	VUS	1 lab	87341350d5
17:16745625 MISSING Ref too long to show for this DEL>T	17	16745625	20335876	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.16745628_20335876del	(Likely) pathogenic	1 lab	873a3d2f70
5:7897061 MTRR T>C	5	7897061	7897061	T	C	MTRR	c.1761T>C	NM_002454.3	NP_002445.2:p.(Tyr587=)	NC_000005.9:g.7897061T>C	(Likely) benign	1 lab	873c839a46
16:77331268 ADAMTS18 Ref too long to show for this DEL>G	16	77331268	77430421	Ref too long to show for this DEL	G	ADAMTS18	c.496-28800_2718del	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77331270_77430421del	VUS	1 lab	874067cca9
9:5516779 PDCD1LG2 Ref too long to show for this DEL>C	9	5516779	5538251	Ref too long to show for this DEL	C	PDCD1LG2	c.-14-5753_361+3201del	NM_025239.4	NP_079515.2:p.?	NC_000009.11:g.5516780_5538251del	VUS	1 lab	874bbc6a83
16:70302201 AARS1 C>G	16	70302201	70302201	C	G	AARS1	c.1044G>C	NM_001605.3	NP_001596.2:p.(Thr348=)	NC_000016.9:g.70302201C>G	(Likely) benign	1 lab	874d07c222
6:142523315 MISSING Ref too long to show for this DEL>G	6	142523315	142573402	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.142523317_142573402del	VUS	1 lab	874fcd614e
16:49569759 ZNF423 A>Alt too long to show for this DUP	16	49569759	49883920	A	Alt too long to show for this DUP	ZNF423	c.40+5726_3602-10355dup	NM_001379286.1	NP_001366215.1:p.?	NC_000016.9:g.49569760_49883920dup	VUS	1 lab	87500475e9
17:45234673 CDC27 T>C	17	45234673	45234673	T	C	CDC27	c.553A>G	NM_001114091.4	NP_001107563.1:p.(Thr185Ala)	NC_000017.10:g.45234673T>C	(Likely) benign	1 lab	87518a1ac9
2:21233670 APOB T>C	2	21233670	21233670	T	C	APOB	c.6070A>G	NM_000384.3	NP_000375.3:p.(Ile2024Val)	NC_000002.11:g.21233670T>C	VUS	1 lab	8755c0d35a
X:55172659 VCF2 A>G	X	55172659	55172659	A	G	VCF2	c.203T>C	NM_001166703.2	NP_001160175.1:p.(Ile68Thr)	NC_000023.10:g.55172659A>G	(Likely) benign	1 lab	875827b39a
15:58830608 LIPC T>G	15	58830608	58830608	T	G	LIPC	c.165T>G	NM_000236.3	NP_000227.2:p.(Phe55Leu)	NC_000015.9:g.58830608T>G	VUS	1 lab	875b49906c
18:67691984 RTTN C>A	18	67691984	67691984	C	A	RTTN	c.5924G>T	NM_173630.4	NP_775901.3:p.(Cys1975Phe)	NC_000018.9:g.67691984C>A	VUS	1 lab	8762de2dbb
2:50918447 NRXN1 Ref too long to show for this DEL>A	2	50918447	51221480	Ref too long to show for this DEL	A	NRXN1	c.772+33160_833-67695del	NM_001330078.2	NP_001317007.1:p.?	NC_000002.11:g.50918448_51221480del	VUS	1 lab	8763c13a65
1:161277079 MPZ T>C	1	161277079	161277079	T	C	MPZ	c.203A>G	NM_000530.8	NP_000521.2:p.(Tyr68Cys)	NC_000001.10:g.161277079T>C	(Likely) pathogenic	1 lab	8770398a0d
17:29356944 MISSING A>Alt too long to show for this DUP	17	29356944	29428204	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.29356946_29428204dup	VUS	1 lab	87719b7882
7:107596065 LAMB1 C>A	7	107596065	107596065	C	A	LAMB1	c.2701G>T	NM_002291.3	NP_002282.2:p.(Gly901Cys)	NC_000007.13:g.107596065C>A	VUS	1 lab	8773ba3d14
2:25523071 DNMT3A G>A	2	25523071	25523071	G	A	DNMT3A	c.114C>T	NM_175629.2	NP_783328.1:p.(Arg38=)	NC_000002.11:g.25523071G>A	(Likely) benign	1 lab	87775ca975
7:154519606 DPP6 T>C	7	154519606	154519606	T	C	DPP6	c.883+9T>C	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154519606T>C	(Likely) benign	1 lab	877870ecfe
5:86659294 CCNH A>G	5	86659294	86659294	A	G	CCNH	c.933+31567T>C	NM_001364075.2	NP_001351004.1:p.?	NC_000005.9:g.86659294A>G	(Likely) benign	1 lab	877c94dceb
4:1206732 CTBP1 C>T	4	1206732	1206732	C	T	CTBP1	c.1108G>A	NM_001328.3	NP_001319.1:p.(Val370Met)	NC_000004.11:g.1206732C>T	VUS	1 lab	877f343fb3
2:73800565 ALMS1 GATTCC>G	2	73800565	73800572	GATTCC	G	ALMS1	c.11550+17_11550+21del	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73800568_73800572del	(Likely) benign	1 lab	8781ce9a77
11:1016977 MUC6 G>A	11	1016977	1016977	G	A	MUC6	c.5824C>T	NM_005961.3	NP_005952.2:p.(His1942Tyr)	NC_000011.9:g.1016977G>A	(Likely) benign	1 lab	878e1872f4
1:161277181 MPZ G>A	1	161277181	161277181	G	A	MPZ	c.101C>T	NM_000530.8	NP_000521.2:p.(Thr34Ile)	NC_000001.10:g.161277181G>A	(Likely) pathogenic	1 lab	87913fcd34
2:21231035 APOB C>A	2	21231035	21231035	C	A	APOB	c.8705G>T	NM_000384.3	NP_000375.3:p.(Ser2902Ile)	NC_000002.11:g.21231035C>A	VUS	1 lab	8795b1ffe3
3:38620952 SCN5A G>A	3	38620952	38620952	G	A	SCN5A	c.3263C>T	NM_198056.3	NP_932173.1:p.(Ala1088Val)	NC_000003.11:g.38620952G>A	VUS	1 lab	8796ebec3a
18:9257070 ANKRD12 T>C	18	9257070	9257070	T	C	ANKRD12	c.3736T>C	NM_001204056.1	NP_001190985.1:p.(Leu1246=)	NC_000018.9:g.9257070T>C	(Likely) benign	1 lab	879a698542
3:53844325 CACNA1D A>G	3	53844325	53844325	A	G	CACNA1D	c.6252A>G	NM_000720.4	NP_000711.1:p.(Ala2084=)	NC_000003.11:g.53844325A>G	(Likely) benign	1 lab	879bc237f6
12:623612 MISSING Ref too long to show for this DEL>C	12	623612	739629	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.623615_739629del	VUS	1 lab	879df51229
18:34298339 FHOD3 A>C	18	34298339	34298339	A	C	FHOD3	c.3078A>C	NM_001281740.3	NP_001268669.1:p.(Pro1026=)	NC_000018.9:g.34298339A>C	(Likely) benign	1 lab	87a19e59c4
X:56590670 UBQLN2 A>G	X	56590670	56590670	A	G	UBQLN2	c.364A>G	NM_013444.4	NP_038472.2:p.(Asn122Asp)	NC_000023.10:g.56590670A>G	(Likely) benign	1 lab	87a1edda10
8:114031060 CSMD3 C>Alt too long to show for this DUP	8	114031060	114291017	C	Alt too long to show for this DUP	CSMD3	c.402-84_1030+235dup	NM_198123.2	NP_937756.1:p.?	NC_000008.10:g.114031061_114291017dup	VUS	1 lab	87a363a679
X:153325005 MISSING Ref too long to show for this DEL>C	X	153325005	153505593	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.153325006_153505593del	(Likely) pathogenic	1 lab	87a4d72795
12:125270966 SCARB1 G>A	12	125270966	125270966	G	A	SCARB1	c.1338C>T	NM_005505.5	NP_005496.4:p.(Tyr446=)	NC_000012.11:g.125270966G>A	(Likely) benign	1 lab	87a730e649
9:107576512 ABCA1 T>C	9	107576512	107576512	T	C	ABCA1	c.3788A>G	NM_005502.4	NP_005493.2:p.(Asp1263Gly)	NC_000009.11:g.107576512T>C	VUS	1 lab	87b0add508
18:10794830 PIEZO2 A>G	18	10794830	10794830	A	G	PIEZO2	c.1698T>C	NM_022068.4	NP_071351.2:p.(Pro566=)	NC_000018.9:g.10794830A>G	(Likely) benign	1 lab	87b568739a
X:137990088 MISSING T>Alt too long to show for this DUP	X	137990088	138594632	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.137990091_138594632dup	VUS	1 lab	87b599a1d2
9:107574979 ABCA1 C>T	9	107574979	107574979	C	T	ABCA1	c.3926G>A	NM_005502.4	NP_005493.2:p.(Ser1309Asn)	NC_000009.11:g.107574979C>T	VUS	1 lab	87b6cef4f1
19:1741820 MISSING Ref too long to show for this DEL>G	19	1741820	2909093	Ref too long to show for this DEL	G	MISSING				NC_000019.9:g.1741822_2909093del	VUS	1 lab	87b9e807cc
2:179610900 TTN G>A	2	179610900	179610900	G	A	TTN	c.16227C>T	NM_133379.5	NP_596870.2:p.(Pro5409=)	NC_000002.11:g.179610900G>A	(Likely) benign	1 lab	87bb9332f6
3:14177391 TMEM43 G>A	3	14177391	14177391	G	A	TMEM43	c.865G>A	NM_024334.3	NP_077310.1:p.(Gly289Arg)	NC_000003.11:g.14177391G>A	VUS	1 lab	87be337e2f
6:137143910 PEX7 C>T	6	137143910	137143910	C	T	PEX7	c.107C>T	NM_000288.4	NP_000279.1:p.(Thr36Ile)	NC_000006.11:g.137143910C>T	VUS	1 lab	87c669c456
10:76784808 KAT6B A>G	10	76784808	76784808	A	G	KAT6B	c.3465A>G	NM_012330.4	NP_036462.2:p.(Val1155=)	NC_000010.10:g.76784808A>G	(Likely) benign	1 lab	87c7f1edb0
11:47362587 MYBPC3 C>A	11	47362587	47362587	C	A	MYBPC3	c.1898-4G>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362587C>A	VUS	1 lab	87c91cd0ee
1:75009593 TNNI3K A>G	1	75009593	75009593	A	G	TNNI3K	c.2435A>G	NM_015978.3	NP_057062.1:p.(Tyr812Cys)	NC_000001.10:g.75009593A>G	VUS	1 lab	87ce1f29e3
2:179516201 TTN G>T	2	179516201	179516201	G	T	TTN	c.39526C>A	NM_001267550.2	NP_001254479.2:p.(Pro13176Thr)	NC_000002.11:g.179516201G>T	VUS	1 lab	87d38608db
7:42005366 GLI3 G>T	7	42005366	42005366	G	T	GLI3	c.3305C>A	NM_000168.6	NP_000159.3:p.(Ser1102Tyr)	NC_000007.13:g.42005366G>T	VUS	1 lab	87d6fb8859
3:53779776 CACNA1D A>G	3	53779776	53779776	A	G	CACNA1D	c.3174+18A>G	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53779776A>G	(Likely) benign	1 lab	87d73fecfe
17:63530068 AXIN2 G>GC	17	63530068	63530071	G	GC	AXIN2	c.2366dup	NM_004655.4	NP_004646.3:p.(His790ProfsTer3)	NC_000017.10:g.63530071dup	VUS	1 lab	87d7838918
4:108935600 HADH T>G	4	108935600	108935600	T	G	HADH	c.275T>G	NM_001184705.4	NP_001171634.3:p.(Phe92Cys)	NC_000004.11:g.108935600T>G	(Likely) benign	1 lab	87d9556962
16:1004425 LMF1 G>A	16	1004425	1004425	G	A	LMF1	c.108C>T	NM_001352019.2	NP_001338948.1:p.(Cys36=)	NC_000016.9:g.1004425G>A	(Likely) benign	1 lab	87e7805b23
10:104161671 NFKB2 C>T	10	104161671	104161671	C	T	NFKB2	c.2463C>T	NM_001288724.1	NP_001275653.1:p.(Tyr821=)	NC_000010.10:g.104161671C>T	(Likely) benign	1 lab	87f28f20a3
16:15852142 MYH11 G>A	16	15852142	15852142	G	A	MYH11	c.1402-285C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15852142G>A	(Likely) benign	1 lab	87f576efeb
17:56435080 RNF43 G>C	17	56435080	56435080	G	C	RNF43	c.2057C>G	NM_017763.6	NP_060233.3:p.(Pro686Arg)	NC_000017.10:g.56435080G>C	(Likely) benign	1 lab	87f5c281e1
10:89720633 PTEN CTTT>C	10	89720633	89720648	CTTT	C	PTEN	c.802-5_802-3del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720646_89720648del	(Likely) benign	1 lab	87f8f2d76a
18:47107935 LIPG G>A	18	47107935	47107935	G	A	LIPG	c.944G>A	NM_006033.4	NP_006024.1:p.(Arg315His)	NC_000018.9:g.47107935G>A	(Likely) pathogenic	1 lab	87f906ff93
8:1833831 ARHGEF10 A>G	8	1833831	1833831	A	G	ARHGEF10	c.1215A>G	NM_001308153.2	NP_001295082.1:p.(Glu405=)	NC_000008.10:g.1833831A>G	(Likely) benign	1 lab	87f96e3b86
19:1221979 STK11 C>A	19	1221979	1221979	C	A	STK11	c.894C>A	NM_000455.5	NP_000446.1:p.(Phe298Leu)	NC_000019.9:g.1221979C>A	(Likely) benign	1 lab	87faa372ec
17:62020251 SCN4A C>T	17	62020251	62020251	C	T	SCN4A	c.4223G>A	NM_000334.4	NP_000325.4:p.(Arg1408His)	NC_000017.10:g.62020251C>T	VUS	1 lab	87fc9b5d88
3:38646384 SCN5A C>A	3	38646384	38646384	C	A	SCN5A	c.1354G>T	NM_198056.3	NP_932173.1:p.(Gly452Cys)	NC_000003.11:g.38646384C>A	VUS	1 lab	880033d915
8:19811838 LPL G>A	8	19811838	19811838	G	A	LPL	c.749G>A	NM_000237.3	NP_000228.1:p.(Arg250His)	NC_000008.10:g.19811838G>A	VUS	1 lab	88046de60f
11:68115929 LRP5 G>A	11	68115929	68115929	G	A	LRP5	c.488+218G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68115929G>A	(Likely) benign	1 lab	880f4aec05
19:17716896 UNC13A G>T	19	17716896	17716896	G	T	UNC13A	c.5079C>A	NM_001080421.3	NP_001073890.2:p.(Ser1693=)	NC_000019.9:g.17716896G>T	(Likely) benign	1 lab	881515a800
2:179641986 TTN C>T	2	179641986	179641986	C	T	TTN	c.4704G>A	NM_001267550.2	NP_001254479.2:p.(Lys1568=)	NC_000002.11:g.179641986C>T	(Likely) benign	1 lab	8819e4e3a9
2:1652069 PXDN C>A	2	1652069	1652069	C	A	PXDN	c.3483G>T	NM_012293.3	NP_036425.1:p.(Arg1161=)	NC_000002.11:g.1652069C>A	(Likely) benign	1 lab	881fa52809
3:38593288 SCN5A GC>G	3	38593288	38593293	GC	G	SCN5A	c.4814-240del	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593293del	(Likely) benign	1 lab	8822d7c1dd
2:21226070 APOB G>C	2	21226070	21226070	G	C	APOB	c.12224C>G	NM_000384.3	NP_000375.3:p.(Pro4075Arg)	NC_000002.11:g.21226070G>C	VUS	1 lab	88289266f3
9:137681211 COL5A1 C>T	9	137681211	137681211	C	T	COL5A1	c.2700+157C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137681211C>T	(Likely) benign	1 lab	882da4b474
17:8077494 TMEM107 G>Alt too long to show for this DUP	17	8077494	8079672	G	Alt too long to show for this DUP	TMEM107	c.-65_*26dup	NM_183065.4	NP_898888.1:p.?	NC_000017.10:g.8077498_8079672dup	VUS	1 lab	882fc8d567
X:135290069 FHL1 C>T	X	135290069	135290069	C	T	FHL1	c.450C>T	NM_001159704.1	NP_001153176.1:p.(Cys150=)	NC_000023.10:g.135290069C>T	(Likely) benign	1 lab	883893c21c
8:144296501 GPIHBP1 T>C	8	144296501	144296501	T	C	GPIHBP1	c.182-387T>C	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296501T>C	(Likely) benign	1 lab	883ce81320
17:15142914 PMP22 C>A	17	15142914	15142914	C	A	PMP22	c.193G>T	NM_000304.4	NP_000295.1:p.(Val65Phe)	NC_000017.10:g.15142914C>A	(Likely) pathogenic	1 lab	883de6a0cd
4:1955176 NSD2 C>T	4	1955176	1955176	C	T	NSD2	c.2263C>T	NM_133330.3	NP_579877.1:p.(Arg755Ter)	NC_000004.11:g.1955176C>T	(Likely) pathogenic	1 lab	883f210f65
3:57846577 SLMAP C>A	3	57846577	57846577	C	A	SLMAP	c.828+11C>A	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57846577C>A	(Likely) benign	1 lab	884278d872
X:48895942 TFE3 G>C	X	48895942	48895942	G	C	TFE3	c.560C>G	NM_006521.6	NP_006512.2:p.(Thr187Arg)	NC_000023.10:g.48895942G>C	(Likely) pathogenic	1 lab	88428e8fe0
11:128786284 KCNJ5 T>C	11	128786284	128786284	T	C	KCNJ5	c.938-20T>C	NM_000890.5	NP_000881.3:p.?	NC_000011.9:g.128786284T>C	(Likely) benign	1 lab	8847c0b40f
6:123869615 TRDN G>A	6	123869615	123869615	G	A	TRDN	c.375C>T	NM_006073.4	NP_006064.2:p.(Asp125=)	NC_000006.11:g.123869615G>A	(Likely) benign	1 lab	884b45ade4
16:46771892 MYLK3 T>A	16	46771892	46771892	T	A	MYLK3	c.732A>T	NM_182493.3	NP_872299.2:p.(Thr244=)	NC_000016.9:g.46771892T>A	(Likely) benign	1 lab	884b63f19a
11:18320428 HPS5 G>A	11	18320428	18320428	G	A	HPS5	c.1075C>T	NM_181507.2	NP_852608.1:p.(Arg359Cys)	NC_000011.9:g.18320428G>A	VUS	1 lab	884edcb780
10:67748436 CTNNA3 TGTAA>T	10	67748436	67748444	TGTAA	T	CTNNA3	c.2265+10_2265+13del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67748441_67748444del	(Likely) benign	1 lab	88514068d7
3:49690328 BSN C>T	3	49690328	49690328	C	T	BSN	c.3339C>T	NM_003458.4	NP_003449.2:p.(Ala1113=)	NC_000003.11:g.49690328C>T	(Likely) benign	1 lab	8858a31606
17:41244202 BRCA1 C>G	17	41244202	41244202	C	G	BRCA1	c.3346G>C	NM_007294.4	NP_009225.1:p.(Val1116Leu)	NC_000017.10:g.41244202C>G	(Likely) benign	1 lab	885a785d8f
1:25883750 LDLRAP1 C>G	1	25883750	25883750	C	G	LDLRAP1	c.451C>G	NM_015627.3	NP_056442.2:p.(Arg151Gly)	NC_000001.10:g.25883750C>G	VUS	1 lab	885c3be9e1
12:110238487 TRPV4 A>T	12	110238487	110238487	A	T	TRPV4	c.789T>A	NM_021625.5	NP_067638.3:p.(Asp263Glu)	NC_000012.11:g.110238487A>T	(Likely) pathogenic	1 lab	8861edd3ac
19:11240032 LDLR G>A	19	11240032	11240032	G	A	LDLR	c.2390-157G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240032G>A	(Likely) benign	1 lab	88682fc4a5
12:33031424 PKP2 G>C	12	33031424	33031424	G	C	PKP2	c.390C>G	NM_004572.4	NP_004563.2:p.(Tyr130Ter)	NC_000012.11:g.33031424G>C	(Likely) pathogenic	1 lab	8869512d93
4:84029055 MISSING Ref too long to show for this DEL>A	4	84029055	84060177	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.84029057_84060177del	VUS	1 lab	8869d8c405
3:129155659 MBD4 T>G	3	129155659	129155659	T	G	MBD4	c.828A>C	NM_003925.3	NP_003916.1:p.(Glu276Asp)	NC_000003.11:g.129155659T>G	VUS	1 lab	886ba07e11
7:117180210 CFTR CCTT>C	7	117180210	117180221	CCTT	C	CFTR	c.935_937del	NM_000492.4	NP_000483.3:p.(Phe312del)	NC_000007.13:g.117180219_117180221del	(Likely) pathogenic	1 lab	886e45ee92
9:119460222 ASTN2 T>C	9	119460222	119460222	T	C	ASTN2	c.2653+27828A>G	NM_014010.5	NP_054729.3:p.?	NC_000009.11:g.119460222T>C	(Likely) benign	1 lab	88700810e0
16:88792097 PIEZO1 A>G	16	88792097	88792097	A	G	PIEZO1	c.3969-5T>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88792097A>G	(Likely) benign	1 lab	88747a313e
3:52676065 PBRM1 C>CA	3	52676065	52676078	C	CA	PBRM1	c.996-5dup	NM_018313.5	NP_060783.3:p.?	NC_000003.11:g.52676078dup	(Likely) benign	1 lab	8877e2ae9e
5:16565892 RETREG1 C>T	5	16565892	16565892	C	T	RETREG1	c.438G>A	NM_001034850.3	NP_001030022.1:p.(Leu146=)	NC_000005.9:g.16565892C>T	(Likely) benign	1 lab	887c0566fb
3:38617103 SCN5A C>T	3	38617103	38617103	C	T	SCN5A	c.3509-161G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38617103C>T	(Likely) benign	1 lab	887e74ba84
4:48803747 MISSING A>Alt too long to show for this DUP	4	48803747	48970137	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.48803748_48970137dup	VUS	1 lab	88808f45f3
2:170112660 LRP2 T>C	2	170112660	170112660	T	C	LRP2	c.2726A>G	NM_004525.3	NP_004516.2:p.(His909Arg)	NC_000002.11:g.170112660T>C	(Likely) benign	1 lab	8880b1b162
21:33982250 CFAP298 G>C	21	33982250	33982250	G	C	CFAP298	c.205C>G	NM_021254.4	NP_067077.1:p.(Gln69Glu)	NC_000021.8:g.33982250G>C	VUS	1 lab	888281abca
7:81593508 CACNA2D1 G>A	7	81593508	81593508	G	A	CACNA2D1	c.2763+15C>T	NM_001366867.1	NP_001353796.1:p.?	NC_000007.13:g.81593508G>A	(Likely) benign	1 lab	8885a63a83
11:68125241 LRP5 G>A	11	68125241	68125241	G	A	LRP5	c.612G>A	NM_002335.4	NP_002326.2:p.(Leu204=)	NC_000011.9:g.68125241G>A	(Likely) benign	1 lab	888c9d667d
2:44051501 ABCG5 T>C	2	44051501	44051501	T	C	ABCG5	c.975A>G	NM_022436.3	NP_071881.1:p.(Ile325Met)	NC_000002.11:g.44051501T>C	VUS	1 lab	888e072bc1
8:89168056 MISSING Ref too long to show for this DEL>A	8	89168056	89695063	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.89168057_89695063del	VUS	1 lab	88920c949c
1:226053825 MISSING T>Alt too long to show for this DUP	1	226053825	226084637	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.226053826_226084637dup	VUS	1 lab	889a2574be
19:11200253 LDLR G>A	19	11200253	11200253	G	A	LDLR	c.29G>A	NM_000527.5	NP_000518.1:p.(Trp10Ter)	NC_000019.9:g.11200253G>A	(Likely) pathogenic	1 lab	889ad0b3cd
2:56145203 EFEMP1 A>C	2	56145203	56145203	A	C	EFEMP1	c.131-17T>G	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56145203A>C	(Likely) benign	1 lab	889c5b4f37
12:110655968 IFT81 A>G	12	110655968	110655968	A	G	IFT81	c.1968A>G	NM_014055.4	NP_054774.2:p.(Gln656=)	NC_000012.11:g.110655968A>G	(Likely) benign	1 lab	88a0050f91
11:62388118 B3GAT3 G>A	11	62388118	62388118	G	A	B3GAT3	c.108C>T	NM_012200.4	NP_036332.2:p.(Pro36=)	NC_000011.9:g.62388118G>A	(Likely) benign	1 lab	88a3b573ff
18:19383906 MIB1 T>C	18	19383906	19383906	T	C	MIB1	c.1410T>C	NM_020774.4	NP_065825.1:p.(Ala470=)	NC_000018.9:g.19383906T>C	(Likely) benign	1 lab	88aa35b1bb
X:25031253 ARX C>T	X	25031253	25031253	C	T	ARX	c.859G>A	NM_139058.3	NP_620689.1:p.(Gly287Arg)	NC_000023.10:g.25031253C>T	VUS	1 lab	88b017f6da
3:14183303 TMEM43 C>T	3	14183303	14183303	C	T	TMEM43	c.*8C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14183303C>T	(Likely) benign	1 lab	88b0c1a9e0
7:141794579 MGAM T>C	7	141794579	141794579	T	C	MGAM	c.7374T>C	NM_001365693.1	NP_001352622.1:p.(Asp2458=)	NC_000007.13:g.141794579T>C	(Likely) benign	1 lab	88b24095d4
11:62458289 BSCL2 C>A	11	62458289	62458289	C	A	BSCL2	c.1123G>T	NM_001122955.4	NP_001116427.1:p.(Gly375Cys)	NC_000011.9:g.62458289C>A	VUS	1 lab	88bb670c4c
2:15433027 NBAS C>T	2	15433027	15433027	C	T	NBAS	c.4798-137G>A	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15433027C>T	(Likely) benign	1 lab	88bc947305
1:246365604 MISSING A>Alt too long to show for this DUP	1	246365604	246818532	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.246365605_246818532dup	VUS	1 lab	88c269fb5f
12:21325250 SLCO1B1 TAAAG>T	12	21325250	21325256	TAAAG	T	SLCO1B1	c.85-331_85-328del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325253_21325256del	(Likely) benign	1 lab	88c494d18b
12:21353621 SLCO1B1 T>C	12	21353621	21353621	T	C	SLCO1B1	c.1135+15T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353621T>C	(Likely) benign	1 lab	88cf70d62a
19:45412477 APOE C>T	19	45412477	45412477	C	T	APOE	c.1002C>T	NM_001302688.2	NP_001289617.1:p.(Ser334=)	NC_000019.9:g.45412477C>T	(Likely) benign	1 lab	88d161938c
22:41923337 ACO2 G>A	22	41923337	41923337	G	A	ACO2	c.1999G>A	NM_001098.3	NP_001089.1:p.(Glu667Lys)	NC_000022.10:g.41923337G>A	VUS	1 lab	88d5b17d53
15:20549789 MISSING G>Alt too long to show for this DUP	15	20549789	20624622	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.20549790_20624622dup	VUS	1 lab	88da73f54b
11:62462082 BSCL2 G>A	11	62462082	62462082	G	A	BSCL2	c.588C>T	NM_001122955.4	NP_001116427.1:p.(Cys196=)	NC_000011.9:g.62462082G>A	(Likely) benign	1 lab	88dc1cbb9a
16:49669842 ZNF423 C>T	16	49669842	49669842	C	T	ZNF423	c.3041G>A	NM_001271620.2	NP_001258549.1:p.(Arg1014His)	NC_000016.9:g.49669842C>T	VUS	1 lab	88dff6dca5
2:44055446 ABCG5 G>A	2	44055446	44055446	G	A	ABCG5	c.502-192C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055446G>A	(Likely) benign	1 lab	88e2348fa2
16:919003 LMF1 G>A	16	919003	919003	G	A	LMF1	c.1390C>T	NM_001352020.1	NP_001338949.1:p.(Arg464Ter)	NC_000016.9:g.919003G>A	VUS	1 lab	88e298325a
7:128489288 FLNC G>A	7	128489288	128489288	G	A	FLNC	c.4951+30G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489288G>A	VUS	1 lab	88e3470506
3:184033345 EIF4G1 G>A	3	184033345	184033345	G	A	EIF4G1	c.-35+12G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184033345G>A	(Likely) benign	1 lab	88e394dc25
10:134537682 MISSING A>Alt too long to show for this DUP	10	134537682	134984055	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.134537683_134984055dup	VUS	1 lab	88e58aec34
10:64573334 EGR2 T>A	10	64573334	64573334	T	A	EGR2	c.1064A>T	NM_000399.5	NP_000390.2:p.(Asp355Val)	NC_000010.10:g.64573334T>A	(Likely) pathogenic	1 lab	88e66054d3
15:48718045 FBN1 C>T	15	48718045	48718045	C	T	FBN1	c.7221G>A	NM_000138.5	NP_000129.3:p.(Lys2407=)	NC_000015.9:g.48718045C>T	(Likely) benign	1 lab	88ea2244f0
15:58856346 LIPC G>A	15	58856346	58856346	G	A	LIPC	c.1388+424G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856346G>A	(Likely) benign	1 lab	88ee717766
4:159579625 MISSING G>Alt too long to show for this DUP	4	159579625	159625416	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.159579626_159625416dup	VUS	1 lab	88eed9d204
10:69933999 MYPN C>T	10	69933999	69933999	C	T	MYPN	c.2150C>T	NM_032578.4	NP_115967.2:p.(Thr717Met)	NC_000010.10:g.69933999C>T	VUS	1 lab	88f50bcc89
12:48376345 COL2A1 A>G	12	48376345	48376345	A	G	COL2A1	c.2241T>C	NM_001844.5	NP_001835.3:p.(Gly747=)	NC_000012.11:g.48376345A>G	(Likely) benign	1 lab	88f77c565e
17:1559675 PRPF8 G>A	17	1559675	1559675	G	A	PRPF8	c.5793+11C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1559675G>A	(Likely) benign	1 lab	88f78339d7
1:55509619 PCSK9 G>A	1	55509619	55509619	G	A	PCSK9	c.311G>A	NM_174936.4	NP_777596.2:p.(Arg104His)	NC_000001.10:g.55509619G>A	VUS	1 lab	8a3eb20acc
X:100652985 GLA C>G	X	100652985	100652985	C	G	GLA	c.1102G>C	NM_000169.3	NP_000160.1:p.(Ala368Pro)	NC_000023.10:g.100652985C>G	VUS	1 lab	89033bd394
11:10014085 SBF2 T>C	11	10014085	10014085	T	C	SBF2	c.1173A>G	NM_030962.4	NP_112224.1:p.(Ala391=)	NC_000011.9:g.10014085T>C	(Likely) benign	1 lab	89042fc1fa
9:107547872 ABCA1 C>A	9	107547872	107547872	C	A	ABCA1	c.6450G>T	NM_005502.4	NP_005493.2:p.(Pro2150=)	NC_000009.11:g.107547872C>A	(Likely) benign	1 lab	89045d6d8a
6:75893670 COL12A1 T>G	6	75893670	75893670	T	G	COL12A1	c.1188A>C	NM_004370.6	NP_004361.3:p.(Ala396=)	NC_000006.11:g.75893670T>G	(Likely) benign	1 lab	89095c771f
19:40900215 PRX C>G	19	40900215	40900215	C	G	PRX	c.4044G>C	NM_181882.3	NP_870998.2:p.(Gly1348=)	NC_000019.9:g.40900215C>G	(Likely) benign	1 lab	890ba27e1e
17:68171404 KCNJ2 C>T	17	68171404	68171404	C	T	KCNJ2	c.224C>T	NM_000891.3	NP_000882.1:p.(Thr75Met)	NC_000017.10:g.68171404C>T	(Likely) pathogenic	1 lab	890e1f4bf9
15:48756181 FBN1 TG>T	15	48756181	48756183	TG	T	FBN1	c.4979del	NM_000138.5	NP_000129.3:p.(Pro1660GlnfsTer22)	NC_000015.9:g.48756183del	(Likely) pathogenic	1 lab	8913b0c3d6
2:99013582 CNGA3 A>C	2	99013582	99013582	A	C	CNGA3	c.1949A>C	NM_001298.3	NP_001289.1:p.(Glu650Ala)	NC_000002.11:g.99013582A>C	VUS	1 lab	891c44c299
10:55839184 PCDH15 G>A	10	55839184	55839184	G	A	PCDH15	c.2013C>T	NM_001142771.2	NP_001136243.1:p.(Thr671=)	NC_000010.10:g.55839184G>A	(Likely) benign	1 lab	891c71b3f7
9:107604722 ABCA1 A>C	9	107604722	107604722	A	C	ABCA1	c.814-1922T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107604722A>C	(Likely) benign	1 lab	891d3dba44
2:179600318 TTN A>T	2	179600318	179600318	A	T	TTN	c.14855T>A	NM_001267550.2	NP_001254479.2:p.(Leu4952Gln)	NC_000002.11:g.179600318A>T	VUS	1 lab	89207d28f5
10:71136782 HK1 G>A	10	71136782	71136782	G	A	HK1	c.932G>A	NM_033500.2	NP_277035.2:p.(Arg311Gln)	NC_000010.10:g.71136782G>A	(Likely) benign	1 lab	8928655496
1:50887056 DMRTA2 C>T	1	50887056	50887056	C	T	DMRTA2	c.153G>A	NM_032110.3	NP_115486.1:p.(Leu51=)	NC_000001.10:g.50887056C>T	(Likely) benign	1 lab	8936a86af3
15:52656733 MYO5A C>A	15	52656733	52656733	C	A	MYO5A	c.3309+18G>T	NM_000259.3	NP_000250.3:p.?	NC_000015.9:g.52656733C>A	(Likely) benign	1 lab	893a9a5bf6
11:116706505 APOA1 G>C	11	116706505	116706505	G	C	APOA1	c.*19C>G	NM_001318021.1	NP_001304950.1:p.?	NC_000011.9:g.116706505G>C	(Likely) benign	1 lab	893e34ec8a
5:82837094 VCAN G>C	5	82837094	82837094	G	C	VCAN	c.8272G>C	NM_004385.5	NP_004376.2:p.(Gly2758Arg)	NC_000005.9:g.82837094G>C	VUS	1 lab	893f419e0d
12:102036319 MYBPC1 T>G	12	102036319	102036319	T	G	MYBPC1	c.788T>G	NM_002465.4	NP_002456.2:p.(Leu263Arg)	NC_000012.11:g.102036319T>G	(Likely) pathogenic	1 lab	8945e09cfc
9:135787012 TSC1 TAAAAAAA>T	9	135787012	135787043	TAAAAAAA	T	TSC1	c.914-64_914-58del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135787037_135787043del	(Likely) benign	1 lab	894ad4f579
1:161275461 MPZ G>C	1	161275461	161275461	G	C	MPZ	c.*205C>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275461G>C	(Likely) benign	1 lab	894d455230
5:148386523 SH3TC2 C>T	5	148386523	148386523	C	T	SH3TC2	c.3596G>A	NM_024577.4	NP_078853.2:p.(Trp1199Ter)	NC_000005.9:g.148386523C>T	(Likely) pathogenic	1 lab	8952409717
10:18828635 CACNB2 T>G	10	18828635	18828635	T	G	CACNB2	c.1800T>G	NM_000724.4	NP_000715.2:p.(Asp600Glu)	NC_000010.10:g.18828635T>G	(Likely) benign	1 lab	895453806f
9:95477764 BICD2 T>C	9	95477764	95477764	T	C	BICD2	c.2259-19A>G	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95477764T>C	(Likely) benign	1 lab	895b6218e1
4:100516006 MTTP A>G	4	100516006	100516006	A	G	MTTP	c.875A>G	NM_000253.4	NP_000244.2:p.(Gln292Arg)	NC_000004.11:g.100516006A>G	VUS	1 lab	89648198be
17:10535066 MYH3 G>A	17	10535066	10535066	G	A	MYH3	c.5161-13C>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10535066G>A	(Likely) benign	1 lab	8964d4c163
22:50657611 TUBGCP6 G>A	22	50657611	50657611	G	A	TUBGCP6	c.4512C>T	NM_020461.4	NP_065194.3:p.(Val1504=)	NC_000022.10:g.50657611G>A	(Likely) benign	1 lab	896f5a8bd1
14:51081107 ATL1 A>G	14	51081107	51081107	A	G	ATL1	c.740A>G	NM_015915.5	NP_056999.2:p.(His247Arg)	NC_000014.8:g.51081107A>G	(Likely) pathogenic	1 lab	8971bf4dda
17:15134277 PMP22 A>C	17	15134277	15134277	A	C	PMP22	c.440T>G	NM_000304.4	NP_000295.1:p.(Leu147Arg)	NC_000017.10:g.15134277A>C	(Likely) pathogenic	1 lab	89749e173e
6:70993430 COL9A1 G>A	6	70993430	70993430	G	A	COL9A1	c.780+10C>T	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70993430G>A	(Likely) benign	1 lab	897c671c49
19:10250706 DNMT1 G>A	19	10250706	10250706	G	A	DNMT1	c.3806+16C>T	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10250706G>A	(Likely) benign	1 lab	897c99ef36
2:44040425 ABCG5 T>C	2	44040425	44040425	T	C	ABCG5	c.1786A>G	NM_022436.3	NP_071881.1:p.(Thr596Ala)	NC_000002.11:g.44040425T>C	(Likely) benign	1 lab	89817e0d66
7:45111482 CCM2 A>T	7	45111482	45111482	A	T	CCM2	c.868+11A>T	NM_001363458.2	NP_001350387.1:p.?	NC_000007.13:g.45111482A>T	(Likely) benign	1 lab	89827eb415
9:2718854 KCNV2 TG>T	9	2718854	2718857	TG	T	KCNV2	c.1118del	NM_133497.4	NP_598004.1:p.(Gly373ValfsTer81)	NC_000009.11:g.2718857del	(Likely) pathogenic	1 lab	89832d1ffd
12:48381408 COL2A1 G>T	12	48381408	48381408	G	T	COL2A1	c.1207C>A	NM_001844.5	NP_001835.3:p.(Pro403Thr)	NC_000012.11:g.48381408G>T	(Likely) benign	1 lab	898511fc5a
2:179455176 TTN G>A	2	179455176	179455176	G	A	TTN	c.61276C>T	NM_001267550.2	NP_001254479.2:p.(Leu20426Phe)	NC_000002.11:g.179455176G>A	VUS	1 lab	8985a5d00f
7:151845833 KMT2C AT>A	7	151845833	151845834	AT	A	KMT2C	c.13178del	NM_170606.3	NP_733751.2:p.(Asp4393ValfsTer20)	NC_000007.13:g.151845834del	(Likely) pathogenic	1 lab	8987bc0527
1:94508373 ABCA4 C>T	1	94508373	94508373	C	T	ABCA4	c.3272G>A	NM_000350.3	NP_000341.2:p.(Gly1091Glu)	NC_000001.10:g.94508373C>T	(Likely) pathogenic	1 lab	898b73c2b0
17:75478481 SEPTIN9 C>T	17	75478481	75478481	C	T	SEPTIN9	c.859+64C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75478481C>T	(Likely) benign	1 lab	898db3c6b1
3:100964889 IMPG2 G>A	3	100964889	100964889	G	A	IMPG2	c.1300C>T	NM_016247.4	NP_057331.2:p.(Pro434Ser)	NC_000003.11:g.100964889G>A	VUS	1 lab	899dfac9ff
11:46334102 CREB3L1 G>A	11	46334102	46334102	G	A	CREB3L1	c.904-61G>A	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46334102G>A	(Likely) benign	1 lab	89a059b07a
18:28650767 DSC2 T>G	18	28650767	28650767	T	G	DSC2	c.2175A>C	NM_004949.5	NP_004940.1:p.(Pro725=)	NC_000018.9:g.28650767T>G	(Likely) benign	1 lab	89a0d8954e
5:94956496 GPR150 C>T	5	94956496	94956496	C	T	GPR150	c.517C>T	NM_199243.3	NP_954713.1:p.(Leu173=)	NC_000005.9:g.94956496C>T	(Likely) benign	1 lab	89a49d3948
9:107576407 ABCA1 A>G	9	107576407	107576407	A	G	ABCA1	c.3893T>C	NM_005502.4	NP_005493.2:p.(Ile1298Thr)	NC_000009.11:g.107576407A>G	(Likely) benign	1 lab	89abe67fe6
15:48722920 FBN1 C>T	15	48722920	48722920	C	T	FBN1	c.6819G>A	NM_000138.5	NP_000129.3:p.(Met2273Ile)	NC_000015.9:g.48722920C>T	VUS	1 lab	89ac35b897
4:100496261 MTTP CTT>C	4	100496261	100496264	CTT	C	MTTP	c.61+136_61+137del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100496263_100496264del	(Likely) benign	1 lab	89b3a3143d
8:19796793 LPL C>T	8	19796793	19796793	C	T	LPL	c.-159C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796793C>T	VUS	1 lab	89b62caa0c
9:107556765 ABCA1 C>T	9	107556765	107556765	C	T	ABCA1	c.5409G>A	NM_005502.4	NP_005493.2:p.(Leu1803=)	NC_000009.11:g.107556765C>T	(Likely) benign	1 lab	89ba442426
X:100653517 GLA T>C	X	100653517	100653517	T	C	GLA	c.840A>G	NM_000169.3	NP_000160.1:p.(Gln280=)	NC_000023.10:g.100653517T>C	(Likely) benign	1 lab	89bcb62b0f
19:45452515 APOC2 C>T	19	45452515	45452515	C	T	APOC2	c.*9C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452515C>T	VUS	1 lab	89bcdd16dd
15:31339446 TRPM1 A>G	15	31339446	31339446	A	G	TRPM1	c.1683T>C	NM_001252020.2	NP_001238949.1:p.(Leu561=)	NC_000015.9:g.31339446A>G	(Likely) benign	1 lab	89eb4a1aa2
10:92678744 ANKRD1 A>ATATATAT	10	92678744	92678745	A	ATATATAT	ANKRD1	c.346-16_346-15insATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATAT	(Likely) benign	1 lab	89bebf9708
15:48726812 FBN1 CG>C	15	48726812	48726815	CG	C	FBN1	c.6594del	NM_000138.5	NP_000129.3:p.(Gly2199ValfsTer3)	NC_000015.9:g.48726815del	(Likely) pathogenic	1 lab	89bf31ddd8
18:34156448 FHOD3 G>C	18	34156448	34156448	G	C	FHOD3	c.546G>C	NM_025135.5	NP_079411.2:p.(Met182Ile)	NC_000018.9:g.34156448G>C	VUS	1 lab	89c3e66fd8
15:58837732 LIPC GC>G	15	58837732	58837735	GC	G	LIPC	c.575-206del	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58837735del	(Likely) benign	1 lab	89c65a5e59
15:72955043 GOLGA6B C>T	15	72955043	72955043	C	T	GOLGA6B	c.1298C>T	NM_018652.4	NP_061122.4:p.(Ser433Phe)	NC_000015.9:g.72955043C>T	(Likely) benign	1 lab	89cb142b78
2:73678385 ALMS1 G>A	2	73678385	73678385	G	A	ALMS1	c.4734G>A	NM_015120.4	NP_055935.4:p.(Pro1578=)	NC_000002.11:g.73678385G>A	(Likely) benign	1 lab	89cbf0cf2b
5:484685 SLC9A3 G>GGA	5	484685	484689	G	GGA	SLC9A3	c.880_881dup	NM_004174.4	NP_004165.2:p.(Tyr295ProfsTer6)	NC_000005.9:g.484688_484689dup	(Likely) pathogenic	1 lab	89cff5a2e9
X:5811276 NLGN4X G>A	X	5811276	5811276	G	A	NLGN4X	c.2033C>T	NM_001282145.2	NP_001269074.1:p.(Thr678Ile)	NC_000023.10:g.5811276G>A	VUS	1 lab	89d5e2dd80
16:88786245 PIEZO1 C>T	16	88786245	88786245	C	T	PIEZO1	c.6288G>A	NM_001142864.4	NP_001136336.2:p.(Lys2096=)	NC_000016.9:g.88786245C>T	(Likely) benign	1 lab	89ddf4c8cf
X:24557261 PDK3 A>C	X	24557261	24557261	A	C	PDK3	c.1228A>C	NM_001142386.3	NP_001135858.1:p.(Lys410Gln)	NC_000023.10:g.24557261A>C	(Likely) benign	1 lab	89e236b60e
11:68153903 LRP5 G>A	11	68153903	68153903	G	A	LRP5	c.1135G>A	NM_002335.4	NP_002326.2:p.(Asp379Asn)	NC_000011.9:g.68153903G>A	(Likely) pathogenic	1 lab	89e343d4a4
5:149500903 PDGFRB G>A	5	149500903	149500903	G	A	PDGFRB	c.2345-18C>T	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149500903G>A	(Likely) benign	1 lab	89e4b868e8
12:1963174 CACNA2D4 G>A	12	1963174	1963174	G	A	CACNA2D4	c.2189C>T	NM_172364.5	NP_758952.4:p.(Ala730Val)	NC_000012.11:g.1963174G>A	(Likely) benign	1 lab	89e503ee44
13:32954019 BRCA2 C>T	13	32954019	32954019	C	T	BRCA2	c.9086C>T	NM_000059.4	NP_000050.3:p.(Ala3029Val)	NC_000013.10:g.32954019C>T	(Likely) benign	1 lab	89e7be6ab3
2:166930107 SCN1A G>A	2	166930107	166930107	G	A	SCN1A	c.25C>T	NM_001165963.4	NP_001159435.1:p.(Pro9Ser)	NC_000002.11:g.166930107G>A	VUS	1 lab	89ebf21a6c
11:19209717 CSRP3 C>G	11	19209717	19209717	C	G	CSRP3	c.247G>C	NM_003476.5	NP_003467.1:p.(Asp83His)	NC_000011.9:g.19209717C>G	VUS	1 lab	89f0a802cf
2:179655503 TTN CTAGTT>C	2	179655503	179655509	CTAGTT	C	TTN	c.1727_1731del	NM_001267550.2	NP_001254479.2:p.(Lys576ArgfsTer22)	NC_000002.11:g.179655505_179655509del	(Likely) benign	1 lab	89fa8b4b56
11:22646670 FANCF T>A	11	22646670	22646670	T	A	FANCF	c.687A>T	NM_022725.4	NP_073562.1:p.(Ser229=)	NC_000011.9:g.22646670T>A	(Likely) benign	1 lab	89fd3224b8
1:103348866 COL11A1 A>G	1	103348866	103348866	A	G	COL11A1	c.4896T>C	NM_080629.3	NP_542196.2:p.(Gly1632=)	NC_000001.10:g.103348866A>G	(Likely) benign	1 lab	89ff543e08
2:45150180 MISSING A>Alt too long to show for this DUP	2	45150180	45174864	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.45150181_45174864dup	VUS	1 lab	8a013ad441
4:47945287 CNGA1 G>A	4	47945287	47945287	G	A	CNGA1	c.348C>T	NM_001142564.2	NP_001136036.2:p.(Asn116=)	NC_000004.11:g.47945287G>A	(Likely) benign	1 lab	8a015c4562
17:42082476 NAGS G>A	17	42082476	42082476	G	A	NAGS	c.426+19G>A	NM_153006.3	NP_694551.1:p.?	NC_000017.10:g.42082476G>A	(Likely) benign	1 lab	8a04ce6028
3:128205809 GATA2 G>C	3	128205809	128205809	G	C	GATA2	c.66C>G	NM_032638.5	NP_116027.2:p.(Pro22=)	NC_000003.11:g.128205809G>C	(Likely) benign	1 lab	8a094a2854
1:16377477 CLCNKB G>T	1	16377477	16377477	G	T	CLCNKB	c.1161G>T	NM_000085.5	NP_000076.2:p.(Leu387=)	NC_000001.10:g.16377477G>T	(Likely) benign	1 lab	8a1184c744
9:107589236 ABCA1 A>T	9	107589236	107589236	A	T	ABCA1	c.2330T>A	NM_005502.4	NP_005493.2:p.(Ile777Asn)	NC_000009.11:g.107589236A>T	VUS	1 lab	8a125da74e
11:3845677 PGAP2 C>T	11	3845677	3845677	C	T	PGAP2	c.767C>T	NM_001256237.1	NP_001243166.1:p.(Ser256Leu)	NC_000011.9:g.3845677C>T	VUS	1 lab	8a135f3556
7:33312821 BBS9 T>G	7	33312821	33312821	T	G	BBS9	c.613+14T>G	NM_001348038.3	NP_001334967.1:p.?	NC_000007.13:g.33312821T>G	(Likely) benign	1 lab	8a180f6f79
X:105277684 SERPINA7 T>A	X	105277684	105277684	T	A	SERPINA7	c.1055A>T	NM_000354.6	NP_000345.2:p.(Lys352Met)	NC_000023.10:g.105277684T>A	(Likely) benign	1 lab	8a195c11af
19:47258842 FKRP CG>C	19	47258842	47258844	CG	C	FKRP	c.137del	NM_001039885.3	NP_001034974.1:p.(Gly46AlafsTer22)	NC_000019.9:g.47258844del	(Likely) pathogenic	1 lab	8a1abbbbeb
2:27276061 AGBL5 G>A	2	27276061	27276061	G	A	AGBL5	c.215+20G>A	NM_021831.6	NP_068603.4:p.?	NC_000002.11:g.27276061G>A	(Likely) benign	1 lab	8a1e24deae
X:70444101 GJB1 T>A	X	70444101	70444101	T	A	GJB1	c.544T>A	NM_000166.6	NP_000157.1:p.(Ser182Thr)	NC_000023.10:g.70444101T>A	(Likely) pathogenic	1 lab	8a26535f44
2:179639039 TTN G>A	2	179639039	179639039	G	A	TTN	c.6952C>T	NM_001267550.2	NP_001254479.2:p.(Arg2318Cys)	NC_000002.11:g.179639039G>A	VUS	1 lab	8a297382e5
12:32996204 PKP2 C>T	12	32996204	32996204	C	T	PKP2	c.1422G>A	NM_004572.4	NP_004563.2:p.(Ala474=)	NC_000012.11:g.32996204C>T	(Likely) benign	1 lab	8a3017436e
12:21370139 SLCO1B1 T>A	12	21370139	21370139	T	A	SLCO1B1	c.1584T>A	NM_006446.5	NP_006437.3:p.(Asp528Glu)	NC_000012.11:g.21370139T>A	(Likely) benign	1 lab	8a3020a376
8:145765624 MISSING A>Alt too long to show for this DUP	8	145765624	146044936	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145765625_146044936dup	VUS	1 lab	8a3177b3b8
19:54621934 PRPF31 G>C	19	54621934	54621934	G	C	PRPF31	c.178-19G>C	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54621934G>C	(Likely) benign	1 lab	8a329fc09e
3:41266622 CTNNB1 TTAAC>T	3	41266622	41266628	TTAAC	T	CTNNB1	c.422_425del	NM_001904.4	NP_001895.1:p.(Asn141IlefsTer15)	NC_000003.11:g.41266625_41266628del	(Likely) pathogenic	1 lab	8a395e44ca
10:93797 TUBB8 C>T	10	93797	93797	C	T	TUBB8	c.535G>A	NM_177987.3	NP_817124.1:p.(Val179Met)	NC_000010.10:g.93797C>T	(Likely) pathogenic	1 lab	8a3a792ee5
9:97912338 FANCC G>A	9	97912338	97912338	G	A	FANCC	c.553C>T	NM_000136.3	NP_000127.2:p.(Arg185Ter)	NC_000009.11:g.97912338G>A	(Likely) pathogenic	1 lab	8a3c933596
15:73615247 HCN4 G>T	15	73615247	73615247	G	T	HCN4	c.3187C>A	NM_005477.3	NP_005468.1:p.(Pro1063Thr)	NC_000015.9:g.73615247G>T	(Likely) benign	1 lab	8a3da46d2a
19:11231151 LDLR G>A	19	11231151	11231151	G	A	LDLR	c.2093G>A	NM_000527.5	NP_000518.1:p.(Cys698Tyr)	NC_000019.9:g.11231151G>A	(Likely) pathogenic	1 lab	8a4092e04b
11:118347604 KMT2A C>T	11	118347604	118347604	C	T	KMT2A	c.3241C>T	NM_001197104.2	NP_001184033.1:p.(Arg1081Ter)	NC_000011.9:g.118347604C>T	(Likely) pathogenic	1 lab	8a41a89603
5:127610313 FBN2 C>T	5	127610313	127610313	C	T	FBN2	c.7657G>A	NM_001999.4	NP_001990.2:p.(Gly2553Arg)	NC_000005.9:g.127610313C>T	VUS	1 lab	8a41cafd18
3:38598217 SCN5A G>T	3	38598217	38598217	G	T	SCN5A	c.4300-148C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38598217G>T	(Likely) benign	1 lab	8a45ab57c2
9:12698465 TYRP1 GC>G	9	12698465	12698467	GC	G	TYRP1	c.725del	NM_000550.3	NP_000541.1:p.(Pro242LeufsTer24)	NC_000009.11:g.12698467del	(Likely) pathogenic	1 lab	8a4d385f69
X:32841520 DMD G>C	X	32841520	32841520	G	C	DMD	c.-105-16C>G	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32841520G>C	(Likely) benign	1 lab	8a4e2f9af1
2:47389428 CALM2 A>G	2	47389428	47389428	A	G	CALM2	c.174T>C	NM_001305626.1	NP_001292555.1:p.(Asp58=)	NC_000002.11:g.47389428A>G	(Likely) benign	1 lab	8a4fd75cf0
19:41114269 LTBP4 T>A	19	41114269	41114269	T	A	LTBP4	c.1501T>A	NM_001042544.1	NP_001036009.1:p.(Ser501Thr)	NC_000019.9:g.41114269T>A	(Likely) benign	1 lab	8a52d446c6
2:182542795 NEUROD1 T>G	2	182542795	182542795	T	G	NEUROD1	c.793A>C	NM_002500.5	NP_002491.3:p.(Thr265Pro)	NC_000002.11:g.182542795T>G	(Likely) benign	1 lab	8a53caa7c2
1:94474368 ABCA4 C>A	1	94474368	94474368	C	A	ABCA4	c.5774G>T	NM_000350.3	NP_000341.2:p.(Arg1925Ile)	NC_000001.10:g.94474368C>A	VUS	1 lab	8a5408140e
17:7802739 CHD3 G>T	17	7802739	7802739	G	T	CHD3	c.2599G>T	NM_001005271.3	NP_001005271.2:p.(Ala867Ser)	NC_000017.10:g.7802739G>T	VUS	1 lab	8a5927ec33
2:179638983 TTN G>A	2	179638983	179638983	G	A	TTN	c.7008C>T	NM_133378.4	NP_596869.4:p.(Tyr2336=)	NC_000002.11:g.179638983G>A	(Likely) benign	1 lab	8a5a2d2766
11:117261760 CEP164 G>A	11	117261760	117261760	G	A	CEP164	c.2112G>A	NM_014956.5	NP_055771.4:p.(Glu704=)	NC_000011.9:g.117261760G>A	(Likely) benign	1 lab	8a5cda2972
10:91007394 LIPA C>A	10	91007394	91007394	C	A	LIPA	c.12G>T	NM_000235.4	NP_000226.2:p.(Arg4=)	NC_000010.10:g.91007394C>A	(Likely) benign	1 lab	8a60202467
8:145011204 PLEC A>G	8	145011204	145011204	A	G	PLEC	c.789T>C	NM_201380.4	NP_958782.1:p.(Ala263=)	NC_000008.10:g.145011204A>G	(Likely) benign	1 lab	8a613d15bc
15:58855922 LIPC G>C	15	58855922	58855922	G	C	LIPC	c.1388G>C	NM_000236.3	NP_000227.2:p.(Arg463Thr)	NC_000015.9:g.58855922G>C	VUS	1 lab	8a64b1a88b
2:21227168 APOB A>G	2	21227168	21227168	A	G	APOB	c.12060T>C	NM_000384.3	NP_000375.3:p.(Ser4020=)	NC_000002.11:g.21227168A>G	(Likely) benign	1 lab	8a68673d0b
1:40544236 PPT1 G>A	1	40544236	40544236	G	A	PPT1	c.722C>T	NM_001363695.2	NP_001350624.1:p.(Ser241Leu)	NC_000001.10:g.40544236G>A	VUS	1 lab	8a69c4a72d
5:122713219 CEP120 T>TC	5	122713219	122713220	T	TC	CEP120	c.2206dup	NM_153223.4	NP_694955.2:p.(Glu736GlyfsTer22)	NC_000005.9:g.122713220dup	(Likely) pathogenic	1 lab	8a6cd6abf3
15:91557186 VPS33B C>T	15	91557186	91557186	C	T	VPS33B	c.290-85G>A	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91557186C>T	(Likely) benign	1 lab	8a6ddf2c16
3:10018739 EMC3 T>TA	3	10018739	10018753	T	TA	EMC3	c.214-6dup	NM_018447.4	NP_060917.1:p.?	NC_000003.11:g.10018753dup	(Likely) benign	1 lab	8a6e80f6fd
11:116706997 APOA1 T>C	11	116706997	116706997	T	C	APOA1	c.4A>G	NM_001318021.1	NP_001304950.1:p.(Ser2Gly)	NC_000011.9:g.116706997T>C	VUS	1 lab	8aa05a0f84
15:55724715 DNAAF4 T>G	15	55724715	55724715	T	G	DNAAF4	c.1133A>C	NM_130810.4	NP_570722.2:p.(Gln378Pro)	NC_000015.9:g.55724715T>G	VUS	1 lab	8a735fe7a5
20:62178359 MISSING G>Alt too long to show for this DUP	20	62178359	62193330	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.62178360_62193330dup	VUS	1 lab	8a743f059a
2:179443840 TTN C>G	2	179443840	179443840	C	G	TTN	c.67917G>C	NM_001267550.2	NP_001254479.2:p.(Lys22639Asn)	NC_000002.11:g.179443840C>G	VUS	1 lab	8a7aabede8
X:100653930 GLA T>C	X	100653930	100653930	T	C	GLA	c.644A>G	NM_000169.3	NP_000160.1:p.(Asn215Ser)	NC_000023.10:g.100653930T>C	(Likely) pathogenic	1 lab	8a7d2aca8f
1:94528192 ABCA4 C>T	1	94528192	94528192	C	T	ABCA4	c.1878G>A	NM_000350.3	NP_000341.2:p.(Ala626=)	NC_000001.10:g.94528192C>T	(Likely) benign	1 lab	8a8513102f
8:24811322 NEFL A>G	8	24811322	24811322	A	G	NEFL	c.1170-13T>C	NM_006158.5	NP_006149.2:p.?	NC_000008.10:g.24811322A>G	(Likely) benign	1 lab	8a87746520
17:41228579 BRCA1 T>A	17	41228579	41228579	T	A	BRCA1	c.4410A>T	NM_007294.4	NP_009225.1:p.(Glu1470Asp)	NC_000017.10:g.41228579T>A	(Likely) benign	1 lab	8a8d91ac10
1:156845927 NTRK1 C>T	1	156845927	156845927	C	T	NTRK1	c.1557C>T	NM_002529.4	NP_002520.2:p.(Gly519=)	NC_000001.10:g.156845927C>T	(Likely) benign	1 lab	8a8df92f94
2:238289977 COL6A3 A>G	2	238289977	238289977	A	G	COL6A3	c.1478T>C	NM_004369.4	NP_004360.2:p.(Val493Ala)	NC_000002.11:g.238289977A>G	(Likely) benign	1 lab	8a972f3b24
2:233258268 MISSING T>Alt too long to show for this DUP	2	233258268	233371937	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.233258271_233371937dup	VUS	1 lab	8a98c8e829
10:89622193 KLLN A>C	10	89622193	89622193	A	C	KLLN	c.52T>G	NM_001126049.2	NP_001119521.1:p.(Trp18Gly)	NC_000010.10:g.89622193A>C	(Likely) benign	1 lab	8a9f641ce2
X:100653725 GLA A>C	X	100653725	100653725	A	C	GLA	c.801+48T>G	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100653725A>C	(Likely) pathogenic	1 lab	8aa0d83d29
1:74954897 TNNI3K G>C	1	74954897	74954897	G	C	TNNI3K	c.2146G>C	NM_015978.3	NP_057062.1:p.(Val716Leu)	NC_000001.10:g.74954897G>C	VUS	1 lab	8aa1c7b2ab
10:48196323 MISSING C>Alt too long to show for this DUP	10	48196323	48761520	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.48196327_48761520dup	(Likely) pathogenic	1 lab	8aa6f81f13
2:179494240 TTN G>C	2	179494240	179494240	G	C	TTN	c.36578-70C>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179494240G>C	(Likely) benign	1 lab	8ab4724b69
12:125301899 SCARB1 TA>T	12	125301899	125301925	TA	T	SCARB1	c.284+196del	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125301925del	(Likely) benign	1 lab	8ab9270b9b
17:4535525 ALOX15 A>G	17	4535525	4535525	A	G	ALOX15	c.1592T>C	NM_001140.5	NP_001131.3:p.(Met531Thr)	NC_000017.10:g.4535525A>G	VUS	1 lab	8ac4c5863a
17:45232093 CDC27 T>C	17	45232093	45232093	T	C	CDC27	c.902A>G	NM_001114091.4	NP_001107563.1:p.(Tyr301Cys)	NC_000017.10:g.45232093T>C	(Likely) benign	1 lab	8ac510c9b6
4:100527828 MTTP C>T	4	100527828	100527828	C	T	MTTP	c.1345-77C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100527828C>T	(Likely) benign	1 lab	8ac78cbaf7
12:32976691 PKP2 C>T	12	32976691	32976691	C	T	PKP2	c.1806+288G>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32976691C>T	(Likely) benign	1 lab	8ac9ff5183
15:48764517 FBN1 C>T	15	48764517	48764517	C	T	FBN1	c.4336+231G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48764517C>T	(Likely) benign	1 lab	8ad12c2bc5
15:71507378 THSD4 C>T	15	71507378	71507378	C	T	THSD4	c.104C>T	NM_024817.2	NP_079093.2:p.(Pro35Leu)	NC_000015.9:g.71507378C>T	VUS	1 lab	8ad57277e1
9:101905257 TGFBR1 C>T	9	101905257	101905257	C	T	TGFBR1	c.973+272C>T	NM_004612.4	NP_004603.1:p.?	NC_000009.11:g.101905257C>T	(Likely) benign	1 lab	8ad649b0ab
10:53893922 PRKG1 A>C	10	53893922	53893922	A	C	PRKG1	c.1001+257A>C	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53893922A>C	(Likely) benign	1 lab	8ad69e459a
3:53844290 CACNA1D G>A	3	53844290	53844290	G	A	CACNA1D	c.6217G>A	NM_000720.4	NP_000711.1:p.(Asp2073Asn)	NC_000003.11:g.53844290G>A	(Likely) benign	1 lab	8adc427052
5:82817764 VCAN A>G	5	82817764	82817764	A	G	VCAN	c.3639A>G	NM_004385.5	NP_004376.2:p.(Ser1213=)	NC_000005.9:g.82817764A>G	(Likely) benign	1 lab	8adc48dbaa
11:108186550 ATM G>A	11	108186550	108186550	G	A	ATM	c.6007G>A	NM_000051.4	NP_000042.3:p.(Asp2003Asn)	NC_000011.9:g.108186550G>A	VUS	1 lab	8ae51bff33
1:237038008 MTR TA>T	1	237038008	237038022	TA	T	MTR	c.2474-4del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038022del	(Likely) benign	1 lab	8ae74218ac
11:17527440 USH1C T>C	11	17527440	17527440	T	C	USH1C	c.2070A>G	NM_153676.4	NP_710142.1:p.(Lys690=)	NC_000011.9:g.17527440T>C	(Likely) benign	1 lab	8aeecb3c7b
19:11202139 LDLR C>T	19	11202139	11202139	C	T	LDLR	c.67+1848C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202139C>T	(Likely) benign	1 lab	8af76379b9
19:16596072 CALR3 C>T	19	16596072	16596072	C	T	CALR3	c.398-4G>A	NM_145046.5	NP_659483.2:p.?	NC_000019.9:g.16596072C>T	(Likely) benign	1 lab	8af7fab10e
11:119213286 C1QTNF5 C>T	11	119213286	119213286	C	T	C1QTNF5	c.-1250+20G>A	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119213286C>T	(Likely) benign	1 lab	8af8a29b8b
12:56101259 ITGA7 A>T	12	56101259	56101259	A	T	ITGA7	c.206+2T>A	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56101259A>T	VUS	1 lab	8af9352cdc
2:176983923 HOXD10 G>C	2	176983923	176983923	G	C	HOXD10	c.987G>C	NM_002148.4	NP_002139.2:p.(Arg329=)	NC_000002.11:g.176983923G>C	(Likely) benign	1 lab	8afd6470d4
2:21235426 APOB A>C	2	21235426	21235426	A	C	APOB	c.4314T>G	NM_000384.3	NP_000375.3:p.(Ser1438Arg)	NC_000002.11:g.21235426A>C	VUS	1 lab	8afd6cc982
2:179424272 TTN C>A	2	179424272	179424272	C	A	TTN	c.86587G>T	NM_001267550.2	NP_001254479.2:p.(Val28863Leu)	NC_000002.11:g.179424272C>A	VUS	1 lab	8b0434acdd
13:98691499 MISSING A>Alt too long to show for this DUP	13	98691499	98918980	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.98691501_98918980dup	VUS	1 lab	8b0735ac18
X:70439000 GJB1 C>CTTA	X	70439000	70439038	C	CTTA	GJB1	c.-17+3896_-17+3898dup	NM_001097642.3	NP_001091111.1:p.?	NC_000023.10:g.70439036_70439038dup	(Likely) benign	1 lab	8b07963dee
8:59405008 CYP7A1 G>T	8	59405008	59405008	G	T	CYP7A1	c.1119C>A	NM_000780.4	NP_000771.2:p.(His373Gln)	NC_000008.10:g.59405008G>T	(Likely) pathogenic	1 lab	8b0e441609
15:48780602 FBN1 G>A	15	48780602	48780602	G	A	FBN1	c.3171C>T	NM_000138.5	NP_000129.3:p.(Ser1057=)	NC_000015.9:g.48780602G>A	(Likely) benign	1 lab	8b111a076a
12:88479939 CEP290 A>C	12	88479939	88479939	A	C	CEP290	c.4314T>G	NM_025114.4	NP_079390.3:p.(Ala1438=)	NC_000012.11:g.88479939A>C	(Likely) benign	1 lab	8b1a35c8b1
16:49764751 ZNF423 C>T	16	49764751	49764751	C	T	ZNF423	c.28G>A	NM_001271620.2	NP_001258549.1:p.(Asp10Asn)	NC_000016.9:g.49764751C>T	VUS	1 lab	8b1a615405
7:103629778 RELN T>G	7	103629778	103629778	T	G	RELN	c.26A>C	NM_005045.4	NP_005036.2:p.(Gln9Pro)	NC_000007.13:g.103629778T>G	(Likely) benign	1 lab	8b1a996d00
17:56774162 RAD51C C>T	17	56774162	56774162	C	T	RAD51C	c.513C>T	NM_058216.3	NP_478123.1:p.(Asp171=)	NC_000017.10:g.56774162C>T	(Likely) benign	1 lab	8b1ad3d2a2
7:143027912 CLCN1 A>G	7	143027912	143027912	A	G	CLCN1	c.901A>G	NM_000083.3	NP_000074.3:p.(Asn301Asp)	NC_000007.13:g.143027912A>G	VUS	1 lab	8b21d319d9
11:68157574 LRP5 G>A	11	68157574	68157574	G	A	LRP5	c.1584+54G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68157574G>A	(Likely) benign	1 lab	8b273e8c9a
11:68216300 LRP5 C>T	11	68216300	68216300	C	T	LRP5	c.4610C>T	NM_002335.4	NP_002326.2:p.(Ala1537Val)	NC_000011.9:g.68216300C>T	VUS	1 lab	8b28812b7f
16:58001068 CNGB1 C>T	16	58001068	58001068	C	T	CNGB1	c.123G>A	NM_001297.5	NP_001288.3:p.(Pro41=)	NC_000016.9:g.58001068C>T	(Likely) benign	1 lab	8b2c621d36
9:107584875 ABCA1 A>G	9	107584875	107584875	A	G	ABCA1	c.2730T>C	NM_005502.4	NP_005493.2:p.(Asp910=)	NC_000009.11:g.107584875A>G	(Likely) benign	1 lab	8b2cdb72af
2:24933950 NCOA1 G>A	2	24933950	24933950	G	A	NCOA1	c.2569G>A	NM_001362950.1	NP_001349879.1:p.(Ala857Thr)	NC_000002.11:g.24933950G>A	(Likely) benign	1 lab	8b2e23deac
X:32902299 DMD Ref too long to show for this DEL>A	X	32902299	32950412	Ref too long to show for this DEL	A	DMD	c.94-82475_94-34363del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32902300_32950412del	VUS	1 lab	8b2f95f64a
2:51085310 MISSING Ref too long to show for this DEL>G	2	51085310	51306373	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.51085313_51306373del	(Likely) pathogenic	1 lab	8b32217c0d
11:2593251 KCNQ1 G>A	11	2593251	2593251	G	A	KCNQ1	c.692G>A	NM_000218.3	NP_000209.2:p.(Arg231His)	NC_000011.9:g.2593251G>A	(Likely) pathogenic	1 lab	8b360c5383
16:57009376 CETP T>A	16	57009376	57009376	T	A	CETP	c.981+313T>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57009376T>A	(Likely) benign	1 lab	8b3cf90910
2:21235064 APOB G>A	2	21235064	21235064	G	A	APOB	c.4676C>T	NM_000384.3	NP_000375.3:p.(Ala1559Val)	NC_000002.11:g.21235064G>A	VUS	1 lab	8b45d7de30
12:125292387 SCARB1 T>C	12	125292387	125292387	T	C	SCARB1	c.929A>G	NM_001367981.1	NP_001354910.1:p.(Asn310Ser)	NC_000012.11:g.125292387T>C	VUS	1 lab	8b46281141
16:28354287 NPIPB6 G>GGAC	16	28354287	28354288	G	GGAC	NPIPB6	c.918_919insGTC	NM_001282524.2	NP_001269453.1:p.(Ala306_Pro307insVal)	NC_000016.9:g.28354287_28354288insGAC	(Likely) benign	1 lab	8b4654df90
12:122255315 SETD1B C>A	12	122255315	122255315	C	A	SETD1B	c.3017C>A	NM_001353345.2	NP_001340274.1:p.(Pro1006His)	NC_000012.11:g.122255315C>A	VUS	1 lab	8b48072ba8
11:118360862 KMT2A C>T	11	118360862	118360862	C	T	KMT2A	c.4594C>T	NM_001197104.2	NP_001184033.1:p.(Arg1532Cys)	NC_000011.9:g.118360862C>T	(Likely) benign	1 lab	8b4aec957e
10:100190415 HPS1 G>C	10	100190415	100190415	G	C	HPS1	c.681C>G	NM_000195.5	NP_000186.2:p.(Ser227Arg)	NC_000010.10:g.100190415G>C	VUS	1 lab	8b4bf4f13a
12:125295994 SCARB1 AT>A	12	125295994	125295998	AT	A	SCARB1	c.726+421del	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125295998del	(Likely) benign	1 lab	8b5a3c7c96
19:45412145 APOE C>T	19	45412145	45412145	C	T	APOE	c.670C>T	NM_001302688.2	NP_001289617.1:p.(Arg224Cys)	NC_000019.9:g.45412145C>T	VUS	1 lab	8b5a6c93f8
6:72892116 RIMS1 G>A	6	72892116	72892116	G	A	RIMS1	c.942G>A	NM_014989.6	NP_055804.2:p.(Arg314=)	NC_000006.11:g.72892116G>A	(Likely) benign	1 lab	8b5eb770a3
11:5247586 HBB C>T	11	5247586	5247586	C	T	HBB	c.315+221G>A	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5247586C>T	(Likely) pathogenic	1 lab	8b60710f53
2:179604766 TTN T>A	2	179604766	179604766	T	A	TTN	c.13194A>T	NM_001267550.2	NP_001254479.2:p.(Gln4398His)	NC_000002.11:g.179604766T>A	VUS	1 lab	8b6513767d
20:42744750 JPH2 C>T	20	42744750	42744750	C	T	JPH2	c.1565G>A	NM_020433.5	NP_065166.2:p.(Arg522Gln)	NC_000020.10:g.42744750C>T	VUS	1 lab	8b66dfeeac
11:8959545 ASCL3 C>A	11	8959545	8959545	C	A	ASCL3	c.164G>T	NM_020646.2	NP_065697.1:p.(Arg55Leu)	NC_000011.9:g.8959545C>A	(Likely) benign	1 lab	8b6c9ea50c
21:46876437 COL18A1 C>T	21	46876437	46876437	C	T	COL18A1	c.993C>T	NM_130444.3	NP_569711.2:p.(Ala331=)	NC_000021.8:g.46876437C>T	(Likely) benign	1 lab	8b7559a4be
X:39933138 BCOR T>C	X	39933138	39933138	T	C	BCOR	c.1461A>G	NM_001123385.2	NP_001116857.1:p.(Leu487=)	NC_000023.10:g.39933138T>C	(Likely) benign	1 lab	8b820d0370
11:88961071 TYR A>G	11	88961071	88961071	A	G	TYR	c.1117A>G	NM_000372.5	NP_000363.1:p.(Thr373Ala)	NC_000011.9:g.88961071A>G	(Likely) pathogenic	1 lab	8b83694af7
21:46798080 MISSING Ref too long to show for this DEL>G	21	46798080	46839690	Ref too long to show for this DEL	G	MISSING				NC_000021.8:g.46798081_46839690del	(Likely) pathogenic	1 lab	8b8596a08a
19:11230916 LDLR G>T	19	11230916	11230916	G	T	LDLR	c.1987+7G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230916G>T	(Likely) benign	1 lab	8b86696082
14:55625267 MISSING C>Alt too long to show for this DUP	14	55625267	55681967	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.55625269_55681967dup	VUS	1 lab	8b8868fdfd
4:100503088 MTTP A>T	4	100503088	100503088	A	T	MTTP	c.88A>T	NM_000253.4	NP_000244.2:p.(Asn30Tyr)	NC_000004.11:g.100503088A>T	(Likely) pathogenic	1 lab	8b8a6fde18
8:19809403 LPL G>A	8	19809403	19809403	G	A	LPL	c.373G>A	NM_000237.3	NP_000228.1:p.(Ala125Thr)	NC_000008.10:g.19809403G>A	VUS	1 lab	8b90665c68
1:55527479 PCSK9 A>G	1	55527479	55527479	A	G	PCSK9	c.1863+250A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55527479A>G	(Likely) benign	1 lab	8b911cb39f
3:141327474 RASA2 G>A	3	141327474	141327474	G	A	RASA2	c.2172G>A	NM_001303246.3	NP_001290175.1:p.(Leu724=)	NC_000003.11:g.141327474G>A	(Likely) benign	1 lab	8b95132c62
2:21225758 APOB G>A	2	21225758	21225758	G	A	APOB	c.12536C>T	NM_000384.3	NP_000375.3:p.(Thr4179Ile)	NC_000002.11:g.21225758G>A	VUS	1 lab	8b97a45f3d
3:154864957 MME G>A	3	154864957	154864957	G	A	MME	c.1441G>A	NM_007288.3	NP_009219.2:p.(Gly481Ser)	NC_000003.11:g.154864957G>A	VUS	1 lab	8ba0fcf9f8
7:128494921 FLNC C>T	7	128494921	128494921	C	T	FLNC	c.7090C>T	NM_001458.5	NP_001449.3:p.(Arg2364Cys)	NC_000007.13:g.128494921C>T	VUS	1 lab	8ba27e838b
1:11850833 MTHFR G>GTCAT	1	11850833	11850838	G	GTCAT	MTHFR	c.1994_1997dup	NM_001330358.2	NP_001317287.1:p.(Asp666GlufsTer2)	NC_000001.10:g.11850835_11850838dup	VUS	1 lab	8ba5a0c470
15:58724383 LIPC A>G	15	58724383	58724383	A	G	LIPC	c.88+64A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724383A>G	(Likely) benign	1 lab	8c08a442e1
1:237755126 RYR2 CTA>C	1	237755126	237755129	CTA	C	RYR2	c.4250_4251del	NM_001035.3	NP_001026.2:p.(Tyr1417Ter)	NC_000001.10:g.237755128_237755129del	VUS	1 lab	8ba88b3352
18:45391623 SMAD2 T>C	18	45391623	45391623	T	C	SMAD2	c.656-119A>G	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45391623T>C	(Likely) benign	1 lab	8bb0a76f84
1:55505266 PCSK9 G>T	1	55505266	55505266	G	T	PCSK9	c.-245G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505266G>T	(Likely) benign	1 lab	8bb45bc1e0
10:125780752 CHST15 CGGG>C	10	125780752	125780764	CGGG	C	CHST15	c.1364_1366del	NM_001270765.2	NP_001257694.1:p.(Pro455del)	NC_000010.10:g.125780762_125780764del	(Likely) benign	1 lab	8bbcb6b55e
2:179611678 TTN G>T	2	179611678	179611678	G	T	TTN	c.15449C>A	NM_133379.5	NP_596870.2:p.(Thr5150Lys)	NC_000002.11:g.179611678G>T	VUS	1 lab	8bbd7ff216
12:121396005 MISSING Ref too long to show for this DEL>G	12	121396005	121407346	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.121396006_121407346del	VUS	1 lab	8bbfe0c887
5:156368531 MISSING A>Alt too long to show for this DUP	5	156368531	156434655	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.156368532_156434655dup	VUS	1 lab	8bcd5583bc
2:114475433 SLC35F5 G>GA	2	114475433	114475443	G	GA	SLC35F5	c.1497-7dup	NM_025181.5	NP_079457.2:p.?	NC_000002.11:g.114475443dup	(Likely) benign	1 lab	8bdacc3c57
14:76330181 TTLL5 G>C	14	76330181	76330181	G	C	TTLL5	c.3498G>C	NM_015072.5	NP_055887.3:p.(Leu1166=)	NC_000014.8:g.76330181G>C	(Likely) benign	1 lab	8bdb7fe175
21:27372411 APP G>C	21	27372411	27372411	G	C	APP	c.952C>G	NM_000484.4	NP_000475.1:p.(Pro318Ala)	NC_000021.8:g.27372411G>C	VUS	1 lab	8bde96f903
8:10467628 RP1L1 G>T	8	10467628	10467628	G	T	RP1L1	c.3980C>A	NM_178857.6	NP_849188.4:p.(Thr1327Lys)	NC_000008.10:g.10467628G>T	(Likely) benign	1 lab	8be2ebffac
1:243652446 SDCCAG8 C>G	1	243652446	243652446	C	G	SDCCAG8	c.2112+4C>G	NM_006642.5	NP_006633.1:p.?	NC_000001.10:g.243652446C>G	(Likely) benign	1 lab	8be364bbd9
19:53618548 ZNF415 A>G	19	53618548	53618548	A	G	ZNF415	c.282T>C	NM_001352130.2	NP_001339059.1:p.(Asn94=)	NC_000019.9:g.53618548A>G	(Likely) benign	1 lab	8be406a568
19:49705310 TRPM4 T>G	19	49705310	49705310	T	G	TRPM4	c.3043T>G	NM_017636.4	NP_060106.2:p.(Tyr1015Asp)	NC_000019.9:g.49705310T>G	VUS	1 lab	8be81a9031
20:10639098 JAG1 GCA>G	20	10639098	10639112	GCA	G	JAG1	c.694+16_694+17del	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10639111_10639112del	(Likely) benign	1 lab	8bede4f5e2
8:110131636 TRHR T>C	8	110131636	110131636	T	C	TRHR	c.1149T>C	NM_003301.7	NP_003292.1:p.(Ser383=)	NC_000008.10:g.110131636T>C	(Likely) benign	1 lab	8bf20547c2
9:137582894 COL5A1 G>T	9	137582894	137582894	G	T	COL5A1	c.246G>T	NM_000093.5	NP_000084.3:p.(Gln82His)	NC_000009.11:g.137582894G>T	VUS	1 lab	8bf557c196
1:109477418 CLCC1 G>A	1	109477418	109477418	G	A	CLCC1	c.1239C>T	NM_001377470.1	NP_001364399.1:p.(Pro413=)	NC_000001.10:g.109477418G>A	(Likely) benign	1 lab	8bfbd99248
15:45408709 DUOXA2 C>A	15	45408709	45408709	C	A	DUOXA2	c.341-5C>A	NM_207581.4	NP_997464.2:p.?	NC_000015.9:g.45408709C>A	(Likely) benign	1 lab	8bfc9a8b9e
6:42689590 PRPH2 G>C	6	42689590	42689590	G	C	PRPH2	c.483C>G	NM_000322.5	NP_000313.2:p.(Ile161Met)	NC_000006.11:g.42689590G>C	(Likely) benign	1 lab	8bfce3c88d
2:75167484 MISSING C>Alt too long to show for this DUP	2	75167484	75226611	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.75167485_75226611dup	VUS	1 lab	8bfdb4fd45
X:73811773 RLIM C>T	X	73811773	73811773	C	T	RLIM	c.1377G>A	NM_183353.3	NP_899196.1:p.(Ser459=)	NC_000023.10:g.73811773C>T	(Likely) benign	1 lab	8c0022384e
1:180780606 XPR1 A>G	1	180780606	180780606	A	G	XPR1	c.745A>G	NM_004736.4	NP_004727.2:p.(Ile249Val)	NC_000001.10:g.180780606A>G	(Likely) benign	1 lab	8c00cccd5d
1:43215951 P3H1 C>T	1	43215951	43215951	C	T	P3H1	c.1626G>A	NM_022356.4	NP_071751.3:p.(Thr542=)	NC_000001.10:g.43215951C>T	(Likely) benign	1 lab	8c01243a7c
9:107624093 ABCA1 T>C	9	107624093	107624093	T	C	ABCA1	c.422-12A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624093T>C	(Likely) benign	1 lab	8c037b0695
1:26764790 DHDDS C>T	1	26764790	26764790	C	T	DHDDS	c.-123+15C>T	NM_001319959.2	NP_001306888.1:p.?	NC_000001.10:g.26764790C>T	(Likely) benign	1 lab	8c0c7ec823
2:29455276 ALK G>A	2	29455276	29455276	G	A	ALK	c.2526C>T	NM_004304.5	NP_004295.2:p.(Ala842=)	NC_000002.11:g.29455276G>A	(Likely) benign	1 lab	8c118ca1b8
14:105238861 AKT1 C>G	14	105238861	105238861	C	G	AKT1	c.1173-72G>C	NM_005163.2	NP_005154.2:p.?	NC_000014.8:g.105238861C>G	(Likely) benign	1 lab	8c12557c1f
11:116661556 APOA5 T>G	11	116661556	116661556	T	G	APOA5	c.389A>C	NM_052968.5	NP_443200.2:p.(Lys130Thr)	NC_000011.9:g.116661556T>G	VUS	1 lab	8c1aff0cab
10:52751630 PRKG1 G>T	10	52751630	52751630	G	T	PRKG1	c.266+226G>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.52751630G>T	(Likely) benign	1 lab	8c1fc18273
1:74834717 TNNI3K A>G	1	74834717	74834717	A	G	TNNI3K	c.1333A>G	NM_015978.3	NP_057062.1:p.(Ile445Val)	NC_000001.10:g.74834717A>G	VUS	1 lab	8c20bd45bd
1:41669948 MISSING C>Alt too long to show for this DUP	1	41669948	42449094	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.41669949_42449094dup	VUS	1 lab	8c20e83e65
6:31237769 HLA-C G>A	6	31237769	31237769	G	A	HLA-C	c.989C>T	NM_002117.6	NP_002108.4:p.(Ala330Val)	NC_000006.11:g.31237769G>A	(Likely) benign	1 lab	8c24efe2fb
X:123017894 XIAP T>Alt too long to show for this DUP	X	123017894	123021887	T	Alt too long to show for this DUP	XIAP	c.-32-1586_878-582dup	NM_001167.4	NP_001158.2:p.?	NC_000023.10:g.123017895_123021887dup	VUS	1 lab	8c28ca2e98
2:61009821 PAPOLG G>T	2	61009821	61009821	G	T	PAPOLG	c.1028G>T	NM_022894.4	NP_075045.2:p.(Gly343Val)	NC_000002.11:g.61009821G>T	(Likely) benign	1 lab	8c2a244a20
17:78318681 RNF213 G>A	17	78318681	78318681	G	A	RNF213	c.6546G>A	NM_001256071.3	NP_001243000.2:p.(Thr2182=)	NC_000017.10:g.78318681G>A	(Likely) benign	1 lab	8c2e17232c
2:44102549 ABCG8 A>T	2	44102549	44102549	A	T	ABCG8	c.1753A>T	NM_022437.3	NP_071882.1:p.(Thr585Ser)	NC_000002.11:g.44102549A>T	VUS	1 lab	8c2f2a200c
7:45104125 CCM2 TACA>T	7	45104125	45104130	TACA	T	CCM2	c.355_357del	NM_001363458.2	NP_001350387.1:p.(Asn119del)	NC_000007.13:g.45104128_45104130del	VUS	1 lab	8c32eff63f
7:138591862 KIAA1549 G>C	7	138591862	138591862	G	C	KIAA1549	c.3277-14C>G	NM_001164665.2	NP_001158137.1:p.?	NC_000007.13:g.138591862G>C	(Likely) benign	1 lab	8c38240f76
16:77468524 ADAMTS18 C>T	16	77468524	77468524	C	T	ADAMTS18	c.69G>A	NM_199355.4	NP_955387.1:p.(Ala23=)	NC_000016.9:g.77468524C>T	(Likely) benign	1 lab	8c3afc3dc4
1:41493983 SCMH1 A>G	1	41493983	41493983	A	G	SCMH1	c.1593T>C	NM_001350667.2	NP_001337596.1:p.(Asp531=)	NC_000001.10:g.41493983A>G	(Likely) benign	1 lab	8c3bd4c64e
2:44065681 ABCG5 G>T	2	44065681	44065681	G	T	ABCG5	c.138C>A	NM_022436.3	NP_071881.1:p.(Ser46Arg)	NC_000002.11:g.44065681G>T	VUS	1 lab	8c67e9f122
16:4733201 MGRN1 G>Alt too long to show for this DUP	16	4733201	4733619	G	Alt too long to show for this DUP	MGRN1	c.1483-23_1529-225dup	NM_015246.4	NP_056061.1:p.?	NC_000016.9:g.4733202_4733619dup	VUS	1 lab	8c413fcb76
19:11118559 SMARCA4 T>C	19	11118559	11118559	T	C	SMARCA4	c.2002-19T>C	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11118559T>C	(Likely) benign	1 lab	8c44817d7a
14:105168111 INF2 A>T	14	105168111	105168111	A	T	INF2	c.391+18A>T	NM_022489.4	NP_071934.3:p.?	NC_000014.8:g.105168111A>T	(Likely) benign	1 lab	8c45048644
8:38271538 FGFR1 G>GT	8	38271538	38271539	G	GT	FGFR1	c.2159dup	NM_001174064.2	NP_001167535.1:p.(Tyr720Ter)	NC_000008.10:g.38271539dup	(Likely) pathogenic	1 lab	8c48c03bec
11:68703793 IGHMBP2 T>A	11	68703793	68703793	T	A	IGHMBP2	c.1845T>A	NM_002180.3	NP_002171.2:p.(Arg615=)	NC_000011.9:g.68703793T>A	(Likely) benign	1 lab	8c4d150df5
11:5246713 HBB TTTTTA>T	11	5246713	5246720	TTTTTA	T	HBB	c.*110_*114del	NM_000518.5	NP_000509.1:p.?	NC_000011.9:g.5246716_5246720del	(Likely) pathogenic	1 lab	8c539bd309
1:94490533 ABCA4 C>T	1	94490533	94490533	C	T	ABCA4	c.4611G>A	NM_000350.3	NP_000341.2:p.(Thr1537=)	NC_000001.10:g.94490533C>T	(Likely) benign	1 lab	8c53ab07ae
6:56417192 DST C>T	6	56417192	56417192	C	T	DST	c.10041G>A	NM_001144769.5	NP_001138241.1:p.(Leu3347=)	NC_000006.11:g.56417192C>T	(Likely) benign	1 lab	8c5488c8c8
14:23883068 MYH7 C>A	14	23883068	23883068	C	A	MYH7	c.5690G>T	NM_000257.4	NP_000248.2:p.(Arg1897Leu)	NC_000014.8:g.23883068C>A	VUS	1 lab	8c54a3c288
19:16590019 CALR3 C>A	19	16590019	16590019	C	A	CALR3	c.1078G>T	NM_145046.5	NP_659483.2:p.(Glu360Ter)	NC_000019.9:g.16590019C>A	VUS	1 lab	8c5623ad89
9:135600046 MISSING C>Alt too long to show for this DUP	9	135600046	135721314	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.135600047_135721314dup	VUS	1 lab	8c5a46641d
16:23619287 PALB2 T>C	16	23619287	23619287	T	C	PALB2	c.3248A>G	NM_024675.4	NP_078951.2:p.(Glu1083Gly)	NC_000016.9:g.23619287T>C	VUS	1 lab	8c5b169cdf
2:179459147 TTN A>G	2	179459147	179459147	A	G	TTN	c.58074T>C	NM_001267550.2	NP_001254479.2:p.(Arg19358=)	NC_000002.11:g.179459147A>G	(Likely) benign	1 lab	8c5c6c303c
16:920013 LMF1 G>A	16	920013	920013	G	A	LMF1	c.1286C>T	NM_022773.4	NP_073610.2:p.(Ala429Val)	NC_000016.9:g.920013G>A	VUS	1 lab	8c63c094a7
20:42788349 JPH2 T>C	20	42788349	42788349	T	C	JPH2	c.1078A>G	NM_020433.5	NP_065166.2:p.(Asn360Asp)	NC_000020.10:g.42788349T>C	VUS	1 lab	8c6703b79a
11:75905847 WNT11 C>T	11	75905847	75905847	C	T	WNT11	c.361G>A	NM_004626.3	NP_004617.2:p.(Ala121Thr)	NC_000011.9:g.75905847C>T	(Likely) benign	1 lab	8c69ea475a
7:81598298 CACNA2D1 AAAAT>A	7	81598298	81598313	AAAAT	A	CACNA2D1	c.2345-13_2345-10del	NM_001366867.1	NP_001353796.1:p.?	NC_000007.13:g.81598310_81598313del	(Likely) benign	1 lab	8c724a6ca9
20:31996305 SNTA1 G>A	20	31996305	31996305	G	A	SNTA1	c.*8C>T	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.31996305G>A	(Likely) benign	1 lab	8c749b88a5
10:68979429 CTNNA3 T>C	10	68979429	68979429	T	C	CTNNA3	c.779A>G	NM_013266.4	NP_037398.2:p.(Gln260Arg)	NC_000010.10:g.68979429T>C	(Likely) benign	1 lab	8c752182ee
10:88476282 LDB3 A>G	10	88476282	88476282	A	G	LDB3	c.1445A>G	NM_001171610.2	NP_001165081.1:p.(Tyr482Cys)	NC_000010.10:g.88476282A>G	VUS	1 lab	8c77347da9
6:32065891 TNXB G>A	6	32065891	32065891	G	A	TNXB	c.85C>T	NM_019105.8	NP_061978.6:p.(Arg29Trp)	NC_000006.11:g.32065891G>A	VUS	1 lab	8c78be024e
17:7751016 KDM6B A>C	17	7751016	7751016	A	C	KDM6B	c.1410A>C	NM_001080424.2	NP_001073893.1:p.(Pro470=)	NC_000017.10:g.7751016A>C	(Likely) benign	1 lab	8c7c6dfdf2
8:133900390 TG C>T	8	133900390	133900390	C	T	TG	c.2338C>T	NM_003235.5	NP_003226.4:p.(Gln780Ter)	NC_000008.10:g.133900390C>T	(Likely) pathogenic	1 lab	8c7cf3846c
11:47370301 MYBPC3 C>T	11	47370301	47370301	C	T	MYBPC3	c.655-209G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370301C>T	(Likely) benign	1 lab	8d8be075e4
2:133851293 NCKAP5 Ref too long to show for this DEL>G	2	133851293	133961087	Ref too long to show for this DEL	G	NCKAP5	c.207+10201_341+36256del	NM_207363.3	NP_997246.2:p.?	NC_000002.11:g.133851294_133961087del	VUS	1 lab	8c7fdcb534
3:97043780 EPHA6 Ref too long to show for this DEL>A	3	97043780	97180839	Ref too long to show for this DEL	A	EPHA6	c.1607-80212_1894+13265del	NM_001080448.3	NP_001073917.2:p.?	NC_000003.11:g.97043782_97180839del	VUS	1 lab	8c84bdebbd
1:215931922 USH2A C>CT	1	215931922	215931934	C	CT	USH2A	c.11389+14dup	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215931934dup	(Likely) benign	1 lab	8c883867e7
2:21255321 APOB G>C	2	21255321	21255321	G	C	APOB	c.1257C>G	NM_000384.3	NP_000375.3:p.(Pro419=)	NC_000002.11:g.21255321G>C	(Likely) benign	1 lab	8c944aa41e
6:7563971 DSP C>T	6	7563971	7563971	C	T	DSP	c.729C>T	NM_004415.4	NP_004406.2:p.(Arg243=)	NC_000006.11:g.7563971C>T	(Likely) benign	1 lab	8c94f2cd1b
7:138593867 KIAA1549 A>T	7	138593867	138593867	A	T	KIAA1549	c.3146T>A	NM_001164665.2	NP_001158137.1:p.(Val1049Glu)	NC_000007.13:g.138593867A>T	(Likely) benign	1 lab	8c9d8d7f1f
12:2786372 CACNA1C C>T	12	2786372	2786372	C	T	CACNA1C	c.5085C>T	NM_199460.4	NP_955630.3:p.(Asn1695=)	NC_000012.11:g.2786372C>T	(Likely) benign	1 lab	8caacbe08d
8:22054224 BMP1 C>T	8	22054224	22054224	C	T	BMP1	c.1797C>T	NM_006129.5	NP_006120.1:p.(Asn599=)	NC_000008.10:g.22054224C>T	(Likely) benign	1 lab	8cad1e9929
1:197404251 CRB1 T>A	1	197404251	197404251	T	A	CRB1	c.3186T>A	NM_001257965.2	NP_001244894.1:p.(Ala1062=)	NC_000001.10:g.197404251T>A	(Likely) benign	1 lab	8cb0830c7f
1:116946605 ATP1A1 T>C	1	116946605	116946605	T	C	ATP1A1	c.3043+8T>C	NM_001160233.2	NP_001153705.1:p.?	NC_000001.10:g.116946605T>C	(Likely) benign	1 lab	8cb32b0066
2:179550127 TTN T>A	2	179550127	179550127	T	A	TTN	c.28661-70A>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179550127T>A	(Likely) benign	1 lab	8cb532d348
3:53267183 TKT C>T	3	53267183	53267183	C	T	TKT	c.761G>A	NM_001258028.2	NP_001244957.1:p.(Arg254Gln)	NC_000003.11:g.53267183C>T	(Likely) benign	1 lab	8cb56eba0a
19:11233829 LDLR G>A	19	11233829	11233829	G	A	LDLR	c.2141-21G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233829G>A	(Likely) benign	1 lab	8cbead0a86
22:51153476 SHANK3 G>C	22	51153476	51153476	G	C	SHANK3	c.2490+1G>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51153476G>C	(Likely) pathogenic	1 lab	8cc06bbe3f
3:119367043 POPDC2 A>G	3	119367043	119367043	A	G	POPDC2	c.1073T>C	NM_001369919.2	NP_001356848.1:p.(Met358Thr)	NC_000003.11:g.119367043A>G	(Likely) benign	1 lab	8cc2c9a65f
17:1564476 PRPF8 C>T	17	1564476	1564476	C	T	PRPF8	c.4339-20G>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1564476C>T	(Likely) benign	1 lab	8cc30c6265
10:55581909 PCDH15 C>CTTAA	10	55581909	55581915	C	CTTAA	PCDH15	c.5594_5597dup	NM_001142763.2	NP_001136235.1:p.(Lys1866AsnfsTer2)	NC_000010.10:g.55581912_55581915dup	VUS	1 lab	8cc44b67bc
17:62892919 LRRC37A3 C>A	17	62892919	62892919	C	A	LRRC37A3	c.457G>T	NM_199340.5	NP_955372.2:p.(Asp153Tyr)	NC_000017.10:g.62892919C>A	(Likely) benign	1 lab	8cc9ea4e18
16:67977970 LCAT G>A	16	67977970	67977970	G	A	LCAT	c.35C>T	NM_000229.2	NP_000220.1:p.(Thr12Met)	NC_000016.9:g.67977970G>A	VUS	1 lab	8cd017fc4b
5:89938567 ADGRV1 C>T	5	89938567	89938567	C	T	ADGRV1	c.2355C>T	NM_032119.4	NP_115495.3:p.(Pro785=)	NC_000005.9:g.89938567C>T	(Likely) benign	1 lab	8cd2365c35
10:18439808 CACNB2 T>TTG	10	18439808	18439810	T	TTG	CACNB2	c.37-3_37-2insGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insGT	(Likely) benign	1 lab	8cd71a31d2
2:48032765 MSH6 A>G	2	48032765	48032765	A	G	MSH6	c.3565A>G	NM_000179.3	NP_000170.1:p.(Thr1189Ala)	NC_000002.11:g.48032765A>G	VUS	1 lab	8cdc5fb12b
18:7947845 PTPRM Ref too long to show for this DEL>T	18	7947845	7974157	Ref too long to show for this DEL	T	PTPRM	c.664-1333_1132+18745del	NM_001105244.2	NP_001098714.1:p.?	NC_000018.9:g.7947846_7974157del	VUS	1 lab	8cdd37698e
7:116165160 CAV1 G>T	7	116165160	116165160	G	T	CAV1	c.-763G>T	NM_001172895.1	NP_001166366.1:p.?	NC_000007.13:g.116165160G>T	(Likely) benign	1 lab	8cde70e05d
19:45411042 APOE G>A	19	45411042	45411042	G	A	APOE	c.147G>A	NM_001302688.2	NP_001289617.1:p.(Ala49=)	NC_000019.9:g.45411042G>A	(Likely) benign	1 lab	8ce42258b5
12:21998743 ABCC9 C>T	12	21998743	21998743	C	T	ABCC9	c.2890G>A	NM_020297.4	NP_064693.2:p.(Asp964Asn)	NC_000012.11:g.21998743C>T	VUS	1 lab	8ce6ec8c03
2:21263931 APOB A>G	2	21263931	21263931	A	G	APOB	c.262T>C	NM_000384.3	NP_000375.3:p.(Cys88Arg)	NC_000002.11:g.21263931A>G	VUS	1 lab	8ce77ee770
3:123456298 MYLK G>A	3	123456298	123456298	G	A	MYLK	c.681C>T	NM_053025.4	NP_444253.3:p.(Asp227=)	NC_000003.11:g.123456298G>A	(Likely) benign	1 lab	8cf038e992
2:74114396 MISSING A>Alt too long to show for this DUP	2	74114396	74139261	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.74114397_74139261dup	VUS	1 lab	8cf32db374
2:21231202 APOB A>G	2	21231202	21231202	A	G	APOB	c.8538T>C	NM_000384.3	NP_000375.3:p.(Phe2846=)	NC_000002.11:g.21231202A>G	(Likely) benign	1 lab	8cf7007ada
11:35327637 SLC1A2 A>G	11	35327637	35327637	A	G	SLC1A2	c.714T>C	NM_004171.4	NP_004162.2:p.(Asp238=)	NC_000011.9:g.35327637A>G	(Likely) benign	1 lab	8cf9f786ce
16:1797272 MAPK8IP3 T>C	16	1797272	1797272	T	C	MAPK8IP3	c.990T>C	NM_001318852.2	NP_001305781.1:p.(Ser330=)	NC_000016.9:g.1797272T>C	(Likely) benign	1 lab	8cfe1bc16a
9:107584857 ABCA1 G>A	9	107584857	107584857	G	A	ABCA1	c.2748C>T	NM_005502.4	NP_005493.2:p.(Val916=)	NC_000009.11:g.107584857G>A	(Likely) benign	1 lab	8cfeb46683
17:14090299 MISSING Ref too long to show for this DEL>A	17	14090299	15450208	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.14090301_15450208del	(Likely) pathogenic	1 lab	8d012aaf5b
19:11222231 LDLR T>G	19	11222231	11222231	T	G	LDLR	c.1102T>G	NM_000527.5	NP_000518.1:p.(Cys368Gly)	NC_000019.9:g.11222231T>G	(Likely) pathogenic	1 lab	8d08dfb76c
19:36399053 TYROBP G>A	19	36399053	36399053	G	A	TYROBP	c.61+17C>T	NM_003332.4	NP_003323.1:p.?	NC_000019.9:g.36399053G>A	(Likely) benign	1 lab	8d0dcd3e7d
14:105173924 INF2 T>C	14	105173924	105173924	T	C	INF2	c.1320T>C	NM_022489.4	NP_071934.3:p.(Pro440=)	NC_000014.8:g.105173924T>C	(Likely) benign	1 lab	8d13a20ae2
8:121486179 MISSING T>Alt too long to show for this DUP	8	121486179	121565553	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.121486180_121565553dup	VUS	1 lab	8d14332bba
22:51064670 ARSA G>A	22	51064670	51064670	G	A	ARSA	c.891C>T	NM_000487.6	NP_000478.3:p.(Ser297=)	NC_000022.10:g.51064670G>A	(Likely) benign	1 lab	8d21f0e4bd
17:79517729 FAAP100 G>A	17	79517729	79517729	G	A	FAAP100	c.791C>T	NM_025161.6	NP_079437.5:p.(Ala264Val)	NC_000017.10:g.79517729G>A	(Likely) benign	1 lab	8d236c286a
2:85769199 MAT2A A>G	2	85769199	85769199	A	G	MAT2A	c.550-79A>G	NM_005911.6	NP_005902.1:p.?	NC_000002.11:g.85769199A>G	(Likely) benign	1 lab	8d23d295e3
1:25883750 LDLRAP1 C>T	1	25883750	25883750	C	T	LDLRAP1	c.451C>T	NM_015627.3	NP_056442.2:p.(Arg151Trp)	NC_000001.10:g.25883750C>T	(Likely) pathogenic	1 lab	8d28ec151c
16:1020816 LMF1 C>T	16	1020816	1020816	C	T	LMF1	c.165G>A	NM_022773.4	NP_073610.2:p.(Val55=)	NC_000016.9:g.1020816C>T	(Likely) benign	1 lab	8d2b395e69
11:64977484 CAPN1 C>T	11	64977484	64977484	C	T	CAPN1	c.1864-5C>T	NM_001198869.2	NP_001185798.1:p.?	NC_000011.9:g.64977484C>T	(Likely) benign	1 lab	8d2c51c2f3
2:179414705 TTN-AS1 A>T	2	179414705	179414705	A	T	TTN-AS1	n.2043+7617A>T	NR_038272.1		NC_000002.11:g.179414705A>T	(Likely) benign	1 lab	8d3009ab64
11:17464853 ABCC8 C>CAA	11	17464853	17464855	C	CAA	ABCC8	c.1337_1338dup	NM_001287174.2	NP_001274103.1:p.(Val447LeufsTer4)	NC_000011.9:g.17464854_17464855dup	(Likely) pathogenic	1 lab	8d30c477ac
11:17526182 USH1C G>A	11	17526182	17526182	G	A	USH1C	c.2184+12C>T	NM_153676.4	NP_710142.1:p.?	NC_000011.9:g.17526182G>A	(Likely) benign	1 lab	8d3511f340
8:133945543 TG T>TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	8	133945543	133945561	T	TGGTGTATATTTGTGTGTTTGGAGCTGTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTG	TG	c.4817-246_4817-245insTTGGAGCTGTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133945560_133945561insTTGGAGCTGTGTGTGTGTGTGTGTGTGTGTATTTGGATGGGTATTTGTGTATTTGTGTGTGGGGGGTTTTTGTGTGTATATTTGGGTGTATATTTGTGTGTGTCTGTGTGTATTTAGGTGTATATTTGTGTGTGTTTTTGTGTTTGGAGGTGCATGTGCATGTGTGTGTATATATTTGTATGTATTTGGAGGGGGGCGTGTATTTGTGTATCCACATATTTGTGTGTGGGGGGGTTTGTGTGTATATTTGGGTGTATATTTGTGTGT	(Likely) benign	1 lab	8d36263937
7:103180918 RELN G>A	7	103180918	103180918	G	A	RELN	c.6672-16C>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103180918G>A	(Likely) benign	1 lab	8d37457798
X:77245040 ATP7A A>G	X	77245040	77245040	A	G	ATP7A	c.922A>G	NM_000052.7	NP_000043.4:p.(Ile308Val)	NC_000023.10:g.77245040A>G	(Likely) benign	1 lab	8d3777c1d8
11:89120447 MISSING G>Alt too long to show for this DUP	11	89120447	89474795	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.89120448_89474795dup	VUS	1 lab	8d3fb62ece
20:62070962 KCNQ2 C>T	20	62070962	62070962	C	T	KCNQ2	c.916G>A	NM_172107.4	NP_742105.1:p.(Ala306Thr)	NC_000020.10:g.62070962C>T	(Likely) pathogenic	1 lab	8d41844f50
11:47371263 MYBPC3 T>C	11	47371263	47371263	T	C	MYBPC3	c.654+62A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371263T>C	(Likely) benign	1 lab	8d420aef68
2:179463744 TTN C>T	2	179463744	179463744	C	T	TTN	c.56693G>A	NM_001267550.2	NP_001254479.2:p.(Arg18898His)	NC_000002.11:g.179463744C>T	VUS	1 lab	8d46ad4a36
4:119674051 SEC24D G>GA	4	119674051	119674061	G	GA	SEC24D	c.1422-9dup	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119674061dup	(Likely) benign	1 lab	8d48411b67
9:107550696 ABCA1 G>A	9	107550696	107550696	G	A	ABCA1	c.6069+11C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550696G>A	(Likely) benign	1 lab	8d49043ed0
2:1680728 PXDN G>A	2	1680728	1680728	G	A	PXDN	c.819C>T	NM_012293.3	NP_036425.1:p.(Pro273=)	NC_000002.11:g.1680728G>A	(Likely) benign	1 lab	8d597b9f0b
1:186022939 HMCN1 A>G	1	186022939	186022939	A	G	HMCN1	c.6701-18A>G	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186022939A>G	(Likely) benign	1 lab	8d62f21542
6:75814903 COL12A1 T>A	6	75814903	75814903	T	A	COL12A1	c.8265+19A>T	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75814903T>A	(Likely) benign	1 lab	8d6675ee6e
6:82461538 TENT5A G>A	6	82461538	82461538	G	A	TENT5A	c.321C>T	NM_017633.3	NP_060103.2:p.(Arg107=)	NC_000006.11:g.82461538G>A	(Likely) benign	1 lab	8d6f7a8831
15:71548937 THSD4 T>C	15	71548937	71548937	T	C	THSD4	c.913-15T>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71548937T>C	(Likely) benign	1 lab	8d7092ab23
15:91328208 BLM C>T	15	91328208	91328208	C	T	BLM	c.2720C>T	NM_000057.4	NP_000048.1:p.(Thr907Met)	NC_000015.9:g.91328208C>T	(Likely) benign	1 lab	8d724f4fd7
9:140710487 EHMT1 G>A	9	140710487	140710487	G	A	EHMT1	c.3347G>A	NM_024757.5	NP_079033.4:p.(Arg1116Gln)	NC_000009.11:g.140710487G>A	VUS	1 lab	8d750de2ed
10:121429647 BAG3 A>G	10	121429647	121429647	A	G	BAG3	c.465A>G	NM_004281.4	NP_004272.2:p.(Ala155=)	NC_000010.10:g.121429647A>G	(Likely) benign	1 lab	8d75299002
2:21232121 APOB C>A	2	21232121	21232121	C	A	APOB	c.7619G>T	NM_000384.3	NP_000375.3:p.(Gly2540Val)	NC_000002.11:g.21232121C>A	(Likely) benign	1 lab	8d7bc66f4e
5:138163307 CTNNA1 A>ACTCGTCCTGCACGCGTGATGACCGT	5	138163307	138163333	A	ACTCGTCCTGCACGCGTGATGACCGT	CTNNA1	c.964_988dup	NM_001903.5	NP_001894.2:p.(Arg330LeufsTer6)	NC_000005.9:g.138163309_138163333dup	(Likely) pathogenic	1 lab	8d7db1e404
6:49423956 MMUT T>TA	6	49423956	49423967	T	TA	MMUT	c.754-7dup	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49423967dup	(Likely) benign	1 lab	8d80eaee19
17:48263807 COL1A1 G>A	17	48263807	48263807	G	A	COL1A1	c.3876C>T	NM_000088.4	NP_000079.2:p.(Asn1292=)	NC_000017.10:g.48263807G>A	(Likely) benign	1 lab	8d82ca91e3
22:37154353 IFT27 C>T	22	37154353	37154353	C	T	IFT27	c.*2G>A	NM_001177701.3	NP_001171172.1:p.?	NC_000022.10:g.37154353C>T	(Likely) benign	1 lab	8d8ec52a78
3:53769492 CACNA1D G>A	3	53769492	53769492	G	A	CACNA1D	c.2713G>A	NM_001128840.3	NP_001122312.1:p.(Ala905Thr)	NC_000003.11:g.53769492G>A	VUS	1 lab	8d927bd023
12:21327519 SLCO1B1 C>T	12	21327519	21327519	C	T	SLCO1B1	c.235C>T	NM_006446.5	NP_006437.3:p.(Leu79Phe)	NC_000012.11:g.21327519C>T	(Likely) benign	1 lab	8d93967b0a
17:61086969 TANC2 C>T	17	61086969	61086969	C	T	TANC2	c.49C>T	NM_025185.4	NP_079461.2:p.(Arg17Cys)	NC_000017.10:g.61086969C>T	VUS	1 lab	8d982bcb81
3:148896190 CP A>C	3	148896190	148896190	A	C	CP	c.2878+12T>G	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148896190A>C	(Likely) benign	1 lab	8d9de36ac8
19:7532208 ARHGEF18 C>A	19	7532208	7532208	C	A	ARHGEF18	c.2392C>A	NM_001130955.2	NP_001124427.2:p.(Gln798Lys)	NC_000019.9:g.7532208C>A	(Likely) benign	1 lab	8da19180a8
2:179426991 TTN T>G	2	179426991	179426991	T	G	TTN	c.83868A>C	NM_001267550.2	NP_001254479.2:p.(Ala27956=)	NC_000002.11:g.179426991T>G	(Likely) benign	1 lab	8da5ad25ef
6:123591015 TRDN T>A	6	123591015	123591015	T	A	TRDN	c.1721-4A>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123591015T>A	(Likely) benign	1 lab	8dacc0e94f
7:128482673 FLNC C>T	7	128482673	128482673	C	T	FLNC	c.2310C>T	NM_001458.5	NP_001449.3:p.(Tyr770=)	NC_000007.13:g.128482673C>T	(Likely) benign	1 lab	8dafc0bd2e
16:88498965 ZNF469 C>T	16	88498965	88498965	C	T	ZNF469	c.5087C>T	NM_001367624.2	NP_001354553.1:p.(Pro1696Leu)	NC_000016.9:g.88498965C>T	(Likely) benign	1 lab	8db084a003
14:74973952 LTBP2 G>A	14	74973952	74973952	G	A	LTBP2	c.3837C>T	NM_000428.3	NP_000419.1:p.(Ser1279=)	NC_000014.8:g.74973952G>A	(Likely) benign	1 lab	8db28f9db3
2:179481966 TTN G>A	2	179481966	179481966	G	A	TTN	c.47761-5C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179481966G>A	(Likely) benign	1 lab	8db34ae21d
2:44078830 ABCG8 G>A	2	44078830	44078830	G	A	ABCG8	c.430G>A	NM_022437.3	NP_071882.1:p.(Val144Met)	NC_000002.11:g.44078830G>A	VUS	1 lab	8db532af4f
5:80074645 MSH3 G>A	5	80074645	80074645	G	A	MSH3	c.2425G>A	NM_002439.5	NP_002430.3:p.(Asp809Asn)	NC_000005.9:g.80074645G>A	VUS	1 lab	8db558aa8e
4:15989860 PROM1 T>C	4	15989860	15989860	T	C	PROM1	c.2077-521A>G	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.15989860T>C	(Likely) pathogenic	1 lab	8db6518b73
19:11216243 LDLR G>T	19	11216243	11216243	G	T	LDLR	c.661G>T	NM_000527.5	NP_000518.1:p.(Asp221Tyr)	NC_000019.9:g.11216243G>T	(Likely) pathogenic	1 lab	8db8139395
17:48745187 ABCC3 T>C	17	48745187	48745187	T	C	ABCC3	c.1704T>C	NM_001144070.2	NP_001137542.1:p.(His568=)	NC_000017.10:g.48745187T>C	(Likely) benign	1 lab	8dbaf32ea6
2:179469431 TTN T>C	2	179469431	179469431	T	C	TTN	c.54381+4A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179469431T>C	(Likely) benign	1 lab	8dbc661ff9
11:47358040 MYBPC3 CAAAAAAA>C	11	47358040	47358064	CAAAAAAA	C	MYBPC3	c.2603-485_2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358058_47358064del	(Likely) benign	1 lab	8dc500b01e
16:29620688 MISSING Ref too long to show for this DEL>A	16	29620688	30197341	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29620689_30197341del	(Likely) pathogenic	1 lab	8dd041a465
2:21231553 APOB A>G	2	21231553	21231553	A	G	APOB	c.8187T>C	NM_000384.3	NP_000375.3:p.(Asn2729=)	NC_000002.11:g.21231553A>G	(Likely) benign	1 lab	8dd9808bcb
2:25470490 DNMT3A G>GACCC	2	25470490	25470495	G	GACCC	DNMT3A	c.980_983dup	NM_022552.5	NP_072046.2:p.(Met329GlyfsTer15)	NC_000002.11:g.25470492_25470495dup	(Likely) pathogenic	1 lab	8dd9aadae5
16:87637893 JPH3 C>CCTGCTGCTG	16	87637893	87637935	C	CCTGCTGCTG	JPH3	c.464_472dup	NM_001271604.4	NP_001258533.1:p.(Ala155_Ala157dup)	NC_000016.9:g.87637927_87637935dup	(Likely) benign	1 lab	8dda567468
11:2683150 KCNQ1OT1 G>C	11	2683150	2683150	G	C	KCNQ1OT1	n.38079C>G	NR_002728.3		NC_000011.9:g.2683150G>C	(Likely) benign	1 lab	8ddc6cb313
16:67913012 EDC4 C>T	16	67913012	67913012	C	T	EDC4	c.1440C>T	NM_014329.5	NP_055144.3:p.(Ala480=)	NC_000016.9:g.67913012C>T	(Likely) benign	1 lab	8de223e2ff
15:52470182 MISSING Ref too long to show for this DEL>G	15	52470182	52508181	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.52470184_52508181del	VUS	1 lab	8de22dd539
5:16481185 RETREG1 A>G	5	16481185	16481185	A	G	RETREG1	c.603T>C	NM_001034850.3	NP_001030022.1:p.(Cys201=)	NC_000005.9:g.16481185A>G	(Likely) benign	1 lab	8de2810815
21:34924819 SON G>A	21	34924819	34924819	G	A	SON	c.3282G>A	NM_138927.4	NP_620305.3:p.(Ser1094=)	NC_000021.8:g.34924819G>A	(Likely) benign	1 lab	8de4082789
1:55523739 PCSK9 C>T	1	55523739	55523739	C	T	PCSK9	c.1211C>T	NM_174936.4	NP_777596.2:p.(Pro404Leu)	NC_000001.10:g.55523739C>T	VUS	1 lab	8de5703e1d
12:125267370 SCARB1 C>T	12	125267370	125267370	C	T	SCARB1	c.1651+3283G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125267370C>T	VUS	1 lab	8dec157c5e
3:119378988 POPDC2 G>A	3	119378988	119378988	G	A	POPDC2	c.283C>T	NM_001308333.2	NP_001295262.1:p.(Leu95=)	NC_000003.11:g.119378988G>A	(Likely) benign	1 lab	8deeca8ed5
16:30990542 SETD1A A>C	16	30990542	30990542	A	C	SETD1A	c.3435A>C	NM_014712.3	NP_055527.1:p.(Pro1145=)	NC_000016.9:g.30990542A>C	(Likely) benign	1 lab	8df13017b0
10:27688173 PTCHD3 TA>T	10	27688173	27688188	TA	T	PTCHD3	c.1358-5del	NM_001034842.4	NP_001030014.2:p.?	NC_000010.10:g.27688188del	(Likely) benign	1 lab	8df9cd0ecb
15:73883752 MISSING A>Alt too long to show for this DUP	15	73883752	73941798	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.73883753_73941798dup	VUS	1 lab	8dfb53d381
14:76200407 TTLL5 T>G	14	76200407	76200407	T	G	TTLL5	c.1186+14T>G	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76200407T>G	(Likely) benign	1 lab	8dfdc28b3b
9:139324861 INPP5E C>T	9	139324861	139324861	C	T	INPP5E	c.1670G>A	NM_019892.6	NP_063945.2:p.(Arg557His)	NC_000009.11:g.139324861C>T	VUS	1 lab	8dfe852b4d
19:18280032 PIK3R2 C>T	19	18280032	18280032	C	T	PIK3R2	c.2115C>T	NM_005027.4	NP_005018.2:p.(Asn705=)	NC_000019.9:g.18280032C>T	(Likely) benign	1 lab	8e06ac2661
2:175614792 CHRNA1 C>G	2	175614792	175614792	C	G	CHRNA1	c.959G>C	NM_001039523.3	NP_001034612.1:p.(Gly320Ala)	NC_000002.11:g.175614792C>G	VUS	1 lab	8e071b8c47
X:5882432 NLGN4X A>Alt too long to show for this DUP	X	5882432	5982596	A	Alt too long to show for this DUP	NLGN4X	c.473-35123_626-55153dup	NM_181332.3	NP_851849.1:p.?	NC_000023.10:g.5882433_5982596dup	VUS	1 lab	8e0811791b
15:45392065 DUOX2 C>T	15	45392065	45392065	C	T	DUOX2	c.3210G>A	NM_001363711.2	NP_001350640.1:p.(Ser1070=)	NC_000015.9:g.45392065C>T	VUS	1 lab	8e0c0033c8
19:11226775 LDLR T>G	19	11226775	11226775	T	G	LDLR	c.1592T>G	NM_000527.5	NP_000518.1:p.(Met531Arg)	NC_000019.9:g.11226775T>G	(Likely) pathogenic	1 lab	8e0d56ec3d
6:32041419 TNXB C>T	6	32041419	32041419	C	T	TNXB	c.4681+5G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32041419C>T	VUS	1 lab	8e11870eba
5:112176438 APC A>G	5	112176438	112176438	A	G	APC	c.5147A>G	NM_000038.6	NP_000029.2:p.(Asn1716Ser)	NC_000005.9:g.112176438A>G	(Likely) benign	1 lab	8e12a43a4d
12:59313208 LRIG3 G>T	12	59313208	59313208	G	T	LRIG3	c.56C>A	NM_001136051.3	NP_001129523.1:p.(Pro19Gln)	NC_000012.11:g.59313208G>T	(Likely) benign	1 lab	8e1a1a2430
X:24024240 KLHL15 T>C	X	24024240	24024240	T	C	KLHL15	c.571A>G	NM_030624.3	NP_085127.2:p.(Arg191Gly)	NC_000023.10:g.24024240T>C	VUS	1 lab	8e1e5b364a
5:156671437 ITK G>T	5	156671437	156671437	G	T	ITK	c.1398G>T	NM_005546.4	NP_005537.3:p.(Val466=)	NC_000005.9:g.156671437G>T	(Likely) benign	1 lab	8e24dd6be9
5:127625230 FBN2 G>A	5	127625230	127625230	G	A	FBN2	c.6512-286C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625230G>A	(Likely) benign	1 lab	8e252e605d
16:1570621 IFT140 C>T	16	1570621	1570621	C	T	IFT140	c.3642G>A	NM_014714.4	NP_055529.2:p.(Gln1214=)	NC_000016.9:g.1570621C>T	(Likely) benign	1 lab	8e29998bae
11:68700967 IGHMBP2 A>G	11	68700967	68700967	A	G	IGHMBP2	c.1418+18A>G	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68700967A>G	(Likely) benign	1 lab	8e2a21500f
11:77047258 PAK1 T>C	11	77047258	77047258	T	C	PAK1	c.1286A>G	NM_001376280.1	NP_001363209.1:p.(Tyr429Cys)	NC_000011.9:g.77047258T>C	(Likely) pathogenic	1 lab	8e2c47a8ff
16:88792939 PIEZO1 C>T	16	88792939	88792939	C	T	PIEZO1	c.3796+16G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88792939C>T	(Likely) benign	1 lab	8e37a150a6
3:3189128 TRNT1 C>T	3	3189128	3189128	C	T	TRNT1	c.803-6C>T	NM_182916.3	NP_886552.3:p.?	NC_000003.11:g.3189128C>T	(Likely) benign	1 lab	8e39811308
9:21333254 KLHL9 T>C	9	21333254	21333254	T	C	KLHL9	c.1605A>G	NM_018847.4	NP_061335.1:p.(Gln535=)	NC_000009.11:g.21333254T>C	(Likely) benign	1 lab	8e3f10525b
4:148633739 MISSING A>Alt too long to show for this DUP	4	148633739	148788109	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.148633740_148788109dup	VUS	1 lab	8e40d8ac1a
14:23892865 MYH7 T>C	14	23892865	23892865	T	C	MYH7	c.2990A>G	NM_000257.4	NP_000248.2:p.(Lys997Arg)	NC_000014.8:g.23892865T>C	VUS	1 lab	8e42116cea
3:10391795 ATP2B2 C>T	3	10391795	10391795	C	T	ATP2B2	c.2269+1G>A	NM_001683.5	NP_001674.2:p.?	NC_000003.11:g.10391795C>T	(Likely) pathogenic	1 lab	8e438f7306
18:77477515 CTDP1 C>T	18	77477515	77477515	C	T	CTDP1	c.2069-20C>T	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77477515C>T	(Likely) benign	1 lab	8e4ea671ef
X:64166586 MISSING Ref too long to show for this DEL>A	X	64166586	64361319	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.64166589_64361319del	(Likely) pathogenic	1 lab	8e579219ea
14:23857500 MYH6 G>A	14	23857500	23857500	G	A	MYH6	c.4223C>T	NM_002471.4	NP_002462.2:p.(Ala1408Val)	NC_000014.8:g.23857500G>A	VUS	1 lab	8e57f81da8
2:44066194 ABCG8 T>C	2	44066194	44066194	T	C	ABCG8				NC_000002.11:g.44066194T>C	VUS	1 lab	8e5964c9d0
7:94034040 COL1A2 T>C	7	94034040	94034040	T	C	COL1A2	c.360T>C	NM_000089.4	NP_000080.2:p.(Pro120=)	NC_000007.13:g.94034040T>C	(Likely) benign	1 lab	8e5b17ce70
X:147557291 MISSING Ref too long to show for this DEL>T	X	147557291	147643118	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.147557292_147643118del	(Likely) pathogenic	1 lab	8e5db9c9ed
4:73181637 ADAMTS3 G>T	4	73181637	73181637	G	T	ADAMTS3	c.1537C>A	NM_014243.3	NP_055058.2:p.(Pro513Thr)	NC_000004.11:g.73181637G>T	(Likely) benign	1 lab	8e6182b914
X:70444368 GJB1 G>T	X	70444368	70444368	G	T	GJB1	c.811G>T	NM_000166.6	NP_000157.1:p.(Ala271Ser)	NC_000023.10:g.70444368G>T	(Likely) pathogenic	1 lab	8e622eb54a
1:6528577 PLEKHG5 G>A	1	6528577	6528577	G	A	PLEKHG5	c.2319C>T	NM_198681.4	NP_941374.3:p.(Pro773=)	NC_000001.10:g.6528577G>A	(Likely) benign	1 lab	9222ce7f36
15:73616241 HCN4 G>A	15	73616241	73616241	G	A	HCN4	c.2193C>T	NM_005477.3	NP_005468.1:p.(Ser731=)	NC_000015.9:g.73616241G>A	(Likely) benign	1 lab	8e6adfe58b
2:21242645 APOB G>A	2	21242645	21242645	G	A	APOB	c.2949C>T	NM_000384.3	NP_000375.3:p.(Asn983=)	NC_000002.11:g.21242645G>A	(Likely) benign	1 lab	8e71c27a19
13:31897882 B3GLCT C>G	13	31897882	31897882	C	G	B3GLCT	c.1185-6C>G	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31897882C>G	(Likely) benign	1 lab	8e73726ade
15:94877375 MCTP2 Ref too long to show for this DEL>G	15	94877375	94885417	Ref too long to show for this DEL	G	MCTP2	c.638-5135_969+1264del	NM_001385001.1	NP_001371930.1:p.?	NC_000015.9:g.94877384_94885417del	VUS	1 lab	8e73c74841
15:58840674 LIPC G>A	15	58840674	58840674	G	A	LIPC	c.954G>A	NM_000236.3	NP_000227.2:p.(Lys318=)	NC_000015.9:g.58840674G>A	(Likely) benign	1 lab	8e74e193c5
2:21233165 APOB T>C	2	21233165	21233165	T	C	APOB	c.6575A>G	NM_000384.3	NP_000375.3:p.(His2192Arg)	NC_000002.11:g.21233165T>C	VUS	1 lab	8e7543aa9a
3:38618138 SCN5A G>T	3	38618138	38618138	G	T	SCN5A	c.3511+14C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38618138G>T	(Likely) benign	1 lab	8e772e0553
14:105181172 INF2 C>G	14	105181172	105181172	C	G	INF2	c.3673C>G	NM_022489.4	NP_071934.3:p.(Arg1225Gly)	NC_000014.8:g.105181172C>G	VUS	1 lab	8e77df1f6f
9:107571779 ABCA1 G>A	9	107571779	107571779	G	A	ABCA1	c.4242C>T	NM_005502.4	NP_005493.2:p.(Phe1414=)	NC_000009.11:g.107571779G>A	(Likely) benign	1 lab	8e7854e5c1
1:74727344 TNNI3K T>Alt too long to show for this DUP	1	74727344	74770621	T	Alt too long to show for this DUP	TNNI3K	c.334-9937_445-26513dup	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74727345_74770621dup	VUS	1 lab	8e78c397d3
5:59189060 PDE4D G>A	5	59189060	59189060	G	A	PDE4D	c.390C>T	NM_001104631.2	NP_001098101.1:p.(Thr130=)	NC_000005.9:g.59189060G>A	(Likely) benign	1 lab	8e7b424670
8:119319060 MISSING C>Alt too long to show for this DUP	8	119319060	119905266	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.119319061_119905266dup	VUS	1 lab	8e7de9db66
6:30997500 MUC22 A>AAGGCTCTGAGACCACCACAGCCTCCACTGC	6	30997500	30997588	A	AAGGCTCTGAGACCACCACAGCCTCCACTGC	MUC22	c.4351_4380dup	NM_001198815.1	NP_001185744.1:p.(Ala1451_Thr1460dup)	NC_000006.11:g.30997559_30997588dup	(Likely) benign	1 lab	8e8188b0cb
12:125299596 SCARB1 G>A	12	125299596	125299596	G	A	SCARB1	c.349C>T	NM_001367981.1	NP_001354910.1:p.(Arg117Cys)	NC_000012.11:g.125299596G>A	VUS	1 lab	8e88523096
16:1003928 LMF1 TTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCC>T	16	1003928	1004045	TTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCC	T	LMF1	c.-52+357_-52+428del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003974_1004045del	(Likely) benign	1 lab	8e8a7be8df
6:56566781 DST C>A	6	56566781	56566781	C	A	DST	c.778-18G>T	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56566781C>A	(Likely) benign	1 lab	8e8c786ad8
19:616002 HCN2 C>T	19	616002	616002	C	T	HCN2	c.2198C>T	NM_001194.4	NP_001185.3:p.(Ala733Val)	NC_000019.9:g.616002C>T	VUS	1 lab	8e8d6231c4
15:58840785 LIPC T>A	15	58840785	58840785	T	A	LIPC	c.1051+14T>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840785T>A	(Likely) benign	1 lab	8e8e03b349
13:28325513 MISSING A>Alt too long to show for this DUP	13	28325513	29262496	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.28325515_29262496dup	VUS	1 lab	8e8e512a7f
15:28389284 HERC2 G>A	15	28389284	28389284	G	A	HERC2	c.11238C>T	NM_004667.6	NP_004658.3:p.(Asn3746=)	NC_000015.9:g.28389284G>A	(Likely) benign	1 lab	8e8f83467b
3:101370529 ZBTB11 TAA>T	3	101370529	101370547	TAA	T	ZBTB11	c.2645-4_2645-3del	NM_014415.4	NP_055230.2:p.?	NC_000003.11:g.101370546_101370547del	(Likely) benign	1 lab	8ea31e8cd6
4:185340725 IRF2 GA>G	4	185340725	185340745	GA	G	IRF2	c.88-4del	NM_002199.4	NP_002190.2:p.?	NC_000004.11:g.185340745del	(Likely) benign	1 lab	8eaf433501
1:55525195 PCSK9 G>C	1	55525195	55525195	G	C	PCSK9	c.1540G>C	NM_174936.4	NP_777596.2:p.(Ala514Pro)	NC_000001.10:g.55525195G>C	VUS	1 lab	8eb2f91c77
5:121413650 LOX C>G	5	121413650	121413650	C	G	LOX	c.31G>C	NM_002317.7	NP_002308.2:p.(Gly11Arg)	NC_000005.9:g.121413650C>G	VUS	1 lab	8ebeb246e3
2:27601169 ZNF513 C>T	2	27601169	27601169	C	T	ZNF513	c.869G>A	NM_144631.6	NP_653232.3:p.(Gly290Glu)	NC_000002.11:g.27601169C>T	VUS	1 lab	8ec05bbb81
12:218901 MISSING A>Alt too long to show for this DUP	12	218901	554215	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.218902_554215dup	(Likely) pathogenic	1 lab	8ece357aec
9:107558320 ABCA1 T>G	9	107558320	107558320	T	G	ABCA1	c.5382+14A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558320T>G	(Likely) benign	1 lab	8ece89222d
2:179637931 TTN T>C	2	179637931	179637931	T	C	TTN	c.7760A>G	NM_001267550.2	NP_001254479.2:p.(Tyr2587Cys)	NC_000002.11:g.179637931T>C	VUS	1 lab	8ed764ba55
17:2233880 TSR1 C>T	17	2233880	2233880	C	T	TSR1	c.1699G>A	NM_018128.5	NP_060598.3:p.(Val567Ile)	NC_000017.10:g.2233880C>T	(Likely) benign	1 lab	8eda1170f1
20:10631948 JAG1 T>C	20	10631948	10631948	T	C	JAG1	c.1120+281A>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10631948T>C	(Likely) benign	1 lab	8ee6a88b51
16:57931353 CNGB1 C>T	16	57931353	57931353	C	T	CNGB1	c.3190G>A	NM_001297.5	NP_001288.3:p.(Glu1064Lys)	NC_000016.9:g.57931353C>T	VUS	1 lab	8ee957c9c4
10:121436014 BAG3 G>A	10	121436014	121436014	G	A	BAG3	c.948G>A	NM_004281.4	NP_004272.2:p.(Gln316=)	NC_000010.10:g.121436014G>A	(Likely) benign	1 lab	8eec2da971
15:58856199 LIPC G>T	15	58856199	58856199	G	T	LIPC	c.1388+277G>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856199G>T	(Likely) benign	1 lab	9223bb83ad
2:5832899 SOX11 CG>C	2	5832899	5832902	CG	C	SOX11	c.49del	NM_003108.4	NP_003099.1:p.(Glu17ArgfsTer37)	NC_000002.11:g.5832902del	VUS	1 lab	8eef0348d3
14:88892737 SPATA7 C>G	14	88892737	88892737	C	G	SPATA7	c.534C>G	NM_018418.5	NP_060888.2:p.(Ser178=)	NC_000014.8:g.88892737C>G	(Likely) benign	1 lab	8ef031fa47
1:237890380 RYR2 A>G	1	237890380	237890380	A	G	RYR2	c.10726-7A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237890380A>G	(Likely) benign	1 lab	8ef0b80a9c
13:32913258 BRCA2 C>A	13	32913258	32913258	C	A	BRCA2	c.4766C>A	NM_000059.4	NP_000050.3:p.(Pro1589Gln)	NC_000013.10:g.32913258C>A	(Likely) benign	1 lab	8ef2047a23
17:61497799 TANC2 T>C	17	61497799	61497799	T	C	TANC2	c.4456T>C	NM_025185.4	NP_079461.2:p.(Ser1486Pro)	NC_000017.10:g.61497799T>C	VUS	1 lab	8ef4bb9814
3:63898360 ATXN7 G>GGCA	3	63898360	63898392	G	GGCA	ATXN7	c.116_118dup	NM_000333.4	NP_000324.1:p.(Gln39dup)	NC_000003.11:g.63898390_63898392dup	(Likely) benign	1 lab	8ef6fa7fd2
3:63981283 ATXN7 A>G	3	63981283	63981283	A	G	ATXN7	c.1785A>G	NM_000333.4	NP_000324.1:p.(Ala595=)	NC_000003.11:g.63981283A>G	(Likely) benign	1 lab	8ef6fcc713
1:12907518 HNRNPCL1 T>A	1	12907518	12907518	T	A	HNRNPCL1	c.625A>T	NM_001013631.3	NP_001013653.1:p.(Ser209Cys)	NC_000001.10:g.12907518T>A	(Likely) benign	1 lab	8ef71e2474
2:179647079 TTN G>A	2	179647079	179647079	G	A	TTN	c.3240C>T	NM_133378.4	NP_596869.4:p.(Ala1080=)	NC_000002.11:g.179647079G>A	(Likely) benign	1 lab	8efb02a0fb
5:180040051 FLT4 C>G	5	180040051	180040051	C	G	FLT4	c.3391G>C	NM_182925.5	NP_891555.2:p.(Gly1131Arg)	NC_000005.9:g.180040051C>G	(Likely) pathogenic	1 lab	8effef438f
11:117261533 CEP164 G>A	11	117261533	117261533	G	A	CEP164	c.1975G>A	NM_014956.5	NP_055771.4:p.(Glu659Lys)	NC_000011.9:g.117261533G>A	(Likely) benign	1 lab	8f01569402
5:126676306 MEGF10 C>T	5	126676306	126676306	C	T	MEGF10	c.303C>T	NM_032446.3	NP_115822.1:p.(Ser101=)	NC_000005.9:g.126676306C>T	(Likely) benign	1 lab	8f017fc2c3
14:23862142 MYH6 T>A	14	23862142	23862142	T	A	MYH6	c.3230A>T	NM_002471.4	NP_002462.2:p.(Gln1077Leu)	NC_000014.8:g.23862142T>A	(Likely) benign	1 lab	8f0f24fcb4
16:57005948 CETP A>T	16	57005948	57005948	A	T	CETP	c.703A>T	NM_000078.3	NP_000069.2:p.(Thr235Ser)	NC_000016.9:g.57005948A>T	VUS	1 lab	8f18b639e5
16:46766163 MYLK3 T>C	16	46766163	46766163	T	C	MYLK3	c.1419A>G	NM_182493.3	NP_872299.2:p.(Val473=)	NC_000016.9:g.46766163T>C	(Likely) benign	1 lab	8f1e3e2b07
18:47095833 LIPG T>A	18	47095833	47095833	T	A	LIPG	c.486T>A	NM_006033.4	NP_006024.1:p.(Asn162Lys)	NC_000018.9:g.47095833T>A	VUS	1 lab	8f1f5ffaa8
3:38604237 SCN5A G>A	3	38604237	38604237	G	A	SCN5A	c.3838-209C>T	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38604237G>A	(Likely) benign	1 lab	8f23f5d771
12:109999674 MMAB A>G	12	109999674	109999674	A	G	MMAB	c.349-17T>C	NM_052845.4	NP_443077.1:p.?	NC_000012.11:g.109999674A>G	(Likely) benign	1 lab	8f28358c5d
9:107624384 ABCA1 CT>C	9	107624384	107624397	CT	C	ABCA1	c.422-304del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624397del	(Likely) benign	1 lab	8f2979c8c5
5:36521961 MISSING C>Alt too long to show for this DUP	5	36521961	36713437	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.36521963_36713437dup	VUS	1 lab	8f2b4d2a89
6:32557503 HLA-DRB1 A>G	6	32557503	32557503	A	G	HLA-DRB1	c.17T>C	NM_002124.4	NP_002115.2:p.(Leu6Pro)	NC_000006.11:g.32557503A>G	(Likely) benign	1 lab	8f2be2bd69
2:179511259 TTN G>A	2	179511259	179511259	G	A	TTN	c.40250C>T	NM_001267550.2	NP_001254479.2:p.(Pro13417Leu)	NC_000002.11:g.179511259G>A	(Likely) benign	1 lab	8f2f33e3df
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	c.2787+28_2787+29insACACACACACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	(Likely) benign	1 lab	8f2f627fc1
11:66294249 BBS1 A>T	11	66294249	66294249	A	T	BBS1	c.1310A>T	NM_024649.5	NP_078925.3:p.(Gln437Leu)	NC_000011.9:g.66294249A>T	(Likely) benign	1 lab	8f3c058ef0
6:80837252 BCKDHB TG>T	6	80837252	80837253	TG	T	BCKDHB	c.197-11del	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80837253del	(Likely) benign	1 lab	8f3ef574fb
1:94549602 ABCA4 A>G	1	94549602	94549602	A	G	ABCA4	c.769-605T>C	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94549602A>G	(Likely) benign	1 lab	8f3fee5943
14:100808726 WARS1 A>G	14	100808726	100808726	A	G	WARS1	c.1113+9T>C	NM_004184.4	NP_004175.2:p.?	NC_000014.8:g.100808726A>G	(Likely) benign	1 lab	8f4329ebe5
6:84765173 MRAP2 T>TA	6	84765173	84765174	T	TA	MRAP2	c.127+10dup	NM_001346542.2	NP_001333471.1:p.?	NC_000006.11:g.84765174dup	(Likely) benign	1 lab	8f4d1b1110
1:239339556 MISSING C>Alt too long to show for this DUP	1	239339556	239564706	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.239339559_239564706dup	VUS	1 lab	8f59a1d204
12:32777889 FGD4 T>G	12	32777889	32777889	T	G	FGD4	c.511-21T>G	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32777889T>G	(Likely) benign	1 lab	8f5bfee901
2:179398822 TTN C>T	2	179398822	179398822	C	T	TTN	c.94816G>A	NM_133378.4	NP_596869.4:p.(Val31606Ile)	NC_000002.11:g.179398822C>T	VUS	1 lab	8f5dfef860
1:8421517 RERE C>T	1	8421517	8421517	C	T	RERE	c.2050G>A	NM_012102.4	NP_036234.3:p.(Glu684Lys)	NC_000001.10:g.8421517C>T	VUS	1 lab	8f61f0c6bc
11:65321458 LTBP3 C>G	11	65321458	65321458	C	G	LTBP3	c.661+64G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65321458C>G	(Likely) benign	1 lab	8f6660e8d9
1:45269627 MISSING Ref too long to show for this DEL>C	1	45269627	45365979	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.45269628_45365979del	(Likely) pathogenic	1 lab	8f6b64ddad
2:21233751 APOB C>T	2	21233751	21233751	C	T	APOB	c.5989G>A	NM_000384.3	NP_000375.3:p.(Asp1997Asn)	NC_000002.11:g.21233751C>T	VUS	1 lab	8f74eb96df
16:49670447 ZNF423 A>G	16	49670447	49670447	A	G	ZNF423	c.2436T>C	NM_001271620.2	NP_001258549.1:p.(His812=)	NC_000016.9:g.49670447A>G	VUS	1 lab	8fb7ddefdd
18:19399472 MIB1 C>A	18	19399472	19399472	C	A	MIB1	c.1694C>A	NM_020774.4	NP_065825.1:p.(Thr565Asn)	NC_000018.9:g.19399472C>A	VUS	1 lab	8f7ec353d3
1:55518370 PCSK9 C>T	1	55518370	55518370	C	T	PCSK9	c.705C>T	NM_174936.4	NP_777596.2:p.(Ser235=)	NC_000001.10:g.55518370C>T	(Likely) benign	1 lab	8f8719e8e0
2:219674327 CYP27A1 A>G	2	219674327	219674327	A	G	CYP27A1	c.283A>G	NM_000784.4	NP_000775.1:p.(Met95Val)	NC_000002.11:g.219674327A>G	VUS	1 lab	8f89f5c665
X:114871165 PLS3 C>T	X	114871165	114871165	C	T	PLS3	c.766C>T	NM_005032.7	NP_005023.2:p.(Arg256Ter)	NC_000023.10:g.114871165C>T	(Likely) pathogenic	1 lab	8f8be674ea
2:179604472 TTN C>A	2	179604472	179604472	C	A	TTN	c.13488G>T	NM_001267550.2	NP_001254479.2:p.(Gln4496His)	NC_000002.11:g.179604472C>A	VUS	1 lab	8f94ccf776
2:73827884 ALMS1 G>A	2	73827884	73827884	G	A	ALMS1	c.11751G>A	NM_015120.4	NP_055935.4:p.(Glu3917=)	NC_000002.11:g.73827884G>A	(Likely) benign	1 lab	8f96a856db
6:80937993 BCKDHB Ref too long to show for this DEL>T	6	80937993	81016136	Ref too long to show for this DEL	T	BCKDHB	c.951+25067_1038+33198del	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80937996_81016136del	VUS	1 lab	8f97cb4318
2:219678772 CYP27A1 A>G	2	219678772	219678772	A	G	CYP27A1	c.1046A>G	NM_000784.4	NP_000775.1:p.(Tyr349Cys)	NC_000002.11:g.219678772A>G	VUS	1 lab	8f993c377f
14:50605507 SOS2 TA>T	14	50605507	50605520	TA	T	SOS2	c.2786-6del	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50605520del	(Likely) benign	1 lab	8f9b4342cf
1:78383976 NEXN G>A	1	78383976	78383976	G	A	NEXN	c.447+18G>A	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78383976G>A	(Likely) benign	1 lab	8f9f0f5686
17:66364740 ARSG G>A	17	66364740	66364740	G	A	ARSG	c.753G>A	NM_001352903.2	NP_001339832.1:p.(Val251=)	NC_000017.10:g.66364740G>A	(Likely) benign	1 lab	8f9ffc07c0
19:36211815 KMT2B G>C	19	36211815	36211815	G	C	KMT2B	c.1566G>C	NM_014727.3	NP_055542.1:p.(Lys522Asn)	NC_000019.9:g.36211815G>C	VUS	1 lab	8fae12dd6a
X:73744222 SLC16A2 G>A	X	73744222	73744222	G	A	SLC16A2	c.604G>A	NM_006517.5	NP_006508.2:p.(Gly202Arg)	NC_000023.10:g.73744222G>A	(Likely) pathogenic	1 lab	8fc33c96d6
16:57007339 CETP TC>T	16	57007339	57007340	TC	T	CETP	c.848del	NM_000078.3	NP_000069.2:p.(Ser283LeufsTer11)	NC_000016.9:g.57007340del	(Likely) pathogenic	1 lab	8fc5ee4068
17:63221624 RGS9 G>A	17	63221624	63221624	G	A	RGS9	c.1892+20G>A	NM_003835.4	NP_003826.2:p.?	NC_000017.10:g.63221624G>A	(Likely) benign	1 lab	8fc7e88c53
17:56811480 MISSING Ref too long to show for this DEL>C	17	56811480	56896140	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.56811482_56896140del	VUS	1 lab	8fcb24dc91
20:22563753 FOXA2 T>C	20	22563753	22563753	T	C	FOXA2	c.109A>G	NM_153675.3	NP_710141.1:p.(Met37Val)	NC_000020.10:g.22563753T>C	VUS	1 lab	8fccaf076a
14:57942425 CCDC198 TA>T	14	57942425	57942441	TA	T	CCDC198	c.653-4del	NM_001283056.2	NP_001269985.1:p.?	NC_000014.8:g.57942441del	(Likely) benign	1 lab	8fccc4f912
9:4740391 MISSING Ref too long to show for this DEL>A	9	4740391	4849595	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.4740392_4849595del	VUS	1 lab	8fcd7632f4
2:21231466 APOB T>C	2	21231466	21231466	T	C	APOB	c.8274A>G	NM_000384.3	NP_000375.3:p.(Leu2758=)	NC_000002.11:g.21231466T>C	(Likely) benign	1 lab	8fcd974c12
5:13868030 DNAH5 CA>C	5	13868030	13868031	CA	C	DNAH5	c.3905del	NM_001369.3	NP_001360.1:p.(Leu1302ArgfsTer19)	NC_000005.9:g.13868031del	(Likely) pathogenic	1 lab	8fcfeba001
1:170508577 GORAB T>C	1	170508577	170508577	T	C	GORAB	c.288T>C	NM_152281.3	NP_689494.3:p.(Gly96=)	NC_000001.10:g.170508577T>C	(Likely) benign	1 lab	8fd19764f4
1:236910920 ACTN2 C>G	1	236910920	236910920	C	G	ACTN2	c.1407-47C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236910920C>G	(Likely) benign	1 lab	8fd47d3603
1:62898434 MISSING Ref too long to show for this DEL>G	1	62898434	63184158	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.62898436_63184158del	VUS	1 lab	8fdcc55c56
1:117156631 IGSF3 G>A	1	117156631	117156631	G	A	IGSF3	c.588C>T	NM_001007237.3	NP_001007238.1:p.(Ile196=)	NC_000001.10:g.117156631G>A	(Likely) benign	1 lab	8fe7b3bf2d
16:88495315 ZNF469 T>C	16	88495315	88495315	T	C	ZNF469	c.1437T>C	NM_001367624.2	NP_001354553.1:p.(Ser479=)	NC_000016.9:g.88495315T>C	(Likely) benign	1 lab	8feb2ddeff
2:97474484 CNNM4 G>A	2	97474484	97474484	G	A	CNNM4	c.2130+5G>A	NM_020184.4	NP_064569.3:p.?	NC_000002.11:g.97474484G>A	(Likely) benign	1 lab	8fefce7752
16:929883 LMF1 C>T	16	929883	929883	C	T	LMF1	c.730-146G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929883C>T	VUS	1 lab	8ffb47872d
11:10777320 CTR9 A>G	11	10777320	10777320	A	G	CTR9	c.480A>G	NM_014633.5	NP_055448.1:p.(Pro160=)	NC_000011.9:g.10777320A>G	(Likely) benign	1 lab	8ffcba7bff
16:88799737 PIEZO1 C>T	16	88799737	88799737	C	T	PIEZO1	c.2613G>A	NM_001142864.4	NP_001136336.2:p.(Leu871=)	NC_000016.9:g.88799737C>T	(Likely) benign	1 lab	8ffffe5607
2:152512409 NEB C>T	2	152512409	152512409	C	T	NEB	c.6624G>A	NM_001271208.2	NP_001258137.2:p.(Pro2208=)	NC_000002.11:g.152512409C>T	(Likely) benign	1 lab	9000cd71a1
2:15427217 NBAS C>T	2	15427217	15427217	C	T	NBAS	c.5118G>A	NM_015909.4	NP_056993.2:p.(Glu1706=)	NC_000002.11:g.15427217C>T	(Likely) benign	1 lab	90029956b0
12:21353615 SLCO1B1 T>G	12	21353615	21353615	T	G	SLCO1B1	c.1135+9T>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21353615T>G	(Likely) benign	1 lab	9002b021d9
8:62496545 ASPH A>G	8	62496545	62496545	A	G	ASPH	c.1020T>C	NM_004318.4	NP_004309.2:p.(Thr340=)	NC_000008.10:g.62496545A>G	(Likely) benign	1 lab	9011a23d29
22:37936727 MISSING Ref too long to show for this DEL>C	22	37936727	37970683	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.37936728_37970683del	VUS	1 lab	90123e0cc2
16:77325147 ADAMTS18 A>G	16	77325147	77325147	A	G	ADAMTS18	c.3402+16T>C	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77325147A>G	(Likely) benign	1 lab	9012b47cdf
10:18429687 CACNB2 A>T	10	18429687	18429687	A	T	CACNB2	c.22A>T	NM_201596.3	NP_963890.2:p.(Lys8Ter)	NC_000010.10:g.18429687A>T	VUS	1 lab	901cf2726f
4:172607977 MISSING Ref too long to show for this DEL>A	4	172607977	173399766	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.172607980_173399766del	VUS	1 lab	902139f97c
X:69669332 DLG3 G>A	X	69669332	69669332	G	A	DLG3	c.532G>A	NM_021120.4	NP_066943.2:p.(Gly178Arg)	NC_000023.10:g.69669332G>A	VUS	1 lab	90226bd1d5
15:89437292 MISSING Ref too long to show for this DEL>C	15	89437292	89455701	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.89437293_89455701del	VUS	1 lab	90229e75b7
7:75610877 POR G>A	7	75610877	75610877	G	A	POR	c.684G>A	NM_000941.3	NP_000932.3:p.(Pro228=)	NC_000007.13:g.75610877G>A	(Likely) benign	1 lab	90249fb584
2:179401164 TTN T>C	2	179401164	179401164	T	C	TTN	c.100310A>G	NM_001267550.2	NP_001254479.2:p.(Asn33437Ser)	NC_000002.11:g.179401164T>C	VUS	1 lab	9028c4d4e4
7:91603181 AKAP9 A>G	7	91603181	91603181	A	G	AKAP9	c.205A>G	NM_005751.5	NP_005742.4:p.(Ser69Gly)	NC_000007.13:g.91603181A>G	VUS	1 lab	902c403f8b
17:79495999 FSCN2 C>T	17	79495999	79495999	C	T	FSCN2	c.442C>T	NM_001077182.3	NP_001070650.1:p.(Arg148Trp)	NC_000017.10:g.79495999C>T	(Likely) benign	1 lab	902ca2a2f9
2:44055387 ABCG5 C>T	2	44055387	44055387	C	T	ABCG5	c.502-133G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44055387C>T	(Likely) benign	1 lab	90328397b2
18:47116543 LIPG TTG>T	18	47116543	47116578	TTG	T	LIPG	c.1482-294_1482-293del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116577_47116578del	(Likely) benign	1 lab	9033280fe7
16:87814213 MISSING Ref too long to show for this DEL>A	16	87814213	87858940	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.87814215_87858940del	VUS	1 lab	90375a6dc1
16:71807123 AP1G1 C>A	16	71807123	71807123	C	A	AP1G1	c.468+1G>T	NM_001030007.2	NP_001025178.1:p.?	NC_000016.9:g.71807123C>A	(Likely) pathogenic	1 lab	90393c1838
6:32552146 HLA-DRB1 AG>A	6	32552146	32552148	AG	A	HLA-DRB1	c.109del	NM_002124.4	NP_002115.2:p.(Leu37CysfsTer43)	NC_000006.11:g.32552148del	(Likely) benign	1 lab	903a091524
10:90697998 ACTA2 C>A	10	90697998	90697998	C	A	ACTA2	c.810G>T	NM_001141945.2	NP_001135417.1:p.(Gly270=)	NC_000010.10:g.90697998C>A	(Likely) pathogenic	1 lab	903dce06bf
2:202633602 ALS2 A>G	2	202633602	202633602	A	G	ALS2	c.7T>C	NM_020919.4	NP_065970.2:p.(Ser3Pro)	NC_000002.11:g.202633602A>G	(Likely) benign	1 lab	9041bc6c4e
5:178413298 GRM6 G>A	5	178413298	178413298	G	A	GRM6	c.1957C>T	NM_000843.4	NP_000834.2:p.(Arg653Cys)	NC_000005.9:g.178413298G>A	VUS	1 lab	9041fabf49
13:35624416 NBEA A>G	13	35624416	35624416	A	G	NBEA	c.856A>G	NM_015678.5	NP_056493.3:p.(Ser286Gly)	NC_000013.10:g.35624416A>G	VUS	1 lab	9044a69312
11:116701328 APOC3 CCTCCTGGCG>C	11	116701328	116701345	CCTCCTGGCG	C	APOC3	c.39_47del	NM_000040.3	NP_000031.1:p.(Leu14_Ala16del)	NC_000011.9:g.116701337_116701345del	VUS	1 lab	9047c379c3
3:186572149 ADIPOQ C>A	3	186572149	186572149	C	A	ADIPOQ	c.391C>A	NM_001177800.2	NP_001171271.1:p.(Arg131Ser)	NC_000003.11:g.186572149C>A	VUS	1 lab	904be89450
12:133216679 MISSING T>Alt too long to show for this DUP	12	133216679	133299335	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.133216681_133299335dup	VUS	1 lab	904f8d208b
9:107595036 ABCA1 C>T	9	107595036	107595036	C	T	ABCA1	c.1328G>A	NM_005502.4	NP_005493.2:p.(Arg443Lys)	NC_000009.11:g.107595036C>T	VUS	1 lab	905171b704
9:3828407 GLIS3 C>T	9	3828407	3828407	C	T	GLIS3	c.2658G>A	NM_001042413.2	NP_001035878.1:p.(Val886=)	NC_000009.11:g.3828407C>T	(Likely) benign	1 lab	9053960145
1:66058204 LEPR G>GT	1	66058204	66058215	G	GT	LEPR	c.495-125dup	NM_001003679.3	NP_001003679.1:p.?	NC_000001.10:g.66058215dup	(Likely) benign	1 lab	9053ec91f5
17:26875066 UNC119 G>A	17	26875066	26875066	G	A	UNC119	c.388C>T	NM_054035.2	NP_473376.1:p.(Arg130Cys)	NC_000017.10:g.26875066G>A	VUS	1 lab	90558febad
16:67974321 LCAT G>A	16	67974321	67974321	G	A	LCAT	c.809C>T	NM_000229.2	NP_000220.1:p.(Thr270Ile)	NC_000016.9:g.67974321G>A	VUS	1 lab	9057640345
1:12056231 MFN2 C>T	1	12056231	12056231	C	T	MFN2	c.330C>T	NM_014874.4	NP_055689.1:p.(Ser110=)	NC_000001.10:g.12056231C>T	(Likely) benign	1 lab	905da94b4a
11:68153968 LRP5 G>A	11	68153968	68153968	G	A	LRP5	c.1200G>A	NM_002335.4	NP_002326.2:p.(Ala400=)	NC_000011.9:g.68153968G>A	(Likely) benign	1 lab	905f4cf15d
9:107602769 ABCA1 C>T	9	107602769	107602769	C	T	ABCA1	c.845G>A	NM_005502.4	NP_005493.2:p.(Arg282Gln)	NC_000009.11:g.107602769C>T	VUS	1 lab	9061b85adb
7:1882959 MAD1L1 Ref too long to show for this DEL>A	7	1882959	2174829	Ref too long to show for this DEL	A	MAD1L1	c.1073+13958_1999-27096del	NM_001013836.2	NP_001013858.1:p.?	NC_000007.13:g.1882960_2174829del	VUS	1 lab	9066606109
11:18313310 HPS5 A>G	11	18313310	18313310	A	G	HPS5	c.2119T>C	NM_181507.2	NP_852608.1:p.(Cys707Arg)	NC_000011.9:g.18313310A>G	VUS	1 lab	90687e59af
18:47091867 LIPG C>T	18	47091867	47091867	C	T	LIPG	c.278C>T	NM_006033.4	NP_006024.1:p.(Thr93Met)	NC_000018.9:g.47091867C>T	VUS	1 lab	906fbe96d0
15:48805482 FBN1 A>G	15	48805482	48805482	A	G	FBN1	c.1588+264T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48805482A>G	(Likely) benign	1 lab	907099eaa2
9:107582204 ABCA1 G>A	9	107582204	107582204	G	A	ABCA1	c.3103+4C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582204G>A	(Likely) benign	1 lab	907287b332
1:63063313 ANGPTL3 T>C	1	63063313	63063313	T	C	ANGPTL3	c.76T>C	NM_014495.4	NP_055310.1:p.(Phe26Leu)	NC_000001.10:g.63063313T>C	VUS	1 lab	907d04a970
15:48905281 FBN1 A>T	15	48905281	48905281	A	T	FBN1	c.173T>A	NM_000138.5	NP_000129.3:p.(Val58Asp)	NC_000015.9:g.48905281A>T	VUS	1 lab	907d72d58f
15:58724519 LIPC G>A	15	58724519	58724519	G	A	LIPC	c.88+200G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724519G>A	VUS	1 lab	90800eb6bf
2:179437889 TTN GTTTA>G	2	179437889	179437893	GTTTA	G	TTN	c.72966_72969del	NM_001267550.2	NP_001254479.2:p.(Lys24323LeufsTer79)	NC_000002.11:g.179437890_179437893del	(Likely) benign	1 lab	9080300e62
1:241682875 FH G>T	1	241682875	241682875	G	T	FH	c.132+16C>A	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241682875G>T	(Likely) benign	1 lab	9083525fe0
8:103848551 AZIN1 T>TA	8	103848551	103848552	T	TA	AZIN1	c.15dup	NM_001363014.1	NP_001349943.1:p.(Thr6TyrfsTer6)	NC_000008.10:g.103848552dup	VUS	1 lab	908c0a0944
22:30070871 NF2 G>A	22	30070871	30070871	G	A	NF2	c.1387G>A	NM_000268.4	NP_000259.1:p.(Glu463Lys)	NC_000022.10:g.30070871G>A	(Likely) benign	1 lab	908e101a3f
5:140062782 HARS1 C>T	5	140062782	140062782	C	T	HARS1	c.203G>A	NM_001258041.3	NP_001244970.1:p.(Arg68Gln)	NC_000005.9:g.140062782C>T	VUS	1 lab	908e9c5b1e
2:95751079 MISSING A>Alt too long to show for this DUP	2	95751079	96071493	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.95751082_96071493dup	VUS	1 lab	9090b64af7
7:103197618 RELN A>G	7	103197618	103197618	A	G	RELN	c.5615-12T>C	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103197618A>G	(Likely) benign	1 lab	909362e5ce
10:55582205 PCDH15 CAGGAGG>C	10	55582205	55582216	CAGGAGG	C	PCDH15	c.5296_5301del	NM_001142763.2	NP_001136235.1:p.(Pro1766_Pro1767del)	NC_000010.10:g.55582211_55582216del	(Likely) benign	1 lab	9094d8fba5
11:17546025 USH1C G>A	11	17546025	17546025	G	A	USH1C	c.732C>T	NM_153676.4	NP_710142.1:p.(Gly244=)	NC_000011.9:g.17546025G>A	(Likely) benign	1 lab	9095185706
19:42482193 ATP1A3 G>A	19	42482193	42482193	G	A	ATP1A3	c.1838C>T	NM_152296.5	NP_689509.1:p.(Thr613Met)	NC_000019.9:g.42482193G>A	(Likely) pathogenic	1 lab	9095f5d7d3
3:69037633 EOGT G>C	3	69037633	69037633	G	C	EOGT	c.996+24C>G	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69037633G>C	(Likely) benign	1 lab	909c347675
11:116706562 APOA1 C>T	11	116706562	116706562	C	T	APOA1	c.439G>A	NM_001318021.1	NP_001304950.1:p.(Ala147Thr)	NC_000011.9:g.116706562C>T	VUS	1 lab	909ffa4119
10:112571752 RBM20 G>A	10	112571752	112571752	G	A	RBM20	c.1881-284G>A	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112571752G>A	(Likely) benign	1 lab	90a35726dc
16:85105391 KIAA0513 A>G	16	85105391	85105391	A	G	KIAA0513	c.332A>G	NM_001286565.1	NP_001273494.1:p.(Glu111Gly)	NC_000016.9:g.85105391A>G	(Likely) benign	1 lab	90a6ae8f0a
3:53839067 CACNA1D C>T	3	53839067	53839067	C	T	CACNA1D	c.5703C>T	NM_000720.4	NP_000711.1:p.(Pro1901=)	NC_000003.11:g.53839067C>T	(Likely) benign	1 lab	90aa795716
2:179414750 TTN A>C	2	179414750	179414750	A	C	TTN	c.91815T>G	NM_001267550.2	NP_001254479.2:p.(Ser30605=)	NC_000002.11:g.179414750A>C	(Likely) benign	1 lab	90b3738cb2
1:63063470 ANGPTL3 T>G	1	63063470	63063470	T	G	ANGPTL3	c.233T>G	NM_014495.4	NP_055310.1:p.(Phe78Cys)	NC_000001.10:g.63063470T>G	VUS	1 lab	90bc2150d4
2:219677525 CYP27A1 C>A	2	219677525	219677525	C	A	CYP27A1	c.844+53C>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677525C>A	VUS	1 lab	90bcf2e5a6
17:48264274 COL1A1 CG>C	17	48264274	48264280	CG	C	COL1A1	c.3540del	NM_000088.4	NP_000079.2:p.(Gly1181AlafsTer58)	NC_000017.10:g.48264280del	(Likely) pathogenic	1 lab	90be48f571
3:100463669 TFG G>T	3	100463669	100463669	G	T	TFG	c.722-8G>T	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100463669G>T	(Likely) benign	1 lab	90c4ac5279
8:59410891 CYP7A1 C>A	8	59410891	59410891	C	A	CYP7A1	c.218G>T	NM_000780.4	NP_000771.2:p.(Gly73Val)	NC_000008.10:g.59410891C>A	VUS	1 lab	90d6261d44
6:152655322 SYNE1 C>T	6	152655322	152655322	C	T	SYNE1	c.12615G>A	NM_182961.4	NP_892006.3:p.(Ser4205=)	NC_000006.11:g.152655322C>T	(Likely) benign	1 lab	90d8df3fb1
4:55976939 KDR G>GA	4	55976939	55976941	G	GA	KDR	c.977-5dup	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976941dup	(Likely) benign	1 lab	90d9e390be
11:75509414 DGAT2 G>A	11	75509414	75509414	G	A	DGAT2	c.952G>A	NM_032564.5	NP_115953.2:p.(Gly318Ser)	NC_000011.9:g.75509414G>A	(Likely) benign	1 lab	90e045477c
6:75875434 COL12A1 A>G	6	75875434	75875434	A	G	COL12A1	c.2772T>C	NM_004370.6	NP_004361.3:p.(Tyr924=)	NC_000006.11:g.75875434A>G	(Likely) benign	1 lab	90e426b52b
1:33476436 AK2 T>TTTGGAGAAGGCTGCTAGGGTGCTTGC	1	33476436	33476437	T	TTTGGAGAAGGCTGCTAGGGTGCTTGC	AK2	c.695-3_695-2insGCAAGCACCCTAGCAGCCTTCTCCAA	NM_013411.5	NP_037543.1:p.?	NC_000001.10:g.33476436_33476437insTTGGAGAAGGCTGCTAGGGTGCTTGC	(Likely) benign	1 lab	90e8c36b3f
11:86662559 FZD4 C>G	11	86662559	86662559	C	G	FZD4	c.1239G>C	NM_012193.4	NP_036325.2:p.(Leu413Phe)	NC_000011.9:g.86662559C>G	VUS	1 lab	90e99bccf6
1:110170896 AMPD2 T>C	1	110170896	110170896	T	C	AMPD2	c.1080T>C	NM_001257361.2	NP_001244290.1:p.(His360=)	NC_000001.10:g.110170896T>C	(Likely) benign	1 lab	90ebc21ad9
9:137644484 COL5A1 GC>G	9	137644484	137644487	GC	G	COL5A1	c.1715del	NM_000093.5	NP_000084.3:p.(Pro572LeufsTer10)	NC_000009.11:g.137644487del	(Likely) pathogenic	1 lab	90ebc42cc2
16:86602360 FOXC2 CAATGCCA>C	16	86602360	86602367	CAATGCCA	C	FOXC2	c.1420_1426del	NM_005251.3	NP_005242.1:p.(Asn474AlafsTer78)	NC_000016.9:g.86602361_86602367del	(Likely) pathogenic	1 lab	90f214445f
19:8176009 FBN3 C>T	19	8176009	8176009	C	T	FBN3	c.4143G>A	NM_032447.5	NP_115823.3:p.(Ala1381=)	NC_000019.9:g.8176009C>T	(Likely) benign	1 lab	90f3edfa7a
2:220286263 DES C>T	2	220286263	220286263	C	T	DES	c.1225C>T	NM_001927.4	NP_001918.3:p.(Leu409=)	NC_000002.11:g.220286263C>T	(Likely) benign	1 lab	90f5c9f56a
10:89690890 PTEN A>G	10	89690890	89690890	A	G	PTEN	c.253+44A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690890A>G	(Likely) benign	1 lab	90f68b21a6
1:63069736 ANGPTL3 A>G	1	63069736	63069736	A	G	ANGPTL3	c.1028A>G	NM_014495.4	NP_055310.1:p.(His343Arg)	NC_000001.10:g.63069736A>G	VUS	1 lab	91036f44f6
2:176803088 LNPK C>A	2	176803088	176803088	C	A	LNPK	c.929G>T	NM_001305009.1	NP_001291938.1:p.(Cys310Phe)	NC_000002.11:g.176803088C>A	VUS	1 lab	9103a25aaf
2:179425409 TTN C>T	2	179425409	179425409	C	T	TTN	c.85450G>A	NM_001267550.2	NP_001254479.2:p.(Asp28484Asn)	NC_000002.11:g.179425409C>T	VUS	1 lab	9107751e95
1:69270 OR4F5 A>G	1	69270	69270	A	G	OR4F5	c.243A>G	NM_001005484.2	NP_001005484.2:p.(Ser81=)	NC_000001.10:g.69270A>G	(Likely) benign	1 lab	910ae9942d
12:122248340 SETD1B G>C	12	122248340	122248340	G	C	SETD1B	c.1489G>C	NM_001353345.2	NP_001340274.1:p.(Asp497His)	NC_000012.11:g.122248340G>C	VUS	1 lab	91103e8c08
10:89720597 PTEN ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTT>A	10	89720597	89720638	ATTAATTAAATATGTCATTTCATTTCTTTTTCTTTTCTTT	A	PTEN	c.802-51_802-13del	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720600_89720638del	(Likely) benign	1 lab	91183681ad
2:27305282 EMILIN1 A>G	2	27305282	27305282	A	G	EMILIN1	c.843A>G	NM_007046.4	NP_008977.1:p.(Ser281=)	NC_000002.11:g.27305282A>G	(Likely) benign	1 lab	911b8f1f84
8:1873540 ARHGEF10 C>T	8	1873540	1873540	C	T	ARHGEF10	c.2652C>T	NM_001308153.2	NP_001295082.1:p.(Pro884=)	NC_000008.10:g.1873540C>T	(Likely) benign	1 lab	91201d1a37
10:69926055 MYPN T>C	10	69926055	69926055	T	C	MYPN	c.1605T>C	NM_032578.4	NP_115967.2:p.(Asn535=)	NC_000010.10:g.69926055T>C	(Likely) benign	1 lab	9125e33fc6
16:56996996 CETP G>C	16	56996996	56996996	G	C	CETP	c.193G>C	NM_000078.3	NP_000069.2:p.(Ala65Pro)	NC_000016.9:g.56996996G>C	(Likely) benign	1 lab	912a77e351
4:73175202 ADAMTS3 C>T	4	73175202	73175202	C	T	ADAMTS3	c.2091G>A	NM_014243.3	NP_055058.2:p.(Lys697=)	NC_000004.11:g.73175202C>T	(Likely) benign	1 lab	912c8278c3
2:179614240 TTN G>A	2	179614240	179614240	G	A	TTN	c.12887C>T	NM_133379.5	NP_596870.2:p.(Pro4296Leu)	NC_000002.11:g.179614240G>A	(Likely) benign	1 lab	912ceceb36
19:43865321 CD177 T>TAA	19	43865321	43865324	T	TAA	CD177	c.789_790dup	NM_020406.4	NP_065139.2:p.(Gly264GlufsTer47)	NC_000019.9:g.43865323_43865324dup	(Likely) benign	1 lab	9132ad2148
6:16141885 MYLIP C>T	6	16141885	16141885	C	T	MYLIP	c.308C>T	NM_013262.4	NP_037394.2:p.(Ala103Val)	NC_000006.11:g.16141885C>T	(Likely) benign	1 lab	913365ce09
13:52520627 ATP7B C>G	13	52520627	52520627	C	G	ATP7B	c.2866-13G>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52520627C>G	(Likely) benign	1 lab	9137524234
16:1005022 LMF1 G>GTA	16	1005022	1005023	G	GTA	LMF1	c.-361-357_-361-356insTA	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005022_1005023insTA	VUS	1 lab	913783ea69
2:206605350 NRP2 C>T	2	206605350	206605350	C	T	NRP2	c.1254C>T	NM_201266.2	NP_957718.1:p.(Ile418=)	NC_000002.11:g.206605350C>T	(Likely) benign	1 lab	913b11e6b4
9:79968312 VPS13A G>T	9	79968312	79968312	G	T	VPS13A	c.7420-13G>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79968312G>T	(Likely) benign	1 lab	913e6d67cf
2:21233108 APOB CTT>C	2	21233108	21233113	CTT	C	APOB	c.6630_6631del	NM_000384.3	NP_000375.3:p.(Leu2212Ter)	NC_000002.11:g.21233112_21233113del	(Likely) pathogenic	1 lab	913eace5c9
X:84558462 POF1B G>T	X	84558462	84558462	G	T	POF1B	c.1599C>A	NM_024921.4	NP_079197.3:p.(Ser533=)	NC_000023.10:g.84558462G>T	(Likely) benign	1 lab	9140f122da
14:81609890 TSHR G>A	14	81609890	81609890	G	A	TSHR	c.1488G>A	NM_000369.5	NP_000360.2:p.(Thr496=)	NC_000014.8:g.81609890G>A	(Likely) benign	1 lab	914410383d
3:78649468 ROBO1 T>C	3	78649468	78649468	T	C	ROBO1	c.4610-9A>G	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78649468T>C	(Likely) benign	1 lab	91458dbbd6
4:100534121 MTTP GA>G	4	100534121	100534122	GA	G	MTTP	c.2042del	NM_000253.4	NP_000244.2:p.(Glu681GlyfsTer33)	NC_000004.11:g.100534122del	(Likely) pathogenic	1 lab	9147caf81c
6:56323855 DST G>A	6	56323855	56323855	G	A	DST	c.16976C>T	NM_001144769.5	NP_001138241.1:p.(Thr5659Met)	NC_000006.11:g.56323855G>A	VUS	1 lab	914b446637
9:72055975 APBA1 G>A	9	72055975	72055975	G	A	APBA1	c.2238C>T	NM_001163.4	NP_001154.2:p.(Thr746=)	NC_000009.11:g.72055975G>A	(Likely) benign	1 lab	914bcce8d8
12:125270911 SCARB1 G>A	12	125270911	125270911	G	A	SCARB1	c.1393C>T	NM_001367981.1	NP_001354910.1:p.(Arg465Trp)	NC_000012.11:g.125270911G>A	VUS	1 lab	915085f7c9
18:47093444 LIPG C>T	18	47093444	47093444	C	T	LIPG	c.280-368C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47093444C>T	(Likely) benign	1 lab	91531664e4
2:215632371 BARD1 G>A	2	215632371	215632371	G	A	BARD1	c.1403C>T	NM_000465.4	NP_000456.2:p.(Ala468Val)	NC_000002.11:g.215632371G>A	VUS	1 lab	9157cc2a25
X:30615031 MISSING G>Alt too long to show for this DUP	X	30615031	30877805	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.30615033_30877805dup	VUS	1 lab	918b3f3bcc
12:5021540 KCNA1 C>A	12	5021540	5021540	C	A	KCNA1	c.996C>A	NM_000217.3	NP_000208.2:p.(Phe332Leu)	NC_000012.11:g.5021540C>A	VUS	1 lab	91593af76e
20:42747253 JPH2 C>T	20	42747253	42747253	C	T	JPH2	c.1180G>A	NM_020433.5	NP_065166.2:p.(Ala394Thr)	NC_000020.10:g.42747253C>T	VUS	1 lab	91597ad2e4
11:22257781 ANO5 C>T	11	22257781	22257781	C	T	ANO5	c.721C>T	NM_213599.3	NP_998764.1:p.(Leu241=)	NC_000011.9:g.22257781C>T	(Likely) benign	1 lab	91649da82b
19:11226896 LDLR C>A	19	11226896	11226896	C	A	LDLR	c.1705+8C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226896C>A	(Likely) benign	1 lab	916645ea08
2:15694253 NBAS A>G	2	15694253	15694253	A	G	NBAS	c.219T>C	NM_015909.4	NP_056993.2:p.(Pro73=)	NC_000002.11:g.15694253A>G	(Likely) benign	1 lab	916dfbf1bd
5:149276261 PDE6A C>T	5	149276261	149276261	C	T	PDE6A	c.1473+13G>A	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149276261C>T	(Likely) benign	1 lab	916e324b85
1:211832061 NEK2 CAAAAA>C	1	211832061	211832090	CAAAAA	C	NEK2	c.1112-12_1112-8del	NM_001204182.2	NP_001191111.1:p.?	NC_000001.10:g.211832086_211832090del	(Likely) benign	1 lab	916ed15b07
10:112559578 RBM20 C>T	10	112559578	112559578	C	T	RBM20	c.1702C>T	NM_001134363.3	NP_001127835.2:p.(Gln568Ter)	NC_000010.10:g.112559578C>T	VUS	1 lab	9177b1217b
1:866422 SAMD11 C>T	1	866422	866422	C	T	SAMD11	c.795C>T	NM_001385640.1	NP_001372569.1:p.(Val265=)	NC_000001.10:g.866422C>T	(Likely) benign	1 lab	9181451654
15:48806188 FBN1 T>A	15	48806188	48806188	T	A	FBN1	c.1469-323A>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48806188T>A	(Likely) benign	1 lab	918246f7e1
9:139407383 NOTCH1 T>C	9	139407383	139407383	T	C	NOTCH1	c.2467+90A>G	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139407383T>C	(Likely) benign	1 lab	91855b720f
6:33270920 MISSING C>Alt too long to show for this DUP	6	33270920	33471881	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.33270923_33471881dup	(Likely) pathogenic	1 lab	9185a7b422
8:61713042 CHD7 TG>T	8	61713042	61713045	TG	T	CHD7	c.2337del	NM_017780.4	NP_060250.2:p.(Arg780GlyfsTer23)	NC_000008.10:g.61713045del	(Likely) pathogenic	1 lab	91974bbd2e
7:154677462 DPP6 G>A	7	154677462	154677462	G	A	DPP6	c.2245+8G>A	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154677462G>A	(Likely) benign	1 lab	919c4f14a8
3:49698524 BSN C>T	3	49698524	49698524	C	T	BSN	c.9246C>T	NM_003458.4	NP_003449.2:p.(Thr3082=)	NC_000003.11:g.49698524C>T	(Likely) benign	1 lab	919d31d06b
18:77171061 NFATC1 T>G	18	77171061	77171061	T	G	NFATC1	c.786T>G	NM_001278669.2	NP_001265598.1:p.(Pro262=)	NC_000018.9:g.77171061T>G	(Likely) benign	1 lab	919fedbb32
13:23930089 SACS A>G	13	23930089	23930089	A	G	SACS	c.662T>C	NM_014363.6	NP_055178.3:p.(Leu221Pro)	NC_000013.10:g.23930089A>G	VUS	1 lab	91aab2be2d
6:75899437 COL12A1 A>G	6	75899437	75899437	A	G	COL12A1	c.489T>C	NM_004370.6	NP_004361.3:p.(Ile163=)	NC_000006.11:g.75899437A>G	(Likely) benign	1 lab	91adcb3038
2:179547949 TTN T>G	2	179547949	179547949	T	G	TTN	c.32876A>C	NM_001267550.2	NP_001254479.2:p.(Gln10959Pro)	NC_000002.11:g.179547949T>G	VUS	1 lab	91ade3db05
12:970296 WNK1 GA>G	12	970296	970306	GA	G	WNK1	c.1748del	NM_001184985.2	NP_001171914.1:p.(Lys583SerfsTer11)	NC_000012.11:g.970306del	(Likely) benign	1 lab	91b5df9168
11:47364553 MYBPC3 C>T	11	47364553	47364553	C	T	MYBPC3	c.1351+19G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364553C>T	(Likely) benign	1 lab	91bf302afe
5:10262670 CCT5 G>T	5	10262670	10262670	G	T	CCT5	c.1143G>T	NM_001306156.2	NP_001293085.1:p.(Val381=)	NC_000005.9:g.10262670G>T	(Likely) benign	1 lab	91c1bf852f
8:10464963 RP1L1 C>T	8	10464963	10464963	C	T	RP1L1	c.6645G>A	NM_178857.6	NP_849188.4:p.(Pro2215=)	NC_000008.10:g.10464963C>T	(Likely) benign	1 lab	91c3bf1836
22:51018156 CHKB C>T	22	51018156	51018156	C	T	CHKB	c.1031G>A	NM_005198.5	NP_005189.2:p.(Arg344Gln)	NC_000022.10:g.51018156C>T	(Likely) pathogenic	1 lab	91c77af236
2:21228483 APOB A>G	2	21228483	21228483	A	G	APOB	c.11257T>C	NM_000384.3	NP_000375.3:p.(Phe3753Leu)	NC_000002.11:g.21228483A>G	(Likely) benign	1 lab	91c7eee6d3
5:37186454 CPLANE1 C>T	5	37186454	37186454	C	T	CPLANE1	c.4123G>A	NM_023073.4	NP_075561.3:p.(Val1375Met)	NC_000005.9:g.37186454C>T	(Likely) benign	1 lab	91cd43a226
2:44051091 ABCG5 C>T	2	44051091	44051091	C	T	ABCG5	c.1285G>A	NM_022436.3	NP_071881.1:p.(Ala429Thr)	NC_000002.11:g.44051091C>T	VUS	1 lab	91cd940a9f
3:38597738 SCN5A C>T	3	38597738	38597738	C	T	SCN5A	c.4437+194G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38597738C>T	(Likely) benign	1 lab	91d1dfa6da
19:11224130 LDLR G>T	19	11224130	11224130	G	T	LDLR	c.1358+5G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224130G>T	(Likely) benign	1 lab	91d2bb1403
1:161127952 UFC1 G>A	1	161127952	161127952	G	A	UFC1	c.374G>A	NM_016406.4	NP_057490.2:p.(Trp125Ter)	NC_000001.10:g.161127952G>A	VUS	1 lab	91d35a6b75
11:31799458 ELP4 T>Alt too long to show for this DUP	11	31799458	31809545	T	Alt too long to show for this DUP	ELP4	c.1144-5479_*4473dup	NM_019040.5	NP_061913.3:p.?	NC_000011.9:g.31799462_31809545dup	VUS	1 lab	91e0b1dc72
16:57012158 CETP A>G	16	57012158	57012158	A	G	CETP	c.1137A>G	NM_000078.3	NP_000069.2:p.(Thr379=)	NC_000016.9:g.57012158A>G	(Likely) benign	1 lab	91e188b0b2
19:1399201 GAMT G>A	19	1399201	1399201	G	A	GAMT	c.392-7C>T	NM_138924.3	NP_620279.1:p.?	NC_000019.9:g.1399201G>A	(Likely) benign	1 lab	91e62aed6a
12:122252197 SETD1B CCCA>C	12	122252197	122252211	CCCA	C	SETD1B	c.2088_2090del	NM_001353345.2	NP_001340274.1:p.(Pro699del)	NC_000012.11:g.122252209_122252211del	(Likely) benign	1 lab	91ed497e60
21:43183446 MISSING C>Alt too long to show for this DUP	21	43183446	43206035	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.43183448_43206035dup	(Likely) pathogenic	1 lab	91eddbb8e6
17:36483584 GPR179 G>A	17	36483584	36483584	G	A	GPR179	c.5868C>T	NM_001004334.4	NP_001004334.3:p.(Ser1956=)	NC_000017.10:g.36483584G>A	(Likely) benign	1 lab	91eef255f5
2:101939304 MISSING A>Alt too long to show for this DUP	2	101939304	102017812	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.101939305_102017812dup	VUS	1 lab	91f1574ec3
1:39389346 MISSING Ref too long to show for this DEL>T	1	39389346	39431484	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.39389347_39431484del	VUS	1 lab	91f1d27e8b
3:14174423 TMEM43 A>G	3	14174423	14174423	A	G	TMEM43	c.500A>G	NM_024334.3	NP_077310.1:p.(His167Arg)	NC_000003.11:g.14174423A>G	VUS	1 lab	91fe60e754
9:35738088 GBA2 C>G	9	35738088	35738088	C	G	GBA2	c.2259G>C	NM_001330660.2	NP_001317589.1:p.(Gln753His)	NC_000009.11:g.35738088C>G	VUS	1 lab	91fe88e33f
1:228557694 OBSCN G>A	1	228557694	228557694	G	A	OBSCN	c.22890G>A	NM_001271223.2	NP_001258152.2:p.(Leu7630=)	NC_000001.10:g.228557694G>A	(Likely) benign	1 lab	91ff00b57c
5:178418549 GRM6 T>C	5	178418549	178418549	T	C	GRM6	c.733A>G	NM_000843.4	NP_000834.2:p.(Ile245Val)	NC_000005.9:g.178418549T>C	(Likely) benign	1 lab	91ff3f2777
8:30933816 WRN C>CT	8	30933816	30933828	C	CT	WRN	c.839+25dup	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30933828dup	(Likely) benign	1 lab	9209a36f91
9:107556793 ABCA1 TAAAAA>T	9	107556793	107556811	TAAAAA	T	ABCA1	c.5383-7_5383-3del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556807_107556811del	(Likely) benign	1 lab	9209faff69
13:93635512 MISSING T>Alt too long to show for this DUP	13	93635512	94005293	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.93635513_94005293dup	VUS	1 lab	9210beec51
3:195507638 MUC4 C>T	3	195507638	195507638	C	T	MUC4	c.10813G>A	NM_018406.7	NP_060876.5:p.(Asp3605Asn)	NC_000003.11:g.195507638C>T	(Likely) benign	1 lab	921a0b0668
6:121768453 GJA1 A>G	6	121768453	121768453	A	G	GJA1	c.460A>G	NM_000165.5	NP_000156.1:p.(Thr154Ala)	NC_000006.11:g.121768453A>G	(Likely) pathogenic	1 lab	921accb331
12:11286221 TAS2R30 T>A	12	11286221	11286221	T	A	TAS2R30	c.623A>T	NM_001097643.1	NP_001091112.1:p.(Lys208Met)	NC_000012.11:g.11286221T>A	(Likely) benign	1 lab	922202eb13
13:100635007 ZIC2 CCCACCA>C	13	100635007	100635036	CCCACCA	C	ZIC2	c.713_718del	NM_007129.5	NP_009060.2:p.(His238_His239del)	NC_000013.10:g.100635031_100635036del	(Likely) benign	1 lab	9225349360
7:128488072 FLNC C>T	7	128488072	128488072	C	T	FLNC	c.4530C>T	NM_001458.5	NP_001449.3:p.(Asp1510=)	NC_000007.13:g.128488072C>T	(Likely) benign	1 lab	9225db760d
8:145007534 PLEC C>T	8	145007534	145007534	C	T	PLEC	c.1675-15G>A	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145007534C>T	(Likely) benign	1 lab	922890bcf3
9:134014671 NUP214 A>T	9	134014671	134014671	A	T	NUP214	c.1009A>T	NM_005085.4	NP_005076.3:p.(Asn337Tyr)	NC_000009.11:g.134014671A>T	(Likely) benign	1 lab	923060253c
9:107564321 ABCA1 G>A	9	107564321	107564321	G	A	ABCA1	c.4698+14C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564321G>A	(Likely) benign	1 lab	9230b53485
2:44065074 ABCG5 C>T	2	44065074	44065074	C	T	ABCG5	c.164G>A	NM_022436.3	NP_071881.1:p.(Trp55Ter)	NC_000002.11:g.44065074C>T	(Likely) pathogenic	1 lab	9236bebb57
11:6943099 MISSING G>Alt too long to show for this DUP	11	6943099	7148635	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.6943104_7148635dup	VUS	1 lab	92376a1cbb
15:58830618 LIPC A>C	15	58830618	58830618	A	C	LIPC	c.175A>C	NM_000236.3	NP_000227.2:p.(Asn59His)	NC_000015.9:g.58830618A>C	VUS	1 lab	923923da6f
1:160677506 MISSING Ref too long to show for this DEL>G	1	160677506	160683971	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.160677508_160683971del	VUS	1 lab	923a33ff86
18:34310641 FHOD3 C>T	18	34310641	34310641	C	T	FHOD3	c.3450C>T	NM_001281740.3	NP_001268669.1:p.(Ile1150=)	NC_000018.9:g.34310641C>T	(Likely) benign	1 lab	923e61bac7
16:46763619 MYLK3 C>T	16	46763619	46763619	C	T	MYLK3	c.1569-20G>A	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46763619C>T	(Likely) benign	1 lab	924143bae7
7:128484762 FLNC G>A	7	128484762	128484762	G	A	FLNC	c.3243G>A	NM_001458.5	NP_001449.3:p.(Ala1081=)	NC_000007.13:g.128484762G>A	(Likely) benign	1 lab	924a334362
7:150773255 SLC4A2 C>T	7	150773255	150773255	C	T	SLC4A2	c.3627C>T	NM_001199692.3	NP_001186621.1:p.(Thr1209=)	NC_000007.13:g.150773255C>T	(Likely) benign	1 lab	924c2f7b3a
11:47366437 MYBPC3 G>A	11	47366437	47366437	G	A	MYBPC3	c.1091-1262C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366437G>A	(Likely) benign	1 lab	924e3f278a
11:10859716 MISSING G>Alt too long to show for this DUP	11	10859716	11292543	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.10859717_11292543dup	VUS	1 lab	925005d661
22:25603046 CRYBB3 G>A	22	25603046	25603046	G	A	CRYBB3	c.503G>A	NM_004076.5	NP_004067.1:p.(Gly168Glu)	NC_000022.10:g.25603046G>A	VUS	1 lab	9251fe681e
X:31496393 DMD C>A	X	31496393	31496393	C	A	DMD	c.8767G>T	NM_004006.3	NP_003997.2:p.(Ala2923Ser)	NC_000023.10:g.31496393C>A	(Likely) benign	1 lab	92536521e1
7:5568341 ACTB C>T	7	5568341	5568341	C	T	ACTB	c.373G>A	NM_001101.5	NP_001092.1:p.(Glu125Lys)	NC_000007.13:g.5568341C>T	(Likely) pathogenic	1 lab	92598104dc
11:123513390 SCN3B A>T	11	123513390	123513390	A	T	SCN3B	c.220-11T>A	NM_018400.4	NP_060870.1:p.?	NC_000011.9:g.123513390A>T	(Likely) benign	1 lab	925b441f09
2:11817818 LPIN1 G>A	2	11817818	11817818	G	A	LPIN1	c.45G>A	NM_001261428.3	NP_001248357.1:p.(Ser15=)	NC_000002.11:g.11817818G>A	(Likely) benign	1 lab	92626d8daf
11:47362609 MYBPC3 C>G	11	47362609	47362609	C	G	MYBPC3	c.1898-26G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362609C>G	(Likely) benign	1 lab	926436c709
2:209026390 MISSING Ref too long to show for this DEL>A	2	209026390	209050044	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.209026392_209050044del	VUS	1 lab	926a686f1f
16:66570874 TK2 T>C	16	66570874	66570874	T	C	TK2	c.131A>G	NM_001271934.2	NP_001258863.1:p.(Asn44Ser)	NC_000016.9:g.66570874T>C	VUS	1 lab	92719c6d8b
16:28877595 SH2B1 C>T	16	28877595	28877595	C	T	SH2B1	c.180C>T	NM_001145795.2	NP_001139267.1:p.(Ala60=)	NC_000016.9:g.28877595C>T	(Likely) benign	1 lab	92727fc6f8
1:27876444 AHDC1 CG>C	1	27876444	27876446	CG	C	AHDC1	c.2182del	NM_001371928.1	NP_001358857.1:p.(Arg728GlyfsTer4)	NC_000001.10:g.27876446del	(Likely) pathogenic	1 lab	9275701a76
3:145788552 PLOD2 A>G	3	145788552	145788552	A	G	PLOD2	c.2229T>C	NM_182943.3	NP_891988.1:p.(Pro743=)	NC_000003.11:g.145788552A>G	(Likely) benign	1 lab	9275b9f04d
15:67473809 SMAD3 T>TC	15	67473809	67473813	T	TC	SMAD3	c.871+22dup	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473813dup	(Likely) benign	1 lab	9275c76409
9:139944736 ENTPD2 C>G	9	139944736	139944736	C	G	ENTPD2	c.1029G>C	NM_203468.3	NP_982293.1:p.(Val343=)	NC_000009.11:g.139944736C>G	(Likely) benign	1 lab	9276a23610
6:32009133 TNXB C>A	6	32009133	32009133	C	A	TNXB	c.12722G>T	NM_019105.8	NP_061978.6:p.(Gly4241Val)	NC_000006.11:g.32009133C>A	(Likely) benign	1 lab	9277ad357a
19:40902620 PRX G>A	19	40902620	40902620	G	A	PRX	c.*1844C>T	NM_020956.2	NP_066007.1:p.?	NC_000019.9:g.40902620G>A	(Likely) pathogenic	1 lab	9278ed65f8
19:40903208 PRX G>A	19	40903208	40903208	G	A	PRX	c.1051C>T	NM_181882.3	NP_870998.2:p.(Pro351Ser)	NC_000019.9:g.40903208G>A	(Likely) benign	1 lab	927afcaa7a
X:70444718 GJB1 G>A	X	70444718	70444718	G	A	GJB1	c.*309G>A	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70444718G>A	(Likely) benign	1 lab	928163a04e
19:10283775 DNMT1 T>G	19	10283775	10283775	T	G	DNMT1	c.759A>C	NM_001130823.3	NP_001124295.1:p.(Arg253Ser)	NC_000019.9:g.10283775T>G	VUS	1 lab	92850ed97b
6:65016982 EYS GA>G	6	65016982	65016983	GA	G	EYS	c.6079-8del	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65016983del	(Likely) benign	1 lab	928757a533
2:21225404 APOB C>T	2	21225404	21225404	C	T	APOB	c.12890G>A	NM_000384.3	NP_000375.3:p.(Arg4297His)	NC_000002.11:g.21225404C>T	VUS	1 lab	928767b823
1:201341261 TNNT2 G>A	1	201341261	201341261	G	A	TNNT2	c.52+12C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201341261G>A	(Likely) benign	1 lab	928c7d8b8e
18:60940006 MISSING Ref too long to show for this DEL>A	18	60940006	61027091	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.60940008_61027091del	VUS	1 lab	928f99e51a
12:51740416 CELA1 C>CG	12	51740416	51740417	C	CG	CELA1	c.6_7insC	NM_001971.6	NP_001962.3:p.(Val3ArgfsTer22)	NC_000012.11:g.51740416_51740417insG	(Likely) benign	1 lab	929072a21a
22:50906909 SBF1 G>A	22	50906909	50906909	G	A	SBF1	c.56-19C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50906909G>A	(Likely) benign	1 lab	92910a897e
2:179632790 TTN T>C	2	179632790	179632790	T	C	TTN	c.9256A>G	NM_001267550.2	NP_001254479.2:p.(Ile3086Val)	NC_000002.11:g.179632790T>C	VUS	1 lab	929298eacd
2:220146642 DNAJB2 C>G	2	220146642	220146642	C	G	DNAJB2	c.230-19C>G	NM_006736.6	NP_006727.2:p.?	NC_000002.11:g.220146642C>G	(Likely) benign	1 lab	9293243610
12:8808166 MFAP5 G>A	12	8808166	8808166	G	A	MFAP5	c.140-123C>T	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8808166G>A	(Likely) benign	1 lab	9294b00929
4:9217205 USP17L11 C>A	4	9217205	9217205	C	A	USP17L11	c.75C>A	NM_001256854.1	NP_001243783.1:p.(Pro25=)	NC_000004.11:g.9217205C>A	(Likely) benign	1 lab	929617a61c
11:47361352 MYBPC3 C>T	11	47361352	47361352	C	T	MYBPC3	c.1928-11G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361352C>T	(Likely) benign	1 lab	929c33d44b
1:16909057 NBPF1 A>C	1	16909057	16909057	A	C	NBPF1	c.1288T>G	NM_017940.6	NP_060410.3:p.(Phe430Val)	NC_000001.10:g.16909057A>C	(Likely) benign	1 lab	92a209bfff
7:25649457 MISSING Ref too long to show for this DEL>A	7	25649457	27079466	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.25649458_27079466del	(Likely) pathogenic	1 lab	92aad29211
2:44041618 ABCG5 C>T	2	44041618	44041618	C	T	ABCG5	c.1760G>A	NM_022436.3	NP_071881.1:p.(Cys587Tyr)	NC_000002.11:g.44041618C>T	(Likely) pathogenic	1 lab	92ad003421
2:44104833 ABCG8 CG>C	2	44104833	44104837	CG	C	ABCG8	c.1884+10del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104837del	(Likely) benign	1 lab	92b04d600f
6:7583827 DSP TCAAGA>T	6	7583827	7583832	TCAAGA	T	DSP	c.6333_6337del	NM_004415.4	NP_004406.2:p.(Lys2113PhefsTer3)	NC_000006.11:g.7583828_7583832del	(Likely) benign	1 lab	92b8a11335
9:35067953 VCP A>C	9	35067953	35067953	A	C	VCP	c.237T>G	NM_007126.5	NP_009057.1:p.(Asp79Glu)	NC_000009.11:g.35067953A>C	VUS	1 lab	92b9c67e74
11:10702924 MISSING G>Alt too long to show for this DUP	11	10702924	10967403	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.10702927_10967403dup	(Likely) pathogenic	1 lab	92bd33238a
2:21230248 APOB C>T	2	21230248	21230248	C	T	APOB	c.9492G>A	NM_000384.3	NP_000375.3:p.(Thr3164=)	NC_000002.11:g.21230248C>T	(Likely) benign	1 lab	92be0b5885
12:125298857 SCARB1 C>T	12	125298857	125298857	C	T	SCARB1	c.521G>A	NM_001367981.1	NP_001354910.1:p.(Arg174His)	NC_000012.11:g.125298857C>T	(Likely) benign	1 lab	92be613835
2:21234823 APOB A>G	2	21234823	21234823	A	G	APOB	c.4917T>C	NM_000384.3	NP_000375.3:p.(Gly1639=)	NC_000002.11:g.21234823A>G	(Likely) benign	1 lab	92bf2cce7f
X:48458064 WDR13 C>T	X	48458064	48458064	C	T	WDR13	c.206C>T	NM_001166426.3	NP_001159898.1:p.(Ala69Val)	NC_000023.10:g.48458064C>T	VUS	1 lab	92bfdff73c
15:40488857 BUB1B G>C	15	40488857	40488857	G	C	BUB1B	c.1170G>C	NM_001211.6	NP_001202.5:p.(Glu390Asp)	NC_000015.9:g.40488857G>C	(Likely) benign	1 lab	92c1998118
20:5092253 TMEM230 TAAAAAAAAAAAAAAAAAAAAAAAAA>T	20	5092253	5092293	TAAAAAAAAAAAAAAAAAAAAAAAAA	T	TMEM230	c.-121-27_-121-3del	NM_001009924.2	NP_001009924.1:p.?	NC_000020.10:g.5092269_5092293del	(Likely) benign	1 lab	92c4b91ded
6:75797302 COL12A1 C>T	6	75797302	75797302	C	T	COL12A1	c.9172G>A	NM_004370.6	NP_004361.3:p.(Gly3058Ser)	NC_000006.11:g.75797302C>T	(Likely) benign	1 lab	92c4f827ad
12:125294749 SCARB1 C>T	12	125294749	125294749	C	T	SCARB1	c.813G>A	NM_005505.5	NP_005496.4:p.(Ser271=)	NC_000012.11:g.125294749C>T	(Likely) benign	1 lab	92c5036288
4:745114 MISSING C>Alt too long to show for this DUP	4	745114	927841	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.745117_927841dup	VUS	1 lab	92c842177b
13:103515167 ERCC5 C>T	13	103515167	103515167	C	T	ERCC5	c.1668C>T	NM_000123.4	NP_000114.3:p.(Phe556=)	NC_000013.10:g.103515167C>T	(Likely) benign	1 lab	92cdbcfd8c
19:11227572 LDLR A>T	19	11227572	11227572	A	T	LDLR	c.1743A>T	NM_000527.5	NP_000518.1:p.(Lys581Asn)	NC_000019.9:g.11227572A>T	VUS	1 lab	92ce1762b9
2:230723835 TRIP12 G>A	2	230723835	230723835	G	A	TRIP12	c.680C>T	NM_001348325.2	NP_001335254.1:p.(Ser227Leu)	NC_000002.11:g.230723835G>A	VUS	1 lab	92edebdbfb
2:236595934 AGAP1 A>Alt too long to show for this DUP	2	236595934	236611954	A	Alt too long to show for this DUP	AGAP1	c.164-21888_164-5869dup	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236595935_236611954dup	VUS	1 lab	92d01605ed
3:52441349 BAP1 T>C	3	52441349	52441349	T	C	BAP1	c.438-17A>G	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52441349T>C	(Likely) benign	1 lab	92d409af5e
13:52513215 ATP7B C>A	13	52513215	52513215	C	A	ATP7B	c.3671G>T	NM_000053.4	NP_000044.2:p.(Arg1224Leu)	NC_000013.10:g.52513215C>A	VUS	1 lab	92d44b0dc8
16:89858321 FANCA G>A	16	89858321	89858321	G	A	FANCA	c.1225+14C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89858321G>A	(Likely) benign	1 lab	92d61c41b0
5:88024447 MEF2C T>C	5	88024447	88024447	T	C	MEF2C	c.965-2A>G	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88024447T>C	(Likely) pathogenic	1 lab	92d68e9c2e
3:14693344 CCDC174 A>G	3	14693344	14693344	A	G	CCDC174	n.76A>G	NR_135523.2		NC_000003.11:g.14693344A>G	(Likely) pathogenic	1 lab	92d962fed9
19:11224292 LDLR T>A	19	11224292	11224292	T	A	LDLR	c.1440T>A	NM_000527.5	NP_000518.1:p.(Ala480=)	NC_000019.9:g.11224292T>A	(Likely) benign	1 lab	92dad6da82
12:21370114 SLCO1B1 A>T	12	21370114	21370114	A	T	SLCO1B1	c.1559A>T	NM_006446.5	NP_006437.3:p.(His520Leu)	NC_000012.11:g.21370114A>T	(Likely) benign	1 lab	92db917c69
11:107572047 MISSING Ref too long to show for this DEL>G	11	107572047	107593183	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.107572050_107593183del	VUS	1 lab	92debb10d6
3:52409343 DNAH1 T>TG	3	52409343	52409344	T	TG	DNAH1	c.7074dup	NM_015512.5	NP_056327.4:p.(Arg2359AlafsTer10)	NC_000003.11:g.52409344dup	(Likely) pathogenic	1 lab	92e6d7507a
8:19811023 LPL A>ATG	8	19811023	19811029	A	ATG	LPL	c.541+96_541+97dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811028_19811029dup	(Likely) benign	1 lab	92eb871413
1:236849991 ACTN2 C>A	1	236849991	236849991	C	A	ACTN2	c.18C>A	NM_001103.4	NP_001094.1:p.(Pro6=)	NC_000001.10:g.236849991C>A	(Likely) benign	1 lab	92ede03835
12:111356956 MYL2 G>A	12	111356956	111356956	G	A	MYL2	c.45C>T	NM_000432.4	NP_000423.2:p.(Ser15=)	NC_000012.11:g.111356956G>A	(Likely) benign	1 lab	92f5fe2010
1:94466570 ABCA4 A>G	1	94466570	94466570	A	G	ABCA4	c.6374T>C	NM_000350.3	NP_000341.2:p.(Leu2125Pro)	NC_000001.10:g.94466570A>G	VUS	1 lab	92fb66f9d4
12:59271309 LRIG3 G>A	12	59271309	59271309	G	A	LRIG3	c.2409C>T	NM_153377.5	NP_700356.2:p.(Asp803=)	NC_000012.11:g.59271309G>A	(Likely) benign	1 lab	92fd236579
20:17475578 BFSP1 T>A	20	17475578	17475578	T	A	BFSP1	c.1139A>T	NM_001195.5	NP_001186.1:p.(Asp380Val)	NC_000020.10:g.17475578T>A	VUS	1 lab	9301bf2eca
12:11286746 TAS2R30 A>G	12	11286746	11286746	A	G	TAS2R30	c.98T>C	NM_001097643.1	NP_001091112.1:p.(Ile33Thr)	NC_000012.11:g.11286746A>G	(Likely) benign	1 lab	9306121dbf
2:219679439 CYP27A1 C>G	2	219679439	219679439	C	G	CYP27A1	c.1435C>G	NM_000784.4	NP_000775.1:p.(Arg479Gly)	NC_000002.11:g.219679439C>G	VUS	1 lab	9312e4ab2b
16:2129639 TSC2 T>C	16	2129639	2129639	T	C	TSC2	c.3366T>C	NM_000548.5	NP_000539.2:p.(Arg1122=)	NC_000016.9:g.2129639T>C	(Likely) benign	1 lab	9316c681f1
20:62090403 MISSING G>Alt too long to show for this DUP	20	62090403	62318983	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.62090404_62318983dup	VUS	1 lab	9319238c8f
2:21234549 APOB C>T	2	21234549	21234549	C	T	APOB	c.5191G>A	NM_000384.3	NP_000375.3:p.(Val1731Ile)	NC_000002.11:g.21234549C>T	VUS	1 lab	931c5a0a4c
9:131367680 SPTAN1 C>T	9	131367680	131367680	C	T	SPTAN1	c.4006C>T	NM_001375318.1	NP_001362247.1:p.(Leu1336=)	NC_000009.11:g.131367680C>T	(Likely) benign	1 lab	9323150445
17:1584113 PRPF8 G>A	17	1584113	1584113	G	A	PRPF8	c.1005C>T	NM_006445.4	NP_006436.3:p.(Pro335=)	NC_000017.10:g.1584113G>A	(Likely) benign	1 lab	93290c4910
9:139417413 NOTCH1 T>C	9	139417413	139417413	T	C	NOTCH1	c.631A>G	NM_017617.5	NP_060087.3:p.(Thr211Ala)	NC_000009.11:g.139417413T>C	VUS	1 lab	932f2e6072
22:18739254 MISSING Ref too long to show for this DEL>A	22	18739254	18999862	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.18739256_18999862del	VUS	1 lab	932f9fa042
1:216500939 USH2A G>T	1	216500939	216500939	G	T	USH2A	c.842C>A	NM_206933.4	NP_996816.3:p.(Thr281Lys)	NC_000001.10:g.216500939G>T	VUS	1 lab	93302b8205
3:37565110 ITGA9 G>T	3	37565110	37565110	G	T	ITGA9	c.1327+8G>T	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37565110G>T	(Likely) benign	1 lab	9330355471
6:119150335 MCM9 G>A	6	119150335	119150335	G	A	MCM9	c.1404C>T	NM_017696.3	NP_060166.2:p.(Ser468=)	NC_000006.11:g.119150335G>A	(Likely) benign	1 lab	9332f84c42
2:25497891 DNMT3A C>T	2	25497891	25497891	C	T	DNMT3A	c.558G>A	NM_175629.2	NP_783328.1:p.(Pro186=)	NC_000002.11:g.25497891C>T	(Likely) benign	1 lab	93368a56ec
19:45412013 APOE C>T	19	45412013	45412013	C	T	APOE	c.538C>T	NM_001302688.2	NP_001289617.1:p.(Arg180Cys)	NC_000019.9:g.45412013C>T	(Likely) pathogenic	1 lab	933ef8e05b
3:369979 CHL1 C>T	3	369979	369979	C	T	CHL1	c.327C>T	NM_006614.4	NP_006605.2:p.(Cys109=)	NC_000003.11:g.369979C>T	(Likely) benign	1 lab	93422d8015
10:104160959 NFKB2 C>T	10	104160959	104160959	C	T	NFKB2	c.2094C>T	NM_001288724.1	NP_001275653.1:p.(Asn698=)	NC_000010.10:g.104160959C>T	(Likely) benign	1 lab	9343746a5f
1:148344722 NBPF26 G>C	1	148344722	148344722	G	C	NBPF26	c.196C>G	NM_001351372.1	NP_001338301.1:p.(Leu66Val)	NC_000001.10:g.148344722G>C	(Likely) benign	1 lab	93470856a5
6:55921950 COL21A1 Ref too long to show for this DEL>G	6	55921950	55936405	Ref too long to show for this DEL	G	COL21A1	c.1966-809_*504del	NM_030820.4	NP_110447.2:p.?	NC_000006.11:g.55921951_55936405del	VUS	1 lab	934c4b25d5
18:44560375 MISSING G>Alt too long to show for this DUP	18	44560375	44649112	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.44560377_44649112dup	VUS	1 lab	935072b656
1:236917701 ACTN2 A>G	1	236917701	236917701	A	G	ACTN2	c.1974+320A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236917701A>G	(Likely) benign	1 lab	93513f49d5
1:237919624 RYR2 C>A	1	237919624	237919624	C	A	RYR2	c.11182C>A	NM_001035.3	NP_001026.2:p.(Gln3728Lys)	NC_000001.10:g.237919624C>A	(Likely) pathogenic	1 lab	935193e014
8:94777851 TMEM67 T>C	8	94777851	94777851	T	C	TMEM67	c.628T>C	NM_153704.6	NP_714915.3:p.(Ser210Pro)	NC_000008.10:g.94777851T>C	(Likely) pathogenic	1 lab	9352a955c0
2:189927590 COL5A2 C>A	2	189927590	189927590	C	A	COL5A2	c.1977+1G>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189927590C>A	(Likely) pathogenic	1 lab	9352fd6265
15:85400174 ALPK3 A>G	15	85400174	85400174	A	G	ALPK3	c.2205A>G	NM_020778.5	NP_065829.4:p.(Pro735=)	NC_000015.9:g.85400174A>G	(Likely) benign	1 lab	9353ce2619
17:38289345 MSL1 TGAGAA>T	17	38289345	38289356	TGAGAA	T	MSL1	c.1546_1550del	NM_001365919.1	NP_001352848.1:p.(Arg516GlufsTer23)	NC_000017.10:g.38289352_38289356del	VUS	1 lab	935dab790f
11:46299828 CREB3L1 C>T	11	46299828	46299828	C	T	CREB3L1	c.102+64C>T	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46299828C>T	(Likely) benign	1 lab	935ef47858
2:179476106 TTN G>T	2	179476106	179476106	G	T	TTN	c.50850C>A	NM_001267550.2	NP_001254479.2:p.(Asp16950Glu)	NC_000002.11:g.179476106G>T	VUS	1 lab	936f3e3012
10:75849894 VCL C>T	10	75849894	75849894	C	T	VCL	c.1290C>T	NM_014000.3	NP_054706.1:p.(Asp430=)	NC_000010.10:g.75849894C>T	(Likely) benign	1 lab	9371b0926a
14:23901011 MYH7 C>T	14	23901011	23901011	C	T	MYH7	c.598G>A	NM_000257.4	NP_000248.2:p.(Ala200Thr)	NC_000014.8:g.23901011C>T	VUS	1 lab	9373462453
X:135278951 FHL1 C>G	X	135278951	135278951	C	G	FHL1	c.-11C>G	NM_001159701.2	NP_001153173.1:p.?	NC_000023.10:g.135278951C>G	(Likely) benign	1 lab	93785f67a9
16:17211540 XYLT1 C>T	16	17211540	17211540	C	T	XYLT1	c.2520G>A	NM_022166.4	NP_071449.1:p.(Ala840=)	NC_000016.9:g.17211540C>T	(Likely) benign	1 lab	93798501ba
17:48277521 COL1A1 T>C	17	48277521	48277521	T	C	COL1A1	c.104-213A>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48277521T>C	(Likely) benign	1 lab	937cc0976a
2:44050687 ABCG5 C>T	2	44050687	44050687	C	T	ABCG5	c.1324+365G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44050687C>T	(Likely) benign	1 lab	9382339835
1:201330510 TNNT2 G>GGGTGAGAATGGGGAGGTCC	1	201330510	201330529	G	GGGTGAGAATGGGGAGGTCC	TNNT2	c.690-32_690-14dup	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201330511_201330529dup	(Likely) benign	1 lab	9384775a01
19:8197958 FBN3 C>T	19	8197958	8197958	C	T	FBN3	c.1624G>A	NM_032447.5	NP_115823.3:p.(Val542Ile)	NC_000019.9:g.8197958C>T	(Likely) benign	1 lab	9409e7abf9
5:148442542 SH3TC2 CG>C	5	148442542	148442545	CG	C	SH3TC2	c.43del	NM_024577.4	NP_078853.2:p.(Arg15GlyfsTer19)	NC_000005.9:g.148442545del	(Likely) pathogenic	1 lab	938909be28
7:30054363 FKBP14 G>A	7	30054363	30054363	G	A	FKBP14	c.624C>T	NM_017946.4	NP_060416.1:p.(His208=)	NC_000007.13:g.30054363G>A	(Likely) benign	1 lab	938c8ea98f
3:170244628 SLC7A14 T>A	3	170244628	170244628	T	A	SLC7A14	c.98A>T	NM_020949.3	NP_066000.2:p.(Glu33Val)	NC_000003.11:g.170244628T>A	VUS	1 lab	93986ae8f9
2:21231270 APOB G>C	2	21231270	21231270	G	C	APOB	c.8470C>G	NM_000384.3	NP_000375.3:p.(Leu2824Val)	NC_000002.11:g.21231270G>C	VUS	1 lab	939c338ba2
5:138268614 CTNNA1 G>A	5	138268614	138268614	G	A	CTNNA1	c.2433+213G>A	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138268614G>A	(Likely) benign	1 lab	939c87c6b2
2:179614137 TTN T>C	2	179614137	179614137	T	C	TTN	c.12990A>G	NM_133379.5	NP_596870.2:p.(Arg4330=)	NC_000002.11:g.179614137T>C	(Likely) benign	1 lab	939d8ecdbc
10:102586747 PAX2 C>T	10	102586747	102586747	C	T	PAX2	c.1105-19C>T	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102586747C>T	(Likely) benign	1 lab	93a228e44a
14:75515522 MLH3 G>A	14	75515522	75515522	G	A	MLH3	c.837C>T	NM_001040108.2	NP_001035197.1:p.(Cys279=)	NC_000014.8:g.75515522G>A	(Likely) benign	1 lab	93a3a268cd
4:155505987 FGA T>TA	4	155505987	155505997	T	TA	FGA	c.1892-3dup	NM_000508.5	NP_000499.1:p.?	NC_000004.11:g.155505997dup	(Likely) benign	1 lab	93b03f2ccc
2:44047530 ABCG5 C>T	2	44047530	44047530	C	T	ABCG5	c.1464-291G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047530C>T	(Likely) benign	1 lab	93b3f27ba8
14:81610069 TSHR C>G	14	81610069	81610069	C	G	TSHR	c.1667C>G	NM_000369.5	NP_000360.2:p.(Pro556Arg)	NC_000014.8:g.81610069C>G	VUS	1 lab	93b9683790
17:29553463 NF1 C>G	17	29553463	29553463	C	G	NF1	c.2012C>G	NM_000267.3	NP_000258.1:p.(Ala671Gly)	NC_000017.10:g.29553463C>G	(Likely) benign	1 lab	93ba2d2247
22:28847173 TTC28 Ref too long to show for this DEL>A	22	28847173	28944100	Ref too long to show for this DEL	A	TTC28	c.381+81442_382-144543del	NM_001145418.2	NP_001138890.1:p.?	NC_000022.10:g.28847176_28944100del	VUS	1 lab	93bb838ef1
7:128038654 IMPDH1 G>A	7	128038654	128038654	G	A	IMPDH1	c.888C>T	NM_000883.4	NP_000874.2:p.(Ile296=)	NC_000007.13:g.128038654G>A	(Likely) benign	1 lab	93c069c868
17:33445649 RAD51D G>T	17	33445649	33445649	G	T	RAD51D	c.145-11C>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33445649G>T	(Likely) benign	1 lab	93c2aa7c11
18:34349252 FHOD3 G>C	18	34349252	34349252	G	C	FHOD3	c.4649G>C	NM_001281740.3	NP_001268669.1:p.(Gly1550Ala)	NC_000018.9:g.34349252G>C	(Likely) benign	1 lab	93c3083575
2:48033775 MSH6 C>T	2	48033775	48033775	C	T	MSH6	c.3986C>T	NM_000179.3	NP_000170.1:p.(Ser1329Leu)	NC_000002.11:g.48033775C>T	(Likely) benign	1 lab	93c7687504
10:87617921 MISSING Ref too long to show for this DEL>A	10	87617921	89981850	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.87617922_89981850del	(Likely) pathogenic	1 lab	93c7b79d8d
2:179640744 TTN A>G	2	179640744	179640744	A	G	TTN	c.5847T>C	NM_133378.4	NP_596869.4:p.(Phe1949=)	NC_000002.11:g.179640744A>G	(Likely) benign	1 lab	93d0618153
1:180793873 XPR1 C>A	1	180793873	180793873	C	A	XPR1	c.764-16C>A	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180793873C>A	(Likely) benign	1 lab	93d0c7881c
15:65946155 SLC24A1 T>C	15	65946155	65946155	T	C	SLC24A1	c.3051-13T>C	NM_004727.3	NP_004718.1:p.?	NC_000015.9:g.65946155T>C	(Likely) benign	1 lab	93d1c7d32a
12:21377649 SLCO1B1 A>G	12	21377649	21377649	A	G	SLCO1B1	c.1748-7A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21377649A>G	(Likely) benign	1 lab	93d1d92596
7:128488016 FLNC G>A	7	128488016	128488016	G	A	FLNC	c.4474G>A	NM_001458.5	NP_001449.3:p.(Glu1492Lys)	NC_000007.13:g.128488016G>A	VUS	1 lab	93d51f9730
6:7585612 DSP A>T	6	7585612	7585612	A	T	DSP	c.8117A>T	NM_004415.4	NP_004406.2:p.(Lys2706Met)	NC_000006.11:g.7585612A>T	VUS	1 lab	93d52227f4
4:190876293 FRG1 C>A	4	190876293	190876293	C	A	FRG1	c.419C>A	NM_004477.3	NP_004468.1:p.(Pro140Gln)	NC_000004.11:g.190876293C>A	(Likely) benign	1 lab	93df940c84
11:116661215 APOA5 C>A	11	116661215	116661215	C	A	APOA5	c.730G>T	NM_052968.5	NP_443200.2:p.(Ala244Ser)	NC_000011.9:g.116661215C>A	VUS	1 lab	93e0ccb02d
2:44100970 ABCG8 T>A	2	44100970	44100970	T	A	ABCG8	c.1256T>A	NM_022437.3	NP_071882.1:p.(Ile419Asn)	NC_000002.11:g.44100970T>A	VUS	1 lab	93e1892804
1:74819029 TNNI3K A>G	1	74819029	74819029	A	G	TNNI3K	c.1012A>G	NM_015978.3	NP_057062.1:p.(Arg338Gly)	NC_000001.10:g.74819029A>G	VUS	1 lab	93e24d24c2
17:44109472 KANSL1 G>A	17	44109472	44109472	G	A	KANSL1	c.3031C>T	NM_001193466.2	NP_001180395.1:p.(Arg1011Ter)	NC_000017.10:g.44109472G>A	(Likely) pathogenic	1 lab	93e745d422
2:241666333 KIF1A C>T	2	241666333	241666333	C	T	KIF1A	c.4107G>A	NM_001379631.1	NP_001366560.1:p.(Ala1369=)	NC_000002.11:g.241666333C>T	(Likely) benign	1 lab	93e7ed26a9
3:38627153 SCN5A G>GGTGTGTGTGTGTGTGTGTGTGTCT	3	38627153	38627165	G	GGTGTGTGTGTGTGTGTGTGTGTCT	SCN5A	c.2787+28_2787+29insAGACACACACACACACACACACAC	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627164_38627165insTGTGTGTGTGTCTGTGTGTGTGTG	(Likely) benign	1 lab	93e9aecf6e
1:55518071 PCSK9 G>A	1	55518071	55518071	G	A	PCSK9	c.644G>A	NM_174936.4	NP_777596.2:p.(Arg215His)	NC_000001.10:g.55518071G>A	(Likely) pathogenic	1 lab	93efe6ffca
16:16244644 ABCC6 G>A	16	16244644	16244644	G	A	ABCC6	c.3867-15C>T	NM_001351800.1	NP_001338729.1:p.?	NC_000016.9:g.16244644G>A	(Likely) benign	1 lab	93f3e7a8b1
11:65822606 SF3B2 G>A	11	65822606	65822606	G	A	SF3B2	c.318G>A	NM_006842.3	NP_006833.2:p.(Pro106=)	NC_000011.9:g.65822606G>A	(Likely) benign	1 lab	93f7d0ec09
1:180241081 LHX4 CAGG>C	1	180241081	180241086	CAGG	C	LHX4	c.721_723del	NM_033343.4	NP_203129.1:p.(Glu241del)	NC_000001.10:g.180241084_180241086del	VUS	1 lab	94032d84e9
4:56225674 SRD5A3 T>C	4	56225674	56225674	T	C	SRD5A3	c.364+19T>C	NM_024592.5	NP_078868.1:p.?	NC_000004.11:g.56225674T>C	(Likely) benign	1 lab	9403bc1766
2:21232845 APOB C>G	2	21232845	21232845	C	G	APOB	c.6895G>C	NM_000384.3	NP_000375.3:p.(Asp2299His)	NC_000002.11:g.21232845C>G	(Likely) benign	1 lab	9412f59b63
X:2778075 GYG2 CG>C	X	2778075	2778080	CG	C	GYG2	c.904del	NM_003918.3	NP_003909.2:p.(Glu302LysfsTer61)	NC_000023.10:g.2778080del	VUS	1 lab	9414a2c310
1:201337322 TNNT2 G>A	1	201337322	201337322	G	A	TNNT2	c.101C>T	NM_001276347.2	NP_001263276.1:p.(Ala34Val)	NC_000001.10:g.201337322G>A	VUS	1 lab	9415d51406
19:11222195 LDLR G>A	19	11222195	11222195	G	A	LDLR	c.1066G>A	NM_000527.5	NP_000518.1:p.(Asp356Asn)	NC_000019.9:g.11222195G>A	(Likely) pathogenic	1 lab	941eb656d4
2:220500426 SLC4A3 A>G	2	220500426	220500426	A	G	SLC4A3	c.2085A>G	NM_001326559.2	NP_001313488.2:p.(Ala695=)	NC_000002.11:g.220500426A>G	(Likely) benign	1 lab	941fc40329
6:32010272 TNXB T>A	6	32010272	32010272	T	A	TNXB	c.12164A>T	NM_019105.8	NP_061978.6:p.(Asn4055Ile)	NC_000006.11:g.32010272T>A	(Likely) benign	1 lab	9425d675d8
9:100617286 FOXE1 G>A	9	100617286	100617286	G	A	FOXE1	c.1090G>A	NM_004473.4	NP_004464.2:p.(Gly364Ser)	NC_000009.11:g.100617286G>A	(Likely) benign	1 lab	9427cb4fd7
11:2683314 KCNQ1 G>A	11	2683314	2683314	G	A	KCNQ1	c.1514+3G>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683314G>A	(Likely) benign	1 lab	942bec4edf
15:62165577 VPS13C G>A	15	62165577	62165577	G	A	VPS13C	c.10446C>T	NM_001018088.3	NP_001018098.1:p.(Thr3482=)	NC_000015.9:g.62165577G>A	(Likely) benign	1 lab	9432c7f29e
X:99713110 MISSING C>Alt too long to show for this DUP	X	99713110	100238081	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.99713112_100238081dup	VUS	1 lab	943361b710
2:179460350 TTN G>A	2	179460350	179460350	G	A	TTN	c.57731C>T	NM_001267550.2	NP_001254479.2:p.(Thr19244Ile)	NC_000002.11:g.179460350G>A	VUS	1 lab	9433fb1df1
2:179424558 TTN-AS1 C>T	2	179424558	179424558	C	T	TTN-AS1	n.2043+17470C>T	NR_038272.1		NC_000002.11:g.179424558C>T	(Likely) benign	1 lab	9438a270c2
16:3778476 CREBBP T>C	16	3778476	3778476	T	C	CREBBP	c.6572A>G	NM_004380.3	NP_004371.2:p.(Glu2191Gly)	NC_000016.9:g.3778476T>C	VUS	1 lab	943bcafa42
4:111084947 MISSING A>Alt too long to show for this DUP	4	111084947	111166702	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.111084948_111166702dup	VUS	1 lab	9440eeb6a6
7:5780887 RNF216 C>T	7	5780887	5780887	C	T	RNF216	c.761G>A	NM_207111.4	NP_996994.1:p.(Arg254Gln)	NC_000007.13:g.5780887C>T	VUS	1 lab	9441e472ec
18:57103126 CCBE1 G>A	18	57103126	57103126	G	A	CCBE1	c.*14C>T	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57103126G>A	(Likely) benign	1 lab	944848f14d
19:50784953 MYH14 C>T	19	50784953	50784953	C	T	MYH14	c.4393C>T	NM_001145809.2	NP_001139281.1:p.(Arg1465Cys)	NC_000019.9:g.50784953C>T	VUS	1 lab	9448ac66d9
20:21227190 KIZ T>C	20	21227190	21227190	T	C	KIZ	c.1689T>C	NM_001163022.3	NP_001156494.1:p.(Asp563=)	NC_000020.10:g.21227190T>C	(Likely) benign	1 lab	944cc0b8fe
1:103471456 COL11A1 C>CCATCAT	1	103471456	103471488	C	CCATCAT	COL11A1	c.1828-15_1828-10dup	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103471483_103471488dup	(Likely) benign	1 lab	94515f0cfd
11:116661243 APOA5 C>T	11	116661243	116661243	C	T	APOA5	c.702G>A	NM_052968.5	NP_443200.2:p.(Lys234=)	NC_000011.9:g.116661243C>T	(Likely) benign	1 lab	9452c6c635
1:156845934 NTRK1 G>A	1	156845934	156845934	G	A	NTRK1	c.1564G>A	NM_002529.4	NP_002520.2:p.(Gly522Arg)	NC_000001.10:g.156845934G>A	(Likely) pathogenic	1 lab	94542478d0
9:34371454 MYORG G>C	9	34371454	34371454	G	C	MYORG	c.1488C>G	NM_020702.5	NP_065753.2:p.(Pro496=)	NC_000009.11:g.34371454G>C	(Likely) benign	1 lab	9457930b4d
12:125292303 SCARB1 G>A	12	125292303	125292303	G	A	SCARB1	c.1009+4C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125292303G>A	VUS	1 lab	945f803c32
19:7623941 PNPLA6 G>A	19	7623941	7623941	G	A	PNPLA6	c.3633G>A	NM_001166111.2	NP_001159583.1:p.(Gln1211=)	NC_000019.9:g.7623941G>A	(Likely) benign	1 lab	94656b7479
2:1440152 TPO A>G	2	1440152	1440152	A	G	TPO	c.478A>G	NM_001206744.2	NP_001193673.1:p.(Asn160Asp)	NC_000002.11:g.1440152A>G	VUS	1 lab	946c2e477d
14:45665611 FANCM T>C	14	45665611	45665611	T	C	FANCM	c.5577T>C	NM_020937.4	NP_065988.1:p.(Asn1859=)	NC_000014.8:g.45665611T>C	(Likely) benign	1 lab	946ca4af18
12:124831208 NCOR2 C>T	12	124831208	124831208	C	T	NCOR2	c.4231G>A	NM_001206654.2	NP_001193583.1:p.(Ala1411Thr)	NC_000012.11:g.124831208C>T	VUS	1 lab	9475a320e7
12:82109334 MISSING C>Alt too long to show for this DUP	12	82109334	82872994	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.82109335_82872994dup	VUS	1 lab	9475fc01dd
1:66031284 LEPR T>C	1	66031284	66031284	T	C	LEPR	c.36T>C	NM_001003679.3	NP_001003679.1:p.(His12=)	NC_000001.10:g.66031284T>C	(Likely) benign	1 lab	947d37c99e
2:179647016 TTN A>T	2	179647016	179647016	A	T	TTN	c.3303T>A	NM_133378.4	NP_596869.4:p.(Phe1101Leu)	NC_000002.11:g.179647016A>T	VUS	1 lab	947e975b9e
3:38649641 SCN5A C>A	3	38649641	38649641	C	A	SCN5A	c.998+1G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38649641C>A	(Likely) pathogenic	1 lab	94805013d0
16:46762916 MYLK3 G>A	16	46762916	46762916	G	A	MYLK3	c.1772+20C>T	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46762916G>A	(Likely) benign	1 lab	9485cc41cb
1:214814552 CENPF A>G	1	214814552	214814552	A	G	CENPF	c.2871A>G	NM_016343.4	NP_057427.3:p.(Glu957=)	NC_000001.10:g.214814552A>G	(Likely) benign	1 lab	9486a2e92e
10:69926199 MYPN G>A	10	69926199	69926199	G	A	MYPN	c.1749G>A	NM_032578.4	NP_115967.2:p.(Val583=)	NC_000010.10:g.69926199G>A	(Likely) benign	1 lab	948a1f1f57
7:154596685 DPP6 C>T	7	154596685	154596685	C	T	DPP6	c.1547+11C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154596685C>T	(Likely) benign	1 lab	948b42caf8
6:64430631 EYS ACGATATTTAC>A	6	64430631	64430642	ACGATATTTAC	A	EYS	c.9349_9358del	NM_001292009.2	NP_001278938.1:p.(Val3117LeufsTer28)	NC_000006.11:g.64430633_64430642del	(Likely) pathogenic	1 lab	948c6cb9a9
19:10291576 DNMT1 T>C	19	10291576	10291576	T	C	DNMT1	c.118-15A>G	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10291576T>C	(Likely) benign	1 lab	948f3f5e72
20:62680496 SOX18 C>T	20	62680496	62680496	C	T	SOX18	c.358+16G>A	NM_018419.3	NP_060889.1:p.?	NC_000020.10:g.62680496C>T	(Likely) benign	1 lab	9490592489
X:53616663 HUWE1 C>A	X	53616663	53616663	C	A	HUWE1	c.4305G>T	NM_031407.7	NP_113584.3:p.(Glu1435Asp)	NC_000023.10:g.53616663C>A	VUS	1 lab	94977d4595
14:23885273 MYH7 G>A	14	23885273	23885273	G	A	MYH7	c.4893C>T	NM_000257.4	NP_000248.2:p.(His1631=)	NC_000014.8:g.23885273G>A	(Likely) benign	1 lab	94a48d7e1d
13:20656933 ZMYM2 C>CT	13	20656933	20656934	C	CT	ZMYM2	c.3582dup	NM_197968.4	NP_932072.1:p.(Arg1195SerfsTer3)	NC_000013.10:g.20656934dup	(Likely) pathogenic	1 lab	94a55a85e2
15:71507362 THSD4 C>T	15	71507362	71507362	C	T	THSD4	c.100-12C>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71507362C>T	(Likely) benign	1 lab	94a5cc2454
19:11231190 LDLR G>A	19	11231190	11231190	G	A	LDLR	c.2132G>A	NM_000527.5	NP_000518.1:p.(Cys711Tyr)	NC_000019.9:g.11231190G>A	(Likely) pathogenic	1 lab	94a65ba31c
3:38927684 SCN11A C>A	3	38927684	38927684	C	A	SCN11A	c.2881G>T	NM_001349253.2	NP_001336182.1:p.(Val961Phe)	NC_000003.11:g.38927684C>A	VUS	1 lab	94a7ee5a74
19:11233967 LDLR C>T	19	11233967	11233967	C	T	LDLR	c.2258C>T	NM_000527.5	NP_000518.1:p.(Pro753Leu)	NC_000019.9:g.11233967C>T	VUS	1 lab	94ac84ab1d
14:23886718 MYH7 G>A	14	23886718	23886718	G	A	MYH7	c.4347C>T	NM_000257.4	NP_000248.2:p.(Phe1449=)	NC_000014.8:g.23886718G>A	(Likely) benign	1 lab	94afac619c
11:47370478 MYBPC3 T>TATATATATATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	94b07a72f6
16:75664403 KARS1 C>A	16	75664403	75664403	C	A	KARS1	c.1426G>T	NM_001130089.2	NP_001123561.1:p.(Val476Phe)	NC_000016.9:g.75664403C>A	(Likely) pathogenic	1 lab	94b1f93285
3:98566434 MISSING Ref too long to show for this DEL>T	3	98566434	98621446	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.98566436_98621446del	VUS	1 lab	94b5ccf325
5:37173911 CPLANE1 ATC>A	5	37173911	37173914	ATC	A	CPLANE1	c.6115_6116del	NM_023073.4	NP_075561.3:p.(Asp2039LeufsTer6)	NC_000005.9:g.37173913_37173914del	(Likely) pathogenic	1 lab	94b6f0e420
2:44049795 ABCG5 C>T	2	44049795	44049795	C	T	ABCG5	c.1463+141G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049795C>T	(Likely) benign	1 lab	94be27b2eb
2:21266164 APOB C>T	2	21266164	21266164	C	T	APOB	c.121+221G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266164C>T	(Likely) benign	1 lab	94bf8e8a00
16:69369240 COG8 G>A	16	69369240	69369240	G	A	COG8	c.597C>T	NM_032382.5	NP_115758.3:p.(Asn199=)	NC_000016.9:g.69369240G>A	(Likely) benign	1 lab	94c0b19452
2:179487463 TTN G>A	2	179487463	179487463	G	A	TTN	c.44847C>T	NM_001267550.2	NP_001254479.2:p.(Thr14949=)	NC_000002.11:g.179487463G>A	(Likely) benign	1 lab	94c4cb5be3
20:540196 MISSING Ref too long to show for this DEL>T	20	540196	2208991	Ref too long to show for this DEL	T	MISSING				NC_000020.10:g.540200_2208991del	(Likely) pathogenic	1 lab	94c57a2cab
1:1167796 B3GALT6 C>T	1	1167796	1167796	C	T	B3GALT6	c.138C>T	NM_080605.4	NP_542172.2:p.(Ser46=)	NC_000001.10:g.1167796C>T	(Likely) benign	1 lab	94ca1cc9c3
11:74168411 KCNE3 A>G	11	74168411	74168411	A	G	KCNE3	c.198T>C	NM_005472.5	NP_005463.1:p.(Phe66=)	NC_000011.9:g.74168411A>G	(Likely) benign	1 lab	94cbbf7714
7:128475647 FLNC A>G	7	128475647	128475647	A	G	FLNC	c.601+19A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128475647A>G	(Likely) benign	1 lab	94ce7c7896
7:91714997 AKAP9 C>T	7	91714997	91714997	C	T	AKAP9	c.9021C>T	NM_005751.5	NP_005742.4:p.(Ala3007=)	NC_000007.13:g.91714997C>T	(Likely) benign	1 lab	94cea27d1d
19:11239883 LDLR G>T	19	11239883	11239883	G	T	LDLR	c.2390-306G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11239883G>T	(Likely) benign	1 lab	94d0223ef9
4:100532395 MTTP A>G	4	100532395	100532395	A	G	MTTP	c.1865A>G	NM_000253.4	NP_000244.2:p.(Glu622Gly)	NC_000004.11:g.100532395A>G	VUS	1 lab	94d1720c45
12:125270813 SCARB1 G>A	12	125270813	125270813	G	A	SCARB1	c.1491C>T	NM_001367981.1	NP_001354910.1:p.(Thr497=)	NC_000012.11:g.125270813G>A	(Likely) benign	1 lab	94d4c1cb4a
2:86968162 RMND5A T>C	2	86968162	86968162	T	C	RMND5A	c.255T>C	NM_022780.4	NP_073617.1:p.(Ser85=)	NC_000002.11:g.86968162T>C	(Likely) benign	1 lab	94d8193877
4:126412154 FAT4 G>A	4	126412154	126412154	G	A	FAT4	c.14183G>A	NM_001291303.3	NP_001278232.1:p.(Arg4728Lys)	NC_000004.11:g.126412154G>A	(Likely) benign	1 lab	94e0994b8c
15:48766843 FBN1 G>A	15	48766843	48766843	G	A	FBN1	c.3969C>T	NM_000138.5	NP_000129.3:p.(Ile1323=)	NC_000015.9:g.48766843G>A	(Likely) benign	1 lab	94e23ba5d8
3:142177892 ATR G>A	3	142177892	142177892	G	A	ATR	c.7411C>T	NM_001184.4	NP_001175.2:p.(Leu2471=)	NC_000003.11:g.142177892G>A	(Likely) benign	1 lab	94e432478a
16:21787309 MISSING Ref too long to show for this DEL>G	16	21787309	22721005	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.21787312_22721005del	(Likely) pathogenic	1 lab	94ea63916f
12:117964882 KSR2 C>T	12	117964882	117964882	C	T	KSR2	c.1845G>A	NM_173598.6	NP_775869.4:p.(Thr615=)	NC_000012.11:g.117964882C>T	(Likely) benign	1 lab	94ed160816
14:23855563 MYH6 C>T	14	23855563	23855563	C	T	MYH6	c.4920G>A	NM_002471.4	NP_002462.2:p.(Glu1640=)	NC_000014.8:g.23855563C>T	(Likely) benign	1 lab	94f263a9a0
6:32009793 TNXB G>A	6	32009793	32009793	G	A	TNXB	c.12459C>T	NM_019105.8	NP_061978.6:p.(Thr4153=)	NC_000006.11:g.32009793G>A	(Likely) benign	1 lab	94f3083d4f
2:179498736 TTN CACAA>C	2	179498736	179498745	CACAA	C	TTN	c.34782_34785del	NM_133378.4	NP_596869.4:p.(Cys11595AsnfsTer9)	NC_000002.11:g.179498742_179498745del	(Likely) pathogenic	1 lab	94f9a66560
2:179395693 TTN T>C	2	179395693	179395693	T	C	TTN	c.97945A>G	NM_133378.4	NP_596869.4:p.(Thr32649Ala)	NC_000002.11:g.179395693T>C	VUS	1 lab	94fc0755a3
8:87623851 CNGB3 C>T	8	87623851	87623851	C	T	CNGB3	c.1627G>A	NM_019098.5	NP_061971.3:p.(Val543Ile)	NC_000008.10:g.87623851C>T	(Likely) benign	1 lab	94fc53a432
11:2594119 KCNQ1 TCTC>T	11	2594119	2594125	TCTC	T	KCNQ1	c.828_830del	NM_000218.3	NP_000209.2:p.(Ser277del)	NC_000011.9:g.2594123_2594125del	(Likely) pathogenic	1 lab	9505014a5d
1:3328386 PRDM16 C>A	1	3328386	3328386	C	A	PRDM16	c.1625C>A	NM_022114.4	NP_071397.3:p.(Thr542Asn)	NC_000001.10:g.3328386C>A	(Likely) benign	1 lab	95052c64e2
19:45409993 APOE C>T	19	45409993	45409993	C	T	APOE	c.121+69C>T	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409993C>T	VUS	1 lab	950b2f538d
2:79896012 CTNNA2 Ref too long to show for this DEL>C	2	79896012	79911824	Ref too long to show for this DEL	C	CTNNA2	c.102+17229_102+33040del	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.79896013_79911824del	VUS	1 lab	950fc1d9f7
7:100274964 GNB2 T>C	7	100274964	100274964	T	C	GNB2	c.204-11T>C	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100274964T>C	(Likely) benign	1 lab	951001278b
1:156848916 NTRK1 C>G	1	156848916	156848916	C	G	NTRK1	c.1808C>G	NM_002529.4	NP_002520.2:p.(Ser603Cys)	NC_000001.10:g.156848916C>G	VUS	1 lab	95101ededb
19:40904454 PRX G>C	19	40904454	40904454	G	C	PRX	c.*10C>G	NM_020956.2	NP_066007.1:p.?	NC_000019.9:g.40904454G>C	(Likely) benign	1 lab	95156efbbf
19:11221458 LDLR G>A	19	11221458	11221458	G	A	LDLR	c.1060+11G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221458G>A	(Likely) benign	1 lab	95181a8654
15:62219414 VPS13C G>A	15	62219414	62219414	G	A	VPS13C	c.6392C>T	NM_001018088.3	NP_001018098.1:p.(Ser2131Leu)	NC_000015.9:g.62219414G>A	VUS	1 lab	9518646ff3
X:70444171 GJB1 A>T	X	70444171	70444171	A	T	GJB1	c.614A>T	NM_000166.6	NP_000157.1:p.(Asn205Ile)	NC_000023.10:g.70444171A>T	(Likely) pathogenic	1 lab	951c0934a9
17:63206768 RGS9 G>T	17	63206768	63206768	G	T	RGS9	c.1443G>T	NM_001165933.2	NP_001159405.1:p.(Leu481=)	NC_000017.10:g.63206768G>T	(Likely) benign	1 lab	951f7141b5
4:106345492 PPA2 A>G	4	106345492	106345492	A	G	PPA2	c.529-13T>C	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106345492A>G	(Likely) benign	1 lab	9525e99116
2:105977901 FHL2 G>C	2	105977901	105977901	G	C	FHL2	c.689-10C>G	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105977901G>C	(Likely) benign	1 lab	952822b1c2
14:23872660 MYH6 G>T	14	23872660	23872660	G	T	MYH6	c.800-5C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23872660G>T	(Likely) benign	1 lab	9528575eb1
16:57016113 CETP A>G	16	57016113	57016113	A	G	CETP	c.1285A>G	NM_000078.3	NP_000069.2:p.(Met429Val)	NC_000016.9:g.57016113A>G	VUS	1 lab	952a98dccc
X:8433340 VCX3B G>A	X	8433340	8433340	G	A	VCX3B	c.-146-6G>A	NM_001001888.4	NP_001001888.3:p.?	NC_000023.10:g.8433340G>A	(Likely) benign	1 lab	9530ef11f8
1:74663933 FPGT G>A	1	74663933	74663933	G	A	FPGT	c.-30G>A	NM_003838.5	NP_003829.4:p.?	NC_000001.10:g.74663933G>A	(Likely) benign	1 lab	953363b962
19:11238730 LDLR C>T	19	11238730	11238730	C	T	LDLR	c.2358C>T	NM_000527.5	NP_000518.1:p.(Ser786=)	NC_000019.9:g.11238730C>T	(Likely) benign	1 lab	953ffb1f08
12:106984364 RFX4 Ref too long to show for this DEL>A	12	106984364	107015681	Ref too long to show for this DEL	A	RFX4	c.43+7224_130+13020del	NM_213594.3	NP_998759.1:p.?	NC_000012.11:g.106984365_107015681del	VUS	1 lab	954df25002
13:32890686 BRCA2 C>G	13	32890686	32890686	C	G	BRCA2	c.67+22C>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32890686C>G	(Likely) benign	1 lab	955101374d
19:15298053 NOTCH3 C>T	19	15298053	15298053	C	T	NOTCH3	c.1703G>A	NM_000435.3	NP_000426.2:p.(Cys568Tyr)	NC_000019.9:g.15298053C>T	(Likely) pathogenic	1 lab	9557fef8b0
X:152771382 BGN G>A	X	152771382	152771382	G	A	BGN	c.413G>A	NM_001711.6	NP_001702.1:p.(Arg138Gln)	NC_000023.10:g.152771382G>A	(Likely) benign	1 lab	9558cde9ba
5:138643358 MATR3 C>G	5	138643358	138643358	C	G	MATR3	c.254C>G	NM_199189.3	NP_954659.1:p.(Ser85Cys)	NC_000005.9:g.138643358C>G	(Likely) pathogenic	1 lab	955bee55b4
11:64083328 ESRRA C>T	11	64083328	64083328	C	T	ESRRA	c.1162C>T	NM_004451.5	NP_004442.3:p.(Leu388Phe)	NC_000011.9:g.64083328C>T	(Likely) benign	1 lab	955d36801b
2:179588027 TTN A>G	2	179588027	179588027	A	G	TTN	c.21707T>C	NM_001267550.2	NP_001254479.2:p.(Leu7236Ser)	NC_000002.11:g.179588027A>G	VUS	1 lab	95653ba582
1:17331676 ATP13A2 A>G	1	17331676	17331676	A	G	ATP13A2	c.289-109T>C	NM_022089.4	NP_071372.1:p.?	NC_000001.10:g.17331676A>G	(Likely) benign	1 lab	95666af52f
19:35523494 SCN1B A>C	19	35523494	35523494	A	C	SCN1B	c.103A>C	NM_001037.5	NP_001028.1:p.(Thr35Pro)	NC_000019.9:g.35523494A>C	VUS	1 lab	9566cebb4c
3:130447530 PIK3R4 TAAAA>T	3	130447530	130447546	TAAAA	T	PIK3R4	c.1586-6_1586-3del	NM_014602.3	NP_055417.1:p.?	NC_000003.11:g.130447543_130447546del	(Likely) benign	1 lab	956a3a9bcf
X:70674038 TAF1 C>T	X	70674038	70674038	C	T	TAF1	c.4772C>T	NM_001286074.2	NP_001273003.2:p.(Thr1591Ile)	NC_000023.10:g.70674038C>T	VUS	1 lab	956eb63462
19:45412181 APOE G>T	19	45412181	45412181	G	T	APOE	c.706G>T	NM_001302688.2	NP_001289617.1:p.(Ala236Ser)	NC_000019.9:g.45412181G>T	VUS	1 lab	957528a199
10:75855496 VCL C>T	10	75855496	75855496	C	T	VCL	c.1626C>T	NM_003373.4	NP_003364.1:p.(Leu542=)	NC_000010.10:g.75855496C>T	(Likely) benign	1 lab	9576d51f82
12:21370057 SLCO1B1 T>C	12	21370057	21370057	T	C	SLCO1B1	c.1502T>C	NM_006446.5	NP_006437.3:p.(Phe501Ser)	NC_000012.11:g.21370057T>C	(Likely) benign	1 lab	957b0f94dc
11:68201119 LRP5 C>T	11	68201119	68201119	C	T	LRP5	c.3813C>T	NM_002335.4	NP_002326.2:p.(Ile1271=)	NC_000011.9:g.68201119C>T	(Likely) benign	1 lab	957c4b6c47
3:10183565 VHL G>A	3	10183565	10183565	G	A	VHL	c.34G>A	NM_000551.4	NP_000542.1:p.(Glu12Lys)	NC_000003.11:g.10183565G>A	(Likely) benign	1 lab	957c5e779e
6:41305453 MISSING C>Alt too long to show for this DUP	6	41305453	41386821	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.41305454_41386821dup	VUS	1 lab	957ce56616
2:207176038 ZDBF2 G>A	2	207176038	207176038	G	A	ZDBF2	c.6786G>A	NM_020923.3	NP_065974.1:p.(Ala2262=)	NC_000002.11:g.207176038G>A	(Likely) benign	1 lab	9583d2d06f
1:74819769 TNNI3K G>A	1	74819769	74819769	G	A	TNNI3K	c.1133G>A	NM_015978.3	NP_057062.1:p.(Gly378Asp)	NC_000001.10:g.74819769G>A	VUS	1 lab	958678417f
4:153273667 FBXW7 T>G	4	153273667	153273667	T	G	FBXW7	c.216A>C	NM_018315.5	NP_060785.2:p.(Thr72=)	NC_000004.11:g.153273667T>G	(Likely) benign	1 lab	958812edaa
16:46774050 MYLK3 G>A	16	46774050	46774050	G	A	MYLK3	c.487C>T	NM_182493.3	NP_872299.2:p.(Arg163Ter)	NC_000016.9:g.46774050G>A	VUS	1 lab	958b6f420f
X:71710806 HDAC8 G>A	X	71710806	71710806	G	A	HDAC8	c.601C>T	NM_001166419.2	NP_001159891.1:p.(His201Tyr)	NC_000023.10:g.71710806G>A	(Likely) pathogenic	1 lab	958fec4a92
2:179428034 TTN C>G	2	179428034	179428034	C	G	TTN	c.82825G>C	NM_001267550.2	NP_001254479.2:p.(Val27609Leu)	NC_000002.11:g.179428034C>G	VUS	1 lab	95901ed992
7:76984752 GSAP CA>C	7	76984752	76984766	CA	C	GSAP	c.1121-6del	NM_017439.4	NP_059135.2:p.?	NC_000007.13:g.76984766del	(Likely) benign	1 lab	9590d844d5
3:38662227 SCN5A A>G	3	38662227	38662227	A	G	SCN5A	c.611+107T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38662227A>G	(Likely) benign	1 lab	9591fc0c5b
4:88221114 MISSING A>Alt too long to show for this DUP	4	88221114	88347406	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.88221118_88347406dup	VUS	1 lab	9599fa0a2a
18:47096016 LIPG G>A	18	47096016	47096016	G	A	LIPG	c.571+98G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47096016G>A	(Likely) benign	1 lab	959ae90556
11:47370136 MYBPC3 G>A	11	47370136	47370136	G	A	MYBPC3	c.655-44C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370136G>A	(Likely) benign	1 lab	95a05aec38
2:21234922 APOB G>A	2	21234922	21234922	G	A	APOB	c.4818C>T	NM_000384.3	NP_000375.3:p.(Tyr1606=)	NC_000002.11:g.21234922G>A	(Likely) benign	1 lab	95a0b39a31
17:16256691 CENPV G>A	17	16256691	16256691	G	A	CENPV	c.60C>T	NM_181716.3	NP_859067.2:p.(Ala20=)	NC_000017.10:g.16256691G>A	(Likely) benign	1 lab	95a6186aec
18:44284628 ST8SIA5 C>T	18	44284628	44284628	C	T	ST8SIA5	c.240-1G>A	NM_001307986.2	NP_001294915.1:p.?	NC_000018.9:g.44284628C>T	VUS	1 lab	95a6969040
1:10335315 KIF1B G>A	1	10335315	10335315	G	A	KIF1B	c.865-171G>A	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10335315G>A	(Likely) benign	1 lab	95a8a06be6
4:47938626 CNGA1 G>A	4	47938626	47938626	G	A	CNGA1	c.1873C>T	NM_001142564.2	NP_001136036.2:p.(Arg625Ter)	NC_000004.11:g.47938626G>A	(Likely) pathogenic	1 lab	95aa15fd0f
1:19164456 MISSING Ref too long to show for this DEL>A	1	19164456	19232021	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.19164457_19232021del	VUS	1 lab	95ab397cf7
6:1611850 FOXC1 C>G	6	1611850	1611850	C	G	FOXC1	c.1170C>G	NM_001453.3	NP_001444.2:p.(Ala390=)	NC_000006.11:g.1611850C>G	(Likely) benign	1 lab	95abcb343a
9:137703306 COL5A1 A>G	9	137703306	137703306	A	G	COL5A1	c.3583-32A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137703306A>G	(Likely) benign	1 lab	95b4b2654c
19:50333181 MED25 C>T	19	50333181	50333181	C	T	MED25	c.664C>T	NM_030973.4	NP_112235.2:p.(Leu222=)	NC_000019.9:g.50333181C>T	(Likely) benign	1 lab	95bffdf593
19:10934460 DNM2 G>A	19	10934460	10934460	G	A	DNM2	c.1782-4G>A	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10934460G>A	(Likely) benign	1 lab	95c01abd55
13:32968977 BRCA2 T>TA	13	32968977	32968978	T	TA	BRCA2	c.9409dup	NM_000059.4	NP_000050.3:p.(Thr3137AsnfsTer13)	NC_000013.10:g.32968978dup	(Likely) pathogenic	1 lab	95c29ef60e
18:10671587 PIEZO2 T>C	18	10671587	10671587	T	C	PIEZO2	c.8196A>G	NM_022068.4	NP_071351.2:p.(Lys2732=)	NC_000018.9:g.10671587T>C	(Likely) benign	1 lab	95c87d79f8
1:235600709 TBCE A>G	1	235600709	235600709	A	G	TBCE	c.1189A>G	NM_001287801.2	NP_001274730.1:p.(Lys397Glu)	NC_000001.10:g.235600709A>G	VUS	1 lab	95d00f1e62
16:87054243 MISSING Ref too long to show for this DEL>T	16	87054243	87277805	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.87054245_87277805del	VUS	1 lab	95d1095b6e
12:53343007 KRT18 G>A	12	53343007	53343007	G	A	KRT18	c.50G>A	NM_000224.3	NP_000215.1:p.(Gly17Asp)	NC_000012.11:g.53343007G>A	(Likely) benign	1 lab	95d1554999
12:50501398 GPD1 G>A	12	50501398	50501398	G	A	GPD1	c.661G>A	NM_005276.4	NP_005267.2:p.(Asp221Asn)	NC_000012.11:g.50501398G>A	VUS	1 lab	95d27a5e32
8:144295463 GPIHBP1 CGGCTGCAGGACAGTGAGTAGGGTGAGTAGGGTAGTAGGACAGTGAGTAGGGTGAGTA>C	8	144295463	144295552	CGGCTGCAGGACAGTGAGTAGGGTGAGTAGGGTAGTAGGACAGTGAGTAGGGTGAGTA	C	GPIHBP1	c.53-201_53-145del	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295496_144295552del	(Likely) benign	1 lab	95d580f530
11:108163425 ATM G>T	11	108163425	108163425	G	T	ATM	c.4516G>T	NM_000051.4	NP_000042.3:p.(Val1506Leu)	NC_000011.9:g.108163425G>T	VUS	1 lab	95d6be9cb8
7:128490050 FLNC C>T	7	128490050	128490050	C	T	FLNC	c.5220C>T	NM_001458.5	NP_001449.3:p.(His1740=)	NC_000007.13:g.128490050C>T	(Likely) benign	1 lab	95d7cbaf93
2:71801440 DYSF G>A	2	71801440	71801440	G	A	DYSF	c.3338G>A	NM_001130981.2	NP_001124453.1:p.(Arg1113His)	NC_000002.11:g.71801440G>A	(Likely) benign	1 lab	95da1abaff
19:1226620 STK11 C>T	19	1226620	1226620	C	T	STK11	c.1276C>T	NM_000455.5	NP_000446.1:p.(Arg426Trp)	NC_000019.9:g.1226620C>T	VUS	1 lab	95dc49d201
19:45452812 APOC2 C>T	19	45452812	45452812	C	T	APOC2	c.*306C>T	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452812C>T	(Likely) benign	1 lab	95dcdfb6ec
2:21258600 APOB C>T	2	21258600	21258600	C	T	APOB	c.694-20G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21258600C>T	(Likely) benign	1 lab	95df442759
19:45412358 APOE C>G	19	45412358	45412358	C	G	APOE	c.883C>G	NM_001302688.2	NP_001289617.1:p.(Arg295Gly)	NC_000019.9:g.45412358C>G	VUS	1 lab	95df72d419
X:99662646 PCDH19 T>G	X	99662646	99662646	T	G	PCDH19	c.950A>C	NM_001184880.2	NP_001171809.1:p.(Gln317Pro)	NC_000023.10:g.99662646T>G	(Likely) pathogenic	1 lab	95dfdb80ee
2:179612337 TTN G>C	2	179612337	179612337	G	C	TTN	c.14790C>G	NM_133379.5	NP_596870.2:p.(Val4930=)	NC_000002.11:g.179612337G>C	(Likely) benign	1 lab	95e4555f35
1:8420508 RERE TG>T	1	8420508	8420511	TG	T	RERE	c.3058del	NM_012102.4	NP_036234.3:p.(His1020ThrfsTer61)	NC_000001.10:g.8420511del	VUS	1 lab	95e7a84829
1:103354492 COL11A1 C>T	1	103354492	103354492	C	T	COL11A1	c.4501-17G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103354492C>T	(Likely) benign	1 lab	95e82eff59
3:53796087 CACNA1D C>T	3	53796087	53796087	C	T	CACNA1D	c.3909C>T	NM_000720.4	NP_000711.1:p.(Asp1303=)	NC_000003.11:g.53796087C>T	(Likely) benign	1 lab	95e92db269
2:1497747 TPO C>T	2	1497747	1497747	C	T	TPO	c.1942C>T	NM_000547.6	NP_000538.3:p.(Arg648Trp)	NC_000002.11:g.1497747C>T	VUS	1 lab	95edf968b6
19:11224089 LDLR T>C	19	11224089	11224089	T	C	LDLR	c.1322T>C	NM_000527.5	NP_000518.1:p.(Ile441Thr)	NC_000019.9:g.11224089T>C	(Likely) pathogenic	1 lab	95f26e36d3
1:186122926 HMCN1 C>T	1	186122926	186122926	C	T	HMCN1	c.15063C>T	NM_031935.3	NP_114141.2:p.(Tyr5021=)	NC_000001.10:g.186122926C>T	(Likely) benign	1 lab	95f463edce
5:149323840 PDE6A C>T	5	149323840	149323840	C	T	PDE6A	c.397G>A	NM_000440.3	NP_000431.2:p.(Val133Ile)	NC_000005.9:g.149323840C>T	VUS	1 lab	95f485be80
19:11221459 LDLR G>A	19	11221459	11221459	G	A	LDLR	c.1060+12G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221459G>A	VUS	1 lab	95fba65eb1
1:207261901 MISSING Ref too long to show for this DEL>T	1	207261901	207277243	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.207261902_207277243del	VUS	1 lab	9605d4799c
1:12052711 MFN2 T>C	1	12052711	12052711	T	C	MFN2	c.275T>C	NM_014874.4	NP_055689.1:p.(Leu92Pro)	NC_000001.10:g.12052711T>C	(Likely) pathogenic	1 lab	960d98bb94
12:12871186 CDKN1B C>CT	12	12871186	12871187	C	CT	CDKN1B	c.413_414insT	NM_004064.5	NP_004055.1:p.(Asp139GlyfsTer66)	NC_000012.11:g.12871186_12871187insT	(Likely) pathogenic	1 lab	961120a4f6
2:114002163 PAX8 C>T	2	114002163	114002163	C	T	PAX8	c.230G>A	NM_003466.4	NP_003457.1:p.(Gly77Glu)	NC_000002.11:g.114002163C>T	VUS	1 lab	9611d6f48e
1:237942086 RYR2 G>A	1	237942086	237942086	G	A	RYR2	c.11880+16G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237942086G>A	(Likely) benign	1 lab	9618c47278
10:91007603 LIPA TTTTATTTATTTA>T	10	91007603	91007640	TTTTATTTATTTA	T	LIPA	c.-1-209_-1-198del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007629_91007640del	(Likely) benign	1 lab	9619024488
7:21813546 DNAH11 C>CA	7	21813546	21813550	C	CA	DNAH11	c.9269dup	NM_001277115.2	NP_001264044.1:p.(Asn3090LysfsTer2)	NC_000007.13:g.21813550dup	(Likely) pathogenic	1 lab	961a1fd967
11:65180839 MISSING Ref too long to show for this DEL>G	11	65180839	65209253	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.65180843_65209253del	VUS	1 lab	961b47db2d
X:134969238 MISSING Ref too long to show for this DEL>A	X	134969238	139681022	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.134969239_139681022del	(Likely) pathogenic	1 lab	9629853f5a
1:240371487 FMN2 C>T	1	240371487	240371487	C	T	FMN2	c.3387C>T	NM_001305424.2	NP_001292353.1:p.(Pro1129=)	NC_000001.10:g.240371487C>T	(Likely) benign	1 lab	962ad03283
5:133942725 SAR1B C>T	5	133942725	133942725	C	T	SAR1B	c.512G>A	NM_001033503.3	NP_001028675.1:p.(Arg171Gln)	NC_000005.9:g.133942725C>T	(Likely) pathogenic	1 lab	962cf0db27
11:47357555 MYBPC3 G>GT	11	47357555	47357556	G	GT	MYBPC3	c.2609_2610insA	NM_000256.3	NP_000247.2:p.(Ser871GlnfsTer13)	NC_000011.9:g.47357555_47357556insT	(Likely) pathogenic	1 lab	9638c67697
3:42727470 KLHL40 C>A	3	42727470	42727470	C	A	KLHL40	c.360C>A	NM_152393.4	NP_689606.2:p.(Cys120Ter)	NC_000003.11:g.42727470C>A	(Likely) pathogenic	1 lab	9641852953
12:3326247 MISSING G>Alt too long to show for this DUP	12	3326247	3588064	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.3326248_3588064dup	VUS	1 lab	964490a15a
3:148880109 HPS3 T>C	3	148880109	148880109	T	C	HPS3	c.2281T>C	NM_032383.5	NP_115759.2:p.(Ser761Pro)	NC_000003.11:g.148880109T>C	VUS	1 lab	9644b128c6
3:205450 MISSING Ref too long to show for this DEL>T	3	205450	2540440	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.205451_2540440del	(Likely) pathogenic	1 lab	9645a296d1
3:42728208 MISSING C>Alt too long to show for this DUP	3	42728208	42739092	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.42728209_42739092dup	VUS	1 lab	96486c073c
19:45410002 APOE G>A	19	45410002	45410002	G	A	APOE	c.121+78G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45410002G>A	(Likely) benign	1 lab	968fe488cc
11:116660813 APOA5 G>A	11	116660813	116660813	G	A	APOA5	c.*31C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660813G>A	(Likely) benign	1 lab	99b540724a
1:27874866 AHDC1 G>T	1	27874866	27874866	G	T	AHDC1	c.3761C>A	NM_001029882.3	NP_001025053.1:p.(Ser1254Tyr)	NC_000001.10:g.27874866G>T	(Likely) benign	1 lab	964d072978
19:11213449 LDLR C>T	19	11213449	11213449	C	T	LDLR	c.300C>T	NM_000527.5	NP_000518.1:p.(Asp100=)	NC_000019.9:g.11213449C>T	(Likely) benign	1 lab	964eadec76
7:138564372 KIAA1549 C>G	7	138564372	138564372	C	G	KIAA1549	c.4257G>C	NM_001164665.2	NP_001158137.1:p.(Thr1419=)	NC_000007.13:g.138564372C>G	(Likely) benign	1 lab	964efc66bb
8:68062029 CSPP1 A>G	8	68062029	68062029	A	G	CSPP1	c.1972A>G	NM_024790.6	NP_079066.5:p.(Arg658Gly)	NC_000008.10:g.68062029A>G	(Likely) benign	1 lab	96542d1c65
2:179659709 TTN GGCAGCACCC>G	2	179659709	179659726	GGCAGCACCC	G	TTN	c.1176_1184del	NM_001267550.2	NP_001254479.2:p.(Gly393_Ala395del)	NC_000002.11:g.179659718_179659726del	VUS	1 lab	9654efa09f
1:236922820 ACTN2 C>T	1	236922820	236922820	C	T	ACTN2	c.2302-204C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922820C>T	(Likely) benign	1 lab	96565d06b7
7:100850908 PLOD3 G>A	7	100850908	100850908	G	A	PLOD3	c.1886C>T	NM_001084.5	NP_001075.1:p.(Thr629Met)	NC_000007.13:g.100850908G>A	(Likely) benign	1 lab	966363e676
9:35561924 CIMIP2B A>C	9	35561924	35561924	A	C	CIMIP2B	c.862T>G	NM_001287239.2	NP_001274168.1:p.(Trp288Gly)	NC_000009.11:g.35561924A>C	(Likely) benign	1 lab	96673d17b9
1:155452123 ASH1L G>A	1	155452123	155452123	G	A	ASH1L	c.538C>T	NM_001366177.2	NP_001353106.1:p.(Pro180Ser)	NC_000001.10:g.155452123G>A	(Likely) benign	1 lab	9668866f0e
1:66036244 LEPR C>T	1	66036244	66036244	C	T	LEPR	c.129C>T	NM_001003679.3	NP_001003679.1:p.(Thr43=)	NC_000001.10:g.66036244C>T	(Likely) benign	1 lab	966ce35423
19:11213432 LDLR T>A	19	11213432	11213432	T	A	LDLR	c.283T>A	NM_000527.5	NP_000518.1:p.(Cys95Ser)	NC_000019.9:g.11213432T>A	(Likely) pathogenic	1 lab	966dc96313
7:21627817 DNAH11 C>T	7	21627817	21627817	C	T	DNAH11	c.1846C>T	NM_001277115.2	NP_001264044.1:p.(Gln616Ter)	NC_000007.13:g.21627817C>T	(Likely) pathogenic	1 lab	96729114c3
6:33391349 SYNGAP1 C>A	6	33391349	33391349	C	A	SYNGAP1	c.163C>A	NM_006772.3	NP_006763.2:p.(Gln55Lys)	NC_000006.11:g.33391349C>A	VUS	1 lab	968007f7b7
1:25870260 LDLRAP1 G>T	1	25870260	25870260	G	T	LDLRAP1	c.71G>T	NM_015627.3	NP_056442.2:p.(Gly24Val)	NC_000001.10:g.25870260G>T	VUS	1 lab	9680168033
2:179483171 TTN C>T	2	179483171	179483171	C	T	TTN	c.39310G>A	NM_133378.4	NP_596869.4:p.(Gly13104Ser)	NC_000002.11:g.179483171C>T	VUS	1 lab	96814519c8
X:100497936 DRP2 G>A	X	100497936	100497936	G	A	DRP2	c.1019G>A	NM_001939.3	NP_001930.2:p.(Arg340Gln)	NC_000023.10:g.100497936G>A	VUS	1 lab	96840f816d
19:54652265 CNOT3 C>T	19	54652265	54652265	C	T	CNOT3	c.1277C>T	NM_014516.4	NP_055331.1:p.(Ala426Val)	NC_000019.9:g.54652265C>T	(Likely) benign	1 lab	9684977b9f
X:76907620 ATRX C>T	X	76907620	76907620	C	T	ATRX	c.4541G>A	NM_000489.6	NP_000480.3:p.(Arg1514Gln)	NC_000023.10:g.76907620C>T	VUS	1 lab	9687d96f9d
16:920136 LMF1 G>C	16	920136	920136	G	C	LMF1	c.834-70C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920136G>C	(Likely) benign	1 lab	9689376b33
8:144695415 MISSING Ref too long to show for this DEL>G	8	144695415	144956256	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.144695416_144956256del	VUS	1 lab	968d17aeb5
17:1565185 PRPF8 T>C	17	1565185	1565185	T	C	PRPF8	c.4022+15A>G	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1565185T>C	(Likely) benign	1 lab	969889b1a0
19:11213440 LDLR C>T	19	11213440	11213440	C	T	LDLR	c.291C>T	NM_000527.5	NP_000518.1:p.(Asn97=)	NC_000019.9:g.11213440C>T	(Likely) benign	1 lab	96a8d7030f
12:977041 WNK1 A>G	12	977041	977041	A	G	WNK1	c.2149A>G	NM_001184985.2	NP_001171914.1:p.(Met717Val)	NC_000012.11:g.977041A>G	VUS	1 lab	96a9c7d6b2
21:44187794 MISSING T>Alt too long to show for this DUP	21	44187794	44270232	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.44187795_44270232dup	VUS	1 lab	96aaeeae7c
7:151432979 PRKAG2 G>C	7	151432979	151432979	G	C	PRKAG2	c.466+45259C>G	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151432979G>C	(Likely) benign	1 lab	96b142947e
18:28667657 DSC2 A>G	18	28667657	28667657	A	G	DSC2	c.750T>C	NM_004949.5	NP_004940.1:p.(Phe250=)	NC_000018.9:g.28667657A>G	(Likely) benign	1 lab	96b2a8b1c9
2:179487473 TTN C>T	2	179487473	179487473	C	T	TTN	c.44837G>A	NM_001267550.2	NP_001254479.2:p.(Arg14946Lys)	NC_000002.11:g.179487473C>T	VUS	1 lab	96b437e059
17:7808474 CHD3 C>T	17	7808474	7808474	C	T	CHD3	c.4306C>T	NM_001005271.3	NP_001005271.2:p.(Arg1436Cys)	NC_000017.10:g.7808474C>T	VUS	1 lab	96b62429c1
22:51160074 SHANK3 C>T	22	51160074	51160074	C	T	SHANK3	c.4038C>T	NM_001372044.2	NP_001358973.1:p.(Gly1346=)	NC_000022.10:g.51160074C>T	(Likely) benign	1 lab	96ba4c1e71
7:94040345 COL1A2 G>GT	7	94040345	94040361	G	GT	COL1A2	c.1252-7dup	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040361dup	(Likely) benign	1 lab	96bb023c33
2:21230551 APOB C>A	2	21230551	21230551	C	A	APOB	c.9189G>T	NM_000384.3	NP_000375.3:p.(Arg3063Ser)	NC_000002.11:g.21230551C>A	VUS	1 lab	96bc8cba08
6:126080921 HEY2 C>T	6	126080921	126080921	C	T	HEY2	c.987C>T	NM_012259.3	NP_036391.1:p.(Pro329=)	NC_000006.11:g.126080921C>T	(Likely) benign	1 lab	96be270f50
19:327260 MIER2 TA>T	19	327260	327276	TA	T	MIER2	c.370-5del	NM_017550.3	NP_060020.1:p.?	NC_000019.9:g.327276del	(Likely) benign	1 lab	96c0458255
7:23180582 KLHL7 C>T	7	23180582	23180582	C	T	KLHL7	c.618+19C>T	NM_001031710.3	NP_001026880.2:p.?	NC_000007.13:g.23180582C>T	(Likely) benign	1 lab	96c4decacb
13:32971116 BRCA2 A>G	13	32971116	32971116	A	G	BRCA2	c.9583A>G	NM_000059.4	NP_000050.3:p.(Thr3195Ala)	NC_000013.10:g.32971116A>G	(Likely) benign	1 lab	96d113a8d8
17:10447083 MYH2 AG>A	17	10447083	10447088	AG	A	MYH2	c.685del	NM_001100112.2	NP_001093582.1:p.(Leu229TyrfsTer11)	NC_000017.10:g.10447088del	(Likely) pathogenic	1 lab	96d2ae7528
3:123368288 MYLK C>T	3	123368288	123368288	C	T	MYLK	c.4289-247G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123368288C>T	(Likely) benign	1 lab	96e87542cc
3:101370529 ZBTB11 T>TAA	3	101370529	101370547	T	TAA	ZBTB11	c.2645-4_2645-3dup	NM_014415.4	NP_055230.2:p.?	NC_000003.11:g.101370546_101370547dup	(Likely) benign	1 lab	96e9548e40
11:47358040 MYBPC3 C>CAA	11	47358040	47358064	C	CAA	MYBPC3	c.2603-480_2603-479dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358063_47358064dup	(Likely) benign	1 lab	96e9ce57fe
12:7045465 ATN1 C>T	12	7045465	7045465	C	T	ATN1	c.1035C>T	NM_001007026.2	NP_001007027.1:p.(Gly345=)	NC_000012.11:g.7045465C>T	(Likely) benign	1 lab	96ea9e0b83
15:40462846 BUB1B T>C	15	40462846	40462846	T	C	BUB1B	c.348T>C	NM_001211.6	NP_001202.5:p.(Tyr116=)	NC_000015.9:g.40462846T>C	(Likely) benign	1 lab	96eaf14e95
3:129111569 MISSING G>Alt too long to show for this DUP	3	129111569	129216012	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.129111570_129216012dup	VUS	1 lab	96ed27d095
3:73479565 MISSING G>Alt too long to show for this DUP	3	73479565	74093611	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.73479566_74093611dup	VUS	1 lab	96edbbebc8
19:15311618 NOTCH3 TAGC>T	19	15311618	15311632	TAGC	T	NOTCH3	c.96_98del	NM_000435.3	NP_000426.2:p.(Leu33del)	NC_000019.9:g.15311630_15311632del	(Likely) benign	1 lab	96f193051c
1:35042286 MISSING Ref too long to show for this DEL>C	1	35042286	35569927	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.35042287_35569927del	VUS	1 lab	96f721f869
1:55509203 PCSK9 C>T	1	55509203	55509203	C	T	PCSK9	c.208-313C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509203C>T	(Likely) benign	1 lab	96fc6df53b
3:148901391 CP C>A	3	148901391	148901391	C	A	CP	c.2287G>T	NM_000096.4	NP_000087.2:p.(Val763Phe)	NC_000003.11:g.148901391C>A	(Likely) benign	1 lab	96fee5f555
8:19796787 LPL C>T	8	19796787	19796787	C	T	LPL	c.-165C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796787C>T	(Likely) benign	1 lab	96ffa8b211
3:129247637 RHO C>T	3	129247637	129247637	C	T	RHO	c.61C>T	NM_000539.3	NP_000530.1:p.(Arg21Cys)	NC_000003.11:g.129247637C>T	(Likely) pathogenic	1 lab	970f4202d0
X:107426982 COL4A6 C>CCTT	X	107426982	107426985	C	CCTT	COL4A6	c.1971_1972insAAG	NM_001287758.2	NP_001274687.1:p.(Glu657_Val658insLys)	NC_000023.10:g.107426984_107426985insTCT	(Likely) benign	1 lab	97116d3875
19:45411064 APOE G>A	19	45411064	45411064	G	A	APOE	c.169G>A	NM_001302688.2	NP_001289617.1:p.(Glu57Lys)	NC_000019.9:g.45411064G>A	VUS	1 lab	971244daea
16:943080 LMF1 G>T	16	943080	943080	G	T	LMF1	c.265-8C>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943080G>T	(Likely) benign	1 lab	971470a589
8:70830958 MISSING A>Alt too long to show for this DUP	8	70830958	70995410	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.70830960_70995410dup	VUS	1 lab	9714f1f40f
2:166245211 SCN2A G>A	2	166245211	166245211	G	A	SCN2A	c.4895G>A	NM_021007.3	NP_066287.2:p.(Arg1632Lys)	NC_000002.11:g.166245211G>A	(Likely) pathogenic	1 lab	9716eae40b
12:21294506 SLCO1B1 A>G	12	21294506	21294506	A	G	SLCO1B1	c.-3A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21294506A>G	(Likely) benign	1 lab	9717dc2871
3:48610507 COL7A1 G>A	3	48610507	48610507	G	A	COL7A1	c.6715-18C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48610507G>A	(Likely) benign	1 lab	971aa24412
18:47116858 LIPG C>T	18	47116858	47116858	C	T	LIPG	c.1482-13C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116858C>T	(Likely) benign	1 lab	971abdb36e
19:50726618 MYH14 C>T	19	50726618	50726618	C	T	MYH14	c.693+12C>T	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50726618C>T	(Likely) benign	1 lab	971acdd908
4:114279060 ANK2 A>G	4	114279060	114279060	A	G	ANK2	c.9286A>G	NM_001148.6	NP_001139.3:p.(Ser3096Gly)	NC_000004.11:g.114279060A>G	(Likely) benign	1 lab	97269102a8
19:10897272 DNM2 G>A	19	10897272	10897272	G	A	DNM2	c.882G>A	NM_001005360.3	NP_001005360.1:p.(Pro294=)	NC_000019.9:g.10897272G>A	(Likely) benign	1 lab	97278cd0c9
1:78398991 NEXN A>T	1	78398991	78398991	A	T	NEXN	c.1078A>T	NM_144573.4	NP_653174.3:p.(Met360Leu)	NC_000001.10:g.78398991A>T	VUS	1 lab	9729232342
2:21230817 APOB C>T	2	21230817	21230817	C	T	APOB	c.8923G>A	NM_000384.3	NP_000375.3:p.(Val2975Ile)	NC_000002.11:g.21230817C>T	VUS	1 lab	97298559f7
3:60993022 FHIT Ref too long to show for this DEL>T	3	60993022	61170599	Ref too long to show for this DEL	T	FHIT	c.-164+15692_-111+34696del	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.60993023_61170599del	VUS	1 lab	97325877e3
12:77419593 E2F7 A>G	12	77419593	77419593	A	G	E2F7	c.2310T>C	NM_203394.3	NP_976328.2:p.(Ser770=)	NC_000012.11:g.77419593A>G	(Likely) benign	1 lab	9735ffab8b
21:46876004 COL18A1 C>T	21	46876004	46876004	C	T	COL18A1	c.560C>T	NM_030582.4	NP_085059.2:p.(Thr187Ile)	NC_000021.8:g.46876004C>T	(Likely) benign	1 lab	9736256c87
11:47365362 MYBPC3 CAG>C	11	47365362	47365366	CAG	C	MYBPC3	c.1091-189_1091-188del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365365_47365366del	(Likely) benign	1 lab	973853a991
2:21231514 APOB C>T	2	21231514	21231514	C	T	APOB	c.8226G>A	NM_000384.3	NP_000375.3:p.(Gln2742=)	NC_000002.11:g.21231514C>T	(Likely) benign	1 lab	973858083d
16:57012154 CETP A>G	16	57012154	57012154	A	G	CETP	c.1133A>G	NM_000078.3	NP_000069.2:p.(Tyr378Cys)	NC_000016.9:g.57012154A>G	(Likely) benign	1 lab	973c155fa9
7:112101907 IFRD1 AT>A	7	112101907	112101918	AT	A	IFRD1	c.568-3del	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101918del	(Likely) benign	1 lab	973efabf62
2:179416812 TTN CAGTT>C	2	179416812	179416820	CAGTT	C	TTN	c.90811_90814del	NM_001267550.2	NP_001254479.2:p.(Asn30271GlyfsTer18)	NC_000002.11:g.179416817_179416820del	(Likely) pathogenic	1 lab	9747e008b2
3:38648234 SCN5A C>T	3	38648234	38648234	C	T	SCN5A	c.1066G>A	NM_198056.3	NP_932173.1:p.(Asp356Asn)	NC_000003.11:g.38648234C>T	(Likely) pathogenic	1 lab	974dab62ea
1:55524216 PCSK9 C>G	1	55524216	55524216	C	G	PCSK9	c.1399C>G	NM_174936.4	NP_777596.2:p.(Pro467Ala)	NC_000001.10:g.55524216C>G	(Likely) pathogenic	1 lab	97589cf4b1
2:179454860 TTN C>T	2	179454860	179454860	C	T	TTN	c.61592G>A	NM_001267550.2	NP_001254479.2:p.(Arg20531His)	NC_000002.11:g.179454860C>T	VUS	1 lab	97596c94de
5:148424095 SH3TC2 C>A	5	148424095	148424095	C	A	SH3TC2	c.385+1G>T	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148424095C>A	(Likely) pathogenic	1 lab	975b450b4b
19:55668422 TNNI3 G>A	19	55668422	55668422	G	A	TNNI3	c.104C>T	NM_000363.5	NP_000354.4:p.(Ala35Val)	NC_000019.9:g.55668422G>A	VUS	1 lab	975f04d2ac
2:179527715 TTN C>G	2	179527715	179527715	C	G	TTN	c.36768G>C	NM_001267550.2	NP_001254479.2:p.(Lys12256Asn)	NC_000002.11:g.179527715C>G	VUS	1 lab	976a477a55
1:150526406 ADAMTSL4 C>T	1	150526406	150526406	C	T	ADAMTSL4	c.939C>T	NM_019032.6	NP_061905.2:p.(Gly313=)	NC_000001.10:g.150526406C>T	(Likely) benign	1 lab	976aa59b2f
7:155295804 CNPY1 GA>G	7	155295804	155295818	GA	G	CNPY1	c.242-5del	NM_001369821.1	NP_001356750.1:p.?	NC_000007.13:g.155295818del	(Likely) benign	1 lab	976c374a56
3:49700582 BSN G>A	3	49700582	49700582	G	A	BSN	c.10991G>A	NM_003458.4	NP_003449.2:p.(Arg3664Gln)	NC_000003.11:g.49700582G>A	(Likely) benign	1 lab	9774dec543
6:131902519 ARG1 G>C	6	131902519	131902519	G	C	ARG1	c.465+1G>C	NM_000045.4	NP_000036.2:p.?	NC_000006.11:g.131902519G>C	(Likely) pathogenic	1 lab	977d54f632
8:30954294 WRN C>T	8	30954294	30954294	C	T	WRN	c.1909C>T	NM_000553.6	NP_000544.2:p.(Arg637Trp)	NC_000008.10:g.30954294C>T	VUS	1 lab	977ef4d171
20:57478863 GNAS C>A	20	57478863	57478863	C	A	GNAS	c.*293+17C>A	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57478863C>A	(Likely) benign	1 lab	977f678c45
8:144295181 GPIHBP1 G>A	8	144295181	144295181	G	A	GPIHBP1	c.39G>A	NM_178172.6	NP_835466.2:p.(Leu13=)	NC_000008.10:g.144295181G>A	(Likely) benign	1 lab	9781f904e0
1:100671866 DBT T>A	1	100671866	100671866	T	A	DBT	c.1210-9A>T	NM_001918.5	NP_001909.4:p.?	NC_000001.10:g.100671866T>A	(Likely) benign	1 lab	97824545e2
19:11348474 DOCK6 G>C	19	11348474	11348474	G	C	DOCK6	c.1833-19C>G	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11348474G>C	(Likely) benign	1 lab	97856d97c1
11:116706557 APOA1 G>A	11	116706557	116706557	G	A	APOA1	c.771C>T	NM_000039.3	NP_000030.1:p.(Leu257=)	NC_000011.9:g.116706557G>A	(Likely) benign	1 lab	978ac8f450
2:220283247 DES C>T	2	220283247	220283247	C	T	DES	c.63C>T	NM_001927.4	NP_001918.3:p.(Ala21=)	NC_000002.11:g.220283247C>T	(Likely) benign	1 lab	978f4c148e
11:71146498 DHCR7 A>G	11	71146498	71146498	A	G	DHCR7	c.1351T>C	NM_001360.3	NP_001351.2:p.(Cys451Arg)	NC_000011.9:g.71146498A>G	(Likely) pathogenic	1 lab	979582ba2d
5:127653788 FBN2 C>CT	5	127653788	127653789	C	CT	FBN2	c.4717+52dup	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127653789dup	(Likely) benign	1 lab	9796c50d56
1:55524339 PCSK9 C>CGTGTGT	1	55524339	55524391	C	CGTGTGT	PCSK9	c.1503+66_1503+71dup	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524386_55524391dup	(Likely) benign	1 lab	979d0abd44
17:7321004 NLGN2 G>C	17	7321004	7321004	G	C	NLGN2	c.2394G>C	NM_020795.4	NP_065846.1:p.(Pro798=)	NC_000017.10:g.7321004G>C	(Likely) benign	1 lab	979d197ac5
14:51162184 MISSING A>Alt too long to show for this DUP	14	51162184	51204117	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.51162185_51204117dup	VUS	1 lab	979d8b131d
2:179550336 TTN A>C	2	179550336	179550336	A	C	TTN	c.32312-11T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179550336A>C	VUS	1 lab	979e71e703
5:178513368 MISSING T>Alt too long to show for this DUP	5	178513368	179052185	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.178513370_179052185dup	VUS	1 lab	97a0f724be
8:10612181 MISSING Ref too long to show for this DEL>G	8	10612181	10644575	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.10612182_10644575del	VUS	1 lab	97a2c2c0a1
6:32038069 TNXB CAA>C	6	32038069	32038073	CAA	C	TNXB	c.5111_5112del	NM_019105.8	NP_061978.6:p.(Phe1704CysfsTer19)	NC_000006.11:g.32038072_32038073del	(Likely) pathogenic	1 lab	97a2cd4bdc
1:63066847 ANGPTL3 TAAGA>T	1	63066847	63066853	TAAGA	T	ANGPTL3	c.704_707del	NM_014495.4	NP_055310.1:p.(Arg235MetfsTer2)	NC_000001.10:g.63066850_63066853del	(Likely) pathogenic	1 lab	97a72f65b5
6:150719380 IYD C>T	6	150719380	150719380	C	T	IYD	c.*107C>T	NM_001164694.2	NP_001158166.1:p.?	NC_000006.11:g.150719380C>T	(Likely) benign	1 lab	97a89735bb
5:140056622 HARS1 G>A	5	140056622	140056622	G	A	HARS1	c.903C>T	NM_002109.6	NP_002100.2:p.(Asp301=)	NC_000005.9:g.140056622G>A	(Likely) benign	1 lab	97aa21b0ac
X:114845524 PLS3 T>C	X	114845524	114845524	T	C	PLS3	c.73+889T>C	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114845524T>C	(Likely) benign	1 lab	97b3a5b57f
1:68896967 RPE65 T>C	1	68896967	68896967	T	C	RPE65	c.1336A>G	NM_000329.3	NP_000320.1:p.(Arg446Gly)	NC_000001.10:g.68896967T>C	VUS	1 lab	97b91c2f8b
2:179441063 TTN A>T	2	179441063	179441063	A	T	TTN	c.69796T>A	NM_001267550.2	NP_001254479.2:p.(Tyr23266Asn)	NC_000002.11:g.179441063A>T	VUS	1 lab	97bd119236
19:50333791 MED25 T>C	19	50333791	50333791	T	C	MED25	c.843T>C	NM_030973.4	NP_112235.2:p.(Ala281=)	NC_000019.9:g.50333791T>C	(Likely) benign	1 lab	97bdd3b273
9:107581905 ABCA1 C>A	9	107581905	107581905	C	A	ABCA1	c.3203G>T	NM_005502.4	NP_005493.2:p.(Arg1068Leu)	NC_000009.11:g.107581905C>A	VUS	1 lab	97beb8265b
8:59409146 CYP7A1 G>T	8	59409146	59409146	G	T	CYP7A1	c.908+17C>A	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59409146G>T	(Likely) benign	1 lab	97bfa66753
7:94055072 COL1A2 G>C	7	94055072	94055072	G	C	COL1A2	c.2846G>C	NM_000089.4	NP_000080.2:p.(Gly949Ala)	NC_000007.13:g.94055072G>C	(Likely) pathogenic	1 lab	97bfac7e7c
1:244218176 ZBTB18 AC>A	1	244218176	244218177	AC	A	ZBTB18	c.1101del	NM_205768.3	NP_991331.1:p.(Tyr367Ter)	NC_000001.10:g.244218177del	(Likely) pathogenic	1 lab	97c0c4625a
16:929657 LMF1 G>A	16	929657	929657	G	A	LMF1	c.411C>T	NM_001352018.2	NP_001338947.1:p.(Asn137=)	NC_000016.9:g.929657G>A	(Likely) benign	1 lab	97c2d3b536
9:39360949 SPATA31A1 G>A	9	39360949	39360949	G	A	SPATA31A1	c.3187G>A	NM_001085452.4	NP_001078921.3:p.(Ala1063Thr)	NC_000009.11:g.39360949G>A	(Likely) benign	1 lab	97c2f5b382
2:232879670 DIS3L2 G>A	2	232879670	232879670	G	A	DIS3L2	c.33G>A	NM_152383.5	NP_689596.4:p.(Arg11=)	NC_000002.11:g.232879670G>A	(Likely) benign	1 lab	97c36631bb
2:179597842 TTN T>C	2	179597842	179597842	T	C	TTN	c.16061A>G	NM_001267550.2	NP_001254479.2:p.(Asp5354Gly)	NC_000002.11:g.179597842T>C	VUS	1 lab	97c7c9a3c7
6:56458728 DST T>C	6	56458728	56458728	T	C	DST	c.12459A>G	NM_001374736.1	NP_001361665.1:p.(Ser4153=)	NC_000006.11:g.56458728T>C	(Likely) benign	1 lab	97cbb3b786
19:54297303 NLRP12 T>TCA	19	54297303	54297305	T	TCA	NLRP12	c.3187_3188dup	NM_001277126.2	NP_001264055.1:p.(Ter1063CysextTer10)	NC_000019.9:g.54297304_54297305dup	VUS	1 lab	97cd9eb30e
2:1653374 PXDN G>A	2	1653374	1653374	G	A	PXDN	c.2178C>T	NM_012293.3	NP_036425.1:p.(His726=)	NC_000002.11:g.1653374G>A	(Likely) benign	1 lab	97d2479723
4:114244900 ANK2 T>C	4	114244900	114244900	T	C	ANK2	c.2900+5124T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114244900T>C	(Likely) benign	1 lab	97d3bc97a6
12:9033699 MISSING Ref too long to show for this DEL>G	12	9033699	9091796	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.9033700_9091796del	VUS	1 lab	97d55e4b73
2:179606377 TTN G>A	2	179606377	179606377	G	A	TTN	c.11583C>T	NM_001267550.2	NP_001254479.2:p.(Thr3861=)	NC_000002.11:g.179606377G>A	(Likely) benign	1 lab	97d720cd7f
9:107620863 ABCA1 C>T	9	107620863	107620863	C	T	ABCA1	c.660G>A	NM_005502.4	NP_005493.2:p.(Glu220=)	NC_000009.11:g.107620863C>T	(Likely) benign	1 lab	97d77e1653
19:11215914 LDLR A>G	19	11215914	11215914	A	G	LDLR	c.332A>G	NM_000527.5	NP_000518.1:p.(Gln111Arg)	NC_000019.9:g.11215914A>G	VUS	1 lab	97d7e154bd
2:179621281 TTN A>G	2	179621281	179621281	A	G	TTN	c.10303+2430T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179621281A>G	(Likely) benign	1 lab	97e0813c1a
7:91708655 AKAP9 A>G	7	91708655	91708655	A	G	AKAP9	c.7208A>G	NM_005751.5	NP_005742.4:p.(Glu2403Gly)	NC_000007.13:g.91708655A>G	(Likely) benign	1 lab	97e4e681d3
X:70443964 GJB1 T>C	X	70443964	70443964	T	C	GJB1	c.407T>C	NM_000166.6	NP_000157.1:p.(Val136Ala)	NC_000023.10:g.70443964T>C	(Likely) pathogenic	1 lab	97e6493e59
18:21124912 NPC1 C>CCCCA	18	21124912	21124916	C	CCCCA	NPC1	c.1947+11_1947+12insTGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124915_21124916insACCC	(Likely) benign	1 lab	97e80a2172
3:12626394 RAF1 T>C	3	12626394	12626394	T	C	RAF1	c.1755A>G	NM_002880.4	NP_002871.1:p.(Val585=)	NC_000003.11:g.12626394T>C	(Likely) benign	1 lab	97e8b3eab1
8:42294567 SLC20A2 T>TCA	8	42294567	42294568	T	TCA	SLC20A2	c.1462_1463insTG	NM_006749.5	NP_006740.1:p.(His488LeufsTer21)	NC_000008.10:g.42294567_42294568insCA	(Likely) pathogenic	1 lab	97eeedd3a8
17:38430094 WIPF2 T>C	17	38430094	38430094	T	C	WIPF2	c.1023T>C	NM_133264.5	NP_573571.1:p.(Pro341=)	NC_000017.10:g.38430094T>C	(Likely) benign	1 lab	97ef62af5f
1:152185812 HRNR C>CAG	1	152185812	152185814	C	CAG	HRNR	c.8291_8292dup	NM_001009931.3	NP_001009931.1:p.(Gly2765LeufsTer89)	NC_000001.10:g.152185813_152185814dup	(Likely) benign	1 lab	97f33b5375
3:8787196 CAV3 C>T	3	8787196	8787196	C	T	CAV3	c.115-16C>T	NM_033337.3	NP_203123.1:p.?	NC_000003.11:g.8787196C>T	(Likely) benign	1 lab	97f48c1fa4
8:92406021 SLC26A7 C>T	8	92406021	92406021	C	T	SLC26A7	c.1777-4C>T	NM_001282356.2	NP_001269285.1:p.?	NC_000008.10:g.92406021C>T	(Likely) benign	1 lab	97f6a8c204
1:197297580 CRB1 G>T	1	197297580	197297580	G	T	CRB1	c.99G>T	NM_201253.3	NP_957705.1:p.(Arg33Ser)	NC_000001.10:g.197297580G>T	(Likely) benign	1 lab	97f6e1f78d
2:179463349 TTN C>T	2	179463349	179463349	C	T	TTN	c.49291G>A	NM_133378.4	NP_596869.4:p.(Asp16431Asn)	NC_000002.11:g.179463349C>T	VUS	1 lab	97f80d6ebc
11:10800279 CTR9 A>G	11	10800279	10800279	A	G	CTR9	c.3149A>G	NM_014633.5	NP_055448.1:p.(Lys1050Arg)	NC_000011.9:g.10800279A>G	VUS	1 lab	980229a426
20:13098135 SPTLC3 T>C	20	13098135	13098135	T	C	SPTLC3	c.933-18T>C	NM_001349945.2	NP_001336874.1:p.?	NC_000020.10:g.13098135T>C	(Likely) benign	1 lab	98040f3046
19:50753936 MYH14 C>T	19	50753936	50753936	C	T	MYH14	c.1821C>T	NM_001145809.2	NP_001139281.1:p.(Tyr607=)	NC_000019.9:g.50753936C>T	(Likely) benign	1 lab	980b7a32ac
19:41135283 LTBP4 G>C	19	41135283	41135283	G	C	LTBP4	c.4721-18G>C	NM_001042544.1	NP_001036009.1:p.?	NC_000019.9:g.41135283G>C	(Likely) benign	1 lab	980cd8eb73
5:178513369 MISSING C>Alt too long to show for this DUP	5	178513369	179051679	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.178513372_179051679dup	VUS	1 lab	980dbdd107
1:152277090 FLG G>A	1	152277090	152277090	G	A	FLG	c.10272C>T	NM_002016.2	NP_002007.1:p.(His3424=)	NC_000001.10:g.152277090G>A	(Likely) benign	1 lab	9810c6f4a0
4:25676015 SLC34A2 G>A	4	25676015	25676015	G	A	SLC34A2	c.1311G>A	NM_001177999.2	NP_001171470.2:p.(Ser437=)	NC_000004.11:g.25676015G>A	(Likely) benign	1 lab	9812101779
3:187913131 LPP Ref too long to show for this DEL>T	3	187913131	187975435	Ref too long to show for this DEL	T	LPP	c.-189-30060_-67+32120del	NM_001375462.1	NP_001362391.1:p.?	NC_000003.11:g.187913133_187975435del	VUS	1 lab	981344e0ac
20:34078562 CEP250 A>G	20	34078562	34078562	A	G	CEP250	c.2686A>G	NM_007186.6	NP_009117.2:p.(Thr896Ala)	NC_000020.10:g.34078562A>G	(Likely) benign	1 lab	9815846942
15:58840751 LIPC G>A	15	58840751	58840751	G	A	LIPC	c.1031G>A	NM_000236.3	NP_000227.2:p.(Arg344Gln)	NC_000015.9:g.58840751G>A	VUS	1 lab	9817759ad8
1:227071471 PSEN2 C>T	1	227071471	227071471	C	T	PSEN2	c.207C>T	NM_000447.3	NP_000438.2:p.(Pro69=)	NC_000001.10:g.227071471C>T	(Likely) benign	1 lab	981fb0c695
21:46876173 COL18A1 C>T	21	46876173	46876173	C	T	COL18A1	c.729C>T	NM_130444.3	NP_569711.2:p.(Pro243=)	NC_000021.8:g.46876173C>T	(Likely) benign	1 lab	9820b717a6
9:107607822 ABCA1 G>A	9	107607822	107607822	G	A	ABCA1	c.749C>T	NM_005502.4	NP_005493.2:p.(Pro250Leu)	NC_000009.11:g.107607822G>A	(Likely) benign	1 lab	98211cf4fa
5:113575 MISSING Ref too long to show for this DEL>C	5	113575	4191575	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.113577_4191575del	(Likely) pathogenic	1 lab	982d9e4a82
9:107624383 ABCA1 T>C	9	107624383	107624383	T	C	ABCA1	c.422-302A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107624383T>C	(Likely) benign	1 lab	9832600f9f
18:47109120 LIPG T>G	18	47109120	47109120	T	G	LIPG	c.1157+268T>G	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47109120T>G	(Likely) benign	1 lab	983477ff91
9:140657894 EHMT1 G>Alt too long to show for this DUP	9	140657894	140685432	G	Alt too long to show for this DUP	EHMT1	c.1647+624_2505+10dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140657896_140685432dup	VUS	1 lab	983589a804
1:156837952 NTRK1 G>A	1	156837952	156837952	G	A	NTRK1	c.485G>A	NM_002529.4	NP_002520.2:p.(Trp162Ter)	NC_000001.10:g.156837952G>A	(Likely) pathogenic	1 lab	9835f7361b
8:100865852 VPS13B C>T	8	100865852	100865852	C	T	VPS13B	c.10310C>T	NM_017890.5	NP_060360.3:p.(Ala3437Val)	NC_000008.10:g.100865852C>T	(Likely) benign	1 lab	9838b26efd
5:151250068 MISSING Ref too long to show for this DEL>T	5	151250068	151541316	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.151250069_151541316del	VUS	1 lab	983ddc5345
22:26937195 TPST2 G>A	22	26937195	26937195	G	A	TPST2	c.564C>T	NM_001362923.2	NP_001349852.1:p.(Asp188=)	NC_000022.10:g.26937195G>A	(Likely) benign	1 lab	983ec6c067
2:44051254 ABCG5 T>A	2	44051254	44051254	T	A	ABCG5	c.1122A>T	NM_022436.3	NP_071881.1:p.(Arg374Ser)	NC_000002.11:g.44051254T>A	VUS	1 lab	984780a855
11:47370459 MYBPC3 T>TTATATATATATA	11	47370459	47370478	T	TTATATATATATA	MYBPC3	c.655-379_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370467_47370478dup	(Likely) benign	1 lab	984c45e5a5
12:110581197 IFT81 G>A	12	110581197	110581197	G	A	IFT81	c.792G>A	NM_014055.4	NP_054774.2:p.(Lys264=)	NC_000012.11:g.110581197G>A	(Likely) benign	1 lab	984c74a715
2:1653413 PXDN G>A	2	1653413	1653413	G	A	PXDN	c.2139C>T	NM_012293.3	NP_036425.1:p.(Tyr713=)	NC_000002.11:g.1653413G>A	(Likely) benign	1 lab	984c806835
16:84050134 SLC38A8 G>A	16	84050134	84050134	G	A	SLC38A8	c.1152C>T	NM_001080442.3	NP_001073911.1:p.(Phe384=)	NC_000016.9:g.84050134G>A	(Likely) benign	1 lab	984d1d6ff2
16:66405856 CDH5 T>Alt too long to show for this DUP	16	66405856	66433976	T	Alt too long to show for this DUP	CDH5	c.-20+5197_1592-698dup	NM_001795.5	NP_001786.2:p.?	NC_000016.9:g.66405858_66433976dup	VUS	1 lab	984f1ef1d2
5:127702192 FBN2 T>A	5	127702192	127702192	T	A	FBN2	c.2249-69A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127702192T>A	(Likely) benign	1 lab	98547d2b40
11:108128205 ATM T>C	11	108128205	108128205	T	C	ATM	c.2251-3T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108128205T>C	VUS	1 lab	985836ee0e
1:3328907 PRDM16 C>G	1	3328907	3328907	C	G	PRDM16	c.2146C>G	NM_022114.4	NP_071397.3:p.(Leu716Val)	NC_000001.10:g.3328907C>G	VUS	1 lab	9859cba9c7
10:88485952 LDB3 C>T	10	88485952	88485952	C	T	LDB3	c.2052C>T	NM_001171610.2	NP_001165081.1:p.(Gly684=)	NC_000010.10:g.88485952C>T	VUS	1 lab	985a958853
5:178413541 GRM6 G>A	5	178413541	178413541	G	A	GRM6	c.1714C>T	NM_000843.4	NP_000834.2:p.(Arg572Cys)	NC_000005.9:g.178413541G>A	VUS	1 lab	985b2e3881
7:128483933 FLNC C>T	7	128483933	128483933	C	T	FLNC	c.2895C>T	NM_001458.5	NP_001449.3:p.(Asp965=)	NC_000007.13:g.128483933C>T	(Likely) benign	1 lab	985cbe41df
10:68339139 CTNNA3 Ref too long to show for this DEL>A	10	68339139	68427954	Ref too long to show for this DEL	A	CTNNA3	c.1282-46412_1374+42310del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68339140_68427954del	VUS	1 lab	9861292cc4
2:163137983 IFIH1 T>C	2	163137983	163137983	T	C	IFIH1	c.1379A>G	NM_022168.4	NP_071451.2:p.(His460Arg)	NC_000002.11:g.163137983T>C	(Likely) benign	1 lab	9862a112b4
2:179544756 TTN G>A	2	179544756	179544756	G	A	TTN	c.33445C>T	NM_001267550.2	NP_001254479.2:p.(Pro11149Ser)	NC_000002.11:g.179544756G>A	VUS	1 lab	9866d79fc6
12:1963124 CACNA2D4 T>C	12	1963124	1963124	T	C	CACNA2D4	c.2239A>G	NM_172364.5	NP_758952.4:p.(Met747Val)	NC_000012.11:g.1963124T>C	(Likely) benign	1 lab	98673fb431
X:32716110 DMD C>T	X	32716110	32716110	C	T	DMD	c.468G>A	NM_004010.3	NP_004001.1:p.(Thr156=)	NC_000023.10:g.32716110C>T	(Likely) benign	1 lab	986c1e55d8
4:13371497 RAB28 G>A	4	13371497	13371497	G	A	RAB28	c.*3C>T	NM_004249.4	NP_004240.2:p.?	NC_000004.11:g.13371497G>A	(Likely) benign	1 lab	986c3dd911
3:121524344 IQCB1 Ref too long to show for this DEL>A	3	121524344	121536996	Ref too long to show for this DEL	A	IQCB1	c.393+7903_587+1846del	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121524346_121536996del	VUS	1 lab	987217a4cb
15:73622060 HCN4 C>T	15	73622060	73622060	C	T	HCN4	c.1444G>A	NM_005477.3	NP_005468.1:p.(Gly482Arg)	NC_000015.9:g.73622060C>T	(Likely) pathogenic	1 lab	9878d704a0
10:75857074 VCL C>A	10	75857074	75857074	C	A	VCL	c.1856C>A	NM_014000.3	NP_054706.1:p.(Ala619Glu)	NC_000010.10:g.75857074C>A	VUS	1 lab	98797c4de8
9:133760530 ABL1 G>A	9	133760530	133760530	G	A	ABL1	c.2853G>A	NM_005157.6	NP_005148.2:p.(Pro951=)	NC_000009.11:g.133760530G>A	(Likely) benign	1 lab	987b5ec55d
19:11223684 LDLR T>TG	19	11223684	11223685	T	TG	LDLR	c.1187-270_1187-269insG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223684_11223685insG	(Likely) benign	1 lab	987e768338
2:21250886 APOB G>C	2	21250886	21250886	G	C	APOB	c.1881C>G	NM_000384.3	NP_000375.3:p.(Val627=)	NC_000002.11:g.21250886G>C	(Likely) benign	1 lab	9883ec2f41
13:75884027 MISSING Ref too long to show for this DEL>T	13	75884027	76100152	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.75884030_76100152del	(Likely) pathogenic	1 lab	9885f523f7
2:21238351 APOB G>A	2	21238351	21238351	G	A	APOB	c.3399C>T	NM_000384.3	NP_000375.3:p.(Ala1133=)	NC_000002.11:g.21238351G>A	(Likely) benign	1 lab	988ca33c00
3:337898 MISSING T>Alt too long to show for this DUP	3	337898	527355	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.337899_527355dup	VUS	1 lab	988e3a4739
19:1713089 MISSING A>Alt too long to show for this DUP	19	1713089	2338773	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.1713092_2338773dup	VUS	1 lab	989146a0c5
10:3815692 MISSING Ref too long to show for this DEL>A	10	3815692	3829442	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3815694_3829442del	VUS	1 lab	9892192bdb
12:1996180 CACNA2D4 G>A	12	1996180	1996180	G	A	CACNA2D4	c.837C>T	NM_172364.5	NP_758952.4:p.(Arg279=)	NC_000012.11:g.1996180G>A	(Likely) benign	1 lab	98928389de
2:189853302 COL3A1 A>T	2	189853302	189853302	A	T	COL3A1	c.583-14A>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189853302A>T	(Likely) benign	1 lab	9896cd1010
5:135398870 TGFBI T>C	5	135398870	135398870	T	C	TGFBI	c.2012-5T>C	NM_000358.3	NP_000349.1:p.?	NC_000005.9:g.135398870T>C	(Likely) benign	1 lab	9897c94f9f
4:8847869 HMX1 C>T	4	8847869	8847869	C	T	HMX1	c.*3G>A	NM_001306142.2	NP_001293071.1:p.?	NC_000004.11:g.8847869C>T	(Likely) benign	1 lab	989923de07
11:75277661 SERPINH1 G>A	11	75277661	75277661	G	A	SERPINH1	c.267G>A	NM_001235.5	NP_001226.2:p.(Thr89=)	NC_000011.9:g.75277661G>A	(Likely) benign	1 lab	98a299856a
14:50605505 SOS2 AG>A	14	50605505	50605506	AG	A	SOS2	c.2786-4del	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50605506del	(Likely) benign	1 lab	98a4e30abb
16:11647436 LITAF G>A	16	11647436	11647436	G	A	LITAF	c.330C>T	NM_004862.4	NP_004853.2:p.(Asn110=)	NC_000016.9:g.11647436G>A	(Likely) benign	1 lab	98a832ec56
10:106907536 SORCS3 C>T	10	106907536	106907536	C	T	SORCS3	c.1464C>T	NM_014978.3	NP_055793.1:p.(Ile488=)	NC_000010.10:g.106907536C>T	(Likely) benign	1 lab	98aaa54657
11:47362014 MYBPC3 A>G	11	47362014	47362014	A	G	MYBPC3	c.1927+540T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362014A>G	(Likely) benign	1 lab	98abcf5267
8:19810853 LPL T>C	8	19810853	19810853	T	C	LPL	c.462T>C	NM_000237.3	NP_000228.1:p.(His154=)	NC_000008.10:g.19810853T>C	(Likely) benign	1 lab	98b12d248f
X:37013624 MISSING Ref too long to show for this DEL>C	X	37013624	37057428	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.37013625_37057428del	VUS	1 lab	98b821ca40
6:112454091 LAMA4 A>T	6	112454091	112454091	A	T	LAMA4	c.3698T>A	NM_001105206.3	NP_001098676.2:p.(Ile1233Lys)	NC_000006.11:g.112454091A>T	VUS	1 lab	98b89ed425
6:123592313 TRDN T>C	6	123592313	123592313	T	C	TRDN	c.1691A>G	NM_006073.4	NP_006064.2:p.(Gln564Arg)	NC_000006.11:g.123592313T>C	(Likely) benign	1 lab	98bd3f7bc2
8:19818770 LPL CAGG>C	8	19818770	19818773	CAGG	C	LPL	c.1322+177_1322+179del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818771_19818773del	(Likely) benign	1 lab	98bda78f8c
7:91624105 AKAP9 T>C	7	91624105	91624105	T	C	AKAP9	c.732+15T>C	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91624105T>C	(Likely) benign	1 lab	98c3f179d1
3:170198376 SLC7A14 C>T	3	170198376	170198376	C	T	SLC7A14	c.1695G>A	NM_020949.3	NP_066000.2:p.(Val565=)	NC_000003.11:g.170198376C>T	VUS	1 lab	98c54af0cd
15:58834820 LIPC G>A	15	58834820	58834820	G	A	LIPC	c.544G>A	NM_000236.3	NP_000227.2:p.(Gly182Ser)	NC_000015.9:g.58834820G>A	VUS	1 lab	98c5d3cd83
7:35289626 TBX20 G>A	7	35289626	35289626	G	A	TBX20	c.317C>T	NM_001077653.2	NP_001071121.1:p.(Thr106Ile)	NC_000007.13:g.35289626G>A	VUS	1 lab	98cb1ec323
6:32489927 HLA-DRB5 T>C	6	32489927	32489927	T	C	HLA-DRB5	c.125A>G	NM_002125.4	NP_002116.2:p.(Tyr42Cys)	NC_000006.11:g.32489927T>C	(Likely) benign	1 lab	98cec2a332
X:32687711 DMD Ref too long to show for this DEL>T	X	32687711	33058441	Ref too long to show for this DEL	T	DMD	c.32-20124_961-24443del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32687712_33058441del	(Likely) pathogenic	1 lab	98cec45cf3
10:69905260 MYPN C>T	10	69905260	69905260	C	T	MYPN	c.1107C>T	NM_032578.4	NP_115967.2:p.(Asp369=)	NC_000010.10:g.69905260C>T	(Likely) benign	1 lab	98d01fa49c
6:157528970 ARID1B ACT>A	6	157528970	157528976	ACT	A	ARID1B	c.6949_6950del	NM_001371656.1	NP_001358585.1:p.(Leu2317GlyfsTer7)	NC_000006.11:g.157528975_157528976del	(Likely) pathogenic	1 lab	98d50b5520
9:79888222 VPS13A A>G	9	79888222	79888222	A	G	VPS13A	c.2454A>G	NM_033305.3	NP_150648.2:p.(Thr818=)	NC_000009.11:g.79888222A>G	(Likely) benign	1 lab	98d5df5606
14:81644571 GTF2A1 A>Alt too long to show for this DUP	14	81644571	81668728	A	Alt too long to show for this DUP	GTF2A1	c.338-726_*1995dup	NM_015859.4	NP_056943.1:p.?	NC_000014.8:g.81644572_81668728dup	VUS	1 lab	98d6c60c6d
1:55509644 PCSK9 G>A	1	55509644	55509644	G	A	PCSK9	c.336G>A	NM_174936.4	NP_777596.2:p.(Leu112=)	NC_000001.10:g.55509644G>A	(Likely) benign	1 lab	98da5bd88c
12:2675603 CACNA1C G>A	12	2675603	2675603	G	A	CACNA1C	c.1524G>A	NM_199460.4	NP_955630.3:p.(Arg508=)	NC_000012.11:g.2675603G>A	(Likely) benign	1 lab	98de2a1a79
12:49689265 PRPH C>T	12	49689265	49689265	C	T	PRPH	c.282C>T	NM_006262.4	NP_006253.2:p.(Arg94=)	NC_000012.11:g.49689265C>T	(Likely) benign	1 lab	98deee6f62
2:215634005 BARD1 T>C	2	215634005	215634005	T	C	BARD1	c.1346A>G	NM_000465.4	NP_000456.2:p.(Gln449Arg)	NC_000002.11:g.215634005T>C	VUS	1 lab	98e0e4b7fa
1:16893777 NBPF1 T>C	1	16893777	16893777	T	C	NBPF1	c.2736A>G	NM_017940.6	NP_060410.3:p.(Ser912=)	NC_000001.10:g.16893777T>C	(Likely) benign	1 lab	98e182bd7d
1:115828996 NGF C>G	1	115828996	115828996	C	G	NGF	c.421G>C	NM_002506.3	NP_002497.2:p.(Val141Leu)	NC_000001.10:g.115828996C>G	VUS	1 lab	98e3746423
22:26936766 TPST2 G>A	22	26936766	26936766	G	A	TPST2	c.831C>T	NM_001008566.3	NP_001008566.1:p.(Val277=)	NC_000022.10:g.26936766G>A	(Likely) benign	1 lab	98e7ca6476
5:127710696 FBN2 A>G	5	127710696	127710696	A	G	FBN2	c.1973-253T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127710696A>G	(Likely) benign	1 lab	98f8b5fdc7
6:32800427 TAP2 C>T	6	32800427	32800427	C	T	TAP2	c.1120G>A	NM_001290043.2	NP_001276972.1:p.(Ala374Thr)	NC_000006.11:g.32800427C>T	(Likely) benign	1 lab	98fb692bf5
9:107571827 ABCA1 G>A	9	107571827	107571827	G	A	ABCA1	c.4194C>T	NM_005502.4	NP_005493.2:p.(Asp1398=)	NC_000009.11:g.107571827G>A	(Likely) benign	1 lab	98fbead12b
2:21242657 APOB G>A	2	21242657	21242657	G	A	APOB	c.2937C>T	NM_000384.3	NP_000375.3:p.(Gly979=)	NC_000002.11:g.21242657G>A	(Likely) benign	1 lab	98fcd1144e
6:112455662 LAMA4 G>A	6	112455662	112455662	G	A	LAMA4	c.3557+7C>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112455662G>A	VUS	1 lab	98fec0b13e
1:152189272 HRNR G>A	1	152189272	152189272	G	A	HRNR	c.4833C>T	NM_001009931.3	NP_001009931.1:p.(Tyr1611=)	NC_000001.10:g.152189272G>A	(Likely) benign	1 lab	99033ee73e
12:122261344 SETD1B C>T	12	122261344	122261344	C	T	SETD1B	c.4859C>T	NM_001353345.2	NP_001340274.1:p.(Pro1620Leu)	NC_000012.11:g.122261344C>T	(Likely) benign	1 lab	990769ee43
5:159839530 SLU7 TA>T	5	159839530	159839544	TA	T	SLU7	c.571-5del	NM_006425.5	NP_006416.3:p.?	NC_000005.9:g.159839544del	(Likely) benign	1 lab	990eae8854
16:921354 LMF1 C>T	16	921354	921354	C	T	LMF1	c.898-13G>A	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.921354C>T	VUS	1 lab	990f65d2e4
1:74818949 TNNI3K G>T	1	74818949	74818949	G	T	TNNI3K	c.933-1G>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74818949G>T	VUS	1 lab	9917a4ad49
1:156837937 NTRK1 G>A	1	156837937	156837937	G	A	NTRK1	c.470G>A	NM_002529.4	NP_002520.2:p.(Arg157His)	NC_000001.10:g.156837937G>A	VUS	1 lab	9917a7d549
6:100841393 SIM1 G>A	6	100841393	100841393	G	A	SIM1	c.1540C>T	NM_005068.3	NP_005059.2:p.(Pro514Ser)	NC_000006.11:g.100841393G>A	VUS	1 lab	9918354c5b
15:23892484 MAGEL2 C>T	15	23892484	23892484	C	T	MAGEL2	c.406G>A	NM_019066.5	NP_061939.3:p.(Gly136Arg)	NC_000015.9:g.23892484C>T	(Likely) benign	1 lab	991b444de3
7:26237449 MISSING A>Alt too long to show for this DUP	7	26237449	26249156	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.26237450_26249156dup	VUS	1 lab	991e32bbea
1:75009585 TNNI3K T>C	1	75009585	75009585	T	C	TNNI3K	c.2432-5T>C	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.75009585T>C	(Likely) benign	1 lab	992f27a718
19:45412526 APOE A>G	19	45412526	45412526	A	G	APOE	c.*19A>G	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45412526A>G	VUS	1 lab	992ff13574
18:25565697 CDH2 C>T	18	25565697	25565697	C	T	CDH2	c.1770G>A	NM_001792.5	NP_001783.2:p.(Thr590=)	NC_000018.9:g.25565697C>T	(Likely) benign	1 lab	993277c246
19:11230645 LDLR T>C	19	11230645	11230645	T	C	LDLR	c.1846-123T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230645T>C	(Likely) benign	1 lab	9935a8da5d
20:34092555 CEP250 A>G	20	34092555	34092555	A	G	CEP250	c.6358A>G	NM_007186.6	NP_009117.2:p.(Asn2120Asp)	NC_000020.10:g.34092555A>G	(Likely) benign	1 lab	9937b92ec3
12:21375306 SLCO1B1 GAAAAA>G	12	21375306	21375332	GAAAAA	G	SLCO1B1	c.1747+30_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375328_21375332del	(Likely) benign	1 lab	9939387b09
9:140728947 EHMT1 C>T	9	140728947	140728947	C	T	EHMT1	c.3687C>T	NM_024757.5	NP_079033.4:p.(Thr1229=)	NC_000009.11:g.140728947C>T	(Likely) benign	1 lab	993a039341
5:133959706 SAR1B A>G	5	133959706	133959706	A	G	SAR1B	c.4T>C	NM_001033503.3	NP_001028675.1:p.(Ser2Pro)	NC_000005.9:g.133959706A>G	(Likely) pathogenic	1 lab	99405049cd
7:45123210 NACAD G>A	7	45123210	45123210	G	A	NACAD	c.2569C>T	NM_001146334.2	NP_001139806.1:p.(Pro857Ser)	NC_000007.13:g.45123210G>A	(Likely) benign	1 lab	994683db82
7:6043644 PMS2 T>A	7	6043644	6043644	T	A	PMS2	c.209A>T	NM_000535.7	NP_000526.2:p.(Asp70Val)	NC_000007.13:g.6043644T>A	(Likely) pathogenic	1 lab	9947515755
10:135372802 SYCE1 C>T	10	135372802	135372802	C	T	SYCE1	c.196+3G>A	NM_001143763.2	NP_001137235.1:p.?	NC_000010.10:g.135372802C>T	(Likely) benign	1 lab	994916314d
4:114274585 ANK2 G>A	4	114274585	114274585	G	A	ANK2	c.4811G>A	NM_001148.6	NP_001139.3:p.(Arg1604Lys)	NC_000004.11:g.114274585G>A	(Likely) benign	1 lab	994b4dd576
4:55976947 KDR TA>T	4	55976947	55976960	TA	T	KDR	c.977-13del	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55976960del	(Likely) benign	1 lab	994bc59a40
11:108153448 ATM A>G	11	108153448	108153448	A	G	ATM	c.3588A>G	NM_000051.4	NP_000042.3:p.(Lys1196=)	NC_000011.9:g.108153448A>G	(Likely) benign	1 lab	995225ef73
1:236894623 ACTN2 AAAAT>A	1	236894623	236894627	AAAAT	A	ACTN2	c.-125+10_-125+13del	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236894624_236894627del	(Likely) benign	1 lab	9955108df1
9:94842328 SPTLC1 A>G	9	94842328	94842328	A	G	SPTLC1	c.397T>C	NM_006415.4	NP_006406.1:p.(Cys133Arg)	NC_000009.11:g.94842328A>G	(Likely) pathogenic	1 lab	99561bee2d
2:179482652 TTN A>G	2	179482652	179482652	A	G	TTN	c.47426T>C	NM_001267550.2	NP_001254479.2:p.(Met15809Thr)	NC_000002.11:g.179482652A>G	VUS	1 lab	99563e0078
10:26432377 MISSING A>Alt too long to show for this DUP	10	26432377	26520458	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.26432378_26520458dup	VUS	1 lab	995a32f724
19:33878977 PEPD C>T	19	33878977	33878977	C	T	PEPD	c.1163G>A	NM_000285.4	NP_000276.2:p.(Arg388His)	NC_000019.9:g.33878977C>T	(Likely) benign	1 lab	995f37816c
17:42427792 GRN A>G	17	42427792	42427792	A	G	GRN	c.463-18A>G	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42427792A>G	(Likely) benign	1 lab	9965bd99d9
2:44079773 ABCG8 G>A	2	44079773	44079773	G	A	ABCG8	c.730G>A	NM_022437.3	NP_071882.1:p.(Asp244Asn)	NC_000002.11:g.44079773G>A	(Likely) pathogenic	1 lab	99660ed923
19:42753785 ERF C>CG	19	42753785	42753790	C	CG	ERF	c.478dup	NM_006494.4	NP_006485.2:p.(Arg160ProfsTer29)	NC_000019.9:g.42753790dup	(Likely) pathogenic	1 lab	99696907ec
2:179501234 TTN GTCTT>G	2	179501234	179501239	GTCTT	G	TTN	c.41216_41219del	NM_001267550.2	NP_001254479.2:p.(Lys13739ThrfsTer36)	NC_000002.11:g.179501236_179501239del	(Likely) pathogenic	1 lab	9970bbabd9
13:52513337 ATP7B G>C	13	52513337	52513337	G	C	ATP7B	c.3557-8C>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52513337G>C	(Likely) benign	1 lab	9971a22fad
1:3328246 PRDM16 G>A	1	3328246	3328246	G	A	PRDM16	c.1485G>A	NM_022114.4	NP_071397.3:p.(Pro495=)	NC_000001.10:g.3328246G>A	(Likely) benign	1 lab	9975237124
18:19424103 MIB1 T>G	18	19424103	19424103	T	G	MIB1	c.2100T>G	NM_020774.4	NP_065825.1:p.(Asp700Glu)	NC_000018.9:g.19424103T>G	VUS	1 lab	9976138303
6:107009220 CRYBG1 C>A	6	107009220	107009220	C	A	CRYBG1	c.5983C>A	NM_001371242.2	NP_001358171.1:p.(Arg1995=)	NC_000006.11:g.107009220C>A	(Likely) benign	1 lab	99770f8236
2:152522655 NEB G>A	2	152522655	152522655	G	A	NEB	c.4980C>T	NM_001271208.2	NP_001258137.2:p.(Pro1660=)	NC_000002.11:g.152522655G>A	(Likely) benign	1 lab	9980780e7a
2:179615478 TTN A>C	2	179615478	179615478	A	C	TTN	c.11649T>G	NM_133379.5	NP_596870.2:p.(Phe3883Leu)	NC_000002.11:g.179615478A>C	VUS	1 lab	9980b86177
8:108472327 ANGPT1 Ref too long to show for this DEL>C	8	108472327	108491454	Ref too long to show for this DEL	C	ANGPT1	c.297+18038_297+37162del	NM_001146.5	NP_001137.2:p.?	NC_000008.10:g.108472330_108491454del	VUS	1 lab	99881d2bed
21:47536570 COL6A2 A>T	21	47536570	47536570	A	T	COL6A2	c.933A>T	NM_058175.3	NP_478055.2:p.(Glu311Asp)	NC_000021.8:g.47536570A>T	VUS	1 lab	9989fb0a42
9:32986030 APTX T>TAAAAAAAAACA	9	32986030	32986040	T	TAAAAAAAAACA	APTX	c.484-3_484-2insTGTTTTTTTTT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986039_32986040insCAAAAAAAAAA	(Likely) benign	1 lab	998a3ae931
20:61459339 COL9A3 G>A	20	61459339	61459339	G	A	COL9A3	c.900+11G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61459339G>A	(Likely) benign	1 lab	998adb4235
1:150531078 ADAMTSL4 A>G	1	150531078	150531078	A	G	ADAMTSL4	c.2512A>G	NM_019032.6	NP_061905.2:p.(Met838Val)	NC_000001.10:g.150531078A>G	(Likely) benign	1 lab	9992187672
19:11233967 LDLR C>CT	19	11233967	11233968	C	CT	LDLR	c.2259dup	NM_000527.5	NP_000518.1:p.(Gly754TrpfsTer28)	NC_000019.9:g.11233968dup	(Likely) pathogenic	1 lab	99aea4de32
1:26380423 TRIM63 C>A	1	26380423	26380423	C	A	TRIM63	c.1012G>T	NM_032588.4	NP_115977.2:p.(Asp338Tyr)	NC_000001.10:g.26380423C>A	VUS	1 lab	9994582a55
16:81944306 PLCG2 A>C	16	81944306	81944306	A	C	PLCG2	c.1915A>C	NM_002661.5	NP_002652.2:p.(Asn639His)	NC_000016.9:g.81944306A>C	VUS	1 lab	9995d8486e
11:76867891 MYO7A C>T	11	76867891	76867891	C	T	MYO7A	c.593-17C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76867891C>T	(Likely) benign	1 lab	999931a65e
10:112541669 RBM20 C>T	10	112541669	112541669	C	T	RBM20	c.1275+27C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112541669C>T	(Likely) benign	1 lab	99a2d3e8a2
11:47356116 MYBPC3 CT>C	11	47356116	47356129	CT	C	MYBPC3	c.2905+476del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356129del	(Likely) benign	1 lab	99a58b8688
7:151262989 PRKAG2 G>A	7	151262989	151262989	G	A	PRKAG2	c.1234-18C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151262989G>A	(Likely) benign	1 lab	99a6b81014
2:179402571 TTN T>C	2	179402571	179402571	T	C	TTN	c.99363A>G	NM_001267550.2	NP_001254479.2:p.(Ser33121=)	NC_000002.11:g.179402571T>C	(Likely) benign	1 lab	99a746d10d
2:113993138 PAX8 A>G	2	113993138	113993138	A	G	PAX8	c.920T>C	NM_003466.4	NP_003457.1:p.(Ile307Thr)	NC_000002.11:g.113993138A>G	VUS	1 lab	99a84d427e
20:60903044 LAMA5 G>A	20	60903044	60903044	G	A	LAMA5	c.4675C>T	NM_005560.6	NP_005551.3:p.(Arg1559Cys)	NC_000020.10:g.60903044G>A	VUS	1 lab	99a858af59
2:21256153 APOB G>A	2	21256153	21256153	G	A	APOB	c.1124+18C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21256153G>A	(Likely) benign	1 lab	99a8b3a77a
14:21792934 RPGRIP1 C>T	14	21792934	21792934	C	T	RPGRIP1	c.1920C>T	NM_020366.4	NP_065099.3:p.(Ala640=)	NC_000014.8:g.21792934C>T	(Likely) benign	1 lab	99a8f1653d
22:50903179 SBF1 C>T	22	50903179	50903179	C	T	SBF1	c.1432-12G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50903179C>T	(Likely) benign	1 lab	99ade4db5f
2:179557259 TTN G>A	2	179557259	179557259	G	A	TTN	c.31643C>T	NM_001267550.2	NP_001254479.2:p.(Pro10548Leu)	NC_000002.11:g.179557259G>A	VUS	1 lab	99ae18c899
2:95514946 ANKRD20A8P C>T	2	95514946	95514946	C	T	ANKRD20A8P	n.505G>A	NR_003366.2		NC_000002.11:g.95514946C>T	(Likely) benign	1 lab	99b68f0ada
8:10468758 RP1L1 G>A	8	10468758	10468758	G	A	RP1L1	c.2850C>T	NM_178857.6	NP_849188.4:p.(Arg950=)	NC_000008.10:g.10468758G>A	(Likely) benign	1 lab	99b75f24a8
2:179473427 TTN T>TTCAA	2	179473427	179473434	T	TTCAA	TTN	c.52307_52310dup	NM_001267550.2	NP_001254479.2:p.(Glu17437AspfsTer2)	NC_000002.11:g.179473431_179473434dup	(Likely) pathogenic	1 lab	99bab80e8e
10:122619922 WDR11 Ref too long to show for this DEL>C	10	122619922	122647149	Ref too long to show for this DEL	C	WDR11	c.526+129_2121+801del	NM_018117.12	NP_060587.8:p.?	NC_000010.10:g.122619923_122647149del	VUS	1 lab	99bda7c6f3
12:32974335 PKP2 TTCTTG>T	12	32974335	32974341	TTCTTG	T	PKP2	c.2095_2099del	NM_004572.4	NP_004563.2:p.(Gln699SerfsTer42)	NC_000012.11:g.32974337_32974341del	(Likely) benign	1 lab	99c515244f
1:236897542 ACTN2 A>G	1	236897542	236897542	A	G	ACTN2	c.698-1393A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236897542A>G	(Likely) benign	1 lab	99c5936c5a
11:298966 IFITM5 G>T	11	298966	298966	G	T	IFITM5	c.187-253C>A	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.298966G>T	(Likely) benign	1 lab	99c5e89513
1:214575122 PTPN14 T>C	1	214575122	214575122	T	C	PTPN14	c.582-7A>G	NM_005401.5	NP_005392.2:p.?	NC_000001.10:g.214575122T>C	(Likely) benign	1 lab	99cecd3951
5:60790227 ZSWIM6 G>A	5	60790227	60790227	G	A	ZSWIM6	c.1323G>A	NM_020928.2	NP_065979.1:p.(Trp441Ter)	NC_000005.9:g.60790227G>A	VUS	1 lab	99d01d4f9f
12:133202349 POLE G>A	12	133202349	133202349	G	A	POLE	c.6539C>T	NM_006231.4	NP_006222.2:p.(Ala2180Val)	NC_000012.11:g.133202349G>A	(Likely) benign	1 lab	99dd324226
12:122255151 SETD1B C>T	12	122255151	122255151	C	T	SETD1B	c.2928C>T	NM_001353345.2	NP_001340274.1:p.(Gly976=)	NC_000012.11:g.122255151C>T	(Likely) benign	1 lab	99dfe329a7
16:46755093 MYLK3 A>G	16	46755093	46755093	A	G	MYLK3	c.1927T>C	NM_182493.3	NP_872299.2:p.(Leu643=)	NC_000016.9:g.46755093A>G	(Likely) benign	1 lab	99e0a05ecf
2:179395019 TTN A>G	2	179395019	179395019	A	G	TTN	c.106323T>C	NM_001267550.2	NP_001254479.2:p.(Val35441=)	NC_000002.11:g.179395019A>G	(Likely) benign	1 lab	99e2ab3682
7:92734451 SAMD9 A>G	7	92734451	92734451	A	G	SAMD9	c.960T>C	NM_017654.4	NP_060124.2:p.(Tyr320=)	NC_000007.13:g.92734451A>G	(Likely) benign	1 lab	99e6f7e0d3
1:1737971 GNB1 G>A	1	1737971	1737971	G	A	GNB1	c.210C>T	NM_002074.5	NP_002065.1:p.(Leu70=)	NC_000001.10:g.1737971G>A	(Likely) benign	1 lab	99e7cc8eba
14:21778769 RPGRIP1 A>G	14	21778769	21778769	A	G	RPGRIP1	c.930+3A>G	NM_020366.4	NP_065099.3:p.?	NC_000014.8:g.21778769A>G	(Likely) benign	1 lab	99eb8cda35
2:151315703 MISSING Ref too long to show for this DEL>A	2	151315703	151355650	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.151315705_151355650del	VUS	1 lab	99f4dd188d
X:30873070 MISSING T>Alt too long to show for this DUP	X	30873070	31089459	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.30873072_31089459dup	VUS	1 lab	99f7a1dfed
9:107562800 ABCA1 A>G	9	107562800	107562800	A	G	ABCA1	c.4764T>C	NM_005502.4	NP_005493.2:p.(Asn1588=)	NC_000009.11:g.107562800A>G	(Likely) benign	1 lab	9a003d494c
5:223559 SDHA A>C	5	223559	223559	A	C	SDHA	c.64-38A>C	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.223559A>C	(Likely) benign	1 lab	9a06d62bf3
1:236908017 ACTN2 C>A	1	236908017	236908017	C	A	ACTN2	c.723C>A	NM_001278344.2	NP_001265273.1:p.(Ser241Arg)	NC_000001.10:g.236908017C>A	VUS	1 lab	9a06f441e7
18:29078277 DSG2 G>T	18	29078277	29078277	G	T	DSG2	c.45+18G>T	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29078277G>T	(Likely) benign	1 lab	9a16f0d02e
5:145838635 TCERG1 TCAGGCCCAGGCC>T	5	145838635	145838673	TCAGGCCCAGGCC	T	TCERG1	c.654_665del	NM_006706.4	NP_006697.2:p.(Ala239_Gln242del)	NC_000005.9:g.145838662_145838673del	(Likely) benign	1 lab	9a1daf7ab7
17:44116054 KANSL1 T>C	17	44116054	44116054	T	C	KANSL1	c.2393-2A>G	NM_001193466.2	NP_001180395.1:p.?	NC_000017.10:g.44116054T>C	(Likely) pathogenic	1 lab	9a223beae8
2:179396797 TTN C>T	2	179396797	179396797	C	T	TTN	c.104545G>A	NM_001267550.2	NP_001254479.2:p.(Glu34849Lys)	NC_000002.11:g.179396797C>T	VUS	1 lab	9a233033b6
17:40693154 NAGLU G>T	17	40693154	40693154	G	T	NAGLU	c.951G>T	NM_000263.4	NP_000254.2:p.(Met317Ile)	NC_000017.10:g.40693154G>T	VUS	1 lab	9a2884b8c1
2:96949533 SNRNP200 G>A	2	96949533	96949533	G	A	SNRNP200	c.4584+18C>T	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96949533G>A	(Likely) benign	1 lab	9a2aab2025
11:66282162 BBS1 C>T	11	66282162	66282162	C	T	BBS1	c.432+13C>T	NM_024649.5	NP_078925.3:p.?	NC_000011.9:g.66282162C>T	(Likely) benign	1 lab	9a2bf38aad
19:11227918 LDLR G>A	19	11227918	11227918	G	A	LDLR	c.1845+244G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227918G>A	VUS	1 lab	9a2da8f2c3
10:112559636 RBM20 T>A	10	112559636	112559636	T	A	RBM20	c.1760T>A	NM_001134363.3	NP_001127835.2:p.(Leu587His)	NC_000010.10:g.112559636T>A	VUS	1 lab	9a2dfbdc09
19:40900012 PRX G>GACA	19	40900012	40900015	G	GACA	PRX	c.4244_4246dup	NM_181882.3	NP_870998.2:p.(Val1415_Ser1416insLeu)	NC_000019.9:g.40900013_40900015dup	VUS	1 lab	9a300fc0df
6:7563846 DSP ATTCT>A	6	7563846	7563858	ATTCT	A	DSP	c.727-114_727-111del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7563855_7563858del	(Likely) benign	1 lab	9a3a2abd41
21:35863648 MISSING Ref too long to show for this DEL>A	21	35863648	36061242	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.35863649_36061242del	VUS	1 lab	9a3ce4d55e
1:197412251 CRB1 TA>T	1	197412251	197412270	TA	T	CRB1	c.3933+848del	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197412270del	(Likely) benign	1 lab	9a3fd5b5dc
7:128035228 IMPDH1 G>T	7	128035228	128035228	G	T	IMPDH1	c.1362C>A	NM_000883.4	NP_000874.2:p.(Thr454=)	NC_000007.13:g.128035228G>T	(Likely) benign	1 lab	9a4753988c
2:21261133 APOB C>T	2	21261133	21261133	C	T	APOB	c.384-150G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21261133C>T	(Likely) benign	1 lab	9a49a55d12
2:112702606 MERTK C>A	2	112702606	112702606	C	A	MERTK	c.552C>A	NM_006343.3	NP_006334.2:p.(Ile184=)	NC_000002.11:g.112702606C>A	(Likely) benign	1 lab	9a4cacc643
12:116457191 MED13L C>T	12	116457191	116457191	C	T	MED13L	c.847G>A	NM_015335.5	NP_056150.1:p.(Ala283Thr)	NC_000012.11:g.116457191C>T	VUS	1 lab	9a581af817
5:82835852 VCAN C>T	5	82835852	82835852	C	T	VCAN	c.7030C>T	NM_004385.5	NP_004376.2:p.(Pro2344Ser)	NC_000005.9:g.82835852C>T	(Likely) benign	1 lab	9a5ad77a88
9:135773000 TSC1 GAAA>G	9	135773000	135773018	GAAA	G	TSC1	c.2626-6_2626-4del	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773016_135773018del	VUS	1 lab	9a5b0cc996
19:10270539 DNMT1 A>G	19	10270539	10270539	A	G	DNMT1	c.1149T>C	NM_001130823.3	NP_001124295.1:p.(Tyr383=)	NC_000019.9:g.10270539A>G	(Likely) benign	1 lab	9a5ed1e351
17:37821600 PNMT A>G	17	37821600	37821600	A	G	PNMT				NC_000017.10:g.37821600A>G	(Likely) benign	1 lab	9a62fd8e4d
2:21265695 APOB T>C	2	21265695	21265695	T	C	APOB	c.122-347A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21265695T>C	(Likely) benign	1 lab	9a63cb988f
8:75263679 GDAP1 T>G	8	75263679	75263679	T	G	GDAP1	c.288T>G	NM_018972.4	NP_061845.2:p.(Tyr96Ter)	NC_000008.10:g.75263679T>G	(Likely) pathogenic	1 lab	9a69afe23b
17:15142808 PMP22 C>T	17	15142808	15142808	C	T	PMP22	c.299G>A	NM_000304.4	NP_000295.1:p.(Gly100Glu)	NC_000017.10:g.15142808C>T	(Likely) pathogenic	1 lab	9a6d327f28
14:35265961 MISSING T>Alt too long to show for this DUP	14	35265961	35443436	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.35265964_35443436dup	VUS	1 lab	9a711ac181
11:102207698 BIRC3 TATGGACAAAGAAGTGTCCATAGTGTTTA>T	11	102207698	102207726	TATGGACAAAGAAGTGTCCATAGTGTTTA	T	BIRC3	c.1681_1708del	NM_001165.5	NP_001156.1:p.(Met561PhefsTer6)	NC_000011.9:g.102207699_102207726del	(Likely) pathogenic	1 lab	9a730d26f8
16:3706246 TRAP1 Ref too long to show for this DEL>G	16	3706246	3726651	Ref too long to show for this DEL	G	TRAP1				NC_000016.9:g.3706248_3726651del	(Likely) pathogenic	1 lab	9a780c46c0
17:41222976 BRCA1 A>G	17	41222976	41222976	A	G	BRCA1	c.4955T>C	NM_007294.4	NP_009225.1:p.(Met1652Thr)	NC_000017.10:g.41222976A>G	(Likely) benign	1 lab	9a784a489a
19:55663235 TNNI3 T>C	19	55663235	55663235	T	C	TNNI3	c.600A>G	NM_000363.5	NP_000354.4:p.(Gly200=)	NC_000019.9:g.55663235T>C	(Likely) benign	1 lab	9a7963b2b5
12:50503159 GPD1 G>A	12	50503159	50503159	G	A	GPD1	c.954-47G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503159G>A	(Likely) benign	1 lab	9a7dd6a742
9:34512363 DNAI1 AG>A	9	34512363	34512364	AG	A	DNAI1	c.1443del	NM_001281428.2	NP_001268357.1:p.(Lys481AsnfsTer2)	NC_000009.11:g.34512364del	(Likely) pathogenic	1 lab	9a8266b31e
8:19810791 LPL A>C	8	19810791	19810791	A	C	LPL	c.430-30A>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19810791A>C	(Likely) benign	1 lab	9a840813a1
9:101594219 GALNT12 A>G	9	101594219	101594219	A	G	GALNT12	c.897A>G	NM_024642.5	NP_078918.3:p.(Gln299=)	NC_000009.11:g.101594219A>G	(Likely) benign	1 lab	9a8578a41b
1:115828777 NGF C>T	1	115828777	115828777	C	T	NGF	c.640G>A	NM_002506.3	NP_002497.2:p.(Asp214Asn)	NC_000001.10:g.115828777C>T	VUS	1 lab	9a8bb28b97
X:135961209 RBMX G>A	X	135961209	135961209	G	A	RBMX	c.183C>T	NM_002139.4	NP_002130.2:p.(Asp61=)	NC_000023.10:g.135961209G>A	(Likely) benign	1 lab	9a8bd7f67a
9:100447186 XPA A>G	9	100447186	100447186	A	G	XPA	c.673+19T>C	NM_000380.4	NP_000371.1:p.?	NC_000009.11:g.100447186A>G	(Likely) benign	1 lab	9a8ca58d3c
14:68195895 RDH12 C>A	14	68195895	68195895	C	A	RDH12	c.659-13C>A	NM_152443.3	NP_689656.2:p.?	NC_000014.8:g.68195895C>A	(Likely) benign	1 lab	9a8d2a481f
11:31816325 PAX6 G>T	11	31816325	31816325	G	T	PAX6	c.127C>A	NM_001310160.2	NP_001297089.1:p.(Gln43Lys)	NC_000011.9:g.31816325G>T	VUS	1 lab	9a8dcd0e55
10:55943184 PCDH15 T>G	10	55943184	55943184	T	G	PCDH15	c.1605+20A>C	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55943184T>G	(Likely) benign	1 lab	9a90da9b68
15:74364587 GOLGA6A G>A	15	74364587	74364587	G	A	GOLGA6A	c.1565C>T	NM_001038640.2	NP_001033729.2:p.(Pro522Leu)	NC_000015.9:g.74364587G>A	(Likely) benign	1 lab	9a9138f63d
2:105990026 FHL2 G>A	2	105990026	105990026	G	A	FHL2	c.321C>T	NM_201555.2	NP_963849.1:p.(Thr107=)	NC_000002.11:g.105990026G>A	(Likely) benign	1 lab	9a9398b70f
X:49082870 CACNA1F C>T	X	49082870	49082870	C	T	CACNA1F	c.1496+1G>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49082870C>T	(Likely) pathogenic	1 lab	9a942e98c4
17:56296807 MKS1 T>C	17	56296807	56296807	T	C	MKS1				NC_000017.10:g.56296807T>C	(Likely) benign	1 lab	9a954081d2
5:147820104 FBXO38 A>G	5	147820104	147820104	A	G	FBXO38	c.3274+14A>G	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147820104A>G	(Likely) benign	1 lab	9a96c06210
2:179436391 TTN G>C	2	179436391	179436391	G	C	TTN	c.74468C>G	NM_001267550.2	NP_001254479.2:p.(Ala24823Gly)	NC_000002.11:g.179436391G>C	VUS	1 lab	9a995c19e0
11:47356136 MYBPC3 T>G	11	47356136	47356136	T	G	MYBPC3	c.2905+457A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356136T>G	(Likely) benign	1 lab	9a9b532046
17:68116884 MISSING Ref too long to show for this DEL>T	17	68116884	71720557	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.68116885_71720557del	(Likely) pathogenic	1 lab	9a9ed38836
2:74597111 DCTN1 C>T	2	74597111	74597111	C	T	DCTN1	c.1373G>A	NM_004082.5	NP_004073.2:p.(Arg458Lys)	NC_000002.11:g.74597111C>T	VUS	1 lab	9aa2bd0efc
2:25043683 ADCY3 G>A	2	25043683	25043683	G	A	ADCY3	c.3162C>T	NM_004036.5	NP_004027.2:p.(Ile1054=)	NC_000002.11:g.25043683G>A	(Likely) benign	1 lab	9aa36fe9c2
10:48390161 RBP3 G>A	10	48390161	48390161	G	A	RBP3	c.717C>T	NM_002900.3	NP_002891.1:p.(Ala239=)	NC_000010.10:g.48390161G>A	(Likely) benign	1 lab	9aa39d687e
15:85405888 ALPK3 C>T	15	85405888	85405888	C	T	ALPK3	c.4152C>T	NM_020778.5	NP_065829.4:p.(Thr1384=)	NC_000015.9:g.85405888C>T	(Likely) benign	1 lab	9aa540e3de
6:123869716 TRDN C>T	6	123869716	123869716	C	T	TRDN	c.274G>A	NM_006073.4	NP_006064.2:p.(Val92Ile)	NC_000006.11:g.123869716C>T	(Likely) benign	1 lab	9aaec91613
16:2125839 TSC2 C>T	16	2125839	2125839	C	T	TSC2	c.2585C>T	NM_000548.5	NP_000539.2:p.(Ala862Val)	NC_000016.9:g.2125839C>T	VUS	1 lab	9ab1e30974
2:21257377 APOB C>T	2	21257377	21257377	C	T	APOB	c.904+311G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257377C>T	(Likely) benign	1 lab	9ab9d195b2
17:48273742 COL1A1 C>T	17	48273742	48273742	C	T	COL1A1	c.904-14G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48273742C>T	(Likely) pathogenic	1 lab	9abb28db08
2:179640148 TTN C>T	2	179640148	179640148	C	T	TTN	c.6443G>A	NM_001267550.2	NP_001254479.2:p.(Ser2148Asn)	NC_000002.11:g.179640148C>T	VUS	1 lab	9abd74ea54
16:1004394 LMF1 C>T	16	1004394	1004394	C	T	LMF1	c.466G>A	NM_022773.4	NP_073610.2:p.(Gly156Ser)	NC_000016.9:g.1004394C>T	(Likely) benign	1 lab	9ac08c6090
1:236755937 HEATR1 T>TA	1	236755937	236755948	T	TA	HEATR1	c.1194-5dup	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236755948dup	(Likely) benign	1 lab	9ac3074e09
6:135751006 AHI1 T>C	6	135751006	135751006	T	C	AHI1	c.2492+14A>G	NM_001350503.2	NP_001337432.1:p.?	NC_000006.11:g.135751006T>C	(Likely) benign	1 lab	9acea38eea
6:79680592 PHIP C>G	6	79680592	79680592	C	G	PHIP	c.2903G>C	NM_017934.7	NP_060404.4:p.(Arg968Pro)	NC_000006.11:g.79680592C>G	VUS	1 lab	9ad383cb5c
19:3771785 RAX2 C>T	19	3771785	3771785	C	T	RAX2	c.-45G>A	NM_001319074.4	NP_001306003.2:p.?	NC_000019.9:g.3771785C>T	(Likely) benign	1 lab	9ad52bcd71
9:136435557 ADAMTSL2 C>T	9	136435557	136435557	C	T	ADAMTSL2	c.2520C>T	NM_001145320.2	NP_001138792.1:p.(Ala840=)	NC_000009.11:g.136435557C>T	(Likely) benign	1 lab	9ad740eeef
7:144364877 TPK1 C>CT	7	144364877	144364880	C	CT	TPK1	c.111dup	NM_001350882.1	NP_001337811.1:p.(Asp38ArgfsTer24)	NC_000007.13:g.144364880dup	(Likely) benign	1 lab	9ada8350a5
7:158231814 MISSING T>Alt too long to show for this DUP	7	158231814	158445433	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.158231816_158445433dup	VUS	1 lab	9adcdc978b
6:219050 MISSING Ref too long to show for this DEL>G	6	219050	1449082	Ref too long to show for this DEL	G	MISSING				NC_000006.11:g.219051_1449082del	VUS	1 lab	9ae3e05dd0
X:153994469 DKC1 A>AT	X	153994469	153994481	A	AT	DKC1	c.264-10dup	NM_001363.5	NP_001354.1:p.?	NC_000023.10:g.153994481dup	(Likely) benign	1 lab	9ae57aef9c
6:129419419 LAMA2 G>A	6	129419419	129419419	G	A	LAMA2	c.498G>A	NM_000426.4	NP_000417.3:p.(Trp166Ter)	NC_000006.11:g.129419419G>A	(Likely) pathogenic	1 lab	9ae717fdc3
3:179137204 GNB4 A>G	3	179137204	179137204	A	G	GNB4	c.186T>C	NM_021629.4	NP_067642.1:p.(His62=)	NC_000003.11:g.179137204A>G	(Likely) benign	1 lab	9aec29c4fc
12:64868093 TBK1 G>T	12	64868093	64868093	G	T	TBK1	c.624G>T	NM_013254.4	NP_037386.1:p.(Gly208=)	NC_000012.11:g.64868093G>T	(Likely) benign	1 lab	9aede42c4f
2:48018222 MSH6 A>G	2	48018222	48018222	A	G	MSH6	c.417A>G	NM_000179.3	NP_000170.1:p.(Thr139=)	NC_000002.11:g.48018222A>G	(Likely) benign	1 lab	9aeff268b1
12:69927649 MISSING T>Alt too long to show for this DUP	12	69927649	69997098	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.69927650_69997098dup	VUS	1 lab	9af65897be
17:34171590 TAF15 A>G	17	34171590	34171590	A	G	TAF15	c.1287A>G	NM_139215.3	NP_631961.1:p.(Gly429=)	NC_000017.10:g.34171590A>G	(Likely) benign	1 lab	9afbaaa373
11:68192684 LRP5 G>C	11	68192684	68192684	G	C	LRP5	c.3351G>C	NM_002335.4	NP_002326.2:p.(Leu1117=)	NC_000011.9:g.68192684G>C	(Likely) benign	1 lab	9b0189f9c4
18:47088754 LIPG G>A	18	47088754	47088754	G	A	LIPG	c.76G>A	NM_006033.4	NP_006024.1:p.(Gly26Ser)	NC_000018.9:g.47088754G>A	(Likely) benign	1 lab	9b06bee404
19:50339031 MED25 C>T	19	50339031	50339031	C	T	MED25	c.1794C>T	NM_030973.4	NP_112235.2:p.(Ala598=)	NC_000019.9:g.50339031C>T	(Likely) benign	1 lab	9b0fea216a
16:88500890 ZNF469 G>A	16	88500890	88500890	G	A	ZNF469	c.7012G>A	NM_001367624.2	NP_001354553.1:p.(Gly2338Ser)	NC_000016.9:g.88500890G>A	(Likely) benign	1 lab	9b10737fdc
2:99013327 CNGA3 C>T	2	99013327	99013327	C	T	CNGA3	c.1694C>T	NM_001298.3	NP_001289.1:p.(Thr565Met)	NC_000002.11:g.99013327C>T	VUS	1 lab	9b13a68bc3
1:243434326 SDCCAG8 T>C	1	243434326	243434326	T	C	SDCCAG8	c.267T>C	NM_006642.5	NP_006633.1:p.(Ser89=)	NC_000001.10:g.243434326T>C	(Likely) benign	1 lab	9b15328321
12:21375306 SLCO1B1 GAAAAAAAAAAAA>G	12	21375306	21375332	GAAAAAAAAAAAA	G	SLCO1B1	c.1747+23_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375321_21375332del	(Likely) benign	1 lab	9b15583521
10:69908173 MYPN A>G	10	69908173	69908173	A	G	MYPN	c.1194A>G	NM_032578.4	NP_115967.2:p.(Val398=)	NC_000010.10:g.69908173A>G	(Likely) benign	1 lab	9b16e11391
17:10322285 MYH8 C>G	17	10322285	10322285	C	G	MYH8	c.273G>C	NM_002472.3	NP_002463.2:p.(Glu91Asp)	NC_000017.10:g.10322285C>G	VUS	1 lab	9b1bdee026
16:54317583 IRX3 G>GT	16	54317583	54317591	G	GT	IRX3	c.*14dup	NM_024336.3	NP_077312.2:p.?	NC_000016.9:g.54317591dup	(Likely) benign	1 lab	9b1cb58633
15:35084606 ACTC1 C>T	15	35084606	35084606	C	T	ACTC1	c.616+3G>A	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35084606C>T	(Likely) benign	1 lab	9b1d12083a
2:21238325 APOB G>A	2	21238325	21238325	G	A	APOB	c.3425C>T	NM_000384.3	NP_000375.3:p.(Ser1142Leu)	NC_000002.11:g.21238325G>A	VUS	1 lab	9b1edd2d16
9:137703549 COL5A1 C>G	9	137703549	137703549	C	G	COL5A1	c.3690+104C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137703549C>G	(Likely) benign	1 lab	9b202ef35a
10:90699345 ACTA2 C>T	10	90699345	90699345	C	T	ACTA2	c.727G>A	NM_001141945.2	NP_001135417.1:p.(Glu243Lys)	NC_000010.10:g.90699345C>T	(Likely) pathogenic	1 lab	9b2c6e8d62
3:129247946 RHO C>T	3	129247946	129247946	C	T	RHO	c.361+9C>T	NM_000539.3	NP_000530.1:p.?	NC_000003.11:g.129247946C>T	(Likely) benign	1 lab	9b2cb93f00
6:7574485 DSP G>C	6	7574485	7574485	G	C	DSP	c.2297G>C	NM_004415.4	NP_004406.2:p.(Ser766Thr)	NC_000006.11:g.7574485G>C	(Likely) pathogenic	1 lab	9b2ec68310
18:28666583 DSC2 T>C	18	28666583	28666583	T	C	DSC2	c.898A>G	NM_004949.5	NP_004940.1:p.(Thr300Ala)	NC_000018.9:g.28666583T>C	VUS	1 lab	9b30f85e77
10:75868533 VCL C>T	10	75868533	75868533	C	T	VCL	c.2560-196C>T	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75868533C>T	(Likely) benign	1 lab	9b316d3ec7
8:133895252 TG T>G	8	133895252	133895252	T	G	TG	c.1075+8T>G	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133895252T>G	(Likely) benign	1 lab	9b3ce715b6
12:21375306 SLCO1B1 G>GA	12	21375306	21375332	G	GA	SLCO1B1	c.1747+34dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375332dup	(Likely) benign	1 lab	9b41aaf1db
7:94055257 COL1A2 G>C	7	94055257	94055257	G	C	COL1A2	c.2944-53G>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94055257G>C	(Likely) benign	1 lab	9b439d0ad6
3:38648255 SCN5A C>T	3	38648255	38648255	C	T	SCN5A	c.1045G>A	NM_198056.3	NP_932173.1:p.(Asp349Asn)	NC_000003.11:g.38648255C>T	(Likely) pathogenic	1 lab	9b466528e8
15:20740236 GOLGA6L6 A>T	15	20740236	20740236	A	T	GOLGA6L6	c.1436T>A	NM_001145004.2	NP_001138476.2:p.(Ile479Lys)	NC_000015.9:g.20740236A>T	(Likely) benign	1 lab	9b51ffea2c
2:44102345 ABCG8 T>C	2	44102345	44102345	T	C	ABCG8	c.1549T>C	NM_022437.3	NP_071882.1:p.(Trp517Arg)	NC_000002.11:g.44102345T>C	VUS	1 lab	9b528611bb
17:48269827 COL1A1 C>A	17	48269827	48269827	C	A	COL1A1	c.1983+9G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48269827C>A	(Likely) benign	1 lab	9b561941ae
10:105945839 CFAP43 G>A	10	105945839	105945839	G	A	CFAP43	c.1903C>T	NM_025145.7	NP_079421.5:p.(Gln635Ter)	NC_000010.10:g.105945839G>A	(Likely) pathogenic	1 lab	9b56a5bc04
16:67976692 LCAT G>T	16	67976692	67976692	G	T	LCAT	c.428-23C>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976692G>T	(Likely) benign	1 lab	9b59992922
9:107582205 ABCA1 C>A	9	107582205	107582205	C	A	ABCA1	c.3103+3G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107582205C>A	VUS	1 lab	9b5b4460b8
2:179497247 TTN ATT>A	2	179497247	179497250	ATT	A	TTN	c.43480+4_43480+5del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179497249_179497250del	(Likely) benign	1 lab	9b5ddeb060
16:1004585 LMF1 T>C	16	1004585	1004585	T	C	LMF1	c.275A>G	NM_022773.4	NP_073610.2:p.(Lys92Arg)	NC_000016.9:g.1004585T>C	VUS	1 lab	a0b1978e71
13:21632308 MISSING T>Alt too long to show for this DUP	13	21632308	22025348	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.21632312_22025348dup	VUS	1 lab	9b62e43849
3:101370529 ZBTB11 TA>T	3	101370529	101370547	TA	T	ZBTB11	c.2645-3del	NM_014415.4	NP_055230.2:p.?	NC_000003.11:g.101370547del	(Likely) benign	1 lab	9b6b0bffbd
18:34326982 FHOD3 G>A	18	34326982	34326982	G	A	FHOD3	c.4116G>A	NM_001281740.3	NP_001268669.1:p.(Lys1372=)	NC_000018.9:g.34326982G>A	(Likely) benign	1 lab	9b6bc50c97
15:45386443 DUOX2 C>T	15	45386443	45386443	C	T	DUOX2	c.4552G>A	NM_014080.5	NP_054799.4:p.(Gly1518Ser)	NC_000015.9:g.45386443C>T	(Likely) pathogenic	1 lab	9b6de5b234
11:47358885 MYBPC3 T>C	11	47358885	47358885	T	C	MYBPC3	c.2602+57A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358885T>C	(Likely) benign	1 lab	9b6fe048a8
11:47355895 MYBPC3 G>A	11	47355895	47355895	G	A	MYBPC3	c.2906-334C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355895G>A	(Likely) benign	1 lab	9b711875ad
1:55523697 PCSK9 C>A	1	55523697	55523697	C	A	PCSK9	c.1181-12C>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523697C>A	(Likely) benign	1 lab	9b756b6fcc
2:179615907 TTN A>G	2	179615907	179615907	A	G	TTN	c.11220T>C	NM_133379.5	NP_596870.2:p.(Asp3740=)	NC_000002.11:g.179615907A>G	(Likely) benign	1 lab	9b75c43e65
11:99078715 CNTN5 A>Alt too long to show for this DUP	11	99078715	99170475	A	Alt too long to show for this DUP	CNTN5	c.-209-117361_-209-25602dup	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.99078716_99170475dup	VUS	1 lab	9b7f7c7d2d
6:1778810 GMDS Ref too long to show for this DEL>A	6	1778810	1794700	Ref too long to show for this DEL	A	GMDS	c.772-51879_772-35991del	NM_001500.4	NP_001491.1:p.?	NC_000006.11:g.1778812_1794700del	VUS	1 lab	9b8877098e
3:119367142 POPDC2 C>T	3	119367142	119367142	C	T	POPDC2	c.974G>A	NM_001369919.2	NP_001356848.1:p.(Arg325Gln)	NC_000003.11:g.119367142C>T	VUS	1 lab	9b8af8f002
2:86444238 REEP1 T>C	2	86444238	86444238	T	C	REEP1	c.596-5A>G	NM_022912.3	NP_075063.1:p.?	NC_000002.11:g.86444238T>C	(Likely) benign	1 lab	9b95f1f946
14:23894526 MYH7 G>A	14	23894526	23894526	G	A	MYH7	c.2388C>T	NM_000257.4	NP_000248.2:p.(Leu796=)	NC_000014.8:g.23894526G>A	(Likely) benign	1 lab	9b989f2d95
2:1653317 PXDN G>A	2	1653317	1653317	G	A	PXDN	c.2235C>T	NM_012293.3	NP_036425.1:p.(Asp745=)	NC_000002.11:g.1653317G>A	(Likely) benign	1 lab	9b99e1a625
6:56457089 DST C>T	6	56457089	56457089	C	T	DST	c.6437G>A	NM_001144769.5	NP_001138241.1:p.(Cys2146Tyr)	NC_000006.11:g.56457089C>T	VUS	1 lab	9b9b11d8df
3:49691434 BSN C>T	3	49691434	49691434	C	T	BSN	c.4445C>T	NM_003458.4	NP_003449.2:p.(Pro1482Leu)	NC_000003.11:g.49691434C>T	(Likely) benign	1 lab	9b9c59145b
19:2115562 AP3D1 G>A	19	2115562	2115562	G	A	AP3D1	c.2124C>T	NM_001261826.3	NP_001248755.1:p.(Asp708=)	NC_000019.9:g.2115562G>A	(Likely) benign	1 lab	9b9cf72d24
11:8123143 TUB G>A	11	8123143	8123143	G	A	TUB	c.1663G>A	NM_003320.5	NP_003311.2:p.(Asp555Asn)	NC_000011.9:g.8123143G>A	VUS	1 lab	9ba2aa0a12
10:56288130 PCDH15 T>A	10	56288130	56288130	T	A	PCDH15	c.106+18A>T	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.56288130T>A	(Likely) benign	1 lab	9ba3ef1b95
6:157100430 ARID1B AGGC>A	6	157100430	157100444	AGGC	A	ARID1B	c.1628_1630del	NM_001371656.1	NP_001358585.1:p.(Ala543del)	NC_000006.11:g.157100442_157100444del	(Likely) benign	1 lab	9ba5c18baf
16:921144 LMF1 C>A	16	921144	921144	C	A	LMF1	c.679+17G>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.921144C>A	(Likely) benign	1 lab	9ba91e3821
7:138595985 KIAA1549 T>A	7	138595985	138595985	T	A	KIAA1549	c.3052A>T	NM_001164665.2	NP_001158137.1:p.(Ile1018Leu)	NC_000007.13:g.138595985T>A	(Likely) benign	1 lab	9bb522e772
17:39262237 KRTAP4-9 C>T	17	39262237	39262237	C	T	KRTAP4-9	c.597C>T	NM_001146041.1	NP_001139513.1:p.(Cys199=)	NC_000017.10:g.39262237C>T	(Likely) benign	1 lab	9bb58a761a
2:1915843 MYT1L G>A	2	1915843	1915843	G	A	MYT1L	c.1658C>T	NM_001329851.3	NP_001316780.1:p.(Pro553Leu)	NC_000002.11:g.1915843G>A	VUS	1 lab	9bb8206dd8
6:167234041 MISSING T>Alt too long to show for this DUP	6	167234041	167343329	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.167234043_167343329dup	VUS	1 lab	9bbc53bb2a
13:30829757 KATNAL1 CA>C	13	30829757	30829776	CA	C	KATNAL1	c.324-6del	NM_032116.5	NP_115492.1:p.?	NC_000013.10:g.30829776del	(Likely) benign	1 lab	9bbf71db2d
11:47366818 MYBPC3 G>T	11	47366818	47366818	G	T	MYBPC3	c.1090+940C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366818G>T	(Likely) benign	1 lab	9bc5743f3d
11:47353580 MYBPC3 C>T	11	47353580	47353580	C	T	MYBPC3	c.3814+43G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353580C>T	(Likely) benign	1 lab	9bd4eb0c6d
2:44078920 ABCG8 C>T	2	44078920	44078920	C	T	ABCG8	c.520C>T	NM_022437.3	NP_071882.1:p.(Arg174Trp)	NC_000002.11:g.44078920C>T	VUS	1 lab	a2097367fd
9:34506724 DNAI1 G>T	9	34506724	34506724	G	T	DNAI1	c.1175G>T	NM_001281428.2	NP_001268357.1:p.(Cys392Phe)	NC_000009.11:g.34506724G>T	VUS	1 lab	9bdc56b812
11:77672189 INTS4 TAA>T	11	77672189	77672206	TAA	T	INTS4	c.472-7_472-6del	NM_033547.4	NP_291025.3:p.?	NC_000011.9:g.77672205_77672206del	(Likely) benign	1 lab	9bdfe30fed
3:129251439 RHO GTCA>G	3	129251439	129251449	GTCA	G	RHO	c.768_770del	NM_000539.3	NP_000530.1:p.(Ile256del)	NC_000003.11:g.129251447_129251449del	(Likely) pathogenic	1 lab	9be1efce69
1:1168288 B3GALT6 G>A	1	1168288	1168288	G	A	B3GALT6	c.630G>A	NM_080605.4	NP_542172.2:p.(Leu210=)	NC_000001.10:g.1168288G>A	(Likely) benign	1 lab	9be8b147a0
14:29237297 FOXG1 G>T	14	29237297	29237297	G	T	FOXG1	c.812G>T	NM_005249.5	NP_005240.3:p.(Gly271Val)	NC_000014.8:g.29237297G>T	(Likely) pathogenic	1 lab	9beb817ffd
1:12067116 MFN2 A>G	1	12067116	12067116	A	G	MFN2	c.1879A>G	NM_014874.4	NP_055689.1:p.(Lys627Glu)	NC_000001.10:g.12067116A>G	VUS	1 lab	9bef2ae882
10:131503636 MGMT Ref too long to show for this DEL>G	10	131503636	131543483	Ref too long to show for this DEL	G	MGMT	c.126-2521_275-13983del	NM_002412.5	NP_002403.3:p.?	NC_000010.10:g.131503638_131543483del	VUS	1 lab	9bf1708c49
2:219677780 CYP27A1 G>A	2	219677780	219677780	G	A	CYP27A1	c.978G>A	NM_000784.4	NP_000775.1:p.(Met326Ile)	NC_000002.11:g.219677780G>A	(Likely) benign	1 lab	9bf62caf48
19:11226815 LDLR A>AGG	19	11226815	11226820	A	AGG	LDLR	c.1636_1637dup	NM_000527.5	NP_000518.1:p.(Leu547AlafsTer2)	NC_000019.9:g.11226819_11226820dup	(Likely) pathogenic	1 lab	9bfafafe8b
9:107550311 ABCA1 G>T	9	107550311	107550311	G	T	ABCA1	c.6094C>A	NM_005502.4	NP_005493.2:p.(Leu2032Met)	NC_000009.11:g.107550311G>T	VUS	1 lab	9c0028c504
17:1670219 SERPINF1 G>T	17	1670219	1670219	G	T	SERPINF1	c.15G>T	NM_002615.7	NP_002606.3:p.(Val5=)	NC_000017.10:g.1670219G>T	(Likely) benign	1 lab	9c0100eace
6:56716336 DST AATC>A	6	56716336	56716342	AATC	A	DST	c.481_483del	NM_001144769.5	NP_001138241.1:p.(Asp161del)	NC_000006.11:g.56716340_56716342del	VUS	1 lab	9c0669025c
3:38628897 SCN5A GAAGGAGCGCAGCACCGAC>G	3	38628897	38628918	GAAGGAGCGCAGCACCGAC	G	SCN5A	c.2412_2429del	NM_198056.3	NP_932173.1:p.(Leu804_Ser809del)	NC_000003.11:g.38628901_38628918del	VUS	1 lab	9c081d1b6d
15:42695151 CAPN3 G>A	15	42695151	42695151	G	A	CAPN3	c.1696G>A	NM_000070.3	NP_000061.1:p.(Glu566Lys)	NC_000015.9:g.42695151G>A	VUS	1 lab	9c0827858a
12:133214708 POLE T>C	12	133214708	133214708	T	C	POLE	c.5570A>G	NM_006231.4	NP_006222.2:p.(Lys1857Arg)	NC_000012.11:g.133214708T>C	(Likely) benign	1 lab	9c09433a8c
22:50304114 ALG12 C>T	22	50304114	50304114	C	T	ALG12	c.437G>A	NM_024105.4	NP_077010.1:p.(Arg146Gln)	NC_000022.10:g.50304114C>T	(Likely) pathogenic	1 lab	9c09a5c345
1:180235662 LHX4 C>T	1	180235662	180235662	C	T	LHX4	c.384C>T	NM_033343.4	NP_203129.1:p.(Asp128=)	NC_000001.10:g.180235662C>T	(Likely) benign	1 lab	9c0b409cf6
6:16141953 MYLIP A>G	6	16141953	16141953	A	G	MYLIP	c.376A>G	NM_013262.4	NP_037394.2:p.(Thr126Ala)	NC_000006.11:g.16141953A>G	VUS	1 lab	9c0bda3343
14:105177404 INF2 T>C	14	105177404	105177404	T	C	INF2	c.2311-12T>C	NM_001031714.4	NP_001026884.3:p.?	NC_000014.8:g.105177404T>C	(Likely) benign	1 lab	9c1915653c
17:58304592 MISSING Ref too long to show for this DEL>C	17	58304592	60347456	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.58304593_60347456del	(Likely) pathogenic	1 lab	9c19ee2fbe
2:167144995 SCN1A-AS1 T>C	2	167144995	167144995	T	C	SCN1A-AS1	n.1030-6080T>C	NR_110260.1		NC_000002.11:g.167144995T>C	(Likely) benign	1 lab	9c1e89d802
12:21392141 SLCO1B1 C>A	12	21392141	21392141	C	A	SLCO1B1	c.*18C>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21392141C>A	(Likely) benign	1 lab	9c2b491afa
2:179577421 TTN A>G	2	179577421	179577421	A	G	TTN	c.27328+3T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179577421A>G	(Likely) benign	1 lab	9c35f99e13
17:9143279 NTN1 G>A	17	9143279	9143279	G	A	NTN1	c.1809G>A	NM_004822.3	NP_004813.2:p.(Lys603=)	NC_000017.10:g.9143279G>A	(Likely) benign	1 lab	9c3e39acee
12:30818134 IPO8 C>G	12	30818134	30818134	C	G	IPO8	c.1428+20G>C	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30818134C>G	(Likely) benign	1 lab	9c3f8ddf5c
5:90667175 MISSING Ref too long to show for this DEL>C	5	90667175	90696945	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.90667176_90696945del	VUS	1 lab	9c4066aa4f
8:134271469 NDRG1 T>G	8	134271469	134271469	T	G	NDRG1	c.331A>C	NM_001135242.2	NP_001128714.1:p.(Met111Leu)	NC_000008.10:g.134271469T>G	VUS	1 lab	9c4106e0b2
11:116701512 APOC3 T>C	11	116701512	116701512	T	C	APOC3	c.79T>C	NM_000040.3	NP_000031.1:p.(Ser27Pro)	NC_000011.9:g.116701512T>C	VUS	1 lab	9c47969c79
5:171766272 SH3PXD2B G>A	5	171766272	171766272	G	A	SH3PXD2B	c.1837C>T	NM_001017995.3	NP_001017995.1:p.(Arg613Trp)	NC_000005.9:g.171766272G>A	VUS	1 lab	9c4afdf5e2
16:29427213 MISSING Ref too long to show for this DEL>A	16	29427213	30190029	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29427215_30190029del	(Likely) pathogenic	1 lab	9c4b0f6913
16:77334175 ADAMTS18 C>T	16	77334175	77334175	C	T	ADAMTS18	c.2659G>A	NM_199355.4	NP_955387.1:p.(Val887Ile)	NC_000016.9:g.77334175C>T	VUS	1 lab	9c4dc3dd74
6:56489407 DST C>T	6	56489407	56489407	C	T	DST	c.4751G>A	NM_001144769.5	NP_001138241.1:p.(Arg1584Gln)	NC_000006.11:g.56489407C>T	VUS	1 lab	9c50bb1029
19:45409159 APOE C>T	19	45409159	45409159	C	T	APOE	c.34C>T	NM_001302688.2	NP_001289617.1:p.(Pro12Ser)	NC_000019.9:g.45409159C>T	VUS	1 lab	9c51a8782a
18:34298406 FHOD3 G>A	18	34298406	34298406	G	A	FHOD3	c.3145G>A	NM_001281740.3	NP_001268669.1:p.(Val1049Ile)	NC_000018.9:g.34298406G>A	(Likely) benign	1 lab	9c54cf7b66
17:71506291 SDK2 Ref too long to show for this DEL>C	17	71506291	71583882	Ref too long to show for this DEL	C	SDK2	c.64+56283_65-2556del	NM_001144952.2	NP_001138424.1:p.?	NC_000017.10:g.71506293_71583882del	VUS	1 lab	9c584ffa97
16:57003823 CETP C>A	16	57003823	57003823	C	A	CETP	c.440-3C>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003823C>A	VUS	1 lab	9c5a46c7e9
17:48263880 COL1A1 C>A	17	48263880	48263880	C	A	COL1A1	c.3815-12G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48263880C>A	(Likely) benign	1 lab	9c643c4df2
21:38865389 DYRK1A C>G	21	38865389	38865389	C	G	DYRK1A	c.995C>G	NM_130436.2	NP_569120.1:p.(Ala332Gly)	NC_000021.8:g.38865389C>G	(Likely) pathogenic	1 lab	9c647ad186
4:15516447 CC2D2A C>T	4	15516447	15516447	C	T	CC2D2A	c.835C>T	NM_001080522.2	NP_001073991.2:p.(Leu279=)	NC_000004.11:g.15516447C>T	(Likely) benign	1 lab	9c652a38e3
5:127681461 FBN2 G>A	5	127681461	127681461	G	A	FBN2	c.2990-185C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127681461G>A	(Likely) benign	1 lab	9c73d9bb19
3:123345874 MYLK C>T	3	123345874	123345874	C	T	MYLK	c.5115-86G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123345874C>T	(Likely) benign	1 lab	9c783a3bc7
14:78036760 SPTLC2 C>A	14	78036760	78036760	C	A	SPTLC2	c.723G>T	NM_004863.4	NP_004854.1:p.(Thr241=)	NC_000014.8:g.78036760C>A	(Likely) benign	1 lab	9c7898ada5
9:107646644 ABCA1 G>A	9	107646644	107646644	G	A	ABCA1	c.302+64C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646644G>A	(Likely) benign	1 lab	9c7aed4979
X:30326111 MISSING Ref too long to show for this DEL>A	X	30326111	30596463	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.30326112_30596463del	(Likely) pathogenic	1 lab	9c7d6c9e62
2:179470200 TTN T>A	2	179470200	179470200	T	A	TTN	c.53822A>T	NM_001267550.2	NP_001254479.2:p.(Asn17941Ile)	NC_000002.11:g.179470200T>A	VUS	1 lab	9c827754f0
11:65313116 LTBP3 G>A	11	65313116	65313116	G	A	LTBP3	c.2353+797C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65313116G>A	(Likely) benign	1 lab	9c86e82fd8
9:107620791 ABCA1 A>G	9	107620791	107620791	A	G	ABCA1	c.720+12T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620791A>G	(Likely) benign	1 lab	9c8c23e7c8
4:122962545 MISSING G>Alt too long to show for this DUP	4	122962545	123088890	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.122962547_123088890dup	VUS	1 lab	9c8ce28817
7:21826351 DNAH11 G>A	7	21826351	21826351	G	A	DNAH11	c.9707G>A	NM_001277115.2	NP_001264044.1:p.(Arg3236Gln)	NC_000007.13:g.21826351G>A	VUS	1 lab	9c8f6fca26
2:21230765 APOB A>G	2	21230765	21230765	A	G	APOB	c.8975T>C	NM_000384.3	NP_000375.3:p.(Val2992Ala)	NC_000002.11:g.21230765A>G	VUS	1 lab	9cabdd7169
22:50629925 MISSING Ref too long to show for this DEL>C	22	50629925	51219009	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.50629926_51219009del	(Likely) pathogenic	1 lab	9c90693c4f
2:73680323 ALMS1 A>G	2	73680323	73680323	A	G	ALMS1	c.6672A>G	NM_015120.4	NP_055935.4:p.(Leu2224=)	NC_000002.11:g.73680323A>G	(Likely) benign	1 lab	9c92c6776e
16:46763031 MYLK3 G>A	16	46763031	46763031	G	A	MYLK3	c.1677C>T	NM_182493.3	NP_872299.2:p.(Asn559=)	NC_000016.9:g.46763031G>A	(Likely) benign	1 lab	9c93005f2b
X:53459034 HSD17B10 G>A	X	53459034	53459034	G	A	HSD17B10	c.388C>T	NM_004493.3	NP_004484.1:p.(Arg130Cys)	NC_000023.10:g.53459034G>A	(Likely) pathogenic	1 lab	9cbd9d89fe
2:5274854 MISSING Ref too long to show for this DEL>G	2	5274854	9866071	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.5274855_9866071del	(Likely) pathogenic	1 lab	9c95826c3f
6:100838933 SIM1 A>G	6	100838933	100838933	A	G	SIM1	c.1605T>C	NM_005068.3	NP_005059.2:p.(Ser535=)	NC_000006.11:g.100838933A>G	(Likely) benign	1 lab	9c9a7b9707
17:75485014 SEPTIN9 A>C	17	75485014	75485014	A	C	SEPTIN9	c.1208+68A>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75485014A>C	(Likely) benign	1 lab	9c9ac711a0
16:923842 LMF1 A>G	16	923842	923842	A	G	LMF1	c.499-2501T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.923842A>G	(Likely) benign	1 lab	9c9cb244de
1:75009663 TNNI3K C>G	1	75009663	75009663	C	G	TNNI3K	c.2505C>G	NM_015978.3	NP_057062.1:p.(Ser835Arg)	NC_000001.10:g.75009663C>G	VUS	1 lab	9c9fe7fa30
16:67974296 LCAT G>A	16	67974296	67974296	G	A	LCAT	c.834C>T	NM_000229.2	NP_000220.1:p.(Pro278=)	NC_000016.9:g.67974296G>A	(Likely) benign	1 lab	9ca80dbe92
X:25031496 ARX C>G	X	25031496	25031496	C	G	ARX	c.616G>C	NM_139058.3	NP_620689.1:p.(Gly206Arg)	NC_000023.10:g.25031496C>G	VUS	1 lab	9ca8261cfa
19:47260112 FKRP C>T	19	47260112	47260112	C	T	FKRP	c.1405C>T	NM_001039885.3	NP_001034974.1:p.(Leu469=)	NC_000019.9:g.47260112C>T	(Likely) benign	1 lab	9caf2f63e3
4:120107098 MYOZ2 G>GTTT	4	120107098	120107108	G	GTTT	MYOZ2	c.561-15_561-13dup	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120107106_120107108dup	(Likely) benign	1 lab	9caff7ef17
10:78299482 MISSING Ref too long to show for this DEL>G	10	78299482	78367860	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.78299483_78367860del	VUS	1 lab	9cba070192
19:11224781 LDLR CA>C	19	11224781	11224798	CA	C	LDLR	c.1586+360del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224798del	(Likely) benign	1 lab	9cbd2af52d
19:48342824 CRX C>G	19	48342824	48342824	C	G	CRX	c.500C>G	NM_000554.6	NP_000545.1:p.(Ser167Ter)	NC_000019.9:g.48342824C>G	(Likely) pathogenic	1 lab	9cbd3af417
11:108168126 ATM C>T	11	108168126	108168126	C	T	ATM	c.5005+17C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108168126C>T	(Likely) benign	1 lab	9cbee5c94c
18:47110080 LIPG C>T	18	47110080	47110080	C	T	LIPG	c.1312C>T	NM_006033.4	NP_006024.1:p.(Arg438Cys)	NC_000018.9:g.47110080C>T	VUS	1 lab	9cc1595609
1:3331108 PRDM16 C>T	1	3331108	3331108	C	T	PRDM16	c.2604-16C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3331108C>T	(Likely) benign	1 lab	9cc57359bf
11:66616755 PC A>G	11	66616755	66616755	A	G	PC	c.3234T>C	NM_001040716.2	NP_001035806.1:p.(Phe1078=)	NC_000011.9:g.66616755A>G	(Likely) benign	1 lab	9cc6b1f275
20:13140743 SPTLC3 T>C	20	13140743	13140743	T	C	SPTLC3	c.1509T>C	NM_018327.4	NP_060797.2:p.(Cys503=)	NC_000020.10:g.13140743T>C	(Likely) benign	1 lab	9cc6b95da7
2:32361636 SPAST G>A	2	32361636	32361636	G	A	SPAST	c.1250G>A	NM_014946.4	NP_055761.2:p.(Gly417Glu)	NC_000002.11:g.32361636G>A	(Likely) pathogenic	1 lab	9ccf073065
17:41245685 BRCA1 A>G	17	41245685	41245685	A	G	BRCA1	c.1863T>C	NM_007294.4	NP_009225.1:p.(His621=)	NC_000017.10:g.41245685A>G	(Likely) benign	1 lab	9cd0dda64a
8:1833804 ARHGEF10 C>T	8	1833804	1833804	C	T	ARHGEF10	c.1188C>T	NM_001308153.2	NP_001295082.1:p.(Phe396=)	NC_000008.10:g.1833804C>T	(Likely) benign	1 lab	9cd78cf6b8
19:38948773 RYR1 G>A	19	38948773	38948773	G	A	RYR1	c.2008G>A	NM_000540.3	NP_000531.2:p.(Val670Met)	NC_000019.9:g.38948773G>A	VUS	1 lab	9cdd3e76df
15:91292968 BLM T>C	15	91292968	91292968	T	C	BLM	c.470T>C	NM_000057.4	NP_000048.1:p.(Met157Thr)	NC_000015.9:g.91292968T>C	VUS	1 lab	9cded7b345
1:55529153 PCSK9 C>T	1	55529153	55529153	C	T	PCSK9	c.1975C>T	NM_174936.4	NP_777596.2:p.(Arg659Trp)	NC_000001.10:g.55529153C>T	VUS	1 lab	9cded9a7d1
15:72955038 GOLGA6B G>T	15	72955038	72955038	G	T	GOLGA6B	c.1293G>T	NM_018652.4	NP_061122.4:p.(Ala431=)	NC_000015.9:g.72955038G>T	(Likely) benign	1 lab	9cdf09f357
18:29104842 DSG2 C>T	18	29104842	29104842	C	T	DSG2	c.1005C>T	NM_001943.5	NP_001934.2:p.(Thr335=)	NC_000018.9:g.29104842C>T	(Likely) benign	1 lab	9ce30efd65
10:90703627 ACTA2 G>C	10	90703627	90703627	G	C	ACTA2	c.296C>G	NM_001141945.2	NP_001135417.1:p.(Ala99Gly)	NC_000010.10:g.90703627G>C	VUS	1 lab	9ce8123cb7
2:179459204 TTN C>G	2	179459204	179459204	C	G	TTN	c.50313G>C	NM_133378.4	NP_596869.4:p.(Leu16771Phe)	NC_000002.11:g.179459204C>G	VUS	1 lab	9cea2eda26
5:80037285 MSH3 A>C	5	80037285	80037285	A	C	MSH3	c.1571A>C	NM_002439.5	NP_002430.3:p.(Asn524Thr)	NC_000005.9:g.80037285A>C	(Likely) benign	1 lab	9cf74b3be9
17:80477811 FOXK2 CGGGCGGCGGGGCCGG>C	17	80477811	80477851	CGGGCGGCGGGGCCGG	C	FOXK2	c.73_87del	NM_004514.4	NP_004505.2:p.(Ala25_Gly29del)	NC_000017.10:g.80477837_80477851del	(Likely) benign	1 lab	9cfbe0de22
4:15987673 PROM1 G>C	4	15987673	15987673	G	C	PROM1	c.2104-13C>G	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15987673G>C	VUS	1 lab	9cfc9c5aa7
6:17669262 NUP153 GA>G	6	17669262	17669276	GA	G	NUP153	c.1015-4del	NM_001278209.2	NP_001265138.1:p.?	NC_000006.11:g.17669276del	(Likely) benign	1 lab	9d00c42add
2:39294752 SOS1 GACA>G	2	39294752	39294758	GACA	G	SOS1	c.213+14_213+16del	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39294756_39294758del	(Likely) benign	1 lab	9d012c7d04
X:53349953 IQSEC2 G>A	X	53349953	53349953	G	A	IQSEC2	c.369C>T	NM_001111125.3	NP_001104595.1:p.(Tyr123=)	NC_000023.10:g.53349953G>A	(Likely) benign	1 lab	9d09babbe5
11:65319874 LTBP3 T>C	11	65319874	65319874	T	C	LTBP3	c.1190A>G	NM_001130144.3	NP_001123616.1:p.(Asp397Gly)	NC_000011.9:g.65319874T>C	VUS	1 lab	9d0b5d60c2
X:9660149 TBL1X G>T	X	9660149	9660149	G	T	TBL1X	c.750-4G>T	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9660149G>T	(Likely) benign	1 lab	9d14de7cf0
X:70443788 GJB1 G>A	X	70443788	70443788	G	A	GJB1	c.231G>A	NM_000166.6	NP_000157.1:p.(Trp77Ter)	NC_000023.10:g.70443788G>A	(Likely) pathogenic	1 lab	9d173854f6
1:12018599 PLOD1 C>T	1	12018599	12018599	C	T	PLOD1	c.870C>T	NM_000302.4	NP_000293.2:p.(Val290=)	NC_000001.10:g.12018599C>T	(Likely) benign	1 lab	9d1a072c8d
11:47370459 MYBPC3 T>TTATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATAT	(Likely) benign	1 lab	9d1b52ef78
9:27229170 TEK C>T	9	27229170	27229170	C	T	TEK	c.3315C>T	NM_000459.5	NP_000450.3:p.(Thr1105=)	NC_000009.11:g.27229170C>T	(Likely) benign	1 lab	9d2034546b
7:150674986 KCNH2 C>T	7	150674986	150674986	C	T	KCNH2	c.16G>A	NM_000238.4	NP_000229.1:p.(Gly6Ser)	NC_000007.13:g.150674986C>T	VUS	1 lab	9d27ab2d29
6:112460977 LAMA4 G>A	6	112460977	112460977	G	A	LAMA4	c.3066C>T	NM_002290.5	NP_002281.3:p.(Pro1022=)	NC_000006.11:g.112460977G>A	(Likely) benign	1 lab	9d2bcd9459
5:151277057 MISSING C>Alt too long to show for this DUP	5	151277057	151353548	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.151277058_151353548dup	VUS	1 lab	9d344799f2
2:179434962 TTN C>G	2	179434962	179434962	C	G	TTN	c.68193G>C	NM_133378.4	NP_596869.4:p.(Lys22731Asn)	NC_000002.11:g.179434962C>G	VUS	1 lab	9d3766de14
11:116701850 APOC3 T>C	11	116701850	116701850	T	C	APOC3	c.179+238T>C	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701850T>C	(Likely) benign	1 lab	9d37ddf35d
1:235659621 B3GALNT2 GA>G	1	235659621	235659635	GA	G	B3GALNT2	c.113-1484del	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235659635del	(Likely) benign	1 lab	9d383786e0
15:67473697 SMAD3 C>T	15	67473697	67473697	C	T	SMAD3	c.777C>T	NM_005902.4	NP_005893.1:p.(Gly259=)	NC_000015.9:g.67473697C>T	(Likely) benign	1 lab	9d39c796c2
12:32755143 FGD4 C>T	12	32755143	32755143	C	T	FGD4	c.885C>T	NM_139241.3	NP_640334.2:p.(Phe295=)	NC_000012.11:g.32755143C>T	(Likely) benign	1 lab	9d3cc940a8
1:45444038 EIF2B3 G>A	1	45444038	45444038	G	A	EIF2B3	c.243C>T	NM_020365.5	NP_065098.1:p.(Asp81=)	NC_000001.10:g.45444038G>A	(Likely) benign	1 lab	9d3d37e7a7
10:104157171 NFKB2 G>C	10	104157171	104157171	G	C	NFKB2	c.502+6G>C	NM_001288724.1	NP_001275653.1:p.?	NC_000010.10:g.104157171G>C	(Likely) benign	1 lab	9d3f6218e0
17:42959166 EFTUD2 Ref too long to show for this DEL>T	17	42959166	42978361	Ref too long to show for this DEL	T	EFTUD2				NC_000017.10:g.42959170_42978361del	(Likely) pathogenic	1 lab	9d42099759
16:1004511 LMF1 T>C	16	1004511	1004511	T	C	LMF1	c.349A>G	NM_022773.4	NP_073610.2:p.(Met117Val)	NC_000016.9:g.1004511T>C	VUS	1 lab	9d4aadb326
10:55892621 PCDH15 A>ACC	10	55892621	55892623	A	ACC	PCDH15	c.1932+12_1932+13dup	NM_001142771.2	NP_001136243.1:p.?	NC_000010.10:g.55892622_55892623dup	(Likely) benign	1 lab	9d5022c7c4
2:21252886 APOB A>G	2	21252886	21252886	A	G	APOB	c.1354T>C	NM_000384.3	NP_000375.3:p.(Tyr452His)	NC_000002.11:g.21252886A>G	VUS	1 lab	a5988cb252
1:63069889 ANGPTL3 G>C	1	63069889	63069889	G	C	ANGPTL3	c.1181G>C	NM_014495.4	NP_055310.1:p.(Cys394Ser)	NC_000001.10:g.63069889G>C	VUS	1 lab	9d536473fa
8:10467581 RP1L1 C>CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	8	10467581	10467651	C	CTTTAGTTTCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGT	RP1L1	c.3979_4026dup	NM_178857.6	NP_849188.4:p.(Thr1327_Lys1342dup)	NC_000008.10:g.10467604_10467651dup	(Likely) benign	1 lab	9d5fffdc6b
5:40788019 MISSING C>Alt too long to show for this DUP	5	40788019	40857849	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.40788021_40857849dup	VUS	1 lab	9d60915089
11:47374180 MYBPC3 T>G	11	47374180	47374180	T	G	MYBPC3	c.19A>C	NM_000256.3	NP_000247.2:p.(Lys7Gln)	NC_000011.9:g.47374180T>G	VUS	1 lab	9d6796995f
10:95400755 PDE6C C>T	10	95400755	95400755	C	T	PDE6C	c.1816C>T	NM_006204.4	NP_006195.3:p.(His606Tyr)	NC_000010.10:g.95400755C>T	(Likely) pathogenic	1 lab	9d6a7c5c0a
12:50497873 GPD1 T>C	12	50497873	50497873	T	C	GPD1	c.40T>C	NM_005276.4	NP_005267.2:p.(Trp14Arg)	NC_000012.11:g.50497873T>C	VUS	1 lab	a0eb4584f2
12:125299664 SCARB1 T>C	12	125299664	125299664	T	C	SCARB1	c.285-4A>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125299664T>C	(Likely) benign	1 lab	9d752659c1
3:38591860 SCN5A G>A	3	38591860	38591860	G	A	SCN5A	c.6003C>T	NM_001099404.2	NP_001092874.1:p.(Leu2001=)	NC_000003.11:g.38591860G>A	(Likely) benign	1 lab	9d7534b3d5
X:85218686 CHM A>AT	X	85218686	85218687	A	AT	CHM	c.685dup	NM_000390.4	NP_000381.1:p.(Ile229AsnfsTer2)	NC_000023.10:g.85218687dup	(Likely) pathogenic	1 lab	9d76ea0e94
6:7565579 DSP A>G	6	7565579	7565579	A	G	DSP	c.778-13A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7565579A>G	VUS	1 lab	9d797892c9
4:154211954 TRIM2 A>T	4	154211954	154211954	A	T	TRIM2	c.373-2180A>T	NM_001130067.2	NP_001123539.1:p.?	NC_000004.11:g.154211954A>T	(Likely) benign	1 lab	9d7a399093
2:44104702 ABCG8 C>T	2	44104702	44104702	C	T	ABCG8	c.1759C>T	NM_022437.3	NP_071882.1:p.(Pro587Ser)	NC_000002.11:g.44104702C>T	VUS	1 lab	9d7a9cac0e
11:47372840 MYBPC3 AC>A	11	47372840	47372841	AC	A	MYBPC3	c.241del	NM_000256.3	NP_000247.2:p.(Val81SerfsTer15)	NC_000011.9:g.47372841del	(Likely) pathogenic	1 lab	9d7ad1f49d
19:11227581 LDLR CA>C	19	11227581	11227582	CA	C	LDLR	c.1753del	NM_000527.5	NP_000518.1:p.(Ile585SerfsTer80)	NC_000019.9:g.11227582del	(Likely) pathogenic	1 lab	9d879c6cb0
6:75865992 COL12A1 C>T	6	75865992	75865992	C	T	COL12A1	c.3231G>A	NM_004370.6	NP_004361.3:p.(Arg1077=)	NC_000006.11:g.75865992C>T	(Likely) benign	1 lab	9d87a54953
4:106395156 PPA2 G>T	4	106395156	106395156	G	T	PPA2	c.52C>A	NM_176869.3	NP_789845.1:p.(Leu18Met)	NC_000004.11:g.106395156G>T	(Likely) benign	1 lab	9d87dc2df5
2:239247099 TRAF3IP1 G>C	2	239247099	239247099	G	C	TRAF3IP1	c.1159+1G>C	NM_015650.4	NP_056465.2:p.?	NC_000002.11:g.239247099G>C	VUS	1 lab	9d96f0f8ba
2:21239661 APOB T>C	2	21239661	21239661	T	C	APOB	c.3122-140A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239661T>C	(Likely) benign	1 lab	9da53abd44
17:1522773 MISSING C>Alt too long to show for this DUP	17	1522773	2222480	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.1522775_2222480dup	VUS	1 lab	9da9b12af5
X:18646513 CDKL5 G>A	X	18646513	18646513	G	A	CDKL5	c.2519G>A	NM_001323289.2	NP_001310218.1:p.(Arg840His)	NC_000023.10:g.18646513G>A	VUS	1 lab	9dab9b53ac
19:11224429 LDLR C>T	19	11224429	11224429	C	T	LDLR	c.1577C>T	NM_000527.5	NP_000518.1:p.(Pro526Leu)	NC_000019.9:g.11224429C>T	VUS	1 lab	9db0e4b264
6:142418534 NMBR Ref too long to show for this DEL>C	6	142418534	142431788	Ref too long to show for this DEL	C	NMBR	c.-663-21330_-663-8077del	NM_002511.4	NP_002502.2:p.?	NC_000006.11:g.142418535_142431788del	VUS	1 lab	9db41d1963
1:6537598 PLEKHG5 G>T	1	6537598	6537598	G	T	PLEKHG5	c.34C>A	NM_198681.4	NP_941374.3:p.(Pro12Thr)	NC_000001.10:g.6537598G>T	VUS	1 lab	9db5fa64c4
4:114276500 ANK2 G>A	4	114276500	114276500	G	A	ANK2	c.6726G>A	NM_001148.6	NP_001139.3:p.(Thr2242=)	NC_000004.11:g.114276500G>A	(Likely) benign	1 lab	9db8932978
18:58039062 MC4R C>T	18	58039062	58039062	C	T	MC4R	c.521G>A	NM_005912.3	NP_005903.2:p.(Trp174Ter)	NC_000018.9:g.58039062C>T	(Likely) pathogenic	1 lab	9dc1d0c7ca
X:70443813 GJB1 A>G	X	70443813	70443813	A	G	GJB1	c.256A>G	NM_000166.6	NP_000157.1:p.(Thr86Ala)	NC_000023.10:g.70443813A>G	(Likely) pathogenic	1 lab	9dcc184231
17:39921284 JUP G>A	17	39921284	39921284	G	A	JUP	c.945C>T	NM_002230.4	NP_002221.1:p.(Leu315=)	NC_000017.10:g.39921284G>A	(Likely) benign	1 lab	9dce3cbdb4
12:125294818 SCARB1 G>A	12	125294818	125294818	G	A	SCARB1	c.744C>T	NM_001367981.1	NP_001354910.1:p.(Ser248=)	NC_000012.11:g.125294818G>A	(Likely) benign	1 lab	9dd13e47fb
11:116707862 APOA1 G>A	11	116707862	116707862	G	A	APOA1	c.55C>T	NM_001318017.2	NP_001304946.1:p.(Arg19Trp)	NC_000011.9:g.116707862G>A	VUS	1 lab	9dd43f6f81
9:130581902 ENG C>T	9	130581902	130581902	C	T	ENG	c.1310G>A	NM_000118.3	NP_000109.1:p.(Arg437Gln)	NC_000009.11:g.130581902C>T	(Likely) pathogenic	1 lab	9dd56244b7
19:55377343 KIR3DL2 C>T	19	55377343	55377343	C	T	KIR3DL2	c.1084C>T	NM_006737.4	NP_006728.2:p.(Arg362Cys)	NC_000019.9:g.55377343C>T	(Likely) benign	1 lab	9dde773212
20:25300924 ABHD12 G>A	20	25300924	25300924	G	A	ABHD12	c.453C>T	NM_001042472.3	NP_001035937.1:p.(Asn151=)	NC_000020.10:g.25300924G>A	(Likely) benign	1 lab	9de240a1a2
2:238025256 MISSING C>Alt too long to show for this DUP	2	238025256	238539026	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.238025257_238539026dup	VUS	1 lab	9def523c47
18:47101589 LIPG T>C	18	47101589	47101589	T	C	LIPG	c.572-150T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47101589T>C	(Likely) benign	1 lab	9df3a95ee4
15:34529776 SLC12A6 A>G	15	34529776	34529776	A	G	SLC12A6	c.2776-25T>C	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34529776A>G	(Likely) benign	1 lab	9df6c6dada
18:47093790 LIPG C>T	18	47093790	47093790	C	T	LIPG	c.280-22C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47093790C>T	(Likely) benign	1 lab	9dfad383d4
1:196642969 CFH C>CTTT	1	196642969	196642978	C	CTTT	CFH	c.245-11_245-9dup	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196642976_196642978dup	(Likely) benign	1 lab	9dfd94e07c
12:69983268 CCT2 C>T	12	69983268	69983268	C	T	CCT2	c.309C>T	NM_001198842.2	NP_001185771.1:p.(Ser103=)	NC_000012.11:g.69983268C>T	(Likely) benign	1 lab	9dfdfc17cb
17:15134351 PMP22 C>T	17	15134351	15134351	C	T	PMP22	c.366G>A	NM_000304.4	NP_000295.1:p.(Pro122=)	NC_000017.10:g.15134351C>T	(Likely) benign	1 lab	9e04216cb9
1:201334784 TNNT2 T>C	1	201334784	201334784	T	C	TNNT2	c.218A>G	NM_001276347.2	NP_001263276.1:p.(Asn73Ser)	NC_000001.10:g.201334784T>C	VUS	1 lab	9e0616b490
10:90703446 ACTA2 G>A	10	90703446	90703446	G	A	ACTA2	c.369+108C>T	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90703446G>A	(Likely) benign	1 lab	9e097e05cf
16:15814008 MYH11 C>T	16	15814008	15814008	C	T	MYH11	c.4974G>A	NM_001040113.2	NP_001035202.1:p.(Gln1658=)	NC_000016.9:g.15814008C>T	VUS	1 lab	9e0c2b10bc
6:123759243 TRDN C>T	6	123759243	123759243	C	T	TRDN	c.1016G>A	NM_006073.4	NP_006064.2:p.(Ser339Asn)	NC_000006.11:g.123759243C>T	(Likely) benign	1 lab	9e0d6fb55b
16:15815476 MYH11 T>C	16	15815476	15815476	T	C	MYH11	c.4381A>G	NM_002474.3	NP_002465.1:p.(Lys1461Glu)	NC_000016.9:g.15815476T>C	VUS	1 lab	9e10980366
19:45451780 APOC2 A>G	19	45451780	45451780	A	G	APOC2	c.45A>G	NM_000483.5	NP_000474.2:p.(Val15=)	NC_000019.9:g.45451780A>G	(Likely) benign	1 lab	9e486d701e
19:11233897 LDLR A>AAGGTCAGCTCCAC	19	11233897	11233912	A	AAGGTCAGCTCCAC	LDLR	c.2191_2203dup	NM_000527.5	NP_000518.1:p.(Ala735GlyfsTer51)	NC_000019.9:g.11233900_11233912dup	(Likely) pathogenic	1 lab	9e1294aeb1
X:100486646 DRP2 A>G	X	100486646	100486646	A	G	DRP2	c.10A>G	NM_001939.3	NP_001930.2:p.(Met4Val)	NC_000023.10:g.100486646A>G	VUS	1 lab	9e173cee06
19:15281126 NOTCH3 C>T	19	15281126	15281126	C	T	NOTCH3	c.5114+16G>A	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15281126C>T	(Likely) benign	1 lab	9e18f24ec9
17:48275336 COL1A1 CA>C	17	48275336	48275337	CA	C	COL1A1	c.615del	NM_000088.4	NP_000079.2:p.(Gly206ValfsTer59)	NC_000017.10:g.48275337del	(Likely) pathogenic	1 lab	9e1fe07406
6:79770220 PHIP A>T	6	79770220	79770220	A	T	PHIP	c.414T>A	NM_017934.7	NP_060404.4:p.(Val138=)	NC_000006.11:g.79770220A>T	(Likely) benign	1 lab	9e2423397b
2:225622544 MISSING Ref too long to show for this DEL>C	2	225622544	229791588	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.225622545_229791588del	VUS	1 lab	9e26bdb05f
20:45402377 MISSING G>Alt too long to show for this DUP	20	45402377	45793470	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.45402378_45793470dup	VUS	1 lab	9e26d8c0ce
2:166898938 SCN1A T>TA	2	166898938	166898947	T	TA	SCN1A	c.2044-5dup	NM_001202435.3	NP_001189364.1:p.?	NC_000002.11:g.166898947dup	(Likely) benign	1 lab	9e297fb7a0
19:38015941 MISSING T>Alt too long to show for this DUP	19	38015941	38071135	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.38015942_38071135dup	VUS	1 lab	9e299229a7
1:236882460 ACTN2 A>G	1	236882460	236882460	A	G	ACTN2	c.361+147A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236882460A>G	(Likely) benign	1 lab	9e3df02408
8:144295717 GPIHBP1 G>C	8	144295717	144295717	G	C	GPIHBP1	c.73G>C	NM_178172.6	NP_835466.2:p.(Glu25Gln)	NC_000008.10:g.144295717G>C	VUS	1 lab	9e3dfb44af
6:44227810 NFKBIE C>T	6	44227810	44227810	C	T	NFKBIE	c.990G>A	NM_004556.3	NP_004547.3:p.(Glu330=)	NC_000006.11:g.44227810C>T	(Likely) benign	1 lab	9e457491f9
22:46860223 CELSR1 C>T	22	46860223	46860223	C	T	CELSR1	c.3564G>A	NM_001378328.1	NP_001365257.1:p.(Thr1188=)	NC_000022.10:g.46860223C>T	(Likely) benign	1 lab	9e8cacca48
13:28496921 MISSING C>Alt too long to show for this DUP	13	28496921	28524161	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.28496922_28524161dup	VUS	1 lab	9e531ee2ab
7:94227319 SGCE TA>T	7	94227319	94227331	TA	T	SGCE	c.1254-4del	NM_001099401.2	NP_001092871.1:p.?	NC_000007.13:g.94227331del	(Likely) benign	1 lab	9e57e63df2
X:32328184 DMD G>A	X	32328184	32328184	G	A	DMD	c.5748+15C>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32328184G>A	(Likely) benign	1 lab	9e5c511771
16:1020874 LMF1 C>T	16	1020874	1020874	C	T	LMF1	c.107G>A	NM_022773.4	NP_073610.2:p.(Gly36Asp)	NC_000016.9:g.1020874C>T	(Likely) benign	1 lab	9e6bea2733
19:11231045 LDLR G>A	19	11231045	11231045	G	A	LDLR	c.1988-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231045G>A	(Likely) pathogenic	1 lab	9e6da4b13a
2:44104755 ABCG8 G>A	2	44104755	44104755	G	A	ABCG8	c.1812G>A	NM_022437.3	NP_071882.1:p.(Met604Ile)	NC_000002.11:g.44104755G>A	VUS	1 lab	9e6e3f995f
6:56469588 DST C>T	6	56469588	56469588	C	T	DST	c.9838G>A	NM_001374736.1	NP_001361665.1:p.(Val3280Ile)	NC_000006.11:g.56469588C>T	(Likely) benign	1 lab	9e701fefe0
X:135290073 FHL1 A>T	X	135290073	135290073	A	T	FHL1	c.454A>T	NM_001159704.1	NP_001153176.1:p.(Thr152Ser)	NC_000023.10:g.135290073A>T	VUS	1 lab	9e7594d312
1:55521827 PCSK9 G>A	1	55521827	55521827	G	A	PCSK9	c.961G>A	NM_174936.4	NP_777596.2:p.(Asp321Asn)	NC_000001.10:g.55521827G>A	VUS	1 lab	9e774cb2fc
9:21859379 MTAP T>G	9	21859379	21859379	T	G	MTAP	c.768T>G	NM_002451.4	NP_002442.2:p.(Pro256=)	NC_000009.11:g.21859379T>G	(Likely) benign	1 lab	9e797fd1bf
3:121544883 IQCB1 T>C	3	121544883	121544883	T	C	IQCB1	c.393+15A>G	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121544883T>C	(Likely) benign	1 lab	9e79b17417
7:91671481 AKAP9 A>G	7	91671481	91671481	A	G	AKAP9	c.5039A>G	NM_005751.5	NP_005742.4:p.(Asn1680Ser)	NC_000007.13:g.91671481A>G	(Likely) benign	1 lab	9e7b9f054a
2:85536276 TCF7L1 G>A	2	85536276	85536276	G	A	TCF7L1	c.1458G>A	NM_031283.3	NP_112573.1:p.(Leu486=)	NC_000002.11:g.85536276G>A	(Likely) benign	1 lab	9e7ca681b5
2:202580406 ALS2 C>G	2	202580406	202580406	C	G	ALS2	c.3993G>C	NM_020919.4	NP_065970.2:p.(Gln1331His)	NC_000002.11:g.202580406C>G	(Likely) benign	1 lab	9e843e474e
15:72104216 NR2E3 C>T	15	72104216	72104216	C	T	NR2E3	c.349+7C>T	NM_016346.4	NP_057430.1:p.?	NC_000015.9:g.72104216C>T	(Likely) benign	1 lab	9e8b5bd142
9:107594980 ABCA1 C>T	9	107594980	107594980	C	T	ABCA1	c.1384G>A	NM_005502.4	NP_005493.2:p.(Asp462Asn)	NC_000009.11:g.107594980C>T	VUS	1 lab	9e90b4cd30
19:11218157 LDLR C>T	19	11218157	11218157	C	T	LDLR	c.907C>T	NM_000527.5	NP_000518.1:p.(Arg303Trp)	NC_000019.9:g.11218157C>T	VUS	1 lab	9e95558891
12:125270792 SCARB1 T>C	12	125270792	125270792	T	C	SCARB1	c.1512A>G	NM_001367981.1	NP_001354910.1:p.(Pro504=)	NC_000012.11:g.125270792T>C	(Likely) benign	1 lab	9e9990fea6
2:21230663 APOB T>C	2	21230663	21230663	T	C	APOB	c.9077A>G	NM_000384.3	NP_000375.3:p.(Asn3026Ser)	NC_000002.11:g.21230663T>C	VUS	1 lab	9e9a5aa30b
17:45216216 CDC27 A>G	17	45216216	45216216	A	G	CDC27	c.1611T>C	NM_001114091.4	NP_001107563.1:p.(Tyr537=)	NC_000017.10:g.45216216A>G	(Likely) benign	1 lab	9e9b5bc489
12:7241318 C1R C>A	12	7241318	7241318	C	A	C1R	c.926G>T	NM_001733.7	NP_001724.4:p.(Cys309Phe)	NC_000012.11:g.7241318C>A	(Likely) pathogenic	1 lab	9e9e307fee
13:32914144 BRCA2 T>C	13	32914144	32914144	T	C	BRCA2	c.5652T>C	NM_000059.4	NP_000050.3:p.(Ile1884=)	NC_000013.10:g.32914144T>C	(Likely) benign	1 lab	9ea1f9a57d
10:94366464 KIF11 C>T	10	94366464	94366464	C	T	KIF11	c.299C>T	NM_004523.4	NP_004514.2:p.(Thr100Ile)	NC_000010.10:g.94366464C>T	(Likely) pathogenic	1 lab	9ea86d47ad
19:50331754 MED25 C>T	19	50331754	50331754	C	T	MED25	c.354C>T	NM_030973.4	NP_112235.2:p.(Leu118=)	NC_000019.9:g.50331754C>T	(Likely) benign	1 lab	9eabe3ee5c
11:68675795 IGHMBP2 C>T	11	68675795	68675795	C	T	IGHMBP2	c.439C>T	NM_002180.3	NP_002171.2:p.(Arg147Ter)	NC_000011.9:g.68675795C>T	(Likely) pathogenic	1 lab	9eae60d919
6:75857473 COL12A1 T>C	6	75857473	75857473	T	C	COL12A1	c.4335A>G	NM_004370.6	NP_004361.3:p.(Lys1445=)	NC_000006.11:g.75857473T>C	(Likely) benign	1 lab	9eb3934a5f
X:114880404 PLS3 T>C	X	114880404	114880404	T	C	PLS3	c.1275T>C	NM_005032.7	NP_005023.2:p.(Asp425=)	NC_000023.10:g.114880404T>C	(Likely) benign	1 lab	9eb742a792
14:21793064 RPGRIP1 A>T	14	21793064	21793064	A	T	RPGRIP1	c.2050A>T	NM_020366.4	NP_065099.3:p.(Met684Leu)	NC_000014.8:g.21793064A>T	(Likely) benign	1 lab	9eb7587b38
7:21678620 DNAH11 CT>C	7	21678620	21678622	CT	C	DNAH11	c.4883del	NM_001277115.2	NP_001264044.1:p.(Phe1628SerfsTer22)	NC_000007.13:g.21678622del	(Likely) pathogenic	1 lab	9eb8487c0d
2:44079970 ABCG8 C>G	2	44079970	44079970	C	G	ABCG8	c.927C>G	NM_022437.3	NP_071882.1:p.(Tyr309Ter)	NC_000002.11:g.44079970C>G	(Likely) pathogenic	1 lab	9ec772bb26
X:138744799 MISSING C>Alt too long to show for this DUP	X	138744799	139496216	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.138744800_139496216dup	VUS	1 lab	9ececb56dd
2:44101606 ABCG8 C>T	2	44101606	44101606	C	T	ABCG8	c.1472C>T	NM_022437.3	NP_071882.1:p.(Pro491Leu)	NC_000002.11:g.44101606C>T	VUS	1 lab	9eceef9f95
7:91700279 AKAP9 C>G	7	91700279	91700279	C	G	AKAP9	c.6568C>G	NM_005751.5	NP_005742.4:p.(Gln2190Glu)	NC_000007.13:g.91700279C>G	VUS	1 lab	9ed308304f
2:179458023 TTN T>C	2	179458023	179458023	T	C	TTN	c.58912A>G	NM_001267550.2	NP_001254479.2:p.(Lys19638Glu)	NC_000002.11:g.179458023T>C	VUS	1 lab	9ed49013fb
15:72050377 THSD4 C>T	15	72050377	72050377	C	T	THSD4	c.2552C>T	NM_024817.2	NP_079093.2:p.(Thr851Met)	NC_000015.9:g.72050377C>T	VUS	1 lab	9ed682d610
15:85400986 ALPK3 T>G	15	85400986	85400986	T	G	ALPK3	c.3017T>G	NM_020778.5	NP_065829.4:p.(Leu1006Arg)	NC_000015.9:g.85400986T>G	VUS	1 lab	9ee176c6fb
10:64573252 EGR2 A>C	10	64573252	64573252	A	C	EGR2	c.1146T>G	NM_000399.5	NP_000390.2:p.(Ser382Arg)	NC_000010.10:g.64573252A>C	(Likely) pathogenic	1 lab	9ee4f62d73
14:23857222 MYH6 G>C	14	23857222	23857222	G	C	MYH6	c.4360-90C>G	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857222G>C	(Likely) benign	1 lab	9ee536ceef
9:107592970 ABCA1 CA>C	9	107592970	107592981	CA	C	ABCA1	c.1892+235del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107592981del	(Likely) benign	1 lab	9ee8435fd2
11:1272797 MUC5B G>T	11	1272797	1272797	G	T	MUC5B	c.14687G>T	NM_002458.3	NP_002449.2:p.(Ser4896Ile)	NC_000011.9:g.1272797G>T	(Likely) benign	1 lab	9ee95a768b
10:94392459 KIF11 A>T	10	94392459	94392459	A	T	KIF11	c.1702+9A>T	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94392459A>T	(Likely) benign	1 lab	9ef8ab1c99
X:70361183 MED12 C>T	X	70361183	70361183	C	T	MED12	c.6371C>T	NM_005120.3	NP_005111.2:p.(Ala2124Val)	NC_000023.10:g.70361183C>T	VUS	1 lab	9efb7590ad
4:110662083 CFI A>G	4	110662083	110662083	A	G	CFI	c.1718T>C	NM_000204.5	NP_000195.3:p.(Val573Ala)	NC_000004.11:g.110662083A>G	VUS	1 lab	9efdef1621
14:81558891 TSHR C>G	14	81558891	81558891	C	G	TSHR	c.484C>G	NM_000369.4	NP_000360.2:p.(Pro162Ala)	NC_000014.8:g.81558891C>G	(Likely) pathogenic	1 lab	9f002a992f
14:80669639 DIO2 TA>T	14	80669639	80669654	TA	T	DIO2	c.223-9del	NM_000793.6	NP_000784.3:p.?	NC_000014.8:g.80669654del	(Likely) benign	1 lab	9f027c10fa
6:85446946 TBX18 G>C	6	85446946	85446946	G	C	TBX18	c.1281C>G	NM_001080508.3	NP_001073977.1:p.(Leu427=)	NC_000006.11:g.85446946G>C	(Likely) benign	1 lab	9f071673dd
4:47746602 CORIN TA>T	4	47746602	47746615	TA	T	CORIN	c.618-3del	NM_006587.4	NP_006578.2:p.?	NC_000004.11:g.47746615del	(Likely) benign	1 lab	9f194b836b
7:91752584 CYP51A1 A>G	7	91752584	91752584	A	G	CYP51A1	c.936T>C	NM_000786.4	NP_000777.1:p.(Ile312=)	NC_000007.13:g.91752584A>G	(Likely) benign	1 lab	9f1a6cd81e
19:11227533 LDLR A>T	19	11227533	11227533	A	T	LDLR	c.1706-2A>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227533A>T	(Likely) pathogenic	1 lab	9f319a3a6e
16:67977043 LCAT C>T	16	67977043	67977043	C	T	LCAT	c.227G>A	NM_000229.2	NP_000220.1:p.(Arg76His)	NC_000016.9:g.67977043C>T	VUS	1 lab	9f329b468d
11:6412854 SMPD1 C>T	11	6412854	6412854	C	T	SMPD1	c.559C>T	NM_001318087.2	NP_001305016.1:p.(Pro187Ser)	NC_000011.9:g.6412854C>T	(Likely) benign	1 lab	9f38d2e55e
5:90449130 ADGRV1 G>A	5	90449130	90449130	G	A	ADGRV1	c.18717G>A	NM_032119.4	NP_115495.3:p.(Pro6239=)	NC_000005.9:g.90449130G>A	(Likely) benign	1 lab	9f3e8ab956
10:25237082 MISSING G>Alt too long to show for this DUP	10	25237082	25360217	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.25237085_25360217dup	VUS	1 lab	9f46c4d071
20:15055852 MACROD2 Ref too long to show for this DEL>T	20	15055852	15345533	Ref too long to show for this DEL	T	MACROD2	c.419-154728_541-66517del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.15055858_15345533del	VUS	1 lab	9f4765584b
19:7593571 MCOLN1 A>C	19	7593571	7593571	A	C	MCOLN1	c.966A>C	NM_020533.3	NP_065394.1:p.(Arg322=)	NC_000019.9:g.7593571A>C	(Likely) benign	1 lab	9f51c5cb34
14:76184287 TTLL5 A>G	14	76184287	76184287	A	G	TTLL5	c.824A>G	NM_015072.5	NP_055887.3:p.(Lys275Arg)	NC_000014.8:g.76184287A>G	VUS	1 lab	9f52ebfb8c
8:133909927 TG C>T	8	133909927	133909927	C	T	TG	c.3035C>T	NM_003235.5	NP_003226.4:p.(Pro1012Leu)	NC_000008.10:g.133909927C>T	(Likely) benign	1 lab	9f559af56c
11:108235941 ATM C>A	11	108235941	108235941	C	A	ATM	c.8983C>A	NM_000051.4	NP_000042.3:p.(Leu2995Ile)	NC_000011.9:g.108235941C>A	(Likely) benign	1 lab	9f56171c93
9:21333026 KLHL9 T>C	9	21333026	21333026	T	C	KLHL9	c.1833A>G	NM_018847.4	NP_061335.1:p.(Ser611=)	NC_000009.11:g.21333026T>C	(Likely) benign	1 lab	9f5b8dba71
8:24811267 NEFL G>A	8	24811267	24811267	G	A	NEFL	c.1212C>T	NM_006158.5	NP_006149.2:p.(Ser404=)	NC_000008.10:g.24811267G>A	(Likely) benign	1 lab	9f5de26705
19:39013871 RYR1 G>A	19	39013871	39013871	G	A	RYR1	c.10362G>A	NM_000540.3	NP_000531.2:p.(Glu3454=)	NC_000019.9:g.39013871G>A	(Likely) benign	1 lab	9f666e00ae
1:103484404 COL11A1 G>A	1	103484404	103484404	G	A	COL11A1	c.1356C>T	NM_080629.3	NP_542196.2:p.(Val452=)	NC_000001.10:g.103484404G>A	(Likely) benign	1 lab	9f68aa0e91
14:23851777 MYH6 G>A	14	23851777	23851777	G	A	MYH6	c.5662-6C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23851777G>A	(Likely) benign	1 lab	9f6f7f4778
5:121413406 LOX A>G	5	121413406	121413406	A	G	LOX	c.275T>C	NM_002317.7	NP_002308.2:p.(Leu92Pro)	NC_000005.9:g.121413406A>G	VUS	1 lab	9f6f98735f
19:11227566 LDLR C>G	19	11227566	11227566	C	G	LDLR	c.1737C>G	NM_000527.5	NP_000518.1:p.(Asp579Glu)	NC_000019.9:g.11227566C>G	(Likely) pathogenic	1 lab	9f7175af5d
11:32456787 WT1 G>A	11	32456787	32456787	G	A	WT1	c.120C>T	NM_024426.6	NP_077744.4:p.(Asp40=)	NC_000011.9:g.32456787G>A	(Likely) benign	1 lab	9f71ae7569
2:21233271 APOB G>A	2	21233271	21233271	G	A	APOB	c.6469C>T	NM_000384.3	NP_000375.3:p.(Gln2157Ter)	NC_000002.11:g.21233271G>A	(Likely) pathogenic	1 lab	9f80f4d12c
19:10291169 DNMT1 C>T	19	10291169	10291169	C	T	DNMT1	c.302G>A	NM_001130823.3	NP_001124295.1:p.(Arg101Gln)	NC_000019.9:g.10291169C>T	VUS	1 lab	9f81786a89
X:100653915 GLA C>T	X	100653915	100653915	C	T	GLA	c.659G>A	NM_000169.3	NP_000160.1:p.(Arg220Gln)	NC_000023.10:g.100653915C>T	VUS	1 lab	9f82378817
1:55529100 PCSK9 C>T	1	55529100	55529100	C	T	PCSK9	c.1922C>T	NM_174936.4	NP_777596.2:p.(Thr641Ile)	NC_000001.10:g.55529100C>T	VUS	1 lab	9f824eca7d
13:20717238 GJA3 C>T	13	20717238	20717238	C	T	GJA3	c.190G>A	NM_021954.4	NP_068773.2:p.(Val64Ile)	NC_000013.10:g.20717238C>T	VUS	1 lab	9f834ddbad
21:48022919 MISSING Ref too long to show for this DEL>T	21	48022919	48056450	Ref too long to show for this DEL	T	MISSING				NC_000021.8:g.48022922_48056450del	VUS	1 lab	9f836c87a6
15:23892321 MAGEL2 GCCATCGGGGTCCCCGGAGGAGGAGGATGCA>G	15	23892321	23892379	GCCATCGGGGTCCCCGGAGGAGGAGGATGCA	G	MAGEL2	c.539_568del	NM_019066.5	NP_061939.3:p.(Val180_Met189del)	NC_000015.9:g.23892350_23892379del	(Likely) benign	1 lab	9f841c2f41
3:53845288 CACNA1D G>T	3	53845288	53845288	G	T	CACNA1D	c.6401G>T	NM_000720.4	NP_000711.1:p.(Arg2134Leu)	NC_000003.11:g.53845288G>T	(Likely) benign	1 lab	9f93b654c8
11:47353509 MYBPC3 C>T	11	47353509	47353509	C	T	MYBPC3	c.3815-77G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353509C>T	(Likely) benign	1 lab	9f98097d2c
2:62067723 FAM161A G>A	2	62067723	62067723	G	A	FAM161A	c.423-7C>T	NM_001201543.2	NP_001188472.1:p.?	NC_000002.11:g.62067723G>A	(Likely) benign	1 lab	9f99a681e1
11:74168585 KCNE3 C>T	11	74168585	74168585	C	T	KCNE3	c.24G>A	NM_005472.5	NP_005463.1:p.(Glu8=)	NC_000011.9:g.74168585C>T	(Likely) benign	1 lab	9f9ade215a
4:100521637 MTTP C>T	4	100521637	100521637	C	T	MTTP	c.1068-85C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521637C>T	(Likely) benign	1 lab	9f9c3261d2
2:179426656 TTN C>G	2	179426656	179426656	C	G	TTN	c.84203G>C	NM_001267550.2	NP_001254479.2:p.(Ser28068Thr)	NC_000002.11:g.179426656C>G	VUS	1 lab	9fa0410e69
6:7585318 DSP C>A	6	7585318	7585318	C	A	DSP	c.7823C>A	NM_004415.4	NP_004406.2:p.(Ser2608Tyr)	NC_000006.11:g.7585318C>A	VUS	1 lab	9fa2627249
9:95237024 ASPN CTCA>C	9	95237024	95237068	CTCA	C	ASPN	c.151_153=	NM_017680.5	NP_060150.4:p.(Glu51=)	NC_000009.11:g.95237066_95237068del	(Likely) benign	1 lab	9fa70918c9
8:134128880 TG C>T	8	134128880	134128880	C	T	TG	c.7782C>T	NM_003235.5	NP_003226.4:p.(Ile2594=)	NC_000008.10:g.134128880C>T	(Likely) benign	1 lab	9fa8d8319e
13:76169776 MISSING Ref too long to show for this DEL>T	13	76169776	76372057	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.76169777_76372057del	VUS	1 lab	9fab3fcff9
3:100963580 IMPG2 G>A	3	100963580	100963580	G	A	IMPG2	c.1595C>T	NM_016247.4	NP_057331.2:p.(Pro532Leu)	NC_000003.11:g.100963580G>A	VUS	1 lab	9fb4a200f0
16:30002656 TAOK2 C>T	16	30002656	30002656	C	T	TAOK2	c.2917C>T	NM_004783.4	NP_004774.1:p.(Leu973=)	NC_000016.9:g.30002656C>T	(Likely) benign	1 lab	9fbe1228c8
16:56995959 CETP C>T	16	56995959	56995959	C	T	CETP	c.68C>T	NM_000078.3	NP_000069.2:p.(Ser23Leu)	NC_000016.9:g.56995959C>T	VUS	1 lab	9fc05c4a5d
4:126240208 FAT4 T>C	4	126240208	126240208	T	C	FAT4	c.2642T>C	NM_001291303.3	NP_001278232.1:p.(Ile881Thr)	NC_000004.11:g.126240208T>C	VUS	1 lab	9fc515ddfa
X:138445250 MISSING T>Alt too long to show for this DUP	X	138445250	138684664	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.138445252_138684664dup	VUS	1 lab	9fca0be6c4
9:95483006 BICD2 T>C	9	95483006	95483006	T	C	BICD2	c.638A>G	NM_001003800.2	NP_001003800.1:p.(Lys213Arg)	NC_000009.11:g.95483006T>C	VUS	1 lab	9fca8a67db
15:28263599 OCA2 C>T	15	28263599	28263599	C	T	OCA2	c.751G>A	NM_000275.3	NP_000266.2:p.(Val251Met)	NC_000015.9:g.28263599C>T	(Likely) benign	1 lab	9fcd5043f1
1:55512289 PCSK9 C>T	1	55512289	55512289	C	T	PCSK9	c.493C>T	NM_174936.4	NP_777596.2:p.(Arg165Trp)	NC_000001.10:g.55512289C>T	(Likely) pathogenic	1 lab	9fce675b7e
3:87302890 CHMP2B G>A	3	87302890	87302890	G	A	CHMP2B	c.560G>A	NM_014043.4	NP_054762.2:p.(Ser187Asn)	NC_000003.11:g.87302890G>A	(Likely) benign	1 lab	9fd237174b
9:27197303 TEK A>T	9	27197303	27197303	A	T	TEK	c.1625-10A>T	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27197303A>T	(Likely) benign	1 lab	9fd4187c0e
16:732287 STUB1 GC>G	16	732287	732289	GC	G	STUB1	c.786+8del	NM_005861.4	NP_005852.2:p.?	NC_000016.9:g.732289del	(Likely) benign	1 lab	9fdb08040c
1:236918291 ACTN2 TC>T	1	236918291	236918292	TC	T	ACTN2	c.1975-27del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236918292del	(Likely) benign	1 lab	9fdd48672c
4:123161354 BLTP1 A>C	4	123161354	123161354	A	C	BLTP1	c.4517A>C	NM_015312.4	NP_056127.2:p.(Tyr1506Ser)	NC_000004.11:g.123161354A>C	VUS	1 lab	9fdff848a4
17:48268233 COL1A1 C>T	17	48268233	48268233	C	T	COL1A1	c.2288G>A	NM_000088.4	NP_000079.2:p.(Arg763His)	NC_000017.10:g.48268233C>T	VUS	1 lab	9fee530af0
11:121454251 SORL1 C>T	11	121454251	121454251	C	T	SORL1	c.3665C>T	NM_003105.6	NP_003096.2:p.(Thr1222Met)	NC_000011.9:g.121454251C>T	(Likely) benign	1 lab	9fefce1875
3:63975842 ATXN7 A>C	3	63975842	63975842	A	C	ATXN7	c.1362-10A>C	NM_000333.4	NP_000324.1:p.?	NC_000003.11:g.63975842A>C	(Likely) benign	1 lab	9ff099e96b
15:48937242 FBN1 G>A	15	48937242	48937242	G	A	FBN1	c.-181-95C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48937242G>A	(Likely) benign	1 lab	9ff46688ac
11:47431961 SLC39A13 G>A	11	47431961	47431961	G	A	SLC39A13	c.301+15G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47431961G>A	(Likely) benign	1 lab	9ff7ea78eb
18:10748552 PIEZO2 G>A	18	10748552	10748552	G	A	PIEZO2	c.4266C>T	NM_022068.4	NP_071351.2:p.(Leu1422=)	NC_000018.9:g.10748552G>A	(Likely) benign	1 lab	9ff8f7bb63
20:62616301 PRPF6 C>T	20	62616301	62616301	C	T	PRPF6	c.282C>T	NM_012469.4	NP_036601.2:p.(Tyr94=)	NC_000020.10:g.62616301C>T	(Likely) benign	1 lab	9ffae0d88e
20:62045525 KCNQ2 TC>T	20	62045525	62045527	TC	T	KCNQ2	c.1546del	NM_172107.4	NP_742105.1:p.(Asp516ThrfsTer13)	NC_000020.10:g.62045527del	(Likely) pathogenic	1 lab	a003324962
19:54392992 PRKCG T>G	19	54392992	54392992	T	G	PRKCG	c.386T>G	NM_002739.5	NP_002730.1:p.(Met129Arg)	NC_000019.9:g.54392992T>G	VUS	1 lab	a0066e2e6a
7:35242065 TBX20 C>T	7	35242065	35242065	C	T	TBX20	c.1321G>A	NM_001077653.2	NP_001071121.1:p.(Ala441Thr)	NC_000007.13:g.35242065C>T	(Likely) benign	1 lab	a008367cbc
1:156280943 CCT3 T>A	1	156280943	156280943	T	A	CCT3	c.1199A>T	NM_005998.5	NP_005989.3:p.(Asn400Ile)	NC_000001.10:g.156280943T>A	VUS	1 lab	a00c65af7a
16:29708541 QPRT G>A	16	29708541	29708541	G	A	QPRT	c.703G>A	NM_014298.6	NP_055113.3:p.(Val235Met)	NC_000016.9:g.29708541G>A	(Likely) benign	1 lab	a00cae492c
16:1550445 TELO2 G>T	16	1550445	1550445	G	T	TELO2	c.1100G>T	NM_016111.4	NP_057195.2:p.(Cys367Phe)	NC_000016.9:g.1550445G>T	(Likely) pathogenic	1 lab	a0124b2fe5
16:11645607 LITAF G>A	16	11645607	11645607	G	A	LITAF	c.431C>T	NM_001136473.1	NP_001129945.1:p.(Ser144Phe)	NC_000016.9:g.11645607G>A	(Likely) benign	1 lab	a014661d6c
14:23886807 MYH7 G>A	14	23886807	23886807	G	A	MYH7	c.4258C>T	NM_000257.4	NP_000248.2:p.(Arg1420Trp)	NC_000014.8:g.23886807G>A	(Likely) pathogenic	1 lab	a0153f43b8
15:58860963 LIPC C>A	15	58860963	58860963	C	A	LIPC	c.1437C>A	NM_000236.3	NP_000227.2:p.(Thr479=)	NC_000015.9:g.58860963C>A	(Likely) benign	1 lab	a0198484c2
5:115056502 MISSING A>Alt too long to show for this DUP	5	115056502	115144709	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.115056503_115144709dup	VUS	1 lab	a01a83f4f5
2:1653404 PXDN G>A	2	1653404	1653404	G	A	PXDN	c.2148C>T	NM_012293.3	NP_036425.1:p.(Leu716=)	NC_000002.11:g.1653404G>A	(Likely) benign	1 lab	a01ac83eb5
11:2608867 KCNQ1 C>T	11	2608867	2608867	C	T	KCNQ1	c.1196C>T	NM_000218.3	NP_000209.2:p.(Ala399Val)	NC_000011.9:g.2608867C>T	VUS	1 lab	a01b90a1a9
8:59404952 CYP7A1 T>C	8	59404952	59404952	T	C	CYP7A1	c.1175A>G	NM_000780.4	NP_000771.2:p.(Gln392Arg)	NC_000008.10:g.59404952T>C	VUS	1 lab	a01c0f6e83
16:29624764 MISSING C>Alt too long to show for this DUP	16	29624764	30199352	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29624766_30199352dup	(Likely) pathogenic	1 lab	a01d7aa51f
3:173152678 NLGN1 Ref too long to show for this DEL>G	3	173152678	173172094	Ref too long to show for this DEL	G	NLGN1	c.-321+36826_-321+56241del	NM_001365925.2	NP_001352854.1:p.?	NC_000003.11:g.173152679_173172094del	VUS	1 lab	a024ad70ec
22:46787694 CELSR1 A>G	22	46787694	46787694	A	G	CELSR1	c.5984T>C	NM_001378328.1	NP_001365257.1:p.(Leu1995Pro)	NC_000022.10:g.46787694A>G	(Likely) benign	1 lab	a0252780ad
14:88895799 SPATA7 C>T	14	88895799	88895799	C	T	SPATA7	c.1020C>T	NM_018418.5	NP_060888.2:p.(Ser340=)	NC_000014.8:g.88895799C>T	(Likely) benign	1 lab	a02718affb
8:1876830 ARHGEF10 A>C	8	1876830	1876830	A	C	ARHGEF10	c.2993+14A>C	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1876830A>C	(Likely) benign	1 lab	a02bf2cbb4
16:70365069 MISSING C>Alt too long to show for this DUP	16	70365069	70398722	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.70365071_70398722dup	VUS	1 lab	a030f0c650
6:127796833 MTCL3 C>T	6	127796833	127796833	C	T	MTCL3	c.2338G>A	NM_001012279.3	NP_001012279.1:p.(Glu780Lys)	NC_000006.11:g.127796833C>T	VUS	1 lab	a03356e5d9
2:179414834 TTN G>T	2	179414834	179414834	G	T	TTN	c.91731C>A	NM_001267550.2	NP_001254479.2:p.(Asp30577Glu)	NC_000002.11:g.179414834G>T	VUS	1 lab	a035d44d2b
17:14111771 MISSING Ref too long to show for this DEL>T	17	14111771	15450208	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14111773_15450208del	(Likely) pathogenic	1 lab	a03849b37d
12:48369836 COL2A1 G>A	12	48369836	48369836	G	A	COL2A1	c.3507C>T	NM_001844.5	NP_001835.3:p.(Val1169=)	NC_000012.11:g.48369836G>A	(Likely) benign	1 lab	a03c47d063
11:47370459 MYBPC3 T>TTATATATA	11	47370459	47370478	T	TTATATATA	MYBPC3	c.655-375_655-368dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370471_47370478dup	(Likely) benign	1 lab	a03d0444fa
10:52751435 PRKG1 C>G	10	52751435	52751435	C	G	PRKG1	c.266+31C>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.52751435C>G	(Likely) benign	1 lab	a03df136e0
16:88501642 ZNF469 G>A	16	88501642	88501642	G	A	ZNF469	c.7764G>A	NM_001367624.2	NP_001354553.1:p.(Pro2588=)	NC_000016.9:g.88501642G>A	(Likely) benign	1 lab	a04108050c
3:38629080 SCN5A G>C	3	38629080	38629080	G	C	SCN5A	c.2263-16C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38629080G>C	(Likely) benign	1 lab	a041dd15c7
19:45139532 MISSING G>Alt too long to show for this DUP	19	45139532	45295123	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.45139533_45295123dup	VUS	1 lab	a047defbcf
1:115828737 NGF G>T	1	115828737	115828737	G	T	NGF	c.680C>A	NM_002506.3	NP_002497.2:p.(Thr227Lys)	NC_000001.10:g.115828737G>T	(Likely) pathogenic	1 lab	a04976712a
8:194616 MISSING Ref too long to show for this DEL>C	8	194616	6925910	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.194617_6925910del	(Likely) pathogenic	1 lab	a04af2c335
6:136596842 BCLAF1 G>GTTAGAATCATCAAGA	6	136596842	136596843	G	GTTAGAATCATCAAGA	BCLAF1	c.1683-4_1683-3insTCTTGATGATTCTAA	NM_014739.3	NP_055554.1:p.?	NC_000006.11:g.136596842_136596843insTTAGAATCATCAAGA	(Likely) benign	1 lab	a051a4b3aa
X:20190953 RPS6KA3 A>C	X	20190953	20190953	A	C	RPS6KA3	c.1264T>G	NM_004586.3	NP_004577.1:p.(Tyr422Asp)	NC_000023.10:g.20190953A>C	(Likely) pathogenic	1 lab	a0545c6cb5
10:18439808 CACNB2 T>TTTTTTTTTG	10	18439808	18439810	T	TTTTTTTTTG	CACNB2	c.37-3_37-2insTTTTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTTTTGT	(Likely) benign	1 lab	a054e1d101
2:73717961 ALMS1 G>C	2	73717961	73717961	G	C	ALMS1	c.8878G>C	NM_015120.4	NP_055935.4:p.(Asp2960His)	NC_000002.11:g.73717961G>C	VUS	1 lab	a05a38ac78
3:38949471 SCN11A C>T	3	38949471	38949471	C	T	SCN11A	c.1442G>A	NM_014139.3	NP_054858.2:p.(Gly481Glu)	NC_000003.11:g.38949471C>T	(Likely) benign	1 lab	a0604e8f3f
16:1561171 IFT140 A>G	16	1561171	1561171	A	G	IFT140	c.4183-20T>C	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1561171A>G	(Likely) benign	1 lab	a062d4f794
18:53177740 TCF4 A>T	18	53177740	53177740	A	T	TCF4	c.146-46372T>A	NM_001243228.2	NP_001230157.1:p.?	NC_000018.9:g.53177740A>T	(Likely) benign	1 lab	a064e6ca5e
2:179436919 TTN C>T	2	179436919	179436919	C	T	TTN	c.73940G>A	NM_001267550.2	NP_001254479.2:p.(Arg24647Gln)	NC_000002.11:g.179436919C>T	VUS	1 lab	a06e2f473b
15:28387409 HERC2 G>A	15	28387409	28387409	G	A	HERC2	c.11675C>T	NM_004667.6	NP_004658.3:p.(Pro3892Leu)	NC_000015.9:g.28387409G>A	VUS	1 lab	a072f9f2fb
9:140728980 EHMT1 C>T	9	140728980	140728980	C	T	EHMT1	c.3716+4C>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140728980C>T	(Likely) benign	1 lab	a074da6f69
17:15134390 PMP22 G>A	17	15134390	15134390	G	A	PMP22	c.327C>T	NM_000304.4	NP_000295.1:p.(Cys109=)	NC_000017.10:g.15134390G>A	(Likely) benign	1 lab	a07518ba7c
16:88793958 PIEZO1 C>G	16	88793958	88793958	C	G	PIEZO1	c.3301+7G>C	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793958C>G	(Likely) benign	1 lab	a07b64c97a
4:114072244 ANK2 C>G	4	114072244	114072244	C	G	ANK2	c.93C>G	NM_001354241.2	NP_001341170.1:p.(Cys31Trp)	NC_000004.11:g.114072244C>G	VUS	1 lab	a080256e1b
12:11461759 PRB4 G>T	12	11461759	11461759	G	T	PRB4	c.158C>A	NM_002723.6	NP_002714.2:p.(Pro53His)	NC_000012.11:g.11461759G>T	(Likely) benign	1 lab	a08631ce07
5:148389835 SH3TC2 G>A	5	148389835	148389835	G	A	SH3TC2	c.3325C>T	NM_024577.4	NP_078853.2:p.(Arg1109Ter)	NC_000005.9:g.148389835G>A	(Likely) pathogenic	1 lab	a08690add5
19:8196444 FBN3 C>T	19	8196444	8196444	C	T	FBN3	c.1984G>A	NM_032447.5	NP_115823.3:p.(Asp662Asn)	NC_000019.9:g.8196444C>T	(Likely) benign	1 lab	a0871e7b3f
4:55604639 KIT C>T	4	55604639	55604639	C	T	KIT	c.2847C>T	NM_000222.3	NP_000213.1:p.(Pro949=)	NC_000004.11:g.55604639C>T	(Likely) benign	1 lab	a08998b23b
2:74326583 TET3 C>T	2	74326583	74326583	C	T	TET3	c.3448C>T	NM_001287491.2	NP_001274420.1:p.(Arg1150Ter)	NC_000002.11:g.74326583C>T	(Likely) pathogenic	1 lab	a08e7165c5
11:95595544 MTMR2 A>G	11	95595544	95595544	A	G	MTMR2	c.47-14T>C	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95595544A>G	(Likely) benign	1 lab	a094e4124f
X:148267843 MISSING T>Alt too long to show for this DUP	X	148267843	148830504	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.148267844_148830504dup	(Likely) pathogenic	1 lab	a09ae51518
11:92345784 FAT3 Ref too long to show for this DEL>G	11	92345784	92411863	Ref too long to show for this DEL	G	FAT3	c.3608-84761_3608-18687del	NM_001367949.2	NP_001354878.1:p.?	NC_000011.9:g.92345789_92411863del	VUS	1 lab	a0a411876f
16:67976248 LCAT T>C	16	67976248	67976248	T	C	LCAT	c.748+18A>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976248T>C	(Likely) benign	1 lab	a0a42ea9ea
X:133512095 PHF6 A>G	X	133512095	133512095	A	G	PHF6	c.199A>G	NM_032458.3	NP_115834.1:p.(Ile67Val)	NC_000023.10:g.133512095A>G	VUS	1 lab	a0a54c7f68
3:148859081 HPS3 G>A	3	148859081	148859081	G	A	HPS3	c.885-1G>A	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148859081G>A	(Likely) pathogenic	1 lab	a0a55b3d24
8:18437637 PSD3 Ref too long to show for this DEL>C	8	18437637	18448648	Ref too long to show for this DEL	C	PSD3	c.2481+9227_2482-4843del	NM_015310.4	NP_056125.3:p.?	NC_000008.10:g.18437639_18448648del	VUS	1 lab	a0ad52a735
1:6526926 PLEKHG5 G>A	1	6526926	6526926	G	A	PLEKHG5				NC_000001.10:g.6526926G>A	(Likely) benign	1 lab	a0af7a3769
19:50753840 MYH14 G>A	19	50753840	50753840	G	A	MYH14	c.1725G>A	NM_001145809.2	NP_001139281.1:p.(Ser575=)	NC_000019.9:g.50753840G>A	(Likely) benign	1 lab	a0b326f56d
19:45452062 APOC2 G>A	19	45452062	45452062	G	A	APOC2	c.160G>A	NM_000483.5	NP_000474.2:p.(Ala54Thr)	NC_000019.9:g.45452062G>A	VUS	1 lab	a0bf58ffa8
7:150654413 KCNH2 T>C	7	150654413	150654413	T	C	KCNH2	c.1094A>G	NM_000238.4	NP_000229.1:p.(Glu365Gly)	NC_000007.13:g.150654413T>C	VUS	1 lab	a0c4237912
12:88406286 MISSING Ref too long to show for this DEL>C	12	88406286	88521489	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.88406287_88521489del	VUS	1 lab	a0c5827785
15:48722612 FBN1 G>T	15	48722612	48722612	G	T	FBN1	c.6871+256C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48722612G>T	(Likely) benign	1 lab	a0c7fc6317
16:46766142 MYLK3 G>A	16	46766142	46766142	G	A	MYLK3	c.1440C>T	NM_182493.3	NP_872299.2:p.(Ala480=)	NC_000016.9:g.46766142G>A	(Likely) benign	1 lab	a0d15a32ce
11:116707111 APOA1 T>G	11	116707111	116707111	T	G	APOA1	c.217A>C	NM_001318017.2	NP_001304946.1:p.(Asn73His)	NC_000011.9:g.116707111T>G	VUS	1 lab	a0ddf88146
1:13607860 PRAMEF8 C>T	1	13607860	13607860	C	T	PRAMEF8	c.1332G>A	NM_001012276.3	NP_001012276.2:p.(Arg444=)	NC_000001.10:g.13607860C>T	(Likely) benign	1 lab	a0e1133df3
4:73185147 ADAMTS3 C>T	4	73185147	73185147	C	T	ADAMTS3	c.1254G>A	NM_014243.3	NP_055058.2:p.(Glu418=)	NC_000004.11:g.73185147C>T	(Likely) benign	1 lab	a0e689d8a3
1:1724668 GNB1 C>T	1	1724668	1724668	C	T	GNB1	c.497+16G>A	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1724668C>T	(Likely) benign	1 lab	a0e9d9d27e
2:44078769 ABCG8 C>T	2	44078769	44078769	C	T	ABCG8	c.369C>T	NM_022437.3	NP_071882.1:p.(His123=)	NC_000002.11:g.44078769C>T	(Likely) benign	1 lab	a0ec2e5980
15:85360379 ALPK3 G>A	15	85360379	85360379	G	A	ALPK3				NC_000015.9:g.85360379G>A	(Likely) benign	1 lab	a0ecd9bac5
18:33877891 FHOD3 C>T	18	33877891	33877891	C	T	FHOD3	c.93C>T	NM_025135.5	NP_079411.2:p.(Phe31=)	NC_000018.9:g.33877891C>T	(Likely) benign	1 lab	a0eda8f53c
20:36381031 CTNNBL1 Ref too long to show for this DEL>C	20	36381031	36444265	Ref too long to show for this DEL	C	CTNNBL1	c.467-4929_1213+12815del	NM_030877.5	NP_110517.2:p.?	NC_000020.10:g.36381032_36444265del	VUS	1 lab	a0eeab700c
7:73457474 ELN G>A	7	73457474	73457474	G	A	ELN	c.403G>A	NM_000501.4	NP_000492.2:p.(Gly135Arg)	NC_000007.13:g.73457474G>A	VUS	1 lab	a59bcf88c7
14:68441669 RAD51B Ref too long to show for this DEL>T	14	68441669	68715826	Ref too long to show for this DEL	T	RAD51B	c.756+87750_757-42775del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68441671_68715826del	VUS	1 lab	a0f233b9b5
20:10653565 JAG1 G>T	20	10653565	10653565	G	T	JAG1	c.171C>A	NM_000214.3	NP_000205.1:p.(Gly57=)	NC_000020.10:g.10653565G>T	(Likely) benign	1 lab	a0f30fa609
13:103514646 ERCC5 A>G	13	103514646	103514646	A	G	ERCC5	c.1147A>G	NM_000123.4	NP_000114.3:p.(Ile383Val)	NC_000013.10:g.103514646A>G	(Likely) benign	1 lab	a0f54a87a4
2:220506436 SLC4A3 C>T	2	220506436	220506436	C	T	SLC4A3	c.3766C>T	NM_201574.3	NP_963868.3:p.(His1256Tyr)	NC_000002.11:g.220506436C>T	VUS	1 lab	a0f63277ab
17:12656194 MYOCD A>G	17	12656194	12656194	A	G	MYOCD	c.1589A>G	NM_001146312.3	NP_001139784.1:p.(Glu530Gly)	NC_000017.10:g.12656194A>G	VUS	1 lab	a0f65a89aa
9:107594968 ABCA1 A>G	9	107594968	107594968	A	G	ABCA1	c.1396T>C	NM_005502.4	NP_005493.2:p.(Phe466Leu)	NC_000009.11:g.107594968A>G	VUS	1 lab	a101bf3b2d
18:48581262 SMAD4 G>A	18	48581262	48581262	G	A	SMAD4	c.566G>A	NM_005359.6	NP_005350.1:p.(Arg189His)	NC_000018.9:g.48581262G>A	(Likely) benign	1 lab	a10282b563
11:76914151 MYO7A C>A	11	76914151	76914151	C	A	MYO7A	c.5215C>A	NM_000260.4	NP_000251.3:p.(Arg1739=)	NC_000011.9:g.76914151C>A	(Likely) benign	1 lab	a105e15dd4
12:21375306 SLCO1B1 GAAAAAAAA>G	12	21375306	21375332	GAAAAAAAA	G	SLCO1B1	c.1747+27_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375325_21375332del	(Likely) benign	1 lab	a116b001f6
2:179415775 TTN T>G	2	179415775	179415775	T	G	TTN	c.91483A>C	NM_001267550.2	NP_001254479.2:p.(Arg30495=)	NC_000002.11:g.179415775T>G	(Likely) benign	1 lab	a11ec8201d
3:50155887 RBM5 TGA>T	3	50155887	50155909	TGA	T	RBM5	c.*19_*20del	NM_005778.4	NP_005769.1:p.?	NC_000003.11:g.50155908_50155909del	(Likely) benign	1 lab	a126a390b5
2:179434146 TTN G>A	2	179434146	179434146	G	A	TTN	c.76713C>T	NM_001267550.2	NP_001254479.2:p.(Val25571=)	NC_000002.11:g.179434146G>A	(Likely) benign	1 lab	a12969cdd7
11:65639613 EFEMP2 C>T	11	65639613	65639613	C	T	EFEMP2	c.111+102G>A	NM_016938.5	NP_058634.4:p.?	NC_000011.9:g.65639613C>T	(Likely) benign	1 lab	a12f9b9673
21:33038745 SOD1 C>T	21	33038745	33038745	C	T	SOD1	c.170-17C>T	NM_000454.5	NP_000445.1:p.?	NC_000021.8:g.33038745C>T	(Likely) benign	1 lab	a130c17a47
22:20785639 SCARF2 G>A	22	20785639	20785639	G	A	SCARF2	c.520C>T	NM_153334.7	NP_699165.3:p.(Pro174Ser)	NC_000022.10:g.20785639G>A	(Likely) benign	1 lab	a13138f4a7
4:15982080 PROM1 G>A	4	15982080	15982080	G	A	PROM1	c.2427C>T	NM_001145847.2	NP_001139319.1:p.(Tyr809=)	NC_000004.11:g.15982080G>A	(Likely) benign	1 lab	a1326a1aac
19:45452535 APOC2 GGA>G	19	45452535	45452540	GGA	G	APOC2	c.*33_*34del	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452539_45452540del	(Likely) benign	1 lab	a13348bc4f
11:116660970 APOA5 G>A	11	116660970	116660970	G	A	APOA5	c.975C>T	NM_052968.5	NP_443200.2:p.(Ala325=)	NC_000011.9:g.116660970G>A	(Likely) benign	1 lab	a13fbe1c04
2:179409156 TTN T>C	2	179409156	179409156	T	C	TTN	c.95800A>G	NM_001267550.2	NP_001254479.2:p.(Met31934Val)	NC_000002.11:g.179409156T>C	VUS	1 lab	a1403e1318
10:13152325 OPTN C>A	10	13152325	13152325	C	A	OPTN	c.218C>A	NM_021980.4	NP_068815.2:p.(Ser73Ter)	NC_000010.10:g.13152325C>A	(Likely) pathogenic	1 lab	a140b51c91
5:7895985 MTRR A>G	5	7895985	7895985	A	G	MTRR	c.1676+20A>G	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7895985A>G	(Likely) benign	1 lab	a143faf110
2:44053305 ABCG5 C>CT	2	44053305	44053319	C	CT	ABCG5	c.774+215dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053319dup	(Likely) benign	1 lab	a1464826b0
10:18823053 CACNB2 T>C	10	18823053	18823053	T	C	CACNB2	c.938T>C	NM_000724.4	NP_000715.2:p.(Leu313Ser)	NC_000010.10:g.18823053T>C	VUS	1 lab	a1470b9f89
11:73724508 C2CD3 C>A	11	73724508	73724508	C	A	C2CD3	c.6984G>T	NM_001286577.2	NP_001273506.1:p.(Ser2328=)	NC_000011.9:g.73724508C>A	(Likely) benign	1 lab	a14b0911a9
4:55131129 PDGFRA G>A	4	55131129	55131129	G	A	PDGFRA	c.672G>A	NM_006206.6	NP_006197.1:p.(Val224=)	NC_000004.11:g.55131129G>A	(Likely) benign	1 lab	a15610b6f3
9:26978259 IFT74 A>G	9	26978259	26978259	A	G	IFT74	c.254A>G	NM_001099222.3	NP_001092692.1:p.(Lys85Arg)	NC_000009.11:g.26978259A>G	(Likely) benign	1 lab	a15b8a51d4
11:67250697 AIP G>A	11	67250697	67250697	G	A	AIP	c.68G>A	NM_003977.4	NP_003968.3:p.(Gly23Glu)	NC_000011.9:g.67250697G>A	(Likely) benign	1 lab	a15c7fc224
X:38491337 MISSING A>Alt too long to show for this DUP	X	38491337	38578055	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.38491338_38578055dup	VUS	1 lab	a161c45503
2:179581821 TTN C>A	2	179581821	179581821	C	A	TTN	c.25639+1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179581821C>A	VUS	1 lab	a16254ae28
7:94027507 COL1A2 A>G	7	94027507	94027507	A	G	COL1A2	c.82-187A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94027507A>G	(Likely) benign	1 lab	a1628aec14
10:92672644 ANKRD1 G>A	10	92672644	92672644	G	A	ANKRD1	c.939C>T	NM_014391.3	NP_055206.2:p.(Thr313=)	NC_000010.10:g.92672644G>A	(Likely) benign	1 lab	a1658c476c
2:179425326 TTN-AS1 TTTACAGG>T	2	179425326	179425333	TTTACAGG	T	TTN-AS1	n.2043+18239_2043+18245del	NR_038272.1		NC_000002.11:g.179425327_179425333del	(Likely) benign	1 lab	a168a224bb
16:29427214 MISSING Ref too long to show for this DEL>G	16	29427214	30320003	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.29427216_30320003del	(Likely) pathogenic	1 lab	a16e387421
16:28883880 SH2B1 A>C	16	28883880	28883880	A	C	SH2B1	c.1751A>C	NM_001145795.2	NP_001139267.1:p.(Glu584Ala)	NC_000016.9:g.28883880A>C	VUS	1 lab	a16e547d34
3:10119782 FANCD2 A>G	3	10119782	10119782	A	G	FANCD2	c.2877A>G	NM_033084.6	NP_149075.2:p.(Gln959=)	NC_000003.11:g.10119782A>G	(Likely) benign	1 lab	a172a4aa1c
4:4298710 MISSING G>Alt too long to show for this DUP	4	4298710	4360445	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.4298711_4360445dup	VUS	1 lab	a175d0d040
5:88056999 MEF2C TACAC>T	5	88056999	88057006	TACAC	T	MEF2C	c.401_402+2del	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88057003_88057006del	(Likely) pathogenic	1 lab	a176a45b26
16:30991337 SETD1A A>C	16	30991337	30991337	A	C	SETD1A	c.4230A>C	NM_014712.3	NP_055527.1:p.(Pro1410=)	NC_000016.9:g.30991337A>C	(Likely) benign	1 lab	a17760c790
2:25523110 DNMT3A G>A	2	25523110	25523110	G	A	DNMT3A	c.75C>T	NM_022552.5	NP_072046.2:p.(Asp25=)	NC_000002.11:g.25523110G>A	(Likely) benign	1 lab	a179137cee
5:133948331 SAR1B T>TAAAA	5	133948331	133948371	T	TAAAA	SAR1B	c.244+46_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948368_133948371dup	(Likely) benign	1 lab	a17f35c178
7:100424587 EPHB4 G>C	7	100424587	100424587	G	C	EPHB4	c.52+14C>G	NM_004444.5	NP_004435.3:p.?	NC_000007.13:g.100424587G>C	(Likely) benign	1 lab	a1806687ca
4:122766792 BBS7 G>T	4	122766792	122766792	G	T	BBS7	c.1097C>A	NM_176824.3	NP_789794.1:p.(Ser366Tyr)	NC_000004.11:g.122766792G>T	(Likely) benign	1 lab	a18309a7a0
18:47112871 LIPG T>C	18	47112871	47112871	T	C	LIPG	c.1377-245T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47112871T>C	(Likely) benign	1 lab	a183d68762
11:118501788 PHLDB1 C>T	11	118501788	118501788	C	T	PHLDB1	c.1828-136C>T	NM_015157.4	NP_055972.1:p.?	NC_000011.9:g.118501788C>T	(Likely) benign	1 lab	a184c74a37
1:220227507 MISSING Ref too long to show for this DEL>A	1	220227507	220246038	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.220227508_220246038del	VUS	1 lab	a1898eb9af
17:48264037 COL1A1 G>A	17	48264037	48264037	G	A	COL1A1	c.3778C>T	NM_000088.4	NP_000079.2:p.(Arg1260Cys)	NC_000017.10:g.48264037G>A	VUS	1 lab	a18a6a35a5
6:107957243 MISSING A>Alt too long to show for this DUP	6	107957243	108019319	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.107957244_108019319dup	VUS	1 lab	a18a88c42d
19:33167497 RGS9BP C>T	19	33167497	33167497	C	T	RGS9BP	c.328C>T	NM_207391.3	NP_997274.2:p.(Arg110Trp)	NC_000019.9:g.33167497C>T	VUS	1 lab	a191bdcc2e
1:20417136 PLA2G5 G>A	1	20417136	20417136	G	A	PLA2G5	c.368G>A	NM_000929.3	NP_000920.1:p.(Arg123Gln)	NC_000001.10:g.20417136G>A	VUS	1 lab	a1940b845e
8:144297311 GPIHBP1 G>A	8	144297311	144297311	G	A	GPIHBP1	c.473G>A	NM_178172.6	NP_835466.2:p.(Arg158Gln)	NC_000008.10:g.144297311G>A	VUS	1 lab	a195904aed
19:2129160 AP3D1 G>A	19	2129160	2129160	G	A	AP3D1	c.735C>T	NM_001261826.3	NP_001248755.1:p.(Phe245=)	NC_000019.9:g.2129160G>A	(Likely) benign	1 lab	a19a34435b
X:110907417 MISSING T>Alt too long to show for this DUP	X	110907417	111095701	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.110907419_111095701dup	(Likely) pathogenic	1 lab	a19b546584
17:48265343 COL1A1 C>A	17	48265343	48265343	C	A	COL1A1	c.3263G>T	NM_000088.4	NP_000079.2:p.(Gly1088Val)	NC_000017.10:g.48265343C>A	(Likely) pathogenic	1 lab	a1a0091d9d
9:111644396 ELP1 G>A	9	111644396	111644396	G	A	ELP1	c.3285+9C>T	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111644396G>A	(Likely) benign	1 lab	a1a1585b8f
19:2405143 TMPRSS9 Ref too long to show for this DEL>G	19	2405143	2416933	Ref too long to show for this DEL	G	TMPRSS9	c.671-226_2017+126del	NM_001395513.1	NP_001382442.1:p.?	NC_000019.9:g.2405146_2416933del	VUS	1 lab	a1a15d7f17
18:47109946 LIPG A>T	18	47109946	47109946	A	T	LIPG	c.1178A>T	NM_006033.4	NP_006024.1:p.(Asn393Ile)	NC_000018.9:g.47109946A>T	VUS	1 lab	a1a7f055fa
8:144297126 GPIHBP1 C>G	8	144297126	144297126	C	G	GPIHBP1	c.296-8C>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297126C>G	(Likely) benign	1 lab	a1b126a8d1
19:11230758 LDLR G>T	19	11230758	11230758	G	T	LDLR	c.1846-10G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230758G>T	(Likely) benign	1 lab	a1b1a27868
1:94494981 ABCA4 G>A	1	94494981	94494981	G	A	ABCA4	c.4539+20C>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94494981G>A	(Likely) benign	1 lab	a1be4e5d98
2:48027810 MSH6 A>G	2	48027810	48027810	A	G	MSH6	c.2688A>G	NM_000179.3	NP_000170.1:p.(Lys896=)	NC_000002.11:g.48027810A>G	(Likely) benign	1 lab	a1cd64e139
9:107550757 ABCA1 C>A	9	107550757	107550757	C	A	ABCA1	c.6019G>T	NM_005502.4	NP_005493.2:p.(Val2007Leu)	NC_000009.11:g.107550757C>A	VUS	1 lab	a1ce0a0dd0
1:74797214 FPGT-TNNI3K G>A	1	74797214	74797214	G	A	FPGT-TNNI3K	c.828G>A	NM_001112808.3	NP_001106279.3:p.(Ala276=)	NC_000001.10:g.74797214G>A	(Likely) benign	1 lab	a1d2f89b24
6:16145315 MYLIP G>A	6	16145315	16145315	G	A	MYLIP	c.1015G>A	NM_013262.4	NP_037394.2:p.(Val339Ile)	NC_000006.11:g.16145315G>A	(Likely) benign	1 lab	a1d8818348
8:144295383 GPIHBP1 T>A	8	144295383	144295383	T	A	GPIHBP1	c.52+189T>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295383T>A	(Likely) benign	1 lab	a1d8e5826a
2:179478995 TTN C>T	2	179478995	179478995	C	T	TTN	c.49129G>A	NM_001267550.2	NP_001254479.2:p.(Asp16377Asn)	NC_000002.11:g.179478995C>T	VUS	1 lab	a1dce3f8d0
5:38503940 LIFR A>G	5	38503940	38503940	A	G	LIFR	c.1437+138T>C	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38503940A>G	(Likely) benign	1 lab	a1dd2daa3c
5:90085522 ADGRV1 C>T	5	90085522	90085522	C	T	ADGRV1	c.13897C>T	NM_032119.4	NP_115495.3:p.(Gln4633Ter)	NC_000005.9:g.90085522C>T	(Likely) pathogenic	1 lab	a1e005d279
9:113252011 SVEP1 T>C	9	113252011	113252011	T	C	SVEP1	c.1849A>G	NM_153366.4	NP_699197.3:p.(Ile617Val)	NC_000009.11:g.113252011T>C	(Likely) benign	1 lab	a1e47eeba0
8:61735321 CHD7 T>G	8	61735321	61735321	T	G	CHD7	c.3201+16T>G	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61735321T>G	(Likely) benign	1 lab	a2943a27c9
15:44877822 SPG11 G>C	15	44877822	44877822	G	C	SPG11	c.5121+12C>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44877822G>C	(Likely) benign	1 lab	a1f78ab7a2
16:50335074 ADCY7 C>A	16	50335074	50335074	C	A	ADCY7	c.1317C>A	NM_001114.5	NP_001105.1:p.(Asp439Glu)	NC_000016.9:g.50335074C>A	(Likely) benign	1 lab	a1fb4d1d2d
X:150449898 MISSING T>Alt too long to show for this DUP	X	150449898	150642623	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150449902_150642623dup	(Likely) pathogenic	1 lab	a2025ac2d7
3:123376264 MYLK G>A	3	123376264	123376264	G	A	MYLK	c.3997C>T	NM_053025.4	NP_444253.3:p.(Pro1333Ser)	NC_000003.11:g.123376264G>A	VUS	1 lab	a202cb815f
8:6360653 ANGPT2 G>T	8	6360653	6360653	G	T	ANGPT2	c.1460C>A	NM_001147.3	NP_001138.1:p.(Thr487Lys)	NC_000008.10:g.6360653G>T	VUS	1 lab	a2063173f9
2:179544708 TTN A>T	2	179544708	179544708	A	T	TTN	c.33493T>A	NM_001267550.2	NP_001254479.2:p.(Tyr11165Asn)	NC_000002.11:g.179544708A>T	VUS	1 lab	a2064d9b25
7:151273558 PRKAG2 A>G	7	151273558	151273558	A	G	PRKAG2	c.865-20T>C	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151273558A>G	(Likely) benign	1 lab	a2081a4ca8
X:115575913 SLC6A14 Ref too long to show for this DEL>A	X	115575913	115576427	Ref too long to show for this DEL	A	SLC6A14	c.657-172_789+209del	NM_007231.5	NP_009162.1:p.?	NC_000023.10:g.115575914_115576427del	VUS	1 lab	a20c5df22c
19:7509115 ARHGEF18 C>T	19	7509115	7509115	C	T	ARHGEF18	c.660C>T	NM_001130955.2	NP_001124427.2:p.(His220=)	NC_000019.9:g.7509115C>T	(Likely) benign	1 lab	a2148a79cc
18:25585943 CDH2 T>C	18	25585943	25585943	T	C	CDH2	c.717A>G	NM_001792.5	NP_001783.2:p.(Ala239=)	NC_000018.9:g.25585943T>C	(Likely) benign	1 lab	a217a3c65d
2:21229815 APOB C>T	2	21229815	21229815	C	T	APOB	c.9925G>A	NM_000384.3	NP_000375.3:p.(Val3309Ile)	NC_000002.11:g.21229815C>T	(Likely) benign	1 lab	a23d90290a
17:15162436 PMP22 G>GT	17	15162436	15162437	G	GT	PMP22	c.152dup	NM_001281456.2	NP_001268385.1:p.(His51GlnfsTer172)	NC_000017.10:g.15162437dup	(Likely) pathogenic	1 lab	a218557eea
16:89348466 ANKRD11 T>C	16	89348466	89348466	T	C	ANKRD11	c.4484A>G	NM_001256182.2	NP_001243111.1:p.(His1495Arg)	NC_000016.9:g.89348466T>C	VUS	1 lab	a21a197e9e
16:57003910 CETP G>A	16	57003910	57003910	G	A	CETP	c.524G>A	NM_000078.3	NP_000069.2:p.(Arg175Gln)	NC_000016.9:g.57003910G>A	VUS	1 lab	a21b85dca3
2:179543162 TTN C>G	2	179543162	179543162	C	G	TTN	c.33889G>C	NM_001267550.2	NP_001254479.2:p.(Val11297Leu)	NC_000002.11:g.179543162C>G	VUS	1 lab	a21d2ac5db
12:56495695 ERBB3 T>C	12	56495695	56495695	T	C	ERBB3	c.3885T>C	NM_001982.4	NP_001973.2:p.(Phe1295=)	NC_000012.11:g.56495695T>C	(Likely) benign	1 lab	a21ebc79cb
11:47358054 MYBPC3 A>C	11	47358054	47358054	A	C	MYBPC3	c.2603-492T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358054A>C	(Likely) benign	1 lab	a2236f0bee
1:216173866 USH2A C>A	1	216173866	216173866	C	A	USH2A	c.6364G>T	NM_206933.4	NP_996816.3:p.(Ala2122Ser)	NC_000001.10:g.216173866C>A	VUS	1 lab	a23039d843
1:10363238 KIF1B C>T	1	10363238	10363238	C	T	KIF1B	c.1995C>T	NM_183416.4	NP_904325.2:p.(Ser665=)	NC_000001.10:g.10363238C>T	(Likely) benign	1 lab	a2316212f2
18:28648030 DSC2 TTATC>T	18	28648030	28648034	TTATC	T	DSC2	c.2653_2656del	NM_024422.6	NP_077740.1:p.(Asp885IlefsTer9)	NC_000018.9:g.28648031_28648034del	(Likely) benign	1 lab	a235bb5432
8:59412647 CYP7A1 G>A	8	59412647	59412647	G	A	CYP7A1	c.11C>T	NM_000780.4	NP_000771.2:p.(Thr4Ile)	NC_000008.10:g.59412647G>A	(Likely) benign	1 lab	a23c6feb22
21:37429778 SETD4 T>TA	21	37429778	37429792	T	TA	SETD4	c.-93-4dup	NM_001286752.2	NP_001273681.1:p.?	NC_000021.8:g.37429792dup	(Likely) benign	1 lab	a23cc20329
18:34298059 FHOD3 A>G	18	34298059	34298059	A	G	FHOD3	c.2273A>G	NM_025135.5	NP_079411.2:p.(Asn758Ser)	NC_000018.9:g.34298059A>G	VUS	1 lab	a23d8c2434
21:47783647 PCNT C>T	21	47783647	47783647	C	T	PCNT	c.2407C>T	NM_006031.6	NP_006022.3:p.(Gln803Ter)	NC_000021.8:g.47783647C>T	(Likely) pathogenic	1 lab	a2443e7363
17:48058859 MISSING C>Alt too long to show for this DUP	17	48058859	48148579	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.48058860_48148579dup	VUS	1 lab	a245fe08fd
15:35087021 ACTC1 T>C	15	35087021	35087021	T	C	ACTC1	c.-12A>G	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35087021T>C	VUS	1 lab	a2464ae865
1:3301749 PRDM16 G>A	1	3301749	3301749	G	A	PRDM16	c.472G>A	NM_022114.4	NP_071397.3:p.(Val158Met)	NC_000001.10:g.3301749G>A	VUS	1 lab	a24c1d505e
15:40226495 EIF2AK4 T>C	15	40226495	40226495	T	C	EIF2AK4	c.99T>C	NM_001013703.4	NP_001013725.2:p.(Ile33=)	NC_000015.9:g.40226495T>C	(Likely) benign	1 lab	a253e57e3f
19:47259173 FKRP G>A	19	47259173	47259173	G	A	FKRP	c.466G>A	NM_001039885.3	NP_001034974.1:p.(Val156Met)	NC_000019.9:g.47259173G>A	VUS	1 lab	a25655ae0f
2:179449686 TTN C>A	2	179449686	179449686	C	A	TTN	c.56978G>T	NM_133378.4	NP_596869.4:p.(Gly18993Val)	NC_000002.11:g.179449686C>A	VUS	1 lab	a2580fa604
12:118105479 KSR2 A>C	12	118105479	118105479	A	C	KSR2	c.987-16T>G	NM_173598.6	NP_775869.4:p.?	NC_000012.11:g.118105479A>C	(Likely) benign	1 lab	a258e61f7c
16:955456 LMF1 G>A	16	955456	955456	G	A	LMF1	c.264+5475C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.955456G>A	(Likely) benign	1 lab	a26148ac77
1:879203 SAMD11 A>C	1	879203	879203	A	C	SAMD11	c.1800+15A>C	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.879203A>C	(Likely) benign	1 lab	a26245c7ef
2:40564498 MISSING Ref too long to show for this DEL>C	2	40564498	40805927	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.40564500_40805927del	VUS	1 lab	a263454942
16:2094602 NTHL1 C>T	16	2094602	2094602	C	T	NTHL1	c.525+29G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2094602C>T	(Likely) benign	1 lab	a2645ede55
5:77349634 AP3B1 Ref too long to show for this DEL>C	5	77349634	77369111	Ref too long to show for this DEL	C	AP3B1	c.2577+16108_2578-14537del	NM_003664.5	NP_003655.3:p.?	NC_000005.9:g.77349637_77369111del	VUS	1 lab	a268d21af1
7:128481575 FLNC T>C	7	128481575	128481575	T	C	FLNC	c.2075T>C	NM_001458.5	NP_001449.3:p.(Ile692Thr)	NC_000007.13:g.128481575T>C	VUS	1 lab	a26b7ad520
11:47372541 MYBPC3 G>A	11	47372541	47372541	G	A	MYBPC3	c.292+249C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372541G>A	(Likely) benign	1 lab	a26be4add0
22:32293571 DEPDC5 G>C	22	32293571	32293571	G	C	DEPDC5	c.4307G>C	NM_001242896.3	NP_001229825.1:p.(Arg1436Pro)	NC_000022.10:g.32293571G>C	VUS	1 lab	a2731f6627
3:193170104 MISSING Ref too long to show for this DEL>T	3	193170104	193334593	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.193170107_193334593del	(Likely) pathogenic	1 lab	a27750f786
9:27197557 TEK G>A	9	27197557	27197557	G	A	TEK	c.1869G>A	NM_000459.5	NP_000450.3:p.(Gly623=)	NC_000009.11:g.27197557G>A	(Likely) benign	1 lab	a27795dbe4
16:88789620 PIEZO1 G>A	16	88789620	88789620	G	A	PIEZO1	c.4438+14C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88789620G>A	(Likely) benign	1 lab	a28c42b02a
12:125284798 SCARB1 G>A	12	125284798	125284798	G	A	SCARB1	c.1010-10C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125284798G>A	(Likely) benign	1 lab	a28d24bddb
2:220147646 DNAJB2 A>G	2	220147646	220147646	A	G	DNAJB2	c.440A>G	NM_006736.6	NP_006727.2:p.(His147Arg)	NC_000002.11:g.220147646A>G	VUS	1 lab	a292583ea3
1:236894571 ACTN2 C>T	1	236894571	236894571	C	T	ACTN2	c.654C>T	NM_001103.4	NP_001094.1:p.(Ile218=)	NC_000001.10:g.236894571C>T	(Likely) benign	1 lab	a2949f08ad
2:148707596 MISSING G>Alt too long to show for this DUP	2	148707596	148888412	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.148707597_148888412dup	VUS	1 lab	a2a113dddd
15:48756145 FBN1 AC>A	15	48756145	48756146	AC	A	FBN1	c.5015del	NM_000138.5	NP_000129.3:p.(Cys1672LeufsTer10)	NC_000015.9:g.48756146del	(Likely) pathogenic	1 lab	a2a9830c9e
6:100055044 PRDM13 C>T	6	100055044	100055044	C	T	PRDM13	c.134C>T	NM_021620.4	NP_067633.2:p.(Pro45Leu)	NC_000006.11:g.100055044C>T	(Likely) benign	1 lab	a2ac532398
1:3347478 PRDM16 C>T	1	3347478	3347478	C	T	PRDM16	c.3327C>T	NM_022114.4	NP_071397.3:p.(Gly1109=)	NC_000001.10:g.3347478C>T	(Likely) benign	1 lab	a2aeb36cd5
11:68696710 IGHMBP2 A>G	11	68696710	68696710	A	G	IGHMBP2	c.1120A>G	NM_002180.3	NP_002171.2:p.(Ile374Val)	NC_000011.9:g.68696710A>G	VUS	1 lab	a2b48463fc
1:238016608 RYR2 A>Alt too long to show for this DUP	1	238016608	238092566	A	Alt too long to show for this DUP	RYR2				NC_000001.10:g.238016610_238092566dup	VUS	1 lab	a2b5079c9d
2:179399110 TTN C>A	2	179399110	179399110	C	A	TTN	c.102232G>T	NM_001267550.2	NP_001254479.2:p.(Glu34078Ter)	NC_000002.11:g.179399110C>A	(Likely) pathogenic	1 lab	a2b684518a
18:47093942 LIPG A>C	18	47093942	47093942	A	C	LIPG	c.410A>C	NM_006033.4	NP_006024.1:p.(Asn137Thr)	NC_000018.9:g.47093942A>C	VUS	1 lab	a2c3691d05
7:91623968 AKAP9 G>A	7	91623968	91623968	G	A	AKAP9	c.610G>A	NM_005751.5	NP_005742.4:p.(Asp204Asn)	NC_000007.13:g.91623968G>A	(Likely) benign	1 lab	a2c70f4172
2:220286094 DES G>A	2	220286094	220286094	G	A	DES	c.1056G>A	NM_001927.4	NP_001918.3:p.(Leu352=)	NC_000002.11:g.220286094G>A	(Likely) benign	1 lab	a2c82ca41a
9:107588328 ABCA1 G>A	9	107588328	107588328	G	A	ABCA1	c.2338-160C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588328G>A	(Likely) benign	1 lab	a2c8e5a3ed
3:52441314 BAP1 G>A	3	52441314	52441314	G	A	BAP1	c.456C>T	NM_004656.4	NP_004647.1:p.(Leu152=)	NC_000003.11:g.52441314G>A	(Likely) benign	1 lab	a2cd289165
1:154143887 TPM3 A>G	1	154143887	154143887	A	G	TPM3	c.642+2T>C	NM_152263.4	NP_689476.2:p.?	NC_000001.10:g.154143887A>G	VUS	1 lab	a2cfe1e1b3
8:72215297 EYA1 Ref too long to show for this DEL>C	8	72215297	72216588	Ref too long to show for this DEL	C	EYA1	c.557-4633_557-3343del	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72215298_72216588del	VUS	1 lab	a2d07fd0a6
1:36847444 MISSING Ref too long to show for this DEL>A	1	36847444	36904180	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.36847446_36904180del	VUS	1 lab	a2d416a8b6
4:140105169 MISSING Ref too long to show for this DEL>G	4	140105169	140793326	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.140105170_140793326del	(Likely) pathogenic	1 lab	a2d6c7aea6
1:120612040 NOTCH2 T>TCCTCCGCCG	1	120612040	120612043	T	TCCTCCGCCG	NOTCH2	c.-21_-20insCGGCGGAGG	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120612042_120612043insTCCGCCGCC	(Likely) benign	1 lab	a2d90c5c9e
4:106307787 PPA2 G>A	4	106307787	106307787	G	A	PPA2	c.876C>T	NM_176869.3	NP_789845.1:p.(Asn292=)	NC_000004.11:g.106307787G>A	(Likely) benign	1 lab	a2d9afc41b
16:89351578 ANKRD11 G>A	16	89351578	89351578	G	A	ANKRD11	c.1372C>T	NM_001256182.2	NP_001243111.1:p.(Arg458Ter)	NC_000016.9:g.89351578G>A	(Likely) pathogenic	1 lab	a2ddd87ebb
9:139091730 LHX3 C>A	9	139091730	139091730	C	A	LHX3	c.267-4G>T	NM_014564.5	NP_055379.1:p.?	NC_000009.11:g.139091730C>A	(Likely) benign	1 lab	a2def7b418
3:32148194 GPD1L C>G	3	32148194	32148194	C	G	GPD1L	c.-10C>G	NM_015141.4	NP_055956.1:p.?	NC_000003.11:g.32148194C>G	(Likely) benign	1 lab	a2df4c9206
19:1496607 REEP6 C>T	19	1496607	1496607	C	T	REEP6	c.517+155C>T	NM_138393.4	NP_612402.1:p.?	NC_000019.9:g.1496607C>T	VUS	1 lab	a2e19f507c
19:8211005 FBN3 G>A	19	8211005	8211005	G	A	FBN3	c.349+6C>T	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8211005G>A	(Likely) benign	1 lab	a2e369ad2d
13:32302539 MISSING Ref too long to show for this DEL>T	13	32302539	32317249	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.32302540_32317249del	VUS	1 lab	a2e8c6d89c
16:943000 LMF1 C>T	16	943000	943000	C	T	LMF1	c.330+7G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943000C>T	(Likely) benign	1 lab	a2f35ca5de
1:216390902 USH2A A>C	1	216390902	216390902	A	C	USH2A	c.2994-10T>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216390902A>C	VUS	1 lab	a2f5e137e6
16:918789 LMF1 C>G	16	918789	918789	C	G	LMF1	c.1130+155G>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918789C>G	(Likely) benign	1 lab	a300c64a1c
1:89832097 MISSING A>Alt too long to show for this DUP	1	89832097	90060386	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.89832098_90060386dup	VUS	1 lab	a30520c85a
16:29535441 MISSING Ref too long to show for this DEL>C	16	29535441	30265946	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.29535448_30265946del	(Likely) pathogenic	1 lab	a3056928ae
11:65321723 LTBP3 A>C	11	65321723	65321723	A	C	LTBP3	c.460T>G	NM_001130144.3	NP_001123616.1:p.(Ser154Ala)	NC_000011.9:g.65321723A>C	VUS	1 lab	a305f83dc8
16:21761403 MISSING A>Alt too long to show for this DUP	16	21761403	22431358	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.21761406_22431358dup	VUS	1 lab	a3120a7567
13:32928980 BRCA2 AT>A	13	32928980	32928984	AT	A	BRCA2	c.7008-14del	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928984del	(Likely) benign	1 lab	a3128fad0f
8:100454673 VPS13B G>A	8	100454673	100454673	G	A	VPS13B	c.3255G>A	NM_017890.5	NP_060360.3:p.(Leu1085=)	NC_000008.10:g.100454673G>A	(Likely) benign	1 lab	a3277800c4
13:32929388 BRCA2 A>G	13	32929388	32929388	A	G	BRCA2	c.7398A>G	NM_000059.4	NP_000050.3:p.(Val2466=)	NC_000013.10:g.32929388A>G	(Likely) benign	1 lab	a3284768ad
4:114278753 ANK2 A>G	4	114278753	114278753	A	G	ANK2	c.8979A>G	NM_001148.6	NP_001139.3:p.(Ile2993Met)	NC_000004.11:g.114278753A>G	(Likely) benign	1 lab	a3289fc8a0
8:100829914 VPS13B G>A	8	100829914	100829914	G	A	VPS13B	c.8319G>A	NM_017890.5	NP_060360.3:p.(Ser2773=)	NC_000008.10:g.100829914G>A	(Likely) benign	1 lab	a32f13998c
4:166403417 CPE C>A	4	166403417	166403417	C	A	CPE	c.696C>A	NM_001873.4	NP_001864.1:p.(Val232=)	NC_000004.11:g.166403417C>A	(Likely) benign	1 lab	a331add71b
2:21234696 APOB T>C	2	21234696	21234696	T	C	APOB	c.5044A>G	NM_000384.3	NP_000375.3:p.(Met1682Val)	NC_000002.11:g.21234696T>C	(Likely) benign	1 lab	a332233705
19:11221556 LDLR T>G	19	11221556	11221556	T	G	LDLR	c.1060+109T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221556T>G	VUS	1 lab	a335321629
19:47259886 FKRP A>G	19	47259886	47259886	A	G	FKRP	c.1179A>G	NM_001039885.3	NP_001034974.1:p.(Val393=)	NC_000019.9:g.47259886A>G	(Likely) benign	1 lab	a33a3c9c8a
2:179402443 TTN TC>T	2	179402443	179402445	TC	T	TTN	c.99490del	NM_001267550.2	NP_001254479.2:p.(Glu33164AsnfsTer11)	NC_000002.11:g.179402445del	(Likely) pathogenic	1 lab	a340bc02e2
21:36164600 RUNX1 C>G	21	36164600	36164600	C	G	RUNX1	c.1275G>C	NM_001754.5	NP_001745.2:p.(Pro425=)	NC_000021.8:g.36164600C>G	(Likely) benign	1 lab	a343ed434d
2:179435393 TTN C>G	2	179435393	179435393	C	G	TTN	c.67762G>C	NM_133378.4	NP_596869.4:p.(Ala22588Pro)	NC_000002.11:g.179435393C>G	VUS	1 lab	a344f4f906
2:179593037 TTN G>A	2	179593037	179593037	G	A	TTN	c.19514C>T	NM_001267550.2	NP_001254479.2:p.(Ser6505Phe)	NC_000002.11:g.179593037G>A	VUS	1 lab	a34a72eac2
5:170834718 NPM1 C>T	5	170834718	170834718	C	T	NPM1	c.786C>T	NM_002520.7	NP_002511.1:p.(Pro262=)	NC_000005.9:g.170834718C>T	(Likely) benign	1 lab	a37f38d997
18:10787199 PIEZO2 GAA>G	18	10787199	10787210	GAA	G	PIEZO2	c.2170-19_2170-18del	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10787209_10787210del	(Likely) benign	1 lab	a350c8cffd
15:45393430 DUOX2 G>A	15	45393430	45393430	G	A	DUOX2	c.2894C>T	NM_001363711.2	NP_001350640.1:p.(Ser965Leu)	NC_000015.9:g.45393430G>A	VUS	1 lab	a35332f1f7
8:176450 MISSING Ref too long to show for this DEL>G	8	176450	5567759	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.176452_5567759del	(Likely) pathogenic	1 lab	a35fab0fa5
X:129264071 AIFM1 C>T	X	129264071	129264071	C	T	AIFM1	c.1644G>A	NM_004208.4	NP_004199.1:p.(Pro548=)	NC_000023.10:g.129264071C>T	(Likely) benign	1 lab	a361474ea9
6:112508709 LAMA4 A>T	6	112508709	112508709	A	T	LAMA4	c.909T>A	NM_001105206.3	NP_001098676.2:p.(Ser303=)	NC_000006.11:g.112508709A>T	(Likely) benign	1 lab	a363afe365
3:38768117 SCN10A C>G	3	38768117	38768117	C	G	SCN10A	c.3067G>C	NM_006514.4	NP_006505.4:p.(Glu1023Gln)	NC_000003.11:g.38768117C>G	VUS	1 lab	a363f5e3fc
3:128516819 RAB7A G>A	3	128516819	128516819	G	A	RAB7A	c.87G>A	NM_004637.6	NP_004628.4:p.(Val29=)	NC_000003.11:g.128516819G>A	(Likely) benign	1 lab	a3672412ac
14:102442098 DYNC1H1 C>T	14	102442098	102442098	C	T	DYNC1H1	c.306C>T	NM_001376.5	NP_001367.2:p.(Asn102=)	NC_000014.8:g.102442098C>T	(Likely) benign	1 lab	a36f2cc9b1
18:77474947 CTDP1 C>T	18	77474947	77474947	C	T	CTDP1	c.1487C>T	NM_048368.4	NP_430255.2:p.(Ala496Val)	NC_000018.9:g.77474947C>T	VUS	1 lab	a371857380
2:219647146 CYP27A1 C>A	2	219647146	219647146	C	A	CYP27A1	c.241C>A	NM_000784.4	NP_000775.1:p.(Leu81Met)	NC_000002.11:g.219647146C>A	VUS	1 lab	a3749efc56
4:619777 PDE6B A>G	4	619777	619777	A	G	PDE6B	c.362A>G	NM_000283.4	NP_000274.3:p.(Asp121Gly)	NC_000004.11:g.619777A>G	VUS	1 lab	a375c7c666
2:21239898 APOB T>C	2	21239898	21239898	T	C	APOB	c.3122-377A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239898T>C	(Likely) benign	1 lab	a37ae45acc
7:81667468 CACNA2D1 C>T	7	81667468	81667468	C	T	CACNA2D1	c.963G>A	NM_000722.4	NP_000713.2:p.(Ala321=)	NC_000007.13:g.81667468C>T	(Likely) benign	1 lab	a37bda1daf
15:85400818 ALPK3 G>A	15	85400818	85400818	G	A	ALPK3	c.2849G>A	NM_020778.5	NP_065829.4:p.(Arg950Gln)	NC_000015.9:g.85400818G>A	VUS	1 lab	a37c91c74b
1:3328360 PRDM16 G>A	1	3328360	3328360	G	A	PRDM16	c.1599G>A	NM_022114.4	NP_071397.3:p.(Ser533=)	NC_000001.10:g.3328360G>A	(Likely) benign	1 lab	a40c86f8a6
X:31515016 DMD A>G	X	31515016	31515016	A	G	DMD	c.8436T>C	NM_004006.3	NP_003997.2:p.(Leu2812=)	NC_000023.10:g.31515016A>G	(Likely) benign	1 lab	a37f59c2ff
16:23847673 PRKCB AGC>A	16	23847673	23847685	AGC	A	PRKCB	c.173+15_173+16del	NM_002738.7	NP_002729.2:p.?	NC_000016.9:g.23847684_23847685del	(Likely) benign	1 lab	a3873d2c40
4:100521710 MTTP CT>C	4	100521710	100521717	CT	C	MTTP	c.1068-5del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521717del	(Likely) benign	1 lab	a38b5fe788
2:220283480 DES A>T	2	220283480	220283480	A	T	DES	c.296A>T	NM_001927.4	NP_001918.3:p.(Gln99Leu)	NC_000002.11:g.220283480A>T	VUS	1 lab	a38f2fbd8c
1:109697099 ELAPOR1 Ref too long to show for this DEL>C	1	109697099	109745782	Ref too long to show for this DEL	C	ELAPOR1	c.154-7415_*148del	NM_020775.5	NP_065826.3:p.?	NC_000001.10:g.109697101_109745782del	VUS	1 lab	a391b8bc4f
17:39976721 FKBP10 C>CG	17	39976721	39976730	C	CG	FKBP10	c.1256+17dup	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39976730dup	(Likely) benign	1 lab	a39226b952
14:23744800 HOMEZ ACATCAT>A	14	23744800	23744825	ACATCAT	A	HOMEZ	c.1631_1636del	NM_020834.3	NP_065885.2:p.(Asp544_Asp545del)	NC_000014.8:g.23744820_23744825del	(Likely) benign	1 lab	a394609d5e
7:155599268 SHH A>T	7	155599268	155599268	A	T	SHH	c.301-17T>A	NM_000193.4	NP_000184.1:p.?	NC_000007.13:g.155599268A>T	(Likely) benign	1 lab	a3949d2ab3
7:100679429 MUC17 T>A	7	100679429	100679429	T	A	MUC17	c.4732T>A	NM_001040105.2	NP_001035194.1:p.(Leu1578Met)	NC_000007.13:g.100679429T>A	(Likely) benign	1 lab	a39510257a
9:107568519 ABCA1 C>T	9	107568519	107568519	C	T	ABCA1	c.4464+3G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568519C>T	VUS	1 lab	a395b14d81
8:55539275 RP1 G>T	8	55539275	55539275	G	T	RP1	c.2833G>T	NM_006269.2	NP_006260.1:p.(Val945Leu)	NC_000008.10:g.55539275G>T	(Likely) benign	1 lab	a395ebe4a8
12:117968763 KSR2 C>T	12	117968763	117968763	C	T	KSR2	c.1785G>A	NM_173598.6	NP_775869.4:p.(Pro595=)	NC_000012.11:g.117968763C>T	(Likely) benign	1 lab	a397993508
6:17102574 STMND1 TAAAC>T	6	17102574	17102603	TAAAC	T	STMND1	c.81+31_81+34del	NM_001190766.2	NP_001177695.1:p.?	NC_000006.11:g.17102600_17102603del	(Likely) benign	1 lab	a399b8df01
1:245100695 MISSING A>Alt too long to show for this DUP	1	245100695	245685625	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.245100696_245685625dup	VUS	1 lab	a39fb6613f
3:154890356 MME C>T	3	154890356	154890356	C	T	MME	c.2108C>T	NM_007289.4	NP_009220.2:p.(Ala703Val)	NC_000003.11:g.154890356C>T	VUS	1 lab	a3a22710d6
20:21142998 KIZ G>A	20	21142998	21142998	G	A	KIZ	c.892G>A	NM_018474.6	NP_060944.3:p.(Gly298Arg)	NC_000020.10:g.21142998G>A	(Likely) benign	1 lab	a3a5e52326
2:179406274 TTN A>T	2	179406274	179406274	A	T	TTN	c.97530T>A	NM_001267550.2	NP_001254479.2:p.(Asp32510Glu)	NC_000002.11:g.179406274A>T	VUS	1 lab	a3a659e394
2:114004365 PAX8 C>T	2	114004365	114004365	C	T	PAX8	c.157G>A	NM_003466.4	NP_003457.1:p.(Val53Ile)	NC_000002.11:g.114004365C>T	VUS	1 lab	a3adf78a6e
1:94543291 ABCA4 A>T	1	94543291	94543291	A	T	ABCA4	c.1509T>A	NM_000350.3	NP_000341.2:p.(Phe503Leu)	NC_000001.10:g.94543291A>T	VUS	1 lab	a3aece5b30
5:179043132 HNRNPH1 C>T	5	179043132	179043132	C	T	HNRNPH1	c.1295G>A	NM_001257293.2	NP_001244222.1:p.(Gly432Glu)	NC_000005.9:g.179043132C>T	(Likely) benign	1 lab	a3af4ec801
1:6529823 PLEKHG5 G>C	1	6529823	6529823	G	C	PLEKHG5	c.1801-87C>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6529823G>C	(Likely) benign	1 lab	a3bf37aa00
10:13154481 OPTN G>A	10	13154481	13154481	G	A	OPTN	c.398G>A	NM_001008211.1	NP_001008212.1:p.(Arg133Lys)	NC_000010.10:g.13154481G>A	(Likely) benign	1 lab	a3c059d1a4
16:67974269 LCAT G>A	16	67974269	67974269	G	A	LCAT	c.861C>T	NM_000229.2	NP_000220.1:p.(His287=)	NC_000016.9:g.67974269G>A	(Likely) benign	1 lab	a3c2ec2072
10:85973043 CDHR1 A>T	10	85973043	85973043	A	T	CDHR1	c.1979A>T	NM_033100.4	NP_149091.1:p.(Asp660Val)	NC_000010.10:g.85973043A>T	VUS	1 lab	a3c3f27423
8:145007482 PLEC C>T	8	145007482	145007482	C	T	PLEC	c.1712G>A	NM_201380.4	NP_958782.1:p.(Arg571Gln)	NC_000008.10:g.145007482C>T	VUS	1 lab	a3c45376ed
12:30829726 IPO8 G>A	12	30829726	30829726	G	A	IPO8	c.640-205C>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30829726G>A	(Likely) benign	1 lab	a3c4f33f2d
2:21229425 APOB T>A	2	21229425	21229425	T	A	APOB	c.10315A>T	NM_000384.3	NP_000375.3:p.(Asn3439Tyr)	NC_000002.11:g.21229425T>A	VUS	1 lab	a3cbcb2ccd
2:189860358 COL3A1 G>A	2	189860358	189860358	G	A	COL3A1	c.1510-60G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860358G>A	(Likely) benign	1 lab	a3cea2fca2
5:178578184 ADAMTS2 C>A	5	178578184	178578184	C	A	ADAMTS2	c.1629+959G>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178578184C>A	(Likely) benign	1 lab	a3dbb71c04
4:16000126 PROM1 GA>G	4	16000126	16000128	GA	G	PROM1	c.1552-16del	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.16000128del	(Likely) benign	1 lab	a3e17d0ce6
2:44078781 ABCG8 C>T	2	44078781	44078781	C	T	ABCG8	c.381C>T	NM_022437.3	NP_071882.1:p.(Ile127=)	NC_000002.11:g.44078781C>T	(Likely) benign	1 lab	a3e272b443
5:11614317 CTNND2 Ref too long to show for this DEL>A	5	11614317	11624155	Ref too long to show for this DEL	A	CTNND2	c.175-58986_175-49150del	NM_001332.4	NP_001323.1:p.?	NC_000005.9:g.11614319_11624155del	VUS	1 lab	a3ea65fa72
19:49671980 TRPM4 G>A	19	49671980	49671980	G	A	TRPM4	c.783G>A	NM_017636.4	NP_060106.2:p.(Lys261=)	NC_000019.9:g.49671980G>A	(Likely) benign	1 lab	a3ebe3e63f
15:48782177 FBN1 C>T	15	48782177	48782177	C	T	FBN1	c.2953G>A	NM_000138.5	NP_000129.3:p.(Gly985Arg)	NC_000015.9:g.48782177C>T	(Likely) pathogenic	1 lab	a3f9c5136a
14:76549611 IFT43 G>A	14	76549611	76549611	G	A	IFT43	c.501G>A	NM_052873.3	NP_443105.2:p.(Ala167=)	NC_000014.8:g.76549611G>A	(Likely) benign	1 lab	a40103747d
7:128479917 FLNC C>T	7	128479917	128479917	C	T	FLNC	c.1412-160C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128479917C>T	(Likely) benign	1 lab	a40789f307
5:1201879 SLC6A19 G>A	5	1201879	1201879	G	A	SLC6A19	c.114G>A	NM_001003841.3	NP_001003841.1:p.(Lys38=)	NC_000005.9:g.1201879G>A	(Likely) benign	1 lab	a413bdf93c
19:10247973 DNMT1 G>T	19	10247973	10247973	G	T	DNMT1	c.4294-17C>A	NM_001130823.3	NP_001124295.1:p.?	NC_000019.9:g.10247973G>T	(Likely) benign	1 lab	a414b29241
6:129786388 LAMA2 T>C	6	129786388	129786388	T	C	LAMA2	c.7254T>C	NM_000426.4	NP_000417.3:p.(Asn2418=)	NC_000006.11:g.129786388T>C	(Likely) benign	1 lab	a41856fd2e
18:21136367 NPC1 C>T	18	21136367	21136367	C	T	NPC1	c.1166G>A	NM_000271.5	NP_000262.2:p.(Arg389His)	NC_000018.9:g.21136367C>T	(Likely) pathogenic	1 lab	a41b6909ae
19:366411 MISSING Ref too long to show for this DEL>C	19	366411	379918	Ref too long to show for this DEL	C	MISSING				NC_000019.9:g.366413_379918del	VUS	1 lab	a42d3f569a
11:47371941 MYBPC3 A>G	11	47371941	47371941	A	G	MYBPC3	c.406+112T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371941A>G	(Likely) benign	1 lab	a42eb76d0f
12:2788942 CACNA1C G>A	12	2788942	2788942	G	A	CACNA1C	c.5568G>A	NM_199460.4	NP_955630.3:p.(Ala1856=)	NC_000012.11:g.2788942G>A	(Likely) benign	1 lab	a42fc5b2d4
14:102516398 DYNC1H1 C>T	14	102516398	102516398	C	T	DYNC1H1	c.13685-10C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102516398C>T	(Likely) benign	1 lab	a4313088a6
19:40903157 PRX G>A	19	40903157	40903157	G	A	PRX	c.1102C>T	NM_181882.3	NP_870998.2:p.(Arg368Ter)	NC_000019.9:g.40903157G>A	(Likely) pathogenic	1 lab	a4313bafa8
7:150652528 KCNH2 G>A	7	150652528	150652528	G	A	KCNH2	c.64C>T	NM_172057.3	NP_742054.1:p.(Arg22Trp)	NC_000007.13:g.150652528G>A	VUS	1 lab	a434935643
22:32239669 DEPDC5 G>C	22	32239669	32239669	G	C	DEPDC5	c.2672G>C	NM_001242896.3	NP_001229825.1:p.(Ser891Thr)	NC_000022.10:g.32239669G>C	(Likely) benign	1 lab	a43920c9ac
2:179579000 TTN A>T	2	179579000	179579000	A	T	TTN	c.26482+19T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179579000A>T	(Likely) benign	1 lab	a4399b4591
7:112431401 MISSING G>Alt too long to show for this DUP	7	112431401	112482284	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.112431402_112482284dup	(Likely) benign	1 lab	a43a3c464c
11:108124618 ATM A>G	11	108124618	108124618	A	G	ATM	c.1976A>G	NM_000051.4	NP_000042.3:p.(Lys659Arg)	NC_000011.9:g.108124618A>G	(Likely) benign	1 lab	a43add48e9
7:116409692 MET C>T	7	116409692	116409692	C	T	MET	c.2638-7C>T	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116409692C>T	(Likely) benign	1 lab	a43b091f52
2:48027794 MSH6 TCT>C	2	48027794	48027796	TCT	C	MSH6	c.2672_2674delinsC	NM_000179.3	NP_000170.1:p.(Ile891ThrfsTer8)	NC_000002.11:g.48027794_48027796delinsC	(Likely) pathogenic	1 lab	a43bcefdb5
11:119168204 CBL TC>T	11	119168204	119168205	TC	T	CBL	c.2251+14del	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119168205del	(Likely) benign	1 lab	a44d8fcfca
11:68702827 IGHMBP2 G>A	11	68702827	68702827	G	A	IGHMBP2	c.1693G>A	NM_002180.3	NP_002171.2:p.(Asp565Asn)	NC_000011.9:g.68702827G>A	(Likely) pathogenic	1 lab	a451a8e6e7
1:25890298 LDLRAP1 G>A	1	25890298	25890298	G	A	LDLRAP1	c.747+16G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25890298G>A	(Likely) benign	1 lab	a45534a4ef
6:150716673 IYD G>A	6	150716673	150716673	G	A	IYD	c.770G>A	NM_001164694.2	NP_001158166.1:p.(Cys257Tyr)	NC_000006.11:g.150716673G>A	(Likely) benign	1 lab	a4566d4082
3:38639730 SCN5A A>G	3	38639730	38639730	A	G	SCN5A	c.2024-272T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38639730A>G	(Likely) benign	1 lab	a45c8dc5b2
1:150325473 PRPF3 G>T	1	150325473	150325473	G	T	PRPF3	c.*18G>T	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150325473G>T	(Likely) benign	1 lab	a45d42bb09
15:28235735 OCA2 G>A	15	28235735	28235735	G	A	OCA2	c.1103C>T	NM_000275.3	NP_000266.2:p.(Ala368Val)	NC_000015.9:g.28235735G>A	VUS	1 lab	a46095d0c5
2:21238143 APOB G>A	2	21238143	21238143	G	A	APOB	c.3509-11C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238143G>A	(Likely) benign	1 lab	a460ee0536
11:116660652 APOA5 T>C	11	116660652	116660652	T	C	APOA5	c.*192A>G	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660652T>C	VUS	1 lab	a461d6cfca
12:59313248 LRIG3 G>A	12	59313248	59313248	G	A	LRIG3	c.16C>T	NM_001136051.3	NP_001129523.1:p.(Leu6=)	NC_000012.11:g.59313248G>A	(Likely) benign	1 lab	a46660622b
2:179590661 TTN T>C	2	179590661	179590661	T	C	TTN	c.16656A>G	NM_133378.4	NP_596869.4:p.(Lys5552=)	NC_000002.11:g.179590661T>C	(Likely) benign	1 lab	a46c1f1b20
15:48936935 FBN1 A>C	15	48936935	48936935	A	C	FBN1	c.32T>G	NM_000138.5	NP_000129.3:p.(Leu11Arg)	NC_000015.9:g.48936935A>C	(Likely) pathogenic	1 lab	a46ca2a616
9:107682517 ABCA1 T>C	9	107682517	107682517	T	C	ABCA1	c.-93+7699A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107682517T>C	(Likely) benign	1 lab	a46db7f10b
19:11242307 LDLR G>C	19	11242307	11242307	G	C	LDLR	c.*315G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242307G>C	(Likely) benign	1 lab	a471407631
6:32011954 TNXB T>C	6	32011954	32011954	T	C	TNXB	c.11258-48A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011954T>C	(Likely) benign	1 lab	a4811e884d
1:12024370 PLOD1 A>G	1	12024370	12024370	A	G	PLOD1	c.1328+13A>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12024370A>G	(Likely) benign	1 lab	a4818715c1
17:48266336 COL1A1 A>G	17	48266336	48266336	A	G	COL1A1	c.2973T>C	NM_000088.4	NP_000079.2:p.(Ser991=)	NC_000017.10:g.48266336A>G	(Likely) benign	1 lab	a48269d6d2
11:76868020 MYO7A C>A	11	76868020	76868020	C	A	MYO7A	c.705C>A	NM_000260.4	NP_000251.3:p.(Tyr235Ter)	NC_000011.9:g.76868020C>A	(Likely) pathogenic	1 lab	a48d739de0
6:72892859 RIMS1 G>C	6	72892859	72892859	G	C	RIMS1	c.1678+7G>C	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72892859G>C	(Likely) benign	1 lab	a48f677c7b
15:48780089 FBN1 A>G	15	48780089	48780089	A	G	FBN1	c.3337+221T>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780089A>G	(Likely) benign	1 lab	a4928b63af
2:219677701 CYP27A1 C>T	2	219677701	219677701	C	T	CYP27A1	c.899C>T	NM_000784.4	NP_000775.1:p.(Ala300Val)	NC_000002.11:g.219677701C>T	VUS	1 lab	a4940b5051
19:49002070 LMTK3 A>G	19	49002070	49002070	A	G	LMTK3	c.2343T>C	NM_001080434.1	NP_001073903.1:p.(Ala781=)	NC_000019.9:g.49002070A>G	(Likely) benign	1 lab	a498694157
2:179563643 TTN TAA>T	2	179563643	179563658	TAA	T	TTN	c.30683-4_30683-3del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179563657_179563658del	(Likely) benign	1 lab	a4bfbaa81e
1:198655686 PTPRC Ref too long to show for this DEL>G	1	198655686	198692752	Ref too long to show for this DEL	G	PTPRC	c.74-5789_1720+1147del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198655687_198692752del	VUS	1 lab	a49f01bb7a
12:32949251 PKP2 A>T	12	32949251	32949251	A	T	PKP2	c.2300-19T>A	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949251A>T	(Likely) benign	1 lab	a49fa10c55
6:10796264 MAK C>G	6	10796264	10796264	C	G	MAK	c.1110G>C	NM_001242957.3	NP_001229886.1:p.(Thr370=)	NC_000006.11:g.10796264C>G	(Likely) benign	1 lab	a4a041f81c
21:47663470 MCM3AP C>T	21	47663470	47663470	C	T	MCM3AP	c.5205G>A	NM_003906.5	NP_003897.2:p.(Ser1735=)	NC_000021.8:g.47663470C>T	(Likely) benign	1 lab	a4a3c24fe4
16:943039 LMF1 G>A	16	943039	943039	G	A	LMF1	c.298C>T	NM_001352018.2	NP_001338947.1:p.(Arg100Ter)	NC_000016.9:g.943039G>A	(Likely) pathogenic	1 lab	a4a557ab11
17:39911978 JUP G>A	17	39911978	39911978	G	A	JUP	c.*18C>T	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39911978G>A	(Likely) benign	1 lab	a4a5933bc4
2:220492744 SLC4A3 G>A	2	220492744	220492744	G	A	SLC4A3	c.30G>A	NM_201574.3	NP_963868.3:p.(Gly10=)	NC_000002.11:g.220492744G>A	(Likely) benign	1 lab	a4a670074d
15:32685488 GOLGA8K C>A	15	32685488	32685488	C	A	GOLGA8K	c.1561+6G>T	NM_001282493.1	NP_001269422.1:p.?	NC_000015.9:g.32685488C>A	(Likely) benign	1 lab	a4aca1741b
11:108172414 ATM C>T	11	108172414	108172414	C	T	ATM	c.5217C>T	NM_000051.4	NP_000042.3:p.(Asn1739=)	NC_000011.9:g.108172414C>T	(Likely) benign	1 lab	a4b1a6065e
16:15820965 MYH11 G>A	16	15820965	15820965	G	A	MYH11	c.3652-54C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15820965G>A	(Likely) benign	1 lab	a4b1aba4d3
15:72964167 MISSING Ref too long to show for this DEL>T	15	72964167	76071744	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.72964168_76071744del	(Likely) pathogenic	1 lab	a4b7a17c75
1:235779570 MISSING G>Alt too long to show for this DUP	1	235779570	236720798	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.235779572_236720798dup	VUS	1 lab	a6f200ca0f
1:215844590 USH2A T>C	1	215844590	215844590	T	C	USH2A	c.13857A>G	NM_206933.4	NP_996816.3:p.(Ser4619=)	NC_000001.10:g.215844590T>C	(Likely) benign	1 lab	a4c400dd54
12:32764069 FGD4 A>G	12	32764069	32764069	A	G	FGD4	c.160-2A>G	NM_001304484.2	NP_001291413.1:p.?	NC_000012.11:g.32764069A>G	VUS	1 lab	a4c607d095
2:179585359 TTN T>C	2	179585359	179585359	T	C	TTN	c.23130A>G	NM_001267550.2	NP_001254479.2:p.(Pro7710=)	NC_000002.11:g.179585359T>C	(Likely) benign	1 lab	a4c72e3b80
9:140136223 TUBB4B C>T	9	140136223	140136223	C	T	TUBB4B	c.108C>T	NM_006088.6	NP_006079.1:p.(Tyr36=)	NC_000009.11:g.140136223C>T	(Likely) benign	1 lab	a4c844bfc3
15:72023542 THSD4 C>T	15	72023542	72023542	C	T	THSD4	c.1616C>T	NM_024817.2	NP_079093.2:p.(Pro539Leu)	NC_000015.9:g.72023542C>T	(Likely) benign	1 lab	a4cc753b70
X:99662504 PCDH19 C>CG	X	99662504	99662511	C	CG	PCDH19	c.1091dup	NM_001184880.2	NP_001171809.1:p.(Tyr366LeufsTer10)	NC_000023.10:g.99662511dup	(Likely) pathogenic	1 lab	a4cfea2999
11:47353650 MYBPC3 G>A	11	47353650	47353650	G	A	MYBPC3	c.3787C>T	NM_000256.3	NP_000247.2:p.(Arg1263Trp)	NC_000011.9:g.47353650G>A	VUS	1 lab	a4d07902bb
19:40901614 PRX A>C	19	40901614	40901614	A	C	PRX	c.2645T>G	NM_181882.3	NP_870998.2:p.(Val882Gly)	NC_000019.9:g.40901614A>C	(Likely) benign	1 lab	a4d095d910
12:50503319 GPD1 G>C	12	50503319	50503319	G	C	GPD1	c.*17G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503319G>C	VUS	1 lab	a4d17060fb
1:74835137 TNNI3K T>C	1	74835137	74835137	T	C	TNNI3K	c.1535T>C	NM_015978.3	NP_057062.1:p.(Ile512Thr)	NC_000001.10:g.74835137T>C	VUS	1 lab	a4d1e23b6f
2:5833022 SOX11 A>C	2	5833022	5833022	A	C	SOX11	c.169A>C	NM_003108.4	NP_003099.1:p.(Met57Leu)	NC_000002.11:g.5833022A>C	(Likely) benign	1 lab	a4d413c505
3:97503810 ARL6 C>G	3	97503810	97503810	C	G	ARL6	c.266C>G	NM_032146.5	NP_115522.1:p.(Ala89Gly)	NC_000003.11:g.97503810C>G	(Likely) pathogenic	1 lab	a4d4850829
X:2700315 MISSING G>Alt too long to show for this DUP	X	2700315	2808467	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.2700318_2808467dup	VUS	1 lab	a4de92d30a
10:69408490 CTNNA3 T>G	10	69408490	69408490	T	G	CTNNA3	c.-5-1214A>C	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69408490T>G	(Likely) benign	1 lab	a4e19e9cc7
18:47107884 LIPG C>G	18	47107884	47107884	C	G	LIPG	c.893C>G	NM_006033.4	NP_006024.1:p.(Thr298Ser)	NC_000018.9:g.47107884C>G	(Likely) benign	1 lab	a4e4f56c4b
9:130221269 LRSAM1 C>G	9	130221269	130221269	C	G	LRSAM1	c.253-13C>G	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130221269C>G	(Likely) benign	1 lab	a4e545da6d
X:76763878 ATRX G>A	X	76763878	76763878	G	A	ATRX	c.7430C>T	NM_000489.6	NP_000480.3:p.(Pro2477Leu)	NC_000023.10:g.76763878G>A	VUS	1 lab	a4e55a1d31
6:169642308 THBS2 A>T	6	169642308	169642308	A	T	THBS2	c.695-255T>A	NM_003247.5	NP_003238.2:p.?	NC_000006.11:g.169642308A>T	(Likely) benign	1 lab	a4e7077a0a
9:32986048 APTX A>AAC	9	32986048	32986050	A	AAC	APTX	c.484-21_484-20insGT	NM_001195249.2	NP_001182178.1:p.?	NC_000009.11:g.32986049_32986050insCA	(Likely) benign	1 lab	a4e86a77ce
19:45412013 APOE C>A	19	45412013	45412013	C	A	APOE	c.538C>A	NM_001302688.2	NP_001289617.1:p.(Arg180Ser)	NC_000019.9:g.45412013C>A	(Likely) pathogenic	1 lab	a4ea725d86
2:215646256 BARD1 A>C	2	215646256	215646256	A	C	BARD1	c.365-23T>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215646256A>C	(Likely) benign	1 lab	a4ecb3e237
1:2234398 SKI A>G	1	2234398	2234398	A	G	SKI	c.970-19A>G	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2234398A>G	(Likely) benign	1 lab	a4f36b5c3c
15:63356295 TPM1 G>A	15	63356295	63356295	G	A	TPM1	c.697G>A	NM_001365781.2	NP_001352710.1:p.(Ala233Thr)	NC_000015.9:g.63356295G>A	VUS	1 lab	a4f4a7b52b
4:100510796 MTTP C>T	4	100510796	100510796	C	T	MTTP	c.394-4C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100510796C>T	(Likely) benign	1 lab	a4f8cb6c40
16:30423495 MISSING Ref too long to show for this DEL>T	16	30423495	30464034	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.30423497_30464034del	VUS	1 lab	a4fc9d3518
18:47094349 LIPG TGAAGCATGGCTGTGCTGAGGGTGGG>T	18	47094349	47094376	TGAAGCATGGCTGTGCTGAGGGTGGG	T	LIPG	c.459+361_459+385del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47094352_47094376del	(Likely) benign	1 lab	a4fccc345d
3:49167054 LAMB2 C>A	3	49167054	49167054	C	A	LAMB2	c.1501G>T	NM_002292.4	NP_002283.3:p.(Gly501Ter)	NC_000003.11:g.49167054C>A	(Likely) pathogenic	1 lab	a504c4500f
4:4240265 MISSING A>Alt too long to show for this DUP	4	4240265	4723817	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.4240267_4723817dup	VUS	1 lab	a507c683ff
21:15023401 MISSING Ref too long to show for this DEL>A	21	15023401	22010697	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.15023404_22010697del	(Likely) pathogenic	1 lab	a50a27e9e2
6:112493928 LAMA4 T>A	6	112493928	112493928	T	A	LAMA4	c.1436A>T	NM_001105206.3	NP_001098676.2:p.(Asp479Val)	NC_000006.11:g.112493928T>A	VUS	1 lab	a50ba1c798
16:929611 LMF1 G>A	16	929611	929611	G	A	LMF1	c.457C>T	NM_001352018.2	NP_001338947.1:p.(Arg153Trp)	NC_000016.9:g.929611G>A	VUS	1 lab	a511bf6ec2
11:9878204 SBF2 G>A	11	9878204	9878204	G	A	SBF2	c.2164C>T	NM_030962.4	NP_112224.1:p.(Arg722Cys)	NC_000011.9:g.9878204G>A	VUS	1 lab	a516fa1a72
10:69966545 MYPN A>G	10	69966545	69966545	A	G	MYPN	c.3678A>G	NM_032578.4	NP_115967.2:p.(Thr1226=)	NC_000010.10:g.69966545A>G	(Likely) benign	1 lab	a51956513e
16:10032185 GRIN2A G>A	16	10032185	10032185	G	A	GRIN2A	c.638C>T	NM_001134407.3	NP_001127879.1:p.(Ala213Val)	NC_000016.9:g.10032185G>A	VUS	1 lab	a526c36686
12:50498139 GPD1 T>G	12	50498139	50498139	T	G	GPD1	c.42-218T>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498139T>G	(Likely) benign	1 lab	a9620a646d
6:17392949 MISSING Ref too long to show for this DEL>T	6	17392949	17545709	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.17392950_17545709del	VUS	1 lab	a527193450
5:127624698 FBN2 A>C	5	127624698	127624698	A	C	FBN2	c.6637+121T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624698A>C	(Likely) benign	1 lab	a529eefbc1
11:117280696 CEP164 G>A	11	117280696	117280696	G	A	CEP164	c.4096+15G>A	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117280696G>A	(Likely) benign	1 lab	a52edba962
2:74588691 DCTN1 G>C	2	74588691	74588691	G	C	DCTN1	c.3772C>G	NM_004082.5	NP_004073.2:p.(Gln1258Glu)	NC_000002.11:g.74588691G>C	VUS	1 lab	a533c1dcf7
13:113028031 MISSING T>Alt too long to show for this DUP	13	113028031	113670057	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.113028034_113670057dup	(Likely) pathogenic	1 lab	a5346692e6
19:1226491 STK11 C>T	19	1226491	1226491	C	T	STK11	c.1147C>T	NM_000455.5	NP_000446.1:p.(Arg383Cys)	NC_000019.9:g.1226491C>T	VUS	1 lab	a535500d64
X:91723249 PCDH11X A>Alt too long to show for this DUP	X	91723249	91878604	A	Alt too long to show for this DUP	PCDH11X				NC_000023.10:g.91723250_91878604dup	(Likely) pathogenic	1 lab	a5380b83af
20:45358121 SLC2A10 A>G	20	45358121	45358121	A	G	SLC2A10	c.1541A>G	NM_030777.4	NP_110404.1:p.(Lys514Arg)	NC_000020.10:g.45358121A>G	(Likely) benign	1 lab	a539a78cb1
7:147979976 MISSING T>Alt too long to show for this DUP	7	147979976	148238104	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.147979977_148238104dup	VUS	1 lab	a539d25a72
8:144297333 GPIHBP1 C>T	8	144297333	144297333	C	T	GPIHBP1	c.495C>T	NM_178172.6	NP_835466.2:p.(Gly165=)	NC_000008.10:g.144297333C>T	(Likely) benign	1 lab	a53d45558f
1:225609778 LBR C>A	1	225609778	225609778	C	A	LBR	c.366+1G>T	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225609778C>A	(Likely) pathogenic	1 lab	a544a3398a
9:107599396 ABCA1 C>A	9	107599396	107599396	C	A	ABCA1	c.1195-19G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599396C>A	(Likely) benign	1 lab	a548584dff
1:185834851 HMCN1 C>CT	1	185834851	185834864	C	CT	HMCN1	c.499-9dup	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185834864dup	(Likely) benign	1 lab	a551164e87
21:46888661 COL18A1 C>T	21	46888661	46888661	C	T	COL18A1	c.1857C>T	NM_130444.3	NP_569711.2:p.(Phe619=)	NC_000021.8:g.46888661C>T	(Likely) benign	1 lab	a55377f722
1:8418813 RERE C>T	1	8418813	8418813	C	T	RERE	c.3782G>A	NM_012102.4	NP_036234.3:p.(Arg1261Gln)	NC_000001.10:g.8418813C>T	VUS	1 lab	a554e0928e
12:32996104 PKP2 CAG>C	12	32996104	32996106	CAG	C	PKP2	c.1510+10_1510+11del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32996105_32996106del	(Likely) benign	1 lab	a557be2544
19:3771659 RAX2 G>A	19	3771659	3771659	G	A	RAX2	c.82C>T	NM_001319074.4	NP_001306003.2:p.(Arg28Trp)	NC_000019.9:g.3771659G>A	VUS	1 lab	a55b53ccc9
5:65321784 ERBIN C>T	5	65321784	65321784	C	T	ERBIN	c.999C>T	NM_001253697.2	NP_001240626.1:p.(Tyr333=)	NC_000005.9:g.65321784C>T	(Likely) benign	1 lab	a55c345159
17:37922198 IKZF3 C>T	17	37922198	37922198	C	T	IKZF3	c.634G>A	NM_001284514.2	NP_001271443.1:p.(Val212Ile)	NC_000017.10:g.37922198C>T	VUS	1 lab	a55feb962d
12:48389643 COL2A1 A>T	12	48389643	48389643	A	T	COL2A1	c.654+15T>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389643A>T	(Likely) benign	1 lab	a5606e1c39
1:118589003 SPAG17 Ref too long to show for this DEL>T	1	118589003	118678324	Ref too long to show for this DEL	T	SPAG17	c.315+14844_2815-4339del	NM_206996.4	NP_996879.1:p.?	NC_000001.10:g.118589006_118678324del	VUS	1 lab	a565ecb147
1:161276153 MPZ G>GC	1	161276153	161276155	G	GC	MPZ	c.549dup	NM_000530.8	NP_000521.2:p.(Leu184AlafsTer51)	NC_000001.10:g.161276155dup	(Likely) pathogenic	1 lab	a56ac85ad6
10:126086596 OAT A>G	10	126086596	126086596	A	G	OAT	c.1235T>C	NM_001322966.2	NP_001309895.1:p.(Ile412Thr)	NC_000010.10:g.126086596A>G	VUS	1 lab	a56b26e733
11:64573695 MEN1 G>A	11	64573695	64573695	G	A	MEN1	c.1064+9C>T	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64573695G>A	(Likely) benign	1 lab	a56c2e2e37
15:91358367 BLM C>T	15	91358367	91358367	C	T	BLM	c.4112C>T	NM_000057.4	NP_000048.1:p.(Thr1371Met)	NC_000015.9:g.91358367C>T	(Likely) benign	1 lab	a56d021f44
1:1235825 MISSING Ref too long to show for this DEL>A	1	1235825	1565945	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.1235826_1565945del	(Likely) pathogenic	1 lab	a57b200804
11:76869352 MYO7A G>T	11	76869352	76869352	G	T	MYO7A	c.879G>T	NM_000260.4	NP_000251.3:p.(Val293=)	NC_000011.9:g.76869352G>T	(Likely) benign	1 lab	a57cfba4a6
2:44047051 ABCG5 T>TA	2	44047051	44047052	T	TA	ABCG5	c.1649+2dup	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047052dup	VUS	1 lab	a57d32eb2c
15:48779549 FBN1 C>T	15	48779549	48779549	C	T	FBN1	c.3423G>A	NM_000138.5	NP_000129.3:p.(Pro1141=)	NC_000015.9:g.48779549C>T	(Likely) benign	1 lab	a57e38669e
3:170201317 SLC7A14 A>G	3	170201317	170201317	A	G	SLC7A14	c.907-6T>C	NM_020949.3	NP_066000.2:p.?	NC_000003.11:g.170201317A>G	(Likely) benign	1 lab	a5833b8ef1
1:43831227 ELOVL1 C>G	1	43831227	43831227	C	G	ELOVL1	c.46+8G>C	NM_001256399.2	NP_001243328.1:p.?	NC_000001.10:g.43831227C>G	(Likely) benign	1 lab	a5833ce6ae
21:47674741 MCM3AP T>TC	21	47674741	47674742	T	TC	MCM3AP	c.3949_3950insG	NM_003906.5	NP_003897.2:p.(Asn1317ArgfsTer19)	NC_000021.8:g.47674741_47674742insC	(Likely) pathogenic	1 lab	a58a16229f
16:81385286 GAN A>G	16	81385286	81385286	A	G	GAN	c.266A>G	NM_022041.4	NP_071324.1:p.(Tyr89Cys)	NC_000016.9:g.81385286A>G	(Likely) pathogenic	1 lab	a58cd5b453
5:127671258 FBN2 A>G	5	127671258	127671258	A	G	FBN2	c.3736T>C	NM_001999.4	NP_001990.2:p.(Cys1246Arg)	NC_000005.9:g.127671258A>G	(Likely) pathogenic	1 lab	a58ea3a331
2:21230101 APOB G>T	2	21230101	21230101	G	T	APOB	c.9639C>A	NM_000384.3	NP_000375.3:p.(Asn3213Lys)	NC_000002.11:g.21230101G>T	VUS	1 lab	a58ff7c4d5
9:107562779 ABCA1 A>G	9	107562779	107562779	A	G	ABCA1	c.4773+12T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562779A>G	(Likely) benign	1 lab	a5944a9b56
10:127618357 FANK1 Ref too long to show for this DEL>G	10	127618357	127690910	Ref too long to show for this DEL	G	FANK1	c.13+33135_540-2543del	NM_145235.5	NP_660278.3:p.?	NC_000010.10:g.127618359_127690910del	VUS	1 lab	a59ea3e85c
5:1254521 TERT C>T	5	1254521	1254521	C	T	TERT	c.3257G>A	NM_198253.3	NP_937983.2:p.(Arg1086His)	NC_000005.9:g.1254521C>T	(Likely) benign	1 lab	a5a0e45cfd
19:11230819 LDLR C>T	19	11230819	11230819	C	T	LDLR	c.1897C>T	NM_000527.5	NP_000518.1:p.(Arg633Cys)	NC_000019.9:g.11230819C>T	(Likely) pathogenic	1 lab	a5b240a1e2
2:21225409 APOB C>A	2	21225409	21225409	C	A	APOB	c.12885G>T	NM_000384.3	NP_000375.3:p.(Val4295=)	NC_000002.11:g.21225409C>A	(Likely) benign	1 lab	a5b4160abf
6:39883802 MOCS1 A>T	6	39883802	39883802	A	T	MOCS1	c.583+10T>A	NM_005943.6	NP_005934.2:p.?	NC_000006.11:g.39883802A>T	(Likely) benign	1 lab	a5b6e81af6
21:44477783 CBS C>T	21	44477783	44477783	C	T	CBS	c.1467+472G>A	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44477783C>T	(Likely) benign	1 lab	a5b87f45cb
16:31201608 FUS G>T	16	31201608	31201608	G	T	FUS	c.1181G>T	NM_004960.4	NP_004951.1:p.(Arg394Leu)	NC_000016.9:g.31201608G>T	(Likely) benign	1 lab	a5b924f2ee
11:116701286 APOC3 G>T	11	116701286	116701286	G	T	APOC3	c.-13G>T	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701286G>T	VUS	1 lab	a5bfc30457
1:87380777 HS2ST1 TTC>T	1	87380777	87380779	TTC	T	HS2ST1	c.59_60del	NM_012262.4	NP_036394.1:p.(Phe20CysfsTer34)	NC_000001.10:g.87380778_87380779del	VUS	1 lab	a5d19bd00f
6:79770392 PHIP T>C	6	79770392	79770392	T	C	PHIP	c.333A>G	NM_017934.7	NP_060404.4:p.(Thr111=)	NC_000006.11:g.79770392T>C	(Likely) benign	1 lab	a5d9805564
6:135778863 AHI1 G>GA	6	135778863	135778872	G	GA	AHI1	c.932-13dup	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135778872dup	(Likely) benign	1 lab	a5df3231d0
7:128489057 FLNC C>G	7	128489057	128489057	C	G	FLNC	c.4927+21C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128489057C>G	(Likely) benign	1 lab	a5e6c6783d
1:146507517 MISSING Ref too long to show for this DEL>G	1	146507517	147907921	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.146507518_147907921del	(Likely) pathogenic	1 lab	a5e9703378
22:46761565 CELSR1 G>C	22	46761565	46761565	G	C	CELSR1	c.8322C>G	NM_001378328.1	NP_001365257.1:p.(Leu2774=)	NC_000022.10:g.46761565G>C	(Likely) benign	1 lab	a5eb4f6835
3:10195368 MISSING T>Alt too long to show for this DUP	3	10195368	10344111	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.10195370_10344111dup	VUS	1 lab	a5ed3bc61e
2:179511886 TTN G>C	2	179511886	179511886	G	C	TTN	c.40142-15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511886G>C	VUS	1 lab	a5f09d807e
15:48760629 FBN1 G>A	15	48760629	48760629	G	A	FBN1	c.4562C>T	NM_000138.5	NP_000129.3:p.(Pro1521Leu)	NC_000015.9:g.48760629G>A	VUS	1 lab	a5f3997ca7
1:89061040 MISSING A>Alt too long to show for this DUP	1	89061040	89456712	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.89061042_89456712dup	VUS	1 lab	a5fcac8487
7:50544314 DDC C>T	7	50544314	50544314	C	T	DDC	c.1041+8G>A	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50544314C>T	(Likely) benign	1 lab	a5fe1d6730
3:114069150 ZBTB20 T>C	3	114069150	114069150	T	C	ZBTB20	c.1556A>G	NM_001164343.2	NP_001157815.1:p.(Asn519Ser)	NC_000003.11:g.114069150T>C	(Likely) pathogenic	1 lab	a602360a01
2:220502537 SLC4A3 C>T	2	220502537	220502537	C	T	SLC4A3	c.2847+4C>T	NM_201574.3	NP_963868.3:p.?	NC_000002.11:g.220502537C>T	(Likely) benign	1 lab	a604c20209
1:10035700 NMNAT1 A>G	1	10035700	10035700	A	G	NMNAT1	c.166A>G	NM_001297778.1	NP_001284707.1:p.(Lys56Glu)	NC_000001.10:g.10035700A>G	VUS	1 lab	a608547088
11:68701333 IGHMBP2 G>T	11	68701333	68701333	G	T	IGHMBP2	c.1489G>T	NM_002180.3	NP_002171.2:p.(Gly497Trp)	NC_000011.9:g.68701333G>T	VUS	1 lab	a60ba15b06
15:89758320 RLBP1 A>C	15	89758320	89758320	A	C	RLBP1	c.496T>G	NM_000326.5	NP_000317.1:p.(Trp166Gly)	NC_000015.9:g.89758320A>C	(Likely) pathogenic	1 lab	a60f4cd9a1
19:1220648 STK11 C>T	19	1220648	1220648	C	T	STK11	c.666C>T	NM_000455.5	NP_000446.1:p.(Pro222=)	NC_000019.9:g.1220648C>T	(Likely) benign	1 lab	a60f80a6ee
8:19816934 LPL T>C	8	19816934	19816934	T	C	LPL	c.1139+43T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816934T>C	(Likely) benign	1 lab	a611a69f02
6:79735235 PHIP CTTTAT>C	6	79735235	79735244	CTTTAT	C	PHIP	c.919_923del	NM_017934.7	NP_060404.4:p.(Ile307ProfsTer22)	NC_000006.11:g.79735240_79735244del	(Likely) pathogenic	1 lab	a614a6fd45
3:71027071 FOXP1 TG>T	3	71027071	71027074	TG	T	FOXP1	c.1255del	NM_001244808.3	NP_001231737.1:p.(Gln419LysfsTer54)	NC_000003.11:g.71027074del	(Likely) pathogenic	1 lab	a614b510a4
11:118039451 SCN2B C>T	11	118039451	118039451	C	T	SCN2B	c.86G>A	NM_004588.5	NP_004579.1:p.(Ser29Asn)	NC_000011.9:g.118039451C>T	VUS	1 lab	a615bdb5f6
7:150648701 KCNH2 C>T	7	150648701	150648701	C	T	KCNH2	c.1780G>A	NM_000238.4	NP_000229.1:p.(Gly594Ser)	NC_000007.13:g.150648701C>T	(Likely) pathogenic	1 lab	a61772a1d3
16:88599240 ZFPM1 C>T	16	88599240	88599240	C	T	ZFPM1	c.1086C>T	NM_153813.3	NP_722520.2:p.(Ile362=)	NC_000016.9:g.88599240C>T	(Likely) benign	1 lab	a61be29d99
14:97319256 VRK1 T>A	14	97319256	97319256	T	A	VRK1	c.463T>A	NM_003384.3	NP_003375.1:p.(Leu155Met)	NC_000014.8:g.97319256T>A	VUS	1 lab	a62068fc4b
9:107581963 ABCA1 C>T	9	107581963	107581963	C	T	ABCA1	c.3145G>A	NM_005502.4	NP_005493.2:p.(Gly1049Arg)	NC_000009.11:g.107581963C>T	VUS	1 lab	a6206c642b
11:99089089 CNTN5 Ref too long to show for this DEL>A	11	99089089	99191079	Ref too long to show for this DEL	A	CNTN5	c.-209-106987_-209-4998del	NM_014361.4	NP_055176.1:p.?	NC_000011.9:g.99089090_99191079del	VUS	1 lab	a6210908c9
14:64516556 SYNE2 A>G	14	64516556	64516556	A	G	SYNE2	c.7605A>G	NM_182914.3	NP_878918.2:p.(Ser2535=)	NC_000014.8:g.64516556A>G	(Likely) benign	1 lab	a6253d2877
9:137707451 COL5A1 C>CT	9	137707451	137707452	C	CT	COL5A1	c.4044_4045insT	NM_000093.5	NP_000084.3:p.(Pro1349SerfsTer16)	NC_000009.11:g.137707451_137707452insT	(Likely) pathogenic	1 lab	a6255f6dff
4:69513007 UGT2B15 G>A	4	69513007	69513007	G	A	UGT2B15	c.1408C>T	NM_001076.4	NP_001067.2:p.(Arg470Cys)	NC_000004.11:g.69513007G>A	(Likely) benign	1 lab	a62a1608c5
22:50893012 SBF1 G>A	22	50893012	50893012	G	A	SBF1	c.4972C>T	NM_002972.4	NP_002963.2:p.(Arg1658Cys)	NC_000022.10:g.50893012G>A	VUS	1 lab	a62a38ad6e
4:38690313 KLF3 C>T	4	38690313	38690313	C	T	KLF3	c.165C>T	NM_016531.6	NP_057615.3:p.(His55=)	NC_000004.11:g.38690313C>T	(Likely) benign	1 lab	a633d47511
1:35251060 GJB3 G>A	1	35251060	35251060	G	A	GJB3	c.697G>A	NM_024009.3	NP_076872.1:p.(Ala233Thr)	NC_000001.10:g.35251060G>A	(Likely) benign	1 lab	a634804c83
9:107548677 ABCA1 G>A	9	107548677	107548677	G	A	ABCA1	c.6309-6C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548677G>A	(Likely) benign	1 lab	a634c5e173
7:107671231 LAMB4 G>T	7	107671231	107671231	G	T	LAMB4	c.4992+20C>A	NM_007356.3	NP_031382.2:p.?	NC_000007.13:g.107671231G>T	(Likely) benign	1 lab	a639b6c053
1:12058844 MFN2 C>T	1	12058844	12058844	C	T	MFN2	c.617C>T	NM_014874.4	NP_055689.1:p.(Thr206Ile)	NC_000001.10:g.12058844C>T	(Likely) pathogenic	1 lab	a63e5048ab
1:25880397 LDLRAP1 C>T	1	25880397	25880397	C	T	LDLRAP1	c.89-16C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880397C>T	(Likely) benign	1 lab	a63eed31b1
2:179557280 TTN G>A	2	179557280	179557280	G	A	TTN	c.31622C>T	NM_001267550.2	NP_001254479.2:p.(Pro10541Leu)	NC_000002.11:g.179557280G>A	VUS	1 lab	a642c61f33
2:50837493 MISSING Ref too long to show for this DEL>G	2	50837493	51316020	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.50837496_51316020del	(Likely) pathogenic	1 lab	a6453dd691
14:90867637 CALM1 T>C	14	90867637	90867637	T	C	CALM1	c.69T>C	NM_006888.6	NP_008819.1:p.(Asp23=)	NC_000014.8:g.90867637T>C	(Likely) benign	1 lab	a647c1f454
5:123934508 MISSING A>Alt too long to show for this DUP	5	123934508	124073185	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.123934511_124073185dup	VUS	1 lab	a6480c4378
2:179406102 TTN A>C	2	179406102	179406102	A	C	TTN	c.97702T>G	NM_001267550.2	NP_001254479.2:p.(Leu32568Val)	NC_000002.11:g.179406102A>C	VUS	1 lab	a64896c681
12:48373836 COL2A1 C>T	12	48373836	48373836	C	T	COL2A1	c.2635G>A	NM_001844.5	NP_001835.3:p.(Gly879Arg)	NC_000012.11:g.48373836C>T	VUS	1 lab	a64d95824f
20:62612659 PRPF6 C>T	20	62612659	62612659	C	T	PRPF6	c.61C>T	NM_012469.4	NP_036601.2:p.(Leu21=)	NC_000020.10:g.62612659C>T	(Likely) benign	1 lab	a65018534f
3:195515045 MUC4 A>G	3	195515045	195515045	A	G	MUC4	c.3406T>C	NM_018406.7	NP_060876.5:p.(Ser1136Pro)	NC_000003.11:g.195515045A>G	(Likely) benign	1 lab	a65195ff86
13:24330751 MIPEP G>A	13	24330751	24330751	G	A	MIPEP	c.1977C>T	NM_005932.4	NP_005923.3:p.(Ala659=)	NC_000013.10:g.24330751G>A	(Likely) benign	1 lab	a65d56b467
X:70444443 GJB1 C>A	X	70444443	70444443	C	A	GJB1	c.*34C>A	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70444443C>A	(Likely) benign	1 lab	a65d8e5079
1:10342352 KIF1B C>T	1	10342352	10342352	C	T	KIF1B	c.1163-106C>T	NM_015074.3	NP_055889.2:p.?	NC_000001.10:g.10342352C>T	(Likely) benign	1 lab	a6673f76a5
9:2766722 MISSING A>Alt too long to show for this DUP	9	2766722	2832760	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.2766723_2832760dup	VUS	1 lab	a6736d8009
1:1634926 CDK11A G>A	1	1634926	1634926	G	A	CDK11A	c.2049C>T	NM_024011.4	NP_076916.2:p.(Asp683=)	NC_000001.10:g.1634926G>A	(Likely) benign	1 lab	a673b84bc9
1:240497454 FMN2 G>T	1	240497454	240497454	G	T	FMN2	c.4702G>T	NM_001305424.2	NP_001292353.1:p.(Asp1568Tyr)	NC_000001.10:g.240497454G>T	VUS	1 lab	a675a04d62
15:48713638 FBN1 G>GC	15	48713638	48713644	G	GC	FBN1	c.7699+116dup	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48713644dup	(Likely) benign	1 lab	a675b68e3a
12:30833247 IPO8 G>A	12	30833247	30833247	G	A	IPO8	c.639+169C>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30833247G>A	(Likely) benign	1 lab	a677df34c6
2:15467848 NBAS C>Alt too long to show for this DUP	2	15467848	15522015	C	Alt too long to show for this DUP	NBAS	c.3360+1326_4582+25dup	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15467851_15522015dup	VUS	1 lab	a67992eec1
6:49421398 MMUT A>G	6	49421398	49421398	A	G	MMUT	c.983T>C	NM_000255.4	NP_000246.2:p.(Leu328Pro)	NC_000006.11:g.49421398A>G	(Likely) pathogenic	1 lab	a67c32b18f
5:178413941 GRM6 C>T	5	178413941	178413941	C	T	GRM6	c.1398G>A	NM_000843.4	NP_000834.2:p.(Ala466=)	NC_000005.9:g.178413941C>T	(Likely) benign	1 lab	a680c7cd2b
9:79936634 VPS13A A>G	9	79936634	79936634	A	G	VPS13A	c.5802A>G	NM_033305.3	NP_150648.2:p.(Leu1934=)	NC_000009.11:g.79936634A>G	(Likely) benign	1 lab	a685cb8bf9
8:59411029 CYP7A1 C>T	8	59411029	59411029	C	T	CYP7A1	c.81-1G>A	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59411029C>T	(Likely) pathogenic	1 lab	a68712195a
1:156096668 LMNA G>A	1	156096668	156096668	G	A	LMNA	c.75G>A	NM_001282624.2	NP_001269553.1:p.(Pro25=)	NC_000001.10:g.156096668G>A	(Likely) benign	1 lab	a687730833
15:72040948 THSD4 G>A	15	72040948	72040948	G	A	THSD4	c.2415+15G>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72040948G>A	(Likely) benign	1 lab	a68b4e4dde
2:179422735 TTN C>T	2	179422735	179422735	C	T	TTN	c.79642G>A	NM_133378.4	NP_596869.4:p.(Glu26548Lys)	NC_000002.11:g.179422735C>T	VUS	1 lab	a68baead6f
6:32036303 TNXB G>A	6	32036303	32036303	G	A	TNXB	c.6084C>T	NM_019105.8	NP_061978.6:p.(Pro2028=)	NC_000006.11:g.32036303G>A	(Likely) benign	1 lab	a68d90ed0d
7:6448747 MISSING T>Alt too long to show for this DUP	7	6448747	6522962	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.6448748_6522962dup	VUS	1 lab	a68f02f2f2
18:47108714 LIPG G>A	18	47108714	47108714	G	A	LIPG	c.1037-18G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47108714G>A	(Likely) benign	1 lab	a69085c087
X:19375793 PDHA1 G>GACTT	X	19375793	19375799	G	GACTT	PDHA1	c.858_861dup	NM_000284.4	NP_000275.1:p.(Arg288LeufsTer10)	NC_000023.10:g.19375796_19375799dup	(Likely) pathogenic	1 lab	a696081f39
5:73109488 ARHGEF28 G>A	5	73109488	73109488	G	A	ARHGEF28	c.75G>A	NM_001244364.2	NP_001231293.1:p.(Thr25=)	NC_000005.9:g.73109488G>A	(Likely) benign	1 lab	a69673485d
8:22067070 BMP1 C>T	8	22067070	22067070	C	T	BMP1	c.2688C>T	NM_006129.5	NP_006120.1:p.(Ala896=)	NC_000008.10:g.22067070C>T	(Likely) benign	1 lab	a69e1eea91
10:94376497 KIF11 ACT>A	10	94376497	94376501	ACT	A	KIF11	c.1039_1040del	NM_004523.4	NP_004514.2:p.(Leu347GlufsTer8)	NC_000010.10:g.94376500_94376501del	(Likely) pathogenic	1 lab	a69ec2b7e4
14:23894051 MYH7 C>T	14	23894051	23894051	C	T	MYH7	c.2606G>A	NM_000257.4	NP_000248.2:p.(Arg869His)	NC_000014.8:g.23894051C>T	VUS	1 lab	a6a5077bd6
19:10108714 COL5A3 G>A	19	10108714	10108714	G	A	COL5A3	c.1159-13C>T	NM_015719.4	NP_056534.2:p.?	NC_000019.9:g.10108714G>A	(Likely) benign	1 lab	ace97f205c
4:190876268 FRG1 A>G	4	190876268	190876268	A	G	FRG1	c.394A>G	NM_004477.3	NP_004468.1:p.(Ile132Val)	NC_000004.11:g.190876268A>G	(Likely) benign	1 lab	a6a8b2ea70
10:70190404 DNA2 T>A	10	70190404	70190404	T	A	DNA2	c.1997A>T	NM_001080449.3	NP_001073918.2:p.(Tyr666Phe)	NC_000010.10:g.70190404T>A	VUS	1 lab	a6ac2ad5db
2:21234859 APOB A>C	2	21234859	21234859	A	C	APOB	c.4881T>G	NM_000384.3	NP_000375.3:p.(Asn1627Lys)	NC_000002.11:g.21234859A>C	(Likely) benign	1 lab	a6ae6795ee
2:179477504 TTN C>T	2	179477504	179477504	C	T	TTN	c.49944G>A	NM_001267550.2	NP_001254479.2:p.(Lys16648=)	NC_000002.11:g.179477504C>T	(Likely) benign	1 lab	a6b1863608
18:34320630 FHOD3 G>A	18	34320630	34320630	G	A	FHOD3	c.3588G>A	NM_001281740.3	NP_001268669.1:p.(Thr1196=)	NC_000018.9:g.34320630G>A	(Likely) benign	1 lab	a6b360a068
19:50905655 POLD1 G>A	19	50905655	50905655	G	A	POLD1	c.758+25G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50905655G>A	(Likely) benign	1 lab	a6c082e455
X:43286418 MISSING A>Alt too long to show for this DUP	X	43286418	43752512	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.43286419_43752512dup	(Likely) pathogenic	1 lab	a6c41410b5
7:135423237 MISSING C>Alt too long to show for this DUP	7	135423237	135478022	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.135423238_135478022dup	VUS	1 lab	a6c5603bd3
X:99657498 PCDH19 ACAGAGCCACTTAGCTGCACTCACCTCAGG>A	X	99657498	99657532	ACAGAGCCACTTAGCTGCACTCACCTCAGG	A	PCDH19	c.2611_2616+23del	NM_001184880.2	NP_001171809.1:p.?	NC_000023.10:g.99657504_99657532del	(Likely) pathogenic	1 lab	a6ce68e91d
18:19395794 MIB1 A>G	18	19395794	19395794	A	G	MIB1	c.1677+20A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19395794A>G	(Likely) benign	1 lab	a6cea0b6cb
15:58840699 LIPC C>T	15	58840699	58840699	C	T	LIPC	c.979C>T	NM_000236.3	NP_000227.2:p.(His327Tyr)	NC_000015.9:g.58840699C>T	(Likely) benign	1 lab	a6cff3481f
17:36492948 GPR179 C>T	17	36492948	36492948	C	T	GPR179	c.1140G>A	NM_001004334.4	NP_001004334.3:p.(Leu380=)	NC_000017.10:g.36492948C>T	(Likely) benign	1 lab	a6d29a8a30
22:51154145 SHANK3 TC>T	22	51154145	51154147	TC	T	SHANK3	c.2541del	NM_001372044.2	NP_001358973.1:p.(Leu848CysfsTer11)	NC_000022.10:g.51154147del	(Likely) pathogenic	1 lab	a6dfdae514
12:21358783 SLCO1B1 G>A	12	21358783	21358783	G	A	SLCO1B1	c.1332-19G>A	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358783G>A	(Likely) benign	1 lab	a6e1e63aa1
X:122622933 GRIA3 TAC>T	X	122622933	122622968	TAC	T	GRIA3	c.*406_*407del	NM_000828.5	NP_000819.4:p.?	NC_000023.10:g.122622967_122622968del	(Likely) benign	1 lab	a6e307fabc
3:59738055 FHIT G>GA	3	59738055	59738064	G	GA	FHIT	c.349-9dup	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.59738064dup	(Likely) benign	1 lab	a6e9823dd3
4:100528071 MTTP C>G	4	100528071	100528071	C	G	MTTP	c.1511C>G	NM_000253.4	NP_000244.2:p.(Ala504Gly)	NC_000004.11:g.100528071C>G	VUS	1 lab	a6eb1fde33
1:215972285 USH2A C>T	1	215972285	215972285	C	T	USH2A	c.9922G>A	NM_206933.4	NP_996816.3:p.(Gly3308Ser)	NC_000001.10:g.215972285C>T	VUS	1 lab	a6fce3691f
1:149791974 MISSING Ref too long to show for this DEL>G	1	149791974	149844982	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.149791976_149844982del	VUS	1 lab	a707030581
3:136261014 STAG1 G>A	3	136261014	136261014	G	A	STAG1	c.418C>T	NM_005862.3	NP_005853.2:p.(Arg140Ter)	NC_000003.11:g.136261014G>A	(Likely) pathogenic	1 lab	a709b7d2f2
3:178916807 PIK3CA A>C	3	178916807	178916807	A	C	PIK3CA	c.194A>C	NM_006218.4	NP_006209.2:p.(Glu65Ala)	NC_000003.11:g.178916807A>C	(Likely) benign	1 lab	a70adc70bd
2:21259612 APOB A>G	2	21259612	21259612	A	G	APOB	c.693+360T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21259612A>G	(Likely) benign	1 lab	a7125cd4ff
17:75484965 SEPTIN9 G>A	17	75484965	75484965	G	A	SEPTIN9	c.1208+19G>A	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484965G>A	(Likely) benign	1 lab	a715cffd31
3:195511070 MUC4 C>G	3	195511070	195511070	C	G	MUC4	c.7381G>C	NM_018406.7	NP_060876.5:p.(Asp2461His)	NC_000003.11:g.195511070C>G	(Likely) benign	1 lab	a7160c6737
X:32305769 DMD T>G	X	32305769	32305769	T	G	DMD	c.6167A>C	NM_004006.3	NP_003997.2:p.(His2056Pro)	NC_000023.10:g.32305769T>G	VUS	1 lab	a7170cd22d
7:21824076 DNAH11 AAC>A	7	21824076	21824079	AAC	A	DNAH11	c.9517_9518del	NM_001277115.2	NP_001264044.1:p.(Gln3173GlufsTer4)	NC_000007.13:g.21824078_21824079del	(Likely) pathogenic	1 lab	a71845412d
4:107163619 TBCK TTTCTTACATTTCTTAGCTGGCATAACGACAATGTCACAGTGGTATCATCTAAAAGCGAGCTTCTATCTCGACCTTGTCCAAAGCTTTCACCATCCTCAAAGAGAAAACTGAAAA>T	4	107163619	107163733	TTTCTTACATTTCTTAGCTGGCATAACGACAATGTCACAGTGGTATCATCTAAAAGCGAGCTTCTATCTCGACCTTGTCCAAAGCTTTCACCATCCTCAAAGAGAAAACTGAAAA	T	TBCK	c.1071-7_1170+7del	NM_001163435.3	NP_001156907.2:p.?	NC_000004.11:g.107163620_107163733del	(Likely) pathogenic	1 lab	a718e7a864
9:2718866 KCNV2 T>TG	9	2718866	2718867	T	TG	KCNV2	c.1128dup	NM_133497.4	NP_598004.1:p.(Arg377AlafsTer122)	NC_000009.11:g.2718867dup	(Likely) pathogenic	1 lab	a71ed01a9f
11:45958029 PHF21A ATGGATAACTCCTTACCTGCTT>A	11	45958029	45958052	ATGGATAACTCCTTACCTGCTT	A	PHF21A	c.1679_1684+15del	NM_001352025.3	NP_001338954.1:p.?	NC_000011.9:g.45958032_45958052del	(Likely) pathogenic	1 lab	a71f24e66d
17:40690431 NAGLU G>A	17	40690431	40690431	G	A	NAGLU	c.606G>A	NM_000263.4	NP_000254.2:p.(Gly202=)	NC_000017.10:g.40690431G>A	(Likely) benign	1 lab	a7208c1080
15:48812977 FBN1 G>A	15	48812977	48812977	G	A	FBN1	c.1026C>T	NM_000138.5	NP_000129.3:p.(Asn342=)	NC_000015.9:g.48812977G>A	(Likely) benign	1 lab	a727f5eb1c
1:12059084 MFN2 C>T	1	12059084	12059084	C	T	MFN2	c.748C>T	NM_014874.4	NP_055689.1:p.(Arg250Trp)	NC_000001.10:g.12059084C>T	VUS	1 lab	a728982805
7:128478642 FLNC C>T	7	128478642	128478642	C	T	FLNC	c.1211-15C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128478642C>T	(Likely) benign	1 lab	a7292ce446
18:19321783 MIB1 G>C	18	19321783	19321783	G	C	MIB1	c.229+10G>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19321783G>C	(Likely) benign	1 lab	a72ffedb4e
10:86018328 RGR A>G	10	86018328	86018328	A	G	RGR	c.821A>G	NM_002921.4	NP_002912.2:p.(Glu274Gly)	NC_000010.10:g.86018328A>G	VUS	1 lab	a735c3df14
5:37206502 CPLANE1 C>T	5	37206502	37206502	C	T	CPLANE1	c.2946G>A	NM_001384732.1	NP_001371661.1:p.(Leu982=)	NC_000005.9:g.37206502C>T	(Likely) benign	1 lab	a735c6d832
X:70443601 GJB1 G>A	X	70443601	70443601	G	A	GJB1	c.44G>A	NM_000166.6	NP_000157.1:p.(Arg15Gln)	NC_000023.10:g.70443601G>A	(Likely) pathogenic	1 lab	a7389970bb
13:98660268 MISSING C>Alt too long to show for this DUP	13	98660268	98726969	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.98660269_98726969dup	VUS	1 lab	a73c73a3dc
6:123869769 TRDN T>TA	6	123869769	123869784	T	TA	TRDN	c.233-13dup	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123869784dup	(Likely) benign	1 lab	a73cb433fb
16:77328933 ADAMTS18 G>A	16	77328933	77328933	G	A	ADAMTS18	c.2893C>T	NM_199355.4	NP_955387.1:p.(Gln965Ter)	NC_000016.9:g.77328933G>A	(Likely) pathogenic	1 lab	a74043ea8d
15:58082239 MISSING G>Alt too long to show for this DUP	15	58082239	58451473	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.58082240_58451473dup	VUS	1 lab	a740eec045
2:61315324 SANBR G>C	2	61315324	61315324	G	C	SANBR	c.921G>C	NM_001129993.3	NP_001123465.1:p.(Leu307=)	NC_000002.11:g.61315324G>C	(Likely) benign	1 lab	a741c90d4c
1:63068145 ANGPTL3 C>T	1	63068145	63068145	C	T	ANGPTL3	c.931+94C>T	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63068145C>T	(Likely) benign	1 lab	a747b56cb5
5:79483268 SERINC5 Ref too long to show for this DEL>T	5	79483268	79497223	Ref too long to show for this DEL	T	SERINC5	c.195+1482_196-9383del	NM_001174072.3	NP_001167543.1:p.?	NC_000005.9:g.79483269_79497223del	VUS	1 lab	a75d217e3f
5:148421050 SH3TC2 C>G	5	148421050	148421050	C	G	SH3TC2	c.660G>C	NM_024577.4	NP_078853.2:p.(Val220=)	NC_000005.9:g.148421050C>G	(Likely) benign	1 lab	a75d651c3f
15:81271635 MESD T>C	15	81271635	81271635	T	C	MESD	c.630A>G	NM_015154.3	NP_055969.1:p.(Lys210=)	NC_000015.9:g.81271635T>C	(Likely) benign	1 lab	a7614361d5
17:36491089 GPR179 A>T	17	36491089	36491089	A	T	GPR179	c.1472T>A	NM_001004334.4	NP_001004334.3:p.(Leu491Gln)	NC_000017.10:g.36491089A>T	VUS	1 lab	a766bbc984
2:44055156 ABCG5 C>T	2	44055156	44055156	C	T	ABCG5	c.600G>A	NM_022436.3	NP_071881.1:p.(Arg200=)	NC_000002.11:g.44055156C>T	(Likely) benign	1 lab	a7692e390e
13:20000642 TPTE2 C>T	13	20000642	20000642	C	T	TPTE2	c.1318G>A	NM_199254.3	NP_954863.2:p.(Glu440Lys)	NC_000013.10:g.20000642C>T	(Likely) benign	1 lab	a76a96cda5
12:124413145 DNAH10 A>G	12	124413145	124413145	A	G	DNAH10	c.11952+11A>G	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124413145A>G	(Likely) benign	1 lab	a778bab65e
11:75279971 SERPINH1 G>A	11	75279971	75279971	G	A	SERPINH1	c.722-13G>A	NM_001235.5	NP_001226.2:p.?	NC_000011.9:g.75279971G>A	(Likely) benign	1 lab	a77d2f9ece
19:11200455 LDLR G>A	19	11200455	11200455	G	A	LDLR	c.67+164G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200455G>A	(Likely) benign	1 lab	a783ddecb4
9:137694012 COL5A1 G>A	9	137694012	137694012	G	A	COL5A1	c.3006+159G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137694012G>A	(Likely) benign	1 lab	a789678b3a
1:156834212 NTRK1 G>A	1	156834212	156834212	G	A	NTRK1	c.279G>A	NM_002529.4	NP_002520.2:p.(Leu93=)	NC_000001.10:g.156834212G>A	(Likely) benign	1 lab	a78c625840
9:107584945 ABCA1 C>A	9	107584945	107584945	C	A	ABCA1	c.2660G>T	NM_005502.4	NP_005493.2:p.(Cys887Phe)	NC_000009.11:g.107584945C>A	VUS	1 lab	a78cb334f7
19:11227292 LDLR G>A	19	11227292	11227292	G	A	LDLR	c.1706-243G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227292G>A	(Likely) benign	1 lab	a78dc85a74
11:1016995 MUC6 T>C	11	1016995	1016995	T	C	MUC6	c.5806A>G	NM_005961.3	NP_005952.2:p.(Thr1936Ala)	NC_000011.9:g.1016995T>C	(Likely) benign	1 lab	a78ea5a80f
X:54573468 MISSING C>Alt too long to show for this DUP	X	54573468	54766252	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.54573469_54766252dup	VUS	1 lab	a79101273b
4:120085560 MYOZ2 G>T	4	120085560	120085560	G	T	MYOZ2	c.560+11G>T	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120085560G>T	(Likely) benign	1 lab	a795acd9cd
1:17322776 ATP13A2 G>A	1	17322776	17322776	G	A	ATP13A2	c.1326C>T	NM_022089.4	NP_071372.1:p.(Tyr442=)	NC_000001.10:g.17322776G>A	(Likely) benign	1 lab	a7984fb86e
19:11231114 LDLR C>T	19	11231114	11231114	C	T	LDLR	c.2056C>T	NM_000527.5	NP_000518.1:p.(Gln686Ter)	NC_000019.9:g.11231114C>T	(Likely) pathogenic	1 lab	a799243eed
3:136240099 STAG1 G>C	3	136240099	136240099	G	C	STAG1	c.632C>G	NM_005862.3	NP_005853.2:p.(Ser211Ter)	NC_000003.11:g.136240099G>C	(Likely) pathogenic	1 lab	a79beb5cce
12:49425047 KMT2D C>T	12	49425047	49425047	C	T	KMT2D	c.13441G>A	NM_003482.4	NP_003473.3:p.(Glu4481Lys)	NC_000012.11:g.49425047C>T	VUS	1 lab	a7a0154c6b
3:48618703 COL7A1 C>T	3	48618703	48618703	C	T	COL7A1	c.4889G>A	NM_000094.4	NP_000085.1:p.(Arg1630Gln)	NC_000003.11:g.48618703C>T	(Likely) benign	1 lab	a7a150282d
9:139328481 INPP5E C>T	9	139328481	139328481	C	T	INPP5E	c.1034+8G>A	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139328481C>T	(Likely) benign	1 lab	a7ab1c9ec5
7:12202590 MISSING Ref too long to show for this DEL>G	7	12202590	12534297	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.12202591_12534297del	VUS	1 lab	a7add9a29b
15:48818133 FBN1 C>T	15	48818133	48818133	C	T	FBN1	c.988+194G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818133C>T	(Likely) benign	1 lab	a7b00dd65c
17:57272602 MISSING C>Alt too long to show for this DUP	17	57272602	57725949	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.57272603_57725949dup	VUS	1 lab	a7b14e8a43
9:107646762 ABCA1 C>T	9	107646762	107646762	C	T	ABCA1	c.248G>A	NM_005502.4	NP_005493.2:p.(Arg83His)	NC_000009.11:g.107646762C>T	VUS	1 lab	a7b7b2d4ad
11:66335028 CTSF C>T	11	66335028	66335028	C	T	CTSF	c.418G>A	NM_003793.4	NP_003784.2:p.(Ala140Thr)	NC_000011.9:g.66335028C>T	(Likely) benign	1 lab	a7bac98bec
14:21811338 RPGRIP1 C>T	14	21811338	21811338	C	T	RPGRIP1	c.3483C>T	NM_020366.4	NP_065099.3:p.(Ser1161=)	NC_000014.8:g.21811338C>T	(Likely) benign	1 lab	a7c450cfdf
2:179402353 TTN G>A	2	179402353	179402353	G	A	TTN	c.94658C>T	NM_001256850.1	NP_001243779.1:p.(Pro31553Leu)	NC_000002.11:g.179402353G>A	VUS	1 lab	a7d118f931
18:29126581 DSG2 G>A	18	29126581	29126581	G	A	DSG2	c.3232G>A	NM_001943.5	NP_001934.2:p.(Gly1078Arg)	NC_000018.9:g.29126581G>A	VUS	1 lab	a7d5f7a936
3:30664852 TGFBR2 A>G	3	30664852	30664852	A	G	TGFBR2	c.169+87A>G	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30664852A>G	(Likely) benign	1 lab	a7d7abd511
X:70443826 GJB1 T>A	X	70443826	70443826	T	A	GJB1	c.269T>A	NM_000166.6	NP_000157.1:p.(Leu90His)	NC_000023.10:g.70443826T>A	(Likely) pathogenic	1 lab	a7d92a9b3d
16:88504585 ZNF469 C>T	16	88504585	88504585	C	T	ZNF469	c.10707C>T	NM_001367624.2	NP_001354553.1:p.(Cys3569=)	NC_000016.9:g.88504585C>T	(Likely) benign	1 lab	a7ddbc2a70
12:50500615 GPD1 T>A	12	50500615	50500615	T	A	GPD1	c.527T>A	NM_005276.4	NP_005267.2:p.(Leu176His)	NC_000012.11:g.50500615T>A	VUS	1 lab	a7dfc00cf7
16:75665316 KARS1 TCA>T	16	75665316	75665318	TCA	T	KARS1	c.1332_1333del	NM_001130089.2	NP_001123561.1:p.(Glu445ArgfsTer7)	NC_000016.9:g.75665317_75665318del	(Likely) pathogenic	1 lab	a7e1cd4b2c
16:46500540 MISSING A>Alt too long to show for this DUP	16	46500540	47110048	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.46500542_47110048dup	VUS	1 lab	a7e3a9eeb8
16:88504673 ZNF469 G>T	16	88504673	88504673	G	T	ZNF469	c.10795G>T	NM_001367624.2	NP_001354553.1:p.(Ala3599Ser)	NC_000016.9:g.88504673G>T	(Likely) benign	1 lab	a7e8ab0e19
2:21249842 APOB A>G	2	21249842	21249842	A	G	APOB	c.2068-6T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21249842A>G	(Likely) benign	1 lab	a7ecd44985
11:116701297 APOC3 C>A	11	116701297	116701297	C	A	APOC3	c.-2C>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701297C>A	VUS	1 lab	a7ef06a2c4
17:15134345 PMP22 C>T	17	15134345	15134345	C	T	PMP22	c.372G>A	NM_000304.4	NP_000295.1:p.(Trp124Ter)	NC_000017.10:g.15134345C>T	(Likely) pathogenic	1 lab	a7f0e502c9
4:55594117 KIT T>C	4	55594117	55594117	T	C	KIT	c.1879+24T>C	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55594117T>C	(Likely) benign	1 lab	a7f5d00317
11:119215475 C1QTNF5 T>G	11	119215475	119215475	T	G	C1QTNF5	c.-1864-8A>C	NM_015645.5	NP_056460.1:p.?	NC_000011.9:g.119215475T>G	(Likely) benign	1 lab	a7f5f14c76
5:118483105 MISSING T>Alt too long to show for this DUP	5	118483105	118605067	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.118483107_118605067dup	VUS	1 lab	a7f97383ff
12:110011289 MMAB C>G	12	110011289	110011289	C	G	MMAB	n.21G>C	NR_038118.2		NC_000012.11:g.110011289C>G	(Likely) benign	1 lab	a7fa1315b5
15:58834172 LIPC G>T	15	58834172	58834172	G	T	LIPC	c.456+6G>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834172G>T	(Likely) benign	1 lab	a7fe3ddf44
19:11216183 LDLR G>A	19	11216183	11216183	G	A	LDLR	c.601G>A	NM_000527.5	NP_000518.1:p.(Glu201Lys)	NC_000019.9:g.11216183G>A	(Likely) pathogenic	1 lab	a7ff48b218
X:99662249 PCDH19 G>T	X	99662249	99662249	G	T	PCDH19	c.1347C>A	NM_001184880.2	NP_001171809.1:p.(Asn449Lys)	NC_000023.10:g.99662249G>T	VUS	1 lab	a811419904
2:179413223 TTN C>A	2	179413223	179413223	C	A	TTN	c.93130G>T	NM_001267550.2	NP_001254479.2:p.(Gly31044Cys)	NC_000002.11:g.179413223C>A	VUS	1 lab	a811c8ec71
15:48726774 FBN1 C>T	15	48726774	48726774	C	T	FBN1	c.6616+17G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48726774C>T	(Likely) benign	1 lab	a819360be1
18:29171861 TTR G>A	18	29171861	29171861	G	A	TTR	c.-5G>A	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29171861G>A	(Likely) benign	1 lab	a81cc715fc
7:152055764 KMT2C C>CA	7	152055764	152055765	C	CA	KMT2C	c.162-5dup	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152055765dup	(Likely) benign	1 lab	a825be762b
2:179485588 TTN CTATCAAATATAGCTTCT>C	2	179485588	179485606	CTATCAAATATAGCTTCT	C	TTN	c.45732_45748del	NM_001267550.2	NP_001254479.2:p.(Glu15245PhefsTer17)	NC_000002.11:g.179485590_179485606del	(Likely) pathogenic	1 lab	a82a91698e
19:11231080 LDLR T>C	19	11231080	11231080	T	C	LDLR	c.2022T>C	NM_000527.5	NP_000518.1:p.(Asn674=)	NC_000019.9:g.11231080T>C	(Likely) benign	1 lab	a82b672398
11:78419513 TENM4 T>C	11	78419513	78419513	T	C	TENM4	c.4102A>G	NM_001098816.3	NP_001092286.2:p.(Met1368Val)	NC_000011.9:g.78419513T>C	VUS	1 lab	a82d33be8a
18:67614674 CD226 T>TA	18	67614674	67614685	T	TA	CD226	c.-33dup	NM_001303618.2	NP_001290547.1:p.?	NC_000018.9:g.67614685dup	(Likely) benign	1 lab	a82e06f4d1
2:25059855 ADCY3 G>A	2	25059855	25059855	G	A	ADCY3	c.1593C>T	NM_004036.5	NP_004027.2:p.(Thr531=)	NC_000002.11:g.25059855G>A	(Likely) benign	1 lab	a8322566fc
X:114877687 PLS3 A>G	X	114877687	114877687	A	G	PLS3	c.1050A>G	NM_005032.7	NP_005023.2:p.(Arg350=)	NC_000023.10:g.114877687A>G	(Likely) benign	1 lab	a83ca062a9
9:107665898 ABCA1 T>G	9	107665898	107665898	T	G	ABCA1	c.63A>C	NM_005502.4	NP_005493.2:p.(Gln21His)	NC_000009.11:g.107665898T>G	(Likely) benign	1 lab	a83d022fc9
2:86479194 REEP1 C>A	2	86479194	86479194	C	A	REEP1	c.304-1G>T	NM_001371279.1	NP_001358208.1:p.?	NC_000002.11:g.86479194C>A	(Likely) pathogenic	1 lab	a84b1f4772
2:179427970 TTN T>G	2	179427970	179427970	T	G	TTN	c.82889A>C	NM_001267550.2	NP_001254479.2:p.(Gln27630Pro)	NC_000002.11:g.179427970T>G	VUS	1 lab	a84bb96905
8:30933786 WRN A>G	8	30933786	30933786	A	G	WRN	c.822A>G	NM_000553.6	NP_000544.2:p.(Lys274=)	NC_000008.10:g.30933786A>G	VUS	1 lab	a84e579664
1:237060945 MTR CTT>C	1	237060945	237060960	CTT	C	MTR	c.*15_*16del	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237060959_237060960del	(Likely) benign	1 lab	a8508a7ecb
19:13323003 CACNA1A C>T	19	13323003	13323003	C	T	CACNA1A	c.6235G>A	NM_023035.3	NP_075461.2:p.(Asp2079Asn)	NC_000019.9:g.13323003C>T	VUS	1 lab	a85097f912
1:12062127 MFN2 T>C	1	12062127	12062127	T	C	MFN2	c.1127T>C	NM_014874.4	NP_055689.1:p.(Met376Thr)	NC_000001.10:g.12062127T>C	(Likely) pathogenic	1 lab	a8609a781e
2:21252675 APOB A>G	2	21252675	21252675	A	G	APOB	c.1471-18T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252675A>G	(Likely) benign	1 lab	a861532733
17:1680533 SERPINF1 C>T	17	1680533	1680533	C	T	SERPINF1	c.1050C>T	NM_002615.7	NP_002606.3:p.(Pro350=)	NC_000017.10:g.1680533C>T	(Likely) benign	1 lab	a86591b106
2:179424472 TTN C>T	2	179424472	179424472	C	T	TTN	c.86387G>A	NM_001267550.2	NP_001254479.2:p.(Arg28796His)	NC_000002.11:g.179424472C>T	VUS	1 lab	a865e213b9
17:59926493 BRIP1 C>T	17	59926493	59926493	C	T	BRIP1	c.504G>A	NM_032043.3	NP_114432.2:p.(Gln168=)	NC_000017.10:g.59926493C>T	(Likely) benign	1 lab	a86733c89f
16:1005102 LMF1 GCA>G	16	1005102	1005118	GCA	G	LMF1	c.-361-438_-361-437del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005117_1005118del	(Likely) benign	1 lab	a86c6904fa
2:238018104 MISSING T>Alt too long to show for this DUP	2	238018104	238530751	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.238018106_238530751dup	VUS	1 lab	a870db8e6e
16:15520031 MISSING A>Alt too long to show for this DUP	16	15520031	16388245	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15520034_16388245dup	(Likely) pathogenic	1 lab	a871b5c497
19:17986859 SLC5A5 C>T	19	17986859	17986859	C	T	SLC5A5	c.642C>T	NM_000453.3	NP_000444.1:p.(Gly214=)	NC_000019.9:g.17986859C>T	(Likely) benign	1 lab	a87ace418e
1:38079980 RSPO1 G>A	1	38079980	38079980	G	A	RSPO1	c.312C>T	NM_001038633.4	NP_001033722.1:p.(Ala104=)	NC_000001.10:g.38079980G>A	(Likely) benign	1 lab	a87be31842
16:23646768 PALB2 C>T	16	23646768	23646768	C	T	PALB2	c.1099G>A	NM_024675.4	NP_078951.2:p.(Glu367Lys)	NC_000016.9:g.23646768C>T	VUS	1 lab	a87c245d0b
12:50501871 GPD1 G>A	12	50501871	50501871	G	A	GPD1	c.911G>A	NM_005276.4	NP_005267.2:p.(Arg304Gln)	NC_000012.11:g.50501871G>A	VUS	1 lab	a8845b0947
17:27801068 TAOK1 Ref too long to show for this DEL>T	17	27801068	27822132	Ref too long to show for this DEL	T	TAOK1	c.205-1617_832-446del	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27801071_27822132del	(Likely) pathogenic	1 lab	a88b3039d9
15:35086979 ACTC1 C>G	15	35086979	35086979	C	G	ACTC1	c.31G>C	NM_005159.5	NP_005150.1:p.(Val11Leu)	NC_000015.9:g.35086979C>G	VUS	1 lab	a88d7ffcda
19:41919950 BCKDHA C>T	19	41919950	41919950	C	T	BCKDHA	c.376-4C>T	NM_000709.4	NP_000700.1:p.?	NC_000019.9:g.41919950C>T	(Likely) benign	1 lab	a88f25773c
1:216424250 USH2A A>T	1	216424250	216424250	A	T	USH2A	c.2162T>A	NM_206933.4	NP_996816.3:p.(Val721Asp)	NC_000001.10:g.216424250A>T	VUS	1 lab	a88f45a422
2:179446429 TTN A>G	2	179446429	179446429	A	G	TTN	c.66566T>C	NM_001267550.2	NP_001254479.2:p.(Ile22189Thr)	NC_000002.11:g.179446429A>G	VUS	1 lab	a893294365
7:72713307 MISSING Ref too long to show for this DEL>T	7	72713307	74154404	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72713308_74154404del	(Likely) pathogenic	1 lab	a89a47a12d
11:108115728 ATM G>A	11	108115728	108115728	G	A	ATM	c.876G>A	NM_000051.4	NP_000042.3:p.(Pro292=)	NC_000011.9:g.108115728G>A	(Likely) benign	1 lab	a89b3f3f1c
8:91029405 DECR1 Ref too long to show for this DEL>T	8	91029405	91033233	Ref too long to show for this DEL	T	DECR1	c.125_514del	NM_001359.2	NP_001350.1:p.(Lys42_Gly171del)	NC_000008.10:g.91029407_91033233del	VUS	1 lab	a89b78883e
16:50813729 CYLD G>A	16	50813729	50813729	G	A	CYLD	c.1292G>A	NM_015247.3	NP_056062.1:p.(Gly431Glu)	NC_000016.9:g.50813729G>A	(Likely) benign	1 lab	a8a214c297
19:9271752 ZNF317 C>T	19	9271752	9271752	C	T	ZNF317	c.1431C>T	NM_020933.5	NP_065984.3:p.(Ala477=)	NC_000019.9:g.9271752C>T	(Likely) benign	1 lab	a8a214fead
2:179594449 TTN C>G	2	179594449	179594449	C	G	TTN	c.18531G>C	NM_001267550.2	NP_001254479.2:p.(Val6177=)	NC_000002.11:g.179594449C>G	(Likely) benign	1 lab	a8a53e33b8
9:35720733 TLN1 G>A	9	35720733	35720733	G	A	TLN1	c.1206+76C>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35720733G>A	(Likely) benign	1 lab	a8a81e1032
X:152772275 BGN C>A	X	152772275	152772275	C	A	BGN	c.677-13C>A	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152772275C>A	(Likely) benign	1 lab	a8b75b6781
1:92754484 GLMN C>A	1	92754484	92754484	C	A	GLMN	c.619G>T	NM_053274.3	NP_444504.1:p.(Glu207Ter)	NC_000001.10:g.92754484C>A	(Likely) pathogenic	1 lab	a8ba03fad7
11:47368784 MYBPC3 G>C	11	47368784	47368784	G	C	MYBPC3	c.905+193C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368784G>C	(Likely) benign	1 lab	a8bfe73ab0
15:64454228 PPIB C>T	15	64454228	64454228	C	T	PPIB	c.249+12G>A	NM_000942.5	NP_000933.1:p.?	NC_000015.9:g.64454228C>T	(Likely) benign	1 lab	a8cbf0b3b9
8:100493822 VPS13B C>T	8	100493822	100493822	C	T	VPS13B	c.3667-5C>T	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100493822C>T	(Likely) benign	1 lab	a8cc785eae
3:100438797 TFG CT>C	3	100438797	100438809	CT	C	TFG	c.185-10del	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100438809del	(Likely) benign	1 lab	a8cf43c9fe
12:5021277 KCNA1 A>G	12	5021277	5021277	A	G	KCNA1	c.733A>G	NM_000217.3	NP_000208.2:p.(Ser245Gly)	NC_000012.11:g.5021277A>G	VUS	1 lab	a8d293cbb6
3:58110252 FLNB G>A	3	58110252	58110252	G	A	FLNB	c.3898+20G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58110252G>A	(Likely) benign	1 lab	a8d7deb53e
8:59404975 CYP7A1 A>T	8	59404975	59404975	A	T	CYP7A1	c.1152T>A	NM_000780.4	NP_000771.2:p.(Asp384Glu)	NC_000008.10:g.59404975A>T	(Likely) pathogenic	1 lab	a8da33a442
15:28096536 OCA2 C>T	15	28096536	28096536	C	T	OCA2	c.2330G>A	NM_000275.3	NP_000266.2:p.(Cys777Tyr)	NC_000015.9:g.28096536C>T	VUS	1 lab	a8dc6ff2bf
15:91303411 BLM T>C	15	91303411	91303411	T	C	BLM	c.1122T>C	NM_000057.4	NP_000048.1:p.(His374=)	NC_000015.9:g.91303411T>C	(Likely) benign	1 lab	a8de8d37b1
12:57422595 MYO1A T>C	12	57422595	57422595	T	C	MYO1A	c.3076A>G	NM_001256041.2	NP_001242970.1:p.(Ser1026Gly)	NC_000012.11:g.57422595T>C	(Likely) benign	1 lab	a8e22bd5a4
1:55528841 PCSK9 G>C	1	55528841	55528841	G	C	PCSK9	c.1864-201G>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55528841G>C	(Likely) benign	1 lab	a8fa0b7124
7:6022593 PMS2 A>G	7	6022593	6022593	A	G	PMS2	c.2036T>C	NM_000535.7	NP_000526.2:p.(Ile679Thr)	NC_000007.13:g.6022593A>G	VUS	1 lab	a8fc62aeda
X:53438824 SMC1A C>T	X	53438824	53438824	C	T	SMC1A	c.1075G>A	NM_001281463.1	NP_001268392.1:p.(Glu359Lys)	NC_000023.10:g.53438824C>T	(Likely) pathogenic	1 lab	a8ff7e222b
X:70443939 GJB1 T>C	X	70443939	70443939	T	C	GJB1	c.382T>C	NM_000166.6	NP_000157.1:p.(Ser128Pro)	NC_000023.10:g.70443939T>C	(Likely) pathogenic	1 lab	a901df6cc7
19:11098397 SMARCA4 G>A	19	11098397	11098397	G	A	SMARCA4	c.915G>A	NM_001128844.3	NP_001122316.1:p.(Pro305=)	NC_000019.9:g.11098397G>A	(Likely) benign	1 lab	a90730714d
7:143048992 CLCN1 C>T	7	143048992	143048992	C	T	CLCN1	c.2901C>T	NM_000083.3	NP_000074.3:p.(Ala967=)	NC_000007.13:g.143048992C>T	(Likely) benign	1 lab	a90882fb2e
19:36228146 KMT2B G>A	19	36228146	36228146	G	A	KMT2B	c.7532G>A	NM_014727.3	NP_055542.1:p.(Arg2511Gln)	NC_000019.9:g.36228146G>A	(Likely) pathogenic	1 lab	a908fb7448
1:55527201 PCSK9 A>G	1	55527201	55527201	A	G	PCSK9	c.1835A>G	NM_174936.4	NP_777596.2:p.(Glu612Gly)	NC_000001.10:g.55527201A>G	VUS	1 lab	a90985a2bc
11:1018329 MUC6 T>G	11	1018329	1018329	T	G	MUC6	c.4472A>C	NM_005961.3	NP_005952.2:p.(Lys1491Thr)	NC_000011.9:g.1018329T>G	(Likely) benign	1 lab	a9107c4fe6
2:44101394 ABCG8 A>G	2	44101394	44101394	A	G	ABCG8	c.1412-152A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101394A>G	(Likely) benign	1 lab	a913f50e53
9:5140395 MISSING Ref too long to show for this DEL>T	9	5140395	5203776	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.5140396_5203776del	VUS	1 lab	a914802cd9
16:28877522 SH2B1 C>T	16	28877522	28877522	C	T	SH2B1	c.107C>T	NM_001145795.2	NP_001139267.1:p.(Ala36Val)	NC_000016.9:g.28877522C>T	VUS	1 lab	a9166913ac
8:19811847 LPL CAG>C	8	19811847	19811855	CAG	C	LPL	c.765_766del	NM_000237.3	NP_000228.1:p.(Gly256ThrfsTer26)	NC_000008.10:g.19811854_19811855del	(Likely) pathogenic	1 lab	a918ca546f
6:7570839 DSP C>T	6	7570839	7570839	C	T	DSP	c.1701+43C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7570839C>T	(Likely) benign	1 lab	a91babc737
11:47358060 MYBPC3 A>ACT	11	47358060	47358061	A	ACT	MYBPC3	c.2603-499_2603-498insAG	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358060_47358061insCT	(Likely) benign	1 lab	a91c7600aa
6:79727281 PHIP C>T	6	79727281	79727281	C	T	PHIP	c.1014G>A	NM_017934.7	NP_060404.4:p.(Thr338=)	NC_000006.11:g.79727281C>T	(Likely) benign	1 lab	a91cb4069c
1:63067496 ANGPTL3 T>C	1	63067496	63067496	T	C	ANGPTL3	c.778T>C	NM_014495.4	NP_055310.1:p.(Tyr260His)	NC_000001.10:g.63067496T>C	VUS	1 lab	a91e5ebf2a
8:61735202 CHD7 G>A	8	61735202	61735202	G	A	CHD7	c.3098G>A	NM_017780.4	NP_060250.2:p.(Arg1033Lys)	NC_000008.10:g.61735202G>A	VUS	1 lab	a91ede322c
5:133948427 SAR1B A>G	5	133948427	133948427	A	G	SAR1B	c.198T>C	NM_001033503.3	NP_001028675.1:p.(Ile66=)	NC_000005.9:g.133948427A>G	(Likely) benign	1 lab	a926694e61
X:135956391 RBMX A>G	X	135956391	135956391	A	G	RBMX	c.1086T>C	NM_002139.4	NP_002130.2:p.(Asp362=)	NC_000023.10:g.135956391A>G	(Likely) benign	1 lab	a9274de5d3
15:63335887 TPM1 G>A	15	63335887	63335887	G	A	TPM1	c.115-339G>A	NM_001365776.1	NP_001352705.1:p.?	NC_000015.9:g.63335887G>A	(Likely) benign	1 lab	a927a9327d
3:32995579 MISSING A>Alt too long to show for this DUP	3	32995579	33038289	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.32995580_33038289dup	VUS	1 lab	a92813864f
12:57963916 KIF5A C>T	12	57963916	57963916	C	T	KIF5A	c.1264C>T	NM_004984.4	NP_004975.2:p.(Arg422Cys)	NC_000012.11:g.57963916C>T	(Likely) benign	1 lab	a9295518a7
1:236906512 ACTN2 A>G	1	236906512	236906512	A	G	ACTN2	c.1255+169A>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236906512A>G	(Likely) benign	1 lab	a92ce6fda3
12:125323962 SCARB1 A>C	12	125323962	125323962	A	C	SCARB1	c.-170T>G	NM_001367982.1	NP_001354911.1:p.?	NC_000012.11:g.125323962A>C	(Likely) benign	1 lab	a92d813c1b
11:116661392 APOA5 C>A	11	116661392	116661392	C	A	APOA5	c.553G>T	NM_052968.5	NP_443200.2:p.(Gly185Cys)	NC_000011.9:g.116661392C>A	(Likely) pathogenic	1 lab	a92f1921d8
8:94777789 TMEM67 T>C	8	94777789	94777789	T	C	TMEM67	c.577-11T>C	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94777789T>C	(Likely) benign	1 lab	a93217a9e2
7:157155903 DNAJB6 T>C	7	157155903	157155903	T	C	DNAJB6	c.114T>C	NM_058246.4	NP_490647.1:p.(Asn38=)	NC_000007.13:g.157155903T>C	(Likely) benign	1 lab	a9340fd2bf
19:11212902 LDLR CA>C	19	11212902	11212918	CA	C	LDLR	c.191-422del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11212918del	(Likely) benign	1 lab	a936cb74ec
12:22001078 ABCC9 A>T	12	22001078	22001078	A	T	ABCC9	c.2866+6T>A	NM_005691.4	NP_005682.2:p.?	NC_000012.11:g.22001078A>T	(Likely) benign	1 lab	a938bebbfa
1:25880261 LDLRAP1 CAA>C	1	25880261	25880280	CAA	C	LDLRAP1	c.89-134_89-133del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880279_25880280del	(Likely) benign	1 lab	a93b6223cf
X:153008983 ABCD1 G>T	X	153008983	153008983	G	T	ABCD1	c.2032G>T	NM_000033.4	NP_000024.2:p.(Gly678Cys)	NC_000023.10:g.153008983G>T	VUS	1 lab	a93f70888a
16:57996462 CNGB1 G>A	16	57996462	57996462	G	A	CNGB1	c.458+7C>T	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57996462G>A	(Likely) benign	1 lab	a9834d097e
1:55521749 PCSK9 C>A	1	55521749	55521749	C	A	PCSK9	c.883C>A	NM_174936.4	NP_777596.2:p.(Arg295Ser)	NC_000001.10:g.55521749C>A	(Likely) pathogenic	1 lab	a961558454
1:203741266 LAX1 G>A	1	203741266	203741266	G	A	LAX1	c.381G>A	NM_017773.4	NP_060243.2:p.(Pro127=)	NC_000001.10:g.203741266G>A	(Likely) benign	1 lab	a944923c71
17:6381897 PITPNM3 C>T	17	6381897	6381897	C	T	PITPNM3	c.747G>A	NM_031220.4	NP_112497.2:p.(Lys249=)	NC_000017.10:g.6381897C>T	(Likely) benign	1 lab	a945e3b598
2:189876456 COL3A1 G>A	2	189876456	189876456	G	A	COL3A1	c.4357G>A	NM_000090.4	NP_000081.2:p.(Asp1453Asn)	NC_000002.11:g.189876456G>A	VUS	1 lab	a949dad06e
11:31824367 PAX6 T>A	11	31824367	31824367	T	A	PAX6	c.19G>T	NM_000280.5	NP_000271.1:p.(Gly7Ter)	NC_000011.9:g.31824367T>A	VUS	1 lab	a94a696b63
8:144296889 GPIHBP1 G>A	8	144296889	144296889	G	A	GPIHBP1	c.183G>A	NM_178172.6	NP_835466.2:p.(Val61=)	NC_000008.10:g.144296889G>A	(Likely) benign	1 lab	a94e3754c2
6:66094270 EYS ATTAC>A	6	66094270	66094280	ATTAC	A	EYS	c.1299+5_1299+8del	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.66094277_66094280del	(Likely) pathogenic	1 lab	a94e88389a
7:82072762 CACNA2D1 C>G	7	82072762	82072762	C	G	CACNA2D1	c.14G>C	NM_000722.4	NP_000713.2:p.(Cys5Ser)	NC_000007.13:g.82072762C>G	(Likely) benign	1 lab	a9508410bd
2:44102280 ABCG8 T>C	2	44102280	44102280	T	C	ABCG8	c.1489-5T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102280T>C	(Likely) benign	1 lab	a952800b4e
X:70444179 GJB1 G>A	X	70444179	70444179	G	A	GJB1	c.622G>A	NM_000166.6	NP_000157.1:p.(Glu208Lys)	NC_000023.10:g.70444179G>A	(Likely) pathogenic	1 lab	a953e48f24
15:98319530 MISSING Ref too long to show for this DEL>C	15	98319530	102402428	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.98319531_102402428del	(Likely) pathogenic	1 lab	a957845980
5:140572678 PCDHB10 G>A	5	140572678	140572678	G	A	PCDHB10	c.553G>A	NM_018930.4	NP_061753.1:p.(Gly185Ser)	NC_000005.9:g.140572678G>A	(Likely) benign	1 lab	a95a9496ed
4:114163287 ANK2 T>C	4	114163287	114163287	T	C	ANK2	c.813T>C	NM_001148.6	NP_001139.3:p.(His271=)	NC_000004.11:g.114163287T>C	(Likely) benign	1 lab	a95dcdc9da
3:30732981 TGFBR2 C>T	3	30732981	30732981	C	T	TGFBR2	c.1669C>T	NM_001024847.2	NP_001020018.1:p.(Gln557Ter)	NC_000003.11:g.30732981C>T	(Likely) pathogenic	1 lab	a95e2957c5
8:133925388 TG C>T	8	133925388	133925388	C	T	TG	c.4256C>T	NM_003235.5	NP_003226.4:p.(Ala1419Val)	NC_000008.10:g.133925388C>T	VUS	1 lab	a963978b47
5:60628249 ZSWIM6 CGCG>C	5	60628249	60628267	CGCG	C	ZSWIM6	c.166_168del	NM_020928.2	NP_065979.1:p.(Ala56del)	NC_000005.9:g.60628265_60628267del	(Likely) benign	1 lab	a966369443
11:6644600 DCHS1 C>T	11	6644600	6644600	C	T	DCHS1	c.8307G>A	NM_003737.4	NP_003728.1:p.(Ala2769=)	NC_000011.9:g.6644600C>T	(Likely) benign	1 lab	a96c832b15
19:8212263 FBN3 G>A	19	8212263	8212263	G	A	FBN3	c.102C>T	NM_032447.5	NP_115823.3:p.(Asp34=)	NC_000019.9:g.8212263G>A	(Likely) benign	1 lab	a96e7230df
9:137713943 COL5A1 G>T	9	137713943	137713943	G	T	COL5A1	c.4555G>T	NM_000093.5	NP_000084.3:p.(Gly1519Cys)	NC_000009.11:g.137713943G>T	(Likely) pathogenic	1 lab	a97218a660
16:1004152 LMF1 A>G	16	1004152	1004152	A	G	LMF1	c.-52+205T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004152A>G	(Likely) benign	1 lab	a9758bdc1d
1:158627291 SPTA1 ATAGT>A	1	158627291	158627299	ATAGT	A	SPTA1	c.2777_2780del	NM_003126.4	NP_003117.2:p.(Asn926MetfsTer12)	NC_000001.10:g.158627296_158627299del	(Likely) pathogenic	1 lab	a9781137b0
1:3342694 PRDM16 A>G	1	3342694	3342694	A	G	PRDM16	c.3189A>G	NM_022114.4	NP_071397.3:p.(Ala1063=)	NC_000001.10:g.3342694A>G	(Likely) benign	1 lab	a97a02a19a
10:53921637 PRKG1 T>C	10	53921637	53921637	T	C	PRKG1	c.957-12T>C	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53921637T>C	(Likely) benign	1 lab	a97b05d4ee
X:150876139 MISSING T>Alt too long to show for this DUP	X	150876139	151144604	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.150876142_151144604dup	VUS	1 lab	a97dcaea6b
6:16143364 MYLIP G>A	6	16143364	16143364	G	A	MYLIP	c.578G>A	NM_013262.4	NP_037394.2:p.(Arg193Gln)	NC_000006.11:g.16143364G>A	VUS	1 lab	a982d9808c
1:112323335 KCND3 G>A	1	112323335	112323335	G	A	KCND3	c.1348C>T	NM_004980.5	NP_004971.2:p.(Leu450Phe)	NC_000001.10:g.112323335G>A	VUS	1 lab	a98459ad6d
2:234247410 SAG C>T	2	234247410	234247410	C	T	SAG	c.1022+11C>T	NM_000541.5	NP_000532.2:p.?	NC_000002.11:g.234247410C>T	(Likely) benign	1 lab	a987ad594a
X:21863022 MBTPS2 G>A	X	21863022	21863022	G	A	MBTPS2	c.225-267G>A	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21863022G>A	(Likely) benign	1 lab	a9bc77106d
1:78392570 NEXN G>A	1	78392570	78392570	G	A	NEXN	c.857G>A	NM_144573.4	NP_653174.3:p.(Arg286Gln)	NC_000001.10:g.78392570G>A	VUS	1 lab	a9881c6d06
9:140637827 EHMT1 C>T	9	140637827	140637827	C	T	EHMT1	c.828C>T	NM_024757.5	NP_079033.4:p.(Cys276=)	NC_000009.11:g.140637827C>T	(Likely) benign	1 lab	a98ff4a132
11:121391382 SORL1 C>CAAATGCAAATGAAGTCAG	11	121391382	121391383	C	CAAATGCAAATGAAGTCAG	SORL1	c.1228_1229insAAATGCAAATGAAGTCAG	NM_003105.6	NP_003096.2:p.(Pro410delinsGlnMetGlnMetLysSerAla)	NC_000011.9:g.121391382_121391383insAAATGCAAATGAAGTCAG	VUS	1 lab	a990708d8e
16:67976672 LCAT G>T	16	67976672	67976672	G	T	LCAT	c.428-3C>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976672G>T	(Likely) benign	1 lab	a9912cf9a9
19:45411963 APOE G>GCGGCGAGGTGCAGGCCATGCT	19	45411963	45411988	G	GCGGCGAGGTGCAGGCCATGCT	APOE	c.493_513dup	NM_001302688.2	NP_001289617.1:p.(Glu165_Gly171dup)	NC_000019.9:g.45411968_45411988dup	(Likely) pathogenic	1 lab	a9915b6a24
7:100647376 MUC12 C>T	7	100647376	100647376	C	T	MUC12	c.13532C>T	NM_001164462.1	NP_001157934.1:p.(Thr4511Ile)	NC_000007.13:g.100647376C>T	(Likely) benign	1 lab	a9936b7cfc
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTT	8	100844569	100844594	A	ATTTTTTTTTTTTTTTT	VPS13B	c.9406-18_9406-3dup	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844579_100844594dup	(Likely) benign	1 lab	a994a9ace3
19:15302790 NOTCH3 G>A	19	15302790	15302790	G	A	NOTCH3	c.660C>T	NM_000435.3	NP_000426.2:p.(Tyr220=)	NC_000019.9:g.15302790G>A	(Likely) benign	1 lab	a99eb22443
2:21266369 APOB T>C	2	21266369	21266369	T	C	APOB	c.121+16A>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266369T>C	(Likely) benign	1 lab	a9a61fa8e2
21:27086587 JAM2 G>A	21	27086587	27086587	G	A	JAM2	c.909G>A	NM_001270408.2	NP_001257337.1:p.(Ala303=)	NC_000021.8:g.27086587G>A	(Likely) benign	1 lab	a9aa810b7d
8:1905132 ARHGEF10 G>A	8	1905132	1905132	G	A	ARHGEF10	c.3810G>A	NM_001308153.2	NP_001295082.1:p.(Ser1270=)	NC_000008.10:g.1905132G>A	(Likely) benign	1 lab	a9b1bee117
8:144297123 GPIHBP1 C>T	8	144297123	144297123	C	T	GPIHBP1	c.296-11C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297123C>T	(Likely) benign	1 lab	a9b7310ba2
9:107589567 ABCA1 C>T	9	107589567	107589567	C	T	ABCA1	c.2116-117G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589567C>T	(Likely) benign	1 lab	a9c0bc604b
4:52903470 MISSING T>Alt too long to show for this DUP	4	52903470	53205388	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.52903471_53205388dup	VUS	1 lab	a9c5b8d2ec
16:15457642 NPIPA5 G>C	16	15457642	15457642	G	C	NPIPA5	c.927C>G	NM_001277325.2	NP_001264254.1:p.(Ala309=)	NC_000016.9:g.15457642G>C	(Likely) benign	1 lab	a9c5b97149
2:179593453 TTN A>T	2	179593453	179593453	A	T	TTN	c.19200T>A	NM_001267550.2	NP_001254479.2:p.(Asp6400Glu)	NC_000002.11:g.179593453A>T	VUS	1 lab	a9c6c18ddc
1:43212957 P3H1 G>A	1	43212957	43212957	G	A	P3H1	c.2041C>T	NM_022356.4	NP_071751.3:p.(Arg681Ter)	NC_000001.10:g.43212957G>A	(Likely) pathogenic	1 lab	a9ced648b1
20:57484198 GNAS G>A	20	57484198	57484198	G	A	GNAS	c.*392-19G>A	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57484198G>A	(Likely) benign	1 lab	a9da385f11
16:918938 LMF1 T>C	16	918938	918938	T	C	LMF1	c.1130+6A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918938T>C	(Likely) benign	1 lab	a9db8583e7
10:75863691 VCL A>C	10	75863691	75863691	A	C	VCL	c.2131+5A>C	NM_003373.4	NP_003364.1:p.?	NC_000010.10:g.75863691A>C	(Likely) benign	1 lab	a9dbdec250
16:920814 LMF1 C>A	16	920814	920814	C	A	LMF1	c.1147G>T	NM_022773.4	NP_073610.2:p.(Val383Phe)	NC_000016.9:g.920814C>A	VUS	1 lab	a9dc234933
16:28493535 CLN3 G>A	16	28493535	28493535	G	A	CLN3	c.801-16C>T	NM_001286110.2	NP_001273039.1:p.?	NC_000016.9:g.28493535G>A	(Likely) benign	1 lab	a9e2caab29
11:118007778 SCN4B G>A	11	118007778	118007778	G	A	SCN4B	c.651C>T	NM_174934.4	NP_777594.1:p.(Gly217=)	NC_000011.9:g.118007778G>A	(Likely) benign	1 lab	a9e3ca70fd
10:85961584 CDHR1 G>A	10	85961584	85961584	G	A	CDHR1	c.547G>A	NM_033100.4	NP_149091.1:p.(Val183Met)	NC_000010.10:g.85961584G>A	(Likely) benign	1 lab	a9e4d06f06
2:179532003 TTN AG>A	2	179532003	179532005	AG	A	TTN	c.35756del	NM_001267550.2	NP_001254479.2:p.(Pro11919LeufsTer51)	NC_000002.11:g.179532005del	VUS	1 lab	a9eaf1e6d9
4:74285239 ALB C>T	4	74285239	74285239	C	T	ALB	c.1668C>T	NM_000477.7	NP_000468.1:p.(Leu556=)	NC_000004.11:g.74285239C>T	(Likely) benign	1 lab	aaa0d821cb
2:179500022 TTN A>C	2	179500022	179500022	A	C	TTN	c.41894T>G	NM_001267550.2	NP_001254479.2:p.(Val13965Gly)	NC_000002.11:g.179500022A>C	VUS	1 lab	a9efbaae57
16:67977987 LCAT G>A	16	67977987	67977987	G	A	LCAT	c.18C>T	NM_000229.2	NP_000220.1:p.(Ser6=)	NC_000016.9:g.67977987G>A	VUS	1 lab	a9f16e674a
1:78399025 NEXN C>A	1	78399025	78399025	C	A	NEXN	c.1112C>A	NM_144573.4	NP_653174.3:p.(Pro371Gln)	NC_000001.10:g.78399025C>A	VUS	1 lab	a9f6d90c2d
13:32913433 BRCA2 A>G	13	32913433	32913433	A	G	BRCA2	c.4941A>G	NM_000059.4	NP_000050.3:p.(Thr1647=)	NC_000013.10:g.32913433A>G	(Likely) benign	1 lab	a9f7c00e05
14:21687391 MISSING C>Alt too long to show for this DUP	14	21687391	21876497	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.21687393_21876497dup	VUS	1 lab	a9fd647e0c
1:216465680 USH2A C>CT	1	216465680	216465682	C	CT	USH2A	c.1676dup	NM_206933.4	NP_996816.3:p.(Pro560AlafsTer6)	NC_000001.10:g.216465682dup	(Likely) pathogenic	1 lab	a9fdbeaa14
14:105173786 INF2 C>T	14	105173786	105173786	C	T	INF2	c.1182C>T	NM_022489.4	NP_071934.3:p.(Cys394=)	NC_000014.8:g.105173786C>T	(Likely) benign	1 lab	aa00cef24a
17:10426938 MYH2 C>T	17	10426938	10426938	C	T	MYH2	c.5347G>A	NM_001100112.2	NP_001093582.1:p.(Ala1783Thr)	NC_000017.10:g.10426938C>T	VUS	1 lab	aa04e886d1
15:48725187 FBN1 T>C	15	48725187	48725187	T	C	FBN1	c.6617-2A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48725187T>C	(Likely) pathogenic	1 lab	aa06ac5785
5:161322695 GABRA1 A>G	5	161322695	161322695	A	G	GABRA1	c.880A>G	NM_000806.5	NP_000797.2:p.(Thr294Ala)	NC_000005.9:g.161322695A>G	VUS	1 lab	aa0e6eb23a
12:125347764 SCARB1 T>TCA	12	125347764	125347771	T	TCA	SCARB1	c.126+375_126+376dup	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125347770_125347771dup	(Likely) benign	1 lab	aa1033ef47
4:126371317 FAT4 C>A	4	126371317	126371317	C	A	FAT4	c.9152C>A	NM_001291303.3	NP_001278232.1:p.(Ser3051Tyr)	NC_000004.11:g.126371317C>A	VUS	1 lab	aa1942ff87
19:13482587 CACNA1A C>T	19	13482587	13482587	C	T	CACNA1A	c.546G>A	NM_001127221.2	NP_001120693.1:p.(Leu182=)	NC_000019.9:g.13482587C>T	(Likely) benign	1 lab	aa1a4b7fdf
2:179432130 TTN C>A	2	179432130	179432130	C	A	TTN	c.71025G>T	NM_133378.4	NP_596869.4:p.(Lys23675Asn)	NC_000002.11:g.179432130C>A	VUS	1 lab	aa1d35581a
2:44102235 ABCG8 T>C	2	44102235	44102235	T	C	ABCG8	c.1489-50T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102235T>C	(Likely) benign	1 lab	aa1e4b10d0
19:11200086 LDLR C>G	19	11200086	11200086	C	G	LDLR				NC_000019.9:g.11200086C>G	(Likely) pathogenic	1 lab	aa2542098d
9:107665934 ABCA1 C>T	9	107665934	107665934	C	T	ABCA1	c.27G>A	NM_005502.4	NP_005493.2:p.(Leu9=)	NC_000009.11:g.107665934C>T	(Likely) benign	1 lab	aa298d275e
3:2589278 CNTN4 Ref too long to show for this DEL>A	3	2589278	2636779	Ref too long to show for this DEL	A	CNTN4	c.-88-23821_55+23537del	NM_175607.3	NP_783200.1:p.?	NC_000003.11:g.2589279_2636779del	(Likely) pathogenic	1 lab	aa29c1169f
5:58295380 PDE4D G>GTA	5	58295380	58295395	G	GTA	PDE4D	c.-19_-18dup	NM_001197223.2	NP_001184152.1:p.?	NC_000005.9:g.58295394_58295395dup	(Likely) benign	1 lab	aa2c1e48ac
1:11217230 MTOR C>T	1	11217230	11217230	C	T	MTOR	c.4448G>A	NM_001386500.1	NP_001373429.1:p.(Cys1483Tyr)	NC_000001.10:g.11217230C>T	(Likely) pathogenic	1 lab	aa2ff07033
7:128485938 FLNC G>A	7	128485938	128485938	G	A	FLNC	c.3791-106G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128485938G>A	(Likely) benign	1 lab	aa34a076a9
9:27158010 TEK G>A	9	27158010	27158010	G	A	TEK	c.234G>A	NM_000459.5	NP_000450.3:p.(Val78=)	NC_000009.11:g.27158010G>A	(Likely) benign	1 lab	aa360b39c7
1:190423556 MISSING Ref too long to show for this DEL>T	1	190423556	190572122	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.190423557_190572122del	VUS	1 lab	aa3af39d8c
2:44049929 ABCG5 C>T	2	44049929	44049929	C	T	ABCG5	c.1463+7G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049929C>T	(Likely) benign	1 lab	aa3e49df0d
17:72914191 USH1G A>T	17	72914191	72914191	A	T	USH1G	c.1383-20T>A	NM_173477.5	NP_775748.2:p.?	NC_000017.10:g.72914191A>T	(Likely) benign	1 lab	aa42c81278
7:100850048 PLOD3 A>G	7	100850048	100850048	A	G	PLOD3	c.2061+12T>C	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100850048A>G	(Likely) benign	1 lab	aa4494b473
11:65636036 EFEMP2 A>G	11	65636036	65636036	A	G	EFEMP2	c.792T>C	NM_016938.5	NP_058634.4:p.(Arg264=)	NC_000011.9:g.65636036A>G	(Likely) benign	1 lab	aa461634d7
10:90701595 ACTA2 A>G	10	90701595	90701595	A	G	ACTA2	c.401T>C	NM_001141945.2	NP_001135417.1:p.(Met134Thr)	NC_000010.10:g.90701595A>G	VUS	1 lab	aa48366728
8:68030501 CSPP1 A>G	8	68030501	68030501	A	G	CSPP1	c.1515A>G	NM_001382391.1	NP_001369320.1:p.(Pro505=)	NC_000008.10:g.68030501A>G	(Likely) benign	1 lab	aa4c81112c
5:147785802 FBXO38 AT>A	5	147785802	147785815	AT	A	FBXO38	c.731-5del	NM_030793.5	NP_110420.3:p.?	NC_000005.9:g.147785815del	(Likely) benign	1 lab	aa50a4794e
5:90445869 ADGRV1 A>T	5	90445869	90445869	A	T	ADGRV1	c.18455A>T	NM_032119.4	NP_115495.3:p.(Tyr6152Phe)	NC_000005.9:g.90445869A>T	(Likely) benign	1 lab	aa551a4c0d
11:4406617 TRIM21 C>T	11	4406617	4406617	C	T	TRIM21	c.1326G>A	NM_003141.4	NP_003132.2:p.(Leu442=)	NC_000011.9:g.4406617C>T	(Likely) benign	1 lab	aa586da688
11:68676100 IGHMBP2 G>A	11	68676100	68676100	G	A	IGHMBP2	c.547+1G>A	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68676100G>A	(Likely) pathogenic	1 lab	aa597d87cb
12:32974246 PKP2 A>C	12	32974246	32974246	A	C	PKP2	c.2145+44T>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32974246A>C	(Likely) benign	1 lab	aa5b7f75cd
17:7094119 DLG4 C>CA	17	7094119	7094120	C	CA	DLG4	c.2082dup	NM_001321075.3	NP_001308004.1:p.(Asp695Ter)	NC_000017.10:g.7094120dup	(Likely) pathogenic	1 lab	aa5e842806
19:11221373 LDLR G>A	19	11221373	11221373	G	A	LDLR	c.986G>A	NM_000527.5	NP_000518.1:p.(Cys329Tyr)	NC_000019.9:g.11221373G>A	(Likely) pathogenic	1 lab	aa60fe486f
1:156106934 LMNA A>G	1	156106934	156106934	A	G	LMNA	c.1519A>G	NM_170707.4	NP_733821.1:p.(Ser507Gly)	NC_000001.10:g.156106934A>G	VUS	1 lab	aa6171eb54
20:25275618 ABHD12 C>T	20	25275618	25275618	C	T	ABHD12	c.1206G>A	NM_015600.5	NP_056415.1:p.(Glu402=)	NC_000020.10:g.25275618C>T	(Likely) benign	1 lab	aa640eaf0b
18:34191935 FHOD3 C>T	18	34191935	34191935	C	T	FHOD3	c.834C>T	NM_001281740.3	NP_001268669.1:p.(Asp278=)	NC_000018.9:g.34191935C>T	(Likely) benign	1 lab	aa6768aed1
11:47359503 MYBPC3 CTTTT>C	11	47359503	47359522	CTTTT	C	MYBPC3	c.2309-162_2309-159del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359519_47359522del	(Likely) benign	1 lab	aa6c3bae4d
7:92129161 PEX1 C>CA	7	92129161	92129173	C	CA	PEX1	c.1960-10dup	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92129173dup	(Likely) benign	1 lab	aa73096f5d
9:2717871 KCNV2 C>T	9	2717871	2717871	C	T	KCNV2	c.132C>T	NM_133497.4	NP_598004.1:p.(His44=)	NC_000009.11:g.2717871C>T	(Likely) benign	1 lab	aa7387850a
7:72633487 MISSING Ref too long to show for this DEL>C	7	72633487	72732659	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.72633488_72732659del	VUS	1 lab	aa73fedcd1
1:51400686 MISSING T>Alt too long to show for this DUP	1	51400686	51439140	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.51400687_51439140dup	VUS	1 lab	aa77a22444
22:50657112 TUBGCP6 C>T	22	50657112	50657112	C	T	TUBGCP6	c.4821+20G>A	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50657112C>T	(Likely) benign	1 lab	aa7ba7f8f2
10:46114119 MISSING Ref too long to show for this DEL>G	10	46114119	46215431	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.46114121_46215431del	VUS	1 lab	aa86f3bb36
1:74818949 TNNI3K G>A	1	74818949	74818949	G	A	TNNI3K	c.933-1G>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74818949G>A	VUS	1 lab	aa8beb4cc4
10:101595950 ABCC2 A>T	10	101595950	101595950	A	T	ABCC2	c.3517A>T	NM_000392.5	NP_000383.2:p.(Ile1173Phe)	NC_000010.10:g.101595950A>T	(Likely) pathogenic	1 lab	aa8ca3484a
7:122034297 MISSING Ref too long to show for this DEL>A	7	122034297	123357471	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.122034298_123357471del	VUS	1 lab	aa8d773588
11:1016947 MUC6 C>T	11	1016947	1016947	C	T	MUC6	c.5854G>A	NM_005961.3	NP_005952.2:p.(Ala1952Thr)	NC_000011.9:g.1016947C>T	(Likely) benign	1 lab	aa9425e01c
16:88783521 PIEZO1 T>C	16	88783521	88783521	T	C	PIEZO1	c.6570A>G	NM_001142864.4	NP_001136336.2:p.(Pro2190=)	NC_000016.9:g.88783521T>C	(Likely) benign	1 lab	aa9a191986
9:107560747 ABCA1 T>C	9	107560747	107560747	T	C	ABCA1	c.5076A>G	NM_005502.4	NP_005493.2:p.(Gly1692=)	NC_000009.11:g.107560747T>C	(Likely) benign	1 lab	aa9e3e646e
2:21235042 APOB G>A	2	21235042	21235042	G	A	APOB	c.4698C>T	NM_000384.3	NP_000375.3:p.(Tyr1566=)	NC_000002.11:g.21235042G>A	(Likely) benign	1 lab	aaa23a3909
2:73613311 ALMS1 C>T	2	73613311	73613311	C	T	ALMS1	c.318C>T	NM_015120.4	NP_055935.4:p.(Ser106=)	NC_000002.11:g.73613311C>T	(Likely) benign	1 lab	aaa5e2c886
9:107665751 ABCA1 C>T	9	107665751	107665751	C	T	ABCA1	c.66+144G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665751C>T	(Likely) benign	1 lab	aaa6599c32
5:95746355 PCSK1 T>G	5	95746355	95746355	T	G	PCSK1	c.1095+123A>C	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95746355T>G	(Likely) benign	1 lab	aaa88e87eb
2:21260814 APOB C>T	2	21260814	21260814	C	T	APOB	c.537+16G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260814C>T	(Likely) benign	1 lab	aaa9d0a706
10:103825485 HPS6 C>T	10	103825485	103825485	C	T	HPS6	c.254C>T	NM_024747.6	NP_079023.2:p.(Pro85Leu)	NC_000010.10:g.103825485C>T	VUS	1 lab	aaaab5ed8c
15:100589154 ADAMTS17 C>T	15	100589154	100589154	C	T	ADAMTS17	c.2499G>A	NM_139057.4	NP_620688.2:p.(Lys833=)	NC_000015.9:g.100589154C>T	(Likely) benign	1 lab	aaaabcfbab
15:65952653 SLC24A1 T>A	15	65952653	65952653	T	A	SLC24A1	c.3033T>A	NM_001301033.2	NP_001287962.1:p.(Ile1011=)	NC_000015.9:g.65952653T>A	(Likely) benign	1 lab	aaacae94da
16:70298949 AARS1 G>A	16	70298949	70298949	G	A	AARS1	c.1404C>T	NM_001605.3	NP_001596.2:p.(Tyr468=)	NC_000016.9:g.70298949G>A	(Likely) benign	1 lab	aaadaf4551
9:138656945 KCNT1 G>A	9	138656945	138656945	G	A	KCNT1	c.969G>A	NM_001272003.2	NP_001258932.1:p.(Ala323=)	NC_000009.11:g.138656945G>A	(Likely) benign	1 lab	aaafa8cbeb
16:67976409 LCAT A>G	16	67976409	67976409	A	G	LCAT	c.605T>C	NM_000229.2	NP_000220.1:p.(Ile202Thr)	NC_000016.9:g.67976409A>G	(Likely) pathogenic	1 lab	aab1a63709
6:56482881 DST T>C	6	56482881	56482881	T	C	DST	c.5951A>G	NM_001723.7	NP_001714.1:p.(Lys1984Arg)	NC_000006.11:g.56482881T>C	VUS	1 lab	aab457cf16
7:128040533 IMPDH1 C>T	7	128040533	128040533	C	T	IMPDH1	c.640G>A	NM_000883.4	NP_000874.2:p.(Asp214Asn)	NC_000007.13:g.128040533C>T	VUS	1 lab	aab651db46
1:202698985 KDM5B G>C	1	202698985	202698985	G	C	KDM5B	c.4455C>G	NM_001314042.1	NP_001300971.1:p.(Phe1485Leu)	NC_000001.10:g.202698985G>C	(Likely) pathogenic	1 lab	aabc66b880
1:12064086 MFN2 C>T	1	12064086	12064086	C	T	MFN2	c.1198C>T	NM_014874.4	NP_055689.1:p.(Arg400Ter)	NC_000001.10:g.12064086C>T	(Likely) pathogenic	1 lab	aabde63613
4:154197234 TRIM2 T>G	4	154197234	154197234	T	G	TRIM2	c.324T>G	NM_001130067.2	NP_001123539.1:p.(Thr108=)	NC_000004.11:g.154197234T>G	(Likely) benign	1 lab	aac6e68ac7
8:133913658 TG A>G	8	133913658	133913658	A	G	TG	c.3494A>G	NM_003235.5	NP_003226.4:p.(Tyr1165Cys)	NC_000008.10:g.133913658A>G	(Likely) benign	1 lab	aacfadde02
8:59409220 CYP7A1 C>A	8	59409220	59409220	C	A	CYP7A1	c.851G>T	NM_000780.4	NP_000771.2:p.(Trp284Leu)	NC_000008.10:g.59409220C>A	VUS	1 lab	aad07e0dd7
X:149840021 MTM1 C>T	X	149840021	149840021	C	T	MTM1	c.1765C>T	NM_000252.3	NP_000243.1:p.(Pro589Ser)	NC_000023.10:g.149840021C>T	VUS	1 lab	aad0f6dcdb
16:57012174 CETP C>T	16	57012174	57012174	C	T	CETP	c.1146+7C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012174C>T	(Likely) benign	1 lab	aad1096f60
14:76420765 TTLL5 A>G	14	76420765	76420765	A	G	TTLL5	c.3824-2A>G	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76420765A>G	(Likely) benign	1 lab	aad1e28271
12:8804407 MFAP5 A>C	12	8804407	8804407	A	C	MFAP5	c.218-120T>G	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8804407A>C	(Likely) benign	1 lab	aad93f2822
19:45412060 APOE T>C	19	45412060	45412060	T	C	APOE	c.585T>C	NM_001302688.2	NP_001289617.1:p.(Asp195=)	NC_000019.9:g.45412060T>C	(Likely) benign	1 lab	aad9e705a1
7:150746207 ASIC3 C>T	7	150746207	150746207	C	T	ASIC3	c.235C>T	NM_020321.3	NP_064717.1:p.(Arg79Ter)	NC_000007.13:g.150746207C>T	VUS	1 lab	aada9a597c
4:91350441 CCSER1 Ref too long to show for this DEL>C	4	91350441	91400874	Ref too long to show for this DEL	C	CCSER1	c.1603+29162_1724+11369del	NM_001145065.2	NP_001138537.1:p.?	NC_000004.11:g.91350442_91400874del	VUS	1 lab	aadabb5d39
11:10019879 SBF2 G>A	11	10019879	10019879	G	A	SBF2	c.909C>T	NM_030962.4	NP_112224.1:p.(Pro303=)	NC_000011.9:g.10019879G>A	(Likely) benign	1 lab	aaddddcc4b
9:107550322 ABCA1 G>A	9	107550322	107550322	G	A	ABCA1	c.6083C>T	NM_005502.4	NP_005493.2:p.(Ala2028Val)	NC_000009.11:g.107550322G>A	VUS	1 lab	aade1cdcd6
9:111689654 ELP1 G>A	9	111689654	111689654	G	A	ELP1	c.383C>T	NM_003640.5	NP_003631.2:p.(Thr128Ile)	NC_000009.11:g.111689654G>A	VUS	1 lab	aae1781f95
19:43031514 CEACAM1 G>T	19	43031514	43031514	G	T	CEACAM1	c.103C>A	NM_001712.5	NP_001703.2:p.(Gln35Lys)	NC_000019.9:g.43031514G>T	(Likely) benign	1 lab	aae438aaad
19:7505169 ARHGEF18 G>A	19	7505169	7505169	G	A	ARHGEF18	c.181G>A	NM_001130955.2	NP_001124427.2:p.(Gly61Arg)	NC_000019.9:g.7505169G>A	VUS	1 lab	aae49a05cd
7:91729132 AKAP9 G>A	7	91729132	91729132	G	A	AKAP9	c.10845G>A	NM_005751.5	NP_005742.4:p.(Lys3615=)	NC_000007.13:g.91729132G>A	(Likely) benign	1 lab	aae577397e
3:32200524 GPD1L G>A	3	32200524	32200524	G	A	GPD1L	c.775G>A	NM_015141.4	NP_055956.1:p.(Gly259Arg)	NC_000003.11:g.32200524G>A	VUS	1 lab	ab181dcabd
5:13867945 DNAH5 GCT>G	5	13867945	13867949	GCT	G	DNAH5	c.3989_3990del	NM_001369.3	NP_001360.1:p.(Glu1330AlafsTer3)	NC_000005.9:g.13867948_13867949del	(Likely) pathogenic	1 lab	aaea10a960
X:41437658 CASK T>C	X	41437658	41437658	T	C	CASK	c.1438A>G	NM_003688.3	NP_003679.2:p.(Met480Val)	NC_000023.10:g.41437658T>C	VUS	1 lab	aaf0abb8bc
7:143417322 TCAF2 C>T	7	143417322	143417322	C	T	TCAF2	c.678C>T	NM_001130026.3	NP_001123498.2:p.(Leu226=)	NC_000007.13:g.143417322C>T	(Likely) benign	1 lab	aaf10540d5
3:58826247 CFAP20DC Ref too long to show for this DEL>T	3	58826247	58915982	Ref too long to show for this DEL	T	CFAP20DC	c.393+7392_1971+8510del	NM_001394063.1	NP_001380992.1:p.?	NC_000003.11:g.58826248_58915982del	VUS	1 lab	aaf5234bb2
9:79936505 VPS13A G>A	9	79936505	79936505	G	A	VPS13A	c.5673G>A	NM_033305.3	NP_150648.2:p.(Ser1891=)	NC_000009.11:g.79936505G>A	(Likely) benign	1 lab	aaf98e9f56
5:127731184 FBN2 A>G	5	127731184	127731184	A	G	FBN2	c.1079-217T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127731184A>G	(Likely) benign	1 lab	aafa218b0a
2:21250764 APOB G>A	2	21250764	21250764	G	A	APOB	c.2003C>T	NM_000384.3	NP_000375.3:p.(Pro668Leu)	NC_000002.11:g.21250764G>A	VUS	1 lab	aafdce9fb3
X:43542755 MAOA C>T	X	43542755	43542755	C	T	MAOA	c.-326-6C>T	NM_001270458.2	NP_001257387.1:p.?	NC_000023.10:g.43542755C>T	(Likely) benign	1 lab	aafe5e9a95
7:94057332 COL1A2 G>A	7	94057332	94057332	G	A	COL1A2	c.3526+135G>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94057332G>A	(Likely) benign	1 lab	ab014617dc
14:23867992 MYH6 C>G	14	23867992	23867992	C	G	MYH6	c.1836G>C	NM_002471.4	NP_002462.2:p.(Lys612Asn)	NC_000014.8:g.23867992C>G	VUS	1 lab	ab0bb4c051
21:47546415 COL6A2 A>G	21	47546415	47546415	A	G	COL6A2	c.2423-2A>G	NM_058175.3	NP_478055.2:p.?	NC_000021.8:g.47546415A>G	VUS	1 lab	ab0f1d2eab
12:21325660 SLCO1B1 A>G	12	21325660	21325660	A	G	SLCO1B1	c.161A>G	NM_006446.5	NP_006437.3:p.(His54Arg)	NC_000012.11:g.21325660A>G	(Likely) benign	1 lab	ab5c8bf086
2:99953801 MISSING Ref too long to show for this DEL>T	2	99953801	100017775	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.99953802_100017775del	VUS	1 lab	ab1381681a
9:18952551 MISSING A>Alt too long to show for this DUP	9	18952551	19535747	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.18952553_19535747dup	VUS	1 lab	ab14d2e110
16:57007282 CETP C>G	16	57007282	57007282	C	G	CETP	c.790C>G	NM_000078.3	NP_000069.2:p.(Leu264Val)	NC_000016.9:g.57007282C>G	(Likely) benign	1 lab	ab1818f400
1:180241053 LHX4 C>T	1	180241053	180241053	C	T	LHX4	c.690C>T	NM_033343.4	NP_203129.1:p.(Ser230=)	NC_000001.10:g.180241053C>T	(Likely) benign	1 lab	ab189f2ed8
3:184040178 EIF4G1 G>A	3	184040178	184040178	G	A	EIF4G1	c.1548G>A	NM_182917.4	NP_886553.3:p.(Arg516=)	NC_000003.11:g.184040178G>A	(Likely) benign	1 lab	ab1b1a89b6
X:47809305 MISSING C>Alt too long to show for this DUP	X	47809305	48050281	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47809307_48050281dup	VUS	1 lab	ab1f8e1b06
22:38119199 TRIOBP C>T	22	38119199	38119199	C	T	TRIOBP	c.636C>T	NM_001039141.3	NP_001034230.1:p.(Gly212=)	NC_000022.10:g.38119199C>T	(Likely) benign	1 lab	ab20dabeb8
10:57155697 MISSING Ref too long to show for this DEL>T	10	57155697	57659370	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.57155699_57659370del	(Likely) pathogenic	1 lab	ab21a24a95
3:78717343 ROBO1 C>T	3	78717343	78717343	C	T	ROBO1	c.1632G>A	NM_133631.4	NP_598334.2:p.(Ser544=)	NC_000003.11:g.78717343C>T	(Likely) benign	1 lab	ab258e8277
7:5139636 MISSING Ref too long to show for this DEL>G	7	5139636	6494203	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.5139638_6494203del	(Likely) pathogenic	1 lab	ab27efd513
10:3810884 MISSING Ref too long to show for this DEL>A	10	3810884	3830428	Ref too long to show for this DEL	A	MISSING				NC_000010.10:g.3810886_3830428del	VUS	1 lab	ab28f08a2a
2:219678831 CYP27A1 G>A	2	219678831	219678831	G	A	CYP27A1	c.1105G>A	NM_000784.4	NP_000775.1:p.(Val369Met)	NC_000002.11:g.219678831G>A	VUS	1 lab	ab2c4fc191
19:11237772 LDLR A>G	19	11237772	11237772	A	G	LDLR	c.2312-912A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11237772A>G	(Likely) benign	1 lab	ab30d4b3df
X:19377737 PDHA1 C>CCAAT	X	19377737	19377743	C	CCAAT	PDHA1	c.1256_1259dup	NM_001173454.2	NP_001166925.1:p.(Trp421SerfsTer6)	NC_000023.10:g.19377740_19377743dup	(Likely) pathogenic	1 lab	ab31ff9697
11:10580644 LYVE1 C>T	11	10580644	10580644	C	T	LYVE1	c.*14G>A	NM_006691.4	NP_006682.2:p.?	NC_000011.9:g.10580644C>T	(Likely) benign	1 lab	ab3785b136
1:25880499 LDLRAP1 G>A	1	25880499	25880499	G	A	LDLRAP1	c.175G>A	NM_015627.3	NP_056442.2:p.(Glu59Lys)	NC_000001.10:g.25880499G>A	VUS	1 lab	ab38725199
4:173670189 GALNTL6 T>Alt too long to show for this DUP	4	173670189	173929433	T	Alt too long to show for this DUP	GALNTL6	c.554-60322_1372-896dup	NM_001034845.3	NP_001030017.2:p.?	NC_000004.11:g.173670190_173929433dup	VUS	1 lab	ab3ad2ac38
9:140137447 TUBB4B G>A	9	140137447	140137447	G	A	TUBB4B	c.777G>A	NM_006088.6	NP_006079.1:p.(Pro259=)	NC_000009.11:g.140137447G>A	(Likely) benign	1 lab	ab3db42438
14:23858874 MYH6 C>T	14	23858874	23858874	C	T	MYH6	c.3787G>A	NM_002471.4	NP_002462.2:p.(Val1263Met)	NC_000014.8:g.23858874C>T	VUS	1 lab	ab3f1e4ec0
20:2644565 IDH3B G>T	20	2644565	2644565	G	T	IDH3B	c.117+6C>A	NM_006899.5	NP_008830.2:p.?	NC_000020.10:g.2644565G>T	(Likely) benign	1 lab	ab43c938a7
12:2788667 CACNA1C G>A	12	2788667	2788667	G	A	CACNA1C	c.5293G>A	NM_199460.4	NP_955630.3:p.(Ala1765Thr)	NC_000012.11:g.2788667G>A	(Likely) benign	1 lab	ab4489bfa8
9:34512197 DNAI1 G>A	9	34512197	34512197	G	A	DNAI1	c.1413+1G>A	NM_001281428.2	NP_001268357.1:p.?	NC_000009.11:g.34512197G>A	(Likely) pathogenic	1 lab	ab4ee445c3
17:48277144 COL1A1 C>A	17	48277144	48277144	C	A	COL1A1	c.268G>T	NM_000088.4	NP_000079.2:p.(Glu90Ter)	NC_000017.10:g.48277144C>A	(Likely) pathogenic	1 lab	ab53ebe44c
2:216226308 FN1 Ref too long to show for this DEL>T	2	216226308	216299557	Ref too long to show for this DEL	T	FN1	c.149-10_7403del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216226309_216299557del	VUS	1 lab	ab5586e2d4
22:41895765 ACO2 A>G	22	41895765	41895765	A	G	ACO2	c.72A>G	NM_001098.3	NP_001089.1:p.(Ser24=)	NC_000022.10:g.41895765A>G	(Likely) benign	1 lab	ab56450940
5:35663943 SPEF2 G>Alt too long to show for this DUP	5	35663943	35799147	G	Alt too long to show for this DUP	SPEF2	c.1168-3229_4831-923dup	NM_024867.4	NP_079143.3:p.?	NC_000005.9:g.35663945_35799147dup	(Likely) pathogenic	1 lab	ab5a44f67e
15:62176402 VPS13C G>A	15	62176402	62176402	G	A	VPS13C	c.9408C>T	NM_020821.3	NP_065872.1:p.(Ile3136=)	NC_000015.9:g.62176402G>A	(Likely) benign	1 lab	ab5ba012ea
3:123441475 MYLK C>T	3	123441475	123441475	C	T	MYLK	c.1652-348G>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123441475C>T	(Likely) benign	1 lab	ab5d5a6d75
9:134014665 NUP214 TAGA>T	9	134014665	134014668	TAGA	T	NUP214	c.1006-2_1006del	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134014666_134014668del	(Likely) benign	1 lab	ab61d73727
2:220501064 SLC4A3 C>T	2	220501064	220501064	C	T	SLC4A3	c.2313C>T	NM_201574.3	NP_963868.3:p.(Ile771=)	NC_000002.11:g.220501064C>T	(Likely) benign	1 lab	ab6206bb82
19:11227917 LDLR T>C	19	11227917	11227917	T	C	LDLR	c.1845+243T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227917T>C	(Likely) benign	1 lab	ab622ecd88
2:179596637 TTN C>A	2	179596637	179596637	C	A	TTN	c.16965G>T	NM_001267550.2	NP_001254479.2:p.(Met5655Ile)	NC_000002.11:g.179596637C>A	VUS	1 lab	ab6620943c
5:157164950 THG1L A>G	5	157164950	157164950	A	G	THG1L	c.683A>G	NM_017872.5	NP_060342.2:p.(Tyr228Cys)	NC_000005.9:g.157164950A>G	VUS	1 lab	ab6b680091
9:136219358 SURF1 G>A	9	136219358	136219358	G	A	SURF1	c.694C>T	NM_003172.4	NP_003163.1:p.(Leu232=)	NC_000009.11:g.136219358G>A	(Likely) benign	1 lab	ab73d5b4ca
2:179391875 TTN A>C	2	179391875	179391875	A	C	TTN	c.107840T>G	NM_001267550.2	NP_001254479.2:p.(Ile35947Ser)	NC_000002.11:g.179391875A>C	VUS	1 lab	ab797c96d1
11:46338143 CREB3L1 C>T	11	46338143	46338143	C	T	CREB3L1	c.1131+207C>T	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46338143C>T	(Likely) benign	1 lab	ab7c0d1936
7:128496275 FLNC G>A	7	128496275	128496275	G	A	FLNC	c.7252-297G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496275G>A	(Likely) benign	1 lab	ab7e04023c
X:27765399 DCAF8L2 AGAGGAGGAGGAGGAGGAG>A	X	27765399	27765446	AGAGGAGGAGGAGGAGGAG	A	DCAF8L2	c.417_434del	NM_001353448.2	NP_001340377.1:p.(Glu142_Glu147del)	NC_000023.10:g.27765429_27765446del	(Likely) benign	1 lab	ab7e86f7af
22:41548271 EP300 A>C	22	41548271	41548271	A	C	EP300	c.3059A>C	NM_001429.4	NP_001420.2:p.(Lys1020Thr)	NC_000022.10:g.41548271A>C	VUS	1 lab	ab82d61d59
7:128498156 FLNC C>T	7	128498156	128498156	C	T	FLNC	c.7875C>T	NM_001458.5	NP_001449.3:p.(Tyr2625=)	NC_000007.13:g.128498156C>T	(Likely) benign	1 lab	ab854561a2
10:64573173 EGR2 G>A	10	64573173	64573173	G	A	EGR2	c.1225C>T	NM_000399.5	NP_000390.2:p.(Arg409Trp)	NC_000010.10:g.64573173G>A	(Likely) pathogenic	1 lab	ab87a6b52c
17:10309990 MYH8 C>T	17	10309990	10309990	C	T	MYH8	c.2171+17G>A	NM_002472.3	NP_002463.2:p.?	NC_000017.10:g.10309990C>T	(Likely) benign	1 lab	ab8bd33fe6
18:29104485 DSG2 A>T	18	29104485	29104485	A	T	DSG2	c.765A>T	NM_001943.5	NP_001934.2:p.(Gln255His)	NC_000018.9:g.29104485A>T	VUS	1 lab	ac90248e19
16:70316567 AARS1 A>G	16	70316567	70316567	A	G	AARS1	c.100T>C	NM_001605.3	NP_001596.2:p.(Leu34=)	NC_000016.9:g.70316567A>G	(Likely) benign	1 lab	ab90aaa1f0
9:137716627 COL5A1 G>A	9	137716627	137716627	G	A	COL5A1	c.4880G>A	NM_000093.5	NP_000084.3:p.(Arg1627Gln)	NC_000009.11:g.137716627G>A	VUS	1 lab	ab9127924e
2:110971266 MISSING Ref too long to show for this DEL>C	2	110971266	112819636	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.110971269_112819636del	(Likely) pathogenic	1 lab	ab96dcffb2
18:47107818 LIPG G>A	18	47107818	47107818	G	A	LIPG	c.827G>A	NM_006033.4	NP_006024.1:p.(Arg276Gln)	NC_000018.9:g.47107818G>A	VUS	1 lab	ab97c9fa08
16:88501489 ZNF469 G>C	16	88501489	88501489	G	C	ZNF469	c.7611G>C	NM_001367624.2	NP_001354553.1:p.(Glu2537Asp)	NC_000016.9:g.88501489G>C	(Likely) benign	1 lab	ab9ccdaabb
11:6636151 TPP1 A>G	11	6636151	6636151	A	G	TPP1	c.1497T>C	NM_000391.4	NP_000382.3:p.(Pro499=)	NC_000011.9:g.6636151A>G	(Likely) benign	1 lab	ab9f337928
11:129825449 PRDM10 G>A	11	129825449	129825449	G	A	PRDM10	c.252C>T	NM_020228.3	NP_064613.2:p.(Pro84=)	NC_000011.9:g.129825449G>A	(Likely) benign	1 lab	aba1607979
12:32751500 FGD4 C>T	12	32751500	32751500	C	T	FGD4	c.670C>T	NM_139241.3	NP_640334.2:p.(Arg224Ter)	NC_000012.11:g.32751500C>T	(Likely) pathogenic	1 lab	aba90e535d
12:974361 WNK1 A>C	12	974361	974361	A	C	WNK1	c.2225A>C	NM_213655.5	NP_998820.3:p.(His742Pro)	NC_000012.11:g.974361A>C	(Likely) benign	1 lab	abb4e6680a
8:59404102 CYP7A1 G>A	8	59404102	59404102	G	A	CYP7A1	c.1447C>T	NM_000780.4	NP_000771.2:p.(Arg483Trp)	NC_000008.10:g.59404102G>A	(Likely) pathogenic	1 lab	abf152dd1c
17:10552947 MYH3 C>A	17	10552947	10552947	C	A	MYH3	c.589G>T	NM_002470.4	NP_002461.2:p.(Ala197Ser)	NC_000017.10:g.10552947C>A	VUS	1 lab	abbdca8825
9:34242094 UBAP1 T>A	9	34242094	34242094	T	A	UBAP1	c.1071T>A	NM_001171203.3	NP_001164674.1:p.(Asn357Lys)	NC_000009.11:g.34242094T>A	(Likely) benign	1 lab	abbf538dc1
12:53152323 MISSING Ref too long to show for this DEL>A	12	53152323	53164537	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.53152324_53164537del	VUS	1 lab	abc0cfb2e2
6:32010126 TNXB C>T	6	32010126	32010126	C	T	TNXB	c.12218G>A	NM_019105.8	NP_061978.6:p.(Arg4073His)	NC_000006.11:g.32010126C>T	VUS	1 lab	abc28566f0
3:123427758 MYLK G>A	3	123427758	123427758	G	A	MYLK	c.1943-16C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123427758G>A	(Likely) benign	1 lab	abc8a7e0fa
22:29130703 CHEK2 G>A	22	29130703	29130703	G	A	CHEK2	c.7C>T	NM_007194.4	NP_009125.1:p.(Arg3Trp)	NC_000022.10:g.29130703G>A	VUS	1 lab	abcfea6875
12:7045804 ATN1 T>C	12	7045804	7045804	T	C	ATN1	c.1374T>C	NM_001940.4	NP_001931.2:p.(His458=)	NC_000012.11:g.7045804T>C	(Likely) benign	1 lab	abd7fd5edf
1:240371079 FMN2 TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG>T	1	240371079	240371144	TCCCCCACTTCCCGGAGCGGGCATACCCCCTCCG	T	FMN2	c.3012_3044del	NM_001305424.2	NP_001292353.1:p.(Ala1098_Gly1108del)	NC_000001.10:g.240371112_240371144del	(Likely) benign	1 lab	abd85a72e6
19:49705249 TRPM4 G>A	19	49705249	49705249	G	A	TRPM4	c.2982G>A	NM_017636.4	NP_060106.2:p.(Ser994=)	NC_000019.9:g.49705249G>A	(Likely) benign	1 lab	abdfed554c
19:55316354 KIR2DL4 G>T	19	55316354	55316354	G	T	KIR2DL4	c.183G>T	NM_001080772.2	NP_001074241.1:p.(Thr61=)	NC_000019.9:g.55316354G>T	(Likely) benign	1 lab	abf0fbd344
22:18323608 MICAL3 Ref too long to show for this DEL>A	22	18323608	18346813	Ref too long to show for this DEL	A	MICAL3	c.2605+852_2801+979del	NM_015241.3	NP_056056.2:p.?	NC_000022.10:g.18323609_18346813del	VUS	1 lab	abf7f52354
8:144295321 GPIHBP1 C>G	8	144295321	144295321	C	G	GPIHBP1	c.52+127C>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295321C>G	(Likely) benign	1 lab	ac2934f0d0
3:181407034 MISSING Ref too long to show for this DEL>A	3	181407034	181609783	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.181407035_181609783del	(Likely) pathogenic	1 lab	abf995f896
5:148406466 SH3TC2 A>C	5	148406466	148406466	A	C	SH3TC2	c.2829T>G	NM_024577.4	NP_078853.2:p.(Tyr943Ter)	NC_000005.9:g.148406466A>C	(Likely) pathogenic	1 lab	abfb83afd8
17:16738145 MISSING Ref too long to show for this DEL>A	17	16738145	20446820	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.16738146_20446820del	(Likely) pathogenic	1 lab	abfd00e5b3
12:118199287 KSR2 G>T	12	118199287	118199287	G	T	KSR2	c.515C>A	NM_173598.6	NP_775869.4:p.(Thr172Lys)	NC_000012.11:g.118199287G>T	VUS	1 lab	abfe50b5a5
11:108158420 ATM A>G	11	108158420	108158420	A	G	ATM	c.4087A>G	NM_000051.4	NP_000042.3:p.(Thr1363Ala)	NC_000011.9:g.108158420A>G	VUS	1 lab	ac00699414
2:27601208 ZNF513 T>C	2	27601208	27601208	T	C	ZNF513	c.830A>G	NM_144631.6	NP_653232.3:p.(His277Arg)	NC_000002.11:g.27601208T>C	VUS	1 lab	ac15734d83
11:47357125 MYBPC3 A>G	11	47357125	47357125	A	G	MYBPC3	c.2737+303T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357125A>G	(Likely) benign	1 lab	ac184c94d6
15:44856872 SPG11 C>G	15	44856872	44856872	C	G	SPG11	c.7024G>C	NM_025137.4	NP_079413.3:p.(Asp2342His)	NC_000015.9:g.44856872C>G	(Likely) benign	1 lab	ac1ba726de
11:103036733 DYNC2H1 A>C	11	103036733	103036733	A	C	DYNC2H1	c.4718A>C	NM_001080463.2	NP_001073932.1:p.(Gln1573Pro)	NC_000011.9:g.103036733A>C	VUS	1 lab	ac26aef5b8
15:22770420 MISSING Ref too long to show for this DEL>A	15	22770420	23291161	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770423_23291161del	(Likely) pathogenic	1 lab	ac272164fd
X:153594308 FLNA A>G	X	153594308	153594308	A	G	FLNA	c.1429+84T>C	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153594308A>G	(Likely) benign	1 lab	ac27a291ba
1:74808640 TNNI3K T>C	1	74808640	74808640	T	C	TNNI3K	c.797T>C	NM_015978.3	NP_057062.1:p.(Val266Ala)	NC_000001.10:g.74808640T>C	VUS	1 lab	ac2cd7970b
2:179495974 TTN C>G	2	179495974	179495974	C	G	TTN	c.43801G>C	NM_001267550.2	NP_001254479.2:p.(Asp14601His)	NC_000002.11:g.179495974C>G	VUS	1 lab	ac2e502c13
4:103808572 CISD2 G>A	4	103808572	103808572	G	A	CISD2	c.393G>A	NM_001008388.5	NP_001008389.1:p.(Lys131=)	NC_000004.11:g.103808572G>A	(Likely) benign	1 lab	ac2f9ca1b1
2:179475094 TTN A>G	2	179475094	179475094	A	G	TTN	c.51159T>C	NM_001267550.2	NP_001254479.2:p.(Asp17053=)	NC_000002.11:g.179475094A>G	(Likely) benign	1 lab	ac30b0e42b
2:179481575 TTN A>C	2	179481575	179481575	A	C	TTN	c.48041T>G	NM_001267550.2	NP_001254479.2:p.(Leu16014Trp)	NC_000002.11:g.179481575A>C	VUS	1 lab	ac33115231
1:74929131 TNNI3K C>T	1	74929131	74929131	C	T	TNNI3K	c.2018C>T	NM_015978.3	NP_057062.1:p.(Ala673Val)	NC_000001.10:g.74929131C>T	VUS	1 lab	ac34d30d2a
16:921165 LMF1 T>A	16	921165	921165	T	A	LMF1	c.675A>T	NM_001352018.2	NP_001338947.1:p.(Arg225Ser)	NC_000016.9:g.921165T>A	VUS	1 lab	ac3653aab1
6:135611603 AHI1 C>T	6	135611603	135611603	C	T	AHI1	c.3546G>A	NM_001350503.2	NP_001337432.1:p.(Met1182Ile)	NC_000006.11:g.135611603C>T	(Likely) benign	1 lab	ac368526b5
19:11216278 LDLR T>C	19	11216278	11216278	T	C	LDLR	c.694+2T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216278T>C	(Likely) pathogenic	1 lab	ac36c769d1
2:179577088 TTN T>A	2	179577088	179577088	T	A	TTN	c.27561A>T	NM_001267550.2	NP_001254479.2:p.(Glu9187Asp)	NC_000002.11:g.179577088T>A	VUS	1 lab	ac39286772
2:21234220 APOB A>G	2	21234220	21234220	A	G	APOB	c.5520T>C	NM_000384.3	NP_000375.3:p.(Tyr1840=)	NC_000002.11:g.21234220A>G	(Likely) benign	1 lab	ac3ac84c2e
2:21238385 APOB C>A	2	21238385	21238385	C	A	APOB	c.3365G>T	NM_000384.3	NP_000375.3:p.(Gly1122Val)	NC_000002.11:g.21238385C>A	(Likely) benign	1 lab	ac3e321803
2:1488458 TPO G>A	2	1488458	1488458	G	A	TPO	c.1429G>A	NM_000547.6	NP_000538.3:p.(Ala477Thr)	NC_000002.11:g.1488458G>A	VUS	1 lab	ac3e8785f8
8:6389889 ANGPT2 C>A	8	6389889	6389889	C	A	ANGPT2	c.408G>T	NM_001147.3	NP_001138.1:p.(Ala136=)	NC_000008.10:g.6389889C>A	(Likely) benign	1 lab	ac41f48251
1:237666682 RYR2 A>T	1	237666682	237666682	A	T	RYR2	c.2490A>T	NM_001035.3	NP_001026.2:p.(Glu830Asp)	NC_000001.10:g.237666682A>T	VUS	1 lab	ac47ee25eb
11:71152476 DHCR7 GT>G	11	71152476	71152478	GT	G	DHCR7	c.422del	NM_001360.3	NP_001351.2:p.(Asn141ThrfsTer80)	NC_000011.9:g.71152478del	(Likely) pathogenic	1 lab	ac4a04355b
6:32057148 TNXB C>T	6	32057148	32057148	C	T	TNXB	c.2367G>A	NM_019105.8	NP_061978.6:p.(Gly789=)	NC_000006.11:g.32057148C>T	(Likely) benign	1 lab	ac4c388c09
16:67918030 EDC4 C>T	16	67918030	67918030	C	T	EDC4	c.4185C>T	NM_014329.5	NP_055144.3:p.(Leu1395=)	NC_000016.9:g.67918030C>T	(Likely) benign	1 lab	ac4c99f881
15:48936604 FBN1 C>T	15	48936604	48936604	C	T	FBN1	c.164+199G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48936604C>T	(Likely) benign	1 lab	ac55c8544d
15:48729205 FBN1 C>T	15	48729205	48729205	C	T	FBN1	c.6449G>A	NM_000138.5	NP_000129.3:p.(Arg2150His)	NC_000015.9:g.48729205C>T	VUS	1 lab	ac599627f1
16:46746655 MYLK3 G>A	16	46746655	46746655	G	A	MYLK3	c.2019C>T	NM_182493.3	NP_872299.2:p.(Phe673=)	NC_000016.9:g.46746655G>A	(Likely) benign	1 lab	ac5b64356b
10:78673840 KCNMA1 C>T	10	78673840	78673840	C	T	KCNMA1	c.2907G>A	NM_001271519.2	NP_001258448.1:p.(Thr969=)	NC_000010.10:g.78673840C>T	(Likely) benign	1 lab	ac6b1ff725
X:32383222 DMD G>A	X	32383222	32383222	G	A	DMD	c.4940C>T	NM_004006.3	NP_003997.2:p.(Thr1647Met)	NC_000023.10:g.32383222G>A	VUS	1 lab	ac6cc32bb5
3:97497310 MISSING Ref too long to show for this DEL>T	3	97497310	97635568	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.97497311_97635568del	VUS	1 lab	ac701094ae
8:38287268 FGFR1 C>T	8	38287268	38287268	C	T	FGFR1	c.290G>A	NM_023110.3	NP_075598.2:p.(Gly97Asp)	NC_000008.10:g.38287268C>T	(Likely) pathogenic	1 lab	ac7132cdbd
19:17983503 SLC5A5 G>T	19	17983503	17983503	G	T	SLC5A5	c.357+18G>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17983503G>T	(Likely) benign	1 lab	ac724bd97a
10:69882081 MYPN C>G	10	69882081	69882081	C	G	MYPN	c.886C>G	NM_032578.4	NP_115967.2:p.(Pro296Ala)	NC_000010.10:g.69882081C>G	VUS	1 lab	ac764eb102
6:123759284 TRDN A>C	6	123759284	123759284	A	C	TRDN	c.992-17T>G	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123759284A>C	(Likely) benign	1 lab	ac7abeb75a
19:6496005 TUBB4A C>T	19	6496005	6496005	C	T	TUBB4A	c.505G>A	NM_006087.4	NP_006078.2:p.(Val169Met)	NC_000019.9:g.6496005C>T	VUS	1 lab	ace537124d
8:19817621 LPL GAAAT>G	8	19817621	19817628	GAAAT	G	LPL	c.1139+734_1139+737del	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19817625_19817628del	(Likely) benign	1 lab	ac7b835e4a
2:179632835 TTN C>G	2	179632835	179632835	C	G	TTN	c.9211G>C	NM_001267550.2	NP_001254479.2:p.(Glu3071Gln)	NC_000002.11:g.179632835C>G	VUS	1 lab	ac7cd1e216
1:211844616 NEK2 T>C	1	211844616	211844616	T	C	NEK2	c.566A>G	NM_002497.4	NP_002488.1:p.(Asn189Ser)	NC_000001.10:g.211844616T>C	(Likely) benign	1 lab	ac7cd43da1
20:57466877 GNAS G>A	20	57466877	57466877	G	A	GNAS	c.96G>A	NM_001077488.5	NP_001070956.1:p.(Lys32=)	NC_000020.10:g.57466877G>A	(Likely) benign	1 lab	ac7fca601d
2:21229280 APOB G>T	2	21229280	21229280	G	T	APOB	c.10460C>A	NM_000384.3	NP_000375.3:p.(Thr3487Asn)	NC_000002.11:g.21229280G>T	VUS	1 lab	ac85511fc1
9:137704467 COL5A1 CT>C	9	137704467	137704468	CT	C	COL5A1	c.3762del	NM_000093.5	NP_000084.3:p.(Gly1255AlafsTer21)	NC_000009.11:g.137704468del	(Likely) pathogenic	1 lab	ac86f088ac
7:70249050 MISSING T>Alt too long to show for this DUP	7	70249050	70585931	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.70249052_70585931dup	VUS	1 lab	ac89abd943
2:44066542 ABCG8 CTTTTTTTTTTTTTTTTTTTTTTTTTTT>C	2	44066542	44066583	CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C	ABCG8	c.63+302_63+328del	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44066557_44066583del	(Likely) benign	1 lab	ac8f8c09a2
11:116706569 APOA1 G>A	11	116706569	116706569	G	A	APOA1	c.759C>T	NM_000039.3	NP_000030.1:p.(Phe253=)	NC_000011.9:g.116706569G>A	(Likely) benign	1 lab	ac90476f5a
22:41921262 ACO2 C>T	22	41921262	41921262	C	T	ACO2	c.1671C>T	NM_001098.3	NP_001089.1:p.(Asp557=)	NC_000022.10:g.41921262C>T	(Likely) benign	1 lab	ac98d92000
2:179395916 TTN C>G	2	179395916	179395916	C	G	TTN	c.105426G>C	NM_001267550.2	NP_001254479.2:p.(Glu35142Asp)	NC_000002.11:g.179395916C>G	VUS	1 lab	ac9b360e28
11:108196763 ATM C>A	11	108196763	108196763	C	A	ATM	c.6808-22C>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108196763C>A	(Likely) benign	1 lab	ac9b846bf5
12:21377717 SLCO1B1 C>G	12	21377717	21377717	C	G	SLCO1B1	c.1809C>G	NM_006446.5	NP_006437.3:p.(Ser603=)	NC_000012.11:g.21377717C>G	(Likely) benign	1 lab	acac402839
2:21249682 APOB G>T	2	21249682	21249682	G	T	APOB	c.2222C>A	NM_000384.3	NP_000375.3:p.(Thr741Asn)	NC_000002.11:g.21249682G>T	(Likely) benign	1 lab	acbb4807fb
10:69881537 MYPN G>C	10	69881537	69881537	G	C	MYPN	c.342G>C	NM_032578.4	NP_115967.2:p.(Glu114Asp)	NC_000010.10:g.69881537G>C	VUS	1 lab	acc1b7baa6
5:179263554 SQSTM1 G>T	5	179263554	179263554	G	T	SQSTM1	c.1284G>T	NM_003900.5	NP_003891.1:p.(Leu428=)	NC_000005.9:g.179263554G>T	(Likely) benign	1 lab	acc38401c8
1:55527216 PCSK9 C>A	1	55527216	55527216	C	A	PCSK9	c.1850C>A	NM_174936.4	NP_777596.2:p.(Ala617Asp)	NC_000001.10:g.55527216C>A	VUS	1 lab	acc5e6d6f7
11:108216612 ATM G>A	11	108216612	108216612	G	A	ATM	c.8561G>A	NM_000051.4	NP_000042.3:p.(Arg2854His)	NC_000011.9:g.108216612G>A	VUS	1 lab	acca99c54c
3:30715647 TGFBR2 T>C	3	30715647	30715647	T	C	TGFBR2	c.1380T>C	NM_001024847.2	NP_001020018.1:p.(Asn460=)	NC_000003.11:g.30715647T>C	(Likely) benign	1 lab	acccf3432a
17:42992593 GFAP G>A	17	42992593	42992593	G	A	GFAP	c.262C>T	NM_002055.5	NP_002046.1:p.(Arg88Cys)	NC_000017.10:g.42992593G>A	(Likely) pathogenic	1 lab	acd578c189
5:172660137 NKX2-5 C>T	5	172660137	172660137	C	T	NKX2-5	c.410G>A	NM_004387.4	NP_004378.1:p.(Arg137Gln)	NC_000005.9:g.172660137C>T	VUS	1 lab	acd743cf83
11:108202580 ATM TA>T	11	108202580	108202583	TA	T	ATM	c.7630-23del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202583del	(Likely) benign	1 lab	acdb916e13
7:128045813 IMPDH1 G>T	7	128045813	128045813	G	T	IMPDH1	c.353+8C>A	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128045813G>T	(Likely) benign	1 lab	ace09b9d83
9:139391420 NOTCH1 C>T	9	139391420	139391420	C	T	NOTCH1	c.6771G>A	NM_017617.5	NP_060087.3:p.(Ala2257=)	NC_000009.11:g.139391420C>T	(Likely) benign	1 lab	ace0a2e149
17:15142830 PMP22 C>G	17	15142830	15142830	C	G	PMP22	c.277G>C	NM_000304.4	NP_000295.1:p.(Gly93Arg)	NC_000017.10:g.15142830C>G	(Likely) pathogenic	1 lab	ace239c8be
15:58840717 LIPC C>T	15	58840717	58840717	C	T	LIPC	c.997C>T	NM_000236.3	NP_000227.2:p.(Arg333Trp)	NC_000015.9:g.58840717C>T	VUS	1 lab	acec09bf8f
16:984244 LMF1 C>T	16	984244	984244	C	T	LMF1	c.187G>A	NM_001352019.2	NP_001338948.1:p.(Gly63Arg)	NC_000016.9:g.984244C>T	VUS	1 lab	acec2ccde5
10:88477851 LDB3 G>GAGCA	10	88477851	88477856	G	GAGCA	LDB3	c.1824_1827dup	NM_001171610.2	NP_001165081.1:p.(Phe610AlafsTer133)	NC_000010.10:g.88477853_88477856dup	(Likely) pathogenic	1 lab	acee83a811
11:47370558 MYBPC3 C>T	11	47370558	47370558	C	T	MYBPC3	c.655-466G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370558C>T	(Likely) benign	1 lab	acf4e554b9
4:114208876 ANK2 T>C	4	114208876	114208876	T	C	ANK2	c.2178+17T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114208876T>C	(Likely) benign	1 lab	acf5c4afd0
17:45299814 MYL4 A>T	17	45299814	45299814	A	T	MYL4	c.556A>T	NM_001002841.2	NP_001002841.1:p.(Asn186Tyr)	NC_000017.10:g.45299814A>T	(Likely) benign	1 lab	acf9fad237
10:124269687 HTRA1 G>A	10	124269687	124269687	G	A	HTRA1	c.1178+18G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124269687G>A	(Likely) benign	1 lab	ad01deb959
18:10911136 PIEZO2 T>TGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA	18	10911136	10911137	T	TGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA	PIEZO2	c.329+47_329+48insTCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10911136_10911137insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA	(Likely) benign	1 lab	ad08ede981
9:107593182 ABCA1 A>T	9	107593182	107593182	A	T	ABCA1	c.1892+24T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593182A>T	(Likely) benign	1 lab	ad1659d116
3:49760477 GMPPB G>A	3	49760477	49760477	G	A	GMPPB	c.330C>T	NM_013334.4	NP_037466.3:p.(Asp110=)	NC_000003.11:g.49760477G>A	(Likely) benign	1 lab	ad19415d40
17:29676104 NF1 CTTGTTTGTTTGT>C	17	29676104	29676130	CTTGTTTGTTTGT	C	NF1	c.7190-19_7190-8del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29676119_29676130del	(Likely) benign	1 lab	ad1a1efda6
11:46334038 CREB3L1 A>T	11	46334038	46334038	A	T	CREB3L1	c.903+13A>T	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46334038A>T	(Likely) benign	1 lab	ad1aa42e40
10:68526160 CTNNA3 A>G	10	68526160	68526160	A	G	CTNNA3	c.1143T>C	NM_013266.4	NP_037398.2:p.(Ile381=)	NC_000010.10:g.68526160A>G	(Likely) benign	1 lab	ad1be47a5d
1:202915752 ADIPOR1 A>G	1	202915752	202915752	A	G	ADIPOR1	c.259-14T>C	NM_001290557.1	NP_001277486.1:p.?	NC_000001.10:g.202915752A>G	VUS	1 lab	ad1dacb348
16:30675747 FBRS T>C	16	30675747	30675747	T	C	FBRS	c.1267T>C	NM_001105079.3	NP_001098549.2:p.(Leu423=)	NC_000016.9:g.30675747T>C	(Likely) benign	1 lab	ad20abddee
11:118509659 PHLDB1 C>T	11	118509659	118509659	C	T	PHLDB1	c.2586C>T	NM_001144758.3	NP_001138230.1:p.(Ala862=)	NC_000011.9:g.118509659C>T	(Likely) benign	1 lab	ad2281eccb
17:57139958 TRIM37 T>C	17	57139958	57139958	T	C	TRIM37	c.912A>G	NM_001005207.5	NP_001005207.1:p.(Ser304=)	NC_000017.10:g.57139958T>C	(Likely) benign	1 lab	ad23078fc2
2:44101417 ABCG8 T>TA	2	44101417	44101428	T	TA	ABCG8	c.1412-118dup	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101428dup	(Likely) benign	1 lab	ad248d26cd
4:8872957 HMX1 G>A	4	8872957	8872957	G	A	HMX1	c.384C>T	NM_018942.3	NP_061815.2:p.(Leu128=)	NC_000004.11:g.8872957G>A	(Likely) benign	1 lab	ad28ba9c8c
2:182438630 CERKL G>T	2	182438630	182438630	G	T	CERKL	c.482-19C>A	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182438630G>T	(Likely) benign	1 lab	ad2d20ce8f
6:168593495 MISSING A>Alt too long to show for this DUP	6	168593495	169039855	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.168593497_169039855dup	VUS	1 lab	ad2d5b9d72
7:5567486 ACTB T>G	7	5567486	5567486	T	G	ACTB	c.1021A>C	NM_001101.5	NP_001092.1:p.(Ile341Leu)	NC_000007.13:g.5567486T>G	(Likely) pathogenic	1 lab	ad2ec25f24
9:130241667 LRSAM1 G>A	9	130241667	130241667	G	A	LRSAM1	c.786G>A	NM_138361.5	NP_612370.3:p.(Gln262=)	NC_000009.11:g.130241667G>A	(Likely) benign	1 lab	ad30b52a65
8:53817628 MISSING Ref too long to show for this DEL>C	8	53817628	54075716	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.53817630_54075716del	VUS	1 lab	ad340d8b0a
2:21225913 APOB G>A	2	21225913	21225913	G	A	APOB	c.12381C>T	NM_000384.3	NP_000375.3:p.(Asp4127=)	NC_000002.11:g.21225913G>A	(Likely) benign	1 lab	ad359a7f1c
10:61926398 ANK3 A>G	10	61926398	61926398	A	G	ANK3	c.2565T>C	NM_020987.5	NP_066267.2:p.(Asn855=)	NC_000010.10:g.61926398A>G	(Likely) benign	1 lab	ad37ce8cad
X:67652844 OPHN1 C>T	X	67652844	67652844	C	T	OPHN1	c.19G>A	NM_002547.3	NP_002538.1:p.(Glu7Lys)	NC_000023.10:g.67652844C>T	VUS	1 lab	ad3e55c1ff
16:67974011 LCAT C>T	16	67974011	67974011	C	T	LCAT	c.1119G>A	NM_000229.2	NP_000220.1:p.(Ala373=)	NC_000016.9:g.67974011C>T	(Likely) benign	1 lab	ad4041f684
16:17353101 XYLT1 G>A	16	17353101	17353101	G	A	XYLT1	c.657C>T	NM_022166.4	NP_071449.1:p.(Pro219=)	NC_000016.9:g.17353101G>A	(Likely) benign	1 lab	ad420ac592
5:138260254 CTNNA1 T>C	5	138260254	138260254	T	C	CTNNA1	c.1602T>C	NM_001903.5	NP_001894.2:p.(Asp534=)	NC_000005.9:g.138260254T>C	(Likely) benign	1 lab	ad43c3a405
7:92123588 PEX1 C>G	7	92123588	92123588	C	G	PEX1	c.2406+19G>C	NM_001282678.2	NP_001269607.1:p.?	NC_000007.13:g.92123588C>G	(Likely) benign	1 lab	ad51dabe3e
2:179414318 TTN-AS1 C>T	2	179414318	179414318	C	T	TTN-AS1	n.2043+7230C>T	NR_038272.1		NC_000002.11:g.179414318C>T	(Likely) benign	1 lab	ad54a9011c
3:71167332 FOXP1 Ref too long to show for this DEL>T	3	71167332	71199024	Ref too long to show for this DEL	T	FOXP1	c.181-37236_181-5545del	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71167333_71199024del	VUS	1 lab	ad5a21be4b
20:45353514 SLC2A10 C>T	20	45353514	45353514	C	T	SLC2A10	c.5-166C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45353514C>T	(Likely) benign	1 lab	ad5b5a7c90
8:1857599 ARHGEF10 G>A	8	1857599	1857599	G	A	ARHGEF10	c.2178G>A	NM_001308153.2	NP_001295082.1:p.(Pro726=)	NC_000008.10:g.1857599G>A	(Likely) benign	1 lab	ad5b7970ec
20:54824476 MC3R A>G	20	54824476	54824476	A	G	MC3R	c.577A>G	NM_019888.3	NP_063941.3:p.(Ile193Val)	NC_000020.10:g.54824476A>G	VUS	1 lab	ad62a0ad20
10:91007275 LIPA C>T	10	91007275	91007275	C	T	LIPA	c.111+20G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007275C>T	(Likely) benign	1 lab	ad64b08f7e
2:206808007 MISSING C>Alt too long to show for this DUP	2	206808007	206882448	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.206808008_206882448dup	VUS	1 lab	ad6b844364
12:125348271 SCARB1 G>A	12	125348271	125348271	G	A	SCARB1	c.-5C>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125348271G>A	(Likely) benign	1 lab	ad725c9725
16:88798788 PIEZO1 G>A	16	88798788	88798788	G	A	PIEZO1	c.2946C>T	NM_001142864.4	NP_001136336.2:p.(Cys982=)	NC_000016.9:g.88798788G>A	(Likely) benign	1 lab	ad75c415fc
8:133894816 TG G>A	8	133894816	133894816	G	A	TG	c.848G>A	NM_003235.5	NP_003226.4:p.(Arg283Gln)	NC_000008.10:g.133894816G>A	(Likely) benign	1 lab	ad76ef0218
16:88804018 PIEZO1 TATC>T	16	88804018	88804022	TATC	T	PIEZO1	c.1141_1143del	NM_001142864.4	NP_001136336.2:p.(Asp381del)	NC_000016.9:g.88804020_88804022del	(Likely) benign	1 lab	ad7ddffa31
7:44146710 AEBP1 A>G	7	44146710	44146710	A	G	AEBP1	c.595+224A>G	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44146710A>G	(Likely) benign	1 lab	ad7f2911e0
18:47116859 LIPG G>A	18	47116859	47116859	G	A	LIPG	c.1482-12G>A	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116859G>A	VUS	1 lab	ad81c82f52
4:100530586 MTTP G>A	4	100530586	100530586	G	A	MTTP	c.1769+452G>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100530586G>A	(Likely) benign	1 lab	ad83e64609
1:150532600 ADAMTSL4 C>A	1	150532600	150532600	C	A	ADAMTSL4	c.3153C>A	NM_019032.6	NP_061905.2:p.(Tyr1051Ter)	NC_000001.10:g.150532600C>A	(Likely) pathogenic	1 lab	ad845a4cbf
15:89843213 FANCI T>G	15	89843213	89843213	T	G	FANCI	c.2803+16T>G	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89843213T>G	(Likely) benign	1 lab	ad94085f2e
5:89953937 ADGRV1 G>T	5	89953937	89953937	G	T	ADGRV1	c.4594G>T	NM_032119.4	NP_115495.3:p.(Asp1532Tyr)	NC_000005.9:g.89953937G>T	VUS	1 lab	ad976b713d
15:34534421 SLC12A6 C>A	15	34534421	34534421	C	A	SLC12A6	c.2044G>T	NM_133647.2	NP_598408.1:p.(Ala682Ser)	NC_000015.9:g.34534421C>A	VUS	1 lab	ad9ccb44b9
8:19796592 LPL G>A	8	19796592	19796592	G	A	LPL				NC_000008.10:g.19796592G>A	VUS	1 lab	ae89ef4f58
12:124401117 DNAH10 C>T	12	124401117	124401117	C	T	DNAH10	c.10482C>T	NM_207437.3	NP_997320.2:p.(Asn3494=)	NC_000012.11:g.124401117C>T	(Likely) benign	1 lab	ada03fadd5
17:48263427 COL1A1 C>T	17	48263427	48263427	C	T	COL1A1	c.4006-46G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48263427C>T	(Likely) benign	1 lab	ada79b6149
3:14172467 TMEM43 C>T	3	14172467	14172467	C	T	TMEM43	c.297+11C>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14172467C>T	(Likely) benign	1 lab	ada9425c21
16:68638556 MISSING C>Alt too long to show for this DUP	16	68638556	68932356	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.68638559_68932356dup	VUS	1 lab	adba0af554
15:71447504 THSD4 G>A	15	71447504	71447504	G	A	THSD4	c.99+233G>A	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.71447504G>A	(Likely) benign	1 lab	adbdd23a3b
12:2788901 CACNA1C G>A	12	2788901	2788901	G	A	CACNA1C	c.5527G>A	NM_199460.4	NP_955630.3:p.(Gly1843Arg)	NC_000012.11:g.2788901G>A	(Likely) benign	1 lab	adbf4d51c8
5:176710792 NSD1 G>A	5	176710792	176710792	G	A	NSD1	c.6014G>A	NM_022455.5	NP_071900.2:p.(Arg2005Gln)	NC_000005.9:g.176710792G>A	(Likely) pathogenic	1 lab	adc2371cab
4:41748019 PHOX2B C>T	4	41748019	41748019	C	T	PHOX2B	c.750G>A	NM_003924.4	NP_003915.2:p.(Ala250=)	NC_000004.11:g.41748019C>T	(Likely) benign	1 lab	adc492d78a
X:110159135 MISSING C>Alt too long to show for this DUP	X	110159135	110404291	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.110159137_110404291dup	VUS	1 lab	adc9e326ef
19:7437954 ARHGEF18 G>A	19	7437954	7437954	G	A	ARHGEF18	c.272G>A	NM_001367823.1	NP_001354752.1:p.(Arg91Gln)	NC_000019.9:g.7437954G>A	(Likely) benign	1 lab	adca9d0615
22:33255274 TIMP3 C>T	22	33255274	33255274	C	T	TIMP3	c.546C>T	NM_000362.5	NP_000353.1:p.(Tyr182=)	NC_000022.10:g.33255274C>T	(Likely) benign	1 lab	adcbac8c93
2:179426011 TTN T>C	2	179426011	179426011	T	C	TTN	c.77144A>G	NM_133378.4	NP_596869.4:p.(Lys25715Arg)	NC_000002.11:g.179426011T>C	VUS	1 lab	adcc69c1da
2:44099127 ABCG8 G>A	2	44099127	44099127	G	A	ABCG8	c.977G>A	NM_022437.3	NP_071882.1:p.(Ser326Asn)	NC_000002.11:g.44099127G>A	VUS	1 lab	adcdb85346
20:744270 SLC52A3 G>A	20	744270	744270	G	A	SLC52A3	c.945C>T	NM_001370086.1	NP_001357015.1:p.(Asn315=)	NC_000020.10:g.744270G>A	(Likely) benign	1 lab	adceb25ea6
2:44079861 ABCG8 G>A	2	44079861	44079861	G	A	ABCG8	c.818G>A	NM_022437.3	NP_071882.1:p.(Arg273His)	NC_000002.11:g.44079861G>A	VUS	1 lab	adcf9f1d5f
19:11231130 LDLR C>G	19	11231130	11231130	C	G	LDLR	c.2072C>G	NM_000527.5	NP_000518.1:p.(Ser691Trp)	NC_000019.9:g.11231130C>G	VUS	1 lab	add2af8daf
2:233258270 MISSING T>Alt too long to show for this DUP	2	233258270	233369713	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.233258271_233369713dup	VUS	1 lab	add300b083
15:58834336 LIPC G>A	15	58834336	58834336	G	A	LIPC	c.456+170G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834336G>A	(Likely) benign	1 lab	add9369977
X:135292090 FHL1 T>C	X	135292090	135292090	T	C	FHL1	c.749T>C	NM_001159704.1	NP_001153176.1:p.(Phe250Ser)	NC_000023.10:g.135292090T>C	VUS	1 lab	addeee7c5f
16:72821381 ZFHX3 A>G	16	72821381	72821381	A	G	ZFHX3	c.10794T>C	NM_006885.4	NP_008816.3:p.(Pro3598=)	NC_000016.9:g.72821381A>G	(Likely) benign	1 lab	addf6e7737
5:134369463 PITX1 C>T	5	134369463	134369463	C	T	PITX1	c.109G>A	NM_002653.5	NP_002644.4:p.(Ala37Thr)	NC_000005.9:g.134369463C>T	VUS	1 lab	ade45f9991
1:6530142 PLEKHG5 T>G	1	6530142	6530142	T	G	PLEKHG5	c.1800+154A>C	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6530142T>G	(Likely) benign	1 lab	ade7a3fe4a
14:23866415 MYH6 C>G	14	23866415	23866415	C	G	MYH6	c.2014G>C	NM_002471.4	NP_002462.2:p.(Val672Leu)	NC_000014.8:g.23866415C>G	VUS	1 lab	ade8882c0e
2:44102501 ABCG8 T>C	2	44102501	44102501	T	C	ABCG8	c.1705T>C	NM_022437.3	NP_071882.1:p.(Ser569Pro)	NC_000002.11:g.44102501T>C	VUS	1 lab	ade92f5dda
4:100534273 MTTP T>C	4	100534273	100534273	T	C	MTTP	c.2193T>C	NM_000253.4	NP_000244.2:p.(Leu731=)	NC_000004.11:g.100534273T>C	(Likely) benign	1 lab	adf0792829
11:47433886 SLC39A13 G>A	11	47433886	47433886	G	A	SLC39A13	c.416-11G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47433886G>A	(Likely) benign	1 lab	adf536a5b5
X:140094741 MISSING Ref too long to show for this DEL>C	X	140094741	140683965	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.140094744_140683965del	VUS	1 lab	ae02ddc863
10:90984862 LIPA T>C	10	90984862	90984862	T	C	LIPA	c.662A>G	NM_000235.4	NP_000226.2:p.(Asp221Gly)	NC_000010.10:g.90984862T>C	(Likely) benign	1 lab	ae05633a50
16:8543642 MISSING Ref too long to show for this DEL>A	16	8543642	8611340	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.8543644_8611340del	VUS	1 lab	ae076f984c
4:166405670 CPE A>G	4	166405670	166405670	A	G	CPE	c.887A>G	NM_001873.4	NP_001864.1:p.(Asn296Ser)	NC_000004.11:g.166405670A>G	(Likely) benign	1 lab	ae07bc5949
22:16287772 POTEH G>A	22	16287772	16287772	G	A	POTEH	c.114C>T	NM_001136213.1	NP_001129685.1:p.(Ser38=)	NC_000022.10:g.16287772G>A	(Likely) benign	1 lab	ae089ccd53
1:152285180 FLG CGTGCCCA>C	1	152285180	152285192	CGTGCCCA	C	FLG	c.2175_2181del	NM_002016.2	NP_002007.1:p.(Gly726AspfsTer70)	NC_000001.10:g.152285186_152285192del	(Likely) pathogenic	1 lab	ae0a64a212
13:114321991 GRK1 C>T	13	114321991	114321991	C	T	GRK1	c.290C>T	NM_002929.3	NP_002920.1:p.(Thr97Met)	NC_000013.10:g.114321991C>T	(Likely) benign	1 lab	ae0efd8bf4
2:179403836 TTN G>C	2	179403836	179403836	G	C	TTN	c.98826C>G	NM_001267550.2	NP_001254479.2:p.(Asp32942Glu)	NC_000002.11:g.179403836G>C	(Likely) benign	1 lab	ae116ce5d5
6:45471490 MISSING T>Alt too long to show for this DUP	6	45471490	45980279	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.45471492_45980279dup	(Likely) pathogenic	1 lab	ae142c690f
6:56336882 DST T>C	6	56336882	56336882	T	C	DST	c.15776A>G	NM_001144769.5	NP_001138241.1:p.(Asn5259Ser)	NC_000006.11:g.56336882T>C	VUS	1 lab	ae17bdaaf5
11:47358891 MYBPC3 G>A	11	47358891	47358891	G	A	MYBPC3	c.2602+51C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358891G>A	(Likely) benign	1 lab	ae215589e6
6:44233216 NFKBIE G>C	6	44233216	44233216	G	C	NFKBIE	c.-133C>G	NM_004556.3	NP_004547.3:p.?	NC_000006.11:g.44233216G>C	(Likely) benign	1 lab	aed464cafe
16:920019 LMF1 G>C	16	920019	920019	G	C	LMF1	c.881C>G	NM_001352018.2	NP_001338947.1:p.(Ser294Cys)	NC_000016.9:g.920019G>C	VUS	1 lab	ae2afc15ed
19:45411217 APOE TC>T	19	45411217	45411221	TC	T	APOE	c.314+12del	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45411221del	(Likely) benign	1 lab	ae2d0c2987
2:21252883 APOB G>C	2	21252883	21252883	G	C	APOB	c.1357C>G	NM_000384.3	NP_000375.3:p.(His453Asp)	NC_000002.11:g.21252883G>C	VUS	1 lab	ae2d2233ab
19:33882388 PEPD G>C	19	33882388	33882388	G	C	PEPD	c.968-3C>G	NM_000285.4	NP_000276.2:p.?	NC_000019.9:g.33882388G>C	VUS	1 lab	ae3661687c
2:179456538 TTN C>T	2	179456538	179456538	C	T	TTN	c.60008G>A	NM_001267550.2	NP_001254479.2:p.(Arg20003His)	NC_000002.11:g.179456538C>T	VUS	1 lab	ae39f41355
1:8418276 RERE T>TGGTGGA	1	8418276	8418293	T	TGGTGGA	RERE	c.4313_4318dup	NM_012102.4	NP_036234.3:p.(Leu1438_His1439dup)	NC_000001.10:g.8418288_8418293dup	(Likely) pathogenic	1 lab	ae42495144
19:51170147 SHANK1 G>A	19	51170147	51170147	G	A	SHANK1	c.5070C>T	NM_016148.5	NP_057232.2:p.(Thr1690=)	NC_000019.9:g.51170147G>A	(Likely) benign	1 lab	ae4b662c1d
16:67805993 RANBP10 CAA>C	16	67805993	67806013	CAA	C	RANBP10	c.348-6_348-5del	NM_020850.3	NP_065901.1:p.?	NC_000016.9:g.67806012_67806013del	(Likely) benign	1 lab	ae4c34fe77
2:179458153 TTN G>C	2	179458153	179458153	G	C	TTN	c.58782C>G	NM_001267550.2	NP_001254479.2:p.(Asp19594Glu)	NC_000002.11:g.179458153G>C	VUS	1 lab	ae534e0641
15:65370230 KBTBD13 A>G	15	65370230	65370230	A	G	KBTBD13	c.1077A>G	NM_001101362.3	NP_001094832.1:p.(Gly359=)	NC_000015.9:g.65370230A>G	(Likely) benign	1 lab	ae570aff0c
15:48748951 FBN1 C>T	15	48748951	48748951	C	T	FBN1	c.5305G>A	NM_000138.5	NP_000129.3:p.(Glu1769Lys)	NC_000015.9:g.48748951C>T	(Likely) pathogenic	1 lab	ae58a9ec75
9:137722028 COL5A1 TGGCCACCTCGGCCC>T	9	137722028	137722054	TGGCCACCTCGGCCC	T	COL5A1	c.5136+19_5136+32del	NM_001278074.1	NP_001265003.1:p.?	NC_000009.11:g.137722041_137722054del	(Likely) benign	1 lab	ae624a7a0a
9:33797991 PRSS3 G>A	9	33797991	33797991	G	A	PRSS3	c.407G>A	NM_001197097.3	NP_001184026.3:p.(Arg136His)	NC_000009.11:g.33797991G>A	(Likely) benign	1 lab	ae63568061
15:45445692 DUOX1 ATGTGTGTGTG>A	15	45445692	45445745	ATGTGTGTGTG	A	DUOX1	c.3524+59_3524+68del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445736_45445745del	(Likely) benign	1 lab	ae661838cc
17:41338393 MISSING G>Alt too long to show for this DUP	17	41338393	41429933	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.41338395_41429933dup	VUS	1 lab	ae683f707a
8:42995683 HGSNAT C>G	8	42995683	42995683	C	G	HGSNAT	c.44C>G	NM_001363227.2	NP_001350156.1:p.(Ala15Gly)	NC_000008.10:g.42995683C>G	(Likely) benign	1 lab	ae6f58f76d
22:41924545 ACO2 C>T	22	41924545	41924545	C	T	ACO2	c.2271C>T	NM_001098.3	NP_001089.1:p.(Thr757=)	NC_000022.10:g.41924545C>T	(Likely) benign	1 lab	ae70e51186
5:178634673 ADAMTS2 G>A	5	178634673	178634673	G	A	ADAMTS2	c.732C>T	NM_014244.5	NP_055059.2:p.(Gly244=)	NC_000005.9:g.178634673G>A	(Likely) benign	1 lab	ae712e467f
1:241661004 MISSING Ref too long to show for this DEL>A	1	241661004	241777085	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.241661005_241777085del	(Likely) pathogenic	1 lab	ae72ad0ca3
6:123957876 TRDN C>T	6	123957876	123957876	C	T	TRDN	c.22+23G>A	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123957876C>T	(Likely) benign	1 lab	ae8055caae
15:28261245 OCA2 C>T	15	28261245	28261245	C	T	OCA2	c.890+5G>A	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28261245C>T	VUS	1 lab	ae88f99454
2:44071750 ABCG8 A>G	2	44071750	44071750	A	G	ABCG8	c.165+3A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44071750A>G	(Likely) pathogenic	1 lab	ae8b6dff3a
1:161276676 MPZ G>T	1	161276676	161276676	G	T	MPZ	c.270C>A	NM_000530.8	NP_000521.2:p.(Asp90Glu)	NC_000001.10:g.161276676G>T	(Likely) pathogenic	1 lab	ae8d35524f
10:12143105 DHTKD1 C>A	10	12143105	12143105	C	A	DHTKD1	c.1821C>A	NM_018706.7	NP_061176.4:p.(Ile607=)	NC_000010.10:g.12143105C>A	(Likely) benign	1 lab	ae8e559155
11:47358040 MYBPC3 CA>C	11	47358040	47358064	CA	C	MYBPC3	c.2603-479del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358064del	(Likely) benign	1 lab	ae8f2a20b1
X:118604436 SLC25A5 T>A	X	118604436	118604436	T	A	SLC25A5	c.699T>A	NM_001152.5	NP_001143.2:p.(Thr233=)	NC_000023.10:g.118604436T>A	(Likely) benign	1 lab	ae91eeab54
12:88530477 CEP290 A>G	12	88530477	88530477	A	G	CEP290	c.384T>C	NM_025114.4	NP_079390.3:p.(Asp128=)	NC_000012.11:g.88530477A>G	(Likely) benign	1 lab	ae9326d2ea
19:11200226 LDLR-AS1 T>C	19	11200226	11200226	T	C	LDLR-AS1	n.110A>G	NR_163945.1		NC_000019.9:g.11200226T>C	(Likely) pathogenic	1 lab	ae99714e6c
11:126294677 KIRREL3 T>C	11	126294677	126294677	T	C	KIRREL3	c.2135A>G	NM_032531.4	NP_115920.1:p.(Gln712Arg)	NC_000011.9:g.126294677T>C	VUS	1 lab	ae9cb593c8
6:32009456 TNXB A>G	6	32009456	32009456	A	G	TNXB	c.12627+92T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009456A>G	(Likely) benign	1 lab	ae9e02edb6
5:112213101 MISSING Ref too long to show for this DEL>T	5	112213101	112276891	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.112213102_112276891del	VUS	1 lab	ae9eef30d2
4:100522807 MTTP C>T	4	100522807	100522807	C	T	MTTP	c.1280C>T	NM_000253.4	NP_000244.2:p.(Thr427Ile)	NC_000004.11:g.100522807C>T	VUS	1 lab	aea6c440a3
19:11227583 LDLR T>A	19	11227583	11227583	T	A	LDLR	c.1754T>A	NM_000527.5	NP_000518.1:p.(Ile585Asn)	NC_000019.9:g.11227583T>A	(Likely) pathogenic	1 lab	aea81c26e7
12:40904790 MUC19 A>G	12	40904790	40904790	A	G	MUC19	c.20212A>G	NM_173600.2	NP_775871.2:p.(Arg6738Gly)	NC_000012.11:g.40904790A>G	(Likely) benign	1 lab	aeaa403dd1
9:139390873 NOTCH1 G>A	9	139390873	139390873	G	A	NOTCH1	c.7318C>T	NM_017617.5	NP_060087.3:p.(Gln2440Ter)	NC_000009.11:g.139390873G>A	VUS	1 lab	aeaca630a0
17:8064190 VAMP2 C>T	17	8064190	8064190	C	T	VAMP2	c.335-1G>A	NM_014232.3	NP_055047.2:p.?	NC_000017.10:g.8064190C>T	VUS	1 lab	aead6ee51c
6:7585733 DSP C>T	6	7585733	7585733	C	T	DSP	c.8238C>T	NM_004415.4	NP_004406.2:p.(Ser2746=)	NC_000006.11:g.7585733C>T	(Likely) benign	1 lab	aeb051a39a
10:119072069 MISSING Ref too long to show for this DEL>T	10	119072069	119463218	Ref too long to show for this DEL	T	MISSING				NC_000010.10:g.119072071_119463218del	VUS	1 lab	aeb416be03
X:106884169 PRPS1 T>C	X	106884169	106884169	T	C	PRPS1	c.344T>C	NM_002764.4	NP_002755.1:p.(Met115Thr)	NC_000023.10:g.106884169T>C	(Likely) pathogenic	1 lab	aeb6f63037
2:21245823 APOB A>AC	2	21245823	21245827	A	AC	APOB	c.2695dup	NM_000384.3	NP_000375.3:p.(Val899GlyfsTer60)	NC_000002.11:g.21245827dup	(Likely) pathogenic	1 lab	aeb7299a54
9:95481484 BICD2 G>T	9	95481484	95481484	G	T	BICD2	c.1443C>A	NM_001003800.2	NP_001003800.1:p.(Leu481=)	NC_000009.11:g.95481484G>T	(Likely) benign	1 lab	aebb22576a
12:21327663 SLCO1B1 A>AC	12	21327663	21327664	A	AC	SLCO1B1	c.359+20_359+21insC	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327663_21327664insC	(Likely) benign	1 lab	aebc1e7e2e
8:27457507 CLU G>C	8	27457507	27457507	G	C	CLU	c.954C>G	NM_001831.4	NP_001822.3:p.(Pro318=)	NC_000008.10:g.27457507G>C	(Likely) benign	1 lab	aebc37d232
5:177422815 PROP1 C>T	5	177422815	177422815	C	T	PROP1	c.109+11G>A	NM_006261.5	NP_006252.4:p.?	NC_000005.9:g.177422815C>T	(Likely) benign	1 lab	aebdb9b0e9
7:100637887 MUC12 A>G	7	100637887	100637887	A	G	MUC12	c.4043A>G	NM_001164462.1	NP_001157934.1:p.(Asp1348Gly)	NC_000007.13:g.100637887A>G	(Likely) benign	1 lab	aec1628624
3:38655540 SCN5A A>G	3	38655540	38655540	A	G	SCN5A	c.629T>C	NM_001099404.2	NP_001092874.1:p.(Ile210Thr)	NC_000003.11:g.38655540A>G	VUS	1 lab	aec1ffc912
X:152771081 BGN G>A	X	152771081	152771081	G	A	BGN	c.352-240G>A	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771081G>A	(Likely) benign	1 lab	aec41cfca1
10:112540655 RBM20 C>G	10	112540655	112540655	C	G	RBM20	c.288C>G	NM_001134363.3	NP_001127835.2:p.(Ala96=)	NC_000010.10:g.112540655C>G	(Likely) benign	1 lab	aec75585b3
20:744382 SLC52A3 G>A	20	744382	744382	G	A	SLC52A3	c.833C>T	NM_033409.4	NP_212134.3:p.(Thr278Met)	NC_000020.10:g.744382G>A	(Likely) benign	1 lab	aec7883293
11:47366850 MYBPC3 C>T	11	47366850	47366850	C	T	MYBPC3	c.1090+908G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366850C>T	(Likely) benign	1 lab	aec898d9d4
18:50690708 DCC Ref too long to show for this DEL>T	18	50690708	50707972	Ref too long to show for this DEL	T	DCC	c.1418+6827_1573+2486del	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50690709_50707972del	VUS	1 lab	aec8ca6575
1:35251735 GJB3 G>C	1	35251735	35251735	G	C	GJB3	c.*559G>C	NM_024009.3	NP_076872.1:p.?	NC_000001.10:g.35251735G>C	(Likely) benign	1 lab	aed0e2d23d
12:6920336 MISSING Ref too long to show for this DEL>C	12	6920336	6981375	Ref too long to show for this DEL	C	MISSING				NC_000012.11:g.6920339_6981375del	VUS	1 lab	aedb991bef
2:179441922 TTN A>G	2	179441922	179441922	A	G	TTN	c.69140T>C	NM_001267550.2	NP_001254479.2:p.(Val23047Ala)	NC_000002.11:g.179441922A>G	VUS	1 lab	aeee701246
20:10622296 JAG1 C>T	20	10622296	10622296	C	T	JAG1	c.2728G>A	NM_000214.3	NP_000205.1:p.(Glu910Lys)	NC_000020.10:g.10622296C>T	(Likely) benign	1 lab	aeefdf9e3e
8:145584731 SLC52A2 A>G	8	145584731	145584731	A	G	SLC52A2	n.1854A>G	NR_045600.2		NC_000008.10:g.145584731A>G	(Likely) benign	1 lab	aef23ad0a5
2:179468624 TTN C>T	2	179468624	179468624	C	T	TTN	c.47086G>A	NM_133378.4	NP_596869.4:p.(Glu15696Lys)	NC_000002.11:g.179468624C>T	VUS	1 lab	aef6cb8be7
3:38783877 SCN10A T>A	3	38783877	38783877	T	A	SCN10A	c.2011A>T	NM_006514.4	NP_006505.4:p.(Ile671Phe)	NC_000003.11:g.38783877T>A	VUS	1 lab	aefba7efd1
7:11155990 MISSING G>Alt too long to show for this DUP	7	11155990	11318927	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.11155992_11318927dup	VUS	1 lab	aefc507eec
12:21355435 SLCO1B1 C>T	12	21355435	21355435	C	T	SLCO1B1	c.1146C>T	NM_006446.5	NP_006437.3:p.(Thr382=)	NC_000012.11:g.21355435C>T	(Likely) benign	1 lab	af064456e2
2:48026106 MSH6 C>T	2	48026106	48026106	C	T	MSH6	c.984C>T	NM_000179.3	NP_000170.1:p.(Ser328=)	NC_000002.11:g.48026106C>T	(Likely) benign	1 lab	af08ccfbf7
7:75932053 HSPB1 C>T	7	75932053	75932053	C	T	HSPB1	c.24C>T	NM_001540.5	NP_001531.1:p.(Phe8=)	NC_000007.13:g.75932053C>T	(Likely) benign	1 lab	af09956621
19:40901484 PRX G>A	19	40901484	40901484	G	A	PRX	c.2775C>T	NM_181882.3	NP_870998.2:p.(Val925=)	NC_000019.9:g.40901484G>A	(Likely) benign	1 lab	af0a6dfd0e
9:107620299 ABCA1 C>T	9	107620299	107620299	C	T	ABCA1	c.720+504G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107620299C>T	(Likely) benign	1 lab	af0d655e71
1:235543476 TBCE TTGTGTGTGTGTGTGTGTGTGTGTG>T	1	235543476	235543529	TTGTGTGTGTGTGTGTGTGTGTGTG	T	TBCE	c.100+42_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543506_235543529del	(Likely) benign	1 lab	af107c3cbf
10:30638208 MTPAP TAA>T	10	30638208	30638230	TAA	T	MTPAP				NC_000010.10:g.30638229_30638230del	(Likely) benign	1 lab	af1197610f
9:107556710 ABCA1 T>C	9	107556710	107556710	T	C	ABCA1	c.5464A>G	NM_005502.4	NP_005493.2:p.(Met1822Val)	NC_000009.11:g.107556710T>C	VUS	1 lab	af1dd94560
22:50906103 SBF1 T>G	22	50906103	50906103	T	G	SBF1	c.296A>C	NM_002972.4	NP_002963.2:p.(Glu99Ala)	NC_000022.10:g.50906103T>G	(Likely) benign	1 lab	af202edf9b
20:19970888 RIN2 G>A	20	19970888	19970888	G	A	RIN2	c.2148G>A	NM_001242581.2	NP_001229510.1:p.(Pro716=)	NC_000020.10:g.19970888G>A	(Likely) benign	1 lab	af27e0172b
11:68191125 LRP5 C>T	11	68191125	68191125	C	T	LRP5	c.3196C>T	NM_002335.4	NP_002326.2:p.(Arg1066Cys)	NC_000011.9:g.68191125C>T	VUS	1 lab	af29602230
2:73651954 ALMS1 T>C	2	73651954	73651954	T	C	ALMS1	c.1164T>C	NM_015120.4	NP_055935.4:p.(His388=)	NC_000002.11:g.73651954T>C	(Likely) benign	1 lab	af29a54ac6
8:24810383 NEFL T>TC	8	24810383	24810384	T	TC	NEFL	c.1571_1572insG	NM_006158.5	NP_006149.2:p.(Glu525ArgfsTer7)	NC_000008.10:g.24810383_24810384insC	(Likely) benign	1 lab	af2c571429
19:40903788 PRX C>T	19	40903788	40903788	C	T	PRX	c.471G>A	NM_181882.3	NP_870998.2:p.(Glu157=)	NC_000019.9:g.40903788C>T	(Likely) benign	1 lab	af30db8211
4:106359199 PPA2 A>T	4	106359199	106359199	A	T	PPA2	c.442-6T>A	NM_176869.3	NP_789845.1:p.?	NC_000004.11:g.106359199A>T	(Likely) benign	1 lab	af33dad2c1
6:7583296 DSP G>A	6	7583296	7583296	G	A	DSP	c.5801G>A	NM_004415.4	NP_004406.2:p.(Arg1934Gln)	NC_000006.11:g.7583296G>A	VUS	1 lab	af36db7b87
9:35059794 VCP C>T	9	35059794	35059794	C	T	VCP	c.1700G>A	NM_007126.5	NP_009057.1:p.(Arg567His)	NC_000009.11:g.35059794C>T	VUS	1 lab	af37152bdf
1:182763575 NPL GT>G	1	182763575	182763576	GT	G	NPL	c.68+2del	NM_030769.3	NP_110396.1:p.?	NC_000001.10:g.182763576del	(Likely) pathogenic	1 lab	af3b6bf264
X:10463659 MID1 G>A	X	10463659	10463659	G	A	MID1	c.829C>T	NM_000381.4	NP_000372.1:p.(Arg277Ter)	NC_000023.10:g.10463659G>A	(Likely) pathogenic	1 lab	af4682f436
1:235543476 TBCE TTGTGTG>T	1	235543476	235543529	TTGTGTG	T	TBCE	c.100+60_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543524_235543529del	(Likely) benign	1 lab	af528f1e45
2:15514832 NBAS T>C	2	15514832	15514832	T	C	NBAS	c.3603A>G	NM_015909.4	NP_056993.2:p.(Gln1201=)	NC_000002.11:g.15514832T>C	VUS	1 lab	af537153fe
2:179452904 TTN G>A	2	179452904	179452904	G	A	TTN	c.63230C>T	NM_001267550.2	NP_001254479.2:p.(Thr21077Ile)	NC_000002.11:g.179452904G>A	VUS	1 lab	af554c6486
3:48631978 COL7A1 G>A	3	48631978	48631978	G	A	COL7A1	c.89C>T	NM_000094.4	NP_000085.1:p.(Thr30Ile)	NC_000003.11:g.48631978G>A	(Likely) benign	1 lab	af603a1b06
2:179480431 TTN T>A	2	179480431	179480431	T	A	TTN	c.48397A>T	NM_001267550.2	NP_001254479.2:p.(Asn16133Tyr)	NC_000002.11:g.179480431T>A	VUS	1 lab	af630912d0
5:54529019 CCNO CG>C	5	54529019	54529020	CG	C	CCNO	c.332del	NM_021147.5	NP_066970.3:p.(Ala111GlyfsTer18)	NC_000005.9:g.54529020del	(Likely) pathogenic	1 lab	af7176f904
8:3497201 CSMD1 Ref too long to show for this DEL>A	8	3497201	3648297	Ref too long to show for this DEL	A	CSMD1	c.819-36733_1010-22883del	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3497202_3648297del	VUS	1 lab	af77b7ed6d
18:25593636 CDH2 G>A	18	25593636	25593636	G	A	CDH2	c.399+11C>T	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25593636G>A	(Likely) benign	1 lab	af7ea23aa8
11:118513049 PHLDB1 C>T	11	118513049	118513049	C	T	PHLDB1	c.2814C>T	NM_015157.4	NP_055972.1:p.(Pro938=)	NC_000011.9:g.118513049C>T	(Likely) benign	1 lab	af8087bc54
6:7582952 DSP CA>C	6	7582952	7582955	CA	C	DSP	c.5460del	NM_004415.4	NP_004406.2:p.(Val1821SerfsTer16)	NC_000006.11:g.7582955del	(Likely) pathogenic	1 lab	af865051df
12:125323776 SCARB1 C>T	12	125323776	125323776	C	T	SCARB1	c.127-21523G>A	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125323776C>T	VUS	1 lab	af87f05a21
22:46762266 CELSR1 C>T	22	46762266	46762266	C	T	CELSR1	c.8300+17G>A	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46762266C>T	(Likely) benign	1 lab	af94e7a134
15:58834539 LIPC A>C	15	58834539	58834539	A	C	LIPC	c.457-194A>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834539A>C	(Likely) benign	1 lab	af9fd444ac
17:1582890 PRPF8 G>A	17	1582890	1582890	G	A	PRPF8	c.1289+13C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1582890G>A	(Likely) benign	1 lab	afa2f270ab
16:3580590 CLUAP1 C>T	16	3580590	3580590	C	T	CLUAP1	c.951C>T	NM_001330454.2	NP_001317383.1:p.(Asp317=)	NC_000016.9:g.3580590C>T	(Likely) benign	1 lab	afa4694c35
2:238285445 COL6A3 T>C	2	238285445	238285445	T	C	COL6A3	c.3040A>G	NM_004369.4	NP_004360.2:p.(Lys1014Glu)	NC_000002.11:g.238285445T>C	VUS	1 lab	afa7bddc24
10:71038473 HK1 A>AT	10	71038473	71038479	A	AT	HK1	c.-258dup	NM_001358263.1	NP_001345192.1:p.?	NC_000010.10:g.71038479dup	(Likely) benign	1 lab	afaa036d7b
1:55522425 PCSK9 G>A	1	55522425	55522425	G	A	PCSK9	c.996+563G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55522425G>A	(Likely) benign	1 lab	afac785ed2
15:58834161 LIPC C>T	15	58834161	58834161	C	T	LIPC	c.451C>T	NM_000236.3	NP_000227.2:p.(Leu151=)	NC_000015.9:g.58834161C>T	(Likely) benign	1 lab	afaf583a65
1:63068013 ANGPTL3 C>T	1	63068013	63068013	C	T	ANGPTL3	c.893C>T	NM_014495.4	NP_055310.1:p.(Thr298Met)	NC_000001.10:g.63068013C>T	VUS	1 lab	afb8e0b482
1:101203698 VCAM1 C>T	1	101203698	101203698	C	T	VCAM1	c.2079C>T	NM_001078.4	NP_001069.1:p.(Asp693=)	NC_000001.10:g.101203698C>T	(Likely) benign	1 lab	afbc8eb51e
1:236914781 ACTN2 T>G	1	236914781	236914781	T	G	ACTN2	c.1044T>G	NM_001278344.2	NP_001265273.1:p.(Thr348=)	NC_000001.10:g.236914781T>G	(Likely) benign	1 lab	afbe91787f
2:215593508 BARD1 C>T	2	215593508	215593508	C	T	BARD1	c.2226G>A	NM_000465.4	NP_000456.2:p.(Leu742=)	NC_000002.11:g.215593508C>T	(Likely) benign	1 lab	afc85516b9
18:77489085 CTDP1 G>A	18	77489085	77489085	G	A	CTDP1	c.2580+16G>A	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77489085G>A	(Likely) benign	1 lab	afcad423f3
2:179585407 TTN G>A	2	179585407	179585407	G	A	TTN	c.23099-17C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179585407G>A	(Likely) benign	1 lab	afcd8eb0de
15:45403787 DUOX2 C>T	15	45403787	45403787	C	T	DUOX2	c.514-4G>A	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45403787C>T	(Likely) benign	1 lab	afd06e5840
2:203242196 BMPR2 G>A	2	203242196	203242196	G	A	BMPR2	c.-2G>A	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203242196G>A	(Likely) benign	1 lab	afd1ddea60
7:75933169 HSPB1 A>G	7	75933169	75933169	A	G	HSPB1	c.415A>G	NM_001540.5	NP_001531.1:p.(Thr139Ala)	NC_000007.13:g.75933169A>G	VUS	1 lab	afd6127fee
6:32011358 TNXB A>G	6	32011358	32011358	A	G	TNXB	c.11525-25T>C	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32011358A>G	(Likely) benign	1 lab	afd7688e84
9:101894856 TGFBR1 G>A	9	101894856	101894856	G	A	TGFBR1	c.409G>A	NM_004612.4	NP_004603.1:p.(Val137Ile)	NC_000009.11:g.101894856G>A	VUS	1 lab	afda497134
10:126678208 CTBP2 A>G	10	126678208	126678208	A	G	CTBP2	c.2837T>C	NM_022802.3	NP_073713.2:p.(Ile946Thr)	NC_000010.10:g.126678208A>G	(Likely) benign	1 lab	afdc68aa15
5:89933644 ADGRV1 A>T	5	89933644	89933644	A	T	ADGRV1	c.2119A>T	NM_032119.4	NP_115495.3:p.(Ile707Leu)	NC_000005.9:g.89933644A>T	(Likely) benign	1 lab	afe5f3ac72
9:33798016 PRSS3 C>T	9	33798016	33798016	C	T	PRSS3	c.432C>T	NM_001197097.3	NP_001184026.3:p.(Thr144=)	NC_000009.11:g.33798016C>T	(Likely) benign	1 lab	afe91be448
1:103343558 COL11A1 T>C	1	103343558	103343558	T	C	COL11A1	c.*17A>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103343558T>C	(Likely) benign	1 lab	afe935175b
11:119210896 C1QTNF5 G>C	11	119210896	119210896	G	C	C1QTNF5	c.212C>G	NM_015645.5	NP_056460.1:p.(Pro71Arg)	NC_000011.9:g.119210896G>C	VUS	1 lab	afebd01478
3:179131512 GNB4 T>A	3	179131512	179131512	T	A	GNB4	c.488A>T	NM_021629.4	NP_067642.1:p.(Asp163Val)	NC_000003.11:g.179131512T>A	VUS	1 lab	afef09dee7
14:32110535 MISSING T>Alt too long to show for this DUP	14	32110535	32599329	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.32110536_32599329dup	VUS	1 lab	aff489495f
3:38616675 SCN5A C>A	3	38616675	38616675	C	A	SCN5A	c.3666+113G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38616675C>A	(Likely) benign	1 lab	aff6244c28
2:21229722 APOB C>A	2	21229722	21229722	C	A	APOB	c.10018G>T	NM_000384.3	NP_000375.3:p.(Asp3340Tyr)	NC_000002.11:g.21229722C>A	VUS	1 lab	aff6b3d8b7
6:112480041 LAMA4 A>G	6	112480041	112480041	A	G	LAMA4	c.1710T>C	NM_001105206.3	NP_001098676.2:p.(Ser570=)	NC_000006.11:g.112480041A>G	(Likely) benign	1 lab	aff6f8519e
7:104753026 KMT2E A>AT	7	104753026	104753032	A	AT	KMT2E	c.4829dup	NM_182931.3	NP_891847.1:p.(Leu1610PhefsTer259)	NC_000007.13:g.104753032dup	(Likely) pathogenic	1 lab	affa7039f6
14:23853735 MYH6 C>A	14	23853735	23853735	C	A	MYH6	c.5481G>T	NM_002471.4	NP_002462.2:p.(Glu1827Asp)	NC_000014.8:g.23853735C>A	VUS	1 lab	affeb0ff84
8:8672436 MFHAS1 Ref too long to show for this DEL>G	8	8672436	8674512	Ref too long to show for this DEL	G	MFHAS1	c.2999-19511_2999-17436del	NM_004225.3	NP_004216.2:p.?	NC_000008.10:g.8672437_8674512del	VUS	1 lab	affedcb90c
18:47095882 LIPG G>C	18	47095882	47095882	G	C	LIPG	c.535G>C	NM_006033.4	NP_006024.1:p.(Gly179Arg)	NC_000018.9:g.47095882G>C	VUS	1 lab	afff7ca33d
12:125292447 SCARB1 G>A	12	125292447	125292447	G	A	SCARB1	c.869C>T	NM_005505.5	NP_005496.4:p.(Ser290Leu)	NC_000012.11:g.125292447G>A	VUS	1 lab	b001cc9d32
2:47600581 EPCAM AT>A	2	47600581	47600591	AT	A	EPCAM	c.77-11del	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47600591del	(Likely) benign	1 lab	b00532513c
16:11645626 LITAF T>C	16	11645626	11645626	T	C	LITAF	c.412A>G	NM_001136473.1	NP_001129945.1:p.(Ser138Gly)	NC_000016.9:g.11645626T>C	(Likely) benign	1 lab	b006d30821
21:47655302 MCM3AP C>G	21	47655302	47655302	C	G	MCM3AP	c.5823G>C	NM_003906.5	NP_003897.2:p.(Ala1941=)	NC_000021.8:g.47655302C>G	(Likely) benign	1 lab	b007ff5aa8
12:5021841 KCNA1 C>T	12	5021841	5021841	C	T	KCNA1	c.1297C>T	NM_000217.3	NP_000208.2:p.(Pro433Ser)	NC_000012.11:g.5021841C>T	VUS	1 lab	b00a762221
1:10431217 KIF1B A>G	1	10431217	10431217	A	G	KIF1B	c.4843A>G	NM_001365951.3	NP_001352880.1:p.(Ile1615Val)	NC_000001.10:g.10431217A>G	(Likely) benign	1 lab	b00af1ecd7
2:21236404 APOB C>T	2	21236404	21236404	C	T	APOB	c.3844G>A	NM_000384.3	NP_000375.3:p.(Asp1282Asn)	NC_000002.11:g.21236404C>T	VUS	1 lab	b00c808632
16:88497809 ZNF469 C>T	16	88497809	88497809	C	T	ZNF469	c.3931C>T	NM_001367624.2	NP_001354553.1:p.(Pro1311Ser)	NC_000016.9:g.88497809C>T	(Likely) benign	1 lab	b014e36e89
7:128494645 FLNC T>C	7	128494645	128494645	T	C	FLNC	c.6906T>C	NM_001458.5	NP_001449.3:p.(Phe2302=)	NC_000007.13:g.128494645T>C	(Likely) benign	1 lab	b017987569
8:41798412 KAT6A C>CT	8	41798412	41798415	C	CT	KAT6A	c.2986dup	NM_006766.5	NP_006757.2:p.(Ser996LysfsTer36)	NC_000008.10:g.41798415dup	(Likely) pathogenic	1 lab	b01a753ee7
8:75272450 GDAP1 C>G	8	75272450	75272450	C	G	GDAP1	c.389C>G	NM_018972.4	NP_061845.2:p.(Ser130Cys)	NC_000008.10:g.75272450C>G	(Likely) pathogenic	1 lab	b01e6cefb0
14:96788509 ATG2B G>GT	14	96788509	96788510	G	GT	ATG2B	c.2818dup	NM_018036.7	NP_060506.6:p.(Thr940AsnfsTer11)	NC_000014.8:g.96788510dup	VUS	1 lab	b023a19e06
2:179397908 TTN G>T	2	179397908	179397908	G	T	TTN	c.103434C>A	NM_001267550.2	NP_001254479.2:p.(Asp34478Glu)	NC_000002.11:g.179397908G>T	VUS	1 lab	b027d25439
1:173931045 RC3H1 G>A	1	173931045	173931045	G	A	RC3H1	c.2020C>T	NM_001300850.1	NP_001287779.1:p.(Arg674Ter)	NC_000001.10:g.173931045G>A	VUS	1 lab	b02eeebf00
9:107571755 ABCA1 G>A	9	107571755	107571755	G	A	ABCA1	c.4266C>T	NM_005502.4	NP_005493.2:p.(Asn1422=)	NC_000009.11:g.107571755G>A	(Likely) benign	1 lab	b033e3a662
X:53084652 MISSING Ref too long to show for this DEL>T	X	53084652	53396304	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.53084654_53396304del	(Likely) pathogenic	1 lab	b034c40b0e
14:23896430 MYH7 G>A	14	23896430	23896430	G	A	MYH7	c.1956+19C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23896430G>A	(Likely) benign	1 lab	b03702cf1c
19:10085054 COL5A3 G>A	19	10085054	10085054	G	A	COL5A3	c.3373C>T	NM_015719.4	NP_056534.2:p.(Pro1125Ser)	NC_000019.9:g.10085054G>A	(Likely) benign	1 lab	b0372a2bb0
10:112543025 RBM20 C>T	10	112543025	112543025	C	T	RBM20	c.1276-99C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112543025C>T	(Likely) benign	1 lab	b03809c69d
2:179499237 TTN T>G	2	179499237	179499237	T	G	TTN	c.42271A>C	NM_001267550.2	NP_001254479.2:p.(Ile14091Leu)	NC_000002.11:g.179499237T>G	VUS	1 lab	b03a34d719
8:134128965 TG G>C	8	134128965	134128965	G	C	TG	c.7862+5G>C	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134128965G>C	VUS	1 lab	b03acea7f2
13:32953881 BRCA2 A>G	13	32953881	32953881	A	G	BRCA2	c.8954-6A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953881A>G	(Likely) benign	1 lab	b03ada7cdd
7:150655521 KCNH2 C>T	7	150655521	150655521	C	T	KCNH2	c.542G>A	NM_000238.4	NP_000229.1:p.(Arg181Gln)	NC_000007.13:g.150655521C>T	(Likely) benign	1 lab	b03b398a50
2:21234130 APOB T>C	2	21234130	21234130	T	C	APOB	c.5610A>G	NM_000384.3	NP_000375.3:p.(Thr1870=)	NC_000002.11:g.21234130T>C	(Likely) benign	1 lab	b03dae69eb
6:7580944 DSP A>T	6	7580944	7580944	A	T	DSP	c.4521A>T	NM_004415.4	NP_004406.2:p.(Leu1507Phe)	NC_000006.11:g.7580944A>T	VUS	1 lab	b041a9a062
18:25583129 CDH2 T>C	18	25583129	25583129	T	C	CDH2	c.852A>G	NM_001792.5	NP_001783.2:p.(Thr284=)	NC_000018.9:g.25583129T>C	VUS	1 lab	b047f719ad
6:80197069 LCA5 G>A	6	80197069	80197069	G	A	LCA5	c.1746C>T	NM_181714.4	NP_859065.2:p.(Asn582=)	NC_000006.11:g.80197069G>A	(Likely) benign	1 lab	b0499cbdbb
3:195510732 MUC4 G>C	3	195510732	195510732	G	C	MUC4	c.7719C>G	NM_018406.7	NP_060876.5:p.(His2573Gln)	NC_000003.11:g.195510732G>C	(Likely) benign	1 lab	b052a4a28d
17:16321898 MISSING Ref too long to show for this DEL>C	17	16321898	19787073	Ref too long to show for this DEL	C	MISSING				NC_000017.10:g.16321901_19787073del	(Likely) pathogenic	1 lab	b053374ea5
7:128493703 FLNC G>A	7	128493703	128493703	G	A	FLNC	c.6361+28G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128493703G>A	(Likely) benign	1 lab	b05412a132
9:103046654 INVS C>T	9	103046654	103046654	C	T	INVS	c.1837C>T	NM_014425.5	NP_055240.2:p.(Arg613Trp)	NC_000009.11:g.103046654C>T	VUS	1 lab	b056cf9a79
6:7569780 DSP A>G	6	7569780	7569780	A	G	DSP	c.1574+207A>G	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7569780A>G	(Likely) benign	1 lab	b06435ec0a
9:107603043 ABCA1 G>A	9	107603043	107603043	G	A	ABCA1	c.814-243C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107603043G>A	(Likely) benign	1 lab	b069fde54e
5:112137023 APC G>T	5	112137023	112137023	G	T	APC	c.777G>T	NM_000038.6	NP_000029.2:p.(Arg259=)	NC_000005.9:g.112137023G>T	(Likely) benign	1 lab	b0703691ea
1:3342806 PRDM16 G>A	1	3342806	3342806	G	A	PRDM16	c.3284+17G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3342806G>A	(Likely) benign	1 lab	b077badac4
2:179474196 TTN A>G	2	179474196	179474196	A	G	TTN	c.44137T>C	NM_133378.4	NP_596869.4:p.(Trp14713Arg)	NC_000002.11:g.179474196A>G	VUS	1 lab	b07a7a420a
3:81698131 GBE1 G>A	3	81698131	81698131	G	A	GBE1	c.567C>T	NM_000158.4	NP_000149.4:p.(Ser189=)	NC_000003.11:g.81698131G>A	(Likely) benign	1 lab	b07bb7498c
5:156817533 CYFIP2 T>C	5	156817533	156817533	T	C	CYFIP2	c.3451T>C	NM_014376.4	NP_055191.2:p.(Cys1151Arg)	NC_000005.9:g.156817533T>C	VUS	1 lab	b07c58a9bf
2:25469613 DNMT3A C>T	2	25469613	25469613	C	T	DNMT3A	c.1155G>A	NM_022552.5	NP_072046.2:p.(Pro385=)	NC_000002.11:g.25469613C>T	(Likely) benign	1 lab	b0822ca733
19:45452260 APOC2 GC>G	19	45452260	45452265	GC	G	APOC2	c.215+148del	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45452265del	(Likely) benign	1 lab	b0840eba9c
4:187131696 CYP4V2 C>T	4	187131696	187131696	C	T	CYP4V2	c.1479C>T	NM_207352.4	NP_997235.3:p.(Asn493=)	NC_000004.11:g.187131696C>T	(Likely) benign	1 lab	b08542fb83
14:23897795 MYH7 G>C	14	23897795	23897795	G	C	MYH7	c.1492C>G	NM_000257.4	NP_000248.2:p.(Gln498Glu)	NC_000014.8:g.23897795G>C	VUS	1 lab	b085cf6dcd
17:4365240 MISSING C>Alt too long to show for this DUP	17	4365240	4511216	C	Alt too long to show for this DUP	MISSING				NC_000017.10:g.4365241_4511216dup	VUS	1 lab	b085f0772e
14:23871981 MYH6 G>A	14	23871981	23871981	G	A	MYH6	c.927C>T	NM_002471.4	NP_002462.2:p.(Tyr309=)	NC_000014.8:g.23871981G>A	(Likely) benign	1 lab	b087af54a3
2:21231606 APOB G>A	2	21231606	21231606	G	A	APOB	c.8134C>T	NM_000384.3	NP_000375.3:p.(Arg2712Cys)	NC_000002.11:g.21231606G>A	(Likely) benign	1 lab	b08899a5d2
1:1168135 B3GALT6 C>T	1	1168135	1168135	C	T	B3GALT6	c.477C>T	NM_080605.4	NP_542172.2:p.(Ser159=)	NC_000001.10:g.1168135C>T	(Likely) benign	1 lab	b08f15019c
11:108203726 ATM C>T	11	108203726	108203726	C	T	ATM	c.7927+99C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108203726C>T	(Likely) benign	1 lab	b08fb5352b
15:58860943 LIPC G>A	15	58860943	58860943	G	A	LIPC	c.1417G>A	NM_000236.3	NP_000227.2:p.(Asp473Asn)	NC_000015.9:g.58860943G>A	(Likely) benign	1 lab	b09190d0f5
9:79836122 VPS13A C>T	9	79836122	79836122	C	T	VPS13A	c.1011C>T	NM_033305.3	NP_150648.2:p.(Gly337=)	NC_000009.11:g.79836122C>T	(Likely) benign	1 lab	b0929492c3
X:12937668 TLR8 T>C	X	12937668	12937668	T	C	TLR8	c.563T>C	NM_016610.4	NP_057694.2:p.(Ile188Thr)	NC_000023.10:g.12937668T>C	VUS	1 lab	b094077391
12:115042284 MISSING G>Alt too long to show for this DUP	12	115042284	115412477	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.115042286_115412477dup	VUS	1 lab	b094239d3b
9:33796721 PRSS3 C>T	9	33796721	33796721	C	T	PRSS3	c.163C>T	NM_001197097.3	NP_001184026.3:p.(Leu55=)	NC_000009.11:g.33796721C>T	(Likely) benign	1 lab	b09912c818
13:50140758 RCBTB1 G>A	13	50140758	50140758	G	A	RCBTB1	c.273C>T	NM_018191.4	NP_060661.3:p.(Thr91=)	NC_000013.10:g.50140758G>A	(Likely) benign	1 lab	b099fb61a3
5:133948331 SAR1B T>TAAAAAAAAAAAAAAAA	5	133948331	133948371	T	TAAAAAAAAAAAAAAAA	SAR1B	c.244+34_244+49dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948356_133948371dup	(Likely) benign	1 lab	b0a1a82491
17:59543151 TBX4 C>G	17	59543151	59543151	C	G	TBX4	c.282-29C>G	NM_001321120.2	NP_001308049.1:p.?	NC_000017.10:g.59543151C>G	VUS	1 lab	b0a6d5a2bf
2:179628980 TTN G>A	2	179628980	179628980	G	A	TTN	c.10038C>T	NM_001267550.2	NP_001254479.2:p.(Ala3346=)	NC_000002.11:g.179628980G>A	(Likely) benign	1 lab	b0ab8ec5c2
4:141074808 MISSING C>Alt too long to show for this DUP	4	141074808	141312588	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.141074812_141312588dup	VUS	1 lab	b0abef53a3
16:67976438 LCAT G>A	16	67976438	67976438	G	A	LCAT	c.576C>T	NM_000229.2	NP_000220.1:p.(His192=)	NC_000016.9:g.67976438G>A	(Likely) benign	1 lab	b0b343e60a
7:75354111 MISSING Ref too long to show for this DEL>A	7	75354111	75438857	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.75354112_75438857del	(Likely) pathogenic	1 lab	b0b69aeba1
5:10265277 CCT5 C>T	5	10265277	10265277	C	T	CCT5	c.*382C>T	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10265277C>T	(Likely) benign	1 lab	b0bbbd56a2
2:111392196 MISSING Ref too long to show for this DEL>C	2	111392196	111452047	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.111392198_111452047del	VUS	1 lab	b0c35c12ed
17:40690500 NAGLU G>T	17	40690500	40690500	G	T	NAGLU	c.675G>T	NM_000263.4	NP_000254.2:p.(Leu225=)	NC_000017.10:g.40690500G>T	(Likely) benign	1 lab	b0c59ca3ec
11:84395108 DLG2 Ref too long to show for this DEL>T	11	84395108	84477088	Ref too long to show for this DEL	T	DLG2	c.358-231313_358-149335del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84395110_84477088del	VUS	1 lab	b0c95a9207
9:103015347 INVS T>C	9	103015347	103015347	T	C	INVS	c.1393T>C	NM_014425.5	NP_055240.2:p.(Tyr465His)	NC_000009.11:g.103015347T>C	VUS	1 lab	b0d177161c
6:7580789 DSP C>T	6	7580789	7580789	C	T	DSP	c.4366C>T	NM_004415.4	NP_004406.2:p.(Gln1456Ter)	NC_000006.11:g.7580789C>T	(Likely) pathogenic	1 lab	b0d4b6f0fa
3:38640371 SCN5A G>A	3	38640371	38640371	G	A	SCN5A	c.2023+38C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38640371G>A	(Likely) benign	1 lab	b0d584aced
16:81385256 GAN C>T	16	81385256	81385256	C	T	GAN	c.236C>T	NM_022041.4	NP_071324.1:p.(Ser79Leu)	NC_000016.9:g.81385256C>T	(Likely) pathogenic	1 lab	b0dea31f51
14:23855689 MYH6 C>T	14	23855689	23855689	C	T	MYH6	c.4794G>A	NM_002471.4	NP_002462.2:p.(Ser1598=)	NC_000014.8:g.23855689C>T	(Likely) benign	1 lab	b0e3b77937
2:179595391 TTN G>C	2	179595391	179595391	G	C	TTN	c.17869C>G	NM_001267550.2	NP_001254479.2:p.(Gln5957Glu)	NC_000002.11:g.179595391G>C	VUS	1 lab	b0e4a52697
2:21224678 APOB A>G	2	21224678	21224678	A	G	APOB	c.13616T>C	NM_000384.3	NP_000375.3:p.(Leu4539Pro)	NC_000002.11:g.21224678A>G	VUS	1 lab	b0e8a94820
14:102492904 DYNC1H1 T>C	14	102492904	102492904	T	C	DYNC1H1	c.8638-7T>C	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102492904T>C	(Likely) benign	1 lab	b0eb136f3d
14:51080038 ATL1 G>T	14	51080038	51080038	G	T	ATL1	c.692G>T	NM_001127713.1	NP_001121185.1:p.(Gly231Val)	NC_000014.8:g.51080038G>T	VUS	1 lab	b0fc6827b7
10:67726368 CTNNA3 A>C	10	67726368	67726368	A	C	CTNNA3	c.2400+2T>G	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67726368A>C	VUS	1 lab	b0fca9c134
7:128412709 OPN1SW T>C	7	128412709	128412709	T	C	OPN1SW	c.923A>G	NM_001385125.1	NP_001372054.1:p.(Gln308Arg)	NC_000007.13:g.128412709T>C	(Likely) benign	1 lab	b0fde1380a
15:58840535 LIPC C>T	15	58840535	58840535	C	T	LIPC	c.815C>T	NM_000236.3	NP_000227.2:p.(Thr272Ile)	NC_000015.9:g.58840535C>T	VUS	1 lab	b102b5acff
22:38509658 PLA2G6 G>C	22	38509658	38509658	G	C	PLA2G6	c.2038C>G	NM_003560.4	NP_003551.2:p.(Gln680Glu)	NC_000022.10:g.38509658G>C	VUS	1 lab	b1117798ab
11:65637629 EFEMP2 C>T	11	65637629	65637629	C	T	EFEMP2	c.570G>A	NM_016938.5	NP_058634.4:p.(Pro190=)	NC_000011.9:g.65637629C>T	(Likely) benign	1 lab	b11529cf9d
6:73043533 RIMS1 A>C	6	73043533	73043533	A	C	RIMS1	c.4361A>C	NM_014989.6	NP_055804.2:p.(Gln1454Pro)	NC_000006.11:g.73043533A>C	VUS	1 lab	b11787d6f7
6:44232716 NFKBIE C>T	6	44232716	44232716	C	T	NFKBIE	c.365+3G>A	NM_004556.3	NP_004547.3:p.?	NC_000006.11:g.44232716C>T	(Likely) benign	1 lab	b117b46005
2:179480048 TTN A>G	2	179480048	179480048	A	G	TTN	c.48624T>C	NM_001267550.2	NP_001254479.2:p.(Pro16208=)	NC_000002.11:g.179480048A>G	(Likely) benign	1 lab	b11a3f428e
15:93510580 CHD2 G>T	15	93510580	93510580	G	T	CHD2	c.2026G>T	NM_001271.4	NP_001262.3:p.(Glu676Ter)	NC_000015.9:g.93510580G>T	(Likely) pathogenic	1 lab	b1225cb93a
3:70005640 MITF C>T	3	70005640	70005640	C	T	MITF	c.972C>T	NM_198159.3	NP_937802.1:p.(Arg324=)	NC_000003.11:g.70005640C>T	(Likely) benign	1 lab	b124630c24
20:42744470 JPH2 T>G	20	42744470	42744470	T	G	JPH2	c.1845A>C	NM_020433.5	NP_065166.2:p.(Ala615=)	NC_000020.10:g.42744470T>G	(Likely) benign	1 lab	b125cfc593
2:21235375 APOB G>A	2	21235375	21235375	G	A	APOB	c.4365C>T	NM_000384.3	NP_000375.3:p.(Phe1455=)	NC_000002.11:g.21235375G>A	(Likely) benign	1 lab	b13681fded
12:125292675 SCARB1 T>C	12	125292675	125292675	T	C	SCARB1	c.843-202A>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125292675T>C	(Likely) benign	1 lab	b138e7451e
22:50902865 SBF1 T>C	22	50902865	50902865	T	C	SBF1	c.1642A>G	NM_002972.4	NP_002963.2:p.(Ile548Val)	NC_000022.10:g.50902865T>C	VUS	1 lab	b13b3cbe5c
X:49066239 CACNA1F G>A	X	49066239	49066239	G	A	CACNA1F	c.4724-20C>T	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49066239G>A	(Likely) benign	1 lab	b1440774f4
1:237791143 RYR2 G>A	1	237791143	237791143	G	A	RYR2	c.6203G>A	NM_001035.3	NP_001026.2:p.(Arg2068Gln)	NC_000001.10:g.237791143G>A	VUS	1 lab	b145995768
21:35821822 KCNE1 G>A	21	35821822	35821822	G	A	KCNE1	c.111C>T	NM_001127670.4	NP_001121142.1:p.(Ser37=)	NC_000021.8:g.35821822G>A	(Likely) benign	1 lab	b150605646
10:126484109 MISSING A>Alt too long to show for this DUP	10	126484109	126647772	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.126484110_126647772dup	VUS	1 lab	b153c887c3
12:2511760 CACNA1C T>Alt too long to show for this DUP	12	2511760	2526454	T	Alt too long to show for this DUP	CACNA1C	c.478-46381_478-31688dup	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2511761_2526454dup	VUS	1 lab	b154f6b364
22:50900103 SBF1 C>T	22	50900103	50900103	C	T	SBF1	c.2688G>A	NM_002972.4	NP_002963.2:p.(Val896=)	NC_000022.10:g.50900103C>T	(Likely) benign	1 lab	b15fee71f1
1:55509574 PCSK9 C>T	1	55509574	55509574	C	T	PCSK9	c.266C>T	NM_174936.4	NP_777596.2:p.(Ser89Leu)	NC_000001.10:g.55509574C>T	VUS	1 lab	b1646187da
17:48431197 XYLT2 C>T	17	48431197	48431197	C	T	XYLT2	c.342C>T	NM_022167.4	NP_071450.2:p.(Pro114=)	NC_000017.10:g.48431197C>T	(Likely) benign	1 lab	b169c3b3a0
3:38753831 SCN10A C>A	3	38753831	38753831	C	A	SCN10A	c.3910G>T	NM_006514.4	NP_006505.4:p.(Ala1304Ser)	NC_000003.11:g.38753831C>A	VUS	1 lab	b16a3bd7f3
7:138593850 KIAA1549 G>A	7	138593850	138593850	G	A	KIAA1549	c.3163C>T	NM_001164665.2	NP_001158137.1:p.(Pro1055Ser)	NC_000007.13:g.138593850G>A	VUS	1 lab	b16a7c0131
15:20740292 GOLGA6L6 G>T	15	20740292	20740292	G	T	GOLGA6L6	c.1380G>A	NM_001145004.2	NP_001138476.2:p.(Arg460=)	NC_000015.9:g.20740292G>T	(Likely) benign	1 lab	b16df90d28
11:129775516 PRDM10 C>T	11	129775516	129775516	C	T	PRDM10	c.3279+17G>A	NM_020228.3	NP_064613.2:p.?	NC_000011.9:g.129775516C>T	(Likely) benign	1 lab	b16e5358bd
2:179391936 TTN C>T	2	179391936	179391936	C	T	TTN	c.107779G>A	NM_001267550.2	NP_001254479.2:p.(Glu35927Lys)	NC_000002.11:g.179391936C>T	VUS	1 lab	b171d6527e
11:121483518 SORL1 G>A	11	121483518	121483518	G	A	SORL1	c.5396G>A	NM_003105.6	NP_003096.2:p.(Arg1799Gln)	NC_000011.9:g.121483518G>A	(Likely) benign	1 lab	b174576ccd
1:25881468 LDLRAP1 G>C	1	25881468	25881468	G	C	LDLRAP1	c.344+5G>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25881468G>C	VUS	1 lab	b17824d73f
X:100652912 GLA C>G	X	100652912	100652912	C	G	GLA	c.1175G>C	NM_000169.3	NP_000160.1:p.(Arg392Thr)	NC_000023.10:g.100652912C>G	VUS	1 lab	b17ab6d83e
4:190947544 FRG2 G>C	4	190947544	190947544	G	C	FRG2	c.329C>G	NM_001286820.2	NP_001273749.1:p.(Thr110Arg)	NC_000004.11:g.190947544G>C	(Likely) benign	1 lab	b1825b9894
11:47359444 MYBPC3 G>GCCCCCC	11	47359444	47359450	G	GCCCCCC	MYBPC3	c.2309-100_2309-99insGGGGGG	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359449_47359450insCCCCCC	(Likely) benign	1 lab	b1825f35d0
2:179576927 TTN C>A	2	179576927	179576927	C	A	TTN	c.27630G>T	NM_001267550.2	NP_001254479.2:p.(Gln9210His)	NC_000002.11:g.179576927C>A	VUS	1 lab	b18396f273
X:46367511 ZNF674 G>Alt too long to show for this DUP	X	46367511	46407689	G	Alt too long to show for this DUP	ZNF674				NC_000023.10:g.46367512_46407689dup	VUS	1 lab	b18c26c2fd
2:175856888 CHN1 Ref too long to show for this DEL>T	2	175856888	175864784	Ref too long to show for this DEL	T	CHN1	c.19+4838_19+12733del	NM_001822.7	NP_001813.1:p.?	NC_000002.11:g.175856889_175864784del	VUS	1 lab	b18e9d3833
19:12760773 MAN2B1 C>T	19	12760773	12760773	C	T	MAN2B1	c.2221G>A	NM_000528.4	NP_000519.2:p.(Gly741Arg)	NC_000019.9:g.12760773C>T	(Likely) benign	1 lab	b192a734c6
9:35078226 FANCG C>T	9	35078226	35078226	C	T	FANCG	c.422G>A	NM_004629.2	NP_004620.1:p.(Arg141His)	NC_000009.11:g.35078226C>T	(Likely) benign	1 lab	b19315abbd
1:12010420 PLOD1 C>T	1	12010420	12010420	C	T	PLOD1	c.309C>T	NM_000302.4	NP_000293.2:p.(Asp103=)	NC_000001.10:g.12010420C>T	(Likely) benign	1 lab	b195337f21
12:50498110 GPD1 C>G	12	50498110	50498110	C	G	GPD1	c.41+236C>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50498110C>G	VUS	1 lab	b1976d543f
22:39627712 PDGFB CAG>C	22	39627712	39627714	CAG	C	PDGFB	c.369_370del	NM_002608.4	NP_002599.1:p.(Val125GlyfsTer41)	NC_000022.10:g.39627713_39627714del	(Likely) pathogenic	1 lab	b19de798ea
14:23876339 MYH6 C>G	14	23876339	23876339	C	G	MYH6	c.94G>C	NM_002471.4	NP_002462.2:p.(Asp32His)	NC_000014.8:g.23876339C>G	VUS	1 lab	b19e2bfa53
11:121323241 SORL1 G>A	11	121323241	121323241	G	A	SORL1	c.201G>A	NM_003105.6	NP_003096.2:p.(Arg67=)	NC_000011.9:g.121323241G>A	(Likely) benign	1 lab	b19fb753aa
12:48368601 COL2A1 T>C	12	48368601	48368601	T	C	COL2A1	c.3931A>G	NM_001844.5	NP_001835.3:p.(Met1311Val)	NC_000012.11:g.48368601T>C	VUS	1 lab	b1a3aabd3f
2:21258536 APOB C>T	2	21258536	21258536	C	T	APOB	c.738G>A	NM_000384.3	NP_000375.3:p.(Gln246=)	NC_000002.11:g.21258536C>T	(Likely) benign	1 lab	b1a589ba6e
4:170428901 NEK1 C>T	4	170428901	170428901	C	T	NEK1	c.1876G>A	NM_001199397.3	NP_001186326.1:p.(Ala626Thr)	NC_000004.11:g.170428901C>T	(Likely) benign	1 lab	b1a7047a2d
12:21358783 SLCO1B1 G>C	12	21358783	21358783	G	C	SLCO1B1	c.1332-19G>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358783G>C	(Likely) benign	1 lab	b1a933b644
6:149720598 TAB2 T>C	6	149720598	149720598	T	C	TAB2	c.1939+278T>C	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149720598T>C	(Likely) benign	1 lab	b1ab5f82a9
20:10625249 JAG1 G>C	20	10625249	10625249	G	C	JAG1	c.2345-217C>G	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10625249G>C	(Likely) benign	1 lab	b1acedc85c
2:179592565 TTN A>G	2	179592565	179592565	A	G	TTN	c.19740T>C	NM_001267550.2	NP_001254479.2:p.(Pro6580=)	NC_000002.11:g.179592565A>G	(Likely) benign	1 lab	b1b1d93bc6
12:88478012 CEP290 Ref too long to show for this DEL>C	12	88478012	88479043	Ref too long to show for this DEL	C	CEP290	c.4438-414_4705-282del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88478013_88479043del	VUS	1 lab	b1b1f5986c
19:16591433 CALR3 C>T	19	16591433	16591433	C	T	CALR3	c.1003G>A	NM_145046.5	NP_659483.2:p.(Glu335Lys)	NC_000019.9:g.16591433C>T	VUS	1 lab	b1b74f122b
11:47371708 MYBPC3 T>C	11	47371708	47371708	T	C	MYBPC3	c.407-45A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371708T>C	(Likely) benign	1 lab	b1b974beaa
13:32945207 BRCA2 A>G	13	32945207	32945207	A	G	BRCA2	c.8602A>G	NM_000059.4	NP_000050.3:p.(Lys2868Glu)	NC_000013.10:g.32945207A>G	VUS	1 lab	b1baffa5cc
1:211654587 RD3 A>C	1	211654587	211654587	A	C	RD3	c.171T>G	NM_183059.3	NP_898882.1:p.(Gly57=)	NC_000001.10:g.211654587A>C	(Likely) benign	1 lab	b1bd5be9a2
3:49723742 MST1 T>C	3	49723742	49723742	T	C	MST1	c.1016+4A>G	NM_020998.3	NP_066278.3:p.?	NC_000003.11:g.49723742T>C	(Likely) benign	1 lab	b1c092d5dd
2:211473301 CPS1 T>G	2	211473301	211473301	T	G	CPS1	c.2391+18T>G	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211473301T>G	(Likely) benign	1 lab	b1c2ad43ce
11:22646629 FANCF C>T	11	22646629	22646629	C	T	FANCF	c.728G>A	NM_022725.4	NP_073562.1:p.(Gly243Glu)	NC_000011.9:g.22646629C>T	(Likely) benign	1 lab	b1c8c5dc61
X:85134073 CHM T>TA	X	85134073	85134083	T	TA	CHM	c.1511-6dup	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85134083dup	(Likely) benign	1 lab	b1cbdbbcf0
11:47366564 MYBPC3 C>T	11	47366564	47366564	C	T	MYBPC3	c.1090+1194G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366564C>T	(Likely) benign	1 lab	b1cc462599
12:30816599 IPO8 A>T	12	30816599	30816599	A	T	IPO8	c.1429-11T>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30816599A>T	(Likely) benign	1 lab	b1d0780c7b
4:71510215 ENAM T>C	4	71510215	71510215	T	C	ENAM	c.3072T>C	NM_031889.3	NP_114095.2:p.(Pro1024=)	NC_000004.11:g.71510215T>C	(Likely) benign	1 lab	b1d7b89f98
1:156084893 LMNA C>T	1	156084893	156084893	C	T	LMNA	c.184C>T	NM_170707.4	NP_733821.1:p.(Arg62Cys)	NC_000001.10:g.156084893C>T	(Likely) pathogenic	1 lab	b1dd95e3b7
12:50501193 GPD1 G>C	12	50501193	50501193	G	C	GPD1	c.613-157G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501193G>C	(Likely) benign	1 lab	b1ddcbee54
19:50919026 POLD1 C>T	19	50919026	50919026	C	T	POLD1	c.2763C>T	NM_001256849.1	NP_001243778.1:p.(Arg921=)	NC_000019.9:g.50919026C>T	(Likely) benign	1 lab	b1e20f5bf6
6:32552137 HLA-DRB1 G>A	6	32552137	32552137	G	A	HLA-DRB1	c.119C>T	NM_002124.4	NP_002115.2:p.(Pro40Leu)	NC_000006.11:g.32552137G>A	(Likely) benign	1 lab	b1e689c117
16:78259370 WWOX Ref too long to show for this DEL>C	16	78259370	78283674	Ref too long to show for this DEL	C	WWOX	c.516+61186_516+85488del	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78259372_78283674del	VUS	1 lab	b1e74ff764
11:121415950 SORL1 A>G	11	121415950	121415950	A	G	SORL1	c.1865-2A>G	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121415950A>G	VUS	1 lab	b1e7586cc7
16:57009033 CETP C>T	16	57009033	57009033	C	T	CETP	c.951C>T	NM_000078.3	NP_000069.2:p.(Gly317=)	NC_000016.9:g.57009033C>T	(Likely) benign	1 lab	b1eae17a0f
19:2116616 AP3D1 T>C	19	2116616	2116616	T	C	AP3D1	c.1989A>G	NM_001261826.3	NP_001248755.1:p.(Glu663=)	NC_000019.9:g.2116616T>C	(Likely) benign	1 lab	b1ecfb27af
16:8815380 MISSING T>Alt too long to show for this DUP	16	8815380	9123397	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.8815383_9123397dup	VUS	1 lab	b1f095521a
15:85411452 ALPK3 C>T	15	85411452	85411452	C	T	ALPK3	c.4883C>T	NM_020778.5	NP_065829.4:p.(Pro1628Leu)	NC_000015.9:g.85411452C>T	VUS	1 lab	b1f47bcebd
2:179417245 TTN T>A	2	179417245	179417245	T	A	TTN	c.90382A>T	NM_001267550.2	NP_001254479.2:p.(Thr30128Ser)	NC_000002.11:g.179417245T>A	(Likely) benign	1 lab	b1f511380e
19:11224260 LDLR A>T	19	11224260	11224260	A	T	LDLR	c.1408A>T	NM_000527.5	NP_000518.1:p.(Ser470Cys)	NC_000019.9:g.11224260A>T	VUS	1 lab	b1f574d58b
19:38960007 RYR1 G>A	19	38960007	38960007	G	A	RYR1	c.3619G>A	NM_000540.3	NP_000531.2:p.(Val1207Met)	NC_000019.9:g.38960007G>A	VUS	1 lab	b1f9d695be
14:68229037 ZFYVE26 C>T	14	68229037	68229037	C	T	ZFYVE26	c.6252G>A	NM_015346.4	NP_056161.2:p.(Glu2084=)	NC_000014.8:g.68229037C>T	(Likely) benign	1 lab	b200b577bb
14:74976852 LTBP2 G>A	14	74976852	74976852	G	A	LTBP2	c.3093C>T	NM_000428.3	NP_000419.1:p.(Ser1031=)	NC_000014.8:g.74976852G>A	(Likely) benign	1 lab	b202d31eaa
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	b20b1040cc
10:54042235 PRKG1 A>T	10	54042235	54042235	A	T	PRKG1	c.1664+159A>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54042235A>T	(Likely) benign	1 lab	b20b11cd02
7:150645608 KCNH2 G>A	7	150645608	150645608	G	A	KCNH2	c.2616C>T	NM_000238.4	NP_000229.1:p.(Pro872=)	NC_000007.13:g.150645608G>A	(Likely) benign	1 lab	b211c690d2
17:75483566 SEPTIN9 G>A	17	75483566	75483566	G	A	SEPTIN9	c.920G>A	NM_006640.5	NP_006631.2:p.(Arg307Gln)	NC_000017.10:g.75483566G>A	VUS	1 lab	b2122d8efb
6:70976477 COL9A1 A>T	6	70976477	70976477	A	T	COL9A1	c.1288-4T>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70976477A>T	(Likely) benign	1 lab	b213677d25
2:219679254 CYP27A1 A>G	2	219679254	219679254	A	G	CYP27A1	c.1264-14A>G	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219679254A>G	VUS	1 lab	b21928ed62
1:236920831 ACTN2 A>G	1	236920831	236920831	A	G	ACTN2	c.1576A>G	NM_001278344.2	NP_001265273.1:p.(Thr526Ala)	NC_000001.10:g.236920831A>G	VUS	1 lab	b21b071a77
16:77387723 ADAMTS18 C>T	16	77387723	77387723	C	T	ADAMTS18	c.1521G>A	NM_199355.4	NP_955387.1:p.(Pro507=)	NC_000016.9:g.77387723C>T	(Likely) benign	1 lab	b21c3b5141
2:44102387 ABCG8 C>T	2	44102387	44102387	C	T	ABCG8	c.1591C>T	NM_022437.3	NP_071882.1:p.(His531Tyr)	NC_000002.11:g.44102387C>T	VUS	1 lab	b222408421
12:21355602 SLCO1B1 T>C	12	21355602	21355602	T	C	SLCO1B1	c.1313T>C	NM_006446.5	NP_006437.3:p.(Leu438Pro)	NC_000012.11:g.21355602T>C	(Likely) benign	1 lab	b22282d227
9:134464277 RAPGEF1 C>G	9	134464277	134464277	C	G	RAPGEF1	c.2460G>C	NM_198679.2	NP_941372.1:p.(Arg820=)	NC_000009.11:g.134464277C>G	(Likely) benign	1 lab	b2230b571f
8:101933628 YWHAZ Ref too long to show for this DEL>C	8	101933628	101961783	Ref too long to show for this DEL	C	YWHAZ	c.-11-655_679-649del	NM_145690.3	NP_663723.1:p.?	NC_000008.10:g.101933629_101961783del	VUS	1 lab	b22807cd03
9:98240376 PTCH1 G>A	9	98240376	98240376	G	A	PTCH1	c.1308C>T	NM_000264.5	NP_000255.2:p.(Asp436=)	NC_000009.11:g.98240376G>A	(Likely) benign	1 lab	b22c6a9e43
2:167099158 SCN1A-AS1 A>G	2	167099158	167099158	A	G	SCN1A-AS1	n.612-5547A>G	NR_110260.1		NC_000002.11:g.167099158A>G	(Likely) benign	1 lab	b22c70d1a1
19:11215919 LDLR G>T	19	11215919	11215919	G	T	LDLR	c.337G>T	NM_000527.5	NP_000518.1:p.(Glu113Ter)	NC_000019.9:g.11215919G>T	(Likely) pathogenic	1 lab	b2314660f5
11:68701912 IGHMBP2 C>T	11	68701912	68701912	C	T	IGHMBP2	c.1538-20C>T	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68701912C>T	(Likely) benign	1 lab	b2315df351
14:23888498 MYH7 A>C	14	23888498	23888498	A	C	MYH7	c.3860T>G	NM_000257.4	NP_000248.2:p.(Leu1287Arg)	NC_000014.8:g.23888498A>C	VUS	1 lab	b23348ea7e
11:1862317 TNNI2 A>G	11	1862317	1862317	A	G	TNNI2	c.333A>G	NM_001145829.2	NP_001139301.1:p.(Pro111=)	NC_000011.9:g.1862317A>G	(Likely) benign	1 lab	b23631fa25
15:25221479 SNRPN T>C	15	25221479	25221479	T	C	SNRPN	c.183T>C	NM_022807.5	NP_073718.1:p.(Arg61=)	NC_000015.9:g.25221479T>C	(Likely) benign	1 lab	b23636a639
1:3350377 PRDM16 G>A	1	3350377	3350377	G	A	PRDM16	c.*2G>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3350377G>A	VUS	1 lab	b239574b97
16:89815049 FANCA T>C	16	89815049	89815049	T	C	FANCA	c.3348+18A>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89815049T>C	(Likely) benign	1 lab	b239b14f19
X:151743804 MISSING A>Alt too long to show for this DUP	X	151743804	151827301	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151743805_151827301dup	VUS	1 lab	b23c00abd0
16:920015 LMF1 G>A	16	920015	920015	G	A	LMF1	c.1284C>T	NM_022773.4	NP_073610.2:p.(Asn428=)	NC_000016.9:g.920015G>A	(Likely) benign	1 lab	b23db2f48f
2:44050051 ABCG5 C>T	2	44050051	44050051	C	T	ABCG5	c.1348G>A	NM_022436.3	NP_071881.1:p.(Asp450Asn)	NC_000002.11:g.44050051C>T	(Likely) benign	1 lab	b23feb96dc
X:31889418 DMD Ref too long to show for this DEL>G	X	31889418	31927002	Ref too long to show for this DEL	G	DMD	c.6912+20711_7098+3886del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31889419_31927002del	VUS	1 lab	b243dece9c
X:41428921 CASK C>T	X	41428921	41428921	C	T	CASK	c.1582G>A	NM_003688.3	NP_003679.2:p.(Gly528Ser)	NC_000023.10:g.41428921C>T	VUS	1 lab	b24607f260
22:37621949 MISSING A>Alt too long to show for this DUP	22	37621949	37797629	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.37621951_37797629dup	VUS	1 lab	b2484eee91
8:134108584 SLA C>T	8	134108584	134108584	C	T	SLA	c.-319+6213G>A	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134108584C>T	(Likely) benign	1 lab	b248f4fd90
2:179479005 TTN G>A	2	179479005	179479005	G	A	TTN	c.49119C>T	NM_001267550.2	NP_001254479.2:p.(Asn16373=)	NC_000002.11:g.179479005G>A	(Likely) benign	1 lab	b24f14a767
1:31439065 PUM1 T>C	1	31439065	31439065	T	C	PUM1	c.1850A>G	NM_001020658.2	NP_001018494.1:p.(Asn617Ser)	NC_000001.10:g.31439065T>C	(Likely) benign	1 lab	b2506f8ff4
15:23892507 MAGEL2 A>G	15	23892507	23892507	A	G	MAGEL2	c.383T>C	NM_019066.5	NP_061939.3:p.(Leu128Pro)	NC_000015.9:g.23892507A>G	(Likely) benign	1 lab	b25274d160
2:179535876 TTN AT>A	2	179535876	179535880	AT	A	TTN	c.35248del	NM_001267550.2	NP_001254479.2:p.(Ile11750SerfsTer30)	NC_000002.11:g.179535880del	VUS	1 lab	b2554ef4e6
7:21765428 DNAH11 G>T	7	21765428	21765428	G	T	DNAH11	c.7267-1G>T	NM_001277115.2	NP_001264044.1:p.?	NC_000007.13:g.21765428G>T	(Likely) pathogenic	1 lab	b259d5015e
6:32054041 TNXB C>T	6	32054041	32054041	C	T	TNXB	c.2780-146G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32054041C>T	(Likely) benign	1 lab	b25bcfbcad
19:52778242 ZNF766 G>Alt too long to show for this DUP	19	52778242	52792445	G	Alt too long to show for this DUP	ZNF766	c.18+5359_275-874dup	NM_001010851.3	NP_001010851.1:p.?	NC_000019.9:g.52778243_52792445dup	VUS	1 lab	b25caa359c
1:227782022 MISSING A>Alt too long to show for this DUP	1	227782022	227934750	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.227782023_227934750dup	VUS	1 lab	b2659edfc2
8:133920516 TG G>A	8	133920516	133920516	G	A	TG	c.3933G>A	NM_003235.5	NP_003226.4:p.(Ala1311=)	NC_000008.10:g.133920516G>A	(Likely) benign	1 lab	b265a67844
6:16146912 MYLIP C>T	6	16146912	16146912	C	T	MYLIP	c.1268C>T	NM_013262.4	NP_037394.2:p.(Ser423Leu)	NC_000006.11:g.16146912C>T	VUS	1 lab	b2665b2b1f
8:1448889 MISSING G>Alt too long to show for this DUP	8	1448889	1920961	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1448893_1920961dup	VUS	1 lab	b2682c30ed
15:55516105 RAB27A G>C	15	55516105	55516105	G	C	RAB27A	c.449C>G	NM_004580.5	NP_004571.2:p.(Ala150Gly)	NC_000015.9:g.55516105G>C	(Likely) benign	1 lab	b26b0df81f
11:47357450 MYBPC3 G>A	11	47357450	47357450	G	A	MYBPC3	c.2715C>T	NM_000256.3	NP_000247.2:p.(Ser905=)	NC_000011.9:g.47357450G>A	(Likely) benign	1 lab	b26c694067
17:78184737 SGSH G>A	17	78184737	78184737	G	A	SGSH	c.1023C>T	NM_000199.5	NP_000190.1:p.(Ile341=)	NC_000017.10:g.78184737G>A	(Likely) benign	1 lab	b26f10bcc7
16:1005369 LMF1 C>T	16	1005369	1005369	C	T	LMF1	c.-361-703G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005369C>T	(Likely) benign	1 lab	b270304380
12:32778663 FGD4 C>A	12	32778663	32778663	C	A	FGD4	c.679C>A	NM_001304484.2	NP_001291413.1:p.(Pro227Thr)	NC_000012.11:g.32778663C>A	(Likely) benign	1 lab	b27399d2be
4:128859964 MFSD8 T>C	4	128859964	128859964	T	C	MFSD8	c.728A>G	NM_152778.3	NP_689991.1:p.(Gln243Arg)	NC_000004.11:g.128859964T>C	VUS	1 lab	b2759544a3
15:48427185 SLC24A5 A>G	15	48427185	48427185	A	G	SLC24A5	c.590+4A>G	NM_205850.3	NP_995322.1:p.?	NC_000015.9:g.48427185A>G	VUS	1 lab	b277ab8893
1:89524614 GBP1 T>C	1	89524614	89524614	T	C	GBP1	c.541A>G	NM_002053.3	NP_002044.2:p.(Thr181Ala)	NC_000001.10:g.89524614T>C	(Likely) benign	1 lab	b27832bf1d
5:133956716 SAR1B CCA>C	5	133956716	133956718	CCA	C	SAR1B	c.83_84del	NM_001033503.3	NP_001028675.1:p.(Leu28ArgfsTer7)	NC_000005.9:g.133956717_133956718del	(Likely) pathogenic	1 lab	b27897c1e2
2:179413883 TTN G>A	2	179413883	179413883	G	A	TTN	c.92470C>T	NM_001267550.2	NP_001254479.2:p.(Pro30824Ser)	NC_000002.11:g.179413883G>A	VUS	1 lab	b2810e57b8
11:1862244 TNNI2 G>A	11	1862244	1862244	G	A	TNNI2	c.277-17G>A	NM_001145829.2	NP_001139301.1:p.?	NC_000011.9:g.1862244G>A	(Likely) benign	1 lab	b2836af492
16:3090510 MISSING A>Alt too long to show for this DUP	16	3090510	3146029	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.3090512_3146029dup	VUS	1 lab	b2847d0b6b
3:63968087 ATXN7 C>T	3	63968087	63968087	C	T	ATXN7	c.978C>T	NM_000333.4	NP_000324.1:p.(Ser326=)	NC_000003.11:g.63968087C>T	(Likely) benign	1 lab	b28523e605
3:123444576 MYLK G>A	3	123444576	123444576	G	A	MYLK	c.1651+215C>T	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123444576G>A	(Likely) benign	1 lab	b289c93f17
2:179605765 TTN A>G	2	179605765	179605765	A	G	TTN	c.12195T>C	NM_001267550.2	NP_001254479.2:p.(Leu4065=)	NC_000002.11:g.179605765A>G	(Likely) benign	1 lab	b28b9c7dc0
10:54031235 PRKG1 C>T	10	54031235	54031235	C	T	PRKG1	c.1254C>T	NM_001098512.3	NP_001091982.1:p.(Ser418=)	NC_000010.10:g.54031235C>T	(Likely) benign	1 lab	b290082fa3
19:11221406 LDLR G>T	19	11221406	11221406	G	T	LDLR	c.1019G>T	NM_000527.5	NP_000518.1:p.(Cys340Phe)	NC_000019.9:g.11221406G>T	(Likely) pathogenic	1 lab	b290ed4dbd
9:32481498 RIGI G>T	9	32481498	32481498	G	T	RIGI	c.1481-3C>A	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32481498G>T	(Likely) benign	1 lab	b295c477bf
5:102077732 MISSING Ref too long to show for this DEL>T	5	102077732	102228008	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.102077733_102228008del	VUS	1 lab	b298efced9
16:68849623 CDH1 C>G	16	68849623	68849623	C	G	CDH1	c.1526C>G	NM_004360.5	NP_004351.1:p.(Thr509Ser)	NC_000016.9:g.68849623C>G	VUS	1 lab	b29e5e247a
1:186055400 HMCN1 T>A	1	186055400	186055400	T	A	HMCN1	c.8907T>A	NM_031935.3	NP_114141.2:p.(Pro2969=)	NC_000001.10:g.186055400T>A	(Likely) benign	1 lab	b2a22ea467
13:25671699 PABPC3 G>C	13	25671699	25671699	G	C	PABPC3	c.1363G>C	NM_030979.3	NP_112241.2:p.(Val455Leu)	NC_000013.10:g.25671699G>C	(Likely) benign	1 lab	b2b0028054
15:34542739 SLC12A6 G>C	15	34542739	34542739	G	C	SLC12A6	c.1564+93C>G	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34542739G>C	(Likely) benign	1 lab	b2b0e0d384
7:150645575 KCNH2 C>A	7	150645575	150645575	C	A	KCNH2	c.2649G>T	NM_000238.4	NP_000229.1:p.(Arg883=)	NC_000007.13:g.150645575C>A	(Likely) benign	1 lab	b2b7872cdf
5:172660519 NKX2-5 AAAAT>A	5	172660519	172660530	AAAAT	A	NKX2-5	c.335-19_335-16del	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660527_172660530del	(Likely) benign	1 lab	b2b87dfced
X:152770016 BGN G>A	X	152770016	152770016	G	A	BGN	c.-11-63G>A	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152770016G>A	(Likely) benign	1 lab	b2bc9118a4
2:179460293 TTN C>T	2	179460293	179460293	C	T	TTN	c.57788G>A	NM_001267550.2	NP_001254479.2:p.(Ser19263Asn)	NC_000002.11:g.179460293C>T	VUS	1 lab	b2bdb991e4
1:64669755 UBE2U TTGCTGCACAGA>T	1	64669755	64669766	TTGCTGCACAGA	T	UBE2U	c.23_33del	NM_152489.3	NP_689702.1:p.(Leu8Ter)	NC_000001.10:g.64669756_64669766del	VUS	1 lab	b2ce9d63c2
16:68863674 CDH1 G>A	16	68863674	68863674	G	A	CDH1	c.2413G>A	NM_004360.5	NP_004351.1:p.(Asp805Asn)	NC_000016.9:g.68863674G>A	(Likely) benign	1 lab	b2cfed1e38
2:227766475 RHBDD1 Ref too long to show for this DEL>A	2	227766475	227818239	Ref too long to show for this DEL	A	RHBDD1	c.567-5030_856+39172del	NM_001167608.3	NP_001161080.1:p.?	NC_000002.11:g.227766479_227818239del	VUS	1 lab	b2d0442b3a
1:12025710 PLOD1 G>A	1	12025710	12025710	G	A	PLOD1	c.1584+60G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12025710G>A	(Likely) benign	1 lab	b2d615b3b6
8:144993543 PLEC G>A	8	144993543	144993543	G	A	PLEC	c.10857C>T	NM_201380.4	NP_958782.1:p.(Arg3619=)	NC_000008.10:g.144993543G>A	(Likely) benign	1 lab	b2d7f2999a
15:85400795 ALPK3 G>A	15	85400795	85400795	G	A	ALPK3	c.2826G>A	NM_020778.5	NP_065829.4:p.(Val942=)	NC_000015.9:g.85400795G>A	(Likely) benign	1 lab	b2e36d6db6
8:42761296 HOOK3 C>A	8	42761296	42761296	C	A	HOOK3	c.58-20C>A	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42761296C>A	(Likely) benign	1 lab	b2e9fa8e9a
12:22025600 ABCC9 G>A	12	22025600	22025600	G	A	ABCC9	c.2157C>T	NM_020297.4	NP_064693.2:p.(Leu719=)	NC_000012.11:g.22025600G>A	(Likely) benign	1 lab	b2ebdfe8b1
18:47102002 LIPG T>C	18	47102002	47102002	T	C	LIPG	c.793+42T>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47102002T>C	(Likely) benign	1 lab	b2ec4346ae
21:47692595 MCM3AP C>T	21	47692595	47692595	C	T	MCM3AP	c.2345G>A	NM_003906.5	NP_003897.2:p.(Cys782Tyr)	NC_000021.8:g.47692595C>T	VUS	1 lab	b2ede3deb0
11:76908527 MYO7A G>A	11	76908527	76908527	G	A	MYO7A	c.4325G>A	NM_000260.4	NP_000251.3:p.(Gly1442Glu)	NC_000011.9:g.76908527G>A	VUS	1 lab	b2f3e7c306
15:63358083 TPM1 A>C	15	63358083	63358083	A	C	TPM1	c.852-12A>C	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63358083A>C	(Likely) benign	1 lab	b2f6fe614b
1:243589789 SDCCAG8 A>G	1	243589789	243589789	A	G	SDCCAG8	c.1914A>G	NM_006642.5	NP_006633.1:p.(Leu638=)	NC_000001.10:g.243589789A>G	(Likely) benign	1 lab	b2fcfe79af
8:59404065 CYP7A1 A>G	8	59404065	59404065	A	G	CYP7A1	c.1484T>C	NM_000780.4	NP_000771.2:p.(Ile495Thr)	NC_000008.10:g.59404065A>G	VUS	1 lab	b3025d56e9
18:25582959 CDH2 A>C	18	25582959	25582959	A	C	CDH2	c.1020+2T>G	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25582959A>C	VUS	1 lab	b30281866e
6:3085513 RIPK1 T>C	6	3085513	3085513	T	C	RIPK1	c.709T>C	NM_003804.6	NP_003795.2:p.(Leu237=)	NC_000006.11:g.3085513T>C	(Likely) benign	1 lab	b307620d0f
19:11233887 LDLR C>T	19	11233887	11233887	C	T	LDLR	c.2178C>T	NM_000527.5	NP_000518.1:p.(Thr726=)	NC_000019.9:g.11233887C>T	(Likely) benign	1 lab	b30ea3add7
1:2236030 SKI C>T	1	2236030	2236030	C	T	SKI	c.1767+6C>T	NM_003036.4	NP_003027.1:p.?	NC_000001.10:g.2236030C>T	(Likely) benign	1 lab	b30eddc768
18:10803927 PIEZO2 C>T	18	10803927	10803927	C	T	PIEZO2	c.1146G>A	NM_022068.4	NP_071351.2:p.(Ala382=)	NC_000018.9:g.10803927C>T	(Likely) benign	1 lab	b30fa39f6a
17:73608321 MISSING Ref too long to show for this DEL>A	17	73608321	76128963	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.73608323_76128963del	(Likely) pathogenic	1 lab	b3135ff218
2:242011122 SNED1 A>C	2	242011122	242011122	A	C	SNED1	c.3721A>C	NM_001080437.3	NP_001073906.1:p.(Thr1241Pro)	NC_000002.11:g.242011122A>C	(Likely) benign	1 lab	b31ed049c4
6:42975043 PPP2R5D A>C	6	42975043	42975043	A	C	PPP2R5D	c.179A>C	NM_001270476.2	NP_001257405.1:p.(Gln60Pro)	NC_000006.11:g.42975043A>C	(Likely) pathogenic	1 lab	b320712492
17:15754172 MISSING Ref too long to show for this DEL>G	17	15754172	20552548	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.15754173_20552548del	(Likely) pathogenic	1 lab	b3254eda7b
11:118361930 KMT2A T>A	11	118361930	118361930	T	A	KMT2A	c.4716T>A	NM_001197104.2	NP_001184033.1:p.(Cys1572Ter)	NC_000011.9:g.118361930T>A	(Likely) pathogenic	1 lab	b32619680d
1:2124345 FAAP20 TTTG>T	1	2124345	2124363	TTTG	T	FAAP20	c.537_539del	NM_001256946.2	NP_001243875.2:p.(Asn179del)	NC_000001.10:g.2124361_2124363del	(Likely) benign	1 lab	b32d8ecb59
4:113353236 ALPK1 G>C	4	113353236	113353236	G	C	ALPK1	c.2533G>C	NM_025144.4	NP_079420.3:p.(Asp845His)	NC_000004.11:g.113353236G>C	(Likely) benign	1 lab	b32ddef994
10:121432085 BAG3 C>T	10	121432085	121432085	C	T	BAG3	c.826C>T	NM_004281.4	NP_004272.2:p.(Arg276Trp)	NC_000010.10:g.121432085C>T	VUS	1 lab	b32deeac97
12:21998524 ABCC9 G>A	12	21998524	21998524	G	A	ABCC9	c.3096+13C>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21998524G>A	(Likely) benign	1 lab	b32f003063
21:47148712 MISSING G>Alt too long to show for this DUP	21	47148712	47996426	G	Alt too long to show for this DUP	MISSING				NC_000021.8:g.47148713_47996426dup	VUS	1 lab	b331777437
2:105984190 FHL2 C>T	2	105984190	105984190	C	T	FHL2	c.338G>A	NM_201555.2	NP_963849.1:p.(Arg113His)	NC_000002.11:g.105984190C>T	VUS	1 lab	b331b856b6
1:201333463 TNNT2 C>T	1	201333463	201333463	C	T	TNNT2	c.422G>A	NM_001001430.3	NP_001001430.1:p.(Arg141Gln)	NC_000001.10:g.201333463C>T	(Likely) pathogenic	1 lab	b33604a7ef
14:105174062 INF2 C>T	14	105174062	105174062	C	T	INF2	c.1458C>T	NM_022489.4	NP_071934.3:p.(Phe486=)	NC_000014.8:g.105174062C>T	(Likely) benign	1 lab	b337b60e08
10:18803951 CACNB2 G>A	10	18803951	18803951	G	A	CACNB2	c.629G>A	NM_201572.4	NP_963866.2:p.(Gly210Asp)	NC_000010.10:g.18803951G>A	(Likely) benign	1 lab	b33df92e5b
7:128480534 FLNC G>A	7	128480534	128480534	G	A	FLNC	c.1550-68G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128480534G>A	(Likely) benign	1 lab	b3409ccc73
1:74737293 TNNI3K A>G	1	74737293	74737293	A	G	TNNI3K	c.345A>G	NM_015978.3	NP_057062.1:p.(Glu115=)	NC_000001.10:g.74737293A>G	(Likely) benign	1 lab	b3467c0a39
12:21958998 ABCC9 C>CA	12	21958998	21959010	C	CA	ABCC9	c.4450-5dup	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21959010dup	(Likely) benign	1 lab	b3544a2e7a
19:45411802 APOE C>T	19	45411802	45411802	C	T	APOE	c.327C>T	NM_001302688.2	NP_001289617.1:p.(Asp109=)	NC_000019.9:g.45411802C>T	(Likely) benign	1 lab	b358a3c5f7
9:203860 MISSING Ref too long to show for this DEL>T	9	203860	3729676	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.203864_3729676del	(Likely) pathogenic	1 lab	b3591b23dc
17:48266013 COL1A1 A>G	17	48266013	48266013	A	G	COL1A1	c.3100-15T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266013A>G	(Likely) benign	1 lab	b35bfbc3b1
2:179408994 TTN C>T	2	179408994	179408994	C	T	TTN	c.95962G>A	NM_001267550.2	NP_001254479.2:p.(Val31988Met)	NC_000002.11:g.179408994C>T	VUS	1 lab	b361858e2e
5:13751266 DNAH5 G>A	5	13751266	13751266	G	A	DNAH5	c.11132C>T	NM_001369.3	NP_001360.1:p.(Thr3711Ile)	NC_000005.9:g.13751266G>A	VUS	1 lab	b3645beadc
20:31024108 ASXL1 GAGCACCCCAAA>G	20	31024108	31024121	GAGCACCCCAAA	G	ASXL1	c.3596_3606del	NM_015338.6	NP_056153.2:p.(Ala1199GlufsTer9)	NC_000020.10:g.31024111_31024121del	(Likely) pathogenic	1 lab	b367f99382
20:25304044 ABHD12 ATC>A	20	25304044	25304046	ATC	A	ABHD12	c.337_338del	NM_001042472.3	NP_001035937.1:p.(Asp113PhefsTer14)	NC_000020.10:g.25304045_25304046del	(Likely) pathogenic	1 lab	b36b100314
2:44058948 ABCG5 A>C	2	44058948	44058948	A	C	ABCG5	c.461T>G	NM_022436.3	NP_071881.1:p.(Leu154Arg)	NC_000002.11:g.44058948A>C	VUS	1 lab	b37425a829
7:150647477 KCNH2 G>A	7	150647477	150647477	G	A	KCNH2	c.2177C>T	NM_000238.4	NP_000229.1:p.(Ala726Val)	NC_000007.13:g.150647477G>A	VUS	1 lab	b378cf18a8
8:10467621 RP1L1 T>C	8	10467621	10467621	T	C	RP1L1	c.3987A>G	NM_178857.6	NP_849188.4:p.(Glu1329=)	NC_000008.10:g.10467621T>C	(Likely) benign	1 lab	b378d71205
16:929319 LMF1 G>A	16	929319	929319	G	A	LMF1	c.498+251C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929319G>A	(Likely) benign	1 lab	b379fc9d43
15:75183936 MPI C>T	15	75183936	75183936	C	T	MPI	c.345+16C>T	NM_002435.3	NP_002426.1:p.?	NC_000015.9:g.75183936C>T	(Likely) benign	1 lab	b37a02468e
9:107588062 ABCA1 T>C	9	107588062	107588062	T	C	ABCA1	c.2444A>G	NM_005502.4	NP_005493.2:p.(Glu815Gly)	NC_000009.11:g.107588062T>C	(Likely) benign	1 lab	b385ac8e3b
4:166300676 CPE G>A	4	166300676	166300676	G	A	CPE	c.303G>A	NM_001873.4	NP_001864.1:p.(Glu101=)	NC_000004.11:g.166300676G>A	(Likely) benign	1 lab	b385e30c1f
18:28666646 DSC2 G>A	18	28666646	28666646	G	A	DSC2	c.835C>T	NM_004949.5	NP_004940.1:p.(Arg279Cys)	NC_000018.9:g.28666646G>A	VUS	1 lab	b97ee1b029
X:118986859 UPF3B C>T	X	118986859	118986859	C	T	UPF3B	c.33G>A	NM_080632.3	NP_542199.1:p.(Glu11=)	NC_000023.10:g.118986859C>T	(Likely) benign	1 lab	b3906cd3f7
1:26142079 SELENON C>T	1	26142079	26142079	C	T	SELENON	c.1643C>T	NM_020451.3	NP_065184.2:p.(Ser548Phe)	NC_000001.10:g.26142079C>T	VUS	1 lab	b391742285
6:123786135 TRDN A>G	6	123786135	123786135	A	G	TRDN	c.854-7T>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123786135A>G	(Likely) benign	1 lab	b39a81f6bf
20:44045457 MISSING G>Alt too long to show for this DUP	20	44045457	44063845	G	Alt too long to show for this DUP	MISSING				NC_000020.10:g.44045458_44063845dup	VUS	1 lab	b39d152f99
15:74239456 LOXL1 A>G	15	74239456	74239456	A	G	LOXL1	c.1398A>G	NM_005576.4	NP_005567.2:p.(Ala466=)	NC_000015.9:g.74239456A>G	(Likely) benign	1 lab	b39f65b888
3:123375906 MYLK T>C	3	123375906	123375906	T	C	MYLK	c.4288+67A>G	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123375906T>C	(Likely) benign	1 lab	b3a4bbe8f4
19:11221411 LDLR G>A	19	11221411	11221411	G	A	LDLR	c.1024G>A	NM_000527.5	NP_000518.1:p.(Asp342Asn)	NC_000019.9:g.11221411G>A	(Likely) benign	1 lab	b3a6ee9756
1:236908002 ACTN2 C>T	1	236908002	236908002	C	T	ACTN2	c.708C>T	NM_001278344.2	NP_001265273.1:p.(His236=)	NC_000001.10:g.236908002C>T	(Likely) benign	1 lab	b3af192052
15:58840922 LIPC A>T	15	58840922	58840922	A	T	LIPC	c.1051+151A>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840922A>T	(Likely) benign	1 lab	b3b31a6bb6
1:10292382 KIF1B T>C	1	10292382	10292382	T	C	KIF1B	c.-5T>C	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10292382T>C	(Likely) benign	1 lab	b3b86cc34b
2:179395241 TTN C>T	2	179395241	179395241	C	T	TTN	c.106101G>A	NM_001267550.2	NP_001254479.2:p.(Thr35367=)	NC_000002.11:g.179395241C>T	(Likely) benign	1 lab	b3ba0a1258
12:6128346 VWF G>A	12	6128346	6128346	G	A	VWF	c.4238C>T	NM_000552.5	NP_000543.3:p.(Pro1413Leu)	NC_000012.11:g.6128346G>A	VUS	1 lab	b3bc740116
3:64440550 MISSING Ref too long to show for this DEL>A	3	64440550	64651063	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.64440551_64651063del	VUS	1 lab	b3be6a6e3e
X:77244791 ATP7A A>G	X	77244791	77244791	A	G	ATP7A	c.673A>G	NM_000052.7	NP_000043.4:p.(Met225Val)	NC_000023.10:g.77244791A>G	VUS	1 lab	b3bf98b5a0
17:33446540 RAD51D C>T	17	33446540	33446540	C	T	RAD51D	c.82+11G>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33446540C>T	VUS	1 lab	b3c093dc17
19:45451766 APOC2 C>T	19	45451766	45451766	C	T	APOC2	c.31C>T	NM_000483.5	NP_000474.2:p.(Leu11Phe)	NC_000019.9:g.45451766C>T	VUS	1 lab	b3c37cfd26
12:52700056 KRT86 G>T	12	52700056	52700056	G	T	KRT86	c.1239G>T	NM_001320198.2	NP_001307127.1:p.(Glu413Asp)	NC_000012.11:g.52700056G>T	(Likely) pathogenic	1 lab	b3c65815a6
16:2136725 TSC2 A>C	16	2136725	2136725	A	C	TSC2	c.4850-8A>C	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2136725A>C	(Likely) benign	1 lab	b3cac91694
15:85106304 MISSING A>Alt too long to show for this DUP	15	85106304	85728844	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.85106305_85728844dup	(Likely) pathogenic	1 lab	b3cbcbaf73
9:107621140 ABCA1 A>C	9	107621140	107621140	A	C	ABCA1	c.544-161T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107621140A>C	(Likely) benign	1 lab	b3cd50dae8
6:1610821 FOXC1 C>G	6	1610821	1610821	C	G	FOXC1	c.141C>G	NM_001453.3	NP_001444.2:p.(Tyr47Ter)	NC_000006.11:g.1610821C>G	(Likely) pathogenic	1 lab	b3d122660f
7:128045826 IMPDH1 G>A	7	128045826	128045826	G	A	IMPDH1	c.348C>T	NM_000883.4	NP_000874.2:p.(Thr116=)	NC_000007.13:g.128045826G>A	(Likely) benign	1 lab	b3d1c8ffcf
20:21213458 KIZ C>T	20	21213458	21213458	C	T	KIZ	c.1870C>T	NM_018474.6	NP_060944.3:p.(Pro624Ser)	NC_000020.10:g.21213458C>T	(Likely) benign	1 lab	b3d6dd75e6
6:135606770 AHI1 T>C	6	135606770	135606770	T	C	AHI1	c.3501A>G	NM_001350504.2	NP_001337433.1:p.(Lys1167=)	NC_000006.11:g.135606770T>C	(Likely) benign	1 lab	b3da17b214
16:68862062 CDH1 C>A	16	68862062	68862062	C	A	CDH1	c.2165-15C>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68862062C>A	(Likely) benign	1 lab	b3db240bfe
4:649712 PDE6B C>T	4	649712	649712	C	T	PDE6B	c.993-17C>T	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.649712C>T	(Likely) benign	1 lab	b3dd9e0c6a
14:76211938 TTLL5 C>CT	14	76211938	76211948	C	CT	TTLL5	c.1487+24dup	NM_015072.5	NP_055887.3:p.?	NC_000014.8:g.76211948dup	(Likely) benign	1 lab	b3e98894b3
1:6528107 PLEKHG5 C>T	1	6528107	6528107	C	T	PLEKHG5	c.2789G>A	NM_198681.4	NP_941374.3:p.(Arg930Gln)	NC_000001.10:g.6528107C>T	VUS	1 lab	b3ec8829d0
2:44102305 ABCG8 G>C	2	44102305	44102305	G	C	ABCG8	c.1509G>C	NM_022437.3	NP_071882.1:p.(Glu503Asp)	NC_000002.11:g.44102305G>C	VUS	1 lab	b3f0b1008b
1:42689161 MISSING C>Alt too long to show for this DUP	1	42689161	43029605	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.42689164_43029605dup	VUS	1 lab	b3f1a7f2d5
1:55523779 PCSK9 C>A	1	55523779	55523779	C	A	PCSK9	c.1251C>A	NM_174936.4	NP_777596.2:p.(His417Gln)	NC_000001.10:g.55523779C>A	VUS	1 lab	b3f40632d7
2:179528531 TTN G>C	2	179528531	179528531	G	C	TTN	c.36448+15C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528531G>C	(Likely) benign	1 lab	b3f83a841f
20:34085538 CEP250 T>C	20	34085538	34085538	T	C	CEP250	c.3307-10T>C	NM_007186.6	NP_009117.2:p.?	NC_000020.10:g.34085538T>C	(Likely) benign	1 lab	b3fb680144
17:56714636 TEX14 A>Alt too long to show for this DUP	17	56714636	56749044	A	Alt too long to show for this DUP	TEX14	c.-1-19680_137-6722dup	NM_031272.5	NP_112562.3:p.?	NC_000017.10:g.56714638_56749044dup	VUS	1 lab	b3fd94c7e0
15:85400115 ALPK3 G>A	15	85400115	85400115	G	A	ALPK3	c.2146G>A	NM_020778.5	NP_065829.4:p.(Ala716Thr)	NC_000015.9:g.85400115G>A	VUS	1 lab	b4029e2fdc
1:5964848 NPHP4 G>A	1	5964848	5964848	G	A	NPHP4	c.1972C>T	NM_015102.5	NP_055917.1:p.(Arg658Ter)	NC_000001.10:g.5964848G>A	(Likely) pathogenic	1 lab	b411b7e387
3:69928510 MITF G>A	3	69928510	69928510	G	A	MITF	c.330G>A	NM_198159.3	NP_937802.1:p.(Thr110=)	NC_000003.11:g.69928510G>A	(Likely) benign	1 lab	b4132c4c77
2:179474817 TTN G>A	2	179474817	179474817	G	A	TTN	c.51436C>T	NM_001267550.2	NP_001254479.2:p.(Gln17146Ter)	NC_000002.11:g.179474817G>A	(Likely) pathogenic	1 lab	b414dd36c6
19:11231301 LDLR G>T	19	11231301	11231301	G	T	LDLR	c.2140+103G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231301G>T	(Likely) pathogenic	1 lab	b419a16906
2:179640387 TTN C>T	2	179640387	179640387	C	T	TTN	c.6204G>A	NM_001267550.2	NP_001254479.2:p.(Lys2068=)	NC_000002.11:g.179640387C>T	(Likely) benign	1 lab	b4222e8018
20:43052769 HNF4A G>A	20	43052769	43052769	G	A	HNF4A	c.929G>A	NM_001287182.2	NP_001274111.1:p.(Gly310Glu)	NC_000020.10:g.43052769G>A	VUS	1 lab	b424839d13
9:137657381 COL5A1 T>C	9	137657381	137657381	T	C	COL5A1	c.2035-146T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137657381T>C	(Likely) benign	1 lab	b42905f00e
20:45357810 SLC2A10 C>T	20	45357810	45357810	C	T	SLC2A10	c.1412-182C>T	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45357810C>T	(Likely) benign	1 lab	b42bc630dc
9:140354920 PNPLA7 C>T	9	140354920	140354920	C	T	PNPLA7	c.3954G>A	NM_001098537.3	NP_001092007.2:p.(Glu1318=)	NC_000009.11:g.140354920C>T	(Likely) benign	1 lab	b42cb436d3
20:31996708 SNTA1 A>G	20	31996708	31996708	A	G	SNTA1	c.1238-14T>C	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.31996708A>G	(Likely) benign	1 lab	b43341988d
2:179431847 TTN C>A	2	179431847	179431847	C	A	TTN	c.79012G>T	NM_001267550.2	NP_001254479.2:p.(Ala26338Ser)	NC_000002.11:g.179431847C>A	VUS	1 lab	b4361f030f
11:68703857 IGHMBP2 C>T	11	68703857	68703857	C	T	IGHMBP2	c.1909C>T	NM_002180.3	NP_002171.2:p.(Arg637Cys)	NC_000011.9:g.68703857C>T	(Likely) pathogenic	1 lab	b4370cf613
16:57008508 CETP A>T	16	57008508	57008508	A	T	CETP	c.931-505A>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57008508A>T	(Likely) benign	1 lab	b43c0f7eab
12:102813389 IGF1 A>C	12	102813389	102813389	A	C	IGF1	c.300T>G	NM_001111283.3	NP_001104753.1:p.(Cys100Trp)	NC_000012.11:g.102813389A>C	VUS	1 lab	b43e368315
9:107553260 ABCA1 T>G	9	107553260	107553260	T	G	ABCA1	c.5870A>C	NM_005502.4	NP_005493.2:p.(Lys1957Thr)	NC_000009.11:g.107553260T>G	VUS	1 lab	b43fd1cb49
8:90970939 NBN TGAA>T	8	90970939	90970946	TGAA	T	NBN	c.1124+11_1124+13del	NM_002485.5	NP_002476.2:p.?	NC_000008.10:g.90970944_90970946del	(Likely) benign	1 lab	b4434ad8ad
14:105179902 INF2 G>A	14	105179902	105179902	G	A	INF2	c.2999G>A	NM_001031714.4	NP_001026884.3:p.(Ser1000Asn)	NC_000014.8:g.105179902G>A	(Likely) benign	1 lab	b445ce387f
19:8137102 FBN3 G>T	19	8137102	8137102	G	T	FBN3	c.7938-20C>A	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8137102G>T	(Likely) benign	1 lab	b44bea92d2
16:1004971 LMF1 T>TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACACACACAC	16	1004971	1004972	T	TCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACACACACAC	LMF1	c.-361-306_-361-305insGTGTGTGTGTGTGTGTGTGTGCACAGACCCCGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTCGCTTAG	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004971_1004972insCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCACACACACACACACACACAC	(Likely) benign	1 lab	b44e39e2c5
15:75981957 CSPG4 C>T	15	75981957	75981957	C	T	CSPG4	c.1449G>A	NM_001897.5	NP_001888.2:p.(Leu483=)	NC_000015.9:g.75981957C>T	(Likely) benign	1 lab	b45088b762
16:77606676 MISSING C>Alt too long to show for this DUP	16	77606676	78328439	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.77606677_78328439dup	VUS	1 lab	b454c29870
11:108138080 ATM A>G	11	108138080	108138080	A	G	ATM	c.2638+11A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108138080A>G	(Likely) benign	1 lab	b45582f874
9:107555583 ABCA1 T>A	9	107555583	107555583	T	A	ABCA1	c.5507-2A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107555583T>A	(Likely) pathogenic	1 lab	b457865806
X:70443837 GJB1 C>T	X	70443837	70443837	C	T	GJB1	c.280C>T	NM_000166.6	NP_000157.1:p.(His94Tyr)	NC_000023.10:g.70443837C>T	(Likely) pathogenic	1 lab	b4583866ff
16:46771975 MYLK3 C>T	16	46771975	46771975	C	T	MYLK3	c.649G>A	NM_182493.3	NP_872299.2:p.(Ala217Thr)	NC_000016.9:g.46771975C>T	VUS	1 lab	b458b09df8
15:85399797 ALPK3 G>A	15	85399797	85399797	G	A	ALPK3	c.1828G>A	NM_020778.5	NP_065829.4:p.(Val610Met)	NC_000015.9:g.85399797G>A	VUS	1 lab	b45ae7eebc
8:100844598 VPS13B A>T	8	100844598	100844598	A	T	VPS13B	c.9407A>T	NM_017890.5	NP_060360.3:p.(Tyr3136Phe)	NC_000008.10:g.100844598A>T	(Likely) benign	1 lab	b45e2ec9eb
5:180046680 FLT4 C>T	5	180046680	180046680	C	T	FLT4	c.2632G>A	NM_182925.5	NP_891555.2:p.(Val878Met)	NC_000005.9:g.180046680C>T	(Likely) pathogenic	1 lab	b460678456
Y:26287253 MISSING T>Alt too long to show for this DUP	Y	26287253	26730200	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.26287254_26730200dup	(Likely) pathogenic	1 lab	b460e95a4b
7:70229985 AUTS2 TACTC>T	7	70229985	70229990	TACTC	T	AUTS2	c.1464_1467del	NM_001127231.3	NP_001120703.1:p.(Tyr488Ter)	NC_000007.13:g.70229987_70229990del	(Likely) pathogenic	1 lab	b46571bfd3
6:16145347 MYLIP G>A	6	16145347	16145347	G	A	MYLIP	c.1047G>A	NM_013262.4	NP_037394.2:p.(Ser349=)	NC_000006.11:g.16145347G>A	(Likely) benign	1 lab	b4666fba58
X:40464941 ATP6AP2 G>C	X	40464941	40464941	G	C	ATP6AP2	c.987G>C	NM_005765.3	NP_005756.2:p.(Trp329Cys)	NC_000023.10:g.40464941G>C	VUS	1 lab	b4693ef7a8
19:11211016 LDLR C>T	19	11211016	11211016	C	T	LDLR	c.185C>T	NM_000527.5	NP_000518.1:p.(Thr62Met)	NC_000019.9:g.11211016C>T	VUS	1 lab	b46a490e9c
16:929681 LMF1 G>T	16	929681	929681	G	T	LMF1	c.387C>A	NM_001352018.2	NP_001338947.1:p.(Phe129Leu)	NC_000016.9:g.929681G>T	VUS	1 lab	b470d1ee16
1:186010128 HMCN1 G>A	1	186010128	186010128	G	A	HMCN1	c.6181-17G>A	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186010128G>A	(Likely) benign	1 lab	b47654fd7f
1:156954132 ARHGEF11 A>G	1	156954132	156954132	A	G	ARHGEF11	c.222T>C	NM_198236.3	NP_937879.1:p.(Pro74=)	NC_000001.10:g.156954132A>G	(Likely) benign	1 lab	b47812376f
7:92734013 SAMD9 T>G	7	92734013	92734013	T	G	SAMD9	c.1398A>C	NM_017654.4	NP_060124.2:p.(Pro466=)	NC_000007.13:g.92734013T>G	(Likely) benign	1 lab	b47c52371d
12:5153419 KCNA5 TGTCCCCC>T	12	5153419	5153427	TGTCCCCC	T	KCNA5	c.108_114del	NM_002234.4	NP_002225.2:p.(Cys36Ter)	NC_000012.11:g.5153421_5153427del	VUS	1 lab	b488dbf642
3:98545722 MISSING Ref too long to show for this DEL>A	3	98545722	98626469	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.98545724_98626469del	VUS	1 lab	b492537c4e
16:81399010 GAN C>T	16	81399010	81399010	C	T	GAN	c.1429C>T	NM_022041.4	NP_071324.1:p.(Arg477Ter)	NC_000016.9:g.81399010C>T	(Likely) pathogenic	1 lab	b493180108
5:148422274 SH3TC2 C>T	5	148422274	148422274	C	T	SH3TC2	c.512G>A	NM_024577.4	NP_078853.2:p.(Gly171Glu)	NC_000005.9:g.148422274C>T	(Likely) benign	1 lab	b495fd895c
2:105979740 FHL2 AC>A	2	105979740	105979742	AC	A	FHL2	c.364+1del	NM_001318899.2	NP_001305828.1:p.?	NC_000002.11:g.105979742del	VUS	1 lab	b496cc85e8
6:80656991 ELOVL4 C>A	6	80656991	80656991	C	A	ELOVL4	c.6G>T	NM_022726.4	NP_073563.1:p.(Gly2=)	NC_000006.11:g.80656991C>A	(Likely) benign	1 lab	b497733484
12:21327582 SLCO1B1 G>A	12	21327582	21327582	G	A	SLCO1B1	c.298G>A	NM_006446.5	NP_006437.3:p.(Gly100Ser)	NC_000012.11:g.21327582G>A	VUS	1 lab	b49c95df9b
13:60661414 MISSING T>Alt too long to show for this DUP	13	60661414	60763231	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.60661415_60763231dup	VUS	1 lab	b49d009b02
15:76673627 SCAPER T>C	15	76673627	76673627	T	C	SCAPER	c.2967+92A>G	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.76673627T>C	(Likely) benign	1 lab	b49e3b34ec
5:140482734 MISSING A>Alt too long to show for this DUP	5	140482734	140627965	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.140482736_140627965dup	VUS	1 lab	b4b3a404d2
17:44101431 MAPT A>G	17	44101431	44101431	A	G	MAPT	c.1220A>G	NM_005910.6	NP_005901.2:p.(His407Arg)	NC_000017.10:g.44101431A>G	(Likely) benign	1 lab	b4b448ee75
X:148564436 IDS C>G	X	148564436	148564436	C	G	IDS	c.1494G>C	NM_000202.8	NP_000193.1:p.(Arg498Ser)	NC_000023.10:g.148564436C>G	VUS	1 lab	b4b60c2799
6:16130684 MYLIP T>C	6	16130684	16130684	T	C	MYLIP	c.88-104T>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16130684T>C	(Likely) benign	1 lab	b4bafd8673
1:180243731 LHX4 C>A	1	180243731	180243731	C	A	LHX4	c.*17C>A	NM_033343.4	NP_203129.1:p.?	NC_000001.10:g.180243731C>A	(Likely) benign	1 lab	bbcc7fdf66
10:112404210 RBM20 C>T	10	112404210	112404210	C	T	RBM20	c.-3C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112404210C>T	(Likely) benign	1 lab	b4c321956d
20:34063434 CEP250 G>A	20	34063434	34063434	G	A	CEP250	c.1679G>A	NM_007186.6	NP_009117.2:p.(Arg560Lys)	NC_000020.10:g.34063434G>A	(Likely) benign	1 lab	b4c851640a
12:64899030 MISSING Ref too long to show for this DEL>G	12	64899030	69328845	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.64899032_69328845del	(Likely) pathogenic	1 lab	b4c97083e2
1:12061598 MFN2 C>T	1	12061598	12061598	C	T	MFN2	c.957C>T	NM_014874.4	NP_055689.1:p.(Gly319=)	NC_000001.10:g.12061598C>T	(Likely) benign	1 lab	b4cb3d1a9b
3:38770284 SCN10A T>C	3	38770284	38770284	T	C	SCN10A	c.2389A>G	NM_006514.4	NP_006505.4:p.(Ile797Val)	NC_000003.11:g.38770284T>C	(Likely) benign	1 lab	b4ce2099cb
17:48267630 COL1A1 C>A	17	48267630	48267630	C	A	COL1A1	c.2451+58G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267630C>A	(Likely) pathogenic	1 lab	b4cf89c327
2:189860544 COL3A1 A>G	2	189860544	189860544	A	G	COL3A1	c.1608+28A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860544A>G	(Likely) benign	1 lab	b4d1ca9855
2:189874245 COL3A1 T>C	2	189874245	189874245	T	C	COL3A1	c.3823+298T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189874245T>C	(Likely) benign	1 lab	b4d37ede3e
11:116706767 APOA1 C>G	11	116706767	116706767	C	G	APOA1	c.234G>C	NM_001318021.1	NP_001304950.1:p.(Leu78=)	NC_000011.9:g.116706767C>G	(Likely) benign	1 lab	b4d7607316
17:11648299 DNAH9 C>T	17	11648299	11648299	C	T	DNAH9	c.6297C>T	NM_001372.4	NP_001363.2:p.(Pro2099=)	NC_000017.10:g.11648299C>T	(Likely) benign	1 lab	b4e3f50420
2:44049618 ABCG5 C>CG	2	44049618	44049619	C	CG	ABCG5	c.1463+317_1463+318insC	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049618_44049619insG	(Likely) benign	1 lab	b4e8a0a084
8:144296992 GPIHBP1 G>A	8	144296992	144296992	G	A	GPIHBP1	c.286G>A	NM_178172.6	NP_835466.2:p.(Gly96Arg)	NC_000008.10:g.144296992G>A	VUS	1 lab	b4ea2f4604
16:72135520 DHX38 C>T	16	72135520	72135520	C	T	DHX38	c.1499+9C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72135520C>T	(Likely) benign	1 lab	b4f038fefa
12:125272011 SCARB1 T>C	12	125272011	125272011	T	C	SCARB1	c.1203-8A>G	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125272011T>C	(Likely) benign	1 lab	b4f1af6ea4
18:29101086 DSG2 A>G	18	29101086	29101086	A	G	DSG2	c.403A>G	NM_001943.5	NP_001934.2:p.(Arg135Gly)	NC_000018.9:g.29101086A>G	VUS	1 lab	b4f2f9d77a
X:111000981 ALG13 T>C	X	111000981	111000981	T	C	ALG13	c.2905T>C	NM_001257231.2	NP_001244160.1:p.(Ser969Pro)	NC_000023.10:g.111000981T>C	VUS	1 lab	b4f63ad3b0
1:65830297 DNAJC6 G>GT	1	65830297	65830312	G	GT	DNAJC6	c.194-6dup	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830312dup	(Likely) benign	1 lab	b4f6fc03ff
1:151384242 POGZ A>T	1	151384242	151384242	A	T	POGZ	c.1785T>A	NM_015100.4	NP_055915.2:p.(Cys595Ter)	NC_000001.10:g.151384242A>T	(Likely) pathogenic	1 lab	b4f72202a4
22:40878413 MRTFA Ref too long to show for this DEL>C	22	40878413	40999309	Ref too long to show for this DEL	C	MRTFA	c.-83-8569_242-19124del	NM_020831.6	NP_065882.2:p.?	NC_000022.10:g.40878415_40999309del	(Likely) pathogenic	1 lab	b4f7460cf0
X:8501120 ANOS1 C>A	X	8501120	8501120	C	A	ANOS1	c.1985-26G>T	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8501120C>A	(Likely) benign	1 lab	b4f74cf26c
5:127744761 FBN2 T>G	5	127744761	127744761	T	G	FBN2	c.953-269A>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127744761T>G	(Likely) benign	1 lab	b4fe077c7a
15:66774172 MAP2K1 C>T	15	66774172	66774172	C	T	MAP2K1	c.648C>T	NM_002755.4	NP_002746.1:p.(Ile216=)	NC_000015.9:g.66774172C>T	(Likely) benign	1 lab	b500577e75
7:146516746 CNTNAP2 Ref too long to show for this DEL>T	7	146516746	146520818	Ref too long to show for this DEL	T	CNTNAP2	c.209-20054_209-15985del	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146516749_146520818del	VUS	1 lab	b501df5066
2:74595967 DCTN1 G>T	2	74595967	74595967	G	T	DCTN1	c.1742C>A	NM_004082.5	NP_004073.2:p.(Ala581Asp)	NC_000002.11:g.74595967G>T	VUS	1 lab	b5075d8eb9
2:179403738 TTN T>A	2	179403738	179403738	T	A	TTN	c.98924A>T	NM_001267550.2	NP_001254479.2:p.(Gln32975Leu)	NC_000002.11:g.179403738T>A	VUS	1 lab	b5110e23f5
3:170201265 SLC7A14 G>A	3	170201265	170201265	G	A	SLC7A14	c.953C>T	NM_020949.3	NP_066000.2:p.(Thr318Met)	NC_000003.11:g.170201265G>A	VUS	1 lab	b5130cd829
16:57004991 CETP C>T	16	57004991	57004991	C	T	CETP	c.574C>T	NM_000078.3	NP_000069.2:p.(Leu192=)	NC_000016.9:g.57004991C>T	(Likely) benign	1 lab	b5145ffb14
18:47110119 LIPG G>A	18	47110119	47110119	G	A	LIPG	c.1351G>A	NM_006033.4	NP_006024.1:p.(Val451Met)	NC_000018.9:g.47110119G>A	VUS	1 lab	b51d596562
8:38285425 FGFR1 G>GCA	8	38285425	38285434	G	GCA	FGFR1	c.621+12_621+13dup	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38285433_38285434dup	(Likely) benign	1 lab	b51d9b6f18
4:175414246 HPGD A>G	4	175414246	175414246	A	G	HPGD	c.662+56T>C	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175414246A>G	(Likely) benign	1 lab	b51ded5d9d
2:179665237 TTN G>A	2	179665237	179665237	G	A	TTN	c.468C>T	NM_001267550.2	NP_001254479.2:p.(Gly156=)	NC_000002.11:g.179665237G>A	(Likely) benign	1 lab	b5350b1e91
9:107583713 ABCA1 A>G	9	107583713	107583713	A	G	ABCA1	c.2903T>C	NM_005502.4	NP_005493.2:p.(Met968Thr)	NC_000009.11:g.107583713A>G	VUS	1 lab	b53d3d4321
20:19937312 RIN2 G>A	20	19937312	19937312	G	A	RIN2	c.359G>A	NM_001242581.2	NP_001229510.1:p.(Cys120Tyr)	NC_000020.10:g.19937312G>A	(Likely) benign	1 lab	b53fa3a3ff
10:33083542 MISSING A>Alt too long to show for this DUP	10	33083542	33293061	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.33083543_33293061dup	VUS	1 lab	b542a3ff4d
12:110226340 TRPV4 G>A	12	110226340	110226340	G	A	TRPV4	c.2073C>T	NM_021625.5	NP_067638.3:p.(Tyr691=)	NC_000012.11:g.110226340G>A	(Likely) benign	1 lab	b543757ecc
1:161276660 MPZ T>C	1	161276660	161276660	T	C	MPZ	c.286A>G	NM_000530.8	NP_000521.2:p.(Lys96Glu)	NC_000001.10:g.161276660T>C	(Likely) pathogenic	1 lab	b544637388
2:207014657 NDUFS1 TAAAAAA>T	2	207014657	207014682	TAAAAAA	T	NDUFS1	c.154-14_154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014677_207014682del	(Likely) benign	1 lab	b544d6777f
5:33989405 AMACR C>T	5	33989405	33989405	C	T	AMACR	c.942G>A	NM_014324.6	NP_055139.4:p.(Ser314=)	NC_000005.9:g.33989405C>T	(Likely) benign	1 lab	b54571bb11
1:74819005 TNNI3K G>A	1	74819005	74819005	G	A	TNNI3K	c.988G>A	NM_015978.3	NP_057062.1:p.(Val330Ile)	NC_000001.10:g.74819005G>A	VUS	1 lab	b54d539c76
16:57005479 CETP C>A	16	57005479	57005479	C	A	CETP	c.658+186C>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57005479C>A	(Likely) benign	1 lab	b54fa88fb3
2:25049010 ADCY3 G>A	2	25049010	25049010	G	A	ADCY3	c.2496-15C>T	NM_004036.5	NP_004027.2:p.?	NC_000002.11:g.25049010G>A	(Likely) benign	1 lab	b55b09b005
12:30822420 IPO8 G>A	12	30822420	30822420	G	A	IPO8	c.1045-204C>T	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30822420G>A	(Likely) benign	1 lab	b568513aef
6:7580954 DSP C>T	6	7580954	7580954	C	T	DSP	c.4531C>T	NM_004415.4	NP_004406.2:p.(Gln1511Ter)	NC_000006.11:g.7580954C>T	(Likely) pathogenic	1 lab	b5735ac194
9:107582244 ABCA1 A>C	9	107582244	107582244	A	C	ABCA1	c.3067T>G	NM_005502.4	NP_005493.2:p.(Ser1023Ala)	NC_000009.11:g.107582244A>C	VUS	1 lab	b577d73679
2:63380070 WDPCP C>G	2	63380070	63380070	C	G	WDPCP	c.2097G>C	NM_001354044.2	NP_001340973.1:p.(Leu699=)	NC_000002.11:g.63380070C>G	(Likely) benign	1 lab	b577fae4bb
15:48736818 FBN1 G>GGTGCAC	15	48736818	48736824	G	GGTGCAC	FBN1	c.5951_5956dup	NM_000138.5	NP_000129.3:p.(Ala1985_Pro1986insArgAla)	NC_000015.9:g.48736819_48736824dup	(Likely) pathogenic	1 lab	b5794f116d
1:245597451 KIF26B G>Alt too long to show for this DUP	1	245597451	245706269	G	Alt too long to show for this DUP	KIF26B	c.1166+14405_1350+2017dup	NM_018012.4	NP_060482.2:p.?	NC_000001.10:g.245597452_245706269dup	VUS	1 lab	b57e26cbc4
6:1578677 MISSING Ref too long to show for this DEL>C	6	1578677	2395056	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.1578681_2395056del	(Likely) pathogenic	1 lab	b57ea8b54a
15:58834068 LIPC G>C	15	58834068	58834068	G	C	LIPC	c.358G>C	NM_000236.3	NP_000227.2:p.(Val120Leu)	NC_000015.9:g.58834068G>C	(Likely) benign	1 lab	b58d8ef3c8
2:44079981 ABCG8 G>A	2	44079981	44079981	G	A	ABCG8	c.938G>A	NM_022437.3	NP_071882.1:p.(Arg313His)	NC_000002.11:g.44079981G>A	VUS	1 lab	b58d9d4f26
X:119589396 LAMP2 A>G	X	119589396	119589396	A	G	LAMP2	c.213T>C	NM_002294.3	NP_002285.1:p.(Thr71=)	NC_000023.10:g.119589396A>G	(Likely) benign	1 lab	b58f95dc06
15:85383104 ALPK3 G>C	15	85383104	85383104	G	C	ALPK3	c.594G>C	NM_020778.5	NP_065829.4:p.(Gln198His)	NC_000015.9:g.85383104G>C	VUS	1 lab	b590620e35
11:108225595 ATM TGTAGAG>T	11	108225595	108225604	TGTAGAG	T	ATM	c.8848_8850+3del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225599_108225604del	(Likely) pathogenic	1 lab	b593f28dd4
5:140797963 PCDHGB7 A>G	5	140797963	140797963	A	G	PCDHGB7	c.537A>G	NM_018927.4	NP_061750.1:p.(Ser179=)	NC_000005.9:g.140797963A>G	(Likely) benign	1 lab	b5a0cb871b
19:7529516 ARHGEF18 C>T	19	7529516	7529516	C	T	ARHGEF18	c.2118C>T	NM_001130955.2	NP_001124427.2:p.(Ser706=)	NC_000019.9:g.7529516C>T	(Likely) benign	1 lab	b5a81565f2
X:105280479 SERPINA7 C>T	X	105280479	105280479	C	T	SERPINA7	c.571G>A	NM_000354.6	NP_000345.2:p.(Asp191Asn)	NC_000023.10:g.105280479C>T	(Likely) benign	1 lab	b5a966662b
4:65146795 TECRL A>T	4	65146795	65146795	A	T	TECRL	c.928T>A	NM_001010874.5	NP_001010874.2:p.(Trp310Arg)	NC_000004.11:g.65146795A>T	VUS	1 lab	b5ac528a69
19:11223969 LDLR T>A	19	11223969	11223969	T	A	LDLR	c.1202T>A	NM_000527.5	NP_000518.1:p.(Leu401His)	NC_000019.9:g.11223969T>A	(Likely) pathogenic	1 lab	b5aeacb60b
9:134014672 NUP214 A>T	9	134014672	134014672	A	T	NUP214	c.1010A>T	NM_005085.4	NP_005076.3:p.(Asn337Ile)	NC_000009.11:g.134014672A>T	(Likely) benign	1 lab	b5b2dcbc4a
3:123357029 MYLK G>T	3	123357029	123357029	G	T	MYLK	c.4850C>A	NM_053025.4	NP_444253.3:p.(Ser1617Tyr)	NC_000003.11:g.123357029G>T	VUS	1 lab	b5b45e180a
3:2110191 MISSING T>Alt too long to show for this DUP	3	2110191	2562335	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.2110193_2562335dup	(Likely) pathogenic	1 lab	b5b6aa01c2
1:3328558 PRDM16 G>A	1	3328558	3328558	G	A	PRDM16	c.1797G>A	NM_022114.4	NP_071397.3:p.(Ser599=)	NC_000001.10:g.3328558G>A	(Likely) benign	1 lab	b5b9c82d35
4:15995626 PROM1 T>C	4	15995626	15995626	T	C	PROM1	c.1724A>G	NM_001145847.2	NP_001139319.1:p.(His575Arg)	NC_000004.11:g.15995626T>C	(Likely) benign	1 lab	b5bde14f36
8:134145835 TG C>T	8	134145835	134145835	C	T	TG	c.8119C>T	NM_003235.5	NP_003226.4:p.(Arg2707Ter)	NC_000008.10:g.134145835C>T	(Likely) pathogenic	1 lab	b5c0bdc8fb
3:142810997 MISSING A>Alt too long to show for this DUP	3	142810997	143592107	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.142810999_143592107dup	VUS	1 lab	b5cbc8acf5
6:16145530 MYLIP C>T	6	16145530	16145530	C	T	MYLIP	c.1230C>T	NM_013262.4	NP_037394.2:p.(Ser410=)	NC_000006.11:g.16145530C>T	(Likely) benign	1 lab	b5ccf755ff
16:75239861 CTRB2 G>A	16	75239861	75239861	G	A	CTRB2	c.186C>T	NM_001025200.4	NP_001020371.3:p.(Gly62=)	NC_000016.9:g.75239861G>A	(Likely) benign	1 lab	b5d2ff738b
7:73471155 ELN A>C	7	73471155	73471155	A	C	ELN	c.1357+112A>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73471155A>C	(Likely) benign	1 lab	b5d3284da4
17:61497541 TANC2 C>T	17	61497541	61497541	C	T	TANC2	c.4198C>T	NM_025185.4	NP_079461.2:p.(Gln1400Ter)	NC_000017.10:g.61497541C>T	(Likely) pathogenic	1 lab	b5d7d52716
2:31758838 SRD5A2 T>C	2	31758838	31758838	T	C	SRD5A2	c.282-2A>G	NM_000348.4	NP_000339.2:p.?	NC_000002.11:g.31758838T>C	(Likely) pathogenic	1 lab	b5db187c93
11:18316576 HPS5 T>C	11	18316576	18316576	T	C	HPS5	c.1775A>G	NM_181507.2	NP_852608.1:p.(Glu592Gly)	NC_000011.9:g.18316576T>C	VUS	1 lab	b5dbbb7b8c
1:55521109 PCSK9 G>A	1	55521109	55521109	G	A	PCSK9	c.800-557G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521109G>A	(Likely) benign	1 lab	b5dca2ffce
2:44078779 ABCG8 A>G	2	44078779	44078779	A	G	ABCG8	c.379A>G	NM_022437.3	NP_071882.1:p.(Ile127Val)	NC_000002.11:g.44078779A>G	(Likely) benign	1 lab	b5dcf06992
12:21953959 ABCC9 ATTGTT>A	12	21953959	21953966	ATTGTT	A	ABCC9	c.*14_*18del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.21953962_21953966del	(Likely) benign	1 lab	b5dee19cc0
2:73961620 TPRKB G>A	2	73961620	73961620	G	A	TPRKB	c.77C>T	NM_001330386.2	NP_001317315.1:p.(Ala26Val)	NC_000002.11:g.73961620G>A	VUS	1 lab	b5e1ab1555
2:179535810 TTN A>T	2	179535810	179535810	A	T	TTN	c.31405+7T>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179535810A>T	(Likely) benign	1 lab	b5e6e11390
19:36212118 KMT2B A>C	19	36212118	36212118	A	C	KMT2B	c.1869A>C	NM_014727.3	NP_055542.1:p.(Pro623=)	NC_000019.9:g.36212118A>C	(Likely) benign	1 lab	b5f24972ac
4:100512483 MTTP G>A	4	100512483	100512483	G	A	MTTP	c.593G>A	NM_000253.4	NP_000244.2:p.(Arg198Lys)	NC_000004.11:g.100512483G>A	VUS	1 lab	b5f6073162
3:14207101 XPC G>C	3	14207101	14207101	G	C	XPC	c.622-16C>G	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14207101G>C	(Likely) benign	1 lab	b5fa483620
3:46899876 MYL3 T>G	3	46899876	46899876	T	G	MYL3	c.557A>C	NM_000258.3	NP_000249.1:p.(Glu186Ala)	NC_000003.11:g.46899876T>G	VUS	1 lab	b5faa54a7f
19:2114209 AP3D1 T>C	19	2114209	2114209	T	C	AP3D1	c.2516A>G	NM_001261826.3	NP_001248755.1:p.(Lys839Arg)	NC_000019.9:g.2114209T>C	VUS	1 lab	b608bd9531
7:94034170 COL1A2 G>T	7	94034170	94034170	G	T	COL1A2	c.398G>T	NM_000089.4	NP_000080.2:p.(Gly133Val)	NC_000007.13:g.94034170G>T	(Likely) pathogenic	1 lab	b60964a26c
22:29885294 NEFH G>C	22	29885294	29885294	G	C	NEFH	c.1665G>C	NM_021076.4	NP_066554.2:p.(Lys555Asn)	NC_000022.10:g.29885294G>C	VUS	1 lab	b60b36a697
9:107565580 ABCA1 C>T	9	107565580	107565580	C	T	ABCA1	c.4577G>A	NM_005502.4	NP_005493.2:p.(Trp1526Ter)	NC_000009.11:g.107565580C>T	(Likely) pathogenic	1 lab	b60fe46ca9
22:50901698 SBF1 A>G	22	50901698	50901698	A	G	SBF1	c.1899+14T>C	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50901698A>G	(Likely) benign	1 lab	b6101b46eb
2:179399269 TTN C>G	2	179399269	179399269	C	G	TTN	c.102073G>C	NM_001267550.2	NP_001254479.2:p.(Glu34025Gln)	NC_000002.11:g.179399269C>G	VUS	1 lab	b613ee5d56
21:47535942 COL6A2 G>T	21	47535942	47535942	G	T	COL6A2	c.875G>T	NM_058175.3	NP_478055.2:p.(Gly292Val)	NC_000021.8:g.47535942G>T	(Likely) pathogenic	1 lab	b61659fdc4
8:75263624 GDAP1 C>T	8	75263624	75263624	C	T	GDAP1	c.233C>T	NM_018972.4	NP_061845.2:p.(Pro78Leu)	NC_000008.10:g.75263624C>T	(Likely) pathogenic	1 lab	b61bf6e365
11:47356553 MYBPC3 G>A	11	47356553	47356553	G	A	MYBPC3	c.2905+40C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356553G>A	(Likely) benign	1 lab	b61ed1ea7a
11:68704303 IGHMBP2 G>A	11	68704303	68704303	G	A	IGHMBP2	c.2355G>A	NM_002180.3	NP_002171.2:p.(Arg785=)	NC_000011.9:g.68704303G>A	(Likely) benign	1 lab	b620763845
11:68201260 LRP5 C>T	11	68201260	68201260	C	T	LRP5	c.3954C>T	NM_002335.4	NP_002326.2:p.(Asp1318=)	NC_000011.9:g.68201260C>T	(Likely) benign	1 lab	b6228bbee5
1:237655219 RYR2 C>T	1	237655219	237655219	C	T	RYR2	c.1822C>T	NM_001035.3	NP_001026.2:p.(His608Tyr)	NC_000001.10:g.237655219C>T	VUS	1 lab	b6281aeb93
7:92116813 PEX1 A>T	7	92116813	92116813	A	T	PEX1	c.3186T>A	NM_001282678.2	NP_001269607.1:p.(Ser1062Arg)	NC_000007.13:g.92116813A>T	(Likely) benign	1 lab	b629759c30
2:21225199 APOB G>A	2	21225199	21225199	G	A	APOB	c.13095C>T	NM_000384.3	NP_000375.3:p.(Asn4365=)	NC_000002.11:g.21225199G>A	(Likely) benign	1 lab	b62bb1e54b
10:26851544 MISSING T>Alt too long to show for this DUP	10	26851544	27002724	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.26851545_27002724dup	VUS	1 lab	b62bc44f15
19:11238682 LDLR A>C	19	11238682	11238682	A	C	LDLR	c.2312-2A>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238682A>C	(Likely) pathogenic	1 lab	b62d036dcc
7:128484336 FLNC C>T	7	128484336	128484336	C	T	FLNC	c.3192+16C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128484336C>T	(Likely) benign	1 lab	b68b2b2719
7:150646032 KCNH2 C>T	7	150646032	150646032	C	T	KCNH2	c.2504G>A	NM_000238.4	NP_000229.1:p.(Arg835Gln)	NC_000007.13:g.150646032C>T	(Likely) pathogenic	1 lab	b63129fc53
15:58724269 LIPC T>C	15	58724269	58724269	T	C	LIPC	c.38T>C	NM_000236.3	NP_000227.2:p.(Val13Ala)	NC_000015.9:g.58724269T>C	VUS	1 lab	b631c1dc1b
18:74654049 MISSING A>Alt too long to show for this DUP	18	74654049	75054472	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.74654050_75054472dup	VUS	1 lab	b63c868784
6:151713797 MISSING Ref too long to show for this DEL>C	6	151713797	151768426	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.151713800_151768426del	VUS	1 lab	b641b6813b
7:91732045 AKAP9 G>C	7	91732045	91732045	G	C	AKAP9	c.11235G>C	NM_005751.5	NP_005742.4:p.(Gly3745=)	NC_000007.13:g.91732045G>C	(Likely) benign	1 lab	b643d31b44
2:21257780 APOB A>G	2	21257780	21257780	A	G	APOB	c.819-7T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257780A>G	VUS	1 lab	b643eee6d3
6:123588859 TRDN T>G	6	123588859	123588859	T	G	TRDN	c.1776A>C	NM_006073.4	NP_006064.2:p.(Ile592=)	NC_000006.11:g.123588859T>G	(Likely) benign	1 lab	b64a4749d3
13:32913735 BRCA2 G>C	13	32913735	32913735	G	C	BRCA2	c.5243G>C	NM_000059.4	NP_000050.3:p.(Ser1748Thr)	NC_000013.10:g.32913735G>C	(Likely) benign	1 lab	b64cd4f635
19:17992892 SLC5A5 G>A	19	17992892	17992892	G	A	SLC5A5	c.1171+11G>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17992892G>A	(Likely) benign	1 lab	b64e6fd129
8:145618657 CPSF1 G>A	8	145618657	145618657	G	A	CPSF1	c.4284+10C>T	NM_013291.3	NP_037423.2:p.?	NC_000008.10:g.145618657G>A	(Likely) benign	1 lab	b656e94087
15:45427779 DUOX1 C>T	15	45427779	45427779	C	T	DUOX1	c.603C>T	NM_017434.5	NP_059130.2:p.(Pro201=)	NC_000015.9:g.45427779C>T	(Likely) benign	1 lab	b6589c90e6
19:49489230 GYS1 G>A	19	49489230	49489230	G	A	GYS1	c.555C>T	NM_002103.5	NP_002094.2:p.(Gly185=)	NC_000019.9:g.49489230G>A	(Likely) benign	1 lab	b65bc297d7
1:156834221 NTRK1 G>GT	1	156834221	156834222	G	GT	NTRK1	c.287+2dup	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156834222dup	(Likely) pathogenic	1 lab	b65c4e5592
2:51057823 MISSING Ref too long to show for this DEL>C	2	51057823	51335188	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.51057824_51335188del	(Likely) pathogenic	1 lab	b6618415a0
5:37180207 CPLANE1 T>C	5	37180207	37180207	T	C	CPLANE1	c.5649A>G	NM_023073.4	NP_075561.3:p.(Lys1883=)	NC_000005.9:g.37180207T>C	(Likely) benign	1 lab	b66284968b
9:107556333 ABCA1 C>T	9	107556333	107556333	C	T	ABCA1	c.5506+335G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556333C>T	(Likely) benign	1 lab	b668d6f4e0
17:48267470 COL1A1 C>A	17	48267470	48267470	C	A	COL1A1	c.2452-1G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267470C>A	(Likely) pathogenic	1 lab	b677456516
13:52508988 ATP7B C>T	13	52508988	52508988	C	T	ATP7B	c.4302G>A	NM_000053.4	NP_000044.2:p.(Thr1434=)	NC_000013.10:g.52508988C>T	(Likely) benign	1 lab	b6785bc4af
1:8518539 RERE Ref too long to show for this DEL>G	1	8518539	8804332	Ref too long to show for this DEL	G	RERE	c.-145+72889_1203+7445del	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8518542_8804332del	(Likely) pathogenic	1 lab	b6791a432a
13:23929307 SACS G>C	13	23929307	23929307	G	C	SACS	c.1444C>G	NM_014363.6	NP_055178.3:p.(Leu482Val)	NC_000013.10:g.23929307G>C	VUS	1 lab	b67cf17c53
9:79946961 VPS13A C>T	9	79946961	79946961	C	T	VPS13A	c.5910C>T	NM_001018037.2	NP_001018047.1:p.(Tyr1970=)	NC_000009.11:g.79946961C>T	(Likely) benign	1 lab	b6862fa314
2:179616433 TTN A>G	2	179616433	179616433	A	G	TTN	c.10694T>C	NM_133379.5	NP_596870.2:p.(Leu3565Ser)	NC_000002.11:g.179616433A>G	VUS	1 lab	b68bfe9fa5
1:63876949 ALG6 A>AT	1	63876949	63876956	A	AT	ALG6	c.634dup	NM_013339.4	NP_037471.2:p.(Cys212LeufsTer9)	NC_000001.10:g.63876956dup	(Likely) pathogenic	1 lab	b68c1e9b0a
3:38640477 SCN5A C>T	3	38640477	38640477	C	T	SCN5A	c.1955G>A	NM_198056.3	NP_932173.1:p.(Gly652Asp)	NC_000003.11:g.38640477C>T	VUS	1 lab	b68f9cb6c6
7:116397675 MET T>C	7	116397675	116397675	T	C	MET	c.1966-17T>C	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116397675T>C	(Likely) benign	1 lab	b6902f78f4
1:210857483 KCNH1 G>GGA	1	210857483	210857501	G	GGA	KCNH1	c.2113-5_2113-4dup	NM_172362.3	NP_758872.1:p.?	NC_000001.10:g.210857500_210857501dup	(Likely) benign	1 lab	b69a9557af
10:69336740 CTNNA3 Ref too long to show for this DEL>T	10	69336740	69401629	Ref too long to show for this DEL	T	CTNNA3	c.99+5544_292+29874del	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.69336741_69401629del	VUS	1 lab	b6a31b48a9
16:77465471 ADAMTS18 G>C	16	77465471	77465471	G	C	ADAMTS18	c.216C>G	NM_199355.4	NP_955387.1:p.(Ala72=)	NC_000016.9:g.77465471G>C	(Likely) benign	1 lab	b6a54c14b0
18:45377400 SMAD2 A>G	18	45377400	45377400	A	G	SMAD2	c.784+245T>C	NM_001003652.4	NP_001003652.1:p.?	NC_000018.9:g.45377400A>G	(Likely) benign	1 lab	b6a6eb3f7b
2:15415955 NBAS AAAAG>A	2	15415955	15415963	AAAAG	A	NBAS	c.5390-17_5390-14del	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15415960_15415963del	(Likely) benign	1 lab	b6aadabc11
8:10467601 RP1L1 A>T	8	10467601	10467601	A	T	RP1L1	c.4007T>A	NM_178857.6	NP_849188.4:p.(Val1336Glu)	NC_000008.10:g.10467601A>T	(Likely) benign	1 lab	b6ae12f701
1:201328338 TNNT2 C>T	1	201328338	201328338	C	T	TNNT2	c.867G>A	NM_001276347.2	NP_001263276.1:p.(Ter289=)	NC_000001.10:g.201328338C>T	(Likely) benign	1 lab	b6c15adc80
3:38647688 SCN5A G>A	3	38647688	38647688	G	A	SCN5A	c.1141-49C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38647688G>A	(Likely) benign	1 lab	b6c634ead8
12:133256168 POLE T>G	12	133256168	133256168	T	G	POLE	c.493A>C	NM_006231.4	NP_006222.2:p.(Lys165Gln)	NC_000012.11:g.133256168T>G	VUS	1 lab	b6c94435d5
19:18583696 ELL T>A	19	18583696	18583696	T	A	ELL	c.136-4A>T	NM_006532.4	NP_006523.1:p.?	NC_000019.9:g.18583696T>A	(Likely) benign	1 lab	b6cd02fa6a
4:100522815 MTTP A>G	4	100522815	100522815	A	G	MTTP	c.1288A>G	NM_000253.4	NP_000244.2:p.(Ile430Val)	NC_000004.11:g.100522815A>G	VUS	1 lab	b6d35a22f8
18:10671727 PIEZO2 G>A	18	10671727	10671727	G	A	PIEZO2	c.8056C>T	NM_022068.4	NP_071351.2:p.(Arg2686Cys)	NC_000018.9:g.10671727G>A	(Likely) pathogenic	1 lab	b6d3c1c32a
7:75933173 HSPB1 GGA>G	7	75933173	75933175	GGA	G	HSPB1	c.420_421del	NM_001540.5	NP_001531.1:p.(Lys141IlefsTer19)	NC_000007.13:g.75933174_75933175del	VUS	1 lab	b6d6f926b5
18:10704619 PIEZO2 C>G	18	10704619	10704619	C	G	PIEZO2	c.5692G>C	NM_022068.4	NP_071351.2:p.(Glu1898Gln)	NC_000018.9:g.10704619C>G	(Likely) benign	1 lab	b6dd1f7dec
19:11223980 LDLR A>G	19	11223980	11223980	A	G	LDLR	c.1213A>G	NM_000527.5	NP_000518.1:p.(Asn405Asp)	NC_000019.9:g.11223980A>G	VUS	1 lab	b6e292cfc9
16:21841454 MISSING Ref too long to show for this DEL>G	16	21841454	22710614	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.21841455_22710614del	(Likely) pathogenic	1 lab	b6e85a912a
11:88924385 TYR T>C	11	88924385	88924385	T	C	TYR	c.835T>C	NM_000372.5	NP_000363.1:p.(Leu279=)	NC_000011.9:g.88924385T>C	(Likely) benign	1 lab	b6e8fa629c
2:179647154 TTN G>A	2	179647154	179647154	G	A	TTN	c.3165C>T	NM_001267550.2	NP_001254479.2:p.(Arg1055=)	NC_000002.11:g.179647154G>A	(Likely) benign	1 lab	b6e9558209
2:179529632 TTN A>C	2	179529632	179529632	A	C	TTN	c.36065T>G	NM_001267550.2	NP_001254479.2:p.(Ile12022Ser)	NC_000002.11:g.179529632A>C	VUS	1 lab	b6ea540555
X:106092483 TBC1D8B G>T	X	106092483	106092483	G	T	TBC1D8B	c.1846G>T	NM_198881.2	NP_942582.1:p.(Asp616Tyr)	NC_000023.10:g.106092483G>T	(Likely) benign	1 lab	b6eafaeb57
15:40308859 EIF2AK4 G>T	15	40308859	40308859	G	T	EIF2AK4	c.3916G>T	NM_001013703.4	NP_001013725.2:p.(Gly1306Cys)	NC_000015.9:g.40308859G>T	(Likely) benign	1 lab	b6f060b7a2
10:18439784 CACNB2 C>CTTTTTTTTTT	10	18439784	18439809	C	CTTTTTTTTTT	CACNB2	c.37-12_37-3dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439800_18439809dup	(Likely) benign	1 lab	b6f520b471
14:99911671 MISSING Ref too long to show for this DEL>A	14	99911671	99959865	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.99911674_99959865del	VUS	1 lab	b6fcbc65bf
18:29104646 DSG2 CAT>C	18	29104646	29104648	CAT	C	DSG2	c.829-19_829-18del	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29104647_29104648del	(Likely) benign	1 lab	b6ff0260c2
2:21236251 APOB G>C	2	21236251	21236251	G	C	APOB	c.3997C>G	NM_000384.3	NP_000375.3:p.(Arg1333Gly)	NC_000002.11:g.21236251G>C	VUS	1 lab	b70c718436
11:60414064 MISSING Ref too long to show for this DEL>G	11	60414064	60461496	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.60414066_60461496del	VUS	1 lab	b70d5a0a8e
3:178952072 PIK3CA A>G	3	178952072	178952072	A	G	PIK3CA	c.3127A>G	NM_006218.4	NP_006209.2:p.(Met1043Val)	NC_000003.11:g.178952072A>G	(Likely) pathogenic	1 lab	b70ec1372a
13:32930651 BRCA2 G>A	13	32930651	32930651	G	A	BRCA2	c.7522G>A	NM_000059.4	NP_000050.3:p.(Gly2508Ser)	NC_000013.10:g.32930651G>A	(Likely) pathogenic	1 lab	b71169e40f
5:36985933 NIPBL G>A	5	36985933	36985933	G	A	NIPBL	c.2651G>A	NM_133433.4	NP_597677.2:p.(Gly884Glu)	NC_000005.9:g.36985933G>A	VUS	1 lab	b71745b31e
5:178408703 GRM6 C>T	5	178408703	178408703	C	T	GRM6	c.2589G>A	NM_000843.4	NP_000834.2:p.(Thr863=)	NC_000005.9:g.178408703C>T	(Likely) benign	1 lab	b71d8dd340
2:131592271 MISSING Ref too long to show for this DEL>C	2	131592271	133306636	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.131592274_133306636del	VUS	1 lab	b723f8d004
9:107550667 ABCA1 T>A	9	107550667	107550667	T	A	ABCA1	c.6069+40A>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107550667T>A	(Likely) benign	1 lab	b727118019
2:179476315 TTN C>T	2	179476315	179476315	C	T	TTN	c.50641G>A	NM_001267550.2	NP_001254479.2:p.(Gly16881Arg)	NC_000002.11:g.179476315C>T	VUS	1 lab	b7281c38b7
X:150869273 PRRG3 C>T	X	150869273	150869273	C	T	PRRG3	c.464C>T	NM_024082.4	NP_076987.3:p.(Pro155Leu)	NC_000023.10:g.150869273C>T	(Likely) benign	1 lab	b7282bdd2f
X:152614719 MISSING T>Alt too long to show for this DUP	X	152614719	152903883	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152614725_152903883dup	(Likely) pathogenic	1 lab	b72e85aadb
6:75884788 COL12A1 T>G	6	75884788	75884788	T	G	COL12A1	c.2676A>C	NM_004370.6	NP_004361.3:p.(Gly892=)	NC_000006.11:g.75884788T>G	(Likely) benign	1 lab	b7332118df
4:113544993 ZGRF1 G>T	4	113544993	113544993	G	T	ZGRF1	c.142C>A	NM_018392.5	NP_060862.3:p.(Leu48Met)	NC_000004.11:g.113544993G>T	(Likely) benign	1 lab	b73337927f
10:126100522 OAT C>T	10	126100522	126100522	C	T	OAT	c.199+20G>A	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126100522C>T	(Likely) benign	1 lab	b7347d22dd
5:59284479 PDE4D A>G	5	59284479	59284479	A	G	PDE4D	c.108T>C	NM_001165899.2	NP_001159371.1:p.(Tyr36=)	NC_000005.9:g.59284479A>G	(Likely) benign	1 lab	b73a3dde89
8:133895046 TG G>A	8	133895046	133895046	G	A	TG	c.890-13G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.133895046G>A	VUS	1 lab	b73e09f316
2:21266751 APOB C>CCAG	2	21266751	21266770	C	CCAG	APOB	c.64_66dup	NM_000384.3	NP_000375.3:p.(Leu22dup)	NC_000002.11:g.21266768_21266770dup	(Likely) benign	1 lab	b7448bd269
X:76845367 ATRX C>A	X	76845367	76845367	C	A	ATRX	c.6154G>T	NM_000489.6	NP_000480.3:p.(Asp2052Tyr)	NC_000023.10:g.76845367C>A	(Likely) pathogenic	1 lab	b7464513db
9:2717819 KCNV2 G>A	9	2717819	2717819	G	A	KCNV2	c.80G>A	NM_133497.4	NP_598004.1:p.(Arg27His)	NC_000009.11:g.2717819G>A	(Likely) benign	1 lab	b92578f780
16:56969366 MISSING Ref too long to show for this DEL>A	16	56969366	56992017	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.56969367_56992017del	VUS	1 lab	b747635000
15:73615401 HCN4 A>G	15	73615401	73615401	A	G	HCN4	c.3033T>C	NM_005477.3	NP_005468.1:p.(Ser1011=)	NC_000015.9:g.73615401A>G	(Likely) benign	1 lab	b74c2c4f2a
1:248059497 OR2W3 G>A	1	248059497	248059497	G	A	OR2W3	c.609G>A	NM_001001957.2	NP_001001957.2:p.(Ala203=)	NC_000001.10:g.248059497G>A	VUS	1 lab	b74c6f5168
11:95578227 MTMR2 G>A	11	95578227	95578227	G	A	MTMR2	c.1060C>T	NM_001243571.2	NP_001230500.1:p.(Gln354Ter)	NC_000011.9:g.95578227G>A	(Likely) pathogenic	1 lab	b74d83a565
12:125298732 SCARB1 A>G	12	125298732	125298732	A	G	SCARB1	c.630+16T>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125298732A>G	(Likely) benign	1 lab	b750a8a53e
15:58855864 LIPC C>T	15	58855864	58855864	C	T	LIPC	c.1330C>T	NM_000236.3	NP_000227.2:p.(Arg444Cys)	NC_000015.9:g.58855864C>T	VUS	1 lab	b755d7b4c4
2:189856457 COL3A1 A>G	2	189856457	189856457	A	G	COL3A1	c.951+9A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856457A>G	(Likely) benign	1 lab	b75f25e74b
12:117969507 KSR2 G>A	12	117969507	117969507	G	A	KSR2	c.1693C>T	NM_173598.6	NP_775869.4:p.(His565Tyr)	NC_000012.11:g.117969507G>A	(Likely) benign	1 lab	b762f30e8f
X:492347 MISSING C>Alt too long to show for this DUP	X	492347	781139	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.492348_781139dup	(Likely) pathogenic	1 lab	b768bced3a
17:7578116 TP53 G>A	17	7578116	7578116	G	A	TP53	c.672+61C>T	NM_000546.6	NP_000537.3:p.?	NC_000017.10:g.7578116G>A	(Likely) benign	1 lab	b76dfffcf6
14:23894144 MYH7 G>A	14	23894144	23894144	G	A	MYH7	c.2513C>T	NM_000257.4	NP_000248.2:p.(Pro838Leu)	NC_000014.8:g.23894144G>A	(Likely) pathogenic	1 lab	b76fd9ed33
5:37157532 CPLANE1 T>C	5	37157532	37157532	T	C	CPLANE1	c.8012-10A>G	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37157532T>C	(Likely) benign	1 lab	b772d66d16
22:38565453 PLA2G6 G>T	22	38565453	38565453	G	T	PLA2G6	c.-20C>A	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38565453G>T	(Likely) benign	1 lab	b7799f4bac
4:55598211 KIT A>AT	4	55598211	55598236	A	AT	KIT	c.2361+72dup	NM_000222.3	NP_000213.1:p.?	NC_000004.11:g.55598236dup	(Likely) benign	1 lab	b77ac60b63
18:28654861 DSC2 C>T	18	28654861	28654861	C	T	DSC2	c.1676G>A	NM_004949.5	NP_004940.1:p.(Cys559Tyr)	NC_000018.9:g.28654861C>T	VUS	1 lab	b77b7f81e6
13:60752826 MISSING Ref too long to show for this DEL>T	13	60752826	60793053	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.60752827_60793053del	VUS	1 lab	b77bb68e83
19:2251286 AMH G>T	19	2251286	2251286	G	T	AMH	c.1013G>T	NM_000479.5	NP_000470.3:p.(Arg338Leu)	NC_000019.9:g.2251286G>T	VUS	1 lab	c0d1b0ca56
9:123924386 CNTRL AT>A	9	123924386	123924387	AT	A	CNTRL	c.5261del	NM_007018.6	NP_008949.4:p.(Ile1754LysfsTer15)	NC_000009.11:g.123924387del	VUS	1 lab	b782327f6e
4:114208825 ANK2 C>T	4	114208825	114208825	C	T	ANK2	c.2144C>T	NM_001148.6	NP_001139.3:p.(Thr715Ile)	NC_000004.11:g.114208825C>T	VUS	1 lab	b783becb8a
4:57602906 MISSING C>Alt too long to show for this DUP	4	57602906	57926114	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.57602908_57926114dup	VUS	1 lab	b7889db6e6
2:1488479 TPO G>A	2	1488479	1488479	G	A	TPO	c.1450G>A	NM_000547.6	NP_000538.3:p.(Val484Met)	NC_000002.11:g.1488479G>A	VUS	1 lab	b789366f38
2:179424279 TTN CTCTT>C	2	179424279	179424284	CTCTT	C	TTN	c.78872_78875del	NM_133378.4	NP_596869.4:p.(Lys26291SerfsTer18)	NC_000002.11:g.179424281_179424284del	(Likely) pathogenic	1 lab	b789a0a06f
3:38595767 SCN5A C>T	3	38595767	38595767	C	T	SCN5A	c.4813+3G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38595767C>T	VUS	1 lab	b78e0cbabc
16:1020900 LMF1 A>G	16	1020900	1020900	A	G	LMF1	c.81T>C	NM_022773.4	NP_073610.2:p.(Pro27=)	NC_000016.9:g.1020900A>G	(Likely) benign	1 lab	b78ead33b9
2:21229558 APOB C>A	2	21229558	21229558	C	A	APOB	c.10182G>T	NM_000384.3	NP_000375.3:p.(Lys3394Asn)	NC_000002.11:g.21229558C>A	(Likely) pathogenic	1 lab	b78fdc9847
11:47373845 MYBPC3 C>T	11	47373845	47373845	C	T	MYBPC3	c.25+329G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373845C>T	(Likely) benign	1 lab	b792beb94d
16:67976734 LCAT G>A	16	67976734	67976734	G	A	LCAT	c.427+30C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976734G>A	(Likely) benign	1 lab	b79334824b
3:114070441 ZBTB20 C>T	3	114070441	114070441	C	T	ZBTB20	c.484G>A	NM_001348803.3	NP_001335732.1:p.(Val162Met)	NC_000003.11:g.114070441C>T	VUS	1 lab	b795af41f5
8:145619489 CPSF1 G>A	8	145619489	145619489	G	A	CPSF1	c.3771C>T	NM_013291.3	NP_037423.2:p.(Ser1257=)	NC_000008.10:g.145619489G>A	(Likely) benign	1 lab	b797ee2f17
7:138522819 KIAA1549 G>A	7	138522819	138522819	G	A	KIAA1549	c.5637C>T	NM_020910.3	NP_065961.2:p.(Ser1879=)	NC_000007.13:g.138522819G>A	(Likely) benign	1 lab	b79da872e4
1:6531966 PLEKHG5 C>T	1	6531966	6531966	C	T	PLEKHG5	c.1081-98G>A	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6531966C>T	(Likely) benign	1 lab	b79dfebcac
7:94038715 COL1A2 G>A	7	94038715	94038715	G	A	COL1A2	c.874G>A	NM_000089.4	NP_000080.2:p.(Gly292Ser)	NC_000007.13:g.94038715G>A	(Likely) pathogenic	1 lab	b79fd45ba9
12:21325699 SLCO1B1 G>C	12	21325699	21325699	G	C	SLCO1B1	c.200G>C	NM_006446.5	NP_006437.3:p.(Gly67Ala)	NC_000012.11:g.21325699G>C	(Likely) benign	1 lab	b7a04d4f9d
X:13767718 OFD1 A>G	X	13767718	13767718	A	G	OFD1	c.935+66A>G	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13767718A>G	(Likely) benign	1 lab	b7a0dab12c
1:21894692 ALPL C>T	1	21894692	21894692	C	T	ALPL	c.744C>T	NM_000478.6	NP_000469.3:p.(Asp248=)	NC_000001.10:g.21894692C>T	(Likely) benign	1 lab	b7a1f8c786
1:180780524 XPR1 A>G	1	180780524	180780524	A	G	XPR1	c.682-19A>G	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180780524A>G	(Likely) benign	1 lab	b7a21418e5
16:1004892 LMF1 T>C	16	1004892	1004892	T	C	LMF1	c.-361-226A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004892T>C	(Likely) benign	1 lab	b7a3638f32
1:156851314 NTRK1 C>G	1	156851314	156851314	C	G	NTRK1	c.2271C>G	NM_002529.4	NP_002520.2:p.(Tyr757Ter)	NC_000001.10:g.156851314C>G	(Likely) pathogenic	1 lab	b7a9bfa42b
17:44116531 KANSL1 C>CT	17	44116531	44116532	C	CT	KANSL1	c.2253dup	NM_001193466.2	NP_001180395.1:p.(Asp752ArgfsTer29)	NC_000017.10:g.44116532dup	(Likely) pathogenic	1 lab	b7a9de8924
2:21231703 APOB C>T	2	21231703	21231703	C	T	APOB	c.8037G>A	NM_000384.3	NP_000375.3:p.(Met2679Ile)	NC_000002.11:g.21231703C>T	VUS	1 lab	b7ac5a5608
18:6959382 LAMA1 C>T	18	6959382	6959382	C	T	LAMA1	c.7736G>A	NM_005559.4	NP_005550.2:p.(Ser2579Asn)	NC_000018.9:g.6959382C>T	(Likely) benign	1 lab	b7b08ee943
16:88601219 ZFPM1 C>T	16	88601219	88601219	C	T	ZFPM1	c.2853C>T	NM_153813.3	NP_722520.2:p.(Ser951=)	NC_000016.9:g.88601219C>T	(Likely) benign	1 lab	b7b1216748
1:156084751 LMNA G>A	1	156084751	156084751	G	A	LMNA	c.42G>A	NM_170707.4	NP_733821.1:p.(Ala14=)	NC_000001.10:g.156084751G>A	(Likely) benign	1 lab	b7b3b3d689
19:45451656 APOC2 T>G	19	45451656	45451656	T	G	APOC2	c.-13-67T>G	NM_000483.5	NP_000474.2:p.?	NC_000019.9:g.45451656T>G	(Likely) benign	1 lab	b7b3db9023
11:118015957 SCN4B C>T	11	118015957	118015957	C	T	SCN4B	c.62-13G>A	NM_174934.4	NP_777594.1:p.?	NC_000011.9:g.118015957C>T	(Likely) benign	1 lab	b7b438e6dd
2:233194507 DIS3L2 C>T	2	233194507	233194507	C	T	DIS3L2	c.1740-16C>T	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233194507C>T	(Likely) benign	1 lab	b7b7bfe761
1:227174318 COQ8A C>T	1	227174318	227174318	C	T	COQ8A	c.1824C>T	NM_020247.5	NP_064632.2:p.(Ser608=)	NC_000001.10:g.227174318C>T	(Likely) benign	1 lab	b7bc8c747b
4:141264827 MISSING Ref too long to show for this DEL>G	4	141264827	141580892	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.141264830_141580892del	VUS	1 lab	b7c63bf5d9
1:55512275 PCSK9 G>A	1	55512275	55512275	G	A	PCSK9	c.479G>A	NM_174936.4	NP_777596.2:p.(Arg160Gln)	NC_000001.10:g.55512275G>A	(Likely) benign	1 lab	b7c71e44c6
2:179432583 TTN T>C	2	179432583	179432583	T	C	TTN	c.78276A>G	NM_001267550.2	NP_001254479.2:p.(Pro26092=)	NC_000002.11:g.179432583T>C	(Likely) benign	1 lab	b7c8f13bba
9:113608818 MISSING Ref too long to show for this DEL>A	9	113608818	114091840	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.113608819_114091840del	VUS	1 lab	b7d11e1be8
2:211320041 LANCL1 G>GAA	2	211320041	211320053	G	GAA	LANCL1	c.200-5_200-4dup	NM_006055.3	NP_006046.1:p.?	NC_000002.11:g.211320052_211320053dup	(Likely) benign	1 lab	b7d20bf5e2
3:11885498 MISSING C>Alt too long to show for this DUP	3	11885498	11925828	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.11885500_11925828dup	VUS	1 lab	b97ede3da5
2:179401297 TTN-AS1 GCTTT>G	2	179401297	179401301	GCTTT	G	TTN-AS1	n.316+743_316+746del	NR_038272.1		NC_000002.11:g.179401298_179401301del	(Likely) benign	1 lab	b7d39ff2ed
9:135210039 SETX T>C	9	135210039	135210039	T	C	SETX	c.794A>G	NM_015046.7	NP_055861.3:p.(Asp265Gly)	NC_000009.11:g.135210039T>C	(Likely) benign	1 lab	b7d5e57975
2:179403855 TTN C>T	2	179403855	179403855	C	T	TTN	c.98807G>A	NM_001267550.2	NP_001254479.2:p.(Arg32936His)	NC_000002.11:g.179403855C>T	VUS	1 lab	b7dce3865e
5:148384323 SH3TC2 C>T	5	148384323	148384323	C	T	SH3TC2	c.3818G>A	NM_024577.4	NP_078853.2:p.(Cys1273Tyr)	NC_000005.9:g.148384323C>T	VUS	1 lab	b7e21ffbdd
6:149691028 TAB2 T>TTTTC	6	149691028	149691040	T	TTTTC	TAB2	c.-89-8_-89-5dup	NM_015093.6	NP_055908.1:p.?	NC_000006.11:g.149691037_149691040dup	(Likely) benign	1 lab	b7eb4b9d19
8:68658310 CPA6 AG>A	8	68658310	68658311	AG	A	CPA6	c.54del	NM_020361.5	NP_065094.3:p.(Trp19GlyfsTer4)	NC_000008.10:g.68658311del	VUS	1 lab	b7ee6b5dc2
16:929553 LMF1 G>A	16	929553	929553	G	A	LMF1	c.897+17C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.929553G>A	(Likely) benign	1 lab	b7ee812dd1
15:44951368 SPG11 TG>T	15	44951368	44951369	TG	T	SPG11	c.575del	NM_025137.4	NP_079413.3:p.(Thr192AsnfsTer11)	NC_000015.9:g.44951369del	(Likely) pathogenic	1 lab	b7f1624913
6:16131260 MYLIP GAAA>G	6	16131260	16131279	GAAA	G	MYLIP	c.278+299_278+301del	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16131277_16131279del	(Likely) benign	1 lab	b7f9c4b977
19:49488782 GYS1 G>A	19	49488782	49488782	G	A	GYS1	c.759C>T	NM_002103.5	NP_002094.2:p.(His253=)	NC_000019.9:g.49488782G>A	(Likely) benign	1 lab	b7faafb53b
11:66476434 SPTBN2 C>A	11	66476434	66476434	C	A	SPTBN2	c.1130G>T	NM_006946.4	NP_008877.2:p.(Arg377Leu)	NC_000011.9:g.66476434C>A	VUS	1 lab	b7fd240ff0
6:121412191 TBC1D32 T>TA	6	121412191	121412202	T	TA	TBC1D32	c.3466-5dup	NM_152730.6	NP_689943.4:p.?	NC_000006.11:g.121412202dup	(Likely) benign	1 lab	b800ae9918
8:19811636 LPL G>C	8	19811636	19811636	G	C	LPL	c.547G>C	NM_000237.3	NP_000228.1:p.(Asp183His)	NC_000008.10:g.19811636G>C	(Likely) pathogenic	1 lab	b80282ba1c
5:110074904 SLC25A46 C>T	5	110074904	110074904	C	T	SLC25A46	c.84C>T	NM_138773.4	NP_620128.1:p.(Phe28=)	NC_000005.9:g.110074904C>T	(Likely) benign	1 lab	b8028efe4f
22:20779744 SCARF2 G>A	22	20779744	20779744	G	A	SCARF2	c.2537C>T	NM_153334.7	NP_699165.3:p.(Thr846Ile)	NC_000022.10:g.20779744G>A	VUS	1 lab	b806b61396
15:58855731 LIPC G>A	15	58855731	58855731	G	A	LIPC	c.1197G>A	NM_000236.3	NP_000227.2:p.(Thr399=)	NC_000015.9:g.58855731G>A	(Likely) benign	1 lab	b80a530397
3:170184862 SLC7A14 A>G	3	170184862	170184862	A	G	SLC7A14	c.2297T>C	NM_020949.3	NP_066000.2:p.(Leu766Ser)	NC_000003.11:g.170184862A>G	VUS	1 lab	b80c80706a
15:34536292 SLC12A6 G>A	15	34536292	34536292	G	A	SLC12A6	c.1944-19C>T	NM_001365088.1	NP_001352017.1:p.?	NC_000015.9:g.34536292G>A	(Likely) benign	1 lab	b80d480b4e
6:117113765 GPRC6A T>TTCC	6	117113765	117113767	T	TTCC	GPRC6A	c.2320_2321insGGA	NM_148963.4	NP_683766.2:p.(Gly773_Lys774insArg)	NC_000006.11:g.117113766_117113767insCCT	(Likely) benign	1 lab	b80e62927e
X:118603756 SLC25A5 T>A	X	118603756	118603756	T	A	SLC25A5	c.244T>A	NM_001152.5	NP_001143.2:p.(Phe82Ile)	NC_000023.10:g.118603756T>A	(Likely) benign	1 lab	b8142da5e5
16:57007446 CETP T>G	16	57007446	57007446	T	G	CETP	c.930+24T>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007446T>G	(Likely) benign	1 lab	b817f6043a
17:1675377 SERPINF1 C>T	17	1675377	1675377	C	T	SERPINF1	c.643+8C>T	NM_002615.7	NP_002606.3:p.?	NC_000017.10:g.1675377C>T	(Likely) benign	1 lab	b81afd77e7
2:21252894 APOB A>T	2	21252894	21252894	A	T	APOB	c.1353-7T>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252894A>T	(Likely) benign	1 lab	b82da1e48c
2:179560687 TTN T>C	2	179560687	179560687	T	C	TTN	c.31112A>G	NM_001267550.2	NP_001254479.2:p.(Tyr10371Cys)	NC_000002.11:g.179560687T>C	VUS	1 lab	b83197e99c
2:179576787 TTN T>C	2	179576787	179576787	T	C	TTN	c.27770A>G	NM_001267550.2	NP_001254479.2:p.(Asn9257Ser)	NC_000002.11:g.179576787T>C	VUS	1 lab	b833279383
19:8669981 ADAMTS10 C>T	19	8669981	8669981	C	T	ADAMTS10	c.351G>A	NM_030957.4	NP_112219.3:p.(Ala117=)	NC_000019.9:g.8669981C>T	(Likely) benign	1 lab	b833f6779b
2:179593501 TTN T>C	2	179593501	179593501	T	C	TTN	c.19152A>G	NM_001267550.2	NP_001254479.2:p.(Pro6384=)	NC_000002.11:g.179593501T>C	(Likely) benign	1 lab	b835a54c28
1:241682871 FH G>A	1	241682871	241682871	G	A	FH	c.132+20C>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241682871G>A	(Likely) benign	1 lab	b842c86b20
X:70444261 GJB1 T>G	X	70444261	70444261	T	G	GJB1	c.704T>G	NM_000166.6	NP_000157.1:p.(Phe235Cys)	NC_000023.10:g.70444261T>G	(Likely) benign	1 lab	b84983a9d2
6:75861013 COL12A1 C>T	6	75861013	75861013	C	T	COL12A1	c.4001-10G>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75861013C>T	(Likely) benign	1 lab	b84df914f9
17:62029159 SCN4A G>A	17	62029159	62029159	G	A	SCN4A	c.2478C>T	NM_000334.4	NP_000325.4:p.(Ile826=)	NC_000017.10:g.62029159G>A	(Likely) benign	1 lab	b84f1be554
1:227073239 PSEN2 C>T	1	227073239	227073239	C	T	PSEN2	c.357C>T	NM_000447.3	NP_000438.2:p.(Leu119=)	NC_000001.10:g.227073239C>T	(Likely) benign	1 lab	b84fddd245
7:155870345 MISSING Ref too long to show for this DEL>G	7	155870345	159118566	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.155870347_159118566del	(Likely) pathogenic	1 lab	b853338110
11:76834859 CAPN5 C>T	11	76834859	76834859	C	T	CAPN5	c.1866C>T	NM_004055.5	NP_004046.2:p.(Asn622=)	NC_000011.9:g.76834859C>T	(Likely) benign	1 lab	b8542d7134
15:58724225 LIPC C>T	15	58724225	58724225	C	T	LIPC	c.-7C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724225C>T	(Likely) benign	1 lab	b85514cf30
2:21236138 APOB G>A	2	21236138	21236138	G	A	APOB	c.4110C>T	NM_000384.3	NP_000375.3:p.(Ser1370=)	NC_000002.11:g.21236138G>A	(Likely) benign	1 lab	b856a364ae
8:145626438 CPSF1 C>T	8	145626438	145626438	C	T	CPSF1	c.419G>A	NM_013291.3	NP_037423.2:p.(Arg140Gln)	NC_000008.10:g.145626438C>T	(Likely) benign	1 lab	b863e261b2
12:8814294 MFAP5 A>G	12	8814294	8814294	A	G	MFAP5	c.58+349T>C	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8814294A>G	(Likely) benign	1 lab	b866a7ae5f
19:11223929 LDLR C>T	19	11223929	11223929	C	T	LDLR	c.1187-25C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223929C>T	(Likely) benign	1 lab	b866b9a48c
16:929844 LMF1 AG>A	16	929844	929846	AG	A	LMF1	c.331-108del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929846del	(Likely) benign	1 lab	b868a4d02c
7:128490012 FLNC C>T	7	128490012	128490012	C	T	FLNC	c.5200-18C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490012C>T	(Likely) benign	1 lab	b8692e3a9c
5:121413003 LOX T>C	5	121413003	121413003	T	C	LOX	c.631+47A>G	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121413003T>C	(Likely) benign	1 lab	b869f5b3ff
3:195512260 MUC4 G>C	3	195512260	195512260	G	C	MUC4	c.6191C>G	NM_018406.7	NP_060876.5:p.(Pro2064Arg)	NC_000003.11:g.195512260G>C	(Likely) benign	1 lab	b86defe5e8
2:44051061 ABCG5 C>A	2	44051061	44051061	C	A	ABCG5	c.1315G>T	NM_022436.3	NP_071881.1:p.(Val439Leu)	NC_000002.11:g.44051061C>A	VUS	1 lab	b87412da1a
8:24813046 NEFL C>A	8	24813046	24813046	C	A	NEFL	c.984G>T	NM_006158.5	NP_006149.2:p.(Ala328=)	NC_000008.10:g.24813046C>A	(Likely) benign	1 lab	b87442e466
18:47093947 LIPG A>T	18	47093947	47093947	A	T	LIPG	c.415A>T	NM_006033.4	NP_006024.1:p.(Arg139Trp)	NC_000018.9:g.47093947A>T	VUS	1 lab	b874cd9188
8:134266813 NDRG1 G>A	8	134266813	134266813	G	A	NDRG1	c.563C>T	NM_001135242.2	NP_001128714.1:p.(Pro188Leu)	NC_000008.10:g.134266813G>A	VUS	1 lab	b876095c98
6:72975218 RIMS1 T>G	6	72975218	72975218	T	G	RIMS1	c.3308+12T>G	NM_014989.6	NP_055804.2:p.?	NC_000006.11:g.72975218T>G	(Likely) benign	1 lab	b877d40fcf
16:960792 LMF1 C>T	16	960792	960792	C	T	LMF1	c.264+139G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960792C>T	(Likely) benign	1 lab	b87bea51c1
19:11230770 LDLR CA>C	19	11230770	11230773	CA	C	LDLR	c.1851del	NM_000527.5	NP_000518.1:p.(Val618TyrfsTer47)	NC_000019.9:g.11230773del	(Likely) pathogenic	1 lab	b87c7092db
X:71998526 MISSING G>Alt too long to show for this DUP	X	71998526	72297325	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.71998529_72297325dup	VUS	1 lab	b87cb4658f
16:76447192 CNTNAP4 Ref too long to show for this DEL>C	16	76447192	76579118	Ref too long to show for this DEL	C	CNTNAP4	c.391-14156_3442+4431del	NM_033401.5	NP_207837.2:p.?	NC_000016.9:g.76447193_76579118del	VUS	1 lab	b87d17de9c
3:38596017 SCN5A G>A	3	38596017	38596017	G	A	SCN5A	c.4566C>T	NM_198056.3	NP_932173.1:p.(Phe1522=)	NC_000003.11:g.38596017G>A	(Likely) benign	1 lab	b87dd531db
1:55524501 PCSK9 A>G	1	55524501	55524501	A	G	PCSK9	c.1503+181A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524501A>G	(Likely) benign	1 lab	b8861b9d08
11:68205997 LRP5 G>T	11	68205997	68205997	G	T	LRP5	c.2452G>T	NM_001291902.2	NP_001278831.1:p.(Val818Phe)	NC_000011.9:g.68205997G>T	VUS	1 lab	b88b871b0c
15:48738898 FBN1 C>A	15	48738898	48738898	C	A	FBN1	c.5788+5G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48738898C>A	(Likely) pathogenic	1 lab	b89331b357
19:10251488 DNMT1 G>A	19	10251488	10251488	G	A	DNMT1	c.3492C>T	NM_001130823.3	NP_001124295.1:p.(Cys1164=)	NC_000019.9:g.10251488G>A	(Likely) benign	1 lab	b894ff49cd
15:48737714 FBN1 C>T	15	48737714	48737714	C	T	FBN1	c.5789-13G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48737714C>T	(Likely) benign	1 lab	b8996357ae
13:32910894 BRCA2 A>T	13	32910894	32910894	A	T	BRCA2	c.2402A>T	NM_000059.4	NP_000050.3:p.(Asn801Ile)	NC_000013.10:g.32910894A>T	(Likely) benign	1 lab	b8a1dde171
18:28651665 DSC2 G>A	18	28651665	28651665	G	A	DSC2	c.2031C>T	NM_004949.5	NP_004940.1:p.(Cys677=)	NC_000018.9:g.28651665G>A	(Likely) benign	1 lab	b8a289e539
2:1687881 PXDN C>T	2	1687881	1687881	C	T	PXDN	c.459G>A	NM_012293.3	NP_036425.1:p.(Ser153=)	NC_000002.11:g.1687881C>T	(Likely) benign	1 lab	b8a544a91d
5:75008667 POC5 AT>A	5	75008667	75008673	AT	A	POC5	c.84+11del	NM_001099271.2	NP_001092741.1:p.?	NC_000005.9:g.75008673del	(Likely) benign	1 lab	b8be3c4eab
19:11233653 LDLR A>AT	19	11233653	11233670	A	AT	LDLR	c.2141-180dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11233670dup	(Likely) benign	1 lab	b8c73eaff4
5:92929416 NR2F1 GTCC>G	5	92929416	92929425	GTCC	G	NR2F1	c.1147_1149del	NM_005654.6	NP_005645.1:p.(Ser383del)	NC_000005.9:g.92929423_92929425del	VUS	1 lab	b8ca23680e
6:169648858 THBS2 G>A	6	169648858	169648858	G	A	THBS2	c.263C>T	NM_003247.5	NP_003238.2:p.(Ala88Val)	NC_000006.11:g.169648858G>A	VUS	1 lab	b8ca9f4ebc
2:73718317 ALMS1 G>A	2	73718317	73718317	G	A	ALMS1	c.9234G>A	NM_015120.4	NP_055935.4:p.(Ala3078=)	NC_000002.11:g.73718317G>A	(Likely) benign	1 lab	b8cca1b005
2:179614646 TTN A>T	2	179614646	179614646	A	T	TTN	c.12481T>A	NM_133379.5	NP_596870.2:p.(Leu4161Ile)	NC_000002.11:g.179614646A>T	VUS	1 lab	b8d1fbb5a6
22:29083880 CHEK2 G>A	22	29083880	29083880	G	A	CHEK2	c.*5C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29083880G>A	VUS	1 lab	b8d6478080
9:139409983 NOTCH1 G>A	9	139409983	139409983	G	A	NOTCH1	c.1855C>T	NM_017617.5	NP_060087.3:p.(Gln619Ter)	NC_000009.11:g.139409983G>A	(Likely) pathogenic	1 lab	b8d691d6cc
1:43424309 SLC2A1 C>T	1	43424309	43424309	C	T	SLC2A1	c.14G>A	NM_006516.4	NP_006507.2:p.(Ser5Asn)	NC_000001.10:g.43424309C>T	VUS	1 lab	b8d787ddbb
20:60910274 LAMA5 G>A	20	60910274	60910274	G	A	LAMA5	c.2375C>T	NM_005560.6	NP_005551.3:p.(Pro792Leu)	NC_000020.10:g.60910274G>A	VUS	1 lab	b8de1396bb
10:90981876 LIPA C>T	10	90981876	90981876	C	T	LIPA	c.894+392G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90981876C>T	(Likely) benign	1 lab	b8e3cfd712
10:90984909 LIPA G>A	10	90984909	90984909	G	A	LIPA	c.615C>T	NM_000235.4	NP_000226.2:p.(Ser205=)	NC_000010.10:g.90984909G>A	(Likely) benign	1 lab	b8e4bb0ba9
1:172411206 PIGC G>C	1	172411206	172411206	G	C	PIGC	c.557C>G	NM_002642.4	NP_002633.1:p.(Ser186Cys)	NC_000001.10:g.172411206G>C	VUS	1 lab	b8e90920e6
7:44151666 AEBP1 G>A	7	44151666	44151666	G	A	AEBP1	c.2037+17G>A	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44151666G>A	(Likely) benign	1 lab	b8ed4d2fe4
15:48789696 FBN1 A>C	15	48789696	48789696	A	C	FBN1	c.2168-108T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48789696A>C	(Likely) benign	1 lab	b8ee8a3299
3:8787267 CAV3 T>G	3	8787267	8787267	T	G	CAV3	c.170T>G	NM_033337.3	NP_203123.1:p.(Val57Gly)	NC_000003.11:g.8787267T>G	VUS	1 lab	b8f69a8a01
19:11231557 LDLR C>T	19	11231557	11231557	C	T	LDLR	c.2140+359C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11231557C>T	(Likely) benign	1 lab	c1276b2d8e
2:26950674 KCNK3 C>A	2	26950674	26950674	C	A	KCNK3	c.423C>A	NM_002246.3	NP_002237.1:p.(His141Gln)	NC_000002.11:g.26950674C>A	(Likely) benign	1 lab	b8f948209a
22:40662557 TNRC6B G>T	22	40662557	40662557	G	T	TNRC6B	c.2323G>T	NM_001162501.2	NP_001155973.1:p.(Gly775Ter)	NC_000022.10:g.40662557G>T	VUS	1 lab	b8fe243a4b
5:127873200 FBN2 G>T	5	127873200	127873200	G	T	FBN2	c.97C>A	NM_001999.4	NP_001990.2:p.(Pro33Thr)	NC_000005.9:g.127873200G>T	VUS	1 lab	b8ff27020c
10:53921738 PRKG1 T>TCCTTTGG	10	53921738	53921743	T	TCCTTTGG	PRKG1	c.1031+19_1031+20insTGGCCTT	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53921742_53921743insTGGCCTT	(Likely) benign	1 lab	b902d8728c
10:112580268 RBM20 C>T	10	112580268	112580268	C	T	RBM20	c.2655+334C>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112580268C>T	(Likely) benign	1 lab	b90d17de5d
17:1419308 PITPNA A>Alt too long to show for this DUP	17	1419308	1450230	A	Alt too long to show for this DUP	PITPNA				NC_000017.10:g.1419309_1450230dup	VUS	1 lab	b910a07362
2:179474472 TTN G>A	2	179474472	179474472	G	A	TTN	c.51678C>T	NM_001267550.2	NP_001254479.2:p.(Asn17226=)	NC_000002.11:g.179474472G>A	(Likely) benign	1 lab	b91709ef70
1:236898908 ACTN2 G>A	1	236898908	236898908	G	A	ACTN2	c.698-27G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236898908G>A	(Likely) benign	1 lab	b91841767b
12:30818032 IPO8 C>T	12	30818032	30818032	C	T	IPO8	c.1428+122G>A	NM_006390.4	NP_006381.2:p.?	NC_000012.11:g.30818032C>T	(Likely) benign	1 lab	b91bde729a
16:28884874 SH2B1 A>G	16	28884874	28884874	A	G	SH2B1	c.2004A>G	NM_001308293.2	NP_001295222.1:p.(Ala668=)	NC_000016.9:g.28884874A>G	(Likely) benign	1 lab	b91dbb2f2f
2:179428120 TTN G>A	2	179428120	179428120	G	A	TTN	c.82739C>T	NM_001267550.2	NP_001254479.2:p.(Thr27580Met)	NC_000002.11:g.179428120G>A	VUS	1 lab	b920ff03de
12:49691236 PRPH C>G	12	49691236	49691236	C	G	PRPH	c.1093C>G	NM_006262.4	NP_006253.2:p.(Leu365Val)	NC_000012.11:g.49691236C>G	VUS	1 lab	b9212c25fa
2:97911777 ANKRD36 G>C	2	97911777	97911777	G	C	ANKRD36	c.5375G>C	NM_001354587.1	NP_001341516.1:p.(Cys1792Ser)	NC_000002.11:g.97911777G>C	(Likely) benign	1 lab	b92b959b26
1:55528629 PCSK9 G>A	1	55528629	55528629	G	A	PCSK9	c.1864-413G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55528629G>A	(Likely) benign	1 lab	b92c02a80e
15:22833521 MISSING Ref too long to show for this DEL>G	15	22833521	23062326	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.22833524_23062326del	(Likely) pathogenic	1 lab	b92d17d4c5
22:51158610 SHANK3 A>AG	22	51158610	51158614	A	AG	SHANK3	c.2578dup	NM_001372044.2	NP_001358973.1:p.(Glu860GlyfsTer511)	NC_000022.10:g.51158614dup	(Likely) pathogenic	1 lab	b9311ac0de
13:79826260 MISSING Ref too long to show for this DEL>T	13	79826260	80639691	Ref too long to show for this DEL	T	MISSING				NC_000013.10:g.79826262_80639691del	VUS	1 lab	b9350dd81e
7:100637905 MUC12 C>A	7	100637905	100637905	C	A	MUC12	c.4061C>A	NM_001164462.1	NP_001157934.1:p.(Thr1354Lys)	NC_000007.13:g.100637905C>A	(Likely) benign	1 lab	b937beb4d4
X:79913860 MISSING C>Alt too long to show for this DUP	X	79913860	80005785	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.79913861_80005785dup	VUS	1 lab	b93e10d6b9
12:2595358 CACNA1C C>T	12	2595358	2595358	C	T	CACNA1C	c.846C>T	NM_001167623.2	NP_001161095.1:p.(Tyr282=)	NC_000012.11:g.2595358C>T	(Likely) benign	1 lab	b93e852e20
11:47357813 MYBPC3 A>C	11	47357813	47357813	A	C	MYBPC3	c.2603-251T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357813A>C	(Likely) benign	1 lab	b946b71e59
20:1961124 PDYN A>G	20	1961124	1961124	A	G	PDYN	c.610T>C	NM_024411.5	NP_077722.1:p.(Tyr204His)	NC_000020.10:g.1961124A>G	VUS	1 lab	b9472e2364
1:54360178 DIO1 C>T	1	54360178	54360178	C	T	DIO1	c.295C>T	NM_000792.7	NP_000783.2:p.(Arg99Cys)	NC_000001.10:g.54360178C>T	VUS	1 lab	b94d2a41bd
3:195507614 MUC4 C>G	3	195507614	195507614	C	G	MUC4	c.10837G>C	NM_018406.7	NP_060876.5:p.(Asp3613His)	NC_000003.11:g.195507614C>G	(Likely) benign	1 lab	b94ef47f5a
18:29172852 TTR C>T	18	29172852	29172852	C	T	TTR	c.70-7C>T	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29172852C>T	(Likely) benign	1 lab	b9510c0388
2:21242745 APOB G>A	2	21242745	21242745	G	A	APOB	c.2849C>T	NM_000384.3	NP_000375.3:p.(Thr950Met)	NC_000002.11:g.21242745G>A	VUS	1 lab	b955e2b9a2
11:108115594 ATM C>T	11	108115594	108115594	C	T	ATM	c.742C>T	NM_000051.4	NP_000042.3:p.(Arg248Ter)	NC_000011.9:g.108115594C>T	(Likely) pathogenic	1 lab	b9581ac79b
15:58833975 LIPC C>T	15	58833975	58833975	C	T	LIPC	c.274-9C>T	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58833975C>T	(Likely) benign	1 lab	b9a0093039
18:21124904 NPC1 A>ACCCCC	18	21124904	21124907	A	ACCCCC	NPC1	c.1947+19_1947+20insGGGGG	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21124906_21124907insCCCCC	(Likely) benign	1 lab	b95a723835
3:58090932 FLNB T>TG	3	58090932	58090936	T	TG	FLNB	c.1740dup	NM_001164317.2	NP_001157789.1:p.(Ser581ValfsTer7)	NC_000003.11:g.58090936dup	(Likely) pathogenic	1 lab	b964bb3baa
1:6142308 KCNAB2 T>C	1	6142308	6142308	T	C	KCNAB2	c.354T>C	NM_001199862.2	NP_001186791.1:p.(Asp118=)	NC_000001.10:g.6142308T>C	(Likely) benign	1 lab	b9672ce205
1:236900597 ACTN2 G>GTATATATATA	1	236900597	236900598	G	GTATATATATA	ACTN2	c.876+83_876+84insTATATATATA	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236900597_236900598insTATATATATA	(Likely) benign	1 lab	b96a54f66c
20:14648245 MACROD2 Ref too long to show for this DEL>A	20	14648245	15150786	Ref too long to show for this DEL	A	MACROD2	c.302-17242_419-59800del	NM_001351661.2	NP_001338590.1:p.?	NC_000020.10:g.14648247_15150786del	VUS	1 lab	b96ac609c2
2:21227122 APOB C>T	2	21227122	21227122	C	T	APOB	c.12087+19G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21227122C>T	(Likely) benign	1 lab	b9702677f2
12:132426414 PUS1 C>G	12	132426414	132426414	C	G	PUS1	c.1122C>G	NM_025215.6	NP_079491.2:p.(Tyr374Ter)	NC_000012.11:g.132426414C>G	(Likely) pathogenic	1 lab	b970d44082
19:11221355 LDLR G>T	19	11221355	11221355	G	T	LDLR	c.968G>T	NM_000527.5	NP_000518.1:p.(Gly323Val)	NC_000019.9:g.11221355G>T	VUS	1 lab	b972fcee56
9:100859698 MISSING Ref too long to show for this DEL>T	9	100859698	100884565	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.100859700_100884565del	VUS	1 lab	b9755f8cda
19:50335567 MED25 C>T	19	50335567	50335567	C	T	MED25	c.1377C>T	NM_030973.4	NP_112235.2:p.(Thr459=)	NC_000019.9:g.50335567C>T	(Likely) benign	1 lab	b97841a457
8:134261030 NDRG1 G>C	8	134261030	134261030	G	C	NDRG1	c.699-16C>G	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134261030G>C	(Likely) benign	1 lab	b978b86295
8:38880800 ADAM9 G>A	8	38880800	38880800	G	A	ADAM9	c.870G>A	NM_003816.3	NP_003807.1:p.(Lys290=)	NC_000008.10:g.38880800G>A	(Likely) benign	1 lab	b979e3b597
16:1004889 LMF1 G>A	16	1004889	1004889	G	A	LMF1	c.-361-223C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004889G>A	(Likely) benign	1 lab	b97ae07b01
X:70444171 GJB1 A>G	X	70444171	70444171	A	G	GJB1	c.614A>G	NM_000166.6	NP_000157.1:p.(Asn205Ser)	NC_000023.10:g.70444171A>G	(Likely) pathogenic	1 lab	b97e71019a
16:2115651 TSC2 C>T	16	2115651	2115651	C	T	TSC2	c.1716+15C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2115651C>T	(Likely) benign	1 lab	b9a0919f92
2:179427284 TTN T>C	2	179427284	179427284	T	C	TTN	c.83575A>G	NM_001267550.2	NP_001254479.2:p.(Lys27859Glu)	NC_000002.11:g.179427284T>C	VUS	1 lab	b980a438ac
16:57493973 COQ9 C>T	16	57493973	57493973	C	T	COQ9	c.878C>T	NM_020312.4	NP_064708.1:p.(Thr293Ile)	NC_000016.9:g.57493973C>T	VUS	1 lab	b980ab930a
6:150710632 IYD A>G	6	150710632	150710632	A	G	IYD	c.323A>G	NM_001164694.2	NP_001158166.1:p.(Asn108Ser)	NC_000006.11:g.150710632A>G	(Likely) benign	1 lab	b98180ec8c
2:48027209 MSH6 T>C	2	48027209	48027209	T	C	MSH6	c.2087T>C	NM_000179.3	NP_000170.1:p.(Ile696Thr)	NC_000002.11:g.48027209T>C	VUS	1 lab	b982a8a7da
1:3329287 PRDM16 G>A	1	3329287	3329287	G	A	PRDM16	c.2526G>A	NM_022114.4	NP_071397.3:p.(Val842=)	NC_000001.10:g.3329287G>A	(Likely) benign	1 lab	b984804ec7
7:157979667 MISSING Ref too long to show for this DEL>A	7	157979667	158394836	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.157979668_158394836del	VUS	1 lab	b986ef4e02
12:57961016 KIF5A G>A	12	57961016	57961016	G	A	KIF5A	c.589+20G>A	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57961016G>A	(Likely) benign	1 lab	b98927b36c
8:59409177 CYP7A1 T>A	8	59409177	59409177	T	A	CYP7A1	c.894A>T	NM_000780.4	NP_000771.2:p.(Leu298Phe)	NC_000008.10:g.59409177T>A	VUS	1 lab	b98cc4d9cf
17:15163998 PMP22 A>G	17	15163998	15163998	A	G	PMP22	c.47T>C	NM_000304.4	NP_000295.1:p.(Leu16Pro)	NC_000017.10:g.15163998A>G	(Likely) pathogenic	1 lab	b991c8e61c
10:92678744 ANKRD1 A>ATATATATATATATATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATATATATATATATATAT	(Likely) benign	1 lab	b99244baf9
2:47602468 EPCAM G>T	2	47602468	47602468	G	T	EPCAM	c.491+30G>T	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47602468G>T	(Likely) benign	1 lab	b993f2937c
13:50115849 RCBTB1 G>A	13	50115849	50115849	G	A	RCBTB1	c.1287C>T	NM_018191.4	NP_060661.3:p.(Tyr429=)	NC_000013.10:g.50115849G>A	(Likely) benign	1 lab	b9a0937b20
6:16140568 MYLIP G>C	6	16140568	16140568	G	C	MYLIP	c.279-1288G>C	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16140568G>C	(Likely) benign	1 lab	b9a3a4f9f6
1:43393287 SLC2A1 G>A	1	43393287	43393287	G	A	SLC2A1	c.1267C>T	NM_006516.4	NP_006507.2:p.(Gln423Ter)	NC_000001.10:g.43393287G>A	(Likely) pathogenic	1 lab	b9a862923b
1:43779564 TIE1 T>C	1	43779564	43779564	T	C	TIE1	c.2334T>C	NM_005424.5	NP_005415.1:p.(Ala778=)	NC_000001.10:g.43779564T>C	(Likely) benign	1 lab	b9aac27c39
10:121436497 BAG3 TCAGG>T	10	121436497	121436502	TCAGG	T	BAG3	c.1433_1436del	NM_004281.4	NP_004272.2:p.(Gln478ProfsTer87)	NC_000010.10:g.121436499_121436502del	VUS	1 lab	b9b569122f
7:150648108 KCNH2 C>G	7	150648108	150648108	C	G	KCNH2	c.2046G>C	NM_000238.4	NP_000229.1:p.(Glu682Asp)	NC_000007.13:g.150648108C>G	VUS	1 lab	b9bbf1f2bc
17:39919294 JUP A>G	17	39919294	39919294	A	G	JUP	c.1438T>C	NM_001352773.2	NP_001339702.1:p.(Tyr480His)	NC_000017.10:g.39919294A>G	VUS	1 lab	b9bc3406ae
10:88459049 LDB3 C>T	10	88459049	88459049	C	T	LDB3	c.1115C>T	NM_001171611.2	NP_001165082.1:p.(Thr372Met)	NC_000010.10:g.88459049C>T	VUS	1 lab	b9bdc694db
19:49674673 TRPM4 A>G	19	49674673	49674673	A	G	TRPM4	c.856A>G	NM_017636.4	NP_060106.2:p.(Thr286Ala)	NC_000019.9:g.49674673A>G	(Likely) benign	1 lab	b9bfb2cca9
15:58855765 LIPC G>C	15	58855765	58855765	G	C	LIPC	c.1231G>C	NM_000236.3	NP_000227.2:p.(Gly411Arg)	NC_000015.9:g.58855765G>C	(Likely) benign	1 lab	b9bfca75e4
20:741706 SLC52A3 C>A	20	741706	741706	C	A	SLC52A3	c.1374G>T	NM_001370086.1	NP_001357015.1:p.(Ser458=)	NC_000020.10:g.741706C>A	(Likely) benign	1 lab	b9c10fd3ab
X:82763834 POU3F4 G>T	X	82763834	82763834	G	T	POU3F4	c.502G>T	NM_000307.5	NP_000298.3:p.(Glu168Ter)	NC_000023.10:g.82763834G>T	(Likely) pathogenic	1 lab	b9c7fa5bbf
1:10384882 KIF1B C>T	1	10384882	10384882	C	T	KIF1B	c.2604C>T	NM_001365951.3	NP_001352880.1:p.(Asp868=)	NC_000001.10:g.10384882C>T	(Likely) benign	1 lab	b9c9400f39
12:12356290 LRP6 C>A	12	12356290	12356290	C	A	LRP6	c.494G>T	NM_002336.3	NP_002327.2:p.(Arg165Leu)	NC_000012.11:g.12356290C>A	(Likely) pathogenic	1 lab	b9d09275a7
1:161771914 ATF6 C>T	1	161771914	161771914	C	T	ATF6	c.761C>T	NM_007348.4	NP_031374.2:p.(Pro254Leu)	NC_000001.10:g.161771914C>T	VUS	1 lab	b9d750659d
2:179616780 TTN A>AC	2	179616780	179616781	A	AC	TTN	c.11311+1070_11311+1071insG	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616780_179616781insC	(Likely) benign	1 lab	b9d8bccec3
2:179460495 TTN G>T	2	179460495	179460495	G	T	TTN	c.57586C>A	NM_001267550.2	NP_001254479.2:p.(Leu19196Ile)	NC_000002.11:g.179460495G>T	VUS	1 lab	b9ddbca7e9
4:120085419 MYOZ2 G>C	4	120085419	120085419	G	C	MYOZ2	c.430G>C	NM_016599.5	NP_057683.1:p.(Val144Leu)	NC_000004.11:g.120085419G>C	VUS	1 lab	b9ded8ac7c
1:3342661 PRDM16 G>A	1	3342661	3342661	G	A	PRDM16	c.3156G>A	NM_022114.4	NP_071397.3:p.(Ala1052=)	NC_000001.10:g.3342661G>A	(Likely) benign	1 lab	b9e1eb3b8b
2:29451802 ALK G>C	2	29451802	29451802	G	C	ALK	c.2763C>G	NM_004304.5	NP_004295.2:p.(Phe921Leu)	NC_000002.11:g.29451802G>C	(Likely) benign	1 lab	b9e44f0b63
11:125875640 CDON C>T	11	125875640	125875640	C	T	CDON	c.1851+14G>A	NM_001243597.2	NP_001230526.1:p.?	NC_000011.9:g.125875640C>T	(Likely) benign	1 lab	b9edd10a4a
2:21228006 APOB C>T	2	21228006	21228006	C	T	APOB	c.11734G>A	NM_000384.3	NP_000375.3:p.(Val3912Ile)	NC_000002.11:g.21228006C>T	VUS	1 lab	b9f2369855
5:138117607 CTNNA1 T>C	5	138117607	138117607	T	C	CTNNA1	c.-2-5T>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138117607T>C	(Likely) benign	1 lab	b9f553c902
4:114275489 ANK2 G>A	4	114275489	114275489	G	A	ANK2	c.5715G>A	NM_001148.6	NP_001139.3:p.(Ser1905=)	NC_000004.11:g.114275489G>A	(Likely) benign	1 lab	b9fbf925b6
17:29528406 NF1 C>CT	17	29528406	29528416	C	CT	NF1	c.1186-13dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29528416dup	(Likely) benign	1 lab	ba00eb2e47
1:103483381 COL11A1 C>G	1	103483381	103483381	C	G	COL11A1	c.1444G>C	NM_080629.3	NP_542196.2:p.(Asp482His)	NC_000001.10:g.103483381C>G	(Likely) benign	1 lab	ba02323a1f
9:107578059 ABCA1 A>T	9	107578059	107578059	A	T	ABCA1	c.3738+365T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107578059A>T	(Likely) benign	1 lab	ba0403b0b5
2:179604366 TTN T>C	2	179604366	179604366	T	C	TTN	c.12505A>G	NM_003319.4	NP_003310.4:p.(Thr4169Ala)	NC_000002.11:g.179604366T>C	VUS	1 lab	ba0746f7f9
16:16315601 ABCC6 T>TG	16	16315601	16315607	T	TG	ABCC6	c.123dup	NM_001171.6	NP_001162.5:p.(Met42HisfsTer59)	NC_000016.9:g.16315607dup	(Likely) pathogenic	1 lab	ba102ab70c
15:58834391 LIPC A>G	15	58834391	58834391	A	G	LIPC	c.456+225A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834391A>G	(Likely) benign	1 lab	ba1080881e
22:50904173 SBF1 G>A	22	50904173	50904173	G	A	SBF1	c.1089+19C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50904173G>A	(Likely) benign	1 lab	ba1a2cc9b4
17:48268238 COL1A1 G>A	17	48268238	48268238	G	A	COL1A1	c.2283C>T	NM_000088.4	NP_000079.2:p.(Gly761=)	NC_000017.10:g.48268238G>A	(Likely) benign	1 lab	ba1b2d763a
6:56438615 DST G>A	6	56438615	56438615	G	A	DST	c.6741C>T	NM_001144769.5	NP_001138241.1:p.(Thr2247=)	NC_000006.11:g.56438615G>A	(Likely) benign	1 lab	ba1c0e17c2
6:169639700 THBS2 G>A	6	169639700	169639700	G	A	THBS2	c.1123C>T	NM_003247.5	NP_003238.2:p.(Leu375Phe)	NC_000006.11:g.169639700G>A	(Likely) benign	1 lab	ba1c826197
22:51063994 ARSA G>T	22	51063994	51063994	G	T	ARSA	c.1210+13C>A	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51063994G>T	(Likely) benign	1 lab	ba1d8f5eae
2:179596506 TTN A>G	2	179596506	179596506	A	G	TTN	c.17096T>C	NM_001267550.2	NP_001254479.2:p.(Phe5699Ser)	NC_000002.11:g.179596506A>G	VUS	1 lab	ba21625d77
12:122257416 SETD1B G>A	12	122257416	122257416	G	A	SETD1B	c.3525G>A	NM_001353345.2	NP_001340274.1:p.(Ser1175=)	NC_000012.11:g.122257416G>A	(Likely) benign	1 lab	ba21bd51e8
17:15142809 PMP22 C>T	17	15142809	15142809	C	T	PMP22	c.298G>A	NM_000304.4	NP_000295.1:p.(Gly100Arg)	NC_000017.10:g.15142809C>T	(Likely) pathogenic	1 lab	ba22f72aae
3:69053447 EOGT A>T	3	69053447	69053447	A	T	EOGT	c.620+82T>A	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69053447A>T	(Likely) benign	1 lab	ba25ec1ab3
1:216040478 USH2A T>A	1	216040478	216040478	T	A	USH2A	c.8716A>T	NM_206933.4	NP_996816.3:p.(Asn2906Tyr)	NC_000001.10:g.216040478T>A	VUS	1 lab	ba28bf5647
15:84904640 GOLGA6L4 A>G	15	84904640	84904640	A	G	GOLGA6L4	c.54A>G	NM_001267536.3	NP_001254465.2:p.(Gln18=)	NC_000015.9:g.84904640A>G	(Likely) benign	1 lab	ba29732e1f
15:73616026 HCN4 G>A	15	73616026	73616026	G	A	HCN4	c.2408C>T	NM_005477.3	NP_005468.1:p.(Ala803Val)	NC_000015.9:g.73616026G>A	VUS	1 lab	ba2cff20c6
12:48370882 COL2A1 C>T	12	48370882	48370882	C	T	COL2A1	c.3327+3G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48370882C>T	(Likely) benign	1 lab	ba2f861600
21:33391545 MISSING Ref too long to show for this DEL>T	21	33391545	33535578	Ref too long to show for this DEL	T	MISSING				NC_000021.8:g.33391546_33535578del	VUS	1 lab	ba301159b9
17:48433958 XYLT2 T>C	17	48433958	48433958	T	C	XYLT2	c.1569T>C	NM_022167.4	NP_071450.2:p.(Tyr523=)	NC_000017.10:g.48433958T>C	(Likely) benign	1 lab	ba30379156
9:26906079 PLAA T>TA	9	26906079	26906090	T	TA	PLAA	c.1823-6dup	NM_001031689.3	NP_001026859.1:p.?	NC_000009.11:g.26906090dup	(Likely) benign	1 lab	ba3616ecd3
1:147478431 MISSING C>Alt too long to show for this DUP	1	147478431	147819296	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.147478434_147819296dup	(Likely) pathogenic	1 lab	ba405b6017
6:116758247 DSE TGGG>T	6	116758247	116758252	TGGG	T	DSE	c.2619_2621del	NM_013352.4	NP_037484.1:p.(Gly874del)	NC_000006.11:g.116758250_116758252del	(Likely) benign	1 lab	ba627afbcc
2:230647092 TRIP12 Ref too long to show for this DEL>C	2	230647092	230766786	Ref too long to show for this DEL	C	TRIP12	c.-50+19810_5094+3380del	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230647093_230766786del	(Likely) pathogenic	1 lab	ba4190913a
4:110791018 LRIT3 G>A	4	110791018	110791018	G	A	LRIT3	c.1113G>A	NM_198506.5	NP_940908.3:p.(Pro371=)	NC_000004.11:g.110791018G>A	(Likely) benign	1 lab	ba4527a265
2:219678421 CYP27A1 C>T	2	219678421	219678421	C	T	CYP27A1	c.1018-323C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219678421C>T	(Likely) benign	1 lab	ba49117aa1
16:11647432 LITAF C>T	16	11647432	11647432	C	T	LITAF	c.334G>A	NM_004862.4	NP_004853.2:p.(Gly112Ser)	NC_000016.9:g.11647432C>T	(Likely) pathogenic	1 lab	ba4aacc422
14:23858050 MYH6 G>T	14	23858050	23858050	G	T	MYH6	c.4175+18C>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858050G>T	(Likely) benign	1 lab	bb75b19fa5
2:137479641 MISSING Ref too long to show for this DEL>T	2	137479641	137530637	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.137479643_137530637del	VUS	1 lab	ba4cf5013c
7:101614467 CUX1 Ref too long to show for this DEL>G	7	101614467	101729795	Ref too long to show for this DEL	G	CUX1	c.141+54963_269-10849del	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101614468_101729795del	(Likely) pathogenic	1 lab	ba51547b93
14:20019785 POTEM C>T	14	20019785	20019785	C	T	POTEM	c.436G>A	NM_001145442.1	NP_001138914.1:p.(Ala146Thr)	NC_000014.8:g.20019785C>T	(Likely) benign	1 lab	ba51684c68
2:179454809 TTN ATATACT>A	2	179454809	179454816	ATATACT	A	TTN	c.61637_61642del	NM_001267550.2	NP_001254479.2:p.(Lys20546_Tyr20547del)	NC_000002.11:g.179454811_179454816del	VUS	1 lab	ba551610e3
2:44099223 ABCG8 A>T	2	44099223	44099223	A	T	ABCG8	c.1073A>T	NM_022437.3	NP_071882.1:p.(Asp358Val)	NC_000002.11:g.44099223A>T	VUS	1 lab	ba569e313c
1:237755118 RYR2 C>T	1	237755118	237755118	C	T	RYR2	c.4240C>T	NM_001035.3	NP_001026.2:p.(Arg1414Trp)	NC_000001.10:g.237755118C>T	VUS	1 lab	ba61b0f864
10:13158311 OPTN T>C	10	13158311	13158311	T	C	OPTN	c.597T>C	NM_001008211.1	NP_001008212.1:p.(Pro199=)	NC_000010.10:g.13158311T>C	(Likely) benign	1 lab	ba630f001f
2:179640596 TTN T>C	2	179640596	179640596	T	C	TTN	c.5995A>G	NM_133378.4	NP_596869.4:p.(Ser1999Gly)	NC_000002.11:g.179640596T>C	VUS	1 lab	ba63b19735
9:107578579 ABCA1 G>A	9	107578579	107578579	G	A	ABCA1	c.3583C>T	NM_005502.4	NP_005493.2:p.(Arg1195Trp)	NC_000009.11:g.107578579G>A	VUS	1 lab	ba6931423c
17:36483464 GPR179 G>A	17	36483464	36483464	G	A	GPR179	c.5988C>T	NM_001004334.4	NP_001004334.3:p.(Asp1996=)	NC_000017.10:g.36483464G>A	(Likely) benign	1 lab	ba69b981b8
16:88497772 ZNF469 G>C	16	88497772	88497772	G	C	ZNF469	c.3894G>C	NM_001367624.2	NP_001354553.1:p.(Val1298=)	NC_000016.9:g.88497772G>C	(Likely) benign	1 lab	ba6b0d27ed
17:59926479 BRIP1 ACT>A	17	59926479	59926483	ACT	A	BRIP1	c.507+9_507+10del	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59926482_59926483del	(Likely) benign	1 lab	ba738b2323
9:107593967 ABCA1 G>C	9	107593967	107593967	G	C	ABCA1	c.1651C>G	NM_005502.4	NP_005493.2:p.(His551Asp)	NC_000009.11:g.107593967G>C	VUS	1 lab	ba7c370f23
16:88502503 ZNF469 G>A	16	88502503	88502503	G	A	ZNF469	c.8625G>A	NM_001367624.2	NP_001354553.1:p.(Pro2875=)	NC_000016.9:g.88502503G>A	(Likely) benign	1 lab	ba7d785d41
2:21225904 APOB G>T	2	21225904	21225904	G	T	APOB	c.12390C>A	NM_000384.3	NP_000375.3:p.(Phe4130Leu)	NC_000002.11:g.21225904G>T	VUS	1 lab	ba86c7faed
2:73026670 MISSING G>Alt too long to show for this DUP	2	73026670	73077695	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.73026671_73077695dup	VUS	1 lab	ba88d25711
1:235543476 TBCE TTGTGTGTG>T	1	235543476	235543529	TTGTGTGTG	T	TBCE	c.100+58_100+65del	NM_001287801.2	NP_001274730.1:p.?	NC_000001.10:g.235543522_235543529del	(Likely) benign	1 lab	ba8b27bf53
12:40521895 MISSING Ref too long to show for this DEL>A	12	40521895	40655329	Ref too long to show for this DEL	A	MISSING				NC_000012.11:g.40521900_40655329del	VUS	1 lab	ba8eed9deb
2:179634666 TTN G>A	2	179634666	179634666	G	A	TTN	c.8642C>T	NM_001267550.2	NP_001254479.2:p.(Thr2881Ile)	NC_000002.11:g.179634666G>A	VUS	1 lab	ba8eefb450
14:23901010 MYH7 G>A	14	23901010	23901010	G	A	MYH7	c.599C>T	NM_000257.4	NP_000248.2:p.(Ala200Val)	NC_000014.8:g.23901010G>A	VUS	1 lab	ba95d793eb
8:19797049 LPL G>A	8	19797049	19797049	G	A	LPL	c.88+10G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797049G>A	(Likely) benign	1 lab	ba9f841b13
2:179443559 TTN T>TGCGATTTCAGG	2	179443559	179443560	T	TGCGATTTCAGG	TTN	c.68197_68198insCCTGAAATCGC	NM_001267550.2	NP_001254479.2:p.(Glu22733AlafsTer2)	NC_000002.11:g.179443559_179443560insGCGATTTCAGG	(Likely) pathogenic	1 lab	baa001af45
X:119077448 NKAP G>A	X	119077448	119077448	G	A	NKAP	c.121C>T	NM_024528.4	NP_078804.2:p.(Arg41Cys)	NC_000023.10:g.119077448G>A	VUS	1 lab	baa29cb612
9:94809543 SPTLC1 G>A	9	94809543	94809543	G	A	SPTLC1	c.992C>T	NM_006415.4	NP_006406.1:p.(Ser331Phe)	NC_000009.11:g.94809543G>A	(Likely) pathogenic	1 lab	bab0dfbb0d
1:145382361 MISSING G>Alt too long to show for this DUP	1	145382361	145810010	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.145382363_145810010dup	(Likely) pathogenic	1 lab	bb7941554a
5:138269565 CTNNA1 C>A	5	138269565	138269565	C	A	CTNNA1	c.2508C>A	NM_001903.5	NP_001894.2:p.(Ser836=)	NC_000005.9:g.138269565C>A	(Likely) benign	1 lab	bab2ad5966
22:50913208 SBF1 C>T	22	50913208	50913208	C	T	SBF1	c.55+7G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50913208C>T	(Likely) benign	1 lab	bab5feb9a6
15:85382231 ALPK3 A>T	15	85382231	85382231	A	T	ALPK3	c.325A>T	NM_020778.5	NP_065829.4:p.(Thr109Ser)	NC_000015.9:g.85382231A>T	VUS	1 lab	baba3b31db
22:50659380 TUBGCP6 G>A	22	50659380	50659380	G	A	TUBGCP6	c.3408C>T	NM_020461.4	NP_065194.3:p.(His1136=)	NC_000022.10:g.50659380G>A	(Likely) benign	1 lab	babaa9c210
15:22770421 MISSING Ref too long to show for this DEL>A	15	22770421	23191651	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770422_23191651del	(Likely) pathogenic	1 lab	babbe6c638
16:56997369 CETP A>T	16	56997369	56997369	A	T	CETP	c.233+333A>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997369A>T	(Likely) benign	1 lab	babce98eb2
11:61727414 BEST1 G>A	11	61727414	61727414	G	A	BEST1	c.819G>A	NM_001139443.2	NP_001132915.1:p.(Glu273=)	NC_000011.9:g.61727414G>A	(Likely) benign	1 lab	babcfb4f19
6:75806981 COL12A1 T>C	6	75806981	75806981	T	C	COL12A1	c.8565A>G	NM_004370.6	NP_004361.3:p.(Pro2855=)	NC_000006.11:g.75806981T>C	(Likely) benign	1 lab	babdcb1a90
12:125271970 SCARB1 C>T	12	125271970	125271970	C	T	SCARB1	c.1236G>A	NM_001367981.1	NP_001354910.1:p.(Pro412=)	NC_000012.11:g.125271970C>T	(Likely) benign	1 lab	babea38d0c
12:133218745 POLE G>A	12	133218745	133218745	G	A	POLE	c.5173+18C>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133218745G>A	(Likely) benign	1 lab	babf47dfa5
15:48431334 SLC24A5 CA>C	15	48431334	48431335	CA	C	SLC24A5	c.1041del	NM_205850.3	NP_995322.1:p.(Phe348LeufsTer11)	NC_000015.9:g.48431335del	(Likely) pathogenic	1 lab	bac112f6c7
9:130241795 LRSAM1 C>T	9	130241795	130241795	C	T	LRSAM1	c.903+11C>T	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130241795C>T	(Likely) benign	1 lab	baccd9a158
7:150655198 KCNH2 C>T	7	150655198	150655198	C	T	KCNH2	c.865G>A	NM_000238.4	NP_000229.1:p.(Glu289Lys)	NC_000007.13:g.150655198C>T	VUS	1 lab	bad18bc8cb
17:42286904 UBTF C>T	17	42286904	42286904	C	T	UBTF	c.1721G>A	NM_014233.4	NP_055048.1:p.(Gly574Asp)	NC_000017.10:g.42286904C>T	VUS	1 lab	bad1aa73f6
9:107571814 ABCA1 C>G	9	107571814	107571814	C	G	ABCA1	c.4207G>C	NM_005502.4	NP_005493.2:p.(Glu1403Gln)	NC_000009.11:g.107571814C>G	VUS	1 lab	bad5758a85
4:8037556 MISSING A>Alt too long to show for this DUP	4	8037556	8732731	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.8037559_8732731dup	VUS	1 lab	badc6b43b3
X:46901765 MISSING G>Alt too long to show for this DUP	X	46901765	46931117	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.46901766_46931117dup	VUS	1 lab	bc212792d1
10:54053369 PRKG1 A>G	10	54053369	54053369	A	G	PRKG1	c.1918-193A>G	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.54053369A>G	(Likely) benign	1 lab	badc72d695
11:71945332 INPPL1 A>G	11	71945332	71945332	A	G	INPPL1	c.2220A>G	NM_001567.4	NP_001558.3:p.(Ser740=)	NC_000011.9:g.71945332A>G	(Likely) benign	1 lab	badf18fd00
16:904538 LMF1 G>A	16	904538	904538	G	A	LMF1	c.1618C>T	NM_001352020.1	NP_001338949.1:p.(Pro540Ser)	NC_000016.9:g.904538G>A	VUS	1 lab	badf2314f6
15:99494192 MISSING C>Alt too long to show for this DUP	15	99494192	99996562	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.99494193_99996562dup	VUS	1 lab	bae501d37c
9:107562239 ABCA1 T>C	9	107562239	107562239	T	C	ABCA1	c.4804A>G	NM_005502.4	NP_005493.2:p.(Ile1602Val)	NC_000009.11:g.107562239T>C	VUS	1 lab	baee20fdd2
12:88478591 CEP290 T>C	12	88478591	88478591	T	C	CEP290	c.4476A>G	NM_025114.4	NP_079390.3:p.(Glu1492=)	NC_000012.11:g.88478591T>C	(Likely) benign	1 lab	baee8cd110
22:50898384 SBF1 C>T	22	50898384	50898384	C	T	SBF1	c.3488G>A	NM_002972.4	NP_002963.2:p.(Arg1163His)	NC_000022.10:g.50898384C>T	VUS	1 lab	baf1f74eaf
1:6536052 PLEKHG5 G>A	1	6536052	6536052	G	A	PLEKHG5	c.88C>T	NM_198681.4	NP_941374.3:p.(Arg30Cys)	NC_000001.10:g.6536052G>A	VUS	1 lab	baf3030086
15:40318256 EIF2AK4 C>T	15	40318256	40318256	C	T	EIF2AK4	c.4468C>T	NM_001013703.4	NP_001013725.2:p.(Leu1490=)	NC_000015.9:g.40318256C>T	(Likely) benign	1 lab	baf56d018a
6:75848180 COL12A1 A>C	6	75848180	75848180	A	C	COL12A1	c.5214T>G	NM_004370.6	NP_004361.3:p.(Ile1738Met)	NC_000006.11:g.75848180A>C	(Likely) benign	1 lab	baf88305aa
10:75849864 VCL A>G	10	75849864	75849864	A	G	VCL	c.1260A>G	NM_014000.3	NP_054706.1:p.(Glu420=)	NC_000010.10:g.75849864A>G	(Likely) benign	1 lab	bb03ddea58
X:153582584 FLNA C>T	X	153582584	153582584	C	T	FLNA	c.5492G>A	NM_001110556.2	NP_001104026.1:p.(Arg1831Gln)	NC_000023.10:g.153582584C>T	VUS	1 lab	bb05506f8f
19:42791484 MISSING C>Alt too long to show for this DUP	19	42791484	43013364	C	Alt too long to show for this DUP	MISSING				NC_000019.9:g.42791487_43013364dup	VUS	1 lab	bb070f1f69
2:179659897 TTN A>T	2	179659897	179659897	A	T	TTN	c.997T>A	NM_001267550.2	NP_001254479.2:p.(Ser333Thr)	NC_000002.11:g.179659897A>T	VUS	1 lab	bb07b374f0
4:100512350 MTTP C>T	4	100512350	100512350	C	T	MTTP	c.502-42C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512350C>T	(Likely) benign	1 lab	bb0cd34323
14:54417475 BMP4 C>G	14	54417475	54417475	C	G	BMP4	c.502G>C	NM_001202.6	NP_001193.2:p.(Gly168Arg)	NC_000014.8:g.54417475C>G	(Likely) benign	1 lab	bb194b5593
2:179582451 TTN T>G	2	179582451	179582451	T	G	TTN	c.25150A>C	NM_001267550.2	NP_001254479.2:p.(Asn8384His)	NC_000002.11:g.179582451T>G	VUS	1 lab	bb21dd5b27
16:1004403 LMF1 C>A	16	1004403	1004403	C	A	LMF1	c.130G>T	NM_001352019.2	NP_001338948.1:p.(Ala44Ser)	NC_000016.9:g.1004403C>A	VUS	1 lab	bb23d7e63b
19:11226784 LDLR C>A	19	11226784	11226784	C	A	LDLR	c.1601C>A	NM_000527.5	NP_000518.1:p.(Thr534Asn)	NC_000019.9:g.11226784C>A	(Likely) pathogenic	1 lab	bb2a781017
X:49088375 CACNA1F G>T	X	49088375	49088375	G	T	CACNA1F	c.40C>A	NM_005183.4	NP_005174.2:p.(Pro14Thr)	NC_000023.10:g.49088375G>T	VUS	1 lab	bb8be2b0da
5:120426695 MISSING Ref too long to show for this DEL>C	5	120426695	121282808	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.120426696_121282808del	VUS	1 lab	bb2be37f1f
17:10441154 MYH2 T>G	17	10441154	10441154	T	G	MYH2	c.1417-2A>C	NM_001100112.2	NP_001093582.1:p.?	NC_000017.10:g.10441154T>G	(Likely) pathogenic	1 lab	bb3233fbb8
4:2619317 MISSING T>Alt too long to show for this DUP	4	2619317	3191284	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.2619318_3191284dup	VUS	1 lab	bb32a72eda
1:103435819 COL11A1 C>G	1	103435819	103435819	C	G	COL11A1	c.2854G>C	NM_080629.3	NP_542196.2:p.(Gly952Arg)	NC_000001.10:g.103435819C>G	(Likely) pathogenic	1 lab	bb330ffdaf
2:44102568 ABCG8 G>A	2	44102568	44102568	G	A	ABCG8	c.1756+16G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102568G>A	(Likely) benign	1 lab	bb35a896f4
1:31423103 PUM1 G>A	1	31423103	31423103	G	A	PUM1	c.2727C>T	NM_001020658.2	NP_001018494.1:p.(Gly909=)	NC_000001.10:g.31423103G>A	(Likely) benign	1 lab	bb3cc2f82d
1:65830299 DNAJC6 T>G	1	65830299	65830299	T	G	DNAJC6	c.194-19T>G	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830299T>G	(Likely) benign	1 lab	bb3e64644f
20:46937892 MISSING Ref too long to show for this DEL>T	20	46937892	47445579	Ref too long to show for this DEL	T	MISSING				NC_000020.10:g.46937893_47445579del	VUS	1 lab	bb4ffb58b0
22:50903683 SBF1 G>A	22	50903683	50903683	G	A	SBF1	c.1164C>T	NM_002972.4	NP_002963.2:p.(Val388=)	NC_000022.10:g.50903683G>A	(Likely) benign	1 lab	bb51eefc8b
16:57012563 CETP A>T	16	57012563	57012563	A	T	CETP	c.1146+396A>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012563A>T	(Likely) benign	1 lab	bb53f2cc40
2:179474415 TTN G>A	2	179474415	179474415	G	A	TTN	c.51735C>T	NM_001267550.2	NP_001254479.2:p.(Pro17245=)	NC_000002.11:g.179474415G>A	(Likely) benign	1 lab	bb5696e0c0
12:125299677 SCARB1 T>G	12	125299677	125299677	T	G	SCARB1	c.285-17A>C	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125299677T>G	(Likely) benign	1 lab	bb69a155f7
2:44051507 ABCG5 C>G	2	44051507	44051507	C	G	ABCG5	c.969G>C	NM_022436.3	NP_071881.1:p.(Gln323His)	NC_000002.11:g.44051507C>G	VUS	1 lab	bb6bf181c7
1:66102224 LEPR A>G	1	66102224	66102224	A	G	LEPR	c.3024A>G	NM_002303.6	NP_002294.2:p.(Ser1008=)	NC_000001.10:g.66102224A>G	(Likely) benign	1 lab	bb701d35bb
2:131592271 MISSING Ref too long to show for this DEL>C	2	131592271	131915860	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.131592273_131915860del	VUS	1 lab	bb702135ca
2:219679131 CYP27A1 C>T	2	219679131	219679131	C	T	CYP27A1	c.1213C>T	NM_000784.4	NP_000775.1:p.(Arg405Trp)	NC_000002.11:g.219679131C>T	(Likely) pathogenic	1 lab	bb73c37211
X:70443647 GJB1 C>G	X	70443647	70443647	C	G	GJB1	c.90C>G	NM_000166.6	NP_000157.1:p.(Ile30Met)	NC_000023.10:g.70443647C>G	VUS	1 lab	bb74ea4641
11:116706759 APOA1 T>C	11	116706759	116706759	T	C	APOA1	c.242A>G	NM_001318021.1	NP_001304950.1:p.(Tyr81Cys)	NC_000011.9:g.116706759T>C	VUS	1 lab	bb7564172e
2:21228662 APOB G>T	2	21228662	21228662	G	T	APOB	c.11078C>A	NM_000384.3	NP_000375.3:p.(Thr3693Asn)	NC_000002.11:g.21228662G>T	VUS	1 lab	bb85aefeeb
16:88504206 ZNF469 G>T	16	88504206	88504206	G	T	ZNF469	c.10328G>T	NM_001367624.2	NP_001354553.1:p.(Gly3443Val)	NC_000016.9:g.88504206G>T	(Likely) benign	1 lab	bb89beee8d
9:107553275 ABCA1 T>C	9	107553275	107553275	T	C	ABCA1	c.5855A>G	NM_005502.4	NP_005493.2:p.(Lys1952Arg)	NC_000009.11:g.107553275T>C	VUS	1 lab	bb8d19ff6e
6:107050817 RTN4IP1 A>G	6	107050817	107050817	A	G	RTN4IP1	c.621-20T>C	NM_032730.5	NP_116119.2:p.?	NC_000006.11:g.107050817A>G	(Likely) benign	1 lab	bb8fcc7e7e
18:25589735 CDH2 C>T	18	25589735	25589735	C	T	CDH2	c.648G>A	NM_001792.5	NP_001783.2:p.(Ser216=)	NC_000018.9:g.25589735C>T	VUS	1 lab	bb927a443d
5:73069879 ARHGEF28 T>C	5	73069879	73069879	T	C	ARHGEF28	c.659+16T>C	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73069879T>C	(Likely) benign	1 lab	bb9443c12b
4:1195340 MISSING G>Alt too long to show for this DUP	4	1195340	1250179	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.1195342_1250179dup	VUS	1 lab	bb979e3a13
10:104161221 NFKB2 C>T	10	104161221	104161221	C	T	NFKB2	c.2239C>T	NM_001288724.1	NP_001275653.1:p.(Leu747=)	NC_000010.10:g.104161221C>T	(Likely) benign	1 lab	bba0849b3c
17:2239320 TSR1 G>C	17	2239320	2239320	G	C	TSR1	c.201+11C>G	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2239320G>C	(Likely) benign	1 lab	bba195380d
7:92146822 PEX1 A>G	7	92146822	92146822	A	G	PEX1	c.383T>C	NM_001282678.2	NP_001269607.1:p.(Val128Ala)	NC_000007.13:g.92146822A>G	VUS	1 lab	bba4c9f3bd
1:156849899 NTRK1 G>A	1	156849899	156849899	G	A	NTRK1	c.2155G>A	NM_002529.4	NP_002520.2:p.(Glu719Lys)	NC_000001.10:g.156849899G>A	(Likely) pathogenic	1 lab	bba518b91f
12:48524176 PFKM G>A	12	48524176	48524176	G	A	PFKM	c.425G>A	NM_001354736.1	NP_001341665.1:p.(Arg142Gln)	NC_000012.11:g.48524176G>A	VUS	1 lab	bba66c7289
11:75511469 DGAT2 G>A	11	75511469	75511469	G	A	DGAT2	c.1083G>A	NM_032564.5	NP_115953.2:p.(Met361Ile)	NC_000011.9:g.75511469G>A	(Likely) benign	1 lab	bba6c5ef4c
16:921235 LMF1 C>A	16	921235	921235	C	A	LMF1	c.605G>T	NM_001352018.2	NP_001338947.1:p.(Gly202Val)	NC_000016.9:g.921235C>A	VUS	1 lab	bd56accae3
9:137658263 COL5A1 T>C	9	137658263	137658263	T	C	COL5A1	c.2089-37T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658263T>C	(Likely) benign	1 lab	bbab52bf7f
18:53128330 TCF4 G>C	18	53128330	53128330	G	C	TCF4	c.224C>G	NM_001243228.2	NP_001230157.1:p.(Thr75Ser)	NC_000018.9:g.53128330G>C	VUS	1 lab	bbaf5aaacd
2:1499831 TPO C>T	2	1499831	1499831	C	T	TPO	c.2077C>T	NM_001206744.2	NP_001193673.1:p.(Arg693Trp)	NC_000002.11:g.1499831C>T	(Likely) pathogenic	1 lab	bbb20b1a4e
1:5993194 NPHP4 C>G	1	5993194	5993194	C	G	NPHP4	c.1302+13G>C	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5993194C>G	(Likely) benign	1 lab	bbb20d70ad
10:69926280 MYPN A>C	10	69926280	69926280	A	C	MYPN	c.1830A>C	NM_032578.4	NP_115967.2:p.(Glu610Asp)	NC_000010.10:g.69926280A>C	VUS	1 lab	bbb34474da
5:16475255 RETREG1 A>G	5	16475255	16475255	A	G	RETREG1	c.1089T>C	NM_001034850.3	NP_001030022.1:p.(Asp363=)	NC_000005.9:g.16475255A>G	(Likely) benign	1 lab	bbb3c87a10
14:102028064 DIO3 G>A	14	102028064	102028064	G	A	DIO3	c.231G>A	NM_001362.3	NP_001353.4:p.(Arg77=)	NC_000014.8:g.102028064G>A	(Likely) benign	1 lab	bbb3fbd816
2:238296323 COL6A3 A>G	2	238296323	238296323	A	G	COL6A3	c.1214T>C	NM_004369.4	NP_004360.2:p.(Phe405Ser)	NC_000002.11:g.238296323A>G	VUS	1 lab	bbb5395baf
8:10467678 RP1L1 T>C	8	10467678	10467678	T	C	RP1L1	c.3930A>G	NM_178857.6	NP_849188.4:p.(Thr1310=)	NC_000008.10:g.10467678T>C	(Likely) benign	1 lab	bbb9ef02e9
8:10468765 RP1L1 A>G	8	10468765	10468765	A	G	RP1L1	c.2843T>C	NM_178857.6	NP_849188.4:p.(Leu948Pro)	NC_000008.10:g.10468765A>G	VUS	1 lab	bbbafc8052
4:39267772 WDR19 G>A	4	39267772	39267772	G	A	WDR19	c.3261+12G>A	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39267772G>A	(Likely) benign	1 lab	bbbea474fd
20:10626169 JAG1 C>T	20	10626169	10626169	C	T	JAG1	c.2000-52G>A	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10626169C>T	(Likely) benign	1 lab	bbc1fc51ca
2:44102367 ABCG8 G>A	2	44102367	44102367	G	A	ABCG8	c.1571G>A	NM_022437.3	NP_071882.1:p.(Gly524Asp)	NC_000002.11:g.44102367G>A	VUS	1 lab	bbc77d3759
6:112510396 LAMA4 C>G	6	112510396	112510396	C	G	LAMA4	c.730G>C	NM_001105206.3	NP_001098676.2:p.(Gly244Arg)	NC_000006.11:g.112510396C>G	(Likely) benign	1 lab	bbcbabb7ea
17:40489504 STAT3 A>G	17	40489504	40489504	A	G	STAT3	c.746T>C	NM_139276.3	NP_644805.1:p.(Ile249Thr)	NC_000017.10:g.40489504A>G	(Likely) benign	1 lab	bbcbf988e2
16:28877983 SH2B1 G>T	16	28877983	28877983	G	T	SH2B1	c.568G>T	NM_015503.3	NP_056318.2:p.(Gly190Cys)	NC_000016.9:g.28877983G>T	VUS	1 lab	bbcc152527
12:118293345 KSR2 C>G	12	118293345	118293345	C	G	KSR2	c.360G>C	NM_173598.6	NP_775869.4:p.(Leu120Phe)	NC_000012.11:g.118293345C>G	VUS	1 lab	bbcf785443
13:45630697 MISSING G>Alt too long to show for this DUP	13	45630697	45906576	G	Alt too long to show for this DUP	MISSING				NC_000013.10:g.45630698_45906576dup	VUS	1 lab	bbcfccaeba
2:238449569 MLPH C>T	2	238449569	238449569	C	T	MLPH	c.1415C>T	NM_024101.7	NP_077006.1:p.(Thr472Met)	NC_000002.11:g.238449569C>T	(Likely) benign	1 lab	bbd83faeb0
15:34553200 SLC12A6 C>T	15	34553200	34553200	C	T	SLC12A6	c.338G>A	NM_133647.2	NP_598408.1:p.(Arg113Gln)	NC_000015.9:g.34553200C>T	VUS	1 lab	bbd8852bff
2:21232176 APOB G>A	2	21232176	21232176	G	A	APOB	c.7564C>T	NM_000384.3	NP_000375.3:p.(Arg2522Ter)	NC_000002.11:g.21232176G>A	(Likely) pathogenic	1 lab	bbdd9ce4a2
5:151266341 GLRA1 C>T	5	151266341	151266341	C	T	GLRA1	c.193G>A	NM_001146040.2	NP_001139512.1:p.(Val65Met)	NC_000005.9:g.151266341C>T	VUS	1 lab	bbe5fb1c49
2:179431019 TTN T>C	2	179431019	179431019	T	C	TTN	c.79840A>G	NM_001267550.2	NP_001254479.2:p.(Ile26614Val)	NC_000002.11:g.179431019T>C	VUS	1 lab	bbead91342
15:75673983 SIN3A CCTCTT>C	15	75673983	75673990	CCTCTT	C	SIN3A	c.3254_3258del	NM_001145358.2	NP_001138830.1:p.(Glu1085GlyfsTer5)	NC_000015.9:g.75673986_75673990del	(Likely) pathogenic	1 lab	bbed6033b0
4:100532314 MTTP G>C	4	100532314	100532314	G	C	MTTP	c.1784G>C	NM_000253.4	NP_000244.2:p.(Arg595Pro)	NC_000004.11:g.100532314G>C	(Likely) pathogenic	1 lab	bbf06c120f
15:34543092 SLC12A6 G>A	15	34543092	34543092	G	A	SLC12A6	c.1492+8C>T	NM_001365088.1	NP_001352017.1:p.?	NC_000015.9:g.34543092G>A	(Likely) benign	1 lab	bbf261336e
11:116701833 APOC3 G>A	11	116701833	116701833	G	A	APOC3	c.179+221G>A	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701833G>A	(Likely) benign	1 lab	bbf46ae7d6
22:45199433 ARHGAP8 T>Alt too long to show for this DUP	22	45199433	45217514	T	Alt too long to show for this DUP	ARHGAP8	c.167+1390_387-737dup	NM_181335.3	NP_851852.2:p.?	NC_000022.10:g.45199434_45217514dup	VUS	1 lab	bbf899d669
14:21679720 HNRNPC T>C	14	21679720	21679720	T	C	HNRNPC	c.682A>G	NM_031314.3	NP_112604.2:p.(Met228Val)	NC_000014.8:g.21679720T>C	(Likely) benign	1 lab	bbf9092427
19:11216099 LDLR T>C	19	11216099	11216099	T	C	LDLR	c.517T>C	NM_000527.5	NP_000518.1:p.(Cys173Arg)	NC_000019.9:g.11216099T>C	(Likely) pathogenic	1 lab	bbfe88ae51
9:107553524 ABCA1 A>G	9	107553524	107553524	A	G	ABCA1	c.5821-215T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107553524A>G	(Likely) benign	1 lab	bc0217e01e
1:236755937 HEATR1 TAA>T	1	236755937	236755948	TAA	T	HEATR1	c.1194-6_1194-5del	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236755947_236755948del	(Likely) benign	1 lab	bc036836a8
15:48703223 FBN1 A>ATC	15	48703223	48703225	A	ATC	FBN1	c.8578_8579dup	NM_000138.5	NP_000129.3:p.(Asp2860GlufsTer4)	NC_000015.9:g.48703224_48703225dup	(Likely) pathogenic	1 lab	bc06329b59
2:189854975 COL3A1 T>A	2	189854975	189854975	T	A	COL3A1	c.745-58T>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189854975T>A	(Likely) benign	1 lab	bc0891081d
18:21120394 NPC1 AAAAG>A	18	21120394	21120398	AAAAG	A	NPC1	c.2604+14_2604+17del	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21120395_21120398del	(Likely) benign	1 lab	bc0ac6c0b9
6:16145537 MYLIP G>A	6	16145537	16145537	G	A	MYLIP	c.1237G>A	NM_013262.4	NP_037394.2:p.(Ala413Thr)	NC_000006.11:g.16145537G>A	(Likely) benign	1 lab	bc0b111964
6:84765029 MRAP2 A>C	6	84765029	84765029	A	C	MRAP2	c.-7-2A>C	NM_001346542.2	NP_001333471.1:p.?	NC_000006.11:g.84765029A>C	(Likely) benign	1 lab	bc0ce381be
11:47356906 MYBPC3 T>C	11	47356906	47356906	T	C	MYBPC3	c.2738-146A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356906T>C	(Likely) benign	1 lab	bc10e86ca4
9:91956347 SECISBP2 A>G	9	91956347	91956347	A	G	SECISBP2	c.1184A>G	NM_001282690.1	NP_001269619.1:p.(Gln395Arg)	NC_000009.11:g.91956347A>G	(Likely) benign	1 lab	bc115e19fd
7:33148815 RP9 C>T	7	33148815	33148815	C	T	RP9	c.152+18G>A	NM_203288.2	NP_976033.1:p.?	NC_000007.13:g.33148815C>T	(Likely) benign	1 lab	bc11776583
12:132547093 EP400 A>G	12	132547093	132547093	A	G	EP400	c.8181A>G	NM_015409.5	NP_056224.3:p.(Gln2727=)	NC_000012.11:g.132547093A>G	(Likely) benign	1 lab	bc11955355
11:68170853 LRP5 G>A	11	68170853	68170853	G	A	LRP5	c.1585-98G>A	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68170853G>A	(Likely) benign	1 lab	bc12e5ac6b
5:125523256 MISSING Ref too long to show for this DEL>C	5	125523256	125553143	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.125523257_125553143del	VUS	1 lab	bc1e7a1df9
2:179408603 TTN G>A	2	179408603	179408603	G	A	TTN	c.96268C>T	NM_001267550.2	NP_001254479.2:p.(Gln32090Ter)	NC_000002.11:g.179408603G>A	(Likely) pathogenic	1 lab	bc20fddd6f
19:13446673 CACNA1A GA>G	19	13446673	13446674	GA	G	CACNA1A	c.1028del	NM_023035.3	NP_075461.2:p.(Leu343ProfsTer10)	NC_000019.9:g.13446674del	(Likely) pathogenic	1 lab	bc2834d2e3
7:590124 PRKAR1B A>G	7	590124	590124	A	G	PRKAR1B	c.1089T>C	NM_001164761.2	NP_001158233.1:p.(Ser363=)	NC_000007.13:g.590124A>G	(Likely) benign	1 lab	bc342b31fa
4:16189980 TAPT1 T>TA	4	16189980	16189991	T	TA	TAPT1	c.613-3dup	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16189991dup	(Likely) benign	1 lab	bc39064011
19:1226494 STK11 C>T	19	1226494	1226494	C	T	STK11	c.1150C>T	NM_000455.5	NP_000446.1:p.(Arg384Trp)	NC_000019.9:g.1226494C>T	VUS	1 lab	bc41cb814f
11:47366532 MYBPC3 G>T	11	47366532	47366532	G	T	MYBPC3	c.1090+1226C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366532G>T	(Likely) benign	1 lab	bc437e3f36
2:96961305 SNRNP200 C>A	2	96961305	96961305	C	A	SNRNP200	c.1763G>T	NM_014014.5	NP_054733.2:p.(Cys588Phe)	NC_000002.11:g.96961305C>A	VUS	1 lab	bc50ad7176
6:35473768 TULP1 C>G	6	35473768	35473768	C	G	TULP1	c.999+12G>C	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35473768C>G	(Likely) benign	1 lab	bc559b9187
16:961321 LMF1 C>T	16	961321	961321	C	T	LMF1	c.116-242G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.961321C>T	(Likely) benign	1 lab	bc56548cfc
1:237058715 MTR A>G	1	237058715	237058715	A	G	MTR	c.3463A>G	NM_000254.3	NP_000245.2:p.(Ser1155Gly)	NC_000001.10:g.237058715A>G	VUS	1 lab	bc5890fb75
5:32724856 NPR3 G>A	5	32724856	32724856	G	A	NPR3	c.822G>A	NM_001204375.2	NP_001191304.1:p.(Ala274=)	NC_000005.9:g.32724856G>A	(Likely) benign	1 lab	bc5fdb6771
17:75398524 SEPTIN9 A>G	17	75398524	75398524	A	G	SEPTIN9	c.406A>G	NM_006640.5	NP_006631.2:p.(Ile136Val)	NC_000017.10:g.75398524A>G	VUS	1 lab	bc6c55c88e
6:129786404 LAMA2 TC>T	6	129786404	129786405	TC	T	LAMA2	c.7271del	NM_000426.4	NP_000417.3:p.(Ser2424TyrfsTer16)	NC_000006.11:g.129786405del	(Likely) pathogenic	1 lab	bc6e4680f0
5:58286721 PDE4D T>C	5	58286721	58286721	T	C	PDE4D	c.429A>G	NM_001364604.1	NP_001351533.1:p.(Glu143=)	NC_000005.9:g.58286721T>C	(Likely) benign	1 lab	bc722d355f
7:81641570 CACNA2D1 G>GAAA	7	81641570	81641583	G	GAAA	CACNA2D1	c.1273-14_1273-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641581_81641583dup	(Likely) benign	1 lab	bc78106709
7:151267237 PRKAG2 G>GA	7	151267237	151267247	G	GA	PRKAG2	c.1106+19dup	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151267247dup	(Likely) benign	1 lab	bc7f58f91b
10:134411042 MISSING A>Alt too long to show for this DUP	10	134411042	134934786	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.134411047_134934786dup	VUS	1 lab	bc81e006d5
2:219526577 BCS1L C>T	2	219526577	219526577	C	T	BCS1L	c.556C>T	NM_004328.5	NP_004319.1:p.(Arg186Ter)	NC_000002.11:g.219526577C>T	(Likely) pathogenic	1 lab	bc8935f030
1:151733379 MRPL9 CAAA>C	1	151733379	151733402	CAAA	C	MRPL9	c.589-7_589-5del	NM_031420.4	NP_113608.1:p.?	NC_000001.10:g.151733400_151733402del	(Likely) benign	1 lab	bc8b3a3055
1:47713647 MISSING C>Alt too long to show for this DUP	1	47713647	47729075	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.47713648_47729075dup	VUS	1 lab	bc8d4d24f4
19:36227852 KMT2B G>A	19	36227852	36227852	G	A	KMT2B	c.7337G>A	NM_014727.3	NP_055542.1:p.(Arg2446Gln)	NC_000019.9:g.36227852G>A	VUS	1 lab	bc8e0c658e
10:71052083 HK1 C>T	10	71052083	71052083	C	T	HK1	c.-114-3306C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71052083C>T	(Likely) benign	1 lab	bc8e963e5d
5:148407709 SH3TC2 C>T	5	148407709	148407709	C	T	SH3TC2	c.1586G>A	NM_024577.4	NP_078853.2:p.(Arg529His)	NC_000005.9:g.148407709C>T	(Likely) pathogenic	1 lab	bc90061da7
X:8538760 ANOS1 C>T	X	8538760	8538760	C	T	ANOS1	c.857-15G>A	NM_000216.4	NP_000207.2:p.?	NC_000023.10:g.8538760C>T	(Likely) benign	1 lab	bc96049369
2:44059233 ABCG5 A>G	2	44059233	44059233	A	G	ABCG5	c.266-11T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44059233A>G	VUS	1 lab	bc966f4fb8
1:10370386 KIF1B Ref too long to show for this DEL>T	1	10370386	10377511	Ref too long to show for this DEL	T	KIF1B	c.2116-9712_2116-2590del	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10370389_10377511del	(Likely) benign	1 lab	bc9865b554
2:21225315 APOB T>A	2	21225315	21225315	T	A	APOB	c.12979A>T	NM_000384.3	NP_000375.3:p.(Asn4327Tyr)	NC_000002.11:g.21225315T>A	VUS	1 lab	bc98cc4f07
18:59752455 PIGN C>T	18	59752455	59752455	C	T	PIGN	c.2413G>A	NM_176787.5	NP_789744.1:p.(Ala805Thr)	NC_000018.9:g.59752455C>T	VUS	1 lab	bc9d2a771b
8:144297206 GPIHBP1 G>A	8	144297206	144297206	G	A	GPIHBP1	c.368G>A	NM_178172.6	NP_835466.2:p.(Gly123Glu)	NC_000008.10:g.144297206G>A	VUS	1 lab	bc9d7a6747
8:144998190 PLEC A>G	8	144998190	144998190	A	G	PLEC	c.6318T>C	NM_201380.4	NP_958782.1:p.(Ala2106=)	NC_000008.10:g.144998190A>G	(Likely) benign	1 lab	bcaa8b7ec3
6:32011825 TNXB C>T	6	32011825	32011825	C	T	TNXB	c.11339G>A	NM_019105.8	NP_061978.6:p.(Arg3780Gln)	NC_000006.11:g.32011825C>T	VUS	1 lab	bcaac7de29
2:179635146 TTN G>A	2	179635146	179635146	G	A	TTN	c.8373C>T	NM_001267550.2	NP_001254479.2:p.(His2791=)	NC_000002.11:g.179635146G>A	(Likely) benign	1 lab	bcacf4ac65
12:32861133 DNM1L CAG>C	12	32861133	32861136	CAG	C	DNM1L	c.385_386del	NM_001278464.2	NP_001265393.1:p.(Glu129LysfsTer6)	NC_000012.11:g.32861135_32861136del	(Likely) pathogenic	1 lab	bcb10ed8e9
19:54625980 PRPF31 G>A	19	54625980	54625980	G	A	PRPF31	c.420+7G>A	NM_015629.4	NP_056444.3:p.?	NC_000019.9:g.54625980G>A	(Likely) benign	1 lab	bcb36bff81
19:11216101 LDLR C>G	19	11216101	11216101	C	G	LDLR	c.519C>G	NM_000527.5	NP_000518.1:p.(Cys173Trp)	NC_000019.9:g.11216101C>G	(Likely) pathogenic	1 lab	bcb4a1ef4f
2:25384456 POMC CGCCGCTGCT>C	2	25384456	25384476	CGCCGCTGCT	C	POMC	c.289_297del	NM_001035256.3	NP_001030333.1:p.(Ser97_Gly99del)	NC_000002.11:g.25384468_25384476del	VUS	1 lab	bcb9c8de7d
18:29116296 DSG2 G>T	18	29116296	29116296	G	T	DSG2	c.1555G>T	NM_001943.5	NP_001934.2:p.(Asp519Tyr)	NC_000018.9:g.29116296G>T	VUS	1 lab	bcc4c9ad50
3:195507010 MUC4 A>G	3	195507010	195507010	A	G	MUC4	c.11441T>C	NM_018406.7	NP_060876.5:p.(Leu3814Pro)	NC_000003.11:g.195507010A>G	(Likely) benign	1 lab	bcc4fdb5fc
16:929654 LMF1 G>A	16	929654	929654	G	A	LMF1	c.414C>T	NM_001352018.2	NP_001338947.1:p.(His138=)	NC_000016.9:g.929654G>A	(Likely) benign	1 lab	bcc50308eb
5:139748220 SLC4A9 C>T	5	139748220	139748220	C	T	SLC4A9	c.2475C>T	NM_001258428.2	NP_001245357.1:p.(Ser825=)	NC_000005.9:g.139748220C>T	(Likely) benign	1 lab	bcc5aa3f89
22:38379794 SOX10 CGCCCCCG>C	22	38379794	38379804	CGCCCCCG	C	SOX10	c.-10_-4del	NM_006941.4	NP_008872.1:p.?	NC_000022.10:g.38379798_38379804del	(Likely) benign	1 lab	bcca45ca32
5:168088836 SLIT3 A>Alt too long to show for this DUP	5	168088836	168133516	A	Alt too long to show for this DUP	SLIT3	c.2844+1465_*4622dup	NM_003062.4	NP_003053.2:p.?	NC_000005.9:g.168088837_168133516dup	VUS	1 lab	bcca88e0a4
9:78949267 MISSING Ref too long to show for this DEL>T	9	78949267	79007364	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.78949268_79007364del	VUS	1 lab	bcd14e1d74
4:16215537 TAPT1 T>G	4	16215537	16215537	T	G	TAPT1	c.200-16A>C	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16215537T>G	(Likely) benign	1 lab	bcd1846fd9
19:11216162 LDLR A>ACTGCTC	19	11216162	11216163	A	ACTGCTC	LDLR	c.580_581insCTGCTC	NM_000527.5	NP_000518.1:p.(Ser194delinsThrAlaArg)	NC_000019.9:g.11216162_11216163insCTGCTC	(Likely) pathogenic	1 lab	bcd72901c9
6:72926879 RIMS1 C>T	6	72926879	72926879	C	T	RIMS1	c.-13C>T	NM_001168410.2	NP_001161882.1:p.?	NC_000006.11:g.72926879C>T	(Likely) benign	1 lab	bcd9cd2e82
7:69464145 AUTS2 Ref too long to show for this DEL>G	7	69464145	69504297	Ref too long to show for this DEL	G	AUTS2	c.522+99662_523-78821del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69464146_69504297del	VUS	1 lab	bcdcbce6dd
2:215617154 BARD1 G>A	2	215617154	215617154	G	A	BARD1	c.1677+17C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215617154G>A	(Likely) benign	1 lab	bce4fd9430
16:1004623 LMF1 G>A	16	1004623	1004623	G	A	LMF1	c.237C>T	NM_022773.4	NP_073610.2:p.(Ile79=)	NC_000016.9:g.1004623G>A	(Likely) benign	1 lab	becd6ae192
9:111929230 FRRS1L G>A	9	111929230	111929230	G	A	FRRS1L	c.189C>T	NM_014334.4	NP_055149.3:p.(Tyr63=)	NC_000009.11:g.111929230G>A	(Likely) benign	1 lab	bce9d4b3f5
9:35807650 NPR2 C>G	9	35807650	35807650	C	G	NPR2	c.2712+255C>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35807650C>G	(Likely) benign	1 lab	bcf55cd006
10:91007415 LIPA T>C	10	91007415	91007415	T	C	LIPA	c.-1-9A>G	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91007415T>C	(Likely) benign	1 lab	bcf9596409
2:51242492 MISSING Ref too long to show for this DEL>G	2	51242492	51477551	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.51242493_51477551del	(Likely) pathogenic	1 lab	bcf9fe3e4f
17:39914968 JUP G>A	17	39914968	39914968	G	A	JUP	c.1652C>T	NM_001352773.2	NP_001339702.1:p.(Thr551Met)	NC_000017.10:g.39914968G>A	VUS	1 lab	bcfeaa0409
5:33963934 SLC45A2 G>A	5	33963934	33963934	G	A	SLC45A2	c.750C>T	NM_001012509.4	NP_001012527.2:p.(Pro250=)	NC_000005.9:g.33963934G>A	(Likely) benign	1 lab	bcff7893aa
12:77439823 E2F7 G>C	12	77439823	77439823	G	C	E2F7	c.824C>G	NM_203394.3	NP_976328.2:p.(Pro275Arg)	NC_000012.11:g.77439823G>C	(Likely) benign	1 lab	bd01d94827
9:107562269 ABCA1 C>A	9	107562269	107562269	C	A	ABCA1	c.4774G>T	NM_005502.4	NP_005493.2:p.(Val1592Leu)	NC_000009.11:g.107562269C>A	VUS	1 lab	bd051d21bf
9:4118434 GLIS3 G>A	9	4118434	4118434	G	A	GLIS3	c.1044C>T	NM_001042413.2	NP_001035878.1:p.(Tyr348=)	NC_000009.11:g.4118434G>A	(Likely) benign	1 lab	bd0b808157
3:148899772 CP A>ACCCCC	3	148899772	148899777	A	ACCCCC	CP	c.2554+15_2554+19dup	NM_000096.4	NP_000087.2:p.?	NC_000003.11:g.148899773_148899777dup	(Likely) benign	1 lab	bd0f9961c3
8:100221866 VPS13B C>A	8	100221866	100221866	C	A	VPS13B	c.2562C>A	NM_015243.3	NP_056058.2:p.(Ala854=)	NC_000008.10:g.100221866C>A	(Likely) benign	1 lab	bd1492f1a8
1:55524981 PCSK9 C>T	1	55524981	55524981	C	T	PCSK9	c.1504-178C>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524981C>T	(Likely) benign	1 lab	bd1693f889
11:2683174 KCNQ1 CCA>C	11	2683174	2683179	CCA	C	KCNQ1	c.1394-13_1394-12del	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683178_2683179del	(Likely) benign	1 lab	bd16e67022
2:167055776 SCN9A G>A	2	167055776	167055776	G	A	SCN9A	c.5340C>T	NM_002977.3	NP_002968.1:p.(Pro1780=)	NC_000002.11:g.167055776G>A	(Likely) benign	1 lab	bd17ddb31b
2:174696107 MISSING Ref too long to show for this DEL>A	2	174696107	176616080	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.174696109_176616080del	VUS	1 lab	bd1b05017b
15:42703134 CAPN3 C>CA	15	42703134	42703137	C	CA	CAPN3	c.2319dup	NM_000070.3	NP_000061.1:p.(His774ThrfsTer7)	NC_000015.9:g.42703137dup	(Likely) pathogenic	1 lab	bd227bc027
6:7566460 DSP T>A	6	7566460	7566460	T	A	DSP	c.940-150T>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566460T>A	(Likely) benign	1 lab	bd2d3640a2
8:68340291 CPA6 T>C	8	68340291	68340291	T	C	CPA6	c.1117A>G	NM_020361.5	NP_065094.3:p.(Thr373Ala)	NC_000008.10:g.68340291T>C	VUS	1 lab	bd31fbeb24
11:130014662 MISSING T>Alt too long to show for this DUP	11	130014662	130049934	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.130014663_130049934dup	VUS	1 lab	bd41ec6a7c
2:179611900 TTN G>A	2	179611900	179611900	G	A	TTN	c.15227C>T	NM_133379.5	NP_596870.2:p.(Pro5076Leu)	NC_000002.11:g.179611900G>A	(Likely) benign	1 lab	bd42e273c4
12:71523199 TSPAN8 T>TA	12	71523199	71523211	T	TA	TSPAN8	c.577-6dup	NM_004616.3	NP_004607.1:p.?	NC_000012.11:g.71523211dup	(Likely) benign	1 lab	bd4638206f
5:7896957 MTRR C>CT	5	7896957	7896968	C	CT	MTRR	c.1677-9dup	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7896968dup	(Likely) benign	1 lab	bd4d084441
2:105979752 FHL2 G>A	2	105979752	105979752	G	A	FHL2	c.678C>T	NM_201555.2	NP_963849.1:p.(Asn226=)	NC_000002.11:g.105979752G>A	(Likely) benign	1 lab	bd4ec7f61c
19:622633 POLRMT C>T	19	622633	622633	C	T	POLRMT	c.1575G>A	NM_005035.4	NP_005026.3:p.(Ala525=)	NC_000019.9:g.622633C>T	(Likely) benign	1 lab	bd4f4f5bd2
9:12702336 TYRP1 C>T	9	12702336	12702336	C	T	TYRP1	c.979C>T	NM_000550.3	NP_000541.1:p.(Leu327Phe)	NC_000009.11:g.12702336C>T	VUS	1 lab	bd5270d791
2:105472276 POU3F3 ACGC>A	2	105472276	105472297	ACGC	A	POU3F3	c.327_329del	NM_006236.3	NP_006227.1:p.(Ala115del)	NC_000002.11:g.105472295_105472297del	(Likely) benign	1 lab	bd5ccf87fb
9:139315680 MISSING T>Alt too long to show for this DUP	9	139315680	139435356	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.139315681_139435356dup	VUS	1 lab	bd632af355
X:85155684 CHM A>G	X	85155684	85155684	A	G	CHM	c.1380T>C	NM_000390.4	NP_000381.1:p.(Asp460=)	NC_000023.10:g.85155684A>G	(Likely) benign	1 lab	bd6415172d
9:35560075 RUSC2 T>C	9	35560075	35560075	T	C	RUSC2	c.3438T>C	NM_001135999.1	NP_001129471.1:p.(His1146=)	NC_000009.11:g.35560075T>C	(Likely) benign	1 lab	bd64f23423
11:68701924 IGHMBP2 C>G	11	68701924	68701924	C	G	IGHMBP2	c.1538-8C>G	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68701924C>G	(Likely) benign	1 lab	bdc8050a24
5:127641656 FBN2 T>A	5	127641656	127641656	T	A	FBN2	c.5423-16A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127641656T>A	(Likely) benign	1 lab	bd7021d4ad
9:96439007 PHF2 G>T	9	96439007	96439007	G	T	PHF2	c.2964G>T	NM_005392.4	NP_005383.3:p.(Pro988=)	NC_000009.11:g.96439007G>T	(Likely) benign	1 lab	bd73c70eb9
17:80544980 FOXK2 G>A	17	80544980	80544980	G	A	FOXK2	c.1618G>A	NM_004514.4	NP_004505.2:p.(Gly540Ser)	NC_000017.10:g.80544980G>A	(Likely) benign	1 lab	bd75dafd70
17:48264512 COL1A1 G>T	17	48264512	48264512	G	T	COL1A1	c.3424-29C>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48264512G>T	(Likely) benign	1 lab	bd7b11ffcc
12:25362863 KRAS T>C	12	25362863	25362863	T	C	KRAS	c.*5-18A>G	NM_033360.4	NP_203524.1:p.?	NC_000012.11:g.25362863T>C	(Likely) benign	1 lab	bd7ce7b8b3
10:27702509 PTCHD3 G>C	10	27702509	27702509	G	C	PTCHD3	c.671C>G	NM_001034842.4	NP_001030014.2:p.(Ala224Gly)	NC_000010.10:g.27702509G>C	(Likely) benign	1 lab	bd7f293388
11:2790079 KCNQ1 G>A	11	2790079	2790079	G	A	KCNQ1	c.1520G>A	NM_000218.3	NP_000209.2:p.(Arg507Gln)	NC_000011.9:g.2790079G>A	VUS	1 lab	bd803726fe
12:18715827 PIK3C2G G>A	12	18715827	18715827	G	A	PIK3C2G	c.3780+1G>A	NM_001288772.2	NP_001275701.1:p.?	NC_000012.11:g.18715827G>A	VUS	1 lab	bd8556fe85
6:112512978 LAMA4 G>A	6	112512978	112512978	G	A	LAMA4	c.578C>T	NM_001105206.3	NP_001098676.2:p.(Ser193Leu)	NC_000006.11:g.112512978G>A	VUS	1 lab	bd89bf1a1f
2:21251199 APOB T>C	2	21251199	21251199	T	C	APOB	c.1829A>G	NM_000384.3	NP_000375.3:p.(Asp610Gly)	NC_000002.11:g.21251199T>C	(Likely) benign	1 lab	bd8cdcd343
3:183860634 EIF2B5 G>A	3	183860634	183860634	G	A	EIF2B5	c.1614G>A	NM_003907.3	NP_003898.2:p.(Pro538=)	NC_000003.11:g.183860634G>A	(Likely) benign	1 lab	bd96388ac9
2:200233370 SATB2 G>A	2	200233370	200233370	G	A	SATB2	c.658C>T	NM_001172509.2	NP_001165980.1:p.(Gln220Ter)	NC_000002.11:g.200233370G>A	(Likely) pathogenic	1 lab	bda66c601e
11:1778607 CTSD G>A	11	1778607	1778607	G	A	CTSD	c.651C>T	NM_001909.5	NP_001900.1:p.(Asn217=)	NC_000011.9:g.1778607G>A	(Likely) benign	1 lab	bdaf1e84c4
X:83477586 MISSING T>Alt too long to show for this DUP	X	83477586	83616513	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.83477587_83616513dup	VUS	1 lab	bdb1681f6c
16:81396217 GAN G>C	16	81396217	81396217	G	C	GAN	c.1086+1G>C	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81396217G>C	(Likely) pathogenic	1 lab	bdb3afcd8b
10:90700791 ACTA2 TCTC>T	10	90700791	90700797	TCTC	T	ACTA2	c.616+192_616+194del	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90700795_90700797del	(Likely) benign	1 lab	bdb7d254e8
4:114275581 ANK2 G>A	4	114275581	114275581	G	A	ANK2	c.5948G>A	NM_001386174.1	NP_001373103.1:p.(Arg1983His)	NC_000004.11:g.114275581G>A	VUS	1 lab	bdb8dd6391
17:1674423 SERPINF1 G>A	17	1674423	1674423	G	A	SERPINF1	c.384G>A	NM_002615.7	NP_002606.3:p.(Thr128=)	NC_000017.10:g.1674423G>A	(Likely) benign	1 lab	bdbe95a62f
10:73548818 CDH23 C>T	10	73548818	73548818	C	T	CDH23	c.5923+19C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73548818C>T	(Likely) benign	1 lab	bdc2988c01
17:10447089 MYH2 T>A	17	10447089	10447089	T	A	MYH2	c.680A>T	NM_001100112.2	NP_001093582.1:p.(Asn227Ile)	NC_000017.10:g.10447089T>A	VUS	1 lab	bdc4ca59d8
15:63358083 TPM1 A>G	15	63358083	63358083	A	G	TPM1	c.*1738A>G	NM_001365781.2	NP_001352710.1:p.?	NC_000015.9:g.63358083A>G	(Likely) benign	1 lab	bdc64892ef
3:28370125 MISSING Ref too long to show for this DEL>A	3	28370125	28398235	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.28370131_28398235del	VUS	1 lab	bdcbf25a29
16:57689230 ADGRG1 GGT>G	16	57689230	57689247	GGT	G	ADGRG1	c.769-65_769-64del	NM_001145772.3	NP_001139244.1:p.?	NC_000016.9:g.57689246_57689247del	(Likely) benign	1 lab	bdd351f760
2:21266797 APOB C>T	2	21266797	21266797	C	T	APOB	c.21G>A	NM_000384.3	NP_000375.3:p.(Ala7=)	NC_000002.11:g.21266797C>T	(Likely) benign	1 lab	bdd6ad938c
X:49065034 CACNA1F GTCA>G	X	49065034	49065043	GTCA	G	CACNA1F	c.5094_5096del	NM_005183.4	NP_005174.2:p.(Asp1699del)	NC_000023.10:g.49065041_49065043del	VUS	1 lab	bddc2cd941
17:79803092 P4HB G>A	17	79803092	79803092	G	A	P4HB	c.1374C>T	NM_000918.4	NP_000909.2:p.(Asn458=)	NC_000017.10:g.79803092G>A	(Likely) benign	1 lab	bde00af539
2:97426976 CNNM4 C>CT	2	97426976	97426977	C	CT	CNNM4	c.241dup	NM_020184.4	NP_064569.3:p.(Tyr81LeufsTer153)	NC_000002.11:g.97426977dup	(Likely) pathogenic	1 lab	bde1ea74db
10:112724174 SHOC2 T>C	10	112724174	112724174	T	C	SHOC2	c.58T>C	NM_007373.4	NP_031399.2:p.(Ser20Pro)	NC_000010.10:g.112724174T>C	(Likely) benign	1 lab	bde6602645
8:10469885 RP1L1 C>T	8	10469885	10469885	C	T	RP1L1	c.1723G>A	NM_178857.6	NP_849188.4:p.(Ala575Thr)	NC_000008.10:g.10469885C>T	(Likely) benign	1 lab	bdebc6d899
19:1060074 MISSING Ref too long to show for this DEL>T	19	1060074	1629846	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.1060075_1629846del	(Likely) pathogenic	1 lab	bded297171
12:53202891 MISSING C>Alt too long to show for this DUP	12	53202891	53225772	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.53202892_53225772dup	VUS	1 lab	bdf03892cf
16:918776 LMF1 C>CG	16	918776	918788	C	CG	LMF1	c.1130+167dup	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.918788dup	(Likely) benign	1 lab	bff012c7cf
2:179537401 TTN G>A	2	179537401	179537401	G	A	TTN	c.34816C>T	NM_001267550.2	NP_001254479.2:p.(Pro11606Ser)	NC_000002.11:g.179537401G>A	VUS	1 lab	bdf1da8768
19:55341621 KIR3DL1 G>C	19	55341621	55341621	G	C	KIR3DL1	c.1226G>C	NM_013289.3	NP_037421.2:p.(Arg409Thr)	NC_000019.9:g.55341621G>C	(Likely) benign	1 lab	bdf35c4cb7
15:58837954 LIPC G>A	15	58837954	58837954	G	A	LIPC	c.588G>A	NM_000236.3	NP_000227.2:p.(Ala196=)	NC_000015.9:g.58837954G>A	(Likely) benign	1 lab	bdf8ca2e5d
15:48786692 FBN1 G>A	15	48786692	48786692	G	A	FBN1	c.2678-241C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48786692G>A	VUS	1 lab	bdfa21a059
6:157099981 ARID1B GGGCGGC>G	6	157099981	157100007	GGGCGGC	G	ARID1B	c.1188_1193del	NM_001371656.1	NP_001358585.1:p.(Gly401_Gly402del)	NC_000006.11:g.157100002_157100007del	(Likely) benign	1 lab	bdfae4d993
6:15651642 DTNBP1 GAAA>G	6	15651642	15651655	GAAA	G	DTNBP1	c.111-51_111-49del	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15651653_15651655del	(Likely) benign	1 lab	bdfbccd09a
4:170536802 CLCN3 T>Alt too long to show for this DUP	4	170536802	170610490	T	Alt too long to show for this DUP	CLCN3				NC_000004.11:g.170536804_170610490dup	VUS	1 lab	be0472106a
15:85410535 ALPK3 T>C	15	85410535	85410535	T	C	ALPK3	c.4724-13T>C	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85410535T>C	(Likely) benign	1 lab	be05967620
11:128786517 KCNJ5 C>A	11	128786517	128786517	C	A	KCNJ5	c.1151C>A	NM_000890.5	NP_000881.3:p.(Pro384Gln)	NC_000011.9:g.128786517C>A	VUS	1 lab	be089cf9ab
2:44079542 ABCG8 G>A	2	44079542	44079542	G	A	ABCG8	c.611G>A	NM_022437.3	NP_071882.1:p.(Arg204His)	NC_000002.11:g.44079542G>A	VUS	1 lab	be0b2c2503
X:79278676 TBX22 G>T	X	79278676	79278676	G	T	TBX22	c.293G>T	NM_001109878.2	NP_001103348.1:p.(Gly98Val)	NC_000023.10:g.79278676G>T	(Likely) pathogenic	1 lab	be0bf2bad0
11:10794054 CTR9 T>C	11	10794054	10794054	T	C	CTR9	c.2445-13T>C	NM_014633.5	NP_055448.1:p.?	NC_000011.9:g.10794054T>C	(Likely) benign	1 lab	be0e1147b8
16:1511469 CLCN7 G>C	16	1511469	1511469	G	C	CLCN7	c.288C>G	NM_001287.6	NP_001278.1:p.(Ser96Arg)	NC_000016.9:g.1511469G>C	VUS	1 lab	be14e8cd0f
20:62126197 EEF1A2 G>A	20	62126197	62126197	G	A	EEF1A2	c.582C>T	NM_001958.5	NP_001949.1:p.(Ser194=)	NC_000020.10:g.62126197G>A	(Likely) benign	1 lab	be15b71506
2:44041484 ABCG5 A>T	2	44041484	44041484	A	T	ABCG5	c.1762+132T>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44041484A>T	(Likely) benign	1 lab	be16897da5
6:146126606 FBXO30 T>C	6	146126606	146126606	T	C	FBXO30	c.936A>G	NM_032145.5	NP_115521.3:p.(Leu312=)	NC_000006.11:g.146126606T>C	(Likely) benign	1 lab	be174b8f71
17:39925231 JUP G>A	17	39925231	39925231	G	A	JUP	c.697C>T	NM_001352773.2	NP_001339702.1:p.(Arg233Cys)	NC_000017.10:g.39925231G>A	VUS	1 lab	be1b4480d1
2:44079971 ABCG8 C>G	2	44079971	44079971	C	G	ABCG8	c.928C>G	NM_022437.3	NP_071882.1:p.(Pro310Ala)	NC_000002.11:g.44079971C>G	VUS	1 lab	be1eaaa27f
16:1003443 LMF1 C>CCACTGCTTCTG	16	1003443	1003445	C	CCACTGCTTCTG	LMF1	c.-52+913_-52+914insCAGAAGCAGTG	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003444_1003445insACTGCTTCTGC	(Likely) benign	1 lab	be1f47eb70
2:1459960 TPO C>T	2	1459960	1459960	C	T	TPO	c.725C>T	NM_001206744.2	NP_001193673.1:p.(Ala242Val)	NC_000002.11:g.1459960C>T	VUS	1 lab	be1f51840e
5:148366571 SH3TC2 T>C	5	148366571	148366571	T	C	SH3TC2	c.*17703A>G	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148366571T>C	(Likely) benign	1 lab	be23ead1a4
5:89988509 ADGRV1 G>A	5	89988509	89988509	G	A	ADGRV1	c.7039G>A	NM_032119.4	NP_115495.3:p.(Asp2347Asn)	NC_000005.9:g.89988509G>A	(Likely) benign	1 lab	be2567d1f2
X:152962739 MISSING Ref too long to show for this DEL>C	X	152962739	153290820	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.152962743_153290820del	(Likely) pathogenic	1 lab	be2a906c03
12:1005689 WNK1 T>G	12	1005689	1005689	T	G	WNK1	c.6816T>G	NM_001184985.2	NP_001171914.1:p.(Ser2272=)	NC_000012.11:g.1005689T>G	(Likely) benign	1 lab	be2daa3f64
16:1412060 GNPTG C>T	16	1412060	1412060	C	T	GNPTG	c.339C>T	NM_032520.5	NP_115909.1:p.(Ile113=)	NC_000016.9:g.1412060C>T	(Likely) benign	1 lab	be303a58b0
7:72413104 POM121 G>A	7	72413104	72413104	G	A	POM121	c.1777G>A	NM_001257190.3	NP_001244119.1:p.(Ala593Thr)	NC_000007.13:g.72413104G>A	(Likely) benign	1 lab	be30e3dc5b
16:55844924 CES1 T>TAA	16	55844924	55844938	T	TAA	CES1	c.1087-4_1087-3dup	NM_001025195.2	NP_001020366.1:p.?	NC_000016.9:g.55844937_55844938dup	(Likely) benign	1 lab	be30ef8f1c
11:116661592 APOA5 A>C	11	116661592	116661592	A	C	APOA5	c.353T>G	NM_052968.5	NP_443200.2:p.(Val118Gly)	NC_000011.9:g.116661592A>C	(Likely) pathogenic	1 lab	be324606e6
9:26984277 IFT74 A>G	9	26984277	26984277	A	G	IFT74	c.328A>G	NM_001099222.3	NP_001092692.1:p.(Thr110Ala)	NC_000009.11:g.26984277A>G	(Likely) benign	1 lab	be339a840f
1:236883408 ACTN2 TTGTTG>T	1	236883408	236883413	TTGTTG	T	ACTN2	c.366_370del	NM_001103.4	NP_001094.1:p.(Val123TrpfsTer25)	NC_000001.10:g.236883409_236883413del	(Likely) benign	1 lab	be34cea8f6
2:21226074 APOB C>T	2	21226074	21226074	C	T	APOB	c.12220G>A	NM_000384.3	NP_000375.3:p.(Val4074Met)	NC_000002.11:g.21226074C>T	VUS	1 lab	be3580c7be
17:41226337 BRCA1 T>C	17	41226337	41226337	T	C	BRCA1	c.4675+11A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41226337T>C	(Likely) benign	1 lab	be359e2fec
9:107568508 ABCA1 T>G	9	107568508	107568508	T	G	ABCA1	c.4464+14A>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107568508T>G	(Likely) benign	1 lab	be35b5dae5
7:128488744 FLNC C>T	7	128488744	128488744	C	T	FLNC	c.4710C>T	NM_001458.5	NP_001449.3:p.(Gly1570=)	NC_000007.13:g.128488744C>T	VUS	1 lab	be3657641d
11:76901924 MYO7A G>GCCTGGAAGCACCTCCT	11	76901924	76901927	G	GCCTGGAAGCACCTCCT	MYO7A	c.3924+11_3924+12insTGGAAGCACCTCCTCC	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76901926_76901927insTGGAAGCACCTCCTCC	(Likely) benign	1 lab	be3dc23ee2
X:32482748 DMD G>T	X	32482748	32482748	G	T	DMD	c.2862C>A	NM_004010.3	NP_004001.1:p.(Ala954=)	NC_000023.10:g.32482748G>T	(Likely) benign	1 lab	be40c9fdb1
16:21273412 CRYM G>A	16	21273412	21273412	G	A	CRYM	c.741C>T	NM_001888.5	NP_001879.1:p.(Tyr247=)	NC_000016.9:g.21273412G>A	(Likely) benign	1 lab	be410c47bb
5:1217074 SLC6A19 G>A	5	1217074	1217074	G	A	SLC6A19	c.1173+14G>A	NM_001003841.3	NP_001003841.1:p.?	NC_000005.9:g.1217074G>A	(Likely) benign	1 lab	be4965a55b
19:1220633 STK11 G>A	19	1220633	1220633	G	A	STK11	c.651G>A	NM_000455.5	NP_000446.1:p.(Pro217=)	NC_000019.9:g.1220633G>A	(Likely) benign	1 lab	be4a6b50a7
6:112537645 LAMA4 G>T	6	112537645	112537645	G	T	LAMA4	c.221C>A	NM_002290.5	NP_002281.3:p.(Thr74Asn)	NC_000006.11:g.112537645G>T	VUS	1 lab	be4b1d0911
2:179518981 TTN T>A	2	179518981	179518981	T	A	TTN	c.38334A>T	NM_001267550.2	NP_001254479.2:p.(Lys12778Asn)	NC_000002.11:g.179518981T>A	VUS	1 lab	be50ce97d7
X:54020155 PHF8 T>C	X	54020155	54020155	T	C	PHF8	c.1505A>G	NM_015107.3	NP_055922.1:p.(Lys502Arg)	NC_000023.10:g.54020155T>C	VUS	1 lab	be5a76c763
2:56104593 EFEMP1 A>G	2	56104593	56104593	A	G	EFEMP1	c.760+288T>C	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56104593A>G	(Likely) benign	1 lab	be5e75703a
3:14174102 TMEM43 GCTGGGCC>G	3	14174102	14174110	GCTGGGCC	G	TMEM43	c.442+9_442+15del	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14174104_14174110del	(Likely) benign	1 lab	be5fc066c3
16:28403341 MISSING Ref too long to show for this DEL>C	16	28403341	30199351	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.28403344_30199351del	(Likely) pathogenic	1 lab	be65bda423
X:28833249 IL1RAPL1 C>Alt too long to show for this DUP	X	28833249	28839653	C	Alt too long to show for this DUP	IL1RAPL1	c.82+25709_82+32111dup	NM_014271.4	NP_055086.1:p.?	NC_000023.10:g.28833251_28839653dup	VUS	1 lab	be66e86177
10:71129309 HK1 A>T	10	71129309	71129309	A	T	HK1	c.768A>T	NM_033500.2	NP_277035.2:p.(Gly256=)	NC_000010.10:g.71129309A>T	(Likely) benign	1 lab	be6e559ac6
X:118603894 SLC25A5 C>T	X	118603894	118603894	C	T	SLC25A5	c.382C>T	NM_001152.5	NP_001143.2:p.(Leu128=)	NC_000023.10:g.118603894C>T	(Likely) benign	1 lab	be6ea5a8ad
2:48027656 MSH6 A>G	2	48027656	48027656	A	G	MSH6	c.2534A>G	NM_000179.3	NP_000170.1:p.(Tyr845Cys)	NC_000002.11:g.48027656A>G	VUS	1 lab	be6f5b6532
15:45386442 DUOX2 C>G	15	45386442	45386442	C	G	DUOX2	c.4553G>C	NM_014080.5	NP_054799.4:p.(Gly1518Ala)	NC_000015.9:g.45386442C>G	(Likely) pathogenic	1 lab	be74e2aad4
8:134107312 SLA G>A	8	134107312	134107312	G	A	SLA	c.-319+7485C>T	NM_001045556.3	NP_001039021.1:p.?	NC_000008.10:g.134107312G>A	(Likely) benign	1 lab	be77928eac
16:70896160 HYDIN T>A	16	70896160	70896160	T	A	HYDIN	c.11570-2A>T	NM_001270974.2	NP_001257903.1:p.?	NC_000016.9:g.70896160T>A	VUS	1 lab	be77ba1150
9:2192720 SMARCA2 G>C	9	2192720	2192720	G	C	SMARCA2	c.4754G>C	NM_003070.5	NP_003061.3:p.(Ser1585Thr)	NC_000009.11:g.2192720G>C	(Likely) benign	1 lab	be7ad43609
1:214556723 PTPN14 C>A	1	214556723	214556723	C	A	PTPN14	c.2475G>T	NM_005401.5	NP_005392.2:p.(Val825=)	NC_000001.10:g.214556723C>A	(Likely) benign	1 lab	be86555926
11:103313942 MISSING Ref too long to show for this DEL>A	11	103313942	103372595	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.103313944_103372595del	(Likely) pathogenic	1 lab	be8752cd3c
8:30933816 WRN CT>C	8	30933816	30933828	CT	C	WRN	c.839+25del	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30933828del	(Likely) benign	1 lab	be87703848
16:88498681 ZNF469 A>G	16	88498681	88498681	A	G	ZNF469	c.4803A>G	NM_001367624.2	NP_001354553.1:p.(Thr1601=)	NC_000016.9:g.88498681A>G	(Likely) benign	1 lab	be8bc83ffa
2:179595646 TTN A>G	2	179595646	179595646	A	G	TTN	c.17740+6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179595646A>G	VUS	1 lab	be8c9c19f5
4:165876251 TRIM61 C>CA	4	165876251	165876271	C	CA	TRIM61	c.526-4dup	NM_001012414.3	NP_001012414.1:p.?	NC_000004.11:g.165876271dup	(Likely) benign	1 lab	be9366845b
17:75372339 SEPTIN9 C>T	17	75372339	75372339	C	T	SEPTIN9	c.-558C>T	NM_001113494.1	NP_001106966.1:p.?	NC_000017.10:g.75372339C>T	(Likely) benign	1 lab	be983d17aa
7:155596353 SHH G>A	7	155596353	155596353	G	A	SHH	c.630C>T	NM_000193.4	NP_000184.1:p.(Gly210=)	NC_000007.13:g.155596353G>A	(Likely) benign	1 lab	be9cb4338d
1:55521859 PCSK9 C>T	1	55521859	55521859	C	T	PCSK9	c.993C>T	NM_174936.4	NP_777596.2:p.(Pro331=)	NC_000001.10:g.55521859C>T	(Likely) benign	1 lab	be9f8853e3
4:114277299 ANK2 C>T	4	114277299	114277299	C	T	ANK2	c.7525C>T	NM_001148.6	NP_001139.3:p.(Leu2509=)	NC_000004.11:g.114277299C>T	(Likely) benign	1 lab	bea84c90b2
2:21230663 APOB T>A	2	21230663	21230663	T	A	APOB	c.9077A>T	NM_000384.3	NP_000375.3:p.(Asn3026Ile)	NC_000002.11:g.21230663T>A	(Likely) benign	1 lab	bea9cba984
10:90976184 LIPA TAG>T	10	90976184	90976203	TAG	T	LIPA	c.895-420_895-419del	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.90976202_90976203del	(Likely) benign	1 lab	beae4967fc
3:8743761 MISSING C>Alt too long to show for this DUP	3	8743761	8776038	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.8743762_8776038dup	VUS	1 lab	beaf645648
8:100479817 VPS13B C>T	8	100479817	100479817	C	T	VPS13B	c.3621C>T	NM_017890.5	NP_060360.3:p.(Leu1207=)	NC_000008.10:g.100479817C>T	(Likely) benign	1 lab	beb016560e
2:179449797 TTN A>C	2	179449797	179449797	A	C	TTN	c.64672+2T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179449797A>C	VUS	1 lab	beb6adb056
2:21224811 APOB ACTG>A	2	21224811	21224817	ACTG	A	APOB	c.13480_13482del	NM_000384.3	NP_000375.3:p.(Gln4494del)	NC_000002.11:g.21224815_21224817del	VUS	1 lab	beb80391b8
19:11221456 LDLR C>T	19	11221456	11221456	C	T	LDLR	c.1060+9C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221456C>T	(Likely) benign	1 lab	bebad5b4b0
1:63064450 ANGPTL3 T>C	1	63064450	63064450	T	C	ANGPTL3	c.579T>C	NM_014495.4	NP_055310.1:p.(His193=)	NC_000001.10:g.63064450T>C	(Likely) benign	1 lab	bebc39ef1e
22:50894629 SBF1 G>A	22	50894629	50894629	G	A	SBF1	c.4266+16C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50894629G>A	(Likely) benign	1 lab	bebc7ecd46
8:59409503 CYP7A1 T>C	8	59409503	59409503	T	C	CYP7A1	c.568A>G	NM_000780.4	NP_000771.2:p.(Arg190Gly)	NC_000008.10:g.59409503T>C	VUS	1 lab	bee73d45b4
X:149687447 MISSING G>Alt too long to show for this DUP	X	149687447	149931546	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.149687448_149931546dup	VUS	1 lab	bec31ee9ba
18:10677877 PIEZO2 GA>G	18	10677877	10677879	GA	G	PIEZO2	c.7614-6del	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10677879del	(Likely) benign	1 lab	bec7cbec4b
6:100838246 SIM1 G>A	6	100838246	100838246	G	A	SIM1	c.2292C>T	NM_005068.3	NP_005059.2:p.(Asn764=)	NC_000006.11:g.100838246G>A	(Likely) benign	1 lab	becfa5fcb9
6:16143391 MYLIP T>C	6	16143391	16143391	T	C	MYLIP	c.605T>C	NM_013262.4	NP_037394.2:p.(Ile202Thr)	NC_000006.11:g.16143391T>C	VUS	1 lab	bed492894e
11:2797214 KCNQ1 C>T	11	2797214	2797214	C	T	KCNQ1	c.1615C>T	NM_000218.3	NP_000209.2:p.(Arg539Trp)	NC_000011.9:g.2797214C>T	(Likely) pathogenic	1 lab	bed5740dbf
16:28878120 SH2B1 G>A	16	28878120	28878120	G	A	SH2B1	c.705G>A	NM_015503.3	NP_056318.2:p.(Arg235=)	NC_000016.9:g.28878120G>A	(Likely) benign	1 lab	bedbd94b35
16:68368224 MISSING C>Alt too long to show for this DUP	16	68368224	68412069	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.68368225_68412069dup	VUS	1 lab	bede809dba
7:91714002 AKAP9 G>A	7	91714002	91714002	G	A	AKAP9	c.8695G>A	NM_005751.5	NP_005742.4:p.(Glu2899Lys)	NC_000007.13:g.91714002G>A	VUS	1 lab	bee2437075
9:79986015 VPS13A A>G	9	79986015	79986015	A	G	VPS13A	c.9027A>G	NM_033305.3	NP_150648.2:p.(Pro3009=)	NC_000009.11:g.79986015A>G	(Likely) benign	1 lab	bee53714ac
13:111289549 NAXD C>T	13	111289549	111289549	C	T	NAXD	c.846C>T	NM_018210.4	NP_060680.2:p.(Gly282=)	NC_000013.10:g.111289549C>T	(Likely) benign	1 lab	bee53ae64b
11:31811460 PAX6 CT>C	11	31811460	31811483	CT	C	PAX6	c.731del	NM_001368929.2	NP_001355858.1:p.(Lys244ArgfsTer29)	NC_000011.9:g.31811483del	(Likely) benign	1 lab	bee842a5e9
X:154120599 MISSING G>Alt too long to show for this DUP	X	154120599	154565718	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154120600_154565718dup	VUS	1 lab	bef0866ca2
22:22971851 MISSING Ref too long to show for this DEL>G	22	22971851	23654223	Ref too long to show for this DEL	G	MISSING				NC_000022.10:g.22971854_23654223del	(Likely) pathogenic	1 lab	bef4e617e0
19:47259268 FKRP C>A	19	47259268	47259268	C	A	FKRP	c.561C>A	NM_001039885.3	NP_001034974.1:p.(Ala187=)	NC_000019.9:g.47259268C>A	(Likely) benign	1 lab	bef712dc95
17:57897908 MISSING Ref too long to show for this DEL>A	17	57897908	57925162	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.57897910_57925162del	VUS	1 lab	bef740c11c
12:125296910 SCARB1 G>A	12	125296910	125296910	G	A	SCARB1	c.631-399C>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125296910G>A	(Likely) benign	1 lab	bef8b6e614
7:92147184 PEX1 G>C	7	92147184	92147184	G	C	PEX1	c.21C>G	NM_001282678.2	NP_001269607.1:p.(Thr7=)	NC_000007.13:g.92147184G>C	(Likely) benign	1 lab	bf01cb4b75
7:624221 PRKAR1B T>A	7	624221	624221	T	A	PRKAR1B	c.709-16A>T	NM_001164761.2	NP_001158233.1:p.?	NC_000007.13:g.624221T>A	(Likely) benign	1 lab	bf04bbaa02
7:21847509 DNAH11 C>T	7	21847509	21847509	C	T	DNAH11	c.10174C>T	NM_001277115.2	NP_001264044.1:p.(Arg3392Cys)	NC_000007.13:g.21847509C>T	VUS	1 lab	bf07808d9e
14:78045469 SPTLC2 A>G	14	78045469	78045469	A	G	SPTLC2	c.328-17T>C	NM_004863.4	NP_004854.1:p.?	NC_000014.8:g.78045469A>G	(Likely) benign	1 lab	bf09b5f031
15:34543108 SLC12A6 G>C	15	34543108	34543108	G	C	SLC12A6	c.1484C>G	NM_133647.2	NP_598408.1:p.(Ser495Cys)	NC_000015.9:g.34543108G>C	VUS	1 lab	bf09b8b3a7
2:182468820 CERKL A>T	2	182468820	182468820	A	T	CERKL	c.239-14T>A	NM_001030311.3	NP_001025482.1:p.?	NC_000002.11:g.182468820A>T	(Likely) benign	1 lab	bf1341ad72
1:218609008 TGFB2 C>G	1	218609008	218609008	C	G	TGFB2	c.755-304C>G	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218609008C>G	(Likely) benign	1 lab	bf18ff44b2
2:25057344 ADCY3 C>T	2	25057344	25057344	C	T	ADCY3	c.1967+10G>A	NM_004036.5	NP_004027.2:p.?	NC_000002.11:g.25057344C>T	(Likely) benign	1 lab	bf1bb07181
X:153130519 L1CAM TC>T	X	153130519	153130522	TC	T	L1CAM	c.2872+23del	NM_000425.5	NP_000416.1:p.?	NC_000023.10:g.153130522del	(Likely) benign	1 lab	bf1de00b99
X:152710970 TREX2 G>A	X	152710970	152710970	G	A	TREX2	c.-65-17C>T	NM_080701.4	NP_542432.2:p.?	NC_000023.10:g.152710970G>A	(Likely) benign	1 lab	bf23c0ecb2
12:124265662 DNAH10 G>A	12	124265662	124265662	G	A	DNAH10	c.474G>A	NM_207437.3	NP_997320.2:p.(Arg158=)	NC_000012.11:g.124265662G>A	(Likely) benign	1 lab	bf25e66cec
2:44049616 ABCG5 G>GCC	2	44049616	44049617	G	GCC	ABCG5	c.1463+319_1463+320insGG	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049616_44049617insCC	(Likely) benign	1 lab	bf3588c82a
10:12162849 DHTKD1 C>T	10	12162849	12162849	C	T	DHTKD1	c.2722C>T	NM_018706.7	NP_061176.4:p.(His908Tyr)	NC_000010.10:g.12162849C>T	VUS	1 lab	bf36e17499
7:94026990 COL1A2 T>A	7	94026990	94026990	T	A	COL1A2	c.71-70T>A	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94026990T>A	(Likely) benign	1 lab	bf3c0e818e
2:179514890 TTN C>T	2	179514890	179514890	C	T	TTN	c.39817+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179514890C>T	VUS	1 lab	bf41534461
10:68138896 CTNNA3 G>A	10	68138896	68138896	G	A	CTNNA3	c.1732+14C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68138896G>A	(Likely) benign	1 lab	bf43c5fe89
11:6645068 DCHS1 C>T	11	6645068	6645068	C	T	DCHS1	c.7839G>A	NM_003737.4	NP_003728.1:p.(Glu2613=)	NC_000011.9:g.6645068C>T	(Likely) benign	1 lab	bf4d87df98
2:21225616 APOB C>T	2	21225616	21225616	C	T	APOB	c.12678G>A	NM_000384.3	NP_000375.3:p.(Thr4226=)	NC_000002.11:g.21225616C>T	(Likely) benign	1 lab	bf50eaa716
9:12695837 TYRP1 G>T	9	12695837	12695837	G	T	TYRP1	c.708G>T	NM_000550.3	NP_000541.1:p.(Gln236His)	NC_000009.11:g.12695837G>T	VUS	1 lab	bf549fd564
10:126691563 CTBP2 A>G	10	126691563	126691563	A	G	CTBP2	c.1944T>C	NM_022802.3	NP_073713.2:p.(Tyr648=)	NC_000010.10:g.126691563A>G	(Likely) benign	1 lab	bf5a943f8a
8:100479841 VPS13B G>A	8	100479841	100479841	G	A	VPS13B	c.3645G>A	NM_017890.5	NP_060360.3:p.(Glu1215=)	NC_000008.10:g.100479841G>A	(Likely) benign	1 lab	bf601cd3af
1:79356817 ADGRL4 Ref too long to show for this DEL>A	1	79356817	79420779	Ref too long to show for this DEL	A	ADGRL4	c.173-8666_*21del	NM_022159.4	NP_071442.2:p.?	NC_000001.10:g.79356820_79420779del	VUS	1 lab	bf60aee15f
1:95530519 ALG14 G>C	1	95530519	95530519	G	C	ALG14	c.191C>G	NM_144988.4	NP_659425.1:p.(Ser64Ter)	NC_000001.10:g.95530519G>C	VUS	1 lab	bf60baca1e
X:70443210 GJB1 C>T	X	70443210	70443210	C	T	GJB1	c.-17+25C>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70443210C>T	(Likely) benign	1 lab	bf61c3d105
8:19810888 LPL G>T	8	19810888	19810888	G	T	LPL	c.497G>T	NM_000237.3	NP_000228.1:p.(Gly166Val)	NC_000008.10:g.19810888G>T	(Likely) pathogenic	1 lab	bf6a5097bf
7:95906627 SLC25A13 A>G	7	95906627	95906627	A	G	SLC25A13	c.93T>C	NM_014251.3	NP_055066.1:p.(Gly31=)	NC_000007.13:g.95906627A>G	(Likely) benign	1 lab	bf6bf51cb6
10:67680226 CTNNA3 C>T	10	67680226	67680226	C	T	CTNNA3	c.2550G>A	NM_013266.4	NP_037398.2:p.(Met850Ile)	NC_000010.10:g.67680226C>T	VUS	1 lab	bf6d899fb3
12:125296446 SCARB1 G>A	12	125296446	125296446	G	A	SCARB1	c.696C>T	NM_005505.5	NP_005496.4:p.(His232=)	NC_000012.11:g.125296446G>A	(Likely) benign	1 lab	bf714b5fc7
5:13900312 DNAH5 T>C	5	13900312	13900312	T	C	DNAH5	c.2259+3A>G	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13900312T>C	VUS	1 lab	bf72dce8c2
7:151478383 PRKAG2 C>T	7	151478383	151478383	C	T	PRKAG2	c.321G>A	NM_016203.4	NP_057287.2:p.(Pro107=)	NC_000007.13:g.151478383C>T	(Likely) benign	1 lab	bf761a0633
3:38648169 SCN5A GAGGC>G	3	38648169	38648173	GAGGC	G	SCN5A	c.1127_1130del	NM_001099404.2	NP_001092874.1:p.(Arg376ProfsTer14)	NC_000003.11:g.38648170_38648173del	(Likely) benign	1 lab	bf769de923
9:34500842 DNAI1 G>T	9	34500842	34500842	G	T	DNAI1	c.1031+5G>T	NM_001281428.2	NP_001268357.1:p.?	NC_000009.11:g.34500842G>T	(Likely) pathogenic	1 lab	bf802a2f78
4:122737519 EXOSC9 C>A	4	122737519	122737519	C	A	EXOSC9	c.1208-5C>A	NM_001034194.2	NP_001029366.1:p.?	NC_000004.11:g.122737519C>A	(Likely) benign	1 lab	bf88c92506
3:38662426 SCN5A CAG>C	3	38662426	38662431	CAG	C	SCN5A	c.517_518del	NM_198056.3	NP_932173.1:p.(Leu173GlyfsTer26)	NC_000003.11:g.38662430_38662431del	(Likely) pathogenic	1 lab	bf891337ba
7:128477320 FLNC G>A	7	128477320	128477320	G	A	FLNC	c.699+9G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477320G>A	(Likely) benign	1 lab	bf89d7797c
19:7620512 PNPLA6 G>A	19	7620512	7620512	G	A	PNPLA6	c.2986G>A	NM_001166111.2	NP_001159583.1:p.(Val996Ile)	NC_000019.9:g.7620512G>A	VUS	1 lab	bf8fc61544
11:66335503 CTSF G>C	11	66335503	66335503	G	C	CTSF	c.264C>G	NM_003793.4	NP_003784.2:p.(Pro88=)	NC_000011.9:g.66335503G>C	(Likely) benign	1 lab	bf989e3ac1
10:75873965 VCL C>A	10	75873965	75873965	C	A	VCL	c.2769C>A	NM_003373.4	NP_003364.1:p.(Ala923=)	NC_000010.10:g.75873965C>A	(Likely) benign	1 lab	bfa434b708
8:144295762 GPIHBP1 G>A	8	144295762	144295762	G	A	GPIHBP1	c.118G>A	NM_178172.6	NP_835466.2:p.(Glu40Lys)	NC_000008.10:g.144295762G>A	VUS	1 lab	bfa457bc0f
2:44051453 ABCG5 A>G	2	44051453	44051453	A	G	ABCG5	c.1023T>C	NM_022436.3	NP_071881.1:p.(Asn341=)	NC_000002.11:g.44051453A>G	(Likely) benign	1 lab	bfa4acc5b9
X:75677239 MISSING A>Alt too long to show for this DUP	X	75677239	75979221	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.75677241_75979221dup	VUS	1 lab	bfa5705a38
1:215814052 USH2A G>A	1	215814052	215814052	G	A	USH2A	c.14816C>T	NM_206933.4	NP_996816.3:p.(Ser4939Leu)	NC_000001.10:g.215814052G>A	(Likely) benign	1 lab	bfa6a10a52
2:21228615 APOB CA>C	2	21228615	21228618	CA	C	APOB	c.11124del	NM_000384.3	NP_000375.3:p.(Phe3708LeufsTer16)	NC_000002.11:g.21228618del	(Likely) pathogenic	1 lab	bfad65dcd6
18:47109922 LIPG G>C	18	47109922	47109922	G	C	LIPG	c.1158-4G>C	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47109922G>C	(Likely) benign	1 lab	bfae65572a
15:48826367 FBN1 G>A	15	48826367	48826367	G	A	FBN1	c.772C>T	NM_000138.5	NP_000129.3:p.(Gln258Ter)	NC_000015.9:g.48826367G>A	(Likely) pathogenic	1 lab	bfb033d0ad
1:94480241 ABCA4 G>A	1	94480241	94480241	G	A	ABCA4	c.5318C>T	NM_000350.3	NP_000341.2:p.(Ala1773Val)	NC_000001.10:g.94480241G>A	(Likely) pathogenic	1 lab	bfb229072c
8:24813035 NEFL T>G	8	24813035	24813035	T	G	NEFL	c.995A>C	NM_006158.5	NP_006149.2:p.(Gln332Pro)	NC_000008.10:g.24813035T>G	(Likely) pathogenic	1 lab	bfb2e76f17
9:18960472 MISSING C>Alt too long to show for this DUP	9	18960472	19438435	C	Alt too long to show for this DUP	MISSING				NC_000009.11:g.18960473_19438435dup	VUS	1 lab	bfb3436dda
2:97463234 CNNM4 G>A	2	97463234	97463234	G	A	CNNM4	c.1547-16G>A	NM_020184.4	NP_064569.3:p.?	NC_000002.11:g.97463234G>A	(Likely) benign	1 lab	bfbae58f91
18:47107814 LIPG G>A	18	47107814	47107814	G	A	LIPG	c.823G>A	NM_006033.4	NP_006024.1:p.(Glu275Lys)	NC_000018.9:g.47107814G>A	(Likely) pathogenic	1 lab	bfbaf1cc3c
15:72105907 NR2E3 G>T	15	72105907	72105907	G	T	NR2E3	c.926G>T	NM_016346.4	NP_057430.1:p.(Arg309Leu)	NC_000015.9:g.72105907G>T	(Likely) pathogenic	1 lab	bfbba29a5a
9:107602607 ABCA1 C>T	9	107602607	107602607	C	T	ABCA1	c.1007G>A	NM_005502.4	NP_005493.2:p.(Gly336Asp)	NC_000009.11:g.107602607C>T	VUS	1 lab	bfbccadb4c
16:929618 LMF1 G>A	16	929618	929618	G	A	LMF1	c.849C>T	NM_022773.4	NP_073610.2:p.(Leu283=)	NC_000016.9:g.929618G>A	(Likely) benign	1 lab	bfc69befcd
2:21229039 APOB C>T	2	21229039	21229039	C	T	APOB	c.10701G>A	NM_000384.3	NP_000375.3:p.(Thr3567=)	NC_000002.11:g.21229039C>T	(Likely) benign	1 lab	bfc6b9d645
10:33009526 CCDC7 Ref too long to show for this DEL>G	10	33009526	33094050	Ref too long to show for this DEL	G	CCDC7	c.2570-6131_3097+24del	NM_001395015.1	NP_001381944.1:p.?	NC_000010.10:g.33009531_33094050del	VUS	1 lab	bfc9a27b46
12:33031539 PKP2 C>CTAAT	12	33031539	33031545	C	CTAAT	PKP2	c.337-66_337-63dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33031542_33031545dup	(Likely) benign	1 lab	bfcb1f23d2
3:164799210 MISSING A>Alt too long to show for this DUP	3	164799210	164890623	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.164799214_164890623dup	VUS	1 lab	bfcb20c02c
7:127894516 LEP C>G	7	127894516	127894516	C	G	LEP	c.204C>G	NM_000230.3	NP_000221.1:p.(Pro68=)	NC_000007.13:g.127894516C>G	(Likely) benign	1 lab	bfce00662c
17:41245762 BRCA1 G>C	17	41245762	41245762	G	C	BRCA1	c.1786C>G	NM_007294.4	NP_009225.1:p.(Leu596Val)	NC_000017.10:g.41245762G>C	(Likely) benign	1 lab	bfcf65493f
16:56370675 GNAO1 G>A	16	56370675	56370675	G	A	GNAO1	c.626G>A	NM_138736.3	NP_620073.2:p.(Arg209His)	NC_000016.9:g.56370675G>A	(Likely) pathogenic	1 lab	bfd8369e2c
5:37239800 CPLANE1 C>T	5	37239800	37239800	C	T	CPLANE1	c.834+15G>A	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37239800C>T	(Likely) benign	1 lab	bfd965fbbc
9:107580480 ABCA1 C>T	9	107580480	107580480	C	T	ABCA1	c.3462+464G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107580480C>T	(Likely) benign	1 lab	bfde219634
19:1037871 CNN2 C>A	19	1037871	1037871	C	A	CNN2	c.902C>A	NM_004368.4	NP_004359.1:p.(Pro301His)	NC_000019.9:g.1037871C>A	(Likely) benign	1 lab	bfdf2f7b92
15:58855368 LIPC G>A	15	58855368	58855368	G	A	LIPC	c.1170-336G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855368G>A	(Likely) benign	1 lab	bfe0289b51
5:127686433 FBN2 A>G	5	127686433	127686433	A	G	FBN2	c.2812+127T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127686433A>G	(Likely) benign	1 lab	bfe3c72a37
2:179438010 TTN T>G	2	179438010	179438010	T	G	TTN	c.65145A>C	NM_133378.4	NP_596869.4:p.(Lys21715Asn)	NC_000002.11:g.179438010T>G	VUS	1 lab	bfe60af1e8
22:45182425 ARHGAP8 T>A	22	45182425	45182425	T	A	ARHGAP8	c.18T>A	NM_001017526.2	NP_001017526.1:p.(Pro6=)	NC_000022.10:g.45182425T>A	(Likely) benign	1 lab	bfe6da8bc4
7:14843325 MISSING T>Alt too long to show for this DUP	7	14843325	15564345	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.14843326_15564345dup	VUS	1 lab	bfe7160929
7:94883822 MISSING A>Alt too long to show for this DUP	7	94883822	94972321	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.94883823_94972321dup	VUS	1 lab	bfe7dbefcb
17:62018290 SCN4A A>G	17	62018290	62018290	A	G	SCN4A	c.5352T>C	NM_000334.4	NP_000325.4:p.(Asn1784=)	NC_000017.10:g.62018290A>G	(Likely) benign	1 lab	bfee6054e5
8:19813487 LPL G>C	8	19813487	19813487	G	C	LPL	c.911G>C	NM_000237.3	NP_000228.1:p.(Ser304Thr)	NC_000008.10:g.19813487G>C	VUS	1 lab	bff005ad1f
2:179484941 TTN T>A	2	179484941	179484941	T	A	TTN	c.46304+3A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484941T>A	VUS	1 lab	bff573d998
X:107979021 IRS4 G>T	X	107979021	107979021	G	T	IRS4	c.554C>A	NM_003604.2	NP_003595.1:p.(Ser185Ter)	NC_000023.10:g.107979021G>T	(Likely) pathogenic	1 lab	bff7cf2056
19:11216065 LDLR C>G	19	11216065	11216065	C	G	LDLR	c.483C>G	NM_000527.5	NP_000518.1:p.(Ile161Met)	NC_000019.9:g.11216065C>G	VUS	1 lab	bffbd483f8
10:90984867 LIPA T>C	10	90984867	90984867	T	C	LIPA	c.657A>G	NM_000235.4	NP_000226.2:p.(Leu219=)	NC_000010.10:g.90984867T>C	(Likely) benign	1 lab	bfff3612be
5:126732333 MEGF10 G>A	5	126732333	126732333	G	A	MEGF10	c.522G>A	NM_032446.3	NP_115822.1:p.(Arg174=)	NC_000005.9:g.126732333G>A	(Likely) benign	1 lab	c00173b882
1:227136588 MISSING G>Alt too long to show for this DUP	1	227136588	227223199	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.227136590_227223199dup	VUS	1 lab	c003cbc667
2:189857531 COL3A1 T>C	2	189857531	189857531	T	C	COL3A1	c.997-82T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189857531T>C	(Likely) benign	1 lab	c004292346
11:65321390 LTBP3 G>A	11	65321390	65321390	G	A	LTBP3	c.662-16C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65321390G>A	(Likely) benign	1 lab	c005462565
7:81964578 CACNA2D1 G>GAA	7	81964578	81964588	G	GAA	CACNA2D1	c.178-13_178-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81964587_81964588dup	(Likely) benign	1 lab	c005980319
19:40909744 PRX T>C	19	40909744	40909744	T	C	PRX	c.53A>G	NM_020956.2	NP_066007.1:p.(Glu18Gly)	NC_000019.9:g.40909744T>C	(Likely) benign	1 lab	c00e57e207
2:179407306 TTN A>C	2	179407306	179407306	A	C	TTN	c.89489-16T>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179407306A>C	(Likely) benign	1 lab	c0169230d1
9:107564393 ABCA1 G>A	9	107564393	107564393	G	A	ABCA1	c.4640C>T	NM_005502.4	NP_005493.2:p.(Pro1547Leu)	NC_000009.11:g.107564393G>A	VUS	1 lab	c01b7470d6
2:44050052 ABCG5 G>A	2	44050052	44050052	G	A	ABCG5	c.1347C>T	NM_022436.3	NP_071881.1:p.(Ser449=)	NC_000002.11:g.44050052G>A	(Likely) benign	1 lab	c01ec420be
19:1495381 REEP6 T>C	19	1495381	1495381	T	C	REEP6	c.204T>C	NM_138393.4	NP_612402.1:p.(Tyr68=)	NC_000019.9:g.1495381T>C	(Likely) benign	1 lab	c01ef0d231
1:202573766 SYT2 G>T	1	202573766	202573766	G	T	SYT2	c.179-17C>A	NM_001136504.1	NP_001129976.1:p.?	NC_000001.10:g.202573766G>T	(Likely) benign	1 lab	c020d330eb
10:12129738 DHTKD1 C>T	10	12129738	12129738	C	T	DHTKD1	c.717+10C>T	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12129738C>T	(Likely) benign	1 lab	c023591e0e
2:21232290 APOB G>A	2	21232290	21232290	G	A	APOB	c.7450C>T	NM_000384.3	NP_000375.3:p.(Leu2484=)	NC_000002.11:g.21232290G>A	(Likely) benign	1 lab	c025ae4120
17:46023694 PNPO G>A	17	46023694	46023694	G	A	PNPO	c.552G>A	NM_018129.4	NP_060599.1:p.(Leu184=)	NC_000017.10:g.46023694G>A	(Likely) benign	1 lab	c0285f3ea1
2:44052070 ABCG5 C>G	2	44052070	44052070	C	G	ABCG5	c.862G>C	NM_022436.3	NP_071881.1:p.(Gly288Arg)	NC_000002.11:g.44052070C>G	VUS	1 lab	c02fa0083d
8:42868483 HOOK3 G>A	8	42868483	42868483	G	A	HOOK3	c.1956G>A	NM_032410.4	NP_115786.1:p.(Glu652=)	NC_000008.10:g.42868483G>A	(Likely) benign	1 lab	c0315b76d6
17:45229240 CDC27 T>C	17	45229240	45229240	T	C	CDC27	c.1020A>G	NM_001114091.4	NP_001107563.1:p.(Ser340=)	NC_000017.10:g.45229240T>C	(Likely) benign	1 lab	c0324368c7
9:107558576 ABCA1 CAG>C	9	107558576	107558580	CAG	C	ABCA1	c.5237+12_5237+13del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558579_107558580del	(Likely) benign	1 lab	c03a596863
16:2049660 ZNF598 G>A	16	2049660	2049660	G	A	ZNF598	c.1890C>T	NM_178167.4	NP_835461.2:p.(Ala630=)	NC_000016.9:g.2049660G>A	(Likely) benign	1 lab	c03d34eded
15:73660310 HCN4 G>A	15	73660310	73660310	G	A	HCN4	c.302C>T	NM_005477.3	NP_005468.1:p.(Ala101Val)	NC_000015.9:g.73660310G>A	VUS	1 lab	c041543ac2
7:82997043 SEMA3E G>A	7	82997043	82997043	G	A	SEMA3E	c.2187C>T	NM_012431.3	NP_036563.1:p.(Cys729=)	NC_000007.13:g.82997043G>A	(Likely) benign	1 lab	c0418fa019
12:76740808 BBS10 A>G	12	76740808	76740808	A	G	BBS10	c.957T>C	NM_024685.4	NP_078961.3:p.(Val319=)	NC_000012.11:g.76740808A>G	(Likely) benign	1 lab	c04191e653
5:1258784 TERT C>A	5	1258784	1258784	C	A	TERT	c.2971-10G>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1258784C>A	(Likely) benign	1 lab	c04475a528
9:107591179 ABCA1 C>T	9	107591179	107591179	C	T	ABCA1	c.2115+18G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591179C>T	(Likely) benign	1 lab	c04ee5b2b9
1:33245099 YARS1 G>A	1	33245099	33245099	G	A	YARS1	c.1360C>T	NM_003680.4	NP_003671.1:p.(Pro454Ser)	NC_000001.10:g.33245099G>A	VUS	1 lab	c05095c970
6:123599667 TRDN C>G	6	123599667	123599667	C	G	TRDN	c.1538-175G>C	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123599667C>G	(Likely) benign	1 lab	c05394fe61
1:3301811 PRDM16 C>T	1	3301811	3301811	C	T	PRDM16	c.534C>T	NM_022114.4	NP_071397.3:p.(Cys178=)	NC_000001.10:g.3301811C>T	(Likely) benign	1 lab	c05a901d9c
X:41708921 CASK T>Alt too long to show for this DUP	X	41708921	41717382	T	Alt too long to show for this DUP	CASK	c.60-4902_172+3446dup	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41708922_41717382dup	VUS	1 lab	c065501e16
19:11221444 LDLR G>A	19	11221444	11221444	G	A	LDLR	c.1057G>A	NM_000527.5	NP_000518.1:p.(Glu353Lys)	NC_000019.9:g.11221444G>A	VUS	1 lab	c065d5802b
3:123419538 MYLK C>T	3	123419538	123419538	C	T	MYLK	c.2777G>A	NM_053025.4	NP_444253.3:p.(Arg926His)	NC_000003.11:g.123419538C>T	VUS	1 lab	c068917dab
1:12008091 PLOD1 G>A	1	12008091	12008091	G	A	PLOD1	c.135G>A	NM_000302.4	NP_000293.2:p.(Lys45=)	NC_000001.10:g.12008091G>A	(Likely) benign	1 lab	c06a0c3448
19:11221407 LDLR C>G	19	11221407	11221407	C	G	LDLR	c.1020C>G	NM_000527.5	NP_000518.1:p.(Cys340Trp)	NC_000019.9:g.11221407C>G	(Likely) pathogenic	1 lab	c06a0f7650
16:960659 LMF1 CCT>C	16	960659	960665	CCT	C	LMF1	c.264+270_264+271del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.960664_960665del	(Likely) benign	1 lab	c06bf9c630
18:18776724 MISSING T>Alt too long to show for this DUP	18	18776724	18867264	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.18776726_18867264dup	VUS	1 lab	c06c9ab864
19:11217333 LDLR G>C	19	11217333	11217333	G	C	LDLR	c.787G>C	NM_000527.5	NP_000518.1:p.(Asp263His)	NC_000019.9:g.11217333G>C	VUS	1 lab	c06e053dd1
3:38671762 SCN5A C>G	3	38671762	38671762	C	G	SCN5A	c.392+40G>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38671762C>G	(Likely) benign	1 lab	c06fa24fc1
17:48268338 COL1A1 A>G	17	48268338	48268338	A	G	COL1A1	c.2236-53T>C	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48268338A>G	(Likely) benign	1 lab	c070ad9d9c
11:65320987 LTBP3 G>A	11	65320987	65320987	G	A	LTBP3	c.879C>T	NM_001130144.3	NP_001123616.1:p.(Pro293=)	NC_000011.9:g.65320987G>A	(Likely) benign	1 lab	c0738ea8c9
19:40901073 PRX C>A	19	40901073	40901073	C	A	PRX	c.3186G>T	NM_181882.3	NP_870998.2:p.(Lys1062Asn)	NC_000019.9:g.40901073C>A	VUS	1 lab	c07631d164
12:5154369 KCNA5 C>A	12	5154369	5154369	C	A	KCNA5	c.1056C>A	NM_002234.4	NP_002225.2:p.(Phe352Leu)	NC_000012.11:g.5154369C>A	VUS	1 lab	c076ed5cef
6:95834022 MISSING Ref too long to show for this DEL>C	6	95834022	96212995	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.95834024_96212995del	VUS	1 lab	c07b3a5fd9
1:150297334 PRPF3 CTT>C	1	150297334	150297350	CTT	C	PRPF3	c.-48-4_-48-3del	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297349_150297350del	(Likely) benign	1 lab	c07b5f5a83
11:66335094 CTSF C>T	11	66335094	66335094	C	T	CTSF	c.352G>A	NM_003793.4	NP_003784.2:p.(Val118Met)	NC_000011.9:g.66335094C>T	(Likely) benign	1 lab	c07c1aa69d
3:86082437 MISSING A>Alt too long to show for this DUP	3	86082437	86135800	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.86082442_86135800dup	VUS	1 lab	c07ca2d1c1
3:180334142 CCDC39 C>A	3	180334142	180334142	C	A	CCDC39	c.2596G>T	NM_181426.2	NP_852091.1:p.(Glu866Ter)	NC_000003.11:g.180334142C>A	(Likely) pathogenic	1 lab	c081bc50b1
2:1481315 TPO C>T	2	1481315	1481315	C	T	TPO	c.1277C>T	NM_000547.6	NP_000538.3:p.(Ala426Val)	NC_000002.11:g.1481315C>T	VUS	1 lab	c095b2287e
2:219679383 CYP27A1 T>G	2	219679383	219679383	T	G	CYP27A1	c.1379T>G	NM_000784.4	NP_000775.1:p.(Ile460Ser)	NC_000002.11:g.219679383T>G	VUS	1 lab	c09785cd0b
16:88792732 PIEZO1 C>T	16	88792732	88792732	C	T	PIEZO1	c.3928G>A	NM_001142864.4	NP_001136336.2:p.(Val1310Ile)	NC_000016.9:g.88792732C>T	(Likely) benign	1 lab	c0991e4f04
2:179446406 TTN G>C	2	179446406	179446406	G	C	TTN	c.66589C>G	NM_001267550.2	NP_001254479.2:p.(Arg22197Gly)	NC_000002.11:g.179446406G>C	VUS	1 lab	c09ea1d74f
7:151292466 PRKAG2 T>A	7	151292466	151292466	T	A	PRKAG2	c.829A>T	NM_016203.4	NP_057287.2:p.(Ser277Cys)	NC_000007.13:g.151292466T>A	VUS	1 lab	c0a23151e0
7:150648881 KCNH2 G>A	7	150648881	150648881	G	A	KCNH2	c.1600C>T	NM_000238.4	NP_000229.1:p.(Arg534Cys)	NC_000007.13:g.150648881G>A	(Likely) pathogenic	1 lab	c0a53eeda3
17:7911301 GUCY2D G>A	17	7911301	7911301	G	A	GUCY2D	c.1619G>A	NM_000180.4	NP_000171.1:p.(Arg540His)	NC_000017.10:g.7911301G>A	VUS	1 lab	c0a8fd00fb
19:35758520 LSR G>A	19	35758520	35758520	G	A	LSR	c.1653G>A	NM_205834.4	NP_991403.2:p.(Gly551=)	NC_000019.9:g.35758520G>A	(Likely) benign	1 lab	c0a9e65ddb
13:20657115 ZMYM2 GA>G	13	20657115	20657119	GA	G	ZMYM2	c.3767del	NM_001353162.3	NP_001340091.1:p.(Asn1256ThrfsTer49)	NC_000013.10:g.20657119del	(Likely) pathogenic	1 lab	c0ac33702a
11:40315947 LRRC4C A>Alt too long to show for this DUP	11	40315947	40361763	A	Alt too long to show for this DUP	LRRC4C	c.-269-20487_-176+25230dup	NM_001258419.2	NP_001245348.1:p.?	NC_000011.9:g.40315953_40361763dup	VUS	1 lab	c0ac728c19
7:100853972 PLOD3 G>A	7	100853972	100853972	G	A	PLOD3	c.1359-18C>T	NM_001084.5	NP_001075.1:p.?	NC_000007.13:g.100853972G>A	(Likely) benign	1 lab	c0ad431921
12:122265868 SETD1B T>C	12	122265868	122265868	T	C	SETD1B	c.5619T>C	NM_001353345.2	NP_001340274.1:p.(Tyr1873=)	NC_000012.11:g.122265868T>C	(Likely) benign	1 lab	c0b418be40
7:75933284 HSPB1 C>T	7	75933284	75933284	C	T	HSPB1	c.429-17C>T	NM_001540.5	NP_001531.1:p.?	NC_000007.13:g.75933284C>T	(Likely) benign	1 lab	c0c2e8afc8
9:101907052 TGFBR1 A>G	9	101907052	101907052	A	G	TGFBR1	c.1012A>G	NM_004612.4	NP_004603.1:p.(Asn338Asp)	NC_000009.11:g.101907052A>G	(Likely) pathogenic	1 lab	c0c6c2c111
12:59267949 LRIG3 A>G	12	59267949	59267949	A	G	LRIG3	c.3003T>C	NM_153377.5	NP_700356.2:p.(Ser1001=)	NC_000012.11:g.59267949A>G	(Likely) benign	1 lab	c0cb44ceb5
3:37695192 ITGA9 G>A	3	37695192	37695192	G	A	ITGA9	c.1840-13G>A	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37695192G>A	(Likely) benign	1 lab	c0cc0a4293
2:179629521 TTN C>G	2	179629521	179629521	C	G	TTN	c.9721G>C	NM_001267550.2	NP_001254479.2:p.(Val3241Leu)	NC_000002.11:g.179629521C>G	VUS	1 lab	c0cd56e284
6:75801066 COL12A1 T>G	6	75801066	75801066	T	G	COL12A1	c.8725A>C	NM_004370.6	NP_004361.3:p.(Arg2909=)	NC_000006.11:g.75801066T>G	(Likely) benign	1 lab	c0ceeb6a4c
12:21918641 KCNJ8 T>C	12	21918641	21918641	T	C	KCNJ8	c.*16A>G	NM_004982.4	NP_004973.1:p.?	NC_000012.11:g.21918641T>C	(Likely) benign	1 lab	c0d80d2cab
2:15514860 NBAS TA>T	2	15514860	15514863	TA	T	NBAS	c.3591-17del	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15514863del	(Likely) benign	1 lab	c0d865b4dd
6:32497972 HLA-DRB5 G>A	6	32497972	32497972	G	A	HLA-DRB5	c.30C>T	NM_002125.4	NP_002116.2:p.(Ser10=)	NC_000006.11:g.32497972G>A	(Likely) benign	1 lab	c0d8d9044f
15:42702836 CAPN3 C>T	15	42702836	42702836	C	T	CAPN3	c.2235C>T	NM_000070.3	NP_000061.1:p.(Tyr745=)	NC_000015.9:g.42702836C>T	(Likely) benign	1 lab	c0ddad8c61
12:1909545 CACNA2D4 C>G	12	1909545	1909545	C	G	CACNA2D4	c.2921+7G>C	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1909545C>G	(Likely) benign	1 lab	c0de6bae81
2:179459265 TTN T>C	2	179459265	179459265	T	C	TTN	c.50252A>G	NM_133378.4	NP_596869.4:p.(Tyr16751Cys)	NC_000002.11:g.179459265T>C	VUS	1 lab	c0e3fbbe33
22:25623875 CRYBB2 G>A	22	25623875	25623875	G	A	CRYBB2	c.229G>A	NM_000496.3	NP_000487.1:p.(Gly77Ser)	NC_000022.10:g.25623875G>A	VUS	1 lab	c0e5a0c9ba
9:137592844 COL5A1 C>T	9	137592844	137592844	C	T	COL5A1	c.492-173C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137592844C>T	(Likely) benign	1 lab	c0e8d83b41
8:176450 MISSING Ref too long to show for this DEL>G	8	176450	6942337	Ref too long to show for this DEL	G	MISSING				NC_000008.10:g.176452_6942337del	(Likely) pathogenic	1 lab	c0ec89f121
14:78021754 SPTLC2 T>A	14	78021754	78021754	T	A	SPTLC2	c.1065A>T	NM_004863.4	NP_004854.1:p.(Thr355=)	NC_000014.8:g.78021754T>A	(Likely) benign	1 lab	c0ef472dc7
8:31001049 WRN T>C	8	31001049	31001049	T	C	WRN	c.3310-17T>C	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.31001049T>C	(Likely) benign	1 lab	c0f0976063
11:22684486 MISSING Ref too long to show for this DEL>T	11	22684486	22710970	Ref too long to show for this DEL	T	MISSING				NC_000011.9:g.22684488_22710970del	VUS	1 lab	c0f80f1431
19:11221479 LDLR C>T	19	11221479	11221479	C	T	LDLR	c.1060+32C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221479C>T	(Likely) benign	1 lab	c0fc5f797b
15:45019031 MISSING Ref too long to show for this DEL>C	15	45019031	45043915	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.45019036_45043915del	VUS	1 lab	c1011af7e4
2:220493149 SLC4A3 C>G	2	220493149	220493149	C	G	SLC4A3	c.74C>G	NM_001326559.2	NP_001313488.2:p.(Pro25Arg)	NC_000002.11:g.220493149C>G	VUS	1 lab	c1046de492
18:19379939 MIB1 A>C	18	19379939	19379939	A	C	MIB1	c.1371+4A>C	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19379939A>C	VUS	1 lab	c105121c9d
X:153197496 MISSING C>Alt too long to show for this DUP	X	153197496	153409354	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153197498_153409354dup	(Likely) pathogenic	1 lab	c10823f548
1:13413996 MISSING G>T	1	13413996	13413996	G	T	MISSING				NC_000001.10:g.13413996G>T	(Likely) benign	1 lab	c10a864c6a
19:11227814 LDLR CT>C	19	11227814	11227831	CT	C	LDLR	c.1845+157del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11227831del	(Likely) benign	1 lab	c10bfaff80
9:17400058 CNTLN Ref too long to show for this DEL>T	9	17400058	17432531	Ref too long to show for this DEL	T	CNTLN	c.2615+4992_3114+16344del	NM_017738.4	NP_060208.2:p.?	NC_000009.11:g.17400059_17432531del	VUS	1 lab	c116a4f02c
1:35250840 GJB3 G>A	1	35250840	35250840	G	A	GJB3	c.477G>A	NM_024009.3	NP_076872.1:p.(Pro159=)	NC_000001.10:g.35250840G>A	(Likely) benign	1 lab	c1187d53a6
5:131927550 RAD50 AT>A	5	131927550	131927560	AT	A	RAD50	c.1636-9del	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131927560del	(Likely) benign	1 lab	c1215441db
8:19819645 LPL G>A	8	19819645	19819645	G	A	LPL	c.1342G>A	NM_000237.3	NP_000228.1:p.(Glu448Lys)	NC_000008.10:g.19819645G>A	VUS	1 lab	c124583c27
16:920876 LMF1 A>C	16	920876	920876	A	C	LMF1	c.1085T>G	NM_022773.4	NP_073610.2:p.(Val362Gly)	NC_000016.9:g.920876A>C	(Likely) benign	1 lab	c1281de19b
12:57430099 MYO1A T>C	12	57430099	57430099	T	C	MYO1A	c.2341A>G	NM_001256041.2	NP_001242970.1:p.(Lys781Glu)	NC_000012.11:g.57430099T>C	(Likely) benign	1 lab	c1283b3248
17:78086798 GAA T>C	17	78086798	78086798	T	C	GAA	c.2012T>C	NM_000152.5	NP_000143.2:p.(Met671Thr)	NC_000017.10:g.78086798T>C	(Likely) pathogenic	1 lab	c12a4027d9
1:156085014 LMNA T>G	1	156085014	156085014	T	G	LMNA	c.305T>G	NM_170707.4	NP_733821.1:p.(Leu102Arg)	NC_000001.10:g.156085014T>G	VUS	1 lab	c12de2bb63
16:89349783 ANKRD11 A>C	16	89349783	89349783	A	C	ANKRD11	c.3167T>G	NM_001256182.2	NP_001243111.1:p.(Phe1056Cys)	NC_000016.9:g.89349783A>C	VUS	1 lab	c12e76bf8b
18:10763007 PIEZO2 T>C	18	10763007	10763007	T	C	PIEZO2	c.2961A>G	NM_022068.4	NP_071351.2:p.(Thr987=)	NC_000018.9:g.10763007T>C	(Likely) benign	1 lab	c132048ad6
15:85402632 ALPK3 G>A	15	85402632	85402632	G	A	ALPK3	c.3965+11G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85402632G>A	(Likely) benign	1 lab	c13622db7f
6:65612371 EYS T>G	6	65612371	65612371	T	G	EYS	c.2664A>C	NM_001292009.2	NP_001278938.1:p.(Glu888Asp)	NC_000006.11:g.65612371T>G	VUS	1 lab	c1398d6aa6
2:44051551 ABCG5 T>C	2	44051551	44051551	T	C	ABCG5	c.925A>G	NM_022436.3	NP_071881.1:p.(Thr309Ala)	NC_000002.11:g.44051551T>C	VUS	1 lab	c13d85c8f1
3:123420083 MYLK G>T	3	123420083	123420083	G	T	MYLK	c.2462+202C>A	NM_053025.4	NP_444253.3:p.?	NC_000003.11:g.123420083G>T	(Likely) benign	1 lab	c13fd784e3
1:75009674 TNNI3K C>T	1	75009674	75009674	C	T	TNNI3K	c.*8C>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.75009674C>T	(Likely) benign	1 lab	c144198407
15:32686927 GOLGA8K C>A	15	32686927	32686927	C	A	GOLGA8K	c.1215G>T	NM_001282493.1	NP_001269422.1:p.(Ala405=)	NC_000015.9:g.32686927C>A	(Likely) benign	1 lab	c1470a0dab
7:110432461 IMMP2L Ref too long to show for this DEL>C	7	110432461	110647682	Ref too long to show for this DEL	C	IMMP2L	c.240-44061_408+94187del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110432462_110647682del	VUS	1 lab	c148bbc0b1
X:32503172 DMD T>A	X	32503172	32503172	T	A	DMD	c.2667A>T	NM_004006.3	NP_003997.2:p.(Arg889=)	NC_000023.10:g.32503172T>A	(Likely) benign	1 lab	c155b99079
X:51488207 GSPT2 G>T	X	51488207	51488207	G	T	GSPT2	c.1485G>T	NM_018094.5	NP_060564.2:p.(Leu495=)	NC_000023.10:g.51488207G>T	(Likely) benign	1 lab	c1585f39ab
1:12061462 MFN2 G>A	1	12061462	12061462	G	A	MFN2	c.821G>A	NM_014874.4	NP_055689.1:p.(Arg274Gln)	NC_000001.10:g.12061462G>A	(Likely) pathogenic	1 lab	c15f241852
18:47110161 LIPG CCTT>C	18	47110161	47110169	CCTT	C	LIPG	c.1376+23_1376+25del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47110167_47110169del	(Likely) benign	1 lab	c1613a217d
1:51016114 FAF1 Ref too long to show for this DEL>A	1	51016114	51290291	Ref too long to show for this DEL	A	FAF1	c.115-22941_1269-10715del	NM_007051.3	NP_008982.1:p.?	NC_000001.10:g.51016116_51290291del	VUS	1 lab	c16298bbc5
4:55127461 PDGFRA G>A	4	55127461	55127461	G	A	PDGFRA	c.249G>A	NM_006206.6	NP_006197.1:p.(Thr83=)	NC_000004.11:g.55127461G>A	(Likely) benign	1 lab	c164b2e066
7:128480721 FLNC C>T	7	128480721	128480721	C	T	FLNC	c.1669C>T	NM_001458.5	NP_001449.3:p.(Pro557Ser)	NC_000007.13:g.128480721C>T	VUS	1 lab	c1652b0652
3:184041971 EIF4G1 A>G	3	184041971	184041971	A	G	EIF4G1	c.2476-18A>G	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184041971A>G	(Likely) benign	1 lab	c16665e780
10:48390391 RBP3 A>G	10	48390391	48390391	A	G	RBP3	c.487T>C	NM_002900.3	NP_002891.1:p.(Ser163Pro)	NC_000010.10:g.48390391A>G	(Likely) benign	1 lab	c16deaf7b4
6:32065863 TNXB CG>C	6	32065863	32065869	CG	C	TNXB	c.112del	NM_019105.8	NP_061978.6:p.(Arg38GlyfsTer66)	NC_000006.11:g.32065869del	(Likely) pathogenic	1 lab	c16e09570c
2:179569098 TTN A>G	2	179569098	179569098	A	G	TTN	c.29999T>C	NM_001267550.2	NP_001254479.2:p.(Leu10000Pro)	NC_000002.11:g.179569098A>G	VUS	1 lab	c16e6287ba
13:19436286 MISSING Ref too long to show for this DEL>C	13	19436286	22826880	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.19436287_22826880del	(Likely) pathogenic	1 lab	c172bd5d7a
16:904645 LMF1 C>T	16	904645	904645	C	T	LMF1	c.1192G>A	NM_001352018.2	NP_001338947.1:p.(Glu398Lys)	NC_000016.9:g.904645C>T	VUS	1 lab	c175b0b39d
2:179544980 TTN C>T	2	179544980	179544980	C	T	TTN	c.33418+1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179544980C>T	VUS	1 lab	c1775037eb
21:47422644 COL6A1 G>A	21	47422644	47422644	G	A	COL6A1	c.2434+20G>A	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47422644G>A	(Likely) benign	1 lab	c177daea48
1:64062214 MISSING Ref too long to show for this DEL>C	1	64062214	65457021	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.64062215_65457021del	VUS	1 lab	c1797d4d57
10:75860834 VCL G>A	10	75860834	75860834	G	A	VCL	c.2001G>A	NM_014000.3	NP_054706.1:p.(Thr667=)	NC_000010.10:g.75860834G>A	(Likely) benign	1 lab	c17b944cb3
16:28884880 SH2B1 A>G	16	28884880	28884880	A	G	SH2B1	c.2010A>G	NM_001308293.2	NP_001295222.1:p.(Ala670=)	NC_000016.9:g.28884880A>G	(Likely) benign	1 lab	c17f78ca42
1:55527133 PCSK9 G>T	1	55527133	55527133	G	T	PCSK9	c.1767G>T	NM_174936.4	NP_777596.2:p.(Val589=)	NC_000001.10:g.55527133G>T	(Likely) benign	1 lab	c18023030d
11:18309251 HPS5 C>G	11	18309251	18309251	C	G	HPS5	c.2562-14G>C	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18309251C>G	(Likely) benign	1 lab	c183972765
7:81635170 CACNA2D1 CA>C	7	81635170	81635176	CA	C	CACNA2D1	c.1441-16del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81635176del	(Likely) benign	1 lab	c187835481
1:120825580 MISSING Ref too long to show for this DEL>A	1	120825580	120858833	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.120825581_120858833del	VUS	1 lab	c18d60e9b0
3:193375003 OPA1 C>G	3	193375003	193375003	C	G	OPA1	c.2313C>G	NM_130837.3	NP_570850.2:p.(Asp771Glu)	NC_000003.11:g.193375003C>G	(Likely) benign	1 lab	c18f758c59
6:100895294 SIM1 G>A	6	100895294	100895294	G	A	SIM1	c.851-3C>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100895294G>A	(Likely) benign	1 lab	c193f01b25
13:115089762 CHAMP1 ACTC>A	13	115089762	115089768	ACTC	A	CHAMP1	c.449_451del	NM_032436.4	NP_115812.1:p.(Pro150del)	NC_000013.10:g.115089766_115089768del	(Likely) benign	1 lab	c195a9c251
2:179407811 TTN C>T	2	179407811	179407811	C	T	TTN	c.96889G>A	NM_001267550.2	NP_001254479.2:p.(Val32297Ile)	NC_000002.11:g.179407811C>T	VUS	1 lab	c196b83c50
2:179498725 TTN A>T	2	179498725	179498725	A	T	TTN	c.42501T>A	NM_001267550.2	NP_001254479.2:p.(His14167Gln)	NC_000002.11:g.179498725A>T	VUS	1 lab	c19d8fb402
4:100485372 MTTP C>G	4	100485372	100485372	C	G	MTTP	c.-211C>G	NM_001300785.2	NP_001287714.2:p.?	NC_000004.11:g.100485372C>G	VUS	1 lab	c19dacaf82
6:170359005 MISSING Ref too long to show for this DEL>C	6	170359005	170919482	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.170359006_170919482del	(Likely) pathogenic	1 lab	c19ec39f36
20:10621875 JAG1 G>A	20	10621875	10621875	G	A	JAG1	c.2934C>T	NM_000214.3	NP_000205.1:p.(His978=)	NC_000020.10:g.10621875G>A	(Likely) benign	1 lab	c1a2fbe5a0
12:124285870 DNAH10 G>T	12	124285870	124285870	G	T	DNAH10	c.2151G>T	NM_207437.3	NP_997320.2:p.(Met717Ile)	NC_000012.11:g.124285870G>T	(Likely) benign	1 lab	c1a441b4c4
4:100521705 MTTP T>C	4	100521705	100521705	T	C	MTTP	c.1068-17T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100521705T>C	(Likely) benign	1 lab	c1a462b133
16:67974231 LCAT C>T	16	67974231	67974231	C	T	LCAT	c.899G>A	NM_000229.2	NP_000220.1:p.(Arg300His)	NC_000016.9:g.67974231C>T	(Likely) benign	1 lab	c1a52bb4cc
6:157502255 ARID1B G>T	6	157502255	157502255	G	T	ARID1B	c.1158G>T	NM_001363725.2	NP_001350654.1:p.(Lys386Asn)	NC_000006.11:g.157502255G>T	VUS	1 lab	c1a585fc82
1:17707788 MISSING Ref too long to show for this DEL>G	1	17707788	20719132	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.17707789_20719132del	(Likely) pathogenic	1 lab	c1ac5ff6e0
3:196230035 MISSING Ref too long to show for this DEL>G	3	196230035	196263123	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.196230036_196263123del	VUS	1 lab	c1ac770289
1:9083081 SLC2A7 G>A	1	9083081	9083081	G	A	SLC2A7	c.207C>T	NM_207420.3	NP_997303.2:p.(Asp69=)	NC_000001.10:g.9083081G>A	(Likely) benign	1 lab	c1acb391ba
3:97506849 ARL6 G>A	3	97506849	97506849	G	A	ARL6	c.365G>A	NM_032146.5	NP_115522.1:p.(Arg122Gln)	NC_000003.11:g.97506849G>A	(Likely) benign	1 lab	c1b494efea
2:44102517 ABCG8 G>A	2	44102517	44102517	G	A	ABCG8	c.1721G>A	NM_022437.3	NP_071882.1:p.(Gly574Glu)	NC_000002.11:g.44102517G>A	(Likely) pathogenic	1 lab	c1b6bd3eb3
18:25570123 CDH2 G>A	18	25570123	25570123	G	A	CDH2	c.1536C>T	NM_001792.5	NP_001783.2:p.(Ala512=)	NC_000018.9:g.25570123G>A	(Likely) benign	1 lab	c1c2fb6292
2:179440902 TTN G>C	2	179440902	179440902	G	C	TTN	c.62253C>G	NM_133378.4	NP_596869.4:p.(Ile20751Met)	NC_000002.11:g.179440902G>C	VUS	1 lab	c1c3f3125b
17:7906941 GUCY2D C>A	17	7906941	7906941	C	A	GUCY2D	c.576C>A	NM_000180.4	NP_000171.1:p.(Asp192Glu)	NC_000017.10:g.7906941C>A	VUS	1 lab	c1cd0f85a8
4:100534097 MTTP G>A	4	100534097	100534097	G	A	MTTP	c.2017G>A	NM_000253.4	NP_000244.2:p.(Ala673Thr)	NC_000004.11:g.100534097G>A	VUS	1 lab	c1cd3d65cd
9:79820214 VPS13A C>T	9	79820214	79820214	C	T	VPS13A	c.188-15C>T	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79820214C>T	(Likely) benign	1 lab	c1d00ec02f
5:127640795 FBN2 T>C	5	127640795	127640795	T	C	FBN2	c.5675-21A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127640795T>C	(Likely) benign	1 lab	c1d6609fa8
2:86479079 REEP1 C>A	2	86479079	86479079	C	A	REEP1	c.417+1G>T	NM_022912.3	NP_075063.1:p.?	NC_000002.11:g.86479079C>A	(Likely) pathogenic	1 lab	c1dda35692
22:51066097 ARSA G>C	22	51066097	51066097	G	C	ARSA	c.111C>G	NM_000487.6	NP_000478.3:p.(Asp37Glu)	NC_000022.10:g.51066097G>C	VUS	1 lab	c1def8589c
6:16144920 MYLIP C>T	6	16144920	16144920	C	T	MYLIP	c.828-208C>T	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16144920C>T	(Likely) benign	1 lab	c1df3065d2
11:2606442 KCNQ1 G>C	11	2606442	2606442	G	C	KCNQ1	c.1033G>C	NM_000218.3	NP_000209.2:p.(Gly345Arg)	NC_000011.9:g.2606442G>C	(Likely) pathogenic	1 lab	c1e434d93b
X:49070676 CACNA1F G>A	X	49070676	49070676	G	A	CACNA1F	c.3684C>T	NM_005183.4	NP_005174.2:p.(Val1228=)	NC_000023.10:g.49070676G>A	(Likely) benign	1 lab	c1e784d5bb
9:107666345 ABCA1 C>T	9	107666345	107666345	C	T	ABCA1	c.-92-293G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107666345C>T	(Likely) benign	1 lab	c1e812b93a
6:16129646 MYLIP G>A	6	16129646	16129646	G	A	MYLIP	c.87+6G>A	NM_013262.4	NP_037394.2:p.?	NC_000006.11:g.16129646G>A	(Likely) benign	1 lab	c1ef24b2ab
2:220075795 ABCB6 A>G	2	220075795	220075795	A	G	ABCB6	c.2004T>C	NM_005689.4	NP_005680.1:p.(Val668=)	NC_000002.11:g.220075795A>G	(Likely) benign	1 lab	c1f232b142
2:179481585 TTN T>G	2	179481585	179481585	T	G	TTN	c.48031A>C	NM_001267550.2	NP_001254479.2:p.(Met16011Leu)	NC_000002.11:g.179481585T>G	VUS	1 lab	c1f2485087
1:19566492 EMC1 A>G	1	19566492	19566492	A	G	EMC1	c.787-13T>C	NM_001375820.1	NP_001362749.1:p.?	NC_000001.10:g.19566492A>G	(Likely) benign	1 lab	c1f7504171
2:21230273 APOB G>T	2	21230273	21230273	G	T	APOB	c.9467C>A	NM_000384.3	NP_000375.3:p.(Thr3156Lys)	NC_000002.11:g.21230273G>T	VUS	1 lab	c1f864c65b
12:13768112 GRIN2B T>C	12	13768112	13768112	T	C	GRIN2B	c.1590A>G	NM_000834.5	NP_000825.2:p.(Ile530Met)	NC_000012.11:g.13768112T>C	VUS	1 lab	c1f913665f
7:77169399 PTPN12 T>Alt too long to show for this DUP	7	77169399	77187852	T	Alt too long to show for this DUP	PTPN12	c.99+2438_100-12543dup	NM_002835.4	NP_002826.3:p.?	NC_000007.13:g.77169400_77187852dup	VUS	1 lab	c1fcdc3a4e
2:73850694 MISSING Ref too long to show for this DEL>T	2	73850694	73934153	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.73850695_73934153del	VUS	1 lab	c1feda71d2
16:15839446 MYH11 T>C	16	15839446	15839446	T	C	MYH11	c.2433-352A>G	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15839446T>C	(Likely) benign	1 lab	c20206ffa9
3:38617069 SCN5A G>A	3	38617069	38617069	G	A	SCN5A	c.3512-127C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38617069G>A	(Likely) benign	1 lab	c2030f631e
2:189855380 COL3A1 T>C	2	189855380	189855380	T	C	COL3A1	c.798+294T>C	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189855380T>C	(Likely) benign	1 lab	c2043337f8
2:21225051 APOB AC>A	2	21225051	21225052	AC	A	APOB	c.13242del	NM_000384.3	NP_000375.3:p.(Leu4415Ter)	NC_000002.11:g.21225052del	(Likely) pathogenic	1 lab	c20db33bd9
2:179473407 TTN C>T	2	179473407	179473407	C	T	TTN	c.52331G>A	NM_001267550.2	NP_001254479.2:p.(Arg17444His)	NC_000002.11:g.179473407C>T	(Likely) benign	1 lab	c20e6c206c
15:85382309 ALPK3 C>T	15	85382309	85382309	C	T	ALPK3	c.403C>T	NM_020778.5	NP_065829.4:p.(His135Tyr)	NC_000015.9:g.85382309C>T	VUS	1 lab	c20f773506
18:34092519 FHOD3 T>G	18	34092519	34092519	T	G	FHOD3	c.511+13T>G	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34092519T>G	(Likely) benign	1 lab	c2111c8244
3:38591891 SCN5A C>T	3	38591891	38591891	C	T	SCN5A	c.5972G>A	NM_198056.3	NP_932173.1:p.(Arg1991Gln)	NC_000003.11:g.38591891C>T	VUS	1 lab	c21682ac6d
17:78079595 GAA G>T	17	78079595	78079595	G	T	GAA	c.594G>T	NM_000152.5	NP_000143.2:p.(Pro198=)	NC_000017.10:g.78079595G>T	(Likely) benign	1 lab	c218248428
2:47596738 EPCAM G>A	2	47596738	47596738	G	A	EPCAM	c.76+18G>A	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47596738G>A	(Likely) benign	1 lab	c21a27b420
6:97312156 MISSING G>Alt too long to show for this DUP	6	97312156	97508454	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.97312157_97508454dup	VUS	1 lab	c21cc0c16d
2:179641184 TTN C>A	2	179641184	179641184	C	A	TTN	c.5407G>T	NM_001267550.2	NP_001254479.2:p.(Glu1803Ter)	NC_000002.11:g.179641184C>A	(Likely) pathogenic	1 lab	c22021a963
1:236882161 ACTN2 C>G	1	236882161	236882161	C	G	ACTN2	c.242-33C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236882161C>G	(Likely) benign	1 lab	c2202d54bf
3:50232030 GNAT1 G>C	3	50232030	50232030	G	C	GNAT1	c.805G>C	NM_144499.3	NP_653082.1:p.(Val269Leu)	NC_000003.11:g.50232030G>C	VUS	1 lab	c220b3b8d0
17:15151438 PMP22 G>A	17	15151438	15151438	G	A	PMP22	c.179-8510C>T	NM_001281456.2	NP_001268385.1:p.?	NC_000017.10:g.15151438G>A	(Likely) benign	1 lab	c220be621b
3:49662654 BSN C>T	3	49662654	49662654	C	T	BSN	c.471C>T	NM_003458.4	NP_003449.2:p.(Ser157=)	NC_000003.11:g.49662654C>T	(Likely) benign	1 lab	c222ea6eab
6:16129575 MYLIP C>T	6	16129575	16129575	C	T	MYLIP	c.22C>T	NM_013262.4	NP_037394.2:p.(Pro8Ser)	NC_000006.11:g.16129575C>T	(Likely) benign	1 lab	c229773c65
2:179416711 TTN C>T	2	179416711	179416711	C	T	TTN	c.90916G>A	NM_001267550.2	NP_001254479.2:p.(Gly30306Arg)	NC_000002.11:g.179416711C>T	VUS	1 lab	c2298b806c
5:37183329 CPLANE1 G>A	5	37183329	37183329	G	A	CPLANE1	c.4954C>T	NM_023073.4	NP_075561.3:p.(Leu1652=)	NC_000005.9:g.37183329G>A	(Likely) benign	1 lab	c22d059f5c
15:58840581 LIPC C>T	15	58840581	58840581	C	T	LIPC	c.861C>T	NM_000236.3	NP_000227.2:p.(Ile287=)	NC_000015.9:g.58840581C>T	(Likely) benign	1 lab	c232924f7e
6:7581552 DSP C>CA	6	7581552	7581553	C	CA	DSP	c.5130dup	NM_004415.4	NP_004406.2:p.(Glu1711ArgfsTer23)	NC_000006.11:g.7581553dup	(Likely) pathogenic	1 lab	c232df2184
18:34232627 FHOD3 G>A	18	34232627	34232627	G	A	FHOD3	c.1381G>A	NM_001281740.3	NP_001268669.1:p.(Gly461Arg)	NC_000018.9:g.34232627G>A	(Likely) benign	1 lab	c233c227ef
2:27456174 CAD A>G	2	27456174	27456174	A	G	CAD	c.2992-6A>G	NM_004341.5	NP_004332.2:p.?	NC_000002.11:g.27456174A>G	VUS	1 lab	c23671e308
6:42672350 PRPH2 C>G	6	42672350	42672350	C	G	PRPH2	c.582-1G>C	NM_000322.5	NP_000313.2:p.?	NC_000006.11:g.42672350C>G	(Likely) pathogenic	1 lab	c236d89b6e
2:179569437 TTN A>G	2	179569437	179569437	A	G	TTN	c.29762T>C	NM_001267550.2	NP_001254479.2:p.(Ile9921Thr)	NC_000002.11:g.179569437A>G	VUS	1 lab	c24008fdb2
7:136593043 CHRM2 Ref too long to show for this DEL>T	7	136593043	136603607	Ref too long to show for this DEL	T	CHRM2	c.-125+38880_-125+49442del	NM_001006630.2	NP_001006631.1:p.?	NC_000007.13:g.136593045_136603607del	VUS	1 lab	c2417683e9
12:125292370 SCARB1 G>A	12	125292370	125292370	G	A	SCARB1	c.946C>T	NM_001367981.1	NP_001354910.1:p.(Pro316Ser)	NC_000012.11:g.125292370G>A	VUS	1 lab	c2417809c6
14:102028550 DIO3 C>T	14	102028550	102028550	C	T	DIO3	c.717C>T	NM_001362.3	NP_001353.4:p.(Cys239=)	NC_000014.8:g.102028550C>T	(Likely) benign	1 lab	c2437d58a3
8:55538074 RP1 A>G	8	55538074	55538074	A	G	RP1	c.1632A>G	NM_006269.2	NP_006260.1:p.(Ala544=)	NC_000008.10:g.55538074A>G	(Likely) benign	1 lab	c247575a51
5:121406262 LOX T>G	5	121406262	121406262	T	G	LOX	c.1058A>C	NM_002317.7	NP_002308.2:p.(Asp353Ala)	NC_000005.9:g.121406262T>G	(Likely) pathogenic	1 lab	c24d965992
11:299286 IFITM5 C>T	11	299286	299286	C	T	IFITM5	c.186+19G>A	NM_001025295.3	NP_001020466.1:p.?	NC_000011.9:g.299286C>T	(Likely) benign	1 lab	c24f43830e
4:100542286 MTTP G>A	4	100542286	100542286	G	A	MTTP	c.2411G>A	NM_000253.4	NP_000244.2:p.(Ser804Asn)	NC_000004.11:g.100542286G>A	VUS	1 lab	c2513f2215
1:26128484 SELENON CTT>C	1	26128484	26128499	CTT	C	SELENON	c.302-9_302-8del	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26128498_26128499del	(Likely) benign	1 lab	c2523054ac
5:159839530 SLU7 T>TAAAAAA	5	159839530	159839544	T	TAAAAAA	SLU7	c.571-10_571-5dup	NM_006425.5	NP_006416.3:p.?	NC_000005.9:g.159839539_159839544dup	(Likely) benign	1 lab	c254432768
19:11210626 LDLR T>C	19	11210626	11210626	T	C	LDLR	c.68-273T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11210626T>C	(Likely) benign	1 lab	c2550bb944
3:38888490 SCN11A C>T	3	38888490	38888490	C	T	SCN11A	c.5071G>A	NM_014139.3	NP_054858.2:p.(Ala1691Thr)	NC_000003.11:g.38888490C>T	(Likely) benign	1 lab	c25b92db74
19:8191248 FBN3 A>G	19	8191248	8191248	A	G	FBN3	c.2555-17T>C	NM_032447.5	NP_115823.3:p.?	NC_000019.9:g.8191248A>G	(Likely) benign	1 lab	c25dc76e7e
6:110988796 CDK19 C>A	6	110988796	110988796	C	A	CDK19	c.316-19G>T	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110988796C>A	(Likely) benign	1 lab	c25eb76599
X:70443839 GJB1 C>A	X	70443839	70443839	C	A	GJB1	c.282C>A	NM_000166.6	NP_000157.1:p.(His94Gln)	NC_000023.10:g.70443839C>A	(Likely) pathogenic	1 lab	c2600210e3
17:15142868 PMP22 A>G	17	15142868	15142868	A	G	PMP22	c.239T>C	NM_000304.4	NP_000295.1:p.(Leu80Pro)	NC_000017.10:g.15142868A>G	(Likely) pathogenic	1 lab	c2696144fe
2:179446277 TTN A>G	2	179446277	179446277	A	G	TTN	c.66718T>C	NM_001267550.2	NP_001254479.2:p.(Tyr22240His)	NC_000002.11:g.179446277A>G	VUS	1 lab	c26c62a765
2:21239331 APOB G>A	2	21239331	21239331	G	A	APOB	c.3312C>T	NM_000384.3	NP_000375.3:p.(Val1104=)	NC_000002.11:g.21239331G>A	(Likely) benign	1 lab	c270299b58
17:15142908 PMP22 C>T	17	15142908	15142908	C	T	PMP22	c.199G>A	NM_000304.4	NP_000295.1:p.(Ala67Thr)	NC_000017.10:g.15142908C>T	(Likely) pathogenic	1 lab	c2725c773a
19:55668501 TNNI3 C>A	19	55668501	55668501	C	A	TNNI3	c.25G>T	NM_000363.5	NP_000354.4:p.(Ala9Ser)	NC_000019.9:g.55668501C>A	VUS	1 lab	c3201f915e
16:77325150 ADAMTS18 G>A	16	77325150	77325150	G	A	ADAMTS18	c.2886+13C>T	NM_001326358.2	NP_001313287.1:p.?	NC_000016.9:g.77325150G>A	(Likely) benign	1 lab	c27ddadaa0
1:198611793 PTPRC Ref too long to show for this DEL>T	1	198611793	198687352	Ref too long to show for this DEL	T	PTPRC	c.73+3323_1580del	NM_002838.5	NP_002829.3:p.?	NC_000001.10:g.198611794_198687352del	VUS	1 lab	c282bcee83
20:10637072 JAG1 C>T	20	10637072	10637072	C	T	JAG1	c.729G>A	NM_000214.3	NP_000205.1:p.(Gly243=)	NC_000020.10:g.10637072C>T	(Likely) benign	1 lab	c2831a751b
6:7577436 DSP T>C	6	7577436	7577436	T	C	DSP	c.2877+161T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577436T>C	(Likely) benign	1 lab	c285765920
12:8994036 A2ML1 T>C	12	8994036	8994036	T	C	A2ML1	c.1152T>C	NM_144670.6	NP_653271.3:p.(Asn384=)	NC_000012.11:g.8994036T>C	(Likely) benign	1 lab	c291b64466
19:49704057 TRPM4 G>A	19	49704057	49704057	G	A	TRPM4	c.2953+15G>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49704057G>A	(Likely) benign	1 lab	c293032c5e
16:982821 LMF1 A>C	16	982821	982821	A	C	LMF1	c.115+1170T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.982821A>C	(Likely) benign	1 lab	c29541ba66
7:21765465 DNAH11 CAGAA>C	7	21765465	21765472	CAGAA	C	DNAH11	c.7307_7310del	NM_001277115.2	NP_001264044.1:p.(Lys2436ArgfsTer2)	NC_000007.13:g.21765469_21765472del	(Likely) pathogenic	1 lab	c295d7f326
2:44102197 ABCG8 T>C	2	44102197	44102197	T	C	ABCG8	c.1489-88T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102197T>C	(Likely) benign	1 lab	c2977aa75b
19:49699691 TRPM4 C>T	19	49699691	49699691	C	T	TRPM4	c.2211-6C>T	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49699691C>T	(Likely) benign	1 lab	c34fd6c1d6
3:1638252 MISSING Ref too long to show for this DEL>T	3	1638252	2201014	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.1638253_2201014del	VUS	1 lab	c29cad6a00
11:68685249 IGHMBP2 C>T	11	68685249	68685249	C	T	IGHMBP2	c.958C>T	NM_002180.3	NP_002171.2:p.(Arg320Ter)	NC_000011.9:g.68685249C>T	(Likely) pathogenic	1 lab	c2a8c242df
7:128612630 TNPO3 A>G	7	128612630	128612630	A	G	TNPO3	c.2280T>C	NM_012470.4	NP_036602.1:p.(Ile760=)	NC_000007.13:g.128612630A>G	(Likely) benign	1 lab	c2adbb47d7
9:107647019 ABCA1 C>T	9	107647019	107647019	C	T	ABCA1	c.161-170G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107647019C>T	VUS	1 lab	c2b0a42cf6
5:147551048 MISSING A>Alt too long to show for this DUP	5	147551048	147582442	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.147551049_147582442dup	VUS	1 lab	c2b3a62d0d
1:159897681 IGSF9 TAA>T	1	159897681	159897696	TAA	T	IGSF9	c.3231-6_3231-5del	NM_001135050.2	NP_001128522.1:p.?	NC_000001.10:g.159897695_159897696del	(Likely) benign	1 lab	c2b6f6fb36
3:38627138 SCN5A G>A	3	38627138	38627138	G	A	SCN5A	c.2787+44C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627138G>A	(Likely) benign	1 lab	c2bb56aa19
X:49105097 CCDC22 G>A	X	49105097	49105097	G	A	CCDC22	c.1333G>A	NM_014008.5	NP_054727.1:p.(Glu445Lys)	NC_000023.10:g.49105097G>A	VUS	1 lab	c2bc65f607
3:60800698 FHIT Ref too long to show for this DEL>A	3	60800698	60824484	Ref too long to show for this DEL	A	FHIT	c.-110-16778_-18+6914del	NM_002012.4	NP_002003.1:p.?	NC_000003.11:g.60800700_60824484del	VUS	1 lab	c2c0a42121
19:11215995 LDLR C>G	19	11215995	11215995	C	G	LDLR	c.413C>G	NM_000527.5	NP_000518.1:p.(Ser138Ter)	NC_000019.9:g.11215995C>G	(Likely) pathogenic	1 lab	c2c6242540
2:24929631 NCOA1 A>G	2	24929631	24929631	A	G	NCOA1	c.1292A>G	NM_003743.5	NP_003734.3:p.(His431Arg)	NC_000002.11:g.24929631A>G	(Likely) benign	1 lab	c2c7c24548
7:98507881 TRRAP CTGTGA>C	7	98507881	98507886	CTGTGA	C	TRRAP	c.1554_1558del	NM_001244580.2	NP_001231509.1:p.(Val519ProfsTer52)	NC_000007.13:g.98507882_98507886del	(Likely) benign	1 lab	c2c80a7f5b
1:156834504 NTRK1 C>T	1	156834504	156834504	C	T	NTRK1	c.288-16C>T	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156834504C>T	(Likely) benign	1 lab	c2c82b17fe
6:7582871 DSP C>A	6	7582871	7582871	C	A	DSP	c.5380-4C>A	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7582871C>A	(Likely) benign	1 lab	c2c82e4022
22:51160013 SHANK3 TGCCCAGCCCCCGG>T	22	51160013	51160037	TGCCCAGCCCCCGG	T	SHANK3	c.3989_4001del	NM_001372044.2	NP_001358973.1:p.(Arg1330LeufsTer25)	NC_000022.10:g.51160025_51160037del	(Likely) pathogenic	1 lab	c2cad95309
3:53769430 CACNA1D A>G	3	53769430	53769430	A	G	CACNA1D	c.2711A>G	NM_000720.4	NP_000711.1:p.(Asn904Ser)	NC_000003.11:g.53769430A>G	VUS	1 lab	c2cc65b25e
2:238271906 COL6A3 G>A	2	238271906	238271906	G	A	COL6A3	c.6053C>T	NM_004369.4	NP_004360.2:p.(Ala2018Val)	NC_000002.11:g.238271906G>A	VUS	1 lab	c2ccdbaecd
1:55509872 PCSK9 T>C	1	55509872	55509872	T	C	PCSK9	c.399+165T>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509872T>C	(Likely) benign	1 lab	c2cda7360e
6:56475265 DST T>G	6	56475265	56475265	T	G	DST	c.5144A>C	NM_001144769.5	NP_001138241.1:p.(Gln1715Pro)	NC_000006.11:g.56475265T>G	(Likely) benign	1 lab	c2d04526ac
6:72678707 RIMS1 G>A	6	72678707	72678707	G	A	RIMS1	c.186G>A	NM_014989.6	NP_055804.2:p.(Ala62=)	NC_000006.11:g.72678707G>A	(Likely) benign	1 lab	c2d12d933e
9:137620375 COL5A1 C>T	9	137620375	137620375	C	T	COL5A1	c.787-141C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137620375C>T	VUS	1 lab	c2d3118182
18:22431406 MISSING G>Alt too long to show for this DUP	18	22431406	22792853	G	Alt too long to show for this DUP	MISSING				NC_000018.9:g.22431407_22792853dup	VUS	1 lab	c2d33f52e9
4:9846072 MISSING T>Alt too long to show for this DUP	4	9846072	10191738	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.9846075_10191738dup	VUS	1 lab	c2d5a91b36
19:46282503 DMPK A>C	19	46282503	46282503	A	C	DMPK	c.462+19T>G	NM_001081563.2	NP_001075032.1:p.?	NC_000019.9:g.46282503A>C	(Likely) benign	1 lab	c2e0cc708d
2:44064996 ABCG5 A>G	2	44064996	44064996	A	G	ABCG5	c.242T>C	NM_022436.3	NP_071881.1:p.(Ile81Thr)	NC_000002.11:g.44064996A>G	VUS	1 lab	c2e5a18fed
14:21447835 MISSING A>Alt too long to show for this DUP	14	21447835	21548859	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.21447836_21548859dup	VUS	1 lab	c2e783c57c
2:44050070 ABCG5 G>A	2	44050070	44050070	G	A	ABCG5	c.1329C>T	NM_022436.3	NP_071881.1:p.(Pro443=)	NC_000002.11:g.44050070G>A	(Likely) benign	1 lab	c2e86a9d9d
2:21225915 APOB C>T	2	21225915	21225915	C	T	APOB	c.12379G>A	NM_000384.3	NP_000375.3:p.(Asp4127Asn)	NC_000002.11:g.21225915C>T	VUS	1 lab	c2f1ceb70c
11:47372550 MYBPC3 G>C	11	47372550	47372550	G	C	MYBPC3	c.292+240C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372550G>C	(Likely) benign	1 lab	c2f844381b
3:49042354 P4HTM TG>T	3	49042354	49042355	TG	T	P4HTM	c.949del	NM_177938.2	NP_808807.2:p.(Val317PhefsTer30)	NC_000003.11:g.49042355del	VUS	1 lab	c2f92fe2a4
15:73660621 HCN4 G>A	15	73660621	73660621	G	A	HCN4	c.-10C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73660621G>A	(Likely) benign	1 lab	c2fb343632
17:7919139 GUCY2D G>T	17	7919139	7919139	G	T	GUCY2D	c.3023G>T	NM_000180.4	NP_000171.1:p.(Arg1008Leu)	NC_000017.10:g.7919139G>T	VUS	1 lab	c2fcfc8b7a
15:58838186 LIPC G>C	15	58838186	58838186	G	C	LIPC	c.808+12G>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58838186G>C	(Likely) benign	1 lab	c2fefd7895
9:107576822 ABCA1 G>A	9	107576822	107576822	G	A	ABCA1	c.3739-66C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576822G>A	(Likely) benign	1 lab	c30429710a
2:219647487 CYP27A1 G>A	2	219647487	219647487	G	A	CYP27A1	c.255+327G>A	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219647487G>A	(Likely) benign	1 lab	c307b5295f
1:25880261 LDLRAP1 C>CA	1	25880261	25880280	C	CA	LDLRAP1	c.89-133dup	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880280dup	(Likely) benign	1 lab	c307c696b3
19:12760200 MAN2B1 G>A	19	12760200	12760200	G	A	MAN2B1	c.2310C>T	NM_000528.4	NP_000519.2:p.(Pro770=)	NC_000019.9:g.12760200G>A	(Likely) benign	1 lab	c308d57c77
8:1841767 ARHGEF10 C>A	8	1841767	1841767	C	A	ARHGEF10	c.1290C>A	NM_001308153.2	NP_001295082.1:p.(Val430=)	NC_000008.10:g.1841767C>A	(Likely) benign	1 lab	c30cbc11cb
1:3329338 PRDM16 G>A	1	3329338	3329338	G	A	PRDM16	c.2577G>A	NM_022114.4	NP_071397.3:p.(Ser859=)	NC_000001.10:g.3329338G>A	(Likely) benign	1 lab	c3159381d8
1:223177297 DISP1 T>C	1	223177297	223177297	T	C	DISP1	c.2558T>C	NM_032890.5	NP_116279.2:p.(Ile853Thr)	NC_000001.10:g.223177297T>C	VUS	1 lab	c315d5c349
1:1375171 VWA1 G>A	1	1375171	1375171	G	A	VWA1	c.*4G>A	NM_022834.5	NP_073745.2:p.?	NC_000001.10:g.1375171G>A	(Likely) benign	1 lab	c316001eda
19:8176919 FBN3 C>T	19	8176919	8176919	C	T	FBN3	c.3903G>A	NM_032447.5	NP_115823.3:p.(Pro1301=)	NC_000019.9:g.8176919C>T	(Likely) benign	1 lab	c31c4c16cb
2:1507703 TPO C>T	2	1507703	1507703	C	T	TPO	c.2387-17C>T	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1507703C>T	(Likely) benign	1 lab	c31d005b2f
19:50370414 PNKP A>AG	19	50370414	50370420	A	AG	PNKP	c.47dup	NM_007254.4	NP_009185.2:p.(Gly17TrpfsTer42)	NC_000019.9:g.50370420dup	(Likely) pathogenic	1 lab	c327156b7c
2:105977772 FHL2 T>C	2	105977772	105977772	T	C	FHL2	c.484A>G	NM_001318899.2	NP_001305828.1:p.(Ile162Val)	NC_000002.11:g.105977772T>C	VUS	1 lab	c3282c2cb3
1:197391674 CRB1 G>GA	1	197391674	197391686	G	GA	CRB1	c.1921+600dup	NM_001257965.2	NP_001244894.1:p.?	NC_000001.10:g.197391686dup	(Likely) benign	1 lab	c3292d097a
19:10887899 DNM2 C>T	19	10887899	10887899	C	T	DNM2	c.688+7C>T	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10887899C>T	(Likely) benign	1 lab	c32e3d492f
12:131589406 MISSING Ref too long to show for this DEL>T	12	131589406	131762510	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.131589407_131762510del	VUS	1 lab	c32e567826
2:179427536 TTN-AS1 T>C	2	179427536	179427536	T	C	TTN-AS1	n.2044-19763T>C	NR_038272.1		NC_000002.11:g.179427536T>C	(Likely) benign	1 lab	c3363e0cf9
1:63063339 ANGPTL3 A>G	1	63063339	63063339	A	G	ANGPTL3	c.102A>G	NM_014495.4	NP_055310.1:p.(Lys34=)	NC_000001.10:g.63063339A>G	(Likely) benign	1 lab	c33c990afc
10:75843265 VCL G>A	10	75843265	75843265	G	A	VCL	c.1016G>A	NM_003373.4	NP_003364.1:p.(Arg339His)	NC_000010.10:g.75843265G>A	VUS	1 lab	c33e9b6a90
11:47372167 MYBPC3 C>G	11	47372167	47372167	C	G	MYBPC3	c.293-1G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372167C>G	(Likely) pathogenic	1 lab	c34d61a4e6
2:44039875 ABCG5 A>C	2	44039875	44039875	A	C	ABCG5	c.*380T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44039875A>C	(Likely) benign	1 lab	c353cf3122
2:179654800 TTN C>T	2	179654800	179654800	C	T	TTN	c.1843G>A	NM_001267550.2	NP_001254479.2:p.(Val615Ile)	NC_000002.11:g.179654800C>T	VUS	1 lab	c35500b738
10:61965625 ANK3 A>G	10	61965625	61965625	A	G	ANK3	c.1218T>C	NM_020987.5	NP_066267.2:p.(Ile406=)	NC_000010.10:g.61965625A>G	(Likely) benign	1 lab	c358ea99a7
15:44912482 SPG11 G>A	15	44912482	44912482	G	A	SPG11	c.2740C>T	NM_025137.4	NP_079413.3:p.(Gln914Ter)	NC_000015.9:g.44912482G>A	(Likely) pathogenic	1 lab	c3591dabfc
2:73652039 ALMS1 C>G	2	73652039	73652039	C	G	ALMS1	c.1240+9C>G	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73652039C>G	(Likely) benign	1 lab	c35de27264
4:652751 PDE6B C>T	4	652751	652751	C	T	PDE6B	c.1412C>T	NM_000283.4	NP_000274.3:p.(Ala471Val)	NC_000004.11:g.652751C>T	(Likely) benign	1 lab	c364a6b0fb
16:21946547 MISSING Ref too long to show for this DEL>T	16	21946547	22441961	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.21946548_22441961del	(Likely) pathogenic	1 lab	c36592b91d
2:44102634 ABCG8 C>T	2	44102634	44102634	C	T	ABCG8	c.1756+82C>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102634C>T	(Likely) benign	1 lab	c368a3f113
17:15168577 PMP22 G>C	17	15168577	15168577	G	C	PMP22	c.-141C>G	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15168577G>C	(Likely) benign	1 lab	c3703ac25f
X:18662681 RS1 T>C	X	18662681	18662681	T	C	RS1	c.391A>G	NM_000330.4	NP_000321.1:p.(Lys131Glu)	NC_000023.10:g.18662681T>C	VUS	1 lab	c382ec1982
10:54053657 PRKG1 C>T	10	54053657	54053657	C	T	PRKG1	c.2013C>T	NM_001098512.3	NP_001091982.1:p.(Phe671=)	NC_000010.10:g.54053657C>T	(Likely) benign	1 lab	c386666398
2:68788073 APLF Ref too long to show for this DEL>A	2	68788073	68804278	Ref too long to show for this DEL	A	APLF	c.1287-6397_1334-674del	NM_173545.3	NP_775816.1:p.?	NC_000002.11:g.68788076_68804278del	VUS	1 lab	c387ba0155
7:55240692 EGFR A>C	7	55240692	55240692	A	C	EGFR	c.1936A>C	NM_005228.5	NP_005219.2:p.(Ile646Leu)	NC_000007.13:g.55240692A>C	VUS	1 lab	c3889d2e98
1:6530607 PLEKHG5 C>T	1	6530607	6530607	C	T	PLEKHG5	c.1639G>A	NM_198681.4	NP_941374.3:p.(Ala547Thr)	NC_000001.10:g.6530607C>T	VUS	1 lab	c38dd9b96b
16:56535386 BBS2 G>A	16	56535386	56535386	G	A	BBS2	c.1104C>T	NM_031885.5	NP_114091.4:p.(Asn368=)	NC_000016.9:g.56535386G>A	(Likely) benign	1 lab	c39334da55
20:61460158 COL9A3 G>A	20	61460158	61460158	G	A	COL9A3	c.943G>A	NM_001853.4	NP_001844.3:p.(Asp315Asn)	NC_000020.10:g.61460158G>A	(Likely) benign	1 lab	c39bf6b1ed
14:23852516 MYH6 T>C	14	23852516	23852516	T	C	MYH6	c.5579A>G	NM_002471.4	NP_002462.2:p.(Lys1860Arg)	NC_000014.8:g.23852516T>C	(Likely) benign	1 lab	c39c58ff28
2:179396336 TTN C>T	2	179396336	179396336	C	T	TTN	c.105006G>A	NM_001267550.2	NP_001254479.2:p.(Leu35002=)	NC_000002.11:g.179396336C>T	(Likely) benign	1 lab	c39e7501f3
2:198152946 MISSING G>Alt too long to show for this DUP	2	198152946	198231210	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.198152947_198231210dup	VUS	1 lab	c3a2e98543
11:116661250 APOA5 G>A	11	116661250	116661250	G	A	APOA5	c.695C>T	NM_052968.5	NP_443200.2:p.(Ser232Phe)	NC_000011.9:g.116661250G>A	VUS	1 lab	c3a57ba96c
11:108168066 ATM A>G	11	108168066	108168066	A	G	ATM	c.4962A>G	NM_000051.4	NP_000042.3:p.(Leu1654=)	NC_000011.9:g.108168066A>G	(Likely) benign	1 lab	c3a658e6cc
3:49548294 DAG1 T>C	3	49548294	49548294	T	C	DAG1	c.285+42T>C	NM_001165928.3	NP_001159400.2:p.?	NC_000003.11:g.49548294T>C	(Likely) benign	1 lab	c3a6618c80
10:88466332 LDB3 C>CCCCGCTGCTG	10	88466332	88466348	C	CCCCGCTGCTG	LDB3	c.948_957dup	NM_007078.3	NP_009009.1:p.(Ser320AlafsTer70)	NC_000010.10:g.88466339_88466348dup	(Likely) pathogenic	1 lab	c3a7292170
2:73680733 ALMS1 G>C	2	73680733	73680733	G	C	ALMS1	c.7082G>C	NM_015120.4	NP_055935.4:p.(Arg2361Thr)	NC_000002.11:g.73680733G>C	(Likely) benign	1 lab	c3aa68ef6f
16:15841773 MYH11 G>A	16	15841773	15841773	G	A	MYH11	c.2229C>T	NM_001040113.2	NP_001035202.1:p.(Ile743=)	NC_000016.9:g.15841773G>A	(Likely) benign	1 lab	c3ad0acea3
4:190878580 FRG1 A>G	4	190878580	190878580	A	G	FRG1	c.460A>G	NM_004477.3	NP_004468.1:p.(Ser154Gly)	NC_000004.11:g.190878580A>G	(Likely) benign	1 lab	c3af0dc4b1
16:29591078 MISSING Ref too long to show for this DEL>T	16	29591078	30190030	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.29591080_30190030del	(Likely) pathogenic	1 lab	c3b2f63633
3:150660197 CLRN1 A>C	3	150660197	150660197	A	C	CLRN1	c.254-649T>G	NM_001195794.1	NP_001182723.1:p.?	NC_000003.11:g.150660197A>C	(Likely) pathogenic	1 lab	c3b6e197d5
X:70444029 GJB1 C>G	X	70444029	70444029	C	G	GJB1	c.472C>G	NM_000166.6	NP_000157.1:p.(Pro158Ala)	NC_000023.10:g.70444029C>G	(Likely) pathogenic	1 lab	c3b6e4a50d
11:17531142 USH1C A>G	11	17531142	17531142	A	G	USH1C	c.1774T>C	NM_153676.4	NP_710142.1:p.(Ser592Pro)	NC_000011.9:g.17531142A>G	(Likely) benign	1 lab	c3b7501f55
1:63067440 ANGPTL3 G>C	1	63067440	63067440	G	C	ANGPTL3	c.722G>C	NM_014495.4	NP_055310.1:p.(Gly241Ala)	NC_000001.10:g.63067440G>C	(Likely) benign	1 lab	c3be0b4304
1:237580340 RYR2 T>TG	1	237580340	237580341	T	TG	RYR2	c.774-9_774-8insG	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237580340_237580341insG	(Likely) benign	1 lab	c3c30d0b63
19:49692183 TRPM4 A>G	19	49692183	49692183	A	G	TRPM4	c.1874-20A>G	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49692183A>G	(Likely) benign	1 lab	c3c32fa75b
8:38278952 FGFR1 T>Alt too long to show for this DUP	8	38278952	38288433	T	Alt too long to show for this DUP	FGFR1	c.92-967_1081+362dup	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38278953_38288433dup	VUS	1 lab	c3c5238a76
10:69959256 MYPN C>T	10	69959256	69959256	C	T	MYPN	c.3417C>T	NM_032578.4	NP_115967.2:p.(Arg1139=)	NC_000010.10:g.69959256C>T	(Likely) benign	1 lab	c3caadda87
2:21242584 APOB G>A	2	21242584	21242584	G	A	APOB	c.2999+11C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21242584G>A	(Likely) benign	1 lab	c3d42f8297
11:71209518 NADSYN1 C>T	11	71209518	71209518	C	T	NADSYN1	c.2014C>T	NM_018161.5	NP_060631.2:p.(Arg672Ter)	NC_000011.9:g.71209518C>T	(Likely) pathogenic	1 lab	c3d9dd7fe5
1:248058989 OR2W3 C>T	1	248058989	248058989	C	T	OR2W3	c.101C>T	NM_001001957.2	NP_001001957.2:p.(Ala34Val)	NC_000001.10:g.248058989C>T	VUS	1 lab	c3daf333db
2:179578678 TTN C>T	2	179578678	179578678	C	T	TTN	c.26707G>A	NM_001267550.2	NP_001254479.2:p.(Glu8903Lys)	NC_000002.11:g.179578678C>T	VUS	1 lab	c3daf585b0
5:73981361 HEXB C>A	5	73981361	73981361	C	A	HEXB	c.276C>A	NM_000521.4	NP_000512.2:p.(Thr92=)	NC_000005.9:g.73981361C>A	(Likely) benign	1 lab	c3e020d8b5
8:144297067 GPIHBP1 G>T	8	144297067	144297067	G	T	GPIHBP1	c.295+66G>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297067G>T	(Likely) benign	1 lab	c3eea66134
12:7242299 C1R G>A	12	7242299	7242299	G	A	C1R	c.455C>T	NM_001733.7	NP_001724.4:p.(Ser152Leu)	NC_000012.11:g.7242299G>A	(Likely) benign	1 lab	c3f7f37c05
2:179401980 TTN G>A	2	179401980	179401980	G	A	TTN	c.99866-10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179401980G>A	(Likely) benign	1 lab	c3fb83b3d0
1:214820239 CENPF G>A	1	214820239	214820239	G	A	CENPF	c.7326G>A	NM_016343.4	NP_057427.3:p.(Met2442Ile)	NC_000001.10:g.214820239G>A	VUS	1 lab	c3fe112f2e
9:113562969 MUSK C>T	9	113562969	113562969	C	T	MUSK	c.2311C>T	NM_005592.4	NP_005583.1:p.(Pro771Ser)	NC_000009.11:g.113562969C>T	VUS	1 lab	c40068a201
1:55525746 PCSK9 A>C	1	55525746	55525746	A	C	PCSK9	c.1681+410A>C	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525746A>C	(Likely) benign	1 lab	c40507fffb
19:11212995 LDLR T>TTG	19	11212995	11213011	T	TTG	LDLR	c.191-330_191-329dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213010_11213011dup	(Likely) benign	1 lab	c4070c5230
16:57007326 CETP G>A	16	57007326	57007326	G	A	CETP	c.834G>A	NM_000078.3	NP_000069.2:p.(Leu278=)	NC_000016.9:g.57007326G>A	(Likely) benign	1 lab	c41197c3a3
14:76330180 TTLL5 TGGACC>T	14	76330180	76330185	TGGACC	T	TTLL5	c.3498_3502del	NM_015072.5	NP_055887.3:p.(Asp1167GlufsTer16)	NC_000014.8:g.76330181_76330185del	VUS	1 lab	c414f78d9a
12:21370203 SLCO1B1 C>A	12	21370203	21370203	C	A	SLCO1B1	c.1648C>A	NM_006446.5	NP_006437.3:p.(Leu550Ile)	NC_000012.11:g.21370203C>A	(Likely) benign	1 lab	c41adf7b13
2:179576946 TTN G>A	2	179576946	179576946	G	A	TTN	c.27611C>T	NM_001267550.2	NP_001254479.2:p.(Pro9204Leu)	NC_000002.11:g.179576946G>A	VUS	1 lab	c41ea8d4ed
22:25024326 GGT1 G>A	22	25024326	25024326	G	A	GGT1	c.1534G>A	NM_001288833.2	NP_001275762.1:p.(Val512Ile)	NC_000022.10:g.25024326G>A	(Likely) benign	1 lab	c42122ad81
14:23885419 MYH7 T>A	14	23885419	23885419	T	A	MYH7	c.4747A>T	NM_000257.4	NP_000248.2:p.(Met1583Leu)	NC_000014.8:g.23885419T>A	VUS	1 lab	c421b062a5
2:179481857 TTN G>A	2	179481857	179481857	G	A	TTN	c.47865C>T	NM_001267550.2	NP_001254479.2:p.(Asp15955=)	NC_000002.11:g.179481857G>A	(Likely) benign	1 lab	c422be4557
3:2777784 CNTN4 Ref too long to show for this DEL>G	3	2777784	2980918	Ref too long to show for this DEL	G	CNTN4	c.56-114_1358+13455del	NM_175607.3	NP_783200.1:p.?	NC_000003.11:g.2777785_2980918del	VUS	1 lab	c42eeebd31
4:114120247 ANK2 T>C	4	114120247	114120247	T	C	ANK2	c.366T>C	NM_001148.6	NP_001139.3:p.(Asn122=)	NC_000004.11:g.114120247T>C	(Likely) benign	1 lab	c432049532
15:31332316 TRPM1 C>T	15	31332316	31332316	C	T	TRPM1	c.2367+5G>A	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31332316C>T	VUS	1 lab	c434fad0fe
X:152915033 DUSP9 C>T	X	152915033	152915033	C	T	DUSP9	c.720C>T	NM_001318503.2	NP_001305432.1:p.(Leu240=)	NC_000023.10:g.152915033C>T	(Likely) benign	1 lab	c436809bb9
3:79966 MISSING Ref too long to show for this DEL>C	3	79966	1242227	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.79968_1242227del	VUS	1 lab	c43a725394
5:140057357 HARS1 T>C	5	140057357	140057357	T	C	HARS1	c.631-19A>G	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140057357T>C	(Likely) benign	1 lab	c43dfe5cd2
3:38622416 SCN5A G>C	3	38622416	38622416	G	C	SCN5A	c.3228+6C>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38622416G>C	(Likely) benign	1 lab	c43e289164
8:1841758 ARHGEF10 T>C	8	1841758	1841758	T	C	ARHGEF10	c.1206T>C	NM_014629.4	NP_055444.2:p.(Gly402=)	NC_000008.10:g.1841758T>C	(Likely) benign	1 lab	c4456b743a
8:62556606 ASPH T>C	8	62556606	62556606	T	C	ASPH	c.653-46A>G	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62556606T>C	(Likely) benign	1 lab	c446b1f636
2:44065040 ABCG5 C>T	2	44065040	44065040	C	T	ABCG5	c.198G>A	NM_022436.3	NP_071881.1:p.(Arg66=)	NC_000002.11:g.44065040C>T	(Likely) benign	1 lab	c44b754e9d
8:59407139 CYP7A1 G>A	8	59407139	59407139	G	A	CYP7A1	c.965C>T	NM_000780.4	NP_000771.2:p.(Ala322Val)	NC_000008.10:g.59407139G>A	(Likely) benign	1 lab	c451e01146
9:107665978 ABCA1 C>G	9	107665978	107665978	C	G	ABCA1	c.-18G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107665978C>G	(Likely) benign	1 lab	c4546ad6fa
4:166300695 CPE C>T	4	166300695	166300695	C	T	CPE	c.307+15C>T	NM_001873.4	NP_001864.1:p.?	NC_000004.11:g.166300695C>T	(Likely) benign	1 lab	c455b8f343
X:118604399 SLC25A5 C>G	X	118604399	118604399	C	G	SLC25A5	c.662C>G	NM_001152.5	NP_001143.2:p.(Thr221Ser)	NC_000023.10:g.118604399C>G	(Likely) benign	1 lab	c455c60310
X:32716063 DMD C>T	X	32716063	32716063	C	T	DMD	c.884G>A	NM_004006.3	NP_003997.2:p.(Arg295Gln)	NC_000023.10:g.32716063C>T	(Likely) benign	1 lab	c45658b1c8
19:11216000 LDLR G>A	19	11216000	11216000	G	A	LDLR	c.418G>A	NM_000527.5	NP_000518.1:p.(Glu140Lys)	NC_000019.9:g.11216000G>A	(Likely) pathogenic	1 lab	c45be3f4a9
7:16619546 MISSING Ref too long to show for this DEL>A	7	16619546	16650345	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.16619547_16650345del	VUS	1 lab	c45fd211db
16:88925112 GALNS A>G	16	88925112	88925112	A	G	GALNS				NC_000016.9:g.88925112A>G	(Likely) benign	1 lab	c5169975c9
7:100285168 GIGYF1 CA>C	7	100285168	100285169	CA	C	GIGYF1	c.332del	NM_001375759.1	NP_001362688.1:p.(Leu111ArgfsTer234)	NC_000007.13:g.100285169del	VUS	1 lab	c46787081b
12:65110517 GNS G>GT	12	65110517	65110518	G	GT	GNS	c.*3dup	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65110518dup	(Likely) benign	1 lab	c467e172c8
4:114204009 ANK2 A>G	4	114204009	114204009	A	G	ANK2	c.2060A>G	NM_001148.6	NP_001139.3:p.(Asn687Ser)	NC_000004.11:g.114204009A>G	VUS	1 lab	c46b2bf2bc
4:154191573 TRIM2 G>C	4	154191573	154191573	G	C	TRIM2	c.36G>C	NM_001375512.1	NP_001362441.1:p.(Val12=)	NC_000004.11:g.154191573G>C	(Likely) benign	1 lab	c46b605ecb
6:56484583 DST G>T	6	56484583	56484583	G	T	DST	c.4249C>A	NM_001723.7	NP_001714.1:p.(Leu1417Ile)	NC_000006.11:g.56484583G>T	VUS	1 lab	c46cc01886
X:70443728 GJB1 G>C	X	70443728	70443728	G	C	GJB1	c.171G>C	NM_000166.6	NP_000157.1:p.(Gln57His)	NC_000023.10:g.70443728G>C	(Likely) pathogenic	1 lab	c47351b467
16:3450152 MISSING Ref too long to show for this DEL>T	16	3450152	3465721	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.3450155_3465721del	VUS	1 lab	c47a1d61f1
9:107581983 ABCA1 G>A	9	107581983	107581983	G	A	ABCA1	c.3125C>T	NM_005502.4	NP_005493.2:p.(Ser1042Phe)	NC_000009.11:g.107581983G>A	VUS	1 lab	c47bfbdb25
1:174234361 RABGAP1L Ref too long to show for this DEL>C	1	174234361	174370688	Ref too long to show for this DEL	C	RABGAP1L	c.987-7186_1710+7405del	NM_001366446.1	NP_001353375.1:p.?	NC_000001.10:g.174234366_174370688del	VUS	1 lab	c481dba994
1:144930977 PDE4DIP A>C	1	144930977	144930977	A	C	PDE4DIP	c.732T>G	NM_001002811.2	NP_001002811.2:p.(Ser244=)	NC_000001.10:g.144930977A>C	(Likely) benign	1 lab	c4889808ff
X:55172708 VCF2 T>G	X	55172708	55172708	T	G	VCF2	c.154A>C	NM_001166703.2	NP_001160175.1:p.(Ile52Leu)	NC_000023.10:g.55172708T>G	(Likely) benign	1 lab	c48ccfa2df
7:128490417 FLNC G>A	7	128490417	128490417	G	A	FLNC	c.5299-21G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128490417G>A	(Likely) benign	1 lab	c48e33f5c5
10:88428554 LDB3 T>C	10	88428554	88428554	T	C	LDB3	c.93+13T>C	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88428554T>C	(Likely) benign	1 lab	c49004295d
2:179528836 TTN A>G	2	179528836	179528836	A	G	TTN	c.36281-11T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528836A>G	(Likely) benign	1 lab	c490ff2a2f
12:46123842 ARID2 AAT>A	12	46123842	46123844	AAT	A	ARID2	c.109_110del	NM_152641.4	NP_689854.2:p.(Ile37ProfsTer28)	NC_000012.11:g.46123843_46123844del	(Likely) pathogenic	1 lab	c4946f10f7
19:48197918 BICRA C>T	19	48197918	48197918	C	T	BICRA	c.2830C>T	NM_015711.3	NP_056526.3:p.(Gln944Ter)	NC_000019.9:g.48197918C>T	(Likely) pathogenic	1 lab	c496294838
X:32430033 DMD A>G	X	32430033	32430033	A	G	DMD	c.3703-3T>C	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32430033A>G	(Likely) benign	1 lab	c49d1111be
2:220505265 SLC4A3 T>C	2	220505265	220505265	T	C	SLC4A3	c.3472T>C	NM_001326559.2	NP_001313488.2:p.(Leu1158=)	NC_000002.11:g.220505265T>C	(Likely) benign	1 lab	c49f8f881b
19:5110798 KDM4B C>T	19	5110798	5110798	C	T	KDM4B	c.1084C>T	NM_015015.3	NP_055830.1:p.(Arg362Trp)	NC_000019.9:g.5110798C>T	VUS	1 lab	c4ac99de3a
7:73467544 ELN T>C	7	73467544	73467544	T	C	ELN	c.1001T>C	NM_000501.4	NP_000492.2:p.(Val334Ala)	NC_000007.13:g.73467544T>C	(Likely) benign	1 lab	c4b0528f3d
15:72038864 THSD4 G>C	15	72038864	72038864	G	C	THSD4	c.2037-313G>C	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72038864G>C	(Likely) benign	1 lab	c4b2e2545c
17:39914777 JUP G>A	17	39914777	39914777	G	A	JUP	c.1654-7C>T	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39914777G>A	(Likely) benign	1 lab	c4b55cf6af
1:39479239 MISSING G>Alt too long to show for this DUP	1	39479239	39813661	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.39479241_39813661dup	(Likely) pathogenic	1 lab	c4c47218f6
9:107546577 ABCA1 C>A	9	107546577	107546577	C	A	ABCA1	c.*19G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546577C>A	(Likely) benign	1 lab	c4c499aff8
6:42689940 PRPH2 G>A	6	42689940	42689940	G	A	PRPH2	c.133C>T	NM_000322.5	NP_000313.2:p.(Leu45Phe)	NC_000006.11:g.42689940G>A	(Likely) benign	1 lab	c4c769a486
7:128483849 FLNC G>C	7	128483849	128483849	G	C	FLNC	c.2812-1G>C	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483849G>C	VUS	1 lab	c4cb831776
5:149247372 PDE6A AC>A	5	149247372	149247373	AC	A	PDE6A	c.2200-11del	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149247373del	(Likely) benign	1 lab	c4cbc9590e
1:213058733 FLVCR1 A>C	1	213058733	213058733	A	C	FLVCR1	c.1191A>C	NM_014053.4	NP_054772.1:p.(Thr397=)	NC_000001.10:g.213058733A>C	(Likely) benign	1 lab	c4ce0b1daa
15:75561149 GOLGA6C C>G	15	75561149	75561149	C	G	GOLGA6C	c.1513C>G	NM_001164404.1	NP_001157876.1:p.(Gln505Glu)	NC_000015.9:g.75561149C>G	(Likely) benign	1 lab	c4ce33afd9
12:122257776 SETD1B C>G	12	122257776	122257776	C	G	SETD1B	c.3885C>G	NM_001353345.2	NP_001340274.1:p.(Pro1295=)	NC_000012.11:g.122257776C>G	(Likely) benign	1 lab	c4ceb36b87
19:50752897 MYH14 G>A	19	50752897	50752897	G	A	MYH14	c.1483-10G>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50752897G>A	(Likely) benign	1 lab	c4d046817e
14:104319815 MISSING C>Alt too long to show for this DUP	14	104319815	105122612	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.104319816_105122612dup	VUS	1 lab	c4d1409cf9
6:16143953 MYLIP T>C	6	16143953	16143953	T	C	MYLIP	c.686T>C	NM_013262.4	NP_037394.2:p.(Met229Thr)	NC_000006.11:g.16143953T>C	(Likely) benign	1 lab	c4d166f618
4:100544284 MTTP C>G	4	100544284	100544284	C	G	MTTP	c.*279C>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100544284C>G	(Likely) benign	1 lab	c4d2cd3ef2
16:920817 LMF1 C>T	16	920817	920817	C	T	LMF1	c.745G>A	NM_001352018.2	NP_001338947.1:p.(Val249Met)	NC_000016.9:g.920817C>T	VUS	1 lab	c4d65c63b1
2:15519713 NBAS A>G	2	15519713	15519713	A	G	NBAS	c.3590+13T>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15519713A>G	(Likely) benign	1 lab	c4e2e6dbd7
21:44479084 CBS G>A	21	44479084	44479084	G	A	CBS	c.1224-6C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44479084G>A	(Likely) benign	1 lab	c4e5099102
4:4864419 MSX1 G>A	4	4864419	4864419	G	A	MSX1	c.470-9G>A	NM_002448.3	NP_002439.2:p.?	NC_000004.11:g.4864419G>A	(Likely) pathogenic	1 lab	c4e6404387
10:112344009 SMC3 CAAA>C	10	112344009	112344013	CAAA	C	SMC3	c.1162_1164del	NM_005445.4	NP_005436.1:p.(Lys388del)	NC_000010.10:g.112344011_112344013del	(Likely) pathogenic	1 lab	c4eddf47bc
2:44058978 ABCG5 A>G	2	44058978	44058978	A	G	ABCG5	c.431T>C	NM_022436.3	NP_071881.1:p.(Val144Ala)	NC_000002.11:g.44058978A>G	VUS	1 lab	c4f57e1785
2:44079965 ABCG8 G>A	2	44079965	44079965	G	A	ABCG8	c.922G>A	NM_022437.3	NP_071882.1:p.(Gly308Ser)	NC_000002.11:g.44079965G>A	VUS	1 lab	c4f7f56781
1:74818986 FPGT-TNNI3K A>G	1	74818986	74818986	A	G	FPGT-TNNI3K	c.1272A>G	NM_001112808.3	NP_001106279.3:p.(Lys424=)	NC_000001.10:g.74818986A>G	(Likely) benign	1 lab	c4f8a00a5e
9:137644656 COL5A1 C>T	9	137644656	137644656	C	T	COL5A1	c.1719+165C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137644656C>T	(Likely) benign	1 lab	c4fbd84467
11:66333567 CTSF TG>T	11	66333567	66333569	TG	T	CTSF	c.792del	NM_003793.4	NP_003784.2:p.(Lys265SerfsTer81)	NC_000011.9:g.66333569del	(Likely) pathogenic	1 lab	c504f15d03
12:21370110 SLCO1B1 G>T	12	21370110	21370110	G	T	SLCO1B1	c.1555G>T	NM_006446.5	NP_006437.3:p.(Ala519Ser)	NC_000012.11:g.21370110G>T	(Likely) benign	1 lab	c50e800de5
17:42463054 ITGA2B G>C	17	42463054	42463054	G	C	ITGA2B	c.439C>G	NM_000419.5	NP_000410.2:p.(Leu147Val)	NC_000017.10:g.42463054G>C	(Likely) benign	1 lab	c5143c5dd2
4:177713430 VEGFC A>T	4	177713430	177713430	A	T	VEGFC	c.36T>A	NM_005429.5	NP_005420.1:p.(Ser12=)	NC_000004.11:g.177713430A>T	(Likely) benign	1 lab	c51d82a649
19:11230899 LDLR C>A	19	11230899	11230899	C	A	LDLR	c.1977C>A	NM_000527.5	NP_000518.1:p.(Thr659=)	NC_000019.9:g.11230899C>A	(Likely) benign	1 lab	c52875baff
16:89350109 ANKRD11 G>A	16	89350109	89350109	G	A	ANKRD11	c.2841C>T	NM_001256182.2	NP_001243111.1:p.(Ala947=)	NC_000016.9:g.89350109G>A	(Likely) benign	1 lab	c529475068
1:235659621 B3GALNT2 GAA>G	1	235659621	235659635	GAA	G	B3GALNT2	c.113-1485_113-1484del	NM_152490.5	NP_689703.1:p.?	NC_000001.10:g.235659634_235659635del	(Likely) benign	1 lab	c52abfde32
8:62538855 ASPH G>A	8	62538855	62538855	G	A	ASPH	c.935-7277C>T	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62538855G>A	(Likely) benign	1 lab	c52d095146
22:24109593 CHCHD10 T>C	22	24109593	24109593	T	C	CHCHD10	c.229A>G	NM_001301339.2	NP_001288268.1:p.(Ser77Gly)	NC_000022.10:g.24109593T>C	(Likely) benign	1 lab	c52d46e0d1
12:48380914 COL2A1 C>T	12	48380914	48380914	C	T	COL2A1	c.1312G>A	NM_001844.5	NP_001835.3:p.(Gly438Ser)	NC_000012.11:g.48380914C>T	(Likely) pathogenic	1 lab	c533ea2270
2:179453251 TTN C>G	2	179453251	179453251	C	G	TTN	c.63187+14G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179453251C>G	(Likely) benign	1 lab	c53625800b
15:34010414 MISSING Ref too long to show for this DEL>C	15	34010414	34346362	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.34010416_34346362del	VUS	1 lab	c537418dd0
15:85401001 ALPK3 C>T	15	85401001	85401001	C	T	ALPK3	c.3032C>T	NM_020778.5	NP_065829.4:p.(Ser1011Leu)	NC_000015.9:g.85401001C>T	VUS	1 lab	c538549c18
20:41181629 PTPRT Ref too long to show for this DEL>T	20	41181629	41243488	Ref too long to show for this DEL	T	PTPRT	c.1153+63019_1154-80428del	NM_007050.6	NP_008981.4:p.?	NC_000020.10:g.41181631_41243488del	(Likely) benign	1 lab	c53bdc7120
7:128486181 FLNC G>A	7	128486181	128486181	G	A	FLNC	c.3928G>A	NM_001458.5	NP_001449.3:p.(Gly1310Ser)	NC_000007.13:g.128486181G>A	VUS	1 lab	c53f9fd185
5:7891546 MTRR G>A	5	7891546	7891546	G	A	MTRR	c.1370+19G>A	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7891546G>A	(Likely) benign	1 lab	c5413b3ba9
X:138629973 F9 A>Alt too long to show for this DUP	X	138629973	138640484	A	Alt too long to show for this DUP	F9	c.392-548_724-2416dup	NM_000133.4	NP_000124.1:p.?	NC_000023.10:g.138629974_138640484dup	VUS	1 lab	c541b2bdcd
13:37427539 SMAD9 T>G	13	37427539	37427539	T	G	SMAD9	c.1260+17A>C	NM_001127217.3	NP_001120689.1:p.?	NC_000013.10:g.37427539T>G	(Likely) benign	1 lab	c5420e265e
X:128382705 MISSING T>Alt too long to show for this DUP	X	128382705	129196282	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.128382707_129196282dup	VUS	1 lab	c549f376db
2:38302130 CYP1B1 G>A	2	38302130	38302130	G	A	CYP1B1	c.402C>T	NM_000104.4	NP_000095.2:p.(Phe134=)	NC_000002.11:g.38302130G>A	(Likely) benign	1 lab	c54c2f6c76
16:1005351 LMF1 G>A	16	1005351	1005351	G	A	LMF1	c.-361-685C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005351G>A	(Likely) benign	1 lab	c5571b3222
12:56115707 RDH5 T>C	12	56115707	56115707	T	C	RDH5	c.545T>C	NM_002905.5	NP_002896.2:p.(Leu182Pro)	NC_000012.11:g.56115707T>C	VUS	1 lab	c5581dc293
2:21229873 APOB G>T	2	21229873	21229873	G	T	APOB	c.9867C>A	NM_000384.3	NP_000375.3:p.(Asp3289Glu)	NC_000002.11:g.21229873G>T	(Likely) benign	1 lab	c558623aa1
6:7577187 DSP T>TA	6	7577187	7577188	T	TA	DSP	c.2794-4dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577188dup	(Likely) benign	1 lab	c559feeb1a
2:21235208 APOB G>A	2	21235208	21235208	G	A	APOB	c.4532C>T	NM_000384.3	NP_000375.3:p.(Thr1511Ile)	NC_000002.11:g.21235208G>A	(Likely) benign	1 lab	c55a05a571
19:36211494 KMT2B A>C	19	36211494	36211494	A	C	KMT2B	c.1245A>C	NM_014727.3	NP_055542.1:p.(Pro415=)	NC_000019.9:g.36211494A>C	(Likely) benign	1 lab	c55a12ba9b
2:179495790 TTN T>G	2	179495790	179495790	T	G	TTN	c.43985A>C	NM_001267550.2	NP_001254479.2:p.(Asp14662Ala)	NC_000002.11:g.179495790T>G	VUS	1 lab	c55c5d8aac
X:9682977 TBL1X C>T	X	9682977	9682977	C	T	TBL1X	c.1641C>T	NM_005647.4	NP_005638.1:p.(Gly547=)	NC_000023.10:g.9682977C>T	(Likely) benign	1 lab	c55d970ce5
15:72050262 THSD4 G>A	15	72050262	72050262	G	A	THSD4	c.2437G>A	NM_024817.2	NP_079093.2:p.(Gly813Arg)	NC_000015.9:g.72050262G>A	VUS	1 lab	c55e35728b
4:166300553 CPE C>T	4	166300553	166300553	C	T	CPE	c.180C>T	NM_001873.4	NP_001864.1:p.(Arg60=)	NC_000004.11:g.166300553C>T	(Likely) benign	1 lab	c561f3889f
2:179452501 TTN T>C	2	179452501	179452501	T	C	TTN	c.55831A>G	NM_133378.4	NP_596869.4:p.(Ser18611Gly)	NC_000002.11:g.179452501T>C	VUS	1 lab	c562155be0
10:61834285 ANK3 G>A	10	61834285	61834285	G	A	ANK3	c.6354C>T	NM_020987.5	NP_066267.2:p.(His2118=)	NC_000010.10:g.61834285G>A	(Likely) benign	1 lab	c562800158
9:140707461 EHMT1 CTTTCTT>C	9	140707461	140707468	CTTTCTT	C	EHMT1	c.2873_2878del	NM_024757.5	NP_079033.4:p.(Phe958_Leu959del)	NC_000009.11:g.140707463_140707468del	(Likely) pathogenic	1 lab	c564ffed3d
19:45409916 APOE T>A	19	45409916	45409916	T	A	APOE	c.113T>A	NM_001302688.2	NP_001289617.1:p.(Phe38Tyr)	NC_000019.9:g.45409916T>A	VUS	1 lab	c56523eb10
2:167060244 SCN9A T>C	2	167060244	167060244	T	C	SCN9A	c.4741+221A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060244T>C	(Likely) benign	1 lab	c568db5fd6
8:144297773 GPIHBP1 C>T	8	144297773	144297773	C	T	GPIHBP1	c.*380C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297773C>T	(Likely) benign	1 lab	c5691ca26f
2:179430433 TTN C>T	2	179430433	179430433	C	T	TTN	c.80426G>A	NM_001267550.2	NP_001254479.2:p.(Gly26809Asp)	NC_000002.11:g.179430433C>T	VUS	1 lab	c56c589b20
22:50897738 SBF1 C>T	22	50897738	50897738	C	T	SBF1	c.3772G>A	NM_002972.4	NP_002963.2:p.(Ala1258Thr)	NC_000022.10:g.50897738C>T	VUS	1 lab	c56e6d079b
19:6710661 C3 A>G	19	6710661	6710661	A	G	C3	c.1675T>C	NM_000064.4	NP_000055.2:p.(Cys559Arg)	NC_000019.9:g.6710661A>G	VUS	1 lab	c56e72a247
1:155330201 ASH1L C>T	1	155330201	155330201	C	T	ASH1L	c.6702-1G>A	NM_001366177.2	NP_001353106.1:p.?	NC_000001.10:g.155330201C>T	(Likely) pathogenic	1 lab	c573b1b4c7
15:89819943 FANCI G>A	15	89819943	89819943	G	A	FANCI	c.1114G>A	NM_001113378.2	NP_001106849.1:p.(Val372Ile)	NC_000015.9:g.89819943G>A	(Likely) benign	1 lab	c5753b25f9
15:48818755 FBN1 T>C	15	48818755	48818755	T	C	FBN1	c.863-303A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48818755T>C	(Likely) benign	1 lab	c5770187cd
1:40779952 COL9A2 G>T	1	40779952	40779952	G	T	COL9A2	c.187-13C>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40779952G>T	(Likely) benign	1 lab	c5793a3083
20:20601064 RALGAPA2 Ref too long to show for this DEL>A	20	20601064	20634354	Ref too long to show for this DEL	A	RALGAPA2	c.271-120_1401+42del	NM_020343.4	NP_065076.2:p.?	NC_000020.10:g.20601068_20634354del	VUS	1 lab	c57b64250c
1:55524303 PCSK9 C>T	1	55524303	55524303	C	T	PCSK9	c.1486C>T	NM_174936.4	NP_777596.2:p.(Arg496Trp)	NC_000001.10:g.55524303C>T	(Likely) pathogenic	1 lab	c57ce1d109
14:81574799 TSHR G>A	14	81574799	81574799	G	A	TSHR	c.692+3G>A	NM_000369.5	NP_000360.2:p.?	NC_000014.8:g.81574799G>A	VUS	1 lab	c581574271
8:144522386 ZC3H3 TGAG>T	8	144522386	144522409	TGAG	T	ZC3H3	c.2637_2639del	NM_015117.3	NP_055932.2:p.(Ser881del)	NC_000008.10:g.144522407_144522409del	(Likely) benign	1 lab	c584022a12
2:25387606 POMC C>T	2	25387606	25387606	C	T	POMC	c.36G>A	NM_001035256.3	NP_001030333.1:p.(Leu12=)	NC_000002.11:g.25387606C>T	(Likely) benign	1 lab	c58ce4ac69
8:19811323 LPL C>T	8	19811323	19811323	C	T	LPL	c.542-308C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811323C>T	VUS	1 lab	c58d31af6d
11:46321657 CREB3L1 G>A	11	46321657	46321657	G	A	CREB3L1	c.274G>A	NM_052854.4	NP_443086.1:p.(Gly92Ser)	NC_000011.9:g.46321657G>A	(Likely) benign	1 lab	c594b667cb
9:80877885 CEP78 T>TA	9	80877885	80877888	T	TA	CEP78	c.1449dup	NM_001349839.2	NP_001336768.1:p.(Arg484ThrfsTer4)	NC_000009.11:g.80877888dup	(Likely) pathogenic	1 lab	c59541dd03
1:5947442 NPHP4 C>G	1	5947442	5947442	C	G	NPHP4	c.2389G>C	NM_015102.5	NP_055917.1:p.(Val797Leu)	NC_000001.10:g.5947442C>G	VUS	1 lab	c599d9d7d5
20:741814 SLC52A3 G>C	20	741814	741814	G	C	SLC52A3	c.1266C>G	NM_001370086.1	NP_001357015.1:p.(Arg422=)	NC_000020.10:g.741814G>C	(Likely) benign	1 lab	c59faa3789
16:943038 LMF1 C>T	16	943038	943038	C	T	LMF1	c.299G>A	NM_001352018.2	NP_001338947.1:p.(Arg100Gln)	NC_000016.9:g.943038C>T	VUS	1 lab	c5a086dc2b
3:101038540 IMPG2 C>T	3	101038540	101038540	C	T	IMPG2	c.222G>A	NM_016247.4	NP_057331.2:p.(Gln74=)	NC_000003.11:g.101038540C>T	(Likely) benign	1 lab	c5a4d5e880
3:100432724 TFG T>C	3	100432724	100432724	T	C	TFG	c.184+11T>C	NM_006070.6	NP_006061.2:p.?	NC_000003.11:g.100432724T>C	(Likely) benign	1 lab	c5a83f05be
15:73015187 BBS4 A>G	15	73015187	73015187	A	G	BBS4	c.458A>G	NM_033028.5	NP_149017.2:p.(Lys153Arg)	NC_000015.9:g.73015187A>G	VUS	1 lab	c5a97eb310
11:76905391 MYO7A C>G	11	76905391	76905391	C	G	MYO7A	c.4153-8C>G	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76905391C>G	(Likely) benign	1 lab	c5aecdfc6e
2:179544699 TTN C>G	2	179544699	179544699	C	G	TTN	c.33502G>C	NM_001267550.2	NP_001254479.2:p.(Glu11168Gln)	NC_000002.11:g.179544699C>G	VUS	1 lab	c5b2dbbfab
2:1440083 TPO A>C	2	1440083	1440083	A	C	TPO	c.409A>C	NM_001206744.2	NP_001193673.1:p.(Met137Leu)	NC_000002.11:g.1440083A>C	VUS	1 lab	c5b3b0138e
4:114279818 ANK2 C>G	4	114279818	114279818	C	G	ANK2	c.10044C>G	NM_001148.6	NP_001139.3:p.(Leu3348=)	NC_000004.11:g.114279818C>G	(Likely) benign	1 lab	c5b9b9ac27
2:21245329 APOB G>T	2	21245329	21245329	G	T	APOB	c.2816+374C>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21245329G>T	(Likely) benign	1 lab	c5bb166823
17:75484073 SEPTIN9 T>C	17	75484073	75484073	T	C	SEPTIN9	c.989-249T>C	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484073T>C	(Likely) benign	1 lab	c5be64d454
12:21355574 SLCO1B1 C>CTTGTTT	12	21355574	21355576	C	CTTGTTT	SLCO1B1	c.1286_1287insTGTTTT	NM_006446.5	NP_006437.3:p.(Leu429_Cys430insValPhe)	NC_000012.11:g.21355575_21355576insTGTTTT	(Likely) benign	1 lab	c5c783f355
1:237947377 RYR2 C>T	1	237947377	237947377	C	T	RYR2	c.12365C>T	NM_001035.3	NP_001026.2:p.(Ala4122Val)	NC_000001.10:g.237947377C>T	VUS	1 lab	c5cc2b444d
1:236914389 ACTN2 CAAAAA>C	1	236914389	236914415	CAAAAA	C	ACTN2	c.1657-359_1657-355del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236914411_236914415del	(Likely) benign	1 lab	c5d03a7412
17:37822044 TCAP G>A	17	37822044	37822044	G	A	TCAP	c.186G>A	NM_003673.4	NP_003664.1:p.(Gln62=)	NC_000017.10:g.37822044G>A	(Likely) benign	1 lab	c5d2633ca4
6:42689554 PRPH2 G>C	6	42689554	42689554	G	C	PRPH2	c.519C>G	NM_000322.5	NP_000313.2:p.(Asp173Glu)	NC_000006.11:g.42689554G>C	VUS	1 lab	c5d2fc3078
11:116701581 APOC3 G>A	11	116701581	116701581	G	A	APOC3	c.148G>A	NM_000040.3	NP_000031.1:p.(Val50Met)	NC_000011.9:g.116701581G>A	VUS	1 lab	c5d3163459
2:179417268 TTN A>G	2	179417268	179417268	A	G	TTN	c.90359T>C	NM_001267550.2	NP_001254479.2:p.(Ile30120Thr)	NC_000002.11:g.179417268A>G	VUS	1 lab	c5d66894e9
3:71050153 FOXP1 T>TTAC	3	71050153	71050155	T	TTAC	FOXP1	c.1031_1032insGTA	NM_001244808.3	NP_001231737.1:p.(Met345Ter)	NC_000003.11:g.71050154_71050155insACT	(Likely) pathogenic	1 lab	c5dbe5f236
10:69918336 MYPN G>A	10	69918336	69918336	G	A	MYPN	c.1411G>A	NM_032578.4	NP_115967.2:p.(Glu471Lys)	NC_000010.10:g.69918336G>A	VUS	1 lab	c5dc616ba7
12:111351038 MYL2 G>T	12	111351038	111351038	G	T	MYL2	c.353+12C>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111351038G>T	(Likely) benign	1 lab	c5df0fd8ef
2:21233604 APOB C>T	2	21233604	21233604	C	T	APOB	c.6136G>A	NM_000384.3	NP_000375.3:p.(Val2046Ile)	NC_000002.11:g.21233604C>T	(Likely) benign	1 lab	c5e67c73b4
15:71507604 THSD4 G>C	15	71507604	71507604	G	C	THSD4	c.330G>C	NM_024817.2	NP_079093.2:p.(Thr110=)	NC_000015.9:g.71507604G>C	(Likely) benign	1 lab	c5e8c27eb0
7:138546168 KIAA1549 G>A	7	138546168	138546168	G	A	KIAA1549	c.4964C>T	NM_001164665.2	NP_001158137.1:p.(Pro1655Leu)	NC_000007.13:g.138546168G>A	(Likely) benign	1 lab	c5e942686d
2:233349588 ECEL1 G>A	2	233349588	233349588	G	A	ECEL1	c.982C>T	NM_004826.4	NP_004817.2:p.(His328Tyr)	NC_000002.11:g.233349588G>A	(Likely) benign	1 lab	c5ea852028
2:179463941 TTN A>G	2	179463941	179463941	A	G	TTN	c.56579T>C	NM_001267550.2	NP_001254479.2:p.(Met18860Thr)	NC_000002.11:g.179463941A>G	VUS	1 lab	c5ed835cf1
2:21256234 APOB T>C	2	21256234	21256234	T	C	APOB	c.1061A>G	NM_000384.3	NP_000375.3:p.(Glu354Gly)	NC_000002.11:g.21256234T>C	VUS	1 lab	c5fb09e22d
1:40778108 COL9A2 C>T	1	40778108	40778108	C	T	COL9A2	c.363+20G>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40778108C>T	(Likely) benign	1 lab	c5fd6e8e8e
2:179549482 TTN A>G	2	179549482	179549482	A	G	TTN	c.32555-6T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179549482A>G	(Likely) benign	1 lab	c5fe27e961
18:6961771 LAMA1 G>A	18	6961771	6961771	G	A	LAMA1	c.7453-13C>T	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6961771G>A	(Likely) benign	1 lab	c600be85a9
11:68191378 LRP5 G>C	11	68191378	68191378	G	C	LRP5	c.3236+213G>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68191378G>C	(Likely) benign	1 lab	c600dc0c79
9:135204977 SETX CATT>C	9	135204977	135204983	CATT	C	SETX	c.2005_2007del	NM_015046.7	NP_055861.3:p.(Asn669del)	NC_000009.11:g.135204981_135204983del	(Likely) benign	1 lab	c6023477b0
10:112540570 RBM20 T>C	10	112540570	112540570	T	C	RBM20	c.203T>C	NM_001134363.3	NP_001127835.2:p.(Leu68Pro)	NC_000010.10:g.112540570T>C	VUS	1 lab	c6028db0e1
14:102446716 DYNC1H1 C>G	14	102446716	102446716	C	G	DYNC1H1	c.790C>G	NM_001376.5	NP_001367.2:p.(Arg264Gly)	NC_000014.8:g.102446716C>G	(Likely) pathogenic	1 lab	c6049352d1
2:179610740 TTN T>G	2	179610740	179610740	T	G	TTN	c.16387A>C	NM_133379.5	NP_596870.2:p.(Ile5463Leu)	NC_000002.11:g.179610740T>G	(Likely) benign	1 lab	c604b60ead
2:179612572 TTN T>C	2	179612572	179612572	T	C	TTN	c.14555A>G	NM_133379.5	NP_596870.2:p.(His4852Arg)	NC_000002.11:g.179612572T>C	VUS	1 lab	c607cced00
19:11224375 LDLR G>A	19	11224375	11224375	G	A	LDLR	c.1523G>A	NM_000527.5	NP_000518.1:p.(Arg508Lys)	NC_000019.9:g.11224375G>A	VUS	1 lab	c60bf68976
8:120715244 MISSING A>Alt too long to show for this DUP	8	120715244	120941857	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.120715245_120941857dup	VUS	1 lab	c622b1786c
2:21260024 APOB C>A	2	21260024	21260024	C	A	APOB	c.641G>T	NM_000384.3	NP_000375.3:p.(Arg214Leu)	NC_000002.11:g.21260024C>A	VUS	1 lab	c625ff004e
10:90988128 LIPA T>C	10	90988128	90988128	T	C	LIPA	c.257A>G	NM_000235.4	NP_000226.2:p.(His86Arg)	NC_000010.10:g.90988128T>C	VUS	1 lab	c627aa3fda
1:55518070 PCSK9 C>A	1	55518070	55518070	C	A	PCSK9	c.643C>A	NM_174936.4	NP_777596.2:p.(Arg215Ser)	NC_000001.10:g.55518070C>A	(Likely) pathogenic	1 lab	c628dd4147
16:29624564 MISSING Ref too long to show for this DEL>A	16	29624564	30198753	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29624565_30198753del	(Likely) pathogenic	1 lab	c6295c1d08
19:36211499 KMT2B T>C	19	36211499	36211499	T	C	KMT2B	c.1250T>C	NM_014727.3	NP_055542.1:p.(Leu417Pro)	NC_000019.9:g.36211499T>C	(Likely) benign	1 lab	c62db20205
11:27695830 BDNF A>T	11	27695830	27695830	A	T	BDNF	c.-21-15698T>A	NM_001143805.1	NP_001137277.1:p.?	NC_000011.9:g.27695830A>T	VUS	1 lab	c62ec031ed
2:21224796 APOB G>A	2	21224796	21224796	G	A	APOB	c.13498C>T	NM_000384.3	NP_000375.3:p.(Gln4500Ter)	NC_000002.11:g.21224796G>A	(Likely) pathogenic	1 lab	c63765acf4
12:57909014 MARS1 G>A	12	57909014	57909014	G	A	MARS1	c.2286G>A	NM_004990.4	NP_004981.2:p.(Thr762=)	NC_000012.11:g.57909014G>A	VUS	1 lab	c6393a7d5f
20:21112818 KIZ G>A	20	21112818	21112818	G	A	KIZ	c.152+18G>A	NM_018474.6	NP_060944.3:p.?	NC_000020.10:g.21112818G>A	(Likely) benign	1 lab	c6394ec93b
6:16143364 MYLIP G>T	6	16143364	16143364	G	T	MYLIP	c.578G>T	NM_013262.4	NP_037394.2:p.(Arg193Leu)	NC_000006.11:g.16143364G>T	VUS	1 lab	c639c9af8c
17:45232080 CDC27 A>C	17	45232080	45232080	A	C	CDC27	c.915T>G	NM_001114091.4	NP_001107563.1:p.(Pro305=)	NC_000017.10:g.45232080A>C	(Likely) benign	1 lab	c639d35421
15:45394404 MISSING C>Alt too long to show for this DUP	15	45394404	45432150	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.45394407_45432150dup	VUS	1 lab	c63bd4bcbb
19:17994645 SLC5A5 G>T	19	17994645	17994645	G	T	SLC5A5	c.1330-14G>T	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17994645G>T	(Likely) benign	1 lab	c63eabb9a2
3:100951639 IMPG2 G>A	3	100951639	100951639	G	A	IMPG2	c.3219C>T	NM_016247.4	NP_057331.2:p.(His1073=)	NC_000003.11:g.100951639G>A	(Likely) benign	1 lab	c641ede37b
2:21232455 APOB A>C	2	21232455	21232455	A	C	APOB	c.7285T>G	NM_000384.3	NP_000375.3:p.(Ser2429Ala)	NC_000002.11:g.21232455A>C	VUS	1 lab	c644b8aeb4
13:49034022 RB1 A>ATTTCTTTCT	13	49034022	49034025	A	ATTTCTTTCT	RB1	c.2106+55_2106+56insTCTTTCTTT	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49034024_49034025insTCTTTCTTT	(Likely) benign	1 lab	c644e32515
Y:9325795 MISSING A>Alt too long to show for this DUP	Y	9325795	9330535	A	Alt too long to show for this DUP	MISSING				NC_000024.9:g.9325796_9330535dup	(Likely) pathogenic	1 lab	c6480a47c4
7:128498101 FLNC C>A	7	128498101	128498101	C	A	FLNC	c.7820C>A	NM_001458.5	NP_001449.3:p.(Ser2607Tyr)	NC_000007.13:g.128498101C>A	VUS	1 lab	c64d4edc60
9:107581168 ABCA1 C>A	9	107581168	107581168	C	A	ABCA1	c.3242-4G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107581168C>A	VUS	1 lab	c64f58fa9b
8:19796855 LPL G>A	8	19796855	19796855	G	A	LPL	c.-97G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796855G>A	(Likely) benign	1 lab	c652beceee
2:179500748 TTN G>A	2	179500748	179500748	G	A	TTN	c.41550C>T	NM_001267550.2	NP_001254479.2:p.(Tyr13850=)	NC_000002.11:g.179500748G>A	(Likely) benign	1 lab	c6566d38f4
5:132232750 AFF4 C>A	5	132232750	132232750	C	A	AFF4	c.1572G>T	NM_014423.4	NP_055238.1:p.(Thr524=)	NC_000005.9:g.132232750C>A	(Likely) benign	1 lab	c65abbd9f0
2:21231079 APOB A>G	2	21231079	21231079	A	G	APOB	c.8661T>C	NM_000384.3	NP_000375.3:p.(Thr2887=)	NC_000002.11:g.21231079A>G	(Likely) benign	1 lab	c65b195248
8:30954278 WRN T>TTTTA	8	30954278	30954280	T	TTTTA	WRN	c.1899-5_1899-4insTTAT	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954279_30954280insTTAT	(Likely) benign	1 lab	c65c0f56cd
7:151372636 PRKAG2 T>A	7	151372636	151372636	T	A	PRKAG2	c.554A>T	NM_016203.4	NP_057287.2:p.(Glu185Val)	NC_000007.13:g.151372636T>A	VUS	1 lab	c66af36db9
6:32009539 TNXB A>C	6	32009539	32009539	A	C	TNXB	c.12627+9T>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009539A>C	(Likely) benign	1 lab	c6772ccbfb
2:220347909 SPEG G>T	2	220347909	220347909	G	T	SPEG	c.5724G>T	NM_005876.5	NP_005867.3:p.(Met1908Ile)	NC_000002.11:g.220347909G>T	VUS	1 lab	c67a9cb244
8:145001509 PLEC T>C	8	145001509	145001509	T	C	PLEC	c.4168-6A>G	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145001509T>C	(Likely) benign	1 lab	c682dc5c67
5:716921 ZDHHC11B Ref too long to show for this DEL>T	5	716921	745414	Ref too long to show for this DEL	T	ZDHHC11B	c.787_*1del	NM_001351303.2	NP_001338232.1:p.(Ala263IlefsTer15)	NC_000005.9:g.716925_745414del	(Likely) pathogenic	1 lab	c685c18062
2:21228929 APOB G>T	2	21228929	21228929	G	T	APOB	c.10811C>A	NM_000384.3	NP_000375.3:p.(Ala3604Glu)	NC_000002.11:g.21228929G>T	VUS	1 lab	c68abefa42
7:1781540 MISSING Ref too long to show for this DEL>A	7	1781540	1828038	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.1781541_1828038del	VUS	1 lab	c68cc6d1d2
11:117257984 CEP164 A>AGGCAGTGG	11	117257984	117257992	A	AGGCAGTGG	CEP164	c.1791_1798dup	NM_014956.5	NP_055771.4:p.(Ala600GlyfsTer51)	NC_000011.9:g.117257985_117257992dup	(Likely) pathogenic	1 lab	c68da81d6b
11:117222494 CEP164 G>GC	11	117222494	117222497	G	GC	CEP164	c.195-9dup	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117222497dup	(Likely) benign	1 lab	c692aabd2a
2:21233272 APOB T>C	2	21233272	21233272	T	C	APOB	c.6468A>G	NM_000384.3	NP_000375.3:p.(Ile2156Met)	NC_000002.11:g.21233272T>C	VUS	1 lab	c69b9f5db6
14:21448033 MISSING Ref too long to show for this DEL>G	14	21448033	23237648	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.21448036_23237648del	(Likely) pathogenic	1 lab	c69d2dcbf8
12:48380660 COL2A1 A>AC	12	48380660	48380662	A	AC	COL2A1	c.1376dup	NM_001844.5	NP_001835.3:p.(Ile460TyrfsTer7)	NC_000012.11:g.48380662dup	(Likely) pathogenic	1 lab	c69e3d30c2
19:11217618 LDLR C>T	19	11217618	11217618	C	T	LDLR	c.817+255C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217618C>T	(Likely) benign	1 lab	c6a887ee8a
18:46570436 DYM C>A	18	46570436	46570436	C	A	DYM	c.1999G>T	NM_017653.6	NP_060123.3:p.(Asp667Tyr)	NC_000018.9:g.46570436C>A	VUS	1 lab	c6b28e4116
X:108868218 KCNE5 G>A	X	108868218	108868218	G	A	KCNE5	c.32C>T	NM_012282.4	NP_036414.1:p.(Thr11Ile)	NC_000023.10:g.108868218G>A	VUS	1 lab	c6b4bbe59c
4:100503248 MTTP C>T	4	100503248	100503248	C	T	MTTP	c.248C>T	NM_000253.4	NP_000244.2:p.(Thr83Met)	NC_000004.11:g.100503248C>T	VUS	1 lab	c6b597dd6c
22:38541500 PLA2G6 G>A	22	38541500	38541500	G	A	PLA2G6	c.370C>T	NM_003560.4	NP_003551.2:p.(His124Tyr)	NC_000022.10:g.38541500G>A	VUS	1 lab	c6b5d40425
X:100492773 DRP2 G>A	X	100492773	100492773	G	A	DRP2	c.438+9G>A	NM_001939.3	NP_001930.2:p.?	NC_000023.10:g.100492773G>A	(Likely) benign	1 lab	c6b8e73880
8:133980070 TG C>T	8	133980070	133980070	C	T	TG	c.5718C>T	NM_003235.5	NP_003226.4:p.(Leu1906=)	NC_000008.10:g.133980070C>T	(Likely) benign	1 lab	c6bccbea5a
19:11238877 LDLR G>A	19	11238877	11238877	G	A	LDLR	c.2389+116G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238877G>A	(Likely) benign	1 lab	c6c4490e60
6:32036357 TNXB G>A	6	32036357	32036357	G	A	TNXB	c.6030C>T	NM_019105.8	NP_061978.6:p.(Pro2010=)	NC_000006.11:g.32036357G>A	(Likely) benign	1 lab	c6c5e48548
7:128483166 FLNC T>G	7	128483166	128483166	T	G	FLNC	c.2551-117T>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128483166T>G	(Likely) benign	1 lab	c6d3fa5444
2:179466262 TTN-AS1 CTT>C	2	179466262	179466265	CTT	C	TTN-AS1	n.3917+870_3917+871del	NR_038272.1		NC_000002.11:g.179466264_179466265del	(Likely) benign	1 lab	c6d8b74bbb
X:110987996 ALG13 ACCTCCT>A	X	110987996	110988035	ACCTCCT	A	ALG13	c.2830_2835del	NM_001099922.3	NP_001093392.1:p.(Pro944_Pro945del)	NC_000023.10:g.110988030_110988035del	(Likely) benign	1 lab	c6def38ddf
4:114269480 ANK2 T>C	4	114269480	114269480	T	C	ANK2	c.4404+16T>C	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114269480T>C	(Likely) benign	1 lab	c6e2ee2fd2
15:48807599 FBN1 G>A	15	48807599	48807599	G	A	FBN1	c.1453C>T	NM_000138.5	NP_000129.3:p.(Arg485Cys)	NC_000015.9:g.48807599G>A	(Likely) pathogenic	1 lab	c6e714ea60
2:21238051 APOB A>G	2	21238051	21238051	A	G	APOB	c.3590T>C	NM_000384.3	NP_000375.3:p.(Leu1197Pro)	NC_000002.11:g.21238051A>G	(Likely) benign	1 lab	c6e7da11bf
5:131927550 RAD50 A>AT	5	131927550	131927560	A	AT	RAD50	c.1636-9dup	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131927560dup	(Likely) benign	1 lab	c6e963cdfd
1:55509509 PCSK9 G>A	1	55509509	55509509	G	A	PCSK9	c.208-7G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55509509G>A	VUS	1 lab	c6eb5dbc18
5:112173342 APC T>C	5	112173342	112173342	T	C	APC	c.2051T>C	NM_000038.6	NP_000029.2:p.(Leu684Ser)	NC_000005.9:g.112173342T>C	VUS	1 lab	c6ec87c7c7
10:266198 MISSING Ref too long to show for this DEL>C	10	266198	356629	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.266200_356629del	(Likely) pathogenic	1 lab	c6ece49913
16:67973896 LCAT C>T	16	67973896	67973896	C	T	LCAT	c.1234G>A	NM_000229.2	NP_000220.1:p.(Glu412Lys)	NC_000016.9:g.67973896C>T	VUS	1 lab	c6ee5031c2
9:67926890 ANKRD20A1 C>T	9	67926890	67926890	C	T	ANKRD20A1	c.18C>T	NM_032250.5	NP_115626.2:p.(Phe6=)	NC_000009.11:g.67926890C>T	(Likely) benign	1 lab	c6ef76319c
12:33031094 PKP2 C>T	12	33031094	33031094	C	T	PKP2	c.720G>A	NM_004572.4	NP_004563.2:p.(Leu240=)	NC_000012.11:g.33031094C>T	(Likely) benign	1 lab	c6efaad4f4
15:22770419 MISSING Ref too long to show for this DEL>A	15	22770419	23283812	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770423_23283812del	(Likely) pathogenic	1 lab	c6efed48f7
3:53529175 CACNA1D G>A	3	53529175	53529175	G	A	CACNA1D	c.-19G>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53529175G>A	(Likely) benign	1 lab	c6f9339a2c
5:95734586 PCSK1 C>T	5	95734586	95734586	C	T	PCSK1	c.1585G>A	NM_000439.5	NP_000430.3:p.(Ala529Thr)	NC_000005.9:g.95734586C>T	VUS	1 lab	c6f9c23629
2:179474533 TTN G>T	2	179474533	179474533	G	T	TTN	c.51617C>A	NM_001267550.2	NP_001254479.2:p.(Thr17206Asn)	NC_000002.11:g.179474533G>T	VUS	1 lab	c6fe46f573
7:154587740 DPP6 A>G	7	154587740	154587740	A	G	DPP6	c.1254A>G	NM_001364501.2	NP_001351430.1:p.(Pro418=)	NC_000007.13:g.154587740A>G	(Likely) benign	1 lab	c707d64b39
16:986172 LMF1 G>A	16	986172	986172	G	A	LMF1	c.-51-1918C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.986172G>A	(Likely) benign	1 lab	c70abd827e
19:1221319 STK11 C>T	19	1221319	1221319	C	T	STK11	c.842C>T	NM_000455.5	NP_000446.1:p.(Pro281Leu)	NC_000019.9:g.1221319C>T	(Likely) benign	1 lab	c70af3fa7f
6:147137922 MISSING Ref too long to show for this DEL>C	6	147137922	147183885	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.147137923_147183885del	VUS	1 lab	c7127161ba
15:72030111 THSD4 C>T	15	72030111	72030111	C	T	THSD4	c.1671C>T	NM_024817.2	NP_079093.2:p.(Ser557=)	NC_000015.9:g.72030111C>T	(Likely) benign	1 lab	c7136f4194
1:64125234 PGM1 G>T	1	64125234	64125234	G	T	PGM1	c.1654-23G>T	NM_001172818.1	NP_001166289.1:p.?	NC_000001.10:g.64125234G>T	(Likely) benign	1 lab	c715dab776
18:29126475 DSG2 GA>G	18	29126475	29126477	GA	G	DSG2	c.3128del	NM_001943.5	NP_001934.2:p.(Asn1043MetfsTer2)	NC_000018.9:g.29126477del	(Likely) pathogenic	1 lab	c7197b6a1f
15:58834789 LIPC A>G	15	58834789	58834789	A	G	LIPC	c.513A>G	NM_000236.3	NP_000227.2:p.(Ala171=)	NC_000015.9:g.58834789A>G	VUS	1 lab	c71f3449fb
11:130652041 MISSING T>Alt too long to show for this DUP	11	130652041	131311970	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.130652044_131311970dup	VUS	1 lab	c71fd50663
1:6149053 KCNAB2 C>T	1	6149053	6149053	C	T	KCNAB2	c.471-15C>T	NM_001199862.2	NP_001186791.1:p.?	NC_000001.10:g.6149053C>T	(Likely) benign	1 lab	c84496fc45
8:117864952 RAD21 T>TAA	8	117864952	117864966	T	TAA	RAD21	c.1162-7_1162-6dup	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117864965_117864966dup	(Likely) benign	1 lab	c7206d7b89
16:29421693 MISSING Ref too long to show for this DEL>A	16	29421693	30330882	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29421695_30330882del	(Likely) pathogenic	1 lab	c72b4bb620
16:81388241 GAN G>C	16	81388241	81388241	G	C	GAN	c.514G>C	NM_022041.4	NP_071324.1:p.(Glu172Gln)	NC_000016.9:g.81388241G>C	VUS	1 lab	c72b9eb6a0
11:1017508 MUC6 A>C	11	1017508	1017508	A	C	MUC6	c.5293T>G	NM_005961.3	NP_005952.2:p.(Ser1765Ala)	NC_000011.9:g.1017508A>C	(Likely) benign	1 lab	c731905364
2:208632227 FZD5 G>A	2	208632227	208632227	G	A	FZD5	c.1237C>T	NM_003468.4	NP_003459.2:p.(Leu413=)	NC_000002.11:g.208632227G>A	(Likely) benign	1 lab	c731db6124
4:175414202 HPGD C>T	4	175414202	175414202	C	T	HPGD	c.662+100G>A	NM_000860.6	NP_000851.2:p.?	NC_000004.11:g.175414202C>T	(Likely) benign	1 lab	c7345cbd7c
2:21229942 APOB C>G	2	21229942	21229942	C	G	APOB	c.9798G>C	NM_000384.3	NP_000375.3:p.(Glu3266Asp)	NC_000002.11:g.21229942C>G	VUS	1 lab	c734d7caf5
2:47641586 MSH2 A>G	2	47641586	47641586	A	G	MSH2	c.942+29A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641586A>G	(Likely) benign	1 lab	c73548b645
X:48760295 PQBP1 G>A	X	48760295	48760295	G	A	PQBP1	c.732G>A	NM_005710.2	NP_005701.1:p.(Pro244=)	NC_000023.10:g.48760295G>A	(Likely) benign	1 lab	c7392e2f02
4:100542322 MTTP C>T	4	100542322	100542322	C	T	MTTP	c.2447C>T	NM_000253.4	NP_000244.2:p.(Thr816Ile)	NC_000004.11:g.100542322C>T	VUS	1 lab	c73995316e
19:11230337 LDLR C>CA	19	11230337	11230347	C	CA	LDLR	c.1846-421dup	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230347dup	(Likely) benign	1 lab	c73c0824c3
6:160168970 MISSING A>Alt too long to show for this DUP	6	160168970	160225790	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.160168973_160225790dup	(Likely) pathogenic	1 lab	c73c32e73e
22:41201898 MISSING G>Alt too long to show for this DUP	22	41201898	41551884	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.41201899_41551884dup	VUS	1 lab	c7414d0778
4:100503173 MTTP G>A	4	100503173	100503173	G	A	MTTP	c.173G>A	NM_000253.4	NP_000244.2:p.(Arg58His)	NC_000004.11:g.100503173G>A	VUS	1 lab	c741df28fa
3:170198595 SLC7A14 A>G	3	170198595	170198595	A	G	SLC7A14	c.1476T>C	NM_020949.3	NP_066000.2:p.(Asn492=)	NC_000003.11:g.170198595A>G	(Likely) benign	1 lab	c745acb0bd
12:124333351 DNAH10 T>C	12	124333351	124333351	T	C	DNAH10	c.5670T>C	NM_207437.3	NP_997320.2:p.(Asp1890=)	NC_000012.11:g.124333351T>C	(Likely) benign	1 lab	c74c919a76
11:76891406 MYO7A C>T	11	76891406	76891406	C	T	MYO7A	c.2587-14C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76891406C>T	(Likely) benign	1 lab	c74e99f0cb
7:91603265 AKAP9 C>G	7	91603265	91603265	C	G	AKAP9	c.289C>G	NM_005751.5	NP_005742.4:p.(Gln97Glu)	NC_000007.13:g.91603265C>G	VUS	1 lab	c7501739c6
18:47113476 LIPG TA>T	18	47113476	47113493	TA	T	LIPG	c.1481+273del	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47113493del	(Likely) benign	1 lab	c754e85ecb
16:15814685 MYH11 G>C	16	15814685	15814685	G	C	MYH11	c.4791+11C>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15814685G>C	(Likely) benign	1 lab	c755978b84
2:21233056 APOB A>G	2	21233056	21233056	A	G	APOB	c.6684T>C	NM_000384.3	NP_000375.3:p.(Asp2228=)	NC_000002.11:g.21233056A>G	(Likely) benign	1 lab	c7592bd09e
2:44099168 ABCG8 G>A	2	44099168	44099168	G	A	ABCG8	c.1018G>A	NM_022437.3	NP_071882.1:p.(Glu340Lys)	NC_000002.11:g.44099168G>A	VUS	1 lab	c75ac95e32
8:43046610 HGSNAT C>T	8	43046610	43046610	C	T	HGSNAT	c.1129-7C>T	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43046610C>T	(Likely) benign	1 lab	c75d483ed6
7:128487791 FLNC T>TGGGAAGGTGAAGTGCTCAGGGACAG	7	128487791	128487813	T	TGGGAAGGTGAAGTGCTCAGGGACAG	FLNC	c.4350_4351insACAGGGGAAGGTGAAGTGCTCAGGG	NM_001458.5	NP_001449.3:p.(Pro1451ThrfsTer68)	NC_000007.13:g.128487812_128487813insACAGGGGAAGGTGAAGTGCTCAGGG	(Likely) pathogenic	1 lab	c769aa8572
2:189839521 COL3A1 G>T	2	189839521	189839521	G	T	COL3A1	c.79+227G>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189839521G>T	(Likely) benign	1 lab	c76bae91cc
1:69897 OR4F5 T>C	1	69897	69897	T	C	OR4F5	c.870T>C	NM_001005484.2	NP_001005484.2:p.(Ser290=)	NC_000001.10:g.69897T>C	(Likely) benign	1 lab	c772cb21f9
3:37045873 MLH1 A>G	3	37045873	37045873	A	G	MLH1	c.307-19A>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37045873A>G	(Likely) benign	1 lab	c775b5ca36
15:58853075 LIPC A>G	15	58853075	58853075	A	G	LIPC	c.1064A>G	NM_000236.3	NP_000227.2:p.(Gln355Arg)	NC_000015.9:g.58853075A>G	VUS	1 lab	c78006cbf1
X:6040105 MISSING A>Alt too long to show for this DUP	X	6040105	6455277	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.6040107_6455277dup	VUS	1 lab	c78329441d
16:920416 LMF1 T>C	16	920416	920416	T	C	LMF1	c.1232+313A>G	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.920416T>C	(Likely) benign	1 lab	c7951794cd
1:213061276 FLVCR1 G>A	1	213061276	213061276	G	A	FLVCR1	c.1240G>A	NM_014053.4	NP_054772.1:p.(Val414Ile)	NC_000001.10:g.213061276G>A	VUS	1 lab	c7962e2e4a
9:107554237 ABCA1 C>T	9	107554237	107554237	C	T	ABCA1	c.5800G>A	NM_005502.4	NP_005493.2:p.(Val1934Met)	NC_000009.11:g.107554237C>T	VUS	1 lab	c7979b9718
2:44040353 ABCG5 A>C	2	44040353	44040353	A	C	ABCG5	c.1858T>G	NM_022436.3	NP_071881.1:p.(Phe620Val)	NC_000002.11:g.44040353A>C	VUS	1 lab	c79968bb74
21:34927065 SON C>G	21	34927065	34927065	C	G	SON	c.5528C>G	NM_138927.4	NP_620305.3:p.(Ser1843Cys)	NC_000021.8:g.34927065C>G	VUS	1 lab	c79bfcd338
13:35926359 NBEA T>A	13	35926359	35926359	T	A	NBEA	c.6078T>A	NM_015678.5	NP_056493.3:p.(Ser2026Arg)	NC_000013.10:g.35926359T>A	VUS	1 lab	c79c2a4d46
7:151816455 MISSING T>Alt too long to show for this DUP	7	151816455	152093716	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.151816456_152093716dup	VUS	1 lab	c7ab124fb7
16:31196415 FUS G>A	16	31196415	31196415	G	A	FUS	c.679G>A	NM_004960.4	NP_004951.1:p.(Gly227Ser)	NC_000016.9:g.31196415G>A	VUS	1 lab	c7ab1c3aa3
15:29288684 MISSING T>Alt too long to show for this DUP	15	29288684	29476889	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.29288685_29476889dup	VUS	1 lab	c7b0188554
1:24147035 HMGCL C>A	1	24147035	24147035	C	A	HMGCL	c.109G>T	NM_000191.3	NP_000182.2:p.(Glu37Ter)	NC_000001.10:g.24147035C>A	(Likely) pathogenic	1 lab	c7b5b7babc
19:42492156 ATP1A3 C>A	19	42492156	42492156	C	A	ATP1A3	c.328G>T	NM_001256214.2	NP_001243143.1:p.(Gly110Trp)	NC_000019.9:g.42492156C>A	VUS	1 lab	c7be627b62
16:23641027 PALB2 G>C	16	23641027	23641027	G	C	PALB2	c.2448C>G	NM_024675.4	NP_078951.2:p.(Phe816Leu)	NC_000016.9:g.23641027G>C	VUS	1 lab	c7bf6a3e3e
11:65313894 LTBP3 C>G	11	65313894	65313894	C	G	LTBP3	c.2353+19G>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65313894C>G	(Likely) benign	1 lab	c7bfe53b0f
2:1520740 TPO G>A	2	1520740	1520740	G	A	TPO	c.2604G>A	NM_001206744.2	NP_001193673.1:p.(Thr868=)	NC_000002.11:g.1520740G>A	(Likely) benign	1 lab	c7c097b8ba
14:105169721 INF2 C>T	14	105169721	105169721	C	T	INF2	c.597C>T	NM_022489.4	NP_071934.3:p.(Ser199=)	NC_000014.8:g.105169721C>T	(Likely) benign	1 lab	c7c6660bf3
12:59282702 LRIG3 T>C	12	59282702	59282702	T	C	LRIG3	c.702A>G	NM_153377.5	NP_700356.2:p.(Thr234=)	NC_000012.11:g.59282702T>C	(Likely) benign	1 lab	c7c8ddf205
14:23863384 MYH6 G>A	14	23863384	23863384	G	A	MYH6	c.2578C>T	NM_002471.4	NP_002462.2:p.(Arg860Cys)	NC_000014.8:g.23863384G>A	VUS	1 lab	c7c9ec16eb
6:99912463 USP45 G>A	6	99912463	99912463	G	A	USP45	c.228+17C>T	NM_001346029.3	NP_001332958.1:p.?	NC_000006.11:g.99912463G>A	(Likely) benign	1 lab	c7d1223ed8
5:73048819 ARHGEF28 G>A	5	73048819	73048819	G	A	ARHGEF28	c.267G>A	NM_001080479.3	NP_001073948.2:p.(Val89=)	NC_000005.9:g.73048819G>A	(Likely) benign	1 lab	c7d54a99ea
13:32912619 BRCA2 G>C	13	32912619	32912619	G	C	BRCA2	c.4127G>C	NM_000059.4	NP_000050.3:p.(Gly1376Ala)	NC_000013.10:g.32912619G>C	(Likely) benign	1 lab	c7d8f922b2
1:185934992 HMCN1 C>T	1	185934992	185934992	C	T	HMCN1	c.2157C>T	NM_031935.3	NP_114141.2:p.(Thr719=)	NC_000001.10:g.185934992C>T	(Likely) benign	1 lab	c7e06252dc
10:32329601 KIF5B T>C	10	32329601	32329601	T	C	KIF5B	c.215-216A>G	NM_004521.3	NP_004512.1:p.?	NC_000010.10:g.32329601T>C	(Likely) benign	1 lab	c7e41c4f66
8:22064355 BMP1 G>A	8	22064355	22064355	G	A	BMP1	c.2234-12G>A	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22064355G>A	(Likely) benign	1 lab	c7f1847188
1:63068007 ANGPTL3 A>G	1	63068007	63068007	A	G	ANGPTL3	c.887A>G	NM_014495.4	NP_055310.1:p.(Asn296Ser)	NC_000001.10:g.63068007A>G	VUS	1 lab	c7f37214ae
8:22067112 BMP1 G>A	8	22067112	22067112	G	A	BMP1	c.2730G>A	NM_006129.5	NP_006120.1:p.(Glu910=)	NC_000008.10:g.22067112G>A	(Likely) benign	1 lab	c7f824de57
2:179476323 TTN T>TTCTC	2	179476323	179476328	T	TTCTC	TTN	c.50629_50632dup	NM_001267550.2	NP_001254479.2:p.(Lys16878ArgfsTer14)	NC_000002.11:g.179476325_179476328dup	(Likely) pathogenic	1 lab	c8034fe776
16:28777218 MISSING Ref too long to show for this DEL>G	16	28777218	29051192	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.28777220_29051192del	(Likely) pathogenic	1 lab	c80456f30b
3:30691870 TGFBR2 G>A	3	30691870	30691870	G	A	TGFBR2	c.447G>A	NM_001024847.2	NP_001020018.1:p.(Lys149=)	NC_000003.11:g.30691870G>A	(Likely) benign	1 lab	c804bcb4b6
4:114176976 ANK2 A>C	4	114176976	114176976	A	C	ANK2	c.1076A>C	NM_001148.6	NP_001139.3:p.(Asp359Ala)	NC_000004.11:g.114176976A>C	VUS	1 lab	c805a4a16e
8:38271254 FGFR1 C>T	8	38271254	38271254	C	T	FGFR1	c.2331G>A	NM_001174064.2	NP_001167535.1:p.(Thr777=)	NC_000008.10:g.38271254C>T	(Likely) benign	1 lab	c80cc1c73a
7:128607384 TNPO3 G>A	7	128607384	128607384	G	A	TNPO3	c.2661C>T	NM_012470.4	NP_036602.1:p.(Ala887=)	NC_000007.13:g.128607384G>A	(Likely) benign	1 lab	c80dc9710e
19:22171651 ZNF208 C>T	19	22171651	22171651	C	T	ZNF208	c.64G>A	NM_007153.3	NP_009084.2:p.(Asp22Asn)	NC_000019.9:g.22171651C>T	(Likely) benign	1 lab	c80ed0bc45
6:76663772 MISSING C>Alt too long to show for this DUP	6	76663772	76962906	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.76663773_76962906dup	VUS	1 lab	c810358cf8
3:38592895 SCN5A G>T	3	38592895	38592895	G	T	SCN5A	c.4968C>A	NM_198056.3	NP_932173.1:p.(Ala1656=)	NC_000003.11:g.38592895G>T	(Likely) benign	1 lab	c81400fe90
20:45003977 ELMO2 C>T	20	45003977	45003977	C	T	ELMO2	c.963G>A	NM_133171.5	NP_573403.1:p.(Arg321=)	NC_000020.10:g.45003977C>T	(Likely) benign	1 lab	c81be8ff56
2:179417969 TTN G>T	2	179417969	179417969	G	T	TTN	c.89658C>A	NM_001267550.2	NP_001254479.2:p.(Tyr29886Ter)	NC_000002.11:g.179417969G>T	(Likely) pathogenic	1 lab	c81db9278d
12:115120824 TBX3 G>T	12	115120824	115120824	G	T	TBX3	c.182C>A	NM_016569.4	NP_057653.3:p.(Ala61Asp)	NC_000012.11:g.115120824G>T	VUS	1 lab	c81f229012
2:25467483 DNMT3A G>A	2	25467483	25467483	G	A	DNMT3A	c.1593C>T	NM_022552.5	NP_072046.2:p.(Asp531=)	NC_000002.11:g.25467483G>A	(Likely) benign	1 lab	c823c6c0ec
2:179639092 TTN T>C	2	179639092	179639092	T	C	TTN	c.6899A>G	NM_001267550.2	NP_001254479.2:p.(Tyr2300Cys)	NC_000002.11:g.179639092T>C	VUS	1 lab	c823e17d8d
X:39933151 BCOR G>A	X	39933151	39933151	G	A	BCOR	c.1448C>T	NM_001123385.2	NP_001116857.1:p.(Pro483Leu)	NC_000023.10:g.39933151G>A	VUS	1 lab	c82511d9f7
13:101759961 NALCN C>T	13	101759961	101759961	C	T	NALCN	c.2457-1G>A	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101759961C>T	(Likely) pathogenic	1 lab	c82b1b9ffd
11:116706595 APOA1 CG>C	11	116706595	116706598	CG	C	APOA1	c.405del	NM_001318021.1	NP_001304950.1:p.(Val136CysfsTer10)	NC_000011.9:g.116706598del	(Likely) pathogenic	1 lab	c82c951533
20:31996582 SNTA1 G>A	20	31996582	31996582	G	A	SNTA1	c.1350C>T	NM_003098.3	NP_003089.1:p.(Phe450=)	NC_000020.10:g.31996582G>A	(Likely) benign	1 lab	c82f53f450
3:123333021 MYLK G>A	3	123333021	123333021	G	A	MYLK	c.5676C>T	NM_053025.4	NP_444253.3:p.(Thr1892=)	NC_000003.11:g.123333021G>A	(Likely) benign	1 lab	c834cd6852
2:44051239 ABCG5 C>A	2	44051239	44051239	C	A	ABCG5	c.1137G>T	NM_022436.3	NP_071881.1:p.(Leu379Phe)	NC_000002.11:g.44051239C>A	VUS	1 lab	c835c4a6bc
15:48784981 FBN1 A>C	15	48784981	48784981	A	C	FBN1	c.2729-198T>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48784981A>C	(Likely) benign	1 lab	c8364f7d0f
4:47944120 CNGA1 A>G	4	47944120	47944120	A	G	CNGA1	c.483T>C	NM_001142564.2	NP_001136036.2:p.(Tyr161=)	NC_000004.11:g.47944120A>G	(Likely) benign	1 lab	c836a485c0
2:44101229 ABCG8 A>G	2	44101229	44101229	A	G	ABCG8	c.1411+104A>G	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44101229A>G	(Likely) benign	1 lab	c837222cd5
12:32994035 PKP2 G>C	12	32994035	32994035	G	C	PKP2	c.1615C>G	NM_004572.4	NP_004563.2:p.(Pro539Ala)	NC_000012.11:g.32994035G>C	VUS	1 lab	c838084d54
9:130428502 STXBP1 T>C	9	130428502	130428502	T	C	STXBP1	c.721T>C	NM_003165.6	NP_003156.1:p.(Ser241Pro)	NC_000009.11:g.130428502T>C	(Likely) pathogenic	1 lab	c83dc58ac7
10:48389069 RBP3 G>A	10	48389069	48389069	G	A	RBP3	c.1809C>T	NM_002900.3	NP_002891.1:p.(Gly603=)	NC_000010.10:g.48389069G>A	(Likely) benign	1 lab	c845c3a9d5
10:104159906 NFKB2 C>T	10	104159906	104159906	C	T	NFKB2	c.1539C>T	NM_001288724.1	NP_001275653.1:p.(His513=)	NC_000010.10:g.104159906C>T	(Likely) benign	1 lab	c84e11d1c7
1:22418016 CDC42 T>C	1	22418016	22418016	T	C	CDC42	c.*6T>C	NM_001039802.2	NP_001034891.1:p.?	NC_000001.10:g.22418016T>C	(Likely) benign	1 lab	c854f8deab
12:125348138 SCARB1 C>A	12	125348138	125348138	C	A	SCARB1	c.126+3G>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125348138C>A	VUS	1 lab	c859674d79
20:2398004 TGM6 A>T	20	2398004	2398004	A	T	TGM6	c.1463A>T	NM_198994.3	NP_945345.2:p.(Glu488Val)	NC_000020.10:g.2398004A>T	VUS	1 lab	c85a939a9a
16:1020864 LMF1 G>T	16	1020864	1020864	G	T	LMF1	c.117C>A	NM_022773.4	NP_073610.2:p.(Gly39=)	NC_000016.9:g.1020864G>T	(Likely) benign	1 lab	c85c65636c
16:88808480 PIEZO1 G>A	16	88808480	88808480	G	A	PIEZO1	c.307C>T	NM_001142864.4	NP_001136336.2:p.(Arg103Ter)	NC_000016.9:g.88808480G>A	(Likely) pathogenic	1 lab	c85ca3ad6e
3:49760074 GMPPB G>C	3	49760074	49760074	G	C	GMPPB	c.516C>G	NM_013334.4	NP_037466.3:p.(Asn172Lys)	NC_000003.11:g.49760074G>C	VUS	1 lab	c85cf5ed72
X:153593313 FLNA C>T	X	153593313	153593313	C	T	FLNA	c.1704G>A	NM_001110556.2	NP_001104026.1:p.(Val568=)	NC_000023.10:g.153593313C>T	(Likely) benign	1 lab	c85d65e545
19:11222192 LDLR A>G	19	11222192	11222192	A	G	LDLR	c.1063A>G	NM_000527.5	NP_000518.1:p.(Ile355Val)	NC_000019.9:g.11222192A>G	(Likely) benign	1 lab	c85eba6ead
4:164050124 NAF1 T>G	4	164050124	164050124	T	G	NAF1	c.1410A>C	NM_138386.3	NP_612395.2:p.(Pro470=)	NC_000004.11:g.164050124T>G	(Likely) benign	1 lab	c865b1e973
1:150297334 PRPF3 C>CT	1	150297334	150297350	C	CT	PRPF3	c.-48-3dup	NM_004698.4	NP_004689.1:p.?	NC_000001.10:g.150297350dup	(Likely) benign	1 lab	c866694599
7:91641854 AKAP9 T>C	7	91641854	91641854	T	C	AKAP9	c.3430T>C	NM_005751.5	NP_005742.4:p.(Cys1144Arg)	NC_000007.13:g.91641854T>C	(Likely) benign	1 lab	c869b3997f
17:8926209 NTN1 C>T	17	8926209	8926209	C	T	NTN1	c.519C>T	NM_004822.3	NP_004813.2:p.(Pro173=)	NC_000017.10:g.8926209C>T	(Likely) benign	1 lab	c86a3942f6
11:116661777 APOA5 C>T	11	116661777	116661777	C	T	APOA5	c.168G>A	NM_052968.5	NP_443200.2:p.(Leu56=)	NC_000011.9:g.116661777C>T	(Likely) benign	1 lab	c872349a2c
5:130498322 HINT1 C>T	5	130498322	130498322	C	T	HINT1	c.159G>A	NM_005340.7	NP_005331.1:p.(Leu53=)	NC_000005.9:g.130498322C>T	(Likely) benign	1 lab	c87596702e
2:56108989 EFEMP1 C>T	2	56108989	56108989	C	T	EFEMP1	c.518-120G>A	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56108989C>T	(Likely) benign	1 lab	c8764977c8
3:129155670 MBD4 C>T	3	129155670	129155670	C	T	MBD4	c.817G>A	NM_003925.3	NP_003916.1:p.(Ala273Thr)	NC_000003.11:g.129155670C>T	(Likely) benign	1 lab	c878896704
9:139390675 NOTCH1 C>A	9	139390675	139390675	C	A	NOTCH1	c.7516G>T	NM_017617.5	NP_060087.3:p.(Glu2506Ter)	NC_000009.11:g.139390675C>A	VUS	1 lab	c8797ed513
21:47695164 MCM3AP TC>T	21	47695164	47695166	TC	T	MCM3AP	c.1933del	NM_003906.5	NP_003897.2:p.(Glu645ArgfsTer11)	NC_000021.8:g.47695166del	(Likely) pathogenic	1 lab	c8827ba5bb
16:67693535 ACD A>AG	16	67693535	67693536	A	AG	ACD	c.337-20_337-19insC	NM_001082486.2	NP_001075955.2:p.?	NC_000016.9:g.67693535_67693536insG	(Likely) benign	1 lab	c882a1fc5c
2:166847902 SCN1A AATT>A	2	166847902	166847907	AATT	A	SCN1A	c.5880_5882del	NM_001165963.4	NP_001159435.1:p.(Ile1961del)	NC_000002.11:g.166847905_166847907del	VUS	1 lab	c8834a4eb5
18:2763697 SMCHD1 C>T	18	2763697	2763697	C	T	SMCHD1	c.4629C>T	NM_015295.3	NP_056110.2:p.(Gly1543=)	NC_000018.9:g.2763697C>T	(Likely) benign	1 lab	c889f90aac
2:179395877 TTN C>T	2	179395877	179395877	C	T	TTN	c.105465G>A	NM_001267550.2	NP_001254479.2:p.(Glu35155=)	NC_000002.11:g.179395877C>T	(Likely) benign	1 lab	c88a15d135
10:73571273 CDH23 G>A	10	73571273	73571273	G	A	CDH23	c.9204G>A	NM_022124.6	NP_071407.4:p.(Ala3068=)	NC_000010.10:g.73571273G>A	(Likely) benign	1 lab	c88ccc22d9
10:5320380 MISSING C>Alt too long to show for this DUP	10	5320380	5904892	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.5320382_5904892dup	VUS	1 lab	c890077032
2:179596249 TTN G>A	2	179596249	179596249	G	A	TTN	c.13512C>T	NM_133378.4	NP_596869.4:p.(Ala4504=)	NC_000002.11:g.179596249G>A	(Likely) benign	1 lab	c892327e06
5:80057515 MSH3 C>T	5	80057515	80057515	C	T	MSH3	c.1896+18C>T	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80057515C>T	(Likely) benign	1 lab	c893a9ac39
1:216040395 USH2A C>T	1	216040395	216040395	C	T	USH2A	c.8799G>A	NM_206933.4	NP_996816.3:p.(Ala2933=)	NC_000001.10:g.216040395C>T	(Likely) benign	1 lab	c89be36c9c
13:20000641 TPTE2 T>G	13	20000641	20000641	T	G	TPTE2	c.1319A>C	NM_199254.3	NP_954863.2:p.(Glu440Ala)	NC_000013.10:g.20000641T>G	(Likely) benign	1 lab	c89e7b5d09
7:44152424 AEBP1 C>A	7	44152424	44152424	C	A	AEBP1	c.2485C>A	NM_001129.5	NP_001120.3:p.(Pro829Thr)	NC_000007.13:g.44152424C>A	VUS	1 lab	c8a06eff37
17:58235810 CA4 G>A	17	58235810	58235810	G	A	CA4	c.744+3G>A	NM_000717.5	NP_000708.1:p.?	NC_000017.10:g.58235810G>A	(Likely) benign	1 lab	c8a0f80cbd
2:179616308 TTN A>G	2	179616308	179616308	A	G	TTN	c.10819T>C	NM_133379.5	NP_596870.2:p.(Leu3607=)	NC_000002.11:g.179616308A>G	(Likely) benign	1 lab	c8a10febf1
13:32920975 BRCA2 G>T	13	32920975	32920975	G	T	BRCA2	c.6949G>T	NM_000059.4	NP_000050.3:p.(Asp2317Tyr)	NC_000013.10:g.32920975G>T	VUS	1 lab	c8a4720a0f
7:18023581 MISSING Ref too long to show for this DEL>A	7	18023581	18084203	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.18023586_18084203del	VUS	1 lab	c8a4ef19d5
16:984040 LMF1 G>A	16	984040	984040	G	A	LMF1	c.66C>T	NM_001352018.2	NP_001338947.1:p.(Pro22=)	NC_000016.9:g.984040G>A	(Likely) benign	1 lab	c8a8e3be87
14:100594935 EVL A>C	14	100594935	100594935	A	C	EVL	c.567A>C	NM_016337.3	NP_057421.1:p.(Pro189=)	NC_000014.8:g.100594935A>C	(Likely) benign	1 lab	c8b3546685
3:25777875 NGLY1 T>C	3	25777875	25777875	T	C	NGLY1	c.1020A>G	NM_001145293.2	NP_001138765.1:p.(Leu340=)	NC_000003.11:g.25777875T>C	(Likely) benign	1 lab	c8b8b71988
2:179605267 TTN C>T	2	179605267	179605267	C	T	TTN	c.12693G>A	NM_001267550.2	NP_001254479.2:p.(Glu4231=)	NC_000002.11:g.179605267C>T	(Likely) benign	1 lab	c8b9bbfef3
17:48266645 COL1A1 G>A	17	48266645	48266645	G	A	COL1A1	c.2830-9C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266645G>A	(Likely) benign	1 lab	c8ba683001
X:135278995 FHL1 C>G	X	135278995	135278995	C	G	FHL1	c.34C>G	NM_001159701.2	NP_001153173.1:p.(Leu12Val)	NC_000023.10:g.135278995C>G	VUS	1 lab	c8baa0feba
6:32012333 TNXB A>T	6	32012333	32012333	A	T	TNXB	c.11082T>A	NM_019105.8	NP_061978.6:p.(Thr3694=)	NC_000006.11:g.32012333A>T	(Likely) benign	1 lab	c8c0d4b147
19:40384635 FCGBP A>C	19	40384635	40384635	A	C	FCGBP	c.9369T>G	NM_003890.2	NP_003881.2:p.(Ala3123=)	NC_000019.9:g.40384635A>C	(Likely) benign	1 lab	c8c1400f40
12:7047678 ATN1 G>A	12	7047678	7047678	G	A	ATN1	c.2552G>A	NM_001940.4	NP_001931.2:p.(Cys851Tyr)	NC_000012.11:g.7047678G>A	VUS	1 lab	c8cf3b4723
1:10708102 CASZ1 A>AG	1	10708102	10708107	A	AG	CASZ1	c.3252dup	NM_001079843.3	NP_001073312.1:p.(Ser1085LeufsTer183)	NC_000001.10:g.10708107dup	VUS	1 lab	c8dae28a6d
9:107582270 ABCA1 T>C	9	107582270	107582270	T	C	ABCA1	c.3041A>G	NM_005502.4	NP_005493.2:p.(Gln1014Arg)	NC_000009.11:g.107582270T>C	VUS	1 lab	c8de3582de
18:58039348 MC4R T>C	18	58039348	58039348	T	C	MC4R	c.235A>G	NM_005912.3	NP_005903.2:p.(Met79Val)	NC_000018.9:g.58039348T>C	VUS	1 lab	c8e952afb9
2:21232170 APOB A>G	2	21232170	21232170	A	G	APOB	c.7570T>C	NM_000384.3	NP_000375.3:p.(Tyr2524His)	NC_000002.11:g.21232170A>G	VUS	1 lab	c8ea4d3300
16:2154461 PKD1 C>T	16	2154461	2154461	C	T	PKD1	c.8161+38G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2154461C>T	(Likely) benign	1 lab	c8ebc64339
18:19426923 MIB1 A>G	18	19426923	19426923	A	G	MIB1	c.2230A>G	NM_020774.4	NP_065825.1:p.(Thr744Ala)	NC_000018.9:g.19426923A>G	VUS	1 lab	c8efdde5e7
4:8869752 HMX1 G>A	4	8869752	8869752	G	A	HMX1	c.714C>T	NM_018942.3	NP_061815.2:p.(Ala238=)	NC_000004.11:g.8869752G>A	(Likely) benign	1 lab	c8f185c935
18:64890249 MISSING Ref too long to show for this DEL>A	18	64890249	66234105	Ref too long to show for this DEL	A	MISSING				NC_000018.9:g.64890250_66234105del	VUS	1 lab	c8f215ac1c
10:112541542 RBM20 G>A	10	112541542	112541542	G	A	RBM20	c.1175G>A	NM_001134363.3	NP_001127835.2:p.(Arg392Gln)	NC_000010.10:g.112541542G>A	VUS	1 lab	c8f5d5b9c9
2:114000303 PAX8 C>T	2	114000303	114000303	C	T	PAX8	c.442G>A	NM_003466.4	NP_003457.1:p.(Val148Met)	NC_000002.11:g.114000303C>T	VUS	1 lab	c8fa5f9108
15:30906193 GOLGA8H G>T	15	30906193	30906193	G	T	GOLGA8H	c.1507G>T	NM_001282490.1	NP_001269419.1:p.(Ala503Ser)	NC_000015.9:g.30906193G>T	(Likely) benign	1 lab	c8fc9f0756
5:127782569 FBN2 C>T	5	127782569	127782569	C	T	FBN2	c.827-270G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782569C>T	(Likely) benign	1 lab	c9015eaff5
5:127730852 FBN2 G>A	5	127730852	127730852	G	A	FBN2	c.1194C>T	NM_001999.4	NP_001990.2:p.(Ile398=)	NC_000005.9:g.127730852G>A	(Likely) benign	1 lab	c90243808f
X:47986539 MISSING Ref too long to show for this DEL>G	X	47986539	48103502	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.47986540_48103502del	VUS	1 lab	c9035afde9
2:21266694 APOB C>T	2	21266694	21266694	C	T	APOB	c.82+42G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266694C>T	(Likely) benign	1 lab	c9037ccda8
19:11230789 LDLR A>G	19	11230789	11230789	A	G	LDLR	c.1867A>G	NM_000527.5	NP_000518.1:p.(Ile623Val)	NC_000019.9:g.11230789A>G	(Likely) benign	1 lab	c906e140f8
2:232418990 MISSING G>Alt too long to show for this DUP	2	232418990	233020386	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.232418992_233020386dup	VUS	1 lab	c9076e2a59
16:70310857 AARS1 C>T	16	70310857	70310857	C	T	AARS1	c.333+12G>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70310857C>T	(Likely) benign	1 lab	c9114e26d4
4:9246862 USP17L17 T>G	4	9246862	9246862	T	G	USP17L17	c.1258T>G	NM_001256857.1	NP_001243786.1:p.(Leu420Val)	NC_000004.11:g.9246862T>G	(Likely) benign	1 lab	c9133759a2
1:11079077 TARDBP A>G	1	11079077	11079077	A	G	TARDBP	c.543+147A>G	NM_007375.4	NP_031401.1:p.?	NC_000001.10:g.11079077A>G	(Likely) benign	1 lab	c914708079
14:74983588 LTBP2 C>T	14	74983588	74983588	C	T	LTBP2	c.2845G>A	NM_000428.3	NP_000419.1:p.(Glu949Lys)	NC_000014.8:g.74983588C>T	VUS	1 lab	c9159c8eb4
16:46766182 MYLK3 G>A	16	46766182	46766182	G	A	MYLK3	c.1400C>T	NM_182493.3	NP_872299.2:p.(Pro467Leu)	NC_000016.9:g.46766182G>A	VUS	1 lab	c9179b1528
2:21228384 APOB G>A	2	21228384	21228384	G	A	APOB	c.11356C>T	NM_000384.3	NP_000375.3:p.(Leu3786Phe)	NC_000002.11:g.21228384G>A	VUS	1 lab	c9227117f1
1:23637205 HNRNPR A>AC	1	23637205	23637210	A	AC	HNRNPR	c.1652dup	NM_001102398.3	NP_001095868.1:p.(Pro552SerfsTer34)	NC_000001.10:g.23637210dup	(Likely) pathogenic	1 lab	c928ee10a8
11:9871780 SBF2 AGATT>A	11	9871780	9871802	AGATT	A	SBF2	c.2611-19_2611-16del	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9871799_9871802del	(Likely) benign	1 lab	c92e7f61b3
1:156105761 LMNA C>T	1	156105761	156105761	C	T	LMNA	c.1006C>T	NM_170707.4	NP_733821.1:p.(Arg336Trp)	NC_000001.10:g.156105761C>T	VUS	1 lab	c9326646a4
1:66075666 LEPR AG>A	1	66075666	66075667	AG	A	LEPR	c.1790del	NM_002303.6	NP_002294.2:p.(Ser597IlefsTer20)	NC_000001.10:g.66075667del	(Likely) pathogenic	1 lab	c933256e2a
1:171621580 MYOC C>A	1	171621580	171621580	C	A	MYOC	c.172G>T	NM_000261.2	NP_000252.1:p.(Glu58Ter)	NC_000001.10:g.171621580C>A	(Likely) pathogenic	1 lab	c93882c77e
15:44889091 SPG11 C>T	15	44889091	44889091	C	T	SPG11	c.4052G>A	NM_025137.4	NP_079413.3:p.(Arg1351Lys)	NC_000015.9:g.44889091C>T	(Likely) benign	1 lab	c93c93568f
6:32024511 TNXB C>T	6	32024511	32024511	C	T	TNXB	c.7995G>A	NM_019105.8	NP_061978.6:p.(Gly2665=)	NC_000006.11:g.32024511C>T	(Likely) benign	1 lab	c93ef45843
16:28890131 ATP2A1 C>A	16	28890131	28890131	C	A	ATP2A1	c.118+21C>A	NM_004320.6	NP_004311.1:p.?	NC_000016.9:g.28890131C>A	(Likely) benign	1 lab	c93f6dd3a7
9:34506729 DNAI1 G>T	9	34506729	34506729	G	T	DNAI1	c.1180G>T	NM_001281428.2	NP_001268357.1:p.(Asp394Tyr)	NC_000009.11:g.34506729G>T	VUS	1 lab	c941d4739f
19:3855025 MISSING Ref too long to show for this DEL>T	19	3855025	3984757	Ref too long to show for this DEL	T	MISSING				NC_000019.9:g.3855026_3984757del	VUS	1 lab	c94325714d
3:130447530 PIK3R4 T>TAA	3	130447530	130447546	T	TAA	PIK3R4	c.1586-4_1586-3dup	NM_014602.3	NP_055417.1:p.?	NC_000003.11:g.130447545_130447546dup	(Likely) benign	1 lab	c945691337
2:189866123 COL3A1 G>C	2	189866123	189866123	G	C	COL3A1	c.2284G>C	NM_000090.4	NP_000081.2:p.(Gly762Arg)	NC_000002.11:g.189866123G>C	(Likely) pathogenic	1 lab	c94814b48c
2:202430450 CATSPERT A>T	2	202430450	202430450	A	T	CATSPERT	c.977+2T>A	NM_001168221.2	NP_001161693.1:p.?	NC_000002.11:g.202430450A>T	(Likely) benign	1 lab	c94b8ae730
16:57012012 CETP G>A	16	57012012	57012012	G	A	CETP	c.991G>A	NM_000078.3	NP_000069.2:p.(Gly331Ser)	NC_000016.9:g.57012012G>A	(Likely) benign	1 lab	c94e30ab92
8:133980208 TG G>A	8	133980208	133980208	G	A	TG	c.5856G>A	NM_003235.5	NP_003226.4:p.(Arg1952=)	NC_000008.10:g.133980208G>A	(Likely) benign	1 lab	c95298654a
20:62642823 PRPF6 C>T	20	62642823	62642823	C	T	PRPF6	c.1491C>T	NM_012469.4	NP_036601.2:p.(Asn497=)	NC_000020.10:g.62642823C>T	(Likely) benign	1 lab	c957b35e8c
16:3639049 SLX4 C>T	16	3639049	3639049	C	T	SLX4	c.4590G>A	NM_032444.4	NP_115820.2:p.(Met1530Ile)	NC_000016.9:g.3639049C>T	(Likely) benign	1 lab	c95943f4a3
9:139402602 NOTCH1 T>G	9	139402602	139402602	T	G	NOTCH1	c.3326-11A>C	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139402602T>G	(Likely) benign	1 lab	c96204cfd1
11:47359434 MYBPC3 G>A	11	47359434	47359434	G	A	MYBPC3	c.2309-89C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359434G>A	(Likely) benign	1 lab	c9670d8e5f
1:95005865 MISSING T>Alt too long to show for this DUP	1	95005865	95330328	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.95005867_95330328dup	VUS	1 lab	c96914ec0e
8:144295136 GPIHBP1 C>T	8	144295136	144295136	C	T	GPIHBP1	c.-7C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295136C>T	(Likely) benign	1 lab	c96cb05092
1:55524339 PCSK9 CGTGTGTGT>C	1	55524339	55524391	CGTGTGTGT	C	PCSK9	c.1503+64_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524384_55524391del	(Likely) benign	1 lab	c96dd25a90
16:67977103 LCAT A>G	16	67977103	67977103	A	G	LCAT	c.167T>C	NM_000229.2	NP_000220.1:p.(Leu56Pro)	NC_000016.9:g.67977103A>G	(Likely) pathogenic	1 lab	c9729419c1
19:13003125 GCDH CAA>C	19	13003125	13003127	CAA	C	GCDH	c.334+134_334+135del	NM_000159.4	NP_000150.1:p.?	NC_000019.9:g.13003126_13003127del	(Likely) benign	1 lab	c973684be0
9:137714890 COL5A1 T>C	9	137714890	137714890	T	C	COL5A1	c.4644+11T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137714890T>C	(Likely) benign	1 lab	c974d5fad9
8:19816637 LPL C>CA	8	19816637	19816638	C	CA	LPL	c.1019-133dup	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816638dup	(Likely) benign	1 lab	c97aefbc59
8:59407065 CYP7A1 C>T	8	59407065	59407065	C	T	CYP7A1	c.1039G>A	NM_000780.4	NP_000771.2:p.(Asp347Asn)	NC_000008.10:g.59407065C>T	VUS	1 lab	c97c89c503
22:42221714 CCDC134 A>G	22	42221714	42221714	A	G	CCDC134	c.577A>G	NM_024821.5	NP_079097.1:p.(Thr193Ala)	NC_000022.10:g.42221714A>G	(Likely) benign	1 lab	c97e237dad
20:13074243 SPTLC3 T>A	20	13074243	13074243	T	A	SPTLC3	c.826+19T>A	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13074243T>A	(Likely) benign	1 lab	c97fe05c19
1:161275773 MPZ G>C	1	161275773	161275773	G	C	MPZ	c.646-6C>G	NM_000530.8	NP_000521.2:p.?	NC_000001.10:g.161275773G>C	VUS	1 lab	c9906121d1
10:54053625 PRKG1 C>T	10	54053625	54053625	C	T	PRKG1	c.2026C>T	NM_006258.4	NP_006249.1:p.(Pro676Ser)	NC_000010.10:g.54053625C>T	VUS	1 lab	c99168445d
7:151842337 KMT2C C>G	7	151842337	151842337	C	G	KMT2C	c.14075G>C	NM_170606.3	NP_733751.2:p.(Gly4692Ala)	NC_000007.13:g.151842337C>G	VUS	1 lab	c992acadef
16:21949008 MISSING A>Alt too long to show for this DUP	16	21949008	22470230	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.21949009_22470230dup	VUS	1 lab	c997a1369b
11:35244071 MISSING A>Alt too long to show for this DUP	11	35244071	35257792	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.35244072_35257792dup	VUS	1 lab	c9997e6bd6
10:68940172 CTNNA3 G>GAATCC	10	68940172	68940177	G	GAATCC	CTNNA3	c.945_949dup	NM_013266.4	NP_037398.2:p.(Ser317TrpfsTer33)	NC_000010.10:g.68940173_68940177dup	VUS	1 lab	c99e9db758
12:122265658 SETD1B C>T	12	122265658	122265658	C	T	SETD1B	c.5487C>T	NM_001353345.2	NP_001340274.1:p.(Leu1829=)	NC_000012.11:g.122265658C>T	(Likely) benign	1 lab	c9a4435e79
16:29427214 MISSING Ref too long to show for this DEL>G	16	29427214	30191848	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.29427215_30191848del	(Likely) pathogenic	1 lab	c9a8f926b7
6:100898153 SIM1 C>T	6	100898153	100898153	C	T	SIM1	c.338G>A	NM_005068.3	NP_005059.2:p.(Gly113Asp)	NC_000006.11:g.100898153C>T	VUS	1 lab	c9a9c565af
2:179454439 TTN C>T	2	179454439	179454439	C	T	TTN	c.62013G>A	NM_001267550.2	NP_001254479.2:p.(Glu20671=)	NC_000002.11:g.179454439C>T	(Likely) benign	1 lab	c9acc7ffee
X:31697511 DMD T>C	X	31697511	31697511	T	C	DMD	c.7484A>G	NM_004010.3	NP_004001.1:p.(Lys2495Arg)	NC_000023.10:g.31697511T>C	(Likely) benign	1 lab	c9b08bcf51
3:8835684 MISSING Ref too long to show for this DEL>A	3	8835684	12264574	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.8835685_12264574del	(Likely) pathogenic	1 lab	c9b23413a2
15:58855704 LIPC G>A	15	58855704	58855704	G	A	LIPC	c.1170G>A	NM_000236.3	NP_000227.2:p.(Leu390=)	NC_000015.9:g.58855704G>A	VUS	1 lab	c9b475e6ce
7:6505901 KDELR2 T>C	7	6505901	6505901	T	C	KDELR2	c.405A>G	NM_006854.4	NP_006845.1:p.(Leu135=)	NC_000007.13:g.6505901T>C	(Likely) benign	1 lab	c9b8624587
3:63967895 ATXN7 T>C	3	63967895	63967895	T	C	ATXN7	c.786T>C	NM_000333.4	NP_000324.1:p.(His262=)	NC_000003.11:g.63967895T>C	(Likely) benign	1 lab	c9b88ad3b1
2:179433221 TTN-AS1 T>C	2	179433221	179433221	T	C	TTN-AS1	n.2044-14078T>C	NR_038272.1		NC_000002.11:g.179433221T>C	(Likely) benign	1 lab	c9bcd1f8ac
16:57003836 CETP T>C	16	57003836	57003836	T	C	CETP	c.450T>C	NM_000078.3	NP_000069.2:p.(Ser150=)	NC_000016.9:g.57003836T>C	(Likely) benign	1 lab	c9c0f4b59e
6:158514295 MISSING C>Alt too long to show for this DUP	6	158514295	158758934	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.158514296_158758934dup	VUS	1 lab	c9c6eb5b16
11:95583915 MTMR2 T>TGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCA	11	95583915	95583916	T	TGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCA	MTMR2	c.439-3_439-2insTGAATACAAAGAAGTATTCCCTGAAAATGGGTGGAAGCTATATGACCCTCTTTTAGAGTATAGAAGGC	NM_001243571.2	NP_001230500.1:p.?	NC_000011.9:g.95583915_95583916insGCCTTCTATACTCTAAAAGAGGGTCATATAGCTTCCACCCATTTTCAGGGAATACTTCTTTGTATTCA	(Likely) benign	1 lab	c9c70ccddb
12:2787036 CACNA1C G>A	12	2787036	2787036	G	A	CACNA1C	c.5235+3G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2787036G>A	(Likely) benign	1 lab	c9caa561fd
1:161277116 MPZ C>T	1	161277116	161277116	C	T	MPZ	c.166G>A	NM_000530.8	NP_000521.2:p.(Glu56Lys)	NC_000001.10:g.161277116C>T	(Likely) pathogenic	1 lab	c9cb5e5d8d
2:21242766 APOB T>C	2	21242766	21242766	T	C	APOB	c.2828A>G	NM_000384.3	NP_000375.3:p.(His943Arg)	NC_000002.11:g.21242766T>C	VUS	1 lab	c9dad3fa2c
8:62593538 ASPH T>C	8	62593538	62593538	T	C	ASPH	c.269A>G	NM_020164.5	NP_064549.1:p.(Lys90Arg)	NC_000008.10:g.62593538T>C	VUS	1 lab	c9dc056950
9:107565904 ABCA1 T>C	9	107565904	107565904	T	C	ABCA1	c.4560-307A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107565904T>C	(Likely) benign	1 lab	c9dc21586a
12:50501587 GPD1 G>A	12	50501587	50501587	G	A	GPD1	c.846+4G>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501587G>A	(Likely) benign	1 lab	c9dc51786f
1:236922813 ACTN2 C>T	1	236922813	236922813	C	T	ACTN2	c.2302-211C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236922813C>T	(Likely) benign	1 lab	c9e7692439
5:178634499 ADAMTS2 A>C	5	178634499	178634499	A	C	ADAMTS2	c.891+15T>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178634499A>C	(Likely) benign	1 lab	c9e94cbf0e
2:179466591 TTN T>C	2	179466591	179466591	T	C	TTN	c.55302+18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179466591T>C	(Likely) benign	1 lab	c9e9f81c8a
11:47364249 MYBPC3 G>A	11	47364249	47364249	G	A	MYBPC3	c.1504C>T	NM_000256.3	NP_000247.2:p.(Arg502Trp)	NC_000011.9:g.47364249G>A	(Likely) pathogenic	1 lab	c9f07ccdbb
3:78663956 ROBO1 G>A	3	78663956	78663956	G	A	ROBO1	c.4148-6C>T	NM_133631.4	NP_598334.2:p.?	NC_000003.11:g.78663956G>A	(Likely) benign	1 lab	c9f1bf79c9
12:104373829 TDG C>A	12	104373829	104373829	C	A	TDG	c.387C>A	NM_003211.6	NP_003202.3:p.(Thr129=)	NC_000012.11:g.104373829C>A	(Likely) benign	1 lab	c9f2f20127
6:7568391 DSP GA>G	6	7568391	7568392	GA	G	DSP	c.1266+253del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7568392del	(Likely) benign	1 lab	c9f3d89646
2:179606072 TTN C>G	2	179606072	179606072	C	G	TTN	c.11888G>C	NM_001267550.2	NP_001254479.2:p.(Gly3963Ala)	NC_000002.11:g.179606072C>G	VUS	1 lab	c9f4176935
1:33256884 YARS1 C>A	1	33256884	33256884	C	A	YARS1	c.592-29G>T	NM_003680.4	NP_003671.1:p.?	NC_000001.10:g.33256884C>A	(Likely) benign	1 lab	c9fbdd8a46
6:75899380 COL12A1 A>G	6	75899380	75899380	A	G	COL12A1	c.546T>C	NM_004370.6	NP_004361.3:p.(Val182=)	NC_000006.11:g.75899380A>G	(Likely) benign	1 lab	ca015ea120
10:85970755 CDHR1 A>G	10	85970755	85970755	A	G	CDHR1	c.1321-2A>G	NM_033100.4	NP_149091.1:p.?	NC_000010.10:g.85970755A>G	(Likely) pathogenic	1 lab	ca023697b9
3:48622354 COL7A1 G>A	3	48622354	48622354	G	A	COL7A1	c.4000C>T	NM_000094.4	NP_000085.1:p.(Arg1334Cys)	NC_000003.11:g.48622354G>A	VUS	1 lab	ca08bbb482
11:13750212 FAR1 G>A	11	13750212	13750212	G	A	FAR1	c.1439G>A	NM_032228.6	NP_115604.1:p.(Arg480His)	NC_000011.9:g.13750212G>A	VUS	1 lab	cb28f92c73
2:97530815 SEMA4C A>G	2	97530815	97530815	A	G	SEMA4C	c.672T>C	NM_017789.5	NP_060259.4:p.(Ser224=)	NC_000002.11:g.97530815A>G	(Likely) benign	1 lab	ca0b79c057
18:2707619 SMCHD1 G>A	18	2707619	2707619	G	A	SMCHD1	c.2122G>A	NM_015295.3	NP_056110.2:p.(Val708Ile)	NC_000018.9:g.2707619G>A	(Likely) benign	1 lab	ca0bf4bbf8
10:61835153 ANK3 T>C	10	61835153	61835153	T	C	ANK3	c.5486A>G	NM_020987.5	NP_066267.2:p.(Asn1829Ser)	NC_000010.10:g.61835153T>C	VUS	1 lab	ca0d73b77e
13:32930731 BRCA2 G>A	13	32930731	32930731	G	A	BRCA2	c.7602G>A	NM_000059.4	NP_000050.3:p.(Ala2534=)	NC_000013.10:g.32930731G>A	(Likely) benign	1 lab	ca17e769b3
22:20456851 RIMBP3 C>T	22	20456851	20456851	C	T	RIMBP3	c.4451G>A	NM_015672.2	NP_056487.1:p.(Arg1484Lys)	NC_000022.10:g.20456851C>T	(Likely) benign	1 lab	ca1c0def02
13:32912471 BRCA2 G>A	13	32912471	32912471	G	A	BRCA2	c.3979G>A	NM_000059.4	NP_000050.3:p.(Ala1327Thr)	NC_000013.10:g.32912471G>A	(Likely) benign	1 lab	ca24c71ceb
2:21239158 APOB CA>C	2	21239158	21239172	CA	C	APOB	c.3332+152del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21239172del	(Likely) benign	1 lab	ca2554ee17
12:46243902 ARID2 C>CAAAT	12	46243902	46243906	C	CAAAT	ARID2	c.1997_2000dup	NM_152641.4	NP_689854.2:p.(Met667IlefsTer41)	NC_000012.11:g.46243903_46243906dup	(Likely) pathogenic	1 lab	ca2870e6ad
14:23894497 MYH7 T>G	14	23894497	23894497	T	G	MYH7	c.2417A>C	NM_000257.4	NP_000248.2:p.(Glu806Ala)	NC_000014.8:g.23894497T>G	VUS	1 lab	ca362e8a49
9:103027226 INVS CTTT>C	9	103027226	103027242	CTTT	C	INVS	c.1571+30_1571+32del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103027240_103027242del	(Likely) benign	1 lab	ca385e581d
5:13780992 DNAH5 G>A	5	13780992	13780992	G	A	DNAH5	c.8897C>T	NM_001369.3	NP_001360.1:p.(Thr2966Met)	NC_000005.9:g.13780992G>A	VUS	1 lab	ca4368a7db
7:91712791 AKAP9 A>G	7	91712791	91712791	A	G	AKAP9	c.8468A>G	NM_005751.5	NP_005742.4:p.(Gln2823Arg)	NC_000007.13:g.91712791A>G	VUS	1 lab	ca43959dcc
14:33684416 NPAS3 C>T	14	33684416	33684416	C	T	NPAS3	c.169C>T	NM_001164749.2	NP_001158221.1:p.(Arg57Ter)	NC_000014.8:g.33684416C>T	VUS	1 lab	ca43ccca13
1:3329270 PRDM16 G>A	1	3329270	3329270	G	A	PRDM16	c.2509G>A	NM_022114.4	NP_071397.3:p.(Glu837Lys)	NC_000001.10:g.3329270G>A	VUS	1 lab	ca44bcd327
3:135692285 MISSING Ref too long to show for this DEL>C	3	135692285	139048747	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.135692287_139048747del	(Likely) pathogenic	1 lab	ca4655a333
8:42761307 HOOK3 T>TC	8	42761307	42761310	T	TC	HOOK3	c.58-6dup	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42761310dup	(Likely) benign	1 lab	ca493aa475
3:159156409 SCHIP1 Ref too long to show for this DEL>T	3	159156409	159462410	Ref too long to show for this DEL	T	SCHIP1	c.63+164739_64-19822del	NM_014575.4	NP_055390.1:p.?	NC_000003.11:g.159156411_159462410del	VUS	1 lab	ca49b1aa6c
2:21228313 APOB G>A	2	21228313	21228313	G	A	APOB	c.11427C>T	NM_000384.3	NP_000375.3:p.(Pro3809=)	NC_000002.11:g.21228313G>A	(Likely) benign	1 lab	ca4b1cd6c2
2:105977771 FHL2 A>G	2	105977771	105977771	A	G	FHL2	c.485T>C	NM_001318899.2	NP_001305828.1:p.(Ile162Thr)	NC_000002.11:g.105977771A>G	VUS	1 lab	ca4f8e3c6d
9:137717406 COL5A1 G>C	9	137717406	137717406	G	C	COL5A1	c.4955-232G>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137717406G>C	(Likely) benign	1 lab	ca53e870c9
14:102431016 DYNC1H1 C>G	14	102431016	102431016	C	G	DYNC1H1	c.-13C>G	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102431016C>G	(Likely) benign	1 lab	ca55254c97
19:11217304 LDLR G>A	19	11217304	11217304	G	A	LDLR	c.758G>A	NM_000527.5	NP_000518.1:p.(Arg253Gln)	NC_000019.9:g.11217304G>A	(Likely) benign	1 lab	ca556bdbdb
19:11201925 LDLR T>C	19	11201925	11201925	T	C	LDLR	c.67+1634T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11201925T>C	(Likely) benign	1 lab	ca55ecad43
17:48276616 COL1A1 C>A	17	48276616	48276616	C	A	COL1A1	c.442G>T	NM_000088.4	NP_000079.2:p.(Gly148Ter)	NC_000017.10:g.48276616C>A	(Likely) pathogenic	1 lab	ca58d4f0e7
2:220285079 DES G>A	2	220285079	220285079	G	A	DES	c.735+11G>A	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285079G>A	(Likely) benign	1 lab	ca5dc319c1
17:1673248 SERPINF1 T>TA	17	1673248	1673249	T	TA	SERPINF1	c.188dup	NM_002615.7	NP_002606.3:p.(Tyr63Ter)	NC_000017.10:g.1673249dup	(Likely) pathogenic	1 lab	ca606e6865
1:92711972 GLMN C>G	1	92711972	92711972	C	G	GLMN	c.*115G>C	NM_053274.3	NP_444504.1:p.?	NC_000001.10:g.92711972C>G	(Likely) benign	1 lab	ca628b4844
2:74761436 LOXL3 A>G	2	74761436	74761436	A	G	LOXL3	c.1939+7T>C	NM_032603.5	NP_115992.1:p.?	NC_000002.11:g.74761436A>G	(Likely) benign	1 lab	ca669344a4
8:48732074 PRKDC T>TAAAA	8	48732074	48732095	T	TAAAA	PRKDC	c.9337-7_9337-4dup	NM_006904.7	NP_008835.5:p.?	NC_000008.10:g.48732092_48732095dup	(Likely) benign	1 lab	ca6af137f5
19:11213449 LDLR C>G	19	11213449	11213449	C	G	LDLR	c.300C>G	NM_000527.5	NP_000518.1:p.(Asp100Glu)	NC_000019.9:g.11213449C>G	(Likely) pathogenic	1 lab	ca70393a65
12:2714910 CACNA1C G>C	12	2714910	2714910	G	C	CACNA1C	c.3114G>C	NM_001167623.2	NP_001161095.1:p.(Leu1038=)	NC_000012.11:g.2714910G>C	(Likely) benign	1 lab	ca7186e740
2:25384180 POMC CG>C	2	25384180	25384184	CG	C	POMC	c.573del	NM_001035256.3	NP_001030333.1:p.(Asp192ThrfsTer50)	NC_000002.11:g.25384184del	(Likely) pathogenic	1 lab	ca75872f4e
1:6545509 PLEKHG5 C>T	1	6545509	6545509	C	T	PLEKHG5	c.-6G>A	NM_001265593.1	NP_001252522.1:p.?	NC_000001.10:g.6545509C>T	(Likely) benign	1 lab	ca79c2903c
21:44488823 CBS GA>G	21	44488823	44488848	GA	G	CBS	c.210-99del	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44488848del	(Likely) benign	1 lab	ca8f57c0b2
9:140164420 MISSING Ref too long to show for this DEL>G	9	140164420	141122115	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.140164422_141122115del	(Likely) pathogenic	1 lab	ca90ae2d5d
21:15397306 MISSING Ref too long to show for this DEL>A	21	15397306	23516326	Ref too long to show for this DEL	A	MISSING				NC_000021.8:g.15397308_23516326del	(Likely) pathogenic	1 lab	ca97085930
2:21232226 APOB A>G	2	21232226	21232226	A	G	APOB	c.7514T>C	NM_000384.3	NP_000375.3:p.(Leu2505Ser)	NC_000002.11:g.21232226A>G	VUS	1 lab	ca9dc6fe41
4:100485333 MTTP T>TGAC	4	100485333	100485335	T	TGAC	MTTP	c.-249_-248insACG	NM_001300785.2	NP_001287714.2:p.?	NC_000004.11:g.100485334_100485335insACG	VUS	1 lab	ca9f43311b
15:67457507 SMAD3 C>T	15	67457507	67457507	C	T	SMAD3	c.400+81C>T	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67457507C>T	(Likely) benign	1 lab	caa374a8e6
9:107560894 ABCA1 C>G	9	107560894	107560894	C	G	ABCA1	c.4944-15G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107560894C>G	(Likely) benign	1 lab	caaa124cb7
19:11216112 LDLR C>T	19	11216112	11216112	C	T	LDLR	c.530C>T	NM_000527.5	NP_000518.1:p.(Ser177Leu)	NC_000019.9:g.11216112C>T	(Likely) pathogenic	1 lab	cab15335e7
15:72030365 THSD4 C>T	15	72030365	72030365	C	T	THSD4	c.1906+19C>T	NM_024817.2	NP_079093.2:p.?	NC_000015.9:g.72030365C>T	(Likely) benign	1 lab	cab1f2a068
8:19818551 LPL G>A	8	19818551	19818551	G	A	LPL	c.1279G>A	NM_000237.3	NP_000228.1:p.(Ala427Thr)	NC_000008.10:g.19818551G>A	(Likely) benign	1 lab	cab523e1b9
8:144993324 PLEC C>T	8	144993324	144993324	C	T	PLEC	c.11076G>A	NM_201380.4	NP_958782.1:p.(Thr3692=)	NC_000008.10:g.144993324C>T	(Likely) benign	1 lab	cab7937fe4
11:75908040 WNT11 A>G	11	75908040	75908040	A	G	WNT11	c.84-278T>C	NM_004626.3	NP_004617.2:p.?	NC_000011.9:g.75908040A>G	(Likely) benign	1 lab	cab8bcc812
11:47363805 MYBPC3 G>A	11	47363805	47363805	G	A	MYBPC3	c.1625-98C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363805G>A	(Likely) benign	1 lab	cab99afe54
18:47093903 LIPG TC>T	18	47093903	47093908	TC	T	LIPG	c.376del	NM_006033.4	NP_006024.1:p.(Leu126TrpfsTer40)	NC_000018.9:g.47093908del	(Likely) pathogenic	1 lab	cabc584525
5:7896957 MTRR CT>C	5	7896957	7896968	CT	C	MTRR	c.1677-9del	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7896968del	(Likely) benign	1 lab	cabd1a21e4
2:21226212 APOB C>A	2	21226212	21226212	C	A	APOB	c.12088-6G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21226212C>A	(Likely) benign	1 lab	cabf5c9a37
9:119460286 TRIM32 G>A	9	119460286	119460286	G	A	TRIM32	c.265G>A	NM_012210.4	NP_036342.2:p.(Ala89Thr)	NC_000009.11:g.119460286G>A	(Likely) benign	1 lab	cac8fa4ae8
11:108190718 ATM T>G	11	108190718	108190718	T	G	ATM	c.6385T>G	NM_000051.4	NP_000042.3:p.(Tyr2129Asp)	NC_000011.9:g.108190718T>G	VUS	1 lab	cad0cbdb37
4:114294287 ANK2 A>G	4	114294287	114294287	A	G	ANK2	c.11652A>G	NM_001148.6	NP_001139.3:p.(Glu3884=)	NC_000004.11:g.114294287A>G	(Likely) benign	1 lab	cad609c575
17:17619561 RAI1 Ref too long to show for this DEL>T	17	17619561	17625147	Ref too long to show for this DEL	T	RAI1	c.-148-7780_-148-2195del	NM_030665.4	NP_109590.3:p.?	NC_000017.10:g.17619562_17625147del	VUS	1 lab	cad9962d60
19:13035326 FARSA G>A	19	13035326	13035326	G	A	FARSA	c.1210C>T	NM_004461.3	NP_004452.1:p.(Arg404Cys)	NC_000019.9:g.13035326G>A	(Likely) pathogenic	1 lab	cad9aed505
3:132415578 NPHP3 G>A	3	132415578	132415578	G	A	NPHP3	c.2168C>T	NM_153240.5	NP_694972.3:p.(Ala723Val)	NC_000003.11:g.132415578G>A	VUS	1 lab	cadd85a195
7:6042124 PMS2 A>G	7	6042124	6042124	A	G	PMS2	c.497T>C	NM_000535.7	NP_000526.2:p.(Leu166Pro)	NC_000007.13:g.6042124A>G	(Likely) benign	1 lab	cadecce16e
12:50499450 GPD1 C>T	12	50499450	50499450	C	T	GPD1	c.339C>T	NM_005276.4	NP_005267.2:p.(Ala113=)	NC_000012.11:g.50499450C>T	(Likely) benign	1 lab	cae18c0758
19:43441190 PSG7 T>G	19	43441190	43441190	T	G	PSG7	c.39A>C	NM_002783.3	NP_002774.2:p.(Ile13=)	NC_000019.9:g.43441190T>G	(Likely) benign	1 lab	cae6ad28ff
19:11200218 LDLR T>A	19	11200218	11200218	T	A	LDLR	c.-7T>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200218T>A	(Likely) benign	1 lab	cae7659d01
9:137708668 COL5A1 C>T	9	137708668	137708668	C	T	COL5A1	c.4123-204C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137708668C>T	(Likely) benign	1 lab	cae794df51
7:6026415 PMS2 C>T	7	6026415	6026415	C	T	PMS2	c.1981G>A	NM_000535.7	NP_000526.2:p.(Glu661Lys)	NC_000007.13:g.6026415C>T	VUS	1 lab	cae8621782
15:99434641 IGF1R A>G	15	99434641	99434641	A	G	IGF1R	c.728A>G	NM_000875.5	NP_000866.1:p.(Asp243Gly)	NC_000015.9:g.99434641A>G	VUS	1 lab	cae8c8e587
8:19811674 LPL G>A	8	19811674	19811674	G	A	LPL	c.585G>A	NM_000237.3	NP_000228.1:p.(Pro195=)	NC_000008.10:g.19811674G>A	(Likely) benign	1 lab	caebf31cde
1:237617722 RYR2 G>T	1	237617722	237617722	G	T	RYR2	c.1324G>T	NM_001035.3	NP_001026.2:p.(Ala442Ser)	NC_000001.10:g.237617722G>T	VUS	1 lab	caedd37e64
1:237921072 RYR2 A>T	1	237921072	237921072	A	T	RYR2	c.11321A>T	NM_001035.3	NP_001026.2:p.(Gln3774Leu)	NC_000001.10:g.237921072A>T	(Likely) pathogenic	1 lab	caf2bbe020
7:81641570 CACNA2D1 G>GAAAAA	7	81641570	81641583	G	GAAAAA	CACNA2D1	c.1273-16_1273-12dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641579_81641583dup	(Likely) benign	1 lab	caf5322040
19:50771432 MYH14 C>T	19	50771432	50771432	C	T	MYH14	c.2841C>T	NM_001145809.2	NP_001139281.1:p.(Arg947=)	NC_000019.9:g.50771432C>T	(Likely) benign	1 lab	caf56f2bf7
11:63410985 ATL3 G>C	11	63410985	63410985	G	C	ATL3	c.712-18C>G	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63410985G>C	(Likely) benign	1 lab	cafa1063c8
10:28884760 WAC G>T	10	28884760	28884760	G	T	WAC	c.574G>T	NM_100264.3	NP_567822.1:p.(Ala192Ser)	NC_000010.10:g.28884760G>T	VUS	1 lab	cafbf04527
3:136240097 STAG1 C>G	3	136240097	136240097	C	G	STAG1	c.634G>C	NM_005862.3	NP_005853.2:p.(Asp212His)	NC_000003.11:g.136240097C>G	VUS	1 lab	cafc4e5e64
15:48707887 FBN1 A>G	15	48707887	48707887	A	G	FBN1	c.7897T>C	NM_000138.5	NP_000129.3:p.(Cys2633Arg)	NC_000015.9:g.48707887A>G	(Likely) pathogenic	1 lab	cb09ff196c
3:7373280 GRM7 Ref too long to show for this DEL>A	3	7373280	7410969	Ref too long to show for this DEL	A	GRM7	c.1033+24943_1034-45741del	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.7373282_7410969del	VUS	1 lab	cb0bd77f40
1:156084958 LMNA C>T	1	156084958	156084958	C	T	LMNA	c.249C>T	NM_170707.4	NP_733821.1:p.(Ala83=)	NC_000001.10:g.156084958C>T	(Likely) benign	1 lab	cb110b8b9e
7:100638484 MUC12 A>T	7	100638484	100638484	A	T	MUC12	c.4640A>T	NM_001164462.1	NP_001157934.1:p.(Lys1547Ile)	NC_000007.13:g.100638484A>T	(Likely) benign	1 lab	cb1411105f
17:8192377 SLC25A35 G>T	17	8192377	8192377	G	T	SLC25A35	c.*557C>A	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192377G>T	(Likely) benign	1 lab	cb18eeb7c2
X:32632460 DMD G>A	X	32632460	32632460	G	A	DMD	c.1073C>T	NM_004010.3	NP_004001.1:p.(Pro358Leu)	NC_000023.10:g.32632460G>A	VUS	1 lab	cb1ca3c0e0
11:47358836 MYBPC3 C>G	11	47358836	47358836	C	G	MYBPC3	c.2602+106G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358836C>G	(Likely) benign	1 lab	cb1d4859d0
2:44078812 ABCG8 C>A	2	44078812	44078812	C	A	ABCG8	c.412C>A	NM_022437.3	NP_071882.1:p.(Pro138Thr)	NC_000002.11:g.44078812C>A	VUS	1 lab	cb1fb7e275
3:49680225 BSN C>T	3	49680225	49680225	C	T	BSN	c.1158C>T	NM_003458.4	NP_003449.2:p.(Ile386=)	NC_000003.11:g.49680225C>T	(Likely) benign	1 lab	cb23b82a82
2:44071663 ABCG8 G>A	2	44071663	44071663	G	A	ABCG8	c.81G>A	NM_022437.3	NP_071882.1:p.(Leu27=)	NC_000002.11:g.44071663G>A	(Likely) benign	1 lab	cb23cec8ad
16:920862 LMF1 C>A	16	920862	920862	C	A	LMF1	c.700G>T	NM_001352018.2	NP_001338947.1:p.(Ala234Ser)	NC_000016.9:g.920862C>A	VUS	1 lab	cb2e16f510
16:1004533 LMF1 G>A	16	1004533	1004533	G	A	LMF1	c.327C>T	NM_022773.4	NP_073610.2:p.(Tyr109=)	NC_000016.9:g.1004533G>A	(Likely) benign	1 lab	cb3976ed25
2:44055171 ABCG5 C>T	2	44055171	44055171	C	T	ABCG5	c.585G>A	NM_022436.3	NP_071881.1:p.(Thr195=)	NC_000002.11:g.44055171C>T	VUS	1 lab	cb3f80fd9d
15:45389543 DUOX2 T>A	15	45389543	45389543	T	A	DUOX2	c.3740A>T	NM_014080.5	NP_054799.4:p.(His1247Leu)	NC_000015.9:g.45389543T>A	VUS	1 lab	cb4351ce2f
8:10480163 RP1L1 G>A	8	10480163	10480163	G	A	RP1L1	c.549C>T	NM_178857.6	NP_849188.4:p.(Gly183=)	NC_000008.10:g.10480163G>A	VUS	1 lab	cb44907180
2:179634603 TTN T>G	2	179634603	179634603	T	G	TTN	c.8705A>C	NM_001267550.2	NP_001254479.2:p.(Glu2902Ala)	NC_000002.11:g.179634603T>G	VUS	1 lab	cb458013e7
11:27695711 BDNF C>T	11	27695711	27695711	C	T	BDNF	c.121G>A	NM_001143810.2	NP_001137282.1:p.(Ala41Thr)	NC_000011.9:g.27695711C>T	(Likely) benign	1 lab	cb63533f27
X:105450631 PWWP3B A>G	X	105450631	105450631	A	G	PWWP3B	c.1206A>G	NM_152423.5	NP_689636.3:p.(Lys402=)	NC_000023.10:g.105450631A>G	(Likely) benign	1 lab	cb66550af1
16:57012164 CETP A>G	16	57012164	57012164	A	G	CETP	c.1143A>G	NM_000078.3	NP_000069.2:p.(Glu381=)	NC_000016.9:g.57012164A>G	(Likely) benign	1 lab	cb6b36876c
1:237754022 RYR2 C>T	1	237754022	237754022	C	T	RYR2	c.3890C>T	NM_001035.3	NP_001026.2:p.(Thr1297Ile)	NC_000001.10:g.237754022C>T	VUS	1 lab	cb6d429baa
12:125296434 SCARB1 C>T	12	125296434	125296434	C	T	SCARB1	c.708G>A	NM_001367981.1	NP_001354910.1:p.(Lys236=)	NC_000012.11:g.125296434C>T	(Likely) benign	1 lab	cb6f5d6f29
10:55721624 PCDH15 C>G	10	55721624	55721624	C	G	PCDH15	c.2912G>C	NM_001142771.2	NP_001136243.1:p.(Arg971Thr)	NC_000010.10:g.55721624C>G	(Likely) benign	1 lab	cb714d21c4
9:88248239 AGTPBP1 T>C	9	88248239	88248239	T	C	AGTPBP1	c.1353A>G	NM_001330701.2	NP_001317630.1:p.(Lys451=)	NC_000009.11:g.88248239T>C	(Likely) benign	1 lab	cb79f2d51e
19:10112346 COL5A3 T>C	19	10112346	10112346	T	C	COL5A3	c.964A>G	NM_015719.4	NP_056534.2:p.(Arg322Gly)	NC_000019.9:g.10112346T>C	(Likely) benign	1 lab	cb7dc61ee9
2:44079004 ABCG8 T>C	2	44079004	44079004	T	C	ABCG8	c.561+43T>C	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44079004T>C	(Likely) benign	1 lab	cb7e462f79
9:135221659 SETX T>C	9	135221659	135221659	T	C	SETX	c.377A>G	NM_015046.7	NP_055861.3:p.(His126Arg)	NC_000009.11:g.135221659T>C	(Likely) benign	1 lab	cb84e7e58b
2:21224718 APOB G>A	2	21224718	21224718	G	A	APOB	c.13576C>T	NM_000384.3	NP_000375.3:p.(Gln4526Ter)	NC_000002.11:g.21224718G>A	VUS	1 lab	cb85ec813f
3:97486975 ARL6 A>C	3	97486975	97486975	A	C	ARL6	c.24A>C	NM_032146.5	NP_115522.1:p.(Ser8=)	NC_000003.11:g.97486975A>C	(Likely) benign	1 lab	cb865ad720
10:112541057 RBM20 G>A	10	112541057	112541057	G	A	RBM20	c.690G>A	NM_001134363.3	NP_001127835.2:p.(Glu230=)	NC_000010.10:g.112541057G>A	(Likely) benign	1 lab	cb8b9062a4
2:21230190 APOB G>A	2	21230190	21230190	G	A	APOB	c.9550C>T	NM_000384.3	NP_000375.3:p.(His3184Tyr)	NC_000002.11:g.21230190G>A	(Likely) benign	1 lab	cb8c2ad26c
X:130417204 IGSF1 AG>A	X	130417204	130417206	AG	A	IGSF1	c.701del	NM_001170961.2	NP_001164432.1:p.(Pro234LeufsTer11)	NC_000023.10:g.130417206del	(Likely) pathogenic	1 lab	cb92aa1911
8:144994888 PLEC G>A	8	144994888	144994888	G	A	PLEC	c.9512C>T	NM_201380.4	NP_958782.1:p.(Ala3171Val)	NC_000008.10:g.144994888G>A	(Likely) benign	1 lab	cb9c9cd1c8
11:47369654 MYBPC3 C>T	11	47369654	47369654	C	T	MYBPC3	c.773-198G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369654C>T	(Likely) benign	1 lab	cc1a8baaa1
16:88499956 ZNF469 G>C	16	88499956	88499956	G	C	ZNF469	c.6078G>C	NM_001367624.2	NP_001354553.1:p.(Leu2026=)	NC_000016.9:g.88499956G>C	(Likely) benign	1 lab	cba014d46f
1:26764735 DHDDS G>A	1	26764735	26764735	G	A	DHDDS	c.140G>A	NM_024887.4	NP_079163.2:p.(Arg47Gln)	NC_000001.10:g.26764735G>A	(Likely) benign	1 lab	cba175ab3b
2:166870268 SCN1A T>A	2	166870268	166870268	T	A	SCN1A	c.3691A>T	NM_001165963.4	NP_001159435.1:p.(Ser1231Cys)	NC_000002.11:g.166870268T>A	VUS	1 lab	cba541b0c4
2:44079563 ABCG8 G>T	2	44079563	44079563	G	T	ABCG8	c.632G>T	NM_022437.3	NP_071882.1:p.(Arg211Leu)	NC_000002.11:g.44079563G>T	VUS	1 lab	cba8efa79a
7:19100928 MISSING A>Alt too long to show for this DUP	7	19100928	19845635	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.19100932_19845635dup	(Likely) pathogenic	1 lab	cbabf917be
2:44047153 ABCG5 G>C	2	44047153	44047153	G	C	ABCG5	c.1550C>G	NM_022436.3	NP_071881.1:p.(Thr517Ser)	NC_000002.11:g.44047153G>C	(Likely) benign	1 lab	cbadad46c6
16:57005250 CETP C>T	16	57005250	57005250	C	T	CETP	c.615C>T	NM_000078.3	NP_000069.2:p.(Asn205=)	NC_000016.9:g.57005250C>T	(Likely) benign	1 lab	cbae3cec4d
14:68191906 RDH12 T>C	14	68191906	68191906	T	C	RDH12	c.278T>C	NM_152443.3	NP_689656.2:p.(Leu93Pro)	NC_000014.8:g.68191906T>C	(Likely) pathogenic	1 lab	cbaf3358f6
5:37157759 CPLANE1 AG>A	5	37157759	37157761	AG	A	CPLANE1	c.7957+12del	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37157761del	(Likely) benign	1 lab	cbb1a0a7a9
1:94570080 ABCA4 T>Alt too long to show for this DUP	1	94570080	94577661	T	Alt too long to show for this DUP	ABCA4	c.161-525_443-1383dup	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94570082_94577661dup	VUS	1 lab	cbb2581fb7
15:58834751 LIPC C>T	15	58834751	58834751	C	T	LIPC	c.475C>T	NM_000236.3	NP_000227.2:p.(Arg159Ter)	NC_000015.9:g.58834751C>T	VUS	1 lab	cbbbffdde0
15:73660051 HCN4 A>G	15	73660051	73660051	A	G	HCN4	c.561T>C	NM_005477.3	NP_005468.1:p.(Ala187=)	NC_000015.9:g.73660051A>G	(Likely) benign	1 lab	cbc104288e
11:116708077 APOA1 G>A	11	116708077	116708077	G	A	APOA1	c.27C>T	NM_001318017.2	NP_001304946.1:p.(Ala9=)	NC_000011.9:g.116708077G>A	(Likely) benign	1 lab	cbc9db75a7
22:41920948 ACO2 G>A	22	41920948	41920948	G	A	ACO2	c.1581G>A	NM_001098.3	NP_001089.1:p.(Pro527=)	NC_000022.10:g.41920948G>A	(Likely) benign	1 lab	cbcc12081c
2:179400845 TTN A>G	2	179400845	179400845	A	G	TTN	c.100629T>C	NM_001267550.2	NP_001254479.2:p.(Tyr33543=)	NC_000002.11:g.179400845A>G	(Likely) benign	1 lab	cbce4f7861
14:68200519 RDH12 G>A	14	68200519	68200519	G	A	RDH12	c.905G>A	NM_152443.3	NP_689656.2:p.(Arg302His)	NC_000014.8:g.68200519G>A	VUS	1 lab	cbd6da554d
16:57918107 CNGB1 C>A	16	57918107	57918107	C	A	CNGB1	c.3717G>T	NM_001297.5	NP_001288.3:p.(Ser1239=)	NC_000016.9:g.57918107C>A	(Likely) benign	1 lab	cbddbbc904
2:44101586 ABCG8 C>T	2	44101586	44101586	C	T	ABCG8	c.1452C>T	NM_022437.3	NP_071882.1:p.(Asp484=)	NC_000002.11:g.44101586C>T	(Likely) benign	1 lab	cbe0823d9f
10:55582796 PCDH15 T>TCAGAGACTTACTCTTGGCTTGTATTTTGGGTGAAAATGGGTCTACA	10	55582796	55582842	T	TCAGAGACTTACTCTTGGCTTGTATTTTGGGTGAAAATGGGTCTACA	PCDH15	c.4644_4689dup	NM_033056.4	NP_149045.3:p.(Arg1564CysfsTer13)	NC_000010.10:g.55582797_55582842dup	VUS	1 lab	cbe3344f83
12:49580436 TUBA1A C>T	12	49580436	49580436	C	T	TUBA1A	c.184G>A	NM_001270399.2	NP_001257328.1:p.(Val62Met)	NC_000012.11:g.49580436C>T	(Likely) pathogenic	1 lab	cbf81caa3d
2:21263908 APOB G>T	2	21263908	21263908	G	T	APOB	c.285C>A	NM_000384.3	NP_000375.3:p.(Ser95Arg)	NC_000002.11:g.21263908G>T	VUS	1 lab	cbfa93806e
3:33171525 CRTAP C>T	3	33171525	33171525	C	T	CRTAP	c.888C>T	NM_006371.5	NP_006362.1:p.(Thr296=)	NC_000003.11:g.33171525C>T	(Likely) benign	1 lab	cbfdf31fb9
18:72410616 ZNF407 Ref too long to show for this DEL>C	18	72410616	72417332	Ref too long to show for this DEL	C	ZNF407	c.4802+57540_4802+64254del	NM_017757.3	NP_060227.2:p.?	NC_000018.9:g.72410618_72417332del	VUS	1 lab	cc0300b872
11:61730637 BEST1 A>C	11	61730637	61730637	A	C	BEST1	c.*16A>C	NM_001139443.2	NP_001132915.1:p.?	NC_000011.9:g.61730637A>C	(Likely) benign	1 lab	cc11242cd5
12:21358671 SLCO1B1 TA>T	12	21358671	21358674	TA	T	SLCO1B1	c.1332-128del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358674del	(Likely) benign	1 lab	cc115af104
5:38493905 LIFR G>A	5	38493905	38493905	G	A	LIFR	c.1886-18C>T	NM_001127671.2	NP_001121143.1:p.?	NC_000005.9:g.38493905G>A	(Likely) benign	1 lab	cc160727ba
1:220332733 RAB3GAP2 G>A	1	220332733	220332733	G	A	RAB3GAP2	c.3256C>T	NM_012414.4	NP_036546.2:p.(Arg1086Ter)	NC_000001.10:g.220332733G>A	(Likely) pathogenic	1 lab	cc1aa30e18
17:58234067 CA4 G>A	17	58234067	58234067	G	A	CA4	c.259G>A	NM_000717.5	NP_000708.1:p.(Gly87Arg)	NC_000017.10:g.58234067G>A	(Likely) benign	1 lab	cc1b375b99
2:21233977 APOB T>C	2	21233977	21233977	T	C	APOB	c.5763A>G	NM_000384.3	NP_000375.3:p.(Gly1921=)	NC_000002.11:g.21233977T>C	(Likely) benign	1 lab	cc1bd38950
3:154859868 MME CAG>C	3	154859868	154859871	CAG	C	MME	c.1048_1049del	NM_007289.4	NP_009220.2:p.(Glu350IlefsTer6)	NC_000003.11:g.154859870_154859871del	(Likely) pathogenic	1 lab	cc1bdc09c0
3:38739400 SCN10A G>T	3	38739400	38739400	G	T	SCN10A	c.5311C>A	NM_006514.4	NP_006505.4:p.(Leu1771Ile)	NC_000003.11:g.38739400G>T	VUS	1 lab	cc2142fc3d
9:107624036 ABCA1 C>A	9	107624036	107624036	C	A	ABCA1	c.467G>T	NM_005502.4	NP_005493.2:p.(Gly156Val)	NC_000009.11:g.107624036C>A	VUS	1 lab	cc2159ada5
20:40688866 PTPRT Ref too long to show for this DEL>G	20	40688866	40817892	Ref too long to show for this DEL	G	PTPRT				NC_000020.10:g.40688868_40817892del	(Likely) pathogenic	1 lab	cc256312c7
19:11210954 LDLR C>T	19	11210954	11210954	C	T	LDLR	c.123C>T	NM_000527.5	NP_000518.1:p.(Ser41=)	NC_000019.9:g.11210954C>T	(Likely) benign	1 lab	cc2d606b9e
11:9809300 SBF2 A>G	11	9809300	9809300	A	G	SBF2	c.4933-15T>C	NM_030962.4	NP_112224.1:p.?	NC_000011.9:g.9809300A>G	(Likely) benign	1 lab	cc2defc00f
1:12049303 MFN2 A>G	1	12049303	12049303	A	G	MFN2	c.78A>G	NM_014874.4	NP_055689.1:p.(Ala26=)	NC_000001.10:g.12049303A>G	VUS	1 lab	cc31b088c2
22:33432435 MISSING G>Alt too long to show for this DUP	22	33432435	34083453	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.33432436_34083453dup	VUS	1 lab	cc33bec8e9
2:179411489 TTN A>G	2	179411489	179411489	A	G	TTN	c.94666T>C	NM_001267550.2	NP_001254479.2:p.(Trp31556Arg)	NC_000002.11:g.179411489A>G	VUS	1 lab	cc353356eb
1:63070419 ANGPTL3 T>C	1	63070419	63070419	T	C	ANGPTL3	c.1314T>C	NM_014495.4	NP_055310.1:p.(Asn438=)	NC_000001.10:g.63070419T>C	(Likely) benign	1 lab	cc37ea26e6
1:161332106 SDHC G>T	1	161332106	161332106	G	T	SDHC	c.406-13G>T	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332106G>T	(Likely) benign	1 lab	cc38407bf4
14:23887511 MYH7 G>A	14	23887511	23887511	G	A	MYH7	c.4077C>T	NM_000257.4	NP_000248.2:p.(Arg1359=)	NC_000014.8:g.23887511G>A	(Likely) benign	1 lab	cc3ccdaa29
8:19811635 LPL C>T	8	19811635	19811635	C	T	LPL	c.546C>T	NM_000237.3	NP_000228.1:p.(Leu182=)	NC_000008.10:g.19811635C>T	(Likely) benign	1 lab	cc49d72938
4:120126492 MISSING A>Alt too long to show for this DUP	4	120126492	120318574	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.120126493_120318574dup	VUS	1 lab	cc56557ba9
18:19444473 MIB1 A>G	18	19444473	19444473	A	G	MIB1	c.2881-14A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19444473A>G	(Likely) benign	1 lab	cc5798f807
8:42286318 SLC20A2 G>A	8	42286318	42286318	G	A	SLC20A2	c.1752C>T	NM_001257180.2	NP_001244109.1:p.(Ile584=)	NC_000008.10:g.42286318G>A	(Likely) benign	1 lab	cc5ab1946e
2:179584950 TTN G>A	2	179584950	179584950	G	A	TTN	c.23419C>T	NM_001267550.2	NP_001254479.2:p.(Leu7807Phe)	NC_000002.11:g.179584950G>A	VUS	1 lab	cc5fbc0e2f
18:12199789 MISSING Ref too long to show for this DEL>T	18	12199789	12261468	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.12199790_12261468del	VUS	1 lab	cc627e1285
2:105979939 FHL2 G>A	2	105979939	105979939	G	A	FHL2	c.502-11C>T	NM_001318895.3	NP_001305824.1:p.?	NC_000002.11:g.105979939G>A	(Likely) benign	1 lab	cc6508b1a0
12:9002920 A2ML1 C>T	12	9002920	9002920	C	T	A2ML1	c.2234+50C>T	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.9002920C>T	(Likely) benign	1 lab	cc6f146562
2:219527906 BCS1L G>A	2	219527906	219527906	G	A	BCS1L	c.1057G>A	NM_004328.5	NP_004319.1:p.(Val353Met)	NC_000002.11:g.219527906G>A	(Likely) pathogenic	1 lab	cc6f78496e
3:7984998 MISSING A>Alt too long to show for this DUP	3	7984998	8280341	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.7984999_8280341dup	VUS	1 lab	cc73375aa0
X:76849320 ATRX C>T	X	76849320	76849320	C	T	ATRX	c.5957-1G>A	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76849320C>T	(Likely) pathogenic	1 lab	cc8140639d
7:128483924 FLNC C>T	7	128483924	128483924	C	T	FLNC	c.2886C>T	NM_001458.5	NP_001449.3:p.(Pro962=)	NC_000007.13:g.128483924C>T	(Likely) benign	1 lab	cc81ef1057
12:122064779 ORAI1 ACCGCCA>CCGCCG	12	122064779	122064785	ACCGCCA	CCGCCG	ORAI1	c.132delinsCCGCCG	NM_032790.3	NP_116179.2:p.(Pro45ArgfsTer21)	NC_000012.11:g.122064779_122064785delinsCCGCCG	(Likely) benign	1 lab	cc93432bf6
16:23221111 SCNN1G C>T	16	23221111	23221111	C	T	SCNN1G	c.1118C>T	NM_001039.4	NP_001030.2:p.(Thr373Met)	NC_000016.9:g.23221111C>T	VUS	1 lab	cc96cf22d7
9:107594972 ABCA1 C>A	9	107594972	107594972	C	A	ABCA1	c.1392G>T	NM_005502.4	NP_005493.2:p.(Val464=)	NC_000009.11:g.107594972C>A	(Likely) benign	1 lab	cc989e22b2
11:2549352 KCNQ1 C>G	11	2549352	2549352	C	G	KCNQ1	c.477+104C>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2549352C>G	(Likely) benign	1 lab	cc9f0fe121
7:103644442 MISSING Ref too long to show for this DEL>T	7	103644442	105451545	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.103644445_105451545del	(Likely) pathogenic	1 lab	cca331127f
19:2121822 AP3D1 C>T	19	2121822	2121822	C	T	AP3D1	c.1012G>A	NM_001261826.3	NP_001248755.1:p.(Val338Met)	NC_000019.9:g.2121822C>T	(Likely) benign	1 lab	cca458bd7e
15:45392351 DUOX2 C>T	15	45392351	45392351	C	T	DUOX2	c.3081G>A	NM_014080.5	NP_054799.4:p.(Lys1027=)	NC_000015.9:g.45392351C>T	(Likely) benign	1 lab	cca5069318
15:58840586 LIPC C>T	15	58840586	58840586	C	T	LIPC	c.866C>T	NM_000236.3	NP_000227.2:p.(Ser289Phe)	NC_000015.9:g.58840586C>T	VUS	1 lab	cca63efe16
5:64081349 CWC27 A>G	5	64081349	64081349	A	G	CWC27	c.438A>G	NM_001297645.2	NP_001284574.1:p.(Glu146=)	NC_000005.9:g.64081349A>G	(Likely) benign	1 lab	cca6ef3a18
12:54677008 HNRNPA1 C>T	12	54677008	54677008	C	T	HNRNPA1	c.897C>T	NM_031157.4	NP_112420.1:p.(Gly299=)	NC_000012.11:g.54677008C>T	(Likely) benign	1 lab	cca7507066
1:63063515 ANGPTL3 A>G	1	63063515	63063515	A	G	ANGPTL3	c.278A>G	NM_014495.4	NP_055310.1:p.(Lys93Arg)	NC_000001.10:g.63063515A>G	VUS	1 lab	cca7d04f92
12:76739847 BBS10 T>C	12	76739847	76739847	T	C	BBS10	c.1918A>G	NM_024685.4	NP_078961.3:p.(Ile640Val)	NC_000012.11:g.76739847T>C	(Likely) benign	1 lab	ccaa3a0db3
8:19811160 LPL T>C	8	19811160	19811160	T	C	LPL	c.541+228T>C	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19811160T>C	(Likely) benign	1 lab	ccaa9ac9d4
16:90001273 TUBB3 G>A	16	90001273	90001273	G	A	TUBB3	c.198G>A	NM_001197181.2	NP_001184110.1:p.(Ser66=)	NC_000016.9:g.90001273G>A	(Likely) benign	1 lab	ccb10f4422
19:17985018 SLC5A5 T>C	19	17985018	17985018	T	C	SLC5A5	c.423+6T>C	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17985018T>C	(Likely) benign	1 lab	ccb9dec616
18:19427015 MIB1 A>G	18	19427015	19427015	A	G	MIB1	c.2322A>G	NM_020774.4	NP_065825.1:p.(Gln774=)	NC_000018.9:g.19427015A>G	(Likely) benign	1 lab	ccbb52673b
4:88537088 DSPP A>G	4	88537088	88537088	A	G	DSPP	c.3274A>G	NM_014208.3	NP_055023.2:p.(Asn1092Asp)	NC_000004.11:g.88537088A>G	(Likely) benign	1 lab	ccbdc3e373
11:68191051 LRP5 C>T	11	68191051	68191051	C	T	LRP5	c.3122C>T	NM_002335.4	NP_002326.2:p.(Thr1041Met)	NC_000011.9:g.68191051C>T	VUS	1 lab	ccc1626eff
1:215813967 USH2A G>A	1	215813967	215813967	G	A	USH2A	c.14901C>T	NM_206933.4	NP_996816.3:p.(Thr4967=)	NC_000001.10:g.215813967G>A	(Likely) benign	1 lab	ccc2e7d56d
15:48707932 FBN1 C>T	15	48707932	48707932	C	T	FBN1	c.7852G>A	NM_000138.5	NP_000129.3:p.(Gly2618Arg)	NC_000015.9:g.48707932C>T	(Likely) benign	1 lab	cccd2045be
11:76867890 MYO7A A>G	11	76867890	76867890	A	G	MYO7A	c.593-18A>G	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76867890A>G	(Likely) benign	1 lab	cccf653162
2:21229619 APOB A>G	2	21229619	21229619	A	G	APOB	c.10121T>C	NM_000384.3	NP_000375.3:p.(Ile3374Thr)	NC_000002.11:g.21229619A>G	VUS	1 lab	ccd7c762f0
16:77465352 ADAMTS18 A>C	16	77465352	77465352	A	C	ADAMTS18	c.335T>G	NM_199355.4	NP_955387.1:p.(Leu112Arg)	NC_000016.9:g.77465352A>C	(Likely) pathogenic	1 lab	ccd9e2e7ba
4:100530095 MTTP C>T	4	100530095	100530095	C	T	MTTP	c.1730C>T	NM_000253.4	NP_000244.2:p.(Ala577Val)	NC_000004.11:g.100530095C>T	VUS	1 lab	ccde6c794e
15:72040859 THSD4 C>T	15	72040859	72040859	C	T	THSD4	c.2341C>T	NM_024817.2	NP_079093.2:p.(Arg781Trp)	NC_000015.9:g.72040859C>T	(Likely) pathogenic	1 lab	cce6205ff4
X:105152945 NRK C>T	X	105152945	105152945	C	T	NRK	c.1312C>T	NM_198465.4	NP_940867.2:p.(Arg438Ter)	NC_000023.10:g.105152945C>T	VUS	1 lab	cce648555b
14:23884415 MYH7 T>G	14	23884415	23884415	T	G	MYH7	c.5348A>C	NM_000257.4	NP_000248.2:p.(Lys1783Thr)	NC_000014.8:g.23884415T>G	VUS	1 lab	cceadc9eff
20:61450660 COL9A3 C>CCCT	20	61450660	61450665	C	CCCT	COL9A3	c.255+18_255+20dup	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61450663_61450665dup	(Likely) benign	1 lab	cceae5dd07
12:1969296 CACNA2D4 G>A	12	1969296	1969296	G	A	CACNA2D4	c.1940+15C>T	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1969296G>A	(Likely) benign	1 lab	ccee602921
2:21232203 APOB G>C	2	21232203	21232203	G	C	APOB	c.7537C>G	NM_000384.3	NP_000375.3:p.(Arg2513Gly)	NC_000002.11:g.21232203G>C	VUS	1 lab	ccf1a9eb16
19:11224440 LDLR T>C	19	11224440	11224440	T	C	LDLR	c.1586+2T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11224440T>C	(Likely) pathogenic	1 lab	ccf77eba12
1:54360103 DIO1 G>A	1	54360103	54360103	G	A	DIO1	c.220G>A	NM_000792.7	NP_000783.2:p.(Val74Ile)	NC_000001.10:g.54360103G>A	VUS	1 lab	ccf92d1e63
18:5292207 ZBTB14 C>CA	18	5292207	5292220	C	CA	ZBTB14	c.4-5dup	NM_001143823.3	NP_001137295.1:p.?	NC_000018.9:g.5292220dup	(Likely) benign	1 lab	ccfacb3503
2:219679764 CYP27A1 C>T	2	219679764	219679764	C	T	CYP27A1	c.*11C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219679764C>T	VUS	1 lab	ccfb309cee
4:74277724 ALB G>A	4	74277724	74277724	G	A	ALB	c.725G>A	NM_000477.7	NP_000468.1:p.(Arg242His)	NC_000004.11:g.74277724G>A	(Likely) pathogenic	1 lab	ccfd6c40ef
14:76429955 TGFB3 G>A	14	76429955	76429955	G	A	TGFB3	c.755-125C>T	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76429955G>A	(Likely) benign	1 lab	ccfe41b58a
18:47101835 LIPG C>T	18	47101835	47101835	C	T	LIPG	c.668C>T	NM_006033.4	NP_006024.1:p.(Thr223Met)	NC_000018.9:g.47101835C>T	VUS	1 lab	ccfe530011
10:73572380 CDH23 G>A	10	73572380	73572380	G	A	CDH23	c.9510+14G>A	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73572380G>A	(Likely) benign	1 lab	ccfefcd566
19:11215970 LDLR T>C	19	11215970	11215970	T	C	LDLR	c.388T>C	NM_000527.5	NP_000518.1:p.(Ser130Pro)	NC_000019.9:g.11215970T>C	(Likely) benign	1 lab	cd01edb337
19:17999239 SLC5A5 C>T	19	17999239	17999239	C	T	SLC5A5	c.1626C>T	NM_000453.3	NP_000444.1:p.(Cys542=)	NC_000019.9:g.17999239C>T	(Likely) benign	1 lab	cd049da17b
18:58039429 MC4R CA>C	18	58039429	58039432	CA	C	MC4R	c.153del	NM_005912.3	NP_005903.2:p.(Phe51LeufsTer2)	NC_000018.9:g.58039432del	(Likely) pathogenic	1 lab	cd08e9dfcd
2:105979900 FHL2 C>T	2	105979900	105979900	C	T	FHL2	c.530G>A	NM_201555.2	NP_963849.1:p.(Arg177Gln)	NC_000002.11:g.105979900C>T	(Likely) benign	1 lab	cd12163bac
6:56362288 DST G>A	6	56362288	56362288	G	A	DST	c.13755C>T	NM_001144769.5	NP_001138241.1:p.(Gly4585=)	NC_000006.11:g.56362288G>A	(Likely) benign	1 lab	cd14a664de
5:127712557 FBN2 G>A	5	127712557	127712557	G	A	FBN2	c.1850-11C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127712557G>A	(Likely) benign	1 lab	cd153006f9
11:2798230 KCNQ1 T>C	11	2798230	2798230	T	C	KCNQ1	c.1700T>C	NM_000218.3	NP_000209.2:p.(Ile567Thr)	NC_000011.9:g.2798230T>C	(Likely) pathogenic	1 lab	cd1dbeba10
11:66294278 BBS1 G>A	11	66294278	66294278	G	A	BBS1	c.1339G>A	NM_024649.5	NP_078925.3:p.(Ala447Thr)	NC_000011.9:g.66294278G>A	(Likely) pathogenic	1 lab	cd1f349ad4
17:48265492 COL1A1 CG>C	17	48265492	48265494	CG	C	COL1A1	c.3225del	NM_000088.4	NP_000079.2:p.(Gly1076ValfsTer32)	NC_000017.10:g.48265494del	(Likely) pathogenic	1 lab	cd201e2798
11:2466597 KCNQ1 GC>G	11	2466597	2466598	GC	G	KCNQ1	c.270del	NM_000218.3	NP_000209.2:p.(Val91SerfsTer146)	NC_000011.9:g.2466598del	(Likely) pathogenic	1 lab	cd269268ca
14:97322567 VRK1 T>C	14	97322567	97322567	T	C	VRK1	c.810T>C	NM_003384.3	NP_003375.1:p.(Tyr270=)	NC_000014.8:g.97322567T>C	(Likely) benign	1 lab	cd2e7d1306
7:138554411 KIAA1549 C>T	7	138554411	138554411	C	T	KIAA1549	c.4648G>A	NM_020910.3	NP_065961.2:p.(Val1550Ile)	NC_000007.13:g.138554411C>T	(Likely) benign	1 lab	cd358c263a
19:11217240 LDLR G>A	19	11217240	11217240	G	A	LDLR	c.695-1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217240G>A	(Likely) pathogenic	1 lab	cd36f21de6
5:37183805 CPLANE1 T>C	5	37183805	37183805	T	C	CPLANE1	c.4482-4A>G	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37183805T>C	(Likely) benign	1 lab	cd3740cdb1
12:7242942 C1R C>T	12	7242942	7242942	C	T	C1R	c.232-98G>A	NM_001733.7	NP_001724.4:p.?	NC_000012.11:g.7242942C>T	(Likely) benign	1 lab	cd38fd0129
7:128783447 MISSING G>Alt too long to show for this DUP	7	128783447	129014316	G	Alt too long to show for this DUP	MISSING				NC_000007.13:g.128783448_129014316dup	VUS	1 lab	cd3e9209ee
8:100123495 VPS13B A>G	8	100123495	100123495	A	G	VPS13B	c.750A>G	NM_017890.5	NP_060360.3:p.(Pro250=)	NC_000008.10:g.100123495A>G	(Likely) benign	1 lab	cd4037801a
9:113137745 SVEP1 TAAA>T	9	113137745	113137770	TAAA	T	SVEP1	c.10505-5_10505-3del	NM_153366.4	NP_699197.3:p.?	NC_000009.11:g.113137768_113137770del	(Likely) benign	1 lab	cd4043d0e6
7:150647293 KCNH2 G>A	7	150647293	150647293	G	A	KCNH2	c.2361C>T	NM_000238.4	NP_000229.1:p.(Ile787=)	NC_000007.13:g.150647293G>A	(Likely) benign	1 lab	cd40ead568
11:1018286 MUC6 G>T	11	1018286	1018286	G	T	MUC6	c.4515C>A	NM_005961.3	NP_005952.2:p.(Thr1505=)	NC_000011.9:g.1018286G>T	(Likely) benign	1 lab	cd44c17e15
6:82461727 TENT5A A>ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	6	82461727	82461789	A	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	TENT5A	c.87_131dup	NM_017633.3	NP_060103.2:p.(Asp31_Gly45dup)	NC_000006.11:g.82461745_82461789dup	(Likely) benign	1 lab	cd48d18025
2:21234602 APOB G>A	2	21234602	21234602	G	A	APOB	c.5138C>T	NM_000384.3	NP_000375.3:p.(Ala1713Val)	NC_000002.11:g.21234602G>A	VUS	1 lab	cd4979b02c
9:107576246 ABCA1 G>A	9	107576246	107576246	G	A	ABCA1	c.3901+153C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107576246G>A	(Likely) benign	1 lab	cd4a1b296e
17:10543122 MYH3 TA>T	17	10543122	10543132	TA	T	MYH3	c.2683-4del	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543132del	(Likely) benign	1 lab	cd4c4dea16
1:75006003 FPGT-TNNI3K T>C	1	75006003	75006003	T	C	FPGT-TNNI3K	c.2734+6T>C	NM_001112808.3	NP_001106279.3:p.?	NC_000001.10:g.75006003T>C	(Likely) benign	1 lab	cd4c560cd8
20:5548208 GPCPD1 TA>T	20	5548208	5548224	TA	T	GPCPD1	c.1150-3del	NM_019593.5	NP_062539.1:p.?	NC_000020.10:g.5548224del	(Likely) benign	1 lab	cd522242a8
16:53725961 RPGRIP1L C>T	16	53725961	53725961	C	T	RPGRIP1L	c.529+17G>A	NM_001308334.3	NP_001295263.1:p.?	NC_000016.9:g.53725961C>T	(Likely) benign	1 lab	cd5464f19d
X:77372897 PGK1 C>T	X	77372897	77372897	C	T	PGK1	c.506C>T	NM_000291.4	NP_000282.1:p.(Ala169Val)	NC_000023.10:g.77372897C>T	(Likely) benign	1 lab	cd58c23add
2:179471759 TTN A>G	2	179471759	179471759	A	G	TTN	c.53570T>C	NM_001267550.2	NP_001254479.2:p.(Val17857Ala)	NC_000002.11:g.179471759A>G	VUS	1 lab	cd5926d46b
20:57597954 TUBB1 G>A	20	57597954	57597954	G	A	TUBB1	c.112G>A	NM_030773.4	NP_110400.1:p.(Gly38Arg)	NC_000020.10:g.57597954G>A	(Likely) benign	1 lab	cd5ba87bcf
16:89348546 ANKRD11 T>C	16	89348546	89348546	T	C	ANKRD11	c.4404A>G	NM_001256182.2	NP_001243111.1:p.(Lys1468=)	NC_000016.9:g.89348546T>C	(Likely) benign	1 lab	cd5cb56141
4:114280441 ANK2 A>G	4	114280441	114280441	A	G	ANK2	c.10667A>G	NM_001148.6	NP_001139.3:p.(His3556Arg)	NC_000004.11:g.114280441A>G	VUS	1 lab	cd5f8298c6
10:104809606 CNNM2 C>T	10	104809606	104809606	C	T	CNNM2	c.1764C>T	NM_199076.3	NP_951058.1:p.(Tyr588=)	NC_000010.10:g.104809606C>T	(Likely) benign	1 lab	cd61099a8c
14:68193819 RDH12 C>T	14	68193819	68193819	C	T	RDH12	c.570C>T	NM_152443.3	NP_689656.2:p.(Ser190=)	NC_000014.8:g.68193819C>T	VUS	1 lab	cd62cbb419
19:19920005 ZNF506 Ref too long to show for this DEL>A	19	19920005	19928391	Ref too long to show for this DEL	A	ZNF506	c.3+4019_4-2129del	NM_001099269.3	NP_001092739.1:p.?	NC_000019.9:g.19920006_19928391del	VUS	1 lab	cd64d91b01
1:103354154 COL11A1 A>G	1	103354154	103354154	A	G	COL11A1	c.4623T>C	NM_080629.3	NP_542196.2:p.(Leu1541=)	NC_000001.10:g.103354154A>G	(Likely) benign	1 lab	cd66346ebf
15:28261333 OCA2 C>G	15	28261333	28261333	C	G	OCA2	c.808-1G>C	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28261333C>G	(Likely) pathogenic	1 lab	cd6a0837f0
15:58724217 LIPC G>A	15	58724217	58724217	G	A	LIPC	c.-15G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58724217G>A	(Likely) benign	1 lab	cd6ad9a905
9:107353894 MISSING G>Alt too long to show for this DUP	9	107353894	107374469	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.107353896_107374469dup	VUS	1 lab	cd6cef2d45
6:79724781 PHIP G>A	6	79724781	79724781	G	A	PHIP	c.1524+18C>T	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79724781G>A	(Likely) benign	1 lab	cd6e2ecd3c
2:21252534 APOB G>A	2	21252534	21252534	G	A	APOB	c.1594C>T	NM_000384.3	NP_000375.3:p.(Arg532Trp)	NC_000002.11:g.21252534G>A	(Likely) benign	1 lab	cd71a19e4d
17:45214633 CDC27 A>C	17	45214633	45214633	A	C	CDC27	c.1816T>G	NM_001114091.4	NP_001107563.1:p.(Tyr606Asp)	NC_000017.10:g.45214633A>C	(Likely) benign	1 lab	cd7497d043
1:2235396 SKI C>T	1	2235396	2235396	C	T	SKI	c.1329C>T	NM_003036.4	NP_003027.1:p.(Pro443=)	NC_000001.10:g.2235396C>T	(Likely) benign	1 lab	cd776dde75
18:47110111 LIPG G>A	18	47110111	47110111	G	A	LIPG	c.1343G>A	NM_006033.4	NP_006024.1:p.(Arg448His)	NC_000018.9:g.47110111G>A	VUS	1 lab	cd7dad348b
4:114286357 ANK2 A>ATGTGTGTG	4	114286357	114286388	A	ATGTGTGTG	ANK2	c.11032+43_11032+50dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286381_114286388dup	(Likely) benign	1 lab	cd81ab9a46
6:32489757 HLA-DRB5 CT>C	6	32489757	32489759	CT	C	HLA-DRB5	c.294del	NM_002125.4	NP_002116.2:p.(Asp99ThrfsTer30)	NC_000006.11:g.32489759del	(Likely) benign	1 lab	cd846f3556
15:56387819 RFX7 CTGAATGTG>C	15	56387819	56387827	CTGAATGTG	C	RFX7	c.2099_2106del	NM_022841.7	NP_073752.6:p.(Pro700ArgfsTer14)	NC_000015.9:g.56387820_56387827del	(Likely) pathogenic	1 lab	cd85fbbe3b
2:21230763 APOB C>T	2	21230763	21230763	C	T	APOB	c.8977G>A	NM_000384.3	NP_000375.3:p.(Asp2993Asn)	NC_000002.11:g.21230763C>T	VUS	1 lab	cd8a0713c7
2:179615210 TTN G>A	2	179615210	179615210	G	A	TTN	c.10360+2641C>T	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179615210G>A	VUS	1 lab	cd8e4a4a86
13:114438252 GRK1 G>A	13	114438252	114438252	G	A	GRK1	c.1608G>A	NM_002929.3	NP_002920.1:p.(Ser536=)	NC_000013.10:g.114438252G>A	(Likely) benign	1 lab	cd8f0224f7
8:10480118 RP1L1 C>T	8	10480118	10480118	C	T	RP1L1	c.594G>A	NM_178857.6	NP_849188.4:p.(Thr198=)	NC_000008.10:g.10480118C>T	(Likely) benign	1 lab	cd932726a0
8:24811293 NEFL C>T	8	24811293	24811293	C	T	NEFL	c.1186G>A	NM_006158.5	NP_006149.2:p.(Glu396Lys)	NC_000008.10:g.24811293C>T	(Likely) pathogenic	1 lab	cd962f3d0f
19:11221925 LDLR CA>C	19	11221925	11221935	CA	C	LDLR	c.1061-255del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221935del	(Likely) benign	1 lab	cd963e41c9
3:49592089 BSN C>G	3	49592089	49592089	C	G	BSN	c.54C>G	NM_003458.4	NP_003449.2:p.(Pro18=)	NC_000003.11:g.49592089C>G	(Likely) benign	1 lab	cd989bb84a
2:21257677 APOB G>C	2	21257677	21257677	G	C	APOB	c.904+11C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21257677G>C	(Likely) benign	1 lab	cd991bfa3f
12:990007 WNK1 C>G	12	990007	990007	C	G	WNK1	c.3733C>G	NM_001184985.2	NP_001171914.1:p.(Leu1245Val)	NC_000012.11:g.990007C>G	VUS	1 lab	cd9c7c6d0c
6:119136331 MCM9 G>A	6	119136331	119136331	G	A	MCM9	c.3088C>T	NM_017696.3	NP_060166.2:p.(His1030Tyr)	NC_000006.11:g.119136331G>A	VUS	1 lab	cda0078388
16:29628660 MISSING T>Alt too long to show for this DUP	16	29628660	30177224	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29628661_30177224dup	(Likely) pathogenic	1 lab	cda21ff4cf
7:94045735 COL1A2 G>A	7	94045735	94045735	G	A	COL1A2	c.1783G>A	NM_000089.4	NP_000080.2:p.(Gly595Ser)	NC_000007.13:g.94045735G>A	(Likely) pathogenic	1 lab	cdaeed6eda
4:55455238 MISSING A>Alt too long to show for this DUP	4	55455238	55698677	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.55455241_55698677dup	VUS	1 lab	cdb0711ca8
12:125298808 SCARB1 G>A	12	125298808	125298808	G	A	SCARB1	c.570C>T	NM_001367981.1	NP_001354910.1:p.(Leu190=)	NC_000012.11:g.125298808G>A	(Likely) benign	1 lab	cdb5d1380f
X:140122453 MISSING Ref too long to show for this DEL>C	X	140122453	140666287	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.140122456_140666287del	VUS	1 lab	cdbc4d77e4
4:658692 PDE6B G>A	4	658692	658692	G	A	PDE6B	c.2152G>A	NM_000283.4	NP_000274.3:p.(Asp718Asn)	NC_000004.11:g.658692G>A	(Likely) pathogenic	1 lab	cdc340e851
2:105472687 POU3F3 CCGG>C	2	105472687	105472707	CCGG	C	POU3F3	c.737_739del	NM_006236.3	NP_006227.1:p.(Gly246del)	NC_000002.11:g.105472705_105472707del	(Likely) benign	1 lab	cdeffc3679
1:874816 SAMD11 CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT>C	1	874816	874888	CCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCT	C	SAMD11	c.706_706+48del	NM_152486.4	NP_689699.3:p.?	NC_000001.10:g.874840_874888del	(Likely) benign	1 lab	cdc61949ca
2:44101038 ABCG8 C>T	2	44101038	44101038	C	T	ABCG8	c.1324C>T	NM_022437.3	NP_071882.1:p.(Gln442Ter)	NC_000002.11:g.44101038C>T	(Likely) pathogenic	1 lab	cdc6628d2b
16:67976822 LCAT G>A	16	67976822	67976822	G	A	LCAT	c.369C>T	NM_000229.2	NP_000220.1:p.(Arg123=)	NC_000016.9:g.67976822G>A	(Likely) benign	1 lab	cdc7d16b77
5:172660519 NKX2-5 A>T	5	172660519	172660519	A	T	NKX2-5	c.335-15T>A	NM_001166175.2	NP_001159647.1:p.?	NC_000005.9:g.172660519A>T	(Likely) benign	1 lab	cdc9610a8a
1:236881561 ACTN2 C>G	1	236881561	236881561	C	G	ACTN2	c.241+289C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236881561C>G	(Likely) benign	1 lab	cdcb9edd25
16:1652359 IFT140 G>A	16	1652359	1652359	G	A	IFT140	c.369+12C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1652359G>A	(Likely) benign	1 lab	cdcc87b285
18:77170477 NFATC1 C>A	18	77170477	77170477	C	A	NFATC1	c.202C>A	NM_001278669.2	NP_001265598.1:p.(Pro68Thr)	NC_000018.9:g.77170477C>A	(Likely) benign	1 lab	cdcc969812
1:236894562 ACTN2 C>T	1	236894562	236894562	C	T	ACTN2	c.645C>T	NM_001103.4	NP_001094.1:p.(Ala215=)	NC_000001.10:g.236894562C>T	(Likely) benign	1 lab	cdd33fd88d
2:238289926 COL6A3 G>A	2	238289926	238289926	G	A	COL6A3	c.1529C>T	NM_004369.4	NP_004360.2:p.(Thr510Ile)	NC_000002.11:g.238289926G>A	VUS	1 lab	cdd5a3e9f9
16:57003607 CETP G>A	16	57003607	57003607	G	A	CETP	c.439+14G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003607G>A	(Likely) benign	1 lab	cdd5a6fcad
6:75848169 COL12A1 C>T	6	75848169	75848169	C	T	COL12A1	c.5225G>A	NM_004370.6	NP_004361.3:p.(Arg1742His)	NC_000006.11:g.75848169C>T	(Likely) benign	1 lab	cdd5d6fc74
X:119582959 LAMP2 A>G	X	119582959	119582959	A	G	LAMP2	c.422T>C	NM_002294.3	NP_002285.1:p.(Leu141Ser)	NC_000023.10:g.119582959A>G	VUS	1 lab	cdda133d21
2:219646938 CYP27A1 G>A	2	219646938	219646938	G	A	CYP27A1	c.33G>A	NM_000784.4	NP_000775.1:p.(Trp11Ter)	NC_000002.11:g.219646938G>A	(Likely) pathogenic	1 lab	cde2050724
22:30886885 MISSING C>Alt too long to show for this DUP	22	30886885	30929282	C	Alt too long to show for this DUP	MISSING				NC_000022.10:g.30886886_30929282dup	VUS	1 lab	cde9717e5e
5:251428 SDHA CT>C	5	251428	251429	CT	C	SDHA	c.1664-24del	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.251429del	(Likely) benign	1 lab	cdf26bbb04
1:1643740 CDK11A C>T	1	1643740	1643740	C	T	CDK11A	c.558G>A	NM_001313896.2	NP_001300825.1:p.(Ala186=)	NC_000001.10:g.1643740C>T	(Likely) benign	1 lab	cdf37a7eb2
7:81641570 CACNA2D1 G>GGAAA	7	81641570	81641571	G	GGAAA	CACNA2D1	c.1273-12_1273-11insTTTC	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81641570_81641571insGAAA	(Likely) benign	1 lab	cdf543f277
2:21229937 APOB G>A	2	21229937	21229937	G	A	APOB	c.9803C>T	NM_000384.3	NP_000375.3:p.(Ser3268Leu)	NC_000002.11:g.21229937G>A	VUS	1 lab	cdfb1bc6f4
17:48270043 COL1A1 G>A	17	48270043	48270043	G	A	COL1A1	c.1887C>T	NM_000088.4	NP_000079.2:p.(Gly629=)	NC_000017.10:g.48270043G>A	VUS	1 lab	ce01832631
22:22997801 MISSING Ref too long to show for this DEL>T	22	22997801	23652586	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.22997803_23652586del	(Likely) pathogenic	1 lab	ce01d17139
2:179553385 TTN CT>C	2	179553385	179553386	CT	C	TTN	c.32197+18del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179553386del	(Likely) benign	1 lab	ce03cb886e
1:40770477 COL9A2 T>G	1	40770477	40770477	T	G	COL9A2	c.1150A>C	NM_001852.4	NP_001843.1:p.(Met384Leu)	NC_000001.10:g.40770477T>G	(Likely) benign	1 lab	ce099884cd
12:76804316 MISSING A>Alt too long to show for this DUP	12	76804316	77358027	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.76804318_77358027dup	VUS	1 lab	ce09b47ab2
15:48800763 FBN1 G>A	15	48800763	48800763	G	A	FBN1	c.1837+16C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48800763G>A	(Likely) benign	1 lab	ce0a62d5bf
1:161276136 MPZ G>T	1	161276136	161276136	G	T	MPZ	c.567C>A	NM_000530.8	NP_000521.2:p.(Ala189=)	NC_000001.10:g.161276136G>T	(Likely) benign	1 lab	ce1a081010
3:61890 MISSING Ref too long to show for this DEL>A	3	61890	3552756	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.61892_3552756del	(Likely) pathogenic	1 lab	ce29d1a78b
1:236890964 ACTN2 C>T	1	236890964	236890964	C	T	ACTN2	c.-285-14C>T	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236890964C>T	(Likely) benign	1 lab	ce2b35ce7f
2:179648830 TTN C>A	2	179648830	179648830	C	A	TTN	c.2742G>T	NM_001267550.2	NP_001254479.2:p.(Glu914Asp)	NC_000002.11:g.179648830C>A	VUS	1 lab	ce333ed92d
2:44102548 ABCG8 G>C	2	44102548	44102548	G	C	ABCG8	c.1752G>C	NM_022437.3	NP_071882.1:p.(Trp584Cys)	NC_000002.11:g.44102548G>C	(Likely) benign	1 lab	ce33a30d5a
2:179572547 TTN T>A	2	179572547	179572547	T	A	TTN	c.28754-7A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179572547T>A	(Likely) benign	1 lab	ce34cd7ba0
13:114322271 GRK1 C>A	13	114322271	114322271	C	A	GRK1	c.570C>A	NM_002929.3	NP_002920.1:p.(Phe190Leu)	NC_000013.10:g.114322271C>A	VUS	1 lab	ce3744fa01
16:23149550 MISSING Ref too long to show for this DEL>G	16	23149550	24788016	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.23149551_24788016del	(Likely) pathogenic	1 lab	ce3fd11039
2:44078950 ABCG8 C>T	2	44078950	44078950	C	T	ABCG8	c.550C>T	NM_022437.3	NP_071882.1:p.(Arg184Cys)	NC_000002.11:g.44078950C>T	VUS	1 lab	ce47f5c912
9:135203159 SETX G>C	9	135203159	135203159	G	C	SETX	c.3826C>G	NM_015046.7	NP_055861.3:p.(Gln1276Glu)	NC_000009.11:g.135203159G>C	(Likely) benign	1 lab	ce4a2418da
X:70443772 GJB1 C>T	X	70443772	70443772	C	T	GJB1	c.215C>T	NM_000166.6	NP_000157.1:p.(Ser72Phe)	NC_000023.10:g.70443772C>T	VUS	1 lab	ce4c1bd3c5
11:121384918 SORL1 A>G	11	121384918	121384918	A	G	SORL1	c.1099A>G	NM_003105.6	NP_003096.2:p.(Asn367Asp)	NC_000011.9:g.121384918A>G	(Likely) benign	1 lab	ce53cb6f9a
8:90796369 RIPK2 T>TAA	8	90796369	90796392	T	TAA	RIPK2	c.1029+24_1029+25dup	NM_003821.6	NP_003812.1:p.?	NC_000008.10:g.90796391_90796392dup	(Likely) benign	1 lab	ce5678d146
2:15534410 NBAS T>C	2	15534410	15534410	T	C	NBAS	c.3198A>G	NM_015909.4	NP_056993.2:p.(Gln1066=)	NC_000002.11:g.15534410T>C	(Likely) benign	1 lab	ce57408d4c
1:55524222 PCSK9 C>T	1	55524222	55524222	C	T	PCSK9	c.1405C>T	NM_174936.4	NP_777596.2:p.(Arg469Trp)	NC_000001.10:g.55524222C>T	VUS	1 lab	ce594a473c
16:1020887 LMF1 C>T	16	1020887	1020887	C	T	LMF1	c.94G>A	NM_022773.4	NP_073610.2:p.(Ala32Thr)	NC_000016.9:g.1020887C>T	VUS	1 lab	ce59afe934
10:73591663 PSAP G>A	10	73591663	73591663	G	A	PSAP	c.189C>T	NM_001042465.3	NP_001035930.1:p.(Cys63=)	NC_000010.10:g.73591663G>A	(Likely) benign	1 lab	ce9c011bc6
8:22059395 BMP1 C>T	8	22059395	22059395	C	T	BMP1	c.2187C>T	NM_006129.5	NP_006120.1:p.(Cys729=)	NC_000008.10:g.22059395C>T	(Likely) benign	1 lab	ce5d3a695c
19:56538370 NLRP5 T>C	19	56538370	56538370	T	C	NLRP5	c.771T>C	NM_153447.4	NP_703148.4:p.(Ala257=)	NC_000019.9:g.56538370T>C	(Likely) benign	1 lab	ce5e298832
1:236900432 ACTN2 C>T	1	236900432	236900432	C	T	ACTN2	c.170C>T	NM_001278344.2	NP_001265273.1:p.(Ala57Val)	NC_000001.10:g.236900432C>T	VUS	1 lab	ce6418b668
11:47359132 MYBPC3 T>C	11	47359132	47359132	T	C	MYBPC3	c.2414-2A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359132T>C	(Likely) pathogenic	1 lab	ce6af8dd65
12:50497891 GPD1 A>G	12	50497891	50497891	A	G	GPD1	c.41+17A>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50497891A>G	VUS	1 lab	ce6c7ba266
19:55670702 DNAAF3 C>G	19	55670702	55670702	C	G	DNAAF3	c.1192G>C	NM_001256716.2	NP_001243645.1:p.(Ala398Pro)	NC_000019.9:g.55670702C>G	VUS	1 lab	ce6dfc4257
1:237632425 RYR2 C>T	1	237632425	237632425	C	T	RYR2	c.1646C>T	NM_001035.3	NP_001026.2:p.(Ala549Val)	NC_000001.10:g.237632425C>T	(Likely) pathogenic	1 lab	ce6fc7e3a0
1:12059123 MFN2 T>C	1	12059123	12059123	T	C	MFN2	c.787T>C	NM_014874.4	NP_055689.1:p.(Ser263Pro)	NC_000001.10:g.12059123T>C	(Likely) pathogenic	1 lab	ce70a19c22
10:88441435 LDB3 C>T	10	88441435	88441435	C	T	LDB3	c.564C>T	NM_001171610.2	NP_001165081.1:p.(Gly188=)	NC_000010.10:g.88441435C>T	(Likely) benign	1 lab	ce717eb22a
6:32010908 TNXB C>T	6	32010908	32010908	C	T	TNXB	c.11788+44G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010908C>T	(Likely) benign	1 lab	ce71dc8fd7
2:215645670 BARD1 A>C	2	215645670	215645670	A	C	BARD1	c.928T>G	NM_000465.4	NP_000456.2:p.(Ser310Ala)	NC_000002.11:g.215645670A>C	VUS	1 lab	ce728476b9
15:58855859 LIPC G>A	15	58855859	58855859	G	A	LIPC	c.1325G>A	NM_000236.3	NP_000227.2:p.(Gly442Glu)	NC_000015.9:g.58855859G>A	VUS	1 lab	cf7685c1b1
3:121202433 POLQ T>TA	3	121202433	121202450	T	TA	POLQ	c.5774-5dup	NM_199420.4	NP_955452.3:p.?	NC_000003.11:g.121202450dup	(Likely) benign	1 lab	ce78a9ad2e
3:2106957 MISSING Ref too long to show for this DEL>G	3	2106957	2425102	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.2106959_2425102del	(Likely) pathogenic	1 lab	ce867072a8
12:2719826 CACNA1C C>T	12	2719826	2719826	C	T	CACNA1C	c.3738C>T	NM_199460.4	NP_955630.3:p.(Phe1246=)	NC_000012.11:g.2719826C>T	(Likely) benign	1 lab	ce867791b1
20:25297701 ABHD12 G>A	20	25297701	25297701	G	A	ABHD12	c.556C>T	NM_001042472.3	NP_001035937.1:p.(Arg186Cys)	NC_000020.10:g.25297701G>A	VUS	1 lab	ce89014884
9:113169630 SVEP1 T>C	9	113169630	113169630	T	C	SVEP1	c.8250A>G	NM_153366.4	NP_699197.3:p.(Ala2750=)	NC_000009.11:g.113169630T>C	(Likely) benign	1 lab	ce8c2c3ac9
18:34576843 KIAA1328 Ref too long to show for this DEL>T	18	34576843	34662565	Ref too long to show for this DEL	T	KIAA1328	c.576+37446_1232+15057del	NM_020776.3	NP_065827.1:p.?	NC_000018.9:g.34576844_34662565del	VUS	1 lab	ce8edf9ab5
1:12040479 MFN2 T>C	1	12040479	12040479	T	C	MFN2				NC_000001.10:g.12040479T>C	(Likely) benign	1 lab	ce9196c7fd
2:219674496 CYP27A1 C>G	2	219674496	219674496	C	G	CYP27A1	c.446+6C>G	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219674496C>G	(Likely) pathogenic	1 lab	ce92b97f67
16:23634324 PALB2 G>A	16	23634324	23634324	G	A	PALB2	c.2962C>T	NM_024675.4	NP_078951.2:p.(Gln988Ter)	NC_000016.9:g.23634324G>A	(Likely) pathogenic	1 lab	ce96529ce5
9:107573319 ABCA1 G>A	9	107573319	107573319	G	A	ABCA1	c.4051-114C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107573319G>A	(Likely) benign	1 lab	ce9932994b
8:62555778 ASPH T>A	8	62555778	62555778	T	A	ASPH	c.757+167A>T	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62555778T>A	(Likely) benign	1 lab	cea5704cb1
4:2545454 FAM193A Ref too long to show for this DEL>G	4	2545454	2655030	Ref too long to show for this DEL	G	FAM193A	c.255+6558_1312-4500del	NM_001366318.2	NP_001353247.1:p.?	NC_000004.11:g.2545455_2655030del	VUS	1 lab	ceabe7a03b
2:106002866 FHL2 G>A	2	106002866	106002866	G	A	FHL2	c.108C>T	NM_001450.4	NP_001441.4:p.(Phe36=)	NC_000002.11:g.106002866G>A	(Likely) benign	1 lab	ceae1f07d1
21:47836090 PCNT C>G	21	47836090	47836090	C	G	PCNT	c.5904C>G	NM_001315529.2	NP_001302458.1:p.(Phe1968Leu)	NC_000021.8:g.47836090C>G	(Likely) benign	1 lab	ceb043703e
2:179432683 TTN A>G	2	179432683	179432683	A	G	TTN	c.78176T>C	NM_001267550.2	NP_001254479.2:p.(Ile26059Thr)	NC_000002.11:g.179432683A>G	VUS	1 lab	ceb1776da5
13:35883658 NBEA CT>C	13	35883658	35883662	CT	C	NBEA	c.5839-3del	NM_015678.5	NP_056493.3:p.?	NC_000013.10:g.35883662del	(Likely) benign	1 lab	ceb2e6482f
X:151093082 MAGEA4 G>A	X	151093082	151093082	G	A	MAGEA4	c.946G>A	NM_002362.4	NP_002353.3:p.(Gly316Arg)	NC_000023.10:g.151093082G>A	(Likely) benign	1 lab	ceb40e3424
21:39755440 ERG G>A	21	39755440	39755440	G	A	ERG	c.1346C>T	NM_001243428.1	NP_001230357.1:p.(Ser449Phe)	NC_000021.8:g.39755440G>A	VUS	1 lab	ceb9d05116
10:88681435 BMPR1A G>A	10	88681435	88681435	G	A	BMPR1A	c.1325G>A	NM_004329.3	NP_004320.2:p.(Arg442His)	NC_000010.10:g.88681435G>A	VUS	1 lab	cec0cc88d2
1:25880261 LDLRAP1 CA>C	1	25880261	25880280	CA	C	LDLRAP1	c.89-133del	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25880280del	(Likely) benign	1 lab	cec2241f23
19:10941991 DNM2 A>T	19	10941991	10941991	A	T	DNM2	c.*268A>T	NM_001005360.3	NP_001005360.1:p.?	NC_000019.9:g.10941991A>T	(Likely) benign	1 lab	cec3d110b4
1:94476808 ABCA4 T>C	1	94476808	94476808	T	C	ABCA4	c.5584+10A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94476808T>C	(Likely) benign	1 lab	cecaeac672
12:118199278 KSR2 G>C	12	118199278	118199278	G	C	KSR2	c.524C>G	NM_173598.6	NP_775869.4:p.(Thr175Arg)	NC_000012.11:g.118199278G>C	(Likely) benign	1 lab	cecc17d75b
11:63398677 ATL3 T>C	11	63398677	63398677	T	C	ATL3	c.1320A>G	NM_001290048.2	NP_001276977.1:p.(Ser440=)	NC_000011.9:g.63398677T>C	(Likely) benign	1 lab	ced067748a
8:144294860 MISSING G>C	8	144294860	144294860	G	C	MISSING				NC_000008.10:g.144294860G>C	(Likely) benign	1 lab	d414303f08
16:921174 LMF1 G>A	16	921174	921174	G	A	LMF1	c.666C>T	NM_001352018.2	NP_001338947.1:p.(Pro222=)	NC_000016.9:g.921174G>A	(Likely) benign	1 lab	ced430f88c
4:15995680 PROM1 T>A	4	15995680	15995680	T	A	PROM1	c.1697A>T	NM_006017.3	NP_006008.1:p.(Asn566Ile)	NC_000004.11:g.15995680T>A	VUS	1 lab	cedbb7f80c
16:88782226 PIEZO1 G>A	16	88782226	88782226	G	A	PIEZO1	c.7353C>T	NM_001142864.4	NP_001136336.2:p.(Ile2451=)	NC_000016.9:g.88782226G>A	(Likely) benign	1 lab	cee03a869d
10:35314130 CUL2 T>TA	10	35314130	35314146	T	TA	CUL2	c.1657-5dup	NM_001198779.1	NP_001185708.1:p.?	NC_000010.10:g.35314146dup	(Likely) benign	1 lab	cee29fc7d7
3:38591817 SCN5A C>T	3	38591817	38591817	C	T	SCN5A	c.6046G>A	NM_001099404.2	NP_001092874.1:p.(Val2016Met)	NC_000003.11:g.38591817C>T	(Likely) pathogenic	1 lab	ceead0d507
5:133948372 SAR1B G>GAATCTT	5	133948372	133948379	G	GAATCTT	SAR1B	c.244+3_244+8dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948374_133948379dup	(Likely) benign	1 lab	cef539f1bc
2:15651490 NBAS T>A	2	15651490	15651490	T	A	NBAS	c.747-16A>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15651490T>A	(Likely) benign	1 lab	cef710309d
8:87267770 MISSING C>Alt too long to show for this DUP	8	87267770	87354462	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.87267771_87354462dup	VUS	1 lab	cef91668b8
18:77470451 CTDP1 G>A	18	77470451	77470451	G	A	CTDP1	c.863+15G>A	NM_004715.5	NP_004706.3:p.?	NC_000018.9:g.77470451G>A	(Likely) benign	1 lab	cef943adcd
12:48378381 COL2A1 C>A	12	48378381	48378381	C	A	COL2A1	c.1835G>T	NM_001844.5	NP_001835.3:p.(Gly612Val)	NC_000012.11:g.48378381C>A	(Likely) pathogenic	1 lab	cef98ca575
18:25593815 CDH2 T>A	18	25593815	25593815	T	A	CDH2	c.231A>T	NM_001792.5	NP_001783.2:p.(Ala77=)	NC_000018.9:g.25593815T>A	(Likely) benign	1 lab	cefa9fd274
16:28913639 ATP2A1 G>GC	16	28913639	28913647	G	GC	ATP2A1	c.2464dup	NM_004320.6	NP_004311.1:p.(Arg822ProfsTer39)	NC_000016.9:g.28913647dup	(Likely) pathogenic	1 lab	cefaf00eae
8:144297125 GPIHBP1 C>T	8	144297125	144297125	C	T	GPIHBP1	c.296-9C>T	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297125C>T	(Likely) benign	1 lab	cf04f027ed
2:220497687 SLC4A3 G>A	2	220497687	220497687	G	A	SLC4A3	c.1314G>A	NM_001326559.2	NP_001313488.2:p.(Pro438=)	NC_000002.11:g.220497687G>A	(Likely) benign	1 lab	cf05480bd9
14:76259361 TTLL5 C>T	14	76259361	76259361	C	T	TTLL5	c.3089C>T	NM_015072.5	NP_055887.3:p.(Thr1030Ile)	NC_000014.8:g.76259361C>T	VUS	1 lab	cf12ccdf71
11:134288463 MISSING Ref too long to show for this DEL>A	11	134288463	134945165	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.134288464_134945165del	VUS	1 lab	cf19df7a42
19:13010516 GCDH G>A	19	13010516	13010516	G	A	GCDH	c.1246G>A	NM_013976.5	NP_039663.1:p.(Val416Ile)	NC_000019.9:g.13010516G>A	(Likely) benign	1 lab	cf1b65122a
2:189862730 COL3A1 C>T	2	189862730	189862730	C	T	COL3A1	c.1923+251C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189862730C>T	(Likely) benign	1 lab	cf1be18043
14:21792810 RPGRIP1 C>T	14	21792810	21792810	C	T	RPGRIP1	c.1796C>T	NM_020366.4	NP_065099.3:p.(Pro599Leu)	NC_000014.8:g.21792810C>T	(Likely) benign	1 lab	cf1d126a1f
3:38621215 SCN5A C>T	3	38621215	38621215	C	T	SCN5A	c.3229-229G>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38621215C>T	(Likely) benign	1 lab	cf2145e453
16:1004958 LMF1 C>CACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCA	16	1004958	1004959	C	CACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCA	LMF1	c.-361-293_-361-292insTGCACAGACCCCGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTCGCTTAGATGTGTGTGT	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004958_1004959insACACACACATCTAAGCGAACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGGGGTCTGTGCA	(Likely) benign	1 lab	cf23950a0a
8:70279596 MISSING G>Alt too long to show for this DUP	8	70279596	71050425	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.70279598_71050425dup	(Likely) pathogenic	1 lab	cf239abbb7
9:79896855 VPS13A A>G	9	79896855	79896855	A	G	VPS13A	c.2964+13A>G	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79896855A>G	(Likely) benign	1 lab	cf2586ac19
7:94047566 COL1A2 G>T	7	94047566	94047566	G	T	COL1A2	c.1972-245G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94047566G>T	(Likely) benign	1 lab	cf25f63c35
2:197791286 PGAP1 A>G	2	197791286	197791286	A	G	PGAP1	c.55T>C	NM_024989.4	NP_079265.2:p.(Phe19Leu)	NC_000002.11:g.197791286A>G	VUS	1 lab	cf26106b84
6:75898064 COL12A1 C>T	6	75898064	75898064	C	T	COL12A1	c.997+14G>A	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75898064C>T	(Likely) benign	1 lab	cf274e996a
14:23865916 MYH6 A>G	14	23865916	23865916	A	G	MYH6	c.2279T>C	NM_002471.4	NP_002462.2:p.(Phe760Ser)	NC_000014.8:g.23865916A>G	VUS	1 lab	cf28b76a6a
11:48185155 PTPRJ T>C	11	48185155	48185155	T	C	PTPRJ	c.3704T>C	NM_002843.4	NP_002834.3:p.(Ile1235Thr)	NC_000011.9:g.48185155T>C	(Likely) benign	1 lab	cf2c8836f0
11:76908662 MYO7A T>C	11	76908662	76908662	T	C	MYO7A	c.4441+19T>C	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76908662T>C	(Likely) benign	1 lab	cf315e3665
1:218607502 TGFB2 G>T	1	218607502	218607502	G	T	TGFB2	c.673G>T	NM_001135599.4	NP_001129071.1:p.(Glu225Ter)	NC_000001.10:g.218607502G>T	(Likely) pathogenic	1 lab	cf37456bfa
14:23792215 PABPN1 G>A	14	23792215	23792215	G	A	PABPN1	c.474G>A	NM_004643.4	NP_004634.1:p.(Pro158=)	NC_000014.8:g.23792215G>A	(Likely) benign	1 lab	cf3939e89b
11:47365528 MYBPC3 C>T	11	47365528	47365528	C	T	MYBPC3	c.1091-353G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365528C>T	(Likely) benign	1 lab	cf3b93004b
3:63973935 ATXN7 GATTCCT>G	3	63973935	63973941	GATTCCT	G	ATXN7	c.1297_1302del	NM_000333.4	NP_000324.1:p.(Ile433_Pro434del)	NC_000003.11:g.63973936_63973941del	(Likely) benign	1 lab	cf3f77e79c
6:7910931 TXNDC5 CCAG>C	6	7910931	7910950	CCAG	C	TXNDC5	c.76_78del	NM_030810.5	NP_110437.2:p.(Leu26del)	NC_000006.11:g.7910948_7910950del	(Likely) benign	1 lab	cf4221f11e
1:25891361 LDLRAP1 G>A	1	25891361	25891361	G	A	LDLRAP1	c.748-303G>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25891361G>A	(Likely) benign	1 lab	cf43c5f7f3
2:189871824 COL3A1 T>A	2	189871824	189871824	T	A	COL3A1	c.3255+108T>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189871824T>A	(Likely) benign	1 lab	cf47a3144d
2:44099191 ABCG8 C>A	2	44099191	44099191	C	A	ABCG8	c.1041C>A	NM_022437.3	NP_071882.1:p.(Ala347=)	NC_000002.11:g.44099191C>A	(Likely) benign	1 lab	cf5441abca
10:55719538 PCDH15 C>G	10	55719538	55719538	C	G	PCDH15	c.3091G>C	NM_001142771.2	NP_001136243.1:p.(Val1031Leu)	NC_000010.10:g.55719538C>G	VUS	1 lab	cf5ae54b56
9:79875082 VPS13A A>G	9	79875082	79875082	A	G	VPS13A	c.2369A>G	NM_033305.3	NP_150648.2:p.(Glu790Gly)	NC_000009.11:g.79875082A>G	(Likely) benign	1 lab	cf5d418c67
2:189849952 COL3A1 TCAAGGCCC>T	2	189849952	189849965	TCAAGGCCC	T	COL3A1	c.318_325del	NM_000090.4	NP_000081.2:p.(Pro107ArgfsTer13)	NC_000002.11:g.189849958_189849965del	(Likely) pathogenic	1 lab	cf5e2c4cc5
17:48267644 COL1A1 G>A	17	48267644	48267644	G	A	COL1A1	c.2451+44C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267644G>A	(Likely) benign	1 lab	cf5e878556
1:247535533 MISSING Ref too long to show for this DEL>T	1	247535533	247617036	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.247535534_247617036del	VUS	1 lab	cf6543e454
1:25870259 LDLRAP1 G>A	1	25870259	25870259	G	A	LDLRAP1	c.70G>A	NM_015627.3	NP_056442.2:p.(Gly24Ser)	NC_000001.10:g.25870259G>A	VUS	1 lab	cf6845d9c3
13:95157167 DCT C>T	13	95157167	95157167	C	T	DCT	c.104G>A	NM_001322186.2	NP_001309115.1:p.(Arg35Lys)	NC_000013.10:g.95157167C>T	(Likely) benign	1 lab	cf6ea2748b
2:39224377 SOS1 T>C	2	39224377	39224377	T	C	SOS1	c.2964+17A>G	NM_005633.4	NP_005624.2:p.?	NC_000002.11:g.39224377T>C	(Likely) benign	1 lab	cf6ee72ce1
18:29126478 DSG2 T>G	18	29126478	29126478	T	G	DSG2	c.3129T>G	NM_001943.5	NP_001934.2:p.(Asn1043Lys)	NC_000018.9:g.29126478T>G	VUS	1 lab	cf6f6e31d5
12:49440118 KMT2D CTGGCACAGGGCCCACAGTG>C	12	49440118	49440139	CTGGCACAGGGCCCACAGTG	C	KMT2D	c.4489_4507del	NM_003482.4	NP_003473.3:p.(His1497AlafsTer3)	NC_000012.11:g.49440121_49440139del	(Likely) pathogenic	1 lab	cf71a67c09
12:125298944 SCARB1 G>A	12	125298944	125298944	G	A	SCARB1	c.434C>T	NM_001367981.1	NP_001354910.1:p.(Ala145Val)	NC_000012.11:g.125298944G>A	VUS	1 lab	cf73a80453
2:179398989 TTN C>G	2	179398989	179398989	C	G	TTN	c.94649G>C	NM_133378.4	NP_596869.4:p.(Arg31550Pro)	NC_000002.11:g.179398989C>G	VUS	1 lab	cf74724d7e
16:67973973 LCAT C>T	16	67973973	67973973	C	T	LCAT	c.1157G>A	NM_000229.2	NP_000220.1:p.(Arg386His)	NC_000016.9:g.67973973C>T	VUS	1 lab	cf80265000
8:134030129 TG G>A	8	134030129	134030129	G	A	TG	c.6669G>A	NM_003235.5	NP_003226.4:p.(Lys2223=)	NC_000008.10:g.134030129G>A	(Likely) benign	1 lab	cf82406b70
16:88505284 ZNF469 C>A	16	88505284	88505284	C	A	ZNF469	c.11406C>A	NM_001367624.2	NP_001354553.1:p.(His3802Gln)	NC_000016.9:g.88505284C>A	(Likely) benign	1 lab	cf8317473f
1:74716391 TNNI3K G>A	1	74716391	74716391	G	A	TNNI3K	c.271G>A	NM_015978.3	NP_057062.1:p.(Gly91Arg)	NC_000001.10:g.74716391G>A	VUS	1 lab	cf85df4805
4:83350763 HNRNPDL G>A	4	83350763	83350763	G	A	HNRNPDL	c.81C>T	NM_031372.4	NP_112740.1:p.(Leu27=)	NC_000004.11:g.83350763G>A	(Likely) benign	1 lab	cf8666e1f5
17:41245872 BRCA1 C>G	17	41245872	41245872	C	G	BRCA1	c.1676G>C	NM_007294.4	NP_009225.1:p.(Gly559Ala)	NC_000017.10:g.41245872C>G	(Likely) benign	1 lab	cf867aec12
X:23269451 MISSING T>Alt too long to show for this DUP	X	23269451	23549951	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.23269453_23549951dup	VUS	1 lab	cf88148630
2:44079563 ABCG8 G>A	2	44079563	44079563	G	A	ABCG8	c.632G>A	NM_022437.3	NP_071882.1:p.(Arg211Gln)	NC_000002.11:g.44079563G>A	(Likely) pathogenic	1 lab	cf885d19f9
2:179438143 TTN A>G	2	179438143	179438143	A	G	TTN	c.72716T>C	NM_001267550.2	NP_001254479.2:p.(Met24239Thr)	NC_000002.11:g.179438143A>G	VUS	1 lab	cf8c6a6e92
14:23242894 SLC7A7 AC>A	14	23242894	23242895	AC	A	SLC7A7	c.1460del	NM_001126106.4	NP_001119578.1:p.(Cys487LeufsTer32)	NC_000014.8:g.23242895del	(Likely) pathogenic	1 lab	cf90fe04e0
2:241680681 KIF1A C>A	2	241680681	241680681	C	A	KIF1A	c.3824+5G>T	NM_001379631.1	NP_001366560.1:p.?	NC_000002.11:g.241680681C>A	VUS	1 lab	cf99b169bd
11:76834837 CAPN5 G>A	11	76834837	76834837	G	A	CAPN5	c.1844G>A	NM_004055.5	NP_004046.2:p.(Arg615Gln)	NC_000011.9:g.76834837G>A	(Likely) benign	1 lab	cf9dfa2d25
12:2558298 CACNA1C G>A	12	2558298	2558298	G	A	CACNA1C	c.617+17G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2558298G>A	(Likely) benign	1 lab	cf9f110cd8
X:103185924 MISSING A>Alt too long to show for this DUP	X	103185924	103303531	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.103185926_103303531dup	VUS	1 lab	cfa6268c91
7:70189310 MISSING T>Alt too long to show for this DUP	7	70189310	70533221	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.70189312_70533221dup	VUS	1 lab	cfa6715f7e
2:202592514 ALS2 C>T	2	202592514	202592514	C	T	ALS2	c.2842-16G>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202592514C>T	(Likely) benign	1 lab	cfa9558d92
19:38987073 RYR1 A>T	19	38987073	38987073	A	T	RYR1	c.6688A>T	NM_000540.3	NP_000531.2:p.(Thr2230Ser)	NC_000019.9:g.38987073A>T	VUS	1 lab	cfb257a3c9
X:70443694 GJB1 A>G	X	70443694	70443694	A	G	GJB1	c.137A>G	NM_000166.6	NP_000157.1:p.(Asp46Gly)	NC_000023.10:g.70443694A>G	(Likely) pathogenic	1 lab	cfb3cf73a3
2:44053090 ABCG5 G>A	2	44053090	44053090	G	A	ABCG5	c.774+431C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053090G>A	(Likely) benign	1 lab	cfb55a55ae
13:110436400 IRS2 G>A	13	110436400	110436400	G	A	IRS2	c.2001C>T	NM_003749.3	NP_003740.2:p.(Ser667=)	NC_000013.10:g.110436400G>A	(Likely) benign	1 lab	cfb6a7ce55
3:78737897 ROBO1 G>T	3	78737897	78737897	G	T	ROBO1	c.963C>A	NM_133631.4	NP_598334.2:p.(Pro321=)	NC_000003.11:g.78737897G>T	(Likely) benign	1 lab	cfbc9bc007
18:34205566 FHOD3 C>T	18	34205566	34205566	C	T	FHOD3	c.1050C>T	NM_001281740.3	NP_001268669.1:p.(Gly350=)	NC_000018.9:g.34205566C>T	(Likely) benign	1 lab	cfbe9a1c13
15:67462858 SMAD3 T>C	15	67462858	67462858	T	C	SMAD3	c.608-34T>C	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67462858T>C	(Likely) benign	1 lab	cfc03f2e6f
11:88911567 TYR A>C	11	88911567	88911567	A	C	TYR	c.446A>C	NM_000372.5	NP_000363.1:p.(Tyr149Ser)	NC_000011.9:g.88911567A>C	(Likely) pathogenic	1 lab	cfc2470063
6:56418141 DST A>T	6	56418141	56418141	A	T	DST	c.9092T>A	NM_001144769.5	NP_001138241.1:p.(Phe3031Tyr)	NC_000006.11:g.56418141A>T	VUS	1 lab	cfc4e5e3c3
1:94528775 ABCA4 C>T	1	94528775	94528775	C	T	ABCA4	c.1653G>A	NM_000350.3	NP_000341.2:p.(Val551=)	NC_000001.10:g.94528775C>T	(Likely) benign	1 lab	cfc5df8ed0
8:134034343 TG C>G	8	134034343	134034343	C	G	TG	c.6984C>G	NM_003235.5	NP_003226.4:p.(Leu2328=)	NC_000008.10:g.134034343C>G	(Likely) benign	1 lab	cfc7993939
14:77493761 IRF2BPL T>TTGC	14	77493761	77493793	T	TTGC	IRF2BPL	c.372_374dup	NM_024496.4	NP_078772.1:p.(Gln127dup)	NC_000014.8:g.77493791_77493793dup	(Likely) benign	1 lab	cfc8d7ba9f
14:62002671 MISSING A>Alt too long to show for this DUP	14	62002671	62032586	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.62002672_62032586dup	VUS	1 lab	cfccbfda5e
10:3817938 KLF6 Ref too long to show for this DEL>C	10	3817938	3829443	Ref too long to show for this DEL	C	KLF6				NC_000010.10:g.3817940_3829443del	VUS	1 lab	cfd292edf9
19:47112207 CALM3 C>T	19	47112207	47112207	C	T	CALM3	c.390C>T	NM_005184.4	NP_005175.2:p.(Asp130=)	NC_000019.9:g.47112207C>T	(Likely) benign	1 lab	cfddb56ea8
2:238436140 MLPH G>A	2	238436140	238436140	G	A	MLPH	c.1001G>A	NM_024101.7	NP_077006.1:p.(Arg334Gln)	NC_000002.11:g.238436140G>A	VUS	1 lab	cfe1b8f5d2
6:7562975 DSP G>A	6	7562975	7562975	G	A	DSP	c.688G>A	NM_004415.4	NP_004406.2:p.(Asp230Asn)	NC_000006.11:g.7562975G>A	(Likely) benign	1 lab	cfe36912e2
2:179615844 TTN C>G	2	179615844	179615844	C	G	TTN	c.11283G>C	NM_133379.5	NP_596870.2:p.(Lys3761Asn)	NC_000002.11:g.179615844C>G	(Likely) benign	1 lab	cfe389b493
16:2093728 NTHL1 C>T	16	2093728	2093728	C	T	NTHL1	c.526-1G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2093728C>T	(Likely) pathogenic	1 lab	cfe3d3bc82
8:43052822 HGSNAT T>C	8	43052822	43052822	T	C	HGSNAT	c.1550T>C	NM_152419.3	NP_689632.2:p.(Ile517Thr)	NC_000008.10:g.43052822T>C	VUS	1 lab	cfe430c1af
2:179422911 TTN C>G	2	179422911	179422911	C	G	TTN	c.87170G>C	NM_001267550.2	NP_001254479.2:p.(Arg29057Thr)	NC_000002.11:g.179422911C>G	VUS	1 lab	cff026308e
15:31217428 FAN1 G>C	15	31217428	31217428	G	C	FAN1	c.2271G>C	NM_014967.5	NP_055782.3:p.(Pro757=)	NC_000015.9:g.31217428G>C	(Likely) benign	1 lab	cff70cd489
2:128051309 ERCC3 C>A	2	128051309	128051309	C	A	ERCC3	c.29-15G>T	NM_000122.2	NP_000113.1:p.?	NC_000002.11:g.128051309C>A	(Likely) benign	1 lab	cffba92bc0
18:7011323 LAMA1 C>T	18	7011323	7011323	C	T	LAMA1	c.3663G>A	NM_005559.4	NP_005550.2:p.(Leu1221=)	NC_000018.9:g.7011323C>T	(Likely) benign	1 lab	d0023c1660
1:55521805 PCSK9 C>T	1	55521805	55521805	C	T	PCSK9	c.939C>T	NM_174936.4	NP_777596.2:p.(Thr313=)	NC_000001.10:g.55521805C>T	(Likely) benign	1 lab	d0066bfb88
16:1004807 LMF1 T>G	16	1004807	1004807	T	G	LMF1	c.-361-141A>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004807T>G	(Likely) benign	1 lab	d00904c27a
1:63063592 DOCK7 GAACTC>G	1	63063592	63063604	GAACTC	G	DOCK7	c.1683-11302_1683-11298del	NM_001271999.2	NP_001258928.1:p.?	NC_000001.10:g.63063600_63063604del	(Likely) pathogenic	1 lab	d00bde65b0
19:45412520 APOE G>A	19	45412520	45412520	G	A	APOE	c.*13G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45412520G>A	(Likely) benign	1 lab	d00f00cc82
3:6873197 MISSING G>Alt too long to show for this DUP	3	6873197	6928877	G	Alt too long to show for this DUP	MISSING				NC_000003.11:g.6873199_6928877dup	VUS	1 lab	d013cb7dee
19:11223944 LDLR G>A	19	11223944	11223944	G	A	LDLR	c.1187-10G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223944G>A	(Likely) pathogenic	1 lab	d014905e2a
1:156834589 NTRK1 C>T	1	156834589	156834589	C	T	NTRK1	c.357C>T	NM_002529.4	NP_002520.2:p.(Arg119=)	NC_000001.10:g.156834589C>T	VUS	1 lab	d014d7e347
18:77475368 CTDP1 C>T	18	77475368	77475368	C	T	CTDP1	c.1908C>T	NM_004715.5	NP_004706.3:p.(Asp636=)	NC_000018.9:g.77475368C>T	(Likely) benign	1 lab	d015a4f9cc
9:137700938 COL5A1 G>A	9	137700938	137700938	G	A	COL5A1	c.3367-91G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137700938G>A	(Likely) benign	1 lab	d02aebee29
11:117265104 CEP164 C>T	11	117265104	117265104	C	T	CEP164	c.2655C>T	NM_014956.5	NP_055771.4:p.(Thr885=)	NC_000011.9:g.117265104C>T	(Likely) benign	1 lab	d037ee6e79
9:79867288 VPS13A T>C	9	79867288	79867288	T	C	VPS13A	c.2288+20T>C	NM_001018037.2	NP_001018047.1:p.?	NC_000009.11:g.79867288T>C	(Likely) benign	1 lab	d039c6d6dd
22:50903229 SBF1 C>T	22	50903229	50903229	C	T	SBF1	c.1431+19G>A	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50903229C>T	(Likely) benign	1 lab	d03af35c50
8:100589851 VPS13B A>G	8	100589851	100589851	A	G	VPS13B	c.5285A>G	NM_017890.5	NP_060360.3:p.(Lys1762Arg)	NC_000008.10:g.100589851A>G	VUS	1 lab	d045d48174
1:23233461 EPHB2 C>G	1	23233461	23233461	C	G	EPHB2	c.2136+11C>G	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23233461C>G	(Likely) benign	1 lab	d04cb6d6d5
4:16019985 PROM1 C>A	4	16019985	16019985	C	A	PROM1	c.936G>T	NM_001145847.2	NP_001139319.1:p.(Leu312Phe)	NC_000004.11:g.16019985C>A	(Likely) benign	1 lab	d05108f85c
20:35011290 DLGAP4 Ref too long to show for this DEL>A	20	35011290	35074422	Ref too long to show for this DEL	A	DLGAP4	c.-73+15616_1408-678del	NM_001365621.2	NP_001352550.1:p.?	NC_000020.10:g.35011294_35074422del	VUS	1 lab	d0513ba8dc
3:14189426 XPC A>G	3	14189426	14189426	A	G	XPC	c.2496T>C	NM_004628.5	NP_004619.3:p.(Ile832=)	NC_000003.11:g.14189426A>G	(Likely) benign	1 lab	d0545143d8
17:33428323 RAD51D G>A	17	33428323	33428323	G	A	RAD51D	c.800C>T	NM_002878.4	NP_002869.3:p.(Ser267Phe)	NC_000017.10:g.33428323G>A	VUS	1 lab	d054f148bc
11:116662801 APOA5 G>A	11	116662801	116662801	G	A	APOA5	c.-32-193C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662801G>A	(Likely) benign	1 lab	d058c8ee52
13:53007886 VPS36 G>GA	13	53007886	53007896	G	GA	VPS36	c.268-4dup	NM_001282169.2	NP_001269098.1:p.?	NC_000013.10:g.53007896dup	(Likely) benign	1 lab	d05da6c488
2:44053511 ABCG5 A>C	2	44053511	44053511	A	C	ABCG5	c.774+10T>G	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44053511A>C	(Likely) benign	1 lab	d064d75dc9
16:77398081 ADAMTS18 T>C	16	77398081	77398081	T	C	ADAMTS18	c.972+4A>G	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77398081T>C	(Likely) benign	1 lab	d06cb67491
15:58834793 LIPC G>A	15	58834793	58834793	G	A	LIPC	c.517G>A	NM_000236.3	NP_000227.2:p.(Val173Met)	NC_000015.9:g.58834793G>A	VUS	1 lab	d06cf200a8
2:121742326 GLI2 G>A	2	121742326	121742326	G	A	GLI2	c.1956+7G>A	NM_001371271.1	NP_001358200.1:p.?	NC_000002.11:g.121742326G>A	(Likely) benign	1 lab	d06f4dc246
5:130649675 CDC42SE2 Ref too long to show for this DEL>C	5	130649675	130659953	Ref too long to show for this DEL	C	CDC42SE2	c.-454-1993_-286+8116del	NM_001375635.1	NP_001362564.1:p.?	NC_000005.9:g.130649676_130659953del	VUS	1 lab	d0719e4a6f
18:29098216 DSG2 T>C	18	29098216	29098216	T	C	DSG2	c.60T>C	NM_001943.5	NP_001934.2:p.(Val20=)	NC_000018.9:g.29098216T>C	(Likely) benign	1 lab	d071d00617
12:53069014 KRT1 T>C	12	53069014	53069014	T	C	KRT1	c.1898A>G	NM_006121.4	NP_006112.3:p.(Lys633Arg)	NC_000012.11:g.53069014T>C	(Likely) benign	1 lab	d07a4eed0f
10:95360789 RBP4 GC>G	10	95360789	95360792	GC	G	RBP4	c.-5del	NM_001323517.1	NP_001310446.1:p.?	NC_000010.10:g.95360792del	(Likely) benign	1 lab	d07e69749b
10:64572996 EGR2 G>A	10	64572996	64572996	G	A	EGR2	c.1402C>T	NM_000399.5	NP_000390.2:p.(Pro468Ser)	NC_000010.10:g.64572996G>A	VUS	1 lab	d07ecb41dc
15:30381898 GOLGA8J G>C	15	30381898	30381898	G	C	GOLGA8J	c.875-5G>C	NM_001282472.2	NP_001269401.1:p.?	NC_000015.9:g.30381898G>C	(Likely) benign	1 lab	d084af188e
10:88441256 LDB3 A>T	10	88441256	88441256	A	T	LDB3	c.385A>T	NM_001080115.2	NP_001073584.1:p.(Ser129Cys)	NC_000010.10:g.88441256A>T	VUS	1 lab	d0862fb8b0
10:94369233 KIF11 C>T	10	94369233	94369233	C	T	KIF11	c.665C>T	NM_004523.4	NP_004514.2:p.(Thr222Ile)	NC_000010.10:g.94369233C>T	VUS	1 lab	d088185e8c
16:72141530 DHX38 C>T	16	72141530	72141530	C	T	DHX38	c.2810-14C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72141530C>T	VUS	1 lab	d089df42e3
10:12139687 DHTKD1 C>T	10	12139687	12139687	C	T	DHTKD1	c.1363C>T	NM_018706.7	NP_061176.4:p.(Arg455Ter)	NC_000010.10:g.12139687C>T	(Likely) pathogenic	1 lab	d08e9c4448
11:129781998 PRDM10 C>T	11	129781998	129781998	C	T	PRDM10	c.2976G>A	NM_020228.3	NP_064613.2:p.(Ser992=)	NC_000011.9:g.129781998C>T	(Likely) benign	1 lab	d102418883
12:122257330 SETD1B ACCT>A	12	122257330	122257335	ACCT	A	SETD1B	c.3442_3444del	NM_001353345.2	NP_001340274.1:p.(Ser1148del)	NC_000012.11:g.122257333_122257335del	(Likely) benign	1 lab	d09521e557
20:42744426 JPH2 T>C	20	42744426	42744426	T	C	JPH2	c.1889A>G	NM_020433.5	NP_065166.2:p.(Lys630Arg)	NC_000020.10:g.42744426T>C	VUS	1 lab	d095298ac5
1:156846318 NTRK1 A>G	1	156846318	156846318	A	G	NTRK1	c.1759A>G	NM_002529.3	NP_002520.2:p.(Met587Val)	NC_000001.10:g.156846318A>G	(Likely) pathogenic	1 lab	d0954230a2
11:9248818 MISSING T>Alt too long to show for this DUP	11	9248818	9330409	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.9248820_9330409dup	VUS	1 lab	d09a7bbc62
11:75282990 SERPINH1 C>T	11	75282990	75282990	C	T	SERPINH1	c.1119C>T	NM_001235.5	NP_001226.2:p.(Arg373=)	NC_000011.9:g.75282990C>T	(Likely) benign	1 lab	d09c47380b
17:68171308 KCNJ2 G>A	17	68171308	68171308	G	A	KCNJ2	c.128G>A	NM_000891.3	NP_000882.1:p.(Cys43Tyr)	NC_000017.10:g.68171308G>A	VUS	1 lab	d09d9718ff
16:23646828 PALB2 CTTTT>C	16	23646828	23646832	CTTTT	C	PALB2	c.1035_1038del	NM_024675.4	NP_078951.2:p.(Lys346AsnfsTer9)	NC_000016.9:g.23646829_23646832del	(Likely) pathogenic	1 lab	d09e9e1699
19:11238779 LDLR C>A	19	11238779	11238779	C	A	LDLR	c.2389+18C>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238779C>A	(Likely) benign	1 lab	d0a467a2cb
9:107588157 ABCA1 A>G	9	107588157	107588157	A	G	ABCA1	c.2349T>C	NM_005502.4	NP_005493.2:p.(Ser783=)	NC_000009.11:g.107588157A>G	(Likely) benign	1 lab	d0addcd1f7
16:67973788 LCAT C>T	16	67973788	67973788	C	T	LCAT	c.*19G>A	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67973788C>T	(Likely) benign	1 lab	d0ae57fdee
9:107548634 ABCA1 T>C	9	107548634	107548634	T	C	ABCA1	c.6346A>G	NM_005502.4	NP_005493.2:p.(Ile2116Val)	NC_000009.11:g.107548634T>C	VUS	1 lab	d0b31b7c42
X:111236345 MISSING G>Alt too long to show for this DUP	X	111236345	111736802	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.111236349_111736802dup	VUS	1 lab	d0b6efdf9e
2:11307109 MISSING Ref too long to show for this DEL>G	2	11307109	11446373	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.11307110_11446373del	VUS	1 lab	d0b709503d
6:73100388 RIMS1 G>A	6	73100388	73100388	G	A	RIMS1	c.4455G>A	NM_014989.6	NP_055804.2:p.(Pro1485=)	NC_000006.11:g.73100388G>A	(Likely) benign	1 lab	d0bac67113
2:179455963 TTN G>A	2	179455963	179455963	G	A	TTN	c.60489C>T	NM_001267550.2	NP_001254479.2:p.(Ala20163=)	NC_000002.11:g.179455963G>A	(Likely) benign	1 lab	d0be24f90f
16:2138102 TSC2 C>T	16	2138102	2138102	C	T	TSC2	c.5122C>T	NM_000548.5	NP_000539.2:p.(Leu1708=)	NC_000016.9:g.2138102C>T	(Likely) benign	1 lab	d0c1aa3b27
8:145809036 MISSING G>Alt too long to show for this DUP	8	145809036	146239365	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.145809038_146239365dup	VUS	1 lab	d0c34d9ab2
11:65632027 MUS81 C>T	11	65632027	65632027	C	T	MUS81	c.1119C>T	NM_025128.5	NP_079404.3:p.(Ser373=)	NC_000011.9:g.65632027C>T	(Likely) benign	1 lab	d0c53c3d01
11:116661789 APOA5 G>T	11	116661789	116661789	G	T	APOA5	c.162-6C>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116661789G>T	VUS	1 lab	d0c578bf3b
9:288825 DOCK8 Ref too long to show for this DEL>T	9	288825	341078	Ref too long to show for this DEL	T	DOCK8	c.333-683_1679+757del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.288827_341078del	VUS	1 lab	d0c75c9b58
6:32609220 HLA-DQA1 TGA>T	6	32609220	32609223	TGA	T	HLA-DQA1	c.218_219del	NM_002122.5	NP_002113.2:p.(Glu73ValfsTer8)	NC_000006.11:g.32609222_32609223del	(Likely) benign	1 lab	d0c87cfb80
3:63981799 ATXN7 G>A	3	63981799	63981799	G	A	ATXN7	c.2301G>A	NM_000333.4	NP_000324.1:p.(Ala767=)	NC_000003.11:g.63981799G>A	(Likely) benign	1 lab	d0d02a998d
11:65321232 LTBP3 G>A	11	65321232	65321232	G	A	LTBP3	c.804C>T	NM_001130144.3	NP_001123616.1:p.(Pro268=)	NC_000011.9:g.65321232G>A	(Likely) benign	1 lab	d0d10e25f0
12:863152 WNK1 G>A	12	863152	863152	G	A	WNK1	c.421G>A	NM_001184985.2	NP_001171914.1:p.(Ala141Thr)	NC_000012.11:g.863152G>A	(Likely) benign	1 lab	d0d93dd65f
7:94034006 COL1A2 G>A	7	94034006	94034006	G	A	COL1A2	c.326G>A	NM_000089.4	NP_000080.2:p.(Gly109Asp)	NC_000007.13:g.94034006G>A	(Likely) pathogenic	1 lab	d0d9ad78d3
19:13008590 GCDH C>T	19	13008590	13008590	C	T	GCDH	c.1156C>T	NM_000159.4	NP_000150.1:p.(Arg386Ter)	NC_000019.9:g.13008590C>T	(Likely) pathogenic	1 lab	d0dae626b1
11:6413102 SMPD1 C>T	11	6413102	6413102	C	T	SMPD1	c.807C>T	NM_001318087.2	NP_001305016.1:p.(Ala269=)	NC_000011.9:g.6413102C>T	(Likely) benign	1 lab	d0e1038b40
14:102481575 DYNC1H1 G>A	14	102481575	102481575	G	A	DYNC1H1	c.7148G>A	NM_001376.5	NP_001367.2:p.(Arg2383His)	NC_000014.8:g.102481575G>A	VUS	1 lab	d0e2e22f37
6:15651525 DTNBP1 C>G	6	15651525	15651525	C	G	DTNBP1	c.161+19G>C	NM_183040.2	NP_898861.1:p.?	NC_000006.11:g.15651525C>G	(Likely) benign	1 lab	d0e6d71923
15:43687371 TUBGCP4 T>C	15	43687371	43687371	T	C	TUBGCP4	c.1065+16T>C	NM_001286414.3	NP_001273343.1:p.?	NC_000015.9:g.43687371T>C	(Likely) benign	1 lab	d0eb486963
2:179568913 TTN A>G	2	179568913	179568913	A	G	TTN	c.30184T>C	NM_001267550.2	NP_001254479.2:p.(Tyr10062His)	NC_000002.11:g.179568913A>G	VUS	1 lab	d0eb73c231
11:121415993 SORL1 T>A	11	121415993	121415993	T	A	SORL1	c.1906T>A	NM_003105.6	NP_003096.2:p.(Ser636Thr)	NC_000011.9:g.121415993T>A	(Likely) benign	1 lab	d0f4f0c984
2:204842428 MISSING Ref too long to show for this DEL>G	2	204842428	209976877	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.204842429_209976877del	(Likely) pathogenic	1 lab	d0f5584c5c
6:7559456 DSP C>T	6	7559456	7559456	C	T	DSP	c.423-3C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7559456C>T	VUS	1 lab	d0f808f90e
7:91707165 AKAP9 A>G	7	91707165	91707165	A	G	AKAP9	c.6921A>G	NM_005751.5	NP_005742.4:p.(Gln2307=)	NC_000007.13:g.91707165A>G	(Likely) benign	1 lab	d0fa5296a2
7:94052279 COL1A2 G>T	7	94052279	94052279	G	T	COL1A2	c.2414G>T	NM_000089.4	NP_000080.2:p.(Gly805Val)	NC_000007.13:g.94052279G>T	(Likely) pathogenic	1 lab	d0fc77df10
12:52159458 SCN8A C>T	12	52159458	52159458	C	T	SCN8A	c.2548C>T	NM_001330260.2	NP_001317189.1:p.(Arg850Ter)	NC_000012.11:g.52159458C>T	(Likely) pathogenic	1 lab	d0fc7c3ac0
14:88897520 SPATA7 A>G	14	88897520	88897520	A	G	SPATA7	c.1033A>G	NM_018418.5	NP_060888.2:p.(Met345Val)	NC_000014.8:g.88897520A>G	VUS	1 lab	d0fc7f1b8e
1:29481428 SRSF4 G>GA	1	29481428	29481438	G	GA	SRSF4	c.364-7dup	NM_005626.5	NP_005617.2:p.?	NC_000001.10:g.29481438dup	(Likely) benign	1 lab	d1017f5e93
14:101758165 MISSING Ref too long to show for this DEL>T	14	101758165	107287505	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.101758166_107287505del	(Likely) pathogenic	1 lab	d10951bca4
9:94842326 SPTLC1 A>C	9	94842326	94842326	A	C	SPTLC1	c.399T>G	NM_006415.4	NP_006406.1:p.(Cys133Trp)	NC_000009.11:g.94842326A>C	(Likely) pathogenic	1 lab	d10b1bfe7e
10:90983549 LIPA C>T	10	90983549	90983549	C	T	LIPA	c.714G>A	NM_000235.4	NP_000226.2:p.(Ala238=)	NC_000010.10:g.90983549C>T	(Likely) benign	1 lab	d10e0458b5
17:46805637 HOXB13 C>G	17	46805637	46805637	C	G	HOXB13	c.319G>C	NM_006361.6	NP_006352.2:p.(Ala107Pro)	NC_000017.10:g.46805637C>G	VUS	1 lab	d1106ee514
2:86509338 REEP1 C>T	2	86509338	86509338	C	T	REEP1	c.60G>A	NM_022912.3	NP_075063.1:p.(Ala20=)	NC_000002.11:g.86509338C>T	(Likely) benign	1 lab	d11750dc05
2:44040398 ABCG5 C>A	2	44040398	44040398	C	A	ABCG5	c.1813G>T	NM_022436.3	NP_071881.1:p.(Gly605Ter)	NC_000002.11:g.44040398C>A	VUS	1 lab	d1180cccbe
8:19816905 LPL G>T	8	19816905	19816905	G	T	LPL	c.1139+14G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816905G>T	(Likely) benign	1 lab	d11d3e2612
20:47990089 KCNB1 G>A	20	47990089	47990089	G	A	KCNB1	c.2008C>T	NM_004975.4	NP_004966.1:p.(Arg670Ter)	NC_000020.10:g.47990089G>A	VUS	1 lab	d11f35a3e4
6:75797308 COL12A1 C>T	6	75797308	75797308	C	T	COL12A1	c.9166G>A	NM_004370.6	NP_004361.3:p.(Gly3056Arg)	NC_000006.11:g.75797308C>T	VUS	1 lab	d121aec5c6
1:237948199 RYR2 A>G	1	237948199	237948199	A	G	RYR2	c.13187A>G	NM_001035.3	NP_001026.2:p.(His4396Arg)	NC_000001.10:g.237948199A>G	VUS	1 lab	d1240213ac
2:21252894 APOB A>G	2	21252894	21252894	A	G	APOB	c.1353-7T>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21252894A>G	(Likely) benign	1 lab	d1290721e0
4:16228051 TAPT1 C>T	4	16228051	16228051	C	T	TAPT1	c.30G>A	NM_153365.3	NP_699196.2:p.(Pro10=)	NC_000004.11:g.16228051C>T	(Likely) benign	1 lab	d12e9e91e8
2:44102291 ABCG8 G>A	2	44102291	44102291	G	A	ABCG8	c.1495G>A	NM_022437.3	NP_071882.1:p.(Gly499Arg)	NC_000002.11:g.44102291G>A	VUS	1 lab	d13111256d
14:90437607 TDP1 C>G	14	90437607	90437607	C	G	TDP1	c.748C>G	NM_018319.4	NP_060789.2:p.(Leu250Val)	NC_000014.8:g.90437607C>G	VUS	1 lab	d132b2a1be
2:21232704 APOB C>T	2	21232704	21232704	C	T	APOB	c.7036G>A	NM_000384.3	NP_000375.3:p.(Glu2346Lys)	NC_000002.11:g.21232704C>T	VUS	1 lab	d1352c09f1
8:126064960 MISSING C>Alt too long to show for this DUP	8	126064960	126358585	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.126064961_126358585dup	VUS	1 lab	d139fa069d
19:11231146 LDLR C>A	19	11231146	11231146	C	A	LDLR	c.2088C>A	NM_000527.5	NP_000518.1:p.(Cys696Ter)	NC_000019.9:g.11231146C>A	(Likely) pathogenic	1 lab	d13a00183b
2:179449465 TTN G>A	2	179449465	179449465	G	A	TTN	c.64903C>T	NM_001267550.2	NP_001254479.2:p.(Arg21635Cys)	NC_000002.11:g.179449465G>A	VUS	1 lab	d13b956b2d
2:44104846 ABCG8 G>T	2	44104846	44104846	G	T	ABCG8	c.1884+19G>T	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44104846G>T	(Likely) benign	1 lab	d1413aa9d4
19:50905010 POLD1 G>A	19	50905010	50905010	G	A	POLD1	c.317-25G>A	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50905010G>A	(Likely) benign	1 lab	d14e87f1b1
8:24813907 NEFL G>A	8	24813907	24813907	G	A	NEFL	c.123C>T	NM_006158.5	NP_006149.2:p.(Ser41=)	NC_000008.10:g.24813907G>A	(Likely) benign	1 lab	d152956710
10:61834018 ANK3 G>A	10	61834018	61834018	G	A	ANK3	c.6621C>T	NM_020987.5	NP_066267.2:p.(Pro2207=)	NC_000010.10:g.61834018G>A	(Likely) benign	1 lab	d15576a1e3
9:119425185 ASTN2 G>Alt too long to show for this DUP	9	119425185	119475072	G	Alt too long to show for this DUP	ASTN2	c.2806+12979_2807-11114dup	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119425187_119475072dup	VUS	1 lab	d155a10ed2
15:48720012 FBN1 T>C	15	48720012	48720012	T	C	FBN1	c.6998-42A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720012T>C	(Likely) pathogenic	1 lab	d15796d37b
2:179629453 TTN G>A	2	179629453	179629453	G	A	TTN	c.9789C>T	NM_001267550.2	NP_001254479.2:p.(Ser3263=)	NC_000002.11:g.179629453G>A	(Likely) benign	1 lab	d15a8c27d2
14:80009617 NRXN3 G>Alt too long to show for this DUP	14	80009617	80065028	G	Alt too long to show for this DUP	NRXN3	c.3444+75874_3445-65093dup	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.80009619_80065028dup	VUS	1 lab	d15c49ee55
16:31195692 FUS T>A	16	31195692	31195692	T	A	FUS	c.498T>A	NM_004960.4	NP_004951.1:p.(Gly166=)	NC_000016.9:g.31195692T>A	(Likely) benign	1 lab	d15de55382
6:1725257 GMDS Ref too long to show for this DEL>T	6	1725257	1860929	Ref too long to show for this DEL	T	GMDS	c.771+69410_987+1392del	NM_001500.4	NP_001491.1:p.?	NC_000006.11:g.1725260_1860929del	VUS	1 lab	d164a515ba
7:128496794 FLNC C>T	7	128496794	128496794	C	T	FLNC	c.7385-5C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496794C>T	(Likely) benign	1 lab	d165a1cd3a
11:47358289 MYBPC3 C>G	11	47358289	47358289	C	G	MYBPC3	c.2602+653G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358289C>G	(Likely) benign	1 lab	d165ef1a9f
2:71839784 DYSF AG>A	2	71839784	71839786	AG	A	DYSF	c.4234del	NM_001130981.2	NP_001124453.1:p.(Glu1412SerfsTer53)	NC_000002.11:g.71839786del	(Likely) pathogenic	1 lab	d169ebed30
6:157469830 ARID1B G>T	6	157469830	157469830	G	T	ARID1B	c.335G>T	NM_001363725.2	NP_001350654.1:p.(Gly112Val)	NC_000006.11:g.157469830G>T	VUS	1 lab	d16b027ea8
6:71745525 MISSING C>Alt too long to show for this DUP	6	71745525	72007905	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.71745530_72007905dup	VUS	1 lab	d17ad4b7b2
7:35284560 TBX20 C>T	7	35284560	35284560	C	T	TBX20	c.654+1G>A	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35284560C>T	(Likely) pathogenic	1 lab	d181f6e3d6
22:31354653 MORC2 G>A	22	31354653	31354653	G	A	MORC2	c.96C>T	NM_001303256.3	NP_001290185.1:p.(Ala32=)	NC_000022.10:g.31354653G>A	(Likely) benign	1 lab	d187fc68a4
2:15694176 NBAS C>G	2	15694176	15694176	C	G	NBAS	c.287+9G>C	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15694176C>G	(Likely) benign	1 lab	d18bb9ffd6
12:122255040 SETD1B C>T	12	122255040	122255040	C	T	SETD1B	c.2817C>T	NM_001353345.2	NP_001340274.1:p.(Gly939=)	NC_000012.11:g.122255040C>T	(Likely) benign	1 lab	d18d58ef28
21:47551986 COL6A2 G>A	21	47551986	47551986	G	A	COL6A2	c.2580G>A	NM_001849.4	NP_001840.3:p.(Ala860=)	NC_000021.8:g.47551986G>A	(Likely) benign	1 lab	d18f9d5d04
11:47371039 MYBPC3 A>C	11	47371039	47371039	A	C	MYBPC3	c.654+286T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371039A>C	(Likely) benign	1 lab	d19c876714
16:89371839 ANKRD11 G>A	16	89371839	89371839	G	A	ANKRD11	c.88-87C>T	NM_001256182.2	NP_001243111.1:p.?	NC_000016.9:g.89371839G>A	(Likely) benign	1 lab	d1a0715001
9:135203634 SETX A>G	9	135203634	135203634	A	G	SETX	c.3351T>C	NM_015046.7	NP_055861.3:p.(Thr1117=)	NC_000009.11:g.135203634A>G	(Likely) benign	1 lab	d1a39682f1
7:142827951 MISSING Ref too long to show for this DEL>G	7	142827951	142888396	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.142827954_142888396del	(Likely) benign	1 lab	d1a521c0c9
7:15377440 AGMO Ref too long to show for this DEL>T	7	15377440	15428741	Ref too long to show for this DEL	T	AGMO	c.822+1555_1263+27698del	NM_001004320.2	NP_001004320.1:p.?	NC_000007.13:g.15377441_15428741del	VUS	1 lab	d1ae16a8ec
17:57724834 CLTC C>A	17	57724834	57724834	C	A	CLTC	c.338C>A	NM_001288653.2	NP_001275582.1:p.(Thr113Asn)	NC_000017.10:g.57724834C>A	VUS	1 lab	d1af70aba2
7:140439755 BRAF A>AG	7	140439755	140439756	A	AG	BRAF	c.1993-10dup	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140439756dup	(Likely) benign	1 lab	d1af9e37d2
5:178554954 ADAMTS2 C>A	5	178554954	178554954	C	A	ADAMTS2	c.2617+6G>T	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178554954C>A	(Likely) benign	1 lab	d1b9450f4e
2:179480434 TTN G>C	2	179480434	179480434	G	C	TTN	c.48394C>G	NM_001267550.2	NP_001254479.2:p.(Arg16132Gly)	NC_000002.11:g.179480434G>C	VUS	1 lab	d1bb2b2372
2:44041699 ABCG5 T>G	2	44041699	44041699	T	G	ABCG5	c.1679A>C	NM_022436.3	NP_071881.1:p.(Lys560Thr)	NC_000002.11:g.44041699T>G	(Likely) pathogenic	1 lab	d1c0439c80
6:112480088 LAMA4 GA>G	6	112480088	112480095	GA	G	LAMA4	c.1648-7del	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112480095del	(Likely) benign	1 lab	d1c1b97421
Y:9308267 MISSING T>Alt too long to show for this DUP	Y	9308267	9310274	T	Alt too long to show for this DUP	MISSING				NC_000024.9:g.9308268_9310274dup	(Likely) pathogenic	1 lab	d1c1d7cad0
8:42863190 HOOK3 G>C	8	42863190	42863190	G	C	HOOK3	c.1738+118G>C	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42863190G>C	(Likely) benign	1 lab	d1c676c55b
10:47087519 NPY4R C>T	10	47087519	47087519	C	T	NPY4R	c.736C>T	NM_001278794.2	NP_001265723.1:p.(Arg246Cys)	NC_000010.10:g.47087519C>T	(Likely) benign	1 lab	d1c89aacb6
3:38655308 SCN5A A>C	3	38655308	38655308	A	C	SCN5A	c.629T>G	NM_198056.3	NP_932173.1:p.(Val210Gly)	NC_000003.11:g.38655308A>C	VUS	1 lab	d1cfd225b5
16:89986119 MC1R C>G	16	89986119	89986119	C	G	MC1R	c.453C>G	NM_002386.4	NP_002377.4:p.(Arg151=)	NC_000016.9:g.89986119C>G	VUS	1 lab	d1d32cd08b
12:122257316 SETD1B C>T	12	122257316	122257316	C	T	SETD1B	c.3425C>T	NM_001353345.2	NP_001340274.1:p.(Thr1142Ile)	NC_000012.11:g.122257316C>T	VUS	1 lab	d1d61df1eb
1:249203477 PGBD2 Ref too long to show for this DEL>T	1	249203477	249206397	Ref too long to show for this DEL	T	PGBD2	c.-48+2937_-47-1618del	NM_170725.3	NP_733843.1:p.?	NC_000001.10:g.249203478_249206397del	VUS	1 lab	d1e03830fc
3:38649567 SCN5A A>G	3	38649567	38649567	A	G	SCN5A	c.998+75T>C	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38649567A>G	(Likely) benign	1 lab	d1e0d03f4e
2:179606654 TTN T>C	2	179606654	179606654	T	C	TTN	c.11312-6A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179606654T>C	(Likely) benign	1 lab	d1e69f926f
19:11240309 LDLR A>G	19	11240309	11240309	A	G	LDLR	c.2510A>G	NM_000527.5	NP_000518.1:p.(His837Arg)	NC_000019.9:g.11240309A>G	VUS	1 lab	d1e88dddc8
19:7532411 ARHGEF18 C>G	19	7532411	7532411	C	G	ARHGEF18	c.3321C>G	NM_001367823.1	NP_001354752.1:p.(Ala1107=)	NC_000019.9:g.7532411C>G	(Likely) benign	1 lab	d1ea96e900
7:124503653 POT1 AGAGCTGGT>A	7	124503653	124503663	AGAGCTGGT	A	POT1	c.289_296del	NM_015450.3	NP_056265.2:p.(Thr97TrpfsTer8)	NC_000007.13:g.124503656_124503663del	(Likely) pathogenic	1 lab	d1f62ed251
1:201334425 TNNT2 C>T	1	201334425	201334425	C	T	TNNT2	c.275G>A	NM_001276347.2	NP_001263276.1:p.(Arg92Gln)	NC_000001.10:g.201334425C>T	(Likely) pathogenic	1 lab	d1f9766124
5:149294595 PDE6A C>CT	5	149294595	149294617	C	CT	PDE6A	c.934-26dup	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149294617dup	(Likely) benign	1 lab	d1fa87b47c
X:13780455 OFD1 C>T	X	13780455	13780455	C	T	OFD1	c.2388-8C>T	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13780455C>T	(Likely) benign	1 lab	d1fe3051b2
3:119367390 POPDC2 T>C	3	119367390	119367390	T	C	POPDC2	c.726A>G	NM_001369919.2	NP_001356848.1:p.(Ser242=)	NC_000003.11:g.119367390T>C	(Likely) benign	1 lab	d1ff3fdcec
7:81579832 CACNA2D1 T>TAA	7	81579832	81579842	T	TAA	CACNA2D1	c.3160-10_3160-9dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81579841_81579842dup	(Likely) benign	1 lab	d20224db99
X:32591741 DMD G>A	X	32591741	32591741	G	A	DMD	c.1349C>T	NM_004010.3	NP_004001.1:p.(Ala450Val)	NC_000023.10:g.32591741G>A	(Likely) benign	1 lab	d208830db2
4:661780 PDE6B GTGGCAGCCAAGAAAGGTC>G	4	661780	661802	GTGGCAGCCAAGAAAGGTC	G	PDE6B	c.2493_2503+7del	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.661785_661802del	(Likely) pathogenic	1 lab	d20cf69cb1
3:38592589 SCN5A G>A	3	38592589	38592589	G	A	SCN5A	c.5274C>T	NM_198056.3	NP_932173.1:p.(Ile1758=)	NC_000003.11:g.38592589G>A	(Likely) benign	1 lab	d20dfe6935
X:49079274 CACNA1F G>A	X	49079274	49079274	G	A	CACNA1F	c.2142C>T	NM_005183.4	NP_005174.2:p.(Asn714=)	NC_000023.10:g.49079274G>A	(Likely) benign	1 lab	d218cede4f
15:45400303 DUOX2 C>T	15	45400303	45400303	C	T	DUOX2	c.1516G>A	NM_014080.5	NP_054799.4:p.(Asp506Asn)	NC_000015.9:g.45400303C>T	VUS	1 lab	d218d824b5
2:121746430 GLI2 C>T	2	121746430	121746430	C	T	GLI2	c.2940C>T	NM_005270.5	NP_005261.2:p.(Ser980=)	NC_000002.11:g.121746430C>T	(Likely) benign	1 lab	d21d41e813
11:102819790 MMP13 C>T	11	102819790	102819790	C	T	MMP13	c.1015G>A	NM_002427.4	NP_002418.1:p.(Glu339Lys)	NC_000011.9:g.102819790C>T	VUS	1 lab	d2201471db
1:33283528 S100PBP G>A	1	33283528	33283528	G	A	S100PBP	c.-120+238G>A	NM_022753.4	NP_073590.2:p.?	NC_000001.10:g.33283528G>A	(Likely) benign	1 lab	d2202703d9
9:114691931 MISSING Ref too long to show for this DEL>A	9	114691931	114719770	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.114691932_114719770del	VUS	1 lab	d2210f6e91
2:29294599 PCARE G>A	2	29294599	29294599	G	A	PCARE	c.2529C>T	NM_001029883.3	NP_001025054.1:p.(Phe843=)	NC_000002.11:g.29294599G>A	(Likely) benign	1 lab	d2271c7091
2:58390097 FANCL A>G	2	58390097	58390097	A	G	FANCL	c.837-15T>C	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58390097A>G	(Likely) benign	1 lab	d22954c8eb
11:18318550 HPS5 C>CA	11	18318550	18318563	C	CA	HPS5	c.1324-20dup	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18318563dup	(Likely) benign	1 lab	d2bb28e382
2:21225192 APOB G>C	2	21225192	21225192	G	C	APOB	c.13102C>G	NM_000384.3	NP_000375.3:p.(Gln4368Glu)	NC_000002.11:g.21225192G>C	(Likely) benign	1 lab	d2296c5368
5:147784235 FBXO38 A>T	5	147784235	147784235	A	T	FBXO38	c.593-13A>T	NM_205836.3	NP_995308.1:p.?	NC_000005.9:g.147784235A>T	(Likely) benign	1 lab	d22d482746
22:31346345 MORC2 A>G	22	31346345	31346345	A	G	MORC2	c.40+18T>C	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31346345A>G	(Likely) benign	1 lab	d23487d737
9:107546648 ABCA1 G>C	9	107546648	107546648	G	C	ABCA1	c.6734C>G	NM_005502.4	NP_005493.2:p.(Ala2245Gly)	NC_000009.11:g.107546648G>C	VUS	1 lab	d2355b2c6a
5:178634547 ADAMTS2 G>A	5	178634547	178634547	G	A	ADAMTS2	c.858C>T	NM_014244.5	NP_055059.2:p.(His286=)	NC_000005.9:g.178634547G>A	(Likely) benign	1 lab	d237087d23
2:179424842 TTN C>G	2	179424842	179424842	C	G	TTN	c.86017G>C	NM_001267550.2	NP_001254479.2:p.(Val28673Leu)	NC_000002.11:g.179424842C>G	VUS	1 lab	d23c316727
1:103496813 COL11A1 A>C	1	103496813	103496813	A	C	COL11A1	c.652-13T>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496813A>C	(Likely) benign	1 lab	d23caa5766
2:179613455 TTN C>T	2	179613455	179613455	C	T	TTN	c.13672G>A	NM_133379.5	NP_596870.2:p.(Asp4558Asn)	NC_000002.11:g.179613455C>T	(Likely) benign	1 lab	d23d246ec6
13:114322212 GRK1 T>C	13	114322212	114322212	T	C	GRK1	c.511T>C	NM_002929.3	NP_002920.1:p.(Phe171Leu)	NC_000013.10:g.114322212T>C	VUS	1 lab	d23e770648
6:161010118 LPA A>G	6	161010118	161010118	A	G	LPA	c.3947+467T>C	NM_005577.4	NP_005568.2:p.?	NC_000006.11:g.161010118A>G	(Likely) pathogenic	1 lab	d245752d29
1:25890248 LDLRAP1 G>A	1	25890248	25890248	G	A	LDLRAP1	c.713G>A	NM_015627.3	NP_056442.2:p.(Arg238Gln)	NC_000001.10:g.25890248G>A	(Likely) benign	1 lab	d255d8364f
5:133533531 PPP2CA G>A	5	133533531	133533531	G	A	PPP2CA	c.862C>T	NM_002715.4	NP_002706.1:p.(Gln288Ter)	NC_000005.9:g.133533531G>A	(Likely) pathogenic	1 lab	d259b66696
16:71557641 MISSING G>Alt too long to show for this DUP	16	71557641	72058347	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.71557643_72058347dup	(Likely) pathogenic	1 lab	d338f647d4
2:21232137 APOB A>G	2	21232137	21232137	A	G	APOB	c.7603T>C	NM_000384.3	NP_000375.3:p.(Tyr2535His)	NC_000002.11:g.21232137A>G	VUS	1 lab	d261db0f2f
3:12531434 TSEN2 TAAC>T	3	12531434	12531442	TAAC	T	TSEN2	c.141_143del	NM_025265.4	NP_079541.1:p.(Asn48del)	NC_000003.11:g.12531440_12531442del	(Likely) pathogenic	1 lab	d263c1133f
10:53893327 PRKG1 G>A	10	53893327	53893327	G	A	PRKG1	c.891-273G>A	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53893327G>A	(Likely) benign	1 lab	d26841f889
2:179442014 TTN AC>A	2	179442014	179442017	AC	A	TTN	c.69047del	NM_001267550.2	NP_001254479.2:p.(Gly23016ValfsTer18)	NC_000002.11:g.179442017del	(Likely) pathogenic	1 lab	d26b35b423
3:9781264 BRPF1 CAG>C	3	9781264	9781266	CAG	C	BRPF1	c.1182_1183del	NM_001003694.2	NP_001003694.1:p.(Ala396LeufsTer69)	NC_000003.11:g.9781265_9781266del	(Likely) pathogenic	1 lab	d2769846eb
2:85533670 TCF7L1 C>T	2	85533670	85533670	C	T	TCF7L1	c.1245C>T	NM_031283.3	NP_112573.1:p.(Ala415=)	NC_000002.11:g.85533670C>T	(Likely) benign	1 lab	d2796fd17f
7:82584095 PCLO T>C	7	82584095	82584095	T	C	PCLO	c.6174A>G	NM_033026.6	NP_149015.2:p.(Leu2058=)	NC_000007.13:g.82584095T>C	(Likely) benign	1 lab	d27aea92a1
7:128494102 FLNC C>T	7	128494102	128494102	C	T	FLNC	c.6559C>T	NM_001458.5	NP_001449.3:p.(Arg2187Cys)	NC_000007.13:g.128494102C>T	VUS	1 lab	d28130262d
3:37774304 ITGA9 C>T	3	37774304	37774304	C	T	ITGA9	c.2154+15C>T	NM_002207.3	NP_002198.2:p.?	NC_000003.11:g.37774304C>T	(Likely) benign	1 lab	d2866d8b89
3:40503520 RPL14 A>ACTGCTGCTG	3	40503520	40503552	A	ACTGCTGCTG	RPL14	c.469_477dup	NM_001034996.3	NP_001030168.1:p.(Ala157_Ala159dup)	NC_000003.11:g.40503544_40503552dup	(Likely) benign	1 lab	d28a4883cc
1:10364057 KIF1B A>G	1	10364057	10364057	A	G	KIF1B	c.2814A>G	NM_183416.4	NP_904325.2:p.(Thr938=)	NC_000001.10:g.10364057A>G	(Likely) benign	1 lab	d28af6e6ed
20:745835 SLC52A3 C>T	20	745835	745835	C	T	SLC52A3	c.567+17G>A	NM_001370086.1	NP_001357015.1:p.?	NC_000020.10:g.745835C>T	(Likely) benign	1 lab	d28d591f9d
2:15629014 NBAS G>A	2	15629014	15629014	G	A	NBAS	c.1083+4C>T	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15629014G>A	(Likely) benign	1 lab	d29045f463
13:114325856 GRK1 G>A	13	114325856	114325856	G	A	GRK1	c.870G>A	NM_002929.3	NP_002920.1:p.(Pro290=)	NC_000013.10:g.114325856G>A	(Likely) benign	1 lab	d291800ad5
13:32945088 BRCA2 T>C	13	32945088	32945088	T	C	BRCA2	c.8488-5T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32945088T>C	(Likely) benign	1 lab	d299dddc4c
1:74902167 TNNI3K T>G	1	74902167	74902167	T	G	TNNI3K	c.1835T>G	NM_015978.3	NP_057062.1:p.(Phe612Cys)	NC_000001.10:g.74902167T>G	VUS	1 lab	d29c5224c9
16:21847857 NPIPB4 G>A	16	21847857	21847857	G	A	NPIPB4	c.1851C>T	NM_001310148.2	NP_001297077.1:p.(Asn617=)	NC_000016.9:g.21847857G>A	(Likely) benign	1 lab	d29d7cf64d
4:44386611 MISSING Ref too long to show for this DEL>G	4	44386611	44561133	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.44386614_44561133del	VUS	1 lab	d2a24dc876
2:44040517 ABCG5 C>G	2	44040517	44040517	C	G	ABCG5	c.1763-69G>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040517C>G	(Likely) benign	1 lab	d2a2580390
2:21227208 APOB C>T	2	21227208	21227208	C	T	APOB	c.12020G>A	NM_000384.3	NP_000375.3:p.(Gly4007Asp)	NC_000002.11:g.21227208C>T	VUS	1 lab	d2a46832d8
6:123851715 TRDN GAAAAAAT>G	6	123851715	123851723	GAAAAAAT	G	TRDN	c.425-12_425-6del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123851717_123851723del	(Likely) benign	1 lab	d2aaed7ab6
10:55582712 PCDH15 G>A	10	55582712	55582712	G	A	PCDH15	c.4795C>T	NM_001142763.2	NP_001136235.1:p.(Pro1599Ser)	NC_000010.10:g.55582712G>A	(Likely) benign	1 lab	d2ae829ab2
13:32911376 BRCA2 C>T	13	32911376	32911376	C	T	BRCA2	c.2884C>T	NM_000059.4	NP_000050.3:p.(His962Tyr)	NC_000013.10:g.32911376C>T	(Likely) benign	1 lab	d2b8eb798d
3:167422695 PDCD10 A>T	3	167422695	167422695	A	T	PDCD10	c.97-12T>A	NM_007217.4	NP_009148.2:p.?	NC_000003.11:g.167422695A>T	(Likely) benign	1 lab	d2bea55d51
15:67473809 SMAD3 T>TCC	15	67473809	67473813	T	TCC	SMAD3	c.871+21_871+22dup	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67473812_67473813dup	(Likely) benign	1 lab	d2c0db4485
20:746410 SLC52A3 G>A	20	746410	746410	G	A	SLC52A3	c.9C>T	NM_033409.4	NP_212134.3:p.(Phe3=)	NC_000020.10:g.746410G>A	(Likely) benign	1 lab	d2c5bf8863
7:128481232 FLNC A>G	7	128481232	128481232	A	G	FLNC	c.1822A>G	NM_001458.5	NP_001449.3:p.(Ile608Val)	NC_000007.13:g.128481232A>G	VUS	1 lab	d2ca4c152c
7:91715570 AKAP9 G>A	7	91715570	91715570	G	A	AKAP9	c.9053G>A	NM_005751.5	NP_005742.4:p.(Ser3018Asn)	NC_000007.13:g.91715570G>A	VUS	1 lab	d2cb6d59a3
2:21224422 APOB C>A	2	21224422	21224422	C	A	APOB	c.*180G>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21224422C>A	(Likely) benign	1 lab	d2cd4fb26b
3:52437734 BAP1 A>G	3	52437734	52437734	A	G	BAP1	c.1427T>C	NM_004656.4	NP_004647.1:p.(Val476Ala)	NC_000003.11:g.52437734A>G	(Likely) benign	1 lab	d2ce955512
2:170012780 LRP2 A>G	2	170012780	170012780	A	G	LRP2	c.12151+4T>C	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170012780A>G	(Likely) benign	1 lab	d2e12b8d87
1:74833626 TNNI3K G>A	1	74833626	74833626	G	A	TNNI3K	c.1299G>A	NM_015978.3	NP_057062.1:p.(Gly433=)	NC_000001.10:g.74833626G>A	(Likely) benign	1 lab	d2e5795df9
2:203165059 NOP58 G>A	2	203165059	203165059	G	A	NOP58	c.1371G>A	NM_015934.5	NP_057018.1:p.(Lys457=)	NC_000002.11:g.203165059G>A	(Likely) benign	1 lab	d2e96fb254
7:72726576 MISSING Ref too long to show for this DEL>A	7	72726576	74193404	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.72726579_74193404del	(Likely) pathogenic	1 lab	d2ed4153c9
4:100543994 MTTP G>A	4	100543994	100543994	G	A	MTTP	c.2674G>A	NM_000253.4	NP_000244.2:p.(Gly892Arg)	NC_000004.11:g.100543994G>A	VUS	1 lab	d2eed5a2df
4:100503137 MTTP G>A	4	100503137	100503137	G	A	MTTP	c.137G>A	NM_000253.4	NP_000244.2:p.(Arg46Gln)	NC_000004.11:g.100503137G>A	VUS	1 lab	d2f1c4217c
7:6523674 KDELR2 C>T	7	6523674	6523674	C	T	KDELR2	c.15G>A	NM_006854.4	NP_006845.1:p.(Arg5=)	NC_000007.13:g.6523674C>T	(Likely) benign	1 lab	d2f3821e3d
15:67477086 SMAD3 A>G	15	67477086	67477086	A	G	SMAD3	c.893A>G	NM_005902.4	NP_005893.1:p.(Tyr298Cys)	NC_000015.9:g.67477086A>G	(Likely) pathogenic	1 lab	d2f57e6435
6:32486332 HLA-DRB5 C>G	6	32486332	32486332	C	G	HLA-DRB5	c.763+1G>C	NM_002125.4	NP_002116.2:p.?	NC_000006.11:g.32486332C>G	(Likely) benign	1 lab	d2f9461c85
22:42439252 MISSING T>Alt too long to show for this DUP	22	42439252	42465834	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.42439253_42465834dup	VUS	1 lab	d2faec2ebf
7:138552778 KIAA1549 G>A	7	138552778	138552778	G	A	KIAA1549	c.4872C>T	NM_001164665.2	NP_001158137.1:p.(Ser1624=)	NC_000007.13:g.138552778G>A	(Likely) benign	1 lab	d2fb7702db
19:55320305 KIR2DL4 TGG>T	19	55320305	55320307	TGG	T	KIR2DL4	c.674_675del	NM_001080772.2	NP_001074241.1:p.(Trp225SerfsTer5)	NC_000019.9:g.55320306_55320307del	(Likely) benign	1 lab	d2ffc4f2f9
7:138603028 KIAA1549 G>A	7	138603028	138603028	G	A	KIAA1549	c.1344C>T	NM_001164665.2	NP_001158137.1:p.(Ala448=)	NC_000007.13:g.138603028G>A	(Likely) benign	1 lab	d2ffd954b2
9:101904970 TGFBR1 A>G	9	101904970	101904970	A	G	TGFBR1	c.958A>G	NM_004612.4	NP_004603.1:p.(Ile320Val)	NC_000009.11:g.101904970A>G	VUS	1 lab	d306d7b167
3:100992439 IMPG2 C>A	3	100992439	100992439	C	A	IMPG2	c.814G>T	NM_016247.4	NP_057331.2:p.(Glu272Ter)	NC_000003.11:g.100992439C>A	(Likely) pathogenic	1 lab	d30d1d7c4a
1:236912202 ACTN2 G>A	1	236912202	236912202	G	A	ACTN2	c.1516-222G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236912202G>A	(Likely) benign	1 lab	d312961a06
11:108178695 ATM A>G	11	108178695	108178695	A	G	ATM	c.5746A>G	NM_000051.4	NP_000042.3:p.(Met1916Val)	NC_000011.9:g.108178695A>G	VUS	1 lab	d313289472
8:1824915 ARHGEF10 C>T	8	1824915	1824915	C	T	ARHGEF10	c.918+15C>T	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1824915C>T	(Likely) benign	1 lab	d3135ecdca
8:67976622 CSPP1 C>T	8	67976622	67976622	C	T	CSPP1	c.-12C>T	NM_024790.6	NP_079066.5:p.?	NC_000008.10:g.67976622C>T	(Likely) benign	1 lab	d315edb90c
10:73050700 UNC5B G>A	10	73050700	73050700	G	A	UNC5B	c.1128G>A	NM_170744.5	NP_734465.2:p.(Leu376=)	NC_000010.10:g.73050700G>A	(Likely) benign	1 lab	d3229800da
1:2160475 SKI C>T	1	2160475	2160475	C	T	SKI	c.270C>T	NM_003036.4	NP_003027.1:p.(Phe90=)	NC_000001.10:g.2160475C>T	(Likely) benign	1 lab	d32ac0648b
7:128415610 OPN1SW C>T	7	128415610	128415610	C	T	OPN1SW	c.226G>A	NM_001385125.1	NP_001372054.1:p.(Gly76Arg)	NC_000007.13:g.128415610C>T	VUS	1 lab	d32f087d91
3:49695401 BSN C>T	3	49695401	49695401	C	T	BSN	c.8412C>T	NM_003458.4	NP_003449.2:p.(His2804=)	NC_000003.11:g.49695401C>T	(Likely) benign	1 lab	d3306c6e77
12:125279724 SCARB1 T>C	12	125279724	125279724	T	C	SCARB1	c.1202+17A>G	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125279724T>C	(Likely) benign	1 lab	d3320d1dec
2:44052032 ABCG5 G>C	2	44052032	44052032	G	C	ABCG5	c.900C>G	NM_022436.3	NP_071881.1:p.(Phe300Leu)	NC_000002.11:g.44052032G>C	VUS	1 lab	d332d29459
2:25523065 DNMT3A C>T	2	25523065	25523065	C	T	DNMT3A	c.120G>A	NM_022552.5	NP_072046.2:p.(Glu40=)	NC_000002.11:g.25523065C>T	(Likely) benign	1 lab	d33592217c
2:200298060 SATB2 C>T	2	200298060	200298060	C	T	SATB2	c.346+1G>A	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200298060C>T	(Likely) pathogenic	1 lab	d335b8fb6c
5:71490077 MAP1B C>T	5	71490077	71490077	C	T	MAP1B	c.895C>T	NM_005909.5	NP_005900.2:p.(Arg299Ter)	NC_000005.9:g.71490077C>T	(Likely) pathogenic	1 lab	d33a1c925f
11:118375646 KMT2A T>A	11	118375646	118375646	T	A	KMT2A	c.9039T>A	NM_001197104.2	NP_001184033.1:p.(Gly3013=)	NC_000011.9:g.118375646T>A	(Likely) benign	1 lab	d33e661aec
1:10421878 KIF1B A>G	1	10421878	10421878	A	G	KIF1B	c.4161A>G	NM_015074.3	NP_055889.2:p.(Pro1387=)	NC_000001.10:g.10421878A>G	(Likely) benign	1 lab	d33e8444ce
2:179473560 TTN G>T	2	179473560	179473560	G	T	TTN	c.52178C>A	NM_001267550.2	NP_001254479.2:p.(Pro17393His)	NC_000002.11:g.179473560G>T	VUS	1 lab	d3490f82a1
1:201338944 TNNT2 C>T	1	201338944	201338944	C	T	TNNT2	c.97G>A	NM_001276345.2	NP_001263274.1:p.(Glu33Lys)	NC_000001.10:g.201338944C>T	VUS	1 lab	d34b785bfc
2:73828407 ALMS1 C>T	2	73828407	73828407	C	T	ALMS1	c.11961C>T	NM_015120.4	NP_055935.4:p.(Ser3987=)	NC_000002.11:g.73828407C>T	(Likely) benign	1 lab	d34e1dc073
9:91947881 SECISBP2 A>G	9	91947881	91947881	A	G	SECISBP2	c.656A>G	NM_001282690.1	NP_001269619.1:p.(Asn219Ser)	NC_000009.11:g.91947881A>G	VUS	1 lab	d34e8fcc97
2:152502653 NEB GTTGA>G	2	152502653	152502659	GTTGA	G	NEB	c.7523_7526del	NM_001271208.2	NP_001258137.2:p.(Ile2508ThrfsTer14)	NC_000002.11:g.152502656_152502659del	(Likely) pathogenic	1 lab	d34f4c6662
5:172661983 NKX2-5 G>A	5	172661983	172661983	G	A	NKX2-5	c.104C>T	NM_001166175.2	NP_001159647.1:p.(Ala35Val)	NC_000005.9:g.172661983G>A	VUS	1 lab	d35639492b
15:57284690 TCF12 A>Alt too long to show for this DUP	15	57284690	57334445	A	Alt too long to show for this DUP	TCF12	c.149-71257_149-21503dup	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57284691_57334445dup	VUS	1 lab	d35c039ba2
2:44078784 ABCG8 G>A	2	44078784	44078784	G	A	ABCG8	c.384G>A	NM_022437.3	NP_071882.1:p.(Lys128=)	NC_000002.11:g.44078784G>A	(Likely) benign	1 lab	d35fe6ee2d
9:135203752 SETX G>A	9	135203752	135203752	G	A	SETX	c.3233C>T	NM_001351527.2	NP_001338456.1:p.(Ser1078Phe)	NC_000009.11:g.135203752G>A	VUS	1 lab	d36031fffa
15:85360781 ALPK3 G>A	15	85360781	85360781	G	A	ALPK3	c.98G>A	NM_020778.5	NP_065829.4:p.(Ser33Asn)	NC_000015.9:g.85360781G>A	VUS	1 lab	d366a6a015
16:29591078 MISSING T>Alt too long to show for this DUP	16	29591078	30191848	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29591079_30191848dup	(Likely) pathogenic	1 lab	d36f367e54
2:44099404 ABCG8 G>A	2	44099404	44099404	G	A	ABCG8	c.1170G>A	NM_022437.3	NP_071882.1:p.(Thr390=)	NC_000002.11:g.44099404G>A	(Likely) benign	1 lab	d37186cafe
7:151271989 PRKAG2 A>G	7	151271989	151271989	A	G	PRKAG2	c.993T>C	NM_016203.4	NP_057287.2:p.(Tyr331=)	NC_000007.13:g.151271989A>G	(Likely) benign	1 lab	d371a025f3
8:38940143 ADAM9 A>AT	8	38940143	38940156	A	AT	ADAM9	c.1882-4dup	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38940156dup	(Likely) benign	1 lab	d3754dc2cd
1:74716443 FPGT-TNNI3K C>T	1	74716443	74716443	C	T	FPGT-TNNI3K	c.626C>T	NM_001112808.3	NP_001106279.3:p.(Ala209Val)	NC_000001.10:g.74716443C>T	(Likely) benign	1 lab	d3765d605d
16:984083 LMF1 C>T	16	984083	984083	C	T	LMF1	c.23G>A	NM_001352018.2	NP_001338947.1:p.(Arg8His)	NC_000016.9:g.984083C>T	VUS	1 lab	d37a7dd6d1
17:42427131 GRN G>T	17	42427131	42427131	G	T	GRN	c.349+12G>T	NM_002087.4	NP_002078.1:p.?	NC_000017.10:g.42427131G>T	(Likely) benign	1 lab	d381823e4c
2:179577093 TTN T>C	2	179577093	179577093	T	C	TTN	c.27556A>G	NM_001267550.2	NP_001254479.2:p.(Ile9186Val)	NC_000002.11:g.179577093T>C	VUS	1 lab	d3873c2ee1
11:116706795 APOA1 GCGCGCGCGCGGT>G	11	116706795	116706812	GCGCGCGCGCGGT	G	APOA1	c.521_532del	NM_000039.3	NP_000030.1:p.(Asp174_Arg177del)	NC_000011.9:g.116706801_116706812del	(Likely) pathogenic	1 lab	d387dfb83a
11:62166250 MISSING G>Alt too long to show for this DUP	11	62166250	62195427	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.62166252_62195427dup	VUS	1 lab	d38f74b05c
17:1584205 PRPF8 G>T	17	1584205	1584205	G	T	PRPF8	c.992+18C>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1584205G>T	(Likely) benign	1 lab	d41b18f7cd
20:42815163 JPH2 C>T	20	42815163	42815163	C	T	JPH2	c.183G>A	NM_020433.5	NP_065166.2:p.(Glu61=)	NC_000020.10:g.42815163C>T	(Likely) benign	1 lab	d3a2adefef
12:21375306 SLCO1B1 GAAAAAAAAAAAAAA>G	12	21375306	21375332	GAAAAAAAAAAAAAA	G	SLCO1B1	c.1747+21_1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375319_21375332del	(Likely) benign	1 lab	d3b3b70bd4
3:170244598 SLC7A14 G>A	3	170244598	170244598	G	A	SLC7A14	c.128C>T	NM_020949.3	NP_066000.2:p.(Thr43Met)	NC_000003.11:g.170244598G>A	VUS	1 lab	d3bb42218c
22:40757536 ADSL C>T	22	40757536	40757536	C	T	ADSL	c.907C>T	NM_000026.4	NP_000017.1:p.(Arg303Cys)	NC_000022.10:g.40757536C>T	(Likely) pathogenic	1 lab	d3bda7b7d5
3:170198424 SLC7A14 G>A	3	170198424	170198424	G	A	SLC7A14	c.1647C>T	NM_020949.3	NP_066000.2:p.(Gly549=)	NC_000003.11:g.170198424G>A	(Likely) benign	1 lab	d3be8e16e7
7:94052839 COL1A2 T>C	7	94052839	94052839	T	C	COL1A2	c.2565+409T>C	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94052839T>C	(Likely) benign	1 lab	d3c2542d70
8:55540863 RP1 A>G	8	55540863	55540863	A	G	RP1	c.4421A>G	NM_006269.2	NP_006260.1:p.(His1474Arg)	NC_000008.10:g.55540863A>G	(Likely) benign	1 lab	d3c65c34a4
6:32821499 TAP1 C>G	6	32821499	32821499	C	G	TAP1				NC_000006.11:g.32821499C>G	VUS	1 lab	d3cabebae4
22:20918915 MED15 CCAG>C	22	20918915	20918941	CCAG	C	MED15	c.576_578del	NM_001293237.2	NP_001280166.1:p.(Gln192del)	NC_000022.10:g.20918939_20918941del	(Likely) benign	1 lab	d3cb49262f
9:107548818 ABCA1 A>G	9	107548818	107548818	A	G	ABCA1	c.6309-147T>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548818A>G	(Likely) benign	1 lab	d3ccea5f52
X:9621632 TBL1X C>T	X	9621632	9621632	C	T	TBL1X	c.6C>T	NM_005647.4	NP_005638.1:p.(Thr2=)	NC_000023.10:g.9621632C>T	(Likely) benign	1 lab	d3d3137840
2:197122619 MISSING Ref too long to show for this DEL>T	2	197122619	200886093	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.197122620_200886093del	(Likely) pathogenic	1 lab	d3d4629388
19:50727391 MYH14 G>A	19	50727391	50727391	G	A	MYH14	c.694-20G>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50727391G>A	(Likely) benign	1 lab	d3d8357679
2:241706365 KIF1A C>T	2	241706365	241706365	C	T	KIF1A	c.1651G>A	NM_001244008.2	NP_001230937.1:p.(Val551Ile)	NC_000002.11:g.241706365C>T	VUS	1 lab	d3d9115705
21:45758954 CFAP410 G>GGCTCCTCCCTCCGGCTCCGCCCTCGCCCCGCCCCT	21	45758954	45758964	G	GGCTCCTCCCTCCGGCTCCGCCCTCGCCCCGCCCCT	CFAP410	c.77+46_77+47insAGGGGCGGGGCGAGGGCGGAGCCGGAGGGAGGAGC	NM_001271441.2	NP_001258370.1:p.?	NC_000021.8:g.45758963_45758964insTCCGGCTCCGCCCTCGCCCCGCCCCTGCTCCTCCC	(Likely) benign	1 lab	d3f079603e
2:74596624 DCTN1 A>G	2	74596624	74596624	A	G	DCTN1	c.1393-6T>C	NM_004082.5	NP_004073.2:p.?	NC_000002.11:g.74596624A>G	(Likely) benign	1 lab	d3f0a44b15
5:178554964 ADAMTS2 G>A	5	178554964	178554964	G	A	ADAMTS2	c.2613C>T	NM_014244.5	NP_055059.2:p.(Gly871=)	NC_000005.9:g.178554964G>A	(Likely) benign	1 lab	d3f59fe28e
12:110523851 MISSING Ref too long to show for this DEL>G	12	110523851	112219298	Ref too long to show for this DEL	G	MISSING				NC_000012.11:g.110523852_112219298del	(Likely) pathogenic	1 lab	d3f9b2b64d
6:10813863 MAK TAAAAG>T	6	10813863	10813871	TAAAAG	T	MAK	c.358+9_358+13del	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10813867_10813871del	(Likely) benign	1 lab	d3fa46061f
X:70443937 GJB1 T>G	X	70443937	70443937	T	G	GJB1	c.380T>G	NM_000166.6	NP_000157.1:p.(Ile127Ser)	NC_000023.10:g.70443937T>G	(Likely) pathogenic	1 lab	d3fd392168
12:10051313 MISSING T>Alt too long to show for this DUP	12	10051313	10319362	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.10051314_10319362dup	VUS	1 lab	d3fdc0838b
14:23857491 MYH6 G>T	14	23857491	23857491	G	T	MYH6	c.4232C>A	NM_002471.4	NP_002462.2:p.(Ala1411Asp)	NC_000014.8:g.23857491G>T	VUS	1 lab	d3fef00544
9:137593122 COL5A1 C>A	9	137593122	137593122	C	A	COL5A1	c.597C>A	NM_000093.5	NP_000084.3:p.(Ile199=)	NC_000009.11:g.137593122C>A	(Likely) benign	1 lab	d412f1b1fc
11:116706874 APOA1 C>T	11	116706874	116706874	C	T	APOA1	c.127G>A	NM_001318021.1	NP_001304950.1:p.(Glu43Lys)	NC_000011.9:g.116706874C>T	(Likely) benign	1 lab	d4184fc81b
20:401644 RBCK1 G>T	20	401644	401644	G	T	RBCK1	c.886G>T	NM_031229.4	NP_112506.2:p.(Val296Leu)	NC_000020.10:g.401644G>T	VUS	1 lab	d41cc6ac01
2:189928051 COL5A2 C>T	2	189928051	189928051	C	T	COL5A2	c.1771-55G>A	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189928051C>T	(Likely) benign	1 lab	d420a19d67
18:47116868 LIPG C>T	18	47116868	47116868	C	T	LIPG	c.1482-3C>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47116868C>T	VUS	1 lab	d421a0765e
22:31337565 MORC2 A>G	22	31337565	31337565	A	G	MORC2	c.513-20T>C	NM_014941.3	NP_055756.1:p.?	NC_000022.10:g.31337565A>G	(Likely) benign	1 lab	d43617d803
6:56437626 DST T>C	6	56437626	56437626	T	C	DST	c.7116A>G	NM_001144769.5	NP_001138241.1:p.(Thr2372=)	NC_000006.11:g.56437626T>C	(Likely) benign	1 lab	d436c15395
6:7574314 DSP G>C	6	7574314	7574314	G	C	DSP	c.2131-5G>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574314G>C	(Likely) benign	1 lab	d43aa266ae
14:81609480 TSHR G>C	14	81609480	81609480	G	C	TSHR	c.1078G>C	NM_000369.5	NP_000360.2:p.(Glu360Gln)	NC_000014.8:g.81609480G>C	VUS	1 lab	d43d64f00b
11:17533476 USH1C C>T	11	17533476	17533476	C	T	USH1C	c.1386G>A	NM_153676.4	NP_710142.1:p.(Gln462=)	NC_000011.9:g.17533476C>T	(Likely) benign	1 lab	d44474e4f5
10:112559712 RBM20 A>T	10	112559712	112559712	A	T	RBM20	c.1800+36A>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112559712A>T	(Likely) benign	1 lab	d445b29218
10:115400076 NRAP A>G	10	115400076	115400076	A	G	NRAP	c.1338T>C	NM_198060.4	NP_932326.2:p.(Ala446=)	NC_000010.10:g.115400076A>G	(Likely) benign	1 lab	d445fa888f
1:201175845 IGFN1 C>T	1	201175845	201175845	C	T	IGFN1	c.1824C>T	NM_001164586.2	NP_001158058.1:p.(Ser608=)	NC_000001.10:g.201175845C>T	(Likely) benign	1 lab	d44985fa95
6:139241398 MISSING T>Alt too long to show for this DUP	6	139241398	139461526	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.139241399_139461526dup	VUS	1 lab	d44d41d6d9
1:218578685 TGFB2 T>TTTGTTGTTGTTGTTG	1	218578685	218578717	T	TTTGTTGTTGTTGTTG	TGFB2	c.594+29_594+43dup	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218578703_218578717dup	(Likely) benign	1 lab	d46114f035
15:23890017 MAGEL2 C>T	15	23890017	23890017	C	T	MAGEL2	c.2873G>A	NM_019066.5	NP_061939.3:p.(Trp958Ter)	NC_000015.9:g.23890017C>T	(Likely) pathogenic	1 lab	d461e65528
1:55523833 PCSK9 A>C	1	55523833	55523833	A	C	PCSK9	c.1305A>C	NM_174936.4	NP_777596.2:p.(Val435=)	NC_000001.10:g.55523833A>C	(Likely) benign	1 lab	d46b5669f2
2:179615202 TTN C>T	2	179615202	179615202	C	T	TTN	c.11925G>A	NM_133379.5	NP_596870.2:p.(Val3975=)	NC_000002.11:g.179615202C>T	(Likely) benign	1 lab	d46d527d4a
4:114254270 ANK2 G>A	4	114254270	114254270	G	A	ANK2	c.3285G>A	NM_001148.6	NP_001139.3:p.(Val1095=)	NC_000004.11:g.114254270G>A	(Likely) benign	1 lab	d46d8111a0
2:61719471 XPO1 T>A	2	61719471	61719471	T	A	XPO1	c.1712A>T	NM_003400.4	NP_003391.1:p.(Glu571Val)	NC_000002.11:g.61719471T>A	VUS	1 lab	d46fd1b204
1:236918503 ACTN2 G>A	1	236918503	236918503	G	A	ACTN2	c.1530+5G>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236918503G>A	VUS	1 lab	d473ecad05
1:55505552 PCSK9 ACTGCTGCTG>A	1	55505552	55505575	ACTGCTGCTG	A	PCSK9	c.57_65del	NM_174936.4	NP_777596.2:p.(Leu21_Leu23del)	NC_000001.10:g.55505567_55505575del	(Likely) benign	1 lab	d474782269
10:18828261 CACNB2 C>T	10	18828261	18828261	C	T	CACNB2	c.1507C>T	NM_201571.4	NP_963865.2:p.(Arg503Cys)	NC_000010.10:g.18828261C>T	(Likely) benign	1 lab	d47b9c1e26
11:47369210 MYBPC3 C>G	11	47369210	47369210	C	G	MYBPC3	c.843G>C	NM_000256.3	NP_000247.2:p.(Arg281=)	NC_000011.9:g.47369210C>G	(Likely) benign	1 lab	d47bf2adae
6:126080522 HEY2 G>C	6	126080522	126080522	G	C	HEY2	c.588G>C	NM_012259.3	NP_036391.1:p.(Leu196=)	NC_000006.11:g.126080522G>C	(Likely) benign	1 lab	d47bf4584a
20:54824181 MC3R G>C	20	54824181	54824181	G	C	MC3R	c.282G>C	NM_019888.3	NP_063941.3:p.(Glu94Asp)	NC_000020.10:g.54824181G>C	VUS	1 lab	d47c3ad7a5
1:236924732 ACTN2 CGTGT>C	1	236924732	236924758	CGTGT	C	ACTN2	c.2526+282_2526+285del	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236924755_236924758del	(Likely) benign	1 lab	d47ea7af95
4:100518322 MTTP C>T	4	100518322	100518322	C	T	MTTP	c.1008C>T	NM_000253.4	NP_000244.2:p.(Leu336=)	NC_000004.11:g.100518322C>T	(Likely) benign	1 lab	d47f65abc6
7:103162502 RELN G>A	7	103162502	103162502	G	A	RELN	c.7635C>T	NM_005045.4	NP_005036.2:p.(Ala2545=)	NC_000007.13:g.103162502G>A	(Likely) benign	1 lab	d483b464c9
5:157070556 MISSING C>Alt too long to show for this DUP	5	157070556	157099092	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.157070558_157099092dup	VUS	1 lab	d4858b29a2
10:88659659 BMPR1A G>A	10	88659659	88659659	G	A	BMPR1A	c.430+12G>A	NM_004329.3	NP_004320.2:p.?	NC_000010.10:g.88659659G>A	(Likely) benign	1 lab	d4868045fb
22:51147983 SHANK3 Ref too long to show for this DEL>C	22	51147983	51157531	Ref too long to show for this DEL	C	SHANK3	c.2336-2059_2576-1081del	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51147984_51157531del	VUS	1 lab	d48e81de02
16:30092115 MISSING C>Alt too long to show for this DUP	16	30092115	30162628	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.30092117_30162628dup	VUS	1 lab	d4946f54f5
19:11221313 LDLR C>T	19	11221313	11221313	C	T	LDLR	c.941-15C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221313C>T	(Likely) benign	1 lab	d494704aec
8:19810889 LPL C>T	8	19810889	19810889	C	T	LPL	c.498C>T	NM_000237.3	NP_000228.1:p.(Gly166=)	NC_000008.10:g.19810889C>T	(Likely) benign	1 lab	d494ff92b5
2:179611331 TTN T>C	2	179611331	179611331	T	C	TTN	c.15796A>G	NM_133379.5	NP_596870.2:p.(Ser5266Gly)	NC_000002.11:g.179611331T>C	(Likely) benign	1 lab	d49cebb17a
22:51133249 SHANK3 T>TG	22	51133249	51133251	T	TG	SHANK3	c.1304dup	NM_001372044.2	NP_001358973.1:p.(Ser437GlnfsTer51)	NC_000022.10:g.51133251dup	(Likely) pathogenic	1 lab	d4af534059
4:100534264 MTTP GA>G	4	100534264	100534267	GA	G	MTTP	c.2187del	NM_000253.4	NP_000244.2:p.(Gly730AspfsTer5)	NC_000004.11:g.100534267del	(Likely) pathogenic	1 lab	d4b18ff51f
6:148846277 MISSING T>Alt too long to show for this DUP	6	148846277	149056596	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.148846279_149056596dup	VUS	1 lab	d4b2412600
1:63069784 ANGPTL3 C>T	1	63069784	63069784	C	T	ANGPTL3	c.1076C>T	NM_014495.4	NP_055310.1:p.(Thr359Met)	NC_000001.10:g.63069784C>T	VUS	1 lab	d4b4464cc7
14:23882954 MYH7 A>T	14	23882954	23882954	A	T	MYH7	c.5790+14T>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23882954A>T	(Likely) benign	1 lab	d4bad3f6fb
6:138202383 TNFAIP3 G>A	6	138202383	138202383	G	A	TNFAIP3	c.2300G>A	NM_006290.4	NP_006281.1:p.(Cys767Tyr)	NC_000006.11:g.138202383G>A	VUS	1 lab	d4bd1947e3
17:78082496 GAA GACGTCCAGTGGA>G	17	78082496	78082511	GACGTCCAGTGGA	G	GAA	c.1199_1210del	NM_000152.5	NP_000143.2:p.(Val400_Asn403del)	NC_000017.10:g.78082500_78082511del	(Likely) pathogenic	1 lab	d4be5ee447
6:112466151 LAMA4 A>C	6	112466151	112466151	A	C	LAMA4	c.2354-16T>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112466151A>C	VUS	1 lab	d4c204365a
10:121432041 BAG3 G>A	10	121432041	121432041	G	A	BAG3	c.782G>A	NM_004281.4	NP_004272.2:p.(Arg261Gln)	NC_000010.10:g.121432041G>A	VUS	1 lab	d4c3c752f8
5:139725881 HBEGF G>A	5	139725881	139725881	G	A	HBEGF	c.33C>T	NM_001945.3	NP_001936.1:p.(Leu11=)	NC_000005.9:g.139725881G>A	(Likely) benign	1 lab	d4c53eb947
14:70924335 ADAM21 C>T	14	70924335	70924335	C	T	ADAM21	c.119C>T	NM_003813.4	NP_003804.2:p.(Pro40Leu)	NC_000014.8:g.70924335C>T	(Likely) benign	1 lab	d4d240eedd
10:87833613 GRID1 Ref too long to show for this DEL>C	10	87833613	87975622	Ref too long to show for this DEL	C	GRID1	c.236-9215_726+64962del	NM_017551.3	NP_060021.1:p.?	NC_000010.10:g.87833616_87975622del	VUS	1 lab	d4d7c91d5d
1:55521869 PCSK9 GC>G	1	55521869	55521870	GC	G	PCSK9	c.996+8del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55521870del	(Likely) benign	1 lab	d4d9d23bf2
1:245956211 MISSING Ref too long to show for this DEL>A	1	245956211	248480809	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.245956212_248480809del	(Likely) pathogenic	1 lab	d4deca5cdc
3:179131358 GNB4 T>C	3	179131358	179131358	T	C	GNB4	c.541A>G	NM_021629.4	NP_067642.1:p.(Thr181Ala)	NC_000003.11:g.179131358T>C	VUS	1 lab	d4e095d54b
7:6018253 PMS2 C>T	7	6018253	6018253	C	T	PMS2	c.2249G>A	NM_000535.7	NP_000526.2:p.(Gly750Asp)	NC_000007.13:g.6018253C>T	(Likely) pathogenic	1 lab	d4e465428c
4:74468262 MISSING T>Alt too long to show for this DUP	4	74468262	74517774	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.74468264_74517774dup	VUS	1 lab	d4ed658f44
10:48388547 RBP3 C>T	10	48388547	48388547	C	T	RBP3	c.2331G>A	NM_002900.3	NP_002891.1:p.(Ala777=)	NC_000010.10:g.48388547C>T	(Likely) benign	1 lab	d4eee2a65f
5:78610460 JMY A>C	5	78610460	78610460	A	C	JMY	c.2445A>C	NM_152405.5	NP_689618.4:p.(Pro815=)	NC_000005.9:g.78610460A>C	(Likely) benign	1 lab	d4f32f9f1b
17:29490318 NF1 C>T	17	29490318	29490318	C	T	NF1	c.403C>T	NM_001042492.3	NP_001035957.1:p.(Arg135Trp)	NC_000017.10:g.29490318C>T	VUS	1 lab	d4fb7af65f
9:137686853 COL5A1 A>G	9	137686853	137686853	A	G	COL5A1	c.2701-75A>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137686853A>G	(Likely) benign	1 lab	d4fde3ff9f
11:47602183 NDUFS3 T>C	11	47602183	47602183	T	C	NDUFS3	c.231+9T>C	NM_004551.3	NP_004542.1:p.?	NC_000011.9:g.47602183T>C	(Likely) benign	1 lab	d50295cfe3
11:78399216 TENM4 T>C	11	78399216	78399216	T	C	TENM4	c.5143A>G	NM_001098816.3	NP_001092286.2:p.(Ser1715Gly)	NC_000011.9:g.78399216T>C	VUS	1 lab	d508e02dfa
2:179422286 TTN-AS1 C>A	2	179422286	179422286	C	A	TTN-AS1	n.2043+15198C>A	NR_038272.1		NC_000002.11:g.179422286C>A	(Likely) benign	1 lab	d50dc561ee
9:107564839 ABCA1 C>T	9	107564839	107564839	C	T	ABCA1	c.4593-399G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564839C>T	(Likely) benign	1 lab	d51086f1a6
15:48756079 FBN1 G>A	15	48756079	48756079	G	A	FBN1	c.5065+17C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48756079G>A	(Likely) benign	1 lab	d510eec815
1:55523178 PCSK9 C>A	1	55523178	55523178	C	A	PCSK9	c.1171C>A	NM_174936.4	NP_777596.2:p.(His391Asn)	NC_000001.10:g.55523178C>A	VUS	1 lab	d51149132c
19:40902505 PRX A>G	19	40902505	40902505	A	G	PRX	c.1754T>C	NM_181882.3	NP_870998.2:p.(Met585Thr)	NC_000019.9:g.40902505A>G	VUS	1 lab	d511e5cd44
10:94381133 KIF11 C>T	10	94381133	94381133	C	T	KIF11	c.1129-9C>T	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94381133C>T	(Likely) benign	1 lab	d516a0ba1e
9:107607789 ABCA1 A>G	9	107607789	107607789	A	G	ABCA1	c.782T>C	NM_005502.4	NP_005493.2:p.(Leu261Ser)	NC_000009.11:g.107607789A>G	(Likely) benign	1 lab	d5190c4c34
17:11887518 ZNF18 GA>G	17	11887518	11887534	GA	G	ZNF18	c.667-5del	NM_144680.4	NP_653281.2:p.?	NC_000017.10:g.11887534del	(Likely) benign	1 lab	d5199ad3bc
9:107547881 ABCA1 C>T	9	107547881	107547881	C	T	ABCA1	c.6441G>A	NM_005502.4	NP_005493.2:p.(Gly2147=)	NC_000009.11:g.107547881C>T	(Likely) benign	1 lab	d51cae5569
X:77262520 ATP7A A>Alt too long to show for this DUP	X	77262520	77268575	A	Alt too long to show for this DUP	ATP7A	c.1708-2078_2372dup	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77262521_77268575dup	VUS	1 lab	d51ef162a4
3:9899496 MISSING A>Alt too long to show for this DUP	3	9899496	10082735	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.9899497_10082735dup	VUS	1 lab	d51f6c3d0b
15:40259848 EIF2AK4 A>C	15	40259848	40259848	A	C	EIF2AK4	c.1321A>C	NM_001013703.4	NP_001013725.2:p.(Ile441Leu)	NC_000015.9:g.40259848A>C	(Likely) benign	1 lab	d5249c5658
20:42747231 JPH2 G>A	20	42747231	42747231	G	A	JPH2	c.1202C>T	NM_020433.5	NP_065166.2:p.(Ala401Val)	NC_000020.10:g.42747231G>A	VUS	1 lab	d5292507ca
9:135204294 SETX G>C	9	135204294	135204294	G	C	SETX	c.2691C>G	NM_001351527.2	NP_001338456.1:p.(Ile897Met)	NC_000009.11:g.135204294G>C	VUS	1 lab	d52f251149
17:48265375 COL1A1 C>T	17	48265375	48265375	C	T	COL1A1	c.3262-31G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48265375C>T	(Likely) benign	1 lab	d53aef00ab
2:62069452 FAM161A G>A	2	62069452	62069452	G	A	FAM161A	c.227C>T	NM_001201543.2	NP_001188472.1:p.(Pro76Leu)	NC_000002.11:g.62069452G>A	VUS	1 lab	d53f5ae550
19:15295801 NOTCH3 T>C	19	15295801	15295801	T	C	NOTCH3	c.2326A>G	NM_000435.3	NP_000426.2:p.(Thr776Ala)	NC_000019.9:g.15295801T>C	VUS	1 lab	d53ff0e94e
9:107546579 ABCA1 C>T	9	107546579	107546579	C	T	ABCA1	c.*17G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107546579C>T	VUS	1 lab	d540bcf611
1:27106861 ARID1A C>G	1	27106861	27106861	C	G	ARID1A	c.6472C>G	NM_006015.6	NP_006006.3:p.(Arg2158Gly)	NC_000001.10:g.27106861C>G	VUS	1 lab	d541c6f0e5
15:34531234 SLC12A6 G>A	15	34531234	34531234	G	A	SLC12A6	c.2537C>T	NM_001042496.2	NP_001035961.1:p.(Thr846Met)	NC_000015.9:g.34531234G>A	VUS	1 lab	d541f46101
10:73537418 CDH23 G>C	10	73537418	73537418	G	C	CDH23	c.4846-19G>C	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73537418G>C	(Likely) benign	1 lab	d542b4a298
X:70360623 MED12 ACAG>A	X	70360623	70360640	ACAG	A	MED12	c.6198_6200del	NM_005120.3	NP_005111.2:p.(Gln2076del)	NC_000023.10:g.70360638_70360640del	(Likely) benign	1 lab	d54b2489c0
3:7620446 GRM7 C>T	3	7620446	7620446	C	T	GRM7	c.1853C>T	NM_181874.3	NP_870989.1:p.(Thr618Met)	NC_000003.11:g.7620446C>T	VUS	1 lab	d54ced0140
1:156106080 LMNA TG>T	1	156106080	156106085	TG	T	LMNA	c.1238del	NM_170707.4	NP_733821.1:p.(Gly413AlafsTer67)	NC_000001.10:g.156106085del	(Likely) pathogenic	1 lab	d54eef1d2c
9:135772857 TSC1 A>C	9	135772857	135772857	A	C	TSC1	c.2766T>G	NM_000368.5	NP_000359.1:p.(Leu922=)	NC_000009.11:g.135772857A>C	(Likely) benign	1 lab	d5526e8a9a
9:32542203 TOPORS T>C	9	32542203	32542203	T	C	TOPORS	c.2320A>G	NM_005802.5	NP_005793.2:p.(Ser774Gly)	NC_000009.11:g.32542203T>C	VUS	1 lab	d55715d359
1:55519015 PCSK9 G>T	1	55519015	55519015	G	T	PCSK9	c.799+551G>T	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55519015G>T	(Likely) benign	1 lab	d5574d769f
14:105174814 INF2 G>A	14	105174814	105174814	G	A	INF2	c.1777G>A	NM_022489.4	NP_071934.3:p.(Glu593Lys)	NC_000014.8:g.105174814G>A	VUS	1 lab	d558835b61
17:40688643 NAGLU C>T	17	40688643	40688643	C	T	NAGLU	c.353C>T	NM_000263.4	NP_000254.2:p.(Pro118Leu)	NC_000017.10:g.40688643C>T	VUS	1 lab	d55a128d8a
1:3329262 PRDM16 G>C	1	3329262	3329262	G	C	PRDM16	c.2501G>C	NM_022114.4	NP_071397.3:p.(Gly834Ala)	NC_000001.10:g.3329262G>C	VUS	1 lab	d55a74e998
20:34061743 CEP250 G>A	20	34061743	34061743	G	A	CEP250	c.1437G>A	NM_007186.6	NP_009117.2:p.(Leu479=)	NC_000020.10:g.34061743G>A	(Likely) benign	1 lab	d56011d467
5:126154620 LMNB1 G>C	5	126154620	126154620	G	C	LMNB1	c.946G>C	NM_005573.4	NP_005564.1:p.(Ala316Pro)	NC_000005.9:g.126154620G>C	VUS	1 lab	d560a8de62
19:11231094 LDLR A>G	19	11231094	11231094	A	G	LDLR	c.2036A>G	NM_000527.5	NP_000518.1:p.(Tyr679Cys)	NC_000019.9:g.11231094A>G	VUS	1 lab	d56e176a66
X:43552580 MAOA G>T	X	43552580	43552580	G	T	MAOA	c.211G>T	NM_000240.4	NP_000231.1:p.(Gly71Ter)	NC_000023.10:g.43552580G>T	(Likely) pathogenic	1 lab	d56f916c6c
3:124952457 ZNF148 C>T	3	124952457	124952457	C	T	ZNF148	c.1113G>A	NM_021964.3	NP_068799.2:p.(Ser371=)	NC_000003.11:g.124952457C>T	(Likely) benign	1 lab	d570a4d35f
11:47370479 MYBPC3 T>TATATATATATATATATATATATATATATATATATATATATATATATA	11	47370479	47370480	T	TATATATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-388_655-387insTATATATATATATATATATATATATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370479_47370480insATATATATATATATATATATATATATATATATATATATATATATATA	(Likely) benign	1 lab	d570c9d77c
15:48737059 FBN1 T>G	15	48737059	48737059	T	G	FBN1	c.5918-202A>C	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48737059T>G	(Likely) benign	1 lab	d5732035e4
6:7580913 DSP G>A	6	7580913	7580913	G	A	DSP	c.4490G>A	NM_004415.4	NP_004406.2:p.(Arg1497Gln)	NC_000006.11:g.7580913G>A	(Likely) benign	1 lab	d574770d70
1:86079451 MISSING A>Alt too long to show for this DUP	1	86079451	86173426	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.86079452_86173426dup	VUS	1 lab	d574fc9829
7:91694755 AKAP9 A>G	7	91694755	91694755	A	G	AKAP9	c.6188A>G	NM_005751.5	NP_005742.4:p.(Glu2063Gly)	NC_000007.13:g.91694755A>G	VUS	1 lab	d57642b6c2
8:59409582 CYP7A1 G>A	8	59409582	59409582	G	A	CYP7A1	c.489C>T	NM_000780.4	NP_000771.2:p.(Thr163=)	NC_000008.10:g.59409582G>A	(Likely) benign	1 lab	d579627e2a
9:137629979 COL5A1 C>G	9	137629979	137629979	C	G	COL5A1	c.1390-341C>G	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137629979C>G	(Likely) benign	1 lab	d5796af67f
3:38648190 SCN5A C>T	3	38648190	38648190	C	T	SCN5A	c.1110G>A	NM_198056.3	NP_932173.1:p.(Thr370=)	NC_000003.11:g.38648190C>T	(Likely) benign	1 lab	d57e7e5c1b
3:121526296 IQCB1 G>A	3	121526296	121526296	G	A	IQCB1	c.488-6C>T	NM_001023570.4	NP_001018864.2:p.?	NC_000003.11:g.121526296G>A	(Likely) benign	1 lab	d57fb4bf3e
3:14193816 XPC A>AC	3	14193816	14193822	A	AC	XPC	c.2115+18dup	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14193822dup	(Likely) benign	1 lab	d58931d591
9:67926886 ANKRD20A1 G>C	9	67926886	67926886	G	C	ANKRD20A1	c.14G>C	NM_032250.5	NP_115626.2:p.(Gly5Ala)	NC_000009.11:g.67926886G>C	(Likely) benign	1 lab	d58c2c08ba
2:177135093 MISSING G>Alt too long to show for this DUP	2	177135093	177252078	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.177135096_177252078dup	VUS	1 lab	d58dd0bd50
16:89858425 FANCA G>A	16	89858425	89858425	G	A	FANCA	c.1135C>T	NM_000135.4	NP_000126.2:p.(Leu379=)	NC_000016.9:g.89858425G>A	(Likely) benign	1 lab	d591f3cde1
2:241685247 KIF1A G>A	2	241685247	241685247	G	A	KIF1A	c.3282C>T	NM_001244008.2	NP_001230937.1:p.(His1094=)	NC_000002.11:g.241685247G>A	(Likely) benign	1 lab	d5933d2206
12:50499447 GPD1 C>T	12	50499447	50499447	C	T	GPD1	c.336C>T	NM_005276.4	NP_005267.2:p.(Asn112=)	NC_000012.11:g.50499447C>T	(Likely) benign	1 lab	d59898edb8
2:179577467 TTN A>G	2	179577467	179577467	A	G	TTN	c.27285T>C	NM_001267550.2	NP_001254479.2:p.(Asn9095=)	NC_000002.11:g.179577467A>G	(Likely) benign	1 lab	d59a296541
3:53962588 MISSING Ref too long to show for this DEL>C	3	53962588	55076576	Ref too long to show for this DEL	C	MISSING				NC_000003.11:g.53962589_55076576del	VUS	1 lab	d59b6e6f6d
2:21229263 APOB C>T	2	21229263	21229263	C	T	APOB	c.10477G>A	NM_000384.3	NP_000375.3:p.(Glu3493Lys)	NC_000002.11:g.21229263C>T	VUS	1 lab	d5a8b5bc39
19:10887847 DNM2 G>A	19	10887847	10887847	G	A	DNM2	c.643G>A	NM_001005360.3	NP_001005360.1:p.(Asp215Asn)	NC_000019.9:g.10887847G>A	(Likely) benign	1 lab	d5aa369f78
14:64457182 SYNE2 T>C	14	64457182	64457182	T	C	SYNE2	c.2367T>C	NM_182914.3	NP_878918.2:p.(Asp789=)	NC_000014.8:g.64457182T>C	(Likely) benign	1 lab	d5ab0d6de5
11:85367388 TMEM126A T>C	11	85367388	85367388	T	C	TMEM126A	c.431T>C	NM_032273.4	NP_115649.1:p.(Ile144Thr)	NC_000011.9:g.85367388T>C	VUS	1 lab	d5b097c36c
X:70096025 TEX11 G>Alt too long to show for this DUP	X	70096025	70133098	G	Alt too long to show for this DUP	TEX11				NC_000023.10:g.70096027_70133098dup	VUS	1 lab	d5b3cc9658
9:139412379 NOTCH1 G>T	9	139412379	139412379	G	T	NOTCH1	c.1266C>A	NM_017617.5	NP_060087.3:p.(Pro422=)	NC_000009.11:g.139412379G>T	(Likely) benign	1 lab	d5b4d6d539
8:19813461 LPL A>C	8	19813461	19813461	A	C	LPL	c.885A>C	NM_000237.3	NP_000228.1:p.(Glu295Asp)	NC_000008.10:g.19813461A>C	VUS	1 lab	d5b80ec9e2
22:21350054 LZTR1 C>T	22	21350054	21350054	C	T	LZTR1	c.1962C>T	NM_006767.4	NP_006758.2:p.(Asp654=)	NC_000022.10:g.21350054C>T	(Likely) benign	1 lab	d5bba7f896
11:65318854 LTBP3 C>T	11	65318854	65318854	C	T	LTBP3	c.1621+19G>A	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65318854C>T	(Likely) benign	1 lab	d5bf6b78c9
1:236918518 ACTN2 G>A	1	236918518	236918518	G	A	ACTN2	c.1530+20G>A	NM_001278344.2	NP_001265273.1:p.?	NC_000001.10:g.236918518G>A	(Likely) benign	1 lab	d5c060066d
8:1904899 ARHGEF10 C>A	8	1904899	1904899	C	A	ARHGEF10	c.3593-16C>A	NM_001308153.2	NP_001295082.1:p.?	NC_000008.10:g.1904899C>A	(Likely) benign	1 lab	d5c54273d7
7:112101908 IFRD1 T>TA	7	112101908	112101909	T	TA	IFRD1	c.568-13_568-12insA	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101908_112101909insA	(Likely) benign	1 lab	d5c55fe114
17:45286901 MYL4 C>A	17	45286901	45286901	C	A	MYL4	c.113C>A	NM_001002841.2	NP_001002841.1:p.(Ala38Asp)	NC_000017.10:g.45286901C>A	VUS	1 lab	d5ca19010e
16:53720502 RPGRIP1L C>G	16	53720502	53720502	C	G	RPGRIP1L	c.633-14G>C	NM_001330538.2	NP_001317467.1:p.?	NC_000016.9:g.53720502C>G	(Likely) benign	1 lab	d5caf87318
8:100182306 VPS13B A>G	8	100182306	100182306	A	G	VPS13B	c.2248A>G	NM_017890.5	NP_060360.3:p.(Ser750Gly)	NC_000008.10:g.100182306A>G	(Likely) benign	1 lab	d5cd412b7d
2:179592113 TTN A>C	2	179592113	179592113	A	C	TTN	c.19994-15T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179592113A>C	(Likely) benign	1 lab	d5cf0a6bd5
15:85401631 ALPK3 C>T	15	85401631	85401631	C	T	ALPK3	c.3662C>T	NM_020778.5	NP_065829.4:p.(Ala1221Val)	NC_000015.9:g.85401631C>T	VUS	1 lab	d5d22cd395
1:210061596 MISSING Ref too long to show for this DEL>G	1	210061596	210273886	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.210061597_210273886del	VUS	1 lab	d5d35ecb65
5:147807426 FBXO38 G>A	5	147807426	147807426	G	A	FBXO38	c.2569G>A	NM_205836.3	NP_995308.1:p.(Val857Met)	NC_000005.9:g.147807426G>A	VUS	1 lab	d5d6186978
17:19559623 ALDH3A2 G>A	17	19559623	19559623	G	A	ALDH3A2	c.472-56G>A	NM_001031806.2	NP_001026976.1:p.?	NC_000017.10:g.19559623G>A	(Likely) benign	1 lab	d5d8562ce2
9:79960058 VPS13A G>A	9	79960058	79960058	G	A	VPS13A	c.7289G>A	NM_033305.3	NP_150648.2:p.(Ser2430Asn)	NC_000009.11:g.79960058G>A	(Likely) benign	1 lab	d5d9fc1026
X:38160494 RPGR C>T	X	38160494	38160494	C	T	RPGR	c.1059+6G>A	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38160494C>T	(Likely) benign	1 lab	d5dc6d3fde
1:3102983 PRDM16 G>A	1	3102983	3102983	G	A	PRDM16	c.332G>A	NM_022114.4	NP_071397.3:p.(Gly111Asp)	NC_000001.10:g.3102983G>A	VUS	1 lab	d5dcd61b7f
15:58855889 LIPC C>T	15	58855889	58855889	C	T	LIPC	c.1355C>T	NM_000236.3	NP_000227.2:p.(Thr452Met)	NC_000015.9:g.58855889C>T	VUS	1 lab	d5e4101553
7:143964126 CTAGE8 T>C	7	143964126	143964126	T	C	CTAGE8	c.2218A>G	NM_001278507.1	NP_001265436.1:p.(Arg740Gly)	NC_000007.13:g.143964126T>C	(Likely) benign	1 lab	d5f05d4a4f
7:81593384 CACNA2D1 G>C	7	81593384	81593384	G	C	CACNA2D1	c.2768C>G	NM_000722.4	NP_000713.2:p.(Thr923Ser)	NC_000007.13:g.81593384G>C	(Likely) benign	1 lab	d5f27d9dd7
16:2126056 TSC2 C>T	16	2126056	2126056	C	T	TSC2	c.2640-13C>T	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2126056C>T	(Likely) benign	1 lab	d5f567cacc
7:128486357 FLNC G>T	7	128486357	128486357	G	T	FLNC	c.3967G>T	NM_001458.5	NP_001449.3:p.(Val1323Leu)	NC_000007.13:g.128486357G>T	VUS	1 lab	d5fb10208c
2:21250178 APOB ATTT>A	2	21250178	21250201	ATTT	A	APOB	c.2068-345_2068-343del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250199_21250201del	(Likely) benign	1 lab	d5ff73b5d1
5:171479786 STK10 Ref too long to show for this DEL>C	5	171479786	171558795	Ref too long to show for this DEL	C	STK10	c.322-4370_2766+146del	NM_005990.4	NP_005981.3:p.?	NC_000005.9:g.171479787_171558795del	VUS	1 lab	d60327d6a5
1:38168931 CDCA8 C>T	1	38168931	38168931	C	T	CDCA8	c.496C>T	NM_001256875.2	NP_001243804.1:p.(Arg166Cys)	NC_000001.10:g.38168931C>T	VUS	1 lab	d6105ac536
14:23870024 MYH6 T>C	14	23870024	23870024	T	C	MYH6	c.1304A>G	NM_002471.4	NP_002462.2:p.(Lys435Arg)	NC_000014.8:g.23870024T>C	VUS	1 lab	d6109c64a6
20:10626553 JAG1 G>A	20	10626553	10626553	G	A	JAG1	c.1999+66C>T	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10626553G>A	(Likely) benign	1 lab	d6178ffb05
X:39933677 BCOR G>A	X	39933677	39933677	G	A	BCOR	c.922C>T	NM_001123385.2	NP_001116857.1:p.(Gln308Ter)	NC_000023.10:g.39933677G>A	(Likely) pathogenic	1 lab	d61bb651db
7:103202406 RELN C>CAAA	7	103202406	103202425	C	CAAA	RELN	c.5211-9_5211-7dup	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103202423_103202425dup	(Likely) benign	1 lab	d61e65ac78
10:72619205 SGPL1 C>T	10	72619205	72619205	C	T	SGPL1	c.564C>T	NM_003901.4	NP_003892.2:p.(Ile188=)	NC_000010.10:g.72619205C>T	(Likely) benign	1 lab	d62102de48
12:22063251 ABCC9 CAAA>C	12	22063251	22063265	CAAA	C	ABCC9	c.1165-8_1165-6del	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063263_22063265del	(Likely) benign	1 lab	d627847fb9
7:150646082 KCNH2 C>T	7	150646082	150646082	C	T	KCNH2	c.2454G>A	NM_000238.4	NP_000229.1:p.(Ser818=)	NC_000007.13:g.150646082C>T	(Likely) benign	1 lab	d627c91e2e
2:179553813 TTN C>T	2	179553813	179553813	C	T	TTN	c.32062G>A	NM_001267550.2	NP_001254479.2:p.(Val10688Ile)	NC_000002.11:g.179553813C>T	VUS	1 lab	d62da7076c
17:29686894 MISSING G>Alt too long to show for this DUP	17	29686894	29711411	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.29686895_29711411dup	VUS	1 lab	d6366ae7a8
15:58853057 LIPC C>A	15	58853057	58853057	C	A	LIPC	c.1052-6C>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58853057C>A	(Likely) benign	1 lab	d638d27006
X:153171327 L1CAM A>Alt too long to show for this DUP	X	153171327	153176959	A	Alt too long to show for this DUP	L1CAM				NC_000023.10:g.153171328_153176959dup	VUS	1 lab	d63addccc0
6:7571190 DSP T>C	6	7571190	7571190	T	C	DSP	c.1701+394T>C	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7571190T>C	(Likely) benign	1 lab	d63f4e667b
6:76728583 IMPG1 TAA>T	6	76728583	76728597	TAA	T	IMPG1	c.667-10_667-9del	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76728596_76728597del	(Likely) benign	1 lab	d6447cb77c
7:91630755 AKAP9 A>G	7	91630755	91630755	A	G	AKAP9	c.1524A>G	NM_005751.5	NP_005742.4:p.(Gln508=)	NC_000007.13:g.91630755A>G	(Likely) benign	1 lab	d64553694d
15:85406880 ALPK3 G>T	15	85406880	85406880	G	T	ALPK3	c.4499+9G>T	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85406880G>T	(Likely) benign	1 lab	d64844ecb8
6:27114569 H2BC12 T>C	6	27114569	27114569	T	C	H2BC12	c.9A>G	NM_080593.2	NP_542160.1:p.(Glu3=)	NC_000006.11:g.27114569T>C	(Likely) benign	1 lab	d648a8877a
18:58039278 MC4R A>G	18	58039278	58039278	A	G	MC4R	c.305T>C	NM_005912.3	NP_005903.2:p.(Ile102Thr)	NC_000018.9:g.58039278A>G	VUS	1 lab	d6528629d1
5:95729044 PCSK1 C>T	5	95729044	95729044	C	T	PCSK1	c.1923G>A	NM_000439.5	NP_000430.3:p.(Leu641=)	NC_000005.9:g.95729044C>T	(Likely) benign	1 lab	d65981e5fc
15:89850922 FANCI G>A	15	89850922	89850922	G	A	FANCI	c.3651+19G>A	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89850922G>A	(Likely) benign	1 lab	d65b52c85f
13:32918807 BRCA2 A>G	13	32918807	32918807	A	G	BRCA2	c.6937+17A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32918807A>G	(Likely) benign	1 lab	d65c3e70ad
16:88499521 ZNF469 C>T	16	88499521	88499521	C	T	ZNF469	c.5643C>T	NM_001367624.2	NP_001354553.1:p.(Pro1881=)	NC_000016.9:g.88499521C>T	(Likely) benign	1 lab	d65e22181f
15:45388020 DUOX2 G>A	15	45388020	45388020	G	A	DUOX2	c.4080+6C>T	NM_001363711.2	NP_001350640.1:p.?	NC_000015.9:g.45388020G>A	(Likely) benign	1 lab	d65fdd162e
13:32968816 BRCA2 T>A	13	32968816	32968816	T	A	BRCA2	c.9257-10T>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32968816T>A	VUS	1 lab	d67fae39e3
6:66063413 EYS T>C	6	66063413	66063413	T	C	EYS	c.1397A>G	NM_001292009.2	NP_001278938.1:p.(His466Arg)	NC_000006.11:g.66063413T>C	VUS	1 lab	d660a0d15e
2:189856300 COL3A1 C>A	2	189856300	189856300	C	A	COL3A1	c.897+43C>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856300C>A	(Likely) benign	1 lab	d663e45f9f
5:127625409 FBN2 A>T	5	127625409	127625409	A	T	FBN2	c.6511+165T>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625409A>T	(Likely) benign	1 lab	d6642cc267
8:61757451 CHD7 C>T	8	61757451	61757451	C	T	CHD7	c.4879C>T	NM_017780.4	NP_060250.2:p.(His1627Tyr)	NC_000008.10:g.61757451C>T	VUS	1 lab	d666d44c4e
19:8654106 ADAMTS10 G>A	19	8654106	8654106	G	A	ADAMTS10	c.2158+20C>T	NM_030957.4	NP_112219.3:p.?	NC_000019.9:g.8654106G>A	(Likely) benign	1 lab	d66ec76944
1:110168793 AMPD2 AC>A	1	110168793	110168794	AC	A	AMPD2	c.174del	NM_001257361.2	NP_001244290.1:p.(Asp58GlufsTer11)	NC_000001.10:g.110168794del	(Likely) pathogenic	1 lab	d66f5bc95b
6:73043440 RIMS1 T>G	6	73043440	73043440	T	G	RIMS1	c.4268T>G	NM_014989.6	NP_055804.2:p.(Val1423Gly)	NC_000006.11:g.73043440T>G	VUS	1 lab	d6712be960
22:51065827 ARSA G>A	22	51065827	51065827	G	A	ARSA	c.232C>T	NM_000487.6	NP_000478.3:p.(Leu78Phe)	NC_000022.10:g.51065827G>A	VUS	1 lab	d673d74ee6
19:11217342 LDLR G>T	19	11217342	11217342	G	T	LDLR	c.796G>T	NM_000527.5	NP_000518.1:p.(Asp266Tyr)	NC_000019.9:g.11217342G>T	(Likely) pathogenic	1 lab	d675e5cdef
19:39016117 RYR1 C>T	19	39016117	39016117	C	T	RYR1	c.10601C>T	NM_000540.3	NP_000531.2:p.(Thr3534Met)	NC_000019.9:g.39016117C>T	VUS	1 lab	d67765a92a
19:50905478 POLD1 C>T	19	50905478	50905478	C	T	POLD1	c.606C>T	NM_001256849.1	NP_001243778.1:p.(His202=)	NC_000019.9:g.50905478C>T	(Likely) benign	1 lab	d67973fdef
20:32818199 MISSING C>Alt too long to show for this DUP	20	32818199	33051525	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.32818200_33051525dup	VUS	1 lab	d67b60a826
19:7601172 PNPLA6 C>T	19	7601172	7601172	C	T	PNPLA6	c.342+13C>T	NM_001166111.2	NP_001159583.1:p.?	NC_000019.9:g.7601172C>T	(Likely) benign	1 lab	d67cac51da
12:124360032 DNAH10 C>T	12	124360032	124360032	C	T	DNAH10	c.7839C>T	NM_207437.3	NP_997320.2:p.(His2613=)	NC_000012.11:g.124360032C>T	(Likely) benign	1 lab	d67d4b0eeb
10:67680129 CTNNA3 A>G	10	67680129	67680129	A	G	CTNNA3	c.2647T>C	NM_013266.4	NP_037398.2:p.(Leu883=)	NC_000010.10:g.67680129A>G	(Likely) benign	1 lab	d67dfe51f8
1:6579521 PLEKHG5 G>C	1	6579521	6579521	G	C	PLEKHG5	c.-181C>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6579521G>C	(Likely) benign	1 lab	d680114483
6:56494033 DST A>T	6	56494033	56494033	A	T	DST	c.4376+15T>A	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56494033A>T	(Likely) benign	1 lab	d681b81a25
3:38627189 SCN5A T>C	3	38627189	38627189	T	C	SCN5A	c.2780A>G	NM_198056.3	NP_932173.1:p.(Asn927Ser)	NC_000003.11:g.38627189T>C	(Likely) pathogenic	1 lab	d683908404
6:70411770 LMBRD1 A>G	6	70411770	70411770	A	G	LMBRD1	c.980+11T>C	NM_018368.4	NP_060838.3:p.?	NC_000006.11:g.70411770A>G	(Likely) benign	1 lab	d684158c4b
16:15831536 MYH11 A>G	16	15831536	15831536	A	G	MYH11	c.3143-59T>C	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15831536A>G	(Likely) benign	1 lab	d686cda652
11:47356485 MYBPC3 GTT>G	11	47356485	47356487	GTT	G	MYBPC3	c.2905+106_2905+107del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356486_47356487del	(Likely) benign	1 lab	d691db78e5
19:55377279 KIR3DL2 T>C	19	55377279	55377279	T	C	KIR3DL2	c.1020T>C	NM_006737.4	NP_006728.2:p.(His340=)	NC_000019.9:g.55377279T>C	(Likely) benign	1 lab	d6962c47dd
2:189860380 COL3A1 G>A	2	189860380	189860380	G	A	COL3A1	c.1510-38G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189860380G>A	(Likely) benign	1 lab	d697d6da3e
5:32774777 NPR3 G>C	5	32774777	32774777	G	C	NPR3	c.1060-37G>C	NM_000908.4	NP_000899.1:p.?	NC_000005.9:g.32774777G>C	(Likely) benign	1 lab	d69872cf60
8:145742816 RECQL4 G>C	8	145742816	145742816	G	C	RECQL4	c.195C>G	NM_004260.4	NP_004251.4:p.(Leu65=)	NC_000008.10:g.145742816G>C	(Likely) benign	1 lab	d69b73d9e0
14:92548785 ATXN3 C>T	14	92548785	92548785	C	T	ATXN3	c.634G>A	NM_004993.6	NP_004984.2:p.(Val212Met)	NC_000014.8:g.92548785C>T	(Likely) benign	1 lab	d69e039783
6:56337038 DST C>G	6	56337038	56337038	C	G	DST	c.15638-18G>C	NM_001144769.5	NP_001138241.1:p.?	NC_000006.11:g.56337038C>G	(Likely) benign	1 lab	d69fb16a0b
5:149263110 PDE6A T>A	5	149263110	149263110	T	A	PDE6A	c.2028-11A>T	NM_000440.3	NP_000431.2:p.?	NC_000005.9:g.149263110T>A	(Likely) benign	1 lab	d6a16b6c7b
10:18037327 MISSING G>Alt too long to show for this DUP	10	18037327	18223635	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.18037329_18223635dup	VUS	1 lab	d6c1ced0d9
12:122247743 SETD1B T>A	12	122247743	122247743	T	A	SETD1B	c.892T>A	NM_001353345.2	NP_001340274.1:p.(Tyr298Asn)	NC_000012.11:g.122247743T>A	VUS	1 lab	d6a6627618
4:100534482 MTTP A>T	4	100534482	100534482	A	T	MTTP	c.2217+185A>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100534482A>T	(Likely) benign	1 lab	d6a75b9e84
2:112705158 MERTK G>A	2	112705158	112705158	G	A	MERTK	c.757+14G>A	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112705158G>A	(Likely) benign	1 lab	d6a7a14283
22:51065840 ARSA G>A	22	51065840	51065840	G	A	ARSA	c.225-6C>T	NM_000487.6	NP_000478.3:p.?	NC_000022.10:g.51065840G>A	(Likely) benign	1 lab	d6a80fbacd
4:16188181 TAPT1 T>C	4	16188181	16188181	T	C	TAPT1	c.893A>G	NM_153365.3	NP_699196.2:p.(Asn298Ser)	NC_000004.11:g.16188181T>C	VUS	1 lab	d6a8bb0a2c
11:102100654 YAP1 T>G	11	102100654	102100654	T	G	YAP1	c.1510T>G	NM_001282101.2	NP_001269030.1:p.(Phe504Val)	NC_000011.9:g.102100654T>G	VUS	1 lab	d6ab94fee4
2:179442548 TTN C>T	2	179442548	179442548	C	T	TTN	c.60901G>A	NM_133378.4	NP_596869.4:p.(Gly20301Ser)	NC_000002.11:g.179442548C>T	VUS	1 lab	d6b22eddf2
9:107555577 ABCA1 C>G	9	107555577	107555577	C	G	ABCA1	c.5511G>C	NM_005502.4	NP_005493.2:p.(Glu1837Asp)	NC_000009.11:g.107555577C>G	VUS	1 lab	d6b3f9dc2a
4:15982165 PROM1 G>GA	4	15982165	15982174	G	GA	PROM1	c.2347-6dup	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15982174dup	(Likely) benign	1 lab	d6b701e468
13:107964643 NALF1 Ref too long to show for this DEL>C	13	107964643	108057614	Ref too long to show for this DEL	C	NALF1	c.916-194510_916-101541del	NM_001080396.3	NP_001073865.1:p.?	NC_000013.10:g.107964645_108057614del	VUS	1 lab	d6b7023d28
15:85360734 ALPK3 G>T	15	85360734	85360734	G	T	ALPK3	c.51G>T	NM_020778.5	NP_065829.4:p.(Ser17=)	NC_000015.9:g.85360734G>T	(Likely) benign	1 lab	d6b88b1fa6
15:58856351 LIPC A>ATCTCTC	15	58856351	58856374	A	ATCTCTC	LIPC	c.1388+447_1388+452dup	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856369_58856374dup	(Likely) benign	1 lab	d6b9f62054
2:179485203 TTN A>G	2	179485203	179485203	A	G	TTN	c.46045T>C	NM_001267550.2	NP_001254479.2:p.(Tyr15349His)	NC_000002.11:g.179485203A>G	VUS	1 lab	d6bf6e04ac
2:179516495 TTN T>C	2	179516495	179516495	T	C	TTN	c.39380-19A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179516495T>C	(Likely) benign	1 lab	d6bfe61415
8:55539124 RP1 T>G	8	55539124	55539124	T	G	RP1	c.2682T>G	NM_006269.2	NP_006260.1:p.(Ser894=)	NC_000008.10:g.55539124T>G	(Likely) benign	1 lab	d6c2958a51
3:148062711 MISSING Ref too long to show for this DEL>A	3	148062711	148147770	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.148062712_148147770del	VUS	1 lab	d6c423b286
13:95091879 DCT TG>T	13	95091879	95091889	TG	T	DCT	c.*272del	NM_001922.5	NP_001913.2:p.?	NC_000013.10:g.95091889del	(Likely) benign	1 lab	d6c7f5c7ba
15:76726440 SCAPER T>C	15	76726440	76726440	T	C	SCAPER	c.3308A>G	NM_001353009.2	NP_001339938.1:p.(Asn1103Ser)	NC_000015.9:g.76726440T>C	(Likely) benign	1 lab	d6d1f2a1ab
5:110082014 SLC25A46 C>T	5	110082014	110082014	C	T	SLC25A46	c.429C>T	NM_138773.4	NP_620128.1:p.(Val143=)	NC_000005.9:g.110082014C>T	(Likely) benign	1 lab	d6d4c2becd
7:128496730 FLNC T>A	7	128496730	128496730	T	A	FLNC	c.7384+26T>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496730T>A	(Likely) benign	1 lab	d6d796ee92
12:88514010 CEP290 C>T	12	88514010	88514010	C	T	CEP290	c.1403G>A	NM_025114.4	NP_079390.3:p.(Cys468Tyr)	NC_000012.11:g.88514010C>T	VUS	1 lab	d6dfd71c05
1:116269620 CASQ2 G>A	1	116269620	116269620	G	A	CASQ2	c.730C>T	NM_001232.4	NP_001223.2:p.(His244Tyr)	NC_000001.10:g.116269620G>A	(Likely) benign	1 lab	d6e15e0321
12:32797237 FGD4 G>T	12	32797237	32797237	G	T	FGD4	c.*3770G>T	NM_139241.3	NP_640334.2:p.?	NC_000012.11:g.32797237G>T	(Likely) benign	1 lab	d6e35e379a
1:237586493 RYR2 T>C	1	237586493	237586493	T	C	RYR2	c.950T>C	NM_001035.3	NP_001026.2:p.(Met317Thr)	NC_000001.10:g.237586493T>C	VUS	1 lab	d6eb0ed0b7
12:115118955 TBX3 T>C	12	115118955	115118955	T	C	TBX3	c.390-4A>G	NM_016569.4	NP_057653.3:p.?	NC_000012.11:g.115118955T>C	(Likely) benign	1 lab	d6ee962212
11:125875834 CDON C>T	11	125875834	125875834	C	T	CDON	c.1671G>A	NM_001243597.2	NP_001230526.1:p.(Lys557=)	NC_000011.9:g.125875834C>T	(Likely) benign	1 lab	d6f150c2cd
8:17126397 VPS37A T>A	8	17126397	17126397	T	A	VPS37A	c.348T>A	NM_152415.3	NP_689628.2:p.(Ile116=)	NC_000008.10:g.17126397T>A	(Likely) benign	1 lab	d6f3baf74d
11:117258136 CEP164 C>T	11	117258136	117258136	C	T	CEP164	c.1934+8C>T	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117258136C>T	(Likely) benign	1 lab	d6f63e9ea4
2:44102325 ABCG8 T>C	2	44102325	44102325	T	C	ABCG8	c.1529T>C	NM_022437.3	NP_071882.1:p.(Ile510Thr)	NC_000002.11:g.44102325T>C	(Likely) pathogenic	1 lab	d6f69ea3a2
2:44050001 ABCG5 G>A	2	44050001	44050001	G	A	ABCG5	c.1398C>T	NM_022436.3	NP_071881.1:p.(Ala466=)	NC_000002.11:g.44050001G>A	(Likely) benign	1 lab	d6fdc180fe
2:179632508 TTN C>T	2	179632508	179632508	C	T	TTN	c.9449G>A	NM_001267550.2	NP_001254479.2:p.(Arg3150Gln)	NC_000002.11:g.179632508C>T	VUS	1 lab	d733857476
10:28900750 WAC TC>T	10	28900750	28900754	TC	T	WAC	c.1205del	NM_100264.3	NP_567822.1:p.(Pro402GlnfsTer9)	NC_000010.10:g.28900754del	(Likely) pathogenic	1 lab	d708c751aa
9:137697190 COL5A1 G>A	9	137697190	137697190	G	A	COL5A1	c.3258+130G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137697190G>A	(Likely) benign	1 lab	d710da05c3
15:45445691 DUOX1 AAT>A	15	45445691	45445693	AAT	A	DUOX1	c.3524+15_3524+16del	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45445692_45445693del	(Likely) benign	1 lab	d71220950d
16:1004542 LMF1 G>A	16	1004542	1004542	G	A	LMF1	c.318C>T	NM_022773.4	NP_073610.2:p.(Val106=)	NC_000016.9:g.1004542G>A	(Likely) benign	1 lab	d713a3caa4
9:79867181 VPS13A G>A	9	79867181	79867181	G	A	VPS13A	c.2201G>A	NM_033305.3	NP_150648.2:p.(Ser734Asn)	NC_000009.11:g.79867181G>A	(Likely) benign	1 lab	d71aceddc0
15:40648396 PHGR1 T>C	15	40648396	40648396	T	C	PHGR1	c.141T>C	NM_001145643.2	NP_001139115.1:p.(Pro47=)	NC_000015.9:g.40648396T>C	(Likely) benign	1 lab	d71b2102f6
11:76919761 MYO7A C>T	11	76919761	76919761	C	T	MYO7A	c.5964C>T	NM_000260.4	NP_000251.3:p.(Thr1988=)	NC_000011.9:g.76919761C>T	(Likely) benign	1 lab	d721559432
1:156838432 NTRK1 C>T	1	156838432	156838432	C	T	NTRK1	c.710C>T	NM_002529.4	NP_002520.2:p.(Thr237Met)	NC_000001.10:g.156838432C>T	(Likely) benign	1 lab	d72201e8dc
10:73079067 SLC29A3 A>G	10	73079067	73079067	A	G	SLC29A3	c.-655A>G	NM_001363518.2	NP_001350447.1:p.?	NC_000010.10:g.73079067A>G	(Likely) pathogenic	1 lab	d726fb5e1c
5:138269475 CTNNA1 CCT>C	5	138269475	138269477	CCT	C	CTNNA1	c.2434-15_2434-14del	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138269476_138269477del	VUS	1 lab	d728bc84c4
6:39847076 DAAM2 A>C	6	39847076	39847076	A	C	DAAM2	c.1668A>C	NM_015345.4	NP_056160.2:p.(Pro556=)	NC_000006.11:g.39847076A>C	(Likely) benign	1 lab	d72e03c517
10:88476064 LDB3 G>GT	10	88476064	88476072	G	GT	LDB3	c.1247-12dup	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88476072dup	(Likely) benign	1 lab	d7343c47e4
22:42221508 CCDC134 G>A	22	42221508	42221508	G	A	CCDC134	c.565-194G>A	NM_024821.5	NP_079097.1:p.?	NC_000022.10:g.42221508G>A	(Likely) benign	1 lab	d736efcd4a
9:107555493 ABCA1 G>A	9	107555493	107555493	G	A	ABCA1	c.5595C>T	NM_005502.4	NP_005493.2:p.(Leu1865=)	NC_000009.11:g.107555493G>A	(Likely) benign	1 lab	d73b02b720
2:21266770 APOB C>T	2	21266770	21266770	C	T	APOB	c.48G>A	NM_000384.3	NP_000375.3:p.(Ala16=)	NC_000002.11:g.21266770C>T	(Likely) benign	1 lab	d740045321
3:44497127 MISSING C>Alt too long to show for this DUP	3	44497127	44674065	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.44497129_44674065dup	VUS	1 lab	d7404605e1
2:44100971 ABCG8 C>A	2	44100971	44100971	C	A	ABCG8	c.1257C>A	NM_022437.3	NP_071882.1:p.(Ile419=)	NC_000002.11:g.44100971C>A	(Likely) benign	1 lab	d7422e6329
12:33030903 PKP2 G>C	12	33030903	33030903	G	C	PKP2	c.911C>G	NM_004572.4	NP_004563.2:p.(Ala304Gly)	NC_000012.11:g.33030903G>C	VUS	1 lab	d742d40021
4:190878600 FRG1 TGAAGCAGGGGACATAGAA>T	4	190878600	190878619	TGAAGCAGGGGACATAGAA	T	FRG1	c.482_499del	NM_004477.3	NP_004468.1:p.(Glu161_Glu166del)	NC_000004.11:g.190878602_190878619del	(Likely) benign	1 lab	d748bb93aa
2:189862426 COL3A1 G>T	2	189862426	189862426	G	T	COL3A1	c.1870G>T	NM_000090.4	NP_000081.2:p.(Gly624Trp)	NC_000002.11:g.189862426G>T	(Likely) pathogenic	1 lab	d74ae3ece7
9:107568560 ABCA1 C>T	9	107568560	107568560	C	T	ABCA1	c.4426G>A	NM_005502.4	NP_005493.2:p.(Val1476Met)	NC_000009.11:g.107568560C>T	(Likely) benign	1 lab	d74bb922dd
1:218536585 TGFB2 A>G	1	218536585	218536585	A	G	TGFB2	c.346+16196A>G	NM_003238.6	NP_003229.1:p.?	NC_000001.10:g.218536585A>G	(Likely) benign	1 lab	d751d99f8c
3:38753848 SCN10A A>G	3	38753848	38753848	A	G	SCN10A	c.3893T>C	NM_006514.4	NP_006505.4:p.(Met1298Thr)	NC_000003.11:g.38753848A>G	(Likely) benign	1 lab	d75953f1a6
6:73830264 KCNQ5 C>T	6	73830264	73830264	C	T	KCNQ5	c.1184C>T	NM_001160133.2	NP_001153605.1:p.(Pro395Leu)	NC_000006.11:g.73830264C>T	VUS	1 lab	d759ad9918
9:137664385 COL5A1 G>A	9	137664385	137664385	G	A	COL5A1	c.2287-251G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664385G>A	(Likely) benign	1 lab	d75a60593b
5:11385274 CTNND2 CGCG>C	5	11385274	11385298	CGCG	C	CTNND2	c.677_679del	NM_001332.4	NP_001323.1:p.(Pro226del)	NC_000005.9:g.11385296_11385298del	(Likely) benign	1 lab	d75ae088d6
2:179481215 TTN T>G	2	179481215	179481215	T	G	TTN	c.48303A>C	NM_001267550.2	NP_001254479.2:p.(Thr16101=)	NC_000002.11:g.179481215T>G	(Likely) benign	1 lab	d75b41abd3
3:57846558 SLMAP G>C	3	57846558	57846558	G	C	SLMAP	c.820G>C	NM_001304420.3	NP_001291349.1:p.(Glu274Gln)	NC_000003.11:g.57846558G>C	VUS	1 lab	d75db95fdc
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844595	A	ATTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-3_9406-2insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844594_100844595insTTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	d75ec0f00d
9:107551247 ABCA1 A>C	9	107551247	107551247	A	C	ABCA1	c.5928-399T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107551247A>C	(Likely) benign	1 lab	d760dde214
16:84050803 SLC38A8 G>A	16	84050803	84050803	G	A	SLC38A8	c.895C>T	NM_001080442.3	NP_001073911.1:p.(Arg299Trp)	NC_000016.9:g.84050803G>A	VUS	1 lab	d761a80f06
1:63067566 ANGPTL3 T>C	1	63067566	63067566	T	C	ANGPTL3	c.835+13T>C	NM_014495.4	NP_055310.1:p.?	NC_000001.10:g.63067566T>C	(Likely) benign	1 lab	d765e06660
12:125294751 SCARB1 A>G	12	125294751	125294751	A	G	SCARB1	c.811T>C	NM_001367981.1	NP_001354910.1:p.(Ser271Pro)	NC_000012.11:g.125294751A>G	VUS	1 lab	d766badb01
16:31195511 FUS T>TG	16	31195511	31195512	T	TG	FUS	c.336-19_336-18insG	NM_004960.4	NP_004951.1:p.?	NC_000016.9:g.31195511_31195512insG	(Likely) benign	1 lab	d769598b83
17:33428258 RAD51D C>T	17	33428258	33428258	C	T	RAD51D	c.865G>A	NM_002878.4	NP_002869.3:p.(Gly289Ser)	NC_000017.10:g.33428258C>T	VUS	1 lab	d769c73125
10:92677576 ANKRD1 T>C	10	92677576	92677576	T	C	ANKRD1	c.465A>G	NM_014391.3	NP_055206.2:p.(Thr155=)	NC_000010.10:g.92677576T>C	(Likely) benign	1 lab	d770375f0d
18:163322 MISSING Ref too long to show for this DEL>G	18	163322	7285450	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.163323_7285450del	(Likely) pathogenic	1 lab	d773934514
15:45428712 DUOX1 C>T	15	45428712	45428712	C	T	DUOX1	c.926-15C>T	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45428712C>T	(Likely) benign	1 lab	d775722765
8:100733273 VPS13B C>T	8	100733273	100733273	C	T	VPS13B	c.7123C>T	NM_017890.5	NP_060360.3:p.(Gln2375Ter)	NC_000008.10:g.100733273C>T	(Likely) pathogenic	1 lab	d775f06dbb
2:179454756 TTN C>T	2	179454756	179454756	C	T	TTN	c.61696G>A	NM_001267550.2	NP_001254479.2:p.(Val20566Ile)	NC_000002.11:g.179454756C>T	VUS	1 lab	d77a706c57
15:26789076 GABRB3 C>Alt too long to show for this DUP	15	26789076	26796094	C	Alt too long to show for this DUP	GABRB3	c.1081-2812_*3863dup	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26789078_26796094dup	VUS	1 lab	d77aaa7fca
2:201262176 MISSING C>Alt too long to show for this DUP	2	201262176	201472478	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.201262179_201472478dup	VUS	1 lab	d7857f85dd
2:179633427 TTN T>G	2	179633427	179633427	T	G	TTN	c.9136A>C	NM_001267550.2	NP_001254479.2:p.(Thr3046Pro)	NC_000002.11:g.179633427T>G	VUS	1 lab	d785f96013
9:34993451 DNAJB5 C>A	9	34993451	34993451	C	A	DNAJB5	c.427+10C>A	NM_001135005.3	NP_001128477.1:p.?	NC_000009.11:g.34993451C>A	(Likely) benign	1 lab	d78e2b2ace
7:94052544 COL1A2 A>G	7	94052544	94052544	A	G	COL1A2	c.2565+114A>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94052544A>G	(Likely) benign	1 lab	d78e7674b2
2:29432695 ALK C>G	2	29432695	29432695	C	G	ALK	c.3793G>C	NM_004304.5	NP_004295.2:p.(Val1265Leu)	NC_000002.11:g.29432695C>G	VUS	1 lab	d790296fc7
15:48787772 FBN1 G>A	15	48787772	48787772	G	A	FBN1	c.2433C>T	NM_000138.5	NP_000129.3:p.(Cys811=)	NC_000015.9:g.48787772G>A	(Likely) benign	1 lab	d7973ae72c
11:58892935 FAM111B A>G	11	58892935	58892935	A	G	FAM111B	c.1365A>G	NM_198947.4	NP_945185.1:p.(Thr455=)	NC_000011.9:g.58892935A>G	(Likely) benign	1 lab	d79ffe25a5
3:30652292 TGFBR2 G>C	3	30652292	30652292	G	C	TGFBR2	c.94+3823G>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30652292G>C	(Likely) benign	1 lab	d7a3bd8581
6:137193320 PEX7 C>CT	6	137193320	137193331	C	CT	PEX7	c.748-5dup	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193331dup	(Likely) benign	1 lab	d7a6038ed2
15:44877879 SPG11 T>C	15	44877879	44877879	T	C	SPG11	c.5076A>G	NM_025137.4	NP_079413.3:p.(Val1692=)	NC_000015.9:g.44877879T>C	(Likely) benign	1 lab	d7a7c4545e
11:65306911 LTBP3 C>T	11	65306911	65306911	C	T	LTBP3	c.3648G>A	NM_001130144.3	NP_001123616.1:p.(Glu1216=)	NC_000011.9:g.65306911C>T	(Likely) benign	1 lab	d7a94e0d16
10:55826543 PCDH15 C>T	10	55826543	55826543	C	T	PCDH15	c.2209G>A	NM_001142771.2	NP_001136243.1:p.(Ala737Thr)	NC_000010.10:g.55826543C>T	VUS	1 lab	d7aac8e15a
9:10407803 MISSING Ref too long to show for this DEL>A	9	10407803	13049945	Ref too long to show for this DEL	A	MISSING				NC_000009.11:g.10407804_13049945del	(Likely) pathogenic	1 lab	d7ab3aad44
5:110079482 SLC25A46 A>G	5	110079482	110079482	A	G	SLC25A46	c.378A>G	NM_138773.4	NP_620128.1:p.(Gln126=)	NC_000005.9:g.110079482A>G	(Likely) benign	1 lab	d7adf5c0d4
19:45411962 APOE C>G	19	45411962	45411962	C	G	APOE	c.487C>G	NM_001302688.2	NP_001289617.1:p.(Arg163Gly)	NC_000019.9:g.45411962C>G	VUS	1 lab	d7ae875fbd
14:23887586 MYH7 C>G	14	23887586	23887586	C	G	MYH7	c.4002G>C	NM_000257.4	NP_000248.2:p.(Gln1334His)	NC_000014.8:g.23887586C>G	VUS	1 lab	d7b7e943e8
3:158315970 MLF1 A>G	3	158315970	158315970	A	G	MLF1	c.351A>G	NM_001195432.4	NP_001182361.2:p.(Ser117=)	NC_000003.11:g.158315970A>G	(Likely) benign	1 lab	d7bb9b45a6
16:919995 LMF1 A>G	16	919995	919995	A	G	LMF1	c.905T>C	NM_001352018.2	NP_001338947.1:p.(Met302Thr)	NC_000016.9:g.919995A>G	VUS	1 lab	d7bccf1e31
1:197396680 CRB1 T>C	1	197396680	197396680	T	C	CRB1	c.2018T>C	NM_001257965.2	NP_001244894.1:p.(Phe673Ser)	NC_000001.10:g.197396680T>C	VUS	1 lab	d7c2de329f
6:66042295 EYS C>T	6	66042295	66042295	C	T	EYS	c.1782G>A	NM_001142801.2	NP_001136273.1:p.(Thr594=)	NC_000006.11:g.66042295C>T	(Likely) benign	1 lab	d7c363026f
14:23249175 SLC7A7 C>T	14	23249175	23249175	C	T	SLC7A7	c.585G>A	NM_001126106.4	NP_001119578.1:p.(Leu195=)	NC_000014.8:g.23249175C>T	(Likely) benign	1 lab	d7c62d9ce3
10:71129105 HK1 C>T	10	71129105	71129105	C	T	HK1	c.655+13C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71129105C>T	(Likely) benign	1 lab	d7cf8c12a7
X:9652229 TBL1X G>A	X	9652229	9652229	G	A	TBL1X	c.357+1G>A	NM_005647.4	NP_005638.1:p.?	NC_000023.10:g.9652229G>A	(Likely) pathogenic	1 lab	d7d08748be
7:151846141 KMT2C A>G	7	151846141	151846141	A	G	KMT2C	c.12871T>C	NM_170606.3	NP_733751.2:p.(Cys4291Arg)	NC_000007.13:g.151846141A>G	VUS	1 lab	d7d18af08c
8:22052444 BMP1 G>C	8	22052444	22052444	G	C	BMP1	c.1639+12G>C	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22052444G>C	(Likely) benign	1 lab	d7d6c1621c
2:179485208 TTN A>C	2	179485208	179485208	A	C	TTN	c.46040T>G	NM_001267550.2	NP_001254479.2:p.(Val15347Gly)	NC_000002.11:g.179485208A>C	VUS	1 lab	d7d80631cc
3:49690620 BSN C>T	3	49690620	49690620	C	T	BSN	c.3631C>T	NM_003458.4	NP_003449.2:p.(Pro1211Ser)	NC_000003.11:g.49690620C>T	(Likely) benign	1 lab	d7dd7ccef6
6:157405998 ARID1B AC>A	6	157405998	157406000	AC	A	ARID1B	c.2491del	NM_001371656.1	NP_001358585.1:p.(Gln831SerfsTer34)	NC_000006.11:g.157406000del	(Likely) pathogenic	1 lab	d7de4e5854
19:11216081 LDLR T>C	19	11216081	11216081	T	C	LDLR	c.499T>C	NM_000527.5	NP_000518.1:p.(Cys167Arg)	NC_000019.9:g.11216081T>C	(Likely) pathogenic	1 lab	d7e253bf89
2:179481593 TTN C>T	2	179481593	179481593	C	T	TTN	c.48023G>A	NM_001267550.2	NP_001254479.2:p.(Arg16008Gln)	NC_000002.11:g.179481593C>T	VUS	1 lab	d7e5a3230d
2:179597147 TTN G>A	2	179597147	179597147	G	A	TTN	c.16621+20C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179597147G>A	(Likely) benign	1 lab	d7e665902a
9:107556793 ABCA1 T>TAAAAA	9	107556793	107556811	T	TAAAAA	ABCA1	c.5383-7_5383-3dup	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556807_107556811dup	(Likely) benign	1 lab	d7e8089c43
7:151478286 PRKAG2 G>A	7	151478286	151478286	G	A	PRKAG2	c.418C>T	NM_016203.4	NP_057287.2:p.(Pro140Ser)	NC_000007.13:g.151478286G>A	VUS	1 lab	d7eb3a980c
6:79711632 PHIP C>T	6	79711632	79711632	C	T	PHIP	c.1863G>A	NM_017934.7	NP_060404.4:p.(Met621Ile)	NC_000006.11:g.79711632C>T	VUS	1 lab	d7ec2be377
11:76796018 CAPN5 AC>A	11	76796018	76796023	AC	A	CAPN5	c.91del	NM_004055.5	NP_004046.2:p.(Leu31SerfsTer132)	NC_000011.9:g.76796023del	(Likely) benign	1 lab	d7ed06f99b
15:80800482 ARNT2 T>TTC	15	80800482	80800493	T	TTC	ARNT2	c.623-5_623-4dup	NM_014862.4	NP_055677.3:p.?	NC_000015.9:g.80800492_80800493dup	(Likely) benign	1 lab	d7ee7d1fa0
10:28903605 WAC A>C	10	28903605	28903605	A	C	WAC	c.1412A>C	NM_100264.3	NP_567822.1:p.(Gln471Pro)	NC_000010.10:g.28903605A>C	(Likely) benign	1 lab	d7f4a836c6
19:11230672 LDLR A>G	19	11230672	11230672	A	G	LDLR	c.1846-96A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11230672A>G	(Likely) benign	1 lab	d7f7f32146
14:23898212 MYH7 G>C	14	23898212	23898212	G	C	MYH7	c.1359C>G	NM_000257.4	NP_000248.2:p.(Arg453=)	NC_000014.8:g.23898212G>C	(Likely) benign	1 lab	d7fbcc551b
1:145386505 MISSING Ref too long to show for this DEL>G	1	145386505	145748067	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.145386506_145748067del	(Likely) pathogenic	1 lab	d93845814d
12:51097971 DIP2B A>AT	12	51097971	51097972	A	AT	DIP2B	c.2375dup	NM_173602.3	NP_775873.2:p.(Arg793ProfsTer12)	NC_000012.11:g.51097972dup	VUS	1 lab	d80d3c7dcc
16:2134467 TSC2 AGGCCCGGTCACAGTCAGGGACCCT>A	16	2134467	2134493	AGGCCCGGTCACAGTCAGGGACCCT	A	TSC2	c.4247_4270del	NM_000548.5	NP_000539.2:p.(Ala1416_Leu1423del)	NC_000016.9:g.2134470_2134493del	VUS	1 lab	d80e512745
7:150648879 KCNH2 G>A	7	150648879	150648879	G	A	KCNH2	c.1602C>T	NM_000238.4	NP_000229.1:p.(Arg534=)	NC_000007.13:g.150648879G>A	(Likely) benign	1 lab	d80e9d11ed
2:219677163 CYP27A1 G>T	2	219677163	219677163	G	T	CYP27A1	c.646+19G>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677163G>T	(Likely) benign	1 lab	d81662cb21
12:5154333 KCNA5 C>T	12	5154333	5154333	C	T	KCNA5	c.1020C>T	NM_002234.4	NP_002225.2:p.(Leu340=)	NC_000012.11:g.5154333C>T	(Likely) benign	1 lab	d8177ab4b9
5:127670530 FBN2 T>C	5	127670530	127670530	T	C	FBN2	c.3980A>G	NM_001999.4	NP_001990.2:p.(Asn1327Ser)	NC_000005.9:g.127670530T>C	VUS	1 lab	d81a753aa5
7:128494256 FLNC C>T	7	128494256	128494256	C	T	FLNC	c.6713C>T	NM_001458.5	NP_001449.3:p.(Thr2238Ile)	NC_000007.13:g.128494256C>T	VUS	1 lab	d81b25ad20
1:156085056 LMNA T>G	1	156085056	156085056	T	G	LMNA	c.347T>G	NM_170707.4	NP_733821.1:p.(Leu116Arg)	NC_000001.10:g.156085056T>G	VUS	1 lab	d81c7a457d
11:68675621 IGHMBP2 G>A	11	68675621	68675621	G	A	IGHMBP2	c.265G>A	NM_002180.3	NP_002171.2:p.(Val89Met)	NC_000011.9:g.68675621G>A	VUS	1 lab	d81cdb9a99
1:161276241 MPZ G>T	1	161276241	161276241	G	T	MPZ	c.462C>A	NM_000530.8	NP_000521.2:p.(Tyr154Ter)	NC_000001.10:g.161276241G>T	(Likely) pathogenic	1 lab	d83000d131
19:18772572 MISSING T>Alt too long to show for this DUP	19	18772572	18796498	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.18772573_18796498dup	VUS	1 lab	d8327c5e94
2:179483581 TTN C>A	2	179483581	179483581	C	A	TTN	c.46697-1G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179483581C>A	(Likely) pathogenic	1 lab	d834866364
5:127782617 FBN2 T>A	5	127782617	127782617	T	A	FBN2	c.827-318A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127782617T>A	(Likely) benign	1 lab	d8374d9bf5
16:11645673 LITAF G>A	16	11645673	11645673	G	A	LITAF	c.377+1716C>T	NM_004862.4	NP_004853.2:p.?	NC_000016.9:g.11645673G>A	(Likely) benign	1 lab	d83cca2595
19:11221487 LDLR G>A	19	11221487	11221487	G	A	LDLR	c.1060+40G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11221487G>A	(Likely) benign	1 lab	d83d9c5ccf
1:25893323 LDLRAP1 C>T	1	25893323	25893323	C	T	LDLRAP1	c.783-16C>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893323C>T	(Likely) benign	1 lab	d8407b9e1b
19:11242191 LDLR G>A	19	11242191	11242191	G	A	LDLR	c.*199G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11242191G>A	(Likely) benign	1 lab	d84435ff01
22:51018812 CHKB G>T	22	51018812	51018812	G	T	CHKB	c.711C>A	NM_005198.5	NP_005189.2:p.(Val237=)	NC_000022.10:g.51018812G>T	(Likely) benign	1 lab	d846f8bd0c
X:152625150 MISSING C>Alt too long to show for this DUP	X	152625150	153265945	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152625154_153265945dup	VUS	1 lab	d84a317173
3:132423229 NPHP3 A>C	3	132423229	132423229	A	C	NPHP3	c.1351-14T>G	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132423229A>C	(Likely) benign	1 lab	d84a4167c5
15:76696914 SCAPER C>T	15	76696914	76696914	C	T	SCAPER	c.3436G>A	NM_001353009.2	NP_001339938.1:p.(Ala1146Thr)	NC_000015.9:g.76696914C>T	(Likely) benign	1 lab	d857e3878f
1:10363570 KIF1B A>C	1	10363570	10363570	A	C	KIF1B	c.2327A>C	NM_183416.4	NP_904325.2:p.(Lys776Thr)	NC_000001.10:g.10363570A>C	VUS	1 lab	d8588ac6ec
2:179598332 TTN T>C	2	179598332	179598332	T	C	TTN	c.15775+9A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179598332T>C	(Likely) benign	1 lab	d86389168a
7:153584819 DPP6 G>T	7	153584819	153584819	G	T	DPP6	c.51G>T	NM_001039350.3	NP_001034439.1:p.(Met17Ile)	NC_000007.13:g.153584819G>T	VUS	1 lab	d86faf4f87
X:153766768 MISSING Ref too long to show for this DEL>G	X	153766768	155211168	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.153766772_155211168del	(Likely) pathogenic	1 lab	d86fd547bf
11:47359205 MYBPC3 C>G	11	47359205	47359205	C	G	MYBPC3	c.2413+36G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47359205C>G	(Likely) benign	1 lab	d87011a51f
9:137664696 COL5A1 G>A	9	137664696	137664696	G	A	COL5A1	c.2331+16G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137664696G>A	(Likely) benign	1 lab	d8707f0b2c
X:70468552 ZMYM3 C>A	X	70468552	70468552	C	A	ZMYM3	c.1721G>T	NM_001171162.1	NP_001164633.1:p.(Cys574Phe)	NC_000023.10:g.70468552C>A	VUS	1 lab	d87243fb28
15:58852639 LIPC A>G	15	58852639	58852639	A	G	LIPC	c.1052-424A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58852639A>G	(Likely) benign	1 lab	d874c625a9
17:46020698 PNPO C>T	17	46020698	46020698	C	T	PNPO	c.165C>T	NM_018129.4	NP_060599.1:p.(Ser55=)	NC_000017.10:g.46020698C>T	(Likely) benign	1 lab	d87ba9c0ab
6:98237270 MISSING Ref too long to show for this DEL>C	6	98237270	102719010	Ref too long to show for this DEL	C	MISSING				NC_000006.11:g.98237272_102719010del	(Likely) pathogenic	1 lab	d880e12038
16:69693625 NFAT5 A>T	16	69693625	69693625	A	T	NFAT5	c.915-5A>T	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69693625A>T	(Likely) benign	1 lab	d88141fe82
2:203379681 BMPR2 A>C	2	203379681	203379681	A	C	BMPR2	c.600A>C	NM_001204.7	NP_001195.2:p.(Leu200=)	NC_000002.11:g.203379681A>C	(Likely) benign	1 lab	d8833176d5
2:202074217 CASP10 T>C	2	202074217	202074217	T	C	CASP10	c.1347T>C	NM_032977.4	NP_116759.2:p.(Phe449=)	NC_000002.11:g.202074217T>C	(Likely) benign	1 lab	d886b0c99b
11:2466441 KCNQ1 T>C	11	2466441	2466441	T	C	KCNQ1	c.113T>C	NM_000218.3	NP_000209.2:p.(Leu38Pro)	NC_000011.9:g.2466441T>C	VUS	1 lab	d88a7505e9
6:116720622 DSE G>A	6	116720622	116720622	G	A	DSE	c.209G>A	NM_013352.4	NP_037484.1:p.(Arg70His)	NC_000006.11:g.116720622G>A	(Likely) benign	1 lab	d88f3373cb
1:10355763 KIF1B C>T	1	10355763	10355763	C	T	KIF1B	c.1578C>T	NM_015074.3	NP_055889.2:p.(Ser526=)	NC_000001.10:g.10355763C>T	(Likely) benign	1 lab	d894f48738
16:88494830 ZNF469 G>A	16	88494830	88494830	G	A	ZNF469	c.952G>A	NM_001367624.2	NP_001354553.1:p.(Val318Met)	NC_000016.9:g.88494830G>A	(Likely) benign	1 lab	d89aa1c608
14:38950452 MISSING C>Alt too long to show for this DUP	14	38950452	39667111	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.38950454_39667111dup	VUS	1 lab	d89e89b45d
18:34229285 FHOD3 G>A	18	34229285	34229285	G	A	FHOD3	c.1197-8753G>A	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34229285G>A	(Likely) benign	1 lab	d8b1457d55
20:56227514 PMEPA1 T>C	20	56227514	56227514	T	C	PMEPA1	c.459A>G	NM_020182.5	NP_064567.2:p.(Ser153=)	NC_000020.10:g.56227514T>C	(Likely) benign	1 lab	d8b1cc0661
7:107671311 LAMB4 G>A	7	107671311	107671311	G	A	LAMB4	c.4932C>T	NM_007356.3	NP_031382.2:p.(His1644=)	NC_000007.13:g.107671311G>A	(Likely) benign	1 lab	d8b9eaa55b
3:7431945 GRM7 Ref too long to show for this DEL>T	3	7431945	7450223	Ref too long to show for this DEL	T	GRM7	c.1034-24764_1034-6487del	NM_000844.4	NP_000835.1:p.?	NC_000003.11:g.7431946_7450223del	VUS	1 lab	d8bba5a16b
11:47361250 MYBPC3 G>C	11	47361250	47361250	G	C	MYBPC3	c.2019C>G	NM_000256.3	NP_000247.2:p.(Ile673Met)	NC_000011.9:g.47361250G>C	VUS	1 lab	d8bc658383
10:129237405 DOCK1 C>A	10	129237405	129237405	C	A	DOCK1	c.5175C>A	NM_001290223.2	NP_001277152.2:p.(Ser1725Arg)	NC_000010.10:g.129237405C>A	VUS	1 lab	d8beeaac9f
19:5927107 RANBP3 A>Alt too long to show for this DUP	19	5927107	5945660	A	Alt too long to show for this DUP	RANBP3	c.283-3813_813+871dup	NM_007322.3	NP_015561.1:p.?	NC_000019.9:g.5927109_5945660dup	VUS	1 lab	d8c0f43d33
15:85411677 ALPK3 G>A	15	85411677	85411677	G	A	ALPK3	c.5108G>A	NM_020778.5	NP_065829.4:p.(Gly1703Asp)	NC_000015.9:g.85411677G>A	VUS	1 lab	d8c2810ae8
14:21871262 CHD8 G>A	14	21871262	21871262	G	A	CHD8	c.3628C>T	NM_001170629.2	NP_001164100.1:p.(Arg1210Trp)	NC_000014.8:g.21871262G>A	(Likely) pathogenic	1 lab	d8c2bd949f
17:74536668 PRCD T>C	17	74536668	74536668	T	C	PRCD	c.143+13T>C	NM_001077620.3	NP_001071088.1:p.?	NC_000017.10:g.74536668T>C	(Likely) benign	1 lab	d8cc19af05
22:32015742 PISD G>A	22	32015742	32015742	G	A	PISD	c.984C>T	NM_014338.4	NP_055153.1:p.(Gly328=)	NC_000022.10:g.32015742G>A	(Likely) benign	1 lab	d8cc91c807
X:16958453 MISSING T>Alt too long to show for this DUP	X	16958453	17328321	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.16958454_17328321dup	VUS	1 lab	d8ce29e17c
16:49671104 ZNF423 C>T	16	49671104	49671104	C	T	ZNF423	c.1779G>A	NM_001271620.2	NP_001258549.1:p.(Leu593=)	NC_000016.9:g.49671104C>T	(Likely) benign	1 lab	d8d04c80a2
10:13322991 PHYH A>G	10	13322991	13322991	A	G	PHYH	c.648T>C	NM_001037537.2	NP_001032626.1:p.(Asn216=)	NC_000010.10:g.13322991A>G	(Likely) benign	1 lab	d8d0ad781f
4:55136800 PDGFRA G>C	4	55136800	55136800	G	C	PDGFRA	c.1122G>C	NM_006206.6	NP_006197.1:p.(Arg374Ser)	NC_000004.11:g.55136800G>C	(Likely) benign	1 lab	d8d5e1ec2b
15:93362262 MISSING Ref too long to show for this DEL>T	15	93362262	94086717	Ref too long to show for this DEL	T	MISSING				NC_000015.9:g.93362265_94086717del	(Likely) pathogenic	1 lab	d8d8e52f2d
9:135771793 TSC1 G>A	9	135771793	135771793	G	A	TSC1	c.3324C>T	NM_000368.5	NP_000359.1:p.(Gly1108=)	NC_000009.11:g.135771793G>A	(Likely) benign	1 lab	d8d908e3e0
6:112454086 LAMA4 G>A	6	112454086	112454086	G	A	LAMA4	c.3682C>T	NM_002290.5	NP_002281.3:p.(Arg1228Cys)	NC_000006.11:g.112454086G>A	VUS	1 lab	d8dcd4eb43
2:44051044 ABCG5 G>A	2	44051044	44051044	G	A	ABCG5	c.1324+8C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051044G>A	(Likely) benign	1 lab	d8e268486e
5:138163188 CTNNA1 A>G	5	138163188	138163188	A	G	CTNNA1	c.859-16A>G	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138163188A>G	(Likely) benign	1 lab	d8e2d1d048
11:62473077 BSCL2 C>T	11	62473077	62473077	C	T	BSCL2	c.100G>A	NM_001122955.4	NP_001116427.1:p.(Ala34Thr)	NC_000011.9:g.62473077C>T	VUS	1 lab	d8e454cf9d
2:179603001 TTN G>A	2	179603001	179603001	G	A	TTN	c.14179C>T	NM_001267550.2	NP_001254479.2:p.(Pro4727Ser)	NC_000002.11:g.179603001G>A	VUS	1 lab	d8e9d311cf
12:50500090 GPD1 A>G	12	50500090	50500090	A	G	GPD1	c.380A>G	NM_005276.4	NP_005267.2:p.(Asn127Ser)	NC_000012.11:g.50500090A>G	(Likely) benign	1 lab	d8eaad1f12
7:91624927 AKAP9 G>A	7	91624927	91624927	G	A	AKAP9	c.743G>A	NM_005751.5	NP_005742.4:p.(Ser248Asn)	NC_000007.13:g.91624927G>A	VUS	1 lab	da7c3414fb
2:179396750 TTN C>A	2	179396750	179396750	C	A	TTN	c.104592G>T	NM_001267550.2	NP_001254479.2:p.(Pro34864=)	NC_000002.11:g.179396750C>A	(Likely) benign	1 lab	d8ed4b5ce0
19:11240794 LDLR C>T	19	11240794	11240794	C	T	LDLR	c.2547+448C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240794C>T	(Likely) benign	1 lab	d8f3ebf137
1:196712565 CFH CT>C	1	196712565	196712573	CT	C	CFH	c.3134-9del	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196712573del	(Likely) benign	1 lab	d8f58734b3
14:23898972 MYH7 C>T	14	23898972	23898972	C	T	MYH7	c.1138+12G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23898972C>T	(Likely) benign	1 lab	d8f68893bb
17:6381316 PITPNM3 C>T	17	6381316	6381316	C	T	PITPNM3	c.879G>A	NM_031220.4	NP_112497.2:p.(Lys293=)	NC_000017.10:g.6381316C>T	(Likely) benign	1 lab	d8f8276c7d
2:21234712 APOB G>A	2	21234712	21234712	G	A	APOB	c.5028C>T	NM_000384.3	NP_000375.3:p.(Gly1676=)	NC_000002.11:g.21234712G>A	(Likely) benign	1 lab	d8f8e278ae
3:179138722 GNB4 T>TA	3	179138722	179138729	T	TA	GNB4	c.58-8dup	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179138729dup	(Likely) benign	1 lab	d8f98caba8
11:121429355 SORL1 A>G	11	121429355	121429355	A	G	SORL1	c.2719A>G	NM_003105.6	NP_003096.2:p.(Met907Val)	NC_000011.9:g.121429355A>G	(Likely) benign	1 lab	d901a01382
2:21238142 APOB C>T	2	21238142	21238142	C	T	APOB	c.3509-10G>A	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21238142C>T	(Likely) benign	1 lab	d90501b626
17:27857522 TAOK1 CAA>C	17	27857522	27857525	CAA	C	TAOK1	c.2248_2249del	NM_020791.4	NP_065842.1:p.(Lys750GlufsTer2)	NC_000017.10:g.27857524_27857525del	(Likely) pathogenic	1 lab	d9074648dc
2:179486606 TTN C>T	2	179486606	179486606	C	T	TTN	c.45043G>A	NM_001267550.2	NP_001254479.2:p.(Val15015Ile)	NC_000002.11:g.179486606C>T	VUS	1 lab	d90db5dc75
19:48342689 CRX G>A	19	48342689	48342689	G	A	CRX	c.365G>A	NM_000554.6	NP_000545.1:p.(Gly122Asp)	NC_000019.9:g.48342689G>A	(Likely) benign	1 lab	d90ebec741
12:21294582 SLCO1B1 A>C	12	21294582	21294582	A	C	SLCO1B1	c.74A>C	NM_006446.5	NP_006437.3:p.(Asn25Thr)	NC_000012.11:g.21294582A>C	VUS	1 lab	d91248def7
14:76427592 TGFB3 G>T	14	76427592	76427592	G	T	TGFB3	c.927-173C>A	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76427592G>T	(Likely) benign	1 lab	d9134a7205
14:88450737 GALC C>T	14	88450737	88450737	C	T	GALC	c.504+1G>A	NM_001201402.1	NP_001188331.1:p.?	NC_000014.8:g.88450737C>T	(Likely) pathogenic	1 lab	d92189991a
12:21358965 SLCO1B1 A>G	12	21358965	21358965	A	G	SLCO1B1	c.1495A>G	NM_006446.5	NP_006437.3:p.(Ile499Val)	NC_000012.11:g.21358965A>G	(Likely) benign	1 lab	d9238dd2b0
1:145354760 MISSING Ref too long to show for this DEL>C	1	145354760	145833054	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.145354761_145833054del	(Likely) pathogenic	1 lab	da977e6c86
3:8787434 CAV3 G>A	3	8787434	8787434	G	A	CAV3	c.337G>A	NM_033337.3	NP_203123.1:p.(Glu113Lys)	NC_000003.11:g.8787434G>A	VUS	1 lab	d9273e335d
1:23232469 EPHB2 T>G	1	23232469	23232469	T	G	EPHB2	c.1766-11T>G	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23232469T>G	(Likely) benign	1 lab	d9286a6fe2
8:144298455 GPIHBP1 C>A	8	144298455	144298455	C	A	GPIHBP1	c.*1063C>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298455C>A	VUS	1 lab	d93cb93db3
2:44079860 ABCG8 C>A	2	44079860	44079860	C	A	ABCG8	c.817C>A	NM_022437.3	NP_071882.1:p.(Arg273Ser)	NC_000002.11:g.44079860C>A	VUS	1 lab	d94017e086
3:53844189 CACNA1D T>G	3	53844189	53844189	T	G	CACNA1D	c.6116T>G	NM_000720.4	NP_000711.1:p.(Leu2039Arg)	NC_000003.11:g.53844189T>G	VUS	1 lab	d9419d19a8
1:3328535 PRDM16 A>G	1	3328535	3328535	A	G	PRDM16	c.1774A>G	NM_022114.4	NP_071397.3:p.(Lys592Glu)	NC_000001.10:g.3328535A>G	VUS	1 lab	d954a99b0e
17:58234015 CA4 C>T	17	58234015	58234015	C	T	CA4	c.207C>T	NM_000717.5	NP_000708.1:p.(Arg69=)	NC_000017.10:g.58234015C>T	(Likely) benign	1 lab	d95e7e67b1
17:74477582 RHBDF2 C>T	17	74477582	74477582	C	T	RHBDF2	c.25G>A	NM_024599.5	NP_078875.4:p.(Gly9Arg)	NC_000017.10:g.74477582C>T	(Likely) benign	1 lab	d96247a8f7
21:34924672 SON C>T	21	34924672	34924672	C	T	SON	c.3135C>T	NM_138927.4	NP_620305.3:p.(Tyr1045=)	NC_000021.8:g.34924672C>T	(Likely) benign	1 lab	d9634dd2aa
1:156104960 LMNA C>G	1	156104960	156104960	C	G	LMNA	c.811-18C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156104960C>G	(Likely) benign	1 lab	d963bf17b7
7:154595645 DPP6 C>T	7	154595645	154595645	C	T	DPP6	c.1479C>T	NM_130797.4	NP_570629.2:p.(Tyr493=)	NC_000007.13:g.154595645C>T	(Likely) benign	1 lab	d97052b6a0
15:48762855 FBN1 CCA>C	15	48762855	48762857	CCA	C	FBN1	c.4433_4434del	NM_000138.5	NP_000129.3:p.(Leu1478ArgfsTer12)	NC_000015.9:g.48762856_48762857del	(Likely) pathogenic	1 lab	d9735b9bed
7:91700120 AKAP9 C>CA	7	91700120	91700139	C	CA	AKAP9	c.6508-80dup	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91700139dup	(Likely) benign	1 lab	d975c15d0e
19:55263898 KIR2DL3 G>C	19	55263898	55263898	G	C	KIR2DL3	c.953G>C	NM_015868.3	NP_056952.2:p.(Arg318Pro)	NC_000019.9:g.55263898G>C	(Likely) benign	1 lab	d9784f6e45
11:66472865 SPTBN2 C>T	11	66472865	66472865	C	T	SPTBN2	c.1882G>A	NM_006946.4	NP_008877.2:p.(Glu628Lys)	NC_000011.9:g.66472865C>T	VUS	1 lab	d9789f765f
X:151958560 MISSING T>Alt too long to show for this DUP	X	151958560	152129317	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.151958561_152129317dup	VUS	1 lab	da7e9075e3
16:67973987 LCAT G>C	16	67973987	67973987	G	C	LCAT	c.1143C>G	NM_000229.2	NP_000220.1:p.(Gly381=)	NC_000016.9:g.67973987G>C	(Likely) benign	1 lab	d97906eab7
4:114278542 ANK2 A>G	4	114278542	114278542	A	G	ANK2	c.8768A>G	NM_001148.6	NP_001139.3:p.(Gln2923Arg)	NC_000004.11:g.114278542A>G	(Likely) benign	1 lab	d979cf9366
2:179605220 TTN T>C	2	179605220	179605220	T	C	TTN	c.12740A>G	NM_001267550.2	NP_001254479.2:p.(Glu4247Gly)	NC_000002.11:g.179605220T>C	VUS	1 lab	d97f1b8ba6
11:31815082 PAX6 G>A	11	31815082	31815082	G	A	PAX6	c.929C>T	NM_000280.5	NP_000271.1:p.(Thr310Ile)	NC_000011.9:g.31815082G>A	(Likely) benign	1 lab	d9866f147f
11:47358061 MYBPC3 A>C	11	47358061	47358061	A	C	MYBPC3	c.2603-499T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358061A>C	(Likely) benign	1 lab	d9896845d3
19:11200178 LDLR G>T	19	11200178	11200178	G	T	LDLR	c.-47G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11200178G>T	(Likely) benign	1 lab	d98bfbd0c9
9:107589580 ABCA1 A>T	9	107589580	107589580	A	T	ABCA1	c.2116-130T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107589580A>T	(Likely) benign	1 lab	d98eefbdfa
7:128477877 FLNC A>G	7	128477877	128477877	A	G	FLNC	c.969+68A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477877A>G	(Likely) benign	1 lab	d98ff40b1f
19:54634779 PRPF31 G>A	19	54634779	54634779	G	A	PRPF31	c.1416G>A	NM_015629.4	NP_056444.3:p.(Val472=)	NC_000019.9:g.54634779G>A	(Likely) benign	1 lab	d9967396b3
22:41924620 ACO2 G>A	22	41924620	41924620	G	A	ACO2	c.*3G>A	NM_001098.3	NP_001089.1:p.?	NC_000022.10:g.41924620G>A	(Likely) benign	1 lab	d997002d04
12:124402165 DNAH10 C>T	12	124402165	124402165	C	T	DNAH10	c.10683C>T	NM_207437.3	NP_997320.2:p.(Ser3561=)	NC_000012.11:g.124402165C>T	(Likely) benign	1 lab	d99d5dae85
10:62018508 ANK3 Ref too long to show for this DEL>A	10	62018508	62109343	Ref too long to show for this DEL	A	ANK3	c.114+39841_798+3108del	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.62018510_62109343del	(Likely) pathogenic	1 lab	d99f7045fb
2:179534153 TTN C>T	2	179534153	179534153	C	T	TTN	c.35492G>A	NM_001267550.2	NP_001254479.2:p.(Ser11831Asn)	NC_000002.11:g.179534153C>T	(Likely) benign	1 lab	d9a2b6f440
X:115576375 SLC6A14 Ref too long to show for this DEL>A	X	115576375	115578634	Ref too long to show for this DEL	A	SLC6A14	c.789+158_930+587del	NM_007231.5	NP_009162.1:p.?	NC_000023.10:g.115576376_115578634del	VUS	1 lab	d9bce06351
16:1003928 LMF1 TTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC>T	16	1003928	1004060	TTCCTACACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAAACCAGCC	T	LMF1	c.-52+319_-52+428del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1003951_1004060del	(Likely) benign	1 lab	d9a5e3ac35
16:57006829 CETP T>A	16	57006829	57006829	T	A	CETP	c.751-414T>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57006829T>A	(Likely) benign	1 lab	d9a8b13a6b
10:91005540 LIPA A>G	10	91005540	91005540	A	G	LIPA	c.122T>C	NM_000235.4	NP_000226.2:p.(Ile41Thr)	NC_000010.10:g.91005540A>G	(Likely) pathogenic	1 lab	d9abf791eb
20:61449574 COL9A3 G>A	20	61449574	61449574	G	A	COL9A3	c.148-296G>A	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61449574G>A	(Likely) benign	1 lab	d9ac46f054
11:2608931 KCNQ1 C>A	11	2608931	2608931	C	A	KCNQ1	c.1251+9C>A	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2608931C>A	(Likely) benign	1 lab	d9b296222e
3:193354986 OPA1 A>G	3	193354986	193354986	A	G	OPA1	c.951A>G	NM_130837.3	NP_570850.2:p.(Lys317=)	NC_000003.11:g.193354986A>G	(Likely) benign	1 lab	d9b2e92c79
2:21250178 APOB AT>A	2	21250178	21250201	AT	A	APOB	c.2068-343del	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21250201del	(Likely) benign	1 lab	d9b4098421
5:133948363 SAR1B A>G	5	133948363	133948363	A	G	SAR1B	c.244+18T>C	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133948363A>G	(Likely) benign	1 lab	d9b893f903
11:47436467 SLC39A13 G>A	11	47436467	47436467	G	A	SLC39A13	c.919+7G>A	NM_001128225.3	NP_001121697.2:p.?	NC_000011.9:g.47436467G>A	(Likely) benign	1 lab	d9be4edd0d
10:12129577 DHTKD1 G>C	10	12129577	12129577	G	C	DHTKD1	c.566G>C	NM_018706.7	NP_061176.4:p.(Arg189Pro)	NC_000010.10:g.12129577G>C	VUS	1 lab	d9c9263400
16:67976674 LCAT G>C	16	67976674	67976674	G	C	LCAT	c.428-5C>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976674G>C	(Likely) benign	1 lab	d9c9681f50
4:166418753 CPE A>G	4	166418753	166418753	A	G	CPE	c.1422A>G	NM_001873.4	NP_001864.1:p.(Leu474=)	NC_000004.11:g.166418753A>G	(Likely) benign	1 lab	d9caeb381f
17:48267378 COL1A1 C>G	17	48267378	48267378	C	G	COL1A1	c.2543G>C	NM_000088.4	NP_000079.2:p.(Gly848Ala)	NC_000017.10:g.48267378C>G	(Likely) pathogenic	1 lab	d9cdbe4b62
8:38928937 ADAM9 G>A	8	38928937	38928937	G	A	ADAM9	c.1697+15G>A	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38928937G>A	(Likely) benign	1 lab	d9ce1f436e
1:40778273 COL9A2 G>A	1	40778273	40778273	G	A	COL9A2	c.312C>T	NM_001852.4	NP_001843.1:p.(Pro104=)	NC_000001.10:g.40778273G>A	(Likely) benign	1 lab	d9cef03a92
17:48276966 COL1A1 G>A	17	48276966	48276966	G	A	COL1A1	c.299-15C>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48276966G>A	(Likely) benign	1 lab	d9d219afb2
14:102476742 DYNC1H1 A>G	14	102476742	102476742	A	G	DYNC1H1	c.6351A>G	NM_001376.5	NP_001367.2:p.(Glu2117=)	NC_000014.8:g.102476742A>G	(Likely) benign	1 lab	d9d487b646
15:63335016 TPM1 C>T	15	63335016	63335016	C	T	TPM1	c.-13C>T	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63335016C>T	(Likely) benign	1 lab	d9d6540d65
22:50657219 TUBGCP6 G>A	22	50657219	50657219	G	A	TUBGCP6	c.4734C>T	NM_020461.4	NP_065194.3:p.(Ser1578=)	NC_000022.10:g.50657219G>A	(Likely) benign	1 lab	d9d7515738
3:38664217 SCN5A T>C	3	38664217	38664217	T	C	SCN5A	c.393-237A>G	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38664217T>C	(Likely) benign	1 lab	d9d8e90589
19:50832284 KCNC3 T>TGCTTGCTGGCCCCCTGGCGCCC	19	50832284	50832308	T	TGCTTGCTGGCCCCCTGGCGCCC	KCNC3	c.34_55dup	NM_004977.3	NP_004968.2:p.(Gln19ArgfsTer89)	NC_000019.9:g.50832287_50832308dup	VUS	1 lab	d9e052ecc6
3:75787218 ZNF717 T>A	3	75787218	75787218	T	A	ZNF717	c.1556A>T	NM_001128223.3	NP_001121695.1:p.(Lys519Met)	NC_000003.11:g.75787218T>A	(Likely) benign	1 lab	d9ea611a5c
X:47379495 MISSING C>Alt too long to show for this DUP	X	47379495	47580733	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.47379496_47580733dup	VUS	1 lab	dc64dad372
13:94906359 GPC6 Ref too long to show for this DEL>G	13	94906359	94915898	Ref too long to show for this DEL	G	GPC6	c.878-32243_878-22705del	NM_005708.5	NP_005699.1:p.?	NC_000013.10:g.94906360_94915898del	VUS	1 lab	d9f078dbc3
7:81334825 HGF C>T	7	81334825	81334825	C	T	HGF	c.1891G>A	NM_000601.6	NP_000592.3:p.(Val631Met)	NC_000007.13:g.81334825C>T	(Likely) benign	1 lab	d9f17983d1
1:152186417 HRNR C>G	1	152186417	152186417	C	G	HRNR	c.7688G>C	NM_001009931.3	NP_001009931.1:p.(Ser2563Thr)	NC_000001.10:g.152186417C>G	(Likely) benign	1 lab	d9f79ba7d8
X:70443799 GJB1 T>A	X	70443799	70443799	T	A	GJB1	c.242T>A	NM_000166.6	NP_000157.1:p.(Leu81His)	NC_000023.10:g.70443799T>A	VUS	1 lab	d9fa1aaba3
8:59409169 CYP7A1 A>G	8	59409169	59409169	A	G	CYP7A1	c.902T>C	NM_000780.4	NP_000771.2:p.(Met301Thr)	NC_000008.10:g.59409169A>G	VUS	1 lab	d9fa76546d
19:55665201 MISSING T>Alt too long to show for this DUP	19	55665201	55693999	T	Alt too long to show for this DUP	MISSING				NC_000019.9:g.55665203_55693999dup	VUS	1 lab	d9fb52a5e7
3:167507171 SERPINI1 G>A	3	167507171	167507171	G	A	SERPINI1	c.250+5G>A	NM_005025.5	NP_005016.1:p.?	NC_000003.11:g.167507171G>A	VUS	1 lab	d9ff662316
1:3342716 PRDM16 T>A	1	3342716	3342716	T	A	PRDM16	c.3211T>A	NM_022114.4	NP_071397.3:p.(Ser1071Thr)	NC_000001.10:g.3342716T>A	VUS	1 lab	da02f1e8e3
10:61868656 ANK3 G>C	10	61868656	61868656	G	C	ANK3	c.3105C>G	NM_020987.5	NP_066267.2:p.(Pro1035=)	NC_000010.10:g.61868656G>C	(Likely) benign	1 lab	da032e70a5
2:44041615 ABCG5 C>T	2	44041615	44041615	C	T	ABCG5	c.1762+1G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44041615C>T	(Likely) pathogenic	1 lab	da092333a0
19:11226871 LDLR C>A	19	11226871	11226871	C	A	LDLR	c.1688C>A	NM_000527.5	NP_000518.1:p.(Pro563His)	NC_000019.9:g.11226871C>A	(Likely) pathogenic	1 lab	da0a506214
1:94490499 ABCA4 T>A	1	94490499	94490499	T	A	ABCA4	c.4634+11A>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94490499T>A	(Likely) benign	1 lab	da0ab7f5b6
1:237038007 MTR T>A	1	237038007	237038007	T	A	MTR	c.2474-19T>A	NM_000254.3	NP_000245.2:p.?	NC_000001.10:g.237038007T>A	(Likely) benign	1 lab	da0ec7db29
18:29078268 DSG2 C>G	18	29078268	29078268	C	G	DSG2	c.45+9C>G	NM_001943.5	NP_001934.2:p.?	NC_000018.9:g.29078268C>G	(Likely) benign	1 lab	da15aeacfd
11:47371756 MYBPC3 G>C	11	47371756	47371756	G	C	MYBPC3	c.407-93C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371756G>C	(Likely) benign	1 lab	da1a4bbdc2
2:145155864 ZEB2 T>G	2	145155864	145155864	T	G	ZEB2	c.2886+4A>C	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145155864T>G	VUS	1 lab	da1df424b0
8:59404945 CYP7A1 C>A	8	59404945	59404945	C	A	CYP7A1	c.1182G>T	NM_000780.4	NP_000771.2:p.(Met394Ile)	NC_000008.10:g.59404945C>A	(Likely) benign	1 lab	da2161c547
4:338197 ZNF141 T>TGA	4	338197	338198	T	TGA	ZNF141	c.204_205insGA	NM_003441.4	NP_003432.1:p.(Lys69GlufsTer4)	NC_000004.11:g.338197_338198insGA	(Likely) benign	1 lab	da24747e55
5:149919817 NDST1 G>A	5	149919817	149919817	G	A	NDST1	c.1740G>A	NM_001543.5	NP_001534.1:p.(Pro580=)	NC_000005.9:g.149919817G>A	(Likely) benign	1 lab	da27666fec
16:57012170 CETP G>A	16	57012170	57012170	G	A	CETP	c.1146+3G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57012170G>A	(Likely) benign	1 lab	da2a3f7cc1
X:100662449 GLA C>CGAGAGAGAGA	X	100662449	100662469	C	CGAGAGAGAGA	GLA	c.194+239_194+248dup	NM_000169.3	NP_000160.1:p.?	NC_000023.10:g.100662460_100662469dup	(Likely) benign	1 lab	da3104353d
1:161332091 SDHC CT>C	1	161332091	161332105	CT	C	SDHC	c.406-14del	NM_003001.5	NP_002992.1:p.?	NC_000001.10:g.161332105del	(Likely) benign	1 lab	da314a24bb
1:1148100 TNFRSF4 G>A	1	1148100	1148100	G	A	TNFRSF4	c.371-16C>T	NM_003327.4	NP_003318.1:p.?	NC_000001.10:g.1148100G>A	(Likely) benign	1 lab	da338b9509
2:44104705 ABCG8 G>A	2	44104705	44104705	G	A	ABCG8	c.1762G>A	NM_022437.3	NP_071882.1:p.(Ala588Thr)	NC_000002.11:g.44104705G>A	(Likely) benign	1 lab	da361fe1bb
19:42489324 ATP1A3 C>T	19	42489324	42489324	C	T	ATP1A3	c.739G>A	NM_152296.5	NP_689509.1:p.(Val247Met)	NC_000019.9:g.42489324C>T	VUS	1 lab	da36462bcc
8:19811840 LPL G>A	8	19811840	19811840	G	A	LPL	c.751G>A	NM_000237.3	NP_000228.1:p.(Val251Met)	NC_000008.10:g.19811840G>A	(Likely) benign	1 lab	da373cd199
18:34205537 FHOD3 C>G	18	34205537	34205537	C	G	FHOD3	c.1021C>G	NM_025135.5	NP_079411.2:p.(Arg341Gly)	NC_000018.9:g.34205537C>G	VUS	1 lab	da3ee4b2e9
11:58891984 FAM111B T>C	11	58891984	58891984	T	C	FAM111B	c.414T>C	NM_198947.4	NP_945185.1:p.(Asp138=)	NC_000011.9:g.58891984T>C	(Likely) benign	1 lab	da42efd42a
2:21233452 APOB C>T	2	21233452	21233452	C	T	APOB	c.6288G>A	NM_000384.3	NP_000375.3:p.(Gln2096=)	NC_000002.11:g.21233452C>T	(Likely) benign	1 lab	da48a52691
8:59404293 CYP7A1 G>A	8	59404293	59404293	G	A	CYP7A1	c.1256C>T	NM_000780.4	NP_000771.2:p.(Thr419Ile)	NC_000008.10:g.59404293G>A	(Likely) benign	1 lab	da4a1dceeb
7:128491325 FLNC G>A	7	128491325	128491325	G	A	FLNC	c.5579G>A	NM_001458.5	NP_001449.3:p.(Arg1860His)	NC_000007.13:g.128491325G>A	VUS	1 lab	da4ac21645
2:96969079 SNRNP200 T>A	2	96969079	96969079	T	A	SNRNP200	c.210-11A>T	NM_014014.5	NP_054733.2:p.?	NC_000002.11:g.96969079T>A	(Likely) benign	1 lab	da4efff474
1:55518382 PCSK9 C>T	1	55518382	55518382	C	T	PCSK9	c.717C>T	NM_174936.4	NP_777596.2:p.(Ala239=)	NC_000001.10:g.55518382C>T	(Likely) benign	1 lab	da5aa03ed6
6:32010192 TNXB C>CT	6	32010192	32010193	C	CT	TNXB	c.12204+39dup	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32010193dup	(Likely) benign	1 lab	daf7a0f96a
6:43010858 CUL7 A>G	6	43010858	43010858	A	G	CUL7	c.3416T>C	NM_014780.5	NP_055595.2:p.(Ile1139Thr)	NC_000006.11:g.43010858A>G	(Likely) benign	1 lab	da5b2d89bf
22:18585833 MISSING Ref too long to show for this DEL>T	22	18585833	18597174	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.18585835_18597174del	VUS	1 lab	da5d798bb4
22:50901135 SBF1 C>T	22	50901135	50901135	C	T	SBF1	c.1980G>A	NM_002972.4	NP_002963.2:p.(Pro660=)	NC_000022.10:g.50901135C>T	(Likely) benign	1 lab	da5e41e32b
16:77323210 ADAMTS18 C>T	16	77323210	77323210	C	T	ADAMTS18	c.3501G>A	NM_199355.4	NP_955387.1:p.(Pro1167=)	NC_000016.9:g.77323210C>T	(Likely) benign	1 lab	da6134ab7a
2:56102061 EFEMP1 G>GA	2	56102061	56102071	G	GA	EFEMP1	c.1000+19dup	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56102071dup	(Likely) benign	1 lab	da63512b53
1:1747318 GNB1 T>C	1	1747318	1747318	T	C	GNB1	c.97-17A>G	NM_002074.5	NP_002065.1:p.?	NC_000001.10:g.1747318T>C	(Likely) benign	1 lab	da66ec299b
2:44079930 ABCG8 C>T	2	44079930	44079930	C	T	ABCG8	c.887C>T	NM_022437.3	NP_071882.1:p.(Ala296Val)	NC_000002.11:g.44079930C>T	(Likely) benign	1 lab	da676fa617
8:12777692 MISSING Ref too long to show for this DEL>A	8	12777692	12872240	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.12777694_12872240del	VUS	1 lab	da69a8e306
11:116661090 APOA5 A>C	11	116661090	116661090	A	C	APOA5	c.855T>G	NM_052968.5	NP_443200.2:p.(Leu285=)	NC_000011.9:g.116661090A>C	(Likely) benign	1 lab	da6c8acce0
X:122593037 GRIA3 Ref too long to show for this DEL>A	X	122593037	122603950	Ref too long to show for this DEL	A	GRIA3	c.2077-5678_2324+4987del	NM_007325.5	NP_015564.5:p.?	NC_000023.10:g.122593038_122603950del	VUS	1 lab	da7366cee3
2:189858169 COL3A1 G>A	2	189858169	189858169	G	A	COL3A1	c.1133G>A	NM_000090.4	NP_000081.2:p.(Gly378Asp)	NC_000002.11:g.189858169G>A	(Likely) pathogenic	1 lab	da748709cd
19:504393 MISSING Ref too long to show for this DEL>A	19	504393	897514	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.504394_897514del	(Likely) pathogenic	1 lab	da74e9ba2e
2:128699589 SAP130 T>C	2	128699589	128699589	T	C	SAP130	c.3243A>G	NM_001145928.2	NP_001139400.1:p.(Glu1081=)	NC_000002.11:g.128699589T>C	(Likely) benign	1 lab	da75f25d91
2:179654152 TTN T>C	2	179654152	179654152	T	C	TTN	c.2011A>G	NM_001267550.2	NP_001254479.2:p.(Thr671Ala)	NC_000002.11:g.179654152T>C	VUS	1 lab	da784f2985
11:11306198 GALNT18 T>Alt too long to show for this DUP	11	11306198	11544590	T	Alt too long to show for this DUP	GALNT18	c.236-74107_1677+8377dup	NM_198516.3	NP_940918.2:p.?	NC_000011.9:g.11306199_11544590dup	VUS	1 lab	da7effcc2f
14:75513244 MLH3 T>A	14	75513244	75513244	T	A	MLH3	c.3115A>T	NM_001040108.2	NP_001035197.1:p.(Thr1039Ser)	NC_000014.8:g.75513244T>A	VUS	1 lab	da808b778c
3:123385991 MYLK C>T	3	123385991	123385991	C	T	MYLK	c.3696G>A	NM_053025.4	NP_444253.3:p.(Pro1232=)	NC_000003.11:g.123385991C>T	(Likely) benign	1 lab	da82f68537
7:112101909 IFRD1 T>TA	7	112101909	112101910	T	TA	IFRD1	c.568-12_568-11insA	NM_001007245.3	NP_001007246.1:p.?	NC_000007.13:g.112101909_112101910insA	(Likely) benign	1 lab	da8771646b
5:127638467 FBN2 G>A	5	127638467	127638467	G	A	FBN2	c.5917+198C>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127638467G>A	(Likely) benign	1 lab	da89df05b0
1:215359099 MISSING Ref too long to show for this DEL>C	1	215359099	220764545	Ref too long to show for this DEL	C	MISSING				NC_000001.10:g.215359102_220764545del	(Likely) pathogenic	1 lab	da8ab683e3
2:73676972 ALMS1 C>T	2	73676972	73676972	C	T	ALMS1	c.3321C>T	NM_015120.4	NP_055935.4:p.(Phe1107=)	NC_000002.11:g.73676972C>T	(Likely) benign	1 lab	da8c2acfa5
7:151478533 PRKAG2 C>T	7	151478533	151478533	C	T	PRKAG2	c.187-16G>A	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151478533C>T	(Likely) benign	1 lab	da8dba32af
15:73615151 HCN4 G>A	15	73615151	73615151	G	A	HCN4	c.3283C>T	NM_005477.3	NP_005468.1:p.(Gln1095Ter)	NC_000015.9:g.73615151G>A	VUS	1 lab	da908c9ca3
12:125284678 SCARB1 T>C	12	125284678	125284678	T	C	SCARB1	c.1120A>G	NM_001367981.1	NP_001354910.1:p.(Ile374Val)	NC_000012.11:g.125284678T>C	VUS	1 lab	da91d67394
19:7051393 MBD3L2 A>G	19	7051393	7051393	A	G	MBD3L2	c.387A>G	NM_144614.4	NP_653215.2:p.(Arg129=)	NC_000019.9:g.7051393A>G	(Likely) benign	1 lab	da949185d1
10:64573312 EGR2 T>G	10	64573312	64573312	T	G	EGR2	c.1086A>C	NM_000399.5	NP_000390.2:p.(Arg362=)	NC_000010.10:g.64573312T>G	(Likely) benign	1 lab	da9bfa5201
8:134251375 NDRG1 G>A	8	134251375	134251375	G	A	NDRG1	c.944-13C>T	NM_001135242.2	NP_001128714.1:p.?	NC_000008.10:g.134251375G>A	(Likely) benign	1 lab	da9cf9e7ec
X:99662015 PCDH19 C>G	X	99662015	99662015	C	G	PCDH19	c.1581G>C	NM_001184880.2	NP_001171809.1:p.(Lys527Asn)	NC_000023.10:g.99662015C>G	VUS	1 lab	da9dd21d02
5:149504330 PDGFRB A>G	5	149504330	149504330	A	G	PDGFRB	c.1872T>C	NM_002609.4	NP_002600.1:p.(His624=)	NC_000005.9:g.149504330A>G	(Likely) benign	1 lab	daa17dacf5
2:51113043 MISSING Ref too long to show for this DEL>G	2	51113043	51328796	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.51113044_51328796del	(Likely) pathogenic	1 lab	daa46b7188
2:15536395 NBAS T>C	2	15536395	15536395	T	C	NBAS	c.3134+142A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15536395T>C	(Likely) benign	1 lab	daa90617eb
1:3348510 PRDM16 C>G	1	3348510	3348510	C	G	PRDM16	c.3522-20C>G	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3348510C>G	(Likely) benign	1 lab	daae9334a7
19:50784914 MYH14 C>T	19	50784914	50784914	C	T	MYH14	c.4354C>T	NM_001145809.2	NP_001139281.1:p.(Arg1452Trp)	NC_000019.9:g.50784914C>T	VUS	1 lab	dab5e35bca
1:237753968 RYR2 G>T	1	237753968	237753968	G	T	RYR2	c.3836G>T	NM_001035.3	NP_001026.2:p.(Ser1279Ile)	NC_000001.10:g.237753968G>T	VUS	1 lab	dac293e3cf
2:179597777 TTN G>T	2	179597777	179597777	G	T	TTN	c.16126C>A	NM_001267550.2	NP_001254479.2:p.(Leu5376Met)	NC_000002.11:g.179597777G>T	VUS	1 lab	dac466441d
12:124352603 DNAH10 C>T	12	124352603	124352603	C	T	DNAH10	c.7102C>T	NM_207437.3	NP_997320.2:p.(Arg2368Cys)	NC_000012.11:g.124352603C>T	VUS	1 lab	dacded3e91
9:107555573 ABCA1 G>A	9	107555573	107555573	G	A	ABCA1	c.5515C>T	NM_005502.4	NP_005493.2:p.(Arg1839Cys)	NC_000009.11:g.107555573G>A	VUS	1 lab	dacdfe6188
7:150654548 KCNH2 G>C	7	150654548	150654548	G	C	KCNH2	c.959C>G	NM_000238.4	NP_000229.1:p.(Ser320Trp)	NC_000007.13:g.150654548G>C	VUS	1 lab	dace6314b1
2:179580288 TTN C>T	2	179580288	179580288	C	T	TTN	c.22121G>A	NM_133378.4	NP_596869.4:p.(Gly7374Glu)	NC_000002.11:g.179580288C>T	VUS	1 lab	dad194ada5
9:107602631 ABCA1 T>C	9	107602631	107602631	T	C	ABCA1	c.983A>G	NM_005502.4	NP_005493.2:p.(Asn328Ser)	NC_000009.11:g.107602631T>C	VUS	1 lab	dad2da6ab7
9:107558675 ABCA1 T>C	9	107558675	107558675	T	C	ABCA1	c.5152A>G	NM_005502.4	NP_005493.2:p.(Ile1718Val)	NC_000009.11:g.107558675T>C	(Likely) benign	1 lab	dad6c18f48
20:57429306 GNAS C>G	20	57429306	57429306	C	G	GNAS	c.799C>G	NM_001077490.3	NP_001070958.1:p.(Gln267Glu)	NC_000020.10:g.57429306C>G	(Likely) benign	1 lab	dad7b1680e
2:73675947 ALMS1 T>C	2	73675947	73675947	T	C	ALMS1	c.2296T>C	NM_015120.4	NP_055935.4:p.(Ser766Pro)	NC_000002.11:g.73675947T>C	(Likely) benign	1 lab	dadb11330b
11:116660768 APOA5 G>A	11	116660768	116660768	G	A	APOA5	c.*76C>T	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660768G>A	(Likely) benign	1 lab	dadd363f89
9:107556768 ABCA1 G>A	9	107556768	107556768	G	A	ABCA1	c.5406C>T	NM_005502.4	NP_005493.2:p.(Ile1802=)	NC_000009.11:g.107556768G>A	(Likely) benign	1 lab	dade557d59
5:148421182 SH3TC2 T>C	5	148421182	148421182	T	C	SH3TC2	c.530-2A>G	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148421182T>C	(Likely) pathogenic	1 lab	dadf314bb5
17:19702892 ULK2 C>CAAAA	17	19702892	19702910	C	CAAAA	ULK2	c.1442-8_1442-5dup	NM_014683.4	NP_055498.3:p.?	NC_000017.10:g.19702907_19702910dup	(Likely) benign	1 lab	dae0e37f77
6:75898555 COL12A1 T>C	6	75898555	75898555	T	C	COL12A1	c.824-304A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75898555T>C	(Likely) benign	1 lab	dae580479e
13:31036828 HMGB1 GCA>G	13	31036828	31036830	GCA	G	HMGB1	c.316_317del	NM_002128.7	NP_002119.1:p.(Cys106LeufsTer2)	NC_000013.10:g.31036829_31036830del	(Likely) pathogenic	1 lab	dae8a58ba9
19:8176640 FBN3 C>T	19	8176640	8176640	C	T	FBN3	c.3976G>A	NM_032447.5	NP_115823.3:p.(Val1326Ile)	NC_000019.9:g.8176640C>T	(Likely) benign	1 lab	dae931d101
16:2133711 TSC2 T>A	16	2133711	2133711	T	A	TSC2	c.3899T>A	NM_000548.5	NP_000539.2:p.(Met1300Lys)	NC_000016.9:g.2133711T>A	VUS	1 lab	daef09e79c
2:179659189 TTN A>G	2	179659189	179659189	A	G	TTN	c.1335T>C	NM_001267550.2	NP_001254479.2:p.(Ala445=)	NC_000002.11:g.179659189A>G	(Likely) benign	1 lab	daefffffe4
18:40688172 MISSING T>Alt too long to show for this DUP	18	40688172	40858766	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.40688173_40858766dup	VUS	1 lab	daf5f5dfcd
9:434791 DOCK8 A>G	9	434791	434791	A	G	DOCK8	c.4895A>G	NM_203447.4	NP_982272.2:p.(Lys1632Arg)	NC_000009.11:g.434791A>G	VUS	1 lab	dafc0b68c7
3:141328918 RASA2 T>G	3	141328918	141328918	T	G	RASA2	c.2531+10T>G	NM_001303246.3	NP_001290175.1:p.?	NC_000003.11:g.141328918T>G	(Likely) benign	1 lab	dafceb151e
22:29876874 NEFH A>T	22	29876874	29876874	A	T	NEFH	c.623A>T	NM_021076.4	NP_066554.2:p.(Glu208Val)	NC_000022.10:g.29876874A>T	(Likely) benign	1 lab	dafec1be04
2:189850803 COL3A1 C>CA	2	189850803	189850811	C	CA	COL3A1	c.447+307dup	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189850811dup	(Likely) benign	1 lab	db046a8346
21:38126537 HLCS ACGC>A	21	38126537	38126541	ACGC	A	HLCS	c.*7_*9del	NM_001242784.3	NP_001229713.1:p.?	NC_000021.8:g.38126539_38126541del	(Likely) benign	1 lab	db04bff13f
16:88793068 PIEZO1 T>TCAGCGGGGC	16	88793068	88793087	T	TCAGCGGGGC	PIEZO1	c.3700-26_3700-18dup	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793079_88793087dup	(Likely) benign	1 lab	db0ba3a0c5
3:38601827 SCN5A G>A	3	38601827	38601827	G	A	SCN5A	c.4056C>T	NM_198056.3	NP_932173.1:p.(Gly1352=)	NC_000003.11:g.38601827G>A	(Likely) benign	1 lab	db0ca0ce93
14:102484902 DYNC1H1 G>A	14	102484902	102484902	G	A	DYNC1H1	c.8292G>A	NM_001376.5	NP_001367.2:p.(Thr2764=)	NC_000014.8:g.102484902G>A	(Likely) benign	1 lab	db0d17f12b
1:10397133 KIF1B G>A	1	10397133	10397133	G	A	KIF1B	c.3131G>A	NM_001365951.3	NP_001352880.1:p.(Ser1044Asn)	NC_000001.10:g.10397133G>A	VUS	1 lab	db14f17577
1:103387128 COL11A1 C>T	1	103387128	103387128	C	T	COL11A1	c.3691-1G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103387128C>T	(Likely) pathogenic	1 lab	db178b33fa
12:125348234 SCARB1 G>C	12	125348234	125348234	G	C	SCARB1	c.33C>G	NM_001367981.1	NP_001354910.1:p.(Ala11=)	NC_000012.11:g.125348234G>C	(Likely) benign	1 lab	db20d0d9e7
8:19796675 LPL T>TC	8	19796675	19796681	T	TC	LPL				NC_000008.10:g.19796681dup	VUS	1 lab	db211f0f72
1:156096951 LMNA C>G	1	156096951	156096951	C	G	LMNA	c.357-3457C>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096951C>G	VUS	1 lab	db2213e660
2:179410586 TTN G>T	2	179410586	179410586	G	T	TTN	c.95377C>A	NM_001267550.2	NP_001254479.2:p.(Pro31793Thr)	NC_000002.11:g.179410586G>T	VUS	1 lab	db247a4c70
16:16272841 ABCC6 C>G	16	16272841	16272841	C	G	ABCC6	c.2248-19G>C	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16272841C>G	(Likely) benign	1 lab	db2555f00c
1:77965483 MISSING C>Alt too long to show for this DUP	1	77965483	78030194	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.77965484_78030194dup	VUS	1 lab	db2616feda
2:48952813 LHCGR A>G	2	48952813	48952813	A	G	LHCGR	c.383+2T>C	NM_000233.4	NP_000224.2:p.?	NC_000002.11:g.48952813A>G	(Likely) pathogenic	1 lab	db2679f440
1:55524339 PCSK9 CGTGTGTGTGTGTGT>C	1	55524339	55524391	CGTGTGTGTGTGTGT	C	PCSK9	c.1503+58_1503+71del	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55524378_55524391del	(Likely) benign	1 lab	db2823a225
1:25870253 LDLRAP1 T>TG	1	25870253	25870260	T	TG	LDLRAP1	c.71dup	NM_015627.3	NP_056442.2:p.(Gly25ArgfsTer9)	NC_000001.10:g.25870260dup	(Likely) pathogenic	1 lab	db2f8dede8
1:47882800 FOXE3 G>A	1	47882800	47882800	G	A	FOXE3	c.813G>A	NM_012186.3	NP_036318.1:p.(Leu271=)	NC_000001.10:g.47882800G>A	(Likely) benign	1 lab	db3021ce93
16:71007354 HYDIN G>A	16	71007354	71007354	G	A	HYDIN	c.5271C>T	NM_001270974.2	NP_001257903.1:p.(Arg1757=)	NC_000016.9:g.71007354G>A	(Likely) benign	1 lab	db3290bd74
2:44052105 ABCG5 G>A	2	44052105	44052105	G	A	ABCG5	c.827C>T	NM_022436.3	NP_071881.1:p.(Thr276Met)	NC_000002.11:g.44052105G>A	VUS	1 lab	db351c2011
5:127626817 FBN2 T>A	5	127626817	127626817	T	A	FBN2	c.6293-241A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127626817T>A	(Likely) benign	1 lab	db3df1cab7
12:32977060 PKP2 C>T	12	32977060	32977060	C	T	PKP2	c.1725G>A	NM_004572.4	NP_004563.2:p.(Ala575=)	NC_000012.11:g.32977060C>T	(Likely) benign	1 lab	db4509ec4a
8:144997737 PLEC C>T	8	144997737	144997737	C	T	PLEC	c.6771G>A	NM_201380.4	NP_958782.1:p.(Ser2257=)	NC_000008.10:g.144997737C>T	(Likely) benign	1 lab	db46c7fcee
19:11200103 LDLR C>T	19	11200103	11200103	C	T	LDLR				NC_000019.9:g.11200103C>T	VUS	1 lab	db4765e5b3
8:22021059 SFTPC GGT>G	8	22021059	22021072	GGT	G	SFTPC	c.435+12_435+13del	NM_001172357.2	NP_001165828.1:p.?	NC_000008.10:g.22021071_22021072del	(Likely) benign	1 lab	db483728f2
9:107558580 ABCA1 G>C	9	107558580	107558580	G	C	ABCA1	c.5237+10C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107558580G>C	(Likely) benign	1 lab	db491014e1
5:953920 MISSING G>Alt too long to show for this DUP	5	953920	1404383	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.953921_1404383dup	VUS	1 lab	db4c279434
X:32841964 DMD T>Alt too long to show for this DUP	X	32841964	32848154	T	Alt too long to show for this DUP	DMD	c.265-6649_265-461dup	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32841966_32848154dup	VUS	1 lab	db4cda6029
16:1816964 MAPK8IP3 G>C	16	1816964	1816964	G	C	MAPK8IP3	c.3080G>C	NM_001318852.2	NP_001305781.1:p.(Arg1027Pro)	NC_000016.9:g.1816964G>C	VUS	1 lab	db4e1d80b7
4:16189991 TAPT1 A>T	4	16189991	16189991	A	T	TAPT1	c.613-13T>A	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16189991A>T	(Likely) benign	1 lab	db532e9dc0
12:66594134 IRAK3 Ref too long to show for this DEL>C	12	66594134	66603415	Ref too long to show for this DEL	C	IRAK3	c.134-3356_381+115del	NM_007199.3	NP_009130.2:p.?	NC_000012.11:g.66594135_66603415del	VUS	1 lab	db64118f88
2:39222496 SOS1 A>C	2	39222496	39222496	A	C	SOS1	c.3114T>G	NM_005633.4	NP_005624.2:p.(Pro1038=)	NC_000002.11:g.39222496A>C	(Likely) benign	1 lab	db665905bf
X:55172521 VCF2 G>T	X	55172521	55172521	G	T	VCF2	c.341C>A	NM_001166703.2	NP_001160175.1:p.(Thr114Lys)	NC_000023.10:g.55172521G>T	(Likely) benign	1 lab	db69c36e5f
6:15496848 JARID2 TGGCCCCGCCGAAGGCCCTGGCAAGAA>T	6	15496848	15496881	TGGCCCCGCCGAAGGCCCTGGCAAGAA	T	JARID2	c.1400_1425del	NM_004973.4	NP_004964.2:p.(Ala467GlyfsTer48)	NC_000006.11:g.15496856_15496881del	(Likely) pathogenic	1 lab	db69c8d158
9:100616283 FOXE1 C>T	9	100616283	100616283	C	T	FOXE1	c.87C>T	NM_004473.4	NP_004464.2:p.(Ala29=)	NC_000009.11:g.100616283C>T	(Likely) benign	1 lab	db6bf9418c
1:202574784 SYT2 G>A	1	202574784	202574784	G	A	SYT2	c.117C>T	NM_001136504.1	NP_001129976.1:p.(Ser39=)	NC_000001.10:g.202574784G>A	(Likely) benign	1 lab	db6e78f594
17:79502080 FSCN2 G>A	17	79502080	79502080	G	A	FSCN2	c.829G>A	NM_001077182.3	NP_001070650.1:p.(Val277Ile)	NC_000017.10:g.79502080G>A	(Likely) benign	1 lab	db7aafbe04
15:48902663 FBN1 C>T	15	48902663	48902663	C	T	FBN1	c.346+262G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48902663C>T	(Likely) benign	1 lab	db861440dc
17:79804328 P4HB G>C	17	79804328	79804328	G	C	P4HB	c.1033C>G	NM_000918.4	NP_000909.2:p.(Arg345Gly)	NC_000017.10:g.79804328G>C	(Likely) benign	1 lab	db8afef4e5
2:179432185 TTN-AS1 A>G	2	179432185	179432185	A	G	TTN-AS1	n.2044-15114A>G	NR_038272.1		NC_000002.11:g.179432185A>G	(Likely) benign	1 lab	db8c83f12b
9:139399283 NOTCH1 G>C	9	139399283	139399283	G	C	NOTCH1	c.4860C>G	NM_017617.5	NP_060087.3:p.(Tyr1620Ter)	NC_000009.11:g.139399283G>C	(Likely) pathogenic	1 lab	db8cfe7fb3
6:219049 MISSING Ref too long to show for this DEL>A	6	219049	831526	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.219051_831526del	(Likely) pathogenic	1 lab	db8ea8915c
2:179596173 TTN C>T	2	179596173	179596173	C	T	TTN	c.17320G>A	NM_001267550.2	NP_001254479.2:p.(Asp5774Asn)	NC_000002.11:g.179596173C>T	VUS	1 lab	db92651e65
2:238443207 MLPH A>T	2	238443207	238443207	A	T	MLPH	c.1021A>T	NM_024101.7	NP_077006.1:p.(Ile341Phe)	NC_000002.11:g.238443207A>T	(Likely) benign	1 lab	db92cd83b6
5:90016770 ADGRV1 C>T	5	90016770	90016770	C	T	ADGRV1	c.9642C>T	NM_032119.4	NP_115495.3:p.(Ile3214=)	NC_000005.9:g.90016770C>T	(Likely) benign	1 lab	db936bc448
X:53589177 HUWE1 A>C	X	53589177	53589177	A	C	HUWE1	c.7233T>G	NM_031407.7	NP_113584.3:p.(Asp2411Glu)	NC_000023.10:g.53589177A>C	VUS	1 lab	db939bc9bc
6:32548534 HLA-DRB1 C>T	6	32548534	32548534	C	T	HLA-DRB1	c.752G>A	NM_002124.4	NP_002115.2:p.(Arg251Lys)	NC_000006.11:g.32548534C>T	(Likely) benign	1 lab	db97ced836
6:123581789 TRDN GA>G	6	123581789	123581804	GA	G	TRDN	c.1805-7del	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123581804del	(Likely) benign	1 lab	db987921fd
4:79254554 FRAS1 G>C	4	79254554	79254554	G	C	FRAS1	c.2266G>C	NM_025074.7	NP_079350.5:p.(Gly756Arg)	NC_000004.11:g.79254554G>C	VUS	1 lab	db9b101c39
10:71060621 HK1 C>T	10	71060621	71060621	C	T	HK1	c.27+4C>T	NM_033500.2	NP_277035.2:p.?	NC_000010.10:g.71060621C>T	(Likely) benign	1 lab	db9e58d4da
11:65319624 LTBP3 C>T	11	65319624	65319624	C	T	LTBP3	c.1350G>A	NM_001130144.3	NP_001123616.1:p.(Ala450=)	NC_000011.9:g.65319624C>T	(Likely) benign	1 lab	dba2a15cd2
15:85360700 ALPK3 C>T	15	85360700	85360700	C	T	ALPK3	c.17C>T	NM_020778.5	NP_065829.4:p.(Ala6Val)	NC_000015.9:g.85360700C>T	VUS	1 lab	dbe4f6087e
11:1017786 MUC6 G>A	11	1017786	1017786	G	A	MUC6	c.5015C>T	NM_005961.3	NP_005952.2:p.(Thr1672Met)	NC_000011.9:g.1017786G>A	(Likely) benign	1 lab	dba80bbc3a
18:19378128 MIB1 C>T	18	19378128	19378128	C	T	MIB1	c.1176C>T	NM_020774.4	NP_065825.1:p.(Tyr392=)	NC_000018.9:g.19378128C>T	(Likely) benign	1 lab	dbaf0a970f
13:32912120 BRCA2 GATGAAA>G	13	32912120	32912131	GATGAAA	G	BRCA2	c.3634_3639del	NM_000059.4	NP_000050.3:p.(Asn1212_Glu1213del)	NC_000013.10:g.32912126_32912131del	VUS	1 lab	dbb0903e0e
1:94546792 ABCA4 A>G	1	94546792	94546792	A	G	ABCA4	c.859-518T>C	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94546792A>G	(Likely) benign	1 lab	dbb4f1a7d0
19:11218400 LDLR T>C	19	11218400	11218400	T	C	LDLR	c.940+210T>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11218400T>C	VUS	1 lab	dbb508b2f3
2:105984126 FHL2 C>G	2	105984126	105984126	C	G	FHL2	c.402G>C	NM_001318895.3	NP_001305824.1:p.(Gln134His)	NC_000002.11:g.105984126C>G	VUS	1 lab	dbb6929bbb
1:55525400 PCSK9 G>A	1	55525400	55525400	G	A	PCSK9	c.1681+64G>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55525400G>A	(Likely) benign	1 lab	dbc303cf4a
1:225974590 SRP9 G>T	1	225974590	225974590	G	T	SRP9	c.168G>T	NM_001130440.2	NP_001123912.1:p.(Arg56Ser)	NC_000001.10:g.225974590G>T	(Likely) benign	1 lab	dbd1ce42ee
4:22394175 ADGRA3 T>C	4	22394175	22394175	T	C	ADGRA3	c.2620A>G	NM_145290.4	NP_660333.2:p.(Met874Val)	NC_000004.11:g.22394175T>C	(Likely) benign	1 lab	dbd2dfa1d2
3:178916976 PIK3CA A>G	3	178916976	178916976	A	G	PIK3CA	c.352+11A>G	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178916976A>G	(Likely) benign	1 lab	dbd596e58c
12:21327522 SLCO1B1 G>T	12	21327522	21327522	G	T	SLCO1B1	c.238G>T	NM_006446.5	NP_006437.3:p.(Val80Leu)	NC_000012.11:g.21327522G>T	VUS	1 lab	dbd75dcf6d
19:10265002 DNMT1 G>A	19	10265002	10265002	G	A	DNMT1	c.1986C>T	NM_001130823.3	NP_001124295.1:p.(Asn662=)	NC_000019.9:g.10265002G>A	(Likely) benign	1 lab	dbdcf12359
20:31988100 MISSING C>Alt too long to show for this DUP	20	31988100	32088088	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.31988103_32088088dup	VUS	1 lab	dbdf8af8df
14:93664096 MISSING Ref too long to show for this DEL>C	14	93664096	93687207	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.93664099_93687207del	VUS	1 lab	dbe219c188
15:48704884 FBN1 C>A	15	48704884	48704884	C	A	FBN1	c.8108G>T	NM_000138.5	NP_000129.3:p.(Gly2703Val)	NC_000015.9:g.48704884C>A	VUS	1 lab	dbe7da911c
6:159654823 FNDC1 C>T	6	159654823	159654823	C	T	FNDC1	c.3279C>T	NM_032532.3	NP_115921.2:p.(Ala1093=)	NC_000006.11:g.159654823C>T	(Likely) benign	1 lab	dbf4e742e4
2:73717360 ALMS1 A>G	2	73717360	73717360	A	G	ALMS1	c.8277A>G	NM_015120.4	NP_055935.4:p.(Gln2759=)	NC_000002.11:g.73717360A>G	(Likely) benign	1 lab	dbf72a7fc8
2:175622373 CHRNA1 G>C	2	175622373	175622373	G	C	CHRNA1	c.265C>G	NM_000079.4	NP_000070.1:p.(Pro89Ala)	NC_000002.11:g.175622373G>C	VUS	1 lab	dc02d4762c
6:76728471 IMPG1 T>C	6	76728471	76728471	T	C	IMPG1	c.771A>G	NM_001563.4	NP_001554.2:p.(Pro257=)	NC_000006.11:g.76728471T>C	(Likely) benign	1 lab	dc03e8c954
19:36212136 KMT2B G>C	19	36212136	36212136	G	C	KMT2B	c.1887G>C	NM_014727.3	NP_055542.1:p.(Pro629=)	NC_000019.9:g.36212136G>C	(Likely) benign	1 lab	dc06d450bd
11:47369817 MYBPC3 T>G	11	47369817	47369817	T	G	MYBPC3	c.772+158A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369817T>G	(Likely) benign	1 lab	dc0e9afaf3
7:91641781 AKAP9 CCT>C	7	91641781	91641789	CCT	C	AKAP9	c.3364_3365del	NM_005751.5	NP_005742.4:p.(Leu1122GlyfsTer11)	NC_000007.13:g.91641788_91641789del	VUS	1 lab	dc0f628a30
2:189866982 COL3A1 C>T	2	189866982	189866982	C	T	COL3A1	c.2392-42C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189866982C>T	(Likely) benign	1 lab	dc0f6f0189
15:67461328 MISSING C>Alt too long to show for this DUP	15	67461328	67505042	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.67461331_67505042dup	VUS	1 lab	dc1153ca44
17:36734938 SRCIN1 G>T	17	36734938	36734938	G	T	SRCIN1	c.129C>A	NM_025248.3	NP_079524.2:p.(Arg43=)	NC_000017.10:g.36734938G>T	(Likely) benign	1 lab	dc118c60a5
4:100533722 MTTP C>A	4	100533722	100533722	C	A	MTTP	c.1990-348C>A	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100533722C>A	(Likely) benign	1 lab	dc11bd5344
5:38953623 RICTOR A>Alt too long to show for this DUP	5	38953623	38955794	A	Alt too long to show for this DUP	RICTOR	c.2512_2729dup	NM_152756.5	NP_689969.2:p.(Thr911AsnfsTer5)	NC_000005.9:g.38953624_38955794dup	VUS	1 lab	dc15645e9f
X:70443985 GJB1 T>C	X	70443985	70443985	T	C	GJB1	c.428T>C	NM_000166.6	NP_000157.1:p.(Leu143Pro)	NC_000023.10:g.70443985T>C	(Likely) pathogenic	1 lab	dc16152283
19:11224069 LDLR G>A	19	11224069	11224069	G	A	LDLR	c.1302G>A	NM_000527.5	NP_000518.1:p.(Thr434=)	NC_000019.9:g.11224069G>A	(Likely) benign	1 lab	dc1b5f7096
2:56098015 EFEMP1 C>T	2	56098015	56098015	C	T	EFEMP1	c.1160G>A	NM_001039348.3	NP_001034437.1:p.(Arg387Gln)	NC_000002.11:g.56098015C>T	(Likely) benign	1 lab	dc20b1d565
12:125270773 SCARB1 A>G	12	125270773	125270773	A	G	SCARB1	c.1401+130T>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125270773A>G	(Likely) benign	1 lab	dc25a1445d
1:236898901 ACTN2 T>TGC	1	236898901	236898908	T	TGC	ACTN2	c.698-28_698-27dup	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236898907_236898908dup	(Likely) benign	1 lab	dc274b8b2a
2:21229040 APOB G>A	2	21229040	21229040	G	A	APOB	c.10700C>T	NM_000384.3	NP_000375.3:p.(Thr3567Met)	NC_000002.11:g.21229040G>A	VUS	1 lab	dc297fd150
9:131669425 LRRC8A C>T	9	131669425	131669425	C	T	LRRC8A	c.-8-11C>T	NM_019594.4	NP_062540.2:p.?	NC_000009.11:g.131669425C>T	(Likely) benign	1 lab	dc29f8f64d
11:116702001 APOC3 T>TTTC	11	116702001	116702006	T	TTTC	APOC3	c.179+392_179+394dup	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116702004_116702006dup	(Likely) benign	1 lab	dc2afcfa28
12:133237561 POLE G>A	12	133237561	133237561	G	A	POLE	c.3054C>T	NM_006231.4	NP_006222.2:p.(Tyr1018=)	NC_000012.11:g.133237561G>A	(Likely) benign	1 lab	dc30390927
7:91659250 AKAP9 A>G	7	91659250	91659250	A	G	AKAP9	c.4190A>G	NM_005751.5	NP_005742.4:p.(Gln1397Arg)	NC_000007.13:g.91659250A>G	(Likely) benign	1 lab	dc32011c30
1:63070470 ANGPTL3 T>G	1	63070470	63070470	T	G	ANGPTL3	c.1365T>G	NM_014495.4	NP_055310.1:p.(Asp455Glu)	NC_000001.10:g.63070470T>G	VUS	1 lab	dc342fae66
19:45411884 APOE C>T	19	45411884	45411884	C	T	APOE	c.409C>T	NM_001302688.2	NP_001289617.1:p.(Leu137=)	NC_000019.9:g.45411884C>T	(Likely) benign	1 lab	dc369606d5
16:15833941 MYH11 C>G	16	15833941	15833941	C	G	MYH11	c.2985G>C	NM_001040113.2	NP_001035202.1:p.(Leu995=)	NC_000016.9:g.15833941C>G	(Likely) benign	1 lab	dc36ae03fa
20:32031302 SNTA1 A>G	20	32031302	32031302	A	G	SNTA1	c.125T>C	NM_003098.3	NP_003089.1:p.(Val42Ala)	NC_000020.10:g.32031302A>G	VUS	1 lab	dc38440c69
18:58038919 MC4R G>T	18	58038919	58038919	G	T	MC4R	c.664C>A	NM_005912.3	NP_005903.2:p.(His222Asn)	NC_000018.9:g.58038919G>T	VUS	1 lab	dc438aa4a9
8:68102960 CSPP1 A>G	8	68102960	68102960	A	G	CSPP1	c.2246A>G	NM_001291339.2	NP_001278268.1:p.(Glu749Gly)	NC_000008.10:g.68102960A>G	VUS	1 lab	dc45e5b64a
19:50812948 MYH14 A>T	19	50812948	50812948	A	T	MYH14	c.6012A>T	NM_001145809.2	NP_001139281.1:p.(Leu2004=)	NC_000019.9:g.50812948A>T	(Likely) benign	1 lab	dc481e5128
15:48780299 FBN1 C>T	15	48780299	48780299	C	T	FBN1	c.3337+11G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48780299C>T	(Likely) benign	1 lab	dc49a6ab38
9:103027226 INVS CTT>C	9	103027226	103027242	CTT	C	INVS	c.1571+31_1571+32del	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103027241_103027242del	(Likely) benign	1 lab	dc4a9b86bb
16:88496595 ZNF469 C>T	16	88496595	88496595	C	T	ZNF469	c.2717C>T	NM_001367624.2	NP_001354553.1:p.(Pro906Leu)	NC_000016.9:g.88496595C>T	(Likely) benign	1 lab	dc4c25cd4d
1:40779901 COL9A2 C>G	1	40779901	40779901	C	G	COL9A2	c.225G>C	NM_001852.4	NP_001843.1:p.(Gly75=)	NC_000001.10:g.40779901C>G	(Likely) benign	1 lab	dc50070190
12:8808366 MFAP5 CA>C	12	8808366	8808370	CA	C	MFAP5	c.139+15del	NM_003480.4	NP_003471.1:p.?	NC_000012.11:g.8808370del	(Likely) benign	1 lab	dc50b2a559
19:13135899 NFIX T>C	19	13135899	13135899	T	C	NFIX	c.116T>C	NM_001271043.2	NP_001257972.1:p.(Phe39Ser)	NC_000019.9:g.13135899T>C	(Likely) pathogenic	1 lab	dc5345aa39
2:56103891 EFEMP1 T>TTA	2	56103891	56103906	T	TTA	EFEMP1	c.761-16_761-15dup	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56103905_56103906dup	(Likely) benign	1 lab	dc55b92210
2:177125072 MISSING A>Alt too long to show for this DUP	2	177125072	177259646	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.177125073_177259646dup	VUS	1 lab	dc5a2955ad
12:2676716 CACNA1C C>G	12	2676716	2676716	C	G	CACNA1C	c.1670-19C>G	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2676716C>G	(Likely) benign	1 lab	dc5be23af4
2:179395772 TTN T>C	2	179395772	179395772	T	C	TTN	c.105570A>G	NM_001267550.2	NP_001254479.2:p.(Ser35190=)	NC_000002.11:g.179395772T>C	VUS	1 lab	dc5f96a90c
7:91726202 AKAP9 G>A	7	91726202	91726202	G	A	AKAP9	c.9929G>A	NM_005751.5	NP_005742.4:p.(Arg3310Gln)	NC_000007.13:g.91726202G>A	(Likely) benign	1 lab	dc61a4602e
7:150644586 KCNH2 C>G	7	150644586	150644586	C	G	KCNH2	c.2982G>C	NM_000238.4	NP_000229.1:p.(Val994=)	NC_000007.13:g.150644586C>G	(Likely) benign	1 lab	dc6345693e
15:63356116 TPM1 G>A	15	63356116	63356116	G	A	TPM1	c.773-147G>A	NM_000366.6	NP_000357.3:p.?	NC_000015.9:g.63356116G>A	VUS	1 lab	dc68152e75
12:117977588 KSR2 C>T	12	117977588	117977588	C	T	KSR2	c.1623G>A	NM_173598.6	NP_775869.4:p.(Thr541=)	NC_000012.11:g.117977588C>T	(Likely) benign	1 lab	dc69188b9e
2:21266783 APOB A>G	2	21266783	21266783	A	G	APOB	c.35T>C	NM_000384.3	NP_000375.3:p.(Leu12Pro)	NC_000002.11:g.21266783A>G	(Likely) benign	1 lab	dc6dff395c
3:136062770 STAG1 A>T	3	136062770	136062770	A	T	STAG1	c.3350T>A	NM_005862.3	NP_005853.2:p.(Leu1117His)	NC_000003.11:g.136062770A>T	VUS	1 lab	dc738fe79b
10:91278879 MISSING A>Alt too long to show for this DUP	10	91278879	91410311	A	Alt too long to show for this DUP	MISSING				NC_000010.10:g.91278880_91410311dup	VUS	1 lab	dc7456c569
1:169504082 MISSING G>Alt too long to show for this DUP	1	169504082	169595862	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.169504083_169595862dup	VUS	1 lab	dc7b379218
3:108474490 MISSING T>Alt too long to show for this DUP	3	108474490	108914802	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.108474491_108914802dup	VUS	1 lab	dc80f3158f
1:215824124 USH2A G>T	1	215824124	215824124	G	T	USH2A	c.14153C>A	NM_206933.4	NP_996816.3:p.(Ala4718Glu)	NC_000001.10:g.215824124G>T	VUS	1 lab	dc86ad6acb
19:12757418 MAN2B1 G>C	19	12757418	12757418	G	C	MAN2B1	c.*16C>G	NM_000528.4	NP_000519.2:p.?	NC_000019.9:g.12757418G>C	(Likely) benign	1 lab	dc892d4653
9:139396522 NOTCH1 T>C	9	139396522	139396522	T	C	NOTCH1	c.5403A>G	NM_017617.5	NP_060087.3:p.(Ser1801=)	NC_000009.11:g.139396522T>C	(Likely) benign	1 lab	dc8aa66c6e
14:65544615 MAX G>A	14	65544615	65544615	G	A	MAX	c.295+16C>T	NM_002382.5	NP_002373.3:p.?	NC_000014.8:g.65544615G>A	(Likely) benign	1 lab	dc8d88352f
3:12859864 MISSING C>Alt too long to show for this DUP	3	12859864	12943106	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.12859865_12943106dup	VUS	1 lab	dc93825ac3
17:40716485 COASY T>A	17	40716485	40716485	T	A	COASY	c.937T>A	NM_025233.7	NP_079509.5:p.(Tyr313Asn)	NC_000017.10:g.40716485T>A	VUS	1 lab	dc945a8cab
17:48267357 COL1A1 C>T	17	48267357	48267357	C	T	COL1A1	c.2559+5G>A	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48267357C>T	(Likely) pathogenic	1 lab	dc94bbdbaa
2:179614974 TTN G>A	2	179614974	179614974	G	A	TTN	c.12153C>T	NM_133379.5	NP_596870.2:p.(Asp4051=)	NC_000002.11:g.179614974G>A	(Likely) benign	1 lab	dc9b3b5402
2:211527827 CPS1 GT>G	2	211527827	211527839	GT	G	CPS1	c.3928-8del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211527839del	(Likely) benign	1 lab	dc9d4c3b02
10:92680108 ANKRD1 A>G	10	92680108	92680108	A	G	ANKRD1	c.28-3T>C	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92680108A>G	(Likely) benign	1 lab	dca257acfb
2:99012707 CNGA3 G>A	2	99012707	99012707	G	A	CNGA3	c.1074G>A	NM_001298.3	NP_001289.1:p.(Trp358Ter)	NC_000002.11:g.99012707G>A	(Likely) pathogenic	1 lab	dca70ec1e0
10:91007376 LIPA G>C	10	91007376	91007376	G	C	LIPA	c.30C>G	NM_000235.4	NP_000226.2:p.(Val10=)	NC_000010.10:g.91007376G>C	VUS	1 lab	dcaba07378
2:44047153 ABCG5 G>T	2	44047153	44047153	G	T	ABCG5	c.1550C>A	NM_022436.3	NP_071881.1:p.(Thr517Asn)	NC_000002.11:g.44047153G>T	VUS	1 lab	dcb0a35c89
7:151262463 PRKAG2 ACTTTTC>A	7	151262463	151262471	ACTTTTC	A	PRKAG2	c.1400_1405del	NM_016203.4	NP_057287.2:p.(Gly467_Lys468del)	NC_000007.13:g.151262466_151262471del	(Likely) benign	1 lab	dcb810ea33
16:67977382 LCAT T>C	16	67977382	67977382	T	C	LCAT	c.155-267A>G	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67977382T>C	(Likely) benign	1 lab	dcbd3e9baa
6:32029226 TNXB A>G	6	32029226	32029226	A	G	TNXB	c.7440T>C	NM_019105.8	NP_061978.6:p.(Tyr2480=)	NC_000006.11:g.32029226A>G	(Likely) benign	1 lab	dcc0e49b02
6:100838920 SIM1 C>G	6	100838920	100838920	C	G	SIM1	c.1618G>C	NM_005068.3	NP_005059.2:p.(Gly540Arg)	NC_000006.11:g.100838920C>G	VUS	1 lab	dcc0ecdab4
16:53682918 RPGRIP1L C>T	16	53682918	53682918	C	T	RPGRIP1L	c.2262G>A	NM_015272.5	NP_056087.2:p.(Gly754=)	NC_000016.9:g.53682918C>T	(Likely) benign	1 lab	dcc2664789
12:125302217 SCARB1 T>C	12	125302217	125302217	T	C	SCARB1	c.163A>G	NM_001367981.1	NP_001354910.1:p.(Met55Val)	NC_000012.11:g.125302217T>C	VUS	1 lab	dcc343dd71
10:5495566 MISSING T>Alt too long to show for this DUP	10	5495566	5926218	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.5495570_5926218dup	VUS	1 lab	dcc3ab7f45
5:95744037 PCSK1 G>A	5	95744037	95744037	G	A	PCSK1	c.1096-10C>T	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95744037G>A	(Likely) benign	1 lab	dcc6edb220
2:179548782 TTN G>A	2	179548782	179548782	G	A	TTN	c.32750C>T	NM_001267550.2	NP_001254479.2:p.(Pro10917Leu)	NC_000002.11:g.179548782G>A	(Likely) benign	1 lab	dcecc8d3dc
15:90320120 MESP2 GAGGGGCAGGGGCAAGGGCAGGGGC>G	15	90320120	90320169	GAGGGGCAGGGGCAAGGGCAGGGGC	G	MESP2	c.558_581del	NM_001039958.2	NP_001035047.1:p.(Gln198_Gly205del)	NC_000015.9:g.90320146_90320169del	(Likely) benign	1 lab	dcc73f7a4a
3:37042537 MLH1 G>A	3	37042537	37042537	G	A	MLH1	c.299G>A	NM_000249.4	NP_000240.1:p.(Arg100Gln)	NC_000003.11:g.37042537G>A	VUS	1 lab	dcc9827ba0
8:133899507 TG A>G	8	133899507	133899507	A	G	TG	c.1890A>G	NM_003235.5	NP_003226.4:p.(Gln630=)	NC_000008.10:g.133899507A>G	(Likely) benign	1 lab	dccd5f63f9
11:68675806 IGHMBP2 G>C	11	68675806	68675806	G	C	IGHMBP2	c.449+1G>C	NM_002180.3	NP_002171.2:p.?	NC_000011.9:g.68675806G>C	VUS	1 lab	dcd3080aeb
1:156849884 NTRK1 G>A	1	156849884	156849884	G	A	NTRK1	c.2140G>A	NM_002529.4	NP_002520.2:p.(Gly714Ser)	NC_000001.10:g.156849884G>A	(Likely) pathogenic	1 lab	dcd386f6f0
11:108200946 ATM C>T	11	108200946	108200946	C	T	ATM	c.7313C>T	NM_000051.4	NP_000042.3:p.(Thr2438Ile)	NC_000011.9:g.108200946C>T	(Likely) benign	1 lab	dcd817eb8e
1:46561089 MISSING Ref too long to show for this DEL>A	1	46561089	46668497	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.46561090_46668497del	VUS	1 lab	dcdee276db
14:23282152 SLC7A7 G>A	14	23282152	23282152	G	A	SLC7A7	c.456C>T	NM_001126106.4	NP_001119578.1:p.(Phe152=)	NC_000014.8:g.23282152G>A	(Likely) benign	1 lab	dce03d94d8
3:167506956 SERPINI1 A>G	3	167506956	167506956	A	G	SERPINI1	c.40A>G	NM_005025.5	NP_005016.1:p.(Ser14Gly)	NC_000003.11:g.167506956A>G	(Likely) benign	1 lab	dce2e9ec00
9:107562138 ABCA1 G>A	9	107562138	107562138	G	A	ABCA1	c.4905C>T	NM_005502.4	NP_005493.2:p.(Pro1635=)	NC_000009.11:g.107562138G>A	(Likely) benign	1 lab	dce8422298
6:39881509 MOCS1 C>G	6	39881509	39881509	C	G	MOCS1	c.645+9G>C	NM_005943.6	NP_005934.2:p.?	NC_000006.11:g.39881509C>G	(Likely) benign	1 lab	dce8cb5c12
9:107588476 ABCA1 A>C	9	107588476	107588476	A	C	ABCA1	c.2338-308T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588476A>C	(Likely) benign	1 lab	dcec9fda4e
7:94049547 COL1A2 C>T	7	94049547	94049547	C	T	COL1A2	c.2082C>T	NM_000089.4	NP_000080.2:p.(Gly694=)	NC_000007.13:g.94049547C>T	(Likely) benign	1 lab	dceca3b3c9
18:56551093 MISSING Ref too long to show for this DEL>G	18	56551093	61245986	Ref too long to show for this DEL	G	MISSING				NC_000018.9:g.56551094_61245986del	(Likely) pathogenic	1 lab	dcf37e10d2
9:107594877 ABCA1 C>T	9	107594877	107594877	C	T	ABCA1	c.1487G>A	NM_005502.4	NP_005493.2:p.(Arg496Gln)	NC_000009.11:g.107594877C>T	(Likely) benign	1 lab	dcf787103e
15:45404077 DUOX2 T>C	15	45404077	45404077	T	C	DUOX2	c.402A>G	NM_014080.5	NP_054799.4:p.(Pro134=)	NC_000015.9:g.45404077T>C	(Likely) benign	1 lab	dcf9aeff12
19:10259613 DNMT1 G>A	19	10259613	10259613	G	A	DNMT1	c.2667C>T	NM_001130823.3	NP_001124295.1:p.(Tyr889=)	NC_000019.9:g.10259613G>A	(Likely) benign	1 lab	dcfc9f9c9d
2:179613676 TTN T>C	2	179613676	179613676	T	C	TTN	c.13451A>G	NM_133379.5	NP_596870.2:p.(Asn4484Ser)	NC_000002.11:g.179613676T>C	VUS	1 lab	dcfcf90771
15:73617464 HCN4 C>T	15	73617464	73617464	C	T	HCN4	c.1810G>A	NM_005477.3	NP_005468.1:p.(Val604Met)	NC_000015.9:g.73617464C>T	VUS	1 lab	dcffe492c0
17:79813688 P4HB G>A	17	79813688	79813688	G	A	P4HB	c.353-226C>T	NM_000918.4	NP_000909.2:p.?	NC_000017.10:g.79813688G>A	(Likely) benign	1 lab	dd00a25144
12:21331970 SLCO1B1 A>G	12	21331970	21331970	A	G	SLCO1B1	c.727+16A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331970A>G	(Likely) benign	1 lab	dd02a9009f
2:25141530 ADCY3 G>A	2	25141530	25141530	G	A	ADCY3	c.327C>T	NM_001377128.1	NP_001364057.1:p.(Ala109=)	NC_000002.11:g.25141530G>A	(Likely) benign	1 lab	dd0dd5b76e
17:263336 LIAT1 C>T	17	263336	263336	C	T	LIAT1	c.702C>T	NM_001013672.5	NP_001013694.4:p.(Gly234=)	NC_000017.10:g.263336C>T	(Likely) benign	1 lab	dd10d92af4
9:107581749 ABCA1 A>C	9	107581749	107581749	A	C	ABCA1	c.3241+118T>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107581749A>C	(Likely) benign	1 lab	dd11aff892
17:1561680 PRPF8 A>T	17	1561680	1561680	A	T	PRPF8	c.5377-5T>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1561680A>T	VUS	1 lab	dd15a4b091
1:12062085 MFN2 C>T	1	12062085	12062085	C	T	MFN2	c.1085C>T	NM_014874.4	NP_055689.1:p.(Thr362Met)	NC_000001.10:g.12062085C>T	(Likely) pathogenic	1 lab	dd1860cb0f
2:220503475 SLC4A3 G>A	2	220503475	220503475	G	A	SLC4A3	c.2988G>A	NM_201574.3	NP_963868.3:p.(Ser996=)	NC_000002.11:g.220503475G>A	(Likely) benign	1 lab	dd1c34d5dd
15:45455982 DUOX1 C>T	15	45455982	45455982	C	T	DUOX1	c.4405-6C>T	NM_017434.5	NP_059130.2:p.?	NC_000015.9:g.45455982C>T	(Likely) benign	1 lab	dd28761803
2:179425555 TTN A>G	2	179425555	179425555	A	G	TTN	c.85304T>C	NM_001267550.2	NP_001254479.2:p.(Val28435Ala)	NC_000002.11:g.179425555A>G	VUS	1 lab	dd2f732a3b
3:141205951 RASA2 C>T	3	141205951	141205951	C	T	RASA2	c.26C>T	NM_001303246.3	NP_001290175.1:p.(Ala9Val)	NC_000003.11:g.141205951C>T	(Likely) benign	1 lab	dd31e2bd64
21:47422601 COL6A1 A>C	21	47422601	47422601	A	C	COL6A1	c.2411A>C	NM_001848.3	NP_001839.2:p.(Asn804Thr)	NC_000021.8:g.47422601A>C	VUS	1 lab	dd33811edd
2:44051522 ABCG5 G>A	2	44051522	44051522	G	A	ABCG5	c.954C>T	NM_022436.3	NP_071881.1:p.(Thr318=)	NC_000002.11:g.44051522G>A	(Likely) benign	1 lab	dd342ef6ff
16:68716324 CDH3 C>T	16	68716324	68716324	C	T	CDH3	c.1116C>T	NM_001793.6	NP_001784.2:p.(Asp372=)	NC_000016.9:g.68716324C>T	(Likely) benign	1 lab	dd363144fb
12:33003619 PKP2 A>C	12	33003619	33003619	A	C	PKP2	c.1378+81T>G	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.33003619A>C	(Likely) benign	1 lab	dd36fc4d87
9:107550215 ABCA1 G>A	9	107550215	107550215	G	A	ABCA1	c.6190C>T	NM_005502.4	NP_005493.2:p.(Pro2064Ser)	NC_000009.11:g.107550215G>A	VUS	1 lab	dd3cac5b63
9:137593097 COL5A1 T>C	9	137593097	137593097	T	C	COL5A1	c.572T>C	NM_000093.5	NP_000084.3:p.(Leu191Pro)	NC_000009.11:g.137593097T>C	VUS	1 lab	dd446a7bb2
6:76657233 IMPG1 T>G	6	76657233	76657233	T	G	IMPG1	c.1842A>C	NM_001563.4	NP_001554.2:p.(Arg614=)	NC_000006.11:g.76657233T>G	(Likely) benign	1 lab	dd46c730f7
19:8154990 FBN3 C>T	19	8154990	8154990	C	T	FBN3	c.6177G>A	NM_032447.5	NP_115823.3:p.(Glu2059=)	NC_000019.9:g.8154990C>T	(Likely) benign	1 lab	dd4b29d0b6
7:151269777 PRKAG2 C>A	7	151269777	151269777	C	A	PRKAG2	c.1024G>T	NM_016203.4	NP_057287.2:p.(Glu342Ter)	NC_000007.13:g.151269777C>A	(Likely) pathogenic	1 lab	dd4cd088f2
2:21233875 APOB C>T	2	21233875	21233875	C	T	APOB	c.5865G>A	NM_000384.3	NP_000375.3:p.(Val1955=)	NC_000002.11:g.21233875C>T	(Likely) benign	1 lab	dd512323c6
2:21234004 APOB A>G	2	21234004	21234004	A	G	APOB	c.5736T>C	NM_000384.3	NP_000375.3:p.(Asn1912=)	NC_000002.11:g.21234004A>G	(Likely) benign	1 lab	dd567cc38b
X:67413750 OPHN1 T>C	X	67413750	67413750	T	C	OPHN1	c.1183A>G	NM_002547.3	NP_002538.1:p.(Asn395Asp)	NC_000023.10:g.67413750T>C	VUS	1 lab	dd6031893d
22:50962078 NCAPH2 G>T	22	50962078	50962078	G	T	NCAPH2	c.*274G>T	NM_001185011.2	NP_001171940.1:p.?	NC_000022.10:g.50962078G>T	(Likely) benign	1 lab	dd66301a0a
4:100543919 MTTP G>C	4	100543919	100543919	G	C	MTTP	c.2599G>C	NM_000253.4	NP_000244.2:p.(Glu867Gln)	NC_000004.11:g.100543919G>C	VUS	1 lab	dd6d5836e2
2:179437758 TTN T>G	2	179437758	179437758	T	G	TTN	c.73101A>C	NM_001267550.2	NP_001254479.2:p.(Glu24367Asp)	NC_000002.11:g.179437758T>G	VUS	1 lab	dd6fceb44a
8:133899575 TG G>A	8	133899575	133899575	G	A	TG	c.1958G>A	NM_003235.5	NP_003226.4:p.(Gly653Asp)	NC_000008.10:g.133899575G>A	(Likely) benign	1 lab	dd73e33e86
19:13386663 CACNA1A C>T	19	13386663	13386663	C	T	CACNA1A	c.4001+1G>A	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13386663C>T	(Likely) pathogenic	1 lab	dd778c8f1f
9:107591082 ABCA1 G>T	9	107591082	107591082	G	T	ABCA1	c.2115+115C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107591082G>T	(Likely) benign	1 lab	dd79a763dd
15:85383168 ALPK3 C>T	15	85383168	85383168	C	T	ALPK3	c.658C>T	NM_020778.5	NP_065829.4:p.(Arg220Cys)	NC_000015.9:g.85383168C>T	VUS	1 lab	dd7a22b5b3
2:219677413 CYP27A1 G>A	2	219677413	219677413	G	A	CYP27A1	c.785G>A	NM_000784.4	NP_000775.1:p.(Arg262His)	NC_000002.11:g.219677413G>A	VUS	1 lab	dd7b7ea4f9
1:29650265 PTPRU C>T	1	29650265	29650265	C	T	PTPRU	c.4107C>T	NM_005704.5	NP_005695.3:p.(Ala1369=)	NC_000001.10:g.29650265C>T	(Likely) benign	1 lab	dd7cbd7ec8
14:102900956 TECPR2 C>T	14	102900956	102900956	C	T	TECPR2	c.1802C>T	NM_014844.5	NP_055659.2:p.(Pro601Leu)	NC_000014.8:g.102900956C>T	(Likely) benign	1 lab	dd856c2cda
11:47363574 MYBPC3 G>A	11	47363574	47363574	G	A	MYBPC3	c.1758C>T	NM_000256.3	NP_000247.2:p.(Pro586=)	NC_000011.9:g.47363574G>A	(Likely) benign	1 lab	dd86eeafd0
11:121428047 SORL1 C>T	11	121428047	121428047	C	T	SORL1	c.2596C>T	NM_003105.6	NP_003096.2:p.(Arg866Ter)	NC_000011.9:g.121428047C>T	(Likely) pathogenic	1 lab	dd871095a4
15:60792178 RORA T>TA	15	60792178	60792179	T	TA	RORA	c.1319dup	NM_134261.3	NP_599023.1:p.(Ile442AsnfsTer2)	NC_000015.9:g.60792179dup	(Likely) pathogenic	1 lab	dd888af498
4:184601362 TRAPPC11 A>G	4	184601362	184601362	A	G	TRAPPC11	c.1055A>G	NM_021942.6	NP_068761.4:p.(Gln352Arg)	NC_000004.11:g.184601362A>G	VUS	1 lab	dd8945da5f
7:107432279 SLC26A3 G>A	7	107432279	107432279	G	A	SLC26A3	c.378C>T	NM_000111.3	NP_000102.1:p.(Ser126=)	NC_000007.13:g.107432279G>A	(Likely) benign	1 lab	dd936f0e99
8:1788931 ARHGEF10 Ref too long to show for this DEL>T	8	1788931	1829245	Ref too long to show for this DEL	T	ARHGEF10	c.-47-2586_960+915del	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1788933_1829245del	VUS	1 lab	dd93d779b5
1:6534499 PLEKHG5 G>C	1	6534499	6534499	G	C	PLEKHG5	c.439+12C>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6534499G>C	(Likely) benign	1 lab	dd9b7415cf
11:47370478 MYBPC3 T>TATATATATATATATATATATATATA	11	47370478	47370479	T	TATATATATATATATATATATATATA	MYBPC3	c.655-387_655-386insTATATATATATATATATATATATAT	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATA	(Likely) benign	1 lab	dd9c1c4d33
5:79974681 MSH3 T>C	5	79974681	79974681	T	C	MSH3	c.1174-65T>C	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79974681T>C	(Likely) benign	1 lab	dda1607b66
17:61995753 GH1 G>A	17	61995753	61995753	G	A	GH1	c.124C>T	NM_000515.5	NP_000506.2:p.(Arg42Cys)	NC_000017.10:g.61995753G>A	VUS	1 lab	dda166c11b
1:228582856 TRIM11 C>G	1	228582856	228582856	C	G	TRIM11	c.957G>C	NM_145214.3	NP_660215.1:p.(Pro319=)	NC_000001.10:g.228582856C>G	(Likely) benign	1 lab	ddaa7b1af4
15:85383301 ALPK3 G>T	15	85383301	85383301	G	T	ALPK3	c.791G>T	NM_020778.5	NP_065829.4:p.(Gly264Val)	NC_000015.9:g.85383301G>T	VUS	1 lab	ddaf8b759b
9:135204394 SETX G>A	9	135204394	135204394	G	A	SETX	c.2591C>T	NM_015046.7	NP_055861.3:p.(Pro864Leu)	NC_000009.11:g.135204394G>A	(Likely) benign	1 lab	ddb03fa0d1
13:32928997 BRCA2 G>A	13	32928997	32928997	G	A	BRCA2	c.7008-1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32928997G>A	(Likely) pathogenic	1 lab	ddbc0b7042
2:179532346 TTN G>C	2	179532346	179532346	G	C	TTN	c.35629+19C>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179532346G>C	(Likely) benign	1 lab	ddc762af38
X:153523169 MISSING A>Alt too long to show for this DUP	X	153523169	153609165	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153523172_153609165dup	VUS	1 lab	ddc9c82f4c
6:32021291 TNXB G>A	6	32021291	32021291	G	A	TNXB	c.8659C>T	NM_019105.8	NP_061978.6:p.(Arg2887Trp)	NC_000006.11:g.32021291G>A	VUS	1 lab	ddcaafaff1
2:219674317 CYP27A1 G>A	2	219674317	219674317	G	A	CYP27A1	c.273G>A	NM_000784.4	NP_000775.1:p.(Lys91=)	NC_000002.11:g.219674317G>A	(Likely) benign	1 lab	ddd1d25e83
13:35733449 NBEA T>G	13	35733449	35733449	T	G	NBEA	c.3141T>G	NM_015678.5	NP_056493.3:p.(Gly1047=)	NC_000013.10:g.35733449T>G	(Likely) benign	1 lab	ddd1ffc83a
4:16189980 TAPT1 TA>T	4	16189980	16189991	TA	T	TAPT1	c.613-3del	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16189991del	(Likely) benign	1 lab	ddd503952a
19:11223685 LDLR T>TGG	19	11223685	11223687	T	TGG	LDLR	c.1187-268_1187-267insGG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223686_11223687insGG	(Likely) benign	1 lab	ddd9208e01
10:127081468 MISSING T>Alt too long to show for this DUP	10	127081468	128012550	T	Alt too long to show for this DUP	MISSING				NC_000010.10:g.127081469_128012550dup	(Likely) pathogenic	1 lab	ddfdbda670
16:86601961 FOXC2 CG>C	16	86601961	86601965	CG	C	FOXC2	c.1024del	NM_005251.3	NP_005242.1:p.(Ala342ProfsTer28)	NC_000016.9:g.86601965del	(Likely) pathogenic	1 lab	dde04cceb1
8:95793310 DPY19L4 A>T	8	95793310	95793310	A	T	DPY19L4	c.1633-2A>T	NM_181787.3	NP_861452.2:p.?	NC_000008.10:g.95793310A>T	(Likely) benign	1 lab	dde2088d80
20:57466761 GNAS CCCG>C	20	57466761	57466781	CCCG	C	GNAS	c.-3_-1del	NM_001077488.5	NP_001070956.1:p.?	NC_000020.10:g.57466779_57466781del	(Likely) benign	1 lab	dde6dc4cea
19:33222663 MISSING Ref too long to show for this DEL>A	19	33222663	33553024	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.33222667_33553024del	VUS	1 lab	dde77f75d2
10:48388842 RBP3 A>T	10	48388842	48388842	A	T	RBP3	c.2036T>A	NM_002900.3	NP_002891.1:p.(Leu679Ter)	NC_000010.10:g.48388842A>T	(Likely) pathogenic	1 lab	ddee49a60f
18:12514415 MISSING A>Alt too long to show for this DUP	18	12514415	12808942	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.12514416_12808942dup	VUS	1 lab	ddf13c553e
8:95160967 CDH17 C>T	8	95160967	95160967	C	T	CDH17	c.1927+5G>A	NM_001144663.2	NP_001138135.1:p.?	NC_000008.10:g.95160967C>T	(Likely) benign	1 lab	ddf3a47faa
19:50321587 MED25 A>G	19	50321587	50321587	A	G	MED25	c.-12A>G	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50321587A>G	(Likely) benign	1 lab	ddf57892df
15:21071485 POTEB2 A>G	15	21071485	21071485	A	G	POTEB2	c.126T>C	NM_001277303.1	NP_001264232.1:p.(Asn42=)	NC_000015.9:g.21071485A>G	(Likely) benign	1 lab	ddf7944163
16:21212741 ZP2 G>A	16	21212741	21212741	G	A	ZP2	c.1643C>T	NM_001376232.1	NP_001363161.1:p.(Thr548Met)	NC_000016.9:g.21212741G>A	VUS	1 lab	ddfa6c83a5
19:39275244 MISSING A>Alt too long to show for this DUP	19	39275244	39311331	A	Alt too long to show for this DUP	MISSING				NC_000019.9:g.39275246_39311331dup	VUS	1 lab	ddfae98ee2
8:55537487 RP1 T>A	8	55537487	55537487	T	A	RP1	c.1045T>A	NM_006269.2	NP_006260.1:p.(Trp349Arg)	NC_000008.10:g.55537487T>A	VUS	1 lab	ddfd39bd3d
19:12775617 MAN2B1 G>A	19	12775617	12775617	G	A	MAN2B1	c.619C>T	NM_000528.4	NP_000519.2:p.(Leu207=)	NC_000019.9:g.12775617G>A	(Likely) benign	1 lab	de00aa6bfd
2:1497748 TPO G>A	2	1497748	1497748	G	A	TPO	c.1943G>A	NM_000547.6	NP_000538.3:p.(Arg648Gln)	NC_000002.11:g.1497748G>A	(Likely) pathogenic	1 lab	de041783f1
18:29125819 DSG2 C>T	18	29125819	29125819	C	T	DSG2	c.2470C>T	NM_001943.5	NP_001934.2:p.(Arg824Cys)	NC_000018.9:g.29125819C>T	(Likely) benign	1 lab	de055dba88
14:21780616 RPGRIP1 GA>G	14	21780616	21780621	GA	G	RPGRIP1	c.1107del	NM_020366.4	NP_065099.3:p.(Glu370AsnfsTer5)	NC_000014.8:g.21780621del	(Likely) pathogenic	1 lab	de05f2b460
2:21225984 APOB G>T	2	21225984	21225984	G	T	APOB	c.12310C>A	NM_000384.3	NP_000375.3:p.(Leu4104Met)	NC_000002.11:g.21225984G>T	(Likely) benign	1 lab	de112bf20c
11:47431861 SLC39A13 C>T	11	47431861	47431861	C	T	SLC39A13	c.216C>T	NM_001128225.3	NP_001121697.2:p.(Leu72=)	NC_000011.9:g.47431861C>T	(Likely) benign	1 lab	de159096b6
2:179639691 TTN C>T	2	179639691	179639691	C	T	TTN	c.6747G>A	NM_001267550.2	NP_001254479.2:p.(Val2249=)	NC_000002.11:g.179639691C>T	(Likely) benign	1 lab	de161379a2
14:23857458 MYH6 C>T	14	23857458	23857458	C	T	MYH6	c.4265G>A	NM_002471.4	NP_002462.2:p.(Arg1422Gln)	NC_000014.8:g.23857458C>T	VUS	1 lab	de16f1976f
17:33903201 PEX12 CTG>C	17	33903201	33903204	CTG	C	PEX12	c.681-3_681-2del	NM_000286.3	NP_000277.1:p.?	NC_000017.10:g.33903203_33903204del	(Likely) benign	1 lab	de1a0065bf
12:125302247 SCARB1 G>A	12	125302247	125302247	G	A	SCARB1	c.133C>T	NM_001367981.1	NP_001354910.1:p.(Arg45Cys)	NC_000012.11:g.125302247G>A	(Likely) benign	1 lab	de1ae7299a
1:156836782 NTRK1 C>A	1	156836782	156836782	C	A	NTRK1	c.428+12C>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156836782C>A	(Likely) benign	1 lab	de1c0c1833
9:137687165 COL5A1 T>C	9	137687165	137687165	T	C	COL5A1	c.2799+4T>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137687165T>C	(Likely) benign	1 lab	de1e9cd674
10:90701221 ACTA2 G>A	10	90701221	90701221	G	A	ACTA2	c.455-74C>T	NM_001141945.2	NP_001135417.1:p.?	NC_000010.10:g.90701221G>A	(Likely) benign	1 lab	de1f9f0125
7:140434587 BRAF AAAAAAAAAAG>A	7	140434587	140434613	AAAAAAAAAAG	A	BRAF	c.2128-27_2128-18del	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140434604_140434613del	(Likely) benign	1 lab	de213272ca
1:55527131 PCSK9 G>A	1	55527131	55527131	G	A	PCSK9	c.1765G>A	NM_174936.4	NP_777596.2:p.(Val589Met)	NC_000001.10:g.55527131G>A	VUS	1 lab	de2544f052
8:1876677 ARHGEF10 G>A	8	1876677	1876677	G	A	ARHGEF10	c.2782G>A	NM_014629.4	NP_055444.2:p.(Val928Met)	NC_000008.10:g.1876677G>A	VUS	1 lab	de2c5731a8
7:128481363 FLNC C>T	7	128481363	128481363	C	T	FLNC	c.1953C>T	NM_001458.5	NP_001449.3:p.(Asp651=)	NC_000007.13:g.128481363C>T	(Likely) benign	1 lab	de2d7aa142
8:10079043 MSRA Ref too long to show for this DEL>T	8	10079043	10101580	Ref too long to show for this DEL	T	MSRA	c.211+13634_212-1034del	NM_012331.5	NP_036463.1:p.?	NC_000008.10:g.10079045_10101580del	VUS	1 lab	de391debab
3:38604120 SCN5A C>T	3	38604120	38604120	C	T	SCN5A	c.3838-92G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38604120C>T	(Likely) benign	1 lab	de3a2ef66a
9:94842358 SPTLC1 C>T	9	94842358	94842358	C	T	SPTLC1	c.367G>A	NM_001281303.2	NP_001268232.1:p.(Ala123Thr)	NC_000009.11:g.94842358C>T	VUS	1 lab	de3cce1c75
11:73796784 C2CD3 A>G	11	73796784	73796784	A	G	C2CD3	c.3789T>C	NM_001286577.2	NP_001273506.1:p.(His1263=)	NC_000011.9:g.73796784A>G	(Likely) benign	1 lab	de3d3b0f3e
16:46766280 MYLK3 G>A	16	46766280	46766280	G	A	MYLK3	c.1302C>T	NM_182493.3	NP_872299.2:p.(Asp434=)	NC_000016.9:g.46766280G>A	(Likely) benign	1 lab	de3dee1cac
19:15290292 NOTCH3 T>A	19	15290292	15290292	T	A	NOTCH3	c.3343A>T	NM_000435.3	NP_000426.2:p.(Asn1115Tyr)	NC_000019.9:g.15290292T>A	(Likely) benign	1 lab	de401ff442
10:75849092 VCL G>C	10	75849092	75849092	G	C	VCL	c.1161G>C	NM_003373.4	NP_003364.1:p.(Lys387Asn)	NC_000010.10:g.75849092G>C	VUS	1 lab	de4358deb1
13:32931858 BRCA2 G>T	13	32931858	32931858	G	T	BRCA2	c.7618-21G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32931858G>T	(Likely) benign	1 lab	de4524fc59
6:32064572 TNXB A>T	6	32064572	32064572	A	T	TNXB	c.1058T>A	NM_019105.8	NP_061978.6:p.(Val353Glu)	NC_000006.11:g.32064572A>T	VUS	1 lab	de459449ae
11:12901402 TEAD1 C>T	11	12901402	12901402	C	T	TEAD1	c.465+13C>T	NM_021961.6	NP_068780.2:p.?	NC_000011.9:g.12901402C>T	(Likely) benign	1 lab	de485cc80a
1:150321686 PRPF3 G>C	1	150321686	150321686	G	C	PRPF3	c.1897G>C	NM_004698.4	NP_004689.1:p.(Val633Leu)	NC_000001.10:g.150321686G>C	(Likely) benign	1 lab	de487d9060
9:94821496 SPTLC1 G>A	9	94821496	94821496	G	A	SPTLC1	c.655C>T	NM_001281303.2	NP_001268232.1:p.(Arg219Ter)	NC_000009.11:g.94821496G>A	VUS	1 lab	de4f4cc7b9
20:21195214 KIZ C>T	20	21195214	21195214	C	T	KIZ	c.1488C>T	NM_018474.6	NP_060944.3:p.(Gly496=)	NC_000020.10:g.21195214C>T	(Likely) benign	1 lab	de507dec82
19:17753703 UNC13A C>T	19	17753703	17753703	C	T	UNC13A	c.2423G>A	NM_001080421.3	NP_001073890.2:p.(Gly808Asp)	NC_000019.9:g.17753703C>T	(Likely) pathogenic	1 lab	de51c197b4
18:50690707 DCC Ref too long to show for this DEL>C	18	50690707	50707647	Ref too long to show for this DEL	C	DCC	c.1418+6826_1573+2161del	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50690708_50707647del	VUS	1 lab	de546fd70e
12:99753000 ANKS1B Ref too long to show for this DEL>A	12	99753000	99881951	Ref too long to show for this DEL	A	ANKS1B	c.1438+16303_1756+40408del	NM_001352186.2	NP_001339115.1:p.?	NC_000012.11:g.99753001_99881951del	VUS	1 lab	de581efa2a
19:11226908 LDLR G>A	19	11226908	11226908	G	A	LDLR	c.1705+20G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226908G>A	(Likely) benign	1 lab	de5a6152a7
2:21232404 APOB C>T	2	21232404	21232404	C	T	APOB	c.7336G>A	NM_000384.3	NP_000375.3:p.(Val2446Met)	NC_000002.11:g.21232404C>T	(Likely) benign	1 lab	de5d799ac2
10:61932682 ANK3 G>A	10	61932682	61932682	G	A	ANK3	c.2358C>T	NM_020987.5	NP_066267.2:p.(Asn786=)	NC_000010.10:g.61932682G>A	(Likely) benign	1 lab	de64434859
5:148411156 SH3TC2 T>C	5	148411156	148411156	T	C	SH3TC2	c.1096A>G	NM_024577.4	NP_078853.2:p.(Thr366Ala)	NC_000005.9:g.148411156T>C	VUS	1 lab	de68c120bf
15:85360440 ALPK3 C>A	15	85360440	85360440	C	A	ALPK3				NC_000015.9:g.85360440C>A	(Likely) benign	1 lab	de6ff2b884
3:5285169 MISSING Ref too long to show for this DEL>G	3	5285169	5405828	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.5285172_5405828del	VUS	1 lab	de76c785b5
19:10883188 DNM2 A>G	19	10883188	10883188	A	G	DNM2	c.269A>G	NM_001005360.3	NP_001005360.1:p.(Lys90Arg)	NC_000019.9:g.10883188A>G	VUS	1 lab	de7ac89698
19:15288890 NOTCH3 AC>A	19	15288890	15288894	AC	A	NOTCH3	c.3848del	NM_000435.3	NP_000426.2:p.(Gly1283ValfsTer137)	NC_000019.9:g.15288894del	(Likely) benign	1 lab	de7bfadf80
3:57898448 SLMAP A>G	3	57898448	57898448	A	G	SLMAP	c.1918+20A>G	NM_007159.5	NP_009090.2:p.?	NC_000003.11:g.57898448A>G	(Likely) benign	1 lab	de827e8ddc
18:5433922 EPB41L3 G>A	18	5433922	5433922	G	A	EPB41L3	c.804C>T	NM_012307.5	NP_036439.2:p.(Ile268=)	NC_000018.9:g.5433922G>A	(Likely) benign	1 lab	de8496f1b7
16:15876008 MYH11 G>A	16	15876008	15876008	G	A	MYH11	c.726+234C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15876008G>A	(Likely) benign	1 lab	de89549fff
16:81411040 GAN C>T	16	81411040	81411040	C	T	GAN	c.1633C>T	NM_022041.4	NP_071324.1:p.(Arg545Cys)	NC_000016.9:g.81411040C>T	(Likely) pathogenic	1 lab	de91a72382
2:179547582 TTN T>G	2	179547582	179547582	T	G	TTN	c.32936A>C	NM_001267550.2	NP_001254479.2:p.(Glu10979Ala)	NC_000002.11:g.179547582T>G	VUS	1 lab	de9215123e
5:90149282 ADGRV1 C>T	5	90149282	90149282	C	T	ADGRV1	c.17386C>T	NM_032119.4	NP_115495.3:p.(Gln5796Ter)	NC_000005.9:g.90149282C>T	(Likely) pathogenic	1 lab	de9385efa9
16:77356222 ADAMTS18 C>T	16	77356222	77356222	C	T	ADAMTS18	c.1647+11G>A	NM_001326358.2	NP_001313287.1:p.?	NC_000016.9:g.77356222C>T	(Likely) benign	1 lab	de98529623
2:150443619 MMADHC G>A	2	150443619	150443619	G	A	MMADHC	c.-8C>T	NM_015702.3	NP_056517.1:p.?	NC_000002.11:g.150443619G>A	(Likely) benign	1 lab	de9a3d854c
12:2714964 CACNA1C G>T	12	2714964	2714964	G	T	CACNA1C	c.3216+12G>T	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2714964G>T	(Likely) benign	1 lab	de9a5b5a97
22:29095856 CHEK2 G>A	22	29095856	29095856	G	A	CHEK2	c.978C>T	NM_007194.4	NP_009125.1:p.(Leu326=)	NC_000022.10:g.29095856G>A	(Likely) benign	1 lab	dea186287e
15:58856033 LIPC T>C	15	58856033	58856033	T	C	LIPC	c.1388+111T>C	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58856033T>C	(Likely) benign	1 lab	dea96a555e
15:58834830 LIPC A>G	15	58834830	58834830	A	G	LIPC	c.554A>G	NM_000236.3	NP_000227.2:p.(His185Arg)	NC_000015.9:g.58834830A>G	VUS	1 lab	deaad2aa45
16:904635 LMF1 C>T	16	904635	904635	C	T	LMF1	c.1601G>A	NM_022773.4	NP_073610.2:p.(Trp534Ter)	NC_000016.9:g.904635C>T	(Likely) pathogenic	1 lab	deae69f2fc
2:74598206 DCTN1 A>T	2	74598206	74598206	A	T	DCTN1	c.743T>A	NM_004082.5	NP_004073.2:p.(Leu248Gln)	NC_000002.11:g.74598206A>T	VUS	1 lab	deb2bc1d73
19:11201992 LDLR C>G	19	11201992	11201992	C	G	LDLR	c.67+1701C>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11201992C>G	(Likely) benign	1 lab	deb65d3efd
14:102452805 DYNC1H1 A>G	14	102452805	102452805	A	G	DYNC1H1	c.2243A>G	NM_001376.5	NP_001367.2:p.(Lys748Arg)	NC_000014.8:g.102452805A>G	VUS	1 lab	deb88d7f7d
15:48757662 FBN1 T>C	15	48757662	48757662	T	C	FBN1	c.4942+103A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48757662T>C	(Likely) benign	1 lab	debb02c33a
4:100534252 MTTP T>C	4	100534252	100534252	T	C	MTTP	c.2172T>C	NM_000253.4	NP_000244.2:p.(Pro724=)	NC_000004.11:g.100534252T>C	(Likely) benign	1 lab	debb0e721c
2:47606980 EPCAM C>T	2	47606980	47606980	C	T	EPCAM	c.730C>T	NM_002354.3	NP_002345.2:p.(Pro244Ser)	NC_000002.11:g.47606980C>T	VUS	1 lab	debc8bcc4f
10:50074765 WDFY4 Ref too long to show for this DEL>T	10	50074765	50103544	Ref too long to show for this DEL	T	WDFY4	c.6664-544_7317-1955del	NM_001394531.1	NP_001381460.1:p.?	NC_000010.10:g.50074766_50103544del	VUS	1 lab	debfb131ba
22:29092961 CHEK2 G>A	22	29092961	29092961	G	A	CHEK2	c.1023C>T	NM_007194.4	NP_009125.1:p.(Asn341=)	NC_000022.10:g.29092961G>A	(Likely) benign	1 lab	dec21b38c5
2:121742124 GLI2 G>A	2	121742124	121742124	G	A	GLI2	c.1761G>A	NM_005270.5	NP_005261.2:p.(Thr587=)	NC_000002.11:g.121742124G>A	(Likely) benign	1 lab	dec68615fa
3:154886421 MME C>A	3	154886421	154886421	C	A	MME	c.1914+7C>A	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154886421C>A	(Likely) benign	1 lab	dec79e899a
16:46763521 MYLK3 C>T	16	46763521	46763521	C	T	MYLK3	c.1647G>A	NM_182493.3	NP_872299.2:p.(Lys549=)	NC_000016.9:g.46763521C>T	(Likely) benign	1 lab	decc9601e0
12:125298786 SCARB1 T>C	12	125298786	125298786	T	C	SCARB1	c.592A>G	NM_005505.5	NP_005496.4:p.(Met198Val)	NC_000012.11:g.125298786T>C	(Likely) benign	1 lab	ded5d78216
3:184046558 EIF4G1 G>A	3	184046558	184046558	G	A	EIF4G1	c.4082+14G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184046558G>A	(Likely) benign	1 lab	ded6069991
11:67811770 TCIRG1 C>T	11	67811770	67811770	C	T	TCIRG1	c.979C>T	NM_006019.4	NP_006010.2:p.(Arg327Ter)	NC_000011.9:g.67811770C>T	(Likely) pathogenic	1 lab	ded758e885
5:82807936 VCAN C>T	5	82807936	82807936	C	T	VCAN	c.763C>T	NM_004385.5	NP_004376.2:p.(Leu255Phe)	NC_000005.9:g.82807936C>T	(Likely) benign	1 lab	ded8f9260f
17:15142892 PMP22 G>A	17	15142892	15142892	G	A	PMP22	c.215C>T	NM_000304.4	NP_000295.1:p.(Ser72Leu)	NC_000017.10:g.15142892G>A	(Likely) pathogenic	1 lab	dede36f090
9:137710433 COL5A1 A>C	9	137710433	137710433	A	C	COL5A1	c.4231-69A>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137710433A>C	(Likely) benign	1 lab	dedf1392d0
16:960991 LMF1 G>C	16	960991	960991	G	C	LMF1	c.603C>G	NM_022773.4	NP_073610.2:p.(Pro201=)	NC_000016.9:g.960991G>C	(Likely) benign	1 lab	dee28e2c4d
19:3771586 RAX2 G>A	19	3771586	3771586	G	A	RAX2	c.155C>T	NM_001319074.4	NP_001306003.2:p.(Pro52Leu)	NC_000019.9:g.3771586G>A	(Likely) benign	1 lab	dee55af43e
19:11213689 LDLR G>A	19	11213689	11213689	G	A	LDLR	c.313+227G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213689G>A	(Likely) benign	1 lab	dee68ccc40
1:103428257 COL11A1 A>G	1	103428257	103428257	A	G	COL11A1	c.3012T>C	NM_080629.3	NP_542196.2:p.(Pro1004=)	NC_000001.10:g.103428257A>G	(Likely) benign	1 lab	dee846bec2
3:172052790 FNDC3B G>A	3	172052790	172052790	G	A	FNDC3B	c.1698G>A	NM_022763.4	NP_073600.3:p.(Thr566=)	NC_000003.11:g.172052790G>A	(Likely) benign	1 lab	dee8aae130
2:228755662 DAW1 G>Alt too long to show for this DUP	2	228755662	228781499	G	Alt too long to show for this DUP	DAW1	c.259-307_974-1997dup	NM_178821.3	NP_849143.1:p.?	NC_000002.11:g.228755664_228781499dup	VUS	1 lab	deec615510
2:21224614 APOB A>G	2	21224614	21224614	A	G	APOB	c.13680T>C	NM_000384.3	NP_000375.3:p.(Thr4560=)	NC_000002.11:g.21224614A>G	(Likely) benign	1 lab	def11990f4
1:55512216 PCSK9 C>T	1	55512216	55512216	C	T	PCSK9	c.420C>T	NM_174936.4	NP_777596.2:p.(Val140=)	NC_000001.10:g.55512216C>T	(Likely) benign	1 lab	def9243eab
11:65306715 LTBP3 G>A	11	65306715	65306715	G	A	LTBP3	c.3761-13C>T	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65306715G>A	(Likely) benign	1 lab	def9af5e5f
14:102027950 DIO3 C>T	14	102027950	102027950	C	T	DIO3	c.117C>T	NM_001362.3	NP_001353.4:p.(Cys39=)	NC_000014.8:g.102027950C>T	(Likely) benign	1 lab	df038c7c8f
3:38595835 SCN5A C>T	3	38595835	38595835	C	T	SCN5A	c.4748G>A	NM_198056.3	NP_932173.1:p.(Arg1583His)	NC_000003.11:g.38595835C>T	(Likely) pathogenic	1 lab	df072da015
1:40778109 COL9A2 C>T	1	40778109	40778109	C	T	COL9A2	c.363+19G>A	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40778109C>T	(Likely) benign	1 lab	df08e2316c
16:88495367 ZNF469 G>A	16	88495367	88495367	G	A	ZNF469	c.1489G>A	NM_001367624.2	NP_001354553.1:p.(Gly497Arg)	NC_000016.9:g.88495367G>A	(Likely) benign	1 lab	df0b38ad49
8:90796369 RIPK2 TAAAA>T	8	90796369	90796392	TAAAA	T	RIPK2	c.1029+22_1029+25del	NM_003821.6	NP_003812.1:p.?	NC_000008.10:g.90796389_90796392del	(Likely) benign	1 lab	df1236da89
11:108099893 ATM GT>G	11	108099893	108099897	GT	G	ATM	c.186-8del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108099897del	VUS	1 lab	df1a2f0b39
1:55529182 PCSK9 C>T	1	55529182	55529182	C	T	PCSK9	c.2004C>T	NM_174936.4	NP_777596.2:p.(Ser668=)	NC_000001.10:g.55529182C>T	(Likely) benign	1 lab	df1d870ab6
6:112430700 LAMA4 G>A	6	112430700	112430700	G	A	LAMA4	c.5412C>T	NM_001105206.3	NP_001098676.2:p.(Ser1804=)	NC_000006.11:g.112430700G>A	VUS	1 lab	df2172106e
3:12046196 SYN2 A>C	3	12046196	12046196	A	C	SYN2	c.171=	NM_003178.6	NP_003169.2:p.(Gly57=)	NC_000003.11:g.12046196A>C	(Likely) benign	1 lab	df253dade5
5:10264962 CCT5 A>G	5	10264962	10264962	A	G	CCT5	c.*67A>G	NM_012073.5	NP_036205.1:p.?	NC_000005.9:g.10264962A>G	(Likely) benign	1 lab	df268ae61c
19:18717422 CRLF1 C>T	19	18717422	18717422	C	T	CRLF1	c.45G>A	NM_004750.5	NP_004741.1:p.(Arg15=)	NC_000019.9:g.18717422C>T	(Likely) benign	1 lab	df391f4b4a
10:95372929 PDE6C G>A	10	95372929	95372929	G	A	PDE6C	c.447G>A	NM_006204.4	NP_006195.3:p.(Thr149=)	NC_000010.10:g.95372929G>A	(Likely) benign	1 lab	df3b37832d
15:31341712 TRPM1 C>A	15	31341712	31341712	C	A	TRPM1	c.1489G>T	NM_001252020.2	NP_001238949.1:p.(Val497Leu)	NC_000015.9:g.31341712C>A	(Likely) benign	1 lab	df4356445b
1:185984442 HMCN1 A>G	1	185984442	185984442	A	G	HMCN1	c.4782A>G	NM_031935.3	NP_114141.2:p.(Ala1594=)	NC_000001.10:g.185984442A>G	(Likely) benign	1 lab	df43d08f9d
4:15993857 PROM1 C>T	4	15993857	15993857	C	T	PROM1	c.1884+14G>A	NM_001145847.2	NP_001139319.1:p.?	NC_000004.11:g.15993857C>T	(Likely) benign	1 lab	df45889c30
17:48275842 COL1A1 A>T	17	48275842	48275842	A	T	COL1A1	c.495T>A	NM_000088.4	NP_000079.2:p.(Tyr165Ter)	NC_000017.10:g.48275842A>T	(Likely) pathogenic	1 lab	df4698730e
10:18439855 CACNB2 C>G	10	18439855	18439855	C	G	CACNB2	c.80C>G	NM_201571.4	NP_963865.2:p.(Ser27Cys)	NC_000010.10:g.18439855C>G	VUS	1 lab	df495b06a7
15:28116392 OCA2 C>A	15	28116392	28116392	C	A	OCA2	c.2152G>T	NM_000275.3	NP_000266.2:p.(Glu718Ter)	NC_000015.9:g.28116392C>A	(Likely) pathogenic	1 lab	df50fed63a
6:106968671 CRYBG1 G>A	6	106968671	106968671	G	A	CRYBG1	c.2364G>A	NM_001624.4	NP_001615.2:p.(Gln788=)	NC_000006.11:g.106968671G>A	(Likely) benign	1 lab	df528ae9c1
13:41639425 WBP4 TAAAA>T	13	41639425	41639446	TAAAA	T	WBP4	c.262+20_262+23del	NM_007187.5	NP_009118.1:p.?	NC_000013.10:g.41639443_41639446del	(Likely) benign	1 lab	df5353253b
2:179458305 TTN T>C	2	179458305	179458305	T	C	TTN	c.51018A>G	NM_133378.4	NP_596869.4:p.(Lys17006=)	NC_000002.11:g.179458305T>C	(Likely) benign	1 lab	df55f4fbfd
9:2717725 KCNV2 C>T	9	2717725	2717725	C	T	KCNV2	c.-15C>T	NM_133497.4	NP_598004.1:p.?	NC_000009.11:g.2717725C>T	(Likely) benign	1 lab	df5a3388d3
7:128487671 FLNC GCCT>G	7	128487671	128487682	GCCT	G	FLNC	c.4289-71_4289-69del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128487680_128487682del	(Likely) benign	1 lab	df60574cea
2:21229502 APOB G>T	2	21229502	21229502	G	T	APOB	c.10238C>A	NM_000384.3	NP_000375.3:p.(Thr3413Asn)	NC_000002.11:g.21229502G>T	VUS	1 lab	df6739e983
3:38592003 SCN5A C>T	3	38592003	38592003	C	T	SCN5A	c.5860G>A	NM_001099404.2	NP_001092874.1:p.(Glu1954Lys)	NC_000003.11:g.38592003C>T	VUS	1 lab	df9f441819
13:23915453 SACS TTTTTTAAGGACAAACCCTC>T	13	23915453	23915472	TTTTTTAAGGACAAACCCTC	T	SACS	c.2543_2561del	NM_014363.6	NP_055178.3:p.(Gly848AspfsTer2)	NC_000013.10:g.23915454_23915472del	(Likely) pathogenic	1 lab	df68751346
21:44488629 CBS C>G	21	44488629	44488629	C	G	CBS	c.306G>C	NM_000071.3	NP_000062.1:p.(Lys102Asn)	NC_000021.8:g.44488629C>G	(Likely) benign	1 lab	df6921cd7a
14:76427492 TGFB3 T>G	14	76427492	76427492	T	G	TGFB3	c.927-73A>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76427492T>G	(Likely) benign	1 lab	df69e3a5be
10:53822362 PRKG1 A>C	10	53822362	53822362	A	C	PRKG1	c.861A>C	NM_001098512.3	NP_001091982.1:p.(Gly287=)	NC_000010.10:g.53822362A>C	(Likely) benign	1 lab	df6d8b1a48
13:50761991 MISSING T>Alt too long to show for this DUP	13	50761991	51646739	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.50761992_51646739dup	VUS	1 lab	df704b5d2d
9:135139785 SETX C>T	9	135139785	135139785	C	T	SETX	c.7875G>A	NM_001351527.2	NP_001338456.1:p.(Pro2625=)	NC_000009.11:g.135139785C>T	(Likely) benign	1 lab	df721f4071
21:47422621 COL6A1 A>G	21	47422621	47422621	A	G	COL6A1	c.2431A>G	NM_001848.3	NP_001839.2:p.(Ile811Val)	NC_000021.8:g.47422621A>G	(Likely) benign	1 lab	df7478262b
14:23902897 MYH7 G>A	14	23902897	23902897	G	A	MYH7	c.45C>T	NM_000257.4	NP_000248.2:p.(Tyr15=)	NC_000014.8:g.23902897G>A	(Likely) benign	1 lab	df7c0d62be
7:110451349 IMMP2L Ref too long to show for this DEL>A	7	110451349	110636235	Ref too long to show for this DEL	A	IMMP2L	c.240-32613_408+75299del	NM_032549.4	NP_115938.1:p.?	NC_000007.13:g.110451351_110636235del	VUS	1 lab	df7e395926
16:29652998 MISSING G>Alt too long to show for this DUP	16	29652998	30199059	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.29652999_30199059dup	(Likely) pathogenic	1 lab	dfd312132d
11:27679685 BDNF T>C	11	27679685	27679685	T	C	BDNF	c.427A>G	NM_170735.6	NP_733931.1:p.(Ser143Gly)	NC_000011.9:g.27679685T>C	VUS	1 lab	e125e2614f
16:78366342 WWOX Ref too long to show for this DEL>G	16	78366342	78445631	Ref too long to show for this DEL	G	WWOX	c.517-54413_606-13136del	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78366344_78445631del	VUS	1 lab	df813cfb6c
16:77393214 ADAMTS18 C>G	16	77393214	77393214	C	G	ADAMTS18	c.1322+1G>C	NM_199355.4	NP_955387.1:p.?	NC_000016.9:g.77393214C>G	(Likely) pathogenic	1 lab	df8338ee52
11:87917796 MISSING Ref too long to show for this DEL>A	11	87917796	94884959	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.87917801_94884959del	(Likely) pathogenic	1 lab	df87859c6c
16:3090509 MISSING Ref too long to show for this DEL>C	16	3090509	3154950	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.3090511_3154950del	VUS	1 lab	df890d5ee1
16:31193983 FUS A>G	16	31193983	31193983	A	G	FUS	c.188A>G	NM_004960.4	NP_004951.1:p.(Asn63Ser)	NC_000016.9:g.31193983A>G	(Likely) benign	1 lab	df8ad027ff
2:179582060 TTN A>C	2	179582060	179582060	A	C	TTN	c.25401T>G	NM_001267550.2	NP_001254479.2:p.(Leu8467=)	NC_000002.11:g.179582060A>C	(Likely) benign	1 lab	df8d62d8bf
12:125299634 SCARB1 G>A	12	125299634	125299634	G	A	SCARB1	c.311C>T	NM_001367981.1	NP_001354910.1:p.(Thr104Ile)	NC_000012.11:g.125299634G>A	VUS	1 lab	df8ececd53
9:107607818 ABCA1 G>C	9	107607818	107607818	G	C	ABCA1	c.753C>G	NM_005502.4	NP_005493.2:p.(Ser251Arg)	NC_000009.11:g.107607818G>C	VUS	1 lab	df90815df4
22:50657225 TUBGCP6 G>A	22	50657225	50657225	G	A	TUBGCP6	c.4728C>T	NM_020461.4	NP_065194.3:p.(His1576=)	NC_000022.10:g.50657225G>A	(Likely) benign	1 lab	df90f6fc74
19:55286861 KIR2DL1 T>A	19	55286861	55286861	T	A	KIR2DL1	c.615T>A	NM_014218.3	NP_055033.2:p.(Ser205=)	NC_000019.9:g.55286861T>A	(Likely) benign	1 lab	df92c9fad3
18:34267078 FHOD3 A>G	18	34267078	34267078	A	G	FHOD3	c.1971-13A>G	NM_001281740.3	NP_001268669.1:p.?	NC_000018.9:g.34267078A>G	(Likely) benign	1 lab	df943e3e7d
19:50521330 MISSING G>Alt too long to show for this DUP	19	50521330	50585860	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.50521332_50585860dup	VUS	1 lab	df990b8017
19:45412244 APOE C>T	19	45412244	45412244	C	T	APOE	c.769C>T	NM_001302688.2	NP_001289617.1:p.(Arg257Trp)	NC_000019.9:g.45412244C>T	VUS	1 lab	df9d330f57
10:13158257 OPTN G>A	10	13158257	13158257	G	A	OPTN	c.553-10G>A	NM_001008211.1	NP_001008212.1:p.?	NC_000010.10:g.13158257G>A	(Likely) benign	1 lab	df9e093f7b
11:68675796 IGHMBP2 G>A	11	68675796	68675796	G	A	IGHMBP2	c.440G>A	NM_002180.3	NP_002171.2:p.(Arg147Gln)	NC_000011.9:g.68675796G>A	VUS	1 lab	dfa488378d
19:11223684 LDLR T>G	19	11223684	11223684	T	G	LDLR	c.1187-270T>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223684T>G	(Likely) benign	1 lab	dfab359e49
3:38592151 SCN5A C>T	3	38592151	38592151	C	T	SCN5A	c.5712G>A	NM_198056.3	NP_932173.1:p.(Ser1904=)	NC_000003.11:g.38592151C>T	(Likely) benign	1 lab	dfb6d57b06
19:13373594 CACNA1A C>T	19	13373594	13373594	C	T	CACNA1A	c.4055G>A	NM_023035.3	NP_075461.2:p.(Arg1352Gln)	NC_000019.9:g.13373594C>T	(Likely) pathogenic	1 lab	dfb7861f4d
3:129325051 PLXND1 G>A	3	129325051	129325051	G	A	PLXND1	c.432C>T	NM_015103.3	NP_055918.3:p.(Tyr144=)	NC_000003.11:g.129325051G>A	(Likely) benign	1 lab	dfc2810ac4
5:139494136 PURA C>A	5	139494136	139494136	C	A	PURA	c.370C>A	NM_005859.5	NP_005850.1:p.(Leu124Met)	NC_000005.9:g.139494136C>A	(Likely) benign	1 lab	dfc33dbd5e
11:77813997 ALG8 C>CA	11	77813997	77814015	C	CA	ALG8	c.1350-4dup	NM_001007027.3	NP_001007028.1:p.?	NC_000011.9:g.77814015dup	(Likely) benign	1 lab	dfc3cf01cc
9:137727016 COL5A1 A>AC	9	137727016	137727020	A	AC	COL5A1	c.5340dup	NM_000093.5	NP_000084.3:p.(Tyr1781LeufsTer39)	NC_000009.11:g.137727020dup	(Likely) pathogenic	1 lab	dfc417355a
11:116703616 APOC3 A>G	11	116703616	116703616	A	G	APOC3	c.*16A>G	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116703616A>G	(Likely) benign	1 lab	dfc7fac0a8
8:141070841 TRAPPC9 Ref too long to show for this DEL>T	8	141070841	141150663	Ref too long to show for this DEL	T	TRAPPC9	c.2556+80896_2557-36666del	NM_001160372.4	NP_001153844.1:p.?	NC_000008.10:g.141070843_141150663del	VUS	1 lab	dfc8c4c209
10:89624241 PTEN CAAAG>C	10	89624241	89624246	CAAAG	C	PTEN	c.17_20del	NM_000314.8	NP_000305.3:p.(Lys6ArgfsTer17)	NC_000010.10:g.89624243_89624246del	(Likely) pathogenic	1 lab	dfcb664413
1:156837957 NTRK1 G>T	1	156837957	156837957	G	T	NTRK1	c.490G>T	NM_002529.4	NP_002520.2:p.(Glu164Ter)	NC_000001.10:g.156837957G>T	(Likely) pathogenic	1 lab	dfcb860a58
8:41791609 KAT6A G>A	8	41791609	41791609	G	A	KAT6A	c.4129C>T	NM_006766.5	NP_006757.2:p.(Gln1377Ter)	NC_000008.10:g.41791609G>A	(Likely) pathogenic	1 lab	dfcddd339d
6:56426242 DST T>C	6	56426242	56426242	T	C	DST	c.7817A>G	NM_001144769.5	NP_001138241.1:p.(Lys2606Arg)	NC_000006.11:g.56426242T>C	(Likely) benign	1 lab	dfd01390da
1:55505552 PCSK9 A>ACTGCTG	1	55505552	55505575	A	ACTGCTG	PCSK9	c.60_65dup	NM_174936.4	NP_777596.2:p.(Leu22_Leu23dup)	NC_000001.10:g.55505570_55505575dup	(Likely) benign	1 lab	dfd7677a5e
15:85401093 ALPK3 G>A	15	85401093	85401093	G	A	ALPK3	c.3124G>A	NM_020778.5	NP_065829.4:p.(Gly1042Ser)	NC_000015.9:g.85401093G>A	VUS	1 lab	dfd83c96f6
7:107545967 DLD T>C	7	107545967	107545967	T	C	DLD	c.582+18T>C	NM_000108.5	NP_000099.2:p.?	NC_000007.13:g.107545967T>C	(Likely) benign	1 lab	dfd9b0419c
2:48028285 MSH6 G>A	2	48028285	48028285	G	A	MSH6	c.3163G>A	NM_000179.3	NP_000170.1:p.(Ala1055Thr)	NC_000002.11:g.48028285G>A	VUS	1 lab	dfdbfb4c66
1:216243491 USH2A G>A	1	216243491	216243491	G	A	USH2A	c.6001C>T	NM_206933.4	NP_996816.3:p.(Arg2001Cys)	NC_000001.10:g.216243491G>A	VUS	1 lab	dfdc352043
2:106002810 FHL2 G>A	2	106002810	106002810	G	A	FHL2	c.156+8C>T	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.106002810G>A	(Likely) benign	1 lab	dfe6910074
11:68201225 LRP5 C>T	11	68201225	68201225	C	T	LRP5	c.3919C>T	NM_002335.4	NP_002326.2:p.(Arg1307Trp)	NC_000011.9:g.68201225C>T	VUS	1 lab	dfe7495a4c
7:75547886 MISSING Ref too long to show for this DEL>G	7	75547886	77545464	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.75547889_77545464del	(Likely) pathogenic	1 lab	dfe947faa4
X:70443886 GJB1 G>A	X	70443886	70443886	G	A	GJB1	c.329G>A	NM_000166.6	NP_000157.1:p.(Gly110Asp)	NC_000023.10:g.70443886G>A	(Likely) pathogenic	1 lab	dfebc6bdbe
12:33030872 PKP2 C>A	12	33030872	33030872	C	A	PKP2	c.942G>T	NM_004572.4	NP_004563.2:p.(Gly314=)	NC_000012.11:g.33030872C>A	(Likely) benign	1 lab	dff29b4818
14:23885473 MYH7 A>C	14	23885473	23885473	A	C	MYH7	c.4693T>G	NM_000257.4	NP_000248.2:p.(Phe1565Val)	NC_000014.8:g.23885473A>C	VUS	1 lab	dff3c32b83
1:161276542 MPZ A>G	1	161276542	161276542	A	G	MPZ	c.404T>C	NM_000530.8	NP_000521.2:p.(Ile135Thr)	NC_000001.10:g.161276542A>G	(Likely) pathogenic	1 lab	dff500f85c
11:116701907 APOC3 TTCTTTCTTTC>T	11	116701907	116701918	TTCTTTCTTTC	T	APOC3	c.179+297_179+306del	NM_000040.3	NP_000031.1:p.?	NC_000011.9:g.116701909_116701918del	(Likely) benign	1 lab	dff75b88ac
7:151267298 PRKAG2 T>C	7	151267298	151267298	T	C	PRKAG2	c.1065A>G	NM_016203.4	NP_057287.2:p.(Gln355=)	NC_000007.13:g.151267298T>C	VUS	1 lab	e000d18cf9
11:47355927 MYBPC3 A>G	11	47355927	47355927	A	G	MYBPC3	c.2906-366T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355927A>G	(Likely) benign	1 lab	e0014a03a8
2:20130298 WDR35 C>A	2	20130298	20130298	C	A	WDR35	c.3013G>T	NM_001006657.2	NP_001006658.1:p.(Ala1005Ser)	NC_000002.11:g.20130298C>A	VUS	1 lab	e0028df211
2:21266720 APOB G>A	2	21266720	21266720	G	A	APOB	c.82+16C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21266720G>A	(Likely) benign	1 lab	e0040310f8
20:57415690 GNAS C>T	20	57415690	57415690	C	T	GNAS	c.529C>T	NM_016592.5	NP_057676.1:p.(Arg177Cys)	NC_000020.10:g.57415690C>T	(Likely) benign	1 lab	e00a232fa2
3:119101132 ARHGAP31 A>G	3	119101132	119101132	A	G	ARHGAP31	c.432-7A>G	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119101132A>G	(Likely) benign	1 lab	e014fee154
2:179463762 TTN G>T	2	179463762	179463762	G	T	TTN	c.56675C>A	NM_001267550.2	NP_001254479.2:p.(Thr18892Lys)	NC_000002.11:g.179463762G>T	VUS	1 lab	e019b48d16
1:237972254 RYR2 G>A	1	237972254	237972254	G	A	RYR2	c.14352G>A	NM_001035.3	NP_001026.2:p.(Val4784=)	NC_000001.10:g.237972254G>A	(Likely) benign	1 lab	e01b8253b8
20:31998219 SNTA1 G>A	20	31998219	31998219	G	A	SNTA1	c.1041-82C>T	NM_003098.3	NP_003089.1:p.?	NC_000020.10:g.31998219G>A	(Likely) benign	1 lab	e02004f218
6:10809192 MAK GA>G	6	10809192	10809201	GA	G	MAK	c.359-18del	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10809201del	(Likely) benign	1 lab	e023bb5e30
3:46010029 FYCO1 GCTGCCCTCAGCTCCTGGTT>G	3	46010029	46010050	GCTGCCCTCAGCTCCTGGTT	G	FYCO1	c.778_796del	NM_024513.4	NP_078789.2:p.(Asn260LeufsTer30)	NC_000003.11:g.46010032_46010050del	(Likely) pathogenic	1 lab	e025131037
16:67976633 LCAT T>C	16	67976633	67976633	T	C	LCAT	c.464A>G	NM_000229.2	NP_000220.1:p.(Asn155Ser)	NC_000016.9:g.67976633T>C	VUS	1 lab	e029a2f627
1:78408518 NEXN C>T	1	78408518	78408518	C	T	NEXN	c.*4C>T	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78408518C>T	(Likely) benign	1 lab	e02be06027
11:64575158 MEN1 G>A	11	64575158	64575158	G	A	MEN1	c.670-6C>T	NM_000244.3	NP_000235.2:p.?	NC_000011.9:g.64575158G>A	(Likely) benign	1 lab	e07626da53
19:11223982 LDLR C>G	19	11223982	11223982	C	G	LDLR	c.1215C>G	NM_000527.5	NP_000518.1:p.(Asn405Lys)	NC_000019.9:g.11223982C>G	(Likely) pathogenic	1 lab	e02e16c619
4:73181564 ADAMTS3 G>T	4	73181564	73181564	G	T	ADAMTS3	c.1599+11C>A	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73181564G>T	(Likely) benign	1 lab	e03b881c90
2:179457988 TTN C>A	2	179457988	179457988	C	A	TTN	c.58947G>T	NM_001267550.2	NP_001254479.2:p.(Gln19649His)	NC_000002.11:g.179457988C>A	VUS	1 lab	e03dea8bc9
2:179613375 TTN TTTTA>T	2	179613375	179613382	TTTTA	T	TTN	c.13748_13751del	NM_133379.5	NP_596870.2:p.(Ile4583AsnfsTer5)	NC_000002.11:g.179613379_179613382del	VUS	1 lab	e03f6ed3b2
12:109994886 MMAB G>A	12	109994886	109994886	G	A	MMAB	c.700C>T	NM_052845.4	NP_443077.1:p.(Gln234Ter)	NC_000012.11:g.109994886G>A	(Likely) pathogenic	1 lab	e04623156d
2:44040290 ABCG5 C>G	2	44040290	44040290	C	G	ABCG5	c.1921G>C	NM_022436.3	NP_071881.1:p.(Val641Leu)	NC_000002.11:g.44040290C>G	VUS	1 lab	e04769c8d6
19:54697134 TSEN34 G>A	19	54697134	54697134	G	A	TSEN34	c.850G>A	NM_001282332.2	NP_001269261.1:p.(Val284Ile)	NC_000019.9:g.54697134G>A	VUS	1 lab	e0541e71be
4:100527961 MTTP A>G	4	100527961	100527961	A	G	MTTP	c.1401A>G	NM_000253.4	NP_000244.2:p.(Lys467=)	NC_000004.11:g.100527961A>G	(Likely) benign	1 lab	e05ea35053
20:10393956 MKKS G>A	20	10393956	10393956	G	A	MKKS	c.207C>T	NM_018848.3	NP_061336.1:p.(Val69=)	NC_000020.10:g.10393956G>A	(Likely) benign	1 lab	e060c34bcb
4:119644815 SEC24D GA>G	4	119644815	119644825	GA	G	SEC24D	c.2959-6del	NM_014822.4	NP_055637.2:p.?	NC_000004.11:g.119644825del	(Likely) benign	1 lab	e062ee0837
10:67680114 CTNNA3 C>A	10	67680114	67680114	C	A	CTNNA3	c.2662G>T	NM_013266.4	NP_037398.2:p.(Glu888Ter)	NC_000010.10:g.67680114C>A	VUS	1 lab	e063871806
14:50101222 DNAAF2 C>A	14	50101222	50101222	C	A	DNAAF2	c.646G>T	NM_018139.3	NP_060609.2:p.(Glu216Ter)	NC_000014.8:g.50101222C>A	(Likely) pathogenic	1 lab	e06ced5da3
8:18164843 MISSING G>Alt too long to show for this DUP	8	18164843	18644064	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.18164844_18644064dup	VUS	1 lab	e0926e0511
X:135290792 FHL1 C>A	X	135290792	135290792	C	A	FHL1	c.680C>A	NM_001159704.1	NP_001153176.1:p.(Pro227His)	NC_000023.10:g.135290792C>A	VUS	1 lab	e081b1a812
15:99383297 MISSING T>Alt too long to show for this DUP	15	99383297	99742560	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.99383298_99742560dup	VUS	1 lab	e08226df8b
1:161277098 MPZ T>A	1	161277098	161277098	T	A	MPZ	c.184A>T	NM_000530.8	NP_000521.2:p.(Ile62Phe)	NC_000001.10:g.161277098T>A	(Likely) pathogenic	1 lab	e08600f6a6
15:35149313 AQR T>TA	15	35149313	35149326	T	TA	AQR	c.4144-7dup	NM_014691.3	NP_055506.1:p.?	NC_000015.9:g.35149326dup	(Likely) benign	1 lab	e087222bcd
1:238724113 MISSING Ref too long to show for this DEL>G	1	238724113	241293583	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.238724114_241293583del	(Likely) pathogenic	1 lab	e089a2e966
6:30954378 MUC21 A>AGTGTCCAGTAGGGCCAGC	6	30954378	30954379	A	AGTGTCCAGTAGGGCCAGC	MUC21	c.426_427insGTGTCCAGTAGGGCCAGC	NM_001010909.5	NP_001010909.2:p.(Thr142_Thr143insValSerSerArgAlaSer)	NC_000006.11:g.30954378_30954379insGTGTCCAGTAGGGCCAGC	(Likely) benign	1 lab	e089f11ac5
6:84772716 MRAP2 G>C	6	84772716	84772716	G	C	MRAP2	c.227+5G>C	NM_138409.4	NP_612418.2:p.?	NC_000006.11:g.84772716G>C	VUS	1 lab	e08c70cf8f
15:31210485 FAN1 C>T	15	31210485	31210485	C	T	FAN1	c.1930C>T	NM_014967.5	NP_055782.3:p.(His644Tyr)	NC_000015.9:g.31210485C>T	VUS	1 lab	e091269d3a
12:122268031 SETD1B G>A	12	122268031	122268031	G	A	SETD1B	c.5787G>A	NM_001353345.2	NP_001340274.1:p.(Ser1929=)	NC_000012.11:g.122268031G>A	(Likely) benign	1 lab	e09360254a
3:57911641 SLMAP G>A	3	57911641	57911641	G	A	SLMAP	c.1066G>A	NM_001311178.2	NP_001298107.1:p.(Gly356Ser)	NC_000003.11:g.57911641G>A	VUS	1 lab	e09770cb0d
2:21230660 APOB C>T	2	21230660	21230660	C	T	APOB	c.9080G>A	NM_000384.3	NP_000375.3:p.(Gly3027Glu)	NC_000002.11:g.21230660C>T	(Likely) benign	1 lab	e099ba295e
16:14877685 MISSING Ref too long to show for this DEL>C	16	14877685	16362707	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.14877687_16362707del	(Likely) pathogenic	1 lab	e09adad546
1:237905619 RYR2 C>T	1	237905619	237905619	C	T	RYR2	c.11115C>T	NM_001035.3	NP_001026.2:p.(Asp3705=)	NC_000001.10:g.237905619C>T	(Likely) benign	1 lab	e09ba1b7d6
16:88495597 ZNF469 C>T	16	88495597	88495597	C	T	ZNF469	c.1719C>T	NM_001367624.2	NP_001354553.1:p.(His573=)	NC_000016.9:g.88495597C>T	(Likely) benign	1 lab	e09f08dcd1
9:137630938 COL5A1 C>T	9	137630938	137630938	C	T	COL5A1	c.1494+284C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630938C>T	(Likely) benign	1 lab	e0a36d5b69
16:67973938 LCAT C>T	16	67973938	67973938	C	T	LCAT	c.1192G>A	NM_000229.2	NP_000220.1:p.(Gly398Arg)	NC_000016.9:g.67973938C>T	VUS	1 lab	e0a57b123a
15:48729201 FBN1 G>A	15	48729201	48729201	G	A	FBN1	c.6453C>T	NM_000138.5	NP_000129.3:p.(Cys2151=)	NC_000015.9:g.48729201G>A	(Likely) pathogenic	1 lab	e0a5cdd836
1:12414100 VPS13D A>G	1	12414100	12414100	A	G	VPS13D	c.9501A>G	NM_015378.4	NP_056193.2:p.(Ala3167=)	NC_000001.10:g.12414100A>G	(Likely) benign	1 lab	e0a881697e
3:38662328 SCN5A A>T	3	38662328	38662328	A	T	SCN5A	c.611+6T>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38662328A>T	VUS	1 lab	e0a971bf2f
2:25972653 ASXL2 C>T	2	25972653	25972653	C	T	ASXL2	c.1772G>A	NM_018263.6	NP_060733.4:p.(Arg591His)	NC_000002.11:g.25972653C>T	(Likely) benign	1 lab	e0aafebf56
15:31210427 FAN1 G>C	15	31210427	31210427	G	C	FAN1	c.1872G>C	NM_014967.5	NP_055782.3:p.(Trp624Cys)	NC_000015.9:g.31210427G>C	VUS	1 lab	e0bc0d7f13
2:179435806 TTN A>G	2	179435806	179435806	A	G	TTN	c.75053T>C	NM_001267550.2	NP_001254479.2:p.(Val25018Ala)	NC_000002.11:g.179435806A>G	VUS	1 lab	e0beba9c25
5:148406414 SH3TC2 C>T	5	148406414	148406414	C	T	SH3TC2	c.2872+9G>A	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148406414C>T	(Likely) benign	1 lab	e0c96a8d4b
11:130777411 MISSING Ref too long to show for this DEL>C	11	130777411	130879015	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.130777412_130879015del	VUS	1 lab	e0d72648ad
19:10106936 COL5A3 G>C	19	10106936	10106936	G	C	COL5A3	c.1425C>G	NM_015719.4	NP_056534.2:p.(Leu475=)	NC_000019.9:g.10106936G>C	(Likely) benign	1 lab	e0df122813
2:32366959 SPAST AT>A	2	32366959	32366970	AT	A	SPAST	c.1494-3del	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32366970del	(Likely) benign	1 lab	e0e325c5c4
20:31021611 ASXL1 AAAAG>A	20	31021611	31021617	AAAAG	A	ASXL1	c.1613_1616del	NM_015338.6	NP_056153.2:p.(Lys538SerfsTer164)	NC_000020.10:g.31021614_31021617del	(Likely) pathogenic	1 lab	e0e4cb1360
6:100896573 SIM1 G>A	6	100896573	100896573	G	A	SIM1	c.544-19C>T	NM_005068.3	NP_005059.2:p.?	NC_000006.11:g.100896573G>A	(Likely) benign	1 lab	e0e8bc4e61
12:2774063 CACNA1C C>T	12	2774063	2774063	C	T	CACNA1C	c.4449C>T	NM_199460.4	NP_955630.3:p.(Ser1483=)	NC_000012.11:g.2774063C>T	(Likely) benign	1 lab	e0f127ea96
3:57994597 FLNB C>G	3	57994597	57994597	C	G	FLNB	c.292+14C>G	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.57994597C>G	(Likely) benign	1 lab	e0f1f58820
19:11216146 LDLR CG>C	19	11216146	11216147	CG	C	LDLR	c.565del	NM_000527.5	NP_000518.1:p.(Val189CysfsTer17)	NC_000019.9:g.11216147del	(Likely) pathogenic	1 lab	e0f31cce5a
1:179877780 TOR1AIP1 A>C	1	179877780	179877780	A	C	TOR1AIP1	c.882A>C	NM_001267578.2	NP_001254507.1:p.(Gln294His)	NC_000001.10:g.179877780A>C	(Likely) benign	1 lab	e0f70617af
3:38739763 SCN10A T>A	3	38739763	38739763	T	A	SCN10A	c.4948A>T	NM_006514.4	NP_006505.4:p.(Ser1650Cys)	NC_000003.11:g.38739763T>A	VUS	1 lab	e101828cc0
20:47569311 ARFGEF2 A>G	20	47569311	47569311	A	G	ARFGEF2	c.493A>G	NM_006420.3	NP_006411.2:p.(Thr165Ala)	NC_000020.10:g.47569311A>G	VUS	1 lab	e10251d399
1:151377769 POGZ T>G	1	151377769	151377769	T	G	POGZ	c.3742A>C	NM_015100.4	NP_055915.2:p.(Thr1248Pro)	NC_000001.10:g.151377769T>G	VUS	1 lab	e102adf981
11:111782365 CRYAB G>A	11	111782365	111782365	G	A	CRYAB	c.84C>T	NM_001885.3	NP_001876.1:p.(Phe28=)	NC_000011.9:g.111782365G>A	(Likely) benign	1 lab	e105cdb756
6:112506517 LAMA4 G>A	6	112506517	112506517	G	A	LAMA4	c.978C>T	NM_002290.5	NP_002281.3:p.(Ala326=)	NC_000006.11:g.112506517G>A	(Likely) benign	1 lab	e1095f66e7
2:179440401 TTN G>C	2	179440401	179440401	G	C	TTN	c.70458C>G	NM_001267550.2	NP_001254479.2:p.(Thr23486=)	NC_000002.11:g.179440401G>C	(Likely) benign	1 lab	e10af9c905
12:125298952 SCARB1 C>A	12	125298952	125298952	C	A	SCARB1	c.427-1G>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125298952C>A	VUS	1 lab	e10fae5b28
11:68184231 LRP5 G>T	11	68184231	68184231	G	T	LRP5	c.3027+236G>T	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68184231G>T	(Likely) benign	1 lab	e111dfef74
2:179395912 TTN C>T	2	179395912	179395912	C	T	TTN	c.105430G>A	NM_001267550.2	NP_001254479.2:p.(Glu35144Lys)	NC_000002.11:g.179395912C>T	VUS	1 lab	e11547816b
4:52903469 MISSING T>Alt too long to show for this DUP	4	52903469	53219120	T	Alt too long to show for this DUP	MISSING				NC_000004.11:g.52903470_53219120dup	VUS	1 lab	e115b1fca8
11:76908663 MYO7A G>T	11	76908663	76908663	G	T	MYO7A	c.4441+20G>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76908663G>T	(Likely) benign	1 lab	e115ddef73
16:69832622 WWP2 T>G	16	69832622	69832622	T	G	WWP2	c.108T>G	NM_007014.5	NP_008945.2:p.(Pro36=)	NC_000016.9:g.69832622T>G	(Likely) benign	1 lab	e1229ffabf
7:70250953 AUTS2 G>A	7	70250953	70250953	G	A	AUTS2	c.2165G>A	NM_001127231.3	NP_001120703.1:p.(Arg722Gln)	NC_000007.13:g.70250953G>A	VUS	1 lab	e12942b306
9:107579633 ABCA1 T>C	9	107579633	107579633	T	C	ABCA1	c.3515A>G	NM_005502.4	NP_005493.2:p.(Glu1172Gly)	NC_000009.11:g.107579633T>C	(Likely) benign	1 lab	e12c5f3dae
X:54491965 FGD1 G>A	X	54491965	54491965	G	A	FGD1	c.1555C>T	NM_004463.3	NP_004454.2:p.(Arg519Cys)	NC_000023.10:g.54491965G>A	(Likely) pathogenic	1 lab	e1319a8d82
12:122243905 SETD1B C>T	12	122243905	122243905	C	T	SETD1B	c.438C>T	NM_001353345.2	NP_001340274.1:p.(Ile146=)	NC_000012.11:g.122243905C>T	(Likely) benign	1 lab	e132a7b4dd
9:27212856 TEK C>T	9	27212856	27212856	C	T	TEK	c.2838C>T	NM_000459.5	NP_000450.3:p.(Ala946=)	NC_000009.11:g.27212856C>T	(Likely) benign	1 lab	e132e6fb30
18:47091704 LIPG A>C	18	47091704	47091704	A	C	LIPG	c.115A>C	NM_006033.4	NP_006024.1:p.(Lys39Gln)	NC_000018.9:g.47091704A>C	(Likely) benign	1 lab	e1393ae6a4
9:35068286 VCP C>T	9	35068286	35068286	C	T	VCP	c.91G>A	NM_007126.5	NP_009057.1:p.(Ala31Thr)	NC_000009.11:g.35068286C>T	VUS	1 lab	e1f11ad14b
15:45389838 DUOX2 G>C	15	45389838	45389838	G	C	DUOX2	c.3667C>G	NM_014080.5	NP_054799.4:p.(His1223Asp)	NC_000015.9:g.45389838G>C	(Likely) benign	1 lab	e13e72f11b
2:21227517 APOB G>A	2	21227517	21227517	G	A	APOB	c.11819C>T	NM_000384.3	NP_000375.3:p.(Thr3940Met)	NC_000002.11:g.21227517G>A	(Likely) benign	1 lab	e1400f8f0b
20:50407797 SALL4 GTC>G	20	50407797	50407805	GTC	G	SALL4	c.1223_1224del	NM_020436.5	NP_065169.1:p.(Arg408ThrfsTer55)	NC_000020.10:g.50407804_50407805del	(Likely) pathogenic	1 lab	e149133dc1
2:223657796 MISSING Ref too long to show for this DEL>G	2	223657796	229729770	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.223657798_229729770del	(Likely) pathogenic	1 lab	e14d9a8bb7
5:178557107 ADAMTS2 T>C	5	178557107	178557107	T	C	ADAMTS2	c.2291-8A>G	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178557107T>C	(Likely) benign	1 lab	e14fb6f5f7
7:117232389 CFTR G>T	7	117232389	117232389	G	T	CFTR	c.2168G>T	NM_000492.4	NP_000483.3:p.(Gly723Val)	NC_000007.13:g.117232389G>T	VUS	1 lab	e1506759d6
15:89828362 FANCI C>T	15	89828362	89828362	C	T	FANCI	c.1734C>T	NM_001113378.2	NP_001106849.1:p.(Val578=)	NC_000015.9:g.89828362C>T	(Likely) benign	1 lab	e15097323e
7:128482626 FLNC C>T	7	128482626	128482626	C	T	FLNC	c.2266-3C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128482626C>T	(Likely) benign	1 lab	e1567711d8
12:125284709 SCARB1 A>G	12	125284709	125284709	A	G	SCARB1	c.1089T>C	NM_001367981.1	NP_001354910.1:p.(Pro363=)	NC_000012.11:g.125284709A>G	(Likely) benign	1 lab	e159066bd0
X:153492789 OPN1MW2 G>T	X	153492789	153492789	G	T	OPN1MW2	c.538G>T	NM_001048181.2	NP_001041646.1:p.(Ala180Ser)	NC_000023.10:g.153492789G>T	(Likely) benign	1 lab	e15a65c985
16:28880612 SH2B1 G>A	16	28880612	28880612	G	A	SH2B1	c.1217G>A	NM_015503.3	NP_056318.2:p.(Ser406Asn)	NC_000016.9:g.28880612G>A	VUS	1 lab	e15d15f38b
11:108129783 ATM C>T	11	108129783	108129783	C	T	ATM	c.2447C>T	NM_000051.4	NP_000042.3:p.(Ala816Val)	NC_000011.9:g.108129783C>T	VUS	1 lab	e15fe8bce5
X:24545781 PDK3 T>C	X	24545781	24545781	T	C	PDK3	c.841T>C	NM_001142386.3	NP_001135858.1:p.(Leu281=)	NC_000023.10:g.24545781T>C	(Likely) benign	1 lab	e16193ac74
11:1017318 MUC6 G>A	11	1017318	1017318	G	A	MUC6	c.5483C>T	NM_005961.3	NP_005952.2:p.(Thr1828Ile)	NC_000011.9:g.1017318G>A	(Likely) benign	1 lab	e164760ed2
9:107573154 ABCA1 C>T	9	107573154	107573154	C	T	ABCA1	c.4102G>A	NM_005502.4	NP_005493.2:p.(Val1368Met)	NC_000009.11:g.107573154C>T	VUS	1 lab	e165d6d8d2
14:21762903 RPGRIP1 T>C	14	21762903	21762903	T	C	RPGRIP1	c.153T>C	NM_020366.4	NP_065099.3:p.(Phe51=)	NC_000014.8:g.21762903T>C	(Likely) benign	1 lab	e167e35975
9:107588128 ABCA1 T>C	9	107588128	107588128	T	C	ABCA1	c.2378A>G	NM_005502.4	NP_005493.2:p.(Tyr793Cys)	NC_000009.11:g.107588128T>C	VUS	1 lab	e16d535dff
15:28116336 OCA2 C>A	15	28116336	28116336	C	A	OCA2	c.2208G>T	NM_000275.3	NP_000266.2:p.(Ser736=)	NC_000015.9:g.28116336C>A	(Likely) benign	1 lab	e16fd482e1
5:7885959 MTRR A>G	5	7885959	7885959	A	G	MTRR	c.1049A>G	NM_002454.3	NP_002445.2:p.(Lys350Arg)	NC_000005.9:g.7885959A>G	(Likely) benign	1 lab	e1754aedc7
6:56420624 DST T>C	6	56420624	56420624	T	C	DST	c.14655A>G	NM_001374736.1	NP_001361665.1:p.(Glu4885=)	NC_000006.11:g.56420624T>C	(Likely) benign	1 lab	e1875841bc
15:48736744 FBN1 A>G	15	48736744	48736744	A	G	FBN1	c.6031T>C	NM_000138.5	NP_000129.3:p.(Cys2011Arg)	NC_000015.9:g.48736744A>G	(Likely) pathogenic	1 lab	e189a6b2e6
9:137534350 COL5A1 C>T	9	137534350	137534350	C	T	COL5A1	c.109+208C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137534350C>T	(Likely) benign	1 lab	e194323a2c
10:112540989 RBM20 G>A	10	112540989	112540989	G	A	RBM20	c.622G>A	NM_001134363.3	NP_001127835.2:p.(Gly208Ser)	NC_000010.10:g.112540989G>A	VUS	1 lab	e199566312
1:103444107 COL11A1 A>C	1	103444107	103444107	A	C	COL11A1	c.2790+157T>G	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103444107A>C	(Likely) benign	1 lab	e19c63f811
2:179586971 TTN G>A	2	179586971	179586971	G	A	TTN	c.22528+15C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179586971G>A	(Likely) benign	1 lab	e19cd3056c
3:9793529 OGG1 G>A	3	9793529	9793529	G	A	OGG1	c.461G>A	NM_016821.3	NP_058214.1:p.(Arg154His)	NC_000003.11:g.9793529G>A	VUS	1 lab	e19e252e32
18:29122673 DSG2 A>C	18	29122673	29122673	A	C	DSG2	c.2192A>C	NM_001943.5	NP_001934.2:p.(Gln731Pro)	NC_000018.9:g.29122673A>C	VUS	1 lab	e1aa733985
2:189858961 COL3A1 G>A	2	189858961	189858961	G	A	COL3A1	c.1196G>A	NM_000090.4	NP_000081.2:p.(Gly399Asp)	NC_000002.11:g.189858961G>A	(Likely) pathogenic	1 lab	e1ac732334
4:79430007 FRAS1 C>T	4	79430007	79430007	C	T	FRAS1	c.9627C>T	NM_025074.7	NP_079350.5:p.(Tyr3209=)	NC_000004.11:g.79430007C>T	(Likely) benign	1 lab	e1b4717f53
1:78399092 NEXN A>C	1	78399092	78399092	A	C	NEXN	c.1179A>C	NM_144573.4	NP_653174.3:p.(Thr393=)	NC_000001.10:g.78399092A>C	(Likely) benign	1 lab	e1bd0f8be2
7:116397669 MET T>C	7	116397669	116397669	T	C	MET	c.1966-23T>C	NM_001127500.3	NP_001120972.1:p.?	NC_000007.13:g.116397669T>C	(Likely) benign	1 lab	e1c37fd01d
10:91005435 LIPA T>C	10	91005435	91005435	T	C	LIPA	c.227A>G	NM_000235.4	NP_000226.2:p.(Lys76Arg)	NC_000010.10:g.91005435T>C	(Likely) benign	1 lab	e1c596cbf4
16:72138380 DHX38 C>T	16	72138380	72138380	C	T	DHX38	c.2011-5C>T	NM_014003.4	NP_054722.2:p.?	NC_000016.9:g.72138380C>T	(Likely) benign	1 lab	e4cf6cd5f1
6:30954470 MUC21 C>T	6	30954470	30954470	C	T	MUC21	c.518C>T	NM_001010909.5	NP_001010909.2:p.(Thr173Ile)	NC_000006.11:g.30954470C>T	(Likely) benign	1 lab	e1c8fecd4f
4:88533163 DSPP TTGTGTGTG>T	4	88533163	88533193	TTGTGTGTG	T	DSPP	c.52-71_52-64del	NM_014208.3	NP_055023.2:p.?	NC_000004.11:g.88533186_88533193del	(Likely) benign	1 lab	e1ce7481f7
2:46620585 MISSING Ref too long to show for this DEL>G	2	46620585	46743312	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.46620586_46743312del	VUS	1 lab	e1d031d08d
12:56117662 RDH5 G>C	12	56117662	56117662	G	C	RDH5	c.570-8G>C	NM_002905.5	NP_002896.2:p.?	NC_000012.11:g.56117662G>C	(Likely) benign	1 lab	e1d2e176f0
1:55521808 PCSK9 T>C	1	55521808	55521808	T	C	PCSK9	c.942T>C	NM_174936.4	NP_777596.2:p.(Ala314=)	NC_000001.10:g.55521808T>C	(Likely) benign	1 lab	e1d61959ae
7:128496494 FLNC G>A	7	128496494	128496494	G	A	FLNC	c.7252-78G>A	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496494G>A	(Likely) benign	1 lab	e1d95fc260
10:90974619 LIPA T>G	10	90974619	90974619	T	G	LIPA	c.1166A>C	NM_000235.4	NP_000226.2:p.(Asn389Thr)	NC_000010.10:g.90974619T>G	VUS	1 lab	e1dbc82a4c
15:42695111 CAPN3 C>T	15	42695111	42695111	C	T	CAPN3	c.1656C>T	NM_000070.3	NP_000061.1:p.(Ser552=)	NC_000015.9:g.42695111C>T	(Likely) pathogenic	1 lab	e1debf004d
4:100511993 MTTP TAC>T	4	100511993	100512021	TAC	T	MTTP	c.502-372_502-371del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512020_100512021del	(Likely) benign	1 lab	e1e1e2c3ba
17:57651145 DHX40 T>G	17	57651145	57651145	T	G	DHX40	c.591T>G	NM_024612.5	NP_078888.4:p.(Ser197=)	NC_000017.10:g.57651145T>G	(Likely) benign	1 lab	e1e948125d
1:231094050 TTC13 GA>G	1	231094050	231094066	GA	G	TTC13	c.367-6del	NM_024525.5	NP_078801.3:p.?	NC_000001.10:g.231094066del	(Likely) benign	1 lab	e1e9bbd9e5
14:64679705 SYNE2 G>C	14	64679705	64679705	G	C	SYNE2	c.19038G>C	NM_182914.3	NP_878918.2:p.(Arg6346=)	NC_000014.8:g.64679705G>C	(Likely) benign	1 lab	e1ed724ac6
5:68749758 MISSING G>Alt too long to show for this DUP	5	68749758	68849654	G	Alt too long to show for this DUP	MISSING				NC_000005.9:g.68749760_68849654dup	VUS	1 lab	e1ee8fa40b
3:49136126 QARS1 C>T	3	49136126	49136126	C	T	QARS1	c.1864-1G>A	NM_005051.3	NP_005042.1:p.?	NC_000003.11:g.49136126C>T	(Likely) pathogenic	1 lab	e1eeb0f2a5
8:144295154 GPIHBP1 C>T	8	144295154	144295154	C	T	GPIHBP1	c.12C>T	NM_178172.6	NP_835466.2:p.(Leu4=)	NC_000008.10:g.144295154C>T	(Likely) benign	1 lab	e1ef72c500
12:2024023 CACNA2D4 C>T	12	2024023	2024023	C	T	CACNA2D4	c.306G>A	NM_172364.5	NP_758952.4:p.(Gln102=)	NC_000012.11:g.2024023C>T	(Likely) benign	1 lab	e1f2771302
3:148904424 CP C>T	3	148904424	148904424	C	T	CP	c.1960G>A	NM_000096.4	NP_000087.2:p.(Asp654Asn)	NC_000003.11:g.148904424C>T	VUS	1 lab	e1f9e92c75
20:33592248 TRPC4AP C>T	20	33592248	33592248	C	T	TRPC4AP	c.2049+13G>A	NM_015638.3	NP_056453.1:p.?	NC_000020.10:g.33592248C>T	(Likely) benign	1 lab	e1fab16e78
1:151379769 POGZ T>C	1	151379769	151379769	T	C	POGZ	c.2376-2A>G	NM_015100.4	NP_055915.2:p.?	NC_000001.10:g.151379769T>C	(Likely) pathogenic	1 lab	e1feff7c81
19:17992995 SLC5A5 C>G	19	17992995	17992995	C	G	SLC5A5	c.1209C>G	NM_000453.3	NP_000444.1:p.(Ala403=)	NC_000019.9:g.17992995C>G	(Likely) benign	1 lab	e205c9d11b
2:179516868 TTN C>A	2	179516868	179516868	C	A	TTN	c.39250G>T	NM_001267550.2	NP_001254479.2:p.(Val13084Leu)	NC_000002.11:g.179516868C>A	VUS	1 lab	e207d72bda
15:48936624 FBN1 G>A	15	48936624	48936624	G	A	FBN1	c.164+179C>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48936624G>A	(Likely) benign	1 lab	e20dfbb8af
16:77327042 ADAMTS18 C>T	16	77327042	77327042	C	T	ADAMTS18	c.3120G>A	NM_199355.4	NP_955387.1:p.(Gln1040=)	NC_000016.9:g.77327042C>T	(Likely) benign	1 lab	e217768cda
13:107452287 MISSING Ref too long to show for this DEL>A	13	107452287	109156216	Ref too long to show for this DEL	A	MISSING				NC_000013.10:g.107452289_109156216del	(Likely) pathogenic	1 lab	e221184a3c
9:135205284 SETX T>C	9	135205284	135205284	T	C	SETX	c.1701A>G	NM_015046.7	NP_055861.3:p.(Arg567=)	NC_000009.11:g.135205284T>C	(Likely) benign	1 lab	e22419eaa3
15:44955574 SPG11 T>C	15	44955574	44955574	T	C	SPG11	c.257+15A>G	NM_025137.4	NP_079413.3:p.?	NC_000015.9:g.44955574T>C	(Likely) benign	1 lab	e25d4709a9
16:56996963 CETP C>T	16	56996963	56996963	C	T	CETP	c.160C>T	NM_000078.3	NP_000069.2:p.(Arg54Ter)	NC_000016.9:g.56996963C>T	(Likely) pathogenic	1 lab	e227e1862c
16:943117 LMF1 G>C	16	943117	943117	G	C	LMF1	c.265-45C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.943117G>C	(Likely) benign	1 lab	e22a253b8b
1:25893406 LDLRAP1 G>A	1	25893406	25893406	G	A	LDLRAP1	c.850G>A	NM_015627.3	NP_056442.2:p.(Ala284Thr)	NC_000001.10:g.25893406G>A	(Likely) benign	1 lab	e22ab05fe2
10:92678744 ANKRD1 A>ATATATATATATATAT	10	92678744	92678745	A	ATATATATATATATAT	ANKRD1	c.346-16_346-15insATATATATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATATATATAT	(Likely) benign	1 lab	e233274cfb
1:12025295 PLOD1 G>A	1	12025295	12025295	G	A	PLOD1	c.1471-242G>A	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12025295G>A	(Likely) benign	1 lab	e2356c5b62
16:1004027 LMF1 C>T	16	1004027	1004027	C	T	LMF1	c.-52+330G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004027C>T	(Likely) benign	1 lab	e2395c84dc
5:138118863 CTNNA1 T>C	5	138118863	138118863	T	C	CTNNA1	c.106-3T>C	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138118863T>C	(Likely) benign	1 lab	e24b661208
3:193335035 OPA1 G>A	3	193335035	193335035	G	A	OPA1	c.517G>A	NM_130837.3	NP_570850.2:p.(Val173Ile)	NC_000003.11:g.193335035G>A	VUS	1 lab	e24e951783
10:73570217 CDH23 C>T	10	73570217	73570217	C	T	CDH23	c.8980-12C>T	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73570217C>T	(Likely) benign	1 lab	e255e85522
9:137727118 COL5A1 C>T	9	137727118	137727118	C	T	COL5A1	c.5370+68C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137727118C>T	(Likely) benign	1 lab	e25cfcb570
12:103352171 ASCL1 C>CGCAGCAGCAGCAGCA	12	103352171	103352208	C	CGCAGCAGCAGCAGCA	ASCL1	c.172_186dup	NM_004316.4	NP_004307.2:p.(Gln58_Gln62dup)	NC_000012.11:g.103352194_103352208dup	(Likely) benign	1 lab	e25ef550a1
X:33050619 DMD Ref too long to show for this DEL>A	X	33050619	33057369	Ref too long to show for this DEL	A	DMD	c.32-19052_32-12303del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.33050620_33057369del	VUS	1 lab	e2606a04f0
2:179484331 TTN AAAAT>A	2	179484331	179484338	AAAAT	A	TTN	c.46696+13_46696+16del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179484335_179484338del	(Likely) benign	1 lab	e26d2372cb
1:156845925 NTRK1 G>C	1	156845925	156845925	G	C	NTRK1	c.1555G>C	NM_002529.4	NP_002520.2:p.(Gly519Arg)	NC_000001.10:g.156845925G>C	(Likely) pathogenic	1 lab	e26d5332a8
2:179612005 TTN G>C	2	179612005	179612005	G	C	TTN	c.15122C>G	NM_133379.5	NP_596870.2:p.(Thr5041Arg)	NC_000002.11:g.179612005G>C	(Likely) benign	1 lab	e27313d638
10:126100693 OAT G>A	10	126100693	126100693	G	A	OAT	c.48C>T	NM_000274.4	NP_000265.1:p.(Arg16=)	NC_000010.10:g.126100693G>A	(Likely) benign	1 lab	e275a083d2
12:122260402 SETD1B A>T	12	122260402	122260402	A	T	SETD1B	c.3917A>T	NM_001353345.2	NP_001340274.1:p.(Asp1306Val)	NC_000012.11:g.122260402A>T	(Likely) benign	1 lab	e27950472d
12:125299615 SCARB1 G>A	12	125299615	125299615	G	A	SCARB1	c.330C>T	NM_001367981.1	NP_001354910.1:p.(Thr110=)	NC_000012.11:g.125299615G>A	(Likely) benign	1 lab	e27b6daa29
9:37006455 PAX5 A>T	9	37006455	37006455	A	T	PAX5	c.475+15T>A	NM_016734.3	NP_057953.1:p.?	NC_000009.11:g.37006455A>T	(Likely) benign	1 lab	e27e276b38
8:116616480 TRPS1 A>T	8	116616480	116616480	A	T	TRPS1	c.1716T>A	NM_014112.5	NP_054831.2:p.(Cys572Ter)	NC_000008.10:g.116616480A>T	(Likely) pathogenic	1 lab	e28242b5fd
15:35086875 ACTC1 G>C	15	35086875	35086875	G	C	ACTC1	c.129+6C>G	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35086875G>C	(Likely) benign	1 lab	e2919e15fe
7:154561176 DPP6 G>A	7	154561176	154561176	G	A	DPP6	c.933G>A	NM_130797.4	NP_570629.2:p.(Thr311=)	NC_000007.13:g.154561176G>A	(Likely) benign	1 lab	e293fb183f
1:55525284 PCSK9 G>T	1	55525284	55525284	G	T	PCSK9	c.1629G>T	NM_174936.4	NP_777596.2:p.(Glu543Asp)	NC_000001.10:g.55525284G>T	VUS	1 lab	e2968ec1a5
11:116661184 APOA5 C>T	11	116661184	116661184	C	T	APOA5	c.761G>A	NM_052968.5	NP_443200.2:p.(Arg254His)	NC_000011.9:g.116661184C>T	VUS	1 lab	e296ade1d2
14:64457224 SYNE2 C>A	14	64457224	64457224	C	A	SYNE2	c.2409C>A	NM_182914.3	NP_878918.2:p.(Ser803=)	NC_000014.8:g.64457224C>A	(Likely) benign	1 lab	e298dadd12
9:140728927 EHMT1 CG>C	9	140728927	140728929	CG	C	EHMT1	c.3669del	NM_024757.5	NP_079033.4:p.(Ile1224SerfsTer8)	NC_000009.11:g.140728929del	(Likely) pathogenic	1 lab	e299b4e46b
2:25464451 DNMT3A G>A	2	25464451	25464451	G	A	DNMT3A	c.2062C>T	NM_175629.2	NP_783328.1:p.(Arg688Cys)	NC_000002.11:g.25464451G>A	(Likely) pathogenic	1 lab	e2a025b7bd
9:137622383 COL5A1 C>T	9	137622383	137622383	C	T	COL5A1	c.1164+62C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137622383C>T	(Likely) benign	1 lab	e2a0bf00f0
17:78081368 GAA G>A	17	78081368	78081368	G	A	GAA	c.705G>A	NM_000152.5	NP_000143.2:p.(Thr235=)	NC_000017.10:g.78081368G>A	(Likely) benign	1 lab	e2a3fdb312
5:43280396 NIM1K G>A	5	43280396	43280396	G	A	NIM1K	c.876G>A	NM_153361.4	NP_699192.1:p.(Pro292=)	NC_000005.9:g.43280396G>A	(Likely) benign	1 lab	e2a89fba9d
2:21235306 APOB A>T	2	21235306	21235306	A	T	APOB	c.4434T>A	NM_000384.3	NP_000375.3:p.(His1478Gln)	NC_000002.11:g.21235306A>T	VUS	1 lab	e2ac7133d9
2:44052152 ABCG5 A>G	2	44052152	44052152	A	G	ABCG5	c.780T>C	NM_022436.3	NP_071881.1:p.(Phe260=)	NC_000002.11:g.44052152A>G	(Likely) benign	1 lab	e2ae227532
17:44061025 MAPT C>T	17	44061025	44061025	C	T	MAPT	c.855C>T	NM_001123066.4	NP_001116538.2:p.(Asp285=)	NC_000017.10:g.44061025C>T	(Likely) benign	1 lab	e2aed584c0
16:21801886 MISSING Ref too long to show for this DEL>C	16	21801886	22710614	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.21801889_22710614del	(Likely) pathogenic	1 lab	e2b275fbf0
9:35705541 TLN1 C>A	9	35705541	35705541	C	A	TLN1	c.5733+7G>T	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35705541C>A	(Likely) benign	1 lab	e2b2cb605e
2:179455045 TTN A>C	2	179455045	179455045	A	C	TTN	c.53703T>G	NM_133378.4	NP_596869.4:p.(Asp17901Glu)	NC_000002.11:g.179455045A>C	VUS	1 lab	e2b2d40ea0
9:27213612 TEK G>C	9	27213612	27213612	G	C	TEK	c.2991+17G>C	NM_000459.5	NP_000450.3:p.?	NC_000009.11:g.27213612G>C	(Likely) benign	1 lab	e2b481adde
9:80020886 VPS13A T>C	9	80020886	80020886	T	C	VPS13A	c.9265T>C	NM_001018037.2	NP_001018047.1:p.(Leu3089=)	NC_000009.11:g.80020886T>C	(Likely) benign	1 lab	e2b9aac743
2:21245844 APOB G>A	2	21245844	21245844	G	A	APOB	c.2675C>T	NM_000384.3	NP_000375.3:p.(Pro892Leu)	NC_000002.11:g.21245844G>A	VUS	1 lab	e2bc7504cb
6:123594101 TRDN C>A	6	123594101	123594101	C	A	TRDN	c.1672+8G>T	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123594101C>A	(Likely) benign	1 lab	e2cc68c30c
6:112465981 LAMA4 C>A	6	112465981	112465981	C	A	LAMA4	c.2493+15G>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112465981C>A	(Likely) benign	1 lab	e2ccb0c711
10:61834156 ANK3 G>A	10	61834156	61834156	G	A	ANK3	c.6483C>T	NM_020987.5	NP_066267.2:p.(Val2161=)	NC_000010.10:g.61834156G>A	(Likely) benign	1 lab	e2da53c07f
11:68115526 LRP5 C>T	11	68115526	68115526	C	T	LRP5	c.303C>T	NM_002335.4	NP_002326.2:p.(Asn101=)	NC_000011.9:g.68115526C>T	(Likely) benign	1 lab	e2e189cfc9
12:122263096 SETD1B C>T	12	122263096	122263096	C	T	SETD1B	c.5171-10C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122263096C>T	(Likely) benign	1 lab	e2e81c7139
2:71747923 DYSF C>T	2	71747923	71747923	C	T	DYSF	c.1035C>T	NM_001130981.2	NP_001124453.1:p.(His345=)	NC_000002.11:g.71747923C>T	(Likely) benign	1 lab	e2f08a3cee
16:961354 LMF1 G>A	16	961354	961354	G	A	LMF1	c.515-275C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.961354G>A	(Likely) benign	1 lab	e2f1e5dfed
16:1004031 LMF1 A>C	16	1004031	1004031	A	C	LMF1	c.-52+326T>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004031A>C	(Likely) benign	1 lab	e2f7925675
6:32009279 TNXB T>C	6	32009279	32009279	T	C	TNXB	c.12628-52A>G	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32009279T>C	(Likely) benign	1 lab	e2f9794fcc
3:184041709 EIF4G1 A>G	3	184041709	184041709	A	G	EIF4G1	c.2419A>G	NM_182917.4	NP_886553.3:p.(Ile807Val)	NC_000003.11:g.184041709A>G	(Likely) benign	1 lab	e2fc070a78
10:121432129 BAG3 C>G	10	121432129	121432129	C	G	BAG3	c.870C>G	NM_004281.4	NP_004272.2:p.(Pro290=)	NC_000010.10:g.121432129C>G	(Likely) benign	1 lab	e2fe0913c0
1:216052113 USH2A T>C	1	216052113	216052113	T	C	USH2A	c.8551A>G	NM_206933.4	NP_996816.3:p.(Asn2851Asp)	NC_000001.10:g.216052113T>C	(Likely) benign	1 lab	e2fee6b269
16:982832 LMF1 G>C	16	982832	982832	G	C	LMF1	c.115+1159C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.982832G>C	(Likely) benign	1 lab	e2ff02408d
9:107562090 ABCA1 C>A	9	107562090	107562090	C	A	ABCA1	c.4943+10G>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107562090C>A	(Likely) benign	1 lab	e300729dd8
12:33030838 PKP2 C>T	12	33030838	33030838	C	T	PKP2	c.976G>A	NM_004572.4	NP_004563.2:p.(Ala326Thr)	NC_000012.11:g.33030838C>T	VUS	1 lab	e3008e70f3
16:68835712 CDH1 C>T	16	68835712	68835712	C	T	CDH1	c.303C>T	NM_004360.5	NP_004351.1:p.(Tyr101=)	NC_000016.9:g.68835712C>T	(Likely) benign	1 lab	e305239e75
20:19955614 RIN2 T>C	20	19955614	19955614	T	C	RIN2	c.1092T>C	NM_001242581.2	NP_001229510.1:p.(Ala364=)	NC_000020.10:g.19955614T>C	(Likely) benign	1 lab	e31f11dc99
13:52520437 ATP7B G>A	13	52520437	52520437	G	A	ATP7B	c.3043C>T	NM_000053.4	NP_000044.2:p.(Leu1015=)	NC_000013.10:g.52520437G>A	(Likely) benign	1 lab	e33dacd6fa
12:125302200 SCARB1 A>G	12	125302200	125302200	A	G	SCARB1	c.180T>C	NM_005505.5	NP_005496.4:p.(Pro60=)	NC_000012.11:g.125302200A>G	(Likely) benign	1 lab	e326a17873
2:144193166 ARHGAP15 G>T	2	144193166	144193166	G	T	ARHGAP15	c.475-4G>T	NM_018460.4	NP_060930.3:p.?	NC_000002.11:g.144193166G>T	(Likely) benign	1 lab	e326bd50db
1:180849421 XPR1 G>A	1	180849421	180849421	G	A	XPR1	c.2018G>A	NM_004736.4	NP_004727.2:p.(Arg673His)	NC_000001.10:g.180849421G>A	(Likely) benign	1 lab	e32c94fd75
19:45409118 APOE G>A	19	45409118	45409118	G	A	APOE	c.-8G>A	NM_001302688.2	NP_001289617.1:p.?	NC_000019.9:g.45409118G>A	(Likely) benign	1 lab	e32cd0b113
2:179569422 TTN T>A	2	179569422	179569422	T	A	TTN	c.29777A>T	NM_001267550.2	NP_001254479.2:p.(Asn9926Ile)	NC_000002.11:g.179569422T>A	VUS	1 lab	e32fc1926d
2:166901716 SCN1A C>T	2	166901716	166901716	C	T	SCN1A	c.1499G>A	NM_001165963.4	NP_001159435.1:p.(Arg500Gln)	NC_000002.11:g.166901716C>T	(Likely) benign	1 lab	e33338085e
17:1563709 PRPF8 C>T	17	1563709	1563709	C	T	PRPF8	c.4785+17G>A	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1563709C>T	(Likely) benign	1 lab	e3336274d2
7:116340027 MET G>C	7	116340027	116340027	G	C	MET	c.889G>C	NM_001127500.3	NP_001120972.1:p.(Glu297Gln)	NC_000007.13:g.116340027G>C	VUS	1 lab	e336625358
16:69933445 MISSING C>Alt too long to show for this DUP	16	69933445	70063091	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.69933448_70063091dup	VUS	1 lab	e339d1f533
12:124399550 DNAH10 T>C	12	124399550	124399550	T	C	DNAH10	c.10368+4T>C	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124399550T>C	(Likely) benign	1 lab	e33cdac4c8
7:19156680 TWIST1 C>CGCCCGCGCCGCCGCCGCCGCCACA	7	19156680	19156710	C	CGCCCGCGCCGCCGCCGCCGCCACA	TWIST1	c.241_264dup	NM_000474.4	NP_000465.1:p.(Cys81_Gly88dup)	NC_000007.13:g.19156687_19156710dup	(Likely) benign	1 lab	e342052b34
7:103138273 RELN C>T	7	103138273	103138273	C	T	RELN	c.8944G>A	NM_005045.4	NP_005036.2:p.(Asp2982Asn)	NC_000007.13:g.103138273C>T	(Likely) benign	1 lab	e343c7fbc6
10:55663049 PCDH15 C>T	10	55663049	55663049	C	T	PCDH15	c.3470G>A	NM_001142771.2	NP_001136243.1:p.(Gly1157Asp)	NC_000010.10:g.55663049C>T	VUS	1 lab	e34981eea8
9:117170242 WHRN G>A	9	117170242	117170242	G	A	WHRN	c.1683C>T	NM_015404.4	NP_056219.3:p.(Leu561=)	NC_000009.11:g.117170242G>A	(Likely) benign	1 lab	e351012e4d
11:8060413 TUB T>G	11	8060413	8060413	T	G	TUB	c.-8T>G	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8060413T>G	(Likely) benign	1 lab	e352796068
12:125299615 SCARB1 G>C	12	125299615	125299615	G	C	SCARB1	c.330C>G	NM_005505.5	NP_005496.4:p.(Thr110=)	NC_000012.11:g.125299615G>C	(Likely) benign	1 lab	e353cc2918
11:4107960 STIM1 C>T	11	4107960	4107960	C	T	STIM1	c.1728C>T	NM_001277961.3	NP_001264890.1:p.(Thr576=)	NC_000011.9:g.4107960C>T	(Likely) benign	1 lab	e355472e2f
3:69036683 EOGT G>A	3	69036683	69036683	G	A	EOGT	c.1084-19C>T	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69036683G>A	(Likely) benign	1 lab	e35599a699
9:101911541 TGFBR1 A>T	9	101911541	101911541	A	T	TGFBR1	c.1466A>T	NM_004612.4	NP_004603.1:p.(Lys489Met)	NC_000009.11:g.101911541A>T	(Likely) pathogenic	1 lab	e355fb511c
15:34610758 SLC12A6 T>G	15	34610758	34610758	T	G	SLC12A6	c.118+4A>C	NM_005135.2	NP_005126.1:p.?	NC_000015.9:g.34610758T>G	(Likely) benign	1 lab	e35baf2d91
1:61554055 NFIA C>T	1	61554055	61554055	C	T	NFIA	c.397C>T	NM_001145512.2	NP_001138984.1:p.(Arg133Ter)	NC_000001.10:g.61554055C>T	(Likely) pathogenic	1 lab	e35bfe1899
18:45377346 SMAD2 A>C	18	45377346	45377346	A	C	SMAD2	c.784+299T>G	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45377346A>C	(Likely) benign	1 lab	e387ba9bfb
8:134125646 TG G>A	8	134125646	134125646	G	A	TG	c.7573-20G>A	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134125646G>A	(Likely) benign	1 lab	e366b83cfc
2:179577439 TTN G>T	2	179577439	179577439	G	T	TTN	c.27313C>A	NM_001267550.2	NP_001254479.2:p.(His9105Asn)	NC_000002.11:g.179577439G>T	VUS	1 lab	e37154acd8
11:48347142 OR4C3 C>T	11	48347142	48347142	C	T	OR4C3	c.569C>T	NM_001004702.2	NP_001004702.2:p.(Thr190Met)	NC_000011.9:g.48347142C>T	(Likely) benign	1 lab	e371edfe23
4:100532433 MTTP C>T	4	100532433	100532433	C	T	MTTP	c.1867+36C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100532433C>T	(Likely) benign	1 lab	e373e12802
X:154250921 MISSING Ref too long to show for this DEL>C	X	154250921	154336050	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.154250923_154336050del	(Likely) pathogenic	1 lab	e37683ec19
9:107593430 ABCA1 TAA>T	9	107593430	107593451	TAA	T	ABCA1	c.1716-50_1716-49del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107593450_107593451del	(Likely) benign	1 lab	e376c8facd
2:21263839 APOB G>T	2	21263839	21263839	G	T	APOB	c.354C>A	NM_000384.3	NP_000375.3:p.(Asn118Lys)	NC_000002.11:g.21263839G>T	(Likely) benign	1 lab	e37825fe10
2:179511767 TTN G>GTATATATATATA	2	179511767	179511789	G	GTATATATATATA	TTN	c.40222+12_40222+23dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179511778_179511789dup	(Likely) benign	1 lab	e3782ca994
12:1009444 MISSING A>Alt too long to show for this DUP	12	1009444	1700479	A	Alt too long to show for this DUP	MISSING				NC_000012.11:g.1009445_1700479dup	VUS	1 lab	e37dd63fd9
3:195731955 MISSING Ref too long to show for this DEL>T	3	195731955	197339329	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.195731956_197339329del	(Likely) pathogenic	1 lab	e37ed03e6c
1:150464965 TARS2 G>T	1	150464965	150464965	G	T	TARS2	c.774G>T	NM_025150.5	NP_079426.2:p.(Ser258=)	NC_000001.10:g.150464965G>T	(Likely) pathogenic	1 lab	e384443075
17:7910863 GUCY2D G>A	17	7910863	7910863	G	A	GUCY2D	c.1566+17G>A	NM_000180.4	NP_000171.1:p.?	NC_000017.10:g.7910863G>A	(Likely) benign	1 lab	e38791cc42
9:140057658 GRIN1 G>A	9	140057658	140057658	G	A	GRIN1	c.2209G>A	NM_007327.4	NP_015566.1:p.(Glu737Lys)	NC_000009.11:g.140057658G>A	(Likely) pathogenic	1 lab	e3886c3ff0
8:92350413 MISSING Ref too long to show for this DEL>T	8	92350413	93929051	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.92350416_93929051del	(Likely) pathogenic	1 lab	e389106110
11:129772306 PRDM10 C>A	11	129772306	129772306	C	A	PRDM10	c.3385G>T	NM_020228.3	NP_064613.2:p.(Asp1129Tyr)	NC_000011.9:g.129772306C>A	VUS	1 lab	e38ac27c16
11:48158849 PTPRJ A>G	11	48158849	48158849	A	G	PTPRJ	c.2152+16A>G	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48158849A>G	(Likely) benign	1 lab	e38b2e809d
5:89918460 ADGRV1 T>C	5	89918460	89918460	T	C	ADGRV1	c.500T>C	NM_032119.4	NP_115495.3:p.(Met167Thr)	NC_000005.9:g.89918460T>C	(Likely) benign	1 lab	e38b58f779
9:107645080 ABCA1 C>T	9	107645080	107645080	C	T	ABCA1	c.421+240G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107645080C>T	(Likely) benign	1 lab	e38c84cd8f
16:84034829 MISSING G>Alt too long to show for this DUP	16	84034829	84223310	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.84034830_84223310dup	VUS	1 lab	e38dd1ab4d
12:52913655 KRT5 C>CTCT	12	52913655	52913659	C	CTCT	KRT5	c.423_425dup	NM_000424.4	NP_000415.2:p.(Glu142dup)	NC_000012.11:g.52913657_52913659dup	(Likely) pathogenic	1 lab	e38fc43b91
6:32489844 HLA-DRB5 C>T	6	32489844	32489844	C	T	HLA-DRB5	c.208G>A	NM_002125.4	NP_002116.2:p.(Asp70Asn)	NC_000006.11:g.32489844C>T	(Likely) benign	1 lab	e3934d45c4
1:55512261 PCSK9 G>A	1	55512261	55512261	G	A	PCSK9	c.465G>A	NM_174936.4	NP_777596.2:p.(Pro155=)	NC_000001.10:g.55512261G>A	(Likely) benign	1 lab	e3968bdd72
17:10317716 MYH8 C>T	17	10317716	10317716	C	T	MYH8	c.891G>A	NM_002472.3	NP_002463.2:p.(Lys297=)	NC_000017.10:g.10317716C>T	(Likely) benign	1 lab	e39a7ae410
10:92678740 ANKRD1 AATAAATAAATATATATATAT>A	10	92678740	92678763	AATAAATAAATATATATATAT	A	ANKRD1	c.346-31_346-12del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678763del	(Likely) benign	1 lab	e39cf382a2
16:56663792 MISSING Ref too long to show for this DEL>A	16	56663792	56695476	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.56663793_56695476del	VUS	1 lab	e3a2cd0166
12:2602513 CACNA1C G>A	12	2602513	2602513	G	A	CACNA1C	c.1074G>A	NM_199460.4	NP_955630.3:p.(Gln358=)	NC_000012.11:g.2602513G>A	(Likely) benign	1 lab	e3a374a21a
2:219206349 PNKD AG>A	2	219206349	219206350	AG	A	PNKD	c.617+1del	NM_015488.5	NP_056303.3:p.?	NC_000002.11:g.219206350del	VUS	1 lab	e3f18192bf
1:116942134 ATP1A1 G>A	1	116942134	116942134	G	A	ATP1A1	c.2541G>A	NM_001160233.2	NP_001153705.1:p.(Glu847=)	NC_000001.10:g.116942134G>A	(Likely) benign	1 lab	e3a3f34556
17:39921190 JUP C>T	17	39921190	39921190	C	T	JUP	c.1039G>A	NM_002230.4	NP_002221.1:p.(Ala347Thr)	NC_000017.10:g.39921190C>T	VUS	1 lab	e3a4f358ac
17:14095298 MISSING Ref too long to show for this DEL>T	17	14095298	15472351	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.14095299_15472351del	(Likely) pathogenic	1 lab	e3a7146597
5:13776686 DNAH5 G>A	5	13776686	13776686	G	A	DNAH5	c.9235C>T	NM_001369.3	NP_001360.1:p.(Arg3079Ter)	NC_000005.9:g.13776686G>A	(Likely) pathogenic	1 lab	e3a912911b
2:179483200 TTN C>A	2	179483200	179483200	C	A	TTN	c.39281G>T	NM_133378.4	NP_596869.4:p.(Arg13094Leu)	NC_000002.11:g.179483200C>A	VUS	1 lab	e3aa74ab48
14:102482258 DYNC1H1 G>A	14	102482258	102482258	G	A	DYNC1H1	c.7308G>A	NM_001376.5	NP_001367.2:p.(Ala2436=)	NC_000014.8:g.102482258G>A	(Likely) benign	1 lab	e3ad50ce89
2:179575958 TTN A>G	2	179575958	179575958	A	G	TTN	c.28005T>C	NM_001267550.2	NP_001254479.2:p.(Tyr9335=)	NC_000002.11:g.179575958A>G	(Likely) benign	1 lab	e3afebb1f3
9:4149969 GLIS3 Ref too long to show for this DEL>G	9	4149969	4362625	Ref too long to show for this DEL	G	GLIS3				NC_000009.11:g.4149971_4362625del	VUS	1 lab	e3b1fee09a
1:216011314 USH2A C>G	1	216011314	216011314	C	G	USH2A	c.9371+19G>C	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216011314C>G	(Likely) benign	1 lab	e3b574d68a
19:8138054 FBN3 C>A	19	8138054	8138054	C	A	FBN3	c.7830G>T	NM_032447.5	NP_115823.3:p.(Glu2610Asp)	NC_000019.9:g.8138054C>A	(Likely) benign	1 lab	e3b7627d6a
14:80669580 DIO2 T>C	14	80669580	80669580	T	C	DIO2	c.274A>G	NM_000793.6	NP_000784.3:p.(Thr92Ala)	NC_000014.8:g.80669580T>C	(Likely) benign	1 lab	e3b8538627
16:16256993 ABCC6 C>T	16	16256993	16256993	C	T	ABCC6	c.3021G>A	NM_001351800.1	NP_001338729.1:p.(Ser1007=)	NC_000016.9:g.16256993C>T	(Likely) benign	1 lab	e3bb471380
7:150644796 KCNH2 G>C	7	150644796	150644796	G	C	KCNH2	c.2863C>G	NM_000238.4	NP_000229.1:p.(Leu955Val)	NC_000007.13:g.150644796G>C	VUS	1 lab	e3bb702752
2:189851608 COL3A1 C>T	2	189851608	189851608	C	T	COL3A1	c.448-177C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189851608C>T	(Likely) benign	1 lab	e3bd0fe234
1:229568453 ACTA1 C>T	1	229568453	229568453	C	T	ACTA1	c.304G>A	NM_001100.4	NP_001091.1:p.(Glu102Lys)	NC_000001.10:g.229568453C>T	(Likely) pathogenic	1 lab	e3be921420
19:23690424 MISSING G>Alt too long to show for this DUP	19	23690424	24596762	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.23690426_24596762dup	VUS	1 lab	e3c1b33dac
15:85366423 ALPK3 A>G	15	85366423	85366423	A	G	ALPK3	c.144-138A>G	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85366423A>G	(Likely) benign	1 lab	e3c6b36597
7:151875100 KMT2C T>TTAAAAAAA	7	151875100	151875101	T	TTAAAAAAA	KMT2C	c.7443-6_7443-5insTTTTTTTA	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875100_151875101insTAAAAAAA	(Likely) benign	1 lab	e3c7862132
8:59409769 CYP7A1 G>A	8	59409769	59409769	G	A	CYP7A1	c.322-20C>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59409769G>A	(Likely) benign	1 lab	e3cf4c5f1c
14:23883225 MYH7 G>A	14	23883225	23883225	G	A	MYH7	c.5646C>T	NM_000257.4	NP_000248.2:p.(Ala1882=)	NC_000014.8:g.23883225G>A	(Likely) benign	1 lab	e3d010b0fe
12:81112694 MYF5 T>C	12	81112694	81112694	T	C	MYF5	c.632T>C	NM_005593.3	NP_005584.2:p.(Val211Ala)	NC_000012.11:g.81112694T>C	VUS	1 lab	e3d0a1814a
6:152782766 SYNE1 G>A	6	152782766	152782766	G	A	SYNE1	c.2360C>T	NM_182961.4	NP_892006.3:p.(Ala787Val)	NC_000006.11:g.152782766G>A	VUS	1 lab	e3d183bd50
11:95569448 MTMR2 T>C	11	95569448	95569448	T	C	MTMR2	c.1418A>G	NM_001243571.2	NP_001230500.1:p.(Asn473Ser)	NC_000011.9:g.95569448T>C	(Likely) benign	1 lab	e3d2eb8aa5
6:116720514 DSE C>T	6	116720514	116720514	C	T	DSE	c.101C>T	NM_013352.4	NP_037484.1:p.(Pro34Leu)	NC_000006.11:g.116720514C>T	(Likely) benign	1 lab	e3d4ac3ae7
10:112595363 RBM20 G>T	10	112595363	112595363	G	T	RBM20	c.3574-263G>T	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112595363G>T	(Likely) benign	1 lab	e3d53952cc
20:32031203 SNTA1 G>T	20	32031203	32031203	G	T	SNTA1	c.224C>A	NM_003098.3	NP_003089.1:p.(Pro75Gln)	NC_000020.10:g.32031203G>T	VUS	1 lab	e3d5c55a56
1:236912494 ACTN2 A>G	1	236912494	236912494	A	G	ACTN2	c.962A>G	NM_001278344.2	NP_001265273.1:p.(Asn321Ser)	NC_000001.10:g.236912494A>G	VUS	1 lab	e3dd975f2f
12:33031167 PKP2 G>T	12	33031167	33031167	G	T	PKP2	c.647C>A	NM_004572.4	NP_004563.2:p.(Thr216Lys)	NC_000012.11:g.33031167G>T	VUS	1 lab	e3de7c9723
3:4687362 ITPR1 C>T	3	4687362	4687362	C	T	ITPR1	c.805C>T	NM_001168272.2	NP_001161744.1:p.(Arg269Trp)	NC_000003.11:g.4687362C>T	(Likely) pathogenic	1 lab	e3decf30b0
22:29669712 EWSR1 C>G	22	29669712	29669712	C	G	EWSR1	c.103-18C>G	NM_013986.4	NP_053733.2:p.?	NC_000022.10:g.29669712C>G	(Likely) benign	1 lab	e3e6aab823
11:75605924 MISSING T>Alt too long to show for this DUP	11	75605924	75869385	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.75605928_75869385dup	VUS	1 lab	e3ed96a4fa
1:6529443 PLEKHG5 A>G	1	6529443	6529443	A	G	PLEKHG5	c.2001T>C	NM_198681.4	NP_941374.3:p.(Ser667=)	NC_000001.10:g.6529443A>G	(Likely) benign	1 lab	e3eee8c17e
12:1989025 CACNA2D4 C>T	12	1989025	1989025	C	T	CACNA2D4	c.1508G>A	NM_172364.5	NP_758952.4:p.(Ser503Asn)	NC_000012.11:g.1989025C>T	(Likely) benign	1 lab	e3f0933197
2:21266786 APOB A>G	2	21266786	21266786	A	G	APOB	c.32T>C	NM_000384.3	NP_000375.3:p.(Leu11Pro)	NC_000002.11:g.21266786A>G	VUS	1 lab	e3f2892bf1
10:75874082 VCL T>G	10	75874082	75874082	T	G	VCL	c.3090T>G	NM_014000.3	NP_054706.1:p.(Thr1030=)	NC_000010.10:g.75874082T>G	(Likely) benign	1 lab	e3f4ed63e7
2:96949580 SNRNP200 G>A	2	96949580	96949580	G	A	SNRNP200	c.4555C>T	NM_014014.5	NP_054733.2:p.(Arg1519Cys)	NC_000002.11:g.96949580G>A	VUS	1 lab	e3f845e0b7
8:134128919 TG C>T	8	134128919	134128919	C	T	TG	c.7821C>T	NM_003235.5	NP_003226.4:p.(Asn2607=)	NC_000008.10:g.134128919C>T	(Likely) benign	1 lab	e3fa45536b
18:34297872 FHOD3 C>T	18	34297872	34297872	C	T	FHOD3	c.2611C>T	NM_001281740.3	NP_001268669.1:p.(Leu871Phe)	NC_000018.9:g.34297872C>T	VUS	1 lab	e3fff4490d
10:63977011 RTKN2 G>GA	10	63977011	63977029	G	GA	RTKN2	c.889-4dup	NM_145307.4	NP_660350.2:p.?	NC_000010.10:g.63977029dup	(Likely) benign	1 lab	e405fefdd8
15:73615071 HCN4 C>A	15	73615071	73615071	C	A	HCN4	c.3363G>T	NM_005477.3	NP_005468.1:p.(Arg1121Ser)	NC_000015.9:g.73615071C>A	VUS	1 lab	e408671c7b
1:47882038 FOXE3 T>C	1	47882038	47882038	T	C	FOXE3	c.51T>C	NM_012186.3	NP_036318.1:p.(Pro17=)	NC_000001.10:g.47882038T>C	(Likely) benign	1 lab	e40f403937
5:140604857 PCDHB14 G>A	5	140604857	140604857	G	A	PCDHB14	c.1780G>A	NM_018934.4	NP_061757.1:p.(Gly594Ser)	NC_000005.9:g.140604857G>A	(Likely) benign	1 lab	e412f648f4
2:21239442 APOB C>T	2	21239442	21239442	C	T	APOB	c.3201G>A	NM_000384.3	NP_000375.3:p.(Pro1067=)	NC_000002.11:g.21239442C>T	(Likely) benign	1 lab	e41336ea5a
17:10304500 MYH8 C>T	17	10304500	10304500	C	T	MYH8	c.3117G>A	NM_002472.3	NP_002463.2:p.(Gly1039=)	NC_000017.10:g.10304500C>T	(Likely) benign	1 lab	e413e0f489
1:47640233 MISSING G>Alt too long to show for this DUP	1	47640233	47677261	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.47640234_47677261dup	VUS	1 lab	e41ede03f8
18:19424225 MIB1 A>G	18	19424225	19424225	A	G	MIB1	c.2211+11A>G	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19424225A>G	(Likely) benign	1 lab	e42633dd65
16:81411436 GAN T>C	16	81411436	81411436	T	C	GAN	c.*235T>C	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81411436T>C	(Likely) benign	1 lab	e42e7ddc06
2:202593926 ALS2 G>A	2	202593926	202593926	G	A	ALS2	c.2581-20C>T	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202593926G>A	(Likely) benign	1 lab	e432d1a4f8
13:32893347 BRCA2 GAAACCATCTTATAATC>G	13	32893347	32893364	GAAACCATCTTATAATC	G	BRCA2	c.203_218del	NM_000059.4	NP_000050.3:p.(Lys68SerfsTer7)	NC_000013.10:g.32893349_32893364del	(Likely) pathogenic	1 lab	e440028f86
4:114294348 ANK2 T>A	4	114294348	114294348	T	A	ANK2	c.11694+19T>A	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114294348T>A	(Likely) benign	1 lab	e442c2d2f0
19:10084292 COL5A3 C>G	19	10084292	10084292	C	G	COL5A3	c.3620G>C	NM_015719.4	NP_056534.2:p.(Arg1207Pro)	NC_000019.9:g.10084292C>G	(Likely) benign	1 lab	e445cec87e
2:105977866 FHL2 G>A	2	105977866	105977866	G	A	FHL2	c.714C>T	NM_001318895.3	NP_001305824.1:p.(Ser238=)	NC_000002.11:g.105977866G>A	(Likely) benign	1 lab	e4484fbc1d
19:11215960 LDLR C>T	19	11215960	11215960	C	T	LDLR	c.378C>T	NM_000527.5	NP_000518.1:p.(Phe126=)	NC_000019.9:g.11215960C>T	(Likely) benign	1 lab	e44b290458
2:179467050 TTN G>A	2	179467050	179467050	G	A	TTN	c.55079C>T	NM_001267550.2	NP_001254479.2:p.(Pro18360Leu)	NC_000002.11:g.179467050G>A	(Likely) benign	1 lab	e44d3b50ea
2:21227282 APOB C>T	2	21227282	21227282	C	T	APOB	c.11946G>A	NM_000384.3	NP_000375.3:p.(Ala3982=)	NC_000002.11:g.21227282C>T	(Likely) benign	1 lab	e44d9b111e
2:44047458 ABCG5 C>T	2	44047458	44047458	C	T	ABCG5	c.1464-219G>A	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44047458C>T	(Likely) benign	1 lab	e44fb0198d
2:48027443 MSH6 T>C	2	48027443	48027443	T	C	MSH6	c.2321T>C	NM_000179.3	NP_000170.1:p.(Leu774Pro)	NC_000002.11:g.48027443T>C	(Likely) pathogenic	1 lab	e450208a00
8:145008560 PLEC A>G	8	145008560	145008560	A	G	PLEC	c.1506T>C	NM_201380.4	NP_958782.1:p.(Asp502=)	NC_000008.10:g.145008560A>G	(Likely) benign	1 lab	e454eebea4
14:77978621 SPTLC2 A>C	14	77978621	77978621	A	C	SPTLC2	c.*6T>G	NM_004863.4	NP_004854.1:p.?	NC_000014.8:g.77978621A>C	(Likely) benign	1 lab	e462e2a54e
16:89348347 ANKRD11 TG>T	16	89348347	89348348	TG	T	ANKRD11	c.4602del	NM_001256182.2	NP_001243111.1:p.(Phe1534LeufsTer13)	NC_000016.9:g.89348348del	(Likely) pathogenic	1 lab	e468978c06
8:19813569 LPL G>C	8	19813569	19813569	G	C	LPL	c.993G>C	NM_000237.3	NP_000228.1:p.(Lys331Asn)	NC_000008.10:g.19813569G>C	VUS	1 lab	e4690a2ca4
17:41223016 BRCA1 A>C	17	41223016	41223016	A	C	BRCA1	c.4915T>G	NM_007294.4	NP_009225.1:p.(Leu1639Val)	NC_000017.10:g.41223016A>C	(Likely) benign	1 lab	e46a95006b
21:46911242 COL18A1 G>A	21	46911242	46911242	G	A	COL18A1	c.3402+14G>A	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46911242G>A	(Likely) benign	1 lab	e478296fe4
12:21370220 SLCO1B1 T>A	12	21370220	21370220	T	A	SLCO1B1	c.1665T>A	NM_006446.5	NP_006437.3:p.(His555Gln)	NC_000012.11:g.21370220T>A	(Likely) benign	1 lab	e479a3603f
10:121436373 BAG3 A>G	10	121436373	121436373	A	G	BAG3	c.1307A>G	NM_004281.4	NP_004272.2:p.(Glu436Gly)	NC_000010.10:g.121436373A>G	VUS	1 lab	e47c04a2b6
9:107578592 ABCA1 A>G	9	107578592	107578592	A	G	ABCA1	c.3570T>C	NM_005502.4	NP_005493.2:p.(His1190=)	NC_000009.11:g.107578592A>G	(Likely) benign	1 lab	e47e63e211
5:127625559 FBN2 T>C	5	127625559	127625559	T	C	FBN2	c.6511+15A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127625559T>C	(Likely) benign	1 lab	e47faea77b
17:7910425 GUCY2D A>ATGGGGCTGGC	17	7910425	7910441	A	ATGGGGCTGGC	GUCY2D	c.1433_1442dup	NM_000180.4	NP_000171.1:p.(Phe482GlyfsTer78)	NC_000017.10:g.7910432_7910441dup	(Likely) pathogenic	1 lab	e487816d1c
9:137630458 COL5A1 G>A	9	137630458	137630458	G	A	COL5A1	c.1431+97G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137630458G>A	(Likely) benign	1 lab	e48dc73e83
11:68673577 IGHMBP2 C>T	11	68673577	68673577	C	T	IGHMBP2	c.127C>T	NM_002180.3	NP_002171.2:p.(Arg43Ter)	NC_000011.9:g.68673577C>T	(Likely) pathogenic	1 lab	e48fd65270
16:57005913 CETP T>G	16	57005913	57005913	T	G	CETP	c.668T>G	NM_000078.3	NP_000069.2:p.(Leu223Arg)	NC_000016.9:g.57005913T>G	VUS	1 lab	e490632a1f
4:100543927 MTTP G>A	4	100543927	100543927	G	A	MTTP	c.2607G>A	NM_000253.4	NP_000244.2:p.(Pro869=)	NC_000004.11:g.100543927G>A	(Likely) benign	1 lab	e491eb5c2b
11:47353519 MYBPC3 C>G	11	47353519	47353519	C	G	MYBPC3	c.3815-87G>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353519C>G	(Likely) benign	1 lab	e49a8b8355
19:45452003 APOC2 C>T	19	45452003	45452003	C	T	APOC2	c.101C>T	NM_000483.5	NP_000474.2:p.(Pro34Leu)	NC_000019.9:g.45452003C>T	(Likely) benign	1 lab	e49af4a7f6
11:95569326 MTMR2 G>T	11	95569326	95569326	G	T	MTMR2	c.1540C>A	NM_001243571.2	NP_001230500.1:p.(Arg514=)	NC_000011.9:g.95569326G>T	(Likely) benign	1 lab	e4a3d299bb
2:189856322 COL3A1 CTT>C	2	189856322	189856325	CTT	C	COL3A1	c.897+67_897+68del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189856324_189856325del	(Likely) benign	1 lab	e4a6afd5cb
2:179437554 TTN G>A	2	179437554	179437554	G	A	TTN	c.73305C>T	NM_001267550.2	NP_001254479.2:p.(Arg24435=)	NC_000002.11:g.179437554G>A	(Likely) benign	1 lab	e4a7a00fa8
5:148417965 SH3TC2 G>A	5	148417965	148417965	G	A	SH3TC2	c.894C>T	NM_024577.4	NP_078853.2:p.(Ile298=)	NC_000005.9:g.148417965G>A	(Likely) benign	1 lab	e4aa382350
6:169621600 THBS2 G>A	6	169621600	169621600	G	A	THBS2	c.3296C>T	NM_003247.5	NP_003238.2:p.(Pro1099Leu)	NC_000006.11:g.169621600G>A	(Likely) benign	1 lab	e4b05f6548
6:94062996 MISSING A>Alt too long to show for this DUP	6	94062996	94151300	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.94062997_94151300dup	VUS	1 lab	e4b23f2f70
18:28667710 DSC2 T>C	18	28667710	28667710	T	C	DSC2	c.697A>G	NM_024422.6	NP_077740.1:p.(Ile233Val)	NC_000018.9:g.28667710T>C	VUS	1 lab	e4b6c53643
1:12012518 PLOD1 C>G	1	12012518	12012518	C	G	PLOD1	c.467-162C>G	NM_000302.4	NP_000293.2:p.?	NC_000001.10:g.12012518C>G	(Likely) benign	1 lab	e4b8e9484f
22:21728656 MISSING Ref too long to show for this DEL>C	22	21728656	23652527	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21728658_23652527del	(Likely) pathogenic	1 lab	e4b96aaea3
5:77585247 MISSING A>Alt too long to show for this DUP	5	77585247	77662362	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.77585248_77662362dup	VUS	1 lab	e4be970b03
6:137193320 PEX7 CT>C	6	137193320	137193331	CT	C	PEX7	c.748-5del	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193331del	(Likely) benign	1 lab	e4c7ecf825
11:6646599 DCHS1 G>A	11	6646599	6646599	G	A	DCHS1	c.6976C>T	NM_003737.4	NP_003728.1:p.(Arg2326Cys)	NC_000011.9:g.6646599G>A	VUS	1 lab	e4c95f2f26
7:151372554 PRKAG2 C>G	7	151372554	151372554	C	G	PRKAG2	c.636G>C	NM_016203.4	NP_057287.2:p.(Pro212=)	NC_000007.13:g.151372554C>G	(Likely) benign	1 lab	e4caebacda
X:135960230 RBMX C>T	X	135960230	135960230	C	T	RBMX	c.232G>A	NM_002139.4	NP_002130.2:p.(Ala78Thr)	NC_000023.10:g.135960230C>T	(Likely) benign	1 lab	e4d49e7e7d
15:48707844 FBN1 T>G	15	48707844	48707844	T	G	FBN1	c.7940A>C	NM_000138.5	NP_000129.3:p.(Gln2647Pro)	NC_000015.9:g.48707844T>G	VUS	1 lab	e4d4b46d46
9:137715309 COL5A1 C>T	9	137715309	137715309	C	T	COL5A1	c.4692C>T	NM_000093.5	NP_000084.3:p.(Gly1564=)	NC_000009.11:g.137715309C>T	(Likely) benign	1 lab	e4d7f36696
4:47939240 CNGA1 C>T	4	47939240	47939240	C	T	CNGA1	c.1259G>A	NM_001142564.2	NP_001136036.2:p.(Arg420Gln)	NC_000004.11:g.47939240C>T	(Likely) benign	1 lab	e4de578c27
12:125348225 SCARB1 C>A	12	125348225	125348225	C	A	SCARB1	c.42G>T	NM_005505.5	NP_005496.4:p.(Leu14=)	NC_000012.11:g.125348225C>A	(Likely) benign	1 lab	e4de77e490
14:23870077 MYH6 G>A	14	23870077	23870077	G	A	MYH6	c.1251C>T	NM_002471.4	NP_002462.2:p.(Ser417=)	NC_000014.8:g.23870077G>A	(Likely) benign	1 lab	e4df5724bc
2:29297026 PCARE G>A	2	29297026	29297026	G	A	PCARE	c.102C>T	NM_001029883.3	NP_001025054.1:p.(Gly34=)	NC_000002.11:g.29297026G>A	(Likely) benign	1 lab	e4e0300284
17:39150054 KRTAP3-3 T>C	17	39150054	39150054	T	C	KRTAP3-3	c.296A>G	NM_033185.3	NP_149441.1:p.(Ter99=)	NC_000017.10:g.39150054T>C	(Likely) benign	1 lab	e4e0dfcceb
16:57017303 CETP C>T	16	57017303	57017303	C	T	CETP	c.1387C>T	NM_000078.3	NP_000069.2:p.(Pro463Ser)	NC_000016.9:g.57017303C>T	VUS	1 lab	e4e0e3aafe
15:48725140 FBN1 C>T	15	48725140	48725140	C	T	FBN1	c.6662G>A	NM_000138.5	NP_000129.3:p.(Cys2221Tyr)	NC_000015.9:g.48725140C>T	(Likely) pathogenic	1 lab	e4e1728c0e
2:179445189 TTN A>G	2	179445189	179445189	A	G	TTN	c.66917T>C	NM_001267550.2	NP_001254479.2:p.(Ile22306Thr)	NC_000002.11:g.179445189A>G	(Likely) benign	1 lab	e4e2e1eed1
22:50656773 TUBGCP6 G>A	22	50656773	50656773	G	A	TUBGCP6	c.5013C>T	NM_020461.4	NP_065194.3:p.(His1671=)	NC_000022.10:g.50656773G>A	(Likely) benign	1 lab	e4e4a62668
15:23890895 MAGEL2 G>A	15	23890895	23890895	G	A	MAGEL2	c.1995C>T	NM_019066.5	NP_061939.3:p.(Pro665=)	NC_000015.9:g.23890895G>A	(Likely) benign	1 lab	e5233aaaf8
10:55755523 PCDH15 A>G	10	55755523	55755523	A	G	PCDH15	c.2754T>C	NM_001354429.2	NP_001341358.1:p.(Asp918=)	NC_000010.10:g.55755523A>G	(Likely) benign	1 lab	e4fb02046c
16:53691388 RPGRIP1L G>C	16	53691388	53691388	G	C	RPGRIP1L	c.1558C>G	NM_001308334.3	NP_001295263.1:p.(His520Asp)	NC_000016.9:g.53691388G>C	(Likely) benign	1 lab	e4fb9340be
10:88446829 LDB3 C>T	10	88446829	88446829	C	T	LDB3	c.693C>T	NM_001171610.2	NP_001165081.1:p.(Ala231=)	NC_000010.10:g.88446829C>T	(Likely) benign	1 lab	e4ff5641b2
3:69171391 LMOD3 G>A	3	69171391	69171391	G	A	LMOD3	c.147C>T	NM_001304418.3	NP_001291347.1:p.(Pro49=)	NC_000003.11:g.69171391G>A	(Likely) benign	1 lab	e50799c791
8:43033293 HGSNAT T>C	8	43033293	43033293	T	C	HGSNAT	c.928T>C	NM_152419.3	NP_689632.2:p.(Leu310=)	NC_000008.10:g.43033293T>C	(Likely) benign	1 lab	e5098c8740
1:22450207 MISSING C>Alt too long to show for this DUP	1	22450207	22898191	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.22450208_22898191dup	VUS	1 lab	e509f4805f
17:41245873 BRCA1 CT>C	17	41245873	41245877	CT	C	BRCA1	c.1674del	NM_007294.4	NP_009225.1:p.(Gly559ValfsTer13)	NC_000017.10:g.41245877del	(Likely) pathogenic	1 lab	e514d36407
3:193311212 OPA1 C>T	3	193311212	193311212	C	T	OPA1	c.32+14C>T	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193311212C>T	(Likely) benign	1 lab	e514df7604
13:23808732 SGCG CT>C	13	23808732	23808744	CT	C	SGCG	c.196-6del	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23808744del	(Likely) benign	1 lab	e517f0a159
9:137716454 COL5A1 G>A	9	137716454	137716454	G	A	COL5A1	c.4707G>A	NM_000093.5	NP_000084.3:p.(Pro1569=)	NC_000009.11:g.137716454G>A	(Likely) benign	1 lab	e518aaf260
20:61467530 COL9A3 C>T	20	61467530	61467530	C	T	COL9A3	c.1402-9C>T	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61467530C>T	(Likely) benign	1 lab	e51e285c6c
X:433594 MISSING Ref too long to show for this DEL>C	X	433594	756011	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.433596_756011del	(Likely) pathogenic	1 lab	e5216a32c9
11:1951034 TNNT3 G>A	11	1951034	1951034	G	A	TNNT3	c.83-6G>A	NM_001297646.2	NP_001284575.1:p.?	NC_000011.9:g.1951034G>A	(Likely) benign	1 lab	e522a04572
12:48375878 COL2A1 G>A	12	48375878	48375878	G	A	COL2A1	c.2355+12C>T	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375878G>A	(Likely) benign	1 lab	e52c36a177
2:233194512 DIS3L2 A>C	2	233194512	233194512	A	C	DIS3L2	c.1740-11A>C	NM_152383.5	NP_689596.4:p.?	NC_000002.11:g.233194512A>C	(Likely) benign	1 lab	e52ccf2ab7
4:123664349 BBS12 C>T	4	123664349	123664349	C	T	BBS12	c.1302C>T	NM_001178007.2	NP_001171478.1:p.(Ile434=)	NC_000004.11:g.123664349C>T	(Likely) benign	1 lab	e52e4245ea
3:14206341 XPC G>C	3	14206341	14206341	G	C	XPC	c.872C>G	NM_004628.5	NP_004619.3:p.(Ser291Cys)	NC_000003.11:g.14206341G>C	(Likely) benign	1 lab	e52e966d52
11:9829727 SBF2 T>C	11	9829727	9829727	T	C	SBF2	c.4263A>G	NM_030962.4	NP_112224.1:p.(Thr1421=)	NC_000011.9:g.9829727T>C	(Likely) benign	1 lab	e52f1173a5
14:23873908 MYH6 C>G	14	23873908	23873908	C	G	MYH6	c.642+12G>C	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23873908C>G	(Likely) benign	1 lab	e535cb88cd
16:57015544 CETP G>T	16	57015544	57015544	G	T	CETP	c.1215-15G>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015544G>T	(Likely) benign	1 lab	e536b96781
19:746526 PALM C>T	19	746526	746526	C	T	PALM	c.876C>T	NM_002579.3	NP_002570.2:p.(Pro292=)	NC_000019.9:g.746526C>T	(Likely) benign	1 lab	e537bb6bb3
2:21229061 APOB T>C	2	21229061	21229061	T	C	APOB	c.10679A>G	NM_000384.3	NP_000375.3:p.(Tyr3560Cys)	NC_000002.11:g.21229061T>C	(Likely) pathogenic	1 lab	e53a545732
9:27206669 TEK G>C	9	27206669	27206669	G	C	TEK	c.2454G>C	NM_000459.5	NP_000450.3:p.(Val818=)	NC_000009.11:g.27206669G>C	(Likely) benign	1 lab	e5430cdcb9
1:154142914 TPM3 G>A	1	154142914	154142914	G	A	TPM3	c.737C>T	NM_152263.4	NP_689476.2:p.(Ser246Leu)	NC_000001.10:g.154142914G>A	VUS	1 lab	e549fc0a01
17:1576638 PRPF8 G>A	17	1576638	1576638	G	A	PRPF8	c.3657+13C>T	NM_006445.4	NP_006436.3:p.?	NC_000017.10:g.1576638G>A	(Likely) benign	1 lab	e54dc3741d
8:24813749 NEFL A>G	8	24813749	24813749	A	G	NEFL	c.281T>C	NM_006158.5	NP_006149.2:p.(Leu94Pro)	NC_000008.10:g.24813749A>G	(Likely) pathogenic	1 lab	e5504a0aa7
1:214551420 PTPN14 C>T	1	214551420	214551420	C	T	PTPN14	c.2570G>A	NM_005401.5	NP_005392.2:p.(Gly857Asp)	NC_000001.10:g.214551420C>T	(Likely) benign	1 lab	e55300f020
2:167128967 SCN9A A>T	2	167128967	167128967	A	T	SCN9A	c.3260T>A	NM_002977.3	NP_002968.1:p.(Leu1087Ter)	NC_000002.11:g.167128967A>T	VUS	1 lab	e555a87bfb
4:159590915 C4orf46 G>A	4	159590915	159590915	G	A	C4orf46	c.192C>T	NM_001008393.4	NP_001008394.1:p.(Ala64=)	NC_000004.11:g.159590915G>A	(Likely) benign	1 lab	e555bd5417
12:42499825 GXYLT1 A>C	12	42499825	42499825	A	C	GXYLT1	c.659T>G	NM_173601.2	NP_775872.1:p.(Ile220Ser)	NC_000012.11:g.42499825A>C	(Likely) benign	1 lab	e55c22574e
10:75868839 VCL C>T	10	75868839	75868839	C	T	VCL	c.2670C>T	NM_003373.4	NP_003364.1:p.(Ala890=)	NC_000010.10:g.75868839C>T	(Likely) benign	1 lab	e55c98b78b
11:108206686 ATM A>T	11	108206686	108206686	A	T	ATM	c.8266A>T	NM_000051.4	NP_000042.3:p.(Lys2756Ter)	NC_000011.9:g.108206686A>T	(Likely) pathogenic	1 lab	e55e49bd18
X:12735750 FRMPD4 G>A	X	12735750	12735750	G	A	FRMPD4	c.2781G>A	NM_001368401.1	NP_001355330.1:p.(Met927Ile)	NC_000023.10:g.12735750G>A	VUS	1 lab	e56027e3c9
2:179613745 TTN A>G	2	179613745	179613745	A	G	TTN	c.13382T>C	NM_133379.5	NP_596870.2:p.(Ile4461Thr)	NC_000002.11:g.179613745A>G	(Likely) benign	1 lab	e569812af8
9:101907072 TGFBR1 T>C	9	101907072	101907072	T	C	TGFBR1	c.1032T>C	NM_004612.4	NP_004603.1:p.(Asn344=)	NC_000009.11:g.101907072T>C	(Likely) benign	1 lab	e56deee1e6
1:21890709 ALPL C>T	1	21890709	21890709	C	T	ALPL	c.648C>T	NM_000478.6	NP_000469.3:p.(Asp216=)	NC_000001.10:g.21890709C>T	(Likely) benign	1 lab	e57175cdcf
12:49375084 WNT1 C>T	12	49375084	49375084	C	T	WNT1	c.774C>T	NM_005430.4	NP_005421.1:p.(Tyr258=)	NC_000012.11:g.49375084C>T	(Likely) benign	1 lab	e5717a9d3f
1:155629982 YY1AP1 C>T	1	155629982	155629982	C	T	YY1AP1	c.2133G>A	NM_001198903.1	NP_001185832.1:p.(Met711Ile)	NC_000001.10:g.155629982C>T	(Likely) benign	1 lab	e5727905b5
18:28654761 DSC2 C>T	18	28654761	28654761	C	T	DSC2	c.1776G>A	NM_004949.5	NP_004940.1:p.(Ala592=)	NC_000018.9:g.28654761C>T	VUS	1 lab	e573617bb2
19:54656342 CNOT3 CCT>C	19	54656342	54656346	CCT	C	CNOT3	c.1886_1887del	NM_014516.4	NP_055331.1:p.(Ser629Ter)	NC_000019.9:g.54656345_54656346del	(Likely) pathogenic	1 lab	e57e6731e4
9:27190655 TEK G>A	9	27190655	27190655	G	A	TEK	c.1456G>A	NM_000459.5	NP_000450.3:p.(Val486Ile)	NC_000009.11:g.27190655G>A	(Likely) benign	1 lab	e5835bd648
6:32609238 HLA-DQA1 AGGT>A	6	32609238	32609241	AGGT	A	HLA-DQA1	c.235_237del	NM_002122.5	NP_002113.2:p.(Gly79del)	NC_000006.11:g.32609239_32609241del	(Likely) benign	1 lab	e583d964e2
9:94874782 SPTLC1 G>C	9	94874782	94874782	G	C	SPTLC1	c.120C>G	NM_006415.4	NP_006406.1:p.(Phe40Leu)	NC_000009.11:g.94874782G>C	(Likely) benign	1 lab	e58a737e39
15:91292676 BLM T>A	15	91292676	91292676	T	A	BLM	c.178T>A	NM_000057.4	NP_000048.1:p.(Leu60Ile)	NC_000015.9:g.91292676T>A	(Likely) benign	1 lab	e58e7b8f85
11:68183927 LRP5 C>A	11	68183927	68183927	C	A	LRP5	c.1216C>A	NM_001291902.2	NP_001278831.1:p.(Leu406Met)	NC_000011.9:g.68183927C>A	VUS	1 lab	e59221fdb9
4:153249399 FBXW7 T>C	4	153249399	153249399	T	C	FBXW7	c.1379A>G	NM_001349798.2	NP_001336727.1:p.(His460Arg)	NC_000004.11:g.153249399T>C	(Likely) pathogenic	1 lab	e594fb7499
17:15134248 PMP22 G>A	17	15134248	15134248	G	A	PMP22	c.469C>T	NM_000304.4	NP_000295.1:p.(Arg157Trp)	NC_000017.10:g.15134248G>A	(Likely) pathogenic	1 lab	e597d816e9
3:129251121 RHO G>A	3	129251121	129251121	G	A	RHO	c.558G>A	NM_000539.3	NP_000530.1:p.(Ser186=)	NC_000003.11:g.129251121G>A	(Likely) benign	1 lab	e5999d06dd
13:49039122 RB1 G>T	13	49039122	49039122	G	T	RB1	c.2212-12G>T	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49039122G>T	(Likely) benign	1 lab	e59b5b64be
8:144295188 GPIHBP1 C>T	8	144295188	144295188	C	T	GPIHBP1	c.46C>T	NM_178172.6	NP_835466.2:p.(Arg16Trp)	NC_000008.10:g.144295188C>T	VUS	1 lab	e5a188038b
5:155942744 SGCD Ref too long to show for this DEL>T	5	155942744	155961727	Ref too long to show for this DEL	T	SGCD	c.294+7033_294+26015del	NM_000337.6	NP_000328.2:p.?	NC_000005.9:g.155942745_155961727del	VUS	1 lab	e5a28c89e6
12:1009740 WNK1 C>A	12	1009740	1009740	C	A	WNK1	c.7327C>A	NM_001184985.2	NP_001171914.1:p.(Gln2443Lys)	NC_000012.11:g.1009740C>A	VUS	1 lab	e5a2dbd3ab
1:158047810 KIRREL1 G>A	1	158047810	158047810	G	A	KIRREL1	c.232G>A	NM_018240.7	NP_060710.3:p.(Ala78Thr)	NC_000001.10:g.158047810G>A	VUS	1 lab	e5aa13fab0
18:28660190 DSC2 A>C	18	28660190	28660190	A	C	DSC2	c.1392T>G	NM_004949.5	NP_004940.1:p.(Asp464Glu)	NC_000018.9:g.28660190A>C	VUS	1 lab	e5aad2ce30
11:84245583 DLG2 Ref too long to show for this DEL>C	11	84245583	84412706	Ref too long to show for this DEL	C	DLG2	c.358-166931_519+29del	NM_001142699.3	NP_001136171.1:p.?	NC_000011.9:g.84245585_84412706del	VUS	1 lab	e5acf55bb6
19:11224285 LDLR G>A	19	11224285	11224285	G	A	LDLR	c.1433G>A	NM_000527.5	NP_000518.1:p.(Gly478Glu)	NC_000019.9:g.11224285G>A	(Likely) pathogenic	1 lab	e5ae624e6d
19:11218103 LDLR C>T	19	11218103	11218103	C	T	LDLR	c.853C>T	NM_000527.5	NP_000518.1:p.(His285Tyr)	NC_000019.9:g.11218103C>T	VUS	1 lab	e5b07d730b
9:137690059 COL5A1 C>T	9	137690059	137690059	C	T	COL5A1	c.2899-195C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137690059C>T	(Likely) benign	1 lab	e5b3b9c9b1
2:47639610 MSH2 A>G	2	47639610	47639610	A	G	MSH2	c.703A>G	NM_000251.3	NP_000242.1:p.(Lys235Glu)	NC_000002.11:g.47639610A>G	(Likely) benign	1 lab	e5bd2bb6f9
19:33493200 RHPN2 G>A	19	33493200	33493200	G	A	RHPN2	c.1058C>T	NM_033103.5	NP_149094.3:p.(Ala353Val)	NC_000019.9:g.33493200G>A	(Likely) benign	1 lab	e5bd34e168
22:21465660 MISSING Ref too long to show for this DEL>C	22	21465660	22962962	Ref too long to show for this DEL	C	MISSING				NC_000022.10:g.21465662_22962962del	(Likely) pathogenic	1 lab	e5bf0ebf8b
6:107067106 RTN4IP1 G>A	6	107067106	107067106	G	A	RTN4IP1	c.591C>T	NM_032730.5	NP_116119.2:p.(Gly197=)	NC_000006.11:g.107067106G>A	(Likely) benign	1 lab	e5c0e02654
19:33414392 CEP89 T>C	19	33414392	33414392	T	C	CEP89	c.1221A>G	NM_032816.5	NP_116205.3:p.(Glu407=)	NC_000019.9:g.33414392T>C	(Likely) benign	1 lab	e5c1ffefb0
4:2446955 CFAP99 A>T	4	2446955	2446955	A	T	CFAP99	c.562A>T	NM_001193282.4	NP_001180211.2:p.(Lys188Ter)	NC_000004.11:g.2446955A>T	(Likely) benign	1 lab	e5c459b863
10:90762938 FAS G>A	10	90762938	90762938	G	A	FAS	c.183G>A	NM_000043.6	NP_000034.1:p.(Lys61=)	NC_000010.10:g.90762938G>A	(Likely) benign	1 lab	e5f1c5bb07
1:55512290 PCSK9 G>A	1	55512290	55512290	G	A	PCSK9	c.494G>A	NM_174936.4	NP_777596.2:p.(Arg165Gln)	NC_000001.10:g.55512290G>A	(Likely) benign	1 lab	e5c8e86f92
10:76735210 KAT6B C>T	10	76735210	76735210	C	T	KAT6B	c.1115C>T	NM_001370137.1	NP_001357066.1:p.(Pro372Leu)	NC_000010.10:g.76735210C>T	VUS	1 lab	e5ca6b5257
7:82544987 PCLO A>G	7	82544987	82544987	A	G	PCLO	c.12315T>C	NM_033026.6	NP_149015.2:p.(His4105=)	NC_000007.13:g.82544987A>G	(Likely) benign	1 lab	e5cd8e6aec
4:16228012 TAPT1 C>T	4	16228012	16228012	C	T	TAPT1	c.69G>A	NM_153365.3	NP_699196.2:p.(Arg23=)	NC_000004.11:g.16228012C>T	(Likely) benign	1 lab	e5d008fa3c
1:161277082 MPZ C>G	1	161277082	161277082	C	G	MPZ	c.200G>C	NM_000530.8	NP_000521.2:p.(Arg67Pro)	NC_000001.10:g.161277082C>G	(Likely) pathogenic	1 lab	e5d22a8b3a
10:73570264 CDH23 G>A	10	73570264	73570264	G	A	CDH23	c.9015G>A	NM_022124.6	NP_071407.4:p.(Ala3005=)	NC_000010.10:g.73570264G>A	(Likely) benign	1 lab	e5d4751a5b
19:11216263 LDLR C>G	19	11216263	11216263	C	G	LDLR	c.681C>G	NM_000527.5	NP_000518.1:p.(Asp227Glu)	NC_000019.9:g.11216263C>G	(Likely) pathogenic	1 lab	e5db2d6b3a
6:112506434 LAMA4 C>T	6	112506434	112506434	C	T	LAMA4	c.1077+5G>A	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112506434C>T	VUS	1 lab	e5e49e5497
17:75484792 SEPTIN9 C>A	17	75484792	75484792	C	A	SEPTIN9	c.1071-17C>A	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75484792C>A	(Likely) benign	1 lab	e5e7d3a518
6:64516210 EYS T>G	6	64516210	64516210	T	G	EYS	c.7284A>C	NM_001292009.2	NP_001278938.1:p.(Ser2428=)	NC_000006.11:g.64516210T>G	(Likely) benign	1 lab	e5ea008f65
2:179528341 TTN C>G	2	179528341	179528341	C	G	TTN	c.36532+13G>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528341C>G	(Likely) benign	1 lab	e5ea46acbf
15:73615879 HCN4 G>A	15	73615879	73615879	G	A	HCN4	c.2555C>T	NM_005477.3	NP_005468.1:p.(Pro852Leu)	NC_000015.9:g.73615879G>A	VUS	1 lab	e5ecbde3fb
1:21938701 MISSING G>Alt too long to show for this DUP	1	21938701	22028111	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.21938702_22028111dup	VUS	1 lab	e5efe36c8d
20:57478861 GNAS G>A	20	57478861	57478861	G	A	GNAS	c.*293+15G>A	NM_001077490.3	NP_001070958.1:p.?	NC_000020.10:g.57478861G>A	(Likely) benign	1 lab	e5f5cd91fa
2:21229261 APOB C>T	2	21229261	21229261	C	T	APOB	c.10479G>A	NM_000384.3	NP_000375.3:p.(Glu3493=)	NC_000002.11:g.21229261C>T	(Likely) benign	1 lab	e5f61cf407
7:94037222 COL1A2 A>T	7	94037222	94037222	A	T	COL1A2	c.639+19A>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037222A>T	(Likely) benign	1 lab	e5f8c11fa7
8:19796671 LPL T>G	8	19796671	19796671	T	G	LPL				NC_000008.10:g.19796671T>G	(Likely) benign	1 lab	e5ff63c158
22:23915583 IGLL1 T>C	22	23915583	23915583	T	C	IGLL1	c.512A>G	NM_020070.4	NP_064455.1:p.(Asn171Ser)	NC_000022.10:g.23915583T>C	(Likely) benign	1 lab	e6017a6991
16:88495912 ZNF469 C>T	16	88495912	88495912	C	T	ZNF469	c.2034C>T	NM_001367624.2	NP_001354553.1:p.(Ala678=)	NC_000016.9:g.88495912C>T	(Likely) benign	1 lab	e602af5370
2:179412362 TTN C>T	2	179412362	179412362	C	T	TTN	c.93991G>A	NM_001267550.2	NP_001254479.2:p.(Gly31331Arg)	NC_000002.11:g.179412362C>T	(Likely) benign	1 lab	e60566d9b1
4:88450063 MISSING Ref too long to show for this DEL>A	4	88450063	88504337	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.88450064_88504337del	VUS	1 lab	e6072ec4a9
1:185985074 HMCN1 CTA>C	1	185985074	185985077	CTA	C	HMCN1	c.4910-14_4910-13del	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.185985076_185985077del	(Likely) benign	1 lab	e6073f730b
9:79835312 VPS13A AT>A	9	79835312	79835327	AT	A	VPS13A	c.989+28del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79835327del	(Likely) benign	1 lab	e611a53805
16:67974314 LCAT G>A	16	67974314	67974314	G	A	LCAT	c.816C>T	NM_000229.2	NP_000220.1:p.(Thr272=)	NC_000016.9:g.67974314G>A	(Likely) benign	1 lab	e615ddf36e
5:149435895 CSF1R G>A	5	149435895	149435895	G	A	CSF1R	c.2329C>T	NM_001349736.2	NP_001336665.1:p.(Arg777Trp)	NC_000005.9:g.149435895G>A	(Likely) pathogenic	1 lab	e61ae0cda8
10:114710525 TCF7L2 C>T	10	114710525	114710525	C	T	TCF7L2	c.10C>T	NM_001198525.2	NP_001185454.1:p.(Leu4=)	NC_000010.10:g.114710525C>T	(Likely) benign	1 lab	e61b1e2b27
15:85383893 ALPK3 C>T	15	85383893	85383893	C	T	ALPK3	c.1383C>T	NM_020778.5	NP_065829.4:p.(Gly461=)	NC_000015.9:g.85383893C>T	(Likely) benign	1 lab	e621ed438a
16:920989 LMF1 G>A	16	920989	920989	G	A	LMF1	c.680-107C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.920989G>A	(Likely) benign	1 lab	e62271d933
2:189864358 COL3A1 A>G	2	189864358	189864358	A	G	COL3A1	c.2229+55A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189864358A>G	(Likely) benign	1 lab	e6246a6415
16:31104878 VKORC1 G>A	16	31104878	31104878	G	A	VKORC1	c.174-136C>T	NM_001311311.2	NP_001298240.1:p.?	NC_000016.9:g.31104878G>A	(Likely) benign	1 lab	e628b7945b
6:74047001 MISSING A>Alt too long to show for this DUP	6	74047001	74080257	A	Alt too long to show for this DUP	MISSING				NC_000006.11:g.74047002_74080257dup	VUS	1 lab	e628c58e5d
11:121415977 SORL1 C>T	11	121415977	121415977	C	T	SORL1	c.1890C>T	NM_003105.6	NP_003096.2:p.(Tyr630=)	NC_000011.9:g.121415977C>T	(Likely) benign	1 lab	e632605cec
15:78401797 CIB2 A>G	15	78401797	78401797	A	G	CIB2	c.141T>C	NM_001301224.2	NP_001288153.1:p.(Ala47=)	NC_000015.9:g.78401797A>G	(Likely) benign	1 lab	e63496d2b4
19:11222108 LDLR G>C	19	11222108	11222108	G	C	LDLR	c.1061-82G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222108G>C	(Likely) benign	1 lab	e63777b54d
6:10770470 MAK ACATAT>A	6	10770470	10770479	ACATAT	A	MAK	c.1673-12_1673-8del	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10770475_10770479del	(Likely) benign	1 lab	e63eff0a18
10:88441364 LDB3 C>T	10	88441364	88441364	C	T	LDB3	c.493C>T	NM_001171610.2	NP_001165081.1:p.(Arg165Trp)	NC_000010.10:g.88441364C>T	(Likely) benign	1 lab	e64920bdf1
18:74380640 MISSING A>Alt too long to show for this DUP	18	74380640	74550196	A	Alt too long to show for this DUP	MISSING				NC_000018.9:g.74380643_74550196dup	VUS	1 lab	e649c9c9d2
1:103385921 COL11A1 C>T	1	103385921	103385921	C	T	COL11A1	c.3745-1G>A	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103385921C>T	(Likely) pathogenic	1 lab	e649d00405
1:915440 PERM1 A>G	1	915440	915440	A	G	PERM1	c.970T>C	NM_001291366.2	NP_001278295.1:p.(Ser324Pro)	NC_000001.10:g.915440A>G	VUS	1 lab	e64af89fe1
6:100841740 SIM1 G>A	6	100841740	100841740	G	A	SIM1	c.1193C>T	NM_005068.3	NP_005059.2:p.(Ser398Leu)	NC_000006.11:g.100841740G>A	VUS	1 lab	e64e676c3a
9:32541535 TOPORS G>A	9	32541535	32541535	G	A	TOPORS	c.2988C>T	NM_005802.5	NP_005793.2:p.(Leu996=)	NC_000009.11:g.32541535G>A	(Likely) benign	1 lab	e658069116
2:172364349 MISSING C>Alt too long to show for this DUP	2	172364349	172419467	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.172364350_172419467dup	VUS	1 lab	e658c84d39
12:5153507 KCNA5 G>C	12	5153507	5153507	G	C	KCNA5	c.194G>C	NM_002234.4	NP_002225.2:p.(Arg65Pro)	NC_000012.11:g.5153507G>C	VUS	1 lab	e658dcfe13
10:55582072 PCDH15 G>A	10	55582072	55582072	G	A	PCDH15	c.5435C>T	NM_001142763.2	NP_001136235.1:p.(Pro1812Leu)	NC_000010.10:g.55582072G>A	(Likely) benign	1 lab	e659db75fa
17:48274529 COL1A1 C>A	17	48274529	48274529	C	A	COL1A1	c.750+12G>T	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48274529C>A	(Likely) benign	1 lab	e65a716d62
7:100276310 GNB2 C>A	7	100276310	100276310	C	A	GNB2	c.917-8C>A	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100276310C>A	(Likely) benign	1 lab	e65a972648
17:36483019 GPR179 G>A	17	36483019	36483019	G	A	GPR179	c.6433C>T	NM_001004334.4	NP_001004334.3:p.(Gln2145Ter)	NC_000017.10:g.36483019G>A	VUS	1 lab	e66079a804
9:135206456 SETX G>A	9	135206456	135206456	G	A	SETX	c.1081C>T	NM_015046.7	NP_055861.3:p.(Pro361Ser)	NC_000009.11:g.135206456G>A	(Likely) benign	1 lab	e663ad7e31
2:85510662 TCF7L1 C>T	2	85510662	85510662	C	T	TCF7L1	c.486C>T	NM_031283.3	NP_112573.1:p.(Ala162=)	NC_000002.11:g.85510662C>T	(Likely) benign	1 lab	e66644e6ac
19:11221380 LDLR C>T	19	11221380	11221380	C	T	LDLR	c.993C>T	NM_000527.5	NP_000518.1:p.(Asp331=)	NC_000019.9:g.11221380C>T	(Likely) benign	1 lab	e66e8b0957
2:21232016 APOB T>A	2	21232016	21232016	T	A	APOB	c.7724A>T	NM_000384.3	NP_000375.3:p.(Lys2575Ile)	NC_000002.11:g.21232016T>A	VUS	1 lab	e67289cddc
2:21229000 APOB G>C	2	21229000	21229000	G	C	APOB	c.10740C>G	NM_000384.3	NP_000375.3:p.(Asn3580Lys)	NC_000002.11:g.21229000G>C	VUS	1 lab	e672bd99d8
19:11223683 LDLR T>TG	19	11223683	11223684	T	TG	LDLR	c.1187-271_1187-270insG	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223683_11223684insG	(Likely) benign	1 lab	e6733cd340
20:400043 RBCK1 C>T	20	400043	400043	C	T	RBCK1	c.513C>T	NM_031229.4	NP_112506.2:p.(Gly171=)	NC_000020.10:g.400043C>T	(Likely) benign	1 lab	e6733d4d42
4:100503154 MTTP C>T	4	100503154	100503154	C	T	MTTP	c.154C>T	NM_000253.4	NP_000244.2:p.(Gln52Ter)	NC_000004.11:g.100503154C>T	(Likely) pathogenic	1 lab	e6779b3602
2:27306224 EMILIN1 T>C	2	27306224	27306224	T	C	EMILIN1	c.1785T>C	NM_007046.4	NP_008977.1:p.(Leu595=)	NC_000002.11:g.27306224T>C	(Likely) benign	1 lab	e678f954d6
20:62612640 PRPF6 C>T	20	62612640	62612640	C	T	PRPF6	c.42C>T	NM_012469.4	NP_036601.2:p.(Pro14=)	NC_000020.10:g.62612640C>T	(Likely) benign	1 lab	e67ce15cf5
16:81410850 GAN T>G	16	81410850	81410850	T	G	GAN	c.1529T>G	NM_022041.4	NP_071324.1:p.(Leu510Ter)	NC_000016.9:g.81410850T>G	(Likely) pathogenic	1 lab	e6851610ba
19:10939797 DNM2 A>G	19	10939797	10939797	A	G	DNM2	c.2144A>G	NM_001005360.3	NP_001005360.1:p.(Gln715Arg)	NC_000019.9:g.10939797A>G	VUS	1 lab	e688b88b09
1:63069815 ANGPTL3 C>T	1	63069815	63069815	C	T	ANGPTL3	c.1107C>T	NM_014495.4	NP_055310.1:p.(Val369=)	NC_000001.10:g.63069815C>T	(Likely) benign	1 lab	e68a46d619
21:27284273 APP A>G	21	27284273	27284273	A	G	APP	c.1689T>C	NM_000484.4	NP_000475.1:p.(Asp563=)	NC_000021.8:g.27284273A>G	VUS	1 lab	e68c84a789
15:31358283 TRPM1 G>A	15	31358283	31358283	G	A	TRPM1	c.837C>T	NM_001252020.2	NP_001238949.1:p.(Asn279=)	NC_000015.9:g.31358283G>A	(Likely) benign	1 lab	e690879845
2:44052035 ABCG5 G>A	2	44052035	44052035	G	A	ABCG5	c.897C>T	NM_022436.3	NP_071881.1:p.(Asp299=)	NC_000002.11:g.44052035G>A	(Likely) benign	1 lab	e6923995ea
2:238434342 MLPH G>A	2	238434342	238434342	G	A	MLPH	c.774G>A	NM_024101.7	NP_077006.1:p.(Pro258=)	NC_000002.11:g.238434342G>A	(Likely) benign	1 lab	e695769ff9
16:88502208 ZNF469 A>T	16	88502208	88502208	A	T	ZNF469	c.8330A>T	NM_001367624.2	NP_001354553.1:p.(Asp2777Val)	NC_000016.9:g.88502208A>T	(Likely) benign	1 lab	e6a3c834f6
17:57287667 SMG8 T>C	17	57287667	57287667	T	C	SMG8	c.255T>C	NM_018149.7	NP_060619.4:p.(Pro85=)	NC_000017.10:g.57287667T>C	(Likely) benign	1 lab	e6a57a066c
9:107599412 ABCA1 AAGG>A	9	107599412	107599420	AAGG	A	ABCA1	c.1195-38_1195-36del	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107599418_107599420del	(Likely) benign	1 lab	e6a91da584
17:63133673 RGS9 C>T	17	63133673	63133673	C	T	RGS9	c.15C>T	NM_003835.4	NP_003826.2:p.(His5=)	NC_000017.10:g.63133673C>T	(Likely) benign	1 lab	e6ac33beef
17:76127738 TMC8 G>A	17	76127738	76127738	G	A	TMC8	c.69G>A	NM_152468.5	NP_689681.2:p.(Glu23=)	NC_000017.10:g.76127738G>A	(Likely) benign	1 lab	e6b585c93f
6:65622465 EYS G>A	6	65622465	65622465	G	A	EYS	c.2553C>T	NM_001292009.2	NP_001278938.1:p.(Asn851=)	NC_000006.11:g.65622465G>A	(Likely) benign	1 lab	e6b77079f4
4:126384737 FAT4 A>G	4	126384737	126384737	A	G	FAT4	c.11820A>G	NM_001291303.3	NP_001278232.1:p.(Ser3940=)	NC_000004.11:g.126384737A>G	(Likely) benign	1 lab	e6cb51a102
9:137701084 COL5A1 G>A	9	137701084	137701084	G	A	COL5A1	c.3422G>A	NM_000093.5	NP_000084.3:p.(Gly1141Glu)	NC_000009.11:g.137701084G>A	(Likely) pathogenic	1 lab	e6cbd8c802
8:59410812 CYP7A1 T>C	8	59410812	59410812	T	C	CYP7A1	c.297A>G	NM_000780.4	NP_000771.2:p.(Lys99=)	NC_000008.10:g.59410812T>C	(Likely) benign	1 lab	e6d320ef22
11:27695712 BDNF G>A	11	27695712	27695712	G	A	BDNF	c.120C>T	NM_001143810.2	NP_001137282.1:p.(His40=)	NC_000011.9:g.27695712G>A	(Likely) benign	1 lab	e6d4f9ff80
9:107550316 ABCA1 C>T	9	107550316	107550316	C	T	ABCA1	c.6089G>A	NM_005502.4	NP_005493.2:p.(Arg2030Gln)	NC_000009.11:g.107550316C>T	VUS	1 lab	e6d60b45c4
4:9270511 USP17L22 A>G	4	9270511	9270511	A	G	USP17L22	c.1167A>G	NM_001256863.1	NP_001243792.1:p.(Arg389=)	NC_000004.11:g.9270511A>G	(Likely) benign	1 lab	e6d7243a70
X:70443640 GJB1 T>C	X	70443640	70443640	T	C	GJB1	c.83T>C	NM_000166.6	NP_000157.1:p.(Ile28Thr)	NC_000023.10:g.70443640T>C	(Likely) pathogenic	1 lab	e6d76ccc55
4:65170892 TECRL G>A	4	65170892	65170892	G	A	TECRL	c.722C>T	NM_001010874.5	NP_001010874.2:p.(Thr241Ile)	NC_000004.11:g.65170892G>A	VUS	1 lab	e6da0792bf
9:130588154 ENG G>A	9	130588154	130588154	G	A	ENG	c.524-15C>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130588154G>A	(Likely) benign	1 lab	e6da68600b
11:32452001 WT1 G>GGAGAGA	11	32452001	32452037	G	GGAGAGA	WT1	c.662-1842_662-1837dup	NM_024426.6	NP_077744.4:p.?	NC_000011.9:g.32452032_32452037dup	(Likely) benign	1 lab	e6dd249483
19:50766634 MYH14 A>G	19	50766634	50766634	A	G	MYH14	c.2651A>G	NM_001145809.2	NP_001139281.1:p.(Tyr884Cys)	NC_000019.9:g.50766634A>G	VUS	1 lab	e6e17f7795
11:88924366 TYR AC>A	11	88924366	88924367	AC	A	TYR	c.820-3del	NM_000372.5	NP_000363.1:p.?	NC_000011.9:g.88924367del	(Likely) pathogenic	1 lab	e6e89ca472
16:919907 LMF1 C>A	16	919907	919907	C	A	LMF1	c.993G>T	NM_001352018.2	NP_001338947.1:p.(Trp331Cys)	NC_000016.9:g.919907C>A	VUS	1 lab	e6e8d51a7a
19:43031369 CEACAM1 G>A	19	43031369	43031369	G	A	CEACAM1	c.248C>T	NM_001712.5	NP_001703.2:p.(Ala83Val)	NC_000019.9:g.43031369G>A	(Likely) benign	1 lab	e6ea9c4812
X:114869248 PLS3 A>T	X	114869248	114869248	A	T	PLS3	c.638A>T	NM_005032.7	NP_005023.2:p.(Asn213Ile)	NC_000023.10:g.114869248A>T	VUS	1 lab	e6efc74f37
16:11643394 LITAF G>A	16	11643394	11643394	G	A	LITAF	n.719C>T	NR_024320.2		NC_000016.9:g.11643394G>A	(Likely) benign	1 lab	e6f1f45fe8
8:55541334 RP1 C>G	8	55541334	55541334	C	G	RP1	c.4892C>G	NM_006269.2	NP_006260.1:p.(Ala1631Gly)	NC_000008.10:g.55541334C>G	VUS	1 lab	e6f2a46bf6
18:58039087 MC4R C>T	18	58039087	58039087	C	T	MC4R	c.496G>A	NM_005912.3	NP_005903.2:p.(Val166Ile)	NC_000018.9:g.58039087C>T	VUS	1 lab	e6f3dd4329
8:14682112 MISSING Ref too long to show for this DEL>T	8	14682112	16525498	Ref too long to show for this DEL	T	MISSING				NC_000008.10:g.14682113_16525498del	VUS	1 lab	e6f52a76d2
19:11221366 LDLR C>CA	19	11221366	11221367	C	CA	LDLR	c.980dup	NM_000527.5	NP_000518.1:p.(His327GlnfsTer5)	NC_000019.9:g.11221367dup	(Likely) pathogenic	1 lab	e6f806fb36
14:67779432 PALS1 G>C	14	67779432	67779432	G	C	PALS1	c.1225+5G>C	NM_022474.4	NP_071919.2:p.?	NC_000014.8:g.67779432G>C	VUS	1 lab	e6fbb9f67f
14:76432050 TGFB3 G>C	14	76432050	76432050	G	C	TGFB3	c.647-12C>G	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76432050G>C	(Likely) benign	1 lab	e6fd83e672
20:42788720 JPH2 C>T	20	42788720	42788720	C	T	JPH2	c.707G>A	NM_020433.5	NP_065166.2:p.(Arg236His)	NC_000020.10:g.42788720C>T	VUS	1 lab	e70084a3a5
3:37061831 MLH1 T>C	3	37061831	37061831	T	C	MLH1	c.915T>C	NM_000249.4	NP_000240.1:p.(Val305=)	NC_000003.11:g.37061831T>C	(Likely) benign	1 lab	e70326b1d8
3:52422540 DNAH1 C>G	3	52422540	52422540	C	G	DNAH1	c.9278C>G	NM_015512.5	NP_056327.4:p.(Ala3093Gly)	NC_000003.11:g.52422540C>G	VUS	1 lab	e703542344
17:29556369 NF1 A>G	17	29556369	29556369	A	G	NF1	c.2736A>G	NM_001042492.3	NP_001035957.1:p.(Gln912=)	NC_000017.10:g.29556369A>G	(Likely) benign	1 lab	e704173b46
2:179416813 TTN A>T	2	179416813	179416813	A	T	TTN	c.90814T>A	NM_001267550.2	NP_001254479.2:p.(Trp30272Arg)	NC_000002.11:g.179416813A>T	VUS	1 lab	e70878f3a2
7:128482679 FLNC C>T	7	128482679	128482679	C	T	FLNC	c.2316C>T	NM_001458.5	NP_001449.3:p.(Pro772=)	NC_000007.13:g.128482679C>T	(Likely) benign	1 lab	e709900e9e
14:57352928 MISSING A>Alt too long to show for this DUP	14	57352928	57526155	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.57352931_57526155dup	VUS	1 lab	e70fef9c70
12:21375306 SLCO1B1 GA>G	12	21375306	21375332	GA	G	SLCO1B1	c.1747+34del	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21375332del	(Likely) benign	1 lab	e7131b1667
8:113516208 CSMD3 TG>T	8	113516208	113516209	TG	T	CSMD3	c.4896-3del	NM_198123.2	NP_937756.1:p.?	NC_000008.10:g.113516209del	(Likely) benign	1 lab	e71459a1b7
2:44098565 ABCG8 G>A	2	44098565	44098565	G	A	ABCG8	c.965-550G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44098565G>A	(Likely) benign	1 lab	e715ccb359
10:90701048 ACTA2 C>T	10	90701048	90701048	C	T	ACTA2	c.554G>A	NM_001141945.2	NP_001135417.1:p.(Arg185Gln)	NC_000010.10:g.90701048C>T	(Likely) pathogenic	1 lab	e719d8d9fa
8:19813628 LPL A>G	8	19813628	19813628	A	G	LPL	c.1018+34A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19813628A>G	(Likely) benign	1 lab	e71e328f98
6:123824984 TRDN C>T	6	123824984	123824984	C	T	TRDN	c.673G>A	NM_006073.4	NP_006064.2:p.(Gly225Arg)	NC_000006.11:g.123824984C>T	VUS	1 lab	e7215d2acf
6:152469431 SYNE1 T>C	6	152469431	152469431	T	C	SYNE1	c.24725A>G	NM_182961.4	NP_892006.3:p.(Asp8242Gly)	NC_000006.11:g.152469431T>C	VUS	1 lab	e7224477ec
13:32910485 BRCA2 A>G	13	32910485	32910485	A	G	BRCA2	c.1993A>G	NM_000059.4	NP_000050.3:p.(Thr665Ala)	NC_000013.10:g.32910485A>G	(Likely) benign	1 lab	e72609a1d0
4:113359752 ALPK1 G>A	4	113359752	113359752	G	A	ALPK1	c.3301G>A	NM_025144.4	NP_079420.3:p.(Glu1101Lys)	NC_000004.11:g.113359752G>A	(Likely) benign	1 lab	e7280b6b48
16:67973819 LCAT C>T	16	67973819	67973819	C	T	LCAT	c.1311G>A	NM_000229.2	NP_000220.1:p.(Pro437=)	NC_000016.9:g.67973819C>T	(Likely) benign	1 lab	e72817660c
16:68863612 CDH1 G>A	16	68863612	68863612	G	A	CDH1	c.2351G>A	NM_004360.5	NP_004351.1:p.(Arg784His)	NC_000016.9:g.68863612G>A	VUS	1 lab	e7296bd3b7
4:655932 PDE6B C>T	4	655932	655932	C	T	PDE6B	c.1624C>T	NM_000283.4	NP_000274.3:p.(Arg542Trp)	NC_000004.11:g.655932C>T	VUS	1 lab	e8d942af89
6:7580800 DSP A>G	6	7580800	7580800	A	G	DSP	c.4377A>G	NM_004415.4	NP_004406.2:p.(Thr1459=)	NC_000006.11:g.7580800A>G	(Likely) benign	1 lab	e72c09a7fd
2:179464466 TTN G>A	2	179464466	179464466	G	A	TTN	c.56162C>T	NM_001267550.2	NP_001254479.2:p.(Ala18721Val)	NC_000002.11:g.179464466G>A	VUS	1 lab	e72f8594e9
6:32489882 HLA-DRB5 T>A	6	32489882	32489882	T	A	HLA-DRB5	c.170A>T	NM_002125.4	NP_002116.2:p.(His57Leu)	NC_000006.11:g.32489882T>A	(Likely) benign	1 lab	e7306762be
11:47369043 MYBPC3 AC>A	11	47369043	47369048	AC	A	MYBPC3	c.852-14del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369048del	(Likely) benign	1 lab	e731f4f033
1:11199631 MTOR A>T	1	11199631	11199631	A	T	MTOR	c.4957T>A	NM_004958.4	NP_004949.1:p.(Trp1653Arg)	NC_000001.10:g.11199631A>T	(Likely) benign	1 lab	e7352d7dc8
17:75277978 SEPTIN9 T>A	17	75277978	75277978	T	A	SEPTIN9	c.19+342T>A	NM_001113491.2	NP_001106963.1:p.?	NC_000017.10:g.75277978T>A	(Likely) benign	1 lab	e735b9557a
1:235973169 LYST C>T	1	235973169	235973169	C	T	LYST	c.949G>A	NM_001301365.1	NP_001288294.1:p.(Glu317Lys)	NC_000001.10:g.235973169C>T	VUS	1 lab	e737ad57c0
3:148930310 CP G>A	3	148930310	148930310	G	A	CP	c.322C>T	NM_000096.4	NP_000087.2:p.(His108Tyr)	NC_000003.11:g.148930310G>A	VUS	1 lab	e73a50e758
19:3595076 TBXA2R T>TA	19	3595076	3595093	T	TA	TBXA2R	c.*609dup	NM_001060.6	NP_001051.1:p.?	NC_000019.9:g.3595093dup	(Likely) benign	1 lab	e73edb762a
1:6579653 PLEKHG5 G>C	1	6579653	6579653	G	C	PLEKHG5	c.-313C>G	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6579653G>C	(Likely) benign	1 lab	e73fafcd05
16:918962 LMF1 G>A	16	918962	918962	G	A	LMF1	c.1112C>T	NM_001352018.2	NP_001338947.1:p.(Ala371Val)	NC_000016.9:g.918962G>A	VUS	1 lab	e741257d98
2:56104927 EFEMP1 C>T	2	56104927	56104927	C	T	EFEMP1	c.714G>A	NM_001039348.3	NP_001034437.1:p.(Gln238=)	NC_000002.11:g.56104927C>T	(Likely) benign	1 lab	e753f9f107
17:48263848 COL1A1 TG>T	17	48263848	48263852	TG	T	COL1A1	c.3834del	NM_000088.4	NP_000079.2:p.(Asn1279ThrfsTer52)	NC_000017.10:g.48263852del	(Likely) pathogenic	1 lab	e757d9f9b3
18:47107813 MISSING Ref too long to show for this DEL>T	18	47107813	47296236	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.47107814_47296236del	VUS	1 lab	e75d1ce62b
12:50499344 GPD1 A>C	12	50499344	50499344	A	C	GPD1	c.233A>C	NM_005276.4	NP_005267.2:p.(Asp78Ala)	NC_000012.11:g.50499344A>C	VUS	1 lab	e75df2c27f
1:63069797 ANGPTL3 T>G	1	63069797	63069797	T	G	ANGPTL3	c.1089T>G	NM_014495.4	NP_055310.1:p.(Val363=)	NC_000001.10:g.63069797T>G	(Likely) benign	1 lab	e75df790f8
11:47361597 MYBPC3 C>T	11	47361597	47361597	C	T	MYBPC3	c.1928-256G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361597C>T	(Likely) benign	1 lab	e75f0db8ba
9:137658708 COL5A1 G>A	9	137658708	137658708	G	A	COL5A1	c.2134-138G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658708G>A	(Likely) benign	1 lab	e76635d478
18:67753915 RTTN T>C	18	67753915	67753915	T	C	RTTN	c.4308A>G	NM_173630.4	NP_775901.3:p.(Ala1436=)	NC_000018.9:g.67753915T>C	(Likely) benign	1 lab	e7688ac580
15:48738594 FBN1 T>C	15	48738594	48738594	T	C	FBN1	c.5788+309A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48738594T>C	(Likely) benign	1 lab	e76de7ebe3
4:73205253 ADAMTS3 G>T	4	73205253	73205253	G	T	ADAMTS3	c.819C>A	NM_014243.3	NP_055058.2:p.(Gly273=)	NC_000004.11:g.73205253G>T	(Likely) benign	1 lab	e772a10841
6:43738977 VEGFA C>T	6	43738977	43738977	C	T	VEGFA	c.534C>T	NM_001025366.3	NP_001020537.2:p.(Ser178=)	NC_000006.11:g.43738977C>T	(Likely) benign	1 lab	e774bdb777
13:52542755 ATP7B A>G	13	52542755	52542755	A	G	ATP7B	c.1544-12T>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542755A>G	(Likely) benign	1 lab	e774ec852d
10:12142286 DHTKD1 G>GTTTTT	10	12142286	12142300	G	GTTTTT	DHTKD1	c.1756+35_1756+39dup	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12142296_12142300dup	(Likely) benign	1 lab	e7750c804f
12:12022499 ETV6 G>A	12	12022499	12022499	G	A	ETV6	c.605G>A	NM_001987.5	NP_001978.1:p.(Arg202Gln)	NC_000012.11:g.12022499G>A	VUS	1 lab	e778e36921
12:21331507 SLCO1B1 T>C	12	21331507	21331507	T	C	SLCO1B1	c.482-3T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21331507T>C	(Likely) benign	1 lab	e77f0b7211
19:11238762 LDLR G>A	19	11238762	11238762	G	A	LDLR	c.2389+1G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11238762G>A	(Likely) pathogenic	1 lab	e780d94263
9:139408964 NOTCH1 G>A	9	139408964	139408964	G	A	NOTCH1	c.2205C>T	NM_017617.5	NP_060087.3:p.(Asn735=)	NC_000009.11:g.139408964G>A	(Likely) benign	1 lab	e784787e82
22:26937390 TPST2 C>T	22	26937390	26937390	C	T	TPST2	c.369G>A	NM_001362923.2	NP_001349852.1:p.(Pro123=)	NC_000022.10:g.26937390C>T	(Likely) benign	1 lab	e786e007dd
8:133899438 TG C>T	8	133899438	133899438	C	T	TG	c.1821C>T	NM_003235.5	NP_003226.4:p.(Thr607=)	NC_000008.10:g.133899438C>T	(Likely) benign	1 lab	e7881da26a
7:128485071 FLNC C>G	7	128485071	128485071	C	G	FLNC	c.3552C>G	NM_001458.5	NP_001449.3:p.(Gly1184=)	NC_000007.13:g.128485071C>G	(Likely) benign	1 lab	e7938decc3
2:105984202 FHL2 A>G	2	105984202	105984202	A	G	FHL2	c.332-6T>C	NM_201555.2	NP_963849.1:p.?	NC_000002.11:g.105984202A>G	(Likely) benign	1 lab	e79c25f2ae
7:128043745 IMPDH1 G>A	7	128043745	128043745	G	A	IMPDH1	c.402+15C>T	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128043745G>A	(Likely) benign	1 lab	e79dd4a158
10:124266217 HTRA1 C>T	10	124266217	124266217	C	T	HTRA1	c.788C>T	NM_002775.5	NP_002766.1:p.(Pro263Leu)	NC_000010.10:g.124266217C>T	VUS	1 lab	e7a04304d1
4:22444327 ADGRA3 G>A	4	22444327	22444327	G	A	ADGRA3	c.866C>T	NM_145290.4	NP_660333.2:p.(Ser289Leu)	NC_000004.11:g.22444327G>A	(Likely) benign	1 lab	e7a0fa35e0
3:129695578 TRH G>A	3	129695578	129695578	G	A	TRH	c.248G>A	NM_007117.5	NP_009048.1:p.(Arg83His)	NC_000003.11:g.129695578G>A	(Likely) benign	1 lab	e7a40b652e
1:66103042 LEPR A>AAC	1	66103042	66103061	A	AAC	LEPR	c.*362_*363dup	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66103060_66103061dup	(Likely) benign	1 lab	e7a8a7e2f0
22:25121409 PIWIL3 G>A	22	25121409	25121409	G	A	PIWIL3	c.2107+3C>T	NM_001008496.3	NP_001008496.2:p.?	NC_000022.10:g.25121409G>A	(Likely) benign	1 lab	e7ae7f0e4a
19:11226944 LDLR C>T	19	11226944	11226944	C	T	LDLR	c.1705+56C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11226944C>T	(Likely) benign	1 lab	e7afc3dd58
9:107564447 ABCA1 G>T	9	107564447	107564447	G	T	ABCA1	c.4593-7C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564447G>T	(Likely) benign	1 lab	e7b2bf3606
2:44102514 ABCG8 C>T	2	44102514	44102514	C	T	ABCG8	c.1718C>T	NM_022437.3	NP_071882.1:p.(Ala573Val)	NC_000002.11:g.44102514C>T	VUS	1 lab	e801f5b982
19:9006416 MUC16 T>A	19	9006416	9006416	T	A	MUC16	c.39607-5A>T	NM_024690.2	NP_078966.2:p.?	NC_000019.9:g.9006416T>A	(Likely) benign	1 lab	e7bfd65978
4:78738694 MISSING A>Alt too long to show for this DUP	4	78738694	78991030	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.78738695_78991030dup	VUS	1 lab	e7c171bf63
7:150647021 KCNH2 C>T	7	150647021	150647021	C	T	KCNH2	c.2633G>A	NM_172056.2	NP_742053.1:p.(Arg878His)	NC_000007.13:g.150647021C>T	VUS	1 lab	e7c18e9445
8:68062182 CSPP1 CTTTT>C	8	68062182	68062206	CTTTT	C	CSPP1	c.1079-4056_1079-4053del	NM_001291339.2	NP_001278268.1:p.?	NC_000008.10:g.68062203_68062206del	(Likely) benign	1 lab	e7c198bc35
10:97388162 ALDH18A1 G>A	10	97388162	97388162	G	A	ALDH18A1	c.896C>T	NM_002860.4	NP_002851.2:p.(Thr299Ile)	NC_000010.10:g.97388162G>A	(Likely) benign	1 lab	e7c2569e5e
17:75485136 SEPTIN9 CA>C	17	75485136	75485138	CA	C	SEPTIN9	c.1208+192del	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75485138del	(Likely) benign	1 lab	e7c2c2aab2
1:161276216 MPZ C>T	1	161276216	161276216	C	T	MPZ	c.487G>A	NM_000530.8	NP_000521.2:p.(Gly163Arg)	NC_000001.10:g.161276216C>T	(Likely) pathogenic	1 lab	e7c39fd605
7:94037553 COL1A2 G>T	7	94037553	94037553	G	T	COL1A2	c.693+5G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037553G>T	(Likely) pathogenic	1 lab	e7c4714867
2:179441346 TTN T>A	2	179441346	179441346	T	A	TTN	c.69625A>T	NM_001267550.2	NP_001254479.2:p.(Thr23209Ser)	NC_000002.11:g.179441346T>A	VUS	1 lab	e7ccd1393f
4:114286355 ANK2 GTA>G	4	114286355	114286358	GTA	G	ANK2	c.11032+19_11032+20del	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286357_114286358del	(Likely) benign	1 lab	e7d13ca5b6
12:48381374 COL2A1 C>G	12	48381374	48381374	C	G	COL2A1	c.1221+20G>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48381374C>G	(Likely) benign	1 lab	e7d47b188a
10:68535195 CTNNA3 C>A	10	68535195	68535195	C	A	CTNNA3	c.1128+7G>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535195C>A	VUS	1 lab	e7d6c12367
2:196728909 DNAH7 A>T	2	196728909	196728909	A	T	DNAH7	c.7470T>A	NM_018897.3	NP_061720.2:p.(Pro2490=)	NC_000002.11:g.196728909A>T	(Likely) benign	1 lab	e7d7193d1c
1:236902822 ACTN2 AGATG>A	1	236902822	236902827	AGATG	A	ACTN2	c.1099_1102del	NM_001103.4	NP_001094.1:p.(Met367CysfsTer67)	NC_000001.10:g.236902824_236902827del	(Likely) pathogenic	1 lab	e7df835560
18:10705618 PIEZO2 G>A	18	10705618	10705618	G	A	PIEZO2	c.5376C>T	NM_022068.4	NP_071351.2:p.(Tyr1792=)	NC_000018.9:g.10705618G>A	(Likely) benign	1 lab	e7e33d62a4
5:121406346 LOX A>C	5	121406346	121406346	A	C	LOX	c.1036-62T>G	NM_002317.7	NP_002308.2:p.?	NC_000005.9:g.121406346A>C	(Likely) benign	1 lab	e7e3c76325
7:128491637 FLNC G>A	7	128491637	128491637	G	A	FLNC	c.5797G>A	NM_001458.5	NP_001449.3:p.(Asp1933Asn)	NC_000007.13:g.128491637G>A	VUS	1 lab	e7edc08465
18:28671116 DSC2 T>C	18	28671116	28671116	T	C	DSC2	c.355-6A>G	NM_004949.5	NP_004940.1:p.?	NC_000018.9:g.28671116T>C	VUS	1 lab	e7f0f57e66
14:23884467 MYH7 C>G	14	23884467	23884467	C	G	MYH7	c.5296G>C	NM_000257.4	NP_000248.2:p.(Ala1766Pro)	NC_000014.8:g.23884467C>G	VUS	1 lab	e7f76ebe12
9:107556713 ABCA1 C>T	9	107556713	107556713	C	T	ABCA1	c.5461G>A	NM_005502.4	NP_005493.2:p.(Asp1821Asn)	NC_000009.11:g.107556713C>T	VUS	1 lab	e7fde8236c
7:91708801 AKAP9 AACGT>A	7	91708801	91708805	AACGT	A	AKAP9	c.7355_7358del	NM_005751.5	NP_005742.4:p.(Asn2452ArgfsTer3)	NC_000007.13:g.91708802_91708805del	(Likely) benign	1 lab	e8004efd8d
18:25570133 CDH2 CCTT>C	18	25570133	25570142	CCTT	C	CDH2	c.1523_1525del	NM_001792.5	NP_001783.2:p.(Glu508del)	NC_000018.9:g.25570140_25570142del	VUS	1 lab	e80274746d
10:67680378 CTNNA3 G>T	10	67680378	67680378	G	T	CTNNA3	c.2401-3C>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.67680378G>T	(Likely) benign	1 lab	e806131144
16:69724959 NFAT5 ACAG>A	16	69724959	69724965	ACAG	A	NFAT5	c.1613_1615del	NM_138714.4	NP_619728.2:p.(Ala538del)	NC_000016.9:g.69724963_69724965del	VUS	1 lab	e806fa705c
2:21230600 APOB G>C	2	21230600	21230600	G	C	APOB	c.9140C>G	NM_000384.3	NP_000375.3:p.(Thr3047Arg)	NC_000002.11:g.21230600G>C	(Likely) benign	1 lab	e80d397bfc
6:110953233 CDK19 C>Alt too long to show for this DUP	6	110953233	111073363	C	Alt too long to show for this DUP	CDK19	c.129-5959_645dup	NM_015076.5	NP_055891.1:p.?	NC_000006.11:g.110953234_111073363dup	VUS	1 lab	e80f13c53e
1:40313751 TRIT1 T>C	1	40313751	40313751	T	C	TRIT1	c.722A>G	NM_017646.6	NP_060116.2:p.(Asp241Gly)	NC_000001.10:g.40313751T>C	(Likely) pathogenic	1 lab	e81166fc59
2:44051371 ABCG5 C>T	2	44051371	44051371	C	T	ABCG5	c.1105G>A	NM_022436.3	NP_071881.1:p.(Gly369Ser)	NC_000002.11:g.44051371C>T	VUS	1 lab	e81898d489
2:179485502 TTN C>T	2	179485502	179485502	C	T	TTN	c.45835G>A	NM_001267550.2	NP_001254479.2:p.(Val15279Met)	NC_000002.11:g.179485502C>T	VUS	1 lab	e82096d645
2:179426005 TTN G>A	2	179426005	179426005	G	A	TTN	c.84854C>T	NM_001267550.2	NP_001254479.2:p.(Thr28285Ile)	NC_000002.11:g.179426005G>A	VUS	1 lab	e821bc993a
19:39055912 RYR1 TGCG>T	19	39055912	39055921	TGCG	T	RYR1	c.12945_12947del	NM_000540.3	NP_000531.2:p.(Arg4316del)	NC_000019.9:g.39055919_39055921del	VUS	1 lab	e82560c4f2
1:156109613 LMNA T>A	1	156109613	156109613	T	A	LMNA	c.1708T>A	NM_001257374.3	NP_001244303.1:p.(Leu570Met)	NC_000001.10:g.156109613T>A	VUS	1 lab	e82834a040
7:81599273 CACNA2D1 T>C	7	81599273	81599273	T	C	CACNA2D1	c.2268A>G	NM_001366867.1	NP_001353796.1:p.(Pro756=)	NC_000007.13:g.81599273T>C	(Likely) benign	1 lab	e82d321382
18:47095675 LIPG G>T	18	47095675	47095675	G	T	LIPG	c.460-132G>T	NM_006033.4	NP_006024.1:p.?	NC_000018.9:g.47095675G>T	(Likely) benign	1 lab	e83075c835
16:2129442 TSC2 T>A	16	2129442	2129442	T	A	TSC2	c.3284+13T>A	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2129442T>A	(Likely) benign	1 lab	e830c536cb
15:31202961 FAN1 G>A	15	31202961	31202961	G	A	FAN1	c.1520G>A	NM_014967.5	NP_055782.3:p.(Arg507His)	NC_000015.9:g.31202961G>A	(Likely) benign	1 lab	e83749ae12
3:38991569 SCN11A C>CCCCG	3	38991569	38991576	C	CCCCG	SCN11A	c.267+14_267+17dup	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38991573_38991576dup	(Likely) benign	1 lab	e83a72f5f8
6:32035603 TNXB C>T	6	32035603	32035603	C	T	TNXB	c.6379G>A	NM_019105.8	NP_061978.6:p.(Val2127Met)	NC_000006.11:g.32035603C>T	(Likely) benign	1 lab	e83dd1f448
2:137476527 MISSING Ref too long to show for this DEL>G	2	137476527	137530637	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.137476529_137530637del	VUS	1 lab	e8460265a0
3:49680132 BSN G>A	3	49680132	49680132	G	A	BSN	c.1065G>A	NM_003458.4	NP_003449.2:p.(Ala355=)	NC_000003.11:g.49680132G>A	(Likely) benign	1 lab	e848bd0ff3
22:46669602 MISSING T>Alt too long to show for this DUP	22	46669602	46768834	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.46669603_46768834dup	VUS	1 lab	e84bdce130
2:37365417 MISSING Ref too long to show for this DEL>A	2	37365417	37420045	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.37365418_37420045del	VUS	1 lab	e85025f461
1:155630245 YY1AP1 T>C	1	155630245	155630245	T	C	YY1AP1	c.1870A>G	NM_001198903.1	NP_001185832.1:p.(Met624Val)	NC_000001.10:g.155630245T>C	(Likely) benign	1 lab	e851edfd6f
16:1004496 LMF1 T>C	16	1004496	1004496	T	C	LMF1	c.37A>G	NM_001352019.2	NP_001338948.1:p.(Met13Val)	NC_000016.9:g.1004496T>C	VUS	1 lab	e852ee2b79
9:19009709 MISSING T>Alt too long to show for this DUP	9	19009709	19425209	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.19009711_19425209dup	VUS	1 lab	e860d619af
18:52985253 TCF4 A>Alt too long to show for this DUP	18	52985253	53108687	A	Alt too long to show for this DUP	TCF4	c.304+19564_549+32336dup	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52985255_53108687dup	(Likely) pathogenic	1 lab	e86144cc7c
9:137676555 COL5A1 A>C	9	137676555	137676555	A	C	COL5A1	c.2485-280A>C	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137676555A>C	(Likely) benign	1 lab	e868e698d3
17:7916472 GUCY2D G>A	17	7916472	7916472	G	A	GUCY2D	c.2165G>A	NM_000180.4	NP_000171.1:p.(Arg722Gln)	NC_000017.10:g.7916472G>A	VUS	1 lab	e86df41894
4:38798853 MISSING Ref too long to show for this DEL>C	4	38798853	38829395	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.38798854_38829395del	VUS	1 lab	e86ed313c4
1:22158177 HSPG2 C>T	1	22158177	22158177	C	T	HSPG2	c.11323G>A	NM_001291860.2	NP_001278789.1:p.(Gly3775Ser)	NC_000001.10:g.22158177C>T	VUS	1 lab	e870a8bf4f
3:52384020 DNAH1 C>T	3	52384020	52384020	C	T	DNAH1	c.2542C>T	NM_015512.5	NP_056327.4:p.(Arg848Cys)	NC_000003.11:g.52384020C>T	VUS	1 lab	e87cbcc19c
15:40327301 EIF2AK4 G>A	15	40327301	40327301	G	A	EIF2AK4	c.*16G>A	NM_001013703.4	NP_001013725.2:p.?	NC_000015.9:g.40327301G>A	(Likely) benign	1 lab	e87f9387af
2:21229003 APOB G>A	2	21229003	21229003	G	A	APOB	c.10737C>T	NM_000384.3	NP_000375.3:p.(Thr3579=)	NC_000002.11:g.21229003G>A	(Likely) benign	1 lab	e882fb64c2
2:179638738 TTN C>T	2	179638738	179638738	C	T	TTN	c.7157G>A	NM_133378.4	NP_596869.4:p.(Gly2386Asp)	NC_000002.11:g.179638738C>T	VUS	1 lab	e8844ae12d
12:64849714 TBK1 A>G	12	64849714	64849714	A	G	TBK1	c.64A>G	NM_013254.4	NP_037386.1:p.(Asn22Asp)	NC_000012.11:g.64849714A>G	VUS	1 lab	e8880be4c7
17:15659400 MISSING T>Alt too long to show for this DUP	17	15659400	15976497	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.15659401_15976497dup	VUS	1 lab	e88b7b7d45
X:153608391 EMD G>C	X	153608391	153608391	G	C	EMD	c.265+12G>C	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608391G>C	(Likely) benign	1 lab	e88fd36ce9
3:43607224 ANO10 C>CAAA	3	43607224	43607242	C	CAAA	ANO10	c.1219-8_1219-6dup	NM_001204831.3	NP_001191760.1:p.?	NC_000003.11:g.43607240_43607242dup	(Likely) benign	1 lab	e8956d2169
3:182788788 MCCC1 Ref too long to show for this DEL>T	3	182788788	182826317	Ref too long to show for this DEL	T	MCCC1				NC_000003.11:g.182788790_182826317del	VUS	1 lab	e89d583eda
2:58388642 FANCL A>G	2	58388642	58388642	A	G	FANCL	c.1035+15T>C	NM_001114636.1	NP_001108108.1:p.?	NC_000002.11:g.58388642A>G	(Likely) benign	1 lab	e89f3fb50e
8:144296991 GPIHBP1 C>T	8	144296991	144296991	C	T	GPIHBP1	c.285C>T	NM_178172.6	NP_835466.2:p.(His95=)	NC_000008.10:g.144296991C>T	(Likely) benign	1 lab	e8a4669ac8
10:7423916 SFMBT2 G>A	10	7423916	7423916	G	A	SFMBT2	c.-51-5C>T	NM_001029880.3	NP_001025051.1:p.?	NC_000010.10:g.7423916G>A	(Likely) benign	1 lab	e8a547e7d0
5:131915542 RAD50 A>G	5	131915542	131915542	A	G	RAD50	c.552-12A>G	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131915542A>G	(Likely) benign	1 lab	e8a9409c7a
1:236714292 HEATR1 T>TAAA	1	236714292	236714310	T	TAAA	HEATR1	c.6347-5_6347-3dup	NM_018072.6	NP_060542.4:p.?	NC_000001.10:g.236714308_236714310dup	(Likely) benign	1 lab	e8ab0bdff6
11:88241800 GRM5 A>G	11	88241800	88241800	A	G	GRM5	c.3503T>C	NM_000842.5	NP_000833.1:p.(Leu1168Pro)	NC_000011.9:g.88241800A>G	VUS	1 lab	e8ab3a3a59
4:100513151 MTTP T>G	4	100513151	100513151	T	G	MTTP	c.758+204T>G	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100513151T>G	(Likely) benign	1 lab	e8affe1d1b
1:55523127 PCSK9 G>T	1	55523127	55523127	G	T	PCSK9	c.1120G>T	NM_174936.4	NP_777596.2:p.(Asp374Tyr)	NC_000001.10:g.55523127G>T	(Likely) pathogenic	1 lab	e8c5327438
11:121421343 SORL1 C>T	11	121421343	121421343	C	T	SORL1	c.2230C>T	NM_003105.6	NP_003096.2:p.(Arg744Ter)	NC_000011.9:g.121421343C>T	(Likely) pathogenic	1 lab	e8ca223617
20:5294613 PROKR2 G>A	20	5294613	5294613	G	A	PROKR2	c.403C>T	NM_144773.4	NP_658986.1:p.(Arg135Cys)	NC_000020.10:g.5294613G>A	VUS	1 lab	e8cc1d9a15
4:122784445 BBS7 T>C	4	122784445	122784445	T	C	BBS7	c.103-11A>G	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122784445T>C	(Likely) benign	1 lab	e8cce0e37c
11:121440962 SORL1 G>A	11	121440962	121440962	G	A	SORL1	c.3320G>A	NM_003105.6	NP_003096.2:p.(Ser1107Asn)	NC_000011.9:g.121440962G>A	(Likely) benign	1 lab	e8cd5d0608
8:10464465 RP1L1 G>A	8	10464465	10464465	G	A	RP1L1	c.7143C>T	NM_178857.6	NP_849188.4:p.(Leu2381=)	NC_000008.10:g.10464465G>A	(Likely) benign	1 lab	e8cdee5648
1:46663034 POMGNT1 T>C	1	46663034	46663034	T	C	POMGNT1	c.-1A>G	NM_001290129.2	NP_001277058.2:p.?	NC_000001.10:g.46663034T>C	(Likely) benign	1 lab	e8d2dc8ca8
2:179599355 TTN G>C	2	179599355	179599355	G	C	TTN	c.11486-22C>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179599355G>C	(Likely) benign	1 lab	e8da7ecba5
1:146466273 NBPF14 G>T	1	146466273	146466273	G	T	NBPF14	c.*152G>T	NM_015383.2	NP_056198.2:p.?	NC_000001.10:g.146466273G>T	(Likely) benign	1 lab	e8dad2d85a
11:49504045 MISSING G>Alt too long to show for this DUP	11	49504045	50130731	G	Alt too long to show for this DUP	MISSING				NC_000011.9:g.49504046_50130731dup	VUS	1 lab	e8db02d9f5
X:38145646 RPGR T>C	X	38145646	38145646	T	C	RPGR	c.2606A>G	NM_001034853.2	NP_001030025.1:p.(Glu869Gly)	NC_000023.10:g.38145646T>C	(Likely) benign	1 lab	e8dbda44da
20:34057722 CEP250 G>A	20	34057722	34057722	G	A	CEP250	c.859G>A	NM_007186.6	NP_009117.2:p.(Glu287Lys)	NC_000020.10:g.34057722G>A	(Likely) benign	1 lab	e90650dd86
1:78401656 NEXN TAGA>T	1	78401656	78401665	TAGA	T	NEXN	c.1407_1409del	NM_144573.4	NP_653174.3:p.(Glu470del)	NC_000001.10:g.78401663_78401665del	VUS	1 lab	e8e277db5c
5:37153827 CPLANE1 A>C	5	37153827	37153827	A	C	CPLANE1	c.8211+15T>G	NM_023073.4	NP_075561.3:p.?	NC_000005.9:g.37153827A>C	(Likely) benign	1 lab	e8e373497c
7:157811100 MISSING Ref too long to show for this DEL>A	7	157811100	158385585	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.157811102_158385585del	VUS	1 lab	e8e5b6d0c6
12:21358788 SLCO1B1 T>C	12	21358788	21358788	T	C	SLCO1B1	c.1332-14T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21358788T>C	(Likely) benign	1 lab	e8e761adfd
2:21260601 APOB G>A	2	21260601	21260601	G	A	APOB	c.537+229C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21260601G>A	(Likely) benign	1 lab	e8e848dfdd
19:11223663 LDLR CTTTTT>C	19	11223663	11223685	CTTTTT	C	LDLR	c.1187-273_1187-269del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11223681_11223685del	(Likely) benign	1 lab	e8e88dcd23
1:3322140 PRDM16 G>A	1	3322140	3322140	G	A	PRDM16	c.1114G>A	NM_022114.4	NP_071397.3:p.(Gly372Arg)	NC_000001.10:g.3322140G>A	VUS	1 lab	e8eb9c60e7
6:80197492 LCA5 G>A	6	80197492	80197492	G	A	LCA5	c.1323C>T	NM_181714.4	NP_859065.2:p.(Tyr441=)	NC_000006.11:g.80197492G>A	(Likely) benign	1 lab	e8ebe6f21d
5:127671808 FBN2 AT>A	5	127671808	127671809	AT	A	FBN2	c.3599-4del	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127671809del	VUS	1 lab	e8f3b7a791
15:58855480 LIPC A>G	15	58855480	58855480	A	G	LIPC	c.1170-224A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58855480A>G	(Likely) benign	1 lab	e8f48866d3
3:49698182 BSN G>A	3	49698182	49698182	G	A	BSN	c.8904G>A	NM_003458.4	NP_003449.2:p.(Glu2968=)	NC_000003.11:g.49698182G>A	(Likely) benign	1 lab	e8fe6b193b
1:10381812 KIF1B G>A	1	10381812	10381812	G	A	KIF1B	c.2117G>A	NM_015074.3	NP_055889.2:p.(Arg706Gln)	NC_000001.10:g.10381812G>A	VUS	1 lab	e902734e36
15:72039380 THSD4 C>T	15	72039380	72039380	C	T	THSD4	c.2240C>T	NM_024817.2	NP_079093.2:p.(Ser747Leu)	NC_000015.9:g.72039380C>T	(Likely) benign	1 lab	e90aa69cbb
18:50891990 DCC Ref too long to show for this DEL>T	18	50891990	50912798	Ref too long to show for this DEL	T	DCC	c.2360-20422_2455+290del	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50891991_50912798del	VUS	1 lab	e90e7e6dfa
1:186043907 HMCN1 C>T	1	186043907	186043907	C	T	HMCN1	c.8174C>T	NM_031935.3	NP_114141.2:p.(Ala2725Val)	NC_000001.10:g.186043907C>T	(Likely) benign	1 lab	e9122ec8a6
2:189921925 COL5A2 A>C	2	189921925	189921925	A	C	COL5A2	c.2337+121T>G	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189921925A>C	(Likely) benign	1 lab	e91468a554
2:15519974 NBAS T>C	2	15519974	15519974	T	C	NBAS	c.3361-19A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15519974T>C	(Likely) benign	1 lab	e91493185e
11:2604765 KCNQ1 C>T	11	2604765	2604765	C	T	KCNQ1	c.1022C>T	NM_000218.3	NP_000209.2:p.(Ala341Val)	NC_000011.9:g.2604765C>T	(Likely) pathogenic	1 lab	e9170daaef
11:118518753 PHLDB1 C>T	11	118518753	118518753	C	T	PHLDB1	c.3615C>T	NM_001144758.3	NP_001138230.1:p.(Val1205=)	NC_000011.9:g.118518753C>T	(Likely) benign	1 lab	e918d8d3fb
10:89623719 PTEN G>T	10	89623719	89623719	G	T	PTEN	c.-508G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623719G>T	(Likely) benign	1 lab	e919b9790f
9:21333719 KLHL9 C>T	9	21333719	21333719	C	T	KLHL9	c.1140G>A	NM_018847.4	NP_061335.1:p.(Met380Ile)	NC_000009.11:g.21333719C>T	(Likely) benign	1 lab	e91fe98c9e
19:55667587 TNNI3 C>T	19	55667587	55667587	C	T	TNNI3	c.264G>A	NM_000363.5	NP_000354.4:p.(Leu88=)	NC_000019.9:g.55667587C>T	(Likely) benign	1 lab	e9216b1522
16:21931246 MISSING T>Alt too long to show for this DUP	16	21931246	22431357	T	Alt too long to show for this DUP	MISSING				NC_000016.9:g.21931247_22431357dup	VUS	1 lab	e9238f9cf0
20:5294866 PROKR2 G>A	20	5294866	5294866	G	A	PROKR2	c.150C>T	NM_144773.4	NP_658986.1:p.(Phe50=)	NC_000020.10:g.5294866G>A	(Likely) benign	1 lab	e924a283c7
2:234237136 SAG A>G	2	234237136	234237136	A	G	SAG	c.525A>G	NM_000541.5	NP_000532.2:p.(Arg175=)	NC_000002.11:g.234237136A>G	(Likely) benign	1 lab	e92511596e
2:179635349 TTN C>A	2	179635349	179635349	C	A	TTN	c.8170G>T	NM_001267550.2	NP_001254479.2:p.(Ala2724Ser)	NC_000002.11:g.179635349C>A	VUS	1 lab	e928086aa8
2:21232837 APOB C>A	2	21232837	21232837	C	A	APOB	c.6903G>T	NM_000384.3	NP_000375.3:p.(Leu2301Phe)	NC_000002.11:g.21232837C>A	VUS	1 lab	e92a46b2c0
13:32907242 BRCA2 C>A	13	32907242	32907242	C	A	BRCA2	c.1627C>A	NM_000059.4	NP_000050.3:p.(His543Asn)	NC_000013.10:g.32907242C>A	(Likely) benign	1 lab	e92c293c8d
2:105984154 FHL2 G>T	2	105984154	105984154	G	T	FHL2	c.374C>A	NM_201555.2	NP_963849.1:p.(Thr125Asn)	NC_000002.11:g.105984154G>T	VUS	1 lab	e92dfbe8f0
16:88798330 PIEZO1 A>AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGG	16	88798330	88798341	A	AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGG	PIEZO1	c.2992-13_2992-12insCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGAGGGCGGGG	(Likely) benign	1 lab	e93551fde8
11:47364846 MYBPC3 C>T	11	47364846	47364846	C	T	MYBPC3	c.1224-33G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364846C>T	VUS	1 lab	e936683547
9:133329682 ASS1 T>G	9	133329682	133329682	T	G	ASS1	c.106-10T>G	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133329682T>G	(Likely) benign	1 lab	e938fb7d90
3:184039089 EIF4G1 A>G	3	184039089	184039089	A	G	EIF4G1	c.717A>G	NM_182917.4	NP_886553.3:p.(Ala239=)	NC_000003.11:g.184039089A>G	(Likely) benign	1 lab	e93af9397e
5:127668694 FBN2 A>T	5	127668694	127668694	A	T	FBN2	c.4132T>A	NM_001999.4	NP_001990.2:p.(Cys1378Ser)	NC_000005.9:g.127668694A>T	(Likely) pathogenic	1 lab	e93d7c9993
12:995206 WNK1 A>G	12	995206	995206	A	G	WNK1	c.6016A>G	NM_001184985.2	NP_001171914.1:p.(Lys2006Glu)	NC_000012.11:g.995206A>G	VUS	1 lab	e941769367
8:52733120 PCMTD1 C>T	8	52733120	52733120	C	T	PCMTD1	c.865G>A	NM_052937.4	NP_443169.2:p.(Val289Ile)	NC_000008.10:g.52733120C>T	(Likely) benign	1 lab	e942178846
13:96377478 DNAJC3 A>G	13	96377478	96377478	A	G	DNAJC3	c.365A>G	NM_006260.5	NP_006251.1:p.(Asp122Gly)	NC_000013.10:g.96377478A>G	VUS	1 lab	e943e1d53f
7:77824329 MAGI2 G>T	7	77824329	77824329	G	T	MAGI2	c.2131C>A	NM_012301.4	NP_036433.2:p.(Pro711Thr)	NC_000007.13:g.77824329G>T	VUS	1 lab	e94ab2452e
X:41437631 CASK G>A	X	41437631	41437631	G	A	CASK	c.1465C>T	NM_001367721.1	NP_001354650.1:p.(Arg489Trp)	NC_000023.10:g.41437631G>A	(Likely) pathogenic	1 lab	e9500bcbe2
11:85366757 TMEM126A G>A	11	85366757	85366757	G	A	TMEM126A	c.395+5G>A	NM_032273.4	NP_115649.1:p.?	NC_000011.9:g.85366757G>A	(Likely) benign	1 lab	e9501ab177
8:38959363 ADAM9 A>AT	8	38959363	38959373	A	AT	ADAM9	c.2299-9dup	NM_003816.3	NP_003807.1:p.?	NC_000008.10:g.38959373dup	(Likely) benign	1 lab	e955b64205
11:47361460 MYBPC3 G>A	11	47361460	47361460	G	A	MYBPC3	c.1928-119C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361460G>A	(Likely) benign	1 lab	e956318f60
13:21746643 SKA3 C>CCG	13	21746643	21746645	C	CCG	SKA3	c.166-1_166insCG	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21746644_21746645insGC	(Likely) benign	1 lab	e96389d96a
X:70444184 GJB1 G>T	X	70444184	70444184	G	T	GJB1	c.627G>T	NM_000166.6	NP_000157.1:p.(Val209=)	NC_000023.10:g.70444184G>T	(Likely) benign	1 lab	e966134d58
10:85956268 CDHR1 C>T	10	85956268	85956268	C	T	CDHR1	c.159C>T	NM_033100.4	NP_149091.1:p.(His53=)	NC_000010.10:g.85956268C>T	(Likely) benign	1 lab	e966765e33
11:121420809 SORL1 A>G	11	121420809	121420809	A	G	SORL1	c.2180+12A>G	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121420809A>G	(Likely) benign	1 lab	e96ace059a
1:35250892 GJB3 T>G	1	35250892	35250892	T	G	GJB3	c.529T>G	NM_024009.3	NP_076872.1:p.(Tyr177Asp)	NC_000001.10:g.35250892T>G	(Likely) benign	1 lab	e96c18919e
6:102246637 GRIK2 Ref too long to show for this DEL>G	6	102246637	102252797	Ref too long to show for this DEL	G	GRIK2	c.952-885_1203+2484del	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102246638_102252797del	VUS	1 lab	e96c49950e
19:11224013 LDLR C>T	19	11224013	11224013	C	T	LDLR	c.1246C>T	NM_000527.5	NP_000518.1:p.(Arg416Trp)	NC_000019.9:g.11224013C>T	(Likely) pathogenic	1 lab	e97589f748
2:179570029 TTN G>T	2	179570029	179570029	G	T	TTN	c.29476C>A	NM_001267550.2	NP_001254479.2:p.(Leu9826Ile)	NC_000002.11:g.179570029G>T	VUS	1 lab	e97705b1cb
12:2760892 CACNA1C G>C	12	2760892	2760892	G	C	CACNA1C	c.4176G>C	NM_199460.4	NP_955630.3:p.(Glu1392Asp)	NC_000012.11:g.2760892G>C	VUS	1 lab	e9789b1531
8:59405059 CYP7A1 A>G	8	59405059	59405059	A	G	CYP7A1	c.1068T>C	NM_000780.4	NP_000771.2:p.(Leu356=)	NC_000008.10:g.59405059A>G	(Likely) benign	1 lab	e97926a86b
X:70444104 GJB1 C>A	X	70444104	70444104	C	A	GJB1	c.547C>A	NM_000166.6	NP_000157.1:p.(Arg183Ser)	NC_000023.10:g.70444104C>A	(Likely) pathogenic	1 lab	e97c106213
1:55505804 PCSK9 T>A	1	55505804	55505804	T	A	PCSK9	c.207+87T>A	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55505804T>A	(Likely) benign	1 lab	e97c18a168
4:110773141 LRIT3 G>A	4	110773141	110773141	G	A	LRIT3	c.589+9G>A	NM_198506.5	NP_940908.3:p.?	NC_000004.11:g.110773141G>A	(Likely) benign	1 lab	e97d60a69f
2:225371704 CUL3 G>C	2	225371704	225371704	G	C	CUL3	c.900C>G	NM_003590.5	NP_003581.1:p.(Tyr300Ter)	NC_000002.11:g.225371704G>C	(Likely) pathogenic	1 lab	e97e53a676
17:6330187 AIPL1 C>T	17	6330187	6330187	C	T	AIPL1	c.642+14G>A	NM_014336.5	NP_055151.3:p.?	NC_000017.10:g.6330187C>T	(Likely) benign	1 lab	e981123289
17:263343 LIAT1 C>A	17	263343	263343	C	A	LIAT1	c.709C>A	NM_001013672.5	NP_001013694.4:p.(Pro237Thr)	NC_000017.10:g.263343C>A	(Likely) benign	1 lab	e983693da2
11:2799279 KCNQ1 C>G	11	2799279	2799279	C	G	KCNQ1	c.1794+12C>G	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2799279C>G	(Likely) benign	1 lab	e98661a051
14:32034248 NUBPL C>T	14	32034248	32034248	C	T	NUBPL	c.285C>T	NM_025152.3	NP_079428.2:p.(Asn95=)	NC_000014.8:g.32034248C>T	(Likely) benign	1 lab	e986b86078
11:68191177 LRP5 A>G	11	68191177	68191177	A	G	LRP5	c.3236+12A>G	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68191177A>G	(Likely) benign	1 lab	e986ccaff9
2:241702130 KIF1A C>T	2	241702130	241702130	C	T	KIF1A	c.2191+6G>A	NM_001379631.1	NP_001366560.1:p.?	NC_000002.11:g.241702130C>T	(Likely) benign	1 lab	e9871a6ed5
X:50653776 MISSING Ref too long to show for this DEL>C	X	50653776	50674794	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.50653777_50674794del	(Likely) pathogenic	1 lab	e988421ca8
16:57937772 CNGB1 G>A	16	57937772	57937772	G	A	CNGB1	c.2748C>T	NM_001297.5	NP_001288.3:p.(Arg916=)	NC_000016.9:g.57937772G>A	(Likely) benign	1 lab	e988b417e6
4:100512849 MTTP T>C	4	100512849	100512849	T	C	MTTP	c.660T>C	NM_000253.4	NP_000244.2:p.(Tyr220=)	NC_000004.11:g.100512849T>C	(Likely) benign	1 lab	e98abd18f8
16:46652286 SHCBP1 T>TA	16	46652286	46652297	T	TA	SHCBP1	c.104-3dup	NM_024745.5	NP_079021.4:p.?	NC_000016.9:g.46652297dup	(Likely) benign	1 lab	e98c1c1a33
3:195452504 MUC20 GCC>G	3	195452504	195452506	GCC	G	MUC20	c.1031_1032del	NM_001282506.2	NP_001269435.1:p.(Ala344ValfsTer61)	NC_000003.11:g.195452505_195452506del	(Likely) benign	1 lab	e98d46109b
9:107547273 ABCA1 C>T	9	107547273	107547273	C	T	ABCA1	c.6645+404G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547273C>T	(Likely) benign	1 lab	e991d5deae
11:47353723 MYBPC3 C>T	11	47353723	47353723	C	T	MYBPC3	c.3714G>A	NM_000256.3	NP_000247.2:p.(Leu1238=)	NC_000011.9:g.47353723C>T	(Likely) benign	1 lab	e99668a972
5:153179493 MISSING A>Alt too long to show for this DUP	5	153179493	153865869	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.153179495_153865869dup	VUS	1 lab	e99bb80832
8:62555482 ASPH GA>G	8	62555482	62555492	GA	G	ASPH	c.758-4del	NM_004318.4	NP_004309.2:p.?	NC_000008.10:g.62555492del	(Likely) benign	1 lab	e99d607a92
19:11234000 LDLR T>C	19	11234000	11234000	T	C	LDLR	c.2291T>C	NM_000527.5	NP_000518.1:p.(Ile764Thr)	NC_000019.9:g.11234000T>C	VUS	1 lab	e99dbf463c
2:1437295 TPO C>T	2	1437295	1437295	C	T	TPO	c.265C>T	NM_000547.6	NP_000538.3:p.(Arg89Ter)	NC_000002.11:g.1437295C>T	(Likely) pathogenic	1 lab	e99f2804b3
22:25015602 MISSING G>Alt too long to show for this DUP	22	25015602	25301354	G	Alt too long to show for this DUP	MISSING				NC_000022.10:g.25015604_25301354dup	VUS	1 lab	e9a4df336b
X:100652934 RPL36A-HNRNPH2 T>C	X	100652934	100652934	T	C	RPL36A-HNRNPH2	c.300+2489T>C	NM_001199973.2	NP_001186902.2:p.?	NC_000023.10:g.100652934T>C	(Likely) benign	1 lab	e9a6f80754
14:21771685 RPGRIP1 G>A	14	21771685	21771685	G	A	RPGRIP1	c.783G>A	NM_020366.4	NP_065099.3:p.(Gln261=)	NC_000014.8:g.21771685G>A	(Likely) benign	1 lab	e9a9c9836e
10:27688101 PTCHD3 G>A	10	27688101	27688101	G	A	PTCHD3	c.1426C>T	NM_001034842.4	NP_001030014.2:p.(Arg476Ter)	NC_000010.10:g.27688101G>A	(Likely) benign	1 lab	e9af3a1bd8
2:21233719 APOB C>G	2	21233719	21233719	C	G	APOB	c.6021G>C	NM_000384.3	NP_000375.3:p.(Val2007=)	NC_000002.11:g.21233719C>G	(Likely) benign	1 lab	e9b883e2e2
2:72362339 CYP26B1 G>C	2	72362339	72362339	G	C	CYP26B1	c.639C>G	NM_019885.4	NP_063938.1:p.(Val213=)	NC_000002.11:g.72362339G>C	(Likely) benign	1 lab	e9bb58de3c
2:21250708 APOB G>A	2	21250708	21250708	G	A	APOB	c.2059C>T	NM_000384.3	NP_000375.3:p.(Leu687Phe)	NC_000002.11:g.21250708G>A	(Likely) benign	1 lab	e9bbb023f9
9:35714893 TLN1 C>T	9	35714893	35714893	C	T	TLN1	c.2755-20G>A	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35714893C>T	(Likely) benign	1 lab	e9bd6dbc19
15:22770421 MISSING Ref too long to show for this DEL>A	15	22770421	23291159	Ref too long to show for this DEL	A	MISSING				NC_000015.9:g.22770422_23291159del	(Likely) pathogenic	1 lab	e9c258c9e0
5:63429187 MISSING T>Alt too long to show for this DUP	5	63429187	64172320	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.63429189_64172320dup	VUS	1 lab	e9caf31dbb
6:7583174 DSP C>G	6	7583174	7583174	C	G	DSP	c.5679C>G	NM_004415.4	NP_004406.2:p.(Asn1893Lys)	NC_000006.11:g.7583174C>G	VUS	1 lab	e9d31eb079
2:21235683 APOB G>A	2	21235683	21235683	G	A	APOB	c.4217-160C>T	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21235683G>A	(Likely) benign	1 lab	ea0852c679
2:158274685 CYTIP Ref too long to show for this DEL>G	2	158274685	158290309	Ref too long to show for this DEL	G	CYTIP	c.279+573_613+349del	NM_004288.5	NP_004279.3:p.?	NC_000002.11:g.158274686_158290309del	VUS	1 lab	e9e6736a43
3:182769957 MCCC1 A>T	3	182769957	182769957	A	T	MCCC1	c.945T>A	NM_020166.5	NP_064551.3:p.(Tyr315Ter)	NC_000003.11:g.182769957A>T	(Likely) pathogenic	1 lab	e9e6b93dd3
1:46763965 MISSING G>Alt too long to show for this DUP	1	46763965	46781720	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.46763966_46781720dup	(Likely) pathogenic	1 lab	e9eaedd9b8
15:78416079 CIB2 G>A	15	78416079	78416079	G	A	CIB2	c.54C>T	NM_001301224.2	NP_001288153.1:p.(Asp18=)	NC_000015.9:g.78416079G>A	(Likely) benign	1 lab	e9ee3240fb
2:238253492 COL6A3 G>C	2	238253492	238253492	G	C	COL6A3	c.7175-6C>G	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238253492G>C	VUS	1 lab	e9ee548ee3
9:101980780 ALG2 G>A	9	101980780	101980780	G	A	ALG2	c.687C>T	NM_033087.4	NP_149078.1:p.(Leu229=)	NC_000009.11:g.101980780G>A	(Likely) benign	1 lab	e9efdf54d8
1:63063616 ANGPTL3 C>T	1	63063616	63063616	C	T	ANGPTL3	c.379C>T	NM_014495.4	NP_055310.1:p.(Leu127Phe)	NC_000001.10:g.63063616C>T	(Likely) benign	1 lab	e9f5bd3c91
6:29911056 HLA-A A>G	6	29911056	29911056	A	G	HLA-A	c.355A>G	NM_002116.8	NP_002107.3:p.(Ile119Val)	NC_000006.11:g.29911056A>G	(Likely) benign	1 lab	e9f6310e74
16:16256897 ABCC6 G>A	16	16256897	16256897	G	A	ABCC6	c.3459C>T	NM_001171.6	NP_001162.5:p.(Arg1153=)	NC_000016.9:g.16256897G>A	(Likely) benign	1 lab	e9fc028c57
6:56497635 DST G>A	6	56497635	56497635	G	A	DST	c.3805+17C>T	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56497635G>A	(Likely) benign	1 lab	e9fcdbe903
11:108143663 ATM A>G	11	108143663	108143663	A	G	ATM	c.3284+84A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143663A>G	(Likely) benign	1 lab	e9ffe59d26
15:34529770 SLC12A6 CAT>C	15	34529770	34529772	CAT	C	SLC12A6	c.2776-21_2776-20del	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34529771_34529772del	(Likely) benign	1 lab	ea026edebf
6:56334947 DST A>G	6	56334947	56334947	A	G	DST	c.16098T>C	NM_001144769.5	NP_001138241.1:p.(Asp5366=)	NC_000006.11:g.56334947A>G	(Likely) benign	1 lab	ea044fec5d
22:21522852 MISSING Ref too long to show for this DEL>T	22	21522852	23661118	Ref too long to show for this DEL	T	MISSING				NC_000022.10:g.21522853_23661118del	(Likely) pathogenic	1 lab	ea099db7a6
2:179440760 TTN G>A	2	179440760	179440760	G	A	TTN	c.70099C>T	NM_001267550.2	NP_001254479.2:p.(Pro23367Ser)	NC_000002.11:g.179440760G>A	VUS	1 lab	ea0d9fd0de
11:129802069 PRDM10 C>T	11	129802069	129802069	C	T	PRDM10	c.1215G>A	NM_020228.3	NP_064613.2:p.(Pro405=)	NC_000011.9:g.129802069C>T	(Likely) benign	1 lab	ea12c5ba55
12:20696410 PDE3A Ref too long to show for this DEL>A	12	20696410	20730756	Ref too long to show for this DEL	A	PDE3A	c.961-13182_1011+21112del	NM_000921.5	NP_000912.3:p.?	NC_000012.11:g.20696412_20730756del	VUS	1 lab	ea1490025a
7:103191626 RELN G>A	7	103191626	103191626	G	A	RELN	c.6190C>T	NM_005045.4	NP_005036.2:p.(His2064Tyr)	NC_000007.13:g.103191626G>A	VUS	1 lab	ea191449a9
4:121738098 PRDM5 AAG>A	4	121738098	121738103	AAG	A	PRDM5	c.651-21_651-20del	NM_018699.4	NP_061169.2:p.?	NC_000004.11:g.121738102_121738103del	(Likely) benign	1 lab	ea1b5e4e39
2:113993126 PAX8 G>C	2	113993126	113993126	G	C	PAX8	c.932C>G	NM_003466.4	NP_003457.1:p.(Thr311Ser)	NC_000002.11:g.113993126G>C	VUS	1 lab	ea1d0639c7
19:11216242 LDLR C>CGACTGCAAGGACAAATCT	19	11216242	11216263	C	CGACTGCAAGGACAAATCT	LDLR	c.664_681dup	NM_000527.5	NP_000518.1:p.(Cys222_Asp227dup)	NC_000019.9:g.11216246_11216263dup	(Likely) pathogenic	1 lab	ea21943752
14:23857138 MYH6 C>T	14	23857138	23857138	C	T	MYH6	c.4360-6G>A	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23857138C>T	VUS	1 lab	ea26d43a86
5:65224168 ERBIN C>Alt too long to show for this DUP	5	65224168	65329125	C	Alt too long to show for this DUP	ERBIN	c.-58+1535_1206+4954dup	NM_001253697.2	NP_001240626.1:p.?	NC_000005.9:g.65224169_65329125dup	VUS	1 lab	ea27aab491
5:172659642 NKX2-5 G>A	5	172659642	172659642	G	A	NKX2-5	c.905C>T	NM_004387.4	NP_004378.1:p.(Ala302Val)	NC_000005.9:g.172659642G>A	VUS	1 lab	ea30e36370
15:28465737 HERC2 T>C	15	28465737	28465737	T	C	HERC2	c.5706A>G	NM_004667.6	NP_004658.3:p.(Gly1902=)	NC_000015.9:g.28465737T>C	(Likely) benign	1 lab	ea31b005a4
7:57068725 MISSING Ref too long to show for this DEL>G	7	57068725	58019983	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.57068727_58019983del	VUS	1 lab	ea3285b3d3
11:47358393 MYBPC3 A>T	11	47358393	47358393	A	T	MYBPC3	c.2602+549T>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358393A>T	(Likely) benign	1 lab	ea349f8795
11:108121410 ATM CTT>C	11	108121410	108121425	CTT	C	ATM	c.1236-4_1236-3del	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121424_108121425del	(Likely) benign	1 lab	ea35596c13
2:21235078 APOB G>T	2	21235078	21235078	G	T	APOB	c.4662C>A	NM_000384.3	NP_000375.3:p.(Ile1554=)	NC_000002.11:g.21235078G>T	(Likely) benign	1 lab	ea38e479e1
6:10809188 MAK C>T	6	10809188	10809188	C	T	MAK	c.359-13G>A	NM_001242957.3	NP_001229886.1:p.?	NC_000006.11:g.10809188C>T	(Likely) benign	1 lab	ea3951c401
X:13763204 MISSING G>Alt too long to show for this DUP	X	13763204	14148439	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.13763207_14148439dup	VUS	1 lab	ea3fcdbe97
22:17317342 MISSING T>Alt too long to show for this DUP	22	17317342	17692473	T	Alt too long to show for this DUP	MISSING				NC_000022.10:g.17317343_17692473dup	(Likely) pathogenic	1 lab	ea42924b6e
8:59405068 CYP7A1 C>T	8	59405068	59405068	C	T	CYP7A1	c.1059G>A	NM_000780.4	NP_000771.2:p.(Ser353=)	NC_000008.10:g.59405068C>T	(Likely) benign	1 lab	ea46d8e21b
X:130409044 IGSF1 C>A	X	130409044	130409044	C	A	IGSF1	c.3416G>T	NM_001170961.2	NP_001164432.1:p.(Cys1139Phe)	NC_000023.10:g.130409044C>A	VUS	1 lab	ea49f3034f
7:69880964 AUTS2 Ref too long to show for this DEL>A	7	69880964	69923504	Ref too long to show for this DEL	A	AUTS2	c.661-19772_690+22737del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69880966_69923504del	VUS	1 lab	ea4d5c53ff
9:2718911 KCNV2 C>A	9	2718911	2718911	C	A	KCNV2	c.1172C>A	NM_133497.4	NP_598004.1:p.(Ala391Glu)	NC_000009.11:g.2718911C>A	VUS	1 lab	ea4fbd4759
2:179419327 TTN T>C	2	179419327	179419327	T	C	TTN	c.88747A>G	NM_001267550.2	NP_001254479.2:p.(Met29583Val)	NC_000002.11:g.179419327T>C	VUS	1 lab	ea4fd1941e
1:23238975 EPHB2 A>G	1	23238975	23238975	A	G	EPHB2	c.2738A>G	NM_004442.7	NP_004433.2:p.(Tyr913Cys)	NC_000001.10:g.23238975A>G	VUS	1 lab	ea5b54174d
3:47125382 SETD2 T>C	3	47125382	47125382	T	C	SETD2	c.5888A>G	NM_014159.7	NP_054878.5:p.(Lys1963Arg)	NC_000003.11:g.47125382T>C	VUS	1 lab	ea5c098a83
15:48720421 FBN1 T>C	15	48720421	48720421	T	C	FBN1	c.6997+122A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48720421T>C	(Likely) benign	1 lab	ea6891ee67
2:167145142 SCN1A-AS1 A>G	2	167145142	167145142	A	G	SCN1A-AS1	n.1030-5933A>G	NR_110260.1		NC_000002.11:g.167145142A>G	(Likely) benign	1 lab	ea68f25cec
6:16144068 MYLIP G>A	6	16144068	16144068	G	A	MYLIP	c.801G>A	NM_013262.4	NP_037394.2:p.(Ala267=)	NC_000006.11:g.16144068G>A	(Likely) benign	1 lab	ea72ccec30
18:29042152 MISSING Ref too long to show for this DEL>C	18	29042152	29138697	Ref too long to show for this DEL	C	MISSING				NC_000018.9:g.29042154_29138697del	VUS	1 lab	ea78ded1d5
15:62243197 VPS13C T>C	15	62243197	62243197	T	C	VPS13C	c.4483A>G	NM_001018088.3	NP_001018098.1:p.(Ile1495Val)	NC_000015.9:g.62243197T>C	(Likely) benign	1 lab	ea78e38cf2
19:11211018 LDLR T>G	19	11211018	11211018	T	G	LDLR	c.187T>G	NM_000527.5	NP_000518.1:p.(Cys63Gly)	NC_000019.9:g.11211018T>G	(Likely) pathogenic	1 lab	ea7940d603
2:179611711 TTN C>A	2	179611711	179611711	C	A	TTN	c.15416G>T	NM_133379.5	NP_596870.2:p.(Arg5139Met)	NC_000002.11:g.179611711C>A	(Likely) benign	1 lab	ea7df33923
13:20716812 GJA3 A>T	13	20716812	20716812	A	T	GJA3	c.616T>A	NM_021954.4	NP_068773.2:p.(Phe206Ile)	NC_000013.10:g.20716812A>T	VUS	1 lab	ea8013667f
2:27703028 IFT172 T>C	2	27703028	27703028	T	C	IFT172	c.786-12A>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27703028T>C	(Likely) benign	1 lab	ea8b36a7e3
10:13320372 PHYH C>G	10	13320372	13320372	C	G	PHYH	c.664-18G>C	NM_001323080.2	NP_001310009.1:p.?	NC_000010.10:g.13320372C>G	(Likely) benign	1 lab	ea8c33d3bf
16:68835625 CDH1 C>T	16	68835625	68835625	C	T	CDH1	c.216C>T	NM_004360.5	NP_004351.1:p.(Asp72=)	NC_000016.9:g.68835625C>T	(Likely) benign	1 lab	ea8c4ce984
2:21225558 APOB A>C	2	21225558	21225558	A	C	APOB	c.12736T>G	NM_000384.3	NP_000375.3:p.(Phe4246Val)	NC_000002.11:g.21225558A>C	VUS	1 lab	ea8ef8dcd6
3:75788109 ZNF717 G>A	3	75788109	75788109	G	A	ZNF717	c.665C>T	NM_001128223.3	NP_001121695.1:p.(Ala222Val)	NC_000003.11:g.75788109G>A	(Likely) benign	1 lab	ea910304f5
3:195965653 PCYT1A G>A	3	195965653	195965653	G	A	PCYT1A	c.1010C>T	NM_005017.4	NP_005008.2:p.(Pro337Leu)	NC_000003.11:g.195965653G>A	VUS	1 lab	ea926cbfd8
4:166403465 CPE T>C	4	166403465	166403465	T	C	CPE	c.744T>C	NM_001873.4	NP_001864.1:p.(His248=)	NC_000004.11:g.166403465T>C	(Likely) benign	1 lab	ea934f1e51
6:64791905 EYS A>AAAATG	6	64791905	64791910	A	AAAATG	EYS	c.6425-15_6425-11dup	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.64791906_64791910dup	(Likely) benign	1 lab	ea95e9ce58
2:179438263 TTN-AS1 G>A	2	179438263	179438263	G	A	TTN-AS1	n.2044-9036G>A	NR_038272.1		NC_000002.11:g.179438263G>A	(Likely) benign	1 lab	ea9b4d2b15
5:73200246 ARHGEF28 T>C	5	73200246	73200246	T	C	ARHGEF28	c.4161+16T>C	NM_001080479.3	NP_001073948.2:p.?	NC_000005.9:g.73200246T>C	(Likely) benign	1 lab	eaa4690090
2:48010623 MSH6 C>T	2	48010623	48010623	C	T	MSH6	c.251C>T	NM_000179.3	NP_000170.1:p.(Ala84Val)	NC_000002.11:g.48010623C>T	VUS	1 lab	eaa4a25770
13:107145463 EFNB2 G>C	13	107145463	107145463	G	C	EFNB2	c.927=	NM_004093.4	NP_004084.1:p.(Gly309=)	NC_000013.10:g.107145463G>C	(Likely) benign	1 lab	eaa60aed44
12:48380153 COL2A1 C>CCAGG	12	48380153	48380158	C	CCAGG	COL2A1	c.1489_1492dup	NM_001844.5	NP_001835.3:p.(Gly498AlafsTer51)	NC_000012.11:g.48380155_48380158dup	(Likely) pathogenic	1 lab	eaa8a74b48
1:35250674 GJB3 G>A	1	35250674	35250674	G	A	GJB3	c.311G>A	NM_024009.3	NP_076872.1:p.(Arg104Gln)	NC_000001.10:g.35250674G>A	VUS	1 lab	eab0d3fe26
9:27548433 C9orf72 GAAA>G	9	27548433	27548459	GAAA	G	C9orf72	c.1260-16_1260-14del	NM_018325.5	NP_060795.1:p.?	NC_000009.11:g.27548457_27548459del	(Likely) benign	1 lab	eabdf5926b
3:195506341 MUC4 C>T	3	195506341	195506341	C	T	MUC4	c.12110G>A	NM_018406.7	NP_060876.5:p.(Ser4037Asn)	NC_000003.11:g.195506341C>T	(Likely) benign	1 lab	eabf8f0429
16:57007225 CETP C>T	16	57007225	57007225	C	T	CETP	c.751-18C>T	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007225C>T	(Likely) benign	1 lab	eabfcf7e16
8:144297269 GPIHBP1 C>T	8	144297269	144297269	C	T	GPIHBP1	c.431C>T	NM_178172.6	NP_835466.2:p.(Ser144Phe)	NC_000008.10:g.144297269C>T	(Likely) benign	1 lab	eac12096c9
2:179500887 TTN A>C	2	179500887	179500887	A	C	TTN	c.41411T>G	NM_001267550.2	NP_001254479.2:p.(Leu13804Ter)	NC_000002.11:g.179500887A>C	(Likely) pathogenic	1 lab	eac350acad
17:17696625 RAI1 G>A	17	17696625	17696625	G	A	RAI1	c.363G>A	NM_030665.4	NP_109590.3:p.(Trp121Ter)	NC_000017.10:g.17696625G>A	(Likely) pathogenic	1 lab	eac3c1515d
11:67222947 CABP4 G>A	11	67222947	67222947	G	A	CABP4	c.53G>A	NM_145200.5	NP_660201.1:p.(Arg18His)	NC_000011.9:g.67222947G>A	(Likely) benign	1 lab	eac581f737
21:45755646 CFAP410 C>T	21	45755646	45755646	C	T	CFAP410	c.138G>A	NM_001271441.2	NP_001258370.1:p.(Thr46=)	NC_000021.8:g.45755646C>T	(Likely) benign	1 lab	eac7d2ae93
4:114276910 ANK2 C>T	4	114276910	114276910	C	T	ANK2	c.7136C>T	NM_001148.6	NP_001139.3:p.(Thr2379Ile)	NC_000004.11:g.114276910C>T	VUS	1 lab	eacc961c23
10:69961569 MYPN AC>A	10	69961569	69961572	AC	A	MYPN	c.3494-14del	NM_032578.4	NP_115967.2:p.?	NC_000010.10:g.69961572del	(Likely) benign	1 lab	ead290de9a
8:10466919 RP1L1 G>A	8	10466919	10466919	G	A	RP1L1	c.4689C>T	NM_178857.6	NP_849188.4:p.(Asp1563=)	NC_000008.10:g.10466919G>A	(Likely) benign	1 lab	ead6f50053
12:21331546 SLCO1B1 A>G	12	21331546	21331546	A	G	SLCO1B1	c.518A>G	NM_006446.5	NP_006437.3:p.(Tyr173Cys)	NC_000012.11:g.21331546A>G	(Likely) benign	1 lab	eadb967bce
11:112104245 PTS T>C	11	112104245	112104245	T	C	PTS	c.405T>C	NM_000317.3	NP_000308.1:p.(Thr135=)	NC_000011.9:g.112104245T>C	(Likely) benign	1 lab	eadca54f10
6:32497910 HLA-DRB5 T>C	6	32497910	32497910	T	C	HLA-DRB5	c.92A>G	NM_002125.4	NP_002116.2:p.(Asp31Gly)	NC_000006.11:g.32497910T>C	(Likely) benign	1 lab	eadea97d76
1:25889124 LDLRAP1 C>A	1	25889124	25889124	C	A	LDLRAP1	c.460-11C>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25889124C>A	VUS	1 lab	ebdbda55ec
17:41244613 BRCA1 G>A	17	41244613	41244613	G	A	BRCA1	c.2935C>T	NM_007294.4	NP_009225.1:p.(Arg979Cys)	NC_000017.10:g.41244613G>A	(Likely) benign	1 lab	eadebd2fac
13:98987941 MISSING C>Alt too long to show for this DUP	13	98987941	99116138	C	Alt too long to show for this DUP	MISSING				NC_000013.10:g.98987944_99116138dup	VUS	1 lab	eae099f8b8
15:48902942 FBN1 G>C	15	48902942	48902942	G	C	FBN1	c.329C>G	NM_000138.5	NP_000129.3:p.(Ser110Cys)	NC_000015.9:g.48902942G>C	(Likely) pathogenic	1 lab	eae2241311
2:179516902 TTN T>G	2	179516902	179516902	T	G	TTN	c.31914A>C	NM_133378.4	NP_596869.4:p.(Pro10638=)	NC_000002.11:g.179516902T>G	(Likely) benign	1 lab	eae4fa6679
10:52834991 PRKG1 T>G	10	52834991	52834991	T	G	PRKG1	c.311+330T>G	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.52834991T>G	(Likely) benign	1 lab	eae5e1bbdd
3:132419309 NPHP3 G>T	3	132419309	132419309	G	T	NPHP3	c.1629-17C>A	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132419309G>T	(Likely) benign	1 lab	eae7b3a211
1:161277179 MPZ C>A	1	161277179	161277179	C	A	MPZ	c.103G>T	NM_000530.8	NP_000521.2:p.(Asp35Tyr)	NC_000001.10:g.161277179C>A	(Likely) pathogenic	1 lab	eaec1eaf48
2:179425431 TTN T>C	2	179425431	179425431	T	C	TTN	c.85428A>G	NM_001267550.2	NP_001254479.2:p.(Gln28476=)	NC_000002.11:g.179425431T>C	(Likely) benign	1 lab	eaf0f30b1e
17:75489244 SEPTIN9 A>G	17	75489244	75489244	A	G	SEPTIN9	c.1519+86A>G	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75489244A>G	(Likely) benign	1 lab	ebe30d9a97
3:64440696 MISSING Ref too long to show for this DEL>G	3	64440696	64651289	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.64440697_64651289del	VUS	1 lab	eaf123aad6
11:22261194 ANO5 C>T	11	22261194	22261194	C	T	ANO5	c.842C>T	NM_213599.3	NP_998764.1:p.(Ser281Phe)	NC_000011.9:g.22261194C>T	VUS	1 lab	eaf3c2c3bf
X:70444272 GJB1 C>A	X	70444272	70444272	C	A	GJB1	c.715C>A	NM_000166.6	NP_000157.1:p.(Leu239Ile)	NC_000023.10:g.70444272C>A	(Likely) pathogenic	1 lab	eaf7bcc45c
2:189868383 COL3A1 C>T	2	189868383	189868383	C	T	COL3A1	c.2608-77C>T	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189868383C>T	(Likely) benign	1 lab	eafb05e0b3
17:71189217 COG1 C>T	17	71189217	71189217	C	T	COG1	c.9C>T	NM_018714.3	NP_061184.1:p.(Thr3=)	NC_000017.10:g.71189217C>T	(Likely) benign	1 lab	eafb5ac2dc
17:56440783 RNF43 G>A	17	56440783	56440783	G	A	RNF43	c.451-16C>T	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56440783G>A	VUS	1 lab	eafe35fa00
2:21234551 APOB T>G	2	21234551	21234551	T	G	APOB	c.5189A>C	NM_000384.3	NP_000375.3:p.(Lys1730Thr)	NC_000002.11:g.21234551T>G	VUS	1 lab	eb07a0a96b
3:38627713 SCN5A G>A	3	38627713	38627713	G	A	SCN5A	c.2437-181C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627713G>A	(Likely) benign	1 lab	eb09e7f2da
22:50656245 TUBGCP6 G>A	22	50656245	50656245	G	A	TUBGCP6	c.5380C>T	NM_020461.4	NP_065194.3:p.(Leu1794=)	NC_000022.10:g.50656245G>A	(Likely) benign	1 lab	eb0f6bdcb8
19:11238696 LDLR T>C	19	11238696	11238696	T	C	LDLR	c.2324T>C	NM_000527.5	NP_000518.1:p.(Val775Ala)	NC_000019.9:g.11238696T>C	VUS	1 lab	eb143ec19c
2:25467198 DNMT3A G>A	2	25467198	25467198	G	A	DNMT3A	c.1677C>T	NM_022552.5	NP_072046.2:p.(Cys559=)	NC_000002.11:g.25467198G>A	(Likely) benign	1 lab	eb1669427c
9:107566914 ABCA1 CTA>C	9	107566914	107566917	CTA	C	ABCA1	c.4550_4551del	NM_005502.4	NP_005493.2:p.(Ile1517SerfsTer12)	NC_000009.11:g.107566916_107566917del	(Likely) pathogenic	1 lab	eb1936fa4b
15:34553225 SLC12A6 G>GA	15	34553225	34553235	G	GA	SLC12A6	c.290-5dup	NM_001042496.2	NP_001035961.1:p.?	NC_000015.9:g.34553235dup	(Likely) benign	1 lab	eb1b3e615c
12:125298961 SCARB1 G>A	12	125298961	125298961	G	A	SCARB1	c.427-10C>T	NM_001367981.1	NP_001354910.1:p.?	NC_000012.11:g.125298961G>A	(Likely) benign	1 lab	eb1cc47196
6:55659187 MISSING T>Alt too long to show for this DUP	6	55659187	56161480	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.55659189_56161480dup	VUS	1 lab	eb1f4f7306
12:133252338 POLE G>A	12	133252338	133252338	G	A	POLE	c.1089C>T	NM_006231.4	NP_006222.2:p.(Asn363=)	NC_000012.11:g.133252338G>A	(Likely) benign	1 lab	eb22fa59af
8:134128844 TG T>G	8	134128844	134128844	T	G	TG	c.7755-9T>G	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134128844T>G	(Likely) benign	1 lab	eb2a2fe800
7:151262791 PRKAG2 G>A	7	151262791	151262791	G	A	PRKAG2	c.1399+15C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151262791G>A	(Likely) benign	1 lab	eb2b3ad74c
9:7761877 MISSING Ref too long to show for this DEL>T	9	7761877	9768731	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.7761878_9768731del	(Likely) pathogenic	1 lab	eb2cf9153d
7:128630030 TNPO3 T>C	7	128630030	128630030	T	C	TNPO3	c.1483A>G	NM_012470.4	NP_036602.1:p.(Asn495Asp)	NC_000007.13:g.128630030T>C	VUS	1 lab	eb2e0c4d16
2:44065419 ABCG5 G>A	2	44065419	44065419	G	A	ABCG5	c.143+257C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44065419G>A	(Likely) benign	1 lab	eb3396eb99
2:179442329 TTN C>G	2	179442329	179442329	C	G	TTN	c.68824G>C	NM_001267550.2	NP_001254479.2:p.(Glu22942Gln)	NC_000002.11:g.179442329C>G	VUS	1 lab	eb34efa725
15:48764891 FBN1 C>T	15	48764891	48764891	C	T	FBN1	c.4211-18G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48764891C>T	(Likely) benign	1 lab	eb34fcb0c5
13:32912969 BRCA2 GAAAGT>G	13	32912969	32912974	GAAAGT	G	BRCA2	c.4478_4482del	NM_000059.4	NP_000050.3:p.(Glu1493GlyfsTer19)	NC_000013.10:g.32912970_32912974del	(Likely) pathogenic	1 lab	eb35da9c5c
15:80478500 FAH C>T	15	80478500	80478500	C	T	FAH	c.1209C>T	NM_000137.4	NP_000128.1:p.(Ile403=)	NC_000015.9:g.80478500C>T	(Likely) benign	1 lab	eb41471233
9:98220313 PTCH1 G>A	9	98220313	98220313	G	A	PTCH1	c.3150C>T	NM_000264.5	NP_000255.2:p.(Pro1050=)	NC_000009.11:g.98220313G>A	(Likely) benign	1 lab	eb41a7e0eb
12:122246206 SETD1B A>G	12	122246206	122246206	A	G	SETD1B	c.637A>G	NM_001353345.2	NP_001340274.1:p.(Ile213Val)	NC_000012.11:g.122246206A>G	(Likely) benign	1 lab	eb49366860
16:15812300 MYH11 G>A	16	15812300	15812300	G	A	MYH11	c.5193-5C>T	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15812300G>A	(Likely) benign	1 lab	eb4a5ccde8
19:55316488 KIR2DL4 C>T	19	55316488	55316488	C	T	KIR2DL4	c.317C>T	NM_001080772.2	NP_001074241.1:p.(Thr106Ile)	NC_000019.9:g.55316488C>T	(Likely) benign	1 lab	eb4ca47a51
15:48800774 FBN1 C>T	15	48800774	48800774	C	T	FBN1	c.1837+5G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48800774C>T	(Likely) pathogenic	1 lab	eb4f7561d4
16:79633603 MAF G>C	16	79633603	79633603	G	C	MAF	c.197C>G	NM_001031804.3	NP_001026974.1:p.(Ser66Trp)	NC_000016.9:g.79633603G>C	VUS	1 lab	eb53c14c06
10:121436483 BAG3 C>CG	10	121436483	121436484	C	CG	BAG3	c.1418dup	NM_004281.4	NP_004272.2:p.(Ala474SerfsTer22)	NC_000010.10:g.121436484dup	(Likely) pathogenic	1 lab	eb5428f1b2
16:14024698 ERCC4 T>C	16	14024698	14024698	T	C	ERCC4	c.924T>C	NM_005236.3	NP_005227.1:p.(Asn308=)	NC_000016.9:g.14024698T>C	(Likely) benign	1 lab	eb547dfba6
2:97851200 ANKRD36 C>T	2	97851200	97851200	C	T	ANKRD36	c.1994C>T	NM_001354587.1	NP_001341516.1:p.(Ala665Val)	NC_000002.11:g.97851200C>T	(Likely) benign	1 lab	eb5a7d3577
3:8787403 CAV3 G>A	3	8787403	8787403	G	A	CAV3	c.306G>A	NM_033337.3	NP_203123.1:p.(Ala102=)	NC_000003.11:g.8787403G>A	VUS	1 lab	eb6492d14d
16:89350537 ANKRD11 CTTTT>C	16	89350537	89350543	CTTTT	C	ANKRD11	c.2409_2412del	NM_001256182.2	NP_001243111.1:p.(Glu805ArgfsTer57)	NC_000016.9:g.89350540_89350543del	(Likely) pathogenic	1 lab	eb68cb87a3
11:63398495 ATL3 TCAG>T	11	63398495	63398503	TCAG	T	ATL3	c.1539+14_1539+16del	NM_015459.5	NP_056274.3:p.?	NC_000011.9:g.63398501_63398503del	(Likely) benign	1 lab	eb69c22de0
1:246889966 MISSING A>Alt too long to show for this DUP	1	246889966	247264900	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.246889968_247264900dup	(Likely) pathogenic	1 lab	eb6c98a36d
19:11217989 LDLR CTA>C	19	11217989	11217992	CTA	C	LDLR	c.818-77_818-76del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217991_11217992del	(Likely) benign	1 lab	eb6d2cf282
11:63410975 ATL3 T>C	11	63410975	63410975	T	C	ATL3	c.658-8A>G	NM_001290048.2	NP_001276977.1:p.?	NC_000011.9:g.63410975T>C	(Likely) benign	1 lab	eb6d96a699
2:44051400 ABCG5 T>C	2	44051400	44051400	T	C	ABCG5	c.1076A>G	NM_022436.3	NP_071881.1:p.(Lys359Arg)	NC_000002.11:g.44051400T>C	VUS	1 lab	eb6e385595
8:145742011 RECQL4 C>T	8	145742011	145742011	C	T	RECQL4	c.492G>A	NM_004260.4	NP_004251.4:p.(Glu164=)	NC_000008.10:g.145742011C>T	(Likely) benign	1 lab	eb787d4608
9:137658425 COL5A1 G>A	9	137658425	137658425	G	A	COL5A1	c.2133+81G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137658425G>A	(Likely) benign	1 lab	eb7ade8a39
4:155665486 LRAT AC>A	4	155665486	155665490	AC	A	LRAT	c.12del	NM_004744.5	NP_004735.2:p.(Met5CysfsTer54)	NC_000004.11:g.155665490del	(Likely) pathogenic	1 lab	eb7dc32b38
2:44099419 ABCG8 G>A	2	44099419	44099419	G	A	ABCG8	c.1185G>A	NM_022437.3	NP_071882.1:p.(Ala395=)	NC_000002.11:g.44099419G>A	(Likely) benign	1 lab	eb82e8f8e7
6:35477600 TULP1 T>C	6	35477600	35477600	T	C	TULP1	c.601+4A>G	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35477600T>C	(Likely) benign	1 lab	eb835f1b45
2:25384456 POMC C>CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT	2	25384456	25384477	C	CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT	POMC	c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGC	NM_001035256.3	NP_001030333.1:p.(Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGly)	NC_000002.11:g.25384476_25384477insCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGC	(Likely) benign	1 lab	eb85545653
10:92678744 ANKRD1 A>ATATATATAT	10	92678744	92678745	A	ATATATATAT	ANKRD1	c.346-16_346-15insATATATATA	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92678744_92678745insTATATATAT	(Likely) benign	1 lab	eb8b079e64
9:35706172 TLN1 CT>C	9	35706172	35706173	CT	C	TLN1	c.5361+20del	NM_006289.4	NP_006280.3:p.?	NC_000009.11:g.35706173del	(Likely) benign	1 lab	eb8d0dd70c
X:39930433 BCOR G>GA	X	39930433	39930446	G	GA	BCOR	c.3052-22dup	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39930446dup	(Likely) benign	1 lab	eb8ed76d5f
8:19809439 LPL C>T	8	19809439	19809439	C	T	LPL	c.409C>T	NM_000237.3	NP_000228.1:p.(Arg137Trp)	NC_000008.10:g.19809439C>T	VUS	1 lab	eb925f13ff
12:122255297 SETD1B G>A	12	122255297	122255297	G	A	SETD1B	c.2999G>A	NM_001353345.2	NP_001340274.1:p.(Arg1000Gln)	NC_000012.11:g.122255297G>A	(Likely) benign	1 lab	eb93042676
10:131639199 EBF3 C>T	10	131639199	131639199	C	T	EBF3	c.1443G>A	NM_001005463.3	NP_001005463.1:p.(Met481Ile)	NC_000010.10:g.131639199C>T	VUS	1 lab	eb9d62cad9
12:21349942 SLCO1B1 G>C	12	21349942	21349942	G	C	SLCO1B1	c.790G>C	NM_006446.5	NP_006437.3:p.(Val264Leu)	NC_000012.11:g.21349942G>C	VUS	1 lab	eba253438d
4:166300588 CPE C>T	4	166300588	166300588	C	T	CPE	c.215C>T	NM_001873.4	NP_001864.1:p.(Ala72Val)	NC_000004.11:g.166300588C>T	(Likely) benign	1 lab	eba77e7fd2
2:44102436 ABCG8 T>C	2	44102436	44102436	T	C	ABCG8	c.1640T>C	NM_022437.3	NP_071882.1:p.(Leu547Pro)	NC_000002.11:g.44102436T>C	(Likely) pathogenic	1 lab	eba866df4a
6:135792770 MISSING Ref too long to show for this DEL>A	6	135792770	135829796	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.135792771_135829796del	VUS	1 lab	ebb305f638
7:8197927 MISSING C>Alt too long to show for this DUP	7	8197927	8520161	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.8197929_8520161dup	VUS	1 lab	ebb4a2bbda
X:10535077 MID1 G>A	X	10535077	10535077	G	A	MID1	c.511C>T	NM_000381.4	NP_000372.1:p.(Arg171Trp)	NC_000023.10:g.10535077G>A	VUS	1 lab	ebb51f58aa
X:129730221 MISSING G>Alt too long to show for this DUP	X	129730221	130234949	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.129730222_130234949dup	VUS	1 lab	ebc065c562
6:75844555 COL12A1 C>T	6	75844555	75844555	C	T	COL12A1	c.5411G>A	NM_004370.6	NP_004361.3:p.(Arg1804Gln)	NC_000006.11:g.75844555C>T	VUS	1 lab	ebc1b9a980
1:110686852 MISSING Ref too long to show for this DEL>G	1	110686852	113919224	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.110686854_113919224del	VUS	1 lab	ebc2f1b89e
16:49669796 ZNF423 G>A	16	49669796	49669796	G	A	ZNF423	c.3087C>T	NM_001271620.2	NP_001258549.1:p.(Tyr1029=)	NC_000016.9:g.49669796G>A	(Likely) benign	1 lab	ebc87f99ae
17:79496006 FSCN2 G>A	17	79496006	79496006	G	A	FSCN2	c.449G>A	NM_001077182.3	NP_001070650.1:p.(Arg150His)	NC_000017.10:g.79496006G>A	VUS	1 lab	ebca5fd617
5:140070895 HARS1 C>A	5	140070895	140070895	C	A	HARS1	c.-6G>T	NM_002109.6	NP_002100.2:p.?	NC_000005.9:g.140070895C>A	(Likely) benign	1 lab	ebd0d07920
17:56798152 RAD51C G>A	17	56798152	56798152	G	A	RAD51C	c.883G>A	NM_058216.3	NP_478123.1:p.(Ala295Thr)	NC_000017.10:g.56798152G>A	VUS	1 lab	ebd461b384
6:7556039 DSP C>A	6	7556039	7556039	C	A	DSP	c.259C>A	NM_004415.4	NP_004406.2:p.(Leu87Ile)	NC_000006.11:g.7556039C>A	VUS	1 lab	ebd628af07
14:50938568 MAP4K5 C>Alt too long to show for this DUP	14	50938568	50993739	C	Alt too long to show for this DUP	MAP4K5	c.108+4922_543-3069dup	NM_006575.6	NP_006566.2:p.?	NC_000014.8:g.50938570_50993739dup	VUS	1 lab	ebd7dbc62a
1:3322112 PRDM16 C>T	1	3322112	3322112	C	T	PRDM16	c.1086C>T	NM_022114.4	NP_071397.3:p.(Gly362=)	NC_000001.10:g.3322112C>T	(Likely) benign	1 lab	ebe044590f
12:50502917 GPD1 CAAAA>C	12	50502917	50502941	CAAAA	C	GPD1	c.954-268_954-265del	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50502938_50502941del	(Likely) benign	1 lab	ebe23ffe66
1:156849946 NTRK1 G>A	1	156849946	156849946	G	A	NTRK1	c.2202G>A	NM_002529.4	NP_002520.2:p.(Thr734=)	NC_000001.10:g.156849946G>A	(Likely) benign	1 lab	ebe43f1890
18:34273346 FHOD3 G>A	18	34273346	34273346	G	A	FHOD3	c.2196G>A	NM_001281740.3	NP_001268669.1:p.(Thr732=)	NC_000018.9:g.34273346G>A	(Likely) benign	1 lab	ebedc5f256
8:3729910 CSMD1 C>Alt too long to show for this DUP	8	3729910	4005301	C	Alt too long to show for this DUP	CSMD1	c.416-115677_819-118347dup	NM_033225.6	NP_150094.5:p.?	NC_000008.10:g.3729914_4005301dup	(Likely) pathogenic	1 lab	ebef4b90f3
1:161275729 MPZ G>A	1	161275729	161275729	G	A	MPZ	c.684C>T	NM_000530.8	NP_000521.2:p.(Ser228=)	NC_000001.10:g.161275729G>A	(Likely) benign	1 lab	ebf77b7555
1:25883764 LDLRAP1 C>A	1	25883764	25883764	C	A	LDLRAP1	c.459+6C>A	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883764C>A	(Likely) benign	1 lab	ec05ca032d
16:81348736 GAN C>CA	16	81348736	81348737	C	CA	GAN	c.18_19insA	NM_022041.4	NP_071324.1:p.(Val7SerfsTer3)	NC_000016.9:g.81348736_81348737insA	(Likely) pathogenic	1 lab	ec0671f0a7
7:94054437 COL1A2 T>A	7	94054437	94054437	T	A	COL1A2	c.2682T>A	NM_000089.4	NP_000080.2:p.(Pro894=)	NC_000007.13:g.94054437T>A	(Likely) benign	1 lab	ec07646126
11:18327056 HPS5 A>G	11	18327056	18327056	A	G	HPS5	c.825-16T>C	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18327056A>G	(Likely) benign	1 lab	ec0c937547
10:75866980 VCL G>A	10	75866980	75866980	G	A	VCL	c.2435-8G>A	NM_014000.3	NP_054706.1:p.?	NC_000010.10:g.75866980G>A	(Likely) benign	1 lab	ec0cf7653e
2:218768253 TNS1 T>Alt too long to show for this DUP	2	218768253	218809608	T	Alt too long to show for this DUP	TNS1	c.187-24647_321+2804dup	NM_001387777.1	NP_001374706.1:p.?	NC_000002.11:g.218768256_218809608dup	VUS	1 lab	ec10c569b8
3:195513203 MUC4 C>T	3	195513203	195513203	C	T	MUC4	c.5248G>A	NM_018406.7	NP_060876.5:p.(Ala1750Thr)	NC_000003.11:g.195513203C>T	(Likely) benign	1 lab	ec11603eea
1:223177867 DISP1 C>T	1	223177867	223177867	C	T	DISP1	c.3128C>T	NM_032890.5	NP_116279.2:p.(Ser1043Leu)	NC_000001.10:g.223177867C>T	VUS	1 lab	ec130d30c6
17:74392666 UBE2O G>A	17	74392666	74392666	G	A	UBE2O	c.2352C>T	NM_022066.4	NP_071349.3:p.(Ala784=)	NC_000017.10:g.74392666G>A	(Likely) benign	1 lab	ec220b333b
16:89325562 MISSING Ref too long to show for this DEL>C	16	89325562	89480976	Ref too long to show for this DEL	C	MISSING				NC_000016.9:g.89325563_89480976del	(Likely) pathogenic	1 lab	ec28dd827d
9:34241447 UBAP1 CAG>C	9	34241447	34241450	CAG	C	UBAP1	c.426_427del	NM_001171203.3	NP_001164674.1:p.(Lys143SerfsTer15)	NC_000009.11:g.34241449_34241450del	(Likely) pathogenic	1 lab	ec29483dba
16:72130345 DHX38 G>A	16	72130345	72130345	G	A	DHX38	c.289G>A	NM_014003.4	NP_054722.2:p.(Gly97Ser)	NC_000016.9:g.72130345G>A	(Likely) benign	1 lab	ec29eccbc2
19:11240629 LDLR A>G	19	11240629	11240629	A	G	LDLR	c.2547+283A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11240629A>G	(Likely) benign	1 lab	ec2a084912
11:116660785 APOA5 G>T	11	116660785	116660785	G	T	APOA5	c.*59C>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116660785G>T	(Likely) benign	1 lab	ec2f3ec5fe
13:32953901 BRCA2 TG>T	13	32953901	32953903	TG	T	BRCA2	c.8970del	NM_000059.4	NP_000050.3:p.(Trp2990CysfsTer11)	NC_000013.10:g.32953903del	(Likely) pathogenic	1 lab	ec2f593a2c
11:116662569 APOA5 C>T	11	116662569	116662569	C	T	APOA5	c.8G>A	NM_052968.5	NP_443200.2:p.(Ser3Asn)	NC_000011.9:g.116662569C>T	(Likely) benign	1 lab	ec33c5be30
14:75018881 LTBP2 G>A	14	75018881	75018881	G	A	LTBP2	c.1399+9C>T	NM_000428.3	NP_000419.1:p.?	NC_000014.8:g.75018881G>A	(Likely) benign	1 lab	ec37375419
9:107574960 ABCA1 C>T	9	107574960	107574960	C	T	ABCA1	c.3945G>A	NM_005502.4	NP_005493.2:p.(Gly1315=)	NC_000009.11:g.107574960C>T	(Likely) benign	1 lab	ec38a72884
15:48517284 MISSING G>Alt too long to show for this DUP	15	48517284	48618653	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.48517285_48618653dup	VUS	1 lab	ec3a872d84
7:91732035 AKAP9 G>C	7	91732035	91732035	G	C	AKAP9	c.11225G>C	NM_005751.5	NP_005742.4:p.(Arg3742Pro)	NC_000007.13:g.91732035G>C	(Likely) benign	1 lab	ec3d45046a
15:73621941 HCN4 G>A	15	73621941	73621941	G	A	HCN4	c.1563C>T	NM_005477.3	NP_005468.1:p.(Asp521=)	NC_000015.9:g.73621941G>A	(Likely) benign	1 lab	ec43577c60
11:63419469 ATL3 A>G	11	63419469	63419469	A	G	ATL3	c.457-11T>C	NM_001290048.2	NP_001276977.1:p.?	NC_000011.9:g.63419469A>G	(Likely) benign	1 lab	ec441e0757
12:21349881 SLCO1B1 C>T	12	21349881	21349881	C	T	SLCO1B1	c.729C>T	NM_006446.5	NP_006437.3:p.(Ser243=)	NC_000012.11:g.21349881C>T	(Likely) benign	1 lab	ec4c32093b
18:29111077 DSG2 AT>A	18	29111077	29111078	AT	A	DSG2	c.1143del	NM_001943.5	NP_001934.2:p.(Asn381LysfsTer2)	NC_000018.9:g.29111078del	(Likely) pathogenic	1 lab	ec4f56b92a
2:25384503 POMC C>T	2	25384503	25384503	C	T	POMC	c.251G>A	NM_001035256.3	NP_001030333.1:p.(Trp84Ter)	NC_000002.11:g.25384503C>T	(Likely) pathogenic	1 lab	ec567e0ff6
20:32439903 CHMP4B A>C	20	32439903	32439903	A	C	CHMP4B	c.504A>C	NM_176812.5	NP_789782.1:p.(Leu168Phe)	NC_000020.10:g.32439903A>C	VUS	1 lab	ec5751e937
6:15383716 JARID2 Ref too long to show for this DEL>A	6	15383716	15462043	Ref too long to show for this DEL	A	JARID2	c.181+9240_494-6730del	NM_004973.4	NP_004964.2:p.?	NC_000006.11:g.15383723_15462043del	(Likely) pathogenic	1 lab	ec5a46cd05
2:170003237 LRP2 C>T	2	170003237	170003237	C	T	LRP2	c.12811+12G>A	NM_004525.3	NP_004516.2:p.?	NC_000002.11:g.170003237C>T	(Likely) benign	1 lab	ec5abe7389
11:550246 LRRC56 C>T	11	550246	550246	C	T	LRRC56	c.598C>T	NM_198075.4	NP_932341.1:p.(Gln200Ter)	NC_000011.9:g.550246C>T	(Likely) pathogenic	1 lab	ec5ad00f64
8:144900160 PUF60 AC>A	8	144900160	144900161	AC	A	PUF60	c.799del	NM_001362896.2	NP_001349825.1:p.(Val267TrpfsTer58)	NC_000008.10:g.144900161del	(Likely) pathogenic	1 lab	ec5b785ab8
22:50656897 TUBGCP6 G>A	22	50656897	50656897	G	A	TUBGCP6	c.4954+20C>T	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50656897G>A	(Likely) benign	1 lab	ec5f2c02c0
14:81610634 TSHR C>G	14	81610634	81610634	C	G	TSHR	c.2232C>G	NM_000369.5	NP_000360.2:p.(Asn744Lys)	NC_000014.8:g.81610634C>G	(Likely) benign	1 lab	ec6972a082
17:51831176 MISSING Ref too long to show for this DEL>T	17	51831176	51986612	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.51831179_51986612del	VUS	1 lab	ec6ad9e685
2:203421199 BMPR2 G>A	2	203421199	203421199	G	A	BMPR2	c.2811G>A	NM_001204.7	NP_001195.2:p.(Arg937=)	NC_000002.11:g.203421199G>A	(Likely) benign	1 lab	ec719b1f7f
18:67788941 RTTN A>G	18	67788941	67788941	A	G	RTTN	c.3384-5T>C	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67788941A>G	(Likely) benign	1 lab	ec7522c5f4
4:647889 PDE6B T>C	4	647889	647889	T	C	PDE6B	c.873T>C	NM_000283.4	NP_000274.3:p.(Ser291=)	NC_000004.11:g.647889T>C	(Likely) benign	1 lab	ec7ff4e35f
2:21232630 APOB C>T	2	21232630	21232630	C	T	APOB	c.7110G>A	NM_000384.3	NP_000375.3:p.(Leu2370=)	NC_000002.11:g.21232630C>T	(Likely) benign	1 lab	ec82ab7bda
5:112179690 APC C>T	5	112179690	112179690	C	T	APC	c.8399C>T	NM_000038.6	NP_000029.2:p.(Ala2800Val)	NC_000005.9:g.112179690C>T	VUS	1 lab	ec874a149f
1:20972114 PINK1 A>G	1	20972114	20972114	A	G	PINK1	c.1021A>G	NM_032409.3	NP_115785.1:p.(Met341Val)	NC_000001.10:g.20972114A>G	(Likely) benign	1 lab	ec881d0cdf
2:21232165 APOB T>C	2	21232165	21232165	T	C	APOB	c.7575A>G	NM_000384.3	NP_000375.3:p.(Gln2525=)	NC_000002.11:g.21232165T>C	(Likely) benign	1 lab	ec89535446
16:929829 LMF1 G>C	16	929829	929829	G	C	LMF1	c.331-92C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929829G>C	(Likely) benign	1 lab	ec902d6430
7:140386035 MISSING A>Alt too long to show for this DUP	7	140386035	140539042	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.140386038_140539042dup	VUS	1 lab	ec9389ba02
X:47058461 UBA1 C>T	X	47058461	47058461	C	T	UBA1	c.132C>T	NM_003334.4	NP_003325.2:p.(Asn44=)	NC_000023.10:g.47058461C>T	(Likely) benign	1 lab	ec9580df71
X:152710296 TREX2 A>T	X	152710296	152710296	A	T	TREX2	c.593T>A	NM_080701.4	NP_542432.2:p.(Leu198His)	NC_000023.10:g.152710296A>T	VUS	1 lab	ec96776533
17:74729175 METTL23 AAATG>A	17	74729175	74729182	AAATG	A	METTL23	c.204_207del	NM_001206983.3	NP_001193912.1:p.(Met68IlefsTer9)	NC_000017.10:g.74729179_74729182del	(Likely) pathogenic	1 lab	ec9a063a82
11:68173917 LRP5 T>C	11	68173917	68173917	T	C	LRP5	c.1802-75T>C	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68173917T>C	(Likely) benign	1 lab	ec9c69924a
2:21260092 APOB G>A	2	21260092	21260092	G	A	APOB	c.573C>T	NM_000384.3	NP_000375.3:p.(Thr191=)	NC_000002.11:g.21260092G>A	(Likely) benign	1 lab	eca039db7e
3:49042515 P4HTM T>G	3	49042515	49042515	T	G	P4HTM	c.1109T>G	NM_177938.2	NP_808807.2:p.(Leu370Arg)	NC_000003.11:g.49042515T>G	(Likely) benign	1 lab	ecb20bccc2
8:55541040 RP1 C>CA	8	55541040	55541042	C	CA	RP1	c.4600dup	NM_006269.2	NP_006260.1:p.(Thr1534AsnfsTer10)	NC_000008.10:g.55541042dup	(Likely) pathogenic	1 lab	ecb2e62633
2:173678998 MISSING Ref too long to show for this DEL>G	2	173678998	179518241	Ref too long to show for this DEL	G	MISSING				NC_000002.11:g.173679000_179518241del	(Likely) pathogenic	1 lab	ecb310da6f
16:68845711 CDH1 T>A	16	68845711	68845711	T	A	CDH1	c.957T>A	NM_004360.5	NP_004351.1:p.(Ile319=)	NC_000016.9:g.68845711T>A	(Likely) benign	1 lab	ecb9ee2dfa
6:16130857 MYLIP A>C	6	16130857	16130857	A	C	MYLIP	c.157A>C	NM_013262.4	NP_037394.2:p.(Ser53Arg)	NC_000006.11:g.16130857A>C	VUS	1 lab	ecbfcbfde5
1:101190173 VCAM1 C>T	1	101190173	101190173	C	T	VCAM1	c.662-7C>T	NM_001078.4	NP_001069.1:p.?	NC_000001.10:g.101190173C>T	(Likely) benign	1 lab	ecc32bcda5
19:47260141 FKRP C>T	19	47260141	47260141	C	T	FKRP	c.1434C>T	NM_001039885.3	NP_001034974.1:p.(Ile478=)	NC_000019.9:g.47260141C>T	(Likely) benign	1 lab	ecc4cde7eb
4:55955023 KDR G>A	4	55955023	55955023	G	A	KDR	c.3510+12C>T	NM_002253.3	NP_002244.1:p.?	NC_000004.11:g.55955023G>A	(Likely) benign	1 lab	ecc5872c50
21:46907442 COL18A1 C>G	21	46907442	46907442	C	G	COL18A1	c.3141+19C>G	NM_130444.3	NP_569711.2:p.?	NC_000021.8:g.46907442C>G	(Likely) benign	1 lab	ecc74498d1
19:50412861 NUP62 G>A	19	50412861	50412861	G	A	NUP62	c.204C>T	NM_016553.5	NP_057637.2:p.(Ala68=)	NC_000019.9:g.50412861G>A	(Likely) benign	1 lab	ecca9db9f5
19:11210939 LDLR C>A	19	11210939	11210939	C	A	LDLR	c.108C>A	NM_000527.5	NP_000518.1:p.(Asp36Glu)	NC_000019.9:g.11210939C>A	(Likely) benign	1 lab	eccafcf40f
8:144994068 PLEC G>A	8	144994068	144994068	G	A	PLEC	c.10332C>T	NM_201380.4	NP_958782.1:p.(Gly3444=)	NC_000008.10:g.144994068G>A	(Likely) benign	1 lab	eccc80b597
8:104473791 MISSING Ref too long to show for this DEL>A	8	104473791	105123355	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.104473793_105123355del	VUS	1 lab	ecd0d781e3
15:85360662 ALPK3 G>A	15	85360662	85360662	G	A	ALPK3	c.-22G>A	NM_020778.5	NP_065829.4:p.?	NC_000015.9:g.85360662G>A	(Likely) benign	1 lab	ecd10a6ede
18:47093932 LIPG G>A	18	47093932	47093932	G	A	LIPG	c.400G>A	NM_006033.4	NP_006024.1:p.(Ala134Thr)	NC_000018.9:g.47093932G>A	VUS	1 lab	ecd9644a95
5:177036035 B4GALT7 T>C	5	177036035	177036035	T	C	B4GALT7	c.828+20T>C	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177036035T>C	(Likely) benign	1 lab	ecda9bbc02
7:128049326 IMPDH1 G>A	7	128049326	128049326	G	A	IMPDH1	c.254+17C>T	NM_000883.4	NP_000874.2:p.?	NC_000007.13:g.128049326G>A	(Likely) benign	1 lab	ecdb497773
7:73452082 ELN G>C	7	73452082	73452082	G	C	ELN	c.196+13G>C	NM_000501.4	NP_000492.2:p.?	NC_000007.13:g.73452082G>C	(Likely) benign	1 lab	ecde449876
20:34060609 CEP250 CT>C	20	34060609	34060611	CT	C	CEP250	c.1164del	NM_007186.6	NP_009117.2:p.(Thr389LeufsTer7)	NC_000020.10:g.34060611del	(Likely) pathogenic	1 lab	ecdeccd1d3
8:145739112 RECQL4 T>C	8	145739112	145739112	T	C	RECQL4	c.2059-16A>G	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145739112T>C	(Likely) benign	1 lab	ecdedcbb27
12:2702359 CACNA1C T>C	12	2702359	2702359	T	C	CACNA1C	c.2531-20T>C	NM_001167623.2	NP_001161095.1:p.?	NC_000012.11:g.2702359T>C	(Likely) benign	1 lab	ece0123178
8:144296117 GPIHBP1 A>G	8	144296117	144296117	A	G	GPIHBP1	c.181+292A>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144296117A>G	(Likely) benign	1 lab	ece2336d1f
15:63335092 TPM1 G>A	15	63335092	63335092	G	A	TPM1	c.64G>A	NM_001018004.2	NP_001018004.1:p.(Ala22Thr)	NC_000015.9:g.63335092G>A	VUS	1 lab	eceb6a87ba
17:37532506 MISSING A>Alt too long to show for this DUP	17	37532506	37779496	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.37532507_37779496dup	VUS	1 lab	ecf0945176
11:47357369 MYBPC3 A>G	11	47357369	47357369	A	G	MYBPC3	c.2737+59T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357369A>G	(Likely) benign	1 lab	ecf5066e7f
16:8906982 PMM2 G>C	16	8906982	8906982	G	C	PMM2	c.639+19G>C	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8906982G>C	(Likely) benign	1 lab	ecf61bc6dd
8:100844569 VPS13B A>ATTTTTTTTTTTTTTTTTTTTTTTTTTT	8	100844569	100844595	A	ATTTTTTTTTTTTTTTTTTTTTTTTTTT	VPS13B	c.9406-3_9406-2insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_017890.5	NP_060360.3:p.?	NC_000008.10:g.100844594_100844595insTTTTTTTTTTTTTTTTTTTTTTTTTTT	(Likely) benign	1 lab	ecf9534ea0
19:45411061 APOE C>A	19	45411061	45411061	C	A	APOE	c.166C>A	NM_001302688.2	NP_001289617.1:p.(Pro56Thr)	NC_000019.9:g.45411061C>A	VUS	1 lab	ecf9dca5c9
7:6026306 PMS2 G>C	7	6026306	6026306	G	C	PMS2	c.2006+84C>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6026306G>C	(Likely) benign	1 lab	ecfd8402af
2:61719472 XPO1 C>T	2	61719472	61719472	C	T	XPO1	c.1711G>A	NM_003400.4	NP_003391.1:p.(Glu571Lys)	NC_000002.11:g.61719472C>T	VUS	1 lab	ed032838ae
2:179422949 TTN A>C	2	179422949	179422949	A	C	TTN	c.87132T>G	NM_001267550.2	NP_001254479.2:p.(Ile29044Met)	NC_000002.11:g.179422949A>C	VUS	1 lab	ed060605e4
2:179629304 TTN G>T	2	179629304	179629304	G	T	TTN	c.9938C>A	NM_001256850.1	NP_001243779.1:p.(Ala3313Asp)	NC_000002.11:g.179629304G>T	VUS	1 lab	ed09383dc3
4:100512960 MTTP T>C	4	100512960	100512960	T	C	MTTP	c.758+13T>C	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512960T>C	(Likely) benign	1 lab	ed0b6518c3
2:1687457 PXDN T>C	2	1687457	1687457	T	C	PXDN	c.531A>G	NM_012293.3	NP_036425.1:p.(Thr177=)	NC_000002.11:g.1687457T>C	(Likely) benign	1 lab	ed173ba2ab
2:73679210 ALMS1 A>G	2	73679210	73679210	A	G	ALMS1	c.5559A>G	NM_015120.4	NP_055935.4:p.(Pro1853=)	NC_000002.11:g.73679210A>G	(Likely) benign	1 lab	ed5a5b8a5a
17:72305468 DNAI2 G>A	17	72305468	72305468	G	A	DNAI2	c.1288G>A	NM_023036.6	NP_075462.3:p.(Gly430Arg)	NC_000017.10:g.72305468G>A	VUS	1 lab	ed17fe87a7
5:131924356 RAD50 T>C	5	131924356	131924356	T	C	RAD50	c.1052-23T>C	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131924356T>C	(Likely) benign	1 lab	ed1840e5ef
11:47361104 MYBPC3 C>CGTGCACATGTGGGTGGGGT	11	47361104	47361128	C	CGTGCACATGTGGGTGGGGT	MYBPC3	c.2067+79_2067+97dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361110_47361128dup	(Likely) benign	1 lab	ed1f05cdfc
X:106888343 MISSING Ref too long to show for this DEL>C	X	106888343	106928026	Ref too long to show for this DEL	C	MISSING				NC_000023.10:g.106888344_106928026del	VUS	1 lab	ed2686f7b4
1:161276581 MPZ T>C	1	161276581	161276581	T	C	MPZ	c.365A>G	NM_000530.8	NP_000521.2:p.(Asn122Ser)	NC_000001.10:g.161276581T>C	(Likely) pathogenic	1 lab	ed273b0adb
2:179542951 TTN T>C	2	179542951	179542951	T	C	TTN	c.30179-16A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179542951T>C	VUS	1 lab	ed29a3364e
12:133210767 POLE C>A	12	133210767	133210767	C	A	POLE	c.6004+5G>T	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133210767C>A	VUS	1 lab	ed2d5d0fae
17:1582109 PRPF8 G>A	17	1582109	1582109	G	A	PRPF8	c.1666C>T	NM_006445.4	NP_006436.3:p.(Leu556=)	NC_000017.10:g.1582109G>A	(Likely) benign	1 lab	ed2e0e8f05
9:107623807 ABCA1 G>C	9	107623807	107623807	G	C	ABCA1	c.543+153C>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107623807G>C	(Likely) benign	1 lab	ed2e62f6de
11:102207734 BIRC3 T>G	11	102207734	102207734	T	G	BIRC3	c.1716T>G	NM_001165.5	NP_001156.1:p.(Cys572Trp)	NC_000011.9:g.102207734T>G	VUS	1 lab	ed2ed959db
19:11199957 LDLR G>T	19	11199957	11199957	G	T	LDLR				NC_000019.9:g.11199957G>T	(Likely) benign	1 lab	ed2f972b2a
3:38627660 SCN5A C>CCA	3	38627660	38627662	C	CCA	SCN5A	c.2437-129_2437-128insTG	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38627661_38627662insAC	(Likely) benign	1 lab	ed2fbde5e1
8:100831679 VPS13B A>G	8	100831679	100831679	A	G	VPS13B	c.8736A>G	NM_017890.5	NP_060360.3:p.(Ser2912=)	NC_000008.10:g.100831679A>G	(Likely) benign	1 lab	ed3523b52f
2:179591848 TTN G>C	2	179591848	179591848	G	C	TTN	c.20244C>G	NM_001267550.2	NP_001254479.2:p.(Ser6748Arg)	NC_000002.11:g.179591848G>C	VUS	1 lab	ed3977058b
15:45444518 DUOX1 A>G	15	45444518	45444518	A	G	DUOX1	c.3228A>G	NM_017434.5	NP_059130.2:p.(Thr1076=)	NC_000015.9:g.45444518A>G	(Likely) benign	1 lab	ed3a25a07e
10:94366137 KIF11 A>G	10	94366137	94366137	A	G	KIF11	c.193A>G	NM_004523.4	NP_004514.2:p.(Thr65Ala)	NC_000010.10:g.94366137A>G	(Likely) benign	1 lab	ed45767160
21:37429778 SETD4 TA>T	21	37429778	37429792	TA	T	SETD4	c.-93-4del	NM_001286752.2	NP_001273681.1:p.?	NC_000021.8:g.37429792del	(Likely) benign	1 lab	ed47ec0b99
X:25031862 ARX T>A	X	25031862	25031862	T	A	ARX	c.250A>T	NM_139058.3	NP_620689.1:p.(Lys84Ter)	NC_000023.10:g.25031862T>A	(Likely) pathogenic	1 lab	ed4dd604fd
12:124387574 DNAH10 G>A	12	124387574	124387574	G	A	DNAH10	c.9375G>A	NM_207437.3	NP_997320.2:p.(Glu3125=)	NC_000012.11:g.124387574G>A	(Likely) benign	1 lab	ed4df447f1
X:118604007 SLC25A5 C>T	X	118604007	118604007	C	T	SLC25A5	c.495C>T	NM_001152.5	NP_001143.2:p.(Tyr165=)	NC_000023.10:g.118604007C>T	(Likely) benign	1 lab	ed4fe7d25b
22:29886386 NEFH C>T	22	29886386	29886386	C	T	NEFH	c.2757C>T	NM_021076.4	NP_066554.2:p.(Asp919=)	NC_000022.10:g.29886386C>T	(Likely) benign	1 lab	ed5105c4be
12:109293187 DAO G>A	12	109293187	109293187	G	A	DAO	c.848G>A	NM_001917.5	NP_001908.3:p.(Arg283Gln)	NC_000012.11:g.109293187G>A	VUS	1 lab	ed5176e0b4
15:73615740 HCN4 G>A	15	73615740	73615740	G	A	HCN4	c.2694C>T	NM_005477.3	NP_005468.1:p.(Gly898=)	NC_000015.9:g.73615740G>A	(Likely) benign	1 lab	ed54820f37
19:12949447 MAST1 A>C	19	12949447	12949447	A	C	MAST1	c.61A>C	NM_014975.3	NP_055790.1:p.(Ser21Arg)	NC_000019.9:g.12949447A>C	VUS	1 lab	ed564612a2
7:98507877 TRRAP A>C	7	98507877	98507877	A	C	TRRAP	c.1549A>C	NM_001244580.2	NP_001231509.1:p.(Thr517Pro)	NC_000007.13:g.98507877A>C	(Likely) benign	1 lab	ed5668f8bd
22:29876995 NEFH C>A	22	29876995	29876995	C	A	NEFH	c.744C>A	NM_021076.4	NP_066554.2:p.(Ser248=)	NC_000022.10:g.29876995C>A	(Likely) benign	1 lab	ed59769c8a
5:178413431 GRM6 C>G	5	178413431	178413431	C	G	GRM6	c.1824G>C	NM_000843.4	NP_000834.2:p.(Val608=)	NC_000005.9:g.178413431C>G	(Likely) benign	1 lab	ed5e2af5d5
1:150298191 PRPF3 C>T	1	150298191	150298191	C	T	PRPF3	c.-356-18C>T	NM_001350529.1	NP_001337458.1:p.?	NC_000001.10:g.150298191C>T	VUS	1 lab	ed66bf48a3
12:49580242 TUBA1A C>A	12	49580242	49580242	C	A	TUBA1A	c.227-1G>T	NM_006009.4	NP_006000.2:p.?	NC_000012.11:g.49580242C>A	VUS	1 lab	ed6881939d
17:63531811 AXIN2 T>C	17	63531811	63531811	T	C	AXIN2	c.2170A>G	NM_004655.4	NP_004646.3:p.(Arg724Gly)	NC_000017.10:g.63531811T>C	(Likely) benign	1 lab	ed7324ba00
22:31328646 MORC2 T>A	22	31328646	31328646	T	A	MORC2	c.2447A>T	NM_014941.3	NP_055756.1:p.(Gln816Leu)	NC_000022.10:g.31328646T>A	VUS	1 lab	ed74e0ce66
1:94522327 ABCA4 A>G	1	94522327	94522327	A	G	ABCA4	c.2212T>C	NM_000350.3	NP_000341.2:p.(Leu738=)	NC_000001.10:g.94522327A>G	(Likely) benign	1 lab	ed7776aa94
15:32737825 GOLGA8O C>G	15	32737825	32737825	C	G	GOLGA8O	c.1561G>C	NM_001277308.1	NP_001264237.1:p.(Asp521His)	NC_000015.9:g.32737825C>G	(Likely) benign	1 lab	ed78cfe826
19:11210967 LDLR T>G	19	11210967	11210967	T	G	LDLR	c.136T>G	NM_000527.5	NP_000518.1:p.(Cys46Gly)	NC_000019.9:g.11210967T>G	(Likely) pathogenic	1 lab	ed7b9a1421
4:183245222 TENM3 C>A	4	183245222	183245222	C	A	TENM3	c.49C>A	NM_001080477.4	NP_001073946.1:p.(Arg17=)	NC_000004.11:g.183245222C>A	(Likely) benign	1 lab	ed80ae7800
2:1480873 TPO C>T	2	1480873	1480873	C	T	TPO	c.835C>T	NM_001206744.2	NP_001193673.1:p.(Arg279Trp)	NC_000002.11:g.1480873C>T	(Likely) benign	1 lab	ed81e555a4
10:90974657 LIPA G>A	10	90974657	90974657	G	A	LIPA	c.1128C>T	NM_000235.4	NP_000226.2:p.(Asp376=)	NC_000010.10:g.90974657G>A	(Likely) benign	1 lab	ed83c42579
2:167168263 SCN9A C>T	2	167168263	167168263	C	T	SCN9A	c.4G>A	NM_002977.3	NP_002968.1:p.(Ala2Thr)	NC_000002.11:g.167168263C>T	VUS	1 lab	ed8771ccf5
17:8192922 SLC25A35 C>T	17	8192922	8192922	C	T	SLC25A35	c.*12G>A	NM_201520.3	NP_958928.1:p.?	NC_000017.10:g.8192922C>T	(Likely) benign	1 lab	ed8a284717
X:130415180 IGSF1 C>CA	X	130415180	130415182	C	CA	IGSF1	c.1646+11dup	NM_001170961.2	NP_001164432.1:p.?	NC_000023.10:g.130415182dup	(Likely) benign	1 lab	ed90038d64
2:179613739 TTN A>G	2	179613739	179613739	A	G	TTN	c.13388T>C	NM_133379.5	NP_596870.2:p.(Phe4463Ser)	NC_000002.11:g.179613739A>G	VUS	1 lab	ed9ba04362
15:34531233 SLC12A6 C>T	15	34531233	34531233	C	T	SLC12A6	c.2565G>A	NM_133647.2	NP_598408.1:p.(Thr855=)	NC_000015.9:g.34531233C>T	(Likely) benign	1 lab	eda49944f8
11:108173754 ATM G>A	11	108173754	108173754	G	A	ATM	c.5494G>A	NM_000051.4	NP_000042.3:p.(Glu1832Lys)	NC_000011.9:g.108173754G>A	VUS	1 lab	eda5b064eb
19:11217576 LDLR G>C	19	11217576	11217576	G	C	LDLR	c.817+213G>C	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11217576G>C	(Likely) benign	1 lab	eda8e72bb6
10:100177356 HPS1 G>A	10	100177356	100177356	G	A	HPS1	c.2068C>T	NM_000195.5	NP_000186.2:p.(Arg690Cys)	NC_000010.10:g.100177356G>A	(Likely) benign	1 lab	edaee9de0a
12:50501752 GPD1 C>A	12	50501752	50501752	C	A	GPD1	c.847-55C>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501752C>A	(Likely) benign	1 lab	ee028d7b73
6:32017242 TNXB C>T	6	32017242	32017242	C	T	TNXB	c.9556G>A	NM_019105.8	NP_061978.6:p.(Val3186Ile)	NC_000006.11:g.32017242C>T	(Likely) benign	1 lab	edb64de5ae
1:156843579 NTRK1 G>A	1	156843579	156843579	G	A	NTRK1	c.1005G>A	NM_002529.4	NP_002520.2:p.(Pro335=)	NC_000001.10:g.156843579G>A	(Likely) benign	1 lab	edbfa83636
10:48389737 RBP3 C>G	10	48389737	48389737	C	G	RBP3	c.1141G>C	NM_002900.3	NP_002891.1:p.(Glu381Gln)	NC_000010.10:g.48389737C>G	VUS	1 lab	edc14509b9
12:133234465 POLE CAA>C	12	133234465	133234468	CAA	C	POLE	c.3365_3366del	NM_006231.4	NP_006222.2:p.(Phe1122Ter)	NC_000012.11:g.133234467_133234468del	VUS	1 lab	edc73336f6
9:137702118 COL5A1 G>A	9	137702118	137702118	G	A	COL5A1	c.3492G>A	NM_000093.5	NP_000084.3:p.(Pro1164=)	NC_000009.11:g.137702118G>A	(Likely) benign	1 lab	edc778c8c5
19:11213390 LDLR C>T	19	11213390	11213390	C	T	LDLR	c.241C>T	NM_000527.5	NP_000518.1:p.(Arg81Cys)	NC_000019.9:g.11213390C>T	(Likely) pathogenic	1 lab	edcac4cf72
14:64408748 SYNE2 C>T	14	64408748	64408748	C	T	SYNE2	c.316-21C>T	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64408748C>T	(Likely) benign	1 lab	edd2b17c2d
17:61561767 ACE GC>G	17	61561767	61561770	GC	G	ACE	c.1789del	NM_000789.4	NP_000780.1:p.(Gln597SerfsTer44)	NC_000017.10:g.61561770del	(Likely) pathogenic	1 lab	edd319c3d1
9:111674605 ELP1 C>T	9	111674605	111674605	C	T	ELP1	c.1128G>A	NM_003640.5	NP_003631.2:p.(Thr376=)	NC_000009.11:g.111674605C>T	(Likely) benign	1 lab	ede1906f5e
15:43075787 TTBK2 T>C	15	43075787	43075787	T	C	TTBK2	c.1027A>G	NM_173500.4	NP_775771.3:p.(Thr343Ala)	NC_000015.9:g.43075787T>C	VUS	1 lab	ede1b9f1d6
16:919041 LMF1 C>T	16	919041	919041	C	T	LMF1	c.1432G>A	NM_022773.4	NP_073610.2:p.(Asp478Asn)	NC_000016.9:g.919041C>T	(Likely) benign	1 lab	ede4ec3e34
17:63115324 MISSING A>Alt too long to show for this DUP	17	63115324	63874866	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.63115325_63874866dup	VUS	1 lab	eebd918415
2:179436897 TTN C>T	2	179436897	179436897	C	T	TTN	c.73962G>A	NM_001267550.2	NP_001254479.2:p.(Glu24654=)	NC_000002.11:g.179436897C>T	(Likely) benign	1 lab	ede9840ee2
8:65528705 CYP7B1 AT>A	8	65528705	65528712	AT	A	CYP7B1	c.392del	NM_004820.5	NP_004811.1:p.(Asn131IlefsTer4)	NC_000008.10:g.65528712del	(Likely) pathogenic	1 lab	edf41334c5
17:40717737 COASY CAG>C	17	40717737	40717741	CAG	C	COASY	c.1549_1550del	NM_025233.7	NP_079509.5:p.(Ser517ProfsTer61)	NC_000017.10:g.40717740_40717741del	VUS	1 lab	edf593d35f
14:73453558 MISSING A>Alt too long to show for this DUP	14	73453558	73550361	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.73453559_73550361dup	VUS	1 lab	edf9bfce4f
19:17025595 CPAMD8 C>T	19	17025595	17025595	C	T	CPAMD8	c.3658G>A	NM_015692.5	NP_056507.3:p.(Ala1220Thr)	NC_000019.9:g.17025595C>T	(Likely) benign	1 lab	edfdbd288b
9:19480277 MISSING Ref too long to show for this DEL>T	9	19480277	19511583	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.19480278_19511583del	VUS	1 lab	ee00a2032a
2:237215434 MISSING C>Alt too long to show for this DUP	2	237215434	237258836	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.237215435_237258836dup	VUS	1 lab	ee01a2bc90
10:50732430 ERCC6 G>A	10	50732430	50732430	G	A	ERCC6	c.1046C>T	NM_000124.4	NP_000115.1:p.(Pro349Leu)	NC_000010.10:g.50732430G>A	(Likely) benign	1 lab	ee076729e3
19:52725372 PPP2R1A G>A	19	52725372	52725372	G	A	PPP2R1A	c.1002G>A	NM_001363656.2	NP_001350585.1:p.(Gly334=)	NC_000019.9:g.52725372G>A	(Likely) benign	1 lab	ee0e7cdfec
2:15374803 NBAS T>C	2	15374803	15374803	T	C	NBAS	c.6012A>G	NM_015909.4	NP_056993.2:p.(Glu2004=)	NC_000002.11:g.15374803T>C	(Likely) benign	1 lab	ee0f37e63b
17:10304704 MYH8 T>C	17	10304704	10304704	T	C	MYH8	c.2996A>G	NM_002472.3	NP_002463.2:p.(Lys999Arg)	NC_000017.10:g.10304704T>C	VUS	1 lab	ee10a933a6
3:195510198 MUC4 G>T	3	195510198	195510198	G	T	MUC4	c.8253C>A	NM_018406.7	NP_060876.5:p.(Thr2751=)	NC_000003.11:g.195510198G>T	(Likely) benign	1 lab	ee1725bba0
12:57963020 KIF5A G>T	12	57963020	57963020	G	T	KIF5A	c.820-19G>T	NM_004984.4	NP_004975.2:p.?	NC_000012.11:g.57963020G>T	(Likely) benign	1 lab	ee9970a947
1:10364418 KIF1B C>T	1	10364418	10364418	C	T	KIF1B	c.3175C>T	NM_183416.4	NP_904325.2:p.(Pro1059Ser)	NC_000001.10:g.10364418C>T	VUS	1 lab	ee1e5e10cc
9:107560822 ABCA1 G>A	9	107560822	107560822	G	A	ABCA1	c.5001C>T	NM_005502.4	NP_005493.2:p.(Phe1667=)	NC_000009.11:g.107560822G>A	(Likely) benign	1 lab	ee20e7b9a3
8:1905728 ARHGEF10 G>A	8	1905728	1905728	G	A	ARHGEF10	c.*299G>A	NM_014629.4	NP_055444.2:p.?	NC_000008.10:g.1905728G>A	(Likely) benign	1 lab	ee22f55b49
5:82818084 VCAN C>T	5	82818084	82818084	C	T	VCAN	c.3959C>T	NM_004385.5	NP_004376.2:p.(Pro1320Leu)	NC_000005.9:g.82818084C>T	VUS	1 lab	ee2e2685ec
X:70444060 GJB1 G>A	X	70444060	70444060	G	A	GJB1	c.503G>A	NM_000166.6	NP_000157.1:p.(Cys168Tyr)	NC_000023.10:g.70444060G>A	(Likely) pathogenic	1 lab	ee30758666
4:8847867 HMX1 C>T	4	8847867	8847867	C	T	HMX1	c.*5G>A	NM_001306142.2	NP_001293071.1:p.?	NC_000004.11:g.8847867C>T	(Likely) benign	1 lab	ee33ee08c9
9:107646289 ABCA1 C>T	9	107646289	107646289	C	T	ABCA1	c.302+419G>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107646289C>T	(Likely) benign	1 lab	ee34236a0e
6:7583549 DSP C>T	6	7583549	7583549	C	T	DSP	c.6054C>T	NM_004415.4	NP_004406.2:p.(Ile2018=)	NC_000006.11:g.7583549C>T	(Likely) benign	1 lab	ee395381ac
2:44079825 ABCG8 G>T	2	44079825	44079825	G	T	ABCG8	c.782G>T	NM_022437.3	NP_071882.1:p.(Gly261Val)	NC_000002.11:g.44079825G>T	(Likely) pathogenic	1 lab	ee3c3865fa
14:81610228 TSHR G>A	14	81610228	81610228	G	A	TSHR	c.1826G>A	NM_000369.5	NP_000360.2:p.(Arg609Gln)	NC_000014.8:g.81610228G>A	(Likely) pathogenic	1 lab	ee43e5ba63
16:2506837 CCNF C>G	16	2506837	2506837	C	G	CCNF	c.2177C>G	NM_001761.3	NP_001752.2:p.(Ser726Ter)	NC_000016.9:g.2506837C>G	VUS	1 lab	ee4c851218
6:7580603 DSP C>T	6	7580603	7580603	C	T	DSP	c.4180C>T	NM_004415.4	NP_004406.2:p.(Gln1394Ter)	NC_000006.11:g.7580603C>T	(Likely) pathogenic	1 lab	ee4d60a918
5:127712530 FBN2 T>C	5	127712530	127712530	T	C	FBN2	c.1866A>G	NM_001999.4	NP_001990.2:p.(Thr622=)	NC_000005.9:g.127712530T>C	(Likely) benign	1 lab	ee5191548f
5:127624575 FBN2 G>C	5	127624575	127624575	G	C	FBN2	c.6637+244C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127624575G>C	(Likely) benign	1 lab	ee5218c769
8:24812971 NEFL C>G	8	24812971	24812971	C	G	NEFL	c.1044+15G>C	NM_006158.5	NP_006149.2:p.?	NC_000008.10:g.24812971C>G	(Likely) benign	1 lab	ee554aa901
17:39925844 JUP G>C	17	39925844	39925844	G	C	JUP	c.294C>G	NM_001352773.2	NP_001339702.1:p.(Ser98Arg)	NC_000017.10:g.39925844G>C	VUS	1 lab	ee577997cf
19:11200105 LDLR C>T	19	11200105	11200105	C	T	LDLR				NC_000019.9:g.11200105C>T	(Likely) pathogenic	1 lab	ee6715a7a2
16:72142704 DHX38 C>T	16	72142704	72142704	C	T	DHX38	c.3261C>T	NM_014003.4	NP_054722.2:p.(Ile1087=)	NC_000016.9:g.72142704C>T	(Likely) benign	1 lab	ee6ab23075
8:119122886 EXT1 T>C	8	119122886	119122886	T	C	EXT1	c.400A>G	NM_000127.3	NP_000118.2:p.(Ile134Val)	NC_000008.10:g.119122886T>C	(Likely) benign	1 lab	ee6bfdcd31
1:68905294 RPE65 G>C	1	68905294	68905294	G	C	RPE65	c.675C>G	NM_000329.3	NP_000320.1:p.(Ile225Met)	NC_000001.10:g.68905294G>C	(Likely) benign	1 lab	ee6c1e314c
X:25031776 ARX TGCC>T	X	25031776	25031808	TGCC	T	ARX	c.333_335del	NM_139058.3	NP_620689.1:p.(Ala115del)	NC_000023.10:g.25031806_25031808del	(Likely) benign	1 lab	ee6c694e6a
9:107558471 ABCA1 T>C	9	107558471	107558471	T	C	ABCA1	c.5245A>G	NM_005502.4	NP_005493.2:p.(Ile1749Val)	NC_000009.11:g.107558471T>C	(Likely) benign	1 lab	ee6e577542
X:55172687 VCF2 T>C	X	55172687	55172687	T	C	VCF2	c.175A>G	NM_001166703.2	NP_001160175.1:p.(Ser59Gly)	NC_000023.10:g.55172687T>C	(Likely) benign	1 lab	ee702cfccb
11:47786926 FNBP4 A>AAAAAG	11	47786926	47786970	A	AAAAAG	FNBP4	c.221-17_221-13dup	NM_015308.5	NP_056123.2:p.?	NC_000011.9:g.47786966_47786970dup	(Likely) benign	1 lab	ee70f561f3
2:179410263 TTN G>A	2	179410263	179410263	G	A	TTN	c.95574C>T	NM_001267550.2	NP_001254479.2:p.(Asn31858=)	NC_000002.11:g.179410263G>A	(Likely) benign	1 lab	ee711271c4
19:11213467 LDLR G>T	19	11213467	11213467	G	T	LDLR	c.313+5G>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213467G>T	(Likely) pathogenic	1 lab	ee752402c2
14:23866274 MYH6 G>A	14	23866274	23866274	G	A	MYH6	c.2066C>T	NM_002471.4	NP_002462.2:p.(Pro689Leu)	NC_000014.8:g.23866274G>A	VUS	1 lab	ee80f1fd54
14:102476609 DYNC1H1 C>T	14	102476609	102476609	C	T	DYNC1H1	c.6222-4C>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102476609C>T	(Likely) benign	1 lab	ee969f806d
11:44219444 EXT2 C>T	11	44219444	44219444	C	T	EXT2	c.1470C>T	NM_000401.3	NP_000392.3:p.(Thr490=)	NC_000011.9:g.44219444C>T	(Likely) benign	1 lab	ee81d64985
12:57892301 MARS1 C>A	12	57892301	57892301	C	A	MARS1	c.986C>A	NM_004990.4	NP_004981.2:p.(Pro329His)	NC_000012.11:g.57892301C>A	VUS	1 lab	ee823981c7
2:179596826 TTN T>A	2	179596826	179596826	T	A	TTN	c.13138A>T	NM_133378.4	NP_596869.4:p.(Ser4380Cys)	NC_000002.11:g.179596826T>A	VUS	1 lab	ee877212bd
14:76186990 TTLL5 A>G	14	76186990	76186990	A	G	TTLL5	c.986A>G	NM_015072.5	NP_055887.3:p.(Glu329Gly)	NC_000014.8:g.76186990A>G	VUS	1 lab	ee877798f0
17:39925940 JUP T>C	17	39925940	39925940	T	C	JUP	c.209-11A>G	NM_001352773.2	NP_001339702.1:p.?	NC_000017.10:g.39925940T>C	(Likely) benign	1 lab	ee88870162
12:110230249 TRPV4 G>A	12	110230249	110230249	G	A	TRPV4	c.1825-15C>T	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110230249G>A	(Likely) benign	1 lab	ee89762c3d
19:45412132 APOE C>A	19	45412132	45412132	C	A	APOE	c.657C>A	NM_001302688.2	NP_001289617.1:p.(Ser219Arg)	NC_000019.9:g.45412132C>A	VUS	1 lab	ee898c341a
16:57015140 CETP A>G	16	57015140	57015140	A	G	CETP	c.1214+3A>G	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57015140A>G	(Likely) pathogenic	1 lab	ee9102c8d5
1:236914784 ACTN2 G>A	1	236914784	236914784	G	A	ACTN2	c.1047G>A	NM_001278344.2	NP_001265273.1:p.(Ala349=)	NC_000001.10:g.236914784G>A	(Likely) benign	1 lab	ee9136d107
1:161277121 MPZ G>C	1	161277121	161277121	G	C	MPZ	c.161C>G	NM_000530.8	NP_000521.2:p.(Ser54Cys)	NC_000001.10:g.161277121G>C	(Likely) pathogenic	1 lab	ee9c1b6c22
8:134030201 TG G>A	8	134030201	134030201	G	A	TG	c.6741G>A	NM_003235.5	NP_003226.4:p.(Glu2247=)	NC_000008.10:g.134030201G>A	(Likely) benign	1 lab	eea16451c1
11:65307108 LTBP3 A>G	11	65307108	65307108	A	G	LTBP3	c.3548-9T>C	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65307108A>G	(Likely) benign	1 lab	eea858ceec
2:21245779 APOB G>A	2	21245779	21245779	G	A	APOB	c.2740C>T	NM_000384.3	NP_000375.3:p.(His914Tyr)	NC_000002.11:g.21245779G>A	(Likely) benign	1 lab	eeaaa4040d
11:117222647 CEP164 GA>G	11	117222647	117222658	GA	G	CEP164	c.347del	NM_014956.5	NP_055771.4:p.(Lys116ArgfsTer22)	NC_000011.9:g.117222658del	(Likely) benign	1 lab	eeb243478c
12:33049233 PKP2 T>C	12	33049233	33049233	T	C	PKP2	c.223+210A>G	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.33049233T>C	(Likely) benign	1 lab	eeb3227592
2:179395883 TTN A>G	2	179395883	179395883	A	G	TTN	c.105459T>C	NM_001267550.2	NP_001254479.2:p.(Asp35153=)	NC_000002.11:g.179395883A>G	(Likely) benign	1 lab	eeb7a46da0
18:34289285 FHOD3 G>T	18	34289285	34289285	G	T	FHOD3	c.2464G>T	NM_001281740.3	NP_001268669.1:p.(Val822Phe)	NC_000018.9:g.34289285G>T	(Likely) benign	1 lab	eebd298859
7:103194245 RELN A>C	7	103194245	103194245	A	C	RELN	c.5831T>G	NM_005045.4	NP_005036.2:p.(Phe1944Cys)	NC_000007.13:g.103194245A>C	(Likely) benign	1 lab	eec9f9bee8
7:92765131 SAMD9L C>G	7	92765131	92765131	C	G	SAMD9L	c.154G>C	NM_152703.5	NP_689916.2:p.(Glu52Gln)	NC_000007.13:g.92765131C>G	VUS	1 lab	ef0762acd8
19:55665590 TNNI3 G>A	19	55665590	55665590	G	A	TNNI3	c.373-16C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55665590G>A	(Likely) benign	1 lab	eecafc35bf
6:7564038 DSP C>T	6	7564038	7564038	C	T	DSP	c.777+19C>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7564038C>T	(Likely) benign	1 lab	eecfdedab8
19:11213451 LDLR A>G	19	11213451	11213451	A	G	LDLR	c.302A>G	NM_000527.5	NP_000518.1:p.(Glu101Gly)	NC_000019.9:g.11213451A>G	(Likely) pathogenic	1 lab	eed41c158a
14:64066373 WDR89 G>A	14	64066373	64066373	G	A	WDR89	c.288C>T	NM_001258272.2	NP_001245201.1:p.(Cys96=)	NC_000014.8:g.64066373G>A	(Likely) benign	1 lab	eed83f25ea
11:116703570 APOC3 G>A	11	116703570	116703570	G	A	APOC3	c.270G>A	NM_000040.3	NP_000031.1:p.(Glu90=)	NC_000011.9:g.116703570G>A	VUS	1 lab	eedbc19940
11:17449929 ABCC8 C>T	11	17449929	17449929	C	T	ABCC8	c.1947G>A	NM_001287174.2	NP_001274103.1:p.(Lys649=)	NC_000011.9:g.17449929C>T	(Likely) benign	1 lab	eee161b5df
22:33253359 TIMP3 C>T	22	33253359	33253359	C	T	TIMP3	c.316+12C>T	NM_000362.5	NP_000353.1:p.?	NC_000022.10:g.33253359C>T	(Likely) benign	1 lab	eee4f477f3
11:76831748 CAPN5 G>A	11	76831748	76831748	G	A	CAPN5	c.1291-11G>A	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76831748G>A	(Likely) benign	1 lab	eee601a303
1:21902347 ALPL C>T	1	21902347	21902347	C	T	ALPL	c.1119C>T	NM_000478.6	NP_000469.3:p.(Thr373=)	NC_000001.10:g.21902347C>T	(Likely) benign	1 lab	eee994f791
20:4680094 PRNP CCATGGTGGTGGCTGGGGACAGCCT>C	20	4680094	4680135	CCATGGTGGTGGCTGGGGACAGCCT	C	PRNP	c.246_269del	NM_001080123.3	NP_001073592.1:p.(Pro84_Gln91del)	NC_000020.10:g.4680112_4680135del	(Likely) benign	1 lab	eeea391661
2:21247983 APOB C>T	2	21247983	21247983	C	T	APOB	c.2258G>A	NM_000384.3	NP_000375.3:p.(Gly753Glu)	NC_000002.11:g.21247983C>T	(Likely) benign	1 lab	eeee27725e
6:8062796 MISSING C>Alt too long to show for this DUP	6	8062796	8110096	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.8062798_8110096dup	(Likely) pathogenic	1 lab	eeeeb164c3
1:19565307 EMC1 C>T	1	19565307	19565307	C	T	EMC1	c.1071G>A	NM_015047.3	NP_055862.1:p.(Ser357=)	NC_000001.10:g.19565307C>T	(Likely) benign	1 lab	eeef433ead
1:100573381 SASS6 T>C	1	100573381	100573381	T	C	SASS6	c.1041A>G	NM_194292.3	NP_919268.1:p.(Thr347=)	NC_000001.10:g.100573381T>C	(Likely) benign	1 lab	eef84a6c3b
22:51169601 SHANK3 G>A	22	51169601	51169601	G	A	SHANK3	c.5282G>A	NM_001372044.2	NP_001358973.1:p.(Arg1761His)	NC_000022.10:g.51169601G>A	VUS	1 lab	eef910200a
2:21230122 APOB C>T	2	21230122	21230122	C	T	APOB	c.9618G>A	NM_000384.3	NP_000375.3:p.(Arg3206=)	NC_000002.11:g.21230122C>T	(Likely) benign	1 lab	eef99f719e
5:82835860 VCAN G>T	5	82835860	82835860	G	T	VCAN	c.7038G>T	NM_004385.5	NP_004376.2:p.(Val2346=)	NC_000005.9:g.82835860G>T	(Likely) benign	1 lab	eefbd4d11e
15:85403104 ALPK3 G>A	15	85403104	85403104	G	A	ALPK3	c.4063G>A	NM_020778.5	NP_065829.4:p.(Ala1355Thr)	NC_000015.9:g.85403104G>A	(Likely) benign	1 lab	eefc91f31d
11:56143424 OR8U1 A>ACGGC	11	56143424	56143425	A	ACGGC	OR8U1	c.325_326insCGGC	NM_001005204.1	NP_001005204.1:p.(Ile109ThrfsTer14)	NC_000011.9:g.56143424_56143425insCGGC	(Likely) benign	1 lab	ef03f09c32
2:108608612 SLC5A7 G>A	2	108608612	108608612	G	A	SLC5A7	c.229G>A	NM_021815.5	NP_068587.1:p.(Val77Ile)	NC_000002.11:g.108608612G>A	VUS	1 lab	ef048d868b
14:105178851 INF2 C>T	14	105178851	105178851	C	T	INF2	c.2571C>T	NM_022489.4	NP_071934.3:p.(Ser857=)	NC_000014.8:g.105178851C>T	(Likely) benign	1 lab	ef09e456ff
12:109926873 UBE3B G>Alt too long to show for this DUP	12	109926873	109948541	G	Alt too long to show for this DUP	UBE3B	c.544+402_1856+278dup	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109926875_109948541dup	VUS	1 lab	ef0d470eaa
14:20940449 PNP A>T	14	20940449	20940449	A	T	PNP	c.12-18A>T	NM_000270.4	NP_000261.2:p.?	NC_000014.8:g.20940449A>T	(Likely) benign	1 lab	ef10e84e9d
16:15815324 MYH11 G>A	16	15815324	15815324	G	A	MYH11	c.4554C>T	NM_001040113.2	NP_001035202.1:p.(Ala1518=)	NC_000016.9:g.15815324G>A	(Likely) benign	1 lab	ef1a0f1a38
15:85400245 ALPK3 C>T	15	85400245	85400245	C	T	ALPK3	c.2276C>T	NM_020778.5	NP_065829.4:p.(Thr759Ile)	NC_000015.9:g.85400245C>T	VUS	1 lab	ef1c3ab118
19:13323515 CACNA1A A>G	19	13323515	13323515	A	G	CACNA1A	c.5998T>C	NM_023035.3	NP_075461.2:p.(Ser2000Pro)	NC_000019.9:g.13323515A>G	VUS	1 lab	ef2238afe6
12:119624885 HSPB8 G>T	12	119624885	119624885	G	T	HSPB8	c.423G>T	NM_014365.3	NP_055180.1:p.(Lys141Asn)	NC_000012.11:g.119624885G>T	(Likely) pathogenic	1 lab	ef24b56e26
16:920009 LMF1 G>T	16	920009	920009	G	T	LMF1	c.1290C>A	NM_022773.4	NP_073610.2:p.(Ser430Arg)	NC_000016.9:g.920009G>T	(Likely) benign	1 lab	ef25829976
15:73622046 HCN4 G>A	15	73622046	73622046	G	A	HCN4	c.1458C>T	NM_005477.3	NP_005468.1:p.(Pro486=)	NC_000015.9:g.73622046G>A	(Likely) benign	1 lab	ef27689f8e
8:102661693 GRHL2 T>A	8	102661693	102661693	T	A	GRHL2	c.1664T>A	NM_024915.4	NP_079191.2:p.(Leu555Ter)	NC_000008.10:g.102661693T>A	VUS	1 lab	ef27e897f4
2:179578906 TTN G>A	2	179578906	179578906	G	A	TTN	c.26483-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179578906G>A	(Likely) benign	1 lab	ef30b93194
6:110056482 FIG4 A>G	6	110056482	110056482	A	G	FIG4	c.627A>G	NM_014845.6	NP_055660.1:p.(Leu209=)	NC_000006.11:g.110056482A>G	(Likely) benign	1 lab	ef3446c1b4
2:21234946 APOB C>A	2	21234946	21234946	C	A	APOB	c.4794G>T	NM_000384.3	NP_000375.3:p.(Leu1598=)	NC_000002.11:g.21234946C>A	(Likely) benign	1 lab	ef3d1d06c7
11:71150098 DHCR7 T>G	11	71150098	71150098	T	G	DHCR7	c.658A>C	NM_001360.3	NP_001351.2:p.(Met220Leu)	NC_000011.9:g.71150098T>G	VUS	1 lab	ef4306e783
16:920853 LMF1 A>C	16	920853	920853	A	C	LMF1	c.1108T>G	NM_022773.4	NP_073610.2:p.(Ser370Ala)	NC_000016.9:g.920853A>C	VUS	1 lab	ef4e5b644b
2:179611830 TTN T>C	2	179611830	179611830	T	C	TTN	c.15297A>G	NM_133379.5	NP_596870.2:p.(Pro5099=)	NC_000002.11:g.179611830T>C	(Likely) benign	1 lab	ef538895d2
8:10467495 RP1L1 C>A	8	10467495	10467495	C	A	RP1L1	c.4113G>T	NM_178857.6	NP_849188.4:p.(Gly1371=)	NC_000008.10:g.10467495C>A	(Likely) benign	1 lab	ef55a5c583
2:179603047 TTN T>C	2	179603047	179603047	T	C	TTN	c.14133A>G	NM_001267550.2	NP_001254479.2:p.(Val4711=)	NC_000002.11:g.179603047T>C	(Likely) benign	1 lab	ef5cb355fa
6:75801119 COL12A1 T>C	6	75801119	75801119	T	C	COL12A1	c.8686-14A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75801119T>C	(Likely) benign	1 lab	ef5d62473a
15:65952673 SLC24A1 A>G	15	65952673	65952673	A	G	SLC24A1	c.*14A>G	NM_001301033.2	NP_001287962.1:p.?	NC_000015.9:g.65952673A>G	(Likely) benign	1 lab	ef5e45974f
3:53835422 CACNA1D G>A	3	53835422	53835422	G	A	CACNA1D	c.5438G>A	NM_000720.4	NP_000711.1:p.(Arg1813Gln)	NC_000003.11:g.53835422G>A	(Likely) benign	1 lab	ef60250127
5:79950567 MSH3 G>A	5	79950567	79950567	G	A	MSH3	c.21G>A	NM_002439.5	NP_002430.3:p.(Ala7=)	NC_000005.9:g.79950567G>A	(Likely) benign	1 lab	ef6329ca15
X:100658850 GLA A>T	X	100658850	100658850	A	T	GLA	c.318T>A	NM_000169.3	NP_000160.1:p.(Leu106=)	NC_000023.10:g.100658850A>T	(Likely) benign	1 lab	ef655d516a
5:133944134 SAR1B G>C	5	133944134	133944134	G	C	SAR1B	c.408C>G	NM_001033503.3	NP_001028675.1:p.(Ile136Met)	NC_000005.9:g.133944134G>C	VUS	1 lab	ef6b8cba9f
1:216039721 USH2A G>A	1	216039721	216039721	G	A	USH2A	c.8845+628C>T	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216039721G>A	(Likely) pathogenic	1 lab	ef6c29d63a
12:50503200 GPD1 A>G	12	50503200	50503200	A	G	GPD1	c.954-6A>G	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50503200A>G	VUS	1 lab	ef71cab077
1:186064612 HMCN1 A>G	1	186064612	186064612	A	G	HMCN1	c.10532A>G	NM_031935.3	NP_114141.2:p.(Glu3511Gly)	NC_000001.10:g.186064612A>G	(Likely) benign	1 lab	ef73de197b
2:21229119 APOB T>C	2	21229119	21229119	T	C	APOB	c.10621A>G	NM_000384.3	NP_000375.3:p.(Ile3541Val)	NC_000002.11:g.21229119T>C	VUS	1 lab	ef741ea516
2:21229803 APOB G>T	2	21229803	21229803	G	T	APOB	c.9937C>A	NM_000384.3	NP_000375.3:p.(Leu3313Ile)	NC_000002.11:g.21229803G>T	(Likely) benign	1 lab	ef7bb363fd
11:64521400 PYGM A>G	11	64521400	64521400	A	G	PYGM	c.926T>C	NM_001164716.1	NP_001158188.1:p.(Leu309Pro)	NC_000011.9:g.64521400A>G	(Likely) pathogenic	1 lab	ef83f154fe
9:107591247 ABCA1 TACTAATGA>T	9	107591247	107591257	TACTAATGA	T	ABCA1	c.2057_2064del	NM_005502.4	NP_005493.2:p.(Phe686Ter)	NC_000009.11:g.107591250_107591257del	(Likely) pathogenic	1 lab	ef846aa9fa
5:89930938 ADGRV1 CTG>C	5	89930938	89930942	CTG	C	ADGRV1	c.1850_1851del	NM_032119.4	NP_115495.3:p.(Val617GlyfsTer15)	NC_000005.9:g.89930941_89930942del	(Likely) pathogenic	1 lab	ef85be020c
15:48733905 FBN1 C>T	15	48733905	48733905	C	T	FBN1	c.6163+13G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48733905C>T	(Likely) benign	1 lab	ef85f3e9d1
11:7327175 SYT9 Ref too long to show for this DEL>A	11	7327175	7353114	Ref too long to show for this DEL	A	SYT9	c.497+2555_1044+17942del	NM_175733.4	NP_783860.1:p.?	NC_000011.9:g.7327176_7353114del	VUS	1 lab	ef89e35757
18:6985229 LAMA1 T>C	18	6985229	6985229	T	C	LAMA1	c.5660+7A>G	NM_005559.4	NP_005550.2:p.?	NC_000018.9:g.6985229T>C	(Likely) benign	1 lab	ef8cf87ea7
18:42643561 SETBP1 C>T	18	42643561	42643561	C	T	SETBP1	c.4689C>T	NM_015559.3	NP_056374.2:p.(Pro1563=)	NC_000018.9:g.42643561C>T	(Likely) benign	1 lab	ef8eed034d
6:7565733 DSP C>G	6	7565733	7565733	C	G	DSP	c.919C>G	NM_004415.4	NP_004406.2:p.(Gln307Glu)	NC_000006.11:g.7565733C>G	VUS	1 lab	ef918e7d41
6:100838880 SIM1 T>A	6	100838880	100838880	T	A	SIM1	c.1658A>T	NM_005068.3	NP_005059.2:p.(Gln553Leu)	NC_000006.11:g.100838880T>A	VUS	1 lab	ef94149448
2:21228379 APOB G>A	2	21228379	21228379	G	A	APOB	c.11361C>T	NM_000384.3	NP_000375.3:p.(Pro3787=)	NC_000002.11:g.21228379G>A	(Likely) benign	1 lab	ef99262b1c
9:119316907 ASTN2 Ref too long to show for this DEL>G	9	119316907	119688895	Ref too long to show for this DEL	G	ASTN2	c.1889+48592_3355+63695del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119316908_119688895del	VUS	1 lab	ef9b2e3c2c
2:113993169 PAX8 G>A	2	113993169	113993169	G	A	PAX8	c.899-10C>T	NM_003466.4	NP_003457.1:p.?	NC_000002.11:g.113993169G>A	(Likely) benign	1 lab	ef9bfd89db
2:47703620 MSH2 G>C	2	47703620	47703620	G	C	MSH2	c.2120G>C	NM_000251.3	NP_000242.1:p.(Cys707Ser)	NC_000002.11:g.47703620G>C	VUS	1 lab	ef9cba9cf3
17:29324350 RNF135 G>GT	17	29324350	29324351	G	GT	RNF135	c.834+2dup	NM_001184992.2	NP_001171921.1:p.?	NC_000017.10:g.29324351dup	VUS	1 lab	efa46cedd1
2:189904004 COL5A2 G>C	2	189904004	189904004	G	C	COL5A2	c.3919C>G	NM_000393.5	NP_000384.2:p.(Gln1307Glu)	NC_000002.11:g.189904004G>C	(Likely) benign	1 lab	efa4f5ee9e
9:107547024 ABCA1 G>A	9	107547024	107547024	G	A	ABCA1	c.6646-288C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547024G>A	(Likely) benign	1 lab	efa79a0ba0
5:180119107 MISSING T>Alt too long to show for this DUP	5	180119107	180218522	T	Alt too long to show for this DUP	MISSING				NC_000005.9:g.180119112_180218522dup	VUS	1 lab	efa8d3dfbd
19:17985454 SLC5A5 G>A	19	17985454	17985454	G	A	SLC5A5	c.476-19G>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17985454G>A	(Likely) benign	1 lab	efaedcfe57
16:56385401 GNAO1 GAGA>G	16	56385401	56385407	GAGA	G	GNAO1	c.833_835del	NM_020988.3	NP_066268.1:p.(Lys278del)	NC_000016.9:g.56385405_56385407del	(Likely) pathogenic	1 lab	efb29662d1
3:38830459 SCN10A G>A	3	38830459	38830459	G	A	SCN10A	c.458C>T	NM_006514.4	NP_006505.4:p.(Pro153Leu)	NC_000003.11:g.38830459G>A	(Likely) benign	1 lab	efb52378fb
16:971343 LMF1 T>C	16	971343	971343	T	C	LMF1	c.116-10264A>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.971343T>C	(Likely) benign	1 lab	efc6e71919
8:100454850 VPS13B C>T	8	100454850	100454850	C	T	VPS13B	c.3432C>T	NM_017890.5	NP_060360.3:p.(Pro1144=)	NC_000008.10:g.100454850C>T	(Likely) benign	1 lab	efc729d942
14:75022271 LTBP2 G>T	14	75022271	75022271	G	T	LTBP2	c.956C>A	NM_000428.3	NP_000419.1:p.(Pro319Gln)	NC_000014.8:g.75022271G>T	(Likely) benign	1 lab	efca116f9c
2:98158402 ANKRD36B T>C	2	98158402	98158402	T	C	ANKRD36B	c.1857A>G	NM_025190.4	NP_079466.3:p.(Glu619=)	NC_000002.11:g.98158402T>C	(Likely) benign	1 lab	efcb39b19d
5:178552185 ADAMTS2 C>T	5	178552185	178552185	C	T	ADAMTS2	c.2751-4G>A	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178552185C>T	(Likely) benign	1 lab	efcf8497ea
5:141059158 ARAP3 C>G	5	141059158	141059158	C	G	ARAP3	c.652G>C	NM_022481.6	NP_071926.4:p.(Asp218His)	NC_000005.9:g.141059158C>G	(Likely) benign	1 lab	efd30644eb
1:25880487 LDLRAP1 A>T	1	25880487	25880487	A	T	LDLRAP1	c.163A>T	NM_015627.3	NP_056442.2:p.(Met55Leu)	NC_000001.10:g.25880487A>T	VUS	1 lab	efd3335a0f
1:207086300 MISSING Ref too long to show for this DEL>G	1	207086300	213209142	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.207086301_213209142del	(Likely) pathogenic	1 lab	efd3c91820
2:108618514 SLC5A7 C>T	2	108618514	108618514	C	T	SLC5A7	c.741+18C>T	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108618514C>T	(Likely) benign	1 lab	efd643450a
10:90701076 ACTA2 C>T	10	90701076	90701076	C	T	ACTA2	c.526G>A	NM_001141945.2	NP_001135417.1:p.(Ala176Thr)	NC_000010.10:g.90701076C>T	(Likely) pathogenic	1 lab	efd70f7b22
10:22608868 COMMD3 G>C	10	22608868	22608868	G	C	COMMD3	c.529G>C	NM_012071.4	NP_036203.1:p.(Asp177His)	NC_000010.10:g.22608868G>C	VUS	1 lab	efdb1bc82b
10:73765489 CHST3 C>T	10	73765489	73765489	C	T	CHST3	c.-107-5C>T	NM_004273.5	NP_004264.2:p.?	NC_000010.10:g.73765489C>T	(Likely) benign	1 lab	efddc2a043
11:65310402 LTBP3 AGGATGGATGGATGGAT>A	11	65310402	65310446	AGGATGGATGGATGGAT	A	LTBP3	c.2596+158_2596+173del	NM_001130144.3	NP_001123616.1:p.?	NC_000011.9:g.65310431_65310446del	(Likely) benign	1 lab	efe04500ab
X:70356131 MED12 G>A	X	70356131	70356131	G	A	MED12	c.5026G>A	NM_005120.3	NP_005111.2:p.(Gly1676Ser)	NC_000023.10:g.70356131G>A	VUS	1 lab	efe34f7bb3
6:35478626 TULP1 C>G	6	35478626	35478626	C	G	TULP1	c.499+12G>C	NM_003322.6	NP_003313.3:p.?	NC_000006.11:g.35478626C>G	(Likely) benign	1 lab	efe52362ee
19:11200258 LDLR G>A	19	11200258	11200258	G	A	LDLR	c.34G>A	NM_000527.5	NP_000518.1:p.(Val12Ile)	NC_000019.9:g.11200258G>A	VUS	1 lab	efe8388975
16:3640269 SLX4 T>C	16	3640269	3640269	T	C	SLX4	c.3370A>G	NM_032444.4	NP_115820.2:p.(Ile1124Val)	NC_000016.9:g.3640269T>C	(Likely) benign	1 lab	efea1bc49f
1:12855740 PRAMEF1 C>A	1	12855740	12855740	C	A	PRAMEF1	c.1020C>A	NM_023013.4	NP_075389.2:p.(Leu340=)	NC_000001.10:g.12855740C>A	(Likely) benign	1 lab	efea46e031
3:139087101 COPB2 G>C	3	139087101	139087101	G	C	COPB2	c.1431C>G	NM_004766.3	NP_004757.1:p.(Val477=)	NC_000003.11:g.139087101G>C	(Likely) benign	1 lab	efebd61b10
7:17367479 AHR A>G	7	17367479	17367479	A	G	AHR	c.450+7A>G	NM_001621.5	NP_001612.1:p.?	NC_000007.13:g.17367479A>G	(Likely) benign	1 lab	eff03306b6
10:71103597 HK1 C>G	10	71103597	71103597	C	G	HK1	c.42C>G	NM_033500.2	NP_277035.2:p.(Leu14=)	NC_000010.10:g.71103597C>G	(Likely) benign	1 lab	eff1b97fa8
1:235596396 TBCE C>T	1	235596396	235596396	C	T	TBCE	c.796C>T	NM_001287801.2	NP_001274730.1:p.(Arg266Trp)	NC_000001.10:g.235596396C>T	(Likely) benign	1 lab	eff2c68f07
13:39598698 PROSER1 TA>T	13	39598698	39598714	TA	T	PROSER1	c.481-6del	NM_025138.5	NP_079414.3:p.?	NC_000013.10:g.39598714del	(Likely) benign	1 lab	eff4f432a1
15:58840718 LIPC G>A	15	58840718	58840718	G	A	LIPC	c.998G>A	NM_000236.3	NP_000227.2:p.(Arg333Gln)	NC_000015.9:g.58840718G>A	VUS	1 lab	eff52bcba9
3:195507591 MUC4 C>T	3	195507591	195507591	C	T	MUC4	c.10860G>A	NM_018406.7	NP_060876.5:p.(Thr3620=)	NC_000003.11:g.195507591C>T	(Likely) benign	1 lab	f000550cd9
11:17519711 USH1C C>T	11	17519711	17519711	C	T	USH1C	c.2488G>A	NM_153676.4	NP_710142.1:p.(Gly830Arg)	NC_000011.9:g.17519711C>T	(Likely) benign	1 lab	f0020fb4e9
11:116661791 APOA5 A>C	11	116661791	116661791	A	C	APOA5	c.162-8T>G	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116661791A>C	(Likely) benign	1 lab	f004607d83
22:36679014 MYH9 Ref too long to show for this DEL>A	22	36679014	36770603	Ref too long to show for this DEL	A	MYH9	c.-20+13250_5766-184del	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36679016_36770603del	VUS	1 lab	f005518b5f
2:220497686 SLC4A3 C>T	2	220497686	220497686	C	T	SLC4A3	c.1313C>T	NM_201574.3	NP_963868.3:p.(Pro438Leu)	NC_000002.11:g.220497686C>T	VUS	1 lab	f0055b7ebc
14:102500507 DYNC1H1 A>C	14	102500507	102500507	A	C	DYNC1H1	c.10608A>C	NM_001376.5	NP_001367.2:p.(Leu3536=)	NC_000014.8:g.102500507A>C	(Likely) benign	1 lab	f005755f49
2:98127859 ANKRD36B T>C	2	98127859	98127859	T	C	ANKRD36B	c.3462A>G	NM_025190.4	NP_079466.3:p.(Lys1154=)	NC_000002.11:g.98127859T>C	(Likely) benign	1 lab	f009709b73
5:95746664 PCSK1 G>A	5	95746664	95746664	G	A	PCSK1	c.909C>T	NM_000439.5	NP_000430.3:p.(Phe303=)	NC_000005.9:g.95746664G>A	(Likely) benign	1 lab	f051d0fe5d
X:71360539 NHSL2 C>T	X	71360539	71360539	C	T	NHSL2	c.3141C>T	NM_001013627.2	NP_001013649.2:p.(Ala1047=)	NC_000023.10:g.71360539C>T	(Likely) benign	1 lab	f00af6b208
8:144297668 GPIHBP1 G>A	8	144297668	144297668	G	A	GPIHBP1	c.*275G>A	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144297668G>A	(Likely) benign	1 lab	f00c8440ff
3:28399517 ZCWPW2 Ref too long to show for this DEL>T	3	28399517	28453411	Ref too long to show for this DEL	T	ZCWPW2	c.-134+8825_-13-1136del	NM_001040432.4	NP_001035522.1:p.?	NC_000003.11:g.28399519_28453411del	VUS	1 lab	f00e7f13d2
1:19549984 EMC1 AG>A	1	19549984	19549986	AG	A	EMC1	c.2281del	NM_015047.3	NP_055862.1:p.(Leu761SerfsTer102)	NC_000001.10:g.19549986del	(Likely) pathogenic	1 lab	f00fee31a8
2:44049951 ABCG5 C>T	2	44049951	44049951	C	T	ABCG5	c.1448G>A	NM_022436.3	NP_071881.1:p.(Ser483Asn)	NC_000002.11:g.44049951C>T	VUS	1 lab	f0130fc317
1:161277074 MPZ G>A	1	161277074	161277074	G	A	MPZ	c.208C>T	NM_000530.8	NP_000521.2:p.(Pro70Ser)	NC_000001.10:g.161277074G>A	(Likely) pathogenic	1 lab	f014d4e040
16:920048 LMF1 C>T	16	920048	920048	C	T	LMF1	c.852G>A	NM_001352018.2	NP_001338947.1:p.(Ala284=)	NC_000016.9:g.920048C>T	(Likely) benign	1 lab	f01abe641d
19:45452078 APOC2 A>G	19	45452078	45452078	A	G	APOC2	c.176A>G	NM_000483.5	NP_000474.2:p.(Tyr59Cys)	NC_000019.9:g.45452078A>G	VUS	1 lab	f021be12e8
3:75787015 ZNF717 C>T	3	75787015	75787015	C	T	ZNF717	c.1759G>A	NM_001128223.3	NP_001121695.1:p.(Gly587Ser)	NC_000003.11:g.75787015C>T	(Likely) benign	1 lab	f023d5c904
7:92760738 SAMD9L T>G	7	92760738	92760738	T	G	SAMD9L	c.4547A>C	NM_152703.5	NP_689916.2:p.(Asn1516Thr)	NC_000007.13:g.92760738T>G	(Likely) benign	1 lab	f026bdff25
6:87966306 ZNF292 CA>C	6	87966306	87966307	CA	C	ZNF292	c.2960del	NM_015021.3	NP_055836.1:p.(Gln987ArgfsTer19)	NC_000006.11:g.87966307del	VUS	1 lab	f0288e2ff1
3:38627472 SCN5A C>T	3	38627472	38627472	C	T	SCN5A	c.2497G>A	NM_198056.3	NP_932173.1:p.(Gly833Arg)	NC_000003.11:g.38627472C>T	VUS	1 lab	f02aec2c06
X:31526352 DMD C>T	X	31526352	31526352	C	T	DMD	c.8194-782G>A	NM_000109.4	NP_000100.3:p.?	NC_000023.10:g.31526352C>T	(Likely) benign	1 lab	f02fed929a
17:75316450 SEPTIN9 C>T	17	75316450	75316450	C	T	SEPTIN9	c.22+20C>T	NM_006640.5	NP_006631.2:p.?	NC_000017.10:g.75316450C>T	(Likely) benign	1 lab	f030165f25
4:3495019 DOK7 G>A	4	3495019	3495019	G	A	DOK7	c.1306G>A	NM_173660.5	NP_775931.3:p.(Gly436Ser)	NC_000004.11:g.3495019G>A	VUS	1 lab	f030d66c54
7:151329141 PRKAG2 C>CG	7	151329141	151329145	C	CG	PRKAG2	c.754+13dup	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151329145dup	(Likely) benign	1 lab	f03135230c
5:86665718 RASA1 G>A	5	86665718	86665718	G	A	RASA1	c.1698+1G>A	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86665718G>A	(Likely) pathogenic	1 lab	f03455efa5
17:6386992 PITPNM3 G>A	17	6386992	6386992	G	A	PITPNM3	c.432C>T	NM_031220.4	NP_112497.2:p.(Ala144=)	NC_000017.10:g.6386992G>A	(Likely) benign	1 lab	f0379be92a
16:46744709 MYLK3 A>G	16	46744709	46744709	A	G	MYLK3	c.2115-8T>C	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46744709A>G	(Likely) benign	1 lab	f03a061a02
5:1213668 SLC6A19 G>A	5	1213668	1213668	G	A	SLC6A19	c.754G>A	NM_001003841.3	NP_001003841.1:p.(Val252Ile)	NC_000005.9:g.1213668G>A	(Likely) benign	1 lab	f03e78c92a
1:13933775 PDPN C>A	1	13933775	13933775	C	A	PDPN	c.175C>A	NM_006474.5	NP_006465.4:p.(Arg59Ser)	NC_000001.10:g.13933775C>A	(Likely) benign	1 lab	f03f2e68a1
14:23899128 MYH7 G>A	14	23899128	23899128	G	A	MYH7	c.1000-6C>T	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23899128G>A	(Likely) benign	1 lab	f043fc3708
1:25893221 LDLRAP1 G>T	1	25893221	25893221	G	T	LDLRAP1	c.783-118G>T	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25893221G>T	(Likely) benign	1 lab	f0481998cc
13:32968987 BRCA2 G>T	13	32968987	32968987	G	T	BRCA2	c.9418G>T	NM_000059.4	NP_000050.3:p.(Ala3140Ser)	NC_000013.10:g.32968987G>T	VUS	1 lab	f04be0f1b4
9:139417333 NOTCH1 G>A	9	139417333	139417333	G	A	NOTCH1	c.711C>T	NM_017617.5	NP_060087.3:p.(Gly237=)	NC_000009.11:g.139417333G>A	(Likely) benign	1 lab	f050ae7467
11:47371045 MYBPC3 G>C	11	47371045	47371045	G	C	MYBPC3	c.654+280C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371045G>C	(Likely) benign	1 lab	f051d93b9a
11:47360675 MYBPC3 C>T	11	47360675	47360675	C	T	MYBPC3	c.2148+200G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360675C>T	(Likely) benign	1 lab	f0535cb66b
14:53527892 DDHD1 G>A	14	53527892	53527892	G	A	DDHD1	c.1794C>T	NM_001160148.2	NP_001153620.1:p.(His598=)	NC_000014.8:g.53527892G>A	(Likely) benign	1 lab	f054fdeb1b
13:32972321 BRCA2 T>C	13	32972321	32972321	T	C	BRCA2	c.9671T>C	NM_000059.4	NP_000050.3:p.(Ile3224Thr)	NC_000013.10:g.32972321T>C	(Likely) benign	1 lab	f05877664d
X:114880507 PLS3 G>A	X	114880507	114880507	G	A	PLS3	c.1377+1G>A	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114880507G>A	(Likely) pathogenic	1 lab	f087efbbb5
1:66102227 LEPR C>T	1	66102227	66102227	C	T	LEPR	c.3027C>T	NM_002303.6	NP_002294.2:p.(Val1009=)	NC_000001.10:g.66102227C>T	(Likely) benign	1 lab	f060fa81ca
12:1965221 CACNA2D4 C>G	12	1965221	1965221	C	G	CACNA2D4	c.2109G>C	NM_172364.5	NP_758952.4:p.(Glu703Asp)	NC_000012.11:g.1965221C>G	(Likely) benign	1 lab	f0656eb5c0
4:74274303 ALB C>T	4	74274303	74274303	C	T	ALB	c.271-8C>T	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74274303C>T	(Likely) benign	1 lab	f0660d4017
1:6528468 PLEKHG5 C>T	1	6528468	6528468	C	T	PLEKHG5	c.2635G>A	NM_001265593.1	NP_001252522.1:p.(Gly879Ser)	NC_000001.10:g.6528468C>T	(Likely) benign	1 lab	f06d220493
7:158394833 MISSING Ref too long to show for this DEL>C	7	158394833	159128663	Ref too long to show for this DEL	C	MISSING				NC_000007.13:g.158394836_159128663del	VUS	1 lab	f06f73295b
20:56227671 PMEPA1 G>A	20	56227671	56227671	G	A	PMEPA1	c.319-17C>T	NM_020182.5	NP_064567.2:p.?	NC_000020.10:g.56227671G>A	(Likely) benign	1 lab	f0703d606a
14:23866836 MYH6 G>A	14	23866836	23866836	G	A	MYH6	c.1892-14C>T	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23866836G>A	(Likely) benign	1 lab	f072028bec
18:19353565 MIB1 C>T	18	19353565	19353565	C	T	MIB1	c.532-20C>T	NM_020774.4	NP_065825.1:p.?	NC_000018.9:g.19353565C>T	(Likely) benign	1 lab	f07a572896
1:197403882 CRB1 C>A	1	197403882	197403882	C	A	CRB1	c.2817C>A	NM_001257965.2	NP_001244894.1:p.(Phe939Leu)	NC_000001.10:g.197403882C>A	VUS	1 lab	f07c833c48
20:62657376 PRPF6 C>T	20	62657376	62657376	C	T	PRPF6	c.1993C>T	NM_012469.4	NP_036601.2:p.(Leu665=)	NC_000020.10:g.62657376C>T	(Likely) benign	1 lab	f07d6dbc53
14:102469030 DYNC1H1 C>A	14	102469030	102469030	C	A	DYNC1H1	c.4699C>A	NM_001376.5	NP_001367.2:p.(Arg1567=)	NC_000014.8:g.102469030C>A	(Likely) benign	1 lab	f07fdc7e00
12:21355637 SLCO1B1 A>G	12	21355637	21355637	A	G	SLCO1B1	c.1331+17A>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21355637A>G	(Likely) benign	1 lab	f084889080
2:179588968 TTN A>G	2	179588968	179588968	A	G	TTN	c.21115+19T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179588968A>G	(Likely) benign	1 lab	f08a5ff366
1:201036101 CACNA1S G>T	1	201036101	201036101	G	T	CACNA1S	c.2571C>A	NM_000069.3	NP_000060.2:p.(Phe857Leu)	NC_000001.10:g.201036101G>T	VUS	1 lab	f08fa10f67
16:67976973 LCAT C>G	16	67976973	67976973	C	G	LCAT	c.297G>C	NM_000229.2	NP_000220.1:p.(Trp99Cys)	NC_000016.9:g.67976973C>G	(Likely) pathogenic	1 lab	f08fae8e8c
5:178415974 GRM6 C>T	5	178415974	178415974	C	T	GRM6	c.1316G>A	NM_000843.4	NP_000834.2:p.(Arg439Gln)	NC_000005.9:g.178415974C>T	(Likely) benign	1 lab	f0932192eb
16:56997044 CETP G>A	16	56997044	56997044	G	A	CETP	c.233+8G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56997044G>A	(Likely) benign	1 lab	f093c91bfe
16:16278806 ABCC6 C>G	16	16278806	16278806	C	G	ABCC6	c.1943+10G>C	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16278806C>G	(Likely) benign	1 lab	f0953ab980
3:87289935 CHMP2B CA>C	3	87289935	87289936	CA	C	CHMP2B	c.122del	NM_014043.4	NP_054762.2:p.(Gln41ArgfsTer4)	NC_000003.11:g.87289936del	VUS	1 lab	f09b3e430b
11:47358066 MYBPC3 T>C	11	47358066	47358066	T	C	MYBPC3	c.2603-504A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358066T>C	(Likely) benign	1 lab	f09bafdbf0
4:39707926 MISSING C>Alt too long to show for this DUP	4	39707926	39883628	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.39707929_39883628dup	VUS	1 lab	f0a726b3a7
16:28837078 ATXN2L C>T	16	28837078	28837078	C	T	ATXN2L	c.394-13C>T	NM_148414.3	NP_680780.1:p.?	NC_000016.9:g.28837078C>T	(Likely) benign	1 lab	f0af3019e2
X:585117 MISSING C>Alt too long to show for this DUP	X	585117	847433	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.585119_847433dup	(Likely) pathogenic	1 lab	f0b15f0a0b
1:201342326 TNNT2 T>C	1	201342326	201342326	T	C	TNNT2	c.41+16A>G	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201342326T>C	(Likely) benign	1 lab	f0b299c219
7:138555922 KIAA1549 C>G	7	138555922	138555922	C	G	KIAA1549	c.4532G>C	NM_001164665.2	NP_001158137.1:p.(Ser1511Thr)	NC_000007.13:g.138555922C>G	(Likely) benign	1 lab	f0b41458ff
11:47361373 MYBPC3 G>C	11	47361373	47361373	G	C	MYBPC3	c.1928-32C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361373G>C	(Likely) benign	1 lab	f0b6ff261f
9:107556978 ABCA1 G>T	9	107556978	107556978	G	T	ABCA1	c.5383-187C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107556978G>T	(Likely) benign	1 lab	f0b9830caa
2:21231445 APOB T>C	2	21231445	21231445	T	C	APOB	c.8295A>G	NM_000384.3	NP_000375.3:p.(Gln2765=)	NC_000002.11:g.21231445T>C	(Likely) benign	1 lab	f0c131a0e1
3:49084619 QRICH1 GT>G	3	49084619	49084621	GT	G	QRICH1	c.1398del	NM_017730.4	NP_060200.2:p.(Glu466AspfsTer8)	NC_000003.11:g.49084621del	(Likely) pathogenic	1 lab	f0ca48b57e
4:9212494 USP17L10 C>G	4	9212494	9212494	C	G	USP17L10	c.112C>G	NM_001256852.1	NP_001243781.1:p.(Pro38Ala)	NC_000004.11:g.9212494C>G	(Likely) benign	1 lab	f0d0b5bfda
15:35084594 ACTC1 GAC>G	15	35084594	35084604	GAC	G	ACTC1	c.616+13_616+14del	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35084603_35084604del	(Likely) benign	1 lab	f0d70b77c9
7:45123780 NACAD A>G	7	45123780	45123780	A	G	NACAD	c.1999T>C	NM_001146334.2	NP_001139806.1:p.(Ser667Pro)	NC_000007.13:g.45123780A>G	(Likely) benign	1 lab	f0d798efcb
11:116661000 APOA5 C>A	11	116661000	116661000	C	A	APOA5	c.945G>T	NM_052968.5	NP_443200.2:p.(Ala315=)	NC_000011.9:g.116661000C>A	(Likely) benign	1 lab	f0d9227a18
3:171404481 PLD1 G>T	3	171404481	171404481	G	T	PLD1	c.1861C>A	NM_002662.5	NP_002653.1:p.(His621Asn)	NC_000003.11:g.171404481G>T	(Likely) benign	1 lab	f0dc585888
15:44943796 SPG11 A>AT	15	44943796	44943797	A	AT	SPG11	c.1348dup	NM_025137.4	NP_079413.3:p.(Ile450AsnfsTer26)	NC_000015.9:g.44943797dup	(Likely) pathogenic	1 lab	f0e0b0e556
17:45297340 MYL4 C>T	17	45297340	45297340	C	T	MYL4	c.234C>T	NM_001002841.2	NP_001002841.1:p.(Cys78=)	NC_000017.10:g.45297340C>T	(Likely) benign	1 lab	f0e0c9204e
22:51127893 MISSING Ref too long to show for this DEL>A	22	51127893	51197838	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.51127897_51197838del	(Likely) pathogenic	1 lab	f0e9aa5ce7
7:99689283 COPS6 C>T	7	99689283	99689283	C	T	COPS6	c.855C>T	NM_006833.5	NP_006824.2:p.(Asp285=)	NC_000007.13:g.99689283C>T	(Likely) benign	1 lab	f0f35a4dc7
8:17927280 ASAH1 G>T	8	17927280	17927280	G	T	ASAH1	c.303+21C>A	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17927280G>T	(Likely) benign	1 lab	f0f541a7ca
12:50500719 GPD1 C>T	12	50500719	50500719	C	T	GPD1	c.612+19C>T	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50500719C>T	(Likely) benign	1 lab	f0f94f1c39
2:220286087 DES G>A	2	220286087	220286087	G	A	DES	c.1049G>A	NM_001927.4	NP_001918.3:p.(Arg350Gln)	NC_000002.11:g.220286087G>A	VUS	1 lab	f0f9968ad1
16:8895717 PMM2 T>C	16	8895717	8895717	T	C	PMM2	c.128T>C	NM_000303.3	NP_000294.1:p.(Val43Ala)	NC_000016.9:g.8895717T>C	VUS	1 lab	f25831cd44
6:16143363 MYLIP C>T	6	16143363	16143363	C	T	MYLIP	c.577C>T	NM_013262.4	NP_037394.2:p.(Arg193Trp)	NC_000006.11:g.16143363C>T	(Likely) benign	1 lab	f0fce70ca3
9:140724996 MISSING T>Alt too long to show for this DUP	9	140724996	141038308	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.140724997_141038308dup	(Likely) pathogenic	1 lab	f0fe595ce0
19:57326752 PEG3 C>T	19	57326752	57326752	C	T	PEG3	c.3058G>A	NM_006210.3	NP_006201.1:p.(Ala1020Thr)	NC_000019.9:g.57326752C>T	(Likely) benign	1 lab	f0fec0797b
5:148406653 SH3TC2 T>A	5	148406653	148406653	T	A	SH3TC2	c.2642A>T	NM_024577.4	NP_078853.2:p.(Asn881Ile)	NC_000005.9:g.148406653T>A	(Likely) pathogenic	1 lab	f100e50448
7:33192299 BBS9 TA>T	7	33192299	33192302	TA	T	BBS9	c.113-11del	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33192302del	(Likely) benign	1 lab	f1013fd4a9
12:123186795 HCAR2 T>C	12	123186795	123186795	T	C	HCAR2	c.1036A>G	NM_177551.4	NP_808219.1:p.(Met346Val)	NC_000012.11:g.123186795T>C	(Likely) benign	1 lab	f103deafd3
12:8990939 A2ML1 A>G	12	8990939	8990939	A	G	A2ML1	c.863A>G	NM_144670.6	NP_653271.3:p.(Lys288Arg)	NC_000012.11:g.8990939A>G	(Likely) benign	1 lab	f106227f0c
16:57003322 CETP C>T	16	57003322	57003322	C	T	CETP	c.258C>T	NM_000078.3	NP_000069.2:p.(Ile86=)	NC_000016.9:g.57003322C>T	(Likely) benign	1 lab	f108c14f33
15:44876056 SPG11 A>G	15	44876056	44876056	A	G	SPG11	c.5822T>C	NM_025137.4	NP_079413.3:p.(Leu1941Pro)	NC_000015.9:g.44876056A>G	VUS	1 lab	f10f7cec0d
8:134125671 TG T>A	8	134125671	134125671	T	A	TG	c.7578T>A	NM_003235.5	NP_003226.4:p.(Phe2526Leu)	NC_000008.10:g.134125671T>A	(Likely) benign	1 lab	f110a8facb
19:45412409 APOE C>T	19	45412409	45412409	C	T	APOE	c.934C>T	NM_001302688.2	NP_001289617.1:p.(Leu312=)	NC_000019.9:g.45412409C>T	(Likely) benign	1 lab	f1118fd20e
11:6661559 DCHS1 C>T	11	6661559	6661559	C	T	DCHS1	c.1286G>A	NM_003737.4	NP_003728.1:p.(Arg429Gln)	NC_000011.9:g.6661559C>T	VUS	1 lab	f111d06e14
4:100512020 MTTP AC>A	4	100512020	100512022	AC	A	MTTP	c.502-370del	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512022del	(Likely) benign	1 lab	f112ef3bed
16:13207826 MISSING G>Alt too long to show for this DUP	16	13207826	14070490	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.13207827_14070490dup	VUS	1 lab	f2591ddb98
10:121431813 BAG3 C>T	10	121431813	121431813	C	T	BAG3	c.554C>T	NM_004281.4	NP_004272.2:p.(Ser185Leu)	NC_000010.10:g.121431813C>T	VUS	1 lab	f116e03d4b
10:89623167 KLLN C>G	10	89623167	89623167	C	G	KLLN	c.-923G>C	NM_001126049.2	NP_001119521.1:p.?	NC_000010.10:g.89623167C>G	(Likely) benign	1 lab	f117c7e188
7:117307016 CFTR G>A	7	117307016	117307016	G	A	CFTR	c.4297G>A	NM_000492.4	NP_000483.3:p.(Glu1433Lys)	NC_000007.13:g.117307016G>A	VUS	1 lab	f117ebff43
1:155209727 GBA1 C>T	1	155209727	155209727	C	T	GBA1	c.257G>A	NM_001005741.3	NP_001005741.1:p.(Arg86Gln)	NC_000001.10:g.155209727C>T	(Likely) benign	1 lab	f1244860e0
12:57905612 MARS1 A>G	12	57905612	57905612	A	G	MARS1	c.1500A>G	NM_004990.4	NP_004981.2:p.(Lys500=)	NC_000012.11:g.57905612A>G	(Likely) benign	1 lab	f1267814ae
5:53751974 HSPB3 A>G	5	53751974	53751974	A	G	HSPB3	c.355A>G	NM_006308.3	NP_006299.1:p.(Lys119Glu)	NC_000005.9:g.53751974A>G	(Likely) benign	1 lab	f126da54d7
2:179640893 TTN C>T	2	179640893	179640893	C	T	TTN	c.5698G>A	NM_001267550.2	NP_001254479.2:p.(Val1900Met)	NC_000002.11:g.179640893C>T	VUS	1 lab	f128db893a
16:67974096 LCAT G>A	16	67974096	67974096	G	A	LCAT	c.1034C>T	NM_000229.2	NP_000220.1:p.(Thr345Met)	NC_000016.9:g.67974096G>A	(Likely) pathogenic	1 lab	f12999d297
11:30999659 MISSING Ref too long to show for this DEL>C	11	30999659	31870663	Ref too long to show for this DEL	C	MISSING				NC_000011.9:g.30999661_31870663del	(Likely) pathogenic	1 lab	f12ccec5af
4:114286357 ANK2 A>ATG	4	114286357	114286388	A	ATG	ANK2	c.11032+49_11032+50dup	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114286387_114286388dup	(Likely) benign	1 lab	f12ced3c12
3:194159705 ATP13A3 G>GA	3	194159705	194159715	G	GA	ATP13A3	c.1711-5dup	NM_024524.4	NP_078800.3:p.?	NC_000003.11:g.194159715dup	(Likely) benign	1 lab	f12db7fef8
7:128480628 FLNC C>T	7	128480628	128480628	C	T	FLNC	c.1576C>T	NM_001458.5	NP_001449.3:p.(Arg526Trp)	NC_000007.13:g.128480628C>T	(Likely) benign	1 lab	f131712662
8:38274930 FGFR1 G>A	8	38274930	38274930	G	A	FGFR1	c.1527C>T	NM_001174064.2	NP_001167535.1:p.(Asp509=)	NC_000008.10:g.38274930G>A	(Likely) benign	1 lab	f131e2094a
2:179526523 TTN C>T	2	179526523	179526523	C	T	TTN	c.37248G>A	NM_001267550.2	NP_001254479.2:p.(Ser12416=)	NC_000002.11:g.179526523C>T	(Likely) benign	1 lab	f13324bab4
16:929318 LMF1 C>T	16	929318	929318	C	T	LMF1	c.498+252G>A	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.929318C>T	(Likely) benign	1 lab	f135d1c02a
11:61539141 MYRF TC>T	11	61539141	61539145	TC	T	MYRF	c.914del	NM_001127392.3	NP_001120864.1:p.(Pro305ArgfsTer100)	NC_000011.9:g.61539145del	(Likely) pathogenic	1 lab	f13b904f4a
8:77765107 MISSING C>Alt too long to show for this DUP	8	77765107	77847140	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.77765111_77847140dup	VUS	1 lab	f1419cf1d4
2:85533571 TCF7L1 C>G	2	85533571	85533571	C	G	TCF7L1	c.1150-4C>G	NM_031283.3	NP_112573.1:p.?	NC_000002.11:g.85533571C>G	(Likely) benign	1 lab	f143e2f8e4
2:179481599 TTN-AS1 CCT>C	2	179481599	179481601	CCT	C	TTN-AS1	n.1604+1499_1604+1500del	NR_038271.1		NC_000002.11:g.179481600_179481601del	(Likely) pathogenic	1 lab	f1459ce209
3:154802131 MME C>T	3	154802131	154802131	C	T	MME	c.160+15C>T	NM_007289.4	NP_009220.2:p.?	NC_000003.11:g.154802131C>T	(Likely) benign	1 lab	f146f9dc1b
16:88787673 PIEZO1 G>A	16	88787673	88787673	G	A	PIEZO1	c.5569C>T	NM_001142864.4	NP_001136336.2:p.(Pro1857Ser)	NC_000016.9:g.88787673G>A	(Likely) benign	1 lab	f14a092c27
X:76875983 ATRX A>C	X	76875983	76875983	A	C	ATRX	c.5152T>G	NM_000489.6	NP_000480.3:p.(Cys1718Gly)	NC_000023.10:g.76875983A>C	VUS	1 lab	f14a6c11f4
22:26937605 TPST2 G>A	22	26937605	26937605	G	A	TPST2	c.-9C>T	NM_001008566.3	NP_001008566.1:p.?	NC_000022.10:g.26937605G>A	(Likely) benign	1 lab	f14bbc7096
15:48413337 SLC24A5 GC>G	15	48413337	48413341	GC	G	SLC24A5	c.100del	NM_205850.3	NP_995322.1:p.(Gln34AsnfsTer37)	NC_000015.9:g.48413341del	(Likely) pathogenic	1 lab	f15483625d
5:58882166 PDE4D A>G	5	58882166	58882166	A	G	PDE4D	c.36T>C	NM_006203.5	NP_006194.2:p.(His12=)	NC_000005.9:g.58882166A>G	(Likely) benign	1 lab	f155924c12
19:45412480 APOE C>G	19	45412480	45412480	C	G	APOE	c.1005C>G	NM_001302688.2	NP_001289617.1:p.(Ala335=)	NC_000019.9:g.45412480C>G	(Likely) benign	1 lab	f1563effe7
9:107560803 ABCA1 C>T	9	107560803	107560803	C	T	ABCA1	c.5020G>A	NM_005502.4	NP_005493.2:p.(Val1674Ile)	NC_000009.11:g.107560803C>T	VUS	1 lab	f158653624
21:43293571 MISSING A>Alt too long to show for this DUP	21	43293571	43365330	A	Alt too long to show for this DUP	MISSING				NC_000021.8:g.43293572_43365330dup	VUS	1 lab	f15972f011
6:44228215 NFKBIE AAGC>A	6	44228215	44228222	AAGC	A	NFKBIE	c.750_752del	NM_004556.3	NP_004547.3:p.(Leu251del)	NC_000006.11:g.44228220_44228222del	VUS	1 lab	f16181bf17
2:21230357 APOB A>G	2	21230357	21230357	A	G	APOB	c.9383T>C	NM_000384.3	NP_000375.3:p.(Ile3128Thr)	NC_000002.11:g.21230357A>G	VUS	1 lab	f16478ba73
2:179610514 TTN C>T	2	179610514	179610514	C	T	TTN	c.16613G>A	NM_133379.5	NP_596870.2:p.(Arg5538His)	NC_000002.11:g.179610514C>T	(Likely) benign	1 lab	f164e53bb4
11:68115598 LRP5 G>A	11	68115598	68115598	G	A	LRP5	c.375G>A	NM_002335.4	NP_002326.2:p.(Thr125=)	NC_000011.9:g.68115598G>A	(Likely) benign	1 lab	f1686ee112
6:32714164 HLA-DQA2 T>C	6	32714164	32714164	T	C	HLA-DQA2	c.761T>C	NM_020056.5	NP_064440.1:p.(Leu254Pro)	NC_000006.11:g.32714164T>C	(Likely) benign	1 lab	f16bbfeafb
19:40903540 PRX C>T	19	40903540	40903540	C	T	PRX	c.719G>A	NM_181882.3	NP_870998.2:p.(Arg240Gln)	NC_000019.9:g.40903540C>T	VUS	1 lab	f16e23b2b8
Y:9197998 TSPY8 C>T	Y	9197998	9197998	C	T	TSPY8	c.911C>T	NM_001243721.2	NP_001230650.1:p.(Ser304Phe)	NC_000024.9:g.9197998C>T	(Likely) benign	1 lab	f1737b9ba3
2:1544464 TPO C>T	2	1544464	1544464	C	T	TPO	c.2717C>T	NM_001206744.2	NP_001193673.1:p.(Pro906Leu)	NC_000002.11:g.1544464C>T	(Likely) benign	1 lab	f17626b336
7:44150739 AEBP1 C>T	7	44150739	44150739	C	T	AEBP1	c.1631-14C>T	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44150739C>T	(Likely) benign	1 lab	f179b1817c
8:22031017 BMP1 T>G	8	22031017	22031017	T	G	BMP1	c.149-98T>G	NM_006129.5	NP_006120.1:p.?	NC_000008.10:g.22031017T>G	(Likely) benign	1 lab	f17db5b7e0
X:99551827 PCDH19 G>T	X	99551827	99551827	G	T	PCDH19	c.2895C>A	NM_001184880.2	NP_001171809.1:p.(Gly965=)	NC_000023.10:g.99551827G>T	(Likely) benign	1 lab	f185da8425
5:112176178 APC TGTTA>T	5	112176178	112176185	TGTTA	T	APC	c.4891_4894del	NM_000038.6	NP_000029.2:p.(Ser1631LeufsTer18)	NC_000005.9:g.112176182_112176185del	(Likely) pathogenic	1 lab	f18fde9b07
16:926830 LMF1 A>G	16	926830	926830	A	G	LMF1	c.498+2740T>C	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.926830A>G	(Likely) benign	1 lab	f193eb43ac
7:91631743 AKAP9 C>G	7	91631743	91631743	C	G	AKAP9	c.2512C>G	NM_005751.5	NP_005742.4:p.(Gln838Glu)	NC_000007.13:g.91631743C>G	VUS	1 lab	f19e7c5898
14:23853665 MYH6 C>T	14	23853665	23853665	C	T	MYH6	c.5551G>A	NM_002471.4	NP_002462.2:p.(Glu1851Lys)	NC_000014.8:g.23853665C>T	VUS	1 lab	f1b1240cf1
2:179443451 TTN A>T	2	179443451	179443451	A	T	TTN	c.68225-9T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179443451A>T	(Likely) benign	1 lab	f1b5f99865
3:52437527 BAP1 C>T	3	52437527	52437527	C	T	BAP1	c.1634G>A	NM_004656.4	NP_004647.1:p.(Arg545His)	NC_000003.11:g.52437527C>T	VUS	1 lab	f1b8dad540
8:19819739 LPL T>A	8	19819739	19819739	T	A	LPL	c.1427+9T>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819739T>A	(Likely) benign	1 lab	f1ba6b8638
11:116701583 APOC3 G>A	11	116701583	116701583	G	A	APOC3	c.150G>A	NM_000040.3	NP_000031.1:p.(Val50=)	NC_000011.9:g.116701583G>A	(Likely) benign	1 lab	f1bce5c2d9
19:45412252 APOE C>T	19	45412252	45412252	C	T	APOE	c.777C>T	NM_001302688.2	NP_001289617.1:p.(Arg259=)	NC_000019.9:g.45412252C>T	(Likely) benign	1 lab	f1be7d98cd
13:100959532 PCCA A>G	13	100959532	100959532	A	G	PCCA	c.1353+18A>G	NM_000282.4	NP_000273.2:p.?	NC_000013.10:g.100959532A>G	(Likely) benign	1 lab	f1c206324a
19:36145501 COX6B1 C>T	19	36145501	36145501	C	T	COX6B1	c.135C>T	NM_001863.5	NP_001854.1:p.(Thr45=)	NC_000019.9:g.36145501C>T	(Likely) benign	1 lab	f1c355f55b
1:63068014 ANGPTL3 G>A	1	63068014	63068014	G	A	ANGPTL3	c.894G>A	NM_014495.4	NP_055310.1:p.(Thr298=)	NC_000001.10:g.63068014G>A	(Likely) benign	1 lab	f1cb59d4ae
19:11212995 LDLR TTG>T	19	11212995	11213011	TTG	T	LDLR	c.191-330_191-329del	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11213010_11213011del	(Likely) benign	1 lab	f1cb9fdf7e
6:70961954 COL9A1 T>TGGTG	6	70961954	70961958	T	TGGTG	COL9A1	c.1818+7_1818+10dup	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70961955_70961958dup	(Likely) benign	1 lab	f1ccde16bb
18:19345898 MIB1 G>A	18	19345898	19345898	G	A	MIB1	c.395G>A	NM_020774.4	NP_065825.1:p.(Ser132Asn)	NC_000018.9:g.19345898G>A	VUS	1 lab	f1d59d885b
10:88452326 LDB3 A>G	10	88452326	88452326	A	G	LDB3	c.1098A>G	NM_001171610.2	NP_001165081.1:p.(Ser366=)	NC_000010.10:g.88452326A>G	(Likely) benign	1 lab	f1db4e0d15
18:29121175 DSG2 G>A	18	29121175	29121175	G	A	DSG2	c.1899G>A	NM_001943.5	NP_001934.2:p.(Leu633=)	NC_000018.9:g.29121175G>A	(Likely) benign	1 lab	f1e3b66e05
11:47353738 MYBPC3 C>T	11	47353738	47353738	C	T	MYBPC3	c.3699G>A	NM_000256.3	NP_000247.2:p.(Gln1233=)	NC_000011.9:g.47353738C>T	(Likely) benign	1 lab	f1e44fcb6f
10:17592109 MISSING Ref too long to show for this DEL>C	10	17592109	17632165	Ref too long to show for this DEL	C	MISSING				NC_000010.10:g.17592111_17632165del	VUS	1 lab	f1e6332804
2:179579122 TTN G>A	2	179579122	179579122	G	A	TTN	c.26379C>T	NM_001267550.2	NP_001254479.2:p.(Thr8793=)	NC_000002.11:g.179579122G>A	(Likely) benign	1 lab	f1e8b7ac2b
2:21241925 APOB A>G	2	21241925	21241925	A	G	APOB	c.3060T>C	NM_000384.3	NP_000375.3:p.(Tyr1020=)	NC_000002.11:g.21241925A>G	(Likely) benign	1 lab	f1f2416b1b
6:75866128 COL12A1 G>A	6	75866128	75866128	G	A	COL12A1	c.3095C>T	NM_004370.6	NP_004361.3:p.(Pro1032Leu)	NC_000006.11:g.75866128G>A	VUS	1 lab	f1f3e904ee
7:128485309 FLNC G>A	7	128485309	128485309	G	A	FLNC	c.3790G>A	NM_001458.5	NP_001449.3:p.(Gly1264Ser)	NC_000007.13:g.128485309G>A	VUS	1 lab	f1f51fc4ca
8:19813438 LPL G>A	8	19813438	19813438	G	A	LPL	c.862G>A	NM_000237.3	NP_000228.1:p.(Ala288Thr)	NC_000008.10:g.19813438G>A	(Likely) pathogenic	1 lab	f1fa98da06
2:202587857 ALS2 CAA>C	2	202587857	202587859	CAA	C	ALS2	c.3625-16_3625-15del	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202587858_202587859del	(Likely) benign	1 lab	f1fe10108d
6:51680420 PKHD1 Ref too long to show for this DEL>A	6	51680420	51696676	Ref too long to show for this DEL	A	PKHD1	c.8174-888_8302+15238del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51680422_51696676del	VUS	1 lab	f1ffea07f1
9:8471388 PTPRD Ref too long to show for this DEL>A	9	8471388	9133694	Ref too long to show for this DEL	A	PTPRD	c.-143+49610_3414-304del	NM_002839.4	NP_002830.1:p.?	NC_000009.11:g.8471389_9133694del	VUS	1 lab	f20bde9cd1
3:38617266 SCN5A C>A	3	38617266	38617266	C	A	SCN5A	c.3512-324G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38617266C>A	(Likely) benign	1 lab	f21366c7ba
1:23191483 EPHB2 A>G	1	23191483	23191483	A	G	EPHB2	c.1081A>G	NM_017449.5	NP_059145.2:p.(Ile361Val)	NC_000001.10:g.23191483A>G	(Likely) benign	1 lab	f21424bcdc
8:144995736 PLEC G>A	8	144995736	144995736	G	A	PLEC	c.8664C>T	NM_201380.4	NP_958782.1:p.(Asn2888=)	NC_000008.10:g.144995736G>A	(Likely) benign	1 lab	f21451a26b
2:73646454 ALMS1 C>G	2	73646454	73646454	C	G	ALMS1	c.649+8C>G	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73646454C>G	(Likely) benign	1 lab	f214ef4aa8
9:2718351 KCNV2 G>A	9	2718351	2718351	G	A	KCNV2	c.612G>A	NM_133497.4	NP_598004.1:p.(Glu204=)	NC_000009.11:g.2718351G>A	(Likely) benign	1 lab	f21b7501d0
16:23647673 PALB2 G>A	16	23647673	23647673	G	A	PALB2	c.212-18C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23647673G>A	(Likely) benign	1 lab	f21f10b6c1
2:44049618 ABCG5 C>A	2	44049618	44049618	C	A	ABCG5	c.1463+318G>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44049618C>A	(Likely) benign	1 lab	f220936093
4:106395098 PPA2 G>C	4	106395098	106395098	G	C	PPA2	c.110C>G	NM_176869.3	NP_789845.1:p.(Thr37Ser)	NC_000004.11:g.106395098G>C	VUS	1 lab	f228cb4dec
10:95042199 MISSING Ref too long to show for this DEL>G	10	95042199	95160146	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.95042202_95160146del	VUS	1 lab	f22ca59159
X:70443642 GJB1 T>C	X	70443642	70443642	T	C	GJB1	c.85T>C	NM_000166.6	NP_000157.1:p.(Phe29Leu)	NC_000023.10:g.70443642T>C	(Likely) pathogenic	1 lab	f231970451
8:7807627 ZNF705B T>A	8	7807627	7807627	T	A	ZNF705B	c.212T>A	NM_001193630.1	NP_001180559.1:p.(Val71Glu)	NC_000008.10:g.7807627T>A	(Likely) benign	1 lab	f233b6c597
13:28628865 FLT3 Ref too long to show for this DEL>A	13	28628865	28638055	Ref too long to show for this DEL	A	FLT3	c.166-1849_485-2055del	NM_004119.3	NP_004110.2:p.?	NC_000013.10:g.28628866_28638055del	VUS	1 lab	f2386ed084
15:65944011 SLC24A1 T>G	15	65944011	65944011	T	G	SLC24A1	c.2797T>G	NM_004727.3	NP_004718.1:p.(Ser933Ala)	NC_000015.9:g.65944011T>G	(Likely) benign	1 lab	f23f02fe6d
2:21251244 APOB G>A	2	21251244	21251244	G	A	APOB	c.1784C>T	NM_000384.3	NP_000375.3:p.(Ser595Phe)	NC_000002.11:g.21251244G>A	(Likely) benign	1 lab	f242d6e680
12:49373459 WNT1 C>T	12	49373459	49373459	C	T	WNT1	c.313C>T	NM_005430.4	NP_005421.1:p.(Pro105Ser)	NC_000012.11:g.49373459C>T	VUS	1 lab	f243b770f8
6:75838478 COL12A1 C>G	6	75838478	75838478	C	G	COL12A1	c.6211-337G>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75838478C>G	(Likely) benign	1 lab	f24d774043
19:11215973 LDLR G>C	19	11215973	11215973	G	C	LDLR	c.391G>C	NM_000527.5	NP_000518.1:p.(Asp131His)	NC_000019.9:g.11215973G>C	(Likely) pathogenic	1 lab	f250ad312b
2:179636151 TTN G>A	2	179636151	179636151	G	A	TTN	c.7903C>T	NM_001267550.2	NP_001254479.2:p.(Gln2635Ter)	NC_000002.11:g.179636151G>A	(Likely) pathogenic	1 lab	f253dff219
1:154145448 TPM3 G>C	1	154145448	154145448	G	C	TPM3	c.502C>G	NM_152263.4	NP_689476.2:p.(Arg168Gly)	NC_000001.10:g.154145448G>C	(Likely) pathogenic	1 lab	f2558c176c
2:55490989 MTIF2 G>A	2	55490989	55490989	G	A	MTIF2	c.6C>T	NM_001005369.1	NP_001005369.1:p.(Asn2=)	NC_000002.11:g.55490989G>A	(Likely) benign	1 lab	f25733b2df
2:8294775 MISSING Ref too long to show for this DEL>T	2	8294775	14770032	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.8294780_14770032del	(Likely) pathogenic	1 lab	f259329ee6
15:42631228 MISSING Ref too long to show for this DEL>G	15	42631228	42703372	Ref too long to show for this DEL	G	MISSING				NC_000015.9:g.42631230_42703372del	VUS	1 lab	f25a84f113
11:10052633 SBF2 C>T	11	10052633	10052633	C	T	SBF2	c.364G>A	NM_030962.4	NP_112224.1:p.(Val122Met)	NC_000011.9:g.10052633C>T	VUS	1 lab	f25d2f51a7
10:26727222 MISSING Ref too long to show for this DEL>G	10	26727222	30258461	Ref too long to show for this DEL	G	MISSING				NC_000010.10:g.26727223_30258461del	(Likely) pathogenic	1 lab	f267bd0560
12:76739644 BBS10 AAC>A	12	76739644	76739647	AAC	A	BBS10	c.2119_2120del	NM_024685.4	NP_078961.3:p.(Val707Ter)	NC_000012.11:g.76739646_76739647del	(Likely) pathogenic	1 lab	f2698712ae
15:45398803 DUOX2 C>G	15	45398803	45398803	C	G	DUOX2	c.1868G>C	NM_001363711.2	NP_001350640.1:p.(Arg623Pro)	NC_000015.9:g.45398803C>G	VUS	1 lab	f26aeb2d45
5:77396823 AP3B1 A>G	5	77396823	77396823	A	G	AP3B1	c.2277T>C	NM_001271769.2	NP_001258698.1:p.(Asp759=)	NC_000005.9:g.77396823A>G	(Likely) benign	1 lab	f26af1c094
22:38509592 PLA2G6 G>A	22	38509592	38509592	G	A	PLA2G6	c.1570C>T	NM_001349867.2	NP_001336796.1:p.(Pro524Ser)	NC_000022.10:g.38509592G>A	VUS	1 lab	f26bc2d9b8
2:241737182 KIF1A C>T	2	241737182	241737182	C	T	KIF1A	c.-13G>A	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241737182C>T	(Likely) benign	1 lab	f26dcedbe1
4:147363978 SLC10A7 G>T	4	147363978	147363978	G	T	SLC10A7	c.397-5C>A	NM_001029998.6	NP_001025169.1:p.?	NC_000004.11:g.147363978G>T	(Likely) benign	1 lab	f273907cb7
18:6958609 LAMA1 T>G	18	6958609	6958609	T	G	LAMA1	c.7831A>C	NM_005559.4	NP_005550.2:p.(Thr2611Pro)	NC_000018.9:g.6958609T>G	(Likely) benign	1 lab	f27495b4d7
16:67973789 LCAT G>A	16	67973789	67973789	G	A	LCAT	c.*18C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67973789G>A	(Likely) benign	1 lab	f2763585d8
12:125294763 SCARB1 T>A	12	125294763	125294763	T	A	SCARB1	c.799A>T	NM_001367981.1	NP_001354910.1:p.(Thr267Ser)	NC_000012.11:g.125294763T>A	VUS	1 lab	f2777c2914
21:47404336 COL6A1 C>T	21	47404336	47404336	C	T	COL6A1	c.381C>T	NM_001848.3	NP_001839.2:p.(Thr127=)	NC_000021.8:g.47404336C>T	(Likely) benign	1 lab	f279363f58
17:39914949 JUP C>T	17	39914949	39914949	C	T	JUP	c.1653+18G>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39914949C>T	(Likely) benign	1 lab	f279bd379a
12:2702528 CACNA1C G>C	12	2702528	2702528	G	C	CACNA1C	c.2663+17G>C	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2702528G>C	(Likely) benign	1 lab	f2879871f3
20:13029790 SPTLC3 C>T	20	13029790	13029790	C	T	SPTLC3	c.303+12C>T	NM_018327.4	NP_060797.2:p.?	NC_000020.10:g.13029790C>T	(Likely) benign	1 lab	f28e2d9265
19:36212112 KMT2B T>C	19	36212112	36212112	T	C	KMT2B	c.1863T>C	NM_014727.3	NP_055542.1:p.(Pro621=)	NC_000019.9:g.36212112T>C	(Likely) benign	1 lab	f28f017b10
8:62465648 ASPH TCA>T	8	62465648	62465650	TCA	T	ASPH	c.1566_1567del	NM_004318.4	NP_004309.2:p.(Asp523Ter)	NC_000008.10:g.62465649_62465650del	(Likely) pathogenic	1 lab	f2924c2f72
3:46492135 LTF G>A	3	46492135	46492135	G	A	LTF	c.693C>T	NM_001321122.2	NP_001308051.1:p.(Asp231=)	NC_000003.11:g.46492135G>A	(Likely) benign	1 lab	f292acd661
14:21991136 SALL2 C>A	14	21991136	21991136	C	A	SALL2	c.2726G>T	NM_005407.3	NP_005398.2:p.(Ser909Ile)	NC_000014.8:g.21991136C>A	VUS	1 lab	f293e29870
11:130185274 MISSING Ref too long to show for this DEL>A	11	130185274	134938470	Ref too long to show for this DEL	A	MISSING				NC_000011.9:g.130185276_134938470del	(Likely) pathogenic	1 lab	f294a9d1f0
2:179567305 TTN A>G	2	179567305	179567305	A	G	TTN	c.30309T>C	NM_001267550.2	NP_001254479.2:p.(Phe10103=)	NC_000002.11:g.179567305A>G	(Likely) benign	1 lab	f2a485f578
15:45402830 DUOX2 C>G	15	45402830	45402830	C	G	DUOX2	c.943+18G>C	NM_014080.5	NP_054799.4:p.?	NC_000015.9:g.45402830C>G	(Likely) benign	1 lab	f2a81c6ab9
16:81348863 GAN G>A	16	81348863	81348863	G	A	GAN	c.145G>A	NM_022041.4	NP_071324.1:p.(Ala49Thr)	NC_000016.9:g.81348863G>A	(Likely) pathogenic	1 lab	f2a83ec2bd
8:19797233 LPL C>A	8	19797233	19797233	C	A	LPL	c.88+194C>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19797233C>A	(Likely) benign	1 lab	f2ad089c04
16:1570287 IFT140 C>T	16	1570287	1570287	C	T	IFT140	c.3718G>A	NM_014714.4	NP_055529.2:p.(Val1240Met)	NC_000016.9:g.1570287C>T	VUS	1 lab	f2ae2a73d6
5:74016507 HEXB C>CAAAG	5	74016507	74016512	C	CAAAG	HEXB	c.875_878dup	NM_001292004.2	NP_001278933.1:p.(Asp293GlufsTer8)	NC_000005.9:g.74016509_74016512dup	(Likely) pathogenic	1 lab	f2afa3a7da
2:179404133 TTN G>C	2	179404133	179404133	G	C	TTN	c.98659C>G	NM_001267550.2	NP_001254479.2:p.(Pro32887Ala)	NC_000002.11:g.179404133G>C	VUS	1 lab	f2b7a6d8a6
16:1020779 LMF1 G>A	16	1020779	1020779	G	A	LMF1	c.193+9C>T	NM_022773.4	NP_073610.2:p.?	NC_000016.9:g.1020779G>A	(Likely) benign	1 lab	f2b878851d
2:179599278 TTN ATTTG>A	2	179599278	179599284	ATTTG	A	TTN	c.15269_15272del	NM_001267550.2	NP_001254479.2:p.(Thr5090MetfsTer81)	NC_000002.11:g.179599281_179599284del	(Likely) benign	1 lab	f2bd2ffe85
2:213063701 ERBB4 Ref too long to show for this DEL>T	2	213063701	213246468	Ref too long to show for this DEL	T	ERBB4	c.82+156705_83-74074del	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.213063702_213246468del	VUS	1 lab	f2c164d6e5
3:138892783 MISSING Ref too long to show for this DEL>T	3	138892783	139037767	Ref too long to show for this DEL	T	MISSING				NC_000003.11:g.138892785_139037767del	(Likely) pathogenic	1 lab	f2ca967690
3:38671782 SCN5A G>T	3	38671782	38671782	G	T	SCN5A	c.392+20C>A	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38671782G>T	(Likely) benign	1 lab	f2cb0ea193
7:75933403 HSPB1 C>T	7	75933403	75933403	C	T	HSPB1	c.531C>T	NM_001540.5	NP_001531.1:p.(Asn177=)	NC_000007.13:g.75933403C>T	(Likely) benign	1 lab	f2cf13868c
2:179622606 TTN T>C	2	179622606	179622606	T	C	TTN	c.10341A>G	NM_001267550.2	NP_001254479.2:p.(Gln3447=)	NC_000002.11:g.179622606T>C	(Likely) benign	1 lab	f2d211535e
14:23885251 MYH7 C>T	14	23885251	23885251	C	T	MYH7	c.4915G>A	NM_000257.4	NP_000248.2:p.(Ala1639Thr)	NC_000014.8:g.23885251C>T	VUS	1 lab	f2d4a716b2
11:8122166 TUB C>G	11	8122166	8122166	C	G	TUB	c.1380+18C>G	NM_003320.5	NP_003311.2:p.?	NC_000011.9:g.8122166C>G	(Likely) benign	1 lab	f2d6790693
14:92343894 FBLN5 G>A	14	92343894	92343894	G	A	FBLN5	c.1122C>T	NM_006329.4	NP_006320.2:p.(Tyr374=)	NC_000014.8:g.92343894G>A	(Likely) benign	1 lab	f2d6f2f285
17:59857615 BRIP1 A>G	17	59857615	59857615	A	G	BRIP1	c.1935+7T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857615A>G	(Likely) benign	1 lab	f2d7713b8f
5:7893005 MTRR C>T	5	7893005	7893005	C	T	MTRR	c.1536C>T	NM_002454.3	NP_002445.2:p.(Ser512=)	NC_000005.9:g.7893005C>T	(Likely) benign	1 lab	f2e35cdd06
3:46902238 MYL3 C>T	3	46902238	46902238	C	T	MYL3	c.235G>A	NM_000258.3	NP_000249.1:p.(Val79Ile)	NC_000003.11:g.46902238C>T	VUS	1 lab	f2e54fcb6f
2:179534224 TTN C>T	2	179534224	179534224	C	T	TTN	c.35471-50G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179534224C>T	(Likely) benign	1 lab	f2e680bf97
13:52531635 ATP7B T>C	13	52531635	52531635	T	C	ATP7B	c.2447+17A>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52531635T>C	(Likely) benign	1 lab	f2eb1e9887
14:90458336 TDP1 T>C	14	90458336	90458336	T	C	TDP1	c.1433+9T>C	NM_018319.4	NP_060789.2:p.?	NC_000014.8:g.90458336T>C	(Likely) benign	1 lab	f2ecabc781
14:23886764 MYH7 C>T	14	23886764	23886764	C	T	MYH7	c.4301G>A	NM_000257.4	NP_000248.2:p.(Arg1434His)	NC_000014.8:g.23886764C>T	VUS	1 lab	f2f696980f
17:75401191 SEPTIN9 C>T	17	75401191	75401191	C	T	SEPTIN9	c.18C>T	NM_001293696.2	NP_001280625.1:p.(Cys6=)	NC_000017.10:g.75401191C>T	(Likely) benign	1 lab	f2fed39131
3:79174709 ROBO1 A>G	3	79174709	79174709	A	G	ROBO1	c.89-20T>C	NM_002941.4	NP_002932.1:p.?	NC_000003.11:g.79174709A>G	(Likely) benign	1 lab	f2ff45cf87
8:145739679 RECQL4 G>A	8	145739679	145739679	G	A	RECQL4	c.1772C>T	NM_004260.4	NP_004251.4:p.(Pro591Leu)	NC_000008.10:g.145739679G>A	(Likely) benign	1 lab	f300a956b7
11:116706824 APOA1 C>T	11	116706824	116706824	C	T	APOA1	c.177G>A	NM_001318021.1	NP_001304950.1:p.(Leu59=)	NC_000011.9:g.116706824C>T	(Likely) benign	1 lab	f3028d12ad
1:25889177 LDLRAP1 G>A	1	25889177	25889177	G	A	LDLRAP1	c.502G>A	NM_015627.3	NP_056442.2:p.(Ala168Thr)	NC_000001.10:g.25889177G>A	(Likely) pathogenic	1 lab	f304d2846b
15:58834095 LIPC C>T	15	58834095	58834095	C	T	LIPC	c.385C>T	NM_000236.3	NP_000227.2:p.(His129Tyr)	NC_000015.9:g.58834095C>T	VUS	1 lab	f306af21fd
12:50497817 GPD1 G>C	12	50497817	50497817	G	C	GPD1	c.-17G>C	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50497817G>C	VUS	1 lab	f308fc7e3d
8:144298159 GPIHBP1 G>GT	8	144298159	144298160	G	GT	GPIHBP1	c.*766_*768=	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144298159_144298160insT	(Likely) benign	1 lab	f309744f18
1:94493680 ABCA4 T>C	1	94493680	94493680	T	C	ABCA4	c.4539+1321A>G	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94493680T>C	(Likely) benign	1 lab	f309a45c7b
2:179595770 TTN A>G	2	179595770	179595770	A	G	TTN	c.17622T>C	NM_001267550.2	NP_001254479.2:p.(Thr5874=)	NC_000002.11:g.179595770A>G	(Likely) benign	1 lab	f311226d05
4:186586316 SORBS2 Ref too long to show for this DEL>G	4	186586316	186605365	Ref too long to show for this DEL	G	SORBS2	c.103+543_256-2921del	NM_001395207.1	NP_001382136.1:p.?	NC_000004.11:g.186586317_186605365del	VUS	1 lab	f317140522
8:17153068 MISSING Ref too long to show for this DEL>A	8	17153068	17206335	Ref too long to show for this DEL	A	MISSING				NC_000008.10:g.17153070_17206335del	VUS	1 lab	f31860ba3e
6:7585647 DSP C>A	6	7585647	7585647	C	A	DSP	c.8152C>A	NM_004415.4	NP_004406.2:p.(Leu2718Ile)	NC_000006.11:g.7585647C>A	VUS	1 lab	f3198834a1
2:21230764 APOB G>A	2	21230764	21230764	G	A	APOB	c.8976C>T	NM_000384.3	NP_000375.3:p.(Val2992=)	NC_000002.11:g.21230764G>A	(Likely) benign	1 lab	f31baf9dac
1:161276672 MPZ C>T	1	161276672	161276672	C	T	MPZ	c.274G>A	NM_000530.8	NP_000521.2:p.(Val92Met)	NC_000001.10:g.161276672C>T	(Likely) pathogenic	1 lab	f326a46b45
16:16415261 PKD1P1 AGTG>A	16	16415261	16415267	AGTG	A	PKD1P1	n.1784+1_1784+3del	NR_036447.1		NC_000016.9:g.16415265_16415267del	(Likely) benign	1 lab	f330172723
3:75787224 ZNF717 C>T	3	75787224	75787224	C	T	ZNF717	c.1550G>A	NM_001128223.3	NP_001121695.1:p.(Arg517His)	NC_000003.11:g.75787224C>T	(Likely) benign	1 lab	f33437b6b7
8:22262228 SLC39A14 AGCTGCT>A	8	22262228	22262242	AGCTGCT	A	SLC39A14	c.14_19del	NM_001351660.2	NP_001338589.1:p.(Leu5_Leu6del)	NC_000008.10:g.22262237_22262242del	(Likely) benign	1 lab	f33ccecf44
8:19818483 LPL T>A	8	19818483	19818483	T	A	LPL	c.1211T>A	NM_000237.3	NP_000228.1:p.(Met404Lys)	NC_000008.10:g.19818483T>A	VUS	1 lab	f34066a38b
16:72137991 DHX38 C>T	16	72137991	72137991	C	T	DHX38	c.1971C>T	NM_014003.4	NP_054722.2:p.(Arg657=)	NC_000016.9:g.72137991C>T	(Likely) benign	1 lab	f3446a6a93
6:119252564 MCM9 T>C	6	119252564	119252564	T	C	MCM9	c.304+21A>G	NM_017696.3	NP_060166.2:p.?	NC_000006.11:g.119252564T>C	(Likely) benign	1 lab	f34501cf58
5:7757704 ADCY2 G>GCCCCAGAGCA	5	7757704	7757705	G	GCCCCAGAGCA	ADCY2	c.2094+5_2094+6insCCCCAGAGCA	NM_020546.3	NP_065433.2:p.?	NC_000005.9:g.7757704_7757705insCCCCAGAGCA	(Likely) benign	1 lab	f346a1629a
12:49425422 KMT2D C>G	12	49425422	49425422	C	G	KMT2D	c.13066G>C	NM_003482.4	NP_003473.3:p.(Gly4356Arg)	NC_000012.11:g.49425422C>G	VUS	1 lab	f34ac96765
12:57970157 KIF5A A>C	12	57970157	57970157	A	C	KIF5A	c.2194A>C	NM_004984.4	NP_004975.2:p.(Lys732Gln)	NC_000012.11:g.57970157A>C	VUS	1 lab	f3510f014b
2:242684159 D2HGDH C>A	2	242684159	242684159	C	A	D2HGDH	c.720C>A	NM_152783.5	NP_689996.4:p.(Thr240=)	NC_000002.11:g.242684159C>A	(Likely) benign	1 lab	f351ce508f
10:91005854 LIPA C>T	10	91005854	91005854	C	T	LIPA	c.112-304G>A	NM_000235.4	NP_000226.2:p.?	NC_000010.10:g.91005854C>T	(Likely) benign	1 lab	f356bf8573
16:29432269 MISSING Ref too long to show for this DEL>A	16	29432269	30240228	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29432271_30240228del	(Likely) pathogenic	1 lab	f35876b8e8
9:2086973 SMARCA2 C>T	9	2086973	2086973	C	T	SMARCA2	c.2671C>T	NM_003070.5	NP_003061.3:p.(Leu891Phe)	NC_000009.11:g.2086973C>T	(Likely) pathogenic	1 lab	f35b52fafa
2:27276052 AGBL5 C>T	2	27276052	27276052	C	T	AGBL5	c.215+11C>T	NM_021831.6	NP_068603.4:p.?	NC_000002.11:g.27276052C>T	(Likely) benign	1 lab	f35dc3b53f
11:3877499 STIM1 Ref too long to show for this DEL>T	11	3877499	3935964	Ref too long to show for this DEL	T	STIM1	c.1_140-52818del	NM_001382567.1	NP_001369496.1:p.(Met1?)	NC_000011.9:g.3877501_3935964del	VUS	1 lab	f35e58f835
X:19364693 PDHA1 C>T	X	19364693	19364693	C	T	PDHA1	c.123C>T	NM_001173454.2	NP_001166925.1:p.(Leu41=)	NC_000023.10:g.19364693C>T	(Likely) benign	1 lab	f35e663e5b
9:135152543 SETX TAA>T	9	135152543	135152555	TAA	T	SETX	c.6843-6_6843-5del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135152554_135152555del	(Likely) benign	1 lab	f35f7675e5
6:44233372 MISSING G>A	6	44233372	44233372	G	A	MISSING				NC_000006.11:g.44233372G>A	(Likely) benign	1 lab	f3606de35b
9:34637266 SIGMAR1 G>A	9	34637266	34637266	G	A	SIGMAR1	c.303C>T	NM_005866.4	NP_005857.1:p.(Ser101=)	NC_000009.11:g.34637266G>A	(Likely) benign	1 lab	f3645383e2
5:41843682 OXCT1 T>C	5	41843682	41843682	T	C	OXCT1	c.565-799A>G	NM_000436.4	NP_000427.1:p.?	NC_000005.9:g.41843682T>C	(Likely) benign	1 lab	f364bacacb
14:94286521 MISSING Ref too long to show for this DEL>G	14	94286521	94433083	Ref too long to show for this DEL	G	MISSING				NC_000014.8:g.94286524_94433083del	VUS	1 lab	f36586213e
6:112439084 LAMA4 A>G	6	112439084	112439084	A	G	LAMA4	c.4839T>C	NM_001105206.3	NP_001098676.2:p.(Ser1613=)	NC_000006.11:g.112439084A>G	(Likely) benign	1 lab	f36a73250f
14:77320375 MISSING T>Alt too long to show for this DUP	14	77320375	77476046	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.77320377_77476046dup	VUS	1 lab	f36e1c1d83
12:125294700 SCARB1 C>T	12	125294700	125294700	C	T	SCARB1	c.842+20G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125294700C>T	(Likely) benign	1 lab	f36f4be003
18:29116243 DSG2 A>G	18	29116243	29116243	A	G	DSG2	c.1502A>G	NM_001943.5	NP_001934.2:p.(Glu501Gly)	NC_000018.9:g.29116243A>G	VUS	1 lab	f372b2ceb6
19:36297694 PRODH2 C>T	19	36297694	36297694	C	T	PRODH2	c.717G>A	NM_021232.2	NP_067055.2:p.(Ala239=)	NC_000019.9:g.36297694C>T	(Likely) benign	1 lab	f37532b838
19:45412016 APOE C>G	19	45412016	45412016	C	G	APOE	c.541C>G	NM_001302688.2	NP_001289617.1:p.(Leu181Val)	NC_000019.9:g.45412016C>G	(Likely) benign	1 lab	f37596a660
3:176755954 TBL1XR1 C>T	3	176755954	176755954	C	T	TBL1XR1	c.1054G>A	NM_024665.7	NP_078941.2:p.(Val352Ile)	NC_000003.11:g.176755954C>T	VUS	1 lab	f377157d75
16:54318507 IRX3 C>T	16	54318507	54318507	C	T	IRX3	c.1286G>A	NM_024336.3	NP_077312.2:p.(Gly429Asp)	NC_000016.9:g.54318507C>T	VUS	1 lab	f37b17ab61
2:170344321 BBS5 G>A	2	170344321	170344321	G	A	BBS5	c.214G>A	NM_152384.3	NP_689597.1:p.(Gly72Ser)	NC_000002.11:g.170344321G>A	(Likely) pathogenic	1 lab	f37ced7680
15:31320528 TRPM1 C>T	15	31320528	31320528	C	T	TRPM1	c.3344+7G>A	NM_001252020.2	NP_001238949.1:p.?	NC_000015.9:g.31320528C>T	(Likely) benign	1 lab	f387d6b6c2
9:137650283 COL5A1 C>T	9	137650283	137650283	C	T	COL5A1	c.1935+141C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137650283C>T	(Likely) benign	1 lab	f398aeb1fb
7:154379517 DPP6 C>T	7	154379517	154379517	C	T	DPP6	c.785C>T	NM_001290253.2	NP_001277182.1:p.(Ser262Leu)	NC_000007.13:g.154379517C>T	(Likely) benign	1 lab	f399b2f347
5:127697491 FBN2 G>C	5	127697491	127697491	G	C	FBN2	c.2479C>G	NM_001999.4	NP_001990.2:p.(Arg827Gly)	NC_000005.9:g.127697491G>C	VUS	1 lab	f39ff379ad
1:161276650 MPZ A>G	1	161276650	161276650	A	G	MPZ	c.296T>C	NM_000530.8	NP_000521.2:p.(Ile99Thr)	NC_000001.10:g.161276650A>G	(Likely) pathogenic	1 lab	f3a0070ac2
19:11240198 LDLR TCTTC>T	19	11240198	11240205	TCTTC	T	LDLR	c.2403_2406del	NM_000527.5	NP_000518.1:p.(Leu802AlafsTer126)	NC_000019.9:g.11240202_11240205del	(Likely) pathogenic	1 lab	f3a2162c7f
3:69171562 LMOD3 TAGAAA>T	3	69171562	69171571	TAGAAA	T	LMOD3	c.-30_-26del	NM_198271.5	NP_938012.2:p.?	NC_000003.11:g.69171567_69171571del	(Likely) benign	1 lab	f3a8ff50d0
12:57963456 KIF5A G>C	12	57963456	57963456	G	C	KIF5A	c.1107G>C	NM_004984.4	NP_004975.2:p.(Arg369=)	NC_000012.11:g.57963456G>C	VUS	1 lab	f3a982a9dd
14:64604634 SYNE2 T>C	14	64604634	64604634	T	C	SYNE2	c.14776T>C	NM_182914.3	NP_878918.2:p.(Leu4926=)	NC_000014.8:g.64604634T>C	(Likely) benign	1 lab	f3aa5c1228
11:47372466 MYBPC3 A>C	11	47372466	47372466	A	C	MYBPC3	c.293-300T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372466A>C	(Likely) benign	1 lab	f3ab6c3187
13:86368449 SLITRK6 C>T	13	86368449	86368449	C	T	SLITRK6	c.2195G>A	NM_032229.3	NP_115605.2:p.(Gly732Glu)	NC_000013.10:g.86368449C>T	(Likely) benign	1 lab	f3abb5d56b
2:21242608 APOB T>C	2	21242608	21242608	T	C	APOB	c.2986A>G	NM_000384.3	NP_000375.3:p.(Thr996Ala)	NC_000002.11:g.21242608T>C	VUS	1 lab	f3b1c6766b
5:86642551 RASA1 T>C	5	86642551	86642551	T	C	RASA1	c.1102+10T>C	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86642551T>C	(Likely) benign	1 lab	f3b920b2a9
1:3348695 PRDM16 T>C	1	3348695	3348695	T	C	PRDM16	c.3687T>C	NM_022114.4	NP_071397.3:p.(Ala1229=)	NC_000001.10:g.3348695T>C	(Likely) benign	1 lab	f3b97498e8
X:123505668 STAG2 Ref too long to show for this DEL>T	X	123505668	123509682	Ref too long to show for this DEL	T	STAG2				NC_000023.10:g.123505669_123509682del	VUS	1 lab	f3bd49b50a
8:59404337 CYP7A1 C>A	8	59404337	59404337	C	A	CYP7A1	c.1216-4G>T	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59404337C>A	(Likely) benign	1 lab	f3bda47e2e
7:98507870 TRRAP A>C	7	98507870	98507870	A	C	TRRAP	c.1542A>C	NM_001244580.2	NP_001231509.1:p.(Pro514=)	NC_000007.13:g.98507870A>C	(Likely) benign	1 lab	f3bff5c504
6:43581755 POLH A>C	6	43581755	43581755	A	C	POLH	c.1603A>C	NM_006502.3	NP_006493.1:p.(Lys535Gln)	NC_000006.11:g.43581755A>C	VUS	1 lab	f3c74cdbca
8:144295183 GPIHBP1 G>T	8	144295183	144295183	G	T	GPIHBP1	c.41=	NM_178172.6	NP_835466.2:p.(Phe14=)	NC_000008.10:g.144295183G>T	(Likely) benign	1 lab	f3ca0d771c
12:32949242 PKP2 G>GAA	12	32949242	32949252	G	GAA	PKP2	c.2300-12_2300-11dup	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949251_32949252dup	(Likely) benign	1 lab	f3d06515d9
10:102783679 PDZD7 G>A	10	102783679	102783679	G	A	PDZD7	c.367+6C>T	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102783679G>A	(Likely) benign	1 lab	f3d0ba597e
1:6532738 PLEKHG5 G>A	1	6532738	6532738	G	A	PLEKHG5	c.985-56C>T	NM_198681.4	NP_941374.3:p.?	NC_000001.10:g.6532738G>A	(Likely) benign	1 lab	f3d84de7a3
8:19805713 LPL C>T	8	19805713	19805713	C	T	LPL	c.111C>T	NM_000237.3	NP_000228.1:p.(Ile37=)	NC_000008.10:g.19805713C>T	(Likely) benign	1 lab	f3dd47ed3c
2:238289924 COL6A3 C>A	2	238289924	238289924	C	A	COL6A3	c.1531G>T	NM_004369.4	NP_004360.2:p.(Ala511Ser)	NC_000002.11:g.238289924C>A	VUS	1 lab	f3de67b8b0
16:89845197 FANCA G>A	16	89845197	89845197	G	A	FANCA	c.1826+12C>T	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89845197G>A	(Likely) benign	1 lab	f3e243b7cb
9:2717907 KCNV2 G>A	9	2717907	2717907	G	A	KCNV2	c.168G>A	NM_133497.4	NP_598004.1:p.(Glu56=)	NC_000009.11:g.2717907G>A	(Likely) benign	1 lab	f3e5540529
16:46781792 MYLK3 GC>G	16	46781792	46781794	GC	G	MYLK3	c.313del	NM_182493.3	NP_872299.2:p.(Ala105ProfsTer71)	NC_000016.9:g.46781794del	VUS	1 lab	f3e62714b4
3:47887796 DHX30 C>T	3	47887796	47887796	C	T	DHX30	c.1150C>T	NM_001330990.2	NP_001317919.1:p.(Arg384Cys)	NC_000003.11:g.47887796C>T	VUS	1 lab	f3e98ca6f9
8:68105722 CSPP1 A>G	8	68105722	68105722	A	G	CSPP1	c.2304A>G	NM_001291339.2	NP_001278268.1:p.(Ala768=)	NC_000008.10:g.68105722A>G	(Likely) benign	1 lab	f3f0d18510
2:73678054 ALMS1 G>T	2	73678054	73678054	G	T	ALMS1	c.4403G>T	NM_015120.4	NP_055935.4:p.(Gly1468Val)	NC_000002.11:g.73678054G>T	(Likely) benign	1 lab	f3f1db8075
4:114117535 ANK2 C>T	4	114117535	114117535	C	T	ANK2	c.198C>T	NM_001148.6	NP_001139.3:p.(Asn66=)	NC_000004.11:g.114117535C>T	(Likely) benign	1 lab	f3f96216da
6:75864351 COL12A1 A>G	6	75864351	75864351	A	G	COL12A1	c.3444-98T>C	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75864351A>G	(Likely) benign	1 lab	f3fac1d12a
7:30671914 GARS1 G>C	7	30671914	30671914	G	C	GARS1	c.1955G>C	NM_002047.4	NP_002038.2:p.(Gly652Ala)	NC_000007.13:g.30671914G>C	(Likely) pathogenic	1 lab	f3fd5d8b98
2:179642667 TTN A>G	2	179642667	179642667	A	G	TTN	c.4244T>C	NM_001267550.2	NP_001254479.2:p.(Ile1415Thr)	NC_000002.11:g.179642667A>G	VUS	1 lab	f3fec88cf1
1:40776812 COL9A2 C>A	1	40776812	40776812	C	A	COL9A2	c.583G>T	NM_001852.4	NP_001843.1:p.(Ala195Ser)	NC_000001.10:g.40776812C>A	VUS	1 lab	f3ff9d0b37
16:929606 LMF1 C>T	16	929606	929606	C	T	LMF1	c.462G>A	NM_001352018.2	NP_001338947.1:p.(Ala154=)	NC_000016.9:g.929606C>T	(Likely) benign	1 lab	f4010e50bf
1:78392390 NEXN C>T	1	78392390	78392390	C	T	NEXN	c.688-11C>T	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78392390C>T	(Likely) benign	1 lab	f408734c7d
1:156785646 NTRK1 G>T	1	156785646	156785646	G	T	NTRK1	c.9+16G>T	NM_001007792.1	NP_001007793.1:p.?	NC_000001.10:g.156785646G>T	(Likely) benign	1 lab	f40897d451
15:73624463 HCN4 C>T	15	73624463	73624463	C	T	HCN4	c.1371+9G>A	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73624463C>T	(Likely) benign	1 lab	f40c742310
1:156844362 NTRK1 G>A	1	156844362	156844362	G	A	NTRK1	c.1196-1G>A	NM_002529.4	NP_002520.2:p.?	NC_000001.10:g.156844362G>A	(Likely) pathogenic	1 lab	f40f04a19f
2:121742232 GLI2 C>A	2	121742232	121742232	C	A	GLI2	c.1869C>A	NM_001371271.1	NP_001358200.1:p.(Gly623=)	NC_000002.11:g.121742232C>A	(Likely) benign	1 lab	f40f8c1569
11:47369244 MYBPC3 G>A	11	47369244	47369244	G	A	MYBPC3	c.822-13C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369244G>A	(Likely) benign	1 lab	f414a0962e
X:70444467 GJB1 C>T	X	70444467	70444467	C	T	GJB1	c.*58C>T	NM_000166.6	NP_000157.1:p.?	NC_000023.10:g.70444467C>T	(Likely) benign	1 lab	f416db8dfc
X:153492656 OPN1MW2 C>T	X	153492656	153492656	C	T	OPN1MW2	c.410-5C>T	NM_001048181.2	NP_001041646.1:p.?	NC_000023.10:g.153492656C>T	(Likely) benign	1 lab	f41e2e452a
5:127638928 FBN2 G>C	5	127638928	127638928	G	C	FBN2	c.5801-147C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127638928G>C	(Likely) benign	1 lab	f421d1a2c6
7:44153049 AEBP1 G>C	7	44153049	44153049	G	C	AEBP1	c.2809+99G>C	NM_001129.5	NP_001120.3:p.?	NC_000007.13:g.44153049G>C	(Likely) benign	1 lab	f42467148e
6:97344721 NDUFAF4 AG>A	6	97344721	97344722	AG	A	NDUFAF4	c.138del	NM_014165.4	NP_054884.1:p.(Tyr47IlefsTer19)	NC_000006.11:g.97344722del	(Likely) pathogenic	1 lab	f424d0cfb2
2:56108880 EFEMP1 C>T	2	56108880	56108880	C	T	EFEMP1	c.518-11G>A	NM_001039348.3	NP_001034437.1:p.?	NC_000002.11:g.56108880C>T	(Likely) benign	1 lab	f429c2eeaa
2:179447784 TTN G>A	2	179447784	179447784	G	A	TTN	c.65746C>T	NM_001267550.2	NP_001254479.2:p.(Arg21916Trp)	NC_000002.11:g.179447784G>A	VUS	1 lab	f4303e5a55
1:237941986 RYR2 A>G	1	237941986	237941986	A	G	RYR2	c.11796A>G	NM_001035.3	NP_001026.2:p.(Gln3932=)	NC_000001.10:g.237941986A>G	(Likely) benign	1 lab	f431158f44
20:1592358 SIRPB1 C>T	20	1592358	1592358	C	T	SIRPB1	c.78G>A	NM_001135844.4	NP_001129316.1:p.(Gly26=)	NC_000020.10:g.1592358C>T	(Likely) benign	1 lab	f43279b76e
1:237948240 RYR2 GTCCCCA>G	1	237948240	237948247	GTCCCCA	G	RYR2	c.13230_13235del	NM_001035.3	NP_001026.2:p.(Met4412_Pro4413del)	NC_000001.10:g.237948242_237948247del	(Likely) benign	1 lab	f43b0e6bdb
10:126091643 OAT A>T	10	126091643	126091643	A	T	OAT	c.772-19T>A	NM_001322966.2	NP_001309895.1:p.?	NC_000010.10:g.126091643A>T	(Likely) benign	1 lab	f43cb61507
11:47431764 SLC39A13 G>A	11	47431764	47431764	G	A	SLC39A13	c.119G>A	NM_001128225.3	NP_001121697.2:p.(Arg40Gln)	NC_000011.9:g.47431764G>A	(Likely) benign	1 lab	f4407dc723
20:10620372 JAG1 G>A	20	10620372	10620372	G	A	JAG1	c.3431C>T	NM_000214.3	NP_000205.1:p.(Ser1144Phe)	NC_000020.10:g.10620372G>A	VUS	1 lab	f445f749ca
17:7544282 MISSING Ref too long to show for this DEL>T	17	7544282	7620533	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.7544284_7620533del	(Likely) pathogenic	1 lab	f44e1a46e6
9:14307173 NFIB T>A	9	14307173	14307173	T	A	NFIB	c.377A>T	NM_001190737.2	NP_001177666.1:p.(Lys126Ile)	NC_000009.11:g.14307173T>A	VUS	1 lab	f44e48023c
6:56420158 DST C>T	6	56420158	56420158	C	T	DST	c.8764G>A	NM_001144769.5	NP_001138241.1:p.(Val2922Ile)	NC_000006.11:g.56420158C>T	(Likely) benign	1 lab	f457547dbb
15:71507428 THSD4 GC>G	15	71507428	71507432	GC	G	THSD4	c.158del	NM_024817.2	NP_079093.2:p.(Pro53ArgfsTer21)	NC_000015.9:g.71507432del	(Likely) pathogenic	1 lab	f46542bc12
16:50784011 CYLD G>C	16	50784011	50784011	G	C	CYLD	c.402G>C	NM_015247.3	NP_056062.1:p.(Gln134His)	NC_000016.9:g.50784011G>C	VUS	1 lab	f469c482b5
18:28671057 DSC2 T>C	18	28671057	28671057	T	C	DSC2	c.408A>G	NM_004949.5	NP_004940.1:p.(Arg136=)	NC_000018.9:g.28671057T>C	VUS	1 lab	f46baae9da
2:44100927 ABCG8 C>T	2	44100927	44100927	C	T	ABCG8	c.1213C>T	NM_022437.3	NP_071882.1:p.(Arg405Cys)	NC_000002.11:g.44100927C>T	(Likely) pathogenic	1 lab	f46d74daf6
17:33445578 RAD51D C>T	17	33445578	33445578	C	T	RAD51D	c.205G>A	NM_002878.4	NP_002869.3:p.(Ala69Thr)	NC_000017.10:g.33445578C>T	VUS	1 lab	f46e65ba1e
2:215657183 BARD1 A>T	2	215657183	215657183	A	T	BARD1	c.216-14T>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215657183A>T	VUS	1 lab	f46f9c6b7e
16:84070286 SLC38A8 G>A	16	84070286	84070286	G	A	SLC38A8	c.388+21C>T	NM_001080442.3	NP_001073911.1:p.?	NC_000016.9:g.84070286G>A	(Likely) benign	1 lab	f47a39339e
1:68896844 RPE65 C>T	1	68896844	68896844	C	T	RPE65	c.1354G>A	NM_000329.3	NP_000320.1:p.(Val452Ile)	NC_000001.10:g.68896844C>T	VUS	1 lab	f47a5eb835
22:27024359 CRYBA4 C>T	22	27024359	27024359	C	T	CRYBA4	c.408C>T	NM_001886.3	NP_001877.1:p.(Gly136=)	NC_000022.10:g.27024359C>T	VUS	1 lab	f47c99658b
14:23858211 MYH6 C>T	14	23858211	23858211	C	T	MYH6	c.4032G>A	NM_002471.4	NP_002462.2:p.(Leu1344=)	NC_000014.8:g.23858211C>T	(Likely) benign	1 lab	f47dbbd211
10:50103071 WDFY4 C>Alt too long to show for this DUP	10	50103071	50172608	C	Alt too long to show for this DUP	WDFY4	c.7317-2427_8436+509dup	NM_001394531.1	NP_001381460.1:p.?	NC_000010.10:g.50103072_50172608dup	VUS	1 lab	f47e3aa2af
9:122104763 BRINP1 T>Alt too long to show for this DUP	9	122104763	122117327	T	Alt too long to show for this DUP	BRINP1	c.-51+14007_-51+26570dup	NM_014618.3	NP_055433.2:p.?	NC_000009.11:g.122104764_122117327dup	VUS	1 lab	f48044eb2f
12:21369883 SLCO1B1 C>G	12	21369883	21369883	C	G	SLCO1B1	c.1498-170C>G	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21369883C>G	(Likely) benign	1 lab	f483b02576
1:6528318 PLEKHG5 G>A	1	6528318	6528318	G	A	PLEKHG5	c.2578C>T	NM_198681.4	NP_941374.3:p.(Arg860Cys)	NC_000001.10:g.6528318G>A	VUS	1 lab	f4840f49f9
1:236914858 ACTN2 T>C	1	236914858	236914858	T	C	ACTN2	c.1121T>C	NM_001278344.2	NP_001265273.1:p.(Val374Ala)	NC_000001.10:g.236914858T>C	VUS	1 lab	f488cd3372
3:154856014 MME G>T	3	154856014	154856014	G	T	MME	c.844G>T	NM_007289.4	NP_009220.2:p.(Glu282Ter)	NC_000003.11:g.154856014G>T	(Likely) pathogenic	1 lab	f48d830181
22:29121106 CHEK2 C>A	22	29121106	29121106	C	A	CHEK2	c.451G>T	NM_007194.4	NP_009125.1:p.(Gly151Cys)	NC_000022.10:g.29121106C>A	VUS	1 lab	f48e01427f
16:942868 LMF1 G>C	16	942868	942868	G	C	LMF1	c.330+139C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.942868G>C	(Likely) benign	1 lab	f48f49ccaf
11:32456397 WT1 G>A	11	32456397	32456397	G	A	WT1	c.510C>T	NM_024426.6	NP_077744.4:p.(Ser170=)	NC_000011.9:g.32456397G>A	(Likely) benign	1 lab	f48fc9997f
10:121436156 BAG3 G>A	10	121436156	121436156	G	A	BAG3	c.1090G>A	NM_004281.4	NP_004272.2:p.(Val364Met)	NC_000010.10:g.121436156G>A	VUS	1 lab	f4985c6647
14:21868764 CHD8 G>A	14	21868764	21868764	G	A	CHD8	c.4378C>T	NM_001170629.2	NP_001164100.1:p.(Arg1460Ter)	NC_000014.8:g.21868764G>A	(Likely) pathogenic	1 lab	f49aa58a7a
19:11224327 LDLR ACT>A	19	11224327	11224331	ACT	A	LDLR	c.1478_1479del	NM_000527.5	NP_000518.1:p.(Ser493CysfsTer42)	NC_000019.9:g.11224330_11224331del	(Likely) pathogenic	1 lab	f49cb3ae07
2:97845612 ANKRD36 C>G	2	97845612	97845612	C	G	ANKRD36	c.1677C>G	NM_001354587.1	NP_001341516.1:p.(Asp559Glu)	NC_000002.11:g.97845612C>G	(Likely) benign	1 lab	f4a5747377
3:37512606 ITGA9 C>A	3	37512606	37512606	C	A	ITGA9	c.294C>A	NM_002207.3	NP_002198.2:p.(Thr98=)	NC_000003.11:g.37512606C>A	(Likely) benign	1 lab	f4a5dd4d14
6:32497901 HLA-DRB5 C>G	6	32497901	32497901	C	G	HLA-DRB5	c.100+1G>C	NM_002125.4	NP_002116.2:p.?	NC_000006.11:g.32497901C>G	(Likely) benign	1 lab	f4ab8fc004
2:219674423 CYP27A1 C>T	2	219674423	219674423	C	T	CYP27A1	c.379C>T	NM_000784.4	NP_000775.1:p.(Arg127Trp)	NC_000002.11:g.219674423C>T	(Likely) pathogenic	1 lab	f4b56e63e1
2:44078772 ABCG8 C>T	2	44078772	44078772	C	T	ABCG8	c.372C>T	NM_022437.3	NP_071882.1:p.(Gly124=)	NC_000002.11:g.44078772C>T	(Likely) benign	1 lab	f4b65ab65b
2:179648973 TTN T>C	2	179648973	179648973	T	C	TTN	c.2599A>G	NM_001267550.2	NP_001254479.2:p.(Ser867Gly)	NC_000002.11:g.179648973T>C	(Likely) benign	1 lab	f4bb0bfcad
7:81399243 HGF GACATGCTGCAGCAGCAGGGCTGGCAGGAGTTTGGTCACCC>G	7	81399243	81399288	GACATGCTGCAGCAGCAGGGCTGGCAGGAGTTTGGTCACCC	G	HGF	c.5_44del	NM_000601.6	NP_000592.3:p.(Trp2SerfsTer36)	NC_000007.13:g.81399249_81399288del	VUS	1 lab	f4bb358dfc
4:100512138 MTTP C>T	4	100512138	100512138	C	T	MTTP	c.502-254C>T	NM_000253.4	NP_000244.2:p.?	NC_000004.11:g.100512138C>T	(Likely) benign	1 lab	f4bfbaa603
5:177419920 PROP1 G>A	5	177419920	177419920	G	A	PROP1	c.471C>T	NM_006261.5	NP_006252.4:p.(Tyr157=)	NC_000005.9:g.177419920G>A	(Likely) benign	1 lab	f4c56c43a8
2:179584151 TTN C>T	2	179584151	179584151	C	T	TTN	c.23966G>A	NM_001267550.2	NP_001254479.2:p.(Arg7989His)	NC_000002.11:g.179584151C>T	VUS	1 lab	f4cb435bd4
19:11224354 LDLR C>A	19	11224354	11224354	C	A	LDLR	c.1502C>A	NM_000527.5	NP_000518.1:p.(Ala501Glu)	NC_000019.9:g.11224354C>A	(Likely) pathogenic	1 lab	f4d40bfb58
17:39925726 JUP C>T	17	39925726	39925726	C	T	JUP	c.412G>A	NM_002230.4	NP_002221.1:p.(Glu138Lys)	NC_000017.10:g.39925726C>T	VUS	1 lab	f4d426b0d1
15:48734346 FBN1 T>C	15	48734346	48734346	T	C	FBN1	c.6038-303A>G	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48734346T>C	(Likely) benign	1 lab	f4d8ff1c24
19:50720886 MYH14 T>C	19	50720886	50720886	T	C	MYH14	c.420T>C	NM_001145809.2	NP_001139281.1:p.(Leu140=)	NC_000019.9:g.50720886T>C	(Likely) benign	1 lab	f4dce5b14a
X:69308429 MISSING T>Alt too long to show for this DUP	X	69308429	69560571	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.69308430_69560571dup	VUS	1 lab	f4df04458e
4:71064123 MISSING A>Alt too long to show for this DUP	4	71064123	71472643	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.71064124_71472643dup	VUS	1 lab	f4e1d2178d
19:55359531 KIR2DS4 C>T	19	55359531	55359531	C	T	KIR2DS4	c.*306C>T	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359531C>T	(Likely) benign	1 lab	f4e7dae4f3
2:220286272 DES G>A	2	220286272	220286272	G	A	DES	c.1234G>A	NM_001927.4	NP_001918.3:p.(Glu412Lys)	NC_000002.11:g.220286272G>A	VUS	1 lab	f4e98873cd
15:47977974 MISSING T>Alt too long to show for this DUP	15	47977974	48096020	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.47977975_48096020dup	VUS	1 lab	f4ec7d9261
8:19809440 LPL G>A	8	19809440	19809440	G	A	LPL	c.410G>A	NM_000237.3	NP_000228.1:p.(Arg137Gln)	NC_000008.10:g.19809440G>A	(Likely) benign	1 lab	f4f00b52a4
16:3781471 CREBBP A>G	16	3781471	3781471	A	G	CREBBP	c.4894T>C	NM_004380.3	NP_004371.2:p.(Phe1632Leu)	NC_000016.9:g.3781471A>G	(Likely) pathogenic	1 lab	f4f1886d79
12:21370074 SLCO1B1 T>C	12	21370074	21370074	T	C	SLCO1B1	c.1519T>C	NM_006446.5	NP_006437.3:p.(Leu507=)	NC_000012.11:g.21370074T>C	(Likely) benign	1 lab	f4f4c5d504
7:6431655 RAC1 C>G	7	6431655	6431655	C	G	RAC1	c.208C>G	NM_018890.4	NP_061485.1:p.(Leu70Val)	NC_000007.13:g.6431655C>G	(Likely) pathogenic	1 lab	f4f6b315f8
14:76211483 TTLL5 G>A	14	76211483	76211483	G	A	TTLL5	c.1327G>A	NM_015072.5	NP_055887.3:p.(Val443Met)	NC_000014.8:g.76211483G>A	VUS	1 lab	f5042035cf
17:2227672 TSR1 G>C	17	2227672	2227672	G	C	TSR1	c.2237-4C>G	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2227672G>C	(Likely) benign	1 lab	f50883e976
13:95091833 DCT GT>G	13	95091833	95091842	GT	G	DCT	c.*318del	NM_001922.5	NP_001913.2:p.?	NC_000013.10:g.95091842del	(Likely) benign	1 lab	f509d7f8ce
3:195507082 MUC4 G>GCA	3	195507082	195507083	G	GCA	MUC4	c.11368_11369insTG	NM_018406.7	NP_060876.5:p.(Thr3790MetfsTer470)	NC_000003.11:g.195507082_195507083insCA	(Likely) benign	1 lab	f50cd1297a
20:57227178 STX16 C>G	20	57227178	57227178	C	G	STX16	c.116C>G	NM_001001433.3	NP_001001433.1:p.(Ser39Ter)	NC_000020.10:g.57227178C>G	VUS	1 lab	f5115f2a57
X:133512056 PHF6 T>G	X	133512056	133512056	T	G	PHF6	c.160T>G	NM_032458.3	NP_115834.1:p.(Ser54Ala)	NC_000023.10:g.133512056T>G	VUS	1 lab	f515f3a72e
12:122255778 SETD1B C>T	12	122255778	122255778	C	T	SETD1B	c.3386C>T	NM_001353345.2	NP_001340274.1:p.(Ala1129Val)	NC_000012.11:g.122255778C>T	VUS	1 lab	f51cb6cb51
2:68690753 MISSING Ref too long to show for this DEL>T	2	68690753	68743129	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.68690754_68743129del	VUS	1 lab	f520e5aa12
9:34726202 SPATA31F1 A>G	9	34726202	34726202	A	G	SPATA31F1	c.1035T>C	NM_001141917.2	NP_001135389.1:p.(Pro345=)	NC_000009.11:g.34726202A>G	(Likely) benign	1 lab	f522cd9998
16:89998994 TUBB3 A>G	16	89998994	89998994	A	G	TUBB3	c.73A>G	NM_006086.4	NP_006077.2:p.(Ser25Gly)	NC_000016.9:g.89998994A>G	(Likely) pathogenic	1 lab	f523409ccc
5:133944277 SAR1B A>C	5	133944277	133944277	A	C	SAR1B	c.349-84T>G	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944277A>C	(Likely) benign	1 lab	f523ce2b77
16:46772006 MYLK3 G>C	16	46772006	46772006	G	C	MYLK3	c.618C>G	NM_182493.3	NP_872299.2:p.(Pro206=)	NC_000016.9:g.46772006G>C	(Likely) benign	1 lab	f52714ae39
14:102449596 DYNC1H1 T>G	14	102449596	102449596	T	G	DYNC1H1	c.1202T>G	NM_001376.5	NP_001367.2:p.(Leu401Trp)	NC_000014.8:g.102449596T>G	(Likely) pathogenic	1 lab	f52bd4443e
12:21325565 SLCO1B1 T>C	12	21325565	21325565	T	C	SLCO1B1	c.85-19T>C	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21325565T>C	(Likely) benign	1 lab	f52c13e75c
5:110077805 SLC25A46 A>G	5	110077805	110077805	A	G	SLC25A46	c.326+15A>G	NM_138773.4	NP_620128.1:p.?	NC_000005.9:g.110077805A>G	(Likely) benign	1 lab	f53051f48e
X:79980453 BRWD3 T>G	X	79980453	79980453	T	G	BRWD3	c.1500A>C	NM_153252.5	NP_694984.5:p.(Lys500Asn)	NC_000023.10:g.79980453T>G	VUS	1 lab	f532b85a5c
15:58860941 LIPC A>T	15	58860941	58860941	A	T	LIPC	c.1415A>T	NM_000236.3	NP_000227.2:p.(Asp472Val)	NC_000015.9:g.58860941A>T	VUS	1 lab	f5331291db
9:116930051 COL27A1 G>A	9	116930051	116930051	G	A	COL27A1	c.216G>A	NM_032888.4	NP_116277.2:p.(Ser72=)	NC_000009.11:g.116930051G>A	(Likely) benign	1 lab	f533cb9193
7:151859390 KMT2C TC>T	7	151859390	151859391	TC	T	KMT2C	c.11271del	NM_170606.3	NP_733751.2:p.(Ser3758ValfsTer20)	NC_000007.13:g.151859391del	(Likely) pathogenic	1 lab	f53feb9aea
18:24034852 MISSING T>Alt too long to show for this DUP	18	24034852	24438502	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.24034855_24438502dup	(Likely) pathogenic	1 lab	f542365f10
2:21228496 APOB C>T	2	21228496	21228496	C	T	APOB	c.11244G>A	NM_000384.3	NP_000375.3:p.(Thr3748=)	NC_000002.11:g.21228496C>T	(Likely) benign	1 lab	f545d0026f
9:107588497 ABCA1 G>T	9	107588497	107588497	G	T	ABCA1	c.2338-329C>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107588497G>T	(Likely) benign	1 lab	f5460c230e
1:161275943 MPZ C>T	1	161275943	161275943	C	T	MPZ	c.600G>A	NM_000530.8	NP_000521.2:p.(Gly200=)	NC_000001.10:g.161275943C>T	(Likely) benign	1 lab	f547e48a07
9:100616781 FOXE1 C>T	9	100616781	100616781	C	T	FOXE1	c.585C>T	NM_004473.4	NP_004464.2:p.(Ala195=)	NC_000009.11:g.100616781C>T	(Likely) benign	1 lab	f5494b3c1b
2:21246306 APOB G>C	2	21246306	21246306	G	C	APOB	c.2604+91C>G	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21246306G>C	(Likely) benign	1 lab	f556184650
9:4671028 MISSING Ref too long to show for this DEL>T	9	4671028	4904752	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.4671030_4904752del	VUS	1 lab	f55a47fd58
6:7558740 DSP CT>C	6	7558740	7558765	CT	C	DSP	c.422+268del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7558765del	(Likely) benign	1 lab	f55c51acd7
2:1491723 TPO G>A	2	1491723	1491723	G	A	TPO	c.1728G>A	NM_000547.6	NP_000538.3:p.(Ala576=)	NC_000002.11:g.1491723G>A	(Likely) benign	1 lab	f5659949f1
X:70443916 GJB1 T>A	X	70443916	70443916	T	A	GJB1	c.359T>A	NM_000166.6	NP_000157.1:p.(Val120Glu)	NC_000023.10:g.70443916T>A	(Likely) pathogenic	1 lab	f5672b4943
X:13762616 OFD1 G>T	X	13762616	13762616	G	T	OFD1	c.75G>T	NM_001330210.2	NP_001317139.1:p.(Ser25=)	NC_000023.10:g.13762616G>T	(Likely) benign	1 lab	f568eadebb
2:219674330 CYP27A1 T>C	2	219674330	219674330	T	C	CYP27A1	c.286T>C	NM_000784.4	NP_000775.1:p.(Trp96Arg)	NC_000002.11:g.219674330T>C	VUS	1 lab	f572ea7fef
6:17606169 FAM8A1 T>A	6	17606169	17606169	T	A	FAM8A1	c.1022T>A	NM_016255.3	NP_057339.1:p.(Val341Glu)	NC_000006.11:g.17606169T>A	(Likely) benign	1 lab	f575c34976
7:151329220 PRKAG2 G>GC	7	151329220	151329222	G	GC	PRKAG2	c.688dup	NM_016203.4	NP_057287.2:p.(Ala230GlyfsTer43)	NC_000007.13:g.151329222dup	VUS	1 lab	f577b4b5b2
3:148930257 CP A>T	3	148930257	148930257	A	T	CP	c.375T>A	NM_000096.4	NP_000087.2:p.(Thr125=)	NC_000003.11:g.148930257A>T	(Likely) benign	1 lab	f57d8b1d40
2:21258579 APOB G>T	2	21258579	21258579	G	T	APOB	c.695C>A	NM_000384.3	NP_000375.3:p.(Thr232Asn)	NC_000002.11:g.21258579G>T	VUS	1 lab	f582393d16
12:122255469 SETD1B C>T	12	122255469	122255469	C	T	SETD1B	c.3171C>T	NM_001353345.2	NP_001340274.1:p.(Thr1057=)	NC_000012.11:g.122255469C>T	(Likely) benign	1 lab	f5831bfebb
19:11213427 LDLR T>G	19	11213427	11213427	T	G	LDLR	c.278T>G	NM_000527.5	NP_000518.1:p.(Val93Gly)	NC_000019.9:g.11213427T>G	VUS	1 lab	f5872ce25c
3:148858987 HPS3 C>CTTTTTT	3	148858987	148859000	C	CTTTTTT	HPS3	c.884+20_884+25dup	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148858995_148859000dup	(Likely) benign	1 lab	f588ac9690
2:179428265 TTN T>C	2	179428265	179428265	T	C	TTN	c.82594A>G	NM_001267550.2	NP_001254479.2:p.(Thr27532Ala)	NC_000002.11:g.179428265T>C	VUS	1 lab	f58b9e1bb3
2:21258533 APOB G>A	2	21258533	21258533	G	A	APOB	c.741C>T	NM_000384.3	NP_000375.3:p.(Tyr247=)	NC_000002.11:g.21258533G>A	(Likely) benign	1 lab	f5938954b7
19:8651343 ADAMTS10 C>T	19	8651343	8651343	C	T	ADAMTS10	c.2415G>A	NM_030957.4	NP_112219.3:p.(Arg805=)	NC_000019.9:g.8651343C>T	(Likely) benign	1 lab	f59c61cdcf
19:41117754 LTBP4 C>A	19	41117754	41117754	C	A	LTBP4	c.2255-11C>A	NM_001042544.1	NP_001036009.1:p.?	NC_000019.9:g.41117754C>A	(Likely) benign	1 lab	f59c86805b
19:45409987 APOE C>T	19	45409987	45409987	C	T	APOE	c.43+63C>T	NM_000041.4	NP_000032.1:p.?	NC_000019.9:g.45409987C>T	(Likely) benign	1 lab	f5a3048fca
10:95381674 PDE6C G>T	10	95381674	95381674	G	T	PDE6C	c.724-15G>T	NM_006204.4	NP_006195.3:p.?	NC_000010.10:g.95381674G>T	(Likely) benign	1 lab	f5d90313bd
2:219677124 CYP27A1 TCTA>T	2	219677124	219677132	TCTA	T	CYP27A1	c.632_634del	NM_000784.4	NP_000775.1:p.(Tyr211del)	NC_000002.11:g.219677130_219677132del	VUS	1 lab	f5a52e9b4a
12:32949242 PKP2 GAAAA>G	12	32949242	32949252	GAAAA	G	PKP2	c.2300-14_2300-11del	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949249_32949252del	(Likely) benign	1 lab	f5a69ec46e
16:983604 LMF1 GAGGTCATGGAGAA>G	16	983604	983620	GAGGTCATGGAGAA	G	LMF1	c.115+374_115+386del	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.983608_983620del	(Likely) benign	1 lab	f5a6b5e33e
2:48033417 MSH6 TGTC>T	2	48033417	48033422	TGTC	T	MSH6	c.3724_3726del	NM_000179.3	NP_000170.1:p.(Arg1242del)	NC_000002.11:g.48033420_48033422del	(Likely) pathogenic	1 lab	f5a7f5d2f6
12:122257571 SETD1B C>T	12	122257571	122257571	C	T	SETD1B	c.3680C>T	NM_001353345.2	NP_001340274.1:p.(Ser1227Leu)	NC_000012.11:g.122257571C>T	(Likely) benign	1 lab	f5a951ef5c
3:52441348 BAP1 G>A	3	52441348	52441348	G	A	BAP1	c.438-16C>T	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52441348G>A	(Likely) benign	1 lab	f5add002d3
11:117234205 CEP164 G>A	11	117234205	117234205	G	A	CEP164	c.748G>A	NM_014956.5	NP_055771.4:p.(Gly250Ser)	NC_000011.9:g.117234205G>A	(Likely) benign	1 lab	f5bb2e0e76
1:161276160 MPZ G>C	1	161276160	161276160	G	C	MPZ	c.543C>G	NM_000530.8	NP_000521.2:p.(Tyr181Ter)	NC_000001.10:g.161276160G>C	(Likely) pathogenic	1 lab	f5bc750c0c
9:903535 MISSING Ref too long to show for this DEL>G	9	903535	993008	Ref too long to show for this DEL	G	MISSING				NC_000009.11:g.903538_993008del	VUS	1 lab	f5bdfe28a4
1:243437831 SDCCAG8 A>T	1	243437831	243437831	A	T	SDCCAG8	c.-1067-14A>T	NM_001350251.2	NP_001337180.1:p.?	NC_000001.10:g.243437831A>T	(Likely) benign	1 lab	f5bf8bde38
19:57888311 MISSING Ref too long to show for this DEL>A	19	57888311	57910460	Ref too long to show for this DEL	A	MISSING				NC_000019.9:g.57888313_57910460del	VUS	1 lab	f5c1c9b345
17:39913928 JUP C>T	17	39913928	39913928	C	T	JUP	c.1882G>A	NM_002230.4	NP_002221.1:p.(Ala628Thr)	NC_000017.10:g.39913928C>T	VUS	1 lab	f5cbe379a4
2:189855145 COL3A1 A>G	2	189855145	189855145	A	G	COL3A1	c.798+59A>G	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189855145A>G	(Likely) benign	1 lab	f5d31068ed
X:152770209 BGN A>G	X	152770209	152770209	A	G	BGN	c.120A>G	NM_001711.6	NP_001702.1:p.(Glu40=)	NC_000023.10:g.152770209A>G	(Likely) benign	1 lab	f5d4d545d0
8:91017130 DECR1 Ref too long to show for this DEL>A	8	91017130	91021322	Ref too long to show for this DEL	A	DECR1	c.69+3342_69+7533del	NM_001359.2	NP_001350.1:p.?	NC_000008.10:g.91017131_91021322del	VUS	1 lab	f5da94ae2b
2:21258466 APOB A>G	2	21258466	21258466	A	G	APOB	c.808T>C	NM_000384.3	NP_000375.3:p.(Phe270Leu)	NC_000002.11:g.21258466A>G	VUS	1 lab	f5daf5764e
3:129247627 RHO G>A	3	129247627	129247627	G	A	RHO	c.51G>A	NM_000539.3	NP_000530.1:p.(Thr17=)	NC_000003.11:g.129247627G>A	(Likely) benign	1 lab	f5e8af0c5c
12:32777927 FGD4 C>T	12	32777927	32777927	C	T	FGD4	c.528C>T	NM_001304484.2	NP_001291413.1:p.(Ile176=)	NC_000012.11:g.32777927C>T	(Likely) benign	1 lab	f5ecf7e00a
17:11958562 MAP2K4 Ref too long to show for this DEL>T	17	11958562	11972640	Ref too long to show for this DEL	T	MAP2K4	c.218+256_219-12033del	NM_003010.4	NP_003001.1:p.?	NC_000017.10:g.11958564_11972640del	VUS	1 lab	f5f03e8134
6:7577288 DSP CATAA>C	6	7577288	7577293	CATAA	C	DSP	c.2877+15_2877+18del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7577290_7577293del	(Likely) benign	1 lab	f5f05e48ec
20:21213397 KIZ C>T	20	21213397	21213397	C	T	KIZ	c.1467C>T	NM_001352436.2	NP_001339365.1:p.(Phe489=)	NC_000020.10:g.21213397C>T	(Likely) benign	1 lab	f5f0999ce4
17:2977150 MISSING A>Alt too long to show for this DUP	17	2977150	3365850	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.2977151_3365850dup	VUS	1 lab	f5f98cb33b
10:53814229 PRKG1 G>T	10	53814229	53814229	G	T	PRKG1	c.718-15G>T	NM_001098512.3	NP_001091982.1:p.?	NC_000010.10:g.53814229G>T	(Likely) benign	1 lab	f5f9dc338d
17:20370494 MISSING Ref too long to show for this DEL>G	17	20370494	20602246	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.20370495_20602246del	VUS	1 lab	f5fbaa29a8
8:18079491 MISSING C>Alt too long to show for this DUP	8	18079491	18113688	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.18079493_18113688dup	(Likely) pathogenic	1 lab	f5fff210ef
12:125272011 SCARB1 T>A	12	125272011	125272011	T	A	SCARB1	c.1203-8A>T	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125272011T>A	(Likely) benign	1 lab	f60ae2ef5b
15:85400513 ALPK3 G>A	15	85400513	85400513	G	A	ALPK3	c.2544G>A	NM_020778.5	NP_065829.4:p.(Pro848=)	NC_000015.9:g.85400513G>A	VUS	1 lab	f60c237e88
2:203384788 BMPR2 T>TTC	2	203384788	203384789	T	TTC	BMPR2	c.853-22_853-21insTC	NM_001204.7	NP_001195.2:p.?	NC_000002.11:g.203384788_203384789insTC	(Likely) benign	1 lab	f6116987df
12:124274474 DNAH10 A>G	12	124274474	124274474	A	G	DNAH10	c.1438A>G	NM_207437.3	NP_997320.2:p.(Ile480Val)	NC_000012.11:g.124274474A>G	(Likely) benign	1 lab	f61b4fff85
16:88501999 ZNF469 G>A	16	88501999	88501999	G	A	ZNF469	c.8121G>A	NM_001367624.2	NP_001354553.1:p.(Ala2707=)	NC_000016.9:g.88501999G>A	(Likely) benign	1 lab	f61cefa934
19:45411952 APOE G>A	19	45411952	45411952	G	A	APOE	c.477G>A	NM_001302688.2	NP_001289617.1:p.(Leu159=)	NC_000019.9:g.45411952G>A	(Likely) benign	1 lab	f61e866967
11:47358635 MYBPC3 T>C	11	47358635	47358635	T	C	MYBPC3	c.2602+307A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47358635T>C	VUS	1 lab	f61f38d484
7:81603871 CACNA2D1 G>GAAA	7	81603871	81603880	G	GAAA	CACNA2D1	c.1956-6_1956-4dup	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81603878_81603880dup	(Likely) benign	1 lab	f61f52e1ed
19:50831660 KCNC3 T>C	19	50831660	50831660	T	C	KCNC3	c.680A>G	NM_004977.3	NP_004968.2:p.(Glu227Gly)	NC_000019.9:g.50831660T>C	VUS	1 lab	f623df2577
11:10820663 EIF4G2 T>TA	11	10820663	10820680	T	TA	EIF4G2	c.2537-4dup	NM_001172705.1	NP_001166176.1:p.?	NC_000011.9:g.10820680dup	(Likely) benign	1 lab	f62722bbd4
6:87765650 MISSING Ref too long to show for this DEL>A	6	87765650	88479966	Ref too long to show for this DEL	A	MISSING				NC_000006.11:g.87765651_88479966del	(Likely) pathogenic	1 lab	f6288885f1
12:124371684 DNAH10 C>T	12	124371684	124371684	C	T	DNAH10	c.8470-5C>T	NM_207437.3	NP_997320.2:p.?	NC_000012.11:g.124371684C>T	(Likely) benign	1 lab	f629349151
22:22989571 GGTLC2 T>C	22	22989571	22989571	T	C	GGTLC2	c.423T>C	NM_001282879.1	NP_001269808.1:p.(Cys141=)	NC_000022.10:g.22989571T>C	(Likely) benign	1 lab	f62af48ab6
2:179415785 TTN G>A	2	179415785	179415785	G	A	TTN	c.91473C>T	NM_001267550.2	NP_001254479.2:p.(Arg30491=)	NC_000002.11:g.179415785G>A	(Likely) benign	1 lab	f62b43736f
4:113506885 ZGRF1 C>A	4	113506885	113506885	C	A	ZGRF1	c.3917-4G>T	NM_018392.5	NP_060862.3:p.?	NC_000004.11:g.113506885C>A	(Likely) benign	1 lab	f63541d5b1
7:92147527 PEX1 T>C	7	92147527	92147527	T	C	PEX1	c.400A>G	NM_000466.3	NP_000457.1:p.(Ile134Val)	NC_000007.13:g.92147527T>C	(Likely) benign	1 lab	f6367adb93
1:236894326 ACTN2 G>A	1	236894326	236894326	G	A	ACTN2	c.616-207G>A	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236894326G>A	(Likely) benign	1 lab	f63a620945
12:111357015 MYL2 C>T	12	111357015	111357015	C	T	MYL2	c.4-18G>A	NM_000432.4	NP_000423.2:p.?	NC_000012.11:g.111357015C>T	(Likely) benign	1 lab	f63f69c83d
11:47372802 MYBPC3 C>A	11	47372802	47372802	C	A	MYBPC3	c.280G>T	NM_000256.3	NP_000247.2:p.(Val94Phe)	NC_000011.9:g.47372802C>A	VUS	1 lab	f64134b65e
5:90663541 MISSING Ref too long to show for this DEL>A	5	90663541	90696946	Ref too long to show for this DEL	A	MISSING				NC_000005.9:g.90663545_90696946del	VUS	1 lab	f6427c8d4c
20:61041593 GATA5 G>A	20	61041593	61041593	G	A	GATA5	c.714C>T	NM_080473.5	NP_536721.1:p.(Arg238=)	NC_000020.10:g.61041593G>A	(Likely) benign	1 lab	f6477eb039
20:21224886 KIZ T>C	20	21224886	21224886	T	C	KIZ	c.1575T>C	NM_001163022.3	NP_001156494.1:p.(His525=)	NC_000020.10:g.21224886T>C	(Likely) benign	1 lab	f648485e30
8:121211762 COL14A1 A>G	8	121211762	121211762	A	G	COL14A1	c.834A>G	NM_021110.4	NP_066933.1:p.(Pro278=)	NC_000008.10:g.121211762A>G	(Likely) benign	1 lab	f649b61eb5
6:121768736 GJA1 A>G	6	121768736	121768736	A	G	GJA1	c.743A>G	NM_000165.5	NP_000156.1:p.(His248Arg)	NC_000006.11:g.121768736A>G	VUS	1 lab	f64b5cd5a9
1:236899916 ACTN2 C>G	1	236899916	236899916	C	G	ACTN2	c.784-506C>G	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236899916C>G	(Likely) benign	1 lab	f64bf58ca5
8:134125650 TG C>CT	8	134125650	134125661	C	CT	TG	c.7573-5dup	NM_003235.5	NP_003226.4:p.?	NC_000008.10:g.134125661dup	(Likely) benign	1 lab	f64ee2e44f
17:45299139 MYL4 C>T	17	45299139	45299139	C	T	MYL4	c.405C>T	NM_001002841.2	NP_001002841.1:p.(Phe135=)	NC_000017.10:g.45299139C>T	(Likely) benign	1 lab	f656578ce3
X:41708926 CASK Ref too long to show for this DEL>G	X	41708926	41711315	Ref too long to show for this DEL	G	CASK	c.172+1053_172+3441del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41708927_41711315del	VUS	1 lab	f6574806a1
4:135040294 MISSING C>Alt too long to show for this DUP	4	135040294	135192975	C	Alt too long to show for this DUP	MISSING				NC_000004.11:g.135040296_135192975dup	VUS	1 lab	f65b0cc5df
16:56996104 CETP C>A	16	56996104	56996104	C	A	CETP	c.118+95C>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996104C>A	(Likely) benign	1 lab	f65da9322b
7:73477690 ELN G>T	7	73477690	73477690	G	T	ELN	c.1909G>T	NM_000501.4	NP_000492.2:p.(Ala637Ser)	NC_000007.13:g.73477690G>T	(Likely) benign	1 lab	f65f03d17d
11:121466411 SORL1 G>T	11	121466411	121466411	G	T	SORL1	c.4449G>T	NM_003105.6	NP_003096.2:p.(Thr1483=)	NC_000011.9:g.121466411G>T	(Likely) benign	1 lab	f660d09314
1:6533303 PLEKHG5 C>T	1	6533303	6533303	C	T	PLEKHG5	c.1002+8G>A	NM_001265593.1	NP_001252522.1:p.?	NC_000001.10:g.6533303C>T	(Likely) benign	1 lab	f6653a6897
17:1587858 PRPF8 C>G	17	1587858	1587858	C	G	PRPF8	c.8G>C	NM_006445.4	NP_006436.3:p.(Gly3Ala)	NC_000017.10:g.1587858C>G	VUS	1 lab	f66625ad0a
3:9786079 BRPF1 C>T	3	9786079	9786079	C	T	BRPF1	c.2807C>T	NM_001003694.2	NP_001003694.1:p.(Pro936Leu)	NC_000003.11:g.9786079C>T	VUS	1 lab	f666dfa759
15:48740661 FBN1 C>T	15	48740661	48740661	C	T	FBN1	c.5671+304G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48740661C>T	(Likely) benign	1 lab	f66a2a4eb2
5:90059213 ADGRV1 G>A	5	90059213	90059213	G	A	ADGRV1	c.12212G>A	NM_032119.4	NP_115495.3:p.(Arg4071Gln)	NC_000005.9:g.90059213G>A	(Likely) benign	1 lab	f67038608e
19:11202678 LDLR A>G	19	11202678	11202678	A	G	LDLR	c.67+2387A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11202678A>G	(Likely) benign	1 lab	f6733dfa69
8:19818458 LPL G>A	8	19818458	19818458	G	A	LPL	c.1186G>A	NM_000237.3	NP_000228.1:p.(Glu396Lys)	NC_000008.10:g.19818458G>A	VUS	1 lab	f67a88e251
Y:2275952 DHRSX Ref too long to show for this DEL>G	Y	2275952	2375278	Ref too long to show for this DEL	G	DHRSX	c.110-31933_286+50833del	NM_145177.3	NP_660160.2:p.?	NC_000023.10:g.2275953_2375278del	VUS	1 lab	f682d1010e
6:123580785 TRDN A>C	6	123580785	123580785	A	C	TRDN	c.1854T>G	NM_006073.4	NP_006064.2:p.(Ser618=)	NC_000006.11:g.123580785A>C	(Likely) benign	1 lab	f6850d8612
12:125299528 SCARB1 G>T	12	125299528	125299528	G	T	SCARB1	c.417C>A	NM_001367981.1	NP_001354910.1:p.(Ile139=)	NC_000012.11:g.125299528G>T	(Likely) benign	1 lab	f68bf0fccb
11:121476103 SORL1 T>G	11	121476103	121476103	T	G	SORL1	c.4779-8T>G	NM_003105.6	NP_003096.2:p.?	NC_000011.9:g.121476103T>G	(Likely) benign	1 lab	f68c258aaf
15:85400670 ALPK3 G>A	15	85400670	85400670	G	A	ALPK3	c.2701G>A	NM_020778.5	NP_065829.4:p.(Glu901Lys)	NC_000015.9:g.85400670G>A	VUS	1 lab	f69376987f
5:13841160 DNAH5 A>AT	5	13841160	13841167	A	AT	DNAH5	c.5563dup	NM_001369.3	NP_001360.1:p.(Ile1855AsnfsTer6)	NC_000005.9:g.13841167dup	(Likely) pathogenic	1 lab	f6a12931fa
13:94938734 GPC6 G>C	13	94938734	94938734	G	C	GPC6	c.1008+1G>C	NM_005708.5	NP_005699.1:p.?	NC_000013.10:g.94938734G>C	(Likely) pathogenic	1 lab	f6a13eb7ea
11:47306630 MADD C>T	11	47306630	47306630	C	T	MADD	c.2296C>T	NM_001376576.1	NP_001363505.1:p.(Arg766Ter)	NC_000011.9:g.47306630C>T	(Likely) benign	1 lab	f6a3c76029
11:47371814 MYBPC3 C>T	11	47371814	47371814	C	T	MYBPC3	c.407-151G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371814C>T	(Likely) benign	1 lab	f6a4ea11ac
21:47423321 COL6A1 G>A	21	47423321	47423321	G	A	COL6A1	c.2481G>A	NM_001848.3	NP_001839.2:p.(Pro827=)	NC_000021.8:g.47423321G>A	VUS	1 lab	f6ac19ebbf
X:38262951 OTC C>T	X	38262951	38262951	C	T	OTC	c.621C>T	NM_000531.6	NP_000522.3:p.(Ser207=)	NC_000023.10:g.38262951C>T	(Likely) benign	1 lab	f6b0157613
9:13942276 MISSING Ref too long to show for this DEL>T	9	13942276	14067396	Ref too long to show for this DEL	T	MISSING				NC_000009.11:g.13942278_14067396del	VUS	1 lab	f6b1f31c3f
X:118604004 SLC25A5 C>A	X	118604004	118604004	C	A	SLC25A5	c.492C>A	NM_001152.5	NP_001143.2:p.(Ile164=)	NC_000023.10:g.118604004C>A	(Likely) benign	1 lab	f6b20e7cf9
X:70443732 GJB1 G>T	X	70443732	70443732	G	T	GJB1	c.175G>T	NM_000166.6	NP_000157.1:p.(Gly59Cys)	NC_000023.10:g.70443732G>T	(Likely) pathogenic	1 lab	f6b3c9dd3a
16:57007192 CETP T>C	16	57007192	57007192	T	C	CETP	c.751-51T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57007192T>C	(Likely) benign	1 lab	f6b48edfe4
X:70444024 GJB1 T>G	X	70444024	70444024	T	G	GJB1	c.467T>G	NM_000166.6	NP_000157.1:p.(Leu156Arg)	NC_000023.10:g.70444024T>G	(Likely) pathogenic	1 lab	f6b85accf9
4:100515934 MTTP T>C	4	100515934	100515934	T	C	MTTP	c.803T>C	NM_000253.4	NP_000244.2:p.(Met268Thr)	NC_000004.11:g.100515934T>C	(Likely) benign	1 lab	f6bd5188da
15:31320621 TRPM1 G>A	15	31320621	31320621	G	A	TRPM1	c.3258C>T	NM_001252020.2	NP_001238949.1:p.(Pro1086=)	NC_000015.9:g.31320621G>A	(Likely) benign	1 lab	f6be4d03f9
1:202565948 SYT2 G>A	1	202565948	202565948	G	A	SYT2	c.1197C>T	NM_001136504.1	NP_001129976.1:p.(Ile399=)	NC_000001.10:g.202565948G>A	(Likely) benign	1 lab	f6c22e6d2b
2:21235132 APOB T>A	2	21235132	21235132	T	A	APOB	c.4608A>T	NM_000384.3	NP_000375.3:p.(Arg1536Ser)	NC_000002.11:g.21235132T>A	VUS	1 lab	f6c345a57b
2:179596044 TTN GTAAT>G	2	179596044	179596048	GTAAT	G	TTN	c.17445_17448del	NM_001267550.2	NP_001254479.2:p.(Leu5816SerfsTer3)	NC_000002.11:g.179596045_179596048del	(Likely) benign	1 lab	f6c376dadc
7:94037554 COL1A2 T>G	7	94037554	94037554	T	G	COL1A2	c.693+6T>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94037554T>G	(Likely) pathogenic	1 lab	f6c774848a
17:78055459 CCDC40 G>GAC	17	78055459	78055461	G	GAC	CCDC40	c.1678_1679dup	NM_017950.4	NP_060420.2:p.(Glu561ArgfsTer14)	NC_000017.10:g.78055460_78055461dup	(Likely) pathogenic	1 lab	f6c7e19896
12:22059076 ABCC9 T>C	12	22059076	22059076	T	C	ABCC9	c.1602A>G	NM_020297.4	NP_064693.2:p.(Leu534=)	NC_000012.11:g.22059076T>C	(Likely) benign	1 lab	f6cae788e6
X:24091291 EIF2S3 C>T	X	24091291	24091291	C	T	EIF2S3	c.1266C>T	NM_001415.4	NP_001406.1:p.(Ala422=)	NC_000023.10:g.24091291C>T	(Likely) benign	1 lab	f6d534a4c7
3:14166691 TMEM43 A>T	3	14166691	14166691	A	T	TMEM43	c.-3A>T	NM_024334.3	NP_077310.1:p.?	NC_000003.11:g.14166691A>T	(Likely) benign	1 lab	f6d7214a5c
17:37822247 TCAP G>A	17	37822247	37822247	G	A	TCAP	c.389G>A	NM_003673.4	NP_003664.1:p.(Arg130His)	NC_000017.10:g.37822247G>A	VUS	1 lab	f6d7edb362
3:58062997 FLNB G>A	3	58062997	58062997	G	A	FLNB	c.517G>A	NM_001164317.2	NP_001157789.1:p.(Ala173Thr)	NC_000003.11:g.58062997G>A	(Likely) pathogenic	1 lab	f6d851ed09
8:1882056 ARHGEF10 C>T	8	1882056	1882056	C	T	ARHGEF10	c.3242C>T	NM_001308153.2	NP_001295082.1:p.(Ala1081Val)	NC_000008.10:g.1882056C>T	VUS	1 lab	f6d8559c31
2:179594264 TTN G>A	2	179594264	179594264	G	A	TTN	c.18619C>T	NM_001267550.2	NP_001254479.2:p.(Pro6207Ser)	NC_000002.11:g.179594264G>A	VUS	1 lab	f6d96c7d16
2:212615425 ERBB4 T>C	2	212615425	212615425	T	C	ERBB4	c.561A>G	NM_005235.3	NP_005226.1:p.(Gly187=)	NC_000002.11:g.212615425T>C	(Likely) benign	1 lab	f6dc520f23
19:1430270 DAZAP1 A>C	19	1430270	1430270	A	C	DAZAP1	c.780A>C	NM_170711.3	NP_733829.1:p.(Pro260=)	NC_000019.9:g.1430270A>C	(Likely) benign	1 lab	fa5aa11fe6
2:220149521 DNAJB2 C>T	2	220149521	220149521	C	T	DNAJB2	c.787C>T	NM_006736.6	NP_006727.2:p.(Leu263=)	NC_000002.11:g.220149521C>T	(Likely) benign	1 lab	f6e35f6491
16:57003146 CETP T>C	16	57003146	57003146	T	C	CETP	c.234-152T>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003146T>C	(Likely) benign	1 lab	f6e82f7c1f
2:47643405 MSH2 A>G	2	47643405	47643405	A	G	MSH2	c.943-30A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47643405A>G	(Likely) benign	1 lab	f6e9e7b418
15:73615370 HCN4 G>A	15	73615370	73615370	G	A	HCN4	c.3064C>T	NM_005477.3	NP_005468.1:p.(Arg1022Ter)	NC_000015.9:g.73615370G>A	VUS	1 lab	f6eb864db4
11:31811358 PAX6 G>A	11	31811358	31811358	G	A	PAX6	c.834C>T	NM_001368929.2	NP_001355858.1:p.(Tyr278=)	NC_000011.9:g.31811358G>A	(Likely) benign	1 lab	f6ec4412e6
9:95482858 BICD2 T>C	9	95482858	95482858	T	C	BICD2	c.786A>G	NM_001003800.2	NP_001003800.1:p.(Ser262=)	NC_000009.11:g.95482858T>C	(Likely) benign	1 lab	f6ec79c7e1
11:6645895 DCHS1 A>G	11	6645895	6645895	A	G	DCHS1	c.7285+66T>C	NM_003737.4	NP_003728.1:p.?	NC_000011.9:g.6645895A>G	(Likely) benign	1 lab	f6ee1a2d3f
10:112557054 RBM20 AAT>A	10	112557054	112557069	AAT	A	RBM20	c.1528-198_1528-197del	NM_001134363.3	NP_001127835.2:p.?	NC_000010.10:g.112557068_112557069del	(Likely) benign	1 lab	f6f0a01edd
5:138265000 CTNNA1 C>T	5	138265000	138265000	C	T	CTNNA1	c.1965C>T	NM_001903.5	NP_001894.2:p.(Ser655=)	NC_000005.9:g.138265000C>T	(Likely) benign	1 lab	f6f26bb58c
16:56996645 CETP GCC>G	16	56996645	56996649	GCC	G	CETP	c.119-274_119-273del	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.56996648_56996649del	(Likely) benign	1 lab	f6f35e9549
4:70074205 UGT2B11 GA>G	4	70074205	70074214	GA	G	UGT2B11	c.871-6del	NM_001073.3	NP_001064.1:p.?	NC_000004.11:g.70074214del	(Likely) benign	1 lab	f6f47e244d
15:22752397 MISSING Ref too long to show for this DEL>C	15	22752397	23283811	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.22752399_23283811del	(Likely) pathogenic	1 lab	f6f5cbe863
X:130412013 IGSF1 CA>C	X	130412013	130412016	CA	C	IGSF1	c.2151del	NM_001170961.2	NP_001164432.1:p.(Phe717LeufsTer61)	NC_000023.10:g.130412016del	(Likely) pathogenic	1 lab	f6f73fa0bd
14:105416307 AHNAK2 C>T	14	105416307	105416307	C	T	AHNAK2	c.5481G>A	NM_138420.4	NP_612429.2:p.(Lys1827=)	NC_000014.8:g.105416307C>T	(Likely) benign	1 lab	f6fb35f74c
16:56995973 CETP A>T	16	56995973	56995973	A	T	CETP	c.82A>T	NM_000078.3	NP_000069.2:p.(Ile28Phe)	NC_000016.9:g.56995973A>T	VUS	1 lab	f6fe473b91
16:929724 LMF1 G>A	16	929724	929724	G	A	LMF1	c.344C>T	NM_001352018.2	NP_001338947.1:p.(Pro115Leu)	NC_000016.9:g.929724G>A	VUS	1 lab	f705eb63ba
1:153907278 DENND4B CCTG>C	1	153907278	153907305	CCTG	C	DENND4B	c.2728_2730del	NM_014856.3	NP_055671.2:p.(Gln910del)	NC_000001.10:g.153907303_153907305del	(Likely) benign	1 lab	f70ed32a04
14:80487497 MISSING Ref too long to show for this DEL>A	14	80487497	86184651	Ref too long to show for this DEL	A	MISSING				NC_000014.8:g.80487498_86184651del	(Likely) pathogenic	1 lab	f712c75877
11:2594076 KCNQ1 G>C	11	2594076	2594076	G	C	KCNQ1	c.781G>C	NM_000218.3	NP_000209.2:p.(Glu261Gln)	NC_000011.9:g.2594076G>C	(Likely) pathogenic	1 lab	f7192d432d
21:27347536 APP G>A	21	27347536	27347536	G	A	APP	c.1305C>T	NM_000484.4	NP_000475.1:p.(Phe435=)	NC_000021.8:g.27347536G>A	(Likely) benign	1 lab	f71c0c7255
2:21231083 APOB T>C	2	21231083	21231083	T	C	APOB	c.8657A>G	NM_000384.3	NP_000375.3:p.(Asn2886Ser)	NC_000002.11:g.21231083T>C	(Likely) benign	1 lab	f7228b0de5
2:179475789 TTN C>T	2	179475789	179475789	C	T	TTN	c.51067G>A	NM_001267550.2	NP_001254479.2:p.(Gly17023Arg)	NC_000002.11:g.179475789C>T	VUS	1 lab	f7259907ee
12:21327652 SLCO1B1 T>TAAA	12	21327652	21327666	T	TAAA	SLCO1B1	c.359+21_359+23dup	NM_006446.5	NP_006437.3:p.?	NC_000012.11:g.21327664_21327666dup	(Likely) benign	1 lab	f728b468dc
20:33591030 TRPC4AP C>T	20	33591030	33591030	C	T	TRPC4AP	c.2313G>A	NM_015638.3	NP_056453.1:p.(Pro771=)	NC_000020.10:g.33591030C>T	(Likely) benign	1 lab	f72b61d735
2:179422503 TTN G>A	2	179422503	179422503	G	A	TTN	c.87578C>T	NM_001267550.2	NP_001254479.2:p.(Ala29193Val)	NC_000002.11:g.179422503G>A	VUS	1 lab	f73129b549
16:57017474 CETP G>A	16	57017474	57017474	G	A	CETP	c.1408-30G>A	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57017474G>A	(Likely) benign	1 lab	f731654fa2
9:136433569 ADAMTSL2 C>T	9	136433569	136433569	C	T	ADAMTSL2	c.2049C>T	NM_001145320.2	NP_001138792.1:p.(Pro683=)	NC_000009.11:g.136433569C>T	(Likely) benign	1 lab	f73796caf6
11:1780334 CTSD G>A	11	1780334	1780334	G	A	CTSD	c.353-17C>T	NM_001909.5	NP_001900.1:p.?	NC_000011.9:g.1780334G>A	(Likely) benign	1 lab	f73a6fc85a
6:65767633 EYS G>GAA	6	65767633	65767634	G	GAA	EYS	c.2024-14_2024-13insTT	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.65767633_65767634insAA	(Likely) benign	1 lab	f73b2bc7fc
19:50912051 POLD1 C>T	19	50912051	50912051	C	T	POLD1	c.1785C>T	NM_001256849.1	NP_001243778.1:p.(Asp595=)	NC_000019.9:g.50912051C>T	(Likely) benign	1 lab	f73bb098a1
17:48266160 COL1A1 CAG>C	17	48266160	48266177	CAG	C	COL1A1	c.3046-6_3046-5del	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48266176_48266177del	(Likely) benign	1 lab	f74c873ab5
7:8633331 NXPH1 Ref too long to show for this DEL>C	7	8633331	8670834	Ref too long to show for this DEL	C	NXPH1	c.55-157306_55-119804del	NM_152745.3	NP_689958.1:p.?	NC_000007.13:g.8633332_8670834del	VUS	1 lab	f74df9e3ce
12:122255741 SETD1B T>C	12	122255741	122255741	T	C	SETD1B	c.3349T>C	NM_001353345.2	NP_001340274.1:p.(Ser1117Pro)	NC_000012.11:g.122255741T>C	VUS	1 lab	f7505e8018
1:23110867 EPHB2 C>T	1	23110867	23110867	C	T	EPHB2	c.127-18C>T	NM_017449.5	NP_059145.2:p.?	NC_000001.10:g.23110867C>T	(Likely) benign	1 lab	f75f0b233e
21:38287560 HLCS Ref too long to show for this DEL>T	21	38287560	38305925	Ref too long to show for this DEL	T	HLCS	c.1437+2829_1620+14990del	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38287566_38305925del	VUS	1 lab	f760dfe169
3:192414835 MISSING C>Alt too long to show for this DUP	3	192414835	192570559	C	Alt too long to show for this DUP	MISSING				NC_000003.11:g.192414836_192570559dup	VUS	1 lab	f762b2ad5e
1:218578665 TGFB2 G>A	1	218578665	218578665	G	A	TGFB2	c.585G>A	NM_001135599.4	NP_001129071.1:p.(Glu195=)	NC_000001.10:g.218578665G>A	(Likely) benign	1 lab	f769c5018c
17:39977192 FKBP10 C>T	17	39977192	39977192	C	T	FKBP10	c.1257-7C>T	NM_021939.4	NP_068758.3:p.?	NC_000017.10:g.39977192C>T	(Likely) benign	1 lab	f76bfba6ef
5:127616122 FBN2 G>C	5	127616122	127616122	G	C	FBN2	c.7013-113C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127616122G>C	(Likely) benign	1 lab	f76f02b4cb
12:112036797 ATXN2 C>T	12	112036797	112036797	C	T	ATXN2	c.42G>A	NM_002973.4	NP_002964.4:p.(Gln14=)	NC_000012.11:g.112036797C>T	(Likely) benign	1 lab	f773afee5c
4:114279627 ANK2 A>C	4	114279627	114279627	A	C	ANK2	c.9853A>C	NM_001148.6	NP_001139.3:p.(Ile3285Leu)	NC_000004.11:g.114279627A>C	VUS	1 lab	f77427ab58
3:58109430 FLNB TAAA>T	3	58109430	58109453	TAAA	T	FLNB	c.3724+34_3724+36del	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58109451_58109453del	(Likely) benign	1 lab	f774f0b21e
2:148762384 MISSING Ref too long to show for this DEL>T	2	148762384	148840128	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.148762385_148840128del	(Likely) pathogenic	1 lab	f77627273b
2:179542939 TTN T>C	2	179542939	179542939	T	C	TTN	c.30179-4A>G	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179542939T>C	(Likely) benign	1 lab	f7845e7d16
1:25880531 LDLRAP1 C>T	1	25880531	25880531	C	T	LDLRAP1	c.207C>T	NM_015627.3	NP_056442.2:p.(Ala69=)	NC_000001.10:g.25880531C>T	(Likely) benign	1 lab	f78505bc0b
6:84540994 MISSING G>Alt too long to show for this DUP	6	84540994	84617941	G	Alt too long to show for this DUP	MISSING				NC_000006.11:g.84540996_84617941dup	VUS	1 lab	f792ba4984
1:181727947 CACNA1E C>T	1	181727947	181727947	C	T	CACNA1E	c.4548C>T	NM_000721.4	NP_000712.2:p.(Ala1516=)	NC_000001.10:g.181727947C>T	(Likely) benign	1 lab	f79b0939b9
2:188472034 MISSING T>Alt too long to show for this DUP	2	188472034	189032245	T	Alt too long to show for this DUP	MISSING				NC_000002.11:g.188472036_189032245dup	VUS	1 lab	f79b8ef9bb
1:45795028 MUTYH G>A	1	45795028	45795028	G	A	MUTYH	c.1600C>T	NM_001128425.2	NP_001121897.1:p.(Arg534Trp)	NC_000001.10:g.45795028G>A	(Likely) benign	1 lab	f79c8e3828
6:31324507 HLA-B T>C	6	31324507	31324507	T	C	HLA-B	c.301A>G	NM_005514.8	NP_005505.2:p.(Ser101Gly)	NC_000006.11:g.31324507T>C	(Likely) benign	1 lab	f79cae050f
12:14018792 GRIN2B T>G	12	14018792	14018792	T	G	GRIN2B	c.351A>C	NM_000834.5	NP_000825.2:p.(Ala117=)	NC_000012.11:g.14018792T>G	(Likely) benign	1 lab	f79efc095d
11:47362926 MYBPC3 C>CT	11	47362926	47362935	C	CT	MYBPC3	c.1791-132dup	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362935dup	(Likely) benign	1 lab	f7a50046cc
2:25462076 DNMT3A A>G	2	25462076	25462076	A	G	DNMT3A	c.2331T>C	NM_022552.5	NP_072046.2:p.(Pro777=)	NC_000002.11:g.25462076A>G	(Likely) benign	1 lab	f7a7c737af
16:88792047 PIEZO1 A>G	16	88792047	88792047	A	G	PIEZO1	c.4014T>C	NM_001142864.4	NP_001136336.2:p.(Phe1338=)	NC_000016.9:g.88792047A>G	(Likely) benign	1 lab	f7ae73c793
2:189943779 COL5A2 G>A	2	189943779	189943779	G	A	COL5A2	c.1005+10C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189943779G>A	(Likely) benign	1 lab	f7b4c415eb
20:57234687 STX16 C>T	20	57234687	57234687	C	T	STX16	c.141C>T	NM_001001433.3	NP_001001433.1:p.(Asp47=)	NC_000020.10:g.57234687C>T	(Likely) benign	1 lab	f7b6491e99
17:33446586 RAD51D A>G	17	33446586	33446586	A	G	RAD51D	c.47T>C	NM_002878.4	NP_002869.3:p.(Met16Thr)	NC_000017.10:g.33446586A>G	VUS	1 lab	f7b6f7c135
12:2742893 CACNA1C G>A	12	2742893	2742893	G	A	CACNA1C	c.3972+15G>A	NM_199460.4	NP_955630.3:p.?	NC_000012.11:g.2742893G>A	(Likely) benign	1 lab	f7b96619ec
5:140745478 PCDHGA5 C>T	5	140745478	140745478	C	T	PCDHGA5	c.1581C>T	NM_018918.3	NP_061741.1:p.(Asp527=)	NC_000005.9:g.140745478C>T	(Likely) benign	1 lab	f7be8c77c8
X:119590637 LAMP2 A>T	X	119590637	119590637	A	T	LAMP2	c.65-13T>A	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119590637A>T	(Likely) benign	1 lab	f7cc3a70fa
1:156843654 NTRK1 G>A	1	156843654	156843654	G	A	NTRK1	c.1080G>A	NM_002529.4	NP_002520.2:p.(Thr360=)	NC_000001.10:g.156843654G>A	(Likely) benign	1 lab	f7d5aa1094
11:112832391 NCAM1 ATT>A	11	112832391	112832405	ATT	A	NCAM1	c.52+18_52+19del	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.112832404_112832405del	(Likely) benign	1 lab	f7d7546e37
4:47878948 MISSING Ref too long to show for this DEL>A	4	47878948	48025643	Ref too long to show for this DEL	A	MISSING				NC_000004.11:g.47878949_48025643del	VUS	1 lab	f7dc39060d
1:25889627 LDLRAP1 C>T	1	25889627	25889627	C	T	LDLRAP1	c.599C>T	NM_015627.3	NP_056442.2:p.(Thr200Ile)	NC_000001.10:g.25889627C>T	VUS	1 lab	f7dcaacbb0
11:47363927 MYBPC3 G>A	11	47363927	47363927	G	A	MYBPC3	c.1624+202C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363927G>A	(Likely) benign	1 lab	fe65628695
19:10941671 DNM2 C>T	19	10941671	10941671	C	T	DNM2	c.2561C>T	NM_001005360.3	NP_001005360.1:p.(Ala854Val)	NC_000019.9:g.10941671C>T	VUS	1 lab	f7e6c91ac7
18:10748603 PIEZO2 A>T	18	10748603	10748603	A	T	PIEZO2	c.4215T>A	NM_022068.4	NP_071351.2:p.(Leu1405=)	NC_000018.9:g.10748603A>T	(Likely) benign	1 lab	f7e70148a0
18:25532324 CDH2 C>G	18	25532324	25532324	C	G	CDH2	c.2515-1G>C	NM_001792.5	NP_001783.2:p.?	NC_000018.9:g.25532324C>G	VUS	1 lab	f7ee345455
15:73622145 HCN4 G>A	15	73622145	73622145	G	A	HCN4	c.1372-13C>T	NM_005477.3	NP_005468.1:p.?	NC_000015.9:g.73622145G>A	(Likely) benign	1 lab	f7ef668b25
2:238257353 COL6A3 A>G	2	238257353	238257353	A	G	COL6A3	c.6880-47T>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238257353A>G	(Likely) benign	1 lab	f7ef896697
13:32931894 BRCA2 G>A	13	32931894	32931894	G	A	BRCA2	c.7633G>A	NM_000059.4	NP_000050.3:p.(Val2545Ile)	NC_000013.10:g.32931894G>A	(Likely) benign	1 lab	f7f1347595
1:108700104 SLC25A24 G>A	1	108700104	108700104	G	A	SLC25A24	c.649C>T	NM_013386.5	NP_037518.3:p.(Arg217Cys)	NC_000001.10:g.108700104G>A	(Likely) pathogenic	1 lab	f7f4efec12
15:48791177 FBN1 CT>C	15	48791177	48791179	CT	C	FBN1	c.2167+4del	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48791179del	(Likely) pathogenic	1 lab	f7f847fa42
17:75484343 SEPTIN9 G>A	17	75484343	75484343	G	A	SEPTIN9	c.1010G>A	NM_006640.5	NP_006631.2:p.(Arg337Gln)	NC_000017.10:g.75484343G>A	VUS	1 lab	f7faefc241
19:15298163 NOTCH3 A>G	19	15298163	15298163	A	G	NOTCH3	c.1607-14T>C	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15298163A>G	(Likely) benign	1 lab	f7fb888580
X:142757797 MISSING G>Alt too long to show for this DUP	X	142757797	142939027	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.142757798_142939027dup	VUS	1 lab	f80088f67b
2:179437635 TTN C>T	2	179437635	179437635	C	T	TTN	c.73224G>A	NM_001267550.2	NP_001254479.2:p.(Gly24408=)	NC_000002.11:g.179437635C>T	(Likely) benign	1 lab	f800af90ed
9:135201966 SETX T>C	9	135201966	135201966	T	C	SETX	c.5019A>G	NM_015046.7	NP_055861.3:p.(Lys1673=)	NC_000009.11:g.135201966T>C	(Likely) benign	1 lab	f80c6eab07
1:43213897 P3H1 G>A	1	43213897	43213897	G	A	P3H1	c.1812C>T	NM_022356.4	NP_071751.3:p.(Pro604=)	NC_000001.10:g.43213897G>A	(Likely) benign	1 lab	f81107fb27
1:78407902 NEXN C>T	1	78407902	78407902	C	T	NEXN	c.1659+9C>T	NM_144573.4	NP_653174.3:p.?	NC_000001.10:g.78407902C>T	(Likely) benign	1 lab	f8112f8f6c
3:58120510 FLNB G>A	3	58120510	58120510	G	A	FLNB	c.4764+11G>A	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58120510G>A	(Likely) benign	1 lab	f813d57389
19:35739848 LOC127891321 TC>T	19	35739848	35739850	TC	T	LOC127891321				NC_000019.9:g.35739850del	VUS	1 lab	f826a6128f
9:137709321 COL5A1 G>A	9	137709321	137709321	G	A	COL5A1	c.4177-303G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137709321G>A	(Likely) benign	1 lab	f8288dfc01
12:124323029 DNAH10 C>A	12	124323029	124323029	C	A	DNAH10	c.4575C>A	NM_207437.3	NP_997320.2:p.(Pro1525=)	NC_000012.11:g.124323029C>A	(Likely) benign	1 lab	f82d3ca613
2:179495805 TTN C>G	2	179495805	179495805	C	G	TTN	c.36266G>C	NM_133378.4	NP_596869.4:p.(Cys12089Ser)	NC_000002.11:g.179495805C>G	VUS	1 lab	f82d5f00cb
8:19796942 LPL G>A	8	19796942	19796942	G	A	LPL	c.-10G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796942G>A	VUS	1 lab	f834397487
1:55518335 PCSK9 G>C	1	55518335	55518335	G	C	PCSK9	c.670G>C	NM_174936.4	NP_777596.2:p.(Asp224His)	NC_000001.10:g.55518335G>C	VUS	1 lab	f83f5212eb
12:40904802 MUC19 A>G	12	40904802	40904802	A	G	MUC19	c.20224A>G	NM_173600.2	NP_775871.2:p.(Thr6742Ala)	NC_000012.11:g.40904802A>G	(Likely) benign	1 lab	f840a7221e
16:57005945 CETP C>A	16	57005945	57005945	C	A	CETP	c.700C>A	NM_000078.3	NP_000069.2:p.(Leu234Met)	NC_000016.9:g.57005945C>A	VUS	1 lab	f841bf99e3
12:110230232 TRPV4 A>T	12	110230232	110230232	A	T	TRPV4	c.1827T>A	NM_021625.5	NP_067638.3:p.(Ile609=)	NC_000012.11:g.110230232A>T	(Likely) benign	1 lab	f842c19539
22:50903016 SBF1 G>T	22	50903016	50903016	G	T	SBF1	c.1583C>A	NM_002972.4	NP_002963.2:p.(Pro528His)	NC_000022.10:g.50903016G>T	VUS	1 lab	f844caae10
10:47087017 NPY4R G>C	10	47087017	47087017	G	C	NPY4R	c.234G>C	NM_005972.6	NP_005963.4:p.(Leu78=)	NC_000010.10:g.47087017G>C	(Likely) benign	1 lab	f846b02f2b
15:85411468 ALPK3 C>G	15	85411468	85411468	C	G	ALPK3	c.4899C>G	NM_020778.5	NP_065829.4:p.(Pro1633=)	NC_000015.9:g.85411468C>G	(Likely) benign	1 lab	f84743b562
21:42804060 MX1 A>G	21	42804060	42804060	A	G	MX1	c.63A>G	NM_001144925.2	NP_001138397.1:p.(Leu21=)	NC_000021.8:g.42804060A>G	(Likely) benign	1 lab	f84ad7e242
9:100616406 FOXE1 C>G	9	100616406	100616406	C	G	FOXE1	c.210C>G	NM_004473.4	NP_004464.2:p.(Pro70=)	NC_000009.11:g.100616406C>G	(Likely) benign	1 lab	f8559e5ef3
17:2235661 TSR1 A>G	17	2235661	2235661	A	G	TSR1	c.1306-8T>C	NM_018128.5	NP_060598.3:p.?	NC_000017.10:g.2235661A>G	(Likely) benign	1 lab	f8592c37ea
2:179659681 TTN C>T	2	179659681	179659681	C	T	TTN	c.1213G>A	NM_001267550.2	NP_001254479.2:p.(Ala405Thr)	NC_000002.11:g.179659681C>T	(Likely) benign	1 lab	f859a44683
3:160122169 SMC4 G>A	3	160122169	160122169	G	A	SMC4	c.564G>A	NM_001002800.3	NP_001002800.1:p.(Thr188=)	NC_000003.11:g.160122169G>A	(Likely) benign	1 lab	f85ee36d0a
X:70444200 GJB1 C>T	X	70444200	70444200	C	T	GJB1	c.643C>T	NM_000166.6	NP_000157.1:p.(Arg215Trp)	NC_000023.10:g.70444200C>T	(Likely) pathogenic	1 lab	f86689c862
10:88994452 NUTM2A G>A	10	88994452	88994452	G	A	NUTM2A	c.2624G>A	NM_001099338.2	NP_001092808.1:p.(Arg875His)	NC_000010.10:g.88994452G>A	(Likely) benign	1 lab	f866e06ab3
9:1889885 MISSING A>Alt too long to show for this DUP	9	1889885	2119702	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.1889886_2119702dup	VUS	1 lab	f86a59beed
1:25891664 LDLRAP1 G>C	1	25891664	25891664	G	C	LDLRAP1	c.748G>C	NM_015627.3	NP_056442.2:p.(Glu250Gln)	NC_000001.10:g.25891664G>C	VUS	1 lab	f86cbb410c
X:41204438 DDX3X T>A	X	41204438	41204438	T	A	DDX3X	c.1031T>A	NM_001356.5	NP_001347.3:p.(Leu344Ter)	NC_000023.10:g.41204438T>A	(Likely) pathogenic	1 lab	f86ebc8e8e
1:63069855 ANGPTL3 A>T	1	63069855	63069855	A	T	ANGPTL3	c.1147A>T	NM_014495.4	NP_055310.1:p.(Thr383Ser)	NC_000001.10:g.63069855A>T	VUS	1 lab	f89a3e8c27
7:69974446 AUTS2 Ref too long to show for this DEL>G	7	69974446	70220887	Ref too long to show for this DEL	G	AUTS2	c.690+73682_743-6969del	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69974449_70220887del	(Likely) pathogenic	1 lab	f8787c8e79
3:176750844 TBL1XR1 G>A	3	176750844	176750844	G	A	TBL1XR1	c.1331C>T	NM_024665.7	NP_078941.2:p.(Pro444Leu)	NC_000003.11:g.176750844G>A	(Likely) pathogenic	1 lab	f87cb01929
19:11226883 LDLR C>A	19	11226883	11226883	C	A	LDLR	c.1700C>A	NM_000527.5	NP_000518.1:p.(Thr567Asn)	NC_000019.9:g.11226883C>A	VUS	1 lab	f87f5dd0ee
3:197880130 FAM157A GGCAGCAGCA>G	3	197880130	197880172	GGCAGCAGCA	G	FAM157A	n.88_96del	NR_146164.1		NC_000003.11:g.197880164_197880172del	(Likely) benign	1 lab	f881438d4a
9:107564323 ABCA1 T>C	9	107564323	107564323	T	C	ABCA1	c.4698+12A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107564323T>C	(Likely) benign	1 lab	f883bf7c56
15:58860367 LIPC A>G	15	58860367	58860367	A	G	LIPC	c.1389-548A>G	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58860367A>G	(Likely) benign	1 lab	f88654d55f
7:150649750 KCNH2 C>T	7	150649750	150649750	C	T	KCNH2	c.1320G>A	NM_000238.4	NP_000229.1:p.(Pro440=)	NC_000007.13:g.150649750C>T	(Likely) benign	1 lab	f88aa2dd90
4:74286034 ALB C>T	4	74286034	74286034	C	T	ALB	c.*19C>T	NM_000477.7	NP_000468.1:p.?	NC_000004.11:g.74286034C>T	(Likely) benign	1 lab	f88c02fde5
8:144997299 PLEC C>A	8	144997299	144997299	C	A	PLEC	c.7209G>T	NM_201380.4	NP_958782.1:p.(Leu2403=)	NC_000008.10:g.144997299C>A	(Likely) benign	1 lab	f897b3b36d
2:21229693 APOB T>C	2	21229693	21229693	T	C	APOB	c.10047A>G	NM_000384.3	NP_000375.3:p.(Thr3349=)	NC_000002.11:g.21229693T>C	(Likely) benign	1 lab	f898245ce2
6:32023871 TNXB G>A	6	32023871	32023871	G	A	TNXB	c.8224C>T	NM_019105.8	NP_061978.6:p.(Leu2742=)	NC_000006.11:g.32023871G>A	(Likely) benign	1 lab	f899660f10
2:215593440 BARD1 T>C	2	215593440	215593440	T	C	BARD1	c.2294A>G	NM_000465.4	NP_000456.2:p.(Asp765Gly)	NC_000002.11:g.215593440T>C	VUS	1 lab	f89b1633f9
3:49070150 QRICH1 A>G	3	49070150	49070150	A	G	QRICH1	c.1952T>C	NM_017730.4	NP_060200.2:p.(Leu651Ser)	NC_000003.11:g.49070150A>G	(Likely) pathogenic	1 lab	f89c0e0685
1:38166111 CDCA8 G>A	1	38166111	38166111	G	A	CDCA8	c.341G>A	NM_001256875.2	NP_001243804.1:p.(Arg114Gln)	NC_000001.10:g.38166111G>A	(Likely) benign	1 lab	f89e4a91a7
14:23876319 MYH6 G>A	14	23876319	23876319	G	A	MYH6	c.114C>T	NM_002471.4	NP_002462.2:p.(Phe38=)	NC_000014.8:g.23876319G>A	(Likely) benign	1 lab	f8a0d45365
4:100503186 MTTP C>T	4	100503186	100503186	C	T	MTTP	c.186C>T	NM_000253.4	NP_000244.2:p.(Asn62=)	NC_000004.11:g.100503186C>T	(Likely) benign	1 lab	f8a2f01274
2:71797803 DYSF A>G	2	71797803	71797803	A	G	DYSF	c.3157A>G	NM_001130981.2	NP_001124453.1:p.(Thr1053Ala)	NC_000002.11:g.71797803A>G	VUS	1 lab	f8a3ff8cda
16:28341783 MISSING Ref too long to show for this DEL>T	16	28341783	30177999	Ref too long to show for this DEL	T	MISSING				NC_000016.9:g.28341784_30177999del	(Likely) pathogenic	1 lab	f8ad9e7ede
15:48773643 FBN1 C>T	15	48773643	48773643	C	T	FBN1	c.3964+209G>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48773643C>T	VUS	1 lab	f8b0be7fd7
12:125302341 SCARB1 C>T	12	125302341	125302341	C	T	SCARB1	c.127-88G>A	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125302341C>T	(Likely) benign	1 lab	f8b5154df2
9:107582316 ABCA1 G>C	9	107582316	107582316	G	C	ABCA1	c.2995C>G	NM_005502.4	NP_005493.2:p.(Arg999Gly)	NC_000009.11:g.107582316G>C	(Likely) pathogenic	1 lab	f8b5a7a3b9
7:128494160 FLNC G>A	7	128494160	128494160	G	A	FLNC	c.6617G>A	NM_001458.5	NP_001449.3:p.(Arg2206Gln)	NC_000007.13:g.128494160G>A	VUS	1 lab	f8b805aad7
6:75843126 COL12A1 C>T	6	75843126	75843126	C	T	COL12A1	c.5677G>A	NM_004370.6	NP_004361.3:p.(Gly1893Arg)	NC_000006.11:g.75843126C>T	VUS	1 lab	f8b9fe2e9b
9:35906583 HRCT1 T>TCCACCACCACCA	9	35906583	35906600	T	TCCACCACCACCA	HRCT1	c.305_316dup	NM_001039792.2	NP_001034881.1:p.(His102_His105dup)	NC_000009.11:g.35906589_35906600dup	(Likely) benign	1 lab	f8badcf3af
1:3322157 PRDM16 G>C	1	3322157	3322157	G	C	PRDM16	c.1131G>C	NM_022114.4	NP_071397.3:p.(Thr377=)	NC_000001.10:g.3322157G>C	(Likely) benign	1 lab	f8c3abfede
16:920743 LMF1 G>A	16	920743	920743	G	A	LMF1	c.1218C>T	NM_022773.4	NP_073610.2:p.(Tyr406=)	NC_000016.9:g.920743G>A	(Likely) benign	1 lab	f9261d7b3d
8:100866444 VPS13B C>T	8	100866444	100866444	C	T	VPS13B	c.10902C>T	NM_017890.5	NP_060360.3:p.(Ala3634=)	NC_000008.10:g.100866444C>T	(Likely) benign	1 lab	f8c3d929a2
8:144994008 PLEC C>T	8	144994008	144994008	C	T	PLEC	c.10392G>A	NM_201380.4	NP_958782.1:p.(Gln3464=)	NC_000008.10:g.144994008C>T	(Likely) benign	1 lab	f8c53c70f9
2:21247806 APOB A>G	2	21247806	21247806	A	G	APOB	c.2435T>C	NM_000384.3	NP_000375.3:p.(Met812Thr)	NC_000002.11:g.21247806A>G	VUS	1 lab	f8c5cde6e3
10:18439808 CACNB2 T>TTTTTTTTTTTTTTG	10	18439808	18439810	T	TTTTTTTTTTTTTTG	CACNB2	c.37-3_37-2insTTTTTTTTTTTTGT	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439809_18439810insTTTTTTTTTTTTGT	(Likely) benign	1 lab	f8c9047b59
11:1017757 MUC6 G>A	11	1017757	1017757	G	A	MUC6	c.5044C>T	NM_005961.3	NP_005952.2:p.(Leu1682=)	NC_000011.9:g.1017757G>A	(Likely) benign	1 lab	f8c9554e9b
3:123419194 MYLK C>T	3	123419194	123419194	C	T	MYLK	c.3121G>A	NM_053025.4	NP_444253.3:p.(Ala1041Thr)	NC_000003.11:g.123419194C>T	VUS	1 lab	f8c96e41e4
5:176687009 NSD1 C>T	5	176687009	176687009	C	T	NSD1	c.4986C>T	NM_022455.5	NP_071900.2:p.(Val1662=)	NC_000005.9:g.176687009C>T	(Likely) benign	1 lab	f8cedb159f
22:47130556 MISSING Ref too long to show for this DEL>A	22	47130556	47238022	Ref too long to show for this DEL	A	MISSING				NC_000022.10:g.47130559_47238022del	VUS	1 lab	f8d11ab299
19:11218169 LDLR G>C	19	11218169	11218169	G	C	LDLR	c.919G>C	NM_000527.5	NP_000518.1:p.(Asp307His)	NC_000019.9:g.11218169G>C	VUS	1 lab	f8d502dfd2
2:44104732 ABCG8 CG>C	2	44104732	44104734	CG	C	ABCG8	c.1791del	NM_022437.3	NP_071882.1:p.(Trp598GlyfsTer6)	NC_000002.11:g.44104734del	VUS	1 lab	f8dfbd4e96
1:55529206 PCSK9 C>T	1	55529206	55529206	C	T	PCSK9	c.2028C>T	NM_174936.4	NP_777596.2:p.(Ala676=)	NC_000001.10:g.55529206C>T	(Likely) benign	1 lab	f8e77f4170
20:42815296 JPH2 C>A	20	42815296	42815296	C	A	JPH2	c.50G>T	NM_020433.5	NP_065166.2:p.(Gly17Val)	NC_000020.10:g.42815296C>A	VUS	1 lab	f8ee778405
12:33030804 PKP2 C>T	12	33030804	33030804	C	T	PKP2	c.1010G>A	NM_004572.4	NP_004563.2:p.(Ser337Asn)	NC_000012.11:g.33030804C>T	VUS	1 lab	f8f0ee718d
7:75293947 MISSING Ref too long to show for this DEL>G	7	75293947	78512809	Ref too long to show for this DEL	G	MISSING				NC_000007.13:g.75293948_78512809del	(Likely) pathogenic	1 lab	f8f16e17c7
7:75933417 HSPB1 C>T	7	75933417	75933417	C	T	HSPB1	c.545C>T	NM_001540.5	NP_001531.1:p.(Pro182Leu)	NC_000007.13:g.75933417C>T	(Likely) pathogenic	1 lab	f8f2d35ede
17:40695641 NAGLU C>T	17	40695641	40695641	C	T	NAGLU	c.1617C>T	NM_000263.4	NP_000254.2:p.(Ala539=)	NC_000017.10:g.40695641C>T	(Likely) benign	1 lab	f8f35493dd
11:68685242 IGHMBP2 T>C	11	68685242	68685242	T	C	IGHMBP2	c.951T>C	NM_002180.3	NP_002171.2:p.(Ser317=)	NC_000011.9:g.68685242T>C	(Likely) benign	1 lab	f8fe6de188
2:179428612 TTN G>A	2	179428612	179428612	G	A	TTN	c.74543C>T	NM_133378.4	NP_596869.4:p.(Ser24848Phe)	NC_000002.11:g.179428612G>A	VUS	1 lab	f904393d6c
X:44935937 KDM6A T>C	X	44935937	44935937	T	C	KDM6A	c.2859-5T>C	NM_001291415.2	NP_001278344.1:p.?	NC_000023.10:g.44935937T>C	(Likely) benign	1 lab	f90a892574
X:154929219 MISSING A>Alt too long to show for this DUP	X	154929219	155185478	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.154929222_155185478dup	VUS	1 lab	f912bd09e3
12:77421778 E2F7 A>C	12	77421778	77421778	A	C	E2F7	c.2025T>G	NM_203394.3	NP_976328.2:p.(Val675=)	NC_000012.11:g.77421778A>C	(Likely) benign	1 lab	f914d7ce53
6:75899329 COL12A1 T>C	6	75899329	75899329	T	C	COL12A1	c.597A>G	NM_004370.6	NP_004361.3:p.(Gln199=)	NC_000006.11:g.75899329T>C	(Likely) benign	1 lab	f9184261b3
19:45411150 APOE G>A	19	45411150	45411150	G	A	APOE	c.255G>A	NM_001302688.2	NP_001289617.1:p.(Gln85=)	NC_000019.9:g.45411150G>A	(Likely) benign	1 lab	f91ae1ca6d
6:7580923 DSP G>T	6	7580923	7580923	G	T	DSP	c.4500G>T	NM_004415.4	NP_004406.2:p.(Leu1500=)	NC_000006.11:g.7580923G>T	(Likely) benign	1 lab	f9210d668b
17:36485390 GPR179 C>T	17	36485390	36485390	C	T	GPR179	c.4062G>A	NM_001004334.4	NP_001004334.3:p.(Glu1354=)	NC_000017.10:g.36485390C>T	(Likely) benign	1 lab	f9269779d2
15:58853117 LIPC A>G	15	58853117	58853117	A	G	LIPC	c.1106A>G	NM_000236.3	NP_000227.2:p.(Gln369Arg)	NC_000015.9:g.58853117A>G	VUS	1 lab	f926a5912e
9:21837829 MTAP T>G	9	21837829	21837829	T	G	MTAP	c.348-78T>G	NM_002451.4	NP_002442.2:p.?	NC_000009.11:g.21837829T>G	(Likely) benign	1 lab	f928ac570e
9:137696505 COL5A1 G>A	9	137696505	137696505	G	A	COL5A1	c.3115-316G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137696505G>A	(Likely) benign	1 lab	f92b4230d9
X:135328309 MAP7D3 T>TA	X	135328309	135328319	T	TA	MAP7D3	c.170-3dup	NM_001173517.2	NP_001166988.1:p.?	NC_000023.10:g.135328319dup	(Likely) benign	1 lab	f92e38fd8d
18:10718207 PIEZO2 C>T	18	10718207	10718207	C	T	PIEZO2	c.4906G>A	NM_022068.4	NP_071351.2:p.(Asp1636Asn)	NC_000018.9:g.10718207C>T	VUS	1 lab	f931877203
5:127666281 FBN2 A>G	5	127666281	127666281	A	G	FBN2	c.4329T>C	NM_001999.4	NP_001990.2:p.(Asp1443=)	NC_000005.9:g.127666281A>G	(Likely) benign	1 lab	f934162649
5:95735650 PCSK1 T>C	5	95735650	95735650	T	C	PCSK1	c.1430+7A>G	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95735650T>C	(Likely) benign	1 lab	f9355178a0
1:236925570 ACTN2 C>T	1	236925570	236925570	C	T	ACTN2	c.2527-191C>T	NM_001103.4	NP_001094.1:p.?	NC_000001.10:g.236925570C>T	(Likely) benign	1 lab	f9359bb81d
2:179478511 TTN C>T	2	179478511	179478511	C	T	TTN	c.49499G>A	NM_001267550.2	NP_001254479.2:p.(Cys16500Tyr)	NC_000002.11:g.179478511C>T	VUS	1 lab	f939321899
15:77096990 SCAPER C>A	15	77096990	77096990	C	A	SCAPER	c.-504-16G>T	NM_001145923.2	NP_001139395.1:p.?	NC_000015.9:g.77096990C>A	(Likely) benign	1 lab	f93bb1df5f
16:57012038 CETP C>T	16	57012038	57012038	C	T	CETP	c.1017C>T	NM_000078.3	NP_000069.2:p.(Thr339=)	NC_000016.9:g.57012038C>T	(Likely) benign	1 lab	f93cae1244
6:32012587 TNXB C>T	6	32012587	32012587	C	T	TNXB	c.10922-94G>A	NM_019105.8	NP_061978.6:p.?	NC_000006.11:g.32012587C>T	(Likely) benign	1 lab	f93e5ccf74
11:62459866 BSCL2 G>A	11	62459866	62459866	G	A	BSCL2	c.653C>T	NM_032667.6	NP_116056.3:p.(Ala218Val)	NC_000011.9:g.62459866G>A	(Likely) benign	1 lab	f93e6f2e61
X:18303441 MISSING Ref too long to show for this DEL>G	X	18303441	18599593	Ref too long to show for this DEL	G	MISSING				NC_000023.10:g.18303442_18599593del	(Likely) pathogenic	1 lab	f941ca1893
22:29876756 NEFH C>T	22	29876756	29876756	C	T	NEFH	c.505C>T	NM_021076.4	NP_066554.2:p.(Leu169=)	NC_000022.10:g.29876756C>T	(Likely) benign	1 lab	f943870e84
7:107335068 SLC26A4 G>A	7	107335068	107335068	G	A	SLC26A4	c.1344G>A	NM_000441.2	NP_000432.1:p.(Ser448=)	NC_000007.13:g.107335068G>A	(Likely) benign	1 lab	f94529c1fd
13:114438121 GRK1 G>A	13	114438121	114438121	G	A	GRK1	c.1477G>A	NM_002929.3	NP_002920.1:p.(Val493Ile)	NC_000013.10:g.114438121G>A	(Likely) benign	1 lab	f94c926c39
1:161279637 MPZ G>A	1	161279637	161279637	G	A	MPZ	c.59C>T	NM_000530.8	NP_000521.2:p.(Ser20Phe)	NC_000001.10:g.161279637G>A	(Likely) pathogenic	1 lab	f94e8fe80f
6:30954471 MUC21 C>G	6	30954471	30954471	C	G	MUC21	c.519C>G	NM_001010909.5	NP_001010909.2:p.(Thr173=)	NC_000006.11:g.30954471C>G	(Likely) benign	1 lab	f9596e38ed
X:152771051 BGN C>T	X	152771051	152771051	C	T	BGN	c.351+243C>T	NM_001711.6	NP_001702.1:p.?	NC_000023.10:g.152771051C>T	(Likely) benign	1 lab	f95a813da4
4:190947558 FRG2 G>A	4	190947558	190947558	G	A	FRG2	c.315C>T	NM_001286820.2	NP_001273749.1:p.(Asp105=)	NC_000004.11:g.190947558G>A	(Likely) benign	1 lab	f95bd8ce5e
10:74776634 P4HA1 T>C	10	74776634	74776634	T	C	P4HA1	c.1272A>G	NM_000917.4	NP_000908.2:p.(Gly424=)	NC_000010.10:g.74776634T>C	(Likely) benign	1 lab	f95e7e63d5
2:21237786 APOB T>G	2	21237786	21237786	T	G	APOB	c.3696+159A>C	NM_000384.3	NP_000375.3:p.?	NC_000002.11:g.21237786T>G	(Likely) benign	1 lab	f960861908
15:45412946 DUOXA1 C>A	15	45412946	45412946	C	A	DUOXA1	c.263G>T	NM_001276267.2	NP_001263196.1:p.(Arg88Leu)	NC_000015.9:g.45412946C>A	(Likely) benign	1 lab	f9611fd4ff
12:862730 WNK1 C>T	12	862730	862730	C	T	WNK1	c.-2C>T	NM_001184985.2	NP_001171914.1:p.?	NC_000012.11:g.862730C>T	VUS	1 lab	f962904038
1:68895518 RPE65 G>A	1	68895518	68895518	G	A	RPE65	c.1543C>T	NM_000329.3	NP_000320.1:p.(Arg515Trp)	NC_000001.10:g.68895518G>A	(Likely) pathogenic	1 lab	f96b7568e3
11:44129386 EXT2 A>G	11	44129386	44129386	A	G	EXT2	c.223A>G	NM_000401.3	NP_000392.3:p.(Met75Val)	NC_000011.9:g.44129386A>G	(Likely) benign	1 lab	f971011629
2:179467255 TTN C>T	2	179467255	179467255	C	T	TTN	c.54874G>A	NM_001267550.2	NP_001254479.2:p.(Gly18292Arg)	NC_000002.11:g.179467255C>T	VUS	1 lab	f9711b6cee
16:23619278 PALB2 C>T	16	23619278	23619278	C	T	PALB2	c.3257G>A	NM_024675.4	NP_078951.2:p.(Arg1086Gln)	NC_000016.9:g.23619278C>T	(Likely) benign	1 lab	f97166a51e
2:74597658 DCTN1 A>G	2	74597658	74597658	A	G	DCTN1	c.1062T>C	NM_004082.5	NP_004073.2:p.(Ala354=)	NC_000002.11:g.74597658A>G	(Likely) benign	1 lab	f97211c07a
6:72889514 RIMS1 C>T	6	72889514	72889514	C	T	RIMS1	c.708C>T	NM_014989.6	NP_055804.2:p.(Ser236=)	NC_000006.11:g.72889514C>T	(Likely) benign	1 lab	f972ecef90
10:69959279 MYPN T>A	10	69959279	69959279	T	A	MYPN	c.3440T>A	NM_032578.4	NP_115967.2:p.(Ile1147Asn)	NC_000010.10:g.69959279T>A	VUS	1 lab	f973026115
1:237843758 RYR2 C>T	1	237843758	237843758	C	T	RYR2	c.8898C>T	NM_001035.3	NP_001026.2:p.(Val2966=)	NC_000001.10:g.237843758C>T	(Likely) benign	1 lab	f9747c0b59
12:2705142 CACNA1C G>A	12	2705142	2705142	G	A	CACNA1C	c.2766G>A	NM_000719.7	NP_000710.5:p.(Pro922=)	NC_000012.11:g.2705142G>A	(Likely) benign	1 lab	f9774e1af5
16:88503340 ZNF469 C>T	16	88503340	88503340	C	T	ZNF469	c.9462C>T	NM_001367624.2	NP_001354553.1:p.(Gly3154=)	NC_000016.9:g.88503340C>T	(Likely) benign	1 lab	f978eceb29
12:125294716 SCARB1 T>G	12	125294716	125294716	T	G	SCARB1	c.842+4A>C	NM_005505.5	NP_005496.4:p.?	NC_000012.11:g.125294716T>G	(Likely) pathogenic	1 lab	f97e8353ae
19:11226867 LDLR T>A	19	11226867	11226867	T	A	LDLR	c.1684T>A	NM_000527.5	NP_000518.1:p.(Trp562Arg)	NC_000019.9:g.11226867T>A	(Likely) pathogenic	1 lab	f98668021f
5:178634641 ADAMTS2 C>T	5	178634641	178634641	C	T	ADAMTS2	c.764G>A	NM_014244.5	NP_055059.2:p.(Arg255Gln)	NC_000005.9:g.178634641C>T	(Likely) benign	1 lab	f988087161
2:27708376 IFT172 G>C	2	27708376	27708376	G	C	IFT172	c.40-6C>G	NM_015662.3	NP_056477.1:p.?	NC_000002.11:g.27708376G>C	(Likely) benign	1 lab	f989cfe369
19:49685933 TRPM4 C>G	19	49685933	49685933	C	G	TRPM4	c.1362C>G	NM_017636.4	NP_060106.2:p.(Phe454Leu)	NC_000019.9:g.49685933C>G	VUS	1 lab	f98c177229
20:44996182 ELMO2 A>G	20	44996182	44996182	A	G	ELMO2	c.1980T>C	NM_133171.5	NP_573403.1:p.(Asp660=)	NC_000020.10:g.44996182A>G	(Likely) benign	1 lab	f99219524a
9:107554252 ABCA1 C>A	9	107554252	107554252	C	A	ABCA1	c.5785G>T	NM_005502.4	NP_005493.2:p.(Val1929Phe)	NC_000009.11:g.107554252C>A	VUS	1 lab	f9da7fbd6e
X:15858996 MISSING Ref too long to show for this DEL>T	X	15858996	15950760	Ref too long to show for this DEL	T	MISSING				NC_000023.10:g.15858997_15950760del	(Likely) pathogenic	1 lab	f996114b08
7:128488021 FLNC G>A	7	128488021	128488021	G	A	FLNC	c.4479G>A	NM_001458.5	NP_001449.3:p.(Val1493=)	NC_000007.13:g.128488021G>A	VUS	1 lab	f99c0f21db
10:72065941 LRRC20 Ref too long to show for this DEL>A	10	72065941	72090098	Ref too long to show for this DEL	A	LRRC20	c.233-6312_401-4678del	NM_001278212.2	NP_001265141.1:p.?	NC_000010.10:g.72065942_72090098del	VUS	1 lab	f99d60b729
22:26853807 HPS4 C>T	22	26853807	26853807	C	T	HPS4	c.1955+18G>A	NM_022081.6	NP_071364.4:p.?	NC_000022.10:g.26853807C>T	(Likely) benign	1 lab	f99e6e09e4
10:90697954 ACTA2 A>G	10	90697954	90697954	A	G	ACTA2	c.854T>C	NM_001141945.2	NP_001135417.1:p.(Met285Thr)	NC_000010.10:g.90697954A>G	(Likely) pathogenic	1 lab	f9a1c4396b
7:138583864 KIAA1549 C>T	7	138583864	138583864	C	T	KIAA1549	c.3684G>A	NM_001164665.2	NP_001158137.1:p.(Ser1228=)	NC_000007.13:g.138583864C>T	(Likely) benign	1 lab	f9a634dc3b
6:80223063 LCA5 G>A	6	80223063	80223063	G	A	LCA5	c.586C>T	NM_181714.4	NP_859065.2:p.(Leu196=)	NC_000006.11:g.80223063G>A	(Likely) benign	1 lab	f9a71fefef
X:47435778 SYN1 C>A	X	47435778	47435778	C	A	SYN1	c.1008G>T	NM_006950.3	NP_008881.2:p.(Lys336Asn)	NC_000023.10:g.47435778C>A	VUS	1 lab	f9acc2ea83
7:21639449 DNAH11 G>A	7	21639449	21639449	G	A	DNAH11	c.2712G>A	NM_001277115.2	NP_001264044.1:p.(Trp904Ter)	NC_000007.13:g.21639449G>A	(Likely) pathogenic	1 lab	f9aed3c590
8:55534157 RP1 G>T	8	55534157	55534157	G	T	RP1	c.615+16G>T	NM_006269.2	NP_006260.1:p.?	NC_000008.10:g.55534157G>T	(Likely) benign	1 lab	f9af0d0422
11:116661301 APOA5 G>A	11	116661301	116661301	G	A	APOA5	c.644C>T	NM_052968.5	NP_443200.2:p.(Pro215Leu)	NC_000011.9:g.116661301G>A	VUS	1 lab	f9b25c1ad7
9:137716711 COL5A1 TG>T	9	137716711	137716718	TG	T	COL5A1	c.4954+17del	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137716718del	(Likely) benign	1 lab	f9ba383a9e
12:32949242 PKP2 G>GAGAA	12	32949242	32949244	G	GAGAA	PKP2	c.2300-11_2300-10insTTCT	NM_004572.4	NP_004563.2:p.?	NC_000012.11:g.32949243_32949244insGAAA	(Likely) benign	1 lab	f9bb889707
8:59409762 CYP7A1 A>C	8	59409762	59409762	A	C	CYP7A1	c.322-13T>G	NM_000780.4	NP_000771.2:p.?	NC_000008.10:g.59409762A>C	VUS	1 lab	f9bc31d713
19:11222314 LDLR G>C	19	11222314	11222314	G	C	LDLR	c.1185G>C	NM_000527.5	NP_000518.1:p.(Val395=)	NC_000019.9:g.11222314G>C	(Likely) benign	1 lab	f9be7267ef
1:3328432 PRDM16 C>G	1	3328432	3328432	C	G	PRDM16	c.1671C>G	NM_022114.4	NP_071397.3:p.(Pro557=)	NC_000001.10:g.3328432C>G	(Likely) benign	1 lab	f9bf977207
1:55523809 PCSK9 C>T	1	55523809	55523809	C	T	PCSK9	c.1281C>T	NM_174936.4	NP_777596.2:p.(Ala427=)	NC_000001.10:g.55523809C>T	(Likely) benign	1 lab	f9c302fcd1
8:19816752 LPL C>T	8	19816752	19816752	C	T	LPL	c.1019-19C>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19816752C>T	(Likely) benign	1 lab	f9c39bfcc6
16:88502090 ZNF469 G>A	16	88502090	88502090	G	A	ZNF469	c.8212G>A	NM_001367624.2	NP_001354553.1:p.(Ala2738Thr)	NC_000016.9:g.88502090G>A	(Likely) benign	1 lab	f9c63503ba
6:150716533 IYD T>A	6	150716533	150716533	T	A	IYD	c.691T>A	NM_001164695.2	NP_001158167.1:p.(Phe231Ile)	NC_000006.11:g.150716533T>A	(Likely) benign	1 lab	f9c98eb402
2:21230295 APOB C>T	2	21230295	21230295	C	T	APOB	c.9445G>A	NM_000384.3	NP_000375.3:p.(Asp3149Asn)	NC_000002.11:g.21230295C>T	VUS	1 lab	f9ca3a83be
16:2159106 PKD1 AG>A	16	2159106	2159108	AG	A	PKD1	c.6061del	NM_001009944.3	NP_001009944.3:p.(Leu2021CysfsTer95)	NC_000016.9:g.2159108del	(Likely) pathogenic	1 lab	f9ceb40bbf
5:82815170 VCAN A>G	5	82815170	82815170	A	G	VCAN	c.1045A>G	NM_004385.5	NP_004376.2:p.(Lys349Glu)	NC_000005.9:g.82815170A>G	(Likely) benign	1 lab	f9d27ac64d
18:58039494 MC4R G>A	18	58039494	58039494	G	A	MC4R	c.89C>T	NM_005912.3	NP_005903.2:p.(Ser30Phe)	NC_000018.9:g.58039494G>A	VUS	1 lab	f9d3f96444
2:179412727 TTN G>A	2	179412727	179412727	G	A	TTN	c.93626C>T	NM_001267550.2	NP_001254479.2:p.(Pro31209Leu)	NC_000002.11:g.179412727G>A	VUS	1 lab	f9dddf1335
18:34310709 FHOD3 C>T	18	34310709	34310709	C	T	FHOD3	c.3518C>T	NM_001281740.3	NP_001268669.1:p.(Thr1173Met)	NC_000018.9:g.34310709C>T	VUS	1 lab	f9e06dde63
12:125270669 SCARB1 G>C	12	125270669	125270669	G	C	SCARB1	c.1635C>G	NM_001367981.1	NP_001354910.1:p.(Ser545=)	NC_000012.11:g.125270669G>C	(Likely) benign	1 lab	f9e98bba18
4:114290710 ANK2 GCTATGATAGTA>G	4	114290710	114290722	GCTATGATAGTA	G	ANK2	c.11361_11371del	NM_001148.6	NP_001139.3:p.(Met3788GlnfsTer8)	NC_000004.11:g.114290712_114290722del	(Likely) pathogenic	1 lab	f9ec120935
3:38648190 SCN5A C>A	3	38648190	38648190	C	A	SCN5A	c.1110G>T	NM_198056.3	NP_932173.1:p.(Thr370=)	NC_000003.11:g.38648190C>A	(Likely) benign	1 lab	f9f435e628
15:48787329 FBN1 A>G	15	48787329	48787329	A	G	FBN1	c.2668T>C	NM_000138.5	NP_000129.3:p.(Cys890Arg)	NC_000015.9:g.48787329A>G	(Likely) pathogenic	1 lab	f9f82d7be9
2:21245908 APOB C>T	2	21245908	21245908	C	T	APOB	c.2611G>A	NM_000384.3	NP_000375.3:p.(Ala871Thr)	NC_000002.11:g.21245908C>T	(Likely) benign	1 lab	f9ff7359d0
16:89759754 MISSING Ref too long to show for this DEL>G	16	89759754	90155062	Ref too long to show for this DEL	G	MISSING				NC_000016.9:g.89759755_90155062del	(Likely) pathogenic	1 lab	f9ff809a1b
16:67976783 LCAT C>T	16	67976783	67976783	C	T	LCAT	c.408G>A	NM_000229.2	NP_000220.1:p.(Leu136=)	NC_000016.9:g.67976783C>T	(Likely) benign	1 lab	fa02b426a0
2:179600240 TTN C>T	2	179600240	179600240	C	T	TTN	c.14933G>A	NM_001267550.2	NP_001254479.2:p.(Arg4978Lys)	NC_000002.11:g.179600240C>T	VUS	1 lab	fa03888a13
6:169629724 THBS2 G>A	6	169629724	169629724	G	A	THBS2	c.2202C>T	NM_003247.5	NP_003238.2:p.(Asp734=)	NC_000006.11:g.169629724G>A	(Likely) benign	1 lab	fa08bc9019
13:114321685 GRK1 G>A	13	114321685	114321685	G	A	GRK1	c.-17G>A	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114321685G>A	(Likely) benign	1 lab	fa09af3f64
X:57515262 FAAH2 G>A	X	57515262	57515262	G	A	FAAH2	c.1496G>A	NM_174912.4	NP_777572.2:p.(Gly499Asp)	NC_000023.10:g.57515262G>A	VUS	1 lab	fa0ecc1924
9:107574835 ABCA1 G>A	9	107574835	107574835	G	A	ABCA1	c.4050+20C>T	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107574835G>A	(Likely) benign	1 lab	fa12cb255a
17:45229207 CDC27 A>G	17	45229207	45229207	A	G	CDC27	c.1053T>C	NM_001114091.4	NP_001107563.1:p.(Ile351=)	NC_000017.10:g.45229207A>G	(Likely) benign	1 lab	fa139fbcaa
9:87317066 NTRK2 TG>T	9	87317066	87317067	TG	T	NTRK2	c.213-7del	NM_006180.6	NP_006171.2:p.?	NC_000009.11:g.87317067del	(Likely) benign	1 lab	fa1512f6e4
13:19665137 MISSING Ref too long to show for this DEL>C	13	19665137	26937406	Ref too long to show for this DEL	C	MISSING				NC_000013.10:g.19665138_26937406del	(Likely) pathogenic	1 lab	fa151f889d
20:23418958 MISSING Ref too long to show for this DEL>G	20	23418958	23431384	Ref too long to show for this DEL	G	MISSING				NC_000020.10:g.23418959_23431384del	VUS	1 lab	fa18749cbb
8:33317980 MISSING T>Alt too long to show for this DUP	8	33317980	33455300	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.33317982_33455300dup	VUS	1 lab	fa211b34a5
2:179413005 TTN T>G	2	179413005	179413005	T	G	TTN	c.93348A>C	NM_001267550.2	NP_001254479.2:p.(Pro31116=)	NC_000002.11:g.179413005T>G	(Likely) benign	1 lab	fa2774dbd1
1:25883769 LDLRAP1 A>AG	1	25883769	25883772	A	AG	LDLRAP1	c.459+14dup	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883772dup	(Likely) benign	1 lab	fa29162622
X:130592475 MISSING T>Alt too long to show for this DUP	X	130592475	130980665	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.130592476_130980665dup	VUS	1 lab	fa34f67a0a
X:70444128 GJB1 A>AACCGTCTTC	X	70444128	70444129	A	AACCGTCTTC	GJB1	c.571_572insACCGTCTTC	NM_000166.6	NP_000157.1:p.(Thr191delinsAsnArgLeuPro)	NC_000023.10:g.70444128_70444129insACCGTCTTC	(Likely) pathogenic	1 lab	fa372ee875
X:49104723 CCDC22 C>T	X	49104723	49104723	C	T	CCDC22	c.1164C>T	NM_014008.5	NP_054727.1:p.(Arg388=)	NC_000023.10:g.49104723C>T	(Likely) benign	1 lab	fa3d5f54d5
1:54359922 DIO1 C>T	1	54359922	54359922	C	T	DIO1	c.39C>T	NM_000792.7	NP_000783.2:p.(Leu13=)	NC_000001.10:g.54359922C>T	(Likely) benign	1 lab	fa3e0d9d4a
21:45750610 CFAP410 G>A	21	45750610	45750610	G	A	CFAP410	c.735C>T	NM_001271441.2	NP_001258370.1:p.(Pro245=)	NC_000021.8:g.45750610G>A	(Likely) benign	1 lab	fa3fcf18ca
17:11887518 ZNF18 GAAAA>G	17	11887518	11887534	GAAAA	G	ZNF18	c.667-8_667-5del	NM_144680.4	NP_653281.2:p.?	NC_000017.10:g.11887531_11887534del	(Likely) benign	1 lab	fa448b21c3
10:75832519 VCL G>A	10	75832519	75832519	G	A	VCL	c.531G>A	NM_003373.4	NP_003364.1:p.(Glu177=)	NC_000010.10:g.75832519G>A	(Likely) benign	1 lab	fa4804e666
7:154379739 DPP6 C>T	7	154379739	154379739	C	T	DPP6	c.1007C>T	NM_001290253.2	NP_001277182.1:p.(Pro336Leu)	NC_000007.13:g.154379739C>T	(Likely) benign	1 lab	fa4891bb36
8:1828255 ARHGEF10 A>G	8	1828255	1828255	A	G	ARHGEF10	c.960A>G	NM_001308153.2	NP_001295082.1:p.(Lys320=)	NC_000008.10:g.1828255A>G	(Likely) benign	1 lab	fa4da9091c
2:230280220 DNER Ref too long to show for this DEL>A	2	230280220	230305963	Ref too long to show for this DEL	A	DNER	c.1486+6069_1609+2603del	NM_139072.4	NP_620711.3:p.?	NC_000002.11:g.230280221_230305963del	VUS	1 lab	fa54454001
10:75864950 VCL G>A	10	75864950	75864950	G	A	VCL	c.2273G>A	NM_003373.4	NP_003364.1:p.(Arg758His)	NC_000010.10:g.75864950G>A	VUS	1 lab	fa598ea207
11:2906381 CDKN1C C>T	11	2906381	2906381	C	T	CDKN1C	c.339G>A	NM_000076.2	NP_000067.1:p.(Val113=)	NC_000011.9:g.2906381C>T	(Likely) benign	1 lab	fa5b78cab0
2:179453666 TTN A>G	2	179453666	179453666	A	G	TTN	c.62786T>C	NM_001267550.2	NP_001254479.2:p.(Ile20929Thr)	NC_000002.11:g.179453666A>G	VUS	1 lab	fa5d96e438
17:6337369 AIPL1 A>G	17	6337369	6337369	A	G	AIPL1	c.146T>C	NM_014336.5	NP_055151.3:p.(Ile49Thr)	NC_000017.10:g.6337369A>G	(Likely) benign	1 lab	fa5df44796
18:58039132 MC4R TAGTAA>T	18	58039132	58039141	TAGTAA	T	MC4R	c.446_450del	NM_005912.3	NP_005903.2:p.(Phe149TyrfsTer9)	NC_000018.9:g.58039137_58039141del	(Likely) pathogenic	1 lab	fa5ee4b566
9:107548684 ABCA1 A>T	9	107548684	107548684	A	T	ABCA1	c.6309-13T>A	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107548684A>T	VUS	1 lab	fa6060d3cc
2:44102281 ABCG8 G>A	2	44102281	44102281	G	A	ABCG8	c.1489-4G>A	NM_022437.3	NP_071882.1:p.?	NC_000002.11:g.44102281G>A	(Likely) benign	1 lab	fa6363f77a
9:72082895 APBA1 T>C	9	72082895	72082895	T	C	APBA1	c.1337-11A>G	NM_001163.4	NP_001154.2:p.?	NC_000009.11:g.72082895T>C	(Likely) benign	1 lab	fa6908fe31
7:75357255 MISSING Ref too long to show for this DEL>A	7	75357255	75374645	Ref too long to show for this DEL	A	MISSING				NC_000007.13:g.75357257_75374645del	VUS	1 lab	fa6d779b56
16:57003807 CETP A>C	16	57003807	57003807	A	C	CETP	c.440-19A>C	NM_000078.3	NP_000069.2:p.?	NC_000016.9:g.57003807A>C	(Likely) benign	1 lab	fa6e76f1ad
3:38592688 SCN5A C>T	3	38592688	38592688	C	T	SCN5A	c.5175G>A	NM_198056.3	NP_932173.1:p.(Pro1725=)	NC_000003.11:g.38592688C>T	(Likely) benign	1 lab	fa7186d1a9
20:33657126 TRPC4AP G>A	20	33657126	33657126	G	A	TRPC4AP	c.387C>T	NM_015638.3	NP_056453.1:p.(Tyr129=)	NC_000020.10:g.33657126G>A	(Likely) benign	1 lab	fa72bb5ef7
3:58123737 FLNB A>G	3	58123737	58123737	A	G	FLNB	c.4955-272A>G	NM_001164317.2	NP_001157789.1:p.?	NC_000003.11:g.58123737A>G	(Likely) benign	1 lab	fa7d03e950
7:133788912 MISSING T>Alt too long to show for this DUP	7	133788912	134027782	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.133788916_134027782dup	(Likely) pathogenic	1 lab	fa8487e99b
9:79984232 VPS13A T>C	9	79984232	79984232	T	C	VPS13A	c.8454T>C	NM_001018037.2	NP_001018047.1:p.(Tyr2818=)	NC_000009.11:g.79984232T>C	(Likely) benign	1 lab	fa874b588a
4:47010165 GABRB1 A>Alt too long to show for this DUP	4	47010165	47073415	A	Alt too long to show for this DUP	GABRB1				NC_000004.11:g.47010168_47073415dup	VUS	1 lab	fa8a4377e1
9:137694515 COL5A1 C>T	9	137694515	137694515	C	T	COL5A1	c.3007-219C>T	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137694515C>T	(Likely) benign	1 lab	fa94cb9e35
1:6526465 PLEKHG5 C>G	1	6526465	6526465	C	G	PLEKHG5				NC_000001.10:g.6526465C>G	(Likely) benign	1 lab	fa9850e8e2
5:147806954 FBXO38 T>C	5	147806954	147806954	T	C	FBXO38	c.2097T>C	NM_205836.3	NP_995308.1:p.(Asp699=)	NC_000005.9:g.147806954T>C	(Likely) benign	1 lab	fa99660aad
22:50898763 SBF1 T>G	22	50898763	50898763	T	G	SBF1	c.3221A>C	NM_002972.4	NP_002963.2:p.(Asn1074Thr)	NC_000022.10:g.50898763T>G	VUS	1 lab	faa61307d7
8:19819737 LPL A>G	8	19819737	19819737	A	G	LPL	c.1427+7A>G	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19819737A>G	(Likely) benign	1 lab	faaa919f9a
6:162229690 PRKN Ref too long to show for this DEL>T	6	162229690	162437394	Ref too long to show for this DEL	T	PRKN	c.618+37730_735-22751del	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162229692_162437394del	VUS	1 lab	fab2200ca6
6:16145218 MYLIP C>A	6	16145218	16145218	C	A	MYLIP	c.918C>A	NM_013262.4	NP_037394.2:p.(Asn306Lys)	NC_000006.11:g.16145218C>A	VUS	1 lab	fab477172b
22:50899103 SBF1 G>A	22	50899103	50899103	G	A	SBF1	c.3006C>T	NM_002972.4	NP_002963.2:p.(Asp1002=)	NC_000022.10:g.50899103G>A	(Likely) benign	1 lab	fab58640ad
10:112581546 RBM20 C>T	10	112581546	112581546	C	T	RBM20	c.3169C>T	NM_001134363.3	NP_001127835.2:p.(Arg1057Trp)	NC_000010.10:g.112581546C>T	VUS	1 lab	fac2208ae8
12:112036780 ATXN2 TGTTGCTGCTGCTGCTGC>T	12	112036780	112036797	TGTTGCTGCTGCTGCTGC	T	ATXN2	c.42_58del	NM_001372574.1	NP_001359503.1:p.(Gln15AlafsTer69)	NC_000012.11:g.112036781_112036797del	(Likely) benign	1 lab	fac280c6f4
6:65655758 EYS T>G	6	65655758	65655758	T	G	EYS	c.2309A>C	NM_001292009.2	NP_001278938.1:p.(Gln770Pro)	NC_000006.11:g.65655758T>G	(Likely) benign	1 lab	facb431a1f
2:179431070 TTN C>A	2	179431070	179431070	C	A	TTN	c.79789G>T	NM_001267550.2	NP_001254479.2:p.(Glu26597Ter)	NC_000002.11:g.179431070C>A	(Likely) pathogenic	1 lab	facd2adec3
X:32482811 DMD G>A	X	32482811	32482811	G	A	DMD	c.2799C>T	NM_004010.3	NP_004001.1:p.(His933=)	NC_000023.10:g.32482811G>A	(Likely) benign	1 lab	fad24328d6
21:27394296 APP GCTT>G	21	27394296	27394309	GCTT	G	APP	c.722_724del	NM_000484.4	NP_000475.1:p.(Glu241del)	NC_000021.8:g.27394307_27394309del	VUS	1 lab	fad286400e
6:32050067 TNXB T>C	6	32050067	32050067	T	C	TNXB	c.3482A>G	NM_019105.8	NP_061978.6:p.(His1161Arg)	NC_000006.11:g.32050067T>C	(Likely) benign	1 lab	fad314f903
X:134990288 SAGE1 T>C	X	134990288	134990288	T	C	SAGE1	c.1200T>C	NM_018666.3	NP_061136.2:p.(Asp400=)	NC_000023.10:g.134990288T>C	(Likely) benign	1 lab	fad819358d
1:25883820 LDLRAP1 G>C	1	25883820	25883820	G	C	LDLRAP1	c.459+62G>C	NM_015627.3	NP_056442.2:p.?	NC_000001.10:g.25883820G>C	(Likely) benign	1 lab	fbd8504b0d
8:19375577 CSGALNACT1 A>Alt too long to show for this DUP	8	19375577	19412081	A	Alt too long to show for this DUP	CSGALNACT1	c.-297+47201_-296-11937dup	NM_001354483.2	NP_001341412.1:p.?	NC_000008.10:g.19375578_19412081dup	VUS	1 lab	faddca0941
20:13071816 SPTLC3 C>T	20	13071816	13071816	C	T	SPTLC3	c.693C>T	NM_018327.4	NP_060797.2:p.(Phe231=)	NC_000020.10:g.13071816C>T	(Likely) benign	1 lab	fae2545408
6:24325784 MISSING T>Alt too long to show for this DUP	6	24325784	24501082	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.24325790_24501082dup	VUS	1 lab	fae4cfe0af
7:151257644 PRKAG2 C>T	7	151257644	151257644	C	T	PRKAG2	c.1644G>A	NM_016203.4	NP_057287.2:p.(Ser548=)	NC_000007.13:g.151257644C>T	VUS	1 lab	fae7b6194b
16:77369732 ADAMTS18 C>T	16	77369732	77369732	C	T	ADAMTS18	c.1780G>A	NM_199355.4	NP_955387.1:p.(Ala594Thr)	NC_000016.9:g.77369732C>T	(Likely) benign	1 lab	fae95bfb4d
16:88800295 PIEZO1 C>T	16	88800295	88800295	C	T	PIEZO1	c.2329+19G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88800295C>T	(Likely) benign	1 lab	fae9959012
12:125302139 SCARB1 C>T	12	125302139	125302139	C	T	SCARB1	c.241G>A	NM_001367981.1	NP_001354910.1:p.(Gly81Ser)	NC_000012.11:g.125302139C>T	VUS	1 lab	faed9594c0
7:91631131 AKAP9 G>A	7	91631131	91631131	G	A	AKAP9	c.1900G>A	NM_005751.5	NP_005742.4:p.(Glu634Lys)	NC_000007.13:g.91631131G>A	VUS	1 lab	faeeb3a064
16:57017515 CETP G>A	16	57017515	57017515	G	A	CETP	c.1419G>A	NM_000078.3	NP_000069.2:p.(Leu473=)	NC_000016.9:g.57017515G>A	(Likely) benign	1 lab	faef80232a
16:72142220 DHX38 A>G	16	72142220	72142220	A	G	DHX38	c.3059A>G	NM_014003.4	NP_054722.2:p.(Asn1020Ser)	NC_000016.9:g.72142220A>G	VUS	1 lab	faf8675654
8:10237504 MISSING G>Alt too long to show for this DUP	8	10237504	10399699	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.10237505_10399699dup	VUS	1 lab	fafa098405
9:139944732 ENTPD2 T>C	9	139944732	139944732	T	C	ENTPD2	c.1029+4A>G	NM_203468.3	NP_982293.1:p.?	NC_000009.11:g.139944732T>C	(Likely) benign	1 lab	fafd9e822f
2:25048974 ADCY3 C>T	2	25048974	25048974	C	T	ADCY3	c.2583G>A	NM_001377128.1	NP_001364057.1:p.(Lys861=)	NC_000002.11:g.25048974C>T	(Likely) benign	1 lab	fafe9f4368
11:68704387 IGHMBP2 G>A	11	68704387	68704387	G	A	IGHMBP2	c.2439G>A	NM_002180.3	NP_002171.2:p.(Ala813=)	NC_000011.9:g.68704387G>A	(Likely) benign	1 lab	faff52cf5c
8:41792349 KAT6A T>C	8	41792349	41792349	T	C	KAT6A	c.3389A>G	NM_006766.5	NP_006757.2:p.(Lys1130Arg)	NC_000008.10:g.41792349T>C	(Likely) benign	1 lab	fb002d8786
2:220285378 DES G>A	2	220285378	220285378	G	A	DES	c.897G>A	NM_001927.4	NP_001918.3:p.(Lys299=)	NC_000002.11:g.220285378G>A	VUS	1 lab	fb045cd36a
18:47110110 LIPG C>T	18	47110110	47110110	C	T	LIPG	c.1342C>T	NM_006033.4	NP_006024.1:p.(Arg448Cys)	NC_000018.9:g.47110110C>T	VUS	1 lab	fb07160df7
14:102445662 DYNC1H1 A>G	14	102445662	102445662	A	G	DYNC1H1	c.351A>G	NM_001376.5	NP_001367.2:p.(Ala117=)	NC_000014.8:g.102445662A>G	(Likely) benign	1 lab	fb0750ac14
12:2760762 CACNA1C C>G	12	2760762	2760762	C	G	CACNA1C	c.3968C>G	NM_001129829.2	NP_001123301.1:p.(Pro1323Arg)	NC_000012.11:g.2760762C>G	(Likely) benign	1 lab	fb10b997c4
1:160209574 DCAF8 G>A	1	160209574	160209574	G	A	DCAF8	c.636C>T	NM_015726.4	NP_056541.2:p.(Ser212=)	NC_000001.10:g.160209574G>A	(Likely) benign	1 lab	fb13c2a711
12:125263048 SCARB1 A>G	12	125263048	125263048	A	G	SCARB1	c.1486T>C	NM_001082959.2	NP_001076428.1:p.(Ser496Pro)	NC_000012.11:g.125263048A>G	(Likely) benign	1 lab	fb15844858
2:61541786 USP34 G>C	2	61541786	61541786	G	C	USP34	c.3476C>G	NM_014709.4	NP_055524.3:p.(Ser1159Ter)	NC_000002.11:g.61541786G>C	VUS	1 lab	fb1b727295
12:40904781 MUC19 A>G	12	40904781	40904781	A	G	MUC19	c.20203A>G	NM_173600.2	NP_775871.2:p.(Ser6735Gly)	NC_000012.11:g.40904781A>G	(Likely) benign	1 lab	fb1bd9897d
19:29699033 UQCRFS1 T>C	19	29699033	29699033	T	C	UQCRFS1	c.247A>G	NM_006003.3	NP_005994.2:p.(Ile83Val)	NC_000019.9:g.29699033T>C	(Likely) benign	1 lab	fb1c4eb9f5
5:127712715 FBN2 G>C	5	127712715	127712715	G	C	FBN2	c.1850-169C>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127712715G>C	(Likely) benign	1 lab	fb1cc055f2
12:122261588 SETD1B C>T	12	122261588	122261588	C	T	SETD1B	c.5103C>T	NM_001353345.2	NP_001340274.1:p.(Tyr1701=)	NC_000012.11:g.122261588C>T	(Likely) benign	1 lab	fb21d5b516
14:76549614 IFT43 G>A	14	76549614	76549614	G	A	IFT43	c.504G>A	NM_052873.3	NP_443105.2:p.(Pro168=)	NC_000014.8:g.76549614G>A	(Likely) benign	1 lab	fb2fcda38b
6:76640787 IMPG1 T>C	6	76640787	76640787	T	C	IMPG1	c.2126A>G	NM_001563.4	NP_001554.2:p.(Glu709Gly)	NC_000006.11:g.76640787T>C	(Likely) benign	1 lab	fb300f6527
14:23888756 MYH7 C>T	14	23888756	23888756	C	T	MYH7	c.3789G>A	NM_000257.4	NP_000248.2:p.(Ala1263=)	NC_000014.8:g.23888756C>T	(Likely) benign	1 lab	fb30964dec
3:195966472 PCYT1A C>T	3	195966472	195966472	C	T	PCYT1A	c.843G>A	NM_005017.4	NP_005008.2:p.(Lys281=)	NC_000003.11:g.195966472C>T	(Likely) benign	1 lab	fb3252317b
2:1481108 TPO G>A	2	1481108	1481108	G	A	TPO	c.1070G>A	NM_000547.6	NP_000538.3:p.(Arg357Gln)	NC_000002.11:g.1481108G>A	VUS	1 lab	fb34fc07e6
20:47991129 KCNB1 G>A	20	47991129	47991129	G	A	KCNB1	c.968C>T	NM_004975.4	NP_004966.1:p.(Thr323Ile)	NC_000020.10:g.47991129G>A	(Likely) pathogenic	1 lab	fb36dfd3e1
7:151661389 GALNTL5 Ref too long to show for this DEL>G	7	151661389	151685444	Ref too long to show for this DEL	G	GALNTL5	c.-39-2902_658+1078del	NM_145292.4	NP_660335.2:p.?	NC_000007.13:g.151661391_151685444del	VUS	1 lab	fb383eece9
2:63666880 WDPCP G>C	2	63666880	63666880	G	C	WDPCP	c.427+11C>G	NM_001354044.2	NP_001340973.1:p.?	NC_000002.11:g.63666880G>C	(Likely) benign	1 lab	fb385ac861
12:21327548 SLCO1B1 A>T	12	21327548	21327548	A	T	SLCO1B1	c.264A>T	NM_006446.5	NP_006437.3:p.(Gly88=)	NC_000012.11:g.21327548A>T	(Likely) benign	1 lab	fb396456d5
12:50501592 GPD1 C>A	12	50501592	50501592	C	A	GPD1	c.846+9C>A	NM_005276.4	NP_005267.2:p.?	NC_000012.11:g.50501592C>A	(Likely) benign	1 lab	fb3aa3df4e
16:960962 LMF1 C>T	16	960962	960962	C	T	LMF1	c.632G>A	NM_022773.4	NP_073610.2:p.(Arg211Gln)	NC_000016.9:g.960962C>T	VUS	1 lab	fb3b578686
2:189857640 COL3A1 G>A	2	189857640	189857640	G	A	COL3A1	c.1024G>A	NM_000090.4	NP_000081.2:p.(Gly342Arg)	NC_000002.11:g.189857640G>A	(Likely) pathogenic	1 lab	fb411ddfba
8:108942631 RSPO2 T>Alt too long to show for this DUP	8	108942631	109058549	T	Alt too long to show for this DUP	RSPO2	c.94+36225_616+27676dup	NM_178565.5	NP_848660.3:p.?	NC_000008.10:g.108942633_109058549dup	VUS	1 lab	fb47ad07bf
11:47366412 MYBPC3 A>G	11	47366412	47366412	A	G	MYBPC3	c.1091-1237T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47366412A>G	(Likely) benign	1 lab	fb4862180b
1:156105052 LMNA G>A	1	156105052	156105052	G	A	LMNA	c.885G>A	NM_170707.4	NP_733821.1:p.(Ser295=)	NC_000001.10:g.156105052G>A	(Likely) benign	1 lab	fb4b647453
7:151874050 KMT2C T>G	7	151874050	151874050	T	G	KMT2C	c.8488A>C	NM_170606.3	NP_733751.2:p.(Asn2830His)	NC_000007.13:g.151874050T>G	(Likely) benign	1 lab	fb4fadfd6d
17:4804851 CHRNE G>GT	17	4804851	4804853	G	GT	CHRNE	c.569dup	NM_000080.4	NP_000071.1:p.(Asn190LysfsTer12)	NC_000017.10:g.4804853dup	(Likely) pathogenic	1 lab	fb529fb9aa
X:129148921 BCORL1 C>T	X	129148921	129148921	C	T	BCORL1	c.2173C>T	NM_001379451.1	NP_001366380.1:p.(Pro725Ser)	NC_000023.10:g.129148921C>T	VUS	1 lab	fb53754c6d
19:11356377 DOCK6 G>A	19	11356377	11356377	G	A	DOCK6	c.885C>T	NM_020812.4	NP_065863.2:p.(Asn295=)	NC_000019.9:g.11356377G>A	(Likely) benign	1 lab	fb53dab56e
18:13198236 MISSING C>Alt too long to show for this DUP	18	13198236	13328988	C	Alt too long to show for this DUP	MISSING				NC_000018.9:g.13198239_13328988dup	VUS	1 lab	fb5aa430be
1:25891697 LDLRAP1 A>G	1	25891697	25891697	A	G	LDLRAP1	c.781A>G	NM_015627.3	NP_056442.2:p.(Arg261Gly)	NC_000001.10:g.25891697A>G	VUS	1 lab	fb5c578ef3
6:109258203 ARMC2 G>C	6	109258203	109258203	G	C	ARMC2	c.1596+1G>C	NM_032131.6	NP_115507.4:p.?	NC_000006.11:g.109258203G>C	(Likely) pathogenic	1 lab	fb5d50965b
14:23902435 MYH7 GTC>G	14	23902435	23902438	GTC	G	MYH7	c.202-1_202del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23902437_23902438del	VUS	1 lab	fb5e292442
4:114722196 MISSING Ref too long to show for this DEL>G	4	114722196	114821843	Ref too long to show for this DEL	G	MISSING				NC_000004.11:g.114722197_114821843del	VUS	1 lab	fb5e6cd4a5
9:107550221 ABCA1 C>T	9	107550221	107550221	C	T	ABCA1	c.6184G>A	NM_005502.4	NP_005493.2:p.(Gly2062Arg)	NC_000009.11:g.107550221C>T	VUS	1 lab	fb6104583a
6:32489929 HLA-DRB5 C>T	6	32489929	32489929	C	T	HLA-DRB5	c.123G>A	NM_002125.4	NP_002116.2:p.(Lys41=)	NC_000006.11:g.32489929C>T	(Likely) benign	1 lab	fb6175dc69
2:44100981 ABCG8 G>A	2	44100981	44100981	G	A	ABCG8	c.1267G>A	NM_022437.3	NP_071882.1:p.(Glu423Lys)	NC_000002.11:g.44100981G>A	VUS	1 lab	fb636c3947
2:230377787 DNER C>Alt too long to show for this DUP	2	230377787	230479637	C	Alt too long to show for this DUP	DNER	c.277-23032_994-136dup	NM_139072.4	NP_620711.3:p.?	NC_000002.11:g.230377789_230479637dup	VUS	1 lab	fb63d2733a
12:22078945 ABCC9 C>T	12	22078945	22078945	C	T	ABCC9	c.337G>A	NM_001377273.1	NP_001364202.1:p.(Val113Ile)	NC_000012.11:g.22078945C>T	VUS	1 lab	fb647304a7
2:179400350 TTN A>G	2	179400350	179400350	A	G	TTN	c.100992T>C	NM_001267550.2	NP_001254479.2:p.(Ala33664=)	NC_000002.11:g.179400350A>G	(Likely) benign	1 lab	fb655e7d0d
21:47704896 MCM3AP G>A	21	47704896	47704896	G	A	MCM3AP	c.305C>T	NM_003906.5	NP_003897.2:p.(Ser102Leu)	NC_000021.8:g.47704896G>A	(Likely) benign	1 lab	fb6ea18c5d
13:32911779 BRCA2 AT>A	13	32911779	32911783	AT	A	BRCA2	c.3291del	NM_000059.4	NP_000050.3:p.(Phe1097LeufsTer7)	NC_000013.10:g.32911783del	(Likely) pathogenic	1 lab	fb7004450e
2:179441831 TTN A>G	2	179441831	179441831	A	G	TTN	c.69231T>C	NM_001267550.2	NP_001254479.2:p.(Leu23077=)	NC_000002.11:g.179441831A>G	(Likely) benign	1 lab	fb70cbe7ef
8:144297392 GPIHBP1 G>A	8	144297392	144297392	G	A	GPIHBP1	c.554G>A	NM_178172.6	NP_835466.2:p.(Ter185=)	NC_000008.10:g.144297392G>A	(Likely) benign	1 lab	fb72142be4
18:11881049 GNAL T>A	18	11881049	11881049	T	A	GNAL	c.1292T>A	NM_182978.4	NP_892023.1:p.(Val431Glu)	NC_000018.9:g.11881049T>A	(Likely) pathogenic	1 lab	fb73484594
9:27548351 C9orf72 G>A	9	27548351	27548351	G	A	C9orf72	c.1329C>T	NM_001256054.3	NP_001242983.1:p.(Gly443=)	NC_000009.11:g.27548351G>A	(Likely) benign	1 lab	fb7799eb93
6:79707184 PHIP C>A	6	79707184	79707184	C	A	PHIP	c.2148G>T	NM_017934.7	NP_060404.4:p.(Leu716=)	NC_000006.11:g.79707184C>A	(Likely) benign	1 lab	fb79be7182
8:59404232 CYP7A1 C>T	8	59404232	59404232	C	T	CYP7A1	c.1317G>A	NM_000780.4	NP_000771.2:p.(Ser439=)	NC_000008.10:g.59404232C>T	(Likely) benign	1 lab	fb7d6c5f22
15:85407729 ALPK3 T>A	15	85407729	85407729	T	A	ALPK3	c.4556T>A	NM_020778.5	NP_065829.4:p.(Leu1519Gln)	NC_000015.9:g.85407729T>A	(Likely) pathogenic	1 lab	fb83872045
19:1621865 TCF3 C>T	19	1621865	1621865	C	T	TCF3	c.927G>A	NM_003200.5	NP_003191.1:p.(Pro309=)	NC_000019.9:g.1621865C>T	(Likely) benign	1 lab	fb87bd5e63
19:54307219 NLRP12 G>T	19	54307219	54307219	G	T	NLRP12	c.2572C>A	NM_001277129.1	NP_001264058.1:p.(Leu858Ile)	NC_000019.9:g.54307219G>T	VUS	1 lab	fb8a95d5f9
15:28230306 OCA2 C>T	15	28230306	28230306	C	T	OCA2	c.1268G>A	NM_000275.3	NP_000266.2:p.(Trp423Ter)	NC_000015.9:g.28230306C>T	(Likely) pathogenic	1 lab	fb945b546f
1:145369198 MISSING Ref too long to show for this DEL>T	1	145369198	145803834	Ref too long to show for this DEL	T	MISSING				NC_000001.10:g.145369199_145803834del	(Likely) pathogenic	1 lab	fb99a6fba3
2:44040564 ABCG5 A>G	2	44040564	44040564	A	G	ABCG5	c.1763-116T>C	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44040564A>G	(Likely) benign	1 lab	fba042a28b
1:180804003 XPR1 C>T	1	180804003	180804003	C	T	XPR1	c.1135-7C>T	NM_004736.4	NP_004727.2:p.?	NC_000001.10:g.180804003C>T	(Likely) benign	1 lab	fbd767cea0
17:16637901 MISSING Ref too long to show for this DEL>T	17	16637901	18708864	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.16637902_18708864del	(Likely) pathogenic	1 lab	fba3c9248e
12:53770421 MISSING T>Alt too long to show for this DUP	12	53770421	54007964	T	Alt too long to show for this DUP	MISSING				NC_000012.11:g.53770422_54007964dup	VUS	1 lab	fba4ca6d73
19:11227665 LDLR C>A	19	11227665	11227665	C	A	LDLR	c.1836C>A	NM_000527.5	NP_000518.1:p.(Ala612=)	NC_000019.9:g.11227665C>A	VUS	1 lab	fba9254de6
22:31363841 MORC2 G>C	22	31363841	31363841	G	C	MORC2	c.35C>G	NM_001303256.3	NP_001290185.1:p.(Ala12Gly)	NC_000022.10:g.31363841G>C	(Likely) benign	1 lab	fbaa91018c
3:2087009 MISSING Ref too long to show for this DEL>G	3	2087009	2410685	Ref too long to show for this DEL	G	MISSING				NC_000003.11:g.2087011_2410685del	(Likely) pathogenic	1 lab	fbab72b557
6:44233363 MISSING GA>G	6	44233363	44233364	GA	G	MISSING				NC_000006.11:g.44233364del	(Likely) pathogenic	1 lab	fbaf4dadd9
19:43031458 CEACAM1 G>T	19	43031458	43031458	G	T	CEACAM1	c.159C>A	NM_001712.5	NP_001703.2:p.(Leu53=)	NC_000019.9:g.43031458G>T	(Likely) benign	1 lab	fbb62896ec
16:904660 LMF1 C>T	16	904660	904660	C	T	LMF1	c.1576G>A	NM_022773.4	NP_073610.2:p.(Gly526Ser)	NC_000016.9:g.904660C>T	(Likely) benign	1 lab	fbb7f1cbb4
6:137191159 PEX7 CTTTTA>C	6	137191159	137191165	CTTTTA	C	PEX7	c.747+20_747+24del	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137191161_137191165del	(Likely) benign	1 lab	fbbc149aed
11:125885287 CDON T>C	11	125885287	125885287	T	C	CDON	c.1047A>G	NM_001243597.2	NP_001230526.1:p.(Ala349=)	NC_000011.9:g.125885287T>C	(Likely) benign	1 lab	fbc34976c3
1:215916531 USH2A C>T	1	215916531	215916531	C	T	USH2A	c.11536G>A	NM_206933.4	NP_996816.3:p.(Ala3846Thr)	NC_000001.10:g.215916531C>T	VUS	1 lab	fbcb45985a
6:44233361 MISSING CG>C	6	44233361	44233363	CG	C	MISSING				NC_000006.11:g.44233363del	(Likely) pathogenic	1 lab	fbd0b8c3f7
16:81397460 GAN A>T	16	81397460	81397460	A	T	GAN	c.1148A>T	NM_022041.4	NP_071324.1:p.(Asp383Val)	NC_000016.9:g.81397460A>T	VUS	1 lab	fbd3f22da2
2:189858074 COL3A1 G>A	2	189858074	189858074	G	A	COL3A1	c.1051-13G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189858074G>A	(Likely) benign	1 lab	fbdab6f2da
2:219647120 CYP27A1 T>A	2	219647120	219647120	T	A	CYP27A1	c.215T>A	NM_000784.4	NP_000775.1:p.(Leu72Gln)	NC_000002.11:g.219647120T>A	VUS	1 lab	fbdbfa8ed6
2:73653561 ALMS1 A>G	2	73653561	73653561	A	G	ALMS1	c.1241-20A>G	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73653561A>G	(Likely) benign	1 lab	fbddfe223c
8:144295676 GPIHBP1 C>G	8	144295676	144295676	C	G	GPIHBP1	c.53-21C>G	NM_178172.6	NP_835466.2:p.?	NC_000008.10:g.144295676C>G	VUS	1 lab	fbe6c0961c
5:131893155 RAD50 C>T	5	131893155	131893155	C	T	RAD50	c.129+10C>T	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131893155C>T	(Likely) benign	1 lab	fbe7a6500f
8:59404283 CYP7A1 G>A	8	59404283	59404283	G	A	CYP7A1	c.1266C>T	NM_000780.4	NP_000771.2:p.(Thr422=)	NC_000008.10:g.59404283G>A	(Likely) benign	1 lab	fbe85cc5e1
2:21232734 APOB C>T	2	21232734	21232734	C	T	APOB	c.7006G>A	NM_000384.3	NP_000375.3:p.(Ala2336Thr)	NC_000002.11:g.21232734C>T	VUS	1 lab	fbebf027b8
2:179589094 TTN G>A	2	179589094	179589094	G	A	TTN	c.21008C>T	NM_001267550.2	NP_001254479.2:p.(Ser7003Phe)	NC_000002.11:g.179589094G>A	VUS	1 lab	fbec77189e
7:128494860 FLNC C>T	7	128494860	128494860	C	T	FLNC	c.7029C>T	NM_001458.5	NP_001449.3:p.(Gly2343=)	NC_000007.13:g.128494860C>T	(Likely) benign	1 lab	fc02101688
2:21232181 APOB C>T	2	21232181	21232181	C	T	APOB	c.7559G>A	NM_000384.3	NP_000375.3:p.(Arg2520Gln)	NC_000002.11:g.21232181C>T	VUS	1 lab	fc037d9562
2:211507399 CPS1 GA>G	2	211507399	211507404	GA	G	CPS1	c.3141+15del	NM_001875.5	NP_001866.2:p.?	NC_000002.11:g.211507404del	(Likely) benign	1 lab	fc082b47c3
11:2606501 KCNQ1 C>G	11	2606501	2606501	C	G	KCNQ1	c.1092C>G	NM_000218.3	NP_000209.2:p.(Phe364Leu)	NC_000011.9:g.2606501C>G	VUS	1 lab	fc1568f5f0
11:62105473 ASRGL1 C>T	11	62105473	62105473	C	T	ASRGL1	c.24C>T	NM_001083926.2	NP_001077395.1:p.(His8=)	NC_000011.9:g.62105473C>T	(Likely) benign	1 lab	fc15e47e3b
16:81411448 GAN G>A	16	81411448	81411448	G	A	GAN	c.*247G>A	NM_022041.4	NP_071324.1:p.?	NC_000016.9:g.81411448G>A	(Likely) benign	1 lab	fc1a0258b0
12:133362221 GOLGA3 Ref too long to show for this DEL>C	12	133362221	133402171	Ref too long to show for this DEL	C	GOLGA3	c.-184+3218_3123+703del	NM_001389683.1	NP_001376612.1:p.?	NC_000012.11:g.133362222_133402171del	VUS	1 lab	fc1af67ced
2:21225555 APOB G>A	2	21225555	21225555	G	A	APOB	c.12739C>T	NM_000384.3	NP_000375.3:p.(Gln4247Ter)	NC_000002.11:g.21225555G>A	(Likely) pathogenic	1 lab	fc1b1327c5
8:19818773 LPL G>T	8	19818773	19818773	G	T	LPL	c.1322+179G>T	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19818773G>T	(Likely) benign	1 lab	fc1de375d3
18:45456541 SMAD2 G>A	18	45456541	45456541	G	A	SMAD2	c.-54+191C>T	NM_005901.6	NP_005892.1:p.?	NC_000018.9:g.45456541G>A	(Likely) benign	1 lab	fc1ee79fc0
16:81411116 GAN G>A	16	81411116	81411116	G	A	GAN	c.1709G>A	NM_022041.4	NP_071324.1:p.(Cys570Tyr)	NC_000016.9:g.81411116G>A	(Likely) pathogenic	1 lab	fc20e99ff5
2:21242644 APOB C>T	2	21242644	21242644	C	T	APOB	c.2950G>A	NM_000384.3	NP_000375.3:p.(Ala984Thr)	NC_000002.11:g.21242644C>T	VUS	1 lab	fc216fc029
20:62038560 KCNQ2 T>C	20	62038560	62038560	T	C	KCNQ2	c.2056A>G	NM_172107.4	NP_742105.1:p.(Ile686Val)	NC_000020.10:g.62038560T>C	VUS	1 lab	fc299a91a8
1:236912554 ACTN2 A>T	1	236912554	236912554	A	T	ACTN2	c.1022A>T	NM_001278344.2	NP_001265273.1:p.(Glu341Val)	NC_000001.10:g.236912554A>T	VUS	1 lab	fc31df015d
3:32201125 GPD1L T>G	3	32201125	32201125	T	G	GPD1L	c.918T>G	NM_015141.4	NP_055956.1:p.(Ala306=)	NC_000003.11:g.32201125T>G	VUS	1 lab	fc3427c2a4
1:235600774 TBCE G>A	1	235600774	235600774	G	A	TBCE	c.1254G>A	NM_001287801.2	NP_001274730.1:p.(Thr418=)	NC_000001.10:g.235600774G>A	(Likely) benign	1 lab	fc35e463b3
9:34267317 KIF24 Ref too long to show for this DEL>A	9	34267317	34301211	Ref too long to show for this DEL	A	KIF24	c.814-4098_1443+1937del	NM_194313.4	NP_919289.2:p.?	NC_000009.11:g.34267319_34301211del	VUS	1 lab	fc370a9fa1
18:77457943 CTDP1 G>A	18	77457943	77457943	G	A	CTDP1	c.576G>A	NM_048368.4	NP_430255.2:p.(Thr192=)	NC_000018.9:g.77457943G>A	(Likely) benign	1 lab	fc410676d8
6:112465976 LAMA4 T>A	6	112465976	112465976	T	A	LAMA4	c.2493+20A>T	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112465976T>A	(Likely) benign	1 lab	fc426da10b
3:38596991 SCN5A C>A	3	38596991	38596991	C	A	SCN5A	c.4542+156G>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38596991C>A	(Likely) benign	1 lab	fc4a9a5aae
6:129762003 LAMA2 A>G	6	129762003	129762003	A	G	LAMA2	c.6128A>G	NM_000426.4	NP_000417.3:p.(Gln2043Arg)	NC_000006.11:g.129762003A>G	(Likely) benign	1 lab	fc501a4fd7
6:73001715 RIMS1 A>G	6	73001715	73001715	A	G	RIMS1	c.3816A>G	NM_014989.6	NP_055804.2:p.(Pro1272=)	NC_000006.11:g.73001715A>G	(Likely) benign	1 lab	fc5127e487
15:23891564 MAGEL2 C>T	15	23891564	23891564	C	T	MAGEL2	c.1326G>A	NM_019066.5	NP_061939.3:p.(Pro442=)	NC_000015.9:g.23891564C>T	(Likely) benign	1 lab	fc51b8a7b6
1:150531959 ADAMTSL4 G>A	1	150531959	150531959	G	A	ADAMTSL4	c.2943+17G>A	NM_019032.6	NP_061905.2:p.?	NC_000001.10:g.150531959G>A	(Likely) benign	1 lab	fc51d59995
12:83133523 MISSING Ref too long to show for this DEL>T	12	83133523	83785172	Ref too long to show for this DEL	T	MISSING				NC_000012.11:g.83133524_83785172del	VUS	1 lab	fc53ae0aae
15:85360539 ALPK3 G>T	15	85360539	85360539	G	T	ALPK3				NC_000015.9:g.85360539G>T	VUS	1 lab	fc5e180c55
5:127664689 FBN2 T>C	5	127664689	127664689	T	C	FBN2	c.4346-176A>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127664689T>C	(Likely) benign	1 lab	fc5e1f1ce4
3:38655243 SCN5A C>T	3	38655243	38655243	C	T	SCN5A	c.694G>A	NM_198056.3	NP_932173.1:p.(Val232Ile)	NC_000003.11:g.38655243C>T	(Likely) benign	1 lab	fc64dedd52
20:3869843 PANK2 C>T	20	3869843	3869843	C	T	PANK2	c.96C>T	NM_153638.4	NP_705902.2:p.(Thr32=)	NC_000020.10:g.3869843C>T	(Likely) benign	1 lab	fc6d69c2cb
17:48272100 COL1A1 G>A	17	48272100	48272100	G	A	COL1A1	c.1443C>T	NM_000088.4	NP_000079.2:p.(Pro481=)	NC_000017.10:g.48272100G>A	(Likely) benign	1 lab	fc74462bd4
12:64879272 TBK1 C>T	12	64879272	64879272	C	T	TBK1	c.1227C>T	NM_013254.4	NP_037386.1:p.(Asp409=)	NC_000012.11:g.64879272C>T	(Likely) benign	1 lab	fc7503ee5c
8:42868455 HOOK3 CT>C	8	42868455	42868469	CT	C	HOOK3	c.1945-3del	NM_032410.4	NP_115786.1:p.?	NC_000008.10:g.42868469del	(Likely) benign	1 lab	fc7adffb26
14:68200545 RDH12 C>T	14	68200545	68200545	C	T	RDH12	c.931C>T	NM_152443.3	NP_689656.2:p.(Leu311=)	NC_000014.8:g.68200545C>T	(Likely) benign	1 lab	fc8191bbf8
2:27305651 EMILIN1 C>G	2	27305651	27305651	C	G	EMILIN1	c.1212C>G	NM_007046.4	NP_008977.1:p.(Ala404=)	NC_000002.11:g.27305651C>G	(Likely) benign	1 lab	fc8a4e1140
10:71129006 HK1 A>G	10	71129006	71129006	A	G	HK1	c.710A>G	NM_001322365.2	NP_001309294.1:p.(Asn237Ser)	NC_000010.10:g.71129006A>G	VUS	1 lab	fc8bd20f09
10:94392326 KIF11 C>A	10	94392326	94392326	C	A	KIF11	c.1578C>A	NM_004523.4	NP_004514.2:p.(His526Gln)	NC_000010.10:g.94392326C>A	(Likely) benign	1 lab	fc92f52baa
1:25883712 LDLRAP1 A>G	1	25883712	25883712	A	G	LDLRAP1	c.413A>G	NM_015627.3	NP_056442.2:p.(Asn138Ser)	NC_000001.10:g.25883712A>G	(Likely) benign	1 lab	fc9dad3bcf
17:48263705 COL1A1 G>A	17	48263705	48263705	G	A	COL1A1	c.3978C>T	NM_000088.4	NP_000079.2:p.(Phe1326=)	NC_000017.10:g.48263705G>A	(Likely) benign	1 lab	fca0e02017
13:95131317 DCT G>A	13	95131317	95131317	G	A	DCT	c.193C>T	NM_001922.5	NP_001913.2:p.(Arg65Ter)	NC_000013.10:g.95131317G>A	VUS	1 lab	fca402f2e6
6:76728583 IMPG1 TA>T	6	76728583	76728597	TA	T	IMPG1	c.667-9del	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76728597del	(Likely) benign	1 lab	fca4920046
3:50378090 RASSF1 G>A	3	50378090	50378090	G	A	RASSF1	c.147C>T	NM_007182.5	NP_009113.3:p.(Gly49=)	NC_000003.11:g.50378090G>A	(Likely) benign	1 lab	fcaece4557
2:21251267 APOB C>T	2	21251267	21251267	C	T	APOB	c.1761G>A	NM_000384.3	NP_000375.3:p.(Glu587=)	NC_000002.11:g.21251267C>T	(Likely) benign	1 lab	fd6584f9e4
8:133935621 TG T>A	8	133935621	133935621	T	A	TG	c.4567T>A	NM_003235.5	NP_003226.4:p.(Cys1523Ser)	NC_000008.10:g.133935621T>A	VUS	1 lab	fcb6d296c8
19:39008205 RYR1 G>T	19	39008205	39008205	G	T	RYR1	c.9892G>T	NM_000540.3	NP_000531.2:p.(Ala3298Ser)	NC_000019.9:g.39008205G>T	VUS	1 lab	fcbc9064bd
21:47424274 COL6A1 TCTCCTGCCCTGCC>T	21	47424274	47424296	TCTCCTGCCCTGCC	T	COL6A1	c.*357_*369del	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47424284_47424296del	(Likely) benign	1 lab	fcbccfe73e
14:77493785 IRF2BPL C>T	14	77493785	77493785	C	T	IRF2BPL	c.351G>A	NM_024496.4	NP_078772.1:p.(Gln117=)	NC_000014.8:g.77493785C>T	(Likely) benign	1 lab	fcbedda82c
19:55341703 KIR3DL1 C>A	19	55341703	55341703	C	A	KIR3DL1	c.1308C>A	NM_013289.3	NP_037421.2:p.(Pro436=)	NC_000019.9:g.55341703C>A	(Likely) benign	1 lab	fcc0c740d9
2:179547505 TTN G>A	2	179547505	179547505	G	A	TTN	c.33013C>T	NM_001267550.2	NP_001254479.2:p.(Pro11005Ser)	NC_000002.11:g.179547505G>A	VUS	1 lab	fcc181a512
10:112544556 RBM20 C>A	10	112544556	112544556	C	A	RBM20	c.1436C>A	NM_001134363.3	NP_001127835.2:p.(Ala479Asp)	NC_000010.10:g.112544556C>A	VUS	1 lab	fcc363e161
X:119510284 MISSING Ref too long to show for this DEL>A	X	119510284	119541058	Ref too long to show for this DEL	A	MISSING				NC_000023.10:g.119510286_119541058del	VUS	1 lab	fcc4a3bd37
19:11222747 LDLR T>A	19	11222747	11222747	T	A	LDLR	c.1186+432T>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222747T>A	(Likely) benign	1 lab	fcc6630dd6
3:38805061 SCN10A C>T	3	38805061	38805061	C	T	SCN10A	c.626G>A	NM_006514.4	NP_006505.4:p.(Arg209His)	NC_000003.11:g.38805061C>T	VUS	1 lab	fcc6ef7ce5
10:13166075 OPTN C>T	10	13166075	13166075	C	T	OPTN	c.963C>T	NM_001008211.1	NP_001008212.1:p.(Ser321=)	NC_000010.10:g.13166075C>T	(Likely) benign	1 lab	fd04da14bf
22:50901696 SBF1 G>A	22	50901696	50901696	G	A	SBF1	c.1899+16C>T	NM_002972.4	NP_002963.2:p.?	NC_000022.10:g.50901696G>A	(Likely) benign	1 lab	fccb389cc6
4:647944 PDE6B G>C	4	647944	647944	G	C	PDE6B	c.927+1G>C	NM_000283.4	NP_000274.3:p.?	NC_000004.11:g.647944G>C	(Likely) pathogenic	1 lab	fccda3d038
11:47361358 MYBPC3 G>A	11	47361358	47361358	G	A	MYBPC3	c.1928-17C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47361358G>A	(Likely) benign	1 lab	fcd239e0bc
15:89865078 POLG G>C	15	89865078	89865078	G	C	POLG	c.2487C>G	NM_002693.3	NP_002684.1:p.(Pro829=)	NC_000015.9:g.89865078G>C	(Likely) benign	1 lab	fcdba83d0f
X:41091682 USP9X C>T	X	41091682	41091682	C	T	USP9X	c.7618C>T	NM_001039590.3	NP_001034679.2:p.(His2540Tyr)	NC_000023.10:g.41091682C>T	VUS	1 lab	fcdd38573c
3:193363563 OPA1 GT>G	3	193363563	193363569	GT	G	OPA1	c.1734del	NM_130837.3	NP_570850.2:p.(Gln579ArgfsTer6)	NC_000003.11:g.193363569del	(Likely) pathogenic	1 lab	fce2c517b3
X:32408171 DMD T>A	X	32408171	32408171	T	A	DMD	c.3975+17A>T	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.32408171T>A	(Likely) benign	1 lab	fcef9906ac
1:18041666 MISSING A>Alt too long to show for this DUP	1	18041666	18199184	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.18041667_18199184dup	VUS	1 lab	fcf9dff20e
16:1004062 LMF1 G>GCCTCCTACACGTTCACACAGACACAC	16	1004062	1004063	G	GCCTCCTACACGTTCACACAGACACAC	LMF1	c.-52+294_-52+295insGTGTGTCTGTGTGAACGTGTAGGAGG	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004062_1004063insCCTCCTACACGTTCACACAGACACAC	(Likely) benign	1 lab	fcfd8cc0c0
1:2316486 MORN1 G>A	1	2316486	2316486	G	A	MORN1	c.468C>T	NM_024848.3	NP_079124.1:p.(Asp156=)	NC_000001.10:g.2316486G>A	(Likely) benign	1 lab	fcfe557f49
8:145739587 RECQL4 G>A	8	145739587	145739587	G	A	RECQL4	c.1864C>T	NM_004260.4	NP_004251.4:p.(Leu622=)	NC_000008.10:g.145739587G>A	(Likely) benign	1 lab	fd03205879
2:21263926 APOB G>A	2	21263926	21263926	G	A	APOB	c.267C>T	NM_000384.3	NP_000375.3:p.(Ser89=)	NC_000002.11:g.21263926G>A	(Likely) benign	1 lab	fd0c54a117
22:26861483 HPS4 A>T	22	26861483	26861483	A	T	HPS4	c.741T>A	NM_022081.6	NP_071364.4:p.(Pro247=)	NC_000022.10:g.26861483A>T	(Likely) benign	1 lab	fd11a9084e
14:23859380 MYH6 G>C	14	23859380	23859380	G	C	MYH6	c.3618C>G	NM_002471.4	NP_002462.2:p.(Gly1206=)	NC_000014.8:g.23859380G>C	(Likely) benign	1 lab	fd1771a149
4:1196171 MISSING G>Alt too long to show for this DUP	4	1196171	1237016	G	Alt too long to show for this DUP	MISSING				NC_000004.11:g.1196174_1237016dup	VUS	1 lab	fd196fb514
19:11221443 LDLR C>T	19	11221443	11221443	C	T	LDLR	c.1056C>T	NM_000527.5	NP_000518.1:p.(Cys352=)	NC_000019.9:g.11221443C>T	(Likely) benign	1 lab	fd200d771e
6:16145529 MYLIP G>A	6	16145529	16145529	G	A	MYLIP	c.1229G>A	NM_013262.4	NP_037394.2:p.(Ser410Asn)	NC_000006.11:g.16145529G>A	(Likely) benign	1 lab	fd20cddfab
10:90988105 LIPA T>A	10	90988105	90988105	T	A	LIPA	c.280A>T	NM_000235.4	NP_000226.2:p.(Asn94Tyr)	NC_000010.10:g.90988105T>A	VUS	1 lab	fd21829def
16:1798610 MAPK8IP3 C>T	16	1798610	1798610	C	T	MAPK8IP3	c.1105C>T	NM_001318852.2	NP_001305781.1:p.(Gln369Ter)	NC_000016.9:g.1798610C>T	VUS	1 lab	fd22874a7e
17:56439865 RNF43 C>T	17	56439865	56439865	C	T	RNF43	c.687+40G>A	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56439865C>T	(Likely) benign	1 lab	fd294ac021
2:61369290 MISSING Ref too long to show for this DEL>A	2	61369290	61391470	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.61369291_61391470del	VUS	1 lab	fd2e3462a3
18:10696474 PIEZO2 G>A	18	10696474	10696474	G	A	PIEZO2	c.6552C>T	NM_022068.4	NP_071351.2:p.(Ser2184=)	NC_000018.9:g.10696474G>A	(Likely) benign	1 lab	fd349cefa7
2:179604656 TTN T>C	2	179604656	179604656	T	C	TTN	c.13304A>G	NM_001267550.2	NP_001254479.2:p.(Glu4435Gly)	NC_000002.11:g.179604656T>C	VUS	1 lab	fd379f1b9f
19:49692315 TRPM4 C>G	19	49692315	49692315	C	G	TRPM4	c.1986C>G	NM_017636.4	NP_060106.2:p.(Asp662Glu)	NC_000019.9:g.49692315C>G	VUS	1 lab	fd3a8c5c5c
16:904669 LMF1 G>A	16	904669	904669	G	A	LMF1	c.1168C>T	NM_001352018.2	NP_001338947.1:p.(Arg390Cys)	NC_000016.9:g.904669G>A	VUS	1 lab	fd41d2f873
2:1695788 PXDN A>G	2	1695788	1695788	A	G	PXDN	c.273-17T>C	NM_012293.3	NP_036425.1:p.?	NC_000002.11:g.1695788A>G	(Likely) benign	1 lab	fd42133782
14:88431966 GALC C>T	14	88431966	88431966	C	T	GALC	c.916G>A	NM_000153.4	NP_000144.2:p.(Ala306Thr)	NC_000014.8:g.88431966C>T	VUS	1 lab	fd43139316
X:38145655 RPGR TCTC>T	X	38145655	38145660	TCTC	T	RPGR	c.2594_2596del	NM_001034853.2	NP_001030025.1:p.(Gly865del)	NC_000023.10:g.38145658_38145660del	(Likely) benign	1 lab	fd450e6248
2:179425629 TTN G>T	2	179425629	179425629	G	T	TTN	c.85230C>A	NM_001267550.2	NP_001254479.2:p.(Asp28410Glu)	NC_000002.11:g.179425629G>T	VUS	1 lab	fd457b29a7
9:137703922 COL5A1 G>A	9	137703922	137703922	G	A	COL5A1	c.3691-373G>A	NM_000093.5	NP_000084.3:p.?	NC_000009.11:g.137703922G>A	(Likely) benign	1 lab	fd4ad87876
4:52904402 SGCB AGCC>A	4	52904402	52904416	AGCC	A	SGCB	c.21_23del	NM_000232.5	NP_000223.1:p.(Ala9del)	NC_000004.11:g.52904414_52904416del	(Likely) benign	1 lab	fd4dcd33af
13:101733727 NALCN Ref too long to show for this DEL>A	13	101733727	101770876	Ref too long to show for this DEL	A	NALCN	c.2192+6083_3885+150del	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101733728_101770876del	VUS	1 lab	fd538e9062
16:1005418 LMF1 G>A	16	1005418	1005418	G	A	LMF1	c.-361-752C>T	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1005418G>A	(Likely) benign	1 lab	fd543719ec
15:72104193 NR2E3 G>A	15	72104193	72104193	G	A	NR2E3	c.333G>A	NM_016346.4	NP_057430.1:p.(Ala111=)	NC_000015.9:g.72104193G>A	(Likely) benign	1 lab	fd566cf27e
10:94413572 KIF11 A>G	10	94413572	94413572	A	G	KIF11	c.*19A>G	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94413572A>G	(Likely) benign	1 lab	fd5a95e59f
9:111911955 FRRS1L A>AT	9	111911955	111911959	A	AT	FRRS1L	c.283dup	NM_014334.4	NP_055149.3:p.(Ile95AsnfsTer10)	NC_000009.11:g.111911959dup	(Likely) pathogenic	1 lab	fd6222b81d
6:75827180 COL12A1 G>A	6	75827180	75827180	G	A	COL12A1	c.7437C>T	NM_004370.6	NP_004361.3:p.(His2479=)	NC_000006.11:g.75827180G>A	(Likely) benign	1 lab	fd6fdf91af
8:118830819 EXT1 A>Alt too long to show for this DUP	8	118830819	118843942	A	Alt too long to show for this DUP	EXT1	c.1165-1354_1537-51dup	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.118830820_118843942dup	VUS	1 lab	fd7178baa8
11:71238755 KRTAP5-7 G>A	11	71238755	71238755	G	A	KRTAP5-7	c.409G>A	NM_001012503.2	NP_001012521.1:p.(Gly137Arg)	NC_000011.9:g.71238755G>A	(Likely) benign	1 lab	fd7284f945
7:158445075 MISSING T>Alt too long to show for this DUP	7	158445075	158943194	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.158445076_158943194dup	VUS	1 lab	fd76d22037
9:107665956 ABCA1 GC>G	9	107665956	107665958	GC	G	ABCA1	c.4del	NM_005502.4	NP_005493.2:p.(Ala2LeufsTer6)	NC_000009.11:g.107665958del	(Likely) pathogenic	1 lab	fd792b91cf
19:11233951 LDLR G>A	19	11233951	11233951	G	A	LDLR	c.2242G>A	NM_000527.5	NP_000518.1:p.(Asp748Asn)	NC_000019.9:g.11233951G>A	(Likely) benign	1 lab	fd7bb99c32
19:17741047 UNC13A A>G	19	17741047	17741047	A	G	UNC13A	c.3576T>C	NM_001080421.3	NP_001073890.2:p.(Val1192=)	NC_000019.9:g.17741047A>G	(Likely) benign	1 lab	fd7d24661c
2:145168532 MISSING C>Alt too long to show for this DUP	2	145168532	145633113	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.145168534_145633113dup	VUS	1 lab	fd7d4390d8
17:48434015 XYLT2 C>T	17	48434015	48434015	C	T	XYLT2	c.1626C>T	NM_022167.4	NP_071450.2:p.(Asp542=)	NC_000017.10:g.48434015C>T	(Likely) benign	1 lab	fd809882bc
7:72583140 MISSING Ref too long to show for this DEL>T	7	72583140	74146927	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.72583141_74146927del	(Likely) pathogenic	1 lab	fd81407fdc
5:138147908 CTNNA1 A>G	5	138147908	138147908	A	G	CTNNA1	c.505A>G	NM_001903.5	NP_001894.2:p.(Asn169Asp)	NC_000005.9:g.138147908A>G	VUS	1 lab	fd8d8b176f
6:56480708 DST C>T	6	56480708	56480708	C	T	DST	c.7557G>A	NM_001723.7	NP_001714.1:p.(Gln2519=)	NC_000006.11:g.56480708C>T	(Likely) benign	1 lab	fd915a9fb0
2:179399037 TTN A>C	2	179399037	179399037	A	C	TTN	c.102305T>G	NM_001267550.2	NP_001254479.2:p.(Leu34102Arg)	NC_000002.11:g.179399037A>C	VUS	1 lab	fd9b478982
7:150671805 KCNH2 T>G	7	150671805	150671805	T	G	KCNH2	c.301A>C	NM_000238.4	NP_000229.1:p.(Lys101Gln)	NC_000007.13:g.150671805T>G	(Likely) pathogenic	1 lab	fd9dc11203
12:122748202 MISSING C>Alt too long to show for this DUP	12	122748202	122758713	C	Alt too long to show for this DUP	MISSING				NC_000012.11:g.122748204_122758713dup	VUS	1 lab	fd9f070a37
22:49010147 MISSING A>Alt too long to show for this DUP	22	49010147	49269145	A	Alt too long to show for this DUP	MISSING				NC_000022.10:g.49010149_49269145dup	(Likely) pathogenic	1 lab	fda3016fc4
13:32914102 BRCA2 CAGTAA>C	13	32914102	32914112	CAGTAA	C	BRCA2	c.5616_5620del	NM_000059.4	NP_000050.3:p.(Lys1872AsnfsTer2)	NC_000013.10:g.32914108_32914112del	(Likely) pathogenic	1 lab	fda408bc26
9:107549144 ABCA1 T>C	9	107549144	107549144	T	C	ABCA1	c.6308+10A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107549144T>C	(Likely) benign	1 lab	fda7f9c5e9
15:44861597 SPG11 G>A	15	44861597	44861597	G	A	SPG11	c.6584C>T	NM_025137.4	NP_079413.3:p.(Pro2195Leu)	NC_000015.9:g.44861597G>A	VUS	1 lab	fda83ee557
20:23614633 CST3 CT>C	20	23614633	23614636	CT	C	CST3	c.360del	NM_001288614.2	NP_001275543.1:p.(Ala121HisfsTer16)	NC_000020.10:g.23614636del	(Likely) pathogenic	1 lab	fda8b23f1b
22:30332257 MTMR3 Ref too long to show for this DEL>A	22	30332257	30360514	Ref too long to show for this DEL	A	MTMR3	c.-137-20767_-84-6451del	NM_021090.4	NP_066576.1:p.?	NC_000022.10:g.30332258_30360514del	VUS	1 lab	fda8c53421
2:198363441 HSPD1 T>C	2	198363441	198363441	T	C	HSPD1	c.132A>G	NM_002156.5	NP_002147.2:p.(Val44=)	NC_000002.11:g.198363441T>C	(Likely) benign	1 lab	fdab5ba730
15:85400497 ALPK3 G>A	15	85400497	85400497	G	A	ALPK3	c.2528G>A	NM_020778.5	NP_065829.4:p.(Arg843Gln)	NC_000015.9:g.85400497G>A	VUS	1 lab	fdabc7a1ed
8:43054556 HGSNAT C>T	8	43054556	43054556	C	T	HGSNAT	c.1752C>T	NM_152419.3	NP_689632.2:p.(Val584=)	NC_000008.10:g.43054556C>T	(Likely) benign	1 lab	fdacdf40b5
2:179622259 TTN T>C	2	179622259	179622259	T	C	TTN	c.10678+10A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179622259T>C	(Likely) benign	1 lab	fdae74534c
14:21897440 CHD8 G>A	14	21897440	21897440	G	A	CHD8	c.898C>T	NM_001170629.2	NP_001164100.1:p.(Gln300Ter)	NC_000014.8:g.21897440G>A	(Likely) pathogenic	1 lab	fdb14e1e88
16:1004950 LMF1 G>C	16	1004950	1004950	G	C	LMF1	c.-361-284C>G	NM_001352018.2	NP_001338947.1:p.?	NC_000016.9:g.1004950G>C	(Likely) benign	1 lab	fdb1c9ad5b
1:152882952 IVL GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAC>G	1	152882952	152883008	GAGCAGCAGGAGGGGCAGCTGGAGCTCCCAC	G	IVL	c.706_735del	NM_005547.4	NP_005538.2:p.(Pro236_Leu245del)	NC_000001.10:g.152882979_152883008del	(Likely) benign	1 lab	fdb2d924f2
6:112455663 LAMA4 C>T	6	112455663	112455663	C	T	LAMA4	c.3536+6G>A	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112455663C>T	(Likely) benign	1 lab	fdb6501569
17:68172153 KCNJ2 C>T	17	68172153	68172153	C	T	KCNJ2	c.973C>T	NM_000891.3	NP_000882.1:p.(Arg325Cys)	NC_000017.10:g.68172153C>T	VUS	1 lab	fdc06ac56c
16:3830774 CREBBP T>G	16	3830774	3830774	T	G	CREBBP	c.1782A>C	NM_004380.3	NP_004371.2:p.(Glu594Asp)	NC_000016.9:g.3830774T>G	VUS	1 lab	fdc0cc112a
5:151055695 SPARC G>A	5	151055695	151055695	G	A	SPARC	c.55C>T	NM_003118.4	NP_003109.1:p.(Pro19Ser)	NC_000005.9:g.151055695G>A	(Likely) benign	1 lab	fdc2a5f0b1
11:116662033 APOA5 TG>T	11	116662033	116662037	TG	T	APOA5	c.162-251del	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662037del	(Likely) benign	1 lab	fdc3fdbb0f
1:43215836 P3H1 T>C	1	43215836	43215836	T	C	P3H1	c.1720+21A>G	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43215836T>C	(Likely) benign	1 lab	fdc40919db
17:40693239 NAGLU T>C	17	40693239	40693239	T	C	NAGLU	c.1021+15T>C	NM_000263.4	NP_000254.2:p.?	NC_000017.10:g.40693239T>C	(Likely) benign	1 lab	fdc571e039
19:54385846 PRKCG T>G	19	54385846	54385846	T	G	PRKCG	c.98T>G	NM_002739.5	NP_002730.1:p.(Val33Gly)	NC_000019.9:g.54385846T>G	VUS	1 lab	fdd3be8e6c
2:21231695 APOB C>A	2	21231695	21231695	C	A	APOB	c.8045G>T	NM_000384.3	NP_000375.3:p.(Ser2682Ile)	NC_000002.11:g.21231695C>A	VUS	1 lab	fdd8d59497
12:125284705 SCARB1 G>A	12	125284705	125284705	G	A	SCARB1	c.1093C>T	NM_001367981.1	NP_001354910.1:p.(Gln365Ter)	NC_000012.11:g.125284705G>A	VUS	1 lab	fdd9e745c0
12:2622119 CACNA1C C>T	12	2622119	2622119	C	T	CACNA1C	c.1359C>T	NM_001167623.2	NP_001161095.1:p.(Asp453=)	NC_000012.11:g.2622119C>T	(Likely) benign	1 lab	fddab5a28b
16:67976560 LCAT G>A	16	67976560	67976560	G	A	LCAT	c.523+14C>T	NM_000229.2	NP_000220.1:p.?	NC_000016.9:g.67976560G>A	(Likely) benign	1 lab	fdde4024ed
5:148431688 SH3TC2 CTT>C	5	148431688	148431691	CTT	C	SH3TC2	c.151+15_151+16del	NM_024577.4	NP_078853.2:p.?	NC_000005.9:g.148431690_148431691del	(Likely) benign	1 lab	fde569a94d
14:21798486 RPGRIP1 G>A	14	21798486	21798486	G	A	RPGRIP1	c.3178G>A	NM_020366.4	NP_065099.3:p.(Glu1060Lys)	NC_000014.8:g.21798486G>A	(Likely) benign	1 lab	fde5ae0f72
11:116662299 APOA5 C>T	11	116662299	116662299	C	T	APOA5	c.161+3G>A	NM_052968.5	NP_443200.2:p.?	NC_000011.9:g.116662299C>T	(Likely) benign	1 lab	fde5b82fc1
8:19796845 LPL G>A	8	19796845	19796845	G	A	LPL	c.-107G>A	NM_000237.3	NP_000228.1:p.?	NC_000008.10:g.19796845G>A	(Likely) benign	1 lab	fde918ecff
8:30954265 WRN C>T	8	30954265	30954265	C	T	WRN	c.1899-19C>T	NM_000553.6	NP_000544.2:p.?	NC_000008.10:g.30954265C>T	(Likely) benign	1 lab	fdfa1cf240
11:33272506 MISSING C>Alt too long to show for this DUP	11	33272506	33667279	C	Alt too long to show for this DUP	MISSING				NC_000011.9:g.33272507_33667279dup	VUS	1 lab	fe01080c1e
10:68535200 CTNNA3 A>T	10	68535200	68535200	A	T	CTNNA3	c.1128+2T>A	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68535200A>T	VUS	1 lab	fe38d2656c
12:51740407 CELA1 CATAA>C	12	51740407	51740412	CATAA	C	CELA1	c.12_15del	NM_001971.6	NP_001962.3:p.(Tyr5AspfsTer14)	NC_000012.11:g.51740409_51740412del	(Likely) benign	1 lab	fe0464f5cd
19:11234027 LDLR A>G	19	11234027	11234027	A	G	LDLR	c.2311+7A>G	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11234027A>G	(Likely) benign	1 lab	fe055a6d32
19:11215922 LDLR TTTC>T	19	11215922	11215925	TTTC	T	LDLR	c.341_343del	NM_000527.5	NP_000518.1:p.(Phe114_Arg115delinsCys)	NC_000019.9:g.11215923_11215925del	(Likely) pathogenic	1 lab	fe0567bb3e
9:107590883 ABCA1 T>C	9	107590883	107590883	T	C	ABCA1	c.2115+314A>G	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107590883T>C	(Likely) benign	1 lab	fe05ee98e2
2:219679379 CYP27A1 A>C	2	219679379	219679379	A	C	CYP27A1	c.1375A>C	NM_000784.4	NP_000775.1:p.(Arg459=)	NC_000002.11:g.219679379A>C	(Likely) benign	1 lab	fe120b02ff
1:21900303 ALPL C>T	1	21900303	21900303	C	T	ALPL	c.997+11C>T	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21900303C>T	(Likely) benign	1 lab	fe16ac5d69
15:45409472 DUOXA2 C>T	15	45409472	45409472	C	T	DUOXA2	c.738C>T	NM_207581.4	NP_997464.2:p.(Tyr246=)	NC_000015.9:g.45409472C>T	(Likely) benign	1 lab	fe16ba7f45
5:133944043 SAR1B A>AT	5	133944043	133944059	A	AT	SAR1B	c.480+18dup	NM_001033503.3	NP_001028675.1:p.?	NC_000005.9:g.133944059dup	(Likely) benign	1 lab	fe1b558a15
1:216019213 USH2A A>G	1	216019213	216019213	A	G	USH2A	c.9008T>C	NM_206933.4	NP_996816.3:p.(Val3003Ala)	NC_000001.10:g.216019213A>G	VUS	1 lab	fe1e50a106
19:11144213 SMARCA4 C>T	19	11144213	11144213	C	T	SMARCA4	c.3774+20C>T	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11144213C>T	(Likely) benign	1 lab	fe2936e2fe
19:45412208 APOE C>G	19	45412208	45412208	C	G	APOE	c.733C>G	NM_001302688.2	NP_001289617.1:p.(Gln245Glu)	NC_000019.9:g.45412208C>G	VUS	1 lab	fe2d21689f
19:40909621 PRX A>G	19	40909621	40909621	A	G	PRX	c.176T>C	NM_020956.2	NP_066007.1:p.(Leu59Pro)	NC_000019.9:g.40909621A>G	(Likely) pathogenic	1 lab	fe2d9398b4
11:68700808 IGHMBP2 T>C	11	68700808	68700808	T	C	IGHMBP2	c.1277T>C	NM_002180.3	NP_002171.2:p.(Leu426Pro)	NC_000011.9:g.68700808T>C	(Likely) pathogenic	1 lab	fe3045a0dd
19:33149910 ANKRD27 A>G	19	33149910	33149910	A	G	ANKRD27	c.12T>C	NM_032139.3	NP_115515.2:p.(Tyr4=)	NC_000019.9:g.33149910A>G	(Likely) benign	1 lab	fe31eb45e3
6:75890812 COL12A1 C>T	6	75890812	75890812	C	T	COL12A1	c.2007G>A	NM_004370.6	NP_004361.3:p.(Ala669=)	NC_000006.11:g.75890812C>T	(Likely) benign	1 lab	fe33e805e2
1:19557342 EMC1 C>T	1	19557342	19557342	C	T	EMC1	c.2060G>A	NM_015047.3	NP_055862.1:p.(Arg687Gln)	NC_000001.10:g.19557342C>T	(Likely) benign	1 lab	fe33fb65bd
10:89623742 PTEN C>G	10	89623742	89623742	C	G	PTEN	c.-485C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623742C>G	(Likely) benign	1 lab	fe3c40729c
2:179577863 TTN C>T	2	179577863	179577863	C	T	TTN	c.23266G>A	NM_133378.4	NP_596869.4:p.(Ala7756Thr)	NC_000002.11:g.179577863C>T	VUS	1 lab	fe3c4ac00e
16:77468512 ADAMTS18 G>T	16	77468512	77468512	G	T	ADAMTS18	c.81C>A	NM_199355.4	NP_955387.1:p.(Arg27=)	NC_000016.9:g.77468512G>T	(Likely) benign	1 lab	fe3d257032
2:179647718 TTN G>A	2	179647718	179647718	G	A	TTN	c.2915C>T	NM_001267550.2	NP_001254479.2:p.(Pro972Leu)	NC_000002.11:g.179647718G>A	VUS	1 lab	fe4364aac5
X:41203024 DDX3X C>T	X	41203024	41203024	C	T	DDX3X	c.714C>T	NM_001193416.3	NP_001180345.1:p.(Ile238=)	NC_000023.10:g.41203024C>T	(Likely) benign	1 lab	fe46c4c74f
1:54371976 DIO1 C>T	1	54371976	54371976	C	T	DIO1	c.681+9C>T	NM_000792.7	NP_000783.2:p.?	NC_000001.10:g.54371976C>T	(Likely) benign	1 lab	fe50e4a9a0
16:15826781 MYH11 G>A	16	15826781	15826781	G	A	MYH11	c.3507-216C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15826781G>A	(Likely) benign	1 lab	fe50eac9b2
2:179472230 TTN G>A	2	179472230	179472230	G	A	TTN	c.45481C>T	NM_133378.4	NP_596869.4:p.(Leu15161=)	NC_000002.11:g.179472230G>A	(Likely) benign	1 lab	fe530db0a4
10:68936749 CTNNA3 G>A	10	68936749	68936749	G	A	CTNNA3	c.1047+3326C>T	NM_013266.4	NP_037398.2:p.?	NC_000010.10:g.68936749G>A	(Likely) benign	1 lab	fe548544b3
4:74285272 ALB A>G	4	74285272	74285272	A	G	ALB	c.1701A>G	NM_000477.7	NP_000468.1:p.(Gln567=)	NC_000004.11:g.74285272A>G	(Likely) benign	1 lab	fe57284970
17:15168570 PMP22 C>T	17	15168570	15168570	C	T	PMP22	c.-134G>A	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15168570C>T	(Likely) benign	1 lab	fe57af5849
15:73659915 HCN4 T>A	15	73659915	73659915	T	A	HCN4	c.697A>T	NM_005477.3	NP_005468.1:p.(Met233Leu)	NC_000015.9:g.73659915T>A	VUS	1 lab	fe59f8ea87
X:153609098 EMD G>C	X	153609098	153609098	G	C	EMD	c.400-15G>C	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153609098G>C	(Likely) benign	1 lab	fe5a9a62f2
X:153578135 FLNA C>T	X	153578135	153578135	C	T	FLNA	c.7434G>A	NM_001110556.2	NP_001104026.1:p.(Glu2478=)	NC_000023.10:g.153578135C>T	(Likely) benign	1 lab	fe637be07b
7:138591758 KIAA1549 A>G	7	138591758	138591758	A	G	KIAA1549	c.3367T>C	NM_020910.3	NP_065961.2:p.(Leu1123=)	NC_000007.13:g.138591758A>G	(Likely) benign	1 lab	fe6a0e0a22
9:135203910 SETX T>TTCA	9	135203910	135203928	T	TTCA	SETX	c.3072_3074dup	NM_015046.7	NP_055861.3:p.(Asp1024dup)	NC_000009.11:g.135203926_135203928dup	(Likely) benign	1 lab	fe6bc5be61
14:102498685 DYNC1H1 G>A	14	102498685	102498685	G	A	DYNC1H1	c.9960G>A	NM_001376.5	NP_001367.2:p.(Ala3320=)	NC_000014.8:g.102498685G>A	(Likely) benign	1 lab	fe6bdf3f07
17:38244626 THRA G>A	17	38244626	38244626	G	A	THRA	c.855G>A	NM_003250.6	NP_003241.2:p.(Glu285=)	NC_000017.10:g.38244626G>A	(Likely) benign	1 lab	fe6c87b521
7:150649773 KCNH2 G>A	7	150649773	150649773	G	A	KCNH2	c.1297C>T	NM_000238.4	NP_000229.1:p.(Leu433=)	NC_000007.13:g.150649773G>A	(Likely) benign	1 lab	fe6f19d7ca
16:67974095 LCAT C>T	16	67974095	67974095	C	T	LCAT	c.1035G>A	NM_000229.2	NP_000220.1:p.(Thr345=)	NC_000016.9:g.67974095C>T	(Likely) benign	1 lab	fe77b4de44
14:23871731 MYH6 C>G	14	23871731	23871731	C	G	MYH6	c.1083G>C	NM_002471.4	NP_002462.2:p.(Gly361=)	NC_000014.8:g.23871731C>G	(Likely) benign	1 lab	fe7a6296f0
19:55377348 KIR3DL2 G>C	19	55377348	55377348	G	C	KIR3DL2	c.1089G>C	NM_006737.4	NP_006728.2:p.(Trp363Cys)	NC_000019.9:g.55377348G>C	(Likely) benign	1 lab	fe7d0a43ae
20:57484813 GNAS C>T	20	57484813	57484813	C	T	GNAS	c.2722C>T	NM_080425.4	NP_536350.2:p.(Arg908Cys)	NC_000020.10:g.57484813C>T	VUS	1 lab	fe7d38a21e
21:46623342 MISSING T>Alt too long to show for this DUP	21	46623342	46842469	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.46623343_46842469dup	VUS	1 lab	fe7e59d9d6
2:179406012 TTN T>C	2	179406012	179406012	T	C	TTN	c.97792A>G	NM_001267550.2	NP_001254479.2:p.(Ile32598Val)	NC_000002.11:g.179406012T>C	VUS	1 lab	fe81da09a2
X:153648442 TAFAZZIN G>A	X	153648442	153648442	G	A	TAFAZZIN	c.646+9G>A	NM_000116.5	NP_000107.1:p.?	NC_000023.10:g.153648442G>A	(Likely) benign	1 lab	fe833f32cd
15:40705225 IVD C>T	15	40705225	40705225	C	T	IVD	c.723C>T	NM_002225.5	NP_002216.3:p.(Asp241=)	NC_000015.9:g.40705225C>T	(Likely) benign	1 lab	ff6740ed06
14:21788303 RPGRIP1 C>T	14	21788303	21788303	C	T	RPGRIP1	c.1434C>T	NM_020366.4	NP_065099.3:p.(His478=)	NC_000014.8:g.21788303C>T	(Likely) benign	1 lab	fe8588207f
2:212248791 ERBB4 G>A	2	212248791	212248791	G	A	ERBB4	c.3482-6C>T	NM_005235.3	NP_005226.1:p.?	NC_000002.11:g.212248791G>A	(Likely) benign	1 lab	fe8c45a616
18:45394746 SMAD2 T>A	18	45394746	45394746	T	A	SMAD2	c.603A>T	NM_005901.6	NP_005892.1:p.(Pro201=)	NC_000018.9:g.45394746T>A	(Likely) benign	1 lab	fe8de40a32
2:21255320 APOB C>T	2	21255320	21255320	C	T	APOB	c.1258G>A	NM_000384.3	NP_000375.3:p.(Glu420Lys)	NC_000002.11:g.21255320C>T	(Likely) benign	1 lab	fe905c03ef
19:1220501 STK11 C>T	19	1220501	1220501	C	T	STK11	c.594C>T	NM_000455.5	NP_000446.1:p.(Ala198=)	NC_000019.9:g.1220501C>T	(Likely) benign	1 lab	fe9595e705
2:44047110 ABCG5 G>A	2	44047110	44047110	G	A	ABCG5	c.1593C>T	NM_022436.3	NP_071881.1:p.(Asn531=)	NC_000002.11:g.44047110G>A	(Likely) benign	1 lab	fe96c4dfa3
7:128488830 FLNC C>T	7	128488830	128488830	C	T	FLNC	c.4738-17C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128488830C>T	(Likely) benign	1 lab	fea140c663
2:21224960 APOB T>C	2	21224960	21224960	T	C	APOB	c.13334A>G	NM_000384.3	NP_000375.3:p.(His4445Arg)	NC_000002.11:g.21224960T>C	VUS	1 lab	fea1fa41be
X:39933309 BCOR C>A	X	39933309	39933309	C	A	BCOR	c.1290G>T	NM_001123385.2	NP_001116857.1:p.(Gln430His)	NC_000023.10:g.39933309C>A	VUS	1 lab	fea2cc0bb8
1:197390799 CRB1 G>T	1	197390799	197390799	G	T	CRB1	c.1634G>T	NM_001257965.2	NP_001244894.1:p.(Gly545Val)	NC_000001.10:g.197390799G>T	(Likely) pathogenic	1 lab	fea4ffe4b1
5:178559254 ADAMTS2 A>G	5	178559254	178559254	A	G	ADAMTS2	c.2267T>C	NM_014244.5	NP_055059.2:p.(Val756Ala)	NC_000005.9:g.178559254A>G	(Likely) benign	1 lab	fea9625865
5:127646057 FBN2 C>T	5	127646057	127646057	C	T	FBN2	c.5075-257G>A	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127646057C>T	(Likely) benign	1 lab	feaadad868
17:48274444 COL1A1 A>C	17	48274444	48274444	A	C	COL1A1	c.751-20T>G	NM_000088.4	NP_000079.2:p.?	NC_000017.10:g.48274444A>C	(Likely) benign	1 lab	feababcf2c
4:13485753 RAB28 T>A	4	13485753	13485753	T	A	RAB28	c.22A>T	NM_004249.4	NP_004240.2:p.(Ser8Cys)	NC_000004.11:g.13485753T>A	(Likely) benign	1 lab	feaeffd29c
19:17985291 SLC5A5 C>A	19	17985291	17985291	C	A	SLC5A5	c.424-12C>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17985291C>A	(Likely) benign	1 lab	feb0f2d265
15:48905370 FBN1 C>A	15	48905370	48905370	C	A	FBN1	c.165-81G>T	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48905370C>A	(Likely) benign	1 lab	feb178df91
16:90045250 MISSING A>Alt too long to show for this DUP	16	90045250	90163114	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.90045252_90163114dup	(Likely) pathogenic	1 lab	feb19a77ce
10:75830787 VCL G>A	10	75830787	75830787	G	A	VCL	c.445G>A	NM_014000.3	NP_054706.1:p.(Glu149Lys)	NC_000010.10:g.75830787G>A	VUS	1 lab	feb4a97158
12:57940372 DCTN2 T>C	12	57940372	57940372	T	C	DCTN2	c.36+439A>G	NM_001261412.2	NP_001248341.1:p.?	NC_000012.11:g.57940372T>C	(Likely) benign	1 lab	feb6a445dd
7:150648799 KCNH2 G>A	7	150648799	150648799	G	A	KCNH2	c.1682C>T	NM_000238.4	NP_000229.1:p.(Ala561Val)	NC_000007.13:g.150648799G>A	(Likely) pathogenic	1 lab	febcf21d0e
5:178563060 ADAMTS2 T>G	5	178563060	178563060	T	G	ADAMTS2	c.1952-17A>C	NM_014244.5	NP_055059.2:p.?	NC_000005.9:g.178563060T>G	(Likely) benign	1 lab	febd301ca6
2:179576048 TTN T>C	2	179576048	179576048	T	C	TTN	c.27915A>G	NM_001267550.2	NP_001254479.2:p.(Arg9305=)	NC_000002.11:g.179576048T>C	(Likely) benign	1 lab	febe43a04a
17:38244509 THRA C>T	17	38244509	38244509	C	T	THRA	c.738C>T	NM_199334.5	NP_955366.1:p.(Asp246=)	NC_000017.10:g.38244509C>T	(Likely) benign	1 lab	fec1526352
2:179399810 TTN T>C	2	179399810	179399810	T	C	TTN	c.101532A>G	NM_001267550.2	NP_001254479.2:p.(Thr33844=)	NC_000002.11:g.179399810T>C	(Likely) benign	1 lab	fec820029d
6:112440365 LAMA4 A>AT	6	112440365	112440370	A	AT	LAMA4	c.4793dup	NM_002290.5	NP_002281.3:p.(Asn1598LysfsTer5)	NC_000006.11:g.112440370dup	VUS	1 lab	fec9862832
10:69407255 CTNNA3 G>GT	10	69407255	69407256	G	GT	CTNNA3	c.16_17insA	NM_013266.4	NP_037398.2:p.(Pro6HisfsTer81)	NC_000010.10:g.69407255_69407256insT	VUS	1 lab	feca366b8d
12:124417989 DNAH10 C>T	12	124417989	124417989	C	T	DNAH10	c.13054C>T	NM_207437.3	NP_997320.2:p.(Arg4352Cys)	NC_000012.11:g.124417989C>T	(Likely) benign	1 lab	fecae94188
12:88443053 RLIG1 C>A	12	88443053	88443053	C	A	RLIG1	c.*854C>A	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443053C>A	(Likely) benign	1 lab	fecc38b21c
19:49684670 TRPM4 C>T	19	49684670	49684670	C	T	TRPM4	c.1215C>T	NM_017636.4	NP_060106.2:p.(Arg405=)	NC_000019.9:g.49684670C>T	(Likely) benign	1 lab	fece43206a
11:68700824 IGHMBP2 C>T	11	68700824	68700824	C	T	IGHMBP2	c.1293C>T	NM_002180.3	NP_002171.2:p.(Gly431=)	NC_000011.9:g.68700824C>T	VUS	1 lab	fed73b07a2
7:126457667 GRM8 Ref too long to show for this DEL>T	7	126457667	126536661	Ref too long to show for this DEL	T	GRM8	c.1156+5937_1157-47549del	NM_000845.3	NP_000836.2:p.?	NC_000007.13:g.126457670_126536661del	VUS	1 lab	fed766bc5b
16:88497142 ZNF469 G>A	16	88497142	88497142	G	A	ZNF469	c.3264G>A	NM_001367624.2	NP_001354553.1:p.(Arg1088=)	NC_000016.9:g.88497142G>A	(Likely) benign	1 lab	fede1ea0e6
3:178916519 PIK3CA T>C	3	178916519	178916519	T	C	PIK3CA	c.-76-19T>C	NM_006218.4	NP_006209.2:p.?	NC_000003.11:g.178916519T>C	(Likely) benign	1 lab	fedfa90829
3:100029233 MISSING T>Alt too long to show for this DUP	3	100029233	100083379	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.100029234_100083379dup	(Likely) pathogenic	1 lab	fee0504b0c
1:20971911 PINK1 G>C	1	20971911	20971911	G	C	PINK1	c.960-142G>C	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20971911G>C	(Likely) benign	1 lab	fee0d30033
14:64066394 WDR89 A>G	14	64066394	64066394	A	G	WDR89	c.267T>C	NM_001258272.2	NP_001245201.1:p.(Cys89=)	NC_000014.8:g.64066394A>G	(Likely) benign	1 lab	fee2bf6a90
2:179425258 TTN C>A	2	179425258	179425258	C	A	TTN	c.85601G>T	NM_001267550.2	NP_001254479.2:p.(Gly28534Val)	NC_000002.11:g.179425258C>A	VUS	1 lab	fee4fb385f
5:148407973 SH3TC2 A>G	5	148407973	148407973	A	G	SH3TC2	c.1322T>C	NM_024577.4	NP_078853.2:p.(Leu441Pro)	NC_000005.9:g.148407973A>G	VUS	1 lab	feeadb93ab
3:38593054 SCN5A G>A	3	38593054	38593054	G	A	SCN5A	c.4814-5C>T	NM_198056.3	NP_932173.1:p.?	NC_000003.11:g.38593054G>A	(Likely) benign	1 lab	fef1ef8812
X:149814309 MTM1 G>A	X	149814309	149814309	G	A	MTM1	c.832G>A	NM_000252.3	NP_000243.1:p.(Asp278Asn)	NC_000023.10:g.149814309G>A	(Likely) pathogenic	1 lab	feffc8151c
16:29351850 MISSING Ref too long to show for this DEL>A	16	29351850	30190029	Ref too long to show for this DEL	A	MISSING				NC_000016.9:g.29351851_30190029del	(Likely) pathogenic	1 lab	ff00f039d8
7:128494628 FLNC G>A	7	128494628	128494628	G	A	FLNC	c.6889G>A	NM_001458.5	NP_001449.3:p.(Val2297Met)	NC_000007.13:g.128494628G>A	(Likely) pathogenic	1 lab	ff05c3989a
15:31619442 KLF13 C>T	15	31619442	31619442	C	T	KLF13	c.27C>T	NM_015995.4	NP_057079.2:p.(His9=)	NC_000015.9:g.31619442C>T	(Likely) benign	1 lab	ff07dcddc5
17:40693076 NAGLU C>T	17	40693076	40693076	C	T	NAGLU	c.873C>T	NM_000263.4	NP_000254.2:p.(Ile291=)	NC_000017.10:g.40693076C>T	(Likely) benign	1 lab	ff0921b7d8
5:16616901 RETREG1 G>T	5	16616901	16616901	G	T	RETREG1	c.180C>A	NM_001034850.3	NP_001030022.1:p.(Ala60=)	NC_000005.9:g.16616901G>T	(Likely) benign	1 lab	ff104b60a5
7:128487796 FLNC A>G	7	128487796	128487796	A	G	FLNC	c.4334A>G	NM_001458.5	NP_001449.3:p.(Lys1445Arg)	NC_000007.13:g.128487796A>G	VUS	1 lab	ff1075167e
14:76429438 TGFB3 C>G	14	76429438	76429438	C	G	TGFB3	c.926+221G>C	NM_003239.5	NP_003230.1:p.?	NC_000014.8:g.76429438C>G	(Likely) benign	1 lab	ff1267a229
3:38592997 SCN5A G>C	3	38592997	38592997	G	C	SCN5A	c.4866C>G	NM_198056.3	NP_932173.1:p.(Phe1622Leu)	NC_000003.11:g.38592997G>C	VUS	1 lab	ff13b0f9e2
16:961042 LMF1 C>G	16	961042	961042	C	G	LMF1	c.552G>C	NM_022773.4	NP_073610.2:p.(Gly184=)	NC_000016.9:g.961042C>G	(Likely) benign	1 lab	ff1597ed43
9:94570519 MISSING T>Alt too long to show for this DUP	9	94570519	95099977	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.94570520_95099977dup	VUS	1 lab	ff189bd4be
9:79908435 VPS13A TATTAA>T	9	79908435	79908444	TATTAA	T	VPS13A	c.3507+16_3507+20del	NM_033305.3	NP_150648.2:p.?	NC_000009.11:g.79908440_79908444del	(Likely) benign	1 lab	ff195d9b6a
6:76734995 IMPG1 G>A	6	76734995	76734995	G	A	IMPG1	c.498-20C>T	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76734995G>A	(Likely) benign	1 lab	ff19844669
11:108201161 ATM C>T	11	108201161	108201161	C	T	ATM	c.7515+13C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108201161C>T	(Likely) benign	1 lab	ff209dd799
11:1018015 MUC6 A>T	11	1018015	1018015	A	T	MUC6	c.4786T>A	NM_005961.3	NP_005952.2:p.(Phe1596Ile)	NC_000011.9:g.1018015A>T	(Likely) benign	1 lab	ff22c9cddb
11:117052610 SIDT2 C>T	11	117052610	117052610	C	T	SIDT2	c.393C>T	NM_001040455.2	NP_001035545.1:p.(Tyr131=)	NC_000011.9:g.117052610C>T	(Likely) benign	1 lab	ff23b7a276
20:57251299 STX16 C>T	20	57251299	57251299	C	T	STX16	c.930C>T	NM_001001433.3	NP_001001433.1:p.(Val310=)	NC_000020.10:g.57251299C>T	(Likely) benign	1 lab	ff286efebb
13:114434325 GRK1 C>T	13	114434325	114434325	C	T	GRK1	c.1194+9C>T	NM_002929.3	NP_002920.1:p.?	NC_000013.10:g.114434325C>T	(Likely) benign	1 lab	ff288d9cba
19:11221447 LDLR G>A	19	11221447	11221447	G	A	LDLR	c.1060G>A	NM_000527.5	NP_000518.1:p.(Asp354Asn)	NC_000019.9:g.11221447G>A	(Likely) pathogenic	1 lab	ff2ad2435d
2:179566283 TTN G>A	2	179566283	179566283	G	A	TTN	c.26838C>T	NM_133378.4	NP_596869.4:p.(Thr8946=)	NC_000002.11:g.179566283G>A	(Likely) benign	1 lab	ff301646af
9:107547622 ABCA1 C>G	9	107547622	107547622	C	G	ABCA1	c.6645+55G>C	NM_005502.4	NP_005493.2:p.?	NC_000009.11:g.107547622C>G	(Likely) benign	1 lab	ff3197b5d6
18:28671081 DSC2 T>G	18	28671081	28671081	T	G	DSC2	c.384A>C	NM_004949.5	NP_004940.1:p.(Lys128Asn)	NC_000018.9:g.28671081T>G	VUS	1 lab	ff341e6df2
18:47107934 LIPG C>T	18	47107934	47107934	C	T	LIPG	c.943C>T	NM_006033.4	NP_006024.1:p.(Arg315Cys)	NC_000018.9:g.47107934C>T	VUS	1 lab	ff35d5b2c9
9:4117759 GLIS3 Ref too long to show for this DEL>G	9	4117759	4125948	Ref too long to show for this DEL	G	GLIS3	c.389-6_1710+8del	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.4117761_4125948del	(Likely) pathogenic	1 lab	ff36a6a298
7:128496456 FLNC A>T	7	128496456	128496456	A	T	FLNC	c.7252-116A>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128496456A>T	(Likely) benign	1 lab	ff3bee938c
19:11222047 LDLR C>T	19	11222047	11222047	C	T	LDLR	c.1061-143C>T	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11222047C>T	(Likely) benign	1 lab	ff3db1fa08
18:56586710 ZNF532 G>A	18	56586710	56586710	G	A	ZNF532	c.1191G>A	NM_001353526.2	NP_001340455.1:p.(Ala397=)	NC_000018.9:g.56586710G>A	(Likely) benign	1 lab	ff3e4ff5d4
2:219000565 CXCR2 C>T	2	219000565	219000565	C	T	CXCR2	c.1041C>T	NM_001557.4	NP_001548.1:p.(Ser347=)	NC_000002.11:g.219000565C>T	(Likely) benign	1 lab	ff4062dfc6
1:197326047 CRB1 T>G	1	197326047	197326047	T	G	CRB1	c.868T>G	NM_001257965.2	NP_001244894.1:p.(Ser290Ala)	NC_000001.10:g.197326047T>G	(Likely) benign	1 lab	ff40e2e9a9
12:122248222 SETD1B C>T	12	122248222	122248222	C	T	SETD1B	c.1371C>T	NM_001353345.2	NP_001340274.1:p.(Pro457=)	NC_000012.11:g.122248222C>T	(Likely) benign	1 lab	ff6a0e7f5d
X:32553738 DMD Ref too long to show for this DEL>A	X	32553738	32974468	Ref too long to show for this DEL	A	DMD	c.93+63788_2168+9537del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32553739_32974468del	(Likely) pathogenic	1 lab	ff4c114286
1:218611168 TGFB2 T>A	1	218611168	218611168	T	A	TGFB2	c.1170+330T>A	NM_001135599.4	NP_001129071.1:p.?	NC_000001.10:g.218611168T>A	(Likely) benign	1 lab	ff4d41a24f
1:66102623 LEPR C>T	1	66102623	66102623	C	T	LEPR	c.3423C>T	NM_002303.6	NP_002294.2:p.(Tyr1141=)	NC_000001.10:g.66102623C>T	(Likely) benign	1 lab	ff4ee9472e
11:47357100 MYBPC3 A>G	11	47357100	47357100	A	G	MYBPC3	c.2737+328T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357100A>G	(Likely) benign	1 lab	ff50d6c4eb
11:76901091 MYO7A C>T	11	76901091	76901091	C	T	MYO7A	c.3657C>T	NM_000260.4	NP_000251.3:p.(Gly1219=)	NC_000011.9:g.76901091C>T	(Likely) benign	1 lab	ff50e06029
16:46755120 MYLK3 A>T	16	46755120	46755120	A	T	MYLK3	c.1915-15T>A	NM_182493.3	NP_872299.2:p.?	NC_000016.9:g.46755120A>T	VUS	1 lab	ff51227362
2:224987569 MISSING Ref too long to show for this DEL>A	2	224987569	230994244	Ref too long to show for this DEL	A	MISSING				NC_000002.11:g.224987572_230994244del	(Likely) pathogenic	1 lab	ff53306944
18:29122738 DSG2 G>T	18	29122738	29122738	G	T	DSG2	c.2257G>T	NM_001943.5	NP_001934.2:p.(Ala753Ser)	NC_000018.9:g.29122738G>T	VUS	1 lab	ff59222e68
12:33030988 PKP2 G>A	12	33030988	33030988	G	A	PKP2	c.826C>T	NM_004572.4	NP_004563.2:p.(Pro276Ser)	NC_000012.11:g.33030988G>A	VUS	1 lab	ff5cf05bcb
X:107977528 IRS4 C>CT	X	107977528	107977529	C	CT	IRS4	c.2046dup	NM_003604.2	NP_003595.1:p.(Ala683SerfsTer11)	NC_000023.10:g.107977529dup	(Likely) pathogenic	1 lab	ff5e85c3ab
14:88454782 GALC A>C	14	88454782	88454782	A	C	GALC	c.264+17T>G	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88454782A>C	(Likely) benign	1 lab	ff5f83eb53
8:19813362 LPL G>A	8	19813362	19813362	G	A	LPL	c.786G>A	NM_000237.3	NP_000228.1:p.(Gln262=)	NC_000008.10:g.19813362G>A	(Likely) benign	1 lab	ff6222d8a4
12:79986479 PAWR G>GA	12	79986479	79986489	G	GA	PAWR	c.937-7dup	NM_002583.4	NP_002574.2:p.?	NC_000012.11:g.79986489dup	(Likely) benign	1 lab	ff62f4446f
11:2189843 TH C>T	11	2189843	2189843	C	T	TH	c.458G>A	NM_199292.3	NP_954986.2:p.(Arg153Gln)	NC_000011.9:g.2189843C>T	(Likely) benign	1 lab	ff660cc7e2
20:25657558 ZNF337 C>T	20	25657558	25657558	C	T	ZNF337	c.366G>A	NM_001290261.2	NP_001277190.1:p.(Glu122=)	NC_000020.10:g.25657558C>T	(Likely) benign	1 lab	ff6bfc50ee
17:36486581 GPR179 G>A	17	36486581	36486581	G	A	GPR179	c.2871C>T	NM_001004334.4	NP_001004334.3:p.(Thr957=)	NC_000017.10:g.36486581G>A	(Likely) benign	1 lab	ff6ca87c5e
1:74801689 TNNI3K C>A	1	74801689	74801689	C	A	TNNI3K	c.544-6C>A	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74801689C>A	(Likely) benign	1 lab	ff73701406
7:94040351 COL1A2 T>G	7	94040351	94040351	T	G	COL1A2	c.1252-17T>G	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94040351T>G	(Likely) benign	1 lab	ff743ea468
16:15870186 MYH11 C>T	16	15870186	15870186	C	T	MYH11	c.812-153G>A	NM_001040113.2	NP_001035202.1:p.?	NC_000016.9:g.15870186C>T	(Likely) benign	1 lab	ff74949b68
11:73071529 ARHGEF17 C>T	11	73071529	73071529	C	T	ARHGEF17	c.4371C>T	NM_014786.4	NP_055601.2:p.(Asp1457=)	NC_000011.9:g.73071529C>T	(Likely) benign	1 lab	ff75f4c9e5
16:68771388 CDH1 G>A	16	68771388	68771388	G	A	CDH1	c.48+22G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68771388G>A	(Likely) benign	1 lab	ff79da7f69
2:25065212 ADCY3 G>A	2	25065212	25065212	G	A	ADCY3	c.867C>T	NM_001320613.2	NP_001307542.1:p.(Asp289=)	NC_000002.11:g.25065212G>A	(Likely) benign	1 lab	ff7a50151a
15:23891462 MAGEL2 TGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCG>T	15	23891462	23891521	TGGGGCCTGGCGGATCACAGGTGGGGCCTGGCGGATCACAGCG	T	MAGEL2	c.1386_1427del	NM_019066.5	NP_061939.3:p.(Ala463_Pro476del)	NC_000015.9:g.23891480_23891521del	(Likely) benign	1 lab	ff7c9edc98
3:33055876 GLB1 G>C	3	33055876	33055876	G	C	GLB1	c.1624-74C>G	NM_001317040.2	NP_001303969.2:p.?	NC_000003.11:g.33055876G>C	(Likely) benign	1 lab	ff7d38f8a7
X:153296411 MECP2 CCTTCA>C	X	153296411	153296417	CCTTCA	C	MECP2	c.863_867del	NM_004992.4	NP_004983.1:p.(Val288GlyfsTer41)	NC_000023.10:g.153296413_153296417del	(Likely) pathogenic	1 lab	ff7e11d7c2
8:68076699 CSPP1 A>G	8	68076699	68076699	A	G	CSPP1	c.2703A>G	NM_001363131.2	NP_001350060.1:p.(Gln901=)	NC_000008.10:g.68076699A>G	(Likely) benign	1 lab	ff819befde
17:79803060 P4HB A>C	17	79803060	79803060	A	C	P4HB	c.1406T>G	NM_000918.4	NP_000909.2:p.(Phe469Cys)	NC_000017.10:g.79803060A>C	VUS	1 lab	ff83605377
2:179497257 TTN A>C	2	179497257	179497257	A	C	TTN	c.43476T>G	NM_001267550.2	NP_001254479.2:p.(Ile14492Met)	NC_000002.11:g.179497257A>C	VUS	1 lab	ff83ddaf23
7:81765996 CACNA2D1 CA>C	7	81765996	81766006	CA	C	CACNA2D1	c.355-5del	NM_000722.4	NP_000713.2:p.?	NC_000007.13:g.81766006del	(Likely) benign	1 lab	ff840f430c
15:58834167 LIPC G>A	15	58834167	58834167	G	A	LIPC	c.456+1G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58834167G>A	VUS	1 lab	ff86119ddc
5:110097362 SLC25A46 G>T	5	110097362	110097362	G	T	SLC25A46	c.1137G>T	NM_138773.4	NP_620128.1:p.(Glu379Asp)	NC_000005.9:g.110097362G>T	(Likely) benign	1 lab	ff87545c2c
3:16636093 DAZL T>TA	3	16636093	16636107	T	TA	DAZL	c.631-4dup	NM_001190811.2	NP_001177740.1:p.?	NC_000003.11:g.16636107dup	(Likely) benign	1 lab	ff88b4f7f4
17:15162410 PMP22 C>G	17	15162410	15162410	C	G	PMP22	c.178+1G>C	NM_000304.4	NP_000295.1:p.?	NC_000017.10:g.15162410C>G	(Likely) pathogenic	1 lab	ff892b913b
15:73615061 HCN4 C>T	15	73615061	73615061	C	T	HCN4	c.3373G>A	NM_005477.3	NP_005468.1:p.(Gly1125Ser)	NC_000015.9:g.73615061C>T	VUS	1 lab	ff8d20fc55
13:110435308 IRS2 C>T	13	110435308	110435308	C	T	IRS2	c.3093G>A	NM_003749.3	NP_003740.2:p.(Pro1031=)	NC_000013.10:g.110435308C>T	(Likely) benign	1 lab	ff8f51e5d5
4:15985986 PROM1 G>T	4	15985986	15985986	G	T	PROM1	c.2281-8C>A	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.15985986G>T	(Likely) benign	1 lab	ff9068bfcd
1:103496642 COL11A1 G>A	1	103496642	103496642	G	A	COL11A1	c.780+30C>T	NM_080629.3	NP_542196.2:p.?	NC_000001.10:g.103496642G>A	(Likely) benign	1 lab	ff97c4f822
1:74954853 TNNI3K G>T	1	74954853	74954853	G	T	TNNI3K	c.2122-20G>T	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74954853G>T	(Likely) benign	1 lab	ff9c113e12
15:58840988 LIPC G>A	15	58840988	58840988	G	A	LIPC	c.1051+217G>A	NM_000236.3	NP_000227.2:p.?	NC_000015.9:g.58840988G>A	(Likely) benign	1 lab	ff9ccd8ed0
5:180051054 FLT4 G>A	5	180051054	180051054	G	A	FLT4	c.1429C>T	NM_182925.5	NP_891555.2:p.(Arg477Trp)	NC_000005.9:g.180051054G>A	VUS	1 lab	ffa123c03a
3:97487062 ARL6 TAAACCTTC>T	3	97487062	97487073	TAAACCTTC	T	ARL6	c.115_122del	NM_032146.5	NP_115522.1:p.(Pro39CysfsTer28)	NC_000003.11:g.97487066_97487073del	(Likely) pathogenic	1 lab	ffa3be9bdd
3:38951670 SCN11A G>T	3	38951670	38951670	G	T	SCN11A	c.988C>A	NM_001349253.2	NP_001336182.1:p.(His330Asn)	NC_000003.11:g.38951670G>T	VUS	1 lab	ffaf6fb52a
19:13616984 CACNA1A C>T	19	13616984	13616984	C	T	CACNA1A	c.55G>A	NM_023035.3	NP_075461.2:p.(Ala19Thr)	NC_000019.9:g.13616984C>T	(Likely) benign	1 lab	ffafe6e708
11:2591993 KCNQ1 T>C	11	2591993	2591993	T	C	KCNQ1	c.604+9T>C	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2591993T>C	(Likely) benign	1 lab	ffb178bd65
20:32005550 SNTA1 ACC>A	20	32005550	32005552	ACC	A	SNTA1	c.674_675del	NM_003098.3	NP_003089.1:p.(Arg225MetfsTer5)	NC_000020.10:g.32005551_32005552del	VUS	1 lab	ffb9d7350e
16:943056 LMF1 C>T	16	943056	943056	C	T	LMF1	c.281G>A	NM_001352018.2	NP_001338947.1:p.(Arg94Gln)	NC_000016.9:g.943056C>T	VUS	1 lab	ffbab79c1a
15:78401685 CIB2 C>T	15	78401685	78401685	C	T	CIB2	c.253G>A	NM_001301224.2	NP_001288153.1:p.(Glu85Lys)	NC_000015.9:g.78401685C>T	VUS	1 lab	ffbd05ba6a
X:32364143 DMD G>A	X	32364143	32364143	G	A	DMD	c.5134C>T	NM_004010.3	NP_004001.1:p.(Gln1712Ter)	NC_000023.10:g.32364143G>A	(Likely) pathogenic	1 lab	ffc2750c5f
12:79842837 SYT1 C>T	12	79842837	79842837	C	T	SYT1	c.1202C>T	NM_001135805.2	NP_001129277.1:p.(Pro401Leu)	NC_000012.11:g.79842837C>T	VUS	1 lab	ffc3e40b9c
7:125754132 MISSING Ref too long to show for this DEL>T	7	125754132	126314159	Ref too long to show for this DEL	T	MISSING				NC_000007.13:g.125754133_126314159del	VUS	1 lab	ffc4444343
15:42681218 CAPN3 G>A	15	42681218	42681218	G	A	CAPN3	c.725G>A	NM_000070.3	NP_000061.1:p.(Arg242Lys)	NC_000015.9:g.42681218G>A	(Likely) benign	1 lab	ffc5781f5c
2:179648923 TTN G>A	2	179648923	179648923	G	A	TTN	c.2649C>T	NM_001267550.2	NP_001254479.2:p.(Phe883=)	NC_000002.11:g.179648923G>A	(Likely) benign	1 lab	ffc772c7f9
5:82836834 VCAN C>A	5	82836834	82836834	C	A	VCAN	c.8012C>A	NM_004385.5	NP_004376.2:p.(Thr2671Lys)	NC_000005.9:g.82836834C>A	(Likely) benign	1 lab	ffc7bae1b5
X:100653781 GLA G>A	X	100653781	100653781	G	A	GLA	c.793C>T	NM_000169.3	NP_000160.1:p.(Pro265Ser)	NC_000023.10:g.100653781G>A	(Likely) pathogenic	1 lab	ffc8fe25b9
17:59763229 BRIP1 A>T	17	59763229	59763229	A	T	BRIP1	c.2873T>A	NM_032043.3	NP_114432.2:p.(Leu958Gln)	NC_000017.10:g.59763229A>T	VUS	1 lab	ffce518a18
2:21231808 APOB C>G	2	21231808	21231808	C	G	APOB	c.7932G>C	NM_000384.3	NP_000375.3:p.(Arg2644Ser)	NC_000002.11:g.21231808C>G	VUS	1 lab	fff9c1d8cf
11:47370459 MYBPC3 T>TTATATATATATATATATATATATATATATATATATATATATATA	11	47370459	47370479	T	TTATATATATATATATATATATATATATATATATATATATATATA	MYBPC3	c.655-368_655-367insTATATATATATATATATATATATATATATATATATATATATATA	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47370478_47370479insATATATATATATATATATATATATATATATATATATATATATAT	(Likely) benign	1 lab	ffd99b9a34
19:55377307 KIR3DL2 T>A	19	55377307	55377307	T	A	KIR3DL2	c.1048T>A	NM_006737.4	NP_006728.2:p.(Phe350Ile)	NC_000019.9:g.55377307T>A	(Likely) benign	1 lab	ffda5c64ea
8:144297348 GPIHBP1 C>G	8	144297348	144297348	C	G	GPIHBP1	c.510C>G	NM_178172.6	NP_835466.2:p.(Leu170=)	NC_000008.10:g.144297348C>G	(Likely) benign	1 lab	ffdd6fcb42
9:130230076 LRSAM1 G>A	9	130230076	130230076	G	A	LRSAM1	c.586G>A	NM_138361.5	NP_612370.3:p.(Gly196Ser)	NC_000009.11:g.130230076G>A	VUS	1 lab	ffddbe7713
2:5833728 SOX11 G>GC	2	5833728	5833730	G	GC	SOX11	c.877dup	NM_003108.4	NP_003099.1:p.(Leu293ProfsTer105)	NC_000002.11:g.5833730dup	(Likely) pathogenic	1 lab	ffe61ef681
1:55523361 PCSK9 A>G	1	55523361	55523361	A	G	PCSK9	c.1180+174A>G	NM_174936.4	NP_777596.2:p.?	NC_000001.10:g.55523361A>G	(Likely) benign	1 lab	ffe952c076
2:179546173 TTN C>T	2	179546173	179546173	C	T	TTN	c.33177G>A	NM_001267550.2	NP_001254479.2:p.(Leu11059=)	NC_000002.11:g.179546173C>T	(Likely) benign	1 lab	ffea387e40
22:40697176 TNRC6B TGCA>T	22	40697176	40697201	TGCA	T	TNRC6B	c.3982_3984del	NM_001162501.2	NP_001155973.1:p.(Gln1328del)	NC_000022.10:g.40697199_40697201del	(Likely) benign	1 lab	ffec7b9372
19:11216285 LDLR G>A	19	11216285	11216285	G	A	LDLR	c.694+9G>A	NM_000527.5	NP_000518.1:p.?	NC_000019.9:g.11216285G>A	(Likely) benign	1 lab	ffee91523b
10:112356279 SMC3 T>C	10	112356279	112356279	T	C	SMC3	c.2087T>C	NM_005445.4	NP_005436.1:p.(Leu696Pro)	NC_000010.10:g.112356279T>C	(Likely) pathogenic	1 lab	ffefc747e7
2:44051276 ABCG5 G>A	2	44051276	44051276	G	A	ABCG5	c.1119-19C>T	NM_022436.3	NP_071881.1:p.?	NC_000002.11:g.44051276G>A	(Likely) benign	1 lab	fff77cf824
21:47148710 MISSING T>Alt too long to show for this DUP	21	47148710	47996425	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.47148712_47996425dup	VUS	1 lab	1231614015
9:34493324 DNAI1 C>T	9	34493324	34493324	C	T	DNAI1	c.826C>T	NM_001281428.2	NP_001268357.1:p.(Gln276Ter)	NC_000009.11:g.34493324C>T	(Likely) pathogenic	1 lab	fffd22c7c9
22:29885858 NEFH AGCTAAGTCCCCAGAGAAG>A	22	29885858	29885878	AGCTAAGTCCCCAGAGAAG	A	NEFH	c.2232_2249del	NM_021076.4	NP_066554.2:p.(Ser752_Lys757del)	NC_000022.10:g.29885861_29885878del	(Likely) benign	1 lab	4492d80950
17:7788343 CHD3 C>CCCG	17	7788343	7788366	C	CCCG	CHD3	c.240_242dup	NM_001005271.3	NP_001005271.2:p.(Pro82dup)	NC_000017.10:g.7788364_7788366dup	(Likely) benign	1 lab	ded124dea0
17:1047063 ABR G>Alt too long to show for this DUP	17	1047063	1129525	G	Alt too long to show for this DUP	ABR	c.838+2564_839-18362dup	NM_001322841.1	NP_001309770.1:p.?	NC_000017.10:g.1047066_1129525dup	VUS	1 lab	00cf5a3c0f
1:147230584 GJA5 C>A	1	147230584	147230584	C	A	GJA5	c.763G>T	NM_005266.7	NP_005257.2:p.(Val255Leu)	NC_000001.10:g.147230584C>A	VUS	1 lab	00e8c2e66d
19:55286867 KIR2DL1 C>G	19	55286867	55286867	C	G	KIR2DL1	c.621C>G	NM_014218.3	NP_055033.2:p.(Tyr207Ter)	NC_000019.9:g.55286867C>G	(Likely) benign	1 lab	04eddef77d
5:6325587 LINC02145 Ref too long to show for this DEL>A	5	6325587	6327639	Ref too long to show for this DEL	A	LINC02145	n.143+9624_143+11675del	NR_028351.1		NC_000005.9:g.6325588_6327639del	VUS	1 lab	05f8b51bd6
7:130822802 MKLN1 Ref too long to show for this DEL>A	7	130822802	130975616	Ref too long to show for this DEL	A	MKLN1	c.-93-4775_30-84567del	NM_001145354.1	NP_001138826.1:p.?	NC_000007.13:g.130822804_130975616del	(Likely) pathogenic	1 lab	07fab080fa
7:130128088 MEST A>Alt too long to show for this DUP	7	130128088	130142171	A	Alt too long to show for this DUP	MEST	c.-2+1853_621-314dup	NM_001253901.1	NP_001240830.1:p.?	NC_000007.13:g.130128089_130142171dup	VUS	1 lab	08a0c452bf
X:102189308 LINC00630 Ref too long to show for this DEL>A	X	102189308	102200696	Ref too long to show for this DEL	A	LINC00630	n.1910-24267_1910-12880del	NR_146589.1		NC_000023.10:g.102189309_102200696del	VUS	1 lab	098b36e29b
21:46031769 MISSING C>Alt too long to show for this DUP	21	46031769	46855996	C	Alt too long to show for this DUP	MISSING				NC_000021.8:g.46031770_46855996dup	VUS	1 lab	09bf1e834a
1:35644667 SFPQ Ref too long to show for this DEL>C	1	35644667	35656664	Ref too long to show for this DEL	C	SFPQ	n.1114-68_2083-1031del	NR_136702.1		NC_000001.10:g.35644668_35656664del	VUS	1 lab	09d35ed235
6:134789809 LINC01010 Ref too long to show for this DEL>G	6	134789809	134822774	Ref too long to show for this DEL	G	LINC01010	n.484+3617_485-1152del	NR_038216.1		NC_000006.11:g.134789813_134822774del	VUS	1 lab	0a42638bc2
3:8441393 LMCD1-AS1 Ref too long to show for this DEL>G	3	8441393	8527186	Ref too long to show for this DEL	G	LMCD1-AS1	n.574+9182_574+94973del	NR_033378.1		NC_000003.11:g.8441395_8527186del	VUS	1 lab	0bda3da4e5
19:55359527 KIR2DS4 T>C	19	55359527	55359527	T	C	KIR2DS4	c.*302T>C	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359527T>C	(Likely) benign	1 lab	0ce8825c0a
1:161293354 SDHC T>Alt too long to show for this DUP	1	161293354	161344012	T	Alt too long to show for this DUP	SDHC	c.21-48_*11682dup	NM_001035511.2	NP_001030588.1:p.?	NC_000001.10:g.161293356_161344012dup	VUS	1 lab	0cfc564042
7:114788263 LINC01392 Ref too long to show for this DEL>T	7	114788263	114853265	Ref too long to show for this DEL	T	LINC01392	n.173+17972_314+6856del	NR_126407.1		NC_000007.13:g.114788264_114853265del	VUS	1 lab	0d43a8d86b
1:58717320 DAB1 Ref too long to show for this DEL>T	1	58717320	58786386	Ref too long to show for this DEL	T	DAB1	c.-453+22640_-453+91703del	NM_001379461.1	NP_001366390.1:p.?	NC_000001.10:g.58717323_58786386del	VUS	1 lab	0e4fb79a69
10:38081404 ZNF248 T>Alt too long to show for this DUP	10	38081404	38087894	T	Alt too long to show for this DUP	ZNF248	c.331-22391_331-15902dup	NM_001267607.1	NP_001254536.1:p.?	NC_000010.10:g.38081405_38087894dup	VUS	1 lab	10633160f7
4:77164548 FAM47E Ref too long to show for this DEL>T	4	77164548	77183247	Ref too long to show for this DEL	T	FAM47E	c.82-20308_82-1610del	NM_001242936.1	NP_001229865.1:p.?	NC_000004.11:g.77164549_77183247del	VUS	1 lab	1304dc2f35
11:123247760 GRAMD1B Ref too long to show for this DEL>A	11	123247760	123285559	Ref too long to show for this DEL	A	GRAMD1B	c.26+18254_26+56052del	NM_001367418.1	NP_001354347.1:p.?	NC_000011.9:g.123247761_123285559del	VUS	1 lab	13648a617e
7:26445685 LINC02981 Ref too long to show for this DEL>G	7	26445685	26455710	Ref too long to show for this DEL	G	LINC02981	n.575+2549_630+3851del	NR_148499.1		NC_000007.13:g.26445686_26455710del	VUS	1 lab	13bef6b205
1:84545891 PRKACB Ref too long to show for this DEL>A	1	84545891	84561654	Ref too long to show for this DEL	A	PRKACB	c.46+1839_46+17600del	NM_001375576.1	NP_001362505.1:p.?	NC_000001.10:g.84545893_84561654del	VUS	1 lab	148a30fd08
1:154190943 MISSING Ref too long to show for this DEL>A	1	154190943	157202123	Ref too long to show for this DEL	A	MISSING				NC_000001.10:g.154190944_157202123del	(Likely) pathogenic	1 lab	14db0b0e12
10:62349674 ANK3 Ref too long to show for this DEL>T	10	62349674	62387088	Ref too long to show for this DEL	T	ANK3	c.58-12106_96+25269del	NM_001204403.1	NP_001191332.1:p.?	NC_000010.10:g.62349675_62387088del	VUS	1 lab	15c42d28b9
4:41405165 LIMCH1 Ref too long to show for this DEL>A	4	41405165	41412577	Ref too long to show for this DEL	A	LIMCH1	c.96+42213_96+49624del	NM_001112717.1	NP_001106188.1:p.?	NC_000004.11:g.41405166_41412577del	VUS	1 lab	176c5a5e60
3:118655729 IGSF11 Ref too long to show for this DEL>C	3	118655729	118757516	Ref too long to show for this DEL	C	IGSF11	c.49+66477_50-6608del	NM_001353320.1	NP_001340249.1:p.?	NC_000003.11:g.118655732_118757516del	VUS	1 lab	17c44d055b
12:11216815 PRH1 A>Alt too long to show for this DUP	12	11216815	11236824	A	Alt too long to show for this DUP	PRH1	c.-294-37035_-294-17029dup	NM_001291314.1	NP_001278243.1:p.?	NC_000012.11:g.11216818_11236824dup	(Likely) benign	1 lab	17d4698d3a
10:24228925 KIAA1217 Ref too long to show for this DEL>T	10	24228925	24232796	Ref too long to show for this DEL	T	KIAA1217	c.-320-67227_-320-63358del	NM_001098500.1	NP_001091970.1:p.?	NC_000010.10:g.24228927_24232796del	VUS	1 lab	1a0867fd1e
17:32189271 ASIC2 Ref too long to show for this DEL>T	17	32189271	32214712	Ref too long to show for this DEL	T	ASIC2	c.555+268285_555+293725del	NM_001094.4	NP_001085.2:p.?	NC_000017.10:g.32189272_32214712del	VUS	1 lab	1c7932eafe
15:100996095 MISSING T>Alt too long to show for this DUP	15	100996095	101607279	T	Alt too long to show for this DUP	MISSING				NC_000015.9:g.100996096_101607279dup	VUS	1 lab	349f591eee
5:134937860 MISSING A>Alt too long to show for this DUP	5	134937860	135489345	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.134937861_135489345dup	VUS	1 lab	391a704112
10:65120688 JMJD1C Ref too long to show for this DEL>G	10	65120688	65274679	Ref too long to show for this DEL	G	JMJD1C	c.-379+6819_-214+19389del	NM_001318154.1	NP_001305083.1:p.?	NC_000010.10:g.65120689_65274679del	VUS	1 lab	1f7ed2937c
6:5008900 LYRM4-AS1 Ref too long to show for this DEL>G	6	5008900	5054749	Ref too long to show for this DEL	G	LYRM4-AS1	n.144+4708_238-18084del	NR_126015.1		NC_000006.11:g.5008901_5054749del	VUS	1 lab	1ff3d0dc1b
11:45115830 PRDM11 Ref too long to show for this DEL>C	11	45115830	45133135	Ref too long to show for this DEL	C	PRDM11	c.-68+86_96+15683del	NM_001359633.1	NP_001346562.1:p.?	NC_000011.9:g.45115831_45133135del	VUS	1 lab	22b7debe37
X:77543912 MISSING G>Alt too long to show for this DUP	X	77543912	77979818	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.77543916_77979818dup	VUS	1 lab	25091343ad
16:1307060 TPSD1 A>G	16	1307060	1307060	A	G	TPSD1	c.517A>G	NM_012217.3	NP_036349.1:p.(Asn173Asp)	NC_000016.9:g.1307060A>G	(Likely) benign	1 lab	2758a7e88e
14:61763354 PRKCH-AS1 Ref too long to show for this DEL>G	14	61763354	61788946	Ref too long to show for this DEL	G	PRKCH-AS1	n.284+307_770-907del	NR_186037.1		NC_000014.8:g.61763355_61788946del	VUS	1 lab	292db67ea5
2:179575566 TTN C>T	2	179575566	179575566	C	T	TTN	c.28258G>A	NM_001267550.2	NP_001254479.2:p.(Val9420Ile)	NC_000002.11:g.179575566C>T	VUS	1 lab	2bfe26d762
1:244117824 LINC02774 Ref too long to show for this DEL>T	1	244117824	244159704	Ref too long to show for this DEL	T	LINC02774	n.126-23886_236-6981del	NR_033883.1		NC_000001.10:g.244117826_244159704del	VUS	1 lab	2e32d38828
1:67291223 MISSING G>Alt too long to show for this DUP	1	67291223	67989602	G	Alt too long to show for this DUP	MISSING				NC_000001.10:g.67291225_67989602dup	VUS	1 lab	2ee3d8a2a3
19:55341387 KIR3DL1 T>A	19	55341387	55341387	T	A	KIR3DL1	c.1110T>A	NM_013289.3	NP_037421.2:p.(Ala370=)	NC_000019.9:g.55341387T>A	(Likely) benign	1 lab	2f1a31affd
19:56736674 ZSCAN5A Ref too long to show for this DEL>T	19	56736674	56833945	Ref too long to show for this DEL	T	ZSCAN5A	c.-357-6308_-2-258del	NM_001322072.1	NP_001309001.1:p.?	NC_000019.9:g.56736675_56833945del	VUS	1 lab	30ab32ee18
16:16271409 ABCC6 G>A	16	16271409	16271409	G	A	ABCC6	c.2490C>T	NM_001171.6	NP_001162.5:p.(Ala830=)	NC_000016.9:g.16271409G>A	(Likely) benign	1 lab	314cedb570
15:63337723 TPM1 Ref too long to show for this DEL>C	15	63337723	63363022	Ref too long to show for this DEL	C	TPM1	c.240+1374_773-267del	NM_001018004.1	NP_001018004.1:p.?	NC_000015.9:g.63337725_63363022del	VUS	1 lab	316c193b14
8:6493199 MCPH1-AS1 T>Alt too long to show for this DUP	8	6493199	6562296	T	Alt too long to show for this DUP	MCPH1-AS1	n.69+3367_70-8369dup	NR_125386.1		NC_000008.10:g.6493201_6562296dup	VUS	1 lab	3377493f6b
17:29100445 SUZ12P1 Ref too long to show for this DEL>G	17	29100445	29111639	Ref too long to show for this DEL	G	SUZ12P1	n.733+3464_734-162del	NR_144394.1		NC_000017.10:g.29100447_29111639del	VUS	1 lab	39e75bcd4b
14:103798534 MISSING Ref too long to show for this DEL>C	14	103798534	107285437	Ref too long to show for this DEL	C	MISSING				NC_000014.8:g.103798535_107285437del	(Likely) pathogenic	1 lab	3a19e3cfe2
7:75091879 MISSING T>Alt too long to show for this DUP	7	75091879	76003862	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.75091880_76003862dup	(Likely) pathogenic	1 lab	3b56c18109
Y:6098694 MISSING C>Alt too long to show for this DUP	Y	6098694	6397745	C	Alt too long to show for this DUP	MISSING				NC_000024.9:g.6098695_6397745dup	(Likely) pathogenic	1 lab	3c818f1d9a
8:123448948 SMILR Ref too long to show for this DEL>T	8	123448948	123469978	Ref too long to show for this DEL	T	SMILR	n.164-40716_164-19688del	NR_131202.1		NC_000008.10:g.123448950_123469978del	VUS	1 lab	3d4ba50d54
12:86881102 MGAT4C Ref too long to show for this DEL>A	12	86881102	87210581	Ref too long to show for this DEL	A	MGAT4C	c.-327+21862_-229+7925del	NM_001351285.1	NP_001338214.1:p.?	NC_000012.11:g.86881103_87210581del	VUS	1 lab	3ddac94ec0
1:165455412 LOC400794 A>Alt too long to show for this DUP	1	165455412	165517719	A	Alt too long to show for this DUP	LOC400794	n.909-25395_1220-3569dup	NR_026744.1		NC_000001.10:g.165455413_165517719dup	VUS	1 lab	41aa8e6192
2:51279045 NRXN1-DT Ref too long to show for this DEL>G	2	51279045	51402598	Ref too long to show for this DEL	G	NRXN1-DT	n.417-449_514+123006del	NR_135237.1		NC_000002.11:g.51279046_51402598del	VUS	1 lab	4249ed30d1
4:89456006 HERC3 T>Alt too long to show for this DUP	4	89456006	89552978	T	Alt too long to show for this DUP	HERC3	c.-88+10924_227-18013dup	NM_001375482.1	NP_001362411.1:p.?	NC_000004.11:g.89456007_89552978dup	VUS	1 lab	42b54509ae
17:31718756 ASIC2 Ref too long to show for this DEL>C	17	31718756	31736813	Ref too long to show for this DEL	C	ASIC2	c.556-297728_556-279672del	NM_001094.4	NP_001085.2:p.?	NC_000017.10:g.31718757_31736813del	VUS	1 lab	42cb8104f1
4:186190292 SNX25 T>Alt too long to show for this DUP	4	186190292	186291154	T	Alt too long to show for this DUP	SNX25	c.1091+1985_*206dup	NM_001423234.1	NP_001410163.1:p.?	NC_000004.11:g.186190294_186291154dup	VUS	1 lab	42d4326404
X:594355 SHOX C>Alt too long to show for this DUP	X	594355	619146	C	Alt too long to show for this DUP	SHOX	c.278-997_634-374dup	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.594356_619146dup	VUS	1 lab	432f1dd667
6:154122862 MISSING T>Alt too long to show for this DUP	6	154122862	154805390	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.154122864_154805390dup	VUS	1 lab	4430f2aad1
16:21816567 MISSING G>Alt too long to show for this DUP	16	21816567	22627629	G	Alt too long to show for this DUP	MISSING				NC_000016.9:g.21816568_22627629dup	VUS	1 lab	4433e9c749
1:94123906 BCAR3 Ref too long to show for this DEL>A	1	94123906	94161840	Ref too long to show for this DEL	A	BCAR3	c.-12+9808_318-16008del	NM_001261408.1	NP_001248337.1:p.?	NC_000001.10:g.94123907_94161840del	VUS	1 lab	4477bd7690
2:33673851 RASGRP3 A>Alt too long to show for this DUP	2	33673851	33744688	A	Alt too long to show for this DUP	RASGRP3	c.-383+842_174-331dup	NM_001349975.1	NP_001336904.1:p.?	NC_000002.11:g.33673852_33744688dup	VUS	1 lab	4494c471a2
10:29864740 SVIL Ref too long to show for this DEL>C	10	29864740	29941119	Ref too long to show for this DEL	C	SVIL	c.-201+5780_-200-6500del	NM_001323599.1	NP_001310528.1:p.?	NC_000010.10:g.29864742_29941119del	VUS	1 lab	44d6e31f2e
3:128532428 RAB7A TCA>T	3	128532428	128532445	TCA	T	RAB7A	c.*179_*180del	NM_004637.6	NP_004628.4:p.?	NC_000003.11:g.128532444_128532445del	(Likely) benign	1 lab	4593dc4d80
8:43168906 POTEA Ref too long to show for this DEL>C	8	43168906	43194856	Ref too long to show for this DEL	C	POTEA	c.767-2127_1050-2166del	NM_001002920.1	NP_001002920.1:p.?	NC_000008.10:g.43168907_43194856del	VUS	1 lab	46996f6f1f
X:115041647 DANT2 Ref too long to show for this DEL>T	X	115041647	115052003	Ref too long to show for this DEL	T	DANT2	n.222+10716_223-6166del	NR_130730.1		NC_000023.10:g.115041648_115052003del	VUS	1 lab	489dc314ad
4:87251525 MAPK10 Ref too long to show for this DEL>A	4	87251525	87282469	Ref too long to show for this DEL	A	MAPK10	c.-497-6670_-383+24157del	NM_001318068.1	NP_001304997.1:p.?	NC_000004.11:g.87251528_87282469del	VUS	1 lab	4d3f0791a5
18:65481266 DSEL-AS1 Ref too long to show for this DEL>G	18	65481266	65557433	Ref too long to show for this DEL	G	DSEL-AS1	n.205-20388_552-6984del	NR_033921.1		NC_000018.9:g.65481268_65557433del	VUS	1 lab	4e599ef787
1:89387998 KYAT3 G>Alt too long to show for this DUP	1	89387998	89451112	G	Alt too long to show for this DUP	KYAT3	n.264+2823_1615-1078dup	NR_146183.1		NC_000001.10:g.89387999_89451112dup	VUS	1 lab	515eb30a68
X:23003924 PTCHD1-AS Ref too long to show for this DEL>A	X	23003924	23075049	Ref too long to show for this DEL	A	PTCHD1-AS	n.343+7107_343+78230del	NR_073010.1		NC_000023.10:g.23003926_23075049del	VUS	1 lab	5335b01ee7
6:148630488 SASH1 Ref too long to show for this DEL>T	6	148630488	148759934	Ref too long to show for this DEL	T	SASH1	c.21+36977_151-1386del	NM_001346505.1	NP_001333434.1:p.?	NC_000006.11:g.148630490_148759934del	VUS	1 lab	537dd4d877
3:44610222 ZKSCAN7-AS1 G>Alt too long to show for this DUP	3	44610222	44679456	G	Alt too long to show for this DUP	ZKSCAN7-AS1	n.220+23298_221-11139dup	NR_157564.1		NC_000003.11:g.44610223_44679456dup	VUS	1 lab	55dc5be2ee
15:31294288 TRPM1 G>A	15	31294288	31294288	G	A	TRPM1	c.4666C>T	NM_001252020.2	NP_001238949.1:p.(Arg1556Ter)	NC_000015.9:g.31294288G>A	VUS	1 lab	5802dfd0a3
19:19797140 MISSING G>Alt too long to show for this DUP	19	19797140	20249456	G	Alt too long to show for this DUP	MISSING				NC_000019.9:g.19797143_20249456dup	VUS	1 lab	5cc3798c00
6:138771356 NHSL1 Ref too long to show for this DEL>T	6	138771356	138892425	Ref too long to show for this DEL	T	NHSL1	c.202+422_484-3027del	NM_020464.1	NP_065197.1:p.?	NC_000006.11:g.138771357_138892425del	VUS	1 lab	5dc924754e
5:12699463 LINC01194 Ref too long to show for this DEL>A	5	12699463	12764143	Ref too long to show for this DEL	A	LINC01194	n.279-11845_381-40909del	NR_033383.1		NC_000005.9:g.12699465_12764143del	VUS	1 lab	6254557879
17:13802499 MISSING A>Alt too long to show for this DUP	17	13802499	14260386	A	Alt too long to show for this DUP	MISSING				NC_000017.10:g.13802502_14260386dup	VUS	1 lab	631e6a2dbf
17:16741769 MISSING Ref too long to show for this DEL>G	17	16741769	20462724	Ref too long to show for this DEL	G	MISSING				NC_000017.10:g.16741772_20462724del	(Likely) pathogenic	1 lab	638fe0e523
5:33132 MISSING Ref too long to show for this DEL>C	5	33132	7749752	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.33133_7749752del	(Likely) pathogenic	1 lab	655ee9444f
15:31295039 TRPM1 G>A	15	31295039	31295039	G	A	TRPM1	c.3915C>T	NM_001252020.2	NP_001238949.1:p.(Ser1305=)	NC_000015.9:g.31295039G>A	(Likely) benign	1 lab	6650e9f0d8
12:67173205 GRIP1 Ref too long to show for this DEL>T	12	67173205	67249061	Ref too long to show for this DEL	T	GRIP1	c.58+213769_59-182499del	NM_001379349.1	NP_001366278.1:p.?	NC_000012.11:g.67173206_67249061del	VUS	1 lab	6704ac00ed
8:12634095 LINC03019 Ref too long to show for this DEL>G	8	12634095	12652517	Ref too long to show for this DEL	G	LINC03019	n.100-6559_315+1667del	NR_015383.2		NC_000008.10:g.12634101_12652517del	VUS	1 lab	68039cb7fe
X:52961212 MISSING T>Alt too long to show for this DUP	X	52961212	53355758	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.52961214_53355758dup	(Likely) pathogenic	1 lab	68289894eb
Y:606950 SHOX G>Alt too long to show for this DUP	Y	606950	616519	G	Alt too long to show for this DUP	SHOX	c.633+5129_634-3001dup	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.606951_616519dup	VUS	1 lab	6a87bcc3c8
17:7996858 MISSING T>Alt too long to show for this DUP	17	7996858	8332598	T	Alt too long to show for this DUP	MISSING				NC_000017.10:g.7996859_8332598dup	VUS	1 lab	6e416f1c82
17:16703652 MISSING Ref too long to show for this DEL>A	17	16703652	20351077	Ref too long to show for this DEL	A	MISSING				NC_000017.10:g.16703654_20351077del	(Likely) pathogenic	1 lab	6ec3780da3
8:43168895 POTEA Ref too long to show for this DEL>C	8	43168895	43194856	Ref too long to show for this DEL	C	POTEA	c.767-2138_1050-2166del	NM_001002920.1	NP_001002920.1:p.?	NC_000008.10:g.43168896_43194856del	VUS	1 lab	6ec7e617c8
4:13760683 LINC01182 G>Alt too long to show for this DUP	4	13760683	13857458	G	Alt too long to show for this DUP	LINC01182	n.282-70720_349+25987dup	NR_121681.1		NC_000004.11:g.13760684_13857458dup	VUS	1 lab	6ed62cff43
1:35644941 SFPQ Ref too long to show for this DEL>T	1	35644941	35654767	Ref too long to show for this DEL	T	SFPQ	n.1708+22_2083-1305del	NR_136702.1		NC_000001.10:g.35644944_35654767del	VUS	1 lab	6f118745e2
15:74399211 MISSING Ref too long to show for this DEL>C	15	74399211	78219138	Ref too long to show for this DEL	C	MISSING				NC_000015.9:g.74399212_78219138del	(Likely) pathogenic	1 lab	6f2f00d85e
3:159955158 TRIM59-IFT80 Ref too long to show for this DEL>C	3	159955158	160022996	Ref too long to show for this DEL	C	TRIM59-IFT80	n.1785-1217_3101-9650del	NR_148401.1		NC_000003.11:g.159955161_160022996del	VUS	1 lab	6f6200bbc4
1:39659160 MACF1 Ref too long to show for this DEL>C	1	39659160	39705472	Ref too long to show for this DEL	C	MACF1	c.221-37693_282+8557del	NM_012090.4	NP_036222.3:p.?	NC_000001.10:g.39659161_39705472del	(Likely) pathogenic	1 lab	6fe3c34c36
8:79503509 MISSING Ref too long to show for this DEL>C	8	79503509	86505993	Ref too long to show for this DEL	C	MISSING				NC_000008.10:g.79503511_86505993del	(Likely) pathogenic	1 lab	71df6b84f9
9:77207687 MISSING A>Alt too long to show for this DUP	9	77207687	77695192	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.77207688_77695192dup	VUS	1 lab	72c7e3529e
15:40705380 IVD Ref too long to show for this DEL>G	15	40705380	40713850	Ref too long to show for this DEL	G	IVD	c.793+97_1148-2484del	NM_001354598.1	NP_001341527.1:p.?	NC_000015.9:g.40705383_40713850del	VUS	1 lab	741ef6816d
12:129810306 MISSING G>Alt too long to show for this DUP	12	129810306	130465924	G	Alt too long to show for this DUP	MISSING				NC_000012.11:g.129810307_130465924dup	VUS	1 lab	76023707af
2:58236561 VRK2 Ref too long to show for this DEL>A	2	58236561	58276166	Ref too long to show for this DEL	A	VRK2	c.-556-16237_136+64del	NM_001288837.1	NP_001275766.1:p.?	NC_000002.11:g.58236563_58276166del	VUS	1 lab	795cf5b9f1
4:62938245 ADGRL3-AS1 Ref too long to show for this DEL>C	4	62938245	62982646	Ref too long to show for this DEL	C	ADGRL3-AS1	n.317+1134_442+225del	NR_110595.1		NC_000004.11:g.62938246_62982646del	VUS	1 lab	79d381990a
2:218908017 RUFY4 G>Alt too long to show for this DUP	2	218908017	218937131	G	Alt too long to show for this DUP	RUFY4	n.329+7901_1674dup	NR_034176.1		NC_000002.11:g.218908018_218937131dup	VUS	1 lab	7afd3ed1ee
3:47234541 KIF9-AS1 C>Alt too long to show for this DUP	3	47234541	47257077	C	Alt too long to show for this DUP	KIF9-AS1	n.456+23656_457-16180dup	NR_033373.1		NC_000003.11:g.47234542_47257077dup	VUS	1 lab	7c000df803
19:17766107 UNC13A G>A	19	17766107	17766107	G	A	UNC13A	c.1368C>T	NM_001080421.3	NP_001073890.2:p.(Asn456=)	NC_000019.9:g.17766107G>A	(Likely) benign	1 lab	7c652c9996
X:84411160 MISSING G>Alt too long to show for this DUP	X	84411160	85198469	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.84411163_85198469dup	(Likely) pathogenic	1 lab	7f4ae592c3
15:22752397 MISSING C>Alt too long to show for this DUP	15	22752397	23213408	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.22752400_23213408dup	(Likely) pathogenic	1 lab	7f8a40fae8
5:130266075 MISSING C>Alt too long to show for this DUP	5	130266075	130690060	C	Alt too long to show for this DUP	MISSING				NC_000005.9:g.130266076_130690060dup	VUS	1 lab	8364c859b7
6:167014957 RPS6KA2 C>Alt too long to show for this DUP	6	167014957	167060016	C	Alt too long to show for this DUP	RPS6KA2	c.124-107742_124-62686dup	NM_001006932.1	NP_001006933.1:p.?	NC_000006.11:g.167014960_167060016dup	VUS	1 lab	896365487d
X:138116212 FGF13 Ref too long to show for this DEL>A	X	138116212	138129657	Ref too long to show for this DEL	A	FGF13	c.49+156564_49+170008del	NM_001139498.1	NP_001132970.1:p.?	NC_000023.10:g.138116213_138129657del	VUS	1 lab	8d3d2c7bf6
2:73786220 ALMS1 C>G	2	73786220	73786220	C	G	ALMS1	c.10338C>G	NM_015120.4	NP_055935.4:p.(Pro3446=)	NC_000002.11:g.73786220C>G	(Likely) benign	1 lab	8f0f4cd275
X:22898183 PTCHD1-AS Ref too long to show for this DEL>T	X	22898183	23120353	Ref too long to show for this DEL	T	PTCHD1-AS	n.260-38115_344-136729del	NR_073010.1		NC_000023.10:g.22898184_23120353del	VUS	1 lab	904e1d0f0c
7:130623121 LINC-PINT Ref too long to show for this DEL>A	7	130623121	130688160	Ref too long to show for this DEL	A	LINC-PINT	n.1405-1079_1722+7357del	NR_170175.1		NC_000007.13:g.130623124_130688160del	VUS	1 lab	9098366b5d
3:37428322 APRG1 Ref too long to show for this DEL>A	3	37428322	37455657	Ref too long to show for this DEL	A	APRG1	c.-775+3461_-419-2388del	NM_001387164.1	NP_001374093.1:p.?	NC_000003.11:g.37428323_37455657del	VUS	1 lab	92f7a081db
X:605438 SHOX Ref too long to show for this DEL>C	X	605438	619706	Ref too long to show for this DEL	C	SHOX	c.633+3617_*142del	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.605439_619706del	(Likely) pathogenic	1 lab	935394ff1d
3:6773966 GRM7-AS3 Ref too long to show for this DEL>A	3	6773966	6816753	Ref too long to show for this DEL	A	GRM7-AS3	n.150+15987_150+58773del	NR_110123.1		NC_000003.11:g.6773967_6816753del	VUS	1 lab	9360cbf029
8:4540820 MISSING C>Alt too long to show for this DUP	8	4540820	5240612	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.4540821_5240612dup	(Likely) pathogenic	1 lab	efa302efd6
X:104196411 IL1RAPL2 T>Alt too long to show for this DUP	X	104196411	104474322	T	Alt too long to show for this DUP	IL1RAPL2	c.83-243745_357-4180dup	NM_017416.1	NP_059112.1:p.?	NC_000023.10:g.104196412_104474322dup	VUS	1 lab	95bbe2156c
11:125114540 PKNOX2 T>Alt too long to show for this DUP	11	125114540	125213055	T	Alt too long to show for this DUP	PKNOX2	c.-108+9531_-1+11234dup	NM_001382333.1	NP_001369262.1:p.?	NC_000011.9:g.125114542_125213055dup	VUS	1 lab	95d7381e40
21:46875515 COL18A1 AC>A	21	46875515	46875517	AC	A	COL18A1	c.73del	NM_130444.3	NP_569711.2:p.(Leu25CysfsTer2)	NC_000021.8:g.46875517del	(Likely) pathogenic	1 lab	9607cc7648
7:149875837 ACTR3C Ref too long to show for this DEL>T	7	149875837	149968224	Ref too long to show for this DEL	T	ACTR3C	c.23+13621_23+106004del	NM_001351028.1	NP_001337957.1:p.?	NC_000007.13:g.149875841_149968224del	VUS	1 lab	96a88ecb7b
4:78780968 MISSING A>Alt too long to show for this DUP	4	78780968	79443850	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.78780970_79443850dup	VUS	1 lab	98aee67063
6:73972541 KHDC1 Ref too long to show for this DEL>C	6	73972541	74008729	Ref too long to show for this DEL	C	KHDC1	c.164-6966_207-20289del	NM_001251874.1	NP_001238803.1:p.?	NC_000006.11:g.73972542_74008729del	VUS	1 lab	9a93c57cd4
2:73746995 ALMS1 G>A	2	73746995	73746995	G	A	ALMS1	c.9636G>A	NM_015120.4	NP_055935.4:p.(Lys3212=)	NC_000002.11:g.73746995G>A	(Likely) benign	1 lab	9aaa112bc0
14:67480923 MISSING A>Alt too long to show for this DUP	14	67480923	68128307	A	Alt too long to show for this DUP	MISSING				NC_000014.8:g.67480924_68128307dup	VUS	1 lab	9d264d80b1
1:39659913 MACF1 G>Alt too long to show for this DUP	1	39659913	39743199	G	Alt too long to show for this DUP	MACF1	c.221-36940_544-4681dup	NM_012090.4	NP_036222.3:p.?	NC_000001.10:g.39659914_39743199dup	VUS	1 lab	9e05d1429d
15:25419666 SNHG14 Ref too long to show for this DEL>A	15	25419666	25429250	Ref too long to show for this DEL	A	SNHG14	n.10895-293_11831+28del	NR_146177.1		NC_000015.9:g.25419667_25429250del	(Likely) benign	1 lab	9f0a749180
19:1905896 SCAMP4 C>Alt too long to show for this DUP	19	1905896	1926016	C	Alt too long to show for this DUP	SCAMP4	c.-126+459_*1733dup	NM_001329539.1	NP_001316468.1:p.?	NC_000019.9:g.1905897_1926016dup	VUS	1 lab	9f88862c41
X:153783126 MISSING G>Alt too long to show for this DUP	X	153783126	154375353	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.153783127_154375353dup	VUS	1 lab	a2279c267d
3:37428321 APRG1 Ref too long to show for this DEL>A	3	37428321	37455657	Ref too long to show for this DEL	A	APRG1	c.-775+3460_-419-2388del	NM_001387164.1	NP_001374093.1:p.?	NC_000003.11:g.37428322_37455657del	VUS	1 lab	a4d649810e
15:47158627 MISSING G>Alt too long to show for this DUP	15	47158627	47999037	G	Alt too long to show for this DUP	MISSING				NC_000015.9:g.47158630_47999037dup	VUS	1 lab	a55ead5417
6:32609221 HLA-DQA1 G>C	6	32609221	32609221	G	C	HLA-DQA1	c.217G>C	NM_002122.5	NP_002113.2:p.(Glu73Gln)	NC_000006.11:g.32609221G>C	(Likely) benign	1 lab	a5763c7e9c
10:102987426 MISSING G>Alt too long to show for this DUP	10	102987426	103389882	G	Alt too long to show for this DUP	MISSING				NC_000010.10:g.102987428_103389882dup	(Likely) pathogenic	1 lab	a66363c043
7:43178197 MISSING A>Alt too long to show for this DUP	7	43178197	43784102	A	Alt too long to show for this DUP	MISSING				NC_000007.13:g.43178198_43784102dup	VUS	1 lab	a704ee48c3
X:6499267 MISSING G>Alt too long to show for this DUP	X	6499267	7123617	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.6499268_7123617dup	VUS	1 lab	a76ceafba7
8:9605527 MISSING T>Alt too long to show for this DUP	8	9605527	10265385	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.9605529_10265385dup	VUS	1 lab	a83cc0c09e
13:36775957 CCDC169-SOHLH2 A>Alt too long to show for this DUP	13	36775957	36802675	A	Alt too long to show for this DUP	CCDC169-SOHLH2	c.246-1157_494+58dup	NM_001198910.1	NP_001185839.1:p.?	NC_000013.10:g.36775958_36802675dup	VUS	1 lab	aacf43fa39
9:123808891 C5 Ref too long to show for this DEL>A	9	123808891	123813340	Ref too long to show for this DEL	A	C5	c.84-4679_84-231del	NM_001317163.1	NP_001304092.1:p.?	NC_000009.11:g.123808892_123813340del	VUS	1 lab	ab413cfb77
15:47839471 SEMA6D Ref too long to show for this DEL>T	15	47839471	47980074	Ref too long to show for this DEL	T	SEMA6D	c.-86-53590_-54-71868del	NM_001198999.1	NP_001185928.1:p.?	NC_000015.9:g.47839472_47980074del	VUS	1 lab	abbf42cfb5
14:39269592 LINC00639 Ref too long to show for this DEL>A	14	39269592	39358621	Ref too long to show for this DEL	A	LINC00639	n.159+1326_3990+34842del	NR_039982.1		NC_000014.8:g.39269595_39358621del	VUS	1 lab	aced100806
15:100179546 MISSING A>Alt too long to show for this DUP	15	100179546	100623774	A	Alt too long to show for this DUP	MISSING				NC_000015.9:g.100179547_100623774dup	(Likely) pathogenic	1 lab	ae7994f84a
16:5743789 RBFOX1 Ref too long to show for this DEL>T	16	5743789	6745163	Ref too long to show for this DEL	T	RBFOX1	c.438+94828_582+40512del	NM_001415887.1	NP_001402816.1:p.?	NC_000016.9:g.5743790_6745163del	(Likely) pathogenic	1 lab	b0fceb98d7
6:116608179 DSE Ref too long to show for this DEL>A	6	116608179	116627105	Ref too long to show for this DEL	A	DSE	c.-54+6757_-54+25682del	NM_001080976.1	NP_001074445.1:p.?	NC_000006.11:g.116608180_116627105del	VUS	1 lab	b37a016d20
12:25358031 KRAS Ref too long to show for this DEL>T	12	25358031	25370162	Ref too long to show for this DEL	T	KRAS	c.451-7316_*4697del	NM_004985.4	NP_004976.2:p.?	NC_000012.11:g.25358033_25370162del	VUS	1 lab	b4c196bd7b
17:8934630 MISSING G>Alt too long to show for this DUP	17	8934630	9489976	G	Alt too long to show for this DUP	MISSING				NC_000017.10:g.8934631_9489976dup	VUS	1 lab	b698134b70
11:28641852 MISSING Ref too long to show for this DEL>G	11	28641852	34788865	Ref too long to show for this DEL	G	MISSING				NC_000011.9:g.28641853_34788865del	(Likely) pathogenic	1 lab	b701920d72
7:76799980 MISSING C>Alt too long to show for this DUP	7	76799980	77221816	C	Alt too long to show for this DUP	MISSING				NC_000007.13:g.76799984_77221816dup	VUS	1 lab	b7d3368b86
18:3449069 TGIF1 G>Alt too long to show for this DUP	18	3449069	3455748	G	Alt too long to show for this DUP	TGIF1	c.-44-7277_-44-604dup	NM_001278686.1	NP_001265615.1:p.?	NC_000018.9:g.3449075_3455748dup	VUS	1 lab	b82cb36c33
20:92478 MISSING A>Alt too long to show for this DUP	20	92478	681678	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.92479_681678dup	(Likely) pathogenic	1 lab	b96f445981
17:31893820 ASIC2 Ref too long to show for this DEL>G	17	31893820	31923580	Ref too long to show for this DEL	G	ASIC2	c.556-484495_556-454736del	NM_001094.4	NP_001085.2:p.?	NC_000017.10:g.31893821_31923580del	VUS	1 lab	bc0748c4fe
1:219069026 MISSING T>Alt too long to show for this DUP	1	219069026	219701936	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.219069027_219701936dup	VUS	1 lab	be3d93bbd2
3:169003823 MISSING Ref too long to show for this DEL>A	3	169003823	173500597	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.169003824_173500597del	(Likely) pathogenic	1 lab	c11b470d41
7:113774029 FOXP2 A>Alt too long to show for this DUP	7	113774029	113892848	A	Alt too long to show for this DUP	FOXP2	n.302+47365_303-35226dup	NR_033766.1		NC_000007.13:g.113774031_113892848dup	VUS	1 lab	c1468ab114
1:210904397 MISSING T>Alt too long to show for this DUP	1	210904397	211362529	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.210904400_211362529dup	VUS	1 lab	c29daeb1ac
17:41105341 PTGES3L-AARSD1 T>Alt too long to show for this DUP	17	41105341	41123497	T	Alt too long to show for this DUP	PTGES3L-AARSD1	c.507+127_1530+399dup	NM_001136042.2	NP_001129514.2:p.?	NC_000017.10:g.41105342_41123497dup	VUS	1 lab	c29faf74e7
4:186611748 SORBS2 Ref too long to show for this DEL>T	4	186611748	186737300	Ref too long to show for this DEL	T	SORBS2	c.-180-40778_-24del	NM_001270771.1	NP_001257700.1:p.?	NC_000004.11:g.186611751_186737300del	VUS	1 lab	c3c6157551
7:87230966 ABCB1 Ref too long to show for this DEL>A	7	87230966	87254637	Ref too long to show for this DEL	A	ABCB1	c.-330-24241_-330-573del	NM_000927.4	NP_000918.2:p.?	NC_000007.13:g.87230969_87254637del	VUS	1 lab	c6780c3c31
11:16652577 SOX6 Ref too long to show for this DEL>T	11	16652577	16723512	Ref too long to show for this DEL	T	SOX6	c.-185+12867_-184-18771del	NM_001367872.1	NP_001354801.1:p.?	NC_000011.9:g.16652580_16723512del	VUS	1 lab	c8612ef0eb
X:22909194 PTCHD1-AS Ref too long to show for this DEL>C	X	22909194	23021667	Ref too long to show for this DEL	C	PTCHD1-AS	n.343+60488_344-147740del	NR_073010.1		NC_000023.10:g.22909195_23021667del	VUS	1 lab	c86e4c473a
8:11540075 GATA4 T>Alt too long to show for this DUP	8	11540075	11614562	T	Alt too long to show for this DUP	GATA4	c.-274+5505_498dup	NM_001308094.1	NP_001295023.1:p.?	NC_000008.10:g.11540077_11614562dup	VUS	1 lab	c9038a929c
15:40520029 PAK6 Ref too long to show for this DEL>G	15	40520029	40529208	Ref too long to show for this DEL	G	PAK6	c.-201+10163_-200-3592del	NM_001128628.1	NP_001122100.1:p.?	NC_000015.9:g.40520031_40529208del	VUS	1 lab	cb5a3ec139
13:78538485 EDNRB Ref too long to show for this DEL>T	13	78538485	78548109	Ref too long to show for this DEL	T	EDNRB	c.-52+1375_-52+10996del	NM_000115.3	NP_000106.1:p.?	NC_000013.10:g.78538488_78548109del	VUS	1 lab	cccb223b97
4:186217571 SNX25 T>Alt too long to show for this DUP	4	186217571	186291154	T	Alt too long to show for this DUP	SNX25	c.1162+8337_*206dup	NM_001423234.1	NP_001410163.1:p.?	NC_000004.11:g.186217573_186291154dup	VUS	1 lab	cde0c181ba
5:59716111 PDE4D G>Alt too long to show for this DUP	5	59716111	59784053	G	Alt too long to show for this DUP	PDE4D	c.-90+7913_-90+75854dup	NM_001364599.1	NP_001351528.1:p.?	NC_000005.9:g.59716112_59784053dup	VUS	1 lab	ce54a39e33
4:77165000 FAM47E Ref too long to show for this DEL>C	4	77165000	77183248	Ref too long to show for this DEL	C	FAM47E	c.82-19856_82-1609del	NM_001242936.1	NP_001229865.1:p.?	NC_000004.11:g.77165001_77183248del	VUS	1 lab	ce8b46e8a0
12:11231817 PRH1 G>Alt too long to show for this DUP	12	11231817	11251705	G	Alt too long to show for this DUP	PRH1	c.-294-51918_-294-32031dup	NM_001291314.1	NP_001278243.1:p.?	NC_000012.11:g.11231818_11251705dup	(Likely) benign	1 lab	d0ae559e64
9:20659491 FOCAD Ref too long to show for this DEL>T	9	20659491	20793946	Ref too long to show for this DEL	T	FOCAD	c.-78+667_1455+4339del	NM_017794.3	NP_060264.3:p.?	NC_000009.11:g.20659492_20793946del	VUS	1 lab	d31a38de30
17:21217917 UBBP4 C>Alt too long to show for this DUP	17	21217917	21511598	C	Alt too long to show for this DUP	UBBP4	n.159+445923_160-196547dup	NR_176224.1		NC_000017.10:g.21217921_21511598dup	VUS	1 lab	d3e10b0e20
6:116627104 DSE Ref too long to show for this DEL>A	6	116627104	116680491	Ref too long to show for this DEL	A	DSE	c.-54+25683_-53-39870del	NM_001080976.1	NP_001074445.1:p.?	NC_000006.11:g.116627106_116680491del	VUS	1 lab	d674fa9db0
X:22839334 PTCHD1-AS Ref too long to show for this DEL>G	X	22839334	23049094	Ref too long to show for this DEL	G	PTCHD1-AS	n.343+33061_344-77880del	NR_073010.1		NC_000023.10:g.22839335_23049094del	VUS	1 lab	de2476ed6a
6:148189948 MISSING T>Alt too long to show for this DUP	6	148189948	148667898	T	Alt too long to show for this DUP	MISSING				NC_000006.11:g.148189950_148667898dup	VUS	1 lab	e27c35411c
11:123236982 GRAMD1B Ref too long to show for this DEL>C	11	123236982	123287639	Ref too long to show for this DEL	C	GRAMD1B	c.26+7476_26+58132del	NM_001367418.1	NP_001354347.1:p.?	NC_000011.9:g.123236983_123287639del	VUS	1 lab	e39dc3d89f
6:143241801 MISSING C>Alt too long to show for this DUP	6	143241801	143750414	C	Alt too long to show for this DUP	MISSING				NC_000006.11:g.143241806_143750414dup	VUS	1 lab	e45b27f999
9:231935 MISSING T>Alt too long to show for this DUP	9	231935	632291	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.231936_632291dup	VUS	1 lab	e4855d9c8a
X:2560964 CD99P1 Ref too long to show for this DEL>A	X	2560964	2572479	Ref too long to show for this DEL	A	CD99P1	n.713-12102_713-589del	NR_033380.1		NC_000023.10:g.2560966_2572479del	VUS	1 lab	e4898e670f
X:22736000 PTCHD1-AS Ref too long to show for this DEL>A	X	22736000	22780387	Ref too long to show for this DEL	A	PTCHD1-AS	n.344-18932_453+25345del	NR_073010.1		NC_000023.10:g.22736001_22780387del	VUS	1 lab	e4e84843b6
6:5008900 LYRM4-AS1 Ref too long to show for this DEL>G	6	5008900	5048816	Ref too long to show for this DEL	G	LYRM4-AS1	n.144+4708_238-24017del	NR_126015.1		NC_000006.11:g.5008901_5048816del	VUS	1 lab	e4f7e6670b
13:101451385 NALCN-AS1 C>Alt too long to show for this DUP	13	101451385	101674043	C	Alt too long to show for this DUP	NALCN-AS1	n.141+58504_275-2988dup	NR_047687.1		NC_000013.10:g.101451386_101674043dup	VUS	1 lab	e52eff2999
1:217720408 MISSING C>Alt too long to show for this DUP	1	217720408	218128418	C	Alt too long to show for this DUP	MISSING				NC_000001.10:g.217720412_218128418dup	VUS	1 lab	e64c156acb
2:42788929 MTA3 Ref too long to show for this DEL>C	2	42788929	42819994	Ref too long to show for this DEL	C	MTA3	c.-140-8647_22+13654del	NM_001282755.1	NP_001269684.1:p.?	NC_000002.11:g.42788930_42819994del	VUS	1 lab	e7fcc7444f
1:39988943 PPIEL G>Alt too long to show for this DUP	1	39988943	40018876	G	Alt too long to show for this DUP	PPIEL	n.655-60_2412-767dup	NR_003929.2		NC_000001.10:g.39988944_40018876dup	VUS	1 lab	eb01504f78
X:22736000 PTCHD1-AS Ref too long to show for this DEL>A	X	22736000	23044602	Ref too long to show for this DEL	A	PTCHD1-AS	n.343+37553_453+25345del	NR_073010.1		NC_000023.10:g.22736001_23044602del	VUS	1 lab	ece0b9bb75
11:5412542 OR51B5 Ref too long to show for this DEL>A	11	5412542	5488883	Ref too long to show for this DEL	A	OR51B5	c.-360+37916_-359-44403del	NM_001005567.3	NP_001005567.2:p.?	NC_000011.9:g.5412543_5488883del	VUS	1 lab	eef0f316f6
X:153771467 IKBKG C>Alt too long to show for this DUP	X	153771467	153783639	C	Alt too long to show for this DUP	IKBKG	c.189+802_392-741dup	NM_001099856.2	NP_001093326.2:p.?	NC_000023.10:g.153771469_153783639dup	VUS	1 lab	f1222647bc
X:606950 SHOX G>Alt too long to show for this DUP	X	606950	616519	G	Alt too long to show for this DUP	SHOX	c.633+5129_634-3001dup	NM_006883.2	NP_006874.1:p.?	NC_000023.10:g.606951_616519dup	VUS	1 lab	f4055b4107
4:123702318 MISSING A>Alt too long to show for this DUP	4	123702318	124218578	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.123702321_124218578dup	VUS	1 lab	f498155005
12:23955711 SOX5 Ref too long to show for this DEL>T	12	23955711	24209515	Ref too long to show for this DEL	T	SOX5	c.-2+156762_442+43205del	NM_001261414.1	NP_001248343.1:p.?	NC_000012.11:g.23955712_24209515del	(Likely) pathogenic	1 lab	f665cf1f03
3:138240470 MISSING T>Alt too long to show for this DUP	3	138240470	138743718	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.138240471_138743718dup	VUS	1 lab	f99d8a46b2
2:47482103 EPCAM-DT Ref too long to show for this DEL>T	2	47482103	47563032	Ref too long to show for this DEL	T	EPCAM-DT	n.174+9008_175-33642del	NR_110207.1		NC_000002.11:g.47482104_47563032del	VUS	1 lab	fb56081bb8
4:154008 ZNF718 A>Alt too long to show for this DUP	4	154008	174809	A	Alt too long to show for this DUP	ZNF718	n.228-1625_352-38dup	NR_110527.1		NC_000004.11:g.154009_174809dup	(Likely) benign	1 lab	fcdd54fdec
5:3189559 MISSING A>Alt too long to show for this DUP	5	3189559	3774574	A	Alt too long to show for this DUP	MISSING				NC_000005.9:g.3189560_3774574dup	VUS	1 lab	fd1f42a073
X:8152875 MISSING A>Alt too long to show for this DUP	X	8152875	8536435	A	Alt too long to show for this DUP	MISSING				NC_000023.10:g.8152877_8536435dup	VUS	1 lab	fd4c8e1e13
9:139848676 MISSING G>Alt too long to show for this DUP	9	139848676	140351177	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.139848677_140351177dup	(Likely) pathogenic	1 lab	feca2eac71
9:134041379 MISSING G>Alt too long to show for this DUP	9	134041379	134489170	G	Alt too long to show for this DUP	MISSING				NC_000009.11:g.134041381_134489170dup	VUS	1 lab	fecabf1ecb
15:25070845 SNRPN Ref too long to show for this DEL>T	15	25070845	25084944	Ref too long to show for this DEL	T	SNRPN	c.-747+1876_-747+15974del	NM_001349455.1	NP_001336384.1:p.?	NC_000015.9:g.25070846_25084944del	VUS	1 lab	01c187d350
6:32713061 HLA-DQA2 C>A	6	32713061	32713061	C	A	HLA-DQA2	c.208C>A	NM_020056.5	NP_064440.1:p.(Gln70Lys)	NC_000006.11:g.32713061C>A	(Likely) benign	1 lab	0864be50da
5:123614740 MISSING Ref too long to show for this DEL>T	5	123614740	132556373	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.123614743_132556373del	(Likely) pathogenic	1 lab	de3fa36185
3:48057248 MAP4 A>Alt too long to show for this DUP	3	48057248	48075541	A	Alt too long to show for this DUP	MAP4	c.-19-35172_-19-16880dup	NM_001134364.1	NP_001127836.1:p.?	NC_000003.11:g.48057249_48075541dup	VUS	1 lab	0e14128b46
5:226347 MISSING Ref too long to show for this DEL>T	5	226347	7925029	Ref too long to show for this DEL	T	MISSING				NC_000005.9:g.226348_7925029del	(Likely) pathogenic	1 lab	131af3f74f
7:31957936 PDE1C Ref too long to show for this DEL>A	7	31957936	32120113	Ref too long to show for this DEL	A	PDE1C	c.308+89284_309-37464del	NM_001191058.1	NP_001177987.1:p.?	NC_000007.13:g.31957937_32120113del	VUS	1 lab	1f031c75e0
19:58753181 ZNF544 Ref too long to show for this DEL>T	19	58753181	58776456	Ref too long to show for this DEL	T	ZNF544	c.-59-2149_245-12093del	NM_001320782.1	NP_001307711.1:p.?	NC_000019.9:g.58753182_58776456del	VUS	1 lab	25244823b4
X:33171145 DMD A>Alt too long to show for this DUP	X	33171145	33283102	A	Alt too long to show for this DUP	DMD	c.7+74274_8-132829dup	NM_000109.3	NP_000100.2:p.?	NC_000023.10:g.33171146_33283102dup	VUS	1 lab	2682456de0
19:55341672 KIR3DL1 T>C	19	55341672	55341672	T	C	KIR3DL1	c.1277T>C	NM_013289.3	NP_037421.2:p.(Ile426Thr)	NC_000019.9:g.55341672T>C	(Likely) benign	1 lab	3dd7a67376
14:53022821 MISSING T>Alt too long to show for this DUP	14	53022821	53652683	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.53022822_53652683dup	(Likely) pathogenic	1 lab	477b5c6ccb
17:44115964 KANSL1 G>A	17	44115964	44115964	G	A	KANSL1	c.2481C>T	NM_001193466.2	NP_001180395.1:p.(Ser827=)	NC_000017.10:g.44115964G>A	(Likely) benign	1 lab	48582d5af5
18:43001138 SLC14A2 T>Alt too long to show for this DUP	18	43001138	43022703	T	Alt too long to show for this DUP	SLC14A2	c.-124-62059_-124-40495dup	NM_001242692.1	NP_001229621.1:p.?	NC_000018.9:g.43001139_43022703dup	VUS	1 lab	496cc656e7
17:44096041 MAPT C>T	17	44096041	44096041	C	T	MAPT	c.2060C>T	NM_001123066.4	NP_001116538.2:p.(Ser687Leu)	NC_000017.10:g.44096041C>T	(Likely) pathogenic	1 lab	4bcba96e8e
10:102964633 MISSING C>Alt too long to show for this DUP	10	102964633	103453767	C	Alt too long to show for this DUP	MISSING				NC_000010.10:g.102964634_103453767dup	(Likely) pathogenic	1 lab	5c92f1dd6e
16:14109738 MISSING C>Alt too long to show for this DUP	16	14109738	14777432	C	Alt too long to show for this DUP	MISSING				NC_000016.9:g.14109739_14777432dup	VUS	1 lab	610afcf47d
13:101813384 MISSING T>Alt too long to show for this DUP	13	101813384	102296765	T	Alt too long to show for this DUP	MISSING				NC_000013.10:g.101813385_102296765dup	VUS	1 lab	65859e56c5
3:11961854 MISSING T>Alt too long to show for this DUP	3	11961854	12907344	T	Alt too long to show for this DUP	MISSING				NC_000003.11:g.11961857_12907344dup	VUS	1 lab	767bb04df8
2:62129976 COMMD1 T>Alt too long to show for this DUP	2	62129976	62194331	T	Alt too long to show for this DUP	COMMD1	c.-19+14001_-18-33505dup	NM_001321781.1	NP_001308710.1:p.?	NC_000002.11:g.62129978_62194331dup	VUS	1 lab	787e524edd
20:157331 MISSING C>Alt too long to show for this DUP	20	157331	763968	C	Alt too long to show for this DUP	MISSING				NC_000020.10:g.157333_763968dup	VUS	1 lab	7946932e7c
6:31324201 HLA-B C>G	6	31324201	31324201	C	G	HLA-B	c.362G>C	NM_005514.8	NP_005505.2:p.(Ser121Thr)	NC_000006.11:g.31324201C>G	(Likely) benign	1 lab	7bf5f8e6cd
8:1540807 MISSING C>Alt too long to show for this DUP	8	1540807	2324348	C	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1540808_2324348dup	(Likely) pathogenic	1 lab	838bc35354
9:6575425 MISSING T>Alt too long to show for this DUP	9	6575425	7013992	T	Alt too long to show for this DUP	MISSING				NC_000009.11:g.6575427_7013992dup	VUS	1 lab	883eeec6ef
6:31324151 HLA-B C>G	6	31324151	31324151	C	G	HLA-B	c.412G>C	NM_005514.8	NP_005505.2:p.(Asp138His)	NC_000006.11:g.31324151C>G	(Likely) benign	1 lab	8a401a26a6
6:84779001 MISSING Ref too long to show for this DEL>T	6	84779001	90589216	Ref too long to show for this DEL	T	MISSING				NC_000006.11:g.84779002_90589216del	(Likely) pathogenic	1 lab	a041a2bd0a
16:81799292 PLCG2 C>Alt too long to show for this DUP	16	81799292	81943409	C	Alt too long to show for this DUP	PLCG2	c.-48+9722_1734-716dup	NM_001425749.1	NP_001412678.1:p.?	NC_000016.9:g.81799293_81943409dup	VUS	1 lab	aa098fb9be
7:29144696 CPVL Ref too long to show for this DEL>C	7	29144696	29192480	Ref too long to show for this DEL	C	CPVL	c.-11+28428_288+7623del	NM_001348052.1	NP_001334981.1:p.?	NC_000007.13:g.29144699_29192480del	VUS	1 lab	abbcf8f2ce
2:204998020 MISSING A>Alt too long to show for this DUP	2	204998020	205461793	A	Alt too long to show for this DUP	MISSING				NC_000002.11:g.204998021_205461793dup	VUS	1 lab	b9ea23a5cb
1:235781747 MISSING A>Alt too long to show for this DUP	1	235781747	236714153	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.235781749_236714153dup	VUS	1 lab	bba4718437
9:6575626 MISSING A>Alt too long to show for this DUP	9	6575626	7013852	A	Alt too long to show for this DUP	MISSING				NC_000009.11:g.6575628_7013852dup	VUS	1 lab	c915fa07e4
2:187956757 CALCRL-AS1 Ref too long to show for this DEL>G	2	187956757	188204285	Ref too long to show for this DEL	G	CALCRL-AS1	n.93+88666_190+147627del	NR_187178.1		NC_000002.11:g.187956758_188204285del	VUS	1 lab	dbe655a457
X:29294624 IL1RAPL1 A>Alt too long to show for this DUP	X	29294624	29511994	A	Alt too long to show for this DUP	IL1RAPL1	c.83-6430_703+94569dup	NM_014271.3	NP_055086.1:p.?	NC_000023.10:g.29294625_29511994dup	VUS	1 lab	e4f614f43f
1:149930839 MISSING T>Alt too long to show for this DUP	1	149930839	150463773	T	Alt too long to show for this DUP	MISSING				NC_000001.10:g.149930841_150463773dup	VUS	1 lab	f3998840b4
6:73997887 KHDC1 Ref too long to show for this DEL>G	6	73997887	74004356	Ref too long to show for this DEL	G	KHDC1	c.164-2592_206+3833del	NM_001251874.1	NP_001238803.1:p.?	NC_000006.11:g.73997889_74004356del	VUS	1 lab	f96867d6c1
2:216810379 MISSING G>Alt too long to show for this DUP	2	216810379	217184876	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.216810380_217184876dup	VUS	1 lab	17ea6075e4
X:152927505 MISSING C>Alt too long to show for this DUP	X	152927505	153575626	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.152927510_153575626dup	(Likely) pathogenic	1 lab	2ba9a24663
8:50659323 MISSING A>Alt too long to show for this DUP	8	50659323	51613200	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.50659324_51613200dup	VUS	1 lab	7211c309a1
14:69679956 MISSING C>Alt too long to show for this DUP	14	69679956	70196983	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.69679957_70196983dup	VUS	1 lab	7fbe05e063
21:47164652 MISSING T>Alt too long to show for this DUP	21	47164652	47987160	T	Alt too long to show for this DUP	MISSING				NC_000021.8:g.47164654_47987160dup	(Likely) pathogenic	1 lab	901eef26f3
1:247027707 MISSING A>Alt too long to show for this DUP	1	247027707	247593991	A	Alt too long to show for this DUP	MISSING				NC_000001.10:g.247027708_247593991dup	VUS	1 lab	ab61157d8b
11:19973766 MISSING T>Alt too long to show for this DUP	11	19973766	20693911	T	Alt too long to show for this DUP	MISSING				NC_000011.9:g.19973767_20693911dup	VUS	1 lab	c231228c55
X:109157794 MISSING G>Alt too long to show for this DUP	X	109157794	109710443	G	Alt too long to show for this DUP	MISSING				NC_000023.10:g.109157796_109710443dup	VUS	1 lab	de5fccabff
1:3044893 PRDM16 T>Alt too long to show for this DUP	1	3044893	3284340	T	Alt too long to show for this DUP	PRDM16	c.38-57795_439-17376dup	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3044894_3284340dup	VUS	1 lab	df9af0a507
X:102487901 MISSING T>Alt too long to show for this DUP	X	102487901	103223099	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.102487902_103223099dup	(Likely) pathogenic	1 lab	ec986632b6
X:63527450 MISSING C>Alt too long to show for this DUP	X	63527450	64244535	C	Alt too long to show for this DUP	MISSING				NC_000023.10:g.63527451_64244535dup	VUS	1 lab	f620666c22
3:31906624 MISSING A>Alt too long to show for this DUP	3	31906624	32365048	A	Alt too long to show for this DUP	MISSING				NC_000003.11:g.31906625_32365048dup	VUS	1 lab	0286e751e9
X:37541820 MISSING T>Alt too long to show for this DUP	X	37541820	38383613	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37541822_38383613dup	VUS	1 lab	05b68d122d
3:50532807 MISSING Ref too long to show for this DEL>A	3	50532807	54522819	Ref too long to show for this DEL	A	MISSING				NC_000003.11:g.50532810_54522819del	(Likely) pathogenic	1 lab	1adc343adf
18:29814418 MISSING T>Alt too long to show for this DUP	18	29814418	30370170	T	Alt too long to show for this DUP	MISSING				NC_000018.9:g.29814425_30370170dup	VUS	1 lab	214f6cc697
18:2779186 MISSING Ref too long to show for this DEL>T	18	2779186	11811696	Ref too long to show for this DEL	T	MISSING				NC_000018.9:g.2779188_11811696del	(Likely) pathogenic	1 lab	33ec80eeb5
5:59446857 PDE4D C>Alt too long to show for this DUP	5	59446857	59533748	C	Alt too long to show for this DUP	PDE4D	c.-89-52233_42+34526dup	NM_001165899.1	NP_001159371.1:p.?	NC_000005.9:g.59446859_59533748dup	VUS	1 lab	58843f40e9
15:85097253 MISSING C>Alt too long to show for this DUP	15	85097253	85724985	C	Alt too long to show for this DUP	MISSING				NC_000015.9:g.85097256_85724985dup	VUS	1 lab	5898e432b6
1:57887872 DAB1 T>Alt too long to show for this DUP	1	57887872	57992266	T	Alt too long to show for this DUP	DAB1	c.-137+122999_-136-131035dup	NM_001353980.1	NP_001340909.1:p.?	NC_000001.10:g.57887874_57992266dup	VUS	1 lab	639eb53422
14:20427182 MISSING C>Alt too long to show for this DUP	14	20427182	21081713	C	Alt too long to show for this DUP	MISSING				NC_000014.8:g.20427184_21081713dup	VUS	1 lab	6bc909b272
8:42938286 MISSING G>Alt too long to show for this DUP	8	42938286	43541986	G	Alt too long to show for this DUP	MISSING				NC_000008.10:g.42938288_43541986dup	VUS	1 lab	897a9a3809
4:183247610 MISSING Ref too long to show for this DEL>C	4	183247610	190804547	Ref too long to show for this DEL	C	MISSING				NC_000004.11:g.183247612_190804547del	(Likely) pathogenic	1 lab	906fcffb45
2:136518269 MISSING G>Alt too long to show for this DUP	2	136518269	136901749	G	Alt too long to show for this DUP	MISSING				NC_000002.11:g.136518270_136901749dup	VUS	1 lab	945ca1e187
13:98830500 MISSING A>Alt too long to show for this DUP	13	98830500	99489044	A	Alt too long to show for this DUP	MISSING				NC_000013.10:g.98830501_99489044dup	VUS	1 lab	a768c58b8a
X:37553514 MISSING T>Alt too long to show for this DUP	X	37553514	38374201	T	Alt too long to show for this DUP	MISSING				NC_000023.10:g.37553515_38374201dup	VUS	1 lab	a8e3cd8720
17:17223675 MISSING Ref too long to show for this DEL>T	17	17223675	20465849	Ref too long to show for this DEL	T	MISSING				NC_000017.10:g.17223676_20465849del	(Likely) pathogenic	1 lab	bb628f4550
15:63338085 TPM1 Ref too long to show for this DEL>A	15	63338085	63364050	Ref too long to show for this DEL	A	TPM1	c.240+1736_*679del	NM_001018004.1	NP_001018004.1:p.?	NC_000015.9:g.63338087_63364050del	VUS	1 lab	cd729c4641
4:23971697 PPARGC1A A>Alt too long to show for this DUP	4	23971697	24003482	A	Alt too long to show for this DUP	PPARGC1A	c.69+89609_70-85144dup	NM_001330751.1	NP_001317680.1:p.?	NC_000004.11:g.23971698_24003482dup	VUS	1 lab	d29cc94262
2:232427925 MISSING C>Alt too long to show for this DUP	2	232427925	232981338	C	Alt too long to show for this DUP	MISSING				NC_000002.11:g.232427926_232981338dup	(Likely) pathogenic	1 lab	ec50e8fd5c
7:122360348 MISSING T>Alt too long to show for this DUP	7	122360348	123041654	T	Alt too long to show for this DUP	MISSING				NC_000007.13:g.122360350_123041654dup	VUS	1 lab	edbc1935b5
10:116329987 ABLIM1 G>Alt too long to show for this DUP	10	116329987	116458867	G	Alt too long to show for this DUP	ABLIM1	c.13+68953_442+1068dup	NM_001322884.1	NP_001309813.1:p.?	NC_000010.10:g.116329988_116458867dup	VUS	1 lab	2ff5caa023
7:29231787 CHN2 G>Alt too long to show for this DUP	7	29231787	29520122	G	Alt too long to show for this DUP	CHN2	c.-390+45213_216+150dup	NM_001398427.1	NP_001385356.1:p.?	NC_000007.13:g.29231789_29520122dup	VUS	1 lab	318f82261f
14:101335312 MISSING Ref too long to show for this DEL>T	14	101335312	106329076	Ref too long to show for this DEL	T	MISSING				NC_000014.8:g.101335315_106329076del	(Likely) pathogenic	1 lab	49026557a4
2:197343296 MISSING Ref too long to show for this DEL>T	2	197343296	202606623	Ref too long to show for this DEL	T	MISSING				NC_000002.11:g.197343297_202606623del	(Likely) pathogenic	1 lab	54a1836fc7
8:1448691 MISSING A>Alt too long to show for this DUP	8	1448691	1791531	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.1448692_1791531dup	VUS	1 lab	5f292ca343
8:81959987 MISSING A>Alt too long to show for this DUP	8	81959987	82582143	A	Alt too long to show for this DUP	MISSING				NC_000008.10:g.81959991_82582143dup	VUS	1 lab	648fd2aa17
5:113575 MISSING Ref too long to show for this DEL>C	5	113575	7187279	Ref too long to show for this DEL	C	MISSING				NC_000005.9:g.113576_7187279del	(Likely) pathogenic	1 lab	792058d9b2
14:21394641 MISSING T>Alt too long to show for this DUP	14	21394641	22192401	T	Alt too long to show for this DUP	MISSING				NC_000014.8:g.21394643_22192401dup	(Likely) pathogenic	1 lab	7a86391882
1:239333662 MISSING Ref too long to show for this DEL>G	1	239333662	248753184	Ref too long to show for this DEL	G	MISSING				NC_000001.10:g.239333663_248753184del	(Likely) pathogenic	1 lab	87c019d44f
6:31324524 HLA-B GCC>G	6	31324524	31324526	GCC	G	HLA-B	c.282_283del	NM_005514.8	NP_005505.2:p.(Gln94HisfsTer4)	NC_000006.11:g.31324525_31324526del	(Likely) benign	1 lab	a8da002c84
11:7406650 MISSING A>Alt too long to show for this DUP	11	7406650	8350010	A	Alt too long to show for this DUP	MISSING				NC_000011.9:g.7406652_8350010dup	VUS	1 lab	ac5b66d315
16:15481919 MISSING A>Alt too long to show for this DUP	16	15481919	16388244	A	Alt too long to show for this DUP	MISSING				NC_000016.9:g.15481920_16388244dup	(Likely) pathogenic	1 lab	c68c884e13
6:32714108 HLA-DQA2 C>G	6	32714108	32714108	C	G	HLA-DQA2	c.705C>G	NM_020056.5	NP_064440.1:p.(Gly235=)	NC_000006.11:g.32714108C>G	(Likely) benign	1 lab	cf3b694091
8:9600915 MISSING T>Alt too long to show for this DUP	8	9600915	10288461	T	Alt too long to show for this DUP	MISSING				NC_000008.10:g.9600916_10288461dup	VUS	1 lab	d8b8056c49
2:22791485 MISSING Ref too long to show for this DEL>C	2	22791485	27942769	Ref too long to show for this DEL	C	MISSING				NC_000002.11:g.22791491_27942769del	(Likely) pathogenic	1 lab	dcc764635b
4:42126512 MISSING A>Alt too long to show for this DUP	4	42126512	42704579	A	Alt too long to show for this DUP	MISSING				NC_000004.11:g.42126513_42704579dup	VUS	1 lab	e22656f3d2
20:163635 MISSING A>Alt too long to show for this DUP	20	163635	758337	A	Alt too long to show for this DUP	MISSING				NC_000020.10:g.163637_758337dup	(Likely) pathogenic	1 lab	ec705dfc5e
19:55359523 KIR2DS4 T>C	19	55359523	55359523	T	C	KIR2DS4	c.*298T>C	NM_001281971.2	NP_001268900.1:p.?	NC_000019.9:g.55359523T>C	(Likely) benign	1 lab	fe07d31d0e
1:94564484 ABCA4 G>A	1	94564484	94564484	G	A	ABCA4	c.634C>T	NM_000350.3	NP_000341.2:p.(Arg212Cys)	NC_000001.10:g.94564484G>A	(Likely) pathogenic	1 lab	6805eacde7
15:89416198 ACAN C>T	15	89416198	89416198	C	T	ACAN	c.7389C>T	NM_001369268.1	NP_001356197.1:p.(Gly2463=)	NC_000015.9:g.89416198C>T	VUS	1 lab	4c3be87b18
8:62489354 ASPH G>A	8	62489354	62489354	G	A	ASPH	c.1126C>T	NM_004318.4	NP_004309.2:p.(Arg376Ter)	NC_000008.10:g.62489354G>A	(Likely) pathogenic	1 lab	e22450f5eb
10:121429669 BAG3 C>T	10	121429669	121429669	C	T	BAG3	c.487C>T	NM_004281.3	NP_004272.2:p.(Pro163Ser)	NC_000010.10:g.121429669C>T	VUS	1 lab	0d2e0ab970
9:95480092 BICD2 T>C	9	95480092	95480092	T	C	BICD2	c.2245A>G	NM_001003800.2	NP_001003800.1:p.(Met749Val)	NC_000009.11:g.95480092T>C	(Likely) benign	1 lab	d12667a3ec
2:182468680 CERKL A>C	2	182468680	182468680	A	C	CERKL	c.365T>G	NM_001030311.3	NP_001025482.1:p.(Leu122Arg)	NC_000002.11:g.182468680A>C	VUS	1 lab	953a1bc88b
11:118963869 HMBS G>A	11	118963869	118963869	G	A	HMBS	c.962G>A	NM_000190.4	NP_000181.2:p.(Arg321His)	NC_000011.9:g.118963869G>A	(Likely) benign	1 lab	8282c92e1d
14:23885479 MYH7 G>C	14	23885479	23885479	G	C	MYH7	c.4687C>G	NM_000257.4	NP_000248.2:p.(Leu1563Val)	NC_000014.8:g.23885479G>C	VUS	1 lab	519bfcd317
3:38936440 SCN11A T>C	3	38936440	38936440	T	C	SCN11A	c.2419A>G	NM_001349253.2	NP_001336182.1:p.(Ile807Val)	NC_000003.11:g.38936440T>C	VUS	1 lab	5c0eaad009
17:75488782 SEPTIN9 T>C	17	75488782	75488782	T	C	SEPTIN9	c.1406T>C	NM_006640.5	NP_006631.2:p.(Val469Ala)	NC_000017.10:g.75488782T>C	VUS	1 lab	5e7e68b391
16:56904611 SLC12A3 T>C	16	56904611	56904611	T	C	SLC12A3	c.815T>C	NM_000339.3	NP_000330.3:p.(Leu272Pro)	NC_000016.9:g.56904611T>C	(Likely) pathogenic	1 lab	75d4663066
17:72764743 SLC9A3R1 G>A	17	72764743	72764743	G	A	SLC9A3R1				NC_000017.10:g.72764743G>A	VUS	1 lab	93bda5411f
7:6037071 PMS2 AAAAT>A	7	6037071	6037075	AAAAT	A	PMS2	c.706-21_706-18del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6037072_6037075del	VUS	1 lab	4bee1f4dc6
2:234680952 UGT1A1 G>A	2	234680952	234680952	G	A	UGT1A1	c.1349G>A	NM_000463.3	NP_000454.1:p.(Arg450His)	NC_000002.11:g.234680952G>A	VUS	1 lab	832c155b90
1:237965133 RYR2 A>ATTT	1	237965133	237965145	A	ATTT	RYR2	c.14091-13_14091-11dup	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237965143_237965145dup	(Likely) benign	1 lab	ac4e7872b2
16:89986130 MC1R T>C	16	89986130	89986130	T	C	MC1R	c.464T>C	NM_002386.4	NP_002377.4:p.(Ile155Thr)	NC_000016.9:g.89986130T>C	(Likely) benign	1 lab	e825182fe5
3:37067120 MLH1 T>TTTTTTTTTA	3	37067120	37067121	T	TTTTTTTTTA	MLH1	c.1039-8_1039-7insTTTTTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTTTTTA	(Likely) benign	1 lab	f90c9b6d50
16:3708137 TRAP1 C>T	16	3708137	3708137	C	T	TRAP1	c.2108G>A	NM_016292.3	NP_057376.2:p.(Arg703Gln)	NC_000016.9:g.3708137C>T	(Likely) benign	1 lab	cbcb9808ba
9:34650446 GALT A>C	9	34650446	34650446	A	C	GALT	c.1140A>C	NM_000155.3	NP_000146.2:p.(Ter380CysextTer49)	NC_000009.11:g.34650446A>C	(Likely) pathogenic	1 lab	78e56e0e06
14:50585574 SOS2 C>CAA	14	50585574	50585584	C	CAA	SOS2	c.3490-5_3490-4dup	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50585583_50585584dup	(Likely) benign	1 lab	45480c899c
19:13010520 GCDH A>G	19	13010520	13010520	A	G	GCDH	c.1250A>G	NM_013976.5	NP_039663.1:p.(Gln417Arg)	NC_000019.9:g.13010520A>G	(Likely) benign	1 lab	5a3c1cd8e2
X:31200832 DMD A>ATTT	X	31200832	31200842	A	ATTT	DMD	c.9605+20_9605+22dup	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31200840_31200842dup	(Likely) benign	1 lab	8311fafdab
14:23858267 MYH6 GGGGA>G	14	23858267	23858274	GGGGA	G	MYH6	c.3979-7_3979-4del	NM_002471.4	NP_002462.2:p.?	NC_000014.8:g.23858271_23858274del	(Likely) benign	1 lab	9e5c4b7724
14:88407716 GALC T>TAA	14	88407716	88407729	T	TAA	GALC	c.1834+21_1834+22dup	NM_000153.4	NP_000144.2:p.?	NC_000014.8:g.88407728_88407729dup	(Likely) benign	1 lab	9f245250c3
2:179460214 TTN A>ATT	2	179460214	179460227	A	ATT	TTN	c.57847+18_57847+19dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179460226_179460227dup	(Likely) benign	1 lab	c1c7c47032
6:66005740 EYS G>GAA	6	66005740	66005750	G	GAA	EYS	c.2023+14_2023+15dup	NM_001292009.2	NP_001278938.1:p.?	NC_000006.11:g.66005749_66005750dup	(Likely) benign	1 lab	eb9dfbc6a1
X:107977750 IRS4 A>C	X	107977750	107977750	A	C	IRS4				NC_000023.10:g.107977750A>C	VUS	1 lab	6671e42b4c
2:207014657 NDUFS1 TAAA>T	2	207014657	207014682	TAAA	T	NDUFS1	c.154-11_154-9del	NM_005006.7	NP_004997.4:p.?	NC_000002.11:g.207014680_207014682del	(Likely) benign	1 lab	0122842db8
3:189690816 P3H2 G>GAA	3	189690816	189690827	G	GAA	P3H2	c.1549-5_1549-4dup	NM_018192.4	NP_060662.2:p.?	NC_000003.11:g.189690826_189690827dup	(Likely) benign	1 lab	0e9541c4e4
14:64460536 SYNE2 A>ATT	14	64460536	64460550	A	ATT	SYNE2	c.2647-4_2647-3dup	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64460549_64460550dup	(Likely) benign	1 lab	29f08dc1b8
8:117868531 RAD21 T>TAA	8	117868531	117868554	T	TAA	RAD21	c.815-6_815-5dup	NM_006265.3	NP_006256.1:p.?	NC_000008.10:g.117868553_117868554dup	(Likely) benign	1 lab	3e3c509051
6:118880111 CEP85L C>T	6	118880111	118880111	C	T	CEP85L	c.1020+6581G>A	NM_001042475.3	NP_001035940.1:p.?	NC_000006.11:g.118880111C>T	(Likely) benign	1 lab	f002e4cba5
1:169498846 F5 C>T	1	169498846	169498846	C	T	F5	c.5419G>A	NM_000130.4	NP_000121.2:p.(Ala1807Thr)	NC_000001.10:g.169498846C>T	(Likely) pathogenic	1 lab	6591d42d1d
15:73615749 HCN4 T>G	15	73615749	73615749	T	G	HCN4	c.2685A>C	NM_005477.2	NP_005468.1:p.(Pro895=)	NC_000015.9:g.73615749T>G	(Likely) benign	1 lab	6594b4a78e
3:123167042 ADCY5 C>T	3	123167042	123167042	C	T	ADCY5	c.351G>A	NM_183357.3	NP_899200.1:p.(Arg117=)	NC_000003.11:g.123167042C>T	(Likely) benign	1 lab	00054771a8
12:6128308 VWF G>A	12	6128308	6128308	G	A	VWF	c.4276C>T	NM_000552.3	NP_000543.2:p.(Arg1426Cys)	NC_000012.11:g.6128308G>A	(Likely) pathogenic	1 lab	659ceaad05
1:1720572 GNB1 GAGA>G	1	1720572	1720577	GAGA	G	GNB1	c.833_835del	NM_002074.4	NP_002065.1:p.(Phe278del)	NC_000001.10:g.1720575_1720577del	VUS	1 lab	659ceaf5da
19:55669055 TNNI3 G>T	19	55669055	55669055	G	T	TNNI3	c.-98C>A	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55669055G>T	(Likely) benign	1 lab	6a2e6fa997
14:60976647 SIX6 AAACCG>A	14	60976647	60976652	AAACCG	A	SIX6	c.532_536del	NM_007374.2	NP_031400.2:p.(Asn178ProfsTer142)	NC_000014.8:g.60976648_60976652del	(Likely) pathogenic	1 lab	659f4fa003
16:23614828 PALB2 CA>C	16	23614828	23614831	CA	C	PALB2	c.3512del	NM_024675.3	NP_078951.2:p.(Leu1171CysfsTer20)	NC_000016.9:g.23614831del	(Likely) pathogenic	1 lab	65a3575bb1
18:44137400 LOXHD1 C>T	18	44137400	44137400	C	T	LOXHD1	c.3269G>A	NM_144612.6	NP_653213.6:p.(Arg1090Gln)	NC_000018.9:g.44137400C>T	(Likely) benign	1 lab	65a48ef9df
12:25368514 KRAS T>C	12	25368514	25368514	T	C	KRAS	c.451-20A>G	NM_033360.2	NP_203524.1:p.?	NC_000012.11:g.25368514T>C	(Likely) benign	1 lab	65a652e385
13:51509055 RNASEH2B A>G	13	51509055	51509055	A	G	RNASEH2B	c.356A>G	NM_024570.3	NP_078846.2:p.(Asp119Gly)	NC_000013.10:g.51509055A>G	(Likely) pathogenic	1 lab	65ab5af182
19:54625238 PRPF31 G>A	19	54625238	54625238	G	A	PRPF31	c.239-1G>A	NM_015629.3	NP_056444.3:p.?	NC_000019.9:g.54625238G>A	(Likely) pathogenic	1 lab	65aea0af89
2:37450393 CEBPZ A>T	2	37450393	37450393	A	T	CEBPZ	c.1801T>A	NM_005760.2	NP_005751.2:p.(Phe601Ile)	NC_000002.11:g.37450393A>T	(Likely) benign	1 lab	65b0809c51
2:167300167 SCN7A G>A	2	167300167	167300167	G	A	SCN7A	c.1646C>T	NM_002976.4	NP_002967.2:p.(Thr549Ile)	NC_000002.11:g.167300167G>A	VUS	1 lab	65b105f2e4
7:98589850 TRRAP G>A	7	98589850	98589850	G	A	TRRAP	c.9772G>A	NM_003496.4	NP_003487.1:p.(Asp3258Asn)	NC_000007.13:g.98589850G>A	VUS	1 lab	000abd4ba3
6:121768323 GJA1 G>C	6	121768323	121768323	G	C	GJA1	c.330G>C	NM_000165.3	NP_000156.1:p.(Glu110Asp)	NC_000006.11:g.121768323G>C	(Likely) pathogenic	1 lab	65b59f5e80
14:75567826 NEK9 T>C	14	75567826	75567826	T	C	NEK9				NC_000014.8:g.75567826T>C	(Likely) pathogenic	1 lab	65b5f63612
15:48734008 FBN1 C>A	15	48734008	48734008	C	A	FBN1	c.6073G>T	NM_000138.5	NP_000129.3:p.(Ala2025Ser)	NC_000015.9:g.48734008C>A	(Likely) benign	1 lab	000fb51453
16:9862847 GRIN2A C>G	16	9862847	9862847	C	G	GRIN2A				NC_000016.9:g.9862847C>G	(Likely) pathogenic	1 lab	6ab45d288e
9:35685459 TPM2 G>A	9	35685459	35685459	G	A	TPM2	c.464C>T	NM_003289.3	NP_003280.2:p.(Ala155Val)	NC_000009.11:g.35685459G>A	(Likely) pathogenic	1 lab	65b82feaf5
7:140453150 BRAF A>C	7	140453150	140453150	A	C	BRAF	c.1785T>G	NM_004333.6	NP_004324.2:p.(Phe595Leu)	NC_000007.13:g.140453150A>C	(Likely) pathogenic	1 lab	65bafa3be7
4:5699339 EVC2 G>T	4	5699339	5699339	G	T	EVC2	c.264C>A	NM_147127.4	NP_667338.3:p.(Cys88Ter)	NC_000004.11:g.5699339G>T	(Likely) pathogenic	1 lab	65bc7b45bc
1:19203997 ALDH4A1 C>G	1	19203997	19203997	C	G	ALDH4A1	c.1050G>C	NM_170726.2	NP_733844.1:p.(Ala350=)	NC_000001.10:g.19203997C>G	(Likely) benign	1 lab	65bf78cdfe
2:166911170 SCN1A C>G	2	166911170	166911170	C	G	SCN1A	c.580G>C	NM_001165963.1	NP_001159435.1:p.(Asp194His)	NC_000002.11:g.166911170C>G	(Likely) pathogenic	1 lab	65c0213549
19:3114929 GNA11 C>T	19	3114929	3114929	C	T	GNA11	c.477-13C>T	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3114929C>T	(Likely) benign	1 lab	65c383433b
22:25620952 CRYBB2 T>C	22	25620952	25620952	T	C	CRYBB2	c.122T>C	NM_000496.3	NP_000487.1:p.(Leu41Pro)	NC_000022.10:g.25620952T>C	(Likely) pathogenic	1 lab	65c3ef2490
7:117375140 CTTNBP2 C>T	7	117375140	117375140	C	T	CTTNBP2	c.3703G>A	NM_033427.3	NP_219499.1:p.(Glu1235Lys)	NC_000007.13:g.117375140C>T	VUS	1 lab	0012b5ea4d
14:99968648 CCNK C>T	14	99968648	99968648	C	T	CCNK	c.680C>T	NM_001099402.1	NP_001092872.1:p.(Ser227Phe)	NC_000014.8:g.99968648C>T	VUS	1 lab	65c604730f
X:153132871 L1CAM T>A	X	153132871	153132871	T	A	L1CAM	c.2077A>T	NM_000425.5	NP_000416.1:p.(Asn693Tyr)	NC_000023.10:g.153132871T>A	(Likely) pathogenic	1 lab	0015f0362f
6:6318795 F13A1 C>A	6	6318795	6318795	C	A	F13A1	c.103G>T	NM_000129.3	NP_000120.2:p.(Val35Leu)	NC_000006.11:g.6318795C>A	(Likely) benign	1 lab	65c93fb6a0
8:27321046 CHRNA2 A>G	8	27321046	27321046	A	G	CHRNA2	c.914T>C	NM_000742.3	NP_000733.2:p.(Leu305Pro)	NC_000008.10:g.27321046A>G	(Likely) pathogenic	1 lab	65c9d0426b
7:50459538 IKZF1 G>C	7	50459538	50459538	G	C	IKZF1	c.827G>C	NM_006060.6	NP_006051.1:p.(Ser276Thr)	NC_000007.13:g.50459538G>C	VUS	1 lab	65cd5d84d1
4:6303637 WFS1 G>C	4	6303637	6303637	G	C	WFS1	c.2115G>C	NM_006005.3	NP_005996.2:p.(Lys705Asn)	NC_000004.11:g.6303637G>C	(Likely) pathogenic	1 lab	65d0abe53d
17:8065020 MISSING A>G	17	8065020	8065020	A	G	MISSING				NC_000017.10:g.8065020A>G	(Likely) pathogenic	1 lab	676454a194
X:66942686 AR A>C	X	66942686	66942686	A	C	AR	c.2467A>C	NM_000044.6	NP_000035.2:p.(Lys823Gln)	NC_000023.10:g.66942686A>C	VUS	1 lab	65d0ef210d
8:126095503 WASHC5 G>A	8	126095503	126095503	G	A	WASHC5	c.187-3C>T	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126095503G>A	(Likely) benign	1 lab	65d2bc3b6e
16:5125553 ALG1 G>A	16	5125553	5125553	G	A	ALG1	c.539+16G>A	NM_019109.4	NP_061982.3:p.?	NC_000016.9:g.5125553G>A	(Likely) benign	1 lab	09b2a894b3
8:38275827 FGFR1 G>A	8	38275827	38275827	G	A	FGFR1	c.1349C>T	NM_023110.2	NP_075598.2:p.(Ser450Phe)	NC_000008.10:g.38275827G>A	(Likely) benign	1 lab	65d887c7f6
10:70451273 TET1 G>A	10	70451273	70451273	G	A	TET1	c.6113G>A	NM_030625.2	NP_085128.2:p.(Arg2038His)	NC_000010.10:g.70451273G>A	VUS	1 lab	65da0a882d
X:123697624 TENM1 T>TA	X	123697624	123697628	T	TA	TENM1	c.2264-3dup	NM_001163278.1	NP_001156750.1:p.?	NC_000023.10:g.123697628dup	(Likely) benign	1 lab	001b5d6d76
1:215822045 USH2A T>A	1	215822045	215822045	T	A	USH2A	c.14407A>T	NM_206933.2	NP_996816.2:p.(Ile4803Phe)	NC_000001.10:g.215822045T>A	VUS	1 lab	65dbcd7bea
17:7919609 GUCY2D G>C	17	7919609	7919609	G	C	GUCY2D	c.3224+1G>C	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7919609G>C	(Likely) pathogenic	1 lab	65e350454c
17:1780565 RPA1 G>A	17	1780565	1780565	G	A	RPA1	c.647G>A	NM_002945.5	NP_002936.1:p.(Arg216Gln)	NC_000017.10:g.1780565G>A	VUS	1 lab	001b7f818e
10:88683847 BMPR1A C>T	10	88683847	88683847	C	T	BMPR1A	c.*371C>T	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88683847C>T	(Likely) benign	1 lab	65e449ae2b
16:21689879 OTOA T>A	16	21689879	21689879	T	A	OTOA	c.44T>A	NM_144672.3	NP_653273.3:p.(Phe15Tyr)	NC_000016.9:g.21689879T>A	(Likely) benign	1 lab	65e98ed84b
8:61741219 CHD7 C>G	8	61741219	61741219	C	G	CHD7				NC_000008.10:g.61741219C>G	(Likely) pathogenic	1 lab	6c20d4aea4
7:138455977 ATP6V0A4 G>A	7	138455977	138455977	G	A	ATP6V0A4	c.16C>T	NM_020632.2	NP_065683.2:p.(Arg6Ter)	NC_000007.13:g.138455977G>A	(Likely) pathogenic	1 lab	65e9fc998a
11:62460271 BSCL2 T>G	11	62460271	62460271	T	G	BSCL2	c.631-2A>C	NM_001122955.3	NP_001116427.1:p.?	NC_000011.9:g.62460271T>G	VUS	1 lab	09b3163121
19:36214639 KMT2B C>T	19	36214639	36214639	C	T	KMT2B	c.3065C>T	NM_014727.3	NP_055542.1:p.(Thr1022Met)	NC_000019.9:g.36214639C>T	VUS	1 lab	001c5d27aa
1:237777579 RYR2 C>T	1	237777579	237777579	C	T	RYR2	c.5151C>T	NM_001035.3	NP_001026.2:p.(Ala1717=)	NC_000001.10:g.237777579C>T	(Likely) benign	1 lab	65ec84200a
15:72106453 NR2E3 C>G	15	72106453	72106453	C	G	NR2E3	c.1095C>G	NM_014249.2	NP_055064.1:p.(Pro365=)	NC_000015.9:g.72106453C>G	VUS	1 lab	65ee13f6e4
12:116421292 MED13L A>AT	12	116421292	116421295	A	AT	MED13L				NC_000012.11:g.116421295dup	(Likely) pathogenic	1 lab	65f08e73f8
3:189585668 TP63 G>A	3	189585668	189585668	G	A	TP63	c.929G>A	NM_003722.4	NP_003713.3:p.(Ser310Asn)	NC_000003.11:g.189585668G>A	(Likely) pathogenic	1 lab	65f3a41382
16:3824553 CREBBP C>A	16	3824553	3824553	C	A	CREBBP	c.2283+17G>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3824553C>A	(Likely) benign	1 lab	34de5ad870
7:44180306 MYL7 C>G	7	44180306	44180306	C	G	MYL7	c.193+5G>C	NM_021223.2	NP_067046.1:p.?	NC_000007.13:g.44180306C>G	VUS	1 lab	65f5804c4d
2:47641550 MSH2 T>C	2	47641550	47641550	T	C	MSH2	c.935T>C	NM_000251.2	NP_000242.1:p.(Leu312Pro)	NC_000002.11:g.47641550T>C	VUS	1 lab	65f7539866
13:32912660 BRCA2 T>C	13	32912660	32912660	T	C	BRCA2	c.4168T>C	NM_000059.3	NP_000050.2:p.(Leu1390=)	NC_000013.10:g.32912660T>C	(Likely) benign	1 lab	65f8d508aa
13:32910716 BRCA2 C>A	13	32910716	32910716	C	A	BRCA2	c.2224C>A	NM_000059.4	NP_000050.3:p.(Gln742Lys)	NC_000013.10:g.32910716C>A	VUS	1 lab	65fc8f3767
17:29546090 NF1 T>C	17	29546090	29546090	T	C	NF1	c.1595T>C	NM_000267.3	NP_000258.1:p.(Leu532Pro)	NC_000017.10:g.29546090T>C	(Likely) pathogenic	1 lab	65fcd51a45
1:216465711 USH2A C>T	1	216465711	216465711	C	T	USH2A	c.1646G>A	NM_206933.2	NP_996816.2:p.(Cys549Tyr)	NC_000001.10:g.216465711C>T	VUS	1 lab	6600cff134
19:35775756 HAMP G>A	19	35775756	35775756	G	A	HAMP	c.150+5G>A	NM_021175.4	NP_066998.1:p.?	NC_000019.9:g.35775756G>A	VUS	1 lab	660389af3e
5:1085604 SLC12A7 C>A	5	1085604	1085604	C	A	SLC12A7	c.676-16G>T	NM_006598.2	NP_006589.2:p.?	NC_000005.9:g.1085604C>A	(Likely) benign	1 lab	660395ace6
7:104703998 KMT2E T>C	7	104703998	104703998	T	C	KMT2E	c.387T>C	NM_182931.3	NP_891847.1:p.(Asp129=)	NC_000007.13:g.104703998T>C	(Likely) benign	1 lab	00227053cf
3:41274874 CTNNB1 A>ACCTGAACAAG	3	41274874	41274875	A	ACCTGAACAAG	CTNNB1	c.1124_1125insCCTGAACAAG	NM_001904.3	NP_001895.1:p.(Gln375HisfsTer23)	NC_000003.11:g.41274874_41274875insCCTGAACAAG	(Likely) pathogenic	1 lab	66088a7f3a
13:23907061 SACS G>T	13	23907061	23907061	G	T	SACS	c.10954C>A	NM_014363.4	NP_055178.3:p.(Pro3652Thr)	NC_000013.10:g.23907061G>T	VUS	1 lab	660fec39d5
1:62970390 DOCK7 G>A	1	62970390	62970390	G	A	DOCK7				NC_000001.10:g.62970390G>A	(Likely) pathogenic	1 lab	66132f27c5
10:75011553 MRPS16 GC>G	10	75011553	75011557	GC	G	MRPS16	c.241del	NM_016065.3	NP_057149.1:p.(Ala81ProfsTer22)	NC_000010.10:g.75011557del	(Likely) pathogenic	1 lab	6617cd6d39
13:32944634 BRCA2 C>T	13	32944634	32944634	C	T	BRCA2	c.8427C>T	NM_000059.3	NP_000050.2:p.(Phe2809=)	NC_000013.10:g.32944634C>T	(Likely) benign	1 lab	6618af3016
1:165179933 LMX1A T>C	1	165179933	165179933	T	C	LMX1A	c.747+3A>G	NM_177398.4	NP_796372.1:p.?	NC_000001.10:g.165179933T>C	VUS	1 lab	661a0423cd
1:112524252 KCND3 G>A	1	112524252	112524252	G	A	KCND3	c.1097C>T	NM_004980.4	NP_004971.2:p.(Thr366Ile)	NC_000001.10:g.112524252G>A	(Likely) pathogenic	1 lab	661aa3c8aa
1:196695768 CFH T>C	1	196695768	196695768	T	C	CFH	c.2042T>C	NM_000186.3	NP_000177.2:p.(Leu681Ser)	NC_000001.10:g.196695768T>C	(Likely) benign	1 lab	661b880861
3:46902232 MYL3 G>A	3	46902232	46902232	G	A	MYL3	c.241C>T	NM_000258.3	NP_000249.1:p.(Arg81Trp)	NC_000003.11:g.46902232G>A	VUS	1 lab	661e4bc014
15:69728976 KIF23 T>C	15	69728976	69728976	T	C	KIF23	c.1470T>C	NM_138555.4	NP_612565.1:p.(Asp490=)	NC_000015.9:g.69728976T>C	(Likely) benign	1 lab	09b8f768b9
1:156106080 LMNA T>TG	1	156106080	156106085	T	TG	LMNA				NC_000001.10:g.156106085dup	VUS	1 lab	662ab45aa6
16:3306544 MEFV T>A	16	3306544	3306544	T	A	MEFV	c.44A>T	NM_000243.3	NP_000234.1:p.(Glu15Val)	NC_000016.9:g.3306544T>A	VUS	1 lab	676fc18843
14:23873552 MYH6 C>G	14	23873552	23873552	C	G	MYH6	c.688G>C	NM_002471.4	NP_002462.2:p.(Ala230Pro)	NC_000014.8:g.23873552C>G	(Likely) pathogenic	1 lab	662bd575c1
X:21624986 CNKSR2 C>T	X	21624986	21624986	C	T	CNKSR2	c.2134C>T	NM_014927.3	NP_055742.2:p.(Arg712Ter)	NC_000023.10:g.21624986C>T	(Likely) pathogenic	1 lab	662ed64385
16:1841730 IGFALS A>C	16	1841730	1841730	A	C	IGFALS	c.689T>G	NM_004970.3	NP_004961.1:p.(Leu230Arg)	NC_000016.9:g.1841730A>C	VUS	1 lab	663238df9a
X:53250045 KDM5C TC>T	X	53250045	53250046	TC	T	KDM5C	c.203del	NM_004187.5	NP_004178.2:p.(Arg68GlnfsTer5)	NC_000023.10:g.53250046del	(Likely) pathogenic	1 lab	002608303d
8:143996451 CYP11B2 A>G	8	143996451	143996451	A	G	CYP11B2	c.595+11T>C	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143996451A>G	(Likely) benign	1 lab	66364dd5cd
13:32912790 BRCA2 G>A	13	32912790	32912790	G	A	BRCA2	c.4298G>A	NM_000059.3	NP_000050.2:p.(Gly1433Glu)	NC_000013.10:g.32912790G>A	VUS	1 lab	663b315569
7:116339209 MET G>A	7	116339209	116339209	G	A	MET	c.71G>A	NM_000245.3	NP_000236.2:p.(Gly24Glu)	NC_000007.13:g.116339209G>A	(Likely) benign	1 lab	663b8b503d
20:62076073 KCNQ2 C>T	20	62076073	62076073	C	T	KCNQ2				NC_000020.10:g.62076073C>T	(Likely) pathogenic	1 lab	663d3c5407
17:60111243 MED13 T>C	17	60111243	60111243	T	C	MED13	c.719A>G	NM_005121.3	NP_005112.2:p.(Tyr240Cys)	NC_000017.10:g.60111243T>C	VUS	1 lab	0026adf69c
12:112888189 PTPN11 G>C	12	112888189	112888189	G	C	PTPN11	c.205G>C	NM_002834.3	NP_002825.3:p.(Glu69Gln)	NC_000012.11:g.112888189G>C	(Likely) pathogenic	1 lab	663f461f33
6:36275458 PNPLA1 T>C	6	36275458	36275458	T	C	PNPLA1	c.1564T>C	NM_001145717.1	NP_001139189.2:p.(Ser522Pro)	NC_000006.11:g.36275458T>C	(Likely) benign	1 lab	66405674e7
3:53781391 CACNA1D G>C	3	53781391	53781391	G	C	CACNA1D	c.3290G>C	NM_000720.4	NP_000711.1:p.(Trp1097Ser)	NC_000003.11:g.53781391G>C	VUS	1 lab	002b9a874d
16:23647219 PALB2 A>G	16	23647219	23647219	A	G	PALB2	c.648T>C	NM_024675.4	NP_078951.2:p.(Ile216=)	NC_000016.9:g.23647219A>G	(Likely) benign	1 lab	6641876757
11:2411627 CD81 C>T	11	2411627	2411627	C	T	CD81	c.67-15C>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2411627C>T	(Likely) benign	1 lab	09ba7e64b7
3:186390627 HRG C>T	3	186390627	186390627	C	T	HRG	c.610C>T	NM_000412.5	NP_000403.1:p.(Pro204Ser)	NC_000003.11:g.186390627C>T	(Likely) benign	1 lab	002cd9483d
X:73962515 NEXMIF C>T	X	73962515	73962515	C	T	NEXMIF	c.1877G>A	NM_001008537.2	NP_001008537.1:p.(Arg626His)	NC_000023.10:g.73962515C>T	VUS	1 lab	66470bfbd1
20:57829608 ZNF831 G>A	20	57829608	57829608	G	A	ZNF831	c.4844G>A	NM_178457.1	NP_848552.1:p.(Arg1615His)	NC_000020.10:g.57829608G>A	(Likely) benign	1 lab	664770c496
4:120107522 MYOZ2 C>T	4	120107522	120107522	C	T	MYOZ2	c.*167C>T	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107522C>T	(Likely) benign	1 lab	6665eb2e12
3:46620645 CRIPTO A>G	3	46620645	46620645	A	G	CRIPTO	c.88+8A>G	NM_003212.3	NP_003203.1:p.?	NC_000003.11:g.46620645A>G	(Likely) benign	1 lab	664d6f9062
3:12645694 RAF1 A>T	3	12645694	12645694	A	T	RAF1				NC_000003.11:g.12645694A>T	(Likely) pathogenic	1 lab	664dd83544
6:31918557 CFB C>T	6	31918557	31918557	C	T	CFB	c.1778+8C>T	NM_001710.6	NP_001701.2:p.?	NC_000006.11:g.31918557C>T	(Likely) benign	1 lab	664f8f58cd
20:61980991 CHRNA4 T>G	20	61980991	61980991	T	G	CHRNA4	c.1758+14A>C	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61980991T>G	(Likely) benign	1 lab	09bb982554
2:179529385 TTN A>T	2	179529385	179529385	A	T	TTN	c.36198T>A	NM_001267550.2	NP_001254479.2:p.(Asp12066Glu)	NC_000002.11:g.179529385A>T	(Likely) benign	1 lab	665657ef09
5:151202467 GLRA1 A>G	5	151202467	151202467	A	G	GLRA1	c.1141T>C	NM_001146040.1	NP_001139512.1:p.(Cys381Arg)	NC_000005.9:g.151202467A>G	VUS	1 lab	665c92f06a
1:103471389 COL11A1 C>G	1	103471389	103471389	C	G	COL11A1	c.1845+5G>C	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103471389C>G	VUS	1 lab	6660a5f916
17:74536225 PRCD T>C	17	74536225	74536225	T	C	PRCD				NC_000017.10:g.74536225T>C	(Likely) pathogenic	1 lab	6e40c12294
2:47643490 MSH2 G>T	2	47643490	47643490	G	T	MSH2	c.998G>T	NM_000251.2	NP_000242.1:p.(Cys333Phe)	NC_000002.11:g.47643490G>T	VUS	1 lab	66665ca17c
2:47702367 MSH2 G>A	2	47702367	47702367	G	A	MSH2	c.1963G>A	NM_000251.2	NP_000242.1:p.(Val655Ile)	NC_000002.11:g.47702367G>A	(Likely) benign	1 lab	6668e7e580
1:207940997 CD46 G>A	1	207940997	207940997	G	A	CD46	c.901+1G>A	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207940997G>A	VUS	1 lab	66694104bd
12:49433388 KMT2D G>A	12	49433388	49433388	G	A	KMT2D				NC_000012.11:g.49433388G>A	(Likely) pathogenic	1 lab	666ae92baf
16:3779472 CREBBP AGGCGGTGCTGGATCTGCTGCT>A	16	3779472	3779498	AGGCGGTGCTGGATCTGCTGCT	A	CREBBP	c.5555_5575del	NM_004380.3	NP_004371.2:p.(Gln1852_Arg1858del)	NC_000016.9:g.3779478_3779498del	(Likely) pathogenic	1 lab	0031d9898f
19:1226596 STK11 T>A	19	1226596	1226596	T	A	STK11	c.1252T>A	NM_000455.5	NP_000446.1:p.(Cys418Ser)	NC_000019.9:g.1226596T>A	(Likely) benign	1 lab	6670fda7f9
20:62130403 EEF1A2 G>T	20	62130403	62130403	G	T	EEF1A2				NC_000020.10:g.62130403G>T	(Likely) benign	1 lab	6671d51a14
1:201017811 CACNA1S C>T	1	201017811	201017811	C	T	CACNA1S	c.4340G>A	NM_000069.2	NP_000060.2:p.(Arg1447Gln)	NC_000001.10:g.201017811C>T	VUS	1 lab	66748f3b84
X:153588883 FLNA C>T	X	153588883	153588883	C	T	FLNA	c.3280G>A	NM_001110556.1	NP_001104026.1:p.(Gly1094Ser)	NC_000023.10:g.153588883C>T	VUS	1 lab	66752b1590
16:1507358 CLCN7 G>A	16	1507358	1507358	G	A	CLCN7	c.739-20C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1507358G>A	(Likely) benign	1 lab	6676b72837
1:899899 KLHL17 G>T	1	899899	899899	G	T	KLHL17	c.1689G>T	NM_198317.2	NP_938073.1:p.(Met563Ile)	NC_000001.10:g.899899G>T	VUS	1 lab	667aca3c22
2:113670640 IL37 G>A	2	113670640	113670640	G	A	IL37	c.51G>A	NM_014439.3	NP_055254.2:p.(Trp17Ter)	NC_000002.11:g.113670640G>A	VUS	1 lab	667acf0a7f
3:47517416 SCAP T>C	3	47517416	47517416	T	C	SCAP	c.-226A>G	NM_012235.2	NP_036367.2:p.?	NC_000003.11:g.47517416T>C	(Likely) benign	1 lab	667de6d488
6:80657086 ELOVL4 C>G	6	80657086	80657086	C	G	ELOVL4	c.-90G>C	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80657086C>G	(Likely) benign	1 lab	6681f325ec
16:23635283 PALB2 G>A	16	23635283	23635283	G	A	PALB2	c.2834+47C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23635283G>A	(Likely) benign	1 lab	6688d78782
5:61676954 KIF2A C>T	5	61676954	61676954	C	T	KIF2A	c.1909C>T	NM_004520.4	NP_004511.2:p.(Arg637Trp)	NC_000005.9:g.61676954C>T	VUS	1 lab	668b0a5c57
10:79163646 KCNMA1 C>T	10	79163646	79163646	C	T	KCNMA1	c.514G>A	NM_001161352.1	NP_001154824.1:p.(Ala172Thr)	NC_000010.10:g.79163646C>T	VUS	1 lab	668bfd1021
2:228118305 COL4A3 G>A	2	228118305	228118305	G	A	COL4A3	c.716G>A	NM_000091.4	NP_000082.2:p.(Gly239Glu)	NC_000002.11:g.228118305G>A	(Likely) pathogenic	1 lab	6692d932b5
20:60907781 LAMA5 G>C	20	60907781	60907781	G	C	LAMA5	c.3283-8C>G	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60907781G>C	(Likely) benign	1 lab	09bcb45e42
2:48915089 LHCGR G>A	2	48915089	48915089	G	A	LHCGR	c.1847C>T	NM_000233.4	NP_000224.2:p.(Ser616Phe)	NC_000002.11:g.48915089G>A	(Likely) pathogenic	1 lab	6695632401
1:160104996 ATP1A2 G>A	1	160104996	160104996	G	A	ATP1A2	c.2026G>A	NM_000702.3	NP_000693.1:p.(Asp676Asn)	NC_000001.10:g.160104996G>A	(Likely) benign	1 lab	6695b47630
4:88583333 DMP1 G>T	4	88583333	88583333	G	T	DMP1	c.403G>T	NM_004407.3	NP_004398.1:p.(Gly135Ter)	NC_000004.11:g.88583333G>T	(Likely) pathogenic	1 lab	669bb6b0a6
7:128498022 FLNC C>G	7	128498022	128498022	C	G	FLNC	c.7781-40C>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128498022C>G	(Likely) benign	1 lab	669bbf5d88
1:196759281 CFHR3 G>C	1	196759281	196759281	G	C	CFHR3	c.720G>C	NM_021023.5	NP_066303.2:p.(Gln240His)	NC_000001.10:g.196759281G>C	(Likely) benign	1 lab	669c4b30aa
3:122003184 CASR C>T	3	122003184	122003184	C	T	CASR	c.2383C>T	NM_000388.3	NP_000379.2:p.(Arg795Trp)	NC_000003.11:g.122003184C>T	(Likely) pathogenic	1 lab	66a01382fd
2:98351750 ZAP70 G>A	2	98351750	98351750	G	A	ZAP70	c.1120G>A	NM_001079.3	NP_001070.2:p.(Gly374Ser)	NC_000002.11:g.98351750G>A	(Likely) benign	1 lab	09bd8ab0b1
10:436257 MISSING G>A	10	436257	436257	G	A	MISSING				NC_000010.10:g.436257G>A	(Likely) pathogenic	1 lab	7c47d400db
6:132207746 ENPP1 ACTT>A	6	132207746	132207752	ACTT	A	ENPP1	c.2493_2495del	NM_006208.2	NP_006199.2:p.(Phe832del)	NC_000006.11:g.132207750_132207752del	VUS	1 lab	66a18d5a31
11:110118523 RDX A>G	11	110118523	110118523	A	G	RDX	c.995T>C	NM_002906.3	NP_002897.1:p.(Ile332Thr)	NC_000011.9:g.110118523A>G	VUS	1 lab	66a2091bcf
X:114879420 MISSING G>A	X	114879420	114879420	G	A	MISSING				NC_000023.10:g.114879420G>A	(Likely) pathogenic	1 lab	66a87d1dc6
2:227886925 COL4A4 C>T	2	227886925	227886925	C	T	COL4A4	c.4091-36G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227886925C>T	(Likely) benign	1 lab	66acbf82ec
3:120394689 HGD C>T	3	120394689	120394689	C	T	HGD	c.37G>A	NM_000187.3	NP_000178.2:p.(Glu13Lys)	NC_000003.11:g.120394689C>T	VUS	1 lab	66af5a56a8
11:61727385 BEST1 G>T	11	61727385	61727385	G	T	BEST1	c.970G>T	NM_004183.3	NP_004174.1:p.(Glu324Ter)	NC_000011.9:g.61727385G>T	(Likely) pathogenic	1 lab	66b0662f09
7:16415765 CRPPA T>G	7	16415765	16415765	T	G	CRPPA	c.636A>C	NM_001101426.3	NP_001094896.1:p.(Glu212Asp)	NC_000007.13:g.16415765T>G	VUS	1 lab	66ba98334f
1:94514425 ABCA4 G>A	1	94514425	94514425	G	A	ABCA4	c.2742C>T	NM_000350.2	NP_000341.2:p.(His914=)	NC_000001.10:g.94514425G>A	(Likely) benign	1 lab	66bc851482
X:85218837 CHM C>A	X	85218837	85218837	C	A	CHM	c.535G>T	NM_000390.2	NP_000381.1:p.(Glu179Ter)	NC_000023.10:g.85218837C>A	(Likely) pathogenic	1 lab	66f5c498e8
1:100701038 DBT GC>G	1	100701038	100701039	GC	G	DBT	c.204del	NM_001918.5	NP_001909.4:p.(Lys68AsnfsTer12)	NC_000001.10:g.100701039del	(Likely) pathogenic	1 lab	66be566ba7
1:152284594 FLG G>GA	1	152284594	152284595	G	GA	FLG	c.2767dup	NM_002016.2	NP_002007.1:p.(Ser923PhefsTer2)	NC_000001.10:g.152284595dup	(Likely) pathogenic	1 lab	66c8f4c62c
3:52485308 TNNC1 T>C	3	52485308	52485308	T	C	TNNC1	c.469A>G	NM_003280.3	NP_003271.1:p.(Met157Val)	NC_000003.11:g.52485308T>C	VUS	1 lab	004339634e
10:18439899 CACNB2 C>T	10	18439899	18439899	C	T	CACNB2	c.208C>T	NM_201596.2	NP_963890.2:p.(Arg70Cys)	NC_000010.10:g.18439899C>T	(Likely) benign	1 lab	66cc0ed5e2
1:196977816 CFHR5 C>G	1	196977816	196977816	C	G	CFHR5	c.*3C>G	NM_030787.3	NP_110414.1:p.?	NC_000001.10:g.196977816C>G	VUS	1 lab	66d1eacb76
7:124475296 POT1 TAAACA>T	7	124475296	124475329	TAAACA	T	POT1	c.1505+32_1505+36del	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124475325_124475329del	(Likely) benign	1 lab	004793222a
16:15814152 MYH11 C>T	16	15814152	15814152	C	T	MYH11	c.4830G>A	NM_001040114.1	NP_001035203.1:p.(Thr1610=)	NC_000016.9:g.15814152C>T	(Likely) benign	1 lab	66da7017bd
9:71650700 FXN T>C	9	71650700	71650700	T	C	FXN	c.2T>C	NM_000144.4	NP_000135.2:p.(Met1?)	NC_000009.11:g.71650700T>C	(Likely) pathogenic	1 lab	66db734d1a
2:32361950 SPAST A>T	2	32361950	32361950	A	T	SPAST	c.1326A>T	NM_014946.3	NP_055761.2:p.(Glu442Asp)	NC_000002.11:g.32361950A>T	(Likely) pathogenic	1 lab	66dbc48428
2:152552812 NEB T>C	2	152552812	152552812	T	C	NEB	c.1569+339A>G	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152552812T>C	(Likely) pathogenic	1 lab	66def822ff
18:48586344 SMAD4 C>T	18	48586344	48586344	C	T	SMAD4	c.955+58C>T	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48586344C>T	(Likely) benign	1 lab	66e18e2765
2:220290920 DES G>A	2	220290920	220290920	G	A	DES	c.*208G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290920G>A	(Likely) benign	1 lab	66e1a53892
15:41224627 DLL4 G>A	15	41224627	41224627	G	A	DLL4	c.832G>A	NM_019074.3	NP_061947.1:p.(Gly278Ser)	NC_000015.9:g.41224627G>A	(Likely) pathogenic	1 lab	66e2639c32
1:225591082 LBR A>G	1	225591082	225591082	A	G	LBR	c.1771T>C	NM_002296.4	NP_002287.2:p.(Cys591Arg)	NC_000001.10:g.225591082A>G	VUS	1 lab	00484537c2
2:5833525 SOX11 G>GGAC	2	5833525	5833554	G	GGAC	SOX11	c.699_701dup	NM_003108.4	NP_003099.1:p.(Asp233dup)	NC_000002.11:g.5833552_5833554dup	VUS	1 lab	00503d6de8
11:108202194 C11orf65 A>C	11	108202194	108202194	A	C	C11orf65				NC_000011.9:g.108202194A>C	(Likely) benign	1 lab	66e3da37cf
17:7579470 TP53 C>T	17	7579470	7579470	C	T	TP53	c.217G>A	NM_000546.5	NP_000537.3:p.(Val73Met)	NC_000017.10:g.7579470C>T	(Likely) benign	1 lab	66e4d8f669
8:21905722 FGF17 C>T	8	21905722	21905722	C	T	FGF17	c.613C>T	NM_003867.2	NP_003858.1:p.(Arg205Trp)	NC_000008.10:g.21905722C>T	VUS	1 lab	66e59853e4
17:66526133 PRKAR1A G>T	17	66526133	66526133	G	T	PRKAR1A	c.964G>T	NM_002734.5	NP_002725.1:p.(Asp322Tyr)	NC_000017.10:g.66526133G>T	VUS	1 lab	66e8076d04
8:1645455 DLGAP2 C>T	8	1645455	1645455	C	T	DLGAP2				NC_000008.10:g.1645455C>T	VUS	1 lab	7ccda985c7
1:16371032 CLCNKB T>C	1	16371032	16371032	T	C	CLCNKB	c.45T>C	NM_000085.4	NP_000076.2:p.(Pro15=)	NC_000001.10:g.16371032T>C	(Likely) benign	1 lab	66e9d59c2c
10:67680136 CTNNA3 G>GA	10	67680136	67680137	G	GA	CTNNA3	c.2639dup	NM_013266.3	NP_037398.2:p.(His881ProfsTer8)	NC_000010.10:g.67680137dup	VUS	1 lab	66ecf142de
3:38936341 SCN11A G>A	3	38936341	38936341	G	A	SCN11A	c.2518C>T	NM_001349253.2	NP_001336182.1:p.(Arg840Cys)	NC_000003.11:g.38936341G>A	(Likely) benign	1 lab	66efaf34da
18:48592020 SMAD4 T>C	18	48592020	48592020	T	C	SMAD4	c.1139+44T>C	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48592020T>C	(Likely) benign	1 lab	66f0130553
1:154164431 TPM3 G>A	1	154164431	154164431	G	A	TPM3	c.64C>T	NM_152263.3	NP_689476.2:p.(Arg22Trp)	NC_000001.10:g.154164431G>A	VUS	1 lab	66f2b6d3da
11:22248861 ANO5 G>T	11	22248861	22248861	G	T	ANO5	c.377G>T	NM_213599.2	NP_998764.1:p.(Gly126Val)	NC_000011.9:g.22248861G>T	VUS	1 lab	66f33a086a
2:233350645 ECEL1 C>A	2	233350645	233350645	C	A	ECEL1	c.719G>T	NM_004826.3	NP_004817.2:p.(Ser240Ile)	NC_000002.11:g.233350645C>A	(Likely) pathogenic	1 lab	66f48dbcff
1:54670971 MRPL37 G>A	1	54670971	54670971	G	A	MRPL37	c.534G>A	NM_016491.4	NP_057575.2:p.(Pro178=)	NC_000001.10:g.54670971G>A	VUS	1 lab	0fe0f78b80
7:135285707 NUP205 G>A	7	135285707	135285707	G	A	NUP205	c.2364G>A	NM_015135.2	NP_055950.1:p.(Val788=)	NC_000007.13:g.135285707G>A	(Likely) benign	1 lab	09be9fc001
1:43396395 SLC2A1 C>A	1	43396395	43396395	C	A	SLC2A1	c.418G>T	NM_006516.2	NP_006507.2:p.(Val140Leu)	NC_000001.10:g.43396395C>A	VUS	1 lab	66fab537e3
18:48575236 SMAD4 T>C	18	48575236	48575236	T	C	SMAD4	c.424+6T>C	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48575236T>C	(Likely) benign	1 lab	66fb231a36
12:25378702 KRAS T>A	12	25378702	25378702	T	A	KRAS	c.296A>T	NM_033360.3	NP_203524.1:p.(Gln99Leu)	NC_000012.11:g.25378702T>A	VUS	1 lab	66fd9d39cd
18:19057255 GREB1L C>T	18	19057255	19057255	C	T	GREB1L	c.2494C>T	NM_001142966.2	NP_001136438.1:p.(Gln832Ter)	NC_000018.9:g.19057255C>T	VUS	1 lab	66fed4f638
7:117120133 CFTR C>T	7	117120133	117120133	C	T	CFTR	c.-16C>T	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117120133C>T	(Likely) benign	1 lab	67020cd776
21:43800264 TMPRSS3 AC>A	21	43800264	43800265	AC	A	TMPRSS3	c.1009del	NM_024022.4	NP_076927.1:p.(Val337CysfsTer21)	NC_000021.8:g.43800265del	(Likely) pathogenic	1 lab	6702656901
21:47409694 COL6A1 T>A	21	47409694	47409694	T	A	COL6A1	c.930+2T>A	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47409694T>A	(Likely) pathogenic	1 lab	6704f9b226
8:10467604 RP1L1 C>A	8	10467604	10467604	C	A	RP1L1	c.4004G>T	NM_178857.5	NP_849188.4:p.(Gly1335Val)	NC_000008.10:g.10467604C>A	(Likely) benign	1 lab	6706fda1e7
13:110813623 COL4A1 T>C	13	110813623	110813623	T	C	COL4A1	c.4556A>G	NM_001845.6	NP_001836.3:p.(Tyr1519Cys)	NC_000013.10:g.110813623T>C	VUS	1 lab	670888040d
11:76901856 MYO7A G>A	11	76901856	76901856	G	A	MYO7A	c.3865G>A	NM_000260.3	NP_000251.3:p.(Asp1289Asn)	NC_000011.9:g.76901856G>A	VUS	1 lab	670c89b73d
13:23909142 SACS T>C	13	23909142	23909142	T	C	SACS				NC_000013.10:g.23909142T>C	(Likely) benign	1 lab	670f0fbd86
17:16843710 TNFRSF13B C>T	17	16843710	16843710	C	T	TNFRSF13B	c.561G>A	NM_012452.2	NP_036584.1:p.(Lys187=)	NC_000017.10:g.16843710C>T	(Likely) benign	1 lab	09bfaa369a
20:10620514 JAG1 G>A	20	10620514	10620514	G	A	JAG1	c.3289C>T	NM_000214.2	NP_000205.1:p.(Arg1097Trp)	NC_000020.10:g.10620514G>A	VUS	1 lab	67121ad914
3:37048493 MLH1 C>G	3	37048493	37048493	C	G	MLH1	c.392C>G	NM_000249.3	NP_000240.1:p.(Ser131Ter)	NC_000003.11:g.37048493C>G	(Likely) pathogenic	1 lab	67162ea5d0
13:23909298 SACS C>T	13	23909298	23909298	C	T	SACS	c.8717G>A	NM_014363.5	NP_055178.3:p.(Arg2906Gln)	NC_000013.10:g.23909298C>T	VUS	1 lab	6718443ed5
2:167262143 SCN7A C>T	2	167262143	167262143	C	T	SCN7A	c.4996G>A	NM_002976.3	NP_002967.2:p.(Gly1666Ser)	NC_000002.11:g.167262143C>T	(Likely) benign	1 lab	6719eccd8b
17:70118955 SOX9 C>T	17	70118955	70118955	C	T	SOX9	c.527C>T	NM_000346.3	NP_000337.1:p.(Pro176Leu)	NC_000017.10:g.70118955C>T	(Likely) pathogenic	1 lab	672052755f
17:41246038 BRCA1 G>A	17	41246038	41246038	G	A	BRCA1	c.1510C>T	NM_007294.3	NP_009225.1:p.(Arg504Cys)	NC_000017.10:g.41246038G>A	(Likely) benign	1 lab	672184b99a
6:31918476 CFB A>C	6	31918476	31918476	A	C	CFB	c.1705A>C	NM_001710.5	NP_001701.2:p.(Ile569Leu)	NC_000006.11:g.31918476A>C	VUS	1 lab	6722851258
1:193119512 CDC73 G>A	1	193119512	193119512	G	A	CDC73	c.907G>A	NM_024529.5	NP_078805.3:p.(Glu303Lys)	NC_000001.10:g.193119512G>A	(Likely) pathogenic	1 lab	6722e13ee3
1:955619 AGRN G>C	1	955619	955619	G	C	AGRN	c.67G>C	NM_198576.4	NP_940978.2:p.(Val23Leu)	NC_000001.10:g.955619G>C	(Likely) benign	1 lab	1065e505bb
7:107330593 SLC26A4 A>T	7	107330593	107330593	A	T	SLC26A4	c.1174A>T	NM_000441.1	NP_000432.1:p.(Asn392Tyr)	NC_000007.13:g.107330593A>T	(Likely) pathogenic	1 lab	6726b4aa8a
18:10748463 PIEZO2 A>T	18	10748463	10748463	A	T	PIEZO2	c.4349+6T>A	NM_022068.4	NP_071351.2:p.?	NC_000018.9:g.10748463A>T	VUS	1 lab	0051589dcd
1:112524738 KCND3 G>C	1	112524738	112524738	G	C	KCND3	c.611C>G	NM_004980.4	NP_004971.2:p.(Thr204Arg)	NC_000001.10:g.112524738G>C	VUS	1 lab	672b260d1d
7:6029551 PMS2 G>A	7	6029551	6029551	G	A	PMS2	c.1024C>T	NM_000535.5	NP_000526.1:p.(Gln342Ter)	NC_000007.13:g.6029551G>A	(Likely) pathogenic	1 lab	672c476159
10:88476105 LDB3 C>T	10	88476105	88476105	C	T	LDB3	c.1253C>T	NM_007078.2	NP_009009.1:p.(Pro418Leu)	NC_000010.10:g.88476105C>T	VUS	1 lab	672fd05ad0
17:41245683 BRCA1 G>C	17	41245683	41245683	G	C	BRCA1	c.1865C>G	NM_007294.3	NP_009225.1:p.(Ala622Gly)	NC_000017.10:g.41245683G>C	VUS	1 lab	6730d3697d
9:130586582 ENG C>T	9	130586582	130586582	C	T	ENG	c.1134+1G>A	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130586582C>T	(Likely) pathogenic	1 lab	09c449be07
10:89720876 PTEN G>T	10	89720876	89720876	G	T	PTEN	c.1026+1G>T	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720876G>T	(Likely) pathogenic	1 lab	673750b700
3:136046081 PCCB C>T	3	136046081	136046081	C	T	PCCB	c.1283C>T	NM_000532.5	NP_000523.2:p.(Thr428Ile)	NC_000003.11:g.136046081C>T	(Likely) pathogenic	1 lab	673884cd0f
2:44528267 SLC3A1 GT>G	2	44528267	44528269	GT	G	SLC3A1	c.1136+3del	NM_000341.4	NP_000332.2:p.?	NC_000002.11:g.44528269del	(Likely) benign	1 lab	09c47f8bbf
10:89727174 PTEN G>A	10	89727174	89727174	G	A	PTEN	c.*1945G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89727174G>A	(Likely) benign	1 lab	673cd50b4d
1:215812529 USH2A G>A	1	215812529	215812529	G	A	USH2A	c.15020C>T	NM_206933.2	NP_996816.2:p.(Pro5007Leu)	NC_000001.10:g.215812529G>A	(Likely) pathogenic	1 lab	673d1c103f
8:43033360 HGSNAT A>G	8	43033360	43033360	A	G	HGSNAT	c.995A>G	NM_152419.2	NP_689632.2:p.(Asn332Ser)	NC_000008.10:g.43033360A>G	VUS	1 lab	673f167bc7
2:60687835 BCL11A C>T	2	60687835	60687835	C	T	BCL11A				NC_000002.11:g.60687835C>T	VUS	1 lab	6795c20578
13:20763471 GJB2 C>A	13	20763471	20763471	C	A	GJB2	c.250G>T	NM_004004.5	NP_003995.2:p.(Val84Leu)	NC_000013.10:g.20763471C>A	VUS	1 lab	673f43adbf
13:32973439 BRCA2 A>G	13	32973439	32973439	A	G	BRCA2	c.*532A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32973439A>G	(Likely) benign	1 lab	674c07241d
1:207658799 CR2 TTC>T	1	207658799	207658802	TTC	T	CR2	c.3189-8_3189-7del	NM_001006658.3	NP_001006659.1:p.?	NC_000001.10:g.207658801_207658802del	(Likely) benign	1 lab	09c584f515
4:79393572 FRAS1 C>T	4	79393572	79393572	C	T	FRAS1	c.7522+88C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79393572C>T	(Likely) benign	1 lab	09c8649d91
19:36219711 KMT2B G>A	19	36219711	36219711	G	A	KMT2B	c.4608G>A	NM_014727.3	NP_055542.1:p.(Leu1536=)	NC_000019.9:g.36219711G>A	(Likely) pathogenic	1 lab	674cc1576b
11:118375759 KMT2A C>T	11	118375759	118375759	C	T	KMT2A	c.9152C>T	NM_001197104.2	NP_001184033.1:p.(Pro3051Leu)	NC_000011.9:g.118375759C>T	VUS	1 lab	0053cd0a9c
17:40932749 WNK4 C>T	17	40932749	40932749	C	T	WNK4	c.33C>T	NM_032387.5	NP_115763.2:p.(Val11=)	NC_000017.10:g.40932749C>T	(Likely) benign	1 lab	09ca51452b
14:23858084 MYH6 C>T	14	23858084	23858084	C	T	MYH6	c.4159G>A	NM_002471.4	NP_002462.2:p.(Glu1387Lys)	NC_000014.8:g.23858084C>T	VUS	1 lab	674f76fd58
9:136509448 DBH C>G	9	136509448	136509448	C	G	DBH	c.1024+6C>G	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136509448C>G	(Likely) benign	1 lab	67523d9c1c
16:68845757 CDH1 C>T	16	68845757	68845757	C	T	CDH1	c.1003C>T	NM_004360.3	NP_004351.1:p.(Arg335Ter)	NC_000016.9:g.68845757C>T	(Likely) pathogenic	1 lab	6754d0645d
13:32937502 BRCA2 T>TA	13	32937502	32937503	T	TA	BRCA2	c.8164dup	NM_000059.3	NP_000050.2:p.(Thr2722AsnfsTer8)	NC_000013.10:g.32937503dup	(Likely) pathogenic	1 lab	67558338fa
10:13337587 PHYH C>T	10	13337587	13337587	C	T	PHYH	c.154G>A	NM_006214.3	NP_006205.1:p.(Val52Ile)	NC_000010.10:g.13337587C>T	(Likely) benign	1 lab	67568779b5
4:52899758 SGCB C>A	4	52899758	52899758	C	A	SGCB				NC_000004.11:g.52899758C>A	(Likely) pathogenic	1 lab	6758ff6255
22:32198868 DEPDC5 C>A	22	32198868	32198868	C	A	DEPDC5	c.1081+44C>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32198868C>A	(Likely) benign	1 lab	09caa6fa50
11:17464424 ABCC8 A>C	11	17464424	17464424	A	C	ABCC8	c.1473T>G	NM_001287174.1	NP_001274103.1:p.(Tyr491Ter)	NC_000011.9:g.17464424A>C	(Likely) pathogenic	1 lab	676e68b2f1
2:179528601 TTN GC>AG	2	179528601	179528602	GC	AG	TTN	c.36392_36393delinsCT	NM_001267550.2	NP_001254479.2:p.(Arg12131Pro)	NC_000002.11:g.179528601_179528602delinsAG	(Likely) benign	1 lab	675b148d68
7:143013488 CLCN1 A>T	7	143013488	143013488	A	T	CLCN1	c.180+3A>T	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143013488A>T	(Likely) pathogenic	1 lab	675d47a409
9:140918170 CACNA1B TGGAGAAGGAGACCAC>T	9	140918170	140918195	TGGAGAAGGAGACCAC	T	CACNA1B	c.2986_3000del	NM_000718.4	NP_000709.1:p.(Thr996_Glu1000del)	NC_000009.11:g.140918181_140918195del	(Likely) benign	1 lab	00542f5065
10:88671938 BMPR1A T>C	10	88671938	88671938	T	C	BMPR1A	c.531-59T>C	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88671938T>C	(Likely) benign	1 lab	675f2a70c1
7:128483319 FLNC C>G	7	128483319	128483319	C	G	FLNC	c.2587C>G	NM_001458.5	NP_001449.3:p.(Pro863Ala)	NC_000007.13:g.128483319C>G	VUS	1 lab	675fa699c6
7:100226921 TFR2 T>C	7	100226921	100226921	T	C	TFR2				NC_000007.13:g.100226921T>C	VUS	1 lab	691b84a2d7
4:77659991 SHROOM3 G>GGCTC	4	77659991	77659992	G	GGCTC	SHROOM3	c.665_666insGCTC	NM_020859.3	NP_065910.3:p.(Ser222ArgfsTer27)	NC_000004.11:g.77659991_77659992insGCTC	VUS	1 lab	676176c636
1:207934666 CD46 A>G	1	207934666	207934666	A	G	CD46	c.548A>G	NM_002389.4	NP_002380.3:p.(Tyr183Cys)	NC_000001.10:g.207934666A>G	VUS	1 lab	67648b71ef
11:76892594 MYO7A G>A	11	76892594	76892594	G	A	MYO7A	c.2863G>A	NM_000260.4	NP_000251.3:p.(Gly955Ser)	NC_000011.9:g.76892594G>A	(Likely) pathogenic	1 lab	6766a510f6
17:79892271 PYCR1 T>C	17	79892271	79892271	T	C	PYCR1	c.728A>G	NM_006907.2	NP_008838.2:p.(His243Arg)	NC_000017.10:g.79892271T>C	VUS	1 lab	676808b973
2:227907934 COL4A4 G>A	2	227907934	227907934	G	A	COL4A4	c.3290-34C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227907934G>A	(Likely) benign	1 lab	6769675ef0
22:29090058 CHEK2 A>T	22	29090058	29090058	A	T	CHEK2	c.1423T>A	NM_007194.4	NP_009125.1:p.(Phe475Ile)	NC_000022.10:g.29090058A>T	VUS	1 lab	09cc26c795
18:77895375 ADNP2 G>A	18	77895375	77895375	G	A	ADNP2	c.2079G>A	NM_014913.3	NP_055728.1:p.(Trp693Ter)	NC_000018.9:g.77895375G>A	VUS	1 lab	676c208e9e
2:47637206 MSH2 A>C	2	47637206	47637206	A	C	MSH2	c.367-27A>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47637206A>C	(Likely) benign	1 lab	676cdef305
2:179458195 TTN A>G	2	179458195	179458195	A	G	TTN	c.58740T>C	NM_001267550.1	NP_001254479.1:p.(Pro19580=)	NC_000002.11:g.179458195A>G	(Likely) benign	1 lab	67710ec62d
11:64572664 MEN1 G>A	11	64572664	64572664	G	A	MEN1	c.1207C>T	NM_130803.2	NP_570715.1:p.(Gln403Ter)	NC_000011.9:g.64572664G>A	(Likely) pathogenic	1 lab	388b361f3e
1:12317147 VPS13D A>G	1	12317147	12317147	A	G	VPS13D	c.941+3A>G	NM_015378.3	NP_056193.2:p.?	NC_000001.10:g.12317147A>G	(Likely) pathogenic	1 lab	677275abef
12:48389649 COL2A1 G>T	12	48389649	48389649	G	T	COL2A1	c.654+9C>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48389649G>T	(Likely) benign	1 lab	6776047b0b
1:39853905 MACF1 A>T	1	39853905	39853905	A	T	MACF1	c.9205A>T	NM_012090.5	NP_036222.3:p.(Met3069Leu)	NC_000001.10:g.39853905A>T	VUS	1 lab	0056f698c0
1:201341177 TNNT2 GA>G	1	201341177	201341179	GA	G	TNNT2	c.53-9del	NM_000364.4	NP_000355.2:p.?	NC_000001.10:g.201341179del	(Likely) benign	1 lab	677d9a7e47
17:39913732 JUP G>A	17	39913732	39913732	G	A	JUP	c.1981C>T	NM_021991.2	NP_068831.1:p.(Arg661Trp)	NC_000017.10:g.39913732G>A	(Likely) benign	1 lab	677db808ed
22:37465322 TMPRSS6 G>A	22	37465322	37465322	G	A	TMPRSS6	c.1931C>T	NM_153609.3	NP_705837.1:p.(Pro644Leu)	NC_000022.10:g.37465322G>A	VUS	1 lab	677f929892
X:40457780 ATP6AP2 C>T	X	40457780	40457780	C	T	ATP6AP2	c.535-153C>T	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40457780C>T	(Likely) benign	1 lab	0a23632249
22:36702021 MYH9 C>A	22	36702021	36702021	C	A	MYH9	c.2114G>T	NM_002473.6	NP_002464.1:p.(Arg705Leu)	NC_000022.10:g.36702021C>A	(Likely) pathogenic	1 lab	67832869d9
2:112722856 MERTK T>C	2	112722856	112722856	T	C	MERTK	c.844+2T>C	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112722856T>C	(Likely) pathogenic	1 lab	6784f527ef
4:110681732 CFI G>C	4	110681732	110681732	G	C	CFI				NC_000004.11:g.110681732G>C	(Likely) pathogenic	1 lab	67853e1c77
X:153641880 TAFAZZIN G>C	X	153641880	153641880	G	C	TAFAZZIN	c.346G>C	NM_000116.3	NP_000107.1:p.(Gly116Arg)	NC_000023.10:g.153641880G>C	VUS	1 lab	6788b1fb4b
5:132232148 AFF4 C>G	5	132232148	132232148	C	G	AFF4	c.2174G>C	NM_014423.4	NP_055238.1:p.(Arg725Thr)	NC_000005.9:g.132232148C>G	(Likely) benign	1 lab	00591d279a
4:114209691 ANK2 C>T	4	114209691	114209691	C	T	ANK2	c.2277+49C>T	NM_001148.6	NP_001139.3:p.?	NC_000004.11:g.114209691C>T	(Likely) benign	1 lab	005de39c16
21:38862503 DYRK1A C>T	21	38862503	38862503	C	T	DYRK1A	c.664C>T	NM_130436.2	NP_569120.1:p.(Arg222Ter)	NC_000021.8:g.38862503C>T	(Likely) pathogenic	1 lab	005e67a372
17:78084624 GAA C>A	17	78084624	78084624	C	A	GAA	c.1536C>A	NM_001079803.2	NP_001073271.1:p.(Phe512Leu)	NC_000017.10:g.78084624C>A	(Likely) benign	1 lab	679752e98e
5:60194162 ERCC8 T>C	5	60194162	60194162	T	C	ERCC8				NC_000005.9:g.60194162T>C	VUS	1 lab	67986614f7
11:2683332 KCNQ1 G>A	11	2683332	2683332	G	A	KCNQ1	c.1514+21G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2683332G>A	(Likely) benign	1 lab	679868ed36
1:247597587 NLRP3 C>A	1	247597587	247597587	C	A	NLRP3	c.2492+12C>A	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247597587C>A	(Likely) benign	1 lab	09d300847a
10:104590739 CYP17A1 C>T	10	104590739	104590739	C	T	CYP17A1	c.1247G>A	NM_000102.4	NP_000093.1:p.(Arg416His)	NC_000010.10:g.104590739C>T	(Likely) pathogenic	1 lab	679f13dbd6
6:76624539 MYO6 A>G	6	76624539	76624539	A	G	MYO6	c.3668A>G	NM_004999.3	NP_004990.3:p.(Asp1223Gly)	NC_000006.11:g.76624539A>G	VUS	1 lab	67a33a90ba
16:30103160 TBX6 C>A	16	30103160	30103160	C	A	TBX6	c.-49+34G>T	NM_004608.4	NP_004599.2:p.?	NC_000016.9:g.30103160C>A	(Likely) pathogenic	1 lab	67a461c0e3
1:45806998 TOE1 G>C	1	45806998	45806998	G	C	TOE1	c.219G>C	NM_025077.3	NP_079353.3:p.(Arg73Ser)	NC_000001.10:g.45806998G>C	(Likely) pathogenic	1 lab	67a8b4e41c
11:108173625 ATM C>A	11	108173625	108173625	C	A	ATM	c.5365C>A	NM_000051.4	NP_000042.3:p.(Leu1789Met)	NC_000011.9:g.108173625C>A	VUS	1 lab	67aaeb7793
4:3526645 LRPAP1 C>T	4	3526645	3526645	C	T	LRPAP1				NC_000004.11:g.3526645C>T	(Likely) benign	1 lab	67abc10b94
12:115115398 TBX3 G>A	12	115115398	115115398	G	A	TBX3	c.928C>T	NM_016569.3	NP_057653.3:p.(Arg310Ter)	NC_000012.11:g.115115398G>A	(Likely) pathogenic	1 lab	67af325dfc
19:38973985 RYR1 C>T	19	38973985	38973985	C	T	RYR1	c.4763C>T	NM_000540.2	NP_000531.2:p.(Pro1588Leu)	NC_000019.9:g.38973985C>T	VUS	1 lab	67b03d593e
16:67655380 CTCF C>T	16	67655380	67655380	C	T	CTCF				NC_000016.9:g.67655380C>T	(Likely) benign	1 lab	67b0a9fe83
6:129371099 LAMA2 C>T	6	129371099	129371099	C	T	LAMA2	c.149C>T	NM_000426.3	NP_000417.2:p.(Ala50Val)	NC_000006.11:g.129371099C>T	VUS	1 lab	67b7654e8c
12:91450082 KERA C>A	12	91450082	91450082	C	A	KERA	c.-8-16G>T	NM_007035.3	NP_008966.1:p.?	NC_000012.11:g.91450082C>A	(Likely) benign	1 lab	67b917894a
2:121708913 GLI2 G>A	2	121708913	121708913	G	A	GLI2	c.349G>A	NM_005270.4	NP_005261.2:p.(Ala117Thr)	NC_000002.11:g.121708913G>A	(Likely) pathogenic	1 lab	67ba845229
19:1000566 MISSING C>T	19	1000566	1000566	C	T	MISSING				NC_000019.9:g.1000566C>T	VUS	1 lab	67bb285447
11:123509014 SCN3B GAGGTGAAGTC>TATCTCTTT	11	123509014	123509024	GAGGTGAAGTC	TATCTCTTT	SCN3B	c.454_464delinsAAAGAGATA	NM_018400.4	NP_060870.1:p.(Asp152LysfsTer45)	NC_000011.9:g.123509014_123509024delinsTATCTCTTT	VUS	1 lab	67bd47e4de
5:149737221 TCOF1 T>G	5	149737221	149737221	T	G	TCOF1	c.-89T>G	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149737221T>G	(Likely) benign	1 lab	67c19d6aba
6:161173946 PLG T>G	6	161173946	161173946	T	G	PLG	c.2286T>G	NM_000301.5	NP_000292.1:p.(Gly762=)	NC_000006.11:g.161173946T>G	(Likely) benign	1 lab	67c1c5097c
7:107423254 SLC26A3 C>T	7	107423254	107423254	C	T	SLC26A3	c.1299G>A	NM_000111.2	NP_000102.1:p.(Ala433=)	NC_000007.13:g.107423254C>T	(Likely) benign	1 lab	67c37015c1
6:107088232 QRSL1 G>A	6	107088232	107088232	G	A	QRSL1	c.33G>A	NM_018292.5	NP_060762.3:p.(Ala11=)	NC_000006.11:g.107088232G>A	(Likely) benign	1 lab	67c5dc72be
9:139324735 INPP5E C>T	9	139324735	139324735	C	T	INPP5E	c.1796G>A	NM_019892.4	NP_063945.2:p.(Arg599Gln)	NC_000009.11:g.139324735C>T	VUS	1 lab	67c649ccd7
5:90021333 ADGRV1 C>T	5	90021333	90021333	C	T	ADGRV1	c.10054-33C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90021333C>T	(Likely) benign	1 lab	09d4242931
12:80936082 PTPRQ C>T	12	80936082	80936082	C	T	PTPRQ	c.3660C>T	NM_001145026.2	NP_001138498.1:p.(Ala1220=)	NC_000012.11:g.80936082C>T	(Likely) benign	1 lab	006d4112bb
12:121174883 ACADS TGGA>T	12	121174883	121174890	TGGA	T	ACADS	c.310_312del	NM_000017.4	NP_000008.1:p.(Glu104del)	NC_000012.11:g.121174888_121174890del	(Likely) pathogenic	1 lab	00735e83d9
17:33445673 RAD51D T>A	17	33445673	33445673	T	A	RAD51D	c.145-35A>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445673T>A	(Likely) benign	1 lab	67cf3e8492
1:2337277 PEX10 C>T	1	2337277	2337277	C	T	PEX10	c.973-4G>A	NM_153818.2	NP_722540.1:p.?	NC_000001.10:g.2337277C>T	(Likely) benign	1 lab	0076aa0402
19:18171930 IL12RB1 A>C	19	18171930	18171930	A	C	IL12RB1	c.1791+2T>G	NM_005535.2	NP_005526.1:p.?	NC_000019.9:g.18171930A>C	(Likely) pathogenic	1 lab	67d6d46815
2:152541342 NEB CA>C	2	152541342	152541343	CA	C	NEB	c.2784del	NM_001271208.1	NP_001258137.1:p.(Asp929IlefsTer28)	NC_000002.11:g.152541343del	(Likely) pathogenic	1 lab	67d78119a6
5:127712484 FBN2 T>G	5	127712484	127712484	T	G	FBN2	c.1912A>C	NM_001999.4	NP_001990.2:p.(Ser638Arg)	NC_000005.9:g.127712484T>G	VUS	1 lab	67db9b5099
1:193218953 CDC73 G>A	1	193218953	193218953	G	A	CDC73	c.1511G>A	NM_024529.5	NP_078805.3:p.(Arg504His)	NC_000001.10:g.193218953G>A	VUS	1 lab	67dcffbd0f
20:62073793 KCNQ2 A>C	20	62073793	62073793	A	C	KCNQ2	c.782T>G	NM_172107.4	NP_742105.1:p.(Phe261Cys)	NC_000020.10:g.62073793A>C	(Likely) pathogenic	1 lab	09d4e6cb06
8:72129210 EYA1 G>A	8	72129210	72129210	G	A	EYA1	c.1189C>T	NM_000503.5	NP_000494.2:p.(Gln397Ter)	NC_000008.10:g.72129210G>A	(Likely) pathogenic	1 lab	67dda1d7bb
19:38968510 RYR1 G>A	19	38968510	38968510	G	A	RYR1	c.4454G>A	NM_000540.2	NP_000531.2:p.(Ser1485Asn)	NC_000019.9:g.38968510G>A	VUS	1 lab	67de4624e7
2:112761483 MERTK G>A	2	112761483	112761483	G	A	MERTK	c.1789G>A	NM_006343.2	NP_006334.2:p.(Glu597Lys)	NC_000002.11:g.112761483G>A	VUS	1 lab	67e4dd4860
19:51189556 SHANK1 G>A	19	51189556	51189556	G	A	SHANK1	c.2515C>T	NM_016148.5	NP_057232.2:p.(Pro839Ser)	NC_000019.9:g.51189556G>A	VUS	1 lab	00777bd097
X:73749225 SLC16A2 T>C	X	73749225	73749225	T	C	SLC16A2	c.1348T>C	NM_006517.5	NP_006508.2:p.(Tyr450His)	NC_000023.10:g.73749225T>C	VUS	1 lab	007825fecd
7:128480791 FLNC CTGGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT>C	7	128480791	128480839	CTGGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT	C	FLNC	c.1676+78_1677-49del	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128480806_128480839del	(Likely) benign	1 lab	67e8d30652
8:61757622 CHD7 G>A	8	61757622	61757622	G	A	CHD7				NC_000008.10:g.61757622G>A	(Likely) pathogenic	1 lab	67e8ff0ae8
16:23637771 PALB2 C>T	16	23637771	23637771	C	T	PALB2	c.2587-53G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23637771C>T	(Likely) benign	1 lab	67ef15b1f1
2:167327177 SCN7A C>T	2	167327177	167327177	C	T	SCN7A	c.612G>A	NM_002976.3	NP_002967.2:p.(Thr204=)	NC_000002.11:g.167327177C>T	(Likely) benign	1 lab	67f065120a
1:216246251 USH2A C>T	1	216246251	216246251	C	T	USH2A	c.5837G>A	NM_206933.2	NP_996816.2:p.(Arg1946Gln)	NC_000001.10:g.216246251C>T	VUS	1 lab	67f4916d95
3:46904879 MYL3 A>T	3	46904879	46904879	A	T	MYL3	c.2T>A	NM_000258.2	NP_000249.1:p.(Met1?)	NC_000003.11:g.46904879A>T	VUS	1 lab	67f4c38255
10:94392286 KIF11 TC>T	10	94392286	94392288	TC	T	KIF11	c.1540del	NM_004523.3	NP_004514.2:p.(His514IlefsTer25)	NC_000010.10:g.94392288del	(Likely) pathogenic	1 lab	67f5a284eb
16:30736000 SRCAP C>A	16	30736000	30736000	C	A	SRCAP	c.5255C>A	NM_006662.3	NP_006653.2:p.(Pro1752His)	NC_000016.9:g.30736000C>A	VUS	1 lab	00818d92c9
12:112926851 PTPN11 C>T	12	112926851	112926851	C	T	PTPN11	c.1471C>T	NM_002834.3	NP_002825.3:p.(Pro491Ser)	NC_000012.11:g.112926851C>T	(Likely) pathogenic	1 lab	67fbb1b5b5
17:33428375 RAD51D G>A	17	33428375	33428375	G	A	RAD51D	c.748C>T	NM_002878.3	NP_002869.3:p.(His250Tyr)	NC_000017.10:g.33428375G>A	VUS	1 lab	67fc5fe3b2
11:76853829 MYO7A C>A	11	76853829	76853829	C	A	MYO7A				NC_000011.9:g.76853829C>A	(Likely) pathogenic	1 lab	67fd82622a
13:115090233 CHAMP1 G>C	13	115090233	115090233	G	C	CHAMP1	c.916G>C	NM_032436.4	NP_115812.1:p.(Ala306Pro)	NC_000013.10:g.115090233G>C	(Likely) benign	1 lab	6800523a5a
18:19348658 MIB1 G>A	18	19348658	19348658	G	A	MIB1	c.476G>A	NM_020774.2	NP_065825.1:p.(Arg159Gln)	NC_000018.9:g.19348658G>A	VUS	1 lab	68016e19e7
16:23360004 SCNN1B G>A	16	23360004	23360004	G	A	SCNN1B	c.84G>A	NM_000336.2	NP_000327.2:p.(Trp28Ter)	NC_000016.9:g.23360004G>A	(Likely) pathogenic	1 lab	6803617090
8:42958827 POMK C>T	8	42958827	42958827	C	T	POMK	c.136C>T	NM_032237.5	NP_115613.1:p.(Arg46Ter)	NC_000008.10:g.42958827C>T	(Likely) pathogenic	1 lab	0081e1e582
3:179131582 GNB4 G>A	3	179131582	179131582	G	A	GNB4	c.431-13C>T	NM_021629.4	NP_067642.1:p.?	NC_000003.11:g.179131582G>A	(Likely) benign	1 lab	09d554aadc
22:21351040 LZTR1 T>C	22	21351040	21351040	T	C	LZTR1	c.2275T>C	NM_006767.3	NP_006758.2:p.(Tyr759His)	NC_000022.10:g.21351040T>C	VUS	1 lab	68053e7a50
1:22150120 LDLRAD2 C>T	1	22150120	22150120	C	T	LDLRAD2	c.*1412C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150120C>T	(Likely) benign	1 lab	008292dde7
5:161322616 GABRA1 T>A	5	161322616	161322616	T	A	GABRA1	c.857-56T>A	NM_000806.5	NP_000797.2:p.?	NC_000005.9:g.161322616T>A	(Likely) benign	1 lab	09d9e107f9
2:220361785 SPEGNB A>G	2	220361785	220361785	A	G	SPEGNB	c.383A>G	NM_001286811.1	NP_001273740.1:p.(Asn128Ser)	NC_000002.11:g.220361785A>G	(Likely) benign	1 lab	09daca737d
17:18907093 SACK1G GAG>CTC	17	18907093	18907095	GAG	CTC	SACK1G	c.260_262inv	NM_001039999.3	NP_001035088.2:p.(Ser87Ter)	NC_000017.10:g.18907093_18907095inv	(Likely) pathogenic	1 lab	680e4d198a
1:155263106 PKLR T>C	1	155263106	155263106	T	C	PKLR	c.1298A>G	NM_000298.6	NP_000289.1:p.(Tyr433Cys)	NC_000001.10:g.155263106T>C	VUS	1 lab	09e14b9e5e
3:48612651 COL7A1 G>A	3	48612651	48612651	G	A	COL7A1	c.6205C>T	NM_000094.3	NP_000085.1:p.(Arg2069Cys)	NC_000003.11:g.48612651G>A	(Likely) pathogenic	1 lab	6813504383
6:49425503 MMUT T>G	6	49425503	49425503	T	G	MMUT	c.654A>C	NM_000255.3	NP_000246.2:p.(Gln218His)	NC_000006.11:g.49425503T>G	(Likely) pathogenic	1 lab	6815724427
10:88213051 MISSING C>CTATGA	10	88213051	88213056	C	CTATGA	MISSING				NC_000010.10:g.88213052_88213056dup	VUS	1 lab	681823d51b
4:77700014 SHROOM3 G>A	4	77700014	77700014	G	A	SHROOM3	c.5675G>A	NM_020859.3	NP_065910.3:p.(Arg1892Gln)	NC_000004.11:g.77700014G>A	(Likely) benign	1 lab	6818940e6b
1:7737799 CAMTA1 A>G	1	7737799	7737799	A	G	CAMTA1	c.2914+6A>G	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7737799A>G	(Likely) benign	1 lab	00829892db
12:6078551 VWF A>G	12	6078551	6078551	A	G	VWF	c.7555T>C	NM_000552.3	NP_000543.2:p.(Ser2519Pro)	NC_000012.11:g.6078551A>G	VUS	1 lab	681c612c15
11:59415373 PATL1 G>C	11	59415373	59415373	G	C	PATL1	c.1747C>G	NM_152716.3	NP_689929.2:p.(His583Asp)	NC_000011.9:g.59415373G>C	VUS	1 lab	008658232d
19:48185412 BICRA A>G	19	48185412	48185412	A	G	BICRA	c.2283+3A>G	NM_001394372.1	NP_001381301.1:p.?	NC_000019.9:g.48185412A>G	VUS	1 lab	681e6100cc
17:11998934 MAP2K4 C>T	17	11998934	11998934	C	T	MAP2K4	c.436C>T	NM_003010.3	NP_003001.1:p.(Leu146Phe)	NC_000017.10:g.11998934C>T	VUS	1 lab	681f1d7194
11:47357170 MYBPC3 G>A	11	47357170	47357170	G	A	MYBPC3	c.2737+258C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47357170G>A	(Likely) benign	1 lab	681feedb49
14:21795863 RPGRIP1 C>CGGTA	14	21795863	21795864	C	CGGTA	RPGRIP1	c.2792_2793insGGTA	NM_020366.3	NP_065099.3:p.(Pro932ValfsTer3)	NC_000014.8:g.21795863_21795864insGGTA	(Likely) pathogenic	1 lab	68201ab73d
14:61115540 SIX1 T>C	14	61115540	61115540	T	C	SIX1	c.368A>G	NM_005982.4	NP_005973.1:p.(Asp123Gly)	NC_000014.8:g.61115540T>C	(Likely) pathogenic	1 lab	68211742ae
1:237949299 RYR2 G>A	1	237949299	237949299	G	A	RYR2	c.13291G>A	NM_001035.3	NP_001026.2:p.(Glu4431Lys)	NC_000001.10:g.237949299G>A	VUS	1 lab	00874eed0f
16:89341266 ANKRD11 T>A	16	89341266	89341266	T	A	ANKRD11				NC_000016.9:g.89341266T>A	VUS	1 lab	6823403430
17:41245652 BRCA1 G>A	17	41245652	41245652	G	A	BRCA1	c.1896C>T	NM_007294.4	NP_009225.1:p.(Ser632=)	NC_000017.10:g.41245652G>A	(Likely) benign	1 lab	6823a84086
17:61781408 STRADA C>G	17	61781408	61781408	C	G	STRADA	c.1101-1G>C	NM_001003787.2	NP_001003787.1:p.?	NC_000017.10:g.61781408C>G	(Likely) pathogenic	1 lab	68243afc12
18:19358116 MIB1 A>G	18	19358116	19358116	A	G	MIB1	c.689A>G	NM_020774.3	NP_065825.1:p.(His230Arg)	NC_000018.9:g.19358116A>G	(Likely) benign	1 lab	68257faa6c
8:24813231 NEFL TCTCGTA>T	8	24813231	24813239	TCTCGTA	T	NEFL	c.793_798del	NM_006158.4	NP_006149.2:p.(Tyr265_Glu266del)	NC_000008.10:g.24813234_24813239del	VUS	1 lab	6825c733b6
7:74191612 NCF1 GGT>G	7	74191612	74191616	GGT	G	NCF1	c.75_76del	NM_000265.6	NP_000256.4:p.(Tyr26HisfsTer26)	NC_000007.13:g.74191615_74191616del	(Likely) pathogenic	1 lab	008b7ddd39
21:47532390 COL6A2 G>A	21	47532390	47532390	G	A	COL6A2	c.613G>A	NM_001849.4	NP_001840.3:p.(Ala205Thr)	NC_000021.8:g.47532390G>A	VUS	1 lab	6826fea2c0
9:129377802 LMX1B T>C	9	129377802	129377802	T	C	LMX1B				NC_000009.11:g.129377802T>C	(Likely) pathogenic	1 lab	68283687f5
X:76938727 ATRX G>A	X	76938727	76938727	G	A	ATRX	c.2021C>T	NM_000489.4	NP_000480.3:p.(Thr674Ile)	NC_000023.10:g.76938727G>A	(Likely) benign	1 lab	682a8b4ccc
X:32381014 DMD G>T	X	32381014	32381014	G	T	DMD	c.5216C>A	NM_004006.2	NP_003997.1:p.(Ala1739Glu)	NC_000023.10:g.32381014G>T	(Likely) benign	1 lab	682b6b9884
19:38931482 RYR1 T>C	19	38931482	38931482	T	C	RYR1	c.143T>C	NM_000540.2	NP_000531.2:p.(Leu48Pro)	NC_000019.9:g.38931482T>C	VUS	1 lab	682d354401
2:216269095 FN1 C>T	2	216269095	216269095	C	T	FN1	c.3253+17G>A	NM_212482.1	NP_997647.1:p.?	NC_000002.11:g.216269095C>T	(Likely) benign	1 lab	682e256370
10:112771421 SHOC2 A>G	10	112771421	112771421	A	G	SHOC2	c.1594A>G	NM_007373.3	NP_031399.2:p.(Ser532Gly)	NC_000010.10:g.112771421A>G	(Likely) benign	1 lab	683810e97e
10:18439810 CACNB2 A>T	10	18439810	18439810	A	T	CACNB2				NC_000010.10:g.18439810A>T	VUS	1 lab	683920f3f3
11:103006307 DYNC2H1 G>A	11	103006307	103006307	G	A	DYNC2H1	c.2289G>A	NM_001377.3	NP_001368.2:p.(Met763Ile)	NC_000011.9:g.103006307G>A	VUS	1 lab	6839363d0c
11:124967611 TMEM218 C>T	11	124967611	124967611	C	T	TMEM218	c.344G>A	NM_001258243.1	NP_001245172.1:p.(Arg115His)	NC_000011.9:g.124967611C>T	VUS	1 lab	683a565d50
5:45645619 HCN1 T>G	5	45645619	45645619	T	G	HCN1	c.517A>C	NM_021072.3	NP_066550.2:p.(Thr173Pro)	NC_000005.9:g.45645619T>G	VUS	1 lab	683b24c972
5:74009410 HEXB G>A	5	74009410	74009410	G	A	HEXB	c.851G>A	NM_000521.3	NP_000512.1:p.(Arg284Gln)	NC_000005.9:g.74009410G>A	VUS	1 lab	683b55116c
6:152647182 SYNE1 T>C	6	152647182	152647182	T	C	SYNE1	c.15349A>G	NM_182961.4	NP_892006.3:p.(Met5117Val)	NC_000006.11:g.152647182T>C	(Likely) benign	1 lab	683be45ad1
9:86586606 HNRNPK C>T	9	86586606	86586606	C	T	HNRNPK	c.989G>A	NM_002140.3	NP_002131.2:p.(Gly330Glu)	NC_000009.11:g.86586606C>T	(Likely) pathogenic	1 lab	683e020340
15:85191139 WDR73 G>A	15	85191139	85191139	G	A	WDR73	c.334C>T	NM_032856.5	NP_116245.2:p.(Gln112Ter)	NC_000015.9:g.85191139G>A	(Likely) pathogenic	1 lab	6842d92546
2:179612591 TTN G>T	2	179612591	179612591	G	T	TTN	c.14536C>A	NM_133379.4	NP_596870.2:p.(Gln4846Lys)	NC_000002.11:g.179612591G>T	VUS	1 lab	6842ebd1a7
18:42531917 SETBP1 T>C	18	42531917	42531917	T	C	SETBP1	c.2612T>C	NM_015559.2	NP_056374.2:p.(Ile871Thr)	NC_000018.9:g.42531917T>C	(Likely) pathogenic	1 lab	68436a2334
X:53407026 SMC1A A>G	X	53407026	53407026	A	G	SMC1A	c.3700T>C	NM_006306.2	NP_006297.2:p.(Ter1234GlnextTer44)	NC_000023.10:g.53407026A>G	VUS	1 lab	68443973de
2:227919328 COL4A4 C>A	2	227919328	227919328	C	A	COL4A4	c.2842G>T	NM_000092.5	NP_000083.3:p.(Gly948Ter)	NC_000002.11:g.227919328C>A	(Likely) pathogenic	1 lab	6847328145
19:50805015 MYH14 G>A	19	50805015	50805015	G	A	MYH14	c.5567G>A	NM_001145809.2	NP_001139281.1:p.(Arg1856Gln)	NC_000019.9:g.50805015G>A	VUS	1 lab	684aa5c6d7
14:23852537 MYH6 T>G	14	23852537	23852537	T	G	MYH6	c.5566-8A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852537T>G	(Likely) benign	1 lab	684dd12b84
1:26135245 SELENON A>C	1	26135245	26135245	A	C	SELENON	c.712A>C	NM_020451.3	NP_065184.2:p.(Asn238His)	NC_000001.10:g.26135245A>C	VUS	1 lab	6850b0e174
3:130712782 ATP2C1 C>T	3	130712782	130712782	C	T	ATP2C1	c.1897C>T	NM_001378687.1	NP_001365616.1:p.(Gln633Ter)	NC_000003.11:g.130712782C>T	(Likely) pathogenic	1 lab	685419936b
2:216234988 FN1 C>T	2	216234988	216234988	C	T	FN1	c.6853+29G>A	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216234988C>T	(Likely) benign	1 lab	09e819737a
2:166909357 SCN1A C>G	2	166909357	166909357	C	G	SCN1A				NC_000002.11:g.166909357C>G	(Likely) pathogenic	1 lab	7ce94b95d3
6:85447049 TBX18 G>A	6	85447049	85447049	G	A	TBX18	c.1178C>T	NM_001080508.3	NP_001073977.1:p.(Ser393Phe)	NC_000006.11:g.85447049G>A	VUS	1 lab	685590a963
3:169482513 TERC CCCCGAGAGACCCG>CCCCGAGAGACCCG	3	169482513	169482526	CCCCGAGAGACCCG	CCCCGAGAGACCCG	TERC				NC_000003.11:g.169482513_169482526=	(Likely) pathogenic	1 lab	6857772321
5:36955642 NIPBL C>T	5	36955642	36955642	C	T	NIPBL	c.133C>T	NM_133433.4	NP_597677.2:p.(Arg45Ter)	NC_000005.9:g.36955642C>T	(Likely) pathogenic	1 lab	685952b525
11:47360240 MYBPC3 T>G	11	47360240	47360240	T	G	MYBPC3	c.2149-10A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47360240T>G	(Likely) benign	1 lab	685b63593d
21:47408790 COL6A1 G>C	21	47408790	47408790	G	C	COL6A1	c.805-208G>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47408790G>C	(Likely) benign	1 lab	825e35bb66
19:50771472 MYH14 T>C	19	50771472	50771472	T	C	MYH14	c.2881T>C	NM_001145809.1	NP_001139281.1:p.(Cys961Arg)	NC_000019.9:g.50771472T>C	VUS	1 lab	685df2b958
14:100705722 YY1 G>C	14	100705722	100705722	G	C	YY1	c.141G>C	NM_003403.3	NP_003394.1:p.(Glu47Asp)	NC_000014.8:g.100705722G>C	(Likely) benign	1 lab	685ede0d38
11:58956246 DTX4 G>A	11	58956246	58956246	G	A	DTX4	c.974G>A	NM_015177.1	NP_055992.1:p.(Ser325Asn)	NC_000011.9:g.58956246G>A	VUS	1 lab	68629a3046
13:38357146 TRPC4 C>T	13	38357146	38357146	C	T	TRPC4	c.325G>A	NM_016179.4	NP_057263.1:p.(Val109Ile)	NC_000013.10:g.38357146C>T	VUS	1 lab	008fb54515
10:131671802 EBF3 ATGT>A	10	131671802	131671808	ATGT	A	EBF3	c.692_694del	NM_001005463.2	NP_001005463.1:p.(Asn231del)	NC_000010.10:g.131671806_131671808del	(Likely) pathogenic	1 lab	686a41c466
3:38593008 SCN5A G>C	3	38593008	38593008	G	C	SCN5A	c.4852C>G	NM_000335.5	NP_000326.2:p.(Pro1618Ala)	NC_000003.11:g.38593008G>C	VUS	1 lab	686b9584e8
1:197325995 CRB1 T>A	1	197325995	197325995	T	A	CRB1	c.1023T>A	NM_201253.2	NP_957705.1:p.(Asn341Lys)	NC_000001.10:g.197325995T>A	VUS	1 lab	686c76fa6d
1:237666573 RYR2 C>T	1	237666573	237666573	C	T	RYR2	c.2397-16C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237666573C>T	(Likely) benign	1 lab	09ecb62ce2
3:11067563 SLC6A1 G>C	3	11067563	11067563	G	C	SLC6A1	c.953+1G>C	NM_003042.4	NP_003033.3:p.?	NC_000003.11:g.11067563G>C	(Likely) pathogenic	1 lab	6872d5546b
X:18622138 CDKL5 G>A	X	18622138	18622138	G	A	CDKL5	c.1094G>A	NM_003159.2	NP_003150.1:p.(Ser365Asn)	NC_000023.10:g.18622138G>A	(Likely) benign	1 lab	6876c9ea11
12:6167192 VWF C>A	12	6167192	6167192	C	A	VWF	c.1552G>T	NM_000552.3	NP_000543.2:p.(Gly518Trp)	NC_000012.11:g.6167192C>A	VUS	1 lab	687836c61d
21:43805594 TMPRSS3 G>A	21	43805594	43805594	G	A	TMPRSS3	c.496C>T	NM_024022.2	NP_076927.1:p.(Arg166Trp)	NC_000021.8:g.43805594G>A	VUS	1 lab	6879155199
12:33049528 PKP2 G>A	12	33049528	33049528	G	A	PKP2	c.138C>T	NM_004572.3	NP_004563.2:p.(Arg46=)	NC_000012.11:g.33049528G>A	(Likely) benign	1 lab	687a555756
1:228430947 OBSCN C>G	1	228430947	228430947	C	G	OBSCN	c.3269C>G	NM_001271223.2	NP_001258152.2:p.(Ala1090Gly)	NC_000001.10:g.228430947C>G	(Likely) benign	1 lab	687c2c5547
4:39512375 UGDH T>C	4	39512375	39512375	T	C	UGDH	c.371A>G	NM_003359.4	NP_003350.1:p.(Lys124Arg)	NC_000004.11:g.39512375T>C	VUS	1 lab	687e337a26
14:31598375 HECTD1 G>A	14	31598375	31598375	G	A	HECTD1	c.4202C>T	NM_015382.4	NP_056197.3:p.(Ser1401Leu)	NC_000014.8:g.31598375G>A	VUS	1 lab	0092579b92
1:230823816 COG2 G>C	1	230823816	230823816	G	C	COG2	c.1579-1G>C	NM_007357.3	NP_031383.1:p.?	NC_000001.10:g.230823816G>C	VUS	1 lab	0092bfb35a
14:88411952 GALC T>C	14	88411952	88411952	T	C	GALC	c.1615A>G	NM_000153.4	NP_000144.2:p.(Ile539Val)	NC_000014.8:g.88411952T>C	VUS	1 lab	688141a45d
17:8139327 CTC1 A>G	17	8139327	8139327	A	G	CTC1	c.1077+49T>C	NM_025099.5	NP_079375.3:p.?	NC_000017.10:g.8139327A>G	(Likely) benign	1 lab	6d28ba81a8
14:102466375 DYNC1H1 G>T	14	102466375	102466375	G	T	DYNC1H1	c.3854G>T	NM_001376.4	NP_001367.2:p.(Gly1285Val)	NC_000014.8:g.102466375G>T	(Likely) benign	1 lab	6881d4186e
10:101487264 COX15 G>A	10	101487264	101487264	G	A	COX15	c.329C>T	NM_078470.5	NP_510870.1:p.(Pro110Leu)	NC_000010.10:g.101487264G>A	VUS	1 lab	688264b214
6:76572383 MYO6 T>G	6	76572383	76572383	T	G	MYO6	c.1617T>G	NM_004999.3	NP_004990.3:p.(Ser539Arg)	NC_000006.11:g.76572383T>G	VUS	1 lab	68892510d7
16:83945803 MLYCD C>T	16	83945803	83945803	C	T	MLYCD	c.799-20C>T	NM_012213.2	NP_036345.2:p.?	NC_000016.9:g.83945803C>T	(Likely) benign	1 lab	688bceedd7
19:50919693 POLD1 C>T	19	50919693	50919693	C	T	POLD1	c.2939C>T	NM_001308632.1	NP_001295561.1:p.(Thr980Met)	NC_000019.9:g.50919693C>T	VUS	1 lab	00939bc946
12:49424406 KMT2D T>C	12	49424406	49424406	T	C	KMT2D	c.13817A>G	NM_003482.4	NP_003473.3:p.(Tyr4606Cys)	NC_000012.11:g.49424406T>C	VUS	1 lab	0093fa5067
12:2602378 CACNA1C T>C	12	2602378	2602378	T	C	CACNA1C	c.939T>C	NM_199460.3	NP_955630.3:p.(Pro313=)	NC_000012.11:g.2602378T>C	(Likely) benign	1 lab	688e8d4780
3:38798292 SCN10A A>G	3	38798292	38798292	A	G	SCN10A	c.1163T>C	NM_006514.4	NP_006505.4:p.(Leu388Pro)	NC_000003.11:g.38798292A>G	VUS	1 lab	688ecfe996
X:110406970 PAK3 C>A	X	110406970	110406970	C	A	PAK3	c.766+15C>A	NM_002578.5	NP_002569.1:p.?	NC_000023.10:g.110406970C>A	(Likely) benign	1 lab	09f2793936
2:100623869 AFF3 A>T	2	100623869	100623869	A	T	AFF3	c.228T>A	NM_001386135.1	NP_001373064.1:p.(Tyr76Ter)	NC_000002.11:g.100623869A>T	(Likely) pathogenic	1 lab	689092824e
9:32466361 RIGI A>G	9	32466361	32466361	A	G	RIGI	c.2264T>C	NM_014314.4	NP_055129.2:p.(Met755Thr)	NC_000009.11:g.32466361A>G	(Likely) benign	1 lab	00941ff2ab
X:85219056 CHM G>A	X	85219056	85219056	G	A	CHM	c.316C>T	NM_000390.2	NP_000381.1:p.(Gln106Ter)	NC_000023.10:g.85219056G>A	(Likely) pathogenic	1 lab	6895d74bb0
12:80750699 OTOGL G>C	12	80750699	80750699	G	C	OTOGL				NC_000012.11:g.80750699G>C	(Likely) pathogenic	1 lab	6896160e1c
3:11078554 SLC6A1 C>T	3	11078554	11078554	C	T	SLC6A1	c.1702C>T	NM_003042.4	NP_003033.3:p.(Gln568Ter)	NC_000003.11:g.11078554C>T	(Likely) pathogenic	1 lab	6896d7c0d0
2:160189182 BAZ2B G>A	2	160189182	160189182	G	A	BAZ2B	c.5812C>T	NM_013450.4	NP_038478.2:p.(Arg1938Ter)	NC_000002.11:g.160189182G>A	(Likely) pathogenic	1 lab	6898e29551
11:17627487 OTOG A>G	11	17627487	17627487	A	G	OTOG	c.3997A>G	NM_001277269.1	NP_001264198.1:p.(Lys1333Glu)	NC_000011.9:g.17627487A>G	VUS	1 lab	689945199a
8:30946403 WRN C>A	8	30946403	30946403	C	A	WRN	c.1577-3C>A	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.30946403C>A	(Likely) benign	1 lab	68a42169ba
17:39912026 JUP C>T	17	39912026	39912026	C	T	JUP	c.2208G>A	NM_002230.4	NP_002221.1:p.(Pro736=)	NC_000017.10:g.39912026C>T	(Likely) benign	1 lab	0098013a05
4:114120235 ANK2 G>C	4	114120235	114120235	G	C	ANK2	c.354G>C	NM_001148.5	NP_001139.3:p.(Lys118Asn)	NC_000004.11:g.114120235G>C	VUS	1 lab	68ae043137
5:37051991 NIPBL A>T	5	37051991	37051991	A	T	NIPBL	c.7062+3A>T	NM_133433.3	NP_597677.2:p.?	NC_000005.9:g.37051991A>T	(Likely) pathogenic	1 lab	68ae3ada9c
13:101721190 NALCN T>C	13	101721190	101721190	T	C	NALCN	c.4198-11A>G	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101721190T>C	VUS	1 lab	68ae5f2de6
3:186395180 HRG T>C	3	186395180	186395180	T	C	HRG	c.1086=	NM_000412.5	NP_000403.1:p.(His362=)	NC_000003.11:g.186395180T>C	(Likely) benign	1 lab	0098e2c34a
1:215847683 USH2A T>C	1	215847683	215847683	T	C	USH2A	c.13570A>G	NM_206933.4	NP_996816.3:p.(Lys4524Glu)	NC_000001.10:g.215847683T>C	VUS	1 lab	68af826e44
8:11612647 GATA4 G>A	8	11612647	11612647	G	A	GATA4	c.997+5G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11612647G>A	(Likely) benign	1 lab	68b4d0bba4
17:18041483 MYO15A C>T	17	18041483	18041483	C	T	MYO15A	c.4930C>T	NM_016239.3	NP_057323.3:p.(Gln1644Ter)	NC_000017.10:g.18041483C>T	(Likely) pathogenic	1 lab	68b9c1c828
6:35467862 TULP1 T>C	6	35467862	35467862	T	C	TULP1	c.1391A>G	NM_003322.4	NP_003313.3:p.(Lys464Arg)	NC_000006.11:g.35467862T>C	VUS	1 lab	68b9c9853e
5:149504398 PDGFRB G>T	5	149504398	149504398	G	T	PDGFRB	c.1808-4C>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149504398G>T	(Likely) benign	1 lab	009decf8d6
19:1220357 STK11 G>T	19	1220357	1220357	G	T	STK11	c.465-15G>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220357G>T	(Likely) benign	1 lab	68bb97bee3
13:32954022 BRCA2 CA>C	13	32954022	32954030	CA	C	BRCA2	c.9097del	NM_000059.4	NP_000050.3:p.(Thr3033LeufsTer29)	NC_000013.10:g.32954030del	(Likely) pathogenic	1 lab	009e0af2b6
10:69933941 MYPN A>G	10	69933941	69933941	A	G	MYPN	c.2092A>G	NM_032578.3	NP_115967.2:p.(Asn698Asp)	NC_000010.10:g.69933941A>G	(Likely) benign	1 lab	68bfaddf65
20:62326911 RTEL1 T>C	20	62326911	62326911	T	C	RTEL1	c.3730T>C	NM_001283009.2	NP_001269938.1:p.(Cys1244Arg)	NC_000020.10:g.62326911T>C	(Likely) pathogenic	1 lab	68c0203afa
6:42672275 PRPH2 G>C	6	42672275	42672275	G	C	PRPH2				NC_000006.11:g.42672275G>C	VUS	1 lab	68c0a2b0c7
22:42610927 TCF20 G>A	22	42610927	42610927	G	A	TCF20	c.385C>T	NM_005650.1	NP_005641.1:p.(Gln129Ter)	NC_000022.10:g.42610927G>A	(Likely) pathogenic	1 lab	68c29c7e85
2:189915374 COL5A2 C>G	2	189915374	189915374	C	G	COL5A2	c.2960G>C	NM_000393.5	NP_000384.2:p.(Gly987Ala)	NC_000002.11:g.189915374C>G	VUS	1 lab	68c32957bb
5:112116601 APC G>A	5	112116601	112116601	G	A	APC	c.645+1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112116601G>A	(Likely) pathogenic	1 lab	68c4d00f5b
7:150648873 KCNH2 C>T	7	150648873	150648873	C	T	KCNH2	c.1608G>A	NM_000238.3	NP_000229.1:p.(Ala536=)	NC_000007.13:g.150648873C>T	(Likely) benign	1 lab	68cb8c6f2f
4:158043559 GLRB C>T	4	158043559	158043559	C	T	GLRB	c.297+10C>T	NM_000824.5	NP_000815.1:p.?	NC_000004.11:g.158043559C>T	(Likely) benign	1 lab	009f2c6959
16:3779838 CREBBP C>T	16	3779838	3779838	C	T	CREBBP	c.5210G>A	NM_004380.2	NP_004371.2:p.(Ser1737Asn)	NC_000016.9:g.3779838C>T	(Likely) pathogenic	1 lab	68cc7c109b
7:140481405 BRAF A>G	7	140481405	140481405	A	G	BRAF	c.1403T>C	NM_004333.6	NP_004324.2:p.(Phe468Ser)	NC_000007.13:g.140481405A>G	(Likely) pathogenic	1 lab	68cd10139c
12:115118755 TBX3 G>A	12	115118755	115118755	G	A	TBX3	c.586C>T	NM_016569.3	NP_057653.3:p.(Gln196Ter)	NC_000012.11:g.115118755G>A	(Likely) pathogenic	1 lab	68ce0fd31a
14:31348043 COCH C>A	14	31348043	31348043	C	A	COCH	c.266C>A	NM_004086.2	NP_004077.1:p.(Pro89His)	NC_000014.8:g.31348043C>A	(Likely) benign	1 lab	68ce39b2ac
X:154133247 F8 T>G	X	154133247	154133247	T	G	F8	c.5425A>C	NM_000132.3	NP_000123.1:p.(Ile1809Leu)	NC_000023.10:g.154133247T>G	VUS	1 lab	68dcb5d9c7
7:23164771 KLHL7 T>C	7	23164771	23164771	T	C	KLHL7	c.422T>C	NM_001031710.3	NP_001026880.2:p.(Val141Ala)	NC_000007.13:g.23164771T>C	(Likely) pathogenic	1 lab	68e10d75f9
X:48374277 PORCN G>A	X	48374277	48374277	G	A	PORCN	c.1024-1G>A	NM_203475.3	NP_982301.1:p.?	NC_000023.10:g.48374277G>A	(Likely) pathogenic	1 lab	68e12f779e
12:111348974 MYL2 G>A	12	111348974	111348974	G	A	MYL2	c.408C>T	NM_000432.3	NP_000423.2:p.(Asp136=)	NC_000012.11:g.111348974G>A	(Likely) benign	1 lab	68e188f0c3
12:57976415 KIF5A A>G	12	57976415	57976415	A	G	KIF5A	c.3020+3A>G	NM_004984.3	NP_004975.2:p.?	NC_000012.11:g.57976415A>G	VUS	1 lab	68e1cc2c4b
2:45169581 SIX3 G>A	2	45169581	45169581	G	A	SIX3	c.338G>A	NM_005413.3	NP_005404.1:p.(Trp113Ter)	NC_000002.11:g.45169581G>A	(Likely) pathogenic	1 lab	68e1d5fcb1
6:10877601 GCM2 G>A	6	10877601	10877601	G	A	GCM2	c.115C>T	NM_004752.3	NP_004743.1:p.(Arg39Ter)	NC_000006.11:g.10877601G>A	(Likely) pathogenic	1 lab	68e44bc693
1:228522978 OBSCN G>A	1	228522978	228522978	G	A	OBSCN	c.16384G>A	NM_001098623.2	NP_001092093.2:p.(Ala5462Thr)	NC_000001.10:g.228522978G>A	VUS	1 lab	68e49b8cea
10:73464701 CDH23 G>A	10	73464701	73464701	G	A	CDH23	c.2767G>A	NM_022124.5	NP_071407.4:p.(Gly923Ser)	NC_000010.10:g.73464701G>A	VUS	1 lab	68e97f27c8
5:112174492 APC A>AT	5	112174492	112174493	A	AT	APC	c.3202dup	NM_000038.6	NP_000029.2:p.(Ser1068PhefsTer13)	NC_000005.9:g.112174493dup	(Likely) pathogenic	1 lab	68edf3e630
2:232952423 DIS3L2 C>T	2	232952423	232952423	C	T	DIS3L2	c.593C>T	NM_152383.4	NP_689596.4:p.(Ser198Phe)	NC_000002.11:g.232952423C>T	(Likely) benign	1 lab	68ef9d1d1b
19:7626396 PNPLA6 G>A	19	7626396	7626396	G	A	PNPLA6	c.3932G>A	NM_006702.4	NP_006693.3:p.(Arg1311Gln)	NC_000019.9:g.7626396G>A	VUS	1 lab	68efa61273
5:14665097 OTULIN G>GGGGGCGC	5	14665097	14665114	G	GGGGGCGC	OTULIN	c.152+22_152+28dup	NM_138348.6	NP_612357.4:p.?	NC_000005.9:g.14665108_14665114dup	(Likely) benign	1 lab	09f2ffd8a4
2:170136101 LRP2 A>T	2	170136101	170136101	A	T	LRP2	c.1346T>A	NM_004525.3	NP_004516.2:p.(Phe449Tyr)	NC_000002.11:g.170136101A>T	(Likely) benign	1 lab	00b022a733
1:16381956 CLCNKB C>T	1	16381956	16381956	C	T	CLCNKB	c.1783C>T	NM_000085.4	NP_000076.2:p.(Arg595Ter)	NC_000001.10:g.16381956C>T	(Likely) pathogenic	1 lab	68faee1bb6
17:18045504 MYO15A C>T	17	18045504	18045504	C	T	MYO15A	c.5761C>T	NM_016239.4	NP_057323.3:p.(Arg1921Ter)	NC_000017.10:g.18045504C>T	(Likely) pathogenic	1 lab	68fdee5ec0
11:17793235 KCNC1 C>G	11	17793235	17793235	C	G	KCNC1	c.594C>G	NM_001112741.1	NP_001106212.1:p.(Phe198Leu)	NC_000011.9:g.17793235C>G	(Likely) benign	1 lab	69010ba553
3:38601774 SCN5A T>C	3	38601774	38601774	T	C	SCN5A	c.4109A>G	NM_001099404.2	NP_001092874.1:p.(Asp1370Gly)	NC_000003.11:g.38601774T>C	(Likely) benign	1 lab	00b26f2485
17:41219774 BRCA1 A>G	17	41219774	41219774	A	G	BRCA1	c.4987-62T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219774A>G	(Likely) benign	1 lab	690e8041eb
1:205156577 DSTYK A>G	1	205156577	205156577	A	G	DSTYK	c.623T>C	NM_015375.2	NP_056190.1:p.(Leu208Pro)	NC_000001.10:g.205156577A>G	VUS	1 lab	690fb82947
7:6042074 PMS2 T>C	7	6042074	6042074	T	C	PMS2	c.537+10A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6042074T>C	VUS	1 lab	69127ea5a4
2:219754762 WNT10A G>A	2	219754762	219754762	G	A	WNT10A	c.433G>A	NM_025216.3	NP_079492.2:p.(Val145Met)	NC_000002.11:g.219754762G>A	(Likely) pathogenic	1 lab	69210856aa
17:41256955 BRCA1 C>T	17	41256955	41256955	C	T	BRCA1	c.231G>A	NM_007294.3	NP_009225.1:p.(Thr77=)	NC_000017.10:g.41256955C>T	(Likely) benign	1 lab	692254cdc6
20:30418650 MYLK2 C>T	20	30418650	30418650	C	T	MYLK2	c.1253C>T	NM_033118.4	NP_149109.1:p.(Thr418Ile)	NC_000020.10:g.30418650C>T	VUS	1 lab	00bbe5ff1b
3:9985457 CRELD1 T>C	3	9985457	9985457	T	C	CRELD1	c.1049-129T>C	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9985457T>C	(Likely) benign	1 lab	6925bb0b83
16:23646161 PALB2 C>T	16	23646161	23646161	C	T	PALB2	c.1684+22G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23646161C>T	(Likely) benign	1 lab	6926c25fcc
19:33359479 SLC7A9 G>A	19	33359479	33359479	G	A	SLC7A9	c.-39C>T	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33359479G>A	(Likely) benign	1 lab	6926ce0e57
1:215956104 USH2A A>G	1	215956104	215956104	A	G	USH2A				NC_000001.10:g.215956104A>G	(Likely) pathogenic	1 lab	692b8aa520
17:56770077 RAD51C G>A	17	56770077	56770077	G	A	RAD51C	c.73G>A	NM_058216.2	NP_478123.1:p.(Val25Met)	NC_000017.10:g.56770077G>A	VUS	1 lab	692d7a2826
1:228444508 OBSCN G>A	1	228444508	228444508	G	A	OBSCN	c.4742G>A	NM_001271223.2	NP_001258152.2:p.(Arg1581His)	NC_000001.10:g.228444508G>A	(Likely) benign	1 lab	69308fec4e
13:36006414 NBEA A>G	13	36006414	36006414	A	G	NBEA	c.6188A>G	NM_015678.4	NP_056493.3:p.(His2063Arg)	NC_000013.10:g.36006414A>G	(Likely) benign	1 lab	09f4fba475
10:69921495 MYPN C>G	10	69921495	69921495	C	G	MYPN	c.1469C>G	NM_032578.3	NP_115967.2:p.(Ser490Cys)	NC_000010.10:g.69921495C>G	VUS	1 lab	6931ca21ba
17:41244223 BRCA1 T>G	17	41244223	41244223	T	G	BRCA1	c.3325A>C	NM_007294.3	NP_009225.1:p.(Lys1109Gln)	NC_000017.10:g.41244223T>G	VUS	1 lab	69329c6931
21:38852961 DYRK1A C>T	21	38852961	38852961	C	T	DYRK1A				NC_000021.8:g.38852961C>T	(Likely) pathogenic	1 lab	914a309833
13:23905987 SACS G>A	13	23905987	23905987	G	A	SACS	c.12028C>T	NM_014363.4	NP_055178.3:p.(Gln4010Ter)	NC_000013.10:g.23905987G>A	(Likely) pathogenic	1 lab	6932e766cc
6:157522575 ARID1B C>G	6	157522575	157522575	C	G	ARID1B	c.4847C>G	NM_020732.3	NP_065783.3:p.(Ser1616Ter)	NC_000006.11:g.157522575C>G	(Likely) pathogenic	1 lab	6934cced3a
6:118881038 PLN T>A	6	118881038	118881038	T	A	PLN	c.*795T>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118881038T>A	(Likely) benign	1 lab	693610baf5
22:42172232 MEI1 C>T	22	42172232	42172232	C	T	MEI1	c.2671C>T	NM_152513.4	NP_689726.3:p.(Gln891Ter)	NC_000022.10:g.42172232C>T	(Likely) pathogenic	1 lab	6938e3da9e
1:120302538 HMGCS2 C>T	1	120302538	120302538	C	T	HMGCS2	c.634G>A	NM_005518.4	NP_005509.1:p.(Gly212Arg)	NC_000001.10:g.120302538C>T	(Likely) pathogenic	1 lab	693a0915bc
17:18022671 MYO15A G>A	17	18022671	18022671	G	A	MYO15A	c.557G>A	NM_016239.4	NP_057323.3:p.(Arg186Gln)	NC_000017.10:g.18022671G>A	VUS	1 lab	693b54a81c
14:21834671 SUPT16H C>A	14	21834671	21834671	C	A	SUPT16H	c.973G>T	NM_007192.4	NP_009123.1:p.(Val325Leu)	NC_000014.8:g.21834671C>A	(Likely) benign	1 lab	00ce2e5018
8:100587857 VPS13B G>A	8	100587857	100587857	G	A	VPS13B	c.5025-29G>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100587857G>A	(Likely) benign	1 lab	693c38d15d
16:89620231 SPG7 C>T	16	89620231	89620231	C	T	SPG7	c.1966C>T	NM_003119.2	NP_003110.1:p.(Arg656Cys)	NC_000016.9:g.89620231C>T	VUS	1 lab	693e689a9c
10:89685309 PTEN C>G	10	89685309	89685309	C	G	PTEN	c.204C>G	NM_000314.4	NP_000305.3:p.(Tyr68Ter)	NC_000010.10:g.89685309C>G	(Likely) pathogenic	1 lab	69445ad99e
2:74596540 DCTN1 T>C	2	74596540	74596540	T	C	DCTN1	c.1471A>G	NM_004082.4	NP_004073.2:p.(Met491Val)	NC_000002.11:g.74596540T>C	(Likely) benign	1 lab	694dc4ca1d
2:127816695 BIN1 C>T	2	127816695	127816695	C	T	BIN1				NC_000002.11:g.127816695C>T	(Likely) benign	1 lab	694e6e8d4e
4:88583242 DMP1 C>T	4	88583242	88583242	C	T	DMP1	c.312C>T	NM_004407.4	NP_004398.1:p.(Asp104=)	NC_000004.11:g.88583242C>T	(Likely) benign	1 lab	09facd9f2d
X:118979233 UPF3B A>G	X	118979233	118979233	A	G	UPF3B	c.397T>C	NM_080632.3	NP_542199.1:p.(Phe133Leu)	NC_000023.10:g.118979233A>G	VUS	1 lab	69524f5376
3:176750839 TBL1XR1 A>C	3	176750839	176750839	A	C	TBL1XR1	c.1336T>G	NM_024665.4	NP_078941.2:p.(Tyr446Asp)	NC_000003.11:g.176750839A>C	(Likely) pathogenic	1 lab	695373416f
11:71196591 NADSYN1 C>T	11	71196591	71196591	C	T	NADSYN1	c.1459C>T	NM_018161.5	NP_060631.2:p.(Arg487Ter)	NC_000011.9:g.71196591C>T	(Likely) pathogenic	1 lab	00d25c0948
16:16248867 ABCC6 C>T	16	16248867	16248867	C	T	ABCC6	c.3904G>A	NM_001171.5	NP_001162.4:p.(Gly1302Arg)	NC_000016.9:g.16248867C>T	VUS	1 lab	69552cd1ca
17:48694902 CACNA1G C>T	17	48694902	48694902	C	T	CACNA1G	c.5125C>T	NM_018896.4	NP_061496.2:p.(Arg1709Cys)	NC_000017.10:g.48694902C>T	VUS	1 lab	695691e120
7:65547865 ASL AG>A	7	65547865	65547867	AG	A	ASL	c.292del	NM_000048.4	NP_000039.2:p.(Glu98SerfsTer77)	NC_000007.13:g.65547867del	(Likely) pathogenic	1 lab	00d5a654a6
3:38781055 SCN10A A>T	3	38781055	38781055	A	T	SCN10A	c.2231T>A	NM_006514.3	NP_006505.3:p.(Leu744Gln)	NC_000003.11:g.38781055A>T	(Likely) pathogenic	1 lab	695710c5eb
5:90087181 ADGRV1 A>G	5	90087181	90087181	A	G	ADGRV1	c.14517+18A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90087181A>G	(Likely) benign	1 lab	09ff019e36
17:4837210 GP1BA A>G	17	4837210	4837210	A	G	GP1BA	c.1311A>G	NM_000173.5	NP_000164.5:p.(Pro437=)	NC_000017.10:g.4837210A>G	(Likely) benign	1 lab	695a59d3de
2:166904177 SCN1A C>G	2	166904177	166904177	C	G	SCN1A	c.1130G>C	NM_001165963.1	NP_001159435.1:p.(Arg377Pro)	NC_000002.11:g.166904177C>G	(Likely) pathogenic	1 lab	695a8070b4
2:29295389 PCARE G>A	2	29295389	29295389	G	A	PCARE	c.1739C>T	NM_001029883.2	NP_001025054.1:p.(Thr580Met)	NC_000002.11:g.29295389G>A	(Likely) benign	1 lab	695cd717e5
17:29533391 NF1 T>G	17	29533391	29533391	T	G	NF1	c.1392+2T>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29533391T>G	(Likely) pathogenic	1 lab	69602ce12a
20:42744792 JPH2 C>T	20	42744792	42744792	C	T	JPH2	c.1523G>A	NM_020433.4	NP_065166.2:p.(Ser508Asn)	NC_000020.10:g.42744792C>T	VUS	1 lab	0a05412876
1:5965496 NPHP4 G>A	1	5965496	5965496	G	A	NPHP4	c.1811C>T	NM_015102.4	NP_055917.1:p.(Ser604Phe)	NC_000001.10:g.5965496G>A	(Likely) benign	1 lab	69613fbbcf
13:32937653 BRCA2 G>T	13	32937653	32937653	G	T	BRCA2	c.8314G>T	NM_000059.3	NP_000050.2:p.(Glu2772Ter)	NC_000013.10:g.32937653G>T	(Likely) pathogenic	1 lab	6962f232b4
6:133802651 EYA4 G>T	6	133802651	133802651	G	T	EYA4	c.1021G>T	NM_004100.5	NP_004091.3:p.(Glu341Ter)	NC_000006.11:g.133802651G>T	(Likely) pathogenic	1 lab	69634b33ef
10:73437201 CDH23 G>A	10	73437201	73437201	G	A	CDH23	c.1515-12G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73437201G>A	VUS	1 lab	69642ede17
3:184071581 CLCN2 T>A	3	184071581	184071581	T	A	CLCN2	c.1724A>T	NM_004366.5	NP_004357.3:p.(Gln575Leu)	NC_000003.11:g.184071581T>A	VUS	1 lab	696df42551
6:10764726 MAK C>T	6	10764726	10764726	C	T	MAK				NC_000006.11:g.10764726C>T	VUS	1 lab	696e8b7d8a
3:148896253 CP C>T	3	148896253	148896253	C	T	CP	c.2827G>A	NM_000096.3	NP_000087.1:p.(Glu943Lys)	NC_000003.11:g.148896253C>T	VUS	1 lab	697042203f
17:73836294 UNC13D T>G	17	73836294	73836294	T	G	UNC13D	c.858+12A>C	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73836294T>G	(Likely) benign	1 lab	0a07873369
4:55595511 KIT G>C	4	55595511	55595511	G	C	KIT	c.2001G>C	NM_000222.3	NP_000213.1:p.(Leu667=)	NC_000004.11:g.55595511G>C	(Likely) benign	1 lab	00d965e672
1:244218383 ZBTB18 G>A	1	244218383	244218383	G	A	ZBTB18	c.1307G>A	NM_205768.3	NP_991331.1:p.(Arg436His)	NC_000001.10:g.244218383G>A	(Likely) pathogenic	1 lab	6973fa4374
10:97620257 ENTPD1 T>A	10	97620257	97620257	T	A	ENTPD1	c.1106T>A	NM_001776.6	NP_001767.3:p.(Phe369Tyr)	NC_000010.10:g.97620257T>A	VUS	1 lab	00deb5d80a
15:73615588 HCN4 C>T	15	73615588	73615588	C	T	HCN4	c.2846G>A	NM_005477.3	NP_005468.1:p.(Arg949Gln)	NC_000015.9:g.73615588C>T	(Likely) benign	1 lab	6977c41a80
X:54496524 FGD1 C>G	X	54496524	54496524	C	G	FGD1				NC_000023.10:g.54496524C>G	VUS	1 lab	697b6faf08
3:37034992 MLH1 A>C	3	37034992	37034992	A	C	MLH1				NC_000003.11:g.37034992A>C	(Likely) benign	1 lab	697d4d76a5
2:54882206 SPTBN1 G>C	2	54882206	54882206	G	C	SPTBN1	c.5823-1G>C	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54882206G>C	(Likely) pathogenic	1 lab	697d4f3689
1:216143948 USH2A T>C	1	216143948	216143948	T	C	USH2A	c.6957+19A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216143948T>C	(Likely) benign	1 lab	697e698e7b
X:18665312 RS1 C>G	X	18665312	18665312	C	G	RS1	c.325G>C	NM_000330.3	NP_000321.1:p.(Gly109Arg)	NC_000023.10:g.18665312C>G	(Likely) pathogenic	1 lab	697f7a3bf3
13:32912661 BRCA2 TG>T	13	32912661	32912663	TG	T	BRCA2	c.4171del	NM_000059.4	NP_000050.3:p.(Glu1391LysfsTer19)	NC_000013.10:g.32912663del	(Likely) pathogenic	1 lab	00e4060507
4:55593695 KIT C>CA	4	55593695	55593696	C	CA	KIT	c.1762dup	NM_000222.3	NP_000213.1:p.(Arg588LysfsTer18)	NC_000004.11:g.55593696dup	(Likely) pathogenic	1 lab	697fbb82c6
17:59761074 BRIP1 T>C	17	59761074	59761074	T	C	BRIP1	c.3333A>G	NM_032043.3	NP_114432.2:p.(Glu1111=)	NC_000017.10:g.59761074T>C	(Likely) benign	1 lab	697fe82862
2:26687908 OTOF G>A	2	26687908	26687908	G	A	OTOF	c.4800-11C>T	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26687908G>A	(Likely) benign	1 lab	69836ba809
14:105416752 AHNAK2 G>T	14	105416752	105416752	G	T	AHNAK2	c.5036C>A	NM_138420.4	NP_612429.2:p.(Ala1679Asp)	NC_000014.8:g.105416752G>T	(Likely) benign	1 lab	00e9469f95
4:155533206 FGG G>A	4	155533206	155533206	G	A	FGG	c.271C>T	NM_000509.6	NP_000500.2:p.(Gln91Ter)	NC_000004.11:g.155533206G>A	(Likely) pathogenic	1 lab	69869d55a8
14:53619228 DDHD1 G>C	14	53619228	53619228	G	C	DDHD1	c.589C>G	NM_001160148.1	NP_001153620.1:p.(Leu197Val)	NC_000014.8:g.53619228G>C	VUS	1 lab	6987507127
6:32945481 BRD2 G>T	6	32945481	32945481	G	T	BRD2	c.1330-53G>T	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32945481G>T	(Likely) benign	1 lab	0a11c32ebc
12:112915461 PTPN11 A>C	12	112915461	112915461	A	C	PTPN11	c.860A>C	NM_002834.5	NP_002825.3:p.(His287Pro)	NC_000012.11:g.112915461A>C	VUS	1 lab	6989d5e973
2:179459347 TTN C>G	2	179459347	179459347	C	G	TTN	c.50170G>C	NM_133378.4	NP_596869.4:p.(Glu16724Gln)	NC_000002.11:g.179459347C>G	VUS	1 lab	00e95536a5
6:30690347 TUBB G>A	6	30690347	30690347	G	A	TUBB	c.91G>A	NM_178014.4	NP_821133.1:p.(Asp31Asn)	NC_000006.11:g.30690347G>A	(Likely) pathogenic	1 lab	698a6534a3
2:228178780 COL4A3 A>C	2	228178780	228178780	A	C	COL4A3	c.*2194A>C	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228178780A>C	(Likely) benign	1 lab	698be6b5c2
10:121436408 BAG3 G>A	10	121436408	121436408	G	A	BAG3	c.1342G>A	NM_004281.3	NP_004272.2:p.(Asp448Asn)	NC_000010.10:g.121436408G>A	VUS	1 lab	698d6acbd3
16:69874128 MISSING A>G	16	69874128	69874128	A	G	MISSING				NC_000016.9:g.69874128A>G	VUS	1 lab	96c278c036
1:152279729 FLG C>T	1	152279729	152279729	C	T	FLG	c.7633G>A	NM_002016.1	NP_002007.1:p.(Gly2545Arg)	NC_000001.10:g.152279729C>T	(Likely) benign	1 lab	698d7b7f0a
19:50730215 MYH14 T>C	19	50730215	50730215	T	C	MYH14	c.866T>C	NM_001145809.1	NP_001139281.1:p.(Ile289Thr)	NC_000019.9:g.50730215T>C	(Likely) benign	1 lab	698eaee682
5:127597448 FBN2 G>A	5	127597448	127597448	G	A	FBN2	c.8344C>T	NM_001999.3	NP_001990.2:p.(His2782Tyr)	NC_000005.9:g.127597448G>A	(Likely) benign	1 lab	698fc25df9
2:220290421 DES C>A	2	220290421	220290421	C	A	DES	c.1325C>A	NM_001927.3	NP_001918.3:p.(Thr442Asn)	NC_000002.11:g.220290421C>A	VUS	1 lab	69903c9635
17:80765522 TBCD G>A	17	80765522	80765522	G	A	TBCD	c.1126G>A	NM_005993.5	NP_005984.3:p.(Val376Met)	NC_000017.10:g.80765522G>A	(Likely) pathogenic	1 lab	6990667308
1:156562181 NAXE A>G	1	156562181	156562181	A	G	NAXE	c.316A>G	NM_144772.2	NP_658985.2:p.(Arg106Gly)	NC_000001.10:g.156562181A>G	VUS	1 lab	6992ed7995
20:30409460 MYLK2 AG>A	20	30409460	30409462	AG	A	MYLK2	c.694del	NM_033118.4	NP_149109.1:p.(Ala232LeufsTer43)	NC_000020.10:g.30409462del	VUS	1 lab	00eb22f8c9
19:36339271 NPHS1 G>T	19	36339271	36339271	G	T	NPHS1	c.1199C>A	NM_004646.3	NP_004637.1:p.(Ser400Tyr)	NC_000019.9:g.36339271G>T	VUS	1 lab	69947a1574
X:67652826 OPHN1 G>C	X	67652826	67652826	G	C	OPHN1	c.37C>G	NM_002547.2	NP_002538.1:p.(Leu13Val)	NC_000023.10:g.67652826G>C	VUS	1 lab	6994d97a50
15:72668539 HEXA T>C	15	72668539	72668539	T	C	HEXA				NC_000015.9:g.72668539T>C	(Likely) benign	1 lab	6997ee1a7c
11:118348720 KMT2A CT>C	11	118348720	118348722	CT	C	KMT2A	c.3375del	NM_001197104.1	NP_001184033.1:p.(Ala1126LeufsTer21)	NC_000011.9:g.118348722del	(Likely) pathogenic	1 lab	6999459a93
8:38287269 FGFR1 C>T	8	38287269	38287269	C	T	FGFR1	c.289G>A	NM_023110.2	NP_075598.2:p.(Gly97Ser)	NC_000008.10:g.38287269C>T	(Likely) pathogenic	1 lab	699b2a1c35
1:193150491 B3GALT2 G>A	1	193150491	193150491	G	A	B3GALT2	c.202C>T	NM_003783.3	NP_003774.1:p.(Arg68Trp)	NC_000001.10:g.193150491G>A	(Likely) benign	1 lab	699b78308a
1:176564671 PAPPA2 G>T	1	176564671	176564671	G	T	PAPPA2	c.1931G>T	NM_020318.3	NP_064714.2:p.(Cys644Phe)	NC_000001.10:g.176564671G>T	VUS	1 lab	699d4c0793
2:166908288 SCN1A C>A	2	166908288	166908288	C	A	SCN1A				NC_000002.11:g.166908288C>A	VUS	1 lab	992f472bb8
3:127831742 RUVBL1 CG>C	3	127831742	127831744	CG	C	RUVBL1	c.349del	NM_003707.2	NP_003698.1:p.(Arg117AlafsTer8)	NC_000003.11:g.127831744del	VUS	1 lab	699df907b0
16:1260783 CACNA1H G>A	16	1260783	1260783	G	A	CACNA1H	c.4039-4G>A	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1260783G>A	(Likely) benign	1 lab	8381338659
16:23647108 PALB2 TAG>T	16	23647108	23647112	TAG	T	PALB2	c.757_758del	NM_024675.3	NP_078951.2:p.(Leu253IlefsTer3)	NC_000016.9:g.23647111_23647112del	(Likely) pathogenic	1 lab	699f3fe87f
12:106826256 POLR3B A>G	12	106826256	106826256	A	G	POLR3B	c.1625A>G	NM_018082.5	NP_060552.4:p.(Asn542Ser)	NC_000012.11:g.106826256A>G	VUS	1 lab	699f545ed4
15:51223015 AP4E1 G>T	15	51223015	51223015	G	T	AP4E1	c.716G>T	NM_007347.5	NP_031373.2:p.(Gly239Val)	NC_000015.9:g.51223015G>T	VUS	1 lab	11071a5aab
17:59763269 BRIP1 C>G	17	59763269	59763269	C	G	BRIP1	c.2833G>C	NM_032043.3	NP_114432.2:p.(Glu945Gln)	NC_000017.10:g.59763269C>G	VUS	1 lab	69a0ede1f9
17:1303402 YWHAE C>T	17	1303402	1303402	C	T	YWHAE	c.3G>A	NM_006761.4	NP_006752.1:p.(Met1?)	NC_000017.10:g.1303402C>T	(Likely) pathogenic	1 lab	69a160823e
13:32913848 BRCA2 A>G	13	32913848	32913848	A	G	BRCA2	c.5356A>G	NM_000059.4	NP_000050.3:p.(Ser1786Gly)	NC_000013.10:g.32913848A>G	VUS	1 lab	69a41082a2
8:144898915 SCRIB CTCT>C	8	144898915	144898918	CTCT	C	SCRIB				NC_000008.10:g.144898916_144898918del	VUS	1 lab	69a4fa9e3c
2:216261932 FN1 T>C	2	216261932	216261932	T	C	FN1	c.3532A>G	NM_212482.2	NP_997647.1:p.(Thr1178Ala)	NC_000002.11:g.216261932T>C	(Likely) benign	1 lab	0a175e0ac8
6:112017548 FYN T>C	6	112017548	112017548	T	C	FYN	c.974A>G	NM_002037.5	NP_002028.1:p.(Lys325Arg)	NC_000006.11:g.112017548T>C	VUS	1 lab	69a5ba44a8
13:113770055 F7 C>T	13	113770055	113770055	C	T	F7	c.512C>T	NM_000131.4	NP_000122.1:p.(Ser171Phe)	NC_000013.10:g.113770055C>T	(Likely) pathogenic	1 lab	69a5d85a0c
12:6442941 TNFRSF1A T>G	12	6442941	6442941	T	G	TNFRSF1A	c.284A>C	NM_001065.3	NP_001056.1:p.(His95Pro)	NC_000012.11:g.6442941T>G	(Likely) pathogenic	1 lab	0a1813080b
17:36091624 HNF1B TG>T	17	36091624	36091630	TG	T	HNF1B	c.1006del	NM_000458.3	NP_000449.1:p.(His336ThrfsTer40)	NC_000017.10:g.36091630del	(Likely) pathogenic	1 lab	69a9806b7f
3:41275251 CTNNB1 A>C	3	41275251	41275251	A	C	CTNNB1	c.1417A>C	NM_001904.3	NP_001895.1:p.(Ser473Arg)	NC_000003.11:g.41275251A>C	VUS	1 lab	69a9d8b754
19:17952209 JAK3 G>A	19	17952209	17952209	G	A	JAK3	c.1131C>T	NM_000215.3	NP_000206.2:p.(His377=)	NC_000019.9:g.17952209G>A	(Likely) benign	1 lab	0a1c5bbb69
X:10427719 MISSING G>A	X	10427719	10427719	G	A	MISSING				NC_000023.10:g.10427719G>A	VUS	1 lab	69af751fbb
8:61743103 CHD7 C>T	8	61743103	61743103	C	T	CHD7				NC_000008.10:g.61743103C>T	(Likely) pathogenic	1 lab	69afc7f088
5:127873040 FBN2 T>TA	5	127873040	127873041	T	TA	FBN2	c.254+2dup	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127873041dup	VUS	1 lab	69b6e364dc
13:32889762 BRCA2 G>C	13	32889762	32889762	G	C	BRCA2	c.-82G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889762G>C	(Likely) benign	1 lab	69b6f6b54f
17:37868715 ERBB2 C>T	17	37868715	37868715	C	T	ERBB2	c.1058+14C>T	NM_001005862.3	NP_001005862.1:p.?	NC_000017.10:g.37868715C>T	(Likely) benign	1 lab	00ee3ab549
1:11291113 MTOR T>C	1	11291113	11291113	T	C	MTOR				NC_000001.10:g.11291113T>C	VUS	1 lab	69bc68fd24
6:7585267 DSP G>T	6	7585267	7585267	G	T	DSP	c.7772G>T	NM_004415.2	NP_004406.2:p.(Ser2591Ile)	NC_000006.11:g.7585267G>T	VUS	1 lab	69bfb26a5b
2:166848476 SCN1A A>T	2	166848476	166848476	A	T	SCN1A	c.5309T>A	NM_001165963.1	NP_001159435.1:p.(Ile1770Asn)	NC_000002.11:g.166848476A>T	(Likely) pathogenic	1 lab	69c1676c51
15:48580714 SLC12A1 G>A	15	48580714	48580714	G	A	SLC12A1				NC_000015.9:g.48580714G>A	(Likely) pathogenic	1 lab	69c1e44391
2:167301359 SCN7A T>C	2	167301359	167301359	T	C	SCN7A	c.1539A>G	NM_002976.3	NP_002967.2:p.(Ile513Met)	NC_000002.11:g.167301359T>C	(Likely) benign	1 lab	69c35c71b5
11:47360897 MYBPC3 T>A	11	47360897	47360897	T	A	MYBPC3	c.2126A>T	NM_000256.3	NP_000247.2:p.(Asp709Val)	NC_000011.9:g.47360897T>A	VUS	1 lab	69c7076c7e
1:228505276 OBSCN G>T	1	228505276	228505276	G	T	OBSCN	c.13673G>T	NM_052843.3	NP_443075.3:p.(Arg4558Leu)	NC_000001.10:g.228505276G>T	VUS	1 lab	69cde24894
1:156084782 LMNA CG>C	1	156084782	156084783	CG	C	LMNA	c.74del	NM_170707.3	NP_733821.1:p.(Arg25ProfsTer71)	NC_000001.10:g.156084783del	VUS	1 lab	69d1428f35
5:90144363 ADGRV1 T>C	5	90144363	90144363	T	C	ADGRV1	c.17020-91T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90144363T>C	(Likely) benign	1 lab	0a27a6bc42
19:38948881 RYR1 G>T	19	38948881	38948881	G	T	RYR1	c.2116G>T	NM_000540.2	NP_000531.2:p.(Val706Phe)	NC_000019.9:g.38948881G>T	VUS	1 lab	69d4fb9513
16:1498775 CLCN7 C>T	16	1498775	1498775	C	T	CLCN7	c.1798-8G>A	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1498775C>T	(Likely) benign	1 lab	69d5c46c5f
18:51013209 DCC A>G	18	51013209	51013209	A	G	DCC	c.3779A>G	NM_005215.4	NP_005206.2:p.(Gln1260Arg)	NC_000018.9:g.51013209A>G	VUS	1 lab	00f3302aa8
10:121436330 BAG3 G>C	10	121436330	121436330	G	C	BAG3	c.1264G>C	NM_004281.3	NP_004272.2:p.(Val422Leu)	NC_000010.10:g.121436330G>C	(Likely) benign	1 lab	69d79f499b
20:31395653 DNMT3B G>A	20	31395653	31395653	G	A	DNMT3B	c.2506G>A	NM_006892.3	NP_008823.1:p.(Val836Met)	NC_000020.10:g.31395653G>A	(Likely) pathogenic	1 lab	69d897f78b
16:31499363 SLC5A2 T>C	16	31499363	31499363	T	C	SLC5A2	c.890T>C	NM_003041.4	NP_003032.1:p.(Ile297Thr)	NC_000016.9:g.31499363T>C	VUS	1 lab	69dab451d5
6:43097978 PTK7 C>G	6	43097978	43097978	C	G	PTK7	c.505C>G	NM_001270398.1	NP_001257327.1:p.(Gln169Glu)	NC_000006.11:g.43097978C>G	VUS	1 lab	69de435af2
11:108141971 ATM A>C	11	108141971	108141971	A	C	ATM	c.2922-7A>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141971A>C	(Likely) benign	1 lab	69dfc72124
9:140043478 GRIN1 G>C	9	140043478	140043478	G	C	GRIN1	c.588G>C	NM_007327.4	NP_015566.1:p.(Gln196His)	NC_000009.11:g.140043478G>C	VUS	1 lab	00f5684257
13:32972596 BRCA2 G>T	13	32972596	32972596	G	T	BRCA2	c.9946G>T	NM_000059.3	NP_000050.2:p.(Glu3316Ter)	NC_000013.10:g.32972596G>T	VUS	1 lab	69e13e120e
5:112170809 APC A>G	5	112170809	112170809	A	G	APC	c.1905A>G	NM_000038.5	NP_000029.2:p.(Gly635=)	NC_000005.9:g.112170809A>G	(Likely) benign	1 lab	69e17dc1b7
16:30722975 SRCAP G>A	16	30722975	30722975	G	A	SRCAP	c.1402G>A	NM_006662.3	NP_006653.2:p.(Asp468Asn)	NC_000016.9:g.30722975G>A	VUS	1 lab	00f8b2a2c4
1:8045018 PARK7 T>C	1	8045018	8045018	T	C	PARK7	c.474T>C	NM_007262.5	NP_009193.2:p.(Pro158=)	NC_000001.10:g.8045018T>C	(Likely) benign	1 lab	00fa36aae4
1:94495983 ABCA4 C>T	1	94495983	94495983	C	T	ABCA4	c.4352+1G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94495983C>T	(Likely) pathogenic	1 lab	69e54a1423
X:8502453 ANOS1 G>A	X	8502453	8502453	G	A	ANOS1	c.1891C>T	NM_000216.2	NP_000207.2:p.(Arg631Ter)	NC_000023.10:g.8502453G>A	(Likely) pathogenic	1 lab	69e56039ae
3:38640431 SCN5A G>A	3	38640431	38640431	G	A	SCN5A	c.2001C>T	NM_198056.2	NP_932173.1:p.(Ser667=)	NC_000003.11:g.38640431G>A	(Likely) benign	1 lab	0a2846273c
5:235364 SDHA C>T	5	235364	235364	C	T	SDHA	c.1170C>T	NM_004168.2	NP_004159.2:p.(Phe390=)	NC_000005.9:g.235364C>T	(Likely) benign	1 lab	69e9419448
3:48624600 COL7A1 C>T	3	48624600	48624600	C	T	COL7A1	c.3139+23G>A	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48624600C>T	(Likely) benign	1 lab	69e94929b1
16:58621248 CNOT1 C>T	16	58621248	58621248	C	T	CNOT1	c.378+1G>A	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58621248C>T	(Likely) pathogenic	1 lab	69e9630936
2:228148488 COL4A3 G>A	2	228148488	228148488	G	A	COL4A3				NC_000002.11:g.228148488G>A	(Likely) benign	1 lab	69edb4bfe3
1:175129945 KIAA0040 TC>T	1	175129945	175129946	TC	T	KIAA0040	c.204del	NM_014656.3	NP_055471.2:p.(Lys69ArgfsTer33)	NC_000001.10:g.175129946del	(Likely) benign	1 lab	0a286e9e59
8:116616960 TRPS1 G>C	8	116616960	116616960	G	C	TRPS1	c.1236C>G	NM_014112.5	NP_054831.2:p.(Asp412Glu)	NC_000008.10:g.116616960G>C	VUS	1 lab	0107f64df5
X:70356745 MED12 C>T	X	70356745	70356745	C	T	MED12	c.5417C>T	NM_005120.3	NP_005111.2:p.(Pro1806Leu)	NC_000023.10:g.70356745C>T	VUS	1 lab	69efdbd665
20:33581242 MYH7B C>G	20	33581242	33581242	C	G	MYH7B	c.2539C>G	NM_020884.4	NP_065935.3:p.(Arg847Gly)	NC_000020.10:g.33581242C>G	(Likely) benign	1 lab	69f000d28f
2:167168209 SCN9A G>A	2	167168209	167168209	G	A	SCN9A	c.58C>T	NM_001365536.1	NP_001352465.1:p.(Leu20Phe)	NC_000002.11:g.167168209G>A	VUS	1 lab	69f0b69ee8
12:6153611 VWF C>T	12	6153611	6153611	C	T	VWF	c.2288G>A	NM_000552.3	NP_000543.2:p.(Arg763Lys)	NC_000012.11:g.6153611C>T	VUS	1 lab	69f318bdeb
2:74274801 TET3 C>CTG	2	74274801	74274803	C	CTG	TET3	c.1758_1759dup	NM_001287491.2	NP_001274420.1:p.(Gly587ValfsTer98)	NC_000002.11:g.74274802_74274803dup	(Likely) pathogenic	1 lab	69f42a799d
7:128484894 FLNC G>GCCTGGCGAGTACACCATCAACAT	7	128484894	128484921	G	GCCTGGCGAGTACACCATCAACAT	FLNC	c.3380_3402dup	NM_001458.4	NP_001449.3:p.(Phe1135AlafsTer62)	NC_000007.13:g.128484899_128484921dup	VUS	1 lab	69f46e1a57
7:143020944 CLCN1 G>A	7	143020944	143020944	G	A	CLCN1	c.774+465G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143020944G>A	(Likely) benign	1 lab	0a2afbd3bd
4:190876319 FRG1 A>T	4	190876319	190876319	A	T	FRG1	c.432+13A>T	NM_004477.3	NP_004468.1:p.?	NC_000004.11:g.190876319A>T	(Likely) benign	1 lab	0108a157a6
X:70354283 MED12 T>C	X	70354283	70354283	T	C	MED12	c.4694T>C	NM_005120.3	NP_005111.2:p.(Ile1565Thr)	NC_000023.10:g.70354283T>C	VUS	1 lab	01094afe1b
10:69970097 MYPN G>A	10	69970097	69970097	G	A	MYPN	c.3848G>A	NM_032578.3	NP_115967.2:p.(Arg1283His)	NC_000010.10:g.69970097G>A	VUS	1 lab	69f5e735b4
2:220284877 DES G>A	2	220284877	220284877	G	A	DES	c.639G>A	NM_001927.3	NP_001918.3:p.(Ala213=)	NC_000002.11:g.220284877G>A	(Likely) benign	1 lab	69f63fc702
12:57963874 KIF5A C>T	12	57963874	57963874	C	T	KIF5A	c.1222C>T	NM_004984.2	NP_004975.2:p.(Arg408Cys)	NC_000012.11:g.57963874C>T	VUS	1 lab	69f6a7b431
X:585075 SHOX C>A	X	585075	585075	C	A	SHOX				NC_000023.10:g.585075C>A	(Likely) benign	1 lab	69f6e59280
1:201081394 CACNA1S G>T	1	201081394	201081394	G	T	CACNA1S	c.74C>A	NM_000069.2	NP_000060.2:p.(Pro25Gln)	NC_000001.10:g.201081394G>T	VUS	1 lab	69f79a3d44
14:99641279 BCL11B CCCCGCCG>C	14	99641279	99641294	CCCCGCCG	C	BCL11B	c.1887_1893del	NM_138576.3	NP_612808.1:p.(Gly630ThrfsTer91)	NC_000014.8:g.99641288_99641294del	(Likely) pathogenic	1 lab	69f89719df
1:181726124 CACNA1E G>A	1	181726124	181726124	G	A	CACNA1E	c.4191G>A	NM_001205293.3	NP_001192222.1:p.(Met1397Ile)	NC_000001.10:g.181726124G>A	VUS	1 lab	69f8c1d802
1:103427731 COL11A1 C>T	1	103427731	103427731	C	T	COL11A1	c.3114+1G>A	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103427731C>T	(Likely) pathogenic	1 lab	69faf0dcfd
2:121746992 GLI2 C>T	2	121746992	121746992	C	T	GLI2	c.3502C>T	NM_005270.4	NP_005261.2:p.(Gln1168Ter)	NC_000002.11:g.121746992C>T	(Likely) pathogenic	1 lab	69fb397674
17:17700973 RAI1 G>A	17	17700973	17700973	G	A	RAI1	c.4711G>A	NM_030665.3	NP_109590.3:p.(Ala1571Thr)	NC_000017.10:g.17700973G>A	VUS	1 lab	69ff093e3c
20:47990797 KCNB1 C>G	20	47990797	47990797	C	G	KCNB1	c.1300G>C	NM_004975.4	NP_004966.1:p.(Glu434Gln)	NC_000020.10:g.47990797C>G	VUS	1 lab	69ff29a156
7:120372961 KCND2 G>A	7	120372961	120372961	G	A	KCND2				NC_000007.13:g.120372961G>A	VUS	1 lab	99efdc697c
X:25025525 ARX C>A	X	25025525	25025525	C	A	ARX	c.1151G>T	NM_139058.2	NP_620689.1:p.(Arg384Leu)	NC_000023.10:g.25025525C>A	(Likely) pathogenic	1 lab	6a04c4c809
12:110246184 TRPV4 G>T	12	110246184	110246184	G	T	TRPV4	c.476C>A	NM_021625.4	NP_067638.3:p.(Ser159Tyr)	NC_000012.11:g.110246184G>T	VUS	1 lab	6a0ed7ac0e
19:6697476 C3 G>C	19	6697476	6697476	G	C	C3	c.2675C>G	NM_000064.2	NP_000055.2:p.(Ser892Cys)	NC_000019.9:g.6697476G>C	(Likely) pathogenic	1 lab	6a115539ef
3:38770105 SCN10A G>A	3	38770105	38770105	G	A	SCN10A	c.2568C>T	NM_006514.3	NP_006505.3:p.(Ala856=)	NC_000003.11:g.38770105G>A	(Likely) benign	1 lab	6a153a60fd
22:30050695 NF2 A>T	22	30050695	30050695	A	T	NF2	c.497A>T	NM_000268.3	NP_000259.1:p.(Glu166Val)	NC_000022.10:g.30050695A>T	VUS	1 lab	6a159ac25d
X:119679324 CUL4B G>A	X	119679324	119679324	G	A	CUL4B	c.949C>T	NM_003588.3	NP_003579.3:p.(Gln317Ter)	NC_000023.10:g.119679324G>A	(Likely) pathogenic	1 lab	6a17acb7e9
19:49675233 TRPM4 C>T	19	49675233	49675233	C	T	TRPM4	c.1051-33C>T	NM_017636.3	NP_060106.2:p.?	NC_000019.9:g.49675233C>T	(Likely) benign	1 lab	6a17ddd60e
3:38739105 SCN10A C>T	3	38739105	38739105	C	T	SCN10A	c.5606G>A	NM_006514.4	NP_006505.4:p.(Arg1869His)	NC_000003.11:g.38739105C>T	VUS	1 lab	6a1ea9dd75
8:144993119 PLEC C>T	8	144993119	144993119	C	T	PLEC	c.10951G>A	NM_000445.5	NP_000436.2:p.(Glu3651Lys)	NC_000008.10:g.144993119C>T	VUS	1 lab	0109c70c35
1:152282917 FLG G>T	1	152282917	152282917	G	T	FLG	c.4445C>A	NM_002016.1	NP_002007.1:p.(Ser1482Tyr)	NC_000001.10:g.152282917G>T	(Likely) benign	1 lab	6a1fff7a9e
17:41267762 BRCA1 A>G	17	41267762	41267762	A	G	BRCA1	c.115T>C	NM_007294.3	NP_009225.1:p.(Cys39Arg)	NC_000017.10:g.41267762A>G	(Likely) pathogenic	1 lab	6a20fd8e0f
6:33410772 SYNGAP1 C>T	6	33410772	33410772	C	T	SYNGAP1	c.2443C>T	NM_006772.3	NP_006763.2:p.(Arg815Cys)	NC_000006.11:g.33410772C>T	(Likely) benign	1 lab	6a23bd0a50
1:120529594 NOTCH2 G>T	1	120529594	120529594	G	T	NOTCH2	c.863C>A	NM_024408.4	NP_077719.2:p.(Pro288Gln)	NC_000001.10:g.120529594G>T	VUS	1 lab	010d66ca57
10:112404244 RBM20 C>T	10	112404244	112404244	C	T	RBM20	c.32C>T	NM_001134363.2	NP_001127835.2:p.(Ala11Val)	NC_000010.10:g.112404244C>T	(Likely) benign	1 lab	6a26c36462
X:43587481 MAOA G>A	X	43587481	43587481	G	A	MAOA	c.565G>A	NM_000240.3	NP_000231.1:p.(Val189Met)	NC_000023.10:g.43587481G>A	VUS	1 lab	6a286f4dd4
2:48010214 MSH6 C>T	2	48010214	48010214	C	T	MSH6				NC_000002.11:g.48010214C>T	(Likely) benign	1 lab	cfaccd2337
1:237972213 RYR2 G>A	1	237972213	237972213	G	A	RYR2	c.14311G>A	NM_001035.3	NP_001026.2:p.(Val4771Ile)	NC_000001.10:g.237972213G>A	(Likely) pathogenic	1 lab	0112865bca
2:179458055 TTN C>G	2	179458055	179458055	C	G	TTN	c.58880G>C	NM_001267550.2	NP_001254479.2:p.(Arg19627Thr)	NC_000002.11:g.179458055C>G	VUS	1 lab	0112a6ea18
19:12817041 TNPO2 G>A	19	12817041	12817041	G	A	TNPO2	c.1637C>T	NM_001136196.1	NP_001129668.1:p.(Ala546Val)	NC_000019.9:g.12817041G>A	VUS	1 lab	6a34b1a0a5
21:35821816 KCNE1 G>A	21	35821816	35821816	G	A	KCNE1	c.117C>T	NM_000219.5	NP_000210.2:p.(Asp39=)	NC_000021.8:g.35821816G>A	(Likely) benign	1 lab	6a35fdea2b
17:41246290 BRCA1 C>A	17	41246290	41246290	C	A	BRCA1	c.1258G>T	NM_007294.4	NP_009225.1:p.(Asp420Tyr)	NC_000017.10:g.41246290C>A	(Likely) benign	1 lab	6a36c011c0
1:39781321 MACF1 A>G	1	39781321	39781321	A	G	MACF1	c.3422A>G	NM_012090.5	NP_036222.3:p.(Lys1141Arg)	NC_000001.10:g.39781321A>G	(Likely) benign	1 lab	0113346f93
15:48805755 FBN1 C>T	15	48805755	48805755	C	T	FBN1	c.1579G>A	NM_000138.4	NP_000129.3:p.(Glu527Lys)	NC_000015.9:g.48805755C>T	VUS	1 lab	6a3c2a9440
18:31325639 ASXL3 C>T	18	31325639	31325639	C	T	ASXL3	c.5827C>T	NM_030632.3	NP_085135.1:p.(Pro1943Ser)	NC_000018.9:g.31325639C>T	VUS	1 lab	01199ba318
9:136304497 ADAMTS13 A>G	9	136304497	136304497	A	G	ADAMTS13	c.1716=	NM_139025.5	NP_620594.1:p.(Thr572=)	NC_000009.11:g.136304497A>G	(Likely) benign	1 lab	012171efb1
21:47916976 DIP2A G>A	21	47916976	47916976	G	A	DIP2A	c.359G>A	NM_015151.3	NP_055966.2:p.(Arg120His)	NC_000021.8:g.47916976G>A	VUS	1 lab	6a3ed36602
12:48378374 COL2A1 AG>A	12	48378374	48378376	AG	A	COL2A1	c.1841del	NM_001844.4	NP_001835.3:p.(Pro614LeufsTer15)	NC_000012.11:g.48378376del	(Likely) pathogenic	1 lab	6a401e8b02
6:91281504 MAP3K7 C>T	6	91281504	91281504	C	T	MAP3K7				NC_000006.11:g.91281504C>T	(Likely) pathogenic	1 lab	6a40b30556
13:32972489 BRCA2 C>T	13	32972489	32972489	C	T	BRCA2	c.9839C>T	NM_000059.4	NP_000050.3:p.(Pro3280Leu)	NC_000013.10:g.32972489C>T	VUS	1 lab	6a4171742c
5:112155044 APC A>G	5	112155044	112155044	A	G	APC	c.1312+3A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112155044A>G	(Likely) pathogenic	1 lab	6a41770a15
17:66391276 ARSG G>A	17	66391276	66391276	G	A	ARSG	c.1154G>A	NM_001267727.2	NP_001254656.1:p.(Arg385His)	NC_000017.10:g.66391276G>A	(Likely) benign	1 lab	6a439e908a
1:216040521 USH2A T>C	1	216040521	216040521	T	C	USH2A	c.8682-9A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216040521T>C	VUS	1 lab	6a48809c3e
2:179597602 TTN G>A	2	179597602	179597602	G	A	TTN	c.16301C>T	NM_001267550.2	NP_001254479.2:p.(Ser5434Phe)	NC_000002.11:g.179597602G>A	(Likely) benign	1 lab	6a48fcfa6b
17:29557401 NF1 G>T	17	29557401	29557401	G	T	NF1	c.3113+1G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29557401G>T	(Likely) pathogenic	1 lab	6a4babf550
11:119217254 MFRP C>T	11	119217254	119217254	C	T	MFRP	c.-31G>A	NM_031433.3	NP_113621.1:p.?	NC_000011.9:g.119217254C>T	(Likely) benign	1 lab	6a4bd525a9
14:59820651 DAAM1 G>T	14	59820651	59820651	G	T	DAAM1	c.2355G>T	NM_014992.2	NP_055807.1:p.(Glu785Asp)	NC_000014.8:g.59820651G>T	VUS	1 lab	6a4f92c87b
17:80828195 TBCD T>G	17	80828195	80828195	T	G	TBCD	c.1414T>G	NM_005993.5	NP_005984.3:p.(Trp472Gly)	NC_000017.10:g.80828195T>G	VUS	1 lab	6a50b6b757
21:45754001 CFAP410 G>A	21	45754001	45754001	G	A	CFAP410	c.144-856C>T	NM_001271441.1	NP_001258370.1:p.?	NC_000021.8:g.45754001G>A	VUS	1 lab	6a51b097ab
17:18075656 MYO15A C>G	17	18075656	18075656	C	G	MYO15A				NC_000017.10:g.18075656C>G	(Likely) benign	1 lab	6a52e206b1
11:36595902 RAG1 G>A	11	36595902	36595902	G	A	RAG1	c.1048G>A	NM_000448.2	NP_000439.1:p.(Val350Ile)	NC_000011.9:g.36595902G>A	(Likely) benign	1 lab	0a2c6e7990
4:1808728 FGFR3 G>GC	4	1808728	1808734	G	GC	FGFR3	c.2274+73dup	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1808734dup	(Likely) benign	1 lab	6a5609bb21
17:4451874 MYBBP1A A>C	17	4451874	4451874	A	C	MYBBP1A	c.1501T>G	NM_014520.4	NP_055335.2:p.(Phe501Val)	NC_000017.10:g.4451874A>C	VUS	1 lab	113f887371
16:89345799 ANKRD11 G>T	16	89345799	89345799	G	T	ANKRD11	c.7151C>A	NM_013275.6	NP_037407.4:p.(Pro2384Gln)	NC_000016.9:g.89345799G>T	VUS	1 lab	0122cbe166
1:7700525 CAMTA1 C>A	1	7700525	7700525	C	A	CAMTA1	c.576C>A	NM_015215.3	NP_056030.1:p.(Cys192Ter)	NC_000001.10:g.7700525C>A	(Likely) pathogenic	1 lab	6a57e2ceda
22:41545870 EP300 C>T	22	41545870	41545870	C	T	EP300	c.2485C>T	NM_001429.4	NP_001420.2:p.(Gln829Ter)	NC_000022.10:g.41545870C>T	(Likely) pathogenic	1 lab	6a5863eb1d
7:107338531 SLC26A4 A>C	7	107338531	107338531	A	C	SLC26A4	c.1589A>C	NM_000441.1	NP_000432.1:p.(Tyr530Ser)	NC_000007.13:g.107338531A>C	(Likely) pathogenic	1 lab	6a5893a41d
12:9004828 A2ML1 C>T	12	9004828	9004828	C	T	A2ML1	c.2486C>T	NM_144670.4	NP_653271.2:p.(Ser829Leu)	NC_000012.11:g.9004828C>T	(Likely) benign	1 lab	6a5a4ea14f
16:2141115 PKD1 C>A	16	2141115	2141115	C	A	PKD1	c.11773G>T	NM_001009944.3	NP_001009944.3:p.(Glu3925Ter)	NC_000016.9:g.2141115C>A	(Likely) pathogenic	1 lab	6a5db99cbc
X:13762612 OFD1 G>A	X	13762612	13762612	G	A	OFD1	c.491G>A	NM_003611.2	NP_003602.1:p.(Ser164Asn)	NC_000023.10:g.13762612G>A	VUS	1 lab	6a604b7be6
3:121902549 CASR G>A	3	121902549	121902549	G	A	CASR	c.-353G>A	NM_000388.3	NP_000379.2:p.?	NC_000003.11:g.121902549G>A	(Likely) benign	1 lab	6a68326b2e
19:13428082 CACNA1A A>AG	19	13428082	13428084	A	AG	CACNA1A	c.1401dup	NM_023035.2	NP_075461.2:p.(Phe468LeufsTer88)	NC_000019.9:g.13428084dup	(Likely) pathogenic	1 lab	6a6b8decbb
1:204135413 REN T>A	1	204135413	204135413	T	A	REN	c.9A>T	NM_000537.4	NP_000528.1:p.(Gly3=)	NC_000001.10:g.204135413T>A	(Likely) benign	1 lab	0a38ea96ee
1:237868638 RYR2 G>T	1	237868638	237868638	G	T	RYR2	c.9575G>T	NM_001035.3	NP_001026.2:p.(Arg3192Ile)	NC_000001.10:g.237868638G>T	VUS	1 lab	0123d27de1
3:129249868 RHO C>T	3	129249868	129249868	C	T	RHO	c.511C>T	NM_000539.3	NP_000530.1:p.(Pro171Ser)	NC_000003.11:g.129249868C>T	(Likely) pathogenic	1 lab	6a737d6945
9:140075331 ANAPC2 T>C	9	140075331	140075331	T	C	ANAPC2	c.1519A>G	NM_013366.3	NP_037498.1:p.(Ser507Gly)	NC_000009.11:g.140075331T>C	VUS	1 lab	6a77cfafec
16:81941385 PLCG2 G>C	16	81941385	81941385	G	C	PLCG2	c.1557+6G>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81941385G>C	(Likely) benign	1 lab	0a39d83518
14:74759477 ABCD4 C>T	14	74759477	74759477	C	T	ABCD4	c.910G>A	NM_005050.4	NP_005041.1:p.(Ala304Thr)	NC_000014.8:g.74759477C>T	(Likely) benign	1 lab	01240e6a62
12:52912928 KRT5 T>G	12	52912928	52912928	T	G	KRT5	c.572A>C	NM_000424.4	NP_000415.2:p.(Gln191Pro)	NC_000012.11:g.52912928T>G	(Likely) pathogenic	1 lab	2819859145
9:135206778 SETX C>A	9	135206778	135206778	C	A	SETX	c.896G>T	NM_001351527.1	NP_001338456.1:p.(Arg299Leu)	NC_000009.11:g.135206778C>A	VUS	1 lab	0a3bc010ff
16:1511394 CLCN7 C>T	16	1511394	1511394	C	T	CLCN7	c.351+12G>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1511394C>T	(Likely) benign	1 lab	89bebe315d
16:15835714 MYH11 T>C	16	15835714	15835714	T	C	MYH11	c.2576A>G	NM_001040113.1	NP_001035202.1:p.(Glu859Gly)	NC_000016.9:g.15835714T>C	(Likely) benign	1 lab	6a7bd5f7f2
13:67802332 PCDH9 TGCTG>T	13	67802332	67802337	TGCTG	T	PCDH9				NC_000013.10:g.67802334_67802337del	VUS	1 lab	6a7c000aac
16:16315548 ABCC6 G>A	16	16315548	16315548	G	A	ABCC6	c.177C>T	NM_001171.6	NP_001162.5:p.(Gly59=)	NC_000016.9:g.16315548G>A	(Likely) benign	1 lab	6a7c13c4d8
1:3334530 PRDM16 C>T	1	3334530	3334530	C	T	PRDM16	c.2830C>T	NM_022114.3	NP_071397.3:p.(Leu944Phe)	NC_000001.10:g.3334530C>T	(Likely) benign	1 lab	6a7fecfd9d
2:227942784 COL4A4 C>T	2	227942784	227942784	C	T	COL4A4	c.1813G>A	NM_000092.5	NP_000083.3:p.(Glu605Lys)	NC_000002.11:g.227942784C>T	VUS	1 lab	6a862bc513
2:233346272 ECEL1 G>A	2	233346272	233346272	G	A	ECEL1	c.1933C>T	NM_004826.3	NP_004817.2:p.(Arg645Ter)	NC_000002.11:g.233346272G>A	(Likely) pathogenic	1 lab	6a8a6c6ebe
3:38802169 SCN10A C>T	3	38802169	38802169	C	T	SCN10A	c.950+3G>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38802169C>T	(Likely) benign	1 lab	6a9110fce2
17:63531743 AXIN2 C>T	17	63531743	63531743	C	T	AXIN2	c.2237+1G>A	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63531743C>T	VUS	1 lab	01251660f6
2:179566888 TTN A>G	2	179566888	179566888	A	G	TTN	c.30511+7T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179566888A>G	(Likely) benign	1 lab	6a982719b6
7:151478459 PRKAG2 T>G	7	151478459	151478459	T	G	PRKAG2	c.245A>C	NM_016203.3	NP_057287.2:p.(Gln82Pro)	NC_000007.13:g.151478459T>G	(Likely) benign	1 lab	6a9c11fed5
8:102631927 GRHL2 T>G	8	102631927	102631927	T	G	GRHL2	c.1257+2T>G	NM_024915.3	NP_079191.2:p.?	NC_000008.10:g.102631927T>G	(Likely) pathogenic	1 lab	6a9d09d958
X:70367958 NLGN3 C>T	X	70367958	70367958	C	T	NLGN3	c.359C>T	NM_181303.1	NP_851820.1:p.(Pro120Leu)	NC_000023.10:g.70367958C>T	VUS	1 lab	6aa3f47fe9
19:38964116 RYR1 C>T	19	38964116	38964116	C	T	RYR1	c.3865C>T	NM_000540.2	NP_000531.2:p.(Arg1289Trp)	NC_000019.9:g.38964116C>T	VUS	1 lab	6aa672bfae
7:143018587 CLCN1 G>C	7	143018587	143018587	G	C	CLCN1	c.562+1G>C	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143018587G>C	(Likely) pathogenic	1 lab	6aa7b6a843
8:61707642 CHD7 C>G	8	61707642	61707642	C	G	CHD7				NC_000008.10:g.61707642C>G	(Likely) pathogenic	1 lab	703f3d9ce1
2:166847937 SCN1A C>T	2	166847937	166847937	C	T	SCN1A	c.5848G>A	NM_001202435.1	NP_001189364.1:p.(Gly1950Arg)	NC_000002.11:g.166847937C>T	VUS	1 lab	6aaa0d6c91
11:64577601 MEN1 C>T	11	64577601	64577601	C	T	MEN1	c.-20G>A	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64577601C>T	(Likely) benign	1 lab	6b08a9afe4
2:179584465 TTN G>A	2	179584465	179584465	G	A	TTN	c.23754C>T	NM_001267550.2	NP_001254479.2:p.(Leu7918=)	NC_000002.11:g.179584465G>A	(Likely) benign	1 lab	6aacda167e
18:31325708 ASXL3 C>T	18	31325708	31325708	C	T	ASXL3	c.5896C>T	NM_030632.1	NP_085135.1:p.(His1966Tyr)	NC_000018.9:g.31325708C>T	VUS	1 lab	6aae8a27ac
13:32914388 BRCA2 C>T	13	32914388	32914388	C	T	BRCA2	c.5896C>T	NM_000059.3	NP_000050.2:p.(His1966Tyr)	NC_000013.10:g.32914388C>T	(Likely) benign	1 lab	6aaeafb23f
17:41246892 BRCA1 AAAT>A	17	41246892	41246897	AAAT	A	BRCA1	c.671-18_671-16del	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41246895_41246897del	(Likely) benign	1 lab	6aaf22f0af
14:23857568 MYH6 G>GGT	14	23857568	23857579	G	GGT	MYH6	c.4176-23_4176-22dup	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23857578_23857579dup	(Likely) benign	1 lab	6aaf2bf1f1
7:100218543 TFR2 C>T	7	100218543	100218543	C	T	TFR2	c.2343G>A	NM_003227.4	NP_003218.2:p.(Trp781Ter)	NC_000007.13:g.100218543C>T	(Likely) pathogenic	1 lab	6ab1fa6e58
2:27305584 EMILIN1 G>A	2	27305584	27305584	G	A	EMILIN1	c.1145G>A	NM_007046.4	NP_008977.1:p.(Arg382Gln)	NC_000002.11:g.27305584G>A	(Likely) benign	1 lab	0a3bffb138
7:143047375 CLCN1 C>T	7	143047375	143047375	C	T	CLCN1	c.2404-90C>T	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143047375C>T	(Likely) benign	1 lab	0a3c5d30a7
8:27320764 CHRNA2 G>A	8	27320764	27320764	G	A	CHRNA2	c.1196C>T	NM_000742.4	NP_000733.2:p.(Pro399Leu)	NC_000008.10:g.27320764G>A	VUS	1 lab	0126b1ae89
1:986165 AGRN G>A	1	986165	986165	G	A	AGRN				NC_000001.10:g.986165G>A	(Likely) benign	1 lab	0a3ce1c06b
13:32914083 BRCA2 A>G	13	32914083	32914083	A	G	BRCA2	c.5591A>G	NM_000059.3	NP_000050.2:p.(Asp1864Gly)	NC_000013.10:g.32914083A>G	(Likely) benign	1 lab	6abcf4c299
12:133084780 FBRSL1 G>A	12	133084780	133084780	G	A	FBRSL1	c.333G>A	NM_001382741.1	NP_001369670.1:p.(Trp111Ter)	NC_000012.11:g.133084780G>A	(Likely) pathogenic	1 lab	6ac279f9d7
12:25368503 KRAS T>C	12	25368503	25368503	T	C	KRAS	c.451-5658A>G	NM_004985.4	NP_004976.2:p.?	NC_000012.11:g.25368503T>C	(Likely) benign	1 lab	6ac2d2162c
21:45194211 CSTB C>A	21	45194211	45194211	C	A	CSTB	c.169G>T	NM_000100.4	NP_000091.1:p.(Val57Leu)	NC_000021.8:g.45194211C>A	VUS	1 lab	0213fa4abb
16:9002211 USP7 T>C	16	9002211	9002211	T	C	USP7	c.1258A>G	NM_003470.2	NP_003461.2:p.(Lys420Glu)	NC_000016.9:g.9002211T>C	(Likely) pathogenic	1 lab	6ac414555c
13:100953785 PCCA C>CT	13	100953785	100953786	C	CT	PCCA	c.1138dup	NM_000282.3	NP_000273.2:p.(Tyr380LeufsTer9)	NC_000013.10:g.100953786dup	(Likely) pathogenic	1 lab	6ac45cb7d1
2:232326685 NCL G>C	2	232326685	232326685	G	C	NCL	c.179C>G	NM_005381.3	NP_005372.2:p.(Ser60Ter)	NC_000002.11:g.232326685G>C	(Likely) pathogenic	1 lab	6ac57183fe
1:10710753 CASZ1 T>C	1	10710753	10710753	T	C	CASZ1	c.2876A>G	NM_001079843.3	NP_001073312.1:p.(Asn959Ser)	NC_000001.10:g.10710753T>C	VUS	1 lab	6ac5df5496
2:44566301 PREPL T>C	2	44566301	44566301	T	C	PREPL	c.954A>G	NM_006036.4	NP_006027.2:p.(Glu318=)	NC_000002.11:g.44566301T>C	(Likely) benign	1 lab	0a3d60f67c
6:152776592 SYNE1 C>T	6	152776592	152776592	C	T	SYNE1				NC_000006.11:g.152776592C>T	VUS	1 lab	6ac9f10ba0
3:11070505 SLC6A1 T>G	3	11070505	11070505	T	G	SLC6A1	c.1163T>G	NM_003042.4	NP_003033.3:p.(Met388Arg)	NC_000003.11:g.11070505T>G	(Likely) pathogenic	1 lab	6acb50b014
8:126067843 WASHC5 C>G	8	126067843	126067843	C	G	WASHC5	c.2087G>C	NM_014846.3	NP_055661.3:p.(Gly696Ala)	NC_000008.10:g.126067843C>G	(Likely) pathogenic	1 lab	6acfaa4cd5
11:22257827 ANO5 G>T	11	22257827	22257827	G	T	ANO5	c.762+5G>T	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22257827G>T	VUS	1 lab	6acfc6421e
1:169512352 F5 C>T	1	169512352	169512352	C	T	F5	c.1976G>A	NM_000130.4	NP_000121.2:p.(Gly659Glu)	NC_000001.10:g.169512352C>T	VUS	1 lab	6ad09268d2
12:6128731 VWF A>G	12	6128731	6128731	A	G	VWF	c.3853T>C	NM_000552.3	NP_000543.2:p.(Ser1285Pro)	NC_000012.11:g.6128731A>G	(Likely) pathogenic	1 lab	6ad0c8c6e0
7:128484766 FLNC T>A	7	128484766	128484766	T	A	FLNC	c.3247T>A	NM_001458.4	NP_001449.3:p.(Phe1083Ile)	NC_000007.13:g.128484766T>A	VUS	1 lab	6ad38eb0a3
7:91630565 AKAP9 T>C	7	91630565	91630565	T	C	AKAP9	c.1334T>C	NM_005751.4	NP_005742.4:p.(Ile445Thr)	NC_000007.13:g.91630565T>C	VUS	1 lab	6ad69d3cce
9:134385661 POMT1 T>A	9	134385661	134385661	T	A	POMT1	c.780T>A	NM_007171.3	NP_009102.3:p.(Cys260Ter)	NC_000009.11:g.134385661T>A	(Likely) pathogenic	1 lab	6adc2fbe26
2:228162399 COL4A3 G>A	2	228162399	228162399	G	A	COL4A3	c.3575G>A	NM_000091.5	NP_000082.2:p.(Gly1192Glu)	NC_000002.11:g.228162399G>A	(Likely) pathogenic	1 lab	6adfdb176f
17:41246929 BRCA1 A>C	17	41246929	41246929	A	C	BRCA1	c.671-52T>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41246929A>C	(Likely) benign	1 lab	6b32ba3e4d
10:286041 ZMYND11 CAT>C	10	286041	286043	CAT	C	ZMYND11	c.744_745del	NM_006624.5	NP_006615.2:p.(Cys249SerfsTer2)	NC_000010.10:g.286042_286043del	VUS	1 lab	6ae2dac05c
12:70004237 LRRC10 T>C	12	70004237	70004237	T	C	LRRC10	c.382A>G	NM_201550.3	NP_963844.2:p.(Ile128Val)	NC_000012.11:g.70004237T>C	(Likely) benign	1 lab	6ae73f3119
11:108099855 ATM T>C	11	108099855	108099855	T	C	ATM	c.186-50T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108099855T>C	(Likely) benign	1 lab	6ae929c6a2
11:118343469 KMT2A C>A	11	118343469	118343469	C	A	KMT2A	c.1595C>A	NM_001197104.2	NP_001184033.1:p.(Ser532Ter)	NC_000011.9:g.118343469C>A	(Likely) pathogenic	1 lab	6aed16f7ac
6:43017858 CUL7 T>C	6	43017858	43017858	T	C	CUL7	c.1412A>G	NM_014780.5	NP_055595.2:p.(Tyr471Cys)	NC_000006.11:g.43017858T>C	VUS	1 lab	113fefa9b1
15:54305996 UNC13C G>A	15	54305996	54305996	G	A	UNC13C	c.896G>A	NM_001080534.2	NP_001074003.1:p.(Arg299Gln)	NC_000015.9:g.54305996G>A	VUS	1 lab	6aee3e746a
6:152774683 SYNE1 T>C	6	152774683	152774683	T	C	SYNE1				NC_000006.11:g.152774683T>C	(Likely) benign	1 lab	6af0b42dbf
9:123737040 C5 G>C	9	123737040	123737040	G	C	C5	c.4017+17C>G	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123737040G>C	(Likely) benign	1 lab	6af0ffdf5a
7:143017769 CLCN1 G>A	7	143017769	143017769	G	A	CLCN1	c.314G>A	NM_000083.2	NP_000074.2:p.(Arg105His)	NC_000007.13:g.143017769G>A	(Likely) benign	1 lab	6af34ae9ef
17:41258555 BRCA1 A>G	17	41258555	41258555	A	G	BRCA1	c.135-5T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41258555A>G	(Likely) benign	1 lab	6af617a9a6
X:107377647 ATG4A TAA>T	X	107377647	107377651	TAA	T	ATG4A	c.467+9_467+10del	NM_052936.5	NP_443168.2:p.?	NC_000023.10:g.107377650_107377651del	(Likely) benign	1 lab	0a3f43c4c1
17:33445620 RAD51D G>A	17	33445620	33445620	G	A	RAD51D	c.163C>T	NM_002878.3	NP_002869.3:p.(Arg55Trp)	NC_000017.10:g.33445620G>A	VUS	1 lab	6afc51507c
11:31823283 PAX6 G>C	11	31823283	31823283	G	C	PAX6	c.183C>G	NM_000280.6	NP_000271.1:p.(Tyr61Ter)	NC_000011.9:g.31823283G>C	(Likely) pathogenic	1 lab	6afcd21486
19:36321954 NPHS1 C>A	19	36321954	36321954	C	A	NPHS1	c.3481+1G>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36321954C>A	(Likely) pathogenic	1 lab	6afd2d5a68
22:38508302 PLA2G6 G>A	22	38508302	38508302	G	A	PLA2G6	c.2287C>T	NM_003560.4	NP_003551.2:p.(Gln763Ter)	NC_000022.10:g.38508302G>A	(Likely) pathogenic	1 lab	6afdfdf97e
13:32911136 BRCA2 CT>C	13	32911136	32911140	CT	C	BRCA2	c.2648del	NM_000059.4	NP_000050.3:p.(Phe883SerfsTer12)	NC_000013.10:g.32911140del	(Likely) pathogenic	1 lab	0129e1cea2
10:89692911 MISSING G>T	10	89692911	89692911	G	T	MISSING				NC_000010.10:g.89692911G>T	(Likely) pathogenic	1 lab	6b06360011
3:38812886 SCN10A A>T	3	38812886	38812886	A	T	SCN10A	c.483T>A	NM_006514.3	NP_006505.3:p.(Thr161=)	NC_000003.11:g.38812886A>T	VUS	1 lab	6b0656944a
12:80849328 MISSING G>A	12	80849328	80849328	G	A	MISSING				NC_000012.11:g.80849328G>A	(Likely) benign	1 lab	6b06e89465
7:151573674 PRKAG2 T>C	7	151573674	151573674	T	C	PRKAG2	c.32A>G	NM_016203.3	NP_057287.2:p.(Lys11Arg)	NC_000007.13:g.151573674T>C	(Likely) benign	1 lab	6b0c369b8a
17:18061836 MYO15A G>T	17	18061836	18061836	G	T	MYO15A	c.8968-1G>T	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18061836G>T	(Likely) pathogenic	1 lab	6b0c639ca6
11:108173579 ATM G>A	11	108173579	108173579	G	A	ATM	c.5320-1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108173579G>A	(Likely) pathogenic	1 lab	6b0da05cef
X:70607306 TAF1 C>G	X	70607306	70607306	C	G	TAF1	c.2482C>G	NM_001286074.1	NP_001273003.1:p.(Leu828Val)	NC_000023.10:g.70607306C>G	(Likely) pathogenic	1 lab	6b0e4d966b
9:35808572 NPR2 G>A	9	35808572	35808572	G	A	NPR2	c.2779G>A	NM_003995.4	NP_003986.2:p.(Ala927Thr)	NC_000009.11:g.35808572G>A	VUS	1 lab	124b376fcd
X:153585829 FLNA C>T	X	153585829	153585829	C	T	FLNA	c.4918G>A	NM_001456.3	NP_001447.2:p.(Gly1640Arg)	NC_000023.10:g.153585829C>T	VUS	1 lab	6b1059fea6
11:108158277 ATM C>T	11	108158277	108158277	C	T	ATM	c.3994-50C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108158277C>T	(Likely) benign	1 lab	6b10cf5105
2:10582043 ODC1 G>A	2	10582043	10582043	G	A	ODC1	c.926C>T	NM_002539.3	NP_002530.1:p.(Ser309Leu)	NC_000002.11:g.10582043G>A	(Likely) benign	1 lab	0129f68463
10:79744956 POLR3A C>A	10	79744956	79744956	C	A	POLR3A	c.3214G>T	NM_007055.3	NP_008986.2:p.(Glu1072Ter)	NC_000010.10:g.79744956C>A	(Likely) pathogenic	1 lab	6b19d350e7
2:164468192 FIGN A>AT	2	164468192	164468193	A	AT	FIGN	c.149dup	NM_018086.4	NP_060556.2:p.(Tyr50Ter)	NC_000002.11:g.164468193dup	(Likely) pathogenic	1 lab	6b1a941efe
6:149718755 TAB2 A>G	6	149718755	149718755	A	G	TAB2	c.1619A>G	NM_015093.4	NP_055908.1:p.(Gln540Arg)	NC_000006.11:g.149718755A>G	(Likely) pathogenic	1 lab	6b1d27ea27
5:1065514 SLC12A7 A>G	5	1065514	1065514	A	G	SLC12A7	c.2321T>C	NM_006598.2	NP_006589.2:p.(Met774Thr)	NC_000005.9:g.1065514A>G	(Likely) benign	1 lab	6b3a05ab40
3:15686436 BTD A>G	3	15686436	15686436	A	G	BTD	c.1073A>G	NM_000060.4	NP_000051.1:p.(His358Arg)	NC_000003.11:g.15686436A>G	VUS	1 lab	6b1f422088
21:47542075 COL6A2 G>A	21	47542075	47542075	G	A	COL6A2	c.1572+3G>A	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47542075G>A	(Likely) benign	1 lab	6b1f64d95f
9:138677023 KCNT1 G>T	9	138677023	138677023	G	T	KCNT1	c.3157-133G>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138677023G>T	(Likely) benign	1 lab	0a3f853f73
2:1546361 TPO G>T	2	1546361	1546361	G	T	TPO	c.*115G>T	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1546361G>T	(Likely) benign	1 lab	012cbf6455
19:39068824 RYR1 G>A	19	39068824	39068824	G	A	RYR1	c.14344G>A	NM_000540.2	NP_000531.2:p.(Gly4782Arg)	NC_000019.9:g.39068824G>A	VUS	1 lab	6b23233df4
7:6027135 PMS2 G>A	7	6027135	6027135	G	A	PMS2	c.1261C>T	NM_000535.6	NP_000526.2:p.(Arg421Ter)	NC_000007.13:g.6027135G>A	(Likely) pathogenic	1 lab	6b2422b391
5:235283 SDHA C>T	5	235283	235283	C	T	SDHA	c.1089C>T	NM_004168.4	NP_004159.2:p.(His363=)	NC_000005.9:g.235283C>T	(Likely) benign	1 lab	6b26bbe0f8
15:43038204 TTBK2 TG>T	15	43038204	43038208	TG	T	TTBK2	c.3523del	NM_173500.3	NP_775771.3:p.(His1175ThrfsTer42)	NC_000015.9:g.43038208del	VUS	1 lab	6b2737e314
3:49170246 LAMB2 G>A	3	49170246	49170246	G	A	LAMB2	c.55C>T	NM_002292.3	NP_002283.3:p.(Arg19Ter)	NC_000003.11:g.49170246G>A	(Likely) pathogenic	1 lab	6b286db841
6:43612973 RSPH9 C>T	6	43612973	43612973	C	T	RSPH9	c.138C>T	NM_152732.5	NP_689945.2:p.(Phe46=)	NC_000006.11:g.43612973C>T	(Likely) benign	1 lab	0a44af00a5
5:176831544 F12 G>A	5	176831544	176831544	G	A	F12	c.756C>T	NM_000505.3	NP_000496.2:p.(Ala252=)	NC_000005.9:g.176831544G>A	(Likely) benign	1 lab	6b2af6075a
2:170027147 LRP2 C>T	2	170027147	170027147	C	T	LRP2	c.11294G>A	NM_004525.2	NP_004516.2:p.(Arg3765Gln)	NC_000002.11:g.170027147C>T	VUS	1 lab	6b2b53688b
22:23917167 IGLL1 C>T	22	23917167	23917167	C	T	IGLL1				NC_000022.10:g.23917167C>T	(Likely) benign	1 lab	1bff187653
16:89345607 ANKRD11 ATCT>A	16	89345607	89345615	ATCT	A	ANKRD11	c.7340_7342del	NM_013275.5	NP_037407.4:p.(Lys2447del)	NC_000016.9:g.89345613_89345615del	(Likely) pathogenic	1 lab	6b3a52efe8
X:591105 SHOX G>A	X	591105	591105	G	A	SHOX	c.-432-96G>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591105G>A	(Likely) benign	1 lab	6b3bc02e51
9:27228298 TEK C>T	9	27228298	27228298	C	T	TEK	c.3295C>T	NM_000459.5	NP_000450.3:p.(Arg1099Ter)	NC_000009.11:g.27228298C>T	(Likely) pathogenic	1 lab	6b3caa4e13
1:2126162 FAAP20 C>A	1	2126162	2126162	C	A	FAAP20	c.27G>T	NM_182533.4	NP_872339.3:p.(Leu9=)	NC_000001.10:g.2126162C>A	VUS	1 lab	1141244ff8
21:47421896 COL6A1 G>A	21	47421896	47421896	G	A	COL6A1	c.1978G>A	NM_001848.2	NP_001839.2:p.(Ala660Thr)	NC_000021.8:g.47421896G>A	(Likely) benign	1 lab	6b3f2b4a75
17:15909862 TTC19 T>G	17	15909862	15909862	T	G	TTC19	c.656T>G	NM_017775.3	NP_060245.3:p.(Leu219Ter)	NC_000017.10:g.15909862T>G	(Likely) pathogenic	1 lab	6b4064c5c3
3:148930468 CP T>C	3	148930468	148930468	T	C	CP	c.164A>G	NM_000096.3	NP_000087.1:p.(Tyr55Cys)	NC_000003.11:g.148930468T>C	(Likely) pathogenic	1 lab	6b426d578b
1:100327811 AGL A>T	1	100327811	100327811	A	T	AGL	c.294-2A>T	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100327811A>T	(Likely) pathogenic	1 lab	6b42be4fa7
2:179437525 TTN G>A	2	179437525	179437525	G	A	TTN	c.73334C>T	NM_001267550.2	NP_001254479.2:p.(Thr24445Ile)	NC_000002.11:g.179437525G>A	VUS	1 lab	6b439e6ded
17:37822757 TCAP C>A	17	37822757	37822757	C	A	TCAP	c.*395C>A	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37822757C>A	(Likely) benign	1 lab	6b451db93b
5:179260738 SQSTM1 C>T	5	179260738	179260738	C	T	SQSTM1	c.1121C>T	NM_003900.5	NP_003891.1:p.(Pro374Leu)	NC_000005.9:g.179260738C>T	VUS	1 lab	013154cdaf
17:41234574 BRCA1 G>A	17	41234574	41234574	G	A	BRCA1	c.4204C>T	NM_007294.4	NP_009225.1:p.(His1402Tyr)	NC_000017.10:g.41234574G>A	(Likely) benign	1 lab	6b47fc17e3
5:89985882 ADGRV1 A>G	5	89985882	89985882	A	G	ADGRV1	c.6695A>G	NM_032119.4	NP_115495.3:p.(Tyr2232Cys)	NC_000005.9:g.89985882A>G	(Likely) benign	1 lab	6b4954a155
10:122619783 WDR11 C>A	10	122619783	122619783	C	A	WDR11	c.515C>A	NM_018117.11	NP_060587.8:p.(Ser172Ter)	NC_000010.10:g.122619783C>A	VUS	1 lab	6b495be356
19:54684748 MBOAT7 G>C	19	54684748	54684748	G	C	MBOAT7	c.596C>G	NM_024298.4	NP_077274.3:p.(Pro199Arg)	NC_000019.9:g.54684748G>C	VUS	1 lab	6be670c051
2:227872951 COL4A4 C>A	2	227872951	227872951	C	A	COL4A4	c.4592G>T	NM_000092.5	NP_000083.3:p.(Cys1531Phe)	NC_000002.11:g.227872951C>A	(Likely) pathogenic	1 lab	6b5588d0e5
22:21351170 LZTR1 T>C	22	21351170	21351170	T	C	LZTR1	c.2326-5T>C	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21351170T>C	(Likely) benign	1 lab	6b76707b7e
16:2164695 PKD1 G>A	16	2164695	2164695	G	A	PKD1	c.2329C>T	NM_001009944.2	NP_001009944.2:p.(Gln777Ter)	NC_000016.9:g.2164695G>A	(Likely) pathogenic	1 lab	0a468126da
17:65341900 PSMD12 A>T	17	65341900	65341900	A	T	PSMD12	c.869T>A	NM_002816.5	NP_002807.1:p.(Ile290Lys)	NC_000017.10:g.65341900A>T	VUS	1 lab	6b5b05a32d
10:95995809 PLCE1 C>T	10	95995809	95995809	C	T	PLCE1	c.2352C>T	NM_016341.3	NP_057425.3:p.(Asp784=)	NC_000010.10:g.95995809C>T	(Likely) benign	1 lab	6b5c4fb463
X:48544528 WAS G>A	X	48544528	48544528	G	A	WAS	c.559+5G>A	NM_000377.2	NP_000368.1:p.?	NC_000023.10:g.48544528G>A	VUS	1 lab	0a475a129d
12:49426762 KMT2D T>TG	12	49426762	49426763	T	TG	KMT2D	c.11725dup	NM_003482.4	NP_003473.3:p.(Gln3909ProfsTer103)	NC_000012.11:g.49426763dup	(Likely) pathogenic	1 lab	6b5d634b2c
7:98609141 TRRAP G>A	7	98609141	98609141	G	A	TRRAP	c.11191G>A	NM_003496.4	NP_003487.1:p.(Ala3731Thr)	NC_000007.13:g.98609141G>A	VUS	1 lab	6b5e35206c
22:19346947 HIRA C>T	22	19346947	19346947	C	T	HIRA	c.2146G>A	NM_003325.4	NP_003316.3:p.(Val716Met)	NC_000022.10:g.19346947C>T	VUS	1 lab	0137930d72
5:169535450 FOXI1 G>C	5	169535450	169535450	G	C	FOXI1	c.972G>C	NM_012188.4	NP_036320.2:p.(Pro324=)	NC_000005.9:g.169535450G>C	(Likely) benign	1 lab	6b5e546666
16:29816190 KIF22 T>C	16	29816190	29816190	T	C	KIF22	c.1733T>C	NM_007317.2	NP_015556.1:p.(Leu578Pro)	NC_000016.9:g.29816190T>C	(Likely) benign	1 lab	6b662be82c
15:75673036 SIN3A A>G	15	75673036	75673036	A	G	SIN3A				NC_000015.9:g.75673036A>G	(Likely) pathogenic	1 lab	6b70378cb2
6:7583419 DSP T>C	6	7583419	7583419	T	C	DSP	c.5924T>C	NM_004415.4	NP_004406.2:p.(Val1975Ala)	NC_000006.11:g.7583419T>C	VUS	1 lab	6b787e143a
19:17945784 JAK3 G>A	19	17945784	17945784	G	A	JAK3	c.2076C>T	NM_000215.3	NP_000206.2:p.(Ala692=)	NC_000019.9:g.17945784G>A	(Likely) benign	1 lab	0a4966358a
1:41249872 KCNQ4 C>CG	1	41249872	41249875	C	CG	KCNQ4	c.110dup	NM_004700.3	NP_004691.2:p.(Gly38ArgfsTer198)	NC_000001.10:g.41249875dup	(Likely) pathogenic	1 lab	6b7b7fd118
17:41245351 BRCA1 C>A	17	41245351	41245351	C	A	BRCA1	c.2197G>T	NM_007294.3	NP_009225.1:p.(Glu733Ter)	NC_000017.10:g.41245351C>A	(Likely) pathogenic	1 lab	6b84d8b51c
13:38923901 MISSING TTCA>T	13	38923901	38923904	TTCA	T	MISSING				NC_000013.10:g.38923902_38923904del	(Likely) pathogenic	1 lab	6b87aa47a3
10:94369187 KIF11 A>T	10	94369187	94369187	A	T	KIF11	c.619A>T	NM_004523.4	NP_004514.2:p.(Lys207Ter)	NC_000010.10:g.94369187A>T	(Likely) pathogenic	1 lab	6b882a3f3e
10:69948855 MYPN G>A	10	69948855	69948855	G	A	MYPN	c.2897G>A	NM_032578.4	NP_115967.2:p.(Cys966Tyr)	NC_000010.10:g.69948855G>A	VUS	1 lab	0138d2c11a
9:35560589 RUSC2 C>T	9	35560589	35560589	C	T	RUSC2	c.3952C>T	NM_014806.3	NP_055621.1:p.(Arg1318Ter)	NC_000009.11:g.35560589C>T	VUS	1 lab	6b89b49c7d
2:213914577 IKZF2 C>A	2	213914577	213914577	C	A	IKZF2	c.434G>T	NM_016260.3	NP_057344.2:p.(Cys145Phe)	NC_000002.11:g.213914577C>A	(Likely) pathogenic	1 lab	6b8e52f778
3:81627198 GBE1 A>G	3	81627198	81627198	A	G	GBE1	c.1496T>C	NM_000158.4	NP_000149.4:p.(Met499Thr)	NC_000003.11:g.81627198A>G	(Likely) pathogenic	1 lab	013f24f700
16:23391725 SCNN1B C>T	16	23391725	23391725	C	T	SCNN1B				NC_000016.9:g.23391725C>T	(Likely) benign	1 lab	6b8eb17aa7
11:64574554 MEN1 C>T	11	64574554	64574554	C	T	MEN1	c.841G>A	NM_130799.2	NP_570711.1:p.(Gly281Arg)	NC_000011.9:g.64574554C>T	(Likely) pathogenic	1 lab	6b9152e6f1
X:13778263 OFD1 A>C	X	13778263	13778263	A	C	OFD1	c.1684A>C	NM_003611.2	NP_003602.1:p.(Lys562Gln)	NC_000023.10:g.13778263A>C	(Likely) benign	1 lab	6b97327f77
22:36745262 MYH9 T>C	22	36745262	36745262	T	C	MYH9				NC_000022.10:g.36745262T>C	VUS	1 lab	6b9818beb4
21:38877695 DYRK1A T>TG	21	38877695	38877696	T	TG	DYRK1A				NC_000021.8:g.38877696dup	(Likely) pathogenic	1 lab	6b9a5ed21c
17:42932375 EFTUD2 G>C	17	42932375	42932375	G	C	EFTUD2	c.2046-3C>G	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42932375G>C	(Likely) pathogenic	1 lab	6b9b249ee5
2:179499274 TTN G>A	2	179499274	179499274	G	A	TTN	c.42234C>T	NM_001267550.2	NP_001254479.2:p.(Thr14078=)	NC_000002.11:g.179499274G>A	(Likely) benign	1 lab	6b9e7388a7
2:228135589 COL4A3 G>T	2	228135589	228135589	G	T	COL4A3	c.1679G>T	NM_000091.4	NP_000082.2:p.(Gly560Val)	NC_000002.11:g.228135589G>T	(Likely) pathogenic	1 lab	6b9e88a5d6
15:73617459 HCN4 C>T	15	73617459	73617459	C	T	HCN4	c.1815G>A	NM_005477.3	NP_005468.1:p.(Thr605=)	NC_000015.9:g.73617459C>T	(Likely) benign	1 lab	6b9ea1a458
11:108126945 ATM A>G	11	108126945	108126945	A	G	ATM	c.2128A>G	NM_000051.3	NP_000042.3:p.(Thr710Ala)	NC_000011.9:g.108126945A>G	(Likely) benign	1 lab	6ba2d72e86
19:13248288 NACC1 C>T	19	13248288	13248288	C	T	NACC1	c.1227-4C>T	NM_052876.4	NP_443108.1:p.?	NC_000019.9:g.13248288C>T	(Likely) benign	1 lab	01407ef320
1:107961196 NTNG1 G>A	1	107961196	107961196	G	A	NTNG1	c.1088-6G>A	NM_001113228.1	NP_001106699.1:p.?	NC_000001.10:g.107961196G>A	(Likely) benign	1 lab	6bab3d81b5
17:4801988 CHRNE A>G	17	4801988	4801988	A	G	CHRNE	c.*43T>C	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4801988A>G	(Likely) benign	1 lab	6bb1d2dff8
9:134398404 POMT1 C>G	9	134398404	134398404	C	G	POMT1	c.2155C>G	NM_001353193.1	NP_001340122.1:p.(Leu719Val)	NC_000009.11:g.134398404C>G	VUS	1 lab	6bb23f37e1
6:76538256 MYO6 G>A	6	76538256	76538256	G	A	MYO6	c.188-1G>A	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76538256G>A	(Likely) pathogenic	1 lab	6bb2885f24
22:41574935 EP300 C>G	22	41574935	41574935	C	G	EP300				NC_000022.10:g.41574935C>G	VUS	1 lab	6bb41c17c3
10:127461227 MMP21 C>T	10	127461227	127461227	C	T	MMP21	c.790G>A	NM_147191.1	NP_671724.1:p.(Glu264Lys)	NC_000010.10:g.127461227C>T	VUS	1 lab	6bb4f9c103
11:2191083 TH G>A	11	2191083	2191083	G	A	TH	c.202C>T	NM_199292.2	NP_954986.2:p.(Arg68Cys)	NC_000011.9:g.2191083G>A	VUS	1 lab	6bb645c851
18:21121051 NPC1 T>C	18	21121051	21121051	T	C	NPC1	c.2495A>G	NM_000271.5	NP_000262.2:p.(Asp832Gly)	NC_000018.9:g.21121051T>C	VUS	1 lab	6bba75f9cd
21:46340843 ITGB2 A>G	21	46340843	46340843	A	G	ITGB2	c.-111T>C	NM_000211.3	NP_000202.2:p.?	NC_000021.8:g.46340843A>G	(Likely) benign	1 lab	6bbdeb72a8
5:112162944 APC G>A	5	112162944	112162944	G	A	APC	c.1548G>A	NM_000038.5	NP_000029.2:p.(Lys516=)	NC_000005.9:g.112162944G>A	(Likely) pathogenic	1 lab	6be9682741
2:179453513 TTN ATCT>A	2	179453513	179453516	ATCT	A	TTN	c.62936_62938del	NM_001267550.2	NP_001254479.2:p.(Glu20979_Met20980delinsVal)	NC_000002.11:g.179453514_179453516del	VUS	1 lab	6bbf07afe1
13:32913826 BRCA2 T>C	13	32913826	32913826	T	C	BRCA2	c.5334T>C	NM_000059.3	NP_000050.2:p.(Asn1778=)	NC_000013.10:g.32913826T>C	(Likely) benign	1 lab	6bc29b6f1d
19:5679660 MICOS13 GA>G	19	5679660	5679661	GA	G	MICOS13	c.143del	NM_205767.2	NP_991330.1:p.(Val48AlafsTer42)	NC_000019.9:g.5679661del	(Likely) pathogenic	1 lab	6bc772f3dd
18:29116207 DSG2 T>C	18	29116207	29116207	T	C	DSG2	c.1466T>C	NM_001943.3	NP_001934.2:p.(Val489Ala)	NC_000018.9:g.29116207T>C	VUS	1 lab	6bc7b9b653
3:37042464 MLH1 G>A	3	37042464	37042464	G	A	MLH1	c.226G>A	NM_000249.4	NP_000240.1:p.(Val76Ile)	NC_000003.11:g.37042464G>A	VUS	1 lab	6bcbbe0896
15:59500970 MYO1E C>T	15	59500970	59500970	C	T	MYO1E	c.1440G>A	NM_004998.3	NP_004989.2:p.(Thr480=)	NC_000015.9:g.59500970C>T	(Likely) benign	1 lab	6bcfabc845
2:166847984 SCN1A G>A	2	166847984	166847984	G	A	SCN1A	c.5801C>T	NM_001165963.1	NP_001159435.1:p.(Thr1934Ile)	NC_000002.11:g.166847984G>A	VUS	1 lab	6bd041fa92
3:10400513 ATP2B2 G>T	3	10400513	10400513	G	T	ATP2B2	c.1998C>A	NM_001001331.2	NP_001001331.1:p.(Cys666Ter)	NC_000003.11:g.10400513G>T	(Likely) pathogenic	1 lab	6bd1d19561
15:93444492 CHD2 C>A	15	93444492	93444492	C	A	CHD2	c.25C>A	NM_001271.4	NP_001262.3:p.(Gln9Lys)	NC_000015.9:g.93444492C>A	(Likely) benign	1 lab	6bd3002112
7:91709333 AKAP9 T>C	7	91709333	91709333	T	C	AKAP9	c.7886T>C	NM_005751.4	NP_005742.4:p.(Val2629Ala)	NC_000007.13:g.91709333T>C	(Likely) benign	1 lab	0a49888229
1:12302577 VPS13D T>C	1	12302577	12302577	T	C	VPS13D	c.105T>C	NM_015378.4	NP_056193.2:p.(Val35=)	NC_000001.10:g.12302577T>C	(Likely) benign	1 lab	0a4d101c87
19:50795591 MYH14 G>A	19	50795591	50795591	G	A	MYH14				NC_000019.9:g.50795591G>A	VUS	1 lab	6be49ac88c
5:127503451 SLC12A2 A>G	5	127503451	127503451	A	G	SLC12A2	c.2617-2A>G	NM_001046.2	NP_001037.1:p.?	NC_000005.9:g.127503451A>G	VUS	1 lab	6be4f0b645
2:179441967 TTN T>A	2	179441967	179441967	T	A	TTN	c.69095A>T	NM_001267550.2	NP_001254479.2:p.(His23032Leu)	NC_000002.11:g.179441967T>A	VUS	1 lab	6be5847fe9
1:103474072 COL11A1 C>A	1	103474072	103474072	C	A	COL11A1	c.1666G>T	NM_080629.2	NP_542196.2:p.(Gly556Trp)	NC_000001.10:g.103474072C>A	VUS	1 lab	6bebc3bd26
2:167168054 SCN9A C>T	2	167168054	167168054	C	T	SCN9A	c.213G>A	NM_001365536.1	NP_001352465.1:p.(Val71=)	NC_000002.11:g.167168054C>T	(Likely) benign	1 lab	6becd08254
4:101947163 PPP3CA G>A	4	101947163	101947163	G	A	PPP3CA	c.1425C>T	NM_000944.5	NP_000935.1:p.(Gly475=)	NC_000004.11:g.101947163G>A	(Likely) benign	1 lab	0a4fb907e5
22:29121084 CHEK2 G>A	22	29121084	29121084	G	A	CHEK2	c.473C>T	NM_007194.4	NP_009125.1:p.(Ala158Val)	NC_000022.10:g.29121084G>A	VUS	1 lab	014591a396
1:21889608 ALPL C>A	1	21889608	21889608	C	A	ALPL	c.303C>A	NM_000478.4	NP_000469.3:p.(Tyr101Ter)	NC_000001.10:g.21889608C>A	(Likely) pathogenic	1 lab	6c0c940219
10:1126376 WDR37 C>A	10	1126376	1126376	C	A	WDR37	c.356C>A	NM_014023.4	NP_054742.2:p.(Ser119Tyr)	NC_000010.10:g.1126376C>A	VUS	1 lab	6c13bce18a
1:6535114 PLEKHG5 ACTT>A	1	6535114	6535124	ACTT	A	PLEKHG5	c.523_525del	NM_198681.3	NP_941374.2:p.(Lys175del)	NC_000001.10:g.6535122_6535124del	VUS	1 lab	6c15ca1e53
2:179642308 TTN T>C	2	179642308	179642308	T	C	TTN	c.4484A>G	NM_001267550.2	NP_001254479.2:p.(Gln1495Arg)	NC_000002.11:g.179642308T>C	VUS	1 lab	6c1904dd2b
4:95575636 PDLIM5 A>C	4	95575636	95575636	A	C	PDLIM5	c.1309A>C	NM_006457.5	NP_006448.5:p.(Lys437Gln)	NC_000004.11:g.95575636A>C	VUS	1 lab	6c1d0d9875
10:126090318 OAT G>A	10	126090318	126090318	G	A	OAT	c.991C>T	NM_000274.3	NP_000265.1:p.(Arg331Ter)	NC_000010.10:g.126090318G>A	(Likely) pathogenic	1 lab	6c1d3c9758
3:37035353 MLH1 C>T	3	37035353	37035353	C	T	MLH1	c.116+199C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37035353C>T	(Likely) benign	1 lab	6c1d902b24
7:128471019 FLNC G>A	7	128471019	128471019	G	A	FLNC	c.328G>A	NM_001458.4	NP_001449.3:p.(Glu110Lys)	NC_000007.13:g.128471019G>A	VUS	1 lab	6c1df4433c
2:48033337 MSH6 T>A	2	48033337	48033337	T	A	MSH6	c.3647-6T>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033337T>A	(Likely) benign	1 lab	6c1e2117af
16:56918072 SLC12A3 G>A	16	56918072	56918072	G	A	SLC12A3	c.1781G>A	NM_000339.2	NP_000330.2:p.(Gly594Asp)	NC_000016.9:g.56918072G>A	VUS	1 lab	6c2365b762
16:30723622 SRCAP C>T	16	30723622	30723622	C	T	SRCAP	c.1855C>T	NM_006662.2	NP_006653.2:p.(Arg619Trp)	NC_000016.9:g.30723622C>T	VUS	1 lab	6c24dacec5
10:53458596 PRKG1 CTGAGGA>C	10	53458596	53458602	CTGAGGA	C	PRKG1	c.593-105748_593-105743del	NM_006258.4	NP_006249.1:p.?	NC_000010.10:g.53458597_53458602del	(Likely) benign	1 lab	6c26abb09b
2:166032773 SCN3A A>C	2	166032773	166032773	A	C	SCN3A	c.132T>G	NM_006922.4	NP_008853.3:p.(Asp44Glu)	NC_000002.11:g.166032773A>C	(Likely) benign	1 lab	6c26e289e6
6:135818897 AHI1 C>A	6	135818897	135818897	C	A	AHI1	c.-293G>T	NM_017651.4	NP_060121.3:p.?	NC_000006.11:g.135818897C>A	(Likely) benign	1 lab	6c2b3806ad
3:38936385 SCN11A C>T	3	38936385	38936385	C	T	SCN11A	c.2474G>A	NM_014139.3	NP_054858.2:p.(Gly825Glu)	NC_000003.11:g.38936385C>T	(Likely) benign	1 lab	6c2e5ab1a7
1:207940512 CD46 G>T	1	207940512	207940512	G	T	CD46	c.828G>T	NM_002389.4	NP_002380.3:p.(Trp276Cys)	NC_000001.10:g.207940512G>T	VUS	1 lab	6c322585b4
13:32937545 BRCA2 C>G	13	32937545	32937545	C	G	BRCA2	c.8206C>G	NM_000059.3	NP_000050.2:p.(Leu2736Val)	NC_000013.10:g.32937545C>G	VUS	1 lab	6c3227674e
1:11850897 MTHFR G>A	1	11850897	11850897	G	A	MTHFR	c.1811C>T	NM_005957.5	NP_005948.3:p.(Pro604Leu)	NC_000001.10:g.11850897G>A	VUS	1 lab	014716121a
12:49420109 KMT2D G>A	12	49420109	49420109	G	A	KMT2D	c.15640C>T	NM_003482.4	NP_003473.3:p.(Arg5214Cys)	NC_000012.11:g.49420109G>A	(Likely) pathogenic	1 lab	6c3664fb12
19:36220064 KMT2B C>T	19	36220064	36220064	C	T	KMT2B	c.4784C>T	NM_014727.3	NP_055542.1:p.(Ala1595Val)	NC_000019.9:g.36220064C>T	VUS	1 lab	6c39e26147
1:156107028 LMNA G>A	1	156107028	156107028	G	A	LMNA	c.1608+5G>A	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156107028G>A	VUS	1 lab	6c3a939ef2
13:32913617 BRCA2 G>T	13	32913617	32913617	G	T	BRCA2	c.5125G>T	NM_000059.4	NP_000050.3:p.(Asp1709Tyr)	NC_000013.10:g.32913617G>T	(Likely) benign	1 lab	6c3d23b4c5
1:228552766 OBSCN CT>G	1	228552766	228552767	CT	G	OBSCN	c.21797_21798delinsG	NM_001271223.2	NP_001258152.2:p.(Thr7266ArgfsTer53)	NC_000001.10:g.228552766_228552767delinsG	(Likely) benign	1 lab	6c430461e5
12:49425896 KMT2D G>A	12	49425896	49425896	G	A	KMT2D	c.12592C>T	NM_003482.4	NP_003473.3:p.(Arg4198Ter)	NC_000012.11:g.49425896G>A	(Likely) pathogenic	1 lab	6c444dba95
2:190437632 SLC40A1 G>A	2	190437632	190437632	G	A	SLC40A1	c.327C>T	NM_014585.5	NP_055400.1:p.(Ile109=)	NC_000002.11:g.190437632G>A	(Likely) benign	1 lab	6c4486513c
13:20763471 GJB2 C>G	13	20763471	20763471	C	G	GJB2	c.250G>C	NM_004004.5	NP_003995.2:p.(Val84Leu)	NC_000013.10:g.20763471C>G	(Likely) pathogenic	1 lab	6c4607fcd4
3:38592038 SCN5A G>C	3	38592038	38592038	G	C	SCN5A	c.5825C>G	NM_198056.2	NP_932173.1:p.(Pro1942Arg)	NC_000003.11:g.38592038G>C	VUS	1 lab	6c48eca807
18:31187657 ASXL3 A>G	18	31187657	31187657	A	G	ASXL3	c.137+17A>G	NM_030632.3	NP_085135.1:p.?	NC_000018.9:g.31187657A>G	(Likely) benign	1 lab	0a565e4868
9:135866303 GFI1B C>T	9	135866303	135866303	C	T	GFI1B	c.859C>T	NM_004188.4	NP_004179.3:p.(Gln287Ter)	NC_000009.11:g.135866303C>T	(Likely) pathogenic	1 lab	6c4c694058
10:90699437 ACTA2 C>T	10	90699437	90699437	C	T	ACTA2	c.635G>A	NM_001613.2	NP_001604.1:p.(Arg212Gln)	NC_000010.10:g.90699437C>T	(Likely) pathogenic	1 lab	6c4d14c07a
2:99013198 CNGA3 T>C	2	99013198	99013198	T	C	CNGA3	c.1565T>C	NM_001298.2	NP_001289.1:p.(Ile522Thr)	NC_000002.11:g.99013198T>C	(Likely) pathogenic	1 lab	6c4ea961ef
20:62062576 KCNQ2 G>A	20	62062576	62062576	G	A	KCNQ2	c.1148+117C>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62062576G>A	(Likely) benign	1 lab	876c69389d
7:107340591 SLC26A4 G>A	7	107340591	107340591	G	A	SLC26A4				NC_000007.13:g.107340591G>A	VUS	1 lab	6c51daf478
18:56033337 NEDD4L G>C	18	56033337	56033337	G	C	NEDD4L	c.1940G>C	NM_001144967.2	NP_001138439.1:p.(Arg647Thr)	NC_000018.9:g.56033337G>C	VUS	1 lab	6c52c933fa
5:112175574 APC GACAA>G	5	112175574	112175580	GACAA	G	APC	c.4286_4289del	NM_000038.6	NP_000029.2:p.(Gln1429ProfsTer43)	NC_000005.9:g.112175577_112175580del	(Likely) pathogenic	1 lab	6c52e8d862
22:51117016 SHANK3 A>T	22	51117016	51117016	A	T	SHANK3	c.568A>T	NM_001372044.2	NP_001358973.1:p.(Asn190Tyr)	NC_000022.10:g.51117016A>T	VUS	1 lab	014910d551
2:167304142 SCN7A G>C	2	167304142	167304142	G	C	SCN7A	c.1367C>G	NM_002976.3	NP_002967.2:p.(Ala456Gly)	NC_000002.11:g.167304142G>C	(Likely) benign	1 lab	6c54240f03
12:9009774 A2ML1 A>G	12	9009774	9009774	A	G	A2ML1				NC_000012.11:g.9009774A>G	(Likely) benign	1 lab	7b67deeee6
2:220284939 DES G>A	2	220284939	220284939	G	A	DES	c.640-34G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220284939G>A	(Likely) benign	1 lab	6c54e24fbc
20:2413386 TGM6 T>A	20	2413386	2413386	T	A	TGM6	c.*97T>A	NM_198994.2	NP_945345.2:p.?	NC_000020.10:g.2413386T>A	(Likely) benign	1 lab	6c56690814
3:37081782 MLH1 T>G	3	37081782	37081782	T	G	MLH1	c.1664T>G	NM_000249.3	NP_000240.1:p.(Leu555Arg)	NC_000003.11:g.37081782T>G	(Likely) pathogenic	1 lab	6c56ac2882
2:179605886 TTN TCTGCTGCACAGGTGG>T	2	179605886	179605901	TCTGCTGCACAGGTGG	T	TTN	c.12059_12073del	NM_001267550.2	NP_001254479.2:p.(Ser4020Ter)	NC_000002.11:g.179605887_179605901del	VUS	1 lab	014f1290b0
19:11561629 PRKCSH T>C	19	11561629	11561629	T	C	PRKCSH	c.*185T>C	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11561629T>C	(Likely) benign	1 lab	6c5909fffe
11:121016805 TECTA G>A	11	121016805	121016805	G	A	TECTA				NC_000011.9:g.121016805G>A	(Likely) pathogenic	1 lab	6c591cb39a
3:47888367 DHX30 A>T	3	47888367	47888367	A	T	DHX30	c.1805A>T	NM_138615.3	NP_619520.1:p.(Tyr602Phe)	NC_000003.11:g.47888367A>T	(Likely) benign	1 lab	01577b1b35
3:52440899 BAP1 C>T	3	52440899	52440899	C	T	BAP1	c.605G>A	NM_004656.3	NP_004647.1:p.(Trp202Ter)	NC_000003.11:g.52440899C>T	(Likely) pathogenic	1 lab	6c5e61a848
3:14183326 TMEM43 T>C	3	14183326	14183326	T	C	TMEM43	c.*31T>C	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14183326T>C	(Likely) benign	1 lab	6c61409d9b
3:71037150 FOXP1 G>A	3	71037150	71037150	G	A	FOXP1				NC_000003.11:g.71037150G>A	(Likely) pathogenic	1 lab	9b0495f133
2:234676940 UGT1A1 C>T	2	234676940	234676940	C	T	UGT1A1	c.1159C>T	NM_000463.3	NP_000454.1:p.(Pro387Ser)	NC_000002.11:g.234676940C>T	VUS	1 lab	6c6efacd1a
2:215813331 ABCA12 C>T	2	215813331	215813331	C	T	ABCA12	c.7093G>A	NM_173076.2	NP_775099.2:p.(Asp2365Asn)	NC_000002.11:g.215813331C>T	(Likely) benign	1 lab	6c6fbad07e
5:161522487 GABRG2 G>A	5	161522487	161522487	G	A	GABRG2				NC_000005.9:g.161522487G>A	(Likely) benign	1 lab	0b2e47926c
10:76781908 KAT6B A>AGAAGAG	10	76781908	76781914	A	AGAAGAG	KAT6B	c.3296_3297insGGAAGA	NM_012330.4	NP_036462.2:p.(Glu1103_Glu1104dup)	NC_000010.10:g.76781913_76781914insGGAAGA	VUS	1 lab	015a0abf80
3:38639246 SCN5A C>T	3	38639246	38639246	C	T	SCN5A	c.2236G>A	NM_198056.3	NP_932173.1:p.(Glu746Lys)	NC_000003.11:g.38639246C>T	VUS	1 lab	015a7dca4e
1:209792015 LAMB3 A>AC	1	209792015	209792016	A	AC	LAMB3	c.2702-12dup	NM_001017402.2	NP_001017402.1:p.?	NC_000001.10:g.209792016dup	(Likely) benign	1 lab	015e58dde9
2:179396643 TTN T>C	2	179396643	179396643	T	C	TTN	c.104699A>G	NM_001267550.2	NP_001254479.2:p.(Glu34900Gly)	NC_000002.11:g.179396643T>C	VUS	1 lab	6c75079ba3
9:130430411 STXBP1 G>A	9	130430411	130430411	G	A	STXBP1	c.847G>A	NM_003165.3	NP_003156.1:p.(Glu283Lys)	NC_000009.11:g.130430411G>A	(Likely) pathogenic	1 lab	6c76570936
4:73959812 ANKRD17 GGTCTCCA>G	4	73959812	73959823	GGTCTCCA	G	ANKRD17	c.5304_5310del	NM_032217.4	NP_115593.3:p.(Asp1770Ter)	NC_000004.11:g.73959817_73959823del	(Likely) pathogenic	1 lab	6c79510583
1:43408985 SLC2A1 G>A	1	43408985	43408985	G	A	SLC2A1	c.26C>T	NM_006516.2	NP_006507.2:p.(Thr9Met)	NC_000001.10:g.43408985G>A	(Likely) pathogenic	1 lab	6c79c6a9a1
22:21167781 PI4KA G>A	22	21167781	21167781	G	A	PI4KA	c.870C>T	NM_058004.4	NP_477352.3:p.(Pro290=)	NC_000022.10:g.21167781G>A	(Likely) benign	1 lab	6c7a3beb1f
2:179644877 TTN C>T	2	179644877	179644877	C	T	TTN	c.3579G>A	NM_001267550.2	NP_001254479.2:p.(Val1193=)	NC_000002.11:g.179644877C>T	(Likely) benign	1 lab	6c7ca70247
2:167159625 SCN9A G>A	2	167159625	167159625	G	A	SCN9A	c.876C>T	NM_002977.3	NP_002968.1:p.(Thr292=)	NC_000002.11:g.167159625G>A	(Likely) benign	1 lab	6c7d83b646
21:47541029 COL6A2 G>A	21	47541029	47541029	G	A	COL6A2	c.1450G>A	NM_001849.3	NP_001840.3:p.(Gly484Arg)	NC_000021.8:g.47541029G>A	VUS	1 lab	6c7fa57cdc
2:217303180 SMARCAL1 G>A	2	217303180	217303180	G	A	SMARCAL1	c.1682G>A	NM_014140.3	NP_054859.2:p.(Arg561His)	NC_000002.11:g.217303180G>A	VUS	1 lab	6c80cb76fe
3:38812770 SCN10A G>A	3	38812770	38812770	G	A	SCN10A	c.599C>T	NM_006514.3	NP_006505.3:p.(Ala200Val)	NC_000003.11:g.38812770G>A	VUS	1 lab	6c82c6db7a
11:68080186 LRP5 G>C	11	68080186	68080186	G	C	LRP5	c.4G>C	NM_002335.2	NP_002326.2:p.(Glu2Gln)	NC_000011.9:g.68080186G>C	VUS	1 lab	6c8413ea35
2:48018085 MSH6 G>T	2	48018085	48018085	G	T	MSH6	c.280G>T	NM_000179.2	NP_000170.1:p.(Asp94Tyr)	NC_000002.11:g.48018085G>T	VUS	1 lab	6c87c17e99
17:73748643 ITGB4 G>A	17	73748643	73748643	G	A	ITGB4	c.4093G>A	NM_000213.5	NP_000204.3:p.(Val1365Ile)	NC_000017.10:g.73748643G>A	(Likely) benign	1 lab	0a59cab479
5:235444 SDHA A>G	5	235444	235444	A	G	SDHA	c.1250A>G	NM_004168.3	NP_004159.2:p.(Tyr417Cys)	NC_000005.9:g.235444A>G	VUS	1 lab	6c898fdea0
2:73676579 ALMS1 T>TAGAG	2	73676579	73676584	T	TAGAG	ALMS1	c.2930_2933dup	NM_015120.4	NP_055935.4:p.(Ser979ArgfsTer13)	NC_000002.11:g.73676581_73676584dup	(Likely) pathogenic	1 lab	6c89a7bc1d
22:41922324 ACO2 G>A	22	41922324	41922324	G	A	ACO2	c.1820G>A	NM_001098.3	NP_001089.1:p.(Arg607His)	NC_000022.10:g.41922324G>A	(Likely) pathogenic	1 lab	6c8ca43ad6
1:204948612 NFASC C>T	1	204948612	204948612	C	T	NFASC	c.2101C>T	NM_001005388.2	NP_001005388.2:p.(Arg701Cys)	NC_000001.10:g.204948612C>T	VUS	1 lab	6c8e4f728e
5:112163623 APC C>G	5	112163623	112163623	C	G	APC	c.1549-3C>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112163623C>G	(Likely) pathogenic	1 lab	6c8e7d3522
12:4479549 FGF23 G>A	12	4479549	4479549	G	A	FGF23	c.716C>T	NM_020638.2	NP_065689.1:p.(Thr239Met)	NC_000012.11:g.4479549G>A	(Likely) benign	1 lab	6c90498051
20:2377148 TGM6 T>A	20	2377148	2377148	T	A	TGM6	c.425-4T>A	NM_198994.3	NP_945345.2:p.?	NC_000020.10:g.2377148T>A	VUS	1 lab	016ff44408
1:46659569 POMGNT1 G>A	1	46659569	46659569	G	A	POMGNT1	c.908C>T	NM_001243766.1	NP_001230695.1:p.(Pro303Leu)	NC_000001.10:g.46659569G>A	(Likely) pathogenic	1 lab	6c930013c4
19:13320158 CACNA1A C>T	19	13320158	13320158	C	T	CACNA1A	c.6494G>A	NM_001127222.2	NP_001120694.1:p.(Arg2165His)	NC_000019.9:g.13320158C>T	VUS	1 lab	6c94dbfb1d
10:88683436 BMPR1A C>T	10	88683436	88683436	C	T	BMPR1A	c.1559C>T	NM_004329.2	NP_004320.2:p.(Thr520Met)	NC_000010.10:g.88683436C>T	VUS	1 lab	6c9500ea7d
17:78188020 SGSH C>A	17	78188020	78188020	C	A	SGSH	c.614G>T	NM_000199.5	NP_000190.1:p.(Gly205Val)	NC_000017.10:g.78188020C>A	(Likely) pathogenic	1 lab	6c96030f98
16:23652464 PALB2 G>C	16	23652464	23652464	G	C	PALB2	c.15C>G	NM_024675.3	NP_078951.2:p.(Pro5=)	NC_000016.9:g.23652464G>C	(Likely) benign	1 lab	6c961a084d
1:160094216 ATP1A2 G>A	1	160094216	160094216	G	A	ATP1A2	c.626G>A	NM_000702.4	NP_000693.1:p.(Cys209Tyr)	NC_000001.10:g.160094216G>A	(Likely) pathogenic	1 lab	6c962273b8
19:2251285 AMH C>T	19	2251285	2251285	C	T	AMH	c.1012C>T	NM_000479.5	NP_000470.3:p.(Arg338Cys)	NC_000019.9:g.2251285C>T	VUS	1 lab	017178d80c
X:70341604 MED12 A>G	X	70341604	70341604	A	G	MED12	c.1039A>G	NM_005120.3	NP_005111.2:p.(Ser347Gly)	NC_000023.10:g.70341604A>G	(Likely) benign	1 lab	0a5d665d7e
19:36333296 NPHS1 G>A	19	36333296	36333296	G	A	NPHS1	c.2491C>T	NM_004646.3	NP_004637.1:p.(Arg831Cys)	NC_000019.9:g.36333296G>A	(Likely) pathogenic	1 lab	6ca1e944fc
2:179463472 TTN TAC>T	2	179463472	179463474	TAC	T	TTN	c.56962+1_56962+2del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179463473_179463474del	(Likely) pathogenic	1 lab	0a60db8fe1
1:17355106 SDHB C>T	1	17355106	17355106	C	T	SDHB	c.412G>A	NM_003000.2	NP_002991.2:p.(Asp138Asn)	NC_000001.10:g.17355106C>T	(Likely) pathogenic	1 lab	6ca30c8939
1:103453214 COL11A1 C>T	1	103453214	103453214	C	T	COL11A1	c.2477G>A	NM_001854.3	NP_001845.3:p.(Gly826Asp)	NC_000001.10:g.103453214C>T	(Likely) pathogenic	1 lab	6ca3b1b1e7
14:23870173 MYH6 C>T	14	23870173	23870173	C	T	MYH6	c.1155G>A	NM_002471.3	NP_002462.2:p.(Ser385=)	NC_000014.8:g.23870173C>T	(Likely) benign	1 lab	6ca64a5e73
3:130717231 ATP2C1 C>T	3	130717231	130717231	C	T	ATP2C1	c.2485C>T	NM_014382.5	NP_055197.2:p.(Gln829Ter)	NC_000003.11:g.130717231C>T	(Likely) pathogenic	1 lab	6caa9991a1
1:181701758 CACNA1E G>A	1	181701758	181701758	G	A	CACNA1E	c.2536G>A	NM_000721.4	NP_000712.2:p.(Glu846Lys)	NC_000001.10:g.181701758G>A	VUS	1 lab	0172b9c760
22:31020046 TCN2 C>T	22	31020046	31020046	C	T	TCN2	c.1222+976C>T	NM_000355.4	NP_000346.2:p.?	NC_000022.10:g.31020046C>T	(Likely) benign	1 lab	01747c88f1
6:42933455 PEX6 C>T	6	42933455	42933455	C	T	PEX6	c.2435G>A	NM_000287.3	NP_000278.3:p.(Arg812Gln)	NC_000006.11:g.42933455C>T	(Likely) pathogenic	1 lab	6caf754658
11:46724296 ZNF408 C>T	11	46724296	46724296	C	T	ZNF408	c.373C>T	NM_024741.3	NP_079017.1:p.(Gln125Ter)	NC_000011.9:g.46724296C>T	VUS	1 lab	0175a4d079
6:42689551 PRPH2 C>G	6	42689551	42689551	C	G	PRPH2	c.522G>C	NM_000322.5	NP_000313.2:p.(Trp174Cys)	NC_000006.11:g.42689551C>G	VUS	1 lab	6cb2fcde30
9:139417320 NOTCH1 C>T	9	139417320	139417320	C	T	NOTCH1	c.724G>A	NM_017617.5	NP_060087.3:p.(Glu242Lys)	NC_000009.11:g.139417320C>T	VUS	1 lab	6cb55791de
18:29055636 DSG3 G>A	18	29055636	29055636	G	A	DSG3	c.2413G>A	NM_001944.3	NP_001935.2:p.(Asp805Asn)	NC_000018.9:g.29055636G>A	VUS	1 lab	0176061dd6
16:1509123 CLCN7 G>A	16	1509123	1509123	G	A	CLCN7	c.660C>T	NM_001287.5	NP_001278.1:p.(His220=)	NC_000016.9:g.1509123G>A	(Likely) benign	1 lab	6cb9a428a3
4:120160829 USP53 A>G	4	120160829	120160829	A	G	USP53	c.-86A>G	NM_019050.2	NP_061923.2:p.?	NC_000004.11:g.120160829A>G	(Likely) benign	1 lab	6cbaa809d6
9:139390835 NOTCH1 C>T	9	139390835	139390835	C	T	NOTCH1	c.7356G>A	NM_017617.3	NP_060087.3:p.(Ala2452=)	NC_000009.11:g.139390835C>T	(Likely) benign	1 lab	6cbbdde352
12:6145654 VWF G>A	12	6145654	6145654	G	A	VWF	c.2446C>T	NM_000552.3	NP_000543.2:p.(Arg816Trp)	NC_000012.11:g.6145654G>A	(Likely) pathogenic	1 lab	6cbe79f41e
19:38995999 RYR1 C>T	19	38995999	38995999	C	T	RYR1	c.8361C>T	NM_000540.2	NP_000531.2:p.(Thr2787=)	NC_000019.9:g.38995999C>T	(Likely) benign	1 lab	6cc02dfb80
16:23647433 PALB2 C>T	16	23647433	23647433	C	T	PALB2	c.434G>A	NM_024675.3	NP_078951.2:p.(Ser145Asn)	NC_000016.9:g.23647433C>T	(Likely) benign	1 lab	6cc0859eec
17:59763532 BRIP1 G>A	17	59763532	59763532	G	A	BRIP1	c.2576-6C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59763532G>A	(Likely) benign	1 lab	6cc326731f
5:138145759 CTNNA1 G>A	5	138145759	138145759	G	A	CTNNA1	c.334G>A	NM_001903.5	NP_001894.2:p.(Ala112Thr)	NC_000005.9:g.138145759G>A	VUS	1 lab	6ccab64cb6
1:1168088 B3GALT6 G>A	1	1168088	1168088	G	A	B3GALT6	c.430G>A	NM_080605.3	NP_542172.2:p.(Asp144Asn)	NC_000001.10:g.1168088G>A	VUS	1 lab	6ccc5e1d09
9:129377847 LMX1B C>T	9	129377847	129377847	C	T	LMX1B	c.325C>T	NM_002316.4	NP_002307.2:p.(Gln109Ter)	NC_000009.11:g.129377847C>T	(Likely) pathogenic	1 lab	6cce1bdd62
15:89382278 ACAN G>A	15	89382278	89382278	G	A	ACAN				NC_000015.9:g.89382278G>A	(Likely) pathogenic	1 lab	6cd092a1d3
12:48375885 COL2A1 C>T	12	48375885	48375885	C	T	COL2A1	c.2355+5G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375885C>T	(Likely) pathogenic	1 lab	6cd1c1bc4c
18:44149474 LOXHD1 G>A	18	44149474	44149474	G	A	LOXHD1	c.2175C>T	NM_144612.6	NP_653213.6:p.(Asn725=)	NC_000018.9:g.44149474G>A	(Likely) benign	1 lab	6cd2d9e242
7:117229537 CFTR T>A	7	117229537	117229537	T	A	CFTR	c.1680-870T>A	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117229537T>A	(Likely) benign	1 lab	6cd41ea735
14:29237130 FOXG1 C>G	14	29237130	29237130	C	G	FOXG1	c.645C>G	NM_005249.4	NP_005240.3:p.(Phe215Leu)	NC_000014.8:g.29237130C>G	(Likely) pathogenic	1 lab	6cd546aa9d
10:104352393 SUFU G>GT	10	104352393	104352394	G	GT	SUFU	c.510dup	NM_016169.3	NP_057253.2:p.(Glu171Ter)	NC_000010.10:g.104352394dup	(Likely) pathogenic	1 lab	6cd7a03d09
21:27372447 APP G>A	21	27372447	27372447	G	A	APP	c.916C>T	NM_000484.3	NP_000475.1:p.(Arg306Cys)	NC_000021.8:g.27372447G>A	VUS	1 lab	6cdb24f7cd
10:75602245 CAMK2G G>A	10	75602245	75602245	G	A	CAMK2G	c.874C>T	NM_001367534.1	NP_001354463.1:p.(Arg292Cys)	NC_000010.10:g.75602245G>A	VUS	1 lab	6cdd2e2f75
1:200555300 KIF14 T>C	1	200555300	200555300	T	C	KIF14	c.3170A>G	NM_014875.2	NP_055690.1:p.(Glu1057Gly)	NC_000001.10:g.200555300T>C	(Likely) pathogenic	1 lab	6ce9a03dcd
7:81596512 CACNA2D1 T>C	7	81596512	81596512	T	C	CACNA2D1				NC_000007.13:g.81596512T>C	(Likely) benign	1 lab	9d2f4dd342
12:8982333 A2ML1 C>A	12	8982333	8982333	C	A	A2ML1	c.420C>A	NM_144670.4	NP_653271.2:p.(Arg140=)	NC_000012.11:g.8982333C>A	(Likely) benign	1 lab	6ceadeab33
8:144996865 PLEC TC>T	8	144996865	144996867	TC	T	PLEC	c.7312del	NM_000445.5	NP_000436.2:p.(Glu2438ArgfsTer18)	NC_000008.10:g.144996867del	(Likely) pathogenic	1 lab	01794d2413
5:127705027 FBN2 T>C	5	127705027	127705027	T	C	FBN2	c.2096A>G	NM_001999.4	NP_001990.2:p.(Asp699Gly)	NC_000005.9:g.127705027T>C	(Likely) benign	1 lab	6cee008b0e
9:2718269 KCNV2 G>C	9	2718269	2718269	G	C	KCNV2	c.530G>C	NM_133497.4	NP_598004.1:p.(Cys177Ser)	NC_000009.11:g.2718269G>C	VUS	1 lab	6d12d1fa72
X:38145254 RPGR CCCCTT>C	X	38145254	38145260	CCCCTT	C	RPGR	c.2993_2997del	NM_001034853.2	NP_001030025.1:p.(Glu998GlyfsTer79)	NC_000023.10:g.38145256_38145260del	(Likely) pathogenic	1 lab	6cf0f6d375
3:38622618 SCN5A G>A	3	38622618	38622618	G	A	SCN5A	c.3032C>T	NM_198056.2	NP_932173.1:p.(Pro1011Leu)	NC_000003.11:g.38622618G>A	(Likely) benign	1 lab	6cf39a970e
8:144999116 PLEC C>T	8	144999116	144999116	C	T	PLEC	c.5392G>A	NM_201380.2	NP_958782.1:p.(Glu1798Lys)	NC_000008.10:g.144999116C>T	(Likely) benign	1 lab	6cf47626d8
17:59886047 BRIP1 A>G	17	59886047	59886047	A	G	BRIP1	c.699T>C	NM_032043.3	NP_114432.2:p.(Ile233=)	NC_000017.10:g.59886047A>G	(Likely) benign	1 lab	6cf6843bcd
1:9784435 PIK3CD T>C	1	9784435	9784435	T	C	PIK3CD	c.2820T>C	NM_005026.5	NP_005017.3:p.(His940=)	NC_000001.10:g.9784435T>C	(Likely) benign	1 lab	6cf8941024
2:27306726 EMILIN1 C>T	2	27306726	27306726	C	T	EMILIN1	c.2287C>T	NM_007046.3	NP_008977.1:p.(Arg763Trp)	NC_000002.11:g.27306726C>T	VUS	1 lab	6cfbff5c24
22:29106051 CHEK2 T>C	22	29106051	29106051	T	C	CHEK2	c.793-4A>G	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29106051T>C	(Likely) benign	1 lab	6cfd6b61f6
6:32150702 AGER G>A	6	32150702	32150702	G	A	AGER	c.607C>T	NM_001136.4	NP_001127.1:p.(Arg203Cys)	NC_000006.11:g.32150702G>A	(Likely) benign	1 lab	0a68ca5db0
13:32953549 BRCA2 G>A	13	32953549	32953549	G	A	BRCA2	c.8850G>A	NM_000059.3	NP_000050.2:p.(Lys2950=)	NC_000013.10:g.32953549G>A	(Likely) benign	1 lab	6cfe96a57e
8:90996788 NBN A>G	8	90996788	90996788	A	G	NBN	c.2T>C	NM_002485.4	NP_002476.2:p.(Met1?)	NC_000008.10:g.90996788A>G	(Likely) pathogenic	1 lab	6d05dd67a8
1:1431174 ATAD3B C>T	1	1431174	1431174	C	T	ATAD3B	c.1924C>T	NM_031921.6	NP_114127.3:p.(Pro642Ser)	NC_000001.10:g.1431174C>T	(Likely) benign	1 lab	6d0710f790
12:52200239 SCN8A C>T	12	52200239	52200239	C	T	SCN8A	c.4969C>T	NM_014191.4	NP_055006.1:p.(Leu1657=)	NC_000012.11:g.52200239C>T	(Likely) benign	1 lab	6d08f5e0e2
20:42815411 JPH2 G>A	20	42815411	42815411	G	A	JPH2	c.-66C>T	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42815411G>A	(Likely) benign	1 lab	6d0c638f9b
22:37319423 CSF2RB G>C	22	37319423	37319423	G	C	CSF2RB	c.200+14G>C	NM_000395.3	NP_000386.1:p.?	NC_000022.10:g.37319423G>C	(Likely) benign	1 lab	388c0b87b4
5:112174026 APC T>G	5	112174026	112174026	T	G	APC	c.2735T>G	NM_000038.6	NP_000029.2:p.(Leu912Ter)	NC_000005.9:g.112174026T>G	(Likely) pathogenic	1 lab	6d128e1a40
2:238949912 UBE2F A>G	2	238949912	238949912	A	G	UBE2F	c.508-17A>G	NM_001278305.1	NP_001265234.1:p.?	NC_000002.11:g.238949912A>G	VUS	1 lab	6d19830935
3:53808634 CACNA1D G>A	3	53808634	53808634	G	A	CACNA1D	c.4191G>A	NM_000720.4	NP_000711.1:p.(Met1397Ile)	NC_000003.11:g.53808634G>A	VUS	1 lab	017a840de0
16:89345758 ANKRD11 G>A	16	89345758	89345758	G	A	ANKRD11	c.7192C>T	NM_013275.6	NP_037407.4:p.(Gln2398Ter)	NC_000016.9:g.89345758G>A	(Likely) pathogenic	1 lab	017ab6768e
13:32944659 BRCA2 G>T	13	32944659	32944659	G	T	BRCA2	c.8452G>T	NM_000059.3	NP_000050.2:p.(Val2818Phe)	NC_000013.10:g.32944659G>T	VUS	1 lab	6d1bfcf4da
17:41249322 BRCA1 C>T	17	41249322	41249322	C	T	BRCA1	c.548-16G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249322C>T	(Likely) benign	1 lab	6d1de6bb3f
9:129456049 LMX1B C>T	9	129456049	129456049	C	T	LMX1B	c.844C>T	NM_002316.3	NP_002307.2:p.(Gln282Ter)	NC_000009.11:g.129456049C>T	(Likely) pathogenic	1 lab	6d1f1511a6
2:179575577 TTN A>T	2	179575577	179575577	A	T	TTN	c.28247T>A	NM_001267550.2	NP_001254479.2:p.(Phe9416Tyr)	NC_000002.11:g.179575577A>T	(Likely) benign	1 lab	6d22c60d44
14:104501396 TDRD9 A>G	14	104501396	104501396	A	G	TDRD9	c.3716+3A>G	NM_153046.3	NP_694591.2:p.?	NC_000014.8:g.104501396A>G	VUS	1 lab	6d25b7721c
X:70888256 MISSING C>T	X	70888256	70888256	C	T	MISSING				NC_000023.10:g.70888256C>T	(Likely) benign	1 lab	5b74c45bfa
10:89685305 PTEN T>A	10	89685305	89685305	T	A	PTEN	c.200T>A	NM_000314.8	NP_000305.3:p.(Ile67Lys)	NC_000010.10:g.89685305T>A	VUS	1 lab	6d25d4ab11
12:112888301 PTPN11 A>C	12	112888301	112888301	A	C	PTPN11	c.317A>C	NM_002834.3	NP_002825.3:p.(Asp106Ala)	NC_000012.11:g.112888301A>C	(Likely) pathogenic	1 lab	6d264b778f
2:39239471 SOS1 C>A	2	39239471	39239471	C	A	SOS1	c.2186G>T	NM_005633.3	NP_005624.2:p.(Trp729Leu)	NC_000002.11:g.39239471C>A	(Likely) pathogenic	1 lab	6d2775bd71
X:10174519 CLCN4 C>T	X	10174519	10174519	C	T	CLCN4	c.677C>T	NM_001830.3	NP_001821.2:p.(Pro226Leu)	NC_000023.10:g.10174519C>T	(Likely) pathogenic	1 lab	6d27a58f78
10:67829128 CTNNA3 G>C	10	67829128	67829128	G	C	CTNNA3	c.2097C>G	NM_013266.4	NP_037398.2:p.(Asn699Lys)	NC_000010.10:g.67829128G>C	VUS	1 lab	017aeea256
2:179592042 TTN A>G	2	179592042	179592042	A	G	TTN	c.20050T>C	NM_001267550.1	NP_001254479.1:p.(Ser6684Pro)	NC_000002.11:g.179592042A>G	(Likely) benign	1 lab	6d287e1312
2:152346482 NEB T>TA	2	152346482	152346483	T	TA	NEB	c.19836+2dup	NM_004543.5	NP_004534.3:p.?	NC_000002.11:g.152346483dup	(Likely) pathogenic	1 lab	6d28ac36d9
15:44914431 SPG11 G>A	15	44914431	44914431	G	A	SPG11	c.2431C>T	NM_025137.3	NP_079413.3:p.(Gln811Ter)	NC_000015.9:g.44914431G>A	(Likely) pathogenic	1 lab	6d2d0bafb4
3:8787561 CAV3 T>G	3	8787561	8787561	T	G	CAV3	c.*6+2T>G	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8787561T>G	VUS	1 lab	6d2d2902c9
6:32006999 CYP21A2 G>A	6	32006999	32006999	G	A	CYP21A2	c.421G>A	NM_000500.7	NP_000491.4:p.(Glu141Lys)	NC_000006.11:g.32006999G>A	(Likely) pathogenic	1 lab	6d2fa30ed4
X:41075194 USP9X G>A	X	41075194	41075194	G	A	USP9X	c.5374G>A	NM_001039590.2	NP_001034679.2:p.(Val1792Ile)	NC_000023.10:g.41075194G>A	(Likely) benign	1 lab	6d3107b09f
16:2090129 NTHL1 C>T	16	2090129	2090129	C	T	NTHL1	c.791+5G>A	NM_002528.7	NP_002519.2:p.?	NC_000016.9:g.2090129C>T	VUS	1 lab	6d33e78d66
15:91337479 BLM G>A	15	91337479	91337479	G	A	BLM				NC_000015.9:g.91337479G>A	(Likely) benign	1 lab	6d34d802ac
13:26967519 CDK8 G>A	13	26967519	26967519	G	A	CDK8	c.662G>A	NM_001260.2	NP_001251.1:p.(Gly221Glu)	NC_000013.10:g.26967519G>A	(Likely) pathogenic	1 lab	6d368cfeba
16:21763773 OTOA G>A	16	21763773	21763773	G	A	OTOA	c.3002G>A	NM_144672.4	NP_653273.3:p.(Gly1001Glu)	NC_000016.9:g.21763773G>A	VUS	1 lab	6d372e5a94
9:5050706 JAK2 C>T	9	5050706	5050706	C	T	JAK2	c.489C>T	NM_004972.4	NP_004963.1:p.(His163=)	NC_000009.11:g.5050706C>T	(Likely) benign	1 lab	017db451c3
12:6092296 VWF C>T	12	6092296	6092296	C	T	VWF	c.7081+20G>A	NM_000552.5	NP_000543.3:p.?	NC_000012.11:g.6092296C>T	(Likely) benign	1 lab	6d40302b51
19:1008271 GRIN3B G>A	19	1008271	1008271	G	A	GRIN3B	c.2447G>A	NM_138690.1	NP_619635.1:p.(Arg816Gln)	NC_000019.9:g.1008271G>A	VUS	1 lab	6d4332cd1a
17:29585516 NF1 C>G	17	29585516	29585516	C	G	NF1	c.4328C>G	NM_001042492.3	NP_001035957.1:p.(Ser1443Ter)	NC_000017.10:g.29585516C>G	(Likely) pathogenic	1 lab	6d44096f9c
3:8787123 CAV3 G>T	3	8787123	8787123	G	T	CAV3	c.115-89G>T	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8787123G>T	(Likely) benign	1 lab	6d45e41f3d
2:71838611 DYSF T>C	2	71838611	71838611	T	C	DYSF	c.4076T>C	NM_001130987.1	NP_001124459.1:p.(Leu1359Pro)	NC_000002.11:g.71838611T>C	VUS	1 lab	6d4865a0af
3:38781123 SCN10A T>C	3	38781123	38781123	T	C	SCN10A	c.2163A>G	NM_006514.3	NP_006505.3:p.(Pro721=)	NC_000003.11:g.38781123T>C	(Likely) benign	1 lab	6d4a29c270
13:32900637 BRCA2 G>T	13	32900637	32900637	G	T	BRCA2	c.518G>T	NM_000059.3	NP_000050.2:p.(Gly173Val)	NC_000013.10:g.32900637G>T	VUS	1 lab	6d4bc6f4ec
17:7577063 TP53 T>C	17	7577063	7577063	T	C	TP53	c.875A>G	NM_000546.6	NP_000537.3:p.(Lys292Arg)	NC_000017.10:g.7577063T>C	(Likely) benign	1 lab	6d4cb15008
18:50942653 DCC C>T	18	50942653	50942653	C	T	DCC	c.3163+127C>T	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50942653C>T	(Likely) benign	1 lab	01846d24e4
8:106815279 ZFPM2 G>A	8	106815279	106815279	G	A	ZFPM2	c.2969G>A	NM_012082.3	NP_036214.2:p.(Ser990Asn)	NC_000008.10:g.106815279G>A	(Likely) benign	1 lab	6d55e53b76
16:3486883 ZNF597 G>T	16	3486883	3486883	G	T	ZNF597	c.816C>A	NM_152457.3	NP_689670.1:p.(Asn272Lys)	NC_000016.9:g.3486883G>T	VUS	1 lab	115422aae1
16:79632895 MAF G>A	16	79632895	79632895	G	A	MAF	c.905C>T	NM_005360.5	NP_005351.2:p.(Ala302Val)	NC_000016.9:g.79632895G>A	(Likely) pathogenic	1 lab	6d56b4bec0
11:47363746 MYBPC3 T>C	11	47363746	47363746	T	C	MYBPC3	c.1625-39A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47363746T>C	(Likely) benign	1 lab	6d7d3f5067
11:61724874 BEST1 C>T	11	61724874	61724874	C	T	BEST1	c.652C>T	NM_004183.3	NP_004174.1:p.(Arg218Cys)	NC_000011.9:g.61724874C>T	(Likely) pathogenic	1 lab	6d5f4af1f3
3:9488841 SETD5 GATTA>G	3	9488841	9488845	GATTA	G	SETD5	c.1633_1636del	NM_001080517.3	NP_001073986.1:p.(Ile545LeufsTer40)	NC_000003.11:g.9488842_9488845del	(Likely) pathogenic	1 lab	0186502b19
12:22035805 ABCC9 C>T	12	22035805	22035805	C	T	ABCC9	c.1914G>A	NM_005691.3	NP_005682.2:p.(Gln638=)	NC_000012.11:g.22035805C>T	(Likely) benign	1 lab	6d6821cfa8
7:94043535 COL1A2 G>T	7	94043535	94043535	G	T	COL1A2	c.1667G>T	NM_000089.3	NP_000080.2:p.(Gly556Val)	NC_000007.13:g.94043535G>T	(Likely) pathogenic	1 lab	6d68ef7370
7:70251173 AUTS2 G>A	7	70251173	70251173	G	A	AUTS2	c.2308+149G>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70251173G>A	(Likely) benign	1 lab	0a74238557
5:146080667 PPP2R2B C>T	5	146080667	146080667	C	T	PPP2R2B	c.427G>A	NM_181675.3	NP_858061.2:p.(Glu143Lys)	NC_000005.9:g.146080667C>T	VUS	1 lab	6d6e1a839e
2:73717656 MISSING A>G	2	73717656	73717656	A	G	MISSING				NC_000002.11:g.73717656A>G	(Likely) benign	1 lab	6d7397c6b6
9:123715076 C5 G>A	9	123715076	123715076	G	A	C5				NC_000009.11:g.123715076G>A	(Likely) pathogenic	1 lab	6d748c4c1e
17:7217651 GPS2 TTTC>T	17	7217651	7217656	TTTC	T	GPS2	c.273_275del	NM_004489.4	NP_004480.1:p.(Lys92del)	NC_000017.10:g.7217654_7217656del	VUS	1 lab	6d7560aeda
2:136555597 LCT A>G	2	136555597	136555597	A	G	LCT	c.4976+2T>C	NM_002299.3	NP_002290.2:p.?	NC_000002.11:g.136555597A>G	(Likely) pathogenic	1 lab	6d786d198f
4:661797 PDE6B T>C	4	661797	661797	T	C	PDE6B				NC_000004.11:g.661797T>C	(Likely) pathogenic	1 lab	6d78cd7c82
2:136595706 LCT G>A	2	136595706	136595706	G	A	LCT				NC_000002.11:g.136595706G>A	(Likely) benign	1 lab	6d7be696ed
5:112102071 APC T>TC	5	112102071	112102072	T	TC	APC	c.185dup	NM_000038.6	NP_000029.2:p.(Ser63PhefsTer5)	NC_000005.9:g.112102072dup	(Likely) pathogenic	1 lab	6d7cd95d8a
15:80450510 FAH C>T	15	80450510	80450510	C	T	FAH	c.190C>T	NM_000137.2	NP_000128.1:p.(Gln64Ter)	NC_000015.9:g.80450510C>T	(Likely) pathogenic	1 lab	6d80620f8a
2:170147502 LRP2 C>G	2	170147502	170147502	C	G	LRP2	c.775G>C	NM_004525.2	NP_004516.2:p.(Gly259Arg)	NC_000002.11:g.170147502C>G	(Likely) benign	1 lab	6d81a30163
9:133951299 LAMC3 G>A	9	133951299	133951299	G	A	LAMC3	c.3576G>A	NM_006059.3	NP_006050.3:p.(Trp1192Ter)	NC_000009.11:g.133951299G>A	(Likely) pathogenic	1 lab	6d83e3cd38
10:54011355 PRKG1 G>A	10	54011355	54011355	G	A	PRKG1	c.1102G>A	NM_006258.3	NP_006249.1:p.(Ala368Thr)	NC_000010.10:g.54011355G>A	VUS	1 lab	6d89758fe6
20:52790156 CYP24A1 A>T	20	52790156	52790156	A	T	CYP24A1	c.-38T>A	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52790156A>T	(Likely) benign	1 lab	6d8beaa943
20:42744530 JPH2 C>A	20	42744530	42744530	C	A	JPH2	c.1785G>T	NM_020433.4	NP_065166.2:p.(Ala595=)	NC_000020.10:g.42744530C>A	(Likely) benign	1 lab	6d8c2d1afe
7:89934090 CFAP69 G>GAT	7	89934090	89934092	G	GAT	CFAP69	c.2222_2223dup	NM_001039706.3	NP_001034795.2:p.(Phe742IlefsTer27)	NC_000007.13:g.89934091_89934092dup	(Likely) pathogenic	1 lab	6d9105fe4b
4:77659945 SHROOM3 C>T	4	77659945	77659945	C	T	SHROOM3	c.619C>T	NM_020859.3	NP_065910.3:p.(His207Tyr)	NC_000004.11:g.77659945C>T	(Likely) benign	1 lab	6d9443d31b
3:38593036 SCN5A C>T	3	38593036	38593036	C	T	SCN5A	c.4827G>A	NM_198056.2	NP_932173.1:p.(Ser1609=)	NC_000003.11:g.38593036C>T	(Likely) benign	1 lab	6d95c4f801
15:38591712 SPRED1 C>CT	15	38591712	38591718	C	CT	SPRED1	c.177dup	NM_152594.3	NP_689807.1:p.(Ile60TyrfsTer18)	NC_000015.9:g.38591718dup	(Likely) pathogenic	1 lab	6d99f71aa1
2:9630661 ADAM17 G>A	2	9630661	9630661	G	A	ADAM17	c.2134-14C>T	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9630661G>A	(Likely) benign	1 lab	0b4bc729b5
4:140275254 NAA15 T>C	4	140275254	140275254	T	C	NAA15	c.1087+2T>C	NM_057175.4	NP_476516.1:p.?	NC_000004.11:g.140275254T>C	(Likely) pathogenic	1 lab	6d9a93353c
1:201330465 TNNT2 T>C	1	201330465	201330465	T	C	TNNT2	c.722A>G	NM_001001430.3	NP_001001430.1:p.(Tyr241Cys)	NC_000001.10:g.201330465T>C	VUS	1 lab	6d9e8af5c9
14:58943923 KIAA0586 G>A	14	58943923	58943923	G	A	KIAA0586	c.3067G>A	NM_001244189.1	NP_001231118.1:p.(Val1023Ile)	NC_000014.8:g.58943923G>A	VUS	1 lab	6d9ea142ed
6:129704396 LAMA2 A>G	6	129704396	129704396	A	G	LAMA2	c.5071+18A>G	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129704396A>G	(Likely) benign	1 lab	6da86cefb3
3:38927743 SCN11A C>A	3	38927743	38927743	C	A	SCN11A	c.2836-14G>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38927743C>A	(Likely) benign	1 lab	6da8cad8ed
7:116398763 MET C>T	7	116398763	116398763	C	T	MET	c.2264+89C>T	NM_000245.3	NP_000236.2:p.?	NC_000007.13:g.116398763C>T	(Likely) benign	1 lab	6daa4421f7
2:149226916 MBD5 T>A	2	149226916	149226916	T	A	MBD5	c.1404T>A	NM_018328.4	NP_060798.2:p.(Asp468Glu)	NC_000002.11:g.149226916T>A	VUS	1 lab	6daaeae428
11:68125236 LRP5 G>A	11	68125236	68125236	G	A	LRP5	c.607G>A	NM_002335.4	NP_002326.2:p.(Asp203Asn)	NC_000011.9:g.68125236G>A	VUS	1 lab	6dab74d852
13:32953896 BRCA2 G>A	13	32953896	32953896	G	A	BRCA2	c.8963G>A	NM_000059.3	NP_000050.2:p.(Ser2988Asn)	NC_000013.10:g.32953896G>A	VUS	1 lab	6dac6f060e
14:23897678 MYH7 G>A	14	23897678	23897678	G	A	MYH7	c.1578+31C>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23897678G>A	(Likely) benign	1 lab	6dacbd3e4e
3:37055933 MLH1 G>T	3	37055933	37055933	G	T	MLH1	c.688G>T	NM_000249.4	NP_000240.1:p.(Glu230Ter)	NC_000003.11:g.37055933G>T	(Likely) pathogenic	1 lab	6dad642fba
19:7599735 PNPLA6 A>C	19	7599735	7599735	A	C	PNPLA6	c.-96A>C	NM_006702.4	NP_006693.3:p.?	NC_000019.9:g.7599735A>C	(Likely) benign	1 lab	6db8fd195e
15:40584641 PLCB2 T>C	15	40584641	40584641	T	C	PLCB2	c.2330A>G	NM_004573.2	NP_004564.2:p.(Tyr777Cys)	NC_000015.9:g.40584641T>C	VUS	1 lab	6db92be30b
5:45396826 HCN1 T>C	5	45396826	45396826	T	C	HCN1	c.1012-14A>G	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45396826T>C	(Likely) benign	1 lab	0a7551bd40
16:2126163 TSC2 A>G	16	2126163	2126163	A	G	TSC2	c.2734A>G	NM_000548.3	NP_000539.2:p.(Ile912Val)	NC_000016.9:g.2126163A>G	VUS	1 lab	6dba6c6103
2:219526484 BCS1L C>T	2	219526484	219526484	C	T	BCS1L	c.463C>T	NM_004328.4	NP_004319.1:p.(Arg155Ter)	NC_000002.11:g.219526484C>T	(Likely) pathogenic	1 lab	6dbaf731f4
13:20763754 GJB2 G>A	13	20763754	20763754	G	A	GJB2	c.-22-12C>T	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20763754G>A	(Likely) benign	1 lab	6dc3b8dbf6
7:151878835 KMT2C T>C	7	151878835	151878835	T	C	KMT2C	c.6110A>G	NM_170606.3	NP_733751.2:p.(Asp2037Gly)	NC_000007.13:g.151878835T>C	VUS	1 lab	6dc5ff703e
8:94770714 TMEM67 G>A	8	94770714	94770714	G	A	TMEM67	c.316G>A	NM_153704.5	NP_714915.3:p.(Gly106Ser)	NC_000008.10:g.94770714G>A	VUS	1 lab	6dc7295e70
5:112179158 APC A>T	5	112179158	112179158	A	T	APC	c.7867A>T	NM_000038.5	NP_000029.2:p.(Thr2623Ser)	NC_000005.9:g.112179158A>T	(Likely) benign	1 lab	6dca0b0fff
2:179640203 TTN C>T	2	179640203	179640203	C	T	TTN	c.6388G>A	NM_001267550.2	NP_001254479.2:p.(Glu2130Lys)	NC_000002.11:g.179640203C>T	VUS	1 lab	6dcb7cb509
16:89167219 ACSF3 G>A	16	89167219	89167219	G	A	ACSF3	c.130G>A	NM_174917.3	NP_777577.2:p.(Ala44Thr)	NC_000016.9:g.89167219G>A	(Likely) benign	1 lab	6dd11fc9d0
22:42607278 TCF20 C>T	22	42607278	42607278	C	T	TCF20	c.4034G>A	NM_005650.3	NP_005641.1:p.(Arg1345Gln)	NC_000022.10:g.42607278C>T	(Likely) benign	1 lab	6dd2f4ec7b
16:74808737 FA2H C>G	16	74808737	74808737	C	G	FA2H				NC_000016.9:g.74808737C>G	(Likely) benign	1 lab	6dd3d61208
17:7805994 CHD3 G>A	17	7805994	7805994	G	A	CHD3	c.3496G>A	NM_001005271.2	NP_001005271.2:p.(Asp1166Asn)	NC_000017.10:g.7805994G>A	(Likely) pathogenic	1 lab	6dd484df79
11:103306744 DYNC2H1 G>A	11	103306744	103306744	G	A	DYNC2H1	c.12461G>A	NM_001080463.2	NP_001073932.1:p.(Arg4154His)	NC_000011.9:g.103306744G>A	VUS	1 lab	018ff2cb15
16:56906682 SLC12A3 T>C	16	56906682	56906682	T	C	SLC12A3	c.1079T>C	NM_000339.2	NP_000330.2:p.(Ile360Thr)	NC_000016.9:g.56906682T>C	VUS	1 lab	6dd882e544
11:118344404 KMT2A C>T	11	118344404	118344404	C	T	KMT2A	c.2530C>T	NM_001197104.2	NP_001184033.1:p.(Gln844Ter)	NC_000011.9:g.118344404C>T	(Likely) pathogenic	1 lab	6ddee61d57
8:144998374 PLEC C>A	8	144998374	144998374	C	A	PLEC	c.6134G>T	NM_201380.3	NP_958782.1:p.(Arg2045Leu)	NC_000008.10:g.144998374C>A	VUS	1 lab	6de03db0d1
3:38798300 SCN10A A>T	3	38798300	38798300	A	T	SCN10A	c.1155T>A	NM_006514.4	NP_006505.4:p.(Ser385=)	NC_000003.11:g.38798300A>T	(Likely) benign	1 lab	6de54b010b
10:73490214 CDH23 C>T	10	73490214	73490214	C	T	CDH23	c.3580-12C>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73490214C>T	(Likely) benign	1 lab	6de56bcf66
6:73000477 RIMS1 C>T	6	73000477	73000477	C	T	RIMS1	c.3650C>T	NM_014989.5	NP_055804.2:p.(Ser1217Leu)	NC_000006.11:g.73000477C>T	(Likely) benign	1 lab	6de6e2816b
9:35689951 TPM2 A>T	9	35689951	35689951	A	T	TPM2	c.-137T>A	NM_213674.1	NP_998839.1:p.?	NC_000009.11:g.35689951A>T	(Likely) benign	1 lab	6de79d16be
7:151329205 PRKAG2 A>G	7	151329205	151329205	A	G	PRKAG2	c.704T>C	NM_016203.3	NP_057287.2:p.(Leu235Pro)	NC_000007.13:g.151329205A>G	(Likely) benign	1 lab	6de83f90d0
4:107168423 TBCK C>CTTCA	4	107168423	107168424	C	CTTCA	TBCK	c.803_804insTGAA	NM_001163435.1	NP_001156907.1:p.(Met268IlefsTer9)	NC_000004.11:g.107168423_107168424insTTCA	(Likely) pathogenic	1 lab	6dec899ddb
2:44507915 SLC3A1 C>T	2	44507915	44507915	C	T	SLC3A1	c.491C>T	NM_000341.4	NP_000332.2:p.(Ser164Leu)	NC_000002.11:g.44507915C>T	VUS	1 lab	6def9f4131
17:17700623 RAI1 G>A	17	17700623	17700623	G	A	RAI1	c.4361G>A	NM_030665.4	NP_109590.3:p.(Gly1454Glu)	NC_000017.10:g.17700623G>A	VUS	1 lab	01977b5dd5
10:92680000 ANKRD1 G>C	10	92680000	92680000	G	C	ANKRD1	c.133C>G	NM_014391.2	NP_055206.2:p.(Leu45Val)	NC_000010.10:g.92680000G>C	VUS	1 lab	6df8ad7117
2:179440435 TTN C>T	2	179440435	179440435	C	T	TTN	c.70424G>A	NM_001267550.2	NP_001254479.2:p.(Arg23475His)	NC_000002.11:g.179440435C>T	VUS	1 lab	0198851735
13:32972736 BRCA2 T>C	13	32972736	32972736	T	C	BRCA2	c.10086T>C	NM_000059.3	NP_000050.2:p.(Phe3362=)	NC_000013.10:g.32972736T>C	(Likely) benign	1 lab	6dffe76b6a
8:143822598 SLURP1 A>C	8	143822598	143822598	A	C	SLURP1	c.275T>G	NM_020427.2	NP_065160.1:p.(Phe92Cys)	NC_000008.10:g.143822598A>C	VUS	1 lab	6e0078409d
2:179410829 TTN A>G	2	179410829	179410829	A	G	TTN	c.95134T>C	NM_001267550.2	NP_001254479.2:p.(Cys31712Arg)	NC_000002.11:g.179410829A>G	(Likely) pathogenic	1 lab	6e02847f30
11:128761338 KCNJ5 G>C	11	128761338	128761338	G	C	KCNJ5	c.-289G>C	NM_000890.4	NP_000881.3:p.?	NC_000011.9:g.128761338G>C	(Likely) benign	1 lab	6e03ef63c7
11:47365041 MYBPC3 A>C	11	47365041	47365041	A	C	MYBPC3	c.1223+2T>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365041A>C	(Likely) pathogenic	1 lab	6e08809303
9:12698551 TYRP1 G>A	9	12698551	12698551	G	A	TYRP1	c.809G>A	NM_000550.2	NP_000541.1:p.(Ser270Asn)	NC_000009.11:g.12698551G>A	(Likely) benign	1 lab	6e0a9bb0a4
11:12785858 TEAD1 A>G	11	12785858	12785858	A	G	TEAD1	c.79A>G	NM_021961.6	NP_068780.2:p.(Ile27Val)	NC_000011.9:g.12785858A>G	(Likely) benign	1 lab	6e0fa80d52
19:18180489 IL12RB1 G>A	19	18180489	18180489	G	A	IL12RB1	c.1176C>T	NM_001290024.1	NP_001276953.1:p.(Asn392=)	NC_000019.9:g.18180489G>A	(Likely) benign	1 lab	0a7871fb5e
X:48933105 WDR45 A>AGTCGT	X	48933105	48933111	A	AGTCGT	WDR45	c.743_747dup	NM_007075.3	NP_009006.2:p.(Ser250ThrfsTer40)	NC_000023.10:g.48933107_48933111dup	(Likely) pathogenic	1 lab	6e12fb354c
20:42815057 JPH2 G>T	20	42815057	42815057	G	T	JPH2	c.289C>A	NM_020433.4	NP_065166.2:p.(Arg97=)	NC_000020.10:g.42815057G>T	(Likely) benign	1 lab	6e17746e02
5:1081702 SLC12A7 A>G	5	1081702	1081702	A	G	SLC12A7	c.1287T>C	NM_006598.2	NP_006589.2:p.(Pro429=)	NC_000005.9:g.1081702A>G	(Likely) benign	1 lab	6e18baff44
10:73326694 CDH23 G>T	10	73326694	73326694	G	T	CDH23	c.624+1G>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73326694G>T	(Likely) pathogenic	1 lab	6e192e2c48
22:40674053 MISSING G>C	22	40674053	40674053	G	C	MISSING				NC_000022.10:g.40674053G>C	VUS	1 lab	6e1a4cb68a
1:201341175 TNNT2 CAG>C	1	201341175	201341178	CAG	C	TNNT2	c.53-8_53-7del	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201341177_201341178del	(Likely) benign	1 lab	6e1b772ae5
3:189586437 TP63 C>A	3	189586437	189586437	C	A	TP63	c.1061C>A	NM_003722.4	NP_003713.3:p.(Ala354Glu)	NC_000003.11:g.189586437C>A	(Likely) pathogenic	1 lab	6e1c98a1b6
16:31196273 FUS A>C	16	31196273	31196273	A	C	FUS	c.537A>C	NM_004960.3	NP_004951.1:p.(Gln179His)	NC_000016.9:g.31196273A>C	VUS	1 lab	6e1edcadbc
5:112175768 APC ACG>A	5	112175768	112175770	ACG	A	APC	c.4478_4479del	NM_000038.6	NP_000029.2:p.(Thr1493ArgfsTer20)	NC_000005.9:g.112175769_112175770del	(Likely) pathogenic	1 lab	6e1f0c8748
11:31815580 PAX6 C>T	11	31815580	31815580	C	T	PAX6	c.765G>A	NM_000280.6	NP_000271.1:p.(Gln255=)	NC_000011.9:g.31815580C>T	(Likely) pathogenic	1 lab	6e2153df44
6:76545684 MYO6 T>C	6	76545684	76545684	T	C	MYO6	c.553+11T>C	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76545684T>C	(Likely) benign	1 lab	6e21dc9b28
X:138642967 F9 C>T	X	138642967	138642967	C	T	F9	c.791C>T	NM_000133.3	NP_000124.1:p.(Thr264Ile)	NC_000023.10:g.138642967C>T	(Likely) pathogenic	1 lab	6e22638105
7:98515126 TRRAP C>T	7	98515126	98515126	C	T	TRRAP	c.2446C>T	NM_003496.3	NP_003487.1:p.(Arg816Trp)	NC_000007.13:g.98515126C>T	(Likely) pathogenic	1 lab	6e2498d8bf
7:79082361 MAGI2 G>C	7	79082361	79082361	G	C	MAGI2	c.276C>G	NM_012301.4	NP_036433.2:p.(Pro92=)	NC_000007.13:g.79082361G>C	(Likely) benign	1 lab	019acd3970
11:64577312 MEN1 A>T	11	64577312	64577312	A	T	MEN1	c.270T>A	NM_130799.2	NP_570711.1:p.(Tyr90Ter)	NC_000011.9:g.64577312A>T	(Likely) pathogenic	1 lab	6e26c952ab
16:2138252 TSC2 C>T	16	2138252	2138252	C	T	TSC2	c.5185C>T	NM_000548.5	NP_000539.2:p.(Arg1729Cys)	NC_000016.9:g.2138252C>T	VUS	1 lab	019d9204f1
22:41533772 EP300 C>T	22	41533772	41533772	C	T	EP300	c.1738C>T	NM_001429.4	NP_001420.2:p.(Arg580Ter)	NC_000022.10:g.41533772C>T	(Likely) pathogenic	1 lab	6e2b2d6fe0
15:59564536 MYO1E A>G	15	59564536	59564536	A	G	MYO1E	c.116T>C	NM_004998.3	NP_004989.2:p.(Leu39Pro)	NC_000015.9:g.59564536A>G	VUS	1 lab	6e2ddea2e0
19:41758299 AXL A>C	19	41758299	41758299	A	C	AXL	c.1755A>C	NM_021913.5	NP_068713.2:p.(Glu585Asp)	NC_000019.9:g.41758299A>C	VUS	1 lab	6e2e050f82
2:73613031 MISSING TGGAGGAGGAGGA>T	2	73613031	73613070	TGGAGGAGGAGGA	T	MISSING				NC_000002.11:g.73613059_73613070del	(Likely) benign	1 lab	6e2e14dbd6
7:6017284 PMS2 G>A	7	6017284	6017284	G	A	PMS2	c.2380C>T	NM_000535.6	NP_000526.2:p.(Pro794Ser)	NC_000007.13:g.6017284G>A	(Likely) benign	1 lab	6e305805ab
17:59878650 BRIP1 G>A	17	59878650	59878650	G	A	BRIP1	c.1104C>T	NM_032043.3	NP_114432.2:p.(Pro368=)	NC_000017.10:g.59878650G>A	(Likely) benign	1 lab	6e348eedfa
X:49062998 CACNA1F G>A	X	49062998	49062998	G	A	CACNA1F	c.5479C>T	NM_005183.3	NP_005174.2:p.(Arg1827Ter)	NC_000023.10:g.49062998G>A	(Likely) pathogenic	1 lab	6e356314ec
21:36252869 RUNX1 C>T	21	36252869	36252869	C	T	RUNX1				NC_000021.8:g.36252869C>T	VUS	1 lab	6e397246bd
12:6058298 VWF A>G	12	6058298	6058298	A	G	VWF	c.8325T>C	NM_000552.3	NP_000543.2:p.(Ser2775=)	NC_000012.11:g.6058298A>G	(Likely) benign	1 lab	6e3a6f17ab
11:118377297 KMT2A C>T	11	118377297	118377297	C	T	KMT2A	c.10690C>T	NM_001197104.1	NP_001184033.1:p.(Arg3564Trp)	NC_000011.9:g.118377297C>T	(Likely) benign	1 lab	6e3d37d250
17:41258472 BRCA1 C>A	17	41258472	41258472	C	A	BRCA1	c.212+1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258472C>A	(Likely) pathogenic	1 lab	6e3f58cbc7
16:3640274 SLX4 G>A	16	3640274	3640274	G	A	SLX4	c.3365C>T	NM_032444.4	NP_115820.2:p.(Pro1122Leu)	NC_000016.9:g.3640274G>A	(Likely) benign	1 lab	019df63ea4
14:24730978 TGM1 C>T	14	24730978	24730978	C	T	TGM1				NC_000014.8:g.24730978C>T	(Likely) pathogenic	1 lab	6e45243bb2
11:2906305 CDKN1C C>T	11	2906305	2906305	C	T	CDKN1C	c.415G>A	NM_000076.2	NP_000067.1:p.(Val139Ile)	NC_000011.9:g.2906305C>T	VUS	1 lab	019eba1167
15:72104318 NR2E3 C>T	15	72104318	72104318	C	T	NR2E3	c.373C>T	NM_014249.2	NP_055064.1:p.(Arg125Ter)	NC_000015.9:g.72104318C>T	(Likely) pathogenic	1 lab	6e4b71e0b0
4:187201383 F11 G>C	4	187201383	187201383	G	C	F11	c.872G>C	NM_000128.3	NP_000119.1:p.(Cys291Ser)	NC_000004.11:g.187201383G>C	VUS	1 lab	6e4f7bdb86
21:45705936 AIRE C>G	21	45705936	45705936	C	G	AIRE	c.47C>G	NM_000383.3	NP_000374.1:p.(Thr16Arg)	NC_000021.8:g.45705936C>G	(Likely) pathogenic	1 lab	6e4fd9c996
2:179406125 TTN C>T	2	179406125	179406125	C	T	TTN	c.97679G>A	NM_001267550.2	NP_001254479.2:p.(Arg32560His)	NC_000002.11:g.179406125C>T	VUS	1 lab	01a5925125
X:107834365 COL4A5 G>A	X	107834365	107834365	G	A	COL4A5	c.1243G>A	NM_033380.2	NP_203699.1:p.(Gly415Arg)	NC_000023.10:g.107834365G>A	(Likely) pathogenic	1 lab	6e51a449b0
6:31978746 TNXA G>A	6	31978746	31978746	G	A	TNXA	n.1384+17C>T	NR_001284.2		NC_000006.11:g.31978746G>A	(Likely) benign	1 lab	01a6404d87
9:139418342 NOTCH1 A>C	9	139418342	139418342	A	C	NOTCH1	c.230T>G	NM_017617.4	NP_060087.3:p.(Val77Gly)	NC_000009.11:g.139418342A>C	(Likely) benign	1 lab	6e530f3245
2:225422572 CUL3 A>G	2	225422572	225422572	A	G	CUL3	c.68T>C	NM_003590.5	NP_003581.1:p.(Met23Thr)	NC_000002.11:g.225422572A>G	VUS	1 lab	6e568ba69b
1:179851776 TOR1AIP1 ACTC>A	1	179851776	179851783	ACTC	A	TOR1AIP1	c.144_146del	NM_001267578.1	NP_001254507.1:p.(Pro49del)	NC_000001.10:g.179851781_179851783del	VUS	1 lab	6e5720f656
19:38937352 RYR1 G>C	19	38937352	38937352	G	C	RYR1	c.744G>C	NM_000540.2	NP_000531.2:p.(Gly248=)	NC_000019.9:g.38937352G>C	(Likely) benign	1 lab	6e5845d082
2:170019059 LRP2 T>C	2	170019059	170019059	T	C	LRP2	c.11810A>G	NM_004525.3	NP_004516.2:p.(Asn3937Ser)	NC_000002.11:g.170019059T>C	VUS	1 lab	6e5db4a01e
22:36690299 MYH9 G>A	22	36690299	36690299	G	A	MYH9	c.3676C>T	NM_002473.6	NP_002464.1:p.(Arg1226Trp)	NC_000022.10:g.36690299G>A	(Likely) benign	1 lab	01ab742c43
17:59820387 BRIP1 A>G	17	59820387	59820387	A	G	BRIP1	c.2366T>C	NM_032043.3	NP_114432.2:p.(Val789Ala)	NC_000017.10:g.59820387A>G	VUS	1 lab	6e6036cf15
10:105799237 COL17A1 GC>G	10	105799237	105799239	GC	G	COL17A1	c.2861del	NM_000494.4	NP_000485.3:p.(Gly954AlafsTer112)	NC_000010.10:g.105799239del	(Likely) pathogenic	1 lab	01abc0737c
6:105259265 HACE1 C>T	6	105259265	105259265	C	T	HACE1	c.538G>A	NM_020771.4	NP_065822.2:p.(Val180Met)	NC_000006.11:g.105259265C>T	VUS	1 lab	6e61a205af
5:67576756 PIK3R1 T>C	5	67576756	67576756	T	C	PIK3R1	c.838T>C	NM_181523.3	NP_852664.1:p.(Ser280Pro)	NC_000005.9:g.67576756T>C	VUS	1 lab	01ac1bf3bb
16:3781777 CREBBP C>T	16	3781777	3781777	C	T	CREBBP	c.4890G>A	NM_004380.3	NP_004371.2:p.(Glu1630=)	NC_000016.9:g.3781777C>T	VUS	1 lab	6e6376db77
1:196973934 CFHR5 T>C	1	196973934	196973934	T	C	CFHR5	c.1474T>C	NM_030787.3	NP_110414.1:p.(Cys492Arg)	NC_000001.10:g.196973934T>C	VUS	1 lab	6e649b262a
14:91739616 CCDC88C G>A	14	91739616	91739616	G	A	CCDC88C	c.5440C>T	NM_001080414.4	NP_001073883.2:p.(Arg1814Trp)	NC_000014.8:g.91739616G>A	VUS	1 lab	01afedfc45
21:47986496 DIP2A G>A	21	47986496	47986496	G	A	DIP2A	c.4363G>A	NM_015151.3	NP_055966.2:p.(Val1455Ile)	NC_000021.8:g.47986496G>A	VUS	1 lab	6e680523a6
2:48028254 MSH6 C>G	2	48028254	48028254	C	G	MSH6	c.3132C>G	NM_000179.2	NP_000170.1:p.(Tyr1044Ter)	NC_000002.11:g.48028254C>G	(Likely) pathogenic	1 lab	6e69a4581d
8:124373812 ATAD2 C>T	8	124373812	124373812	C	T	ATAD2	c.1124G>A	NM_014109.3	NP_054828.2:p.(Arg375Gln)	NC_000008.10:g.124373812C>T	VUS	1 lab	6e6d1ff98e
6:74176048 MTO1 A>G	6	74176048	74176048	A	G	MTO1	c.334A>G	NM_012123.4	NP_036255.2:p.(Lys112Glu)	NC_000006.11:g.74176048A>G	VUS	1 lab	6e6dbcffbb
14:23884750 MYH7 G>A	14	23884750	23884750	G	A	MYH7	c.5158-35C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23884750G>A	(Likely) benign	1 lab	6e6f8af405
11:2187071 TH T>C	11	2187071	2187071	T	C	TH	c.1198-78A>G	NM_199292.2	NP_954986.2:p.?	NC_000011.9:g.2187071T>C	(Likely) benign	1 lab	6e6ffac137
X:154005239 DKC1 A>G	X	154005239	154005239	A	G	DKC1	c.*97A>G	NM_001363.4	NP_001354.1:p.?	NC_000023.10:g.154005239A>G	(Likely) benign	1 lab	6e91de5d92
3:37090506 MLH1 C>A	3	37090506	37090506	C	A	MLH1	c.2101C>A	NM_000249.3	NP_000240.1:p.(Gln701Lys)	NC_000003.11:g.37090506C>A	(Likely) benign	1 lab	6e730a8b5d
19:36333453 NPHS1 C>T	19	36333453	36333453	C	T	NPHS1	c.2335-1G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36333453C>T	(Likely) pathogenic	1 lab	6e74c1af8e
9:140094605 TPRN C>A	9	140094605	140094605	C	A	TPRN	c.559G>T	NM_001128228.2	NP_001121700.2:p.(Ala187Ser)	NC_000009.11:g.140094605C>A	(Likely) benign	1 lab	6e787eb49a
2:47630319 MSH2 G>T	2	47630319	47630319	G	T	MSH2	c.-12G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47630319G>T	(Likely) benign	1 lab	6e7cd6e207
7:66459273 TYW1 T>A	7	66459273	66459273	T	A	TYW1				NC_000007.13:g.66459273T>A	(Likely) pathogenic	1 lab	6e7d75185f
16:23641291 PALB2 G>T	16	23641291	23641291	G	T	PALB2	c.2184C>A	NM_024675.4	NP_078951.2:p.(Phe728Leu)	NC_000016.9:g.23641291G>T	VUS	1 lab	6e81c284fd
1:241665855 FH G>A	1	241665855	241665855	G	A	FH	c.1124C>T	NM_000143.3	NP_000134.2:p.(Thr375Ile)	NC_000001.10:g.241665855G>A	(Likely) pathogenic	1 lab	6e84045fe7
3:14176345 TMEM43 G>A	3	14176345	14176345	G	A	TMEM43	c.659G>A	NM_024334.2	NP_077310.1:p.(Arg220His)	NC_000003.11:g.14176345G>A	VUS	1 lab	6e851b76e1
17:41246745 BRCA1 T>C	17	41246745	41246745	T	C	BRCA1	c.803A>G	NM_007294.4	NP_009225.1:p.(Asn268Ser)	NC_000017.10:g.41246745T>C	VUS	1 lab	01b242512b
18:19437156 MIB1 AT>A	18	19437156	19437158	AT	A	MIB1	c.2733del	NM_020774.4	NP_065825.1:p.(Met912CysfsTer56)	NC_000018.9:g.19437158del	VUS	1 lab	6e86ff364b
17:10533150 MYH3 C>T	17	10533150	10533150	C	T	MYH3	c.5658+9G>A	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10533150C>T	(Likely) benign	1 lab	0a88ed5e36
10:104353391 SUFU A>T	10	104353391	104353391	A	T	SUFU	c.598-2A>T	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104353391A>T	(Likely) pathogenic	1 lab	6e92d7ea88
7:98581949 TRRAP G>T	7	98581949	98581949	G	T	TRRAP	c.9181G>T	NM_003496.4	NP_003487.1:p.(Ala3061Ser)	NC_000007.13:g.98581949G>T	VUS	1 lab	01b30282c0
19:50779427 MYH14 C>T	19	50779427	50779427	C	T	MYH14	c.3647C>T	NM_001145809.1	NP_001139281.1:p.(Thr1216Met)	NC_000019.9:g.50779427C>T	(Likely) benign	1 lab	6e94d5ebc5
7:26779515 SKAP2 G>A	7	26779515	26779515	G	A	SKAP2	c.376C>T	NM_003930.5	NP_003921.2:p.(Arg126Cys)	NC_000007.13:g.26779515G>A	VUS	1 lab	0a89e07db1
5:112175108 APC A>T	5	112175108	112175108	A	T	APC	c.3817A>T	NM_000038.6	NP_000029.2:p.(Arg1273Ter)	NC_000005.9:g.112175108A>T	(Likely) pathogenic	1 lab	6e9855cf62
15:43908408 STRC AG>A	15	43908408	43908413	AG	A	STRC	c.1355del	NM_153700.2	NP_714544.1:p.(Pro452LeufsTer84)	NC_000015.9:g.43908413del	(Likely) pathogenic	1 lab	6e9901f3cf
7:117243762 CFTR C>T	7	117243762	117243762	C	T	CFTR	c.2834C>T	NM_000492.3	NP_000483.3:p.(Ser945Leu)	NC_000007.13:g.117243762C>T	(Likely) pathogenic	1 lab	6e9a497a8b
X:41203577 DDX3X G>A	X	41203577	41203577	G	A	DDX3X	c.950G>A	NM_001356.4	NP_001347.3:p.(Cys317Tyr)	NC_000023.10:g.41203577G>A	(Likely) pathogenic	1 lab	6e9ad53c46
9:98268883 PTCH1 T>G	9	98268883	98268883	T	G	PTCH1	c.202-2A>C	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98268883T>G	(Likely) pathogenic	1 lab	6e9cc89a7a
4:187524714 FAT1 C>T	4	187524714	187524714	C	T	FAT1	c.10966G>A	NM_005245.4	NP_005236.2:p.(Val3656Ile)	NC_000004.11:g.187524714C>T	(Likely) benign	1 lab	0a8aff6d36
20:57599515 TUBB1 A>T	20	57599515	57599515	A	T	TUBB1	c.1033A>T	NM_030773.4	NP_110400.1:p.(Ile345Phe)	NC_000020.10:g.57599515A>T	VUS	1 lab	6e9e7e04c9
X:21627339 CNKSR2 C>T	X	21627339	21627339	C	T	CNKSR2	c.2296C>T	NM_014927.3	NP_055742.2:p.(Arg766Cys)	NC_000023.10:g.21627339C>T	VUS	1 lab	6ea1ea4dae
3:51386314 DOCK3 A>T	3	51386314	51386314	A	T	DOCK3	c.3947A>T	NM_004947.5	NP_004938.1:p.(Glu1316Val)	NC_000003.11:g.51386314A>T	VUS	1 lab	01b5d7f802
7:16415754 CRPPA G>T	7	16415754	16415754	G	T	CRPPA	c.647C>A	NM_001101426.3	NP_001094896.1:p.(Ala216Asp)	NC_000007.13:g.16415754G>T	(Likely) pathogenic	1 lab	6ea7993a76
5:138269484 CTNNA1 C>T	5	138269484	138269484	C	T	CTNNA1	c.2434-7C>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138269484C>T	(Likely) benign	1 lab	6ea8eb1705
1:43394881 SLC2A1 C>T	1	43394881	43394881	C	T	SLC2A1	c.972G>A	NM_006516.2	NP_006507.2:p.(Ser324=)	NC_000001.10:g.43394881C>T	VUS	1 lab	6eb4cdc671
6:26027433 H4C2 G>A	6	26027433	26027433	G	A	H4C2	c.48C>T	NM_003544.3	NP_003535.1:p.(Ala16=)	NC_000006.11:g.26027433G>A	(Likely) benign	1 lab	01b8e36f05
5:134366978 PITX1 C>G	5	134366978	134366978	C	G	PITX1	c.390G>C	NM_002653.4	NP_002644.4:p.(Glu130Asp)	NC_000005.9:g.134366978C>G	VUS	1 lab	6eb5853357
13:101763027 NALCN A>C	13	101763027	101763027	A	C	NALCN	c.2307T>G	NM_052867.4	NP_443099.1:p.(His769Gln)	NC_000013.10:g.101763027A>C	VUS	1 lab	01ba712939
13:20763123 GJB2 C>A	13	20763123	20763123	C	A	GJB2	c.598G>T	NM_004004.5	NP_003995.2:p.(Gly200Ter)	NC_000013.10:g.20763123C>A	(Likely) pathogenic	1 lab	6eb6fb6a63
10:75849867 VCL A>G	10	75849867	75849867	A	G	VCL	c.1263A>G	NM_014000.2	NP_054706.1:p.(Leu421=)	NC_000010.10:g.75849867A>G	(Likely) benign	1 lab	6ebbabb988
12:23689511 SOX5 C>T	12	23689511	23689511	C	T	SOX5	c.1864G>A	NM_006940.6	NP_008871.3:p.(Asp622Asn)	NC_000012.11:g.23689511C>T	(Likely) benign	1 lab	6ebe212e47
1:2341867 PEX10 T>C	1	2341867	2341867	T	C	PEX10	c.136A>G	NM_153818.2	NP_722540.1:p.(Arg46Gly)	NC_000001.10:g.2341867T>C	VUS	1 lab	01bd42b9f8
12:25398251 KRAS A>C	12	25398251	25398251	A	C	KRAS	c.68T>G	NM_033360.3	NP_203524.1:p.(Leu23Arg)	NC_000012.11:g.25398251A>C	(Likely) pathogenic	1 lab	6ec06f22ef
2:228172375 COL4A3 G>A	2	228172375	228172375	G	A	COL4A3	c.4253-51G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228172375G>A	(Likely) benign	1 lab	6ec356f143
12:13906757 GRIN2B G>T	12	13906757	13906757	G	T	GRIN2B	c.504C>A	NM_000834.3	NP_000825.2:p.(Ile168=)	NC_000012.11:g.13906757G>T	(Likely) benign	1 lab	6ec78de61c
11:76871314 MYO7A G>A	11	76871314	76871314	G	A	MYO7A	c.1186G>A	NM_000260.3	NP_000251.3:p.(Asp396Asn)	NC_000011.9:g.76871314G>A	VUS	1 lab	6ecc3e58d7
X:10427779 MID1 C>T	X	10427779	10427779	C	T	MID1	c.1354G>A	NM_000381.3	NP_000372.1:p.(Gly452Ser)	NC_000023.10:g.10427779C>T	(Likely) pathogenic	1 lab	6ecf21f8eb
2:179594231 TTN GC>G	2	179594231	179594232	GC	G	TTN	c.14919del	NM_133378.4	NP_596869.4:p.(Glu4973AspfsTer17)	NC_000002.11:g.179594232del	(Likely) pathogenic	1 lab	6ecfa3cbfb
13:52542579 ATP7B C>T	13	52542579	52542579	C	T	ATP7B	c.1707+1G>A	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52542579C>T	(Likely) pathogenic	1 lab	0a8fdea263
2:227924360 COL4A4 A>AT	2	227924360	227924365	A	AT	COL4A4	c.2165-22dup	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924365dup	(Likely) benign	1 lab	6ed19cf2d8
1:45798129 MUTYH C>T	1	45798129	45798129	C	T	MUTYH	c.722G>A	NM_001128425.1	NP_001121897.1:p.(Arg241Gln)	NC_000001.10:g.45798129C>T	(Likely) pathogenic	1 lab	6ed2dbdf73
1:39919465 MACF1 C>T	1	39919465	39919465	C	T	MACF1	c.14652C>T	NM_012090.5	NP_036222.3:p.(Pro4884=)	NC_000001.10:g.39919465C>T	(Likely) benign	1 lab	01c10d8b12
17:29683571 NF1 GGA>G	17	29683571	29683576	GGA	G	NF1	c.7713_7714del	NM_001042492.3	NP_001035957.1:p.(Arg2571SerfsTer5)	NC_000017.10:g.29683575_29683576del	(Likely) pathogenic	1 lab	6ed6349b8f
4:2831774 SH3BP2 G>A	4	2831774	2831774	G	A	SH3BP2	c.1141G>A	NM_003023.4	NP_003014.3:p.(Val381Met)	NC_000004.11:g.2831774G>A	(Likely) benign	1 lab	01c453cf04
3:178948073 PIK3CA C>T	3	178948073	178948073	C	T	PIK3CA	c.2845C>T	NM_006218.3	NP_006209.2:p.(Arg949Ter)	NC_000003.11:g.178948073C>T	VUS	1 lab	6ed6ed36e8
11:2190899 TH C>T	11	2190899	2190899	C	T	TH	c.386G>A	NM_199292.3	NP_954986.2:p.(Arg129Gln)	NC_000011.9:g.2190899C>T	VUS	1 lab	01c7644c53
7:21658796 DNAH11 C>T	7	21658796	21658796	C	T	DNAH11	c.4333C>T	NM_001277115.2	NP_001264044.1:p.(Arg1445Ter)	NC_000007.13:g.21658796C>T	(Likely) pathogenic	1 lab	6ee228d1a6
8:41571963 ANK1 A>T	8	41571963	41571963	A	T	ANK1	c.1702-191T>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41571963A>T	(Likely) benign	1 lab	0a917d1e27
X:153297682 MECP2 C>T	X	153297682	153297682	C	T	MECP2	c.353G>A	NM_004992.3	NP_004983.1:p.(Gly118Glu)	NC_000023.10:g.153297682C>T	(Likely) pathogenic	1 lab	0a97db1ddb
11:118047095 SCN2B T>C	11	118047095	118047095	T	C	SCN2B	c.52A>G	NM_004588.4	NP_004579.1:p.(Ser18Gly)	NC_000011.9:g.118047095T>C	(Likely) benign	1 lab	6ee7a6c346
17:7918815 GUCY2D A>C	17	7918815	7918815	A	C	GUCY2D	c.2939A>C	NM_000180.3	NP_000171.1:p.(His980Pro)	NC_000017.10:g.7918815A>C	VUS	1 lab	6ee8de8a66
9:20885231 FOCAD T>C	9	20885231	20885231	T	C	FOCAD	c.2625+2T>C	NM_017794.4	NP_060264.4:p.?	NC_000009.11:g.20885231T>C	VUS	1 lab	6eeac02b79
19:7132211 INSR C>T	19	7132211	7132211	C	T	INSR	c.2800G>A	NM_000208.4	NP_000199.2:p.(Gly934Ser)	NC_000019.9:g.7132211C>T	VUS	1 lab	01c9b6727d
19:50905869 POLD1 G>T	19	50905869	50905869	G	T	POLD1	c.841G>T	NM_002691.4	NP_002682.2:p.(Ala281Ser)	NC_000019.9:g.50905869G>T	VUS	1 lab	037df3b6cb
6:135769570 AHI1 C>T	6	135769570	135769570	C	T	AHI1	c.1484G>A	NM_017651.4	NP_060121.3:p.(Arg495His)	NC_000006.11:g.135769570C>T	(Likely) pathogenic	1 lab	6eebbe4016
2:179481351 TTN G>A	2	179481351	179481351	G	A	TTN	c.48167C>T	NM_001267550.2	NP_001254479.2:p.(Pro16056Leu)	NC_000002.11:g.179481351G>A	VUS	1 lab	6eee913718
3:38926923 SCN11A C>A	3	38926923	38926923	C	A	SCN11A	c.2950-30G>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38926923C>A	(Likely) benign	1 lab	6eef601fe0
2:179593445 TTN G>T	2	179593445	179593445	G	T	TTN				NC_000002.11:g.179593445G>T	VUS	1 lab	6ef0ac931d
14:23900786 MYH7 C>G	14	23900786	23900786	C	G	MYH7	c.732+8G>C	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23900786C>G	(Likely) benign	1 lab	6ef0e44d85
6:33139540 COL11A2 G>A	6	33139540	33139540	G	A	COL11A2	c.3100C>T	NM_080680.2	NP_542411.2:p.(Arg1034Cys)	NC_000006.11:g.33139540G>A	(Likely) pathogenic	1 lab	6ef148e9c7
14:23893294 MYH7 A>G	14	23893294	23893294	A	G	MYH7	c.2744T>C	NM_000257.4	NP_000248.2:p.(Leu915Pro)	NC_000014.8:g.23893294A>G	(Likely) pathogenic	1 lab	01cdf33ce8
2:179639667 TTN A>G	2	179639667	179639667	A	G	TTN	c.6771T>C	NM_133379.4	NP_596870.2:p.(Thr2257=)	NC_000002.11:g.179639667A>G	(Likely) benign	1 lab	6ef2c1dec2
12:6121257 VWF T>G	12	6121257	6121257	T	G	VWF	c.5660A>C	NM_000552.3	NP_000543.2:p.(Lys1887Thr)	NC_000012.11:g.6121257T>G	VUS	1 lab	6ef4e104ec
14:75515479 MLH3 G>C	14	75515479	75515479	G	C	MLH3	c.880C>G	NM_001040108.2	NP_001035197.1:p.(Leu294Val)	NC_000014.8:g.75515479G>C	(Likely) benign	1 lab	01cfb97f5a
2:167108326 SCN9A C>T	2	167108326	167108326	C	T	SCN9A	c.3388G>A	NM_002977.3	NP_002968.1:p.(Ala1130Thr)	NC_000002.11:g.167108326C>T	(Likely) benign	1 lab	6ef9136387
1:45797924 MUTYH T>C	1	45797924	45797924	T	C	MUTYH	c.847A>G	NM_001128425.1	NP_001121897.1:p.(Met283Val)	NC_000001.10:g.45797924T>C	(Likely) pathogenic	1 lab	6f020b4cb6
12:110778507 ATP2A2 C>T	12	110778507	110778507	C	T	ATP2A2	c.1805C>T	NM_001681.3	NP_001672.1:p.(Pro602Leu)	NC_000012.11:g.110778507C>T	(Likely) pathogenic	1 lab	6f058b404e
11:47354852 MYBPC3 T>C	11	47354852	47354852	T	C	MYBPC3	c.3223A>G	NM_000256.3	NP_000247.2:p.(Thr1075Ala)	NC_000011.9:g.47354852T>C	(Likely) benign	1 lab	0a9fb153f1
6:29913074 HLA-A A>G	6	29913074	29913074	A	G	HLA-A	c.1093+16A>G	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29913074A>G	(Likely) benign	1 lab	01d1ba5453
14:65233900 SPTB G>A	14	65233900	65233900	G	A	SPTB	c.6269+121C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65233900G>A	(Likely) benign	1 lab	0aa2198fe0
X:30327158 NR0B1 G>T	X	30327158	30327158	G	T	NR0B1	c.323C>A	NM_000475.4	NP_000466.2:p.(Ser108Ter)	NC_000023.10:g.30327158G>T	(Likely) pathogenic	1 lab	6f16a18f3b
12:6127891 VWF C>A	12	6127891	6127891	C	A	VWF	c.4693G>T	NM_000552.3	NP_000543.2:p.(Val1565Leu)	NC_000012.11:g.6127891C>A	(Likely) benign	1 lab	6f17e4547b
3:38946687 SCN11A C>T	3	38946687	38946687	C	T	SCN11A	c.1599G>A	NM_014139.2	NP_054858.2:p.(Met533Ile)	NC_000003.11:g.38946687C>T	VUS	1 lab	6f188650ac
4:1803307 FGFR3 T>C	4	1803307	1803307	T	C	FGFR3	c.616-40T>C	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1803307T>C	(Likely) benign	1 lab	6f196e860b
6:26093461 HFE G>A	6	26093461	26093461	G	A	HFE	c.1006+1G>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26093461G>A	(Likely) pathogenic	1 lab	6f1af29a7e
16:75573884 TMEM231 T>C	16	75573884	75573884	T	C	TMEM231	n.1125A>G	NR_074083.2		NC_000016.9:g.75573884T>C	(Likely) benign	1 lab	01d29e21a0
11:76922868 MYO7A C>T	11	76922868	76922868	C	T	MYO7A	c.6240C>T	NM_000260.3	NP_000251.3:p.(Ser2080=)	NC_000011.9:g.76922868C>T	(Likely) benign	1 lab	6f1b72e9eb
6:65098704 EYS A>T	6	65098704	65098704	A	T	EYS	c.5957T>A	NM_001142800.1	NP_001136272.1:p.(Leu1986Gln)	NC_000006.11:g.65098704A>T	VUS	1 lab	6f1bf417f9
15:36946303 CDIN1 C>G	15	36946303	36946303	C	G	CDIN1	c.217C>G	NM_001130010.1	NP_001123482.1:p.(Leu73Val)	NC_000015.9:g.36946303C>G	(Likely) benign	1 lab	6f1d28447e
3:38768220 SCN10A G>A	3	38768220	38768220	G	A	SCN10A	c.2964C>T	NM_006514.3	NP_006505.3:p.(Ile988=)	NC_000003.11:g.38768220G>A	(Likely) benign	1 lab	6f1dbe3ff4
1:17380653 SDHB C>A	1	17380653	17380653	C	A	SDHB	c.-139G>T	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17380653C>A	(Likely) benign	1 lab	0aa28dcb71
6:79657383 PHIP A>G	6	79657383	79657383	A	G	PHIP	c.4163T>C	NM_017934.7	NP_060404.4:p.(Ile1388Thr)	NC_000006.11:g.79657383A>G	(Likely) pathogenic	1 lab	6f1f137b0f
3:3170886 TRNT1 A>G	3	3170886	3170886	A	G	TRNT1	c.148+14A>G	NM_182916.3	NP_886552.3:p.?	NC_000003.11:g.3170886A>G	(Likely) benign	1 lab	0aa42bf4d8
16:27761130 KATNIP C>T	16	27761130	27761130	C	T	KATNIP	c.2849C>T	NM_015202.3	NP_056017.3:p.(Ser950Leu)	NC_000016.9:g.27761130C>T	(Likely) benign	1 lab	0aa59ff2d8
2:179494984 TTN G>A	2	179494984	179494984	G	A	TTN	c.44265C>T	NM_001267550.2	NP_001254479.2:p.(Ala14755=)	NC_000002.11:g.179494984G>A	(Likely) benign	1 lab	6f2300aea1
3:38748883 SCN10A A>G	3	38748883	38748883	A	G	SCN10A	c.4282-9T>C	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38748883A>G	(Likely) benign	1 lab	6f23b93a69
X:22095748 PHEX A>G	X	22095748	22095748	A	G	PHEX	c.591A>G	NM_000444.6	NP_000435.3:p.(Gln197=)	NC_000023.10:g.22095748A>G	(Likely) pathogenic	1 lab	6f2af99432
12:6078408 VWF C>T	12	6078408	6078408	C	T	VWF	c.7698G>A	NM_000552.3	NP_000543.2:p.(Lys2566=)	NC_000012.11:g.6078408C>T	(Likely) benign	1 lab	6f2d6e8159
17:3421934 TRPV3 A>G	17	3421934	3421934	A	G	TRPV3	c.2021T>C	NM_145068.4	NP_659505.1:p.(Ile674Thr)	NC_000017.10:g.3421934A>G	(Likely) pathogenic	1 lab	01d4c992d1
19:860780 CFD G>T	19	860780	860780	G	T	CFD	c.212+7G>T	NM_001928.2	NP_001919.2:p.?	NC_000019.9:g.860780G>T	(Likely) benign	1 lab	89c06ccacb
12:48368020 COL2A1 G>GTGA	12	48368020	48368025	G	GTGA	COL2A1	c.4166_4168dup	NM_001844.5	NP_001835.3:p.(Ile1389dup)	NC_000012.11:g.48368023_48368025dup	(Likely) pathogenic	1 lab	01da914a66
X:41333808 NYX G>A	X	41333808	41333808	G	A	NYX	c.1102G>A	NM_022567.2	NP_072089.1:p.(Val368Met)	NC_000023.10:g.41333808G>A	VUS	1 lab	6f3321ae98
17:59858356 BRIP1 CA>C	17	59858356	59858357	CA	C	BRIP1	c.1638del	NM_032043.3	NP_114432.2:p.(Asp546GlufsTer44)	NC_000017.10:g.59858357del	(Likely) pathogenic	1 lab	6f33b3e33d
10:73558134 CDH23 G>T	10	73558134	73558134	G	T	CDH23	c.6853G>T	NM_022124.5	NP_071407.4:p.(Asp2285Tyr)	NC_000010.10:g.73558134G>T	VUS	1 lab	6f3432f4a7
20:42747145 JPH2 C>T	20	42747145	42747145	C	T	JPH2	c.1288G>A	NM_020433.4	NP_065166.2:p.(Gly430Ser)	NC_000020.10:g.42747145C>T	VUS	1 lab	6f39622006
11:101362368 TRPC6 A>C	11	101362368	101362368	A	C	TRPC6	c.1047T>G	NM_004621.6	NP_004612.2:p.(Asp349Glu)	NC_000011.9:g.101362368A>C	VUS	1 lab	6f3d588094
16:14647991 PARN G>A	16	14647991	14647991	G	A	PARN	c.1336C>T	NM_002582.4	NP_002573.1:p.(His446Tyr)	NC_000016.9:g.14647991G>A	VUS	1 lab	6f3e999bf1
7:73471712 ELN G>T	7	73471712	73471712	G	T	ELN	c.1358G>T	NM_001278939.1	NP_001265868.1:p.(Gly453Val)	NC_000007.13:g.73471712G>T	VUS	1 lab	6f3f1e34ff
1:17349144 SDHB G>A	1	17349144	17349144	G	A	SDHB	c.724C>T	NM_003000.3	NP_002991.2:p.(Arg242Cys)	NC_000001.10:g.17349144G>A	(Likely) pathogenic	1 lab	6f3fc9e0b8
7:128640530 TNPO3 G>A	7	128640530	128640530	G	A	TNPO3	c.964C>T	NM_012470.3	NP_036602.1:p.(Arg322Ter)	NC_000007.13:g.128640530G>A	VUS	1 lab	6f63f13f9e
17:42937885 EFTUD2 G>A	17	42937885	42937885	G	A	EFTUD2	c.1634C>T	NM_004247.4	NP_004238.3:p.(Pro545Leu)	NC_000017.10:g.42937885G>A	VUS	1 lab	01dd1fcc95
3:38797260 SCN10A A>T	3	38797260	38797260	A	T	SCN10A	c.1461+19T>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38797260A>T	(Likely) benign	1 lab	6f41ec4ff8
7:6042220 PMS2 C>T	7	6042220	6042220	C	T	PMS2	c.401G>A	NM_000535.7	NP_000526.2:p.(Arg134Gln)	NC_000007.13:g.6042220C>T	VUS	1 lab	6f459b0cfe
1:197447037 CRB1 T>C	1	197447037	197447037	T	C	CRB1	c.*28T>C	NM_201253.2	NP_957705.1:p.?	NC_000001.10:g.197447037T>C	(Likely) benign	1 lab	6f4bd9ffc0
15:78786319 IREB2 C>T	15	78786319	78786319	C	T	IREB2	c.2393C>T	NM_004136.2	NP_004127.1:p.(Thr798Ile)	NC_000015.9:g.78786319C>T	VUS	1 lab	6f4c7227b7
10:75878214 VCL G>C	10	75878214	75878214	G	C	VCL	c.*287G>C	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75878214G>C	(Likely) benign	1 lab	6f4d66b369
8:61654344 CHD7 G>A	8	61654344	61654344	G	A	CHD7	c.353G>A	NM_017780.4	NP_060250.2:p.(Ser118Asn)	NC_000008.10:g.61654344G>A	VUS	1 lab	01dd9aaf33
18:42530233 SETBP1 G>A	18	42530233	42530233	G	A	SETBP1	c.928G>A	NM_015559.3	NP_056374.2:p.(Gly310Arg)	NC_000018.9:g.42530233G>A	VUS	1 lab	01ddb04221
10:92675983 ANKRD1 A>G	10	92675983	92675983	A	G	ANKRD1	c.596T>C	NM_014391.3	NP_055206.2:p.(Leu199Pro)	NC_000010.10:g.92675983A>G	VUS	1 lab	6f58c6a444
X:38160625 RPGR C>A	X	38160625	38160625	C	A	RPGR	c.935-1G>T	NM_001034853.2	NP_001030025.1:p.?	NC_000023.10:g.38160625C>A	(Likely) pathogenic	1 lab	6f58cb77a9
7:112096972 IFRD1 G>A	7	112096972	112096972	G	A	IFRD1	c.288G>A	NM_001550.4	NP_001541.2:p.(Ala96=)	NC_000007.13:g.112096972G>A	(Likely) benign	1 lab	01de3dc358
19:1632048 TCF3 G>A	19	1632048	1632048	G	A	TCF3	c.287C>T	NM_003200.5	NP_003191.1:p.(Pro96Leu)	NC_000019.9:g.1632048G>A	(Likely) benign	1 lab	01e2a48ab0
3:37045965 MLH1 G>C	3	37045965	37045965	G	C	MLH1	c.380G>C	NM_000249.3	NP_000240.1:p.(Arg127Thr)	NC_000003.11:g.37045965G>C	(Likely) pathogenic	1 lab	6f6140fb7b
16:56902236 SLC12A3 G>A	16	56902236	56902236	G	A	SLC12A3	c.457G>A	NM_000339.2	NP_000330.2:p.(Val153Met)	NC_000016.9:g.56902236G>A	(Likely) pathogenic	1 lab	6f65e17410
2:166897778 SCN1A G>A	2	166897778	166897778	G	A	SCN1A				NC_000002.11:g.166897778G>A	(Likely) pathogenic	1 lab	6f6723e211
12:52163643 SCN8A C>T	12	52163643	52163643	C	T	SCN8A	c.3373-9C>T	NM_014191.3	NP_055006.1:p.?	NC_000012.11:g.52163643C>T	(Likely) benign	1 lab	6f689907a6
3:38986928 SCN11A G>A	3	38986928	38986928	G	A	SCN11A	c.462C>T	NM_001349253.2	NP_001336182.1:p.(Ser154=)	NC_000003.11:g.38986928G>A	(Likely) benign	1 lab	6f68be3afb
14:31355477 COCH A>G	14	31355477	31355477	A	G	COCH	c.1436A>G	NM_004086.2	NP_004077.1:p.(Tyr479Cys)	NC_000014.8:g.31355477A>G	VUS	1 lab	6f6cde9363
6:133783612 EYA4 T>TA	6	133783612	133783613	T	TA	EYA4	c.578dup	NM_001301013.1	NP_001287942.1:p.(Tyr193Ter)	NC_000006.11:g.133783613dup	(Likely) pathogenic	1 lab	6f6dcaa184
7:116340309 MET G>A	7	116340309	116340309	G	A	MET	c.1171G>A	NM_001127500.1	NP_001120972.1:p.(Gly391Arg)	NC_000007.13:g.116340309G>A	VUS	1 lab	6f6debfc3d
1:112525306 KCND3 C>T	1	112525306	112525306	C	T	KCND3	c.43G>A	NM_004980.4	NP_004971.2:p.(Ala15Thr)	NC_000001.10:g.112525306C>T	VUS	1 lab	6f6ff4c131
X:32632423 DMD A>T	X	32632423	32632423	A	T	DMD	c.1479T>A	NM_004006.3	NP_003997.2:p.(His493Gln)	NC_000023.10:g.32632423A>T	(Likely) benign	1 lab	6f72817541
12:114793260 TBX5 T>C	12	114793260	114793260	T	C	TBX5	c.*77A>G	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114793260T>C	(Likely) benign	1 lab	6f7665789e
2:179463372 TTN C>T	2	179463372	179463372	C	T	TTN	c.30152G>A	NM_133432.3	NP_597676.3:p.(Gly10051Asp)	NC_000002.11:g.179463372C>T	VUS	1 lab	0aabe79f6a
19:36333202 NPHS1 C>T	19	36333202	36333202	C	T	NPHS1	c.2507-20G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36333202C>T	(Likely) benign	1 lab	6f79b386c6
3:38938354 SCN11A C>T	3	38938354	38938354	C	T	SCN11A	c.2385G>A	NM_014139.2	NP_054858.2:p.(Thr795=)	NC_000003.11:g.38938354C>T	(Likely) benign	1 lab	6f7a5f837c
3:38936337 SCN11A C>T	3	38936337	38936337	C	T	SCN11A	c.2522G>A	NM_014139.2	NP_054858.2:p.(Arg841Gln)	NC_000003.11:g.38936337C>T	(Likely) benign	1 lab	6f7b89897e
19:39075737 RYR1 A>G	19	39075737	39075737	A	G	RYR1	c.14801A>G	NM_000540.2	NP_000531.2:p.(Gln4934Arg)	NC_000019.9:g.39075737A>G	(Likely) pathogenic	1 lab	6f7c7c6dbe
19:1226438 STK11 C>A	19	1226438	1226438	C	A	STK11	c.1109-15C>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1226438C>A	(Likely) benign	1 lab	6f7fb0844c
15:56388082 RFX7 G>A	15	56388082	56388082	G	A	RFX7	c.1844C>T	NM_022841.7	NP_073752.6:p.(Thr615Ile)	NC_000015.9:g.56388082G>A	VUS	1 lab	01e742cddb
X:63412110 AMER1 G>A	X	63412110	63412110	G	A	AMER1	c.1057C>T	NM_152424.3	NP_689637.3:p.(Arg353Ter)	NC_000023.10:g.63412110G>A	(Likely) pathogenic	1 lab	6fc6080edf
2:167163468 SCN9A G>A	2	167163468	167163468	G	A	SCN9A	c.375C>T	NM_001365536.1	NP_001352465.1:p.(His125=)	NC_000002.11:g.167163468G>A	(Likely) benign	1 lab	6f84f2830f
11:68133068 LRP5 G>A	11	68133068	68133068	G	A	LRP5	c.913G>A	NM_002335.4	NP_002326.2:p.(Gly305Ser)	NC_000011.9:g.68133068G>A	VUS	1 lab	6f8743b22e
9:131709397 DOLK C>T	9	131709397	131709397	C	T	DOLK	c.186G>A	NM_014908.3	NP_055723.1:p.(Arg62=)	NC_000009.11:g.131709397C>T	(Likely) benign	1 lab	6f885e0970
17:60685403 MISSING C>G	17	60685403	60685403	C	G	MISSING				NC_000017.10:g.60685403C>G	(Likely) pathogenic	1 lab	6f89426f1c
15:63358226 TPM1 C>T	15	63358226	63358226	C	T	TPM1	c.*128C>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63358226C>T	(Likely) benign	1 lab	6f8e2fe504
6:101847263 GRIK2 G>C	6	101847263	101847263	G	C	GRIK2	c.110G>C	NM_021956.5	NP_068775.1:p.(Arg37Thr)	NC_000006.11:g.101847263G>C	VUS	1 lab	01eadde4f5
6:29912368 HLA-A C>T	6	29912368	29912368	C	T	HLA-A	c.987C>T	NM_002116.8	NP_002107.3:p.(Ala329=)	NC_000006.11:g.29912368C>T	(Likely) benign	1 lab	01eb2569e6
2:26688662 OTOF C>T	2	26688662	26688662	C	T	OTOF	c.4677G>A	NM_194248.2	NP_919224.1:p.(Val1559=)	NC_000002.11:g.26688662C>T	(Likely) benign	1 lab	6f966c8c8d
1:216138812 USH2A G>A	1	216138812	216138812	G	A	USH2A	c.6967C>T	NM_206933.2	NP_996816.2:p.(Arg2323Ter)	NC_000001.10:g.216138812G>A	(Likely) pathogenic	1 lab	6f967fa06a
11:66459983 SPTBN2 GCTGGGTGCCCTCCCTACA>G	11	66459983	66460003	GCTGGGTGCCCTCCCTACA	G	SPTBN2	c.5190+6_5190+23del	NM_006946.3	NP_008877.1:p.?	NC_000011.9:g.66459986_66460003del	(Likely) benign	1 lab	6f977531cb
14:96010424 GLRX5 G>A	14	96010424	96010424	G	A	GLRX5	c.436G>A	NM_016417.2	NP_057501.2:p.(Ala146Thr)	NC_000014.8:g.96010424G>A	(Likely) benign	1 lab	6fd773dfba
X:48933235 WDR45 G>A	X	48933235	48933235	G	A	WDR45	c.694C>T	NM_001029896.2	NP_001025067.1:p.(Arg232Cys)	NC_000023.10:g.48933235G>A	(Likely) pathogenic	1 lab	6f99befb89
16:2139713 PKD1 C>T	16	2139713	2139713	C	T	PKD1	c.*15G>A	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2139713C>T	(Likely) benign	1 lab	6f9a40b408
17:79478957 ACTG1 G>A	17	79478957	79478957	G	A	ACTG1	c.335C>T	NM_001614.3	NP_001605.1:p.(Pro112Leu)	NC_000017.10:g.79478957G>A	(Likely) pathogenic	1 lab	6f9df9ab99
10:28824551 WAC C>T	10	28824551	28824551	C	T	WAC				NC_000010.10:g.28824551C>T	(Likely) pathogenic	1 lab	70d55268ae
10:89692880 PTEN A>C	10	89692880	89692880	A	C	PTEN	c.364A>C	NM_000314.8	NP_000305.3:p.(Ile122Leu)	NC_000010.10:g.89692880A>C	(Likely) pathogenic	1 lab	6fa1313356
7:143043674 CLCN1 C>A	7	143043674	143043674	C	A	CLCN1	c.2287C>A	NM_000083.3	NP_000074.3:p.(Gln763Lys)	NC_000007.13:g.143043674C>A	VUS	1 lab	01eb38a687
9:35737315 GBA2 G>A	9	35737315	35737315	G	A	GBA2	c.2635C>T	NM_020944.2	NP_065995.1:p.(Arg879Trp)	NC_000009.11:g.35737315G>A	VUS	1 lab	6fa7d4b1c5
22:41913581 ACO2 G>A	22	41913581	41913581	G	A	ACO2	c.886G>A	NM_001098.3	NP_001089.1:p.(Val296Met)	NC_000022.10:g.41913581G>A	VUS	1 lab	6faadd175e
19:50764843 MYH14 G>A	19	50764843	50764843	G	A	MYH14				NC_000019.9:g.50764843G>A	VUS	1 lab	6fac3e0eca
12:12291470 LRP6 T>G	12	12291470	12291470	T	G	LRP6	c.3398-2A>C	NM_002336.2	NP_002327.2:p.?	NC_000012.11:g.12291470T>G	(Likely) pathogenic	1 lab	6fb16b460e
X:48935407 WDR45 C>G	X	48935407	48935407	C	G	WDR45	c.131-1G>C	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48935407C>G	(Likely) pathogenic	1 lab	6fb380a728
1:228463680 OBSCN G>T	1	228463680	228463680	G	T	OBSCN	c.7298G>T	NM_001271223.2	NP_001258152.2:p.(Gly2433Val)	NC_000001.10:g.228463680G>T	(Likely) benign	1 lab	6fbac6e7bb
3:47039634 NBEAL2 C>T	3	47039634	47039634	C	T	NBEAL2	c.3036C>T	NM_015175.2	NP_055990.1:p.(Ser1012=)	NC_000003.11:g.47039634C>T	(Likely) benign	1 lab	6fbb515df4
1:207532861 CD55 C>CT	1	207532861	207532881	C	CT	CD55	c.1200-10dup	NM_001114752.3	NP_001108224.1:p.?	NC_000001.10:g.207532881dup	(Likely) benign	1 lab	0aaf8fddec
13:32911671 BRCA2 G>T	13	32911671	32911671	G	T	BRCA2	c.3179G>T	NM_000059.3	NP_000050.2:p.(Ser1060Ile)	NC_000013.10:g.32911671G>T	(Likely) benign	1 lab	6fc11118b3
6:152589214 SYNE1 C>T	6	152589214	152589214	C	T	SYNE1	c.18792G>A	NM_182961.3	NP_892006.3:p.(Ala6264=)	NC_000006.11:g.152589214C>T	(Likely) benign	1 lab	6fc3b58b32
2:73678812 MISSING G>T	2	73678812	73678812	G	T	MISSING				NC_000002.11:g.73678812G>T	(Likely) benign	1 lab	a026aa57a1
2:179426073 TTN TG>T	2	179426073	179426074	TG	T	TTN	c.84785del	NM_001267550.2	NP_001254479.2:p.(Thr28262LysfsTer39)	NC_000002.11:g.179426074del	(Likely) pathogenic	1 lab	01ed9ea442
14:65241933 SPTB G>A	14	65241933	65241933	G	A	SPTB	c.4752C>T	NM_001024858.3	NP_001020029.1:p.(Asn1584=)	NC_000014.8:g.65241933G>A	(Likely) benign	1 lab	0ab0b3d946
16:9857865 GRIN2A G>A	16	9857865	9857865	G	A	GRIN2A				NC_000016.9:g.9857865G>A	VUS	1 lab	7a5c6ad396
10:123274774 FGFR2 A>G	10	123274774	123274774	A	G	FGFR2	c.1144T>C	NM_000141.4	NP_000132.3:p.(Cys382Arg)	NC_000010.10:g.123274774A>G	(Likely) pathogenic	1 lab	6fcfa6d808
X:107819223 COL4A5 T>C	X	107819223	107819223	T	C	COL4A5	c.609+21T>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107819223T>C	(Likely) benign	1 lab	6fd06a5ea1
18:21511155 LAMA3 G>A	18	21511155	21511155	G	A	LAMA3	c.3739G>A	NM_000227.6	NP_000218.3:p.(Asp1247Asn)	NC_000018.9:g.21511155G>A	VUS	1 lab	01f2f706aa
6:112476888 LAMA4 A>G	6	112476888	112476888	A	G	LAMA4	c.1838T>C	NM_001105206.2	NP_001098676.2:p.(Met613Thr)	NC_000006.11:g.112476888A>G	(Likely) benign	1 lab	6fd3468abd
11:125885407 CDON T>C	11	125885407	125885407	T	C	CDON	c.929-2A>G	NM_001378964.1	NP_001365893.1:p.?	NC_000011.9:g.125885407T>C	(Likely) pathogenic	1 lab	6fd3b9848c
3:10184562 VHL C>G	3	10184562	10184562	C	G	VHL	c.340+691C>G	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10184562C>G	(Likely) benign	1 lab	6fe4b0b962
7:2979553 CARD11 G>C	7	2979553	2979553	G	C	CARD11	c.694C>G	NM_001324281.1	NP_001311210.1:p.(Leu232Val)	NC_000007.13:g.2979553G>C	VUS	1 lab	6fe9089bdb
7:140477859 BRAF T>A	7	140477859	140477859	T	A	BRAF	c.1449A>T	NM_004333.6	NP_004324.2:p.(Lys483Asn)	NC_000007.13:g.140477859T>A	(Likely) pathogenic	1 lab	6feafae60c
X:79959014 BRWD3 G>A	X	79959014	79959014	G	A	BRWD3	c.2800C>T	NM_153252.4	NP_694984.4:p.(Arg934Ter)	NC_000023.10:g.79959014G>A	(Likely) pathogenic	1 lab	6fec0def6c
15:31323248 TRPM1 C>T	15	31323248	31323248	C	T	TRPM1	c.2999G>A	NM_002420.5	NP_002411.3:p.(Arg1000Gln)	NC_000015.9:g.31323248C>T	VUS	1 lab	6fec47c18d
1:197398628 CRB1 TCTC>T	1	197398628	197398633	TCTC	T	CRB1	c.2729_2731del	NM_201253.2	NP_957705.1:p.(Ser910del)	NC_000001.10:g.197398631_197398633del	VUS	1 lab	6fed85b584
1:112524463 KCND3 T>TGAAGACGCG	1	112524463	112524478	T	TGAAGACGCG	KCND3	c.877_885dup	NM_004980.4	NP_004971.2:p.(Val294_Arg296dup)	NC_000001.10:g.112524470_112524478dup	(Likely) pathogenic	1 lab	6ff1792e8f
22:30057349 NF2 A>G	22	30057349	30057349	A	G	NF2	c.810+21A>G	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30057349A>G	(Likely) benign	1 lab	6ff522cedc
1:151315613 RFX5 G>A	1	151315613	151315613	G	A	RFX5	c.900C>T	NM_000449.3	NP_000440.1:p.(Leu300=)	NC_000001.10:g.151315613G>A	(Likely) benign	1 lab	0ab7ad2fba
12:2743516 CACNA1C C>T	12	2743516	2743516	C	T	CACNA1C	c.3882C>T	NM_000719.6	NP_000710.5:p.(Ser1294=)	NC_000012.11:g.2743516C>T	(Likely) benign	1 lab	6ffefa2039
16:3830823 CREBBP G>A	16	3830823	3830823	G	A	CREBBP	c.1733C>T	NM_004380.3	NP_004371.2:p.(Pro578Leu)	NC_000016.9:g.3830823G>A	(Likely) benign	1 lab	70059a3796
6:73787559 KCNQ5 G>T	6	73787559	73787559	G	T	KCNQ5	c.867G>T	NM_001160133.1	NP_001153605.1:p.(Lys289Asn)	NC_000006.11:g.73787559G>T	VUS	1 lab	7005aa352b
X:79947619 BRWD3 G>C	X	79947619	79947619	G	C	BRWD3	c.3294C>G	NM_153252.5	NP_694984.5:p.(Ser1098Arg)	NC_000023.10:g.79947619G>C	VUS	1 lab	700b15533e
7:98581985 TRRAP C>A	7	98581985	98581985	C	A	TRRAP	c.9300+4C>A	NM_001244580.2	NP_001231509.1:p.?	NC_000007.13:g.98581985C>A	(Likely) benign	1 lab	01f96422e8
17:44828929 NSF A>AC	17	44828929	44828930	A	AC	NSF	c.2104_2105insC	NM_006178.3	NP_006169.2:p.(Lys702ThrfsTer22)	NC_000017.10:g.44828929_44828930insC	VUS	1 lab	700cf1da1f
10:73570215 CDH23 C>A	10	73570215	73570215	C	A	CDH23	c.8980-14C>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73570215C>A	(Likely) benign	1 lab	701454d841
X:13769478 OFD1 A>G	X	13769478	13769478	A	G	OFD1	c.1046A>G	NM_003611.3	NP_003602.1:p.(Glu349Gly)	NC_000023.10:g.13769478A>G	VUS	1 lab	7016805935
1:196871617 CFHR4 A>T	1	196871617	196871617	A	T	CFHR4	c.128A>T	NM_001201550.2	NP_001188479.1:p.(Tyr43Phe)	NC_000001.10:g.196871617A>T	VUS	1 lab	701887992b
1:103379957 COL11A1 G>A	1	103379957	103379957	G	A	COL11A1	c.3929C>T	NM_001854.4	NP_001845.3:p.(Pro1310Leu)	NC_000001.10:g.103379957G>A	(Likely) benign	1 lab	701940633d
5:14749354 ANKH G>A	5	14749354	14749354	G	A	ANKH	c.749C>T	NM_054027.6	NP_473368.1:p.(Thr250Ile)	NC_000005.9:g.14749354G>A	VUS	1 lab	01fc8d18a7
9:136004699 RALGDS G>A	9	136004699	136004699	G	A	RALGDS	c.7C>T	NM_001271775.2	NP_001258704.1:p.(Arg3Trp)	NC_000009.11:g.136004699G>A	(Likely) benign	1 lab	01fddb62c5
3:52436661 BAP1 G>A	3	52436661	52436661	G	A	BAP1	c.2013C>T	NM_004656.3	NP_004647.1:p.(Tyr671=)	NC_000003.11:g.52436661G>A	(Likely) benign	1 lab	701af97d3c
3:195792295 TFRC G>C	3	195792295	195792295	G	C	TFRC	c.1198+19C>G	NM_003234.4	NP_003225.2:p.?	NC_000003.11:g.195792295G>C	(Likely) benign	1 lab	0ac1f7f1bf
17:62019103 SCN4A G>T	17	62019103	62019103	G	T	SCN4A	c.4539C>A	NM_000334.4	NP_000325.4:p.(Ile1513=)	NC_000017.10:g.62019103G>T	(Likely) benign	1 lab	701d91fce8
3:10191492 VHL G>T	3	10191492	10191492	G	T	VHL	c.485G>T	NM_000551.3	NP_000542.1:p.(Cys162Phe)	NC_000003.11:g.10191492G>T	(Likely) pathogenic	1 lab	701e6a2e91
3:186331137 AHSG G>A	3	186331137	186331137	G	A	AHSG	c.207G>A	NM_001622.4	NP_001613.2:p.(Trp69Ter)	NC_000003.11:g.186331137G>A	VUS	1 lab	701f34f457
5:112164747 APC A>G	5	112164747	112164747	A	G	APC	c.1743+78A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112164747A>G	(Likely) benign	1 lab	7024ad4d38
2:48027494 MSH6 G>A	2	48027494	48027494	G	A	MSH6				NC_000002.11:g.48027494G>A	VUS	1 lab	7025cff1dc
8:141285763 TRAPPC9 TG>T	8	141285763	141285765	TG	T	TRAPPC9	c.2271del	NM_001160372.4	NP_001153844.1:p.(Thr758LeufsTer10)	NC_000008.10:g.141285765del	(Likely) pathogenic	1 lab	7028eb3ee2
13:32945179 BRCA2 A>G	13	32945179	32945179	A	G	BRCA2	c.8574A>G	NM_000059.3	NP_000050.2:p.(Gln2858=)	NC_000013.10:g.32945179A>G	(Likely) benign	1 lab	7029aa8d1d
4:166981323 TLL1 G>T	4	166981323	166981323	G	T	TLL1	c.1990G>T	NM_012464.5	NP_036596.3:p.(Glu664Ter)	NC_000004.11:g.166981323G>T	VUS	1 lab	702aaebee0
17:18047838 MYO15A C>T	17	18047838	18047838	C	T	MYO15A	c.6205C>T	NM_016239.3	NP_057323.3:p.(Pro2069Ser)	NC_000017.10:g.18047838C>T	(Likely) pathogenic	1 lab	702cef855f
9:140056425 GRIN1 TC>T	9	140056425	140056426	TC	T	GRIN1	c.1581del	NM_001185090.1	NP_001172019.1:p.(Ser528AlafsTer6)	NC_000009.11:g.140056426del	(Likely) pathogenic	1 lab	70302710ab
13:100637673 ZIC2 G>A	13	100637673	100637673	G	A	ZIC2	c.1336G>A	NM_007129.4	NP_009060.2:p.(Glu446Lys)	NC_000013.10:g.100637673G>A	VUS	1 lab	7032143a8d
16:56913508 SLC12A3 G>A	16	56913508	56913508	G	A	SLC12A3	c.1390G>A	NM_000339.3	NP_000330.3:p.(Ala464Thr)	NC_000016.9:g.56913508G>A	(Likely) pathogenic	1 lab	70325a2659
14:23898206 MYH7 G>A	14	23898206	23898206	G	A	MYH7	c.1365C>T	NM_000257.2	NP_000248.2:p.(Tyr455=)	NC_000014.8:g.23898206G>A	(Likely) benign	1 lab	70420301be
7:155595960 SHH G>A	7	155595960	155595960	G	A	SHH	c.1023C>T	NM_000193.2	NP_000184.1:p.(Ala341=)	NC_000007.13:g.155595960G>A	VUS	1 lab	7042acf01a
2:179447973 TTN A>T	2	179447973	179447973	A	T	TTN	c.65576-19T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179447973A>T	(Likely) benign	1 lab	7042f031ce
3:32207381 GPD1L G>T	3	32207381	32207381	G	T	GPD1L	c.1035G>T	NM_015141.3	NP_055956.1:p.(Gln345His)	NC_000003.11:g.32207381G>T	(Likely) benign	1 lab	7044d1aed6
17:41251830 BRCA1 C>T	17	41251830	41251830	C	T	BRCA1				NC_000017.10:g.41251830C>T	(Likely) benign	1 lab	7048654a07
17:56811542 RAD51C A>G	17	56811542	56811542	A	G	RAD51C	c.1090A>G	NM_058216.3	NP_478123.1:p.(Ser364Gly)	NC_000017.10:g.56811542A>G	VUS	1 lab	704b3cba5b
7:151864416 KMT2C G>A	7	151864416	151864416	G	A	KMT2C	c.9565C>T	NM_170606.2	NP_733751.2:p.(Gln3189Ter)	NC_000007.13:g.151864416G>A	VUS	1 lab	704ccd2c73
21:44479350 CBS C>T	21	44479350	44479350	C	T	CBS	c.1209G>A	NM_000071.2	NP_000062.1:p.(Thr403=)	NC_000021.8:g.44479350C>T	(Likely) benign	1 lab	0acaa16133
19:39037155 RYR1 C>T	19	39037155	39037155	C	T	RYR1	c.12083C>T	NM_000540.2	NP_000531.2:p.(Ser4028Leu)	NC_000019.9:g.39037155C>T	(Likely) pathogenic	1 lab	705589063d
2:227979350 COL4A4 AC>A	2	227979350	227979352	AC	A	COL4A4	c.551del	NM_000092.4	NP_000083.3:p.(Gly184ValfsTer35)	NC_000002.11:g.227979352del	(Likely) pathogenic	1 lab	7056611308
12:49579635 TUBA1A A>C	12	49579635	49579635	A	C	TUBA1A	c.514T>G	NM_006009.3	NP_006000.2:p.(Tyr172Asp)	NC_000012.11:g.49579635A>C	(Likely) pathogenic	1 lab	70569ef0d3
X:40464909 ATP6AP2 T>G	X	40464909	40464909	T	G	ATP6AP2	c.955T>G	NM_005765.3	NP_005756.2:p.(Leu319Val)	NC_000023.10:g.40464909T>G	(Likely) benign	1 lab	0acb39a8d2
3:37034938 MLH1 C>G	3	37034938	37034938	C	G	MLH1	c.-101C>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37034938C>G	(Likely) benign	1 lab	7057e4c2ef
19:18896619 COMP T>C	19	18896619	18896619	T	C	COMP	c.1532A>G	NM_000095.2	NP_000086.2:p.(Asp511Gly)	NC_000019.9:g.18896619T>C	(Likely) pathogenic	1 lab	7057f33d9d
2:230668284 TRIP12 T>C	2	230668284	230668284	T	C	TRIP12	c.2998+3A>G	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230668284T>C	(Likely) pathogenic	1 lab	705acbc664
16:3304607 MEFV G>C	16	3304607	3304607	G	C	MEFV	c.461C>G	NM_000243.3	NP_000234.1:p.(Ser154Trp)	NC_000016.9:g.3304607G>C	VUS	1 lab	03a649215d
10:85979021 CDHR1 C>T	10	85979021	85979021	C	T	CDHR1	c.2227C>T	NM_001171971.2	NP_001165442.1:p.(Gln743Ter)	NC_000010.10:g.85979021C>T	VUS	1 lab	706003f015
X:21458894 CNKSR2 C>T	X	21458894	21458894	C	T	CNKSR2	c.514C>T	NM_014927.3	NP_055742.2:p.(Gln172Ter)	NC_000023.10:g.21458894C>T	(Likely) pathogenic	1 lab	7060be46f2
X:153640232 TAFAZZIN A>G	X	153640232	153640232	A	G	TAFAZZIN	c.52A>G	NM_000116.4	NP_000107.1:p.(Thr18Ala)	NC_000023.10:g.153640232A>G	VUS	1 lab	7065c89f80
10:89623962 PTEN G>A	10	89623962	89623962	G	A	PTEN	c.-265G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623962G>A	(Likely) benign	1 lab	706c29766e
1:158637865 SPTA1 GA>G	1	158637865	158637881	GA	G	SPTA1	c.1834-14del	NM_003126.4	NP_003117.2:p.?	NC_000001.10:g.158637881del	(Likely) benign	1 lab	0acf387740
4:1806089 FGFR3 G>A	4	1806089	1806089	G	A	FGFR3	c.1108G>A	NM_000142.4	NP_000133.1:p.(Gly370Ser)	NC_000004.11:g.1806089G>A	(Likely) benign	1 lab	706f8ec855
9:14737743 FREM1 C>A	9	14737743	14737743	C	A	FREM1	c.6341-150G>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14737743C>A	(Likely) benign	1 lab	0ad11d95fd
12:112926249 PTPN11 C>G	12	112926249	112926249	C	G	PTPN11	c.1382C>G	NM_002834.3	NP_002825.3:p.(Ala461Gly)	NC_000012.11:g.112926249C>G	(Likely) pathogenic	1 lab	70716d7abc
2:121732628 GLI2 C>A	2	121732628	121732628	C	A	GLI2	c.1311C>A	NM_005270.4	NP_005261.2:p.(Thr437=)	NC_000002.11:g.121732628C>A	(Likely) benign	1 lab	70745cf418
12:53186577 KRT3 G>A	12	53186577	53186577	G	A	KRT3	c.941C>T	NM_057088.3	NP_476429.2:p.(Ala314Val)	NC_000012.11:g.53186577G>A	VUS	1 lab	70748c9314
5:236753 SDHA C>T	5	236753	236753	C	T	SDHA	c.1432+39C>T	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.236753C>T	(Likely) benign	1 lab	71cb37d25e
11:71816060 LRTOMT T>A	11	71816060	71816060	T	A	LRTOMT	c.83+2T>A	NM_001145308.5	NP_001138780.1:p.?	NC_000011.9:g.71816060T>A	(Likely) pathogenic	1 lab	70756a3cdc
11:108138078 ATM A>T	11	108138078	108138078	A	T	ATM	c.2638+9A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108138078A>T	(Likely) benign	1 lab	7076938e69
2:217342939 SMARCAL1 G>T	2	217342939	217342939	G	T	SMARCAL1	c.2542G>T	NM_014140.3	NP_054859.2:p.(Glu848Ter)	NC_000002.11:g.217342939G>T	(Likely) pathogenic	1 lab	7076b68905
1:43396437 SLC2A1 G>A	1	43396437	43396437	G	A	SLC2A1	c.376C>T	NM_006516.2	NP_006507.2:p.(Arg126Cys)	NC_000001.10:g.43396437G>A	(Likely) pathogenic	1 lab	7077c997b5
1:196659199 CFH G>A	1	196659199	196659199	G	A	CFH	c.1166G>A	NM_000186.3	NP_000177.2:p.(Cys389Tyr)	NC_000001.10:g.196659199G>A	VUS	1 lab	7136ce5334
10:89685275 PTEN T>G	10	89685275	89685275	T	G	PTEN	c.170T>G	NM_000314.8	NP_000305.3:p.(Leu57Trp)	NC_000010.10:g.89685275T>G	(Likely) pathogenic	1 lab	7079ddd799
13:32930637 BRCA2 T>G	13	32930637	32930637	T	G	BRCA2				NC_000013.10:g.32930637T>G	VUS	1 lab	707ee5e1f2
7:143036711 CLCN1 A>G	7	143036711	143036711	A	G	CLCN1	c.1579A>G	NM_000083.2	NP_000074.2:p.(Ile527Val)	NC_000007.13:g.143036711A>G	VUS	1 lab	707fc976e6
14:105178771 INF2 A>T	14	105178771	105178771	A	T	INF2	c.2491A>T	NM_022489.3	NP_071934.3:p.(Ile831Phe)	NC_000014.8:g.105178771A>T	(Likely) benign	1 lab	708381bee0
X:67283998 OPHN1 G>A	X	67283998	67283998	G	A	OPHN1	c.1856C>T	NM_002547.2	NP_002538.1:p.(Pro619Leu)	NC_000023.10:g.67283998G>A	VUS	1 lab	7083f3310c
X:41393980 CASK G>A	X	41393980	41393980	G	A	CASK	c.2281C>T	NM_003688.3	NP_003679.2:p.(Arg761Trp)	NC_000023.10:g.41393980G>A	(Likely) benign	1 lab	7084de2933
19:41312492 EGLN2 C>T	19	41312492	41312492	C	T	EGLN2	c.876C>T	NM_080732.4	NP_542770.2:p.(Leu292=)	NC_000019.9:g.41312492C>T	(Likely) benign	1 lab	7089b6c7be
18:33840005 MOCOS A>G	18	33840005	33840005	A	G	MOCOS	c.2276A>G	NM_017947.4	NP_060417.4:p.(Glu759Gly)	NC_000018.9:g.33840005A>G	(Likely) benign	1 lab	0ad2086c33
19:54629963 PRPF31 G>A	19	54629963	54629963	G	A	PRPF31	c.916G>A	NM_015629.3	NP_056444.3:p.(Asp306Asn)	NC_000019.9:g.54629963G>A	VUS	1 lab	708c9a0a63
19:54395009 PRKCG C>G	19	54395009	54395009	C	G	PRKCG	c.611C>G	NM_002739.3	NP_002730.1:p.(Pro204Arg)	NC_000019.9:g.54395009C>G	VUS	1 lab	8b50166ce6
10:88671946 BMPR1A G>A	10	88671946	88671946	G	A	BMPR1A	c.531-51G>A	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88671946G>A	(Likely) benign	1 lab	708cb61042
X:150565783 VMA21 G>T	X	150565783	150565783	G	T	VMA21	c.3G>T	NM_001017980.3	NP_001017980.1:p.(Met1?)	NC_000023.10:g.150565783G>T	VUS	1 lab	70958ef1b9
17:59934544 BRIP1 G>A	17	59934544	59934544	G	A	BRIP1	c.254C>T	NM_032043.2	NP_114432.2:p.(Ser85Leu)	NC_000017.10:g.59934544G>A	(Likely) benign	1 lab	709733fd12
11:86663187 FZD4 C>T	11	86663187	86663187	C	T	FZD4	c.611G>A	NM_012193.3	NP_036325.2:p.(Cys204Tyr)	NC_000011.9:g.86663187C>T	(Likely) pathogenic	1 lab	709880cbb8
14:23884570 MYH7 C>T	14	23884570	23884570	C	T	MYH7	c.5283+20G>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23884570C>T	(Likely) benign	1 lab	713c04efa1
21:36164685 RUNX1 TG>T	21	36164685	36164687	TG	T	RUNX1	c.1189del	NM_001754.4	NP_001745.2:p.(Gln397LysfsTer197)	NC_000021.8:g.36164687del	(Likely) pathogenic	1 lab	709c5c29d1
12:116446421 MED13L A>G	12	116446421	116446421	A	G	MED13L	c.1797T>C	NM_015335.4	NP_056150.1:p.(Thr599=)	NC_000012.11:g.116446421A>G	(Likely) benign	1 lab	709dce4e26
11:120989356 TECTA G>A	11	120989356	120989356	G	A	TECTA	c.1132G>A	NM_005422.4	NP_005413.2:p.(Val378Met)	NC_000011.9:g.120989356G>A	VUS	1 lab	70a71af861
6:64487987 EYS G>A	6	64487987	64487987	G	A	EYS	c.7810C>T	NM_001142800.2	NP_001136272.1:p.(Arg2604Cys)	NC_000006.11:g.64487987G>A	VUS	1 lab	70aad654ba
1:200944044 KIF21B G>A	1	200944044	200944044	G	A	KIF21B	c.4576-3C>T	NM_017596.4	NP_060066.2:p.?	NC_000001.10:g.200944044G>A	(Likely) benign	1 lab	02058a5937
2:167128911 SCN9A C>A	2	167128911	167128911	C	A	SCN9A	c.3316G>T	NM_002977.3	NP_002968.1:p.(Val1106Leu)	NC_000002.11:g.167128911C>A	(Likely) benign	1 lab	70b606cfc3
2:166032873 SCN3A G>T	2	166032873	166032873	G	T	SCN3A	c.32C>A	NM_006922.3	NP_008853.3:p.(Pro11His)	NC_000002.11:g.166032873G>T	VUS	1 lab	70b6921c31
X:107819140 COL4A5 G>A	X	107819140	107819140	G	A	COL4A5	c.547G>A	NM_033380.3	NP_203699.1:p.(Gly183Ser)	NC_000023.10:g.107819140G>A	(Likely) pathogenic	1 lab	70b6f98fed
17:56772455 RAD51C C>T	17	56772455	56772455	C	T	RAD51C	c.309C>T	NM_058216.2	NP_478123.1:p.(Phe103=)	NC_000017.10:g.56772455C>T	(Likely) benign	1 lab	70b7daa184
8:145700264 FOXH1 C>T	8	145700264	145700264	C	T	FOXH1	c.455G>A	NM_003923.3	NP_003914.1:p.(Arg152Gln)	NC_000008.10:g.145700264C>T	(Likely) benign	1 lab	0ad7d0b7bc
16:4751025 ANKS3 G>A	16	4751025	4751025	G	A	ANKS3	c.1230C>T	NM_133450.4	NP_597707.1:p.(Gly410=)	NC_000016.9:g.4751025G>A	(Likely) benign	1 lab	0ad9aeb55f
17:7577188 TP53 A>G	17	7577188	7577188	A	G	TP53	c.783-33T>C	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7577188A>G	(Likely) benign	1 lab	70be45ffb2
3:45541981 LARS2 A>G	3	45541981	45541981	A	G	LARS2	c.1670A>G	NM_015340.3	NP_056155.1:p.(Tyr557Cys)	NC_000003.11:g.45541981A>G	VUS	1 lab	70c05d2d39
11:6588881 MISSING C>T	11	6588881	6588881	C	T	MISSING				NC_000011.9:g.6588881C>T	VUS	1 lab	70c160dccd
3:55513527 WNT5A C>T	3	55513527	55513527	C	T	WNT5A				NC_000003.11:g.55513527C>T	(Likely) pathogenic	1 lab	7be1a280bd
1:228444570 OBSCN G>A	1	228444570	228444570	G	A	OBSCN	c.4804G>A	NM_001271223.2	NP_001258152.2:p.(Gly1602Arg)	NC_000001.10:g.228444570G>A	VUS	1 lab	70c231673c
X:100656672 GLA A>C	X	100656672	100656672	A	C	GLA	c.495T>G	NM_000169.2	NP_000160.1:p.(Asp165Glu)	NC_000023.10:g.100656672A>C	(Likely) pathogenic	1 lab	70c320b34f
6:137166682 PEX7 G>A	6	137166682	137166682	G	A	PEX7	c.340-71G>A	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137166682G>A	(Likely) benign	1 lab	70c3860a47
8:145583745 SLC52A2 G>A	8	145583745	145583745	G	A	SLC52A2	c.593G>A	NM_024531.4	NP_078807.1:p.(Trp198Ter)	NC_000008.10:g.145583745G>A	(Likely) pathogenic	1 lab	70c5b3ace7
7:69583231 AUTS2 T>TA	7	69583231	69583253	T	TA	AUTS2	c.624+34dup	NM_001127231.3	NP_001120703.1:p.?	NC_000007.13:g.69583253dup	(Likely) benign	1 lab	0ada0599ee
2:54876914 SPTBN1 G>A	2	54876914	54876914	G	A	SPTBN1	c.5365G>A	NM_003128.2	NP_003119.2:p.(Asp1789Asn)	NC_000002.11:g.54876914G>A	VUS	1 lab	70cb9b657a
17:59821955 BRIP1 A>G	17	59821955	59821955	A	G	BRIP1	c.2098-3T>C	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59821955A>G	(Likely) benign	1 lab	70cec8be19
15:85188775 WDR73 G>A	15	85188775	85188775	G	A	WDR73	c.810C>T	NM_032856.2	NP_116245.2:p.(Ser270=)	NC_000015.9:g.85188775G>A	(Likely) benign	1 lab	70cf9338c5
2:179569008 TTN G>T	2	179569008	179569008	G	T	TTN	c.13858+33801C>A	NM_133437.3	NP_597681.3:p.?	NC_000002.11:g.179569008G>T	(Likely) benign	1 lab	70d0be32bb
20:42744505 JPH2 G>GGCT	20	42744505	42744506	G	GGCT	JPH2	c.1809_1810insAGC	NM_020433.4	NP_065166.2:p.(Pro603_Leu604insSer)	NC_000020.10:g.42744505_42744506insGCT	VUS	1 lab	70d156a088
13:23913058 SACS C>A	13	23913058	23913058	C	A	SACS	c.4957G>T	NM_014363.4	NP_055178.3:p.(Glu1653Ter)	NC_000013.10:g.23913058C>A	(Likely) pathogenic	1 lab	70d395ed14
8:144999956 PLEC G>A	8	144999956	144999956	G	A	PLEC	c.4552C>T	NM_201380.2	NP_958782.1:p.(Gln1518Ter)	NC_000008.10:g.144999956G>A	(Likely) pathogenic	1 lab	70d5938a5e
7:116312439 MET C>G	7	116312439	116312439	C	G	MET	c.-207C>G	NM_000245.4	NP_000236.2:p.?	NC_000007.13:g.116312439C>G	(Likely) benign	1 lab	70d5ccd327
16:89597235 SPG7 G>A	16	89597235	89597235	G	A	SPG7	c.987+19G>A	NM_003119.2	NP_003110.1:p.?	NC_000016.9:g.89597235G>A	(Likely) benign	1 lab	70d86f6cbf
10:76719732 KAT6B G>A	10	76719732	76719732	G	A	KAT6B	c.626G>A	NM_012330.4	NP_036462.2:p.(Arg209His)	NC_000010.10:g.76719732G>A	VUS	1 lab	70d902a2ab
11:47354779 MYBPC3 C>A	11	47354779	47354779	C	A	MYBPC3	c.3296G>T	NM_000256.3	NP_000247.2:p.(Gly1099Val)	NC_000011.9:g.47354779C>A	VUS	1 lab	0205df5e64
16:89882973 FANCA GC>G	16	89882973	89882978	GC	G	FANCA	c.50del	NM_000135.2	NP_000126.2:p.(Gly17AlafsTer27)	NC_000016.9:g.89882978del	(Likely) pathogenic	1 lab	70dc376a95
16:21763826 OTOA G>A	16	21763826	21763826	G	A	OTOA	c.3055G>A	NM_144672.3	NP_653273.3:p.(Ala1019Thr)	NC_000016.9:g.21763826G>A	VUS	1 lab	70dd1e977c
11:117266312 CEP164 C>G	11	117266312	117266312	C	G	CEP164	c.2963C>G	NM_014956.5	NP_055771.4:p.(Thr988Ser)	NC_000011.9:g.117266312C>G	(Likely) benign	1 lab	02064a54e2
11:108196837 ATM G>C	11	108196837	108196837	G	C	ATM	c.6860G>C	NM_000051.3	NP_000042.3:p.(Gly2287Ala)	NC_000011.9:g.108196837G>C	VUS	1 lab	70e007cd16
X:49851024 CLCN5 T>C	X	49851024	49851024	T	C	CLCN5	c.844T>C	NM_000084.2	NP_000075.1:p.(Phe282Leu)	NC_000023.10:g.49851024T>C	VUS	1 lab	70e1b7cd38
8:87660100 CNGB3 T>C	8	87660100	87660100	T	C	CNGB3	c.919A>G	NM_019098.4	NP_061971.3:p.(Ile307Val)	NC_000008.10:g.87660100T>C	(Likely) benign	1 lab	70e47ae808
11:47365276 MYBPC3 A>G	11	47365276	47365276	A	G	MYBPC3	c.1091-101T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365276A>G	(Likely) benign	1 lab	70e6a38136
17:37829485 PGAP3 GCCA>G	17	37829485	37829492	GCCA	G	PGAP3	c.715_717del	NM_033419.4	NP_219487.3:p.(Trp239del)	NC_000017.10:g.37829490_37829492del	VUS	1 lab	70e6f2d1b1
3:38648201 SCN5A G>A	3	38648201	38648201	G	A	SCN5A	c.1099C>T	NM_000335.5	NP_000326.2:p.(Arg367Cys)	NC_000003.11:g.38648201G>A	(Likely) pathogenic	1 lab	70e7c919ac
3:121976155 CASR C>T	3	121976155	121976155	C	T	CASR	c.413C>T	NM_000388.3	NP_000379.2:p.(Thr138Met)	NC_000003.11:g.121976155C>T	(Likely) pathogenic	1 lab	70e96a3c3f
4:158257019 GRIA2 T>C	4	158257019	158257019	T	C	GRIA2	c.1463T>C	NM_001083619.3	NP_001077088.2:p.(Leu488Pro)	NC_000004.11:g.158257019T>C	(Likely) pathogenic	1 lab	70ea45daea
12:6128410 VWF G>A	12	6128410	6128410	G	A	VWF	c.4174C>T	NM_000552.3	NP_000543.2:p.(Arg1392Trp)	NC_000012.11:g.6128410G>A	VUS	1 lab	70ebcd6005
7:35289889 TBX20 C>CA	7	35289889	35289892	C	CA	TBX20	c.128-75dup	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35289892dup	(Likely) benign	1 lab	70f5f7ccab
5:112164553 APC G>GT	5	112164553	112164555	G	GT	APC	c.1629dup	NM_000038.6	NP_000029.2:p.(Ile544TyrfsTer16)	NC_000005.9:g.112164555dup	(Likely) pathogenic	1 lab	70f885761b
1:120464370 NOTCH2 A>G	1	120464370	120464370	A	G	NOTCH2	c.5276T>C	NM_024408.3	NP_077719.2:p.(Val1759Ala)	NC_000001.10:g.120464370A>G	(Likely) benign	1 lab	70fd857701
1:204159922 KISS1 T>C	1	204159922	204159922	T	C	KISS1	c.107A>G	NM_002256.3	NP_002247.3:p.(Gln36Arg)	NC_000001.10:g.204159922T>C	(Likely) benign	1 lab	70fdead846
7:81634793 CACNA2D1 G>A	7	81634793	81634793	G	A	CACNA2D1	c.1536C>T	NM_000722.2	NP_000713.2:p.(Tyr512=)	NC_000007.13:g.81634793G>A	(Likely) benign	1 lab	0ae33f854e
21:35742805 KCNE2 A>G	21	35742805	35742805	A	G	KCNE2	c.28A>G	NM_172201.1	NP_751951.1:p.(Thr10Ala)	NC_000021.8:g.35742805A>G	(Likely) benign	1 lab	70fe2928b5
1:202710667 KDM5B G>A	1	202710667	202710667	G	A	KDM5B	c.2881C>T	NM_001314042.1	NP_001300971.1:p.(Gln961Ter)	NC_000001.10:g.202710667G>A	VUS	1 lab	71004834a0
21:47420418 COL6A1 C>T	21	47420418	47420418	C	T	COL6A1	c.1813+137C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47420418C>T	(Likely) benign	1 lab	8ae9a62787
1:207940483 CD46 A>G	1	207940483	207940483	A	G	CD46	c.799A>G	NM_172359.3	NP_758869.1:p.(Thr267Ala)	NC_000001.10:g.207940483A>G	VUS	1 lab	710186162d
2:10580981 ODC1 G>A	2	10580981	10580981	G	A	ODC1	c.1255C>T	NM_002539.3	NP_002530.1:p.(Gln419Ter)	NC_000002.11:g.10580981G>A	VUS	1 lab	7108e8feee
12:57963187 KIF5A G>A	12	57963187	57963187	G	A	KIF5A	c.968G>A	NM_004984.2	NP_004975.2:p.(Arg323Gln)	NC_000012.11:g.57963187G>A	VUS	1 lab	710e481000
X:107911735 COL4A5 G>A	X	107911735	107911735	G	A	COL4A5	c.3790+1G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107911735G>A	(Likely) pathogenic	1 lab	710e8308ae
22:30038200 NF2 C>T	22	30038200	30038200	C	T	NF2	c.373C>T	NM_000268.3	NP_000259.1:p.(Gln125Ter)	NC_000022.10:g.30038200C>T	(Likely) pathogenic	1 lab	711065cebd
2:109383357 RANBP2 A>G	2	109383357	109383357	A	G	RANBP2	c.6362A>G	NM_006267.5	NP_006258.3:p.(Gln2121Arg)	NC_000002.11:g.109383357A>G	VUS	1 lab	020674316f
2:145158796 ZEB2 G>A	2	145158796	145158796	G	A	ZEB2	c.886C>T	NM_014795.3	NP_055610.1:p.(His296Tyr)	NC_000002.11:g.145158796G>A	(Likely) pathogenic	1 lab	7113a6c7f3
14:23876365 MYH6 C>A	14	23876365	23876365	C	A	MYH6	c.68G>T	NM_002471.3	NP_002462.2:p.(Arg23Leu)	NC_000014.8:g.23876365C>A	VUS	1 lab	92bdfde66d
4:155488818 FGB T>C	4	155488818	155488818	T	C	FGB	c.564T>C	NM_005141.4	NP_005132.2:p.(Asn188=)	NC_000004.11:g.155488818T>C	(Likely) benign	1 lab	71144b5fb0
17:72791224 SLC38A12 G>A	17	72791224	72791224	G	A	SLC38A12	c.501G>A	NM_017728.4	NP_060198.3:p.(Val167=)	NC_000017.10:g.72791224G>A	(Likely) benign	1 lab	0ae60bc245
8:2092829 MYOM2 A>C	8	2092829	2092829	A	C	MYOM2	c.4322A>C	NM_003970.4	NP_003961.3:p.(Lys1441Thr)	NC_000008.10:g.2092829A>C	VUS	1 lab	0206ebdf1a
5:112103080 APC A>T	5	112103080	112103080	A	T	APC	c.415A>T	NM_000038.6	NP_000029.2:p.(Lys139Ter)	NC_000005.9:g.112103080A>T	(Likely) pathogenic	1 lab	020db169bc
1:209788634 LAMB3 G>T	1	209788634	209788634	G	T	LAMB3	c.3501C>A	NM_001017402.2	NP_001017402.1:p.(Tyr1167Ter)	NC_000001.10:g.209788634G>T	(Likely) pathogenic	1 lab	020dfc3406
14:65544747 MAX C>T	14	65544747	65544747	C	T	MAX	c.179G>A	NM_002382.5	NP_002373.3:p.(Arg60Gln)	NC_000014.8:g.65544747C>T	(Likely) pathogenic	1 lab	7123bb064f
7:103629803 RELN TGCC>T	7	103629803	103629829	TGCC	T	RELN	c.-3_-1del	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103629827_103629829del	(Likely) benign	1 lab	0ae6d46ab3
7:117174348 CFTR C>T	7	117174348	117174348	C	T	CFTR	c.508C>T	NM_000492.4	NP_000483.3:p.(Arg170Cys)	NC_000007.13:g.117174348C>T	VUS	1 lab	7127ce878d
16:90002031 TUBB3 G>T	16	90002031	90002031	G	T	TUBB3				NC_000016.9:g.90002031G>T	VUS	1 lab	712ac5cde4
5:151208546 GLRA1 A>T	5	151208546	151208546	A	T	GLRA1	c.995T>A	NM_000171.3	NP_000162.2:p.(Val332Asp)	NC_000005.9:g.151208546A>T	VUS	1 lab	712b749a06
10:73580036 PSAP C>T	10	73580036	73580036	C	T	PSAP	c.972G>A	NM_001042466.1	NP_001035931.1:p.(Val324=)	NC_000010.10:g.73580036C>T	(Likely) benign	1 lab	712dd55555
3:58512386 ACOX2 G>C	3	58512386	58512386	G	C	ACOX2				NC_000003.11:g.58512386G>C	(Likely) pathogenic	1 lab	73b3b35851
12:2789712 CACNA1C A>G	12	2789712	2789712	A	G	CACNA1C	c.5595A>G	NM_001167625.1	NP_001161097.1:p.(Pro1865=)	NC_000012.11:g.2789712A>G	(Likely) benign	1 lab	712e541dbf
11:129827700 PRDM10 T>A	11	129827700	129827700	T	A	PRDM10	c.175A>T	NM_199437.2	NP_955469.1:p.(Thr59Ser)	NC_000011.9:g.129827700T>A	(Likely) benign	1 lab	712f783359
5:254607 SDHA G>A	5	254607	254607	G	A	SDHA	c.1894G>A	NM_004168.2	NP_004159.2:p.(Val632Ile)	NC_000005.9:g.254607G>A	(Likely) benign	1 lab	71420507dd
4:86916249 ARHGAP24 C>T	4	86916249	86916249	C	T	ARHGAP24	c.1442C>T	NM_001025616.3	NP_001020787.2:p.(Thr481Met)	NC_000004.11:g.86916249C>T	(Likely) benign	1 lab	0ae8d2afbe
4:3495085 DOK7 G>A	4	3495085	3495085	G	A	DOK7	c.1372G>A	NM_173660.4	NP_775931.3:p.(Ala458Thr)	NC_000004.11:g.3495085G>A	(Likely) benign	1 lab	7146dc9934
5:11159811 CTNND2 A>G	5	11159811	11159811	A	G	CTNND2				NC_000005.9:g.11159811A>G	VUS	1 lab	7146e685d2
2:29296870 PCARE C>T	2	29296870	29296870	C	T	PCARE				NC_000002.11:g.29296870C>T	(Likely) benign	1 lab	714808b1bc
9:13121874 MPDZ G>A	9	13121874	13121874	G	A	MPDZ	c.5095C>T	NM_003829.4	NP_003820.2:p.(Gln1699Ter)	NC_000009.11:g.13121874G>A	VUS	1 lab	714d2c3713
22:50301500 ALG12 CCTT>C	22	50301500	50301505	CCTT	C	ALG12	c.858_860del	NM_024105.4	NP_077010.1:p.(Arg287del)	NC_000022.10:g.50301503_50301505del	VUS	1 lab	714dab6f87
5:233681 SDHA C>T	5	233681	233681	C	T	SDHA	c.985C>T	NM_004168.2	NP_004159.2:p.(Arg329Ter)	NC_000005.9:g.233681C>T	(Likely) pathogenic	1 lab	714eb77cdb
X:153585624 FLNA C>T	X	153585624	153585624	C	T	FLNA				NC_000023.10:g.153585624C>T	VUS	1 lab	7461b5e9ee
13:113765158 F7 G>A	13	113765158	113765158	G	A	F7	c.285G>A	NM_000131.4	NP_000122.1:p.(Glu95=)	NC_000013.10:g.113765158G>A	(Likely) benign	1 lab	714f8d8354
X:153599462 FLNA C>G	X	153599462	153599462	C	G	FLNA	c.152G>C	NM_001110556.1	NP_001104026.1:p.(Arg51Pro)	NC_000023.10:g.153599462C>G	VUS	1 lab	7151628a3e
X:20205956 RPS6KA3 C>T	X	20205956	20205956	C	T	RPS6KA3	c.764G>A	NM_004586.3	NP_004577.1:p.(Gly255Asp)	NC_000023.10:g.20205956C>T	(Likely) pathogenic	1 lab	71547d47d8
15:43904993 STRC G>A	15	43904993	43904993	G	A	STRC	c.2779C>T	NM_153700.2	NP_714544.1:p.(Arg927Cys)	NC_000015.9:g.43904993G>A	VUS	1 lab	715b85ecd3
2:179413411 TTN A>G	2	179413411	179413411	A	G	TTN	c.92942T>C	NM_001267550.2	NP_001254479.2:p.(Leu30981Pro)	NC_000002.11:g.179413411A>G	VUS	1 lab	715c4ae9d0
2:48030761 MSH6 C>G	2	48030761	48030761	C	G	MSH6				NC_000002.11:g.48030761C>G	(Likely) benign	1 lab	715ceead34
1:182785920 NPL C>A	1	182785920	182785920	C	A	NPL	c.436C>A	NM_030769.3	NP_110396.1:p.(Pro146Thr)	NC_000001.10:g.182785920C>A	VUS	1 lab	021fc1d12b
6:32006317 CYP21A2 C>T	6	32006317	32006317	C	T	CYP21A2				NC_000006.11:g.32006317C>T	(Likely) benign	1 lab	7169623dd7
6:65149152 EYS G>T	6	65149152	65149152	G	T	EYS	c.5738C>A	NM_001142800.2	NP_001136272.1:p.(Thr1913Asn)	NC_000006.11:g.65149152G>T	VUS	1 lab	716b90d07c
20:57484748 GNAS C>T	20	57484748	57484748	C	T	GNAS	c.728C>T	NM_000516.4	NP_000507.1:p.(Ala243Val)	NC_000020.10:g.57484748C>T	(Likely) pathogenic	1 lab	716ba07cf2
1:152281745 FLG G>T	1	152281745	152281745	G	T	FLG	c.5617C>A	NM_002016.1	NP_002007.1:p.(Gln1873Lys)	NC_000001.10:g.152281745G>T	(Likely) benign	1 lab	716dfa27bf
6:7569543 DSP C>T	6	7569543	7569543	C	T	DSP	c.1544C>T	NM_004415.4	NP_004406.2:p.(Pro515Leu)	NC_000006.11:g.7569543C>T	VUS	1 lab	716f65ce54
10:48416366 GDF2 G>A	10	48416366	48416366	G	A	GDF2	c.328C>T	NM_016204.3	NP_057288.1:p.(Arg110Trp)	NC_000010.10:g.48416366G>A	(Likely) pathogenic	1 lab	717038eec6
10:131755523 EBF3 T>C	10	131755523	131755523	T	C	EBF3	c.553A>G	NM_001005463.2	NP_001005463.1:p.(Arg185Gly)	NC_000010.10:g.131755523T>C	VUS	1 lab	7173f5d76e
19:13441142 CACNA1A G>A	19	13441142	13441142	G	A	CACNA1A	c.1264C>T	NM_001127221.1	NP_001120693.1:p.(Arg422Trp)	NC_000019.9:g.13441142G>A	VUS	1 lab	7174013110
16:1248692 CACNA1H T>G	16	1248692	1248692	T	G	CACNA1H	c.721T>G	NM_021098.3	NP_066921.2:p.(Phe241Val)	NC_000016.9:g.1248692T>G	VUS	1 lab	02202ebf6e
10:112769508 SHOC2 C>T	10	112769508	112769508	C	T	SHOC2	c.1460C>T	NM_001324337.1	NP_001311266.1:p.(Pro487Leu)	NC_000010.10:g.112769508C>T	VUS	1 lab	717566e7af
2:167089906 SCN9A G>T	2	167089906	167089906	G	T	SCN9A	c.3835C>A	NM_002977.3	NP_002968.1:p.(Arg1279=)	NC_000002.11:g.167089906G>T	(Likely) benign	1 lab	71781cdf93
1:111216000 MISSING C>T	1	111216000	111216000	C	T	MISSING				NC_000001.10:g.111216000C>T	VUS	1 lab	717d3fa72c
12:6128280 VWF T>C	12	6128280	6128280	T	C	VWF	c.4304A>G	NM_000552.3	NP_000543.2:p.(Asn1435Ser)	NC_000012.11:g.6128280T>C	(Likely) benign	1 lab	7181029c5a
11:108158356 ATM A>T	11	108158356	108158356	A	T	ATM	c.4023A>T	NM_000051.3	NP_000042.3:p.(Pro1341=)	NC_000011.9:g.108158356A>T	(Likely) benign	1 lab	718345f50f
7:128493520 FLNC C>G	7	128493520	128493520	C	G	FLNC	c.6209-3C>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128493520C>G	(Likely) benign	1 lab	02216d0142
1:196648907 CFH G>C	1	196648907	196648907	G	C	CFH	c.774G>C	NM_000186.4	NP_000177.2:p.(Pro258=)	NC_000001.10:g.196648907G>C	(Likely) benign	1 lab	7187e58265
11:2683357 KCNQ1 A>G	11	2683357	2683357	A	G	KCNQ1	c.1514+46A>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2683357A>G	(Likely) benign	1 lab	718cb3fb21
16:1815962 MAPK8IP3 G>A	16	1815962	1815962	G	A	MAPK8IP3	c.2427G>A	NM_001040439.1	NP_001035529.1:p.(Ala809=)	NC_000016.9:g.1815962G>A	VUS	1 lab	7191563b72
2:216269209 FN1 T>G	2	216269209	216269209	T	G	FN1	c.3156A>C	NM_212482.1	NP_997647.1:p.(Pro1052=)	NC_000002.11:g.216269209T>G	(Likely) benign	1 lab	7191bc88f4
2:1983498 MYT1L G>A	2	1983498	1983498	G	A	MYT1L	c.52C>T	NM_015025.3	NP_055840.2:p.(Arg18Ter)	NC_000002.11:g.1983498G>A	(Likely) pathogenic	1 lab	7191e4dbe6
10:71139826 HK1 G>A	10	71139826	71139826	G	A	HK1	c.1240G>A	NM_000188.3	NP_000179.2:p.(Gly414Arg)	NC_000010.10:g.71139826G>A	(Likely) pathogenic	1 lab	71977fd5d2
X:107827764 COL4A5 T>G	X	107827764	107827764	T	G	COL4A5	c.1032+9T>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107827764T>G	(Likely) benign	1 lab	7197af3b3b
3:14180690 TMEM43 A>G	3	14180690	14180690	A	G	TMEM43	c.893A>G	NM_024334.3	NP_077310.1:p.(His298Arg)	NC_000003.11:g.14180690A>G	(Likely) benign	1 lab	02219cfc0e
11:103060490 DYNC2H1 G>T	11	103060490	103060490	G	T	DYNC2H1	c.7382G>T	NM_001080463.1	NP_001073932.1:p.(Gly2461Val)	NC_000011.9:g.103060490G>T	(Likely) pathogenic	1 lab	719a515038
X:595262 SHOX C>T	X	595262	595262	C	T	SHOX	c.278-91C>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.595262C>T	(Likely) benign	1 lab	719d059917
8:141566321 AGO2 A>G	8	141566321	141566321	A	G	AGO2	c.1091T>C	NM_012154.4	NP_036286.2:p.(Met364Thr)	NC_000008.10:g.141566321A>G	VUS	1 lab	719fea9693
2:48734504 PPP1R21 T>C	2	48734504	48734504	T	C	PPP1R21	c.2065T>C	NM_001135629.3	NP_001129101.1:p.(Ser689Pro)	NC_000002.11:g.48734504T>C	VUS	1 lab	0223075047
3:37034770 MLH1 C>G	3	37034770	37034770	C	G	MLH1				NC_000003.11:g.37034770C>G	(Likely) benign	1 lab	71a3ab1c7d
13:32899350 BRCA2 T>C	13	32899350	32899350	T	C	BRCA2	c.425+29T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32899350T>C	(Likely) benign	1 lab	71a5e740c1
12:22012601 ABCC9 C>A	12	22012601	22012601	C	A	ABCC9	c.2425-1G>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22012601C>A	(Likely) pathogenic	1 lab	0223df4d9b
17:41267777 BRCA1 G>A	17	41267777	41267777	G	A	BRCA1	c.100C>T	NM_007294.4	NP_009225.1:p.(Pro34Ser)	NC_000017.10:g.41267777G>A	(Likely) pathogenic	1 lab	02243febd2
11:64573689 MEN1 T>C	11	64573689	64573689	T	C	MEN1	c.1049+15A>G	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64573689T>C	(Likely) benign	1 lab	71aeafba10
7:143043345 CLCN1 G>A	7	143043345	143043345	G	A	CLCN1	c.2284+1G>A	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143043345G>A	(Likely) pathogenic	1 lab	71b0c72141
3:38913034 SCN11A T>C	3	38913034	38913034	T	C	SCN11A	c.3661A>G	NM_014139.2	NP_054858.2:p.(Thr1221Ala)	NC_000003.11:g.38913034T>C	(Likely) benign	1 lab	71b19ba52e
3:43474199 ANO10 C>G	3	43474199	43474199	C	G	ANO10	c.1818G>C	NM_018075.3	NP_060545.3:p.(Lys606Asn)	NC_000003.11:g.43474199C>G	VUS	1 lab	71b21ae88b
7:117432511 CTTNBP2 G>A	7	117432511	117432511	G	A	CTTNBP2	c.739C>T	NM_033427.3	NP_219499.1:p.(Arg247Trp)	NC_000007.13:g.117432511G>A	VUS	1 lab	02260f7e1d
4:42895308 GRXCR1 G>A	4	42895308	42895308	G	A	GRXCR1	c.25G>A	NM_001080476.2	NP_001073945.1:p.(Glu9Lys)	NC_000004.11:g.42895308G>A	(Likely) benign	1 lab	71b5fde07a
10:112540626 RBM20 G>T	10	112540626	112540626	G	T	RBM20	c.259G>T	NM_001134363.2	NP_001127835.2:p.(Ala87Ser)	NC_000010.10:g.112540626G>T	VUS	1 lab	71b8a9c231
11:120979992 TECTA G>A	11	120979992	120979992	G	A	TECTA				NC_000011.9:g.120979992G>A	VUS	1 lab	71bb7b8333
1:196648912 CFH C>A	1	196648912	196648912	C	A	CFH	c.779C>A	NM_000186.4	NP_000177.2:p.(Pro260His)	NC_000001.10:g.196648912C>A	VUS	1 lab	71bd6b76d5
19:17783293 UNC13A C>T	19	17783293	17783293	C	T	UNC13A				NC_000019.9:g.17783293C>T	VUS	1 lab	71bd8b4cfe
9:13206044 MPDZ G>A	9	13206044	13206044	G	A	MPDZ	c.1345C>T	NM_003829.4	NP_003820.2:p.(Arg449Ter)	NC_000009.11:g.13206044G>A	(Likely) pathogenic	1 lab	71bec7c5b5
12:6457071 SCNN1A T>C	12	6457071	6457071	T	C	SCNN1A	c.1978A>G	NM_001038.5	NP_001029.1:p.(Ser660Gly)	NC_000012.11:g.6457071T>C	(Likely) benign	1 lab	71bf788ba1
10:88476284 LDB3 A>C	10	88476284	88476284	A	C	LDB3	c.1432A>C	NM_007078.2	NP_009009.1:p.(Ser478Arg)	NC_000010.10:g.88476284A>C	VUS	1 lab	71bfbc8f37
4:39902120 PDS5A T>C	4	39902120	39902120	T	C	PDS5A	c.1507A>G	NM_001100399.1	NP_001093869.1:p.(Asn503Asp)	NC_000004.11:g.39902120T>C	VUS	1 lab	71c1791044
3:37048556 MLH1 T>G	3	37048556	37048556	T	G	MLH1	c.453+2T>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048556T>G	(Likely) pathogenic	1 lab	71c29a3824
3:172165985 GHSR C>A	3	172165985	172165985	C	A	GHSR	c.219G>T	NM_198407.2	NP_940799.1:p.(Glu73Asp)	NC_000003.11:g.172165985C>A	VUS	1 lab	71c3965cd8
14:23889373 MYH7 C>T	14	23889373	23889373	C	T	MYH7	c.3407G>A	NM_000257.3	NP_000248.2:p.(Arg1136His)	NC_000014.8:g.23889373C>T	VUS	1 lab	71c4e3a1d9
X:148037683 AFF2 T>C	X	148037683	148037683	T	C	AFF2	c.2108T>C	NM_002025.3	NP_002016.2:p.(Ile703Thr)	NC_000023.10:g.148037683T>C	VUS	1 lab	71c896472b
2:170070348 LRP2 T>C	2	170070348	170070348	T	C	LRP2	c.5859A>G	NM_004525.2	NP_004516.2:p.(Arg1953=)	NC_000002.11:g.170070348T>C	(Likely) benign	1 lab	71ca50777b
11:128710050 KCNJ1 C>T	11	128710050	128710050	C	T	KCNJ1	c.146G>A	NM_000220.4	NP_000211.1:p.(Cys49Tyr)	NC_000011.9:g.128710050C>T	(Likely) pathogenic	1 lab	71ce16a358
7:143016907 CLCN1 G>A	7	143016907	143016907	G	A	CLCN1	c.240G>A	NM_000083.3	NP_000074.3:p.(Lys80=)	NC_000007.13:g.143016907G>A	VUS	1 lab	71ce76856e
1:12409421 VPS13D C>T	1	12409421	12409421	C	T	VPS13D	c.9421C>T	NM_015378.3	NP_056193.2:p.(Arg3141Ter)	NC_000001.10:g.12409421C>T	(Likely) pathogenic	1 lab	71cf02f5f4
1:169511927 F5 G>A	1	169511927	169511927	G	A	F5	c.2401C>T	NM_000130.4	NP_000121.2:p.(Gln801Ter)	NC_000001.10:g.169511927G>A	(Likely) pathogenic	1 lab	71d0283df5
11:61213555 SDHAF2 C>T	11	61213555	61213555	C	T	SDHAF2	c.*12C>T	NM_017841.2	NP_060311.1:p.?	NC_000011.9:g.61213555C>T	(Likely) benign	1 lab	71d23a09cd
14:75516299 MLH3 G>A	14	75516299	75516299	G	A	MLH3	c.60C>T	NM_001040108.2	NP_001035197.1:p.(Ser20=)	NC_000014.8:g.75516299G>A	(Likely) benign	1 lab	71d487566d
2:73678641 MISSING A>G	2	73678641	73678641	A	G	MISSING				NC_000002.11:g.73678641A>G	(Likely) benign	1 lab	71d8cde23b
4:120107438 MYOZ2 A>G	4	120107438	120107438	A	G	MYOZ2	c.*83A>G	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107438A>G	(Likely) benign	1 lab	71da93da2d
16:89211764 ACSF3 G>A	16	89211764	89211764	G	A	ACSF3	c.1456G>A	NM_174917.3	NP_777577.2:p.(Ala486Thr)	NC_000016.9:g.89211764G>A	VUS	1 lab	71dc62e8aa
9:136512976 DBH G>A	9	136512976	136512976	G	A	DBH	c.1033G>A	NM_000787.3	NP_000778.3:p.(Asp345Asn)	NC_000009.11:g.136512976G>A	(Likely) pathogenic	1 lab	71e4673508
11:108129764 ATM A>G	11	108129764	108129764	A	G	ATM	c.2428A>G	NM_000051.3	NP_000042.3:p.(Lys810Glu)	NC_000011.9:g.108129764A>G	(Likely) benign	1 lab	71e4b0bae8
10:69926386 MYPN G>A	10	69926386	69926386	G	A	MYPN	c.1936G>A	NM_032578.3	NP_115967.2:p.(Val646Met)	NC_000010.10:g.69926386G>A	VUS	1 lab	71e8e41be6
15:48720576 FBN1 A>G	15	48720576	48720576	A	G	FBN1	c.6964T>C	NM_000138.5	NP_000129.3:p.(Phe2322Leu)	NC_000015.9:g.48720576A>G	VUS	1 lab	71ebcca8c3
19:36228158 KMT2B A>G	19	36228158	36228158	A	G	KMT2B	c.7544A>G	NM_014727.2	NP_055542.1:p.(Tyr2515Cys)	NC_000019.9:g.36228158A>G	VUS	1 lab	71efb3150c
3:9788074 BRPF1 C>T	3	9788074	9788074	C	T	BRPF1	c.3415C>T	NM_001003694.2	NP_001003694.1:p.(Gln1139Ter)	NC_000003.11:g.9788074C>T	(Likely) pathogenic	1 lab	71f0bf3ca8
7:151478409 PRKAG2 G>A	7	151478409	151478409	G	A	PRKAG2	c.295C>T	NM_016203.4	NP_057287.2:p.(Pro99Ser)	NC_000007.13:g.151478409G>A	VUS	1 lab	022aee84cb
13:32915059 BRCA2 C>T	13	32915059	32915059	C	T	BRCA2	c.6567C>T	NM_000059.3	NP_000050.2:p.(Asn2189=)	NC_000013.10:g.32915059C>T	(Likely) benign	1 lab	71f370aef4
1:241675458 FH T>A	1	241675458	241675458	T	A	FH	c.379-15A>T	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241675458T>A	(Likely) benign	1 lab	71f629dc67
18:3129297 MYOM1 C>T	18	3129297	3129297	C	T	MYOM1	c.2727G>A	NM_003803.3	NP_003794.3:p.(Pro909=)	NC_000018.9:g.3129297C>T	(Likely) benign	1 lab	71f7379933
6:31915596 CFB G>A	6	31915596	31915596	G	A	CFB	c.736G>A	NM_001710.6	NP_001701.2:p.(Asp246Asn)	NC_000006.11:g.31915596G>A	VUS	1 lab	71f870dde1
11:64577591 MEN1 C>T	11	64577591	64577591	C	T	MEN1	c.-10G>A	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64577591C>T	(Likely) benign	1 lab	71fac01a81
14:24709842 TINF2 G>A	14	24709842	24709842	G	A	TINF2	c.844C>T	NM_001099274.1	NP_001092744.1:p.(Arg282Cys)	NC_000014.8:g.24709842G>A	(Likely) pathogenic	1 lab	71fc1e833d
19:38956757 RYR1 C>T	19	38956757	38956757	C	T	RYR1	c.2897C>T	NM_000540.2	NP_000531.2:p.(Pro966Leu)	NC_000019.9:g.38956757C>T	VUS	1 lab	71ff177c78
X:70642977 TAF1 A>G	X	70642977	70642977	A	G	TAF1	c.4463A>G	NM_004606.5	NP_004597.3:p.(Lys1488Arg)	NC_000023.10:g.70642977A>G	VUS	1 lab	71ff3d35bc
16:1502864 CLCN7 A>G	16	1502864	1502864	A	G	CLCN7	c.1245T>C	NM_001287.5	NP_001278.1:p.(Ile415=)	NC_000016.9:g.1502864A>G	(Likely) benign	1 lab	71fff1aa8d
19:18979434 GDF1 A>G	19	18979434	18979434	A	G	GDF1	c.1091T>C	NM_001492.6	NP_001483.3:p.(Met364Thr)	NC_000019.9:g.18979434A>G	(Likely) pathogenic	1 lab	720011429a
15:89386694 ACAN C>A	15	89386694	89386694	C	A	ACAN	c.866C>A	NM_001369268.1	NP_001356197.1:p.(Ala289Asp)	NC_000015.9:g.89386694C>A	VUS	1 lab	7202d29642
1:91980447 MISSING A>G	1	91980447	91980447	A	G	MISSING				NC_000001.10:g.91980447A>G	(Likely) benign	1 lab	72034b6a38
11:47357552 MYBPC3 G>GC	11	47357552	47357553	G	GC	MYBPC3	c.2612dup	NM_000256.3	NP_000247.2:p.(Ser871ArgfsTer13)	NC_000011.9:g.47357553dup	VUS	1 lab	7206a48638
3:38797357 SCN10A T>C	3	38797357	38797357	T	C	SCN10A	c.1383A>G	NM_006514.3	NP_006505.3:p.(Arg461=)	NC_000003.11:g.38797357T>C	(Likely) benign	1 lab	7208e050c4
2:47698217 MSH2 C>A	2	47698217	47698217	C	A	MSH2	c.1759+16C>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698217C>A	(Likely) benign	1 lab	720abe4ff7
2:179455004 TTN C>T	2	179455004	179455004	C	T	TTN	c.61448G>A	NM_001267550.1	NP_001254479.1:p.(Arg20483His)	NC_000002.11:g.179455004C>T	VUS	1 lab	0aedba4f0b
3:38891998 SCN11A C>G	3	38891998	38891998	C	G	SCN11A	c.4301G>C	NM_014139.2	NP_054858.2:p.(Cys1434Ser)	NC_000003.11:g.38891998C>G	(Likely) benign	1 lab	7212c123c4
16:14704525 PARN T>C	16	14704525	14704525	T	C	PARN				NC_000016.9:g.14704525T>C	VUS	1 lab	7214b47f49
20:60902477 LAMA5 G>A	20	60902477	60902477	G	A	LAMA5	c.4939-15C>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60902477G>A	(Likely) benign	1 lab	0aeff8a3e7
2:99012912 CNGA3 C>T	2	99012912	99012912	C	T	CNGA3	c.1279C>T	NM_001298.2	NP_001289.1:p.(Arg427Cys)	NC_000002.11:g.99012912C>T	(Likely) pathogenic	1 lab	72195e673f
9:131710006 NUP188 C>T	9	131710006	131710006	C	T	NUP188	c.8C>T	NM_015354.3	NP_056169.1:p.(Ala3Val)	NC_000009.11:g.131710006C>T	VUS	1 lab	022ede3e42
6:35280131 DEF6 T>C	6	35280131	35280131	T	C	DEF6	c.476T>C	NM_022047.4	NP_071330.3:p.(Leu159Ser)	NC_000006.11:g.35280131T>C	(Likely) benign	1 lab	0af9942d1d
16:75513243 CHST6 G>C	16	75513243	75513243	G	C	CHST6	c.484C>G	NM_021615.4	NP_067628.1:p.(Arg162Gly)	NC_000016.9:g.75513243G>C	(Likely) benign	1 lab	72240e6a56
19:18896592 COMP C>T	19	18896592	18896592	C	T	COMP	c.1559G>A	NM_000095.2	NP_000086.2:p.(Cys520Tyr)	NC_000019.9:g.18896592C>T	VUS	1 lab	7224f41b7d
X:77266688 ATP7A G>C	X	77266688	77266688	G	C	ATP7A	c.1885G>C	NM_000052.6	NP_000043.4:p.(Ala629Pro)	NC_000023.10:g.77266688G>C	VUS	1 lab	7224fa5493
21:44482468 CBS G>T	21	44482468	44482468	G	T	CBS	c.992C>A	NM_000071.2	NP_000062.1:p.(Ala331Glu)	NC_000021.8:g.44482468G>T	(Likely) pathogenic	1 lab	722670e98e
22:38122215 TRIOBP A>T	22	38122215	38122215	A	T	TRIOBP	c.3652A>T	NM_001039141.3	NP_001034230.1:p.(Ile1218Phe)	NC_000022.10:g.38122215A>T	VUS	1 lab	7226b97979
13:32915215 BRCA2 A>C	13	32915215	32915215	A	C	BRCA2	c.6723A>C	NM_000059.3	NP_000050.2:p.(Thr2241=)	NC_000013.10:g.32915215A>C	(Likely) benign	1 lab	722a54745d
16:1817835 MAPK8IP3 C>T	16	1817835	1817835	C	T	MAPK8IP3	c.3436C>T	NM_015133.3	NP_055948.2:p.(Arg1146Cys)	NC_000016.9:g.1817835C>T	(Likely) pathogenic	1 lab	722c1044c0
X:20193311 RPS6KA3 G>A	X	20193311	20193311	G	A	RPS6KA3	c.1198C>T	NM_004586.2	NP_004577.1:p.(Gln400Ter)	NC_000023.10:g.20193311G>A	(Likely) pathogenic	1 lab	722caecbdb
10:89711890 PTEN A>T	10	89711890	89711890	A	T	PTEN	c.508A>T	NM_000314.4	NP_000305.3:p.(Ser170Cys)	NC_000010.10:g.89711890A>T	(Likely) pathogenic	1 lab	7230631b0a
2:179528239 TTN A>T	2	179528239	179528239	A	T	TTN	c.36537T>A	NM_001267550.2	NP_001254479.2:p.(Pro12179=)	NC_000002.11:g.179528239A>T	(Likely) benign	1 lab	72322d3b86
15:50940894 TRPM7 T>C	15	50940894	50940894	T	C	TRPM7	c.311A>G	NM_017672.6	NP_060142.3:p.(Tyr104Cys)	NC_000015.9:g.50940894T>C	(Likely) benign	1 lab	7234219cba
8:126091094 WASHC5 T>C	8	126091094	126091094	T	C	WASHC5	c.597A>G	NM_014846.3	NP_055661.3:p.(Pro199=)	NC_000008.10:g.126091094T>C	(Likely) benign	1 lab	72393bbf47
13:32914640 BRCA2 G>A	13	32914640	32914640	G	A	BRCA2				NC_000013.10:g.32914640G>A	(Likely) benign	1 lab	723a53cb99
22:21343971 LZTR1 G>A	22	21343971	21343971	G	A	LZTR1	c.651G>A	NM_006767.4	NP_006758.2:p.(Glu217=)	NC_000022.10:g.21343971G>A	(Likely) pathogenic	1 lab	0230901766
X:153640224 TAFAZZIN T>G	X	153640224	153640224	T	G	TAFAZZIN	c.44T>G	NM_000116.4	NP_000107.1:p.(Leu15Arg)	NC_000023.10:g.153640224T>G	VUS	1 lab	7253de0578
15:85400781 ALPK3 C>T	15	85400781	85400781	C	T	ALPK3	c.2812C>T	NM_020778.5	NP_065829.4:p.(Gln938Ter)	NC_000015.9:g.85400781C>T	(Likely) pathogenic	1 lab	7240fc0caa
16:21272592 CRYM G>A	16	21272592	21272592	G	A	CRYM				NC_000016.9:g.21272592G>A	(Likely) benign	1 lab	a028ff19fe
3:38622729 SCN5A T>TA	3	38622729	38622730	T	TA	SCN5A	c.2920_2921insT	NM_198056.2	NP_932173.1:p.(Lys974IlefsTer56)	NC_000003.11:g.38622729_38622730insA	(Likely) pathogenic	1 lab	7245630472
17:59821962 BRIP1 G>A	17	59821962	59821962	G	A	BRIP1	c.2098-10C>T	NM_032043.2	NP_114432.2:p.?	NC_000017.10:g.59821962G>A	(Likely) benign	1 lab	7246a67d24
15:31320641 TRPM1 G>A	15	31320641	31320641	G	A	TRPM1	c.3121C>T	NM_002420.6	NP_002411.3:p.(Arg1041Trp)	NC_000015.9:g.31320641G>A	(Likely) pathogenic	1 lab	72470d1592
18:19359606 MIB1 GA>G	18	19359606	19359608	GA	G	MIB1	c.870del	NM_020774.4	NP_065825.1:p.(Asp291IlefsTer5)	NC_000018.9:g.19359608del	VUS	1 lab	02369c0ba8
11:2585006 KCNQ1 C>T	11	2585006	2585006	C	T	KCNQ1	c.478-6852C>T	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2585006C>T	(Likely) benign	1 lab	724a944e8c
1:237777524 RYR2 G>A	1	237777524	237777524	G	A	RYR2	c.5096G>A	NM_001035.2	NP_001026.2:p.(Arg1699His)	NC_000001.10:g.237777524G>A	VUS	1 lab	724bb6adb7
4:20533613 SLIT2 C>G	4	20533613	20533613	C	G	SLIT2	c.1620C>G	NM_004787.4	NP_004778.1:p.(Leu540=)	NC_000004.11:g.20533613C>G	(Likely) benign	1 lab	0afee77f29
4:6303645 WFS1 G>A	4	6303645	6303645	G	A	WFS1	c.2123G>A	NM_006005.3	NP_005996.2:p.(Arg708His)	NC_000004.11:g.6303645G>A	VUS	1 lab	72516f36aa
5:131713879 SLC22A5 T>C	5	131713879	131713879	T	C	SLC22A5	c.417T>C	NM_001308122.1	NP_001295051.1:p.(Ala139=)	NC_000005.9:g.131713879T>C	(Likely) benign	1 lab	7251966827
1:196682887 CFH A>C	1	196682887	196682887	A	C	CFH	c.1359A>C	NM_000186.3	NP_000177.2:p.(Ile453=)	NC_000001.10:g.196682887A>C	VUS	1 lab	7252465f90
15:90319964 MESP2 C>T	15	90319964	90319964	C	T	MESP2	c.376C>T	NM_001039958.1	NP_001035047.1:p.(Arg126Cys)	NC_000015.9:g.90319964C>T	(Likely) pathogenic	1 lab	7252c15de2
3:38768481 SCN10A C>T	3	38768481	38768481	C	T	SCN10A	c.2703G>A	NM_006514.3	NP_006505.3:p.(Pro901=)	NC_000003.11:g.38768481C>T	(Likely) benign	1 lab	72588b9375
3:37059048 MLH1 C>T	3	37059048	37059048	C	T	MLH1	c.842C>T	NM_000249.3	NP_000240.1:p.(Ala281Val)	NC_000003.11:g.37059048C>T	(Likely) pathogenic	1 lab	7258a7389c
17:41245453 BRCA1 C>T	17	41245453	41245453	C	T	BRCA1	c.2095G>A	NM_007294.3	NP_009225.1:p.(Glu699Lys)	NC_000017.10:g.41245453C>T	(Likely) benign	1 lab	725a819029
9:34657536 IL11RA C>A	9	34657536	34657536	C	A	IL11RA	c.598C>A	NM_001142784.2	NP_001136256.1:p.(Pro200Thr)	NC_000009.11:g.34657536C>A	(Likely) pathogenic	1 lab	725ab97cfa
12:57960966 KIF5A G>A	12	57960966	57960966	G	A	KIF5A	c.559G>A	NM_004984.2	NP_004975.2:p.(Gly187Arg)	NC_000012.11:g.57960966G>A	VUS	1 lab	725e5d8a34
1:207269919 C4BPB C>T	1	207269919	207269919	C	T	C4BPB	c.462C>T	NM_000716.3	NP_000707.1:p.(Asn154=)	NC_000001.10:g.207269919C>T	(Likely) benign	1 lab	725fe6135d
17:7577153 TP53 C>A	17	7577153	7577153	C	A	TP53	c.785G>T	NM_000546.5	NP_000537.3:p.(Gly262Val)	NC_000017.10:g.7577153C>A	(Likely) pathogenic	1 lab	72608d2e63
X:49837207 CLCN5 G>C	X	49837207	49837207	G	C	CLCN5	c.379G>C	NM_001127898.4	NP_001121370.1:p.(Gly127Arg)	NC_000023.10:g.49837207G>C	(Likely) pathogenic	1 lab	72609a8acf
4:155505888 FGA G>A	4	155505888	155505888	G	A	FGA	c.1989C>T	NM_000508.3	NP_000499.1:p.(Cys663=)	NC_000004.11:g.155505888G>A	(Likely) benign	1 lab	0aff1be2d9
1:94481929 ABCA4 C>T	1	94481929	94481929	C	T	ABCA4	c.5197-519G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94481929C>T	(Likely) benign	1 lab	7264084a54
13:101755690 NALCN C>T	13	101755690	101755690	C	T	NALCN	c.2890G>A	NM_052867.4	NP_443099.1:p.(Val964Met)	NC_000013.10:g.101755690C>T	VUS	1 lab	023cac6c06
6:31901383 C2 G>A	6	31901383	31901383	G	A	C2	c.443-4G>A	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31901383G>A	(Likely) benign	1 lab	726a3a4361
6:15487590 JARID2 CA>C	6	15487590	15487594	CA	C	JARID2	c.727del	NM_004973.4	NP_004964.2:p.(Ser243AlafsTer64)	NC_000006.11:g.15487594del	(Likely) pathogenic	1 lab	023d308e48
1:229568475 ACTA1 G>C	1	229568475	229568475	G	C	ACTA1	c.282C>G	NM_001100.3	NP_001091.1:p.(Asn94Lys)	NC_000001.10:g.229568475G>C	(Likely) pathogenic	1 lab	7271f5fd62
15:63336231 TPM1 A>G	15	63336231	63336231	A	G	TPM1	c.120A>G	NM_001018005.1	NP_001018005.1:p.(Glu40=)	NC_000015.9:g.63336231A>G	(Likely) benign	1 lab	7273ce1734
X:37663320 CYBB AG>A	X	37663320	37663324	AG	A	CYBB	c.1092del	NM_000397.4	NP_000388.2:p.(Leu365CysfsTer21)	NC_000023.10:g.37663324del	(Likely) pathogenic	1 lab	023e3479cd
12:110238470 TRPV4 C>T	12	110238470	110238470	C	T	TRPV4				NC_000012.11:g.110238470C>T	(Likely) pathogenic	1 lab	b5434f3300
13:101797237 NALCN C>A	13	101797237	101797237	C	A	NALCN	c.1850G>T	NM_052867.3	NP_443099.1:p.(Ser617Ile)	NC_000013.10:g.101797237C>A	VUS	1 lab	727a455558
8:72267016 EYA1 C>T	8	72267016	72267016	C	T	EYA1	c.124+1G>A	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72267016C>T	VUS	1 lab	727ed81b36
3:78767004 ROBO1 G>GT	3	78767004	78767005	G	GT	ROBO1	c.686dup	NM_002941.4	NP_002932.1:p.(Tyr229Ter)	NC_000003.11:g.78767005dup	(Likely) pathogenic	1 lab	023fc64b94
2:48032165 MSH6 AG>A	2	48032165	48032167	AG	A	MSH6	c.3556+1del	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032167del	(Likely) pathogenic	1 lab	0240c04ae5
13:32905098 BRCA2 A>G	13	32905098	32905098	A	G	BRCA2	c.724A>G	NM_000059.3	NP_000050.2:p.(Lys242Glu)	NC_000013.10:g.32905098A>G	(Likely) benign	1 lab	7281ae3f09
2:179444965 TTN ATAG>A	2	179444965	179444971	ATAG	A	TTN	c.67058-12_67058-10del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179444969_179444971del	(Likely) benign	1 lab	72822093df
3:10442694 ATP2B2 T>G	3	10442694	10442694	T	G	ATP2B2	c.724A>C	NM_001001331.3	NP_001001331.1:p.(Thr242Pro)	NC_000003.11:g.10442694T>G	VUS	1 lab	72875fb378
15:73614848 HCN4 G>T	15	73614848	73614848	G	T	HCN4	c.3586C>A	NM_005477.3	NP_005468.1:p.(Arg1196Ser)	NC_000015.9:g.73614848G>T	VUS	1 lab	728928f448
1:237947427 RYR2 A>G	1	237947427	237947427	A	G	RYR2	c.12415A>G	NM_001035.3	NP_001026.2:p.(Met4139Val)	NC_000001.10:g.237947427A>G	VUS	1 lab	7289447adc
13:32937430 BRCA2 C>T	13	32937430	32937430	C	T	BRCA2	c.8091C>T	NM_000059.3	NP_000050.2:p.(Ser2697=)	NC_000013.10:g.32937430C>T	(Likely) benign	1 lab	7289c8230c
1:3329228 PRDM16 C>T	1	3329228	3329228	C	T	PRDM16	c.2467C>T	NM_022114.3	NP_071397.3:p.(Arg823Cys)	NC_000001.10:g.3329228C>T	VUS	1 lab	728f6a4aad
1:156106003 LMNA A>G	1	156106003	156106003	A	G	LMNA				NC_000001.10:g.156106003A>G	(Likely) pathogenic	1 lab	728fde7469
2:242102808 PPP1R7 A>C	2	242102808	242102808	A	C	PPP1R7	c.706A>C	NM_002712.2	NP_002703.1:p.(Ser236Arg)	NC_000002.11:g.242102808A>C	VUS	1 lab	72902aaeec
6:118015324 NUS1 T>TA	6	118015324	118015325	T	TA	NUS1	c.673dup	NM_138459.5	NP_612468.1:p.(Thr225AsnfsTer7)	NC_000006.11:g.118015325dup	(Likely) pathogenic	1 lab	72904c08d9
10:69948695 MYPN A>C	10	69948695	69948695	A	C	MYPN	c.2737A>C	NM_001256267.1	NP_001243196.1:p.(Met913Leu)	NC_000010.10:g.69948695A>C	(Likely) benign	1 lab	7290c147ab
1:228404189 OBSCN C>T	1	228404189	228404189	C	T	OBSCN	c.2163C>T	NM_001271223.2	NP_001258152.2:p.(His721=)	NC_000001.10:g.228404189C>T	(Likely) benign	1 lab	72925037a9
6:45882031 CLIC5 C>T	6	45882031	45882031	C	T	CLIC5	c.999G>A	NM_001114086.1	NP_001107558.1:p.(Lys333=)	NC_000006.11:g.45882031C>T	(Likely) benign	1 lab	7293ccd587
12:52842643 KRT6B C>T	12	52842643	52842643	C	T	KRT6B	c.1186G>A	NM_005555.4	NP_005546.2:p.(Asp396Asn)	NC_000012.11:g.52842643C>T	(Likely) benign	1 lab	0245563e01
X:55046896 ALAS2 C>T	X	55046896	55046896	C	T	ALAS2	c.680G>A	NM_000032.4	NP_000023.2:p.(Arg227His)	NC_000023.10:g.55046896C>T	(Likely) pathogenic	1 lab	7299e9a925
3:38182230 MYD88 C>G	3	38182230	38182230	C	G	MYD88	c.645-18C>G	NM_002468.5	NP_002459.3:p.?	NC_000003.11:g.38182230C>G	(Likely) benign	1 lab	0aff644b06
2:179638739 TTN C>T	2	179638739	179638739	C	T	TTN	c.7156G>A	NM_133378.4	NP_596869.4:p.(Gly2386Ser)	NC_000002.11:g.179638739C>T	VUS	1 lab	0246251f4c
9:139409125 NOTCH1 A>G	9	139409125	139409125	A	G	NOTCH1	c.2044T>C	NM_017617.4	NP_060087.3:p.(Cys682Arg)	NC_000009.11:g.139409125A>G	VUS	1 lab	72a39c7186
6:7574435 DSP A>G	6	7574435	7574435	A	G	DSP	c.2247A>G	NM_004415.3	NP_004406.2:p.(Leu749=)	NC_000006.11:g.7574435A>G	(Likely) benign	1 lab	72a7274649
17:73825078 UNC13D C>G	17	73825078	73825078	C	G	UNC13D	c.2955-14G>C	NM_199242.2	NP_954712.1:p.?	NC_000017.10:g.73825078C>G	(Likely) benign	1 lab	0b01867016
1:110717446 SLC6A17 G>A	1	110717446	110717446	G	A	SLC6A17	c.617G>A	NM_001010898.2	NP_001010898.1:p.(Trp206Ter)	NC_000001.10:g.110717446G>A	(Likely) pathogenic	1 lab	72a84d49d0
14:23282245 SLC7A7 C>A	14	23282245	23282245	C	A	SLC7A7	c.363G>T	NM_003982.4	NP_003973.3:p.(Trp121Cys)	NC_000014.8:g.23282245C>A	VUS	1 lab	72ab823698
11:103022977 DYNC2H1 T>G	11	103022977	103022977	T	G	DYNC2H1	c.3059T>G	NM_001080463.2	NP_001073932.1:p.(Leu1020Ter)	NC_000011.9:g.103022977T>G	(Likely) pathogenic	1 lab	0b027f0ed4
14:45645935 FANCM TCA>T	14	45645935	45645937	TCA	T	FANCM	c.3979_3980del	NM_020937.4	NP_065988.1:p.(Gln1327ValfsTer16)	NC_000014.8:g.45645936_45645937del	(Likely) pathogenic	1 lab	72ad9130bd
4:107268755 AIMP1 A>G	4	107268755	107268755	A	G	AIMP1	c.917A>G	NM_001142416.1	NP_001135888.1:p.(Asp306Gly)	NC_000004.11:g.107268755A>G	VUS	1 lab	72adf149cc
17:7806642 CHD3 G>A	17	7806642	7806642	G	A	CHD3	c.3548G>A	NM_001005273.3	NP_001005273.1:p.(Arg1183Gln)	NC_000017.10:g.7806642G>A	(Likely) benign	1 lab	72ae36fcf9
2:165953816 SCN3A G>A	2	165953816	165953816	G	A	SCN3A	c.4185C>T	NM_006922.4	NP_008853.3:p.(Asn1395=)	NC_000002.11:g.165953816G>A	(Likely) benign	1 lab	72b5aec5ba
20:42744265 JPH2 G>C	20	42744265	42744265	G	C	JPH2	c.2010+40C>G	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42744265G>C	(Likely) benign	1 lab	72bb2f4221
3:38675003 SCN5A T>G	3	38675003	38675003	T	G	SCN5A	c.-52-153A>C	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38675003T>G	(Likely) benign	1 lab	72bd207704
18:42529838 SETBP1 A>G	18	42529838	42529838	A	G	SETBP1	c.541-8A>G	NM_015559.2	NP_056374.2:p.?	NC_000018.9:g.42529838A>G	(Likely) benign	1 lab	72bfd5dc0c
3:48612666 COL7A1 C>T	3	48612666	48612666	C	T	COL7A1	c.6190G>A	NM_000094.3	NP_000085.1:p.(Gly2064Arg)	NC_000003.11:g.48612666C>T	(Likely) pathogenic	1 lab	72c4ab3845
1:94508988 ABCA4 CT>C	1	94508988	94508991	CT	C	ABCA4	c.3093del	NM_000350.3	NP_000341.2:p.(Gly1032GlufsTer52)	NC_000001.10:g.94508991del	(Likely) pathogenic	1 lab	72c74dd351
12:52080897 SCN8A A>T	12	52080897	52080897	A	T	SCN8A	c.508A>T	NM_014191.3	NP_055006.1:p.(Thr170Ser)	NC_000012.11:g.52080897A>T	(Likely) benign	1 lab	72c7a0347d
22:29083920 CHEK2 T>C	22	29083920	29083920	T	C	CHEK2	c.1597A>G	NM_007194.4	NP_009125.1:p.(Thr533Ala)	NC_000022.10:g.29083920T>C	(Likely) benign	1 lab	72c852d917
9:3856155 GLIS3 TGGTGA>T	9	3856155	3856162	TGGTGA	T	GLIS3	c.1857_1861del	NM_152629.3	NP_689842.3:p.(His621GlnfsTer81)	NC_000009.11:g.3856158_3856162del	(Likely) pathogenic	1 lab	72c8a949e2
2:179650451 TTN G>C	2	179650451	179650451	G	C	TTN	c.2251C>G	NM_133432.3	NP_597676.3:p.(Leu751Val)	NC_000002.11:g.179650451G>C	VUS	1 lab	0b0c4079dc
7:155596086 SHH C>G	7	155596086	155596086	C	G	SHH	c.897G>C	NM_000193.2	NP_000184.1:p.(Leu299=)	NC_000007.13:g.155596086C>G	(Likely) benign	1 lab	72cd813890
7:103018066 SLC26A5 C>T	7	103018066	103018066	C	T	SLC26A5	c.1966G>A	NM_198999.3	NP_945350.1:p.(Gly656Arg)	NC_000007.13:g.103018066C>T	VUS	1 lab	72cea369e5
4:151829824 LRBA T>C	4	151829824	151829824	T	C	LRBA	c.1347A>G	NM_006726.4	NP_006717.2:p.(Ala449=)	NC_000004.11:g.151829824T>C	(Likely) benign	1 lab	72d5875563
2:223161800 PAX3 G>A	2	223161800	223161800	G	A	PAX3				NC_000002.11:g.223161800G>A	(Likely) pathogenic	1 lab	72d9b6581d
13:20763573 GJB2 C>T	13	20763573	20763573	C	T	GJB2	c.148G>A	NM_004004.5	NP_003995.2:p.(Asp50Asn)	NC_000013.10:g.20763573C>T	(Likely) pathogenic	1 lab	72d9c58a92
5:112175507 APC C>T	5	112175507	112175507	C	T	APC	c.4216C>T	NM_000038.5	NP_000029.2:p.(Gln1406Ter)	NC_000005.9:g.112175507C>T	(Likely) pathogenic	1 lab	72da392c7d
2:122288579 RNU4ATAC G>A	2	122288579	122288579	G	A	RNU4ATAC	n.124G>A	NR_023343.1		NC_000002.11:g.122288579G>A	(Likely) pathogenic	1 lab	867767bcc5
16:81739195 CMIP TG>T	16	81739195	81739196	TG	T	CMIP	c.2184del	NM_198390.2	NP_938204.2:p.(Leu729TrpfsTer3)	NC_000016.9:g.81739196del	VUS	1 lab	72de09abe8
2:220290450 DES G>A	2	220290450	220290450	G	A	DES	c.1354G>A	NM_001927.4	NP_001918.3:p.(Glu452Lys)	NC_000002.11:g.220290450G>A	VUS	1 lab	72de8c4611
6:32008870 TNXB C>T	6	32008870	32008870	C	T	TNXB				NC_000006.11:g.32008870C>T	(Likely) pathogenic	1 lab	72e1335d29
9:94486622 ROR2 G>A	9	94486622	94486622	G	A	ROR2				NC_000009.11:g.94486622G>A	(Likely) benign	1 lab	72e37dd9b0
13:31891821 B3GLCT G>A	13	31891821	31891821	G	A	B3GLCT	c.1183G>A	NM_194318.3	NP_919299.3:p.(Gly395Arg)	NC_000013.10:g.31891821G>A	(Likely) pathogenic	1 lab	72e8394060
7:150647970 KCNH2 C>G	7	150647970	150647970	C	G	KCNH2	c.2145+39G>C	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150647970C>G	(Likely) benign	1 lab	72eaf9991e
13:32936672 BRCA2 C>T	13	32936672	32936672	C	T	BRCA2	c.7818C>T	NM_000059.3	NP_000050.2:p.(Asp2606=)	NC_000013.10:g.32936672C>T	(Likely) benign	1 lab	72ef37ec36
3:49160546 USP19 C>T	3	49160546	49160546	C	T	USP19				NC_000003.11:g.49160546C>T	(Likely) benign	1 lab	72ef3e4874
2:47641558 MSH2 G>T	2	47641558	47641558	G	T	MSH2	c.942+1G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47641558G>T	(Likely) pathogenic	1 lab	72f4c0e4f5
1:41285591 KCNQ4 A>G	1	41285591	41285591	A	G	KCNQ4	c.879A>G	NM_004700.3	NP_004691.2:p.(Thr293=)	NC_000001.10:g.41285591A>G	(Likely) benign	1 lab	72f89bf132
X:154132676 F8 C>T	X	154132676	154132676	C	T	F8	c.5710G>A	NM_000132.4	NP_000123.1:p.(Glu1904Lys)	NC_000023.10:g.154132676C>T	(Likely) pathogenic	1 lab	72fa9102b4
15:67004039 SMAD6 C>T	15	67004039	67004039	C	T	SMAD6	c.851C>T	NM_005585.4	NP_005576.3:p.(Pro284Leu)	NC_000015.9:g.67004039C>T	VUS	1 lab	72fbb8a823
5:177422839 PROP1 C>CGG	5	177422839	177422843	C	CGG	PROP1				NC_000005.9:g.177422842_177422843dup	(Likely) pathogenic	1 lab	72ff1b0be7
8:143993994 CYP11B2 G>T	8	143993994	143993994	G	T	CYP11B2	c.1350C>A	NM_000498.3	NP_000489.3:p.(Cys450Ter)	NC_000008.10:g.143993994G>T	(Likely) pathogenic	1 lab	72ffd6f6b8
10:8100694 GATA3 C>CG	10	8100694	8100695	C	CG	GATA3	c.669dup	NM_001002295.1	NP_001002295.1:p.(Pro224AlafsTer80)	NC_000010.10:g.8100695dup	(Likely) pathogenic	1 lab	7302657e75
15:38632148 SPRED1 A>G	15	38632148	38632148	A	G	SPRED1	c.582+52A>G	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38632148A>G	(Likely) benign	1 lab	7306cd7cab
9:139391795 NOTCH1 C>G	9	139391795	139391795	C	G	NOTCH1	c.6396G>C	NM_017617.4	NP_060087.3:p.(Thr2132=)	NC_000009.11:g.139391795C>G	(Likely) benign	1 lab	730702a677
6:85457691 TBX18 A>G	6	85457691	85457691	A	G	TBX18	c.886T>C	NM_001080508.3	NP_001073977.1:p.(Phe296Leu)	NC_000006.11:g.85457691A>G	VUS	1 lab	73074838fd
12:80935365 MISSING C>T	12	80935365	80935365	C	T	MISSING				NC_000012.11:g.80935365C>T	(Likely) benign	1 lab	7308801c17
2:179404261 TTN T>C	2	179404261	179404261	T	C	TTN	c.98531A>G	NM_001267550.2	NP_001254479.2:p.(Tyr32844Cys)	NC_000002.11:g.179404261T>C	VUS	1 lab	730956d86f
18:28671119 DSC2 A>G	18	28671119	28671119	A	G	DSC2				NC_000018.9:g.28671119A>G	(Likely) benign	1 lab	0b1cc04eb2
13:88327735 SLITRK5 C>T	13	88327735	88327735	C	T	SLITRK5	c.92C>T	NM_001384609.1	NP_001371538.1:p.(Thr31Ile)	NC_000013.10:g.88327735C>T	VUS	1 lab	73124fab87
8:61654925 CHD7 C>T	8	61654925	61654925	C	T	CHD7	c.934C>T	NM_017780.4	NP_060250.2:p.(Arg312Ter)	NC_000008.10:g.61654925C>T	(Likely) pathogenic	1 lab	732094f7ad
1:196706776 CFH C>T	1	196706776	196706776	C	T	CFH	c.2768C>T	NM_000186.3	NP_000177.2:p.(Pro923Leu)	NC_000001.10:g.196706776C>T	(Likely) benign	1 lab	732107c096
1:45288154 PTCH2 G>A	1	45288154	45288154	G	A	PTCH2	c.3545C>T	NM_003738.5	NP_003729.3:p.(Pro1182Leu)	NC_000001.10:g.45288154G>A	(Likely) benign	1 lab	025a87f8af
6:33160191 COL11A2 G>T	6	33160191	33160191	G	T	COL11A2	c.-174C>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33160191G>T	(Likely) benign	1 lab	732bf69e11
16:23640593 PALB2 C>T	16	23640593	23640593	C	T	PALB2	c.2518G>A	NM_024675.3	NP_078951.2:p.(Glu840Lys)	NC_000016.9:g.23640593C>T	(Likely) benign	1 lab	732ce4e171
7:23164789 KLHL7 T>A	7	23164789	23164789	T	A	KLHL7	c.440T>A	NM_001031710.3	NP_001026880.2:p.(Leu147His)	NC_000007.13:g.23164789T>A	(Likely) pathogenic	1 lab	733ae0eeac
8:144990348 PLEC G>C	8	144990348	144990348	G	C	PLEC	c.14052C>G	NM_201380.4	NP_958782.1:p.(Ala4684=)	NC_000008.10:g.144990348G>C	(Likely) benign	1 lab	0b1f0b49b9
16:68856093 CDH1 C>T	16	68856093	68856093	C	T	CDH1	c.1901C>T	NM_004360.3	NP_004351.1:p.(Ala634Val)	NC_000016.9:g.68856093C>T	(Likely) pathogenic	1 lab	73402a2cd5
7:153750108 DPP6 G>A	7	153750108	153750108	G	A	DPP6				NC_000007.13:g.153750108G>A	(Likely) benign	1 lab	73485334f1
5:52347366 ITGA2 A>C	5	52347366	52347366	A	C	ITGA2				NC_000005.9:g.52347366A>C	(Likely) benign	1 lab	b579117474
16:23641517 PALB2 C>T	16	23641517	23641517	C	T	PALB2	c.1958G>A	NM_024675.4	NP_078951.2:p.(Cys653Tyr)	NC_000016.9:g.23641517C>T	VUS	1 lab	734a1401ba
8:17927213 ASAH1 C>T	8	17927213	17927213	C	T	ASAH1	c.351+88G>A	NM_004315.6	NP_004306.3:p.?	NC_000008.10:g.17927213C>T	(Likely) benign	1 lab	0b23802a17
17:41244522 BRCA1 G>C	17	41244522	41244522	G	C	BRCA1	c.3026C>G	NM_007294.3	NP_009225.1:p.(Ser1009Ter)	NC_000017.10:g.41244522G>C	(Likely) pathogenic	1 lab	734f5bdb3f
1:94577002 ABCA4 G>C	1	94577002	94577002	G	C	ABCA4	c.294C>G	NM_000350.2	NP_000341.2:p.(Asn98Lys)	NC_000001.10:g.94577002G>C	VUS	1 lab	735230709b
10:8100506 GATA3 C>G	10	8100506	8100506	C	G	GATA3	c.480C>G	NM_001002295.1	NP_001002295.1:p.(Asp160Glu)	NC_000010.10:g.8100506C>G	(Likely) benign	1 lab	7354064f43
16:23649390 PALB2 C>A	16	23649390	23649390	C	A	PALB2	c.108+1G>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649390C>A	(Likely) pathogenic	1 lab	73564626dd
8:72234450 EYA1 G>A	8	72234450	72234450	G	A	EYA1	c.256C>T	NM_000503.5	NP_000494.2:p.(Gln86Ter)	NC_000008.10:g.72234450G>A	(Likely) pathogenic	1 lab	73591622e9
1:45807192 TOE1 G>A	1	45807192	45807192	G	A	TOE1	c.284G>A	NM_025077.4	NP_079353.3:p.(Arg95His)	NC_000001.10:g.45807192G>A	VUS	1 lab	735d4f6ad8
5:235427 SDHA C>T	5	235427	235427	C	T	SDHA	c.1233C>T	NM_004168.4	NP_004159.2:p.(Gly411=)	NC_000005.9:g.235427C>T	(Likely) benign	1 lab	7364066ff6
7:128490538 FLNC G>A	7	128490538	128490538	G	A	FLNC	c.5398+1G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128490538G>A	(Likely) pathogenic	1 lab	736d914e98
21:46925346 COL18A1 G>T	21	46925346	46925346	G	T	COL18A1	c.3087+1G>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46925346G>T	(Likely) pathogenic	1 lab	73704a68ed
19:3661985 PIP5K1C G>A	19	3661985	3661985	G	A	PIP5K1C	c.234C>T	NM_012398.3	NP_036530.1:p.(Thr78=)	NC_000019.9:g.3661985G>A	(Likely) benign	1 lab	0b2cca6158
19:2997903 TLE2 T>G	19	2997903	2997903	T	G	TLE2	c.2178A>C	NM_001300846.1	NP_001287775.1:p.(Lys726Asn)	NC_000019.9:g.2997903T>G	VUS	1 lab	73717ca249
X:76855201 ATRX T>C	X	76855201	76855201	T	C	ATRX	c.5786A>G	NM_000489.3	NP_000480.2:p.(Lys1929Arg)	NC_000023.10:g.76855201T>C	(Likely) benign	1 lab	7371cc31f9
4:1803595 FGFR3 G>C	4	1803595	1803595	G	C	FGFR3	c.773G>C	NM_000142.5	NP_000133.1:p.(Gly258Ala)	NC_000004.11:g.1803595G>C	VUS	1 lab	7375b1fd05
2:166246073 SCN2A C>T	2	166246073	166246073	C	T	SCN2A	c.5757C>T	NM_021007.3	NP_066287.2:p.(Tyr1919=)	NC_000002.11:g.166246073C>T	(Likely) benign	1 lab	0b2d8662b0
16:74808447 FA2H G>C	16	74808447	74808447	G	C	FA2H	c.207C>G	NM_024306.4	NP_077282.3:p.(His69Gln)	NC_000016.9:g.74808447G>C	VUS	1 lab	73780beff7
10:76789287 KAT6B T>C	10	76789287	76789287	T	C	KAT6B	c.4705T>C	NM_012330.4	NP_036462.2:p.(Cys1569Arg)	NC_000010.10:g.76789287T>C	VUS	1 lab	025d2416c3
9:129376788 LMX1B C>T	9	129376788	129376788	C	T	LMX1B	c.60C>T	NM_002316.4	NP_002307.2:p.(Asp20=)	NC_000009.11:g.129376788C>T	(Likely) benign	1 lab	0b30a3cfca
5:149263002 PDE6A C>T	5	149263002	149263002	C	T	PDE6A	c.2125G>A	NM_000440.2	NP_000431.2:p.(Glu709Lys)	NC_000005.9:g.149263002C>T	VUS	1 lab	737b6ce610
1:237675001 RYR2 A>G	1	237675001	237675001	A	G	RYR2	c.2732A>G	NM_001035.3	NP_001026.2:p.(Asn911Ser)	NC_000001.10:g.237675001A>G	VUS	1 lab	0b31200715
17:29576136 NF1 A>C	17	29576136	29576136	A	C	NF1	c.4109A>C	NM_001042492.3	NP_001035957.1:p.(Gln1370Pro)	NC_000017.10:g.29576136A>C	VUS	1 lab	737f10b5af
11:47354406 MYBPC3 C>CT	11	47354406	47354407	C	CT	MYBPC3	c.3448dup	NM_000256.3	NP_000247.2:p.(Arg1150LysfsTer19)	NC_000011.9:g.47354407dup	(Likely) pathogenic	1 lab	737fd64a6c
4:114290844 ANK2 G>T	4	114290844	114290844	G	T	ANK2	c.11493G>T	NM_001148.5	NP_001139.3:p.(Glu3831Asp)	NC_000004.11:g.114290844G>T	(Likely) benign	1 lab	737ffdca9f
16:23646377 PALB2 T>C	16	23646377	23646377	T	C	PALB2	c.1490A>G	NM_024675.3	NP_078951.2:p.(Asn497Ser)	NC_000016.9:g.23646377T>C	(Likely) benign	1 lab	7381236d55
3:132401656 NPHP3 G>GT	3	132401656	132401662	G	GT	NPHP3	c.3702dup	NM_153240.4	NP_694972.3:p.(His1235ThrfsTer3)	NC_000003.11:g.132401662dup	(Likely) pathogenic	1 lab	7382fa60f4
2:179481717 TTN C>G	2	179481717	179481717	C	G	TTN	c.47899G>C	NM_001267550.2	NP_001254479.2:p.(Ala15967Pro)	NC_000002.11:g.179481717C>G	VUS	1 lab	7384ba6f8a
9:14804839 FREM1 C>T	9	14804839	14804839	C	T	FREM1	c.3471+115G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14804839C>T	(Likely) benign	1 lab	0c0921b33f
8:42693339 THAP1 G>C	8	42693339	42693339	G	C	THAP1	c.408C>G	NM_018105.3	NP_060575.1:p.(Asn136Lys)	NC_000008.10:g.42693339G>C	(Likely) pathogenic	1 lab	7385d31c59
5:180052909 FLT4 G>A	5	180052909	180052909	G	A	FLT4	c.1381C>T	NM_182925.5	NP_891555.2:p.(Arg461Trp)	NC_000005.9:g.180052909G>A	VUS	1 lab	738b06dc71
13:113772717 F7 T>C	13	113772717	113772717	T	C	F7	c.806-10T>C	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113772717T>C	(Likely) benign	1 lab	738e63ae52
15:48580696 SLC12A1 T>C	15	48580696	48580696	T	C	SLC12A1	c.2856T>C	NM_000338.3	NP_000329.2:p.(Ile952=)	NC_000015.9:g.48580696T>C	(Likely) benign	1 lab	0b351597c7
1:41466735 CTPS1 C>T	1	41466735	41466735	C	T	CTPS1	c.1040C>T	NM_001905.4	NP_001896.2:p.(Ser347Leu)	NC_000001.10:g.41466735C>T	(Likely) benign	1 lab	0b35aa85e0
13:32936757 BRCA2 G>T	13	32936757	32936757	G	T	BRCA2	c.7903G>T	NM_000059.3	NP_000050.2:p.(Glu2635Ter)	NC_000013.10:g.32936757G>T	(Likely) pathogenic	1 lab	739279a445
X:135761788 ARHGEF6 G>T	X	135761788	135761788	G	T	ARHGEF6	c.1736C>A	NM_004840.2	NP_004831.1:p.(Pro579His)	NC_000023.10:g.135761788G>T	VUS	1 lab	7396a9d8c3
11:66475091 SPTBN2 G>A	11	66475091	66475091	G	A	SPTBN2	c.1549C>T	NM_006946.4	NP_008877.2:p.(Arg517Trp)	NC_000011.9:g.66475091G>A	VUS	1 lab	0261d4b642
22:36681936 MYH9 C>T	22	36681936	36681936	C	T	MYH9	c.5125G>A	NM_002473.5	NP_002464.1:p.(Glu1709Lys)	NC_000022.10:g.36681936C>T	VUS	1 lab	739a41c895
12:80933734 MISSING A>G	12	80933734	80933734	A	G	MISSING				NC_000012.11:g.80933734A>G	(Likely) benign	1 lab	739ae4bbd4
12:4758305 NDUFA9 G>C	12	4758305	4758305	G	C	NDUFA9	c.13G>C	NM_005002.5	NP_004993.1:p.(Ala5Pro)	NC_000012.11:g.4758305G>C	(Likely) benign	1 lab	0262a7f84b
17:80863883 TBCD G>A	17	80863883	80863883	G	A	TBCD	c.1876G>A	NM_005993.4	NP_005984.3:p.(Ala626Thr)	NC_000017.10:g.80863883G>A	VUS	1 lab	739f0c6d8f
17:36091805 HNF1B G>A	17	36091805	36091805	G	A	HNF1B	c.826C>T	NM_000458.2	NP_000449.1:p.(Arg276Ter)	NC_000017.10:g.36091805G>A	(Likely) pathogenic	1 lab	73a0a8b60f
3:119102005 ARHGAP31 T>C	3	119102005	119102005	T	C	ARHGAP31	c.614T>C	NM_020754.4	NP_065805.2:p.(Ile205Thr)	NC_000003.11:g.119102005T>C	VUS	1 lab	026371f06d
20:478426 CSNK2A1 T>C	20	478426	478426	T	C	CSNK2A1	c.367-2A>G	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.478426T>C	(Likely) pathogenic	1 lab	73a3a65d55
21:43230617 PRDM15 C>T	21	43230617	43230617	C	T	PRDM15	c.2545G>A	NM_001040424.3	NP_001035514.2:p.(Val849Ile)	NC_000021.8:g.43230617C>T	VUS	1 lab	0263c37086
5:112174979 APC C>T	5	112174979	112174979	C	T	APC	c.3688C>T	NM_000038.6	NP_000029.2:p.(Gln1230Ter)	NC_000005.9:g.112174979C>T	(Likely) pathogenic	1 lab	73a5dd93b7
2:47687649 MSH2 A>C	2	47687649	47687649	A	C	MSH2	c.1387-2521A>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47687649A>C	(Likely) benign	1 lab	73a610226e
18:59739907 PIGN T>C	18	59739907	59739907	T	C	PIGN	c.2671A>G	NM_176787.4	NP_789744.1:p.(Ser891Gly)	NC_000018.9:g.59739907T>C	(Likely) pathogenic	1 lab	73c14c697e
6:33177709 RING1 C>T	6	33177709	33177709	C	T	RING1	c.257C>T	NM_002931.4	NP_002922.2:p.(Thr86Ile)	NC_000006.11:g.33177709C>T	VUS	1 lab	73a8864093
2:166003543 SCN3A T>A	2	166003543	166003543	T	A	SCN3A	c.1381-4A>T	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.166003543T>A	(Likely) benign	1 lab	73ad6623e0
17:41197886 BRCA1 C>T	17	41197886	41197886	C	T	BRCA1	c.5468-67G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41197886C>T	(Likely) benign	1 lab	73adc9d391
11:62458870 BSCL2 A>G	11	62458870	62458870	A	G	BSCL2	c.695T>C	NM_032667.6	NP_116056.3:p.(Met232Thr)	NC_000011.9:g.62458870A>G	VUS	1 lab	0268fe42a5
2:234669115 UGT1A1 C>G	2	234669115	234669115	C	G	UGT1A1	c.182C>G	NM_000463.2	NP_000454.1:p.(Ala61Gly)	NC_000002.11:g.234669115C>G	VUS	1 lab	73b01bf36a
17:73775204 H3-3B G>A	17	73775204	73775204	G	A	H3-3B	c.52C>T	NM_005324.5	NP_005315.1:p.(Arg18Cys)	NC_000017.10:g.73775204G>A	(Likely) pathogenic	1 lab	73b0a8e0be
4:114257871 ANK2 AG>A	4	114257871	114257872	AG	A	ANK2	c.3731del	NM_001148.4	NP_001139.3:p.(Ser1244MetfsTer5)	NC_000004.11:g.114257872del	(Likely) pathogenic	1 lab	73b0bc6210
7:92157802 PEX1 G>C	7	92157802	92157802	G	C	PEX1	c.-53C>G	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92157802G>C	(Likely) benign	1 lab	73b2151bb4
17:29585519 NF1 A>T	17	29585519	29585519	A	T	NF1	c.4331A>T	NM_001042492.3	NP_001035957.1:p.(Lys1444Met)	NC_000017.10:g.29585519A>T	(Likely) pathogenic	1 lab	73b7b5f9f8
22:24134002 SMARCB1 G>A	22	24134002	24134002	G	A	SMARCB1	c.153G>A	NM_003073.3	NP_003064.2:p.(Trp51Ter)	NC_000022.10:g.24134002G>A	(Likely) pathogenic	1 lab	73b7b744a2
13:20763332 GJB2 C>G	13	20763332	20763332	C	G	GJB2	c.389G>C	NM_004004.6	NP_003995.2:p.(Gly130Ala)	NC_000013.10:g.20763332C>G	VUS	1 lab	73b9dc2464
20:6060087 FERMT1 C>T	20	6060087	6060087	C	T	FERMT1	c.1856G>A	NM_017671.5	NP_060141.3:p.(Arg619Gln)	NC_000020.10:g.6060087C>T	(Likely) benign	1 lab	0b36e55e00
15:38643481 SPRED1 A>T	15	38643481	38643481	A	T	SPRED1	c.951A>T	NM_152594.3	NP_689807.1:p.(Ser317=)	NC_000015.9:g.38643481A>T	(Likely) benign	1 lab	73bfdfb2a7
14:23888742 MYH7 C>G	14	23888742	23888742	C	G	MYH7	c.3803G>C	NM_000257.3	NP_000248.2:p.(Arg1268Pro)	NC_000014.8:g.23888742C>G	VUS	1 lab	73c03ee69f
1:201341174 TNNT2 T>C	1	201341174	201341174	T	C	TNNT2	c.53-5A>G	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341174T>C	(Likely) benign	1 lab	73c43cbd56
2:166756481 TTC21B C>T	2	166756481	166756481	C	T	TTC21B	c.2758-91G>A	NM_024753.5	NP_079029.3:p.?	NC_000002.11:g.166756481C>T	(Likely) benign	1 lab	0b37ab909a
1:152278560 FLG T>G	1	152278560	152278560	T	G	FLG	c.8802A>C	NM_002016.2	NP_002007.1:p.(Gln2934His)	NC_000001.10:g.152278560T>G	(Likely) benign	1 lab	73c8202c5d
14:23884966 MYH7 G>A	14	23884966	23884966	G	A	MYH7	c.5029C>T	NM_000257.4	NP_000248.2:p.(Arg1677Cys)	NC_000014.8:g.23884966G>A	VUS	1 lab	73c8f1a9e2
1:236906209 ACTN2 C>A	1	236906209	236906209	C	A	ACTN2	c.1121C>A	NM_001103.2	NP_001094.1:p.(Ala374Asp)	NC_000001.10:g.236906209C>A	VUS	1 lab	73cb6762b9
3:129202348 IFT122 A>G	3	129202348	129202348	A	G	IFT122				NC_000003.11:g.129202348A>G	(Likely) benign	1 lab	73ccfd9049
12:50348425 AQP2 G>A	12	50348425	50348425	G	A	AQP2	c.538G>A	NM_000486.5	NP_000477.1:p.(Gly180Ser)	NC_000012.11:g.50348425G>A	(Likely) pathogenic	1 lab	73cda4ef0d
12:52310002 ACVRL1 C>T	12	52310002	52310002	C	T	ACVRL1	c.1231C>T	NM_000020.2	NP_000011.2:p.(Arg411Trp)	NC_000012.11:g.52310002C>T	(Likely) pathogenic	1 lab	0b4704055f
19:13135961 NFIX G>A	19	13135961	13135961	G	A	NFIX	c.178G>A	NM_001271043.2	NP_001257972.1:p.(Glu60Lys)	NC_000019.9:g.13135961G>A	(Likely) pathogenic	1 lab	73ce596d7e
17:60599592 TLK2 C>T	17	60599592	60599592	C	T	TLK2	c.181C>T	NM_006852.3	NP_006843.2:p.(Arg61Ter)	NC_000017.10:g.60599592C>T	(Likely) pathogenic	1 lab	73ce7558ed
15:43069296 TTBK2 T>C	15	43069296	43069296	T	C	TTBK2				NC_000015.9:g.43069296T>C	VUS	1 lab	73cea96194
17:29490288 NF1 CG>C	17	29490288	29490289	CG	C	NF1	c.374del	NM_000267.3	NP_000258.1:p.(Arg125LeufsTer40)	NC_000017.10:g.29490289del	(Likely) pathogenic	1 lab	026cb8c41d
5:1878417 IRX4 G>C	5	1878417	1878417	G	C	IRX4	c.1304C>G	NM_001278633.1	NP_001265562.1:p.(Ala435Gly)	NC_000005.9:g.1878417G>C	(Likely) benign	1 lab	73d52be1c4
5:112154997 APC G>A	5	112154997	112154997	G	A	APC	c.1268G>A	NM_000038.6	NP_000029.2:p.(Trp423Ter)	NC_000005.9:g.112154997G>A	(Likely) pathogenic	1 lab	73d62c8f04
2:179616552 TTN A>G	2	179616552	179616552	A	G	TTN	c.10575T>C	NM_133379.4	NP_596870.2:p.(Cys3525=)	NC_000002.11:g.179616552A>G	(Likely) benign	1 lab	73d877f765
17:18024169 MYO15A G>CC	17	18024169	18024169	G	CC	MYO15A	c.2055delinsCC	NM_016239.4	NP_057323.3:p.(Gly686ArgfsTer294)	NC_000017.10:g.18024169delinsCC	(Likely) pathogenic	1 lab	73d9a7af0b
3:45542083 LARS2 T>C	3	45542083	45542083	T	C	LARS2	c.1760+12T>C	NM_015340.3	NP_056155.1:p.?	NC_000003.11:g.45542083T>C	(Likely) benign	1 lab	73df20e7ce
4:88989171 PKD2 G>A	4	88989171	88989171	G	A	PKD2	c.2480G>A	NM_000297.4	NP_000288.1:p.(Arg827Lys)	NC_000004.11:g.88989171G>A	(Likely) benign	1 lab	0b3a1fdbde
14:36987084 NKX2-1 T>G	14	36987084	36987084	T	G	NKX2-1	c.605A>C	NM_001079668.3	NP_001073136.1:p.(Gln202Pro)	NC_000014.8:g.36987084T>G	(Likely) pathogenic	1 lab	73dfe8883d
16:2153872 PKD1 G>A	16	2153872	2153872	G	A	PKD1	c.8186C>T	NM_001009944.2	NP_001009944.2:p.(Ser2729Leu)	NC_000016.9:g.2153872G>A	(Likely) benign	1 lab	0b3ce38a82
2:166243265 SCN2A C>T	2	166243265	166243265	C	T	SCN2A	c.4561C>T	NM_001040142.1	NP_001035232.1:p.(Gln1521Ter)	NC_000002.11:g.166243265C>T	(Likely) pathogenic	1 lab	73e0e256ee
8:95390578 RAD54B T>C	8	95390578	95390578	T	C	RAD54B	c.2345A>G	NM_012415.3	NP_036547.1:p.(Gln782Arg)	NC_000008.10:g.95390578T>C	VUS	1 lab	73e64cce02
1:216462754 USH2A T>C	1	216462754	216462754	T	C	USH2A	c.1841-2A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216462754T>C	(Likely) pathogenic	1 lab	73e79e5100
1:220338075 RAB3GAP2 C>A	1	220338075	220338075	C	A	RAB3GAP2	c.3154G>T	NM_012414.3	NP_036546.2:p.(Gly1052Cys)	NC_000001.10:g.220338075C>A	(Likely) pathogenic	1 lab	73ed1bf2ac
11:76910834 MYO7A T>C	11	76910834	76910834	T	C	MYO7A	c.4823T>C	NM_000260.3	NP_000251.3:p.(Val1608Ala)	NC_000011.9:g.76910834T>C	VUS	1 lab	73edc746e5
5:14871543 ANKH G>A	5	14871543	14871543	G	A	ANKH	c.14C>T	NM_054027.4	NP_473368.1:p.(Pro5Leu)	NC_000005.9:g.14871543G>A	(Likely) pathogenic	1 lab	73ee54d57c
8:72184037 EYA1 G>A	8	72184037	72184037	G	A	EYA1	c.922C>T	NM_172058.2	NP_742055.1:p.(Arg308Ter)	NC_000008.10:g.72184037G>A	(Likely) pathogenic	1 lab	73f78fd547
12:81067025 PTPRQ A>G	12	81067025	81067025	A	G	PTPRQ	c.6680A>G	NM_001145026.2	NP_001138498.1:p.(Asp2227Gly)	NC_000012.11:g.81067025A>G	VUS	1 lab	73f8a319d4
17:5433803 NLRP1 T>C	17	5433803	5433803	T	C	NLRP1	c.3518A>G	NM_033004.4	NP_127497.1:p.(Gln1173Arg)	NC_000017.10:g.5433803T>C	(Likely) benign	1 lab	0b40511546
16:3828099 CREBBP G>A	16	3828099	3828099	G	A	CREBBP	c.2026C>T	NM_004380.3	NP_004371.2:p.(Gln676Ter)	NC_000016.9:g.3828099G>A	(Likely) pathogenic	1 lab	73fab1b760
1:216462717 USH2A G>A	1	216462717	216462717	G	A	USH2A	c.1876C>T	NM_206933.2	NP_996816.2:p.(Arg626Ter)	NC_000001.10:g.216462717G>A	(Likely) pathogenic	1 lab	73fefae05f
7:128483917 FLNC T>G	7	128483917	128483917	T	G	FLNC	c.2879T>G	NM_001458.5	NP_001449.3:p.(Val960Gly)	NC_000007.13:g.128483917T>G	VUS	1 lab	74015ce338
2:179411390 TTN C>T	2	179411390	179411390	C	T	TTN	c.94765G>A	NM_001267550.2	NP_001254479.2:p.(Ala31589Thr)	NC_000002.11:g.179411390C>T	VUS	1 lab	7401e85b40
4:981736 IDUA A>G	4	981736	981736	A	G	IDUA	c.298A>G	NM_000203.4	NP_000194.2:p.(Arg100Gly)	NC_000004.11:g.981736A>G	(Likely) pathogenic	1 lab	7402c42f6a
9:129377838 LMX1B G>A	9	129377838	129377838	G	A	LMX1B	c.316G>A	NM_002316.3	NP_002307.2:p.(Asp106Asn)	NC_000009.11:g.129377838G>A	(Likely) pathogenic	1 lab	7405433eff
10:78782794 KCNMA1 C>T	10	78782794	78782794	C	T	KCNMA1	c.1940+2410G>A	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78782794C>T	(Likely) benign	1 lab	0b480d74df
16:89261432 CDH15 C>T	16	89261432	89261432	C	T	CDH15				NC_000016.9:g.89261432C>T	VUS	1 lab	7b011f0de1
12:2692016 CACNA1C T>C	12	2692016	2692016	T	C	CACNA1C	c.2132T>C	NM_000719.7	NP_000710.5:p.(Val711Ala)	NC_000012.11:g.2692016T>C	VUS	1 lab	740a02f305
4:4864609 MSX1 G>C	4	4864609	4864609	G	C	MSX1	c.651G>C	NM_002448.3	NP_002439.2:p.(Lys217Asn)	NC_000004.11:g.4864609G>C	VUS	1 lab	740bae0102
16:2153560 PKD1 G>A	16	2153560	2153560	G	A	PKD1	c.8498C>T	NM_001009944.3	NP_001009944.3:p.(Pro2833Leu)	NC_000016.9:g.2153560G>A	(Likely) pathogenic	1 lab	740e1fc45f
13:32929231 BRCA2 C>A	13	32929231	32929231	C	A	BRCA2	c.7241C>A	NM_000059.4	NP_000050.3:p.(Ser2414Ter)	NC_000013.10:g.32929231C>A	(Likely) pathogenic	1 lab	0277e1d37f
11:47364210 MYBPC3 T>TG	11	47364210	47364211	T	TG	MYBPC3	c.1542dup	NM_000256.3	NP_000247.2:p.(Asn515GlnfsTer16)	NC_000011.9:g.47364211dup	VUS	1 lab	740fffdb4c
4:3495283 DOK7 C>G	4	3495283	3495283	C	G	DOK7	c.*55C>G	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3495283C>G	(Likely) benign	1 lab	741086414a
2:48915871 STON1-GTF2A1L A>G	2	48915871	48915871	A	G	STON1-GTF2A1L				NC_000002.11:g.48915871A>G	(Likely) benign	1 lab	74119b72d0
18:56008373 NEDD4L C>G	18	56008373	56008373	C	G	NEDD4L	c.1229C>G	NM_001144967.2	NP_001138439.1:p.(Thr410Ser)	NC_000018.9:g.56008373C>G	(Likely) benign	1 lab	7418572e7c
1:10397576 KIF1B T>C	1	10397576	10397576	T	C	KIF1B	c.3269T>C	NM_015074.3	NP_055889.2:p.(Ile1090Thr)	NC_000001.10:g.10397576T>C	(Likely) benign	1 lab	027a825616
15:44887609 SPG11 C>A	15	44887609	44887609	C	A	SPG11				NC_000015.9:g.44887609C>A	(Likely) pathogenic	1 lab	741b81eb02
X:153640394 TAFAZZIN G>T	X	153640394	153640394	G	T	TAFAZZIN	c.110-29G>T	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640394G>T	(Likely) benign	1 lab	741c0deba6
X:152990995 BCAP31 G>A	X	152990995	152990995	G	A	BCAP31				NC_000023.10:g.152990995G>A	(Likely) benign	1 lab	741c2fd9ce
1:156104392 LMNA C>T	1	156104392	156104392	C	T	LMNA	c.639+73C>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156104392C>T	(Likely) benign	1 lab	7420642398
X:43571995 MAOA G>A	X	43571995	43571995	G	A	MAOA				NC_000023.10:g.43571995G>A	(Likely) pathogenic	1 lab	7420768f14
2:219526568 BCS1L C>T	2	219526568	219526568	C	T	BCS1L	c.547C>T	NM_001079866.2	NP_001073335.1:p.(Arg183Cys)	NC_000002.11:g.219526568C>T	(Likely) pathogenic	1 lab	742258fdfc
1:12018681 PLOD1 A>G	1	12018681	12018681	A	G	PLOD1	c.952A>G	NM_000302.3	NP_000293.2:p.(Met318Val)	NC_000001.10:g.12018681A>G	VUS	1 lab	7424d5ab8b
X:153196242 NAA10 G>A	X	153196242	153196242	G	A	NAA10	c.445C>T	NM_003491.3	NP_003482.1:p.(Arg149Trp)	NC_000023.10:g.153196242G>A	VUS	1 lab	74261f0d95
5:112128170 APC GA>G	5	112128170	112128174	GA	G	APC	c.677del	NM_000038.6	NP_000029.2:p.(Lys226ArgfsTer67)	NC_000005.9:g.112128174del	(Likely) pathogenic	1 lab	7427f3f4c2
14:35593133 PRORP G>A	14	35593133	35593133	G	A	PRORP	c.682G>A	NM_014672.4	NP_055487.2:p.(Glu228Lys)	NC_000014.8:g.35593133G>A	VUS	1 lab	7428a282b5
16:15811031 MYH11 C>T	16	15811031	15811031	C	T	MYH11	c.5491G>A	NM_001040113.2	NP_001035202.1:p.(Ala1831Thr)	NC_000016.9:g.15811031C>T	VUS	1 lab	0b4e6cc159
19:38956849 RYR1 C>T	19	38956849	38956849	C	T	RYR1	c.2989C>T	NM_000540.2	NP_000531.2:p.(Arg997Ter)	NC_000019.9:g.38956849C>T	(Likely) pathogenic	1 lab	7429c806b7
6:32796751 TAP2 T>C	6	32796751	32796751	T	C	TAP2	c.1993A>G	NM_001290043.2	NP_001276972.1:p.(Thr665Ala)	NC_000006.11:g.32796751T>C	(Likely) benign	1 lab	027fe63c83
6:149699825 TAB2 T>C	6	149699825	149699825	T	C	TAB2	c.774T>C	NM_015093.5	NP_055908.1:p.(Thr258=)	NC_000006.11:g.149699825T>C	(Likely) benign	1 lab	742f92779b
2:56098226 EFEMP1 G>A	2	56098226	56098226	G	A	EFEMP1	c.1033C>T	NM_001039348.3	NP_001034437.1:p.(Arg345Trp)	NC_000002.11:g.56098226G>A	(Likely) pathogenic	1 lab	7431cd8277
11:17482207 ABCC8 C>T	11	17482207	17482207	C	T	ABCC8	c.839G>A	NM_001287174.1	NP_001274103.1:p.(Gly280Asp)	NC_000011.9:g.17482207C>T	VUS	1 lab	7432cbb3d0
1:228459873 OBSCN C>T	1	228459873	228459873	C	T	OBSCN	c.5937C>T	NM_001271223.2	NP_001258152.2:p.(Tyr1979=)	NC_000001.10:g.228459873C>T	(Likely) benign	1 lab	7433ab7a36
17:41245967 BRCA1 C>T	17	41245967	41245967	C	T	BRCA1	c.1581G>A	NM_007294.3	NP_009225.1:p.(Lys527=)	NC_000017.10:g.41245967C>T	(Likely) benign	1 lab	7434839ea6
15:45357501 SORD C>A	15	45357501	45357501	C	A	SORD	c.458C>A	NM_003104.6	NP_003095.2:p.(Ala153Asp)	NC_000015.9:g.45357501C>A	(Likely) pathogenic	1 lab	743ce21060
7:128038512 IMPDH1 G>A	7	128038512	128038512	G	A	IMPDH1	c.1030C>T	NM_000883.3	NP_000874.2:p.(Arg344Cys)	NC_000007.13:g.128038512G>A	VUS	1 lab	743deb1c0f
17:41228590 BRCA1 G>A	17	41228590	41228590	G	A	BRCA1	c.4399C>T	NM_007294.3	NP_009225.1:p.(Gln1467Ter)	NC_000017.10:g.41228590G>A	(Likely) pathogenic	1 lab	7441c2675a
2:179457896 TTN A>G	2	179457896	179457896	A	G	TTN	c.59035+4T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179457896A>G	(Likely) benign	1 lab	7443035581
1:215940137 USH2A A>C	1	215940137	215940137	A	C	USH2A	c.10940-7T>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215940137A>C	(Likely) benign	1 lab	7445669f3f
19:13616999 CACNA1A C>T	19	13616999	13616999	C	T	CACNA1A				NC_000019.9:g.13616999C>T	VUS	1 lab	7446bba68f
1:78407833 NEXN A>G	1	78407833	78407833	A	G	NEXN	c.1599A>G	NM_144573.3	NP_653174.3:p.(Glu533=)	NC_000001.10:g.78407833A>G	(Likely) benign	1 lab	0b51d2a0cd
3:124352692 KALRN C>A	3	124352692	124352692	C	A	KALRN	c.5461-4C>A	NM_001024660.5	NP_001019831.2:p.?	NC_000003.11:g.124352692C>A	(Likely) benign	1 lab	028783c08d
2:228128655 COL4A3 C>T	2	228128655	228128655	C	T	COL4A3	c.1310C>T	NM_000091.5	NP_000082.2:p.(Pro437Leu)	NC_000002.11:g.228128655C>T	(Likely) benign	1 lab	744fdb6010
12:103240714 PAH A>G	12	103240714	103240714	A	G	PAH	c.928T>C	NM_000277.3	NP_000268.1:p.(Ser310Pro)	NC_000012.11:g.103240714A>G	(Likely) pathogenic	1 lab	7453d97276
20:3565366 ATRN C>A	20	3565366	3565366	C	A	ATRN				NC_000020.10:g.3565366C>A	VUS	1 lab	7454807ba1
2:219526232 BCS1L A>G	2	219526232	219526232	A	G	BCS1L	c.424A>G	NM_004328.5	NP_004319.1:p.(Thr142Ala)	NC_000002.11:g.219526232A>G	VUS	1 lab	7456f94d5f
X:153588567 FLNA G>A	X	153588567	153588567	G	A	FLNA	c.3596C>T	NM_001110556.2	NP_001104026.1:p.(Ser1199Leu)	NC_000023.10:g.153588567G>A	(Likely) pathogenic	1 lab	7457553b23
19:38951157 RYR1 G>T	19	38951157	38951157	G	T	RYR1	c.2503G>T	NM_000540.2	NP_000531.2:p.(Gly835Trp)	NC_000019.9:g.38951157G>T	VUS	1 lab	745b24d2df
5:74011333 HEXB A>G	5	74011333	74011333	A	G	HEXB	c.902-2A>G	NM_000521.3	NP_000512.1:p.?	NC_000005.9:g.74011333A>G	(Likely) pathogenic	1 lab	745f0d6a7e
17:43552692 PLEKHM1 C>T	17	43552692	43552692	C	T	PLEKHM1	c.697G>A	NM_014798.3	NP_055613.1:p.(Glu233Lys)	NC_000017.10:g.43552692C>T	VUS	1 lab	0288a97cc6
10:21250601 NEBL A>G	10	21250601	21250601	A	G	NEBL	c.357T>C	NM_213569.2	NP_998734.1:p.(Asn119=)	NC_000010.10:g.21250601A>G	(Likely) benign	1 lab	74632fe77f
2:167301285 SCN7A T>C	2	167301285	167301285	T	C	SCN7A	c.1613A>G	NM_002976.4	NP_002967.2:p.(Asn538Ser)	NC_000002.11:g.167301285T>C	(Likely) benign	1 lab	7463f394be
2:179592447 TTN A>G	2	179592447	179592447	A	G	TTN	c.18907T>C	NM_001256850.1	NP_001243779.1:p.(Cys6303Arg)	NC_000002.11:g.179592447A>G	VUS	1 lab	02898263d4
8:61749379 CHD7 C>A	8	61749379	61749379	C	A	CHD7	c.3993C>A	NM_017780.3	NP_060250.2:p.(Tyr1331Ter)	NC_000008.10:g.61749379C>A	(Likely) pathogenic	1 lab	7467278cde
1:78399088 NEXN G>A	1	78399088	78399088	G	A	NEXN	c.1175G>A	NM_144573.3	NP_653174.3:p.(Arg392Gln)	NC_000001.10:g.78399088G>A	VUS	1 lab	74680cea14
8:61774804 CHD7 G>A	8	61774804	61774804	G	A	CHD7				NC_000008.10:g.61774804G>A	VUS	1 lab	7468a37c92
2:200173504 SATB2 C>G	2	200173504	200173504	C	G	SATB2	c.1719G>C	NM_015265.3	NP_056080.1:p.(Gln573His)	NC_000002.11:g.200173504C>G	VUS	1 lab	746b9ce5f9
16:78149212 WWOX A>G	16	78149212	78149212	A	G	WWOX	c.409+161A>G	NM_016373.4	NP_057457.1:p.?	NC_000016.9:g.78149212A>G	(Likely) benign	1 lab	028b275627
17:59853809 BRIP1 A>G	17	59853809	59853809	A	G	BRIP1	c.2050T>C	NM_032043.3	NP_114432.2:p.(Cys684Arg)	NC_000017.10:g.59853809A>G	VUS	1 lab	746c987c58
3:52485478 TNNC1 A>T	3	52485478	52485478	A	T	TNNC1	c.383T>A	NM_003280.2	NP_003271.1:p.(Ile128Asn)	NC_000003.11:g.52485478A>T	VUS	1 lab	746df5e4a8
11:108121632 ATM A>C	11	108121632	108121632	A	C	ATM	c.1440A>C	NM_000051.3	NP_000042.3:p.(Leu480Phe)	NC_000011.9:g.108121632A>C	VUS	1 lab	7470b3b9b3
8:41571692 ANK1 G>T	8	41571692	41571692	G	T	ANK1	c.1881C>A	NM_001142446.2	NP_001135918.1:p.(Ser627=)	NC_000008.10:g.41571692G>T	(Likely) benign	1 lab	0b551ae4b1
11:76912560 MYO7A C>T	11	76912560	76912560	C	T	MYO7A	c.4920C>T	NM_000260.3	NP_000251.3:p.(Gly1640=)	NC_000011.9:g.76912560C>T	VUS	1 lab	74731dae09
17:41244343 BRCA1 G>A	17	41244343	41244343	G	A	BRCA1	c.3205C>T	NM_007294.3	NP_009225.1:p.(Gln1069Ter)	NC_000017.10:g.41244343G>A	(Likely) pathogenic	1 lab	7474adef68
11:61727031 BEST1 T>C	11	61727031	61727031	T	C	BEST1	c.929T>C	NM_004183.3	NP_004174.1:p.(Ile310Thr)	NC_000011.9:g.61727031T>C	(Likely) pathogenic	1 lab	7477e5b7e3
3:37070424 MLH1 G>C	3	37070424	37070424	G	C	MLH1	c.1558+1G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37070424G>C	(Likely) pathogenic	1 lab	747850cee2
10:73544638 CDH23 A>G	10	73544638	73544638	A	G	CDH23	c.5503-10A>G	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73544638A>G	(Likely) benign	1 lab	7479564a2c
16:68863752 CDH1 G>A	16	68863752	68863752	G	A	CDH1	c.2439+52G>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68863752G>A	(Likely) benign	1 lab	747bad1da4
16:9857542 GRIN2A T>A	16	9857542	9857542	T	A	GRIN2A	c.3859A>T	NM_000833.5	NP_000824.1:p.(Ser1287Cys)	NC_000016.9:g.9857542T>A	VUS	1 lab	747fca08a3
4:27019368 STIM2 A>T	4	27019368	27019368	A	T	STIM2	c.1525A>T	NM_001169117.2	NP_001162588.1:p.(Ser509Cys)	NC_000004.11:g.27019368A>T	VUS	1 lab	0b57c49718
4:151769986 LRBA C>A	4	151769986	151769986	C	A	LRBA	c.4323G>T	NM_001199282.2	NP_001186211.2:p.(Arg1441=)	NC_000004.11:g.151769986C>A	(Likely) benign	1 lab	34f84ecd53
3:47891240 DHX30 C>T	3	47891240	47891240	C	T	DHX30	c.3195C>T	NM_014966.3	NP_055781.2:p.(Asp1065=)	NC_000003.11:g.47891240C>T	(Likely) benign	1 lab	748bc28732
X:41437664 CASK C>A	X	41437664	41437664	C	A	CASK	c.1432G>T	NM_003688.3	NP_003679.2:p.(Gly478Ter)	NC_000023.10:g.41437664C>A	(Likely) pathogenic	1 lab	748c27af1a
3:38593056 SCN5A G>GAAAC	3	38593056	38593062	G	GAAAC	SCN5A	c.4814-11_4814-8dup	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38593059_38593062dup	VUS	1 lab	748c9a3c06
7:42079821 GLI3 G>T	7	42079821	42079821	G	T	GLI3	c.844C>A	NM_000168.5	NP_000159.3:p.(Pro282Thr)	NC_000007.13:g.42079821G>T	VUS	1 lab	74ad3563eb
4:114275852 ANK2 A>T	4	114275852	114275852	A	T	ANK2	c.6078A>T	NM_001148.5	NP_001139.3:p.(Lys2026Asn)	NC_000004.11:g.114275852A>T	(Likely) benign	1 lab	748d120d81
11:108383930 EXPH5 CT>C	11	108383930	108383936	CT	C	EXPH5	c.2303del	NM_015065.3	NP_055880.2:p.(Lys768SerfsTer66)	NC_000011.9:g.108383936del	(Likely) pathogenic	1 lab	028c11c7dc
22:21349759 LZTR1 G>A	22	21349759	21349759	G	A	LZTR1	c.1943-276G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21349759G>A	VUS	1 lab	748f89d80a
2:179569305 TTN A>T	2	179569305	179569305	A	T	TTN	c.29894T>A	NM_001267550.2	NP_001254479.2:p.(Leu9965His)	NC_000002.11:g.179569305A>T	(Likely) benign	1 lab	7496af00e4
16:23641517 PALB2 C>A	16	23641517	23641517	C	A	PALB2	c.1958G>T	NM_024675.3	NP_078951.2:p.(Cys653Phe)	NC_000016.9:g.23641517C>A	(Likely) benign	1 lab	7497eed77f
1:103468767 COL11A1 A>T	1	103468767	103468767	A	T	COL11A1	c.1998+4T>A	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103468767A>T	(Likely) benign	1 lab	74b60e7c44
9:127253435 NR5A1 C>T	9	127253435	127253435	C	T	NR5A1	c.1063G>A	NM_004959.5	NP_004950.2:p.(Val355Met)	NC_000009.11:g.127253435C>T	VUS	1 lab	028e37dc2f
10:121411161 BAG3 G>T	10	121411161	121411161	G	T	BAG3	c.-27G>T	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121411161G>T	(Likely) benign	1 lab	749d971247
17:18039998 MYO15A G>A	17	18039998	18039998	G	A	MYO15A	c.4777G>A	NM_016239.3	NP_057323.3:p.(Glu1593Lys)	NC_000017.10:g.18039998G>A	VUS	1 lab	749dad9f27
22:28196326 MN1 C>A	22	28196326	28196326	C	A	MN1	c.206G>T	NM_002430.3	NP_002421.3:p.(Gly69Val)	NC_000022.10:g.28196326C>A	(Likely) benign	1 lab	028f74e913
2:179410980 TTN G>T	2	179410980	179410980	G	T	TTN	c.95078C>A	NM_001267550.2	NP_001254479.2:p.(Ala31693Asp)	NC_000002.11:g.179410980G>T	(Likely) benign	1 lab	74a7c9da3e
1:152282952 FLG A>G	1	152282952	152282952	A	G	FLG	c.4410T>C	NM_002016.1	NP_002007.1:p.(His1470=)	NC_000001.10:g.152282952A>G	(Likely) benign	1 lab	74aae2ea89
2:179449833 TTN C>G	2	179449833	179449833	C	G	TTN	c.64638G>C	NM_001267550.2	NP_001254479.2:p.(Gly21546=)	NC_000002.11:g.179449833C>G	(Likely) benign	1 lab	74ab2c18b4
15:63353404 TPM1 C>A	15	63353404	63353404	C	A	TPM1	c.571C>A	NM_000366.5	NP_000357.3:p.(Arg191=)	NC_000015.9:g.63353404C>A	VUS	1 lab	74acba9f8b
6:31929014 SKIC2 A>C	6	31929014	31929014	A	C	SKIC2	c.640A>C	NM_006929.5	NP_008860.4:p.(Met214Leu)	NC_000006.11:g.31929014A>C	(Likely) benign	1 lab	028f8ee6dd
11:108224628 C11orf65 G>C	11	108224628	108224628	G	C	C11orf65				NC_000011.9:g.108224628G>C	(Likely) benign	1 lab	757e2ec2b6
17:7577141 TP53 C>T	17	7577141	7577141	C	T	TP53	c.797G>A	NM_000546.6	NP_000537.3:p.(Gly266Glu)	NC_000017.10:g.7577141C>T	(Likely) pathogenic	1 lab	74ae9c3960
15:100247043 MEF2A C>T	15	100247043	100247043	C	T	MEF2A	c.974C>T	NM_005587.2	NP_005578.2:p.(Pro325Leu)	NC_000015.9:g.100247043C>T	VUS	1 lab	74af902e14
3:14860616 FGD5 C>T	3	14860616	14860616	C	T	FGD5	c.38C>T	NM_152536.3	NP_689749.3:p.(Pro13Leu)	NC_000003.11:g.14860616C>T	VUS	1 lab	74afe4c6f2
6:86259441 SNX14 C>A	6	86259441	86259441	C	A	SNX14	c.791G>T	NM_153816.3	NP_722523.1:p.(Arg264Ile)	NC_000006.11:g.86259441C>A	(Likely) pathogenic	1 lab	74b429239d
17:15964737 NCOR1 T>G	17	15964737	15964737	T	G	NCOR1				NC_000017.10:g.15964737T>G	(Likely) benign	1 lab	74b60d3a79
X:153219643 HCFC1 C>G	X	153219643	153219643	C	G	HCFC1				NC_000023.10:g.153219643C>G	VUS	1 lab	b57e85b458
2:74128557 ACTG2 G>A	2	74128557	74128557	G	A	ACTG2	c.119G>A	NM_001615.3	NP_001606.1:p.(Arg40His)	NC_000002.11:g.74128557G>A	(Likely) pathogenic	1 lab	74b7571933
15:64716258 TRIP4 C>CA	15	64716258	64716259	C	CA	TRIP4	c.1388dup	NM_016213.4	NP_057297.2:p.(His463GlnfsTer12)	NC_000015.9:g.64716259dup	(Likely) pathogenic	1 lab	74b9d849d4
1:237872335 RYR2 C>T	1	237872335	237872335	C	T	RYR2	c.10079C>T	NM_001035.2	NP_001026.2:p.(Thr3360Ile)	NC_000001.10:g.237872335C>T	(Likely) pathogenic	1 lab	74bec9b124
2:179424281 TTN CTT>C	2	179424281	179424284	CTT	C	TTN	c.86576_86577del	NM_001267550.2	NP_001254479.2:p.(Lys28859ArgfsTer11)	NC_000002.11:g.179424283_179424284del	(Likely) pathogenic	1 lab	74c2e55225
9:95484933 BICD2 C>T	9	95484933	95484933	C	T	BICD2	c.606+5G>A	NM_001003800.1	NP_001003800.1:p.?	NC_000009.11:g.95484933C>T	VUS	1 lab	74c7f8d8e5
1:197404165 CRB1 G>T	1	197404165	197404165	G	T	CRB1	c.3172G>T	NM_201253.3	NP_957705.1:p.(Glu1058Ter)	NC_000001.10:g.197404165G>T	(Likely) pathogenic	1 lab	74cb0f15bb
8:72211953 EYA1 T>C	8	72211953	72211953	T	C	EYA1	c.559A>G	NM_000503.6	NP_000494.2:p.(Ser187Gly)	NC_000008.10:g.72211953T>C	VUS	1 lab	0291d85143
1:100316589 AGL A>G	1	100316589	100316589	A	G	AGL	c.-10A>G	NM_000028.2	NP_000019.2:p.?	NC_000001.10:g.100316589A>G	(Likely) benign	1 lab	044faf8f41
16:23641040 PALB2 G>A	16	23641040	23641040	G	A	PALB2	c.2435C>T	NM_024675.3	NP_078951.2:p.(Pro812Leu)	NC_000016.9:g.23641040G>A	VUS	1 lab	74d67868f4
1:152283283 FLG C>T	1	152283283	152283283	C	T	FLG	c.4079G>A	NM_002016.1	NP_002007.1:p.(Arg1360His)	NC_000001.10:g.152283283C>T	(Likely) benign	1 lab	74dcf00a6c
X:41448766 CASK A>G	X	41448766	41448766	A	G	CASK	c.1233+2T>C	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41448766A>G	VUS	1 lab	74dd40c14b
2:179485303 TTN C>A	2	179485303	179485303	C	A	TTN	c.45945G>T	NM_001267550.2	NP_001254479.2:p.(Glu15315Asp)	NC_000002.11:g.179485303C>A	VUS	1 lab	74e06a731b
10:74968494 FAM149B1 C>T	10	74968494	74968494	C	T	FAM149B1	c.660C>T	NM_173348.2	NP_775483.1:p.(Ile220=)	NC_000010.10:g.74968494C>T	(Likely) benign	1 lab	0b5bbfaf31
2:166003501 SCN3A A>G	2	166003501	166003501	A	G	SCN3A	c.1419T>C	NM_006922.4	NP_008853.3:p.(Ser473=)	NC_000002.11:g.166003501A>G	(Likely) benign	1 lab	74e4e26cbe
3:70014071 MITF T>C	3	70014071	70014071	T	C	MITF	c.932T>C	NM_000248.3	NP_000239.1:p.(Val311Ala)	NC_000003.11:g.70014071T>C	VUS	1 lab	74e97159a5
6:51924725 PKHD1 C>T	6	51924725	51924725	C	T	PKHD1	c.1233+1G>A	NM_138694.3	NP_619639.3:p.?	NC_000006.11:g.51924725C>T	(Likely) pathogenic	1 lab	74ea15b5e4
3:38671768 SCN5A G>T	3	38671768	38671768	G	T	SCN5A	c.392+34C>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38671768G>T	(Likely) benign	1 lab	74f04edf7a
5:112164587 APC G>A	5	112164587	112164587	G	A	APC	c.1661G>A	NM_000038.6	NP_000029.2:p.(Arg554Gln)	NC_000005.9:g.112164587G>A	VUS	1 lab	74f0ec6650
2:170062078 LRP2 G>C	2	170062078	170062078	G	C	LRP2	c.7626C>G	NM_004525.2	NP_004516.2:p.(Arg2542=)	NC_000002.11:g.170062078G>C	(Likely) benign	1 lab	74f0f2ad19
1:94506923 ABCA4 C>T	1	94506923	94506923	C	T	ABCA4	c.3364G>A	NM_000350.2	NP_000341.2:p.(Glu1122Lys)	NC_000001.10:g.94506923C>T	(Likely) pathogenic	1 lab	74f16096fa
12:49316910 FKBP11 A>G	12	49316910	49316910	A	G	FKBP11	c.388+655T>C	NM_016594.3	NP_057678.1:p.?	NC_000012.11:g.49316910A>G	VUS	1 lab	12233f710d
2:48025936 MSH6 G>T	2	48025936	48025936	G	T	MSH6	c.814G>T	NM_000179.2	NP_000170.1:p.(Glu272Ter)	NC_000002.11:g.48025936G>T	(Likely) pathogenic	1 lab	74f44a1ac1
22:30032864 NF2 AG>A	22	30032864	30032866	AG	A	NF2	c.240+1del	NM_181832.3	NP_861970.1:p.?	NC_000022.10:g.30032866del	(Likely) pathogenic	1 lab	04503971ff
6:76558136 MYO6 G>A	6	76558136	76558136	G	A	MYO6	c.966G>A	NM_004999.4	NP_004990.3:p.(Thr322=)	NC_000006.11:g.76558136G>A	(Likely) benign	1 lab	74f90dd728
11:10785975 CTR9 G>A	11	10785975	10785975	G	A	CTR9	c.1405G>A	NM_014633.3	NP_055448.1:p.(Glu469Lys)	NC_000011.9:g.10785975G>A	VUS	1 lab	74fb19dfc0
1:38463466 FHL3 G>A	1	38463466	38463466	G	A	FHL3	c.578C>T	NM_004468.4	NP_004459.2:p.(Thr193Met)	NC_000001.10:g.38463466G>A	VUS	1 lab	74ffb5936c
1:94586601 ABCA4 T>C	1	94586601	94586601	T	C	ABCA4	c.1A>G	NM_000350.2	NP_000341.2:p.(Met1?)	NC_000001.10:g.94586601T>C	(Likely) pathogenic	1 lab	7500c8ee42
1:169511740 F5 G>C	1	169511740	169511740	G	C	F5	c.2588C>G	NM_000130.4	NP_000121.2:p.(Ala863Gly)	NC_000001.10:g.169511740G>C	(Likely) pathogenic	1 lab	7503bc1716
2:228563540 SLC19A3 G>C	2	228563540	228563540	G	C	SLC19A3	c.891C>G	NM_025243.3	NP_079519.1:p.(Asn297Lys)	NC_000002.11:g.228563540G>C	VUS	1 lab	750428299a
6:42936161 PEX6 G>A	6	42936161	42936161	G	A	PEX6	c.1555C>T	NM_000287.4	NP_000278.3:p.(Arg519Cys)	NC_000006.11:g.42936161G>A	VUS	1 lab	029db4e7f4
10:102783241 PDZD7 C>A	10	102783241	102783241	C	A	PDZD7	c.494G>T	NM_001195263.1	NP_001182192.1:p.(Arg165Leu)	NC_000010.10:g.102783241C>A	VUS	1 lab	750770a8bf
17:18055194 MYO15A G>A	17	18055194	18055194	G	A	MYO15A	c.7822G>A	NM_016239.3	NP_057323.3:p.(Asp2608Asn)	NC_000017.10:g.18055194G>A	VUS	1 lab	75078acf32
6:118877833 PLN T>A	6	118877833	118877833	T	A	PLN	c.-97-2155T>A	NM_002667.5	NP_002658.1:p.?	NC_000006.11:g.118877833T>A	(Likely) benign	1 lab	029db74e13
2:61717810 XPO1 T>G	2	61717810	61717810	T	G	XPO1	c.1989A>C	NM_003400.4	NP_003391.1:p.(Gln663His)	NC_000002.11:g.61717810T>G	VUS	1 lab	02a27c028a
19:39038920 RYR1 G>A	19	39038920	39038920	G	A	RYR1	c.12142G>A	NM_000540.3	NP_000531.2:p.(Val4048Met)	NC_000019.9:g.39038920G>A	VUS	1 lab	750efb113d
19:39066494 RYR1 C>T	19	39066494	39066494	C	T	RYR1	c.14130-65C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39066494C>T	(Likely) benign	1 lab	0b6116ff39
9:4286392 GLIS3 G>A	9	4286392	4286392	G	A	GLIS3	c.34C>T	NM_001042413.1	NP_001035878.1:p.(Arg12Trp)	NC_000009.11:g.4286392G>A	VUS	1 lab	750fd3fd99
X:17393986 NHS C>T	X	17393986	17393986	C	T	NHS	c.106C>T	NM_198270.3	NP_938011.1:p.(Pro36Ser)	NC_000023.10:g.17393986C>T	VUS	1 lab	751448103f
9:129455522 LMX1B C>T	9	129455522	129455522	C	T	LMX1B				NC_000009.11:g.129455522C>T	(Likely) pathogenic	1 lab	7514c3cb34
X:107824243 COL4A5 C>T	X	107824243	107824243	C	T	COL4A5	c.922C>T	NM_033380.2	NP_203699.1:p.(Gln308Ter)	NC_000023.10:g.107824243C>T	(Likely) pathogenic	1 lab	75178ad283
6:85457779 TBX18 G>T	6	85457779	85457779	G	T	TBX18	c.798C>A	NM_001080508.3	NP_001073977.1:p.(Tyr266Ter)	NC_000006.11:g.85457779G>T	(Likely) pathogenic	1 lab	7518c25ae1
3:130714955 ATP2C1 C>T	3	130714955	130714955	C	T	ATP2C1	c.2126C>T	NM_014382.3	NP_055197.2:p.(Thr709Met)	NC_000003.11:g.130714955C>T	(Likely) pathogenic	1 lab	751b7e0109
5:112173582 APC T>G	5	112173582	112173582	T	G	APC				NC_000005.9:g.112173582T>G	(Likely) pathogenic	1 lab	751e216bcf
16:2152875 PKD1 A>G	16	2152875	2152875	A	G	PKD1	c.8888T>C	NM_001009944.3	NP_001009944.3:p.(Ile2963Thr)	NC_000016.9:g.2152875A>G	VUS	1 lab	752042c9ef
3:38938694 SCN11A T>A	3	38938694	38938694	T	A	SCN11A	c.2045A>T	NM_014139.2	NP_054858.2:p.(Lys682Ile)	NC_000003.11:g.38938694T>A	VUS	1 lab	7520bfe804
5:112173312 APC TG>T	5	112173312	112173313	TG	T	APC	c.2022del	NM_000038.6	NP_000029.2:p.(Thr675GlnfsTer2)	NC_000005.9:g.112173313del	(Likely) pathogenic	1 lab	7522016343
3:8775657 CAV3 T>C	3	8775657	8775657	T	C	CAV3	c.95T>C	NM_001234.4	NP_001225.1:p.(Ile32Thr)	NC_000003.11:g.8775657T>C	VUS	1 lab	752343be81
10:75758132 VCL G>C	10	75758132	75758132	G	C	VCL	c.167G>C	NM_014000.2	NP_054706.1:p.(Arg56Pro)	NC_000010.10:g.75758132G>C	VUS	1 lab	752568538f
13:32937441 BRCA2 C>T	13	32937441	32937441	C	T	BRCA2	c.8102C>T	NM_000059.3	NP_000050.2:p.(Ser2701Phe)	NC_000013.10:g.32937441C>T	VUS	1 lab	75261df748
X:2867406 ARSL G>A	X	2867406	2867406	G	A	ARSL	c.793C>T	NM_000047.3	NP_000038.2:p.(Pro265Ser)	NC_000023.10:g.2867406G>A	VUS	1 lab	7526746041
16:56226265 GNAO1 G>C	16	56226265	56226265	G	C	GNAO1				NC_000016.9:g.56226265G>C	(Likely) pathogenic	1 lab	75297b569e
11:76900495 MYO7A C>A	11	76900495	76900495	C	A	MYO7A	c.3610C>A	NM_000260.4	NP_000251.3:p.(Pro1204Thr)	NC_000011.9:g.76900495C>A	(Likely) pathogenic	1 lab	752d2bfb8c
8:61757421 CHD7 A>T	8	61757421	61757421	A	T	CHD7				NC_000008.10:g.61757421A>T	(Likely) pathogenic	1 lab	7532cd9c23
17:59793394 BRIP1 G>C	17	59793394	59793394	G	C	BRIP1	c.2410C>G	NM_032043.2	NP_114432.2:p.(His804Asp)	NC_000017.10:g.59793394G>C	VUS	1 lab	753c329abf
X:128722241 OCRL G>A	X	128722241	128722241	G	A	OCRL				NC_000023.10:g.128722241G>A	(Likely) benign	1 lab	753fbce220
11:88924546 TYR G>A	11	88924546	88924546	G	A	TYR	c.996G>A	NM_000372.4	NP_000363.1:p.(Met332Ile)	NC_000011.9:g.88924546G>A	(Likely) pathogenic	1 lab	7544e4c4b5
1:241663826 FH C>T	1	241663826	241663826	C	T	FH	c.1301G>A	NM_000143.3	NP_000134.2:p.(Cys434Tyr)	NC_000001.10:g.241663826C>T	(Likely) pathogenic	1 lab	7547156222
2:166245787 SCN2A C>A	2	166245787	166245787	C	A	SCN2A	c.5471C>A	NM_021007.3	NP_066287.2:p.(Ala1824Asp)	NC_000002.11:g.166245787C>A	VUS	1 lab	0b6875c4f6
1:865545 SAMD11 G>A	1	865545	865545	G	A	SAMD11	c.83G>A	NM_152486.3	NP_689699.2:p.(Arg28Gln)	NC_000001.10:g.865545G>A	(Likely) benign	1 lab	754bc1afb4
9:131718655 NUP188 C>G	9	131718655	131718655	C	G	NUP188	c.188C>G	NM_015354.3	NP_056169.1:p.(Ala63Gly)	NC_000009.11:g.131718655C>G	VUS	1 lab	02a90f7715
6:49580194 RHAG C>T	6	49580194	49580194	C	T	RHAG	c.861G>A	NM_000324.2	NP_000315.2:p.(Ala287=)	NC_000006.11:g.49580194C>T	(Likely) benign	1 lab	0b6a649b7b
X:153296681 MECP2 T>G	X	153296681	153296681	T	G	MECP2	c.598A>C	NM_004992.3	NP_004983.1:p.(Lys200Gln)	NC_000023.10:g.153296681T>G	VUS	1 lab	754e86882d
17:39768561 KRT16 C>T	17	39768561	39768561	C	T	KRT16	c.380G>A	NM_005557.4	NP_005548.2:p.(Arg127His)	NC_000017.10:g.39768561C>T	(Likely) pathogenic	1 lab	754f26a6b8
2:186657701 FSIP2 T>G	2	186657701	186657701	T	G	FSIP2	c.5838T>G	NM_173651.4	NP_775922.3:p.(Phe1946Leu)	NC_000002.11:g.186657701T>G	VUS	1 lab	02a93814c6
22:24133958 SMARCB1 C>T	22	24133958	24133958	C	T	SMARCB1	c.109C>T	NM_003073.5	NP_003064.2:p.(Arg37Cys)	NC_000022.10:g.24133958C>T	VUS	1 lab	02ad4f0aa3
13:32932041 BRCA2 A>T	13	32932041	32932041	A	T	BRCA2	c.7780A>T	NM_000059.3	NP_000050.2:p.(Lys2594Ter)	NC_000013.10:g.32932041A>T	(Likely) pathogenic	1 lab	7551dda960
17:41209133 BRCA1 C>G	17	41209133	41209133	C	G	BRCA1	c.5213G>C	NM_007294.4	NP_009225.1:p.(Gly1738Ala)	NC_000017.10:g.41209133C>G	VUS	1 lab	02af39299e
4:170359365 NEK1 T>TC	4	170359365	170359366	T	TC	NEK1	c.2548dup	NM_012224.4	NP_036356.1:p.(Glu850GlyfsTer10)	NC_000004.11:g.170359366dup	(Likely) pathogenic	1 lab	02afbf2f63
X:153421945 OPN1LW G>A	X	153421945	153421945	G	A	OPN1LW	c.921G>A	NM_020061.5	NP_064445.2:p.(Pro307=)	NC_000023.10:g.153421945G>A	VUS	1 lab	7559ace2aa
15:43904038 STRC A>C	15	43904038	43904038	A	C	STRC	c.3099+2T>G	NM_153700.2	NP_714544.1:p.?	NC_000015.9:g.43904038A>C	(Likely) pathogenic	1 lab	755a46534a
9:139399261 NOTCH1 T>A	9	139399261	139399261	T	A	NOTCH1	c.4882A>T	NM_017617.4	NP_060087.3:p.(Lys1628Ter)	NC_000009.11:g.139399261T>A	(Likely) pathogenic	1 lab	755a813a0e
7:6414400 RAC1 G>T	7	6414400	6414400	G	T	RAC1	c.34G>T	NM_006908.5	NP_008839.2:p.(Gly12Ter)	NC_000007.13:g.6414400G>T	(Likely) pathogenic	1 lab	755b24ca27
14:23852532 MYH6 GGGGGTGGGA>G	14	23852532	23852544	GGGGGTGGGA	G	MYH6	c.5566-12_5566-4del	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852536_23852544del	(Likely) benign	1 lab	755b46d31c
11:31816211 PAX6 A>G	11	31816211	31816211	A	G	PAX6	c.649T>C	NM_000280.6	NP_000271.1:p.(Phe217Leu)	NC_000011.9:g.31816211A>G	VUS	1 lab	755d6c73d1
22:21342392 LZTR1 G>A	22	21342392	21342392	G	A	LZTR1	c.494G>A	NM_006767.3	NP_006758.2:p.(Trp165Ter)	NC_000022.10:g.21342392G>A	(Likely) pathogenic	1 lab	755d9a677f
6:7568676 DSP C>T	6	7568676	7568676	C	T	DSP	c.1273C>T	NM_004415.4	NP_004406.2:p.(Arg425Ter)	NC_000006.11:g.7568676C>T	(Likely) pathogenic	1 lab	02b1f505f6
8:38279388 FGFR1 T>C	8	38279388	38279388	T	C	FGFR1	c.1008A>G	NM_023110.2	NP_075598.2:p.(Ala336=)	NC_000008.10:g.38279388T>C	(Likely) benign	1 lab	0b6dee6729
11:64519062 PYGM T>C	11	64519062	64519062	T	C	PYGM	c.1827+7A>G	NM_005609.3	NP_005600.1:p.?	NC_000011.9:g.64519062T>C	(Likely) benign	1 lab	7564b80fe9
13:110850831 COL4A1 C>G	13	110850831	110850831	C	G	COL4A1	c.1268G>C	NM_001845.4	NP_001836.2:p.(Gly423Ala)	NC_000013.10:g.110850831C>G	VUS	1 lab	7564ccf9e0
6:118881469 PLN G>A	6	118881469	118881469	G	A	PLN	c.*1226G>A	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118881469G>A	(Likely) benign	1 lab	7564f2934d
13:32912047 BRCA2 A>G	13	32912047	32912047	A	G	BRCA2	c.3555A>G	NM_000059.3	NP_000050.2:p.(Thr1185=)	NC_000013.10:g.32912047A>G	(Likely) benign	1 lab	75652045d5
17:60028340 MED13 A>G	17	60028340	60028340	A	G	MED13	c.6137T>C	NM_005121.3	NP_005112.2:p.(Leu2046Pro)	NC_000017.10:g.60028340A>G	VUS	1 lab	756705120f
1:114376985 PTPN22 A>T	1	114376985	114376985	A	T	PTPN22	c.1971T>A	NM_015967.6	NP_057051.3:p.(Gly657=)	NC_000001.10:g.114376985A>T	(Likely) benign	1 lab	0b6ef0cb53
X:130415840 IGSF1 C>T	X	130415840	130415840	C	T	IGSF1				NC_000023.10:g.130415840C>T	VUS	1 lab	756f67186e
X:153594766 FLNA C>T	X	153594766	153594766	C	T	FLNA	c.1138G>A	NM_001456.3	NP_001447.2:p.(Asp380Asn)	NC_000023.10:g.153594766C>T	VUS	1 lab	757182a5fe
3:127339654 MCM2 G>A	3	127339654	127339654	G	A	MCM2	c.2379G>A	NM_004526.4	NP_004517.2:p.(Met793Ile)	NC_000003.11:g.127339654G>A	VUS	1 lab	7572e97690
4:114267062 ANK2 G>A	4	114267062	114267062	G	A	ANK2	c.4255G>A	NM_001148.5	NP_001139.3:p.(Asp1419Asn)	NC_000004.11:g.114267062G>A	VUS	1 lab	757375cb08
6:33141464 COL11A2 C>T	6	33141464	33141464	C	T	COL11A2	c.2628+14G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33141464C>T	(Likely) benign	1 lab	7575749d6a
16:23641727 PALB2 A>G	16	23641727	23641727	A	G	PALB2	c.1748T>C	NM_024675.3	NP_078951.2:p.(Leu583Ser)	NC_000016.9:g.23641727A>G	VUS	1 lab	7575ef1afa
6:32006074 CYP21A2 C>T	6	32006074	32006074	C	T	CYP21A2				NC_000006.11:g.32006074C>T	(Likely) pathogenic	1 lab	7578117218
21:46602551 ADARB1 G>A	21	46602551	46602551	G	A	ADARB1	c.1130G>A	NM_001112.4	NP_001103.1:p.(Cys377Tyr)	NC_000021.8:g.46602551G>A	(Likely) pathogenic	1 lab	7578ba8967
8:61757939 CHD7 C>G	8	61757939	61757939	C	G	CHD7				NC_000008.10:g.61757939C>G	(Likely) pathogenic	1 lab	757a68a74d
15:43299402 UBR1 G>A	15	43299402	43299402	G	A	UBR1	c.3290C>T	NM_174916.2	NP_777576.1:p.(Thr1097Met)	NC_000015.9:g.43299402G>A	VUS	1 lab	757ca3dd95
2:179594433 TTN C>T	2	179594433	179594433	C	T	TTN	c.18547G>A	NM_001267550.2	NP_001254479.2:p.(Asp6183Asn)	NC_000002.11:g.179594433C>T	VUS	1 lab	02b8418864
X:49084554 CACNA1F G>GC	X	49084554	49084555	G	GC	CACNA1F	c.1061dup	NM_005183.3	NP_005174.2:p.(Ser354ArgfsTer70)	NC_000023.10:g.49084555dup	(Likely) pathogenic	1 lab	757ce91eed
3:8787164 CAV3 AAGCGGGTGGCTTCTGTG>A	3	8787164	8787183	AAGCGGGTGGCTTCTGTG	A	CAV3	c.115-45_115-29del	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8787167_8787183del	(Likely) benign	1 lab	757ecb420d
3:38739728 SCN10A G>A	3	38739728	38739728	G	A	SCN10A	c.4983C>T	NM_006514.4	NP_006505.4:p.(Ala1661=)	NC_000003.11:g.38739728G>A	(Likely) benign	1 lab	757ee71898
3:37089081 MLH1 T>A	3	37089081	37089081	T	A	MLH1	c.1803T>A	NM_000249.4	NP_000240.1:p.(Asp601Glu)	NC_000003.11:g.37089081T>A	VUS	1 lab	02bef7f36a
12:32945495 PKP2 C>T	12	32945495	32945495	C	T	PKP2	c.2578-69G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945495C>T	(Likely) benign	1 lab	7584b238f1
1:3331187 PRDM16 G>A	1	3331187	3331187	G	A	PRDM16	c.2667G>A	NM_022114.3	NP_071397.3:p.(Pro889=)	NC_000001.10:g.3331187G>A	(Likely) benign	1 lab	7585b3b1d3
19:49705335 TRPM4 T>A	19	49705335	49705335	T	A	TRPM4	c.3068T>A	NM_017636.3	NP_060106.2:p.(Leu1023His)	NC_000019.9:g.49705335T>A	VUS	1 lab	7587317605
17:44110442 KANSL1 T>C	17	44110442	44110442	T	C	KANSL1	c.2837+4A>G	NM_001193466.1	NP_001180395.1:p.?	NC_000017.10:g.44110442T>C	(Likely) pathogenic	1 lab	758851d377
2:220096748 ANKZF1 AACC>A	2	220096748	220096755	AACC	A	ANKZF1	c.252_254del	NM_018089.3	NP_060559.2:p.(His84del)	NC_000002.11:g.220096753_220096755del	(Likely) benign	1 lab	02c62f5a0b
1:46657884 POMGNT1 C>T	1	46657884	46657884	C	T	POMGNT1	c.1425G>A	NM_001243766.1	NP_001230695.1:p.(Trp475Ter)	NC_000001.10:g.46657884C>T	(Likely) pathogenic	1 lab	02c8005653
15:89862499 POLG G>C	15	89862499	89862499	G	C	POLG	c.3064C>G	NM_002693.3	NP_002684.1:p.(Leu1022Val)	NC_000015.9:g.89862499G>C	VUS	1 lab	02c9f8f082
3:37089237 MLH1 T>C	3	37089237	37089237	T	C	MLH1	c.1896+63T>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37089237T>C	(Likely) benign	1 lab	758b437381
16:68847297 CDH1 C>T	16	68847297	68847297	C	T	CDH1	c.1219C>T	NM_004360.3	NP_004351.1:p.(Pro407Ser)	NC_000016.9:g.68847297C>T	(Likely) benign	1 lab	758bf0d66c
19:42759150 ERF A>G	19	42759150	42759150	A	G	ERF	c.2T>C	NM_006494.3	NP_006485.2:p.(Met1?)	NC_000019.9:g.42759150A>G	(Likely) pathogenic	1 lab	75942829b0
10:96702047 CYP2C9 C>T	10	96702047	96702047	C	T	CYP2C9	c.430C>T	NM_000771.4	NP_000762.2:p.(Arg144Cys)	NC_000010.10:g.96702047C>T	(Likely) benign	1 lab	02cdc97b01
17:56774156 RAD51C G>A	17	56774156	56774156	G	A	RAD51C	c.507G>A	NM_058216.2	NP_478123.1:p.(Val169=)	NC_000017.10:g.56774156G>A	(Likely) benign	1 lab	7597a83efb
2:241737081 KIF1A A>G	2	241737081	241737081	A	G	KIF1A	c.89T>C	NM_001244008.1	NP_001230937.1:p.(Met30Thr)	NC_000002.11:g.241737081A>G	VUS	1 lab	7598b4f327
12:112926248 PTPN11 G>A	12	112926248	112926248	G	A	PTPN11	c.1381G>A	NM_002834.3	NP_002825.3:p.(Ala461Thr)	NC_000012.11:g.112926248G>A	(Likely) pathogenic	1 lab	759a4dde09
10:94372892 KIF11 G>A	10	94372892	94372892	G	A	KIF11	c.789+5G>A	NM_004523.3	NP_004514.2:p.?	NC_000010.10:g.94372892G>A	(Likely) pathogenic	1 lab	759b77b3a5
2:47630222 MSH2 G>A	2	47630222	47630222	G	A	MSH2	c.-109G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47630222G>A	VUS	1 lab	759b99ce0c
10:78850254 KCNMA1 C>T	10	78850254	78850254	C	T	KCNMA1	c.1238G>A	NM_001161352.1	NP_001154824.1:p.(Cys413Tyr)	NC_000010.10:g.78850254C>T	VUS	1 lab	759bf14cb0
6:112476115 LAMA4 T>C	6	112476115	112476115	T	C	LAMA4	c.1994A>G	NM_001105206.3	NP_001098676.2:p.(His665Arg)	NC_000006.11:g.112476115T>C	(Likely) benign	1 lab	0b6fa92dfe
10:131671811 EBF3 G>C	10	131671811	131671811	G	C	EBF3	c.686C>G	NM_001005463.3	NP_001005463.1:p.(Ser229Ter)	NC_000010.10:g.131671811G>C	(Likely) pathogenic	1 lab	75a0def546
18:31320169 ASXL3 T>G	18	31320169	31320169	T	G	ASXL3	c.2801T>G	NM_030632.1	NP_085135.1:p.(Leu934Ter)	NC_000018.9:g.31320169T>G	(Likely) benign	1 lab	75a11fcafd
6:157522294 ARID1B T>A	6	157522294	157522294	T	A	ARID1B	c.4566T>A	NM_020732.3	NP_065783.3:p.(Tyr1522Ter)	NC_000006.11:g.157522294T>A	(Likely) pathogenic	1 lab	75a47c8556
13:32972735 BRCA2 T>G	13	32972735	32972735	T	G	BRCA2	c.10085T>G	NM_000059.3	NP_000050.2:p.(Phe3362Cys)	NC_000013.10:g.32972735T>G	(Likely) benign	1 lab	75a6d6520d
16:58554873 CNOT1 C>CT	16	58554873	58554874	C	CT	CNOT1	c.7119dup	NM_016284.5	NP_057368.3:p.(Gly2374ArgfsTer16)	NC_000016.9:g.58554874dup	(Likely) pathogenic	1 lab	75a712d968
16:3781218 CREBBP G>A	16	3781218	3781218	G	A	CREBBP	c.5147C>T	NM_004380.3	NP_004371.2:p.(Thr1716Met)	NC_000016.9:g.3781218G>A	VUS	1 lab	75a7a3595d
17:7578212 TP53 G>A	17	7578212	7578212	G	A	TP53	c.637C>T	NM_000546.5	NP_000537.3:p.(Arg213Ter)	NC_000017.10:g.7578212G>A	(Likely) pathogenic	1 lab	75a81d2fe1
14:23898991 MYH7 G>A	14	23898991	23898991	G	A	MYH7	c.1131C>T	NM_000257.4	NP_000248.2:p.(Gly377=)	NC_000014.8:g.23898991G>A	(Likely) benign	1 lab	75aac893c6
1:84649744 PRKACB C>A	1	84649744	84649744	C	A	PRKACB	c.403C>A	NM_182948.4	NP_891993.1:p.(His135Asn)	NC_000001.10:g.84649744C>A	(Likely) pathogenic	1 lab	75b0b07c5a
16:89348483 ANKRD11 CCT>C	16	89348483	89348485	CCT	C	ANKRD11	c.4465_4466del	NM_013275.6	NP_037407.4:p.(Arg1489GlyfsTer64)	NC_000016.9:g.89348484_89348485del	(Likely) pathogenic	1 lab	75b4d2afad
11:67926017 KMT5B TC>T	11	67926017	67926021	TC	T	KMT5B	c.1795del	NM_017635.5	NP_060105.3:p.(Glu599ArgfsTer22)	NC_000011.9:g.67926021del	(Likely) pathogenic	1 lab	75b5b3f3d9
14:23894063 MYH7 T>C	14	23894063	23894063	T	C	MYH7	c.2594A>G	NM_000257.4	NP_000248.2:p.(Lys865Arg)	NC_000014.8:g.23894063T>C	(Likely) pathogenic	1 lab	75b91117b6
12:53069234 KRT1 CGTAGCTGCTACCT>C	12	53069234	53069247	CGTAGCTGCTACCT	C	KRT1	c.1665_1677del	NM_006121.4	NP_006112.3:p.(Gly556AlafsTer54)	NC_000012.11:g.53069235_53069247del	VUS	1 lab	02d68ca6e3
12:110783892 ATP2A2 A>G	12	110783892	110783892	A	G	ATP2A2	c.2828A>G	NM_001681.3	NP_001672.1:p.(His943Arg)	NC_000012.11:g.110783892A>G	(Likely) pathogenic	1 lab	75ba0067ca
9:36882051 PAX5 G>T	9	36882051	36882051	G	T	PAX5	c.962C>A	NM_016734.3	NP_057953.1:p.(Pro321His)	NC_000009.11:g.36882051G>T	(Likely) pathogenic	1 lab	75bc0e10db
17:37650845 CDK12 C>T	17	37650845	37650845	C	T	CDK12	c.2317C>T	NM_016507.4	NP_057591.2:p.(Arg773Cys)	NC_000017.10:g.37650845C>T	VUS	1 lab	75bcdf15ae
5:61648410 KIF2A T>G	5	61648410	61648410	T	G	KIF2A	c.335-5T>G	NM_001098511.3	NP_001091981.1:p.?	NC_000005.9:g.61648410T>G	(Likely) benign	1 lab	02d7a4a3c1
7:6777369 PMS2CL T>C	7	6777369	6777369	T	C	PMS2CL	n.748T>C	NR_002217.1		NC_000007.13:g.6777369T>C	(Likely) benign	1 lab	75be3913d6
8:42693251 THAP1 C>T	8	42693251	42693251	C	T	THAP1	c.496G>A	NM_018105.2	NP_060575.1:p.(Ala166Thr)	NC_000008.10:g.42693251C>T	VUS	1 lab	75be817859
19:14031437 CC2D1A C>T	19	14031437	14031437	C	T	CC2D1A	c.1424C>T	NM_017721.5	NP_060191.3:p.(Ser475Leu)	NC_000019.9:g.14031437C>T	VUS	1 lab	02d8a9a54a
3:10183781 VHL G>C	3	10183781	10183781	G	C	VHL	c.250G>C	NM_000551.3	NP_000542.1:p.(Val84Leu)	NC_000003.11:g.10183781G>C	(Likely) pathogenic	1 lab	75c068bef8
6:31997401 C4B G>A	6	31997401	31997401	G	A	C4B	c.3735G>A	NM_001002029.3	NP_001002029.3:p.(Pro1245=)	NC_000006.11:g.31997401G>A	(Likely) benign	1 lab	75c68e12f8
1:110738296 SLC6A17 G>A	1	110738296	110738296	G	A	SLC6A17	c.1581G>A	NM_001010898.2	NP_001010898.1:p.(Ser527=)	NC_000001.10:g.110738296G>A	(Likely) benign	1 lab	75c6f2e8b2
9:371428 DOCK8 G>T	9	371428	371428	G	T	DOCK8	c.1869G>T	NM_203447.3	NP_982272.2:p.(Lys623Asn)	NC_000009.11:g.371428G>T	VUS	1 lab	75c9d98061
9:114489962 MISSING A>C	9	114489962	114489962	A	C	MISSING				NC_000009.11:g.114489962A>C	(Likely) pathogenic	1 lab	75cc56ce45
4:186066134 SLC25A4 T>C	4	186066134	186066134	T	C	SLC25A4	c.328T>C	NM_001151.4	NP_001142.2:p.(Trp110Arg)	NC_000004.11:g.186066134T>C	VUS	1 lab	75cf88b7a6
3:41267273 CTNNB1 T>A	3	41267273	41267273	T	A	CTNNB1	c.857T>A	NM_001904.4	NP_001895.1:p.(Leu286His)	NC_000003.11:g.41267273T>A	VUS	1 lab	75cfba08b3
2:216235046 FN1 C>T	2	216235046	216235046	C	T	FN1	c.6824G>A	NM_212482.2	NP_997647.1:p.(Arg2275Gln)	NC_000002.11:g.216235046C>T	(Likely) benign	1 lab	0b74e9fe24
2:179413588 TTN G>A	2	179413588	179413588	G	A	TTN	c.92765C>T	NM_001267550.2	NP_001254479.2:p.(Ala30922Val)	NC_000002.11:g.179413588G>A	(Likely) benign	1 lab	75d2a94327
20:31379461 DNMT3B G>T	20	31379461	31379461	G	T	DNMT3B	c.868G>T	NM_006892.3	NP_008823.1:p.(Ala290Ser)	NC_000020.10:g.31379461G>T	(Likely) benign	1 lab	0b7c724cb5
12:6128707 VWF A>G	12	6128707	6128707	A	G	VWF	c.3877T>C	NM_000552.3	NP_000543.2:p.(Phe1293Leu)	NC_000012.11:g.6128707A>G	(Likely) pathogenic	1 lab	75d5ebf763
4:6303662 WFS1 A>C	4	6303662	6303662	A	C	WFS1	c.2140A>C	NM_006005.3	NP_005996.2:p.(Asn714His)	NC_000004.11:g.6303662A>C	VUS	1 lab	75d611fac6
10:26434453 MYO3A A>T	10	26434453	26434453	A	T	MYO3A	c.2495A>T	NM_017433.4	NP_059129.3:p.(Tyr832Phe)	NC_000010.10:g.26434453A>T	VUS	1 lab	75d732ea8d
12:21797029 LDHB A>G	12	21797029	21797029	A	G	LDHB	c.261T>C	NM_001174097.3	NP_001167568.1:p.(Thr87=)	NC_000012.11:g.21797029A>G	(Likely) benign	1 lab	02dcafc20a
3:176769406 TBL1XR1 G>A	3	176769406	176769406	G	A	TBL1XR1	c.313C>T	NM_024665.4	NP_078941.2:p.(Gln105Ter)	NC_000003.11:g.176769406G>A	(Likely) pathogenic	1 lab	75d9372a2b
2:145162575 ZEB2 G>T	2	145162575	145162575	G	T	ZEB2				NC_000002.11:g.145162575G>T	(Likely) pathogenic	1 lab	75daa33766
3:38622532 SCN5A C>G	3	38622532	38622532	C	G	SCN5A	c.3118G>C	NM_198056.2	NP_932173.1:p.(Gly1040Arg)	NC_000003.11:g.38622532C>G	(Likely) benign	1 lab	75daf1473e
X:153455670 OPN1MW G>A	X	153455670	153455670	G	A	OPN1MW	c.537G>A	NM_000513.2	NP_000504.1:p.(Trp179Ter)	NC_000023.10:g.153455670G>A	(Likely) pathogenic	1 lab	75e3c8714d
X:77380821 PGK1 C>T	X	77380821	77380821	C	T	PGK1	c.1115-3C>T	NM_000291.3	NP_000282.1:p.?	NC_000023.10:g.77380821C>T	VUS	1 lab	75e675d853
18:33736538 ELP2 G>A	18	33736538	33736538	G	A	ELP2				NC_000018.9:g.33736538G>A	(Likely) pathogenic	1 lab	75e7444a83
15:85370799 ALPK3 C>T	15	85370799	85370799	C	T	ALPK3	c.873C>T	NM_020778.4	NP_065829.3:p.(Ser291=)	NC_000015.9:g.85370799C>T	(Likely) benign	1 lab	0b7dd2c687
19:6697436 C3 G>A	19	6697436	6697436	G	A	C3	c.2715C>T	NM_000064.3	NP_000055.2:p.(Thr905=)	NC_000019.9:g.6697436G>A	(Likely) benign	1 lab	75ea706976
17:73727468 ITGB4 A>G	17	73727468	73727468	A	G	ITGB4	c.1215+19A>G	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73727468A>G	(Likely) benign	1 lab	0b8424e484
19:50753076 MYH14 G>A	19	50753076	50753076	G	A	MYH14	c.1652G>A	NM_001145809.1	NP_001139281.1:p.(Arg551Gln)	NC_000019.9:g.50753076G>A	(Likely) benign	1 lab	75ec6bceef
1:218609461 TGFB2 C>T	1	218609461	218609461	C	T	TGFB2	c.988C>T	NM_001135599.3	NP_001129071.1:p.(Arg330Cys)	NC_000001.10:g.218609461C>T	(Likely) pathogenic	1 lab	0b846f27db
15:73615401 HCN4 A>T	15	73615401	73615401	A	T	HCN4	c.3033T>A	NM_005477.2	NP_005468.1:p.(Ser1011=)	NC_000015.9:g.73615401A>T	(Likely) benign	1 lab	75f4e09421
16:89599044 SPG7 G>C	16	89599044	89599044	G	C	SPG7	c.1324G>C	NM_003119.3	NP_003110.1:p.(Gly442Arg)	NC_000016.9:g.89599044G>C	VUS	1 lab	75f7d7e0de
19:38986890 RYR1 C>T	19	38986890	38986890	C	T	RYR1	c.6584C>T	NM_000540.2	NP_000531.2:p.(Pro2195Leu)	NC_000019.9:g.38986890C>T	VUS	1 lab	75f85d303a
12:2778179 CACNA1C G>T	12	2778179	2778179	G	T	CACNA1C	c.4704G>T	NM_000719.6	NP_000710.5:p.(Thr1568=)	NC_000012.11:g.2778179G>T	(Likely) benign	1 lab	75fbda6997
1:147380222 GJA8 A>G	1	147380222	147380222	A	G	GJA8				NC_000001.10:g.147380222A>G	(Likely) pathogenic	1 lab	75fe414d61
12:111748354 CUX2 G>A	12	111748354	111748354	G	A	CUX2	c.1768G>A	NM_015267.3	NP_056082.2:p.(Glu590Lys)	NC_000012.11:g.111748354G>A	(Likely) pathogenic	1 lab	7600e27d00
5:112173386 APC TG>T	5	112173386	112173389	TG	T	APC	c.2098del	NM_000038.6	NP_000029.2:p.(Asp700ThrfsTer18)	NC_000005.9:g.112173389del	(Likely) pathogenic	1 lab	7602010a77
1:247587652 NLRP3 G>A	1	247587652	247587652	G	A	NLRP3	c.901G>A	NM_001243133.2	NP_001230062.1:p.(Gly301Ser)	NC_000001.10:g.247587652G>A	VUS	1 lab	0b849e467e
19:38959977 RYR1 C>G	19	38959977	38959977	C	G	RYR1	c.3589C>G	NM_000540.2	NP_000531.2:p.(Gln1197Glu)	NC_000019.9:g.38959977C>G	VUS	1 lab	760b825f93
19:7142811 INSR G>A	19	7142811	7142811	G	A	INSR	c.2542+16C>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7142811G>A	(Likely) benign	1 lab	124aeed16c
1:154960937 FLAD1 C>T	1	154960937	154960937	C	T	FLAD1	c.729C>T	NM_025207.5	NP_079483.3:p.(Phe243=)	NC_000001.10:g.154960937C>T	(Likely) benign	1 lab	0b868ac63f
8:61765606 CHD7 G>A	8	61765606	61765606	G	A	CHD7				NC_000008.10:g.61765606G>A	(Likely) pathogenic	1 lab	761118cf28
22:51159403 SHANK3 C>T	22	51159403	51159403	C	T	SHANK3	c.3367C>T	NM_001372044.2	NP_001358973.1:p.(Gln1123Ter)	NC_000022.10:g.51159403C>T	(Likely) pathogenic	1 lab	7612c4165b
21:44840283 SIK1 G>T	21	44840283	44840283	G	T	SIK1				NC_000021.8:g.44840283G>T	(Likely) benign	1 lab	7614839306
14:23857531 MYH6 G>A	14	23857531	23857531	G	A	MYH6	c.4192C>T	NM_002471.3	NP_002462.2:p.(Arg1398Trp)	NC_000014.8:g.23857531G>A	VUS	1 lab	76155d07c4
13:32921066 BRCA2 T>C	13	32921066	32921066	T	C	BRCA2	c.7007+33T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32921066T>C	(Likely) benign	1 lab	7615e4643b
X:148044460 AFF2 C>T	X	148044460	148044460	C	T	AFF2	c.2906C>T	NM_002025.3	NP_002016.2:p.(Ser969Leu)	NC_000023.10:g.148044460C>T	VUS	1 lab	76186f9a64
19:49699761 TRPM4 T>G	19	49699761	49699761	T	G	TRPM4	c.2275T>G	NM_017636.3	NP_060106.2:p.(Cys759Gly)	NC_000019.9:g.49699761T>G	(Likely) benign	1 lab	761938bac9
11:47355278 MYBPC3 C>T	11	47355278	47355278	C	T	MYBPC3	c.3020G>A	NM_000256.3	NP_000247.2:p.(Trp1007Ter)	NC_000011.9:g.47355278C>T	(Likely) pathogenic	1 lab	761a116be6
4:110678946 CFI A>G	4	110678946	110678946	A	G	CFI	c.884-7T>C	NM_000204.5	NP_000195.3:p.?	NC_000004.11:g.110678946A>G	(Likely) benign	1 lab	761ce3166b
7:132193244 PLXNA4 C>T	7	132193244	132193244	C	T	PLXNA4	c.209G>A	NM_020911.2	NP_065962.1:p.(Arg70Gln)	NC_000007.13:g.132193244C>T	VUS	1 lab	761de9035c
X:153648509 TAFAZZIN C>T	X	153648509	153648509	C	T	TAFAZZIN	c.647-42C>T	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648509C>T	(Likely) benign	1 lab	7624a4b3e8
19:38951167 RYR1 T>C	19	38951167	38951167	T	C	RYR1	c.2513T>C	NM_000540.2	NP_000531.2:p.(Leu838Pro)	NC_000019.9:g.38951167T>C	VUS	1 lab	7627f337ec
16:2168353 PKD1 A>T	16	2168353	2168353	A	T	PKD1	c.640T>A	NM_001009944.3	NP_001009944.3:p.(Cys214Ser)	NC_000016.9:g.2168353A>T	VUS	1 lab	762a461088
1:12059079 MFN2 T>A	1	12059079	12059079	T	A	MFN2	c.743T>A	NM_014874.3	NP_055689.1:p.(Leu248His)	NC_000001.10:g.12059079T>A	VUS	1 lab	76a8e82dc9
21:38862623 DYRK1A A>G	21	38862623	38862623	A	G	DYRK1A	c.811A>G	NM_001396.5	NP_001387.2:p.(Thr271Ala)	NC_000021.8:g.38862623A>G	(Likely) benign	1 lab	762f1ecc41
10:89623979 PTEN C>T	10	89623979	89623979	C	T	PTEN	c.-248C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623979C>T	(Likely) benign	1 lab	76313a3bcb
17:7755296 KDM6B C>A	17	7755296	7755296	C	A	KDM6B				NC_000017.10:g.7755296C>A	VUS	1 lab	7631d17405
10:1070621 IDI2 G>A	10	1070621	1070621	G	A	IDI2	c.43C>T	NM_033261.2	NP_150286.1:p.(Gln15Ter)	NC_000010.10:g.1070621G>A	(Likely) benign	1 lab	76326c0859
16:56904110 SLC12A3 C>T	16	56904110	56904110	C	T	SLC12A3	c.704C>T	NM_000339.3	NP_000330.3:p.(Thr235Met)	NC_000016.9:g.56904110C>T	VUS	1 lab	7633f4c7ed
X:53277329 IQSEC2 G>T	X	53277329	53277329	G	T	IQSEC2	c.2549C>A	NM_001111125.2	NP_001104595.1:p.(Ala850Asp)	NC_000023.10:g.53277329G>T	VUS	1 lab	7635040c22
5:121411147 LOX A>G	5	121411147	121411147	A	G	LOX	c.830T>C	NM_002317.7	NP_002308.2:p.(Phe277Ser)	NC_000005.9:g.121411147A>G	VUS	1 lab	0b8cb57575
4:47408741 GABRB1 T>C	4	47408741	47408741	T	C	GABRB1	c.878T>C	NM_000812.4	NP_000803.2:p.(Leu293Pro)	NC_000004.11:g.47408741T>C	(Likely) pathogenic	1 lab	76383f0b2c
2:179465831 TTN C>T	2	179465831	179465831	C	T	TTN	c.55800G>A	NM_001267550.2	NP_001254479.2:p.(Trp18600Ter)	NC_000002.11:g.179465831C>T	(Likely) pathogenic	1 lab	7638a49c54
6:35420422 FANCE C>T	6	35420422	35420422	C	T	FANCE	c.100C>T	NM_021922.3	NP_068741.1:p.(Gln34Ter)	NC_000006.11:g.35420422C>T	(Likely) pathogenic	1 lab	763b56b26e
14:50649298 SOS2 A>C	14	50649298	50649298	A	C	SOS2	c.741T>G	NM_006939.4	NP_008870.2:p.(Ile247Met)	NC_000014.8:g.50649298A>C	VUS	1 lab	763d016d64
X:53279957 IQSEC2 C>CA	X	53279957	53279958	C	CA	IQSEC2	c.1800dup	NM_001111125.2	NP_001104595.1:p.(Asp601Ter)	NC_000023.10:g.53279958dup	(Likely) pathogenic	1 lab	7640377ea0
14:23852531 MYH6 T>G	14	23852531	23852531	T	G	MYH6	c.5566-2A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852531T>G	(Likely) pathogenic	1 lab	7640917e0a
2:26702224 OTOF G>A	2	26702224	26702224	G	A	OTOF	c.2122C>T	NM_194248.2	NP_919224.1:p.(Arg708Ter)	NC_000002.11:g.26702224G>A	(Likely) pathogenic	1 lab	76412e0bb3
4:114279791 ANK2 G>A	4	114279791	114279791	G	A	ANK2	c.10017G>A	NM_001148.5	NP_001139.3:p.(Ala3339=)	NC_000004.11:g.114279791G>A	(Likely) benign	1 lab	7643c8b16f
2:179404688 TTN G>A	2	179404688	179404688	G	A	TTN	c.98104C>T	NM_001267550.2	NP_001254479.2:p.(Pro32702Ser)	NC_000002.11:g.179404688G>A	VUS	1 lab	764453f38b
1:229568748 ACTA1 G>C	1	229568748	229568748	G	C	ACTA1	c.115C>G	NM_001100.4	NP_001091.1:p.(Arg39Gly)	NC_000001.10:g.229568748G>C	(Likely) pathogenic	1 lab	7644e1bb48
4:100478534 TRMT10A C>CA	4	100478534	100478535	C	CA	TRMT10A	c.387_388insT	NM_001134665.2	NP_001128137.1:p.(Ala130CysfsTer27)	NC_000004.11:g.100478534_100478535insA	VUS	1 lab	764616317d
1:151337703 SELENBP1 C>T	1	151337703	151337703	C	T	SELENBP1	c.1099G>A	NM_003944.3	NP_003935.2:p.(Glu367Lys)	NC_000001.10:g.151337703C>T	(Likely) benign	1 lab	764744cd47
2:228110689 COL4A3 G>C	2	228110689	228110689	G	C	COL4A3	c.344G>C	NM_000091.4	NP_000082.2:p.(Gly115Ala)	NC_000002.11:g.228110689G>C	(Likely) pathogenic	1 lab	764bc09242
3:52366216 DNAH1 C>A	3	52366216	52366216	C	A	DNAH1	c.1092C>A	NM_015512.5	NP_056327.4:p.(Cys364Ter)	NC_000003.11:g.52366216C>A	(Likely) pathogenic	1 lab	764bec457e
X:18622486 CDKL5 C>T	X	18622486	18622486	C	T	CDKL5				NC_000023.10:g.18622486C>T	VUS	1 lab	764d37e839
18:48450519 ME2 C>T	18	48450519	48450519	C	T	ME2	c.1108C>T	NM_002396.5	NP_002387.1:p.(Pro370Ser)	NC_000018.9:g.48450519C>T	VUS	1 lab	0b8d8988e1
1:16375721 CLCNKB G>A	1	16375721	16375721	G	A	CLCNKB	c.762G>A	NM_000085.4	NP_000076.2:p.(Ala254=)	NC_000001.10:g.16375721G>A	(Likely) benign	1 lab	0b91772c1a
10:123260375 FGFR2 T>C	10	123260375	123260375	T	C	FGFR2	c.1529A>G	NM_022970.3	NP_075259.4:p.(Lys510Arg)	NC_000010.10:g.123260375T>C	VUS	1 lab	7652248b01
2:47690230 MSH2 G>T	2	47690230	47690230	G	T	MSH2	c.1447G>T	NM_000251.2	NP_000242.1:p.(Glu483Ter)	NC_000002.11:g.47690230G>T	(Likely) pathogenic	1 lab	76532b8ca2
19:3586593 GIPC3 A>G	19	3586593	3586593	A	G	GIPC3	c.326A>G	NM_133261.2	NP_573568.1:p.(Glu109Gly)	NC_000019.9:g.3586593A>G	VUS	1 lab	7655351659
10:89685266 MISSING T>C	10	89685266	89685266	T	C	MISSING				NC_000010.10:g.89685266T>C	(Likely) benign	1 lab	dbbd9c278b
10:112581113 RBM20 C>G	10	112581113	112581113	C	G	RBM20	c.2736C>G	NM_001134363.2	NP_001127835.2:p.(Asp912Glu)	NC_000010.10:g.112581113C>G	VUS	1 lab	76574733b7
3:151162794 IGSF10 T>G	3	151162794	151162794	T	G	IGSF10	c.4975A>C	NM_178822.4	NP_849144.2:p.(Thr1659Pro)	NC_000003.11:g.151162794T>G	VUS	1 lab	7659944e59
20:61448926 COL9A3 G>T	20	61448926	61448926	G	T	COL9A3	c.86G>T	NM_001853.4	NP_001844.3:p.(Gly29Val)	NC_000020.10:g.61448926G>T	VUS	1 lab	765a5abad4
2:167089899 SCN9A A>C	2	167089899	167089899	A	C	SCN9A	c.3842T>G	NM_002977.3	NP_002968.1:p.(Leu1281Arg)	NC_000002.11:g.167089899A>C	(Likely) pathogenic	1 lab	765aed2f9e
18:29116266 DSG2 G>A	18	29116266	29116266	G	A	DSG2	c.1525G>A	NM_001943.4	NP_001934.2:p.(Asp509Asn)	NC_000018.9:g.29116266G>A	(Likely) benign	1 lab	765af9fd7c
11:2906803 CDKN1C C>T	11	2906803	2906803	C	T	CDKN1C	c.-84G>A	NM_000076.2	NP_000067.1:p.?	NC_000011.9:g.2906803C>T	(Likely) benign	1 lab	766ac29855
10:88466355 LDB3 C>T	10	88466355	88466355	C	T	LDB3	c.964C>T	NM_007078.2	NP_009009.1:p.(Gln322Ter)	NC_000010.10:g.88466355C>T	(Likely) benign	1 lab	766c646472
6:51613184 PKHD1 C>T	6	51613184	51613184	C	T	PKHD1	c.9230G>A	NM_138694.3	NP_619639.3:p.(Trp3077Ter)	NC_000006.11:g.51613184C>T	(Likely) pathogenic	1 lab	7670ea5c77
10:69970160 MYPN C>T	10	69970160	69970160	C	T	MYPN	c.3911C>T	NM_032578.3	NP_115967.2:p.(Thr1304Met)	NC_000010.10:g.69970160C>T	VUS	1 lab	7673b832e9
18:42281347 SETBP1 AAG>A	18	42281347	42281351	AAG	A	SETBP1	c.39_40del	NM_015559.3	NP_056374.2:p.(Gly15ArgfsTer47)	NC_000018.9:g.42281350_42281351del	(Likely) pathogenic	1 lab	02e020adfe
4:187209674 F11 G>T	4	187209674	187209674	G	T	F11	c.1784G>T	NM_000128.3	NP_000119.1:p.(Trp595Leu)	NC_000004.11:g.187209674G>T	(Likely) pathogenic	1 lab	767b0d20b4
4:114274620 ANK2 T>C	4	114274620	114274620	T	C	ANK2	c.4846T>C	NM_001148.6	NP_001139.3:p.(Cys1616Arg)	NC_000004.11:g.114274620T>C	(Likely) benign	1 lab	767e316152
7:6035187 PMS2 C>G	7	6035187	6035187	C	G	PMS2	c.881G>C	NM_000535.5	NP_000526.1:p.(Arg294Pro)	NC_000007.13:g.6035187C>G	VUS	1 lab	76807ba9f1
2:48027651 MSH6 A>G	2	48027651	48027651	A	G	MSH6	c.2529A>G	NM_000179.3	NP_000170.1:p.(Ile843Met)	NC_000002.11:g.48027651A>G	VUS	1 lab	76836a7506
3:9979660 CRELD1 A>G	3	9979660	9979660	A	G	CRELD1	c.369-39A>G	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9979660A>G	(Likely) benign	1 lab	76865f7deb
2:48026015 MSH6 G>A	2	48026015	48026015	G	A	MSH6	c.893G>A	NM_000179.2	NP_000170.1:p.(Arg298Gln)	NC_000002.11:g.48026015G>A	(Likely) benign	1 lab	7687bdc19a
14:21863510 CHD8 C>A	14	21863510	21863510	C	A	CHD8	c.5129G>T	NM_001170629.2	NP_001164100.1:p.(Gly1710Val)	NC_000014.8:g.21863510C>A	(Likely) pathogenic	1 lab	768d848bfc
2:227974003 COL4A4 C>G	2	227974003	227974003	C	G	COL4A4	c.595-1G>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227974003C>G	(Likely) pathogenic	1 lab	34fa107fda
11:31823108 PAX6 C>G	11	31823108	31823108	C	G	PAX6	c.357+1G>C	NM_000280.6	NP_000271.1:p.?	NC_000011.9:g.31823108C>G	(Likely) pathogenic	1 lab	7694d140a8
18:34174789 FHOD3 G>A	18	34174789	34174789	G	A	FHOD3	c.646G>A	NM_025135.5	NP_079411.2:p.(Val216Ile)	NC_000018.9:g.34174789G>A	VUS	1 lab	02e51c0e37
2:98340839 ZAP70 G>T	2	98340839	98340839	G	T	ZAP70	c.340G>T	NM_001079.3	NP_001070.2:p.(Val114Phe)	NC_000002.11:g.98340839G>T	VUS	1 lab	769adf216f
17:17701106 RAI1 A>G	17	17701106	17701106	A	G	RAI1	c.4844A>G	NM_030665.4	NP_109590.3:p.(Asn1615Ser)	NC_000017.10:g.17701106A>G	VUS	1 lab	02e6e048b7
6:79655832 PHIP T>C	6	79655832	79655832	T	C	PHIP	c.4516A>G	NM_017934.7	NP_060404.4:p.(Thr1506Ala)	NC_000006.11:g.79655832T>C	(Likely) benign	1 lab	02e739ba98
2:228147195 COL4A3 G>C	2	228147195	228147195	G	C	COL4A3	c.2603G>C	NM_000091.4	NP_000082.2:p.(Gly868Ala)	NC_000002.11:g.228147195G>C	VUS	1 lab	769d37ea28
11:66616775 PC C>T	11	66616775	66616775	C	T	PC	c.3214G>A	NM_001040716.1	NP_001035806.1:p.(Gly1072Ser)	NC_000011.9:g.66616775C>T	VUS	1 lab	76a0864967
6:76566845 MYO6 G>A	6	76566845	76566845	G	A	MYO6	c.1255G>A	NM_004999.4	NP_004990.3:p.(Ala419Thr)	NC_000006.11:g.76566845G>A	VUS	1 lab	76a23f5613
7:151254175 PRKAG2 T>C	7	151254175	151254175	T	C	PRKAG2	c.*112A>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151254175T>C	(Likely) benign	1 lab	76a359718e
3:37089068 MLH1 G>A	3	37089068	37089068	G	A	MLH1	c.1790G>A	NM_000249.3	NP_000240.1:p.(Trp597Ter)	NC_000003.11:g.37089068G>A	(Likely) pathogenic	1 lab	76a40ae3c5
12:15654873 PTPRO CAGTG>C	12	15654873	15654879	CAGTG	C	PTPRO	c.984_987del	NM_030667.3	NP_109592.1:p.(Ser328ArgfsTer17)	NC_000012.11:g.15654876_15654879del	(Likely) pathogenic	1 lab	0b9202cf07
7:155599176 SHH C>T	7	155599176	155599176	C	T	SHH	c.376G>A	NM_000193.4	NP_000184.1:p.(Glu126Lys)	NC_000007.13:g.155599176C>T	(Likely) pathogenic	1 lab	76a6523864
17:8021407 ALOXE3 G>C	17	8021407	8021407	G	C	ALOXE3	c.-99C>G	NM_021628.2	NP_067641.2:p.?	NC_000017.10:g.8021407G>C	(Likely) benign	1 lab	78acc8afde
5:112175703 APC C>CA	5	112175703	112175704	C	CA	APC	c.4413dup	NM_000038.6	NP_000029.2:p.(Val1472SerfsTer15)	NC_000005.9:g.112175704dup	(Likely) pathogenic	1 lab	76a759f86f
8:41585577 ANK1 G>A	8	41585577	41585577	G	A	ANK1	c.229-53C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41585577G>A	(Likely) benign	1 lab	0bab1103df
14:23887546 MYH7 C>T	14	23887546	23887546	C	T	MYH7	c.4042G>A	NM_000257.4	NP_000248.2:p.(Glu1348Lys)	NC_000014.8:g.23887546C>T	VUS	1 lab	76a9ad0c46
1:120539711 NOTCH2 G>T	1	120539711	120539711	G	T	NOTCH2	c.660C>A	NM_024408.4	NP_077719.2:p.(Ser220Arg)	NC_000001.10:g.120539711G>T	(Likely) benign	1 lab	76aa0d5fdf
1:173883722 SERPINC1 G>C	1	173883722	173883722	G	C	SERPINC1	c.377C>G	NM_000488.3	NP_000479.1:p.(Ala126Gly)	NC_000001.10:g.173883722G>C	(Likely) pathogenic	1 lab	76aa9ef73a
5:142421415 ARHGAP26 T>G	5	142421415	142421415	T	G	ARHGAP26	c.1245T>G	NM_015071.6	NP_055886.1:p.(Gly415=)	NC_000005.9:g.142421415T>G	(Likely) benign	1 lab	02ea71b82e
5:1065457 SLC12A7 A>G	5	1065457	1065457	A	G	SLC12A7	c.2378T>C	NM_006598.2	NP_006589.2:p.(Met793Thr)	NC_000005.9:g.1065457A>G	(Likely) benign	1 lab	76ac5b1607
5:64181325 CWC27 C>T	5	64181325	64181325	C	T	CWC27	c.994C>T	NM_005869.4	NP_005860.2:p.(Gln332Ter)	NC_000005.9:g.64181325C>T	(Likely) pathogenic	1 lab	76ad1a4800
1:204518437 MDM4 C>T	1	204518437	204518437	C	T	MDM4	c.1100C>T	NM_002393.5	NP_002384.2:p.(Ser367Leu)	NC_000001.10:g.204518437C>T	VUS	1 lab	76ad76cab5
9:136522274 DBH C>T	9	136522274	136522274	C	T	DBH	c.1645C>T	NM_000787.4	NP_000778.3:p.(Arg549Cys)	NC_000009.11:g.136522274C>T	(Likely) benign	1 lab	76afb4b948
3:37038177 MLH1 C>T	3	37038177	37038177	C	T	MLH1	c.184C>T	NM_000249.4	NP_000240.1:p.(Gln62Ter)	NC_000003.11:g.37038177C>T	(Likely) pathogenic	1 lab	76b076306e
19:856019 ELANE G>A	19	856019	856019	G	A	ELANE	c.659G>A	NM_001972.4	NP_001963.1:p.(Arg220Gln)	NC_000019.9:g.856019G>A	(Likely) pathogenic	1 lab	76b38a6373
2:47709984 MSH2 G>T	2	47709984	47709984	G	T	MSH2	c.2701G>T	NM_000251.2	NP_000242.1:p.(Glu901Ter)	NC_000002.11:g.47709984G>T	(Likely) pathogenic	1 lab	76b4967812
X:12739015 FRMPD4 C>T	X	12739015	12739015	C	T	FRMPD4	c.4327C>T	NM_001368397.1	NP_001355326.1:p.(Arg1443Ter)	NC_000023.10:g.12739015C>T	VUS	1 lab	76b64a7c3e
5:98239504 CHD1 A>G	5	98239504	98239504	A	G	CHD1	c.364T>C	NM_001270.2	NP_001261.2:p.(Ser122Pro)	NC_000005.9:g.98239504A>G	VUS	1 lab	76b80cd923
21:41741116 DSCAM C>T	21	41741116	41741116	C	T	DSCAM	c.565G>A	NM_001389.3	NP_001380.2:p.(Glu189Lys)	NC_000021.8:g.41741116C>T	VUS	1 lab	76b95d7cda
9:139399434 NOTCH1 G>C	9	139399434	139399434	G	C	NOTCH1	c.4709C>G	NM_017617.3	NP_060087.3:p.(Ala1570Gly)	NC_000009.11:g.139399434G>C	VUS	1 lab	76ba2258f8
21:45707379 AIRE GC>G	21	45707379	45707384	GC	G	AIRE	c.464-16del	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45707384del	(Likely) benign	1 lab	0b9753d997
2:182468562 CERKL A>C	2	182468562	182468562	A	C	CERKL	c.481+2T>G	NM_001030311.2	NP_001025482.1:p.?	NC_000002.11:g.182468562A>C	(Likely) pathogenic	1 lab	76c17c48bd
3:152150505 MBNL1 G>C	3	152150505	152150505	G	C	MBNL1				NC_000003.11:g.152150505G>C	VUS	1 lab	76c54c9cdb
14:105169702 INF2 A>G	14	105169702	105169702	A	G	INF2	c.578A>G	NM_022489.3	NP_071934.3:p.(Tyr193Cys)	NC_000014.8:g.105169702A>G	(Likely) pathogenic	1 lab	76c8a78571
12:6128359 VWF CCTT>C	12	6128359	6128372	CCTT	C	VWF	c.4222_4224del	NM_000552.3	NP_000543.2:p.(Lys1408del)	NC_000012.11:g.6128370_6128372del	VUS	1 lab	76ca63cb5f
10:89712017 PTEN G>C	10	89712017	89712017	G	C	PTEN	c.634+1G>C	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89712017G>C	(Likely) pathogenic	1 lab	76caf025db
8:16026065 MSR1 T>G	8	16026065	16026065	T	G	MSR1	c.532A>C	NM_138715.3	NP_619729.1:p.(Lys178Gln)	NC_000008.10:g.16026065T>G	VUS	1 lab	02f498626d
19:18895118 COMP G>C	19	18895118	18895118	G	C	COMP	c.1970C>G	NM_000095.3	NP_000086.2:p.(Thr657Arg)	NC_000019.9:g.18895118G>C	VUS	1 lab	02f59d0190
1:160261786 COPA G>A	1	160261786	160261786	G	A	COPA	c.3174+16C>T	NM_001098398.2	NP_001091868.1:p.?	NC_000001.10:g.160261786G>A	(Likely) benign	1 lab	0b97e27e6b
16:30100127 TBX6 G>A	16	30100127	30100127	G	A	TBX6	c.655C>T	NM_004608.3	NP_004599.2:p.(Arg219Cys)	NC_000016.9:g.30100127G>A	VUS	1 lab	76d54cbde8
1:2237692 SKI A>G	1	2237692	2237692	A	G	SKI	c.1998+3A>G	NM_003036.3	NP_003027.1:p.?	NC_000001.10:g.2237692A>G	(Likely) benign	1 lab	76d6994426
2:45170049 SIX3 G>C	2	45170049	45170049	G	C	SIX3	c.806G>C	NM_005413.3	NP_005404.1:p.(Arg269Thr)	NC_000002.11:g.45170049G>C	(Likely) pathogenic	1 lab	76dd0cc85c
2:167277707 SCN7A C>T	2	167277707	167277707	C	T	SCN7A	c.3128G>A	NM_002976.3	NP_002967.2:p.(Arg1043Lys)	NC_000002.11:g.167277707C>T	(Likely) benign	1 lab	76dfce63f8
9:131454280 SET G>A	9	131454280	131454280	G	A	SET	c.274+1G>A	NM_003011.4	NP_003002.2:p.?	NC_000009.11:g.131454280G>A	(Likely) pathogenic	1 lab	76e2786feb
7:158536388 ESYT2 A>C	7	158536388	158536388	A	C	ESYT2	c.1726-19T>G	NM_020728.2	NP_065779.1:p.?	NC_000007.13:g.158536388A>C	(Likely) benign	1 lab	76e2f1f946
14:29237087 FOXG1 G>C	14	29237087	29237087	G	C	FOXG1	c.602G>C	NM_005249.4	NP_005240.3:p.(Arg201Pro)	NC_000014.8:g.29237087G>C	(Likely) pathogenic	1 lab	76e4abd6a3
20:42744921 JPH2 G>T	20	42744921	42744921	G	T	JPH2	c.1394C>A	NM_020433.5	NP_065166.2:p.(Pro465Gln)	NC_000020.10:g.42744921G>T	(Likely) benign	1 lab	76e4af1987
7:94039805 COL1A2 G>T	7	94039805	94039805	G	T	COL1A2	c.1163G>T	NM_000089.3	NP_000080.2:p.(Gly388Val)	NC_000007.13:g.94039805G>T	(Likely) pathogenic	1 lab	76e6ca296a
X:153448022 OPN1MW C>T	X	153448022	153448022	C	T	OPN1MW				NC_000023.10:g.153448022C>T	(Likely) benign	1 lab	76e94d3de0
16:79628468 MAF G>T	16	79628468	79628468	G	T	MAF	c.1119-18C>A	NM_005360.5	NP_005351.2:p.?	NC_000016.9:g.79628468G>T	(Likely) benign	1 lab	02f69ac144
1:108697681 SLC25A24 G>C	1	108697681	108697681	G	C	SLC25A24	c.746C>G	NM_013386.4	NP_037518.3:p.(Ser249Trp)	NC_000001.10:g.108697681G>C	VUS	1 lab	76edbbb858
5:112174312 APC AAT>A	5	112174312	112174315	AAT	A	APC	c.3023_3024del	NM_000038.6	NP_000029.2:p.(Ile1008ThrfsTer2)	NC_000005.9:g.112174314_112174315del	(Likely) pathogenic	1 lab	76f357f935
3:127335845 MCM2 G>T	3	127335845	127335845	G	T	MCM2	c.1657G>T	NM_004526.4	NP_004517.2:p.(Ala553Ser)	NC_000003.11:g.127335845G>T	VUS	1 lab	76f4c5b3ea
3:9490108 SETD5 A>T	3	9490108	9490108	A	T	SETD5				NC_000003.11:g.9490108A>T	(Likely) pathogenic	1 lab	76f6546144
17:29563040 NF1 G>T	17	29563040	29563040	G	T	NF1	c.3974+1G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29563040G>T	(Likely) pathogenic	1 lab	76f7143aa8
3:38770224 SCN10A G>T	3	38770224	38770224	G	T	SCN10A	c.2449C>A	NM_006514.3	NP_006505.3:p.(Arg817=)	NC_000003.11:g.38770224G>T	(Likely) benign	1 lab	76f71dc635
11:119149024 CBL C>G	11	119149024	119149024	C	G	CBL	c.1227+17C>G	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119149024C>G	(Likely) benign	1 lab	7728a7b6aa
6:121768382 GJA1 T>C	6	121768382	121768382	T	C	GJA1	c.389T>C	NM_000165.4	NP_000156.1:p.(Ile130Thr)	NC_000006.11:g.121768382T>C	(Likely) pathogenic	1 lab	76f75b386d
10:126107465 OAT G>A	10	126107465	126107465	G	A	OAT	c.-53C>T	NM_000274.3	NP_000265.1:p.?	NC_000010.10:g.126107465G>A	(Likely) benign	1 lab	76faf271c3
1:152277554 FLG G>A	1	152277554	152277554	G	A	FLG	c.9808C>T	NM_002016.1	NP_002007.1:p.(Arg3270Cys)	NC_000001.10:g.152277554G>A	(Likely) benign	1 lab	76fb965c35
17:4841334 SLC25A11 T>G	17	4841334	4841334	T	G	SLC25A11	c.773A>C	NM_003562.5	NP_003553.2:p.(Glu258Ala)	NC_000017.10:g.4841334T>G	VUS	1 lab	7700f20f98
9:99060720 HSD17B3 A>G	9	99060720	99060720	A	G	HSD17B3				NC_000009.11:g.99060720A>G	VUS	1 lab	7701b48089
19:3590152 GIPC3 G>A	19	3590152	3590152	G	A	GIPC3	c.903G>A	NM_133261.3	NP_573568.1:p.(Trp301Ter)	NC_000019.9:g.3590152G>A	(Likely) pathogenic	1 lab	770708ee81
8:61763846 CHD7 A>G	8	61763846	61763846	A	G	CHD7	c.5633A>G	NM_017780.3	NP_060250.2:p.(Asp1878Gly)	NC_000008.10:g.61763846A>G	(Likely) benign	1 lab	77098f3ddf
2:112779833 MERTK A>C	2	112779833	112779833	A	C	MERTK	c.2350-2A>C	NM_006343.3	NP_006334.2:p.?	NC_000002.11:g.112779833A>C	(Likely) pathogenic	1 lab	7709baa465
2:170044738 LRP2 C>T	2	170044738	170044738	C	T	LRP2	c.9070G>A	NM_004525.2	NP_004516.2:p.(Glu3024Lys)	NC_000002.11:g.170044738C>T	VUS	1 lab	770bc28477
7:151478363 PRKAG2 G>A	7	151478363	151478363	G	A	PRKAG2	c.341C>T	NM_016203.3	NP_057287.2:p.(Pro114Leu)	NC_000007.13:g.151478363G>A	VUS	1 lab	770bc2a720
6:42689553 PRPH2 A>T	6	42689553	42689553	A	T	PRPH2	c.520T>A	NM_000322.4	NP_000313.2:p.(Trp174Arg)	NC_000006.11:g.42689553A>T	(Likely) pathogenic	1 lab	770bd999d1
X:70618477 TAF1 C>T	X	70618477	70618477	C	T	TAF1	c.3736C>T	NM_001286074.1	NP_001273003.1:p.(Arg1246Trp)	NC_000023.10:g.70618477C>T	VUS	1 lab	770d393e60
14:23898491 MYH7 G>A	14	23898491	23898491	G	A	MYH7	c.1204C>T	NM_000257.3	NP_000248.2:p.(Pro402Ser)	NC_000014.8:g.23898491G>A	(Likely) pathogenic	1 lab	770decea02
17:33428255 RAD51D G>A	17	33428255	33428255	G	A	RAD51D	c.868C>T	NM_002878.3	NP_002869.3:p.(Arg290Trp)	NC_000017.10:g.33428255G>A	(Likely) benign	1 lab	7710c58020
16:56368649 GNAO1 A>G	16	56368649	56368649	A	G	GNAO1	c.473A>G	NM_020988.3	NP_066268.1:p.(Asp158Gly)	NC_000016.9:g.56368649A>G	VUS	1 lab	7712ed97e6
10:88683419 BMPR1A A>G	10	88683419	88683419	A	G	BMPR1A	c.1542A>G	NM_004329.3	NP_004320.2:p.(Ala514=)	NC_000010.10:g.88683419A>G	(Likely) benign	1 lab	771710c319
10:18439926 CACNB2 T>C	10	18439926	18439926	T	C	CACNB2	c.213+22T>C	NM_201596.2	NP_963890.2:p.?	NC_000010.10:g.18439926T>C	(Likely) benign	1 lab	771727c057
14:51094855 ATL1 G>A	14	51094855	51094855	G	A	ATL1	c.1226G>A	NM_015915.5	NP_056999.2:p.(Gly409Asp)	NC_000014.8:g.51094855G>A	VUS	1 lab	7717df552e
12:48398020 COL2A1 G>A	12	48398020	48398020	G	A	COL2A1	c.85C>T	NM_001844.5	NP_001835.3:p.(Gln29Ter)	NC_000012.11:g.48398020G>A	(Likely) pathogenic	1 lab	7718957520
6:7571629 DSP G>A	6	7571629	7571629	G	A	DSP	c.1715G>A	NM_004415.4	NP_004406.2:p.(Arg572Gln)	NC_000006.11:g.7571629G>A	VUS	1 lab	02fde5b243
3:122060289 CSTA C>T	3	122060289	122060289	C	T	CSTA	c.172C>T	NM_005213.3	NP_005204.1:p.(Arg58Ter)	NC_000003.11:g.122060289C>T	(Likely) pathogenic	1 lab	771b123867
17:17131276 FLCN C>G	17	17131276	17131276	C	G	FLCN	c.176G>C	NM_144997.5	NP_659434.2:p.(Arg59Pro)	NC_000017.10:g.17131276C>G	VUS	1 lab	771c4aba36
3:10084249 FANCD2 C>T	3	10084249	10084249	C	T	FANCD2				NC_000003.11:g.10084249C>T	(Likely) pathogenic	1 lab	771f47ec17
7:73458212 ELN T>G	7	73458212	73458212	T	G	ELN	c.431T>G	NM_000501.4	NP_000492.2:p.(Val144Gly)	NC_000007.13:g.73458212T>G	VUS	1 lab	771fdd29db
14:103434808 CDC42BPB C>T	14	103434808	103434808	C	T	CDC42BPB	c.2240+1G>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103434808C>T	(Likely) pathogenic	1 lab	7722a70889
1:197396856 CRB1 A>T	1	197396856	197396856	A	T	CRB1	c.2401A>T	NM_201253.2	NP_957705.1:p.(Lys801Ter)	NC_000001.10:g.197396856A>T	(Likely) pathogenic	1 lab	772458b546
2:215865575 ABCA12 T>C	2	215865575	215865575	T	C	ABCA12	c.3033A>G	NM_173076.2	NP_775099.2:p.(Pro1011=)	NC_000002.11:g.215865575T>C	(Likely) benign	1 lab	7729b5f4a2
12:111352032 MYL2 T>G	12	111352032	111352032	T	G	MYL2	c.232A>C	NM_000432.3	NP_000423.2:p.(Asn78His)	NC_000012.11:g.111352032T>G	(Likely) pathogenic	1 lab	7729ed54ea
11:47365034 MYBPC3 A>GAC	11	47365034	47365034	A	GAC	MYBPC3	c.1223+9delinsGTC	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365034delinsGAC	(Likely) benign	1 lab	772d4a0721
1:152283605 FLG C>A	1	152283605	152283605	C	A	FLG	c.3757G>T	NM_002016.2	NP_002007.1:p.(Gly1253Ter)	NC_000001.10:g.152283605C>A	(Likely) pathogenic	1 lab	772f54f652
15:77329474 PSTPIP1 G>A	15	77329474	77329474	G	A	PSTPIP1	c.1208G>A	NM_003978.5	NP_003969.2:p.(Gly403Glu)	NC_000015.9:g.77329474G>A	(Likely) benign	1 lab	0305ae4931
1:3319462 PRDM16 G>A	1	3319462	3319462	G	A	PRDM16	c.784G>A	NM_022114.3	NP_071397.3:p.(Glu262Lys)	NC_000001.10:g.3319462G>A	(Likely) benign	1 lab	7732ef72bf
12:6167144 VWF C>T	12	6167144	6167144	C	T	VWF	c.1600G>A	NM_000552.3	NP_000543.2:p.(Asp534Asn)	NC_000012.11:g.6167144C>T	VUS	1 lab	7738468fc3
7:128480893 FLNC T>C	7	128480893	128480893	T	C	FLNC	c.1682T>C	NM_001458.4	NP_001449.3:p.(Phe561Ser)	NC_000007.13:g.128480893T>C	VUS	1 lab	773b080e32
7:87046836 ABCB4 G>A	7	87046836	87046836	G	A	ABCB4	c.2479-5C>T	NM_018849.3	NP_061337.1:p.?	NC_000007.13:g.87046836G>A	(Likely) benign	1 lab	0b9e685acb
5:132269950 AFF4 C>A	5	132269950	132269950	C	A	AFF4	c.807G>T	NM_014423.3	NP_055238.1:p.(Lys269Asn)	NC_000005.9:g.132269950C>A	VUS	1 lab	773c5db8cc
3:120371438 HGD C>A	3	120371438	120371438	C	A	HGD	c.342+1G>T	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120371438C>A	(Likely) pathogenic	1 lab	773c95a491
10:73462405 CDH23 T>C	10	73462405	73462405	T	C	CDH23	c.2687T>C	NM_022124.6	NP_071407.4:p.(Val896Ala)	NC_000010.10:g.73462405T>C	VUS	1 lab	03069adff8
11:68707053 IGHMBP2 C>T	11	68707053	68707053	C	T	IGHMBP2	c.2836C>T	NM_002180.3	NP_002171.2:p.(Arg946Trp)	NC_000011.9:g.68707053C>T	VUS	1 lab	773d8ba319
9:129377730 LMX1B C>T	9	129377730	129377730	C	T	LMX1B	c.208C>T	NM_002316.3	NP_002307.2:p.(Arg70Ter)	NC_000009.11:g.129377730C>T	(Likely) pathogenic	1 lab	773f8598e6
6:99374801 FBXL4 G>A	6	99374801	99374801	G	A	FBXL4				NC_000006.11:g.99374801G>A	(Likely) pathogenic	1 lab	77426491c3
7:128645152 TNPO3 AAACAGCG>GAACAGAGA	7	128645152	128645159	AAACAGCG	GAACAGAGA	TNPO3	c.607_614delinsTCTCTGTTC	NM_012470.3	NP_036602.1:p.(Arg203SerfsTer8)	NC_000007.13:g.128645152_128645159delinsGAACAGAGA	VUS	1 lab	7743f88687
8:20073985 ATP6V1B2 C>G	8	20073985	20073985	C	G	ATP6V1B2	c.1140C>G	NM_001693.4	NP_001684.2:p.(Asp380Glu)	NC_000008.10:g.20073985C>G	(Likely) benign	1 lab	7746f54abc
11:64578113 MEN1 T>G	11	64578113	64578113	T	G	MEN1	c.-35A>C	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64578113T>G	(Likely) benign	1 lab	774d75ce5c
2:223161776 PAX3 C>A	2	223161776	223161776	C	A	PAX3	c.242G>T	NM_181459.3	NP_852124.1:p.(Gly81Val)	NC_000002.11:g.223161776C>A	(Likely) pathogenic	1 lab	774f9ce396
10:22055189 DNAJC1 C>A	10	22055189	22055189	C	A	DNAJC1	c.1147+1G>T	NM_022365.3	NP_071760.2:p.?	NC_000010.10:g.22055189C>A	VUS	1 lab	774fc6e80d
15:89843582 FANCI C>T	15	89843582	89843582	C	T	FANCI	c.2855C>T	NM_001113378.2	NP_001106849.1:p.(Thr952Ile)	NC_000015.9:g.89843582C>T	VUS	1 lab	030be2aa25
2:240055974 HDAC4 C>A	2	240055974	240055974	C	A	HDAC4				NC_000002.11:g.240055974C>A	VUS	1 lab	77513fd5db
X:69247824 EDA G>A	X	69247824	69247824	G	A	EDA	c.644G>A	NM_001399.5	NP_001390.1:p.(Gly215Glu)	NC_000023.10:g.69247824G>A	(Likely) pathogenic	1 lab	030dfafb3c
17:7917279 GUCY2D T>A	17	7917279	7917279	T	A	GUCY2D	c.2345T>A	NM_000180.3	NP_000171.1:p.(Leu782His)	NC_000017.10:g.7917279T>A	(Likely) benign	1 lab	77599d7ee3
8:11617505 GATA4 C>G	8	11617505	11617505	C	G	GATA4	c.*1521C>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11617505C>G	(Likely) benign	1 lab	77611ce801
12:48398223 COL2A1 G>A	12	48398223	48398223	G	A	COL2A1	c.-119C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48398223G>A	(Likely) benign	1 lab	776183c443
11:108196837 ATM G>A	11	108196837	108196837	G	A	ATM	c.6860G>A	NM_000051.3	NP_000042.3:p.(Gly2287Glu)	NC_000011.9:g.108196837G>A	(Likely) benign	1 lab	7764644e6e
20:36322551 CTNNBL1 C>T	20	36322551	36322551	C	T	CTNNBL1	c.27C>T	NM_030877.5	NP_110517.2:p.(Tyr9=)	NC_000020.10:g.36322551C>T	(Likely) benign	1 lab	0ba1ea8d86
3:10188324 VHL C>G	3	10188324	10188324	C	G	VHL	c.463+4C>G	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10188324C>G	VUS	1 lab	7e0ae22ff6
3:38889082 SCN11A C>G	3	38889082	38889082	C	G	SCN11A	c.4479G>C	NM_014139.3	NP_054858.2:p.(Ser1493=)	NC_000003.11:g.38889082C>G	(Likely) benign	1 lab	776a601885
2:47710260 MSH2 A>G	2	47710260	47710260	A	G	MSH2	c.*172A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47710260A>G	(Likely) benign	1 lab	776b350769
2:5833212 SOX11 C>A	2	5833212	5833212	C	A	SOX11	c.359C>A	NM_003108.3	NP_003099.1:p.(Pro120His)	NC_000002.11:g.5833212C>A	(Likely) pathogenic	1 lab	776d342971
13:32913240 BRCA2 T>C	13	32913240	32913240	T	C	BRCA2	c.4748T>C	NM_000059.3	NP_000050.2:p.(Ile1583Thr)	NC_000013.10:g.32913240T>C	(Likely) benign	1 lab	776d80beb7
2:225368542 CUL3 G>A	2	225368542	225368542	G	A	CUL3	c.1207-3C>T	NM_003590.4	NP_003581.1:p.?	NC_000002.11:g.225368542G>A	(Likely) pathogenic	1 lab	776f7287d1
1:241675388 FH G>C	1	241675388	241675388	G	C	FH	c.434C>G	NM_000143.3	NP_000134.2:p.(Ser145Ter)	NC_000001.10:g.241675388G>C	(Likely) pathogenic	1 lab	776fe1fa1e
2:152467079 NEB T>G	2	152467079	152467079	T	G	NEB	c.11969A>C	NM_001164508.2	NP_001157980.2:p.(Asp3990Ala)	NC_000002.11:g.152467079T>G	VUS	1 lab	777032196f
15:90173431 KIF7 G>A	15	90173431	90173431	G	A	KIF7	c.3318+87C>T	NM_198525.3	NP_940927.2:p.?	NC_000015.9:g.90173431G>A	(Likely) benign	1 lab	0ba54b4ade
11:26677947 ANO3 C>T	11	26677947	26677947	C	T	ANO3	c.2682C>T	NM_031418.3	NP_113606.2:p.(Pro894=)	NC_000011.9:g.26677947C>T	(Likely) benign	1 lab	77752e167b
3:87311356 POU1F1 G>C	3	87311356	87311356	G	C	POU1F1	c.469C>G	NM_000306.4	NP_000297.1:p.(Leu157Val)	NC_000003.11:g.87311356G>C	VUS	1 lab	777b05818b
17:41275977 BRCA1 T>C	17	41275977	41275977	T	C	BRCA1	c.80+57A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41275977T>C	(Likely) benign	1 lab	777d72e6e2
2:179517208 TTN T>G	2	179517208	179517208	T	G	TTN	c.39104A>C	NM_001267550.2	NP_001254479.2:p.(Lys13035Thr)	NC_000002.11:g.179517208T>G	(Likely) benign	1 lab	7780d9f6ba
1:120510153 NOTCH2 A>G	1	120510153	120510153	A	G	NOTCH2	c.1356T>C	NM_024408.3	NP_077719.2:p.(Arg452=)	NC_000001.10:g.120510153A>G	(Likely) benign	1 lab	7782cafee6
X:122532556 GRIA3 C>T	X	122532556	122532556	C	T	GRIA3	c.982C>T	NM_007325.5	NP_015564.5:p.(Arg328Ter)	NC_000023.10:g.122532556C>T	(Likely) pathogenic	1 lab	7789a92200
8:100866392 VPS13B C>T	8	100866392	100866392	C	T	VPS13B	c.10850C>T	NM_017890.5	NP_060360.3:p.(Ser3617Leu)	NC_000008.10:g.100866392C>T	VUS	1 lab	031330287c
19:12984766 MAST1 G>C	19	12984766	12984766	G	C	MAST1	c.3795G>C	NM_014975.3	NP_055790.1:p.(Gln1265His)	NC_000019.9:g.12984766G>C	VUS	1 lab	03151ee2f7
10:89653851 PTEN TTGA>T	10	89653851	89653859	TTGA	T	PTEN	c.155_157del	NM_000314.8	NP_000305.3:p.(Asp52del)	NC_000010.10:g.89653857_89653859del	(Likely) pathogenic	1 lab	778c1642f6
7:128488774 FLNC G>T	7	128488774	128488774	G	T	FLNC	c.4737+3G>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128488774G>T	VUS	1 lab	77904a18da
16:2816185 SRRM2 C>T	16	2816185	2816185	C	T	SRRM2	c.5656C>T	NM_016333.4	NP_057417.3:p.(Arg1886Cys)	NC_000016.9:g.2816185C>T	VUS	1 lab	031e01e51c
7:87533607 DBF4 C>T	7	87533607	87533607	C	T	DBF4	c.925C>T	NM_006716.4	NP_006707.1:p.(His309Tyr)	NC_000007.13:g.87533607C>T	VUS	1 lab	031e330073
3:189584563 TP63 C>T	3	189584563	189584563	C	T	TP63				NC_000003.11:g.189584563C>T	(Likely) benign	1 lab	77927a271f
20:62044908 KCNQ2 C>T	20	62044908	62044908	C	T	KCNQ2	c.1658G>A	NM_172107.4	NP_742105.1:p.(Arg553Gln)	NC_000020.10:g.62044908C>T	(Likely) pathogenic	1 lab	7798491908
7:154677453 MISSING T>C	7	154677453	154677453	T	C	MISSING				NC_000007.13:g.154677453T>C	(Likely) benign	1 lab	779a764744
11:2683246 KCNQ1 C>T	11	2683246	2683246	C	T	KCNQ1	c.1449C>T	NM_000218.2	NP_000209.2:p.(Asn483=)	NC_000011.9:g.2683246C>T	(Likely) benign	1 lab	779d88cb7a
22:29090071 CHEK2 A>G	22	29090071	29090071	A	G	CHEK2	c.1410T>C	NM_007194.4	NP_009125.1:p.(Asp470=)	NC_000022.10:g.29090071A>G	(Likely) benign	1 lab	779dc7d8f3
X:12906010 TLR7 G>T	X	12906010	12906010	G	T	TLR7	c.2383G>T	NM_016562.3	NP_057646.1:p.(Val795Phe)	NC_000023.10:g.12906010G>T	(Likely) pathogenic	1 lab	77a201c387
4:77676174 SHROOM3 C>T	4	77676174	77676174	C	T	SHROOM3	c.4538C>T	NM_020859.3	NP_065910.3:p.(Pro1513Leu)	NC_000004.11:g.77676174C>T	VUS	1 lab	77a494d523
1:22149967 HSPG2 C>T	1	22149967	22149967	C	T	HSPG2	c.13018G>A	NM_005529.6	NP_005520.4:p.(Val4340Met)	NC_000001.10:g.22149967C>T	(Likely) benign	1 lab	0bacde0262
13:32915243 BRCA2 C>T	13	32915243	32915243	C	T	BRCA2	c.6751C>T	NM_000059.3	NP_000050.2:p.(His2251Tyr)	NC_000013.10:g.32915243C>T	(Likely) benign	1 lab	77ab75829f
1:74819077 TNNI3K T>G	1	74819077	74819077	T	G	TNNI3K	c.1027+33T>G	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74819077T>G	(Likely) benign	1 lab	0499ec5aa0
5:172660486 NKX2-5 G>A	5	172660486	172660486	G	A	NKX2-5	c.335-274C>T	NM_004387.3	NP_004378.1:p.?	NC_000005.9:g.172660486G>A	(Likely) benign	1 lab	77bece9f80
17:29509642 NF1 G>T	17	29509642	29509642	G	T	NF1	c.847G>T	NM_000267.3	NP_000258.1:p.(Asp283Tyr)	NC_000017.10:g.29509642G>T	VUS	1 lab	031eabbad3
11:47459555 RAPSN G>A	11	47459555	47459555	G	A	RAPSN	c.1210C>T	NM_005055.4	NP_005046.2:p.(Arg404Cys)	NC_000011.9:g.47459555G>A	VUS	1 lab	77ae4092ff
19:38990336 RYR1 C>T	19	38990336	38990336	C	T	RYR1	c.7089C>T	NM_000540.2	NP_000531.2:p.(Cys2363=)	NC_000019.9:g.38990336C>T	(Likely) benign	1 lab	77ae8541ec
X:70444108 GJB1 C>A	X	70444108	70444108	C	A	GJB1	c.551C>A	NM_000166.5	NP_000157.1:p.(Pro184His)	NC_000023.10:g.70444108C>A	VUS	1 lab	77b4767622
1:45797969 MUTYH G>A	1	45797969	45797969	G	A	MUTYH	c.802C>T	NM_001128425.1	NP_001121897.1:p.(Gln268Ter)	NC_000001.10:g.45797969G>A	(Likely) pathogenic	1 lab	77b6fd7ca6
X:64141723 ZC4H2 G>A	X	64141723	64141723	G	A	ZC4H2				NC_000023.10:g.64141723G>A	(Likely) pathogenic	1 lab	77b79654dc
1:152278856 FLG T>G	1	152278856	152278856	T	G	FLG	c.8506A>C	NM_002016.1	NP_002007.1:p.(Ser2836Arg)	NC_000001.10:g.152278856T>G	(Likely) benign	1 lab	77b895e4e5
9:136509370 DBH G>T	9	136509370	136509370	G	T	DBH	c.952G>T	NM_000787.3	NP_000778.3:p.(Ala318Ser)	NC_000009.11:g.136509370G>T	(Likely) benign	1 lab	77ba303a8f
9:136291469 ADAMTS13 T>G	9	136291469	136291469	T	G	ADAMTS13	c.686+4T>G	NM_139027.6	NP_620596.2:p.?	NC_000009.11:g.136291469T>G	(Likely) benign	1 lab	77bb817d8d
17:42284860 UBTF CAGA>C	17	42284860	42284863	CAGA	C	UBTF	c.2128_2130del	NM_014233.4	NP_055048.1:p.(Ser710del)	NC_000017.10:g.42284861_42284863del	VUS	1 lab	0323fbd1b3
11:47355216 MYBPC3 T>C	11	47355216	47355216	T	C	MYBPC3	c.3082A>G	NM_000256.3	NP_000247.2:p.(Thr1028Ala)	NC_000011.9:g.47355216T>C	(Likely) pathogenic	1 lab	77bdf47d12
16:23391895 SCNN1B C>T	16	23391895	23391895	C	T	SCNN1B	c.1696C>T	NM_000336.3	NP_000327.2:p.(Arg566Ter)	NC_000016.9:g.23391895C>T	(Likely) pathogenic	1 lab	77be45654d
20:49510613 ADNP G>A	20	49510613	49510613	G	A	ADNP				NC_000020.10:g.49510613G>A	VUS	1 lab	7abff55a79
4:103450992 NFKB1 G>T	4	103450992	103450992	G	T	NFKB1	c.40-1G>T	NM_003998.4	NP_003989.2:p.?	NC_000004.11:g.103450992G>T	(Likely) pathogenic	1 lab	77c231953b
16:4848570 ROGDI C>T	16	4848570	4848570	C	T	ROGDI	c.531G>A	NM_024589.2	NP_078865.1:p.(Thr177=)	NC_000016.9:g.4848570C>T	VUS	1 lab	77c344634d
4:83372305 ENOPH1 G>A	4	83372305	83372305	G	A	ENOPH1	c.296G>A	NM_021204.4	NP_067027.1:p.(Trp99Ter)	NC_000004.11:g.83372305G>A	VUS	1 lab	77c5df0fee
1:94476949 ABCA4 A>C	1	94476949	94476949	A	C	ABCA4	c.5461-8T>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94476949A>C	VUS	1 lab	77c5fd7fce
10:121436219 BAG3 T>C	10	121436219	121436219	T	C	BAG3	c.1153T>C	NM_004281.3	NP_004272.2:p.(Ser385Pro)	NC_000010.10:g.121436219T>C	VUS	1 lab	0baf24cc4a
11:62393629 GANAB T>C	11	62393629	62393629	T	C	GANAB	c.2699A>G	NM_198335.4	NP_938149.2:p.(Asp900Gly)	NC_000011.9:g.62393629T>C	VUS	1 lab	03260f7fca
1:241667498 FH G>A	1	241667498	241667498	G	A	FH				NC_000001.10:g.241667498G>A	(Likely) pathogenic	1 lab	77cba7eec0
1:94471025 ABCA4 C>T	1	94471025	94471025	C	T	ABCA4	c.6119G>A	NM_000350.2	NP_000341.2:p.(Arg2040Gln)	NC_000001.10:g.94471025C>T	(Likely) pathogenic	1 lab	77cbdf4624
11:120996030 TECTA C>T	11	120996030	120996030	C	T	TECTA	c.1223C>T	NM_005422.4	NP_005413.2:p.(Ser408Phe)	NC_000011.9:g.120996030C>T	(Likely) pathogenic	1 lab	77cd092628
7:151329176 PRKAG2 T>C	7	151329176	151329176	T	C	PRKAG2	c.733A>G	NM_016203.4	NP_057287.2:p.(Lys245Glu)	NC_000007.13:g.151329176T>C	(Likely) benign	1 lab	77cd6d7eea
2:159517858 PKP4 G>A	2	159517858	159517858	G	A	PKP4	c.2107G>A	NM_003628.4	NP_003619.2:p.(Ala703Thr)	NC_000002.11:g.159517858G>A	VUS	1 lab	77ce67e312
17:54671688 NOG C>G	17	54671688	54671688	C	G	NOG	c.104C>G	NM_005450.4	NP_005441.1:p.(Pro35Arg)	NC_000017.10:g.54671688C>G	(Likely) pathogenic	1 lab	77ce73c93c
12:121881927 KDM2B T>A	12	121881927	121881927	T	A	KDM2B	c.2339A>T	NM_032590.4	NP_115979.3:p.(Glu780Val)	NC_000012.11:g.121881927T>A	VUS	1 lab	77d14fa473
9:124088812 GSN A>G	9	124088812	124088812	A	G	GSN	c.1592A>G	NM_000177.5	NP_000168.1:p.(Glu531Gly)	NC_000009.11:g.124088812A>G	VUS	1 lab	0326433f9a
3:38835463 SCN10A G>A	3	38835463	38835463	G	A	SCN10A	c.39C>T	NM_006514.4	NP_006505.4:p.(Phe13=)	NC_000003.11:g.38835463G>A	(Likely) benign	1 lab	77d3070829
2:44547909 SLC3A1 T>C	2	44547909	44547909	T	C	SLC3A1	c.*131T>C	NM_000341.3	NP_000332.2:p.?	NC_000002.11:g.44547909T>C	(Likely) benign	1 lab	77d48b9507
11:26660734 ANO3 G>T	11	26660734	26660734	G	T	ANO3	c.2087G>T	NM_031418.4	NP_113606.2:p.(Gly696Val)	NC_000011.9:g.26660734G>T	VUS	1 lab	77d4ba030f
22:37485652 TMPRSS6 C>T	22	37485652	37485652	C	T	TMPRSS6	c.829G>A	NM_153609.3	NP_705837.1:p.(Val277Met)	NC_000022.10:g.37485652C>T	VUS	1 lab	77d4e545d1
20:52779247 CYP24A1 C>T	20	52779247	52779247	C	T	CYP24A1	c.990+9G>A	NM_000782.4	NP_000773.2:p.?	NC_000020.10:g.52779247C>T	(Likely) benign	1 lab	77d5fc834c
20:13098242 SPTLC3 T>C	20	13098242	13098242	T	C	SPTLC3	c.1022T>C	NM_001349945.1	NP_001336874.1:p.(Ile341Thr)	NC_000020.10:g.13098242T>C	VUS	1 lab	77d6db6003
17:56774214 RAD51C G>T	17	56774214	56774214	G	T	RAD51C	c.565G>T	NM_058216.3	NP_478123.1:p.(Gly189Ter)	NC_000017.10:g.56774214G>T	(Likely) pathogenic	1 lab	77d9ab315d
4:155529674 FGG C>A	4	155529674	155529674	C	A	FGG				NC_000004.11:g.155529674C>A	VUS	1 lab	77daa28ac2
7:75684227 MDH2 T>C	7	75684227	75684227	T	C	MDH2	c.146T>C	NM_005918.3	NP_005909.2:p.(Leu49Ser)	NC_000007.13:g.75684227T>C	VUS	1 lab	77ddbadc6f
12:42863325 PRICKLE1 C>T	12	42863325	42863325	C	T	PRICKLE1				NC_000012.11:g.42863325C>T	(Likely) pathogenic	1 lab	77df7a1c33
3:38616914 SCN5A C>T	3	38616914	38616914	C	T	SCN5A	c.3540G>A	NM_198056.2	NP_932173.1:p.(Ala1180=)	NC_000003.11:g.38616914C>T	(Likely) benign	1 lab	77e029053e
5:145719480 POU4F3 C>T	5	145719480	145719480	C	T	POU4F3	c.490C>T	NM_002700.2	NP_002691.1:p.(Pro164Ser)	NC_000005.9:g.145719480C>T	VUS	1 lab	77e213ed52
12:49431359 KMT2D C>T	12	49431359	49431359	C	T	KMT2D	c.9780G>A	NM_003482.3	NP_003473.3:p.(Leu3260=)	NC_000012.11:g.49431359C>T	(Likely) benign	1 lab	0bb1a1d50c
4:114163336 ANK2 C>T	4	114163336	114163336	C	T	ANK2	c.862C>T	NM_001148.5	NP_001139.3:p.(Arg288Ter)	NC_000004.11:g.114163336C>T	VUS	1 lab	77e38b88fe
10:112540784 RBM20 TC>T	10	112540784	112540786	TC	T	RBM20	c.419del	NM_001134363.2	NP_001127835.2:p.(Pro140ArgfsTer3)	NC_000010.10:g.112540786del	VUS	1 lab	77e3f73791
17:58740623 PPM1D C>T	17	58740623	58740623	C	T	PPM1D				NC_000017.10:g.58740623C>T	(Likely) pathogenic	1 lab	77e4269986
X:49079435 CACNA1F G>A	X	49079435	49079435	G	A	CACNA1F	c.2071C>T	NM_005183.3	NP_005174.2:p.(Arg691Ter)	NC_000023.10:g.49079435G>A	(Likely) pathogenic	1 lab	77e644bbd2
2:179576812 TTN T>C	2	179576812	179576812	T	C	TTN	c.27745A>G	NM_001267550.2	NP_001254479.2:p.(Thr9249Ala)	NC_000002.11:g.179576812T>C	(Likely) benign	1 lab	77e69ae54b
11:108172536 ATM T>C	11	108172536	108172536	T	C	ATM	c.5319+20T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108172536T>C	(Likely) benign	1 lab	77f09ad262
12:133197647 P2RX2 T>C	12	133197647	133197647	T	C	P2RX2	c.835T>C	NM_170683.3	NP_733783.1:p.(Cys279Arg)	NC_000012.11:g.133197647T>C	VUS	1 lab	77f2b5e40e
10:55719491 PCDH15 C>T	10	55719491	55719491	C	T	PCDH15	c.3122+1G>A	NM_033056.4	NP_149045.3:p.?	NC_000010.10:g.55719491C>T	(Likely) pathogenic	1 lab	77f396f9e3
16:3304746 MEFV T>C	16	3304746	3304746	T	C	MEFV	c.322A>G	NM_000243.2	NP_000234.1:p.(Ser108Gly)	NC_000016.9:g.3304746T>C	VUS	1 lab	0bbcfb1b5f
17:41276045 BRCA1 C>T	17	41276045	41276045	C	T	BRCA1	c.69G>A	NM_007294.3	NP_009225.1:p.(Glu23=)	NC_000017.10:g.41276045C>T	(Likely) benign	1 lab	77f4d24bd0
16:4751013 ANKS3 C>T	16	4751013	4751013	C	T	ANKS3	c.1242G>A	NM_133450.4	NP_597707.1:p.(Glu414=)	NC_000016.9:g.4751013C>T	(Likely) benign	1 lab	0bbd092c92
4:151207094 LRBA C>T	4	151207094	151207094	C	T	LRBA	c.8143G>A	NM_006726.4	NP_006717.2:p.(Gly2715Ser)	NC_000004.11:g.151207094C>T	VUS	1 lab	77f780690c
17:56787282 RAD51C TCT>G	17	56787282	56787284	TCT	G	RAD51C	c.768_770delinsG	NM_058216.2	NP_478123.1:p.(Leu257SerfsTer18)	NC_000017.10:g.56787282_56787284delinsG	(Likely) pathogenic	1 lab	77f924fdb3
X:48768888 SLC35A2 G>A	X	48768888	48768888	G	A	SLC35A2				NC_000023.10:g.48768888G>A	VUS	1 lab	77ffe853eb
7:75933142 HSPB1 G>A	7	75933142	75933142	G	A	HSPB1	c.388G>A	NM_001540.4	NP_001531.1:p.(Glu130Lys)	NC_000007.13:g.75933142G>A	VUS	1 lab	780011e902
13:32930604 BRCA2 A>T	13	32930604	32930604	A	T	BRCA2	c.7475A>T	NM_000059.4	NP_000050.3:p.(Asp2492Val)	NC_000013.10:g.32930604A>T	VUS	1 lab	7806dfb7e9
16:23640973 PALB2 A>G	16	23640973	23640973	A	G	PALB2	c.2502T>C	NM_024675.4	NP_078951.2:p.(His834=)	NC_000016.9:g.23640973A>G	(Likely) benign	1 lab	7807115e3d
1:6653624 KLHL21 G>A	1	6653624	6653624	G	A	KLHL21	c.1595C>T	NM_014851.2	NP_055666.2:p.(Ala532Val)	NC_000001.10:g.6653624G>A	VUS	1 lab	7807afae6f
18:29178577 TTR C>T	18	29178577	29178577	C	T	TTR	c.383C>T	NM_000371.3	NP_000362.1:p.(Ala128Val)	NC_000018.9:g.29178577C>T	(Likely) benign	1 lab	7809cd8043
3:148802520 HLTF T>TA	3	148802520	148802524	T	TA	HLTF	c.176dup	NM_003071.3	NP_003062.2:p.(Leu59PhefsTer20)	NC_000003.11:g.148802524dup	VUS	1 lab	780a9f0524
19:7620272 PNPLA6 C>T	19	7620272	7620272	C	T	PNPLA6	c.2822+19C>T	NM_006702.4	NP_006693.3:p.?	NC_000019.9:g.7620272C>T	(Likely) benign	1 lab	78635dbdc3
5:112179824 APC AAG>A	5	112179824	112179830	AAG	A	APC	c.*6_*7del	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112179829_112179830del	(Likely) benign	1 lab	780b12b52a
19:47112126 CALM3 C>T	19	47112126	47112126	C	T	CALM3	c.309C>T	NM_005184.3	NP_005175.2:p.(Ala103=)	NC_000019.9:g.47112126C>T	(Likely) benign	1 lab	780e3ad9d2
2:228134637 COL4A3 G>A	2	228134637	228134637	G	A	COL4A3	c.1516G>A	NM_000091.4	NP_000082.2:p.(Ala506Thr)	NC_000002.11:g.228134637G>A	(Likely) benign	1 lab	780f4eaf80
6:152557936 SYNE1 G>A	6	152557936	152557936	G	A	SYNE1	c.20199+16C>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152557936G>A	(Likely) benign	1 lab	34fa325feb
2:32352088 SPAST G>A	2	32352088	32352088	G	A	SPAST				NC_000002.11:g.32352088G>A	VUS	1 lab	7b28306b8f
6:112499315 LAMA4 A>G	6	112499315	112499315	A	G	LAMA4	c.1189+8T>C	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112499315A>G	(Likely) benign	1 lab	78149d01d1
22:51159604 MISSING C>T	22	51159604	51159604	C	T	MISSING				NC_000022.10:g.51159604C>T	(Likely) pathogenic	1 lab	78157886c6
10:255840 ZMYND11 G>C	10	255840	255840	G	C	ZMYND11				NC_000010.10:g.255840G>C	(Likely) pathogenic	1 lab	7817f5f524
12:48379513 COL2A1 G>A	12	48379513	48379513	G	A	COL2A1	c.1678C>T	NM_001844.5	NP_001835.3:p.(Arg560Trp)	NC_000012.11:g.48379513G>A	VUS	1 lab	781ba7756c
20:31394060 DNMT3B CAG>C	20	31394060	31394062	CAG	C	DNMT3B	c.2348_2349del	NM_006892.3	NP_008823.1:p.(Gln783ArgfsTer21)	NC_000020.10:g.31394061_31394062del	(Likely) pathogenic	1 lab	781d8479b5
1:41285127 KCNQ4 T>C	1	41285127	41285127	T	C	KCNQ4	c.817T>C	NM_004700.4	NP_004691.2:p.(Ser273Pro)	NC_000001.10:g.41285127T>C	VUS	1 lab	78208cbee4
4:88967997 PKD2 A>G	4	88967997	88967997	A	G	PKD2	c.1523A>G	NM_000297.4	NP_000288.1:p.(Asn508Ser)	NC_000004.11:g.88967997A>G	VUS	1 lab	78223150bb
2:219525808 BCS1L G>A	2	219525808	219525808	G	A	BCS1L	c.98G>A	NM_004328.4	NP_004319.1:p.(Arg33Gln)	NC_000002.11:g.219525808G>A	VUS	1 lab	782304647a
3:55513528 WNT5A A>C	3	55513528	55513528	A	C	WNT5A	c.205T>G	NM_003392.4	NP_003383.2:p.(Cys69Gly)	NC_000003.11:g.55513528A>C	(Likely) pathogenic	1 lab	78264d7545
15:63358246 TPM1 G>T	15	63358246	63358246	G	T	TPM1	c.*148G>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63358246G>T	(Likely) benign	1 lab	7826fe6612
1:152282684 FLG G>A	1	152282684	152282684	G	A	FLG	c.4678C>T	NM_002016.1	NP_002007.1:p.(Arg1560Cys)	NC_000001.10:g.152282684G>A	(Likely) benign	1 lab	782773e206
12:116446190 MED13L CAG>C	12	116446190	116446196	CAG	C	MED13L	c.2012+14_2012+15del	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116446195_116446196del	(Likely) benign	1 lab	78277853b5
20:62324559 RTEL1 C>T	20	62324559	62324559	C	T	RTEL1	c.2246C>T	NM_001283010.1	NP_001269939.1:p.(Thr749Ile)	NC_000020.10:g.62324559C>T	(Likely) benign	1 lab	0bbf32840b
13:26112178 ATP8A2 A>G	13	26112178	26112178	A	G	ATP8A2				NC_000013.10:g.26112178A>G	VUS	1 lab	7bac947161
7:16298110 CRPPA A>C	7	16298110	16298110	A	C	CRPPA	c.1027-3T>G	NM_001101426.3	NP_001094896.1:p.?	NC_000007.13:g.16298110A>C	(Likely) pathogenic	1 lab	782f6974e5
X:38144934 RPGR CT>C	X	38144934	38144941	CT	C	RPGR	c.3317del	NM_001034853.2	NP_001030025.1:p.(Lys1106SerfsTer25)	NC_000023.10:g.38144941del	(Likely) pathogenic	1 lab	782f6cc512
7:6026682 PMS2 C>T	7	6026682	6026682	C	T	PMS2	c.1714G>A	NM_000535.5	NP_000526.1:p.(Ala572Thr)	NC_000007.13:g.6026682C>T	(Likely) benign	1 lab	7832e16898
9:73225665 TRPM3 C>T	9	73225665	73225665	C	T	TRPM3	c.2032G>A	NM_020952.6	NP_066003.3:p.(Ala678Thr)	NC_000009.11:g.73225665C>T	VUS	1 lab	7832f00b82
2:227892619 COL4A4 C>T	2	227892619	227892619	C	T	COL4A4	c.4080G>A	NM_000092.4	NP_000083.3:p.(Pro1360=)	NC_000002.11:g.227892619C>T	(Likely) benign	1 lab	7834065a05
X:153418460 MISSING C>A	X	153418460	153418460	C	A	MISSING				NC_000023.10:g.153418460C>A	(Likely) pathogenic	1 lab	783dcc66b1
17:78155442 CARD14 C>T	17	78155442	78155442	C	T	CARD14	c.205C>T	NM_024110.4	NP_077015.2:p.(Arg69Trp)	NC_000017.10:g.78155442C>T	VUS	1 lab	783e339a5a
22:21351222 LZTR1 C>T	22	21351222	21351222	C	T	LZTR1	c.2373C>T	NM_006767.3	NP_006758.2:p.(His791=)	NC_000022.10:g.21351222C>T	(Likely) benign	1 lab	783e502484
19:39002942 RYR1 G>C	19	39002942	39002942	G	C	RYR1	c.9291G>C	NM_000540.2	NP_000531.2:p.(Glu3097Asp)	NC_000019.9:g.39002942G>C	VUS	1 lab	784b68c70a
2:167129405 SCN9A G>C	2	167129405	167129405	G	C	SCN9A	c.2842-20C>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167129405G>C	(Likely) benign	1 lab	784d68ba18
9:135229016 SETX C>T	9	135229016	135229016	C	T	SETX	c.-8+20G>A	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135229016C>T	VUS	1 lab	787aa835a1
1:94506902 ABCA4 G>A	1	94506902	94506902	G	A	ABCA4	c.3385C>T	NM_000350.2	NP_000341.2:p.(Arg1129Cys)	NC_000001.10:g.94506902G>A	(Likely) pathogenic	1 lab	7856a2afbe
12:112892486 PTPN11 T>G	12	112892486	112892486	T	G	PTPN11	c.642+2T>G	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112892486T>G	(Likely) pathogenic	1 lab	7856ff433a
6:70991080 COL9A1 G>A	6	70991080	70991080	G	A	COL9A1	c.876+13C>T	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70991080G>A	(Likely) benign	1 lab	78585d577c
8:42694344 THAP1 AGT>A	8	42694344	42694346	AGT	A	THAP1	c.250_251del	NM_018105.3	NP_060575.1:p.(Thr84Ter)	NC_000008.10:g.42694345_42694346del	(Likely) pathogenic	1 lab	033475b444
2:165986748 SCN3A A>G	2	165986748	165986748	A	G	SCN3A	c.2624T>C	NM_006922.3	NP_008853.3:p.(Ile875Thr)	NC_000002.11:g.165986748A>G	(Likely) pathogenic	1 lab	78598c8fa6
5:127700362 FBN2 A>T	5	127700362	127700362	A	T	FBN2	c.2359T>A	NM_001999.4	NP_001990.2:p.(Leu787Ile)	NC_000005.9:g.127700362A>T	(Likely) benign	1 lab	785b2543a4
5:112175579 APC ACCATGCCACCAAG>A	5	112175579	112175593	ACCATGCCACCAAG	A	APC	c.4290_4302del	NM_000038.6	NP_000029.2:p.(Met1431GlufsTer38)	NC_000005.9:g.112175581_112175593del	(Likely) pathogenic	1 lab	785bc27fc2
11:76912636 MYO7A A>T	11	76912636	76912636	A	T	MYO7A	c.4996A>T	NM_000260.3	NP_000251.3:p.(Ser1666Cys)	NC_000011.9:g.76912636A>T	(Likely) benign	1 lab	785e8bdeef
17:33443999 RAD51D C>A	17	33443999	33443999	C	A	RAD51D	c.263+1521G>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443999C>A	(Likely) benign	1 lab	785f10c326
4:166913955 TLL1 G>C	4	166913955	166913955	G	C	TLL1	c.281-1G>C	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166913955G>C	VUS	1 lab	785f8de699
6:79671492 PHIP G>A	6	79671492	79671492	G	A	PHIP	c.3571C>T	NM_017934.5	NP_060404.3:p.(Gln1191Ter)	NC_000006.11:g.79671492G>A	(Likely) pathogenic	1 lab	78604a8815
3:38760152 SCN10A T>G	3	38760152	38760152	T	G	SCN10A	c.3673A>C	NM_006514.3	NP_006505.3:p.(Ile1225Leu)	NC_000003.11:g.38760152T>G	(Likely) pathogenic	1 lab	78620a3b3a
3:121340320 FBXO40 G>C	3	121340320	121340320	G	C	FBXO40	c.44G>C	NM_016298.3	NP_057382.2:p.(Cys15Ser)	NC_000003.11:g.121340320G>C	VUS	1 lab	7862468d58
7:150644394 KCNH2 C>T	7	150644394	150644394	C	T	KCNH2	c.3152+22G>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150644394C>T	(Likely) benign	1 lab	78630f8115
11:13733478 FAR1 G>A	11	13733478	13733478	G	A	FAR1	c.772G>A	NM_032228.5	NP_115604.1:p.(Gly258Arg)	NC_000011.9:g.13733478G>A	(Likely) pathogenic	1 lab	78643d316a
15:63354418 TPM1 C>A	15	63354418	63354418	C	A	TPM1	c.644C>A	NM_001018005.2	NP_001018005.1:p.(Ser215Ter)	NC_000015.9:g.63354418C>A	VUS	1 lab	786582dff5
20:31021211 ASXL1 C>T	20	31021211	31021211	C	T	ASXL1	c.1210C>T	NM_015338.5	NP_056153.2:p.(Arg404Ter)	NC_000020.10:g.31021211C>T	(Likely) pathogenic	1 lab	7868af39f9
6:86283985 SNX14 G>C	6	86283985	86283985	G	C	SNX14	c.252C>G	NM_153816.5	NP_722523.1:p.(Tyr84Ter)	NC_000006.11:g.86283985G>C	(Likely) pathogenic	1 lab	78695e33cb
3:124951742 ZNF148 G>A	3	124951742	124951742	G	A	ZNF148	c.1828C>T	NM_001348424.1	NP_001335353.1:p.(Gln610Ter)	NC_000003.11:g.124951742G>A	(Likely) pathogenic	1 lab	03374b9c5f
2:98351081 ZAP70 C>T	2	98351081	98351081	C	T	ZAP70	c.988C>T	NM_001079.3	NP_001070.2:p.(Leu330Phe)	NC_000002.11:g.98351081C>T	(Likely) benign	1 lab	0bc330347e
16:58583702 CNOT1 A>G	16	58583702	58583702	A	G	CNOT1	c.3443T>C	NM_016284.4	NP_057368.3:p.(Leu1148Pro)	NC_000016.9:g.58583702A>G	(Likely) pathogenic	1 lab	786b4b1a4f
14:105156076 INF2 G>A	14	105156076	105156076	G	A	INF2	c.-10G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105156076G>A	(Likely) benign	1 lab	786ba5ce74
3:49160875 LAMB2 C>T	3	49160875	49160875	C	T	LAMB2	c.3982+5G>A	NM_002292.3	NP_002283.3:p.?	NC_000003.11:g.49160875C>T	(Likely) pathogenic	1 lab	786bec1364
15:93515552 CHD2 C>T	15	93515552	93515552	C	T	CHD2				NC_000015.9:g.93515552C>T	(Likely) pathogenic	1 lab	7bb1c4ea17
19:35530128 SCN1B G>A	19	35530128	35530128	G	A	SCN1B	c.556G>A	NM_001037.5	NP_001028.1:p.(Ala186Thr)	NC_000019.9:g.35530128G>A	(Likely) benign	1 lab	786c26f7b1
21:38792688 DYRK1A T>C	21	38792688	38792688	T	C	DYRK1A	c.10+2T>C	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38792688T>C	(Likely) pathogenic	1 lab	786df64825
2:179560645 TTN T>C	2	179560645	179560645	T	C	TTN	c.31154A>G	NM_001267550.2	NP_001254479.2:p.(Glu10385Gly)	NC_000002.11:g.179560645T>C	(Likely) benign	1 lab	78739b7f1f
9:5022204 JAK2 A>G	9	5022204	5022204	A	G	JAK2	c.217A>G	NM_004972.4	NP_004963.1:p.(Lys73Glu)	NC_000009.11:g.5022204A>G	VUS	1 lab	0339470db6
13:26434332 ATP8A2 G>A	13	26434332	26434332	G	A	ATP8A2	c.2957-1G>A	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26434332G>A	VUS	1 lab	03398ba7f1
3:140275500 CLSTN2 T>C	3	140275500	140275500	T	C	CLSTN2	c.1820T>C	NM_022131.2	NP_071414.2:p.(Val607Ala)	NC_000003.11:g.140275500T>C	VUS	1 lab	7879ad11cd
11:61205292 SDHAF2 G>C	11	61205292	61205292	G	C	SDHAF2	c.232G>C	NM_017841.2	NP_060311.1:p.(Gly78Arg)	NC_000011.9:g.61205292G>C	(Likely) pathogenic	1 lab	787f480c6d
1:17349238 SDHB G>A	1	17349238	17349238	G	A	SDHB	c.643-13C>T	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17349238G>A	(Likely) benign	1 lab	7880a18adf
11:47361315 MYBPC3 G>T	11	47361315	47361315	G	T	MYBPC3	c.1954C>A	NM_000256.3	NP_000247.2:p.(Pro652Thr)	NC_000011.9:g.47361315G>T	VUS	1 lab	7880deab4b
17:44110541 KANSL1 G>A	17	44110541	44110541	G	A	KANSL1				NC_000017.10:g.44110541G>A	(Likely) benign	1 lab	78841ed9bd
2:179427229 TTN C>T	2	179427229	179427229	C	T	TTN	c.83630G>A	NM_001267550.2	NP_001254479.2:p.(Arg27877His)	NC_000002.11:g.179427229C>T	(Likely) benign	1 lab	7885840197
7:128485020 FLNC C>T	7	128485020	128485020	C	T	FLNC	c.3501C>T	NM_001458.5	NP_001449.3:p.(Arg1167=)	NC_000007.13:g.128485020C>T	(Likely) benign	1 lab	788699424e
1:164776864 PBX1 G>A	1	164776864	164776864	G	A	PBX1				NC_000001.10:g.164776864G>A	VUS	1 lab	7887317376
9:36236899 GNE A>T	9	36236899	36236899	A	T	GNE	c.699T>A	NM_005476.7	NP_005467.1:p.(Phe233Leu)	NC_000009.11:g.36236899A>T	VUS	1 lab	788a67ae3e
6:129785598 LAMA2 G>A	6	129785598	129785598	G	A	LAMA2	c.7155+1G>A	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129785598G>A	(Likely) pathogenic	1 lab	788bfbcfd6
5:149286908 PDE6A G>T	5	149286908	149286908	G	T	PDE6A	c.1032C>A	NM_000440.2	NP_000431.2:p.(Ser344Arg)	NC_000005.9:g.149286908G>T	(Likely) pathogenic	1 lab	788e13278c
9:131353850 SPTAN1 A>G	9	131353850	131353850	A	G	SPTAN1	c.3101A>G	NM_001130438.2	NP_001123910.1:p.(Asn1034Ser)	NC_000009.11:g.131353850A>G	(Likely) benign	1 lab	7892d4ac6c
2:179483046 TTN ACT>A	2	179483046	179483052	ACT	A	TTN	c.47137_47138del	NM_001267550.2	NP_001254479.2:p.(Ser15713LeufsTer2)	NC_000002.11:g.179483051_179483052del	(Likely) pathogenic	1 lab	7895730d76
16:9857737 GRIN2A G>C	16	9857737	9857737	G	C	GRIN2A				NC_000016.9:g.9857737G>C	VUS	1 lab	8c559b82ee
2:209214770 PIKFYVE A>G	2	209214770	209214770	A	G	PIKFYVE	c.5397A>G	NM_015040.4	NP_055855.2:p.(Thr1799=)	NC_000002.11:g.209214770A>G	(Likely) benign	1 lab	033a469063
7:154519519 MISSING G>A	7	154519519	154519519	G	A	MISSING				NC_000007.13:g.154519519G>A	(Likely) benign	1 lab	7903277c81
14:51099008 ATL1 C>T	14	51099008	51099008	C	T	ATL1	c.1628C>T	NM_015915.4	NP_056999.2:p.(Pro543Leu)	NC_000014.8:g.51099008C>T	VUS	1 lab	78a51a4ea5
1:209963115 IRF6 T>C	1	209963115	209963115	T	C	IRF6	c.1076A>G	NM_006147.4	NP_006138.1:p.(Gln359Arg)	NC_000001.10:g.209963115T>C	(Likely) pathogenic	1 lab	78a5e6b56a
2:241817061 AGXT C>G	2	241817061	241817061	C	G	AGXT	c.942+12C>G	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241817061C>G	(Likely) benign	1 lab	0bc3c6e09a
2:179407152 TTN C>G	2	179407152	179407152	C	G	TTN	c.97331G>C	NM_001267550.2	NP_001254479.2:p.(Arg32444Pro)	NC_000002.11:g.179407152C>G	(Likely) benign	1 lab	78a71cbddd
22:38370184 SOX10 G>T	22	38370184	38370184	G	T	SOX10	c.719C>A	NM_006941.4	NP_008872.1:p.(Thr240Asn)	NC_000022.10:g.38370184G>T	VUS	1 lab	78aa69bcad
1:94586541 ABCA4 G>A	1	94586541	94586541	G	A	ABCA4	c.61C>T	NM_000350.2	NP_000341.2:p.(Gln21Ter)	NC_000001.10:g.94586541G>A	(Likely) pathogenic	1 lab	78ab5d5be5
19:46285671 DMPK G>A	19	46285671	46285671	G	A	DMPK	c.-42C>T	NM_001288764.2	NP_001275693.1:p.?	NC_000019.9:g.46285671G>A	VUS	1 lab	033cd0a709
14:23893178 MYH7 T>A	14	23893178	23893178	T	A	MYH7	c.2860A>T	NM_000257.4	NP_000248.2:p.(Ile954Phe)	NC_000014.8:g.23893178T>A	VUS	1 lab	78ad5dd4d9
11:61723361 BEST1 T>A	11	61723361	61723361	T	A	BEST1	c.419T>A	NM_004183.3	NP_004174.1:p.(Leu140Gln)	NC_000011.9:g.61723361T>A	VUS	1 lab	78b22373af
2:46583279 EPAS1 C>CT	2	46583279	46583280	C	CT	EPAS1	c.218-11_218-10insT	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583279_46583280insT	(Likely) benign	1 lab	0bc4473771
11:77090328 PAK1 A>G	11	77090328	77090328	A	G	PAK1	c.397T>C	NM_002576.5	NP_002567.3:p.(Ser133Pro)	NC_000011.9:g.77090328A>G	(Likely) pathogenic	1 lab	78b34b837f
2:166929902 SCN1A A>C	2	166929902	166929902	A	C	SCN1A	c.230T>G	NM_001165963.4	NP_001159435.1:p.(Leu77Arg)	NC_000002.11:g.166929902A>C	VUS	1 lab	78b4e77d49
17:41244945 BRCA1 G>A	17	41244945	41244945	G	A	BRCA1	c.2603C>T	NM_007294.3	NP_009225.1:p.(Ser868Leu)	NC_000017.10:g.41244945G>A	VUS	1 lab	78b8505fe4
6:26157053 H1-4 C>CA	6	26157053	26157054	C	CA	H1-4	c.436dup	NM_005321.2	NP_005312.1:p.(Thr146AsnfsTer50)	NC_000006.11:g.26157054dup	(Likely) pathogenic	1 lab	78b891b28a
2:168931610 STK39 G>A	2	168931610	168931610	G	A	STK39	c.1212+9C>T	NM_013233.2	NP_037365.2:p.?	NC_000002.11:g.168931610G>A	(Likely) benign	1 lab	78bad51f60
1:36025917 NCDN C>G	1	36025917	36025917	C	G	NCDN	c.175-10C>G	NM_014284.3	NP_055099.1:p.?	NC_000001.10:g.36025917C>G	VUS	1 lab	78c0a67fb5
3:10188286 VHL C>G	3	10188286	10188286	C	G	VHL	c.429C>G	NM_000551.3	NP_000542.1:p.(Asp143Glu)	NC_000003.11:g.10188286C>G	VUS	1 lab	78c0d5fb9e
10:89711892 PTEN T>G	10	89711892	89711892	T	G	PTEN	c.510T>G	NM_000314.4	NP_000305.3:p.(Ser170Arg)	NC_000010.10:g.89711892T>G	(Likely) pathogenic	1 lab	78c36acf14
1:237813400 RYR2 G>A	1	237813400	237813400	G	A	RYR2	c.7733+3G>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237813400G>A	(Likely) benign	1 lab	78c3eccd9d
2:48023132 MSH6 AC>A	2	48023132	48023133	AC	A	MSH6	c.558del	NM_000179.3	NP_000170.1:p.(Asp186GlufsTer25)	NC_000002.11:g.48023133del	(Likely) pathogenic	1 lab	78c670e3cd
7:100225871 TFR2 G>A	7	100225871	100225871	G	A	TFR2	c.1449C>T	NM_003227.4	NP_003218.2:p.(Ser483=)	NC_000007.13:g.100225871G>A	(Likely) benign	1 lab	78cd4994e6
10:92680087 ANKRD1 C>T	10	92680087	92680087	C	T	ANKRD1	c.46G>A	NM_014391.2	NP_055206.2:p.(Gly16Ser)	NC_000010.10:g.92680087C>T	(Likely) benign	1 lab	78cdead340
2:166848795 SCN1A T>G	2	166848795	166848795	T	G	SCN1A	c.4990A>C	NM_001165963.2	NP_001159435.1:p.(Met1664Leu)	NC_000002.11:g.166848795T>G	VUS	1 lab	78d5fa5040
X:107842085 COL4A5 C>T	X	107842085	107842085	C	T	COL4A5	c.1933C>T	NM_033380.2	NP_203699.1:p.(Gln645Ter)	NC_000023.10:g.107842085C>T	(Likely) pathogenic	1 lab	78d613369a
11:111708992 ALG9 C>T	11	111708992	111708992	C	T	ALG9	c.791G>A	NM_001077691.2	NP_001071159.1:p.(Arg264His)	NC_000011.9:g.111708992C>T	VUS	1 lab	033dba2db7
13:32893393 BRCA2 G>T	13	32893393	32893393	G	T	BRCA2	c.247G>T	NM_000059.3	NP_000050.2:p.(Glu83Ter)	NC_000013.10:g.32893393G>T	(Likely) pathogenic	1 lab	78d79cfa0c
12:6085380 VWF TC>T	12	6085380	6085383	TC	T	VWF	c.7333del	NM_000552.3	NP_000543.2:p.(Glu2445ArgfsTer16)	NC_000012.11:g.6085383del	(Likely) pathogenic	1 lab	78dfb30989
1:196794653 CFHR1 T>C	1	196794653	196794653	T	C	CFHR1	c.105T>C	NM_002113.3	NP_002104.2:p.(Asp35=)	NC_000001.10:g.196794653T>C	(Likely) benign	1 lab	78dfd7a71e
13:101720300 NALCN T>G	13	101720300	101720300	T	G	NALCN	c.4416A>C	NM_052867.3	NP_443099.1:p.(Ile1472=)	NC_000013.10:g.101720300T>G	(Likely) benign	1 lab	78e287bd69
3:69998200 MITF A>G	3	69998200	69998200	A	G	MITF	c.442-2A>G	NM_000248.3	NP_000239.1:p.?	NC_000003.11:g.69998200A>G	(Likely) pathogenic	1 lab	78e3b36fe0
15:78423771 CIB2 G>A	15	78423771	78423771	G	A	CIB2	c.-214C>T	NM_006383.2	NP_006374.1:p.?	NC_000015.9:g.78423771G>A	(Likely) benign	1 lab	78e3f7bc5c
22:32239084 DEPDC5 T>C	22	32239084	32239084	T	C	DEPDC5	c.2519T>C	NM_001242896.1	NP_001229825.1:p.(Leu840Pro)	NC_000022.10:g.32239084T>C	VUS	1 lab	78e4aae3cc
13:20763441 GJB2 G>C	13	20763441	20763441	G	C	GJB2	c.280C>G	NM_004004.5	NP_003995.2:p.(His94Asp)	NC_000013.10:g.20763441G>C	VUS	1 lab	78e7ff8fae
1:228522776 OBSCN C>A	1	228522776	228522776	C	A	OBSCN	c.19058-5C>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228522776C>A	(Likely) benign	1 lab	0bcc76e7b0
3:181430281 SOX2 A>C	3	181430281	181430281	A	C	SOX2	c.133A>C	NM_003106.3	NP_003097.1:p.(Met45Leu)	NC_000003.11:g.181430281A>C	(Likely) pathogenic	1 lab	78eb5c337b
17:78079837 GAA A>G	17	78079837	78079837	A	G	GAA	c.692+144A>G	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079837A>G	(Likely) benign	1 lab	8dd60b08fb
3:100951850 IMPG2 A>T	3	100951850	100951850	A	T	IMPG2	c.3023-15T>A	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100951850A>T	(Likely) pathogenic	1 lab	78f07f4749
3:178952074 PIK3CA G>T	3	178952074	178952074	G	T	PIK3CA	c.3129G>T	NM_006218.3	NP_006209.2:p.(Met1043Ile)	NC_000003.11:g.178952074G>T	(Likely) pathogenic	1 lab	78f392a561
20:42741061 JPH2 A>G	20	42741061	42741061	A	G	JPH2	c.*1097T>C	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42741061A>G	(Likely) benign	1 lab	78f4e72828
2:220011416 NHEJ1 G>A	2	220011416	220011416	G	A	NHEJ1	c.574C>T	NM_024782.2	NP_079058.1:p.(Gln192Ter)	NC_000002.11:g.220011416G>A	(Likely) pathogenic	1 lab	78f53e6b31
19:39052024 RYR1 C>T	19	39052024	39052024	C	T	RYR1	c.12554C>T	NM_000540.2	NP_000531.2:p.(Ala4185Val)	NC_000019.9:g.39052024C>T	VUS	1 lab	78f6da6b44
13:32911806 BRCA2 C>A	13	32911806	32911806	C	A	BRCA2	c.3314C>A	NM_000059.3	NP_000050.2:p.(Pro1105His)	NC_000013.10:g.32911806C>A	VUS	1 lab	78fe9d971b
1:155874285 RIT1 A>T	1	155874285	155874285	A	T	RIT1	c.297T>A	NM_001256821.1	NP_001243750.1:p.(Phe99Leu)	NC_000001.10:g.155874285A>T	(Likely) pathogenic	1 lab	78fec50b4a
2:47630549 MSH2 C>T	2	47630549	47630549	C	T	MSH2	c.211+8C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47630549C>T	(Likely) benign	1 lab	79011d2396
2:228158035 COL4A3 T>C	2	228158035	228158035	T	C	COL4A3	c.3337+2T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228158035T>C	(Likely) pathogenic	1 lab	7905f96500
20:9376172 PLCB4 C>T	20	9376172	9376172	C	T	PLCB4	c.1417C>T	NM_000933.3	NP_000924.3:p.(Gln473Ter)	NC_000020.10:g.9376172C>T	(Likely) pathogenic	1 lab	79064facee
1:247607348 NLRP3 C>T	1	247607348	247607348	C	T	NLRP3				NC_000001.10:g.247607348C>T	VUS	1 lab	7bb3d554a2
3:38519738 ACVR2B G>A	3	38519738	38519738	G	A	ACVR2B	c.477G>A	NM_001106.3	NP_001097.2:p.(Met159Ile)	NC_000003.11:g.38519738G>A	(Likely) benign	1 lab	7908673e5d
10:112343293 SMC3 A>G	10	112343293	112343293	A	G	SMC3	c.956A>G	NM_005445.4	NP_005436.1:p.(Asn319Ser)	NC_000010.10:g.112343293A>G	VUS	1 lab	7909bb1a94
18:77171299 NFATC1 C>T	18	77171299	77171299	C	T	NFATC1	c.1024C>T	NM_001278669.1	NP_001265598.1:p.(Gln342Ter)	NC_000018.9:g.77171299C>T	VUS	1 lab	7909e476b1
2:228134648 COL4A3 G>C	2	228134648	228134648	G	C	COL4A3	c.1527G>C	NM_000091.4	NP_000082.2:p.(Leu509Phe)	NC_000002.11:g.228134648G>C	(Likely) benign	1 lab	790a99583e
7:47884618 PKD1L1 C>T	7	47884618	47884618	C	T	PKD1L1	c.5212G>A	NM_138295.3	NP_612152.1:p.(Val1738Met)	NC_000007.13:g.47884618C>T	(Likely) benign	1 lab	790af67da6
11:119148930 CBL T>C	11	119148930	119148930	T	C	CBL	c.1150T>C	NM_005188.3	NP_005179.2:p.(Cys384Arg)	NC_000011.9:g.119148930T>C	VUS	1 lab	790b2f4ac1
3:189582060 TP63 A>G	3	189582060	189582060	A	G	TP63	c.619A>G	NM_003722.4	NP_003713.3:p.(Lys207Glu)	NC_000003.11:g.189582060A>G	(Likely) pathogenic	1 lab	790b3141b3
1:152277168 FLG A>G	1	152277168	152277168	A	G	FLG	c.10194T>C	NM_002016.1	NP_002007.1:p.(Ser3398=)	NC_000001.10:g.152277168A>G	(Likely) benign	1 lab	790bad9c8a
17:29528038 NF1 T>A	17	29528038	29528038	T	A	NF1	c.1063-17T>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29528038T>A	VUS	1 lab	790d73a358
14:23865526 MYH6 A>G	14	23865526	23865526	A	G	MYH6	c.2396T>C	NM_002471.3	NP_002462.2:p.(Met799Thr)	NC_000014.8:g.23865526A>G	VUS	1 lab	790f91cf35
17:38450640 CDC6 C>G	17	38450640	38450640	C	G	CDC6	c.968C>G	NM_001254.3	NP_001245.1:p.(Thr323Arg)	NC_000017.10:g.38450640C>G	(Likely) pathogenic	1 lab	7913ac2ce1
15:86838640 AGBL1 G>A	15	86838640	86838640	G	A	AGBL1	c.2374+1G>A	NM_152336.3	NP_689549.3:p.?	NC_000015.9:g.86838640G>A	VUS	1 lab	813e0b34ad
1:21894610 ALPL G>T	1	21894610	21894610	G	T	ALPL	c.662G>T	NM_000478.4	NP_000469.3:p.(Gly221Val)	NC_000001.10:g.21894610G>T	(Likely) pathogenic	1 lab	791a879ca7
15:85186637 WDR73 G>C	15	85186637	85186637	G	C	WDR73	c.*64C>G	NM_032856.3	NP_116245.2:p.?	NC_000015.9:g.85186637G>C	(Likely) benign	1 lab	7922a62bd0
16:16248886 ABCC6 C>T	16	16248886	16248886	C	T	ABCC6	c.3885G>A	NM_001171.5	NP_001162.4:p.(Val1295=)	NC_000016.9:g.16248886C>T	(Likely) benign	1 lab	7926a9df1c
12:103245533 PAH C>T	12	103245533	103245533	C	T	PAH	c.844G>A	NM_000277.3	NP_000268.1:p.(Asp282Asn)	NC_000012.11:g.103245533C>T	(Likely) pathogenic	1 lab	7929f84177
1:2160959 SKI C>T	1	2160959	2160959	C	T	SKI	c.754C>T	NM_003036.4	NP_003027.1:p.(Leu252Phe)	NC_000001.10:g.2160959C>T	VUS	1 lab	792a007191
8:100887804 VPS13B C>G	8	100887804	100887804	C	G	VPS13B	c.11979C>G	NM_017890.5	NP_060360.3:p.(Tyr3993Ter)	NC_000008.10:g.100887804C>G	VUS	1 lab	0347bc450c
5:112174391 APC G>T	5	112174391	112174391	G	T	APC				NC_000005.9:g.112174391G>T	(Likely) pathogenic	1 lab	792ae1c45d
10:18787277 CACNB2 A>T	10	18787277	18787277	A	T	CACNB2	c.334-7A>T	NM_201596.2	NP_963890.2:p.?	NC_000010.10:g.18787277A>T	(Likely) benign	1 lab	792c1de486
1:155874289 RIT1 T>C	1	155874289	155874289	T	C	RIT1	c.242A>G	NM_006912.6	NP_008843.1:p.(Glu81Gly)	NC_000001.10:g.155874289T>C	(Likely) pathogenic	1 lab	792ca2dc84
3:37058999 MLH1 C>A	3	37058999	37058999	C	A	MLH1	c.793C>A	NM_000249.3	NP_000240.1:p.(Arg265Ser)	NC_000003.11:g.37058999C>A	(Likely) pathogenic	1 lab	792f94803f
16:71660404 MISSING G>A	16	71660404	71660404	G	A	MISSING				NC_000016.9:g.71660404G>A	(Likely) benign	1 lab	79317b92b5
2:179459150 TTN G>A	2	179459150	179459150	G	A	TTN	c.58071C>T	NM_001267550.2	NP_001254479.2:p.(Tyr19357=)	NC_000002.11:g.179459150G>A	(Likely) benign	1 lab	7936914ce1
2:170099473 LRP2 T>C	2	170099473	170099473	T	C	LRP2	c.3660A>G	NM_004525.2	NP_004516.2:p.(Ala1220=)	NC_000002.11:g.170099473T>C	(Likely) benign	1 lab	7936d6fa8c
3:12458614 PPARG G>A	3	12458614	12458614	G	A	PPARG	c.1141G>A	NM_138711.6	NP_619725.3:p.(Asp381Asn)	NC_000003.11:g.12458614G>A	(Likely) benign	1 lab	79375fa83b
1:94484123 ABCA4 T>C	1	94484123	94484123	T	C	ABCA4	c.5196+1015A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94484123T>C	(Likely) benign	1 lab	793867c2aa
3:38783896 SCN10A A>T	3	38783896	38783896	A	T	SCN10A	c.1992T>A	NM_006514.3	NP_006505.3:p.(Asp664Glu)	NC_000003.11:g.38783896A>T	VUS	1 lab	7938a21e81
22:40078526 CACNA1I TGC>T	22	40078526	40078529	TGC	T	CACNA1I	c.5692_5693del	NM_021096.4	NP_066919.2:p.(Arg1898CysfsTer26)	NC_000022.10:g.40078528_40078529del	VUS	1 lab	03480c8cee
1:165182958 LMX1A G>A	1	165182958	165182958	G	A	LMX1A	c.589C>T	NM_177398.3	NP_796372.1:p.(Arg197Cys)	NC_000001.10:g.165182958G>A	(Likely) benign	1 lab	793c43948f
17:39766695 KRT16 G>A	17	39766695	39766695	G	A	KRT16	c.1168C>T	NM_005557.4	NP_005548.2:p.(Arg390Cys)	NC_000017.10:g.39766695G>A	(Likely) benign	1 lab	0351c64352
2:27466145 CAD G>A	2	27466145	27466145	G	A	CAD	c.6560G>A	NM_004341.3	NP_004332.2:p.(Arg2187His)	NC_000002.11:g.27466145G>A	VUS	1 lab	794187c6ce
5:137766025 KDM3B C>T	5	137766025	137766025	C	T	KDM3B	c.4981C>T	NM_016604.4	NP_057688.3:p.(Arg1661Ter)	NC_000005.9:g.137766025C>T	(Likely) pathogenic	1 lab	7942278061
2:220283732 DES T>C	2	220283732	220283732	T	C	DES	c.548T>C	NM_001927.3	NP_001918.3:p.(Leu183Pro)	NC_000002.11:g.220283732T>C	VUS	1 lab	794bf21320
12:89744773 DUSP6 A>C	12	89744773	89744773	A	C	DUSP6	c.430T>G	NM_001946.2	NP_001937.2:p.(Ser144Ala)	NC_000012.11:g.89744773A>C	(Likely) benign	1 lab	794ce36194
12:2602537 CACNA1C G>A	12	2602537	2602537	G	A	CACNA1C	c.1098G>A	NM_199460.3	NP_955630.3:p.(Thr366=)	NC_000012.11:g.2602537G>A	(Likely) benign	1 lab	794d97425d
17:60033065 MED13 G>A	17	60033065	60033065	G	A	MED13	c.5758C>T	NM_005121.2	NP_005112.2:p.(Gln1920Ter)	NC_000017.10:g.60033065G>A	(Likely) pathogenic	1 lab	794e8e8d3f
22:30032865 NF2 G>A	22	30032865	30032865	G	A	NF2	c.240G>A	NM_000268.4	NP_000259.1:p.(Lys80=)	NC_000022.10:g.30032865G>A	(Likely) pathogenic	1 lab	79524614ab
16:2156447 PKD1 G>A	16	2156447	2156447	G	A	PKD1	c.7441C>T	NM_001009944.2	NP_001009944.2:p.(Leu2481=)	NC_000016.9:g.2156447G>A	(Likely) benign	1 lab	7958665ef8
16:359953 AXIN1 A>G	16	359953	359953	A	G	AXIN1	c.1116+20T>C	NM_003502.4	NP_003493.1:p.?	NC_000016.9:g.359953A>G	(Likely) benign	1 lab	0352605477
18:28667787 DSC2 AG>A	18	28667787	28667788	AG	A	DSC2	c.631-12del	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28667788del	(Likely) benign	1 lab	795af7a566
14:91806263 CCDC88C G>A	14	91806263	91806263	G	A	CCDC88C	c.589C>T	NM_001080414.4	NP_001073883.2:p.(Arg197Trp)	NC_000014.8:g.91806263G>A	VUS	1 lab	035c4c147e
5:138223200 CTNNA1 C>T	5	138223200	138223200	C	T	CTNNA1	c.1165C>T	NM_001903.5	NP_001894.2:p.(His389Tyr)	NC_000005.9:g.138223200C>T	VUS	1 lab	796010dc39
3:37042540 MLH1 G>A	3	37042540	37042540	G	A	MLH1	c.302G>A	NM_000249.4	NP_000240.1:p.(Gly101Asp)	NC_000003.11:g.37042540G>A	(Likely) pathogenic	1 lab	796237ab98
2:121742108 GLI2 G>A	2	121742108	121742108	G	A	GLI2				NC_000002.11:g.121742108G>A	VUS	1 lab	79632bba5a
X:70344178 MED12 T>A	X	70344178	70344178	T	A	MED12	c.1914T>A	NM_005120.3	NP_005111.2:p.(Asp638Glu)	NC_000023.10:g.70344178T>A	(Likely) benign	1 lab	79653f1c67
3:10183537 VHL C>A	3	10183537	10183537	C	A	VHL	c.6C>A	NM_000551.3	NP_000542.1:p.(Pro2=)	NC_000003.11:g.10183537C>A	(Likely) benign	1 lab	796d7d6e2f
8:37599288 ERLIN2 A>G	8	37599288	37599288	A	G	ERLIN2	c.190-2A>G	NM_007175.6	NP_009106.1:p.?	NC_000008.10:g.37599288A>G	(Likely) pathogenic	1 lab	796e7dbe22
9:35060824 VCP T>C	9	35060824	35060824	T	C	VCP	c.1456A>G	NM_007126.3	NP_009057.1:p.(Lys486Glu)	NC_000009.11:g.35060824T>C	VUS	1 lab	7971d71c13
17:61678703 TACO1 C>T	17	61678703	61678703	C	T	TACO1	c.261C>T	NM_016360.4	NP_057444.2:p.(Asn87=)	NC_000017.10:g.61678703C>T	(Likely) benign	1 lab	03601c6887
11:108128373 ATM A>G	11	108128373	108128373	A	G	ATM	c.2376+40A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108128373A>G	(Likely) benign	1 lab	79748d4085
2:179666963 TTN G>A	2	179666963	179666963	G	A	TTN	c.197C>T	NM_001267550.2	NP_001254479.2:p.(Thr66Met)	NC_000002.11:g.179666963G>A	(Likely) benign	1 lab	7974bbedd1
X:73963373 NEXMIF C>G	X	73963373	73963373	C	G	NEXMIF	c.1019G>C	NM_001008537.3	NP_001008537.1:p.(Ser340Thr)	NC_000023.10:g.73963373C>G	VUS	1 lab	036087d83b
3:120365149 HGD C>A	3	120365149	120365149	C	A	HGD	c.614G>T	NM_000187.4	NP_000178.2:p.(Gly205Val)	NC_000003.11:g.120365149C>A	(Likely) pathogenic	1 lab	797a2823ad
11:66393052 RBM14 G>A	11	66393052	66393052	G	A	RBM14	c.1705G>A	NM_006328.3	NP_006319.1:p.(Ala569Thr)	NC_000011.9:g.66393052G>A	VUS	1 lab	79981875e7
13:25486911 CENPJ G>T	13	25486911	25486911	G	T	CENPJ				NC_000013.10:g.25486911G>T	(Likely) benign	1 lab	797a89462b
19:38960075 RYR1 G>A	19	38960075	38960075	G	A	RYR1	c.3687G>A	NM_000540.2	NP_000531.2:p.(Met1229Ile)	NC_000019.9:g.38960075G>A	VUS	1 lab	797df3731b
19:6710722 C3 G>A	19	6710722	6710722	G	A	C3	c.1614C>T	NM_000064.2	NP_000055.2:p.(Ile538=)	NC_000019.9:g.6710722G>A	(Likely) benign	1 lab	798181af70
3:12650799 RAF1 G>A	3	12650799	12650799	G	A	RAF1	c.356C>T	NM_002880.3	NP_002871.1:p.(Ala119Val)	NC_000003.11:g.12650799G>A	VUS	1 lab	7984990f34
7:154645534 MISSING A>C	7	154645534	154645534	A	C	MISSING				NC_000007.13:g.154645534A>C	(Likely) benign	1 lab	7986baba48
1:16377979 CLCNKB A>G	1	16377979	16377979	A	G	CLCNKB	c.1234A>G	NM_000085.4	NP_000076.2:p.(Met412Val)	NC_000001.10:g.16377979A>G	(Likely) pathogenic	1 lab	7989c3633f
20:42815687 JPH2 A>T	20	42815687	42815687	A	T	JPH2	c.-342T>A	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42815687A>T	VUS	1 lab	798c1601fa
2:109384746 RANBP2 A>G	2	109384746	109384746	A	G	RANBP2	c.7751A>G	NM_006267.4	NP_006258.3:p.(Asp2584Gly)	NC_000002.11:g.109384746A>G	(Likely) benign	1 lab	0be5f5f877
12:52159540 SCN8A A>G	12	52159540	52159540	A	G	SCN8A				NC_000012.11:g.52159540A>G	VUS	1 lab	798fa650f8
6:72968700 RIMS1 A>C	6	72968700	72968700	A	C	RIMS1	c.2939A>C	NM_014989.5	NP_055804.2:p.(Glu980Ala)	NC_000006.11:g.72968700A>C	VUS	1 lab	7990c1253f
1:152283862 FLG G>C	1	152283862	152283862	G	C	FLG	c.3500C>G	NM_002016.1	NP_002007.1:p.(Ala1167Gly)	NC_000001.10:g.152283862G>C	(Likely) benign	1 lab	79963c46eb
15:43494289 EPB42 ACT>A	15	43494289	43494292	ACT	A	EPB42	c.1780-116_1780-115del	NM_001114134.2	NP_001107606.1:p.?	NC_000015.9:g.43494291_43494292del	(Likely) benign	1 lab	0be85b2669
13:96229484 CLDN10 G>A	13	96229484	96229484	G	A	CLDN10	c.465-1G>A	NM_006984.4	NP_008915.1:p.?	NC_000013.10:g.96229484G>A	VUS	1 lab	79987ea230
1:155870329 RIT1 A>G	1	155870329	155870329	A	G	RIT1	c.510T>C	NM_006912.6	NP_008843.1:p.(Tyr170=)	NC_000001.10:g.155870329A>G	(Likely) benign	1 lab	79988aa1ab
4:41259738 UCHL1 T>TG	4	41259738	41259739	T	TG	UCHL1	c.158_159insG	NM_004181.5	NP_004172.2:p.(Phe53LeufsTer8)	NC_000004.11:g.41259738_41259739insG	(Likely) pathogenic	1 lab	79997a56f2
X:53230895 KDM5C T>C	X	53230895	53230895	T	C	KDM5C	c.1898A>G	NM_004187.3	NP_004178.2:p.(Tyr633Cys)	NC_000023.10:g.53230895T>C	(Likely) pathogenic	1 lab	799afd9954
22:37499565 TMPRSS6 G>A	22	37499565	37499565	G	A	TMPRSS6	c.15C>T	NM_153609.3	NP_705837.1:p.(Phe5=)	NC_000022.10:g.37499565G>A	(Likely) benign	1 lab	799fa7fd06
17:36058980 HNF1B C>T	17	36058980	36058980	C	T	HNF1B	c.1653+102G>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36058980C>T	(Likely) benign	1 lab	0be93d5df4
6:152763250 SYNE1 C>A	6	152763250	152763250	C	A	SYNE1				NC_000006.11:g.152763250C>A	VUS	1 lab	79a0147b16
10:89717615 PTEN C>T	10	89717615	89717615	C	T	PTEN	c.640C>T	NM_000314.8	NP_000305.3:p.(Gln214Ter)	NC_000010.10:g.89717615C>T	(Likely) pathogenic	1 lab	79a2375687
13:32931973 BRCA2 A>G	13	32931973	32931973	A	G	BRCA2	c.7712A>G	NM_000059.3	NP_000050.2:p.(Glu2571Gly)	NC_000013.10:g.32931973A>G	(Likely) benign	1 lab	79a3981e4b
10:88651947 BMPR1A A>G	10	88651947	88651947	A	G	BMPR1A	c.294A>G	NM_004329.2	NP_004320.2:p.(Ser98=)	NC_000010.10:g.88651947A>G	(Likely) benign	1 lab	79a6ebc9b0
5:112175466 APC C>A	5	112175466	112175466	C	A	APC	c.4175C>A	NM_000038.5	NP_000029.2:p.(Ser1392Ter)	NC_000005.9:g.112175466C>A	(Likely) pathogenic	1 lab	79a8d3a356
1:94505622 ABCA4 A>AAC	1	94505622	94505623	A	AAC	ABCA4	c.3583_3584insGT	NM_000350.2	NP_000341.2:p.(Leu1195ArgfsTer2)	NC_000001.10:g.94505622_94505623insAC	(Likely) pathogenic	1 lab	79a951f036
7:97481779 ASNS A>G	7	97481779	97481779	A	G	ASNS	c.1478T>C	NM_001673.5	NP_001664.3:p.(Val493Ala)	NC_000007.13:g.97481779A>G	VUS	1 lab	79b083a399
3:38802714 SCN10A A>G	3	38802714	38802714	A	G	SCN10A	c.852T>C	NM_006514.3	NP_006505.3:p.(Asn284=)	NC_000003.11:g.38802714A>G	(Likely) benign	1 lab	79b0d493a1
17:41215432 BRCA1 A>G	17	41215432	41215432	A	G	BRCA1	c.5153-42T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41215432A>G	(Likely) benign	1 lab	79b279e793
2:47643526 MSH2 G>A	2	47643526	47643526	G	A	MSH2	c.1034G>A	NM_000251.3	NP_000242.1:p.(Trp345Ter)	NC_000002.11:g.47643526G>A	(Likely) pathogenic	1 lab	79b4de83fa
13:32972453 BRCA2 G>A	13	32972453	32972453	G	A	BRCA2	c.9803G>A	NM_000059.3	NP_000050.2:p.(Arg3268Lys)	NC_000013.10:g.32972453G>A	VUS	1 lab	79b6627bea
19:13414639 CACNA1A G>A	19	13414639	13414639	G	A	CACNA1A	c.2049C>T	NM_023035.3	NP_075461.2:p.(Gly683=)	NC_000019.9:g.13414639G>A	(Likely) benign	1 lab	0bea7f7285
12:6230445 VWF C>T	12	6230445	6230445	C	T	VWF	c.115G>A	NM_000552.3	NP_000543.2:p.(Gly39Arg)	NC_000012.11:g.6230445C>T	(Likely) pathogenic	1 lab	79b8dbb06a
3:128627061 ACAD9 C>G	3	128627061	128627061	C	G	ACAD9	c.1312C>G	NM_014049.4	NP_054768.2:p.(Leu438Val)	NC_000003.11:g.128627061C>G	VUS	1 lab	79ba3c28c8
5:112164611 APC C>T	5	112164611	112164611	C	T	APC	c.1685C>T	NM_000038.5	NP_000029.2:p.(Thr562Met)	NC_000005.9:g.112164611C>T	VUS	1 lab	79c1d30341
2:166165879 SCN2A T>G	2	166165879	166165879	T	G	SCN2A	c.623T>G	NM_021007.2	NP_066287.2:p.(Val208Gly)	NC_000002.11:g.166165879T>G	(Likely) pathogenic	1 lab	79c6ae923f
14:64626077 SYNE2 C>A	14	64626077	64626077	C	A	SYNE2	c.16011C>A	NM_182914.2	NP_878918.2:p.(Leu5337=)	NC_000014.8:g.64626077C>A	(Likely) benign	1 lab	79cbafe2eb
15:77310809 PSTPIP1 A>T	15	77310809	77310809	A	T	PSTPIP1	c.122A>T	NM_001321136.2	NP_001308065.1:p.(Glu41Val)	NC_000015.9:g.77310809A>T	VUS	1 lab	036cdea24c
2:227979448 COL4A4 T>C	2	227979448	227979448	T	C	COL4A4	c.490-36A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227979448T>C	(Likely) benign	1 lab	79cd9cbdce
22:38511635 PLA2G6 G>A	22	38511635	38511635	G	A	PLA2G6	c.1933C>T	NM_003560.2	NP_003551.2:p.(Arg645Ter)	NC_000022.10:g.38511635G>A	(Likely) pathogenic	1 lab	79ce05df62
6:31903693 C2 C>T	6	31903693	31903693	C	T	C2	c.850-7C>T	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31903693C>T	VUS	1 lab	79cea5cdce
1:247588727 NLRP3 T>A	1	247588727	247588727	T	A	NLRP3	c.1976T>A	NM_001243133.2	NP_001230062.1:p.(Met659Lys)	NC_000001.10:g.247588727T>A	(Likely) pathogenic	1 lab	0bf037d289
11:5248030 HBB C>G	11	5248030	5248030	C	G	HBB	c.93-1G>C	NM_000518.4	NP_000509.1:p.?	NC_000011.9:g.5248030C>G	(Likely) pathogenic	1 lab	79d6e82fd6
2:112778998 MERTK G>T	2	112778998	112778998	G	T	MERTK	c.2190-1G>T	NM_006343.2	NP_006334.2:p.?	NC_000002.11:g.112778998G>T	(Likely) pathogenic	1 lab	79d6fa7155
12:111066562 TCTN1 T>A	12	111066562	111066562	T	A	TCTN1	c.473-10T>A	NM_024549.6	NP_078825.2:p.?	NC_000012.11:g.111066562T>A	(Likely) benign	1 lab	0bf0d41a23
6:29912280 HLA-A T>C	6	29912280	29912280	T	C	HLA-A	c.899T>C	NM_002116.8	NP_002107.3:p.(Leu300Pro)	NC_000006.11:g.29912280T>C	(Likely) benign	1 lab	03766b35dc
19:42474427 ATP1A3 C>T	19	42474427	42474427	C	T	ATP1A3				NC_000019.9:g.42474427C>T	(Likely) pathogenic	1 lab	79da1fb13e
1:1455662 ATAD3A G>A	1	1455662	1455662	G	A	ATAD3A	c.800G>A	NM_018188.3	NP_060658.3:p.(Arg267His)	NC_000001.10:g.1455662G>A	VUS	1 lab	79dd13427d
17:29687675 NF1 C>A	17	29687675	29687675	C	A	NF1	c.8268C>A	NM_000267.3	NP_000258.1:p.(Asn2756Lys)	NC_000017.10:g.29687675C>A	VUS	1 lab	037811ef66
2:202057799 CASP10 A>C	2	202057799	202057799	A	C	CASP10	c.534A>C	NM_032977.3	NP_116759.2:p.(Val178=)	NC_000002.11:g.202057799A>C	(Likely) benign	1 lab	0bf22a7cb8
17:10542245 MYH3 A>G	17	10542245	10542245	A	G	MYH3	c.3284T>C	NM_002470.3	NP_002461.2:p.(Val1095Ala)	NC_000017.10:g.10542245A>G	(Likely) pathogenic	1 lab	79e028b49b
21:38852962 DYRK1A G>A	21	38852962	38852962	G	A	DYRK1A	c.350G>A	NM_001396.4	NP_001387.2:p.(Arg117Gln)	NC_000021.8:g.38852962G>A	VUS	1 lab	79e047d24e
3:9845668 ARPC4 C>T	3	9845668	9845668	C	T	ARPC4	c.472C>T	NM_005718.5	NP_005709.1:p.(Arg158Cys)	NC_000003.11:g.9845668C>T	(Likely) pathogenic	1 lab	79e6a93b53
2:145158778 ZEB2 G>A	2	145158778	145158778	G	A	ZEB2	c.904C>T	NM_014795.3	NP_055610.1:p.(Arg302Ter)	NC_000002.11:g.145158778G>A	(Likely) pathogenic	1 lab	79e6c5651c
3:38760218 SCN10A G>A	3	38760218	38760218	G	A	SCN10A	c.3607C>T	NM_006514.3	NP_006505.3:p.(Leu1203Phe)	NC_000003.11:g.38760218G>A	VUS	1 lab	79e740b87e
5:36985864 NIPBL C>G	5	36985864	36985864	C	G	NIPBL	c.2582C>G	NM_133433.4	NP_597677.2:p.(Ser861Ter)	NC_000005.9:g.36985864C>G	(Likely) pathogenic	1 lab	79e964da73
5:149514496 PDGFRB G>A	5	149514496	149514496	G	A	PDGFRB	c.448C>T	NM_002609.4	NP_002600.1:p.(Arg150Ter)	NC_000005.9:g.149514496G>A	VUS	1 lab	79e98e5b9d
16:23646739 PALB2 A>C	16	23646739	23646739	A	C	PALB2	c.1128T>G	NM_024675.3	NP_078951.2:p.(Ser376Arg)	NC_000016.9:g.23646739A>C	(Likely) benign	1 lab	79ea1d757a
12:21605064 PYROXD1 A>G	12	21605064	21605064	A	G	PYROXD1	c.464A>G	NM_024854.5	NP_079130.2:p.(Asn155Ser)	NC_000012.11:g.21605064A>G	(Likely) pathogenic	1 lab	79ec7d675e
17:7579296 TP53 C>T	17	7579296	7579296	C	T	TP53	c.375+16G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7579296C>T	(Likely) benign	1 lab	79ee664330
13:23910278 SACS C>T	13	23910278	23910278	C	T	SACS	c.7737G>A	NM_014363.5	NP_055178.3:p.(Lys2579=)	NC_000013.10:g.23910278C>T	(Likely) benign	1 lab	79f0d70a2c
16:15851870 MYH11 C>T	16	15851870	15851870	C	T	MYH11	c.1423-13G>A	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15851870C>T	(Likely) benign	1 lab	79f12ef59f
2:203420159 BMPR2 C>T	2	203420159	203420159	C	T	BMPR2				NC_000002.11:g.203420159C>T	(Likely) pathogenic	1 lab	79f1a9481f
21:47686942 MCM3AP C>T	21	47686942	47686942	C	T	MCM3AP	c.2743G>A	NM_003906.4	NP_003897.2:p.(Glu915Lys)	NC_000021.8:g.47686942C>T	(Likely) pathogenic	1 lab	79f4cfd0cc
5:127624255 FBN2 AAAG>A	5	127624255	127624263	AAAG	A	FBN2	c.6638-9_6638-7del	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127624261_127624263del	(Likely) benign	1 lab	79fe13743e
18:44236995 LOXHD1 A>T	18	44236995	44236995	A	T	LOXHD1	c.2T>A	NM_144612.6	NP_653213.6:p.(Met1?)	NC_000018.9:g.44236995A>T	(Likely) benign	1 lab	7a00aa1180
1:228467999 OBSCN A>T	1	228467999	228467999	A	T	OBSCN	c.9070A>T	NM_001271223.2	NP_001258152.2:p.(Met3024Leu)	NC_000001.10:g.228467999A>T	(Likely) benign	1 lab	7a02c6a09c
18:19423140 MIB1 C>T	18	19423140	19423140	C	T	MIB1	c.2011C>T	NM_020774.3	NP_065825.1:p.(His671Tyr)	NC_000018.9:g.19423140C>T	VUS	1 lab	7a02dc43b1
7:75692916 MDH2 C>T	7	75692916	75692916	C	T	MDH2	c.633+6C>T	NM_005918.4	NP_005909.2:p.?	NC_000007.13:g.75692916C>T	(Likely) benign	1 lab	7a0343010c
9:139395095 NOTCH1 A>G	9	139395095	139395095	A	G	NOTCH1	c.5843T>C	NM_017617.3	NP_060087.3:p.(Leu1948Pro)	NC_000009.11:g.139395095A>G	VUS	1 lab	7a03b3e712
4:55602710 KIT G>A	4	55602710	55602710	G	A	KIT	c.2531G>A	NM_000222.3	NP_000213.1:p.(Cys844Tyr)	NC_000004.11:g.55602710G>A	VUS	1 lab	7a07c15a6e
15:77329473 PSTPIP1 G>A	15	77329473	77329473	G	A	PSTPIP1	c.1207G>A	NM_003978.5	NP_003969.2:p.(Gly403Arg)	NC_000015.9:g.77329473G>A	VUS	1 lab	7a0a475f53
7:128482915 FLNC C>T	7	128482915	128482915	C	T	FLNC	c.2457C>T	NM_001458.4	NP_001449.3:p.(Phe819=)	NC_000007.13:g.128482915C>T	(Likely) benign	1 lab	7a0b12e673
X:17745078 NHS T>G	X	17745078	17745078	T	G	NHS	c.2789T>G	NM_198270.3	NP_938011.1:p.(Leu930Arg)	NC_000023.10:g.17745078T>G	VUS	1 lab	7a0cea2e75
19:1220757 STK11 T>C	19	1220757	1220757	T	C	STK11	c.734+41T>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220757T>C	(Likely) benign	1 lab	7e2677cae3
9:123800218 C5 C>T	9	123800218	123800218	C	T	C5	c.433G>A	NM_001735.2	NP_001726.2:p.(Val145Ile)	NC_000009.11:g.123800218C>T	(Likely) benign	1 lab	7a10f2966f
16:8941612 PMM2 C>G	16	8941612	8941612	C	G	PMM2	c.671C>G	NM_000303.2	NP_000294.1:p.(Pro224Arg)	NC_000016.9:g.8941612C>G	VUS	1 lab	7a1959dbbf
18:43437982 EPG5 C>CT	18	43437982	43437983	C	CT	EPG5	c.7277dup	NM_020964.3	NP_066015.2:p.(Leu2427AlafsTer10)	NC_000018.9:g.43437983dup	(Likely) pathogenic	1 lab	03786436dd
X:19021212 ADGRG2 G>C	X	19021212	19021212	G	C	ADGRG2	c.1982C>G	NM_001079858.3	NP_001073327.1:p.(Pro661Arg)	NC_000023.10:g.19021212G>C	VUS	1 lab	7a1b49a39a
17:40947403 WNK4 G>A	17	40947403	40947403	G	A	WNK4	c.2961+3G>A	NM_032387.5	NP_115763.2:p.?	NC_000017.10:g.40947403G>A	(Likely) benign	1 lab	037a9181a6
14:23869665 MYH6 CA>C	14	23869665	23869666	CA	C	MYH6	c.1411-31del	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23869666del	(Likely) benign	1 lab	7a21b7c190
X:53459274 HSD17B10 C>T	X	53459274	53459274	C	T	HSD17B10	c.278G>A	NM_004493.3	NP_004484.1:p.(Gly93Asp)	NC_000023.10:g.53459274C>T	VUS	1 lab	7a22becf05
X:12906030 TLR7 G>A	X	12906030	12906030	G	A	TLR7	c.2403G>A	NM_016562.3	NP_057646.1:p.(Thr801=)	NC_000023.10:g.12906030G>A	(Likely) benign	1 lab	7a24cc905e
6:146755144 GRM1 C>G	6	146755144	146755144	C	G	GRM1	c.2797C>G	NM_001278064.1	NP_001264993.1:p.(Leu933Val)	NC_000006.11:g.146755144C>G	(Likely) pathogenic	1 lab	7a290f8eac
12:8759519 AICDA A>T	12	8759519	8759519	A	T	AICDA	c.98T>A	NM_020661.4	NP_065712.1:p.(Val33Glu)	NC_000012.11:g.8759519A>T	(Likely) pathogenic	1 lab	7a2fca5f8b
8:42166458 IKBKB G>A	8	42166458	42166458	G	A	IKBKB	c.607G>A	NM_001556.2	NP_001547.1:p.(Val203Ile)	NC_000008.10:g.42166458G>A	(Likely) pathogenic	1 lab	7a314a58a5
22:29099587 CHEK2 T>C	22	29099587	29099587	T	C	CHEK2	c.847-33A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29099587T>C	VUS	1 lab	7a324417cc
1:196799627 CFHR1 T>C	1	196799627	196799627	T	C	CFHR1	c.608-3T>C	NM_002113.2	NP_002104.2:p.?	NC_000001.10:g.196799627T>C	VUS	1 lab	7a3310367c
10:27425300 YME1L1 G>A	10	27425300	27425300	G	A	YME1L1	c.616C>T	NM_139312.2	NP_647473.1:p.(Arg206Trp)	NC_000010.10:g.27425300G>A	(Likely) pathogenic	1 lab	7a335e35ec
14:23852540 MYH6 G>A	14	23852540	23852540	G	A	MYH6	c.5566-11C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852540G>A	(Likely) benign	1 lab	7a33baf57b
15:72283487 MYO9A C>T	15	72283487	72283487	C	T	MYO9A	c.1679G>A	NM_006901.4	NP_008832.2:p.(Arg560His)	NC_000015.9:g.72283487C>T	VUS	1 lab	7a350b90dd
17:4836381 GP1BA C>T	17	4836381	4836381	C	T	GP1BA	c.482C>T	NM_000173.5	NP_000164.5:p.(Thr161Met)	NC_000017.10:g.4836381C>T	(Likely) benign	1 lab	7a3740303b
20:34773062 EPB41L1 G>A	20	34773062	34773062	G	A	EPB41L1	c.590G>A	NM_012156.2	NP_036288.2:p.(Arg197Gln)	NC_000020.10:g.34773062G>A	(Likely) benign	1 lab	7a390c3cc6
1:112525340 KCND3 G>A	1	112525340	112525340	G	A	KCND3	c.9C>T	NM_004980.4	NP_004971.2:p.(Ala3=)	NC_000001.10:g.112525340G>A	(Likely) benign	1 lab	7a3a84d6fc
14:51096652 ATL1 T>A	14	51096652	51096652	T	A	ATL1	c.1552-61T>A	NM_015915.4	NP_056999.2:p.?	NC_000014.8:g.51096652T>A	(Likely) benign	1 lab	7a3acf92cb
3:127783720 SEC61A1 G>A	3	127783720	127783720	G	A	SEC61A1				NC_000003.11:g.127783720G>A	VUS	1 lab	7a3eead288
11:103107146 DYNC2H1 T>G	11	103107146	103107146	T	G	DYNC2H1	c.9710-13T>G	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103107146T>G	VUS	1 lab	7a407d2595
22:36688106 MYH9 C>T	22	36688106	36688106	C	T	MYH9	c.4270G>A	NM_002473.4	NP_002464.1:p.(Asp1424Asn)	NC_000022.10:g.36688106C>T	(Likely) pathogenic	1 lab	7a4096ca44
5:172660078 NKX2-5 A>G	5	172660078	172660078	A	G	NKX2-5	c.469T>C	NM_004387.3	NP_004378.1:p.(Phe157Leu)	NC_000005.9:g.172660078A>G	(Likely) pathogenic	1 lab	7a41a1ac53
18:29055967 DSG3 C>G	18	29055967	29055967	C	G	DSG3	c.2744C>G	NM_001944.3	NP_001935.2:p.(Ser915Cys)	NC_000018.9:g.29055967C>G	VUS	1 lab	037ad90ad5
2:165946681 SCN3A C>T	2	165946681	165946681	C	T	SCN3A	c.5982G>A	NM_006922.3	NP_008853.3:p.(Glu1994=)	NC_000002.11:g.165946681C>T	(Likely) benign	1 lab	7a4497d9f1
20:33577869 MYH7B A>G	20	33577869	33577869	A	G	MYH7B	c.1946A>G	NM_020884.4	NP_065935.3:p.(Glu649Gly)	NC_000020.10:g.33577869A>G	(Likely) benign	1 lab	7a46f56525
X:129290482 AIFM1 C>T	X	129290482	129290482	C	T	AIFM1	c.202G>A	NM_004208.4	NP_004199.1:p.(Val68Met)	NC_000023.10:g.129290482C>T	VUS	1 lab	7a48603e82
10:89624106 PTEN A>G	10	89624106	89624106	A	G	PTEN	c.-121A>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624106A>G	(Likely) benign	1 lab	7a4b35069d
1:147230976 GJA5 TCG>T	1	147230976	147230978	TCG	T	GJA5	c.369_370del	NM_181703.4	NP_859054.1:p.(Tyr123Ter)	NC_000001.10:g.147230977_147230978del	VUS	1 lab	7a4b622f58
11:78204109 MISSING C>G	11	78204109	78204109	C	G	MISSING				NC_000011.9:g.78204109C>G	(Likely) pathogenic	1 lab	7a4eb57514
12:6219651 VWF C>T	12	6219651	6219651	C	T	VWF	c.421G>A	NM_000552.3	NP_000543.2:p.(Asp141Asn)	NC_000012.11:g.6219651C>T	(Likely) pathogenic	1 lab	7a50780ad1
4:187130306 KLKB1 G>T	4	187130306	187130306	G	T	KLKB1				NC_000004.11:g.187130306G>T	VUS	1 lab	7a54687ada
X:153171090 AVPR2 C>T	X	153171090	153171090	C	T	AVPR2	c.130C>T	NM_000054.4	NP_000045.1:p.(Leu44Phe)	NC_000023.10:g.153171090C>T	(Likely) pathogenic	1 lab	7a5547ed8d
2:50149378 NRXN1 G>C	2	50149378	50149378	G	C	NRXN1	c.4348C>G	NM_001135659.3	NP_001129131.1:p.(Arg1450Gly)	NC_000002.11:g.50149378G>C	VUS	1 lab	0381d5d7a4
7:128477421 FLNC C>T	7	128477421	128477421	C	T	FLNC	c.700-31C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477421C>T	(Likely) benign	1 lab	7a581cb547
3:37059049 MLH1 A>C	3	37059049	37059049	A	C	MLH1	c.843A>C	NM_000249.3	NP_000240.1:p.(Ala281=)	NC_000003.11:g.37059049A>C	(Likely) benign	1 lab	7a59bace68
17:41209094 BRCA1 C>T	17	41209094	41209094	C	T	BRCA1	c.5252G>A	NM_007294.3	NP_009225.1:p.(Arg1751Gln)	NC_000017.10:g.41209094C>T	(Likely) benign	1 lab	7a5cf34aaf
1:112329672 KCND3 G>A	1	112329672	112329672	G	A	KCND3	c.1163C>T	NM_004980.4	NP_004971.2:p.(Ser388Phe)	NC_000001.10:g.112329672G>A	(Likely) pathogenic	1 lab	7a5d754633
17:39921270 JUP C>T	17	39921270	39921270	C	T	JUP	c.959G>A	NM_002230.3	NP_002221.1:p.(Arg320His)	NC_000017.10:g.39921270C>T	(Likely) benign	1 lab	7a5e3b986b
2:3598048 RNASEH1 C>T	2	3598048	3598048	C	T	RNASEH1	c.424G>A	NM_002936.6	NP_002927.2:p.(Val142Ile)	NC_000002.11:g.3598048C>T	(Likely) pathogenic	1 lab	7a5f1eea6b
X:31200847 DMD C>T	X	31200847	31200847	C	T	DMD	c.9974+8G>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31200847C>T	(Likely) benign	1 lab	7a64c0e34e
3:129207209 IFT122 TAGA>T	3	129207209	129207214	TAGA	T	IFT122	c.2117_2119del	NM_052985.3	NP_443711.2:p.(Glu706del)	NC_000003.11:g.129207212_129207214del	VUS	1 lab	7a654bb7c4
16:75513309 CHST6 G>A	16	75513309	75513309	G	A	CHST6	c.418C>T	NM_021615.4	NP_067628.1:p.(Arg140Ter)	NC_000016.9:g.75513309G>A	(Likely) pathogenic	1 lab	7a6579149c
22:30032866 NF2 G>A	22	30032866	30032866	G	A	NF2	c.240+1G>A	NM_000268.3	NP_000259.1:p.?	NC_000022.10:g.30032866G>A	(Likely) pathogenic	1 lab	7a65bdd731
20:31023408 ASXL1 C>T	20	31023408	31023408	C	T	ASXL1	c.2893C>T	NM_015338.5	NP_056153.2:p.(Arg965Ter)	NC_000020.10:g.31023408C>T	(Likely) pathogenic	1 lab	7a6a190129
2:47630213 MSH2 T>C	2	47630213	47630213	T	C	MSH2	c.-118T>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47630213T>C	(Likely) benign	1 lab	7a6f67d1e2
4:79409899 FRAS1 T>C	4	79409899	79409899	T	C	FRAS1	c.8753-130T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79409899T>C	(Likely) benign	1 lab	0d6526e65c
13:113773132 F7 G>A	13	113773132	113773132	G	A	F7	c.1211G>A	NM_000131.4	NP_000122.1:p.(Ser404Asn)	NC_000013.10:g.113773132G>A	(Likely) pathogenic	1 lab	7a721e53a1
1:209805963 LAMB3 GC>G	1	209805963	209805964	GC	G	LAMB3	c.786del	NM_000228.3	NP_000219.2:p.(Lys262AsnfsTer134)	NC_000001.10:g.209805964del	(Likely) pathogenic	1 lab	0382b62ddf
11:121000902 TECTA C>T	11	121000902	121000902	C	T	TECTA				NC_000011.9:g.121000902C>T	(Likely) benign	1 lab	7a7762a135
14:23888322 MYH7 A>ATT	14	23888322	23888325	A	ATT	MYH7	c.3972+62_3972+63dup	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23888324_23888325dup	(Likely) benign	1 lab	7a7816daeb
1:245027537 HNRNPU G>A	1	245027537	245027537	G	A	HNRNPU	c.73C>T	NM_031844.3	NP_114032.2:p.(Leu25Phe)	NC_000001.10:g.245027537G>A	(Likely) pathogenic	1 lab	03830b0b83
11:17580050 OTOG A>C	11	17580050	17580050	A	C	OTOG				NC_000011.9:g.17580050A>C	(Likely) benign	1 lab	7ecb4bfe55
16:67693688 ACD CCTT>C	16	67693688	67693693	CCTT	C	ACD	c.250_252del	NM_001082486.2	NP_001075955.2:p.(Lys84del)	NC_000016.9:g.67693691_67693693del	(Likely) pathogenic	1 lab	7a7b580fcf
3:121976214 CASR G>C	3	121976214	121976214	G	C	CASR	c.472G>C	NM_000388.3	NP_000379.2:p.(Gly158Arg)	NC_000003.11:g.121976214G>C	VUS	1 lab	7a7e13ae78
4:187115722 CYP4V2 G>A	4	187115722	187115722	G	A	CYP4V2	c.283G>A	NM_207352.4	NP_997235.3:p.(Gly95Arg)	NC_000004.11:g.187115722G>A	(Likely) pathogenic	1 lab	7a7eeb80f6
11:108160361 ATM T>C	11	108160361	108160361	T	C	ATM	c.4269T>C	NM_000051.4	NP_000042.3:p.(Cys1423=)	NC_000011.9:g.108160361T>C	(Likely) benign	1 lab	7a7f85247a
1:156106863 LMNA C>T	1	156106863	156106863	C	T	LMNA	c.1489-41C>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156106863C>T	(Likely) benign	1 lab	7a80e1097b
13:32899315 BRCA2 G>C	13	32899315	32899315	G	C	BRCA2	c.419G>C	NM_000059.3	NP_000050.2:p.(Ser140Thr)	NC_000013.10:g.32899315G>C	(Likely) benign	1 lab	7a82613a83
22:32161020 DEPDC5 G>A	22	32161020	32161020	G	A	DEPDC5	c.253G>A	NM_001242896.3	NP_001229825.1:p.(Val85Ile)	NC_000022.10:g.32161020G>A	VUS	1 lab	7a85cfce51
2:166911226 SCN1A G>C	2	166911226	166911226	G	C	SCN1A	c.524C>G	NM_001165963.1	NP_001159435.1:p.(Ala175Gly)	NC_000002.11:g.166911226G>C	VUS	1 lab	7a87184976
19:13323497 CACNA1A C>T	19	13323497	13323497	C	T	CACNA1A	c.6001G>A	NM_001127221.1	NP_001120693.1:p.(Gly2001Arg)	NC_000019.9:g.13323497C>T	(Likely) benign	1 lab	7a87c05dd7
2:167266312 SCN7A G>A	2	167266312	167266312	G	A	SCN7A	c.3845C>T	NM_002976.4	NP_002967.2:p.(Ala1282Val)	NC_000002.11:g.167266312G>A	(Likely) benign	1 lab	7a87cad453
17:36070600 HNF1B C>T	17	36070600	36070600	C	T	HNF1B	c.1117G>A	NM_000458.2	NP_000449.1:p.(Ala373Thr)	NC_000017.10:g.36070600C>T	(Likely) benign	1 lab	7a88753ae4
16:4943590 PPL G>A	16	4943590	4943590	G	A	PPL	c.1444C>T	NM_002705.5	NP_002696.4:p.(Arg482Cys)	NC_000016.9:g.4943590G>A	(Likely) benign	1 lab	0389bdb9cc
8:145700309 FOXH1 C>T	8	145700309	145700309	C	T	FOXH1	c.410G>A	NM_003923.3	NP_003914.1:p.(Arg137His)	NC_000008.10:g.145700309C>T	(Likely) benign	1 lab	0bf9f8f516
1:94473295 ABCA4 C>T	1	94473295	94473295	C	T	ABCA4	c.5900G>A	NM_000350.2	NP_000341.2:p.(Cys1967Tyr)	NC_000001.10:g.94473295C>T	VUS	1 lab	7a8d5d2eb4
13:100915008 PCCA G>A	13	100915008	100915008	G	A	PCCA	c.742G>A	NM_000282.3	NP_000273.2:p.(Glu248Lys)	NC_000013.10:g.100915008G>A	VUS	1 lab	7a90dae8bb
2:225360614 CUL3 G>A	2	225360614	225360614	G	A	CUL3				NC_000002.11:g.225360614G>A	(Likely) pathogenic	1 lab	7a969bd2fc
5:112175930 APC G>T	5	112175930	112175930	G	T	APC	c.4639G>T	NM_000038.5	NP_000029.2:p.(Glu1547Ter)	NC_000005.9:g.112175930G>T	(Likely) pathogenic	1 lab	7a99a0d785
2:48010539 MSH6 G>A	2	48010539	48010539	G	A	MSH6	c.167G>A	NM_000179.2	NP_000170.1:p.(Gly56Glu)	NC_000002.11:g.48010539G>A	(Likely) benign	1 lab	7a9b625c09
X:136649691 ZIC3 CAT>C	X	136649691	136649693	CAT	C	ZIC3	c.842_843del	NM_003413.3	NP_003404.1:p.(His281ArgfsTer62)	NC_000023.10:g.136649692_136649693del	(Likely) pathogenic	1 lab	7a9b771022
1:196879536 CFHR4 A>T	1	196879536	196879536	A	T	CFHR4	c.925A>T	NM_001201550.3	NP_001188479.1:p.(Thr309Ser)	NC_000001.10:g.196879536A>T	(Likely) benign	1 lab	7a9fab4d77
2:209191082 PIKFYVE C>A	2	209191082	209191082	C	A	PIKFYVE	c.3547C>A	NM_015040.4	NP_055855.2:p.(Gln1183Lys)	NC_000002.11:g.209191082C>A	(Likely) benign	1 lab	0391ec4cd2
1:91966445 MISSING A>G	1	91966445	91966445	A	G	MISSING				NC_000001.10:g.91966445A>G	(Likely) benign	1 lab	7aa14afe41
17:41234420 BRCA1 C>A	17	41234420	41234420	C	A	BRCA1	c.4357+1G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41234420C>A	(Likely) pathogenic	1 lab	7aa2f0737e
10:95394654 PDE6C A>G	10	95394654	95394654	A	G	PDE6C	c.1259A>G	NM_006204.3	NP_006195.3:p.(Tyr420Cys)	NC_000010.10:g.95394654A>G	VUS	1 lab	7aa9e50938
12:110232160 TRPV4 C>T	12	110232160	110232160	C	T	TRPV4	c.1465G>A	NM_021625.4	NP_067638.3:p.(Ala489Thr)	NC_000012.11:g.110232160C>T	VUS	1 lab	7aab369cf9
3:100976574 IMPG2 T>C	3	100976574	100976574	T	C	IMPG2	c.952A>G	NM_016247.3	NP_057331.2:p.(Ile318Val)	NC_000003.11:g.100976574T>C	VUS	1 lab	7aae5e37da
5:112116486 APC G>T	5	112116486	112116486	G	T	APC	c.532-1G>T	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112116486G>T	(Likely) pathogenic	1 lab	7aaedbe935
X:23398214 PTCHD1 T>C	X	23398214	23398214	T	C	PTCHD1	c.858T>C	NM_173495.2	NP_775766.2:p.(Cys286=)	NC_000023.10:g.23398214T>C	(Likely) benign	1 lab	7ab0d3ca9d
3:169482335 TERC T>C	3	169482335	169482335	T	C	TERC				NC_000003.11:g.169482335T>C	(Likely) benign	1 lab	8d41de0477
15:66735610 MAP2K1 G>A	15	66735610	66735610	G	A	MAP2K1	c.439-8G>A	NM_002755.3	NP_002746.1:p.?	NC_000015.9:g.66735610G>A	(Likely) benign	1 lab	7ab140ae7d
1:164781251 PBX1 C>T	1	164781251	164781251	C	T	PBX1	c.862C>T	NM_002585.3	NP_002576.1:p.(Arg288Ter)	NC_000001.10:g.164781251C>T	VUS	1 lab	7ab20f21fb
11:108180841 ATM T>C	11	108180841	108180841	T	C	ATM	c.5763-46T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108180841T>C	(Likely) benign	1 lab	7ab2c8cc3d
X:53565804 MISSING C>T	X	53565804	53565804	C	T	MISSING				NC_000023.10:g.53565804C>T	(Likely) pathogenic	1 lab	7ab48272c3
1:43393295 SLC2A1 A>C	1	43393295	43393295	A	C	SLC2A1				NC_000001.10:g.43393295A>C	(Likely) pathogenic	1 lab	7ab5386c15
2:179470305 TTN T>C	2	179470305	179470305	T	C	TTN	c.53717A>G	NM_001267550.2	NP_001254479.2:p.(Lys17906Arg)	NC_000002.11:g.179470305T>C	(Likely) benign	1 lab	7ab7065dd3
7:91713010 AKAP9 GT>G	7	91713010	91713016	GT	G	AKAP9	c.8646+47del	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91713016del	(Likely) benign	1 lab	7ab779ec37
11:103107188 DYNC2H1 G>A	11	103107188	103107188	G	A	DYNC2H1				NC_000011.9:g.103107188G>A	VUS	1 lab	7ab95d5d66
9:135773000 TSC1 G>T	9	135773000	135773000	G	T	TSC1	c.2626-3C>A	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135773000G>T	VUS	1 lab	039ca616f3
19:38937198 RYR1 C>T	19	38937198	38937198	C	T	RYR1	c.718C>T	NM_000540.2	NP_000531.2:p.(Gln240Ter)	NC_000019.9:g.38937198C>T	(Likely) pathogenic	1 lab	7abc11bedd
7:94248111 SGCE CCT>C	7	94248111	94248113	CCT	C	SGCE	c.619_620del	NM_001099401.2	NP_001092871.1:p.(Arg207GlyfsTer9)	NC_000007.13:g.94248112_94248113del	(Likely) pathogenic	1 lab	7abe9422f5
1:145508944 RBM8A A>T	1	145508944	145508944	A	T	RBM8A	c.371A>T	NM_005105.5	NP_005096.1:p.(Tyr124Phe)	NC_000001.10:g.145508944A>T	VUS	1 lab	039d12cb26
5:90008219 ADGRV1 G>T	5	90008219	90008219	G	T	ADGRV1	c.9158G>T	NM_032119.4	NP_115495.3:p.(Gly3053Val)	NC_000005.9:g.90008219G>T	VUS	1 lab	039e307d27
3:121976254 CASR C>T	3	121976254	121976254	C	T	CASR	c.492+20C>T	NM_000388.4	NP_000379.3:p.?	NC_000003.11:g.121976254C>T	VUS	1 lab	7ac846f07d
16:56899181 SLC12A3 G>GA	16	56899181	56899182	G	GA	SLC12A3	c.35dup	NM_000339.3	NP_000330.3:p.(Asp12GlufsTer18)	NC_000016.9:g.56899182dup	(Likely) pathogenic	1 lab	0bfaf2240d
X:50378237 SHROOM4 C>A	X	50378237	50378237	C	A	SHROOM4	c.836G>T	NM_020717.4	NP_065768.2:p.(Arg279Met)	NC_000023.10:g.50378237C>A	VUS	1 lab	03a02c7218
14:102963298 TECPR2 G>C	14	102963298	102963298	G	C	TECPR2	c.3790-18G>C	NM_014844.5	NP_055659.2:p.?	NC_000014.8:g.102963298G>C	(Likely) benign	1 lab	0bfc928e37
17:4802329 CHRNE G>A	17	4802329	4802329	G	A	CHRNE	c.1293C>T	NM_000080.3	NP_000071.1:p.(Ala431=)	NC_000017.10:g.4802329G>A	(Likely) benign	1 lab	7ad3575774
2:73716841 ALMS1 ATG>A	2	73716841	73716844	ATG	A	ALMS1	c.7757_7758del	NM_001378454.1	NP_001365383.1:p.(Cys2586PhefsTer7)	NC_000002.11:g.73716843_73716844del	(Likely) pathogenic	1 lab	0bfcb19f3d
2:169828536 ABCB11 G>A	2	169828536	169828536	G	A	ABCB11	c.1459C>T	NM_003742.4	NP_003733.2:p.(Arg487Cys)	NC_000002.11:g.169828536G>A	(Likely) pathogenic	1 lab	03a3375cff
12:66849351 GRIP1 G>C	12	66849351	66849351	G	C	GRIP1	c.1043-7C>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66849351G>C	(Likely) benign	1 lab	8e19b68df6
17:42988643 GFAP A>G	17	42988643	42988643	A	G	GFAP				NC_000017.10:g.42988643A>G	VUS	1 lab	7adc1675f5
4:114290874 ANK2 G>A	4	114290874	114290874	G	A	ANK2	c.11523G>A	NM_001148.4	NP_001139.3:p.(Pro3841=)	NC_000004.11:g.114290874G>A	(Likely) benign	1 lab	7add9c7342
16:1652528 IFT140 G>A	16	1652528	1652528	G	A	IFT140	c.212C>T	NM_014714.3	NP_055529.2:p.(Pro71Leu)	NC_000016.9:g.1652528G>A	(Likely) pathogenic	1 lab	7adf73793e
10:112724477 SHOC2 G>A	10	112724477	112724477	G	A	SHOC2	c.361G>A	NM_007373.4	NP_031399.2:p.(Glu121Lys)	NC_000010.10:g.112724477G>A	(Likely) pathogenic	1 lab	7ae008484b
13:32937350 BRCA2 G>T	13	32937350	32937350	G	T	BRCA2	c.8011G>T	NM_000059.3	NP_000050.2:p.(Ala2671Ser)	NC_000013.10:g.32937350G>T	(Likely) benign	1 lab	7ae143d77a
1:216064785 USH2A G>A	1	216064785	216064785	G	A	USH2A	c.7595-2389C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216064785G>A	(Likely) benign	1 lab	7ae28062d2
16:31471283 ARMC5 G>A	16	31471283	31471283	G	A	ARMC5	c.438G>A	NM_001105247.2	NP_001098717.1:p.(Arg146=)	NC_000016.9:g.31471283G>A	(Likely) benign	1 lab	7aff9de587
22:40704591 TNRC6B G>A	22	40704591	40704591	G	A	TNRC6B	c.4196G>A	NM_001162501.2	NP_001155973.1:p.(Trp1399Ter)	NC_000022.10:g.40704591G>A	(Likely) pathogenic	1 lab	7ae3afb338
10:73560497 CDH23 C>T	10	73560497	73560497	C	T	CDH23	c.7467C>T	NM_022124.5	NP_071407.4:p.(Arg2489=)	NC_000010.10:g.73560497C>T	(Likely) benign	1 lab	7ae4ecb351
5:112154934 APC GT>G	5	112154934	112154935	GT	G	APC	c.1206del	NM_000038.6	NP_000029.2:p.(Glu403LysfsTer51)	NC_000005.9:g.112154935del	(Likely) pathogenic	1 lab	7ae5034b33
11:47369943 MYBPC3 C>T	11	47369943	47369943	C	T	MYBPC3	c.772+32G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369943C>T	VUS	1 lab	7ae60e4e69
16:9017253 USP7 C>G	16	9017253	9017253	C	G	USP7	c.202G>C	NM_003470.2	NP_003461.2:p.(Glu68Gln)	NC_000016.9:g.9017253C>G	(Likely) pathogenic	1 lab	7ae974c8c0
1:11210190 MTOR C>A	1	11210190	11210190	C	A	MTOR	c.4563G>T	NM_004958.4	NP_004949.1:p.(Trp1521Cys)	NC_000001.10:g.11210190C>A	VUS	1 lab	03a36350e7
7:151254132 PRKAG2 C>A	7	151254132	151254132	C	A	PRKAG2	c.*155G>T	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151254132C>A	(Likely) benign	1 lab	7aed35520a
19:42490329 ATP1A3 G>T	19	42490329	42490329	G	T	ATP1A3	c.410C>A	NM_152296.4	NP_689509.1:p.(Ser137Tyr)	NC_000019.9:g.42490329G>T	(Likely) pathogenic	1 lab	7aee8ad9d4
9:73483901 TRPM3 C>G	9	73483901	73483901	C	G	TRPM3	c.-283+1G>C	NM_020952.6	NP_066003.3:p.?	NC_000009.11:g.73483901C>G	VUS	1 lab	03a37be395
5:112116485 APC A>C	5	112116485	112116485	A	C	APC	c.532-2A>C	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112116485A>C	(Likely) pathogenic	1 lab	7af135644b
4:42895423 GRXCR1 C>T	4	42895423	42895423	C	T	GRXCR1	c.140C>T	NM_001080476.3	NP_001073945.1:p.(Ala47Val)	NC_000004.11:g.42895423C>T	(Likely) benign	1 lab	03a3fdcdd8
12:6125330 VWF T>C	12	6125330	6125330	T	C	VWF	c.5380A>G	NM_000552.3	NP_000543.2:p.(Lys1794Glu)	NC_000012.11:g.6125330T>C	(Likely) pathogenic	1 lab	7af777efef
X:605130 SHOX AG>A	X	605130	605132	AG	A	SHOX	c.640del	NM_000451.4	NP_000442.1:p.(Ala214LeufsTer26)	NC_000023.10:g.605132del	(Likely) pathogenic	1 lab	7afb426708
2:167129240 SCN9A C>T	2	167129240	167129240	C	T	SCN9A	c.3020G>A	NM_001365536.1	NP_001352465.1:p.(Arg1007His)	NC_000002.11:g.167129240C>T	(Likely) benign	1 lab	7b0383de6e
1:94486895 ABCA4 C>T	1	94486895	94486895	C	T	ABCA4	c.4919G>A	NM_000350.2	NP_000341.2:p.(Arg1640Gln)	NC_000001.10:g.94486895C>T	(Likely) pathogenic	1 lab	7b0412db5a
13:52549009 ATP7B A>G	13	52549009	52549009	A	G	ATP7B	c.347T>C	NM_000053.4	NP_000044.2:p.(Ile116Thr)	NC_000013.10:g.52549009A>G	VUS	1 lab	7b060d8501
16:31202310 FUS G>C	16	31202310	31202310	G	C	FUS	c.1420G>C	NM_004960.3	NP_004951.1:p.(Gly474Arg)	NC_000016.9:g.31202310G>C	VUS	1 lab	7b09a53631
19:39013851 RYR1 C>G	19	39013851	39013851	C	G	RYR1	c.10348-6C>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.39013851C>G	(Likely) pathogenic	1 lab	7b0a05e5e3
11:121466463 SORL1 C>T	11	121466463	121466463	C	T	SORL1	c.4501C>T	NM_003105.6	NP_003096.2:p.(Arg1501Trp)	NC_000011.9:g.121466463C>T	VUS	1 lab	03a75a5861
1:22174426 HSPG2 T>G	1	22174426	22174426	T	G	HSPG2	c.7873+25A>C	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22174426T>G	(Likely) benign	1 lab	03a8123348
2:228147080 COL4A3 G>A	2	228147080	228147080	G	A	COL4A3	c.2489-1G>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228147080G>A	(Likely) pathogenic	1 lab	7b12dcf499
22:29099499 CHEK2 A>C	22	29099499	29099499	A	C	CHEK2	c.902T>G	NM_007194.3	NP_009125.1:p.(Leu301Trp)	NC_000022.10:g.29099499A>C	VUS	1 lab	7b1bff9eae
1:169495234 F5 A>G	1	169495234	169495234	A	G	F5	c.5621T>C	NM_000130.5	NP_000121.2:p.(Met1874Thr)	NC_000001.10:g.169495234A>G	VUS	1 lab	03ac8c2581
1:114442873 AP4B1 G>A	1	114442873	114442873	G	A	AP4B1	c.767C>T	NM_006594.4	NP_006585.2:p.(Thr256Ile)	NC_000001.10:g.114442873G>A	VUS	1 lab	7b1c5f133c
11:108199793 ATM C>G	11	108199793	108199793	C	G	ATM	c.7135C>G	NM_000051.3	NP_000042.3:p.(Leu2379Val)	NC_000011.9:g.108199793C>G	(Likely) pathogenic	1 lab	7b1d9f876f
17:41243969 BRCA1 G>A	17	41243969	41243969	G	A	BRCA1	c.3579C>T	NM_007294.4	NP_009225.1:p.(Phe1193=)	NC_000017.10:g.41243969G>A	(Likely) benign	1 lab	7b202c7d80
7:95216394 PDK4 T>G	7	95216394	95216394	T	G	PDK4	c.1023A>C	NM_002612.3	NP_002603.1:p.(Ala341=)	NC_000007.13:g.95216394T>G	(Likely) benign	1 lab	7b21c2628d
16:2034233 GFER G>C	16	2034233	2034233	G	C	GFER	c.14G>C	NM_005262.3	NP_005253.3:p.(Gly5Ala)	NC_000016.9:g.2034233G>C	VUS	1 lab	03b16d41bd
12:2797688 CACNA1C A>C	12	2797688	2797688	A	C	CACNA1C	c.5860A>C	NM_000719.6	NP_000710.5:p.(Thr1954Pro)	NC_000012.11:g.2797688A>C	(Likely) benign	1 lab	7b28003295
6:66005857 EYS T>A	6	66005857	66005857	T	A	EYS	c.1922A>T	NM_001142800.1	NP_001136272.1:p.(Glu641Val)	NC_000006.11:g.66005857T>A	(Likely) benign	1 lab	7b29f2670e
11:124766843 ROBO4 G>A	11	124766843	124766843	G	A	ROBO4	c.385C>T	NM_019055.6	NP_061928.4:p.(Arg129Trp)	NC_000011.9:g.124766843G>A	(Likely) benign	1 lab	0c0f782385
7:42079686 GLI3 T>TGCTAC	7	42079686	42079692	T	TGCTAC	GLI3	c.974_978dup	NM_000168.6	NP_000159.3:p.(Ser327ValfsTer22)	NC_000007.13:g.42079688_42079692dup	(Likely) pathogenic	1 lab	7b2e16e0be
14:64657695 SYNE2 C>T	14	64657695	64657695	C	T	SYNE2	c.18038+740C>T	NM_015180.4	NP_055995.4:p.?	NC_000014.8:g.64657695C>T	(Likely) benign	1 lab	7b2e1a14aa
13:113773132 F7 G>C	13	113773132	113773132	G	C	F7	c.1145G>C	NM_019616.4	NP_062562.1:p.(Ser382Thr)	NC_000013.10:g.113773132G>C	(Likely) pathogenic	1 lab	7b2e3fb006
18:21487844 LAMA3 T>A	18	21487844	21487844	T	A	LAMA3	c.6960T>A	NM_198129.4	NP_937762.2:p.(Tyr2320Ter)	NC_000018.9:g.21487844T>A	(Likely) pathogenic	1 lab	7b2fb0ab2a
11:118012002 SCN4B G>A	11	118012002	118012002	G	A	SCN4B	c.513C>T	NM_174934.3	NP_777594.1:p.(Gly171=)	NC_000011.9:g.118012002G>A	(Likely) benign	1 lab	7b31d325b1
17:7803696 CHD3 A>G	17	7803696	7803696	A	G	CHD3	c.2948A>G	NM_001005271.3	NP_001005271.2:p.(His983Arg)	NC_000017.10:g.7803696A>G	(Likely) pathogenic	1 lab	7b3bc9b6b2
11:119149351 CBL A>C	11	119149351	119149351	A	C	CBL	c.1359A>C	NM_005188.3	NP_005179.2:p.(Pro453=)	NC_000011.9:g.119149351A>C	(Likely) benign	1 lab	7b3e460911
6:31919830 CFB C>T	6	31919830	31919830	C	T	CFB	c.*23C>T	NM_001710.6	NP_001701.2:p.?	NC_000006.11:g.31919830C>T	(Likely) benign	1 lab	7b3e74a775
12:6078470 VWF T>A	12	6078470	6078470	T	A	VWF	c.7636A>T	NM_000552.5	NP_000543.3:p.(Asn2546Tyr)	NC_000012.11:g.6078470T>A	(Likely) pathogenic	1 lab	7b3f49f04c
16:23641217 PALB2 C>T	16	23641217	23641217	C	T	PALB2	c.2258G>A	NM_024675.4	NP_078951.2:p.(Arg753Gln)	NC_000016.9:g.23641217C>T	(Likely) benign	1 lab	7b49cb0e87
1:241669370 FH AACAGCAGTGCCTCCAGCTGCG>A	1	241669370	241669392	AACAGCAGTGCCTCCAGCTGCG	A	FH	c.816_836del	NM_000143.4	NP_000134.2:p.(Ala273_Val279del)	NC_000001.10:g.241669372_241669392del	(Likely) pathogenic	1 lab	7b4a1bc9da
7:107431677 SLC26A3 G>T	7	107431677	107431677	G	T	SLC26A3	c.386C>A	NM_000111.2	NP_000102.1:p.(Pro129Gln)	NC_000007.13:g.107431677G>T	VUS	1 lab	7b4c60edb7
17:33428066 RAD51D A>T	17	33428066	33428066	A	T	RAD51D	c.904-11T>A	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33428066A>T	(Likely) benign	1 lab	7b4c7bb883
1:196712739 CFH G>A	1	196712739	196712739	G	A	CFH	c.3291G>A	NM_000186.4	NP_000177.2:p.(Thr1097=)	NC_000001.10:g.196712739G>A	VUS	1 lab	7b4cdf7397
5:147478792 SPINK5 T>G	5	147478792	147478792	T	G	SPINK5	c.1011-5T>G	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147478792T>G	VUS	1 lab	03b969679d
19:6702570 C3 T>C	19	6702570	6702570	T	C	C3	c.2266A>G	NM_000064.4	NP_000055.2:p.(Ile756Val)	NC_000019.9:g.6702570T>C	VUS	1 lab	7b4f8b4f29
19:1398980 GAMT A>G	19	1398980	1398980	A	G	GAMT	c.505T>C	NM_000156.6	NP_000147.1:p.(Cys169Arg)	NC_000019.9:g.1398980A>G	(Likely) pathogenic	1 lab	7b50743b87
8:41800454 KAT6A G>A	8	41800454	41800454	G	A	KAT6A	c.2293C>T	NM_006766.5	NP_006757.2:p.(Arg765Ter)	NC_000008.10:g.41800454G>A	(Likely) pathogenic	1 lab	7b51af10fd
X:8700077 ANOS1 T>C	X	8700077	8700077	T	C	ANOS1	c.1A>G	NM_000216.4	NP_000207.2:p.(Met1?)	NC_000023.10:g.8700077T>C	(Likely) pathogenic	1 lab	7b574ce408
13:32906840 BRCA2 G>C	13	32906840	32906840	G	C	BRCA2	c.1225G>C	NM_000059.3	NP_000050.2:p.(Glu409Gln)	NC_000013.10:g.32906840G>C	(Likely) benign	1 lab	7b57906339
6:149718780 TAB2 A>G	6	149718780	149718780	A	G	TAB2	c.1644A>G	NM_015093.5	NP_055908.1:p.(Gln548=)	NC_000006.11:g.149718780A>G	(Likely) benign	1 lab	7b57ce667d
19:36220147 KMT2B G>A	19	36220147	36220147	G	A	KMT2B	c.4867G>A	NM_014727.2	NP_055542.1:p.(Asp1623Asn)	NC_000019.9:g.36220147G>A	(Likely) benign	1 lab	7b58bc1550
1:236849938 ACTN2 C>T	1	236849938	236849938	C	T	ACTN2	c.-36C>T	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236849938C>T	(Likely) benign	1 lab	7b5df16a14
8:31024638 WRN C>T	8	31024638	31024638	C	T	WRN	c.4083C>T	NM_000553.4	NP_000544.2:p.(Ser1361=)	NC_000008.10:g.31024638C>T	(Likely) benign	1 lab	7b5e95e74f
13:20763296 GJB2 A>G	13	20763296	20763296	A	G	GJB2	c.425T>C	NM_004004.5	NP_003995.2:p.(Phe142Ser)	NC_000013.10:g.20763296A>G	VUS	1 lab	7b5fedec5d
2:230650475 TRIP12 C>T	2	230650475	230650475	C	T	TRIP12	c.5092G>A	NM_001348323.3	NP_001335252.1:p.(Glu1698Lys)	NC_000002.11:g.230650475C>T	(Likely) pathogenic	1 lab	7b616d2b7c
18:44109296 LOXHD1 T>C	18	44109296	44109296	T	C	LOXHD1				NC_000018.9:g.44109296T>C	(Likely) pathogenic	1 lab	7b638faaff
2:179427421 TTN T>C	2	179427421	179427421	T	C	TTN	c.83438A>G	NM_001267550.2	NP_001254479.2:p.(Tyr27813Cys)	NC_000002.11:g.179427421T>C	VUS	1 lab	7b64bdcc6b
1:111146408 KCNA2 A>C	1	111146408	111146408	A	C	KCNA2	c.997T>G	NM_004974.4	NP_004965.1:p.(Phe333Val)	NC_000001.10:g.111146408A>C	(Likely) pathogenic	1 lab	7b65c13a38
1:241675391 FH C>A	1	241675391	241675391	C	A	FH	c.431G>T	NM_000143.4	NP_000134.2:p.(Gly144Val)	NC_000001.10:g.241675391C>A	(Likely) pathogenic	1 lab	7b68339aed
3:38763873 SCN10A A>G	3	38763873	38763873	A	G	SCN10A	c.3383T>C	NM_006514.3	NP_006505.3:p.(Leu1128Pro)	NC_000003.11:g.38763873A>G	(Likely) benign	1 lab	7b68ec0512
2:179538393 TTN C>G	2	179538393	179538393	C	G	TTN	c.34753G>C	NM_001267550.2	NP_001254479.2:p.(Val11585Leu)	NC_000002.11:g.179538393C>G	(Likely) benign	1 lab	7b69463ff6
16:3779703 CREBBP G>A	16	3779703	3779703	G	A	CREBBP	c.5345C>T	NM_004380.2	NP_004371.2:p.(Ala1782Val)	NC_000016.9:g.3779703G>A	(Likely) pathogenic	1 lab	7b6c03cb23
7:47915792 PKD1L1 G>A	7	47915792	47915792	G	A	PKD1L1	c.3687C>T	NM_138295.4	NP_612152.1:p.(Tyr1229=)	NC_000007.13:g.47915792G>A	(Likely) benign	1 lab	7b6e47e4d6
16:1412702 GNPTG C>A	16	1412702	1412702	C	A	GNPTG	c.700C>A	NM_032520.5	NP_115909.1:p.(Pro234Thr)	NC_000016.9:g.1412702C>A	VUS	1 lab	12afd80fbb
13:32953473 BRCA2 A>G	13	32953473	32953473	A	G	BRCA2	c.8774A>G	NM_000059.3	NP_000050.2:p.(Gln2925Arg)	NC_000013.10:g.32953473A>G	VUS	1 lab	7b6e95b306
10:96087866 PLCE1 G>C	10	96087866	96087866	G	C	PLCE1	c.*166G>C	NM_016341.3	NP_057425.3:p.?	NC_000010.10:g.96087866G>C	(Likely) benign	1 lab	7b72edb629
4:16077515 PROM1 G>A	4	16077515	16077515	G	A	PROM1				NC_000004.11:g.16077515G>A	(Likely) benign	1 lab	7f89dddd4c
X:153196275 NAA10 A>G	X	153196275	153196275	A	G	NAA10	c.412T>C	NM_003491.4	NP_003482.1:p.(Tyr138His)	NC_000023.10:g.153196275A>G	(Likely) pathogenic	1 lab	7b744291a3
6:3156377 TUBB2A C>A	6	3156377	3156377	C	A	TUBB2A	c.67G>T	NM_001069.2	NP_001060.1:p.(Val23Phe)	NC_000006.11:g.3156377C>A	VUS	1 lab	7b76c3c9e6
8:41552208 ANK1 C>G	8	41552208	41552208	C	G	ANK1	c.3352G>C	NM_001142446.2	NP_001135918.1:p.(Gly1118Arg)	NC_000008.10:g.41552208C>G	VUS	1 lab	03bd0c036b
19:38939458 RYR1 G>A	19	38939458	38939458	G	A	RYR1	c.1122+5G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38939458G>A	VUS	1 lab	7b7e3b06b1
11:123524504 SCN3B A>G	11	123524504	123524504	A	G	SCN3B	c.6T>C	NM_001040151.2	NP_001035241.1:p.(Pro2=)	NC_000011.9:g.123524504A>G	(Likely) benign	1 lab	7b7e54ce6b
6:129802567 LAMA2 C>T	6	129802567	129802567	C	T	LAMA2	c.7732C>T	NM_000426.3	NP_000417.2:p.(Arg2578Ter)	NC_000006.11:g.129802567C>T	(Likely) pathogenic	1 lab	7b7e8da93f
3:38597166 SCN5A T>C	3	38597166	38597166	T	C	SCN5A	c.4523A>G	NM_001099404.2	NP_001092874.1:p.(Lys1508Arg)	NC_000003.11:g.38597166T>C	VUS	1 lab	03becae655
12:6128327 VWF A>C	12	6128327	6128327	A	C	VWF	c.4257T>G	NM_000552.3	NP_000543.2:p.(His1419Gln)	NC_000012.11:g.6128327A>C	(Likely) benign	1 lab	7b7f6bfc4d
2:170382141 KLHL41 C>T	2	170382141	170382141	C	T	KLHL41	c.1756C>T	NM_006063.2	NP_006054.2:p.(Arg586Cys)	NC_000002.11:g.170382141C>T	VUS	1 lab	7b811eda09
11:76867949 MYO7A C>T	11	76867949	76867949	C	T	MYO7A				NC_000011.9:g.76867949C>T	(Likely) pathogenic	1 lab	7b84a0bb1d
3:9793524 OGG1 C>A	3	9793524	9793524	C	A	OGG1	c.456C>A	NM_002542.6	NP_002533.1:p.(Ile152=)	NC_000003.11:g.9793524C>A	VUS	1 lab	12e06f7a8a
4:183714164 TENM3 CAA>C	4	183714164	183714166	CAA	C	TENM3	c.6340_6341del	NM_001080477.3	NP_001073946.1:p.(Lys2114GlufsTer4)	NC_000004.11:g.183714165_183714166del	(Likely) pathogenic	1 lab	7b869df6ab
7:151843692 KMT2C C>T	7	151843692	151843692	C	T	KMT2C	c.14023G>A	NM_170606.3	NP_733751.2:p.(Ala4675Thr)	NC_000007.13:g.151843692C>T	VUS	1 lab	03c0fc5ab8
21:47817349 PCNT C>A	21	47817349	47817349	C	A	PCNT	c.4387C>A	NM_006031.6	NP_006022.3:p.(Leu1463Met)	NC_000021.8:g.47817349C>A	VUS	1 lab	03c1c28ca5
12:56748249 STAT2 C>T	12	56748249	56748249	C	T	STAT2				NC_000012.11:g.56748249C>T	VUS	1 lab	7f8a5f8788
X:153129221 L1CAM G>A	X	153129221	153129221	G	A	L1CAM	c.3457+117C>T	NM_001278116.2	NP_001265045.1:p.?	NC_000023.10:g.153129221G>A	(Likely) pathogenic	1 lab	7b928d2c23
6:44119647 TMEM63B G>A	6	44119647	44119647	G	A	TMEM63B	c.1738G>A	NM_018426.3	NP_060896.1:p.(Gly580Ser)	NC_000006.11:g.44119647G>A	(Likely) pathogenic	1 lab	7b9601264b
7:102996231 PSMC2 A>G	7	102996231	102996231	A	G	PSMC2	c.281A>G	NM_002803.4	NP_002794.1:p.(Gln94Arg)	NC_000007.13:g.102996231A>G	VUS	1 lab	7b97a2e9b0
16:23646965 PALB2 T>C	16	23646965	23646965	T	C	PALB2	c.902A>G	NM_024675.4	NP_078951.2:p.(Asp301Gly)	NC_000016.9:g.23646965T>C	(Likely) benign	1 lab	7b98f02f34
3:93722680 ARL13B G>T	3	93722680	93722680	G	T	ARL13B	c.308G>T	NM_182896.2	NP_878899.1:p.(Arg103Ile)	NC_000003.11:g.93722680G>T	VUS	1 lab	7b9bcf6343
12:6128439 VWF A>T	12	6128439	6128439	A	T	VWF	c.4145T>A	NM_000552.3	NP_000543.2:p.(Leu1382Gln)	NC_000012.11:g.6128439A>T	VUS	1 lab	7b9d182d77
17:33430225 RAD51D C>T	17	33430225	33430225	C	T	RAD51D	c.738+48G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430225C>T	(Likely) benign	1 lab	7b9dcde9d7
8:91033137 DECR1 A>G	8	91033137	91033137	A	G	DECR1	c.391A>G	NM_001330575.2	NP_001317504.1:p.(Ile131Val)	NC_000008.10:g.91033137A>G	VUS	1 lab	03c3be2ad3
7:6029539 PMS2 G>A	7	6029539	6029539	G	A	PMS2	c.1036C>T	NM_000535.5	NP_000526.1:p.(Gln346Ter)	NC_000007.13:g.6029539G>A	(Likely) pathogenic	1 lab	7ba073db90
17:41244509 BRCA1 TTC>T	17	41244509	41244514	TTC	T	BRCA1	c.3037_3038del	NM_007294.4	NP_009225.1:p.(Glu1013AsnfsTer4)	NC_000017.10:g.41244513_41244514del	(Likely) pathogenic	1 lab	03c604b990
5:89910522 ADGRV1 G>A	5	89910522	89910522	G	A	ADGRV1	c.23-130G>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89910522G>A	(Likely) benign	1 lab	0c1451a313
19:36218782 KMT2B C>T	19	36218782	36218782	C	T	KMT2B	c.4393C>T	NM_014727.3	NP_055542.1:p.(His1465Tyr)	NC_000019.9:g.36218782C>T	VUS	1 lab	7ba45c1b89
X:22151650 PHEX T>C	X	22151650	22151650	T	C	PHEX	c.1313T>C	NM_000444.6	NP_000435.3:p.(Leu438Ser)	NC_000023.10:g.22151650T>C	(Likely) pathogenic	1 lab	03c697bf92
15:48903014 FBN1 C>T	15	48903014	48903014	C	T	FBN1	c.257G>A	NM_000138.5	NP_000129.3:p.(Arg86Gln)	NC_000015.9:g.48903014C>T	(Likely) benign	1 lab	7ba8f1d42e
3:48936224 SLC25A20 C>T	3	48936224	48936224	C	T	SLC25A20	c.4G>A	NM_000387.5	NP_000378.1:p.(Ala2Thr)	NC_000003.11:g.48936224C>T	(Likely) benign	1 lab	7baa6dfd16
9:77457134 TRPM6 T>C	9	77457134	77457134	T	C	TRPM6	c.278A>G	NM_017662.4	NP_060132.3:p.(Asp93Gly)	NC_000009.11:g.77457134T>C	VUS	1 lab	7bac1f762d
2:54843402 SPTBN1 C>G	2	54843402	54843402	C	G	SPTBN1				NC_000002.11:g.54843402C>G	VUS	1 lab	7bac806535
17:48701721 CACNA1G G>C	17	48701721	48701721	G	C	CACNA1G	c.6230G>C	NM_018896.4	NP_061496.2:p.(Gly2077Ala)	NC_000017.10:g.48701721G>C	VUS	1 lab	7bb3e541fc
X:107909784 COL4A5 A>G	X	107909784	107909784	A	G	COL4A5	c.3513A>G	NM_033380.2	NP_203699.1:p.(Gln1171=)	NC_000023.10:g.107909784A>G	(Likely) benign	1 lab	7bb6837c94
1:94546207 ABCA4 G>C	1	94546207	94546207	G	C	ABCA4	c.926C>G	NM_000350.2	NP_000341.2:p.(Pro309Arg)	NC_000001.10:g.94546207G>C	VUS	1 lab	7bba867cb1
X:62893915 ARHGEF9 T>C	X	62893915	62893915	T	C	ARHGEF9	c.945+3A>G	NM_001353921.2	NP_001340850.1:p.?	NC_000023.10:g.62893915T>C	VUS	1 lab	7bbe9ceff8
14:102466365 DYNC1H1 A>G	14	102466365	102466365	A	G	DYNC1H1	c.3844A>G	NM_001376.4	NP_001367.2:p.(Ile1282Val)	NC_000014.8:g.102466365A>G	VUS	1 lab	7bbf1415dc
18:32345922 DTNA T>A	18	32345922	32345922	T	A	DTNA	c.68-3T>A	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32345922T>A	VUS	1 lab	03d2ca652d
2:197781192 PGAP1 G>A	2	197781192	197781192	G	A	PGAP1	c.427C>T	NM_024989.3	NP_079265.2:p.(Gln143Ter)	NC_000002.11:g.197781192G>A	(Likely) pathogenic	1 lab	7bca03a018
X:41200808 DDX3X C>CG	X	41200808	41200809	C	CG	DDX3X	c.224dup	NM_001356.4	NP_001347.3:p.(Ser76Ter)	NC_000023.10:g.41200809dup	(Likely) pathogenic	1 lab	7bcb3e22a9
1:196709912 CFH A>G	1	196709912	196709912	A	G	CFH	c.2946A>G	NM_000186.3	NP_000177.2:p.(Pro982=)	NC_000001.10:g.196709912A>G	VUS	1 lab	7bcd3b6463
4:111543425 PITX2 G>C	4	111543425	111543425	G	C	PITX2	c.192C>G	NM_000325.5	NP_000316.2:p.(Ser64Arg)	NC_000004.11:g.111543425G>C	(Likely) benign	1 lab	7bd01ca3c2
13:101721029 NALCN T>C	13	101721029	101721029	T	C	NALCN	c.4330+18A>G	NM_052867.3	NP_443099.1:p.?	NC_000013.10:g.101721029T>C	(Likely) benign	1 lab	7bd2963ad5
12:49440141 KMT2D G>C	12	49440141	49440141	G	C	KMT2D	c.4485C>G	NM_003482.3	NP_003473.3:p.(Tyr1495Ter)	NC_000012.11:g.49440141G>C	(Likely) pathogenic	1 lab	7bd65725b6
X:38144856 RPGR G>A	X	38144856	38144856	G	A	RPGR	c.3396C>T	NM_001034853.1	NP_001030025.1:p.(Asn1132=)	NC_000023.10:g.38144856G>A	(Likely) benign	1 lab	7bd83b7914
2:227898209 COL4A4 C>T	2	227898209	227898209	C	T	COL4A4	c.3506-12G>A	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227898209C>T	VUS	1 lab	7bd888a826
15:99434552 IGF1R A>G	15	99434552	99434552	A	G	IGF1R	c.641-2A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99434552A>G	(Likely) pathogenic	1 lab	7bd9b063a3
10:96025381 PLCE1 CT>C	10	96025381	96025391	CT	C	PLCE1	c.4054-13del	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.96025391del	(Likely) benign	1 lab	0c184e3620
2:47630433 MSH2 C>G	2	47630433	47630433	C	G	MSH2	c.103C>G	NM_000251.3	NP_000242.1:p.(Arg35Gly)	NC_000002.11:g.47630433C>G	VUS	1 lab	7bdba833cf
15:27018187 GABRB3 TGCCGCCGCCGCC>T	15	27018187	27018210	TGCCGCCGCCGCC	T	GABRB3	c.-90_-79del	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.27018199_27018210del	(Likely) benign	1 lab	0c1974b8d4
1:160099281 ATP1A2 G>C	1	160099281	160099281	G	C	ATP1A2				NC_000001.10:g.160099281G>C	(Likely) benign	1 lab	0c699909d9
14:102455194 DYNC1H1 G>A	14	102455194	102455194	G	A	DYNC1H1	c.2868+5G>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102455194G>A	VUS	1 lab	7bde7c5eba
15:72987513 BBS4 T>C	15	72987513	72987513	T	C	BBS4	c.25-5T>C	NM_033028.4	NP_149017.2:p.?	NC_000015.9:g.72987513T>C	(Likely) pathogenic	1 lab	7be02b6654
9:136289423 ADAMTS13 C>T	9	136289423	136289423	C	T	ADAMTS13	c.173-18C>T	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136289423C>T	(Likely) benign	1 lab	7be08b1d43
22:26861473 HPS4 T>A	22	26861473	26861473	T	A	HPS4	c.751A>T	NM_022081.5	NP_071364.4:p.(Thr251Ser)	NC_000022.10:g.26861473T>A	(Likely) benign	1 lab	0c1d998aa0
12:52307405 ACVRL1 G>A	12	52307405	52307405	G	A	ACVRL1	c.376G>A	NM_000020.3	NP_000011.2:p.(Val126Met)	NC_000012.11:g.52307405G>A	(Likely) benign	1 lab	03d6804cc6
20:45194904 SLC13A3 C>G	20	45194904	45194904	C	G	SLC13A3	c.1458G>C	NM_022829.5	NP_073740.2:p.(Ala486=)	NC_000020.10:g.45194904C>G	(Likely) benign	1 lab	7be47de4cc
11:108183108 C11orf65 C>T	11	108183108	108183108	C	T	C11orf65				NC_000011.9:g.108183108C>T	(Likely) benign	1 lab	7be4b968b4
16:16282840 ABCC6 T>TG	16	16282840	16282847	T	TG	ABCC6	c.1636-10dup	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16282847dup	(Likely) benign	1 lab	7be5578033
12:52885374 KRT6A G>A	12	52885374	52885374	G	A	KRT6A	c.687C>T	NM_005554.4	NP_005545.1:p.(Val229=)	NC_000012.11:g.52885374G>A	(Likely) benign	1 lab	03d7f1038d
15:25601959 UBE3A C>A	15	25601959	25601959	C	A	UBE3A	c.1847G>T	NM_000462.3	NP_000453.2:p.(Gly616Val)	NC_000015.9:g.25601959C>A	VUS	1 lab	7be7fac73b
17:41245365 BRCA1 C>G	17	41245365	41245365	C	G	BRCA1	c.2183G>C	NM_007294.3	NP_009225.1:p.(Arg728Thr)	NC_000017.10:g.41245365C>G	VUS	1 lab	7be8ca5ac4
19:48814877 ODAD1 C>T	19	48814877	48814877	C	T	ODAD1	c.419G>A	NM_144577.4	NP_653178.3:p.(Arg140Gln)	NC_000019.9:g.48814877C>T	VUS	1 lab	03d8249573
9:139400946 NOTCH1 C>T	9	139400946	139400946	C	T	NOTCH1	c.4014+33G>A	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139400946C>T	(Likely) benign	1 lab	7bee43b92e
5:148422269 SH3TC2 G>T	5	148422269	148422269	G	T	SH3TC2	c.517C>A	NM_024577.3	NP_078853.2:p.(Leu173Met)	NC_000005.9:g.148422269G>T	VUS	1 lab	7beec9fb70
17:41243878 BRCA1 G>GT	17	41243878	41243879	G	GT	BRCA1	c.3669_3670insA	NM_007294.4	NP_009225.1:p.(Pro1224ThrfsTer10)	NC_000017.10:g.41243878_41243879insT	(Likely) pathogenic	1 lab	7bf4fdd319
2:26684597 OTOF C>T	2	26684597	26684597	C	T	OTOF	c.5500G>A	NM_194248.2	NP_919224.1:p.(Asp1834Asn)	NC_000002.11:g.26684597C>T	(Likely) pathogenic	1 lab	7bfa1b609d
17:65052304 CACNG1 G>A	17	65052304	65052304	G	A	CACNG1	c.586G>A	NM_000727.3	NP_000718.1:p.(Gly196Ser)	NC_000017.10:g.65052304G>A	(Likely) benign	1 lab	7bfd072628
1:237893603 RYR2 T>G	1	237893603	237893603	T	G	RYR2	c.10882T>G	NM_001035.3	NP_001026.2:p.(Trp3628Gly)	NC_000001.10:g.237893603T>G	VUS	1 lab	7bfd1644f6
3:142389878 PLS1 G>A	3	142389878	142389878	G	A	PLS1	c.278G>A	NM_002670.3	NP_002661.2:p.(Arg93Gln)	NC_000003.11:g.142389878G>A	VUS	1 lab	7bff169bed
6:32008352 CYP21A2 G>A	6	32008352	32008352	G	A	CYP21A2	c.1109G>A	NM_000500.9	NP_000491.4:p.(Arg370Gln)	NC_000006.11:g.32008352G>A	VUS	1 lab	7c03d1423e
16:89346679 ANKRD11 G>A	16	89346679	89346679	G	A	ANKRD11	c.6271C>T	NM_013275.5	NP_037407.4:p.(Gln2091Ter)	NC_000016.9:g.89346679G>A	(Likely) pathogenic	1 lab	7c0431e580
X:47485898 CFP A>C	X	47485898	47485898	A	C	CFP	c.961T>G	NM_001145252.3	NP_001138724.1:p.(Trp321Gly)	NC_000023.10:g.47485898A>C	(Likely) pathogenic	1 lab	7c05b3a5bb
7:6022541 PMS2 G>A	7	6022541	6022541	G	A	PMS2	c.2088C>T	NM_000535.7	NP_000526.2:p.(Phe696=)	NC_000007.13:g.6022541G>A	(Likely) benign	1 lab	7c082d9665
4:114276970 ANK2 C>T	4	114276970	114276970	C	T	ANK2	c.7196C>T	NM_001148.5	NP_001139.3:p.(Pro2399Leu)	NC_000004.11:g.114276970C>T	(Likely) benign	1 lab	7c08abe35d
18:29104878 DSG2 G>A	18	29104878	29104878	G	A	DSG2	c.1014+27G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29104878G>A	(Likely) benign	1 lab	7c09add0b3
12:32902874 YARS2 C>T	12	32902874	32902874	C	T	YARS2	c.1271G>A	NM_001040436.2	NP_001035526.1:p.(Arg424Gln)	NC_000012.11:g.32902874C>T	VUS	1 lab	7c0c29c8fe
11:17378395 NCR3LG1 C>T	11	17378395	17378395	C	T	NCR3LG1	c.268C>T	NM_001202439.1	NP_001189368.1:p.(Arg90Ter)	NC_000011.9:g.17378395C>T	(Likely) pathogenic	1 lab	7c0dce852d
3:100447603 TFG C>T	3	100447603	100447603	C	T	TFG	c.316C>T	NM_006070.5	NP_006061.2:p.(Arg106Cys)	NC_000003.11:g.100447603C>T	(Likely) pathogenic	1 lab	7c0f70d46d
7:128482889 FLNC G>C	7	128482889	128482889	G	C	FLNC	c.2431G>C	NM_001458.5	NP_001449.3:p.(Gly811Arg)	NC_000007.13:g.128482889G>C	VUS	1 lab	03d83b0676
17:39912056 JUP G>A	17	39912056	39912056	G	A	JUP	c.2178C>T	NM_002230.3	NP_002221.1:p.(Ile726=)	NC_000017.10:g.39912056G>A	(Likely) benign	1 lab	7c10a125bb
10:88476202 LDB3 C>G	10	88476202	88476202	C	G	LDB3	c.1365C>G	NM_001171610.1	NP_001165081.1:p.(Val455=)	NC_000010.10:g.88476202C>G	VUS	1 lab	7c1172d99d
22:29120991 CHEK2 A>T	22	29120991	29120991	A	T	CHEK2	c.566T>A	NM_007194.3	NP_009125.1:p.(Ile189Asn)	NC_000022.10:g.29120991A>T	VUS	1 lab	7c14844bf8
19:54746081 LILRA6 T>C	19	54746081	54746081	T	C	LILRA6	c.176=	NM_024318.4	NP_077294.3:p.(Arg59=)	NC_000019.9:g.54746081T>C	(Likely) benign	1 lab	0c1e082292
2:48028280 MSH6 G>GT	2	48028280	48028281	G	GT	MSH6	c.3159dup	NM_000179.2	NP_000170.1:p.(Ile1054TyrfsTer12)	NC_000002.11:g.48028281dup	(Likely) pathogenic	1 lab	7c1c085713
17:59861677 BRIP1 T>C	17	59861677	59861677	T	C	BRIP1	c.1582A>G	NM_032043.2	NP_114432.2:p.(Lys528Glu)	NC_000017.10:g.59861677T>C	VUS	1 lab	7c1ceb52f6
17:8026364 HES7 C>T	17	8026364	8026364	C	T	HES7	c.123G>A	NM_001165967.1	NP_001159439.1:p.(Glu41=)	NC_000017.10:g.8026364C>T	(Likely) benign	1 lab	7c1da78850
10:89717602 PTEN C>A	10	89717602	89717602	C	A	PTEN	c.635-8C>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89717602C>A	(Likely) benign	1 lab	7c1f9bad23
6:87964632 ZNF292 C>T	6	87964632	87964632	C	T	ZNF292	c.1285C>T	NM_015021.1	NP_055836.1:p.(Arg429Cys)	NC_000006.11:g.87964632C>T	VUS	1 lab	7c2002fc4f
12:110230501 TRPV4 G>A	12	110230501	110230501	G	A	TRPV4	c.1780C>T	NM_021625.4	NP_067638.3:p.(Arg594Cys)	NC_000012.11:g.110230501G>A	(Likely) pathogenic	1 lab	7c2497fd87
16:68771265 CDH1 G>C	16	68771265	68771265	G	C	CDH1	c.-54G>C	NM_004360.4	NP_004351.1:p.?	NC_000016.9:g.68771265G>C	(Likely) benign	1 lab	7c25460a02
2:179443537 TTN T>C	2	179443537	179443537	T	C	TTN	c.68220A>G	NM_001267550.2	NP_001254479.2:p.(Pro22740=)	NC_000002.11:g.179443537T>C	(Likely) benign	1 lab	7c26c43b33
13:32893396 BRCA2 C>T	13	32893396	32893396	C	T	BRCA2	c.250C>T	NM_000059.3	NP_000050.2:p.(Gln84Ter)	NC_000013.10:g.32893396C>T	(Likely) pathogenic	1 lab	7c2749157d
7:15425096 AGMO T>C	7	15425096	15425096	T	C	AGMO	c.1049A>G	NM_001004320.1	NP_001004320.1:p.(Tyr350Cys)	NC_000007.13:g.15425096T>C	VUS	1 lab	7c2df6858d
6:32946964 BRD2 G>A	6	32946964	32946964	G	A	BRD2	c.1939G>A	NM_001199455.1	NP_001186384.1:p.(Asp647Asn)	NC_000006.11:g.32946964G>A	(Likely) benign	1 lab	0c208ce3a7
5:140961878 DIAPH1 C>T	5	140961878	140961878	C	T	DIAPH1				NC_000005.9:g.140961878C>T	(Likely) pathogenic	1 lab	7c3100158e
12:6103073 VWF G>A	12	6103073	6103073	G	A	VWF	c.6553C>T	NM_000552.3	NP_000543.2:p.(Arg2185Trp)	NC_000012.11:g.6103073G>A	VUS	1 lab	7c476f3d25
13:32914070 BRCA2 A>T	13	32914070	32914070	A	T	BRCA2	c.5578A>T	NM_000059.4	NP_000050.3:p.(Lys1860Ter)	NC_000013.10:g.32914070A>T	(Likely) pathogenic	1 lab	7c34a04c23
9:109691348 ZNF462 C>T	9	109691348	109691348	C	T	ZNF462	c.5155C>T	NM_021224.6	NP_067047.4:p.(Arg1719Cys)	NC_000009.11:g.109691348C>T	VUS	1 lab	7c35c4082a
7:94059899 COL1A2 C>T	7	94059899	94059899	C	T	COL1A2	c.*194C>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94059899C>T	(Likely) benign	1 lab	7c3748856b
12:80900335 MISSING G>T	12	80900335	80900335	G	T	MISSING				NC_000012.11:g.80900335G>T	(Likely) benign	1 lab	7c3ad47fc0
2:121729635 GLI2 C>T	2	121729635	121729635	C	T	GLI2	c.1178C>T	NM_005270.5	NP_005261.2:p.(Thr393Met)	NC_000002.11:g.121729635C>T	(Likely) benign	1 lab	03d9cb3ca6
1:103480151 COL11A1 C>A	1	103480151	103480151	C	A	COL11A1	c.1489-1G>T	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103480151C>A	(Likely) pathogenic	1 lab	7c3ca77ca9
22:38369815 SOX10 G>C	22	38369815	38369815	G	C	SOX10	c.1088C>G	NM_006941.3	NP_008872.1:p.(Pro363Arg)	NC_000022.10:g.38369815G>C	VUS	1 lab	7c3cd79468
15:89865055 POLG T>C	15	89865055	89865055	T	C	POLG	c.2510A>G	NM_002693.3	NP_002684.1:p.(Tyr837Cys)	NC_000015.9:g.89865055T>C	VUS	1 lab	7c3d24f883
11:1955238 TNNT3 G>A	11	1955238	1955238	G	A	TNNT3	c.366G>A	NM_006757.4	NP_006748.1:p.(Ala122=)	NC_000011.9:g.1955238G>A	VUS	1 lab	12f8d5a0ce
5:112170647 APC G>A	5	112170647	112170647	G	A	APC	c.1744-1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112170647G>A	(Likely) pathogenic	1 lab	7c4130c448
14:61113241 SIX1 A>C	14	61113241	61113241	A	C	SIX1	c.615T>G	NM_005982.4	NP_005973.1:p.(Pro205=)	NC_000014.8:g.61113241A>C	(Likely) benign	1 lab	0c22b19a2c
10:74128072 MICU1 T>A	10	74128072	74128072	T	A	MICU1	c.1318A>T	NM_006077.3	NP_006068.2:p.(Lys440Ter)	NC_000010.10:g.74128072T>A	(Likely) pathogenic	1 lab	7c45080c95
X:152991572 ABCD1 C>A	X	152991572	152991572	C	A	ABCD1	c.851C>A	NM_000033.4	NP_000024.2:p.(Ser284Ter)	NC_000023.10:g.152991572C>A	(Likely) pathogenic	1 lab	7c4d40c161
12:46230571 ARID2 C>T	12	46230571	46230571	C	T	ARID2	c.820C>T	NM_152641.2	NP_689854.2:p.(Arg274Ter)	NC_000012.11:g.46230571C>T	(Likely) pathogenic	1 lab	7c51991172
22:29091138 CHEK2 A>G	22	29091138	29091138	A	G	CHEK2	c.1352T>C	NM_007194.4	NP_009125.1:p.(Val451Ala)	NC_000022.10:g.29091138A>G	(Likely) benign	1 lab	7c52a65f42
19:39039004 RYR1 T>C	19	39039004	39039004	T	C	RYR1				NC_000019.9:g.39039004T>C	VUS	1 lab	7c53f9eba0
1:216166438 USH2A G>A	1	216166438	216166438	G	A	USH2A	c.6729C>T	NM_206933.2	NP_996816.2:p.(Gly2243=)	NC_000001.10:g.216166438G>A	VUS	1 lab	7c55a15fa1
10:18289632 SLC39A12 T>C	10	18289632	18289632	T	C	SLC39A12	c.1637T>C	NM_001145195.2	NP_001138667.1:p.(Val546Ala)	NC_000010.10:g.18289632T>C	(Likely) benign	1 lab	03de5722e3
12:52115527 SCN8A G>T	12	52115527	52115527	G	T	SCN8A	c.1833G>T	NM_014191.3	NP_055006.1:p.(Arg611=)	NC_000012.11:g.52115527G>T	(Likely) benign	1 lab	7c567bdc80
11:2799212 KCNQ1 G>A	11	2799212	2799212	G	A	KCNQ1				NC_000011.9:g.2799212G>A	(Likely) benign	1 lab	7c5a7a7c57
19:45208901 CEACAM16 C>T	19	45208901	45208901	C	T	CEACAM16	c.703C>T	NM_001039213.3	NP_001034302.2:p.(Arg235Cys)	NC_000019.9:g.45208901C>T	VUS	1 lab	7c5c6a14ac
X:107869006 COL4A5 G>A	X	107869006	107869006	G	A	COL4A5	c.3088G>A	NM_033380.2	NP_203699.1:p.(Gly1030Ser)	NC_000023.10:g.107869006G>A	(Likely) pathogenic	1 lab	7c5ddde69b
11:103062948 DYNC2H1 G>A	11	103062948	103062948	G	A	DYNC2H1	c.7663G>A	NM_001080463.1	NP_001073932.1:p.(Val2555Met)	NC_000011.9:g.103062948G>A	VUS	1 lab	7c644095b3
3:38739663 SCN10A G>A	3	38739663	38739663	G	A	SCN10A	c.5048C>T	NM_006514.3	NP_006505.3:p.(Pro1683Leu)	NC_000003.11:g.38739663G>A	(Likely) benign	1 lab	7c68afea1d
2:179438465 TTN C>T	2	179438465	179438465	C	T	TTN	c.45574G>A	NM_133432.3	NP_597676.3:p.(Val15192Ile)	NC_000002.11:g.179438465C>T	VUS	1 lab	0c22d03c36
10:121431886 BAG3 G>A	10	121431886	121431886	G	A	BAG3	c.627G>A	NM_004281.3	NP_004272.2:p.(Pro209=)	NC_000010.10:g.121431886G>A	(Likely) benign	1 lab	7c6ae69e03
20:33574741 MYH7B C>T	20	33574741	33574741	C	T	MYH7B	c.1083C>T	NM_020884.4	NP_065935.3:p.(Gly361=)	NC_000020.10:g.33574741C>T	(Likely) benign	1 lab	7c6ea16415
19:54313743 NLRP12 G>T	19	54313743	54313743	G	T	NLRP12	c.1170C>A	NM_144687.4	NP_653288.1:p.(Tyr390Ter)	NC_000019.9:g.54313743G>T	(Likely) pathogenic	1 lab	0c23f69b94
1:103491170 COL11A1 C>T	1	103491170	103491170	C	T	COL11A1	c.898-1G>A	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103491170C>T	(Likely) pathogenic	1 lab	7c768f7fd4
13:32937127 BRCA2 T>C	13	32937127	32937127	T	C	BRCA2	c.7977-189T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937127T>C	(Likely) benign	1 lab	0c2462dea9
22:39627689 PDGFB C>T	22	39627689	39627689	C	T	PDGFB	c.394G>A	NM_002608.4	NP_002599.1:p.(Gly132Ser)	NC_000022.10:g.39627689C>T	VUS	1 lab	7c7f594c75
2:87017440 CD8A G>A	2	87017440	87017440	G	A	CD8A	c.403+11C>T	NM_001145873.1	NP_001139345.1:p.?	NC_000002.11:g.87017440G>A	(Likely) benign	1 lab	0c29f9fadb
3:155547473 SLC33A1 T>G	3	155547473	155547473	T	G	SLC33A1	c.1482+4A>C	NM_004733.4	NP_004724.1:p.?	NC_000003.11:g.155547473T>G	VUS	1 lab	13c7ec2e0f
19:15648715 CYP4F22 G>A	19	15648715	15648715	G	A	CYP4F22	c.582G>A	NM_173483.3	NP_775754.2:p.(Ala194=)	NC_000019.9:g.15648715G>A	(Likely) benign	1 lab	7c8247da61
1:183197550 LAMC2 C>A	1	183197550	183197550	C	A	LAMC2	c.1510C>A	NM_005562.3	NP_005553.2:p.(Pro504Thr)	NC_000001.10:g.183197550C>A	VUS	1 lab	03e082abd0
2:166850838 SCN1A G>A	2	166850838	166850838	G	A	SCN1A	c.4670C>T	NM_001165963.2	NP_001159435.1:p.(Thr1557Ile)	NC_000002.11:g.166850838G>A	VUS	1 lab	7c8e8758a4
1:3347556 PRDM16 C>G	1	3347556	3347556	C	G	PRDM16	c.3405C>G	NM_022114.3	NP_071397.3:p.(Ala1135=)	NC_000001.10:g.3347556C>G	(Likely) benign	1 lab	7c93ff3034
16:23633913 PALB2 T>C	16	23633913	23633913	T	C	PALB2	c.2996+377A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23633913T>C	(Likely) benign	1 lab	7c94797f2a
1:216246299 USH2A C>T	1	216246299	216246299	C	T	USH2A				NC_000001.10:g.216246299C>T	VUS	1 lab	7c95ba5d42
4:1805519 FGFR3 C>G	4	1805519	1805519	C	G	FGFR3	c.1031C>G	NM_000142.5	NP_000133.1:p.(Ser344Cys)	NC_000004.11:g.1805519C>G	(Likely) pathogenic	1 lab	7c98af6c14
9:139402796 NOTCH1 G>A	9	139402796	139402796	G	A	NOTCH1	c.3213C>T	NM_017617.4	NP_060087.3:p.(Gly1071=)	NC_000009.11:g.139402796G>A	(Likely) benign	1 lab	7c98bcb5cd
6:79713446 PHIP C>T	6	79713446	79713446	C	T	PHIP	c.1653+1G>A	NM_017934.5	NP_060404.3:p.?	NC_000006.11:g.79713446C>T	(Likely) pathogenic	1 lab	7ca02e201f
16:89846272 FANCA C>G	16	89846272	89846272	C	G	FANCA	c.1715+5G>C	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89846272C>G	(Likely) pathogenic	1 lab	7ca09e00b5
2:128185947 PROC C>T	2	128185947	128185947	C	T	PROC	c.811C>T	NM_000312.4	NP_000303.1:p.(Arg271Trp)	NC_000002.11:g.128185947C>T	(Likely) pathogenic	1 lab	7ca1727cc8
7:158534372 ESYT2 G>A	7	158534372	158534372	G	A	ESYT2	c.2091C>T	NM_020728.2	NP_065779.1:p.(Ala697=)	NC_000007.13:g.158534372G>A	(Likely) benign	1 lab	7ca17a5b2e
11:101981705 YAP1 G>GGCGGCGCCGCAGGCAC	11	101981705	101981721	G	GGCGGCGCCGCAGGCAC	YAP1	c.127_142dup	NM_001130145.2	NP_001123617.1:p.(Pro48ArgfsTer69)	NC_000011.9:g.101981706_101981721dup	VUS	1 lab	7ca5a25946
1:151384112 POGZ T>G	1	151384112	151384112	T	G	POGZ	c.1915A>C	NM_015100.4	NP_055915.2:p.(Met639Leu)	NC_000001.10:g.151384112T>G	(Likely) pathogenic	1 lab	7ca65b6065
2:160242917 BAZ2B C>A	2	160242917	160242917	C	A	BAZ2B	c.3310G>T	NM_001289975.1	NP_001276904.1:p.(Val1104Leu)	NC_000002.11:g.160242917C>A	VUS	1 lab	03e2e23b98
8:38285913 FGFR1 GTCA>G	8	38285913	38285933	GTCA	G	FGFR1	c.372_374del	NM_001174064.2	NP_001167535.1:p.(Asp125del)	NC_000008.10:g.38285931_38285933del	(Likely) benign	1 lab	03e5a08c20
16:30736271 SRCAP TG>T	16	30736271	30736272	TG	T	SRCAP	c.5527del	NM_006662.2	NP_006653.2:p.(Val1843PhefsTer9)	NC_000016.9:g.30736272del	VUS	1 lab	7ca9f7ce0c
19:52728996 PPP2R1A T>C	19	52728996	52728996	T	C	PPP2R1A				NC_000019.9:g.52728996T>C	VUS	1 lab	7cab888f77
1:216498745 USH2A CATT>C	1	216498745	216498750	CATT	C	USH2A	c.1042_1044del	NM_206933.2	NP_996816.2:p.(Asn348del)	NC_000001.10:g.216498748_216498750del	VUS	1 lab	7cac5052c2
10:43595928 RET C>T	10	43595928	43595928	C	T	RET	c.95C>T	NM_020975.6	NP_066124.1:p.(Ser32Leu)	NC_000010.10:g.43595928C>T	(Likely) pathogenic	1 lab	7caec67cc9
6:118015263 NUS1 C>A	6	118015263	118015263	C	A	NUS1	c.611C>A	NM_138459.5	NP_612468.1:p.(Ala204Asp)	NC_000006.11:g.118015263C>A	(Likely) pathogenic	1 lab	7cb535f675
9:139399932 NOTCH1 G>A	9	139399932	139399932	G	A	NOTCH1	c.4416C>T	NM_017617.4	NP_060087.3:p.(Cys1472=)	NC_000009.11:g.139399932G>A	(Likely) benign	1 lab	7cb7ee3dab
1:94471032 ABCA4 G>A	1	94471032	94471032	G	A	ABCA4	c.6112C>T	NM_000350.2	NP_000341.2:p.(Arg2038Trp)	NC_000001.10:g.94471032G>A	(Likely) pathogenic	1 lab	7cb85189d3
11:68206119 LRP5 C>T	11	68206119	68206119	C	T	LRP5	c.4317C>T	NM_002335.4	NP_002326.2:p.(Ala1439=)	NC_000011.9:g.68206119C>T	(Likely) benign	1 lab	7cb8620b16
19:45889095 PPP1R13L C>T	19	45889095	45889095	C	T	PPP1R13L	c.2068G>A	NM_006663.4	NP_006654.2:p.(Asp690Asn)	NC_000019.9:g.45889095C>T	VUS	1 lab	0c2d06f5d4
21:35821934 KCNE1 CT>C	21	35821934	35821935	CT	C	KCNE1	c.-3del	NM_000219.4	NP_000210.2:p.?	NC_000021.8:g.35821935del	VUS	1 lab	7cb949fb26
6:108222682 SEC63 C>A	6	108222682	108222682	C	A	SEC63	c.1249G>T	NM_007214.4	NP_009145.1:p.(Glu417Ter)	NC_000006.11:g.108222682C>A	(Likely) pathogenic	1 lab	7cb9e2f1a8
6:112528215 LAMA4 G>A	6	112528215	112528215	G	A	LAMA4	c.422+7C>T	NM_001105206.2	NP_001098676.2:p.?	NC_000006.11:g.112528215G>A	(Likely) benign	1 lab	7cbae7a93c
7:158734677 DYNC2I1 A>T	7	158734677	158734677	A	T	DYNC2I1	c.2840A>T	NM_018051.4	NP_060521.4:p.(Gln947Leu)	NC_000007.13:g.158734677A>T	VUS	1 lab	7cbdb5fcd3
12:5153564 KCNA5 A>C	12	5153564	5153564	A	C	KCNA5	c.251A>C	NM_002234.3	NP_002225.2:p.(Glu84Ala)	NC_000012.11:g.5153564A>C	(Likely) benign	1 lab	7cbe289a24
18:52896231 TCF4 G>A	18	52896231	52896231	G	A	TCF4	c.1726C>T	NM_001083962.1	NP_001077431.1:p.(Arg576Ter)	NC_000018.9:g.52896231G>A	(Likely) pathogenic	1 lab	7cc0efa530
10:55583065 PCDH15 TCTGAGACTGAG>T	10	55583065	55583076	TCTGAGACTGAG	T	PCDH15	c.4410_4420del	NM_033056.3	NP_149045.3:p.(Asn1470LysfsTer18)	NC_000010.10:g.55583066_55583076del	VUS	1 lab	7cc624f864
X:154225359 F8 G>A	X	154225359	154225359	G	A	F8	c.277C>T	NM_000132.3	NP_000123.1:p.(Pro93Ser)	NC_000023.10:g.154225359G>A	(Likely) pathogenic	1 lab	7cc85a0583
17:41251871 BRCA1 G>A	17	41251871	41251871	G	A	BRCA1	c.468C>T	NM_007294.4	NP_009225.1:p.(Leu156=)	NC_000017.10:g.41251871G>A	(Likely) benign	1 lab	7ccaddfb50
11:47353096 MYBPC3 G>A	11	47353096	47353096	G	A	MYBPC3	c.*198C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353096G>A	(Likely) benign	1 lab	7ccbd7d6c8
18:50937026 DCC A>G	18	50937026	50937026	A	G	DCC	c.3130+10A>G	NM_005215.4	NP_005206.2:p.?	NC_000018.9:g.50937026A>G	(Likely) benign	1 lab	03e79349c4
10:85956405 CDHR1 A>G	10	85956405	85956405	A	G	CDHR1	c.296A>G	NM_033100.4	NP_149091.1:p.(Glu99Gly)	NC_000010.10:g.85956405A>G	VUS	1 lab	7ccec6cfc6
16:84043391 SLC38A8 A>G	16	84043391	84043391	A	G	SLC38A8	c.1306T>C	NM_001080442.3	NP_001073911.1:p.(Ter436ArgextTer33)	NC_000016.9:g.84043391A>G	VUS	1 lab	7cd1d601f1
6:152706868 SYNE1 G>A	6	152706868	152706868	G	A	SYNE1				NC_000006.11:g.152706868G>A	VUS	1 lab	7cd4112b19
12:49440388 KMT2D T>C	12	49440388	49440388	T	C	KMT2D	c.4418+4A>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49440388T>C	(Likely) pathogenic	1 lab	03e9ec7413
6:97345671 NDUFAF4 C>G	6	97345671	97345671	C	G	NDUFAF4	c.7G>C	NM_014165.3	NP_054884.1:p.(Ala3Pro)	NC_000006.11:g.97345671C>G	(Likely) pathogenic	1 lab	7cd47dc546
X:153171127 AVPR2 G>A	X	153171127	153171127	G	A	AVPR2	c.167G>A	NM_000054.4	NP_000045.1:p.(Gly56Asp)	NC_000023.10:g.153171127G>A	VUS	1 lab	7cd6151e90
15:89847147 FANCI G>A	15	89847147	89847147	G	A	FANCI	c.3058+1G>A	NM_001113378.1	NP_001106849.1:p.?	NC_000015.9:g.89847147G>A	(Likely) pathogenic	1 lab	0c2fe37f49
13:40301618 COG6 C>T	13	40301618	40301618	C	T	COG6	c.1759C>T	NM_020751.3	NP_065802.1:p.(Arg587Cys)	NC_000013.10:g.40301618C>T	VUS	1 lab	7cd86ab779
9:2104080 SMARCA2 G>A	9	2104080	2104080	G	A	SMARCA2				NC_000009.11:g.2104080G>A	(Likely) pathogenic	1 lab	7cdab47f8e
4:87729022 PTPN13 T>A	4	87729022	87729022	T	A	PTPN13	c.7070T>A	NM_080685.2	NP_542416.1:p.(Val2357Glu)	NC_000004.11:g.87729022T>A	VUS	1 lab	7cddae2903
3:38921620 SCN11A A>G	3	38921620	38921620	A	G	SCN11A	c.3220-6T>C	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38921620A>G	(Likely) benign	1 lab	7cdf0ae705
10:121432113 BAG3 C>T	10	121432113	121432113	C	T	BAG3	c.854C>T	NM_004281.3	NP_004272.2:p.(Thr285Met)	NC_000010.10:g.121432113C>T	(Likely) benign	1 lab	7cdf0cb7cc
1:233388102 PCNX2 T>C	1	233388102	233388102	T	C	PCNX2				NC_000001.10:g.233388102T>C	VUS	1 lab	7ce5a2b217
1:3342753 PRDM16 G>C	1	3342753	3342753	G	C	PRDM16	c.3248G>C	NM_022114.4	NP_071397.3:p.(Ser1083Thr)	NC_000001.10:g.3342753G>C	VUS	1 lab	03ef2a0eec
1:12030776 PLOD1 A>G	1	12030776	12030776	A	G	PLOD1	c.1805A>G	NM_000302.3	NP_000293.2:p.(His602Arg)	NC_000001.10:g.12030776A>G	VUS	1 lab	7ce845ec77
11:108150261 ATM G>A	11	108150261	108150261	G	A	ATM	c.3328G>A	NM_000051.3	NP_000042.3:p.(Ala1110Thr)	NC_000011.9:g.108150261G>A	(Likely) benign	1 lab	7ceb97de30
7:107188719 COG5 G>T	7	107188719	107188719	G	T	COG5	c.347+4C>A	NM_001161520.2	NP_001154992.2:p.?	NC_000007.13:g.107188719G>T	(Likely) benign	1 lab	03f0028b65
17:18034607 MYO15A AACG>A	17	18034607	18034612	AACG	A	MYO15A	c.4096_4098del	NM_016239.3	NP_057323.3:p.(Asp1366del)	NC_000017.10:g.18034610_18034612del	VUS	1 lab	7ced9fed83
X:13803889 GPM6B G>A	X	13803889	13803889	G	A	GPM6B				NC_000023.10:g.13803889G>A	VUS	1 lab	7cedfc2c8d
5:138160488 CTNNA1 C>T	5	138160488	138160488	C	T	CTNNA1	c.858C>T	NM_001903.5	NP_001894.2:p.(Asp286=)	NC_000005.9:g.138160488C>T	(Likely) benign	1 lab	7cefc76650
22:32289717 DEPDC5 G>A	22	32289717	32289717	G	A	DEPDC5	c.4183G>A	NM_001242896.1	NP_001229825.1:p.(Ala1395Thr)	NC_000022.10:g.32289717G>A	VUS	1 lab	7cf0d99655
14:64679571 SYNE2 C>A	14	64679571	64679571	C	A	SYNE2	c.18904C>A	NM_182914.2	NP_878918.2:p.(Gln6302Lys)	NC_000014.8:g.64679571C>A	VUS	1 lab	7cf28a60dd
2:167089905 SCN9A C>G	2	167089905	167089905	C	G	SCN9A	c.3836G>C	NM_002977.3	NP_002968.1:p.(Arg1279Pro)	NC_000002.11:g.167089905C>G	VUS	1 lab	7cffacbc9b
15:44912525 SPG11 C>T	15	44912525	44912525	C	T	SPG11	c.2697G>A	NM_025137.3	NP_079413.3:p.(Trp899Ter)	NC_000015.9:g.44912525C>T	(Likely) pathogenic	1 lab	7d05fa0d29
7:40087436 CDK13 G>A	7	40087436	40087436	G	A	CDK13				NC_000007.13:g.40087436G>A	(Likely) pathogenic	1 lab	7d09a3a56e
14:65248816 SPTB A>G	14	65248816	65248816	A	G	SPTB	c.4266+192T>C	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65248816A>G	(Likely) benign	1 lab	0c38130a50
1:10356656 KIF1B G>T	1	10356656	10356656	G	T	KIF1B	c.1794G>T	NM_001365951.3	NP_001352880.1:p.(Glu598Asp)	NC_000001.10:g.10356656G>T	VUS	1 lab	7d0c85b670
9:98231279 PTCH1 G>A	9	98231279	98231279	G	A	PTCH1	c.1806C>T	NM_001083602.3	NP_001077071.1:p.(Tyr602=)	NC_000009.11:g.98231279G>A	(Likely) benign	1 lab	03f3c07edd
7:107323726 SLC26A4 G>A	7	107323726	107323726	G	A	SLC26A4	c.845G>A	NM_000441.1	NP_000432.1:p.(Cys282Tyr)	NC_000007.13:g.107323726G>A	(Likely) pathogenic	1 lab	7d1790fcbe
2:179517643 TTN A>T	2	179517643	179517643	A	T	TTN	c.38891T>A	NM_001267550.2	NP_001254479.2:p.(Ile12964Lys)	NC_000002.11:g.179517643A>T	(Likely) benign	1 lab	7d1a2af6fa
5:45695949 HCN1 C>T	5	45695949	45695949	C	T	HCN1	c.247G>A	NM_021072.4	NP_066550.2:p.(Asp83Asn)	NC_000005.9:g.45695949C>T	VUS	1 lab	7d1d5dbef4
8:55539443 RP1 G>T	8	55539443	55539443	G	T	RP1	c.3001G>T	NM_006269.1	NP_006260.1:p.(Glu1001Ter)	NC_000008.10:g.55539443G>T	(Likely) pathogenic	1 lab	7d254f21e3
1:64125315 PGM1 C>T	1	64125315	64125315	C	T	PGM1	c.1658C>T	NM_002633.2	NP_002624.2:p.(Thr553Met)	NC_000001.10:g.64125315C>T	VUS	1 lab	7d2b633f74
11:68181164 LRP5 GC>G	11	68181164	68181165	GC	G	LRP5	c.2512del	NM_002335.3	NP_002326.2:p.(Arg838GlyfsTer3)	NC_000011.9:g.68181165del	(Likely) pathogenic	1 lab	7d2b71c552
1:29435829 EPB41 G>C	1	29435829	29435829	G	C	EPB41	c.1588-3051G>C	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29435829G>C	(Likely) benign	1 lab	8f661e818e
6:152555013 SYNE1 A>G	6	152555013	152555013	A	G	SYNE1				NC_000006.11:g.152555013A>G	VUS	1 lab	7d2f3c9cf8
17:2575939 PAFAH1B1 T>C	17	2575939	2575939	T	C	PAFAH1B1	c.569-10T>C	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2575939T>C	(Likely) pathogenic	1 lab	7d32b3385e
9:35077263 FANCG TGGCGGTA>T	9	35077263	35077273	TGGCGGTA	T	FANCG	c.637_643del	NM_004629.2	NP_004620.1:p.(Tyr213LysfsTer6)	NC_000009.11:g.35077267_35077273del	(Likely) pathogenic	1 lab	7d346badd9
5:6623356 NSUN2 GTGGTGGGATCATGCTAACAGCTTCTTGACGACTAATATTTCCCTTGAGGAAAAAAAAAAAATCAGCAACAATTAGGAAAAAAAAAAAAACC>G	5	6623356	6623447	GTGGTGGGATCATGCTAACAGCTTCTTGACGACTAATATTTCCCTTGAGGAAAAAAAAAAAATCAGCAACAATTAGGAAAAAAAAAAAAACC	G	NSUN2	c.466-49_507del	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6623357_6623447del	(Likely) pathogenic	1 lab	7d36057742
15:93543813 CHD2 A>T	15	93543813	93543813	A	T	CHD2	c.4080A>T	NM_001271.3	NP_001262.3:p.(Gly1360=)	NC_000015.9:g.93543813A>T	(Likely) pathogenic	1 lab	7d3743425b
6:33405650 SYNGAP1 T>C	6	33405650	33405650	T	C	SYNGAP1	c.968T>C	NM_006772.3	NP_006763.2:p.(Leu323Pro)	NC_000006.11:g.33405650T>C	(Likely) pathogenic	1 lab	7d3d996f31
X:107863558 COL4A5 G>C	X	107863558	107863558	G	C	COL4A5	c.2579G>C	NM_033380.2	NP_203699.1:p.(Gly860Ala)	NC_000023.10:g.107863558G>C	(Likely) pathogenic	1 lab	7d3e8639b0
2:228118815 COL4A3 G>A	2	228118815	228118815	G	A	COL4A3	c.766-13G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228118815G>A	(Likely) benign	1 lab	7d3eaeaef2
1:196882056 CFHR4 A>C	1	196882056	196882056	A	C	CFHR4	c.1180+4A>C	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196882056A>C	VUS	1 lab	7d3fe20e24
14:23896927 MYH7 G>A	14	23896927	23896927	G	A	MYH7	c.1755C>T	NM_000257.3	NP_000248.2:p.(Ile585=)	NC_000014.8:g.23896927G>A	(Likely) benign	1 lab	7d4162e51e
10:112724415 SHOC2 A>G	10	112724415	112724415	A	G	SHOC2	c.299A>G	NM_007373.4	NP_031399.2:p.(Glu100Gly)	NC_000010.10:g.112724415A>G	VUS	1 lab	7d44c0d5fd
8:38285913 FGFR1 G>GTCA	8	38285913	38285933	G	GTCA	FGFR1	c.396_398dup	NM_023110.3	NP_075598.2:p.(Asp133dup)	NC_000008.10:g.38285931_38285933dup	(Likely) benign	1 lab	03f3ea4846
7:148106479 CNTNAP2 A>ACACT	7	148106479	148106482	A	ACACT	CNTNAP2	c.3716-2_3716-1insCTCA	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.148106481_148106482insCTCA	(Likely) benign	1 lab	0c3a341cbf
2:220290429 DES A>G	2	220290429	220290429	A	G	DES	c.1333A>G	NM_001927.4	NP_001918.3:p.(Thr445Ala)	NC_000002.11:g.220290429A>G	(Likely) pathogenic	1 lab	7d4d6a6845
6:138196953 TNFAIP3 GC>G	6	138196953	138196955	GC	G	TNFAIP3	c.617del	NM_001270508.2	NP_001257437.1:p.(Pro206GlnfsTer10)	NC_000006.11:g.138196955del	(Likely) pathogenic	1 lab	0c3db5bdaf
18:43490727 EPG5 G>C	18	43490727	43490727	G	C	EPG5	c.3984-20C>G	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43490727G>C	(Likely) benign	1 lab	0c3f66b8aa
1:247607456 NLRP3 G>C	1	247607456	247607456	G	C	NLRP3	c.2840+12G>C	NM_004895.4	NP_004886.3:p.?	NC_000001.10:g.247607456G>C	(Likely) benign	1 lab	0c4206128c
10:135184253 ECHS1 A>G	10	135184253	135184253	A	G	ECHS1	c.97T>C	NM_004092.4	NP_004083.3:p.(Phe33Leu)	NC_000010.10:g.135184253A>G	VUS	1 lab	7d530abb79
13:32899311 BRCA2 C>T	13	32899311	32899311	C	T	BRCA2	c.415C>T	NM_000059.3	NP_000050.2:p.(Leu139Phe)	NC_000013.10:g.32899311C>T	(Likely) benign	1 lab	7d54fc731f
6:3081280 RIPK1 A>C	6	3081280	3081280	A	C	RIPK1	c.389A>C	NM_001354930.2	NP_001341859.1:p.(His130Pro)	NC_000006.11:g.3081280A>C	(Likely) benign	1 lab	7d57358bec
6:79679816 PHIP AG>A	6	79679816	79679817	AG	A	PHIP				NC_000006.11:g.79679817del	(Likely) pathogenic	1 lab	7d5daef4a8
18:31319341 ASXL3 A>ATACAGACAAAT	18	31319341	31319352	A	ATACAGACAAAT	ASXL3	c.1974_1984dup	NM_030632.3	NP_085135.1:p.(Tyr662LeufsTer19)	NC_000018.9:g.31319342_31319352dup	(Likely) pathogenic	1 lab	7d5dba38c6
16:2164801 PKD1 CG>C	16	2164801	2164805	CG	C	PKD1	c.2222del	NM_001009944.3	NP_001009944.3:p.(Pro741ArgfsTer44)	NC_000016.9:g.2164805del	(Likely) pathogenic	1 lab	7d6019956c
16:56536263 BBS2 A>C	16	56536263	56536263	A	C	BBS2	c.1046T>G	NM_031885.5	NP_114091.4:p.(Leu349Trp)	NC_000016.9:g.56536263A>C	VUS	1 lab	7d63592c72
13:32913844 BRCA2 C>A	13	32913844	32913844	C	A	BRCA2	c.5352C>A	NM_000059.3	NP_000050.2:p.(Asn1784Lys)	NC_000013.10:g.32913844C>A	(Likely) benign	1 lab	7d635f4689
2:179483065 TTN G>T	2	179483065	179483065	G	T	TTN	c.47120C>A	NM_001267550.2	NP_001254479.2:p.(Ala15707Asp)	NC_000002.11:g.179483065G>T	(Likely) benign	1 lab	7d643a2460
8:38271519 FGFR1 A>C	8	38271519	38271519	A	C	FGFR1	c.2209T>G	NM_023110.2	NP_075598.2:p.(Trp737Gly)	NC_000008.10:g.38271519A>C	(Likely) pathogenic	1 lab	7d64a3e19a
10:121432096 BAG3 A>C	10	121432096	121432096	A	C	BAG3	c.837A>C	NM_004281.3	NP_004272.2:p.(Ser279=)	NC_000010.10:g.121432096A>C	(Likely) benign	1 lab	7d6505502b
3:38743543 SCN10A T>C	3	38743543	38743543	T	C	SCN10A	c.4444A>G	NM_006514.3	NP_006505.3:p.(Ile1482Val)	NC_000003.11:g.38743543T>C	VUS	1 lab	7d69e348a9
1:16377999 CLCNKB C>T	1	16377999	16377999	C	T	CLCNKB				NC_000001.10:g.16377999C>T	(Likely) benign	1 lab	7d6e0db2ab
1:152325241 FLG2 T>G	1	152325241	152325241	T	G	FLG2	c.5021A>C	NM_001014342.3	NP_001014364.1:p.(His1674Pro)	NC_000001.10:g.152325241T>G	(Likely) benign	1 lab	03fe64ca25
6:7569507 DSP T>C	6	7569507	7569507	T	C	DSP	c.1508T>C	NM_004415.3	NP_004406.2:p.(Met503Thr)	NC_000006.11:g.7569507T>C	VUS	1 lab	7d6f5736ae
1:103364484 COL11A1 A>T	1	103364484	103364484	A	T	COL11A1	c.4140+13T>A	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103364484A>T	(Likely) benign	1 lab	7d7782cdde
16:75669586 KARS1 A>C	16	75669586	75669586	A	C	KARS1	c.871T>G	NM_001130089.1	NP_001123561.1:p.(Phe291Val)	NC_000016.9:g.75669586A>C	VUS	1 lab	7d7dbe107c
1:17354254 SDHB C>T	1	17354254	17354254	C	T	SDHB	c.530G>A	NM_003000.2	NP_002991.2:p.(Arg177His)	NC_000001.10:g.17354254C>T	VUS	1 lab	7d8339ea3e
2:230650570 TRIP12 C>T	2	230650570	230650570	C	T	TRIP12	c.4997G>A	NM_001348323.3	NP_001335252.1:p.(Arg1666His)	NC_000002.11:g.230650570C>T	VUS	1 lab	7d83fa7a43
12:111348550 MYL2 C>G	12	111348550	111348550	C	G	MYL2				NC_000012.11:g.111348550C>G	(Likely) benign	1 lab	7d89e8ffab
10:89725212 PTEN C>T	10	89725212	89725212	C	T	PTEN	c.1195C>T	NM_000314.8	NP_000305.3:p.(Gln399Ter)	NC_000010.10:g.89725212C>T	VUS	1 lab	7d89ec5e01
19:54627153 PRPF31 G>T	19	54627153	54627153	G	T	PRPF31	c.553G>T	NM_015629.3	NP_056444.3:p.(Glu185Ter)	NC_000019.9:g.54627153G>T	(Likely) pathogenic	1 lab	7d8a81baa5
19:13183887 NFIX C>T	19	13183887	13183887	C	T	NFIX	c.610C>T	NM_001271043.2	NP_001257972.1:p.(Gln204Ter)	NC_000019.9:g.13183887C>T	(Likely) pathogenic	1 lab	7d8af8afaf
7:107315415 SLC26A4 G>T	7	107315415	107315415	G	T	SLC26A4	c.626G>T	NM_000441.1	NP_000432.1:p.(Gly209Val)	NC_000007.13:g.107315415G>T	(Likely) pathogenic	1 lab	7d8c231ed8
16:65022142 CDH11 T>C	16	65022142	65022142	T	C	CDH11	c.917A>G	NM_001797.4	NP_001788.2:p.(Asn306Ser)	NC_000016.9:g.65022142T>C	VUS	1 lab	040137df0a
11:111782316 CRYAB T>C	11	111782316	111782316	T	C	CRYAB	c.133A>G	NM_001885.2	NP_001876.1:p.(Ser45Gly)	NC_000011.9:g.111782316T>C	VUS	1 lab	7d910ed939
3:121973150 CASR T>C	3	121973150	121973150	T	C	CASR	c.114T>C	NM_000388.4	NP_000379.3:p.(Phe38=)	NC_000003.11:g.121973150T>C	(Likely) benign	1 lab	7d916d9d56
13:32906426 BRCA2 G>A	13	32906426	32906426	G	A	BRCA2	c.811G>A	NM_000059.3	NP_000050.2:p.(Gly271Arg)	NC_000013.10:g.32906426G>A	(Likely) benign	1 lab	7d96033102
14:64884645 MTHFD1 G>A	14	64884645	64884645	G	A	MTHFD1	c.518G>A	NM_005956.4	NP_005947.3:p.(Arg173His)	NC_000014.8:g.64884645G>A	VUS	1 lab	04020badb1
17:40847593 CNTNAP1 C>T	17	40847593	40847593	C	T	CNTNAP1	c.3047C>T	NM_003632.3	NP_003623.1:p.(Ala1016Val)	NC_000017.10:g.40847593C>T	VUS	1 lab	7d9e31250c
17:48263679 COL1A1 T>A	17	48263679	48263679	T	A	COL1A1	c.4004A>T	NM_000088.3	NP_000079.2:p.(Gln1335Leu)	NC_000017.10:g.48263679T>A	VUS	1 lab	7d9e9df84e
7:91645491 AKAP9 G>T	7	91645491	91645491	G	T	AKAP9	c.3661G>T	NM_005751.5	NP_005742.4:p.(Glu1221Ter)	NC_000007.13:g.91645491G>T	VUS	1 lab	7da1ef3a4d
6:7580394 DSP A>T	6	7580394	7580394	A	T	DSP	c.3971A>T	NM_004415.4	NP_004406.2:p.(Asn1324Ile)	NC_000006.11:g.7580394A>T	VUS	1 lab	7da1f42db0
2:128412086 LIMS2 T>C	2	128412086	128412086	T	C	LIMS2	c.256A>G	NM_001161404.1	NP_001154876.1:p.(Met86Val)	NC_000002.11:g.128412086T>C	VUS	1 lab	0c42d4b3e3
12:112926852 PTPN11 C>A	12	112926852	112926852	C	A	PTPN11	c.1472C>A	NM_002834.3	NP_002825.3:p.(Pro491His)	NC_000012.11:g.112926852C>A	(Likely) pathogenic	1 lab	7da5139c36
3:182755006 MCCC1 C>G	3	182755006	182755006	C	G	MCCC1	c.1594G>C	NM_020166.5	NP_064551.3:p.(Asp532His)	NC_000003.11:g.182755006C>G	(Likely) pathogenic	1 lab	7da909859e
1:198665902 PTPRC C>A	1	198665902	198665902	C	A	PTPRC	c.162C>A	NM_002838.5	NP_002829.3:p.(Thr54=)	NC_000001.10:g.198665902C>A	(Likely) benign	1 lab	0c456e20ff
17:33445597 RAD51D C>G	17	33445597	33445597	C	G	RAD51D	c.186G>C	NM_002878.4	NP_002869.3:p.(Ser62=)	NC_000017.10:g.33445597C>G	(Likely) benign	1 lab	7dab839c4b
4:186423617 PDLIM3 C>T	4	186423617	186423617	C	T	PDLIM3	c.926G>A	NM_014476.5	NP_055291.2:p.(Arg309Gln)	NC_000004.11:g.186423617C>T	VUS	1 lab	7dab9da6bc
5:112128146 APC A>T	5	112128146	112128146	A	T	APC	c.649A>T	NM_000038.6	NP_000029.2:p.(Arg217Ter)	NC_000005.9:g.112128146A>T	(Likely) pathogenic	1 lab	7daf5117c7
6:16327615 ATXN1 A>G	6	16327615	16327615	A	G	ATXN1	c.927T>C	NM_000332.3	NP_000323.2:p.(Ala309=)	NC_000006.11:g.16327615A>G	(Likely) benign	1 lab	0409b9f14e
20:42815100 JPH2 G>T	20	42815100	42815100	G	T	JPH2	c.246C>A	NM_020433.4	NP_065166.2:p.(Tyr82Ter)	NC_000020.10:g.42815100G>T	VUS	1 lab	7db3908ce8
17:73775210 H3-3B C>G	17	73775210	73775210	C	G	H3-3B	c.46G>C	NM_005324.5	NP_005315.1:p.(Ala16Pro)	NC_000017.10:g.73775210C>G	(Likely) pathogenic	1 lab	7db3c7d991
12:52159580 SCN8A C>T	12	52159580	52159580	C	T	SCN8A	c.2670C>T	NM_014191.3	NP_055006.1:p.(Ala890=)	NC_000012.11:g.52159580C>T	(Likely) benign	1 lab	7db5de26c7
4:4864562 MSX1 C>G	4	4864562	4864562	C	G	MSX1				NC_000004.11:g.4864562C>G	(Likely) pathogenic	1 lab	7db826a59d
11:118015851 SCN4B G>C	11	118015851	118015851	G	C	SCN4B	c.155C>G	NM_174934.3	NP_777594.1:p.(Pro52Arg)	NC_000011.9:g.118015851G>C	VUS	1 lab	7db89c2ed9
7:128488661 FLNC C>T	7	128488661	128488661	C	T	FLNC	c.4627C>T	NM_001458.4	NP_001449.3:p.(Arg1543Trp)	NC_000007.13:g.128488661C>T	(Likely) benign	1 lab	7db922fd72
21:47418078 COL6A1 G>A	21	47418078	47418078	G	A	COL6A1	c.1568G>A	NM_001848.2	NP_001839.2:p.(Gly523Asp)	NC_000021.8:g.47418078G>A	VUS	1 lab	7dbcc3d19f
12:52200885 SCN8A G>A	12	52200885	52200885	G	A	SCN8A	c.5615G>A	NM_014191.3	NP_055006.1:p.(Arg1872Gln)	NC_000012.11:g.52200885G>A	(Likely) pathogenic	1 lab	7dbfc5d6ce
1:87185253 SH3GLB1 A>G	1	87185253	87185253	A	G	SH3GLB1				NC_000001.10:g.87185253A>G	VUS	1 lab	7dc209d914
7:5567760 ACTB C>T	7	5567760	5567760	C	T	ACTB	c.859G>A	NM_001101.3	NP_001092.1:p.(Val287Met)	NC_000007.13:g.5567760C>T	VUS	1 lab	7dc6bb2e38
10:55955539 PCDH15 A>C	10	55955539	55955539	A	C	PCDH15	c.1209T>G	NM_033056.3	NP_149045.3:p.(Tyr403Ter)	NC_000010.10:g.55955539A>C	(Likely) pathogenic	1 lab	7dc99f918d
1:215747444 KCTD3 C>T	1	215747444	215747444	C	T	KCTD3	c.166C>T	NM_016121.3	NP_057205.2:p.(Arg56Ter)	NC_000001.10:g.215747444C>T	VUS	1 lab	7dc9a2facf
2:127826585 BIN1 C>G	2	127826585	127826585	C	G	BIN1	c.434G>C	NM_139343.3	NP_647593.1:p.(Arg145Pro)	NC_000002.11:g.127826585C>G	VUS	1 lab	7dcb820e7f
12:81064144 PTPRQ C>T	12	81064144	81064144	C	T	PTPRQ	c.6475C>T	NM_001145026.2	NP_001138498.1:p.(Arg2159Ter)	NC_000012.11:g.81064144C>T	(Likely) pathogenic	1 lab	7dcf4c7145
16:15835621 MYH11 G>A	16	15835621	15835621	G	A	MYH11	c.2669C>T	NM_001040113.1	NP_001035202.1:p.(Ser890Leu)	NC_000016.9:g.15835621G>A	(Likely) benign	1 lab	7dcfa3e89c
19:17132955 MISSING C>T	19	17132955	17132955	C	T	MISSING				NC_000019.9:g.17132955C>T	VUS	1 lab	7dd06ad969
11:108163424 ATM C>T	11	108163424	108163424	C	T	ATM	c.4515C>T	NM_000051.4	NP_000042.3:p.(Ala1505=)	NC_000011.9:g.108163424C>T	(Likely) benign	1 lab	7dd230f54b
4:155488821 FGB C>T	4	155488821	155488821	C	T	FGB	c.567C>T	NM_005141.4	NP_005132.2:p.(Ser189=)	NC_000004.11:g.155488821C>T	(Likely) benign	1 lab	7dd3a2757c
9:104192183 ALDOB G>A	9	104192183	104192183	G	A	ALDOB	c.178C>T	NM_000035.4	NP_000026.2:p.(Arg60Ter)	NC_000009.11:g.104192183G>A	(Likely) pathogenic	1 lab	7dd5402f1c
10:75849907 VCL C>T	10	75849907	75849907	C	T	VCL	c.1303C>T	NM_014000.2	NP_054706.1:p.(Leu435Phe)	NC_000010.10:g.75849907C>T	VUS	1 lab	0c4815fa62
1:196971755 CFHR5 T>G	1	196971755	196971755	T	G	CFHR5	c.1291T>G	NM_030787.3	NP_110414.1:p.(Cys431Gly)	NC_000001.10:g.196971755T>G	VUS	1 lab	7dd890ae1d
17:48267056 COL1A1 C>A	17	48267056	48267056	C	A	COL1A1	c.2651G>T	NM_000088.4	NP_000079.2:p.(Gly884Val)	NC_000017.10:g.48267056C>A	(Likely) pathogenic	1 lab	7ddae74975
3:193334991 OPA1 G>A	3	193334991	193334991	G	A	OPA1	c.473G>A	NM_130837.2	NP_570850.2:p.(Ser158Asn)	NC_000003.11:g.193334991G>A	(Likely) benign	1 lab	7de46499d0
10:89726849 PTEN T>C	10	89726849	89726849	T	C	PTEN	c.*1620T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89726849T>C	(Likely) benign	1 lab	7de566852c
1:201334742 TNNT2 A>T	1	201334742	201334742	A	T	TNNT2	c.290T>A	NM_001276345.1	NP_001263274.1:p.(Phe97Tyr)	NC_000001.10:g.201334742A>T	VUS	1 lab	7de5c5324f
2:162036192 TANK G>A	2	162036192	162036192	G	A	TANK	c.19G>A	NM_001199135.1	NP_001186064.1:p.(Glu7Lys)	NC_000002.11:g.162036192G>A	(Likely) pathogenic	1 lab	7de651b52e
19:6713419 C3 G>T	19	6713419	6713419	G	T	C3	c.875C>A	NM_000064.4	NP_000055.2:p.(Pro292Gln)	NC_000019.9:g.6713419G>T	VUS	1 lab	813f8b2a14
15:67477073 SMAD3 G>A	15	67477073	67477073	G	A	SMAD3	c.880G>A	NM_005902.3	NP_005893.1:p.(Val294Met)	NC_000015.9:g.67477073G>A	(Likely) pathogenic	1 lab	7de6e6f69a
1:169515676 F5 T>C	1	169515676	169515676	T	C	F5	c.1762+4A>G	NM_000130.4	NP_000121.2:p.?	NC_000001.10:g.169515676T>C	(Likely) pathogenic	1 lab	7dea7fcc43
5:112136993 APC GC>G	5	112136993	112136994	GC	G	APC	c.748del	NM_000038.6	NP_000029.2:p.(His250MetfsTer43)	NC_000005.9:g.112136994del	(Likely) pathogenic	1 lab	7deadd3448
3:52440354 BAP1 A>C	3	52440354	52440354	A	C	BAP1	c.698T>G	NM_004656.3	NP_004647.1:p.(Val233Gly)	NC_000003.11:g.52440354A>C	VUS	1 lab	7decd60ac4
22:40697184 TNRC6B C>T	22	40697184	40697184	C	T	TNRC6B	c.3967C>T	NM_001162501.1	NP_001155973.1:p.(Gln1323Ter)	NC_000022.10:g.40697184C>T	(Likely) pathogenic	1 lab	7dedb8c6bc
7:35242340 TBX20 C>T	7	35242340	35242340	C	T	TBX20	c.1046G>A	NM_001077653.2	NP_001071121.1:p.(Trp349Ter)	NC_000007.13:g.35242340C>T	VUS	1 lab	7def86d926
7:138429871 ATP6V0A4 C>T	7	138429871	138429871	C	T	ATP6V0A4	c.1475G>A	NM_020632.2	NP_065683.2:p.(Trp492Ter)	NC_000007.13:g.138429871C>T	(Likely) pathogenic	1 lab	7df1cdc7b9
10:112541491 RBM20 T>C	10	112541491	112541491	T	C	RBM20	c.1124T>C	NM_001134363.3	NP_001127835.2:p.(Phe375Ser)	NC_000010.10:g.112541491T>C	VUS	1 lab	7df58c7432
12:111348779 MYL2 G>T	12	111348779	111348779	G	T	MYL2	c.*102C>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348779G>T	(Likely) benign	1 lab	7df7892da2
14:101004319 BEGAIN G>C	14	101004319	101004319	G	C	BEGAIN	c.1769C>G	NM_020836.3	NP_065887.1:p.(Thr590Ser)	NC_000014.8:g.101004319G>C	VUS	1 lab	7df82d8453
3:9495428 SETD5 G>T	3	9495428	9495428	G	T	SETD5				NC_000003.11:g.9495428G>T	(Likely) pathogenic	1 lab	7df8ace1bf
4:88584148 DMP1 C>T	4	88584148	88584148	C	T	DMP1	c.1218C>T	NM_004407.4	NP_004398.1:p.(Ser406=)	NC_000004.11:g.88584148C>T	(Likely) benign	1 lab	041376a17a
17:10417001 MYH1 T>C	17	10417001	10417001	T	C	MYH1	c.747A>G	NM_005963.4	NP_005954.3:p.(Lys249=)	NC_000017.10:g.10417001T>C	VUS	1 lab	146c6a750f
1:201337170 TNNT2 A>G	1	201337170	201337170	A	G	TNNT2	c.133+120T>C	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201337170A>G	(Likely) benign	1 lab	7dfe83d5df
18:33716317 ELP2 C>G	18	33716317	33716317	C	G	ELP2	c.265C>G	NM_018255.4	NP_060725.1:p.(His89Asp)	NC_000018.9:g.33716317C>G	VUS	1 lab	141817ba49
19:35524862 SCN1B C>G	19	35524862	35524862	C	G	SCN1B	c.448+219C>G	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35524862C>G	(Likely) benign	1 lab	7dffd19489
10:21148647 NEBL T>G	10	21148647	21148647	T	G	NEBL	c.793A>C	NM_006393.2	NP_006384.1:p.(Ser265Arg)	NC_000010.10:g.21148647T>G	VUS	1 lab	91a8287e6f
11:119145612 CBL C>T	11	119145612	119145612	C	T	CBL	c.818C>T	NM_005188.3	NP_005179.2:p.(Thr273Met)	NC_000011.9:g.119145612C>T	VUS	1 lab	7e056d31e9
6:152675958 SYNE1 C>T	6	152675958	152675958	C	T	SYNE1	c.10762G>A	NM_182961.4	NP_892006.3:p.(Glu3588Lys)	NC_000006.11:g.152675958C>T	VUS	1 lab	7e05c41596
X:53564590 HUWE1 G>A	X	53564590	53564590	G	A	HUWE1	c.12064C>T	NM_031407.5	NP_113584.3:p.(Arg4022Cys)	NC_000023.10:g.53564590G>A	(Likely) pathogenic	1 lab	7e07650fbf
5:139494568 PURA G>A	5	139494568	139494568	G	A	PURA	c.802G>A	NM_005859.5	NP_005850.1:p.(Gly268Arg)	NC_000005.9:g.139494568G>A	VUS	1 lab	7e0f556775
19:38993313 RYR1 C>T	19	38993313	38993313	C	T	RYR1	c.7781C>T	NM_000540.3	NP_000531.2:p.(Ser2594Leu)	NC_000019.9:g.38993313C>T	VUS	1 lab	041fb156f6
19:6714091 C3 G>A	19	6714091	6714091	G	A	C3	c.685C>T	NM_000064.4	NP_000055.2:p.(Leu229=)	NC_000019.9:g.6714091G>A	VUS	1 lab	7e1022f736
14:23884137 MYH7 T>A	14	23884137	23884137	T	A	MYH7	c.5559+67A>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23884137T>A	(Likely) benign	1 lab	7e1260ba20
16:16244462 ABCC6 C>T	16	16244462	16244462	C	T	ABCC6	c.4376G>A	NM_001171.5	NP_001162.4:p.(Arg1459His)	NC_000016.9:g.16244462C>T	(Likely) pathogenic	1 lab	7e13f8346d
3:38645449 SCN5A G>T	3	38645449	38645449	G	T	SCN5A	c.1644C>A	NM_198056.2	NP_932173.1:p.(Asn548Lys)	NC_000003.11:g.38645449G>T	(Likely) benign	1 lab	7e1552dce3
11:47364853 MYBPC3 A>G	11	47364853	47364853	A	G	MYBPC3	c.1224-40T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364853A>G	(Likely) benign	1 lab	7e16bb3dff
2:26502182 HADHB A>G	2	26502182	26502182	A	G	HADHB	c.810A>G	NM_000183.3	NP_000174.1:p.(Pro270=)	NC_000002.11:g.26502182A>G	VUS	1 lab	7e1aa56f3d
13:23808734 SGCG T>C	13	23808734	23808734	T	C	SGCG	c.196-16T>C	NM_000231.2	NP_000222.1:p.?	NC_000013.10:g.23808734T>C	(Likely) benign	1 lab	7e1bc3618a
1:41285553 KCNQ4 T>C	1	41285553	41285553	T	C	KCNQ4	c.841T>C	NM_004700.3	NP_004691.2:p.(Leu281=)	NC_000001.10:g.41285553T>C	(Likely) benign	1 lab	7e1c318042
9:35685267 TPM2 TCTCGGCCAC>T	9	35685267	35685279	TCTCGGCCAC	T	TPM2	c.553_561del	NM_003289.3	NP_003280.2:p.(Val185_Glu187del)	NC_000009.11:g.35685271_35685279del	(Likely) pathogenic	1 lab	7e1f3eba02
15:52615589 MYO5A C>T	15	52615589	52615589	C	T	MYO5A	c.4688G>A	NM_000259.3	NP_000250.3:p.(Arg1563Gln)	NC_000015.9:g.52615589C>T	VUS	1 lab	042019ec20
14:64596791 SYNE2 T>G	14	64596791	64596791	T	G	SYNE2	c.14165T>G	NM_182914.2	NP_878918.2:p.(Met4722Arg)	NC_000014.8:g.64596791T>G	(Likely) benign	1 lab	7e229a1e3f
13:32912521 BRCA2 A>T	13	32912521	32912521	A	T	BRCA2	c.4029A>T	NM_000059.4	NP_000050.3:p.(Lys1343Asn)	NC_000013.10:g.32912521A>T	(Likely) benign	1 lab	7e23b4ded4
X:1409286 CSF2RA G>C	X	1409286	1409286	G	C	CSF2RA	c.530G>C	NM_006140.5	NP_006131.2:p.(Gly177Ala)	NC_000023.10:g.1409286G>C	(Likely) benign	1 lab	0c4ca0dfa6
16:89349138 ANKRD11 G>A	16	89349138	89349138	G	A	ANKRD11	c.3812C>T	NM_013275.6	NP_037407.4:p.(Ser1271Leu)	NC_000016.9:g.89349138G>A	(Likely) benign	1 lab	7e27beb2e4
7:47840307 PKD1L1 C>A	7	47840307	47840307	C	A	PKD1L1	c.8133G>T	NM_138295.3	NP_612152.1:p.(Arg2711=)	NC_000007.13:g.47840307C>A	(Likely) benign	1 lab	7e2d900078
9:79954646 VPS13A T>G	9	79954646	79954646	T	G	VPS13A	c.6593T>G	NM_033305.2	NP_150648.2:p.(Val2198Gly)	NC_000009.11:g.79954646T>G	VUS	1 lab	7e2d91e8a3
15:93522447 CHD2 A>G	15	93522447	93522447	A	G	CHD2	c.2810A>G	NM_001271.3	NP_001262.3:p.(His937Arg)	NC_000015.9:g.93522447A>G	VUS	1 lab	7e2e48fcc2
14:23744826 HOMEZ TTCC>T	14	23744826	23744846	TTCC	T	HOMEZ	c.1608_1610del	NM_020834.3	NP_065885.2:p.(Glu537del)	NC_000014.8:g.23744844_23744846del	(Likely) benign	1 lab	0c4ca4a64c
3:9982815 CRELD1 C>T	3	9982815	9982815	C	T	CRELD1	c.658C>T	NM_015513.6	NP_056328.3:p.(Arg220Ter)	NC_000003.11:g.9982815C>T	(Likely) pathogenic	1 lab	042574fb72
2:26717916 OTOF C>G	2	26717916	26717916	C	G	OTOF	c.791G>C	NM_194248.2	NP_919224.1:p.(Arg264Pro)	NC_000002.11:g.26717916C>G	(Likely) pathogenic	1 lab	7e31d3887e
2:179453773 TTN G>A	2	179453773	179453773	G	A	TTN	c.62679C>T	NM_001267550.2	NP_001254479.2:p.(Gly20893=)	NC_000002.11:g.179453773G>A	(Likely) benign	1 lab	7e37617de3
6:7880316 BMP6 C>T	6	7880316	7880316	C	T	BMP6	c.1374C>T	NM_001718.5	NP_001709.1:p.(His458=)	NC_000006.11:g.7880316C>T	(Likely) benign	1 lab	7e37fa198f
4:9836555 SLC2A9 C>T	4	9836555	9836555	C	T	SLC2A9	c.1369G>A	NM_020041.3	NP_064425.2:p.(Val457Ile)	NC_000004.11:g.9836555C>T	(Likely) benign	1 lab	0c4db9ad10
19:6686185 C3 G>A	19	6686185	6686185	G	A	C3	c.3760C>T	NM_000064.2	NP_000055.2:p.(Arg1254Cys)	NC_000019.9:g.6686185G>A	VUS	1 lab	7e3bd2d451
20:43653622 STK4 G>A	20	43653622	43653622	G	A	STK4	c.1156G>A	NM_006282.5	NP_006273.1:p.(Glu386Lys)	NC_000020.10:g.43653622G>A	VUS	1 lab	042a756a25
1:94490573 ABCA4 T>A	1	94490573	94490573	T	A	ABCA4	c.4571A>T	NM_000350.2	NP_000341.2:p.(Asp1524Val)	NC_000001.10:g.94490573T>A	VUS	1 lab	7e3ff036b7
12:56495714 ERBB3 G>T	12	56495714	56495714	G	T	ERBB3	c.3904G>T	NM_001982.4	NP_001973.2:p.(Ala1302Ser)	NC_000012.11:g.56495714G>T	VUS	1 lab	042ace0427
4:6610918 MAN2B2 T>A	4	6610918	6610918	T	A	MAN2B2	c.1899T>A	NM_015274.3	NP_056089.1:p.(Asp633Glu)	NC_000004.11:g.6610918T>A	VUS	1 lab	042cb9299d
8:28574208 EXTL3 A>G	8	28574208	28574208	A	G	EXTL3	c.632A>G	NM_001440.4	NP_001431.1:p.(Asp211Gly)	NC_000008.10:g.28574208A>G	(Likely) pathogenic	1 lab	7e4054d874
5:37001089 NIPBL A>G	5	37001089	37001089	A	G	NIPBL	c.3575-2A>G	NM_133433.3	NP_597677.2:p.?	NC_000005.9:g.37001089A>G	(Likely) pathogenic	1 lab	7e49a764df
1:16378000 CLCNKB A>G	1	16378000	16378000	A	G	CLCNKB				NC_000001.10:g.16378000A>G	(Likely) benign	1 lab	7e49de645d
1:196648897 CFH G>A	1	196648897	196648897	G	A	CFH	c.764G>A	NM_000186.3	NP_000177.2:p.(Gly255Glu)	NC_000001.10:g.196648897G>A	VUS	1 lab	7e4a204cf7
17:29665667 NF1 G>C	17	29665667	29665667	G	C	NF1	c.6820-55G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29665667G>C	(Likely) benign	1 lab	7e4a53094b
11:2466684 KCNQ1 GC>TT	11	2466684	2466685	GC	TT	KCNQ1	c.356_357delinsTT	NM_000218.3	NP_000209.2:p.(Gly119Val)	NC_000011.9:g.2466684_2466685delinsTT	(Likely) pathogenic	1 lab	7e4d20c4be
2:47702271 MSH2 G>C	2	47702271	47702271	G	C	MSH2	c.1867G>C	NM_000251.2	NP_000242.1:p.(Ala623Pro)	NC_000002.11:g.47702271G>C	(Likely) benign	1 lab	7e525b0964
10:89685269 PTEN G>A	10	89685269	89685269	G	A	PTEN	c.165-1G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89685269G>A	(Likely) pathogenic	1 lab	7e530820cf
6:7580032 DSP GA>AG	6	7580032	7580033	GA	AG	DSP	c.3609_3610delinsAG	NM_004415.2	NP_004406.2:p.(Met1203_Ser1204delinsIleGly)	NC_000006.11:g.7580032_7580033delinsAG	VUS	1 lab	7e57013bff
6:112454085 LAMA4 C>T	6	112454085	112454085	C	T	LAMA4	c.3704G>A	NM_001105206.2	NP_001098676.2:p.(Arg1235His)	NC_000006.11:g.112454085C>T	(Likely) benign	1 lab	7e5890718e
11:118377355 KMT2A G>A	11	118377355	118377355	G	A	KMT2A	c.10748G>A	NM_001197104.2	NP_001184033.1:p.(Gly3583Asp)	NC_000011.9:g.118377355G>A	(Likely) benign	1 lab	7e5be1f75a
20:57599353 TUBB1 C>CA	20	57599353	57599354	C	CA	TUBB1	c.872dup	NM_030773.4	NP_110400.1:p.(Gln292AlafsTer13)	NC_000020.10:g.57599354dup	(Likely) pathogenic	1 lab	7e61bad3bb
20:10629305 JAG1 G>A	20	10629305	10629305	G	A	JAG1	c.1461C>T	NM_000214.2	NP_000205.1:p.(Asp487=)	NC_000020.10:g.10629305G>A	(Likely) benign	1 lab	7e64ec89c2
19:47249296 FKRP G>C	19	47249296	47249296	G	C	FKRP				NC_000019.9:g.47249296G>C	(Likely) benign	1 lab	7e66490428
1:179533915 NPHS2 G>A	1	179533915	179533915	G	A	NPHS2	c.288C>T	NM_014625.2	NP_055440.1:p.(Ser96=)	NC_000001.10:g.179533915G>A	(Likely) benign	1 lab	7e66e829b6
4:1809025 FGFR3 A>G	4	1809025	1809025	A	G	FGFR3	c.*36A>G	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1809025A>G	(Likely) benign	1 lab	7e67388c40
9:135150634 SETX A>G	9	135150634	135150634	A	G	SETX	c.7100+9T>C	NM_015046.5	NP_055861.3:p.?	NC_000009.11:g.135150634A>G	(Likely) benign	1 lab	7e68c1939f
3:38743425 SCN10A C>T	3	38743425	38743425	C	T	SCN10A	c.4562G>A	NM_006514.3	NP_006505.3:p.(Gly1521Asp)	NC_000003.11:g.38743425C>T	VUS	1 lab	7e8ea560a6
7:144096038 NOBOX C>T	7	144096038	144096038	C	T	NOBOX	c.1469+5G>A	NM_001080413.3	NP_001073882.3:p.?	NC_000007.13:g.144096038C>T	VUS	1 lab	04397a3d9b
19:39219780 ACTN4 T>C	19	39219780	39219780	T	C	ACTN4	c.2563T>C	NM_004924.4	NP_004915.2:p.(Leu855=)	NC_000019.9:g.39219780T>C	(Likely) benign	1 lab	7e6c376506
11:108190806 ATM T>C	11	108190806	108190806	T	C	ATM	c.6452+21T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190806T>C	(Likely) benign	1 lab	7e6cc0d129
1:155874280 RIT1 G>A	1	155874280	155874280	G	A	RIT1	c.251C>T	NM_006912.6	NP_008843.1:p.(Ala84Val)	NC_000001.10:g.155874280G>A	(Likely) pathogenic	1 lab	7e7438a836
8:61750674 CHD7 C>T	8	61750674	61750674	C	T	CHD7	c.4393C>T	NM_017780.3	NP_060250.2:p.(Arg1465Ter)	NC_000008.10:g.61750674C>T	(Likely) pathogenic	1 lab	7e7668f262
6:152694323 SYNE1 T>G	6	152694323	152694323	T	G	SYNE1	c.9356A>C	NM_182961.3	NP_892006.3:p.(His3119Pro)	NC_000006.11:g.152694323T>G	VUS	1 lab	7e799b8461
17:37822300 TCAP A>C	17	37822300	37822300	A	C	TCAP	c.442A>C	NM_003673.3	NP_003664.1:p.(Lys148Gln)	NC_000017.10:g.37822300A>C	VUS	1 lab	7e7be326b6
12:25398282 KRAS C>T	12	25398282	25398282	C	T	KRAS	c.37G>A	NM_004985.5	NP_004976.2:p.(Gly13Ser)	NC_000012.11:g.25398282C>T	VUS	1 lab	7e7d48f89f
10:78317014 LRMDA G>A	10	78317014	78317014	G	A	LRMDA	c.649G>A	NM_001305581.1	NP_001292510.1:p.(Gly217Ser)	NC_000010.10:g.78317014G>A	VUS	1 lab	7e81b9c137
13:32911145 BRCA2 G>A	13	32911145	32911145	G	A	BRCA2	c.2653G>A	NM_000059.3	NP_000050.2:p.(Asp885Asn)	NC_000013.10:g.32911145G>A	(Likely) benign	1 lab	7e898048b0
9:134382835 POMT1 C>T	9	134382835	134382835	C	T	POMT1	c.361C>T	NM_007171.3	NP_009102.3:p.(Gln121Ter)	NC_000009.11:g.134382835C>T	(Likely) pathogenic	1 lab	7e89924852
19:38976407 RYR1 C>T	19	38976407	38976407	C	T	RYR1				NC_000019.9:g.38976407C>T	(Likely) benign	1 lab	7e8f40be22
X:18525275 CDKL5 G>A	X	18525275	18525275	G	A	CDKL5	c.59G>A	NM_003159.2	NP_003150.1:p.(Gly20Asp)	NC_000023.10:g.18525275G>A	(Likely) pathogenic	1 lab	7e953302e7
8:38273584 FGFR1 G>C	8	38273584	38273584	G	C	FGFR1	c.1664-6C>G	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38273584G>C	(Likely) benign	1 lab	7e95f06082
2:131355524 CFC1 G>A	2	131355524	131355524	G	A	CFC1	c.279C>T	NM_032545.3	NP_115934.1:p.(Asn93=)	NC_000002.11:g.131355524G>A	(Likely) benign	1 lab	7e9c487276
10:88478551 LDB3 C>A	10	88478551	88478551	C	A	LDB3	c.1940C>A	NM_001171610.2	NP_001165081.1:p.(Pro647His)	NC_000010.10:g.88478551C>A	VUS	1 lab	04421c2ff6
6:7585805 DSP T>C	6	7585805	7585805	T	C	DSP	c.8310T>C	NM_004415.3	NP_004406.2:p.(Tyr2770=)	NC_000006.11:g.7585805T>C	(Likely) benign	1 lab	7e9ecb8bfc
9:377143 DOCK8 T>C	9	377143	377143	T	C	DOCK8	c.2372T>C	NM_203447.3	NP_982272.2:p.(Phe791Ser)	NC_000009.11:g.377143T>C	VUS	1 lab	7f8c6e2aa0
2:167304161 SCN7A A>G	2	167304161	167304161	A	G	SCN7A	c.1348T>C	NM_002976.3	NP_002967.2:p.(Leu450=)	NC_000002.11:g.167304161A>G	(Likely) benign	1 lab	7ea10e51ed
12:49432134 KMT2D G>T	12	49432134	49432134	G	T	KMT2D	c.9005C>A	NM_003482.3	NP_003473.3:p.(Ala3002Asp)	NC_000012.11:g.49432134G>T	VUS	1 lab	7ea1170616
5:149535255 PDGFRB G>A	5	149535255	149535255	G	A	PDGFRB	c.-302C>T	NM_002609.3	NP_002600.1:p.?	NC_000005.9:g.149535255G>A	(Likely) benign	1 lab	7ea1b04b7b
3:184091243 THPO C>T	3	184091243	184091243	C	T	THPO	c.356G>A	NM_000460.4	NP_000451.1:p.(Arg119His)	NC_000003.11:g.184091243C>T	(Likely) pathogenic	1 lab	7ea1d2719c
6:157528547 ARID1B T>C	6	157528547	157528547	T	C	ARID1B	c.6521T>C	NM_001371656.1	NP_001358585.1:p.(Ile2174Thr)	NC_000006.11:g.157528547T>C	(Likely) benign	1 lab	04421cf870
21:44485349 CBS C>T	21	44485349	44485349	C	T	CBS	c.700G>A	NM_000071.2	NP_000062.1:p.(Asp234Asn)	NC_000021.8:g.44485349C>T	VUS	1 lab	7ea2a6d6af
2:179453387 TTN C>T	2	179453387	179453387	C	T	TTN	c.63065G>A	NM_001267550.2	NP_001254479.2:p.(Arg21022His)	NC_000002.11:g.179453387C>T	VUS	1 lab	7ea4a14e02
15:48779509 FBN1 C>T	15	48779509	48779509	C	T	FBN1	c.3463G>A	NM_000138.5	NP_000129.3:p.(Asp1155Asn)	NC_000015.9:g.48779509C>T	(Likely) pathogenic	1 lab	7ea61235e0
1:94466625 ABCA4 G>A	1	94466625	94466625	G	A	ABCA4				NC_000001.10:g.94466625G>A	(Likely) pathogenic	1 lab	7ea6f23d9d
1:1956870 GABRD C>T	1	1956870	1956870	C	T	GABRD	c.249+30C>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1956870C>T	(Likely) benign	1 lab	0c53e500cd
12:6103274 VWF G>A	12	6103274	6103274	G	A	VWF	c.6352C>T	NM_000552.3	NP_000543.2:p.(Arg2118Trp)	NC_000012.11:g.6103274G>A	VUS	1 lab	7ea983fe6e
22:33700420 LARGE1 C>T	22	33700420	33700420	C	T	LARGE1	c.1525G>A	NM_004737.5	NP_004728.1:p.(Glu509Lys)	NC_000022.10:g.33700420C>T	(Likely) pathogenic	1 lab	7ea9fd1970
12:110777209 ATP2A2 G>C	12	110777209	110777209	G	C	ATP2A2	c.1542+1G>C	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110777209G>C	(Likely) pathogenic	1 lab	7eaa5949f7
3:189585665 TP63 A>G	3	189585665	189585665	A	G	TP63	c.926A>G	NM_003722.4	NP_003713.3:p.(Asn309Ser)	NC_000003.11:g.189585665A>G	(Likely) pathogenic	1 lab	7eaa795f90
X:153607931 EMD G>T	X	153607931	153607931	G	T	EMD	c.82+5G>T	NM_000117.2	NP_000108.1:p.?	NC_000023.10:g.153607931G>T	(Likely) benign	1 lab	7eab3f1b37
22:41923350 ACO2 G>A	22	41923350	41923350	G	A	ACO2				NC_000022.10:g.41923350G>A	VUS	1 lab	7ead1c140b
19:34868642 GPI A>G	19	34868642	34868642	A	G	GPI	c.522A>G	NM_001184722.1	NP_001171651.1:p.(Gly174=)	NC_000019.9:g.34868642A>G	(Likely) benign	1 lab	04426123c4
2:122288485 RNU4ATAC G>A	2	122288485	122288485	G	A	RNU4ATAC	n.30G>A	NR_023343.1		NC_000002.11:g.122288485G>A	(Likely) pathogenic	1 lab	0443f3ef97
11:47364168 MYBPC3 T>A	11	47364168	47364168	T	A	MYBPC3	c.1585A>T	NM_000256.3	NP_000247.2:p.(Thr529Ser)	NC_000011.9:g.47364168T>A	VUS	1 lab	7eaf668da7
11:61719315 BEST1 C>T	11	61719315	61719315	C	T	BEST1	c.37C>T	NM_004183.3	NP_004174.1:p.(Arg13Cys)	NC_000011.9:g.61719315C>T	(Likely) pathogenic	1 lab	7eb57d8d18
18:19383867 MIB1 G>C	18	19383867	19383867	G	C	MIB1	c.1372-1G>C	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19383867G>C	(Likely) pathogenic	1 lab	7eb9ab3740
20:44580817 ZNF335 G>A	20	44580817	44580817	G	A	ZNF335	c.3158C>T	NM_022095.3	NP_071378.1:p.(Pro1053Leu)	NC_000020.10:g.44580817G>A	VUS	1 lab	7eb9c62a5d
3:171377015 PLD1 AG>A	3	171377015	171377017	AG	A	PLD1	c.2416del	NM_002662.5	NP_002653.1:p.(Leu806Ter)	NC_000003.11:g.171377017del	(Likely) pathogenic	1 lab	04445b9efc
14:23866398 MYH6 G>A	14	23866398	23866398	G	A	MYH6	c.2031C>T	NM_002471.3	NP_002462.2:p.(Pro677=)	NC_000014.8:g.23866398G>A	(Likely) benign	1 lab	7ebd3578a8
8:61714157 CHD7 G>C	8	61714157	61714157	G	C	CHD7	c.2442+5G>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61714157G>C	VUS	1 lab	7ebf86b51c
13:110853848 COL4A1 C>G	13	110853848	110853848	C	G	COL4A1	c.1021G>C	NM_001845.6	NP_001836.3:p.(Gly341Arg)	NC_000013.10:g.110853848C>G	VUS	1 lab	7ec03aec66
14:92477343 TRIP11 A>G	14	92477343	92477343	A	G	TRIP11	c.1301T>C	NM_004239.3	NP_004230.2:p.(Leu434Pro)	NC_000014.8:g.92477343A>G	VUS	1 lab	7ec39c7cc1
3:37053593 MLH1 A>G	3	37053593	37053593	A	G	MLH1	c.677+3A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053593A>G	(Likely) pathogenic	1 lab	7ec46e38c5
15:63901357 HERC1 A>C	15	63901357	63901357	A	C	HERC1	c.14509T>G	NM_003922.3	NP_003913.3:p.(Cys4837Gly)	NC_000015.9:g.63901357A>C	VUS	1 lab	7ecaaf8db7
17:17120344 FLCN C>T	17	17120344	17120344	C	T	FLCN	c.1176+39G>A	NM_144997.6	NP_659434.2:p.?	NC_000017.10:g.17120344C>T	(Likely) benign	1 lab	7ed2960bc4
9:129377660 LMX1B A>G	9	129377660	129377660	A	G	LMX1B	c.140-2A>G	NM_002316.4	NP_002307.2:p.?	NC_000009.11:g.129377660A>G	(Likely) pathogenic	1 lab	7ed52f8736
22:51121790 SHANK3 T>C	22	51121790	51121790	T	C	SHANK3	c.1133T>C	NM_001372044.2	NP_001358973.1:p.(Leu378Pro)	NC_000022.10:g.51121790T>C	(Likely) pathogenic	1 lab	7ed5319696
1:160171018 CASQ1 C>A	1	160171018	160171018	C	A	CASQ1	c.1060-17C>A	NM_001231.5	NP_001222.3:p.?	NC_000001.10:g.160171018C>A	(Likely) benign	1 lab	0c59f09dd4
19:13356019 CACNA1A C>T	19	13356019	13356019	C	T	CACNA1A	c.4930G>A	NM_001127221.1	NP_001120693.1:p.(Asp1644Asn)	NC_000019.9:g.13356019C>T	VUS	1 lab	7ed7f83e1a
19:18266961 PIK3R2 G>A	19	18266961	18266961	G	A	PIK3R2	c.272G>A	NM_005027.4	NP_005018.2:p.(Arg91Gln)	NC_000019.9:g.18266961G>A	VUS	1 lab	045127271d
3:11072916 SLC6A1 C>G	3	11072916	11072916	C	G	SLC6A1	c.1377C>G	NM_003042.3	NP_003033.3:p.(Ser459Arg)	NC_000003.11:g.11072916C>G	(Likely) pathogenic	1 lab	7edba1b789
2:241727628 KIF1A G>A	2	241727628	241727628	G	A	KIF1A	c.203C>T	NM_001244008.1	NP_001230937.1:p.(Ala68Val)	NC_000002.11:g.241727628G>A	VUS	1 lab	7ee0816234
13:32913638 BRCA2 T>C	13	32913638	32913638	T	C	BRCA2	c.5146T>C	NM_000059.3	NP_000050.2:p.(Tyr1716His)	NC_000013.10:g.32913638T>C	(Likely) benign	1 lab	7ee0c87471
17:42332640 SLC4A1 C>T	17	42332640	42332640	C	T	SLC4A1				NC_000017.10:g.42332640C>T	(Likely) pathogenic	1 lab	7ee18b5c29
10:104157955 NFKB2 C>T	10	104157955	104157955	C	T	NFKB2				NC_000010.10:g.104157955C>T	(Likely) benign	1 lab	7ee4dde185
12:116457221 MED13L T>C	12	116457221	116457221	T	C	MED13L	c.821-4A>G	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116457221T>C	(Likely) benign	1 lab	7ee6b82909
6:32008874 TNXB G>A	6	32008874	32008874	G	A	TNXB				NC_000006.11:g.32008874G>A	(Likely) pathogenic	1 lab	80e1d286d2
3:181430750 SOX2 AC>A	3	181430750	181430751	AC	A	SOX2	c.603del	NM_003106.4	NP_003097.1:p.(Asp201GlufsTer2)	NC_000003.11:g.181430751del	(Likely) pathogenic	1 lab	045129ab3c
6:105307435 HACE1 G>A	6	105307435	105307435	G	A	HACE1	c.76+7C>T	NM_020771.4	NP_065822.2:p.?	NC_000006.11:g.105307435G>A	(Likely) benign	1 lab	04537b20e7
1:149895855 SF3B4 G>T	1	149895855	149895855	G	T	SF3B4	c.965C>A	NM_005850.5	NP_005841.1:p.(Pro322His)	NC_000001.10:g.149895855G>T	VUS	1 lab	0453b62cac
6:80657232 ELOVL4 G>A	6	80657232	80657232	G	A	ELOVL4	c.-236C>T	NM_022726.4	NP_073563.1:p.?	NC_000006.11:g.80657232G>A	(Likely) benign	1 lab	7ef1642a24
22:40574141 TNRC6B T>C	22	40574141	40574141	T	C	TNRC6B	c.2T>C	NM_001162501.1	NP_001155973.1:p.(Met1?)	NC_000022.10:g.40574141T>C	(Likely) pathogenic	1 lab	7ef8a14601
7:6027268 PMS2 G>A	7	6027268	6027268	G	A	PMS2	c.1145-17C>T	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6027268G>A	(Likely) benign	1 lab	0c5ebd4e77
17:18039082 MYO15A G>A	17	18039082	18039082	G	A	MYO15A	c.4540G>A	NM_016239.4	NP_057323.3:p.(Glu1514Lys)	NC_000017.10:g.18039082G>A	VUS	1 lab	7efe8c2df8
18:6999439 LAMA1 C>T	18	6999439	6999439	C	T	LAMA1	c.4663+5G>A	NM_005559.3	NP_005550.2:p.?	NC_000018.9:g.6999439C>T	VUS	1 lab	7f023f1525
2:241661942 KIF1A CG>C	2	241661942	241661946	CG	C	KIF1A	c.4595del	NM_001244008.1	NP_001230937.1:p.(Pro1532ArgfsTer67)	NC_000002.11:g.241661946del	(Likely) pathogenic	1 lab	7f03cbdfb3
4:114280096 ANK2 G>A	4	114280096	114280096	G	A	ANK2	c.10322G>A	NM_001148.5	NP_001139.3:p.(Arg3441Gln)	NC_000004.11:g.114280096G>A	VUS	1 lab	7f054c557d
X:21772379 SMPX A>AT	X	21772379	21772381	A	AT	SMPX	c.29dup	NM_014332.3	NP_055147.1:p.(Asn10LysfsTer3)	NC_000023.10:g.21772381dup	(Likely) pathogenic	1 lab	7f06384b43
6:32810790 PSMB8 G>A	6	32810790	32810790	G	A	PSMB8	c.224C>T	NM_148919.3	NP_683720.2:p.(Thr75Met)	NC_000006.11:g.32810790G>A	(Likely) pathogenic	1 lab	7f09ca3346
12:33003770 PKP2 T>C	12	33003770	33003770	T	C	PKP2	c.1308A>G	NM_004572.3	NP_004563.2:p.(Leu436=)	NC_000012.11:g.33003770T>C	(Likely) benign	1 lab	7f0b7ea2cf
1:3328711 PRDM16 G>C	1	3328711	3328711	G	C	PRDM16	c.1950G>C	NM_022114.3	NP_071397.3:p.(Gly650=)	NC_000001.10:g.3328711G>C	(Likely) benign	1 lab	7f0f75752d
14:32142536 NUBPL AAG>A	14	32142536	32142542	AAG	A	NUBPL	c.383-20_383-19del	NM_025152.3	NP_079428.2:p.?	NC_000014.8:g.32142541_32142542del	(Likely) benign	1 lab	0455b606e6
19:10887800 DNM2 G>A	19	10887800	10887800	G	A	DNM2	c.596G>A	NM_001005361.2	NP_001005361.1:p.(Arg199Gln)	NC_000019.9:g.10887800G>A	(Likely) pathogenic	1 lab	7f0fbda212
1:216062036 USH2A C>G	1	216062036	216062036	C	G	USH2A	c.7955G>C	NM_206933.2	NP_996816.2:p.(Gly2652Ala)	NC_000001.10:g.216062036C>G	VUS	1 lab	7f122bf707
14:23900107 MYH7 C>T	14	23900107	23900107	C	T	MYH7	c.895+3G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23900107C>T	(Likely) benign	1 lab	7f12936a71
12:49580417 TUBA1A A>G	12	49580417	49580417	A	G	TUBA1A	c.203T>C	NM_001270399.1	NP_001257328.1:p.(Val68Ala)	NC_000012.11:g.49580417A>G	(Likely) pathogenic	1 lab	7f17f7af57
15:93563164 CHD2 C>CAA	15	93563164	93563177	C	CAA	CHD2	c.4907-66_4907-65dup	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93563176_93563177dup	(Likely) benign	1 lab	34fa3c0292
1:74936863 TNNI3K G>A	1	74936863	74936863	G	A	TNNI3K	c.2121+7629G>A	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74936863G>A	(Likely) benign	1 lab	7f1ba269ed
8:143996657 CYP11B2 C>T	8	143996657	143996657	C	T	CYP11B2	c.400G>A	NM_000498.3	NP_000489.3:p.(Gly134Arg)	NC_000008.10:g.143996657C>T	VUS	1 lab	7f1bc637a0
X:71825380 PHKA1 ATTC>A	X	71825380	71825387	ATTC	A	PHKA1	c.2685+8_2685+10del	NM_002637.3	NP_002628.2:p.?	NC_000023.10:g.71825385_71825387del	(Likely) benign	1 lab	7f213f84ea
6:1610971 FOXC1 G>C	6	1610971	1610971	G	C	FOXC1				NC_000006.11:g.1610971G>C	VUS	1 lab	7f220e84fb
13:32907137 BRCA2 A>G	13	32907137	32907137	A	G	BRCA2	c.1522A>G	NM_000059.3	NP_000050.2:p.(Ile508Val)	NC_000013.10:g.32907137A>G	(Likely) benign	1 lab	7f22e76347
4:77087389 SCARB2 G>A	4	77087389	77087389	G	A	SCARB2	c.1239+14C>T	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77087389G>A	(Likely) benign	1 lab	0da33f696f
2:48025940 MSH6 G>T	2	48025940	48025940	G	T	MSH6	c.818G>T	NM_000179.2	NP_000170.1:p.(Gly273Val)	NC_000002.11:g.48025940G>T	VUS	1 lab	7f27b6afdb
5:112116484 APC TA>T	5	112116484	112116485	TA	T	APC	c.532-2del	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112116485del	(Likely) pathogenic	1 lab	7f29153ed6
14:23899725 MYH7 A>G	14	23899725	23899725	A	G	MYH7	c.999+44T>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23899725A>G	(Likely) benign	1 lab	7f2932daeb
19:863196 CFD C>T	19	863196	863196	C	T	CFD	c.720C>T	NM_001928.4	NP_001919.2:p.(Arg240=)	NC_000019.9:g.863196C>T	(Likely) benign	1 lab	05506afba6
12:69993753 CCT2 C>T	12	69993753	69993753	C	T	CCT2	c.1546C>T	NM_006431.2	NP_006422.1:p.(Arg516Cys)	NC_000012.11:g.69993753C>T	VUS	1 lab	7f2cd00083
5:112111317 APC A>G	5	112111317	112111317	A	G	APC	c.423-9A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111317A>G	(Likely) pathogenic	1 lab	7f44c85882
2:48033937 MSH6 G>GAAGGA	2	48033937	48033940	G	GAAGGA	MSH6	c.4023_4024insGGAAA	NM_000179.2	NP_000170.1:p.(Arg1342GlyfsTer6)	NC_000002.11:g.48033939_48033940insGGAAA	VUS	1 lab	7f2d00b587
11:121008252 TECTA G>A	11	121008252	121008252	G	A	TECTA				NC_000011.9:g.121008252G>A	VUS	1 lab	7f2ee38eee
6:7562883 DSP A>C	6	7562883	7562883	A	C	DSP	c.598-2A>C	NM_004415.3	NP_004406.2:p.?	NC_000006.11:g.7562883A>C	VUS	1 lab	7f2f549d9a
14:73683956 PSEN1 A>T	14	73683956	73683956	A	T	PSEN1	c.1248+4A>T	NM_000021.3	NP_000012.1:p.?	NC_000014.8:g.73683956A>T	VUS	1 lab	7f33027084
2:122288513 RNU4ATAC C>T	2	122288513	122288513	C	T	RNU4ATAC	n.58C>T	NR_023343.1		NC_000002.11:g.122288513C>T	(Likely) benign	1 lab	04587c88cd
12:21054918 SLCO1B3 T>C	12	21054918	21054918	T	C	SLCO1B3	c.1865+517T>C	NM_019844.4	NP_062818.1:p.?	NC_000012.11:g.21054918T>C	(Likely) benign	1 lab	045a809562
15:72104169 MISSING C>A	15	72104169	72104169	C	A	MISSING				NC_000015.9:g.72104169C>A	(Likely) pathogenic	1 lab	7f35799b83
1:228553251 OBSCN G>A	1	228553251	228553251	G	A	OBSCN	c.21924G>A	NM_001271223.2	NP_001258152.2:p.(Thr7308=)	NC_000001.10:g.228553251G>A	(Likely) benign	1 lab	7f39caeb99
2:131356594 CFC1 C>T	2	131356594	131356594	C	T	CFC1	c.24-62G>A	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131356594C>T	(Likely) benign	1 lab	7f3d8e67d7
1:151397434 POGZ CAT>C	1	151397434	151397436	CAT	C	POGZ	c.1180_1181del	NM_015100.4	NP_055915.2:p.(Met394ValfsTer9)	NC_000001.10:g.151397435_151397436del	(Likely) pathogenic	1 lab	045bd297f7
12:23696204 SOX5 C>T	12	23696204	23696204	C	T	SOX5	c.1712G>A	NM_006940.4	NP_008871.3:p.(Arg571Gln)	NC_000012.11:g.23696204C>T	VUS	1 lab	7f3e5ab45a
X:79945536 BRWD3 A>G	X	79945536	79945536	A	G	BRWD3	c.3658T>C	NM_153252.4	NP_694984.4:p.(Phe1220Leu)	NC_000023.10:g.79945536A>G	VUS	1 lab	7f3fd52c67
17:39023045 KRT12 G>T	17	39023045	39023045	G	T	KRT12	c.394C>A	NM_000223.4	NP_000214.1:p.(Leu132Ile)	NC_000017.10:g.39023045G>T	VUS	1 lab	7f42ab7428
2:202569282 ALS2 G>T	2	202569282	202569282	G	T	ALS2	c.4733C>A	NM_020919.3	NP_065970.2:p.(Thr1578Asn)	NC_000002.11:g.202569282G>T	VUS	1 lab	7f43fcf770
14:95574683 DICER1 A>G	14	95574683	95574683	A	G	DICER1	c.2414T>C	NM_177438.2	NP_803187.1:p.(Leu805Pro)	NC_000014.8:g.95574683A>G	(Likely) pathogenic	1 lab	7f48a8ff4a
1:115226973 AMPD1 C>T	1	115226973	115226973	C	T	AMPD1	c.493G>A	NM_000036.2	NP_000027.2:p.(Asp165Asn)	NC_000001.10:g.115226973C>T	VUS	1 lab	7f49567270
2:109379828 RANBP2 C>T	2	109379828	109379828	C	T	RANBP2	c.2833C>T	NM_006267.5	NP_006258.3:p.(Arg945Cys)	NC_000002.11:g.109379828C>T	VUS	1 lab	7f4a5c9359
7:6027002 PMS2 T>C	7	6027002	6027002	T	C	PMS2	c.1394A>G	NM_000535.5	NP_000526.1:p.(Lys465Arg)	NC_000007.13:g.6027002T>C	(Likely) benign	1 lab	7f4a624d13
2:179659928 TTN C>A	2	179659928	179659928	C	A	TTN	c.966G>T	NM_001267550.2	NP_001254479.2:p.(Arg322Ser)	NC_000002.11:g.179659928C>A	(Likely) benign	1 lab	7f4ab9c025
X:48780946 OTUD5 G>A	X	48780946	48780946	G	A	OTUD5	c.1543C>T	NM_001136157.2	NP_001129629.1:p.(Arg515Trp)	NC_000023.10:g.48780946G>A	(Likely) pathogenic	1 lab	7f4bd10705
1:26139055 SELENON AACACACAC>A	1	26139055	26139097	AACACACAC	A	SELENON	c.1180-88_1180-81del	NM_206926.2	NP_996809.1:p.?	NC_000001.10:g.26139090_26139097del	(Likely) benign	1 lab	0c62acacc6
2:113404341 SLC20A1 A>G	2	113404341	113404341	A	G	SLC20A1	c.-65A>G	NM_005415.5	NP_005406.3:p.?	NC_000002.11:g.113404341A>G	VUS	1 lab	04627a92f6
18:29111218 DSG2 AAG>A	18	29111218	29111226	AAG	A	DSG2	c.1280+10_1280+11del	NM_001943.4	NP_001934.2:p.?	NC_000018.9:g.29111225_29111226del	(Likely) benign	1 lab	7f4de1389b
3:38966923 SCN11A G>A	3	38966923	38966923	G	A	SCN11A	c.695C>T	NM_014139.2	NP_054858.2:p.(Ala232Val)	NC_000003.11:g.38966923G>A	VUS	1 lab	7f4f94dc9d
4:56277949 TMEM165 C>T	4	56277949	56277949	C	T	TMEM165	c.376C>T	NM_018475.4	NP_060945.2:p.(Arg126Cys)	NC_000004.11:g.56277949C>T	(Likely) pathogenic	1 lab	7f51f95dce
16:89611199 SPG7 G>A	16	89611199	89611199	G	A	SPG7	c.1449+19G>A	NM_003119.2	NP_003110.1:p.?	NC_000016.9:g.89611199G>A	(Likely) benign	1 lab	7f57197def
1:237868608 RYR2 C>T	1	237868608	237868608	C	T	RYR2	c.9545C>T	NM_001035.3	NP_001026.2:p.(Ser3182Phe)	NC_000001.10:g.237868608C>T	VUS	1 lab	7f5b076294
3:45530302 LARS2 G>A	3	45530302	45530302	G	A	LARS2	c.1237G>A	NM_015340.3	NP_056155.1:p.(Glu413Lys)	NC_000003.11:g.45530302G>A	(Likely) pathogenic	1 lab	7f5b9efc7c
X:30322840 NR0B1 A>C	X	30322840	30322840	A	C	NR0B1	c.1269T>G	NM_000475.5	NP_000466.2:p.(His423Gln)	NC_000023.10:g.30322840A>C	VUS	1 lab	04638e134f
19:42490272 ATP1A3 G>A	19	42490272	42490272	G	A	ATP1A3	c.467C>T	NM_152296.4	NP_689509.1:p.(Pro156Leu)	NC_000019.9:g.42490272G>A	(Likely) pathogenic	1 lab	7f608eb957
8:143960600 CYP11B1 G>A	8	143960600	143960600	G	A	CYP11B1	c.243C>T	NM_000497.3	NP_000488.3:p.(Tyr81=)	NC_000008.10:g.143960600G>A	(Likely) benign	1 lab	7f66a44fc8
15:43374846 UBR1 T>C	15	43374846	43374846	T	C	UBR1	c.407A>G	NM_174916.3	NP_777576.1:p.(His136Arg)	NC_000015.9:g.43374846T>C	(Likely) pathogenic	1 lab	7f678b1b6b
6:26087689 HFE G>A	6	26087689	26087689	G	A	HFE	c.21G>A	NM_000410.4	NP_000401.1:p.(Pro7=)	NC_000006.11:g.26087689G>A	(Likely) benign	1 lab	7f687f5c0b
2:179485465 TTN CT>C	2	179485465	179485469	CT	C	TTN	c.45871del	NM_001267550.2	NP_001254479.2:p.(Ser15291ValfsTer5)	NC_000002.11:g.179485469del	(Likely) pathogenic	1 lab	0c65de3cde
11:102991711 DYNC2H1 G>T	11	102991711	102991711	G	T	DYNC2H1				NC_000011.9:g.102991711G>T	(Likely) pathogenic	1 lab	7f695513a3
22:21346026 LZTR1 G>C	22	21346026	21346026	G	C	LZTR1	c.901G>C	NM_006767.4	NP_006758.2:p.(Gly301Arg)	NC_000022.10:g.21346026G>C	VUS	1 lab	046e0f2cb2
5:161529330 GABRG2 C>A	5	161529330	161529330	C	A	GABRG2				NC_000005.9:g.161529330C>A	(Likely) benign	1 lab	0dc0f84ab0
11:120980043 TECTA C>T	11	120980043	120980043	C	T	TECTA				NC_000011.9:g.120980043C>T	(Likely) pathogenic	1 lab	818e31cea5
8:48739305 PRKDC G>A	8	48739305	48739305	G	A	PRKDC	c.8695C>T	NM_006904.6	NP_008835.5:p.(Arg2899Cys)	NC_000008.10:g.48739305G>A	(Likely) benign	1 lab	0c66893911
5:40945391 C7 G>A	5	40945391	40945391	G	A	C7	c.659G>A	NM_000587.2	NP_000578.2:p.(Arg220Gln)	NC_000005.9:g.40945391G>A	(Likely) benign	1 lab	0c67f91c3e
14:23869456 MYH6 A>G	14	23869456	23869456	A	G	MYH6	c.1581+9T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23869456A>G	(Likely) benign	1 lab	0c68baf746
3:184043265 EIF4G1 C>T	3	184043265	184043265	C	T	EIF4G1	c.2965-3C>T	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184043265C>T	(Likely) benign	1 lab	04718f5ddf
6:24146061 NRSN1 G>A	6	24146061	24146061	G	A	NRSN1	c.475G>A	NM_080723.4	NP_542454.3:p.(Ala159Thr)	NC_000006.11:g.24146061G>A	VUS	1 lab	7f799914c1
19:50965272 MYBPC2 T>C	19	50965272	50965272	T	C	MYBPC2	c.3207T>C	NM_004533.3	NP_004524.3:p.(Cys1069=)	NC_000019.9:g.50965272T>C	(Likely) benign	1 lab	7f7cca28f4
X:30326773 NR0B1 C>T	X	30326773	30326773	C	T	NR0B1	c.708G>A	NM_000475.4	NP_000466.2:p.(Trp236Ter)	NC_000023.10:g.30326773C>T	(Likely) pathogenic	1 lab	7f7cf173a6
7:117307015 CFTR C>T	7	117307015	117307015	C	T	CFTR	c.4296C>T	NM_000492.4	NP_000483.3:p.(Asn1432=)	NC_000007.13:g.117307015C>T	(Likely) benign	1 lab	7f7e85a72a
3:10142949 FANCD2 C>T	3	10142949	10142949	C	T	FANCD2	c.*3C>T	NM_001319984.2	NP_001306913.1:p.?	NC_000003.11:g.10142949C>T	(Likely) benign	1 lab	04727afdd6
1:24676608 GRHL3 C>T	1	24676608	24676608	C	T	GRHL3				NC_000001.10:g.24676608C>T	(Likely) pathogenic	1 lab	7f81ac1275
17:60678135 MISSING C>G	17	60678135	60678135	C	G	MISSING				NC_000017.10:g.60678135C>G	(Likely) pathogenic	1 lab	7f81f451a3
1:41285602 KCNQ4 G>C	1	41285602	41285602	G	C	KCNQ4				NC_000001.10:g.41285602G>C	(Likely) pathogenic	1 lab	7f845d9efd
17:78157718 CARD14 T>C	17	78157718	78157718	T	C	CARD14	c.356T>C	NM_001366385.1	NP_001353314.1:p.(Met119Thr)	NC_000017.10:g.78157718T>C	(Likely) pathogenic	1 lab	7f853fff82
2:179606516 TTN T>G	2	179606516	179606516	T	G	TTN	c.11444A>C	NM_001267550.2	NP_001254479.2:p.(Lys3815Thr)	NC_000002.11:g.179606516T>G	(Likely) benign	1 lab	7f8588581a
13:32953603 BRCA2 C>T	13	32953603	32953603	C	T	BRCA2	c.8904C>T	NM_000059.3	NP_000050.2:p.(Thr2968=)	NC_000013.10:g.32953603C>T	(Likely) benign	1 lab	7f8718824e
5:73992565 HEXB G>C	5	73992565	73992565	G	C	HEXB	c.558+1G>C	NM_000521.3	NP_000512.1:p.?	NC_000005.9:g.73992565G>C	(Likely) pathogenic	1 lab	7f87885d1a
10:97413164 ALDH18A1 T>C	10	97413164	97413164	T	C	ALDH18A1	c.-28-2A>G	NM_002860.3	NP_002851.2:p.?	NC_000010.10:g.97413164T>C	VUS	1 lab	7f8f48e18a
11:118969174 DPAGT1 A>C	11	118969174	118969174	A	C	DPAGT1	c.667T>G	NM_001382.3	NP_001373.2:p.(Phe223Val)	NC_000011.9:g.118969174A>C	VUS	1 lab	7f93783246
X:32536165 DMD C>T	X	32536165	32536165	C	T	DMD	c.2252G>A	NM_004006.2	NP_003997.1:p.(Arg751Gln)	NC_000023.10:g.32536165C>T	VUS	1 lab	7f9463cbfa
9:131708583 DOLK T>A	9	131708583	131708583	T	A	DOLK	c.1000A>T	NM_014908.3	NP_055723.1:p.(Thr334Ser)	NC_000009.11:g.131708583T>A	VUS	1 lab	7f94e7740c
9:130932396 CIZ1 AAC>A	9	130932396	130932399	AAC	A	CIZ1	c.2034-12_2034-11del	NM_001257975.2	NP_001244904.1:p.?	NC_000009.11:g.130932398_130932399del	(Likely) benign	1 lab	0478b6080f
1:216498754 USH2A T>G	1	216498754	216498754	T	G	USH2A	c.1036A>C	NM_206933.4	NP_996816.3:p.(Asn346His)	NC_000001.10:g.216498754T>G	(Likely) pathogenic	1 lab	7f98e66d15
20:49510143 ADNP GT>G	20	49510143	49510144	GT	G	ADNP				NC_000020.10:g.49510144del	(Likely) pathogenic	1 lab	7f9a2d01d6
5:112175696 APC C>T	5	112175696	112175696	C	T	APC	c.4405C>T	NM_000038.5	NP_000029.2:p.(Gln1469Ter)	NC_000005.9:g.112175696C>T	(Likely) pathogenic	1 lab	7f9f150b41
18:48581261 SMAD4 C>T	18	48581261	48581261	C	T	SMAD4	c.565C>T	NM_005359.5	NP_005350.1:p.(Arg189Cys)	NC_000018.9:g.48581261C>T	(Likely) benign	1 lab	7f9fb81326
14:100743908 YY1 A>G	14	100743908	100743908	A	G	YY1	c.1216A>G	NM_003403.5	NP_003394.1:p.(Thr406Ala)	NC_000014.8:g.100743908A>G	(Likely) pathogenic	1 lab	7fa0b78290
1:94486939 ABCA4 A>T	1	94486939	94486939	A	T	ABCA4	c.4875T>A	NM_000350.2	NP_000341.2:p.(His1625Gln)	NC_000001.10:g.94486939A>T	VUS	1 lab	7fa10ba198
2:179582889 TTN T>C	2	179582889	179582889	T	C	TTN	c.23893A>G	NM_001256850.1	NP_001243779.1:p.(Thr7965Ala)	NC_000002.11:g.179582889T>C	VUS	1 lab	047c39954e
8:68397027 CPA6 A>G	8	68397027	68397027	A	G	CPA6	c.637-3T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68397027A>G	(Likely) benign	1 lab	0c6b070706
X:153608124 EMD T>G	X	153608124	153608124	T	G	EMD	c.157T>G	NM_000117.2	NP_000108.1:p.(Ser53Ala)	NC_000023.10:g.153608124T>G	VUS	1 lab	7fa4b5369b
18:55335786 ATP8B1 T>TAAAAAAA	18	55335786	55335802	T	TAAAAAAA	ATP8B1	c.2098-21_2098-15dup	NM_005603.6	NP_005594.2:p.?	NC_000018.9:g.55335796_55335802dup	(Likely) benign	1 lab	0c6cc3c7cb
14:102461384 DYNC1H1 G>T	14	102461384	102461384	G	T	DYNC1H1	c.3395G>T	NM_001376.4	NP_001367.2:p.(Gly1132Val)	NC_000014.8:g.102461384G>T	VUS	1 lab	7fa62f2760
9:98231084 PTCH1 TGA>T	9	98231084	98231089	TGA	T	PTCH1	c.2197_2198del	NM_000264.3	NP_000255.2:p.(Ser733IlefsTer4)	NC_000009.11:g.98231088_98231089del	(Likely) pathogenic	1 lab	7fa7562d63
16:85706054 GSE1 G>A	16	85706054	85706054	G	A	GSE1	c.3563G>A	NM_014615.3	NP_055430.1:p.(Arg1188Gln)	NC_000016.9:g.85706054G>A	VUS	1 lab	7fa7c19cf6
11:118039439 SCN2B G>A	11	118039439	118039439	G	A	SCN2B	c.98C>T	NM_004588.4	NP_004579.1:p.(Thr33Ile)	NC_000011.9:g.118039439G>A	(Likely) benign	1 lab	7fa958f4e8
13:20763565 GJB2 G>A	13	20763565	20763565	G	A	GJB2	c.156C>T	NM_004004.5	NP_003995.2:p.(Val52=)	NC_000013.10:g.20763565G>A	(Likely) benign	1 lab	7fac5dc294
19:18979684 GDF1 A>C	19	18979684	18979684	A	C	GDF1	c.841T>G	NM_001492.5	NP_001483.3:p.(Trp281Gly)	NC_000019.9:g.18979684A>C	(Likely) pathogenic	1 lab	7fadd15697
12:6135191 VWF C>T	12	6135191	6135191	C	T	VWF	c.2989G>A	NM_000552.3	NP_000543.2:p.(Gly997Arg)	NC_000012.11:g.6135191C>T	(Likely) pathogenic	1 lab	7fb5728fe4
X:23411014 PTCHD1 T>C	X	23411014	23411014	T	C	PTCHD1	c.1379T>C	NM_173495.3	NP_775766.2:p.(Leu460Pro)	NC_000023.10:g.23411014T>C	VUS	1 lab	047d2abbd0
2:241537421 CAPN10 G>A	2	241537421	241537421	G	A	CAPN10	c.1860G>A	NM_023083.4	NP_075571.2:p.(Ala620=)	NC_000002.11:g.241537421G>A	(Likely) benign	1 lab	047ea762b1
7:128483359 FLNC GGCTGAATC>G	7	128483359	128483369	GGCTGAATC	G	FLNC	c.2630_2637del	NM_001458.4	NP_001449.3:p.(Leu877HisfsTer40)	NC_000007.13:g.128483362_128483369del	(Likely) pathogenic	1 lab	7fbda2240a
19:50779460 MYH14 G>A	19	50779460	50779460	G	A	MYH14	c.3680G>A	NM_001145809.2	NP_001139281.1:p.(Arg1227Gln)	NC_000019.9:g.50779460G>A	(Likely) benign	1 lab	7fc04e6e34
2:47643482 MSH2 GAATAAGTGTA>G	2	47643482	47643494	GAATAAGTGTA	G	MSH2	c.993_1002del	NM_000251.2	NP_000242.1:p.(Asn331LysfsTer23)	NC_000002.11:g.47643485_47643494del	(Likely) pathogenic	1 lab	7fc100d80f
X:84526712 ZNF711 C>T	X	84526712	84526712	C	T	ZNF711	c.2302C>T	NM_001330574.2	NP_001317503.1:p.(His768Tyr)	NC_000023.10:g.84526712C>T	(Likely) pathogenic	1 lab	7fc6f5ede1
4:184589174 TRAPPC11 C>T	4	184589174	184589174	C	T	TRAPPC11	c.464C>T	NM_021942.5	NP_068761.4:p.(Ser155Leu)	NC_000004.11:g.184589174C>T	VUS	1 lab	7fc9edacce
X:22095626 PHEX C>CT	X	22095626	22095627	C	CT	PHEX	c.470dup	NM_000444.5	NP_000435.3:p.(His158ThrfsTer14)	NC_000023.10:g.22095627dup	(Likely) pathogenic	1 lab	7fcbf1d55c
1:168074103 GPR161 G>A	1	168074103	168074103	G	A	GPR161	c.46C>T	NM_001267609.1	NP_001254538.1:p.(Arg16Ter)	NC_000001.10:g.168074103G>A	(Likely) pathogenic	1 lab	7fcc54bd2e
2:179578838 TTN C>T	2	179578838	179578838	C	T	TTN	c.26547G>A	NM_001267550.2	NP_001254479.2:p.(Leu8849=)	NC_000002.11:g.179578838C>T	(Likely) benign	1 lab	7fccbf4756
11:67817722 TCIRG1 G>A	11	67817722	67817722	G	A	TCIRG1	c.2236+1G>A	NM_006019.3	NP_006010.2:p.?	NC_000011.9:g.67817722G>A	(Likely) pathogenic	1 lab	7fcd708d33
7:80303328 CD36 C>CATGTTCA	7	80303328	80303335	C	CATGTTCA	CD36				NC_000007.13:g.80303329_80303335dup	(Likely) pathogenic	1 lab	7fce74c7e3
X:107865895 COL4A5 A>G	X	107865895	107865895	A	G	COL4A5	c.2768-11A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107865895A>G	(Likely) benign	1 lab	7fcea7eb81
16:16263497 ABCC6 G>A	16	16263497	16263497	G	A	ABCC6	c.2995+6C>T	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16263497G>A	(Likely) benign	1 lab	7fd0b74acc
17:73753651 ITGB4 A>C	17	73753651	73753651	A	C	ITGB4	c.*15A>C	NM_000213.5	NP_000204.3:p.?	NC_000017.10:g.73753651A>C	(Likely) benign	1 lab	047ef2bbda
13:32893419 BRCA2 C>A	13	32893419	32893419	C	A	BRCA2	c.273C>A	NM_000059.4	NP_000050.3:p.(Tyr91Ter)	NC_000013.10:g.32893419C>A	(Likely) pathogenic	1 lab	048072cafe
20:34078611 CEP250 CAG>C	20	34078611	34078617	CAG	C	CEP250	c.2740_2741del	NM_007186.5	NP_009117.2:p.(Ser914CysfsTer76)	NC_000020.10:g.34078616_34078617del	VUS	1 lab	7fd39dd5ae
11:123524458 SCN3B A>C	11	123524458	123524458	A	C	SCN3B	c.52T>G	NM_018400.3	NP_060870.1:p.(Trp18Gly)	NC_000011.9:g.123524458A>C	VUS	1 lab	7fd3f23f41
1:103387100 COL11A1 C>G	1	103387100	103387100	C	G	COL11A1	c.3682G>C	NM_001854.3	NP_001845.3:p.(Gly1228Arg)	NC_000001.10:g.103387100C>G	VUS	1 lab	7fd4338dee
3:52436881 BAP1 G>A	3	52436881	52436881	G	A	BAP1	c.1897C>T	NM_004656.3	NP_004647.1:p.(Leu633=)	NC_000003.11:g.52436881G>A	(Likely) benign	1 lab	7fd8b85296
3:37067183 MLH1 G>A	3	37067183	37067183	G	A	MLH1	c.1094G>A	NM_000249.3	NP_000240.1:p.(Ser365Asn)	NC_000003.11:g.37067183G>A	(Likely) benign	1 lab	7fd8df9745
17:7923432 GUCY2D G>A	17	7923432	7923432	G	A	GUCY2D	c.*25-14G>A	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7923432G>A	(Likely) benign	1 lab	7fd9606c24
5:6623335 NSUN2 G>A	5	6623335	6623335	G	A	NSUN2	c.529C>T	NM_017755.5	NP_060225.4:p.(His177Tyr)	NC_000005.9:g.6623335G>A	VUS	1 lab	7fd9de95e7
6:32006259 CYP21A2 G>A	6	32006259	32006259	G	A	CYP21A2	c.60G>A	NM_000500.7	NP_000491.4:p.(Trp20Ter)	NC_000006.11:g.32006259G>A	(Likely) pathogenic	1 lab	7fdc118b98
12:80900425 MISSING A>G	12	80900425	80900425	A	G	MISSING				NC_000012.11:g.80900425A>G	VUS	1 lab	81f8956c0d
2:29294718 PCARE T>C	2	29294718	29294718	T	C	PCARE	c.2410A>G	NM_001029883.3	NP_001025054.1:p.(Ile804Val)	NC_000002.11:g.29294718T>C	VUS	1 lab	7fdd1109b1
17:59816666 BRIP1 C>T	17	59816666	59816666	C	T	BRIP1	c.2379+3708G>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59816666C>T	(Likely) benign	1 lab	7fdd1fa8bf
14:23888387 MYH7 T>C	14	23888387	23888387	T	C	MYH7	c.3971A>G	NM_000257.3	NP_000248.2:p.(Lys1324Arg)	NC_000014.8:g.23888387T>C	VUS	1 lab	7fdf0d628a
5:34930033 DNAJC21 T>G	5	34930033	34930033	T	G	DNAJC21	c.97+12T>G	NM_001012339.3	NP_001012339.2:p.?	NC_000005.9:g.34930033T>G	(Likely) benign	1 lab	0c73295f7f
5:54528388 CCNO G>C	5	54528388	54528388	G	C	CCNO	c.382-14C>G	NM_021147.3	NP_066970.3:p.?	NC_000005.9:g.54528388G>C	(Likely) benign	1 lab	7fe47c4fd4
3:15807807 ANKRD28 G>A	3	15807807	15807807	G	A	ANKRD28	c.214C>T	NM_001349278.2	NP_001336207.1:p.(Arg72Ter)	NC_000003.11:g.15807807G>A	(Likely) benign	1 lab	7fe94d00bd
1:41283890 KCNQ4 G>A	1	41283890	41283890	G	A	KCNQ4	c.460G>A	NM_004700.3	NP_004691.2:p.(Ala154Thr)	NC_000001.10:g.41283890G>A	VUS	1 lab	7feefabb3d
2:165948961 SCN3A C>T	2	165948961	165948961	C	T	SCN3A	c.4610G>A	NM_006922.4	NP_008853.3:p.(Cys1537Tyr)	NC_000002.11:g.165948961C>T	VUS	1 lab	7ff0bb1ee7
2:109382726 RANBP2 A>G	2	109382726	109382726	A	G	RANBP2	c.5731A>G	NM_006267.4	NP_006258.3:p.(Lys1911Glu)	NC_000002.11:g.109382726A>G	(Likely) benign	1 lab	0c73bd240e
10:69881333 MYPN T>C	10	69881333	69881333	T	C	MYPN	c.138T>C	NM_032578.3	NP_115967.2:p.(Ser46=)	NC_000010.10:g.69881333T>C	(Likely) benign	1 lab	7ff519e19e
17:41244369 BRCA1 T>G	17	41244369	41244369	T	G	BRCA1	c.3179A>C	NM_007294.3	NP_009225.1:p.(Glu1060Ala)	NC_000017.10:g.41244369T>G	(Likely) benign	1 lab	7ff8e085d5
3:183888015 DVL3 G>A	3	183888015	183888015	G	A	DVL3	c.1714+6G>A	NM_004423.3	NP_004414.3:p.?	NC_000003.11:g.183888015G>A	(Likely) benign	1 lab	7ff9fdf3bd
X:70330387 IL2RG G>A	X	70330387	70330387	G	A	IL2RG	c.421C>T	NM_000206.3	NP_000197.1:p.(Gln141Ter)	NC_000023.10:g.70330387G>A	(Likely) pathogenic	1 lab	7ffe737489
5:149652711 CAMK2A G>A	5	149652711	149652711	G	A	CAMK2A	c.74C>T	NM_015981.4	NP_057065.2:p.(Ser25Leu)	NC_000005.9:g.149652711G>A	(Likely) pathogenic	1 lab	7fffa4dea9
9:117783449 TNC C>T	9	117783449	117783449	C	T	TNC	c.6593G>A	NM_002160.3	NP_002151.2:p.(Arg2198His)	NC_000009.11:g.117783449C>T	VUS	1 lab	800459383e
8:41555740 ANK1 A>G	8	41555740	41555740	A	G	ANK1	c.2682-101T>C	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41555740A>G	(Likely) benign	1 lab	0c7d18f634
X:32662426 DMD T>A	X	32662426	32662426	T	A	DMD	c.1154A>T	NM_004006.2	NP_003997.1:p.(Tyr385Phe)	NC_000023.10:g.32662426T>A	(Likely) benign	1 lab	8005c37a95
11:22291922 ANO5 T>C	11	22291922	22291922	T	C	ANO5	c.1963T>C	NM_213599.3	NP_998764.1:p.(Trp655Arg)	NC_000011.9:g.22291922T>C	(Likely) pathogenic	1 lab	80066408ee
14:23858139 MYH6 C>T	14	23858139	23858139	C	T	MYH6	c.4104G>A	NM_002471.3	NP_002462.2:p.(Ser1368=)	NC_000014.8:g.23858139C>T	(Likely) benign	1 lab	800d35eba9
19:8467465 RAB11B A>C	19	8467465	8467465	A	C	RAB11B	c.511+16A>C	NM_004218.4	NP_004209.2:p.?	NC_000019.9:g.8467465A>C	VUS	1 lab	800d46df83
6:119234553 MCM9 G>A	6	119234553	119234553	G	A	MCM9	c.937C>T	NM_017696.3	NP_060166.2:p.(Gln313Ter)	NC_000006.11:g.119234553G>A	(Likely) pathogenic	1 lab	80109430b8
21:47552624 COL6A2 C>T	21	47552624	47552624	C	T	COL6A2	c.*158C>T	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47552624C>T	(Likely) benign	1 lab	8010e7994f
3:38936198 SCN11A C>T	3	38936198	38936198	C	T	SCN11A	c.2661G>A	NM_014139.2	NP_054858.2:p.(Met887Ile)	NC_000003.11:g.38936198C>T	(Likely) benign	1 lab	80111648fa
2:162275419 TBR1 C>T	2	162275419	162275419	C	T	TBR1	c.986C>T	NM_006593.3	NP_006584.1:p.(Ser329Phe)	NC_000002.11:g.162275419C>T	(Likely) pathogenic	1 lab	8011fa6831
2:219757809 WNT10A C>T	2	219757809	219757809	C	T	WNT10A	c.1070C>T	NM_025216.2	NP_079492.2:p.(Thr357Ile)	NC_000002.11:g.219757809C>T	(Likely) pathogenic	1 lab	80124f132b
10:88485920 LDB3 T>G	10	88485920	88485920	T	G	LDB3	c.2005T>G	NM_007078.2	NP_009009.1:p.(Cys669Gly)	NC_000010.10:g.88485920T>G	VUS	1 lab	801259622a
13:40256398 COG6 A>G	13	40256398	40256398	A	G	COG6	c.785A>G	NM_020751.3	NP_065802.1:p.(Tyr262Cys)	NC_000013.10:g.40256398A>G	(Likely) pathogenic	1 lab	0c7d26d4df
11:121016577 TECTA C>T	11	121016577	121016577	C	T	TECTA	c.3857C>T	NM_005422.4	NP_005413.2:p.(Pro1286Leu)	NC_000011.9:g.121016577C>T	VUS	1 lab	80174e3d43
10:104120139 GBF1 G>A	10	104120139	104120139	G	A	GBF1	c.1376G>A	NM_004193.3	NP_004184.1:p.(Arg459His)	NC_000010.10:g.104120139G>A	VUS	1 lab	801815f344
X:31241242 DMD A>G	X	31241242	31241242	A	G	DMD	c.9287-4T>C	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31241242A>G	(Likely) benign	1 lab	80192a4c4e
1:236645609 EDARADD C>T	1	236645609	236645609	C	T	EDARADD	c.278C>T	NM_080738.4	NP_542776.1:p.(Ser93Phe)	NC_000001.10:g.236645609C>T	(Likely) benign	1 lab	049603d238
6:152658069 SYNE1 G>A	6	152658069	152658069	G	A	SYNE1	c.12435C>T	NM_182961.3	NP_892006.3:p.(Tyr4145=)	NC_000006.11:g.152658069G>A	(Likely) benign	1 lab	801aec6838
17:80887359 TBCD G>A	17	80887359	80887359	G	A	TBCD	c.2974G>A	NM_005993.5	NP_005984.3:p.(Gly992Ser)	NC_000017.10:g.80887359G>A	VUS	1 lab	801e57d828
5:231109 SDHA C>T	5	231109	231109	C	T	SDHA	c.889C>T	NM_004168.2	NP_004159.2:p.(Pro297Ser)	NC_000005.9:g.231109C>T	VUS	1 lab	80223441c6
2:179411848 TTN G>C	2	179411848	179411848	G	C	TTN	c.94404C>G	NM_001267550.2	NP_001254479.2:p.(Tyr31468Ter)	NC_000002.11:g.179411848G>C	(Likely) pathogenic	1 lab	802635b887
3:8787639 CAV3 G>A	3	8787639	8787639	G	A	CAV3	c.*86G>A	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8787639G>A	VUS	1 lab	82eefba0f4
6:26157025 H1-4 A>AG	6	26157025	26157026	A	AG	H1-4	c.408dup	NM_005321.3	NP_005312.1:p.(Lys137GlufsTer59)	NC_000006.11:g.26157026dup	(Likely) pathogenic	1 lab	802d058034
13:32930819 BRCA2 A>G	13	32930819	32930819	A	G	BRCA2	c.7617+73A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32930819A>G	(Likely) benign	1 lab	80304107b0
17:7096822 DLG4 T>C	17	7096822	7096822	T	C	DLG4	c.1673A>G	NM_001321075.3	NP_001308004.1:p.(Lys558Arg)	NC_000017.10:g.7096822T>C	VUS	1 lab	8034bbcbba
8:55542403 RP1 T>TA	8	55542403	55542404	T	TA	RP1	c.5962dup	NM_006269.2	NP_006260.1:p.(Ile1988AsnfsTer3)	NC_000008.10:g.55542404dup	(Likely) pathogenic	1 lab	8035abd6f4
8:61777573 CHD7 A>G	8	61777573	61777573	A	G	CHD7				NC_000008.10:g.61777573A>G	(Likely) pathogenic	1 lab	803876ebdc
1:165182957 LMX1A C>T	1	165182957	165182957	C	T	LMX1A	c.590G>A	NM_177398.4	NP_796372.1:p.(Arg197His)	NC_000001.10:g.165182957C>T	VUS	1 lab	80395affb5
1:171086418 FMO3 T>C	1	171086418	171086418	T	C	FMO3	c.1435T>C	NM_001002294.2	NP_001002294.1:p.(Trp479Arg)	NC_000001.10:g.171086418T>C	VUS	1 lab	80396bac5a
14:77743644 POMT2 G>A	14	77743644	77743644	G	A	POMT2	c.*75C>T	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77743644G>A	(Likely) benign	1 lab	803998e48b
7:65546907 ASL G>A	7	65546907	65546907	G	A	ASL	c.130G>A	NM_000048.4	NP_000039.2:p.(Ala44Thr)	NC_000007.13:g.65546907G>A	VUS	1 lab	803c9b1ff4
18:44143153 LOXHD1 C>T	18	44143153	44143153	C	T	LOXHD1	c.2473G>A	NM_144612.6	NP_653213.6:p.(Val825Met)	NC_000018.9:g.44143153C>T	(Likely) benign	1 lab	803ed15fce
11:108186656 ATM A>G	11	108186656	108186656	A	G	ATM	c.6095+18A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108186656A>G	(Likely) benign	1 lab	803f0fd308
17:79479141 ACTG1 C>T	17	79479141	79479141	C	T	ACTG1	c.151G>A	NM_001614.3	NP_001605.1:p.(Asp51Asn)	NC_000017.10:g.79479141C>T	(Likely) pathogenic	1 lab	804038f731
1:94578567 ABCA4 C>T	1	94578567	94578567	C	T	ABCA4	c.122G>A	NM_000350.2	NP_000341.2:p.(Trp41Ter)	NC_000001.10:g.94578567C>T	(Likely) pathogenic	1 lab	8043fa9f4b
4:79391036 FRAS1 T>C	4	79391036	79391036	T	C	FRAS1	c.7258-96T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391036T>C	(Likely) benign	1 lab	0c7da94616
3:149589903 RNF13 G>C	3	149589903	149589903	G	C	RNF13	c.283G>C	NM_007282.4	NP_009213.1:p.(Val95Leu)	NC_000003.11:g.149589903G>C	(Likely) benign	1 lab	049ae98cdc
12:112888158 PTPN11 C>A	12	112888158	112888158	C	A	PTPN11	c.174C>A	NM_002834.3	NP_002825.3:p.(Asn58Lys)	NC_000012.11:g.112888158C>A	(Likely) pathogenic	1 lab	804f6ceb91
14:105174767 INF2 C>T	14	105174767	105174767	C	T	INF2	c.1736-6C>T	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105174767C>T	(Likely) benign	1 lab	0c7e24579d
X:107814607 COL4A5 T>G	X	107814607	107814607	T	G	COL4A5	c.385-36T>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107814607T>G	(Likely) benign	1 lab	8055502b32
7:73456975 ELN G>A	7	73456975	73456975	G	A	ELN	c.264G>A	NM_001278939.1	NP_001265868.1:p.(Pro88=)	NC_000007.13:g.73456975G>A	(Likely) benign	1 lab	8055db724e
2:25470546 DNMT3A T>A	2	25470546	25470546	T	A	DNMT3A	c.928A>T	NM_022552.4	NP_072046.2:p.(Ile310Phe)	NC_000002.11:g.25470546T>A	(Likely) pathogenic	1 lab	805822d720
10:85973091 CDHR1 T>A	10	85973091	85973091	T	A	CDHR1	c.2027T>A	NM_033100.3	NP_149091.1:p.(Ile676Asn)	NC_000010.10:g.85973091T>A	VUS	1 lab	8058a55e4c
5:89914939 ADGRV1 AC>A	5	89914939	89914940	AC	A	ADGRV1	c.395del	NM_032119.4	NP_115495.3:p.(Thr132MetfsTer4)	NC_000005.9:g.89914940del	(Likely) pathogenic	1 lab	805a7342d0
2:240274399 HDAC4 A>T	2	240274399	240274399	A	T	HDAC4	c.-5T>A	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240274399A>T	VUS	1 lab	805f4fc932
11:86666078 FZD4 ACGCCCCCGGG>A	11	86666078	86666098	ACGCCCCCGGG	A	FZD4				NC_000011.9:g.86666089_86666098del	(Likely) pathogenic	1 lab	805fb91962
3:9986104 CRELD1 G>A	3	9986104	9986104	G	A	CRELD1	c.*29G>A	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9986104G>A	(Likely) benign	1 lab	8060732ed9
11:76870546 MYO7A G>T	11	76870546	76870546	G	T	MYO7A	c.1057G>T	NM_000260.4	NP_000251.3:p.(Ala353Ser)	NC_000011.9:g.76870546G>T	VUS	1 lab	806745dcd3
10:26310470 MYO3A C>T	10	26310470	26310470	C	T	MYO3A	c.624C>T	NM_017433.4	NP_059129.3:p.(Asp208=)	NC_000010.10:g.26310470C>T	(Likely) benign	1 lab	8069bf436c
11:103022911 DYNC2H1 G>A	11	103022911	103022911	G	A	DYNC2H1	c.2993G>A	NM_001080463.1	NP_001073932.1:p.(Arg998Gln)	NC_000011.9:g.103022911G>A	VUS	1 lab	806b75a148
2:96919489 TMEM127 G>A	2	96919489	96919489	G	A	TMEM127	c.*57C>T	NM_017849.3	NP_060319.1:p.?	NC_000002.11:g.96919489G>A	(Likely) benign	1 lab	806fb66d07
11:108119908 ATM C>G	11	108119908	108119908	C	G	ATM	c.1235+79C>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108119908C>G	(Likely) benign	1 lab	807948932c
14:23900999 MYH7 G>A	14	23900999	23900999	G	A	MYH7	c.610C>T	NM_000257.4	NP_000248.2:p.(Arg204Cys)	NC_000014.8:g.23900999G>A	(Likely) pathogenic	1 lab	8082052358
4:3521939 LRPAP1 T>A	4	3521939	3521939	T	A	LRPAP1				NC_000004.11:g.3521939T>A	(Likely) benign	1 lab	8085bb32f1
9:98229479 PTCH1 T>C	9	98229479	98229479	T	C	PTCH1	c.2479A>G	NM_000264.3	NP_000255.2:p.(Ser827Gly)	NC_000009.11:g.98229479T>C	(Likely) benign	1 lab	8087293fc3
16:23619178 PALB2 C>A	16	23619178	23619178	C	A	PALB2	c.3350+7G>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23619178C>A	(Likely) benign	1 lab	808f1acdec
22:21345967 LZTR1 C>T	22	21345967	21345967	C	T	LZTR1	c.842C>T	NM_006767.3	NP_006758.2:p.(Pro281Leu)	NC_000022.10:g.21345967C>T	VUS	1 lab	808ff96f7d
1:215847776 USH2A G>A	1	215847776	215847776	G	A	USH2A	c.13477C>T	NM_206933.2	NP_996816.2:p.(Arg4493Cys)	NC_000001.10:g.215847776G>A	VUS	1 lab	80992480e6
11:76853754 MYO7A G>A	11	76853754	76853754	G	A	MYO7A	c.19-1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76853754G>A	(Likely) pathogenic	1 lab	809b8d86bb
2:121726308 GLI2 C>T	2	121726308	121726308	C	T	GLI2	c.662C>T	NM_005270.4	NP_005261.2:p.(Pro221Leu)	NC_000002.11:g.121726308C>T	(Likely) pathogenic	1 lab	809bb259b3
12:89891041 POC1B T>C	12	89891041	89891041	T	C	POC1B	c.179A>G	NM_172240.2	NP_758440.1:p.(Lys60Arg)	NC_000012.11:g.89891041T>C	VUS	1 lab	809c886ff9
22:29091713 CHEK2 A>T	22	29091713	29091713	A	T	CHEK2	c.1244T>A	NM_007194.3	NP_009125.1:p.(Val415Asp)	NC_000022.10:g.29091713A>T	VUS	1 lab	809da81aae
17:56809884 RAD51C C>T	17	56809884	56809884	C	T	RAD51C				NC_000017.10:g.56809884C>T	(Likely) benign	1 lab	809e083628
9:109736515 ZNF462 T>TA	9	109736515	109736516	T	TA	ZNF462	c.6794dup	NM_021224.5	NP_067047.4:p.(Tyr2265Ter)	NC_000009.11:g.109736516dup	VUS	1 lab	80a0101fcf
2:219754966 WNT10A G>A	2	219754966	219754966	G	A	WNT10A	c.637G>A	NM_025216.2	NP_079492.2:p.(Gly213Ser)	NC_000002.11:g.219754966G>A	(Likely) pathogenic	1 lab	80a2b5ae31
15:23890648 MAGEL2 CT>C	15	23890648	23890652	CT	C	MAGEL2	c.2241del	NM_019066.4	NP_061939.3:p.(Asp748ThrfsTer3)	NC_000015.9:g.23890652del	(Likely) pathogenic	1 lab	80a3d5d84c
9:37424939 GRHPR G>A	9	37424939	37424939	G	A	GRHPR	c.181G>A	NM_012203.1	NP_036335.1:p.(Asp61Asn)	NC_000009.11:g.37424939G>A	VUS	1 lab	80a40b5b3a
14:23900605 MYH7 C>A	14	23900605	23900605	C	A	MYH7	c.796+22G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900605C>A	(Likely) benign	1 lab	80a5359ebe
9:2729445 KCNV2 G>C	9	2729445	2729445	G	C	KCNV2	c.1357-1G>C	NM_133497.4	NP_598004.1:p.?	NC_000009.11:g.2729445G>C	(Likely) pathogenic	1 lab	80a56836e1
4:110884319 EGF G>T	4	110884319	110884319	G	T	EGF	c.1313-10G>T	NM_001963.4	NP_001954.2:p.?	NC_000004.11:g.110884319G>T	(Likely) benign	1 lab	80a7dfe905
8:65711004 CYP7B1 T>A	8	65711004	65711004	T	A	CYP7B1	c.122+19A>T	NM_004820.3	NP_004811.1:p.?	NC_000008.10:g.65711004T>A	(Likely) benign	1 lab	80a8ef7690
1:109482664 CLCC1 T>C	1	109482664	109482664	T	C	CLCC1	c.744+3A>G	NM_015127.5	NP_055942.1:p.?	NC_000001.10:g.109482664T>C	VUS	1 lab	80ce736bb2
14:101321193 MEG3 G>A	14	101321193	101321193	G	A	MEG3	n.1260-5835G>A	NR_002766.2		NC_000014.8:g.101321193G>A	VUS	1 lab	04aa5b072b
9:34512333 DNAI1 A>G	9	34512333	34512333	A	G	DNAI1	c.1402-2A>G	NM_012144.4	NP_036276.1:p.?	NC_000009.11:g.34512333A>G	(Likely) pathogenic	1 lab	80b815e9cf
2:47690212 MSH2 A>C	2	47690212	47690212	A	C	MSH2	c.1429A>C	NM_000251.2	NP_000242.1:p.(Asn477His)	NC_000002.11:g.47690212A>C	(Likely) benign	1 lab	80b8bfef22
1:201869033 LMOD1 G>A	1	201869033	201869033	G	A	LMOD1	c.1108C>T	NM_012134.3	NP_036266.2:p.(Arg370Ter)	NC_000001.10:g.201869033G>A	VUS	1 lab	04ad5605d7
2:1926742 MYT1L GT>G	2	1926742	1926745	GT	G	MYT1L	c.798del	NM_001329844.1	NP_001316773.1:p.(Lys266AsnfsTer3)	NC_000002.11:g.1926745del	(Likely) pathogenic	1 lab	80ba1d3127
X:32380969 DMD T>G	X	32380969	32380969	T	G	DMD	c.5261A>C	NM_004006.2	NP_003997.1:p.(Glu1754Ala)	NC_000023.10:g.32380969T>G	VUS	1 lab	80bdddeb20
X:44913148 KDM6A A>G	X	44913148	44913148	A	G	KDM6A	c.823A>G	NM_021140.2	NP_066963.2:p.(Lys275Glu)	NC_000023.10:g.44913148A>G	(Likely) benign	1 lab	80c0d354c9
9:5123121 JAK2 G>A	9	5123121	5123121	G	A	JAK2	c.3177G>A	NM_004972.4	NP_004963.1:p.(Ala1059=)	NC_000009.11:g.5123121G>A	VUS	1 lab	80c45298a8
3:38598033 SCN5A T>A	3	38598033	38598033	T	A	SCN5A	c.4336A>T	NM_198056.2	NP_932173.1:p.(Met1446Leu)	NC_000003.11:g.38598033T>A	VUS	1 lab	80c663588e
19:38985208 RYR1 C>T	19	38985208	38985208	C	T	RYR1	c.6491C>T	NM_000540.2	NP_000531.2:p.(Ser2164Leu)	NC_000019.9:g.38985208C>T	VUS	1 lab	80c7315533
3:121518107 IQCB1 TAG>T	3	121518107	121518109	TAG	T	IQCB1	c.700_701del	NM_001023570.3	NP_001018864.2:p.(Leu234ThrfsTer5)	NC_000003.11:g.121518108_121518109del	(Likely) pathogenic	1 lab	80d02ac5bf
1:155327510 ASH1L G>A	1	155327510	155327510	G	A	ASH1L	c.6826C>T	NM_018489.3	NP_060959.2:p.(Arg2276Ter)	NC_000001.10:g.155327510G>A	(Likely) pathogenic	1 lab	80d2199215
1:94481812 ABCA4 C>A	1	94481812	94481812	C	A	ABCA4	c.5197-402G>T	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94481812C>A	(Likely) benign	1 lab	80d43ed6d8
4:123663716 BBS12 T>TA	4	123663716	123663717	T	TA	BBS12	c.670dup	NM_152618.2	NP_689831.2:p.(Thr224AsnfsTer12)	NC_000004.11:g.123663717dup	(Likely) pathogenic	1 lab	80db3cf828
1:228503802 OBSCN G>A	1	228503802	228503802	G	A	OBSCN	c.13267G>A	NM_001098623.2	NP_001092093.2:p.(Ala4423Thr)	NC_000001.10:g.228503802G>A	VUS	1 lab	80dd0d65bd
1:67091594 SGIP1 G>A	1	67091594	67091594	G	A	SGIP1	c.74+1G>A	NM_032291.3	NP_115667.2:p.?	NC_000001.10:g.67091594G>A	(Likely) pathogenic	1 lab	80e0c29134
4:74124142 ANKRD17 G>A	4	74124142	74124142	G	A	ANKRD17	c.244C>T	NM_015574.2	NP_056389.1:p.(Pro82Ser)	NC_000004.11:g.74124142G>A	VUS	1 lab	04b10ec199
6:112450189 LAMA4 G>A	6	112450189	112450189	G	A	LAMA4	c.4222C>T	NM_001105206.3	NP_001098676.2:p.(Pro1408Ser)	NC_000006.11:g.112450189G>A	VUS	1 lab	04b186c7d8
11:17650726 OTOG G>T	11	17650726	17650726	G	T	OTOG	c.6611G>T	NM_001277269.1	NP_001264198.1:p.(Gly2204Val)	NC_000011.9:g.17650726G>T	VUS	1 lab	80e28bc091
3:38739117 SCN10A T>C	3	38739117	38739117	T	C	SCN10A	c.5594A>G	NM_006514.4	NP_006505.4:p.(Tyr1865Cys)	NC_000003.11:g.38739117T>C	VUS	1 lab	80e2fd6936
3:52437893 BAP1 G>T	3	52437893	52437893	G	T	BAP1	c.1268C>A	NM_004656.4	NP_004647.1:p.(Thr423Lys)	NC_000003.11:g.52437893G>T	(Likely) benign	1 lab	80e54f2c57
6:7568701 DSP G>A	6	7568701	7568701	G	A	DSP	c.1298G>A	NM_004415.2	NP_004406.2:p.(Arg433His)	NC_000006.11:g.7568701G>A	VUS	1 lab	80e7198b97
X:32486838 DMD AT>A	X	32486838	32486844	AT	A	DMD	c.2950-12del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32486844del	(Likely) benign	1 lab	04b5a0a8cb
1:118439462 GDAP2 G>A	1	118439462	118439462	G	A	GDAP2	c.946C>T	NM_017686.3	NP_060156.1:p.(Gln316Ter)	NC_000001.10:g.118439462G>A	(Likely) pathogenic	1 lab	80ec879d4f
12:88530423 CEP290 CT>C	12	88530423	88530424	CT	C	CEP290	c.437del	NM_025114.3	NP_079390.3:p.(Glu146GlyfsTer17)	NC_000012.11:g.88530424del	(Likely) pathogenic	1 lab	80f5132880
15:72170412 MYO9A T>C	15	72170412	72170412	T	C	MYO9A	c.5900A>G	NM_006901.4	NP_008832.2:p.(Glu1967Gly)	NC_000015.9:g.72170412T>C	VUS	1 lab	80fb3737b8
7:83590805 SEMA3A C>T	7	83590805	83590805	C	T	SEMA3A				NC_000007.13:g.83590805C>T	VUS	1 lab	80fbeeff15
2:167279929 SCN7A A>G	2	167279929	167279929	A	G	SCN7A	c.2867T>C	NM_002976.3	NP_002967.2:p.(Ile956Thr)	NC_000002.11:g.167279929A>G	VUS	1 lab	80fd26c39e
12:79842738 SYT1 T>C	12	79842738	79842738	T	C	SYT1	c.1103T>C	NM_001135805.1	NP_001129277.1:p.(Ile368Thr)	NC_000012.11:g.79842738T>C	(Likely) pathogenic	1 lab	80ff6a541a
1:180775264 XPR1 G>A	1	180775264	180775264	G	A	XPR1	c.514G>A	NM_004736.4	NP_004727.2:p.(Gly172Arg)	NC_000001.10:g.180775264G>A	VUS	1 lab	81020c97b7
13:52524403 ATP7B C>G	13	52524403	52524403	C	G	ATP7B	c.2575+5G>C	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52524403C>G	VUS	1 lab	8102c71605
2:157186128 NR4A2 G>A	2	157186128	157186128	G	A	NR4A2	c.571C>T	NM_006186.3	NP_006177.1:p.(Gln191Ter)	NC_000002.11:g.157186128G>A	(Likely) pathogenic	1 lab	810b5f6f2d
17:41245651 BRCA1 G>A	17	41245651	41245651	G	A	BRCA1	c.1897C>T	NM_007294.3	NP_009225.1:p.(Pro633Ser)	NC_000017.10:g.41245651G>A	VUS	1 lab	810d0ab7dc
7:127669206 MISSING CTGAA>C	7	127669206	127669213	CTGAA	C	MISSING				NC_000007.13:g.127669210_127669213del	VUS	1 lab	810d1b0e03
3:52437753 BAP1 C>T	3	52437753	52437753	C	T	BAP1	c.1408G>A	NM_004656.3	NP_004647.1:p.(Gly470Arg)	NC_000003.11:g.52437753C>T	(Likely) benign	1 lab	810d6aa581
4:120214159 USP53 C>T	4	120214159	120214159	C	T	USP53	c.3015C>T	NM_019050.2	NP_061923.2:p.(Asn1005=)	NC_000004.11:g.120214159C>T	(Likely) benign	1 lab	811288bb43
2:179634596 TTN C>T	2	179634596	179634596	C	T	TTN	c.8712G>A	NM_001267550.2	NP_001254479.2:p.(Glu2904=)	NC_000002.11:g.179634596C>T	(Likely) benign	1 lab	8112a56226
2:179583909 TTN C>A	2	179583909	179583909	C	A	TTN	c.24208G>T	NM_001267550.2	NP_001254479.2:p.(Ala8070Ser)	NC_000002.11:g.179583909C>A	(Likely) benign	1 lab	8113794846
5:36984804 NIPBL G>C	5	36984804	36984804	G	C	NIPBL	c.1522G>C	NM_133433.3	NP_597677.2:p.(Asp508His)	NC_000005.9:g.36984804G>C	VUS	1 lab	81162c0a60
12:122243784 SETD1B C>T	12	122243784	122243784	C	T	SETD1B	c.317C>T	NM_001353345.2	NP_001340274.1:p.(Thr106Ile)	NC_000012.11:g.122243784C>T	VUS	1 lab	811cc09f1e
1:181765928 CACNA1E G>A	1	181765928	181765928	G	A	CACNA1E	c.6333G>A	NM_001205293.3	NP_001192222.1:p.(Trp2111Ter)	NC_000001.10:g.181765928G>A	VUS	1 lab	811f5daffc
13:40235011 COG6 G>A	13	40235011	40235011	G	A	COG6	c.362G>A	NM_020751.3	NP_065802.1:p.(Arg121His)	NC_000013.10:g.40235011G>A	VUS	1 lab	811fd6d740
1:59125701 MYSM1 C>T	1	59125701	59125701	C	T	MYSM1	c.2455G>A	NM_001085487.3	NP_001078956.1:p.(Glu819Lys)	NC_000001.10:g.59125701C>T	VUS	1 lab	04b7a5820b
12:48388194 COL2A1 C>T	12	48388194	48388194	C	T	COL2A1	c.816+13G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48388194C>T	(Likely) benign	1 lab	812115125d
3:38797363 SCN10A C>G	3	38797363	38797363	C	G	SCN10A	c.1377G>C	NM_006514.3	NP_006505.3:p.(Arg459Ser)	NC_000003.11:g.38797363C>G	(Likely) benign	1 lab	8121ea0ebb
16:2167820 PKD1 G>A	16	2167820	2167820	G	A	PKD1	c.1173C>T	NM_001009944.2	NP_001009944.2:p.(Ile391=)	NC_000016.9:g.2167820G>A	(Likely) benign	1 lab	81224e1ff2
14:77493665 IRF2BPL G>GGCGGCGGCGGCA	14	77493665	77493680	G	GGCGGCGGCGGCA	IRF2BPL	c.459_470dup	NM_024496.4	NP_078772.1:p.(Ala161_Ala164dup)	NC_000014.8:g.77493669_77493680dup	VUS	1 lab	04b8ffa20f
5:161317954 GABRA1 T>C	5	161317954	161317954	T	C	GABRA1	c.754T>C	NM_000806.5	NP_000797.2:p.(Tyr252His)	NC_000005.9:g.161317954T>C	(Likely) pathogenic	1 lab	8129aaeb03
8:48805816 MISSING A>G	8	48805816	48805816	A	G	MISSING				NC_000008.10:g.48805816A>G	(Likely) benign	1 lab	812a6b1600
3:32169683 GPD1L A>G	3	32169683	32169683	A	G	GPD1L	c.163A>G	NM_015141.3	NP_055956.1:p.(Ile55Val)	NC_000003.11:g.32169683A>G	VUS	1 lab	812c71444c
X:100614304 BTK C>G	X	100614304	100614304	C	G	BTK	c.871G>C	NM_000061.3	NP_000052.1:p.(Ala291Pro)	NC_000023.10:g.100614304C>G	(Likely) pathogenic	1 lab	812d6263f2
18:52896231 TCF4 G>C	18	52896231	52896231	G	C	TCF4	c.1726C>G	NM_001083962.1	NP_001077431.1:p.(Arg576Gly)	NC_000018.9:g.52896231G>C	(Likely) pathogenic	1 lab	812e484051
17:48246702 SGCA G>A	17	48246702	48246702	G	A	SGCA	c.747+87G>A	NM_000023.2	NP_000014.1:p.?	NC_000017.10:g.48246702G>A	(Likely) benign	1 lab	812fc8adef
5:149323906 PDE6A T>G	5	149323906	149323906	T	G	PDE6A	c.331A>C	NM_000440.2	NP_000431.2:p.(Arg111=)	NC_000005.9:g.149323906T>G	(Likely) benign	1 lab	81317aa145
11:2790019 KCNQ1 G>A	11	2790019	2790019	G	A	KCNQ1	c.1515-55G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2790019G>A	(Likely) benign	1 lab	82a5848271
2:216253039 FN1 G>C	2	216253039	216253039	G	C	FN1	c.4253-15C>G	NM_212482.1	NP_997647.1:p.?	NC_000002.11:g.216253039G>C	(Likely) benign	1 lab	8132fbb2f4
7:33136983 RP9 G>A	7	33136983	33136983	G	A	RP9	c.314-9C>T	NM_203288.2	NP_976033.1:p.?	NC_000007.13:g.33136983G>A	(Likely) benign	1 lab	04bb522651
3:38951660 SCN11A A>C	3	38951660	38951660	A	C	SCN11A	c.998T>G	NM_014139.2	NP_054858.2:p.(Ile333Ser)	NC_000003.11:g.38951660A>C	(Likely) benign	1 lab	8135545bbe
2:32476416 NLRC4 T>C	2	32476416	32476416	T	C	NLRC4	c.517A>G	NM_021209.4	NP_067032.3:p.(Lys173Glu)	NC_000002.11:g.32476416T>C	VUS	1 lab	813706ef2d
3:122002885 CASR T>G	3	122002885	122002885	T	G	CASR	c.2084T>G	NM_000388.3	NP_000379.2:p.(Ile695Ser)	NC_000003.11:g.122002885T>G	VUS	1 lab	8137364b61
12:133254275 POLE A>C	12	133254275	133254275	A	C	POLE	c.609T>G	NM_006231.4	NP_006222.2:p.(Asp203Glu)	NC_000012.11:g.133254275A>C	(Likely) benign	1 lab	81373c3c9a
12:49416064 KMT2D T>A	12	49416064	49416064	T	A	KMT2D	c.16411A>T	NM_003482.3	NP_003473.3:p.(Arg5471Trp)	NC_000012.11:g.49416064T>A	(Likely) pathogenic	1 lab	81392dd125
10:75874166 VCL CGTGTGTGT>C	10	75874166	75874195	CGTGTGTGT	C	VCL	c.3153+43_3153+50del	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75874188_75874195del	(Likely) benign	1 lab	813a78ace5
16:2142492 PKD1 C>T	16	2142492	2142492	C	T	PKD1	c.11258G>A	NM_001009944.3	NP_001009944.3:p.(Arg3753Gln)	NC_000016.9:g.2142492C>T	(Likely) pathogenic	1 lab	813ba8fbc8
10:75758087 VCL C>T	10	75758087	75758087	C	T	VCL	c.122C>T	NM_014000.2	NP_054706.1:p.(Thr41Ile)	NC_000010.10:g.75758087C>T	VUS	1 lab	813ffb8bdd
5:112128161 APC C>T	5	112128161	112128161	C	T	APC	c.664C>T	NM_000038.6	NP_000029.2:p.(Gln222Ter)	NC_000005.9:g.112128161C>T	(Likely) pathogenic	1 lab	81422febde
9:140711874 EHMT1 T>C	9	140711874	140711874	T	C	EHMT1	c.3375-17T>C	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140711874T>C	(Likely) benign	1 lab	814333e04f
12:6094276 VWF C>T	12	6094276	6094276	C	T	VWF	c.6911G>A	NM_000552.3	NP_000543.2:p.(Cys2304Tyr)	NC_000012.11:g.6094276C>T	(Likely) pathogenic	1 lab	8147a95582
5:68728504 MARVELD2 T>C	5	68728504	68728504	T	C	MARVELD2	c.1331+2T>C	NM_001038603.3	NP_001033692.2:p.?	NC_000005.9:g.68728504T>C	(Likely) pathogenic	1 lab	814a0080d7
11:108098289 ATM A>G	11	108098289	108098289	A	G	ATM	c.-30-33A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098289A>G	(Likely) benign	1 lab	814b6d32fc
9:135176008 SETX TTTAC>T	9	135176008	135176017	TTTAC	T	SETX	c.5548+5_5548+8del	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135176014_135176017del	(Likely) pathogenic	1 lab	814c2a8839
6:75902066 COL12A1 G>A	6	75902066	75902066	G	A	COL12A1	c.196C>T	NM_004370.6	NP_004361.3:p.(Pro66Ser)	NC_000006.11:g.75902066G>A	VUS	1 lab	814f4260af
2:225376097 CUL3 T>C	2	225376097	225376097	T	C	CUL3	c.857A>G	NM_003590.5	NP_003581.1:p.(His286Arg)	NC_000002.11:g.225376097T>C	VUS	1 lab	04c60985eb
3:48508793 SHISA5 G>C	3	48508793	48508793	G	C	SHISA5				NC_000003.11:g.48508793G>C	VUS	1 lab	81529f9ff8
3:37067373 MLH1 T>C	3	37067373	37067373	T	C	MLH1	c.1284T>C	NM_000249.3	NP_000240.1:p.(Asp428=)	NC_000003.11:g.37067373T>C	(Likely) benign	1 lab	815a369468
6:33400564 SYNGAP1 C>T	6	33400564	33400564	C	T	SYNGAP1	c.490C>T	NM_006772.3	NP_006763.2:p.(Arg164Ter)	NC_000006.11:g.33400564C>T	(Likely) pathogenic	1 lab	815bc04bee
12:50031548 PRPF40B G>A	12	50031548	50031548	G	A	PRPF40B				NC_000012.11:g.50031548G>A	VUS	1 lab	815f0c1bd1
11:108201072 ATM A>G	11	108201072	108201072	A	G	ATM	c.7439A>G	NM_000051.4	NP_000042.3:p.(His2480Arg)	NC_000011.9:g.108201072A>G	VUS	1 lab	04ca012d79
6:152476160 SYNE1 C>T	6	152476160	152476160	C	T	SYNE1	c.23996G>A	NM_182961.4	NP_892006.3:p.(Arg7999Gln)	NC_000006.11:g.152476160C>T	VUS	1 lab	04cc9ea1c4
12:110019344 MVK T>C	12	110019344	110019344	T	C	MVK	c.516T>C	NM_000431.2	NP_000422.1:p.(Asp172=)	NC_000012.11:g.110019344T>C	(Likely) benign	1 lab	0c856a1745
6:49427089 MMUT G>A	6	49427089	49427089	G	A	MMUT	c.91C>T	NM_000255.3	NP_000246.2:p.(Arg31Ter)	NC_000006.11:g.49427089G>A	(Likely) pathogenic	1 lab	81680368e9
2:179412518 TTN T>C	2	179412518	179412518	T	C	TTN	c.67216A>G	NM_133437.4	NP_597681.4:p.(Met22406Val)	NC_000002.11:g.179412518T>C	VUS	1 lab	816913c9b9
12:80712344 OTOGL A>G	12	80712344	80712344	A	G	OTOGL	c.3626A>G	NM_173591.3	NP_775862.3:p.(Tyr1209Cys)	NC_000012.11:g.80712344A>G	VUS	1 lab	81692d67ab
16:16101731 ABCC1 C>T	16	16101731	16101731	C	T	ABCC1	c.107C>T	NM_004996.4	NP_004987.2:p.(Thr36Met)	NC_000016.9:g.16101731C>T	VUS	1 lab	8169d84f62
10:50708600 ERCC6 G>C	10	50708600	50708600	G	C	ERCC6	c.1669C>G	NM_000124.3	NP_000115.1:p.(Arg557Gly)	NC_000010.10:g.50708600G>C	VUS	1 lab	816a936b2f
14:31355156 COCH T>C	14	31355156	31355156	T	C	COCH	c.1115T>C	NM_004086.3	NP_004077.1:p.(Ile372Thr)	NC_000014.8:g.31355156T>C	(Likely) pathogenic	1 lab	816bc4003f
3:9976779 CRELD1 A>G	3	9976779	9976779	A	G	CRELD1	c.257+178A>G	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9976779A>G	(Likely) benign	1 lab	816ed46e6a
12:111353320 MYL2 GA>G	12	111353320	111353328	GA	G	MYL2	c.169+198del	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111353328del	(Likely) benign	1 lab	81711941ab
12:89853408 POC1B G>A	12	89853408	89853408	G	A	POC1B	c.1113+7C>T	NM_172240.3	NP_758440.1:p.?	NC_000012.11:g.89853408G>A	(Likely) benign	1 lab	04cf0ff5d9
16:2140718 PKD1 C>T	16	2140718	2140718	C	T	PKD1	c.12095G>A	NM_001009944.2	NP_001009944.2:p.(Gly4032Asp)	NC_000016.9:g.2140718C>T	VUS	1 lab	81745daf24
4:186066942 SLC25A4 A>G	4	186066942	186066942	A	G	SLC25A4				NC_000004.11:g.186066942A>G	(Likely) benign	1 lab	8176bf45e8
7:150644550 KCNH2 GC>G	7	150644550	150644554	GC	G	KCNH2	c.3017del	NM_000238.4	NP_000229.1:p.(Gly1006AlafsTer51)	NC_000007.13:g.150644554del	(Likely) pathogenic	1 lab	8177b7712e
17:57742244 CLTC G>T	17	57742244	57742244	G	T	CLTC				NC_000017.10:g.57742244G>T	VUS	1 lab	817934375b
5:112116632 APC C>T	5	112116632	112116632	C	T	APC	c.645+32C>T	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112116632C>T	(Likely) benign	1 lab	817b5e1935
4:114277521 ANK2 A>G	4	114277521	114277521	A	G	ANK2	c.7747A>G	NM_001148.4	NP_001139.3:p.(Thr2583Ala)	NC_000004.11:g.114277521A>G	(Likely) benign	1 lab	817e366758
3:38645393 SCN5A A>T	3	38645393	38645393	A	T	SCN5A	c.1700T>A	NM_198056.2	NP_932173.1:p.(Leu567Gln)	NC_000003.11:g.38645393A>T	VUS	1 lab	817ebe34f6
17:29677204 NF1 T>A	17	29677204	29677204	T	A	NF1	c.7262T>A	NM_000267.3	NP_000258.1:p.(Leu2421Ter)	NC_000017.10:g.29677204T>A	(Likely) pathogenic	1 lab	817fe45cc5
17:68171678 KCNJ2 C>T	17	68171678	68171678	C	T	KCNJ2	c.498C>T	NM_000891.2	NP_000882.1:p.(Ile166=)	NC_000017.10:g.68171678C>T	(Likely) benign	1 lab	0c862c4a33
14:23874453 MYH6 C>G	14	23874453	23874453	C	G	MYH6	c.481G>C	NM_002471.3	NP_002462.2:p.(Ala161Pro)	NC_000014.8:g.23874453C>G	VUS	1 lab	8183702164
X:132161633 USP26 A>G	X	132161633	132161633	A	G	USP26	c.616T>C	NM_031907.3	NP_114113.1:p.(Ser206Pro)	NC_000023.10:g.132161633A>G	VUS	1 lab	8188693add
11:45958060 PHF21A T>C	11	45958060	45958060	T	C	PHF21A	c.1669A>G	NM_001352025.1	NP_001338954.1:p.(Ile557Val)	NC_000011.9:g.45958060T>C	(Likely) benign	1 lab	8188bebac0
10:89720714 PTEN A>G	10	89720714	89720714	A	G	PTEN	c.865A>G	NM_000314.4	NP_000305.3:p.(Lys289Glu)	NC_000010.10:g.89720714A>G	VUS	1 lab	818a6be05b
2:48027091 MSH6 C>T	2	48027091	48027091	C	T	MSH6	c.1969C>T	NM_000179.2	NP_000170.1:p.(Gln657Ter)	NC_000002.11:g.48027091C>T	(Likely) pathogenic	1 lab	818c94d94c
2:125504946 CNTNAP5 G>A	2	125504946	125504946	G	A	CNTNAP5	c.2215G>A	NM_130773.2	NP_570129.1:p.(Ala739Thr)	NC_000002.11:g.125504946G>A	VUS	1 lab	818e4adedf
1:201022675 CACNA1S C>T	1	201022675	201022675	C	T	CACNA1S	c.3707G>A	NM_000069.2	NP_000060.2:p.(Arg1236His)	NC_000001.10:g.201022675C>T	(Likely) pathogenic	1 lab	818f574727
17:18044441 MYO15A C>T	17	18044441	18044441	C	T	MYO15A				NC_000017.10:g.18044441C>T	(Likely) pathogenic	1 lab	922003bed3
X:152801877 ATP2B3 G>A	X	152801877	152801877	G	A	ATP2B3	c.172G>A	NM_001001344.3	NP_001001344.1:p.(Gly58Arg)	NC_000023.10:g.152801877G>A	VUS	1 lab	8190b267ec
5:112175969 APC G>T	5	112175969	112175969	G	T	APC	c.4678G>T	NM_000038.6	NP_000029.2:p.(Glu1560Ter)	NC_000005.9:g.112175969G>T	(Likely) pathogenic	1 lab	8192ddeb27
X:32632440 DMD G>A	X	32632440	32632440	G	A	DMD	c.1462C>T	NM_004006.3	NP_003997.2:p.(Arg488Cys)	NC_000023.10:g.32632440G>A	(Likely) benign	1 lab	04d990030a
10:89623915 PTEN C>T	10	89623915	89623915	C	T	PTEN	c.-312C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623915C>T	(Likely) benign	1 lab	8195c775de
9:138676354 KCNT1 TCCCTCCCTCCCTCCCTC>T	9	138676354	138676373	TCCCTCCCTCCCTCCCTC	T	KCNT1	c.2944-24_2944-8del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138676357_138676373del	(Likely) benign	1 lab	04da1090dd
12:110028737 MVK C>A	12	110028737	110028737	C	A	MVK	c.768+71C>A	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110028737C>A	VUS	1 lab	819bfeaa1c
2:165946974 SCN3A G>A	2	165946974	165946974	G	A	SCN3A	c.5689C>T	NM_006922.3	NP_008853.3:p.(Arg1897Cys)	NC_000002.11:g.165946974G>A	VUS	1 lab	819e71ccf3
14:51089896 ATL1 C>T	14	51089896	51089896	C	T	ATL1	c.1049C>T	NM_015915.5	NP_056999.2:p.(Ala350Val)	NC_000014.8:g.51089896C>T	VUS	1 lab	819f75d44a
4:1806635 FGFR3 C>A	4	1806635	1806635	C	A	FGFR3	c.1351C>A	NM_000142.5	NP_000133.1:p.(Leu451Met)	NC_000004.11:g.1806635C>A	VUS	1 lab	04dd31f74f
6:32007548 CYP21A2 G>A	6	32007548	32007548	G	A	CYP21A2	c.674G>A	NM_000500.7	NP_000491.4:p.(Arg225Gln)	NC_000006.11:g.32007548G>A	VUS	1 lab	81a1fa4680
7:107350580 SLC26A4 A>G	7	107350580	107350580	A	G	SLC26A4				NC_000007.13:g.107350580A>G	(Likely) pathogenic	1 lab	81aca2d8dc
1:196876458 CFHR4 A>G	1	196876458	196876458	A	G	CFHR4	c.629A>G	NM_001201550.2	NP_001188479.1:p.(Asn210Ser)	NC_000001.10:g.196876458A>G	(Likely) benign	1 lab	81ae6c6d83
6:24357928 DCDC2 C>G	6	24357928	24357928	C	G	DCDC2	c.51G>C	NM_016356.4	NP_057440.2:p.(Lys17Asn)	NC_000006.11:g.24357928C>G	(Likely) pathogenic	1 lab	81aea8a4bc
6:7566719 DSP G>GC	6	7566719	7566720	G	GC	DSP	c.1044+6dup	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7566720dup	(Likely) benign	1 lab	81bc310e1a
10:79759751 POLR3A C>T	10	79759751	79759751	C	T	POLR3A	c.2604G>A	NM_007055.3	NP_008986.2:p.(Thr868=)	NC_000010.10:g.79759751C>T	(Likely) benign	1 lab	81bc81934f
11:17618556 OTOG T>C	11	17618556	17618556	T	C	OTOG	c.3718+2T>C	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17618556T>C	(Likely) pathogenic	1 lab	81bebfa5ff
17:29486152 NF1 G>A	17	29486152	29486152	G	A	NF1	c.288+41G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29486152G>A	(Likely) benign	1 lab	81c13a59fb
1:228492860 OBSCN A>C	1	228492860	228492860	A	C	OBSCN	c.14303A>C	NM_001271223.2	NP_001258152.2:p.(Glu4768Ala)	NC_000001.10:g.228492860A>C	(Likely) benign	1 lab	81c3668bef
10:88659573 BMPR1A G>T	10	88659573	88659573	G	T	BMPR1A	c.356G>T	NM_004329.2	NP_004320.2:p.(Arg119Leu)	NC_000010.10:g.88659573G>T	VUS	1 lab	81c5e36f17
13:101763567 NALCN G>A	13	101763567	101763567	G	A	NALCN	c.2203C>T	NM_052867.2	NP_443099.1:p.(Arg735Ter)	NC_000013.10:g.101763567G>A	(Likely) pathogenic	1 lab	81c6789bd8
16:53682949 RPGRIP1L C>A	16	53682949	53682949	C	A	RPGRIP1L	c.2231G>T	NM_015272.5	NP_056087.2:p.(Arg744Leu)	NC_000016.9:g.53682949C>A	(Likely) benign	1 lab	0c886ef14f
16:68853170 CDH1 T>A	16	68853170	68853170	T	A	CDH1	c.1566-13T>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68853170T>A	(Likely) pathogenic	1 lab	81c6ceba69
14:23858169 MYH6 C>A	14	23858169	23858169	C	A	MYH6	c.4074G>T	NM_002471.3	NP_002462.2:p.(Glu1358Asp)	NC_000014.8:g.23858169C>A	VUS	1 lab	81c8ed9aa1
6:87966550 ZNF292 T>G	6	87966550	87966550	T	G	ZNF292	c.3203T>G	NM_015021.2	NP_055836.1:p.(Leu1068Ter)	NC_000006.11:g.87966550T>G	VUS	1 lab	81cc49155a
10:69366662 CTNNA3 A>C	10	69366662	69366662	A	C	CTNNA3	c.245T>G	NM_013266.3	NP_037398.2:p.(Val82Gly)	NC_000010.10:g.69366662A>C	VUS	1 lab	81ce4b3b6c
12:13716933 GRIN2B C>T	12	13716933	13716933	C	T	GRIN2B	c.3239G>A	NM_000834.5	NP_000825.2:p.(Arg1080Lys)	NC_000012.11:g.13716933C>T	VUS	1 lab	81ce8e23b6
1:196251433 KCNT2 G>T	1	196251433	196251433	G	T	KCNT2	c.2751C>A	NM_198503.5	NP_940905.2:p.(Asp917Glu)	NC_000001.10:g.196251433G>T	VUS	1 lab	81ced71790
19:13428055 CACNA1A G>A	19	13428055	13428055	G	A	CACNA1A	c.1429C>T	NM_001127221.2	NP_001120693.1:p.(Arg477Cys)	NC_000019.9:g.13428055G>A	(Likely) pathogenic	1 lab	81d1823f7b
11:88911767 TYR T>A	11	88911767	88911767	T	A	TYR	c.646T>A	NM_000372.5	NP_000363.1:p.(Leu216Met)	NC_000011.9:g.88911767T>A	VUS	1 lab	81d3d8ab45
13:32968863 BRCA2 C>A	13	32968863	32968863	C	A	BRCA2	c.9294C>A	NM_000059.3	NP_000050.2:p.(Tyr3098Ter)	NC_000013.10:g.32968863C>A	(Likely) pathogenic	1 lab	81d477d24d
16:70310930 AARS1 T>A	16	70310930	70310930	T	A	AARS1	c.272A>T	NM_001605.3	NP_001596.2:p.(Asp91Val)	NC_000016.9:g.70310930T>A	VUS	1 lab	04e62f3ab4
16:23637762 PALB2 T>G	16	23637762	23637762	T	G	PALB2	c.2587-44A>C	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23637762T>G	(Likely) benign	1 lab	81de5d36a9
3:47165369 SETD2 C>A	3	47165369	47165369	C	A	SETD2	c.757G>T	NM_014159.7	NP_054878.5:p.(Asp253Tyr)	NC_000003.11:g.47165369C>A	VUS	1 lab	04eacc93c7
7:142571883 TRPV6 C>T	7	142571883	142571883	C	T	TRPV6	c.1585G>A	NM_018646.6	NP_061116.5:p.(Asp529Asn)	NC_000007.13:g.142571883C>T	VUS	1 lab	04f0d25045
1:43395576 SLC2A1 A>G	1	43395576	43395576	A	G	SLC2A1				NC_000001.10:g.43395576A>G	(Likely) pathogenic	1 lab	944c6763ad
16:69354193 VPS4A G>A	16	69354193	69354193	G	A	VPS4A	c.769+1G>A	NM_013245.3	NP_037377.1:p.?	NC_000016.9:g.69354193G>A	VUS	1 lab	81e7ef578b
11:76873898 MYO7A G>C	11	76873898	76873898	G	C	MYO7A	c.1555-1G>C	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76873898G>C	(Likely) pathogenic	1 lab	81e876756d
12:110222189 TRPV4 T>C	12	110222189	110222189	T	C	TRPV4	c.2390A>G	NM_021625.4	NP_067638.3:p.(Glu797Gly)	NC_000012.11:g.110222189T>C	VUS	1 lab	81eabf379c
X:21627347 CNKSR2 G>A	X	21627347	21627347	G	A	CNKSR2	c.2304G>A	NM_014927.3	NP_055742.2:p.(Trp768Ter)	NC_000023.10:g.21627347G>A	(Likely) pathogenic	1 lab	81ed2fef2e
19:34839995 GARRE1 A>G	19	34839995	34839995	A	G	GARRE1	c.2762A>G	NM_014686.3	NP_055501.2:p.(Asn921Ser)	NC_000019.9:g.34839995A>G	VUS	1 lab	81ef220796
13:32910368 BRCA2 C>A	13	32910368	32910368	C	A	BRCA2	c.1910-34C>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32910368C>A	(Likely) benign	1 lab	81f03f05cd
2:228131827 COL4A3 T>C	2	228131827	228131827	T	C	COL4A3	c.1504+23T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228131827T>C	(Likely) benign	1 lab	81f1771307
1:226034879 TMEM63A C>T	1	226034879	226034879	C	T	TMEM63A	c.2286G>A	NM_014698.3	NP_055513.2:p.(Ser762=)	NC_000001.10:g.226034879C>T	(Likely) benign	1 lab	04f2f5834b
19:4110631 MAP2K2 G>A	19	4110631	4110631	G	A	MAP2K2	c.326C>T	NM_030662.4	NP_109587.1:p.(Pro109Leu)	NC_000019.9:g.4110631G>A	VUS	1 lab	04f7cb3c3c
6:123957898 TRDN C>A	6	123957898	123957898	C	A	TRDN	c.22+1G>T	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123957898C>A	(Likely) pathogenic	1 lab	81f56d569d
11:118133220 MPZL2 G>C	11	118133220	118133220	G	C	MPZL2	c.369C>G	NM_005797.4	NP_005788.1:p.(Cys123Trp)	NC_000011.9:g.118133220G>C	VUS	1 lab	81fa3a0a0f
2:168103741 XIRP2 A>T	2	168103741	168103741	A	T	XIRP2	c.5839A>T	NM_152381.6	NP_689594.4:p.(Lys1947Ter)	NC_000002.11:g.168103741A>T	VUS	1 lab	81fce9a449
7:35942791 MISSING C>T	7	35942791	35942791	C	T	MISSING				NC_000007.13:g.35942791C>T	VUS	1 lab	944ce1bf70
15:25620906 UBE3A G>A	15	25620906	25620906	G	A	UBE3A	c.7C>T	NM_130838.2	NP_570853.1:p.(Arg3Ter)	NC_000015.9:g.25620906G>A	(Likely) pathogenic	1 lab	81fe3746c4
17:40474491 STAT3 A>G	17	40474491	40474491	A	G	STAT3	c.1910T>C	NM_139276.3	NP_644805.1:p.(Val637Ala)	NC_000017.10:g.40474491A>G	(Likely) pathogenic	1 lab	820092221a
9:140611141 EHMT1 C>G	9	140611141	140611141	C	G	EHMT1	c.149C>G	NM_024757.4	NP_079033.4:p.(Ala50Gly)	NC_000009.11:g.140611141C>G	(Likely) benign	1 lab	8200a2d17f
X:138643011 F9 G>A	X	138643011	138643011	G	A	F9	c.835G>A	NM_000133.4	NP_000124.1:p.(Ala279Thr)	NC_000023.10:g.138643011G>A	(Likely) pathogenic	1 lab	8203222a88
8:38003488 STAR C>T	8	38003488	38003488	C	T	STAR	c.643G>A	NM_000349.3	NP_000340.2:p.(Val215Ile)	NC_000008.10:g.38003488C>T	VUS	1 lab	04f7efe38a
2:131356266 CFC1 C>G	2	131356266	131356266	C	G	CFC1	c.196G>C	NM_032545.3	NP_115934.1:p.(Glu66Gln)	NC_000002.11:g.131356266C>G	(Likely) benign	1 lab	8203a720e0
3:121137976 STXBP5L C>T	3	121137976	121137976	C	T	STXBP5L	c.*32C>T	NM_014980.2	NP_055795.1:p.?	NC_000003.11:g.121137976C>T	(Likely) benign	1 lab	8203ec6d08
2:25470584 DNMT3A C>T	2	25470584	25470584	C	T	DNMT3A				NC_000002.11:g.25470584C>T	(Likely) pathogenic	1 lab	8206ff3166
14:23883036 MYH7 C>T	14	23883036	23883036	C	T	MYH7	c.5722G>A	NM_000257.3	NP_000248.2:p.(Glu1908Lys)	NC_000014.8:g.23883036C>T	VUS	1 lab	8207e123ef
14:23897786 MYH7 ACTC>A	14	23897786	23897794	ACTC	A	MYH7	c.1498_1500del	NM_000257.4	NP_000248.2:p.(Glu500del)	NC_000014.8:g.23897792_23897794del	(Likely) pathogenic	1 lab	8209c39989
18:44219680 LOXHD1 C>T	18	44219680	44219680	C	T	LOXHD1	c.410G>A	NM_144612.6	NP_653213.6:p.(Arg137His)	NC_000018.9:g.44219680C>T	VUS	1 lab	820cb6f2c4
2:45169990 SIX3 A>C	2	45169990	45169990	A	C	SIX3	c.747A>C	NM_005413.3	NP_005404.1:p.(Gln249His)	NC_000002.11:g.45169990A>C	(Likely) pathogenic	1 lab	820cbd786b
3:37035223 MLH1 G>A	3	37035223	37035223	G	A	MLH1	c.116+69G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37035223G>A	(Likely) benign	1 lab	820d35610d
2:227984656 COL4A4 C>T	2	227984656	227984656	C	T	COL4A4	c.328-1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227984656C>T	(Likely) pathogenic	1 lab	82146d03db
10:79785403 POLR3A T>C	10	79785403	79785403	T	C	POLR3A	c.295A>G	NM_007055.4	NP_008986.2:p.(Arg99Gly)	NC_000010.10:g.79785403T>C	VUS	1 lab	04f80878f9
4:155508024 FGA C>T	4	155508024	155508024	C	T	FGA	c.557G>A	NM_021871.4	NP_068657.1:p.(Arg186Lys)	NC_000004.11:g.155508024C>T	VUS	1 lab	04f91c7bf6
1:207643142 CR2 C>T	1	207643142	207643142	C	T	CR2	c.920C>T	NM_001006658.2	NP_001006659.1:p.(Pro307Leu)	NC_000001.10:g.207643142C>T	(Likely) pathogenic	1 lab	821d61952d
2:165947135 SCN3A C>G	2	165947135	165947135	C	G	SCN3A	c.5528G>C	NM_006922.3	NP_008853.3:p.(Ser1843Thr)	NC_000002.11:g.165947135C>G	VUS	1 lab	821d966c24
3:121975948 CASR G>A	3	121975948	121975948	G	A	CASR	c.206G>A	NM_000388.4	NP_000379.3:p.(Arg69His)	NC_000003.11:g.121975948G>A	(Likely) pathogenic	1 lab	821f360fdf
4:151850226 LRBA G>A	4	151850226	151850226	G	A	LRBA	c.217-9C>T	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151850226G>A	(Likely) benign	1 lab	388d2e7c1c
1:6535140 PLEKHG5 T>C	1	6535140	6535140	T	C	PLEKHG5	c.269A>G	NM_020631.6	NP_065682.2:p.(Glu90Gly)	NC_000001.10:g.6535140T>C	VUS	1 lab	8221d4d78f
12:112891014 PTPN11 T>G	12	112891014	112891014	T	G	PTPN11				NC_000012.11:g.112891014T>G	VUS	1 lab	8221f31a5e
6:64498971 EYS A>G	6	64498971	64498971	A	G	EYS				NC_000006.11:g.64498971A>G	(Likely) benign	1 lab	8223d53140
20:30419846 MYLK2 G>A	20	30419846	30419846	G	A	MYLK2	c.1617G>A	NM_033118.4	NP_149109.1:p.(Trp539Ter)	NC_000020.10:g.30419846G>A	VUS	1 lab	82249896f8
5:112174789 APC T>A	5	112174789	112174789	T	A	APC	c.3498T>A	NM_000038.5	NP_000029.2:p.(Tyr1166Ter)	NC_000005.9:g.112174789T>A	(Likely) pathogenic	1 lab	8228afd962
2:167138286 SCN9A A>G	2	167138286	167138286	A	G	SCN9A	c.1974T>C	NM_002977.3	NP_002968.1:p.(Arg658=)	NC_000002.11:g.167138286A>G	(Likely) benign	1 lab	8229dbc912
21:47409656 COL6A1 G>A	21	47409656	47409656	G	A	COL6A1	c.904-10G>A	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47409656G>A	(Likely) pathogenic	1 lab	822a422529
8:10469340 RP1L1 G>A	8	10469340	10469340	G	A	RP1L1				NC_000008.10:g.10469340G>A	(Likely) benign	1 lab	822ce1c3bb
2:44547516 SLC3A1 T>C	2	44547516	44547516	T	C	SLC3A1	c.1796T>C	NM_000341.3	NP_000332.2:p.(Phe599Ser)	NC_000002.11:g.44547516T>C	VUS	1 lab	822d360e38
18:10468453 APCDD1 C>T	18	10468453	10468453	C	T	APCDD1	c.59-13C>T	NM_153000.5	NP_694545.1:p.?	NC_000018.9:g.10468453C>T	(Likely) benign	1 lab	04fdd7c6f8
8:87680283 CNGB3 G>A	8	87680283	87680283	G	A	CNGB3	c.607C>T	NM_019098.5	NP_061971.3:p.(Arg203Ter)	NC_000008.10:g.87680283G>A	(Likely) pathogenic	1 lab	823074f2b4
17:59479053 TBX2 TC>T	17	59479053	59479060	TC	T	TBX2	c.411del	NM_005994.3	NP_005985.3:p.(Phe138SerfsTer17)	NC_000017.10:g.59479060del	VUS	1 lab	8233bee77d
6:73843167 KCNQ5 G>A	6	73843167	73843167	G	A	KCNQ5	c.1328G>A	NM_001160133.1	NP_001153605.1:p.(Arg443Gln)	NC_000006.11:g.73843167G>A	(Likely) benign	1 lab	82364e1827
16:2161796 PKD1 G>A	16	2161796	2161796	G	A	PKD1	c.3372C>T	NM_001009944.2	NP_001009944.2:p.(Ala1124=)	NC_000016.9:g.2161796G>A	(Likely) benign	1 lab	8236e9d59f
5:112174941 APC A>T	5	112174941	112174941	A	T	APC				NC_000005.9:g.112174941A>T	VUS	1 lab	8238f8d53a
1:74901739 TNNI3K CTT>C	1	74901739	74901759	CTT	C	TNNI3K	c.1773-6_1773-5del	NM_015978.3	NP_057062.1:p.?	NC_000001.10:g.74901758_74901759del	(Likely) benign	1 lab	0502535583
1:111147107 KCNA2 G>A	1	111147107	111147107	G	A	KCNA2	c.298C>T	NM_004974.3	NP_004965.1:p.(Arg100Ter)	NC_000001.10:g.111147107G>A	(Likely) pathogenic	1 lab	823cfbaa7b
8:100833441 VPS13B TA>T	8	100833441	100833451	TA	T	VPS13B	c.8995-71del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100833451del	(Likely) benign	1 lab	0c8c668065
19:11557167 PRKCSH T>C	19	11557167	11557167	T	C	PRKCSH	c.762+2T>C	NM_002743.3	NP_002734.2:p.?	NC_000019.9:g.11557167T>C	(Likely) pathogenic	1 lab	823df11d90
X:100653737 GLA C>T	X	100653737	100653737	C	T	GLA	c.801+36G>A	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653737C>T	(Likely) benign	1 lab	823fe3f691
16:89351830 ANKRD11 C>A	16	89351830	89351830	C	A	ANKRD11	c.1120G>T	NM_001256182.1	NP_001243111.1:p.(Glu374Ter)	NC_000016.9:g.89351830C>A	(Likely) pathogenic	1 lab	8241f21e42
1:152327541 FLG2 G>T	1	152327541	152327541	G	T	FLG2	c.2721C>A	NM_001014342.3	NP_001014364.1:p.(Tyr907Ter)	NC_000001.10:g.152327541G>T	(Likely) pathogenic	1 lab	05066de48f
2:220115699 TUBA4A G>A	2	220115699	220115699	G	A	TUBA4A	c.722C>T	NM_006000.3	NP_005991.1:p.(Ser241Phe)	NC_000002.11:g.220115699G>A	VUS	1 lab	824840195e
9:136324153 ADAMTS13 T>C	9	136324153	136324153	T	C	ADAMTS13	c.4135T>C	NM_139025.4	NP_620594.1:p.(Trp1379Arg)	NC_000009.11:g.136324153T>C	VUS	1 lab	824905fa38
5:156184762 SGCD G>A	5	156184762	156184762	G	A	SGCD	c.746G>A	NM_172244.3	NP_758447.1:p.(Arg249Lys)	NC_000005.9:g.156184762G>A	(Likely) benign	1 lab	0c93b1f949
19:35524449 SCN1B G>T	19	35524449	35524449	G	T	SCN1B	c.254G>T	NM_001037.4	NP_001028.1:p.(Arg85Leu)	NC_000019.9:g.35524449G>T	VUS	1 lab	824d489dab
10:122643308 WDR11 G>T	10	122643308	122643308	G	T	WDR11	c.1756G>T	NM_018117.11	NP_060587.8:p.(Val586Leu)	NC_000010.10:g.122643308G>T	VUS	1 lab	8253c25d4a
11:108214176 ATM A>G	11	108214176	108214176	A	G	ATM	c.8418+78A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108214176A>G	(Likely) benign	1 lab	8258e2700f
10:127460952 MMP21 G>T	10	127460952	127460952	G	T	MMP21	c.838-24C>A	NM_147191.1	NP_671724.1:p.?	NC_000010.10:g.127460952G>T	(Likely) benign	1 lab	825993a69c
8:94777807 TMEM67 G>T	8	94777807	94777807	G	T	TMEM67	c.584G>T	NM_153704.5	NP_714915.3:p.(Gly195Val)	NC_000008.10:g.94777807G>T	VUS	1 lab	825b1800b0
4:984132 IDUA G>A	4	984132	984132	G	A	IDUA	c.299+2395G>A	NM_000203.4	NP_000194.2:p.?	NC_000004.11:g.984132G>A	VUS	1 lab	886984a0fe
19:42474556 ATP1A3 T>C	19	42474556	42474556	T	C	ATP1A3	c.2402A>G	NM_152296.4	NP_689509.1:p.(Asp801Gly)	NC_000019.9:g.42474556T>C	(Likely) pathogenic	1 lab	825bfefb7b
1:21903992 ALPL G>A	1	21903992	21903992	G	A	ALPL	c.1426G>A	NM_000478.4	NP_000469.3:p.(Glu476Lys)	NC_000001.10:g.21903992G>A	(Likely) pathogenic	1 lab	826111b7a3
14:24732474 TGM1 G>A	14	24732474	24732474	G	A	TGM1				NC_000014.8:g.24732474G>A	(Likely) benign	1 lab	82624f5dc4
11:2683173 KCNQ1 C>G	11	2683173	2683173	C	G	KCNQ1				NC_000011.9:g.2683173C>G	(Likely) benign	1 lab	826cbc9d79
10:97392769 ALDH18A1 C>T	10	97392769	97392769	C	T	ALDH18A1	c.755G>A	NM_002860.3	NP_002851.2:p.(Arg252Gln)	NC_000010.10:g.97392769C>T	(Likely) pathogenic	1 lab	8270e36cb9
2:215657051 BARD1 G>A	2	215657051	215657051	G	A	BARD1	c.334C>T	NM_000465.4	NP_000456.2:p.(Arg112Ter)	NC_000002.11:g.215657051G>A	(Likely) pathogenic	1 lab	827322c4e5
16:4951053 PPL G>A	16	4951053	4951053	G	A	PPL	c.476C>T	NM_002705.5	NP_002696.4:p.(Pro159Leu)	NC_000016.9:g.4951053G>A	VUS	1 lab	051393d41e
6:43011255 CUL7 G>C	6	43011255	43011255	G	C	CUL7	c.3286C>G	NM_014780.5	NP_055595.2:p.(Leu1096Val)	NC_000006.11:g.43011255G>C	VUS	1 lab	827420529a
6:51524294 PKHD1 A>G	6	51524294	51524294	A	G	PKHD1	c.10630T>C	NM_138694.4	NP_619639.3:p.(Tyr3544His)	NC_000006.11:g.51524294A>G	VUS	1 lab	8274d82bae
14:23895083 MYH7 T>C	14	23895083	23895083	T	C	MYH7	c.2163-56A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23895083T>C	(Likely) benign	1 lab	827b8ce742
2:165947051 SCN3A C>T	2	165947051	165947051	C	T	SCN3A	c.5612G>A	NM_006922.4	NP_008853.3:p.(Arg1871Gln)	NC_000002.11:g.165947051C>T	VUS	1 lab	827e7dc492
12:111856187 SH2B3 C>T	12	111856187	111856187	C	T	SH2B3	c.238C>T	NM_005475.2	NP_005466.1:p.(Arg80Cys)	NC_000012.11:g.111856187C>T	(Likely) benign	1 lab	0c9957e4a2
1:160091015 ATP1A2 C>G	1	160091015	160091015	C	G	ATP1A2	c.151C>G	NM_000702.4	NP_000693.1:p.(Arg51Gly)	NC_000001.10:g.160091015C>G	VUS	1 lab	8284527909
6:31911909 C2 T>C	6	31911909	31911909	T	C	C2	c.1811-3T>C	NM_000063.4	NP_000054.2:p.?	NC_000006.11:g.31911909T>C	VUS	1 lab	8a96cc2830
14:23885294 MYH7 C>A	14	23885294	23885294	C	A	MYH7	c.4872G>T	NM_000257.3	NP_000248.2:p.(Glu1624Asp)	NC_000014.8:g.23885294C>A	VUS	1 lab	82865a5e59
19:13184307 NFIX C>T	19	13184307	13184307	C	T	NFIX	c.718C>T	NM_001271043.2	NP_001257972.1:p.(Gln240Ter)	NC_000019.9:g.13184307C>T	(Likely) pathogenic	1 lab	828742ca7a
5:112102928 APC G>A	5	112102928	112102928	G	A	APC	c.263G>A	NM_000038.5	NP_000029.2:p.(Arg88Gln)	NC_000005.9:g.112102928G>A	VUS	1 lab	82886ba5a8
6:32551878 HLA-DRB1 A>G	6	32551878	32551878	A	G	HLA-DRB1	c.370+8T>C	NM_002124.4	NP_002115.2:p.?	NC_000006.11:g.32551878A>G	(Likely) benign	1 lab	0514731078
1:169489812 F5 G>A	1	169489812	169489812	G	A	F5				NC_000001.10:g.169489812G>A	(Likely) pathogenic	1 lab	828d4c42a9
19:33324089 SLC7A9 G>A	19	33324089	33324089	G	A	SLC7A9	c.1365C>T	NM_014270.4	NP_055085.1:p.(Val455=)	NC_000019.9:g.33324089G>A	(Likely) benign	1 lab	828ec6bf6c
7:120455828 TSPAN12 A>T	7	120455828	120455828	A	T	TSPAN12	c.315T>A	NM_012338.3	NP_036470.1:p.(Cys105Ter)	NC_000007.13:g.120455828A>T	(Likely) pathogenic	1 lab	828f964874
X:38178127 RPGR TC>T	X	38178127	38178128	TC	T	RPGR	c.423del	NM_001034853.1	NP_001030025.1:p.(Ile142LeufsTer14)	NC_000023.10:g.38178128del	(Likely) pathogenic	1 lab	829046cced
14:23866831 MYH6 C>T	14	23866831	23866831	C	T	MYH6	c.1892-9G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23866831C>T	(Likely) benign	1 lab	829173dadd
4:169433212 PALLD C>A	4	169433212	169433212	C	A	PALLD	c.557C>A	NM_016081.4	NP_057165.3:p.(Ala186Glu)	NC_000004.11:g.169433212C>A	VUS	1 lab	051b0d5c71
10:76780376 KAT6B C>T	10	76780376	76780376	C	T	KAT6B	c.2666C>T	NM_012330.4	NP_036462.2:p.(Ser889Phe)	NC_000010.10:g.76780376C>T	VUS	1 lab	82943c72f1
8:41559697 ANK1 G>T	8	41559697	41559697	G	T	ANK1	c.2296-35C>A	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41559697G>T	(Likely) benign	1 lab	0c9c249515
3:137893559 DBR1 C>T	3	137893559	137893559	C	T	DBR1	c.79G>A	NM_016216.4	NP_057300.2:p.(Gly27Ser)	NC_000003.11:g.137893559C>T	VUS	1 lab	051e635506
2:106002797 FHL2 G>A	2	106002797	106002797	G	A	FHL2	c.156+21C>T	NM_201555.1	NP_963849.1:p.?	NC_000002.11:g.106002797G>A	(Likely) benign	1 lab	829bd7c746
13:114438039 MISSING A>G	13	114438039	114438039	A	G	MISSING				NC_000013.10:g.114438039A>G	(Likely) pathogenic	1 lab	829bf79e7a
4:656365 PDE6B A>G	4	656365	656365	A	G	PDE6B	c.1790A>G	NM_000283.3	NP_000274.2:p.(His597Arg)	NC_000004.11:g.656365A>G	VUS	1 lab	8aa4673fca
14:23993048 ZFHX2 C>T	14	23993048	23993048	C	T	ZFHX2	c.6103G>A	NM_033400.3	NP_207646.2:p.(Ala2035Thr)	NC_000014.8:g.23993048C>T	VUS	1 lab	05217a52a5
3:123008785 ADCY5 C>T	3	123008785	123008785	C	T	ADCY5	c.3344G>A	NM_183357.2	NP_899200.1:p.(Arg1115Gln)	NC_000003.11:g.123008785C>T	(Likely) benign	1 lab	829cf03aa7
11:64519926 PYGM G>C	11	64519926	64519926	G	C	PYGM	c.1569C>G	NM_005609.3	NP_005600.1:p.(Leu523=)	NC_000011.9:g.64519926G>C	(Likely) benign	1 lab	829e66c034
1:204226668 PLEKHA6 C>T	1	204226668	204226668	C	T	PLEKHA6	c.1337G>A	NM_014935.5	NP_055750.2:p.(Arg446His)	NC_000001.10:g.204226668C>T	VUS	1 lab	0521b65262
17:59885894 BRIP1 G>A	17	59885894	59885894	G	A	BRIP1	c.852C>T	NM_032043.2	NP_114432.2:p.(Val284=)	NC_000017.10:g.59885894G>A	(Likely) benign	1 lab	829fc93a9b
9:117849139 TNC G>A	9	117849139	117849139	G	A	TNC	c.871C>T	NM_002160.3	NP_002151.2:p.(Arg291Cys)	NC_000009.11:g.117849139G>A	(Likely) benign	1 lab	82a00122d9
1:215799210 USH2A A>G	1	215799210	215799210	A	G	USH2A	c.15522T>C	NM_206933.2	NP_996816.2:p.(Tyr5174=)	NC_000001.10:g.215799210A>G	(Likely) benign	1 lab	82a0d0e346
7:150649729 KCNH2 G>A	7	150649729	150649729	G	A	KCNH2	c.1341C>T	NM_000238.3	NP_000229.1:p.(Tyr447=)	NC_000007.13:g.150649729G>A	(Likely) benign	1 lab	82a71d61db
16:28911948 ATP2A1 G>A	16	28911948	28911948	G	A	ATP2A1	c.1811G>A	NM_004320.4	NP_004311.1:p.(Arg604His)	NC_000016.9:g.28911948G>A	VUS	1 lab	82aa08b508
1:5934526 NPHP4 C>T	1	5934526	5934526	C	T	NPHP4	c.3231+5G>A	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5934526C>T	VUS	1 lab	82ad1886ae
16:3706688 DNASE1 G>A	16	3706688	3706688	G	A	DNASE1	c.370G>A	NM_005223.4	NP_005214.2:p.(Glu124Lys)	NC_000016.9:g.3706688G>A	VUS	1 lab	05230dad8f
2:21242651 APOB G>C	2	21242651	21242651	G	C	APOB	c.2943C>G	NM_000384.2	NP_000375.2:p.(Tyr981Ter)	NC_000002.11:g.21242651G>C	(Likely) pathogenic	1 lab	82b20d6e98
13:32893419 BRCA2 C>T	13	32893419	32893419	C	T	BRCA2	c.273C>T	NM_000059.3	NP_000050.2:p.(Tyr91=)	NC_000013.10:g.32893419C>T	(Likely) benign	1 lab	82b7901dbd
2:179428990 TTN C>A	2	179428990	179428990	C	A	TTN	c.81869G>T	NM_001267550.2	NP_001254479.2:p.(Gly27290Val)	NC_000002.11:g.179428990C>A	VUS	1 lab	82b79f03fe
13:20763422 GJB2 T>G	13	20763422	20763422	T	G	GJB2	c.299A>C	NM_004004.5	NP_003995.2:p.(His100Pro)	NC_000013.10:g.20763422T>G	(Likely) pathogenic	1 lab	82b7e654ba
1:201046130 CACNA1S C>G	1	201046130	201046130	C	G	CACNA1S	c.1745G>C	NM_000069.2	NP_000060.2:p.(Gly582Ala)	NC_000001.10:g.201046130C>G	VUS	1 lab	82bdce3a7d
10:104353823 SUFU G>A	10	104353823	104353823	G	A	SUFU	c.756+1G>A	NM_016169.3	NP_057253.2:p.?	NC_000010.10:g.104353823G>A	(Likely) pathogenic	1 lab	82dd8c480f
20:18516367 SEC23B A>G	20	18516367	18516367	A	G	SEC23B	c.1385A>G	NM_006363.4	NP_006354.2:p.(Tyr462Cys)	NC_000020.10:g.18516367A>G	(Likely) pathogenic	1 lab	82bec22de3
2:86478980 REEP1 T>C	2	86478980	86478980	T	C	REEP1	c.417+100A>G	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86478980T>C	(Likely) benign	1 lab	82c6f4f3f9
18:19433086 MIB1 C>G	18	19433086	19433086	C	G	MIB1	c.2587-15C>G	NM_020774.2	NP_065825.1:p.?	NC_000018.9:g.19433086C>G	(Likely) benign	1 lab	82c89db2b4
1:229567376 ACTA1 G>A	1	229567376	229567376	G	A	ACTA1	c.1004C>T	NM_001100.3	NP_001091.1:p.(Pro335Leu)	NC_000001.10:g.229567376G>A	(Likely) pathogenic	1 lab	82cd3646f9
15:51868380 DMXL2 T>TA	15	51868380	51868400	T	TA	DMXL2	c.88-3dup	NM_001174116.3	NP_001167587.1:p.?	NC_000015.9:g.51868400dup	(Likely) benign	1 lab	0523177ac6
7:6027219 PMS2 CCAAATCCGCTGCAT>C	7	6027219	6027233	CCAAATCCGCTGCAT	C	PMS2	c.1163_1176del	NM_000535.7	NP_000526.2:p.(His388ArgfsTer65)	NC_000007.13:g.6027220_6027233del	(Likely) pathogenic	1 lab	82d15a7eac
X:70342362 MED12 G>A	X	70342362	70342362	G	A	MED12	c.1253G>A	NM_005120.3	NP_005111.2:p.(Arg418His)	NC_000023.10:g.70342362G>A	(Likely) benign	1 lab	0ca4979061
20:62070003 KCNQ2 C>T	20	62070003	62070003	C	T	KCNQ2	c.998G>A	NM_172107.4	NP_742105.1:p.(Arg333Gln)	NC_000020.10:g.62070003C>T	(Likely) pathogenic	1 lab	82d3ee9d9c
1:179528870 NPHS2 C>A	1	179528870	179528870	C	A	NPHS2	c.478G>T	NM_014625.3	NP_055440.1:p.(Asp160Tyr)	NC_000001.10:g.179528870C>A	VUS	1 lab	82d3ff9c53
2:149240659 MBD5 T>G	2	149240659	149240659	T	G	MBD5	c.2519-20T>G	NM_018328.4	NP_060798.2:p.?	NC_000002.11:g.149240659T>G	(Likely) benign	1 lab	0ca5a74398
2:242689701 D2HGDH C>T	2	242689701	242689701	C	T	D2HGDH	c.989C>T	NM_152783.5	NP_689996.4:p.(Pro330Leu)	NC_000002.11:g.242689701C>T	VUS	1 lab	82d88fc84c
11:62462025 BSCL2 G>T	11	62462025	62462025	G	T	BSCL2	c.630+15C>A	NM_001122955.3	NP_001116427.1:p.?	NC_000011.9:g.62462025G>T	(Likely) benign	1 lab	0ca64fad77
13:32912519 BRCA2 A>G	13	32912519	32912519	A	G	BRCA2	c.4027A>G	NM_000059.3	NP_000050.2:p.(Lys1343Glu)	NC_000013.10:g.32912519A>G	(Likely) benign	1 lab	82dc660f1a
17:29657848 NF1 A>G	17	29657848	29657848	A	G	NF1	c.5749+332A>G	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29657848A>G	(Likely) pathogenic	1 lab	82dd107fb8
1:12059058 MFN2 T>G	1	12059058	12059058	T	G	MFN2	c.722T>G	NM_014874.3	NP_055689.1:p.(Phe241Cys)	NC_000001.10:g.12059058T>G	VUS	1 lab	82dd7dc743
1:160104377 ATP1A2 G>A	1	160104377	160104377	G	A	ATP1A2	c.1931G>A	NM_000702.4	NP_000693.1:p.(Arg644Gln)	NC_000001.10:g.160104377G>A	VUS	1 lab	0524438deb
19:36211135 KMT2B G>A	19	36211135	36211135	G	A	KMT2B	c.886G>A	NM_014727.3	NP_055542.1:p.(Gly296Ser)	NC_000019.9:g.36211135G>A	(Likely) benign	1 lab	0525560486
17:1584788 PRPF8 G>A	17	1584788	1584788	G	A	PRPF8	c.850C>T	NM_006445.4	NP_006436.3:p.(Arg284Ter)	NC_000017.10:g.1584788G>A	(Likely) pathogenic	1 lab	82eb1228ed
14:78023450 SPTLC2 A>G	14	78023450	78023450	A	G	SPTLC2	c.890T>C	NM_004863.4	NP_004854.1:p.(Val297Ala)	NC_000014.8:g.78023450A>G	VUS	1 lab	82eed00eb7
5:228383 SDHA C>T	5	228383	228383	C	T	SDHA	c.705C>T	NM_004168.4	NP_004159.2:p.(Ile235=)	NC_000005.9:g.228383C>T	(Likely) benign	1 lab	82f280c701
2:167266447 SCN7A T>C	2	167266447	167266447	T	C	SCN7A	c.3712-2A>G	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167266447T>C	(Likely) benign	1 lab	82f3e946d6
X:85236744 CHM G>C	X	85236744	85236744	G	C	CHM	c.186C>G	NM_000390.4	NP_000381.1:p.(Tyr62Ter)	NC_000023.10:g.85236744G>C	(Likely) pathogenic	1 lab	82f4e54759
16:56921894 SLC12A3 T>A	16	56921894	56921894	T	A	SLC12A3	c.2236T>A	NM_000339.3	NP_000330.3:p.(Trp746Arg)	NC_000016.9:g.56921894T>A	VUS	1 lab	82f593da88
17:18024581 MYO15A TC>T	17	18024581	18024585	TC	T	MYO15A	c.2471del	NM_016239.3	NP_057323.3:p.(Pro824GlnfsTer39)	NC_000017.10:g.18024585del	(Likely) pathogenic	1 lab	82f5df934c
16:16281005 ABCC6 C>T	16	16281005	16281005	C	T	ABCC6	c.1843G>A	NM_001171.5	NP_001162.4:p.(Val615Ile)	NC_000016.9:g.16281005C>T	(Likely) benign	1 lab	82fc91738a
12:80889829 MISSING T>A	12	80889829	80889829	T	A	MISSING				NC_000012.11:g.80889829T>A	(Likely) benign	1 lab	82ff799fa0
14:24551910 NRL A>G	14	24551910	24551910	A	G	NRL	c.148T>C	NM_006177.5	NP_006168.1:p.(Ser50Pro)	NC_000014.8:g.24551910A>G	(Likely) pathogenic	1 lab	83020d48ec
2:48033378 MSH6 G>T	2	48033378	48033378	G	T	MSH6	c.3682G>T	NM_000179.2	NP_000170.1:p.(Ala1228Ser)	NC_000002.11:g.48033378G>T	VUS	1 lab	83259b5034
14:24550651 NRL G>T	14	24550651	24550651	G	T	NRL	c.508C>A	NM_006177.5	NP_006168.1:p.(Arg170Ser)	NC_000014.8:g.24550651G>T	(Likely) pathogenic	1 lab	83022e2e8a
X:111003009 ALG13 T>C	X	111003009	111003009	T	C	ALG13	c.3196T>C	NM_001099922.3	NP_001093392.1:p.(Tyr1066His)	NC_000023.10:g.111003009T>C	VUS	1 lab	0527b97dff
13:32907162 BRCA2 T>G	13	32907162	32907162	T	G	BRCA2	c.1547T>G	NM_000059.3	NP_000050.2:p.(Phe516Cys)	NC_000013.10:g.32907162T>G	(Likely) benign	1 lab	8305a27c1f
7:94257647 SGCE G>A	7	94257647	94257647	G	A	SGCE	c.365C>T	NM_001346713.1	NP_001333642.1:p.(Thr122Ile)	NC_000007.13:g.94257647G>A	VUS	1 lab	830b27f131
2:26697513 OTOF G>A	2	26697513	26697513	G	A	OTOF	c.3156C>T	NM_194248.2	NP_919224.1:p.(Phe1052=)	NC_000002.11:g.26697513G>A	(Likely) benign	1 lab	830df24f46
19:13319736 CACNA1A C>T	19	13319736	13319736	C	T	CACNA1A	c.6632G>A	NM_023035.2	NP_075461.2:p.(Arg2211Gln)	NC_000019.9:g.13319736C>T	VUS	1 lab	830e1c81cf
2:179394820 TTN A>G	2	179394820	179394820	A	G	TTN	c.106398T>C	NM_001267550.2	NP_001254479.2:p.(Tyr35466=)	NC_000002.11:g.179394820A>G	(Likely) benign	1 lab	831123601d
5:112175487 APC GT>G	5	112175487	112175489	GT	G	APC	c.4198del	NM_000038.6	NP_000029.2:p.(Ser1400ArgfsTer15)	NC_000005.9:g.112175489del	(Likely) pathogenic	1 lab	8312d43e25
6:64431321 EYS G>C	6	64431321	64431321	G	C	EYS	c.8606C>G	NM_001142800.2	NP_001136272.1:p.(Ser2869Ter)	NC_000006.11:g.64431321G>C	(Likely) pathogenic	1 lab	8313acb4e3
14:23866146 MYH6 G>C	14	23866146	23866146	G	C	MYH6	c.2168+26C>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23866146G>C	(Likely) benign	1 lab	8313ee0605
15:43896559 STRC C>T	15	43896559	43896559	C	T	STRC	c.4218G>A	NM_153700.2	NP_714544.1:p.(Arg1406=)	NC_000015.9:g.43896559C>T	VUS	1 lab	831bce37bf
2:39250272 SOS1 C>T	2	39250272	39250272	C	T	SOS1	c.1297G>A	NM_005633.3	NP_005624.2:p.(Glu433Lys)	NC_000002.11:g.39250272C>T	(Likely) pathogenic	1 lab	831bf34ca9
3:43618337 ANO10 A>C	3	43618337	43618337	A	C	ANO10	c.1009T>G	NM_018075.3	NP_060545.3:p.(Phe337Val)	NC_000003.11:g.43618337A>C	VUS	1 lab	8320d7ac55
2:32289261 SPAST A>T	2	32289261	32289261	A	T	SPAST	c.361A>T	NM_014946.3	NP_055761.2:p.(Lys121Ter)	NC_000002.11:g.32289261A>T	(Likely) pathogenic	1 lab	8327e4d7f9
19:1207092 STK11 C>G	19	1207092	1207092	C	G	STK11	c.180C>G	NM_000455.4	NP_000446.1:p.(Tyr60Ter)	NC_000019.9:g.1207092C>G	(Likely) pathogenic	1 lab	832c040331
5:140957897 DIAPH1 A>G	5	140957897	140957897	A	G	DIAPH1	c.1058T>C	NM_005219.4	NP_005210.3:p.(Ile353Thr)	NC_000005.9:g.140957897A>G	(Likely) benign	1 lab	832cc2343d
1:228521002 OBSCN C>A	1	228521002	228521002	C	A	OBSCN	c.18705C>A	NM_001271223.2	NP_001258152.2:p.(Ala6235=)	NC_000001.10:g.228521002C>A	(Likely) benign	1 lab	83334bffe5
3:38797331 SCN10A G>T	3	38797331	38797331	G	T	SCN10A	c.1409C>A	NM_006514.4	NP_006505.4:p.(Ser470Tyr)	NC_000003.11:g.38797331G>T	(Likely) benign	1 lab	8334619602
2:166237865 SCN2A T>G	2	166237865	166237865	T	G	SCN2A	c.4551+158T>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166237865T>G	(Likely) benign	1 lab	0cbb5cae17
17:57763044 CLTC G>C	17	57763044	57763044	G	C	CLTC	c.4702G>C	NM_004859.4	NP_004850.1:p.(Ala1568Pro)	NC_000017.10:g.57763044G>C	VUS	1 lab	8335b24fdc
14:24709701 GMPR2 T>TA	14	24709701	24709702	T	TA	GMPR2				NC_000014.8:g.24709702dup	(Likely) pathogenic	1 lab	84340e665b
14:35182752 CFL2 C>T	14	35182752	35182752	C	T	CFL2	c.19G>A	NM_138638.5	NP_619579.1:p.(Val7Met)	NC_000014.8:g.35182752C>T	VUS	1 lab	8335b6fbc5
5:112175378 APC A>T	5	112175378	112175378	A	T	APC	c.4087A>T	NM_000038.5	NP_000029.2:p.(Lys1363Ter)	NC_000005.9:g.112175378A>T	(Likely) pathogenic	1 lab	8339501706
14:23885512 MYH7 C>A	14	23885512	23885512	C	A	MYH7	c.4654G>T	NM_000257.3	NP_000248.2:p.(Glu1552Ter)	NC_000014.8:g.23885512C>A	VUS	1 lab	833d3be8a5
X:48934353 WDR45 C>G	X	48934353	48934353	C	G	WDR45	c.295G>C	NM_007075.3	NP_009006.2:p.(Glu99Gln)	NC_000023.10:g.48934353C>G	VUS	1 lab	833dd7db99
7:140453136 BRAF A>C	7	140453136	140453136	A	C	BRAF	c.1799T>G	NM_004333.6	NP_004324.2:p.(Val600Gly)	NC_000007.13:g.140453136A>C	(Likely) pathogenic	1 lab	833e88e805
5:112137010 APC A>G	5	112137010	112137010	A	G	APC	c.764A>G	NM_000038.5	NP_000029.2:p.(His255Arg)	NC_000005.9:g.112137010A>G	(Likely) benign	1 lab	833fec1431
3:38691021 SCN5A C>T	3	38691021	38691021	C	T	SCN5A	c.-53+1G>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38691021C>T	VUS	1 lab	8c38e271fe
17:17119711 FLCN G>T	17	17119711	17119711	G	T	FLCN	c.1283C>A	NM_144997.7	NP_659434.2:p.(Pro428His)	NC_000017.10:g.17119711G>T	(Likely) benign	1 lab	8344baf845
11:64974295 CAPN1 G>A	11	64974295	64974295	G	A	CAPN1	c.1605+5G>A	NM_005186.4	NP_005177.2:p.?	NC_000011.9:g.64974295G>A	(Likely) pathogenic	1 lab	83451ded7c
1:241669377 FH G>A	1	241669377	241669377	G	A	FH				NC_000001.10:g.241669377G>A	(Likely) pathogenic	1 lab	83462d2a8d
2:241817519 AGXT C>A	2	241817519	241817519	C	A	AGXT	c.1023C>A	NM_000030.3	NP_000021.1:p.(Asp341Glu)	NC_000002.11:g.241817519C>A	(Likely) benign	1 lab	0cbb867866
5:228373 SDHA G>A	5	228373	228373	G	A	SDHA	c.695G>A	NM_004168.3	NP_004159.2:p.(Arg232His)	NC_000005.9:g.228373G>A	(Likely) benign	1 lab	835064fc1a
X:49855147 CLCN5 C>T	X	49855147	49855147	C	T	CLCN5	c.1909C>T	NM_000084.2	NP_000075.1:p.(Arg637Ter)	NC_000023.10:g.49855147C>T	(Likely) pathogenic	1 lab	8351d85823
4:187627839 FAT1 G>A	4	187627839	187627839	G	A	FAT1	c.3143C>T	NM_005245.3	NP_005236.2:p.(Pro1048Leu)	NC_000004.11:g.187627839G>A	VUS	1 lab	8355301014
3:11075425 SLC6A1 G>A	3	11075425	11075425	G	A	SLC6A1	c.1527G>A	NM_003042.3	NP_003033.3:p.(Ala509=)	NC_000003.11:g.11075425G>A	VUS	1 lab	8355ba2e54
7:81799912 CACNA2D1 T>C	7	81799912	81799912	T	C	CACNA2D1	c.308A>G	NM_000722.2	NP_000713.2:p.(Glu103Gly)	NC_000007.13:g.81799912T>C	(Likely) benign	1 lab	8358f83dd1
18:2775873 SMCHD1 G>C	18	2775873	2775873	G	C	SMCHD1	c.5317G>C	NM_015295.2	NP_056110.2:p.(Val1773Leu)	NC_000018.9:g.2775873G>C	VUS	1 lab	835939db8c
7:140453148 BRAF C>A	7	140453148	140453148	C	A	BRAF	c.1787G>T	NM_004333.4	NP_004324.2:p.(Gly596Val)	NC_000007.13:g.140453148C>A	(Likely) pathogenic	1 lab	835ae5eb56
9:5089726 JAK2 C>A	9	5089726	5089726	C	A	JAK2	c.2624C>A	NM_004972.4	NP_004963.1:p.(Thr875Asn)	NC_000009.11:g.5089726C>A	(Likely) pathogenic	1 lab	835b011fc2
7:136700726 CHRM2 C>G	7	136700726	136700726	C	G	CHRM2	c.1114C>G	NM_000739.3	NP_000730.1:p.(Pro372Ala)	NC_000007.13:g.136700726C>G	VUS	1 lab	052e175ab1
3:14183123 TMEM43 T>G	3	14183123	14183123	T	G	TMEM43	c.1031T>G	NM_024334.2	NP_077310.1:p.(Val344Gly)	NC_000003.11:g.14183123T>G	VUS	1 lab	835d2124d7
19:55438944 NLRP7 C>A	19	55438944	55438944	C	A	NLRP7	c.2981+29G>T	NM_001127255.1	NP_001120727.1:p.?	NC_000019.9:g.55438944C>A	(Likely) benign	1 lab	0cbf3cdd0d
8:11566419 GATA4 G>T	8	11566419	11566419	G	T	GATA4	c.598G>T	NM_002052.4	NP_002043.2:p.(Ala200Ser)	NC_000008.10:g.11566419G>T	(Likely) benign	1 lab	83607b9208
3:11067157 SLC6A1 A>G	3	11067157	11067157	A	G	SLC6A1	c.737A>G	NM_003042.3	NP_003033.3:p.(Tyr246Cys)	NC_000003.11:g.11067157A>G	VUS	1 lab	83620b9ae8
1:7723488 CAMTA1 CA>C	1	7723488	7723489	CA	C	CAMTA1	c.882del	NM_015215.3	NP_056030.1:p.(Tyr297ThrfsTer93)	NC_000001.10:g.7723489del	(Likely) pathogenic	1 lab	8365ac4341
12:25398243 KRAS T>A	12	25398243	25398243	T	A	KRAS	c.76A>T	NM_004985.5	NP_004976.2:p.(Asn26Tyr)	NC_000012.11:g.25398243T>A	(Likely) pathogenic	1 lab	83662bce38
2:9630658 ADAM17 A>G	2	9630658	9630658	A	G	ADAM17	c.2134-11T>C	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9630658A>G	(Likely) benign	1 lab	936ce11d01
3:38738943 SCN10A C>T	3	38738943	38738943	C	T	SCN10A	c.5768G>A	NM_006514.3	NP_006505.3:p.(Ser1923Asn)	NC_000003.11:g.38738943C>T	VUS	1 lab	83695068e5
10:81923137 ANXA11 C>T	10	81923137	81923137	C	T	ANXA11	c.1054G>A	NM_001157.3	NP_001148.1:p.(Val352Met)	NC_000010.10:g.81923137C>T	VUS	1 lab	836d0e0402
1:161298193 SDHC C>G	1	161298193	161298193	C	G	SDHC	c.85C>G	NM_003001.5	NP_002992.1:p.(Pro29Ala)	NC_000001.10:g.161298193C>G	VUS	1 lab	836f359f00
2:220285061 DES A>G	2	220285061	220285061	A	G	DES	c.728A>G	NM_001927.4	NP_001918.3:p.(His243Arg)	NC_000002.11:g.220285061A>G	VUS	1 lab	05327ef5bd
2:179615397 TTN G>A	2	179615397	179615397	G	A	TTN	c.11311+2454C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615397G>A	(Likely) benign	1 lab	83780d8c15
12:23893905 SOX5 G>A	12	23893905	23893905	G	A	SOX5	c.637C>T	NM_006940.6	NP_008871.3:p.(Arg213Ter)	NC_000012.11:g.23893905G>A	(Likely) pathogenic	1 lab	837b8a12a5
5:112175408 APC CCTGAACACTATGTTCAGGAGACCCCA>C	5	112175408	112175436	CCTGAACACTATGTTCAGGAGACCCCA	C	APC	c.4120_4145del	NM_000038.6	NP_000029.2:p.(Glu1374HisfsTer3)	NC_000005.9:g.112175411_112175436del	(Likely) pathogenic	1 lab	837bdd4ebc
1:10042376 NMNAT1 C>G	1	10042376	10042376	C	G	NMNAT1	c.457C>G	NM_022787.3	NP_073624.2:p.(Leu153Val)	NC_000001.10:g.10042376C>G	(Likely) pathogenic	1 lab	83805c79be
11:119548321 NECTIN1 C>A	11	119548321	119548321	C	A	NECTIN1				NC_000011.9:g.119548321C>A	VUS	1 lab	847b7fc8e1
10:95400285 PDE6C G>A	10	95400285	95400285	G	A	PDE6C	c.1708G>A	NM_006204.4	NP_006195.3:p.(Val570Met)	NC_000010.10:g.95400285G>A	VUS	1 lab	83827d551f
6:151738448 RMND1 G>C	6	151738448	151738448	G	C	RMND1	c.1166C>G	NM_017909.3	NP_060379.2:p.(Thr389Arg)	NC_000006.11:g.151738448G>C	VUS	1 lab	83837d7197
8:100887815 VPS13B T>TG	8	100887815	100887816	T	TG	VPS13B	c.11915_11916insG	NM_152564.5	NP_689777.3:p.(Asp3973Ter)	NC_000008.10:g.100887815_100887816insG	(Likely) pathogenic	1 lab	8384b32a0b
13:100634794 ZIC2 TC>T	13	100634794	100634797	TC	T	ZIC2	c.479del	NM_007129.3	NP_009060.2:p.(Pro160ArgfsTer58)	NC_000013.10:g.100634797del	(Likely) pathogenic	1 lab	8384f9c0ef
19:38989874 RYR1 T>C	19	38989874	38989874	T	C	RYR1	c.7018T>C	NM_000540.2	NP_000531.2:p.(Phe2340Leu)	NC_000019.9:g.38989874T>C	VUS	1 lab	8386841d9c
12:70004583 LRRC10 G>A	12	70004583	70004583	G	A	LRRC10	c.36C>T	NM_201550.3	NP_963844.2:p.(Ile12=)	NC_000012.11:g.70004583G>A	(Likely) benign	1 lab	838b490880
5:112175287 APC CAAATCCAG>C	5	112175287	112175295	CAAATCCAG	C	APC	c.3997_4004del	NM_000038.6	NP_000029.2:p.(Lys1333GlnfsTer6)	NC_000005.9:g.112175288_112175295del	(Likely) pathogenic	1 lab	838d6170bb
X:47436881 SYN1 G>A	X	47436881	47436881	G	A	SYN1	c.794C>T	NM_006950.3	NP_008881.2:p.(Pro265Leu)	NC_000023.10:g.47436881G>A	VUS	1 lab	838db53d88
5:121409740 LOX GGTAGCCATAGT>G	5	121409740	121409751	GGTAGCCATAGT	G	LOX	c.992_1002del	NM_002317.7	NP_002308.2:p.(Asp331AlafsTer19)	NC_000005.9:g.121409741_121409751del	(Likely) pathogenic	1 lab	05349b15bf
16:3293577 MEFV T>C	16	3293577	3293577	T	C	MEFV	c.1910A>G	NM_000243.2	NP_000234.1:p.(Asp637Gly)	NC_000016.9:g.3293577T>C	VUS	1 lab	0cc07bd489
2:179642642 TTN T>G	2	179642642	179642642	T	G	TTN	c.4269A>C	NM_001267550.2	NP_001254479.2:p.(Ser1423=)	NC_000002.11:g.179642642T>G	(Likely) benign	1 lab	839f59b3eb
1:207959039 CD46 C>T	1	207959039	207959039	C	T	CD46	c.1127+12C>T	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207959039C>T	(Likely) benign	1 lab	83a1b704eb
17:60685471 TLK2 C>T	17	60685471	60685471	C	T	TLK2	c.2041C>T	NM_006852.6	NP_006843.2:p.(Gln681Ter)	NC_000017.10:g.60685471C>T	(Likely) pathogenic	1 lab	83a482a850
6:151754273 RMND1 T>C	6	151754273	151754273	T	C	RMND1	c.689+17A>G	NM_017909.3	NP_060379.2:p.?	NC_000006.11:g.151754273T>C	(Likely) benign	1 lab	83a500bbe4
4:114282005 ANK2 G>A	4	114282005	114282005	G	A	ANK2	c.10708G>A	NM_001148.5	NP_001139.3:p.(Glu3570Lys)	NC_000004.11:g.114282005G>A	VUS	1 lab	83a6af784f
11:76823722 CAPN5 G>A	11	76823722	76823722	G	A	CAPN5	c.385G>A	NM_004055.4	NP_004046.2:p.(Gly129Arg)	NC_000011.9:g.76823722G>A	VUS	1 lab	83a71295c8
10:76732345 KAT6B C>T	10	76732345	76732345	C	T	KAT6B	c.1009C>T	NM_012330.3	NP_036462.2:p.(Arg337Ter)	NC_000010.10:g.76732345C>T	(Likely) pathogenic	1 lab	83a87ec590
3:37041320 MLH1 C>A	3	37041320	37041320	C	A	MLH1	c.208-1126C>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37041320C>A	(Likely) benign	1 lab	83ab0dc304
5:77471429 AP3B1 G>GA	5	77471429	77471434	G	GA	AP3B1	c.1167+20dup	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77471434dup	(Likely) benign	1 lab	0cc3e6430f
22:36701134 MYH9 G>C	22	36701134	36701134	G	C	MYH9	c.2174C>G	NM_002473.4	NP_002464.1:p.(Thr725Ser)	NC_000022.10:g.36701134G>C	VUS	1 lab	83b02a646f
14:64687181 SYNE2 C>A	14	64687181	64687181	C	A	SYNE2	c.19887C>A	NM_182914.2	NP_878918.2:p.(Tyr6629Ter)	NC_000014.8:g.64687181C>A	(Likely) pathogenic	1 lab	83b0411b28
7:156802351 MNX1 C>A	7	156802351	156802351	C	A	MNX1	c.691+3G>T	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156802351C>A	(Likely) pathogenic	1 lab	83b2bfb96d
17:63204074 RGS9 A>G	17	63204074	63204074	A	G	RGS9				NC_000017.10:g.63204074A>G	VUS	1 lab	846fd2d020
1:94476890 ABCA4 G>C	1	94476890	94476890	G	C	ABCA4	c.5512C>G	NM_000350.2	NP_000341.2:p.(His1838Asp)	NC_000001.10:g.94476890G>C	VUS	1 lab	83b4893473
3:38595989 SCN5A C>T	3	38595989	38595989	C	T	SCN5A				NC_000003.11:g.38595989C>T	(Likely) benign	1 lab	83b642f0ca
6:119136718 MCM9 G>A	6	119136718	119136718	G	A	MCM9	c.2701C>T	NM_017696.3	NP_060166.2:p.(Gln901Ter)	NC_000006.11:g.119136718G>A	VUS	1 lab	053584b0fb
12:133226016 POLE C>CGCT	12	133226016	133226021	C	CGCT	POLE	c.3878_3880dup	NM_006231.4	NP_006222.2:p.(Gln1293dup)	NC_000012.11:g.133226019_133226021dup	VUS	1 lab	0535cc1e59
17:41243988 BRCA1 C>T	17	41243988	41243988	C	T	BRCA1	c.3560G>A	NM_007294.4	NP_009225.1:p.(Ser1187Asn)	NC_000017.10:g.41243988C>T	(Likely) benign	1 lab	83c2f7a046
17:76113954 TMC6 G>A	17	76113954	76113954	G	A	TMC6	c.1950C>T	NM_001127198.2	NP_001120670.1:p.(Thr650=)	NC_000017.10:g.76113954G>A	(Likely) benign	1 lab	83c40f33ae
2:96930929 TMEM127 T>C	2	96930929	96930929	T	C	TMEM127	c.191A>G	NM_017849.3	NP_060319.1:p.(Gln64Arg)	NC_000002.11:g.96930929T>C	(Likely) benign	1 lab	83c4fd32c0
22:51133241 SHANK3 C>T	22	51133241	51133241	C	T	SHANK3	c.1294C>T	NM_001372044.2	NP_001358973.1:p.(Arg432Ter)	NC_000022.10:g.51133241C>T	(Likely) pathogenic	1 lab	83c4ffc2f7
16:31235840 TRIM72 C>T	16	31235840	31235840	C	T	TRIM72	c.1198C>T	NM_001008274.3	NP_001008275.2:p.(Pro400Ser)	NC_000016.9:g.31235840C>T	(Likely) benign	1 lab	83c503f7d6
12:58144768 CDK4 C>G	12	58144768	58144768	C	G	CDK4	c.460G>C	NM_000075.4	NP_000066.1:p.(Val154Leu)	NC_000012.11:g.58144768C>G	VUS	1 lab	83c7b67903
X:48762678 SLC35A2 C>G	X	48762678	48762678	C	G	SLC35A2	c.508G>C	NM_005660.1	NP_005651.1:p.(Ala170Pro)	NC_000023.10:g.48762678C>G	VUS	1 lab	83c80b775f
7:141341705 AGK G>A	7	141341705	141341705	G	A	AGK	c.972G>A	NM_018238.3	NP_060708.1:p.(Pro324=)	NC_000007.13:g.141341705G>A	(Likely) benign	1 lab	83c9372354
1:156106725 LMNA G>A	1	156106725	156106725	G	A	LMNA				NC_000001.10:g.156106725G>A	(Likely) pathogenic	1 lab	83c999b800
1:197404145 CRB1 G>A	1	197404145	197404145	G	A	CRB1				NC_000001.10:g.197404145G>A	(Likely) pathogenic	1 lab	8b6823a69b
2:171673475 GAD1 G>A	2	171673475	171673475	G	A	GAD1	c.-147G>A	NM_000817.2	NP_000808.2:p.?	NC_000002.11:g.171673475G>A	(Likely) benign	1 lab	83cec75a46
14:74422201 COQ6 C>T	14	74422201	74422201	C	T	COQ6	c.346C>T	NM_182476.3	NP_872282.1:p.(Arg116Trp)	NC_000014.8:g.74422201C>T	VUS	1 lab	83cf31fad7
15:43908298 STRC C>G	15	43908298	43908298	C	G	STRC	c.1466G>C	NM_153700.2	NP_714544.1:p.(Ser489Thr)	NC_000015.9:g.43908298C>G	VUS	1 lab	83d08f9672
3:37035105 MLH1 G>T	3	37035105	37035105	G	T	MLH1	c.67G>T	NM_000249.3	NP_000240.1:p.(Glu23Ter)	NC_000003.11:g.37035105G>T	(Likely) pathogenic	1 lab	83d111e89d
X:39921444 BCOR T>C	X	39921444	39921444	T	C	BCOR	c.4376A>G	NM_001123385.2	NP_001116857.1:p.(Asn1459Ser)	NC_000023.10:g.39921444T>C	VUS	1 lab	83d144e07e
X:12728585 FRMPD4 G>A	X	12728585	12728585	G	A	FRMPD4				NC_000023.10:g.12728585G>A	(Likely) benign	1 lab	83d43b5dcd
17:33325299 LIG3 T>G	17	33325299	33325299	T	G	LIG3				NC_000017.10:g.33325299T>G	VUS	1 lab	83d5d0affd
22:38122448 TRIOBP C>T	22	38122448	38122448	C	T	TRIOBP	c.3885C>T	NM_001039141.2	NP_001034230.1:p.(Ser1295=)	NC_000022.10:g.38122448C>T	(Likely) benign	1 lab	83d6398372
12:6058175 VWF G>C	12	6058175	6058175	G	C	VWF	c.*6C>G	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6058175G>C	(Likely) benign	1 lab	83d6a49d91
16:68835872 CDH1 C>A	16	68835872	68835872	C	A	CDH1	c.387+76C>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68835872C>A	(Likely) benign	1 lab	83d91bb707
7:130038738 CEP41 C>T	7	130038738	130038738	C	T	CEP41	c.1116G>A	NM_018718.3	NP_061188.1:p.(Trp372Ter)	NC_000007.13:g.130038738C>T	VUS	1 lab	0536ad52b9
21:43796636 TMPRSS3 C>T	21	43796636	43796636	C	T	TMPRSS3	c.1194+14G>A	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43796636C>T	(Likely) benign	1 lab	83db4d9fb5
17:7579349 TP53 A>C	17	7579349	7579349	A	C	TP53	c.338T>G	NM_000546.6	NP_000537.3:p.(Phe113Cys)	NC_000017.10:g.7579349A>C	VUS	1 lab	83dd819d82
10:78651336 KCNMA1 G>A	10	78651336	78651336	G	A	KCNMA1	c.3289C>T	NM_001161352.2	NP_001154824.1:p.(Arg1097Cys)	NC_000010.10:g.78651336G>A	(Likely) pathogenic	1 lab	83dd9f2f92
2:152536234 NEB C>T	2	152536234	152536234	C	T	NEB	c.3255+1G>A	NM_004543.4	NP_004534.2:p.?	NC_000002.11:g.152536234C>T	(Likely) pathogenic	1 lab	83e35204a6
10:43615505 RET G>A	10	43615505	43615505	G	A	RET	c.2608-24G>A	NM_020975.4	NP_066124.1:p.?	NC_000010.10:g.43615505G>A	(Likely) benign	1 lab	83e670aa41
14:31597857 HECTD1 T>G	14	31597857	31597857	T	G	HECTD1	c.4720A>C	NM_015382.4	NP_056197.3:p.(Asn1574His)	NC_000014.8:g.31597857T>G	VUS	1 lab	05371e7009
7:140453136 BRAF A>T	7	140453136	140453136	A	T	BRAF	c.1799T>A	NM_004333.6	NP_004324.2:p.(Val600Glu)	NC_000007.13:g.140453136A>T	(Likely) pathogenic	1 lab	83eda5b754
1:209969821 IRF6 C>T	1	209969821	209969821	C	T	IRF6	c.251G>A	NM_006147.4	NP_006138.1:p.(Arg84His)	NC_000001.10:g.209969821C>T	(Likely) pathogenic	1 lab	38915e4b73
8:65528273 CYP7B1 A>T	8	65528273	65528273	A	T	CYP7B1	c.825T>A	NM_004820.4	NP_004811.1:p.(Tyr275Ter)	NC_000008.10:g.65528273A>T	(Likely) pathogenic	1 lab	83f268ce67
16:2812972 SRRM2 A>G	16	2812972	2812972	A	G	SRRM2	c.2443A>G	NM_016333.3	NP_057417.3:p.(Ser815Gly)	NC_000016.9:g.2812972A>G	VUS	1 lab	83f281495a
2:48027160 MSH6 GC>G	2	48027160	48027163	GC	G	MSH6	c.2041del	NM_000179.2	NP_000170.1:p.(Leu681SerfsTer4)	NC_000002.11:g.48027163del	(Likely) pathogenic	1 lab	83f53bb4cf
2:122288544 RNU4ATAC A>G	2	122288544	122288544	A	G	RNU4ATAC	n.89A>G	NR_023343.1		NC_000002.11:g.122288544A>G	VUS	1 lab	0538e0c9b4
15:93547886 CHD2 C>T	15	93547886	93547886	C	T	CHD2	c.4318C>T	NM_001271.3	NP_001262.3:p.(Arg1440Ter)	NC_000015.9:g.93547886C>T	(Likely) pathogenic	1 lab	83f8022153
2:128186243 PROC G>A	2	128186243	128186243	G	A	PROC	c.1107G>A	NM_000312.3	NP_000303.1:p.(Pro369=)	NC_000002.11:g.128186243G>A	(Likely) benign	1 lab	83f83ded5f
3:119101210 ARHGAP31 G>A	3	119101210	119101210	G	A	ARHGAP31	c.503G>A	NM_020754.4	NP_065805.2:p.(Arg168Gln)	NC_000003.11:g.119101210G>A	(Likely) benign	1 lab	053a069c95
17:27068167 NEK8 C>T	17	27068167	27068167	C	T	NEK8	c.1804C>T	NM_178170.2	NP_835464.1:p.(Arg602Trp)	NC_000017.10:g.27068167C>T	(Likely) pathogenic	1 lab	83faa77957
X:54482153 FGD1 C>T	X	54482153	54482153	C	T	FGD1	c.1907G>A	NM_004463.3	NP_004454.2:p.(Arg636Gln)	NC_000023.10:g.54482153C>T	(Likely) benign	1 lab	83fcddab21
2:111399251 BUB1 C>CAAT	2	111399251	111399252	C	CAAT	BUB1				NC_000002.11:g.111399251_111399252insAAT	VUS	1 lab	84fd67a243
14:23858161 MYH6 C>T	14	23858161	23858161	C	T	MYH6	c.4082G>A	NM_002471.3	NP_002462.2:p.(Arg1361His)	NC_000014.8:g.23858161C>T	(Likely) benign	1 lab	83fd55462d
11:103070102 DYNC2H1 G>A	11	103070102	103070102	G	A	DYNC2H1	c.7985G>A	NM_001080463.1	NP_001073932.1:p.(Arg2662Gln)	NC_000011.9:g.103070102G>A	(Likely) pathogenic	1 lab	83fdcbbef3
X:107908818 COL4A5 G>A	X	107908818	107908818	G	A	COL4A5	c.3454+1G>A	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107908818G>A	(Likely) pathogenic	1 lab	83fdd5e318
7:143027906 CLCN1 G>C	7	143027906	143027906	G	C	CLCN1	c.895G>C	NM_000083.2	NP_000074.2:p.(Val299Leu)	NC_000007.13:g.143027906G>C	VUS	1 lab	83fe6fa8db
5:112174394 APC C>T	5	112174394	112174394	C	T	APC	c.3103C>T	NM_000038.5	NP_000029.2:p.(Gln1035Ter)	NC_000005.9:g.112174394C>T	(Likely) pathogenic	1 lab	83ff9bbaaa
17:7097309 DLG4 G>A	17	7097309	7097309	G	A	DLG4				NC_000017.10:g.7097309G>A	(Likely) pathogenic	1 lab	8ce69e2071
4:79434703 FRAS1 T>C	4	79434703	79434703	T	C	FRAS1	c.10171T>C	NM_025074.7	NP_079350.5:p.(Ser3391Pro)	NC_000004.11:g.79434703T>C	VUS	1 lab	0540948e5e
1:233231515 PCNX2 A>T	1	233231515	233231515	A	T	PCNX2	c.3932T>A	NM_014801.3	NP_055616.3:p.(Leu1311His)	NC_000001.10:g.233231515A>T	VUS	1 lab	8400c33f1c
3:11059063 SLC6A1 T>C	3	11059063	11059063	T	C	SLC6A1	c.166T>C	NM_003042.3	NP_003033.3:p.(Ser56Pro)	NC_000003.11:g.11059063T>C	(Likely) pathogenic	1 lab	840357fa70
10:102506062 PAX2 T>C	10	102506062	102506062	T	C	PAX2	c.43+2T>C	NM_003990.5	NP_003981.3:p.?	NC_000010.10:g.102506062T>C	(Likely) pathogenic	1 lab	84059c3aa7
16:67687014 CARMIL2 A>G	16	67687014	67687014	A	G	CARMIL2	c.2977A>G	NM_001013838.3	NP_001013860.1:p.(Ser993Gly)	NC_000016.9:g.67687014A>G	(Likely) benign	1 lab	0cc49fd07b
16:56947187 SLC12A3 T>C	16	56947187	56947187	T	C	SLC12A3	c.2963T>C	NM_000339.2	NP_000330.2:p.(Ile988Thr)	NC_000016.9:g.56947187T>C	VUS	1 lab	8406aafdbc
8:10480211 RP1L1 T>C	8	10480211	10480211	T	C	RP1L1	c.501A>G	NM_178857.6	NP_849188.4:p.(Thr167=)	NC_000008.10:g.10480211T>C	(Likely) benign	1 lab	84077702ab
12:110230497 TRPV4 CCA>C	12	110230497	110230500	CCA	C	TRPV4	c.1782_1783del	NM_021625.5	NP_067638.3:p.(Gly595AlafsTer8)	NC_000012.11:g.110230499_110230500del	VUS	1 lab	840a5ef394
1:41284294 KCNQ4 T>G	1	41284294	41284294	T	G	KCNQ4	c.650T>G	NM_004700.3	NP_004691.2:p.(Met217Arg)	NC_000001.10:g.41284294T>G	(Likely) pathogenic	1 lab	8410db93cd
11:108180989 ATM A>G	11	108180989	108180989	A	G	ATM	c.5865A>G	NM_000051.4	NP_000042.3:p.(Leu1955=)	NC_000011.9:g.108180989A>G	(Likely) benign	1 lab	8411958969
16:89246716 CDH15 G>A	16	89246716	89246716	G	A	CDH15	c.310G>A	NM_004933.3	NP_004924.1:p.(Val104Ile)	NC_000016.9:g.89246716G>A	VUS	1 lab	0547a6ce29
3:38751005 SCN10A C>T	3	38751005	38751005	C	T	SCN10A	c.4245G>A	NM_006514.4	NP_006505.4:p.(Gly1415=)	NC_000003.11:g.38751005C>T	(Likely) benign	1 lab	842232f1ba
5:1294028 TERT A>C	5	1294028	1294028	A	C	TERT	c.973T>G	NM_198253.3	NP_937983.2:p.(Tyr325Asp)	NC_000005.9:g.1294028A>C	VUS	1 lab	84259c1fd0
1:154580474 ADAR C>T	1	154580474	154580474	C	T	ADAR	c.9G>A	NM_001111.5	NP_001102.3:p.(Pro3=)	NC_000001.10:g.154580474C>T	(Likely) benign	1 lab	0cc77a2f14
12:90004245 ATP2B1 C>G	12	90004245	90004245	C	G	ATP2B1	c.2288G>C	NM_001366521.1	NP_001353450.1:p.(Arg763Pro)	NC_000012.11:g.90004245C>G	(Likely) pathogenic	1 lab	842a57471a
5:112136993 APC G>GCT	5	112136993	112136995	G	GCT	APC	c.748_749insTC	NM_000038.5	NP_000029.2:p.(His250LeufsTer44)	NC_000005.9:g.112136994_112136995insTC	(Likely) pathogenic	1 lab	842c7df3f6
6:32006337 CYP21A2 C>A	6	32006337	32006337	C	A	CYP21A2				NC_000006.11:g.32006337C>A	(Likely) benign	1 lab	842ec4dbee
5:39331846 C9 G>A	5	39331846	39331846	G	A	C9	c.547C>T	NM_001737.5	NP_001728.1:p.(Arg183Trp)	NC_000005.9:g.39331846G>A	(Likely) benign	1 lab	05509076e8
7:5568899 ACTB A>G	7	5568899	5568899	A	G	ACTB	c.256T>C	NM_001101.4	NP_001092.1:p.(Trp86Arg)	NC_000007.13:g.5568899A>G	(Likely) pathogenic	1 lab	84317f72c4
22:29095882 CHEK2 G>A	22	29095882	29095882	G	A	CHEK2	c.952C>T	NM_007194.3	NP_009125.1:p.(Arg318Cys)	NC_000022.10:g.29095882G>A	VUS	1 lab	8433f1a53f
2:238270380 COL6A3 A>G	2	238270380	238270380	A	G	COL6A3	c.6156+2T>C	NM_004369.3	NP_004360.2:p.?	NC_000002.11:g.238270380A>G	(Likely) pathogenic	1 lab	84355fedca
2:227890516 COL4A4 A>C	2	227890516	227890516	A	C	COL4A4	c.4090+2T>G	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227890516A>C	(Likely) pathogenic	1 lab	8435c9bba6
6:116441322 COL10A1 G>A	6	116441322	116441322	G	A	COL10A1	c.1957C>T	NM_000493.4	NP_000484.2:p.(Gln653Ter)	NC_000006.11:g.116441322G>A	(Likely) pathogenic	1 lab	8435dfe211
15:73622071 HCN4 C>A	15	73622071	73622071	C	A	HCN4	c.1433G>T	NM_005477.3	NP_005468.1:p.(Cys478Phe)	NC_000015.9:g.73622071C>A	(Likely) pathogenic	1 lab	8439252e9f
12:111962993 ATXN2 T>A	12	111962993	111962993	T	A	ATXN2	c.1176+3A>T	NM_002973.3	NP_002964.3:p.?	NC_000012.11:g.111962993T>A	VUS	1 lab	843a0bca2c
7:116423501 MET A>G	7	116423501	116423501	A	G	MET	c.3776A>G	NM_000245.2	NP_000236.2:p.(Lys1259Arg)	NC_000007.13:g.116423501A>G	VUS	1 lab	843b99f595
3:11059120 SLC6A1 G>A	3	11059120	11059120	G	A	SLC6A1	c.223G>A	NM_003042.4	NP_003033.3:p.(Gly75Arg)	NC_000003.11:g.11059120G>A	(Likely) pathogenic	1 lab	843db686ad
11:17655765 OTOG C>T	11	17655765	17655765	C	T	OTOG	c.7453C>T	NM_001277269.1	NP_001264198.1:p.(Arg2485Ter)	NC_000011.9:g.17655765C>T	(Likely) pathogenic	1 lab	843dccfcc9
6:129674506 LAMA2 C>T	6	129674506	129674506	C	T	LAMA2	c.4717+4C>T	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129674506C>T	(Likely) benign	1 lab	0550cbba8d
X:153225577 HCFC1 G>A	X	153225577	153225577	G	A	HCFC1				NC_000023.10:g.153225577G>A	VUS	1 lab	843fc15224
13:32915318 BRCA2 C>T	13	32915318	32915318	C	T	BRCA2	c.6826C>T	NM_000059.3	NP_000050.2:p.(Pro2276Ser)	NC_000013.10:g.32915318C>T	(Likely) benign	1 lab	8444249800
7:73097602 DNAJC30 T>C	7	73097602	73097602	T	C	DNAJC30	c.152A>G	NM_032317.3	NP_115693.2:p.(Tyr51Cys)	NC_000007.13:g.73097602T>C	(Likely) pathogenic	1 lab	844587b186
2:60687537 BCL11A C>A	2	60687537	60687537	C	A	BCL11A	c.*2G>T	NM_022893.4	NP_075044.2:p.?	NC_000002.11:g.60687537C>A	VUS	1 lab	0550d8abc9
5:112136948 APC T>C	5	112136948	112136948	T	C	APC	c.730-28T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112136948T>C	(Likely) benign	1 lab	84470c003e
2:135887630 RAB3GAP1 C>T	2	135887630	135887630	C	T	RAB3GAP1	c.1039C>T	NM_001172435.1	NP_001165906.1:p.(Arg347Ter)	NC_000002.11:g.135887630C>T	(Likely) pathogenic	1 lab	8447d74228
8:102656387 GRHL2 C>T	8	102656387	102656387	C	T	GRHL2	c.1546C>T	NM_024915.3	NP_079191.2:p.(Arg516Trp)	NC_000008.10:g.102656387C>T	VUS	1 lab	844c3bb530
2:227876914 COL4A4 C>CCGTCT	2	227876914	227876919	C	CCGTCT	COL4A4	c.4311_4315dup	NM_000092.4	NP_000083.3:p.(Gly1439GlufsTer115)	NC_000002.11:g.227876915_227876919dup	(Likely) pathogenic	1 lab	844c68b1e8
2:179644110 TTN A>T	2	179644110	179644110	A	T	TTN	c.3809T>A	NM_001267550.2	NP_001254479.2:p.(Leu1270His)	NC_000002.11:g.179644110A>T	VUS	1 lab	844e590991
5:112174742 APC G>T	5	112174742	112174742	G	T	APC	c.3451G>T	NM_000038.6	NP_000029.2:p.(Glu1151Ter)	NC_000005.9:g.112174742G>T	(Likely) pathogenic	1 lab	844e62c85c
15:25615817 UBE3A G>A	15	25615817	25615817	G	A	UBE3A	c.1504C>T	NM_130839.5	NP_570854.1:p.(Arg502Ter)	NC_000015.9:g.25615817G>A	(Likely) pathogenic	1 lab	84546292e5
11:64519874 PYGM C>T	11	64519874	64519874	C	T	PYGM	c.1620+1G>A	NM_005609.2	NP_005600.1:p.?	NC_000011.9:g.64519874C>T	(Likely) pathogenic	1 lab	845483fd11
5:149505134 PDGFRB G>A	5	149505134	149505134	G	A	PDGFRB	c.1681C>T	NM_002609.3	NP_002600.1:p.(Arg561Cys)	NC_000005.9:g.149505134G>A	(Likely) pathogenic	1 lab	845b05bcac
16:3786125 CREBBP T>G	16	3786125	3786125	T	G	CREBBP	c.4640A>C	NM_004380.2	NP_004371.2:p.(Asn1547Thr)	NC_000016.9:g.3786125T>G	VUS	1 lab	845b92f07e
14:92344300 FBLN5 A>G	14	92344300	92344300	A	G	FBLN5	c.990-274T>C	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92344300A>G	(Likely) benign	1 lab	0556ecdb4e
6:73900427 KCNQ5 G>A	6	73900427	73900427	G	A	KCNQ5	c.1709G>A	NM_019842.4	NP_062816.2:p.(Arg570His)	NC_000006.11:g.73900427G>A	VUS	1 lab	846319a3cc
1:197074207 ASPM G>A	1	197074207	197074207	G	A	ASPM	c.4174C>T	NM_018136.4	NP_060606.3:p.(Arg1392Ter)	NC_000001.10:g.197074207G>A	(Likely) pathogenic	1 lab	8468c7ab7b
3:38936197 SCN11A T>C	3	38936197	38936197	T	C	SCN11A	c.2662A>G	NM_001349253.2	NP_001336182.1:p.(Lys888Glu)	NC_000003.11:g.38936197T>C	(Likely) benign	1 lab	84692d9972
4:77660682 SHROOM3 T>C	4	77660682	77660682	T	C	SHROOM3	c.1356T>C	NM_020859.3	NP_065910.3:p.(Tyr452=)	NC_000004.11:g.77660682T>C	(Likely) benign	1 lab	846b4637e3
14:23884263 MYH7 C>T	14	23884263	23884263	C	T	MYH7	c.5500G>A	NM_000257.4	NP_000248.2:p.(Ala1834Thr)	NC_000014.8:g.23884263C>T	VUS	1 lab	055c407fba
16:89211778 ACSF3 G>C	16	89211778	89211778	G	C	ACSF3	c.1470G>C	NM_174917.5	NP_777577.2:p.(Glu490Asp)	NC_000016.9:g.89211778G>C	VUS	1 lab	846f88d5e8
3:38760159 SCN10A G>T	3	38760159	38760159	G	T	SCN10A	c.3666C>A	NM_006514.4	NP_006505.4:p.(Asp1222Glu)	NC_000003.11:g.38760159G>T	VUS	1 lab	84707e209a
6:152686021 SYNE1 A>G	6	152686021	152686021	A	G	SYNE1	c.10106T>C	NM_182961.3	NP_892006.3:p.(Met3369Thr)	NC_000006.11:g.152686021A>G	(Likely) benign	1 lab	8470b0d743
19:7623855 PNPLA6 C>T	19	7623855	7623855	C	T	PNPLA6	c.3403C>T	NM_006702.4	NP_006693.3:p.(Arg1135Trp)	NC_000019.9:g.7623855C>T	VUS	1 lab	84716456ec
5:112174638 APC G>A	5	112174638	112174638	G	A	APC	c.3347G>A	NM_000038.5	NP_000029.2:p.(Gly1116Asp)	NC_000005.9:g.112174638G>A	VUS	1 lab	8473903f4c
X:8538647 ANOS1 C>A	X	8538647	8538647	C	A	ANOS1	c.955G>T	NM_000216.2	NP_000207.2:p.(Glu319Ter)	NC_000023.10:g.8538647C>A	(Likely) pathogenic	1 lab	848f8167d6
9:98242797 PTCH1 GATAGTTT>G	9	98242797	98242806	GATAGTTT	G	PTCH1	c.813_819del	NM_000264.5	NP_000255.2:p.(Asn272LysfsTer9)	NC_000009.11:g.98242800_98242806del	(Likely) pathogenic	1 lab	84747efd4e
2:239990268 HDAC4 G>A	2	239990268	239990268	G	A	HDAC4	c.2771C>T	NM_006037.3	NP_006028.2:p.(Pro924Leu)	NC_000002.11:g.239990268G>A	VUS	1 lab	8475a314f8
10:8106072 GATA3 C>T	10	8106072	8106072	C	T	GATA3	c.895C>T	NM_001002295.2	NP_001002295.1:p.(Arg299Trp)	NC_000010.10:g.8106072C>T	(Likely) pathogenic	1 lab	84774bf413
3:45996761 FYCO1 G>A	3	45996761	45996761	G	A	FYCO1	c.3924C>T	NM_024513.4	NP_078789.2:p.(Leu1308=)	NC_000003.11:g.45996761G>A	(Likely) benign	1 lab	0562bf60a5
8:41591499 ANK1 G>A	8	41591499	41591499	G	A	ANK1	c.317C>T	NM_001142446.1	NP_001135918.1:p.(Thr106Met)	NC_000008.10:g.41591499G>A	(Likely) benign	1 lab	847aee9b4b
X:135104864 SLC9A6 G>A	X	135104864	135104864	G	A	SLC9A6				NC_000023.10:g.135104864G>A	(Likely) benign	1 lab	847d8d771c
2:44540996 SLC3A1 C>G	2	44540996	44540996	C	G	SLC3A1	c.1523C>G	NM_000341.4	NP_000332.2:p.(Pro508Arg)	NC_000002.11:g.44540996C>G	(Likely) pathogenic	1 lab	848007b539
2:152487664 NEB A>G	2	152487664	152487664	A	G	NEB	c.9611T>C	NM_001271208.2	NP_001258137.2:p.(Met3204Thr)	NC_000002.11:g.152487664A>G	VUS	1 lab	84800c7525
22:29083951 CHEK2 G>A	22	29083951	29083951	G	A	CHEK2	c.1566C>T	NM_007194.4	NP_009125.1:p.(Pro522=)	NC_000022.10:g.29083951G>A	(Likely) benign	1 lab	8481b8576a
11:2592694 KCNQ1 C>CCG	11	2592694	2592698	C	CCG	KCNQ1	c.683+64_683+65dup	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2592697_2592698dup	(Likely) benign	1 lab	8485eab0ed
19:11313113 DOCK6 T>C	19	11313113	11313113	T	C	DOCK6	c.5408A>G	NM_020812.3	NP_065863.2:p.(Lys1803Arg)	NC_000019.9:g.11313113T>C	VUS	1 lab	8488081103
X:46713105 RP2 C>G	X	46713105	46713105	C	G	RP2	c.297C>G	NM_006915.3	NP_008846.2:p.(Ser99Arg)	NC_000023.10:g.46713105C>G	VUS	1 lab	8491019990
19:50906026 POLD1 C>T	19	50906026	50906026	C	T	POLD1	c.970+28C>T	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50906026C>T	(Likely) benign	1 lab	849334e6b2
7:23207549 KLHL7 G>T	7	23207549	23207549	G	T	KLHL7	c.1272G>T	NM_001031710.3	NP_001026880.2:p.(Gly424=)	NC_000007.13:g.23207549G>T	VUS	1 lab	8493aedcbf
2:219527866 BCS1L T>C	2	219527866	219527866	T	C	BCS1L	c.1017T>C	NM_004328.5	NP_004319.1:p.(Pro339=)	NC_000002.11:g.219527866T>C	(Likely) benign	1 lab	05650342df
6:152776750 SYNE1 G>A	6	152776750	152776750	G	A	SYNE1	c.2728-25C>T	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152776750G>A	(Likely) benign	1 lab	05663eae9f
6:32006097 CYP21A2 A>G	6	32006097	32006097	A	G	CYP21A2				NC_000006.11:g.32006097A>G	VUS	1 lab	849b5edfc2
1:94564447 ABCA4 G>A	1	94564447	94564447	G	A	ABCA4	c.671C>T	NM_000350.2	NP_000341.2:p.(Thr224Met)	NC_000001.10:g.94564447G>A	VUS	1 lab	849e106672
13:32911632 BRCA2 T>C	13	32911632	32911632	T	C	BRCA2	c.3140T>C	NM_000059.3	NP_000050.2:p.(Ile1047Thr)	NC_000013.10:g.32911632T>C	(Likely) benign	1 lab	849f383df9
12:48393848 COL2A1 G>A	12	48393848	48393848	G	A	COL2A1				NC_000012.11:g.48393848G>A	VUS	1 lab	84a1f8e574
1:94482015 ABCA4 G>A	1	94482015	94482015	G	A	ABCA4	c.5197-605C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94482015G>A	(Likely) benign	1 lab	84a698e508
7:70255026 AUTS2 C>G	7	70255026	70255026	C	G	AUTS2	c.2824C>G	NM_015570.4	NP_056385.1:p.(Pro942Ala)	NC_000007.13:g.70255026C>G	VUS	1 lab	84a7cbdebc
17:11837236 DNAH9 A>C	17	11837236	11837236	A	C	DNAH9	c.12337A>C	NM_001372.4	NP_001363.2:p.(Met4113Leu)	NC_000017.10:g.11837236A>C	VUS	1 lab	056d8b68db
4:103488196 NFKB1 GA>G	4	103488196	103488202	GA	G	NFKB1	c.317del	NM_003998.4	NP_003989.2:p.(Asn106IlefsTer21)	NC_000004.11:g.103488202del	(Likely) pathogenic	1 lab	05740f442c
2:48033596 MSH6 C>A	2	48033596	48033596	C	A	MSH6	c.3807C>A	NM_000179.3	NP_000170.1:p.(Cys1269Ter)	NC_000002.11:g.48033596C>A	(Likely) pathogenic	1 lab	84b1c8c1c0
2:189866280 COL3A1 G>A	2	189866280	189866280	G	A	COL3A1	c.2356G>A	NM_000090.4	NP_000081.2:p.(Gly786Arg)	NC_000002.11:g.189866280G>A	(Likely) pathogenic	1 lab	84b2ac6190
12:75884206 GLIPR1 C>G	12	75884206	75884206	C	G	GLIPR1	c.441C>G	NM_006851.2	NP_006842.2:p.(Tyr147Ter)	NC_000012.11:g.75884206C>G	VUS	1 lab	84b31eccf0
19:47987291 KPTN C>A	19	47987291	47987291	C	A	KPTN	c.127G>T	NM_007059.3	NP_008990.2:p.(Ala43Ser)	NC_000019.9:g.47987291C>A	(Likely) benign	1 lab	84b329a5e3
3:100963610 IMPG2 G>C	3	100963610	100963610	G	C	IMPG2	c.1565C>G	NM_016247.4	NP_057331.2:p.(Ser522Ter)	NC_000003.11:g.100963610G>C	(Likely) pathogenic	1 lab	84b4b52d0b
X:41604817 CASK G>A	X	41604817	41604817	G	A	CASK	c.316C>T	NM_001367721.1	NP_001354650.1:p.(Arg106Ter)	NC_000023.10:g.41604817G>A	(Likely) pathogenic	1 lab	84b71da712
2:241712529 KIF1A A>C	2	241712529	241712529	A	C	KIF1A	c.1180+2T>G	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241712529A>C	(Likely) pathogenic	1 lab	84b98ae203
12:6127852 VWF T>G	12	6127852	6127852	T	G	VWF	c.4732A>C	NM_000552.3	NP_000543.2:p.(Thr1578Pro)	NC_000012.11:g.6127852T>G	VUS	1 lab	84b9a762bd
X:144906047 SLITRK2 A>G	X	144906047	144906047	A	G	SLITRK2	c.2104A>G	NM_032539.4	NP_115928.1:p.(Met702Val)	NC_000023.10:g.144906047A>G	VUS	1 lab	84b9b0d98f
3:189585695 TP63 G>A	3	189585695	189585695	G	A	TP63	c.956G>A	NM_003722.4	NP_003713.3:p.(Arg319His)	NC_000003.11:g.189585695G>A	(Likely) pathogenic	1 lab	84ba6509a5
X:148564458 IDS G>C	X	148564458	148564458	G	C	IDS	c.1472C>G	NM_000202.8	NP_000193.1:p.(Ser491Cys)	NC_000023.10:g.148564458G>C	VUS	1 lab	84bd5720fa
X:114864266 PLS3 G>A	X	114864266	114864266	G	A	PLS3	c.487G>A	NM_005032.6	NP_005023.2:p.(Gly163Arg)	NC_000023.10:g.114864266G>A	VUS	1 lab	84bdc0b0c1
9:130581901 ENG C>T	9	130581901	130581901	C	T	ENG	c.1311G>A	NM_000118.3	NP_000109.1:p.(Arg437=)	NC_000009.11:g.130581901C>T	(Likely) pathogenic	1 lab	0cc9a2e16c
7:91709085 AKAP9 A>G	7	91709085	91709085	A	G	AKAP9	c.7638A>G	NM_005751.4	NP_005742.4:p.(Ile2546Met)	NC_000007.13:g.91709085A>G	VUS	1 lab	84c0db24e7
1:43908169 SZT2 G>A	1	43908169	43908169	G	A	SZT2	c.7860G>A	NM_015284.4	NP_056099.3:p.(Ala2620=)	NC_000001.10:g.43908169G>A	(Likely) benign	1 lab	0ccc0d30d8
X:70356290 MED12 C>A	X	70356290	70356290	C	A	MED12				NC_000023.10:g.70356290C>A	(Likely) pathogenic	1 lab	84c513b447
11:118359365 KMT2A A>G	11	118359365	118359365	A	G	KMT2A	c.4369A>G	NM_001197104.2	NP_001184033.1:p.(Lys1457Glu)	NC_000011.9:g.118359365A>G	(Likely) benign	1 lab	0576decee8
12:6132018 VWF A>G	12	6132018	6132018	A	G	VWF	c.3426T>C	NM_000552.3	NP_000543.2:p.(Cys1142=)	NC_000012.11:g.6132018A>G	(Likely) benign	1 lab	84c8ccf22d
9:129377844 LMX1B C>T	9	129377844	129377844	C	T	LMX1B	c.322C>T	NM_001174146.1	NP_001167617.1:p.(Gln108Ter)	NC_000009.11:g.129377844C>T	(Likely) pathogenic	1 lab	84cb090c61
19:39217725 ACTN4 C>T	19	39217725	39217725	C	T	ACTN4				NC_000019.9:g.39217725C>T	(Likely) benign	1 lab	84cb6629d9
3:9986058 CRELD1 GCTT>G	3	9986058	9986066	GCTT	G	CRELD1	c.1258_1260del	NM_001031717.3	NP_001026887.1:p.(Ser420del)	NC_000003.11:g.9986064_9986066del	(Likely) benign	1 lab	84cd22dfe5
9:137704454 COL5A1 C>A	9	137704454	137704454	C	A	COL5A1				NC_000009.11:g.137704454C>A	(Likely) pathogenic	1 lab	84cde1a0a2
6:112522851 LAMA4 C>T	6	112522851	112522851	C	T	LAMA4	c.461G>A	NM_001105206.2	NP_001098676.2:p.(Arg154Gln)	NC_000006.11:g.112522851C>T	(Likely) benign	1 lab	84ce7cea4c
19:39061246 RYR1 G>C	19	39061246	39061246	G	C	RYR1	c.13660-1G>C	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39061246G>C	VUS	1 lab	84ceee6e82
4:155508788 FGA C>G	4	155508788	155508788	C	G	FGA	c.386G>C	NM_000508.3	NP_000499.1:p.(Arg129Pro)	NC_000004.11:g.155508788C>G	VUS	1 lab	84d0789d95
1:226075473 LEFTY1 C>G	1	226075473	226075473	C	G	LEFTY1	c.497+13G>C	NM_020997.4	NP_066277.1:p.?	NC_000001.10:g.226075473C>G	(Likely) benign	1 lab	0cccffe78a
4:6303981 WFS1 G>T	4	6303981	6303981	G	T	WFS1	c.2459G>T	NM_006005.3	NP_005996.2:p.(Gly820Val)	NC_000004.11:g.6303981G>T	(Likely) pathogenic	1 lab	84da85d24b
22:19951069 COMT C>G	22	19951069	19951069	C	G	COMT	c.290-20C>G	NM_000754.3	NP_000745.1:p.?	NC_000022.10:g.19951069C>G	(Likely) benign	1 lab	84dae3b4b9
5:135382149 TGFBI G>A	5	135382149	135382149	G	A	TGFBI	c.424G>A	NM_000358.3	NP_000349.1:p.(Ala142Thr)	NC_000005.9:g.135382149G>A	VUS	1 lab	84df26b3af
2:32368461 SPAST A>T	2	32368461	32368461	A	T	SPAST	c.1593A>T	NM_014946.4	NP_055761.2:p.(Gln531His)	NC_000002.11:g.32368461A>T	VUS	1 lab	057dc98dc2
15:93467594 CHD2 C>T	15	93467594	93467594	C	T	CHD2	c.106C>T	NM_001271.3	NP_001262.3:p.(Gln36Ter)	NC_000015.9:g.93467594C>T	(Likely) pathogenic	1 lab	84e0a8989d
11:108202591 ATM G>T	11	108202591	108202591	G	T	ATM	c.7630-15G>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202591G>T	(Likely) benign	1 lab	84e2959978
2:47233092 TTC7A C>T	2	47233092	47233092	C	T	TTC7A	c.1097C>T	NM_001288951.2	NP_001275880.1:p.(Pro366Leu)	NC_000002.11:g.47233092C>T	VUS	1 lab	057ed28dea
X:31645848 DMD C>T	X	31645848	31645848	C	T	DMD	c.8159G>A	NM_004006.2	NP_003997.1:p.(Arg2720His)	NC_000023.10:g.31645848C>T	(Likely) benign	1 lab	84e5aaa518
15:89860690 POLG C>T	15	89860690	89860690	C	T	POLG	c.3560G>A	NM_002693.3	NP_002684.1:p.(Arg1187Gln)	NC_000015.9:g.89860690C>T	VUS	1 lab	05859759d3
14:23885072 MYH7 G>A	14	23885072	23885072	G	A	MYH7	c.4954-31C>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23885072G>A	(Likely) benign	1 lab	84e8e14d58
5:92921043 NR2F1 G>A	5	92921043	92921043	G	A	NR2F1	c.314G>A	NM_005654.5	NP_005645.1:p.(Gly105Asp)	NC_000005.9:g.92921043G>A	(Likely) pathogenic	1 lab	84ea7cac3b
10:89725207 PTEN A>G	10	89725207	89725207	A	G	PTEN	c.1190A>G	NM_000314.4	NP_000305.3:p.(His397Arg)	NC_000010.10:g.89725207A>G	VUS	1 lab	84eb389779
11:824021 PNPLA2 C>T	11	824021	824021	C	T	PNPLA2	c.943C>T	NM_020376.3	NP_065109.1:p.(Pro315Ser)	NC_000011.9:g.824021C>T	(Likely) benign	1 lab	84ebbb5fa8
10:102505858 PAX2 G>T	10	102505858	102505858	G	T	PAX2	c.-160G>T	NM_003990.3	NP_003981.2:p.?	NC_000010.10:g.102505858G>T	(Likely) benign	1 lab	84ebdf7f20
1:3328899 PRDM16 A>G	1	3328899	3328899	A	G	PRDM16	c.2138A>G	NM_022114.3	NP_071397.3:p.(Glu713Gly)	NC_000001.10:g.3328899A>G	(Likely) benign	1 lab	84f5ac29e0
X:10165979 CLCN4 G>A	X	10165979	10165979	G	A	CLCN4	c.433G>A	NM_001830.3	NP_001821.2:p.(Gly145Ser)	NC_000023.10:g.10165979G>A	(Likely) benign	1 lab	84f6e23b6d
X:73751342 SLC16A2 A>G	X	73751342	73751342	A	G	SLC16A2				NC_000023.10:g.73751342A>G	VUS	1 lab	84f9669224
16:89348894 ANKRD11 G>C	16	89348894	89348894	G	C	ANKRD11	c.4056C>G	NM_001256182.2	NP_001243111.1:p.(His1352Gln)	NC_000016.9:g.89348894G>C	VUS	1 lab	058c7fd1c8
9:134398412 POMT1 C>A	9	134398412	134398412	C	A	POMT1	c.2163C>A	NM_007171.3	NP_009102.3:p.(Tyr721Ter)	NC_000009.11:g.134398412C>A	(Likely) pathogenic	1 lab	84fb37f0b8
17:29560026 NF1 G>A	17	29560026	29560026	G	A	NF1	c.3503G>A	NM_000267.3	NP_000258.1:p.(Gly1168Asp)	NC_000017.10:g.29560026G>A	VUS	1 lab	84fb430e1f
2:223161852 PAX3 G>A	2	223161852	223161852	G	A	PAX3	c.166C>T	NM_181459.4	NP_852124.1:p.(Arg56Cys)	NC_000002.11:g.223161852G>A	VUS	1 lab	84fdd04a51
12:80655799 OTOGL G>A	12	80655799	80655799	G	A	OTOGL	c.1913G>A	NM_173591.3	NP_775862.3:p.(Trp638Ter)	NC_000012.11:g.80655799G>A	(Likely) pathogenic	1 lab	850057df50
17:41201196 BRCA1 A>T	17	41201196	41201196	A	T	BRCA1	c.5348T>A	NM_007294.3	NP_009225.1:p.(Met1783Lys)	NC_000017.10:g.41201196A>T	(Likely) benign	1 lab	8501ba780b
11:67225124 CABP4 G>GT	11	67225124	67225125	G	GT	CABP4	c.623dup	NM_145200.3	NP_660201.1:p.(Arg209AlafsTer11)	NC_000011.9:g.67225125dup	(Likely) pathogenic	1 lab	8501f5fc35
18:19321716 MIB1 G>A	18	19321716	19321716	G	A	MIB1	c.172G>A	NM_020774.2	NP_065825.1:p.(Ala58Thr)	NC_000018.9:g.19321716G>A	(Likely) benign	1 lab	8502c17101
7:12258101 TMEM106B G>A	7	12258101	12258101	G	A	TMEM106B	c.235G>A	NM_018374.3	NP_060844.2:p.(Val79Met)	NC_000007.13:g.12258101G>A	VUS	1 lab	8502df5656
15:93524631 CHD2 AC>A	15	93524631	93524632	AC	A	CHD2	c.3011del	NM_001271.3	NP_001262.3:p.(Thr1004ArgfsTer32)	NC_000015.9:g.93524632del	(Likely) pathogenic	1 lab	854068df51
X:128692855 OCRL C>G	X	128692855	128692855	C	G	OCRL	c.599C>G	NM_000276.4	NP_000267.2:p.(Pro200Arg)	NC_000023.10:g.128692855C>G	VUS	1 lab	850704d59b
5:251542 SDHA C>T	5	251542	251542	C	T	SDHA	c.1753C>T	NM_004168.2	NP_004159.2:p.(Arg585Trp)	NC_000005.9:g.251542C>T	(Likely) pathogenic	1 lab	850986b59f
22:29115374 CHEK2 A>G	22	29115374	29115374	A	G	CHEK2	c.683+9T>C	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29115374A>G	(Likely) benign	1 lab	850cffd56e
17:10533613 MYH3 CCA>C	17	10533613	10533615	CCA	C	MYH3	c.5447_5448del	NM_002470.4	NP_002461.2:p.(Leu1816ArgfsTer10)	NC_000017.10:g.10533614_10533615del	(Likely) pathogenic	1 lab	850fe3b412
12:49579497 TUBA1A C>T	12	49579497	49579497	C	T	TUBA1A	c.652G>A	NM_006009.3	NP_006000.2:p.(Asp218Asn)	NC_000012.11:g.49579497C>T	(Likely) pathogenic	1 lab	851354b442
2:167304192 SCN7A C>G	2	167304192	167304192	C	G	SCN7A	c.1317G>C	NM_002976.4	NP_002967.2:p.(Lys439Asn)	NC_000002.11:g.167304192C>G	(Likely) benign	1 lab	8513607258
12:44166154 IRAK4 T>A	12	44166154	44166154	T	A	IRAK4	c.479T>A	NM_016123.3	NP_057207.2:p.(Val160Asp)	NC_000012.11:g.44166154T>A	(Likely) benign	1 lab	0cd5525a19
12:80735896 OTOGL G>A	12	80735896	80735896	G	A	OTOGL				NC_000012.11:g.80735896G>A	VUS	1 lab	865becb2ef
10:69934211 MYPN G>C	10	69934211	69934211	G	C	MYPN	c.2362G>C	NM_032578.3	NP_115967.2:p.(Gly788Arg)	NC_000010.10:g.69934211G>C	(Likely) benign	1 lab	85153af501
X:41428941 CASK C>T	X	41428941	41428941	C	T	CASK	c.1562G>A	NM_003688.3	NP_003679.2:p.(Gly521Glu)	NC_000023.10:g.41428941C>T	(Likely) pathogenic	1 lab	85171dd525
8:63985547 TTPA C>T	8	63985547	63985547	C	T	TTPA	c.305G>A	NM_000370.3	NP_000361.1:p.(Gly102Glu)	NC_000008.10:g.63985547C>T	VUS	1 lab	851c21d751
9:426895 DOCK8 G>A	9	426895	426895	G	A	DOCK8	c.4252G>A	NM_203447.4	NP_982272.2:p.(Glu1418Lys)	NC_000009.11:g.426895G>A	VUS	1 lab	0594b379d8
2:39278343 SOS1 A>C	2	39278343	39278343	A	C	SOS1	c.806T>G	NM_005633.3	NP_005624.2:p.(Met269Arg)	NC_000002.11:g.39278343A>C	(Likely) pathogenic	1 lab	851d893bc1
5:45396704 HCN1 T>C	5	45396704	45396704	T	C	HCN1	c.1120A>G	NM_021072.3	NP_066550.2:p.(Ile374Val)	NC_000005.9:g.45396704T>C	VUS	1 lab	85220ccb75
7:4826014 AP5Z1 C>T	7	4826014	4826014	C	T	AP5Z1	c.1266C>T	NM_014855.3	NP_055670.1:p.(Ser422=)	NC_000007.13:g.4826014C>T	(Likely) benign	1 lab	0cd6b083f6
X:31854905 DMD G>A	X	31854905	31854905	G	A	DMD	c.7130C>T	NM_004006.2	NP_003997.1:p.(Pro2377Leu)	NC_000023.10:g.31854905G>A	(Likely) benign	1 lab	8525e85abc
2:228167820 COL4A3 G>A	2	228167820	228167820	G	A	COL4A3	c.3949G>A	NM_000091.4	NP_000082.2:p.(Val1317Met)	NC_000002.11:g.228167820G>A	VUS	1 lab	85274c1999
10:121431928 BAG3 C>T	10	121431928	121431928	C	T	BAG3	c.669C>T	NM_004281.3	NP_004272.2:p.(Pro223=)	NC_000010.10:g.121431928C>T	(Likely) benign	1 lab	8527fa5ac6
9:127265579 NR5A1 G>C	9	127265579	127265579	G	C	NR5A1	c.96C>G	NM_004959.5	NP_004950.2:p.(Ser32Arg)	NC_000009.11:g.127265579G>C	(Likely) pathogenic	1 lab	852a728036
X:13732567 TRAPPC2 T>A	X	13732567	13732567	T	A	TRAPPC2	c.382A>T	NM_001011658.4	NP_001011658.1:p.(Arg128Ter)	NC_000023.10:g.13732567T>A	(Likely) pathogenic	1 lab	85318a85c8
19:616407 HCN2 C>T	19	616407	616407	C	T	HCN2	c.2603C>T	NM_001194.4	NP_001185.3:p.(Ser868Leu)	NC_000019.9:g.616407C>T	VUS	1 lab	97d6d9309c
6:33408690 SYNGAP1 C>T	6	33408690	33408690	C	T	SYNGAP1	c.1861C>T	NM_006772.2	NP_006763.2:p.(Arg621Ter)	NC_000006.11:g.33408690C>T	(Likely) pathogenic	1 lab	8534dc6648
5:10973660 CTNND2 C>T	5	10973660	10973660	C	T	CTNND2	c.3583G>A	NM_001332.4	NP_001323.1:p.(Gly1195Ser)	NC_000005.9:g.10973660C>T	VUS	1 lab	05964603c8
7:92760745 SAMD9L T>C	7	92760745	92760745	T	C	SAMD9L	c.4540A>G	NM_152703.5	NP_689916.2:p.(Lys1514Glu)	NC_000007.13:g.92760745T>C	(Likely) benign	1 lab	0cdb7248e7
5:112174571 APC G>T	5	112174571	112174571	G	T	APC	c.3280G>T	NM_000038.6	NP_000029.2:p.(Gly1094Ter)	NC_000005.9:g.112174571G>T	(Likely) pathogenic	1 lab	8539999a1d
3:52440393 BAP1 C>T	3	52440393	52440393	C	T	BAP1	c.660-1G>A	NM_004656.3	NP_004647.1:p.?	NC_000003.11:g.52440393C>T	(Likely) pathogenic	1 lab	853c98e7fb
5:90073729 ADGRV1 C>T	5	90073729	90073729	C	T	ADGRV1	c.12535C>T	NM_032119.4	NP_115495.3:p.(Arg4179Ter)	NC_000005.9:g.90073729C>T	(Likely) pathogenic	1 lab	853f8514c3
16:20359916 UMOD G>C	16	20359916	20359916	G	C	UMOD	c.707C>G	NM_003361.2	NP_003352.2:p.(Pro236Arg)	NC_000016.9:g.20359916G>C	(Likely) pathogenic	1 lab	85414de397
2:179453894 TTN A>G	2	179453894	179453894	A	G	TTN	c.62558T>C	NM_001267550.2	NP_001254479.2:p.(Phe20853Ser)	NC_000002.11:g.179453894A>G	VUS	1 lab	85440ffc86
16:2149923 PKD1 TGAG>T	16	2149923	2149929	TGAG	T	PKD1	c.9859_9861del	NM_001009944.3	NP_001009944.3:p.(Leu3287del)	NC_000016.9:g.2149927_2149929del	(Likely) pathogenic	1 lab	0ce2dd0d79
7:40118416 CDK13 C>T	7	40118416	40118416	C	T	CDK13	c.2995C>T	NM_003718.4	NP_003709.3:p.(Arg999Ter)	NC_000007.13:g.40118416C>T	(Likely) pathogenic	1 lab	854580933e
17:42992812 GFAP C>T	17	42992812	42992812	C	T	GFAP	c.43G>A	NM_002055.5	NP_002046.1:p.(Val15Ile)	NC_000017.10:g.42992812C>T	VUS	1 lab	14a8102bb2
18:32345917 DTNA C>CT	18	32345917	32345918	C	CT	DTNA	c.68-8_68-7insT	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32345917_32345918insT	(Likely) benign	1 lab	854990215d
3:46727909 ALS2CL C>A	3	46727909	46727909	C	A	ALS2CL	c.555G>T	NM_147129.3	NP_667340.2:p.(Leu185=)	NC_000003.11:g.46727909C>A	(Likely) benign	1 lab	854db6272f
13:111009894 COL4A2 G>A	13	111009894	111009894	G	A	COL4A2	c.175G>A	NM_001846.4	NP_001837.2:p.(Gly59Arg)	NC_000013.10:g.111009894G>A	VUS	1 lab	855165ba6d
11:36597180 RAG1 C>T	11	36597180	36597180	C	T	RAG1	c.2326C>T	NM_000448.2	NP_000439.1:p.(Arg776Trp)	NC_000011.9:g.36597180C>T	(Likely) pathogenic	1 lab	85532ae522
19:39052090 RYR1 C>T	19	39052090	39052090	C	T	RYR1	c.12620C>T	NM_000540.3	NP_000531.2:p.(Pro4207Leu)	NC_000019.9:g.39052090C>T	VUS	1 lab	059b511f57
1:171076935 FMO3 C>T	1	171076935	171076935	C	T	FMO3	c.441C>T	NM_001002294.3	NP_001002294.1:p.(Ser147=)	NC_000001.10:g.171076935C>T	(Likely) benign	1 lab	85566c3917
9:139399131 NOTCH1 A>C	9	139399131	139399131	A	C	NOTCH1	c.5012T>G	NM_017617.4	NP_060087.3:p.(Val1671Gly)	NC_000009.11:g.139399131A>C	VUS	1 lab	855ac63950
X:25022787 ARX T>G	X	25022787	25022787	T	G	ARX	c.1689A>C	NM_139058.2	NP_620689.1:p.(Ter563TyrextTer37)	NC_000023.10:g.25022787T>G	(Likely) pathogenic	1 lab	855dd40df0
12:6092372 VWF C>T	12	6092372	6092372	C	T	VWF	c.7025G>A	NM_000552.5	NP_000543.3:p.(Arg2342His)	NC_000012.11:g.6092372C>T	(Likely) benign	1 lab	85603aa809
2:216251697 FN1 G>A	2	216251697	216251697	G	A	FN1	c.4343-16C>T	NM_212482.1	NP_997647.1:p.?	NC_000002.11:g.216251697G>A	(Likely) benign	1 lab	8561ff419b
3:45877152 LZTFL1 G>A	3	45877152	45877152	G	A	LZTFL1	c.253C>T	NM_020347.3	NP_065080.1:p.(Arg85Ter)	NC_000003.11:g.45877152G>A	(Likely) pathogenic	1 lab	8564687671
4:114288823 ANK2 G>A	4	114288823	114288823	G	A	ANK2	c.11134G>A	NM_001148.6	NP_001139.3:p.(Val3712Ile)	NC_000004.11:g.114288823G>A	VUS	1 lab	8565f8bd45
2:179433447 TTN G>C	2	179433447	179433447	G	C	TTN	c.77412C>G	NM_001267550.2	NP_001254479.2:p.(Phe25804Leu)	NC_000002.11:g.179433447G>C	(Likely) benign	1 lab	8566f4bb61
17:17119680 FLCN G>A	17	17119680	17119680	G	A	FLCN	c.1300+14C>T	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17119680G>A	(Likely) benign	1 lab	059f9d4dc1
3:37089175 MLH1 G>T	3	37089175	37089175	G	T	MLH1	c.1896+1G>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37089175G>T	(Likely) pathogenic	1 lab	856764eda6
5:112175684 APC AGT>A	5	112175684	112175687	AGT	A	APC	c.4395_4396del	NM_000038.6	NP_000029.2:p.(Ser1465ArgfsTer3)	NC_000005.9:g.112175686_112175687del	(Likely) pathogenic	1 lab	856a767cce
22:17700284 ADA2 C>T	22	17700284	17700284	C	T	ADA2	c.-85G>A	NM_001282225.1	NP_001269154.1:p.?	NC_000022.10:g.17700284C>T	(Likely) benign	1 lab	856ec17805
4:1959751 NSD2 C>A	4	1959751	1959751	C	A	NSD2	c.2973C>A	NM_001042424.3	NP_001035889.1:p.(Tyr991Ter)	NC_000004.11:g.1959751C>A	(Likely) pathogenic	1 lab	85734c4bb6
11:119215461 MFRP C>T	11	119215461	119215461	C	T	MFRP	c.779G>A	NM_031433.4	NP_113621.1:p.(Cys260Tyr)	NC_000011.9:g.119215461C>T	VUS	1 lab	85774b75d6
6:6145726 F13A1 A>G	6	6145726	6145726	A	G	F13A1	c.*126T>C	NM_000129.3	NP_000120.2:p.?	NC_000006.11:g.6145726A>G	(Likely) benign	1 lab	857aab7c28
2:73680057 MISSING C>CCAA	2	73680057	73680062	C	CCAA	MISSING				NC_000002.11:g.73680060_73680062dup	(Likely) benign	1 lab	857b8ae177
5:240567 SDHA G>A	5	240567	240567	G	A	SDHA	c.1527G>A	NM_004168.2	NP_004159.2:p.(Ser509=)	NC_000005.9:g.240567G>A	(Likely) benign	1 lab	857d294ce1
12:111350904 MYL2 T>C	12	111350904	111350904	T	C	MYL2	c.398A>G	NM_000432.3	NP_000423.2:p.(Glu133Gly)	NC_000012.11:g.111350904T>C	VUS	1 lab	8586eb9cbc
2:48025841 MSH6 G>A	2	48025841	48025841	G	A	MSH6	c.719G>A	NM_000179.2	NP_000170.1:p.(Arg240Gln)	NC_000002.11:g.48025841G>A	(Likely) benign	1 lab	858992c1c7
15:73659949 HCN4 C>A	15	73659949	73659949	C	A	HCN4	c.663G>T	NM_005477.3	NP_005468.1:p.(Met221Ile)	NC_000015.9:g.73659949C>A	VUS	1 lab	858ecf53ab
19:7704746 STXBP2 ATG>A	19	7704746	7704755	ATG	A	STXBP2	c.246+61_246+62del	NM_006949.4	NP_008880.2:p.?	NC_000019.9:g.7704754_7704755del	(Likely) benign	1 lab	0ce68056eb
7:35288213 TBX20 T>C	7	35288213	35288213	T	C	TBX20	c.545+76A>G	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35288213T>C	(Likely) benign	1 lab	8591af22d4
1:3342296 PRDM16 G>A	1	3342296	3342296	G	A	PRDM16	c.3091G>A	NM_022114.3	NP_071397.3:p.(Glu1031Lys)	NC_000001.10:g.3342296G>A	VUS	1 lab	8594455c27
22:38511611 PLA2G6 C>A	22	38511611	38511611	C	A	PLA2G6	c.1957G>T	NM_003560.4	NP_003551.2:p.(Gly653Cys)	NC_000022.10:g.38511611C>A	(Likely) pathogenic	1 lab	8597f04c95
13:39452800 FREM2 C>T	13	39452800	39452800	C	T	FREM2	c.8860-168C>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39452800C>T	(Likely) benign	1 lab	0ce78a523d
X:53562346 HUWE1 T>C	X	53562346	53562346	T	C	HUWE1	c.12648A>G	NM_031407.5	NP_113584.3:p.(Thr4216=)	NC_000023.10:g.53562346T>C	(Likely) pathogenic	1 lab	859e3c701a
1:216372964 USH2A C>T	1	216372964	216372964	C	T	USH2A	c.3811+5G>A	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.216372964C>T	VUS	1 lab	85a2bae003
1:207642060 CR2 G>T	1	207642060	207642060	G	T	CR2	c.634G>T	NM_001006658.2	NP_001006659.1:p.(Glu212Ter)	NC_000001.10:g.207642060G>T	(Likely) pathogenic	1 lab	85a30f2bd8
1:147092686 BCL9 C>G	1	147092686	147092686	C	G	BCL9	c.2725C>G	NM_004326.4	NP_004317.2:p.(Pro909Ala)	NC_000001.10:g.147092686C>G	VUS	1 lab	05a785006c
X:153457219 OPN1MW G>A	X	153457219	153457219	G	A	OPN1MW	c.619G>A	NM_000513.2	NP_000504.1:p.(Val207Met)	NC_000023.10:g.153457219G>A	VUS	1 lab	85a6a435ff
1:7811343 CAMTA1 C>T	1	7811343	7811343	C	T	CAMTA1	c.4774C>T	NM_015215.4	NP_056030.1:p.(Gln1592Ter)	NC_000001.10:g.7811343C>T	(Likely) pathogenic	1 lab	85aa30b4d2
1:103354304 COL11A1 C>A	1	103354304	103354304	C	A	COL11A1	c.4529G>T	NM_001854.3	NP_001845.3:p.(Gly1510Val)	NC_000001.10:g.103354304C>A	(Likely) pathogenic	1 lab	85aaddc40c
20:61450608 COL9A3 C>T	20	61450608	61450608	C	T	COL9A3	c.218C>T	NM_001853.3	NP_001844.3:p.(Pro73Leu)	NC_000020.10:g.61450608C>T	VUS	1 lab	85ace687cf
X:36322007 CFAP47 A>G	X	36322007	36322007	A	G	CFAP47	c.8014A>G	NM_001304548.2	NP_001291477.1:p.(Thr2672Ala)	NC_000023.10:g.36322007A>G	VUS	1 lab	85ae05920a
2:48030615 MSH6 C>A	2	48030615	48030615	C	A	MSH6	c.3229C>A	NM_000179.2	NP_000170.1:p.(Pro1077Thr)	NC_000002.11:g.48030615C>A	VUS	1 lab	85ae760b82
4:187206919 F11 G>A	4	187206919	187206919	G	A	F11	c.1432G>A	NM_000128.3	NP_000119.1:p.(Gly478Arg)	NC_000004.11:g.187206919G>A	(Likely) pathogenic	1 lab	85b4a1e123
21:47406611 COL6A1 C>CA	21	47406611	47406612	C	CA	COL6A1	c.588+12_588+13insA	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47406611_47406612insA	(Likely) benign	1 lab	85b57bfad8
2:179449104 TTN A>G	2	179449104	179449104	A	G	TTN	c.65174T>C	NM_001267550.2	NP_001254479.2:p.(Val21725Ala)	NC_000002.11:g.179449104A>G	(Likely) benign	1 lab	85b8a89916
2:121732628 GLI2 C>T	2	121732628	121732628	C	T	GLI2	c.1311C>T	NM_005270.4	NP_005261.2:p.(Thr437=)	NC_000002.11:g.121732628C>T	(Likely) benign	1 lab	85bca0e5f3
7:151879030 KMT2C G>T	7	151879030	151879030	G	T	KMT2C	c.5915C>A	NM_170606.3	NP_733751.2:p.(Pro1972His)	NC_000007.13:g.151879030G>T	VUS	1 lab	05b1a3592d
4:77677786 SHROOM3 C>T	4	77677786	77677786	C	T	SHROOM3	c.4894C>T	NM_020859.3	NP_065910.3:p.(Pro1632Ser)	NC_000004.11:g.77677786C>T	(Likely) benign	1 lab	85c2b89127
14:51204996 NIN C>T	14	51204996	51204996	C	T	NIN	c.5637G>A	NM_020921.4	NP_065972.4:p.(Gln1879=)	NC_000014.8:g.51204996C>T	(Likely) benign	1 lab	05b9b4d81b
14:23856867 MYH6 G>T	14	23856867	23856867	G	T	MYH6	c.4526-5C>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23856867G>T	(Likely) benign	1 lab	85c3e278b6
X:49061669 CACNA1F G>A	X	49061669	49061669	G	A	CACNA1F	c.5829C>T	NM_001256789.3	NP_001243718.1:p.(Asp1943=)	NC_000023.10:g.49061669G>A	(Likely) benign	1 lab	85c65023ff
16:21698950 OTOA G>A	16	21698950	21698950	G	A	OTOA	c.616G>A	NM_144672.3	NP_653273.3:p.(Glu206Lys)	NC_000016.9:g.21698950G>A	VUS	1 lab	85c76b336f
X:73964202 NEXMIF G>T	X	73964202	73964202	G	T	NEXMIF	c.190C>A	NM_001008537.3	NP_001008537.1:p.(Leu64Ile)	NC_000023.10:g.73964202G>T	(Likely) benign	1 lab	85c9b8e0a9
6:76660757 IMPG1 G>T	6	76660757	76660757	G	T	IMPG1	c.1346C>A	NM_001563.3	NP_001554.2:p.(Pro449His)	NC_000006.11:g.76660757G>T	VUS	1 lab	85cb92b13f
1:115282342 CSDE1 T>C	1	115282342	115282342	T	C	CSDE1	c.308A>G	NM_001130523.3	NP_001123995.1:p.(Asn103Ser)	NC_000001.10:g.115282342T>C	VUS	1 lab	05ba7dd9dd
17:56774184 RAD51C C>T	17	56774184	56774184	C	T	RAD51C	c.535C>T	NM_058216.2	NP_478123.1:p.(His179Tyr)	NC_000017.10:g.56774184C>T	VUS	1 lab	85cefd0f38
16:57937773 CNGB1 C>T	16	57937773	57937773	C	T	CNGB1	c.2747G>A	NM_001297.4	NP_001288.3:p.(Arg916His)	NC_000016.9:g.57937773C>T	VUS	1 lab	85d1c8f557
4:39507325 UGDH C>T	4	39507325	39507325	C	T	UGDH	c.950G>A	NM_003359.4	NP_003350.1:p.(Arg317Gln)	NC_000004.11:g.39507325C>T	VUS	1 lab	85d9e1406a
10:14965033 DCLRE1C G>A	10	14965033	14965033	G	A	DCLRE1C	c.648C>T	NM_001289079.2	NP_001276008.1:p.(Asn216=)	NC_000010.10:g.14965033G>A	(Likely) benign	1 lab	0ce92077df
15:85188839 WDR73 C>T	15	85188839	85188839	C	T	WDR73	c.746G>A	NM_032856.3	NP_116245.2:p.(Arg249His)	NC_000015.9:g.85188839C>T	(Likely) benign	1 lab	85db7fbbea
13:32971165 BRCA2 C>G	13	32971165	32971165	C	G	BRCA2	c.9632C>G	NM_000059.3	NP_000050.2:p.(Thr3211Arg)	NC_000013.10:g.32971165C>G	(Likely) benign	1 lab	85dc7c3d1c
6:35471585 TULP1 C>T	6	35471585	35471585	C	T	TULP1	c.1153G>A	NM_003322.6	NP_003313.3:p.(Gly385Arg)	NC_000006.11:g.35471585C>T	(Likely) pathogenic	1 lab	85dc93db75
19:4110537 MAP2K2 G>A	19	4110537	4110537	G	A	MAP2K2	c.420C>T	NM_030662.3	NP_109587.1:p.(Asp140=)	NC_000019.9:g.4110537G>A	(Likely) benign	1 lab	85fe4497a6
2:179441163 TTN A>C	2	179441163	179441163	A	C	TTN	c.69716-20T>G	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179441163A>C	(Likely) benign	1 lab	85e25e2ae3
4:149073677 NR3C2 G>A	4	149073677	149073677	G	A	NR3C2	c.2453C>T	NM_000901.4	NP_000892.2:p.(Ser818Leu)	NC_000004.11:g.149073677G>A	(Likely) pathogenic	1 lab	85e4940bce
20:42788883 JPH2 A>G	20	42788883	42788883	A	G	JPH2	c.544T>C	NM_020433.4	NP_065166.2:p.(Ser182Pro)	NC_000020.10:g.42788883A>G	VUS	1 lab	85e5019c7c
2:179403818 TTN G>A	2	179403818	179403818	G	A	TTN	c.98844C>T	NM_001267550.2	NP_001254479.2:p.(Asn32948=)	NC_000002.11:g.179403818G>A	(Likely) benign	1 lab	85e50f89a3
2:179644021 TTN A>G	2	179644021	179644021	A	G	TTN	c.3898T>C	NM_001267550.2	NP_001254479.2:p.(Tyr1300His)	NC_000002.11:g.179644021A>G	VUS	1 lab	85e8277f7b
14:30396718 PRKD1 T>A	14	30396718	30396718	T	A	PRKD1	c.1A>T	NM_001330069.1	NP_001316998.1:p.(Met1?)	NC_000014.8:g.30396718T>A	(Likely) pathogenic	1 lab	85ea3a2381
13:32914458 BRCA2 CA>C	13	32914458	32914459	CA	C	BRCA2	c.5967del	NM_000059.4	NP_000050.3:p.(Asp1990MetfsTer14)	NC_000013.10:g.32914459del	(Likely) pathogenic	1 lab	05bd3adf91
2:227919380 COL4A4 G>A	2	227919380	227919380	G	A	COL4A4	c.2790C>T	NM_000092.4	NP_000083.3:p.(Gly930=)	NC_000002.11:g.227919380G>A	(Likely) benign	1 lab	0ceabb7020
4:114278986 ANK2 T>G	4	114278986	114278986	T	G	ANK2	c.9212T>G	NM_001148.5	NP_001139.3:p.(Val3071Gly)	NC_000004.11:g.114278986T>G	VUS	1 lab	85f1eaaa5b
2:166221853 SCN2A A>C	2	166221853	166221853	A	C	SCN2A	c.3520+80A>C	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166221853A>C	(Likely) benign	1 lab	0cecc8ff38
15:23890068 MAGEL2 C>CG	15	23890068	23890074	C	CG	MAGEL2	c.2821dup	NM_019066.4	NP_061939.3:p.(Arg941ProfsTer10)	NC_000015.9:g.23890074dup	(Likely) pathogenic	1 lab	85f9eadd0a
6:51524403 PKHD1 G>A	6	51524403	51524403	G	A	PKHD1	c.10521C>T	NM_138694.3	NP_619639.3:p.(His3507=)	NC_000006.11:g.51524403G>A	(Likely) benign	1 lab	85fb3c1cad
1:43898013 SZT2 C>T	1	43898013	43898013	C	T	SZT2	c.5174C>T	NM_015284.4	NP_056099.3:p.(Ala1725Val)	NC_000001.10:g.43898013C>T	(Likely) benign	1 lab	0cedf001b4
1:215822068 USH2A A>C	1	215822068	215822068	A	C	USH2A	c.14384T>G	NM_206933.4	NP_996816.3:p.(Leu4795Arg)	NC_000001.10:g.215822068A>C	(Likely) pathogenic	1 lab	8600fef73b
10:69909786 MYPN C>T	10	69909786	69909786	C	T	MYPN	c.1246-11C>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69909786C>T	(Likely) benign	1 lab	860262067c
16:23646794 PALB2 G>T	16	23646794	23646794	G	T	PALB2	c.1073C>A	NM_024675.3	NP_078951.2:p.(Pro358His)	NC_000016.9:g.23646794G>T	(Likely) benign	1 lab	86034987c1
4:114264280 ANK2 A>G	4	114264280	114264280	A	G	ANK2	c.4230A>G	NM_001148.4	NP_001139.3:p.(Arg1410=)	NC_000004.11:g.114264280A>G	(Likely) benign	1 lab	860399d05e
1:43424429 SLC2A1 C>T	1	43424429	43424429	C	T	SLC2A1	c.-107G>A	NM_006516.2	NP_006507.2:p.?	NC_000001.10:g.43424429C>T	(Likely) pathogenic	1 lab	8604db39fc
X:119760954 C1GALT1C1 G>C	X	119760954	119760954	G	C	C1GALT1C1	c.68C>G	NM_152692.5	NP_689905.1:p.(Thr23Ser)	NC_000023.10:g.119760954G>C	VUS	1 lab	05bf963515
14:23857022 MYH6 G>T	14	23857022	23857022	G	T	MYH6	c.4470C>A	NM_002471.3	NP_002462.2:p.(Tyr1490Ter)	NC_000014.8:g.23857022G>T	VUS	1 lab	860a01a803
22:36688126 MYH9 C>T	22	36688126	36688126	C	T	MYH9	c.4250G>A	NM_002473.5	NP_002464.1:p.(Arg1417Gln)	NC_000022.10:g.36688126C>T	VUS	1 lab	860e6fb40a
14:92353600 FBLN5 C>T	14	92353600	92353600	C	T	FBLN5	c.676G>A	NM_006329.3	NP_006320.2:p.(Gly226Ser)	NC_000014.8:g.92353600C>T	VUS	1 lab	860e7754ba
16:31500349 SLC5A2 G>C	16	31500349	31500349	G	C	SLC5A2	c.1429G>C	NM_003041.3	NP_003032.1:p.(Val477Leu)	NC_000016.9:g.31500349G>C	VUS	1 lab	86132d77a5
3:46899538 MYL3 G>A	3	46899538	46899538	G	A	MYL3	c.*67C>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899538G>A	VUS	1 lab	8852c24446
17:41215389 BRCA1 C>A	17	41215389	41215389	C	A	BRCA1	c.5154G>T	NM_007294.4	NP_009225.1:p.(Trp1718Cys)	NC_000017.10:g.41215389C>A	(Likely) pathogenic	1 lab	86152d05c5
2:227967475 COL4A4 TCACTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATC>T	2	227967475	227967523	TCACTGATGTTAACAGCAAATGATGCTTACCCGAGGCCCTGGAAATC	T	COL4A4	c.914_930+29del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227967478_227967523del	(Likely) pathogenic	1 lab	8616f35799
5:112151291 APC G>T	5	112151291	112151291	G	T	APC	c.933+1G>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112151291G>T	(Likely) pathogenic	1 lab	8617e9c799
12:103240630 PAH C>A	12	103240630	103240630	C	A	PAH	c.969+43G>T	NM_000277.1	NP_000268.1:p.?	NC_000012.11:g.103240630C>A	(Likely) benign	1 lab	8617eafecf
1:237862292 RYR2 G>C	1	237862292	237862292	G	C	RYR2	c.9095G>C	NM_001035.3	NP_001026.2:p.(Cys3032Ser)	NC_000001.10:g.237862292G>C	VUS	1 lab	0cf4b13600
12:6128325 VWF G>A	12	6128325	6128325	G	A	VWF	c.4259C>T	NM_000552.3	NP_000543.2:p.(Ala1420Val)	NC_000012.11:g.6128325G>A	(Likely) benign	1 lab	8622168ec1
10:89685275 PTEN T>C	10	89685275	89685275	T	C	PTEN	c.170T>C	NM_000314.6	NP_000305.3:p.(Leu57Ser)	NC_000010.10:g.89685275T>C	(Likely) pathogenic	1 lab	8622c6acb4
1:113460067 SLC16A1 T>C	1	113460067	113460067	T	C	SLC16A1	c.961A>G	NM_003051.4	NP_003042.3:p.(Asn321Asp)	NC_000001.10:g.113460067T>C	VUS	1 lab	862542a5f7
17:17699603 RAI1 C>T	17	17699603	17699603	C	T	RAI1	c.3341C>T	NM_030665.3	NP_109590.3:p.(Ala1114Val)	NC_000017.10:g.17699603C>T	VUS	1 lab	8625766196
12:80816877 MISSING T>C	12	80816877	80816877	T	C	MISSING				NC_000012.11:g.80816877T>C	(Likely) benign	1 lab	86276e269f
2:26424010 HADHA T>G	2	26424010	26424010	T	G	HADHA	c.1392+8A>C	NM_000182.4	NP_000173.2:p.?	NC_000002.11:g.26424010T>G	(Likely) benign	1 lab	8628544378
14:102494154 DYNC1H1 C>T	14	102494154	102494154	C	T	DYNC1H1	c.9247C>T	NM_001376.5	NP_001367.2:p.(Pro3083Ser)	NC_000014.8:g.102494154C>T	(Likely) pathogenic	1 lab	8628e49024
9:34648453 GALT G>T	9	34648453	34648453	G	T	GALT	c.687G>T	NM_000155.4	NP_000146.2:p.(Lys229Asn)	NC_000009.11:g.34648453G>T	(Likely) pathogenic	1 lab	862c7f94ea
12:6128446 VWF T>C	12	6128446	6128446	T	C	VWF	c.4138A>G	NM_000552.3	NP_000543.2:p.(Ile1380Val)	NC_000012.11:g.6128446T>C	(Likely) benign	1 lab	862cdf20fc
2:179407048 TTN G>A	2	179407048	179407048	G	A	TTN	c.97435C>T	NM_001267550.2	NP_001254479.2:p.(Arg32479Cys)	NC_000002.11:g.179407048G>A	VUS	1 lab	862e8ead0d
1:160163620 CASQ1 G>T	1	160163620	160163620	G	T	CASQ1	c.448G>T	NM_001231.5	NP_001222.3:p.(Val150Leu)	NC_000001.10:g.160163620G>T	VUS	1 lab	05c48b4aef
17:8192173 RANGRF A>G	17	8192173	8192173	A	G	RANGRF	c.67A>G	NM_016492.4	NP_057576.2:p.(Ile23Val)	NC_000017.10:g.8192173A>G	(Likely) benign	1 lab	8636e04e23
11:108235838 ATM G>C	11	108235838	108235838	G	C	ATM	c.8880G>C	NM_000051.4	NP_000042.3:p.(Trp2960Cys)	NC_000011.9:g.108235838G>C	VUS	1 lab	86382769e8
20:31019384 ASXL1 A>G	20	31019384	31019384	A	G	ASXL1	c.883-2A>G	NM_015338.5	NP_056153.2:p.?	NC_000020.10:g.31019384A>G	VUS	1 lab	863d4b2162
7:128477712 FLNC C>T	7	128477712	128477712	C	T	FLNC	c.872C>T	NM_001458.4	NP_001449.3:p.(Thr291Ile)	NC_000007.13:g.128477712C>T	(Likely) benign	1 lab	86419a330d
1:61824947 NFIA G>C	1	61824947	61824947	G	C	NFIA	c.946+1G>C	NM_005595.5	NP_005586.1:p.?	NC_000001.10:g.61824947G>C	(Likely) pathogenic	1 lab	86458cbe23
8:10465847 RP1L1 T>G	8	10465847	10465847	T	G	RP1L1	c.5761A>C	NM_178857.5	NP_849188.4:p.(Ser1921Arg)	NC_000008.10:g.10465847T>G	(Likely) benign	1 lab	864889a8c8
17:72916743 USH1G ATG>A	17	72916743	72916746	ATG	A	USH1G	c.186_187del	NM_173477.4	NP_775748.2:p.(Ile63LeufsTer71)	NC_000017.10:g.72916745_72916746del	(Likely) pathogenic	1 lab	86498e2837
12:52163702 SCN8A A>G	12	52163702	52163702	A	G	SCN8A	c.3423A>G	NM_014191.3	NP_055006.1:p.(Pro1141=)	NC_000012.11:g.52163702A>G	(Likely) benign	1 lab	864a957d83
3:37042540 MLH1 G>T	3	37042540	37042540	G	T	MLH1	c.302G>T	NM_000249.4	NP_000240.1:p.(Gly101Val)	NC_000003.11:g.37042540G>T	VUS	1 lab	864aa5ef17
2:228172614 COL4A3 C>T	2	228172614	228172614	C	T	COL4A3	c.4441C>T	NM_000091.4	NP_000082.2:p.(Arg1481Ter)	NC_000002.11:g.228172614C>T	(Likely) pathogenic	1 lab	864b3a705b
1:152286107 FLG C>T	1	152286107	152286107	C	T	FLG	c.1255G>A	NM_002016.1	NP_002007.1:p.(Gly419Ser)	NC_000001.10:g.152286107C>T	(Likely) benign	1 lab	864dad9213
1:228566079 OBSCN G>A	1	228566079	228566079	G	A	OBSCN	c.26552G>A	NM_001271223.2	NP_001258152.2:p.(Gly8851Asp)	NC_000001.10:g.228566079G>A	(Likely) benign	1 lab	864ddfd9e2
2:179597777 TTN G>A	2	179597777	179597777	G	A	TTN	c.16126C>T	NM_001267550.2	NP_001254479.2:p.(Leu5376=)	NC_000002.11:g.179597777G>A	(Likely) benign	1 lab	05c4a02b8c
X:107924186 COL4A5 G>A	X	107924186	107924186	G	A	COL4A5	c.4087G>A	NM_033380.2	NP_203699.1:p.(Gly1363Ser)	NC_000023.10:g.107924186G>A	(Likely) pathogenic	1 lab	864f68d313
11:108196074 ATM A>T	11	108196074	108196074	A	T	ATM	c.6610A>T	NM_000051.4	NP_000042.3:p.(Lys2204Ter)	NC_000011.9:g.108196074A>T	(Likely) pathogenic	1 lab	05d0969061
8:30702944 TEX15 G>C	8	30702944	30702944	G	C	TEX15	c.4739C>G	NM_001350162.2	NP_001337091.1:p.(Ser1580Cys)	NC_000008.10:g.30702944G>C	(Likely) benign	1 lab	05d1dbc6c1
X:153583028 FLNA G>A	X	153583028	153583028	G	A	FLNA	c.5245C>T	NM_001456.3	NP_001447.2:p.(Leu1749=)	NC_000023.10:g.153583028G>A	VUS	1 lab	865253a96d
X:20183151 RPS6KA3 T>A	X	20183151	20183151	T	A	RPS6KA3	c.1630A>T	NM_004586.2	NP_004577.1:p.(Asn544Tyr)	NC_000023.10:g.20183151T>A	(Likely) pathogenic	1 lab	86528c7709
1:120459007 NOTCH2 G>A	1	120459007	120459007	G	A	NOTCH2	c.6338C>T	NM_024408.3	NP_077719.2:p.(Pro2113Leu)	NC_000001.10:g.120459007G>A	VUS	1 lab	865ca1b180
2:179593338 TTN C>T	2	179593338	179593338	C	T	TTN	c.19315G>A	NM_001267550.2	NP_001254479.2:p.(Val6439Met)	NC_000002.11:g.179593338C>T	VUS	1 lab	865f2383f5
4:15589551 CC2D2A AG>A	4	15589551	15589553	AG	A	CC2D2A				NC_000004.11:g.15589553del	(Likely) pathogenic	1 lab	86673ddf27
12:52056870 SCN8A C>T	12	52056870	52056870	C	T	SCN8A	c.269C>T	NM_014191.4	NP_055006.1:p.(Thr90Met)	NC_000012.11:g.52056870C>T	VUS	1 lab	05d5caa112
12:9001509 A2ML1 G>A	12	9001509	9001509	G	A	A2ML1				NC_000012.11:g.9001509G>A	(Likely) benign	1 lab	866ed2a1e9
20:60639519 TAF4 G>A	20	60639519	60639519	G	A	TAF4	c.1348C>T	NM_003185.4	NP_003176.2:p.(Gln450Ter)	NC_000020.10:g.60639519G>A	(Likely) pathogenic	1 lab	8671df393c
5:14746030 ANKH C>CA	5	14746030	14746031	C	CA	ANKH	c.863dup	NM_054027.6	NP_473368.1:p.(Met288IlefsTer20)	NC_000005.9:g.14746031dup	(Likely) benign	1 lab	867279cca9
16:139752 NPRL3 C>T	16	139752	139752	C	T	NPRL3	c.1235G>A	NM_001243249.2	NP_001230178.1:p.(Arg412His)	NC_000016.9:g.139752C>T	VUS	1 lab	05d7f796a0
1:247582326 NLRP3 C>T	1	247582326	247582326	C	T	NLRP3	c.224C>T	NM_001243133.2	NP_001230062.1:p.(Ala75Val)	NC_000001.10:g.247582326C>T	(Likely) benign	1 lab	0cf9949748
14:23872565 MYH6 T>C	14	23872565	23872565	T	C	MYH6	c.890A>G	NM_002471.3	NP_002462.2:p.(Glu297Gly)	NC_000014.8:g.23872565T>C	VUS	1 lab	867c8e0102
18:25572767 CDH2 A>G	18	25572767	25572767	A	G	CDH2	c.1196T>C	NM_001792.5	NP_001783.2:p.(Ile399Thr)	NC_000018.9:g.25572767A>G	VUS	1 lab	0718d4b5cb
14:95562881 DICER1 C>T	14	95562881	95562881	C	T	DICER1	c.4376G>A	NM_177438.3	NP_803187.1:p.(Gly1459Glu)	NC_000014.8:g.95562881C>T	VUS	1 lab	867efd699b
5:125928355 ALDH7A1 C>T	5	125928355	125928355	C	T	ALDH7A1	c.312+1G>A	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125928355C>T	VUS	1 lab	0cfb2acc5b
10:89473069 PAPSS2 T>TAAAAAA	10	89473069	89473091	T	TAAAAAA	PAPSS2	c.381+19_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473086_89473091dup	(Likely) benign	1 lab	0baeb6764f
4:149356859 NR3C2 G>T	4	149356859	149356859	G	T	NR3C2	c.1154C>A	NM_000901.4	NP_000892.2:p.(Ser385Ter)	NC_000004.11:g.149356859G>T	(Likely) pathogenic	1 lab	868325540c
10:89725147 PTEN A>T	10	89725147	89725147	A	T	PTEN	c.1130A>T	NM_000314.8	NP_000305.3:p.(Tyr377Phe)	NC_000010.10:g.89725147A>T	VUS	1 lab	8683726772
4:52894285 SGCB G>A	4	52894285	52894285	G	A	SGCB	c.622-20C>T	NM_000232.4	NP_000223.1:p.?	NC_000004.11:g.52894285G>A	(Likely) benign	1 lab	86862aab07
X:138679712 MCF2 T>A	X	138679712	138679712	T	A	MCF2	c.2190A>T	NM_001171876.2	NP_001165347.1:p.(Gly730=)	NC_000023.10:g.138679712T>A	(Likely) benign	1 lab	05dadc3ba0
12:80729851 OTOGL G>T	12	80729851	80729851	G	T	OTOGL	c.4504G>T	NM_173591.3	NP_775862.3:p.(Asp1502Tyr)	NC_000012.11:g.80729851G>T	VUS	1 lab	86892010b0
5:45303761 HCN1 C>A	5	45303761	45303761	C	A	HCN1	c.1558G>T	NM_021072.4	NP_066550.2:p.(Ala520Ser)	NC_000005.9:g.45303761C>A	VUS	1 lab	868abaf040
4:1806012 FGFR3 TG>T	4	1806012	1806023	TG	T	FGFR3	c.1076-34del	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806023del	(Likely) benign	1 lab	8690e1f16e
2:96940814 SNRNP200 C>T	2	96940814	96940814	C	T	SNRNP200	c.6347G>A	NM_014014.5	NP_054733.2:p.(Cys2116Tyr)	NC_000002.11:g.96940814C>T	VUS	1 lab	8699eb7bf9
13:32936690 BRCA2 A>C	13	32936690	32936690	A	C	BRCA2	c.7836A>C	NM_000059.3	NP_000050.2:p.(Pro2612=)	NC_000013.10:g.32936690A>C	(Likely) benign	1 lab	869c300e9d
9:744505 KANK1 G>A	9	744505	744505	G	A	KANK1	c.3912G>A	NM_015158.4	NP_055973.2:p.(Ala1304=)	NC_000009.11:g.744505G>A	(Likely) benign	1 lab	9d3fcf8247
17:65850811 BPTF C>T	17	65850811	65850811	C	T	BPTF	c.1369C>T	NM_182641.4	NP_872579.2:p.(Arg457Ter)	NC_000017.10:g.65850811C>T	(Likely) pathogenic	1 lab	86a1371277
13:32911085 BRCA2 GA>G	13	32911085	32911087	GA	G	BRCA2	c.2595del	NM_000059.3	NP_000050.2:p.(Glu866LysfsTer8)	NC_000013.10:g.32911087del	(Likely) pathogenic	1 lab	86a17aaa8f
13:32911278 BRCA2 T>G	13	32911278	32911278	T	G	BRCA2	c.2786T>G	NM_000059.3	NP_000050.2:p.(Leu929Ter)	NC_000013.10:g.32911278T>G	(Likely) pathogenic	1 lab	86a63c9bbb
2:179604865 TTN T>C	2	179604865	179604865	T	C	TTN	c.13095A>G	NM_001267550.2	NP_001254479.2:p.(Ala4365=)	NC_000002.11:g.179604865T>C	(Likely) benign	1 lab	86ab38cf2a
2:179644210 TTN C>T	2	179644210	179644210	C	T	TTN	c.3730-21G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179644210C>T	(Likely) benign	1 lab	86acc63a56
13:23894760 SGCG C>T	13	23894760	23894760	C	T	SGCG	c.579-16C>T	NM_000231.2	NP_000222.1:p.?	NC_000013.10:g.23894760C>T	(Likely) benign	1 lab	86aea34f75
2:179659659 TTN C>T	2	179659659	179659659	C	T	TTN	c.1235G>A	NM_001267550.2	NP_001254479.2:p.(Gly412Asp)	NC_000002.11:g.179659659C>T	(Likely) benign	1 lab	86af1d7ed7
4:187209662 F11 G>A	4	187209662	187209662	G	A	F11	c.1772G>A	NM_000128.3	NP_000119.1:p.(Gly591Asp)	NC_000004.11:g.187209662G>A	(Likely) pathogenic	1 lab	86b1c2bc37
2:241728672 KIF1A G>T	2	241728672	241728672	G	T	KIF1A	c.164C>A	NM_001244008.2	NP_001230937.1:p.(Ser55Tyr)	NC_000002.11:g.241728672G>T	VUS	1 lab	86b50287f4
3:37053595 MLH1 G>T	3	37053595	37053595	G	T	MLH1	c.677+5G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053595G>T	(Likely) pathogenic	1 lab	86b5ff35e9
17:7577570 TP53 C>A	17	7577570	7577570	C	A	TP53	c.711G>T	NM_000546.5	NP_000537.3:p.(Met237Ile)	NC_000017.10:g.7577570C>A	(Likely) pathogenic	1 lab	86b67c5113
3:121980562 CASR G>A	3	121980562	121980562	G	A	CASR	c.680G>A	NM_000388.4	NP_000379.3:p.(Arg227Gln)	NC_000003.11:g.121980562G>A	(Likely) pathogenic	1 lab	86b8647fb2
1:210856722 KCNH1 T>C	1	210856722	210856722	T	C	KCNH1	c.2871A>G	NM_172362.3	NP_758872.1:p.(Ile957Met)	NC_000001.10:g.210856722T>C	VUS	1 lab	0cff5e6aae
2:47707876 MSH2 G>C	2	47707876	47707876	G	C	MSH2	c.2500G>C	NM_000251.3	NP_000242.1:p.(Ala834Pro)	NC_000002.11:g.47707876G>C	VUS	1 lab	86c0855019
4:158091679 GLRB A>G	4	158091679	158091679	A	G	GLRB	c.1293A>G	NM_000824.4	NP_000815.1:p.(Glu431=)	NC_000004.11:g.158091679A>G	(Likely) benign	1 lab	0d0ada64b6
2:215610446 BARD1 CT>C	2	215610446	215610447	CT	C	BARD1	c.1809del	NM_000465.4	NP_000456.2:p.(Val604Ter)	NC_000002.11:g.215610447del	(Likely) pathogenic	1 lab	86c2b4fd38
2:122288503 CLASP1 G>A	2	122288503	122288503	G	A	CLASP1	c.196-602C>T	NM_001395891.1	NP_001382820.1:p.?	NC_000002.11:g.122288503G>A	(Likely) pathogenic	1 lab	86c68a6942
15:28397910 HERC2 C>T	15	28397910	28397910	C	T	HERC2	c.10813G>A	NM_004667.5	NP_004658.3:p.(Gly3605Ser)	NC_000015.9:g.28397910C>T	VUS	1 lab	86c9f5779f
2:228113203 COL4A3 C>T	2	228113203	228113203	C	T	COL4A3	c.513C>T	NM_000091.4	NP_000082.2:p.(Gly171=)	NC_000002.11:g.228113203C>T	(Likely) benign	1 lab	0d0badb9c2
7:138417596 ATP6V0A4 T>TA	7	138417596	138417609	T	TA	ATP6V0A4	c.1908+25dup	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138417609dup	(Likely) benign	1 lab	05e68cc7b8
11:62439569 UQCC3 G>A	11	62439569	62439569	G	A	UQCC3	c.265G>A	NM_001085372.2	NP_001078841.1:p.(Gly89Ser)	NC_000011.9:g.62439569G>A	(Likely) benign	1 lab	86cb471c50
1:110709720 SLC6A17 G>A	1	110709720	110709720	G	A	SLC6A17	c.169G>A	NM_001010898.2	NP_001010898.1:p.(Ala57Thr)	NC_000001.10:g.110709720G>A	(Likely) benign	1 lab	86cb7b79fc
5:37022138 NIPBL A>G	5	37022138	37022138	A	G	NIPBL				NC_000005.9:g.37022138A>G	(Likely) pathogenic	1 lab	86cd13ec94
21:43816130 TMPRSS3 C>G	21	43816130	43816130	C	G	TMPRSS3	c.-131G>C	NM_001256317.3	NP_001243246.1:p.?	NC_000021.8:g.43816130C>G	(Likely) benign	1 lab	86d0418977
14:23886900 MYH7 C>CG	14	23886900	23886901	C	CG	MYH7	c.4170-6_4170-5insC	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886900_23886901insG	(Likely) benign	1 lab	86d44f66a7
19:7593785 MCOLN1 T>G	19	7593785	7593785	T	G	MCOLN1	c.1063T>G	NM_020533.3	NP_065394.1:p.(Tyr355Asp)	NC_000019.9:g.7593785T>G	VUS	1 lab	073060ad44
20:33517253 GSS G>A	20	33517253	33517253	G	A	GSS	c.1252C>T	NM_001322495.1	NP_001309424.1:p.(Arg418Ter)	NC_000020.10:g.33517253G>A	(Likely) pathogenic	1 lab	05e942feae
18:29125882 DSG2 A>ATAGAT	18	29125882	29125887	A	ATAGAT	DSG2	c.2534_2538dup	NM_001943.5	NP_001934.2:p.(Ile847Ter)	NC_000018.9:g.29125883_29125887dup	VUS	1 lab	05f08f639c
17:79892986 PYCR1 C>T	17	79892986	79892986	C	T	PYCR1	c.356G>A	NM_006907.2	NP_008838.2:p.(Arg119His)	NC_000017.10:g.79892986C>T	(Likely) pathogenic	1 lab	86e4ba7cbd
2:203397360 BMPR2 T>A	2	203397360	203397360	T	A	BMPR2	c.1181T>A	NM_001204.7	NP_001195.2:p.(Leu394Ter)	NC_000002.11:g.203397360T>A	(Likely) pathogenic	1 lab	05f72c3dca
2:183817901 NCKAP1 T>TG	2	183817901	183817902	T	TG	NCKAP1	c.2311dup	NM_013436.5	NP_038464.1:p.(Gln771ProfsTer52)	NC_000002.11:g.183817902dup	(Likely) pathogenic	1 lab	86e669915c
17:41228577 BRCA1 C>A	17	41228577	41228577	C	A	BRCA1	c.4412G>T	NM_007294.3	NP_009225.1:p.(Gly1471Val)	NC_000017.10:g.41228577C>A	(Likely) benign	1 lab	86e9519810
1:94496571 ABCA4 G>A	1	94496571	94496571	G	A	ABCA4	c.4234C>T	NM_000350.2	NP_000341.2:p.(Gln1412Ter)	NC_000001.10:g.94496571G>A	(Likely) pathogenic	1 lab	86eb25be65
11:65309159 LTBP3 G>T	11	65309159	65309159	G	T	LTBP3	c.2637C>A	NM_001130144.2	NP_001123616.1:p.(Pro879=)	NC_000011.9:g.65309159G>T	(Likely) benign	1 lab	0d0dd56e04
1:36299677 AGO4 G>A	1	36299677	36299677	G	A	AGO4	c.1466G>A	NM_017629.4	NP_060099.2:p.(Gly489Asp)	NC_000001.10:g.36299677G>A	VUS	1 lab	86f2b2d8a2
10:89692885 PTEN C>G	10	89692885	89692885	C	G	PTEN	c.369C>G	NM_000314.4	NP_000305.3:p.(His123Gln)	NC_000010.10:g.89692885C>G	(Likely) pathogenic	1 lab	86f848dfa4
X:152960288 SLC6A8 T>C	X	152960288	152960288	T	C	SLC6A8	c.1711T>C	NM_005629.4	NP_005620.1:p.(Cys571Arg)	NC_000023.10:g.152960288T>C	VUS	1 lab	86f8c3a111
7:73477965 ELN G>A	7	73477965	73477965	G	A	ELN	c.2119G>A	NM_001278939.1	NP_001265868.1:p.(Ala707Thr)	NC_000007.13:g.73477965G>A	(Likely) benign	1 lab	86f95a8491
3:169482752 TERC A>C	3	169482752	169482752	A	C	TERC	n.97T>G	NR_001566.1		NC_000003.11:g.169482752A>C	(Likely) pathogenic	1 lab	86fd979275
16:89998995 TUBB3 G>A	16	89998995	89998995	G	A	TUBB3	c.74G>A	NM_006086.4	NP_006077.2:p.(Ser25Asn)	NC_000016.9:g.89998995G>A	(Likely) pathogenic	1 lab	8701c8ea8e
5:43653243 NNT C>T	5	43653243	43653243	C	T	NNT	c.1987C>T	NM_012343.3	NP_036475.3:p.(Leu663Phe)	NC_000005.9:g.43653243C>T	(Likely) benign	1 lab	8704f6d315
1:201330342 TNNT2 C>T	1	201330342	201330342	C	T	TNNT2	c.780+65G>A	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201330342C>T	(Likely) benign	1 lab	8706bde6d6
12:52180568 SCN8A CTTTGACA>C	12	52180568	52180575	CTTTGACA	C	SCN8A	c.4186_4192del	NM_001330260.2	NP_001317189.1:p.(Phe1396MetfsTer12)	NC_000012.11:g.52180569_52180575del	(Likely) pathogenic	1 lab	8706cce244
X:153583393 FLNA T>G	X	153583393	153583393	T	G	FLNA	c.5017A>C	NM_001110556.1	NP_001104026.1:p.(Thr1673Pro)	NC_000023.10:g.153583393T>G	VUS	1 lab	87072bfdb2
3:38812827 SCN10A T>G	3	38812827	38812827	T	G	SCN10A	c.542A>C	NM_006514.3	NP_006505.3:p.(Glu181Ala)	NC_000003.11:g.38812827T>G	VUS	1 lab	87077c2904
3:186257284 CRYGS C>T	3	186257284	186257284	C	T	CRYGS	c.124G>A	NM_017541.2	NP_060011.1:p.(Val42Met)	NC_000003.11:g.186257284C>T	(Likely) pathogenic	1 lab	870a7e69e5
12:8998025 A2ML1 T>C	12	8998025	8998025	T	C	A2ML1	c.1477-13T>C	NM_144670.6	NP_653271.3:p.?	NC_000012.11:g.8998025T>C	(Likely) benign	1 lab	870c11d0e9
2:228029433 COL4A3 C>T	2	228029433	228029433	C	T	COL4A3	c.-10C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228029433C>T	(Likely) benign	1 lab	870f291557
X:154088848 F8 G>C	X	154088848	154088848	G	C	F8	c.6759C>G	NM_000132.3	NP_000123.1:p.(Phe2253Leu)	NC_000023.10:g.154088848G>C	(Likely) benign	1 lab	870f61d050
5:149769586 TCOF1 G>A	5	149769586	149769586	G	A	TCOF1	c.3183G>A	NM_001135243.1	NP_001128715.1:p.(Gln1061=)	NC_000005.9:g.149769586G>A	(Likely) pathogenic	1 lab	870fb51fce
3:37061779 MLH1 T>C	3	37061779	37061779	T	C	MLH1	c.885-22T>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37061779T>C	(Likely) benign	1 lab	8711937bdb
1:43395599 SLC2A1 G>A	1	43395599	43395599	G	A	SLC2A1	c.624C>T	NM_006516.2	NP_006507.2:p.(Pro208=)	NC_000001.10:g.43395599G>A	(Likely) benign	1 lab	8712c22dea
2:29016763 PPP1CB G>A	2	29016763	29016763	G	A	PPP1CB	c.779G>A	NM_002709.3	NP_002700.1:p.(Arg260Gln)	NC_000002.11:g.29016763G>A	(Likely) pathogenic	1 lab	87164520eb
12:112888163 PTPN11 G>T	12	112888163	112888163	G	T	PTPN11				NC_000012.11:g.112888163G>T	(Likely) pathogenic	1 lab	87192814dd
15:80454621 FAH A>C	15	80454621	80454621	A	C	FAH	c.398A>C	NM_000137.2	NP_000128.1:p.(His133Pro)	NC_000015.9:g.80454621A>C	(Likely) pathogenic	1 lab	8719699dd6
19:50827057 KCNC3 C>T	19	50827057	50827057	C	T	KCNC3	c.1153G>A	NM_004977.3	NP_004968.2:p.(Asp385Asn)	NC_000019.9:g.50827057C>T	VUS	1 lab	871a39e9d6
6:66204782 EYS G>T	6	66204782	66204782	G	T	EYS	c.522C>A	NM_001142800.1	NP_001136272.1:p.(Cys174Ter)	NC_000006.11:g.66204782G>T	(Likely) pathogenic	1 lab	871a48e8ab
7:73462476 ELN T>G	7	73462476	73462476	T	G	ELN	c.690T>G	NM_001278939.1	NP_001265868.1:p.(Tyr230Ter)	NC_000007.13:g.73462476T>G	(Likely) pathogenic	1 lab	871a595972
9:98239882 PTCH1 C>T	9	98239882	98239882	C	T	PTCH1	c.1450G>A	NM_000264.3	NP_000255.2:p.(Gly484Arg)	NC_000009.11:g.98239882C>T	(Likely) pathogenic	1 lab	871ad9f69a
3:69843537 MITF G>A	3	69843537	69843537	G	A	MITF	c.104+54685G>A	NM_001354604.2	NP_001341533.1:p.?	NC_000003.11:g.69843537G>A	(Likely) benign	1 lab	871b693325
8:72127865 EYA1 A>G	8	72127865	72127865	A	G	EYA1	c.1459T>C	NM_000503.5	NP_000494.2:p.(Ser487Pro)	NC_000008.10:g.72127865A>G	(Likely) pathogenic	1 lab	871f2e5b0f
14:51378873 PYGL C>T	14	51378873	51378873	C	T	PYGL	c.1768+1G>A	NM_002863.4	NP_002854.3:p.?	NC_000014.8:g.51378873C>T	(Likely) pathogenic	1 lab	871f68fe30
15:99251127 IGF1R A>G	15	99251127	99251127	A	G	IGF1R	c.431A>G	NM_000875.4	NP_000866.1:p.(Glu144Gly)	NC_000015.9:g.99251127A>G	VUS	1 lab	872420033a
20:33586558 MYH7B C>T	20	33586558	33586558	C	T	MYH7B	c.4156C>T	NM_020884.4	NP_065935.3:p.(Arg1386Trp)	NC_000020.10:g.33586558C>T	VUS	1 lab	8725f74fcf
9:136507594 DBH C>T	9	136507594	136507594	C	T	DBH	c.744+8C>T	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136507594C>T	(Likely) benign	1 lab	8728c228b5
11:88961101 TYR G>A	11	88961101	88961101	G	A	TYR	c.1147G>A	NM_000372.5	NP_000363.1:p.(Asp383Asn)	NC_000011.9:g.88961101G>A	(Likely) pathogenic	1 lab	8729d9d053
18:77456077 CTDP1 C>T	18	77456077	77456077	C	T	CTDP1	c.492+7C>T	NM_004715.4	NP_004706.3:p.?	NC_000018.9:g.77456077C>T	(Likely) benign	1 lab	0e3c81ffd3
12:22076761 ABCC9 A>G	12	22076761	22076761	A	G	ABCC9	c.406+2115T>C	NM_005691.3	NP_005682.2:p.?	NC_000012.11:g.22076761A>G	(Likely) benign	1 lab	872bae3506
16:89620302 SPG7 G>A	16	89620302	89620302	G	A	SPG7	c.2037G>A	NM_003119.2	NP_003110.1:p.(Ala679=)	NC_000016.9:g.89620302G>A	(Likely) benign	1 lab	872e64a9d0
10:104678833 CNNM2 C>T	10	104678833	104678833	C	T	CNNM2	c.596C>T	NM_017649.4	NP_060119.3:p.(Ala199Val)	NC_000010.10:g.104678833C>T	VUS	1 lab	87304e93d8
1:120611715 NOTCH2 A>G	1	120611715	120611715	A	G	NOTCH2	c.73+233T>C	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611715A>G	(Likely) benign	1 lab	05fc301dc0
X:129273784 AIFM1 T>C	X	129273784	129273784	T	C	AIFM1	c.844A>G	NM_004208.3	NP_004199.1:p.(Thr282Ala)	NC_000023.10:g.129273784T>C	VUS	1 lab	87334c5cbb
4:123170640 KIAA1109 A>T	4	123170640	123170640	A	T	KIAA1109				NC_000004.11:g.123170640A>T	VUS	1 lab	8735505dd1
18:34340626 FHOD3 G>T	18	34340626	34340626	G	T	FHOD3	c.3956G>T	NM_025135.4	NP_079411.2:p.(Ser1319Ile)	NC_000018.9:g.34340626G>T	(Likely) benign	1 lab	87361aed65
2:179417429 TTN A>C	2	179417429	179417429	A	C	TTN	c.90198T>G	NM_001267550.2	NP_001254479.2:p.(Val30066=)	NC_000002.11:g.179417429A>C	(Likely) benign	1 lab	06035f8934
20:21695404 PAX1 G>A	20	21695404	21695404	G	A	PAX1	c.1568G>A	NM_006192.4	NP_006183.2:p.(Trp523Ter)	NC_000020.10:g.21695404G>A	VUS	1 lab	8737f9474e
1:74936485 TNNI3K T>C	1	74936485	74936485	T	C	TNNI3K	c.2121+7251T>C	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74936485T>C	(Likely) benign	1 lab	87381c3bb7
2:179644173 TTN GAAGA>G	2	179644173	179644179	GAAGA	G	TTN	c.3742_3745del	NM_001256850.1	NP_001243779.1:p.(Ser1248ProfsTer14)	NC_000002.11:g.179644176_179644179del	(Likely) pathogenic	1 lab	0605cce23b
2:191862948 STAT1 T>C	2	191862948	191862948	T	C	STAT1	c.628A>G	NM_007315.3	NP_009330.1:p.(Arg210Gly)	NC_000002.11:g.191862948T>C	(Likely) pathogenic	1 lab	873a59e942
3:123426787 MYLK C>T	3	123426787	123426787	C	T	MYLK	c.2204G>A	NM_053025.3	NP_444253.3:p.(Gly735Asp)	NC_000003.11:g.123426787C>T	VUS	1 lab	875589d461
12:133146544 FBRSL1 G>A	12	133146544	133146544	G	A	FBRSL1	c.724G>A	NM_001142641.2	NP_001136113.1:p.(Gly242Arg)	NC_000012.11:g.133146544G>A	VUS	1 lab	0606e390a5
5:94820541 SKIC3 C>T	5	94820541	94820541	C	T	SKIC3	c.3940G>A	NM_014639.3	NP_055454.1:p.(Glu1314Lys)	NC_000005.9:g.94820541C>T	(Likely) benign	1 lab	0d19f481e8
4:187112826 CYP4V2 A>G	4	187112826	187112826	A	G	CYP4V2	c.-152A>G	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187112826A>G	(Likely) benign	1 lab	874119291e
14:50626157 SOS2 A>G	14	50626157	50626157	A	G	SOS2	c.1844T>C	NM_006939.3	NP_008870.2:p.(Met615Thr)	NC_000014.8:g.50626157A>G	VUS	1 lab	87426d0511
2:167129135 SCN9A G>A	2	167129135	167129135	G	A	SCN9A	c.3092C>T	NM_002977.3	NP_002968.1:p.(Thr1031Ile)	NC_000002.11:g.167129135G>A	VUS	1 lab	8744523f39
15:99456510 IGF1R A>G	15	99456510	99456510	A	G	IGF1R	c.1827A>G	NM_000875.5	NP_000866.1:p.(Ser609=)	NC_000015.9:g.99456510A>G	(Likely) pathogenic	1 lab	8746db895e
15:51503148 CYP19A1 G>A	15	51503148	51503148	G	A	CYP19A1	c.1369C>T	NM_031226.2	NP_112503.1:p.(Arg457Ter)	NC_000015.9:g.51503148G>A	(Likely) pathogenic	1 lab	874c5407c6
3:38770009 SCN10A C>T	3	38770009	38770009	C	T	SCN10A	c.2640+24G>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38770009C>T	(Likely) benign	1 lab	874e1c7bd5
14:23901898 MYH7 G>A	14	23901898	23901898	G	A	MYH7	c.452C>T	NM_000257.4	NP_000248.2:p.(Pro151Leu)	NC_000014.8:g.23901898G>A	VUS	1 lab	874fa4ddcf
15:90768918 SEMA4B C>T	15	90768918	90768918	C	T	SEMA4B	c.1547C>T	NM_020210.3	NP_064595.2:p.(Ser516Leu)	NC_000015.9:g.90768918C>T	VUS	1 lab	8751f50f8c
2:179395186 TTN C>A	2	179395186	179395186	C	A	TTN	c.106156G>T	NM_001267550.2	NP_001254479.2:p.(Val35386Leu)	NC_000002.11:g.179395186C>A	(Likely) benign	1 lab	87522d5cc7
7:91708804 AKAP9 G>A	7	91708804	91708804	G	A	AKAP9	c.7357G>A	NM_005751.4	NP_005742.4:p.(Val2453Met)	NC_000007.13:g.91708804G>A	(Likely) benign	1 lab	0d1aef401c
11:118037638 SCN2B C>T	11	118037638	118037638	C	T	SCN2B	c.612G>A	NM_004588.4	NP_004579.1:p.(Thr204=)	NC_000011.9:g.118037638C>T	(Likely) benign	1 lab	87577ca181
X:38145582 RPGR TTCC>T	X	38145582	38145587	TTCC	T	RPGR	c.2667_2669del	NM_001034853.1	NP_001030025.1:p.(Glu890del)	NC_000023.10:g.38145585_38145587del	(Likely) benign	1 lab	87587edf30
7:99705159 AP4M1 C>T	7	99705159	99705159	C	T	AP4M1	c.*654C>T	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99705159C>T	VUS	1 lab	0608cbdb61
3:47456122 SCAP C>A	3	47456122	47456122	C	A	SCAP	c.3327G>T	NM_012235.2	NP_036367.2:p.(Ser1109=)	NC_000003.11:g.47456122C>A	(Likely) benign	1 lab	875d71b4ca
6:52317281 EFHC1 G>A	6	52317281	52317281	G	A	EFHC1	c.574-205G>A	NM_018100.4	NP_060570.2:p.?	NC_000006.11:g.52317281G>A	(Likely) benign	1 lab	0d1b3ee91c
2:26684706 OTOF G>A	2	26684706	26684706	G	A	OTOF				NC_000002.11:g.26684706G>A	(Likely) benign	1 lab	98be33eec6
13:32914812 BRCA2 C>T	13	32914812	32914812	C	T	BRCA2	c.6320C>T	NM_000059.3	NP_000050.2:p.(Pro2107Leu)	NC_000013.10:g.32914812C>T	(Likely) benign	1 lab	8761749439
1:197397133 CRB1 T>C	1	197397133	197397133	T	C	CRB1	c.2676+2T>C	NM_201253.2	NP_957705.1:p.?	NC_000001.10:g.197397133T>C	(Likely) pathogenic	1 lab	8761e2f215
9:136314977 ADAMTS13 C>CG	9	136314977	136314980	C	CG	ADAMTS13	c.2938dup	NM_139027.6	NP_620596.2:p.(Ala980GlyfsTer8)	NC_000009.11:g.136314980dup	(Likely) pathogenic	1 lab	8764341603
7:144095600 NOBOX A>G	7	144095600	144095600	A	G	NOBOX	c.1549T>C	NM_001080413.3	NP_001073882.3:p.(Phe517Leu)	NC_000007.13:g.144095600A>G	(Likely) benign	1 lab	060afc5e76
16:69693819 NFAT5 G>A	16	69693819	69693819	G	A	NFAT5	c.1087+17G>A	NM_138714.4	NP_619728.2:p.?	NC_000016.9:g.69693819G>A	(Likely) benign	1 lab	0d1cfe6cb2
4:6303941 WFS1 A>G	4	6303941	6303941	A	G	WFS1	c.2419A>G	NM_006005.3	NP_005996.2:p.(Ser807Gly)	NC_000004.11:g.6303941A>G	VUS	1 lab	876c8431ec
X:38145631 RPGR CCTTCCTCCCCTTCTT>C	X	38145631	38145647	CCTTCCTCCCCTTCTT	C	RPGR	c.2606_2620del	NM_001034853.2	NP_001030025.1:p.(Glu869_Glu873del)	NC_000023.10:g.38145633_38145647del	(Likely) benign	1 lab	876cfc004d
2:131355590 CFC1 C>G	2	131355590	131355590	C	G	CFC1	c.248-35G>C	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131355590C>G	(Likely) benign	1 lab	876ea3f21e
12:80888730 MISSING AT>A	12	80888730	80888731	AT	A	MISSING				NC_000012.11:g.80888731del	(Likely) pathogenic	1 lab	8770d3045a
2:179462557 TTN T>C	2	179462557	179462557	T	C	TTN	c.57263-11A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179462557T>C	(Likely) benign	1 lab	87712b0d50
5:77425027 AP3B1 TA>T	5	77425027	77425028	TA	T	AP3B1				NC_000005.9:g.77425028del	(Likely) pathogenic	1 lab	8771e050cf
X:43809205 NDP AACGAC>A	X	43809205	43809212	AACGAC	A	NDP	c.237_241del	NM_000266.4	NP_000257.1:p.(Ser80GlnfsTer67)	NC_000023.10:g.43809208_43809212del	(Likely) pathogenic	1 lab	8775558b0d
7:107335064 SLC26A4 A>C	7	107335064	107335064	A	C	SLC26A4	c.1342-2A>C	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107335064A>C	(Likely) pathogenic	1 lab	877911e4f9
13:32911717 BRCA2 T>C	13	32911717	32911717	T	C	BRCA2	c.3225T>C	NM_000059.3	NP_000050.2:p.(Ser1075=)	NC_000013.10:g.32911717T>C	(Likely) benign	1 lab	877bdfc4a1
16:57789938 KATNB1 C>T	16	57789938	57789938	C	T	KATNB1	c.1678C>T	NM_005886.3	NP_005877.2:p.(Leu560=)	NC_000016.9:g.57789938C>T	VUS	1 lab	14a936ebaf
12:8975843 A2ML1 T>C	12	8975843	8975843	T	C	A2ML1	c.128T>C	NM_144670.4	NP_653271.2:p.(Leu43Pro)	NC_000012.11:g.8975843T>C	VUS	1 lab	877be3a93e
12:6128662 VWF G>A	12	6128662	6128662	G	A	VWF	c.3922C>T	NM_000552.5	NP_000543.3:p.(Arg1308Cys)	NC_000012.11:g.6128662G>A	(Likely) pathogenic	1 lab	877d03947f
3:9976537 CRELD1 C>T	3	9976537	9976537	C	T	CRELD1	c.193C>T	NM_001031717.3	NP_001026887.1:p.(Arg65Trp)	NC_000003.11:g.9976537C>T	(Likely) benign	1 lab	877d83c2ad
1:151377514 POGZ C>T	1	151377514	151377514	C	T	POGZ	c.3997G>A	NM_015100.4	NP_055915.2:p.(Asp1333Asn)	NC_000001.10:g.151377514C>T	VUS	1 lab	8785365359
21:35736384 KCNE2 G>A	21	35736384	35736384	G	A	KCNE2	c.-79G>A	NM_172201.1	NP_751951.1:p.?	NC_000021.8:g.35736384G>A	(Likely) benign	1 lab	8786bd7ee9
5:170837543 NPM1 C>CTCTG	5	170837543	170837547	C	CTCTG	NPM1	c.860_863dup	NM_002520.7	NP_002511.1:p.(Trp288CysfsTer12)	NC_000005.9:g.170837544_170837547dup	(Likely) pathogenic	1 lab	8787b6f9d0
17:40765930 TUBG1 C>T	17	40765930	40765930	C	T	TUBG1	c.757C>T	NM_001070.5	NP_001061.2:p.(Leu253Phe)	NC_000017.10:g.40765930C>T	(Likely) pathogenic	1 lab	8789175454
X:149638516 MAMLD1 C>A	X	149638516	149638516	C	A	MAMLD1	c.596C>A	NM_001177465.2	NP_001170936.1:p.(Ser199Ter)	NC_000023.10:g.149638516C>A	(Likely) pathogenic	1 lab	87892717b9
10:89624047 PTEN C>G	10	89624047	89624047	C	G	PTEN	c.-180C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624047C>G	VUS	1 lab	878c1c811e
10:102509532 PAX2 G>C	10	102509532	102509532	G	C	PAX2	c.73G>C	NM_003988.3	NP_003979.2:p.(Gly25Arg)	NC_000010.10:g.102509532G>C	VUS	1 lab	878ca902b6
12:21953990 ABCC9 G>A	12	21953990	21953990	G	A	ABCC9				NC_000012.11:g.21953990G>A	(Likely) benign	1 lab	878fdb5c74
3:58129330 FLNB C>A	3	58129330	58129330	C	A	FLNB				NC_000003.11:g.58129330C>A	VUS	1 lab	87900a5fe5
3:48623682 COL7A1 A>C	3	48623682	48623682	A	C	COL7A1	c.3551-3T>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48623682A>C	(Likely) pathogenic	1 lab	87907c8cfb
10:112540889 RBM20 C>G	10	112540889	112540889	C	G	RBM20	c.522C>G	NM_001134363.3	NP_001127835.2:p.(Pro174=)	NC_000010.10:g.112540889C>G	(Likely) benign	1 lab	879de48d31
2:29296233 PCARE A>C	2	29296233	29296233	A	C	PCARE	c.895T>G	NM_001029883.3	NP_001025054.1:p.(Tyr299Asp)	NC_000002.11:g.29296233A>C	VUS	1 lab	879dfa6e07
1:45347395 EIF2B3 G>A	1	45347395	45347395	G	A	EIF2B3	c.673C>T	NM_020365.5	NP_065098.1:p.(Arg225Trp)	NC_000001.10:g.45347395G>A	(Likely) pathogenic	1 lab	87a058994b
18:12358668 AFG3L2 C>T	18	12358668	12358668	C	T	AFG3L2	c.1026+1G>A	NM_006796.2	NP_006787.2:p.?	NC_000018.9:g.12358668C>T	(Likely) pathogenic	1 lab	0d2066a860
X:153455599 OPN1MW T>C	X	153455599	153455599	T	C	OPN1MW	c.466T>C	NM_000513.2	NP_000504.1:p.(Cys156Arg)	NC_000023.10:g.153455599T>C	VUS	1 lab	87a0f70e9e
3:154836556 MME C>T	3	154836556	154836556	C	T	MME	c.676C>T	NM_007289.4	NP_009220.2:p.(Leu226Phe)	NC_000003.11:g.154836556C>T	VUS	1 lab	87a3920f2a
1:247588813 NLRP3 G>A	1	247588813	247588813	G	A	NLRP3	c.2062G>A	NM_001243133.2	NP_001230062.1:p.(Glu688Lys)	NC_000001.10:g.247588813G>A	(Likely) pathogenic	1 lab	0d250e873f
2:10581656 ODC1 T>C	2	10581656	10581656	T	C	ODC1	c.1220A>G	NM_002539.3	NP_002530.1:p.(Tyr407Cys)	NC_000002.11:g.10581656T>C	VUS	1 lab	87a46b76e8
4:114277671 ANK2 G>T	4	114277671	114277671	G	T	ANK2	c.7897G>T	NM_001148.4	NP_001139.3:p.(Asp2633Tyr)	NC_000004.11:g.114277671G>T	(Likely) benign	1 lab	87a540e6b3
17:6528125 KIAA0753 G>A	17	6528125	6528125	G	A	KIAA0753	c.775C>T	NM_014804.2	NP_055619.2:p.(Gln259Ter)	NC_000017.10:g.6528125G>A	(Likely) pathogenic	1 lab	87a5713a65
6:7581119 DSP C>G	6	7581119	7581119	C	G	DSP	c.4696C>G	NM_004415.3	NP_004406.2:p.(Leu1566Val)	NC_000006.11:g.7581119C>G	VUS	1 lab	87a902e7c9
10:89717630 PTEN C>T	10	89717630	89717630	C	T	PTEN	c.655C>T	NM_000314.4	NP_000305.3:p.(Gln219Ter)	NC_000010.10:g.89717630C>T	(Likely) pathogenic	1 lab	87a9affcb3
8:57079991 PLAG1 TC>T	8	57079991	57079992	TC	T	PLAG1	c.313del	NM_002655.2	NP_002646.2:p.(Asp105IlefsTer3)	NC_000008.10:g.57079992del	(Likely) pathogenic	1 lab	87aa65e578
22:41542838 EP300 T>A	22	41542838	41542838	T	A	EP300	c.2131+18T>A	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41542838T>A	(Likely) benign	1 lab	06127a120d
X:128657301 SMARCA1 T>C	X	128657301	128657301	T	C	SMARCA1	c.47A>G	NM_003069.5	NP_003060.2:p.(Asp16Gly)	NC_000023.10:g.128657301T>C	VUS	1 lab	061295c71a
16:84066930 SLC38A8 T>C	16	84066930	84066930	T	C	SLC38A8	c.530+3A>G	NM_001080442.3	NP_001073911.1:p.?	NC_000016.9:g.84066930T>C	VUS	1 lab	87b025c2ef
1:41300682 KCNQ4 C>T	1	41300682	41300682	C	T	KCNQ4	c.1657C>T	NM_004700.3	NP_004691.2:p.(Leu553=)	NC_000001.10:g.41300682C>T	(Likely) benign	1 lab	87b293d603
17:33445627 RAD51D G>A	17	33445627	33445627	G	A	RAD51D	c.156C>T	NM_002878.4	NP_002869.3:p.(Ala52=)	NC_000017.10:g.33445627G>A	VUS	1 lab	87b37b773e
15:91347463 BLM T>A	15	91347463	91347463	T	A	BLM	c.3625T>A	NM_000057.2	NP_000048.1:p.(Ser1209Thr)	NC_000015.9:g.91347463T>A	(Likely) benign	1 lab	87b5529891
1:151378471 POGZ G>A	1	151378471	151378471	G	A	POGZ	c.3040C>T	NM_015100.3	NP_055915.2:p.(Gln1014Ter)	NC_000001.10:g.151378471G>A	(Likely) pathogenic	1 lab	87b6687380
2:47705599 MSH2 T>C	2	47705599	47705599	T	C	MSH2	c.2399T>C	NM_000251.3	NP_000242.1:p.(Leu800Pro)	NC_000002.11:g.47705599T>C	VUS	1 lab	87bb5ba9e3
7:150706014 NOS3 G>A	7	150706014	150706014	G	A	NOS3	c.2113-4G>A	NM_000603.5	NP_000594.2:p.?	NC_000007.13:g.150706014G>A	(Likely) benign	1 lab	061c78220c
9:34649520 GALT G>T	9	34649520	34649520	G	T	GALT	c.1018G>T	NM_000155.4	NP_000146.2:p.(Glu340Ter)	NC_000009.11:g.34649520G>T	(Likely) pathogenic	1 lab	87c0c48955
5:161300193 GABRA1 C>T	5	161300193	161300193	C	T	GABRA1	c.326C>T	NM_000806.5	NP_000797.2:p.(Thr109Ile)	NC_000005.9:g.161300193C>T	VUS	1 lab	87c1ed0c91
12:133196864 P2RX2 G>GT	12	133196864	133196865	G	GT	P2RX2	c.567dup	NM_170683.3	NP_733783.1:p.(Thr190TyrfsTer82)	NC_000012.11:g.133196865dup	(Likely) benign	1 lab	87c88d409f
5:127607791 FBN2 CC>TT	5	127607791	127607792	CC	TT	FBN2	c.7859_7860delinsAA	NM_001999.4	NP_001990.2:p.(Gly2620Glu)	NC_000005.9:g.127607791_127607792delinsTT	VUS	1 lab	87ceea0d2d
18:7007225 LAMA1 CCT>C	18	7007225	7007227	CCT	C	LAMA1	c.4171_4172del	NM_005559.4	NP_005550.2:p.(Arg1391GlyfsTer19)	NC_000018.9:g.7007226_7007227del	(Likely) pathogenic	1 lab	87d25780f9
13:96229500 CLDN10 C>T	13	96229500	96229500	C	T	CLDN10	c.480C>T	NM_006984.5	NP_008915.1:p.(Ala160=)	NC_000013.10:g.96229500C>T	(Likely) benign	1 lab	0d2a80a136
17:17701687 RAI1 A>T	17	17701687	17701687	A	T	RAI1	c.5425A>T	NM_030665.4	NP_109590.3:p.(Lys1809Ter)	NC_000017.10:g.17701687A>T	(Likely) pathogenic	1 lab	062ae3dd22
4:79429905 FRAS1 T>A	4	79429905	79429905	T	A	FRAS1	c.9525T>A	NM_025074.7	NP_079350.5:p.(Tyr3175Ter)	NC_000004.11:g.79429905T>A	(Likely) pathogenic	1 lab	0d2cc97694
10:56287598 PCDH15 A>G	10	56287598	56287598	A	G	PCDH15	c.131T>C	NM_033056.4	NP_149045.3:p.(Val44Ala)	NC_000010.10:g.56287598A>G	VUS	1 lab	87dcedc685
17:36493515 GPR179 C>T	17	36493515	36493515	C	T	GPR179	c.991+1G>A	NM_001004334.3	NP_001004334.3:p.?	NC_000017.10:g.36493515C>T	(Likely) pathogenic	1 lab	87dec7f48f
2:47630397 MSH2 T>C	2	47630397	47630397	T	C	MSH2	c.67T>C	NM_000251.3	NP_000242.1:p.(Phe23Leu)	NC_000002.11:g.47630397T>C	(Likely) benign	1 lab	06256d178d
5:112177960 APC A>G	5	112177960	112177960	A	G	APC	c.6669A>G	NM_000038.5	NP_000029.2:p.(Ser2223=)	NC_000005.9:g.112177960A>G	(Likely) benign	1 lab	87e3958d1c
1:169510475 F5 G>T	1	169510475	169510475	G	T	F5	c.3853C>A	NM_000130.4	NP_000121.2:p.(Leu1285Ile)	NC_000001.10:g.169510475G>T	(Likely) benign	1 lab	87e6b65861
1:201337359 TNNT2 GAG>AA	1	201337359	201337361	GAG	AA	TNNT2	c.68-6_68-4delinsTT	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201337359_201337361delinsAA	VUS	1 lab	87e6dce804
19:39028560 RYR1 G>C	19	39028560	39028560	G	C	RYR1	c.11649G>C	NM_000540.2	NP_000531.2:p.(Leu3883=)	NC_000019.9:g.39028560G>C	(Likely) benign	1 lab	87e7029c62
8:42294889 SLC20A2 G>A	8	42294889	42294889	G	A	SLC20A2	c.1141C>T	NM_006749.4	NP_006740.1:p.(Arg381Cys)	NC_000008.10:g.42294889G>A	VUS	1 lab	87e72d4511
8:102644572 GRHL2 A>C	8	102644572	102644572	A	C	GRHL2				NC_000008.10:g.102644572A>C	VUS	1 lab	952c2270a6
20:34090584 CEP250 CTG>C	20	34090584	34090586	CTG	C	CEP250	c.4388_4389del	NM_007186.5	NP_009117.2:p.(Leu1463ArgfsTer23)	NC_000020.10:g.34090585_34090586del	(Likely) pathogenic	1 lab	87e76d8655
3:38647467 SCN5A A>G	3	38647467	38647467	A	G	SCN5A	c.1313T>C	NM_198056.2	NP_932173.1:p.(Met438Thr)	NC_000003.11:g.38647467A>G	VUS	1 lab	87eb53b06c
X:153590124 FLNA C>T	X	153590124	153590124	C	T	FLNA	c.2858G>A	NM_001110556.2	NP_001104026.1:p.(Gly953Glu)	NC_000023.10:g.153590124C>T	VUS	1 lab	87ee2f3488
2:10188167 KLF11 T>G	2	10188167	10188167	T	G	KLF11	c.703T>G	NM_003597.5	NP_003588.1:p.(Leu235Val)	NC_000002.11:g.10188167T>G	VUS	1 lab	14a98d8cc5
16:56913006 SLC12A3 C>CCGTGATG	16	56913006	56913008	C	CCGTGATG	SLC12A3	c.1203_1204insGTGATGC	NM_000339.2	NP_000330.2:p.(Ser402ValfsTer8)	NC_000016.9:g.56913007_56913008insGTGATGC	(Likely) pathogenic	1 lab	87f356d430
8:126059465 WASHC5 G>A	8	126059465	126059465	G	A	WASHC5	c.2488C>T	NM_014846.3	NP_055661.3:p.(Arg830Trp)	NC_000008.10:g.126059465G>A	VUS	1 lab	87f3ed8765
1:160106097 ATP1A2 C>T	1	160106097	160106097	C	T	ATP1A2	c.2500C>T	NM_000702.3	NP_000693.1:p.(Arg834Ter)	NC_000001.10:g.160106097C>T	VUS	1 lab	87f49710be
7:81634822 CACNA2D1 G>C	7	81634822	81634822	G	C	CACNA2D1	c.1516-9C>G	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81634822G>C	(Likely) benign	1 lab	87f95dbf82
Y:2655265 SRY T>C	Y	2655265	2655265	T	C	SRY	c.380A>G	NM_003140.3	NP_003131.1:p.(Tyr127Cys)	NC_000024.9:g.2655265T>C	(Likely) pathogenic	1 lab	87fb14e231
6:152746655 SYNE1 C>T	6	152746655	152746655	C	T	SYNE1	c.5128G>A	NM_182961.3	NP_892006.3:p.(Ala1710Thr)	NC_000006.11:g.152746655C>T	(Likely) benign	1 lab	87fbef27a9
2:32362009 SPAST A>G	2	32362009	32362009	A	G	SPAST	c.1385A>G	NM_014946.3	NP_055761.2:p.(Lys462Arg)	NC_000002.11:g.32362009A>G	VUS	1 lab	87fc617759
16:89345737 ANKRD11 G>A	16	89345737	89345737	G	A	ANKRD11	c.7213C>T	NM_001256182.1	NP_001243111.1:p.(Gln2405Ter)	NC_000016.9:g.89345737G>A	(Likely) pathogenic	1 lab	87fce13bd5
19:30193840 C19orf12 G>A	19	30193840	30193840	G	A	C19orf12	c.205C>T	NM_031448.4	NP_113636.2:p.(Gln69Ter)	NC_000019.9:g.30193840G>A	(Likely) pathogenic	1 lab	87fe0b42bf
4:114170950 ANK2 C>T	4	114170950	114170950	C	T	ANK2	c.922C>T	NM_001148.4	NP_001139.3:p.(Arg308Ter)	NC_000004.11:g.114170950C>T	(Likely) pathogenic	1 lab	8802f280c2
16:2135019 TSC2 C>T	16	2135019	2135019	C	T	TSC2	c.4561C>T	NM_000548.4	NP_000539.2:p.(Pro1521Ser)	NC_000016.9:g.2135019C>T	(Likely) benign	1 lab	88040a5ff6
3:38755492 SCN10A G>C	3	38755492	38755492	G	C	SCN10A	c.3761C>G	NM_006514.4	NP_006505.4:p.(Ala1254Gly)	NC_000003.11:g.38755492G>C	VUS	1 lab	88048d8422
9:125758855 RABGAP1 C>T	9	125758855	125758855	C	T	RABGAP1	c.1072C>T	NM_012197.3	NP_036329.3:p.(Arg358Ter)	NC_000009.11:g.125758855C>T	(Likely) pathogenic	1 lab	8806d83555
1:78392195 NEXN C>T	1	78392195	78392195	C	T	NEXN	c.586C>T	NM_144573.4	NP_653174.3:p.(Arg196Cys)	NC_000001.10:g.78392195C>T	(Likely) benign	1 lab	880923f2da
11:128709887 KCNJ1 C>T	11	128709887	128709887	C	T	KCNJ1	c.309G>A	NM_000220.4	NP_000211.1:p.(Ala103=)	NC_000011.9:g.128709887C>T	(Likely) benign	1 lab	880b7aa80e
11:66299137 BBS1 T>C	11	66299137	66299137	T	C	BBS1	c.1619T>C	NM_024649.4	NP_078925.3:p.(Leu540Pro)	NC_000011.9:g.66299137T>C	VUS	1 lab	880ef8253b
9:98220412 PTCH1 GA>G	9	98220412	98220414	GA	G	PTCH1	c.3050del	NM_000264.3	NP_000255.2:p.(Phe1017SerfsTer32)	NC_000009.11:g.98220414del	(Likely) pathogenic	1 lab	8811d9b9f9
13:20766934 GJB2 G>A	13	20766934	20766934	G	A	GJB2	c.-35C>T	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20766934G>A	(Likely) benign	1 lab	8812b55b0c
3:165547973 BCHE C>G	3	165547973	165547973	C	G	BCHE	c.849G>C	NM_000055.3	NP_000046.1:p.(Glu283Asp)	NC_000003.11:g.165547973C>G	VUS	1 lab	8814924a93
13:32945104 BRCA2 G>T	13	32945104	32945104	G	T	BRCA2	c.8499G>T	NM_000059.3	NP_000050.2:p.(Lys2833Asn)	NC_000013.10:g.32945104G>T	VUS	1 lab	8814bc5c5b
12:6701179 CHD4 T>C	12	6701179	6701179	T	C	CHD4				NC_000012.11:g.6701179T>C	(Likely) benign	1 lab	8815b4c0e5
1:228474031 OBSCN C>T	1	228474031	228474031	C	T	OBSCN	c.10544C>T	NM_001271223.2	NP_001258152.2:p.(Ser3515Leu)	NC_000001.10:g.228474031C>T	(Likely) benign	1 lab	88191ba924
10:88822414 GLUD1 T>C	10	88822414	88822414	T	C	GLUD1	c.920A>G	NM_005271.3	NP_005262.1:p.(Gln307Arg)	NC_000010.10:g.88822414T>C	VUS	1 lab	881e78fd7c
22:24909296 UPB1 C>T	22	24909296	24909296	C	T	UPB1	c.464C>T	NM_016327.3	NP_057411.1:p.(Ala155Val)	NC_000022.10:g.24909296C>T	VUS	1 lab	882435a7c3
6:31846735 SLC44A4 T>C	6	31846735	31846735	T	C	SLC44A4	c.23A>G	NM_025257.2	NP_079533.2:p.(Glu8Gly)	NC_000006.11:g.31846735T>C	VUS	1 lab	882697a993
17:66391335 ARSG G>A	17	66391335	66391335	G	A	ARSG	c.1212+1G>A	NM_014960.5	NP_055775.2:p.?	NC_000017.10:g.66391335G>A	(Likely) pathogenic	1 lab	8827c43870
2:47613793 EPCAM T>G	2	47613793	47613793	T	G	EPCAM	c.*41T>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47613793T>G	(Likely) benign	1 lab	882d57442a
20:10630968 JAG1 G>T	20	10630968	10630968	G	T	JAG1	c.1161C>A	NM_000214.2	NP_000205.1:p.(Gly387=)	NC_000020.10:g.10630968G>T	(Likely) benign	1 lab	883eb8dd85
2:179515481 TTN C>A	2	179515481	179515481	C	A	TTN	c.32404G>T	NM_133378.4	NP_596869.4:p.(Glu10802Ter)	NC_000002.11:g.179515481C>A	(Likely) pathogenic	1 lab	8833385023
22:41573432 EP300 C>T	22	41573432	41573432	C	T	EP300	c.5717C>T	NM_001429.4	NP_001420.2:p.(Thr1906Ile)	NC_000022.10:g.41573432C>T	VUS	1 lab	062dc306eb
4:55602765 KIT G>C	4	55602765	55602765	G	C	KIT	c.2586G>C	NM_000222.2	NP_000213.1:p.(Leu862=)	NC_000004.11:g.55602765G>C	(Likely) benign	1 lab	883370ff1d
15:72103870 NR2E3 G>A	15	72103870	72103870	G	A	NR2E3	c.166G>A	NM_014249.2	NP_055064.1:p.(Gly56Arg)	NC_000015.9:g.72103870G>A	(Likely) pathogenic	1 lab	883435212f
19:38974156 RYR1 G>A	19	38974156	38974156	G	A	RYR1	c.4934G>A	NM_000540.2	NP_000531.2:p.(Arg1645Gln)	NC_000019.9:g.38974156G>A	(Likely) pathogenic	1 lab	8835917878
10:78651429 KCNMA1 C>T	10	78651429	78651429	C	T	KCNMA1	c.3196G>A	NM_001161352.2	NP_001154824.1:p.(Gly1066Arg)	NC_000010.10:g.78651429C>T	VUS	1 lab	8838c0f30d
13:32911137 BRCA2 T>A	13	32911137	32911137	T	A	BRCA2	c.2645T>A	NM_000059.3	NP_000050.2:p.(Leu882His)	NC_000013.10:g.32911137T>A	(Likely) benign	1 lab	88391fd71a
19:6702215 C3 G>A	19	6702215	6702215	G	A	C3	c.2363C>T	NM_000064.3	NP_000055.2:p.(Thr788Met)	NC_000019.9:g.6702215G>A	VUS	1 lab	8839d5e470
1:215901702 USH2A C>T	1	215901702	215901702	C	T	USH2A	c.11736G>A	NM_206933.2	NP_996816.2:p.(Glu3912=)	NC_000001.10:g.215901702C>T	(Likely) benign	1 lab	883a4e6e31
X:49068442 CACNA1F C>A	X	49068442	49068442	C	A	CACNA1F	c.4016G>T	NM_001256789.3	NP_001243718.1:p.(Gly1339Val)	NC_000023.10:g.49068442C>A	VUS	1 lab	883bbbae57
10:124214448 ARMS2 G>T	10	124214448	124214448	G	T	ARMS2	c.205G>T	NM_001099667.3	NP_001093137.1:p.(Ala69Ser)	NC_000010.10:g.124214448G>T	(Likely) benign	1 lab	883be807fc
2:220291129 DES G>A	2	220291129	220291129	G	A	DES	c.*417G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220291129G>A	(Likely) benign	1 lab	883cc517ca
18:19359521 MIB1 A>G	18	19359521	19359521	A	G	MIB1	c.783A>G	NM_020774.2	NP_065825.1:p.(Val261=)	NC_000018.9:g.19359521A>G	(Likely) benign	1 lab	883ea3cfab
17:56772546 RAD51C T>C	17	56772546	56772546	T	C	RAD51C	c.400T>C	NM_058216.3	NP_478123.1:p.(Leu134=)	NC_000017.10:g.56772546T>C	(Likely) benign	1 lab	88422954c9
19:50905988 POLD1 C>T	19	50905988	50905988	C	T	POLD1	c.960C>T	NM_002691.4	NP_002682.2:p.(Ala320=)	NC_000019.9:g.50905988C>T	(Likely) benign	1 lab	884a3a1994
2:228104896 COL4A3 G>GC	2	228104896	228104898	G	GC	COL4A3	c.184dup	NM_000091.4	NP_000082.2:p.(Gln62ProfsTer8)	NC_000002.11:g.228104898dup	(Likely) pathogenic	1 lab	884e4e7758
13:32906919 BRCA2 G>A	13	32906919	32906919	G	A	BRCA2	c.1304G>A	NM_000059.3	NP_000050.2:p.(Arg435Lys)	NC_000013.10:g.32906919G>A	(Likely) benign	1 lab	884e6a645c
1:152276671 FLG C>T	1	152276671	152276671	C	T	FLG	c.10691G>A	NM_002016.1	NP_002007.1:p.(Arg3564His)	NC_000001.10:g.152276671C>T	(Likely) benign	1 lab	884ebf8aa1
11:108122614 ATM GA>G	11	108122614	108122616	GA	G	ATM	c.1660del	NM_000051.4	NP_000042.3:p.(Thr554ArgfsTer2)	NC_000011.9:g.108122616del	(Likely) pathogenic	1 lab	0630079de4
2:218712871 TNS1 C>T	2	218712871	218712871	C	T	TNS1	c.2369G>A	NM_001387777.1	NP_001374706.1:p.(Arg790His)	NC_000002.11:g.218712871C>T	VUS	1 lab	8854ee8f06
16:774692 CCDC78 A>G	16	774692	774692	A	G	CCDC78	c.754T>C	NM_001031737.3	NP_001026907.2:p.(Trp252Arg)	NC_000016.9:g.774692A>G	(Likely) benign	1 lab	0630d74bbc
11:76868037 MYO7A G>A	11	76868037	76868037	G	A	MYO7A	c.722G>A	NM_000260.3	NP_000251.3:p.(Arg241His)	NC_000011.9:g.76868037G>A	(Likely) pathogenic	1 lab	885e5b541c
3:38941603 SCN11A G>A	3	38941603	38941603	G	A	SCN11A	c.1843-39C>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38941603G>A	(Likely) benign	1 lab	88648ee69c
2:215661827 BARD1 C>T	2	215661827	215661827	C	T	BARD1	c.173G>A	NM_000465.4	NP_000456.2:p.(Arg58Lys)	NC_000002.11:g.215661827C>T	VUS	1 lab	88665ffe02
X:122820519 THOC2 T>C	X	122820519	122820519	T	C	THOC2	c.647A>G	NM_001081550.1	NP_001075019.1:p.(Glu216Gly)	NC_000023.10:g.122820519T>C	(Likely) benign	1 lab	8866b9c4ae
7:73474271 ELN T>A	7	73474271	73474271	T	A	ELN	c.1470T>A	NM_000501.3	NP_000492.2:p.(Gly490=)	NC_000007.13:g.73474271T>A	(Likely) benign	1 lab	886ee1a06c
17:40481660 STAT3 C>T	17	40481660	40481660	C	T	STAT3	c.1145G>A	NM_139276.2	NP_644805.1:p.(Arg382Gln)	NC_000017.10:g.40481660C>T	(Likely) pathogenic	1 lab	887340f726
12:66856782 GRIP1 C>T	12	66856782	66856782	C	T	GRIP1	c.964G>A	NM_021150.4	NP_066973.2:p.(Ala322Thr)	NC_000012.11:g.66856782C>T	(Likely) benign	1 lab	0d3798eb63
11:117262867 CEP164 A>G	11	117262867	117262867	A	G	CEP164	c.2284-75A>G	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117262867A>G	(Likely) benign	1 lab	0d38578687
15:59510203 MYO1E A>C	15	59510203	59510203	A	C	MYO1E	c.994T>G	NM_004998.3	NP_004989.2:p.(Trp332Gly)	NC_000015.9:g.59510203A>C	VUS	1 lab	887598899d
20:52611603 BCAS1 G>A	20	52611603	52611603	G	A	BCAS1	c.883-8C>T	NM_001366298.2	NP_001353227.1:p.?	NC_000020.10:g.52611603G>A	VUS	1 lab	14d3e04d8e
2:179398476 TTN A>G	2	179398476	179398476	A	G	TTN	c.102866T>C	NM_001267550.2	NP_001254479.2:p.(Val34289Ala)	NC_000002.11:g.179398476A>G	VUS	1 lab	8879047ae7
X:41495830 CASK C>T	X	41495830	41495830	C	T	CASK	c.915+1G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41495830C>T	(Likely) pathogenic	1 lab	887d00f62a
4:5754544 EVC T>C	4	5754544	5754544	T	C	EVC	c.1099-19T>C	NM_153717.2	NP_714928.1:p.?	NC_000004.11:g.5754544T>C	(Likely) benign	1 lab	887ebbfd54
9:129377710 LMX1B T>C	9	129377710	129377710	T	C	LMX1B	c.188T>C	NM_002316.3	NP_002307.2:p.(Ile63Thr)	NC_000009.11:g.129377710T>C	VUS	1 lab	887ef4053a
2:242707329 D2HGDH T>C	2	242707329	242707329	T	C	D2HGDH	c.1511T>C	NM_152783.5	NP_689996.4:p.(Leu504Pro)	NC_000002.11:g.242707329T>C	VUS	1 lab	888140d5e1
4:114170977 ANK2 C>T	4	114170977	114170977	C	T	ANK2	c.949C>T	NM_001148.6	NP_001139.3:p.(Leu317Phe)	NC_000004.11:g.114170977C>T	VUS	1 lab	88836a618a
6:32006196 CYP21A2 C>T	6	32006196	32006196	C	T	CYP21A2				NC_000006.11:g.32006196C>T	(Likely) benign	1 lab	88847ea794
7:44178491 MYL7 G>GC	7	44178491	44178492	G	GC	MYL7	c.*28_*29insG	NM_021223.2	NP_067046.1:p.?	NC_000007.13:g.44178491_44178492insC	(Likely) benign	1 lab	88850920d0
4:110682783 CFI T>C	4	110682783	110682783	T	C	CFI	c.548A>G	NM_000204.5	NP_000195.3:p.(His183Arg)	NC_000004.11:g.110682783T>C	(Likely) benign	1 lab	8885775bdf
19:16601254 CALR3 C>T	19	16601254	16601254	C	T	CALR3	c.321G>A	NM_145046.4	NP_659483.2:p.(Gly107=)	NC_000019.9:g.16601254C>T	(Likely) benign	1 lab	8885d82528
8:61735157 CHD7 C>G	8	61735157	61735157	C	G	CHD7	c.3053C>G	NM_017780.3	NP_060250.2:p.(Pro1018Arg)	NC_000008.10:g.61735157C>G	(Likely) pathogenic	1 lab	88860cf5aa
X:54497112 FGD1 A>T	X	54497112	54497112	A	T	FGD1	c.563T>A	NM_004463.3	NP_004454.2:p.(Leu188Gln)	NC_000023.10:g.54497112A>T	VUS	1 lab	0d38c31d66
19:50810385 MYH14 C>T	19	50810385	50810385	C	T	MYH14	c.5758C>T	NM_001145809.2	NP_001139281.1:p.(Arg1920Trp)	NC_000019.9:g.50810385C>T	VUS	1 lab	8887f29123
2:179434608 TTN T>C	2	179434608	179434608	T	C	TTN	c.76251A>G	NM_001267550.2	NP_001254479.2:p.(Ile25417Met)	NC_000002.11:g.179434608T>C	(Likely) benign	1 lab	888df197e4
4:187117229 CYP4V2 G>T	4	187117229	187117229	G	T	CYP4V2	c.400G>T	NM_207352.4	NP_997235.3:p.(Gly134Ter)	NC_000004.11:g.187117229G>T	(Likely) pathogenic	1 lab	88948a0db1
12:52200499 SCN8A C>A	12	52200499	52200499	C	A	SCN8A	c.5229C>A	NM_014191.3	NP_055006.1:p.(Ile1743=)	NC_000012.11:g.52200499C>A	(Likely) benign	1 lab	8894d5d065
16:773291 CCDC78 GC>G	16	773291	773299	GC	G	CCDC78	c.1134-131del	NM_001031737.3	NP_001026907.2:p.?	NC_000016.9:g.773299del	(Likely) benign	1 lab	063116dfad
X:73962509 NEXMIF C>A	X	73962509	73962509	C	A	NEXMIF	c.1883G>T	NM_001008537.2	NP_001008537.1:p.(Arg628Leu)	NC_000023.10:g.73962509C>A	(Likely) benign	1 lab	8895d698d3
3:52437432 BAP1 C>T	3	52437432	52437432	C	T	BAP1	c.1729G>A	NM_004656.3	NP_004647.1:p.(Glu577Lys)	NC_000003.11:g.52437432C>T	(Likely) pathogenic	1 lab	88967819ca
17:63554521 AXIN2 G>C	17	63554521	63554521	G	C	AXIN2	c.218C>G	NM_004655.4	NP_004646.3:p.(Ser73Cys)	NC_000017.10:g.63554521G>C	VUS	1 lab	889af8b43f
2:168105063 XIRP2 G>A	2	168105063	168105063	G	A	XIRP2	c.7161G>A	NM_152381.5	NP_689594.4:p.(Lys2387=)	NC_000002.11:g.168105063G>A	(Likely) benign	1 lab	889e199cf1
2:26696867 OTOF G>A	2	26696867	26696867	G	A	OTOF	c.3400C>T	NM_194248.2	NP_919224.1:p.(Arg1134Ter)	NC_000002.11:g.26696867G>A	(Likely) pathogenic	1 lab	889ea8d0b5
6:46048000 CLIC5 T>C	6	46048000	46048000	T	C	CLIC5	c.-21A>G	NM_001114086.1	NP_001107558.1:p.?	NC_000006.11:g.46048000T>C	(Likely) benign	1 lab	889eef577a
17:72308221 DNAI2 C>T	17	72308221	72308221	C	T	DNAI2	c.1574C>T	NM_023036.6	NP_075462.3:p.(Ala525Val)	NC_000017.10:g.72308221C>T	(Likely) benign	1 lab	063372976e
8:30921970 WRN A>T	8	30921970	30921970	A	T	WRN	c.355+20A>T	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.30921970A>T	(Likely) benign	1 lab	889f5dbc39
15:90176401 KIF7 C>T	15	90176401	90176401	C	T	KIF7	c.2689G>A	NM_198525.2	NP_940927.2:p.(Gly897Ser)	NC_000015.9:g.90176401C>T	VUS	1 lab	88a045b525
X:64737988 LAS1L CTCTTCATCA>C	X	64737988	64738014	CTCTTCATCA	C	LAS1L	c.1797_1805del	NM_031206.7	NP_112483.1:p.(Asp599_Glu601del)	NC_000023.10:g.64738006_64738014del	(Likely) benign	1 lab	06338e4e88
20:5294808 PROKR2 C>T	20	5294808	5294808	C	T	PROKR2	c.208G>A	NM_144773.2	NP_658986.1:p.(Gly70Ser)	NC_000020.10:g.5294808C>T	VUS	1 lab	88a50426b2
6:51524480 PKHD1 G>A	6	51524480	51524480	G	A	PKHD1	c.10444C>T	NM_138694.3	NP_619639.3:p.(Arg3482Cys)	NC_000006.11:g.51524480G>A	VUS	1 lab	88a7e10a60
8:61735305 CHD7 G>A	8	61735305	61735305	G	A	CHD7				NC_000008.10:g.61735305G>A	(Likely) pathogenic	1 lab	956341c4a3
X:48933340 WDR45 A>G	X	48933340	48933340	A	G	WDR45	c.592T>C	NM_007075.3	NP_009006.2:p.(Cys198Arg)	NC_000023.10:g.48933340A>G	(Likely) benign	1 lab	88af448736
X:139586872 SOX3 G>GT	X	139586872	139586874	G	GT	SOX3				NC_000023.10:g.139586874dup	(Likely) pathogenic	1 lab	88b4c5df4a
X:153131180 L1CAM C>A	X	153131180	153131180	C	A	L1CAM	c.2526G>T	NM_001278116.2	NP_001265045.1:p.(Lys842Asn)	NC_000023.10:g.153131180C>A	VUS	1 lab	063731914d
2:165946925 SCN3A C>T	2	165946925	165946925	C	T	SCN3A	c.5738G>A	NM_006922.4	NP_008853.3:p.(Cys1913Tyr)	NC_000002.11:g.165946925C>T	(Likely) benign	1 lab	88ba2fea6e
1:113460537 SLC16A1 A>AG	1	113460537	113460543	A	AG	SLC16A1	c.490dup	NM_003051.3	NP_003042.3:p.(Leu164ProfsTer46)	NC_000001.10:g.113460543dup	(Likely) pathogenic	1 lab	88bc1aa162
5:112164585 APC G>A	5	112164585	112164585	G	A	APC	c.1659G>A	NM_000038.6	NP_000029.2:p.(Trp553Ter)	NC_000005.9:g.112164585G>A	(Likely) pathogenic	1 lab	88bfc3c088
9:71836128 TJP2 G>A	9	71836128	71836128	G	A	TJP2	c.668G>A	NM_004817.4	NP_004808.2:p.(Arg223Gln)	NC_000009.11:g.71836128G>A	VUS	1 lab	063c30325c
X:46713281 RP2 A>G	X	46713281	46713281	A	G	RP2	c.473A>G	NM_006915.2	NP_008846.2:p.(Gln158Arg)	NC_000023.10:g.46713281A>G	VUS	1 lab	88c4b29f8f
2:198353797 HSPD1 T>C	2	198353797	198353797	T	C	HSPD1	c.1144A>G	NM_002156.5	NP_002147.2:p.(Thr382Ala)	NC_000002.11:g.198353797T>C	VUS	1 lab	063c3874e1
X:153047073 SRPK3 G>C	X	153047073	153047073	G	C	SRPK3	c.299+5G>C	NM_014370.3	NP_055185.2:p.?	NC_000023.10:g.153047073G>C	VUS	1 lab	88c69a0f90
1:241675444 FH C>T	1	241675444	241675444	C	T	FH	c.379-1G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241675444C>T	(Likely) pathogenic	1 lab	88c882c503
9:139397589 NOTCH1 AC>A	9	139397589	139397594	AC	A	NOTCH1	c.5167+44del	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139397594del	(Likely) benign	1 lab	88c921c9d9
11:62678177 CHRM1 G>T	11	62678177	62678177	G	T	CHRM1	c.396C>A	NM_000738.3	NP_000729.2:p.(Ser132Arg)	NC_000011.9:g.62678177G>T	VUS	1 lab	063c7dca12
13:32905185 BRCA2 T>C	13	32905185	32905185	T	C	BRCA2	c.793+18T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905185T>C	(Likely) benign	1 lab	88ce4b0890
11:108151898 ATM A>G	11	108151898	108151898	A	G	ATM	c.3576+3A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108151898A>G	VUS	1 lab	88cec2117d
1:228494593 OBSCN C>T	1	228494593	228494593	C	T	OBSCN	c.14798-9C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228494593C>T	(Likely) benign	1 lab	88cecbbb76
11:45935427 PEX16 C>T	11	45935427	45935427	C	T	PEX16	c.830G>A	NM_057174.2	NP_476515.1:p.(Arg277Gln)	NC_000011.9:g.45935427C>T	VUS	1 lab	88d309de70
22:19711715 GP1BB C>G	22	19711715	19711715	C	G	GP1BB	c.349C>G	NM_000407.4	NP_000398.1:p.(Arg117Gly)	NC_000022.10:g.19711715C>G	VUS	1 lab	88d49761e0
2:179474895 TTN G>A	2	179474895	179474895	G	A	TTN	c.51358C>T	NM_001267550.2	NP_001254479.2:p.(Arg17120Cys)	NC_000002.11:g.179474895G>A	VUS	1 lab	88d62b8c89
X:8504810 ANOS1 A>G	X	8504810	8504810	A	G	ANOS1	c.1621+2T>C	NM_000216.2	NP_000207.2:p.?	NC_000023.10:g.8504810A>G	(Likely) pathogenic	1 lab	88d6b7725b
22:19754267 TBX1 C>T	22	19754267	19754267	C	T	TBX1	c.1365C>T	NM_080647.1	NP_542378.1:p.(His455=)	NC_000022.10:g.19754267C>T	(Likely) benign	1 lab	88d9c16b15
16:56920388 SLC12A3 G>A	16	56920388	56920388	G	A	SLC12A3				NC_000016.9:g.56920388G>A	(Likely) pathogenic	1 lab	88daf4e419
17:36896613 PCGF2 G>A	17	36896613	36896613	G	A	PCGF2	c.43C>T	NM_007144.3	NP_009075.1:p.(His15Tyr)	NC_000017.10:g.36896613G>A	VUS	1 lab	0644ee02cf
2:202591577 ALS2 G>A	2	202591577	202591577	G	A	ALS2				NC_000002.11:g.202591577G>A	(Likely) pathogenic	1 lab	88e1873f9d
11:76890971 MYO7A G>A	11	76890971	76890971	G	A	MYO7A	c.2558G>A	NM_000260.4	NP_000251.3:p.(Arg853His)	NC_000011.9:g.76890971G>A	(Likely) pathogenic	1 lab	88e4baa06e
2:207945969 KLF7 G>T	2	207945969	207945969	G	T	KLF7	c.877C>A	NM_003709.3	NP_003700.1:p.(His293Asn)	NC_000002.11:g.207945969G>T	VUS	1 lab	88e65fa614
3:15512110 COLQ G>C	3	15512110	15512110	G	C	COLQ	c.650C>G	NM_005677.4	NP_005668.2:p.(Pro217Arg)	NC_000003.11:g.15512110G>C	VUS	1 lab	88e6e04f19
2:167330770 SCN7A T>C	2	167330770	167330770	T	C	SCN7A	c.319A>G	NM_002976.3	NP_002967.2:p.(Ile107Val)	NC_000002.11:g.167330770T>C	(Likely) benign	1 lab	88ea5ba1d1
20:62045469 KCNQ2 C>T	20	62045469	62045469	C	T	KCNQ2	c.1603G>A	NM_172107.3	NP_742105.1:p.(Gly535Ser)	NC_000020.10:g.62045469C>T	(Likely) pathogenic	1 lab	88f018c78b
12:32945417 PKP2 T>G	12	32945417	32945417	T	G	PKP2	c.2587A>C	NM_004572.3	NP_004563.2:p.(Lys863Gln)	NC_000012.11:g.32945417T>G	VUS	1 lab	0d3b53c5a3
15:38643493 SPRED1 G>A	15	38643493	38643493	G	A	SPRED1	c.963G>A	NM_152594.2	NP_689807.1:p.(Lys321=)	NC_000015.9:g.38643493G>A	(Likely) benign	1 lab	88f1eb9671
7:140549893 BRAF T>C	7	140549893	140549893	T	C	BRAF	c.240+18A>G	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140549893T>C	(Likely) benign	1 lab	0d3cf2b567
1:986443 AGRN C>T	1	986443	986443	C	T	AGRN	c.5254-190C>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.986443C>T	(Likely) benign	1 lab	06499ab7ad
17:68172154 KCNJ2 G>A	17	68172154	68172154	G	A	KCNJ2	c.974G>A	NM_000891.3	NP_000882.1:p.(Arg325His)	NC_000017.10:g.68172154G>A	VUS	1 lab	88f5f209da
2:163144644 IFIH1 C>T	2	163144644	163144644	C	T	IFIH1	c.1095+1G>A	NM_022168.4	NP_071451.2:p.?	NC_000002.11:g.163144644C>T	VUS	1 lab	064e03bc4a
19:19431685 MAU2 CGGCAGCGGCCCA>C	19	19431685	19431700	CGGCAGCGGCCCA	C	MAU2	c.21_32del	NM_015329.4	NP_056144.3:p.(Gln10_Ala13del)	NC_000019.9:g.19431689_19431700del	(Likely) benign	1 lab	064f3fc8bc
11:2683253 KCNQ1 G>A	11	2683253	2683253	G	A	KCNQ1	c.1456G>A	NM_000218.3	NP_000209.2:p.(Ala486Thr)	NC_000011.9:g.2683253G>A	(Likely) benign	1 lab	88f6d87ead
3:184095863 THPO C>A	3	184095863	184095863	C	A	THPO	c.275G>T	NM_001290003.1	NP_001276932.1:p.(Arg92Leu)	NC_000003.11:g.184095863C>A	VUS	1 lab	88f8de0524
2:216298058 FN1 C>T	2	216298058	216298058	C	T	FN1	c.404G>A	NM_212482.2	NP_997647.1:p.(Cys135Tyr)	NC_000002.11:g.216298058C>T	VUS	1 lab	88fb5a6458
14:77984509 SPTLC2 C>T	14	77984509	77984509	C	T	SPTLC2	c.1441G>A	NM_004863.4	NP_004854.1:p.(Ala481Thr)	NC_000014.8:g.77984509C>T	VUS	1 lab	0651fb4aff
7:128484204 FLNC G>A	7	128484204	128484204	G	A	FLNC	c.3076G>A	NM_001458.4	NP_001449.3:p.(Val1026Met)	NC_000007.13:g.128484204G>A	VUS	1 lab	8904a533c4
2:69650730 NFU1 G>A	2	69650730	69650730	G	A	NFU1	c.286C>T	NM_001002755.2	NP_001002755.1:p.(Arg96Cys)	NC_000002.11:g.69650730G>A	(Likely) benign	1 lab	8905434918
X:153008483 ABCD1 G>A	X	153008483	153008483	G	A	ABCD1	c.1823G>A	NM_000033.4	NP_000024.2:p.(Gly608Asp)	NC_000023.10:g.153008483G>A	(Likely) benign	1 lab	065337710d
2:47614013 EPCAM G>C	2	47614013	47614013	G	C	EPCAM	c.*261G>C	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47614013G>C	(Likely) benign	1 lab	890b3ad166
16:56933468 SLC12A3 G>A	16	56933468	56933468	G	A	SLC12A3	c.2687G>A	NM_000339.3	NP_000330.3:p.(Arg896Gln)	NC_000016.9:g.56933468G>A	(Likely) pathogenic	1 lab	8911501707
2:24533338 ITSN2 T>A	2	24533338	24533338	T	A	ITSN2	c.556+20A>T	NM_147152.3	NP_671494.2:p.?	NC_000002.11:g.24533338T>A	(Likely) benign	1 lab	0d3d4ddffb
18:29125961 DSG2 G>T	18	29125961	29125961	G	T	DSG2	c.2612G>T	NM_001943.4	NP_001934.2:p.(Cys871Phe)	NC_000018.9:g.29125961G>T	(Likely) benign	1 lab	8914096d61
5:138264924 CTNNA1 C>T	5	138264924	138264924	C	T	CTNNA1	c.1900-11C>T	NM_001903.3	NP_001894.2:p.?	NC_000005.9:g.138264924C>T	(Likely) benign	1 lab	8914b13a68
16:88801317 PIEZO1 A>G	16	88801317	88801317	A	G	PIEZO1	c.1814T>C	NM_001142864.4	NP_001136336.2:p.(Met605Thr)	NC_000016.9:g.88801317A>G	VUS	1 lab	891522b1cb
16:21768530 OTOA C>T	16	21768530	21768530	C	T	OTOA	c.3281C>T	NM_144672.3	NP_653273.3:p.(Thr1094Ile)	NC_000016.9:g.21768530C>T	(Likely) benign	1 lab	891582df92
1:207924906 CD46 G>A	1	207924906	207924906	G	A	CD46				NC_000001.10:g.207924906G>A	(Likely) pathogenic	1 lab	891b66504f
X:66766356 AR TGGCGGC>T	X	66766356	66766408	TGGCGGC	T	AR	c.1415_1420del	NM_000044.6	NP_000035.2:p.(Gly472_Gly473del)	NC_000023.10:g.66766403_66766408del	(Likely) benign	1 lab	065475c59b
2:26699786 OTOF G>A	2	26699786	26699786	G	A	OTOF	c.2649C>T	NM_194248.2	NP_919224.1:p.(Cys883=)	NC_000002.11:g.26699786G>A	(Likely) pathogenic	1 lab	892c06c102
3:14166739 TMEM43 G>C	3	14166739	14166739	G	C	TMEM43	c.12+34G>C	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14166739G>C	(Likely) benign	1 lab	892c4b9fe2
16:9858403 GRIN2A C>T	16	9858403	9858403	C	T	GRIN2A	c.2998G>A	NM_000833.4	NP_000824.1:p.(Val1000Met)	NC_000016.9:g.9858403C>T	VUS	1 lab	892cdddc37
16:23649157 PALB2 T>C	16	23649157	23649157	T	C	PALB2	c.211+14A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649157T>C	(Likely) benign	1 lab	892d92e6a7
5:94842713 SKIC3 GCCCTT>G	5	94842713	94842718	GCCCTT	G	SKIC3	c.3015-3_3016del	NM_014639.4	NP_055454.1:p.?	NC_000005.9:g.94842714_94842718del	(Likely) benign	1 lab	0655b76a24
7:6012969 PMS2 C>A	7	6012969	6012969	C	A	PMS2	c.*61G>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6012969C>A	(Likely) benign	1 lab	892faf061f
2:47703500 MSH2 T>A	2	47703500	47703500	T	A	MSH2	c.2006-6T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703500T>A	(Likely) benign	1 lab	073f693f46
7:107330648 SLC26A4 C>T	7	107330648	107330648	C	T	SLC26A4	c.1229C>T	NM_000441.1	NP_000432.1:p.(Thr410Met)	NC_000007.13:g.107330648C>T	(Likely) pathogenic	1 lab	8931b12086
19:12975918 MAST1 G>C	19	12975918	12975918	G	C	MAST1	c.1564G>C	NM_014975.3	NP_055790.1:p.(Gly522Arg)	NC_000019.9:g.12975918G>C	(Likely) pathogenic	1 lab	8932846da1
6:32008924 CYP21A2 G>A	6	32008924	32008924	G	A	CYP21A2	c.*13G>A	NM_000500.9	NP_000491.4:p.?	NC_000006.11:g.32008924G>A	(Likely) benign	1 lab	0659d64e78
5:172660294 NKX2-5 G>C	5	172660294	172660294	G	C	NKX2-5	c.335-82C>G	NM_004387.3	NP_004378.1:p.?	NC_000005.9:g.172660294G>C	(Likely) benign	1 lab	89364a568e
X:47774643 ZNF81 A>C	X	47774643	47774643	A	C	ZNF81				NC_000023.10:g.47774643A>C	VUS	1 lab	893900403c
2:179396107 TTN CA>C	2	179396107	179396108	CA	C	TTN	c.105234del	NM_001267550.2	NP_001254479.2:p.(Val35079SerfsTer4)	NC_000002.11:g.179396108del	(Likely) pathogenic	1 lab	065de9ebde
9:109688716 ZNF462 G>C	9	109688716	109688716	G	C	ZNF462	c.2523G>C	NM_021224.6	NP_067047.4:p.(Arg841Ser)	NC_000009.11:g.109688716G>C	VUS	1 lab	065e02c7b1
2:47702296 MSH2 GA>G	2	47702296	47702298	GA	G	MSH2	c.1894del	NM_000251.3	NP_000242.1:p.(Ile632LeufsTer3)	NC_000002.11:g.47702298del	(Likely) pathogenic	1 lab	8942fa9ba8
5:112137030 APC G>T	5	112137030	112137030	G	T	APC	c.784G>T	NM_000038.5	NP_000029.2:p.(Glu262Ter)	NC_000005.9:g.112137030G>T	(Likely) pathogenic	1 lab	8943569c88
3:128623296 ACAD9 T>C	3	128623296	128623296	T	C	ACAD9	c.1097T>C	NM_014049.4	NP_054768.2:p.(Met366Thr)	NC_000003.11:g.128623296T>C	VUS	1 lab	8944427f92
12:121174897 ACADS C>T	12	121174897	121174897	C	T	ACADS	c.319C>T	NM_000017.3	NP_000008.1:p.(Arg107Cys)	NC_000012.11:g.121174897C>T	(Likely) pathogenic	1 lab	894aad3621
2:167262413 SCN7A C>T	2	167262413	167262413	C	T	SCN7A	c.4726G>A	NM_002976.4	NP_002967.2:p.(Asp1576Asn)	NC_000002.11:g.167262413C>T	VUS	1 lab	894c724ea1
2:179438512 TTN T>C	2	179438512	179438512	T	C	TTN	c.72347A>G	NM_001267550.2	NP_001254479.2:p.(Asn24116Ser)	NC_000002.11:g.179438512T>C	VUS	1 lab	894e621f4f
19:4123840 MAP2K2 C>T	19	4123840	4123840	C	T	MAP2K2	c.33G>A	NM_030662.4	NP_109587.1:p.(Ala11=)	NC_000019.9:g.4123840C>T	(Likely) benign	1 lab	065eb14693
5:142783087 NR3C1 A>C	5	142783087	142783087	A	C	NR3C1	c.-325T>G	NM_000176.3	NP_000167.1:p.?	NC_000005.9:g.142783087A>C	(Likely) benign	1 lab	89515965f2
7:91631974 AKAP9 T>A	7	91631974	91631974	T	A	AKAP9	c.2743T>A	NM_005751.5	NP_005742.4:p.(Ser915Thr)	NC_000007.13:g.91631974T>A	(Likely) benign	1 lab	89517e4d0f
15:48776016 FBN1 T>C	15	48776016	48776016	T	C	FBN1	c.3837A>G	NM_000138.4	NP_000129.3:p.(Val1279=)	NC_000015.9:g.48776016T>C	(Likely) benign	1 lab	89520d6940
X:32662434 DMD A>T	X	32662434	32662434	A	T	DMD	c.1150-4T>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32662434A>T	(Likely) benign	1 lab	89543c1403
2:228012201 COL4A4 G>A	2	228012201	228012201	G	A	COL4A4	c.-2C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228012201G>A	(Likely) benign	1 lab	8955fcdecb
7:73471978 ELN A>G	7	73471978	73471978	A	G	ELN	c.1453A>G	NM_001278939.1	NP_001265868.1:p.(Thr485Ala)	NC_000007.13:g.73471978A>G	VUS	1 lab	0d5038b937
17:60023829 MED13 T>C	17	60023829	60023829	T	C	MED13	c.6525A>G	NM_005121.3	NP_005112.2:p.(Ter2175TrpextTer29)	NC_000017.10:g.60023829T>C	VUS	1 lab	895913323c
10:96076495 PLCE1 C>G	10	96076495	96076495	C	G	PLCE1				NC_000010.10:g.96076495C>G	(Likely) benign	1 lab	974247ab85
X:139586530 SOX3 G>T	X	139586530	139586530	G	T	SOX3	c.696C>A	NM_005634.2	NP_005625.2:p.(Pro232=)	NC_000023.10:g.139586530G>T	VUS	1 lab	8959bd43cd
2:179449687 TTN C>G	2	179449687	179449687	C	G	TTN	c.64681G>C	NM_001267550.2	NP_001254479.2:p.(Gly21561Arg)	NC_000002.11:g.179449687C>G	VUS	1 lab	8959dc3fde
8:17188773 VPS37A G>A	8	17188773	17188773	G	A	VPS37A	c.*995G>A	NM_001363172.2	NP_001350101.1:p.?	NC_000008.10:g.17188773G>A	VUS	1 lab	065f7edd1b
4:110667431 CFI T>G	4	110667431	110667431	T	G	CFI	c.1376A>C	NM_000204.5	NP_000195.3:p.(Tyr459Ser)	NC_000004.11:g.110667431T>G	(Likely) pathogenic	1 lab	8977d2640e
16:88793220 PIEZO1 G>A	16	88793220	88793220	G	A	PIEZO1	c.3602C>T	NM_001142864.4	NP_001136336.2:p.(Thr1201Met)	NC_000016.9:g.88793220G>A	VUS	1 lab	06624e62b3
1:236899008 ACTN2 G>A	1	236899008	236899008	G	A	ACTN2	c.771G>A	NM_001103.3	NP_001094.1:p.(Ala257=)	NC_000001.10:g.236899008G>A	(Likely) benign	1 lab	895f48cd97
X:153219137 HCFC1 G>A	X	153219137	153219137	G	A	HCFC1	c.4418C>T	NM_005334.3	NP_005325.2:p.(Thr1473Met)	NC_000023.10:g.153219137G>A	VUS	1 lab	895fee27f9
9:129377827 LMX1B A>G	9	129377827	129377827	A	G	LMX1B	c.305A>G	NM_002316.4	NP_002307.2:p.(Tyr102Cys)	NC_000009.11:g.129377827A>G	VUS	1 lab	8961ea7c22
X:70149814 SLC7A3 T>A	X	70149814	70149814	T	A	SLC7A3				NC_000023.10:g.70149814T>A	VUS	1 lab	8962e9663c
16:23646410 PALB2 T>G	16	23646410	23646410	T	G	PALB2	c.1457A>C	NM_024675.3	NP_078951.2:p.(Lys486Thr)	NC_000016.9:g.23646410T>G	(Likely) benign	1 lab	8964289108
10:69934412 MYPN A>C	10	69934412	69934412	A	C	MYPN	c.2563A>C	NM_001256267.1	NP_001243196.1:p.(Met855Leu)	NC_000010.10:g.69934412A>C	(Likely) benign	1 lab	89673a11f8
15:52725470 MYO5A A>C	15	52725470	52725470	A	C	MYO5A	c.40T>G	NM_000259.3	NP_000250.3:p.(Trp14Gly)	NC_000015.9:g.52725470A>C	VUS	1 lab	8969dc4dd7
2:158656000 ACVR1 T>C	2	158656000	158656000	T	C	ACVR1	c.6A>G	NM_001347664.1	NP_001334593.1:p.(Val2=)	NC_000002.11:g.158656000T>C	(Likely) benign	1 lab	896a9c69f1
10:27024262 PDSS1 TTTA>T	10	27024262	27024267	TTTA	T	PDSS1	c.912+16_912+18del	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27024265_27024267del	(Likely) benign	1 lab	0d50a5ca50
4:113570721 LARP7 T>A	4	113570721	113570721	T	A	LARP7	c.1173T>A	NM_016648.3	NP_057732.2:p.(Tyr391Ter)	NC_000004.11:g.113570721T>A	(Likely) pathogenic	1 lab	896fd31eac
17:41203325 BRCA1 T>A	17	41203325	41203325	T	A	BRCA1	c.5278-191A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203325T>A	(Likely) benign	1 lab	0d541150d6
2:179442873 TTN C>T	2	179442873	179442873	C	T	TTN	c.68369G>A	NM_001267550.2	NP_001254479.2:p.(Trp22790Ter)	NC_000002.11:g.179442873C>T	(Likely) pathogenic	1 lab	8972e5be1f
19:11145804 SMARCA4 T>C	19	11145804	11145804	T	C	SMARCA4	c.4166T>C	NM_003072.5	NP_003063.2:p.(Leu1389Pro)	NC_000019.9:g.11145804T>C	VUS	1 lab	897994092b
15:83335623 AP3B2 G>A	15	83335623	83335623	G	A	AP3B2	c.1728C>T	NM_001278512.2	NP_001265441.1:p.(Arg576=)	NC_000015.9:g.83335623G>A	(Likely) benign	1 lab	0d553eb0c3
6:138199887 TNFAIP3 CG>C	6	138199887	138199891	CG	C	TNFAIP3	c.1309del	NM_001270507.1	NP_001257436.1:p.(Ala437ProfsTer40)	NC_000006.11:g.138199891del	(Likely) pathogenic	1 lab	8979e9f029
16:31004504 STX1B G>A	16	31004504	31004504	G	A	STX1B	c.733C>T	NM_052874.5	NP_443106.1:p.(Arg245Ter)	NC_000016.9:g.31004504G>A	(Likely) pathogenic	1 lab	897bc9ea35
13:32973748 BRCA2 A>G	13	32973748	32973748	A	G	BRCA2	c.*841A>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32973748A>G	(Likely) benign	1 lab	897fbfbd75
17:41223196 BRCA1 G>C	17	41223196	41223196	G	C	BRCA1	c.4735C>G	NM_007294.3	NP_009225.1:p.(Pro1579Ala)	NC_000017.10:g.41223196G>C	(Likely) benign	1 lab	8983850c85
2:166915161 SCN1A C>A	2	166915161	166915161	C	A	SCN1A	c.302G>T	NM_001165963.1	NP_001159435.1:p.(Arg101Leu)	NC_000002.11:g.166915161C>A	VUS	1 lab	8984d89979
6:161807875 PRKN T>G	6	161807875	161807875	T	G	PRKN	c.1118A>C	NM_004562.3	NP_004553.2:p.(His373Pro)	NC_000006.11:g.161807875T>G	(Likely) benign	1 lab	066dcd65ed
1:8021778 PARK7 T>C	1	8021778	8021778	T	C	PARK7	c.-41T>C	NM_001123377.1	NP_001116849.1:p.?	NC_000001.10:g.8021778T>C	(Likely) benign	1 lab	898f78ee16
12:108958154 ISCU G>A	12	108958154	108958154	G	A	ISCU	c.214G>A	NM_213595.3	NP_998760.1:p.(Val72Ile)	NC_000012.11:g.108958154G>A	VUS	1 lab	8994d358da
16:2144176 PKD1 G>A	16	2144176	2144176	G	A	PKD1	c.10535C>T	NM_001009944.2	NP_001009944.2:p.(Ala3512Val)	NC_000016.9:g.2144176G>A	(Likely) benign	1 lab	89986eb1c5
12:112888208 PTPN11 C>T	12	112888208	112888208	C	T	PTPN11	c.224C>T	NM_002834.3	NP_002825.3:p.(Ala75Val)	NC_000012.11:g.112888208C>T	VUS	1 lab	8999ea81d7
22:19747082 TBX1 G>C	22	19747082	19747082	G	C	TBX1	c.-85G>C	NM_080646.1	NP_542377.1:p.?	NC_000022.10:g.19747082G>C	(Likely) benign	1 lab	89a3273e8a
16:3823889 CREBBP T>C	16	3823889	3823889	T	C	CREBBP	c.2326A>G	NM_004380.2	NP_004371.2:p.(Met776Val)	NC_000016.9:g.3823889T>C	VUS	1 lab	89a7759d84
13:32918878 BRCA2 A>C	13	32918878	32918878	A	C	BRCA2	c.6937+88A>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32918878A>C	(Likely) benign	1 lab	89a8a65cb8
21:46328099 ITGB2 T>C	21	46328099	46328099	T	C	ITGB2	c.148-1089A>G	NM_000211.5	NP_000202.3:p.?	NC_000021.8:g.46328099T>C	(Likely) benign	1 lab	067729316d
5:180043978 FLT4 C>T	5	180043978	180043978	C	T	FLT4	c.3018G>A	NM_182925.4	NP_891555.2:p.(Leu1006=)	NC_000005.9:g.180043978C>T	(Likely) benign	1 lab	89ac16cb42
2:227924351 COL4A4 CA>C	2	227924351	227924360	CA	C	COL4A4	c.2165-13del	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924360del	(Likely) benign	1 lab	89ac4cc31b
X:38144950 RPGR TTA>T	X	38144950	38144953	TTA	T	RPGR	c.3300_3301del	NM_001034853.1	NP_001030025.1:p.(His1100GlnfsTer10)	NC_000023.10:g.38144952_38144953del	(Likely) pathogenic	1 lab	89b102770f
17:41247929 BRCA1 G>A	17	41247929	41247929	G	A	BRCA1	c.604C>T	NM_007294.3	NP_009225.1:p.(Gln202Ter)	NC_000017.10:g.41247929G>A	(Likely) pathogenic	1 lab	89b454f4bf
1:196963213 CFHR5 G>A	1	196963213	196963213	G	A	CFHR5	c.434G>A	NM_030787.3	NP_110414.1:p.(Gly145Glu)	NC_000001.10:g.196963213G>A	(Likely) benign	1 lab	89b6467ef0
12:6103094 VWF C>A	12	6103094	6103094	C	A	VWF	c.6532G>T	NM_000552.3	NP_000543.2:p.(Ala2178Ser)	NC_000012.11:g.6103094C>A	(Likely) benign	1 lab	89b67c4ed1
X:53440234 SMC1A C>T	X	53440234	53440234	C	T	SMC1A	c.563G>A	NM_006306.2	NP_006297.2:p.(Arg188His)	NC_000023.10:g.53440234C>T	(Likely) pathogenic	1 lab	89c21568ca
1:220379267 RAB3GAP2 G>A	1	220379267	220379267	G	A	RAB3GAP2	c.694C>T	NM_012414.3	NP_036546.2:p.(Arg232Ter)	NC_000001.10:g.220379267G>A	(Likely) pathogenic	1 lab	89c3af4921
X:41010199 USP9X G>A	X	41010199	41010199	G	A	USP9X				NC_000023.10:g.41010199G>A	(Likely) pathogenic	1 lab	89c523f414
3:38921486 SCN11A C>T	3	38921486	38921486	C	T	SCN11A	c.3348G>A	NM_014139.2	NP_054858.2:p.(Lys1116=)	NC_000003.11:g.38921486C>T	(Likely) benign	1 lab	89c7ecd5b7
1:152278876 FLG C>T	1	152278876	152278876	C	T	FLG				NC_000001.10:g.152278876C>T	(Likely) benign	1 lab	89cc868506
17:41245617 BRCA1 C>A	17	41245617	41245617	C	A	BRCA1	c.1931G>T	NM_007294.3	NP_009225.1:p.(Cys644Phe)	NC_000017.10:g.41245617C>A	(Likely) benign	1 lab	89d20d2ec6
2:165969402 SCN3A A>G	2	165969402	165969402	A	G	SCN3A	c.3836T>C	NM_006922.4	NP_008853.3:p.(Ile1279Thr)	NC_000002.11:g.165969402A>G	VUS	1 lab	89d43039af
2:47748741 MSH2 G>A	2	47748741	47748741	G	A	MSH2				NC_000002.11:g.47748741G>A	(Likely) benign	1 lab	8c2e8e5913
11:17794092 KCNC1 A>G	11	17794092	17794092	A	G	KCNC1	c.1451A>G	NM_001112741.1	NP_001106212.1:p.(Gln484Arg)	NC_000011.9:g.17794092A>G	VUS	1 lab	89d61f1301
6:152641283 SYNE1 ACT>A	6	152641283	152641287	ACT	A	SYNE1	c.16236+1088_16236+1089del	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152641286_152641287del	(Likely) benign	1 lab	89d9809912
X:591117 SHOX C>G	X	591117	591117	C	G	SHOX	c.-432-84C>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591117C>G	(Likely) benign	1 lab	89dad57eb3
1:215933008 USH2A T>C	1	215933008	215933008	T	C	USH2A	c.11225A>G	NM_206933.2	NP_996816.2:p.(Asn3742Ser)	NC_000001.10:g.215933008T>C	VUS	1 lab	89e36cb9a1
11:65635868 EFEMP2 G>A	11	65635868	65635868	G	A	EFEMP2	c.872C>T	NM_016938.4	NP_058634.4:p.(Ala291Val)	NC_000011.9:g.65635868G>A	(Likely) benign	1 lab	89e3a625ab
15:65369624 KBTBD13 C>G	15	65369624	65369624	C	G	KBTBD13	c.471C>G	NM_001101362.2	NP_001094832.1:p.(Tyr157Ter)	NC_000015.9:g.65369624C>G	VUS	1 lab	89e4185ca2
1:235597382 TBCE C>CAT	1	235597382	235597384	C	CAT	TBCE	c.661-136_661-135insTA	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235597383_235597384insTA	(Likely) benign	1 lab	0d564e593e
5:37051935 NIPBL A>G	5	37051935	37051935	A	G	NIPBL	c.7009A>G	NM_133433.4	NP_597677.2:p.(Lys2337Glu)	NC_000005.9:g.37051935A>G	(Likely) pathogenic	1 lab	89e70db7e8
11:108139096 ATM G>A	11	108139096	108139096	G	A	ATM	c.2639-41G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108139096G>A	(Likely) benign	1 lab	89e713d2d4
2:210837868 UNC80 A>G	2	210837868	210837868	A	G	UNC80	c.8263A>G	NM_032504.1	NP_115893.1:p.(Ser2755Gly)	NC_000002.11:g.210837868A>G	VUS	1 lab	89e7ddaaa3
2:26502941 HADHB C>T	2	26502941	26502941	C	T	HADHB	c.891C>T	NM_000183.2	NP_000174.1:p.(Ile297=)	NC_000002.11:g.26502941C>T	(Likely) benign	1 lab	89ee1c5407
2:179486051 TTN G>C	2	179486051	179486051	G	C	TTN	c.45394C>G	NM_001267550.2	NP_001254479.2:p.(Leu15132Val)	NC_000002.11:g.179486051G>C	(Likely) benign	1 lab	89f6fce180
11:613087 IRF7 C>G	11	613087	613087	C	G	IRF7	c.1307G>C	NM_004031.4	NP_004022.2:p.(Arg436Pro)	NC_000011.9:g.613087C>G	(Likely) benign	1 lab	0d5779dfcb
7:128482977 FLNC G>A	7	128482977	128482977	G	A	FLNC	c.2519G>A	NM_001458.4	NP_001449.3:p.(Arg840His)	NC_000007.13:g.128482977G>A	(Likely) benign	1 lab	89fb81c858
16:30745976 SRCAP C>T	16	30745976	30745976	C	T	SRCAP	c.6729+40C>T	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30745976C>T	VUS	1 lab	89fbfa912a
2:47709936 MSH2 C>T	2	47709936	47709936	C	T	MSH2	c.2653C>T	NM_000251.2	NP_000242.1:p.(Gln885Ter)	NC_000002.11:g.47709936C>T	(Likely) pathogenic	1 lab	89fe5fde86
11:65960956 PACS1 G>T	11	65960956	65960956	G	T	PACS1	c.357-1G>T	NM_018026.4	NP_060496.2:p.?	NC_000011.9:g.65960956G>T	VUS	1 lab	89fe9b0bf5
1:180849352 XPR1 A>T	1	180849352	180849352	A	T	XPR1	c.1949A>T	NM_004736.4	NP_004727.2:p.(Asp650Val)	NC_000001.10:g.180849352A>T	VUS	1 lab	89febc9675
7:128470635 FLNC C>T	7	128470635	128470635	C	T	FLNC	c.-57C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128470635C>T	(Likely) benign	1 lab	89ff633d3f
2:73679990 MISSING T>A	2	73679990	73679990	T	A	MISSING				NC_000002.11:g.73679990T>A	(Likely) benign	1 lab	8a00b4b0da
11:129814801 PRDM10 G>C	11	129814801	129814801	G	C	PRDM10	c.627C>G	NM_199437.2	NP_955469.1:p.(Pro209=)	NC_000011.9:g.129814801G>C	(Likely) benign	1 lab	8a01d9cca9
11:68131356 LRP5 T>C	11	68131356	68131356	T	C	LRP5	c.828T>C	NM_002335.4	NP_002326.2:p.(Ser276=)	NC_000011.9:g.68131356T>C	(Likely) benign	1 lab	8a028e2f27
5:233734 SDHA C>G	5	233734	233734	C	G	SDHA	c.1038C>G	NM_004168.2	NP_004159.2:p.(Ser346=)	NC_000005.9:g.233734C>G	(Likely) benign	1 lab	8a09e00f90
9:94519662 ROR2 G>A	9	94519662	94519662	G	A	ROR2				NC_000009.11:g.94519662G>A	(Likely) pathogenic	1 lab	8a0b8afba3
17:60678182 TLK2 G>T	17	60678182	60678182	G	T	TLK2	c.1720+1G>T	NM_006852.3	NP_006843.2:p.?	NC_000017.10:g.60678182G>T	(Likely) pathogenic	1 lab	8a0d24442e
17:41245780 BRCA1 T>C	17	41245780	41245780	T	C	BRCA1	c.1768A>G	NM_007294.4	NP_009225.1:p.(Ser590Gly)	NC_000017.10:g.41245780T>C	VUS	1 lab	8a0e1ada47
17:41258633 BRCA1 A>T	17	41258633	41258633	A	T	BRCA1	c.135-83T>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41258633A>T	(Likely) benign	1 lab	8a0e53e79f
2:165946871 SCN3A G>A	2	165946871	165946871	G	A	SCN3A	c.5792C>T	NM_006922.4	NP_008853.3:p.(Ala1931Val)	NC_000002.11:g.165946871G>A	VUS	1 lab	067ea6194c
1:152283943 FLG C>T	1	152283943	152283943	C	T	FLG	c.3419G>A	NM_002016.1	NP_002007.1:p.(Arg1140Gln)	NC_000001.10:g.152283943C>T	(Likely) benign	1 lab	8a11dddd27
18:73000074 TSHZ1 C>T	18	73000074	73000074	C	T	TSHZ1	c.2577C>T	NM_005786.5	NP_005777.3:p.(Phe859=)	NC_000018.9:g.73000074C>T	(Likely) benign	1 lab	8a186f7d42
X:82764307 POU3F4 G>T	X	82764307	82764307	G	T	POU3F4	c.975G>T	NM_000307.5	NP_000298.3:p.(Trp325Cys)	NC_000023.10:g.82764307G>T	(Likely) pathogenic	1 lab	8a1a348bba
11:76886439 MYO7A C>T	11	76886439	76886439	C	T	MYO7A	c.2116C>T	NM_000260.3	NP_000251.3:p.(Gln706Ter)	NC_000011.9:g.76886439C>T	(Likely) pathogenic	1 lab	8a1afa09d1
19:11141529 SMARCA4 A>G	19	11141529	11141529	A	G	SMARCA4	c.3506A>G	NM_001128849.1	NP_001122321.1:p.(Asp1169Gly)	NC_000019.9:g.11141529A>G	VUS	1 lab	8a1cf27628
X:38150223 RPGR G>A	X	38150223	38150223	G	A	RPGR	c.1561C>T	NM_001034853.1	NP_001030025.1:p.(Gln521Ter)	NC_000023.10:g.38150223G>A	(Likely) pathogenic	1 lab	8a25da7599
2:179429847 TTN T>C	2	179429847	179429847	T	C	TTN	c.81012A>G	NM_001267550.2	NP_001254479.2:p.(Gln27004=)	NC_000002.11:g.179429847T>C	(Likely) benign	1 lab	8a2a00906a
1:74905282 TNNI3K A>T	1	74905282	74905282	A	T	TNNI3K	c.1987A>T	NM_015978.2	NP_057062.1:p.(Ile663Phe)	NC_000001.10:g.74905282A>T	VUS	1 lab	8a2c8fa01e
5:180052982 FLT4 C>T	5	180052982	180052982	C	T	FLT4	c.1308G>A	NM_182925.4	NP_891555.2:p.(Ser436=)	NC_000005.9:g.180052982C>T	(Likely) benign	1 lab	8a2c92607b
19:12917906 RNASEH2A T>G	19	12917906	12917906	T	G	RNASEH2A	c.199+13T>G	NM_006397.3	NP_006388.2:p.?	NC_000019.9:g.12917906T>G	(Likely) benign	1 lab	067f7d148f
12:32977033 PKP2 G>A	12	32977033	32977033	G	A	PKP2	c.1752C>T	NM_004572.3	NP_004563.2:p.(Asp584=)	NC_000012.11:g.32977033G>A	(Likely) benign	1 lab	8a2d6f9a28
15:44862732 SPG11 A>G	15	44862732	44862732	A	G	SPG11	c.6468T>C	NM_025137.4	NP_079413.3:p.(Tyr2156=)	NC_000015.9:g.44862732A>G	(Likely) benign	1 lab	067f7f38b1
6:123699015 TRDN T>C	6	123699015	123699015	T	C	TRDN	c.1215A>G	NM_006073.3	NP_006064.2:p.(Glu405=)	NC_000006.11:g.123699015T>C	(Likely) benign	1 lab	8a34a00d9f
2:179559372 TTN T>C	2	179559372	179559372	T	C	TTN	c.31380A>G	NM_001267550.2	NP_001254479.2:p.(Gln10460=)	NC_000002.11:g.179559372T>C	(Likely) benign	1 lab	8a3550bb2d
8:30938704 WRN G>A	8	30938704	30938704	G	A	WRN	c.1161G>A	NM_000553.4	NP_000544.2:p.(Met387Ile)	NC_000008.10:g.30938704G>A	(Likely) benign	1 lab	8a379b2dbd
12:57958281 KIF5A CCT>C	12	57958281	57958283	CCT	C	KIF5A	c.436_437del	NM_004984.2	NP_004975.2:p.(Leu146SerfsTer25)	NC_000012.11:g.57958282_57958283del	VUS	1 lab	8a3c92f9ad
17:41197734 BRCA1 G>A	17	41197734	41197734	G	A	BRCA1	c.5553C>T	NM_007294.4	NP_009225.1:p.(Asp1851=)	NC_000017.10:g.41197734G>A	(Likely) benign	1 lab	8a3c9db499
2:73677898 MISSING G>C	2	73677898	73677898	G	C	MISSING				NC_000002.11:g.73677898G>C	(Likely) benign	1 lab	8a3d656687
18:43523312 EPG5 G>A	18	43523312	43523312	G	A	EPG5	c.1793-35C>T	NM_020964.2	NP_066015.2:p.?	NC_000018.9:g.43523312G>A	(Likely) benign	1 lab	8a3e4401cb
3:37038771 MLH1 C>T	3	37038771	37038771	C	T	MLH1	c.207+571C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37038771C>T	(Likely) benign	1 lab	8a401ea76e
17:29586056 NF1 C>A	17	29586056	29586056	C	A	NF1	c.4276C>A	NM_000267.3	NP_000258.1:p.(Gln1426Lys)	NC_000017.10:g.29586056C>A	(Likely) pathogenic	1 lab	8a43a9d435
8:55533824 RP1 G>T	8	55533824	55533824	G	T	RP1	c.298G>T	NM_006269.2	NP_006260.1:p.(Asp100Tyr)	NC_000008.10:g.55533824G>T	VUS	1 lab	8a44671d0b
2:48027661 MSH6 G>T	2	48027661	48027661	G	T	MSH6	c.2539G>T	NM_000179.2	NP_000170.1:p.(Glu847Ter)	NC_000002.11:g.48027661G>T	(Likely) pathogenic	1 lab	8a452a92e9
5:138163298 CTNNA1 T>C	5	138163298	138163298	T	C	CTNNA1	c.953T>C	NM_001903.5	NP_001894.2:p.(Leu318Ser)	NC_000005.9:g.138163298T>C	(Likely) pathogenic	1 lab	8a46b2fa33
2:173351875 ITGA6 CGTT>C	2	173351875	173351880	CGTT	C	ITGA6	c.1970+12_1970+14del	NM_000210.4	NP_000201.2:p.?	NC_000002.11:g.173351878_173351880del	(Likely) benign	1 lab	068062af1c
11:17554801 USH1C C>T	11	17554801	17554801	C	T	USH1C	c.104+1G>A	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17554801C>T	(Likely) pathogenic	1 lab	8a52c68288
1:196871534 CFHR4 T>C	1	196871534	196871534	T	C	CFHR4	c.59-14T>C	NM_001201550.2	NP_001188479.1:p.?	NC_000001.10:g.196871534T>C	(Likely) benign	1 lab	8a57121401
3:191098674 CCDC50 C>T	3	191098674	191098674	C	T	CCDC50	c.1195C>T	NM_178335.3	NP_848018.1:p.(Arg399Trp)	NC_000003.11:g.191098674C>T	VUS	1 lab	8a5713ba50
11:108117956 ATM A>T	11	108117956	108117956	A	T	ATM	c.1065+102A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108117956A>T	(Likely) benign	1 lab	8a5858a8ff
19:13372264 CACNA1A C>T	19	13372264	13372264	C	T	CACNA1A	c.4253G>A	NM_001127221.1	NP_001120693.1:p.(Arg1418Gln)	NC_000019.9:g.13372264C>T	(Likely) pathogenic	1 lab	8a5b880267
2:167083170 SCN9A A>C	2	167083170	167083170	A	C	SCN9A	c.4305T>G	NM_001365536.1	NP_001352465.1:p.(Ile1435Met)	NC_000002.11:g.167083170A>C	(Likely) benign	1 lab	8a5d52c14d
18:21136248 NPC1 C>CATCA	18	21136248	21136252	C	CATCA	NPC1	c.1281_1284dup	NM_000271.5	NP_000262.2:p.(Val429Ter)	NC_000018.9:g.21136249_21136252dup	(Likely) pathogenic	1 lab	8a5f17a3ec
8:48874074 MCM4 A>G	8	48874074	48874074	A	G	MCM4	c.71-2A>G	NM_182746.3	NP_877423.1:p.?	NC_000008.10:g.48874074A>G	(Likely) pathogenic	1 lab	8a60117cb0
17:62018829 SCN4A T>G	17	62018829	62018829	T	G	SCN4A	c.4813A>C	NM_000334.4	NP_000325.4:p.(Thr1605Pro)	NC_000017.10:g.62018829T>G	VUS	1 lab	8a6038155f
7:107430088 SLC26A3 A>G	7	107430088	107430088	A	G	SLC26A3	c.616T>C	NM_000111.2	NP_000102.1:p.(Ser206Pro)	NC_000007.13:g.107430088A>G	VUS	1 lab	8a61160a2f
10:90750666 FAS G>C	10	90750666	90750666	G	C	FAS	c.30+3G>C	NM_000043.5	NP_000034.1:p.?	NC_000010.10:g.90750666G>C	(Likely) benign	1 lab	8a626b189a
11:108224553 ATM C>A	11	108224553	108224553	C	A	ATM	c.8732C>A	NM_000051.3	NP_000042.3:p.(Thr2911Asn)	NC_000011.9:g.108224553C>A	VUS	1 lab	8a62cdca36
11:108186643 ATM A>T	11	108186643	108186643	A	T	ATM	c.6095+5A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186643A>T	(Likely) benign	1 lab	8a63880aa9
16:8891810 PMM2 G>A	16	8891810	8891810	G	A	PMM2	c.66+5G>A	NM_000303.3	NP_000294.1:p.?	NC_000016.9:g.8891810G>A	(Likely) benign	1 lab	0683f16234
21:47545827 COL6A2 G>A	21	47545827	47545827	G	A	COL6A2	c.2098G>A	NM_001849.3	NP_001840.3:p.(Gly700Ser)	NC_000021.8:g.47545827G>A	VUS	1 lab	8a6828bb54
16:89574828 SPG7 G>A	16	89574828	89574828	G	A	SPG7	c.3G>A	NM_003119.2	NP_003110.1:p.(Met1?)	NC_000016.9:g.89574828G>A	(Likely) pathogenic	1 lab	8a691df83f
11:47356605 MYBPC3 G>A	11	47356605	47356605	G	A	MYBPC3	c.2893C>T	NM_000256.3	NP_000247.2:p.(Gln965Ter)	NC_000011.9:g.47356605G>A	(Likely) pathogenic	1 lab	8a69af2b81
22:41527466 EP300 C>G	22	41527466	41527466	C	G	EP300	c.1357C>G	NM_001429.4	NP_001420.2:p.(Leu453Val)	NC_000022.10:g.41527466C>G	VUS	1 lab	068560ee99
9:136290672 ADAMTS13 G>A	9	136290672	136290672	G	A	ADAMTS13	c.354G>A	NM_139025.4	NP_620594.1:p.(Pro118=)	NC_000009.11:g.136290672G>A	(Likely) benign	1 lab	8a6fe7628e
3:45461162 LARS2 A>C	3	45461162	45461162	A	C	LARS2	c.457A>C	NM_015340.3	NP_056155.1:p.(Asn153His)	NC_000003.11:g.45461162A>C	VUS	1 lab	8a708c9013
12:80749624 OTOGL T>C	12	80749624	80749624	T	C	OTOGL	c.5675T>C	NM_173591.3	NP_775862.3:p.(Ile1892Thr)	NC_000012.11:g.80749624T>C	VUS	1 lab	8afa4eb5c2
1:215847490 USH2A G>T	1	215847490	215847490	G	T	USH2A	c.13763C>A	NM_206933.2	NP_996816.2:p.(Ser4588Tyr)	NC_000001.10:g.215847490G>T	(Likely) benign	1 lab	8a77111aa7
20:60866818 OSBPL2 C>A	20	60866818	60866818	C	A	OSBPL2	c.909C>A	NM_001278649.1	NP_001265578.1:p.(Ser303Arg)	NC_000020.10:g.60866818C>A	VUS	1 lab	8a77a4d667
11:65638705 EFEMP2 G>A	11	65638705	65638705	G	A	EFEMP2	c.290C>T	NM_016938.4	NP_058634.4:p.(Pro97Leu)	NC_000011.9:g.65638705G>A	(Likely) benign	1 lab	8a79af1df7
17:79813340 P4HB C>T	17	79813340	79813340	C	T	P4HB	c.475G>A	NM_000918.4	NP_000909.2:p.(Gly159Ser)	NC_000017.10:g.79813340C>T	VUS	1 lab	8aa366b7d4
9:139571096 AGPAT2 C>T	9	139571096	139571096	C	T	AGPAT2	c.529G>A	NM_006412.3	NP_006403.2:p.(Asp177Asn)	NC_000009.11:g.139571096C>T	(Likely) benign	1 lab	8a7d21308c
22:38122474 TRIOBP G>C	22	38122474	38122474	G	C	TRIOBP	c.3911G>C	NM_001039141.2	NP_001034230.1:p.(Arg1304Pro)	NC_000022.10:g.38122474G>C	VUS	1 lab	8a7f124fe7
12:6155892 VWF G>T	12	6155892	6155892	G	T	VWF	c.2278C>A	NM_000552.3	NP_000543.2:p.(Arg760Ser)	NC_000012.11:g.6155892G>T	VUS	1 lab	8a83389dc3
22:46787620 CELSR1 C>T	22	46787620	46787620	C	T	CELSR1	c.6058G>A	NM_001378328.1	NP_001365257.1:p.(Gly2020Arg)	NC_000022.10:g.46787620C>T	VUS	1 lab	8a8547c1db
1:154557407 ADAR T>C	1	154557407	154557407	T	C	ADAR	c.3556A>G	NM_001111.5	NP_001102.3:p.(Lys1186Glu)	NC_000001.10:g.154557407T>C	(Likely) pathogenic	1 lab	8a8912cdf9
4:1807042 FGFR3 C>T	4	1807042	1807042	C	T	FGFR3	c.1413-40C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807042C>T	VUS	1 lab	8a8ed05234
8:11606528 GATA4 C>T	8	11606528	11606528	C	T	GATA4	c.720C>T	NM_001308093.1	NP_001295022.1:p.(Asn240=)	NC_000008.10:g.11606528C>T	(Likely) benign	1 lab	8a93e27311
1:216138688 USH2A AG>A	1	216138688	216138690	AG	A	USH2A	c.7090del	NM_206933.4	NP_996816.3:p.(Leu2364PhefsTer8)	NC_000001.10:g.216138690del	(Likely) pathogenic	1 lab	8a9869187f
5:92929459 NR2F1 G>T	5	92929459	92929459	G	T	NR2F1	c.1183G>T	NM_005654.6	NP_005645.1:p.(Gly395Cys)	NC_000005.9:g.92929459G>T	(Likely) pathogenic	1 lab	8a9de5904b
2:227953357 COL4A4 A>G	2	227953357	227953357	A	G	COL4A4	c.1623+12T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227953357A>G	(Likely) benign	1 lab	8aa1a9949b
5:92921052 NR2F1 G>C	5	92921052	92921052	G	C	NR2F1	c.323G>C	NM_005654.6	NP_005645.1:p.(Ser108Thr)	NC_000005.9:g.92921052G>C	VUS	1 lab	068bc9519d
3:9985640 CRELD1 T>A	3	9985640	9985640	T	A	CRELD1	c.1103T>A	NM_001031717.4	NP_001026887.2:p.(Leu368Ter)	NC_000003.11:g.9985640T>A	VUS	1 lab	0692435d91
2:47693947 MSH2 G>A	2	47693947	47693947	G	A	MSH2	c.1661G>A	NM_000251.2	NP_000242.1:p.(Ser554Asn)	NC_000002.11:g.47693947G>A	(Likely) pathogenic	1 lab	8aaf4b5081
17:76503397 DNAH17 G>A	17	76503397	76503397	G	A	DNAH17	c.4639C>T	NM_173628.4	NP_775899.3:p.(Pro1547Ser)	NC_000017.10:g.76503397G>A	VUS	1 lab	8ab0a86d9a
5:112175563 APC AG>A	5	112175563	112175564	AG	A	APC	c.4273del	NM_000038.6	NP_000029.2:p.(Asp1425IlefsTer48)	NC_000005.9:g.112175564del	(Likely) pathogenic	1 lab	8ab2882ca3
20:32031202 SNTA1 C>G	20	32031202	32031202	C	G	SNTA1	c.225G>C	NM_003098.2	NP_003089.1:p.(Pro75=)	NC_000020.10:g.32031202C>G	(Likely) benign	1 lab	8ab45583c3
6:76623980 MYO6 C>T	6	76623980	76623980	C	T	MYO6	c.3640C>T	NM_004999.3	NP_004990.3:p.(Pro1214Ser)	NC_000006.11:g.76623980C>T	(Likely) benign	1 lab	8ab49b7518
X:153578207 FLNA C>T	X	153578207	153578207	C	T	FLNA	c.7338G>A	NM_001456.3	NP_001447.2:p.(Thr2446=)	NC_000023.10:g.153578207C>T	(Likely) benign	1 lab	8ab5feb34d
4:85752605 WDFY3 G>A	4	85752605	85752605	G	A	WDFY3	c.730C>T	NM_014991.6	NP_055806.2:p.(Arg244Cys)	NC_000004.11:g.85752605G>A	(Likely) pathogenic	1 lab	8ab7bb4b25
20:62126417 EEF1A2 C>T	20	62126417	62126417	C	T	EEF1A2	c.362G>A	NM_001958.5	NP_001949.1:p.(Gly121Asp)	NC_000020.10:g.62126417C>T	VUS	1 lab	8ab7c13e65
2:152507150 NEB TC>T	2	152507150	152507152	TC	T	NEB	c.7164del	NM_001271208.1	NP_001258137.1:p.(Trp2388Ter)	NC_000002.11:g.152507152del	(Likely) pathogenic	1 lab	8abbcca9f3
17:41244987 BRCA1 G>A	17	41244987	41244987	G	A	BRCA1	c.2561C>T	NM_007294.3	NP_009225.1:p.(Ala854Val)	NC_000017.10:g.41244987G>A	(Likely) benign	1 lab	8abca5a81a
12:120729640 RNU4-2 T>G	12	120729640	120729640	T	G	RNU4-2	n.67A>C	NR_003137.3		NC_000012.11:g.120729640T>G	(Likely) pathogenic	1 lab	8ac199e6fb
7:151254231 PRKAG2 C>T	7	151254231	151254231	C	T	PRKAG2	c.*56G>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151254231C>T	(Likely) benign	1 lab	8ac26c99c3
5:149631375 CAMK2A G>A	5	149631375	149631375	G	A	CAMK2A	c.631C>T	NM_015981.3	NP_057065.2:p.(Pro211Ser)	NC_000005.9:g.149631375G>A	(Likely) benign	1 lab	8ac405bfc1
19:46275071 DMPK C>A	19	46275071	46275071	C	A	DMPK	c.1490G>T	NM_001081563.2	NP_001075032.1:p.(Arg497Leu)	NC_000019.9:g.46275071C>A	VUS	1 lab	069a8c4831
6:112575247 LAMA4 T>C	6	112575247	112575247	T	C	LAMA4	c.106A>G	NM_001105206.2	NP_001098676.2:p.(Ile36Val)	NC_000006.11:g.112575247T>C	(Likely) benign	1 lab	8ac6aec6b5
1:216017784 USH2A C>T	1	216017784	216017784	C	T	USH2A	c.9110G>A	NM_206933.2	NP_996816.2:p.(Arg3037His)	NC_000001.10:g.216017784C>T	(Likely) benign	1 lab	8acb08b0c3
1:152276889 FLG A>G	1	152276889	152276889	A	G	FLG	c.10473T>C	NM_002016.1	NP_002007.1:p.(Asn3491=)	NC_000001.10:g.152276889A>G	(Likely) benign	1 lab	8acd92897c
X:107863489 COL4A5 G>GT	X	107863489	107863492	G	GT	COL4A5	c.2513dup	NM_033380.2	NP_203699.1:p.(Leu838PhefsTer17)	NC_000023.10:g.107863492dup	(Likely) pathogenic	1 lab	8ad420f0f5
1:215960010 USH2A A>G	1	215960010	215960010	A	G	USH2A	c.10387+2T>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215960010A>G	(Likely) pathogenic	1 lab	8ad56809b7
2:179397415 TTN CAGG>C	2	179397415	179397420	CAGG	C	TTN	c.103924_103926del	NM_001267550.2	NP_001254479.2:p.(Pro34642del)	NC_000002.11:g.179397418_179397420del	VUS	1 lab	8ad5e4edb1
16:68844149 CDH1 T>A	16	68844149	68844149	T	A	CDH1	c.737T>A	NM_004360.3	NP_004351.1:p.(Met246Lys)	NC_000016.9:g.68844149T>A	VUS	1 lab	8ad617ee80
6:31917068 CFB G>A	6	31917068	31917068	G	A	CFB	c.1217G>A	NM_001710.6	NP_001701.2:p.(Arg406Gln)	NC_000006.11:g.31917068G>A	VUS	1 lab	8afdf5893f
2:16086002 MYCN G>A	2	16086002	16086002	G	A	MYCN	c.1178G>A	NM_005378.4	NP_005369.2:p.(Arg393His)	NC_000002.11:g.16086002G>A	(Likely) pathogenic	1 lab	8ad713cc1e
1:39322639 RRAGC G>A	1	39322639	39322639	G	A	RRAGC	c.353C>T	NM_022157.4	NP_071440.1:p.(Pro118Leu)	NC_000001.10:g.39322639G>A	(Likely) pathogenic	1 lab	8ad8a882a2
17:41277487 BRCA1 C>T	17	41277487	41277487	C	T	BRCA1	c.-219G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277487C>T	(Likely) benign	1 lab	8ad8bb1485
13:32953423 BRCA2 C>G	13	32953423	32953423	C	G	BRCA2	c.8755-31C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953423C>G	(Likely) benign	1 lab	8ad9bbf928
14:23856896 MYH6 A>G	14	23856896	23856896	A	G	MYH6	c.4526-34T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23856896A>G	(Likely) benign	1 lab	8ada504520
1:35250411 GJB3 C>A	1	35250411	35250411	C	A	GJB3	c.48C>A	NM_024009.2	NP_076872.1:p.(Tyr16Ter)	NC_000001.10:g.35250411C>A	VUS	1 lab	8adc52ee64
8:42019921 AP3M2 A>T	8	42019921	42019921	A	T	AP3M2	c.568A>T	NM_001134296.1	NP_001127768.1:p.(Ile190Phe)	NC_000008.10:g.42019921A>T	VUS	1 lab	8adf022b90
20:60903006 LAMA5 G>A	20	60903006	60903006	G	A	LAMA5	c.4713C>T	NM_005560.4	NP_005551.3:p.(Tyr1571=)	NC_000020.10:g.60903006G>A	(Likely) benign	1 lab	0d5a73c238
8:61734494 CHD7 T>C	8	61734494	61734494	T	C	CHD7	c.2835+8T>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61734494T>C	(Likely) benign	1 lab	8ae6e0173a
1:45797133 MUTYH C>G	1	45797133	45797133	C	G	MUTYH	c.1282G>C	NM_001128425.1	NP_001121897.1:p.(Ala428Pro)	NC_000001.10:g.45797133C>G	VUS	1 lab	8aeab56d8c
5:112177324 APC A>T	5	112177324	112177324	A	T	APC	c.6033A>T	NM_000038.5	NP_000029.2:p.(Ser2011=)	NC_000005.9:g.112177324A>T	(Likely) benign	1 lab	8aec28d250
5:131729928 SLC22A5 A>G	5	131729928	131729928	A	G	SLC22A5	c.1710A>G	NM_001308122.1	NP_001295051.1:p.(Gln570=)	NC_000005.9:g.131729928A>G	(Likely) benign	1 lab	8aed287362
16:21752249 OTOA G>A	16	21752249	21752249	G	A	OTOA	c.2619+20G>A	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21752249G>A	(Likely) benign	1 lab	8af981bc92
17:56770124 RAD51C G>A	17	56770124	56770124	G	A	RAD51C	c.120G>A	NM_058216.3	NP_478123.1:p.(Glu40=)	NC_000017.10:g.56770124G>A	(Likely) benign	1 lab	8aff167371
19:29698552 UQCRFS1 T>C	19	29698552	29698552	T	C	UQCRFS1	c.728A>G	NM_006003.2	NP_005994.2:p.(Tyr243Cys)	NC_000019.9:g.29698552T>C	(Likely) pathogenic	1 lab	8affec3a20
8:61749570 CHD7 A>G	8	61749570	61749570	A	G	CHD7	c.4184A>G	NM_017780.3	NP_060250.2:p.(Gln1395Arg)	NC_000008.10:g.61749570A>G	(Likely) pathogenic	1 lab	8b042d81e5
2:190426639 SLC40A1 T>C	2	190426639	190426639	T	C	SLC40A1	c.1681A>G	NM_014585.6	NP_055400.1:p.(Arg561Gly)	NC_000002.11:g.190426639T>C	(Likely) benign	1 lab	8b055e92c2
17:41246765 BRCA1 A>C	17	41246765	41246765	A	C	BRCA1	c.783T>G	NM_007294.4	NP_009225.1:p.(Tyr261Ter)	NC_000017.10:g.41246765A>C	(Likely) pathogenic	1 lab	06a1bee4d4
1:224605969 WDR26 A>G	1	224605969	224605969	A	G	WDR26	c.1012T>C	NM_025160.7	NP_079436.4:p.(Cys338Arg)	NC_000001.10:g.224605969A>G	VUS	1 lab	06a2fd9adc
16:3832687 CREBBP A>T	16	3832687	3832687	A	T	CREBBP	c.1571T>A	NM_004380.2	NP_004371.2:p.(Leu524Gln)	NC_000016.9:g.3832687A>T	VUS	1 lab	8b0f27a9fb
2:74128554 ACTG2 C>G	2	74128554	74128554	C	G	ACTG2	c.116C>G	NM_001615.3	NP_001606.1:p.(Pro39Arg)	NC_000002.11:g.74128554C>G	(Likely) pathogenic	1 lab	8b1297d8f8
2:25966345 ASXL2 GTC>G	2	25966345	25966347	GTC	G	ASXL2	c.2859_2860del	NM_018263.6	NP_060733.4:p.(Thr954SerfsTer16)	NC_000002.11:g.25966346_25966347del	(Likely) pathogenic	1 lab	8b12d68a10
X:154159915 F8 C>T	X	154159915	154159915	C	T	F8	c.2150G>A	NM_000132.4	NP_000123.1:p.(Arg717Gln)	NC_000023.10:g.154159915C>T	(Likely) pathogenic	1 lab	8b18d90a53
X:5821232 NLGN4X A>T	X	5821232	5821232	A	T	NLGN4X	c.1487T>A	NM_181332.3	NP_851849.1:p.(Val496Asp)	NC_000023.10:g.5821232A>T	VUS	1 lab	8b1b1e21bb
1:228560779 OBSCN G>A	1	228560779	228560779	G	A	OBSCN	c.25171G>A	NM_001271223.2	NP_001258152.2:p.(Glu8391Lys)	NC_000001.10:g.228560779G>A	(Likely) benign	1 lab	8b1b3954de
5:137750858 KDM3B G>A	5	137750858	137750858	G	A	KDM3B	c.3237G>A	NM_016604.4	NP_057688.3:p.(Trp1079Ter)	NC_000005.9:g.137750858G>A	(Likely) pathogenic	1 lab	8b1c851a59
16:3820924 CREBBP G>C	16	3820924	3820924	G	C	CREBBP	c.2527C>G	NM_004380.2	NP_004371.2:p.(Leu843Val)	NC_000016.9:g.3820924G>C	VUS	1 lab	8b1e58c866
2:179417964 TTN A>G	2	179417964	179417964	A	G	TTN	c.89663T>C	NM_001267550.2	NP_001254479.2:p.(Ile29888Thr)	NC_000002.11:g.179417964A>G	VUS	1 lab	06a489b80b
4:151719263 LRBA A>G	4	151719263	151719263	A	G	LRBA	c.5550T>C	NM_006726.4	NP_006717.2:p.(Val1850=)	NC_000004.11:g.151719263A>G	(Likely) benign	1 lab	8b290a2efe
2:179594105 TTN T>G	2	179594105	179594105	T	G	TTN	c.18778A>C	NM_001267550.2	NP_001254479.2:p.(Lys6260Gln)	NC_000002.11:g.179594105T>G	VUS	1 lab	06a49b1903
5:137206601 MYOT C>A	5	137206601	137206601	C	A	MYOT	c.261C>A	NM_006790.2	NP_006781.1:p.(Thr87=)	NC_000005.9:g.137206601C>A	(Likely) benign	1 lab	8b2cd5ea27
3:124458952 UMPS A>C	3	124458952	124458952	A	C	UMPS	c.1064A>C	NM_000373.4	NP_000364.1:p.(Gln355Pro)	NC_000003.11:g.124458952A>C	(Likely) pathogenic	1 lab	8b3118c802
3:33099682 GLB1 A>C	3	33099682	33099682	A	C	GLB1	c.632T>G	NM_000404.4	NP_000395.3:p.(Leu211Arg)	NC_000003.11:g.33099682A>C	VUS	1 lab	8b334850ed
2:179417580 TTN C>T	2	179417580	179417580	C	T	TTN	c.90047G>A	NM_001267550.2	NP_001254479.2:p.(Gly30016Glu)	NC_000002.11:g.179417580C>T	VUS	1 lab	8b34066afc
2:29295676 PCARE G>A	2	29295676	29295676	G	A	PCARE				NC_000002.11:g.29295676G>A	(Likely) benign	1 lab	8b35b34344
2:179403729 TTN A>G	2	179403729	179403729	A	G	TTN				NC_000002.11:g.179403729A>G	VUS	1 lab	8b39a04c48
9:140611140 EHMT1 G>A	9	140611140	140611140	G	A	EHMT1	c.148G>A	NM_024757.4	NP_079033.4:p.(Ala50Thr)	NC_000009.11:g.140611140G>A	(Likely) benign	1 lab	8b3cd9dd2d
1:216011361 USH2A T>C	1	216011361	216011361	T	C	USH2A				NC_000001.10:g.216011361T>C	(Likely) benign	1 lab	8b3e30bc40
4:77941690 SEPTIN11 C>T	4	77941690	77941690	C	T	SEPTIN11	c.850C>T	NM_001306147.1	NP_001293076.1:p.(Arg284Ter)	NC_000004.11:g.77941690C>T	VUS	1 lab	8b4d27429e
22:17663666 ADA2 ATGGTCTTCCATGGGGGATGGATGGGTC>A	22	17663666	17663722	ATGGTCTTCCATGGGGGATGGATGGGTC	A	ADA2	c.1082-42_1082-16del	NM_001282225.2	NP_001269154.1:p.?	NC_000022.10:g.17663696_17663722del	(Likely) benign	1 lab	06ac15e04a
7:114282645 FOXP2 G>A	7	114282645	114282645	G	A	FOXP2	c.956G>A	NM_014491.4	NP_055306.1:p.(Gly319Glu)	NC_000007.13:g.114282645G>A	VUS	1 lab	06aeadbe47
2:102000128 CREG2 TG>T	2	102000128	102000129	TG	T	CREG2	c.477del	NM_153836.3	NP_722578.1:p.(Ser160ValfsTer16)	NC_000002.11:g.102000129del	VUS	1 lab	8b4f00bb06
8:100515185 VPS13B A>G	8	100515185	100515185	A	G	VPS13B	c.4157+7A>G	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100515185A>G	(Likely) benign	1 lab	0d5b3f31c5
3:133483070 TF C>T	3	133483070	133483070	C	T	TF	c.1248C>T	NM_001063.4	NP_001054.2:p.(Tyr416=)	NC_000003.11:g.133483070C>T	(Likely) benign	1 lab	8b5215103f
12:122265531 SETD1B A>T	12	122265531	122265531	A	T	SETD1B	c.5444A>T	NM_001353345.2	NP_001340274.1:p.(Asp1815Val)	NC_000012.11:g.122265531A>T	(Likely) pathogenic	1 lab	8b5241e079
17:10545818 MYH3 G>C	17	10545818	10545818	G	C	MYH3	c.1804C>G	NM_002470.3	NP_002461.2:p.(Leu602Val)	NC_000017.10:g.10545818G>C	VUS	1 lab	8b5337f4a5
8:63978615 TTPA G>A	8	63978615	63978615	G	A	TTPA	c.400C>T	NM_000370.3	NP_000361.1:p.(Arg134Ter)	NC_000008.10:g.63978615G>A	(Likely) pathogenic	1 lab	8b54f5d865
2:145156798 ZEB2 G>C	2	145156798	145156798	G	C	ZEB2				NC_000002.11:g.145156798G>C	(Likely) pathogenic	1 lab	8b5ce45cc5
19:35793576 MAG G>A	19	35793576	35793576	G	A	MAG	c.1196G>A	NM_002361.3	NP_002352.1:p.(Gly399Asp)	NC_000019.9:g.35793576G>A	VUS	1 lab	8b5e55aa6a
6:157505376 ARID1B CAAG>C	6	157505376	157505382	CAAG	C	ARID1B				NC_000006.11:g.157505380_157505382del	VUS	1 lab	8b648fd4d7
3:39433037 SLC25A38 A>G	3	39433037	39433037	A	G	SLC25A38	c.382A>G	NM_017875.3	NP_060345.2:p.(Met128Val)	NC_000003.11:g.39433037A>G	(Likely) benign	1 lab	8b662e10e2
2:179414820 TTN G>T	2	179414820	179414820	G	T	TTN	c.91745C>A	NM_001267550.2	NP_001254479.2:p.(Thr30582Asn)	NC_000002.11:g.179414820G>T	VUS	1 lab	8b66944828
7:100218698 TFR2 G>A	7	100218698	100218698	G	A	TFR2	c.2188C>T	NM_003227.3	NP_003218.2:p.(Arg730Cys)	NC_000007.13:g.100218698G>A	(Likely) pathogenic	1 lab	8b6af92761
19:6713468 C3 G>A	19	6713468	6713468	G	A	C3	c.826C>T	NM_000064.4	NP_000055.2:p.(Gln276Ter)	NC_000019.9:g.6713468G>A	(Likely) pathogenic	1 lab	06afaa1776
17:59858264 BRIP1 C>T	17	59858264	59858264	C	T	BRIP1	c.1731G>A	NM_032043.3	NP_114432.2:p.(Lys577=)	NC_000017.10:g.59858264C>T	(Likely) benign	1 lab	8b6ea22b5b
8:55612050 RP1 A>T	8	55612050	55612050	A	T	RP1	c.1741A>T	NM_001375654.1	NP_001362583.1:p.(Lys581Ter)	NC_000008.10:g.55612050A>T	VUS	1 lab	8b6fcea7ff
2:48028084 MSH6 C>T	2	48028084	48028084	C	T	MSH6	c.2962C>T	NM_000179.3	NP_000170.1:p.(Arg988Cys)	NC_000002.11:g.48028084C>T	VUS	1 lab	8b70214ea4
4:187112676 CYP4V2 G>A	4	187112676	187112676	G	A	CYP4V2	c.-302G>A	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187112676G>A	(Likely) benign	1 lab	8b7047ee19
X:18622930 CDKL5 T>C	X	18622930	18622930	T	C	CDKL5	c.1886T>C	NM_001037343.1	NP_001032420.1:p.(Leu629Ser)	NC_000023.10:g.18622930T>C	VUS	1 lab	8b7061c835
10:75878792 VCL G>A	10	75878792	75878792	G	A	VCL	c.*865G>A	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75878792G>A	(Likely) benign	1 lab	8b759007fb
11:76916645 MYO7A G>A	11	76916645	76916645	G	A	MYO7A	c.5619G>A	NM_000260.3	NP_000251.3:p.(Arg1873=)	NC_000011.9:g.76916645G>A	(Likely) benign	1 lab	8b776fbfa6
12:6061675 VWF G>A	12	6061675	6061675	G	A	VWF	c.7997C>T	NM_000552.3	NP_000543.2:p.(Thr2666Met)	NC_000012.11:g.6061675G>A	(Likely) benign	1 lab	8b7819cf15
2:48982642 STON1-GTF2A1L G>A	2	48982642	48982642	G	A	STON1-GTF2A1L				NC_000002.11:g.48982642G>A	(Likely) benign	1 lab	8b793f9cae
2:167141193 SCN9A C>T	2	167141193	167141193	C	T	SCN9A	c.1744G>A	NM_001365536.1	NP_001352465.1:p.(Glu582Lys)	NC_000002.11:g.167141193C>T	VUS	1 lab	8b7af8291b
7:81799896 CACNA2D1 T>C	7	81799896	81799896	T	C	CACNA2D1	c.324A>G	NM_000722.2	NP_000713.2:p.(Gln108=)	NC_000007.13:g.81799896T>C	(Likely) benign	1 lab	8b7c579c77
7:47971528 PKD1L1 C>T	7	47971528	47971528	C	T	PKD1L1	c.519+5G>A	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47971528C>T	VUS	1 lab	8b7de3be9c
X:31341710 DMD C>T	X	31341710	31341710	C	T	DMD	c.9224+5G>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.31341710C>T	VUS	1 lab	8b7f3cfa0a
4:187192873 F11 T>C	4	187192873	187192873	T	C	F11	c.166T>C	NM_000128.4	NP_000119.1:p.(Cys56Arg)	NC_000004.11:g.187192873T>C	(Likely) pathogenic	1 lab	8b7f872215
2:179477172 TTN T>G	2	179477172	179477172	T	G	TTN	c.50080A>C	NM_001267550.2	NP_001254479.2:p.(Arg16694=)	NC_000002.11:g.179477172T>G	(Likely) benign	1 lab	8b7fdd0e82
9:131296106 GLE1 G>A	9	131296106	131296106	G	A	GLE1	c.1522G>A	NM_001003722.1	NP_001003722.1:p.(Gly508Arg)	NC_000009.11:g.131296106G>A	VUS	1 lab	8b855763fa
9:6592147 GLDC G>A	9	6592147	6592147	G	A	GLDC	c.1478C>T	NM_000170.2	NP_000161.2:p.(Ser493Phe)	NC_000009.11:g.6592147G>A	VUS	1 lab	8b89ea3a13
2:71192106 ATP6V1B1 C>A	2	71192106	71192106	C	A	ATP6V1B1	c.1397C>A	NM_001692.3	NP_001683.2:p.(Ser466Ter)	NC_000002.11:g.71192106C>A	(Likely) pathogenic	1 lab	8b9faa4713
19:36335086 NPHS1 G>T	19	36335086	36335086	G	T	NPHS1				NC_000019.9:g.36335086G>T	(Likely) pathogenic	1 lab	8ba10b4404
1:176903321 ASTN1 G>A	1	176903321	176903321	G	A	ASTN1	c.2638C>T	NM_004319.3	NP_004310.1:p.(Arg880Ter)	NC_000001.10:g.176903321G>A	VUS	1 lab	8ba238556b
5:112128170 APC G>T	5	112128170	112128170	G	T	APC	c.673G>T	NM_000038.5	NP_000029.2:p.(Glu225Ter)	NC_000005.9:g.112128170G>T	(Likely) pathogenic	1 lab	8ba2a4f7ee
2:149840187 KIF5C C>A	2	149840187	149840187	C	A	KIF5C	c.1623C>A	NM_004522.3	NP_004513.1:p.(Asn541Lys)	NC_000002.11:g.149840187C>A	VUS	1 lab	8ba2b486b2
2:166165724 SCN2A T>A	2	166165724	166165724	T	A	SCN2A	c.655T>A	NM_001040143.1	NP_001035233.1:p.(Phe219Ile)	NC_000002.11:g.166165724T>A	VUS	1 lab	8ba7865f76
19:5244413 PTPRS G>T	19	5244413	5244413	G	T	PTPRS	c.1069C>A	NM_002850.3	NP_002841.3:p.(Pro357Thr)	NC_000019.9:g.5244413G>T	VUS	1 lab	8ba7eb93dd
19:54627181 PRPF31 C>T	19	54627181	54627181	C	T	PRPF31	c.581C>T	NM_015629.3	NP_056444.3:p.(Ala194Val)	NC_000019.9:g.54627181C>T	VUS	1 lab	8bab4cb263
11:46742249 F2 T>C	11	46742249	46742249	T	C	F2	c.266-91T>C	NM_000506.3	NP_000497.1:p.?	NC_000011.9:g.46742249T>C	(Likely) benign	1 lab	8f52aea99a
5:149360570 SLC26A2 G>A	5	149360570	149360570	G	A	SLC26A2	c.1414G>A	NM_000112.4	NP_000103.2:p.(Ala472Thr)	NC_000005.9:g.149360570G>A	VUS	1 lab	8baba0f8fc
19:38990346 RYR1 G>A	19	38990346	38990346	G	A	RYR1	c.7099G>A	NM_000540.2	NP_000531.2:p.(Ala2367Thr)	NC_000019.9:g.38990346G>A	VUS	1 lab	8bad2659b5
5:90368409 ADGRV1 A>C	5	90368409	90368409	A	C	ADGRV1	c.18298A>C	NM_032119.3	NP_115495.3:p.(Thr6100Pro)	NC_000005.9:g.90368409A>C	VUS	1 lab	8bad72d220
X:32490309 DMD A>T	X	32490309	32490309	A	T	DMD	c.2921T>A	NM_004006.2	NP_003997.1:p.(Ile974Asn)	NC_000023.10:g.32490309A>T	VUS	1 lab	8bae09295b
3:32932140 TRIM71 G>T	3	32932140	32932140	G	T	TRIM71	c.1444G>T	NM_001039111.3	NP_001034200.1:p.(Ala482Ser)	NC_000003.11:g.32932140G>T	VUS	1 lab	8bb49dae75
1:215987141 USH2A G>A	1	215987141	215987141	G	A	USH2A	c.9676C>T	NM_206933.2	NP_996816.2:p.(Arg3226Ter)	NC_000001.10:g.215987141G>A	(Likely) pathogenic	1 lab	8bb4c4a0f1
7:91667902 AKAP9 T>C	7	91667902	91667902	T	C	AKAP9	c.4508T>C	NM_005751.4	NP_005742.4:p.(Phe1503Ser)	NC_000007.13:g.91667902T>C	(Likely) benign	1 lab	8bb54ad37a
2:128180687 PROC G>C	2	128180687	128180687	G	C	PROC	c.340G>C	NM_000312.4	NP_000303.1:p.(Gly114Arg)	NC_000002.11:g.128180687G>C	VUS	1 lab	8bb5acc5ce
19:42752651 ERF G>A	19	42752651	42752651	G	A	ERF				NC_000019.9:g.42752651G>A	VUS	1 lab	8bb5ff05c3
19:38974070 RYR1 G>A	19	38974070	38974070	G	A	RYR1	c.4848G>A	NM_000540.2	NP_000531.2:p.(Thr1616=)	NC_000019.9:g.38974070G>A	(Likely) benign	1 lab	8bb6282398
6:152737569 SYNE1 AG>A	6	152737569	152737570	AG	A	SYNE1	c.6002del	NM_182961.4	NP_892006.3:p.(Thr2001MetfsTer6)	NC_000006.11:g.152737570del	(Likely) pathogenic	1 lab	06b2026201
1:154544386 CHRNB2 C>T	1	154544386	154544386	C	T	CHRNB2	c.1087C>T	NM_000748.3	NP_000739.1:p.(Leu363=)	NC_000001.10:g.154544386C>T	(Likely) benign	1 lab	0d5f549ded
10:89692904 PTEN C>G	10	89692904	89692904	C	G	PTEN	c.388C>G	NM_000314.4	NP_000305.3:p.(Arg130Gly)	NC_000010.10:g.89692904C>G	(Likely) pathogenic	1 lab	8bb970fd4b
X:38145411 RPGR CT>C	X	38145411	38145412	CT	C	RPGR	c.2840del	NM_001034853.1	NP_001030025.1:p.(Glu947GlyfsTer142)	NC_000023.10:g.38145412del	(Likely) pathogenic	1 lab	8bb98b5847
15:51828462 DMXL2 T>C	15	51828462	51828462	T	C	DMXL2	c.2215A>G	NM_001174116.3	NP_001167587.1:p.(Thr739Ala)	NC_000015.9:g.51828462T>C	VUS	1 lab	06b3013915
1:24194533 FUCA1 G>A	1	24194533	24194533	G	A	FUCA1	c.244C>T	NM_000147.4	NP_000138.2:p.(Gln82Ter)	NC_000001.10:g.24194533G>A	(Likely) pathogenic	1 lab	8bbc4f7c05
10:89725042 PTEN A>G	10	89725042	89725042	A	G	PTEN	c.1027-2A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89725042A>G	(Likely) pathogenic	1 lab	8bbd3dd77f
17:59934555 BRIP1 T>C	17	59934555	59934555	T	C	BRIP1	c.243A>G	NM_032043.2	NP_114432.2:p.(Glu81=)	NC_000017.10:g.59934555T>C	VUS	1 lab	8bbd71a648
2:179542405 TTN C>G	2	179542405	179542405	C	G	TTN	c.34234G>C	NM_001267550.2	NP_001254479.2:p.(Val11412Leu)	NC_000002.11:g.179542405C>G	(Likely) benign	1 lab	8bbece1d02
8:103663707 KLF10 C>T	8	103663707	103663707	C	T	KLF10	c.853G>A	NM_005655.3	NP_005646.1:p.(Val285Ile)	NC_000008.10:g.103663707C>T	(Likely) benign	1 lab	8bbef9bfe1
3:38805120 SCN10A A>C	3	38805120	38805120	A	C	SCN10A	c.600-33T>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38805120A>C	(Likely) benign	1 lab	8bc3891e2a
18:19427017 MIB1 C>T	18	19427017	19427017	C	T	MIB1	c.2324C>T	NM_020774.3	NP_065825.1:p.(Ser775Leu)	NC_000018.9:g.19427017C>T	(Likely) benign	1 lab	8bd043148b
7:91722589 AKAP9 C>G	7	91722589	91722589	C	G	AKAP9	c.9537C>G	NM_005751.4	NP_005742.4:p.(Leu3179=)	NC_000007.13:g.91722589C>G	(Likely) benign	1 lab	8bd496615c
19:54627890 PRPF31 G>A	19	54627890	54627890	G	A	PRPF31	c.710G>A	NM_015629.4	NP_056444.3:p.(Gly237Asp)	NC_000019.9:g.54627890G>A	VUS	1 lab	06bf827fe0
X:107811987 COL4A5 A>G	X	107811987	107811987	A	G	COL4A5	c.322-2A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107811987A>G	(Likely) pathogenic	1 lab	8be2726122
19:40872803 PLD3 C>G	19	40872803	40872803	C	G	PLD3	c.226C>G	NM_012268.4	NP_036400.2:p.(Pro76Ala)	NC_000019.9:g.40872803C>G	(Likely) benign	1 lab	06c980acc0
1:11206821 MTOR G>T	1	11206821	11206821	G	T	MTOR	c.4598C>A	NM_004958.3	NP_004949.1:p.(Thr1533Asn)	NC_000001.10:g.11206821G>T	(Likely) benign	1 lab	8be574e64a
3:178919256 PIK3CA G>C	3	178919256	178919256	G	C	PIK3CA	c.741G>C	NM_006218.2	NP_006209.2:p.(Gln247His)	NC_000003.11:g.178919256G>C	VUS	1 lab	8be63ef3f3
15:73615406 HCN4 C>A	15	73615406	73615406	C	A	HCN4	c.3028G>T	NM_005477.3	NP_005468.1:p.(Ala1010Ser)	NC_000015.9:g.73615406C>A	VUS	1 lab	8beda7c286
10:121429544 BAG3 G>A	10	121429544	121429544	G	A	BAG3	c.362G>A	NM_004281.4	NP_004272.2:p.(Arg121Gln)	NC_000010.10:g.121429544G>A	VUS	1 lab	8bef627690
12:52174446 SCN8A G>A	12	52174446	52174446	G	A	SCN8A	c.3833G>A	NM_014191.4	NP_055006.1:p.(Ser1278Asn)	NC_000012.11:g.52174446G>A	(Likely) benign	1 lab	8bf1ac179f
13:111164503 COL4A2 A>G	13	111164503	111164503	A	G	COL4A2	c.5104A>G	NM_001846.4	NP_001837.2:p.(Ile1702Val)	NC_000013.10:g.111164503A>G	VUS	1 lab	06d16cc0e1
3:39230439 XIRP1 G>A	3	39230439	39230439	G	A	XIRP1	c.498C>T	NM_194293.4	NP_919269.2:p.(Asp166=)	NC_000003.11:g.39230439G>A	(Likely) benign	1 lab	0d609cc5c8
15:89416217 ACAN T>G	15	89416217	89416217	T	G	ACAN	c.7294T>G	NM_013227.3	NP_037359.3:p.(Cys2432Gly)	NC_000015.9:g.89416217T>G	VUS	1 lab	8bfb9dca31
17:54926517 DGKE G>GT	17	54926517	54926525	G	GT	DGKE	c.1047-17dup	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54926525dup	(Likely) benign	1 lab	8bfc085deb
7:128492746 FLNC C>T	7	128492746	128492746	C	T	FLNC				NC_000007.13:g.128492746C>T	VUS	1 lab	8c0070602d
7:128494231 FLNC C>T	7	128494231	128494231	C	T	FLNC	c.6688C>T	NM_001458.5	NP_001449.3:p.(Arg2230Cys)	NC_000007.13:g.128494231C>T	VUS	1 lab	8c01379736
20:18122927 PET117 C>T	20	18122927	18122927	C	T	PET117	c.172C>T	NM_001164811.1	NP_001158283.1:p.(Gln58Ter)	NC_000020.10:g.18122927C>T	(Likely) pathogenic	1 lab	8c04f0def9
7:6017190 PMS2 G>A	7	6017190	6017190	G	A	PMS2	c.2445+29C>T	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6017190G>A	(Likely) benign	1 lab	8c0586fc31
6:65300516 EYS T>G	6	65300516	65300516	T	G	EYS	c.5244A>C	NM_001142800.1	NP_001136272.1:p.(Leu1748Phe)	NC_000006.11:g.65300516T>G	(Likely) benign	1 lab	8c08f81801
2:27276762 AGBL5 A>G	2	27276762	27276762	A	G	AGBL5	c.388-2A>G	NM_021831.6	NP_068603.4:p.?	NC_000002.11:g.27276762A>G	(Likely) pathogenic	1 lab	8c0919f68c
19:49691870 TRPM4 C>T	19	49691870	49691870	C	T	TRPM4	c.1744-28C>T	NM_017636.3	NP_060106.2:p.?	NC_000019.9:g.49691870C>T	(Likely) benign	1 lab	8c0a5be35c
2:32475600 NLRC4 A>G	2	32475600	32475600	A	G	NLRC4	c.1333T>C	NM_021209.4	NP_067032.3:p.(Ser445Pro)	NC_000002.11:g.32475600A>G	(Likely) pathogenic	1 lab	8c0e8314ae
11:2868878 KCNQ1 T>C	11	2868878	2868878	T	C	KCNQ1	c.1795-119T>C	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2868878T>C	(Likely) benign	1 lab	8c0ed45d0f
21:36252849 RUNX1 C>T	21	36252849	36252849	C	T	RUNX1	c.508+5G>A	NM_001754.4	NP_001745.2:p.?	NC_000021.8:g.36252849C>T	VUS	1 lab	8c0fbffe15
6:76624564 MYO6 TG>T	6	76624564	76624565	TG	T	MYO6	c.3694del	NM_004999.3	NP_004990.3:p.(Glu1232ArgfsTer5)	NC_000006.11:g.76624565del	(Likely) pathogenic	1 lab	8c1433b202
5:37164434 CPLANE1 A>G	5	37164434	37164434	A	G	CPLANE1	c.7534-5T>C	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37164434A>G	(Likely) benign	1 lab	0d61677e39
22:29115468 CHEK2 C>T	22	29115468	29115468	C	T	CHEK2	c.598G>A	NM_007194.4	NP_009125.1:p.(Val200Ile)	NC_000022.10:g.29115468C>T	(Likely) benign	1 lab	8c1560a71c
10:75802856 VCL G>A	10	75802856	75802856	G	A	VCL	c.184G>A	NM_014000.3	NP_054706.1:p.(Val62Ile)	NC_000010.10:g.75802856G>A	VUS	1 lab	8c160ae448
17:41607297 ETV4 G>A	17	41607297	41607297	G	A	ETV4	c.910C>T	NM_001986.2	NP_001977.1:p.(Arg304Ter)	NC_000017.10:g.41607297G>A	VUS	1 lab	8c18bfce90
21:47540454 COL6A2 G>A	21	47540454	47540454	G	A	COL6A2	c.1358G>A	NM_001849.3	NP_001840.3:p.(Arg453His)	NC_000021.8:g.47540454G>A	VUS	1 lab	8c18e36ec9
10:89720649 PTEN A>T	10	89720649	89720649	A	T	PTEN	c.802-2A>T	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89720649A>T	(Likely) pathogenic	1 lab	8c1a5db09a
10:123237966 FGFR2 C>T	10	123237966	123237966	C	T	FGFR2	c.*1405G>A	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123237966C>T	(Likely) benign	1 lab	8c1a95f54f
1:201328267 TNNT2 G>A	1	201328267	201328267	G	A	TNNT2	c.*71C>T	NM_001001430.3	NP_001001430.1:p.?	NC_000001.10:g.201328267G>A	(Likely) benign	1 lab	8c1c71cae8
1:196706761 CFH G>A	1	196706761	196706761	G	A	CFH	c.2753G>A	NM_000186.4	NP_000177.2:p.(Gly918Glu)	NC_000001.10:g.196706761G>A	VUS	1 lab	8c1d8137fe
11:89774197 TRIM49C CTT>C	11	89774197	89774214	CTT	C	TRIM49C	c.860-6_860-5del	NM_001195234.1	NP_001182163.1:p.?	NC_000011.9:g.89774213_89774214del	(Likely) benign	1 lab	0d61a8ea27
X:100653088 GLA C>CA	X	100653088	100653089	C	CA	GLA	c.1000-2_1000-1insT	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653088_100653089insA	(Likely) pathogenic	1 lab	8c21fc7ad6
7:151372600 PRKAG2 G>C	7	151372600	151372600	G	C	PRKAG2	c.590C>G	NM_016203.3	NP_057287.2:p.(Pro197Arg)	NC_000007.13:g.151372600G>C	VUS	1 lab	8c25b4da14
22:37480797 TMPRSS6 C>T	22	37480797	37480797	C	T	TMPRSS6	c.1083G>A	NM_153609.3	NP_705837.1:p.(Ser361=)	NC_000022.10:g.37480797C>T	(Likely) benign	1 lab	8c2ac94bd7
3:8775620 CAV3 A>C	3	8775620	8775620	A	C	CAV3				NC_000003.11:g.8775620A>C	VUS	1 lab	8c2e371364
11:76925641 MYO7A C>T	11	76925641	76925641	C	T	MYO7A	c.6559-11C>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76925641C>T	(Likely) benign	1 lab	8c3383f7af
12:52183111 SCN8A A>G	12	52183111	52183111	A	G	SCN8A	c.4328A>G	NM_014191.3	NP_055006.1:p.(Tyr1443Cys)	NC_000012.11:g.52183111A>G	(Likely) pathogenic	1 lab	8c349b0c32
2:167085210 SCN9A C>T	2	167085210	167085210	C	T	SCN9A	c.4164G>A	NM_002977.3	NP_002968.1:p.(Leu1388=)	NC_000002.11:g.167085210C>T	(Likely) benign	1 lab	8c3894ba5c
4:113574409 LARP7 G>A	4	113574409	113574409	G	A	LARP7	c.1597+17G>A	NM_001267039.2	NP_001253968.1:p.?	NC_000004.11:g.113574409G>A	(Likely) benign	1 lab	06d311ef42
10:55588323 PCDH15 A>C	10	55588323	55588323	A	C	PCDH15	c.4211+2T>G	NM_033056.3	NP_149045.3:p.?	NC_000010.10:g.55588323A>C	(Likely) pathogenic	1 lab	8c3a8171d3
1:108023589 NTNG1 A>C	1	108023589	108023589	A	C	NTNG1	c.*127A>C	NM_001113226.1	NP_001106697.1:p.?	NC_000001.10:g.108023589A>C	(Likely) benign	1 lab	8c3d3c716a
2:32361652 SPAST G>C	2	32361652	32361652	G	C	SPAST	c.1266G>C	NM_014946.3	NP_055761.2:p.(Leu422Phe)	NC_000002.11:g.32361652G>C	(Likely) pathogenic	1 lab	8c3d9e9ea0
6:42975704 PPP2R5D G>A	6	42975704	42975704	G	A	PPP2R5D	c.758G>A	NM_006245.4	NP_006236.1:p.(Arg253Gln)	NC_000006.11:g.42975704G>A	VUS	1 lab	8c45381461
7:150654622 KCNH2 A>AG	7	150654622	150654623	A	AG	KCNH2	c.917-33dup	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150654623dup	(Likely) benign	1 lab	8c4b068211
19:50713686 MYH14 G>A	19	50713686	50713686	G	A	MYH14	c.64G>A	NM_001145809.1	NP_001139281.1:p.(Glu22Lys)	NC_000019.9:g.50713686G>A	VUS	1 lab	8c4f503962
7:128493825 FLNC C>T	7	128493825	128493825	C	T	FLNC	c.6418C>T	NM_001458.5	NP_001449.3:p.(Arg2140Trp)	NC_000007.13:g.128493825C>T	VUS	1 lab	06d41d0180
2:230652322 TRIP12 C>G	2	230652322	230652322	C	G	TRIP12	c.4813G>C	NM_001284214.1	NP_001271143.1:p.(Asp1605His)	NC_000002.11:g.230652322C>G	VUS	1 lab	8c5892c99e
1:216246300 USH2A G>A	1	216246300	216246300	G	A	USH2A	c.5788C>T	NM_206933.4	NP_996816.3:p.(Arg1930Ter)	NC_000001.10:g.216246300G>A	(Likely) pathogenic	1 lab	8c5a5e0715
X:122802158 THOC2 G>A	X	122802158	122802158	G	A	THOC2	c.869C>T	NM_001081550.2	NP_001075019.1:p.(Pro290Leu)	NC_000023.10:g.122802158G>A	VUS	1 lab	8c5f5003c5
1:156105609 LMNA G>T	1	156105609	156105609	G	T	LMNA	c.937-83G>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105609G>T	(Likely) benign	1 lab	8c687767fa
1:43394924 SLC2A1 G>A	1	43394924	43394924	G	A	SLC2A1	c.929C>T	NM_006516.2	NP_006507.2:p.(Thr310Ile)	NC_000001.10:g.43394924G>A	(Likely) pathogenic	1 lab	8c69492f3f
17:33433453 RAD51D G>A	17	33433453	33433453	G	A	RAD51D	c.528C>T	NM_002878.4	NP_002869.3:p.(Phe176=)	NC_000017.10:g.33433453G>A	(Likely) benign	1 lab	8c6d1c3caa
5:92924104 NR2F1 C>A	5	92924104	92924104	C	A	NR2F1	c.945C>A	NM_005654.6	NP_005645.1:p.(Asp315Glu)	NC_000005.9:g.92924104C>A	VUS	1 lab	06da7e8877
4:15483004 CC2D2A G>A	4	15483004	15483004	G	A	CC2D2A	c.*168G>A	NM_020785.2	NP_065836.2:p.?	NC_000004.11:g.15483004G>A	(Likely) benign	1 lab	0db9a5a1f9
7:155595838 SHH A>G	7	155595838	155595838	A	G	SHH	c.1145T>C	NM_000193.2	NP_000184.1:p.(Leu382Pro)	NC_000007.13:g.155595838A>G	(Likely) pathogenic	1 lab	8c6f993340
16:88786073 PIEZO1 G>A	16	88786073	88786073	G	A	PIEZO1				NC_000016.9:g.88786073G>A	(Likely) pathogenic	1 lab	8c7898f206
3:48610163 COL7A1 C>T	3	48610163	48610163	C	T	COL7A1				NC_000003.11:g.48610163C>T	(Likely) pathogenic	1 lab	8c7988c76f
10:73553178 CDH23 G>A	10	73553178	73553178	G	A	CDH23	c.6493G>A	NM_022124.5	NP_071407.4:p.(Asp2165Asn)	NC_000010.10:g.73553178G>A	VUS	1 lab	8c7bfad341
6:152708204 SYNE1 A>G	6	152708204	152708204	A	G	SYNE1	c.8487+3T>C	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152708204A>G	(Likely) benign	1 lab	8c7d1fc0b7
17:27580667 CRYBA1 G>A	17	27580667	27580667	G	A	CRYBA1				NC_000017.10:g.27580667G>A	VUS	1 lab	8c7d90d0bd
10:77191441 LRMDA C>A	10	77191441	77191441	C	A	LRMDA	c.-42C>A	NM_001305581.1	NP_001292510.1:p.?	NC_000010.10:g.77191441C>A	(Likely) benign	1 lab	8c7faf80d1
6:6224943 F13A1 C>A	6	6224943	6224943	C	A	F13A1				NC_000006.11:g.6224943C>A	(Likely) pathogenic	1 lab	8c80ea47a6
11:62398276 GANAB C>T	11	62398276	62398276	C	T	GANAB	c.1249G>A	NM_198335.4	NP_938149.2:p.(Gly417Ser)	NC_000011.9:g.62398276C>T	VUS	1 lab	06db9aa36c
18:25582983 CDH2 A>G	18	25582983	25582983	A	G	CDH2	c.998T>C	NM_001792.5	NP_001783.2:p.(Val333Ala)	NC_000018.9:g.25582983A>G	VUS	1 lab	06dd096fcf
2:227954674 COL4A4 C>T	2	227954674	227954674	C	T	COL4A4	c.1370-1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227954674C>T	(Likely) pathogenic	1 lab	8c882ac758
X:46736983 RP2 A>G	X	46736983	46736983	A	G	RP2	c.927A>G	NM_006915.2	NP_008846.2:p.(Glu309=)	NC_000023.10:g.46736983A>G	VUS	1 lab	8c8908e57f
4:15602936 CC2D2A A>C	4	15602936	15602936	A	C	CC2D2A	c.4751A>C	NM_001080522.2	NP_001073991.2:p.(His1584Pro)	NC_000004.11:g.15602936A>C	VUS	1 lab	8c89d0d11b
11:71148914 DHCR7 C>T	11	71148914	71148914	C	T	DHCR7	c.907G>A	NM_001360.2	NP_001351.2:p.(Gly303Arg)	NC_000011.9:g.71148914C>T	(Likely) pathogenic	1 lab	8c89deb1e6
2:167266247 SCN7A C>T	2	167266247	167266247	C	T	SCN7A	c.3910G>A	NM_002976.4	NP_002967.2:p.(Ala1304Thr)	NC_000002.11:g.167266247C>T	(Likely) benign	1 lab	8c8bf9e0df
13:32890560 BRCA2 C>G	13	32890560	32890560	C	G	BRCA2	c.-38C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890560C>G	(Likely) benign	1 lab	8c8e0ab649
2:167163094 SCN9A G>A	2	167163094	167163094	G	A	SCN9A	c.393C>T	NM_002977.3	NP_002968.1:p.(Leu131=)	NC_000002.11:g.167163094G>A	(Likely) benign	1 lab	8c8f0add8d
18:32395905 DTNA G>T	18	32395905	32395905	G	T	DTNA	c.636G>T	NM_001390.4	NP_001381.2:p.(Thr212=)	NC_000018.9:g.32395905G>T	(Likely) benign	1 lab	8c8f547022
2:179428086 TTN C>T	2	179428086	179428086	C	T	TTN	c.82773G>A	NM_001267550.2	NP_001254479.2:p.(Trp27591Ter)	NC_000002.11:g.179428086C>T	(Likely) pathogenic	1 lab	06deb3fe74
2:48032906 MSH6 CTA>C	2	48032906	48032909	CTA	C	MSH6	c.3646+62_3646+63del	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48032908_48032909del	(Likely) benign	1 lab	8c94400f38
2:48026126 MSH6 A>G	2	48026126	48026126	A	G	MSH6	c.1004A>G	NM_000179.2	NP_000170.1:p.(Asn335Ser)	NC_000002.11:g.48026126A>G	(Likely) benign	1 lab	8c984f9a7f
9:35792754 NPR2 C>T	9	35792754	35792754	C	T	NPR2	c.349C>T	NM_003995.3	NP_003986.2:p.(Leu117Phe)	NC_000009.11:g.35792754C>T	(Likely) benign	1 lab	8c99267b1f
19:11138567 SMARCA4 T>C	19	11138567	11138567	T	C	SMARCA4	c.3323T>C	NM_001128849.1	NP_001122321.1:p.(Leu1108Pro)	NC_000019.9:g.11138567T>C	(Likely) pathogenic	1 lab	8c99671670
17:39768734 KRT16 G>T	17	39768734	39768734	G	T	KRT16	c.207C>A	NM_005557.4	NP_005548.2:p.(Gly69=)	NC_000017.10:g.39768734G>T	(Likely) benign	1 lab	06e000bfe3
12:100928707 NR1H4 GA>G	12	100928707	100928713	GA	G	NR1H4	c.644del	NM_001206977.2	NP_001193906.1:p.(Asn215MetfsTer2)	NC_000012.11:g.100928713del	(Likely) pathogenic	1 lab	06e36e3a42
1:94467407 ABCA4 C>T	1	94467407	94467407	C	T	ABCA4	c.6282+7G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94467407C>T	(Likely) benign	1 lab	8ca2e14a12
3:38674745 SCN5A C>T	3	38674745	38674745	C	T	SCN5A	c.54G>A	NM_198056.2	NP_932173.1:p.(Arg18=)	NC_000003.11:g.38674745C>T	(Likely) benign	1 lab	8ca4e24bae
1:237890461 RYR2 AGC>CTT	1	237890461	237890463	AGC	CTT	RYR2	c.10800_10802delinsCTT	NM_001035.2	NP_001026.2:p.(Ala3601Phe)	NC_000001.10:g.237890461_237890463delinsCTT	(Likely) benign	1 lab	8ca4ef2f5a
15:85401549 ALPK3 C>T	15	85401549	85401549	C	T	ALPK3	c.4186C>T	NM_020778.4	NP_065829.3:p.(Arg1396Trp)	NC_000015.9:g.85401549C>T	(Likely) benign	1 lab	8ca7a5b6d2
6:76576781 MYO6 G>A	6	76576781	76576781	G	A	MYO6	c.1903G>A	NM_004999.3	NP_004990.3:p.(Ala635Thr)	NC_000006.11:g.76576781G>A	(Likely) benign	1 lab	8caaf097d8
13:20763164 GJB2 G>T	13	20763164	20763164	G	T	GJB2	c.557C>A	NM_004004.5	NP_003995.2:p.(Thr186Lys)	NC_000013.10:g.20763164G>T	VUS	1 lab	8caec74468
3:191078925 CCDC50 C>T	3	191078925	191078925	C	T	CCDC50	c.307C>T	NM_178335.2	NP_848018.1:p.(Arg103Cys)	NC_000003.11:g.191078925C>T	(Likely) benign	1 lab	8cb14b71ad
3:14193926 XPC C>T	3	14193926	14193926	C	T	XPC	c.2034-10G>A	NM_004628.5	NP_004619.3:p.?	NC_000003.11:g.14193926C>T	(Likely) pathogenic	1 lab	8cb20b7e39
3:52442494 BAP1 T>G	3	52442494	52442494	T	G	BAP1	c.251A>C	NM_004656.4	NP_004647.1:p.(His84Pro)	NC_000003.11:g.52442494T>G	VUS	1 lab	06e47e52fc
1:156084800 LMNA GAGA>G	1	156084800	156084805	GAGA	G	LMNA	c.94_96del	NM_170707.4	NP_733821.1:p.(Lys32del)	NC_000001.10:g.156084803_156084805del	(Likely) pathogenic	1 lab	8cb7598377
11:62297575 AHNAK T>G	11	62297575	62297575	T	G	AHNAK	c.4314A>C	NM_001620.3	NP_001611.1:p.(Lys1438Asn)	NC_000011.9:g.62297575T>G	VUS	1 lab	06e70f47a2
15:42682309 CAPN3 G>A	15	42682309	42682309	G	A	CAPN3	c.945+15G>A	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42682309G>A	(Likely) benign	1 lab	0d65433b0b
17:80765526 TBCD G>A	17	80765526	80765526	G	A	TBCD	c.1130G>A	NM_005993.4	NP_005984.3:p.(Arg377Gln)	NC_000017.10:g.80765526G>A	VUS	1 lab	8cc0d05f15
12:112888312 PTPN11 G>A	12	112888312	112888312	G	A	PTPN11	c.328G>A	NM_002834.3	NP_002825.3:p.(Glu110Lys)	NC_000012.11:g.112888312G>A	(Likely) pathogenic	1 lab	8cc18c3ec1
16:28498823 CLN3 GC>G	16	28498823	28498824	GC	G	CLN3	c.413del	NM_001042432.1	NP_001035897.1:p.(Ser138ThrfsTer43)	NC_000016.9:g.28498824del	(Likely) pathogenic	1 lab	8cc1e507be
2:152695481 CACNB4 AT>A	2	152695481	152695492	AT	A	CACNB4	c.*151del	NM_000726.5	NP_000717.2:p.?	NC_000002.11:g.152695492del	(Likely) benign	1 lab	0d67332662
12:114832510 TBX5 C>A	12	114832510	114832510	C	A	TBX5	c.663+36G>T	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114832510C>A	(Likely) benign	1 lab	8cc32dc964
12:88462402 CEP290 C>T	12	88462402	88462402	C	T	CEP290	c.6032G>A	NM_025114.3	NP_079390.3:p.(Arg2011Gln)	NC_000012.11:g.88462402C>T	VUS	1 lab	8cc42d2428
19:38934256 RYR1 A>G	19	38934256	38934256	A	G	RYR1	c.329A>G	NM_000540.2	NP_000531.2:p.(His110Arg)	NC_000019.9:g.38934256A>G	VUS	1 lab	8cc483a6d1
1:29320013 EPB41 G>A	1	29320013	29320013	G	A	EPB41	c.13G>A	NM_203342.2	NP_976217.1:p.(Val5Ile)	NC_000001.10:g.29320013G>A	(Likely) benign	1 lab	0d6da1b69e
17:3563284 CTNS G>A	17	3563284	3563284	G	A	CTNS	c.970+15G>A	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3563284G>A	(Likely) benign	1 lab	102b5316fc
1:17371221 SDHB C>T	1	17371221	17371221	C	T	SDHB	c.200+35G>A	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17371221C>T	(Likely) benign	1 lab	8cc77653c3
19:54627232 PRPF31 G>A	19	54627232	54627232	G	A	PRPF31	c.632G>A	NM_015629.3	NP_056444.3:p.(Arg211Gln)	NC_000019.9:g.54627232G>A	VUS	1 lab	8cc785be35
15:89868760 POLG C>T	15	89868760	89868760	C	T	POLG	c.1870G>A	NM_002693.2	NP_002684.1:p.(Val624Met)	NC_000015.9:g.89868760C>T	VUS	1 lab	8cc8f3b74d
4:114276406 ANK2 C>T	4	114276406	114276406	C	T	ANK2	c.6632C>T	NM_001148.5	NP_001139.3:p.(Ala2211Val)	NC_000004.11:g.114276406C>T	(Likely) benign	1 lab	8cc8fa6841
11:76900397 MYO7A T>C	11	76900397	76900397	T	C	MYO7A	c.3512T>C	NM_000260.4	NP_000251.3:p.(Ile1171Thr)	NC_000011.9:g.76900397T>C	VUS	1 lab	8cc9bf38fe
13:32899219 BRCA2 A>G	13	32899219	32899219	A	G	BRCA2	c.323A>G	NM_000059.3	NP_000050.2:p.(Asn108Ser)	NC_000013.10:g.32899219A>G	(Likely) benign	1 lab	8ccc2c83de
6:129785561 LAMA2 G>A	6	129785561	129785561	G	A	LAMA2	c.7119G>A	NM_000426.3	NP_000417.2:p.(Ser2373=)	NC_000006.11:g.129785561G>A	VUS	1 lab	8cce7903d2
3:49070139 QRICH1 TTGTC>T	3	49070139	49070147	TTGTC	T	QRICH1	c.1959_1962del	NM_017730.3	NP_060200.2:p.(Thr654ArgfsTer17)	NC_000003.11:g.49070144_49070147del	(Likely) pathogenic	1 lab	8cd18a651d
7:151174492 RHEB A>G	7	151174492	151174492	A	G	RHEB	c.202T>C	NM_005614.3	NP_005605.1:p.(Ser68Pro)	NC_000007.13:g.151174492A>G	VUS	1 lab	8cd666f865
4:110662042 CFI C>A	4	110662042	110662042	C	A	CFI	c.*7G>T	NM_000204.4	NP_000195.2:p.?	NC_000004.11:g.110662042C>A	(Likely) benign	1 lab	8cd77a8130
10:64943215 JMJD1C G>C	10	64943215	64943215	G	C	JMJD1C				NC_000010.10:g.64943215G>C	VUS	1 lab	8cd8beff27
21:47532345 COL6A2 G>A	21	47532345	47532345	G	A	COL6A2	c.568G>A	NM_001849.4	NP_001840.3:p.(Val190Met)	NC_000021.8:g.47532345G>A	VUS	1 lab	06e8e52b2b
1:17313105 ATP13A2 C>T	1	17313105	17313105	C	T	ATP13A2	c.3258G>A	NM_022089.4	NP_071372.1:p.(Ala1086=)	NC_000001.10:g.17313105C>T	(Likely) benign	1 lab	06f027d021
20:49520533 ADNP T>C	20	49520533	49520533	T	C	ADNP	c.1A>G	NM_001282531.1	NP_001269460.1:p.(Met1?)	NC_000020.10:g.49520533T>C	(Likely) pathogenic	1 lab	8cdf43510e
20:3063669 AVP G>T	20	3063669	3063669	G	T	AVP	c.276C>A	NM_000490.4	NP_000481.2:p.(Cys92Ter)	NC_000020.10:g.3063669G>T	(Likely) pathogenic	1 lab	8cdfcbf020
4:88536640 DSPP TG>T	4	88536640	88536641	TG	T	DSPP	c.2827del	NM_014208.3	NP_055023.2:p.(Asp943ThrfsTer371)	NC_000004.11:g.88536641del	(Likely) pathogenic	1 lab	8cdfd5a86e
1:118644430 SPAG17 A>G	1	118644430	118644430	A	G	SPAG17	c.567T>C	NM_206996.4	NP_996879.1:p.(Asn189=)	NC_000001.10:g.118644430A>G	(Likely) benign	1 lab	8ceb9e7e01
21:47406974 COL6A1 C>T	21	47406974	47406974	C	T	COL6A1	c.705C>T	NM_001848.2	NP_001839.2:p.(Ile235=)	NC_000021.8:g.47406974C>T	(Likely) benign	1 lab	8cecf53b02
5:112175921 APC G>T	5	112175921	112175921	G	T	APC	c.4630G>T	NM_000038.6	NP_000029.2:p.(Glu1544Ter)	NC_000005.9:g.112175921G>T	(Likely) pathogenic	1 lab	8cee84eeff
14:24731001 TGM1 G>GTACTCATACT	14	24731001	24731011	G	GTACTCATACT	TGM1	c.398_407dup	NM_000359.2	NP_000350.1:p.(Tyr136Ter)	NC_000014.8:g.24731002_24731011dup	(Likely) pathogenic	1 lab	8cf022780b
6:36274153 PNPLA1 C>T	6	36274153	36274153	C	T	PNPLA1	c.1469C>T	NM_001145717.1	NP_001139189.2:p.(Thr490Met)	NC_000006.11:g.36274153C>T	(Likely) benign	1 lab	8cf2db8c41
7:117188812 CFTR G>T	7	117188812	117188812	G	T	CFTR	c.1327G>T	NM_000492.3	NP_000483.3:p.(Asp443Tyr)	NC_000007.13:g.117188812G>T	VUS	1 lab	8cf529ac24
2:172709215 SLC25A12 G>C	2	172709215	172709215	G	C	SLC25A12	c.325+3129C>G	NM_003705.5	NP_003696.2:p.?	NC_000002.11:g.172709215G>C	(Likely) benign	1 lab	06f2134d3b
11:86662237 FZD4 T>C	11	86662237	86662237	T	C	FZD4	c.1561A>G	NM_012193.3	NP_036325.2:p.(Lys521Glu)	NC_000011.9:g.86662237T>C	VUS	1 lab	8cf5d9d3fa
10:75842215 VCL A>T	10	75842215	75842215	A	T	VCL	c.787A>T	NM_014000.3	NP_054706.1:p.(Thr263Ser)	NC_000010.10:g.75842215A>T	(Likely) benign	1 lab	06f3fb22c6
11:108138078 ATM A>G	11	108138078	108138078	A	G	ATM	c.2638+9A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108138078A>G	(Likely) benign	1 lab	8cf6ce3d88
2:179452780 TTN C>G	2	179452780	179452780	C	G	TTN	c.63354G>C	NM_001267550.2	NP_001254479.2:p.(Arg21118=)	NC_000002.11:g.179452780C>G	(Likely) benign	1 lab	8cf71deb1c
16:81954798 PLCG2 T>C	16	81954798	81954798	T	C	PLCG2	c.2236-5T>C	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81954798T>C	(Likely) benign	1 lab	0d7050ba51
16:46727099 VPS35 G>A	16	46727099	46727099	G	A	VPS35				NC_000016.9:g.46727099G>A	(Likely) pathogenic	1 lab	8cf9dcfffe
1:196953167 CFHR5 A>C	1	196953167	196953167	A	C	CFHR5	c.330A>C	NM_030787.4	NP_110414.1:p.(Val110=)	NC_000001.10:g.196953167A>C	(Likely) benign	1 lab	8cf9de5520
11:65307643 LTBP3 T>G	11	65307643	65307643	T	G	LTBP3	c.3245-19A>C	NM_001130144.2	NP_001123616.1:p.?	NC_000011.9:g.65307643T>G	(Likely) benign	1 lab	0d7204335b
15:51502844 CYP19A1 A>C	15	51502844	51502844	A	C	CYP19A1	c.*161T>G	NM_031226.3	NP_112503.1:p.?	NC_000015.9:g.51502844A>C	(Likely) benign	1 lab	0d321f4bf5
3:38888458 SCN11A A>C	3	38888458	38888458	A	C	SCN11A	c.5103T>G	NM_014139.2	NP_054858.2:p.(Asp1701Glu)	NC_000003.11:g.38888458A>C	VUS	1 lab	8cfb26a17c
2:159499056 PKP4 A>C	2	159499056	159499056	A	C	PKP4	c.1754A>C	NM_003628.4	NP_003619.2:p.(Glu585Ala)	NC_000002.11:g.159499056A>C	VUS	1 lab	8cff6426ff
20:408996 RBCK1 C>T	20	408996	408996	C	T	RBCK1	c.1210-139C>T	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.408996C>T	(Likely) benign	1 lab	0d7449e32c
8:10467168 RP1L1 C>T	8	10467168	10467168	C	T	RP1L1	c.4440G>A	NM_178857.6	NP_849188.4:p.(Pro1480=)	NC_000008.10:g.10467168C>T	(Likely) benign	1 lab	8d0543f3f6
1:220332732 RAB3GAP2 C>T	1	220332732	220332732	C	T	RAB3GAP2	c.3257G>A	NM_012414.4	NP_036546.2:p.(Arg1086Gln)	NC_000001.10:g.220332732C>T	VUS	1 lab	06f4b07b4b
10:104353424 SUFU C>G	10	104353424	104353424	C	G	SUFU	c.629C>G	NM_016169.3	NP_057253.2:p.(Ser210Ter)	NC_000010.10:g.104353424C>G	(Likely) pathogenic	1 lab	8d0929a2e5
15:48829850 FBN1 G>A	15	48829850	48829850	G	A	FBN1	c.694C>T	NM_000138.5	NP_000129.3:p.(Arg232Cys)	NC_000015.9:g.48829850G>A	VUS	1 lab	8d0936dceb
3:43122445 POMGNT2 T>C	3	43122445	43122445	T	C	POMGNT2	c.479A>G	NM_032806.5	NP_116195.2:p.(Asn160Ser)	NC_000003.11:g.43122445T>C	VUS	1 lab	8d36942eee
6:76640839 IMPG1 CCAGGAACTTGCAGGGATCTGCTTGATCAGCTGTAAGAAATGGG>C	6	76640839	76640882	CCAGGAACTTGCAGGGATCTGCTTGATCAGCTGTAAGAAATGGG	C	IMPG1	c.2045-14_2073del	NM_001563.4	NP_001554.2:p.?	NC_000006.11:g.76640840_76640882del	(Likely) pathogenic	1 lab	8d13a9a8ee
1:216500928 USH2A C>G	1	216500928	216500928	C	G	USH2A	c.848+5G>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216500928C>G	(Likely) benign	1 lab	8d140ea50e
2:168115036 XIRP2 C>A	2	168115036	168115036	C	A	XIRP2	c.*709C>A	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168115036C>A	(Likely) benign	1 lab	8d148fd162
X:30326312 NR0B1 C>A	X	30326312	30326312	C	A	NR0B1	c.1168+1G>T	NM_000475.5	NP_000466.2:p.?	NC_000023.10:g.30326312C>A	(Likely) pathogenic	1 lab	0d7691428d
18:45422958 SMAD2 C>T	18	45422958	45422958	C	T	SMAD2	c.170G>A	NM_005901.6	NP_005892.1:p.(Arg57Gln)	NC_000018.9:g.45422958C>T	VUS	1 lab	8d19fa4001
17:42333071 SLC4A1 C>T	17	42333071	42333071	C	T	SLC4A1	c.1770G>A	NM_000342.4	NP_000333.1:p.(Lys590=)	NC_000017.10:g.42333071C>T	(Likely) benign	1 lab	0d7a4acf1f
19:38993588 RYR1 A>T	19	38993588	38993588	A	T	RYR1	c.7904A>T	NM_000540.2	NP_000531.2:p.(Glu2635Val)	NC_000019.9:g.38993588A>T	VUS	1 lab	8d1cb5aeec
12:112888156 PTPN11 A>C	12	112888156	112888156	A	C	PTPN11	c.172A>C	NM_002834.3	NP_002825.3:p.(Asn58His)	NC_000012.11:g.112888156A>C	(Likely) pathogenic	1 lab	8d1d827b7c
19:1220513 STK11 G>A	19	1220513	1220513	G	A	STK11	c.597+9G>A	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220513G>A	(Likely) benign	1 lab	8d1df55fca
5:43616041 NNT C>A	5	43616041	43616041	C	A	NNT	c.473C>A	NM_012343.3	NP_036475.3:p.(Ala158Asp)	NC_000005.9:g.43616041C>A	(Likely) pathogenic	1 lab	8d23a10306
1:215914826 USH2A T>C	1	215914826	215914826	T	C	USH2A				NC_000001.10:g.215914826T>C	(Likely) benign	1 lab	8d240f1b7b
2:215634056 BARD1 G>A	2	215634056	215634056	G	A	BARD1	c.1315-20C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215634056G>A	(Likely) benign	1 lab	8d24ffae42
10:131565064 MGMT A>G	10	131565064	131565064	A	G	MGMT	c.520A>G	NM_002412.4	NP_002403.2:p.(Ile174Val)	NC_000010.10:g.131565064A>G	VUS	1 lab	8d2b8577f1
1:120539617 NOTCH2 T>C	1	120539617	120539617	T	C	NOTCH2	c.751+3A>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120539617T>C	VUS	1 lab	9e0cc750a9
19:11348355 DOCK6 G>A	19	11348355	11348355	G	A	DOCK6	c.1933C>T	NM_020812.3	NP_065863.2:p.(Arg645Trp)	NC_000019.9:g.11348355G>A	VUS	1 lab	8d369b3e78
16:89169088 ACSF3 A>G	16	89169088	89169088	A	G	ACSF3	c.743A>G	NM_001127214.4	NP_001120686.1:p.(His248Arg)	NC_000016.9:g.89169088A>G	(Likely) pathogenic	1 lab	8d38a521ec
3:49662608 BSN C>T	3	49662608	49662608	C	T	BSN	c.425C>T	NM_003458.3	NP_003449.2:p.(Pro142Leu)	NC_000003.11:g.49662608C>T	(Likely) benign	1 lab	8d3a1fa32c
10:67680326 CTNNA3 G>A	10	67680326	67680326	G	A	CTNNA3	c.2450C>T	NM_013266.3	NP_037398.2:p.(Ala817Val)	NC_000010.10:g.67680326G>A	VUS	1 lab	8d3cde97b4
X:119580253 LAMP2 A>G	X	119580253	119580253	A	G	LAMP2	c.771T>C	NM_002294.2	NP_002285.1:p.(Asn257=)	NC_000023.10:g.119580253A>G	(Likely) benign	1 lab	8d3dc22511
9:129455855 LMX1B T>C	9	129455855	129455855	T	C	LMX1B	c.794T>C	NM_002316.3	NP_002307.2:p.(Val265Ala)	NC_000009.11:g.129455855T>C	(Likely) pathogenic	1 lab	8d43598ab0
10:73544798 CDH23 C>T	10	73544798	73544798	C	T	CDH23	c.5653C>T	NM_022124.5	NP_071407.4:p.(Arg1885Cys)	NC_000010.10:g.73544798C>T	(Likely) benign	1 lab	8d443e8807
10:88672158 BMPR1A T>C	10	88672158	88672158	T	C	BMPR1A	c.675+17T>C	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88672158T>C	(Likely) benign	1 lab	8d473a3b4a
4:166935655 TLL1 C>A	4	166935655	166935655	C	A	TLL1	c.985C>A	NM_012464.4	NP_036596.3:p.(Arg329=)	NC_000004.11:g.166935655C>A	(Likely) benign	1 lab	8d478350d9
2:166012341 SCN3A G>T	2	166012341	166012341	G	T	SCN3A	c.1104C>A	NM_006922.3	NP_008853.3:p.(Thr368=)	NC_000002.11:g.166012341G>T	(Likely) benign	1 lab	8d48562d93
17:8076848 SNORD118 A>G	17	8076848	8076848	A	G	SNORD118	n.59T>C	NR_033294.1		NC_000017.10:g.8076848A>G	(Likely) pathogenic	1 lab	8d48830c37
3:41841677 MISSING ACAAAATGGGTCCTATTTCT>A	3	41841677	41841697	ACAAAATGGGTCCTATTTCT	A	MISSING				NC_000003.11:g.41841679_41841697del	VUS	1 lab	8d4aec59cd
14:51088604 ATL1 A>C	14	51088604	51088604	A	C	ATL1	c.1034A>C	NM_015915.4	NP_056999.2:p.(Lys345Thr)	NC_000014.8:g.51088604A>C	(Likely) pathogenic	1 lab	8d4ef8c91e
9:130257493 LRSAM1 A>G	9	130257493	130257493	A	G	LRSAM1	c.1600-106A>G	NM_001005373.4	NP_001005373.1:p.?	NC_000009.11:g.130257493A>G	(Likely) benign	1 lab	8d50fe31f6
5:167798460 WWC1 A>G	5	167798460	167798460	A	G	WWC1				NC_000005.9:g.167798460A>G	VUS	1 lab	8d52ba9f23
1:155247568 HCN3 C>T	1	155247568	155247568	C	T	HCN3	c.187C>T	NM_020897.2	NP_065948.1:p.(Arg63Trp)	NC_000001.10:g.155247568C>T	VUS	1 lab	8d74e3e1b4
1:156105886 LMNA C>T	1	156105886	156105886	C	T	LMNA	c.1131C>T	NM_170707.4	NP_733821.1:p.(Arg377=)	NC_000001.10:g.156105886C>T	(Likely) pathogenic	1 lab	8d5638fe53
21:36231782 RUNX1 C>T	21	36231782	36231782	C	T	RUNX1	c.602G>A	NM_001754.5	NP_001745.2:p.(Arg201Gln)	NC_000021.8:g.36231782C>T	(Likely) pathogenic	1 lab	8d5739393c
21:35821411 KCNE1 T>C	21	35821411	35821411	T	C	KCNE1	c.*132A>G	NM_000219.5	NP_000210.2:p.?	NC_000021.8:g.35821411T>C	(Likely) benign	1 lab	975f623de0
17:41244684 BRCA1 G>T	17	41244684	41244684	G	T	BRCA1	c.2864C>A	NM_007294.3	NP_009225.1:p.(Ser955Ter)	NC_000017.10:g.41244684G>T	(Likely) pathogenic	1 lab	8d5b3bdc0a
17:41215929 BRCA1 A>G	17	41215929	41215929	A	G	BRCA1	c.5114T>C	NM_007294.3	NP_009225.1:p.(Leu1705Pro)	NC_000017.10:g.41215929A>G	(Likely) pathogenic	1 lab	8d5f4800aa
14:74424938 COQ6 T>C	14	74424938	74424938	T	C	COQ6	c.495T>C	NM_182480.3	NP_872286.2:p.(His165=)	NC_000014.8:g.74424938T>C	(Likely) benign	1 lab	070ec5d76d
10:104161592 NFKB2 C>G	10	104161592	104161592	C	G	NFKB2	c.2384C>G	NM_001077494.3	NP_001070962.1:p.(Ala795Gly)	NC_000010.10:g.104161592C>G	VUS	1 lab	8d624d5298
2:20133230 WDR35 C>T	2	20133230	20133230	C	T	WDR35				NC_000002.11:g.20133230C>T	(Likely) pathogenic	1 lab	8d65e2c0ef
X:149828842 MTM1 A>T	X	149828842	149828842	A	T	MTM1	c.1354-2A>T	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149828842A>T	(Likely) pathogenic	1 lab	8d7010ec89
5:127730981 FBN2 A>C	5	127730981	127730981	A	C	FBN2	c.1079-14T>G	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127730981A>C	(Likely) benign	1 lab	8d7062c725
X:153760673 G6PD A>C	X	153760673	153760673	A	C	G6PD	c.1382T>G	NM_000402.3	NP_000393.4:p.(Val461Gly)	NC_000023.10:g.153760673A>C	(Likely) pathogenic	1 lab	8d711613af
19:2438529 LMNB2 G>A	19	2438529	2438529	G	A	LMNB2	c.402C>T	NM_032737.4	NP_116126.3:p.(Ser134=)	NC_000019.9:g.2438529G>A	(Likely) benign	1 lab	07107a5460
15:38648527 SPRED1 T>A	15	38648527	38648527	T	A	SPRED1	c.*4662T>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38648527T>A	(Likely) benign	1 lab	8d79e19e72
5:112174268 APC A>T	5	112174268	112174268	A	T	APC	c.2977A>T	NM_000038.6	NP_000029.2:p.(Lys993Ter)	NC_000005.9:g.112174268A>T	(Likely) pathogenic	1 lab	8d7cd06aad
9:2086950 SMARCA2 C>T	9	2086950	2086950	C	T	SMARCA2	c.2648C>T	NM_003070.5	NP_003061.3:p.(Pro883Leu)	NC_000009.11:g.2086950C>T	(Likely) pathogenic	1 lab	8d7d3824fc
17:39923730 JUP C>T	17	39923730	39923730	C	T	JUP	c.810G>A	NM_002230.3	NP_002221.1:p.(Leu270=)	NC_000017.10:g.39923730C>T	(Likely) benign	1 lab	8d7dd675c0
2:179644029 TTN A>G	2	179644029	179644029	A	G	TTN	c.3890T>C	NM_001267550.2	NP_001254479.2:p.(Ile1297Thr)	NC_000002.11:g.179644029A>G	(Likely) benign	1 lab	8d7fe31040
1:236926787 ACTN2 T>G	1	236926787	236926787	T	G	ACTN2	c.*868T>G	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236926787T>G	VUS	1 lab	8d803d16fc
5:176719067 NSD1 G>A	5	176719067	176719067	G	A	NSD1	c.6371G>A	NM_022455.5	NP_071900.2:p.(Cys2124Tyr)	NC_000005.9:g.176719067G>A	(Likely) pathogenic	1 lab	07122886fe
22:29121253 CHEK2 T>G	22	29121253	29121253	T	G	CHEK2	c.422A>C	NM_007194.4	NP_009125.1:p.(Lys141Thr)	NC_000022.10:g.29121253T>G	VUS	1 lab	8d81e32e11
2:223096805 PAX3 G>A	2	223096805	223096805	G	A	PAX3	c.784C>T	NM_181459.3	NP_852124.1:p.(Arg262Ter)	NC_000002.11:g.223096805G>A	(Likely) pathogenic	1 lab	8d833fbb08
18:19751624 GATA6 G>GGCCGCGGCGGCAGCA	18	19751624	19751650	G	GGCCGCGGCGGCAGCA	GATA6	c.531_545dup	NM_005257.5	NP_005248.2:p.(Ala179_Ala183dup)	NC_000018.9:g.19751636_19751650dup	VUS	1 lab	8d83ac626f
17:16843704 TNFRSF13B C>G	17	16843704	16843704	C	G	TNFRSF13B	c.567G>C	NM_012452.3	NP_036584.1:p.(Arg189Ser)	NC_000017.10:g.16843704C>G	VUS	1 lab	0715c0408c
12:80730315 OTOGL G>A	12	80730315	80730315	G	A	OTOGL				NC_000012.11:g.80730315G>A	VUS	1 lab	8d8983221c
X:153607915 EMD G>C	X	153607915	153607915	G	C	EMD	c.71G>C	NM_000117.2	NP_000108.1:p.(Gly24Ala)	NC_000023.10:g.153607915G>C	VUS	1 lab	8d8e5144f7
12:110778731 ATP2A2 C>T	12	110778731	110778731	C	T	ATP2A2	c.2029C>T	NM_001681.3	NP_001672.1:p.(Arg677Ter)	NC_000012.11:g.110778731C>T	(Likely) pathogenic	1 lab	8d8f2743e7
14:65252095 SPTB G>T	14	65252095	65252095	G	T	SPTB	c.3855+160C>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65252095G>T	(Likely) benign	1 lab	38933e858a
11:108122696 ATM C>G	11	108122696	108122696	C	G	ATM	c.1740C>G	NM_000051.4	NP_000042.3:p.(Leu580=)	NC_000011.9:g.108122696C>G	(Likely) benign	1 lab	8d8ff21841
9:108397496 FKTN A>G	9	108397496	108397496	A	G	FKTN	c.1337A>G	NM_001079802.2	NP_001073270.1:p.(Asn446Ser)	NC_000009.11:g.108397496A>G	VUS	1 lab	0716cd0619
17:18027809 MYO15A C>T	17	18027809	18027809	C	T	MYO15A	c.3622C>T	NM_016239.3	NP_057323.3:p.(Arg1208Cys)	NC_000017.10:g.18027809C>T	VUS	1 lab	8d91a9025a
14:102493876 DYNC1H1 G>A	14	102493876	102493876	G	A	DYNC1H1	c.9043G>A	NM_001376.5	NP_001367.2:p.(Gly3015Arg)	NC_000014.8:g.102493876G>A	VUS	1 lab	8d95c336f1
7:33397518 BBS9 G>A	7	33397518	33397518	G	A	BBS9	c.1604G>A	NM_198428.2	NP_940820.1:p.(Cys535Tyr)	NC_000007.13:g.33397518G>A	VUS	1 lab	8dbe172bba
8:117862893 RAD21 C>CTCCTTCTCTTTTTCTGGCAGAAGT	8	117862893	117862919	C	CTCCTTCTCTTTTTCTGGCAGAAGT	RAD21	c.1560_1583dup	NM_006265.3	NP_006256.1:p.(Leu521_Glu528dup)	NC_000008.10:g.117862896_117862919dup	VUS	1 lab	0717dfbdf9
12:133250289 POLE C>G	12	133250289	133250289	C	G	POLE	c.1231G>C	NM_006231.4	NP_006222.2:p.(Val411Leu)	NC_000012.11:g.133250289C>G	(Likely) pathogenic	1 lab	8d9792a09d
10:69908107 MYPN C>A	10	69908107	69908107	C	A	MYPN	c.1131-3C>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69908107C>A	(Likely) benign	1 lab	8d98bc6b3b
3:47450758 PTPN23 A>G	3	47450758	47450758	A	G	PTPN23	c.1748A>G	NM_015466.4	NP_056281.1:p.(Lys583Arg)	NC_000003.11:g.47450758A>G	VUS	1 lab	8d9e1c4ed7
13:77592778 FBXL3 C>T	13	77592778	77592778	C	T	FBXL3	c.428G>A	NM_012158.2	NP_036290.1:p.(Gly143Glu)	NC_000013.10:g.77592778C>T	VUS	1 lab	8da3a809c0
1:1737952 GNB1 C>T	1	1737952	1737952	C	T	GNB1	c.229G>A	NM_002074.5	NP_002065.1:p.(Gly77Ser)	NC_000001.10:g.1737952C>T	(Likely) pathogenic	1 lab	8da7359786
X:85218674 CHM G>T	X	85218674	85218674	G	T	CHM	c.698C>A	NM_000390.2	NP_000381.1:p.(Ser233Ter)	NC_000023.10:g.85218674G>T	(Likely) pathogenic	1 lab	8da80da87d
15:43906620 STRC G>A	15	43906620	43906620	G	A	STRC	c.2188C>T	NM_153700.2	NP_714544.1:p.(Leu730=)	NC_000015.9:g.43906620G>A	(Likely) benign	1 lab	8daadbf7de
3:37053433 MLH1 A>G	3	37053433	37053433	A	G	MLH1	c.589-69A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053433A>G	(Likely) benign	1 lab	8dacf4b39e
6:152671892 SYNE1 G>A	6	152671892	152671892	G	A	SYNE1	c.11594C>T	NM_182961.4	NP_892006.3:p.(Thr3865Met)	NC_000006.11:g.152671892G>A	(Likely) benign	1 lab	0d84056549
12:110013929 MVK T>A	12	110013929	110013929	T	A	MVK	c.205T>A	NM_000431.2	NP_000422.1:p.(Ser69Thr)	NC_000012.11:g.110013929T>A	VUS	1 lab	0d84d21c70
X:136649911 ZIC3 G>A	X	136649911	136649911	G	A	ZIC3	c.1060+1G>A	NM_003413.3	NP_003404.1:p.?	NC_000023.10:g.136649911G>A	(Likely) pathogenic	1 lab	8db5031023
10:73500652 CDH23 A>G	10	73500652	73500652	A	G	CDH23	c.4562A>G	NM_022124.5	NP_071407.4:p.(Asn1521Ser)	NC_000010.10:g.73500652A>G	(Likely) pathogenic	1 lab	8db835ef42
12:124197114 ATP6V0A2 T>C	12	124197114	124197114	T	C	ATP6V0A2	c.2T>C	NM_012463.3	NP_036595.2:p.(Met1?)	NC_000012.11:g.124197114T>C	(Likely) pathogenic	1 lab	8db93b9d3a
14:74961032 ISCA2 G>A	14	74961032	74961032	G	A	ISCA2	c.229G>A	NM_194279.2	NP_919255.2:p.(Gly77Ser)	NC_000014.8:g.74961032G>A	(Likely) pathogenic	1 lab	8dbe79b2cd
X:53228231 KDM5C C>CA	X	53228231	53228232	C	CA	KDM5C	c.2170dup	NM_004187.5	NP_004178.2:p.(Cys724LeufsTer13)	NC_000023.10:g.53228232dup	(Likely) pathogenic	1 lab	8dbeee30d1
9:97369083 FBP1 G>A	9	97369083	97369083	G	A	FBP1	c.705+14C>T	NM_000507.3	NP_000498.2:p.?	NC_000009.11:g.97369083G>A	(Likely) benign	1 lab	8dbf2ed8f0
3:37090400 MLH1 T>G	3	37090400	37090400	T	G	MLH1				NC_000003.11:g.37090400T>G	VUS	1 lab	8dc0c3d7eb
4:149073717 NR3C2 A>G	4	149073717	149073717	A	G	NR3C2	c.2413T>C	NM_000901.4	NP_000892.2:p.(Ser805Pro)	NC_000004.11:g.149073717A>G	(Likely) pathogenic	1 lab	8dc0ff388f
1:145417510 HJV A>T	1	145417510	145417510	A	T	HJV	c.*574A>T	NM_213653.3	NP_998818.1:p.?	NC_000001.10:g.145417510A>T	VUS	1 lab	8dc5ba510d
5:131714133 SLC22A5 G>C	5	131714133	131714133	G	C	SLC22A5				NC_000005.9:g.131714133G>C	VUS	1 lab	8dc6160b4a
1:19559155 EMC1 G>T	1	19559155	19559155	G	T	EMC1	c.1745C>A	NM_015047.2	NP_055862.1:p.(Pro582His)	NC_000001.10:g.19559155G>T	VUS	1 lab	8dc7252743
2:179411981 TTN G>A	2	179411981	179411981	G	A	TTN	c.94271C>T	NM_001267550.2	NP_001254479.2:p.(Ala31424Val)	NC_000002.11:g.179411981G>A	(Likely) benign	1 lab	8dc85f198a
2:74595108 DCTN1 G>A	2	74595108	74595108	G	A	DCTN1	c.2005C>T	NM_004082.4	NP_004073.2:p.(Arg669Cys)	NC_000002.11:g.74595108G>A	VUS	1 lab	8dc9271dbe
19:50139109 RRAS C>G	19	50139109	50139109	C	G	RRAS	c.454G>C	NM_006270.4	NP_006261.1:p.(Val152Leu)	NC_000019.9:g.50139109C>G	(Likely) benign	1 lab	8dc9ac3b9d
13:41373353 SLC25A15 C>T	13	41373353	41373353	C	T	SLC25A15	c.216C>T	NM_014252.4	NP_055067.1:p.(Ile72=)	NC_000013.10:g.41373353C>T	(Likely) benign	1 lab	071a714481
1:214813932 CENPF C>T	1	214813932	214813932	C	T	CENPF	c.2251C>T	NM_016343.4	NP_057427.3:p.(Arg751Trp)	NC_000001.10:g.214813932C>T	VUS	1 lab	071ed0dbb3
19:38990594 RYR1 G>T	19	38990594	38990594	G	T	RYR1	c.7261G>T	NM_000540.2	NP_000531.2:p.(Ala2421Ser)	NC_000019.9:g.38990594G>T	VUS	1 lab	8dccf7123b
3:114099628 ZBTB20 C>A	3	114099628	114099628	C	A	ZBTB20	c.7G>T	NM_001164342.2	NP_001157814.1:p.(Glu3Ter)	NC_000003.11:g.114099628C>A	(Likely) pathogenic	1 lab	8dcdda0b07
3:52439211 BAP1 T>C	3	52439211	52439211	T	C	BAP1	c.1031A>G	NM_004656.3	NP_004647.1:p.(Asn344Ser)	NC_000003.11:g.52439211T>C	(Likely) benign	1 lab	8dce737565
8:20077854 ATP6V1B2 A>T	8	20077854	20077854	A	T	ATP6V1B2	c.1477A>T	NM_001693.4	NP_001684.2:p.(Lys493Ter)	NC_000008.10:g.20077854A>T	(Likely) pathogenic	1 lab	8dce8c2d1a
19:17743590 UNC13A C>T	19	17743590	17743590	C	T	UNC13A	c.3428+1G>A	NM_001080421.2	NP_001073890.2:p.?	NC_000019.9:g.17743590C>T	VUS	1 lab	8dcfced185
20:62326972 RTEL1 G>A	20	62326972	62326972	G	A	RTEL1	c.3724+139G>A	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62326972G>A	(Likely) pathogenic	1 lab	8dd23625aa
1:196762584 CFHR3 A>T	1	196762584	196762584	A	T	CFHR3	c.934A>T	NM_021023.6	NP_066303.2:p.(Ile312Phe)	NC_000001.10:g.196762584A>T	(Likely) benign	1 lab	8dd7b24ace
13:32912951 BRCA2 A>C	13	32912951	32912951	A	C	BRCA2	c.4459A>C	NM_000059.3	NP_000050.2:p.(Lys1487Gln)	NC_000013.10:g.32912951A>C	(Likely) benign	1 lab	8dd825a181
1:156849833 NTRK1 G>A	1	156849833	156849833	G	A	NTRK1	c.2089G>A	NM_002529.3	NP_002520.2:p.(Glu697Lys)	NC_000001.10:g.156849833G>A	VUS	1 lab	8dd881d91d
19:48339604 CRX C>T	19	48339604	48339604	C	T	CRX	c.205C>T	NM_000554.4	NP_000545.1:p.(Arg69Cys)	NC_000019.9:g.48339604C>T	VUS	1 lab	8de0038fa8
3:129324396 MISSING G>A	3	129324396	129324396	G	A	MISSING				NC_000003.11:g.129324396G>A	VUS	1 lab	9022b2e082
4:1993440 NELFA C>T	4	1993440	1993440	C	T	NELFA	c.213G>A	NM_005663.5	NP_005654.4:p.(Met71Ile)	NC_000004.11:g.1993440C>T	VUS	1 lab	8de12dddef
11:108224587 ATM T>C	11	108224587	108224587	T	C	ATM	c.8766T>C	NM_000051.3	NP_000042.3:p.(Gly2922=)	NC_000011.9:g.108224587T>C	(Likely) benign	1 lab	8de1b9272e
11:65634107 EFEMP2 G>A	11	65634107	65634107	G	A	EFEMP2	c.*282C>T	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65634107G>A	(Likely) benign	1 lab	8de2092016
15:35083492 ACTC1 C>T	15	35083492	35083492	C	T	ACTC1	c.813G>A	NM_005159.5	NP_005150.1:p.(Met271Ile)	NC_000015.9:g.35083492C>T	(Likely) pathogenic	1 lab	8de229b9a3
12:6061069 VWF T>G	12	6061069	6061069	T	G	VWF	c.8116-20A>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6061069T>G	(Likely) benign	1 lab	8de6b6f0f6
13:32954105 BRCA2 G>A	13	32954105	32954105	G	A	BRCA2	c.9118-39G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954105G>A	(Likely) benign	1 lab	8de84b43ed
2:179449140 TTN A>G	2	179449140	179449140	A	G	TTN	c.65138T>C	NM_001267550.1	NP_001254479.1:p.(Leu21713Pro)	NC_000002.11:g.179449140A>G	(Likely) benign	1 lab	8de88e4079
17:41234680 BRCA1 G>A	17	41234680	41234680	G	A	BRCA1	c.4186-88C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41234680G>A	(Likely) benign	1 lab	0d89dee7e3
15:93522378 CHD2 G>T	15	93522378	93522378	G	T	CHD2	c.2741G>T	NM_001271.4	NP_001262.3:p.(Arg914Leu)	NC_000015.9:g.93522378G>T	VUS	1 lab	8df1b89686
11:61727007 BEST1 A>C	11	61727007	61727007	A	C	BEST1	c.905A>C	NM_004183.3	NP_004174.1:p.(Asp302Ala)	NC_000011.9:g.61727007A>C	(Likely) pathogenic	1 lab	8df22fba65
1:160105040 ATP1A2 G>A	1	160105040	160105040	G	A	ATP1A2				NC_000001.10:g.160105040G>A	(Likely) benign	1 lab	0d8a2d87c4
6:3154694 TUBB2A G>C	6	3154694	3154694	G	C	TUBB2A	c.741C>G	NM_001069.2	NP_001060.1:p.(Asn247Lys)	NC_000006.11:g.3154694G>C	(Likely) pathogenic	1 lab	8df36d33d7
7:70255872 AUTS2 A>G	7	70255872	70255872	A	G	AUTS2	c.3670A>G	NM_015570.3	NP_056385.1:p.(Ile1224Val)	NC_000007.13:g.70255872A>G	(Likely) benign	1 lab	8df3fd282b
13:20763271 GJB2 GA>G	13	20763271	20763273	GA	G	GJB2	c.449del	NM_004004.6	NP_003995.2:p.(Phe150SerfsTer18)	NC_000013.10:g.20763273del	(Likely) pathogenic	1 lab	8df69fc54d
12:52967080 KRT74 A>G	12	52967080	52967080	A	G	KRT74	c.471+11T>C	NM_175053.4	NP_778223.2:p.?	NC_000012.11:g.52967080A>G	(Likely) benign	1 lab	0725dbac4f
22:36745049 MYH9 G>A	22	36745049	36745049	G	A	MYH9	c.233C>T	NM_002473.6	NP_002464.1:p.(Pro78Leu)	NC_000022.10:g.36745049G>A	(Likely) benign	1 lab	07285fc896
13:32936750 BRCA2 A>T	13	32936750	32936750	A	T	BRCA2	c.7896A>T	NM_000059.3	NP_000050.2:p.(Ala2632=)	NC_000013.10:g.32936750A>T	(Likely) benign	1 lab	8dfa39b180
7:128482976 FLNC C>T	7	128482976	128482976	C	T	FLNC	c.2518C>T	NM_001458.5	NP_001449.3:p.(Arg840Cys)	NC_000007.13:g.128482976C>T	VUS	1 lab	8dfd206b5b
6:33388105 SYNGAP1 A>T	6	33388105	33388105	A	T	SYNGAP1	c.64A>T	NM_006772.3	NP_006763.2:p.(Arg22Ter)	NC_000006.11:g.33388105A>T	(Likely) pathogenic	1 lab	8dffeede41
7:143028358 CLCN1 G>A	7	143028358	143028358	G	A	CLCN1	c.1013G>A	NM_000083.2	NP_000074.2:p.(Arg338Gln)	NC_000007.13:g.143028358G>A	(Likely) pathogenic	1 lab	8e00f9309a
2:179410407 TTN TGGTG>T	2	179410407	179410411	TGGTG	T	TTN	c.95426_95429del	NM_001267550.2	NP_001254479.2:p.(Ser31809TyrfsTer34)	NC_000002.11:g.179410408_179410411del	(Likely) pathogenic	1 lab	8e02988d3c
1:3319454 PRDM16 C>T	1	3319454	3319454	C	T	PRDM16	c.776C>T	NM_022114.3	NP_071397.3:p.(Ala259Val)	NC_000001.10:g.3319454C>T	(Likely) benign	1 lab	8e08eb8218
2:167159705 SCN9A G>T	2	167159705	167159705	G	T	SCN9A				NC_000002.11:g.167159705G>T	VUS	1 lab	8e09059f27
22:38528920 PLA2G6 C>G	22	38528920	38528920	C	G	PLA2G6	c.461G>C	NM_001349867.2	NP_001336796.1:p.(Cys154Ser)	NC_000022.10:g.38528920C>G	VUS	1 lab	072b091240
2:47656958 MSH2 C>A	2	47656958	47656958	C	A	MSH2	c.1154C>A	NM_000251.2	NP_000242.1:p.(Pro385Gln)	NC_000002.11:g.47656958C>A	VUS	1 lab	8e094115a8
11:47463427 RAPSN G>A	11	47463427	47463427	G	A	RAPSN	c.737C>T	NM_005055.4	NP_005046.2:p.(Ala246Val)	NC_000011.9:g.47463427G>A	(Likely) pathogenic	1 lab	8e09a1b1a3
1:154573538 ADAR C>T	1	154573538	154573538	C	T	ADAR	c.1580G>A	NM_001111.5	NP_001102.3:p.(Ser527Asn)	NC_000001.10:g.154573538C>T	VUS	1 lab	072ca7a62c
2:86317037 POLR1A G>C	2	86317037	86317037	G	C	POLR1A	c.448C>G	NM_015425.3	NP_056240.2:p.(Pro150Ala)	NC_000002.11:g.86317037G>C	(Likely) benign	1 lab	8e0dce345f
3:38912951 SCN11A G>A	3	38912951	38912951	G	A	SCN11A	c.3744C>T	NM_014139.2	NP_054858.2:p.(Leu1248=)	NC_000003.11:g.38912951G>A	(Likely) benign	1 lab	8e135b53e4
X:107850125 COL4A5 A>G	X	107850125	107850125	A	G	COL4A5	c.2395+3A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107850125A>G	(Likely) pathogenic	1 lab	8e1759c682
2:47657029 MSH2 C>T	2	47657029	47657029	C	T	MSH2	c.1225C>T	NM_000251.2	NP_000242.1:p.(Gln409Ter)	NC_000002.11:g.47657029C>T	(Likely) pathogenic	1 lab	8e1df33b05
3:37048528 MLH1 G>A	3	37048528	37048528	G	A	MLH1	c.427G>A	NM_000249.4	NP_000240.1:p.(Ala143Thr)	NC_000003.11:g.37048528G>A	VUS	1 lab	8e204cfd07
X:41206208 DDX3X T>G	X	41206208	41206208	T	G	DDX3X	c.1712T>G	NM_001356.4	NP_001347.3:p.(Leu571Ter)	NC_000023.10:g.41206208T>G	(Likely) pathogenic	1 lab	8e2162e002
17:18049310 MYO15A A>G	17	18049310	18049310	A	G	MYO15A	c.6398A>G	NM_016239.3	NP_057323.3:p.(Asn2133Ser)	NC_000017.10:g.18049310A>G	VUS	1 lab	8e268e821c
12:48398097 COL2A1 C>A	12	48398097	48398097	C	A	COL2A1	c.8G>T	NM_001844.4	NP_001835.3:p.(Arg3Leu)	NC_000012.11:g.48398097C>A	VUS	1 lab	8e3fc9187d
22:40662530 TNRC6B AG>A	22	40662530	40662531	AG	A	TNRC6B	c.2297del	NM_001162501.2	NP_001155973.1:p.(Ser766IlefsTer26)	NC_000022.10:g.40662531del	(Likely) pathogenic	1 lab	8e2a32e524
4:3465097 DOK7 C>G	4	3465097	3465097	C	G	DOK7	c.-6C>G	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3465097C>G	(Likely) benign	1 lab	8e2a37fde8
5:89990462 ADGRV1 C>A	5	89990462	89990462	C	A	ADGRV1	c.7889C>A	NM_032119.3	NP_115495.3:p.(Thr2630Lys)	NC_000005.9:g.89990462C>A	VUS	1 lab	8e2b3ba8c1
22:36678800 MYH9 G>A	22	36678800	36678800	G	A	MYH9	c.5797C>T	NM_002473.6	NP_002464.1:p.(Arg1933Ter)	NC_000022.10:g.36678800G>A	(Likely) pathogenic	1 lab	8e2c0f0d45
6:118880573 PLN C>G	6	118880573	118880573	C	G	PLN	c.*330C>G	NM_002667.3	NP_002658.1:p.?	NC_000006.11:g.118880573C>G	(Likely) benign	1 lab	8e2f69aba0
15:66995634 SMAD6 T>G	15	66995634	66995634	T	G	SMAD6	c.38T>G	NM_005585.4	NP_005576.3:p.(Leu13Arg)	NC_000015.9:g.66995634T>G	VUS	1 lab	8e3546226e
X:152990929 ABCD1 G>C	X	152990929	152990929	G	C	ABCD1	c.208G>C	NM_000033.3	NP_000024.2:p.(Val70Leu)	NC_000023.10:g.152990929G>C	(Likely) benign	1 lab	8e354dc2c9
6:121768112 GJA1 C>T	6	121768112	121768112	C	T	GJA1	c.119C>T	NM_000165.3	NP_000156.1:p.(Ala40Val)	NC_000006.11:g.121768112C>T	(Likely) pathogenic	1 lab	8e3653f66b
12:8994099 A2ML1 A>G	12	8994099	8994099	A	G	A2ML1				NC_000012.11:g.8994099A>G	(Likely) benign	1 lab	8e36a021d3
1:216073417 USH2A T>A	1	216073417	216073417	T	A	USH2A	c.7594A>T	NM_206933.4	NP_996816.3:p.(Lys2532Ter)	NC_000001.10:g.216073417T>A	(Likely) pathogenic	1 lab	8e381520ff
9:98229499 PTCH1 T>TA	9	98229499	98229502	T	TA	PTCH1	c.2458dup	NM_000264.3	NP_000255.2:p.(Tyr820LeufsTer9)	NC_000009.11:g.98229502dup	(Likely) pathogenic	1 lab	8e39048ed5
11:119535572 NECTIN1 C>T	11	119535572	119535572	C	T	NECTIN1	c.1439G>A	NM_002855.4	NP_002846.3:p.(Gly480Asp)	NC_000011.9:g.119535572C>T	VUS	1 lab	8e393f41df
7:151932990 KMT2C C>T	7	151932990	151932990	C	T	KMT2C	c.2681G>A	NM_170606.2	NP_733751.2:p.(Arg894Gln)	NC_000007.13:g.151932990C>T	(Likely) benign	1 lab	8e3f2d7448
13:32893258 BRCA2 G>A	13	32893258	32893258	G	A	BRCA2	c.112G>A	NM_000059.4	NP_000050.3:p.(Glu38Lys)	NC_000013.10:g.32893258G>A	VUS	1 lab	073148b48b
X:44922719 KDM6A C>G	X	44922719	44922719	C	G	KDM6A	c.1580C>G	NM_021140.3	NP_066963.2:p.(Pro527Arg)	NC_000023.10:g.44922719C>G	VUS	1 lab	8e41264e71
13:49039504 RB1 G>A	13	49039504	49039504	G	A	RB1	c.2489G>A	NM_000321.3	NP_000312.2:p.(Arg830Lys)	NC_000013.10:g.49039504G>A	(Likely) pathogenic	1 lab	0733d0cd1d
6:70979324 COL9A1 A>G	6	70979324	70979324	A	G	COL9A1	c.1230+12T>C	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70979324A>G	(Likely) benign	1 lab	8e4526fda6
5:112175586 APC CACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAA>C	5	112175586	112175639	CACCAAGCAGAAGTAAAACACCTCCACCACCTCCTCAAACAGCTCAA	C	APC	c.4303_4348del	NM_000038.6	NP_000029.2:p.(Arg1435GlufsTer23)	NC_000005.9:g.112175594_112175639del	(Likely) pathogenic	1 lab	8e46d260d8
9:126134542 CRB2 G>A	9	126134542	126134542	G	A	CRB2	c.2523G>A	NM_173689.7	NP_775960.4:p.(Thr841=)	NC_000009.11:g.126134542G>A	(Likely) benign	1 lab	8e47ccfdd4
7:36450777 ANLN T>A	7	36450777	36450777	T	A	ANLN	c.1395+2T>A	NM_018685.5	NP_061155.2:p.?	NC_000007.13:g.36450777T>A	VUS	1 lab	8e4a7a90b1
12:48368128 COL2A1 G>C	12	48368128	48368128	G	C	COL2A1	c.4075-14C>G	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48368128G>C	(Likely) benign	1 lab	8e4bff58a8
2:167266241 SCN7A G>A	2	167266241	167266241	G	A	SCN7A	c.3916C>T	NM_002976.4	NP_002967.2:p.(Arg1306Cys)	NC_000002.11:g.167266241G>A	VUS	1 lab	8e4c810a6e
4:151199080 LRBA G>A	4	151199080	151199080	G	A	LRBA	c.8426C>T	NM_006726.4	NP_006717.2:p.(Ser2809Leu)	NC_000004.11:g.151199080G>A	(Likely) benign	1 lab	8e4e1bf7f6
17:62018151 SCN4A C>T	17	62018151	62018151	C	T	SCN4A	c.5491G>A	NM_000334.4	NP_000325.4:p.(Val1831Ile)	NC_000017.10:g.62018151C>T	VUS	1 lab	8e50e5c5c5
13:32971117 BRCA2 C>T	13	32971117	32971117	C	T	BRCA2	c.9584C>T	NM_000059.3	NP_000050.2:p.(Thr3195Ile)	NC_000013.10:g.32971117C>T	(Likely) benign	1 lab	8e530cf732
13:32912207 BRCA2 A>G	13	32912207	32912207	A	G	BRCA2	c.3715A>G	NM_000059.3	NP_000050.2:p.(Lys1239Glu)	NC_000013.10:g.32912207A>G	(Likely) benign	1 lab	8e546aabcc
7:6026809 PMS2 C>T	7	6026809	6026809	C	T	PMS2	c.1587G>A	NM_000535.6	NP_000526.2:p.(Ser529=)	NC_000007.13:g.6026809C>T	(Likely) benign	1 lab	8e57d56b5a
X:153416280 OPN1LW A>G	X	153416280	153416280	A	G	OPN1LW	c.265A>G	NM_020061.5	NP_064445.2:p.(Asn89Asp)	NC_000023.10:g.153416280A>G	VUS	1 lab	8e59aa6026
10:105046853 INA T>C	10	105046853	105046853	T	C	INA	c.1127T>C	NM_032727.3	NP_116116.1:p.(Leu376Pro)	NC_000010.10:g.105046853T>C	VUS	1 lab	8e5b62f3f2
15:38632017 SPRED1 A>AT	15	38632017	38632018	A	AT	SPRED1	c.504dup	NM_152594.3	NP_689807.1:p.(Arg169Ter)	NC_000015.9:g.38632018dup	(Likely) pathogenic	1 lab	8e5bf76c16
11:47360105 MYBPC3 G>A	11	47360105	47360105	G	A	MYBPC3	c.2274C>T	NM_000256.3	NP_000247.2:p.(Gly758=)	NC_000011.9:g.47360105G>A	VUS	1 lab	8e5cad03c5
6:135754173 AHI1 T>A	6	135754173	135754173	T	A	AHI1	c.2258A>T	NM_017651.4	NP_060121.3:p.(Asp753Val)	NC_000006.11:g.135754173T>A	(Likely) pathogenic	1 lab	8e5e10c7d8
11:64572494 MEN1 GCTGTCCCTCAC>G	11	64572494	64572515	GCTGTCCCTCAC	G	MEN1	c.1350+1_1350+11del	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64572505_64572515del	(Likely) pathogenic	1 lab	8e5ed53d04
X:154221237 F8 A>G	X	154221237	154221237	A	G	F8	c.575T>C	NM_000132.3	NP_000123.1:p.(Ile192Thr)	NC_000023.10:g.154221237A>G	(Likely) pathogenic	1 lab	8e610ec32e
16:56531672 BBS2 G>A	16	56531672	56531672	G	A	BBS2	c.1780C>T	NM_031885.5	NP_114091.4:p.(Arg594Ter)	NC_000016.9:g.56531672G>A	(Likely) pathogenic	1 lab	0738698b08
5:112175282 APC A>T	5	112175282	112175282	A	T	APC	c.3991A>T	NM_000038.6	NP_000029.2:p.(Arg1331Ter)	NC_000005.9:g.112175282A>T	(Likely) pathogenic	1 lab	8e62b85ce3
11:121023600 TECTA C>A	11	121023600	121023600	C	A	TECTA				NC_000011.9:g.121023600C>A	(Likely) pathogenic	1 lab	8e63cfddb3
2:61259060 PEX13 G>A	2	61259060	61259060	G	A	PEX13	c.599G>A	NM_002618.3	NP_002609.1:p.(Gly200Asp)	NC_000002.11:g.61259060G>A	VUS	1 lab	8e64ae96d6
7:6012917 PMS2 G>A	7	6012917	6012917	G	A	PMS2	c.*113C>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6012917G>A	(Likely) benign	1 lab	8e64b6e025
9:123731408 C5 G>A	9	123731408	123731408	G	A	C5	c.4163-12C>T	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123731408G>A	(Likely) benign	1 lab	8e64c3fc69
2:179464581 TTN GATT>G	2	179464581	179464587	GATT	G	TTN	c.56051-7_56051-5del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179464585_179464587del	(Likely) benign	1 lab	8e65b54461
22:17590327 IL17RA C>T	22	17590327	17590327	C	T	IL17RA				NC_000022.10:g.17590327C>T	VUS	1 lab	8e6a27da3f
19:33334775 SLC7A9 C>T	19	33334775	33334775	C	T	SLC7A9	c.1060G>A	NM_014270.4	NP_055085.1:p.(Ala354Thr)	NC_000019.9:g.33334775C>T	VUS	1 lab	8e6ac9248e
1:230849872 AGT C>T	1	230849872	230849872	C	T	AGT	c.-44G>A	NM_000029.3	NP_000020.1:p.?	NC_000001.10:g.230849872C>T	(Likely) benign	1 lab	8e6c61d044
1:241671945 FH TC>T	1	241671945	241671947	TC	T	FH	c.695del	NM_000143.4	NP_000134.2:p.(Gly232AspfsTer24)	NC_000001.10:g.241671947del	(Likely) pathogenic	1 lab	8e6e24c536
6:149699669 TAB2 C>CA	6	149699669	149699670	C	CA	TAB2	c.619dup	NM_015093.4	NP_055908.1:p.(Ser207LysfsTer10)	NC_000006.11:g.149699670dup	(Likely) pathogenic	1 lab	8e6fa8165a
2:1795781 MYT1L T>C	2	1795781	1795781	T	C	MYT1L	c.3421-2A>G	NM_001303052.2	NP_001289981.1:p.?	NC_000002.11:g.1795781T>C	VUS	1 lab	8e70396662
11:3849232 RHOG A>G	11	3849232	3849232	A	G	RHOG	c.137T>C	NM_001665.4	NP_001656.2:p.(Val46Ala)	NC_000011.9:g.3849232A>G	VUS	1 lab	0739e51582
13:32906430 BRCA2 A>T	13	32906430	32906430	A	T	BRCA2	c.815A>T	NM_000059.3	NP_000050.2:p.(Asn272Ile)	NC_000013.10:g.32906430A>T	VUS	1 lab	8e732f4587
12:133196269 P2RX2 G>T	12	133196269	133196269	G	T	P2RX2	c.314G>T	NM_170683.3	NP_733783.1:p.(Gly105Val)	NC_000012.11:g.133196269G>T	VUS	1 lab	8e73de8d46
11:123513186 SCN3B G>A	11	123513186	123513186	G	A	SCN3B	c.413C>T	NM_001040151.2	NP_001035241.1:p.(Thr138Met)	NC_000011.9:g.123513186G>A	VUS	1 lab	8e788289e9
X:76813089 ATRX G>A	X	76813089	76813089	G	A	ATRX	c.6532C>T	NM_000489.3	NP_000480.2:p.(Arg2178Trp)	NC_000023.10:g.76813089G>A	(Likely) pathogenic	1 lab	8e7abd2c5e
2:202593927 ALS2 AG>A	2	202593927	202593929	AG	A	ALS2	c.2581-22del	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202593929del	(Likely) benign	1 lab	0d8d9f3c7a
7:30638491 GARS1 G>A	7	30638491	30638491	G	A	GARS1	c.302G>A	NM_002047.4	NP_002038.2:p.(Arg101His)	NC_000007.13:g.30638491G>A	VUS	1 lab	8e7bd0ba73
2:179404473 TTN A>G	2	179404473	179404473	A	G	TTN	c.98319T>C	NM_001267550.2	NP_001254479.2:p.(Tyr32773=)	NC_000002.11:g.179404473A>G	(Likely) benign	1 lab	8e7dddc1bc
1:103496813 COL11A1 A>AAAAC	1	103496813	103496817	A	AAAAC	COL11A1	c.652-14_652-13insGTTT	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103496816_103496817insCAAA	(Likely) benign	1 lab	8e7f28a73c
19:50905524 POLD1 C>T	19	50905524	50905524	C	T	POLD1	c.652C>T	NM_001256849.1	NP_001243778.1:p.(Arg218Cys)	NC_000019.9:g.50905524C>T	VUS	1 lab	074366d6a2
15:51260460 AP4E1 G>A	15	51260460	51260460	G	A	AP4E1	c.1852G>A	NM_007347.5	NP_031373.2:p.(Val618Ile)	NC_000015.9:g.51260460G>A	VUS	1 lab	074a076319
1:216500998 USH2A T>G	1	216500998	216500998	T	G	USH2A				NC_000001.10:g.216500998T>G	(Likely) pathogenic	1 lab	8e81f14f46
19:55670642 DNAAF3 C>T	19	55670642	55670642	C	T	DNAAF3				NC_000019.9:g.55670642C>T	(Likely) benign	1 lab	8e858ba4d5
14:24729231 TGM1 C>T	14	24729231	24729231	C	T	TGM1	c.791G>A	NM_000359.3	NP_000350.1:p.(Arg264Gln)	NC_000014.8:g.24729231C>T	(Likely) pathogenic	1 lab	074a8d57ec
20:3193844 ITPA A>G	20	3193844	3193844	A	G	ITPA	c.96A>G	NM_033453.3	NP_258412.1:p.(Pro32=)	NC_000020.10:g.3193844A>G	(Likely) benign	1 lab	8e879d5633
13:32929271 BRCA2 CT>C	13	32929271	32929273	CT	C	BRCA2	c.7283del	NM_000059.4	NP_000050.3:p.(Leu2428TrpfsTer39)	NC_000013.10:g.32929273del	(Likely) pathogenic	1 lab	074dd0923a
17:44111613 KANSL1 A>G	17	44111613	44111613	A	G	KANSL1				NC_000017.10:g.44111613A>G	(Likely) benign	1 lab	8e8d50f232
X:135290107 FHL1 T>G	X	135290107	135290107	T	G	FHL1	c.536T>G	NM_001159699.2	NP_001153171.1:p.(Val179Gly)	NC_000023.10:g.135290107T>G	VUS	1 lab	8e8d5e3947
1:11106935 MASP2 G>A	1	11106935	11106935	G	A	MASP2	c.234+13C>T	NM_006610.4	NP_006601.2:p.?	NC_000001.10:g.11106935G>A	(Likely) benign	1 lab	0d9045d691
1:2234482 SKI G>A	1	2234482	2234482	G	A	SKI	c.1035G>A	NM_003036.3	NP_003027.1:p.(Ala345=)	NC_000001.10:g.2234482G>A	(Likely) benign	1 lab	8e8fb7ea97
22:38369799 SOX10 GTGTGGGGGCCCCTGGGGCC>G	22	38369799	38369818	GTGTGGGGGCCCCTGGGGCC	G	SOX10	c.1085_1103del	NM_006941.4	NP_008872.1:p.(Gly362AlafsTer134)	NC_000022.10:g.38369800_38369818del	(Likely) pathogenic	1 lab	8e8fd0af99
5:112151261 APC C>T	5	112151261	112151261	C	T	APC	c.904C>T	NM_000038.5	NP_000029.2:p.(Arg302Ter)	NC_000005.9:g.112151261C>T	(Likely) pathogenic	1 lab	8e913c07bc
7:6048693 PMS2 T>C	7	6048693	6048693	T	C	PMS2	c.-43A>G	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6048693T>C	(Likely) benign	1 lab	8e976145cd
17:29554308 NF1 A>T	17	29554308	29554308	A	T	NF1	c.2324A>T	NM_001042492.3	NP_001035957.1:p.(Glu775Val)	NC_000017.10:g.29554308A>T	(Likely) pathogenic	1 lab	8e977043c5
12:103234270 PAH C>T	12	103234270	103234270	C	T	PAH	c.1223G>A	NM_000277.3	NP_000268.1:p.(Arg408Gln)	NC_000012.11:g.103234270C>T	(Likely) pathogenic	1 lab	0d906e6945
5:45396488 HCN1 CT>C	5	45396488	45396500	CT	C	HCN1	c.1230+105del	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45396500del	(Likely) benign	1 lab	0d9272c28f
4:113825611 ANK2 G>C	4	113825611	113825611	G	C	ANK2				NC_000004.11:g.113825611G>C	(Likely) benign	1 lab	8e9e4848ab
1:168056912 GPR161 G>A	1	168056912	168056912	G	A	GPR161	c.1295C>T	NM_001267609.1	NP_001254538.1:p.(Thr432Met)	NC_000001.10:g.168056912G>A	VUS	1 lab	074e0500d2
17:79478107 ACTG1 G>A	17	79478107	79478107	G	A	ACTG1	c.830C>T	NM_001614.5	NP_001605.1:p.(Thr277Ile)	NC_000017.10:g.79478107G>A	VUS	1 lab	8ea452ab09
3:49459114 AMT A>C	3	49459114	49459114	A	C	AMT	c.259-109T>G	NM_000481.3	NP_000472.2:p.?	NC_000003.11:g.49459114A>C	(Likely) benign	1 lab	0d948f380a
16:23649480 PALB2 G>C	16	23649480	23649480	G	C	PALB2	c.49-30C>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649480G>C	(Likely) benign	1 lab	8eac35919d
1:169483582 F5 C>T	1	169483582	169483582	C	T	F5	c.6644G>A	NM_000130.4	NP_000121.2:p.(Arg2215His)	NC_000001.10:g.169483582C>T	VUS	1 lab	8eacfc6448
4:114267183 ANK2 C>T	4	114267183	114267183	C	T	ANK2	c.4371+5C>T	NM_001148.5	NP_001139.3:p.?	NC_000004.11:g.114267183C>T	(Likely) benign	1 lab	8ead7a287d
4:155528085 FGG G>A	4	155528085	155528085	G	A	FGG	c.901C>T	NM_000509.6	NP_000500.2:p.(Arg301Cys)	NC_000004.11:g.155528085G>A	(Likely) pathogenic	1 lab	8eaf2a2cf9
1:196642110 CFH T>A	1	196642110	196642110	T	A	CFH	c.61T>A	NM_000186.3	NP_000177.2:p.(Cys21Ser)	NC_000001.10:g.196642110T>A	(Likely) pathogenic	1 lab	8eb1fb6ec6
13:32953427 BRCA2 T>G	13	32953427	32953427	T	G	BRCA2	c.8755-27T>G	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32953427T>G	(Likely) benign	1 lab	8eb28c87cc
10:73578787 PSAP C>T	10	73578787	73578787	C	T	PSAP	c.1431+1G>A	NM_002778.4	NP_002769.1:p.?	NC_000010.10:g.73578787C>T	(Likely) pathogenic	1 lab	074f115a27
12:107125970 RFX4 C>T	12	107125970	107125970	C	T	RFX4	c.1414C>T	NM_213594.3	NP_998759.1:p.(His472Tyr)	NC_000012.11:g.107125970C>T	(Likely) benign	1 lab	8eb362a458
20:47990875 KCNB1 G>A	20	47990875	47990875	G	A	KCNB1	c.1222C>T	NM_004975.4	NP_004966.1:p.(Pro408Ser)	NC_000020.10:g.47990875G>A	(Likely) pathogenic	1 lab	8eb92af7b2
15:73621988 HCN4 A>T	15	73621988	73621988	A	T	HCN4	c.1516T>A	NM_005477.2	NP_005468.1:p.(Tyr506Asn)	NC_000015.9:g.73621988A>T	(Likely) pathogenic	1 lab	8ebad2fa85
3:123357030 MYLK A>G	3	123357030	123357030	A	G	MYLK	c.4849T>C	NM_053025.3	NP_444253.3:p.(Ser1617Pro)	NC_000003.11:g.123357030A>G	VUS	1 lab	0d94bb0012
17:7577091 TP53 G>A	17	7577091	7577091	G	A	TP53	c.847C>T	NM_000546.5	NP_000537.3:p.(Arg283Cys)	NC_000017.10:g.7577091G>A	(Likely) benign	1 lab	8ec33df374
10:89692849 PTEN G>T	10	89692849	89692849	G	T	PTEN	c.333G>T	NM_000314.4	NP_000305.3:p.(Trp111Cys)	NC_000010.10:g.89692849G>T	(Likely) pathogenic	1 lab	8ec4ea3e01
2:179583300 TTN G>GC	2	179583300	179583302	G	GC	TTN	c.24532dup	NM_001267550.1	NP_001254479.1:p.(Ala8178GlyfsTer2)	NC_000002.11:g.179583302dup	VUS	1 lab	0d971776c4
X:53449458 SMC1A A>G	X	53449458	53449458	A	G	SMC1A	c.92T>C	NM_006306.4	NP_006297.2:p.(Ile31Thr)	NC_000023.10:g.53449458A>G	(Likely) pathogenic	1 lab	8eca4b6cc3
X:54494263 FGD1 G>A	X	54494263	54494263	G	A	FGD1	c.1294C>T	NM_004463.3	NP_004454.2:p.(His432Tyr)	NC_000023.10:g.54494263G>A	(Likely) pathogenic	1 lab	07544ca98c
1:196659178 CFH T>C	1	196659178	196659178	T	C	CFH	c.1160-15T>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196659178T>C	(Likely) benign	1 lab	8ed17df26e
3:38760264 SCN10A C>T	3	38760264	38760264	C	T	SCN10A	c.3561G>A	NM_006514.3	NP_006505.3:p.(Glu1187=)	NC_000003.11:g.38760264C>T	(Likely) benign	1 lab	8ed38fde69
11:108124758 ATM T>C	11	108124758	108124758	T	C	ATM	c.2116T>C	NM_000051.4	NP_000042.3:p.(Ser706Pro)	NC_000011.9:g.108124758T>C	VUS	1 lab	8ed3d27e20
15:72109959 NR2E3 CTT>C	15	72109959	72109964	CTT	C	NR2E3	c.1171_1172del	NM_014249.2	NP_055064.1:p.(Phe391ProfsTer15)	NC_000015.9:g.72109963_72109964del	(Likely) pathogenic	1 lab	8ed3ecb96f
8:65509087 CYP7B1 G>T	8	65509087	65509087	G	T	CYP7B1	c.*112C>A	NM_004820.3	NP_004811.1:p.?	NC_000008.10:g.65509087G>T	(Likely) benign	1 lab	8ed41c337f
10:97983642 BLNK G>A	10	97983642	97983642	G	A	BLNK	c.465C>T	NM_013314.3	NP_037446.1:p.(Ala155=)	NC_000010.10:g.97983642G>A	(Likely) benign	1 lab	0d9b645946
3:38962543 SCN11A G>A	3	38962543	38962543	G	A	SCN11A	c.892+24C>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38962543G>A	(Likely) benign	1 lab	8ed888d68b
19:35524783 SCN1B G>A	19	35524783	35524783	G	A	SCN1B	c.588G>A	NM_199037.4	NP_950238.1:p.(Gly196=)	NC_000019.9:g.35524783G>A	(Likely) benign	1 lab	8ed97bc8bc
20:61039916 GATA5 G>C	20	61039916	61039916	G	C	GATA5	c.1170C>G	NM_080473.5	NP_536721.1:p.(Ala390=)	NC_000020.10:g.61039916G>C	(Likely) benign	1 lab	0d9d964d8c
X:15339881 PIGA A>C	X	15339881	15339881	A	C	PIGA	c.1202T>G	NM_002641.3	NP_002632.1:p.(Val401Gly)	NC_000023.10:g.15339881A>C	VUS	1 lab	8ee1ae1763
12:121177159 ACADS C>T	12	121177159	121177159	C	T	ACADS	c.1147C>T	NM_000017.4	NP_000008.1:p.(Arg383Cys)	NC_000012.11:g.121177159C>T	(Likely) pathogenic	1 lab	8ee2d21d4a
10:122664872 WDR11 G>A	10	122664872	122664872	G	A	WDR11	c.3235G>A	NM_018117.12	NP_060587.8:p.(Ala1079Thr)	NC_000010.10:g.122664872G>A	VUS	1 lab	8ee4482f2e
12:121987442 KDM2B G>A	12	121987442	121987442	G	A	KDM2B	c.499C>T	NM_032590.4	NP_115979.3:p.(Arg167Trp)	NC_000012.11:g.121987442G>A	VUS	1 lab	8ee6087132
15:28202839 OCA2 C>G	15	28202839	28202839	C	G	OCA2	c.1679G>C	NM_000275.2	NP_000266.2:p.(Arg560Pro)	NC_000015.9:g.28202839C>G	VUS	1 lab	8ee72c22da
12:9020561 A2ML1 G>T	12	9020561	9020561	G	T	A2ML1	c.3841G>T	NM_144670.4	NP_653271.2:p.(Val1281Phe)	NC_000012.11:g.9020561G>T	(Likely) benign	1 lab	8eea191324
2:227922261 COL4A4 TC>T	2	227922261	227922264	TC	T	COL4A4	c.2438del	NM_000092.4	NP_000083.3:p.(Gly813AspfsTer56)	NC_000002.11:g.227922264del	(Likely) pathogenic	1 lab	8eebce03a5
19:5679630 MICOS13 G>T	19	5679630	5679630	G	T	MICOS13	c.174C>A	NM_205767.3	NP_991330.1:p.(Tyr58Ter)	NC_000019.9:g.5679630G>T	(Likely) pathogenic	1 lab	8eebeb7777
2:27460968 CAD A>G	2	27460968	27460968	A	G	CAD	c.4773A>G	NM_004341.4	NP_004332.2:p.(Ala1591=)	NC_000002.11:g.27460968A>G	(Likely) benign	1 lab	8eee524a76
6:51889903 PKHD1 A>C	6	51889903	51889903	A	C	PKHD1	c.4705T>G	NM_138694.3	NP_619639.3:p.(Phe1569Val)	NC_000006.11:g.51889903A>C	VUS	1 lab	8eef515b9e
13:100637702 ZIC2 A>AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG	13	100637702	100637743	A	AGCGGCGGCGGCAGCGGCGGCGGCGGCTGCG	ZIC2	c.1377_1406dup	NM_007129.3	NP_009060.2:p.(Ala461_Ala470dup)	NC_000013.10:g.100637714_100637743dup	(Likely) pathogenic	1 lab	8ef0264a8c
1:3328207 PRDM16 C>T	1	3328207	3328207	C	T	PRDM16	c.1446C>T	NM_022114.3	NP_071397.3:p.(Ser482=)	NC_000001.10:g.3328207C>T	(Likely) benign	1 lab	8ef0383a9f
7:150655344 KCNH2 G>A	7	150655344	150655344	G	A	KCNH2	c.719C>T	NM_000238.3	NP_000229.1:p.(Pro240Leu)	NC_000007.13:g.150655344G>A	(Likely) benign	1 lab	8ef23a055c
2:179439460 TTN C>G	2	179439460	179439460	C	G	TTN	c.63695G>C	NM_133378.4	NP_596869.4:p.(Arg21232Pro)	NC_000002.11:g.179439460C>G	VUS	1 lab	8ef5e3fefb
3:67426290 SUCLG2 G>A	3	67426290	67426290	G	A	SUCLG2	c.1184-7C>T	NM_003848.4	NP_003839.2:p.?	NC_000003.11:g.67426290G>A	(Likely) benign	1 lab	8ef82a2bdc
10:88451424 LDB3 TC>T	10	88451424	88451425	TC	T	LDB3	c.690-228del	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88451425del	(Likely) benign	1 lab	8ef914aa1a
13:23929751 SACS TCACTCTAAA>T	13	23929751	23929763	TCACTCTAAA	T	SACS	c.991_999del	NM_014363.5	NP_055178.3:p.(Phe331_Val333del)	NC_000013.10:g.23929755_23929763del	VUS	1 lab	8efa1b0446
12:133212582 POLE G>A	12	133212582	133212582	G	A	POLE	c.5707C>T	NM_006231.2	NP_006222.2:p.(Leu1903=)	NC_000012.11:g.133212582G>A	(Likely) benign	1 lab	8efaa0a7d8
15:35083510 ACTC1 ACACACACACACACACACAC>A	15	35083510	35083529	ACACACACACACACACACAC	A	ACTC1	c.809-33_809-15del	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083511_35083529del	(Likely) benign	1 lab	8f0046ac57
17:73761094 GALK1 C>T	17	73761094	73761094	C	T	GALK1	c.124G>A	NM_000154.1	NP_000145.1:p.(Gly42Arg)	NC_000017.10:g.73761094C>T	VUS	1 lab	8f00c6d4a6
6:32008714 TNXB G>A	6	32008714	32008714	G	A	TNXB				NC_000006.11:g.32008714G>A	(Likely) pathogenic	1 lab	8f01c26e1d
22:41573576 EP300 A>C	22	41573576	41573576	A	C	EP300	c.5861A>C	NM_001429.3	NP_001420.2:p.(His1954Pro)	NC_000022.10:g.41573576A>C	VUS	1 lab	8f02f969eb
14:23897863 MYH7 T>A	14	23897863	23897863	T	A	MYH7	c.1424A>T	NM_000257.2	NP_000248.2:p.(Gln475Leu)	NC_000014.8:g.23897863T>A	VUS	1 lab	8f039f0ad9
X:152994682 ABCD1 C>A	X	152994682	152994682	C	A	ABCD1	c.901-5C>A	NM_000033.3	NP_000024.2:p.?	NC_000023.10:g.152994682C>A	(Likely) pathogenic	1 lab	8f03f5e78b
2:241715300 KIF1A G>A	2	241715300	241715300	G	A	KIF1A	c.926C>T	NM_001244008.2	NP_001230937.1:p.(Ser309Phe)	NC_000002.11:g.241715300G>A	VUS	1 lab	8f075717a4
17:18053795 MYO15A C>T	17	18053795	18053795	C	T	MYO15A	c.7265C>T	NM_016239.3	NP_057323.3:p.(Pro2422Leu)	NC_000017.10:g.18053795C>T	VUS	1 lab	8f0b8301fc
11:108099863 ATM G>T	11	108099863	108099863	G	T	ATM	c.186-42G>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108099863G>T	(Likely) benign	1 lab	8f0c3c28f7
3:37070414 MLH1 G>T	3	37070414	37070414	G	T	MLH1	c.1549G>T	NM_000249.3	NP_000240.1:p.(Gly517Ter)	NC_000003.11:g.37070414G>T	(Likely) pathogenic	1 lab	8f14298fe9
5:112174515 APC AT>A	5	112174515	112174516	AT	A	APC	c.3225del	NM_000038.6	NP_000029.2:p.(Pro1076LeufsTer50)	NC_000005.9:g.112174516del	(Likely) pathogenic	1 lab	8f147138bb
6:79650641 PHIP C>G	6	79650641	79650641	C	G	PHIP	c.5235G>C	NM_017934.7	NP_060404.4:p.(Lys1745Asn)	NC_000006.11:g.79650641C>G	(Likely) benign	1 lab	0756c73e87
3:38938500 SCN11A G>A	3	38938500	38938500	G	A	SCN11A	c.2239C>T	NM_001349253.2	NP_001336182.1:p.(Arg747Trp)	NC_000003.11:g.38938500G>A	VUS	1 lab	8f159f7fc1
10:75871814 VCL C>T	10	75871814	75871814	C	T	VCL	c.2893C>T	NM_014000.3	NP_054706.1:p.(Pro965Ser)	NC_000010.10:g.75871814C>T	VUS	1 lab	8f15b42715
11:108117725 ATM A>G	11	108117725	108117725	A	G	ATM	c.936A>G	NM_000051.3	NP_000042.3:p.(Leu312=)	NC_000011.9:g.108117725A>G	(Likely) benign	1 lab	8f15c10971
21:36252986 RUNX1 C>G	21	36252986	36252986	C	G	RUNX1	c.376G>C	NM_001754.5	NP_001745.2:p.(Asp126His)	NC_000021.8:g.36252986C>G	VUS	1 lab	8f172d84a9
19:55668992 TNNI3 G>T	19	55668992	55668992	G	T	TNNI3	c.-35C>A	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668992G>T	(Likely) benign	1 lab	8f174e676e
11:1097685 MISSING A>G	11	1097685	1097685	A	G	MISSING				NC_000011.9:g.1097685A>G	(Likely) benign	1 lab	8f1ac087a5
15:86122425 AKAP13 G>A	15	86122425	86122425	G	A	AKAP13	c.1126G>A	NM_006738.6	NP_006729.4:p.(Val376Met)	NC_000015.9:g.86122425G>A	(Likely) benign	1 lab	0da72e216c
12:32955344 PKP2 A>T	12	32955344	32955344	A	T	PKP2	c.2292T>A	NM_004572.3	NP_004563.2:p.(Asn764Lys)	NC_000012.11:g.32955344A>T	VUS	1 lab	8f1dc292bc
16:89220527 ACSF3 C>T	16	89220527	89220527	C	T	ACSF3	c.1643C>T	NM_174917.4	NP_777577.2:p.(Ser548Leu)	NC_000016.9:g.89220527C>T	VUS	1 lab	8f2181b64a
2:48027712 MSH6 G>A	2	48027712	48027712	G	A	MSH6	c.2590G>A	NM_000179.2	NP_000170.1:p.(Gly864Arg)	NC_000002.11:g.48027712G>A	VUS	1 lab	8f2321a57f
12:2717693 CACNA1C A>G	12	2717693	2717693	A	G	CACNA1C	c.3373A>G	NM_000719.7	NP_000710.5:p.(Ile1125Val)	NC_000012.11:g.2717693A>G	VUS	1 lab	07587755aa
X:12940056 TLR8 G>A	X	12940056	12940056	G	A	TLR8	c.2897G>A	NM_138636.5	NP_619542.1:p.(Arg966Lys)	NC_000023.10:g.12940056G>A	VUS	1 lab	075943cdb3
6:33414564 SYNGAP1 G>A	6	33414564	33414564	G	A	SYNGAP1	c.3794+1G>A	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33414564G>A	(Likely) pathogenic	1 lab	8f28b531c9
3:130187662 COL6A5 G>T	3	130187662	130187662	G	T	COL6A5	c.6814G>T	NM_001278298.2	NP_001265227.1:p.(Glu2272Ter)	NC_000003.11:g.130187662G>T	(Likely) benign	1 lab	8f28ddb2ee
11:47355487 MYBPC3 G>A	11	47355487	47355487	G	A	MYBPC3	c.2980C>T	NM_000256.3	NP_000247.2:p.(Leu994Phe)	NC_000011.9:g.47355487G>A	VUS	1 lab	075d547e0b
1:167815089 ADCY10 G>A	1	167815089	167815089	G	A	ADCY10	c.2719C>T	NM_018417.5	NP_060887.2:p.(His907Tyr)	NC_000001.10:g.167815089G>A	(Likely) benign	1 lab	8f2b738199
12:51092131 DIP2B C>T	12	51092131	51092131	C	T	DIP2B				NC_000012.11:g.51092131C>T	VUS	1 lab	8f2c72b907
10:69961636 MYPN G>A	10	69961636	69961636	G	A	MYPN	c.3544G>A	NM_032578.4	NP_115967.2:p.(Gly1182Ser)	NC_000010.10:g.69961636G>A	VUS	1 lab	0760410faa
1:197073674 ASPM G>T	1	197073674	197073674	G	T	ASPM	c.4707C>A	NM_018136.4	NP_060606.3:p.(Tyr1569Ter)	NC_000001.10:g.197073674G>T	(Likely) pathogenic	1 lab	8f2e56aa7e
1:43392878 SLC2A1 G>C	1	43392878	43392878	G	C	SLC2A1	c.1313C>G	NM_006516.2	NP_006507.2:p.(Thr438Ser)	NC_000001.10:g.43392878G>C	VUS	1 lab	8f2ffaccc8
1:41285584 KCNQ4 C>A	1	41285584	41285584	C	A	KCNQ4	c.872C>A	NM_004700.3	NP_004691.2:p.(Pro291Gln)	NC_000001.10:g.41285584C>A	(Likely) pathogenic	1 lab	8f34643b29
6:45399736 RUNX2 T>C	6	45399736	45399736	T	C	RUNX2	c.560T>C	NM_001024630.4	NP_001019801.3:p.(Phe187Ser)	NC_000006.11:g.45399736T>C	(Likely) pathogenic	1 lab	8f35bf75ca
X:107824250 COL4A5 G>A	X	107824250	107824250	G	A	COL4A5	c.929G>A	NM_033380.3	NP_203699.1:p.(Gly310Glu)	NC_000023.10:g.107824250G>A	(Likely) pathogenic	1 lab	8f36bf1dde
3:52366411 DNAH1 G>A	3	52366411	52366411	G	A	DNAH1	c.1286+1G>A	NM_015512.5	NP_056327.4:p.?	NC_000003.11:g.52366411G>A	(Likely) pathogenic	1 lab	8f38d3307e
7:143018933 CLCN1 G>A	7	143018933	143018933	G	A	CLCN1	c.688G>A	NM_000083.3	NP_000074.3:p.(Gly230Arg)	NC_000007.13:g.143018933G>A	VUS	1 lab	8f3a7ed160
3:136141704 STAG1 A>G	3	136141704	136141704	A	G	STAG1	c.1744-5T>C	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136141704A>G	(Likely) benign	1 lab	0761a8cd10
4:77677940 SHROOM3 C>G	4	77677940	77677940	C	G	SHROOM3	c.5048C>G	NM_020859.4	NP_065910.3:p.(Ala1683Gly)	NC_000004.11:g.77677940C>G	VUS	1 lab	8f3b69030e
7:107340607 SLC26A4 G>A	7	107340607	107340607	G	A	SLC26A4	c.1694G>A	NM_000441.1	NP_000432.1:p.(Cys565Tyr)	NC_000007.13:g.107340607G>A	(Likely) pathogenic	1 lab	8f3ccbbd97
17:41246306 BRCA1 G>A	17	41246306	41246306	G	A	BRCA1	c.1242C>T	NM_007294.3	NP_009225.1:p.(Asp414=)	NC_000017.10:g.41246306G>A	(Likely) benign	1 lab	8f3f3b6fe0
10:89685315 PTEN G>C	10	89685315	89685315	G	C	PTEN	c.209+1G>C	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89685315G>C	(Likely) pathogenic	1 lab	8f3fc6ae11
10:89692924 PTEN T>A	10	89692924	89692924	T	A	PTEN	c.408T>A	NM_000314.4	NP_000305.3:p.(Cys136Ter)	NC_000010.10:g.89692924T>A	(Likely) pathogenic	1 lab	8f41fe027d
9:104133278 BAAT C>T	9	104133278	104133278	C	T	BAAT	c.409G>A	NM_001701.4	NP_001692.1:p.(Val137Ile)	NC_000009.11:g.104133278C>T	(Likely) benign	1 lab	076730be58
2:166243313 SCN2A A>C	2	166243313	166243313	A	C	SCN2A	c.4609A>C	NM_001040142.2	NP_001035232.1:p.(Ile1537Leu)	NC_000002.11:g.166243313A>C	(Likely) pathogenic	1 lab	8f4577af96
7:128481060 FLNC G>A	7	128481060	128481060	G	A	FLNC	c.1813+36G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128481060G>A	(Likely) benign	1 lab	8f4970a992
7:16131260 CRPPA C>T	7	16131260	16131260	C	T	CRPPA	c.*60G>A	NM_001101426.3	NP_001094896.1:p.?	NC_000007.13:g.16131260C>T	(Likely) benign	1 lab	8f4c5678c5
18:48575748 SMAD4 T>G	18	48575748	48575748	T	G	SMAD4	c.454+54T>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48575748T>G	(Likely) benign	1 lab	8f4e894170
7:98478778 TRRAP C>T	7	98478778	98478778	C	T	TRRAP	c.5C>T	NM_001375524.1	NP_001362453.1:p.(Ala2Val)	NC_000007.13:g.98478778C>T	VUS	1 lab	8f546cd281
11:47380355 SPI1 G>A	11	47380355	47380355	G	A	SPI1	c.493+40C>T	NM_003120.3	NP_003111.2:p.?	NC_000011.9:g.47380355G>A	(Likely) benign	1 lab	8f55eb5052
16:23633004 PALB2 G>A	16	23633004	23633004	G	A	PALB2	c.2997-205C>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23633004G>A	(Likely) benign	1 lab	8f568b6897
1:1271895 DVL1 C>G	1	1271895	1271895	C	G	DVL1	c.1640G>C	NM_004421.2	NP_004412.2:p.(Gly547Ala)	NC_000001.10:g.1271895C>G	(Likely) benign	1 lab	8f57bbb310
11:47364641 MYBPC3 A>G	11	47364641	47364641	A	G	MYBPC3	c.1282T>C	NM_000256.3	NP_000247.2:p.(Leu428=)	NC_000011.9:g.47364641A>G	(Likely) benign	1 lab	8f5e4bacb0
21:46321390 ITGB2 AG>A	21	46321390	46321394	AG	A	ITGB2	c.741+16del	NM_000211.5	NP_000202.3:p.?	NC_000021.8:g.46321394del	(Likely) benign	1 lab	0da8201003
1:196874312 CFHR4 G>A	1	196874312	196874312	G	A	CFHR4	c.331G>A	NM_001201550.2	NP_001188479.1:p.(Glu111Lys)	NC_000001.10:g.196874312G>A	VUS	1 lab	8f60c6c93e
10:78649261 KCNMA1 T>C	10	78649261	78649261	T	C	KCNMA1	c.3409A>G	NM_001161352.1	NP_001154824.1:p.(Ile1137Val)	NC_000010.10:g.78649261T>C	VUS	1 lab	8f631d57a1
2:47703711 MSH2 G>C	2	47703711	47703711	G	C	MSH2	c.2210+1G>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47703711G>C	(Likely) pathogenic	1 lab	8f64cdceca
1:120459239 NOTCH2 G>C	1	120459239	120459239	G	C	NOTCH2	c.6106C>G	NM_024408.3	NP_077719.2:p.(Arg2036Gly)	NC_000001.10:g.120459239G>C	VUS	1 lab	8f6626c425
5:112176192 APC C>T	5	112176192	112176192	C	T	APC	c.4901C>T	NM_000038.6	NP_000029.2:p.(Pro1634Leu)	NC_000005.9:g.112176192C>T	(Likely) benign	1 lab	8f66d04327
16:68835596 CDH1 C>T	16	68835596	68835596	C	T	CDH1	c.187C>T	NM_004360.5	NP_004351.1:p.(Arg63Ter)	NC_000016.9:g.68835596C>T	(Likely) pathogenic	1 lab	8f671710d2
3:37056036 MLH1 GT>G	3	37056036	37056037	GT	G	MLH1	c.790+2del	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37056037del	(Likely) pathogenic	1 lab	8f6746ecda
9:139417470 NOTCH1 C>T	9	139417470	139417470	C	T	NOTCH1	c.574G>A	NM_017617.5	NP_060087.3:p.(Gly192Arg)	NC_000009.11:g.139417470C>T	VUS	1 lab	076cb283fe
20:62103780 KCNQ2 C>A	20	62103780	62103780	C	A	KCNQ2	c.37G>T	NM_172107.4	NP_742105.1:p.(Gly13Cys)	NC_000020.10:g.62103780C>A	(Likely) benign	1 lab	8f6d51da63
2:179470011 TTN T>C	2	179470011	179470011	T	C	TTN	c.53893A>G	NM_001267550.2	NP_001254479.2:p.(Ile17965Val)	NC_000002.11:g.179470011T>C	VUS	1 lab	8f6d57683e
7:151478613 PRKAG2 C>T	7	151478613	151478613	C	T	PRKAG2	c.187-96G>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151478613C>T	(Likely) benign	1 lab	8f70250437
18:47566627 MYO5B C>A	18	47566627	47566627	C	A	MYO5B	c.196G>T	NM_001080467.3	NP_001073936.1:p.(Asp66Tyr)	NC_000018.9:g.47566627C>A	VUS	1 lab	076fc005b5
10:75871826 VCL G>A	10	75871826	75871826	G	A	VCL	c.2905G>A	NM_014000.3	NP_054706.1:p.(Ala969Thr)	NC_000010.10:g.75871826G>A	VUS	1 lab	077127df06
2:48018070 MSH6 G>A	2	48018070	48018070	G	A	MSH6	c.265G>A	NM_000179.2	NP_000170.1:p.(Asp89Asn)	NC_000002.11:g.48018070G>A	(Likely) benign	1 lab	8f71bac049
6:32008924 TNXB G>A	6	32008924	32008924	G	A	TNXB				NC_000006.11:g.32008924G>A	(Likely) benign	1 lab	8f7330a94f
22:19868228 TXNRD2 G>A	22	19868228	19868228	G	A	TXNRD2	c.1099C>T	NM_006440.5	NP_006431.2:p.(Leu367=)	NC_000022.10:g.19868228G>A	(Likely) benign	1 lab	0774c13d8b
18:12329622 AFG3L2 C>T	18	12329622	12329622	C	T	AFG3L2	c.2336G>A	NM_006796.2	NP_006787.2:p.(Trp779Ter)	NC_000018.9:g.12329622C>T	VUS	1 lab	8f77b61e18
X:85134006 CHM G>A	X	85134006	85134006	G	A	CHM	c.1573C>T	NM_000390.3	NP_000381.1:p.(Gln525Ter)	NC_000023.10:g.85134006G>A	(Likely) pathogenic	1 lab	8f782d5895
19:51171477 SHANK1 T>A	19	51171477	51171477	T	A	SHANK1	c.3740A>T	NM_016148.5	NP_057232.2:p.(Gln1247Leu)	NC_000019.9:g.51171477T>A	(Likely) benign	1 lab	0778a29bf1
2:112656315 MERTK G>A	2	112656315	112656315	G	A	MERTK	c.3G>A	NM_006343.2	NP_006334.2:p.(Met1?)	NC_000002.11:g.112656315G>A	(Likely) pathogenic	1 lab	8f78e4b65e
1:26385017 TRIM63 G>A	1	26385017	26385017	G	A	TRIM63	c.695C>T	NM_032588.3	NP_115977.2:p.(Thr232Met)	NC_000001.10:g.26385017G>A	(Likely) benign	1 lab	8f7ec1be49
12:48238740 VDR C>T	12	48238740	48238740	C	T	VDR	c.1073G>A	NM_001017535.1	NP_001017535.1:p.(Arg358His)	NC_000012.11:g.48238740C>T	(Likely) benign	1 lab	0dacc25db7
9:6620209 GLDC G>A	9	6620209	6620209	G	A	GLDC	c.445C>T	NM_000170.2	NP_000161.2:p.(Arg149Trp)	NC_000009.11:g.6620209G>A	VUS	1 lab	8f7f6e66cd
16:30567095 ZNF764 G>A	16	30567095	30567095	G	A	ZNF764	c.647C>T	NM_033410.3	NP_219363.2:p.(Ser216Phe)	NC_000016.9:g.30567095G>A	VUS	1 lab	8f7fc3fa1c
18:44140378 LOXHD1 G>A	18	44140378	44140378	G	A	LOXHD1				NC_000018.9:g.44140378G>A	(Likely) benign	1 lab	8f841e77f8
6:133846394 EYA4 T>G	6	133846394	133846394	T	G	EYA4	c.1839+2T>G	NM_004100.4	NP_004091.3:p.?	NC_000006.11:g.133846394T>G	(Likely) pathogenic	1 lab	8f87429eb9
10:135180430 ECHS1 A>G	10	135180430	135180430	A	G	ECHS1	c.582T>C	NM_004092.3	NP_004083.3:p.(Thr194=)	NC_000010.10:g.135180430A>G	(Likely) benign	1 lab	8f882f87c5
21:46321660 ITGB2 A>C	21	46321660	46321660	A	C	ITGB2	c.500-12T>G	NM_000211.4	NP_000202.3:p.?	NC_000021.8:g.46321660A>C	(Likely) pathogenic	1 lab	8f9058df6f
5:112177022 APC C>T	5	112177022	112177022	C	T	APC	c.5731C>T	NM_000038.5	NP_000029.2:p.(Gln1911Ter)	NC_000005.9:g.112177022C>T	(Likely) pathogenic	1 lab	8f91367791
16:70302259 AARS1 C>T	16	70302259	70302259	C	T	AARS1	c.986G>A	NM_001605.2	NP_001596.2:p.(Arg329His)	NC_000016.9:g.70302259C>T	(Likely) pathogenic	1 lab	8f95297bcf
7:91712989 AKAP9 T>C	7	91712989	91712989	T	C	AKAP9	c.8646+20T>C	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91712989T>C	(Likely) benign	1 lab	8f954b5c01
X:99663590 PCDH19 C>T	X	99663590	99663590	C	T	PCDH19	c.6G>A	NM_001184880.2	NP_001171809.1:p.(Glu2=)	NC_000023.10:g.99663590C>T	(Likely) benign	1 lab	0db0f76f43
2:179429187 TTN G>A	2	179429187	179429187	G	A	TTN	c.81672C>T	NM_001267550.2	NP_001254479.2:p.(Asn27224=)	NC_000002.11:g.179429187G>A	(Likely) benign	1 lab	8f9ad7dfda
1:236850044 ACTN2 A>C	1	236850044	236850044	A	C	ACTN2	c.71A>C	NM_001103.2	NP_001094.1:p.(Glu24Ala)	NC_000001.10:g.236850044A>C	VUS	1 lab	8f9bc66e92
10:88676945 BMPR1A C>T	10	88676945	88676945	C	T	BMPR1A	c.730C>T	NM_004329.2	NP_004320.2:p.(Arg244Ter)	NC_000010.10:g.88676945C>T	(Likely) pathogenic	1 lab	8f9eb5276d
17:40688635 NAGLU AG>A	17	40688635	40688636	AG	A	NAGLU	c.346del	NM_000263.4	NP_000254.2:p.(Ala116ProfsTer6)	NC_000017.10:g.40688636del	(Likely) pathogenic	1 lab	07834888d9
10:104678350 CNNM2 G>A	10	104678350	104678350	G	A	CNNM2				NC_000010.10:g.104678350G>A	(Likely) benign	1 lab	8f9fb5f9ca
2:48049399 FBXO11 A>C	2	48049399	48049399	A	C	FBXO11	c.1660T>G	NM_001190274.1	NP_001177203.1:p.(Phe554Val)	NC_000002.11:g.48049399A>C	VUS	1 lab	8fa0a41f78
2:179588056 TTN T>C	2	179588056	179588056	T	C	TTN	c.21683-5A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179588056T>C	(Likely) benign	1 lab	8fa15ab1b9
3:37090029 MLH1 C>T	3	37090029	37090029	C	T	MLH1	c.1918C>T	NM_000249.3	NP_000240.1:p.(Pro640Ser)	NC_000003.11:g.37090029C>T	(Likely) pathogenic	1 lab	8fa39ca70f
12:110720429 ATP2A2 A>C	12	110720429	110720429	A	C	ATP2A2	c.136+3A>C	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110720429A>C	(Likely) pathogenic	1 lab	8fa6c3c7b2
17:41243935 BRCA1 C>T	17	41243935	41243935	C	T	BRCA1	c.3613G>A	NM_007294.3	NP_009225.1:p.(Gly1205Arg)	NC_000017.10:g.41243935C>T	(Likely) benign	1 lab	8fa85de11c
11:61093129 DDB1 T>C	11	61093129	61093129	T	C	DDB1	c.716A>G	NM_001923.5	NP_001914.3:p.(Tyr239Cys)	NC_000011.9:g.61093129T>C	VUS	1 lab	8fa95d4272
17:33443907 RAD51D AT>A	17	33443907	33443908	AT	A	RAD51D	c.263+1612del	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443908del	VUS	1 lab	8fab20ba17
18:28666624 DSC2 C>A	18	28666624	28666624	C	A	DSC2	c.857G>T	NM_024422.6	NP_077740.1:p.(Gly286Val)	NC_000018.9:g.28666624C>A	(Likely) benign	1 lab	8fafc9cac6
4:120181724 USP53 A>G	4	120181724	120181724	A	G	USP53	c.738A>G	NM_019050.2	NP_061923.2:p.(Thr246=)	NC_000004.11:g.120181724A>G	(Likely) benign	1 lab	8fb0feb3fd
6:152477193 SYNE1 C>T	6	152477193	152477193	C	T	SYNE1	c.23830G>A	NM_182961.4	NP_892006.3:p.(Ala7944Thr)	NC_000006.11:g.152477193C>T	VUS	1 lab	8fb120d892
2:179434685 TTN G>A	2	179434685	179434685	G	A	TTN	c.76174C>T	NM_001267550.2	NP_001254479.2:p.(Pro25392Ser)	NC_000002.11:g.179434685G>A	(Likely) benign	1 lab	8fb135b45c
3:122002839 CASR C>T	3	122002839	122002839	C	T	CASR	c.2038C>T	NM_000388.3	NP_000379.2:p.(Arg680Cys)	NC_000003.11:g.122002839C>T	(Likely) pathogenic	1 lab	8fb2f7eaa9
11:62472993 BSCL2 G>A	11	62472993	62472993	G	A	BSCL2	c.184C>T	NM_001122955.4	NP_001116427.1:p.(Leu62Phe)	NC_000011.9:g.62472993G>A	VUS	1 lab	079009f3ed
7:140501303 BRAF G>T	7	140501303	140501303	G	T	BRAF	c.769C>A	NM_004333.4	NP_004324.2:p.(Gln257Lys)	NC_000007.13:g.140501303G>T	(Likely) pathogenic	1 lab	8fb5af0622
19:16590017 CALR3 C>T	19	16590017	16590017	C	T	CALR3	c.1080G>A	NM_145046.4	NP_659483.2:p.(Glu360=)	NC_000019.9:g.16590017C>T	(Likely) benign	1 lab	8fb64d1887
15:78401613 CIB2 GGGGAGCCGAC>G	15	78401613	78401623	GGGGAGCCGAC	G	CIB2	c.300_309del	NM_006383.3	NP_006374.1:p.(Glu100AspfsTer28)	NC_000015.9:g.78401614_78401623del	(Likely) pathogenic	1 lab	8fbca78b4d
15:48539534 SLC12A1 G>C	15	48539534	48539534	G	C	SLC12A1	c.1561G>C	NM_000338.3	NP_000329.2:p.(Ala521Pro)	NC_000015.9:g.48539534G>C	VUS	1 lab	8fc195f3d8
1:3347535 PRDM16 G>C	1	3347535	3347535	G	C	PRDM16	c.3384G>C	NM_022114.3	NP_071397.3:p.(Glu1128Asp)	NC_000001.10:g.3347535G>C	(Likely) benign	1 lab	8fc400db51
3:45537808 LARS2 C>A	3	45537808	45537808	C	A	LARS2	c.1565C>A	NM_015340.3	NP_056155.1:p.(Thr522Asn)	NC_000003.11:g.45537808C>A	(Likely) pathogenic	1 lab	8fc782ffc2
18:43447707 MISSING G>A	18	43447707	43447707	G	A	MISSING				NC_000018.9:g.43447707G>A	(Likely) pathogenic	1 lab	8fc7e1adaa
2:179391935 TTN T>G	2	179391935	179391935	T	G	TTN	c.107780A>C	NM_001267550.2	NP_001254479.2:p.(Glu35927Ala)	NC_000002.11:g.179391935T>G	VUS	1 lab	8fc9ea56da
17:18065953 MYO15A G>A	17	18065953	18065953	G	A	MYO15A	c.9572G>A	NM_016239.3	NP_057323.3:p.(Arg3191His)	NC_000017.10:g.18065953G>A	(Likely) pathogenic	1 lab	8fcbc0bcb1
2:238296472 COL6A3 G>A	2	238296472	238296472	G	A	COL6A3	c.1065C>T	NM_004369.3	NP_004360.2:p.(Ala355=)	NC_000002.11:g.238296472G>A	(Likely) benign	1 lab	8fd0ea9187
16:67470197 HSD11B2 C>T	16	67470197	67470197	C	T	HSD11B2	c.710C>T	NM_000196.3	NP_000187.3:p.(Ala237Val)	NC_000016.9:g.67470197C>T	(Likely) pathogenic	1 lab	8fd3def1b6
14:23891566 MYH7 G>A	14	23891566	23891566	G	A	MYH7	c.3100-32C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23891566G>A	(Likely) benign	1 lab	8fd54a18f2
12:6134812 VWF C>T	12	6134812	6134812	C	T	VWF	c.3156G>A	NM_000552.3	NP_000543.2:p.(Lys1052=)	NC_000012.11:g.6134812C>T	(Likely) benign	1 lab	8fdae4300f
1:215847956 USH2A C>A	1	215847956	215847956	C	A	USH2A	c.13297G>T	NM_206933.2	NP_996816.2:p.(Val4433Leu)	NC_000001.10:g.215847956C>A	(Likely) benign	1 lab	8fdaf201d9
3:168810804 MECOM G>A	3	168810804	168810804	G	A	MECOM	c.3106C>T	NM_004991.4	NP_004982.2:p.(Arg1036Ter)	NC_000003.11:g.168810804G>A	(Likely) pathogenic	1 lab	8fdcc14c6c
4:2828867 SH3BP2 C>T	4	2828867	2828867	C	T	SH3BP2	c.513-90C>T	NM_001145855.2	NP_001139327.1:p.?	NC_000004.11:g.2828867C>T	(Likely) benign	1 lab	0dbdabea7b
7:100280354 GIGYF1 TCAGA>T	7	100280354	100280360	TCAGA	T	GIGYF1	c.2455_2458del	NM_001375765.1	NP_001362694.1:p.(Ser819ArgfsTer38)	NC_000007.13:g.100280357_100280360del	VUS	1 lab	078623290b
22:38369593 SOX10 G>A	22	38369593	38369593	G	A	SOX10	c.1310C>T	NM_006941.4	NP_008872.1:p.(Thr437Met)	NC_000022.10:g.38369593G>A	VUS	1 lab	8fe1db6b11
9:136523669 DBH C>T	9	136523669	136523669	C	T	DBH	c.*100C>T	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136523669C>T	(Likely) benign	1 lab	8fe318ed84
3:48628014 COL7A1 G>A	3	48628014	48628014	G	A	COL7A1	c.1784C>T	NM_000094.3	NP_000085.1:p.(Pro595Leu)	NC_000003.11:g.48628014G>A	(Likely) benign	1 lab	8fe78751a7
9:35748806 GBA2 G>T	9	35748806	35748806	G	T	GBA2	c.-105C>A	NM_020944.2	NP_065995.1:p.?	NC_000009.11:g.35748806G>T	(Likely) benign	1 lab	8fe9ba84cd
2:166915195 SCN1A A>G	2	166915195	166915195	A	G	SCN1A	c.268T>C	NM_001165963.1	NP_001159435.1:p.(Phe90Leu)	NC_000002.11:g.166915195A>G	(Likely) pathogenic	1 lab	8fea3798df
11:61723345 BEST1 G>A	11	61723345	61723345	G	A	BEST1	c.403G>A	NM_004183.3	NP_004174.1:p.(Gly135Ser)	NC_000011.9:g.61723345G>A	VUS	1 lab	8feaa7e3fe
5:149294545 PDE6A T>C	5	149294545	149294545	T	C	PDE6A	c.959A>G	NM_000440.2	NP_000431.2:p.(Asp320Gly)	NC_000005.9:g.149294545T>C	VUS	1 lab	8fedfcbbe2
19:50909804 POLD1 C>T	19	50909804	50909804	C	T	POLD1	c.1494+30C>T	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50909804C>T	(Likely) benign	1 lab	8ff0cf7f0f
7:94058594 COL1A2 C>T	7	94058594	94058594	C	T	COL1A2	c.3806C>T	NM_000089.3	NP_000080.2:p.(Thr1269Ile)	NC_000007.13:g.94058594C>T	VUS	1 lab	0dc12ff5d6
8:61763144 CHD7 C>T	8	61763144	61763144	C	T	CHD7	c.5497C>T	NM_017780.3	NP_060250.2:p.(Gln1833Ter)	NC_000008.10:g.61763144C>T	(Likely) pathogenic	1 lab	8ff2e36f68
12:57409550 TAC3 A>G	12	57409550	57409550	A	G	TAC3	c.32T>C	NM_013251.3	NP_037383.1:p.(Leu11Pro)	NC_000012.11:g.57409550A>G	(Likely) pathogenic	1 lab	8ff8498269
3:178921333 PIK3CA A>G	3	178921333	178921333	A	G	PIK3CA				NC_000003.11:g.178921333A>G	VUS	1 lab	920cc22120
16:14676033 PARN C>T	16	14676033	14676033	C	T	PARN	c.1192+5G>A	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14676033C>T	(Likely) benign	1 lab	079084ba3b
19:852966 ELANE A>G	19	852966	852966	A	G	ELANE	c.158A>G	NM_001972.4	NP_001963.1:p.(His53Arg)	NC_000019.9:g.852966A>G	(Likely) pathogenic	1 lab	8ffb75fa3d
18:21148904 NPC1 G>A	18	21148904	21148904	G	A	NPC1	c.346C>T	NM_000271.5	NP_000262.2:p.(Arg116Ter)	NC_000018.9:g.21148904G>A	(Likely) pathogenic	1 lab	8ffbd1ed71
17:74472998 RHBDF2 G>A	17	74472998	74472998	G	A	RHBDF2	c.1116C>T	NM_024599.5	NP_078875.4:p.(Gly372=)	NC_000017.10:g.74472998G>A	(Likely) benign	1 lab	8ffbe2906a
11:47372377 MYBPC3 G>C	11	47372377	47372377	G	C	MYBPC3	c.293-211C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47372377G>C	(Likely) benign	1 lab	8ffd2ef884
7:131193780 PODXL C>G	7	131193780	131193780	C	G	PODXL	c.1031G>C	NM_001018111.2	NP_001018121.1:p.(Cys344Ser)	NC_000007.13:g.131193780C>G	VUS	1 lab	8ffec92544
10:126670358 MISSING G>A	10	126670358	126670358	G	A	MISSING				NC_000010.10:g.126670358G>A	(Likely) pathogenic	1 lab	8fff432343
12:80749665 OTOGL C>T	12	80749665	80749665	C	T	OTOGL				NC_000012.11:g.80749665C>T	(Likely) pathogenic	1 lab	900623a0a9
3:38524694 ACVR2B C>T	3	38524694	38524694	C	T	ACVR2B	c.1410C>T	NM_001106.3	NP_001097.2:p.(Ser470=)	NC_000003.11:g.38524694C>T	(Likely) benign	1 lab	900645ce32
17:7577548 TP53 C>T	17	7577548	7577548	C	T	TP53	c.733G>A	NM_000546.5	NP_000537.3:p.(Gly245Ser)	NC_000017.10:g.7577548C>T	(Likely) pathogenic	1 lab	90078e98bc
8:102643944 GRHL2 G>A	8	102643944	102643944	G	A	GRHL2	c.1337G>A	NM_024915.3	NP_079191.2:p.(Cys446Tyr)	NC_000008.10:g.102643944G>A	VUS	1 lab	90080137b6
X:84519389 ZNF711 T>C	X	84519389	84519389	T	C	ZNF711	c.731T>C	NM_021998.4	NP_068838.3:p.(Ile244Thr)	NC_000023.10:g.84519389T>C	(Likely) pathogenic	1 lab	90087e6345
14:64494417 SYNE2 A>G	14	64494417	64494417	A	G	SYNE2	c.6620A>G	NM_182914.2	NP_878918.2:p.(Asn2207Ser)	NC_000014.8:g.64494417A>G	(Likely) benign	1 lab	900b5192e5
11:126137897 SRPRA C>G	11	126137897	126137897	C	G	SRPRA	c.201+1G>C	NM_003139.3	NP_003130.2:p.?	NC_000011.9:g.126137897C>G	VUS	1 lab	90101484e8
10:112404319 RBM20 C>G	10	112404319	112404319	C	G	RBM20	c.107C>G	NM_001134363.2	NP_001127835.2:p.(Ser36Cys)	NC_000010.10:g.112404319C>G	VUS	1 lab	901368bc34
7:2984163 CARD11 C>T	7	2984163	2984163	C	T	CARD11	c.367G>A	NM_032415.5	NP_115791.3:p.(Gly123Ser)	NC_000007.13:g.2984163C>T	(Likely) pathogenic	1 lab	9018c4dd0b
8:61720837 CHD7 TA>T	8	61720837	61720840	TA	T	CHD7	c.2498+9del	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61720840del	(Likely) pathogenic	1 lab	079a5601b7
19:42489090 ATP1A3 C>G	19	42489090	42489090	C	G	ATP1A3	c.973G>C	NM_152296.4	NP_689509.1:p.(Gly325Arg)	NC_000019.9:g.42489090C>G	(Likely) pathogenic	1 lab	901b1e1875
5:112175755 APC ATTAC>A	5	112175755	112175759	ATTAC	A	APC	c.4465_4468del	NM_000038.6	NP_000029.2:p.(Leu1489IlefsTer17)	NC_000005.9:g.112175756_112175759del	(Likely) pathogenic	1 lab	901b4620e1
10:73498287 CDH23 C>A	10	73498287	73498287	C	A	CDH23	c.4242C>A	NM_022124.5	NP_071407.4:p.(Asn1414Lys)	NC_000010.10:g.73498287C>A	VUS	1 lab	901b6ab1b2
12:112926248 PTPN11 G>T	12	112926248	112926248	G	T	PTPN11	c.1381G>T	NM_002834.3	NP_002825.3:p.(Ala461Ser)	NC_000012.11:g.112926248G>T	(Likely) pathogenic	1 lab	901b817dfe
2:167143117 SCN9A G>A	2	167143117	167143117	G	A	SCN9A	c.1331C>T	NM_002977.3	NP_002968.1:p.(Ala444Val)	NC_000002.11:g.167143117G>A	(Likely) benign	1 lab	901c91e6b4
9:75303674 TMC1 T>A	9	75303674	75303674	T	A	TMC1	c.64+2T>A	NM_138691.2	NP_619636.2:p.?	NC_000009.11:g.75303674T>A	(Likely) pathogenic	1 lab	901d67b726
20:52775622 CYP24A1 C>T	20	52775622	52775622	C	T	CYP24A1	c.1031G>A	NM_000782.5	NP_000773.2:p.(Arg344His)	NC_000020.10:g.52775622C>T	(Likely) benign	1 lab	901ee4c12a
4:651290 PDE6B C>CA	4	651290	651291	C	CA	PDE6B	c.1401+7_1401+8insA	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.651290_651291insA	(Likely) benign	1 lab	90201ccfe4
10:92675540 ANKRD1 C>CT	10	92675540	92675541	C	CT	ANKRD1	c.748dup	NM_014391.3	NP_055206.2:p.(Arg250LysfsTer9)	NC_000010.10:g.92675541dup	VUS	1 lab	902742565e
1:196884192 CFHR4 G>C	1	196884192	196884192	G	C	CFHR4	c.1464G>C	NM_001201550.3	NP_001188479.1:p.(Gln488His)	NC_000001.10:g.196884192G>C	VUS	1 lab	9027c22976
1:237802367 RYR2 G>A	1	237802367	237802367	G	A	RYR2	c.6981G>A	NM_001035.2	NP_001026.2:p.(Arg2327=)	NC_000001.10:g.237802367G>A	(Likely) benign	1 lab	9027e4dbf1
3:41266113 CTNNB1 C>A	3	41266113	41266113	C	A	CTNNB1	c.110C>A	NM_001098209.2	NP_001091679.1:p.(Ser37Tyr)	NC_000003.11:g.41266113C>A	(Likely) pathogenic	1 lab	0dd09a7a88
1:26786566 DHDDS G>A	1	26786566	26786566	G	A	DHDDS	c.696G>A	NM_205861.3	NP_995583.1:p.(Trp232Ter)	NC_000001.10:g.26786566G>A	VUS	1 lab	902f9a3c00
5:112163643 APC G>GAT	5	112163643	112163645	G	GAT	APC	c.1567_1568insTA	NM_000038.6	NP_000029.2:p.(Lys523IlefsTer5)	NC_000005.9:g.112163644_112163645insTA	(Likely) pathogenic	1 lab	9032b74956
1:3328787 PRDM16 C>T	1	3328787	3328787	C	T	PRDM16	c.2026C>T	NM_022114.3	NP_071397.3:p.(Pro676Ser)	NC_000001.10:g.3328787C>T	VUS	1 lab	9034c40499
17:42285141 UBTF G>T	17	42285141	42285141	G	T	UBTF	c.1954-3C>A	NM_014233.4	NP_055048.1:p.?	NC_000017.10:g.42285141G>T	(Likely) benign	1 lab	079b9e0a10
12:21958249 ABCC9 G>A	12	21958249	21958249	G	A	ABCC9	c.4513-4C>T	NM_005691.3	NP_005682.2:p.?	NC_000012.11:g.21958249G>A	(Likely) benign	1 lab	903a5b0558
2:179407805 TTN C>T	2	179407805	179407805	C	T	TTN	c.96895G>A	NM_001267550.2	NP_001254479.2:p.(Asp32299Asn)	NC_000002.11:g.179407805C>T	VUS	1 lab	903acf8807
3:30713805 TGFBR2 A>T	3	30713805	30713805	A	T	TGFBR2	c.1205A>T	NM_001024847.2	NP_001020018.1:p.(His402Leu)	NC_000003.11:g.30713805A>T	(Likely) pathogenic	1 lab	903b0436e7
21:35884525 KCNE1 G>A	21	35884525	35884525	G	A	KCNE1	c.-577C>T	NM_000219.5	NP_000210.2:p.?	NC_000021.8:g.35884525G>A	(Likely) benign	1 lab	903ce469b9
20:60640866 MISSING T>C	20	60640866	60640866	T	C	MISSING				NC_000020.10:g.60640866T>C	VUS	1 lab	079e2da100
18:31320371 ASXL3 G>T	18	31320371	31320371	G	T	ASXL3	c.3003G>T	NM_030632.1	NP_085135.1:p.(Gln1001His)	NC_000018.9:g.31320371G>T	VUS	1 lab	90438346e6
13:32910455 BRCA2 C>G	13	32910455	32910455	C	G	BRCA2	c.1963C>G	NM_000059.3	NP_000050.2:p.(Pro655Ala)	NC_000013.10:g.32910455C>G	(Likely) benign	1 lab	907d9d110c
15:68500628 CLN6 GAGGAAGAGGCCGTTGCTGTCC>G	15	68500628	68500659	GAGGAAGAGGCCGTTGCTGTCC	G	CLN6				NC_000015.9:g.68500639_68500659del	VUS	1 lab	90461cb8cb
17:73518361 TSEN54 T>C	17	73518361	73518361	T	C	TSEN54	c.1199T>C	NM_207346.3	NP_997229.2:p.(Leu400Pro)	NC_000017.10:g.73518361T>C	VUS	1 lab	079f249799
X:44935968 KDM6A A>C	X	44935968	44935968	A	C	KDM6A	c.2729A>C	NM_021140.4	NP_066963.2:p.(Asn910Thr)	NC_000023.10:g.44935968A>C	VUS	1 lab	07a223f920
19:52249296 FPR1 C>T	19	52249296	52249296	C	T	FPR1	c.952G>A	NM_002029.3	NP_002020.1:p.(Ala318Thr)	NC_000019.9:g.52249296C>T	(Likely) benign	1 lab	0dd54d8f65
20:62076037 KCNQ2 C>T	20	62076037	62076037	C	T	KCNQ2	c.665G>A	NM_172107.2	NP_742105.1:p.(Gly222Asp)	NC_000020.10:g.62076037C>T	(Likely) pathogenic	1 lab	9050985b97
X:153580281 FLNA C>T	X	153580281	153580281	C	T	FLNA	c.6878G>A	NM_001110556.1	NP_001104026.1:p.(Cys2293Tyr)	NC_000023.10:g.153580281C>T	(Likely) pathogenic	1 lab	90512bb6cc
3:9490107 SETD5 G>T	3	9490107	9490107	G	T	SETD5				NC_000003.11:g.9490107G>T	VUS	1 lab	90565d152c
3:38793972 SCN10A C>T	3	38793972	38793972	C	T	SCN10A	c.1493G>A	NM_006514.3	NP_006505.3:p.(Arg498Gln)	NC_000003.11:g.38793972C>T	(Likely) benign	1 lab	905991f5e1
16:70719694 MTSS2 T>C	16	70719694	70719694	T	C	MTSS2	c.1A>G	NM_138383.3	NP_612392.1:p.(Met1?)	NC_000016.9:g.70719694T>C	VUS	1 lab	905a1e68e3
2:179482049 TTN T>G	2	179482049	179482049	T	G	TTN	c.40056+3A>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179482049T>G	VUS	1 lab	07a3339fe4
17:80583261 WDR45B T>C	17	80583261	80583261	T	C	WDR45B	c.427+4A>G	NM_019613.4	NP_062559.2:p.?	NC_000017.10:g.80583261T>C	VUS	1 lab	905ef1d755
15:48551399 SLC12A1 C>T	15	48551399	48551399	C	T	SLC12A1	c.2045C>T	NM_000338.2	NP_000329.2:p.(Pro682Leu)	NC_000015.9:g.48551399C>T	VUS	1 lab	905ef8c5f7
X:18690187 RS1 A>T	X	18690187	18690187	A	T	RS1	c.2T>A	NM_000330.4	NP_000321.1:p.(Met1?)	NC_000023.10:g.18690187A>T	(Likely) pathogenic	1 lab	9062a0e8f2
X:153170595 AVPR2 C>A	X	153170595	153170595	C	A	AVPR2	c.-5C>A	NM_000054.4	NP_000045.1:p.?	NC_000023.10:g.153170595C>A	(Likely) benign	1 lab	906300d8f1
3:169482724 TERC CCGCCCGCTGAAAGTCAGCGAGAAAAACAGCGCGCGGGGAGCAAAAGCACGGCGCCTA>C	3	169482724	169482786	CCGCCCGCTGAAAGTCAGCGAGAAAAACAGCGCGCGGGGAGCAAAAGCACGGCGCCTA	C	TERC	n.68_124del	NR_001566.1		NC_000003.11:g.169482730_169482786del	(Likely) pathogenic	1 lab	9064d900d3
17:31039074 MYO1D G>A	17	31039074	31039074	G	A	MYO1D	c.2053C>T	NM_015194.2	NP_056009.1:p.(Arg685Ter)	NC_000017.10:g.31039074G>A	VUS	1 lab	9066a12224
19:50364534 PNKP G>A	19	50364534	50364534	G	A	PNKP	c.1537C>T	NM_007254.3	NP_009185.2:p.(Arg513Trp)	NC_000019.9:g.50364534G>A	VUS	1 lab	906841ffab
10:135099134 TUBGCP2 T>C	10	135099134	135099134	T	C	TUBGCP2	c.1807-2A>G	NM_001256617.2	NP_001243546.1:p.?	NC_000010.10:g.135099134T>C	(Likely) pathogenic	1 lab	90685f569a
12:122295335 HPD T>C	12	122295335	122295335	T	C	HPD	c.97A>G	NM_002150.3	NP_002141.2:p.(Thr33Ala)	NC_000012.11:g.122295335T>C	(Likely) benign	1 lab	07a45bf467
7:6027248 PMS2 T>A	7	6027248	6027248	T	A	PMS2	c.1148A>T	NM_000535.7	NP_000526.2:p.(Asn383Ile)	NC_000007.13:g.6027248T>A	VUS	1 lab	906bada205
3:38739787 SCN10A A>T	3	38739787	38739787	A	T	SCN10A	c.4924T>A	NM_006514.4	NP_006505.4:p.(Phe1642Ile)	NC_000003.11:g.38739787A>T	VUS	1 lab	906caaa0ba
2:68622952 MISSING G>C	2	68622952	68622952	G	C	MISSING				NC_000002.11:g.68622952G>C	(Likely) benign	1 lab	906e8990ff
19:54628021 PRPF31 C>T	19	54628021	54628021	C	T	PRPF31	c.841C>T	NM_015629.3	NP_056444.3:p.(Gln281Ter)	NC_000019.9:g.54628021C>T	(Likely) pathogenic	1 lab	90715210db
5:148406621 SH3TC2 G>A	5	148406621	148406621	G	A	SH3TC2				NC_000005.9:g.148406621G>A	(Likely) pathogenic	1 lab	90718628bf
10:88466329 LDB3 C>A	10	88466329	88466329	C	A	LDB3	c.938C>A	NM_007078.2	NP_009009.1:p.(Thr313Asn)	NC_000010.10:g.88466329C>A	(Likely) benign	1 lab	9072bcdc72
2:47641573 MSH2 A>G	2	47641573	47641573	A	G	MSH2	c.942+16A>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47641573A>G	(Likely) benign	1 lab	9073120e6a
21:39795373 ERG G>C	21	39795373	39795373	G	C	ERG	c.368C>G	NM_004449.4	NP_004440.1:p.(Pro123Arg)	NC_000021.8:g.39795373G>C	VUS	1 lab	9076d97aae
19:6713262 C3 G>A	19	6713262	6713262	G	A	C3	c.941C>T	NM_000064.3	NP_000055.2:p.(Pro314Leu)	NC_000019.9:g.6713262G>A	(Likely) benign	1 lab	9078f558e2
18:3742433 DLGAP1 G>A	18	3742433	3742433	G	A	DLGAP1	c.1252C>T	NM_004746.4	NP_004737.2:p.(Arg418Trp)	NC_000018.9:g.3742433G>A	VUS	1 lab	907a311aa6
19:5832589 FUT6 A>C	19	5832589	5832589	A	C	FUT6	c.-11T>G	NM_000150.3	NP_000141.1:p.?	NC_000019.9:g.5832589A>C	(Likely) benign	1 lab	0d9a5eeb49
22:37465114 TMPRSS6 G>A	22	37465114	37465114	G	A	TMPRSS6	c.2139C>T	NM_153609.3	NP_705837.1:p.(Gly713=)	NC_000022.10:g.37465114G>A	(Likely) benign	1 lab	907e08d852
17:10551879 MYH3 G>A	17	10551879	10551879	G	A	MYH3	c.730C>T	NM_002470.3	NP_002461.2:p.(Arg244Cys)	NC_000017.10:g.10551879G>A	VUS	1 lab	907f5add3e
19:50910238 POLD1 A>G	19	50910238	50910238	A	G	POLD1	c.1495-2A>G	NM_001256849.1	NP_001243778.1:p.?	NC_000019.9:g.50910238A>G	VUS	1 lab	07a9121150
11:117253623 CEP164 G>A	11	117253623	117253623	G	A	CEP164	c.1689G>A	NM_014956.4	NP_055771.4:p.(Val563=)	NC_000011.9:g.117253623G>A	VUS	1 lab	90821e1386
19:3121118 GNA11 T>C	19	3121118	3121118	T	C	GNA11	c.1021T>C	NM_002067.4	NP_002058.2:p.(Phe341Leu)	NC_000019.9:g.3121118T>C	(Likely) pathogenic	1 lab	9086ea79e2
22:46931050 CELSR1 A>G	22	46931050	46931050	A	G	CELSR1	c.2018T>C	NM_014246.4	NP_055061.1:p.(Val673Ala)	NC_000022.10:g.46931050A>G	VUS	1 lab	07ac7362c7
19:13335547 CACNA1A TGT>G	19	13335547	13335549	TGT	G	CACNA1A	c.5666_5668delinsC	NM_001127221.1	NP_001120693.1:p.(Asn1889ThrfsTer33)	NC_000019.9:g.13335547_13335549delinsG	(Likely) pathogenic	1 lab	9088d4991e
12:110719595 ATP2A2 A>T	12	110719595	110719595	A	T	ATP2A2	c.1A>T	NM_001681.3	NP_001672.1:p.(Met1?)	NC_000012.11:g.110719595A>T	(Likely) pathogenic	1 lab	908b79df6e
2:166903445 SCN1A T>C	2	166903445	166903445	T	C	SCN1A	c.1212A>G	NM_001202435.3	NP_001189364.1:p.(Val404=)	NC_000002.11:g.166903445T>C	(Likely) benign	1 lab	07b115cce8
2:96956122 SNRNP200 G>C	2	96956122	96956122	G	C	SNRNP200	c.2684C>G	NM_014014.5	NP_054733.2:p.(Ser895Ter)	NC_000002.11:g.96956122G>C	(Likely) pathogenic	1 lab	9093e2112b
16:2161350 PKD1 G>A	16	2161350	2161350	G	A	PKD1	c.3818C>T	NM_001009944.2	NP_001009944.2:p.(Thr1273Ile)	NC_000016.9:g.2161350G>A	VUS	1 lab	9097871a20
14:23884696 MYH7 T>C	14	23884696	23884696	T	C	MYH7	c.5177A>G	NM_000257.4	NP_000248.2:p.(Gln1726Arg)	NC_000014.8:g.23884696T>C	VUS	1 lab	07b35bcc06
11:47354791 MYBPC3 G>A	11	47354791	47354791	G	A	MYBPC3	c.3284C>T	NM_000256.3	NP_000247.2:p.(Thr1095Met)	NC_000011.9:g.47354791G>A	(Likely) benign	1 lab	90a3700b90
11:2189105 TH T>G	11	2189105	2189105	T	G	TH	c.728A>C	NM_199292.2	NP_954986.2:p.(Gln243Pro)	NC_000011.9:g.2189105T>G	(Likely) pathogenic	1 lab	90a54ae96e
18:32409011 DTNA C>T	18	32409011	32409011	C	T	DTNA	c.1094+1371C>T	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32409011C>T	(Likely) benign	1 lab	90a6ef8277
14:58937416 KIAA0586 T>C	14	58937416	58937416	T	C	KIAA0586	c.2687T>C	NM_001244189.1	NP_001231118.1:p.(Leu896Pro)	NC_000014.8:g.58937416T>C	(Likely) benign	1 lab	90a737f132
9:139981627 MAN1B1 A>G	9	139981627	139981627	A	G	MAN1B1	c.176A>G	NM_016219.5	NP_057303.2:p.(Asn59Ser)	NC_000009.11:g.139981627A>G	(Likely) benign	1 lab	07b96a0664
7:151329205 PRKAG2 A>T	7	151329205	151329205	A	T	PRKAG2	c.704T>A	NM_016203.3	NP_057287.2:p.(Leu235Gln)	NC_000007.13:g.151329205A>T	VUS	1 lab	90ab1c252e
2:168104027 XIRP2 G>A	2	168104027	168104027	G	A	XIRP2	c.6125G>A	NM_152381.5	NP_689594.4:p.(Ser2042Asn)	NC_000002.11:g.168104027G>A	(Likely) benign	1 lab	90abe4858d
10:55626397 PCDH15 C>T	10	55626397	55626397	C	T	PCDH15				NC_000010.10:g.55626397C>T	VUS	1 lab	94ce6adc17
16:53639419 RPGRIP1L C>T	16	53639419	53639419	C	T	RPGRIP1L	c.3809G>A	NM_015272.2	NP_056087.2:p.(Arg1270Lys)	NC_000016.9:g.53639419C>T	VUS	1 lab	90c64f4699
9:140128361 SLC34A3 AGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAG>A	9	140128361	140128513	AGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGTGAGGCCCGGCCCACCCCAAGCCCCCTACACCCCCCACACTCCCCCTCACCGGCCCCTACATGGAGAG	A	SLC34A3	c.925+20_926-48del	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140128413_140128513del	(Likely) pathogenic	1 lab	0dd66d1d4a
15:93557815 CHD2 C>T	15	93557815	93557815	C	T	CHD2	c.4693-111C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93557815C>T	(Likely) benign	1 lab	0dd707ac50
9:140605431 EHMT1 A>AC	9	140605431	140605432	A	AC	EHMT1	c.34_35insC	NM_024757.4	NP_079033.4:p.(Arg12ThrfsTer25)	NC_000009.11:g.140605431_140605432insC	(Likely) pathogenic	1 lab	90b476c08c
X:107868988 COL4A5 G>C	X	107868988	107868988	G	C	COL4A5	c.3070G>C	NM_033380.2	NP_203699.1:p.(Gly1024Arg)	NC_000023.10:g.107868988G>C	(Likely) pathogenic	1 lab	90b4e2fbf0
X:44936001 KDM6A C>T	X	44936001	44936001	C	T	KDM6A	c.2918C>T	NM_001291415.2	NP_001278344.1:p.(Pro973Leu)	NC_000023.10:g.44936001C>T	VUS	1 lab	90b5007b52
11:76867914 MYO7A G>A	11	76867914	76867914	G	A	MYO7A	c.599G>A	NM_000260.4	NP_000251.3:p.(Gly200Glu)	NC_000011.9:g.76867914G>A	VUS	1 lab	90d5697172
19:49699760 TRPM4 CT>GG	19	49699760	49699761	CT	GG	TRPM4	c.2274_2275delinsGG	NM_017636.3	NP_060106.2:p.(Cys758_Cys759delinsTrpGly)	NC_000019.9:g.49699760_49699761delinsGG	(Likely) benign	1 lab	90b6771b44
11:118039419 SCN2B C>T	11	118039419	118039419	C	T	SCN2B	c.118G>A	NM_004588.5	NP_004579.1:p.(Val40Ile)	NC_000011.9:g.118039419C>T	(Likely) benign	1 lab	90b81d0960
1:216138719 USH2A G>T	1	216138719	216138719	G	T	USH2A	c.7060C>A	NM_206933.2	NP_996816.2:p.(Arg2354Ser)	NC_000001.10:g.216138719G>T	VUS	1 lab	90baef587e
12:52941699 KRT71 G>A	12	52941699	52941699	G	A	KRT71	c.1046C>T	NM_033448.3	NP_258259.1:p.(Ser349Leu)	NC_000012.11:g.52941699G>A	(Likely) benign	1 lab	07bc2ca34e
17:41251646 BRCA1 T>A	17	41251646	41251646	T	A	BRCA1	c.547+146A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251646T>A	(Likely) benign	1 lab	0dde7947d1
11:61722643 BEST1 A>C	11	61722643	61722643	A	C	BEST1	c.217A>C	NM_004183.4	NP_004174.1:p.(Ile73Leu)	NC_000011.9:g.61722643A>C	VUS	1 lab	90c32cda41
17:59876648 BRIP1 G>T	17	59876648	59876648	G	T	BRIP1	c.1153C>A	NM_032043.3	NP_114432.2:p.(Leu385Met)	NC_000017.10:g.59876648G>T	VUS	1 lab	90c364e3e8
1:24192112 FUCA1 A>T	1	24192112	24192112	A	T	FUCA1				NC_000001.10:g.24192112A>T	(Likely) pathogenic	1 lab	90c386fbec
11:95825374 MAML2 TTGCTGC>T	11	95825374	95825415	TTGCTGC	T	MAML2	c.1815_1820del	NM_032427.4	NP_115803.1:p.(Gln620_Gln621del)	NC_000011.9:g.95825410_95825415del	(Likely) benign	1 lab	07bdd4c37a
16:23641394 PALB2 G>C	16	23641394	23641394	G	C	PALB2	c.2081C>G	NM_024675.3	NP_078951.2:p.(Thr694Arg)	NC_000016.9:g.23641394G>C	(Likely) benign	1 lab	90c9dd3d0d
3:32188128 GPD1L G>A	3	32188128	32188128	G	A	GPD1L	c.520G>A	NM_015141.4	NP_055956.1:p.(Glu174Lys)	NC_000003.11:g.32188128G>A	(Likely) benign	1 lab	90ca8a2ddd
1:169528384 F5 G>A	1	169528384	169528384	G	A	F5	c.730+7C>T	NM_000130.4	NP_000121.2:p.?	NC_000001.10:g.169528384G>A	(Likely) benign	1 lab	90cb80f1d5
16:57993847 CNGB1 G>A	16	57993847	57993847	G	A	CNGB1	c.706C>T	NM_001297.4	NP_001288.3:p.(Gln236Ter)	NC_000016.9:g.57993847G>A	(Likely) pathogenic	1 lab	90cf14e02c
12:80750288 OTOGL C>T	12	80750288	80750288	C	T	OTOGL	c.5872C>T	NM_173591.3	NP_775862.3:p.(Gln1958Ter)	NC_000012.11:g.80750288C>T	(Likely) pathogenic	1 lab	90cf4b9c2a
7:150647240 KCNH2 GC>G	7	150647240	150647246	GC	G	KCNH2	c.2398+15del	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150647246del	(Likely) benign	1 lab	90d028547c
22:37471290 TMPRSS6 G>A	22	37471290	37471290	G	A	TMPRSS6	c.1254C>T	NM_153609.3	NP_705837.1:p.(Tyr418=)	NC_000022.10:g.37471290G>A	(Likely) benign	1 lab	90d67a1d4a
1:156108466 LMNA T>G	1	156108466	156108466	T	G	LMNA	c.1886T>G	NM_170707.3	NP_733821.1:p.(Val629Gly)	NC_000001.10:g.156108466T>G	(Likely) benign	1 lab	90d7898ca3
20:57429310 GNAS C>A	20	57429310	57429310	C	A	GNAS	c.803C>A	NM_001309883.1	NP_001296812.1:p.(Ser268Ter)	NC_000020.10:g.57429310C>A	VUS	1 lab	90d899b2bd
4:126372364 FAT4 C>T	4	126372364	126372364	C	T	FAT4				NC_000004.11:g.126372364C>T	VUS	1 lab	965bad0c17
7:31876821 PDE1C C>A	7	31876821	31876821	C	A	PDE1C	c.1356G>T	NM_001191058.4	NP_001177987.2:p.(Met452Ile)	NC_000007.13:g.31876821C>A	VUS	1 lab	90d983b7c4
5:112174758 APC AAGAG>A	5	112174758	112174765	AAGAG	A	APC	c.3471_3474del	NM_000038.6	NP_000029.2:p.(Glu1157AspfsTer7)	NC_000005.9:g.112174762_112174765del	(Likely) pathogenic	1 lab	90db8ce2ab
2:46583278 EPAS1 C>A	2	46583278	46583278	C	A	EPAS1	c.218-12C>A	NM_001430.5	NP_001421.2:p.?	NC_000002.11:g.46583278C>A	(Likely) benign	1 lab	90df75e6f7
2:208988900 CRYGD T>C	2	208988900	208988900	T	C	CRYGD	c.188A>G	NM_006891.3	NP_008822.2:p.(Tyr63Cys)	NC_000002.11:g.208988900T>C	(Likely) benign	1 lab	90e0548340
6:129786360 LAMA2 C>T	6	129786360	129786360	C	T	LAMA2	c.7226C>T	NM_000426.4	NP_000417.3:p.(Ala2409Val)	NC_000006.11:g.129786360C>T	VUS	1 lab	07be02d436
2:189923601 COL5A2 C>T	2	189923601	189923601	C	T	COL5A2	c.2104G>A	NM_000393.3	NP_000384.2:p.(Gly702Arg)	NC_000002.11:g.189923601C>T	VUS	1 lab	90e5c7d42f
15:60803443 RORA C>T	15	60803443	60803443	C	T	RORA	c.901G>A	NM_134260.2	NP_599022.1:p.(Val301Met)	NC_000015.9:g.60803443C>T	VUS	1 lab	90e5e9d06b
15:43893673 STRC C>T	15	43893673	43893673	C	T	STRC	c.4622G>A	NM_153700.2	NP_714544.1:p.(Arg1541Gln)	NC_000015.9:g.43893673C>T	VUS	1 lab	90ea7f3d82
X:38178198 RPGR T>C	X	38178198	38178198	T	C	RPGR	c.353A>G	NM_001034853.1	NP_001030025.1:p.(Gln118Arg)	NC_000023.10:g.38178198T>C	(Likely) pathogenic	1 lab	90f19a0223
3:100961582 IMPG2 T>C	3	100961582	100961582	T	C	IMPG2	c.2972A>G	NM_016247.3	NP_057331.2:p.(Tyr991Cys)	NC_000003.11:g.100961582T>C	VUS	1 lab	913221e801
1:76215192 ACADM A>G	1	76215192	76215192	A	G	ACADM	c.896A>G	NM_001286043.1	NP_001272972.1:p.(Asp299Gly)	NC_000001.10:g.76215192A>G	(Likely) pathogenic	1 lab	90f21c2ea5
X:10535512 MISSING C>T	X	10535512	10535512	C	T	MISSING				NC_000023.10:g.10535512C>T	(Likely) benign	1 lab	b6eee28ea2
12:51072605 DIP2B T>C	12	51072605	51072605	T	C	DIP2B	c.1060T>C	NM_173602.3	NP_775873.2:p.(Ser354Pro)	NC_000012.11:g.51072605T>C	(Likely) benign	1 lab	07c391a204
10:112581619 RBM20 C>T	10	112581619	112581619	C	T	RBM20	c.3242C>T	NM_001134363.3	NP_001127835.2:p.(Pro1081Leu)	NC_000010.10:g.112581619C>T	VUS	1 lab	90f4ada499
18:28671113 DSC2 C>T	18	28671113	28671113	C	T	DSC2	c.355-3G>A	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28671113C>T	(Likely) benign	1 lab	90f8f3715b
3:43122966 POMGNT2 G>A	3	43122966	43122966	G	A	POMGNT2				NC_000003.11:g.43122966G>A	(Likely) benign	1 lab	90fc43a28e
4:170315496 NEK1 C>T	4	170315496	170315496	C	T	NEK1	c.*165G>A	NM_001199397.1	NP_001186326.1:p.?	NC_000004.11:g.170315496C>T	(Likely) benign	1 lab	90fcaaab2c
22:29089974 CHEK2 G>C	22	29089974	29089974	G	C	CHEK2	c.1461+46C>G	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29089974G>C	(Likely) benign	1 lab	90fd30a858
14:23852539 MYH6 G>A	14	23852539	23852539	G	A	MYH6	c.5566-10C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852539G>A	(Likely) benign	1 lab	90fff3b181
18:60052090 TNFRSF11A C>CGCG	18	60052090	60052101	C	CGCG	TNFRSF11A	c.1683_1685dup	NM_003839.4	NP_003830.1:p.(Ala563dup)	NC_000018.9:g.60052099_60052101dup	VUS	1 lab	07c68852cc
18:31325764 ASXL3 AAG>A	18	31325764	31325766	AAG	A	ASXL3	c.5953_5954del	NM_030632.1	NP_085135.1:p.(Arg1985ValfsTer15)	NC_000018.9:g.31325765_31325766del	(Likely) pathogenic	1 lab	9106258417
5:176719057 NSD1 T>C	5	176719057	176719057	T	C	NSD1				NC_000005.9:g.176719057T>C	(Likely) pathogenic	1 lab	910757e3f3
9:131370141 SPTAN1 C>T	9	131370141	131370141	C	T	SPTAN1	c.4157C>T	NM_001130438.3	NP_001123910.1:p.(Thr1386Ile)	NC_000009.11:g.131370141C>T	VUS	1 lab	910cded393
1:152277055 FLG C>G	1	152277055	152277055	C	G	FLG	c.10307G>C	NM_002016.1	NP_002007.1:p.(Gly3436Ala)	NC_000001.10:g.152277055C>G	(Likely) benign	1 lab	910d445f07
17:59938882 BRIP1 C>G	17	59938882	59938882	C	G	BRIP1	c.19G>C	NM_032043.3	NP_114432.2:p.(Glu7Gln)	NC_000017.10:g.59938882C>G	(Likely) benign	1 lab	910ee8cfb9
11:101981755 YAP1 G>T	11	101981755	101981755	G	T	YAP1	c.176G>T	NM_001130145.3	NP_001123617.1:p.(Gly59Val)	NC_000011.9:g.101981755G>T	VUS	1 lab	91131ffee2
2:230675713 TRIP12 G>A	2	230675713	230675713	G	A	TRIP12	c.2104C>T	NM_001348328.1	NP_001335257.1:p.(Gln702Ter)	NC_000002.11:g.230675713G>A	(Likely) pathogenic	1 lab	9113c448d7
2:179417694 TTN C>T	2	179417694	179417694	C	T	TTN	c.89933G>A	NM_001267550.2	NP_001254479.2:p.(Arg29978Lys)	NC_000002.11:g.179417694C>T	(Likely) benign	1 lab	91201cc2d0
5:112175775 APC GT>G	5	112175775	112175776	GT	G	APC	c.4485del	NM_000038.6	NP_000029.2:p.(Ser1495ArgfsTer12)	NC_000005.9:g.112175776del	(Likely) pathogenic	1 lab	9121c1b240
1:241676957 FH CTGG>C	1	241676957	241676961	CTGG	C	FH	c.321_323del	NM_000143.4	NP_000134.2:p.(Asn107_Gln108delinsLys)	NC_000001.10:g.241676959_241676961del	VUS	1 lab	912924b55e
3:186303170 DNAJB11 G>C	3	186303170	186303170	G	C	DNAJB11	c.1050G>C	NM_016306.6	NP_057390.1:p.(Lys350Asn)	NC_000003.11:g.186303170G>C	VUS	1 lab	9129aecad5
5:147474044 SPINK5 TG>T	5	147474044	147474045	TG	T	SPINK5	c.794+1del	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147474045del	(Likely) pathogenic	1 lab	912ef3a09a
2:189857623 COL3A1 G>T	2	189857623	189857623	G	T	COL3A1	c.1007G>T	NM_000090.3	NP_000081.1:p.(Gly336Val)	NC_000002.11:g.189857623G>T	(Likely) pathogenic	1 lab	912f4947ac
22:36745003 MYH9 G>C	22	36745003	36745003	G	C	MYH9	c.279C>G	NM_002473.4	NP_002464.1:p.(Asn93Lys)	NC_000022.10:g.36745003G>C	(Likely) pathogenic	1 lab	912fc87017
11:76858936 MYO7A C>A	11	76858936	76858936	C	A	MYO7A	c.225C>A	NM_000260.3	NP_000251.3:p.(Asp75Glu)	NC_000011.9:g.76858936C>A	VUS	1 lab	9131af4e92
1:154680480 KCNN3 G>T	1	154680480	154680480	G	T	KCNN3	c.2168C>A	NM_002249.6	NP_002240.3:p.(Thr723Asn)	NC_000001.10:g.154680480G>T	VUS	1 lab	07cf3bc16f
1:152284896 FLG A>G	1	152284896	152284896	A	G	FLG	c.2466T>C	NM_002016.2	NP_002007.1:p.(His822=)	NC_000001.10:g.152284896A>G	(Likely) benign	1 lab	9136cfe369
17:76482056 DNAH17 C>T	17	76482056	76482056	C	T	DNAH17	c.7261G>A	NM_173628.4	NP_775899.3:p.(Asp2421Asn)	NC_000017.10:g.76482056C>T	VUS	1 lab	07d258a46e
5:92920778 NR2F1 G>C	5	92920778	92920778	G	C	NR2F1	c.49G>C	NM_005654.5	NP_005645.1:p.(Gly17Arg)	NC_000005.9:g.92920778G>C	VUS	1 lab	9140ec7669
16:2817311 SRRM2 C>T	16	2817311	2817311	C	T	SRRM2	c.6782C>T	NM_016333.4	NP_057417.3:p.(Thr2261Met)	NC_000016.9:g.2817311C>T	VUS	1 lab	07dc7a6913
14:68257352 ZFYVE26 T>A	14	68257352	68257352	T	A	ZFYVE26	c.2692A>T	NM_015346.3	NP_056161.2:p.(Thr898Ser)	NC_000014.8:g.68257352T>A	(Likely) benign	1 lab	91472fd487
X:53267441 IQSEC2 G>A	X	53267441	53267441	G	A	IQSEC2	c.3163C>T	NM_001111125.2	NP_001104595.1:p.(Arg1055Ter)	NC_000023.10:g.53267441G>A	(Likely) pathogenic	1 lab	914772ae94
1:204135345 REN G>A	1	204135345	204135345	G	A	REN	c.77C>T	NM_000537.3	NP_000528.1:p.(Thr26Ile)	NC_000001.10:g.204135345G>A	(Likely) pathogenic	1 lab	9149a0c985
19:13246115 NACC1 G>A	19	13246115	13246115	G	A	NACC1	c.94G>A	NM_052876.4	NP_443108.1:p.(Val32Met)	NC_000019.9:g.13246115G>A	VUS	1 lab	914b2ed178
14:23893253 MYH7 C>T	14	23893253	23893253	C	T	MYH7	c.2785G>A	NM_000257.4	NP_000248.2:p.(Glu929Lys)	NC_000014.8:g.23893253C>T	(Likely) pathogenic	1 lab	07dd152c2b
2:216236916 FN1 C>T	2	216236916	216236916	C	T	FN1	c.6430G>A	NM_212482.1	NP_997647.1:p.(Glu2144Lys)	NC_000002.11:g.216236916C>T	VUS	1 lab	915608078c
17:63533680 AXIN2 C>T	17	63533680	63533680	C	T	AXIN2	c.1474G>A	NM_004655.3	NP_004646.3:p.(Ala492Thr)	NC_000017.10:g.63533680C>T	VUS	1 lab	0ddeab3ce5
2:227872256 COL4A4 C>T	2	227872256	227872256	C	T	COL4A4	c.4858G>A	NM_000092.4	NP_000083.3:p.(Gly1620Ser)	NC_000002.11:g.227872256C>T	(Likely) pathogenic	1 lab	0ddebe3ded
2:215812297 ABCA12 G>A	2	215812297	215812297	G	A	ABCA12	c.7105-17C>T	NM_173076.2	NP_775099.2:p.?	NC_000002.11:g.215812297G>A	(Likely) benign	1 lab	9158325b77
2:74120181 ACTG2 A>G	2	74120181	74120181	A	G	ACTG2	c.-37+3A>G	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74120181A>G	(Likely) benign	1 lab	915838839a
3:47456079 SCAP T>G	3	47456079	47456079	T	G	SCAP	c.3370A>C	NM_012235.2	NP_036367.2:p.(Thr1124Pro)	NC_000003.11:g.47456079T>G	VUS	1 lab	915a28a1b8
3:170724955 SLC2A2 C>T	3	170724955	170724955	C	T	SLC2A2	c.594G>A	NM_000340.1	NP_000331.1:p.(Thr198=)	NC_000003.11:g.170724955C>T	(Likely) benign	1 lab	915a42e691
11:118360569 KMT2A C>A	11	118360569	118360569	C	A	KMT2A	c.4542C>A	NM_001197104.2	NP_001184033.1:p.(Tyr1514Ter)	NC_000011.9:g.118360569C>A	(Likely) pathogenic	1 lab	915a9ae9e8
19:49674900 TRPM4 G>A	19	49674900	49674900	G	A	TRPM4	c.924G>A	NM_017636.3	NP_060106.2:p.(Ala308=)	NC_000019.9:g.49674900G>A	(Likely) benign	1 lab	915c56dd35
19:5222730 PTPRS C>CG	19	5222730	5222737	C	CG	PTPRS	c.3072dup	NM_002850.3	NP_002841.3:p.(Val1025ArgfsTer34)	NC_000019.9:g.5222737dup	VUS	1 lab	915f87399a
15:72109904 NR2E3 T>G	15	72109904	72109904	T	G	NR2E3	c.1112T>G	NM_014249.2	NP_055064.1:p.(Leu371Trp)	NC_000015.9:g.72109904T>G	(Likely) pathogenic	1 lab	916014bbb4
6:32008490 TNXB C>A	6	32008490	32008490	C	A	TNXB				NC_000006.11:g.32008490C>A	(Likely) pathogenic	1 lab	91651ef97a
3:48610357 COL7A1 C>T	3	48610357	48610357	C	T	COL7A1	c.6769G>A	NM_000094.3	NP_000085.1:p.(Gly2257Arg)	NC_000003.11:g.48610357C>T	(Likely) pathogenic	1 lab	91655c1c6a
12:49435488 KMT2D G>A	12	49435488	49435488	G	A	KMT2D	c.6184C>T	NM_003482.3	NP_003473.3:p.(Gln2062Ter)	NC_000012.11:g.49435488G>A	(Likely) pathogenic	1 lab	91658e0e2e
8:61655634 CHD7 C>T	8	61655634	61655634	C	T	CHD7	c.1643C>T	NM_017780.3	NP_060250.2:p.(Pro548Leu)	NC_000008.10:g.61655634C>T	VUS	1 lab	9167c6c5c9
5:74712810 COL4A3BP C>T	5	74712810	74712810	C	T	COL4A3BP				NC_000005.9:g.74712810C>T	(Likely) pathogenic	1 lab	916859d6c8
7:6018255 PMS2 ATTCT>A	7	6018255	6018263	ATTCT	A	PMS2	c.2243_2246del	NM_000535.6	NP_000526.2:p.(Lys748MetfsTer19)	NC_000007.13:g.6018260_6018263del	(Likely) pathogenic	1 lab	916871ec3e
9:126135627 CRB2 G>C	9	126135627	126135627	G	C	CRB2	c.2817G>C	NM_173689.7	NP_775960.4:p.(Leu939=)	NC_000009.11:g.126135627G>C	(Likely) benign	1 lab	0de00df0e5
13:32911900 BRCA2 A>G	13	32911900	32911900	A	G	BRCA2	c.3408A>G	NM_000059.3	NP_000050.2:p.(Ile1136Met)	NC_000013.10:g.32911900A>G	(Likely) benign	1 lab	916bb4c929
21:43808522 TMPRSS3 C>T	21	43808522	43808522	C	T	TMPRSS3	c.436G>A	NM_024022.2	NP_076927.1:p.(Gly146Ser)	NC_000021.8:g.43808522C>T	VUS	1 lab	916e937d4a
11:88911406 TYR C>CA	11	88911406	88911407	C	CA	TYR	c.286dup	NM_000372.4	NP_000363.1:p.(Met96AsnfsTer73)	NC_000011.9:g.88911407dup	(Likely) pathogenic	1 lab	91709dfc75
11:108202599 ATM C>T	11	108202599	108202599	C	T	ATM	c.7630-7C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108202599C>T	(Likely) benign	1 lab	9170c0d5e8
14:61115850 SIX1 C>G	14	61115850	61115850	C	G	SIX1	c.58G>C	NM_005982.3	NP_005973.1:p.(Val20Leu)	NC_000014.8:g.61115850C>G	(Likely) benign	1 lab	917137dfa2
11:101375057 TRPC6 G>A	11	101375057	101375057	G	A	TRPC6	c.643C>T	NM_004621.5	NP_004612.2:p.(Arg215Trp)	NC_000011.9:g.101375057G>A	(Likely) pathogenic	1 lab	9172336e27
17:41247809 BRCA1 G>C	17	41247809	41247809	G	C	BRCA1	c.670+54C>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41247809G>C	(Likely) benign	1 lab	0de1344fe7
1:214209100 PROX1 G>T	1	214209100	214209100	G	T	PROX1	c.2137G>T	NM_001270616.2	NP_001257545.1:p.(Val713Phe)	NC_000001.10:g.214209100G>T	VUS	1 lab	07de08d341
18:48604711 SMAD4 G>A	18	48604711	48604711	G	A	SMAD4	c.1533G>A	NM_005359.6	NP_005350.1:p.(Pro511=)	NC_000018.9:g.48604711G>A	(Likely) benign	1 lab	9172d1ffa4
17:60044001 MED13 TA>T	17	60044001	60044003	TA	T	MED13	c.4202del	NM_005121.3	NP_005112.2:p.(Leu1401Ter)	NC_000017.10:g.60044003del	(Likely) pathogenic	1 lab	917f69198c
10:76732366 KAT6B C>T	10	76732366	76732366	C	T	KAT6B	c.1030C>T	NM_012330.3	NP_036462.2:p.(Arg344Ter)	NC_000010.10:g.76732366C>T	(Likely) pathogenic	1 lab	9180c3d3bb
17:4906063 KIF1C C>T	17	4906063	4906063	C	T	KIF1C	c.646C>T	NM_006612.5	NP_006603.2:p.(Arg216Cys)	NC_000017.10:g.4906063C>T	VUS	1 lab	9182bb57d5
2:238259816 COL6A3 C>T	2	238259816	238259816	C	T	COL6A3	c.6773G>A	NM_004369.3	NP_004360.2:p.(Gly2258Asp)	NC_000002.11:g.238259816C>T	VUS	1 lab	91843a7d05
1:247588080 NLRP3 C>G	1	247588080	247588080	C	G	NLRP3	c.1329C>G	NM_001243133.2	NP_001230062.1:p.(Phe443Leu)	NC_000001.10:g.247588080C>G	(Likely) pathogenic	1 lab	0de194dd82
22:33253292 TIMP3 C>T	22	33253292	33253292	C	T	TIMP3	c.261C>T	NM_000362.5	NP_000353.1:p.(Ser87=)	NC_000022.10:g.33253292C>T	(Likely) benign	1 lab	9191cc2921
17:36099457 HNF1B A>T	17	36099457	36099457	A	T	HNF1B	c.518T>A	NM_000458.4	NP_000449.1:p.(Val173Asp)	NC_000017.10:g.36099457A>T	VUS	1 lab	919568d468
7:107303880 SLC26A4 G>C	7	107303880	107303880	G	C	SLC26A4	c.304G>C	NM_000441.1	NP_000432.1:p.(Gly102Arg)	NC_000007.13:g.107303880G>C	(Likely) pathogenic	1 lab	91999d3652
2:166859122 SCN1A C>A	2	166859122	166859122	C	A	SCN1A	c.4144G>T	NM_001165963.1	NP_001159435.1:p.(Gly1382Cys)	NC_000002.11:g.166859122C>A	(Likely) pathogenic	1 lab	919a24eacb
3:38752386 SCN10A T>G	3	38752386	38752386	T	G	SCN10A	c.4092A>C	NM_006514.3	NP_006505.3:p.(Ala1364=)	NC_000003.11:g.38752386T>G	(Likely) benign	1 lab	919bdbb36d
X:107840592 COL4A5 C>T	X	107840592	107840592	C	T	COL4A5	c.1588-15C>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107840592C>T	(Likely) benign	1 lab	919ef2c0da
22:42605694 TCF20 T>C	22	42605694	42605694	T	C	TCF20	c.5618A>G	NM_005650.4	NP_005641.1:p.(Tyr1873Cys)	NC_000022.10:g.42605694T>C	VUS	1 lab	07e46b5f2b
9:2717901 KCNV2 C>A	9	2717901	2717901	C	A	KCNV2	c.162C>A	NM_133497.3	NP_598004.1:p.(Tyr54Ter)	NC_000009.11:g.2717901C>A	(Likely) pathogenic	1 lab	91a1c5ec16
7:27224592 HOXA11 G>A	7	27224592	27224592	G	A	HOXA11	c.172C>T	NM_005523.6	NP_005514.1:p.(Arg58Cys)	NC_000007.13:g.27224592G>A	VUS	1 lab	91a33b2401
2:179496983 TTN G>A	2	179496983	179496983	G	A	TTN				NC_000002.11:g.179496983G>A	(Likely) benign	1 lab	91a351a25b
X:153184283 ARHGAP4 C>T	X	153184283	153184283	C	T	ARHGAP4	c.1152+3G>A	NM_001164741.2	NP_001158213.1:p.?	NC_000023.10:g.153184283C>T	(Likely) benign	1 lab	07e5956d59
18:29098345 DSG2 C>T	18	29098345	29098345	C	T	DSG2	c.81+108C>T	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29098345C>T	(Likely) benign	1 lab	91ad059b83
12:80771733 OTOGL C>T	12	80771733	80771733	C	T	OTOGL				NC_000012.11:g.80771733C>T	VUS	1 lab	91b4ab33c7
2:170356104 BBS5 G>A	2	170356104	170356104	G	A	BBS5				NC_000002.11:g.170356104G>A	(Likely) pathogenic	1 lab	91b4b75a35
5:68830667 OCLN G>A	5	68830667	68830667	G	A	OCLN				NC_000005.9:g.68830667G>A	(Likely) pathogenic	1 lab	91b532271c
19:38985135 RYR1 C>T	19	38985135	38985135	C	T	RYR1	c.6418C>T	NM_000540.3	NP_000531.2:p.(Arg2140Trp)	NC_000019.9:g.38985135C>T	VUS	1 lab	91b5a403ca
14:21820878 SUPT16H C>T	14	21820878	21820878	C	T	SUPT16H	c.3098G>A	NM_007192.4	NP_009123.1:p.(Arg1033His)	NC_000014.8:g.21820878C>T	(Likely) benign	1 lab	07e6abf517
1:228494242 OBSCN C>A	1	228494242	228494242	C	A	OBSCN	c.14700C>A	NM_001271223.2	NP_001258152.2:p.(Thr4900=)	NC_000001.10:g.228494242C>A	(Likely) benign	1 lab	91bc500aa4
5:149242764 PDE6A C>T	5	149242764	149242764	C	T	PDE6A	c.2424G>A	NM_000440.2	NP_000431.2:p.(Glu808=)	NC_000005.9:g.149242764C>T	(Likely) benign	1 lab	91bd64c67b
10:103292106 BTRC C>T	10	103292106	103292106	C	T	BTRC	c.895C>T	NM_033637.3	NP_378663.1:p.(Arg299Ter)	NC_000010.10:g.103292106C>T	VUS	1 lab	91c14a389c
3:147113780 ZIC4 T>C	3	147113780	147113780	T	C	ZIC4	c.697A>G	NM_001168378.1	NP_001161850.1:p.(Lys233Glu)	NC_000003.11:g.147113780T>C	VUS	1 lab	91c1831d3f
22:38379367 SOX10 C>T	22	38379367	38379367	C	T	SOX10	c.425G>A	NM_006941.3	NP_008872.1:p.(Trp142Ter)	NC_000022.10:g.38379367C>T	(Likely) pathogenic	1 lab	91c2d73e5c
8:72234050 EYA1 G>A	8	72234050	72234050	G	A	EYA1	c.337C>T	NM_000503.5	NP_000494.2:p.(Gln113Ter)	NC_000008.10:g.72234050G>A	(Likely) pathogenic	1 lab	91c3b9feee
6:33388110 SYNGAP1 T>C	6	33388110	33388110	T	C	SYNGAP1	c.67+2T>C	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33388110T>C	(Likely) pathogenic	1 lab	91c466cc94
11:2797320 KCNQ1 A>G	11	2797320	2797320	A	G	KCNQ1	c.1685+36A>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2797320A>G	(Likely) benign	1 lab	91c4899b3d
1:68896964 RPE65 C>A	1	68896964	68896964	C	A	RPE65	c.1338+1G>T	NM_000329.2	NP_000320.1:p.?	NC_000001.10:g.68896964C>A	(Likely) pathogenic	1 lab	91c50cbb8a
2:233387246 PRSS56 G>T	2	233387246	233387246	G	T	PRSS56	c.468G>T	NM_001195129.2	NP_001182058.1:p.(Trp156Cys)	NC_000002.11:g.233387246G>T	VUS	1 lab	91d0a51abc
5:112155026 APC C>T	5	112155026	112155026	C	T	APC	c.1297C>T	NM_000038.6	NP_000029.2:p.(Gln433Ter)	NC_000005.9:g.112155026C>T	(Likely) pathogenic	1 lab	91d15e6d08
2:223066912 PAX3 A>G	2	223066912	223066912	A	G	PAX3				NC_000002.11:g.223066912A>G	(Likely) benign	1 lab	91d347e49a
11:66472585 SPTBN2 C>T	11	66472585	66472585	C	T	SPTBN2	c.2162G>A	NM_006946.2	NP_008877.1:p.(Arg721His)	NC_000011.9:g.66472585C>T	VUS	1 lab	91d3bddf8c
1:228433161 OBSCN C>T	1	228433161	228433161	C	T	OBSCN	c.3805C>T	NM_001271223.2	NP_001258152.2:p.(Gln1269Ter)	NC_000001.10:g.228433161C>T	(Likely) benign	1 lab	91d7e3abf3
7:26246057 CBX3 G>A	7	26246057	26246057	G	A	CBX3	c.94G>A	NM_016587.4	NP_057671.2:p.(Val32Met)	NC_000007.13:g.26246057G>A	VUS	1 lab	91db0f809d
3:128781048 GP9 G>A	3	128781048	128781048	G	A	GP9	c.466G>A	NM_000174.4	NP_000165.1:p.(Ala156Thr)	NC_000003.11:g.128781048G>A	(Likely) benign	1 lab	0debf33a74
1:112531507 KCND3 C>A	1	112531507	112531507	C	A	KCND3	c.-210G>T	NM_004980.4	NP_004971.2:p.?	NC_000001.10:g.112531507C>A	(Likely) benign	1 lab	91ded4419c
18:44065044 LOXHD1 G>A	18	44065044	44065044	G	A	LOXHD1	c.5934C>T	NM_144612.6	NP_653213.6:p.(Gly1978=)	NC_000018.9:g.44065044G>A	(Likely) pathogenic	1 lab	91df6d78af
14:95595808 DICER1 C>G	14	95595808	95595808	C	G	DICER1	c.734+1G>C	NM_177438.2	NP_803187.1:p.?	NC_000014.8:g.95595808C>G	(Likely) pathogenic	1 lab	91e5e1cc0e
4:16010732 PROM1 C>T	4	16010732	16010732	C	T	PROM1	c.1142-1G>A	NM_006017.2	NP_006008.1:p.?	NC_000004.11:g.16010732C>T	(Likely) pathogenic	1 lab	91e657d522
18:55362681 ATP8B1 C>T	18	55362681	55362681	C	T	ATP8B1				NC_000018.9:g.55362681C>T	(Likely) pathogenic	1 lab	91e98dc255
5:58481084 PDE4D A>G	5	58481084	58481084	A	G	PDE4D				NC_000005.9:g.58481084A>G	(Likely) pathogenic	1 lab	91e9bf803d
10:73326699 CDH23 T>C	10	73326699	73326699	T	C	CDH23	c.624+6T>C	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73326699T>C	VUS	1 lab	91ead6d30f
16:16251583 ABCC6 T>G	16	16251583	16251583	T	G	ABCC6	c.3819A>C	NM_001171.6	NP_001162.5:p.(Arg1273Ser)	NC_000016.9:g.16251583T>G	VUS	1 lab	91ec484605
16:23641779 PALB2 G>A	16	23641779	23641779	G	A	PALB2	c.1696C>T	NM_024675.3	NP_078951.2:p.(Arg566Cys)	NC_000016.9:g.23641779G>A	(Likely) benign	1 lab	91ed8da98d
2:39294813 SOS1 T>A	2	39294813	39294813	T	A	SOS1	c.169A>T	NM_005633.3	NP_005624.2:p.(Asn57Tyr)	NC_000002.11:g.39294813T>A	VUS	1 lab	91f0d30855
2:110886762 NPHP1 C>A	2	110886762	110886762	C	A	NPHP1	c.1884+1G>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110886762C>A	(Likely) pathogenic	1 lab	0deefc9268
3:14183410 TMEM43 T>C	3	14183410	14183410	T	C	TMEM43	c.*115T>C	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14183410T>C	(Likely) benign	1 lab	91f584d8b6
2:48010577 MSH6 G>T	2	48010577	48010577	G	T	MSH6	c.205G>T	NM_000179.3	NP_000170.1:p.(Ala69Ser)	NC_000002.11:g.48010577G>T	(Likely) benign	1 lab	91f74e988d
X:53263448 IQSEC2 TG>T	X	53263448	53263455	TG	T	IQSEC2	c.4419del	NM_001111125.3	NP_001104595.1:p.(Ser1474ValfsTer21)	NC_000023.10:g.53263455del	(Likely) pathogenic	1 lab	91f86076b5
17:41245076 BRCA1 A>T	17	41245076	41245076	A	T	BRCA1	c.2472T>A	NM_007294.3	NP_009225.1:p.(Asn824Lys)	NC_000017.10:g.41245076A>T	(Likely) benign	1 lab	91f9849fc4
22:21344792 LZTR1 C>T	22	21344792	21344792	C	T	LZTR1	c.769C>T	NM_006767.3	NP_006758.2:p.(Gln257Ter)	NC_000022.10:g.21344792C>T	VUS	1 lab	91f9bc4482
2:149221358 MBD5 T>C	2	149221358	149221358	T	C	MBD5	c.267T>C	NM_018328.4	NP_060798.2:p.(Asp89=)	NC_000002.11:g.149221358T>C	(Likely) benign	1 lab	0def249c1c
16:88792054 PIEZO1 A>G	16	88792054	88792054	A	G	PIEZO1	c.4007T>C	NM_001142864.4	NP_001136336.2:p.(Ile1336Thr)	NC_000016.9:g.88792054A>G	VUS	1 lab	07f255c578
22:37491998 TMPRSS6 G>A	22	37491998	37491998	G	A	TMPRSS6	c.564C>T	NM_153609.3	NP_705837.1:p.(Ala188=)	NC_000022.10:g.37491998G>A	(Likely) benign	1 lab	920230d39c
17:76497299 DNAH17 G>A	17	76497299	76497299	G	A	DNAH17	c.5450C>T	NM_173628.4	NP_775899.3:p.(Thr1817Met)	NC_000017.10:g.76497299G>A	VUS	1 lab	920566eb7c
3:71037188 FOXP1 T>G	3	71037188	71037188	T	G	FOXP1				NC_000003.11:g.71037188T>G	(Likely) pathogenic	1 lab	920842338a
15:49103174 CEP152 T>A	15	49103174	49103174	T	A	CEP152	c.-24A>T	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49103174T>A	(Likely) benign	1 lab	920848bbec
13:32912007 BRCA2 C>G	13	32912007	32912007	C	G	BRCA2	c.3515C>G	NM_000059.3	NP_000050.2:p.(Ser1172Trp)	NC_000013.10:g.32912007C>G	VUS	1 lab	92094ff749
18:45395697 SMAD2 A>G	18	45395697	45395697	A	G	SMAD2	c.437T>C	NM_001003652.3	NP_001003652.1:p.(Ile146Thr)	NC_000018.9:g.45395697A>G	VUS	1 lab	923f7e2563
1:235634233 B3GALNT2 GTGGAGGT>G	1	235634233	235634240	GTGGAGGT	G	B3GALNT2	c.686_692del	NM_152490.5	NP_689703.1:p.(Asp229AlafsTer11)	NC_000001.10:g.235634234_235634240del	(Likely) pathogenic	1 lab	07f2f6a6d8
6:132195394 ENPP1 T>C	6	132195394	132195394	T	C	ENPP1	c.1566-14T>C	NM_006208.2	NP_006199.2:p.?	NC_000006.11:g.132195394T>C	(Likely) benign	1 lab	920a23b836
20:32031176 SNTA1 T>G	20	32031176	32031176	T	G	SNTA1	c.251A>C	NM_003098.2	NP_003089.1:p.(Gln84Pro)	NC_000020.10:g.32031176T>G	VUS	1 lab	920f1dfb93
2:26699159 OTOF C>T	2	26699159	26699159	C	T	OTOF	c.2703G>A	NM_194248.2	NP_919224.1:p.(Ser901=)	NC_000002.11:g.26699159C>T	(Likely) benign	1 lab	92120248f4
2:167318913 SCN7A C>T	2	167318913	167318913	C	T	SCN7A	c.1069G>A	NM_002976.3	NP_002967.2:p.(Val357Ile)	NC_000002.11:g.167318913C>T	(Likely) benign	1 lab	9215a16a39
4:47942792 CNGA1 G>A	4	47942792	47942792	G	A	CNGA1	c.652C>T	NM_000087.4	NP_000078.2:p.(Arg218Ter)	NC_000004.11:g.47942792G>A	(Likely) pathogenic	1 lab	9218632a6f
12:70723260 CNOT2 G>A	12	70723260	70723260	G	A	CNOT2	c.296G>A	NM_001199303.2	NP_001186232.1:p.(Ser99Asn)	NC_000012.11:g.70723260G>A	(Likely) benign	1 lab	07f742db1b
4:16025003 PROM1 G>A	4	16025003	16025003	G	A	PROM1				NC_000004.11:g.16025003G>A	(Likely) pathogenic	1 lab	921aaf4ba7
7:107315495 SLC26A4 C>G	7	107315495	107315495	C	G	SLC26A4	c.706C>G	NM_000441.1	NP_000432.1:p.(Leu236Val)	NC_000007.13:g.107315495C>G	(Likely) pathogenic	1 lab	921bcd1906
12:70004470 LRRC10 G>A	12	70004470	70004470	G	A	LRRC10	c.149C>T	NM_201550.3	NP_963844.2:p.(Ser50Phe)	NC_000012.11:g.70004470G>A	(Likely) benign	1 lab	922074884b
2:179400035 TTN A>G	2	179400035	179400035	A	G	TTN	c.101307T>C	NM_001267550.2	NP_001254479.2:p.(Gly33769=)	NC_000002.11:g.179400035A>G	(Likely) benign	1 lab	9220cb5b20
12:48379351 COL2A1 C>A	12	48379351	48379351	C	A	COL2A1	c.1700G>T	NM_001844.5	NP_001835.3:p.(Gly567Val)	NC_000012.11:g.48379351C>A	(Likely) pathogenic	1 lab	922113e28b
16:89341328 ANKRD11 C>G	16	89341328	89341328	C	G	ANKRD11	c.7607G>C	NM_001256182.1	NP_001243111.1:p.(Arg2536Pro)	NC_000016.9:g.89341328C>G	(Likely) pathogenic	1 lab	922209cdd9
18:56936729 RAX C>T	18	56936729	56936729	C	T	RAX				NC_000018.9:g.56936729C>T	(Likely) pathogenic	1 lab	9222f5a8be
18:21118573 NPC1 CCT>C	18	21118573	21118575	CCT	C	NPC1	c.2972_2973del	NM_000271.5	NP_000262.2:p.(Gln991ArgfsTer15)	NC_000018.9:g.21118574_21118575del	(Likely) pathogenic	1 lab	07f7be2eb5
2:165997188 SCN3A C>T	2	165997188	165997188	C	T	SCN3A	c.1992G>A	NM_006922.4	NP_008853.3:p.(Thr664=)	NC_000002.11:g.165997188C>T	(Likely) benign	1 lab	9225fe3cc8
15:38631960 SPRED1 G>A	15	38631960	38631960	G	A	SPRED1	c.446G>A	NM_152594.2	NP_689807.1:p.(Ser149Asn)	NC_000015.9:g.38631960G>A	(Likely) benign	1 lab	9226fd196a
10:73558941 CDH23 C>A	10	73558941	73558941	C	A	CDH23	c.7128C>A	NM_022124.5	NP_071407.4:p.(Asp2376Glu)	NC_000010.10:g.73558941C>A	VUS	1 lab	922a7370f6
17:54671610 NOG TC>T	17	54671610	54671611	TC	T	NOG	c.27del	NM_005450.6	NP_005441.1:p.(Thr10ProfsTer52)	NC_000017.10:g.54671611del	(Likely) pathogenic	1 lab	922b072fbd
7:91715549 AKAP9 A>G	7	91715549	91715549	A	G	AKAP9	c.9032A>G	NM_005751.4	NP_005742.4:p.(Asp3011Gly)	NC_000007.13:g.91715549A>G	(Likely) benign	1 lab	922bfef886
9:2060867 SMARCA2 C>T	9	2060867	2060867	C	T	SMARCA2	c.1573C>T	NM_001289396.1	NP_001276325.1:p.(Arg525Cys)	NC_000009.11:g.2060867C>T	(Likely) pathogenic	1 lab	923086bf5d
12:2788679 CACNA1C A>G	12	2788679	2788679	A	G	CACNA1C	c.5161A>G	NM_000719.6	NP_000710.5:p.(Thr1721Ala)	NC_000012.11:g.2788679A>G	(Likely) benign	1 lab	9231a6597a
4:140306135 NAA15 A>C	4	140306135	140306135	A	C	NAA15	c.2302+3A>C	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140306135A>C	(Likely) pathogenic	1 lab	923882e0d7
18:29118750 DSG2 T>G	18	29118750	29118750	T	G	DSG2	c.1688T>G	NM_001943.4	NP_001934.2:p.(Leu563Arg)	NC_000018.9:g.29118750T>G	(Likely) benign	1 lab	9238896fa6
2:167060878 SCN9A G>T	2	167060878	167060878	G	T	SCN9A	c.4495C>A	NM_001365536.1	NP_001352465.1:p.(Arg1499=)	NC_000002.11:g.167060878G>T	(Likely) benign	1 lab	92392bd2de
2:71762411 DYSF G>A	2	71762411	71762411	G	A	DYSF	c.1367G>A	NM_003494.4	NP_003485.1:p.(Cys456Tyr)	NC_000002.11:g.71762411G>A	VUS	1 lab	923991e342
13:32912439 BRCA2 A>G	13	32912439	32912439	A	G	BRCA2	c.3947A>G	NM_000059.3	NP_000050.2:p.(Asn1316Ser)	NC_000013.10:g.32912439A>G	(Likely) benign	1 lab	9239a51675
2:121742141 GLI2 C>T	2	121742141	121742141	C	T	GLI2	c.1727C>T	NM_001374353.1	NP_001361282.1:p.(Ala576Val)	NC_000002.11:g.121742141C>T	(Likely) pathogenic	1 lab	923cd26504
6:32007359 CYP21A2 C>T	6	32007359	32007359	C	T	CYP21A2	c.586C>T	NM_000500.7	NP_000491.4:p.(Gln196Ter)	NC_000006.11:g.32007359C>T	(Likely) pathogenic	1 lab	923d7da1d2
12:32977105 PKP2 A>G	12	32977105	32977105	A	G	PKP2	c.1689-9T>C	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32977105A>G	(Likely) benign	1 lab	0df066937a
7:91631121 AKAP9 A>G	7	91631121	91631121	A	G	AKAP9	c.1890A>G	NM_005751.4	NP_005742.4:p.(Leu630=)	NC_000007.13:g.91631121A>G	(Likely) benign	1 lab	9243c007ff
22:29885968 NEFH A>G	22	29885968	29885968	A	G	NEFH	c.2339A>G	NM_021076.3	NP_066554.2:p.(Lys780Arg)	NC_000022.10:g.29885968A>G	VUS	1 lab	9243fc776a
7:82584143 PCLO T>C	7	82584143	82584143	T	C	PCLO	c.6126A>G	NM_033026.5	NP_149015.2:p.(Ile2042Met)	NC_000007.13:g.82584143T>C	VUS	1 lab	9244e49b31
9:14307093 NFIB T>C	9	14307093	14307093	T	C	NFIB	c.457A>G	NM_001190737.1	NP_001177666.1:p.(Lys153Glu)	NC_000009.11:g.14307093T>C	VUS	1 lab	924ae757ed
10:76602616 KAT6B A>G	10	76602616	76602616	A	G	KAT6B	c.1A>G	NM_012330.3	NP_036462.2:p.(Met1?)	NC_000010.10:g.76602616A>G	(Likely) pathogenic	1 lab	924b7c1346
12:81013267 MISSING A>C	12	81013267	81013267	A	C	MISSING				NC_000012.11:g.81013267A>C	VUS	1 lab	a19b6d8a36
12:110222183 TRPV4 G>A	12	110222183	110222183	G	A	TRPV4	c.2396C>T	NM_021625.4	NP_067638.3:p.(Pro799Leu)	NC_000012.11:g.110222183G>A	(Likely) pathogenic	1 lab	924d549476
7:4830330 AP5Z1 G>A	7	4830330	4830330	G	A	AP5Z1	c.1965G>A	NM_014855.2	NP_055670.1:p.(Ser655=)	NC_000007.13:g.4830330G>A	(Likely) benign	1 lab	924df08a5c
4:73957934 ANKRD17 A>G	4	73957934	73957934	A	G	ANKRD17	c.5072T>C	NM_001286771.3	NP_001273700.1:p.(Ile1691Thr)	NC_000004.11:g.73957934A>G	VUS	1 lab	0803888541
4:1955073 NSD2 T>A	4	1955073	1955073	T	A	NSD2	c.2160T>A	NM_133330.2	NP_579877.1:p.(Cys720Ter)	NC_000004.11:g.1955073T>A	VUS	1 lab	9251b8ea22
X:119565291 LAMP2 TGTC>T	X	119565291	119565297	TGTC	T	LAMP2	c.1117_1119del	NM_002294.2	NP_002285.1:p.(Asp373del)	NC_000023.10:g.119565295_119565297del	(Likely) benign	1 lab	925267362a
2:47672756 MSH2 A>T	2	47672756	47672756	A	T	MSH2	c.1346A>T	NM_000251.3	NP_000242.1:p.(Lys449Met)	NC_000002.11:g.47672756A>T	VUS	1 lab	9252e82a64
7:128477345 FLNC G>A	7	128477345	128477345	G	A	FLNC	c.699+34G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128477345G>A	(Likely) benign	1 lab	92585c89de
2:228148482 COL4A3 G>T	2	228148482	228148482	G	T	COL4A3	c.2657-1G>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228148482G>T	(Likely) pathogenic	1 lab	925cde11e4
12:48367264 COL2A1 C>A	12	48367264	48367264	C	A	COL2A1	c.4390G>T	NM_001844.5	NP_001835.3:p.(Asp1464Tyr)	NC_000012.11:g.48367264C>A	VUS	1 lab	925d79c0f6
1:12067167 MFN2 C>T	1	12067167	12067167	C	T	MFN2	c.1930C>T	NM_014874.4	NP_055689.1:p.(Leu644Phe)	NC_000001.10:g.12067167C>T	VUS	1 lab	9262ec6477
8:28574379 EXTL3 C>T	8	28574379	28574379	C	T	EXTL3	c.803C>T	NM_001440.4	NP_001431.1:p.(Thr268Met)	NC_000008.10:g.28574379C>T	VUS	1 lab	0807c1fd34
12:8987260 A2ML1 C>A	12	8987260	8987260	C	A	A2ML1	c.465C>A	NM_144670.5	NP_653271.2:p.(Tyr155Ter)	NC_000012.11:g.8987260C>A	(Likely) benign	1 lab	926ba8f21a
19:4054240 ZBTB7A C>T	19	4054240	4054240	C	T	ZBTB7A	c.991G>A	NM_015898.4	NP_056982.1:p.(Gly331Arg)	NC_000019.9:g.4054240C>T	VUS	1 lab	0808120a16
16:15869952 MYH11 G>T	16	15869952	15869952	G	T	MYH11	c.893C>A	NM_001040114.1	NP_001035203.1:p.(Ala298Asp)	NC_000016.9:g.15869952G>T	VUS	1 lab	926c31133b
12:48374732 COL2A1 CCA>C	12	48374732	48374734	CCA	C	COL2A1	c.2481_2482del	NM_001844.5	NP_001835.3:p.(Gly828AlafsTer14)	NC_000012.11:g.48374733_48374734del	(Likely) pathogenic	1 lab	926d7791d4
3:37042545 MLH1 G>T	3	37042545	37042545	G	T	MLH1	c.306+1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37042545G>T	(Likely) pathogenic	1 lab	9270fb5f56
2:179393789 TTN G>A	2	179393789	179393789	G	A	TTN	c.106689C>T	NM_001267550.2	NP_001254479.2:p.(Leu35563=)	NC_000002.11:g.179393789G>A	(Likely) benign	1 lab	9274a79aee
X:8556006 ANOS1 C>G	X	8556006	8556006	C	G	ANOS1	c.555G>C	NM_000216.3	NP_000207.2:p.(Lys185Asn)	NC_000023.10:g.8556006C>G	VUS	1 lab	927507b1d2
2:162275565 TBR1 A>T	2	162275565	162275565	A	T	TBR1				NC_000002.11:g.162275565A>T	(Likely) pathogenic	1 lab	98fcae4c92
1:201332475 TNNT2 C>T	1	201332475	201332475	C	T	TNNT2	c.519G>A	NM_001001430.2	NP_001001430.1:p.(Arg173=)	NC_000001.10:g.201332475C>T	(Likely) benign	1 lab	9276f185b2
1:215759981 KCTD3 G>A	1	215759981	215759981	G	A	KCTD3	c.770G>A	NM_016121.5	NP_057205.2:p.(Ser257Asn)	NC_000001.10:g.215759981G>A	(Likely) benign	1 lab	080815977b
9:35658003 RMRP T>C	9	35658003	35658003	T	C	RMRP	n.14A>G	NR_003051.4		NC_000009.11:g.35658003T>C	(Likely) pathogenic	1 lab	a561f8cd3c
11:102991434 DYNC2H1 C>T	11	102991434	102991434	C	T	DYNC2H1	c.1151C>T	NM_001080463.2	NP_001073932.1:p.(Ala384Val)	NC_000011.9:g.102991434C>T	(Likely) pathogenic	1 lab	927b9f8403
16:56901021 SLC12A3 C>T	16	56901021	56901021	C	T	SLC12A3	c.322C>T	NM_000339.3	NP_000330.3:p.(Arg108Trp)	NC_000016.9:g.56901021C>T	VUS	1 lab	927e94fa72
7:91631820 AKAP9 G>A	7	91631820	91631820	G	A	AKAP9	c.2589G>A	NM_005751.4	NP_005742.4:p.(Glu863=)	NC_000007.13:g.91631820G>A	(Likely) benign	1 lab	92800f924c
14:95570249 DICER1 CA>C	14	95570249	95570250	CA	C	DICER1				NC_000014.8:g.95570250del	(Likely) pathogenic	1 lab	a2b9967020
4:39501722 UGDH CA>C	4	39501722	39501740	CA	C	UGDH	c.*40del	NM_003359.4	NP_003350.1:p.?	NC_000004.11:g.39501740del	(Likely) benign	1 lab	0df9c6b9ed
2:179914667 CCDC141 AT>A	2	179914667	179914668	AT	A	CCDC141	c.1del	NM_173648.4	NP_775919.3:p.(Met1?)	NC_000002.11:g.179914668del	VUS	1 lab	9281117d4f
1:41285585 KCNQ4 G>A	1	41285585	41285585	G	A	KCNQ4	c.873G>A	NM_004700.3	NP_004691.2:p.(Pro291=)	NC_000001.10:g.41285585G>A	(Likely) benign	1 lab	928796b678
3:58062938 FLNB T>A	3	58062938	58062938	T	A	FLNB	c.458T>A	NM_001457.3	NP_001448.2:p.(Ile153Asn)	NC_000003.11:g.58062938T>A	(Likely) pathogenic	1 lab	92886f534c
18:48586145 SMAD4 A>G	18	48586145	48586145	A	G	SMAD4	c.905-91A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48586145A>G	(Likely) benign	1 lab	9289e3ac58
22:21348474 LZTR1 G>A	22	21348474	21348474	G	A	LZTR1	c.1531G>A	NM_006767.3	NP_006758.2:p.(Val511Met)	NC_000022.10:g.21348474G>A	VUS	1 lab	928cff1eef
16:68772395 CDH1 G>A	16	68772395	68772395	G	A	CDH1	c.163+81G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68772395G>A	(Likely) benign	1 lab	928f7a1375
20:30414596 MYLK2 A>G	20	30414596	30414596	A	G	MYLK2	c.1083-4A>G	NM_033118.3	NP_149109.1:p.?	NC_000020.10:g.30414596A>G	(Likely) benign	1 lab	0dfa765ee1
6:64431228 EYS C>T	6	64431228	64431228	C	T	EYS	c.8699G>A	NM_001142800.1	NP_001136272.1:p.(Arg2900Lys)	NC_000006.11:g.64431228C>T	VUS	1 lab	929054b2f1
16:2164518 PKD1 GGC>G	16	2164518	2164521	GGC	G	PKD1	c.2504_2505del	NM_001009944.3	NP_001009944.3:p.(Arg835ProfsTer36)	NC_000016.9:g.2164520_2164521del	(Likely) pathogenic	1 lab	9292e16e0b
15:48726896 FBN1 A>G	15	48726896	48726896	A	G	FBN1	c.6511T>C	NM_000138.5	NP_000129.3:p.(Ser2171Pro)	NC_000015.9:g.48726896A>G	VUS	1 lab	9295b38e71
6:161162406 PLG T>C	6	161162406	161162406	T	C	PLG	c.2082T>C	NM_000301.5	NP_000292.1:p.(Ala694=)	NC_000006.11:g.161162406T>C	(Likely) benign	1 lab	9296c7a854
1:173879905 SERPINC1 G>A	1	173879905	173879905	G	A	SERPINC1	c.749C>T	NM_000488.4	NP_000479.1:p.(Thr250Ile)	NC_000001.10:g.173879905G>A	(Likely) pathogenic	1 lab	929781990c
19:50909396 POLD1 C>T	19	50909396	50909396	C	T	POLD1	c.1243-43C>T	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50909396C>T	(Likely) benign	1 lab	92991dfa1e
17:41244396 BRCA1 GT>G	17	41244396	41244397	GT	G	BRCA1	c.3151del	NM_007294.4	NP_009225.1:p.(Thr1051LeufsTer11)	NC_000017.10:g.41244397del	(Likely) pathogenic	1 lab	929d692222
X:100662756 GLA G>A	X	100662756	100662756	G	A	GLA	c.136C>T	NM_000169.2	NP_000160.1:p.(His46Tyr)	NC_000023.10:g.100662756G>A	(Likely) pathogenic	1 lab	92a22a8bc0
8:55539690 RP1 T>C	8	55539690	55539690	T	C	RP1	c.3248T>C	NM_006269.2	NP_006260.1:p.(Leu1083Ser)	NC_000008.10:g.55539690T>C	VUS	1 lab	92a35ecdf0
22:29083914 CHEK2 G>A	22	29083914	29083914	G	A	CHEK2	c.1603C>T	NM_007194.3	NP_009125.1:p.(Arg535Cys)	NC_000022.10:g.29083914G>A	(Likely) benign	1 lab	92a618e6e3
4:77676340 SHROOM3 C>T	4	77676340	77676340	C	T	SHROOM3	c.4704C>T	NM_020859.3	NP_065910.3:p.(Arg1568=)	NC_000004.11:g.77676340C>T	(Likely) benign	1 lab	92a6f94bd1
3:71021823 FOXP1 G>A	3	71021823	71021823	G	A	FOXP1	c.1535C>T	NM_032682.5	NP_116071.2:p.(Ala512Val)	NC_000003.11:g.71021823G>A	VUS	1 lab	92a7e4c956
22:30051628 NF2 AT>A	22	30051628	30051630	AT	A	NF2	c.564del	NM_000268.3	NP_000259.1:p.(Thr189LeufsTer20)	NC_000022.10:g.30051630del	(Likely) pathogenic	1 lab	92a8c22570
5:112173578 APC G>T	5	112173578	112173578	G	T	APC	c.2287G>T	NM_000038.6	NP_000029.2:p.(Glu763Ter)	NC_000005.9:g.112173578G>T	(Likely) pathogenic	1 lab	92aa1b52fa
15:51291429 AP4E1 C>G	15	51291429	51291429	C	G	AP4E1	c.3065C>G	NM_007347.4	NP_031373.2:p.(Ser1022Cys)	NC_000015.9:g.51291429C>G	VUS	1 lab	92ab7f310b
12:98927307 TMPO T>C	12	98927307	98927307	T	C	TMPO	c.1272T>C	NM_003276.2	NP_003267.1:p.(Ser424=)	NC_000012.11:g.98927307T>C	(Likely) benign	1 lab	92acf73b6b
11:68201226 LRP5 G>A	11	68201226	68201226	G	A	LRP5	c.3920G>A	NM_002335.4	NP_002326.2:p.(Arg1307Gln)	NC_000011.9:g.68201226G>A	VUS	1 lab	080b0f1fee
X:22237190 PHEX C>T	X	22237190	22237190	C	T	PHEX	c.1738C>T	NM_000444.4	NP_000435.3:p.(His580Tyr)	NC_000023.10:g.22237190C>T	VUS	1 lab	92aee2ec87
2:73717103 ALMS1 G>C	2	73717103	73717103	G	C	ALMS1	c.8020G>C	NM_015120.4	NP_055935.4:p.(Asp2674His)	NC_000002.11:g.73717103G>C	(Likely) benign	1 lab	92aef3a8bd
11:76883893 MYO7A G>A	11	76883893	76883893	G	A	MYO7A	c.1897G>A	NM_000260.3	NP_000251.3:p.(Val633Met)	NC_000011.9:g.76883893G>A	VUS	1 lab	92af467df4
2:179417683 TTN C>G	2	179417683	179417683	C	G	TTN	c.63124G>C	NM_133432.3	NP_597676.3:p.(Val21042Leu)	NC_000002.11:g.179417683C>G	VUS	1 lab	0dfce4f529
8:61769091 CHD7 C>T	8	61769091	61769091	C	T	CHD7	c.7252C>T	NM_017780.3	NP_060250.2:p.(Arg2418Ter)	NC_000008.10:g.61769091C>T	(Likely) pathogenic	1 lab	92b0fa57df
19:59063133 CHMP2A TGAGGG>T	19	59063133	59063142	TGAGGG	T	CHMP2A	c.547_551del	NM_014453.3	NP_055268.1:p.(Pro183AsnfsTer6)	NC_000019.9:g.59063138_59063142del	VUS	1 lab	92b129ff12
5:176720892 NSD1 T>TGTGAGATGTGCCC	5	176720892	176720905	T	TGTGAGATGTGCCC	NSD1	c.6524_6536dup	NM_022455.4	NP_071900.2:p.(Ser2180Ter)	NC_000005.9:g.176720893_176720905dup	(Likely) pathogenic	1 lab	92b26e1eaa
19:13246137 MISSING A>G	19	13246137	13246137	A	G	MISSING				NC_000019.9:g.13246137A>G	VUS	1 lab	92b6570ef1
X:585084 SHOX G>C	X	585084	585084	G	C	SHOX	c.-686G>C	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585084G>C	(Likely) benign	1 lab	92b80ea09d
8:144899817 PUF60 A>AGGCCT	8	144899817	144899822	A	AGGCCT	PUF60	c.948_952dup	NM_078480.3	NP_510965.1:p.(Leu318GlnfsTer43)	NC_000008.10:g.144899818_144899822dup	(Likely) pathogenic	1 lab	92b98c9420
18:52928697 TCF4 C>T	18	52928697	52928697	C	T	TCF4	c.990G>A	NM_001083962.1	NP_001077431.1:p.(Ser330=)	NC_000018.9:g.52928697C>T	(Likely) pathogenic	1 lab	92b9b312db
11:119142579 CBL C>T	11	119142579	119142579	C	T	CBL	c.578C>T	NM_005188.3	NP_005179.2:p.(Ala193Val)	NC_000011.9:g.119142579C>T	VUS	1 lab	92bb28a3f4
X:73963608 NEXMIF C>A	X	73963608	73963608	C	A	NEXMIF	c.784G>T	NM_001008537.2	NP_001008537.1:p.(Glu262Ter)	NC_000023.10:g.73963608C>A	(Likely) pathogenic	1 lab	92bfa75db3
2:241702638 KIF1A G>A	2	241702638	241702638	G	A	KIF1A	c.1894C>T	NM_001244008.1	NP_001230937.1:p.(Gln632Ter)	NC_000002.11:g.241702638G>A	VUS	1 lab	92bfcb5fc0
11:121028666 TECTA C>T	11	121028666	121028666	C	T	TECTA	c.4422C>T	NM_005422.2	NP_005413.2:p.(Asn1474=)	NC_000011.9:g.121028666C>T	(Likely) benign	1 lab	92c1789f78
2:179449149 TTN T>C	2	179449149	179449149	T	C	TTN	c.65129A>G	NM_001267550.2	NP_001254479.2:p.(Asn21710Ser)	NC_000002.11:g.179449149T>C	VUS	1 lab	92c63b951c
5:89987077 ADGRV1 C>CT	5	89987077	89987083	C	CT	ADGRV1	c.6951+225dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89987083dup	(Likely) benign	1 lab	0dfd536860
2:167298015 SCN7A C>T	2	167298015	167298015	C	T	SCN7A	c.2048G>A	NM_002976.3	NP_002967.2:p.(Arg683Gln)	NC_000002.11:g.167298015C>T	(Likely) benign	1 lab	92c8d3dcc8
9:136324137 ADAMTS13 G>A	9	136324137	136324137	G	A	ADAMTS13	c.4119G>A	NM_139025.5	NP_620594.1:p.(Gly1373=)	NC_000009.11:g.136324137G>A	VUS	1 lab	92cae91939
7:143048736 CLCN1 C>T	7	143048736	143048736	C	T	CLCN1	c.2645C>T	NM_000083.2	NP_000074.2:p.(Pro882Leu)	NC_000007.13:g.143048736C>T	VUS	1 lab	92cc22216e
2:166179813 SCN2A C>T	2	166179813	166179813	C	T	SCN2A	c.1819C>T	NM_021007.2	NP_066287.2:p.(Arg607Ter)	NC_000002.11:g.166179813C>T	(Likely) pathogenic	1 lab	92ce30df87
8:145738802 RECQL4 G>A	8	145738802	145738802	G	A	RECQL4	c.2263C>T	NM_004260.3	NP_004251.3:p.(Arg755Trp)	NC_000008.10:g.145738802G>A	VUS	1 lab	92ce93802e
2:168107864 XIRP2 T>A	2	168107864	168107864	T	A	XIRP2	c.9962T>A	NM_152381.5	NP_689594.4:p.(Met3321Lys)	NC_000002.11:g.168107864T>A	(Likely) benign	1 lab	92d1a8e79d
8:38273533 FGFR1 C>T	8	38273533	38273533	C	T	FGFR1	c.1709G>A	NM_023110.3	NP_075598.2:p.(Arg570Gln)	NC_000008.10:g.38273533C>T	VUS	1 lab	92d27def0b
3:38889156 SCN11A G>T	3	38889156	38889156	G	T	SCN11A	c.4405C>A	NM_014139.3	NP_054858.2:p.(Arg1469=)	NC_000003.11:g.38889156G>T	(Likely) benign	1 lab	92d76072f1
1:94485137 ABCA4 C>T	1	94485137	94485137	C	T	ABCA4	c.5196+1G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94485137C>T	(Likely) pathogenic	1 lab	92d7f60254
17:40491367 STAT3 C>G	17	40491367	40491367	C	G	STAT3	c.433G>C	NM_139276.3	NP_644805.1:p.(Glu145Gln)	NC_000017.10:g.40491367C>G	VUS	1 lab	92dc591c75
X:107814732 COL4A5 G>T	X	107814732	107814732	G	T	COL4A5	c.438+36G>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107814732G>T	(Likely) benign	1 lab	92de2d0511
15:43028749 CDAN1 T>A	15	43028749	43028749	T	A	CDAN1	c.320A>T	NM_138477.2	NP_612486.2:p.(Gln107Leu)	NC_000015.9:g.43028749T>A	(Likely) benign	1 lab	92e17a104b
6:131944504 MED23 C>A	6	131944504	131944504	C	A	MED23	c.383G>T	NM_004830.3	NP_004821.2:p.(Gly128Val)	NC_000006.11:g.131944504C>A	VUS	1 lab	92e189c818
19:18980055 GDF1 G>GGCC	19	18980055	18980056	G	GGCC	GDF1	c.469_470insGGC	NM_001492.5	NP_001483.3:p.(Ala157delinsGlyPro)	NC_000019.9:g.18980055_18980056insGCC	(Likely) benign	1 lab	92e1d35c1e
9:98643267 ERCC6L2 T>G	9	98643267	98643267	T	G	ERCC6L2				NC_000009.11:g.98643267T>G	(Likely) benign	1 lab	100559f89c
1:22159040 HSPG2 G>A	1	22159040	22159040	G	A	HSPG2	c.11155C>T	NM_005529.7	NP_005520.4:p.(Arg3719Trp)	NC_000001.10:g.22159040G>A	VUS	1 lab	080e261a28
13:32971308 BRCA2 G>A	13	32971308	32971308	G	A	BRCA2	c.9648+127G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971308G>A	(Likely) benign	1 lab	92e51e20c4
12:109937534 UBE3B G>A	12	109937534	109937534	G	A	UBE3B				NC_000012.11:g.109937534G>A	(Likely) benign	1 lab	9a5407fde3
11:2606510 KCNQ1 G>T	11	2606510	2606510	G	T	KCNQ1	c.1101G>T	NM_000218.3	NP_000209.2:p.(Gln367His)	NC_000011.9:g.2606510G>T	(Likely) pathogenic	1 lab	92e5aa6ecf
X:108904872 ACSL4 G>A	X	108904872	108904872	G	A	ACSL4	c.1585C>T	NM_004458.2	NP_004449.1:p.(Arg529Cys)	NC_000023.10:g.108904872G>A	(Likely) pathogenic	1 lab	92e611adc3
13:32910991 BRCA2 G>A	13	32910991	32910991	G	A	BRCA2	c.2499G>A	NM_000059.3	NP_000050.2:p.(Leu833=)	NC_000013.10:g.32910991G>A	(Likely) benign	1 lab	92e692b707
14:31346921 COCH G>A	14	31346921	31346921	G	A	COCH	c.226G>A	NM_004086.3	NP_004077.1:p.(Ala76Thr)	NC_000014.8:g.31346921G>A	VUS	1 lab	92e7dee2e0
17:39919372 JUP G>A	17	39919372	39919372	G	A	JUP	c.1360C>T	NM_002230.2	NP_002221.1:p.(Pro454Ser)	NC_000017.10:g.39919372G>A	VUS	1 lab	930098ac53
X:123227869 STAG2 C>CG	X	123227869	123227871	C	CG	STAG2	c.3582dup	NM_001042750.2	NP_001036215.1:p.(Arg1195AlafsTer9)	NC_000023.10:g.123227871dup	(Likely) pathogenic	1 lab	92e8b8c5f8
1:151378053 POGZ CCT>C	1	151378053	151378055	CCT	C	POGZ	c.3456_3457del	NM_015100.3	NP_055915.2:p.(Glu1154ThrfsTer4)	NC_000001.10:g.151378054_151378055del	(Likely) pathogenic	1 lab	92f0dfda02
1:247587992 NLRP3 G>T	1	247587992	247587992	G	T	NLRP3	c.1241G>T	NM_001243133.2	NP_001230062.1:p.(Trp414Leu)	NC_000001.10:g.247587992G>T	VUS	1 lab	0e021211e3
21:35821574 KCNE1 G>A	21	35821574	35821574	G	A	KCNE1	c.359C>T	NM_000219.4	NP_000210.2:p.(Thr120Ile)	NC_000021.8:g.35821574G>A	(Likely) benign	1 lab	92f2eaf1da
8:48805923 MISSING A>C	8	48805923	48805923	A	C	MISSING				NC_000008.10:g.48805923A>C	VUS	1 lab	92f3029bab
1:247587651 NLRP3 C>T	1	247587651	247587651	C	T	NLRP3	c.900C>T	NM_001243133.2	NP_001230062.1:p.(Asp300=)	NC_000001.10:g.247587651C>T	(Likely) benign	1 lab	0e03a20694
17:59793335 BRIP1 C>A	17	59793335	59793335	C	A	BRIP1	c.2469G>T	NM_032043.2	NP_114432.2:p.(Arg823Ser)	NC_000017.10:g.59793335C>A	VUS	1 lab	92f751d467
5:112164584 APC G>A	5	112164584	112164584	G	A	APC	c.1658G>A	NM_000038.6	NP_000029.2:p.(Trp553Ter)	NC_000005.9:g.112164584G>A	(Likely) pathogenic	1 lab	92f7eed799
20:62065242 KCNQ2 G>C	20	62065242	62065242	G	C	KCNQ2	c.1038C>G	NM_172107.3	NP_742105.1:p.(Phe346Leu)	NC_000020.10:g.62065242G>C	VUS	1 lab	92fbfd4bae
X:100662931 GLA C>G	X	100662931	100662931	C	G	GLA	c.-40G>C	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100662931C>G	(Likely) benign	1 lab	92fc27131d
3:37081676 MLH1 G>T	3	37081676	37081676	G	T	MLH1				NC_000003.11:g.37081676G>T	(Likely) pathogenic	1 lab	92ff6f49ac
12:116421085 MED13L G>A	12	116421085	116421085	G	A	MED13L	c.4792C>T	NM_015335.5	NP_056150.1:p.(Gln1598Ter)	NC_000012.11:g.116421085G>A	(Likely) pathogenic	1 lab	92ffa9f61f
17:42962639 EFTUD2 G>GT	17	42962639	42962640	G	GT	EFTUD2	c.334dup	NM_004247.3	NP_004238.3:p.(Thr112AsnfsTer4)	NC_000017.10:g.42962640dup	(Likely) pathogenic	1 lab	92ffed9823
16:9892233 GRIN2A C>T	16	9892233	9892233	C	T	GRIN2A				NC_000016.9:g.9892233C>T	VUS	1 lab	932ec2fab3
1:43393356 SLC2A1 G>A	1	43393356	43393356	G	A	SLC2A1	c.1198C>T	NM_006516.2	NP_006507.2:p.(Arg400Cys)	NC_000001.10:g.43393356G>A	(Likely) pathogenic	1 lab	930429e0fc
17:18039094 MYO15A A>T	17	18039094	18039094	A	T	MYO15A	c.4552A>T	NM_016239.4	NP_057323.3:p.(Ile1518Phe)	NC_000017.10:g.18039094A>T	VUS	1 lab	930fbe6012
12:5021041 KCNA1 C>T	12	5021041	5021041	C	T	KCNA1	c.497C>T	NM_000217.2	NP_000208.2:p.(Ala166Val)	NC_000012.11:g.5021041C>T	VUS	1 lab	93159c4f87
19:5082462 KDM4B T>C	19	5082462	5082462	T	C	KDM4B	c.865T>C	NM_015015.3	NP_055830.1:p.(Ser289Pro)	NC_000019.9:g.5082462T>C	VUS	1 lab	9315bd801f
3:30648474 TGFBR2 G>C	3	30648474	30648474	G	C	TGFBR2	c.94+5G>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30648474G>C	(Likely) pathogenic	1 lab	0e079758cf
16:56921931 SLC12A3 T>C	16	56921931	56921931	T	C	SLC12A3	c.2273T>C	NM_000339.2	NP_000330.2:p.(Ile758Thr)	NC_000016.9:g.56921931T>C	VUS	1 lab	9319d6045a
8:41798365 KAT6A G>A	8	41798365	41798365	G	A	KAT6A	c.3034C>T	NM_006766.5	NP_006757.2:p.(Arg1012Ter)	NC_000008.10:g.41798365G>A	(Likely) pathogenic	1 lab	931b27481e
9:119449609 TRIM32 G>C	9	119449609	119449609	G	C	TRIM32	c.-133G>C	NM_012210.3	NP_036342.2:p.?	NC_000009.11:g.119449609G>C	(Likely) benign	1 lab	931ec5ae76
16:27561510 KATNIP TG>T	16	27561510	27561513	TG	T	KATNIP	c.7+15del	NM_015202.5	NP_056017.4:p.?	NC_000016.9:g.27561513del	(Likely) benign	1 lab	0e0813c2b0
2:47705562 MSH2 A>C	2	47705562	47705562	A	C	MSH2	c.2362A>C	NM_000251.2	NP_000242.1:p.(Thr788Pro)	NC_000002.11:g.47705562A>C	VUS	1 lab	9320648866
19:49468652 FTL G>A	19	49468652	49468652	G	A	FTL	c.-113G>A	NM_000146.4	NP_000137.2:p.?	NC_000019.9:g.49468652G>A	(Likely) benign	1 lab	9329a827c8
15:43906154 STRC G>C	15	43906154	43906154	G	C	STRC	c.2411C>G	NM_153700.2	NP_714544.1:p.(Pro804Arg)	NC_000015.9:g.43906154G>C	VUS	1 lab	932b4f89e3
8:11679328 MISSING G>C	8	11679328	11679328	G	C	MISSING				NC_000008.10:g.11679328G>C	(Likely) pathogenic	1 lab	932dbd8114
11:61723342 BEST1 C>G	11	61723342	61723342	C	G	BEST1	c.400C>G	NM_004183.4	NP_004174.1:p.(Leu134Val)	NC_000011.9:g.61723342C>G	(Likely) pathogenic	1 lab	932ddafbb1
3:37067243 MLH1 G>A	3	37067243	37067243	G	A	MLH1	c.1154G>A	NM_000249.3	NP_000240.1:p.(Arg385His)	NC_000003.11:g.37067243G>A	(Likely) benign	1 lab	932ed38c69
16:67645905 CTCF G>A	16	67645905	67645905	G	A	CTCF	c.833G>A	NM_006565.4	NP_006556.1:p.(Arg278His)	NC_000016.9:g.67645905G>A	VUS	1 lab	932f055a8b
22:30035203 NF2 T>C	22	30035203	30035203	T	C	NF2	c.363+2T>C	NM_000268.4	NP_000259.1:p.?	NC_000022.10:g.30035203T>C	(Likely) pathogenic	1 lab	93329c85b3
5:71493027 MAP1B C>T	5	71493027	71493027	C	T	MAP1B	c.3845C>T	NM_005909.5	NP_005900.2:p.(Thr1282Met)	NC_000005.9:g.71493027C>T	VUS	1 lab	081419e731
2:227872755 COL4A4 C>T	2	227872755	227872755	C	T	COL4A4	c.4788G>A	NM_000092.4	NP_000083.3:p.(Trp1596Ter)	NC_000002.11:g.227872755C>T	(Likely) pathogenic	1 lab	93351333d5
12:116413474 MED13L GCT>G	12	116413474	116413478	GCT	G	MED13L	c.5432_5433del	NM_015335.5	NP_056150.1:p.(Glu1811AlafsTer7)	NC_000012.11:g.116413477_116413478del	(Likely) pathogenic	1 lab	9337834b21
2:241727514 KIF1A G>T	2	241727514	241727514	G	T	KIF1A	c.317C>A	NM_001244008.1	NP_001230937.1:p.(Thr106Asn)	NC_000002.11:g.241727514G>T	(Likely) pathogenic	1 lab	933895bbc0
3:194168743 ATP13A3 C>CA	3	194168743	194168750	C	CA	ATP13A3	c.1151-6dup	NM_024524.4	NP_078800.3:p.?	NC_000003.11:g.194168750dup	(Likely) benign	1 lab	08172757fd
22:32302129 DEPDC5 C>A	22	32302129	32302129	C	A	DEPDC5	c.4520-62C>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32302129C>A	(Likely) benign	1 lab	0e0b1a4dd0
12:57970116 KIF5A G>T	12	57970116	57970116	G	T	KIF5A	c.2153G>T	NM_004984.3	NP_004975.2:p.(Arg718Leu)	NC_000012.11:g.57970116G>T	VUS	1 lab	934455f780
3:121980613 CASR C>T	3	121980613	121980613	C	T	CASR	c.731C>T	NM_000388.4	NP_000379.3:p.(Ser244Phe)	NC_000003.11:g.121980613C>T	VUS	1 lab	9345726f3d
16:23649423 PALB2 T>A	16	23649423	23649423	T	A	PALB2	c.76A>T	NM_024675.3	NP_078951.2:p.(Arg26Trp)	NC_000016.9:g.23649423T>A	VUS	1 lab	93479f86e5
13:32911652 BRCA2 G>C	13	32911652	32911652	G	C	BRCA2	c.3160G>C	NM_000059.3	NP_000050.2:p.(Asp1054His)	NC_000013.10:g.32911652G>C	VUS	1 lab	9348bf199e
17:29559191 NF1 TCA>T	17	29559191	29559195	TCA	T	NF1	c.3301_3302del	NM_001042492.3	NP_001035957.1:p.(Gln1101ValfsTer4)	NC_000017.10:g.29559194_29559195del	(Likely) pathogenic	1 lab	934a6c52fa
X:53222713 KDM5C A>G	X	53222713	53222713	A	G	KDM5C	c.4223T>C	NM_004187.5	NP_004178.2:p.(Leu1408Pro)	NC_000023.10:g.53222713A>G	(Likely) benign	1 lab	934afde5fe
9:386427 DOCK8 G>T	9	386427	386427	G	T	DOCK8	c.2874+1G>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.386427G>T	(Likely) pathogenic	1 lab	934cd994ef
3:38739664 SCN10A G>A	3	38739664	38739664	G	A	SCN10A	c.5047C>T	NM_006514.4	NP_006505.4:p.(Pro1683Ser)	NC_000003.11:g.38739664G>A	(Likely) benign	1 lab	93503310bb
2:179440942 TTN A>G	2	179440942	179440942	A	G	TTN	c.69917T>C	NM_001267550.2	NP_001254479.2:p.(Leu23306Pro)	NC_000002.11:g.179440942A>G	VUS	1 lab	9357b3fd85
6:133846349 EYA4 T>C	6	133846349	133846349	T	C	EYA4	c.1796T>C	NM_004100.5	NP_004091.3:p.(Val599Ala)	NC_000006.11:g.133846349T>C	(Likely) benign	1 lab	935a589928
17:40695246 NAGLU C>T	17	40695246	40695246	C	T	NAGLU	c.1222C>T	NM_000263.4	NP_000254.2:p.(His408Tyr)	NC_000017.10:g.40695246C>T	VUS	1 lab	081c93acb7
11:118178008 CD3E G>A	11	118178008	118178008	G	A	CD3E	c.55G>A	NM_000733.4	NP_000724.1:p.(Val19Ile)	NC_000011.9:g.118178008G>A	(Likely) pathogenic	1 lab	935b53f333
2:228125784 COL4A3 T>G	2	228125784	228125784	T	G	COL4A3	c.1115-14T>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228125784T>G	(Likely) benign	1 lab	935dc393ba
2:215910574 ABCA12 G>A	2	215910574	215910574	G	A	ABCA12	c.859C>T	NM_173076.2	NP_775099.2:p.(Arg287Ter)	NC_000002.11:g.215910574G>A	(Likely) pathogenic	1 lab	9363294c20
11:121059858 TECTA G>A	11	121059858	121059858	G	A	TECTA				NC_000011.9:g.121059858G>A	VUS	1 lab	a682949574
3:43618661 ANO10 C>A	3	43618661	43618661	C	A	ANO10	c.685G>T	NM_018075.3	NP_060545.3:p.(Gly229Trp)	NC_000003.11:g.43618661C>A	VUS	1 lab	93655fefbd
X:100615745 BTK T>C	X	100615745	100615745	T	C	BTK	c.589-2A>G	NM_000061.2	NP_000052.1:p.?	NC_000023.10:g.100615745T>C	(Likely) pathogenic	1 lab	0e0bccd535
16:23646707 PALB2 G>A	16	23646707	23646707	G	A	PALB2	c.1160C>T	NM_024675.3	NP_078951.2:p.(Ser387Phe)	NC_000016.9:g.23646707G>A	VUS	1 lab	936ab1be11
19:39028620 RYR1 G>T	19	39028620	39028620	G	T	RYR1	c.11689+20G>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39028620G>T	(Likely) benign	1 lab	936b1d2af9
18:29098323 DSG2 G>A	18	29098323	29098323	G	A	DSG2	c.81+86G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29098323G>A	(Likely) benign	1 lab	936b1d7485
2:45170049 SIX3 G>T	2	45170049	45170049	G	T	SIX3	c.806G>T	NM_005413.3	NP_005404.1:p.(Arg269Met)	NC_000002.11:g.45170049G>T	(Likely) pathogenic	1 lab	937021be3d
17:76115353 TMC6 T>C	17	76115353	76115353	T	C	TMC6	c.1811+25A>G	NM_001127198.1	NP_001120670.1:p.?	NC_000017.10:g.76115353T>C	(Likely) benign	1 lab	937121f2d8
X:153134109 L1CAM G>A	X	153134109	153134109	G	A	L1CAM	c.1453C>T	NM_001278116.1	NP_001265045.1:p.(Arg485Ter)	NC_000023.10:g.153134109G>A	(Likely) pathogenic	1 lab	93740c269d
13:113771899 F7 TCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC>T	13	113771899	113771953	TCGCGGTGCTGGGTGGGTACCACTCTCCCCTGTCCGAC	T	F7	c.805+7_805+43del	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113771917_113771953del	(Likely) benign	1 lab	081ffc6418
12:110720602 ATP2A2 T>A	12	110720602	110720602	T	A	ATP2A2	c.219+2T>A	NM_170665.3	NP_733765.1:p.?	NC_000012.11:g.110720602T>A	(Likely) pathogenic	1 lab	93767fcf02
12:52200120 SCN8A G>C	12	52200120	52200120	G	C	SCN8A	c.4850G>C	NM_014191.3	NP_055006.1:p.(Arg1617Pro)	NC_000012.11:g.52200120G>C	(Likely) pathogenic	1 lab	9377f4fcd3
X:43809182 NDP A>G	X	43809182	43809182	A	G	NDP	c.265T>C	NM_000266.3	NP_000257.1:p.(Phe89Leu)	NC_000023.10:g.43809182A>G	(Likely) pathogenic	1 lab	937b2431f7
2:179554278 TTN T>C	2	179554278	179554278	T	C	TTN	c.31891A>G	NM_001267550.2	NP_001254479.2:p.(Ile10631Val)	NC_000002.11:g.179554278T>C	(Likely) benign	1 lab	937dacfb2b
11:121058600 TECTA G>A	11	121058600	121058600	G	A	TECTA				NC_000011.9:g.121058600G>A	VUS	1 lab	937fd45ab4
22:36716878 MYH9 T>C	22	36716878	36716878	T	C	MYH9	c.833A>G	NM_002473.6	NP_002464.1:p.(Tyr278Cys)	NC_000022.10:g.36716878T>C	VUS	1 lab	9380f64e71
17:29550482 NF1 T>G	17	29550482	29550482	T	G	NF1	c.1742T>G	NM_000267.3	NP_000258.1:p.(Ile581Ser)	NC_000017.10:g.29550482T>G	(Likely) pathogenic	1 lab	9382f17fba
5:167944932 RARS1 C>T	5	167944932	167944932	C	T	RARS1	c.1738C>T	NM_002887.4	NP_002878.2:p.(Arg580Trp)	NC_000005.9:g.167944932C>T	VUS	1 lab	08264b21aa
X:70596844 TAF1 C>T	X	70596844	70596844	C	T	TAF1	c.517C>T	NM_004606.5	NP_004597.3:p.(Pro173Ser)	NC_000023.10:g.70596844C>T	VUS	1 lab	08271841ac
8:1882008 ARHGEF10 G>C	8	1882008	1882008	G	C	ARHGEF10	c.3122G>C	NM_014629.4	NP_055444.2:p.(Gly1041Ala)	NC_000008.10:g.1882008G>C	VUS	1 lab	938c32fd78
X:14863268 FANCB C>A	X	14863268	14863268	C	A	FANCB	c.1637G>T	NM_001018113.3	NP_001018123.1:p.(Gly546Val)	NC_000023.10:g.14863268C>A	VUS	1 lab	08276c54b2
9:98224188 PTCH1 TGTAGGCAA>T	9	98224188	98224197	TGTAGGCAA	T	PTCH1	c.2645_2652del	NM_000264.3	NP_000255.2:p.(Leu882GlnfsTer11)	NC_000009.11:g.98224190_98224197del	(Likely) pathogenic	1 lab	938d91e948
6:32006079 CYP21A2 C>T	6	32006079	32006079	C	T	CYP21A2				NC_000006.11:g.32006079C>T	(Likely) benign	1 lab	938e580ddb
4:57349285 SRP72 G>A	4	57349285	57349285	G	A	SRP72	c.826-20G>A	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57349285G>A	(Likely) benign	1 lab	0e1a82029a
1:156085037 LMNA C>A	1	156085037	156085037	C	A	LMNA	c.328C>A	NM_170707.4	NP_733821.1:p.(Arg110Ser)	NC_000001.10:g.156085037C>A	VUS	1 lab	9390125044
7:128470983 FLNC G>C	7	128470983	128470983	G	C	FLNC	c.292G>C	NM_001458.5	NP_001449.3:p.(Glu98Gln)	NC_000007.13:g.128470983G>C	VUS	1 lab	93908ae23c
20:10632813 JAG1 G>T	20	10632813	10632813	G	T	JAG1	c.972C>A	NM_000214.3	NP_000205.1:p.(Cys324Ter)	NC_000020.10:g.10632813G>T	(Likely) pathogenic	1 lab	93923cba92
11:111899361 DLAT C>T	11	111899361	111899361	C	T	DLAT	c.504C>T	NM_001931.5	NP_001922.2:p.(Gly168=)	NC_000011.9:g.111899361C>T	VUS	1 lab	939679e970
1:241661200 FH G>A	1	241661200	241661200	G	A	FH	c.1461C>T	NM_000143.3	NP_000134.2:p.(Ile487=)	NC_000001.10:g.241661200G>A	(Likely) benign	1 lab	9398398f7a
2:47693949 MSH2 T>A	2	47693949	47693949	T	A	MSH2	c.1661+2T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693949T>A	(Likely) pathogenic	1 lab	9399c895a3
19:50826601 KCNC3 C>T	19	50826601	50826601	C	T	KCNC3	c.1609G>A	NM_004977.2	NP_004968.2:p.(Val537Ile)	NC_000019.9:g.50826601C>T	VUS	1 lab	939aa8abaa
12:133254290 POLE G>A	12	133254290	133254290	G	A	POLE	c.594C>T	NM_006231.4	NP_006222.2:p.(Gly198=)	NC_000012.11:g.133254290G>A	(Likely) benign	1 lab	939f9d8a49
7:25163635 CYCS C>A	7	25163635	25163635	C	A	CYCS	c.104G>T	NM_018947.6	NP_061820.1:p.(Gly35Val)	NC_000007.13:g.25163635C>A	(Likely) pathogenic	1 lab	93a2737d19
6:43550052 POLH G>A	6	43550052	43550052	G	A	POLH	c.-4-1G>A	NM_006502.3	NP_006493.1:p.?	NC_000006.11:g.43550052G>A	(Likely) pathogenic	1 lab	0832dd0661
14:23884861 MYH7 G>A	14	23884861	23884861	G	A	MYH7	c.5134C>T	NM_000257.2	NP_000248.2:p.(Arg1712Trp)	NC_000014.8:g.23884861G>A	VUS	1 lab	93a76f0ca1
1:1275477 DVL1 T>C	1	1275477	1275477	T	C	DVL1	c.850A>G	NM_001330311.2	NP_001317240.1:p.(Met284Val)	NC_000001.10:g.1275477T>C	VUS	1 lab	14efb160cc
17:33445685 RAD51D C>G	17	33445685	33445685	C	G	RAD51D	c.145-47G>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33445685C>G	(Likely) benign	1 lab	93a9459b7c
11:1475827 BRSK2 G>A	11	1475827	1475827	G	A	BRSK2	c.1657G>A	NM_001256627.1	NP_001243556.1:p.(Ala553Thr)	NC_000011.9:g.1475827G>A	VUS	1 lab	93aac02529
12:111351186 MYL2 C>T	12	111351186	111351186	C	T	MYL2	c.275-58G>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351186C>T	(Likely) benign	1 lab	93ad0515ae
22:46832075 CELSR1 A>G	22	46832075	46832075	A	G	CELSR1	c.4518T>C	NM_014246.1	NP_055061.1:p.(Ser1506=)	NC_000022.10:g.46832075A>G	(Likely) benign	1 lab	93afe3b2c2
3:38784056 SCN10A A>C	3	38784056	38784056	A	C	SCN10A	c.1868-36T>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38784056A>C	(Likely) benign	1 lab	93b08504a3
12:80613686 OTOGL C>T	12	80613686	80613686	C	T	OTOGL	c.301C>T	NM_173591.3	NP_775862.3:p.(Gln101Ter)	NC_000012.11:g.80613686C>T	(Likely) pathogenic	1 lab	93b14dba7d
1:94543384 ABCA4 A>G	1	94543384	94543384	A	G	ABCA4	c.1416T>C	NM_000350.3	NP_000341.2:p.(Gly472=)	NC_000001.10:g.94543384A>G	(Likely) benign	1 lab	93b3813dd1
18:48603041 SMAD4 C>T	18	48603041	48603041	C	T	SMAD4	c.1342C>T	NM_005359.6	NP_005350.1:p.(Gln448Ter)	NC_000018.9:g.48603041C>T	(Likely) pathogenic	1 lab	93b74e898a
2:37374048 EIF2AK2 G>C	2	37374048	37374048	G	C	EIF2AK2	c.188C>G	NM_001135651.3	NP_001129123.1:p.(Ala63Gly)	NC_000002.11:g.37374048G>C	VUS	1 lab	0834896a90
16:2161213 PKD1 C>T	16	2161213	2161213	C	T	PKD1	c.3955G>A	NM_001009944.2	NP_001009944.2:p.(Gly1319Arg)	NC_000016.9:g.2161213C>T	(Likely) pathogenic	1 lab	93c36f50c8
1:12198362 TNFRSF8 C>A	1	12198362	12198362	C	A	TNFRSF8	c.1412C>A	NM_001243.5	NP_001234.3:p.(Thr471Asn)	NC_000001.10:g.12198362C>A	(Likely) benign	1 lab	0e1bbe25a6
1:152280644 FLG C>A	1	152280644	152280644	C	A	FLG	c.6718G>T	NM_002016.2	NP_002007.1:p.(Gly2240Ter)	NC_000001.10:g.152280644C>A	(Likely) pathogenic	1 lab	93c545e21b
8:75272287 GDAP1 T>C	8	75272287	75272287	T	C	GDAP1	c.311-85T>C	NM_018972.2	NP_061845.2:p.?	NC_000008.10:g.75272287T>C	(Likely) benign	1 lab	9f36877582
7:116422081 MET G>T	7	116422081	116422081	G	T	MET	c.3616G>T	NM_001127500.1	NP_001120972.1:p.(Val1206Leu)	NC_000007.13:g.116422081G>T	(Likely) pathogenic	1 lab	0e1ca989e3
7:140624508 BRAF T>C	7	140624508	140624508	T	C	BRAF	c.-5A>G	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140624508T>C	(Likely) benign	1 lab	93c97d9af0
18:29176134 TTR A>C	18	29176134	29176134	A	C	TTR	c.336+916A>C	NM_000371.4	NP_000362.1:p.?	NC_000018.9:g.29176134A>C	(Likely) benign	1 lab	93cb1a5217
5:88119631 MEF2C G>A	5	88119631	88119631	G	A	MEF2C	c.-26C>T	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88119631G>A	(Likely) pathogenic	1 lab	93cd74cf2e
6:7562952 DSP G>T	6	7562952	7562952	G	T	DSP	c.665G>T	NM_004415.2	NP_004406.2:p.(Arg222Leu)	NC_000006.11:g.7562952G>T	VUS	1 lab	a90d77c1b0
9:6588676 GLDC C>T	9	6588676	6588676	C	T	GLDC	c.1607G>A	NM_000170.2	NP_000161.2:p.(Arg536Gln)	NC_000009.11:g.6588676C>T	(Likely) pathogenic	1 lab	0e1faf5eb5
16:51171324 SALL1 G>C	16	51171324	51171324	G	C	SALL1	c.3674C>G	NM_002968.2	NP_002959.2:p.(Ser1225Ter)	NC_000016.9:g.51171324G>C	VUS	1 lab	93d4ce734a
20:33524779 GSS T>C	20	33524779	33524779	T	C	GSS	c.656A>G	NM_000178.2	NP_000169.1:p.(Asp219Gly)	NC_000020.10:g.33524779T>C	(Likely) pathogenic	1 lab	93d5b4b098
3:81810533 GBE1 G>A	3	81810533	81810533	G	A	GBE1	c.136C>T	NM_000158.4	NP_000149.4:p.(Gln46Ter)	NC_000003.11:g.81810533G>A	(Likely) pathogenic	1 lab	93d5b9714a
3:11078534 SLC6A1 C>G	3	11078534	11078534	C	G	SLC6A1				NC_000003.11:g.11078534C>G	(Likely) benign	1 lab	93d9322a7d
12:52115659 SCN8A C>T	12	52115659	52115659	C	T	SCN8A	c.1965C>T	NM_001330260.2	NP_001317189.1:p.(Pro655=)	NC_000012.11:g.52115659C>T	(Likely) benign	1 lab	93da695ce8
13:32950837 BRCA2 G>A	13	32950837	32950837	G	A	BRCA2	c.8663G>A	NM_000059.3	NP_000050.2:p.(Arg2888His)	NC_000013.10:g.32950837G>A	(Likely) benign	1 lab	93dd77b0f4
X:38182792 RPGR C>T	X	38182792	38182792	C	T	RPGR	c.29-15G>A	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38182792C>T	(Likely) benign	1 lab	93de862d74
2:220283446 DES C>G	2	220283446	220283446	C	G	DES	c.262C>G	NM_001927.3	NP_001918.3:p.(Leu88Val)	NC_000002.11:g.220283446C>G	VUS	1 lab	93dfd8a642
4:79321770 FRAS1 A>ATC	4	79321770	79321777	A	ATC	FRAS1	c.3976-112_3976-111dup	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79321776_79321777dup	(Likely) benign	1 lab	0e21dea418
11:120998799 TECTA T>C	11	120998799	120998799	T	C	TECTA				NC_000011.9:g.120998799T>C	VUS	1 lab	93e3130989
11:120983788 TECTA C>T	11	120983788	120983788	C	T	TECTA				NC_000011.9:g.120983788C>T	VUS	1 lab	93e3a542b4
5:176935443 DOK3 G>A	5	176935443	176935443	G	A	DOK3	c.167C>T	NM_001144875.2	NP_001138347.1:p.(Ala56Val)	NC_000005.9:g.176935443G>A	(Likely) benign	1 lab	0e25119822
1:100336010 AGL A>G	1	100336010	100336010	A	G	AGL	c.719A>G	NM_000642.3	NP_000633.2:p.(Asn240Ser)	NC_000001.10:g.100336010A>G	VUS	1 lab	93f21fd806
7:128483543 FLNC G>C	7	128483543	128483543	G	C	FLNC	c.2723G>C	NM_001458.4	NP_001449.3:p.(Gly908Ala)	NC_000007.13:g.128483543G>C	(Likely) benign	1 lab	93f272638c
22:51018619 CHKB CT>C	22	51018619	51018620	CT	C	CHKB	c.817del	NM_005198.4	NP_005189.2:p.(Arg273GlyfsTer68)	NC_000022.10:g.51018620del	(Likely) pathogenic	1 lab	93f2a6d1a0
1:241675492 FH C>T	1	241675492	241675492	C	T	FH	c.379-49G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241675492C>T	(Likely) benign	1 lab	93f33d311f
9:371442 DOCK8 A>T	9	371442	371442	A	T	DOCK8	c.1883A>T	NM_203447.3	NP_982272.2:p.(Tyr628Phe)	NC_000009.11:g.371442A>T	VUS	1 lab	93f574c898
6:157527328 ARID1B G>T	6	157527328	157527328	G	T	ARID1B	c.5053G>T	NM_020732.3	NP_065783.3:p.(Glu1685Ter)	NC_000006.11:g.157527328G>T	(Likely) pathogenic	1 lab	93f58ef4fc
1:111661413 DRAM2 T>C	1	111661413	111661413	T	C	DRAM2	c.693+14A>G	NM_178454.5	NP_848549.3:p.?	NC_000001.10:g.111661413T>C	(Likely) benign	1 lab	93f7b04c6e
14:64596551 SYNE2 A>G	14	64596551	64596551	A	G	SYNE2	c.14071A>G	NM_182914.2	NP_878918.2:p.(Lys4691Glu)	NC_000014.8:g.64596551A>G	(Likely) benign	1 lab	93fba081a9
4:6303247 WFS1 C>T	4	6303247	6303247	C	T	WFS1	c.1725C>T	NM_006005.3	NP_005996.2:p.(Ala575=)	NC_000004.11:g.6303247C>T	(Likely) benign	1 lab	93fd298f23
16:16248657 ABCC6 G>A	16	16248657	16248657	G	A	ABCC6	c.4042-6C>T	NM_001171.5	NP_001162.4:p.?	NC_000016.9:g.16248657G>A	(Likely) benign	1 lab	93ffef8602
1:3328455 PRDM16 GC>G	1	3328455	3328456	GC	G	PRDM16	c.1695del	NM_022114.3	NP_071397.3:p.(Ser565ArgfsTer27)	NC_000001.10:g.3328456del	VUS	1 lab	9400570049
21:47422638 COL6A1 C>CGCCCGG	21	47422638	47422639	C	CGCCCGG	COL6A1	c.2434+14_2434+15insGCCCGG	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47422638_47422639insGCCCGG	VUS	1 lab	9400c3ed90
16:3293154 MEFV T>A	16	3293154	3293154	T	A	MEFV	c.2333A>T	NM_000243.2	NP_000234.1:p.(Gln778Leu)	NC_000016.9:g.3293154T>A	VUS	1 lab	0e282545d0
1:155205605 GBA1 C>A	1	155205605	155205605	C	A	GBA1	c.1255G>T	NM_000157.4	NP_000148.2:p.(Asp419Tyr)	NC_000001.10:g.155205605C>A	VUS	1 lab	94058ca09c
5:89990545 ADGRV1 C>T	5	89990545	89990545	C	T	ADGRV1	c.7945+27C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89990545C>T	(Likely) benign	1 lab	0e29034b57
1:74737274 TNNI3K C>T	1	74737274	74737274	C	T	TNNI3K	c.334-8C>T	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74737274C>T	(Likely) benign	1 lab	940e1014c0
2:179501313 TTN G>T	2	179501313	179501313	G	T	TTN	c.33437C>A	NM_133378.4	NP_596869.4:p.(Thr11146Asn)	NC_000002.11:g.179501313G>T	VUS	1 lab	94112749f1
19:50909405 POLD1 G>A	19	50909405	50909405	G	A	POLD1	c.1243-34G>A	NM_002691.3	NP_002682.2:p.?	NC_000019.9:g.50909405G>A	(Likely) benign	1 lab	94119f763d
7:151573795 PRKAG2 C>A	7	151573795	151573795	C	A	PRKAG2	c.-90G>T	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151573795C>A	(Likely) benign	1 lab	94120fb2a5
19:1397488 GAMT A>G	19	1397488	1397488	A	G	GAMT	c.581T>C	NM_000156.6	NP_000147.1:p.(Val194Ala)	NC_000019.9:g.1397488A>G	(Likely) benign	1 lab	0e2990c25c
11:46742048 F2 C>G	11	46742048	46742048	C	G	F2	c.241-25C>G	NM_000506.3	NP_000497.1:p.?	NC_000011.9:g.46742048C>G	VUS	1 lab	941806970a
19:10935797 DNM2 T>G	19	10935797	10935797	T	G	DNM2	c.1958T>G	NM_001005361.3	NP_001005361.1:p.(Val653Gly)	NC_000019.9:g.10935797T>G	(Likely) benign	1 lab	941c3e4563
19:46088060 OPA3 T>C	19	46088060	46088060	T	C	OPA3	c.-38A>G	NM_001017989.2	NP_001017989.2:p.?	NC_000019.9:g.46088060T>C	(Likely) benign	1 lab	94235552ea
17:27822696 TAOK1 T>C	17	27822696	27822696	T	C	TAOK1	c.950T>C	NM_020791.4	NP_065842.1:p.(Phe317Ser)	NC_000017.10:g.27822696T>C	VUS	1 lab	94260ddabf
4:47939824 CNGA1 CA>C	4	47939824	47939825	CA	C	CNGA1	c.686del	NM_000087.3	NP_000078.2:p.(Leu229ArgfsTer2)	NC_000004.11:g.47939825del	(Likely) pathogenic	1 lab	94265a0bd9
10:123353405 FGFR2 C>T	10	123353405	123353405	C	T	FGFR2	c.-74G>A	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123353405C>T	(Likely) benign	1 lab	94269baf08
1:226578099 PARP1 T>C	1	226578099	226578099	T	C	PARP1	c.617+12A>G	NM_001618.4	NP_001609.2:p.?	NC_000001.10:g.226578099T>C	(Likely) benign	1 lab	083d070637
4:16035015 PROM1 C>T	4	16035015	16035015	C	T	PROM1				NC_000004.11:g.16035015C>T	VUS	1 lab	94295c168a
7:92764432 SAMD9L G>A	7	92764432	92764432	G	A	SAMD9L	c.853C>T	NM_152703.5	NP_689916.2:p.(Arg285Trp)	NC_000007.13:g.92764432G>A	VUS	1 lab	0841432449
19:50123697 PRR12 TG>T	19	50123697	50123698	TG	T	PRR12	c.5587del	NM_020719.2	NP_065770.1:p.(Asp1863ThrfsTer4)	NC_000019.9:g.50123698del	(Likely) pathogenic	1 lab	9429fbb777
2:73613031 MISSING TGGA>T	2	73613031	73613070	TGGA	T	MISSING				NC_000002.11:g.73613068_73613070del	(Likely) benign	1 lab	942c43f146
4:129965201 SCLT1 A>G	4	129965201	129965201	A	G	SCLT1	c.108T>C	NM_144643.4	NP_653244.2:p.(Ala36=)	NC_000004.11:g.129965201A>G	(Likely) benign	1 lab	1f3d0d82e1
1:57422484 C8B C>T	1	57422484	57422484	C	T	C8B	c.193G>A	NM_001278543.2	NP_001265472.2:p.(Gly65Arg)	NC_000001.10:g.57422484C>T	(Likely) benign	1 lab	084363fe97
10:21102947 NEBL T>G	10	21102947	21102947	T	G	NEBL	c.2267A>C	NM_006393.2	NP_006384.1:p.(Gln756Pro)	NC_000010.10:g.21102947T>G	(Likely) benign	1 lab	943888c512
10:18803440 CACNB2 C>T	10	18803440	18803440	C	T	CACNB2	c.506C>T	NM_001330060.1	NP_001316989.1:p.(Ala169Val)	NC_000010.10:g.18803440C>T	VUS	1 lab	943d479feb
18:29115300 DSG2 G>A	18	29115300	29115300	G	A	DSG2	c.1348G>A	NM_001943.4	NP_001934.2:p.(Ala450Thr)	NC_000018.9:g.29115300G>A	(Likely) benign	1 lab	9443263576
5:112173647 APC C>T	5	112173647	112173647	C	T	APC	c.2356C>T	NM_000038.6	NP_000029.2:p.(Arg786Cys)	NC_000005.9:g.112173647C>T	VUS	1 lab	94492ec24a
14:23882302 MYH7 C>G	14	23882302	23882302	C	G	MYH7	c.5791-222G>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23882302C>G	(Likely) benign	1 lab	944ecd2135
6:47445789 CD2AP A>C	6	47445789	47445789	A	C	CD2AP	c.-192A>C	NM_012120.2	NP_036252.1:p.?	NC_000006.11:g.47445789A>C	(Likely) benign	1 lab	9450330c39
8:65711089 CYP7B1 A>G	8	65711089	65711089	A	G	CYP7B1	c.56T>C	NM_004820.3	NP_004811.1:p.(Leu19Pro)	NC_000008.10:g.65711089A>G	(Likely) benign	1 lab	9455418186
2:73679391 ALMS1 GT>G	2	73679391	73679393	GT	G	ALMS1	c.5742del	NM_015120.4	NP_055935.4:p.(Thr1915LeufsTer5)	NC_000002.11:g.73679393del	(Likely) pathogenic	1 lab	945574964c
1:216246252 USH2A G>A	1	216246252	216246252	G	A	USH2A	c.5836C>T	NM_206933.2	NP_996816.2:p.(Arg1946Ter)	NC_000001.10:g.216246252G>A	(Likely) pathogenic	1 lab	945667b8d8
7:19156528 TWIST1 G>GGGCAGCGTGGGGATGATCTTC	7	19156528	19156549	G	GGGCAGCGTGGGGATGATCTTC	TWIST1	c.396_416dup	NM_000474.3	NP_000465.1:p.(Lys133_Pro139dup)	NC_000007.13:g.19156529_19156549dup	(Likely) pathogenic	1 lab	94582bcf1a
19:10922991 DNM2 G>A	19	10922991	10922991	G	A	DNM2	c.1609G>A	NM_001005361.2	NP_001005361.1:p.(Gly537Ser)	NC_000019.9:g.10922991G>A	VUS	1 lab	9458a3b03e
22:51064111 ARSA T>C	22	51064111	51064111	T	C	ARSA	c.1108-2A>G	NM_000487.5	NP_000478.3:p.?	NC_000022.10:g.51064111T>C	(Likely) pathogenic	1 lab	945a8678b0
10:298344 ZMYND11 C>G	10	298344	298344	C	G	ZMYND11	c.1743C>G	NM_006624.5	NP_006615.2:p.(Cys581Trp)	NC_000010.10:g.298344C>G	VUS	1 lab	945d57c5a4
2:179408296 TTN G>A	2	179408296	179408296	G	A	TTN	c.96404C>T	NM_001267550.2	NP_001254479.2:p.(Ala32135Val)	NC_000002.11:g.179408296G>A	VUS	1 lab	945ddf3cbe
12:6101079 VWF C>T	12	6101079	6101079	C	T	VWF	c.6704G>A	NM_000552.3	NP_000543.2:p.(Cys2235Tyr)	NC_000012.11:g.6101079C>T	VUS	1 lab	9462354896
13:110828788 COL4A1 C>T	13	110828788	110828788	C	T	COL4A1	c.3041G>A	NM_001845.5	NP_001836.3:p.(Gly1014Asp)	NC_000013.10:g.110828788C>T	VUS	1 lab	94632642fe
1:169519894 F5 G>A	1	169519894	169519894	G	A	F5	c.1380C>T	NM_000130.4	NP_000121.2:p.(Asn460=)	NC_000001.10:g.169519894G>A	(Likely) benign	1 lab	9467245670
2:220115266 TUBA4A G>A	2	220115266	220115266	G	A	TUBA4A	c.1155C>T	NM_006000.3	NP_005991.1:p.(Ala385=)	NC_000002.11:g.220115266G>A	(Likely) benign	1 lab	0e2b90fcbc
1:196879471 CFHR4 G>A	1	196879471	196879471	G	A	CFHR4	c.860G>A	NM_001201550.3	NP_001188479.1:p.(Arg287His)	NC_000001.10:g.196879471G>A	(Likely) benign	1 lab	946a616d08
6:79655879 PHIP T>C	6	79655879	79655879	T	C	PHIP	c.4469A>G	NM_017934.7	NP_060404.4:p.(Asn1490Ser)	NC_000006.11:g.79655879T>C	(Likely) benign	1 lab	0845591cad
3:52436834 BAP1 CG>C	3	52436834	52436835	CG	C	BAP1	c.1943del	NM_004656.4	NP_004647.1:p.(Ala648GlyfsTer7)	NC_000003.11:g.52436835del	(Likely) pathogenic	1 lab	084684f3be
X:21666945 CNKSR2 G>A	X	21666945	21666945	G	A	CNKSR2	c.2693-4G>A	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21666945G>A	(Likely) benign	1 lab	0847630f19
6:26091336 HFE T>A	6	26091336	26091336	T	A	HFE	c.340+4T>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26091336T>A	VUS	1 lab	946d40d16c
5:112170815 APC GA>G	5	112170815	112170816	GA	G	APC	c.1912del	NM_000038.6	NP_000029.2:p.(Ile638TyrfsTer8)	NC_000005.9:g.112170816del	(Likely) pathogenic	1 lab	946d6355c3
11:31815044 PAX6 GT>G	11	31815044	31815045	GT	G	PAX6	c.973del	NM_000280.4	NP_000271.1:p.(Thr325ProfsTer40)	NC_000011.9:g.31815045del	(Likely) pathogenic	1 lab	947017e71a
20:61987822 CHRNA4 C>T	20	61987822	61987822	C	T	CHRNA4	c.229-55G>A	NM_000744.6	NP_000735.1:p.?	NC_000020.10:g.61987822C>T	(Likely) benign	1 lab	a050860ad9
4:187208864 F11 G>C	4	187208864	187208864	G	C	F11	c.1603G>C	NM_000128.3	NP_000119.1:p.(Ala535Pro)	NC_000004.11:g.187208864G>C	VUS	1 lab	9474cc198f
X:107850092 COL4A5 A>T	X	107850092	107850092	A	T	COL4A5	c.2365A>T	NM_033380.3	NP_203699.1:p.(Thr789Ser)	NC_000023.10:g.107850092A>T	VUS	1 lab	947be7154d
1:237923159 RYR2 A>T	1	237923159	237923159	A	T	RYR2	c.11402+7A>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237923159A>T	(Likely) benign	1 lab	947c74eebe
7:5568131 ACTB C>T	7	5568131	5568131	C	T	ACTB				NC_000007.13:g.5568131C>T	(Likely) pathogenic	1 lab	a3f4b12c65
6:118015323 NUS1 A>G	6	118015323	118015323	A	G	NUS1	c.671A>G	NM_138459.5	NP_612468.1:p.(Asp224Gly)	NC_000006.11:g.118015323A>G	(Likely) pathogenic	1 lab	94801b30c8
17:39671830 KRT15 C>T	17	39671830	39671830	C	T	KRT15	c.1141G>A	NM_002275.4	NP_002266.3:p.(Glu381Lys)	NC_000017.10:g.39671830C>T	VUS	1 lab	0848c575d2
16:30762640 PHKG2 C>T	16	30762640	30762640	C	T	PHKG2	c.271+38C>T	NM_000294.2	NP_000285.1:p.?	NC_000016.9:g.30762640C>T	(Likely) benign	1 lab	9481f674ee
15:44877977 SPG11 T>C	15	44877977	44877977	T	C	SPG11	c.4978A>G	NM_025137.3	NP_079413.3:p.(Ile1660Val)	NC_000015.9:g.44877977T>C	(Likely) benign	1 lab	9486ff46f4
5:136328259 SPOCK1 G>A	5	136328259	136328259	G	A	SPOCK1	c.620C>T	NM_004598.4	NP_004589.1:p.(Ala207Val)	NC_000005.9:g.136328259G>A	VUS	1 lab	084a6fed6b
5:138209404 CTNNA1 G>T	5	138209404	138209404	G	T	CTNNA1	c.1063-12497G>T	NM_001903.5	NP_001894.2:p.?	NC_000005.9:g.138209404G>T	(Likely) benign	1 lab	948b42aa86
17:78093090 GAA C>T	17	78093090	78093090	C	T	GAA	c.2819C>T	NM_000152.4	NP_000143.2:p.(Ser940Leu)	NC_000017.10:g.78093090C>T	VUS	1 lab	948c7a34f1
16:1259500 CACNA1H G>C	16	1259500	1259500	G	C	CACNA1H	c.3744+88G>C	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1259500G>C	(Likely) benign	1 lab	0e2e756647
1:237550579 RYR2 A>G	1	237550579	237550579	A	G	RYR2	c.577-2A>G	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237550579A>G	VUS	1 lab	948f8a6e05
3:121980529 CASR A>G	3	121980529	121980529	A	G	CASR	c.647A>G	NM_000388.4	NP_000379.3:p.(Asp216Gly)	NC_000003.11:g.121980529A>G	VUS	1 lab	948fda9800
13:108861348 LIG4 C>T	13	108861348	108861348	C	T	LIG4				NC_000013.10:g.108861348C>T	VUS	1 lab	948fed4b3f
22:29099493 CHEK2 A>C	22	29099493	29099493	A	C	CHEK2	c.908T>G	NM_007194.4	NP_009125.1:p.(Leu303Trp)	NC_000022.10:g.29099493A>C	VUS	1 lab	948ff7518f
1:237957300 RYR2 G>T	1	237957300	237957300	G	T	RYR2	c.13913+3G>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237957300G>T	(Likely) pathogenic	1 lab	9491012d50
15:42132725 PLA2G4B C>T	15	42132725	42132725	C	T	PLA2G4B	c.86C>T	NM_001114633.1	NP_001108105.1:p.(Thr29Ile)	NC_000015.9:g.42132725C>T	(Likely) benign	1 lab	1f3d41ffa0
16:23391507 SCNN1B C>T	16	23391507	23391507	C	T	SCNN1B	c.1542+17C>T	NM_000336.3	NP_000327.2:p.?	NC_000016.9:g.23391507C>T	(Likely) benign	1 lab	9492b38306
2:167298131 SCN7A G>A	2	167298131	167298131	G	A	SCN7A	c.1932C>T	NM_002976.3	NP_002967.2:p.(Phe644=)	NC_000002.11:g.167298131G>A	(Likely) benign	1 lab	94937ae821
7:82585867 PCLO TCTC>T	7	82585867	82585873	TCTC	T	PCLO	c.4399_4401del	NM_033026.6	NP_149015.2:p.(Glu1467del)	NC_000007.13:g.82585871_82585873del	VUS	1 lab	084ba73244
17:56056594 VEZF1 G>A	17	56056594	56056594	G	A	VEZF1	c.1057C>T	NM_007146.2	NP_009077.2:p.(Gln353Ter)	NC_000017.10:g.56056594G>A	VUS	1 lab	949c0e0829
15:72106395 NR2E3 A>G	15	72106395	72106395	A	G	NR2E3	c.1037A>G	NM_014249.2	NP_055064.1:p.(Gln346Arg)	NC_000015.9:g.72106395A>G	VUS	1 lab	949d67bc62
6:137167303 PEX7 T>G	6	137167303	137167303	T	G	PEX7	c.510T>G	NM_000288.4	NP_000279.1:p.(Cys170Trp)	NC_000006.11:g.137167303T>G	VUS	1 lab	084f697fb1
1:16270532 ZBTB17 G>A	1	16270532	16270532	G	A	ZBTB17	c.1372-142C>T	NM_001287603.1	NP_001274532.1:p.?	NC_000001.10:g.16270532G>A	(Likely) benign	1 lab	949faef40d
12:48390411 COL2A1 G>T	12	48390411	48390411	G	T	COL2A1	c.532-3C>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48390411G>T	VUS	1 lab	94a27a29ea
2:20153594 WDR35 CCT>C	2	20153594	20153596	CCT	C	WDR35	c.1399_1400del	NM_020779.4	NP_065830.2:p.(Arg467AsnfsTer5)	NC_000002.11:g.20153595_20153596del	(Likely) pathogenic	1 lab	0e341037f7
2:179430873 TTN AATGTATTTTCCAGC>A	2	179430873	179430889	AATGTATTTTCCAGC	A	TTN	c.79972_79985del	NM_001267550.2	NP_001254479.2:p.(Ala26658SerfsTer2)	NC_000002.11:g.179430876_179430889del	(Likely) pathogenic	1 lab	94a8bcb82a
12:110032933 MVK G>A	12	110032933	110032933	G	A	MVK	c.986G>A	NM_000431.2	NP_000422.1:p.(Ser329Asn)	NC_000012.11:g.110032933G>A	(Likely) pathogenic	1 lab	0e35f3fc1d
1:23370955 KDM1A G>A	1	23370955	23370955	G	A	KDM1A	c.553G>A	NM_001009999.3	NP_001009999.1:p.(Gly185Arg)	NC_000001.10:g.23370955G>A	VUS	1 lab	08505753cb
19:38954094 RYR1 G>A	19	38954094	38954094	G	A	RYR1	c.2609G>A	NM_000540.2	NP_000531.2:p.(Arg870Gln)	NC_000019.9:g.38954094G>A	VUS	1 lab	94abf2eb72
X:15349908 PIGA C>T	X	15349908	15349908	C	T	PIGA	c.145G>A	NM_002641.3	NP_002632.1:p.(Val49Met)	NC_000023.10:g.15349908C>T	VUS	1 lab	94ac3ba98d
1:196920178 CFHR2 C>T	1	196920178	196920178	C	T	CFHR2	c.430+20C>T	NM_005666.4	NP_005657.1:p.?	NC_000001.10:g.196920178C>T	(Likely) benign	1 lab	94af253566
19:42794719 CIC G>A	19	42794719	42794719	G	A	CIC	c.1799G>A	NM_015125.5	NP_055940.3:p.(Arg600His)	NC_000019.9:g.42794719G>A	(Likely) benign	1 lab	0855e57bc7
1:43395424 SLC2A1 TC>T	1	43395424	43395425	TC	T	SLC2A1	c.706del	NM_006516.4	NP_006507.2:p.(Asp236ThrfsTer2)	NC_000001.10:g.43395425del	(Likely) pathogenic	1 lab	94b3ba5ea5
15:67008779 SMAD6 TC>T	15	67008779	67008780	TC	T	SMAD6	c.896del	NM_005585.4	NP_005576.3:p.(Ser299PhefsTer240)	NC_000015.9:g.67008780del	VUS	1 lab	94b48a2da4
1:215853692 USH2A G>T	1	215853692	215853692	G	T	USH2A	c.12093C>A	NM_206933.2	NP_996816.2:p.(Tyr4031Ter)	NC_000001.10:g.215853692G>T	(Likely) pathogenic	1 lab	94b6fa01d5
11:76868443 MYO7A G>A	11	76868443	76868443	G	A	MYO7A	c.849+5G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76868443G>A	VUS	1 lab	94b94cfea9
X:114880432 PLS3 C>T	X	114880432	114880432	C	T	PLS3	c.1303C>T	NM_005032.7	NP_005023.2:p.(Arg435Ter)	NC_000023.10:g.114880432C>T	(Likely) pathogenic	1 lab	94bdaee447
2:167298021 SCN7A A>G	2	167298021	167298021	A	G	SCN7A	c.2042T>C	NM_002976.4	NP_002967.2:p.(Val681Ala)	NC_000002.11:g.167298021A>G	VUS	1 lab	94c1c93603
12:49427924 KMT2D A>G	12	49427924	49427924	A	G	KMT2D	c.10666T>C	NM_003482.4	NP_003473.3:p.(Phe3556Leu)	NC_000012.11:g.49427924A>G	VUS	1 lab	085820f75f
14:23887690 MYH7 C>T	14	23887690	23887690	C	T	MYH7	c.3973-75G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23887690C>T	(Likely) benign	1 lab	94c2d221af
19:42492226 ATP1A3 C>T	19	42492226	42492226	C	T	ATP1A3				NC_000019.9:g.42492226C>T	(Likely) benign	1 lab	94c48f5086
11:17579839 OTOG C>T	11	17579839	17579839	C	T	OTOG	c.1009C>T	NM_001277269.1	NP_001264198.1:p.(Gln337Ter)	NC_000011.9:g.17579839C>T	(Likely) pathogenic	1 lab	94cb599175
17:40469212 STAT3 A>G	17	40469212	40469212	A	G	STAT3	c.2132T>C	NM_139276.2	NP_644805.1:p.(Ile711Thr)	NC_000017.10:g.40469212A>G	(Likely) pathogenic	1 lab	94cb934dd0
16:89574166 SPG7 C>G	16	89574166	89574166	C	G	SPG7				NC_000016.9:g.89574166C>G	(Likely) benign	1 lab	085909a2ea
19:36042010 ATP4A A>T	19	36042010	36042010	A	T	ATP4A	c.2889T>A	NM_000704.3	NP_000695.2:p.(Asn963Lys)	NC_000019.9:g.36042010A>T	(Likely) pathogenic	1 lab	0e394efaa6
11:103049785 DYNC2H1 A>T	11	103049785	103049785	A	T	DYNC2H1	c.6170A>T	NM_001080463.1	NP_001073932.1:p.(Asp2057Val)	NC_000011.9:g.103049785A>T	VUS	1 lab	94cf0daed9
1:16270509 ZBTB17 C>T	1	16270509	16270509	C	T	ZBTB17	c.1372-119G>A	NM_001287603.1	NP_001274532.1:p.?	NC_000001.10:g.16270509C>T	(Likely) benign	1 lab	94d078c0c3
18:32335991 DTNA G>A	18	32335991	32335991	G	A	DTNA	c.51G>A	NM_001390.4	NP_001381.2:p.(Gln17=)	NC_000018.9:g.32335991G>A	(Likely) benign	1 lab	951f04467d
X:100653346 GLA A>ATTTTAAGATGG	X	100653346	100653347	A	ATTTTAAGATGG	GLA	c.999+11_999+12insCCATCTTAAAA	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653346_100653347insTTTTAAGATGG	(Likely) benign	1 lab	94d0abdfe5
1:97272437 PTBP2 T>G	1	97272437	97272437	T	G	PTBP2	c.1109T>G	NM_001300985.1	NP_001287914.1:p.(Val370Gly)	NC_000001.10:g.97272437T>G	VUS	1 lab	94d1439fff
2:109545803 EDAR G>A	2	109545803	109545803	G	A	EDAR	c.207C>T	NM_022336.4	NP_071731.1:p.(Tyr69=)	NC_000002.11:g.109545803G>A	(Likely) benign	1 lab	0e3b643a70
13:20632823 ZMYM2 C>T	13	20632823	20632823	C	T	ZMYM2	c.2602C>T	NM_197968.4	NP_932072.1:p.(Gln868Ter)	NC_000013.10:g.20632823C>T	(Likely) pathogenic	1 lab	94d4183155
20:33581943 MYH7B C>A	20	33581943	33581943	C	A	MYH7B	c.2571-6C>A	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33581943C>A	(Likely) benign	1 lab	94d6f5dc05
7:6042115 PMS2 C>T	7	6042115	6042115	C	T	PMS2	c.506G>A	NM_000535.7	NP_000526.2:p.(Arg169His)	NC_000007.13:g.6042115C>T	(Likely) pathogenic	1 lab	94d79e50de
22:36705386 MYH9 T>C	22	36705386	36705386	T	C	MYH9	c.1784A>G	NM_002473.5	NP_002464.1:p.(Asn595Ser)	NC_000022.10:g.36705386T>C	VUS	1 lab	94d9131098
6:126080936 HEY2 T>C	6	126080936	126080936	T	C	HEY2	c.1002T>C	NM_012259.2	NP_036391.1:p.(Val334=)	NC_000006.11:g.126080936T>C	(Likely) benign	1 lab	94dfc5853b
1:152284858 FLG T>G	1	152284858	152284858	T	G	FLG	c.2504A>C	NM_002016.2	NP_002007.1:p.(Gln835Pro)	NC_000001.10:g.152284858T>G	VUS	1 lab	085fa64b85
16:3823756 CREBBP G>T	16	3823756	3823756	G	T	CREBBP	c.2459C>A	NM_004380.3	NP_004371.2:p.(Ser820Ter)	NC_000016.9:g.3823756G>T	(Likely) pathogenic	1 lab	94e4db6e6c
11:76925691 MYO7A C>T	11	76925691	76925691	C	T	MYO7A	c.6598C>T	NM_000260.3	NP_000251.3:p.(Gln2200Ter)	NC_000011.9:g.76925691C>T	(Likely) pathogenic	1 lab	94e5b92c4c
16:50756733 NOD2 G>A	16	50756733	50756733	G	A	NOD2	c.2798+117G>A	NM_022162.2	NP_071445.1:p.?	NC_000016.9:g.50756733G>A	(Likely) benign	1 lab	94e95df66a
16:2154640 MISSING G>A	16	2154640	2154640	G	A	MISSING				NC_000016.9:g.2154640G>A	(Likely) benign	1 lab	94eda685ce
6:30690736 TUBB C>T	6	30690736	30690736	C	T	TUBB	c.208C>T	NM_178014.4	NP_821133.1:p.(Pro70Ser)	NC_000006.11:g.30690736C>T	(Likely) pathogenic	1 lab	94ee77f4d9
16:2149776 PKD1 G>C	16	2149776	2149776	G	C	PKD1	c.9924-5C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2149776G>C	(Likely) pathogenic	1 lab	0862b9695c
1:16269618 ZBTB17 A>G	1	16269618	16269618	A	G	ZBTB17	c.1769T>C	NM_003443.2	NP_003434.2:p.(Val590Ala)	NC_000001.10:g.16269618A>G	(Likely) benign	1 lab	94f2397e64
11:47359255 MYBPC3 C>A	11	47359255	47359255	C	A	MYBPC3	c.2399G>T	NM_000256.3	NP_000247.2:p.(Gly800Val)	NC_000011.9:g.47359255C>A	VUS	1 lab	086b5a891a
X:154774921 TMLHE A>AATC	X	154774921	154774924	A	AATC	TMLHE	c.14_16dup	NM_018196.4	NP_060666.1:p.(Leu6Ter)	NC_000023.10:g.154774922_154774924dup	(Likely) pathogenic	1 lab	94f4fa17f4
2:179395322 TTN AC>A	2	179395322	179395324	AC	A	TTN	c.106019del	NM_001267550.2	NP_001254479.2:p.(Gly35340ValfsTer65)	NC_000002.11:g.179395324del	(Likely) pathogenic	1 lab	94f535b5d9
17:48703879 CACNA1G C>T	17	48703879	48703879	C	T	CACNA1G	c.6901C>T	NM_018896.5	NP_061496.2:p.(Arg2301Trp)	NC_000017.10:g.48703879C>T	VUS	1 lab	086baad72f
21:45712979 AIRE C>T	21	45712979	45712979	C	T	AIRE				NC_000021.8:g.45712979C>T	(Likely) benign	1 lab	1f3dbb0ba8
9:131351178 SPTAN1 A>G	9	131351178	131351178	A	G	SPTAN1	c.2962A>G	NM_001130438.2	NP_001123910.1:p.(Met988Val)	NC_000009.11:g.131351178A>G	VUS	1 lab	94f8a57c39
10:90701015 ACTA2 G>T	10	90701015	90701015	G	T	ACTA2	c.587C>A	NM_001141945.2	NP_001135417.1:p.(Thr196Asn)	NC_000010.10:g.90701015G>T	(Likely) pathogenic	1 lab	95026da599
X:53575991 HUWE1 C>T	X	53575991	53575991	C	T	HUWE1	c.9964G>A	NM_031407.6	NP_113584.3:p.(Val3322Ile)	NC_000023.10:g.53575991C>T	VUS	1 lab	95195389f5
3:38604009 SCN5A A>G	3	38604009	38604009	A	G	SCN5A	c.3860T>C	NM_198056.2	NP_932173.1:p.(Val1287Ala)	NC_000003.11:g.38604009A>G	(Likely) benign	1 lab	95034e5d84
X:17746097 NHS C>T	X	17746097	17746097	C	T	NHS	c.3808C>T	NM_198270.4	NP_938011.1:p.(Gln1270Ter)	NC_000023.10:g.17746097C>T	(Likely) pathogenic	1 lab	95057bfd4a
16:4751547 ANKS3 G>A	16	4751547	4751547	G	A	ANKS3	c.1010-3C>T	NM_133450.4	NP_597707.1:p.?	NC_000016.9:g.4751547G>A	(Likely) benign	1 lab	0870c8c932
10:69926172 MYPN C>A	10	69926172	69926172	C	A	MYPN	c.1722C>A	NM_032578.3	NP_115967.2:p.(Pro574=)	NC_000010.10:g.69926172C>A	(Likely) benign	1 lab	0e431a9fe2
3:190106163 CLDN16 C>G	3	190106163	190106163	C	G	CLDN16	c.255C>G	NM_006580.3	NP_006571.1:p.(Phe85Leu)	NC_000003.11:g.190106163C>G	(Likely) benign	1 lab	0e46e1d747
10:112404351 RBM20 CCG>C	10	112404351	112404354	CCG	C	RBM20	c.141_142del	NM_001134363.2	NP_001127835.2:p.(Gln49AlafsTer29)	NC_000010.10:g.112404353_112404354del	VUS	1 lab	950e9f6731
2:32362002 SPAST C>A	2	32362002	32362002	C	A	SPAST	c.1378C>A	NM_014946.4	NP_055761.2:p.(Arg460Ser)	NC_000002.11:g.32362002C>A	(Likely) pathogenic	1 lab	951045531f
9:2039480 SMARCA2 C>T	9	2039480	2039480	C	T	SMARCA2				NC_000009.11:g.2039480C>T	VUS	1 lab	95105d2203
7:6042279 PMS2 T>A	7	6042279	6042279	T	A	PMS2	c.354-12A>T	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6042279T>A	(Likely) benign	1 lab	9510f8eb9c
6:157099176 ARID1B C>T	6	157099176	157099176	C	T	ARID1B	c.362C>T	NM_001371656.1	NP_001358585.1:p.(Ser121Phe)	NC_000006.11:g.157099176C>T	VUS	1 lab	08736bd7a8
5:171849461 SH3PXD2B C>A	5	171849461	171849461	C	A	SH3PXD2B	c.115G>T	NM_001017995.2	NP_001017995.1:p.(Glu39Ter)	NC_000005.9:g.171849461C>A	(Likely) pathogenic	1 lab	9515552147
19:10828959 DNM2 A>G	19	10828959	10828959	A	G	DNM2	c.41A>G	NM_001005361.2	NP_001005361.1:p.(Asn14Ser)	NC_000019.9:g.10828959A>G	VUS	1 lab	9515688a7f
2:179433085 TTN T>G	2	179433085	179433085	T	G	TTN	c.77774A>C	NM_001267550.2	NP_001254479.2:p.(Asn25925Thr)	NC_000002.11:g.179433085T>G	VUS	1 lab	9519255c98
7:153750071 DPP6 CGCGGCGGCG>C	7	153750071	153750092	CGCGGCGGCG	C	DPP6				NC_000007.13:g.153750084_153750092del	(Likely) benign	1 lab	95193f9094
10:89268270 MINPP1 C>T	10	89268270	89268270	C	T	MINPP1	c.815C>T	NM_004897.5	NP_004888.2:p.(Pro272Leu)	NC_000010.10:g.89268270C>T	VUS	1 lab	0873c64727
20:57484780 GNAS A>T	20	57484780	57484780	A	T	GNAS	c.760A>T	NM_000516.7	NP_000507.1:p.(Asn254Tyr)	NC_000020.10:g.57484780A>T	(Likely) pathogenic	1 lab	951e48899c
6:137143922 PEX7 A>G	6	137143922	137143922	A	G	PEX7	c.119A>G	NM_000288.4	NP_000279.1:p.(Tyr40Cys)	NC_000006.11:g.137143922A>G	(Likely) pathogenic	1 lab	0874554c4f
2:105984066 FHL2 A>C	2	105984066	105984066	A	C	FHL2	c.462T>G	NM_201555.1	NP_963849.1:p.(Tyr154Ter)	NC_000002.11:g.105984066A>C	VUS	1 lab	951f5f1234
X:18602474 CDKL5 G>A	X	18602474	18602474	G	A	CDKL5	c.554+1G>A	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18602474G>A	(Likely) pathogenic	1 lab	9520791a23
12:111758426 CUX2 C>A	12	111758426	111758426	C	A	CUX2	c.2613C>A	NM_015267.4	NP_056082.2:p.(Tyr871Ter)	NC_000012.11:g.111758426C>A	VUS	1 lab	95250ec1e7
11:2905209 CDKN1C C>A	11	2905209	2905209	C	A	CDKN1C	c.*5+20G>T	NM_001122630.2	NP_001116102.1:p.?	NC_000011.9:g.2905209C>A	(Likely) pathogenic	1 lab	9526d36344
20:18526682 SEC23B G>A	20	18526682	18526682	G	A	SEC23B	c.1743+5G>A	NM_006363.6	NP_006354.2:p.?	NC_000020.10:g.18526682G>A	VUS	1 lab	1502be761d
7:24745804 GSDME T>G	7	24745804	24745804	T	G	GSDME	c.1182A>C	NM_004403.3	NP_004394.1:p.(Ala394=)	NC_000007.13:g.24745804T>G	VUS	1 lab	95285a00cc
15:93536197 CHD2 C>T	15	93536197	93536197	C	T	CHD2	c.3564C>T	NM_001271.3	NP_001262.3:p.(Tyr1188=)	NC_000015.9:g.93536197C>T	(Likely) benign	1 lab	952a202bbe
16:2141927 PKD1 T>A	16	2141927	2141927	T	A	PKD1	c.11412-20A>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2141927T>A	(Likely) benign	1 lab	952cd3fc05
18:31326254 ASXL3 C>T	18	31326254	31326254	C	T	ASXL3	c.6442C>T	NM_030632.1	NP_085135.1:p.(Gln2148Ter)	NC_000018.9:g.31326254C>T	(Likely) pathogenic	1 lab	953101e298
5:14368974 TRIO A>G	5	14368974	14368974	A	G	TRIO	c.3032A>G	NM_007118.4	NP_009049.2:p.(Asn1011Ser)	NC_000005.9:g.14368974A>G	VUS	1 lab	9534e630fa
17:41277416 BRCA1 C>G	17	41277416	41277416	C	G	BRCA1				NC_000017.10:g.41277416C>G	(Likely) benign	1 lab	95896685f2
X:69522158 KIF4A A>G	X	69522158	69522158	A	G	KIF4A	c.688A>G	NM_012310.4	NP_036442.3:p.(Ser230Gly)	NC_000023.10:g.69522158A>G	VUS	1 lab	9539f86b68
5:112177965 APC C>G	5	112177965	112177965	C	G	APC	c.6674C>G	NM_000038.6	NP_000029.2:p.(Ser2225Cys)	NC_000005.9:g.112177965C>G	VUS	1 lab	953a2cf68a
X:107821605 COL4A5 G>T	X	107821605	107821605	G	T	COL4A5	c.772G>T	NM_000495.4	NP_000486.1:p.(Gly258Ter)	NC_000023.10:g.107821605G>T	(Likely) pathogenic	1 lab	953b9790fc
19:38979834 RYR1 C>T	19	38979834	38979834	C	T	RYR1	c.5565C>T	NM_000540.2	NP_000531.2:p.(Gly1855=)	NC_000019.9:g.38979834C>T	(Likely) benign	1 lab	0e47dbdf50
21:43906573 RSPH1 T>G	21	43906573	43906573	T	G	RSPH1	c.275-2A>C	NM_080860.4	NP_543136.1:p.?	NC_000021.8:g.43906573T>G	(Likely) pathogenic	1 lab	087c392a4b
2:227945181 COL4A4 T>C	2	227945181	227945181	T	C	COL4A4	c.1781A>G	NM_000092.4	NP_000083.3:p.(Glu594Gly)	NC_000002.11:g.227945181T>C	(Likely) benign	1 lab	95431ad3ec
1:43201534 CLDN19 G>A	1	43201534	43201534	G	A	CLDN19	c.626+15C>T	NM_148960.2	NP_683763.2:p.?	NC_000001.10:g.43201534G>A	(Likely) benign	1 lab	95433fc47e
9:140058246 GRIN1 G>A	9	140058246	140058246	G	A	GRIN1	c.2479G>A	NM_007327.3	NP_015566.1:p.(Gly827Arg)	NC_000009.11:g.140058246G>A	(Likely) pathogenic	1 lab	9544aacd46
2:32372285 SPAST A>G	2	32372285	32372285	A	G	SPAST	c.1688-2A>G	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32372285A>G	(Likely) pathogenic	1 lab	9544d732a0
9:117797524 TNC C>T	9	117797524	117797524	C	T	TNC	c.5746G>A	NM_002160.3	NP_002151.2:p.(Gly1916Ser)	NC_000009.11:g.117797524C>T	VUS	1 lab	9545603225
9:98224275 PTCH1 G>A	9	98224275	98224275	G	A	PTCH1	c.2566C>T	NM_000264.5	NP_000255.2:p.(Gln856Ter)	NC_000009.11:g.98224275G>A	(Likely) pathogenic	1 lab	087c82c109
1:2237542 SKI G>A	1	2237542	2237542	G	A	SKI	c.1851G>A	NM_003036.3	NP_003027.1:p.(Glu617=)	NC_000001.10:g.2237542G>A	(Likely) benign	1 lab	9547b0794d
5:145719708 POU4F3 A>G	5	145719708	145719708	A	G	POU4F3	c.718A>G	NM_002700.2	NP_002691.1:p.(Asn240Asp)	NC_000005.9:g.145719708A>G	(Likely) pathogenic	1 lab	9548e06819
17:62036638 SCN4A C>T	17	62036638	62036638	C	T	SCN4A	c.2006G>A	NM_000334.4	NP_000325.4:p.(Arg669His)	NC_000017.10:g.62036638C>T	(Likely) pathogenic	1 lab	954afd05ef
14:23884414 MYH7 C>A	14	23884414	23884414	C	A	MYH7	c.5349G>T	NM_000257.4	NP_000248.2:p.(Lys1783Asn)	NC_000014.8:g.23884414C>A	VUS	1 lab	159fc13ca1
16:89341367 ANKRD11 T>G	16	89341367	89341367	T	G	ANKRD11	c.7570-2A>C	NM_001256182.1	NP_001243111.1:p.?	NC_000016.9:g.89341367T>G	(Likely) pathogenic	1 lab	954dc75741
9:139413171 NOTCH1 A>T	9	139413171	139413171	A	T	NOTCH1	c.971T>A	NM_017617.3	NP_060087.3:p.(Val324Asp)	NC_000009.11:g.139413171A>T	(Likely) pathogenic	1 lab	954ed60df8
6:162206942 PRKN T>C	6	162206942	162206942	T	C	PRKN	c.735-2A>G	NM_004562.3	NP_004553.2:p.?	NC_000006.11:g.162206942T>C	(Likely) pathogenic	1 lab	08847c6b0d
1:98039541 DPYD A>G	1	98039541	98039541	A	G	DPYD	c.1129-15T>C	NM_000110.4	NP_000101.2:p.?	NC_000001.10:g.98039541A>G	(Likely) benign	1 lab	0885265655
11:123509024 SCN3B C>G	11	123509024	123509024	C	G	SCN3B	c.454G>C	NM_018400.3	NP_060870.1:p.(Asp152His)	NC_000011.9:g.123509024C>G	VUS	1 lab	9551e2d9ac
20:62120451 EEF1A2 C>G	20	62120451	62120451	C	G	EEF1A2				NC_000020.10:g.62120451C>G	VUS	1 lab	955266fb49
17:79477992 ACTG1 C>G	17	79477992	79477992	C	G	ACTG1	c.945G>C	NM_001614.3	NP_001605.1:p.(Lys315Asn)	NC_000017.10:g.79477992C>G	(Likely) benign	1 lab	9554a6c013
1:11317099 MTOR C>T	1	11317099	11317099	C	T	MTOR	c.395G>A	NM_004958.4	NP_004949.1:p.(Arg132His)	NC_000001.10:g.11317099C>T	(Likely) benign	1 lab	0885baa145
2:179584078 TTN C>T	2	179584078	179584078	C	T	TTN	c.24039G>A	NM_001267550.2	NP_001254479.2:p.(Pro8013=)	NC_000002.11:g.179584078C>T	(Likely) benign	1 lab	95570e0508
8:61773577 CHD7 G>T	8	61773577	61773577	G	T	CHD7				NC_000008.10:g.61773577G>T	(Likely) pathogenic	1 lab	955eab4b39
X:48385385 EBP T>A	X	48385385	48385385	T	A	EBP	c.310T>A	NM_006579.3	NP_006570.1:p.(Tyr104Asn)	NC_000023.10:g.48385385T>A	(Likely) pathogenic	1 lab	088ae2150b
1:3334477 PRDM16 C>T	1	3334477	3334477	C	T	PRDM16	c.2777C>T	NM_022114.3	NP_071397.3:p.(Pro926Leu)	NC_000001.10:g.3334477C>T	(Likely) benign	1 lab	9563ad10e9
5:112174851 APC T>C	5	112174851	112174851	T	C	APC	c.3560T>C	NM_000038.6	NP_000029.2:p.(Ile1187Thr)	NC_000005.9:g.112174851T>C	VUS	1 lab	95663bd14a
10:75871695 VCL T>C	10	75871695	75871695	T	C	VCL	c.2774T>C	NM_014000.3	NP_054706.1:p.(Ile925Thr)	NC_000010.10:g.75871695T>C	VUS	1 lab	088db881af
11:66481562 SPTBN2 C>T	11	66481562	66481562	C	T	SPTBN2	c.656G>A	NM_006946.2	NP_008877.1:p.(Arg219Gln)	NC_000011.9:g.66481562C>T	VUS	1 lab	95676d5ba7
9:130422343 STXBP1 C>T	9	130422343	130422343	C	T	STXBP1	c.281C>T	NM_003165.6	NP_003156.1:p.(Pro94Leu)	NC_000009.11:g.130422343C>T	(Likely) benign	1 lab	0892b26fbd
2:47703731 MSH2 C>G	2	47703731	47703731	C	G	MSH2	c.2210+21C>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47703731C>G	(Likely) benign	1 lab	95701d379c
2:228148545 COL4A3 G>A	2	228148545	228148545	G	A	COL4A3	c.2719G>A	NM_000091.5	NP_000082.2:p.(Gly907Arg)	NC_000002.11:g.228148545G>A	(Likely) pathogenic	1 lab	9570f5953f
5:112173968 APC G>T	5	112173968	112173968	G	T	APC	c.2677G>T	NM_000038.6	NP_000029.2:p.(Glu893Ter)	NC_000005.9:g.112173968G>T	(Likely) pathogenic	1 lab	95715e9205
7:91632023 AKAP9 G>A	7	91632023	91632023	G	A	AKAP9	c.2792G>A	NM_005751.4	NP_005742.4:p.(Gly931Asp)	NC_000007.13:g.91632023G>A	(Likely) benign	1 lab	9578c5ca2c
3:41275190 CTNNB1 T>TA	3	41275190	41275191	T	TA	CTNNB1	c.1356_1357insA	NM_001904.4	NP_001895.1:p.(Arg453ThrfsTer4)	NC_000003.11:g.41275190_41275191insA	(Likely) pathogenic	1 lab	957b25ef10
10:126370934 FAM53B G>A	10	126370934	126370934	G	A	FAM53B	c.148C>T	NM_014661.3	NP_055476.3:p.(Arg50Ter)	NC_000010.10:g.126370934G>A	VUS	1 lab	957c4e8249
7:83610726 SEMA3A C>G	7	83610726	83610726	C	G	SEMA3A	c.1563G>C	NM_006080.2	NP_006071.1:p.(Gly521=)	NC_000007.13:g.83610726C>G	(Likely) benign	1 lab	957c598939
11:76919562 MYO7A G>A	11	76919562	76919562	G	A	MYO7A	c.5944G>A	NM_000260.3	NP_000251.3:p.(Gly1982Arg)	NC_000011.9:g.76919562G>A	(Likely) pathogenic	1 lab	957ee66d8b
15:68617539 ITGA11 T>C	15	68617539	68617539	T	C	ITGA11	c.2252A>G	NM_001004439.1	NP_001004439.1:p.(Glu751Gly)	NC_000015.9:g.68617539T>C	VUS	1 lab	95833a9daf
19:18980040 GDF1 C>T	19	18980040	18980040	C	T	GDF1	c.485G>A	NM_001492.5	NP_001483.3:p.(Gly162Asp)	NC_000019.9:g.18980040C>T	(Likely) benign	1 lab	958553ddfb
11:108235948 ATM G>A	11	108235948	108235948	G	A	ATM	c.8987+3G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108235948G>A	(Likely) benign	1 lab	9585fea9a7
20:50408611 SALL4 G>C	20	50408611	50408611	G	C	SALL4	c.411C>G	NM_020436.5	NP_065169.1:p.(Gly137=)	NC_000020.10:g.50408611G>C	(Likely) benign	1 lab	089c853a47
18:3151799 MYOM1 G>A	18	3151799	3151799	G	A	MYOM1	c.1736C>T	NM_003803.3	NP_003794.3:p.(Ser579Phe)	NC_000018.9:g.3151799G>A	(Likely) benign	1 lab	95898de5a0
11:118377325 KMT2A C>T	11	118377325	118377325	C	T	KMT2A	c.10718C>T	NM_001197104.1	NP_001184033.1:p.(Pro3573Leu)	NC_000011.9:g.118377325C>T	VUS	1 lab	958af3f24b
1:23403721 KDM1A G>T	1	23403721	23403721	G	T	KDM1A	c.1735G>T	NM_001009999.3	NP_001009999.1:p.(Asp579Tyr)	NC_000001.10:g.23403721G>T	(Likely) pathogenic	1 lab	958b576934
8:61765937 CHD7 T>C	8	61765937	61765937	T	C	CHD7	c.6653T>C	NM_017780.3	NP_060250.2:p.(Leu2218Pro)	NC_000008.10:g.61765937T>C	(Likely) benign	1 lab	958e1f2caf
5:38490385 LIFR G>A	5	38490385	38490385	G	A	LIFR	c.2074C>T	NM_001127671.1	NP_001121143.1:p.(Arg692Ter)	NC_000005.9:g.38490385G>A	(Likely) pathogenic	1 lab	958e30c81d
20:61389669 NTSR1 G>A	20	61389669	61389669	G	A	NTSR1	c.968G>A	NM_002531.2	NP_002522.2:p.(Arg323His)	NC_000020.10:g.61389669G>A	VUS	1 lab	95940db129
3:193311159 OPA1 C>T	3	193311159	193311159	C	T	OPA1	c.-8C>T	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193311159C>T	VUS	1 lab	aaf37d9f1c
7:44282920 CAMK2B G>A	7	44282920	44282920	G	A	CAMK2B	c.530C>T	NM_001220.5	NP_001211.3:p.(Thr177Ile)	NC_000007.13:g.44282920G>A	VUS	1 lab	089ddccee2
22:19744242 TBX1 G>A	22	19744242	19744242	G	A	TBX1	c.-113G>A	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19744242G>A	(Likely) benign	1 lab	959efbb28b
12:6134949 VWF C>T	12	6134949	6134949	C	T	VWF	c.3109-90G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6134949C>T	(Likely) benign	1 lab	959fd4a84f
8:68152459 ARFGEF1 C>G	8	68152459	68152459	C	G	ARFGEF1	c.2917G>C	NM_006421.5	NP_006412.2:p.(Ala973Pro)	NC_000008.10:g.68152459C>G	VUS	1 lab	089e8651ab
13:23911946 SACS G>A	13	23911946	23911946	G	A	SACS	c.6069C>T	NM_014363.5	NP_055178.3:p.(Asn2023=)	NC_000013.10:g.23911946G>A	(Likely) benign	1 lab	95a3a972f0
14:23902462 MYH7 C>T	14	23902462	23902462	C	T	MYH7	c.202-26G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23902462C>T	(Likely) benign	1 lab	95a533d18a
3:37042539 MLH1 G>T	3	37042539	37042539	G	T	MLH1	c.301G>T	NM_000249.3	NP_000240.1:p.(Gly101Cys)	NC_000003.11:g.37042539G>T	VUS	1 lab	95a703c0c2
4:155505857 FGA AAAGCCATCCTCCC>A	4	155505857	155505872	AAAGCCATCCTCCC	A	FGA	c.2007_2019del	NM_000508.3	NP_000499.1:p.(Leu669PhefsTer2)	NC_000004.11:g.155505860_155505872del	VUS	1 lab	95a938bd34
17:62020348 SCN4A T>C	17	62020348	62020348	T	C	SCN4A	c.4126A>G	NM_000334.4	NP_000325.4:p.(Asn1376Asp)	NC_000017.10:g.62020348T>C	(Likely) benign	1 lab	95aa3f9d77
12:112915526 PTPN11 A>G	12	112915526	112915526	A	G	PTPN11	c.925A>G	NM_002834.3	NP_002825.3:p.(Ile309Val)	NC_000012.11:g.112915526A>G	VUS	1 lab	95aa57c217
1:228556545 OBSCN C>T	1	228556545	228556545	C	T	OBSCN	c.22761C>T	NM_001271223.2	NP_001258152.2:p.(Val7587=)	NC_000001.10:g.228556545C>T	(Likely) benign	1 lab	95acc3c02e
2:86075167 ST3GAL5 G>T	2	86075167	86075167	G	T	ST3GAL5	c.479C>A	NM_003896.3	NP_003887.3:p.(Pro160His)	NC_000002.11:g.86075167G>T	VUS	1 lab	95b0335d5f
X:80064768 BRWD3 C>G	X	80064768	80064768	C	G	BRWD3	c.67G>C	NM_153252.4	NP_694984.4:p.(Gly23Arg)	NC_000023.10:g.80064768C>G	VUS	1 lab	95b27bfa2e
2:179571629 TTN G>C	2	179571629	179571629	G	C	TTN	c.29094C>G	NM_001267550.2	NP_001254479.2:p.(Leu9698=)	NC_000002.11:g.179571629G>C	(Likely) benign	1 lab	95b3158b95
X:53631722 MISSING G>A	X	53631722	53631722	G	A	MISSING				NC_000023.10:g.53631722G>A	(Likely) benign	1 lab	95b42db1a0
X:70517314 NONO AACTTTTCTCGAAC>A	X	70517314	70517333	AACTTTTCTCGAAC	A	NONO	c.1028+10_1028+22del	NM_001145408.2	NP_001138880.1:p.?	NC_000023.10:g.70517321_70517333del	(Likely) benign	1 lab	08a8acc023
16:9858774 GRIN2A A>G	16	9858774	9858774	A	G	GRIN2A				NC_000016.9:g.9858774A>G	VUS	1 lab	95be8d277e
2:209167056 PIKFYVE T>G	2	209167056	209167056	T	G	PIKFYVE	c.1299T>G	NM_015040.3	NP_055855.2:p.(Tyr433Ter)	NC_000002.11:g.209167056T>G	VUS	1 lab	95c420b123
12:49420853 KMT2D G>A	12	49420853	49420853	G	A	KMT2D	c.14896C>T	NM_003482.4	NP_003473.3:p.(Arg4966Trp)	NC_000012.11:g.49420853G>A	VUS	1 lab	08aa6ed372
17:33443895 RAD51D A>G	17	33443895	33443895	A	G	RAD51D	c.263+1625T>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443895A>G	(Likely) benign	1 lab	95c51c41f4
18:55364830 ATP8B1 G>A	18	55364830	55364830	G	A	ATP8B1	c.698+20C>T	NM_005603.4	NP_005594.1:p.?	NC_000018.9:g.55364830G>A	(Likely) benign	1 lab	95f0cd020a
1:9775776 PIK3CD G>A	1	9775776	9775776	G	A	PIK3CD	c.319G>A	NM_005026.5	NP_005017.3:p.(Asp107Asn)	NC_000001.10:g.9775776G>A	VUS	1 lab	08ab71889b
7:44323801 CAMK2B C>T	7	44323801	44323801	C	T	CAMK2B	c.89G>A	NM_001220.4	NP_001211.3:p.(Arg30His)	NC_000007.13:g.44323801C>T	VUS	1 lab	95c94e6d5b
22:40814486 MRTFA C>G	22	40814486	40814486	C	G	MRTFA	c.2256G>C	NM_001282662.3	NP_001269591.2:p.(Gly752=)	NC_000022.10:g.40814486C>G	(Likely) benign	1 lab	0e480880bf
11:108214053 ATM C>A	11	108214053	108214053	C	A	ATM	c.8373C>A	NM_000051.3	NP_000042.3:p.(Tyr2791Ter)	NC_000011.9:g.108214053C>A	(Likely) pathogenic	1 lab	95c9e01828
1:200971427 KIF21B G>A	1	200971427	200971427	G	A	KIF21B	c.1264C>T	NM_017596.3	NP_060066.2:p.(Arg422Ter)	NC_000001.10:g.200971427G>A	VUS	1 lab	95d12c9d3c
9:14179753 NFIB GGCTTGGACTTCCTGATT>G	9	14179753	14179771	GGCTTGGACTTCCTGATT	G	NFIB	c.572_588del	NM_001190737.2	NP_001177666.1:p.(Gln191ProfsTer3)	NC_000009.11:g.14179755_14179771del	(Likely) pathogenic	1 lab	95d3abe6db
8:72229918 EYA1 A>T	8	72229918	72229918	A	T	EYA1	c.425T>A	NM_000503.6	NP_000494.2:p.(Leu142Ter)	NC_000008.10:g.72229918A>T	(Likely) pathogenic	1 lab	95d47d7231
2:47693848 MSH2 ATTAC>A	2	47693848	47693854	ATTAC	A	MSH2	c.1565_1568del	NM_000251.3	NP_000242.1:p.(Tyr522PhefsTer3)	NC_000002.11:g.47693851_47693854del	(Likely) pathogenic	1 lab	95d97cf48b
3:48682550 CELSR3 C>T	3	48682550	48682550	C	T	CELSR3	c.7890G>A	NM_001407.2	NP_001398.2:p.(Met2630Ile)	NC_000003.11:g.48682550C>T	(Likely) benign	1 lab	95d9e0de3e
10:89711995 PTEN A>G	10	89711995	89711995	A	G	PTEN	c.613A>G	NM_000314.8	NP_000305.3:p.(Met205Val)	NC_000010.10:g.89711995A>G	VUS	1 lab	95df160f88
1:78390870 NEXN T>G	1	78390870	78390870	T	G	NEXN	c.448-3T>G	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78390870T>G	VUS	1 lab	95dfce8838
16:31477460 ARMC5 G>A	16	31477460	31477460	G	A	ARMC5	c.2058G>A	NM_001105247.1	NP_001098717.1:p.(Ala686=)	NC_000016.9:g.31477460G>A	(Likely) benign	1 lab	95e07ce4ac
17:41209078 BRCA1 C>CG	17	41209078	41209079	C	CG	BRCA1	c.5330_5331insC	NM_007300.4	NP_009231.2:p.(Gln1777HisfsTer74)	NC_000017.10:g.41209078_41209079insG	VUS	1 lab	0e48ad23e4
22:41536259 EP300 C>T	22	41536259	41536259	C	T	EP300	c.1876C>T	NM_001429.3	NP_001420.2:p.(Arg626Ter)	NC_000022.10:g.41536259C>T	(Likely) pathogenic	1 lab	95ed11b530
15:85402497 ALPK3 C>T	15	85402497	85402497	C	T	ALPK3	c.4447C>T	NM_020778.4	NP_065829.3:p.(Arg1483Trp)	NC_000015.9:g.85402497C>T	VUS	1 lab	95ed22ab7b
13:32893468 BRCA2 T>C	13	32893468	32893468	T	C	BRCA2	c.316+6T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893468T>C	(Likely) benign	1 lab	95f3d75a0b
3:190122568 CLDN16 C>T	3	190122568	190122568	C	T	CLDN16	c.445C>T	NM_006580.3	NP_006571.1:p.(Arg149Ter)	NC_000003.11:g.190122568C>T	(Likely) pathogenic	1 lab	95f53dd244
11:792579 SLC25A22 G>A	11	792579	792579	G	A	SLC25A22	c.561C>T	NM_024698.5	NP_078974.1:p.(Tyr187=)	NC_000011.9:g.792579G>A	(Likely) benign	1 lab	95f6eece1d
12:110013910 MVK G>A	12	110013910	110013910	G	A	MVK	c.186G>A	NM_000431.2	NP_000422.1:p.(Trp62Ter)	NC_000012.11:g.110013910G>A	(Likely) pathogenic	1 lab	1f3ddc6b01
11:95564259 CEP57 A>G	11	95564259	95564259	A	G	CEP57	c.1315A>G	NM_001243776.2	NP_001230705.1:p.(Arg439Gly)	NC_000011.9:g.95564259A>G	(Likely) benign	1 lab	08acad0e33
18:28968959 DSG4 C>T	18	28968959	28968959	C	T	DSG4	c.495C>T	NM_001134453.3	NP_001127925.1:p.(Ser165=)	NC_000018.9:g.28968959C>T	(Likely) benign	1 lab	08b1ed4f95
5:112174915 APC C>T	5	112174915	112174915	C	T	APC	c.3624C>T	NM_000038.5	NP_000029.2:p.(Thr1208=)	NC_000005.9:g.112174915C>T	(Likely) benign	1 lab	95f98ffb75
17:7123473 ACADVL G>A	17	7123473	7123473	G	A	ACADVL	c.164G>A	NM_001270447.1	NP_001257376.1:p.(Arg55Gln)	NC_000017.10:g.7123473G>A	(Likely) benign	1 lab	9601550409
20:2845849 VPS16 T>AG	20	2845849	2845849	T	AG	VPS16	c.2060delinsAG	NM_022575.3	NP_072097.2:p.(Leu687GlnfsTer12)	NC_000020.10:g.2845849delinsAG	(Likely) pathogenic	1 lab	9604d8c66c
2:216229692 FN1 A>G	2	216229692	216229692	A	G	FN1	c.7161T>C	NM_212482.1	NP_997647.1:p.(Tyr2387=)	NC_000002.11:g.216229692A>G	(Likely) benign	1 lab	9605a92752
11:108205612 ATM T>G	11	108205612	108205612	T	G	ATM	c.8011-84T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205612T>G	(Likely) benign	1 lab	9605c22eea
11:121000537 TECTA A>G	11	121000537	121000537	A	G	TECTA				NC_000011.9:g.121000537A>G	VUS	1 lab	9605cb41f6
X:18665332 CDKL5 C>T	X	18665332	18665332	C	T	CDKL5				NC_000023.10:g.18665332C>T	(Likely) pathogenic	1 lab	960667f854
19:11310206 DOCK6 C>A	19	11310206	11310206	C	A	DOCK6	c.6111G>T	NM_020812.4	NP_065863.2:p.(Leu2037Phe)	NC_000019.9:g.11310206C>A	VUS	1 lab	08b2b0b816
5:112175897 APC G>T	5	112175897	112175897	G	T	APC	c.4606G>T	NM_000038.5	NP_000029.2:p.(Glu1536Ter)	NC_000005.9:g.112175897G>T	(Likely) pathogenic	1 lab	96129c2f0b
8:61749401 CHD7 C>T	8	61749401	61749401	C	T	CHD7				NC_000008.10:g.61749401C>T	(Likely) pathogenic	1 lab	aba2960213
14:23892878 MYH7 T>C	14	23892878	23892878	T	C	MYH7	c.2977A>G	NM_000257.4	NP_000248.2:p.(Thr993Ala)	NC_000014.8:g.23892878T>C	VUS	1 lab	9613ceda8a
16:89357486 ANKRD11 A>AG	16	89357486	89357491	A	AG	ANKRD11	c.331dup	NM_013275.6	NP_037407.4:p.(Leu111ProfsTer50)	NC_000016.9:g.89357491dup	(Likely) pathogenic	1 lab	96154dd94f
2:179395645 TTN T>G	2	179395645	179395645	T	G	TTN	c.105697A>C	NM_001267550.2	NP_001254479.2:p.(Arg35233=)	NC_000002.11:g.179395645T>G	(Likely) benign	1 lab	9616615f62
12:52164351 SCN8A G>A	12	52164351	52164351	G	A	SCN8A	c.3529G>A	NM_014191.3	NP_055006.1:p.(Glu1177Lys)	NC_000012.11:g.52164351G>A	VUS	1 lab	9617d950c2
5:112151290 APC G>C	5	112151290	112151290	G	C	APC	c.933G>C	NM_000038.5	NP_000029.2:p.(Lys311Asn)	NC_000005.9:g.112151290G>C	(Likely) pathogenic	1 lab	9618670194
7:35280693 TBX20 C>T	7	35280693	35280693	C	T	TBX20	c.655-44G>A	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35280693C>T	(Likely) benign	1 lab	96216ab714
1:155870173 RIT1 T>C	1	155870173	155870173	T	C	RIT1	c.*6A>G	NM_001256821.1	NP_001243750.1:p.?	NC_000001.10:g.155870173T>C	(Likely) benign	1 lab	9621c8b59e
X:153994596 DKC1 G>T	X	153994596	153994596	G	T	DKC1	c.369G>T	NM_001363.5	NP_001354.1:p.(Thr123=)	NC_000023.10:g.153994596G>T	(Likely) benign	1 lab	08b4e000c6
2:179439444 TTN A>G	2	179439444	179439444	A	G	TTN	c.71415T>C	NM_001267550.2	NP_001254479.2:p.(Asn23805=)	NC_000002.11:g.179439444A>G	(Likely) benign	1 lab	9622c134f4
1:237532895 RYR2 C>T	1	237532895	237532895	C	T	RYR2	c.371C>T	NM_001035.3	NP_001026.2:p.(Ser124Phe)	NC_000001.10:g.237532895C>T	VUS	1 lab	96231efa2c
16:47630336 PHKB T>A	16	47630336	47630336	T	A	PHKB	c.1257T>A	NM_000293.3	NP_000284.1:p.(Tyr419Ter)	NC_000016.9:g.47630336T>A	(Likely) pathogenic	1 lab	96242101fa
14:58785483 ARID4A G>T	14	58785483	58785483	G	T	ARID4A	c.409G>T	NM_002892.3	NP_002883.3:p.(Ala137Ser)	NC_000014.8:g.58785483G>T	VUS	1 lab	9624b09ddc
X:153418535 OPN1LW A>G	X	153418535	153418535	A	G	OPN1LW	c.532A>G	NM_020061.4	NP_064445.1:p.(Ile178Val)	NC_000023.10:g.153418535A>G	(Likely) pathogenic	1 lab	9625625a78
15:28197041 OCA2 G>C	15	28197041	28197041	G	C	OCA2	c.1843-3C>G	NM_000275.3	NP_000266.2:p.?	NC_000015.9:g.28197041G>C	VUS	1 lab	9886b186e4
16:56920979 SLC12A3 C>T	16	56920979	56920979	C	T	SLC12A3	c.2152C>T	NM_001126108.2	NP_001119580.2:p.(Arg718Cys)	NC_000016.9:g.56920979C>T	VUS	1 lab	9625b2371a
3:186256602 CRYGS A>C	3	186256602	186256602	A	C	CRYGS	c.420T>G	NM_017541.4	NP_060011.1:p.(Tyr140Ter)	NC_000003.11:g.186256602A>C	(Likely) pathogenic	1 lab	962cb397d0
4:78987172 FRAS1 T>C	4	78987172	78987172	T	C	FRAS1	c.108+2T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.78987172T>C	(Likely) pathogenic	1 lab	0e4ce0c102
6:36269725 PNPLA1 A>G	6	36269725	36269725	A	G	PNPLA1	c.863A>G	NM_001145717.1	NP_001139189.2:p.(Glu288Gly)	NC_000006.11:g.36269725A>G	(Likely) benign	1 lab	963155b4b9
8:56910983 LYN G>A	8	56910983	56910983	G	A	LYN	c.1129G>A	NM_002350.4	NP_002341.1:p.(Glu377Lys)	NC_000008.10:g.56910983G>A	VUS	1 lab	08b5432d81
2:167263155 SCN7A T>A	2	167263155	167263155	T	A	SCN7A	c.3984A>T	NM_002976.3	NP_002967.2:p.(Gly1328=)	NC_000002.11:g.167263155T>A	(Likely) benign	1 lab	9631c85d11
2:46588194 EPAS1 C>T	2	46588194	46588194	C	T	EPAS1	c.744C>T	NM_001430.5	NP_001421.2:p.(His248=)	NC_000002.11:g.46588194C>T	(Likely) benign	1 lab	96331097f0
17:42934494 EFTUD2 GT>G	17	42934494	42934495	GT	G	EFTUD2	c.1993del	NM_004247.4	NP_004238.3:p.(Thr665ArgfsTer23)	NC_000017.10:g.42934495del	(Likely) pathogenic	1 lab	9637a7c614
5:112154682 APC T>A	5	112154682	112154682	T	A	APC	c.953T>A	NM_000038.6	NP_000029.2:p.(Leu318Ter)	NC_000005.9:g.112154682T>A	(Likely) pathogenic	1 lab	9637e826f6
1:26392870 TRIM63 C>T	1	26392870	26392870	C	T	TRIM63	c.221G>A	NM_032588.3	NP_115977.2:p.(Arg74His)	NC_000001.10:g.26392870C>T	(Likely) benign	1 lab	963a22942f
1:8420284 RERE CCTT>C	1	8420284	8420287	CCTT	C	RERE	c.3280_3282del	NM_012102.3	NP_036234.3:p.(Lys1094del)	NC_000001.10:g.8420285_8420287del	VUS	1 lab	963fecfc4f
2:179441804 TTN C>T	2	179441804	179441804	C	T	TTN	c.69258G>A	NM_001267550.2	NP_001254479.2:p.(Leu23086=)	NC_000002.11:g.179441804C>T	(Likely) benign	1 lab	9640c410dd
17:60598179 TLK2 G>A	17	60598179	60598179	G	A	TLK2	c.127G>A	NM_006852.6	NP_006843.2:p.(Gly43Arg)	NC_000017.10:g.60598179G>A	(Likely) pathogenic	1 lab	9641f3e266
X:107084026 MID2 C>A	X	107084026	107084026	C	A	MID2	c.131C>A	NM_012216.3	NP_036348.2:p.(Pro44His)	NC_000023.10:g.107084026C>A	VUS	1 lab	96450dfcdd
5:112043415 APC A>G	5	112043415	112043415	A	G	APC				NC_000005.9:g.112043415A>G	VUS	1 lab	964738432a
17:7579828 TP53 G>T	17	7579828	7579828	G	T	TP53				NC_000017.10:g.7579828G>T	(Likely) benign	1 lab	9922c8940b
1:197404292 CRB1 T>C	1	197404292	197404292	T	C	CRB1	c.3299T>C	NM_201253.3	NP_957705.1:p.(Ile1100Thr)	NC_000001.10:g.197404292T>C	(Likely) pathogenic	1 lab	964e6ddbfd
9:77418802 TRPM6 G>A	9	77418802	77418802	G	A	TRPM6	c.1639C>T	NM_017662.5	NP_060132.3:p.(His547Tyr)	NC_000009.11:g.77418802G>A	(Likely) benign	1 lab	0e4d1eff18
19:55652274 TNNT1 G>A	19	55652274	55652274	G	A	TNNT1	c.364C>T	NM_003283.5	NP_003274.3:p.(Arg122Cys)	NC_000019.9:g.55652274G>A	VUS	1 lab	9650b254a9
6:149721798 SUMO4 A>T	6	149721798	149721798	A	T	SUMO4	c.271A>T	NM_001002255.2	NP_001002255.1:p.(Thr91Ser)	NC_000006.11:g.149721798A>T	(Likely) benign	1 lab	96512ee729
17:37822440 TCAP T>G	17	37822440	37822440	T	G	TCAP	c.*78T>G	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37822440T>G	(Likely) benign	1 lab	965157a9c4
16:20360525 UMOD G>C	16	20360525	20360525	G	C	UMOD	c.98C>G	NM_003361.3	NP_003352.2:p.(Ser33Cys)	NC_000016.9:g.20360525G>C	(Likely) pathogenic	1 lab	965444ad14
13:32936751 BRCA2 G>T	13	32936751	32936751	G	T	BRCA2	c.7897G>T	NM_000059.3	NP_000050.2:p.(Ala2633Ser)	NC_000013.10:g.32936751G>T	VUS	1 lab	965aa3ee47
17:17117231 FLCN C>T	17	17117231	17117231	C	T	FLCN	c.1539-61G>A	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17117231C>T	(Likely) benign	1 lab	965b01bfde
1:147230842 GJA5 C>CA	1	147230842	147230844	C	CA	GJA5	c.504dup	NM_005266.6	NP_005257.2:p.(Val169CysfsTer54)	NC_000001.10:g.147230844dup	VUS	1 lab	965cc4032c
1:241667423 FH G>A	1	241667423	241667423	G	A	FH	c.1027C>T	NM_000143.3	NP_000134.2:p.(Arg343Ter)	NC_000001.10:g.241667423G>A	(Likely) pathogenic	1 lab	965e43759d
2:215818615 ABCA12 G>A	2	215818615	215818615	G	A	ABCA12	c.6610C>T	NM_173076.2	NP_775099.2:p.(Arg2204Ter)	NC_000002.11:g.215818615G>A	(Likely) pathogenic	1 lab	965f52c292
1:36937905 CSF3R G>A	1	36937905	36937905	G	A	CSF3R	c.931C>T	NM_000760.4	NP_000751.1:p.(Arg311Cys)	NC_000001.10:g.36937905G>A	VUS	1 lab	965fcad751
2:179753259 CCDC141 G>A	2	179753259	179753259	G	A	CCDC141	c.1402C>T	NM_173648.4	NP_775919.3:p.(Arg468Trp)	NC_000002.11:g.179753259G>A	VUS	1 lab	9662d46ff7
10:89653846 PTEN C>A	10	89653846	89653846	C	A	PTEN	c.144C>A	NM_000314.4	NP_000305.3:p.(Asn48Lys)	NC_000010.10:g.89653846C>A	(Likely) pathogenic	1 lab	96633920d7
7:70228230 AUTS2 C>T	7	70228230	70228230	C	T	AUTS2				NC_000007.13:g.70228230C>T	(Likely) pathogenic	1 lab	96636272ec
7:6094177 EIF2AK1 G>A	7	6094177	6094177	G	A	EIF2AK1	c.277C>T	NM_014413.4	NP_055228.2:p.(Leu93=)	NC_000007.13:g.6094177G>A	(Likely) benign	1 lab	08b9b1fc28
X:13734176 TRAPPC2 G>A	X	13734176	13734176	G	A	TRAPPC2				NC_000023.10:g.13734176G>A	(Likely) pathogenic	1 lab	966d65c1a1
19:40903719 PRX C>T	19	40903719	40903719	C	T	PRX	c.540G>A	NM_181882.2	NP_870998.2:p.(Pro180=)	NC_000019.9:g.40903719C>T	(Likely) benign	1 lab	0e4ea89417
11:64503461 RASGRP2 C>T	11	64503461	64503461	C	T	RASGRP2	c.1096-9G>A	NM_153819.1	NP_722541.1:p.?	NC_000011.9:g.64503461C>T	(Likely) benign	1 lab	0e53429f77
16:28895896 ATP2A1 T>C	16	28895896	28895896	T	C	ATP2A1	c.464T>C	NM_004320.4	NP_004311.1:p.(Val155Ala)	NC_000016.9:g.28895896T>C	VUS	1 lab	9675afa1a3
6:157100383 ARID1B C>G	6	157100383	157100383	C	G	ARID1B	c.1569C>G	NM_001374828.1	NP_001361757.1:p.(Tyr523Ter)	NC_000006.11:g.157100383C>G	(Likely) pathogenic	1 lab	9676915dba
5:176831589 F12 G>A	5	176831589	176831589	G	A	F12	c.711C>T	NM_000505.3	NP_000496.2:p.(Pro237=)	NC_000005.9:g.176831589G>A	(Likely) benign	1 lab	96773338b8
5:89949562 ADGRV1 G>T	5	89949562	89949562	G	T	ADGRV1	c.4171G>T	NM_032119.4	NP_115495.3:p.(Glu1391Ter)	NC_000005.9:g.89949562G>T	(Likely) pathogenic	1 lab	9677c9ddc5
2:48047569 FBXO11 T>C	2	48047569	48047569	T	C	FBXO11	c.1729A>G	NM_001190274.2	NP_001177203.1:p.(Arg577Gly)	NC_000002.11:g.48047569T>C	(Likely) pathogenic	1 lab	9679286c70
6:7581738 DSP A>T	6	7581738	7581738	A	T	DSP	c.5315A>T	NM_004415.4	NP_004406.2:p.(Asp1772Val)	NC_000006.11:g.7581738A>T	VUS	1 lab	967aebcc2d
10:76781046 KAT6B A>G	10	76781046	76781046	A	G	KAT6B	c.3021+3A>G	NM_012330.3	NP_036462.2:p.?	NC_000010.10:g.76781046A>G	(Likely) benign	1 lab	967d45c75c
1:216371855 USH2A G>A	1	216371855	216371855	G	A	USH2A	c.3883C>T	NM_206933.2	NP_996816.2:p.(Arg1295Ter)	NC_000001.10:g.216371855G>A	(Likely) pathogenic	1 lab	9682555d66
5:112175907 APC CAG>C	5	112175907	112175911	CAG	C	APC	c.4619_4620del	NM_000038.6	NP_000029.2:p.(Glu1540AlafsTer3)	NC_000005.9:g.112175910_112175911del	(Likely) pathogenic	1 lab	9683511015
18:52928696 TCF4 C>T	18	52928696	52928696	C	T	TCF4	c.990+1G>A	NM_001083962.1	NP_001077431.1:p.?	NC_000018.9:g.52928696C>T	(Likely) pathogenic	1 lab	9683e5135f
9:140707626 EHMT1 G>A	9	140707626	140707626	G	A	EHMT1	c.3035+1G>A	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140707626G>A	(Likely) pathogenic	1 lab	968b6ede28
1:26140482 SELENON C>T	1	26140482	26140482	C	T	SELENON				NC_000001.10:g.26140482C>T	(Likely) pathogenic	1 lab	968bd7a3e4
17:18042255 MYO15A G>T	17	18042255	18042255	G	T	MYO15A	c.5133+5G>T	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18042255G>T	VUS	1 lab	968fbcd8bb
X:17745540 NHS G>A	X	17745540	17745540	G	A	NHS	c.3251G>A	NM_198270.4	NP_938011.1:p.(Arg1084His)	NC_000023.10:g.17745540G>A	VUS	1 lab	9693aa49d8
3:38892101 SCN11A G>A	3	38892101	38892101	G	A	SCN11A				NC_000003.11:g.38892101G>A	(Likely) benign	1 lab	9695e7bf64
14:23886724 MYH7 C>T	14	23886724	23886724	C	T	MYH7	c.4341G>A	NM_000257.3	NP_000248.2:p.(Arg1447=)	NC_000014.8:g.23886724C>T	(Likely) benign	1 lab	969c152aa8
15:42702692 CAPN3 C>T	15	42702692	42702692	C	T	CAPN3				NC_000015.9:g.42702692C>T	(Likely) pathogenic	1 lab	969ccb398f
X:85211224 CHM C>T	X	85211224	85211224	C	T	CHM	c.1100G>A	NM_000390.2	NP_000381.1:p.(Arg367Gln)	NC_000023.10:g.85211224C>T	(Likely) benign	1 lab	0e54889baf
4:41266147 UCHL1 A>ATGGC	4	41266147	41266151	A	ATGGC	UCHL1	c.555_558dup	NM_004181.4	NP_004172.2:p.(Ala187TrpfsTer23)	NC_000004.11:g.41266148_41266151dup	(Likely) pathogenic	1 lab	96a4425c5b
8:61743013 CHD7 C>T	8	61743013	61743013	C	T	CHD7				NC_000008.10:g.61743013C>T	(Likely) pathogenic	1 lab	96a721e611
11:118038949 SCN2B T>C	11	118038949	118038949	T	C	SCN2B	c.299A>G	NM_004588.5	NP_004579.1:p.(Glu100Gly)	NC_000011.9:g.118038949T>C	(Likely) benign	1 lab	96a863f97e
17:6330281 AIPL1 G>A	17	6330281	6330281	G	A	AIPL1	c.562C>T	NM_014336.3	NP_055151.3:p.(Leu188Phe)	NC_000017.10:g.6330281G>A	VUS	1 lab	96a8b400d6
1:171083403 FMO3 G>C	1	171083403	171083403	G	C	FMO3	c.1084G>C	NM_001002294.3	NP_001002294.1:p.(Glu362Gln)	NC_000001.10:g.171083403G>C	VUS	1 lab	96ab73b940
1:236925911 ACTN2 G>A	1	236925911	236925911	G	A	ACTN2	c.2053G>A	NM_001278344.2	NP_001265273.1:p.(Asp685Asn)	NC_000001.10:g.236925911G>A	VUS	1 lab	08bcaf8db6
3:138664915 FOXL2 G>A	3	138664915	138664915	G	A	FOXL2	c.650C>T	NM_023067.4	NP_075555.1:p.(Ser217Phe)	NC_000003.11:g.138664915G>A	(Likely) pathogenic	1 lab	96adde8314
1:197237571 CRB1 T>C	1	197237571	197237571	T	C	CRB1	c.29T>C	NM_201253.3	NP_957705.1:p.(Leu10Pro)	NC_000001.10:g.197237571T>C	VUS	1 lab	96b01078c1
7:6045934 PMS2 T>C	7	6045934	6045934	T	C	PMS2	c.24-272A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6045934T>C	(Likely) benign	1 lab	96b247b2f0
20:2411583 TGM6 T>G	20	2411583	2411583	T	G	TGM6	c.1877T>G	NM_198994.2	NP_945345.2:p.(Val626Gly)	NC_000020.10:g.2411583T>G	VUS	1 lab	96b73a0808
3:130682835 ATP2C1 C>T	3	130682835	130682835	C	T	ATP2C1	c.920C>T	NM_014382.3	NP_055197.2:p.(Pro307Leu)	NC_000003.11:g.130682835C>T	(Likely) pathogenic	1 lab	96b91357de
2:170677784 METTL5 C>G	2	170677784	170677784	C	G	METTL5	c.225-1G>C	NM_014168.4	NP_054887.2:p.?	NC_000002.11:g.170677784C>G	VUS	1 lab	96ba55592e
14:77786822 POMT2 G>A	14	77786822	77786822	G	A	POMT2				NC_000014.8:g.77786822G>A	VUS	1 lab	96bda73100
17:48245042 SGCA C>T	17	48245042	48245042	C	T	SGCA	c.257C>T	NM_000023.3	NP_000014.1:p.(Pro86Leu)	NC_000017.10:g.48245042C>T	(Likely) pathogenic	1 lab	96bdf48123
3:37034984 MLH1 C>T	3	37034984	37034984	C	T	MLH1				NC_000003.11:g.37034984C>T	(Likely) benign	1 lab	96bef776bf
15:48755359 FBN1 G>A	15	48755359	48755359	G	A	FBN1	c.5144C>T	NM_000138.5	NP_000129.3:p.(Thr1715Ile)	NC_000015.9:g.48755359G>A	(Likely) pathogenic	1 lab	96bf7ed9bb
17:7910025 GUCY2D C>T	17	7910025	7910025	C	T	GUCY2D	c.1371C>T	NM_000180.3	NP_000171.1:p.(Cys457=)	NC_000017.10:g.7910025C>T	(Likely) benign	1 lab	96c35562de
2:179498398 TTN C>T	2	179498398	179498398	C	T	TTN	c.42688G>A	NM_001267550.2	NP_001254479.2:p.(Asp14230Asn)	NC_000002.11:g.179498398C>T	(Likely) benign	1 lab	96c531713c
5:112174745 APC C>T	5	112174745	112174745	C	T	APC	c.3454C>T	NM_000038.6	NP_000029.2:p.(Gln1152Ter)	NC_000005.9:g.112174745C>T	(Likely) pathogenic	1 lab	96c7305df6
15:43892209 STRC G>A	15	43892209	43892209	G	A	STRC	c.5188C>T	NM_153700.2	NP_714544.1:p.(Arg1730Ter)	NC_000015.9:g.43892209G>A	(Likely) pathogenic	1 lab	96c99e7036
1:216348577 USH2A A>G	1	216348577	216348577	A	G	USH2A	c.4627+17T>C	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216348577A>G	(Likely) benign	1 lab	96ca99c4c2
17:41276013 BRCA1 T>C	17	41276013	41276013	T	C	BRCA1	c.80+21A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276013T>C	(Likely) benign	1 lab	96cbe7dc4e
19:48182855 BICRA C>G	19	48182855	48182855	C	G	BICRA	c.428C>G	NM_015711.3	NP_056526.3:p.(Pro143Arg)	NC_000019.9:g.48182855C>G	VUS	1 lab	08c16071aa
16:28914724 ATP2A1 C>T	16	28914724	28914724	C	T	ATP2A1	c.2943C>T	NM_004320.6	NP_004311.1:p.(Asp981=)	NC_000016.9:g.28914724C>T	(Likely) benign	1 lab	96d058e5e9
1:17349143 SDHB C>T	1	17349143	17349143	C	T	SDHB	c.725G>A	NM_003000.3	NP_002991.2:p.(Arg242His)	NC_000001.10:g.17349143C>T	(Likely) pathogenic	1 lab	96d11017c2
X:103040663 PLP1 A>G	X	103040663	103040663	A	G	PLP1	c.157A>G	NM_001128834.2	NP_001122306.1:p.(Lys53Glu)	NC_000023.10:g.103040663A>G	(Likely) pathogenic	1 lab	96d195e7d0
2:197066092 HECW2 C>T	2	197066092	197066092	C	T	HECW2	c.4628G>A	NM_020760.3	NP_065811.1:p.(Arg1543His)	NC_000002.11:g.197066092C>T	VUS	1 lab	96d310bf91
3:38764904 SCN10A T>G	3	38764904	38764904	T	G	SCN10A	c.3352+17A>C	NM_006514.2	NP_006505.2:p.?	NC_000003.11:g.38764904T>G	VUS	1 lab	96d632b389
X:49104693 MISSING G>C	X	49104693	49104693	G	C	MISSING				NC_000023.10:g.49104693G>C	(Likely) benign	1 lab	96d83fd865
12:2779854 CACNA1C G>A	12	2779854	2779854	G	A	CACNA1C	c.4726+1653G>A	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2779854G>A	VUS	1 lab	174bf19228
14:23885557 MYH7 A>G	14	23885557	23885557	A	G	MYH7	c.4645-36T>C	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885557A>G	(Likely) benign	1 lab	96e5365c19
1:228412415 OBSCN C>T	1	228412415	228412415	C	T	OBSCN	c.2909C>T	NM_052843.4	NP_443075.3:p.(Ser970Phe)	NC_000001.10:g.228412415C>T	VUS	1 lab	08c6a72b5f
1:12067224 MFN2 C>T	1	12067224	12067224	C	T	MFN2	c.1987C>T	NM_014874.3	NP_055689.1:p.(Arg663Cys)	NC_000001.10:g.12067224C>T	VUS	1 lab	96e76e92c7
X:41203504 DDX3X T>C	X	41203504	41203504	T	C	DDX3X				NC_000023.10:g.41203504T>C	(Likely) pathogenic	1 lab	96e7892422
1:112524619 KCND3 G>A	1	112524619	112524619	G	A	KCND3	c.730C>T	NM_004980.4	NP_004971.2:p.(Arg244Trp)	NC_000001.10:g.112524619G>A	VUS	1 lab	96e9a0b5d9
X:38144829 RPGR C>T	X	38144829	38144829	C	T	RPGR	c.3423G>A	NM_001034853.1	NP_001030025.1:p.(Trp1141Ter)	NC_000023.10:g.38144829C>T	(Likely) pathogenic	1 lab	96eb770652
11:120989119 TECTA T>C	11	120989119	120989119	T	C	TECTA				NC_000011.9:g.120989119T>C	VUS	1 lab	96ec29e34e
15:72637881 HEXA C>T	15	72637881	72637881	C	T	HEXA	c.1465G>A	NM_001318825.1	NP_001305754.1:p.(Gly489Arg)	NC_000015.9:g.72637881C>T	(Likely) pathogenic	1 lab	96f0d56400
1:215955518 USH2A G>A	1	215955518	215955518	G	A	USH2A	c.10606C>T	NM_206933.2	NP_996816.2:p.(Leu3536Phe)	NC_000001.10:g.215955518G>A	VUS	1 lab	96f32f1996
X:152991541 ABCD1 C>T	X	152991541	152991541	C	T	ABCD1	c.820C>T	NM_000033.4	NP_000024.2:p.(Arg274Trp)	NC_000023.10:g.152991541C>T	VUS	1 lab	96f731bc9e
3:37056021 MLH1 T>G	3	37056021	37056021	T	G	MLH1	c.776T>G	NM_000249.3	NP_000240.1:p.(Leu259Ter)	NC_000003.11:g.37056021T>G	(Likely) pathogenic	1 lab	96f807400b
18:45396947 SMAD2 T>C	18	45396947	45396947	T	C	SMAD2				NC_000018.9:g.45396947T>C	VUS	1 lab	96f884257f
3:189608664 TP63 C>T	3	189608664	189608664	C	T	TP63	c.1739C>T	NM_003722.4	NP_003713.3:p.(Ser580Phe)	NC_000003.11:g.189608664C>T	(Likely) pathogenic	1 lab	96f89aa5d6
7:128470962 FLNC A>G	7	128470962	128470962	A	G	FLNC	c.271A>G	NM_001458.5	NP_001449.3:p.(Asn91Asp)	NC_000007.13:g.128470962A>G	VUS	1 lab	96fcec1cc2
3:48624765 COL7A1 C>T	3	48624765	48624765	C	T	COL7A1	c.2997G>A	NM_000094.4	NP_000085.1:p.(Val999=)	NC_000003.11:g.48624765C>T	(Likely) benign	1 lab	08ca19420d
13:32910909 BRCA2 A>T	13	32910909	32910909	A	T	BRCA2	c.2417A>T	NM_000059.3	NP_000050.2:p.(Asp806Val)	NC_000013.10:g.32910909A>T	(Likely) benign	1 lab	9702c02a03
15:63353090 TPM1 T>C	15	63353090	63353090	T	C	TPM1	c.515T>C	NM_001018005.2	NP_001018005.1:p.(Ile172Thr)	NC_000015.9:g.63353090T>C	VUS	1 lab	970330dd88
2:62065851 FAM161A C>T	2	62065851	62065851	C	T	FAM161A	c.1584-11G>A	NM_001201543.1	NP_001188472.1:p.?	NC_000002.11:g.62065851C>T	(Likely) benign	1 lab	9706fb6357
1:237586447 RYR2 A>G	1	237586447	237586447	A	G	RYR2	c.904A>G	NM_001035.3	NP_001026.2:p.(Thr302Ala)	NC_000001.10:g.237586447A>G	VUS	1 lab	9707c22520
20:31022832 ASXL1 G>T	20	31022832	31022832	G	T	ASXL1	c.2317G>T	NM_015338.5	NP_056153.2:p.(Glu773Ter)	NC_000020.10:g.31022832G>T	(Likely) pathogenic	1 lab	970a84aa7f
2:202588052 ALS2 C>T	2	202588052	202588052	C	T	ALS2	c.3624+1G>A	NM_020919.3	NP_065970.2:p.?	NC_000002.11:g.202588052C>T	(Likely) pathogenic	1 lab	97114e3bbd
2:179615314 TTN C>T	2	179615314	179615314	C	T	TTN	c.11311+2537G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615314C>T	VUS	1 lab	9715936278
X:85236740 CHM C>T	X	85236740	85236740	C	T	CHM	c.189+1G>A	NM_000390.3	NP_000381.1:p.?	NC_000023.10:g.85236740C>T	(Likely) pathogenic	1 lab	9717603c19
13:32953955 BRCA2 AT>A	13	32953955	32953958	AT	A	BRCA2	c.9025del	NM_000059.4	NP_000050.3:p.(Tyr3009IlefsTer19)	NC_000013.10:g.32953958del	(Likely) pathogenic	1 lab	08d052c908
10:16918960 CUBN CAG>C	10	16918960	16918963	CAG	C	CUBN	c.9040_9041del	NM_001081.3	NP_001072.2:p.(Leu3014AlafsTer2)	NC_000010.10:g.16918962_16918963del	(Likely) pathogenic	1 lab	971bbb8cfe
X:71829493 PHKA1 G>A	X	71829493	71829493	G	A	PHKA1	c.2587C>T	NM_002637.3	NP_002628.2:p.(Arg863Ter)	NC_000023.10:g.71829493G>A	(Likely) pathogenic	1 lab	971c19ba4d
6:7562952 DSP G>A	6	7562952	7562952	G	A	DSP	c.665G>A	NM_004415.2	NP_004406.2:p.(Arg222Gln)	NC_000006.11:g.7562952G>A	VUS	1 lab	0e59e0684e
11:119145678 CBL G>A	11	119145678	119145678	G	A	CBL	c.869+15G>A	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119145678G>A	(Likely) benign	1 lab	9723025fe6
1:74930390 TNNI3K T>C	1	74930390	74930390	T	C	TNNI3K	c.2121+1156T>C	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74930390T>C	(Likely) benign	1 lab	972328c016
1:196797216 CFHR1 T>C	1	196797216	196797216	T	C	CFHR1	c.447T>C	NM_002113.2	NP_002104.2:p.(Asn149=)	NC_000001.10:g.196797216T>C	(Likely) benign	1 lab	97238ee380
12:56579937 SMARCC2 A>T	12	56579937	56579937	A	T	SMARCC2	c.317+2T>A	NM_003075.3	NP_003066.2:p.?	NC_000012.11:g.56579937A>T	VUS	1 lab	9723ba0eb2
11:120980179 TECTA C>T	11	120980179	120980179	C	T	TECTA				NC_000011.9:g.120980179C>T	VUS	1 lab	972d3cd486
19:1627426 TCF3 C>T	19	1627426	1627426	C	T	TCF3	c.299-1G>A	NM_003200.4	NP_003191.1:p.?	NC_000019.9:g.1627426C>T	(Likely) pathogenic	1 lab	972d54aabc
5:112175672 APC G>T	5	112175672	112175672	G	T	APC	c.4381G>T	NM_000038.6	NP_000029.2:p.(Glu1461Ter)	NC_000005.9:g.112175672G>T	(Likely) pathogenic	1 lab	972d621e17
1:11345879 UBIAD1 C>G	1	11345879	11345879	C	G	UBIAD1	c.708C>G	NM_013319.3	NP_037451.1:p.(Asp236Glu)	NC_000001.10:g.11345879C>G	VUS	1 lab	972fa2f7a7
X:21613200 CNKSR2 GT>G	X	21613200	21613211	GT	G	CNKSR2	c.1904+46del	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21613211del	(Likely) benign	1 lab	0e5c1e20b1
5:43651828 NNT T>G	5	43651828	43651828	T	G	NNT	c.1718-13T>G	NM_012343.3	NP_036475.3:p.?	NC_000005.9:g.43651828T>G	(Likely) benign	1 lab	97330c7a9f
X:153416362 OPN1LW C>G	X	153416362	153416362	C	G	OPN1LW	c.347C>G	NM_020061.5	NP_064445.2:p.(Ser116Cys)	NC_000023.10:g.153416362C>G	(Likely) benign	1 lab	9734a8978e
9:123734287 C5 GAAAC>G	9	123734287	123734295	GAAAC	G	C5	c.4018-21_4018-18del	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123734292_123734295del	(Likely) benign	1 lab	9734afe70e
19:3600161 TBXA2R C>T	19	3600161	3600161	C	T	TBXA2R	c.472G>A	NM_201636.2	NP_963998.2:p.(Ala158Thr)	NC_000019.9:g.3600161C>T	VUS	1 lab	97356366ab
13:32900758 BRCA2 T>C	13	32900758	32900758	T	C	BRCA2	c.631+8T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900758T>C	(Likely) benign	1 lab	9735a0578b
12:49231839 DDX23 G>A	12	49231839	49231839	G	A	DDX23	c.505C>T	NM_004818.3	NP_004809.2:p.(Arg169Ter)	NC_000012.11:g.49231839G>A	VUS	1 lab	9735f29517
4:1808989 FGFR3 A>C	4	1808989	1808989	A	C	FGFR3	c.2421A>C	NM_000142.5	NP_000133.1:p.(Ter807CysextTer101)	NC_000004.11:g.1808989A>C	(Likely) pathogenic	1 lab	9736349a76
5:145537108 LARS1 C>T	5	145537108	145537108	C	T	LARS1	c.923G>A	NM_020117.11	NP_064502.9:p.(Arg308His)	NC_000005.9:g.145537108C>T	VUS	1 lab	9736934cef
2:68622914 MISSING G>A	2	68622914	68622914	G	A	MISSING				NC_000002.11:g.68622914G>A	(Likely) benign	1 lab	973753d571
14:100808878 WARS1 C>T	14	100808878	100808878	C	T	WARS1	c.970G>A	NM_004184.4	NP_004175.2:p.(Ala324Thr)	NC_000014.8:g.100808878C>T	VUS	1 lab	973b08264b
7:21730462 DNAH11 C>T	7	21730462	21730462	C	T	DNAH11				NC_000007.13:g.21730462C>T	(Likely) pathogenic	1 lab	973c113fae
10:85955334 CDHR1 A>C	10	85955334	85955334	A	C	CDHR1	c.140A>C	NM_033100.3	NP_149091.1:p.(Asp47Ala)	NC_000010.10:g.85955334A>C	VUS	1 lab	973d33886c
20:32031245 SNTA1 G>C	20	32031245	32031245	G	C	SNTA1	c.182C>G	NM_003098.2	NP_003089.1:p.(Pro61Arg)	NC_000020.10:g.32031245G>C	VUS	1 lab	973dc9c2ca
X:67518889 OPHN1 C>G	X	67518889	67518889	C	G	OPHN1	c.204G>C	NM_002547.2	NP_002538.1:p.(Gln68His)	NC_000023.10:g.67518889C>G	VUS	1 lab	97400f157d
11:108139174 ATM G>T	11	108139174	108139174	G	T	ATM	c.2676G>T	NM_000051.3	NP_000042.3:p.(Lys892Asn)	NC_000011.9:g.108139174G>T	(Likely) benign	1 lab	9741ab16dd
17:5486173 NLRP1 G>C	17	5486173	5486173	G	C	NLRP1	c.272-7C>G	NM_033004.4	NP_127497.1:p.?	NC_000017.10:g.5486173G>C	(Likely) benign	1 lab	0e5d05a1cc
1:228503673 OBSCN G>A	1	228503673	228503673	G	A	OBSCN	c.16009G>A	NM_001271223.2	NP_001258152.2:p.(Val5337Met)	NC_000001.10:g.228503673G>A	(Likely) benign	1 lab	974b6ee6ac
3:176771599 TBL1XR1 C>G	3	176771599	176771599	C	G	TBL1XR1	c.166G>C	NM_001321194.1	NP_001308123.1:p.(Gly56Arg)	NC_000003.11:g.176771599C>G	(Likely) pathogenic	1 lab	974d10e352
12:110032934 MVK C>A	12	110032934	110032934	C	A	MVK	c.987C>A	NM_000431.2	NP_000422.1:p.(Ser329Arg)	NC_000012.11:g.110032934C>A	(Likely) pathogenic	1 lab	0e5f48ec02
2:152698419 CACNB4 G>A	2	152698419	152698419	G	A	CACNB4	c.1300C>T	NM_000726.5	NP_000717.2:p.(Gln434Ter)	NC_000002.11:g.152698419G>A	VUS	1 lab	97526a9c55
10:55582106 PCDH15 TAGGAGG>T	10	55582106	55582116	TAGGAGG	T	PCDH15	c.5374_5379del	NM_033056.4	NP_149045.3:p.(Pro1792_Pro1793del)	NC_000010.10:g.55582111_55582116del	VUS	1 lab	9752a10af0
15:35085620 ACTC1 TGTAGAA>T	15	35085620	35085627	TGTAGAA	T	ACTC1	c.274_279del	NM_005159.5	NP_005150.1:p.(Phe92_Tyr93del)	NC_000015.9:g.35085622_35085627del	VUS	1 lab	0e62205e22
9:98229625 PTCH1 G>GT	9	98229625	98229626	G	GT	PTCH1	c.2332dup	NM_000264.5	NP_000255.2:p.(Thr778AsnfsTer12)	NC_000009.11:g.98229626dup	(Likely) pathogenic	1 lab	975354b868
14:64421439 SYNE2 A>G	14	64421439	64421439	A	G	SYNE2	c.593A>G	NM_182914.2	NP_878918.2:p.(Tyr198Cys)	NC_000014.8:g.64421439A>G	VUS	1 lab	0e6781fe92
17:41267797 BRCA1 C>T	17	41267797	41267797	C	T	BRCA1	c.81-1G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41267797C>T	(Likely) pathogenic	1 lab	975539f7d7
11:67257556 AIP C>T	11	67257556	67257556	C	T	AIP	c.516C>T	NM_003977.2	NP_003968.2:p.(Asp172=)	NC_000011.9:g.67257556C>T	(Likely) benign	1 lab	0e75093629
3:52436418 BAP1 C>T	3	52436418	52436418	C	T	BAP1	c.2076G>A	NM_004656.3	NP_004647.1:p.(Val692=)	NC_000003.11:g.52436418C>T	(Likely) benign	1 lab	975d79ee59
1:16374540 CLCNKB G>C	1	16374540	16374540	G	C	CLCNKB	c.498+1G>C	NM_000085.4	NP_000076.2:p.?	NC_000001.10:g.16374540G>C	(Likely) pathogenic	1 lab	975dfbe281
21:47422638 COL6A1 C>CGCCCGA	21	47422638	47422639	C	CGCCCGA	COL6A1	c.2434+14_2434+15insGCCCGA	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47422638_47422639insGCCCGA	(Likely) benign	1 lab	976867ba2a
4:187201670 F11 TA>T	4	187201670	187201674	TA	T	F11	c.1075del	NM_000128.4	NP_000119.1:p.(Ile359TyrfsTer13)	NC_000004.11:g.187201674del	(Likely) pathogenic	1 lab	976ae75295
12:56487212 ERBB3 G>A	12	56487212	56487212	G	A	ERBB3	c.1358G>A	NM_001982.3	NP_001973.2:p.(Arg453His)	NC_000012.11:g.56487212G>A	VUS	1 lab	9772383aab
18:47563332 MYO5B G>A	18	47563332	47563332	G	A	MYO5B	c.343C>T	NM_001080467.3	NP_001073936.1:p.(Gln115Ter)	NC_000018.9:g.47563332G>A	(Likely) pathogenic	1 lab	97737b71c4
4:114290945 ANK2 A>G	4	114290945	114290945	A	G	ANK2	c.11594A>G	NM_001148.4	NP_001139.3:p.(Asp3865Gly)	NC_000004.11:g.114290945A>G	(Likely) benign	1 lab	9774627858
3:168812921 MECOM C>A	3	168812921	168812921	C	A	MECOM	c.2962G>T	NM_004991.4	NP_004982.2:p.(Gly988Cys)	NC_000003.11:g.168812921C>A	VUS	1 lab	9774dc6dfd
1:94512478 ABCA4 G>T	1	94512478	94512478	G	T	ABCA4	c.2915C>A	NM_000350.2	NP_000341.2:p.(Thr972Asn)	NC_000001.10:g.94512478G>T	(Likely) pathogenic	1 lab	97764dbfce
19:42778228 CIC C>T	19	42778228	42778228	C	T	CIC	c.2293C>T	NM_001304815.2	NP_001291744.1:p.(Arg765Trp)	NC_000019.9:g.42778228C>T	VUS	1 lab	08e160b87e
19:38939099 RYR1 A>G	19	38939099	38939099	A	G	RYR1	c.905A>G	NM_000540.2	NP_000531.2:p.(Asp302Gly)	NC_000019.9:g.38939099A>G	VUS	1 lab	9781b2519a
5:176700735 NSD1 C>T	5	176700735	176700735	C	T	NSD1				NC_000005.9:g.176700735C>T	(Likely) pathogenic	1 lab	9781ec29d5
1:31439130 PUM1 G>C	1	31439130	31439130	G	C	PUM1	c.1790-5C>G	NM_001020658.2	NP_001018494.1:p.?	NC_000001.10:g.31439130G>C	(Likely) benign	1 lab	08e1690636
12:9007384 A2ML1 A>C	12	9007384	9007384	A	C	A2ML1	c.2721A>C	NM_144670.4	NP_653271.2:p.(Gly907=)	NC_000012.11:g.9007384A>C	(Likely) benign	1 lab	9784027d18
10:73434888 CDH23 G>C	10	73434888	73434888	G	C	CDH23	c.1469G>C	NM_022124.5	NP_071407.4:p.(Gly490Ala)	NC_000010.10:g.73434888G>C	(Likely) benign	1 lab	97846e7660
21:43803167 TMPRSS3 T>C	21	43803167	43803167	T	C	TMPRSS3	c.757A>G	NM_024022.4	NP_076927.1:p.(Ile253Val)	NC_000021.8:g.43803167T>C	(Likely) benign	1 lab	97858c0407
6:132190545 ENPP1 T>C	6	132190545	132190545	T	C	ENPP1	c.1321T>C	NM_006208.2	NP_006199.2:p.(Leu441=)	NC_000006.11:g.132190545T>C	(Likely) benign	1 lab	97869fedae
4:499568 PIGG C>T	4	499568	499568	C	T	PIGG	c.422C>T	NM_001127178.3	NP_001120650.1:p.(Ala141Val)	NC_000004.11:g.499568C>T	(Likely) benign	1 lab	0e76221335
6:65300832 EYS G>GAGGATAAAATTGTTCTTTTTGC	6	65300832	65300855	G	GAGGATAAAATTGTTCTTTTTGC	EYS	c.4906_4927dup	NM_001142800.2	NP_001136272.1:p.(Ser1643CysfsTer19)	NC_000006.11:g.65300834_65300855dup	(Likely) pathogenic	1 lab	979647ce69
9:135864484 GFI1B C>T	9	135864484	135864484	C	T	GFI1B	c.547C>T	NM_001377304.1	NP_001364233.1:p.(Arg183Ter)	NC_000009.11:g.135864484C>T	(Likely) pathogenic	1 lab	9797be0e08
6:65531629 EYS A>G	6	65531629	65531629	A	G	EYS	c.3165-13T>C	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65531629A>G	VUS	1 lab	9798531fe4
2:179413213 TTN C>T	2	179413213	179413213	C	T	TTN	c.93140G>A	NM_001267550.2	NP_001254479.2:p.(Arg31047Gln)	NC_000002.11:g.179413213C>T	VUS	1 lab	9799fea9af
20:43254242 ADA C>T	20	43254242	43254242	C	T	ADA	c.446G>A	NM_000022.4	NP_000013.2:p.(Arg149Gln)	NC_000020.10:g.43254242C>T	(Likely) pathogenic	1 lab	979a4be19b
10:121429680 BAG3 C>T	10	121429680	121429680	C	T	BAG3	c.498C>T	NM_004281.3	NP_004272.2:p.(His166=)	NC_000010.10:g.121429680C>T	(Likely) benign	1 lab	979a64ac9a
19:9069203 MUC16 GTC>G	19	9069203	9069205	GTC	G	MUC16	c.18361_18362del	NM_001401501.2	NP_001388430.1:p.(Asp6121GlnfsTer26)	NC_000019.9:g.9069204_9069205del	VUS	1 lab	979adf4289
X:53655838 HUWE1 A>T	X	53655838	53655838	A	T	HUWE1	c.979T>A	NM_031407.5	NP_113584.3:p.(Ser327Thr)	NC_000023.10:g.53655838A>T	(Likely) pathogenic	1 lab	979beb84ad
3:38927682 SCN11A A>C	3	38927682	38927682	A	C	SCN11A	c.2883T>G	NM_014139.2	NP_054858.2:p.(Val961=)	NC_000003.11:g.38927682A>C	(Likely) benign	1 lab	979dd9b18f
X:153648357 TAFAZZIN T>TC	X	153648357	153648363	T	TC	TAFAZZIN	c.584-8dup	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648363dup	(Likely) benign	1 lab	97a0d30e5d
17:41256213 BRCA1 A>T	17	41256213	41256213	A	T	BRCA1	c.367T>A	NM_007294.4	NP_009225.1:p.(Ser123Thr)	NC_000017.10:g.41256213A>T	VUS	1 lab	97a14021ee
9:123725971 C5 C>T	9	123725971	123725971	C	T	C5	c.4266G>A	NM_001735.3	NP_001726.2:p.(Ala1422=)	NC_000009.11:g.123725971C>T	(Likely) benign	1 lab	97a5067d02
14:102446289 DYNC1H1 G>A	14	102446289	102446289	G	A	DYNC1H1	c.752G>A	NM_001376.4	NP_001367.2:p.(Arg251His)	NC_000014.8:g.102446289G>A	(Likely) pathogenic	1 lab	97a5391f3f
3:38739130 SCN10A C>T	3	38739130	38739130	C	T	SCN10A	c.5581G>A	NM_006514.4	NP_006505.4:p.(Ala1861Thr)	NC_000003.11:g.38739130C>T	VUS	1 lab	97a6eb1465
9:136297779 ADAMTS13 C>T	9	136297779	136297779	C	T	ADAMTS13	c.1058C>T	NM_139027.6	NP_620596.2:p.(Pro353Leu)	NC_000009.11:g.136297779C>T	(Likely) pathogenic	1 lab	97a7f4b8a9
16:8898650 PMM2 C>T	16	8898650	8898650	C	T	PMM2	c.205C>T	NM_000303.2	NP_000294.1:p.(Pro69Ser)	NC_000016.9:g.8898650C>T	(Likely) pathogenic	1 lab	97a8a72fdf
1:94941244 ABCD3 T>C	1	94941244	94941244	T	C	ABCD3	c.578T>C	NM_002858.4	NP_002849.1:p.(Val193Ala)	NC_000001.10:g.94941244T>C	VUS	1 lab	97aa941070
2:136562472 LCT G>A	2	136562472	136562472	G	A	LCT	c.4329C>T	NM_002299.3	NP_002290.2:p.(Gly1443=)	NC_000002.11:g.136562472G>A	(Likely) benign	1 lab	97ac9d4295
12:12871050 CDKN1B C>T	12	12871050	12871050	C	T	CDKN1B	c.277C>T	NM_004064.4	NP_004055.1:p.(Arg93Trp)	NC_000012.11:g.12871050C>T	(Likely) benign	1 lab	0e78c2efe1
19:36486346 SDHAF1 G>A	19	36486346	36486346	G	A	SDHAF1	c.170G>A	NM_001042631.2	NP_001036096.1:p.(Gly57Glu)	NC_000019.9:g.36486346G>A	(Likely) pathogenic	1 lab	97ae51f36a
1:78392179 NEXN G>A	1	78392179	78392179	G	A	NEXN	c.570G>A	NM_144573.3	NP_653174.3:p.(Glu190=)	NC_000001.10:g.78392179G>A	VUS	1 lab	97b368f6f1
20:44594363 ZNF335 G>A	20	44594363	44594363	G	A	ZNF335	c.1006C>T	NM_022095.4	NP_071378.1:p.(Arg336Trp)	NC_000020.10:g.44594363G>A	VUS	1 lab	08e62c372f
14:105168012 INF2 T>C	14	105168012	105168012	T	C	INF2	c.310T>C	NM_022489.3	NP_071934.3:p.(Cys104Arg)	NC_000014.8:g.105168012T>C	(Likely) pathogenic	1 lab	97b4840cef
1:3328113 PRDM16 AC>A	1	3328113	3328114	AC	A	PRDM16	c.1353del	NM_022114.3	NP_071397.3:p.(Tyr451Ter)	NC_000001.10:g.3328114del	VUS	1 lab	97b5c97865
1:10363281 KIF1B C>G	1	10363281	10363281	C	G	KIF1B	c.2038C>G	NM_183416.3	NP_904325.2:p.(Leu680Val)	NC_000001.10:g.10363281C>G	VUS	1 lab	97b7cc14f6
10:94366412 KIF11 C>T	10	94366412	94366412	C	T	KIF11	c.247C>T	NM_004523.3	NP_004514.2:p.(Arg83Ter)	NC_000010.10:g.94366412C>T	(Likely) pathogenic	1 lab	97bc299d29
17:41247122 BRCA1 A>ACCT	17	41247122	41247125	A	ACCT	BRCA1	c.671-248_671-246dup	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247123_41247125dup	(Likely) benign	1 lab	97bd478c50
6:129588279 LAMA2 A>G	6	129588279	129588279	A	G	LAMA2	c.2237A>G	NM_000426.3	NP_000417.2:p.(Asn746Ser)	NC_000006.11:g.129588279A>G	VUS	1 lab	97bf73c038
14:23889143 MYH7 C>T	14	23889143	23889143	C	T	MYH7	c.3637G>A	NM_000257.2	NP_000248.2:p.(Val1213Met)	NC_000014.8:g.23889143C>T	VUS	1 lab	97bff65776
7:42005073 GLI3 G>C	7	42005073	42005073	G	C	GLI3	c.3598C>G	NM_000168.6	NP_000159.3:p.(His1200Asp)	NC_000007.13:g.42005073G>C	(Likely) benign	1 lab	0e78f0478e
6:157099913 ARID1B C>T	6	157099913	157099913	C	T	ARID1B	c.850C>T	NM_020732.3	NP_065783.3:p.(Gln284Ter)	NC_000006.11:g.157099913C>T	(Likely) pathogenic	1 lab	97dc354ce1
8:10467589 RP1L1 T>TGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG	8	10467589	10467590	T	TGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG	RP1L1	c.4018_4019insCCTCTAACTGCACCCCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTCC	NM_178857.5	NP_849188.4:p.(Glu1340delinsAlaSerAsnCysThrProSerSerCysSerProSerSerValLeuValGln)	NC_000008.10:g.10467589_10467590insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG	(Likely) benign	1 lab	97c16243a3
21:47535805 COL6A2 G>A	21	47535805	47535805	G	A	COL6A2	c.821G>A	NM_001849.3	NP_001840.3:p.(Gly274Asp)	NC_000021.8:g.47535805G>A	(Likely) pathogenic	1 lab	97c41aaef6
11:108139303 ATM G>A	11	108139303	108139303	G	A	ATM	c.2805G>A	NM_000051.3	NP_000042.3:p.(Thr935=)	NC_000011.9:g.108139303G>A	(Likely) benign	1 lab	97c5b24a68
21:46327026 ITGB2 C>A	21	46327026	46327026	C	A	ITGB2	c.148-16G>T	NM_000211.4	NP_000202.3:p.?	NC_000021.8:g.46327026C>A	(Likely) benign	1 lab	97cb03c5b2
6:170866340 TBP G>A	6	170866340	170866340	G	A	TBP	c.54+169G>A	NM_003194.5	NP_003185.1:p.?	NC_000006.11:g.170866340G>A	(Likely) benign	1 lab	0e7c61ea07
2:32341265 SPAST C>T	2	32341265	32341265	C	T	SPAST	c.1082C>T	NM_014946.4	NP_055761.2:p.(Pro361Leu)	NC_000002.11:g.32341265C>T	(Likely) pathogenic	1 lab	97d2d0b73d
16:2152651 PKD1 T>C	16	2152651	2152651	T	C	PKD1	c.8949-17A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2152651T>C	(Likely) benign	1 lab	97d51b1216
8:38272089 FGFR1 T>C	8	38272089	38272089	T	C	FGFR1	c.2036A>G	NM_023110.3	NP_075598.2:p.(His679Arg)	NC_000008.10:g.38272089T>C	VUS	1 lab	97d559d723
12:6443277 TNFRSF1A C>G	12	6443277	6443277	C	G	TNFRSF1A	c.173G>C	NM_001065.3	NP_001056.1:p.(Cys58Ser)	NC_000012.11:g.6443277C>G	(Likely) pathogenic	1 lab	0e7ccc121f
15:68521910 CLN6 G>A	15	68521910	68521910	G	A	CLN6	c.13C>T	NM_017882.3	NP_060352.1:p.(Arg5Trp)	NC_000015.9:g.68521910G>A	VUS	1 lab	a2bb1a5c25
9:126133732 CRB2 C>T	9	126133732	126133732	C	T	CRB2	c.2311C>T	NM_173689.6	NP_775960.4:p.(Arg771Ter)	NC_000009.11:g.126133732C>T	(Likely) pathogenic	1 lab	97db6529a7
12:32949028 PKP2 A>AG	12	32949028	32949029	A	AG	PKP2	c.2489+14_2489+15insC	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32949028_32949029insG	(Likely) benign	1 lab	97dc1f02d3
19:48342994 CRX C>T	19	48342994	48342994	C	T	CRX	c.670C>T	NM_000554.6	NP_000545.1:p.(Pro224Ser)	NC_000019.9:g.48342994C>T	VUS	1 lab	97dd045475
6:1611080 FOXC1 G>T	6	1611080	1611080	G	T	FOXC1	c.400G>T	NM_001453.2	NP_001444.2:p.(Glu134Ter)	NC_000006.11:g.1611080G>T	(Likely) pathogenic	1 lab	97de388e78
18:42529996 SETBP1 G>C	18	42529996	42529996	G	C	SETBP1	c.691G>C	NM_015559.3	NP_056374.2:p.(Val231Leu)	NC_000018.9:g.42529996G>C	(Likely) benign	1 lab	08e8efde0d
13:32913635 BRCA2 T>C	13	32913635	32913635	T	C	BRCA2	c.5143T>C	NM_000059.3	NP_000050.2:p.(Leu1715=)	NC_000013.10:g.32913635T>C	(Likely) benign	1 lab	97e32c9d64
18:48593581 SMAD4 A>G	18	48593581	48593581	A	G	SMAD4	c.1308+24A>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48593581A>G	(Likely) benign	1 lab	97e3846e2e
21:47409017 COL6A1 G>A	21	47409017	47409017	G	A	COL6A1	c.824G>A	NM_001848.2	NP_001839.2:p.(Gly275Glu)	NC_000021.8:g.47409017G>A	(Likely) pathogenic	1 lab	97e5c22ad8
X:153455652 OPN1MW T>C	X	153455652	153455652	T	C	OPN1MW	c.519T>C	NM_000513.2	NP_000504.1:p.(Ile173=)	NC_000023.10:g.153455652T>C	VUS	1 lab	97eccc7137
10:102510587 PAX2 C>T	10	102510587	102510587	C	T	PAX2	c.349C>T	NM_003989.5	NP_003980.3:p.(Arg117Trp)	NC_000010.10:g.102510587C>T	VUS	1 lab	97ee93c35b
16:67644726 CTCF G>A	16	67644726	67644726	G	A	CTCF	c.-9-1G>A	NM_006565.3	NP_006556.1:p.?	NC_000016.9:g.67644726G>A	VUS	1 lab	97f1beeb6b
11:128781784 KCNJ5 G>A	11	128781784	128781784	G	A	KCNJ5	c.616G>A	NM_001354169.1	NP_001341098.1:p.(Ala206Thr)	NC_000011.9:g.128781784G>A	VUS	1 lab	97f36e367a
6:32940554 BRD2 G>C	6	32940554	32940554	G	C	BRD2	c.-122G>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32940554G>C	(Likely) benign	1 lab	0e7d704fa2
1:241675255 FH T>C	1	241675255	241675255	T	C	FH	c.555+12A>G	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241675255T>C	(Likely) benign	1 lab	97f9790fe6
9:98268823 PTCH1 AAG>A	9	98268823	98268827	AAG	A	PTCH1	c.258_259del	NM_000264.3	NP_000255.2:p.(Leu87IlefsTer2)	NC_000009.11:g.98268826_98268827del	(Likely) pathogenic	1 lab	97f9ba6ae6
11:57382031 SERPING1 C>T	11	57382031	57382031	C	T	SERPING1	c.1480C>T	NM_000062.2	NP_000053.2:p.(Arg494Ter)	NC_000011.9:g.57382031C>T	(Likely) pathogenic	1 lab	0e7e5f387b
21:38853040 DYRK1A A>G	21	38853040	38853040	A	G	DYRK1A				NC_000021.8:g.38853040A>G	(Likely) pathogenic	1 lab	990f321ca1
X:107824005 COL4A5 A>G	X	107824005	107824005	A	G	COL4A5	c.891+37A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107824005A>G	(Likely) benign	1 lab	97fd0bc952
19:15989676 CYP4F2 G>A	19	15989676	15989676	G	A	CYP4F2	c.1468C>T	NM_001082.5	NP_001073.3:p.(Arg490Cys)	NC_000019.9:g.15989676G>A	VUS	1 lab	08eaefba36
7:99704100 AP4M1 G>A	7	99704100	99704100	G	A	AP4M1	c.1100G>A	NM_004722.3	NP_004713.2:p.(Arg367Gln)	NC_000007.13:g.99704100G>A	VUS	1 lab	98001ffdb3
2:166003397 SCN3A T>C	2	166003397	166003397	T	C	SCN3A	c.1523A>G	NM_006922.4	NP_008853.3:p.(Gln508Arg)	NC_000002.11:g.166003397T>C	(Likely) benign	1 lab	9800ca2f79
5:37020651 NIPBL T>C	5	37020651	37020651	T	C	NIPBL	c.5101T>C	NM_133433.4	NP_597677.2:p.(Ser1701Pro)	NC_000005.9:g.37020651T>C	(Likely) benign	1 lab	08ebfb7604
2:167055856 SCN9A C>A	2	167055856	167055856	C	A	SCN9A	c.5260G>T	NM_002977.3	NP_002968.1:p.(Val1754Phe)	NC_000002.11:g.167055856C>A	(Likely) pathogenic	1 lab	980653e1d2
1:74948951 TNNI3K A>G	1	74948951	74948951	A	G	TNNI3K	c.2122-5922A>G	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74948951A>G	(Likely) benign	1 lab	98098d30c6
11:118345032 KMT2A T>A	11	118345032	118345032	T	A	KMT2A	c.3156+2T>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118345032T>A	(Likely) pathogenic	1 lab	980cb85b5d
17:39925377 JUP T>G	17	39925377	39925377	T	G	JUP	c.551A>C	NM_002230.3	NP_002221.1:p.(Gln184Pro)	NC_000017.10:g.39925377T>G	VUS	1 lab	98116261f4
5:112173668 APC C>T	5	112173668	112173668	C	T	APC	c.2377C>T	NM_000038.6	NP_000029.2:p.(Gln793Ter)	NC_000005.9:g.112173668C>T	(Likely) pathogenic	1 lab	9811dda960
14:20943083 PNP C>T	14	20943083	20943083	C	T	PNP	c.437C>T	NM_000270.3	NP_000261.2:p.(Pro146Leu)	NC_000014.8:g.20943083C>T	(Likely) pathogenic	1 lab	9812f19a45
2:179463641 TTN C>G	2	179463641	179463641	C	G	TTN	c.56796G>C	NM_001267550.2	NP_001254479.2:p.(Lys18932Asn)	NC_000002.11:g.179463641C>G	(Likely) benign	1 lab	981351814d
5:137028029 KLHL3 T>C	5	137028029	137028029	T	C	KLHL3	c.471A>G	NM_017415.2	NP_059111.2:p.(Ala157=)	NC_000005.9:g.137028029T>C	(Likely) benign	1 lab	9813975ddc
12:49445292 KMT2D AG>A	12	49445292	49445296	AG	A	KMT2D	c.2173del	NM_003482.4	NP_003473.3:p.(Leu725CysfsTer205)	NC_000012.11:g.49445296del	(Likely) pathogenic	1 lab	9813dc7c54
2:179474226 TTN T>A	2	179474226	179474226	T	A	TTN	c.51811A>T	NM_001267550.2	NP_001254479.2:p.(Ile17271Phe)	NC_000002.11:g.179474226T>A	VUS	1 lab	98165c1e2d
2:39278349 SOS1 A>G	2	39278349	39278349	A	G	SOS1	c.800T>C	NM_005633.4	NP_005624.2:p.(Val267Ala)	NC_000002.11:g.39278349A>G	VUS	1 lab	981d982744
2:230670505 TRIP12 T>TCCTCA	2	230670505	230670510	T	TCCTCA	TRIP12	c.2505_2509dup	NM_001284214.2	NP_001271143.1:p.(Asp837ValfsTer17)	NC_000002.11:g.230670506_230670510dup	(Likely) pathogenic	1 lab	08ec00cf6f
22:29091246 CHEK2 G>C	22	29091246	29091246	G	C	CHEK2	c.1260-16C>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29091246G>C	(Likely) benign	1 lab	982500903a
15:31197362 FAN1 G>C	15	31197362	31197362	G	C	FAN1	c.496G>C	NM_014967.4	NP_055782.3:p.(Ala166Pro)	NC_000015.9:g.31197362G>C	VUS	1 lab	982580eba4
2:167327178 SCN7A G>A	2	167327178	167327178	G	A	SCN7A	c.611C>T	NM_002976.4	NP_002967.2:p.(Thr204Met)	NC_000002.11:g.167327178G>A	(Likely) benign	1 lab	9825b9b873
2:166893011 SCN1A C>A	2	166893011	166893011	C	A	SCN1A	c.2976G>T	NM_001165963.1	NP_001159435.1:p.(Leu992=)	NC_000002.11:g.166893011C>A	(Likely) benign	1 lab	9826713a77
5:161510672 GABRG2 G>GT	5	161510672	161510679	G	GT	GABRG2	c.108-10155dup	NM_198904.3	NP_944494.1:p.?	NC_000005.9:g.161510679dup	(Likely) benign	1 lab	0e8144b39a
5:37165888 CPLANE1 A>G	5	37165888	37165888	A	G	CPLANE1	c.7401-115T>C	NM_023073.3	NP_075561.3:p.?	NC_000005.9:g.37165888A>G	(Likely) benign	1 lab	0e846b247a
6:16286051 GMPR G>A	6	16286051	16286051	G	A	GMPR	c.682G>A	NM_006877.4	NP_006868.3:p.(Val228Ile)	NC_000006.11:g.16286051G>A	VUS	1 lab	98284794bc
19:1622297 TCF3 C>T	19	1622297	1622297	C	T	TCF3	c.652+15G>A	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1622297C>T	(Likely) benign	1 lab	0e87f2e5d9
16:75579247 TMEM231 T>C	16	75579247	75579247	T	C	TMEM231	c.741+3A>G	NM_001077416.2	NP_001070884.2:p.?	NC_000016.9:g.75579247T>C	(Likely) benign	1 lab	0e8cb8776f
19:1221920 STK11 G>C	19	1221920	1221920	G	C	STK11	c.863-28G>C	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1221920G>C	(Likely) benign	1 lab	982e2c8f88
11:65423234 RELA C>T	11	65423234	65423234	C	T	RELA	c.959-1G>A	NM_021975.4	NP_068810.3:p.?	NC_000011.9:g.65423234C>T	(Likely) pathogenic	1 lab	9834075860
1:228404335 OBSCN G>A	1	228404335	228404335	G	A	OBSCN	c.2309G>A	NM_001271223.2	NP_001258152.2:p.(Arg770Gln)	NC_000001.10:g.228404335G>A	(Likely) benign	1 lab	983657f43e
3:48609571 COL7A1 G>A	3	48609571	48609571	G	A	COL7A1	c.7012C>T	NM_000094.3	NP_000085.1:p.(Arg2338Ter)	NC_000003.11:g.48609571G>A	(Likely) pathogenic	1 lab	9836fa1b0a
10:121429549 BAG3 C>T	10	121429549	121429549	C	T	BAG3	c.367C>T	NM_004281.4	NP_004272.2:p.(Arg123Ter)	NC_000010.10:g.121429549C>T	(Likely) pathogenic	1 lab	98374303dc
X:53644344 MISSING T>C	X	53644344	53644344	T	C	MISSING				NC_000023.10:g.53644344T>C	VUS	1 lab	983f4edff8
9:129455576 LMX1B G>T	9	129455576	129455576	G	T	LMX1B	c.715G>T	NM_002316.3	NP_002307.2:p.(Glu239Ter)	NC_000009.11:g.129455576G>T	(Likely) pathogenic	1 lab	984024d54f
12:6134769 VWF C>T	12	6134769	6134769	C	T	VWF	c.3199G>A	NM_000552.3	NP_000543.2:p.(Val1067Ile)	NC_000012.11:g.6134769C>T	(Likely) benign	1 lab	9843322d1b
X:70607141 TAF1 A>G	X	70607141	70607141	A	G	TAF1	c.2257A>G	NM_004606.5	NP_004597.3:p.(Ile753Val)	NC_000023.10:g.70607141A>G	(Likely) benign	1 lab	9843da12df
10:50690849 ERCC6 G>C	10	50690849	50690849	G	C	ERCC6	c.2053C>G	NM_000124.4	NP_000115.1:p.(Leu685Val)	NC_000010.10:g.50690849G>C	VUS	1 lab	08ec4705b9
11:86662536 FZD4 T>G	11	86662536	86662536	T	G	FZD4	c.1262A>C	NM_012193.3	NP_036325.2:p.(Gln421Pro)	NC_000011.9:g.86662536T>G	(Likely) benign	1 lab	984631c894
16:23200923 SCNN1G C>A	16	23200923	23200923	C	A	SCNN1G	c.549C>A	NM_001039.4	NP_001030.2:p.(Gly183=)	NC_000016.9:g.23200923C>A	(Likely) benign	1 lab	0e8d843876
2:215846952 ABCA12 G>C	2	215846952	215846952	G	C	ABCA12	c.4538C>G	NM_173076.2	NP_775099.2:p.(Ser1513Cys)	NC_000002.11:g.215846952G>C	(Likely) pathogenic	1 lab	984d92c227
7:92730994 SAMD9 G>A	7	92730994	92730994	G	A	SAMD9	c.4417C>T	NM_017654.3	NP_060124.2:p.(Arg1473Cys)	NC_000007.13:g.92730994G>A	VUS	1 lab	984e5cf44d
20:62044824 KCNQ2 C>A	20	62044824	62044824	C	A	KCNQ2	c.1742G>T	NM_172107.2	NP_742105.1:p.(Arg581Leu)	NC_000020.10:g.62044824C>A	(Likely) pathogenic	1 lab	9851f11929
17:29554607 NF1 A>T	17	29554607	29554607	A	T	NF1	c.2392A>T	NM_001042492.3	NP_001035957.1:p.(Lys798Ter)	NC_000017.10:g.29554607A>T	(Likely) pathogenic	1 lab	9851f55659
5:113697723 KCNN2 G>T	5	113697723	113697723	G	T	KCNN2	c.85G>T	NM_001372233.1	NP_001359162.1:p.(Gly29Ter)	NC_000005.9:g.113697723G>T	VUS	1 lab	08ecce0c35
19:18897368 COMP A>T	19	18897368	18897368	A	T	COMP	c.1228T>A	NM_000095.3	NP_000086.2:p.(Cys410Ser)	NC_000019.9:g.18897368A>T	(Likely) pathogenic	1 lab	985aa609e5
19:38955314 RYR1 C>T	19	38955314	38955314	C	T	RYR1	c.2822C>T	NM_000540.2	NP_000531.2:p.(Ala941Val)	NC_000019.9:g.38955314C>T	VUS	1 lab	985ac1a113
1:228402508 OBSCN C>T	1	228402508	228402508	C	T	OBSCN	c.1537C>T	NM_052843.4	NP_443075.3:p.(Leu513=)	NC_000001.10:g.228402508C>T	(Likely) benign	1 lab	08ed2142d0
3:151154499 MED12L GC>G	3	151154499	151154500	GC	G	MED12L				NC_000003.11:g.151154500del	VUS	1 lab	985fa0489d
5:149503861 PDGFRB C>T	5	149503861	149503861	C	T	PDGFRB	c.1975G>A	NM_002609.4	NP_002600.1:p.(Gly659Arg)	NC_000005.9:g.149503861C>T	VUS	1 lab	08ee217ffd
17:7099645 DLG4 G>A	17	7099645	7099645	G	A	DLG4	c.1324C>T	NM_001365.4	NP_001356.1:p.(Arg442Ter)	NC_000017.10:g.7099645G>A	(Likely) pathogenic	1 lab	08eee6f347
21:44590630 CRYAA C>T	21	44590630	44590630	C	T	CRYAA	c.193C>T	NM_000394.2	NP_000385.1:p.(Arg65Ter)	NC_000021.8:g.44590630C>T	(Likely) pathogenic	1 lab	9861451abc
5:179192510 MAML1 CCTT>C	5	179192510	179192515	CCTT	C	MAML1	c.502_504del	NM_014757.5	NP_055572.1:p.(Ser168del)	NC_000005.9:g.179192513_179192515del	VUS	1 lab	08f0871b0c
7:127251731 PAX4 C>T	7	127251731	127251731	C	T	PAX4	c.748-1G>A	NM_006193.2	NP_006184.2:p.?	NC_000007.13:g.127251731C>T	(Likely) pathogenic	1 lab	986649c6d1
16:15865464 MYH11 G>C	16	15865464	15865464	G	C	MYH11	c.1016C>G	NM_001040113.1	NP_001035202.1:p.(Ala339Gly)	NC_000016.9:g.15865464G>C	VUS	1 lab	986b48235b
9:127262646 NR5A1 G>A	9	127262646	127262646	G	A	NR5A1	c.593C>T	NM_004959.5	NP_004950.2:p.(Pro198Leu)	NC_000009.11:g.127262646G>A	VUS	1 lab	986b8bc9cb
12:48389056 COL2A1 AG>A	12	48389056	48389061	AG	A	COL2A1				NC_000012.11:g.48389061del	(Likely) pathogenic	1 lab	986c2b13f9
16:89352516 ANKRD11 T>TG	16	89352516	89352518	T	TG	ANKRD11	c.822dup	NM_013275.6	NP_037407.4:p.(Asn275GlnfsTer74)	NC_000016.9:g.89352518dup	(Likely) pathogenic	1 lab	987094d5d5
4:39280428 WDR19 AT>A	4	39280428	39280436	AT	A	WDR19	c.*13+153del	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39280436del	(Likely) benign	1 lab	0e8da92873
8:61654685 CHD7 C>A	8	61654685	61654685	C	A	CHD7				NC_000008.10:g.61654685C>A	(Likely) benign	1 lab	9875382fba
6:7579841 DSP G>A	6	7579841	7579841	G	A	DSP	c.3418G>A	NM_004415.4	NP_004406.2:p.(Asp1140Asn)	NC_000006.11:g.7579841G>A	VUS	1 lab	08f09a1468
9:117266738 WHRN T>C	9	117266738	117266738	T	C	WHRN				NC_000009.11:g.117266738T>C	VUS	1 lab	987f399634
19:39076577 RYR1 G>A	19	39076577	39076577	G	A	RYR1	c.14804-1G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39076577G>A	(Likely) pathogenic	1 lab	98800ef0ba
14:67390866 GPHN G>A	14	67390866	67390866	G	A	GPHN	c.730-45G>A	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67390866G>A	(Likely) benign	1 lab	0e8e4fb905
5:112175328 APC C>G	5	112175328	112175328	C	G	APC	c.4037C>G	NM_000038.6	NP_000029.2:p.(Ser1346Ter)	NC_000005.9:g.112175328C>G	(Likely) pathogenic	1 lab	9881896faf
3:123166538 ADCY5 A>AG	3	123166538	123166539	A	AG	ADCY5	c.854dup	NM_183357.2	NP_899200.1:p.(Val286CysfsTer42)	NC_000003.11:g.123166539dup	(Likely) benign	1 lab	98832c52e4
1:152281479 FLG G>T	1	152281479	152281479	G	T	FLG	c.5883C>A	NM_002016.1	NP_002007.1:p.(His1961Gln)	NC_000001.10:g.152281479G>T	(Likely) benign	1 lab	9884995519
22:51169292 SHANK3 C>A	22	51169292	51169292	C	A	SHANK3	c.4973C>A	NM_001372044.2	NP_001358973.1:p.(Ser1658Ter)	NC_000022.10:g.51169292C>A	(Likely) pathogenic	1 lab	9887274e7d
14:103394747 AMN C>T	14	103394747	103394747	C	T	AMN	c.208-16C>T	NM_030943.3	NP_112205.2:p.?	NC_000014.8:g.103394747C>T	(Likely) benign	1 lab	0e91fe8412
7:100230864 TFR2 G>C	7	100230864	100230864	G	C	TFR2	c.714C>G	NM_003227.3	NP_003218.2:p.(Ile238Met)	NC_000007.13:g.100230864G>C	(Likely) benign	1 lab	9889cb7e26
2:167160605 SCN9A G>C	2	167160605	167160605	G	C	SCN9A				NC_000002.11:g.167160605G>C	(Likely) benign	1 lab	988a5d6c30
1:103428307 COL11A1 C>T	1	103428307	103428307	C	T	COL11A1	c.2926G>A	NM_001854.3	NP_001845.3:p.(Gly976Ser)	NC_000001.10:g.103428307C>T	VUS	1 lab	988c6578a1
11:108143584 ATM T>C	11	108143584	108143584	T	C	ATM	c.3284+5T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108143584T>C	(Likely) benign	1 lab	9890dfcf10
X:41333257 NYX T>G	X	41333257	41333257	T	G	NYX	c.536T>G	NM_022567.3	NP_072089.2:p.(Leu179Arg)	NC_000023.10:g.41333257T>G	VUS	1 lab	98920dc390
17:62574696 SMURF2 T>C	17	62574696	62574696	T	C	SMURF2	c.773-2A>G	NM_022739.3	NP_073576.1:p.?	NC_000017.10:g.62574696T>C	VUS	1 lab	9893d53755
4:119631450 METTL14 C>G	4	119631450	119631450	C	G	METTL14	c.1364C>G	NM_020961.2	NP_066012.1:p.(Pro455Arg)	NC_000004.11:g.119631450C>G	VUS	1 lab	9893fc5960
2:166905453 SCN1A T>G	2	166905453	166905453	T	G	SCN1A	c.971A>C	NM_001165963.4	NP_001159435.1:p.(His324Pro)	NC_000002.11:g.166905453T>G	(Likely) pathogenic	1 lab	98964182a3
7:24746007 GSDME GGAA>G	7	24746007	24746017	GGAA	G	GSDME	c.991-15_991-13del	NM_001127453.2	NP_001120925.1:p.?	NC_000007.13:g.24746015_24746017del	(Likely) pathogenic	1 lab	9897712fce
17:59763395 BRIP1 G>A	17	59763395	59763395	G	A	BRIP1	c.2707C>T	NM_032043.2	NP_114432.2:p.(Gln903Ter)	NC_000017.10:g.59763395G>A	VUS	1 lab	9899dcbdd0
2:179504486 TTN C>T	2	179504486	179504486	C	T	TTN	c.40816G>A	NM_001267550.2	NP_001254479.2:p.(Glu13606Lys)	NC_000002.11:g.179504486C>T	(Likely) benign	1 lab	989a469034
12:52965761 KRT74 C>T	12	52965761	52965761	C	T	KRT74	c.714G>A	NM_175053.4	NP_778223.2:p.(Thr238=)	NC_000012.11:g.52965761C>T	(Likely) benign	1 lab	08f24d2a97
X:41196660 DDX3X G>A	X	41196660	41196660	G	A	DDX3X	c.46-1G>A	NM_001193416.3	NP_001180345.1:p.?	NC_000023.10:g.41196660G>A	(Likely) pathogenic	1 lab	08f3c2b8b5
X:30736735 GK T>C	X	30736735	30736735	T	C	GK	c.1054+2T>C	NM_001205019.2	NP_001191948.1:p.?	NC_000023.10:g.30736735T>C	(Likely) pathogenic	1 lab	989f861323
18:29102122 DSG2 C>A	18	29102122	29102122	C	A	DSG2	c.600C>A	NM_001943.4	NP_001934.2:p.(Ile200=)	NC_000018.9:g.29102122C>A	(Likely) benign	1 lab	98a3a9f51b
12:52115523 SCN8A G>C	12	52115523	52115523	G	C	SCN8A	c.1829G>C	NM_014191.4	NP_055006.1:p.(Arg610Pro)	NC_000012.11:g.52115523G>C	VUS	1 lab	98a6f08477
22:36716377 MYH9 G>C	22	36716377	36716377	G	C	MYH9	c.900C>G	NM_002473.5	NP_002464.1:p.(Tyr300Ter)	NC_000022.10:g.36716377G>C	VUS	1 lab	98a8be7f0b
3:186299232 DNAJB11 AC>A	3	186299232	186299234	AC	A	DNAJB11	c.531del	NM_016306.6	NP_057390.1:p.(Thr178ProfsTer10)	NC_000003.11:g.186299234del	(Likely) pathogenic	1 lab	0e9503c7c1
13:32936810 BRCA2 G>A	13	32936810	32936810	G	A	BRCA2	c.7956G>A	NM_000059.3	NP_000050.2:p.(Val2652=)	NC_000013.10:g.32936810G>A	(Likely) benign	1 lab	98b0f7dcd9
X:107846251 COL4A5 T>TA	X	107846251	107846252	T	TA	COL4A5	c.2205dup	NM_033380.3	NP_203699.1:p.(Glu736ArgfsTer15)	NC_000023.10:g.107846252dup	(Likely) pathogenic	1 lab	98b3acd127
4:996118 IDUA TC>T	4	996118	996120	TC	T	IDUA	c.1036del	NM_000203.5	NP_000194.2:p.(Leu346Ter)	NC_000004.11:g.996120del	(Likely) pathogenic	1 lab	08f432ace6
1:152278277 FLG G>A	1	152278277	152278277	G	A	FLG	c.9085C>T	NM_002016.2	NP_002007.1:p.(Gln3029Ter)	NC_000001.10:g.152278277G>A	(Likely) pathogenic	1 lab	98b5db880c
17:78311508 RNF213 G>A	17	78311508	78311508	G	A	RNF213	c.4650G>A	NM_001256071.3	NP_001243000.2:p.(Ala1550=)	NC_000017.10:g.78311508G>A	(Likely) benign	1 lab	08f6fd7020
14:23282339 SLC7A7 T>A	14	23282339	23282339	T	A	SLC7A7	c.269A>T	NM_001126106.2	NP_001119578.1:p.(Tyr90Phe)	NC_000014.8:g.23282339T>A	VUS	1 lab	98bde64d50
20:3065320 AVP T>C	20	3065320	3065320	T	C	AVP	c.1A>G	NM_000490.4	NP_000481.2:p.(Met1?)	NC_000020.10:g.3065320T>C	(Likely) pathogenic	1 lab	98cc40274e
2:135887600 RAB3GAP1 C>T	2	135887600	135887600	C	T	RAB3GAP1	c.1009C>T	NM_001172435.1	NP_001165906.1:p.(Arg337Ter)	NC_000002.11:g.135887600C>T	(Likely) pathogenic	1 lab	98cfbf5c99
2:32368485 SPAST G>A	2	32368485	32368485	G	A	SPAST	c.1616+1G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32368485G>A	(Likely) pathogenic	1 lab	98d1677912
6:47576960 CD2AP GA>G	6	47576960	47576968	GA	G	CD2AP	c.1742del	NM_012120.3	NP_036252.1:p.(Asn581IlefsTer17)	NC_000006.11:g.47576968del	(Likely) pathogenic	1 lab	0e9fcf84eb
3:58080602 FLNB A>G	3	58080602	58080602	A	G	FLNB	c.827A>G	NM_001457.3	NP_001448.2:p.(Lys276Arg)	NC_000003.11:g.58080602A>G	VUS	1 lab	98d3358e56
22:19898985 TXNRD2 A>T	22	19898985	19898985	A	T	TXNRD2	c.592-15T>A	NM_001282512.3	NP_001269441.1:p.?	NC_000022.10:g.19898985A>T	(Likely) benign	1 lab	38935f44c4
8:119123168 EXT1 GTTC>G	8	119123168	119123175	GTTC	G	EXT1	c.115_117del	NM_000127.3	NP_000118.2:p.(Glu39del)	NC_000008.10:g.119123173_119123175del	VUS	1 lab	08fe9230d8
20:34081286 MISSING C>T	20	34081286	34081286	C	T	MISSING				NC_000020.10:g.34081286C>T	VUS	1 lab	98d7ae623b
16:4940928 PPL G>A	16	4940928	4940928	G	A	PPL	c.1969-6C>T	NM_002705.5	NP_002696.4:p.?	NC_000016.9:g.4940928G>A	(Likely) benign	1 lab	0906d95486
11:47354184 MYBPC3 A>G	11	47354184	47354184	A	G	MYBPC3	c.3560T>C	NM_000256.3	NP_000247.2:p.(Leu1187Pro)	NC_000011.9:g.47354184A>G	VUS	1 lab	98daeeb757
11:118344876 KMT2A A>G	11	118344876	118344876	A	G	KMT2A	c.3002A>G	NM_001197104.1	NP_001184033.1:p.(His1001Arg)	NC_000011.9:g.118344876A>G	VUS	1 lab	98dc6a0c0c
5:61642959 KIF2A C>T	5	61642959	61642959	C	T	KIF2A	c.67C>T	NM_001098511.3	NP_001091981.1:p.(Arg23Ter)	NC_000005.9:g.61642959C>T	(Likely) pathogenic	1 lab	98dfbb0b1c
19:42373298 RPS19 G>A	19	42373298	42373298	G	A	RPS19	c.356+14G>A	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42373298G>A	(Likely) benign	1 lab	0908a0e3fd
17:48653277 CACNA1G A>G	17	48653277	48653277	A	G	CACNA1G	c.1514A>G	NM_018896.5	NP_061496.2:p.(Tyr505Cys)	NC_000017.10:g.48653277A>G	VUS	1 lab	98e5a35eeb
2:225738790 DOCK10 T>C	2	225738790	225738790	T	C	DOCK10	c.1180A>G	NM_014689.2	NP_055504.2:p.(Ile394Val)	NC_000002.11:g.225738790T>C	(Likely) benign	1 lab	98e93a9857
21:47407573 COL6A1 G>A	21	47407573	47407573	G	A	COL6A1				NC_000021.8:g.47407573G>A	VUS	1 lab	98ea447fed
15:57525040 TCF12 C>A	15	57525040	57525040	C	A	TCF12	c.956C>A	NM_207036.1	NP_996919.1:p.(Ser319Ter)	NC_000015.9:g.57525040C>A	(Likely) pathogenic	1 lab	98f0c22ef5
15:54306742 UNC13C C>T	15	54306742	54306742	C	T	UNC13C	c.1642C>T	NM_001080534.1	NP_001074003.1:p.(Arg548Cys)	NC_000015.9:g.54306742C>T	VUS	1 lab	98f1f4874f
18:44065110 LOXHD1 G>T	18	44065110	44065110	G	T	LOXHD1	c.5868C>A	NM_144612.6	NP_653213.6:p.(Tyr1956Ter)	NC_000018.9:g.44065110G>T	(Likely) pathogenic	1 lab	98f5e7f440
12:80714318 OTOGL G>A	12	80714318	80714318	G	A	OTOGL	c.3892G>A	NM_173591.3	NP_775862.3:p.(Ala1298Thr)	NC_000012.11:g.80714318G>A	VUS	1 lab	98f7516e44
14:21813304 RPGRIP1 C>T	14	21813304	21813304	C	T	RPGRIP1	c.3565C>T	NM_020366.3	NP_065099.3:p.(Arg1189Ter)	NC_000014.8:g.21813304C>T	(Likely) pathogenic	1 lab	98f83cfcf0
6:7572306 DSP G>T	6	7572306	7572306	G	T	DSP	c.2130+5G>T	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7572306G>T	(Likely) benign	1 lab	09091c5986
3:38908811 SCN11A T>C	3	38908811	38908811	T	C	SCN11A	c.3951+1A>G	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38908811T>C	(Likely) benign	1 lab	99024bf8a1
3:193355090 OPA1 T>C	3	193355090	193355090	T	C	OPA1	c.1035+20T>C	NM_130837.3	NP_570850.2:p.?	NC_000003.11:g.193355090T>C	(Likely) benign	1 lab	090bba266d
11:101374982 TRPC6 G>A	11	101374982	101374982	G	A	TRPC6	c.718C>T	NM_004621.5	NP_004612.2:p.(Arg240Trp)	NC_000011.9:g.101374982G>A	VUS	1 lab	99030b6652
2:179415874 TTN G>A	2	179415874	179415874	G	A	TTN	c.91384C>T	NM_001267550.2	NP_001254479.2:p.(Arg30462Trp)	NC_000002.11:g.179415874G>A	VUS	1 lab	9905ec6b15
X:23412264 PTCHD1 G>A	X	23412264	23412264	G	A	PTCHD1	c.2629G>A	NM_173495.2	NP_775766.2:p.(Asp877Asn)	NC_000023.10:g.23412264G>A	VUS	1 lab	9908a5062a
11:551829 LRRC56 T>C	11	551829	551829	T	C	LRRC56	c.973+2T>C	NM_198075.4	NP_932341.1:p.?	NC_000011.9:g.551829T>C	(Likely) pathogenic	1 lab	17ee994be7
21:47402546 COL6A1 A>G	21	47402546	47402546	A	G	COL6A1	c.98-2A>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47402546A>G	(Likely) pathogenic	1 lab	990d34fa68
5:112162813 APC C>T	5	112162813	112162813	C	T	APC	c.1417C>T	NM_000038.5	NP_000029.2:p.(Gln473Ter)	NC_000005.9:g.112162813C>T	(Likely) pathogenic	1 lab	990dd69f27
1:228547598 OBSCN G>A	1	228547598	228547598	G	A	OBSCN	c.19005G>A	NM_052843.4	NP_443075.3:p.(Arg6335=)	NC_000001.10:g.228547598G>A	(Likely) benign	1 lab	0ea591f8d9
2:39249927 SOS1 T>G	2	39249927	39249927	T	G	SOS1	c.1642A>C	NM_005633.3	NP_005624.2:p.(Ser548Arg)	NC_000002.11:g.39249927T>G	(Likely) pathogenic	1 lab	99121020ff
2:109399295 RANBP2 G>A	2	109399295	109399295	G	A	RANBP2	c.9346G>A	NM_006267.5	NP_006258.3:p.(Val3116Ile)	NC_000002.11:g.109399295G>A	(Likely) benign	1 lab	090c2b3bde
12:48367249 COL2A1 C>G	12	48367249	48367249	C	G	COL2A1	c.4405G>C	NM_001844.5	NP_001835.3:p.(Asp1469His)	NC_000012.11:g.48367249C>G	(Likely) pathogenic	1 lab	9915a34ec1
3:196199169 RNF168 C>T	3	196199169	196199169	C	T	RNF168	c.1237G>A	NM_152617.3	NP_689830.2:p.(Glu413Lys)	NC_000003.11:g.196199169C>T	(Likely) benign	1 lab	0ea5fa5216
2:47698202 MSH2 G>A	2	47698202	47698202	G	A	MSH2	c.1759+1G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698202G>A	(Likely) pathogenic	1 lab	991abb89af
4:151788939 LRBA G>A	4	151788939	151788939	G	A	LRBA	c.2650C>T	NM_006726.4	NP_006717.2:p.(Gln884Ter)	NC_000004.11:g.151788939G>A	(Likely) pathogenic	1 lab	991bd40013
19:54627245 PRPF31 C>T	19	54627245	54627245	C	T	PRPF31	c.645C>T	NM_015629.3	NP_056444.3:p.(Ile215=)	NC_000019.9:g.54627245C>T	(Likely) benign	1 lab	991d1c5ad7
13:23915294 SACS C>T	13	23915294	23915294	C	T	SACS	c.2721G>A	NM_014363.5	NP_055178.3:p.(Leu907=)	NC_000013.10:g.23915294C>T	(Likely) benign	1 lab	991d9d182f
7:5569195 ACTB G>A	7	5569195	5569195	G	A	ACTB	c.94C>T	NM_001101.3	NP_001092.1:p.(Pro32Ser)	NC_000007.13:g.5569195G>A	VUS	1 lab	991e1692cf
2:120005631 STEAP3 G>A	2	120005631	120005631	G	A	STEAP3	c.899G>A	NM_182915.2	NP_878919.2:p.(Arg300His)	NC_000002.11:g.120005631G>A	(Likely) benign	1 lab	991e2bf4cc
X:49845250 CLCN5 G>C	X	49845250	49845250	G	C	CLCN5	c.394-1G>C	NM_000084.4	NP_000075.1:p.?	NC_000023.10:g.49845250G>C	(Likely) pathogenic	1 lab	9920a0d66d
2:98986510 CNGA3 T>C	2	98986510	98986510	T	C	CNGA3	c.72T>C	NM_001298.2	NP_001289.1:p.(Asp24=)	NC_000002.11:g.98986510T>C	(Likely) benign	1 lab	9924ac5777
X:107683284 COL4A5 A>G	X	107683284	107683284	A	G	COL4A5	c.-72A>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107683284A>G	VUS	1 lab	9925ff8172
11:74168471 KCNE3 C>T	11	74168471	74168471	C	T	KCNE3	c.138G>A	NM_005472.4	NP_005463.1:p.(Arg46=)	NC_000011.9:g.74168471C>T	(Likely) benign	1 lab	993534920e
4:114161688 ANK2 C>T	4	114161688	114161688	C	T	ANK2	c.741C>T	NM_001148.5	NP_001139.3:p.(Asn247=)	NC_000004.11:g.114161688C>T	(Likely) benign	1 lab	9935c6639e
17:62019290 SCN4A C>T	17	62019290	62019290	C	T	SCN4A	c.4352G>A	NM_000334.4	NP_000325.4:p.(Arg1451His)	NC_000017.10:g.62019290C>T	VUS	1 lab	993623c672
21:47690479 MCM3AP T>C	21	47690479	47690479	T	C	MCM3AP				NC_000021.8:g.47690479T>C	VUS	1 lab	993675fb86
10:43615562 RET C>G	10	43615562	43615562	C	G	RET	c.2641C>G	NM_020975.4	NP_066124.1:p.(Leu881Val)	NC_000010.10:g.43615562C>G	VUS	1 lab	993838218d
8:11406607 BLK G>A	8	11406607	11406607	G	A	BLK	c.344G>A	NM_001715.3	NP_001706.2:p.(Arg115Gln)	NC_000008.10:g.11406607G>A	(Likely) benign	1 lab	090c7d2e06
2:219136134 PNKD C>A	2	219136134	219136134	C	A	PNKD	c.98C>A	NM_015488.4	NP_056303.3:p.(Ala33Asp)	NC_000002.11:g.219136134C>A	(Likely) pathogenic	1 lab	993cb12a8c
22:38131242 TRIOBP G>A	22	38131242	38131242	G	A	TRIOBP	c.4899G>A	NM_001039141.2	NP_001034230.1:p.(Trp1633Ter)	NC_000022.10:g.38131242G>A	(Likely) pathogenic	1 lab	9940191e50
10:78651335 KCNMA1 C>T	10	78651335	78651335	C	T	KCNMA1	c.3116G>A	NM_002247.3	NP_002238.2:p.(Arg1039His)	NC_000010.10:g.78651335C>T	VUS	1 lab	9943ec0c9e
6:7585080 DSP G>A	6	7585080	7585080	G	A	DSP	c.7585G>A	NM_004415.4	NP_004406.2:p.(Asp2529Asn)	NC_000006.11:g.7585080G>A	VUS	1 lab	090f903b15
13:32969074 BRCA2 A>G	13	32969074	32969074	A	G	BRCA2	c.9501+4A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32969074A>G	(Likely) benign	1 lab	994915174c
12:50348095 AQP2 T>A	12	50348095	50348095	T	A	AQP2	c.518T>A	NM_000486.5	NP_000477.1:p.(Leu173His)	NC_000012.11:g.50348095T>A	(Likely) pathogenic	1 lab	994abb2484
4:114275532 ANK2 G>A	4	114275532	114275532	G	A	ANK2	c.5758G>A	NM_001148.5	NP_001139.3:p.(Gly1920Arg)	NC_000004.11:g.114275532G>A	VUS	1 lab	994d73f498
17:66511611 PRKAR1A A>G	17	66511611	66511611	A	G	PRKAR1A	c.71A>G	NM_002734.5	NP_002725.1:p.(Lys24Arg)	NC_000017.10:g.66511611A>G	VUS	1 lab	9951298f1e
18:2706438 SMCHD1 T>A	18	2706438	2706438	T	A	SMCHD1	c.2033T>A	NM_015295.3	NP_056110.2:p.(Val678Asp)	NC_000018.9:g.2706438T>A	VUS	1 lab	9952eaefb8
3:9976864 CRELD1 C>T	3	9976864	9976864	C	T	CRELD1	c.257+263C>T	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9976864C>T	(Likely) benign	1 lab	9954919fa2
X:46434208 CHST7 G>C	X	46434208	46434208	G	C	CHST7	c.842G>C	NM_019886.3	NP_063939.2:p.(Arg281Thr)	NC_000023.10:g.46434208G>C	VUS	1 lab	9955c892e6
18:10761037 MISSING G>A	18	10761037	10761037	G	A	MISSING				NC_000018.9:g.10761037G>A	(Likely) pathogenic	1 lab	9959f34026
X:148038056 AFF2 C>A	X	148038056	148038056	C	A	AFF2	c.2481C>A	NM_002025.3	NP_002016.2:p.(Asp827Glu)	NC_000023.10:g.148038056C>A	VUS	1 lab	995a2cd5f6
11:108163414 ATM G>T	11	108163414	108163414	G	T	ATM	c.4505G>T	NM_000051.3	NP_000042.3:p.(Cys1502Phe)	NC_000011.9:g.108163414G>T	VUS	1 lab	995b33f75c
1:12381893 VPS13D C>T	1	12381893	12381893	C	T	VPS13D	c.7576C>T	NM_015378.4	NP_056193.2:p.(His2526Tyr)	NC_000001.10:g.12381893C>T	VUS	1 lab	09135028d4
4:154245254 TRIM2 G>A	4	154245254	154245254	G	A	TRIM2	c.1907G>A	NM_001351056.2	NP_001337985.1:p.(Ser636Asn)	NC_000004.11:g.154245254G>A	VUS	1 lab	0ea83422fe
12:49580542 TUBA1A C>T	12	49580542	49580542	C	T	TUBA1A	c.78G>A	NM_001270399.1	NP_001257328.1:p.(Leu26=)	NC_000012.11:g.49580542C>T	(Likely) benign	1 lab	995ffe86fe
11:108188201 ATM C>A	11	108188201	108188201	C	A	ATM	c.6300C>A	NM_000051.3	NP_000042.3:p.(Tyr2100Ter)	NC_000011.9:g.108188201C>A	(Likely) pathogenic	1 lab	9960d9fa50
21:38877628 DYRK1A G>T	21	38877628	38877628	G	T	DYRK1A	c.1282G>T	NM_001396.3	NP_001387.2:p.(Gly428Ter)	NC_000021.8:g.38877628G>T	(Likely) pathogenic	1 lab	9961fd00ff
20:62326076 RTEL1 A>C	20	62326076	62326076	A	C	RTEL1	c.3182-18A>C	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62326076A>C	(Likely) benign	1 lab	9964de31fe
3:70008431 MITF C>T	3	70008431	70008431	C	T	MITF	c.718C>T	NM_000248.3	NP_000239.1:p.(Arg240Cys)	NC_000003.11:g.70008431C>T	(Likely) benign	1 lab	99657a392e
18:19426966 MIB1 T>C	18	19426966	19426966	T	C	MIB1	c.2273T>C	NM_020774.3	NP_065825.1:p.(Phe758Ser)	NC_000018.9:g.19426966T>C	VUS	1 lab	9966d11f42
13:32911567 BRCA2 G>C	13	32911567	32911567	G	C	BRCA2	c.3075G>C	NM_000059.3	NP_000050.2:p.(Lys1025Asn)	NC_000013.10:g.32911567G>C	(Likely) benign	1 lab	996758e3fc
3:38655250 SCN5A A>G	3	38655250	38655250	A	G	SCN5A	c.687T>C	NM_198056.2	NP_932173.1:p.(Thr229=)	NC_000003.11:g.38655250A>G	(Likely) benign	1 lab	9967d0ac60
6:33393601 SYNGAP1 G>C	6	33393601	33393601	G	C	SYNGAP1	c.216G>C	NM_006772.3	NP_006763.2:p.(Arg72=)	NC_000006.11:g.33393601G>C	(Likely) benign	1 lab	0ea85705b0
12:13761546 GRIN2B G>A	12	13761546	13761546	G	A	GRIN2B	c.2001C>T	NM_000834.4	NP_000825.2:p.(Ser667=)	NC_000012.11:g.13761546G>A	(Likely) benign	1 lab	0eaa669384
11:108129810 ATM T>C	11	108129810	108129810	T	C	ATM	c.2466+8T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108129810T>C	(Likely) benign	1 lab	996a7c0fa1
8:41557121 ANK1 T>C	8	41557121	41557121	T	C	ANK1	c.2585-55A>G	NM_001142446.2	NP_001135918.1:p.?	NC_000008.10:g.41557121T>C	(Likely) benign	1 lab	0eab94c691
6:76576271 MYO6 A>G	6	76576271	76576271	A	G	MYO6				NC_000006.11:g.76576271A>G	(Likely) benign	1 lab	99754146c1
1:45798257 MUTYH C>T	1	45798257	45798257	C	T	MUTYH	c.679G>A	NM_001128425.1	NP_001121897.1:p.(Ala227Thr)	NC_000001.10:g.45798257C>T	VUS	1 lab	9975739bf4
X:153582531 FLNA T>C	X	153582531	153582531	T	C	FLNA	c.5521A>G	NM_001456.3	NP_001447.2:p.(Met1841Val)	NC_000023.10:g.153582531T>C	VUS	1 lab	997e32c560
17:41243732 BRCA1 G>T	17	41243732	41243732	G	T	BRCA1	c.3816C>A	NM_007294.3	NP_009225.1:p.(Asn1272Lys)	NC_000017.10:g.41243732G>T	(Likely) benign	1 lab	0eac5ab95c
2:47637291 MSH2 C>A	2	47637291	47637291	C	A	MSH2	c.425C>A	NM_000251.3	NP_000242.1:p.(Ser142Ter)	NC_000002.11:g.47637291C>A	(Likely) pathogenic	1 lab	9983ca5108
2:179615036 TTN G>A	2	179615036	179615036	G	A	TTN	c.12091C>T	NM_133379.5	NP_596870.2:p.(Leu4031Phe)	NC_000002.11:g.179615036G>A	VUS	1 lab	0919699184
4:152637229 GATB G>A	4	152637229	152637229	G	A	GATB	c.695C>T	NM_004564.3	NP_004555.1:p.(Ala232Val)	NC_000004.11:g.152637229G>A	VUS	1 lab	091a7f23f2
16:2140680 PKD1 T>C	16	2140680	2140680	T	C	PKD1	c.12133A>G	NM_001009944.2	NP_001009944.2:p.(Ile4045Val)	NC_000016.9:g.2140680T>C	(Likely) benign	1 lab	9988a423b9
7:158706998 DYNC2I1 C>T	7	158706998	158706998	C	T	DYNC2I1	c.1777C>T	NM_018051.4	NP_060521.4:p.(Arg593Trp)	NC_000007.13:g.158706998C>T	(Likely) pathogenic	1 lab	99901849d4
1:237532846 RYR2 G>A	1	237532846	237532846	G	A	RYR2	c.322G>A	NM_001035.3	NP_001026.2:p.(Gly108Ser)	NC_000001.10:g.237532846G>A	(Likely) benign	1 lab	9991dcfa4c
19:41928627 BCKDHA G>A	19	41928627	41928627	G	A	BCKDHA	c.947G>A	NM_000709.3	NP_000700.1:p.(Arg316Gln)	NC_000019.9:g.41928627G>A	VUS	1 lab	9993c8e9bd
17:33434414 RAD51D C>T	17	33434414	33434414	C	T	RAD51D	c.316G>A	NM_002878.3	NP_002869.3:p.(Val106Ile)	NC_000017.10:g.33434414C>T	(Likely) benign	1 lab	9995df752f
6:26087755 HFE G>A	6	26087755	26087755	G	A	HFE	c.76+11G>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26087755G>A	(Likely) benign	1 lab	9997f66222
2:179500243 TTN A>G	2	179500243	179500243	A	G	TTN	c.41808T>C	NM_001267550.2	NP_001254479.2:p.(Asn13936=)	NC_000002.11:g.179500243A>G	(Likely) benign	1 lab	9999c52c7c
18:32418681 DTNA C>T	18	32418681	32418681	C	T	DTNA	c.1173-28C>T	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32418681C>T	VUS	1 lab	999a3bccc5
9:130582210 ENG A>T	9	130582210	130582210	A	T	ENG	c.1241T>A	NM_000118.3	NP_000109.1:p.(Met414Lys)	NC_000009.11:g.130582210A>T	VUS	1 lab	0eb2b1d62c
3:37083775 MLH1 C>T	3	37083775	37083775	C	T	MLH1	c.1684C>T	NM_000249.4	NP_000240.1:p.(Gln562Ter)	NC_000003.11:g.37083775C>T	(Likely) pathogenic	1 lab	99a26b1db2
2:241713627 KIF1A TTGA>T	2	241713627	241713632	TTGA	T	KIF1A				NC_000002.11:g.241713630_241713632del	(Likely) pathogenic	1 lab	99a27f9c64
4:77660519 SHROOM3 G>A	4	77660519	77660519	G	A	SHROOM3	c.1193G>A	NM_020859.3	NP_065910.3:p.(Arg398His)	NC_000004.11:g.77660519G>A	(Likely) benign	1 lab	99a437e4d2
2:39222353 SOS1 G>A	2	39222353	39222353	G	A	SOS1	c.3257C>T	NM_005633.4	NP_005624.2:p.(Pro1086Leu)	NC_000002.11:g.39222353G>A	VUS	1 lab	99a733c169
1:1275161 DVL1 T>C	1	1275161	1275161	T	C	DVL1	c.941A>G	NM_001330311.2	NP_001317240.1:p.(Asn314Ser)	NC_000001.10:g.1275161T>C	VUS	1 lab	1785caff94
13:32905048 BRCA2 T>G	13	32905048	32905048	T	G	BRCA2	c.682-8T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905048T>G	VUS	1 lab	a3f64ed16e
9:131379970 SPTAN1 C>T	9	131379970	131379970	C	T	SPTAN1	c.5409C>T	NM_001130438.2	NP_001123910.1:p.(Gly1803=)	NC_000009.11:g.131379970C>T	(Likely) benign	1 lab	99a9c97242
1:22199245 HSPG2 C>T	1	22199245	22199245	C	T	HSPG2	c.3897G>A	NM_005529.7	NP_005520.4:p.(Val1299=)	NC_000001.10:g.22199245C>T	(Likely) benign	1 lab	092029161f
13:53007813 VPS36 T>C	13	53007813	53007813	T	C	VPS36	c.512A>G	NM_016075.2	NP_057159.2:p.(Asp171Gly)	NC_000013.10:g.53007813T>C	VUS	1 lab	99b254b0bf
6:33147041 COL11A2 G>A	6	33147041	33147041	G	A	COL11A2	c.1524C>T	NM_080680.2	NP_542411.2:p.(Gly508=)	NC_000006.11:g.33147041G>A	(Likely) benign	1 lab	99b37edebb
17:41226347 BRCA1 C>T	17	41226347	41226347	C	T	BRCA1	c.4675+1G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226347C>T	(Likely) pathogenic	1 lab	99b5c4cba9
5:131995888 IL13 C>T	5	131995888	131995888	C	T	IL13	c.355C>T	NM_002188.3	NP_002179.2:p.(Arg119Ter)	NC_000005.9:g.131995888C>T	VUS	1 lab	09231f46b4
3:69998225 MITF TG>T	3	69998225	69998226	TG	T	MITF	c.466del	NM_000248.4	NP_000239.1:p.(Asp156IlefsTer26)	NC_000003.11:g.69998226del	(Likely) pathogenic	1 lab	99b92df417
17:42460975 ITGA2B G>A	17	42460975	42460975	G	A	ITGA2B				NC_000017.10:g.42460975G>A	(Likely) pathogenic	1 lab	99bb41ee54
17:39740011 KRT14 C>G	17	39740011	39740011	C	G	KRT14	c.927+1G>C	NM_000526.5	NP_000517.3:p.?	NC_000017.10:g.39740011C>G	(Likely) pathogenic	1 lab	0926c4aa22
1:151537076 TUFT1 C>T	1	151537076	151537076	C	T	TUFT1	c.400C>T	NM_020127.3	NP_064512.1:p.(Arg134Ter)	NC_000001.10:g.151537076C>T	VUS	1 lab	99bef980d7
1:237862282 RYR2 A>G	1	237862282	237862282	A	G	RYR2	c.9085A>G	NM_001035.2	NP_001026.2:p.(Ile3029Val)	NC_000001.10:g.237862282A>G	(Likely) benign	1 lab	99c10e0a41
4:87010234 MAPK10 C>T	4	87010234	87010234	C	T	MAPK10	c.802+9443G>A	NM_002753.5	NP_002744.1:p.?	NC_000004.11:g.87010234C>T	(Likely) benign	1 lab	a6b004c6f8
5:131714091 SLC22A5 G>A	5	131714091	131714091	G	A	SLC22A5	c.487G>A	NM_001308122.1	NP_001295051.1:p.(Asp163Asn)	NC_000005.9:g.131714091G>A	(Likely) benign	1 lab	0ec177cbcf
16:2152405 PKD1 T>C	16	2152405	2152405	T	C	PKD1	c.9178A>G	NM_001009944.3	NP_001009944.3:p.(Ser3060Gly)	NC_000016.9:g.2152405T>C	VUS	1 lab	99c5a2f48e
12:6687627 CHD4 C>G	12	6687627	6687627	C	G	CHD4	c.5067G>C	NM_001273.3	NP_001264.2:p.(Lys1689Asn)	NC_000012.11:g.6687627C>G	VUS	1 lab	99c5f16f5b
2:191859872 STAT1 A>T	2	191859872	191859872	A	T	STAT1	c.859T>A	NM_007315.3	NP_009330.1:p.(Tyr287Asn)	NC_000002.11:g.191859872A>T	VUS	1 lab	99c6b6dde9
14:95569942 DICER1 G>A	14	95569942	95569942	G	A	DICER1	c.3791C>T	NM_177438.3	NP_803187.1:p.(Thr1264Met)	NC_000014.8:g.95569942G>A	VUS	1 lab	092eba04a2
5:176824864 SLC34A1 C>T	5	176824864	176824864	C	T	SLC34A1	c.1497C>T	NM_003052.4	NP_003043.3:p.(Arg499=)	NC_000005.9:g.176824864C>T	VUS	1 lab	99cbf054a8
13:32911664 BRCA2 A>T	13	32911664	32911664	A	T	BRCA2	c.3172A>T	NM_000059.3	NP_000050.2:p.(Lys1058Ter)	NC_000013.10:g.32911664A>T	(Likely) pathogenic	1 lab	99cd2e4e7d
1:94497588 ABCA4 G>A	1	94497588	94497588	G	A	ABCA4				NC_000001.10:g.94497588G>A	(Likely) pathogenic	1 lab	9c064f35d5
3:10191509 VHL A>ATTGTCCGT	3	10191509	10191510	A	ATTGTCCGT	VHL	c.502_503insTTGTCCGT	NM_000551.3	NP_000542.1:p.(Ser168IlefsTer5)	NC_000003.11:g.10191509_10191510insTTGTCCGT	(Likely) pathogenic	1 lab	99ce54a56f
5:112174597 APC C>A	5	112174597	112174597	C	A	APC	c.3306C>A	NM_000038.6	NP_000029.2:p.(Tyr1102Ter)	NC_000005.9:g.112174597C>A	(Likely) pathogenic	1 lab	99d080d703
3:38592288 SCN5A T>G	3	38592288	38592288	T	G	SCN5A	c.5572A>C	NM_000335.5	NP_000326.2:p.(Lys1858Gln)	NC_000003.11:g.38592288T>G	VUS	1 lab	99d1563914
21:34617249 IFNAR2 T>G	21	34617249	34617249	T	G	IFNAR2	c.98-7T>G	NM_207585.2	NP_997468.1:p.?	NC_000021.8:g.34617249T>G	(Likely) benign	1 lab	0ec66fae4d
7:128494186 FLNC G>C	7	128494186	128494186	G	C	FLNC	c.6643G>C	NM_001458.4	NP_001449.3:p.(Gly2215Arg)	NC_000007.13:g.128494186G>C	VUS	1 lab	99d5d326eb
22:51115065 MISSING C>T	22	51115065	51115065	C	T	MISSING				NC_000022.10:g.51115065C>T	(Likely) pathogenic	1 lab	a4e36af570
13:20763483 GJB2 G>T	13	20763483	20763483	G	T	GJB2	c.238C>A	NM_004004.5	NP_003995.2:p.(Gln80Lys)	NC_000013.10:g.20763483G>T	(Likely) pathogenic	1 lab	99d5e9c51b
14:23899912 MYH7 C>T	14	23899912	23899912	C	T	MYH7	c.896-40G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23899912C>T	(Likely) benign	1 lab	99d7c60c72
1:247599355 NLRP3 A>G	1	247599355	247599355	A	G	NLRP3	c.2576A>G	NM_001243133.2	NP_001230062.1:p.(Tyr859Cys)	NC_000001.10:g.247599355A>G	(Likely) pathogenic	1 lab	0ec9b4fd34
16:162723 NPRL3 T>TA	16	162723	162724	T	TA	NPRL3	c.444dup	NM_001077350.3	NP_001070818.1:p.(Ile149TyrfsTer28)	NC_000016.9:g.162724dup	(Likely) pathogenic	1 lab	093a0688fc
6:7727271 BMP6 G>A	6	7727271	7727271	G	A	BMP6	c.83G>A	NM_001718.5	NP_001709.1:p.(Arg28Gln)	NC_000006.11:g.7727271G>A	(Likely) benign	1 lab	99dcec355e
14:24551906 NRL G>T	14	24551906	24551906	G	T	NRL	c.152C>A	NM_006177.3	NP_006168.1:p.(Pro51His)	NC_000014.8:g.24551906G>T	(Likely) pathogenic	1 lab	99de4f3a93
17:48272135 COL1A1 C>T	17	48272135	48272135	C	T	COL1A1	c.1408G>A	NM_000088.4	NP_000079.2:p.(Gly470Arg)	NC_000017.10:g.48272135C>T	(Likely) pathogenic	1 lab	99df23a078
6:149699733 TAB2 C>T	6	149699733	149699733	C	T	TAB2	c.682C>T	NM_001292034.3	NP_001278963.1:p.(Gln228Ter)	NC_000006.11:g.149699733C>T	(Likely) pathogenic	1 lab	99e0657203
1:155874259 RIT1 C>G	1	155874259	155874259	C	G	RIT1	c.323G>C	NM_001256821.1	NP_001243750.1:p.(Arg108Thr)	NC_000001.10:g.155874259C>G	VUS	1 lab	99e2fa150b
17:29585520 NF1 G>C	17	29585520	29585520	G	C	NF1	c.4332G>C	NM_001042492.3	NP_001035957.1:p.(Lys1444Asn)	NC_000017.10:g.29585520G>C	(Likely) pathogenic	1 lab	99e3621efc
X:19368152 PDHA1 G>A	X	19368152	19368152	G	A	PDHA1	c.329G>A	NM_001173454.1	NP_001166925.1:p.(Arg110His)	NC_000023.10:g.19368152G>A	VUS	1 lab	99e37e663f
17:41246490 BRCA1 C>T	17	41246490	41246490	C	T	BRCA1	c.1058G>A	NM_007294.4	NP_009225.1:p.(Trp353Ter)	NC_000017.10:g.41246490C>T	(Likely) pathogenic	1 lab	093d9caf45
5:112174355 APC G>C	5	112174355	112174355	G	C	APC	c.3064G>C	NM_000038.6	NP_000029.2:p.(Asp1022His)	NC_000005.9:g.112174355G>C	VUS	1 lab	99ec2cde3f
20:33582133 MYH7B C>T	20	33582133	33582133	C	T	MYH7B	c.2755C>T	NM_020884.4	NP_065935.3:p.(Arg919Cys)	NC_000020.10:g.33582133C>T	(Likely) benign	1 lab	99f114d2a4
3:190373856 IL1RAP G>A	3	190373856	190373856	G	A	IL1RAP	c.1524G>A	NM_001167931.2	NP_001161403.1:p.(Pro508=)	NC_000003.11:g.190373856G>A	(Likely) benign	1 lab	0ed0b0703e
13:32911508 BRCA2 G>T	13	32911508	32911508	G	T	BRCA2	c.3016G>T	NM_000059.4	NP_000050.3:p.(Gly1006Ter)	NC_000013.10:g.32911508G>T	(Likely) pathogenic	1 lab	09433dc21a
17:4858429 ENO3 C>G	17	4858429	4858429	C	G	ENO3	c.504C>G	NM_053013.4	NP_443739.3:p.(Phe168Leu)	NC_000017.10:g.4858429C>G	VUS	1 lab	99f72cc4d2
6:99347209 FBXL4 C>G	6	99347209	99347209	C	G	FBXL4	c.1252G>C	NM_001278716.1	NP_001265645.1:p.(Ala418Pro)	NC_000006.11:g.99347209C>G	VUS	1 lab	99f875f63a
19:50728851 MYH14 G>C	19	50728851	50728851	G	C	MYH14	c.703G>C	NM_024729.3	NP_079005.3:p.(Glu235Gln)	NC_000019.9:g.50728851G>C	VUS	1 lab	99fa6423be
17:44248350 KANSL1 C>T	17	44248350	44248350	C	T	KANSL1	c.1160G>A	NM_001193466.1	NP_001180395.1:p.(Gly387Asp)	NC_000017.10:g.44248350C>T	(Likely) benign	1 lab	99fcdfe221
16:2153758 PKD1 C>G	16	2153758	2153758	C	G	PKD1	c.8300G>C	NM_001009944.3	NP_001009944.3:p.(Arg2767Pro)	NC_000016.9:g.2153758C>G	(Likely) pathogenic	1 lab	9a02856b9d
9:100447272 XPA TTCTTC>T	9	100447272	100447278	TTCTTC	T	XPA	c.601_605del	NM_000380.4	NP_000371.1:p.(Glu201SerfsTer18)	NC_000009.11:g.100447274_100447278del	(Likely) pathogenic	1 lab	9a042bc418
1:241671928 FH T>C	1	241671928	241671928	T	C	FH	c.713A>G	NM_000143.3	NP_000134.2:p.(Asp238Gly)	NC_000001.10:g.241671928T>C	VUS	1 lab	9a0443e124
10:67680380 CTNNA3 A>T	10	67680380	67680380	A	T	CTNNA3	c.2401-5T>A	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.67680380A>T	(Likely) benign	1 lab	9a062d2aab
16:56913473 SLC12A3 G>A	16	56913473	56913473	G	A	SLC12A3	c.1355G>A	NM_000339.2	NP_000330.2:p.(Gly452Asp)	NC_000016.9:g.56913473G>A	VUS	1 lab	9a097b4d94
16:66565348 TK2 G>A	16	66565348	66565348	G	A	TK2	c.310C>T	NM_004614.4	NP_004605.4:p.(Arg104Cys)	NC_000016.9:g.66565348G>A	(Likely) pathogenic	1 lab	9a09b9d93a
11:61727389 BEST1 T>C	11	61727389	61727389	T	C	BEST1	c.974T>C	NM_004183.3	NP_004174.1:p.(Met325Thr)	NC_000011.9:g.61727389T>C	(Likely) pathogenic	1 lab	9a0a712448
15:75684623 SIN3A CTT>C	15	75684623	75684625	CTT	C	SIN3A	c.2809_2810del	NM_001145358.2	NP_001138830.1:p.(Lys937GlufsTer2)	NC_000015.9:g.75684624_75684625del	(Likely) pathogenic	1 lab	9a0ba2dafa
X:8565170 ANOS1 T>C	X	8565170	8565170	T	C	ANOS1	c.446A>G	NM_000216.4	NP_000207.2:p.(Glu149Gly)	NC_000023.10:g.8565170T>C	VUS	1 lab	9a0c0d579b
6:129204441 LAMA2 CGGGGGCGTACA>C	6	129204441	129204454	CGGGGGCGTACA	C	LAMA2	c.54_64del	NM_000426.4	NP_000417.3:p.(Gly19AlafsTer27)	NC_000006.11:g.129204444_129204454del	(Likely) pathogenic	1 lab	094c59d62f
12:111348639 MYL2 C>T	12	111348639	111348639	C	T	MYL2	c.*242G>A	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348639C>T	(Likely) benign	1 lab	9a0cff7a30
2:32366974 SPAST C>T	2	32366974	32366974	C	T	SPAST	c.1495C>T	NM_014946.3	NP_055761.2:p.(Arg499Cys)	NC_000002.11:g.32366974C>T	(Likely) pathogenic	1 lab	9a0d53e0d8
3:52440394 BAP1 T>C	3	52440394	52440394	T	C	BAP1	c.660-2A>G	NM_004656.3	NP_004647.1:p.?	NC_000003.11:g.52440394T>C	(Likely) pathogenic	1 lab	9a0e811138
1:236920857 ACTN2 C>T	1	236920857	236920857	C	T	ACTN2	c.2226C>T	NM_001103.4	NP_001094.1:p.(Ile742=)	NC_000001.10:g.236920857C>T	(Likely) benign	1 lab	9a0f67da06
4:187003759 TLR3 T>G	4	187003759	187003759	T	G	TLR3	c.919T>G	NM_003265.2	NP_003256.1:p.(Tyr307Asp)	NC_000004.11:g.187003759T>G	(Likely) benign	1 lab	0ed6df6fa8
10:28903528 WAC G>GTC	10	28903528	28903530	G	GTC	WAC	c.1471_1472dup	NM_016628.5	NP_057712.2:p.(Gln492HisfsTer9)	NC_000010.10:g.28903529_28903530dup	(Likely) pathogenic	1 lab	9a1e6f9a5b
X:10176339 CLCN4 G>C	X	10176339	10176339	G	C	CLCN4	c.1098G>C	NM_001830.3	NP_001821.2:p.(Gly366=)	NC_000023.10:g.10176339G>C	(Likely) benign	1 lab	9a2121fefb
1:216144022 USH2A A>G	1	216144022	216144022	A	G	USH2A	c.6902T>C	NM_206933.2	NP_996816.2:p.(Leu2301Ser)	NC_000001.10:g.216144022A>G	VUS	1 lab	9a22dd6f42
13:32911365 BRCA2 G>T	13	32911365	32911365	G	T	BRCA2	c.2873G>T	NM_000059.3	NP_000050.2:p.(Ser958Ile)	NC_000013.10:g.32911365G>T	(Likely) benign	1 lab	9a2479f582
4:114279603 ANK2 T>C	4	114279603	114279603	T	C	ANK2	c.9829T>C	NM_001148.5	NP_001139.3:p.(Ser3277Pro)	NC_000004.11:g.114279603T>C	VUS	1 lab	9a262ca7ef
3:193384178 OPA1 G>A	3	193384178	193384178	G	A	OPA1	c.2872G>A	NM_130837.3	NP_570850.2:p.(Val958Ile)	NC_000003.11:g.193384178G>A	VUS	1 lab	9a26f57736
2:166848674 SCN1A A>T	2	166848674	166848674	A	T	SCN1A	c.5111T>A	NM_001165963.3	NP_001159435.1:p.(Met1704Lys)	NC_000002.11:g.166848674A>T	(Likely) pathogenic	1 lab	0ed9f2d687
7:44179470 MYL7 G>A	7	44179470	44179470	G	A	MYL7	c.299-11C>T	NM_021223.2	NP_067046.1:p.?	NC_000007.13:g.44179470G>A	VUS	1 lab	9a2f94d3ba
2:179644028 TTN G>A	2	179644028	179644028	G	A	TTN	c.3891C>T	NM_001267550.2	NP_001254479.2:p.(Ile1297=)	NC_000002.11:g.179644028G>A	(Likely) benign	1 lab	9a3166dea1
14:105407770 AHNAK2 T>A	14	105407770	105407770	T	A	AHNAK2	c.14018A>T	NM_138420.4	NP_612429.2:p.(His4673Leu)	NC_000014.8:g.105407770T>A	(Likely) benign	1 lab	9a31fe53e4
17:78079224 GAA G>A	17	78079224	78079224	G	A	GAA	c.546+293G>A	NM_000152.3	NP_000143.2:p.?	NC_000017.10:g.78079224G>A	(Likely) benign	1 lab	0edb7942da
10:89653818 PTEN C>T	10	89653818	89653818	C	T	PTEN	c.116C>T	NM_000314.8	NP_000305.3:p.(Ala39Val)	NC_000010.10:g.89653818C>T	VUS	1 lab	9a34ded1fe
12:49426781 KMT2D G>A	12	49426781	49426781	G	A	KMT2D	c.11707C>T	NM_003482.3	NP_003473.3:p.(Gln3903Ter)	NC_000012.11:g.49426781G>A	(Likely) pathogenic	1 lab	9a39faee87
11:62473046 BSCL2 C>T	11	62473046	62473046	C	T	BSCL2	c.131G>A	NM_001122955.4	NP_001116427.1:p.(Gly44Asp)	NC_000011.9:g.62473046C>T	(Likely) benign	1 lab	0952803e6b
17:56271060 EPX T>C	17	56271060	56271060	T	C	EPX	c.347-15T>C	NM_000502.6	NP_000493.1:p.?	NC_000017.10:g.56271060T>C	(Likely) benign	1 lab	0953c0002e
5:68715243 MARVELD2 GA>G	5	68715243	68715244	GA	G	MARVELD2				NC_000005.9:g.68715244del	(Likely) pathogenic	1 lab	9a44b55826
17:10440966 MYH2 G>A	17	10440966	10440966	G	A	MYH2	c.1587+16C>T	NM_017534.5	NP_060004.3:p.?	NC_000017.10:g.10440966G>A	(Likely) benign	1 lab	9a49698c87
17:78078351 GAA C>G	17	78078351	78078351	C	G	GAA	c.-32-3C>G	NM_000152.5	NP_000143.2:p.?	NC_000017.10:g.78078351C>G	(Likely) pathogenic	1 lab	9a4a168d8a
6:6174856 F13A1 T>C	6	6174856	6174856	T	C	F13A1				NC_000006.11:g.6174856T>C	(Likely) benign	1 lab	9a4a5817f8
9:34501180 DNAI1 G>A	9	34501180	34501180	G	A	DNAI1	c.1063+1G>A	NM_012144.4	NP_036276.1:p.?	NC_000009.11:g.34501180G>A	(Likely) pathogenic	1 lab	9a4aba6274
2:242054463 PASK G>A	2	242054463	242054463	G	A	PASK	c.3328C>T	NM_001252119.1	NP_001239048.1:p.(Arg1110Ter)	NC_000002.11:g.242054463G>A	VUS	1 lab	9a4d073849
18:32469734 DTNA C>G	18	32469734	32469734	C	G	DTNA	c.*2036C>G	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32469734C>G	VUS	1 lab	9a53657683
12:49437726 KMT2D C>T	12	49437726	49437726	C	T	KMT2D	c.5244G>A	NM_003482.3	NP_003473.3:p.(Gly1748=)	NC_000012.11:g.49437726C>T	(Likely) benign	1 lab	0ee1be3d8a
14:23894965 MYH7 G>T	14	23894965	23894965	G	T	MYH7	c.2225C>A	NM_000257.3	NP_000248.2:p.(Ala742Glu)	NC_000014.8:g.23894965G>T	VUS	1 lab	9a590066b5
2:179644034 TTN T>A	2	179644034	179644034	T	A	TTN	c.3885A>T	NM_001267550.2	NP_001254479.2:p.(Ser1295=)	NC_000002.11:g.179644034T>A	(Likely) benign	1 lab	9a5f43ed41
1:237893635 RYR2 T>C	1	237893635	237893635	T	C	RYR2	c.10914T>C	NM_001035.2	NP_001026.2:p.(Asp3638=)	NC_000001.10:g.237893635T>C	(Likely) benign	1 lab	9a6043bff9
5:112102961 APC G>A	5	112102961	112102961	G	A	APC	c.296G>A	NM_000038.5	NP_000029.2:p.(Arg99Gln)	NC_000005.9:g.112102961G>A	VUS	1 lab	9a631e2104
1:216380755 USH2A G>A	1	216380755	216380755	G	A	USH2A	c.3176C>T	NM_206933.2	NP_996816.2:p.(Pro1059Leu)	NC_000001.10:g.216380755G>A	VUS	1 lab	9a63b6b297
8:41845024 KAT6A G>A	8	41845024	41845024	G	A	KAT6A	c.658C>T	NM_006766.5	NP_006757.2:p.(Arg220Ter)	NC_000008.10:g.41845024G>A	(Likely) pathogenic	1 lab	9a661d21a4
7:33390912 BBS9 T>C	7	33390912	33390912	T	C	BBS9	c.1514T>C	NM_198428.2	NP_940820.1:p.(Val505Ala)	NC_000007.13:g.33390912T>C	VUS	1 lab	9a66fc959d
12:6135070 VWF A>C	12	6135070	6135070	A	C	VWF	c.3108+2T>G	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6135070A>C	(Likely) pathogenic	1 lab	9a6ced2e8a
3:189612262 TP63 C>T	3	189612262	189612262	C	T	TP63	c.2014C>T	NM_003722.5	NP_003713.3:p.(Gln672Ter)	NC_000003.11:g.189612262C>T	(Likely) pathogenic	1 lab	0955130d42
X:53563589 HUWE1 A>G	X	53563589	53563589	A	G	HUWE1	c.12177T>C	NM_031407.7	NP_113584.3:p.(Gly4059=)	NC_000023.10:g.53563589A>G	(Likely) benign	1 lab	09576a64c6
17:41246789 BRCA1 T>A	17	41246789	41246789	T	A	BRCA1	c.759A>T	NM_007294.4	NP_009225.1:p.(Ala253=)	NC_000017.10:g.41246789T>A	(Likely) benign	1 lab	9a6ffe8b06
17:7923564 GUCY2D T>C	17	7923564	7923564	T	C	GUCY2D	c.*143T>C	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7923564T>C	(Likely) benign	1 lab	9a70b44ede
1:53675797 CPT2 C>T	1	53675797	53675797	C	T	CPT2	c.451C>T	NM_000098.2	NP_000089.1:p.(Arg151Trp)	NC_000001.10:g.53675797C>T	(Likely) pathogenic	1 lab	9a7237e25a
1:17355176 SDHB G>A	1	17355176	17355176	G	A	SDHB	c.342C>T	NM_003000.2	NP_002991.2:p.(Thr114=)	NC_000001.10:g.17355176G>A	(Likely) benign	1 lab	9a7853c2e6
13:32920975 BRCA2 G>A	13	32920975	32920975	G	A	BRCA2	c.6949G>A	NM_000059.3	NP_000050.2:p.(Asp2317Asn)	NC_000013.10:g.32920975G>A	VUS	1 lab	9a790387f3
15:89386740 ACAN C>A	15	89386740	89386740	C	A	ACAN	c.912C>A	NM_013227.3	NP_037359.3:p.(Asp304Glu)	NC_000015.9:g.89386740C>A	(Likely) pathogenic	1 lab	9a7a26294c
15:48707956 FBN1 C>T	15	48707956	48707956	C	T	FBN1	c.7828G>A	NM_000138.4	NP_000129.3:p.(Glu2610Lys)	NC_000015.9:g.48707956C>T	(Likely) pathogenic	1 lab	9a7e37888b
17:38978371 KRT10 C>T	17	38978371	38978371	C	T	KRT10	c.467G>A	NM_000421.5	NP_000412.4:p.(Arg156His)	NC_000017.10:g.38978371C>T	(Likely) pathogenic	1 lab	9a84251c3c
15:99478182 IGF1R G>C	15	99478182	99478182	G	C	IGF1R	c.3086G>C	NM_000875.5	NP_000866.1:p.(Arg1029Thr)	NC_000015.9:g.99478182G>C	VUS	1 lab	9a846253ff
6:152716670 SYNE1 C>A	6	152716670	152716670	C	A	SYNE1	c.7693G>T	NM_182961.4	NP_892006.3:p.(Gly2565Ter)	NC_000006.11:g.152716670C>A	(Likely) pathogenic	1 lab	9a885edadb
5:112043458 APC C>A	5	112043458	112043458	C	A	APC				NC_000005.9:g.112043458C>A	(Likely) benign	1 lab	9a8928e2b8
5:149275963 PDE6A A>G	5	149275963	149275963	A	G	PDE6A	c.1576T>C	NM_000440.2	NP_000431.2:p.(Tyr526His)	NC_000005.9:g.149275963A>G	VUS	1 lab	9a8a381d35
1:155311740 ASH1L T>C	1	155311740	155311740	T	C	ASH1L	c.8447A>G	NM_018489.2	NP_060959.2:p.(Lys2816Arg)	NC_000001.10:g.155311740T>C	(Likely) benign	1 lab	9a907601dc
2:86491146 REEP1 A>G	2	86491146	86491146	A	G	REEP1	c.124T>C	NM_022912.3	NP_075063.1:p.(Trp42Arg)	NC_000002.11:g.86491146A>G	(Likely) pathogenic	1 lab	0959940303
12:133249300 POLE C>T	12	133249300	133249300	C	T	POLE	c.1599G>A	NM_006231.2	NP_006222.2:p.(Val533=)	NC_000012.11:g.133249300C>T	(Likely) benign	1 lab	9a961bab10
16:16110351 ABCC1 A>C	16	16110351	16110351	A	C	ABCC1	c.490-2A>C	NM_004996.4	NP_004987.2:p.?	NC_000016.9:g.16110351A>C	VUS	1 lab	9a97a0702b
2:165969566 SCN3A G>A	2	165969566	165969566	G	A	SCN3A	c.3672C>T	NM_006922.3	NP_008853.3:p.(Ala1224=)	NC_000002.11:g.165969566G>A	(Likely) benign	1 lab	9a9b1d9766
11:118375341 KMT2A A>G	11	118375341	118375341	A	G	KMT2A	c.8734A>G	NM_001197104.1	NP_001184033.1:p.(Ser2912Gly)	NC_000011.9:g.118375341A>G	VUS	1 lab	9a9eed57dc
15:35081745 ACTC1 A>C	15	35081745	35081745	A	C	ACTC1	c.*868T>G	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35081745A>C	(Likely) benign	1 lab	9a9f3189e9
2:167134775 SCN9A T>C	2	167134775	167134775	T	C	SCN9A	c.2359A>G	NM_002977.3	NP_002968.1:p.(Met787Val)	NC_000002.11:g.167134775T>C	(Likely) benign	1 lab	9a9fe50248
2:165997430 SCN3A C>A	2	165997430	165997430	C	A	SCN3A	c.1750G>T	NM_006922.3	NP_008853.3:p.(Ala584Ser)	NC_000002.11:g.165997430C>A	(Likely) benign	1 lab	9aa564bb81
10:99361704 HOGA1 A>T	10	99361704	99361704	A	T	HOGA1	c.791A>T	NM_138413.4	NP_612422.2:p.(Asp264Val)	NC_000010.10:g.99361704A>T	VUS	1 lab	9aaca21c55
17:30796187 PSMD11 C>T	17	30796187	30796187	C	T	PSMD11	c.619C>T	NM_002815.4	NP_002806.2:p.(Gln207Ter)	NC_000017.10:g.30796187C>T	VUS	1 lab	9aaee224fa
X:55042114 ALAS2 G>T	X	55042114	55042114	G	T	ALAS2	c.1065C>A	NM_000032.5	NP_000023.2:p.(Phe355Leu)	NC_000023.10:g.55042114G>T	VUS	1 lab	9ab80937ca
9:139391476 NOTCH1 C>T	9	139391476	139391476	C	T	NOTCH1	c.6715G>A	NM_017617.4	NP_060087.3:p.(Asp2239Asn)	NC_000009.11:g.139391476C>T	VUS	1 lab	9ab8890b22
16:71660310 MISSING G>A	16	71660310	71660310	G	A	MISSING				NC_000016.9:g.71660310G>A	(Likely) benign	1 lab	a528439ad1
8:11617097 GATA4 C>G	8	11617097	11617097	C	G	GATA4	c.*1113C>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11617097C>G	(Likely) benign	1 lab	9abf4632b4
X:153001709 ABCD1 G>T	X	153001709	153001709	G	T	ABCD1	c.1224+1G>T	NM_000033.4	NP_000024.2:p.?	NC_000023.10:g.153001709G>T	(Likely) pathogenic	1 lab	9ac27a3b65
4:110682745 CFI A>G	4	110682745	110682745	A	G	CFI	c.586T>C	NM_001318057.1	NP_001304986.1:p.(Cys196Arg)	NC_000004.11:g.110682745A>G	VUS	1 lab	9ac5e06ea6
1:237969458 RYR2 T>C	1	237969458	237969458	T	C	RYR2	c.14173T>C	NM_001035.2	NP_001026.2:p.(Tyr4725His)	NC_000001.10:g.237969458T>C	(Likely) pathogenic	1 lab	9acaafe93e
2:26688572 OTOF G>A	2	26688572	26688572	G	A	OTOF	c.4767C>T	NM_194248.2	NP_919224.1:p.(Arg1589=)	NC_000002.11:g.26688572G>A	(Likely) benign	1 lab	9ad0112264
7:117171007 CFTR G>C	7	117171007	117171007	G	C	CFTR	c.328G>C	NM_000492.3	NP_000483.3:p.(Asp110His)	NC_000007.13:g.117171007G>C	(Likely) pathogenic	1 lab	9ad26861a7
4:155665777 LRAT G>A	4	155665777	155665777	G	A	LRAT	c.299G>A	NM_004744.4	NP_004735.2:p.(Gly100Asp)	NC_000004.11:g.155665777G>A	VUS	1 lab	9ad3989d90
1:156084825 LMNA A>G	1	156084825	156084825	A	G	LMNA	c.116A>G	NM_170707.4	NP_733821.1:p.(Asn39Ser)	NC_000001.10:g.156084825A>G	(Likely) pathogenic	1 lab	9ad3fb236a
1:173934083 RC3H1 C>T	1	173934083	173934083	C	T	RC3H1	c.1510G>A	NM_172071.4	NP_742068.1:p.(Val504Ile)	NC_000001.10:g.173934083C>T	(Likely) benign	1 lab	0ee754bdf9
4:187194332 F11 G>A	4	187194332	187194332	G	A	F11	c.325+1G>A	NM_000128.3	NP_000119.1:p.?	NC_000004.11:g.187194332G>A	(Likely) pathogenic	1 lab	9ad4a63f4f
1:97547986 DPYD C>T	1	97547986	97547986	C	T	DPYD	c.2807G>A	NM_000110.3	NP_000101.2:p.(Gly936Asp)	NC_000001.10:g.97547986C>T	VUS	1 lab	9ad65e41cc
16:23651728 PALB2 G>C	16	23651728	23651728	G	C	PALB2	c.48+703C>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23651728G>C	(Likely) benign	1 lab	9ada61f5a3
17:79478468 ACTG1 C>T	17	79478468	79478468	C	T	ACTG1	c.548G>A	NM_001199954.1	NP_001186883.1:p.(Arg183Gln)	NC_000017.10:g.79478468C>T	(Likely) pathogenic	1 lab	9addbba4ce
6:33138669 COL11A2 C>T	6	33138669	33138669	C	T	COL11A2	c.3392G>A	NM_080680.2	NP_542411.2:p.(Arg1131Gln)	NC_000006.11:g.33138669C>T	VUS	1 lab	9ae14e84fa
5:88057071 MEF2C AG>A	5	88057071	88057074	AG	A	MEF2C	c.332del	NM_002397.5	NP_002388.2:p.(Pro111LeufsTer16)	NC_000005.9:g.88057074del	(Likely) pathogenic	1 lab	9ae16349e2
7:27135308 HOXA1 GGGTGGCGATGGT>G	7	27135308	27135325	GGGTGGCGATGGT	G	HOXA1	c.212_223del	NM_005522.5	NP_005513.2:p.(His71_His74del)	NC_000007.13:g.27135314_27135325del	VUS	1 lab	095d44692e
12:66935660 GRIP1 C>T	12	66935660	66935660	C	T	GRIP1	c.207G>A	NM_021150.4	NP_066973.2:p.(Ser69=)	NC_000012.11:g.66935660C>T	(Likely) benign	1 lab	0ee9c99bdf
1:229567226 ACTA1 G>C	1	229567226	229567226	G	C	ACTA1	c.*20C>G	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229567226G>C	(Likely) benign	1 lab	9ae6301b38
10:67680326 CTNNA3 G>T	10	67680326	67680326	G	T	CTNNA3	c.2450C>A	NM_013266.4	NP_037398.2:p.(Ala817Asp)	NC_000010.10:g.67680326G>T	VUS	1 lab	0eeaf6c287
3:120369683 HGD G>A	3	120369683	120369683	G	A	HGD	c.372C>T	NM_000187.4	NP_000178.2:p.(Asp124=)	NC_000003.11:g.120369683G>A	(Likely) benign	1 lab	9aeb5a7dc1
5:112111326 APC G>C	5	112111326	112111326	G	C	APC	c.423G>C	NM_000038.6	NP_000029.2:p.(Arg141Ser)	NC_000005.9:g.112111326G>C	(Likely) pathogenic	1 lab	9aeef48631
1:16270841 ZBTB17 G>A	1	16270841	16270841	G	A	ZBTB17	c.1079C>T	NM_001242884.1	NP_001229813.1:p.(Thr360Met)	NC_000001.10:g.16270841G>A	VUS	1 lab	9aef187264
2:39241981 SOS1 T>C	2	39241981	39241981	T	C	SOS1	c.1865A>G	NM_005633.3	NP_005624.2:p.(Asn622Ser)	NC_000002.11:g.39241981T>C	VUS	1 lab	9aefe984ba
2:167266370 SCN7A A>G	2	167266370	167266370	A	G	SCN7A	c.3787T>C	NM_002976.4	NP_002967.2:p.(Phe1263Leu)	NC_000002.11:g.167266370A>G	(Likely) benign	1 lab	9af0f5f4eb
10:73562947 CDH23 C>T	10	73562947	73562947	C	T	CDH23	c.7661-19C>T	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73562947C>T	(Likely) benign	1 lab	9af1e2ebd6
2:206994920 NDUFS1 C>T	2	206994920	206994920	C	T	NDUFS1	c.1600G>A	NM_005006.7	NP_004997.4:p.(Val534Met)	NC_000002.11:g.206994920C>T	(Likely) benign	1 lab	095d44c714
17:48265926 COL1A1 C>T	17	48265926	48265926	C	T	COL1A1	c.3172G>A	NM_000088.4	NP_000079.2:p.(Gly1058Ser)	NC_000017.10:g.48265926C>T	(Likely) pathogenic	1 lab	9afeb5275c
X:43587559 MAOA C>T	X	43587559	43587559	C	T	MAOA	c.643C>T	NM_000240.3	NP_000231.1:p.(Gln215Ter)	NC_000023.10:g.43587559C>T	(Likely) pathogenic	1 lab	9aff2a7ce3
14:61115542 SIX1 C>G	14	61115542	61115542	C	G	SIX1	c.366G>C	NM_005982.3	NP_005973.1:p.(Trp122Cys)	NC_000014.8:g.61115542C>G	VUS	1 lab	9b03e00dc7
7:117292831 CFTR TAAGGGAAAAATAAA>T	7	117292831	117292848	TAAGGGAAAAATAAA	T	CFTR	c.3874-61_3874-48del	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117292835_117292848del	(Likely) benign	1 lab	9b0d2402c5
1:151400751 POGZ G>GT	1	151400751	151400752	G	GT	POGZ	c.706dup	NM_015100.3	NP_055915.2:p.(Thr236AsnfsTer79)	NC_000001.10:g.151400752dup	(Likely) pathogenic	1 lab	9b0ec7129b
7:30640809 GARS1 G>A	7	30640809	30640809	G	A	GARS1	c.562G>A	NM_002047.2	NP_002038.2:p.(Val188Ile)	NC_000007.13:g.30640809G>A	VUS	1 lab	9b137534ff
2:179576881 TTN A>T	2	179576881	179576881	A	T	TTN	c.27676T>A	NM_001267550.2	NP_001254479.2:p.(Cys9226Ser)	NC_000002.11:g.179576881A>T	VUS	1 lab	9b15fac864
X:153033815 PLXNB3 G>A	X	153033815	153033815	G	A	PLXNB3	c.1267G>A	NM_001163257.1	NP_001156729.1:p.(Val423Met)	NC_000023.10:g.153033815G>A	VUS	1 lab	9b17b55207
2:223161798 PAX3 G>A	2	223161798	223161798	G	A	PAX3	c.220C>T	NM_181459.3	NP_852124.1:p.(Arg74Cys)	NC_000002.11:g.223161798G>A	(Likely) pathogenic	1 lab	9b198ef75c
4:656334 PDE6B G>C	4	656334	656334	G	C	PDE6B	c.1759G>C	NM_000283.4	NP_000274.3:p.(Ala587Pro)	NC_000004.11:g.656334G>C	VUS	1 lab	9b1a35e625
3:100988349 IMPG2 GT>CC	3	100988349	100988350	GT	CC	IMPG2	c.887+9_887+10delinsGG	NM_016247.4	NP_057331.2:p.?	NC_000003.11:g.100988349_100988350delinsCC	VUS	1 lab	9b1d6af2af
14:75472605 EIF2B2 A>G	14	75472605	75472605	A	G	EIF2B2	c.634A>G	NM_014239.3	NP_055054.1:p.(Ile212Val)	NC_000014.8:g.75472605A>G	VUS	1 lab	9b1e586465
4:6293682 WFS1 C>T	4	6293682	6293682	C	T	WFS1	c.670C>T	NM_006005.3	NP_005996.2:p.(Gln224Ter)	NC_000004.11:g.6293682C>T	(Likely) pathogenic	1 lab	9b1f472b93
6:51923122 PKHD1 T>C	6	51923122	51923122	T	C	PKHD1	c.1511A>G	NM_138694.4	NP_619639.3:p.(Gln504Arg)	NC_000006.11:g.51923122T>C	VUS	1 lab	9b208eeb70
20:5965599 MCM8 T>C	20	5965599	5965599	T	C	MCM8	c.1906T>C	NM_032485.6	NP_115874.3:p.(Ser636Pro)	NC_000020.10:g.5965599T>C	VUS	1 lab	9b22af54b7
11:119149236 CBL G>T	11	119149236	119149236	G	T	CBL	c.1244G>T	NM_005188.4	NP_005179.2:p.(Gly415Val)	NC_000011.9:g.119149236G>T	VUS	1 lab	9b2515ee10
7:81634822 CACNA2D1 G>A	7	81634822	81634822	G	A	CACNA2D1	c.1516-9C>T	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81634822G>A	(Likely) benign	1 lab	9b2666fd7b
1:43396349 SLC2A1 G>A	1	43396349	43396349	G	A	SLC2A1				NC_000001.10:g.43396349G>A	(Likely) pathogenic	1 lab	9b267c5969
9:116044994 PRPF4 C>T	9	116044994	116044994	C	T	PRPF4	c.464C>T	NM_004697.4	NP_004688.2:p.(Ser155Phe)	NC_000009.11:g.116044994C>T	VUS	1 lab	9b29bdcda1
9:94499797 ROR2 A>G	9	94499797	94499797	A	G	ROR2				NC_000009.11:g.94499797A>G	(Likely) benign	1 lab	9b2aef78fe
6:157488314 ARID1B C>T	6	157488314	157488314	C	T	ARID1B	c.2981C>T	NM_001346813.1	NP_001333742.1:p.(Ser994Leu)	NC_000006.11:g.157488314C>T	VUS	1 lab	9b2b242516
11:8111191 TUB C>G	11	8111191	8111191	C	G	TUB	c.238C>G	NM_003320.4	NP_003311.2:p.(Gln80Glu)	NC_000011.9:g.8111191C>G	VUS	1 lab	ac8c116834
2:227924924 COL4A4 C>T	2	227924924	227924924	C	T	COL4A4	c.2092G>A	NM_000092.5	NP_000083.3:p.(Gly698Arg)	NC_000002.11:g.227924924C>T	(Likely) pathogenic	1 lab	9b2b89f5dc
12:21997771 ABCC9 A>G	12	21997771	21997771	A	G	ABCC9	c.3175T>C	NM_005691.2	NP_005682.2:p.(Trp1059Arg)	NC_000012.11:g.21997771A>G	VUS	1 lab	9b2c2b7560
13:52585453 ATP7B CTG>C	13	52585453	52585456	CTG	C	ATP7B				NC_000013.10:g.52585455_52585456del	(Likely) pathogenic	1 lab	9b2cdb8e0a
12:80803484 MISSING G>T	12	80803484	80803484	G	T	MISSING				NC_000012.11:g.80803484G>T	(Likely) benign	1 lab	9b2dc82583
13:32903565 BRCA2 A>G	13	32903565	32903565	A	G	BRCA2	c.632-15A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903565A>G	(Likely) benign	1 lab	9b2e61a0f9
12:49435955 KMT2D T>C	12	49435955	49435955	T	C	KMT2D	c.6026A>G	NM_003482.3	NP_003473.3:p.(Asp2009Gly)	NC_000012.11:g.49435955T>C	VUS	1 lab	9b2e66c26f
11:108236254 ATM C>A	11	108236254	108236254	C	A	ATM	c.*19C>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236254C>A	VUS	1 lab	9b2e6988ae
1:200957449 KIF21B G>T	1	200957449	200957449	G	T	KIF21B	c.3383C>A	NM_017596.4	NP_060066.2:p.(Thr1128Asn)	NC_000001.10:g.200957449G>T	VUS	1 lab	096656e67e
9:75366765 TMC1 G>A	9	75366765	75366765	G	A	TMC1	c.536-1G>A	NM_138691.2	NP_619636.2:p.?	NC_000009.11:g.75366765G>A	(Likely) pathogenic	1 lab	9b35fd7b26
22:36650978 APOL1 T>C	22	36650978	36650978	T	C	APOL1	c.-19-5T>C	NM_003661.4	NP_003652.2:p.?	NC_000022.10:g.36650978T>C	(Likely) benign	1 lab	0eeebab346
4:151392779 LRBA C>T	4	151392779	151392779	C	T	LRBA	c.6697G>A	NM_006726.4	NP_006717.2:p.(Ala2233Thr)	NC_000004.11:g.151392779C>T	VUS	1 lab	9b37cfaab3
11:64694336 PPP2R5B C>G	11	64694336	64694336	C	G	PPP2R5B	c.352C>G	NM_006244.4	NP_006235.1:p.(Arg118Gly)	NC_000011.9:g.64694336C>G	VUS	1 lab	09668e6497
1:45797890 MUTYH C>T	1	45797890	45797890	C	T	MUTYH	c.881G>A	NM_001128425.1	NP_001121897.1:p.(Arg294His)	NC_000001.10:g.45797890C>T	(Likely) benign	1 lab	9b3be15be8
2:179396142 TTN A>G	2	179396142	179396142	A	G	TTN	c.105200T>C	NM_001267550.2	NP_001254479.2:p.(Phe35067Ser)	NC_000002.11:g.179396142A>G	VUS	1 lab	9b3ef1be0a
1:216062273 USH2A C>T	1	216062273	216062273	C	T	USH2A				NC_000001.10:g.216062273C>T	(Likely) benign	1 lab	9b3f431885
X:153297692 MECP2 G>A	X	153297692	153297692	G	A	MECP2	c.379C>T	NM_001110792.2	NP_001104262.1:p.(Arg127Cys)	NC_000023.10:g.153297692G>A	VUS	1 lab	9b4ac6ccad
21:47407412 COL6A1 G>A	21	47407412	47407412	G	A	COL6A1				NC_000021.8:g.47407412G>A	(Likely) pathogenic	1 lab	9b4d8d580c
5:176638884 NSD1 C>A	5	176638884	176638884	C	A	NSD1	c.3484C>A	NM_022455.5	NP_071900.2:p.(Arg1162Ser)	NC_000005.9:g.176638884C>A	VUS	1 lab	096964be08
20:44639832 MMP9 T>G	20	44639832	44639832	T	G	MMP9	c.700T>G	NM_004994.3	NP_004985.2:p.(Phe234Val)	NC_000020.10:g.44639832T>G	VUS	1 lab	9b4e785a65
4:187195373 F11 C>T	4	187195373	187195373	C	T	F11	c.429C>T	NM_000128.3	NP_000119.1:p.(Asp143=)	NC_000004.11:g.187195373C>T	(Likely) benign	1 lab	9b4ee5e7aa
3:10183808 VHL G>A	3	10183808	10183808	G	A	VHL	c.277G>A	NM_000551.3	NP_000542.1:p.(Gly93Ser)	NC_000003.11:g.10183808G>A	(Likely) pathogenic	1 lab	9b54585ce7
7:131193739 PODXL C>T	7	131193739	131193739	C	T	PODXL	c.1072G>A	NM_001018111.2	NP_001018121.1:p.(Val358Ile)	NC_000007.13:g.131193739C>T	(Likely) benign	1 lab	9b54bda2e2
15:43906633 STRC CCAAA>C	15	43906633	43906639	CCAAA	C	STRC	c.2171_2174del	NM_153700.2	NP_714544.1:p.(Val724GlyfsTer6)	NC_000015.9:g.43906636_43906639del	(Likely) pathogenic	1 lab	9b595b28a0
2:167083110 SCN9A G>A	2	167083110	167083110	G	A	SCN9A	c.4332C>T	NM_002977.3	NP_002968.1:p.(Val1444=)	NC_000002.11:g.167083110G>A	(Likely) benign	1 lab	9b59f96b88
2:29294178 PCARE G>A	2	29294178	29294178	G	A	PCARE	c.2950C>T	NM_001029883.2	NP_001025054.1:p.(Arg984Ter)	NC_000002.11:g.29294178G>A	(Likely) pathogenic	1 lab	9b5a7ecc5b
22:32289690 DEPDC5 A>C	22	32289690	32289690	A	C	DEPDC5	c.4156A>C	NM_001242896.3	NP_001229825.1:p.(Ile1386Leu)	NC_000022.10:g.32289690A>C	VUS	1 lab	9b5b549e8d
6:32810774 PSMB8 G>C	6	32810774	32810774	G	C	PSMB8	c.240C>G	NM_148919.4	NP_683720.2:p.(Phe80Leu)	NC_000006.11:g.32810774G>C	VUS	1 lab	096a0e8c6a
X:32408274 DMD G>A	X	32408274	32408274	G	A	DMD	c.4258C>T	NM_004006.3	NP_003997.2:p.(His1420Tyr)	NC_000023.10:g.32408274G>A	VUS	1 lab	09e07b2182
2:179418075 TTN G>T	2	179418075	179418075	G	T	TTN	c.89552C>A	NM_001267550.2	NP_001254479.2:p.(Ala29851Asp)	NC_000002.11:g.179418075G>T	VUS	1 lab	9b5e2da577
16:19641142 VPS35L G>A	16	19641142	19641142	G	A	VPS35L	c.1554G>A	NM_020314.7	NP_064710.5:p.(Thr518=)	NC_000016.9:g.19641142G>A	(Likely) benign	1 lab	096b5304eb
8:94811987 TMEM67 G>A	8	94811987	94811987	G	A	TMEM67	c.2241+1G>A	NM_153704.5	NP_714915.3:p.?	NC_000008.10:g.94811987G>A	(Likely) pathogenic	1 lab	9b668f8034
12:79685854 SYT1 G>T	12	79685854	79685854	G	T	SYT1	c.418G>T	NM_005639.3	NP_005630.1:p.(Glu140Ter)	NC_000012.11:g.79685854G>T	(Likely) pathogenic	1 lab	9b67edc54d
16:2239249 CASKIN1 C>G	16	2239249	2239249	C	G	CASKIN1	c.476G>C	NM_020764.3	NP_065815.1:p.(Gly159Ala)	NC_000016.9:g.2239249C>G	(Likely) pathogenic	1 lab	9b68d80004
10:135184190 ECHS1 G>T	10	135184190	135184190	G	T	ECHS1	c.160C>A	NM_004092.3	NP_004083.3:p.(Arg54Ser)	NC_000010.10:g.135184190G>T	(Likely) pathogenic	1 lab	9b68fb2460
12:49579521 TUBA1A A>T	12	49579521	49579521	A	T	TUBA1A	c.628T>A	NM_006009.4	NP_006000.2:p.(Tyr210Asn)	NC_000012.11:g.49579521A>T	(Likely) pathogenic	1 lab	9b696d3384
17:41246602 BRCA1 T>C	17	41246602	41246602	T	C	BRCA1	c.946A>G	NM_007294.4	NP_009225.1:p.(Ser316Gly)	NC_000017.10:g.41246602T>C	(Likely) benign	1 lab	9b6af382df
X:153607874 EMD C>G	X	153607874	153607874	C	G	EMD	c.30C>G	NM_000117.2	NP_000108.1:p.(Thr10=)	NC_000023.10:g.153607874C>G	(Likely) benign	1 lab	9b6b54ed03
17:36483522 GPR179 G>T	17	36483522	36483522	G	T	GPR179	c.5930C>A	NM_001004334.2	NP_001004334.2:p.(Pro1977His)	NC_000017.10:g.36483522G>T	(Likely) benign	1 lab	9b6da31066
2:86360387 PTCD3 G>A	2	86360387	86360387	G	A	PTCD3	c.1452+8G>A	NM_017952.6	NP_060422.4:p.?	NC_000002.11:g.86360387G>A	(Likely) benign	1 lab	9b6f6df73d
9:36966681 PAX5 C>T	9	36966681	36966681	C	T	PAX5	c.645G>A	NM_016734.3	NP_057953.1:p.(Pro215=)	NC_000009.11:g.36966681C>T	(Likely) benign	1 lab	0ef4d2a1f1
11:101325783 TRPC6 A>C	11	101325783	101325783	A	C	TRPC6	c.2534T>G	NM_004621.6	NP_004612.2:p.(Leu845Arg)	NC_000011.9:g.101325783A>C	VUS	1 lab	097187fd13
4:114274427 ANK2 C>T	4	114274427	114274427	C	T	ANK2	c.4653C>T	NM_001148.5	NP_001139.3:p.(Ile1551=)	NC_000004.11:g.114274427C>T	(Likely) benign	1 lab	9b733b75ca
5:176815012 SLC34A1 C>T	5	176815012	176815012	C	T	SLC34A1	c.662C>T	NM_003052.5	NP_003043.3:p.(Thr221Met)	NC_000005.9:g.176815012C>T	VUS	1 lab	9b73c388a5
7:50611711 DDC C>T	7	50611711	50611711	C	T	DDC	c.73G>A	NM_000790.3	NP_000781.1:p.(Glu25Lys)	NC_000007.13:g.50611711C>T	(Likely) pathogenic	1 lab	9b75bdf76b
7:5568880 ACTB T>C	7	5568880	5568880	T	C	ACTB	c.275A>G	NM_001101.4	NP_001092.1:p.(Asn92Ser)	NC_000007.13:g.5568880T>C	(Likely) pathogenic	1 lab	9b790c1349
4:159629667 ETFDH C>A	4	159629667	159629667	C	A	ETFDH	c.1842C>A	NM_004453.3	NP_004444.2:p.(Tyr614Ter)	NC_000004.11:g.159629667C>A	VUS	1 lab	9b7d405b5b
13:52548914 ATP7B G>A	13	52548914	52548914	G	A	ATP7B	c.442C>T	NM_000053.4	NP_000044.2:p.(Arg148Trp)	NC_000013.10:g.52548914G>A	VUS	1 lab	09732064c5
13:35733663 NBEA A>T	13	35733663	35733663	A	T	NBEA	c.3355A>T	NM_001385012.1	NP_001371941.1:p.(Lys1119Ter)	NC_000013.10:g.35733663A>T	(Likely) pathogenic	1 lab	9b87118e36
17:45369700 ITGB3 T>C	17	45369700	45369700	T	C	ITGB3	c.1456T>C	NM_000212.3	NP_000203.2:p.(Cys486Arg)	NC_000017.10:g.45369700T>C	(Likely) pathogenic	1 lab	9b877bc95c
15:43122239 TTBK2 C>T	15	43122239	43122239	C	T	TTBK2	c.329G>A	NM_173500.4	NP_775771.3:p.(Arg110Gln)	NC_000015.9:g.43122239C>T	VUS	1 lab	9b89f2789a
1:151378180 POGZ G>A	1	151378180	151378180	G	A	POGZ	c.3331C>T	NM_015100.4	NP_055915.2:p.(Gln1111Ter)	NC_000001.10:g.151378180G>A	(Likely) pathogenic	1 lab	9b8a346b18
17:41267772 BRCA1 G>T	17	41267772	41267772	G	T	BRCA1	c.105C>A	NM_007294.4	NP_009225.1:p.(Val35=)	NC_000017.10:g.41267772G>T	(Likely) benign	1 lab	9b8d09273f
13:32953601 BRCA2 A>G	13	32953601	32953601	A	G	BRCA2	c.8902A>G	NM_000059.3	NP_000050.2:p.(Thr2968Ala)	NC_000013.10:g.32953601A>G	(Likely) benign	1 lab	9b8df9bd1c
10:64416150 ZNF365 T>C	10	64416150	64416150	T	C	ZNF365	c.1130-6T>C	NM_199451.3	NP_955523.1:p.?	NC_000010.10:g.64416150T>C	(Likely) benign	1 lab	0ef5fc6388
1:28858714 RCC1 C>T	1	28858714	28858714	C	T	RCC1	c.293C>T	NM_001381865.2	NP_001368794.1:p.(Ala98Val)	NC_000001.10:g.28858714C>T	VUS	1 lab	9b92ae3888
12:9020509 A2ML1 C>G	12	9020509	9020509	C	G	A2ML1	c.3789C>G	NM_144670.4	NP_653271.2:p.(Asn1263Lys)	NC_000012.11:g.9020509C>G	(Likely) benign	1 lab	9b94b2ae6a
7:141301024 AGK G>GA	7	141301024	141301031	G	GA	AGK	c.248dup	NM_018238.4	NP_060708.1:p.(Asn83LysfsTer17)	NC_000007.13:g.141301031dup	(Likely) pathogenic	1 lab	344a96d3d2
18:10742602 PIEZO2 A>C	18	10742602	10742602	A	C	PIEZO2	c.4451T>G	NM_022068.3	NP_071351.2:p.(Ile1484Ser)	NC_000018.9:g.10742602A>C	(Likely) pathogenic	1 lab	9b9f49a51d
17:29563030 NF1 A>T	17	29563030	29563030	A	T	NF1	c.3965A>T	NM_001042492.3	NP_001035957.1:p.(Asp1322Val)	NC_000017.10:g.29563030A>T	(Likely) benign	1 lab	9ba2350d20
2:98351066 ZAP70 C>T	2	98351066	98351066	C	T	ZAP70	c.973C>T	NM_001079.3	NP_001070.2:p.(Leu325Phe)	NC_000002.11:g.98351066C>T	(Likely) pathogenic	1 lab	9ba7b935df
19:35758757 LSR G>A	19	35758757	35758757	G	A	LSR	c.1888G>A	NM_015925.6	NP_057009.3:p.(Val630Ile)	NC_000019.9:g.35758757G>A	(Likely) benign	1 lab	9ba8f1767f
2:179574517 TTN G>T	2	179574517	179574517	G	T	TTN	c.28529C>A	NM_001267550.2	NP_001254479.2:p.(Ser9510Tyr)	NC_000002.11:g.179574517G>T	(Likely) benign	1 lab	9bae6cc8c6
2:220290471 DES AG>A	2	220290471	220290472	AG	A	DES	c.1371+5del	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290472del	VUS	1 lab	9baf4bf1d4
12:57963455 KIF5A G>A	12	57963455	57963455	G	A	KIF5A				NC_000012.11:g.57963455G>A	VUS	1 lab	a60184babc
15:59510189 MYO1E G>A	15	59510189	59510189	G	A	MYO1E	c.1008C>T	NM_004998.3	NP_004989.2:p.(Ser336=)	NC_000015.9:g.59510189G>A	(Likely) benign	1 lab	9bb33ad996
17:41246103 BRCA1 A>G	17	41246103	41246103	A	G	BRCA1	c.1445T>C	NM_007294.4	NP_009225.1:p.(Ile482Thr)	NC_000017.10:g.41246103A>G	VUS	1 lab	9bb68dc17b
14:74983596 LTBP2 G>A	14	74983596	74983596	G	A	LTBP2	c.2837C>T	NM_000428.3	NP_000419.1:p.(Thr946Ile)	NC_000014.8:g.74983596G>A	VUS	1 lab	0975e0c33c
18:12340237 AFG3L2 T>C	18	12340237	12340237	T	C	AFG3L2	c.1943A>G	NM_006796.2	NP_006787.2:p.(Asp648Gly)	NC_000018.9:g.12340237T>C	VUS	1 lab	9bbb985f63
11:1475795 BRSK2 CT>C	11	1475795	1475796	CT	C	BRSK2	c.1626del	NM_003957.3	NP_003948.2:p.(Leu543Ter)	NC_000011.9:g.1475796del	(Likely) pathogenic	1 lab	9bbbf533da
13:25480527 CPAP T>C	13	25480527	25480527	T	C	CPAP	c.1649A>G	NM_018451.5	NP_060921.3:p.(Glu550Gly)	NC_000013.10:g.25480527T>C	VUS	1 lab	097660c5e4
12:54920344 NCKAP1L C>T	12	54920344	54920344	C	T	NCKAP1L	c.2189C>T	NM_005337.5	NP_005328.2:p.(Thr730Met)	NC_000012.11:g.54920344C>T	VUS	1 lab	09784aca66
19:6719425 C3 G>A	19	6719425	6719425	G	A	C3	c.75-11C>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6719425G>A	VUS	1 lab	9bc0984e90
1:152281520 FLG C>A	1	152281520	152281520	C	A	FLG	c.5842G>T	NM_002016.2	NP_002007.1:p.(Glu1948Ter)	NC_000001.10:g.152281520C>A	(Likely) pathogenic	1 lab	9bc467fa02
1:94496053 ABCA4 G>A	1	94496053	94496053	G	A	ABCA4	c.4283C>T	NM_000350.2	NP_000341.2:p.(Thr1428Met)	NC_000001.10:g.94496053G>A	(Likely) benign	1 lab	9bc576d6b6
12:6701962 CHD4 A>C	12	6701962	6701962	A	C	CHD4	c.2674T>G	NM_001273.5	NP_001264.2:p.(Tyr892Asp)	NC_000012.11:g.6701962A>C	(Likely) pathogenic	1 lab	9bc6b31934
2:145147068 ZEB2 T>A	2	145147068	145147068	T	A	ZEB2				NC_000002.11:g.145147068T>A	VUS	1 lab	9bc7e5bff0
1:204499856 MDM4 T>G	1	204499856	204499856	T	G	MDM4	c.198T>G	NM_002393.5	NP_002384.2:p.(Tyr66Ter)	NC_000001.10:g.204499856T>G	VUS	1 lab	097abf6cea
3:193360533 OPA1 TCAGTTTTCTGTTACTATCAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATGTAAGTAAAATTCATCTAAGGTTGATATGTGTAATTTTATAACCTGGATGAGCTTATAAAAGA>T	3	193360533	193360702	TCAGTTTTCTGTTACTATCAGGTGACTCTGAGTGAAGGTCCTCACCATGTGGCCCTATTTAAAGATAGTTCTCGGGAGTTTGATCTTACCAAAGAAGAAGATGTAAGTAAAATTCATCTAAGGTTGATATGTGTAATTTTATAACCTGGATGAGCTTATAAAAGA	T	OPA1	c.1150-15_1231-62del	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193360539_193360702del	(Likely) pathogenic	1 lab	9bca503af4
16:75267734 BCAR1 G>A	16	75267734	75267734	G	A	BCAR1	c.2238+10C>T	NM_001170714.3	NP_001164185.1:p.?	NC_000016.9:g.75267734G>A	(Likely) benign	1 lab	0f0350e3bb
6:32006949 CYP21A2 C>T	6	32006949	32006949	C	T	CYP21A2	c.371C>T	NM_000500.9	NP_000491.4:p.(Thr124Ile)	NC_000006.11:g.32006949C>T	VUS	1 lab	9bce0453cc
12:49426433 KMT2D G>A	12	49426433	49426433	G	A	KMT2D	c.12055C>T	NM_003482.3	NP_003473.3:p.(Leu4019Phe)	NC_000012.11:g.49426433G>A	VUS	1 lab	9bced65a01
2:48026711 MSH6 AT>A	2	48026711	48026712	AT	A	MSH6	c.1590del	NM_000179.3	NP_000170.1:p.(Ser532LeufsTer39)	NC_000002.11:g.48026712del	(Likely) pathogenic	1 lab	9bcf417b7f
6:86203688 NT5E C>G	6	86203688	86203688	C	G	NT5E				NC_000006.11:g.86203688C>G	VUS	1 lab	9bcf8beb5c
11:125479347 STT3A C>T	11	125479347	125479347	C	T	STT3A	c.980C>T	NM_001278503.1	NP_001265432.1:p.(Thr327Met)	NC_000011.9:g.125479347C>T	VUS	1 lab	9bd33d196f
11:121036095 TECTA G>A	11	121036095	121036095	G	A	TECTA				NC_000011.9:g.121036095G>A	(Likely) benign	1 lab	9bd62f8ccb
16:2159410 PKD1 G>C	16	2159410	2159410	G	C	PKD1	c.5758C>G	NM_001009944.3	NP_001009944.3:p.(Arg1920Gly)	NC_000016.9:g.2159410G>C	VUS	1 lab	9bd70eb960
19:13198955 NFIX G>A	19	13198955	13198955	G	A	NFIX	c.1402+5G>A	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13198955G>A	VUS	1 lab	9bd83194fe
2:179594584 TTN A>G	2	179594584	179594584	A	G	TTN	c.18396T>C	NM_001267550.2	NP_001254479.2:p.(Thr6132=)	NC_000002.11:g.179594584A>G	(Likely) benign	1 lab	9bd8c3ed3c
2:73676802 ALMS1 TA>T	2	73676802	73676803	TA	T	ALMS1	c.3152del	NM_015120.4	NP_055935.4:p.(Tyr1051SerfsTer25)	NC_000002.11:g.73676803del	(Likely) pathogenic	1 lab	9bd90eeea5
X:122537277 GRIA3 T>C	X	122537277	122537277	T	C	GRIA3	c.1200T>C	NM_000828.5	NP_000819.4:p.(Asn400=)	NC_000023.10:g.122537277T>C	(Likely) benign	1 lab	097e12a540
7:91631542 AKAP9 G>A	7	91631542	91631542	G	A	AKAP9	c.2311G>A	NM_005751.4	NP_005742.4:p.(Ala771Thr)	NC_000007.13:g.91631542G>A	(Likely) benign	1 lab	9bdb082235
12:80838175 PTPRQ C>T	12	80838175	80838175	C	T	PTPRQ	c.50C>T	NM_001145026.2	NP_001138498.1:p.(Thr17Ile)	NC_000012.11:g.80838175C>T	(Likely) benign	1 lab	9bdc1d0fa2
2:179501492 TTN G>A	2	179501492	179501492	G	A	TTN	c.40962C>T	NM_001267550.2	NP_001254479.2:p.(Ala13654=)	NC_000002.11:g.179501492G>A	(Likely) benign	1 lab	9bde4c62cc
6:76582942 MYO6 T>C	6	76582942	76582942	T	C	MYO6	c.2002T>C	NM_004999.4	NP_004990.3:p.(Cys668Arg)	NC_000006.11:g.76582942T>C	VUS	1 lab	9bde5f3ca3
10:43615074 RET G>A	10	43615074	43615074	G	A	RET	c.2488G>A	NM_020975.6	NP_066124.1:p.(Gly830Arg)	NC_000010.10:g.43615074G>A	(Likely) benign	1 lab	9bdf15d834
5:74754959 CERT1 A>C	5	74754959	74754959	A	C	CERT1	c.663T>G	NM_001130105.1	NP_001123577.1:p.(Ser221Arg)	NC_000005.9:g.74754959A>C	VUS	1 lab	9bdf8a5921
12:9000236 A2ML1 G>T	12	9000236	9000236	G	T	A2ML1				NC_000012.11:g.9000236G>T	(Likely) benign	1 lab	9bdfffc484
10:73577211 PSAP T>A	10	73577211	73577211	T	A	PSAP	c.1568A>T	NM_001042466.1	NP_001035931.1:p.(His523Leu)	NC_000010.10:g.73577211T>A	VUS	1 lab	9be0a22270
2:207988936 KLF7 G>A	2	207988936	207988936	G	A	KLF7	c.295C>T	NM_003709.4	NP_003700.1:p.(Leu99Phe)	NC_000002.11:g.207988936G>A	VUS	1 lab	9be1933867
10:78771773 KCNMA1 C>T	10	78771773	78771773	C	T	KCNMA1	c.2044G>A	NM_002247.4	NP_002238.2:p.(Asp682Asn)	NC_000010.10:g.78771773C>T	VUS	1 lab	9c077630c8
7:128485076 FLNC C>T	7	128485076	128485076	C	T	FLNC	c.3557C>T	NM_001458.4	NP_001449.3:p.(Ala1186Val)	NC_000007.13:g.128485076C>T	(Likely) pathogenic	1 lab	9be58d8eba
1:11184574 MTOR A>G	1	11184574	11184574	A	G	MTOR	c.6643T>C	NM_004958.3	NP_004949.1:p.(Ser2215Pro)	NC_000001.10:g.11184574A>G	(Likely) pathogenic	1 lab	0f0473451e
X:71856148 PHKA1 A>G	X	71856148	71856148	A	G	PHKA1	c.1548T>C	NM_002637.3	NP_002628.2:p.(Thr516=)	NC_000023.10:g.71856148A>G	(Likely) benign	1 lab	9be6de8d2c
18:29104537 DSG2 G>A	18	29104537	29104537	G	A	DSG2	c.817G>A	NM_001943.3	NP_001934.2:p.(Glu273Lys)	NC_000018.9:g.29104537G>A	(Likely) benign	1 lab	9be84a5af5
2:183853818 NCKAP1 AAGAG>A	2	183853818	183853828	AAGAG	A	NCKAP1	c.901_904del	NM_205842.3	NP_995314.1:p.(Leu301PhefsTer17)	NC_000002.11:g.183853825_183853828del	(Likely) pathogenic	1 lab	097e27e86f
12:121416590 HNF1A C>T	12	121416590	121416590	C	T	HNF1A	c.19C>T	NM_000545.8	NP_000536.6:p.(Gln7Ter)	NC_000012.11:g.121416590C>T	(Likely) pathogenic	1 lab	9beb5c61fc
3:37067120 MLH1 T>TTTTTTTTTTA	3	37067120	37067121	T	TTTTTTTTTTA	MLH1	c.1039-8_1039-7insTTTTTTTTTA	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37067120_37067121insTTTTTTTTTA	(Likely) benign	1 lab	0983d9bbd5
18:34229278 FHOD3 G>GGGA	18	34229278	34229293	G	GGGA	FHOD3	c.1197-8747_1197-8745dup	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34229291_34229293dup	VUS	1 lab	09847c5e8a
4:149357405 NR3C2 G>T	4	149357405	149357405	G	T	NR3C2	c.608C>A	NM_000901.4	NP_000892.2:p.(Ser203Ter)	NC_000004.11:g.149357405G>T	(Likely) pathogenic	1 lab	9bf66ce174
22:21344718 LZTR1 C>T	22	21344718	21344718	C	T	LZTR1	c.695C>T	NM_006767.4	NP_006758.2:p.(Pro232Leu)	NC_000022.10:g.21344718C>T	VUS	1 lab	9bfb0b6843
1:201341216 TNNT2 G>C	1	201341216	201341216	G	C	TNNT2	c.53-47C>G	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341216G>C	(Likely) benign	1 lab	9bfe45cce2
5:112173374 APC C>T	5	112173374	112173374	C	T	APC	c.2083C>T	NM_000038.6	NP_000029.2:p.(Gln695Ter)	NC_000005.9:g.112173374C>T	(Likely) pathogenic	1 lab	9c02b1a1c6
19:54621676 PRPF31 G>C	19	54621676	54621676	G	C	PRPF31	c.18G>C	NM_015629.4	NP_056444.3:p.(Glu6Asp)	NC_000019.9:g.54621676G>C	VUS	1 lab	9c0db45cf2
8:103244439 RRM2B G>A	8	103244439	103244439	G	A	RRM2B	c.142C>T	NM_015713.5	NP_056528.2:p.(Gln48Ter)	NC_000008.10:g.103244439G>A	(Likely) pathogenic	1 lab	9c0e752c95
13:20763726 GJB2 A>T	13	20763726	20763726	A	T	GJB2	c.-6T>A	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20763726A>T	(Likely) benign	1 lab	9c4458176f
1:152280782 FLG A>G	1	152280782	152280782	A	G	FLG	c.6580T>C	NM_002016.1	NP_002007.1:p.(Tyr2194His)	NC_000001.10:g.152280782A>G	(Likely) benign	1 lab	9c10dc6cde
1:41296980 KCNQ4 A>G	1	41296980	41296980	A	G	KCNQ4	c.1513+4A>G	NM_004700.4	NP_004691.2:p.?	NC_000001.10:g.41296980A>G	VUS	1 lab	9c127a6b45
19:48339602 CRX C>T	19	48339602	48339602	C	T	CRX	c.203C>T	NM_000554.4	NP_000545.1:p.(Ala68Val)	NC_000019.9:g.48339602C>T	VUS	1 lab	9c17bf9128
3:189607267 TP63 T>C	3	189607267	189607267	T	C	TP63	c.1646T>C	NM_003722.4	NP_003713.3:p.(Ile549Thr)	NC_000003.11:g.189607267T>C	(Likely) pathogenic	1 lab	9c1a025cda
12:89864149 POC1B G>A	12	89864149	89864149	G	A	POC1B	c.799C>T	NM_172240.3	NP_758440.1:p.(Gln267Ter)	NC_000012.11:g.89864149G>A	(Likely) pathogenic	1 lab	9c1eac9471
20:61449867 COL9A3 CA>C	20	61449867	61449868	CA	C	COL9A3	c.148-2del	NM_001853.3	NP_001844.3:p.?	NC_000020.10:g.61449868del	(Likely) pathogenic	1 lab	9c1f879fe8
11:47356144 MYBPC3 CTCTG>C	11	47356144	47356150	CTCTG	C	MYBPC3	c.2905+445_2905+448del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47356147_47356150del	(Likely) pathogenic	1 lab	9c209f38e8
7:128492708 FLNC T>C	7	128492708	128492708	T	C	FLNC	c.5906T>C	NM_001458.4	NP_001449.3:p.(Ile1969Thr)	NC_000007.13:g.128492708T>C	VUS	1 lab	9c7edba2f6
1:228521333 OBSCN C>T	1	228521333	228521333	C	T	OBSCN	c.18777C>T	NM_001271223.2	NP_001258152.2:p.(Thr6259=)	NC_000001.10:g.228521333C>T	(Likely) benign	1 lab	9c26ccd5f4
19:55666188 TNNI3 C>T	19	55666188	55666188	C	T	TNNI3	c.293G>A	NM_000363.4	NP_000354.4:p.(Arg98Gln)	NC_000019.9:g.55666188C>T	VUS	1 lab	9c28307994
2:167143001 SCN9A T>G	2	167143001	167143001	T	G	SCN9A	c.1447A>C	NM_002977.3	NP_002968.1:p.(Lys483Gln)	NC_000002.11:g.167143001T>G	(Likely) benign	1 lab	9c28d86b2f
1:237819103 RYR2 G>T	1	237819103	237819103	G	T	RYR2	c.7966-18G>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237819103G>T	(Likely) benign	1 lab	9c2d4c496b
4:151505251 MAB21L2 A>T	4	151505251	151505251	A	T	MAB21L2	c.1070A>T	NM_006439.5	NP_006430.1:p.(Asp357Val)	NC_000004.11:g.151505251A>T	VUS	1 lab	9c3092882a
9:129455597 LMX1B C>T	9	129455597	129455597	C	T	LMX1B	c.736C>T	NM_002316.3	NP_002307.2:p.(Arg246Ter)	NC_000009.11:g.129455597C>T	(Likely) pathogenic	1 lab	9c32af41b2
16:16248588 ABCC6 CG>C	16	16248588	16248589	CG	C	ABCC6	c.4104del	NM_001171.5	NP_001162.4:p.(Asp1368GlufsTer35)	NC_000016.9:g.16248589del	VUS	1 lab	9c34fc0865
11:4112582 STIM1 C>T	11	4112582	4112582	C	T	STIM1	c.1930C>T	NM_001277961.1	NP_001264890.1:p.(Pro644Ser)	NC_000011.9:g.4112582C>T	(Likely) benign	1 lab	9c352e2445
16:1524850 CLCN7 A>G	16	1524850	1524850	A	G	CLCN7	c.126T>C	NM_001287.5	NP_001278.1:p.(Pro42=)	NC_000016.9:g.1524850A>G	(Likely) benign	1 lab	9c37b27cf3
2:220283154 DES T>A	2	220283154	220283154	T	A	DES	c.-31T>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220283154T>A	(Likely) benign	1 lab	9c38fabc7e
12:49421930 KMT2D A>T	12	49421930	49421930	A	T	KMT2D	c.14383-6T>A	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49421930A>T	(Likely) pathogenic	1 lab	9c3ba3f0e4
2:179463552 TTN C>T	2	179463552	179463552	C	T	TTN	c.30065G>A	NM_133432.3	NP_597676.3:p.(Arg10022Gln)	NC_000002.11:g.179463552C>T	VUS	1 lab	0f077f551f
5:112174865 APC A>T	5	112174865	112174865	A	T	APC	c.3574A>T	NM_000038.5	NP_000029.2:p.(Lys1192Ter)	NC_000005.9:g.112174865A>T	(Likely) pathogenic	1 lab	9c3ee342a7
16:57951339 CNGB1 A>G	16	57951339	57951339	A	G	CNGB1	c.1999T>C	NM_001297.4	NP_001288.3:p.(Trp667Arg)	NC_000016.9:g.57951339A>G	VUS	1 lab	9c437d9e42
X:29973546 IL1RAPL1 T>C	X	29973546	29973546	T	C	IL1RAPL1	c.1700T>C	NM_014271.3	NP_055086.1:p.(Ile567Thr)	NC_000023.10:g.29973546T>C	VUS	1 lab	9c4499e759
15:63353404 TPM1 C>T	15	63353404	63353404	C	T	TPM1	c.571C>T	NM_000366.6	NP_000357.3:p.(Arg191Ter)	NC_000015.9:g.63353404C>T	VUS	1 lab	098d4ab05c
7:47925608 PKD1L1 C>T	7	47925608	47925608	C	T	PKD1L1	c.2881G>A	NM_138295.4	NP_612152.1:p.(Gly961Ser)	NC_000007.13:g.47925608C>T	(Likely) benign	1 lab	9c46d9745e
X:154134814 F8 C>G	X	154134814	154134814	C	G	F8	c.5254G>C	NM_000132.3	NP_000123.1:p.(Val1752Leu)	NC_000023.10:g.154134814C>G	(Likely) pathogenic	1 lab	0f0888516a
3:37035159 MLH1 G>C	3	37035159	37035159	G	C	MLH1	c.116+5G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37035159G>C	(Likely) pathogenic	1 lab	9c4f688d75
3:52440255 BAP1 GA>G	3	52440255	52440258	GA	G	BAP1	c.783+13del	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52440258del	(Likely) benign	1 lab	9c5085840d
14:20920511 OSGEP A>G	14	20920511	20920511	A	G	OSGEP	c.212T>C	NM_017807.4	NP_060277.1:p.(Ile71Thr)	NC_000014.8:g.20920511A>G	VUS	1 lab	09910f9eae
12:12334106 LRP6 C>T	12	12334106	12334106	C	T	LRP6	c.1244G>A	NM_002336.3	NP_002327.2:p.(Arg415Gln)	NC_000012.11:g.12334106C>T	VUS	1 lab	0993f4011e
2:179426307 TTN A>C	2	179426307	179426307	A	C	TTN	c.84552T>G	NM_001267550.2	NP_001254479.2:p.(Ser28184Arg)	NC_000002.11:g.179426307A>C	VUS	1 lab	9c595e7921
1:110170727 AMPD2 C>T	1	110170727	110170727	C	T	AMPD2				NC_000001.10:g.110170727C>T	(Likely) pathogenic	1 lab	acf5ed78cf
6:7583329 DSP GC>G	6	7583329	7583332	GC	G	DSP	c.5837del	NM_004415.4	NP_004406.2:p.(Pro1946HisfsTer26)	NC_000006.11:g.7583332del	(Likely) pathogenic	1 lab	0996b4846c
1:197026289 F13B A>G	1	197026289	197026289	A	G	F13B	c.1025T>C	NM_001994.2	NP_001985.2:p.(Ile342Thr)	NC_000001.10:g.197026289A>G	(Likely) benign	1 lab	9c6307579a
18:12340286 AFG3L2 G>C	18	12340286	12340286	G	C	AFG3L2	c.1894C>G	NM_006796.2	NP_006787.2:p.(Arg632Gly)	NC_000018.9:g.12340286G>C	VUS	1 lab	9c63409ec0
12:6131959 VWF G>A	12	6131959	6131959	G	A	VWF	c.3485C>T	NM_000552.3	NP_000543.2:p.(Pro1162Leu)	NC_000012.11:g.6131959G>A	(Likely) benign	1 lab	9c67ee0452
1:94486794 ABCA4 A>G	1	94486794	94486794	A	G	ABCA4	c.5018+2T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94486794A>G	(Likely) pathogenic	1 lab	9c6a4ea623
2:168107352 XIRP2 T>C	2	168107352	168107352	T	C	XIRP2	c.9450T>C	NM_152381.5	NP_689594.4:p.(Tyr3150=)	NC_000002.11:g.168107352T>C	(Likely) benign	1 lab	9c6bb63843
5:14507269 TRIO G>A	5	14507269	14507269	G	A	TRIO	c.8651G>A	NM_007118.4	NP_009049.2:p.(Trp2884Ter)	NC_000005.9:g.14507269G>A	(Likely) pathogenic	1 lab	9c74a36f4d
10:69957135 MYPN A>T	10	69957135	69957135	A	T	MYPN	c.3185A>T	NM_032578.3	NP_115967.2:p.(Asp1062Val)	NC_000010.10:g.69957135A>T	VUS	1 lab	9c798a4e6c
2:217277249 SMARCAL1 C>T	2	217277249	217277249	C	T	SMARCAL1	c.-218C>T	NM_014140.3	NP_054859.2:p.?	NC_000002.11:g.217277249C>T	(Likely) benign	1 lab	9cc08c2683
5:112174784 APC A>T	5	112174784	112174784	A	T	APC	c.3493A>T	NM_000038.5	NP_000029.2:p.(Lys1165Ter)	NC_000005.9:g.112174784A>T	(Likely) pathogenic	1 lab	9c7bf015e5
2:228128568 COL4A3 G>A	2	228128568	228128568	G	A	COL4A3	c.1223G>A	NM_000091.4	NP_000082.2:p.(Arg408His)	NC_000002.11:g.228128568G>A	(Likely) benign	1 lab	9c7c67329c
1:7796991 CAMTA1 T>G	1	7796991	7796991	T	G	CAMTA1	c.3264T>G	NM_015215.4	NP_056030.1:p.(Arg1088=)	NC_000001.10:g.7796991T>G	(Likely) benign	1 lab	0997d0e44b
1:150990336 PRUNE1 G>A	1	150990336	150990336	G	A	PRUNE1	c.88G>A	NM_021222.2	NP_067045.1:p.(Asp30Asn)	NC_000001.10:g.150990336G>A	(Likely) pathogenic	1 lab	9c84da71a5
19:50826924 KCNC3 C>T	19	50826924	50826924	C	T	KCNC3	c.1286G>A	NM_004977.2	NP_004968.2:p.(Arg429Gln)	NC_000019.9:g.50826924C>T	VUS	1 lab	9c84fd6be2
3:38739152 SCN10A A>C	3	38739152	38739152	A	C	SCN10A	c.5559T>G	NM_006514.3	NP_006505.3:p.(Ile1853Met)	NC_000003.11:g.38739152A>C	(Likely) benign	1 lab	9c872df699
12:6174353 VWF C>T	12	6174353	6174353	C	T	VWF	c.1243G>A	NM_000552.3	NP_000543.2:p.(Ala415Thr)	NC_000012.11:g.6174353C>T	VUS	1 lab	9c89847857
2:74689719 MOGS A>G	2	74689719	74689719	A	G	MOGS	c.1197T>C	NM_006302.3	NP_006293.2:p.(Leu399=)	NC_000002.11:g.74689719A>G	(Likely) benign	1 lab	0f0a08d0b8
2:166896045 SCN1A T>C	2	166896045	166896045	T	C	SCN1A	c.2477A>G	NM_001165963.4	NP_001159435.1:p.(Tyr826Cys)	NC_000002.11:g.166896045T>C	VUS	1 lab	9c8a9d3f13
22:31008962 TCN2 G>A	22	31008962	31008962	G	A	TCN2				NC_000022.10:g.31008962G>A	(Likely) benign	1 lab	0f0bc956d6
1:179520577 NPHS2 C>T	1	179520577	179520577	C	T	NPHS2	c.883G>A	NM_014625.4	NP_055440.1:p.(Ala295Thr)	NC_000001.10:g.179520577C>T	VUS	1 lab	9c8dced950
19:51207055 SHANK1 G>A	19	51207055	51207055	G	A	SHANK1	c.1255C>T	NM_016148.5	NP_057232.2:p.(Arg419Trp)	NC_000019.9:g.51207055G>A	VUS	1 lab	099acbd0e1
9:140057090 GRIN1 G>A	9	140057090	140057090	G	A	GRIN1	c.1912G>A	NM_007327.4	NP_015566.1:p.(Gly638Ser)	NC_000009.11:g.140057090G>A	(Likely) pathogenic	1 lab	9c97efc1bf
8:10465190 RP1L1 C>T	8	10465190	10465190	C	T	RP1L1	c.6418G>A	NM_178857.5	NP_849188.4:p.(Glu2140Lys)	NC_000008.10:g.10465190C>T	(Likely) benign	1 lab	9c98cb785b
17:60637440 TLK2 C>T	17	60637440	60637440	C	T	TLK2	c.784C>T	NM_006852.6	NP_006843.2:p.(Arg262Ter)	NC_000017.10:g.60637440C>T	(Likely) pathogenic	1 lab	9c9c95b6e3
2:32340881 SPAST T>TA	2	32340881	32340882	T	TA	SPAST	c.982dup	NM_014946.3	NP_055761.2:p.(Ile328AsnfsTer4)	NC_000002.11:g.32340882dup	(Likely) pathogenic	1 lab	9c9cac77ee
4:114208831 ANK2 A>C	4	114208831	114208831	A	C	ANK2	c.2150A>C	NM_001148.5	NP_001139.3:p.(His717Pro)	NC_000004.11:g.114208831A>C	(Likely) benign	1 lab	9c9dd65899
2:190428600 SLC40A1 C>T	2	190428600	190428600	C	T	SLC40A1	c.1112G>A	NM_014585.5	NP_055400.1:p.(Arg371Gln)	NC_000002.11:g.190428600C>T	(Likely) benign	1 lab	9ca0fa1f54
16:15835444 MYH11 C>T	16	15835444	15835444	C	T	MYH11	c.2735G>A	NM_002474.3	NP_002465.1:p.(Arg912Gln)	NC_000016.9:g.15835444C>T	VUS	1 lab	9ca52dab21
1:237947059 RYR2 T>A	1	237947059	237947059	T	A	RYR2	c.12047T>A	NM_001035.3	NP_001026.2:p.(Phe4016Tyr)	NC_000001.10:g.237947059T>A	VUS	1 lab	099c83094c
8:145583493 SLC52A2 T>C	8	145583493	145583493	T	C	SLC52A2	c.341T>C	NM_024531.5	NP_078807.1:p.(Phe114Ser)	NC_000008.10:g.145583493T>C	VUS	1 lab	9ca95fcbc4
17:48273524 COL1A1 C>G	17	48273524	48273524	C	G	COL1A1	c.994G>C	NM_000088.3	NP_000079.2:p.(Gly332Arg)	NC_000017.10:g.48273524C>G	(Likely) pathogenic	1 lab	9cabb5b6cd
4:47939672 CNGA1 C>G	4	47939672	47939672	C	G	CNGA1	c.839G>C	NM_000087.3	NP_000078.2:p.(Arg280Pro)	NC_000004.11:g.47939672C>G	VUS	1 lab	9cae299cd7
15:67457634 SMAD3 C>G	15	67457634	67457634	C	G	SMAD3	c.444C>G	NM_005902.3	NP_005893.1:p.(Ala148=)	NC_000015.9:g.67457634C>G	(Likely) benign	1 lab	9caf16111e
3:120347374 HGD T>G	3	120347374	120347374	T	G	HGD	c.1191A>C	NM_000187.4	NP_000178.2:p.(Ala397=)	NC_000003.11:g.120347374T>G	(Likely) benign	1 lab	9caf96b3f3
X:154490402 MISSING G>T	X	154490402	154490402	G	T	MISSING				NC_000023.10:g.154490402G>T	VUS	1 lab	ae9beb3a3d
16:3781372 CREBBP C>T	16	3781372	3781372	C	T	CREBBP	c.4993G>A	NM_004380.3	NP_004371.2:p.(Asp1665Asn)	NC_000016.9:g.3781372C>T	(Likely) benign	1 lab	9cb28145ba
14:23888414 MYH7 A>T	14	23888414	23888414	A	T	MYH7	c.3944T>A	NM_000257.4	NP_000248.2:p.(Leu1315His)	NC_000014.8:g.23888414A>T	VUS	1 lab	9cb619ebe7
17:7097695 DLG4 C>T	17	7097695	7097695	C	T	DLG4	c.1421G>A	NM_001321075.3	NP_001308004.1:p.(Arg474Gln)	NC_000017.10:g.7097695C>T	VUS	1 lab	9cb920624a
10:68687597 CTNNA3 G>A	10	68687597	68687597	G	A	CTNNA3	c.1048-152315C>T	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.68687597G>A	(Likely) benign	1 lab	9cbd63ffc4
15:93540199 CHD2 G>A	15	93540199	93540199	G	A	CHD2	c.3608G>A	NM_001271.4	NP_001262.3:p.(Gly1203Glu)	NC_000015.9:g.93540199G>A	VUS	1 lab	9cc1f03cd9
2:32362003 SPAST G>A	2	32362003	32362003	G	A	SPAST	c.1379G>A	NM_014946.3	NP_055761.2:p.(Arg460His)	NC_000002.11:g.32362003G>A	VUS	1 lab	9cc2af0eb5
20:16359703 KIF16B G>A	20	16359703	16359703	G	A	KIF16B	c.2944C>T	NM_001199866.1	NP_001186795.1:p.(Gln982Ter)	NC_000020.10:g.16359703G>A	(Likely) pathogenic	1 lab	9cc304d6c9
2:215632255 BARD1 C>T	2	215632255	215632255	C	T	BARD1	c.1519G>A	NM_000465.4	NP_000456.2:p.(Val507Met)	NC_000002.11:g.215632255C>T	(Likely) benign	1 lab	9cc3464b80
3:38760283 SCN10A G>A	3	38760283	38760283	G	A	SCN10A	c.3542C>T	NM_006514.3	NP_006505.3:p.(Thr1181Met)	NC_000003.11:g.38760283G>A	(Likely) benign	1 lab	9cc39f108b
11:67933381 KMT5B T>C	11	67933381	67933381	T	C	KMT5B	c.1174+1068A>G	NM_017635.5	NP_060105.3:p.?	NC_000011.9:g.67933381T>C	VUS	1 lab	186eb40574
X:118985837 UPF3B C>T	X	118985837	118985837	C	T	UPF3B	c.157-1G>A	NM_080632.3	NP_542199.1:p.?	NC_000023.10:g.118985837C>T	(Likely) pathogenic	1 lab	9cc785e82b
18:21269704 LAMA3 G>C	18	21269704	21269704	G	C	LAMA3	c.57G>C	NM_198129.4	NP_937762.2:p.(Thr19=)	NC_000018.9:g.21269704G>C	(Likely) benign	1 lab	099e475923
2:45169902 SIX3 T>C	2	45169902	45169902	T	C	SIX3	c.659T>C	NM_005413.3	NP_005404.1:p.(Leu220Pro)	NC_000002.11:g.45169902T>C	(Likely) pathogenic	1 lab	9ccc593bd7
22:21342316 LZTR1 A>G	22	21342316	21342316	A	G	LZTR1	c.418A>G	NM_006767.4	NP_006758.2:p.(Ile140Val)	NC_000022.10:g.21342316A>G	VUS	1 lab	9ccfd3d0ed
16:56919186 SLC12A3 G>A	16	56919186	56919186	G	A	SLC12A3	c.1835G>A	NM_000339.2	NP_000330.2:p.(Trp612Ter)	NC_000016.9:g.56919186G>A	(Likely) pathogenic	1 lab	9cd07d1f8f
1:152282573 FLG CCTGA>C	1	152282573	152282579	CCTGA	C	FLG	c.4785_4788del	NM_002016.2	NP_002007.1:p.(Ser1595ArgfsTer110)	NC_000001.10:g.152282576_152282579del	(Likely) pathogenic	1 lab	9cd10c8e1f
17:41267742 BRCA1 C>T	17	41267742	41267742	C	T	BRCA1	c.134+1G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41267742C>T	(Likely) pathogenic	1 lab	9cd11d3c1f
7:140501287 BRAF T>G	7	140501287	140501287	T	G	BRAF	c.785A>C	NM_004333.5	NP_004324.2:p.(Gln262Pro)	NC_000007.13:g.140501287T>G	(Likely) pathogenic	1 lab	9cd46e503c
1:245022129 HNRNPU A>G	1	245022129	245022129	A	G	HNRNPU	c.1132T>C	NM_031844.2	NP_114032.2:p.(Ser378Pro)	NC_000001.10:g.245022129A>G	(Likely) pathogenic	1 lab	9cd58e6c38
1:11334109 UBIAD1 A>G	1	11334109	11334109	A	G	UBIAD1	c.521A>G	NM_013319.2	NP_037451.1:p.(Tyr174Cys)	NC_000001.10:g.11334109A>G	(Likely) pathogenic	1 lab	9cd6b3ebfd
8:42957748 POMK C>A	8	42957748	42957748	C	A	POMK	c.-22+5C>A	NM_032237.5	NP_115613.1:p.?	NC_000008.10:g.42957748C>A	(Likely) benign	1 lab	099f62a1cd
15:89866012 POLG T>C	15	89866012	89866012	T	C	POLG	c.2387A>G	NM_002693.2	NP_002684.1:p.(Lys796Arg)	NC_000015.9:g.89866012T>C	(Likely) pathogenic	1 lab	9cddf4ee3c
3:191093310 CCDC50 A>G	3	191093310	191093310	A	G	CCDC50	c.908A>G	NM_178335.3	NP_848018.1:p.(Lys303Arg)	NC_000003.11:g.191093310A>G	(Likely) benign	1 lab	099f6833fa
5:112174253 APC G>T	5	112174253	112174253	G	T	APC	c.2962G>T	NM_000038.6	NP_000029.2:p.(Glu988Ter)	NC_000005.9:g.112174253G>T	(Likely) pathogenic	1 lab	9ce0cf5c88
1:85020683 CTBS C>G	1	85020683	85020683	C	G	CTBS	c.1157G>C	NM_004388.2	NP_004379.1:p.(Ter386SerextTer40)	NC_000001.10:g.85020683C>G	VUS	1 lab	9ce3cb3bfc
7:80293761 CD36 G>A	7	80293761	80293761	G	A	CD36	c.649G>A	NM_001001548.2	NP_001001548.1:p.(Gly217Arg)	NC_000007.13:g.80293761G>A	VUS	1 lab	9ce40dc667
2:232952278 DIS3L2 C>T	2	232952278	232952278	C	T	DIS3L2	c.448C>T	NM_152383.4	NP_689596.4:p.(Leu150Phe)	NC_000002.11:g.232952278C>T	(Likely) benign	1 lab	9ce474a763
10:88446896 LDB3 G>A	10	88446896	88446896	G	A	LDB3	c.415G>A	NM_001080114.1	NP_001073583.1:p.(Glu139Lys)	NC_000010.10:g.88446896G>A	(Likely) benign	1 lab	9ce4b4627e
17:48245297 SGCA C>T	17	48245297	48245297	C	T	SGCA	c.313-11C>T	NM_000023.3	NP_000014.1:p.?	NC_000017.10:g.48245297C>T	(Likely) benign	1 lab	9ce6e36763
19:38976274 RYR1 G>A	19	38976274	38976274	G	A	RYR1	c.4979G>A	NM_000540.3	NP_000531.2:p.(Arg1660His)	NC_000019.9:g.38976274G>A	(Likely) benign	1 lab	9ce8c54a9d
5:102513389 PPIP5K2 A>T	5	102513389	102513389	A	T	PPIP5K2	c.2551A>T	NM_001276277.3	NP_001263206.1:p.(Lys851Ter)	NC_000005.9:g.102513389A>T	VUS	1 lab	9cec82ace0
2:179528740 TTN A>G	2	179528740	179528740	A	G	TTN	c.36364+2T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528740A>G	VUS	1 lab	09a0237c19
7:128488624 FLNC G>T	7	128488624	128488624	G	T	FLNC	c.4590G>T	NM_001458.5	NP_001449.3:p.(Lys1530Asn)	NC_000007.13:g.128488624G>T	VUS	1 lab	9ced3ae128
2:46986416 SOCS5 A>G	2	46986416	46986416	A	G	SOCS5	c.747A>G	NM_014011.4	NP_054730.1:p.(Thr249=)	NC_000002.11:g.46986416A>G	(Likely) benign	1 lab	9cedacdf33
4:126336294 FAT4 T>G	4	126336294	126336294	T	G	FAT4	c.6176T>G	NM_001291303.3	NP_001278232.1:p.(Ile2059Ser)	NC_000004.11:g.126336294T>G	VUS	1 lab	9cee754822
12:51404472 SLC11A2 A>C	12	51404472	51404472	A	C	SLC11A2	c.34+6T>G	NM_000617.2	NP_000608.1:p.?	NC_000012.11:g.51404472A>C	(Likely) benign	1 lab	9cf1267dcb
1:201018205 CACNA1S C>T	1	201018205	201018205	C	T	CACNA1S	c.4264G>A	NM_000069.2	NP_000060.2:p.(Val1422Met)	NC_000001.10:g.201018205C>T	VUS	1 lab	9cf15ddf9b
7:98591280 TRRAP G>A	7	98591280	98591280	G	A	TRRAP	c.9838G>A	NM_003496.3	NP_003487.1:p.(Glu3280Lys)	NC_000007.13:g.98591280G>A	VUS	1 lab	9cf1d6c208
X:153199915 NAA10 A>C	X	153199915	153199915	A	C	NAA10	c.35T>G	NM_003491.4	NP_003482.1:p.(Met12Arg)	NC_000023.10:g.153199915A>C	VUS	1 lab	9cf384ddf0
1:26392834 TRIM63 C>A	1	26392834	26392834	C	A	TRIM63	c.257G>T	NM_032588.3	NP_115977.2:p.(Arg86Leu)	NC_000001.10:g.26392834C>A	VUS	1 lab	9cf4f6f132
15:49031199 CEP152 AAC>A	15	49031199	49031202	AAC	A	CEP152	c.4378_4379del	NM_001194998.1	NP_001181927.1:p.(Val1460PhefsTer3)	NC_000015.9:g.49031201_49031202del	(Likely) benign	1 lab	9cf8743fbc
10:50732341 ERCC6 C>A	10	50732341	50732341	C	A	ERCC6	c.1135G>T	NM_000124.4	NP_000115.1:p.(Glu379Ter)	NC_000010.10:g.50732341C>A	(Likely) pathogenic	1 lab	9cfa39da0b
1:17359608 SDHB T>C	1	17359608	17359608	T	C	SDHB	c.233A>G	NM_003000.3	NP_002991.2:p.(Lys78Arg)	NC_000001.10:g.17359608T>C	VUS	1 lab	9cfb2b7bda
22:21340138 LZTR1 T>C	22	21340138	21340138	T	C	LZTR1	c.272T>C	NM_006767.4	NP_006758.2:p.(Met91Thr)	NC_000022.10:g.21340138T>C	(Likely) pathogenic	1 lab	9cfcf15597
17:80788465 TBCD T>C	17	80788465	80788465	T	C	TBCD	c.1318+15655T>C	NM_005993.5	NP_005984.3:p.?	NC_000017.10:g.80788465T>C	(Likely) benign	1 lab	09a3cbf322
2:220291180 DES G>T	2	220291180	220291180	G	T	DES	c.*468G>T	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220291180G>T	(Likely) benign	1 lab	9cffc48db6
11:47371335 MYBPC3 C>T	11	47371335	47371335	C	T	MYBPC3	c.644G>A	NM_000256.3	NP_000247.2:p.(Arg215His)	NC_000011.9:g.47371335C>T	VUS	1 lab	9d00b9f393
7:6029469 PMS2 T>G	7	6029469	6029469	T	G	PMS2	c.1106A>C	NM_000535.7	NP_000526.2:p.(Lys369Thr)	NC_000007.13:g.6029469T>G	VUS	1 lab	9d015d6977
19:46273788 DMPK G>A	19	46273788	46273788	G	A	DMPK	c.1829C>T	NM_001081562.3	NP_001075031.1:p.(Ser610Leu)	NC_000019.9:g.46273788G>A	(Likely) benign	1 lab	09a49543a2
19:13325497 CACNA1A T>C	19	13325497	13325497	T	C	CACNA1A	c.5750-75A>G	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13325497T>C	(Likely) benign	1 lab	0f0ced9d6e
14:105174848 INF2 G>A	14	105174848	105174848	G	A	INF2	c.1811G>A	NM_022489.3	NP_071934.3:p.(Arg604Gln)	NC_000014.8:g.105174848G>A	(Likely) benign	1 lab	0f0db44299
14:24724243 TGM1 T>C	14	24724243	24724243	T	C	TGM1	c.1862A>G	NM_000359.2	NP_000350.1:p.(Tyr621Cys)	NC_000014.8:g.24724243T>C	(Likely) pathogenic	1 lab	9d10d83900
6:133783812 EYA4 C>T	6	133783812	133783812	C	T	EYA4	c.634C>T	NM_004100.4	NP_004091.3:p.(Gln212Ter)	NC_000006.11:g.133783812C>T	(Likely) pathogenic	1 lab	9d148009aa
6:56392293 DST T>C	6	56392293	56392293	T	C	DST	c.11563A>G	NM_001144769.2	NP_001138241.1:p.(Lys3855Glu)	NC_000006.11:g.56392293T>C	VUS	1 lab	9d1614192e
6:76602357 MYO6 T>G	6	76602357	76602357	T	G	MYO6	c.3057T>G	NM_004999.3	NP_004990.3:p.(Ser1019Arg)	NC_000006.11:g.76602357T>G	VUS	1 lab	9d19755974
11:108106566 ATM G>A	11	108106566	108106566	G	A	ATM	c.496+5G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108106566G>A	(Likely) pathogenic	1 lab	9d1b22fdd4
5:127727713 FBN2 A>G	5	127727713	127727713	A	G	FBN2	c.1601T>C	NM_001999.4	NP_001990.2:p.(Ile534Thr)	NC_000005.9:g.127727713A>G	VUS	1 lab	9d2783a380
7:35242235 TBX20 T>C	7	35242235	35242235	T	C	TBX20	c.1151A>G	NM_001077653.2	NP_001071121.1:p.(Gln384Arg)	NC_000007.13:g.35242235T>C	VUS	1 lab	9d293067db
16:21747697 OTOA A>C	16	21747697	21747697	A	C	OTOA	c.2417A>C	NM_144672.3	NP_653273.3:p.(Tyr806Ser)	NC_000016.9:g.21747697A>C	(Likely) benign	1 lab	9d2b80cb68
1:120282990 PHGDH G>A	1	120282990	120282990	G	A	PHGDH	c.946-19G>A	NM_006623.4	NP_006614.2:p.?	NC_000001.10:g.120282990G>A	(Likely) benign	1 lab	0f12c27ec4
10:85955303 CDHR1 G>C	10	85955303	85955303	G	C	CDHR1	c.109G>C	NM_033100.3	NP_149091.1:p.(Gly37Arg)	NC_000010.10:g.85955303G>C	VUS	1 lab	9d2de855d0
16:89603156 SPG7 CCTT>C	16	89603156	89603164	CCTT	C	SPG7	c.1324+4118_1324+4120del	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89603162_89603164del	(Likely) benign	1 lab	09a960d109
9:138683980 KCNT1 C>T	9	138683980	138683980	C	T	KCNT1	c.3681C>T	NM_020822.2	NP_065873.2:p.(Pro1227=)	NC_000009.11:g.138683980C>T	(Likely) benign	1 lab	9d322ae478
17:40469207 STAT3 C>T	17	40469207	40469207	C	T	STAT3	c.2137G>A	NM_139276.2	NP_644805.1:p.(Val713Met)	NC_000017.10:g.40469207C>T	(Likely) pathogenic	1 lab	9d33afa4b0
11:76903126 MYO7A G>A	11	76903126	76903126	G	A	MYO7A	c.3955G>A	NM_000260.3	NP_000251.3:p.(Val1319Ile)	NC_000011.9:g.76903126G>A	(Likely) benign	1 lab	9d3718be53
8:61773526 CHD7 C>T	8	61773526	61773526	C	T	CHD7	c.7672C>T	NM_017780.3	NP_060250.2:p.(Pro2558Ser)	NC_000008.10:g.61773526C>T	(Likely) benign	1 lab	9d39a5b7b0
16:56534926 BBS2 G>A	16	56534926	56534926	G	A	BBS2	c.1237C>T	NM_031885.5	NP_114091.4:p.(Arg413Ter)	NC_000016.9:g.56534926G>A	(Likely) pathogenic	1 lab	9d3e4e850e
6:65707577 EYS G>A	6	65707577	65707577	G	A	EYS	c.2157C>T	NM_001142800.1	NP_001136272.1:p.(Cys719=)	NC_000006.11:g.65707577G>A	(Likely) benign	1 lab	9d41b80f94
10:73501494 CDH23 A>T	10	73501494	73501494	A	T	CDH23	c.4661A>T	NM_022124.5	NP_071407.4:p.(Asp1554Val)	NC_000010.10:g.73501494A>T	VUS	1 lab	9d434afb88
15:72109945 NR2E3 C>T	15	72109945	72109945	C	T	NR2E3	c.1153C>T	NM_014249.2	NP_055064.1:p.(Arg385Cys)	NC_000015.9:g.72109945C>T	VUS	1 lab	9d4512fc2d
11:103327013 DYNC2H1 C>T	11	103327013	103327013	C	T	DYNC2H1	c.12598C>T	NM_001080463.1	NP_001073932.1:p.(Arg4200Cys)	NC_000011.9:g.103327013C>T	(Likely) benign	1 lab	9d4554a3ec
5:90074406 ADGRV1 C>T	5	90074406	90074406	C	T	ADGRV1	c.12829C>T	NM_032119.3	NP_115495.3:p.(Arg4277Ter)	NC_000005.9:g.90074406C>T	(Likely) pathogenic	1 lab	9d46a0c7ee
2:25470588 DNMT3A C>T	2	25470588	25470588	C	T	DNMT3A	c.886G>A	NM_175629.2	NP_783328.1:p.(Val296Met)	NC_000002.11:g.25470588C>T	VUS	1 lab	9d494d7510
2:202566584 ALS2 T>G	2	202566584	202566584	T	G	ALS2	c.4964A>C	NM_020919.4	NP_065970.2:p.(Lys1655Thr)	NC_000002.11:g.202566584T>G	VUS	1 lab	09aa445630
2:167133602 SCN9A C>T	2	167133602	167133602	C	T	SCN9A	c.2732G>A	NM_002977.3	NP_002968.1:p.(Arg911His)	NC_000002.11:g.167133602C>T	VUS	1 lab	9d4b7e14f9
3:138664910 FOXL2 G>A	3	138664910	138664910	G	A	FOXL2	c.655C>T	NM_023067.4	NP_075555.1:p.(Gln219Ter)	NC_000003.11:g.138664910G>A	(Likely) pathogenic	1 lab	9d4be0b799
7:6013084 PMS2 AT>A	7	6013084	6013085	AT	A	PMS2	c.2534del	NM_000535.7	NP_000526.2:p.(His845LeufsTer6)	NC_000007.13:g.6013085del	(Likely) pathogenic	1 lab	9d4cda1082
4:77660299 SHROOM3 T>G	4	77660299	77660299	T	G	SHROOM3	c.973T>G	NM_020859.3	NP_065910.3:p.(Ser325Ala)	NC_000004.11:g.77660299T>G	(Likely) benign	1 lab	9d4eb4e98b
7:33169258 BBS9 C>G	7	33169258	33169258	C	G	BBS9	c.-407C>G	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33169258C>G	(Likely) benign	1 lab	9d50d212b4
7:130041732 CEP41 A>G	7	130041732	130041732	A	G	CEP41	c.632T>C	NM_018718.3	NP_061188.1:p.(Ile211Thr)	NC_000007.13:g.130041732A>G	VUS	1 lab	09ab604ca6
16:1634361 IFT140 C>T	16	1634361	1634361	C	T	IFT140	c.1216G>A	NM_014714.3	NP_055529.2:p.(Glu406Lys)	NC_000016.9:g.1634361C>T	VUS	1 lab	9d54e04723
7:73474268 ELN C>T	7	73474268	73474268	C	T	ELN	c.1467C>T	NM_000501.3	NP_000492.2:p.(Val489=)	NC_000007.13:g.73474268C>T	(Likely) benign	1 lab	9d569c4409
2:47657715 MSH2 A>T	2	47657715	47657715	A	T	MSH2	c.1276+635A>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47657715A>T	(Likely) benign	1 lab	9d5aa7c9d2
4:187541475 FAT1 C>T	4	187541475	187541475	C	T	FAT1	c.6265G>A	NM_005245.4	NP_005236.2:p.(Val2089Ile)	NC_000004.11:g.187541475C>T	(Likely) benign	1 lab	0f1309e87f
5:149274757 PDE6A A>G	5	149274757	149274757	A	G	PDE6A	c.1717T>C	NM_000440.3	NP_000431.2:p.(Ser573Pro)	NC_000005.9:g.149274757A>G	(Likely) pathogenic	1 lab	9d5c48b63f
19:41062060 SPTBN4 C>T	19	41062060	41062060	C	T	SPTBN4	c.5155C>T	NM_020971.2	NP_066022.2:p.(Arg1719Cys)	NC_000019.9:g.41062060C>T	(Likely) pathogenic	1 lab	9d5d04ff70
4:1932439 NSD2 A>T	4	1932439	1932439	A	T	NSD2	c.1497A>T	NM_133330.3	NP_579877.1:p.(Arg499Ser)	NC_000004.11:g.1932439A>T	VUS	1 lab	09abd0b0f1
18:29175122 TTR T>G	18	29175122	29175122	T	G	TTR	c.240T>G	NM_000371.3	NP_000362.1:p.(Thr80=)	NC_000018.9:g.29175122T>G	(Likely) benign	1 lab	9d66028c5e
2:166894440 SCN1A C>T	2	166894440	166894440	C	T	SCN1A	c.2792G>A	NM_001165963.1	NP_001159435.1:p.(Arg931His)	NC_000002.11:g.166894440C>T	(Likely) pathogenic	1 lab	9d661c5916
13:32945069 BRCA2 G>T	13	32945069	32945069	G	T	BRCA2	c.8488-24G>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32945069G>T	(Likely) benign	1 lab	344c5eded4
4:186429585 PDLIM3 T>G	4	186429585	186429585	T	G	PDLIM3	c.530A>C	NM_014476.5	NP_055291.2:p.(Glu177Ala)	NC_000004.11:g.186429585T>G	VUS	1 lab	9d6efca388
17:41199658 BRCA1 A>G	17	41199658	41199658	A	G	BRCA1	c.5467+2T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41199658A>G	(Likely) pathogenic	1 lab	9d6f1aa7a4
22:41546041 EP300 C>A	22	41546041	41546041	C	A	EP300	c.2656C>A	NM_001429.3	NP_001420.2:p.(Pro886Thr)	NC_000022.10:g.41546041C>A	VUS	1 lab	9d7157181d
17:8013823 ALOXE3 G>T	17	8013823	8013823	G	T	ALOXE3	c.981C>A	NM_021628.3	NP_067641.2:p.(Asp327Glu)	NC_000017.10:g.8013823G>T	(Likely) pathogenic	1 lab	9d74ffbfdb
13:113773206 F7 G>A	13	113773206	113773206	G	A	F7	c.1285G>A	NM_000131.4	NP_000122.1:p.(Ala429Thr)	NC_000013.10:g.113773206G>A	(Likely) pathogenic	1 lab	9d77738b0e
11:1466614 MISSING C>G	11	1466614	1466614	C	G	MISSING				NC_000011.9:g.1466614C>G	VUS	1 lab	9d7a10d9f1
16:23200691 SCNN1G G>A	16	23200691	23200691	G	A	SCNN1G	c.318-1G>A	NM_001039.3	NP_001030.2:p.?	NC_000016.9:g.23200691G>A	(Likely) pathogenic	1 lab	9d7d483c1a
X:80001199 BRWD3 C>T	X	80001199	80001199	C	T	BRWD3	c.460G>A	NM_153252.5	NP_694984.5:p.(Gly154Ser)	NC_000023.10:g.80001199C>T	VUS	1 lab	09b34299e6
15:91337588 BLM GT>G	15	91337588	91337589	GT	G	BLM	c.3210+2del	NM_000057.3	NP_000048.1:p.?	NC_000015.9:g.91337589del	(Likely) pathogenic	1 lab	9dbd77d48e
1:26131632 SELENON G>A	1	26131632	26131632	G	A	SELENON	c.404-1G>A	NM_020451.2	NP_065184.2:p.?	NC_000001.10:g.26131632G>A	(Likely) pathogenic	1 lab	9d86311e5a
X:76829788 ATRX G>T	X	76829788	76829788	G	T	ATRX	c.6253C>A	NM_000489.6	NP_000480.3:p.(Arg2085Ser)	NC_000023.10:g.76829788G>T	(Likely) pathogenic	1 lab	9d86ae7e4c
8:87660117 CNGB3 T>G	8	87660117	87660117	T	G	CNGB3				NC_000008.10:g.87660117T>G	(Likely) pathogenic	1 lab	9d8812aea9
1:155870222 RIT1 C>T	1	155870222	155870222	C	T	RIT1				NC_000001.10:g.155870222C>T	VUS	1 lab	9d8bda9c63
17:62488885 POLG2 C>T	17	62488885	62488885	C	T	POLG2	c.694G>A	NM_007215.3	NP_009146.2:p.(Gly232Ser)	NC_000017.10:g.62488885C>T	(Likely) benign	1 lab	9d8c5dd195
19:11537020 ODAD3 C>A	19	11537020	11537020	C	A	ODAD3	c.907G>T	NM_145045.5	NP_659482.3:p.(Glu303Ter)	NC_000019.9:g.11537020C>A	(Likely) pathogenic	1 lab	9d90d64ee5
2:32368488 SPAST A>T	2	32368488	32368488	A	T	SPAST	c.1616+4A>T	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32368488A>T	(Likely) pathogenic	1 lab	9d910a3c45
4:84200262 COQ2 A>G	4	84200262	84200262	A	G	COQ2	c.409T>C	NM_015697.9	NP_056512.5:p.(Trp137Arg)	NC_000004.11:g.84200262A>G	VUS	1 lab	09b5ff6c6c
X:54476192 FGD1 G>T	X	54476192	54476192	G	T	FGD1	c.2048C>A	NM_004463.2	NP_004454.2:p.(Ala683Asp)	NC_000023.10:g.54476192G>T	(Likely) pathogenic	1 lab	9d9595dd78
5:70895553 MCCC2 G>C	5	70895553	70895553	G	C	MCCC2	c.349G>C	NM_022132.5	NP_071415.1:p.(Gly117Arg)	NC_000005.9:g.70895553G>C	VUS	1 lab	9d96915077
3:130699514 ATP2C1 AG>A	3	130699514	130699515	AG	A	ATP2C1	c.1831del	NM_001378687.1	NP_001365616.1:p.(Val611TyrfsTer16)	NC_000003.11:g.130699515del	(Likely) pathogenic	1 lab	9d9772b54a
16:3778976 CREBBP C>T	16	3778976	3778976	C	T	CREBBP	c.6072G>A	NM_004380.3	NP_004371.2:p.(Ala2024=)	NC_000016.9:g.3778976C>T	(Likely) benign	1 lab	09bb370547
5:112177022 APC C>A	5	112177022	112177022	C	A	APC	c.5731C>A	NM_000038.5	NP_000029.2:p.(Gln1911Lys)	NC_000005.9:g.112177022C>A	(Likely) benign	1 lab	9d9a6c5561
6:65300844 EYS G>A	6	65300844	65300844	G	A	EYS	c.4916C>T	NM_001142800.2	NP_001136272.1:p.(Thr1639Ile)	NC_000006.11:g.65300844G>A	VUS	1 lab	9da1cbd311
5:156899456 NIPAL4 G>A	5	156899456	156899456	G	A	NIPAL4	c.889G>A	NM_001099287.1	NP_001092757.1:p.(Gly297Arg)	NC_000005.9:g.156899456G>A	(Likely) pathogenic	1 lab	9da4986ef1
14:88883069 SPATA7 C>T	14	88883069	88883069	C	T	SPATA7	c.253C>T	NM_018418.4	NP_060888.2:p.(Arg85Ter)	NC_000014.8:g.88883069C>T	(Likely) pathogenic	1 lab	9da8e6ee0e
12:48369801 COL2A1 G>A	12	48369801	48369801	G	A	COL2A1	c.3542C>T	NM_001844.5	NP_001835.3:p.(Pro1181Leu)	NC_000012.11:g.48369801G>A	VUS	1 lab	9daa8324f4
7:150878511 ASB10 C>G	7	150878511	150878511	C	G	ASB10	c.619G>C	NM_001142459.2	NP_001135931.2:p.(Val207Leu)	NC_000007.13:g.150878511C>G	(Likely) benign	1 lab	9dad80b4a6
9:3248049 RFX3 T>C	9	3248049	3248049	T	C	RFX3	c.1951A>G	NM_001282116.2	NP_001269045.1:p.(Ile651Val)	NC_000009.11:g.3248049T>C	VUS	1 lab	9daee44317
11:17655346 OTOG G>T	11	17655346	17655346	G	T	OTOG	c.7228G>T	NM_001277269.1	NP_001264198.1:p.(Glu2410Ter)	NC_000011.9:g.17655346G>T	(Likely) pathogenic	1 lab	9db2e0c11c
7:91631790 AKAP9 T>C	7	91631790	91631790	T	C	AKAP9	c.2559T>C	NM_005751.4	NP_005742.4:p.(Ala853=)	NC_000007.13:g.91631790T>C	(Likely) benign	1 lab	9db3eaf007
19:13410103 CACNA1A G>A	19	13410103	13410103	G	A	CACNA1A	c.2347C>T	NM_001127221.1	NP_001120693.1:p.(Arg783Ter)	NC_000019.9:g.13410103G>A	(Likely) pathogenic	1 lab	9db89f4a7c
3:38645529 SCN5A G>A	3	38645529	38645529	G	A	SCN5A	c.1564C>T	NM_198056.2	NP_932173.1:p.(Pro522Ser)	NC_000003.11:g.38645529G>A	(Likely) benign	1 lab	9dc00329df
17:76115301 TMC6 G>A	17	76115301	76115301	G	A	TMC6	c.1811+77C>T	NM_001127198.1	NP_001120670.1:p.?	NC_000017.10:g.76115301G>A	(Likely) benign	1 lab	9dc311e27d
1:94481904 ABCA4 C>T	1	94481904	94481904	C	T	ABCA4	c.5197-494G>A	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94481904C>T	(Likely) benign	1 lab	9dc5d7f463
2:200188594 SATB2 G>A	2	200188594	200188594	G	A	SATB2	c.1474C>T	NM_001172509.2	NP_001165980.1:p.(Gln492Ter)	NC_000002.11:g.200188594G>A	(Likely) pathogenic	1 lab	9dc6cefc7f
1:196620917 CFH C>T	1	196620917	196620917	C	T	CFH				NC_000001.10:g.196620917C>T	(Likely) pathogenic	1 lab	9dc6e4d00d
16:58571003 CNOT1 G>C	16	58571003	58571003	G	C	CNOT1	c.5536C>G	NM_016284.4	NP_057368.3:p.(Pro1846Ala)	NC_000016.9:g.58571003G>C	(Likely) pathogenic	1 lab	9dc8c56494
17:59924463 BRIP1 T>C	17	59924463	59924463	T	C	BRIP1	c.626A>G	NM_032043.2	NP_114432.2:p.(Lys209Arg)	NC_000017.10:g.59924463T>C	(Likely) benign	1 lab	9dc9c26c0d
1:228437729 OBSCN C>G	1	228437729	228437729	C	G	OBSCN	c.4373C>G	NM_001271223.2	NP_001258152.2:p.(Ala1458Gly)	NC_000001.10:g.228437729C>G	(Likely) benign	1 lab	9dcb932ef0
8:61693815 CHD7 AAAAG>A	8	61693815	61693822	AAAAG	A	CHD7	c.1926_1929del	NM_017780.3	NP_060250.2:p.(Lys643ArgfsTer67)	NC_000008.10:g.61693819_61693822del	(Likely) pathogenic	1 lab	9dcf0e4481
X:70347242 MED12 G>A	X	70347242	70347242	G	A	MED12				NC_000023.10:g.70347242G>A	(Likely) benign	1 lab	9dd10ff5c1
2:168107418 XIRP2 T>C	2	168107418	168107418	T	C	XIRP2	c.9516T>C	NM_152381.5	NP_689594.4:p.(Pro3172=)	NC_000002.11:g.168107418T>C	(Likely) benign	1 lab	9dd1f2e88f
1:103462631 COL11A1 C>A	1	103462631	103462631	C	A	COL11A1	c.2241+5G>T	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103462631C>A	(Likely) pathogenic	1 lab	9dd22c4903
X:152991250 BCAP31 C>T	X	152991250	152991250	C	T	BCAP31				NC_000023.10:g.152991250C>T	(Likely) pathogenic	1 lab	9dd9d2acac
15:69715488 KIF23 C>T	15	69715488	69715488	C	T	KIF23	c.564-10C>T	NM_138555.3	NP_612565.1:p.?	NC_000015.9:g.69715488C>T	(Likely) benign	1 lab	9ddb40cdad
5:180048181 FLT4 G>GC	5	180048181	180048182	G	GC	FLT4	c.2091dup	NM_182925.5	NP_891555.2:p.(Gln698AlafsTer74)	NC_000005.9:g.180048182dup	(Likely) pathogenic	1 lab	9ddd25bc2a
1:41285883 KCNQ4 G>C	1	41285883	41285883	G	C	KCNQ4	c.992G>C	NM_004700.3	NP_004691.2:p.(Arg331Pro)	NC_000001.10:g.41285883G>C	(Likely) benign	1 lab	9ddd7187cf
17:41197701 BRCA1 G>A	17	41197701	41197701	G	A	BRCA1	c.5586C>T	NM_007294.3	NP_009225.1:p.(His1862=)	NC_000017.10:g.41197701G>A	(Likely) benign	1 lab	9dddedd5d2
10:114925526 TCF7L2 C>T	10	114925526	114925526	C	T	TCF7L2	c.1586C>T	NM_030756.5	NP_110383.2:p.(Pro529Leu)	NC_000010.10:g.114925526C>T	VUS	1 lab	09c0595312
12:80943255 MISSING G>A	12	80943255	80943255	G	A	MISSING				NC_000012.11:g.80943255G>A	VUS	1 lab	9de57b8904
12:110012656 MVK C>T	12	110012656	110012656	C	T	MVK	c.29C>T	NM_000431.2	NP_000422.1:p.(Ala10Val)	NC_000012.11:g.110012656C>T	(Likely) pathogenic	1 lab	0f1b52c83a
15:72109978 NR2E3 G>A	15	72109978	72109978	G	A	NR2E3	c.1186G>A	NM_014249.2	NP_055064.1:p.(Gly396Arg)	NC_000015.9:g.72109978G>A	VUS	1 lab	9de9b19cb5
9:13206037 MPDZ G>A	9	13206037	13206037	G	A	MPDZ	c.1352C>T	NM_003829.4	NP_003820.2:p.(Thr451Ile)	NC_000009.11:g.13206037G>A	VUS	1 lab	9dea0cb7ca
22:36657778 APOL1 A>G	22	36657778	36657778	A	G	APOL1	c.362+10A>G	NM_145343.2	NP_663318.1:p.?	NC_000022.10:g.36657778A>G	(Likely) benign	1 lab	0f1eacb954
10:112404316 RBM20 C>T	10	112404316	112404316	C	T	RBM20	c.104C>T	NM_001134363.3	NP_001127835.2:p.(Pro35Leu)	NC_000010.10:g.112404316C>T	VUS	1 lab	9df1b4610a
7:100225720 TFR2 C>T	7	100225720	100225720	C	T	TFR2	c.1513G>A	NM_003227.3	NP_003218.2:p.(Val505Met)	NC_000007.13:g.100225720C>T	VUS	1 lab	9df24b177e
21:46326815 ITGB2 C>T	21	46326815	46326815	C	T	ITGB2	c.328+15G>A	NM_000211.4	NP_000202.3:p.?	NC_000021.8:g.46326815C>T	(Likely) benign	1 lab	9df306fe70
9:117241052 WHRN C>T	9	117241052	117241052	C	T	WHRN	c.619-1G>A	NM_015404.4	NP_056219.3:p.?	NC_000009.11:g.117241052C>T	(Likely) pathogenic	1 lab	9df4dfc33b
1:65830295 DNAJC6 TTG>T	1	65830295	65830298	TTG	T	DNAJC6	c.194-21_194-20del	NM_001256864.2	NP_001243793.1:p.?	NC_000001.10:g.65830297_65830298del	(Likely) benign	1 lab	0f1fdc6db0
5:147481003 SPINK5 A>T	5	147481003	147481003	A	T	SPINK5	c.1302+4A>T	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147481003A>T	(Likely) pathogenic	1 lab	9dfce084bf
7:143042983 CLCN1 A>G	7	143042983	143042983	A	G	CLCN1	c.2172+128A>G	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143042983A>G	(Likely) benign	1 lab	0f21a7648c
16:57685282 ADGRG1 C>T	16	57685282	57685282	C	T	ADGRG1				NC_000016.9:g.57685282C>T	(Likely) pathogenic	1 lab	9dfe0ac290
5:112116529 APC G>T	5	112116529	112116529	G	T	APC	c.574G>T	NM_000038.6	NP_000029.2:p.(Glu192Ter)	NC_000005.9:g.112116529G>T	(Likely) pathogenic	1 lab	9dfed0b42f
7:47840336 PKD1L1 G>A	7	47840336	47840336	G	A	PKD1L1	c.8104C>T	NM_138295.4	NP_612152.1:p.(Leu2702Phe)	NC_000007.13:g.47840336G>A	(Likely) benign	1 lab	9dfed85f24
17:1651977 SERPINF2 G>A	17	1651977	1651977	G	A	SERPINF2	c.801G>A	NM_000934.3	NP_000925.2:p.(Met267Ile)	NC_000017.10:g.1651977G>A	VUS	1 lab	9dff8eecf7
19:42753567 ERF G>A	19	42753567	42753567	G	A	ERF	c.697C>T	NM_006494.3	NP_006485.2:p.(Arg233Ter)	NC_000019.9:g.42753567G>A	(Likely) pathogenic	1 lab	9e002c9694
16:23614417 PALB2 T>G	16	23614417	23614417	T	G	PALB2				NC_000016.9:g.23614417T>G	(Likely) benign	1 lab	9e016369e4
2:47300958 TTC7A G>A	2	47300958	47300958	G	A	TTC7A	c.2473G>A	NM_020458.4	NP_065191.2:p.(Ala825Thr)	NC_000002.11:g.47300958G>A	(Likely) benign	1 lab	0f26786189
20:33570324 MYH7B T>C	20	33570324	33570324	T	C	MYH7B	c.716T>C	NM_020884.4	NP_065935.3:p.(Val239Ala)	NC_000020.10:g.33570324T>C	VUS	1 lab	9e03709099
11:66283056 BBS1 C>T	11	66283056	66283056	C	T	BBS1	c.478C>T	NM_024649.4	NP_078925.3:p.(Arg160Trp)	NC_000011.9:g.66283056C>T	VUS	1 lab	9e04e8cc3d
3:48612237 COL7A1 C>G	3	48612237	48612237	C	G	COL7A1	c.6341G>C	NM_000094.4	NP_000085.1:p.(Gly2114Ala)	NC_000003.11:g.48612237C>G	(Likely) pathogenic	1 lab	09c41d6a9a
7:66103900 KCTD7 G>A	7	66103900	66103900	G	A	KCTD7	c.551G>A	NM_153033.4	NP_694578.1:p.(Arg184His)	NC_000007.13:g.66103900G>A	(Likely) pathogenic	1 lab	9e0736c10b
1:98165091 DPYD T>C	1	98165091	98165091	T	C	DPYD	c.496A>G	NM_000110.4	NP_000101.2:p.(Met166Val)	NC_000001.10:g.98165091T>C	(Likely) benign	1 lab	09c561050c
X:41204440 DDX3X G>T	X	41204440	41204440	G	T	DDX3X	c.1033G>T	NM_001356.4	NP_001347.3:p.(Val345Leu)	NC_000023.10:g.41204440G>T	(Likely) pathogenic	1 lab	9e0bb32ee2
19:13184753 NFIX C>T	19	13184753	13184753	C	T	NFIX				NC_000019.9:g.13184753C>T	(Likely) benign	1 lab	9e0d092e3a
2:47639658 MSH2 G>T	2	47639658	47639658	G	T	MSH2	c.751G>T	NM_000251.2	NP_000242.1:p.(Glu251Ter)	NC_000002.11:g.47639658G>T	(Likely) pathogenic	1 lab	9e0e17ee1e
X:153216935 HCFC1 G>A	X	153216935	153216935	G	A	HCFC1	c.5383C>T	NM_005334.2	NP_005325.2:p.(Pro1795Ser)	NC_000023.10:g.153216935G>A	(Likely) benign	1 lab	9e0e71fe2a
11:77835138 ALG8 G>C	11	77835138	77835138	G	C	ALG8	c.297C>G	NM_024079.5	NP_076984.2:p.(Ser99Arg)	NC_000011.9:g.77835138G>C	VUS	1 lab	09c6ff290d
X:153223330 HCFC1 T>C	X	153223330	153223330	T	C	HCFC1	c.2036A>G	NM_005334.2	NP_005325.2:p.(Asn679Ser)	NC_000023.10:g.153223330T>C	VUS	1 lab	9e0fd27ab6
X:32715989 DMD G>C	X	32715989	32715989	G	C	DMD	c.958C>G	NM_004006.3	NP_003997.2:p.(Gln320Glu)	NC_000023.10:g.32715989G>C	(Likely) benign	1 lab	9e120506e0
16:23197562 SCNN1G A>G	16	23197562	23197562	A	G	SCNN1G	c.-31A>G	NM_001039.3	NP_001030.2:p.?	NC_000016.9:g.23197562A>G	(Likely) benign	1 lab	9e1351eca2
19:33321447 SLC7A9 A>G	19	33321447	33321447	A	G	SLC7A9	c.*79T>C	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33321447A>G	(Likely) benign	1 lab	9e1405ca65
5:112176105 APC T>C	5	112176105	112176105	T	C	APC	c.4814T>C	NM_000038.5	NP_000029.2:p.(Val1605Ala)	NC_000005.9:g.112176105T>C	VUS	1 lab	9e1575d75f
2:207006676 NDUFS1 T>C	2	207006676	207006676	T	C	NDUFS1	c.1251A>G	NM_005006.7	NP_004997.4:p.(Arg417=)	NC_000002.11:g.207006676T>C	(Likely) benign	1 lab	09c7ebff1d
11:823603 PNPLA2 C>T	11	823603	823603	C	T	PNPLA2	c.757+16C>T	NM_020376.3	NP_065109.1:p.?	NC_000011.9:g.823603C>T	(Likely) benign	1 lab	9e1863a6d6
17:7579317 TP53 A>C	17	7579317	7579317	A	C	TP53	c.370T>G	NM_000546.6	NP_000537.3:p.(Cys124Gly)	NC_000017.10:g.7579317A>C	VUS	1 lab	9e1b0f7b8f
1:53668063 CPT2 C>T	1	53668063	53668063	C	T	CPT2	c.302C>T	NM_000098.3	NP_000089.1:p.(Ala101Val)	NC_000001.10:g.53668063C>T	(Likely) benign	1 lab	0f29c88563
3:176765159 TBL1XR1 G>A	3	176765159	176765159	G	A	TBL1XR1	c.793C>T	NM_024665.4	NP_078941.2:p.(His265Tyr)	NC_000003.11:g.176765159G>A	(Likely) pathogenic	1 lab	9e20c086c4
X:152957429 SLC6A8 G>A	X	152957429	152957429	G	A	SLC6A8				NC_000023.10:g.152957429G>A	(Likely) pathogenic	1 lab	9e2264471f
12:6127849 VWF C>T	12	6127849	6127849	C	T	VWF	c.4735G>A	NM_000552.3	NP_000543.2:p.(Gly1579Arg)	NC_000012.11:g.6127849C>T	(Likely) pathogenic	1 lab	9e23cab004
2:167288989 SCN7A T>C	2	167288989	167288989	T	C	SCN7A	c.2431A>G	NM_002976.4	NP_002967.2:p.(Ser811Gly)	NC_000002.11:g.167288989T>C	(Likely) benign	1 lab	9e27ecae31
6:43555183 POLH G>T	6	43555183	43555183	G	T	POLH	c.447G>T	NM_006502.2	NP_006493.1:p.(Gly149=)	NC_000006.11:g.43555183G>T	(Likely) benign	1 lab	a38448b104
22:38379790 SOX10 A>G	22	38379790	38379790	A	G	SOX10	c.2T>C	NM_006941.3	NP_008872.1:p.(Met1?)	NC_000022.10:g.38379790A>G	(Likely) pathogenic	1 lab	9e2a3983ad
5:92929372 NR2F1 C>T	5	92929372	92929372	C	T	NR2F1	c.1096C>T	NM_005654.6	NP_005645.1:p.(Arg366Cys)	NC_000005.9:g.92929372C>T	(Likely) pathogenic	1 lab	9e2c9f7c5d
12:112940054 PTPN11 G>C	12	112940054	112940054	G	C	PTPN11	c.1706G>C	NM_002834.3	NP_002825.3:p.(Cys569Ser)	NC_000012.11:g.112940054G>C	VUS	1 lab	9e2db56780
11:125864936 CDON TG>T	11	125864936	125864937	TG	T	CDON	c.2373del	NM_001243597.2	NP_001230526.1:p.(Tyr791Ter)	NC_000011.9:g.125864937del	(Likely) pathogenic	1 lab	9e2ed805c1
11:108150360 ATM C>T	11	108150360	108150360	C	T	ATM	c.3402+25C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150360C>T	(Likely) benign	1 lab	9e2f178589
18:43481075 EPG5 G>A	18	43481075	43481075	G	A	EPG5	c.4532C>T	NM_020964.2	NP_066015.2:p.(Ala1511Val)	NC_000018.9:g.43481075G>A	(Likely) benign	1 lab	9e3039129f
9:98231241 PTCH1 G>A	9	98231241	98231241	G	A	PTCH1	c.2042C>T	NM_000264.5	NP_000255.2:p.(Pro681Leu)	NC_000009.11:g.98231241G>A	(Likely) pathogenic	1 lab	9e31467d82
8:77618692 ZFHX4 A>G	8	77618692	77618692	A	G	ZFHX4	c.2369A>G	NM_024721.5	NP_078997.4:p.(Lys790Arg)	NC_000008.10:g.77618692A>G	VUS	1 lab	09ce967820
1:241682890 FH C>A	1	241682890	241682890	C	A	FH	c.132+1G>T	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241682890C>A	(Likely) pathogenic	1 lab	9e3adba5a4
11:47364393 MYBPC3 G>C	11	47364393	47364393	G	C	MYBPC3	c.1445C>G	NM_000256.3	NP_000247.2:p.(Ala482Gly)	NC_000011.9:g.47364393G>C	(Likely) pathogenic	1 lab	9e4304a6c4
11:17629962 OTOG T>G	11	17629962	17629962	T	G	OTOG				NC_000011.9:g.17629962T>G	(Likely) pathogenic	1 lab	9e430d594d
8:141570519 AGO2 A>T	8	141570519	141570519	A	T	AGO2	c.609T>A	NM_012154.3	NP_036286.2:p.(His203Gln)	NC_000008.10:g.141570519A>T	VUS	1 lab	9e4476f2df
X:99663042 PCDH19 G>A	X	99663042	99663042	G	A	PCDH19	c.554C>T	NM_001184880.1	NP_001171809.1:p.(Ser185Phe)	NC_000023.10:g.99663042G>A	VUS	1 lab	9e4635e85c
21:47986565 DIP2A G>A	21	47986565	47986565	G	A	DIP2A	c.4432G>A	NM_015151.4	NP_055966.2:p.(Val1478Ile)	NC_000021.8:g.47986565G>A	VUS	1 lab	9e499c5989
4:79365479 FRAS1 C>T	4	79365479	79365479	C	T	FRAS1	c.5666-1197C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79365479C>T	(Likely) benign	1 lab	0f481efe4f
8:65509252 CYP7B1 C>A	8	65509252	65509252	C	A	CYP7B1	c.1468G>T	NM_004820.5	NP_004811.1:p.(Gly490Cys)	NC_000008.10:g.65509252C>A	VUS	1 lab	09d2496f85
17:62026880 SCN4A C>T	17	62026880	62026880	C	T	SCN4A	c.2862G>A	NM_000334.4	NP_000325.4:p.(Pro954=)	NC_000017.10:g.62026880C>T	(Likely) benign	1 lab	9e4f11617f
1:29442034 EPB41 C>T	1	29442034	29442034	C	T	EPB41	c.1669-177C>T	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29442034C>T	(Likely) benign	1 lab	a4398781c0
3:130682885 ATP2C1 A>T	3	130682885	130682885	A	T	ATP2C1	c.970A>T	NM_001378687.1	NP_001365616.1:p.(Arg324Ter)	NC_000003.11:g.130682885A>T	(Likely) pathogenic	1 lab	9e51cd8b48
13:32914583 BRCA2 AC>A	13	32914583	32914584	AC	A	BRCA2	c.6092del	NM_000059.4	NP_000050.3:p.(Thr2031MetfsTer9)	NC_000013.10:g.32914584del	(Likely) pathogenic	1 lab	09d541f590
1:74937540 TNNI3K T>C	1	74937540	74937540	T	C	TNNI3K	c.2121+8306T>C	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74937540T>C	(Likely) benign	1 lab	9e55fc5c59
6:75902026 COL12A1 G>A	6	75902026	75902026	G	A	COL12A1	c.236C>T	NM_004370.5	NP_004361.3:p.(Thr79Ile)	NC_000006.11:g.75902026G>A	VUS	1 lab	9e580ef1d3
17:19561059 ALDH3A2 C>T	17	19561059	19561059	C	T	ALDH3A2				NC_000017.10:g.19561059C>T	(Likely) pathogenic	1 lab	9f81846730
2:166911202 SCN1A A>G	2	166911202	166911202	A	G	SCN1A	c.548T>C	NM_001165963.4	NP_001159435.1:p.(Phe183Ser)	NC_000002.11:g.166911202A>G	(Likely) pathogenic	1 lab	09d84d0542
5:14378160 TRIO T>C	5	14378160	14378160	T	C	TRIO	c.3371T>C	NM_007118.2	NP_009049.2:p.(Leu1124Ser)	NC_000005.9:g.14378160T>C	VUS	1 lab	9e5dc4ad7d
14:21899093 CHD8 C>T	14	21899093	21899093	C	T	CHD8	c.710G>A	NM_001170629.2	NP_001164100.1:p.(Arg237His)	NC_000014.8:g.21899093C>T	VUS	1 lab	9e61afb65e
21:35821419 KCNE1 T>C	21	35821419	35821419	T	C	KCNE1	c.*124A>G	NM_000219.5	NP_000210.2:p.?	NC_000021.8:g.35821419T>C	(Likely) benign	1 lab	a78ddb3f1e
17:3561298 CTNS G>T	17	3561298	3561298	G	T	CTNS	c.682-1G>T	NM_001031681.2	NP_001026851.2:p.?	NC_000017.10:g.3561298G>T	(Likely) pathogenic	1 lab	9e66b11ed6
10:73406280 CDH23 A>G	10	73406280	73406280	A	G	CDH23	c.1355A>G	NM_022124.5	NP_071407.4:p.(Asn452Ser)	NC_000010.10:g.73406280A>G	VUS	1 lab	9e67a7f588
19:40953802 BLVRB G>C	19	40953802	40953802	G	C	BLVRB	c.615C>G	NM_000713.2	NP_000704.1:p.(Tyr205Ter)	NC_000019.9:g.40953802G>C	VUS	1 lab	9e6adae930
7:103216023 RELN T>C	7	103216023	103216023	T	C	RELN	c.4275A>G	NM_005045.4	NP_005036.2:p.(Gly1425=)	NC_000007.13:g.103216023T>C	(Likely) benign	1 lab	0f2c25a45e
6:86324926 SYNCRIP A>C	6	86324926	86324926	A	C	SYNCRIP	c.1420T>G	NM_006372.5	NP_006363.4:p.(Tyr474Asp)	NC_000006.11:g.86324926A>C	VUS	1 lab	9e6cf14e1c
10:43613840 RET G>C	10	43613840	43613840	G	C	RET	c.2304G>C	NM_020975.4	NP_066124.1:p.(Glu768Asp)	NC_000010.10:g.43613840G>C	(Likely) pathogenic	1 lab	0f2c9d74f5
9:139401169 NOTCH1 G>A	9	139401169	139401169	G	A	NOTCH1	c.3900C>T	NM_017617.4	NP_060087.3:p.(Thr1300=)	NC_000009.11:g.139401169G>A	(Likely) benign	1 lab	9e6f25b8d2
18:3168902 MYOM1 C>G	18	3168902	3168902	C	G	MYOM1	c.1252G>C	NM_003803.4	NP_003794.3:p.(Glu418Gln)	NC_000018.9:g.3168902C>G	VUS	1 lab	0dbef4b42d
9:13219659 MPDZ C>T	9	13219659	13219659	C	T	MPDZ	c.985G>A	NM_003829.4	NP_003820.2:p.(Val329Ile)	NC_000009.11:g.13219659C>T	VUS	1 lab	9e729264a3
X:133547953 PHF6 A>G	X	133547953	133547953	A	G	PHF6	c.686A>G	NM_001015877.1	NP_001015877.1:p.(His229Arg)	NC_000023.10:g.133547953A>G	(Likely) pathogenic	1 lab	9e72f58168
17:76118834 TMC6 G>C	17	76118834	76118834	G	C	TMC6	c.1083-4C>G	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76118834G>C	(Likely) benign	1 lab	09dd44c71e
8:61654355 CHD7 C>T	8	61654355	61654355	C	T	CHD7	c.364C>T	NM_017780.3	NP_060250.2:p.(Gln122Ter)	NC_000008.10:g.61654355C>T	(Likely) pathogenic	1 lab	9e7d2e9f0f
19:38990284 RYR1 TGGA>T	19	38990284	38990291	TGGA	T	RYR1	c.7042_7044del	NM_000540.2	NP_000531.2:p.(Glu2348del)	NC_000019.9:g.38990289_38990291del	(Likely) pathogenic	1 lab	9e7e088faf
X:135081029 SLC9A6 G>T	X	135081029	135081029	G	T	SLC9A6	c.599G>T	NM_006359.2	NP_006350.1:p.(Gly200Val)	NC_000023.10:g.135081029G>T	VUS	1 lab	9e7f0c21a4
16:81953154 PLCG2 C>A	16	81953154	81953154	C	A	PLCG2	c.2120C>A	NM_002661.5	NP_002652.2:p.(Ser707Tyr)	NC_000016.9:g.81953154C>A	(Likely) pathogenic	1 lab	09dd5029c4
X:54491964 FGD1 C>T	X	54491964	54491964	C	T	FGD1	c.1556G>A	NM_004463.2	NP_004454.2:p.(Arg519His)	NC_000023.10:g.54491964C>T	(Likely) pathogenic	1 lab	9e827a6695
20:42788485 JPH2 G>A	20	42788485	42788485	G	A	JPH2	c.942C>T	NM_020433.4	NP_065166.2:p.(Tyr314=)	NC_000020.10:g.42788485G>A	(Likely) benign	1 lab	9e83f42677
1:115252305 NRAS A>G	1	115252305	115252305	A	G	NRAS				NC_000001.10:g.115252305A>G	VUS	1 lab	9e84647736
9:967980 DMRT1 C>G	9	967980	967980	C	G	DMRT1	c.968-5C>G	NM_021951.2	NP_068770.2:p.?	NC_000009.11:g.967980C>G	(Likely) benign	1 lab	9e857215bf
9:138678202 KCNT1 G>A	9	138678202	138678202	G	A	KCNT1	c.3337G>A	NM_020822.3	NP_065873.2:p.(Ala1113Thr)	NC_000009.11:g.138678202G>A	VUS	1 lab	9e86bebcbf
1:112524469 KCND3 C>A	1	112524469	112524469	C	A	KCND3	c.880G>T	NM_004980.4	NP_004971.2:p.(Val294Phe)	NC_000001.10:g.112524469C>A	(Likely) pathogenic	1 lab	9e8937f3a4
17:48268781 COL1A1 C>T	17	48268781	48268781	C	T	COL1A1	c.2198G>A	NM_000088.3	NP_000079.2:p.(Arg733His)	NC_000017.10:g.48268781C>T	(Likely) benign	1 lab	9e89d6a11c
9:130435462 STXBP1 C>A	9	130435462	130435462	C	A	STXBP1	c.1032C>A	NM_003165.3	NP_003156.1:p.(Tyr344Ter)	NC_000009.11:g.130435462C>A	(Likely) pathogenic	1 lab	9e8c6fe90c
3:38743402 SCN10A C>T	3	38743402	38743402	C	T	SCN10A	c.4585G>A	NM_006514.4	NP_006505.4:p.(Ala1529Thr)	NC_000003.11:g.38743402C>T	VUS	1 lab	9e8d5a03c4
12:2695083 CACNA1C C>T	12	2695083	2695083	C	T	CACNA1C	c.2530+13C>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2695083C>T	(Likely) benign	1 lab	0f302c6c2d
11:823556 PNPLA2 C>T	11	823556	823556	C	T	PNPLA2	c.726C>T	NM_020376.3	NP_065109.1:p.(Tyr242=)	NC_000011.9:g.823556C>T	(Likely) benign	1 lab	9e92b5618c
2:179616273 TTN T>C	2	179616273	179616273	T	C	TTN	c.11311+1578A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616273T>C	(Likely) benign	1 lab	9e96e289da
15:23002903 CYFIP1 C>T	15	23002903	23002903	C	T	CYFIP1				NC_000015.9:g.23002903C>T	VUS	1 lab	9e97c0f344
19:41848114 TGFB1 A>G	19	41848114	41848114	A	G	TGFB1	c.673T>C	NM_000660.5	NP_000651.3:p.(Cys225Arg)	NC_000019.9:g.41848114A>G	(Likely) pathogenic	1 lab	9e99c34685
2:1914105 MYT1L G>C	2	1914105	1914105	G	C	MYT1L	c.1724C>G	NM_001303052.2	NP_001289981.1:p.(Pro575Arg)	NC_000002.11:g.1914105G>C	VUS	1 lab	9e9b50385e
2:167301491 SCN7A C>T	2	167301491	167301491	C	T	SCN7A	c.1407G>A	NM_002976.3	NP_002967.2:p.(Lys469=)	NC_000002.11:g.167301491C>T	(Likely) benign	1 lab	9e9c422148
22:38369619 SOX10 C>A	22	38369619	38369619	C	A	SOX10	c.1284G>T	NM_006941.4	NP_008872.1:p.(Met428Ile)	NC_000022.10:g.38369619C>A	VUS	1 lab	9ea319cc92
22:31334102 MORC2 G>T	22	31334102	31334102	G	T	MORC2	c.1164C>A	NM_001303256.2	NP_001290185.1:p.(Ser388Arg)	NC_000022.10:g.31334102G>T	(Likely) pathogenic	1 lab	9ea74fd8fd
18:44098101 LOXHD1 T>C	18	44098101	44098101	T	C	LOXHD1	c.5390A>G	NM_001384474.1	NP_001371403.1:p.(Lys1797Arg)	NC_000018.9:g.44098101T>C	VUS	1 lab	9ea79281d5
15:65917097 SLC24A1 GC>G	15	65917097	65917098	GC	G	SLC24A1				NC_000015.9:g.65917098del	(Likely) pathogenic	1 lab	9eaba7d3c9
4:159606372 ETFDH G>A	4	159606372	159606372	G	A	ETFDH				NC_000004.11:g.159606372G>A	(Likely) pathogenic	1 lab	9eac8ed653
12:49424534 KMT2D G>A	12	49424534	49424534	G	A	KMT2D	c.13689C>T	NM_003482.3	NP_003473.3:p.(Pro4563=)	NC_000012.11:g.49424534G>A	(Likely) benign	1 lab	9eb79c25e4
13:32889701 BRCA2 C>T	13	32889701	32889701	C	T	BRCA2	c.-143C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889701C>T	(Likely) benign	1 lab	9eb7f4f246
4:149002667 NR3C2 G>C	4	149002667	149002667	G	C	NR3C2	c.2800-17C>G	NM_000901.4	NP_000892.2:p.?	NC_000004.11:g.149002667G>C	(Likely) benign	1 lab	9ebd8d9fa0
16:58581475 CNOT1 G>C	16	58581475	58581475	G	C	CNOT1	c.3634C>G	NM_016284.4	NP_057368.3:p.(His1212Asp)	NC_000016.9:g.58581475G>C	VUS	1 lab	9ec5397b5f
17:29548948 NF1 G>C	17	29548948	29548948	G	C	NF1	c.1721+1G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29548948G>C	(Likely) pathogenic	1 lab	9ec5a98b1f
11:19209753 CSRP3 T>G	11	19209753	19209753	T	G	CSRP3	c.211A>C	NM_003476.4	NP_003467.1:p.(Ile71Leu)	NC_000011.9:g.19209753T>G	(Likely) benign	1 lab	9ec60e56b2
2:26702105 OTOF C>T	2	26702105	26702105	C	T	OTOF	c.2214+27G>A	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26702105C>T	VUS	1 lab	9ecde081a8
1:152281691 FLG G>A	1	152281691	152281691	G	A	FLG	c.5671C>T	NM_002016.1	NP_002007.1:p.(Arg1891Trp)	NC_000001.10:g.152281691G>A	(Likely) benign	1 lab	9ece302ef4
2:48915171 LHCGR C>CA	2	48915171	48915178	C	CA	LHCGR	c.1764dup	NM_000233.3	NP_000224.2:p.(Ala589CysfsTer17)	NC_000002.11:g.48915178dup	(Likely) pathogenic	1 lab	9ece76ca07
2:179634421 TTN T>G	2	179634421	179634421	T	G	TTN	c.8887A>C	NM_001267550.2	NP_001254479.2:p.(Thr2963Pro)	NC_000002.11:g.179634421T>G	(Likely) benign	1 lab	9ecef088e1
3:38603979 SCN5A C>A	3	38603979	38603979	C	A	SCN5A	c.3890G>T	NM_198056.2	NP_932173.1:p.(Gly1297Val)	NC_000003.11:g.38603979C>A	VUS	1 lab	9ed2813216
10:8115823 GATA3 C>T	10	8115823	8115823	C	T	GATA3	c.1172C>T	NM_001002295.2	NP_001002295.1:p.(Ser391Leu)	NC_000010.10:g.8115823C>T	VUS	1 lab	9ed2a28ee9
1:94549781 ABCA4 G>A	1	94549781	94549781	G	A	ABCA4				NC_000001.10:g.94549781G>A	(Likely) pathogenic	1 lab	9ed2d584bd
1:40770192 COL9A2 C>T	1	40770192	40770192	C	T	COL9A2	c.1171G>A	NM_001852.3	NP_001843.1:p.(Gly391Ser)	NC_000001.10:g.40770192C>T	VUS	1 lab	9ed3e4941c
15:42652312 CAPN3 G>A	15	42652312	42652312	G	A	CAPN3	c.309G>A	NM_000070.2	NP_000061.1:p.(Pro103=)	NC_000015.9:g.42652312G>A	VUS	1 lab	9ed4b9d4b2
17:62018877 SCN4A C>T	17	62018877	62018877	C	T	SCN4A	c.4765G>A	NM_000334.4	NP_000325.4:p.(Val1589Met)	NC_000017.10:g.62018877C>T	(Likely) pathogenic	1 lab	9ed55f008b
21:47408999 COL6A1 G>A	21	47408999	47408999	G	A	COL6A1	c.806G>A	NM_001848.2	NP_001839.2:p.(Gly269Glu)	NC_000021.8:g.47408999G>A	(Likely) pathogenic	1 lab	9ed68ef586
2:71190325 ATP6V1B1 C>T	2	71190325	71190325	C	T	ATP6V1B1	c.943C>T	NM_001692.3	NP_001683.2:p.(Arg315Ter)	NC_000002.11:g.71190325C>T	(Likely) pathogenic	1 lab	9edc53c2fd
1:16270474 ZBTB17 T>C	1	16270474	16270474	T	C	ZBTB17	c.1126-84A>G	NM_001242884.1	NP_001229813.1:p.?	NC_000001.10:g.16270474T>C	(Likely) benign	1 lab	9edf3d5af3
9:138657586 KCNT1 C>G	9	138657586	138657586	C	G	KCNT1	c.1317C>G	NM_020822.2	NP_065873.2:p.(Asp439Glu)	NC_000009.11:g.138657586C>G	(Likely) benign	1 lab	9edf5c6e57
11:67287311 CABP2 A>G	11	67287311	67287311	A	G	CABP2	c.590T>C	NM_016366.2	NP_057450.2:p.(Ile197Thr)	NC_000011.9:g.67287311A>G	(Likely) pathogenic	1 lab	9ee02aaa72
9:139840147 C8G G>A	9	139840147	139840147	G	A	C8G	c.200G>A	NM_000606.3	NP_000597.2:p.(Gly67Asp)	NC_000009.11:g.139840147G>A	VUS	1 lab	09e95237f7
1:228559457 OBSCN C>G	1	228559457	228559457	C	G	OBSCN	c.20978C>G	NM_001098623.2	NP_001092093.2:p.(Ala6993Gly)	NC_000001.10:g.228559457C>G	(Likely) benign	1 lab	9ee95c8473
7:151478321 PRKAG2 C>T	7	151478321	151478321	C	T	PRKAG2	c.383G>A	NM_016203.4	NP_057287.2:p.(Arg128His)	NC_000007.13:g.151478321C>T	VUS	1 lab	9eea606e3b
3:38927586 SCN11A G>A	3	38927586	38927586	G	A	SCN11A	c.2949+30C>T	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38927586G>A	(Likely) benign	1 lab	9eea9da444
4:39505523 UGDH T>C	4	39505523	39505523	T	C	UGDH	c.1346A>G	NM_003359.3	NP_003350.1:p.(His449Arg)	NC_000004.11:g.39505523T>C	VUS	1 lab	9eeca003b8
11:47357449 MYBPC3 C>T	11	47357449	47357449	C	T	MYBPC3	c.2716G>A	NM_000256.3	NP_000247.2:p.(Val906Met)	NC_000011.9:g.47357449C>T	VUS	1 lab	0f339e0eaf
13:32972339 BRCA2 T>C	13	32972339	32972339	T	C	BRCA2	c.9689T>C	NM_000059.3	NP_000050.2:p.(Leu3230Ser)	NC_000013.10:g.32972339T>C	(Likely) benign	1 lab	9ef15ac07a
6:32006970 CYP21A2 G>A	6	32006970	32006970	G	A	CYP21A2	c.392G>A	NM_000500.9	NP_000491.4:p.(Gly131Asp)	NC_000006.11:g.32006970G>A	(Likely) pathogenic	1 lab	9ef1a5b6c2
13:78475226 EDNRB G>A	13	78475226	78475226	G	A	EDNRB	c.1188C>T	NM_001201397.1	NP_001188326.1:p.(Gly396=)	NC_000013.10:g.78475226G>A	VUS	1 lab	9ef1c2c9e5
17:65862670 BPTF A>C	17	65862670	65862670	A	C	BPTF	c.1527A>C	NM_182641.4	NP_872579.2:p.(Lys509Asn)	NC_000017.10:g.65862670A>C	(Likely) pathogenic	1 lab	9ef417fe37
1:3102933 PRDM16 T>G	1	3102933	3102933	T	G	PRDM16	c.282T>G	NM_022114.3	NP_071397.3:p.(Ala94=)	NC_000001.10:g.3102933T>G	(Likely) benign	1 lab	9ef514c0eb
X:18690186 RS1 C>A	X	18690186	18690186	C	A	RS1	c.3G>T	NM_000330.3	NP_000321.1:p.(Met1?)	NC_000023.10:g.18690186C>A	(Likely) pathogenic	1 lab	9ef58db63c
2:160206369 BAZ2B AGT>A	2	160206369	160206373	AGT	A	BAZ2B	c.4711_4712del	NM_013450.4	NP_038478.2:p.(Thr1571PhefsTer22)	NC_000002.11:g.160206372_160206373del	VUS	1 lab	9ef67b79cb
2:228145615 COL4A3 C>T	2	228145615	228145615	C	T	COL4A3	c.2381C>T	NM_000091.5	NP_000082.2:p.(Pro794Leu)	NC_000002.11:g.228145615C>T	VUS	1 lab	9ef70f7ea3
17:59885901 BRIP1 G>C	17	59885901	59885901	G	C	BRIP1	c.845C>G	NM_032043.3	NP_114432.2:p.(Thr282Ser)	NC_000017.10:g.59885901G>C	(Likely) benign	1 lab	9efa9ad150
2:48032864 MSH6 T>C	2	48032864	48032864	T	C	MSH6	c.3646+18T>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48032864T>C	(Likely) benign	1 lab	9efec79504
19:1399026 GAMT C>T	19	1399026	1399026	C	T	GAMT	c.460-1G>A	NM_000156.6	NP_000147.1:p.?	NC_000019.9:g.1399026C>T	(Likely) pathogenic	1 lab	9f00a586b3
2:39294845 SOS1 T>A	2	39294845	39294845	T	A	SOS1				NC_000002.11:g.39294845T>A	VUS	1 lab	9f085ccc89
4:1807863 FGFR3 A>T	4	1807863	1807863	A	T	FGFR3	c.1922A>T	NM_000142.5	NP_000133.1:p.(Asp641Val)	NC_000004.11:g.1807863A>T	VUS	1 lab	9f091bb0be
1:22156539 HSPG2 C>T	1	22156539	22156539	C	T	HSPG2	c.11717G>A	NM_005529.6	NP_005520.4:p.(Arg3906Gln)	NC_000001.10:g.22156539C>T	(Likely) benign	1 lab	0f3598ec91
13:23912124 SACS T>C	13	23912124	23912124	T	C	SACS	c.5891A>G	NM_014363.5	NP_055178.3:p.(Tyr1964Cys)	NC_000013.10:g.23912124T>C	VUS	1 lab	9f0e3c45b7
4:155491759 FGB G>A	4	155491759	155491759	G	A	FGB	c.1433G>A	NM_005141.4	NP_005132.2:p.(Arg478Lys)	NC_000004.11:g.155491759G>A	(Likely) benign	1 lab	9f0e7d25f7
17:18077175 MYO15A T>G	17	18077175	18077175	T	G	MYO15A	c.10431T>G	NM_016239.3	NP_057323.3:p.(Tyr3477Ter)	NC_000017.10:g.18077175T>G	(Likely) pathogenic	1 lab	9f13209da0
1:12059087 MFN2 C>A	1	12059087	12059087	C	A	MFN2	c.751C>A	NM_014874.3	NP_055689.1:p.(Pro251Thr)	NC_000001.10:g.12059087C>A	VUS	1 lab	9f182eac16
15:66995638 SMAD6 G>A	15	66995638	66995638	G	A	SMAD6	c.42G>A	NM_005585.5	NP_005576.3:p.(Trp14Ter)	NC_000015.9:g.66995638G>A	VUS	1 lab	9f1838e356
10:121411298 BAG3 C>G	10	121411298	121411298	C	G	BAG3	c.111C>G	NM_004281.3	NP_004272.2:p.(Pro37=)	NC_000010.10:g.121411298C>G	(Likely) benign	1 lab	9f1cb4a935
13:32910468 BRCA2 T>G	13	32910468	32910468	T	G	BRCA2	c.1976T>G	NM_000059.3	NP_000050.2:p.(Leu659Ter)	NC_000013.10:g.32910468T>G	(Likely) pathogenic	1 lab	9f233087b4
5:112175772 APC AAAGTACTC>A	5	112175772	112175780	AAAGTACTC	A	APC	c.4482_4489del	NM_000038.6	NP_000029.2:p.(Glu1494AspfsTer17)	NC_000005.9:g.112175773_112175780del	(Likely) pathogenic	1 lab	9f233f645e
4:77662818 SHROOM3 G>A	4	77662818	77662818	G	A	SHROOM3	c.3492G>A	NM_020859.3	NP_065910.3:p.(Gln1164=)	NC_000004.11:g.77662818G>A	(Likely) benign	1 lab	9f2458a9bb
16:15831308 MYH11 G>A	16	15831308	15831308	G	A	MYH11	c.3312C>T	NM_001040114.1	NP_001035203.1:p.(Ala1104=)	NC_000016.9:g.15831308G>A	(Likely) benign	1 lab	9f24a6161e
17:59878641 BRIP1 A>T	17	59878641	59878641	A	T	BRIP1	c.1113T>A	NM_032043.2	NP_114432.2:p.(Tyr371Ter)	NC_000017.10:g.59878641A>T	(Likely) pathogenic	1 lab	9f25612dbf
5:149247738 PDE6A C>A	5	149247738	149247738	C	A	PDE6A	c.2136-17G>T	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149247738C>A	(Likely) benign	1 lab	9f25730971
16:1497640 CLCN7 G>A	16	1497640	1497640	G	A	CLCN7	c.2073+16C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1497640G>A	(Likely) benign	1 lab	9f25dea391
11:65314959 LTBP3 G>T	11	65314959	65314959	G	T	LTBP3	c.2058C>A	NM_001130144.2	NP_001123616.1:p.(Asn686Lys)	NC_000011.9:g.65314959G>T	(Likely) benign	1 lab	0f3646c23c
14:24730984 TGM1 C>T	14	24730984	24730984	C	T	TGM1	c.425G>A	NM_000359.2	NP_000350.1:p.(Arg142His)	NC_000014.8:g.24730984C>T	(Likely) pathogenic	1 lab	9f2d4ae3ce
11:108236282 ATM T>C	11	108236282	108236282	T	C	ATM	c.*47T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236282T>C	(Likely) benign	1 lab	9f2f7e18f3
9:71855021 TJP2 C>T	9	71855021	71855021	C	T	TJP2	c.2617C>T	NM_001170416.1	NP_001163887.1:p.(Gln873Ter)	NC_000009.11:g.71855021C>T	(Likely) pathogenic	1 lab	9f325732e2
13:23914114 SACS G>A	13	23914114	23914114	G	A	SACS	c.3901C>T	NM_014363.4	NP_055178.3:p.(Gln1301Ter)	NC_000013.10:g.23914114G>A	(Likely) pathogenic	1 lab	9f328fa9d1
9:139404286 NOTCH1 G>A	9	139404286	139404286	G	A	NOTCH1	c.2868C>T	NM_017617.3	NP_060087.3:p.(Asn956=)	NC_000009.11:g.139404286G>A	(Likely) benign	1 lab	9f339f80b8
13:113803460 F10 C>T	13	113803460	113803460	C	T	F10	c.1096C>T	NM_000504.3	NP_000495.1:p.(Arg366Cys)	NC_000013.10:g.113803460C>T	VUS	1 lab	9f36d8664c
11:46741320 F2 G>A	11	46741320	46741320	G	A	F2				NC_000011.9:g.46741320G>A	(Likely) pathogenic	1 lab	9f3875664e
2:179640269 TTN C>G	2	179640269	179640269	C	G	TTN	c.6322G>C	NM_001267550.2	NP_001254479.2:p.(Glu2108Gln)	NC_000002.11:g.179640269C>G	VUS	1 lab	9f3a09cb86
19:42489225 ATP1A3 G>A	19	42489225	42489225	G	A	ATP1A3	c.838C>T	NM_152296.5	NP_689509.1:p.(His280Tyr)	NC_000019.9:g.42489225G>A	VUS	1 lab	9f3b3ce22f
15:93543755 CHD2 A>C	15	93543755	93543755	A	C	CHD2	c.4022A>C	NM_001271.3	NP_001262.3:p.(Lys1341Thr)	NC_000015.9:g.93543755A>C	(Likely) benign	1 lab	9f3b97ee42
8:1728584 CLN8 C>G	8	1728584	1728584	C	G	CLN8	c.712C>G	NM_018941.3	NP_061764.2:p.(Leu238Val)	NC_000008.10:g.1728584C>G	VUS	1 lab	9f3ca57930
9:131379968 SPTAN1 G>A	9	131379968	131379968	G	A	SPTAN1				NC_000009.11:g.131379968G>A	VUS	1 lab	9f3ce5fc3c
9:138650285 KCNT1 G>A	9	138650285	138650285	G	A	KCNT1	c.785G>A	NM_020822.2	NP_065873.2:p.(Arg262Gln)	NC_000009.11:g.138650285G>A	(Likely) pathogenic	1 lab	9f3e99cc01
19:49713558 TRPM4 T>C	19	49713558	49713558	T	C	TRPM4	c.3224T>C	NM_017636.3	NP_060106.2:p.(Leu1075Pro)	NC_000019.9:g.49713558T>C	VUS	1 lab	9f3fd66fcf
2:60773339 BCL11A C>A	2	60773339	60773339	C	A	BCL11A	c.152G>T	NM_022893.4	NP_075044.2:p.(Cys51Phe)	NC_000002.11:g.60773339C>A	VUS	1 lab	9f3ff3736c
1:103379960 COL11A1 C>T	1	103379960	103379960	C	T	COL11A1	c.3926G>A	NM_001854.4	NP_001845.3:p.(Gly1309Asp)	NC_000001.10:g.103379960C>T	VUS	1 lab	9f438b5832
X:49088170 CACNA1F C>T	X	49088170	49088170	C	T	CACNA1F	c.245G>A	NM_005183.3	NP_005174.2:p.(Arg82Gln)	NC_000023.10:g.49088170C>T	(Likely) pathogenic	1 lab	9f448ab929
11:108206539 ATM G>C	11	108206539	108206539	G	C	ATM	c.8152-33G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108206539G>C	(Likely) benign	1 lab	9f45e246c2
2:145187562 ZEB2 AC>A	2	145187562	145187564	AC	A	ZEB2	c.104del	NM_014795.4	NP_055610.1:p.(Gly35ValfsTer40)	NC_000002.11:g.145187564del	(Likely) pathogenic	1 lab	9f4693b440
9:140648742 EHMT1 C>T	9	140648742	140648742	C	T	EHMT1	c.1368C>T	NM_024757.4	NP_079033.4:p.(Leu456=)	NC_000009.11:g.140648742C>T	(Likely) benign	1 lab	9f493f6900
2:179498140 TTN C>A	2	179498140	179498140	C	A	TTN	c.16126G>T	NM_133432.3	NP_597676.3:p.(Ala5376Ser)	NC_000002.11:g.179498140C>A	(Likely) pathogenic	1 lab	9f4b5a61ac
1:33960567 ZSCAN20 T>C	1	33960567	33960567	T	C	ZSCAN20	c.2623T>C	NM_145238.3	NP_660281.2:p.(Tyr875His)	NC_000001.10:g.33960567T>C	VUS	1 lab	9f4be7bc19
21:45711011 AIRE G>A	21	45711011	45711011	G	A	AIRE	c.913G>A	NM_000383.4	NP_000374.1:p.(Gly305Ser)	NC_000021.8:g.45711011G>A	(Likely) pathogenic	1 lab	9f4db57990
7:135261167 NUP205 T>C	7	135261167	135261167	T	C	NUP205	c.488+5T>C	NM_015135.2	NP_055950.1:p.?	NC_000007.13:g.135261167T>C	(Likely) benign	1 lab	0f3dabb64d
5:140058699 HARS C>T	5	140058699	140058699	C	T	HARS				NC_000005.9:g.140058699C>T	VUS	1 lab	9f507003b2
22:21156293 PI4KA C>A	22	21156293	21156293	C	A	PI4KA	c.1692G>T	NM_058004.4	NP_477352.3:p.(Gln564His)	NC_000022.10:g.21156293C>A	VUS	1 lab	9f5118c366
6:117996818 NUS1 T>C	6	117996818	117996818	T	C	NUS1	c.-16T>C	NM_138459.5	NP_612468.1:p.?	NC_000006.11:g.117996818T>C	(Likely) benign	1 lab	9f593b3461
1:196706677 CFH G>C	1	196706677	196706677	G	C	CFH	c.2669G>C	NM_000186.4	NP_000177.2:p.(Ser890Thr)	NC_000001.10:g.196706677G>C	VUS	1 lab	9f599ca77d
17:76115181 TMC6 A>T	17	76115181	76115181	A	T	TMC6	c.1812-54T>A	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76115181A>T	(Likely) benign	1 lab	9f60744610
4:16002163 PROM1 C>A	4	16002163	16002163	C	A	PROM1	c.1534G>T	NM_006017.2	NP_006008.1:p.(Glu512Ter)	NC_000004.11:g.16002163C>A	(Likely) pathogenic	1 lab	9f6183f71f
X:135067884 SLC9A6 C>G	X	135067884	135067884	C	G	SLC9A6	c.223C>G	NM_001042537.1	NP_001036002.1:p.(Leu75Val)	NC_000023.10:g.135067884C>G	VUS	1 lab	9f64e9e1c4
2:39294797 SOS1 G>C	2	39294797	39294797	G	C	SOS1	c.185C>G	NM_005633.4	NP_005624.2:p.(Ala62Gly)	NC_000002.11:g.39294797G>C	VUS	1 lab	9f680b1a4f
17:78081424 GAA C>T	17	78081424	78081424	C	T	GAA	c.761C>T	NM_000152.4	NP_000143.2:p.(Ser254Leu)	NC_000017.10:g.78081424C>T	VUS	1 lab	9f6a5bbf58
5:137735597 KDM3B A>T	5	137735597	137735597	A	T	KDM3B	c.3095A>T	NM_016604.3	NP_057688.2:p.(Asp1032Val)	NC_000005.9:g.137735597A>T	VUS	1 lab	9f6abdf146
18:19751254 GATA6 G>A	18	19751254	19751254	G	A	GATA6	c.149G>A	NM_005257.5	NP_005248.2:p.(Gly50Glu)	NC_000018.9:g.19751254G>A	(Likely) benign	1 lab	9f70240fc4
5:131721051 SLC22A5 A>G	5	131721051	131721051	A	G	SLC22A5	c.756A>G	NM_001308122.1	NP_001295051.1:p.(Ile252Met)	NC_000005.9:g.131721051A>G	(Likely) benign	1 lab	9f70ee74f8
7:5632961 FSCN1 T>C	7	5632961	5632961	T	C	FSCN1	c.394T>C	NM_003088.3	NP_003079.1:p.(Trp132Arg)	NC_000007.13:g.5632961T>C	VUS	1 lab	9f73f62218
4:106157573 TET2 C>G	4	106157573	106157573	C	G	TET2	c.2474C>G	NM_001127208.3	NP_001120680.1:p.(Ser825Ter)	NC_000004.11:g.106157573C>G	(Likely) pathogenic	1 lab	9f77ea9f6c
1:11884561 CLCN6 A>G	1	11884561	11884561	A	G	CLCN6	c.599A>G	NM_001286.5	NP_001277.2:p.(Glu200Gly)	NC_000001.10:g.11884561A>G	VUS	1 lab	9f788a2e02
13:113770003 F7 G>A	13	113770003	113770003	G	A	F7	c.460G>A	NM_000131.4	NP_000122.1:p.(Glu154Lys)	NC_000013.10:g.113770003G>A	VUS	1 lab	9f7ab4a684
2:73676746 MISSING C>G	2	73676746	73676746	C	G	MISSING				NC_000002.11:g.73676746C>G	(Likely) benign	1 lab	a00b31f990
4:149041372 NR3C2 C>T	4	149041372	149041372	C	T	NR3C2	c.2578G>A	NM_000901.5	NP_000892.2:p.(Val860Ile)	NC_000004.11:g.149041372C>T	(Likely) benign	1 lab	0f3e1af31a
10:48382198 RBP3 C>T	10	48382198	48382198	C	T	RBP3	c.3451G>A	NM_002900.2	NP_002891.1:p.(Ala1151Thr)	NC_000010.10:g.48382198C>T	VUS	1 lab	9f7cac8df8
1:150297486 PRPF3 C>T	1	150297486	150297486	C	T	PRPF3	c.86C>T	NM_004698.2	NP_004689.1:p.(Thr29Met)	NC_000001.10:g.150297486C>T	VUS	1 lab	9f801c654a
8:61655658 CHD7 T>C	8	61655658	61655658	T	C	CHD7	c.1665+2T>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61655658T>C	(Likely) pathogenic	1 lab	9f8597f498
10:102748371 TWNK G>A	10	102748371	102748371	G	A	TWNK	c.404G>A	NM_021830.4	NP_068602.2:p.(Gly135Glu)	NC_000010.10:g.102748371G>A	VUS	1 lab	9fb466cc14
20:57598973 TUBB1 T>C	20	57598973	57598973	T	C	TUBB1	c.491T>C	NM_030773.3	NP_110400.1:p.(Met164Thr)	NC_000020.10:g.57598973T>C	VUS	1 lab	9f8d217a9c
11:118390798 KMT2A G>A	11	118390798	118390798	G	A	KMT2A	c.11429+19G>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118390798G>A	(Likely) benign	1 lab	9f907c02ef
3:53787593 CACNA1D C>T	3	53787593	53787593	C	T	CACNA1D	c.3736-6C>T	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53787593C>T	(Likely) benign	1 lab	38966788ea
3:33114075 GLB1 A>G	3	33114075	33114075	A	G	GLB1				NC_000003.11:g.33114075A>G	VUS	1 lab	9f95d8253f
12:6128085 VWF G>A	12	6128085	6128085	G	A	VWF	c.4499C>T	NM_000552.3	NP_000543.2:p.(Ala1500Val)	NC_000012.11:g.6128085G>A	(Likely) benign	1 lab	9fa0d1a79e
6:30691734 TUBB A>G	6	30691734	30691734	A	G	TUBB	c.895A>G	NM_178014.3	NP_821133.1:p.(Met299Val)	NC_000006.11:g.30691734A>G	(Likely) pathogenic	1 lab	9fa2a74475
X:107813970 COL4A5 T>G	X	107813970	107813970	T	G	COL4A5	c.385-673T>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107813970T>G	(Likely) pathogenic	1 lab	9fa3051419
15:67459181 SMAD3 C>T	15	67459181	67459181	C	T	SMAD3	c.597C>T	NM_005902.3	NP_005893.1:p.(Ser199=)	NC_000015.9:g.67459181C>T	(Likely) benign	1 lab	9fa59cc3a7
17:29422054 NF1 T>C	17	29422054	29422054	T	C	NF1	c.-274T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29422054T>C	VUS	1 lab	9fa7692d41
X:153420077 OPN1LW T>C	X	153420077	153420077	T	C	OPN1LW	c.607T>C	NM_020061.5	NP_064445.2:p.(Cys203Arg)	NC_000023.10:g.153420077T>C	(Likely) pathogenic	1 lab	9fa84461e3
11:108158278 ATM G>A	11	108158278	108158278	G	A	ATM	c.3994-49G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108158278G>A	(Likely) benign	1 lab	9facc7180b
6:43640064 MRPS18A A>G	6	43640064	43640064	A	G	MRPS18A	c.447-421T>C	NM_018135.4	NP_060605.1:p.?	NC_000006.11:g.43640064A>G	(Likely) benign	1 lab	09f508de55
11:62388114 B3GAT3 G>A	11	62388114	62388114	G	A	B3GAT3	c.112C>T	NM_012200.4	NP_036332.2:p.(Arg38Trp)	NC_000011.9:g.62388114G>A	VUS	1 lab	9fae322a79
12:9013551 A2ML1 T>G	12	9013551	9013551	T	G	A2ML1	c.3339T>G	NM_144670.4	NP_653271.2:p.(Asp1113Glu)	NC_000012.11:g.9013551T>G	VUS	1 lab	9fb2350a6d
5:58270676 PDE4D C>A	5	58270676	58270676	C	A	PDE4D	c.2245G>T	NM_001104631.2	NP_001098101.1:p.(Glu749Ter)	NC_000005.9:g.58270676C>A	VUS	1 lab	9fb2e1903b
2:179437168 TTN T>A	2	179437168	179437168	T	A	TTN	c.73691A>T	NM_001267550.2	NP_001254479.2:p.(Lys24564Ile)	NC_000002.11:g.179437168T>A	VUS	1 lab	9fb6ad224d
9:136220654 SURF1 TGAG>T	9	136220654	136220663	TGAG	T	SURF1	c.462_464del	NM_003172.4	NP_003163.1:p.(Ser155del)	NC_000009.11:g.136220661_136220663del	VUS	1 lab	09f627f1d7
17:7578404 TP53 A>T	17	7578404	7578404	A	T	TP53	c.526T>A	NM_000546.5	NP_000537.3:p.(Cys176Ser)	NC_000017.10:g.7578404A>T	(Likely) pathogenic	1 lab	9fbd98fdda
9:137697059 COL5A1 C>T	9	137697059	137697059	C	T	COL5A1	c.3257C>T	NM_000093.4	NP_000084.3:p.(Ala1086Val)	NC_000009.11:g.137697059C>T	VUS	1 lab	9fc03f8f96
11:17667439 OTOG G>C	11	17667439	17667439	G	C	OTOG				NC_000011.9:g.17667439G>C	(Likely) benign	1 lab	9fc3dac954
12:1965211 CACNA2D4 G>A	12	1965211	1965211	G	A	CACNA2D4	c.2119C>T	NM_172364.5	NP_758952.4:p.(Arg707Cys)	NC_000012.11:g.1965211G>A	VUS	1 lab	09f77b75a4
2:179426294 TTN A>G	2	179426294	179426294	A	G	TTN	c.84565T>C	NM_001267550.2	NP_001254479.2:p.(Tyr28189His)	NC_000002.11:g.179426294A>G	VUS	1 lab	9fca46626f
15:65369382 KBTBD13 G>C	15	65369382	65369382	G	C	KBTBD13	c.229G>C	NM_001101362.2	NP_001094832.1:p.(Glu77Gln)	NC_000015.9:g.65369382G>C	(Likely) benign	1 lab	9fcb110c2a
19:39062852 RYR1 T>C	19	39062852	39062852	T	C	RYR1	c.13940T>C	NM_000540.2	NP_000531.2:p.(Leu4647Pro)	NC_000019.9:g.39062852T>C	(Likely) pathogenic	1 lab	9fce668c46
5:1878578 IRX4 C>T	5	1878578	1878578	C	T	IRX4	c.1143G>A	NM_001278635.1	NP_001265564.1:p.(Pro381=)	NC_000005.9:g.1878578C>T	(Likely) benign	1 lab	9fcf1d7ece
3:93611783 PROS1 C>T	3	93611783	93611783	C	T	PROS1	c.1149G>A	NM_000313.4	NP_000304.2:p.(Trp383Ter)	NC_000003.11:g.93611783C>T	(Likely) pathogenic	1 lab	9fcff62501
16:335708 PDIA2 G>A	16	335708	335708	G	A	PDIA2	c.1119+5G>A	NM_006849.4	NP_006840.2:p.?	NC_000016.9:g.335708G>A	VUS	1 lab	09ff032a05
7:154595624 DPP6 C>T	7	154595624	154595624	C	T	DPP6	c.1272C>T	NM_001936.5	NP_001927.3:p.(Asp424=)	NC_000007.13:g.154595624C>T	(Likely) benign	1 lab	09ff9b9e96
2:179575840 TTN C>A	2	179575840	179575840	C	A	TTN	c.28123G>T	NM_001267550.2	NP_001254479.2:p.(Ala9375Ser)	NC_000002.11:g.179575840C>A	VUS	1 lab	9fd83de77f
19:55530035 GP6 C>T	19	55530035	55530035	C	T	GP6	c.709G>A	NM_001083899.2	NP_001077368.2:p.(Glu237Lys)	NC_000019.9:g.55530035C>T	(Likely) benign	1 lab	09ffdfaa32
3:38784009 SCN10A A>G	3	38784009	38784009	A	G	SCN10A	c.1879T>C	NM_006514.3	NP_006505.3:p.(Ser627Pro)	NC_000003.11:g.38784009A>G	VUS	1 lab	9fdffa78fb
12:33030910 PKP2 T>G	12	33030910	33030910	T	G	PKP2	c.904A>C	NM_004572.3	NP_004563.2:p.(Arg302=)	NC_000012.11:g.33030910T>G	(Likely) benign	1 lab	9fe06dda68
22:37325833 CSF2RB C>T	22	37325833	37325833	C	T	CSF2RB	c.702C>T	NM_000395.3	NP_000386.1:p.(Cys234=)	NC_000022.10:g.37325833C>T	(Likely) benign	1 lab	0a059abfdb
3:15685948 BTD C>G	3	15685948	15685948	C	G	BTD	c.585C>G	NM_000060.4	NP_000051.1:p.(Asn195Lys)	NC_000003.11:g.15685948C>G	VUS	1 lab	9fe602e648
12:115110087 TBX3 G>C	12	115110087	115110087	G	C	TBX3	c.1791C>G	NM_016569.3	NP_057653.3:p.(Phe597Leu)	NC_000012.11:g.115110087G>C	(Likely) benign	1 lab	9fe8838c9d
21:33065649 SCAF4 G>A	21	33065649	33065649	G	A	SCAF4	c.1471C>T	NM_020706.2	NP_065757.1:p.(Arg491Ter)	NC_000021.8:g.33065649G>A	(Likely) pathogenic	1 lab	9fe907297a
2:179610763 TTN G>A	2	179610763	179610763	G	A	TTN	c.11312-4115C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179610763G>A	VUS	1 lab	9fe92864af
7:153750045 DPP6 GG>GG	7	153750045	153750046	GG	GG	DPP6				NC_000007.13:g.153750045_153750046=	(Likely) benign	1 lab	9feb324de2
11:86662310 FZD4 C>T	11	86662310	86662310	C	T	FZD4				NC_000011.9:g.86662310C>T	(Likely) pathogenic	1 lab	9fec267d86
13:32890599 BRCA2 T>C	13	32890599	32890599	T	C	BRCA2	c.2T>C	NM_000059.3	NP_000050.2:p.(Met1?)	NC_000013.10:g.32890599T>C	(Likely) pathogenic	1 lab	9fee5ee874
8:94777641 TMEM67 C>T	8	94777641	94777641	C	T	TMEM67	c.514C>T	NM_153704.5	NP_714915.3:p.(Arg172Ter)	NC_000008.10:g.94777641C>T	(Likely) pathogenic	1 lab	0f45d25148
4:3495295 DOK7 C>T	4	3495295	3495295	C	T	DOK7	c.*67C>T	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3495295C>T	(Likely) benign	1 lab	9fefdd9163
15:48593580 SLC12A1 G>A	15	48593580	48593580	G	A	SLC12A1	c.3164+1G>A	NM_000338.2	NP_000329.2:p.?	NC_000015.9:g.48593580G>A	(Likely) pathogenic	1 lab	9ff2539f32
6:29912413 HLA-A TG>T	6	29912413	29912417	TG	T	HLA-A	c.1012+24del	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29912417del	(Likely) benign	1 lab	0a08858138
18:29126444 DSG2 C>T	18	29126444	29126444	C	T	DSG2	c.3095C>T	NM_001943.3	NP_001934.2:p.(Thr1032Ile)	NC_000018.9:g.29126444C>T	(Likely) benign	1 lab	9ffc2b43ba
1:78401527 NEXN C>A	1	78401527	78401527	C	A	NEXN	c.1271C>A	NM_144573.4	NP_653174.3:p.(Thr424Asn)	NC_000001.10:g.78401527C>A	VUS	1 lab	9ffc46406d
X:152991380 ABCD1 T>C	X	152991380	152991380	T	C	ABCD1	c.659T>C	NM_000033.3	NP_000024.2:p.(Leu220Pro)	NC_000023.10:g.152991380T>C	(Likely) pathogenic	1 lab	9ffd4678d5
16:89880927 FANCA C>T	16	89880927	89880927	C	T	FANCA	c.283+1G>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89880927C>T	(Likely) pathogenic	1 lab	9fffd7041d
13:32889753 BRCA2 G>C	13	32889753	32889753	G	C	BRCA2	c.-91G>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32889753G>C	(Likely) benign	1 lab	a000b41304
1:207967719 CD46 T>C	1	207967719	207967719	T	C	CD46	c.*897T>C	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207967719T>C	(Likely) pathogenic	1 lab	a0017ddf9d
11:108153457 ATM A>G	11	108153457	108153457	A	G	ATM	c.3597A>G	NM_000051.3	NP_000042.3:p.(Glu1199=)	NC_000011.9:g.108153457A>G	(Likely) benign	1 lab	a00286e9c4
4:73003756 NPFFR2 G>A	4	73003756	73003756	G	A	NPFFR2	c.635-1G>A	NM_004885.2	NP_004876.2:p.?	NC_000004.11:g.73003756G>A	VUS	1 lab	a00370234d
20:485833 CSNK2A1 C>T	20	485833	485833	C	T	CSNK2A1				NC_000020.10:g.485833C>T	(Likely) pathogenic	1 lab	a003d29d64
22:51065306 ARSA C>G	22	51065306	51065306	C	G	ARSA	c.640G>C	NM_000487.6	NP_000478.3:p.(Ala214Pro)	NC_000022.10:g.51065306C>G	VUS	1 lab	a50926ab75
1:196876507 CFHR4 G>A	1	196876507	196876507	G	A	CFHR4	c.678G>A	NM_001201550.3	NP_001188479.1:p.(Pro226=)	NC_000001.10:g.196876507G>A	(Likely) benign	1 lab	a0079be7f7
6:38820533 DNAH8 C>A	6	38820533	38820533	C	A	DNAH8	c.5530C>A	NM_001206927.2	NP_001193856.1:p.(Arg1844Ser)	NC_000006.11:g.38820533C>A	VUS	1 lab	a008a5f03b
1:186839661 PLA2G4A T>A	1	186839661	186839661	T	A	PLA2G4A	c.115+13T>A	NM_024420.2	NP_077734.1:p.?	NC_000001.10:g.186839661T>A	(Likely) benign	1 lab	0f4b511e6a
6:111737571 REV3L T>C	6	111737571	111737571	T	C	REV3L	c.244A>G	NM_002912.5	NP_002903.3:p.(Ser82Gly)	NC_000006.11:g.111737571T>C	VUS	1 lab	0a094ca9a8
13:32910613 BRCA2 T>G	13	32910613	32910613	T	G	BRCA2	c.2121T>G	NM_000059.3	NP_000050.2:p.(Asp707Glu)	NC_000013.10:g.32910613T>G	(Likely) benign	1 lab	a0100d36a6
17:10533211 MYH3 A>T	17	10533211	10533211	A	T	MYH3	c.5606T>A	NM_002470.4	NP_002461.2:p.(Val1869Glu)	NC_000017.10:g.10533211A>T	VUS	1 lab	a0111fadf6
12:80626878 OTOGL G>A	12	80626878	80626878	G	A	OTOGL	c.790+1G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80626878G>A	(Likely) pathogenic	1 lab	a01670e317
3:128614151 ACAD9 A>G	3	128614151	128614151	A	G	ACAD9	c.347-2A>G	NM_014049.4	NP_054768.2:p.?	NC_000003.11:g.128614151A>G	VUS	1 lab	a0175ea7e5
2:220283448 DES G>C	2	220283448	220283448	G	C	DES	c.264G>C	NM_001927.3	NP_001918.3:p.(Leu88=)	NC_000002.11:g.220283448G>C	(Likely) benign	1 lab	a0176d811a
16:3707054 DNASE1 C>T	16	3707054	3707054	C	T	DNASE1	c.491C>T	NM_005223.3	NP_005214.2:p.(Ala164Val)	NC_000016.9:g.3707054C>T	(Likely) benign	1 lab	0f4c3e7725
16:3713522 DNASE1 C>A	16	3713522	3713522	C	A	DNASE1	c.*897C>A	NM_001387140.1	NP_001374069.1:p.?	NC_000016.9:g.3713522C>A	VUS	1 lab	0a0cdabc94
11:2906346 CDKN1C G>T	11	2906346	2906346	G	T	CDKN1C	c.374C>A	NM_000076.2	NP_000067.1:p.(Ser125Tyr)	NC_000011.9:g.2906346G>T	VUS	1 lab	0a0f20b760
6:33402928 SYNGAP1 G>A	6	33402928	33402928	G	A	SYNGAP1	c.510-1G>A	NM_006772.2	NP_006763.2:p.?	NC_000006.11:g.33402928G>A	(Likely) pathogenic	1 lab	a01d41f7fd
12:110029113 MVK T>C	12	110029113	110029113	T	C	MVK	c.836T>C	NM_000431.2	NP_000422.1:p.(Leu279Pro)	NC_000012.11:g.110029113T>C	VUS	1 lab	0f4c851488
17:39777840 KRT17 C>T	17	39777840	39777840	C	T	KRT17	c.834+5G>A	NM_000422.3	NP_000413.1:p.?	NC_000017.10:g.39777840C>T	(Likely) benign	1 lab	0a16218587
X:31222190 DMD C>T	X	31222190	31222190	C	T	DMD	c.9695G>A	NM_004006.2	NP_003997.1:p.(Arg3232His)	NC_000023.10:g.31222190C>T	VUS	1 lab	a020e73a42
3:52437263 BAP1 C>CA	3	52437263	52437264	C	CA	BAP1	c.1780_1781insT	NM_004656.3	NP_004647.1:p.(Gly594ValfsTer49)	NC_000003.11:g.52437263_52437264insA	(Likely) pathogenic	1 lab	a021a53eda
13:32915060 BRCA2 G>A	13	32915060	32915060	G	A	BRCA2	c.6568G>A	NM_000059.3	NP_000050.2:p.(Val2190Ile)	NC_000013.10:g.32915060G>A	(Likely) benign	1 lab	a02275a376
2:179448492 TTN C>T	2	179448492	179448492	C	T	TTN	c.65417G>A	NM_001267550.2	NP_001254479.2:p.(Arg21806Gln)	NC_000002.11:g.179448492C>T	VUS	1 lab	a02b01ca89
9:98231322 PTCH1 G>A	9	98231322	98231322	G	A	PTCH1	c.1961C>T	NM_000264.5	NP_000255.2:p.(Thr654Met)	NC_000009.11:g.98231322G>A	VUS	1 lab	0a170501b0
5:112175285 APC ACCAAATCCAGC>A	5	112175285	112175296	ACCAAATCCAGC	A	APC	c.3995_4005del	NM_000038.6	NP_000029.2:p.(Thr1332LysfsTer6)	NC_000005.9:g.112175286_112175296del	(Likely) pathogenic	1 lab	a02eb3d885
22:51160168 MISSING C>T	22	51160168	51160168	C	T	MISSING				NC_000022.10:g.51160168C>T	(Likely) pathogenic	1 lab	a02ef3d022
3:37090087 MLH1 G>T	3	37090087	37090087	G	T	MLH1	c.1976G>T	NM_000249.3	NP_000240.1:p.(Arg659Leu)	NC_000003.11:g.37090087G>T	(Likely) pathogenic	1 lab	a02f6b7134
X:82764177 POU3F4 G>A	X	82764177	82764177	G	A	POU3F4	c.845G>A	NM_000307.3	NP_000298.2:p.(Arg282Gln)	NC_000023.10:g.82764177G>A	(Likely) pathogenic	1 lab	a02f6bbabe
17:40474492 STAT3 C>T	17	40474492	40474492	C	T	STAT3	c.1909G>A	NM_139276.2	NP_644805.1:p.(Val637Met)	NC_000017.10:g.40474492C>T	(Likely) pathogenic	1 lab	0f547667dc
6:70951103 COL9A1 A>G	6	70951103	70951103	A	G	COL9A1	c.2034+19T>C	NM_001851.4	NP_001842.3:p.?	NC_000006.11:g.70951103A>G	(Likely) benign	1 lab	a0362aea44
15:63335070 TPM1 C>G	15	63335070	63335070	C	G	TPM1	c.42C>G	NM_001018005.1	NP_001018005.1:p.(Asp14Glu)	NC_000015.9:g.63335070C>G	VUS	1 lab	a05aed6f66
11:68455482 GAL A>ATT	11	68455482	68455484	A	ATT	GAL	c.138_139insTT	NM_015973.4	NP_057057.2:p.(Ala47LeufsTer27)	NC_000011.9:g.68455483_68455484insTT	(Likely) benign	1 lab	a036f81b96
16:2149991 PKD1 G>C	16	2149991	2149991	G	C	PKD1	c.9794C>G	NM_001009944.3	NP_001009944.3:p.(Ser3265Cys)	NC_000016.9:g.2149991G>C	(Likely) benign	1 lab	a039f540f6
11:76919468 MYO7A A>T	11	76919468	76919468	A	T	MYO7A	c.5857-7A>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76919468A>T	(Likely) benign	1 lab	a03b5fe767
12:21054369 SLCO1B3 G>A	12	21054369	21054369	G	A	SLCO1B3	c.1833G>A	NM_019844.4	NP_062818.1:p.(Gly611=)	NC_000012.11:g.21054369G>A	(Likely) benign	1 lab	0a1b33f72c
13:48881451 RB1 CTG>C	13	48881451	48881453	CTG	C	RB1	c.174_175del	NM_000321.3	NP_000312.2:p.(Ala59IlefsTer50)	NC_000013.10:g.48881452_48881453del	(Likely) pathogenic	1 lab	0a1c10ad57
17:59763275 BRIP1 C>G	17	59763275	59763275	C	G	BRIP1	c.2827G>C	NM_032043.2	NP_114432.2:p.(Val943Leu)	NC_000017.10:g.59763275C>G	(Likely) benign	1 lab	a04dd8cccd
12:52100280 SCN8A C>T	12	52100280	52100280	C	T	SCN8A	c.1416C>T	NM_001330260.2	NP_001317189.1:p.(Gly472=)	NC_000012.11:g.52100280C>T	(Likely) benign	1 lab	a04e2f06dc
2:168097214 XIRP2 CA>C	2	168097214	168097215	CA	C	XIRP2	c.1011del	NM_152381.6	NP_689594.4:p.(Ser338LeufsTer28)	NC_000002.11:g.168097215del	VUS	1 lab	a050cc80c8
2:158594060 ACVR1 A>G	2	158594060	158594060	A	G	ACVR1	c.1513T>C	NM_001105.4	NP_001096.1:p.(Leu505=)	NC_000002.11:g.158594060A>G	(Likely) benign	1 lab	a056946ab2
11:108188105 ATM G>GCAGA	11	108188105	108188109	G	GCAGA	ATM	c.6205_6208dup	NM_001351834.2	NP_001338763.1:p.(Asn2070ThrfsTer19)	NC_000011.9:g.108188106_108188109dup	(Likely) pathogenic	1 lab	a05bddb2cf
22:40706868 TNRC6B C>T	22	40706868	40706868	C	T	TNRC6B	c.4306C>T	NM_001162501.2	NP_001155973.1:p.(Gln1436Ter)	NC_000022.10:g.40706868C>T	(Likely) pathogenic	1 lab	a0603add1a
2:179582731 TTN A>G	2	179582731	179582731	A	G	TTN	c.25002T>C	NM_001267550.2	NP_001254479.2:p.(Tyr8334=)	NC_000002.11:g.179582731A>G	(Likely) benign	1 lab	a063fe16ea
2:179659718 TTN C>T	2	179659718	179659718	C	T	TTN	c.1176G>A	NM_001267550.2	NP_001254479.2:p.(Ala392=)	NC_000002.11:g.179659718C>T	(Likely) benign	1 lab	a065476454
11:47364648 MYBPC3 C>T	11	47364648	47364648	C	T	MYBPC3	c.1275G>A	NM_000256.3	NP_000247.2:p.(Gln425=)	NC_000011.9:g.47364648C>T	(Likely) benign	1 lab	a065becb4f
5:112111384 APC C>T	5	112111384	112111384	C	T	APC	c.481C>T	NM_000038.6	NP_000029.2:p.(Gln161Ter)	NC_000005.9:g.112111384C>T	(Likely) pathogenic	1 lab	a066d56fab
12:90028665 ATP2B1 G>A	12	90028665	90028665	G	A	ATP2B1	c.677C>T	NM_001366521.1	NP_001353450.1:p.(Ala226Val)	NC_000012.11:g.90028665G>A	VUS	1 lab	a06785aedd
16:3900387 CREBBP T>TG	16	3900387	3900388	T	TG	CREBBP	c.708dup	NM_004380.2	NP_004371.2:p.(Ser237GlnfsTer5)	NC_000016.9:g.3900388dup	(Likely) pathogenic	1 lab	a068ea88c3
6:116441862 COL10A1 C>T	6	116441862	116441862	C	T	COL10A1	c.1417G>A	NM_000493.3	NP_000484.2:p.(Gly473Ser)	NC_000006.11:g.116441862C>T	(Likely) benign	1 lab	a068f63b32
15:42133718 JMJD7-PLA2G4B C>T	15	42133718	42133718	C	T	JMJD7-PLA2G4B	c.1132C>T	NM_005090.3	NP_005081.1:p.(Arg378Trp)	NC_000015.9:g.42133718C>T	(Likely) benign	1 lab	0f5660511e
10:56287601 PCDH15 A>G	10	56287601	56287601	A	G	PCDH15				NC_000010.10:g.56287601A>G	VUS	1 lab	a075dee551
16:68725783 CDH3 G>A	16	68725783	68725783	G	A	CDH3	c.1956G>A	NM_001793.5	NP_001784.2:p.(Lys652=)	NC_000016.9:g.68725783G>A	(Likely) benign	1 lab	a078ad5163
12:6085272 VWF C>T	12	6085272	6085272	C	T	VWF	c.7437+5G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6085272C>T	(Likely) benign	1 lab	a079a6aafe
1:241672007 FH G>A	1	241672007	241672007	G	A	FH	c.634C>T	NM_000143.4	NP_000134.2:p.(Gln212Ter)	NC_000001.10:g.241672007G>A	(Likely) pathogenic	1 lab	a07a94daa5
X:144904164 SLITRK2 T>C	X	144904164	144904164	T	C	SLITRK2	c.221T>C	NM_001144003.2	NP_001137475.1:p.(Leu74Ser)	NC_000023.10:g.144904164T>C	VUS	1 lab	a07b7066a3
15:89398553 ACAN C>A	15	89398553	89398553	C	A	ACAN	c.2737C>A	NM_013227.3	NP_037359.3:p.(Pro913Thr)	NC_000015.9:g.89398553C>A	(Likely) benign	1 lab	a07c05bfee
5:112175411 APC G>GC	5	112175411	112175412	G	GC	APC	c.4120_4121insC	NM_000038.6	NP_000029.2:p.(Glu1374AlafsTer12)	NC_000005.9:g.112175411_112175412insC	(Likely) pathogenic	1 lab	a07e41a06f
4:123844298 SPATA5 A>C	4	123844298	123844298	A	C	SPATA5				NC_000004.11:g.123844298A>C	(Likely) pathogenic	1 lab	a07f1eb84f
X:107841960 COL4A5 GT>G	X	107841960	107841961	GT	G	COL4A5	c.1809del	NM_033380.2	NP_203699.1:p.(Pro605LeufsTer13)	NC_000023.10:g.107841961del	(Likely) pathogenic	1 lab	a083c1da52
2:167163097 SCN9A C>A	2	167163097	167163097	C	A	SCN9A				NC_000002.11:g.167163097C>A	(Likely) benign	1 lab	a0848576ae
3:38674698 SCN5A C>T	3	38674698	38674698	C	T	SCN5A	c.101G>A	NM_198056.2	NP_932173.1:p.(Arg34His)	NC_000003.11:g.38674698C>T	VUS	1 lab	a0898c0493
X:53228292 KDM5C C>T	X	53228292	53228292	C	T	KDM5C	c.2110G>A	NM_004187.3	NP_004178.2:p.(Glu704Lys)	NC_000023.10:g.53228292C>T	(Likely) pathogenic	1 lab	a08bcbb151
12:50349221 AQP2 T>C	12	50349221	50349221	T	C	AQP2				NC_000012.11:g.50349221T>C	(Likely) pathogenic	1 lab	a091f497fb
8:100865919 VPS13B T>A	8	100865919	100865919	T	A	VPS13B	c.10377T>A	NM_017890.4	NP_060360.3:p.(Tyr3459Ter)	NC_000008.10:g.100865919T>A	(Likely) pathogenic	1 lab	a09465b7bb
3:58141747 FLNB T>C	3	58141747	58141747	T	C	FLNB	c.6833T>C	NM_001457.4	NP_001448.2:p.(Val2278Ala)	NC_000003.11:g.58141747T>C	(Likely) benign	1 lab	a099c87737
11:76895693 MYO7A C>T	11	76895693	76895693	C	T	MYO7A	c.3436C>T	NM_000260.3	NP_000251.3:p.(Arg1146Trp)	NC_000011.9:g.76895693C>T	(Likely) benign	1 lab	a09a95bf60
12:133236018 POLE G>A	12	133236018	133236018	G	A	POLE	c.3138C>T	NM_006231.4	NP_006222.2:p.(Tyr1046=)	NC_000012.11:g.133236018G>A	(Likely) benign	1 lab	a09aeab51e
13:40268762 COG6 T>G	13	40268762	40268762	T	G	COG6	c.1075-9T>G	NM_020751.2	NP_065802.1:p.?	NC_000013.10:g.40268762T>G	(Likely) pathogenic	1 lab	a0a236f4e4
17:18058028 MYO15A G>A	17	18058028	18058028	G	A	MYO15A	c.8183G>A	NM_016239.3	NP_057323.3:p.(Arg2728His)	NC_000017.10:g.18058028G>A	(Likely) pathogenic	1 lab	a0a6455c7f
13:102047617 NALCN C>A	13	102047617	102047617	C	A	NALCN	c.208G>T	NM_052867.4	NP_443099.1:p.(Val70Leu)	NC_000013.10:g.102047617C>A	VUS	1 lab	0a24d83539
11:118452226 ARCN1 T>C	11	118452226	118452226	T	C	ARCN1	c.267+2T>C	NM_001655.4	NP_001646.2:p.?	NC_000011.9:g.118452226T>C	(Likely) pathogenic	1 lab	a0a7b0f55e
13:32889718 BRCA2 C>T	13	32889718	32889718	C	T	BRCA2	c.-126C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889718C>T	(Likely) benign	1 lab	a0a7cf658c
11:68540743 CPT1A G>A	11	68540743	68540743	G	A	CPT1A	c.1730C>T	NM_001876.3	NP_001867.2:p.(Ala577Val)	NC_000011.9:g.68540743G>A	VUS	1 lab	a0a863a68f
1:215848628 USH2A C>T	1	215848628	215848628	C	T	USH2A	c.12625G>A	NM_206933.4	NP_996816.3:p.(Glu4209Lys)	NC_000001.10:g.215848628C>T	VUS	1 lab	a0aacfafc3
11:47371478 MYBPC3 A>G	11	47371478	47371478	A	G	MYBPC3	c.506-5T>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371478A>G	(Likely) benign	1 lab	a0ae30beaa
2:47635714 MSH2 A>G	2	47635714	47635714	A	G	MSH2	c.366+20A>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47635714A>G	VUS	1 lab	a0af8c198a
16:58621701 CNOT1 G>T	16	58621701	58621701	G	T	CNOT1	c.292C>A	NM_016284.4	NP_057368.3:p.(Pro98Thr)	NC_000016.9:g.58621701G>T	VUS	1 lab	a0b091d4b5
2:39239474 SOS1 T>G	2	39239474	39239474	T	G	SOS1				NC_000002.11:g.39239474T>G	(Likely) pathogenic	1 lab	a0b4994534
1:224619415 WDR26 C>T	1	224619415	224619415	C	T	WDR26	c.791G>A	NM_001379403.1	NP_001366332.1:p.(Arg264Gln)	NC_000001.10:g.224619415C>T	VUS	1 lab	a0b88fffb8
14:50611974 SOS2 G>A	14	50611974	50611974	G	A	SOS2	c.2581C>T	NM_006939.4	NP_008870.2:p.(Gln861Ter)	NC_000014.8:g.50611974G>A	(Likely) pathogenic	1 lab	a0ba15a03a
16:23641295 PALB2 G>A	16	23641295	23641295	G	A	PALB2	c.2180C>T	NM_024675.3	NP_078951.2:p.(Ala727Val)	NC_000016.9:g.23641295G>A	(Likely) benign	1 lab	a0bcf57b4e
16:69874055 MISSING C>A	16	69874055	69874055	C	A	MISSING				NC_000016.9:g.69874055C>A	VUS	1 lab	a0c469a232
2:152554164 NEB T>C	2	152554164	152554164	T	C	NEB	c.1153-2A>G	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152554164T>C	VUS	1 lab	a0c6bb4a04
1:196659352 CFH C>T	1	196659352	196659352	C	T	CFH	c.1319C>T	NM_000186.4	NP_000177.2:p.(Pro440Leu)	NC_000001.10:g.196659352C>T	VUS	1 lab	a0c717cdbc
13:20763497 GJB2 C>T	13	20763497	20763497	C	T	GJB2	c.224G>A	NM_004004.5	NP_003995.2:p.(Arg75Gln)	NC_000013.10:g.20763497C>T	(Likely) pathogenic	1 lab	a0c72bbbc8
3:154886583 MME C>G	3	154886583	154886583	C	G	MME	c.1977C>G	NM_007289.4	NP_009220.2:p.(Tyr659Ter)	NC_000003.11:g.154886583C>G	VUS	1 lab	a0c9c334ec
10:43600391 RET G>A	10	43600391	43600391	G	A	RET	c.626-9G>A	NM_020975.6	NP_066124.1:p.?	NC_000010.10:g.43600391G>A	(Likely) pathogenic	1 lab	a0cc8f2c0b
14:57268475 OTX2 G>A	14	57268475	57268475	G	A	OTX2	c.872C>T	NM_021728.3	NP_068374.1:p.(Ser291Leu)	NC_000014.8:g.57268475G>A	VUS	1 lab	a0ce324218
17:41245341 BRCA1 T>C	17	41245341	41245341	T	C	BRCA1	c.2207A>G	NM_007294.3	NP_009225.1:p.(Glu736Gly)	NC_000017.10:g.41245341T>C	(Likely) benign	1 lab	a0ce370454
7:140500276 BRAF A>T	7	140500276	140500276	A	T	BRAF	c.866T>A	NM_004333.6	NP_004324.2:p.(Leu289Gln)	NC_000007.13:g.140500276A>T	VUS	1 lab	a0ceb67618
1:156104375 LMNA G>T	1	156104375	156104375	G	T	LMNA	c.639+56G>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156104375G>T	(Likely) benign	1 lab	a0cf79d4b2
5:140076811 HARS2 A>G	5	140076811	140076811	A	G	HARS2	c.1017A>G	NM_012208.3	NP_036340.1:p.(Ala339=)	NC_000005.9:g.140076811A>G	VUS	1 lab	a0d021049d
1:94526230 ABCA4 C>T	1	94526230	94526230	C	T	ABCA4	c.2023G>A	NM_000350.2	NP_000341.2:p.(Val675Ile)	NC_000001.10:g.94526230C>T	(Likely) pathogenic	1 lab	a0d4666e2c
2:109381438 RANBP2 A>G	2	109381438	109381438	A	G	RANBP2	c.4443A>G	NM_006267.5	NP_006258.3:p.(Gly1481=)	NC_000002.11:g.109381438A>G	(Likely) benign	1 lab	a0dd1ded60
5:218391 SDHA C>T	5	218391	218391	C	T	SDHA	c.-80C>T	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.218391C>T	(Likely) benign	1 lab	a0dd64ae26
11:76922380 MYO7A C>T	11	76922380	76922380	C	T	MYO7A	c.6235C>T	NM_000260.3	NP_000251.3:p.(Arg2079Trp)	NC_000011.9:g.76922380C>T	VUS	1 lab	a0ddc02932
9:135779093 TSC1 C>T	9	135779093	135779093	C	T	TSC1	c.2153G>A	NM_000368.5	NP_000359.1:p.(Arg718Gln)	NC_000009.11:g.135779093C>T	VUS	1 lab	0a29058b51
15:48726830 FBN1 C>T	15	48726830	48726830	C	T	FBN1	c.6577G>A	NM_000138.4	NP_000129.3:p.(Glu2193Lys)	NC_000015.9:g.48726830C>T	VUS	1 lab	a0dfd3c0e1
14:23854164 MYH6 G>A	14	23854164	23854164	G	A	MYH6	c.5250C>T	NM_002471.3	NP_002462.2:p.(Cys1750=)	NC_000014.8:g.23854164G>A	(Likely) benign	1 lab	a0e03a4c95
11:66325510 ACTN3 G>A	11	66325510	66325510	G	A	ACTN3	c.1141G>A	NM_001104.4	NP_001095.2:p.(Ala381Thr)	NC_000011.9:g.66325510G>A	VUS	1 lab	0a3550dfcf
7:128498243 FLNC C>T	7	128498243	128498243	C	T	FLNC	c.7962C>T	NM_001458.5	NP_001449.3:p.(Asn2654=)	NC_000007.13:g.128498243C>T	(Likely) benign	1 lab	a0e3b4ae62
6:90428680 MDN1 G>A	6	90428680	90428680	G	A	MDN1	c.6127C>T	NM_014611.2	NP_055426.1:p.(His2043Tyr)	NC_000006.11:g.90428680G>A	VUS	1 lab	a0ed6f8ff4
4:502670 PIGG T>G	4	502670	502670	T	G	PIGG	c.812T>G	NM_001127178.3	NP_001120650.1:p.(Met271Arg)	NC_000004.11:g.502670T>G	VUS	1 lab	a0ee6825f4
17:78063966 CCDC40 A>G	17	78063966	78063966	A	G	CCDC40	c.2861A>G	NM_001243342.2	NP_001230271.1:p.(His954Arg)	NC_000017.10:g.78063966A>G	(Likely) benign	1 lab	0a36813c3b
1:94549923 ABCA4 C>A	1	94549923	94549923	C	A	ABCA4	c.769-926G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94549923C>A	(Likely) benign	1 lab	a0f5e42ce1
13:32889570 BRCA2 C>T	13	32889570	32889570	C	T	BRCA2				NC_000013.10:g.32889570C>T	(Likely) benign	1 lab	a0f84f0bfe
15:43896606 STRC G>C	15	43896606	43896606	G	C	STRC	c.4171C>G	NM_153700.2	NP_714544.1:p.(Arg1391Gly)	NC_000015.9:g.43896606G>C	(Likely) pathogenic	1 lab	a0f8b8d045
4:187205301 F11 T>C	4	187205301	187205301	T	C	F11	c.1191T>C	NM_000128.3	NP_000119.1:p.(Gly397=)	NC_000004.11:g.187205301T>C	(Likely) benign	1 lab	a0fd955e9a
11:61724904 BEST1 G>C	11	61724904	61724904	G	C	BEST1	c.682G>C	NM_004183.3	NP_004174.1:p.(Asp228His)	NC_000011.9:g.61724904G>C	(Likely) pathogenic	1 lab	a0fe70a049
11:68154032 LRP5 G>T	11	68154032	68154032	G	T	LRP5	c.1264G>T	NM_002335.4	NP_002326.2:p.(Ala422Ser)	NC_000011.9:g.68154032G>T	VUS	1 lab	a102588719
9:140127330 SLC34A3 G>A	9	140127330	140127330	G	A	SLC34A3	c.399G>A	NM_080877.2	NP_543153.1:p.(Gln133=)	NC_000009.11:g.140127330G>A	(Likely) benign	1 lab	a104686c7a
2:179475756 TTN C>T	2	179475756	179475756	C	T	TTN	c.51100G>A	NM_001267550.2	NP_001254479.2:p.(Gly17034Ser)	NC_000002.11:g.179475756C>T	VUS	1 lab	a1061ba493
1:16380252 CLCNKB C>T	1	16380252	16380252	C	T	CLCNKB				NC_000001.10:g.16380252C>T	(Likely) benign	1 lab	a106cc93e3
6:152774686 SYNE1 AG>A	6	152774686	152774688	AG	A	SYNE1				NC_000006.11:g.152774688del	(Likely) benign	1 lab	a10e05d5d4
22:36690992 MYH9 C>T	22	36690992	36690992	C	T	MYH9	c.3616G>A	NM_002473.4	NP_002464.1:p.(Glu1206Lys)	NC_000022.10:g.36690992C>T	VUS	1 lab	a1111a4cdf
11:76893502 MYO7A T>C	11	76893502	76893502	T	C	MYO7A	c.3142T>C	NM_000260.3	NP_000251.3:p.(Phe1048Leu)	NC_000011.9:g.76893502T>C	VUS	1 lab	a11159e92a
10:123279562 FGFR2 C>A	10	123279562	123279562	C	A	FGFR2	c.870G>T	NM_000141.4	NP_000132.3:p.(Trp290Cys)	NC_000010.10:g.123279562C>A	(Likely) pathogenic	1 lab	a111c9299b
1:216420440 USH2A A>G	1	216420440	216420440	A	G	USH2A	c.2296T>C	NM_206933.2	NP_996816.2:p.(Cys766Arg)	NC_000001.10:g.216420440A>G	VUS	1 lab	a112bd5049
3:101023130 IMPG2 A>G	3	101023130	101023130	A	G	IMPG2	c.361T>C	NM_016247.4	NP_057331.2:p.(Phe121Leu)	NC_000003.11:g.101023130A>G	VUS	1 lab	a114072443
16:23641172 PALB2 C>G	16	23641172	23641172	C	G	PALB2	c.2303G>C	NM_024675.3	NP_078951.2:p.(Cys768Ser)	NC_000016.9:g.23641172C>G	(Likely) benign	1 lab	a115b23012
2:179640429 TTN G>A	2	179640429	179640429	G	A	TTN	c.6162C>T	NM_001267550.2	NP_001254479.2:p.(Ala2054=)	NC_000002.11:g.179640429G>A	(Likely) benign	1 lab	0a394e1d4e
22:41572256 EP300 C>G	22	41572256	41572256	C	G	EP300	c.4785C>G	NM_001429.4	NP_001420.2:p.(Phe1595Leu)	NC_000022.10:g.41572256C>G	(Likely) pathogenic	1 lab	a117161e6f
22:50197851 BRD1 C>A	22	50197851	50197851	C	A	BRD1	c.1524+1G>T	NM_014577.1	NP_055392.1:p.?	NC_000022.10:g.50197851C>A	VUS	1 lab	a11ab0d156
7:91630665 AKAP9 T>C	7	91630665	91630665	T	C	AKAP9	c.1434T>C	NM_005751.4	NP_005742.4:p.(Tyr478=)	NC_000007.13:g.91630665T>C	VUS	1 lab	a11d334cec
10:73537528 CDH23 G>T	10	73537528	73537528	G	T	CDH23	c.4937G>T	NM_022124.5	NP_071407.4:p.(Gly1646Val)	NC_000010.10:g.73537528G>T	VUS	1 lab	a11e89a0b1
8:145738538 RECQL4 A>G	8	145738538	145738538	A	G	RECQL4	c.2464-17T>C	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145738538A>G	(Likely) benign	1 lab	0f63b4e0fc
1:43886406 SZT2 C>T	1	43886406	43886406	C	T	SZT2	c.1262-14C>T	NM_015284.4	NP_056099.3:p.?	NC_000001.10:g.43886406C>T	(Likely) benign	1 lab	0f68069feb
15:72978632 BBS4 C>T	15	72978632	72978632	C	T	BBS4	c.24+40C>T	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.72978632C>T	(Likely) pathogenic	1 lab	a122357b54
3:121980684 CASR GT>G	3	121980684	121980685	GT	G	CASR	c.803del	NM_000388.4	NP_000379.3:p.(Val268GlyfsTer37)	NC_000003.11:g.121980685del	(Likely) pathogenic	1 lab	a125d8cca5
11:31832381 PAX6 T>A	11	31832381	31832381	T	A	PAX6	c.-134A>T	NM_000280.4	NP_000271.1:p.?	NC_000011.9:g.31832381T>A	(Likely) benign	1 lab	a12689fe83
11:17801151 KCNC1 C>T	11	17801151	17801151	C	T	KCNC1	c.1653C>T	NM_001112741.1	NP_001106212.1:p.(Thr551=)	NC_000011.9:g.17801151C>T	(Likely) benign	1 lab	0f72c3c83f
6:51701255 PKHD1 C>T	6	51701255	51701255	C	T	PKHD1	c.8120G>A	NM_138694.4	NP_619639.3:p.(Gly2707Asp)	NC_000006.11:g.51701255C>T	VUS	1 lab	0a3d75750f
1:196920013 CFHR2 T>G	1	196920013	196920013	T	G	CFHR2	c.285T>G	NM_005666.3	NP_005657.1:p.(Gly95=)	NC_000001.10:g.196920013T>G	(Likely) benign	1 lab	a1298b3f51
13:32911905 BRCA2 A>T	13	32911905	32911905	A	T	BRCA2	c.3413A>T	NM_000059.3	NP_000050.2:p.(Gln1138Leu)	NC_000013.10:g.32911905A>T	(Likely) benign	1 lab	a129df5354
2:32353553 SPAST G>C	2	32353553	32353553	G	C	SPAST	c.1245+5G>C	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32353553G>C	(Likely) pathogenic	1 lab	a12b299f7b
15:72638991 HEXA CCTT>C	15	72638991	72638995	CCTT	C	HEXA	c.1204_1206del	NM_000520.6	NP_000511.2:p.(Lys402del)	NC_000015.9:g.72638993_72638995del	(Likely) pathogenic	1 lab	a12cf7b9e0
5:6600244 NSUN2 CTGAGA>C	5	6600244	6600250	CTGAGA	C	NSUN2	c.2094_2098del	NM_017755.6	NP_060225.4:p.(Tyr698Ter)	NC_000005.9:g.6600246_6600250del	(Likely) pathogenic	1 lab	a12dca2254
16:31497101 SLC5A2 ACAGCGGGGGTCAT>A	16	31497101	31497116	ACAGCGGGGGTCAT	A	SLC5A2	c.358_370del	NM_003041.3	NP_003032.1:p.(Ala120ArgfsTer63)	NC_000016.9:g.31497104_31497116del	(Likely) pathogenic	1 lab	a12ed8c1ae
7:117234998 CFTR T>C	7	117234998	117234998	T	C	CFTR	c.2505T>C	NM_000492.4	NP_000483.3:p.(Asp835=)	NC_000007.13:g.117234998T>C	(Likely) benign	1 lab	a12ff963a9
2:233404855 CHRNG C>T	2	233404855	233404855	C	T	CHRNG	c.195+14C>T	NM_005199.4	NP_005190.4:p.?	NC_000002.11:g.233404855C>T	(Likely) benign	1 lab	a1342b64ea
X:103041637 PLP1 G>A	X	103041637	103041637	G	A	PLP1	c.435G>A	NM_000533.4	NP_000524.3:p.(Trp145Ter)	NC_000023.10:g.103041637G>A	(Likely) pathogenic	1 lab	a136ee6ba0
4:155508663 FGA C>A	4	155508663	155508663	C	A	FGA	c.510+1G>T	NM_000508.3	NP_000499.1:p.?	NC_000004.11:g.155508663C>A	(Likely) pathogenic	1 lab	a137e8ca55
5:145719603 POU4F3 C>T	5	145719603	145719603	C	T	POU4F3	c.613C>T	NM_002700.2	NP_002691.1:p.(Gln205Ter)	NC_000005.9:g.145719603C>T	(Likely) pathogenic	1 lab	a13b58acca
13:36920918 SPART C>G	13	36920918	36920918	C	G	SPART	c.-202G>C	NM_001142295.1	NP_001135767.1:p.?	NC_000013.10:g.36920918C>G	(Likely) benign	1 lab	a13f30eb52
13:23906892 SACS GGAA>G	13	23906892	23906898	GGAA	G	SACS	c.11120_11122del	NM_014363.5	NP_055178.3:p.(Leu3707del)	NC_000013.10:g.23906896_23906898del	VUS	1 lab	a142829b3b
3:45559519 LARS2 T>C	3	45559519	45559519	T	C	LARS2	c.2169T>C	NM_015340.3	NP_056155.1:p.(Ala723=)	NC_000003.11:g.45559519T>C	(Likely) benign	1 lab	a142fdeb0d
9:98218528 PTCH1 CAA>C	9	98218528	98218531	CAA	C	PTCH1	c.3306+28_3306+29del	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98218530_98218531del	VUS	1 lab	a1441dddcf
2:31751327 SRD5A2 T>A	2	31751327	31751327	T	A	SRD5A2	c.704A>T	NM_000348.3	NP_000339.2:p.(Tyr235Phe)	NC_000002.11:g.31751327T>A	(Likely) pathogenic	1 lab	0f7729c97f
5:16675101 MYO10 G>A	5	16675101	16675101	G	A	MYO10	c.4825C>T	NM_012334.3	NP_036466.2:p.(Gln1609Ter)	NC_000005.9:g.16675101G>A	(Likely) pathogenic	1 lab	0f796fb72d
17:29549489 NF1 A>G	17	29549489	29549489	A	G	NF1				NC_000017.10:g.29549489A>G	(Likely) pathogenic	1 lab	a15488991b
11:108098435 ATM C>T	11	108098435	108098435	C	T	ATM	c.72+12C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098435C>T	(Likely) benign	1 lab	a154e9930f
16:56928475 SLC12A3 C>T	16	56928475	56928475	C	T	SLC12A3	c.2554C>T	NM_001126108.2	NP_001119580.2:p.(Arg852Cys)	NC_000016.9:g.56928475C>T	(Likely) pathogenic	1 lab	a15595c04a
20:52781091 CYP24A1 C>T	20	52781091	52781091	C	T	CYP24A1	c.744G>A	NM_000782.4	NP_000773.2:p.(Thr248=)	NC_000020.10:g.52781091C>T	(Likely) benign	1 lab	a16678d09d
3:52436306 BAP1 A>C	3	52436306	52436306	A	C	BAP1	c.2188T>G	NM_004656.4	NP_004647.1:p.(Ter730GlyextTer205)	NC_000003.11:g.52436306A>C	(Likely) pathogenic	1 lab	a156559c67
9:32984668 APTX A>G	9	32984668	32984668	A	G	APTX	c.731T>C	NM_001195249.1	NP_001182178.1:p.(Leu244Pro)	NC_000009.11:g.32984668A>G	(Likely) benign	1 lab	0f7994880e
10:70775297 KIFBP G>A	10	70775297	70775297	G	A	KIFBP	c.991G>A	NM_015634.3	NP_056449.1:p.(Asp331Asn)	NC_000010.10:g.70775297G>A	VUS	1 lab	a15b47c17e
8:144998609 PLEC C>T	8	144998609	144998609	C	T	PLEC	c.5899G>A	NM_201380.3	NP_958782.1:p.(Glu1967Lys)	NC_000008.10:g.144998609C>T	VUS	1 lab	a15bf44bc9
14:23862907 MYH6 C>G	14	23862907	23862907	C	G	MYH6	c.2896G>C	NM_002471.3	NP_002462.2:p.(Val966Leu)	NC_000014.8:g.23862907C>G	VUS	1 lab	a15c69819e
X:99663216 PCDH19 G>A	X	99663216	99663216	G	A	PCDH19	c.380C>T	NM_001184880.1	NP_001171809.1:p.(Pro127Leu)	NC_000023.10:g.99663216G>A	VUS	1 lab	a15c7e0066
14:102493959 DYNC1H1 C>T	14	102493959	102493959	C	T	DYNC1H1	c.9052C>T	NM_001376.4	NP_001367.2:p.(Pro3018Ser)	NC_000014.8:g.102493959C>T	(Likely) pathogenic	1 lab	a15e8639ca
8:10469292 RP1L1 C>T	8	10469292	10469292	C	T	RP1L1	c.2316G>A	NM_178857.5	NP_849188.4:p.(Ser772=)	NC_000008.10:g.10469292C>T	(Likely) benign	1 lab	a16212b64d
2:166237673 SCN2A C>T	2	166237673	166237673	C	T	SCN2A	c.4517C>T	NM_021007.2	NP_066287.2:p.(Ser1506Leu)	NC_000002.11:g.166237673C>T	VUS	1 lab	a1b8d3b791
3:38941459 SCN11A G>A	3	38941459	38941459	G	A	SCN11A	c.1948C>T	NM_014139.2	NP_054858.2:p.(Leu650Phe)	NC_000003.11:g.38941459G>A	(Likely) benign	1 lab	a16282b5ce
1:207958443 CD46 T>C	1	207958443	207958443	T	C	CD46	c.1055T>C	NM_002389.4	NP_002380.3:p.(Ile352Thr)	NC_000001.10:g.207958443T>C	VUS	1 lab	a162e121ac
14:76249837 TTLL5 A>T	14	76249837	76249837	A	T	TTLL5	c.2950A>T	NM_015072.4	NP_055887.3:p.(Ser984Cys)	NC_000014.8:g.76249837A>T	VUS	1 lab	a162eb4d4b
15:35082654 ACTC1 C>T	15	35082654	35082654	C	T	ACTC1	c.1093G>A	NM_005159.4	NP_005150.1:p.(Asp365Asn)	NC_000015.9:g.35082654C>T	VUS	1 lab	a16332b34f
16:89346866 ANKRD11 G>A	16	89346866	89346866	G	A	ANKRD11	c.6084C>T	NM_001256182.1	NP_001243111.1:p.(Pro2028=)	NC_000016.9:g.89346866G>A	(Likely) benign	1 lab	a16400820c
X:54492272 FGD1 G>A	X	54492272	54492272	G	A	FGD1	c.1354C>T	NM_004463.2	NP_004454.2:p.(Arg452Cys)	NC_000023.10:g.54492272G>A	VUS	1 lab	a164becc6b
7:107312690 SLC26A4 G>T	7	107312690	107312690	G	T	SLC26A4	c.412G>T	NM_000441.1	NP_000432.1:p.(Val138Phe)	NC_000007.13:g.107312690G>T	(Likely) pathogenic	1 lab	a167a338d4
1:12018692 PLOD1 C>T	1	12018692	12018692	C	T	PLOD1	c.963C>T	NM_000302.3	NP_000293.2:p.(Phe321=)	NC_000001.10:g.12018692C>T	(Likely) benign	1 lab	a16a5e5d86
3:38889233 SCN11A C>G	3	38889233	38889233	C	G	SCN11A	c.4328G>C	NM_014139.2	NP_054858.2:p.(Ser1443Thr)	NC_000003.11:g.38889233C>G	VUS	1 lab	a16a777515
4:6304043 WFS1 G>C	4	6304043	6304043	G	C	WFS1	c.2521G>C	NM_006005.3	NP_005996.2:p.(Glu841Gln)	NC_000004.11:g.6304043G>C	VUS	1 lab	a16fed6ec0
7:70252201 AUTS2 A>C	7	70252201	70252201	A	C	AUTS2	c.2315A>C	NM_015570.4	NP_056385.1:p.(Asn772Thr)	NC_000007.13:g.70252201A>C	VUS	1 lab	0a42777940
3:50385316 NPRL2 C>T	3	50385316	50385316	C	T	NPRL2	c.949G>A	NM_006545.4	NP_006536.3:p.(Gly317Arg)	NC_000003.11:g.50385316C>T	(Likely) pathogenic	1 lab	a173eff844
13:113773249 F7 A>G	13	113773249	113773249	A	G	F7	c.1328A>G	NM_000131.4	NP_000122.1:p.(Tyr443Cys)	NC_000013.10:g.113773249A>G	(Likely) pathogenic	1 lab	a175cb9aa1
11:17793350 KCNC1 C>T	11	17793350	17793350	C	T	KCNC1	c.709C>T	NM_001112741.1	NP_001106212.1:p.(Arg237Trp)	NC_000011.9:g.17793350C>T	VUS	1 lab	a17642c11d
12:86276127 NTS C>T	12	86276127	86276127	C	T	NTS				NC_000012.11:g.86276127C>T	VUS	1 lab	a239c187da
10:122630690 WDR11 G>A	10	122630690	122630690	G	A	WDR11	c.1303G>A	NM_018117.12	NP_060587.8:p.(Ala435Thr)	NC_000010.10:g.122630690G>A	(Likely) pathogenic	1 lab	a1780a7575
7:100283988 GIGYF1 G>A	7	100283988	100283988	G	A	GIGYF1	c.763C>T	NM_001375763.1	NP_001362692.1:p.(Arg255Ter)	NC_000007.13:g.100283988G>A	VUS	1 lab	a17985796b
16:89167350 ACSF3 G>C	16	89167350	89167350	G	C	ACSF3	c.261G>C	NM_174917.3	NP_777577.2:p.(Gly87=)	NC_000016.9:g.89167350G>C	(Likely) benign	1 lab	a179e4bffb
11:125853773 CDON T>C	11	125853773	125853773	T	C	CDON	c.2989A>G	NM_016952.5	NP_058648.4:p.(Ile997Val)	NC_000011.9:g.125853773T>C	VUS	1 lab	0a43cfd3e3
19:45209000 CEACAM16 G>A	19	45209000	45209000	G	A	CEACAM16	c.802G>A	NM_001039213.4	NP_001034302.2:p.(Gly268Arg)	NC_000019.9:g.45209000G>A	VUS	1 lab	a18172f1cd
16:1570616 IFT140 C>T	16	1570616	1570616	C	T	IFT140	c.3647G>A	NM_014714.4	NP_055529.2:p.(Gly1216Asp)	NC_000016.9:g.1570616C>T	VUS	1 lab	196555c873
20:45354124 SLC2A10 CCTATGCCCTCAA>C	20	45354124	45354142	CCTATGCCCTCAA	C	SLC2A10	c.456_467del	NM_030777.3	NP_110404.1:p.(Asn154_Leu157del)	NC_000020.10:g.45354131_45354142del	VUS	1 lab	a185b14ddf
1:201330406 TNNT2 C>T	1	201330406	201330406	C	T	TNNT2	c.780+1G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201330406C>T	VUS	1 lab	0f7d84b16f
5:110077775 SLC25A46 G>A	5	110077775	110077775	G	A	SLC25A46	c.311G>A	NM_138773.2	NP_620128.1:p.(Gly104Asp)	NC_000005.9:g.110077775G>A	VUS	1 lab	a186b5e9a0
10:75670996 PLAU G>A	10	75670996	75670996	G	A	PLAU	c.-32+20G>A	NM_002658.3	NP_002649.1:p.?	NC_000010.10:g.75670996G>A	(Likely) benign	1 lab	0f7da4a658
7:100228496 TFR2 T>C	7	100228496	100228496	T	C	TFR2	c.1270+16A>G	NM_003227.3	NP_003218.2:p.?	NC_000007.13:g.100228496T>C	(Likely) benign	1 lab	a18869e687
14:23884244 MYH7 A>G	14	23884244	23884244	A	G	MYH7	c.5519T>C	NM_000257.4	NP_000248.2:p.(Met1840Thr)	NC_000014.8:g.23884244A>G	VUS	1 lab	a18a170c07
7:6042199 PMS2 C>T	7	6042199	6042199	C	T	PMS2	c.422G>A	NM_000535.7	NP_000526.2:p.(Gly141Glu)	NC_000007.13:g.6042199C>T	VUS	1 lab	a18e90a124
11:121000759 TECTA A>G	11	121000759	121000759	A	G	TECTA				NC_000011.9:g.121000759A>G	VUS	1 lab	a1921cc77b
6:87965725 ZNF292 CT>C	6	87965725	87965727	CT	C	ZNF292	c.1960del	NM_001351444.2	NP_001338373.1:p.(Tyr654IlefsTer64)	NC_000006.11:g.87965727del	VUS	1 lab	0a46b9ba37
17:65971957 BPTF T>G	17	65971957	65971957	T	G	BPTF	c.8609T>G	NM_182641.4	NP_872579.2:p.(Met2870Arg)	NC_000017.10:g.65971957T>G	VUS	1 lab	a194fd97f9
3:38763831 SCN10A C>T	3	38763831	38763831	C	T	SCN10A	c.3425G>A	NM_006514.3	NP_006505.3:p.(Arg1142His)	NC_000003.11:g.38763831C>T	(Likely) pathogenic	1 lab	a196ab38d2
16:23226732 SCNN1G G>A	16	23226732	23226732	G	A	SCNN1G	c.1892G>A	NM_001039.3	NP_001030.2:p.(Arg631His)	NC_000016.9:g.23226732G>A	(Likely) benign	1 lab	a19b0c2206
17:29683996 NF1 C>G	17	29683996	29683996	C	G	NF1	c.7694C>G	NM_000267.3	NP_000258.1:p.(Ser2565Ter)	NC_000017.10:g.29683996C>G	(Likely) pathogenic	1 lab	a19b946ea3
9:95237024 ASPN CTCATCATCATCA>C	9	95237024	95237068	CTCATCATCATCA	C	ASPN	c.144_152del	NM_017680.5	NP_060150.4:p.(Asp48_Asp50del)	NC_000009.11:g.95237057_95237068del	(Likely) benign	1 lab	0a4a80391e
19:38991285 RYR1 G>A	19	38991285	38991285	G	A	RYR1	c.7363G>A	NM_000540.2	NP_000531.2:p.(Ala2455Thr)	NC_000019.9:g.38991285G>A	VUS	1 lab	a1a4e4a9a5
1:209965760 IRF6 G>A	1	209965760	209965760	G	A	IRF6	c.521C>T	NM_006147.3	NP_006138.1:p.(Ala174Val)	NC_000001.10:g.209965760G>A	VUS	1 lab	a1a517c657
11:17545000 USH1C T>C	11	17545000	17545000	T	C	USH1C	c.785A>G	NM_153676.3	NP_710142.1:p.(Asn262Ser)	NC_000011.9:g.17545000T>C	VUS	1 lab	a1a5b2483f
9:138671246 KCNT1 C>T	9	138671246	138671246	C	T	KCNT1	c.2771C>T	NM_020822.3	NP_065873.2:p.(Pro924Leu)	NC_000009.11:g.138671246C>T	(Likely) pathogenic	1 lab	a1a801c366
13:32913147 BRCA2 G>T	13	32913147	32913147	G	T	BRCA2	c.4655G>T	NM_000059.3	NP_000050.2:p.(Gly1552Val)	NC_000013.10:g.32913147G>T	(Likely) benign	1 lab	a1b289d66f
1:16256243 SPEN C>T	1	16256243	16256243	C	T	SPEN	c.3508C>T	NM_015001.3	NP_055816.2:p.(Arg1170Ter)	NC_000001.10:g.16256243C>T	(Likely) pathogenic	1 lab	a1b4269ea6
X:107924178 COL4A5 G>A	X	107924178	107924178	G	A	COL4A5	c.4079G>A	NM_033380.2	NP_203699.1:p.(Gly1360Asp)	NC_000023.10:g.107924178G>A	(Likely) pathogenic	1 lab	a1b4cbadb0
10:94409697 KIF11 T>TA	10	94409697	94409699	T	TA	KIF11	c.2878dup	NM_004523.3	NP_004514.2:p.(Met960AsnfsTer29)	NC_000010.10:g.94409699dup	(Likely) pathogenic	1 lab	a1b536affd
16:2140910 PKD1 G>T	16	2140910	2140910	G	T	PKD1	c.11978C>A	NM_001009944.2	NP_001009944.2:p.(Ser3993Ter)	NC_000016.9:g.2140910G>T	(Likely) pathogenic	1 lab	a1b565a551
7:21778402 DNAH11 G>C	7	21778402	21778402	G	C	DNAH11	c.7729G>C	NM_001277115.2	NP_001264044.1:p.(Asp2577His)	NC_000007.13:g.21778402G>C	VUS	1 lab	a1b5e5fdd9
1:201341168 TNNT2 T>G	1	201341168	201341168	T	G	TNNT2	c.54A>C	NM_001001430.2	NP_001001430.1:p.(Glu18Asp)	NC_000001.10:g.201341168T>G	VUS	1 lab	a1b99878f8
12:52200156 SCN8A G>A	12	52200156	52200156	G	A	SCN8A	c.4886G>A	NM_014191.3	NP_055006.1:p.(Arg1629His)	NC_000012.11:g.52200156G>A	(Likely) pathogenic	1 lab	a1b9c7ee1c
17:68171959 KCNJ2 G>A	17	68171959	68171959	G	A	KCNJ2				NC_000017.10:g.68171959G>A	VUS	1 lab	a1bb45e6fd
20:35555656 SAMHD1 C>T	20	35555656	35555656	C	T	SAMHD1	c.626-1G>A	NM_015474.3	NP_056289.2:p.?	NC_000020.10:g.35555656C>T	(Likely) pathogenic	1 lab	a1bb83f32e
15:89865008 POLG G>A	15	89865008	89865008	G	A	POLG	c.2557C>T	NM_002693.2	NP_002684.1:p.(Arg853Trp)	NC_000015.9:g.89865008G>A	(Likely) pathogenic	1 lab	a1bdb1efd4
19:55672494 DNAAF3 G>T	19	55672494	55672494	G	T	DNAAF3	c.1055C>A	NM_001256714.1	NP_001243643.1:p.(Ala352Asp)	NC_000019.9:g.55672494G>T	VUS	1 lab	a1be79dcbd
X:154088854 F8 C>G	X	154088854	154088854	C	G	F8	c.6753G>C	NM_000132.3	NP_000123.1:p.(Val2251=)	NC_000023.10:g.154088854C>G	(Likely) benign	1 lab	a1c677db0b
7:128475517 FLNC C>T	7	128475517	128475517	C	T	FLNC	c.490C>T	NM_001458.5	NP_001449.3:p.(Arg164Trp)	NC_000007.13:g.128475517C>T	VUS	1 lab	a1ca2b7eff
9:77357506 TRPM6 G>A	9	77357506	77357506	G	A	TRPM6	c.5171C>T	NM_017662.4	NP_060132.3:p.(Thr1724Ile)	NC_000009.11:g.77357506G>A	VUS	1 lab	a1ca6e0db0
12:115121034 TBX3 C>A	12	115121034	115121034	C	A	TBX3	c.-29G>T	NM_016569.3	NP_057653.3:p.?	NC_000012.11:g.115121034C>A	(Likely) benign	1 lab	a1cb1849ac
1:115275301 CSDE1 C>T	1	115275301	115275301	C	T	CSDE1	c.1112G>A	NM_001242891.2	NP_001229820.1:p.(Arg371His)	NC_000001.10:g.115275301C>T	VUS	1 lab	a1cbdffca1
7:97483919 ASNS C>T	7	97483919	97483919	C	T	ASNS	c.1211G>A	NM_183356.3	NP_899199.2:p.(Arg404His)	NC_000007.13:g.97483919C>T	VUS	1 lab	a1cbe88a8e
7:94259078 SGCE A>C	7	94259078	94259078	A	C	SGCE	c.185T>G	NM_003919.2	NP_003910.1:p.(Leu62Trp)	NC_000007.13:g.94259078A>C	VUS	1 lab	a1d1de0683
9:138671275 KCNT1 G>A	9	138671275	138671275	G	A	KCNT1				NC_000009.11:g.138671275G>A	(Likely) pathogenic	1 lab	a1d1e7a116
1:116287498 CASQ2 G>T	1	116287498	116287498	G	T	CASQ2	c.270C>A	NM_001232.3	NP_001223.2:p.(Gly90=)	NC_000001.10:g.116287498G>T	(Likely) benign	1 lab	a1d20ec478
8:61734662 CHD7 A>G	8	61734662	61734662	A	G	CHD7	c.2915A>G	NM_017780.4	NP_060250.2:p.(Gln972Arg)	NC_000008.10:g.61734662A>G	(Likely) pathogenic	1 lab	a1d4688a4f
11:108205658 ATM A>G	11	108205658	108205658	A	G	ATM	c.8011-38A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108205658A>G	(Likely) benign	1 lab	a1d5f64f62
9:136295232 ADAMTS13 C>T	9	136295232	136295232	C	T	ADAMTS13	c.987+11C>T	NM_139027.6	NP_620596.2:p.?	NC_000009.11:g.136295232C>T	(Likely) benign	1 lab	a1d6076842
11:68193464 LRP5 T>A	11	68193464	68193464	T	A	LRP5	c.3446T>A	NM_002335.3	NP_002326.2:p.(Leu1149Gln)	NC_000011.9:g.68193464T>A	VUS	1 lab	a1d7da149e
16:68835823 CDH1 C>T	16	68835823	68835823	C	T	CDH1	c.387+27C>T	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68835823C>T	(Likely) benign	1 lab	a1d8962ef5
2:179536815 TTN T>C	2	179536815	179536815	T	C	TTN	c.35110A>G	NM_001267550.2	NP_001254479.2:p.(Lys11704Glu)	NC_000002.11:g.179536815T>C	(Likely) benign	1 lab	a1d8d61bd8
5:135382989 TGFBI G>C	5	135382989	135382989	G	C	TGFBI	c.651G>C	NM_000358.3	NP_000349.1:p.(Leu217=)	NC_000005.9:g.135382989G>C	(Likely) benign	1 lab	0a55a3cf00
3:48625283 COL7A1 G>C	3	48625283	48625283	G	C	COL7A1	c.2800C>G	NM_000094.3	NP_000085.1:p.(Leu934Val)	NC_000003.11:g.48625283G>C	(Likely) pathogenic	1 lab	a1dcbe9554
13:23904991 SACS G>A	13	23904991	23904991	G	A	SACS	c.13024C>T	NM_014363.6	NP_055178.3:p.(Pro4342Ser)	NC_000013.10:g.23904991G>A	VUS	1 lab	a1de064c09
X:49106025 CCDC22 A>C	X	49106025	49106025	A	C	CCDC22	c.1691A>C	NM_014008.4	NP_054727.1:p.(His564Pro)	NC_000023.10:g.49106025A>C	VUS	1 lab	a1e6f32901
X:37663205 CYBB A>G	X	37663205	37663205	A	G	CYBB	c.973A>G	NM_000397.3	NP_000388.2:p.(Ile325Val)	NC_000023.10:g.37663205A>G	VUS	1 lab	a1eabd0e63
10:73570319 CDH23 G>A	10	73570319	73570319	G	A	CDH23	c.9070G>A	NM_022124.5	NP_071407.4:p.(Val3024Met)	NC_000010.10:g.73570319G>A	VUS	1 lab	a1eabe78e7
1:155254428 HCN3 C>T	1	155254428	155254428	C	T	HCN3	c.969C>T	NM_020897.2	NP_065948.1:p.(Pro323=)	NC_000001.10:g.155254428C>T	(Likely) benign	1 lab	a1ec5ff116
18:28919970 DSG1 G>C	18	28919970	28919970	G	C	DSG1	c.1669G>C	NM_001942.4	NP_001933.2:p.(Gly557Arg)	NC_000018.9:g.28919970G>C	(Likely) pathogenic	1 lab	a1ef467795
20:62075988 KCNQ2 G>GT	20	62075988	62075989	G	GT	KCNQ2	c.690+23_690+24insA	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62075988_62075989insT	VUS	1 lab	0f8452ca10
6:33406698 SYNGAP1 T>C	6	33406698	33406698	T	C	SYNGAP1	c.1676+2T>C	NM_006772.2	NP_006763.2:p.?	NC_000006.11:g.33406698T>C	(Likely) pathogenic	1 lab	a1fa4c8b96
17:70119734 SOX9 CA>C	17	70119734	70119735	CA	C	SOX9	c.737del	NM_000346.3	NP_000337.1:p.(Gln246ArgfsTer7)	NC_000017.10:g.70119735del	(Likely) pathogenic	1 lab	a1fb034e56
13:32911241 BRCA2 G>C	13	32911241	32911241	G	C	BRCA2	c.2749G>C	NM_000059.3	NP_000050.2:p.(Val917Leu)	NC_000013.10:g.32911241G>C	(Likely) benign	1 lab	a1fd6c7102
13:32973746 BRCA2 T>C	13	32973746	32973746	T	C	BRCA2	c.*839T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32973746T>C	(Likely) benign	1 lab	a1ff3f7aed
14:75567854 NEK9 G>A	14	75567854	75567854	G	A	NEK9	c.1843C>T	NM_033116.6	NP_149107.4:p.(Arg615Ter)	NC_000014.8:g.75567854G>A	(Likely) pathogenic	1 lab	a1ff4527b2
22:27021492 CRYBA4 T>C	22	27021492	27021492	T	C	CRYBA4	c.206T>C	NM_001886.3	NP_001877.1:p.(Leu69Pro)	NC_000022.10:g.27021492T>C	(Likely) pathogenic	1 lab	a1ffc1e6d5
2:168106938 XIRP2 AAC>A	2	168106938	168106943	AAC	A	XIRP2	c.9040_9041del	NM_152381.5	NP_689594.4:p.(His3014TyrfsTer2)	NC_000002.11:g.168106942_168106943del	(Likely) benign	1 lab	a2029113bb
5:112116633 APC G>A	5	112116633	112116633	G	A	APC	c.645+33G>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112116633G>A	(Likely) benign	1 lab	a2068fb0c4
19:4090709 MAP2K2 G>C	19	4090709	4090709	G	C	MAP2K2				NC_000019.9:g.4090709G>C	VUS	1 lab	a207971d3f
X:48544159 WAS G>A	X	48544159	48544159	G	A	WAS	c.397G>A	NM_000377.2	NP_000368.1:p.(Glu133Lys)	NC_000023.10:g.48544159G>A	(Likely) pathogenic	1 lab	a20874db0f
13:32945114 BRCA2 G>T	13	32945114	32945114	G	T	BRCA2	c.8509G>T	NM_000059.3	NP_000050.2:p.(Gly2837Ter)	NC_000013.10:g.32945114G>T	(Likely) pathogenic	1 lab	a2091dcc46
15:28228538 OCA2 C>A	15	28228538	28228538	C	A	OCA2	c.1456G>T	NM_000275.3	NP_000266.2:p.(Asp486Tyr)	NC_000015.9:g.28228538C>A	(Likely) pathogenic	1 lab	a20a2efe1f
3:38592060 SCN5A C>T	3	38592060	38592060	C	T	SCN5A	c.5803G>A	NM_198056.2	NP_932173.1:p.(Gly1935Ser)	NC_000003.11:g.38592060C>T	(Likely) benign	1 lab	a20af3f360
10:79741938 POLR3A G>A	10	79741938	79741938	G	A	POLR3A	c.3733C>T	NM_007055.3	NP_008986.2:p.(Arg1245Ter)	NC_000010.10:g.79741938G>A	(Likely) pathogenic	1 lab	a212035dab
16:23646511 PALB2 G>C	16	23646511	23646511	G	C	PALB2	c.1356C>G	NM_024675.3	NP_078951.2:p.(Asn452Lys)	NC_000016.9:g.23646511G>C	(Likely) benign	1 lab	a2125c7646
15:36989580 CDIN1 T>A	15	36989580	36989580	T	A	CDIN1	c.533T>A	NM_001130010.2	NP_001123482.1:p.(Leu178Gln)	NC_000015.9:g.36989580T>A	(Likely) pathogenic	1 lab	a21639052e
22:18906998 PRODH G>A	22	18906998	18906998	G	A	PRODH	c.1217C>T	NM_016335.6	NP_057419.5:p.(Pro406Leu)	NC_000022.10:g.18906998G>A	VUS	1 lab	a2181a57eb
22:38374089 SOX10 C>T	22	38374089	38374089	C	T	SOX10	c.482G>A	NM_006941.3	NP_008872.1:p.(Arg161His)	NC_000022.10:g.38374089C>T	(Likely) pathogenic	1 lab	a218b90165
2:166018813 SCN3A C>T	2	166018813	166018813	C	T	SCN3A	c.1031+5G>A	NM_006922.3	NP_008853.3:p.?	NC_000002.11:g.166018813C>T	VUS	1 lab	a2198710cc
1:216371702 USH2A C>T	1	216371702	216371702	C	T	USH2A				NC_000001.10:g.216371702C>T	VUS	1 lab	b03c2cc1ad
15:35082763 ACTC1 AAAG>A	15	35082763	35082768	AAAG	A	ACTC1	c.991-10_991-8del	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35082766_35082768del	(Likely) benign	1 lab	a21b1b82b3
9:98240430 PTCH1 CTTTT>C	9	98240430	98240434	CTTTT	C	PTCH1	c.1250_1253del	NM_000264.5	NP_000255.2:p.(Gln417ArgfsTer14)	NC_000009.11:g.98240431_98240434del	(Likely) pathogenic	1 lab	a21b8d3ba9
3:4856798 ITPR1 T>C	3	4856798	4856798	T	C	ITPR1	c.7718T>C	NM_001168272.1	NP_001161744.1:p.(Ile2573Thr)	NC_000003.11:g.4856798T>C	(Likely) pathogenic	1 lab	a21c41b484
2:1921003 MYT1L G>A	2	1921003	1921003	G	A	MYT1L	c.1592C>T	NM_001303052.2	NP_001289981.1:p.(Pro531Leu)	NC_000002.11:g.1921003G>A	(Likely) pathogenic	1 lab	a21d6d79fd
17:42961061 EFTUD2 GCT>G	17	42961061	42961065	GCT	G	EFTUD2				NC_000017.10:g.42961064_42961065del	(Likely) pathogenic	1 lab	a21eabf407
7:117423007 CTTNBP2 TCA>T	7	117423007	117423013	TCA	T	CTTNBP2				NC_000007.13:g.117423012_117423013del	(Likely) pathogenic	1 lab	a2261b2938
2:242573336 THAP4 G>A	2	242573336	242573336	G	A	THAP4	c.236C>T	NM_015963.5	NP_057047.4:p.(Thr79Met)	NC_000002.11:g.242573336G>A	VUS	1 lab	a2263c4153
2:179538445 TTN G>T	2	179538445	179538445	G	T	TTN	c.34709-8C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179538445G>T	(Likely) benign	1 lab	a226b22154
1:21890587 ALPL G>A	1	21890587	21890587	G	A	ALPL	c.526G>A	NM_000478.6	NP_000469.3:p.(Ala176Thr)	NC_000001.10:g.21890587G>A	(Likely) pathogenic	1 lab	a22b573e76
11:47360077 MYBPC3 C>A	11	47360077	47360077	C	A	MYBPC3	c.2302G>T	NM_000256.3	NP_000247.2:p.(Val768Phe)	NC_000011.9:g.47360077C>A	VUS	1 lab	a22c0cea5e
7:21781687 DNAH11 C>A	7	21781687	21781687	C	A	DNAH11				NC_000007.13:g.21781687C>A	VUS	1 lab	a22c98f7d5
5:71492498 MAP1B C>T	5	71492498	71492498	C	T	MAP1B	c.3316C>T	NM_005909.5	NP_005900.2:p.(Arg1106Ter)	NC_000005.9:g.71492498C>T	(Likely) pathogenic	1 lab	a22f8a3e7c
17:78166423 CARD14 G>A	17	78166423	78166423	G	A	CARD14	c.1356+5G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78166423G>A	(Likely) benign	1 lab	0a5cfaf9e6
6:38867683 DNAH8 G>A	6	38867683	38867683	G	A	DNAH8	c.9194+1G>A	NM_001206927.2	NP_001193856.1:p.?	NC_000006.11:g.38867683G>A	(Likely) pathogenic	1 lab	a232735110
17:41243686 BRCA1 CCTCA>C	17	41243686	41243692	CCTCA	C	BRCA1	c.3858_3861del	NM_007294.4	NP_009225.1:p.(Ser1286ArgfsTer20)	NC_000017.10:g.41243689_41243692del	(Likely) pathogenic	1 lab	a23533e2ba
11:108200003 ATM C>T	11	108200003	108200003	C	T	ATM	c.7307+38C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108200003C>T	(Likely) benign	1 lab	a23560a94b
2:179528585 TTN A>C	2	179528585	179528585	A	C	TTN	c.36409T>G	NM_001267550.2	NP_001254479.2:p.(Leu12137Val)	NC_000002.11:g.179528585A>C	(Likely) benign	1 lab	a23657af75
2:179579207 TTN A>G	2	179579207	179579207	A	G	TTN	c.26294T>C	NM_001267550.2	NP_001254479.2:p.(Ile8765Thr)	NC_000002.11:g.179579207A>G	VUS	1 lab	a23725ca89
2:47656880 MSH2 G>T	2	47656880	47656880	G	T	MSH2	c.1077-1G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47656880G>T	(Likely) pathogenic	1 lab	a2374793c3
5:142680344 NR3C1 C>A	5	142680344	142680344	C	A	NR3C1	c.1469-16G>T	NM_000176.2	NP_000167.1:p.?	NC_000005.9:g.142680344C>A	(Likely) benign	1 lab	a239076682
12:116429060 MED13L G>T	12	116429060	116429060	G	T	MED13L	c.3699C>A	NM_015335.4	NP_056150.1:p.(His1233Gln)	NC_000012.11:g.116429060G>T	VUS	1 lab	a23ce687d1
7:87041225 ABCB4 A>G	7	87041225	87041225	A	G	ABCB4	c.2908T>C	NM_018849.2	NP_061337.1:p.(Phe970Leu)	NC_000007.13:g.87041225A>G	VUS	1 lab	a23f82e00c
12:48393747 COL2A1 C>T	12	48393747	48393747	C	T	COL2A1	c.247G>A	NM_001844.5	NP_001835.3:p.(Gly83Arg)	NC_000012.11:g.48393747C>T	VUS	1 lab	a23fc35910
16:2139919 PKD1 G>A	16	2139919	2139919	G	A	PKD1	c.12718C>T	NM_000296.3	NP_000287.3:p.(Gln4240Ter)	NC_000016.9:g.2139919G>A	(Likely) pathogenic	1 lab	a24301ff02
7:92129143 PEX1 A>AT	7	92129143	92129145	A	AT	PEX1	c.2592dup	NM_000466.3	NP_000457.1:p.(Leu865IlefsTer35)	NC_000007.13:g.92129145dup	(Likely) pathogenic	1 lab	a2436530bb
X:128944967 ZDHHC9 G>A	X	128944967	128944967	G	A	ZDHHC9	c.892C>T	NM_016032.3	NP_057116.2:p.(Arg298Ter)	NC_000023.10:g.128944967G>A	(Likely) pathogenic	1 lab	a243a0bda8
1:11907269 NPPA C>T	1	11907269	11907269	C	T	NPPA	c.351G>A	NM_006172.3	NP_006163.1:p.(Ala117=)	NC_000001.10:g.11907269C>T	(Likely) benign	1 lab	a243cf2b2b
2:71185243 ATP6V1B1 T>C	2	71185243	71185243	T	C	ATP6V1B1	c.242T>C	NM_001692.3	NP_001683.2:p.(Leu81Pro)	NC_000002.11:g.71185243T>C	(Likely) pathogenic	1 lab	a246064198
21:35742750 KCNE2 A>G	21	35742750	35742750	A	G	KCNE2	c.-12-16A>G	NM_172201.1	NP_751951.1:p.?	NC_000021.8:g.35742750A>G	(Likely) benign	1 lab	a246b33b72
19:10904505 DNM2 G>A	19	10904505	10904505	G	A	DNM2	c.1102G>A	NM_001005360.2	NP_001005360.1:p.(Glu368Lys)	NC_000019.9:g.10904505G>A	(Likely) pathogenic	1 lab	a24b0b0407
1:68905294 RPE65 G>T	1	68905294	68905294	G	T	RPE65	c.675C>A	NM_000329.3	NP_000320.1:p.(Ile225=)	NC_000001.10:g.68905294G>T	(Likely) pathogenic	1 lab	a24ca63689
7:21826350 DNAH11 C>T	7	21826350	21826350	C	T	DNAH11	c.9706C>T	NM_001277115.2	NP_001264044.1:p.(Arg3236Ter)	NC_000007.13:g.21826350C>T	(Likely) pathogenic	1 lab	a24ca69dba
6:1610955 FOXC1 A>C	6	1610955	1610955	A	C	FOXC1	c.275A>C	NM_001453.3	NP_001444.2:p.(Gln92Pro)	NC_000006.11:g.1610955A>C	(Likely) pathogenic	1 lab	a24f31ffc3
X:53267330 IQSEC2 C>G	X	53267330	53267330	C	G	IQSEC2				NC_000023.10:g.53267330C>G	(Likely) benign	1 lab	a24ff97c96
15:28261319 OCA2 CAG>C	15	28261319	28261321	CAG	C	OCA2	c.819_820del	NM_000275.3	NP_000266.2:p.(Asn273LysfsTer20)	NC_000015.9:g.28261320_28261321del	(Likely) pathogenic	1 lab	0a624b77a5
7:99703604 TAF6 C>T	7	99703604	99703604	C	T	TAF6				NC_000007.13:g.99703604C>T	(Likely) pathogenic	1 lab	a32a701cda
1:197404214 CRB1 T>C	1	197404214	197404214	T	C	CRB1	c.3221T>C	NM_201253.2	NP_957705.1:p.(Leu1074Ser)	NC_000001.10:g.197404214T>C	VUS	1 lab	a250706483
14:21794213 RPGRIP1 A>G	14	21794213	21794213	A	G	RPGRIP1	c.2591A>G	NM_020366.3	NP_065099.3:p.(Tyr864Cys)	NC_000014.8:g.21794213A>G	VUS	1 lab	a2507130f5
15:93557954 CHD2 G>C	15	93557954	93557954	G	C	CHD2	c.4721G>C	NM_001271.4	NP_001262.3:p.(Gly1574Ala)	NC_000015.9:g.93557954G>C	(Likely) benign	1 lab	0f8afe25e1
17:42333075 SLC4A1 C>A	17	42333075	42333075	C	A	SLC4A1	c.1766G>T	NM_000342.3	NP_000333.1:p.(Arg589Leu)	NC_000017.10:g.42333075C>A	VUS	1 lab	a252945f07
3:53764495 CACNA1D A>G	3	53764495	53764495	A	G	CACNA1D				NC_000003.11:g.53764495A>G	VUS	1 lab	a254428538
X:585265 SHOX T>C	X	585265	585265	T	C	SHOX	c.-505T>C	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585265T>C	(Likely) benign	1 lab	a25a04a383
11:108160435 ATM T>G	11	108160435	108160435	T	G	ATM	c.4343T>G	NM_000051.3	NP_000042.3:p.(Leu1448Ter)	NC_000011.9:g.108160435T>G	(Likely) pathogenic	1 lab	a25e5ad7a6
4:187130106 CYP4V2 C>T	4	187130106	187130106	C	T	CYP4V2	c.1178C>T	NM_207352.3	NP_997235.3:p.(Pro393Leu)	NC_000004.11:g.187130106C>T	VUS	1 lab	a25f103151
2:47703711 MSH2 G>A	2	47703711	47703711	G	A	MSH2	c.2210+1G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47703711G>A	(Likely) pathogenic	1 lab	a26005adb5
7:117171145 CFTR A>G	7	117171145	117171145	A	G	CFTR	c.466A>G	NM_000492.4	NP_000483.3:p.(Met156Val)	NC_000007.13:g.117171145A>G	VUS	1 lab	a262df4c40
2:179659785 TTN A>T	2	179659785	179659785	A	T	TTN	c.1109T>A	NM_001267550.1	NP_001254479.1:p.(Ile370Asn)	NC_000002.11:g.179659785A>T	VUS	1 lab	a26b0cfa4f
1:156107617 LMNA G>A	1	156107617	156107617	G	A	LMNA	c.1698+83G>A	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156107617G>A	(Likely) benign	1 lab	a26d3c190e
3:184071049 CLCN2 C>A	3	184071049	184071049	C	A	CLCN2	c.2017G>T	NM_004366.6	NP_004357.3:p.(Val673Phe)	NC_000003.11:g.184071049C>A	VUS	1 lab	0a70a3ef60
10:98173011 TLL2 C>A	10	98173011	98173011	C	A	TLL2	c.986G>T	NM_012465.3	NP_036597.1:p.(Gly329Val)	NC_000010.10:g.98173011C>A	VUS	1 lab	a272436b13
7:65551627 ASL C>T	7	65551627	65551627	C	T	ASL	c.502C>T	NM_000048.3	NP_000039.2:p.(Arg168Cys)	NC_000007.13:g.65551627C>T	VUS	1 lab	a275ce23d1
20:10625818 JAG1 C>T	20	10625818	10625818	C	T	JAG1	c.2200G>A	NM_000214.3	NP_000205.1:p.(Gly734Ser)	NC_000020.10:g.10625818C>T	VUS	1 lab	0a731eec31
9:103035300 INVS C>T	9	103035300	103035300	C	T	INVS	c.1726C>T	NM_014425.5	NP_055240.2:p.(Arg576Ter)	NC_000009.11:g.103035300C>T	(Likely) pathogenic	1 lab	a27e97c3f7
1:201330366 TNNT2 G>C	1	201330366	201330366	G	C	TNNT2	c.780+41C>G	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201330366G>C	(Likely) benign	1 lab	a286458e9c
15:43513074 EPB42 A>G	15	43513074	43513074	A	G	EPB42	c.-51T>C	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43513074A>G	(Likely) benign	1 lab	107f4f67ea
X:103041611 PLP1 C>G	X	103041611	103041611	C	G	PLP1	c.409C>G	NM_001128834.2	NP_001122306.1:p.(Arg137Gly)	NC_000023.10:g.103041611C>G	(Likely) pathogenic	1 lab	a28678eb3b
11:1475821 BRSK2 G>A	11	1475821	1475821	G	A	BRSK2	c.1651G>A	NM_001256627.2	NP_001243556.1:p.(Val551Met)	NC_000011.9:g.1475821G>A	VUS	1 lab	0a754fa9a4
3:151154490 IGSF10 A>C	3	151154490	151154490	A	C	IGSF10	c.7859T>G	NM_178822.5	NP_849144.2:p.(Ile2620Ser)	NC_000003.11:g.151154490A>C	VUS	1 lab	a288a65502
19:54410004 PRKCG C>T	19	54410004	54410004	C	T	PRKCG	c.1949C>T	NM_002739.5	NP_002730.1:p.(Ala650Val)	NC_000019.9:g.54410004C>T	VUS	1 lab	0a782d5dd9
17:39742894 KRT14 G>A	17	39742894	39742894	G	A	KRT14	c.193C>T	NM_000526.5	NP_000517.3:p.(Leu65=)	NC_000017.10:g.39742894G>A	(Likely) benign	1 lab	0a79eba134
11:123516405 SCN3B G>A	11	123516405	123516405	G	A	SCN3B	c.109C>T	NM_018400.3	NP_060870.1:p.(Gln37Ter)	NC_000011.9:g.123516405G>A	VUS	1 lab	a28d45ca62
5:112173819 APC GT>G	5	112173819	112173821	GT	G	APC	c.2530del	NM_000038.6	NP_000029.2:p.(Ser844LeufsTer17)	NC_000005.9:g.112173821del	(Likely) pathogenic	1 lab	a28f1c05ad
17:78163630 CARD14 C>T	17	78163630	78163630	C	T	CARD14	c.922C>T	NM_024110.4	NP_077015.2:p.(Leu308=)	NC_000017.10:g.78163630C>T	(Likely) benign	1 lab	0f8fdeed0a
14:105415171 AHNAK2 A>G	14	105415171	105415171	A	G	AHNAK2	c.6617T>C	NM_138420.4	NP_612429.2:p.(Leu2206Pro)	NC_000014.8:g.105415171A>G	(Likely) benign	1 lab	a291e94ec4
2:48018095 MSH6 G>A	2	48018095	48018095	G	A	MSH6	c.290G>A	NM_000179.2	NP_000170.1:p.(Trp97Ter)	NC_000002.11:g.48018095G>A	(Likely) pathogenic	1 lab	a297a84eea
1:215901443 USH2A G>A	1	215901443	215901443	G	A	USH2A	c.11995C>T	NM_206933.4	NP_996816.3:p.(Arg3999Cys)	NC_000001.10:g.215901443G>A	VUS	1 lab	a298048a3c
16:67650737 CTCF G>A	16	67650737	67650737	G	A	CTCF	c.1042G>A	NM_006565.4	NP_006556.1:p.(Glu348Lys)	NC_000016.9:g.67650737G>A	VUS	1 lab	a29f61c576
2:167334060 SCN7A CT>C	2	167334060	167334065	CT	C	SCN7A	c.146del	NM_002976.3	NP_002967.2:p.(Lys49SerfsTer33)	NC_000002.11:g.167334065del	VUS	1 lab	a2a32ea2b1
2:32341244 SPAST T>A	2	32341244	32341244	T	A	SPAST	c.1061T>A	NM_014946.4	NP_055761.2:p.(Leu354Ter)	NC_000002.11:g.32341244T>A	(Likely) pathogenic	1 lab	a2a3e78ec9
9:103055234 INVS C>T	9	103055234	103055234	C	T	INVS	c.2695C>T	NM_014425.5	NP_055240.2:p.(Arg899Ter)	NC_000009.11:g.103055234C>T	(Likely) pathogenic	1 lab	a2a4cf398a
20:33589236 MYH7B C>T	20	33589236	33589236	C	T	MYH7B	c.5709C>T	NM_020884.4	NP_065935.3:p.(Ala1903=)	NC_000020.10:g.33589236C>T	(Likely) benign	1 lab	a2a813dd4b
7:19156668 TWIST1 T>TGCCGCCGCCGCCGCCCGC	7	19156668	19156701	T	TGCCGCCGCCGCCGCCCGC	TWIST1	c.259_276dup	NM_000474.3	NP_000465.1:p.(Ala87_Gly92dup)	NC_000007.13:g.19156684_19156701dup	VUS	1 lab	a2a9189299
14:31346897 COCH G>C	14	31346897	31346897	G	C	COCH	c.202G>C	NM_004086.2	NP_004077.1:p.(Ala68Pro)	NC_000014.8:g.31346897G>C	(Likely) pathogenic	1 lab	a2abe8f99a
X:85282494 CHM C>T	X	85282494	85282494	C	T	CHM	c.116+1G>A	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85282494C>T	(Likely) pathogenic	1 lab	a2acec18d1
2:179588987 TTN C>G	2	179588987	179588987	C	G	TTN	c.21115G>C	NM_001267550.2	NP_001254479.2:p.(Asp7039His)	NC_000002.11:g.179588987C>G	VUS	1 lab	a2ae5553a3
9:139324292 INPP5E C>T	9	139324292	139324292	C	T	INPP5E	c.1803-33G>A	NM_019892.6	NP_063945.2:p.?	NC_000009.11:g.139324292C>T	(Likely) benign	1 lab	0f925b76ae
7:131895754 PLXNA4 C>T	7	131895754	131895754	C	T	PLXNA4	c.2246G>A	NM_020911.1	NP_065962.1:p.(Arg749Gln)	NC_000007.13:g.131895754C>T	VUS	1 lab	a2b17e2e97
11:101375176 TRPC6 C>T	11	101375176	101375176	C	T	TRPC6	c.524G>A	NM_004621.5	NP_004612.2:p.(Arg175Gln)	NC_000011.9:g.101375176C>T	(Likely) pathogenic	1 lab	a2b19f42bc
3:71247489 FOXP1 G>A	3	71247489	71247489	G	A	FOXP1	c.44C>T	NM_032682.6	NP_116071.2:p.(Ala15Val)	NC_000003.11:g.71247489G>A	(Likely) benign	1 lab	0a7cbbbba9
17:59878688 BRIP1 G>A	17	59878688	59878688	G	A	BRIP1	c.1066C>T	NM_032043.3	NP_114432.2:p.(Arg356Ter)	NC_000017.10:g.59878688G>A	(Likely) pathogenic	1 lab	a2b925e8ce
X:46712984 RP2 G>GA	X	46712984	46712985	G	GA	RP2	c.177dup	NM_006915.2	NP_008846.2:p.(Gln60ThrfsTer9)	NC_000023.10:g.46712985dup	(Likely) pathogenic	1 lab	a2b95ffa43
9:139413269 NOTCH1 G>A	9	139413269	139413269	G	A	NOTCH1	c.873C>T	NM_017617.3	NP_060087.3:p.(Tyr291=)	NC_000009.11:g.139413269G>A	(Likely) benign	1 lab	a2bd84e9fb
14:23889344 MYH7 T>C	14	23889344	23889344	T	C	MYH7	c.3436A>G	NM_000257.2	NP_000248.2:p.(Ile1146Val)	NC_000014.8:g.23889344T>C	VUS	1 lab	a2bec7603a
14:95559044 DICER1 T>C	14	95559044	95559044	T	C	DICER1	c.5364+1181A>G	NM_177438.2	NP_803187.1:p.?	NC_000014.8:g.95559044T>C	(Likely) pathogenic	1 lab	a2c1d29ddb
X:153009196 ABCD1 C>T	X	153009196	153009196	C	T	ABCD1	c.*7C>T	NM_000033.3	NP_000024.2:p.?	NC_000023.10:g.153009196C>T	(Likely) benign	1 lab	a2c58de86f
6:116442567 COL10A1 C>G	6	116442567	116442567	C	G	COL10A1	c.712G>C	NM_000493.4	NP_000484.2:p.(Gly238Arg)	NC_000006.11:g.116442567C>G	VUS	1 lab	a2c6409951
20:10622430 JAG1 C>G	20	10622430	10622430	C	G	JAG1	c.2682+1G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10622430C>G	(Likely) pathogenic	1 lab	a2c6d27069
2:179472649 TTN T>C	2	179472649	179472649	T	C	TTN	c.52865A>G	NM_001267550.2	NP_001254479.2:p.(Lys17622Arg)	NC_000002.11:g.179472649T>C	(Likely) benign	1 lab	a2c85e201e
1:237777970 RYR2 C>T	1	237777970	237777970	C	T	RYR2	c.5542C>T	NM_001035.2	NP_001026.2:p.(Pro1848Ser)	NC_000001.10:g.237777970C>T	VUS	1 lab	a2c8f7b945
17:41249323 BRCA1 C>T	17	41249323	41249323	C	T	BRCA1	c.548-17G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249323C>T	VUS	1 lab	a2cb7f29b9
7:128495343 FLNC G>A	7	128495343	128495343	G	A	FLNC	c.7226G>A	NM_001458.5	NP_001449.3:p.(Arg2409His)	NC_000007.13:g.128495343G>A	VUS	1 lab	0a7ec8b018
X:70352617 MED12 CCTCTTCTCTT>C	X	70352617	70352679	CCTCTTCTCTT	C	MED12	c.4416-25_4416-16del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352670_70352679del	(Likely) benign	1 lab	0a820d56e2
19:35524453 SCN1B C>T	19	35524453	35524453	C	T	SCN1B	c.258C>T	NM_001037.4	NP_001028.1:p.(Phe86=)	NC_000019.9:g.35524453C>T	(Likely) benign	1 lab	a2ce93eb7a
13:32971209 BRCA2 T>C	13	32971209	32971209	T	C	BRCA2	c.9648+28T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971209T>C	(Likely) benign	1 lab	a2d0925d97
4:114290875 ANK2 C>T	4	114290875	114290875	C	T	ANK2	c.11524C>T	NM_001148.5	NP_001139.3:p.(Arg3842Trp)	NC_000004.11:g.114290875C>T	(Likely) benign	1 lab	a2d1949819
X:31676173 DMD T>C	X	31676173	31676173	T	C	DMD	c.7961A>G	NM_004006.3	NP_003997.2:p.(Asp2654Gly)	NC_000023.10:g.31676173T>C	VUS	1 lab	a2d1a83472
X:70351982 MED12 A>C	X	70351982	70351982	A	C	MED12	c.4179A>C	NM_005120.3	NP_005111.2:p.(Ser1393=)	NC_000023.10:g.70351982A>C	(Likely) benign	1 lab	38d31b3e4c
10:95168666 MYOF C>T	10	95168666	95168666	C	T	MYOF	c.607G>A	NM_013451.4	NP_038479.1:p.(Val203Ile)	NC_000010.10:g.95168666C>T	VUS	1 lab	0a827f46ae
17:40370182 STAT5B C>T	17	40370182	40370182	C	T	STAT5B	c.1156G>A	NM_012448.3	NP_036580.2:p.(Glu386Lys)	NC_000017.10:g.40370182C>T	VUS	1 lab	a2d7712f80
14:75558059 NEK9 G>A	14	75558059	75558059	G	A	NEK9	c.2356C>T	NM_033116.6	NP_149107.4:p.(Arg786Ter)	NC_000014.8:g.75558059G>A	(Likely) pathogenic	1 lab	a2da49e738
12:125449106 DHX37 G>A	12	125449106	125449106	G	A	DHX37	c.1879C>T	NM_032656.4	NP_116045.2:p.(Leu627Phe)	NC_000012.11:g.125449106G>A	VUS	1 lab	a2dc6ba415
2:241537402 CAPN10 G>A	2	241537402	241537402	G	A	CAPN10	c.1841G>A	NM_023083.4	NP_075571.2:p.(Arg614Gln)	NC_000002.11:g.241537402G>A	VUS	1 lab	0a8a06b012
12:52082624 SCN8A G>C	12	52082624	52082624	G	C	SCN8A	c.697G>C	NM_014191.3	NP_055006.1:p.(Val233Leu)	NC_000012.11:g.52082624G>C	(Likely) pathogenic	1 lab	a2deffda9f
X:48649735 GATA1 A>G	X	48649735	48649735	A	G	GATA1	c.219A>G	NM_002049.3	NP_002040.1:p.(Pro73=)	NC_000023.10:g.48649735A>G	(Likely) benign	1 lab	a2e11b8483
X:41203376 DDX3X A>G	X	41203376	41203376	A	G	DDX3X	c.859A>G	NM_001356.5	NP_001347.3:p.(Arg287Gly)	NC_000023.10:g.41203376A>G	(Likely) benign	1 lab	a2e326195f
X:38268240 OTC C>T	X	38268240	38268240	C	T	OTC	c.829C>T	NM_000531.5	NP_000522.3:p.(Arg277Trp)	NC_000023.10:g.38268240C>T	(Likely) pathogenic	1 lab	a2e3932a22
11:19209769 CSRP3 T>A	11	19209769	19209769	T	A	CSRP3	c.195A>T	NM_003476.4	NP_003467.1:p.(Arg65Ser)	NC_000011.9:g.19209769T>A	VUS	1 lab	a2e6a91507
7:106509881 PIK3CG G>T	7	106509881	106509881	G	T	PIK3CG	c.1875G>T	NM_002649.3	NP_002640.2:p.(Gly625=)	NC_000007.13:g.106509881G>T	(Likely) benign	1 lab	0f9bad637a
11:103107266 DYNC2H1 C>T	11	103107266	103107266	C	T	DYNC2H1	c.9817C>T	NM_001080463.1	NP_001073932.1:p.(Gln3273Ter)	NC_000011.9:g.103107266C>T	(Likely) pathogenic	1 lab	a2ee6e02ca
3:25679659 TOP2B T>C	3	25679659	25679659	T	C	TOP2B	c.538A>G	NM_001330700.2	NP_001317629.1:p.(Thr180Ala)	NC_000003.11:g.25679659T>C	VUS	1 lab	a2ef56c452
2:220283588 DES C>G	2	220283588	220283588	C	G	DES	c.404C>G	NM_001927.4	NP_001918.3:p.(Ala135Gly)	NC_000002.11:g.220283588C>G	VUS	1 lab	a2f15c565e
17:68172260 KCNJ2 C>T	17	68172260	68172260	C	T	KCNJ2	c.1080C>T	NM_000891.2	NP_000882.1:p.(Asp360=)	NC_000017.10:g.68172260C>T	(Likely) benign	1 lab	a2f1a80553
18:44139461 LOXHD1 C>T	18	44139461	44139461	C	T	LOXHD1	c.3166G>A	NM_144612.6	NP_653213.6:p.(Glu1056Lys)	NC_000018.9:g.44139461C>T	VUS	1 lab	a2f2712ac9
4:151773618 LRBA T>C	4	151773618	151773618	T	C	LRBA	c.3244A>G	NM_001199282.2	NP_001186211.2:p.(Ile1082Val)	NC_000004.11:g.151773618T>C	VUS	1 lab	a2f3e86314
5:149777994 TCOF1 CAGAAGAAAA>C	5	149777994	149778014	CAGAAGAAAA	C	TCOF1	c.4432_4440del	NM_001135243.2	NP_001128715.1:p.(Lys1480_Lys1482del)	NC_000005.9:g.149778006_149778014del	VUS	1 lab	0a8f0ed562
3:190106074 CLDN16 G>C	3	190106074	190106074	G	C	CLDN16	c.166G>C	NM_006580.3	NP_006571.1:p.(Ala56Pro)	NC_000003.11:g.190106074G>C	(Likely) benign	1 lab	0f9e386c0e
19:6680150 C3 C>T	19	6680150	6680150	C	T	C3	c.4456+19G>A	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6680150C>T	(Likely) benign	1 lab	a2fba70a38
11:118896430 SLC37A4 G>A	11	118896430	118896430	G	A	SLC37A4	c.984+247C>T	NM_001164277.2	NP_001157749.1:p.?	NC_000011.9:g.118896430G>A	(Likely) benign	1 lab	a2fcbd9ca8
12:8995849 A2ML1 C>T	12	8995849	8995849	C	T	A2ML1	c.1368C>T	NM_144670.5	NP_653271.2:p.(His456=)	NC_000012.11:g.8995849C>T	(Likely) benign	1 lab	a2ffffa3ba
2:179459116 TTN T>C	2	179459116	179459116	T	C	TTN	c.58105A>G	NM_001267550.2	NP_001254479.2:p.(Lys19369Glu)	NC_000002.11:g.179459116T>C	VUS	1 lab	a3051d80e4
1:94528272 ABCA4 C>A	1	94528272	94528272	C	A	ABCA4				NC_000001.10:g.94528272C>A	(Likely) pathogenic	1 lab	ba24d4ad77
1:236881201 ACTN2 C>G	1	236881201	236881201	C	G	ACTN2	c.170C>G	NM_001103.3	NP_001094.1:p.(Thr57Ser)	NC_000001.10:g.236881201C>G	VUS	1 lab	a306f8c999
5:1294751 TERT C>T	5	1294751	1294751	C	T	TERT	c.250G>A	NM_198253.2	NP_937983.2:p.(Val84Met)	NC_000005.9:g.1294751C>T	(Likely) benign	1 lab	a307773493
6:32825090 PSMB9 G>A	6	32825090	32825090	G	A	PSMB9	c.179G>A	NM_002800.5	NP_002791.1:p.(Arg60His)	NC_000006.11:g.32825090G>A	(Likely) benign	1 lab	0a91924f36
21:47535933 COL6A2 G>A	21	47535933	47535933	G	A	COL6A2	c.866G>A	NM_001849.3	NP_001840.3:p.(Gly289Asp)	NC_000021.8:g.47535933G>A	VUS	1 lab	a3095ba4c3
6:157528801 ARID1B CA>C	6	157528801	157528802	CA	C	ARID1B	c.6527del	NM_020732.3	NP_065783.3:p.(Gln2176ArgfsTer17)	NC_000006.11:g.157528802del	(Likely) pathogenic	1 lab	a30cdf3ae0
15:73615781 HCN4 C>G	15	73615781	73615781	C	G	HCN4	c.2653G>C	NM_005477.2	NP_005468.1:p.(Gly885Arg)	NC_000015.9:g.73615781C>G	(Likely) benign	1 lab	a30dcbad7e
20:47864983 ZNFX1 G>C	20	47864983	47864983	G	C	ZNFX1	c.4578C>G	NM_021035.3	NP_066363.1:p.(Leu1526=)	NC_000020.10:g.47864983G>C	(Likely) benign	1 lab	0f9e7822c9
16:2165630 PKD1 T>C	16	2165630	2165630	T	C	PKD1	c.1850-4A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2165630T>C	(Likely) benign	1 lab	a30fbc6e72
7:33136968 RP9 C>T	7	33136968	33136968	C	T	RP9	c.320G>A	NM_203288.1	NP_976033.1:p.(Arg107His)	NC_000007.13:g.33136968C>T	VUS	1 lab	a31054ec41
17:16852207 TNFRSF13B G>C	17	16852207	16852207	G	C	TNFRSF13B	c.290C>G	NM_012452.2	NP_036584.1:p.(Pro97Arg)	NC_000017.10:g.16852207G>C	VUS	1 lab	a3114d66f0
17:39923673 JUP G>C	17	39923673	39923673	G	C	JUP	c.867C>G	NM_002230.2	NP_002221.1:p.(Thr289=)	NC_000017.10:g.39923673G>C	(Likely) benign	1 lab	a66f531a48
22:29095865 CHEK2 G>C	22	29095865	29095865	G	C	CHEK2	c.969C>G	NM_007194.3	NP_009125.1:p.(Thr323=)	NC_000022.10:g.29095865G>C	(Likely) benign	1 lab	a327115f5b
2:167288968 SCN7A C>A	2	167288968	167288968	C	A	SCN7A	c.2452G>T	NM_002976.3	NP_002967.2:p.(Ala818Ser)	NC_000002.11:g.167288968C>A	(Likely) benign	1 lab	a31295c77c
1:210971032 KCNH1 T>A	1	210971032	210971032	T	A	KCNH1				NC_000001.10:g.210971032T>A	(Likely) benign	1 lab	a3130dc618
10:76790556 KAT6B A>G	10	76790556	76790556	A	G	KAT6B	c.5974A>G	NM_012330.4	NP_036462.2:p.(Met1992Val)	NC_000010.10:g.76790556A>G	VUS	1 lab	a314efdac8
19:40872714 PLD3 C>T	19	40872714	40872714	C	T	PLD3	c.137C>T	NM_012268.4	NP_036400.2:p.(Ala46Val)	NC_000019.9:g.40872714C>T	(Likely) benign	1 lab	a315a245ca
7:6035206 PMS2 G>A	7	6035206	6035206	G	A	PMS2	c.862C>T	NM_000535.7	NP_000526.2:p.(Gln288Ter)	NC_000007.13:g.6035206G>A	(Likely) pathogenic	1 lab	a315c29850
1:74936092 TNNI3K C>T	1	74936092	74936092	C	T	TNNI3K	c.2121+6858C>T	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74936092C>T	(Likely) benign	1 lab	a3165fc35d
X:76944338 ATRX G>C	X	76944338	76944338	G	C	ATRX	c.567C>G	NM_000489.3	NP_000480.2:p.(His189Gln)	NC_000023.10:g.76944338G>C	(Likely) pathogenic	1 lab	a31b8c0d0f
1:167791250 ADCY10 A>C	1	167791250	167791250	A	C	ADCY10	c.4286+12T>G	NM_018417.6	NP_060887.2:p.?	NC_000001.10:g.167791250A>C	(Likely) benign	1 lab	0fab6915ec
5:112175852 APC G>T	5	112175852	112175852	G	T	APC	c.4561G>T	NM_000038.5	NP_000029.2:p.(Glu1521Ter)	NC_000005.9:g.112175852G>T	(Likely) pathogenic	1 lab	a3213a118c
1:26126722 SELENON A>G	1	26126722	26126722	A	G	SELENON	c.1A>G	NM_020451.2	NP_065184.2:p.(Met1?)	NC_000001.10:g.26126722A>G	(Likely) pathogenic	1 lab	a3214c9b57
3:37058995 MLH1 A>G	3	37058995	37058995	A	G	MLH1	c.791-2A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37058995A>G	(Likely) pathogenic	1 lab	a324193c59
12:80803594 MISSING G>T	12	80803594	80803594	G	T	MISSING				NC_000012.11:g.80803594G>T	(Likely) benign	1 lab	a324c586cd
3:9965927 IL17RC G>C	3	9965927	9965927	G	C	IL17RC	c.987G>C	NM_153461.4	NP_703191.2:p.(Gln329His)	NC_000003.11:g.9965927G>C	(Likely) benign	1 lab	0facce84b9
19:11547318 PRKCSH A>C	19	11547318	11547318	A	C	PRKCSH	c.188A>C	NM_002743.3	NP_002734.2:p.(Asp63Ala)	NC_000019.9:g.11547318A>C	VUS	1 lab	a328606831
13:20763686 GJB2 C>A	13	20763686	20763686	C	A	GJB2	c.35G>T	NM_004004.5	NP_003995.2:p.(Gly12Val)	NC_000013.10:g.20763686C>A	(Likely) pathogenic	1 lab	a32b96cd20
X:107920865 COL4A5 T>C	X	107920865	107920865	T	C	COL4A5	c.3942+2T>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107920865T>C	(Likely) pathogenic	1 lab	a32c214e6e
12:6103072 VWF C>T	12	6103072	6103072	C	T	VWF	c.6554G>A	NM_000552.3	NP_000543.2:p.(Arg2185Gln)	NC_000012.11:g.6103072C>T	(Likely) benign	1 lab	a32cf3ae58
14:95574406 DICER1 G>A	14	95574406	95574406	G	A	DICER1	c.2461C>T	NM_030621.4	NP_085124.2:p.(Arg821Cys)	NC_000014.8:g.95574406G>A	VUS	1 lab	a32ef11789
9:130423471 STXBP1 C>T	9	130423471	130423471	C	T	STXBP1	c.416C>T	NM_003165.3	NP_003156.1:p.(Pro139Leu)	NC_000009.11:g.130423471C>T	(Likely) pathogenic	1 lab	a330834abf
19:47260071 FKRP C>A	19	47260071	47260071	C	A	FKRP	c.1364C>A	NM_024301.5	NP_077277.1:p.(Ala455Asp)	NC_000019.9:g.47260071C>A	(Likely) pathogenic	1 lab	0fae140e8d
10:72604246 SGPL1 A>G	10	72604246	72604246	A	G	SGPL1	c.44A>G	NM_003901.4	NP_003892.2:p.(Tyr15Cys)	NC_000010.10:g.72604246A>G	VUS	1 lab	a3351d02ee
14:23874990 MYH6 C>T	14	23874990	23874990	C	T	MYH6	c.202-11G>A	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23874990C>T	(Likely) benign	1 lab	a335b56735
14:23894232 MYH7 C>G	14	23894232	23894232	C	G	MYH7	c.2425G>C	NM_000257.4	NP_000248.2:p.(Asp809His)	NC_000014.8:g.23894232C>G	VUS	1 lab	a335c4e133
4:1801505 FGFR3 G>C	4	1801505	1801505	G	C	FGFR3	c.411G>C	NM_000142.4	NP_000133.1:p.(Gly137=)	NC_000004.11:g.1801505G>C	(Likely) benign	1 lab	a3375ffc7f
16:89349118 ANKRD11 T>A	16	89349118	89349118	T	A	ANKRD11	c.3832A>T	NM_001256182.1	NP_001243111.1:p.(Lys1278Ter)	NC_000016.9:g.89349118T>A	(Likely) pathogenic	1 lab	a33789ff3a
13:32921006 BRCA2 T>G	13	32921006	32921006	T	G	BRCA2	c.6980T>G	NM_000059.3	NP_000050.2:p.(Leu2327Ter)	NC_000013.10:g.32921006T>G	(Likely) pathogenic	1 lab	a337b4ea18
6:42689770 PRPH2 G>C	6	42689770	42689770	G	C	PRPH2	c.303C>G	NM_000322.4	NP_000313.2:p.(Tyr101Ter)	NC_000006.11:g.42689770G>C	(Likely) pathogenic	1 lab	a338a27e07
8:143958599 CYP11B1 A>G	8	143958599	143958599	A	G	CYP11B1	c.435T>C	NM_000497.3	NP_000488.3:p.(Asn145=)	NC_000008.10:g.143958599A>G	(Likely) benign	1 lab	a33b183b55
3:38889141 SCN11A G>A	3	38889141	38889141	G	A	SCN11A	c.4420C>T	NM_014139.2	NP_054858.2:p.(Leu1474=)	NC_000003.11:g.38889141G>A	(Likely) benign	1 lab	a33ba5fd5b
10:94353212 KIF11 A>G	10	94353212	94353212	A	G	KIF11				NC_000010.10:g.94353212A>G	VUS	1 lab	a33cae294e
18:19345805 MIB1 CAG>C	18	19345805	19345809	CAG	C	MIB1	c.305_306del	NM_020774.3	NP_065825.1:p.(Glu102ValfsTer5)	NC_000018.9:g.19345808_19345809del	VUS	1 lab	a33e75459f
1:16378854 CLCNKB G>A	1	16378854	16378854	G	A	CLCNKB				NC_000001.10:g.16378854G>A	(Likely) benign	1 lab	a33f0029e9
1:244218467 ZBTB18 G>A	1	244218467	244218467	G	A	ZBTB18	c.1391G>A	NM_205768.3	NP_991331.1:p.(Arg464His)	NC_000001.10:g.244218467G>A	VUS	1 lab	a33fa3cd3c
10:69881521 MYPN C>T	10	69881521	69881521	C	T	MYPN	c.326C>T	NM_032578.3	NP_115967.2:p.(Pro109Leu)	NC_000010.10:g.69881521C>T	(Likely) benign	1 lab	a342e8b8a4
11:26568966 ANO3 A>G	11	26568966	26568966	A	G	ANO3	c.1158A>G	NM_031418.3	NP_113606.2:p.(Leu386=)	NC_000011.9:g.26568966A>G	(Likely) benign	1 lab	a345d4d4b0
2:179413030 TTN A>G	2	179413030	179413030	A	G	TTN	c.93323T>C	NM_001267550.2	NP_001254479.2:p.(Ile31108Thr)	NC_000002.11:g.179413030A>G	(Likely) benign	1 lab	a3460fbd2b
15:85406801 ALPK3 A>G	15	85406801	85406801	A	G	ALPK3	c.5035A>G	NM_020778.4	NP_065829.3:p.(Met1679Val)	NC_000015.9:g.85406801A>G	VUS	1 lab	a3478972f6
11:533467 HRAS C>G	11	533467	533467	C	G	HRAS	c.436G>C	NM_005343.2	NP_005334.1:p.(Ala146Pro)	NC_000011.9:g.533467C>G	(Likely) pathogenic	1 lab	a347c957da
12:133219581 POLE A>AC	12	133219581	133219583	A	AC	POLE	c.4552dup	NM_006231.4	NP_006222.2:p.(Val1518GlyfsTer27)	NC_000012.11:g.133219583dup	VUS	1 lab	0a94a645b3
11:108143287 ATM T>C	11	108143287	108143287	T	C	ATM	c.3106T>C	NM_000051.4	NP_000042.3:p.(Phe1036Leu)	NC_000011.9:g.108143287T>C	(Likely) benign	1 lab	a34bea6a27
17:29496939 NF1 CAATGTTGATGTTCATGATAT>C	17	29496939	29496960	CAATGTTGATGTTCATGATAT	C	NF1	c.512_531del	NM_000267.3	NP_000258.1:p.(Asn171ArgfsTer23)	NC_000017.10:g.29496941_29496960del	(Likely) pathogenic	1 lab	a34dbfe9ba
11:108141867 ATM C>T	11	108141867	108141867	C	T	ATM	c.2915C>T	NM_000051.3	NP_000042.3:p.(Pro972Leu)	NC_000011.9:g.108141867C>T	VUS	1 lab	a350e6f710
1:196648794 CFH A>G	1	196648794	196648794	A	G	CFH	c.661A>G	NM_000186.4	NP_000177.2:p.(Ile221Val)	NC_000001.10:g.196648794A>G	(Likely) benign	1 lab	a3514908ea
16:23637549 PALB2 C>T	16	23637549	23637549	C	T	PALB2	c.2748+8G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23637549C>T	(Likely) benign	1 lab	a351b69c56
8:41798963 KAT6A C>T	8	41798963	41798963	C	T	KAT6A	c.2437-1G>A	NM_006766.4	NP_006757.2:p.?	NC_000008.10:g.41798963C>T	(Likely) pathogenic	1 lab	a351ef2546
3:37038112 MLH1 T>G	3	37038112	37038112	T	G	MLH1	c.119T>G	NM_000249.4	NP_000240.1:p.(Leu40Ter)	NC_000003.11:g.37038112T>G	(Likely) pathogenic	1 lab	a3521549b4
4:120057764 MYOZ2 T>C	4	120057764	120057764	T	C	MYOZ2	c.76+8T>C	NM_016599.5	NP_057683.1:p.?	NC_000004.11:g.120057764T>C	(Likely) benign	1 lab	0a94afa9be
9:139403295 NOTCH1 G>A	9	139403295	139403295	G	A	NOTCH1	c.3171+27C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139403295G>A	(Likely) benign	1 lab	a353891856
10:43597920 RET C>T	10	43597920	43597920	C	T	RET	c.468C>T	NM_020975.6	NP_066124.1:p.(Ala156=)	NC_000010.10:g.43597920C>T	(Likely) benign	1 lab	a355562dce
12:49579755 TUBA1A G>C	12	49579755	49579755	G	C	TUBA1A	c.394C>G	NM_001270399.1	NP_001257328.1:p.(Leu132Val)	NC_000012.11:g.49579755G>C	VUS	1 lab	a356b4bae2
7:128495367 FLNC A>T	7	128495367	128495367	A	T	FLNC	c.7250A>T	NM_001458.4	NP_001449.3:p.(Gln2417Leu)	NC_000007.13:g.128495367A>T	VUS	1 lab	a35720dd0a
9:126134549 CRB2 C>T	9	126134549	126134549	C	T	CRB2				NC_000009.11:g.126134549C>T	(Likely) pathogenic	1 lab	a357d5e2e8
2:26690017 OTOF C>A	2	26690017	26690017	C	A	OTOF				NC_000002.11:g.26690017C>A	VUS	1 lab	a383de1dd3
11:108155007 ATM AG>A	11	108155007	108155009	AG	A	ATM	c.3802del	NM_000051.4	NP_000042.3:p.(Val1268Ter)	NC_000011.9:g.108155009del	(Likely) pathogenic	1 lab	0faff326ac
10:28884871 WAC C>A	10	28884871	28884871	C	A	WAC	c.820C>A	NM_016628.4	NP_057712.2:p.(His274Asn)	NC_000010.10:g.28884871C>A	(Likely) benign	1 lab	a35c5e2d46
2:179442241 TTN C>CA	2	179442241	179442244	C	CA	TTN	c.68825-5dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179442244dup	(Likely) benign	1 lab	a35f5a8ecc
22:37273751 NCF4 C>T	22	37273751	37273751	C	T	NCF4	c.906C>T	NM_000631.5	NP_000622.2:p.(Asp302=)	NC_000022.10:g.37273751C>T	(Likely) benign	1 lab	0fb49900f7
8:133935642 TG C>T	8	133935642	133935642	C	T	TG				NC_000008.10:g.133935642C>T	(Likely) pathogenic	1 lab	b2da0c06e7
3:129249760 RHO C>T	3	129249760	129249760	C	T	RHO	c.403C>T	NM_000539.3	NP_000530.1:p.(Arg135Trp)	NC_000003.11:g.129249760C>T	(Likely) pathogenic	1 lab	a361a38688
6:7580100 DSP T>C	6	7580100	7580100	T	C	DSP	c.3677T>C	NM_004415.4	NP_004406.2:p.(Met1226Thr)	NC_000006.11:g.7580100T>C	(Likely) benign	1 lab	a3634464d5
5:112175379 APC A>G	5	112175379	112175379	A	G	APC	c.4088A>G	NM_000038.6	NP_000029.2:p.(Lys1363Arg)	NC_000005.9:g.112175379A>G	VUS	1 lab	a364a22d10
21:33073316 SCAF4 AT>A	21	33073316	33073317	AT	A	SCAF4	c.768del	NM_020706.2	NP_065757.1:p.(Phe257LeufsTer89)	NC_000021.8:g.33073317del	VUS	1 lab	a3682de848
2:73675966 MISSING GTA>G	2	73675966	73675969	GTA	G	MISSING				NC_000002.11:g.73675968_73675969del	(Likely) pathogenic	1 lab	a368eb6c8b
10:73492079 C10orf105 A>G	10	73492079	73492079	A	G	C10orf105	c.-6+5406T>C	NM_001168390.2	NP_001161862.1:p.?	NC_000010.10:g.73492079A>G	(Likely) benign	1 lab	0a95472614
1:201330474 TNNT2 TG>CC	1	201330474	201330475	TG	CC	TNNT2	c.712_713delinsGG	NM_001001430.2	NP_001001430.1:p.(Gln238Gly)	NC_000001.10:g.201330474_201330475delinsCC	(Likely) benign	1 lab	a36e65a288
X:107840263 COL4A5 G>A	X	107840263	107840263	G	A	COL4A5	c.1552G>A	NM_033380.2	NP_203699.1:p.(Gly518Arg)	NC_000023.10:g.107840263G>A	VUS	1 lab	a36eebab1b
4:6303844 WFS1 G>A	4	6303844	6303844	G	A	WFS1	c.2322G>A	NM_006005.3	NP_005996.2:p.(Lys774=)	NC_000004.11:g.6303844G>A	(Likely) benign	1 lab	a36fed3985
10:92678765 ANKRD1 A>G	10	92678765	92678765	A	G	ANKRD1	c.346-36T>C	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92678765A>G	(Likely) benign	1 lab	a3709c2f37
2:228118297 COL4A3 AC>A	2	228118297	228118302	AC	A	COL4A3	c.713del	NM_000091.4	NP_000082.2:p.(Pro238ArgfsTer9)	NC_000002.11:g.228118302del	(Likely) pathogenic	1 lab	a373497f44
4:663843 PDE6B G>C	4	663843	663843	G	C	PDE6B				NC_000004.11:g.663843G>C	(Likely) benign	1 lab	a37372d135
17:41243999 BRCA1 T>A	17	41243999	41243999	T	A	BRCA1	c.3549A>T	NM_007294.4	NP_009225.1:p.(Lys1183Asn)	NC_000017.10:g.41243999T>A	(Likely) pathogenic	1 lab	a375f6cd7a
2:48026791 MSH6 G>A	2	48026791	48026791	G	A	MSH6	c.1669G>A	NM_000179.2	NP_000170.1:p.(Gly557Ser)	NC_000002.11:g.48026791G>A	VUS	1 lab	a3791c8ce4
6:51497532 PKHD1 G>A	6	51497532	51497532	G	A	PKHD1	c.11507-11C>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51497532G>A	(Likely) benign	1 lab	0fbbfef0b8
3:37067226 MLH1 T>A	3	37067226	37067226	T	A	MLH1	c.1137T>A	NM_000249.4	NP_000240.1:p.(Tyr379Ter)	NC_000003.11:g.37067226T>A	(Likely) pathogenic	1 lab	a37d0af891
22:32151179 DEPDC5 G>A	22	32151179	32151179	G	A	DEPDC5	c.58+214G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32151179G>A	(Likely) benign	1 lab	0fbd78a425
19:38994959 RYR1 C>T	19	38994959	38994959	C	T	RYR1	c.8026C>T	NM_000540.2	NP_000531.2:p.(Arg2676Trp)	NC_000019.9:g.38994959C>T	(Likely) pathogenic	1 lab	a37f6495e4
12:56577703 SMARCC2 G>A	12	56577703	56577703	G	A	SMARCC2	c.574C>T	NM_001330288.2	NP_001317217.1:p.(Arg192Ter)	NC_000012.11:g.56577703G>A	VUS	1 lab	a3813a6d6d
7:150655624 KCNH2 T>C	7	150655624	150655624	T	C	KCNH2	c.473-34A>G	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150655624T>C	(Likely) benign	1 lab	a385111343
2:99008421 CNGA3 C>T	2	99008421	99008421	C	T	CNGA3				NC_000002.11:g.99008421C>T	(Likely) pathogenic	1 lab	a386f75d28
2:47656879 MSH2 A>T	2	47656879	47656879	A	T	MSH2	c.1077-2A>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47656879A>T	(Likely) pathogenic	1 lab	a38cbcb0c4
2:179629452 TTN C>T	2	179629452	179629452	C	T	TTN	c.9790G>A	NM_001267550.2	NP_001254479.2:p.(Gly3264Arg)	NC_000002.11:g.179629452C>T	VUS	1 lab	0a98057362
1:231557511 EGLN1 A>G	1	231557511	231557511	A	G	EGLN1	c.124T>C	NM_022051.2	NP_071334.1:p.(Cys42Arg)	NC_000001.10:g.231557511A>G	VUS	1 lab	a3947dbf9a
1:244217329 ZBTB18 G>A	1	244217329	244217329	G	A	ZBTB18	c.253G>A	NM_205768.3	NP_991331.1:p.(Ala85Thr)	NC_000001.10:g.244217329G>A	(Likely) pathogenic	1 lab	a39542f15b
14:51094781 ATL1 A>G	14	51094781	51094781	A	G	ATL1	c.1152A>G	NM_015915.4	NP_056999.2:p.(Pro384=)	NC_000014.8:g.51094781A>G	(Likely) benign	1 lab	a396189a71
1:11865942 MTHFR C>A	1	11865942	11865942	C	A	MTHFR	c.-14+3G>T	NM_005957.5	NP_005948.3:p.?	NC_000001.10:g.11865942C>A	VUS	1 lab	0a989eb691
4:169927999 CBR4 G>A	4	169927999	169927999	G	A	CBR4	c.307C>T	NM_032783.4	NP_116172.2:p.(Gln103Ter)	NC_000004.11:g.169927999G>A	VUS	1 lab	a39b3a193e
16:3801726 CREBBP C>T	16	3801726	3801726	C	T	CREBBP	c.3779+1G>A	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3801726C>T	(Likely) pathogenic	1 lab	a39ce93c65
X:47038792 RBM10 C>T	X	47038792	47038792	C	T	RBM10	c.994C>T	NM_001204468.1	NP_001191397.1:p.(Gln332Ter)	NC_000023.10:g.47038792C>T	(Likely) pathogenic	1 lab	a3a6516678
7:128038611 IMPDH1 C>T	7	128038611	128038611	C	T	IMPDH1	c.931G>A	NM_000883.3	NP_000874.2:p.(Asp311Asn)	NC_000007.13:g.128038611C>T	(Likely) pathogenic	1 lab	a3a65f0c04
11:108224632 ATM G>A	11	108224632	108224632	G	A	ATM	c.8786+25G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108224632G>A	(Likely) benign	1 lab	a3a68835ba
2:179476571 TTN A>G	2	179476571	179476571	A	G	TTN	c.50465T>C	NM_001267550.2	NP_001254479.2:p.(Val16822Ala)	NC_000002.11:g.179476571A>G	VUS	1 lab	a3a69e0207
11:119148876 CBL G>A	11	119148876	119148876	G	A	CBL				NC_000011.9:g.119148876G>A	(Likely) pathogenic	1 lab	a3a7a0c288
11:108198379 ATM C>T	11	108198379	108198379	C	T	ATM	c.6983C>T	NM_000051.4	NP_000042.3:p.(Pro2328Leu)	NC_000011.9:g.108198379C>T	VUS	1 lab	a3a84af5c0
7:116381037 MET C>T	7	116381037	116381037	C	T	MET	c.1659C>T	NM_000245.3	NP_000236.2:p.(Ser553=)	NC_000007.13:g.116381037C>T	(Likely) benign	1 lab	a3a8c80021
19:13370440 CACNA1A G>T	19	13370440	13370440	G	T	CACNA1A	c.4329C>A	NM_001127221.2	NP_001120693.1:p.(Tyr1443Ter)	NC_000019.9:g.13370440G>T	(Likely) pathogenic	1 lab	a3a8c80534
12:52159595 SCN8A A>G	12	52159595	52159595	A	G	SCN8A	c.2685A>G	NM_001330260.2	NP_001317189.1:p.(Gln895=)	NC_000012.11:g.52159595A>G	(Likely) benign	1 lab	a3abfb4e8a
1:216017681 USH2A C>T	1	216017681	216017681	C	T	USH2A	c.9213G>A	NM_206933.2	NP_996816.2:p.(Ser3071=)	NC_000001.10:g.216017681C>T	(Likely) benign	1 lab	a3ac42aa09
4:114267122 ANK2 G>T	4	114267122	114267122	G	T	ANK2	c.4315G>T	NM_001148.5	NP_001139.3:p.(Gly1439Cys)	NC_000004.11:g.114267122G>T	(Likely) benign	1 lab	a3ac4987ee
10:73468923 CDH23 G>C	10	73468923	73468923	G	C	CDH23	c.3175G>C	NM_022124.6	NP_071407.4:p.(Asp1059His)	NC_000010.10:g.73468923G>C	VUS	1 lab	a3ac4baeb2
9:98242872 PTCH1 T>C	9	98242872	98242872	T	C	PTCH1	c.747-2A>G	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98242872T>C	(Likely) pathogenic	1 lab	a3acdc53c9
2:179485115 TTN T>C	2	179485115	179485115	T	C	TTN	c.46133A>G	NM_001267550.2	NP_001254479.2:p.(Asp15378Gly)	NC_000002.11:g.179485115T>C	VUS	1 lab	a3aea31dd4
2:29416472 ALK C>T	2	29416472	29416472	C	T	ALK	c.4481G>A	NM_004304.5	NP_004295.2:p.(Gly1494Glu)	NC_000002.11:g.29416472C>T	VUS	1 lab	a3b87811b0
18:28648969 DSC2 GC>G	18	28648969	28648975	GC	G	DSC2	c.2398del	NM_024422.6	NP_077740.1:p.(Ala800LeufsTer56)	NC_000018.9:g.28648975del	(Likely) pathogenic	1 lab	a3b9edfe39
10:79769277 POLR3A C>T	10	79769277	79769277	C	T	POLR3A	c.1909+18G>A	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769277C>T	(Likely) pathogenic	1 lab	a3bbcb7191
3:43120835 POMGNT2 T>G	3	43120835	43120835	T	G	POMGNT2				NC_000003.11:g.43120835T>G	(Likely) benign	1 lab	ad04322771
2:179460423 TTN C>G	2	179460423	179460423	C	G	TTN	c.57658G>C	NM_001267550.2	NP_001254479.2:p.(Val19220Leu)	NC_000002.11:g.179460423C>G	(Likely) benign	1 lab	a3c3088a76
11:61205292 SDHAF2 G>A	11	61205292	61205292	G	A	SDHAF2	c.232G>A	NM_017841.4	NP_060311.1:p.(Gly78Arg)	NC_000011.9:g.61205292G>A	(Likely) pathogenic	1 lab	a3c3cc50bd
17:8193203 RANGRF G>A	17	8193203	8193203	G	A	RANGRF	c.510G>A	NM_016492.4	NP_057576.2:p.(Gln170=)	NC_000017.10:g.8193203G>A	(Likely) benign	1 lab	a3c50dacb5
19:13366056 CACNA1A G>A	19	13366056	13366056	G	A	CACNA1A				NC_000019.9:g.13366056G>A	(Likely) benign	1 lab	a3c81e142d
13:32968870 BRCA2 C>G	13	32968870	32968870	C	G	BRCA2	c.9301C>G	NM_000059.3	NP_000050.2:p.(Leu3101Val)	NC_000013.10:g.32968870C>G	VUS	1 lab	a3ca79a5cd
19:54621692 PRPF31 G>T	19	54621692	54621692	G	T	PRPF31	c.34G>T	NM_015629.3	NP_056444.3:p.(Glu12Ter)	NC_000019.9:g.54621692G>T	(Likely) pathogenic	1 lab	a3cd0233dd
11:121028795 TECTA C>G	11	121028795	121028795	C	G	TECTA				NC_000011.9:g.121028795C>G	VUS	1 lab	a3d0a7fe61
6:43013335 CUL7 C>T	6	43013335	43013335	C	T	CUL7	c.3104G>A	NM_001168370.1	NP_001161842.1:p.(Arg1035His)	NC_000006.11:g.43013335C>T	VUS	1 lab	a3d142653f
2:167083041 SCN9A C>T	2	167083041	167083041	C	T	SCN9A	c.4365+36G>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167083041C>T	(Likely) benign	1 lab	a3d21eee5a
2:47690271 MSH2 A>G	2	47690271	47690271	A	G	MSH2	c.1488A>G	NM_000251.2	NP_000242.1:p.(Leu496=)	NC_000002.11:g.47690271A>G	(Likely) benign	1 lab	a3d3e0ad96
1:237870309 RYR2 T>A	1	237870309	237870309	T	A	RYR2	c.9641T>A	NM_001035.3	NP_001026.2:p.(Leu3214His)	NC_000001.10:g.237870309T>A	VUS	1 lab	a3d495934b
2:210843282 UNC80 G>A	2	210843282	210843282	G	A	UNC80	c.8770G>A	NM_032504.1	NP_115893.1:p.(Val2924Met)	NC_000002.11:g.210843282G>A	VUS	1 lab	a3d5ee6099
12:33031427 PKP2 C>T	12	33031427	33031427	C	T	PKP2	c.387G>A	NM_004572.3	NP_004563.2:p.(Gln129=)	NC_000012.11:g.33031427C>T	(Likely) benign	1 lab	a3d9f708cc
X:154133142 F8 G>A	X	154133142	154133142	G	A	F8	c.5530C>T	NM_000132.3	NP_000123.1:p.(Pro1844Ser)	NC_000023.10:g.154133142G>A	(Likely) pathogenic	1 lab	a3dd5ab287
1:94508366 ABCA4 G>T	1	94508366	94508366	G	T	ABCA4	c.3279C>A	NM_000350.3	NP_000341.2:p.(Asp1093Glu)	NC_000001.10:g.94508366G>T	(Likely) pathogenic	1 lab	a3e178b33b
1:145508462 RBM8A C>A	1	145508462	145508462	C	A	RBM8A	c.206-13C>A	NM_005105.5	NP_005096.1:p.?	NC_000001.10:g.145508462C>A	(Likely) pathogenic	1 lab	a3e2c41a43
8:11607527 GATA4 G>A	8	11607527	11607527	G	A	GATA4	c.784-93G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11607527G>A	(Likely) benign	1 lab	a3e4391e01
5:76704849 PDE8B T>C	5	76704849	76704849	T	C	PDE8B	c.1497=	NM_003719.5	NP_003710.1:p.(Pro499=)	NC_000005.9:g.76704849T>C	(Likely) benign	1 lab	0aa225e833
16:16208766 ABCC1 C>T	16	16208766	16208766	C	T	ABCC1	c.3223C>T	NM_004996.4	NP_004987.2:p.(Arg1075Cys)	NC_000016.9:g.16208766C>T	VUS	1 lab	a3e7e69ec1
15:93552430 CHD2 A>ACAAGGGGCTC	15	93552430	93552440	A	ACAAGGGGCTC	CHD2	c.4470_4479dup	NM_001271.3	NP_001262.3:p.(Asn1494GlnfsTer28)	NC_000015.9:g.93552431_93552440dup	(Likely) pathogenic	1 lab	a3e8121bde
16:89611148 SPG7 C>T	16	89611148	89611148	C	T	SPG7	c.1417C>T	NM_003119.4	NP_003110.1:p.(Arg473Trp)	NC_000016.9:g.89611148C>T	VUS	1 lab	a3e916154c
1:26135098 SELENON C>T	1	26135098	26135098	C	T	SELENON	c.565C>T	NM_020451.2	NP_065184.2:p.(Arg189Ter)	NC_000001.10:g.26135098C>T	(Likely) pathogenic	1 lab	a3e92a6ae3
2:227890534 COL4A4 G>A	2	227890534	227890534	G	A	COL4A4	c.4082-8C>T	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227890534G>A	(Likely) benign	1 lab	a3e933ab1e
9:134390831 POMT1 CCT>C	9	134390831	134390833	CCT	C	POMT1				NC_000009.11:g.134390832_134390833del	(Likely) pathogenic	1 lab	a3ebf74919
X:153648363 TAFAZZIN CT>C	X	153648363	153648364	CT	C	TAFAZZIN	c.584-7del	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648364del	(Likely) benign	1 lab	a3ec247053
11:68560787 CPT1A C>T	11	68560787	68560787	C	T	CPT1A	c.963G>A	NM_001876.3	NP_001867.2:p.(Glu321=)	NC_000011.9:g.68560787C>T	(Likely) benign	1 lab	a3ee0813f0
6:33135610 COL11A2 C>A	6	33135610	33135610	C	A	COL11A2	c.3980G>T	NM_080680.2	NP_542411.2:p.(Gly1327Val)	NC_000006.11:g.33135610C>A	(Likely) pathogenic	1 lab	a3ee24bd52
12:25398266 KRAS G>A	12	25398266	25398266	G	A	KRAS	c.53C>T	NM_033360.2	NP_203524.1:p.(Ala18Val)	NC_000012.11:g.25398266G>A	(Likely) pathogenic	1 lab	a3f352826d
13:20767115 GJB2 A>C	13	20767115	20767115	A	C	GJB2				NC_000013.10:g.20767115A>C	(Likely) benign	1 lab	a3f406abf1
17:7990690 ALOX12B A>G	17	7990690	7990690	A	G	ALOX12B	c.71T>C	NM_001139.2	NP_001130.1:p.(Leu24Pro)	NC_000017.10:g.7990690A>G	(Likely) pathogenic	1 lab	a3f69eba22
16:2816656 MISSING C>T	16	2816656	2816656	C	T	MISSING				NC_000016.9:g.2816656C>T	(Likely) pathogenic	1 lab	a3f91ed6ba
6:32006118 CYP21A2 C>T	6	32006118	32006118	C	T	CYP21A2	c.-82C>T	NM_000500.7	NP_000491.4:p.?	NC_000006.11:g.32006118C>T	(Likely) benign	1 lab	a3f95d4c0a
8:143956699 CYP11B1 C>T	8	143956699	143956699	C	T	CYP11B1	c.1151G>A	NM_000497.4	NP_000488.3:p.(Arg384Gln)	NC_000008.10:g.143956699C>T	(Likely) pathogenic	1 lab	a3fa21275f
X:49105321 CCDC22 C>G	X	49105321	49105321	C	G	CCDC22	c.1475C>G	NM_014008.4	NP_054727.1:p.(Ala492Gly)	NC_000023.10:g.49105321C>G	VUS	1 lab	a3fa331a27
17:48674144 CACNA1G A>G	17	48674144	48674144	A	G	CACNA1G	c.3118A>G	NM_018896.5	NP_061496.2:p.(Ile1040Val)	NC_000017.10:g.48674144A>G	VUS	1 lab	0aa70f6241
9:35657914 RMRP G>A	9	35657914	35657914	G	A	RMRP	n.102C>T	NR_003051.3		NC_000009.11:g.35657914G>A	(Likely) pathogenic	1 lab	a3fd015ddd
14:105693011 BRF1 G>T	14	105693011	105693011	G	T	BRF1	c.875C>A	NM_001519.3	NP_001510.2:p.(Pro292His)	NC_000014.8:g.105693011G>T	(Likely) pathogenic	1 lab	a3fd741e6f
3:170723276 SLC2A2 G>A	3	170723276	170723276	G	A	SLC2A2	c.776-15C>T	NM_000340.1	NP_000331.1:p.?	NC_000003.11:g.170723276G>A	(Likely) benign	1 lab	a4010dc5be
1:244217200 ZBTB18 G>A	1	244217200	244217200	G	A	ZBTB18	c.124G>A	NM_205768.3	NP_991331.1:p.(Ala42Thr)	NC_000001.10:g.244217200G>A	VUS	1 lab	0aa9a8cdaa
17:15162437 PMP22 T>C	17	15162437	15162437	T	C	PMP22	c.152A>G	NM_153321.3	NP_696996.1:p.(His51Arg)	NC_000017.10:g.15162437T>C	(Likely) benign	1 lab	a4072f4349
11:76895761 MYO7A G>T	11	76895761	76895761	G	T	MYO7A	c.3503+1G>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76895761G>T	(Likely) pathogenic	1 lab	a407a31d12
14:51058293 ATL1 G>C	14	51058293	51058293	G	C	ATL1	c.458G>C	NM_015915.5	NP_056999.2:p.(Ser153Thr)	NC_000014.8:g.51058293G>C	(Likely) pathogenic	1 lab	a40a233e37
17:41246245 BRCA1 C>A	17	41246245	41246245	C	A	BRCA1	c.1303G>T	NM_007294.3	NP_009225.1:p.(Asp435Tyr)	NC_000017.10:g.41246245C>A	VUS	1 lab	a40bdbc17f
2:179463947 TTN C>T	2	179463947	179463947	C	T	TTN	c.56573G>A	NM_001267550.2	NP_001254479.2:p.(Arg18858Gln)	NC_000002.11:g.179463947C>T	VUS	1 lab	a40cd511ea
10:88476235 LDB3 T>C	10	88476235	88476235	T	C	LDB3	c.1383T>C	NM_007078.2	NP_009009.1:p.(Tyr461=)	NC_000010.10:g.88476235T>C	(Likely) benign	1 lab	a40f07e95b
8:38273572 FGFR1 A>T	8	38273572	38273572	A	T	FGFR1	c.1670T>A	NM_023110.2	NP_075598.2:p.(Leu557Ter)	NC_000008.10:g.38273572A>T	(Likely) pathogenic	1 lab	a4101ad5ce
X:47433945 SYN1 G>A	X	47433945	47433945	G	A	SYN1	c.1438C>T	NM_006950.3	NP_008881.2:p.(Pro480Ser)	NC_000023.10:g.47433945G>A	(Likely) benign	1 lab	a4129dcf3e
4:149357601 NR3C2 C>A	4	149357601	149357601	C	A	NR3C2	c.412G>T	NM_000901.4	NP_000892.2:p.(Glu138Ter)	NC_000004.11:g.149357601C>A	(Likely) pathogenic	1 lab	a415ba3831
9:123805436 C5 T>G	9	123805436	123805436	T	G	C5	c.267A>C	NM_001735.3	NP_001726.2:p.(Pro89=)	NC_000009.11:g.123805436T>G	VUS	1 lab	a415cbd3c5
18:732834 MISSING C>A	18	732834	732834	C	A	MISSING				NC_000018.9:g.732834C>A	VUS	1 lab	a415ea50ea
2:178095974 MISSING G>A	2	178095974	178095974	G	A	MISSING				NC_000002.11:g.178095974G>A	VUS	1 lab	a41776e711
10:112343923 SMC3 T>C	10	112343923	112343923	T	C	SMC3	c.1092-18T>C	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112343923T>C	(Likely) benign	1 lab	a41789ef1f
15:66737041 MAP2K1 C>T	15	66737041	66737041	C	T	MAP2K1	c.564C>T	NM_002755.3	NP_002746.1:p.(His188=)	NC_000015.9:g.66737041C>T	(Likely) benign	1 lab	a418130035
15:73615716 HCN4 C>T	15	73615716	73615716	C	T	HCN4	c.2718G>A	NM_005477.3	NP_005468.1:p.(Gly906=)	NC_000015.9:g.73615716C>T	(Likely) benign	1 lab	a41c550e9b
19:18990163 GDF1 C>T	19	18990163	18990163	C	T	GDF1	c.-536G>A	NM_001492.5	NP_001483.3:p.?	NC_000019.9:g.18990163C>T	(Likely) benign	1 lab	a41ed66582
7:6038771 PMS2 C>A	7	6038771	6038771	C	A	PMS2	c.673G>T	NM_000535.6	NP_000526.2:p.(Glu225Ter)	NC_000007.13:g.6038771C>A	(Likely) pathogenic	1 lab	a420877efb
11:68171032 LRP5 GA>G	11	68171032	68171033	GA	G	LRP5	c.1667del	NM_002335.2	NP_002326.2:p.(Asp556AlafsTer33)	NC_000011.9:g.68171033del	(Likely) pathogenic	1 lab	a4253e2964
9:139391076 NOTCH1 C>T	9	139391076	139391076	C	T	NOTCH1	c.7115G>A	NM_017617.5	NP_060087.3:p.(Arg2372Gln)	NC_000009.11:g.139391076C>T	(Likely) benign	1 lab	a433aaadc6
8:145741257 RECQL4 C>T	8	145741257	145741257	C	T	RECQL4	c.1149G>A	NM_004260.3	NP_004251.3:p.(Trp383Ter)	NC_000008.10:g.145741257C>T	(Likely) pathogenic	1 lab	a434c71b72
21:44484068 CBS G>A	21	44484068	44484068	G	A	CBS				NC_000021.8:g.44484068G>A	(Likely) pathogenic	1 lab	a4350cba3d
5:112175216 APC G>T	5	112175216	112175216	G	T	APC	c.3925G>T	NM_000038.5	NP_000029.2:p.(Glu1309Ter)	NC_000005.9:g.112175216G>T	(Likely) pathogenic	1 lab	a435287bcf
6:87967530 ZNF292 T>C	6	87967530	87967530	T	C	ZNF292	c.4183T>C	NM_015021.3	NP_055836.1:p.(Ser1395Pro)	NC_000006.11:g.87967530T>C	VUS	1 lab	a4383726c3
6:157528854 ARID1B CATGAT>C	6	157528854	157528859	CATGAT	C	ARID1B	c.6949_6953del	NM_001374828.1	NP_001361757.1:p.(Met2317ValfsTer46)	NC_000006.11:g.157528855_157528859del	(Likely) pathogenic	1 lab	a43a3d3ec2
2:219941063 NHEJ1 G>A	2	219941063	219941063	G	A	NHEJ1	c.*40C>T	NM_024782.3	NP_079058.1:p.?	NC_000002.11:g.219941063G>A	(Likely) benign	1 lab	0abd07ee3a
2:39239450 SOS1 A>C	2	39239450	39239450	A	C	SOS1	c.2207T>G	NM_005633.3	NP_005624.2:p.(Ile736Arg)	NC_000002.11:g.39239450A>C	(Likely) pathogenic	1 lab	a43ee60dad
12:6128401 VWF G>A	12	6128401	6128401	G	A	VWF	c.4183C>T	NM_000552.3	NP_000543.2:p.(Arg1395Trp)	NC_000012.11:g.6128401G>A	VUS	1 lab	a441c13736
7:150644079 KCNH2 C>T	7	150644079	150644079	C	T	KCNH2	c.3216G>A	NM_000238.3	NP_000229.1:p.(Thr1072=)	NC_000007.13:g.150644079C>T	(Likely) benign	1 lab	a44586508e
2:179456580 TTN A>G	2	179456580	179456580	A	G	TTN	c.33146T>C	NM_133432.3	NP_597676.3:p.(Val11049Ala)	NC_000002.11:g.179456580A>G	VUS	1 lab	0fcbf608da
17:39923792 JUP G>A	17	39923792	39923792	G	A	JUP	c.748C>T	NM_002230.2	NP_002221.1:p.(Leu250=)	NC_000017.10:g.39923792G>A	VUS	1 lab	a44fcdebf7
1:226127479 LEFTY2 G>A	1	226127479	226127479	G	A	LEFTY2	c.372C>T	NM_001172425.1	NP_001165896.1:p.(Asn124=)	NC_000001.10:g.226127479G>A	(Likely) benign	1 lab	a4516092f0
2:179459214 TTN T>A	2	179459214	179459214	T	A	TTN	c.58007A>T	NM_001267550.2	NP_001254479.2:p.(Asn19336Ile)	NC_000002.11:g.179459214T>A	(Likely) benign	1 lab	a453541d3b
7:128489006 FLNC A>G	7	128489006	128489006	A	G	FLNC	c.4897A>G	NM_001458.5	NP_001449.3:p.(Thr1633Ala)	NC_000007.13:g.128489006A>G	VUS	1 lab	a45793ec27
6:33653971 ITPR3 G>A	6	33653971	33653971	G	A	ITPR3	c.5809G>A	NM_002224.3	NP_002215.2:p.(Val1937Ile)	NC_000006.11:g.33653971G>A	(Likely) benign	1 lab	0fcd5c4d36
X:76891457 ATRX C>T	X	76891457	76891457	C	T	ATRX	c.4648G>A	NM_000489.3	NP_000480.2:p.(Val1550Met)	NC_000023.10:g.76891457C>T	VUS	1 lab	a45a947e5a
22:37471171 TMPRSS6 T>A	22	37471171	37471171	T	A	TMPRSS6	c.1369+4A>T	NM_153609.3	NP_705837.1:p.?	NC_000022.10:g.37471171T>A	VUS	1 lab	a45b6385ff
7:128494529 FLNC G>A	7	128494529	128494529	G	A	FLNC	c.6790G>A	NM_001458.4	NP_001449.3:p.(Ala2264Thr)	NC_000007.13:g.128494529G>A	VUS	1 lab	a45c5e23ac
8:143994806 CYP11B2 A>G	8	143994806	143994806	A	G	CYP11B2	c.1016T>C	NM_000498.3	NP_000489.3:p.(Ile339Thr)	NC_000008.10:g.143994806A>G	(Likely) benign	1 lab	a463ea754b
1:228526003 OBSCN T>TG	1	228526003	228526009	T	TG	OBSCN	c.19891dup	NM_001386125.1	NP_001373054.1:p.(Ala6631GlyfsTer3)	NC_000001.10:g.228526009dup	VUS	1 lab	a464d8dcf9
10:89690848 PTEN T>A	10	89690848	89690848	T	A	PTEN	c.253+2T>A	NM_000314.6	NP_000305.3:p.?	NC_000010.10:g.89690848T>A	(Likely) pathogenic	1 lab	a468aa9c23
11:17653297 OTOG C>A	11	17653297	17653297	C	A	OTOG	c.6797C>A	NM_001277269.1	NP_001264198.1:p.(Ser2266Ter)	NC_000011.9:g.17653297C>A	(Likely) pathogenic	1 lab	a46bc1039c
11:108124568 ATM A>G	11	108124568	108124568	A	G	ATM	c.1926A>G	NM_000051.3	NP_000042.3:p.(Glu642=)	NC_000011.9:g.108124568A>G	(Likely) benign	1 lab	a46ca30e1b
10:18828230 CACNB2 T>C	10	18828230	18828230	T	C	CACNB2	c.1395T>C	NM_000724.4	NP_000715.2:p.(Pro465=)	NC_000010.10:g.18828230T>C	(Likely) benign	1 lab	0fcdf72ff0
2:179407992 TTN T>C	2	179407992	179407992	T	C	TTN	c.89004A>G	NM_133378.4	NP_596869.4:p.(Gly29668=)	NC_000002.11:g.179407992T>C	VUS	1 lab	a46e5c6e84
3:38592943 SCN5A G>T	3	38592943	38592943	G	T	SCN5A	c.4920C>A	NM_198056.2	NP_932173.1:p.(Ala1640=)	NC_000003.11:g.38592943G>T	(Likely) benign	1 lab	a473638259
1:237890461 RYR2 A>C	1	237890461	237890461	A	C	RYR2	c.10800A>C	NM_001035.2	NP_001026.2:p.(Val3600=)	NC_000001.10:g.237890461A>C	(Likely) benign	1 lab	a4762b5641
14:23883184 MYH7 C>T	14	23883184	23883184	C	T	MYH7	c.5655+32G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23883184C>T	(Likely) benign	1 lab	a476c11597
17:18022880 MYO15A G>A	17	18022880	18022880	G	A	MYO15A	c.766G>A	NM_016239.3	NP_057323.3:p.(Glu256Lys)	NC_000017.10:g.18022880G>A	VUS	1 lab	a479043d4c
2:179403743 TTN G>A	2	179403743	179403743	G	A	TTN	c.98919C>T	NM_001267550.2	NP_001254479.2:p.(Ile32973=)	NC_000002.11:g.179403743G>A	(Likely) benign	1 lab	a479478ca2
2:167288918 SCN7A T>A	2	167288918	167288918	T	A	SCN7A	c.2502A>T	NM_002976.4	NP_002967.2:p.(Glu834Asp)	NC_000002.11:g.167288918T>A	(Likely) benign	1 lab	a4796db498
12:25380289 KRAS C>T	12	25380289	25380289	C	T	KRAS	c.169G>A	NM_004985.5	NP_004976.2:p.(Asp57Asn)	NC_000012.11:g.25380289C>T	(Likely) pathogenic	1 lab	a4822312ff
11:6640474 TPP1 G>T	11	6640474	6640474	G	T	TPP1	c.42C>A	NM_000391.4	NP_000382.3:p.(Ile14=)	NC_000011.9:g.6640474G>T	(Likely) benign	1 lab	0fd1bc4d3f
7:156798543 MNX1 G>A	7	156798543	156798543	G	A	MNX1				NC_000007.13:g.156798543G>A	(Likely) pathogenic	1 lab	a48291814d
10:88476074 LDB3 G>A	10	88476074	88476074	G	A	LDB3	c.1232-10G>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88476074G>A	(Likely) benign	1 lab	a482f85568
2:145147456 ZEB2 C>CT	2	145147456	145147457	C	CT	ZEB2	c.3206_3207insA	NM_014795.4	NP_055610.1:p.(Tyr1070ValfsTer54)	NC_000002.11:g.145147456_145147457insT	(Likely) pathogenic	1 lab	a4831471fd
19:17949204 JAK3 G>A	19	17949204	17949204	G	A	JAK3	c.1442-5C>T	NM_000215.3	NP_000206.2:p.?	NC_000019.9:g.17949204G>A	(Likely) benign	1 lab	0fd4832675
17:7405004 POLR2A A>G	17	7405004	7405004	A	G	POLR2A	c.2305A>G	NM_000937.5	NP_000928.1:p.(Met769Val)	NC_000017.10:g.7405004A>G	VUS	1 lab	0abeaeef14
X:44938397 KDM6A G>T	X	44938397	44938397	G	T	KDM6A	c.3101G>T	NM_001291415.2	NP_001278344.1:p.(Gly1034Val)	NC_000023.10:g.44938397G>T	VUS	1 lab	a4913775e2
5:112173377 APC G>T	5	112173377	112173377	G	T	APC	c.2086G>T	NM_000038.5	NP_000029.2:p.(Glu696Ter)	NC_000005.9:g.112173377G>T	(Likely) pathogenic	1 lab	a491a9a08c
7:128486844 FLNC G>A	7	128486844	128486844	G	A	FLNC	c.4173G>A	NM_001458.4	NP_001449.3:p.(Ser1391=)	NC_000007.13:g.128486844G>A	(Likely) benign	1 lab	a491e88468
10:123247749 FGFR2 G>GT	10	123247749	123247750	G	GT	FGFR2	c.1864-123_1864-122insA	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123247749_123247750insT	(Likely) benign	1 lab	a493bb7a74
17:41228628 BRCA1 A>G	17	41228628	41228628	A	G	BRCA1	c.4361T>C	NM_007294.4	NP_009225.1:p.(Val1454Ala)	NC_000017.10:g.41228628A>G	(Likely) benign	1 lab	a493ecc4c8
16:66511577 BEAN1 C>T	16	66511577	66511577	C	T	BEAN1	c.404C>T	NM_001178020.3	NP_001171491.1:p.(Thr135Met)	NC_000016.9:g.66511577C>T	(Likely) benign	1 lab	0fdbd7a64a
10:67680300 CTNNA3 A>G	10	67680300	67680300	A	G	CTNNA3	c.2476T>C	NM_013266.3	NP_037398.2:p.(Tyr826His)	NC_000010.10:g.67680300A>G	VUS	1 lab	a497ba1e50
12:21998706 ABCC9 T>A	12	21998706	21998706	T	A	ABCC9	c.2927A>T	NM_005691.3	NP_005682.2:p.(Lys976Ile)	NC_000012.11:g.21998706T>A	VUS	1 lab	a4989fb761
12:76740834 BBS10 A>C	12	76740834	76740834	A	C	BBS10	c.931T>G	NM_024685.3	NP_078961.3:p.(Ser311Ala)	NC_000012.11:g.76740834A>C	(Likely) pathogenic	1 lab	a49a5d971c
17:41244734 BRCA1 T>G	17	41244734	41244734	T	G	BRCA1	c.2814A>C	NM_007294.4	NP_009225.1:p.(Pro938=)	NC_000017.10:g.41244734T>G	(Likely) benign	1 lab	0abf5c7bc2
18:12337519 AFG3L2 T>C	18	12337519	12337519	T	C	AFG3L2	c.1996A>G	NM_006796.2	NP_006787.2:p.(Met666Val)	NC_000018.9:g.12337519T>C	(Likely) pathogenic	1 lab	a49c127557
10:55591241 PCDH15 C>T	10	55591241	55591241	C	T	PCDH15	c.4036G>A	NM_033056.3	NP_149045.3:p.(Gly1346Arg)	NC_000010.10:g.55591241C>T	VUS	1 lab	a49c7a6a42
14:102463487 DYNC1H1 G>A	14	102463487	102463487	G	A	DYNC1H1	c.3680G>A	NM_001376.4	NP_001367.2:p.(Arg1227Gln)	NC_000014.8:g.102463487G>A	(Likely) benign	1 lab	a49f1ccfd8
1:40768276 COL9A2 C>T	1	40768276	40768276	C	T	COL9A2	c.1792+17G>A	NM_001852.3	NP_001843.1:p.?	NC_000001.10:g.40768276C>T	(Likely) benign	1 lab	a4a42963f7
10:112362950 SMC3 A>G	10	112362950	112362950	A	G	SMC3	c.3484A>G	NM_005445.4	NP_005436.1:p.(Met1162Val)	NC_000010.10:g.112362950A>G	VUS	1 lab	0ac22406c1
11:108122710 ATM T>G	11	108122710	108122710	T	G	ATM	c.1754T>G	NM_000051.4	NP_000042.3:p.(Leu585Ter)	NC_000011.9:g.108122710T>G	(Likely) pathogenic	1 lab	a4a8420c38
4:15597782 CC2D2A A>T	4	15597782	15597782	A	T	CC2D2A	c.4389A>T	NM_001080522.2	NP_001073991.2:p.(Lys1463Asn)	NC_000004.11:g.15597782A>T	VUS	1 lab	a4aa9582e9
13:48986411 LPAR6 T>C	13	48986411	48986411	T	C	LPAR6	c.149A>G	NM_005767.7	NP_005758.2:p.(Asn50Ser)	NC_000013.10:g.48986411T>C	VUS	1 lab	0ac36e8409
13:39422767 FREM2 C>T	13	39422767	39422767	C	T	FREM2	c.6339C>T	NM_207361.6	NP_997244.4:p.(Pro2113=)	NC_000013.10:g.39422767C>T	(Likely) benign	1 lab	0fde0b35a1
18:19359512 MIB1 C>T	18	19359512	19359512	C	T	MIB1	c.774C>T	NM_020774.3	NP_065825.1:p.(Leu258=)	NC_000018.9:g.19359512C>T	(Likely) benign	1 lab	a4ad2bdcf9
7:6048629 PMS2 T>G	7	6048629	6048629	T	G	PMS2	c.22A>C	NM_000535.7	NP_000526.2:p.(Ser8Arg)	NC_000007.13:g.6048629T>G	VUS	1 lab	b3187ff2d6
20:17474968 BFSP1 T>C	20	17474968	17474968	T	C	BFSP1	c.1749A>G	NM_001195.5	NP_001186.1:p.(Pro583=)	NC_000020.10:g.17474968T>C	(Likely) benign	1 lab	0ac547dc35
8:144899887 SCRIB G>A	8	144899887	144899887	G	A	SCRIB				NC_000008.10:g.144899887G>A	(Likely) pathogenic	1 lab	a4af5daa5c
2:202609008 ALS2 G>A	2	202609008	202609008	G	A	ALS2	c.2143C>T	NM_020919.3	NP_065970.2:p.(Gln715Ter)	NC_000002.11:g.202609008G>A	(Likely) pathogenic	1 lab	a4b5ee0110
19:38993379 RYR1 C>G	19	38993379	38993379	C	G	RYR1	c.7835+12C>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38993379C>G	(Likely) benign	1 lab	a4b659e28b
3:15563255 COLQ T>C	3	15563255	15563255	T	C	COLQ	c.-123A>G	NM_005677.3	NP_005668.2:p.?	NC_000003.11:g.15563255T>C	(Likely) benign	1 lab	a4b67e190f
9:372295 DOCK8 CA>C	9	372295	372297	CA	C	DOCK8	c.2109+11del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.372297del	(Likely) benign	1 lab	0fe1977567
2:26502880 HADHB A>G	2	26502880	26502880	A	G	HADHB	c.830A>G	NM_000183.2	NP_000174.1:p.(Lys277Arg)	NC_000002.11:g.26502880A>G	(Likely) benign	1 lab	a4c0df7ef4
X:7109083 STS G>A	X	7109083	7109083	G	A	STS	c.-5+34G>A	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7109083G>A	(Likely) benign	1 lab	a4c1f1ce26
17:45360896 ITGB3 T>C	17	45360896	45360896	T	C	ITGB3	c.342T>C	NM_000212.2	NP_000203.2:p.(Ile114=)	NC_000017.10:g.45360896T>C	(Likely) benign	1 lab	a4c9875e36
1:7737667 CAMTA1 A>G	1	7737667	7737667	A	G	CAMTA1	c.2788A>G	NM_015215.4	NP_056030.1:p.(Thr930Ala)	NC_000001.10:g.7737667A>G	(Likely) benign	1 lab	a4ca6687fa
3:123051413 ADCY5 C>T	3	123051413	123051413	C	T	ADCY5	c.1516G>A	NM_183357.2	NP_899200.1:p.(Ala506Thr)	NC_000003.11:g.123051413C>T	(Likely) benign	1 lab	a4ce7a3c30
2:48026688 MSH6 GACTT>G	2	48026688	48026694	GACTT	G	MSH6	c.1569_1572del	NM_000179.3	NP_000170.1:p.(Tyr524ValfsTer46)	NC_000002.11:g.48026691_48026694del	(Likely) pathogenic	1 lab	a4cebd7b16
3:37081742 MLH1 C>T	3	37081742	37081742	C	T	MLH1	c.1624C>T	NM_000249.3	NP_000240.1:p.(Gln542Ter)	NC_000003.11:g.37081742C>T	(Likely) pathogenic	1 lab	a4cec6bd9a
22:19748414 TBX1 C>T	22	19748414	19748414	C	T	TBX1	c.35-14C>T	NM_005992.1	NP_005983.1:p.?	NC_000022.10:g.19748414C>T	(Likely) benign	1 lab	a4d0023994
2:73677519 MISSING T>C	2	73677519	73677519	T	C	MISSING				NC_000002.11:g.73677519T>C	(Likely) benign	1 lab	a4d169bd1a
2:179588045 TTN G>A	2	179588045	179588045	G	A	TTN	c.21689C>T	NM_001267550.2	NP_001254479.2:p.(Ala7230Val)	NC_000002.11:g.179588045G>A	(Likely) benign	1 lab	a4d477fbcb
2:25464439 DNMT3A G>A	2	25464439	25464439	G	A	DNMT3A	c.2074C>T	NM_175629.2	NP_783328.1:p.(Gln692Ter)	NC_000002.11:g.25464439G>A	(Likely) pathogenic	1 lab	a4da201edd
21:46916462 COL18A1 A>AC	21	46916462	46916463	A	AC	COL18A1	c.2558dup	NM_001379500.1	NP_001366429.1:p.(Pro854SerfsTer10)	NC_000021.8:g.46916463dup	(Likely) pathogenic	1 lab	0ac678503e
2:47693874 MSH2 G>T	2	47693874	47693874	G	T	MSH2	c.1588G>T	NM_000251.3	NP_000242.1:p.(Glu530Ter)	NC_000002.11:g.47693874G>T	(Likely) pathogenic	1 lab	a4dea77803
5:176812815 SLC34A1 C>T	5	176812815	176812815	C	T	SLC34A1	c.73C>T	NM_003052.5	NP_003043.3:p.(Arg25Ter)	NC_000005.9:g.176812815C>T	(Likely) pathogenic	1 lab	a4e1864145
10:115340386 HABP2 T>C	10	115340386	115340386	T	C	HABP2	c.773T>C	NM_004132.5	NP_004123.1:p.(Phe258Ser)	NC_000010.10:g.115340386T>C	(Likely) pathogenic	1 lab	a4e1e9c550
2:179401892 TTN G>C	2	179401892	179401892	G	C	TTN	c.99944C>G	NM_001267550.2	NP_001254479.2:p.(Pro33315Arg)	NC_000002.11:g.179401892G>C	VUS	1 lab	a4e4192481
17:7578463 TP53 C>G	17	7578463	7578463	C	G	TP53	c.467G>C	NM_000546.5	NP_000537.3:p.(Arg156Pro)	NC_000017.10:g.7578463C>G	(Likely) pathogenic	1 lab	a4e527821e
18:25570247 CDH2 G>C	18	25570247	25570247	G	C	CDH2	c.1412C>G	NM_001792.5	NP_001783.2:p.(Ala471Gly)	NC_000018.9:g.25570247G>C	VUS	1 lab	1971eb8dee
2:179408336 TTN CA>C	2	179408336	179408337	CA	C	TTN	c.96363del	NM_001267550.2	NP_001254479.2:p.(Val32122Ter)	NC_000002.11:g.179408337del	(Likely) pathogenic	1 lab	0ac863070d
17:63533519 AXIN2 C>T	17	63533519	63533519	C	T	AXIN2	c.1635G>A	NM_004655.4	NP_004646.3:p.(Gly545=)	NC_000017.10:g.63533519C>T	(Likely) benign	1 lab	a4e6e3a723
11:68183957 LRP5 C>T	11	68183957	68183957	C	T	LRP5				NC_000011.9:g.68183957C>T	VUS	1 lab	a4ea111d03
14:53619613 DDHD1 C>T	14	53619613	53619613	C	T	DDHD1	c.204G>A	NM_001160148.2	NP_001153620.1:p.(Ala68=)	NC_000014.8:g.53619613C>T	(Likely) benign	1 lab	0fe67232c4
20:49508291 ADNP T>C	20	49508291	49508291	T	C	ADNP	c.2960A>G	NM_015339.5	NP_056154.1:p.(Asn987Ser)	NC_000020.10:g.49508291T>C	(Likely) benign	1 lab	0ac9a72b25
2:228029475 COL4A4 G>T	2	228029475	228029475	G	T	COL4A4				NC_000002.11:g.228029475G>T	(Likely) benign	1 lab	a4f377cfa6
6:31635679 CSNK2B T>C	6	31635679	31635679	T	C	CSNK2B	c.107T>C	NM_001320.5	NP_001311.3:p.(Leu36Pro)	NC_000006.11:g.31635679T>C	(Likely) pathogenic	1 lab	a4f5bb591d
2:47643501 MSH2 C>T	2	47643501	47643501	C	T	MSH2	c.1009C>T	NM_000251.2	NP_000242.1:p.(Gln337Ter)	NC_000002.11:g.47643501C>T	(Likely) pathogenic	1 lab	a4faf130c4
3:37070330 MLH1 G>T	3	37070330	37070330	G	T	MLH1	c.1465G>T	NM_000249.3	NP_000240.1:p.(Glu489Ter)	NC_000003.11:g.37070330G>T	(Likely) pathogenic	1 lab	a4fdea24d8
19:7132189 INSR T>C	19	7132189	7132189	T	C	INSR	c.2822A>G	NM_000208.4	NP_000199.2:p.(Tyr941Cys)	NC_000019.9:g.7132189T>C	VUS	1 lab	0acb93817e
9:139407452 NOTCH1 C>T	9	139407452	139407452	C	T	NOTCH1	c.2467+21G>A	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139407452C>T	(Likely) benign	1 lab	a4fdef8072
2:179428504 TTN A>T	2	179428504	179428504	A	T	TTN	c.82355T>A	NM_001267550.2	NP_001254479.2:p.(Ile27452Asn)	NC_000002.11:g.179428504A>T	(Likely) benign	1 lab	a50016870c
17:38978377 KRT10 T>C	17	38978377	38978377	T	C	KRT10	c.461A>G	NM_000421.5	NP_000412.4:p.(Asn154Ser)	NC_000017.10:g.38978377T>C	(Likely) pathogenic	1 lab	a50073ddd8
12:49448705 KMT2D G>A	12	49448705	49448705	G	A	KMT2D	c.154C>T	NM_003482.4	NP_003473.3:p.(Gln52Ter)	NC_000012.11:g.49448705G>A	(Likely) pathogenic	1 lab	a50079cf63
21:38877806 DYRK1A C>G	21	38877806	38877806	C	G	DYRK1A	c.1460C>G	NM_001396.4	NP_001387.2:p.(Thr487Arg)	NC_000021.8:g.38877806C>G	VUS	1 lab	a502e396c5
9:140695366 EHMT1 CAG>C	9	140695366	140695370	CAG	C	EHMT1	c.2645_2646del	NM_024757.5	NP_079033.4:p.(Glu882ValfsTer16)	NC_000009.11:g.140695369_140695370del	(Likely) pathogenic	1 lab	0ad3147b96
12:31238059 DDX11 A>G	12	31238059	31238059	A	G	DDX11	c.637A>G	NM_030653.4	NP_085911.2:p.(Arg213Gly)	NC_000012.11:g.31238059A>G	(Likely) benign	1 lab	0fea39378e
8:11616501 GATA4 T>C	8	11616501	11616501	T	C	GATA4	c.*517T>C	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616501T>C	(Likely) benign	1 lab	a50526e3c9
4:155529813 FGG A>C	4	155529813	155529813	A	C	FGG	c.667-11T>G	NM_000509.5	NP_000500.2:p.?	NC_000004.11:g.155529813A>C	VUS	1 lab	a505d89234
2:152355813 NEB G>T	2	152355813	152355813	G	T	NEB	c.24113C>A	NM_001164508.2	NP_001157980.2:p.(Ser8038Ter)	NC_000002.11:g.152355813G>T	(Likely) pathogenic	1 lab	a505ffdd01
3:38780971 SCN10A G>A	3	38780971	38780971	G	A	SCN10A	c.2280+35C>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38780971G>A	(Likely) benign	1 lab	a5079f8bfb
19:36322509 NPHS1 G>A	19	36322509	36322509	G	A	NPHS1	c.3286+36C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36322509G>A	(Likely) benign	1 lab	0ff5e4932c
8:94770782 TMEM67 CT>C	8	94770782	94770783	CT	C	TMEM67	c.385del	NM_153704.6	NP_714915.3:p.(Cys129ValfsTer7)	NC_000008.10:g.94770783del	(Likely) pathogenic	1 lab	a50984795e
12:110236646 TRPV4 G>A	12	110236646	110236646	G	A	TRPV4	c.925C>T	NM_021625.5	NP_067638.3:p.(His309Tyr)	NC_000012.11:g.110236646G>A	VUS	1 lab	a50c2b3f8c
6:35277470 DEF6 G>A	6	35277470	35277470	G	A	DEF6	c.120G>A	NM_022047.4	NP_071330.3:p.(Thr40=)	NC_000006.11:g.35277470G>A	(Likely) benign	1 lab	0ff8dc2061
5:112174096 APC C>G	5	112174096	112174096	C	G	APC	c.2805C>G	NM_000038.5	NP_000029.2:p.(Tyr935Ter)	NC_000005.9:g.112174096C>G	(Likely) pathogenic	1 lab	a50d150e10
2:234680925 UGT1A1 T>C	2	234680925	234680925	T	C	UGT1A1	c.1322T>C	NM_000463.3	NP_000454.1:p.(Met441Thr)	NC_000002.11:g.234680925T>C	VUS	1 lab	a50ee8ba06
21:35819063 KCNE1 T>C	21	35819063	35819063	T	C	KCNE1	c.*2480A>G	NM_000219.6	NP_000210.2:p.?	NC_000021.8:g.35819063T>C	(Likely) benign	1 lab	a5163b250e
20:3063670 AVP C>T	20	3063670	3063670	C	T	AVP	c.275G>A	NM_000490.4	NP_000481.2:p.(Cys92Tyr)	NC_000020.10:g.3063670C>T	(Likely) pathogenic	1 lab	a518611666
8:42698221 THAP1 G>A	8	42698221	42698221	G	A	THAP1	c.17C>T	NM_018105.2	NP_060575.1:p.(Ser6Phe)	NC_000008.10:g.42698221G>A	(Likely) pathogenic	1 lab	a518b8ef73
15:54307222 MISSING G>T	15	54307222	54307222	G	T	MISSING				NC_000015.9:g.54307222G>T	VUS	1 lab	a51b83298c
6:88362850 ORC3 G>T	6	88362850	88362850	G	T	ORC3	c.1399G>T	NM_181837.2	NP_862820.1:p.(Glu467Ter)	NC_000006.11:g.88362850G>T	(Likely) pathogenic	1 lab	a51df7c541
5:70948574 MCCC2 A>G	5	70948574	70948574	A	G	MCCC2	c.1567A>G	NM_022132.4	NP_071415.1:p.(Ser523Gly)	NC_000005.9:g.70948574A>G	(Likely) pathogenic	1 lab	a51e76e53b
X:100653526 GLA C>G	X	100653526	100653526	C	G	GLA	c.831G>C	NM_000169.2	NP_000160.1:p.(Trp277Cys)	NC_000023.10:g.100653526C>G	VUS	1 lab	a51ebcf685
7:116339525 MET A>T	7	116339525	116339525	A	T	MET	c.387A>T	NM_000245.4	NP_000236.2:p.(Gln129His)	NC_000007.13:g.116339525A>T	VUS	1 lab	a5225f1168
12:6691352 CHD4 C>T	12	6691352	6691352	C	T	CHD4	c.4466G>A	NM_001273.5	NP_001264.2:p.(Arg1489His)	NC_000012.11:g.6691352C>T	VUS	1 lab	a522812551
20:47865844 ZNFX1 C>T	20	47865844	47865844	C	T	ZNFX1	c.3717G>A	NM_021035.3	NP_066363.1:p.(Lys1239=)	NC_000020.10:g.47865844C>T	(Likely) benign	1 lab	0ffa00f843
2:202082355 CASP10 T>G	2	202082355	202082355	T	G	CASP10	c.1460T>G	NM_032977.3	NP_116759.2:p.(Val487Gly)	NC_000002.11:g.202082355T>G	VUS	1 lab	a5235f959b
17:60023932 MED13 G>A	17	60023932	60023932	G	A	MED13	c.6422C>T	NM_005121.3	NP_005112.2:p.(Ser2141Phe)	NC_000017.10:g.60023932G>A	VUS	1 lab	0ad35bb65b
16:89849506 FANCA T>A	16	89849506	89849506	T	A	FANCA	c.1475A>T	NM_000135.4	NP_000126.2:p.(His492Leu)	NC_000016.9:g.89849506T>A	(Likely) pathogenic	1 lab	a52407755b
17:29556193 NF1 C>T	17	29556193	29556193	C	T	NF1	c.2560C>T	NM_000267.3	NP_000258.1:p.(Gln854Ter)	NC_000017.10:g.29556193C>T	(Likely) pathogenic	1 lab	a524089890
6:2969045 SERPINB6 T>C	6	2969045	2969045	T	C	SERPINB6	c.-11+2722A>G	NM_004568.6	NP_004559.4:p.?	NC_000006.11:g.2969045T>C	(Likely) benign	1 lab	a5243da64e
1:17320301 ATP13A2 G>A	1	17320301	17320301	G	A	ATP13A2	c.1572C>T	NM_022089.4	NP_071372.1:p.(Asp524=)	NC_000001.10:g.17320301G>A	(Likely) benign	1 lab	0ad4e43caf
3:38793670 SCN10A GA>G	3	38793670	38793672	GA	G	SCN10A	c.1755+39del	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38793672del	(Likely) benign	1 lab	a5287771d8
8:145737147 RECQL4 C>T	8	145737147	145737147	C	T	RECQL4	c.3419G>A	NM_004260.4	NP_004251.4:p.(Arg1140His)	NC_000008.10:g.145737147C>T	VUS	1 lab	0ad627eeba
2:167055732 SCN9A G>A	2	167055732	167055732	G	A	SCN9A	c.5417C>T	NM_001365536.1	NP_001352465.1:p.(Ala1806Val)	NC_000002.11:g.167055732G>A	VUS	1 lab	a52b4bf09e
17:7571752 TP53 T>G	17	7571752	7571752	T	G	TP53				NC_000017.10:g.7571752T>G	(Likely) benign	1 lab	a52d16f331
13:32900355 BRCA2 A>C	13	32900355	32900355	A	C	BRCA2	c.476-24A>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900355A>C	(Likely) benign	1 lab	a52d2e58fa
4:79440467 FRAS1 A>T	4	79440467	79440467	A	T	FRAS1	c.10390-18A>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79440467A>T	(Likely) benign	1 lab	0ffd7b04dd
18:50918046 DCC A>G	18	50918046	50918046	A	G	DCC	c.2477A>G	NM_005215.4	NP_005206.2:p.(Tyr826Cys)	NC_000018.9:g.50918046A>G	VUS	1 lab	0ad72cb1da
12:112910862 PTPN11 G>C	12	112910862	112910862	G	C	PTPN11	c.853+18G>C	NM_002834.3	NP_002825.3:p.?	NC_000012.11:g.112910862G>C	(Likely) benign	1 lab	a531c87fc0
4:94750894 ATOH1 C>G	4	94750894	94750894	C	G	ATOH1	c.817C>G	NM_005172.2	NP_005163.1:p.(Arg273Gly)	NC_000004.11:g.94750894C>G	VUS	1 lab	a5341e2500
10:104592420 CYP17A1 G>C	10	104592420	104592420	G	C	CYP17A1	c.987C>G	NM_000102.3	NP_000093.1:p.(Tyr329Ter)	NC_000010.10:g.104592420G>C	(Likely) pathogenic	1 lab	a534973f29
2:222321471 MISSING G>A	2	222321471	222321471	G	A	MISSING				NC_000002.11:g.222321471G>A	VUS	1 lab	a53558a4c2
4:149357814 NR3C2 T>C	4	149357814	149357814	T	C	NR3C2	c.199A>G	NM_000901.4	NP_000892.2:p.(Lys67Glu)	NC_000004.11:g.149357814T>C	VUS	1 lab	a53788c9f8
11:128781620 KCNJ5 G>A	11	128781620	128781620	G	A	KCNJ5	c.452G>A	NM_000890.3	NP_000881.3:p.(Gly151Glu)	NC_000011.9:g.128781620G>A	(Likely) pathogenic	1 lab	a53ac6a59f
11:125769536 HYLS1 G>T	11	125769536	125769536	G	T	HYLS1	c.273G>T	NM_145014.2	NP_659451.1:p.(Lys91Asn)	NC_000011.9:g.125769536G>T	(Likely) benign	1 lab	0ffe1a7b2d
17:29557296 NF1 G>GA	17	29557296	29557298	G	GA	NF1	c.3011dup	NM_001042492.3	NP_001035957.1:p.(Asn1004LysfsTer17)	NC_000017.10:g.29557298dup	(Likely) pathogenic	1 lab	a542e7c9b4
2:197631303 GTF3C3 G>C	2	197631303	197631303	G	C	GTF3C3	c.2524C>G	NM_012086.5	NP_036218.1:p.(Pro842Ala)	NC_000002.11:g.197631303G>C	VUS	1 lab	0adb305cff
9:140711877 EHMT1 T>TA	9	140711877	140711878	T	TA	EHMT1	c.3375-14_3375-13insA	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140711877_140711878insA	(Likely) benign	1 lab	a5488f9e33
17:73221446 NUP85 A>G	17	73221446	73221446	A	G	NUP85	c.742A>G	NM_024844.5	NP_079120.1:p.(Thr248Ala)	NC_000017.10:g.73221446A>G	(Likely) benign	1 lab	0ffe4a73ca
2:96943655 SNRNP200 G>T	2	96943655	96943655	G	T	SNRNP200	c.5644C>A	NM_014014.4	NP_054733.2:p.(Pro1882Thr)	NC_000002.11:g.96943655G>T	(Likely) benign	1 lab	a54a85c45f
18:19321634 MIB1 C>T	18	19321634	19321634	C	T	MIB1	c.90C>T	NM_020774.4	NP_065825.1:p.(Asp30=)	NC_000018.9:g.19321634C>T	(Likely) benign	1 lab	0adb747e9a
19:2123867 AP3D1 G>C	19	2123867	2123867	G	C	AP3D1	c.868C>G	NM_001261826.3	NP_001248755.1:p.(Leu290Val)	NC_000019.9:g.2123867G>C	VUS	1 lab	a551ce686c
22:24145459 SMARCB1 T>G	22	24145459	24145459	T	G	SMARCB1	c.501-23T>G	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24145459T>G	(Likely) benign	1 lab	a5526f2ddc
2:165986732 SCN3A C>A	2	165986732	165986732	C	A	SCN3A	c.2640G>T	NM_006922.4	NP_008853.3:p.(Gly880=)	NC_000002.11:g.165986732C>A	(Likely) benign	1 lab	a555d61e99
11:47358975 MYBPC3 G>T	11	47358975	47358975	G	T	MYBPC3	c.2569C>A	NM_000256.3	NP_000247.2:p.(Pro857Thr)	NC_000011.9:g.47358975G>T	VUS	1 lab	a556a987a2
X:107868970 COL4A5 G>A	X	107868970	107868970	G	A	COL4A5	c.3052G>A	NM_000495.5	NP_000486.1:p.(Gly1018Ser)	NC_000023.10:g.107868970G>A	(Likely) pathogenic	1 lab	10025d62bd
17:62026763 SCN4A G>T	17	62026763	62026763	G	T	SCN4A				NC_000017.10:g.62026763G>T	(Likely) pathogenic	1 lab	a559adba9e
12:6486525 SCNN1A T>C	12	6486525	6486525	T	C	SCNN1A				NC_000012.11:g.6486525T>C	(Likely) benign	1 lab	a55ac31a87
2:220353793 SPEG C>T	2	220353793	220353793	C	T	SPEG	c.8167C>T	NM_005876.4	NP_005867.3:p.(Pro2723Ser)	NC_000002.11:g.220353793C>T	VUS	1 lab	a55d672919
11:88911182 TYR C>T	11	88911182	88911182	C	T	TYR	c.61C>T	NM_000372.4	NP_000363.1:p.(Pro21Ser)	NC_000011.9:g.88911182C>T	VUS	1 lab	a56514e6e6
14:50585480 SOS2 C>G	14	50585480	50585480	C	G	SOS2	c.3581G>C	NM_006939.4	NP_008870.2:p.(Gly1194Ala)	NC_000014.8:g.50585480C>G	VUS	1 lab	a566e462ae
8:145740627 RECQL4 C>T	8	145740627	145740627	C	T	RECQL4	c.1391-1G>A	NM_004260.3	NP_004251.3:p.?	NC_000008.10:g.145740627C>T	(Likely) pathogenic	1 lab	a56d622534
12:6128319 VWF A>C	12	6128319	6128319	A	C	VWF	c.4265T>G	NM_000552.5	NP_000543.3:p.(Leu1422Arg)	NC_000012.11:g.6128319A>C	VUS	1 lab	a56f78e510
13:32907183 BRCA2 A>T	13	32907183	32907183	A	T	BRCA2	c.1568A>T	NM_000059.3	NP_000050.2:p.(His523Leu)	NC_000013.10:g.32907183A>T	(Likely) benign	1 lab	a572e3c23f
5:149740759 TCOF1 A>G	5	149740759	149740759	A	G	TCOF1	c.149A>G	NM_001135243.1	NP_001128715.1:p.(Tyr50Cys)	NC_000005.9:g.149740759A>G	(Likely) pathogenic	1 lab	a5767bb32c
5:112174685 APC G>T	5	112174685	112174685	G	T	APC	c.3394G>T	NM_000038.5	NP_000029.2:p.(Glu1132Ter)	NC_000005.9:g.112174685G>T	(Likely) pathogenic	1 lab	a57ad6f2a3
21:39087324 KCNJ6 G>A	21	39087324	39087324	G	A	KCNJ6	c.136C>T	NM_002240.3	NP_002231.1:p.(Arg46Ter)	NC_000021.8:g.39087324G>A	(Likely) pathogenic	1 lab	a57c7a1f73
17:60651772 TLK2 G>A	17	60651772	60651772	G	A	TLK2	c.1187+1G>A	NM_001284333.1	NP_001271262.1:p.?	NC_000017.10:g.60651772G>A	(Likely) benign	1 lab	a57c95e156
17:29559090 NF1 G>A	17	29559090	29559090	G	A	NF1	c.3198-1G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559090G>A	(Likely) pathogenic	1 lab	a580e80b39
7:98592220 TRRAP A>G	7	98592220	98592220	A	G	TRRAP	c.10016A>G	NM_001244580.1	NP_001231509.1:p.(Gln3339Arg)	NC_000007.13:g.98592220A>G	VUS	1 lab	a580f1b5a7
7:158536334 ESYT2 G>A	7	158536334	158536334	G	A	ESYT2	c.1761C>T	NM_020728.2	NP_065779.1:p.(Asn587=)	NC_000007.13:g.158536334G>A	(Likely) benign	1 lab	a58158e794
8:27631990 ESCO2 G>A	8	27631990	27631990	G	A	ESCO2				NC_000008.10:g.27631990G>A	(Likely) benign	1 lab	b332fb3e77
19:15648800 CYP4F22 C>T	19	15648800	15648800	C	T	CYP4F22	c.667C>T	NM_173483.4	NP_775754.2:p.(Gln223Ter)	NC_000019.9:g.15648800C>T	(Likely) pathogenic	1 lab	a58b29a40b
12:112910765 PTPN11 G>C	12	112910765	112910765	G	C	PTPN11	c.774G>C	NM_002834.3	NP_002825.3:p.(Glu258Asp)	NC_000012.11:g.112910765G>C	(Likely) pathogenic	1 lab	a58bcc389e
10:102509528 PAX2 CG>C	10	102509528	102509535	CG	C	PAX2	c.76del	NM_003987.5	NP_003978.3:p.(Val26CysfsTer3)	NC_000010.10:g.102509535del	(Likely) pathogenic	1 lab	a58e45da5f
13:32915137 BRCA2 C>G	13	32915137	32915137	C	G	BRCA2	c.6645C>G	NM_000059.3	NP_000050.2:p.(Tyr2215Ter)	NC_000013.10:g.32915137C>G	(Likely) pathogenic	1 lab	a58e6ad7ab
7:156759039 NOM1 C>A	7	156759039	156759039	C	A	NOM1	c.2109C>A	NM_138400.1	NP_612409.1:p.(Tyr703Ter)	NC_000007.13:g.156759039C>A	VUS	1 lab	a59021a79a
1:207956559 CD46 G>A	1	207956559	207956559	G	A	CD46	c.989-78G>A	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207956559G>A	(Likely) pathogenic	1 lab	a5966c131f
2:73828026 MISSING G>A	2	73828026	73828026	G	A	MISSING				NC_000002.11:g.73828026G>A	(Likely) benign	1 lab	a5969a60ae
16:68856014 CDH1 A>T	16	68856014	68856014	A	T	CDH1	c.1822A>T	NM_004360.3	NP_004351.1:p.(Lys608Ter)	NC_000016.9:g.68856014A>T	(Likely) pathogenic	1 lab	a596d9e2ec
12:88890671 KITLG A>G	12	88890671	88890671	A	G	KITLG	c.*325T>C	NM_000899.4	NP_000890.1:p.?	NC_000012.11:g.88890671A>G	(Likely) benign	1 lab	a598448137
11:125769354 HYLS1 T>C	11	125769354	125769354	T	C	HYLS1	c.91T>C	NM_001134793.2	NP_001128265.1:p.(Cys31Arg)	NC_000011.9:g.125769354T>C	(Likely) benign	1 lab	0ade6c4cd4
19:42479904 ATP1A3 C>T	19	42479904	42479904	C	T	ATP1A3				NC_000019.9:g.42479904C>T	VUS	1 lab	b3339588d7
18:53018188 TCF4 AG>A	18	53018188	53018191	AG	A	TCF4	c.415del	NM_001083962.2	NP_001077431.1:p.(Leu139PhefsTer95)	NC_000018.9:g.53018191del	(Likely) pathogenic	1 lab	0adf07c4cd
7:143017753 CLCN1 C>T	7	143017753	143017753	C	T	CLCN1	c.302-4C>T	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143017753C>T	(Likely) benign	1 lab	a5a6e8962c
2:220022327 NHEJ1 T>A	2	220022327	220022327	T	A	NHEJ1	c.257A>T	NM_024782.3	NP_079058.1:p.(Asp86Val)	NC_000002.11:g.220022327T>A	VUS	1 lab	0ae20523e6
9:2718056 KCNV2 ACAGCTAC>A	9	2718056	2718068	ACAGCTAC	A	KCNV2	c.323_329del	NM_133497.3	NP_598004.1:p.(Tyr108TrpfsTer14)	NC_000009.11:g.2718062_2718068del	(Likely) pathogenic	1 lab	a5a81df198
13:46559431 ZC3H13 C>T	13	46559431	46559431	C	T	ZC3H13	c.1720+1G>A	NM_015070.4	NP_055885.3:p.?	NC_000013.10:g.46559431C>T	VUS	1 lab	a5a85dde89
21:34018741 SYNJ1 C>T	21	34018741	34018741	C	T	SYNJ1	c.3326G>A	NM_003895.3	NP_003886.3:p.(Arg1109Gln)	NC_000021.8:g.34018741C>T	VUS	1 lab	0ae2691ec8
2:73716810 ALMS1 G>A	2	73716810	73716810	G	A	ALMS1	c.7727G>A	NM_015120.4	NP_055935.4:p.(Ser2576Asn)	NC_000002.11:g.73716810G>A	(Likely) benign	1 lab	a5a9de4d07
2:233410253 CHRNG G>A	2	233410253	233410253	G	A	CHRNG				NC_000002.11:g.233410253G>A	VUS	1 lab	a5abe993ee
6:47575772 CD2AP G>T	6	47575772	47575772	G	T	CD2AP	c.1632+8G>T	NM_012120.2	NP_036252.1:p.?	NC_000006.11:g.47575772G>T	(Likely) benign	1 lab	a5ad8d91a7
17:29530016 NF1 A>G	17	29530016	29530016	A	G	NF1	c.1260+1513A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29530016A>G	(Likely) benign	1 lab	a5afa093f4
8:41791234 KAT6A C>T	8	41791234	41791234	C	T	KAT6A	c.4504G>A	NM_006766.5	NP_006757.2:p.(Val1502Met)	NC_000008.10:g.41791234C>T	(Likely) benign	1 lab	0ae326010e
10:26377316 MYO3A G>A	10	26377316	26377316	G	A	MYO3A	c.1544G>A	NM_017433.4	NP_059129.3:p.(Arg515Gln)	NC_000010.10:g.26377316G>A	VUS	1 lab	a5b2b7aafe
7:150655121 KCNH2 C>A	7	150655121	150655121	C	A	KCNH2	c.916+26G>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150655121C>A	(Likely) benign	1 lab	a5b3de9bf0
1:241676903 FH C>G	1	241676903	241676903	C	G	FH	c.378G>C	NM_000143.3	NP_000134.2:p.(Glu126Asp)	NC_000001.10:g.241676903C>G	(Likely) pathogenic	1 lab	a5b81ea042
6:44275067 AARS2 G>A	6	44275067	44275067	G	A	AARS2				NC_000006.11:g.44275067G>A	(Likely) pathogenic	1 lab	a5bb290b7b
12:13761570 GRIN2B A>T	12	13761570	13761570	A	T	GRIN2B	c.1977T>A	NM_000834.3	NP_000825.2:p.(Tyr659Ter)	NC_000012.11:g.13761570A>T	(Likely) pathogenic	1 lab	a5cf019168
15:89860605 POLG A>G	15	89860605	89860605	A	G	POLG	c.3643+2T>C	NM_002693.2	NP_002684.1:p.?	NC_000015.9:g.89860605A>G	(Likely) pathogenic	1 lab	a5d4087bf3
2:166211058 SCN2A CAT>C	2	166211058	166211060	CAT	C	SCN2A	c.3277_3278del	NM_001040142.2	NP_001035232.1:p.(Met1093ValfsTer7)	NC_000002.11:g.166211059_166211060del	(Likely) pathogenic	1 lab	a5d63bea18
16:55513331 MMP2 G>C	16	55513331	55513331	G	C	MMP2	c.-61G>C	NM_004530.4	NP_004521.1:p.?	NC_000016.9:g.55513331G>C	(Likely) benign	1 lab	a5d64d6bee
1:94544185 ABCA4 C>G	1	94544185	94544185	C	G	ABCA4	c.1317G>C	NM_000350.2	NP_000341.2:p.(Trp439Cys)	NC_000001.10:g.94544185C>G	VUS	1 lab	a5d780e545
8:86389495 CA2 C>T	8	86389495	86389495	C	T	CA2	c.654C>T	NM_000067.3	NP_000058.1:p.(Ser218=)	NC_000008.10:g.86389495C>T	(Likely) benign	1 lab	100a02a2df
9:134398534 POMT1 T>C	9	134398534	134398534	T	C	POMT1	c.*41T>C	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134398534T>C	(Likely) benign	1 lab	a5da02f8f0
3:38595871 SCN5A A>C	3	38595871	38595871	A	C	SCN5A	c.4712T>G	NM_198056.3	NP_932173.1:p.(Phe1571Cys)	NC_000003.11:g.38595871A>C	VUS	1 lab	0ae6a53a5c
13:52532510 ATP7B G>A	13	52532510	52532510	G	A	ATP7B	c.2292C>T	NM_000053.4	NP_000044.2:p.(Phe764=)	NC_000013.10:g.52532510G>A	VUS	1 lab	100b2d8872
12:103288545 PAH T>G	12	103288545	103288545	T	G	PAH	c.320A>C	NM_000277.3	NP_000268.1:p.(His107Pro)	NC_000012.11:g.103288545T>G	(Likely) pathogenic	1 lab	100dc14ff1
2:215593551 BARD1 G>A	2	215593551	215593551	G	A	BARD1	c.2183C>T	NM_000465.2	NP_000456.2:p.(Ser728Phe)	NC_000002.11:g.215593551G>A	VUS	1 lab	a5f1de0655
7:151478434 PRKAG2 A>T	7	151478434	151478434	A	T	PRKAG2	c.270T>A	NM_016203.3	NP_057287.2:p.(Ser90=)	NC_000007.13:g.151478434A>T	VUS	1 lab	a5f79d0bb5
1:156100524 LMNA T>C	1	156100524	156100524	T	C	LMNA	c.473T>C	NM_170707.4	NP_733821.1:p.(Leu158Pro)	NC_000001.10:g.156100524T>C	(Likely) pathogenic	1 lab	0aedee7219
11:2610003 KCNQ1 C>T	11	2610003	2610003	C	T	KCNQ1	c.1312C>T	NM_000218.2	NP_000209.2:p.(Leu438Phe)	NC_000011.9:g.2610003C>T	(Likely) benign	1 lab	a5fc1fdbdc
16:2161822 PKD1 G>A	16	2161822	2161822	G	A	PKD1	c.3346C>T	NM_001009944.2	NP_001009944.2:p.(Gln1116Ter)	NC_000016.9:g.2161822G>A	(Likely) pathogenic	1 lab	100e05d64b
2:32352087 SPAST T>C	2	32352087	32352087	T	C	SPAST	c.1169T>C	NM_014946.4	NP_055761.2:p.(Met390Thr)	NC_000002.11:g.32352087T>C	(Likely) pathogenic	1 lab	a5fe3b8351
15:28117068 OCA2 C>T	15	28117068	28117068	C	T	OCA2	c.2080G>A	NM_000275.3	NP_000266.2:p.(Ala694Thr)	NC_000015.9:g.28117068C>T	VUS	1 lab	a600144f6c
3:164772976 SI A>G	3	164772976	164772976	A	G	SI	c.1512+6T>C	NM_001041.4	NP_001032.2:p.?	NC_000003.11:g.164772976A>G	(Likely) pathogenic	1 lab	a6038999ea
6:32008262 TNXB G>A	6	32008262	32008262	G	A	TNXB				NC_000006.11:g.32008262G>A	VUS	1 lab	a606f037cd
1:17349090 SDHB C>T	1	17349090	17349090	C	T	SDHB	c.765+13G>A	NM_003000.2	NP_002991.2:p.?	NC_000001.10:g.17349090C>T	(Likely) benign	1 lab	a6082bb40c
X:6069248 NLGN4X C>T	X	6069248	6069248	C	T	NLGN4X	c.260G>A	NM_001282145.1	NP_001269074.1:p.(Arg87Gln)	NC_000023.10:g.6069248C>T	VUS	1 lab	a6086e6ad6
19:33984219 PEPD T>A	19	33984219	33984219	T	A	PEPD	c.418A>T	NM_000285.3	NP_000276.2:p.(Lys140Ter)	NC_000019.9:g.33984219T>A	(Likely) pathogenic	1 lab	a60b022cbe
X:18662655 RS1 CT>C	X	18662655	18662656	CT	C	RS1	c.416del	NM_000330.3	NP_000321.1:p.(Gln139ArgfsTer10)	NC_000023.10:g.18662656del	(Likely) pathogenic	1 lab	a60fe40ba4
2:166011006 SCN3A G>T	2	166011006	166011006	G	T	SCN3A	c.1336C>A	NM_006922.4	NP_008853.3:p.(Gln446Lys)	NC_000002.11:g.166011006G>T	(Likely) benign	1 lab	a6106dc912
12:6061681 VWF T>G	12	6061681	6061681	T	G	VWF	c.7991A>C	NM_000552.3	NP_000543.2:p.(Asp2664Ala)	NC_000012.11:g.6061681T>G	(Likely) benign	1 lab	a61477a3e9
11:76890799 MYO7A C>G	11	76890799	76890799	C	G	MYO7A	c.2386C>G	NM_000260.3	NP_000251.3:p.(Arg796Gly)	NC_000011.9:g.76890799C>G	VUS	1 lab	a6157b8201
X:107834321 COL4A5 G>T	X	107834321	107834321	G	T	COL4A5	c.1199G>T	NM_033380.2	NP_203699.1:p.(Gly400Val)	NC_000023.10:g.107834321G>T	(Likely) pathogenic	1 lab	a6186c1a32
7:6035161 PMS2 A>T	7	6035161	6035161	A	T	PMS2	c.903+4T>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6035161A>T	(Likely) benign	1 lab	a6198c5164
4:103488174 NFKB1 A>G	4	103488174	103488174	A	G	NFKB1	c.289A>G	NM_003998.4	NP_003989.2:p.(Ile97Val)	NC_000004.11:g.103488174A>G	VUS	1 lab	a61d41d110
1:120548149 NOTCH2 CA>C	1	120548149	120548150	CA	C	NOTCH2	c.217del	NM_024408.4	NP_077719.2:p.(Cys73AlafsTer44)	NC_000001.10:g.120548150del	VUS	1 lab	a629101554
9:139265801 CARD9 C>T	9	139265801	139265801	C	T	CARD9	c.297G>A	NM_052813.4	NP_434700.2:p.(Pro99=)	NC_000009.11:g.139265801C>T	(Likely) benign	1 lab	10120b115f
22:25627584 CRYBB2 C>T	22	25627584	25627584	C	T	CRYBB2	c.463C>T	NM_000496.2	NP_000487.1:p.(Gln155Ter)	NC_000022.10:g.25627584C>T	(Likely) pathogenic	1 lab	a62e0f6b9d
21:35166705 ITSN1 C>T	21	35166705	35166705	C	T	ITSN1	c.1885C>T	NM_003024.3	NP_003015.2:p.(Arg629Ter)	NC_000021.8:g.35166705C>T	VUS	1 lab	a62fd6ebcb
11:47373021 MYBPC3 C>T	11	47373021	47373021	C	T	MYBPC3	c.61G>A	NM_000256.3	NP_000247.2:p.(Val21Met)	NC_000011.9:g.47373021C>T	VUS	1 lab	a6371cbbbe
11:117698762 FXYD2 G>A	11	117698762	117698762	G	A	FXYD2				NC_000011.9:g.117698762G>A	(Likely) benign	1 lab	a6372d436d
20:34022145 GDF5 A>T	20	34022145	34022145	A	T	GDF5	c.1068T>A	NM_001319138.1	NP_001306067.1:p.(Asn356Lys)	NC_000020.10:g.34022145A>T	VUS	1 lab	a63786f25d
8:61764676 CHD7 C>T	8	61764676	61764676	C	T	CHD7	c.5764C>T	NM_017780.3	NP_060250.2:p.(Arg1922Cys)	NC_000008.10:g.61764676C>T	(Likely) benign	1 lab	a639e5d5bf
16:31499080 SLC5A2 G>C	16	31499080	31499080	G	C	SLC5A2	c.885G>C	NM_003041.4	NP_003032.1:p.(Gln295His)	NC_000016.9:g.31499080G>C	VUS	1 lab	a63c0f67c1
15:31330280 TRPM1 A>G	15	31330280	31330280	A	G	TRPM1	c.2340T>C	NM_002420.5	NP_002411.3:p.(Asn780=)	NC_000015.9:g.31330280A>G	(Likely) benign	1 lab	a63d3d9dc1
3:4829776 ITPR1 G>A	3	4829776	4829776	G	A	ITPR1	c.6761G>A	NM_001378452.1	NP_001365381.1:p.(Arg2254Gln)	NC_000003.11:g.4829776G>A	VUS	1 lab	a642bd1694
12:6128332 VWF GC>G	12	6128332	6128335	GC	G	VWF	c.4251del	NM_000552.3	NP_000543.2:p.(His1419MetfsTer22)	NC_000012.11:g.6128335del	(Likely) pathogenic	1 lab	a6486d5b31
16:68772316 CDH1 T>A	16	68772316	68772316	T	A	CDH1	c.163+2T>A	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68772316T>A	(Likely) pathogenic	1 lab	a64a5b9719
21:47423477 COL6A1 C>T	21	47423477	47423477	C	T	COL6A1	c.2637C>T	NM_001848.2	NP_001839.2:p.(Ser879=)	NC_000021.8:g.47423477C>T	(Likely) benign	1 lab	a64c98a7a5
17:41226570 BRCA1 G>A	17	41226570	41226570	G	A	BRCA1	c.4485-32C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41226570G>A	(Likely) benign	1 lab	a64cb83739
14:51096605 ATL1 G>GTTCTT	14	51096605	51096610	G	GTTCTT	ATL1	c.1552-104_1552-103insTTTCT	NM_015915.4	NP_056999.2:p.?	NC_000014.8:g.51096609_51096610insTTTCT	(Likely) benign	1 lab	a6507204b6
8:61763618 CHD7 C>T	8	61763618	61763618	C	T	CHD7				NC_000008.10:g.61763618C>T	(Likely) benign	1 lab	101876cc8c
1:200619654 DDX59 T>C	1	200619654	200619654	T	C	DDX59	c.1213A>G	NM_001031725.5	NP_001026895.2:p.(Ile405Val)	NC_000001.10:g.200619654T>C	(Likely) benign	1 lab	1019d8c24b
15:25605724 UBE3A G>GA	15	25605724	25605731	G	GA	UBE3A	c.1618-51dup	NM_000462.5	NP_000453.2:p.?	NC_000015.9:g.25605731dup	(Likely) benign	1 lab	a9908a285e
11:823586 PNPLA2 C>G	11	823586	823586	C	G	PNPLA2	c.756C>G	NM_020376.4	NP_065109.1:p.(Asn252Lys)	NC_000011.9:g.823586C>G	(Likely) benign	1 lab	101e334d26
2:48027393 MSH6 C>T	2	48027393	48027393	C	T	MSH6	c.2271C>T	NM_000179.3	NP_000170.1:p.(Thr757=)	NC_000002.11:g.48027393C>T	(Likely) benign	1 lab	a65d0f7253
17:41245316 BRCA1 A>C	17	41245316	41245316	A	C	BRCA1	c.2232T>G	NM_007294.4	NP_009225.1:p.(Ala744=)	NC_000017.10:g.41245316A>C	(Likely) benign	1 lab	a65d5bc4b9
X:153295908 MECP2 C>G	X	153295908	153295908	C	G	MECP2	c.1371G>C	NM_004992.3	NP_004983.1:p.(Glu457Asp)	NC_000023.10:g.153295908C>G	VUS	1 lab	a65ed65aa7
7:2987302 CARD11 T>G	7	2987302	2987302	T	G	CARD11	c.127A>C	NM_032415.5	NP_115791.3:p.(Thr43Pro)	NC_000007.13:g.2987302T>G	(Likely) pathogenic	1 lab	a65f1695d0
15:63349096 TPM1 G>A	15	63349096	63349096	G	A	TPM1	c.241-88G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63349096G>A	(Likely) benign	1 lab	a66302a078
3:38770395 SCN10A G>A	3	38770395	38770395	G	A	SCN10A	c.2281-3C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38770395G>A	(Likely) benign	1 lab	a6633f9e5e
7:117232638 CFTR A>G	7	117232638	117232638	A	G	CFTR	c.2417A>G	NM_000492.4	NP_000483.3:p.(Asp806Gly)	NC_000007.13:g.117232638A>G	VUS	1 lab	a663629166
2:179416428 TTN T>A	2	179416428	179416428	T	A	TTN	c.91199A>T	NM_001267550.1	NP_001254479.1:p.(Tyr30400Phe)	NC_000002.11:g.179416428T>A	(Likely) benign	1 lab	a666a1af7c
2:145157774 ZEB2 G>T	2	145157774	145157774	G	T	ZEB2	c.980C>A	NM_014795.3	NP_055610.1:p.(Ser327Ter)	NC_000002.11:g.145157774G>T	(Likely) pathogenic	1 lab	a66824059b
11:46751059 F2 G>A	11	46751059	46751059	G	A	F2	c.1602G>A	NM_000506.3	NP_000497.1:p.(Pro534=)	NC_000011.9:g.46751059G>A	(Likely) benign	1 lab	a669be38dd
16:30740767 SRCAP C>G	16	30740767	30740767	C	G	SRCAP	c.6001C>G	NM_006662.2	NP_006653.2:p.(Pro2001Ala)	NC_000016.9:g.30740767C>G	VUS	1 lab	a66cc8d9c2
1:152278814 FLG C>T	1	152278814	152278814	C	T	FLG	c.8548G>A	NM_002016.1	NP_002007.1:p.(Gly2850Ser)	NC_000001.10:g.152278814C>T	(Likely) benign	1 lab	a66ead3ee9
3:14172325 TMEM43 C>T	3	14172325	14172325	C	T	TMEM43	c.166C>T	NM_024334.2	NP_077310.1:p.(Arg56Cys)	NC_000003.11:g.14172325C>T	VUS	1 lab	a66ec2795c
16:23614985 PALB2 A>G	16	23614985	23614985	A	G	PALB2	c.3356T>C	NM_024675.3	NP_078951.2:p.(Leu1119Pro)	NC_000016.9:g.23614985A>G	VUS	1 lab	a67215c403
15:73615564 HCN4 T>G	15	73615564	73615564	T	G	HCN4	c.2870A>C	NM_005477.2	NP_005468.1:p.(His957Pro)	NC_000015.9:g.73615564T>G	VUS	1 lab	a672fca2a5
1:155260413 PKLR G>A	1	155260413	155260413	G	A	PKLR	c.1675C>T	NM_000298.6	NP_000289.1:p.(Arg559Ter)	NC_000001.10:g.155260413G>A	(Likely) pathogenic	1 lab	101fafb7a0
5:112175271 APC C>G	5	112175271	112175271	C	G	APC	c.3980C>G	NM_000038.6	NP_000029.2:p.(Ser1327Ter)	NC_000005.9:g.112175271C>G	(Likely) pathogenic	1 lab	a6799cc2e6
2:105472039 POU3F3 C>A	2	105472039	105472039	C	A	POU3F3	c.71C>A	NM_006236.2	NP_006227.1:p.(Ser24Ter)	NC_000002.11:g.105472039C>A	(Likely) pathogenic	1 lab	a67c120014
2:165970376 SCN3A A>G	2	165970376	165970376	A	G	SCN3A	c.3619T>C	NM_006922.3	NP_008853.3:p.(Trp1207Arg)	NC_000002.11:g.165970376A>G	VUS	1 lab	a6814e2c04
3:38765036 SCN10A G>A	3	38765036	38765036	G	A	SCN10A	c.3237C>T	NM_006514.3	NP_006505.3:p.(Asp1079=)	NC_000003.11:g.38765036G>A	(Likely) benign	1 lab	a681b339bf
1:158619644 SPTA1 A>G	1	158619644	158619644	A	G	SPTA1	c.3569+2T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158619644A>G	(Likely) pathogenic	1 lab	38f1fa1145
2:69586458 GFPT1 T>A	2	69586458	69586458	T	A	GFPT1	c.350A>T	NM_001244710.2	NP_001231639.1:p.(Glu117Val)	NC_000002.11:g.69586458T>A	VUS	1 lab	a684db0add
16:28895922 ATP2A1 C>T	16	28895922	28895922	C	T	ATP2A1	c.490C>T	NM_004320.4	NP_004311.1:p.(Arg164Ter)	NC_000016.9:g.28895922C>T	(Likely) pathogenic	1 lab	a684fb0339
X:44929302 KDM6A A>G	X	44929302	44929302	A	G	KDM6A	c.2402A>G	NM_021140.2	NP_066963.2:p.(Asn801Ser)	NC_000023.10:g.44929302A>G	VUS	1 lab	a689580f09
10:89692794 PTEN A>G	10	89692794	89692794	A	G	PTEN	c.278A>G	NM_000314.4	NP_000305.3:p.(His93Arg)	NC_000010.10:g.89692794A>G	(Likely) pathogenic	1 lab	a68a4723c0
11:108163486 ATM C>T	11	108163486	108163486	C	T	ATM	c.4577C>T	NM_000051.3	NP_000042.3:p.(Pro1526Leu)	NC_000011.9:g.108163486C>T	VUS	1 lab	a68a58e4b7
1:237617718 RYR2 G>A	1	237617718	237617718	G	A	RYR2	c.1320G>A	NM_001035.3	NP_001026.2:p.(Ala440=)	NC_000001.10:g.237617718G>A	(Likely) benign	1 lab	0af747d646
3:50329794 IFRD2 G>C	3	50329794	50329794	G	C	IFRD2	c.104C>G	NM_006764.4	NP_006755.4:p.(Ser35Ter)	NC_000003.11:g.50329794G>C	VUS	1 lab	a68cf801cb
5:56171018 MAP3K1 G>A	5	56171018	56171018	G	A	MAP3K1	c.1846G>A	NM_005921.1	NP_005912.1:p.(Gly616Arg)	NC_000005.9:g.56171018G>A	(Likely) benign	1 lab	a68d068a15
10:8097368 GATA3 G>A	10	8097368	8097368	G	A	GATA3	c.-251G>A	NM_001002295.1	NP_001002295.1:p.?	NC_000010.10:g.8097368G>A	(Likely) benign	1 lab	a68d5342d0
3:101023120 IMPG2 A>G	3	101023120	101023120	A	G	IMPG2	c.371T>C	NM_016247.4	NP_057331.2:p.(Phe124Ser)	NC_000003.11:g.101023120A>G	VUS	1 lab	a68fee6440
2:74603891 DCTN1 T>C	2	74603891	74603891	T	C	DCTN1	c.394-2A>G	NM_004082.4	NP_004073.2:p.?	NC_000002.11:g.74603891T>C	VUS	1 lab	b911c9f8ad
12:7053058 ATN1 C>T	12	7053058	7053058	C	T	ATN1				NC_000012.11:g.7053058C>T	(Likely) benign	1 lab	0af93295e4
2:86509310 REEP1 T>G	2	86509310	86509310	T	G	REEP1	c.88A>C	NM_022912.2	NP_075063.1:p.(Lys30Gln)	NC_000002.11:g.86509310T>G	(Likely) benign	1 lab	a698183d00
7:79840317 GNAI1 G>A	7	79840317	79840317	G	A	GNAI1	c.623G>A	NM_002069.6	NP_002060.4:p.(Arg208Gln)	NC_000007.13:g.79840317G>A	VUS	1 lab	a69e27fb79
17:38975768 KRT10 C>T	17	38975768	38975768	C	T	KRT10	c.1373+1G>A	NM_000421.3	NP_000412.3:p.?	NC_000017.10:g.38975768C>T	(Likely) pathogenic	1 lab	a69ea95fcd
20:3063769 AVP C>T	20	3063769	3063769	C	T	AVP	c.176G>A	NM_000490.4	NP_000481.2:p.(Cys59Tyr)	NC_000020.10:g.3063769C>T	(Likely) pathogenic	1 lab	a6a0ff183e
14:23894549 MYH7 G>C	14	23894549	23894549	G	C	MYH7	c.2365C>G	NM_000257.4	NP_000248.2:p.(Gln789Glu)	NC_000014.8:g.23894549G>C	(Likely) pathogenic	1 lab	a6a98c29cf
3:38991548 SCN11A ACCCCCACCCCCACCCCC>A	3	38991548	38991570	ACCCCCACCCCCACCCCC	A	SCN11A	c.267+22_267+38del	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38991554_38991570del	(Likely) benign	1 lab	a6ad193718
15:99440106 IGF1R C>T	15	99440106	99440106	C	T	IGF1R	c.1074C>T	NM_000875.4	NP_000866.1:p.(Gly358=)	NC_000015.9:g.99440106C>T	(Likely) pathogenic	1 lab	a6af8f14aa
11:93408831 CEP295 G>A	11	93408831	93408831	G	A	CEP295	c.623G>A	NM_033395.1	NP_203753.1:p.(Arg208Gln)	NC_000011.9:g.93408831G>A	(Likely) benign	1 lab	a6b0e88f52
6:111696466 REV3L G>A	6	111696466	111696466	G	A	REV3L	c.3092C>T	NM_002912.5	NP_002903.3:p.(Pro1031Leu)	NC_000006.11:g.111696466G>A	VUS	1 lab	0aff03fe66
10:89725043 PTEN G>C	10	89725043	89725043	G	C	PTEN	c.1027-1G>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89725043G>C	(Likely) pathogenic	1 lab	a6b3bd0984
5:14358422 TRIO A>G	5	14358422	14358422	A	G	TRIO				NC_000005.9:g.14358422A>G	(Likely) benign	1 lab	ba4f29c0b7
16:23646705 PALB2 G>T	16	23646705	23646705	G	T	PALB2	c.1162C>A	NM_024675.3	NP_078951.2:p.(Pro388Thr)	NC_000016.9:g.23646705G>T	(Likely) benign	1 lab	a6b728c9bf
1:228505602 OBSCN C>T	1	228505602	228505602	C	T	OBSCN	c.16730C>T	NM_001271223.2	NP_001258152.2:p.(Pro5577Leu)	NC_000001.10:g.228505602C>T	(Likely) benign	1 lab	a6bb1d7f28
8:143995743 CYP11B2 C>T	8	143995743	143995743	C	T	CYP11B2	c.891G>A	NM_000498.3	NP_000489.3:p.(Ala297=)	NC_000008.10:g.143995743C>T	(Likely) benign	1 lab	a6bb6be263
8:38285474 FGFR1 C>A	8	38285474	38285474	C	A	FGFR1	c.586G>T	NM_023110.2	NP_075598.2:p.(Glu196Ter)	NC_000008.10:g.38285474C>A	(Likely) pathogenic	1 lab	a6bb7f9a4f
1:241663828 FH G>A	1	241663828	241663828	G	A	FH	c.1299C>T	NM_000143.4	NP_000134.2:p.(Asn433=)	NC_000001.10:g.241663828G>A	(Likely) benign	1 lab	a6bc18f8ae
3:9788005 BRPF1 C>T	3	9788005	9788005	C	T	BRPF1	c.3346C>T	NM_001003694.2	NP_001003694.1:p.(Arg1116Ter)	NC_000003.11:g.9788005C>T	(Likely) pathogenic	1 lab	a6be6d0e17
6:7230877 RREB1 G>T	6	7230877	7230877	G	T	RREB1	c.2545G>T	NM_001003699.4	NP_001003699.1:p.(Gly849Cys)	NC_000006.11:g.7230877G>T	VUS	1 lab	0b035f4267
6:105609321 POPDC3 A>T	6	105609321	105609321	A	T	POPDC3	c.464T>A	NM_022361.5	NP_071756.2:p.(Leu155His)	NC_000006.11:g.105609321A>T	(Likely) pathogenic	1 lab	a6bf33eb60
X:30671738 GK C>G	X	30671738	30671738	C	G	GK	c.78+6C>G	NM_000167.6	NP_000158.1:p.?	NC_000023.10:g.30671738C>G	(Likely) benign	1 lab	0b060f766a
17:63532613 AXIN2 G>A	17	63532613	63532613	G	A	AXIN2	c.1966C>T	NM_004655.3	NP_004646.3:p.(Arg656Ter)	NC_000017.10:g.63532613G>A	(Likely) pathogenic	1 lab	1028713ee9
10:90530660 LIPN C>A	10	90530660	90530660	C	A	LIPN	c.731C>A	NM_001102469.2	NP_001095939.1:p.(Thr244Asn)	NC_000010.10:g.90530660C>A	(Likely) benign	1 lab	0b0620c83e
20:46262263 NCOA3 A>G	20	46262263	46262263	A	G	NCOA3	c.847A>G	NM_181659.3	NP_858045.1:p.(Asn283Asp)	NC_000020.10:g.46262263A>G	(Likely) benign	1 lab	a6c6492d0a
3:10183786 VHL GC>G	3	10183786	10183789	GC	G	VHL	c.258del	NM_000551.3	NP_000542.1:p.(Val87TyrfsTer72)	NC_000003.11:g.10183789del	(Likely) pathogenic	1 lab	a6c70e4e9f
4:79187832 FRAS1 G>A	4	79187832	79187832	G	A	FRAS1	c.688-156G>A	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79187832G>A	(Likely) benign	1 lab	1028a04bdc
12:102158735 GNPTAB T>C	12	102158735	102158735	T	C	GNPTAB	c.1960A>G	NM_024312.4	NP_077288.2:p.(Ser654Gly)	NC_000012.11:g.102158735T>C	VUS	1 lab	a6d5bafe3e
7:116397572 MET A>G	7	116397572	116397572	A	G	MET	c.1944A>G	NM_000245.2	NP_000236.2:p.(Gln648=)	NC_000007.13:g.116397572A>G	(Likely) benign	1 lab	a6d65ec22d
2:47643434 MSH2 G>C	2	47643434	47643434	G	C	MSH2	c.943-1G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47643434G>C	(Likely) pathogenic	1 lab	a6d67d1c9e
16:3297065 MEFV A>G	16	3297065	3297065	A	G	MEFV	c.1538T>C	NM_000243.2	NP_000234.1:p.(Ile513Thr)	NC_000016.9:g.3297065A>G	VUS	1 lab	102d9b95dd
19:39191323 ACTN4 C>T	19	39191323	39191323	C	T	ACTN4	c.246C>T	NM_004924.4	NP_004915.2:p.(Leu82=)	NC_000019.9:g.39191323C>T	(Likely) benign	1 lab	a6d824d930
10:102566298 PAX2 G>A	10	102566298	102566298	G	A	PAX2	c.728G>A	NM_003988.5	NP_003979.2:p.(Arg243Gln)	NC_000010.10:g.102566298G>A	(Likely) benign	1 lab	102faa7b25
12:21918664 KCNJ8 T>C	12	21918664	21918664	T	C	KCNJ8	c.1268A>G	NM_004982.3	NP_004973.1:p.(Glu423Gly)	NC_000012.11:g.21918664T>C	VUS	1 lab	a6e1567eae
3:189582169 TP63 G>A	3	189582169	189582169	G	A	TP63	c.728G>A	NM_003722.4	NP_003713.3:p.(Arg243Gln)	NC_000003.11:g.189582169G>A	(Likely) pathogenic	1 lab	a6e1ec0b9d
3:49162284 LAMB2 C>T	3	49162284	49162284	C	T	LAMB2	c.2959G>A	NM_002292.3	NP_002283.3:p.(Glu987Lys)	NC_000003.11:g.49162284C>T	(Likely) benign	1 lab	a6e2e32b05
5:13876793 DNAH5 C>G	5	13876793	13876793	C	G	DNAH5	c.3396G>C	NM_001369.3	NP_001360.1:p.(Lys1132Asn)	NC_000005.9:g.13876793C>G	VUS	1 lab	a6e4303fc0
1:207963588 CD46 C>T	1	207963588	207963588	C	T	CD46				NC_000001.10:g.207963588C>T	(Likely) benign	1 lab	a6e6b1ef3c
X:70349931 MED12 A>G	X	70349931	70349931	A	G	MED12	c.3914A>G	NM_005120.2	NP_005111.2:p.(Asn1305Ser)	NC_000023.10:g.70349931A>G	VUS	1 lab	a6ea8b4799
8:61734586 CHD7 C>T	8	61734586	61734586	C	T	CHD7	c.2839C>T	NM_017780.3	NP_060250.2:p.(Arg947Ter)	NC_000008.10:g.61734586C>T	(Likely) pathogenic	1 lab	a6eb2b9122
19:13345735 CACNA1A C>T	19	13345735	13345735	C	T	CACNA1A	c.5252G>A	NM_001127221.2	NP_001120693.1:p.(Arg1751Gln)	NC_000019.9:g.13345735C>T	(Likely) pathogenic	1 lab	a6f5732c9f
22:19748563 TBX1 C>T	22	19748563	19748563	C	T	TBX1	c.170C>T	NM_080647.1	NP_542378.1:p.(Ala57Val)	NC_000022.10:g.19748563C>T	(Likely) benign	1 lab	a6f643afd1
9:109687938 ZNF462 C>G	9	109687938	109687938	C	G	ZNF462	c.1745C>G	NM_021224.6	NP_067047.4:p.(Pro582Arg)	NC_000009.11:g.109687938C>G	VUS	1 lab	0b064f21c8
1:17355229 SDHB T>A	1	17355229	17355229	T	A	SDHB				NC_000001.10:g.17355229T>A	VUS	1 lab	a6fa156506
X:5811294 NLGN4X G>T	X	5811294	5811294	G	T	NLGN4X	c.2015C>A	NM_001282145.2	NP_001269074.1:p.(Ser672Tyr)	NC_000023.10:g.5811294G>T	VUS	1 lab	0b09bafd80
17:41223339 BRCA1 C>T	17	41223339	41223339	C	T	BRCA1	c.4676-84G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41223339C>T	(Likely) benign	1 lab	a6fc538305
19:13482567 CACNA1A A>G	19	13482567	13482567	A	G	CACNA1A	c.566T>C	NM_001127221.1	NP_001120693.1:p.(Phe189Ser)	NC_000019.9:g.13482567A>G	VUS	1 lab	a6fd580a0f
11:6630962 ILK C>T	11	6630962	6630962	C	T	ILK	c.864C>T	NM_001014795.3	NP_001014795.1:p.(Val288=)	NC_000011.9:g.6630962C>T	(Likely) benign	1 lab	0b0b891470
10:97446251 TCTN3 C>A	10	97446251	97446251	C	A	TCTN3	c.888+1G>T	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97446251C>A	(Likely) pathogenic	1 lab	a7006150cc
6:157527664 ARID1B CTGTT>C	6	157527664	157527672	CTGTT	C	ARID1B	c.3264_3267del	NM_001363725.2	NP_001350654.1:p.(Phe1088LeufsTer52)	NC_000006.11:g.157527669_157527672del	(Likely) pathogenic	1 lab	0b0c71a95d
16:731212 STUB1 C>T	16	731212	731212	C	T	STUB1	c.220C>T	NM_005861.4	NP_005852.2:p.(Gln74Ter)	NC_000016.9:g.731212C>T	(Likely) pathogenic	1 lab	a7076b522e
11:108186506 ATM G>T	11	108186506	108186506	G	T	ATM	c.6007-44G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108186506G>T	(Likely) benign	1 lab	a707fcda80
X:73960359 NEXMIF T>C	X	73960359	73960359	T	C	NEXMIF	c.4033A>G	NM_001008537.2	NP_001008537.1:p.(Met1345Val)	NC_000023.10:g.73960359T>C	VUS	1 lab	a708bc6a75
19:42795871 CIC C>T	19	42795871	42795871	C	T	CIC	c.5587C>T	NM_001386298.1	NP_001373227.1:p.(Gln1863Ter)	NC_000019.9:g.42795871C>T	(Likely) pathogenic	1 lab	a70c782078
7:24745978 GSDME G>A	7	24745978	24745978	G	A	GSDME	c.1008C>T	NM_004403.2	NP_004394.1:p.(Ser336=)	NC_000007.13:g.24745978G>A	VUS	1 lab	a70ee6e67e
17:29559870 NF1 A>G	17	29559870	29559870	A	G	NF1	c.3467A>G	NM_001042492.3	NP_001035957.1:p.(Asn1156Ser)	NC_000017.10:g.29559870A>G	VUS	1 lab	a710754d52
16:1411876 GNPTG CAAGTAT>C	16	1411876	1411882	CAAGTAT	C	GNPTG	c.238_243del	NM_032520.5	NP_115909.1:p.(Lys80_Tyr81del)	NC_000016.9:g.1411877_1411882del	(Likely) pathogenic	1 lab	a711a48335
13:32912700 BRCA2 C>A	13	32912700	32912700	C	A	BRCA2	c.4208C>A	NM_000059.4	NP_000050.3:p.(Thr1403Asn)	NC_000013.10:g.32912700C>A	(Likely) benign	1 lab	a7140f96ab
16:23614832 PALB2 TGA>T	16	23614832	23614837	TGA	T	PALB2	c.3507_3508del	NM_024675.4	NP_078951.2:p.(His1170PhefsTer19)	NC_000016.9:g.23614836_23614837del	(Likely) pathogenic	1 lab	a71538411a
7:117230496 CFTR A>G	7	117230496	117230496	A	G	CFTR	c.1766+3A>G	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117230496A>G	(Likely) pathogenic	1 lab	0b0ccd1b87
16:67470285 HSD11B2 G>A	16	67470285	67470285	G	A	HSD11B2	c.798G>A	NM_000196.4	NP_000187.3:p.(Lys266=)	NC_000016.9:g.67470285G>A	(Likely) benign	1 lab	a7169f1dd5
13:32907075 BRCA2 C>A	13	32907075	32907075	C	A	BRCA2	c.1460C>A	NM_000059.4	NP_000050.3:p.(Ala487Glu)	NC_000013.10:g.32907075C>A	(Likely) benign	1 lab	a717f07c60
5:112043485 APC C>G	5	112043485	112043485	C	G	APC				NC_000005.9:g.112043485C>G	(Likely) benign	1 lab	a71b75ea61
16:56906647 SLC12A3 C>G	16	56906647	56906647	C	G	SLC12A3	c.1044C>G	NM_000339.3	NP_000330.3:p.(Phe348Leu)	NC_000016.9:g.56906647C>G	VUS	1 lab	a71b9f4fbb
21:33044037 SCAF4 C>T	21	33044037	33044037	C	T	SCAF4	c.3119G>A	NM_020706.2	NP_065757.1:p.(Arg1040Gln)	NC_000021.8:g.33044037C>T	(Likely) benign	1 lab	0b0e2b6aad
22:38204116 GCAT C>T	22	38204116	38204116	C	T	GCAT	c.142C>T	NM_001171690.1	NP_001165161.1:p.(Arg48Trp)	NC_000022.10:g.38204116C>T	VUS	1 lab	a720daa8b2
17:18065965 MYO15A C>G	17	18065965	18065965	C	G	MYO15A	c.9584C>G	NM_016239.3	NP_057323.3:p.(Pro3195Arg)	NC_000017.10:g.18065965C>G	(Likely) pathogenic	1 lab	a722333ec8
1:43890501 SZT2 A>G	1	43890501	43890501	A	G	SZT2	c.2518A>G	NM_015284.4	NP_056099.3:p.(Ile840Val)	NC_000001.10:g.43890501A>G	VUS	1 lab	0b137f19cb
6:33409266 SYNGAP1 A>G	6	33409266	33409266	A	G	SYNGAP1	c.2116-92A>G	NM_006772.3	NP_006763.2:p.?	NC_000006.11:g.33409266A>G	(Likely) benign	1 lab	aad13079bd
8:55540083 RP1 C>T	8	55540083	55540083	C	T	RP1	c.3641C>T	NM_006269.2	NP_006260.1:p.(Thr1214Met)	NC_000008.10:g.55540083C>T	VUS	1 lab	a7250d6045
20:3063389 AVP C>T	20	3063389	3063389	C	T	AVP	c.382G>A	NM_000490.4	NP_000481.2:p.(Asp128Asn)	NC_000020.10:g.3063389C>T	VUS	1 lab	a727a0f95b
2:27706523 IFT172 G>A	2	27706523	27706523	G	A	IFT172	c.406C>T	NM_015662.2	NP_056477.1:p.(Arg136Cys)	NC_000002.11:g.27706523G>A	VUS	1 lab	a7287e5bdf
16:1618247 IFT140 C>T	16	1618247	1618247	C	T	IFT140	c.1741G>A	NM_014714.3	NP_055529.2:p.(Gly581Arg)	NC_000016.9:g.1618247C>T	VUS	1 lab	a729061150
3:37090459 MLH1 C>T	3	37090459	37090459	C	T	MLH1	c.2054C>T	NM_000249.3	NP_000240.1:p.(Ser685Phe)	NC_000003.11:g.37090459C>T	(Likely) benign	1 lab	a72f512849
16:23647552 PALB2 C>G	16	23647552	23647552	C	G	PALB2	c.315G>C	NM_024675.3	NP_078951.2:p.(Glu105Asp)	NC_000016.9:g.23647552C>G	(Likely) benign	1 lab	a730da17ac
12:52867151 KRT6C C>A	12	52867151	52867151	C	A	KRT6C	c.371G>T	NM_173086.5	NP_775109.2:p.(Gly124Val)	NC_000012.11:g.52867151C>A	(Likely) benign	1 lab	0b13ff07f8
12:89865509 POC1B A>G	12	89865509	89865509	A	G	POC1B	c.561-3T>C	NM_172240.2	NP_758440.1:p.?	NC_000012.11:g.89865509A>G	VUS	1 lab	a7331ebd3e
16:3707343 TRAP1 G>C	16	3707343	3707343	G	C	TRAP1				NC_000016.9:g.3707343G>C	(Likely) pathogenic	1 lab	a739750a56
8:22021037 SFTPC C>A	8	22021037	22021037	C	A	SFTPC	c.413C>A	NM_001172357.2	NP_001165828.1:p.(Thr138Asn)	NC_000008.10:g.22021037C>A	(Likely) benign	1 lab	0b14b1607f
13:32972979 BRCA2 A>G	13	32972979	32972979	A	G	BRCA2	c.*72A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32972979A>G	(Likely) benign	1 lab	a73bec3aba
X:70443580 GJB1 C>T	X	70443580	70443580	C	T	GJB1	c.23C>T	NM_000166.6	NP_000157.1:p.(Thr8Ile)	NC_000023.10:g.70443580C>T	VUS	1 lab	a7417b786b
21:43792890 TMPRSS3 T>C	21	43792890	43792890	T	C	TMPRSS3				NC_000021.8:g.43792890T>C	(Likely) pathogenic	1 lab	a743d8caab
2:26700156 OTOF C>T	2	26700156	26700156	C	T	OTOF	c.2407G>A	NM_194248.2	NP_919224.1:p.(Glu803Lys)	NC_000002.11:g.26700156C>T	VUS	1 lab	a74703064e
2:47613788 EPCAM G>A	2	47613788	47613788	G	A	EPCAM	c.*36G>A	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613788G>A	(Likely) benign	1 lab	a7471b13ab
5:148407278 SH3TC2 C>T	5	148407278	148407278	C	T	SH3TC2	c.2017G>A	NM_024577.4	NP_078853.2:p.(Ala673Thr)	NC_000005.9:g.148407278C>T	(Likely) benign	1 lab	a7473e38ef
7:157178269 DNAJB6 G>A	7	157178269	157178269	G	A	DNAJB6	c.655G>A	NM_058246.3	NP_490647.1:p.(Glu219Lys)	NC_000007.13:g.157178269G>A	VUS	1 lab	a74786a0a9
X:55041262 ALAS2 C>T	X	55041262	55041262	C	T	ALAS2	c.1355G>A	NM_000032.4	NP_000023.2:p.(Arg452His)	NC_000023.10:g.55041262C>T	(Likely) pathogenic	1 lab	a747e186b2
10:88469740 LDB3 C>T	10	88469740	88469740	C	T	LDB3	c.1164C>T	NM_007078.2	NP_009009.1:p.(Pro388=)	NC_000010.10:g.88469740C>T	(Likely) benign	1 lab	a7480239d5
2:9630413 ADAM17 T>C	2	9630413	9630413	T	C	ADAM17	c.2368A>G	NM_003183.6	NP_003174.3:p.(Lys790Glu)	NC_000002.11:g.9630413T>C	VUS	1 lab	0b17981cbc
8:87638210 CNGB3 C>T	8	87638210	87638210	C	T	CNGB3	c.1578+1G>A	NM_019098.4	NP_061971.3:p.?	NC_000008.10:g.87638210C>T	(Likely) pathogenic	1 lab	a75a03d449
9:3293194 RFX3 T>G	9	3293194	3293194	T	G	RFX3	c.614A>C	NM_134428.2	NP_602304.1:p.(Tyr205Ser)	NC_000009.11:g.3293194T>G	(Likely) pathogenic	1 lab	a75a0df5c3
3:111304209 CD96 C>T	3	111304209	111304209	C	T	CD96	c.839C>T	NM_198196.2	NP_937839.1:p.(Thr280Met)	NC_000003.11:g.111304209C>T	(Likely) pathogenic	1 lab	a75ed1f5c1
7:30477229 NOD1 C>T	7	30477229	30477229	C	T	NOD1	c.2497G>A	NM_006092.4	NP_006083.1:p.(Ala833Thr)	NC_000007.13:g.30477229C>T	VUS	1 lab	a75f8ac5d2
14:50649239 SOS2 A>T	14	50649239	50649239	A	T	SOS2	c.800T>A	NM_006939.3	NP_008870.2:p.(Met267Lys)	NC_000014.8:g.50649239A>T	(Likely) pathogenic	1 lab	a7602c67df
12:54339052 HOXC13 C>A	12	54339052	54339052	C	A	HOXC13	c.*12C>A	NM_017410.3	NP_059106.2:p.?	NC_000012.11:g.54339052C>A	(Likely) benign	1 lab	0b185a7232
11:68131400 LRP5 G>A	11	68131400	68131400	G	A	LRP5	c.872G>A	NM_002335.4	NP_002326.2:p.(Arg291Gln)	NC_000011.9:g.68131400G>A	VUS	1 lab	a7613314ce
9:140051238 GRIN1 A>G	9	140051238	140051238	A	G	GRIN1	c.789A>G	NM_007327.3	NP_015566.1:p.(Pro263=)	NC_000009.11:g.140051238A>G	(Likely) benign	1 lab	a7645f4b37
10:73462309 CDH23 G>T	10	73462309	73462309	G	T	CDH23	c.2591G>T	NM_022124.5	NP_071407.4:p.(Gly864Val)	NC_000010.10:g.73462309G>T	VUS	1 lab	a76519a3ec
13:32972606 BRCA2 C>A	13	32972606	32972606	C	A	BRCA2	c.9956C>A	NM_000059.3	NP_000050.2:p.(Ser3319Tyr)	NC_000013.10:g.32972606C>A	VUS	1 lab	a766b63403
19:39076607 RYR1 C>G	19	39076607	39076607	C	G	RYR1	c.14833C>G	NM_000540.2	NP_000531.2:p.(Arg4945Gly)	NC_000019.9:g.39076607C>G	(Likely) pathogenic	1 lab	a767193def
2:27668845 IFT172 C>T	2	27668845	27668845	C	T	IFT172				NC_000002.11:g.27668845C>T	(Likely) pathogenic	1 lab	a769ccae7e
7:151880064 KMT2C T>C	7	151880064	151880064	T	C	KMT2C	c.5260A>G	NM_170606.3	NP_733751.2:p.(Arg1754Gly)	NC_000007.13:g.151880064T>C	VUS	1 lab	a769dac909
7:135315087 NUP205 C>G	7	135315087	135315087	C	G	NUP205	c.4933-5C>G	NM_015135.3	NP_055950.2:p.?	NC_000007.13:g.135315087C>G	VUS	1 lab	0b19aad4e2
8:10470419 RP1L1 G>A	8	10470419	10470419	G	A	RP1L1	c.1189C>T	NM_178857.5	NP_849188.4:p.(Arg397Ter)	NC_000008.10:g.10470419G>A	(Likely) pathogenic	1 lab	a76a231841
1:215933077 USH2A C>T	1	215933077	215933077	C	T	USH2A	c.11156G>A	NM_206933.4	NP_996816.3:p.(Arg3719His)	NC_000001.10:g.215933077C>T	(Likely) pathogenic	1 lab	a76d83e37f
6:152831425 SYNE1 CAG>C	6	152831425	152831429	CAG	C	SYNE1	c.482_483del	NM_182961.4	NP_892006.3:p.(Ser161Ter)	NC_000006.11:g.152831428_152831429del	(Likely) pathogenic	1 lab	a76ed62f7c
12:112910765 PTPN11 G>T	12	112910765	112910765	G	T	PTPN11	c.774G>T	NM_002834.3	NP_002825.3:p.(Glu258Asp)	NC_000012.11:g.112910765G>T	VUS	1 lab	a7735a1d70
12:12038903 ETV6 G>A	12	12038903	12038903	G	A	ETV6	c.1196G>A	NM_001987.4	NP_001978.1:p.(Arg399His)	NC_000012.11:g.12038903G>A	(Likely) pathogenic	1 lab	a776646aac
12:49420607 KMT2D G>A	12	49420607	49420607	G	A	KMT2D	c.15142C>T	NM_003482.3	NP_003473.3:p.(Arg5048Cys)	NC_000012.11:g.49420607G>A	(Likely) pathogenic	1 lab	a7779f8c67
12:88443059 CEP290 G>GT	12	88443059	88443066	G	GT	CEP290	c.7341dup	NM_025114.3	NP_079390.3:p.(Leu2448ThrfsTer8)	NC_000012.11:g.88443066dup	(Likely) pathogenic	1 lab	a7789fae2a
20:61468512 COL9A3 C>T	20	61468512	61468512	C	T	COL9A3	c.1681C>T	NM_001853.3	NP_001844.3:p.(Pro561Ser)	NC_000020.10:g.61468512C>T	VUS	1 lab	a77d1a8657
17:18030410 MYO15A A>C	17	18030410	18030410	A	C	MYO15A	c.3963A>C	NM_016239.3	NP_057323.3:p.(Lys1321Asn)	NC_000017.10:g.18030410A>C	VUS	1 lab	a77dd95f3f
13:32914669 BRCA2 T>C	13	32914669	32914669	T	C	BRCA2	c.6177T>C	NM_000059.3	NP_000050.2:p.(Ser2059=)	NC_000013.10:g.32914669T>C	(Likely) benign	1 lab	a78020538b
1:5948677 NPHP4 G>A	1	5948677	5948677	G	A	NPHP4	c.2305-1151C>T	NM_015102.5	NP_055917.1:p.?	NC_000001.10:g.5948677G>A	(Likely) benign	1 lab	0b19e40ef1
8:11607770 GATA4 G>C	8	11607770	11607770	G	C	GATA4	c.909+25G>C	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11607770G>C	(Likely) benign	1 lab	a785ba8c2b
1:240071810 CHRM3 C>T	1	240071810	240071810	C	T	CHRM3	c.1059C>T	NM_000740.3	NP_000731.1:p.(Asp353=)	NC_000001.10:g.240071810C>T	(Likely) benign	1 lab	1031d1d99c
7:128488789 FLNC C>T	7	128488789	128488789	C	T	FLNC	c.4737+18C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128488789C>T	(Likely) benign	1 lab	1035d60984
4:114161676 ANK2 C>T	4	114161676	114161676	C	T	ANK2	c.729C>T	NM_001148.5	NP_001139.3:p.(Tyr243=)	NC_000004.11:g.114161676C>T	(Likely) benign	1 lab	a7879268ab
2:179576881 TTN A>G	2	179576881	179576881	A	G	TTN	c.27676T>C	NM_001267550.1	NP_001254479.1:p.(Cys9226Arg)	NC_000002.11:g.179576881A>G	(Likely) benign	1 lab	10377faabf
19:50789892 MYH14 C>T	19	50789892	50789892	C	T	MYH14	c.4693C>T	NM_001145809.1	NP_001139281.1:p.(Arg1565Trp)	NC_000019.9:g.50789892C>T	VUS	1 lab	a78c98f89b
16:70530270 COG4 C>T	16	70530270	70530270	C	T	COG4	c.1546G>A	NM_015386.2	NP_056201.2:p.(Gly516Arg)	NC_000016.9:g.70530270C>T	(Likely) pathogenic	1 lab	a78e2599e6
1:152280110 FLG C>T	1	152280110	152280110	C	T	FLG	c.7252G>A	NM_002016.1	NP_002007.1:p.(Val2418Met)	NC_000001.10:g.152280110C>T	(Likely) benign	1 lab	a78fffee43
1:193091344 CDC73 T>G	1	193091344	193091344	T	G	CDC73	c.14T>G	NM_024529.5	NP_078805.3:p.(Leu5Arg)	NC_000001.10:g.193091344T>G	VUS	1 lab	a7918c48d3
11:66457358 SPTBN2 A>G	11	66457358	66457358	A	G	SPTBN2	c.5867T>C	NM_006946.2	NP_008877.1:p.(Ile1956Thr)	NC_000011.9:g.66457358A>G	VUS	1 lab	a791b5cf05
21:35821804 KCNE1 C>T	21	35821804	35821804	C	T	KCNE1	c.129G>A	NM_000219.5	NP_000210.2:p.(Glu43=)	NC_000021.8:g.35821804C>T	(Likely) benign	1 lab	a791c19d08
13:32913641 BRCA2 G>A	13	32913641	32913641	G	A	BRCA2	c.5149G>A	NM_000059.3	NP_000050.2:p.(Glu1717Lys)	NC_000013.10:g.32913641G>A	(Likely) benign	1 lab	a793e06b93
7:138579096 KIAA1549 G>A	7	138579096	138579096	G	A	KIAA1549	c.4024C>T	NM_001164665.1	NP_001158137.1:p.(Arg1342Cys)	NC_000007.13:g.138579096G>A	VUS	1 lab	a793e6a4dd
11:64522754 PYGM G>A	11	64522754	64522754	G	A	PYGM	c.846C>T	NM_005609.4	NP_005600.1:p.(Pro282=)	NC_000011.9:g.64522754G>A	VUS	1 lab	a7958b03d4
3:183853336 EIF2B5 C>T	3	183853336	183853336	C	T	EIF2B5	c.163C>T	NM_003907.3	NP_003898.2:p.(Arg55Cys)	NC_000003.11:g.183853336C>T	VUS	1 lab	a7989796c4
1:11907232 NPPA A>G	1	11907232	11907232	A	G	NPPA	c.388T>C	NM_006172.3	NP_006163.1:p.(Cys130Arg)	NC_000001.10:g.11907232A>G	(Likely) pathogenic	1 lab	a798be40fa
X:47485462 CFP C>G	X	47485462	47485462	C	G	CFP	c.1239G>C	NM_002621.2	NP_002612.1:p.(Lys413Asn)	NC_000023.10:g.47485462C>G	VUS	1 lab	a799153986
3:38946720 SCN11A T>C	3	38946720	38946720	T	C	SCN11A	c.1566A>G	NM_014139.2	NP_054858.2:p.(Ala522=)	NC_000003.11:g.38946720T>C	(Likely) benign	1 lab	a79d0bc3e4
12:6125393 VWF C>T	12	6125393	6125393	C	T	VWF	c.5317G>A	NM_000552.3	NP_000543.2:p.(Ala1773Thr)	NC_000012.11:g.6125393C>T	VUS	1 lab	a79e0802e3
17:8065085 VAMP2 C>G	17	8065085	8065085	C	G	VAMP2	c.124-1G>C	NM_014232.3	NP_055047.2:p.?	NC_000017.10:g.8065085C>G	(Likely) pathogenic	1 lab	a7a0829fdf
6:7570685 DSP C>T	6	7570685	7570685	C	T	DSP	c.1590C>T	NM_004415.4	NP_004406.2:p.(Tyr530=)	NC_000006.11:g.7570685C>T	(Likely) benign	1 lab	0b1b94c9a1
12:52845482 KRT6B G>T	12	52845482	52845482	G	T	KRT6B	c.381C>A	NM_005555.4	NP_005546.2:p.(Phe127Leu)	NC_000012.11:g.52845482G>T	VUS	1 lab	0b1c1af496
5:112162946 APC T>G	5	112162946	112162946	T	G	APC	c.1548+2T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162946T>G	(Likely) pathogenic	1 lab	a7a8f5e8d4
1:193150540 CDC73 G>A	1	193150540	193150540	G	A	CDC73	c.973-22385G>A	NM_024529.5	NP_078805.3:p.?	NC_000001.10:g.193150540G>A	(Likely) benign	1 lab	a7aa83f1d3
18:19019568 GREB1L C>G	18	19019568	19019568	C	G	GREB1L	c.919C>G	NM_001142966.2	NP_001136438.1:p.(Pro307Ala)	NC_000018.9:g.19019568C>G	VUS	1 lab	a7aa921949
9:136310057 ADAMTS13 G>A	9	136310057	136310057	G	A	ADAMTS13	c.2494G>A	NM_139025.5	NP_620594.1:p.(Val832Met)	NC_000009.11:g.136310057G>A	(Likely) benign	1 lab	a7ac446841
5:112173783 APC T>A	5	112173783	112173783	T	A	APC	c.2492T>A	NM_000038.6	NP_000029.2:p.(Leu831Ter)	NC_000005.9:g.112173783T>A	(Likely) pathogenic	1 lab	a7ac6416de
1:215847467 USH2A C>T	1	215847467	215847467	C	T	USH2A	c.13786G>A	NM_206933.2	NP_996816.2:p.(Val4596Ile)	NC_000001.10:g.215847467C>T	VUS	1 lab	a7adc63d32
7:44184794 GCK G>C	7	44184794	44184794	G	C	GCK	c.1339C>G	NM_000162.5	NP_000153.1:p.(Arg447Gly)	NC_000007.13:g.44184794G>C	(Likely) pathogenic	1 lab	a7b07be500
13:32889756 BRCA2 G>T	13	32889756	32889756	G	T	BRCA2				NC_000013.10:g.32889756G>T	(Likely) benign	1 lab	b551eee82b
7:154564602 MISSING T>C	7	154564602	154564602	T	C	MISSING				NC_000007.13:g.154564602T>C	(Likely) benign	1 lab	a7ba02279c
3:48612843 COL7A1 C>T	3	48612843	48612843	C	T	COL7A1	c.6109G>A	NM_000094.3	NP_000085.1:p.(Gly2037Arg)	NC_000003.11:g.48612843C>T	(Likely) pathogenic	1 lab	a7ba2e3970
15:100516316 ADAMTS17 T>A	15	100516316	100516316	T	A	ADAMTS17	c.3061A>T	NM_139057.3	NP_620688.2:p.(Arg1021Ter)	NC_000015.9:g.100516316T>A	(Likely) pathogenic	1 lab	a7d1ccd159
3:48606825 COL7A1 C>T	3	48606825	48606825	C	T	COL7A1				NC_000003.11:g.48606825C>T	(Likely) pathogenic	1 lab	a7bfca65bb
10:88476297 LDB3 C>G	10	88476297	88476297	C	G	LDB3	c.1445C>G	NM_007078.2	NP_009009.1:p.(Ala482Gly)	NC_000010.10:g.88476297C>G	(Likely) benign	1 lab	a7c269c2aa
2:47693938 MSH2 T>TG	2	47693938	47693939	T	TG	MSH2	c.1652_1653insG	NM_000251.2	NP_000242.1:p.(Phe551LeufsTer11)	NC_000002.11:g.47693938_47693939insG	(Likely) pathogenic	1 lab	a7c4b04ac6
7:91630688 AKAP9 A>T	7	91630688	91630688	A	T	AKAP9	c.1457A>T	NM_005751.4	NP_005742.4:p.(Asp486Val)	NC_000007.13:g.91630688A>T	VUS	1 lab	a7c79a56df
13:32911446 BRCA2 A>C	13	32911446	32911446	A	C	BRCA2	c.2954A>C	NM_000059.3	NP_000050.2:p.(Lys985Thr)	NC_000013.10:g.32911446A>C	(Likely) benign	1 lab	a7c80abc98
9:117797608 TNC C>T	9	117797608	117797608	C	T	TNC	c.5662G>A	NM_002160.4	NP_002151.2:p.(Asp1888Asn)	NC_000009.11:g.117797608C>T	VUS	1 lab	a7c84411db
3:38755477 SCN10A C>T	3	38755477	38755477	C	T	SCN10A	c.3776G>A	NM_006514.4	NP_006505.4:p.(Arg1259Gln)	NC_000003.11:g.38755477C>T	VUS	1 lab	a7c93b815f
21:35742938 KCNE2 T>C	21	35742938	35742938	T	C	KCNE2	c.161T>C	NM_172201.1	NP_751951.1:p.(Met54Thr)	NC_000021.8:g.35742938T>C	VUS	1 lab	a7cac1a64a
16:2160494 PKD1 C>T	16	2160494	2160494	C	T	PKD1	c.4674G>A	NM_001009944.2	NP_001009944.2:p.(Thr1558=)	NC_000016.9:g.2160494C>T	(Likely) benign	1 lab	a7cb0ee8d3
19:50918763 POLD1 T>C	19	50918763	50918763	T	C	POLD1	c.2711T>C	NM_001308632.1	NP_001295561.1:p.(Ile904Thr)	NC_000019.9:g.50918763T>C	VUS	1 lab	0b1d508c16
2:179406211 TTN C>G	2	179406211	179406211	C	G	TTN	c.97593G>C	NM_001267550.2	NP_001254479.2:p.(Val32531=)	NC_000002.11:g.179406211C>G	(Likely) benign	1 lab	a7cd40b58b
2:198363443 HSPD1 C>T	2	198363443	198363443	C	T	HSPD1	c.130G>A	NM_002156.4	NP_002147.2:p.(Val44Ile)	NC_000002.11:g.198363443C>T	(Likely) pathogenic	1 lab	a7d0a78c76
11:6415503 SMPD1 T>G	11	6415503	6415503	T	G	SMPD1	c.1562T>G	NM_000543.4	NP_000534.3:p.(Leu521Arg)	NC_000011.9:g.6415503T>G	VUS	1 lab	a7d12281fc
3:38833565 SCN10A G>A	3	38833565	38833565	G	A	SCN10A	c.365C>T	NM_006514.3	NP_006505.3:p.(Thr122Met)	NC_000003.11:g.38833565G>A	(Likely) benign	1 lab	a7d8da3437
19:55668020 TNNI3 G>T	19	55668020	55668020	G	T	TNNI3	c.109-8C>A	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668020G>T	(Likely) benign	1 lab	a7da5f2055
16:2811980 SRRM2 C>T	16	2811980	2811980	C	T	SRRM2	c.1451C>T	NM_016333.4	NP_057417.3:p.(Ser484Phe)	NC_000016.9:g.2811980C>T	VUS	1 lab	0b2072dd8b
1:209799021 LAMB3 G>A	1	209799021	209799021	G	A	LAMB3	c.1948C>T	NM_001017402.2	NP_001017402.1:p.(Gln650Ter)	NC_000001.10:g.209799021G>A	(Likely) pathogenic	1 lab	0b21545f57
12:52162951 SCN8A C>T	12	52162951	52162951	C	T	SCN8A	c.3204C>T	NM_001330260.2	NP_001317189.1:p.(Ser1068=)	NC_000012.11:g.52162951C>T	(Likely) benign	1 lab	a7e527be61
5:180046074 FLT4 C>G	5	180046074	180046074	C	G	FLT4	c.2797G>C	NM_182925.4	NP_891555.2:p.(Gly933Arg)	NC_000005.9:g.180046074C>G	(Likely) pathogenic	1 lab	a7e623e7ec
2:152534618 NEB AT>A	2	152534618	152534619	AT	A	NEB				NC_000002.11:g.152534619del	(Likely) pathogenic	1 lab	a7ea1a18b5
11:128709897 KCNJ1 TAC>AAG	11	128709897	128709899	TAC	AAG	KCNJ1	c.297_299delinsCTT	NM_000220.6	NP_000211.1:p.(Trp99_Tyr100delinsCysPhe)	NC_000011.9:g.128709897_128709899delinsAAG	VUS	1 lab	a7eea512ae
X:49061742 CACNA1F C>T	X	49061742	49061742	C	T	CACNA1F	c.5789G>A	NM_005183.2	NP_005174.2:p.(Arg1930His)	NC_000023.10:g.49061742C>T	(Likely) benign	1 lab	a7ef56781f
20:39316926 MAFB C>T	20	39316926	39316926	C	T	MAFB	c.565G>A	NM_005461.5	NP_005452.2:p.(Gly189Arg)	NC_000020.10:g.39316926C>T	VUS	1 lab	1a209f8c19
5:112128203 APC C>T	5	112128203	112128203	C	T	APC	c.706C>T	NM_000038.5	NP_000029.2:p.(Gln236Ter)	NC_000005.9:g.112128203C>T	(Likely) pathogenic	1 lab	a7efe0f78e
9:77377724 TRPM6 C>T	9	77377724	77377724	C	T	TRPM6	c.3863G>A	NM_017662.5	NP_060132.3:p.(Gly1288Glu)	NC_000009.11:g.77377724C>T	(Likely) benign	1 lab	103f312f8b
6:101094493 ASCC3 G>A	6	101094493	101094493	G	A	ASCC3	c.3631C>T	NM_006828.3	NP_006819.2:p.(Gln1211Ter)	NC_000006.11:g.101094493G>A	VUS	1 lab	a7f3985137
X:153050245 SRPK3 G>A	X	153050245	153050245	G	A	SRPK3	c.1289G>A	NM_014370.3	NP_055185.2:p.(Arg430Gln)	NC_000023.10:g.153050245G>A	VUS	1 lab	a7f580ab1e
5:127714591 FBN2 C>G	5	127714591	127714591	C	G	FBN2	c.1604-8G>C	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127714591C>G	(Likely) benign	1 lab	a7f804ef3e
11:71152367 DHCR7 T>A	11	71152367	71152367	T	A	DHCR7	c.532A>T	NM_001360.3	NP_001351.2:p.(Ile178Phe)	NC_000011.9:g.71152367T>A	(Likely) pathogenic	1 lab	a7f83cab62
3:127785864 SEC61A1 A>G	3	127785864	127785864	A	G	SEC61A1	c.845A>G	NM_013336.3	NP_037468.1:p.(Lys282Arg)	NC_000003.11:g.127785864A>G	VUS	1 lab	a7f849d458
18:29111364 DSG2 G>A	18	29111364	29111364	G	A	DSG2	c.1280+149G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29111364G>A	(Likely) benign	1 lab	a7f86c5ae4
21:45708284 AIRE G>A	21	45708284	45708284	G	A	AIRE				NC_000021.8:g.45708284G>A	(Likely) benign	1 lab	103f567ae6
X:70349280 MED12 G>GT	X	70349280	70349281	G	GT	MED12	c.3691+2dup	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70349281dup	(Likely) pathogenic	1 lab	0b2b2b901c
X:25025541 ARX G>T	X	25025541	25025541	G	T	ARX	c.1135C>A	NM_139058.3	NP_620689.1:p.(Arg379Ser)	NC_000023.10:g.25025541G>T	(Likely) pathogenic	1 lab	a7fe934899
17:6331836 AIPL1 T>G	17	6331836	6331836	T	G	AIPL1	c.277-10A>C	NM_014336.3	NP_055151.3:p.?	NC_000017.10:g.6331836T>G	(Likely) benign	1 lab	b59a2f7262
14:21868728 CHD8 G>A	14	21868728	21868728	G	A	CHD8	c.4414C>T	NM_001170629.1	NP_001164100.1:p.(Arg1472Ter)	NC_000014.8:g.21868728G>A	(Likely) pathogenic	1 lab	a7ff6e0843
19:45858929 ERCC2 C>A	19	45858929	45858929	C	A	ERCC2	c.1537G>T	NM_000400.4	NP_000391.1:p.(Asp513Tyr)	NC_000019.9:g.45858929C>A	VUS	1 lab	a80171f565
15:85401456 ALPK3 G>C	15	85401456	85401456	G	C	ALPK3	c.4093G>C	NM_020778.4	NP_065829.3:p.(Ala1365Pro)	NC_000015.9:g.85401456G>C	VUS	1 lab	10451aaa67
11:534289 HRAS C>A	11	534289	534289	C	A	HRAS	c.34G>T	NM_005343.2	NP_005334.1:p.(Gly12Cys)	NC_000011.9:g.534289C>A	(Likely) pathogenic	1 lab	a8034427ef
2:26750769 OTOF G>A	2	26750769	26750769	G	A	OTOF	c.158C>T	NM_194248.2	NP_919224.1:p.(Ala53Val)	NC_000002.11:g.26750769G>A	(Likely) benign	1 lab	a8056806f0
17:27251217 PHF12 G>T	17	27251217	27251217	G	T	PHF12	c.425C>A	NM_001033561.1	NP_001028733.1:p.(Ser142Ter)	NC_000017.10:g.27251217G>T	(Likely) pathogenic	1 lab	a805a10b03
2:47657021 MSH2 G>A	2	47657021	47657021	G	A	MSH2	c.1217G>A	NM_000251.2	NP_000242.1:p.(Arg406Gln)	NC_000002.11:g.47657021G>A	VUS	1 lab	a80aff0f4a
6:42672102 PRPH2 C>T	6	42672102	42672102	C	T	PRPH2	c.828+1G>A	NM_000322.4	NP_000313.2:p.?	NC_000006.11:g.42672102C>T	(Likely) pathogenic	1 lab	a80b5f5321
2:42282449 PKDCC G>A	2	42282449	42282449	G	A	PKDCC	c.1138G>A	NM_138370.3	NP_612379.2:p.(Glu380Lys)	NC_000002.11:g.42282449G>A	VUS	1 lab	a80cd8af89
2:240048306 HDAC4 T>C	2	240048306	240048306	T	C	HDAC4	c.1364A>G	NM_006037.4	NP_006028.2:p.(Lys455Arg)	NC_000002.11:g.240048306T>C	VUS	1 lab	0b2ba0514e
15:67524206 AAGAB G>A	15	67524206	67524206	G	A	AAGAB	c.481C>T	NM_024666.4	NP_078942.3:p.(Arg161Ter)	NC_000015.9:g.67524206G>A	(Likely) pathogenic	1 lab	a8113d63c8
5:40958126 C7 T>C	5	40958126	40958126	T	C	C7	c.1261-9T>C	NM_000587.2	NP_000578.2:p.?	NC_000005.9:g.40958126T>C	(Likely) benign	1 lab	104bc8427e
20:31997969 SNTA1 G>A	20	31997969	31997969	G	A	SNTA1	c.1209C>T	NM_003098.2	NP_003089.1:p.(Ala403=)	NC_000020.10:g.31997969G>A	(Likely) benign	1 lab	a814ec21bf
9:109687142 ZNF462 G>A	9	109687142	109687142	G	A	ZNF462	c.949G>A	NM_021224.6	NP_067047.4:p.(Val317Ile)	NC_000009.11:g.109687142G>A	(Likely) benign	1 lab	0b2c483e22
14:23899844 MYH7 G>T	14	23899844	23899844	G	T	MYH7	c.924C>A	NM_000257.3	NP_000248.2:p.(Tyr308Ter)	NC_000014.8:g.23899844G>T	VUS	1 lab	a81a84c9ee
15:75687179 SIN3A G>A	15	75687179	75687179	G	A	SIN3A				NC_000015.9:g.75687179G>A	(Likely) pathogenic	1 lab	b5bd8d0852
12:32949092 PKP2 G>A	12	32949092	32949092	G	A	PKP2	c.2440C>T	NM_004572.3	NP_004563.2:p.(Leu814=)	NC_000012.11:g.32949092G>A	(Likely) benign	1 lab	a81bb2ca96
2:166168533 SCN2A A>G	2	166168533	166168533	A	G	SCN2A	c.971-2A>G	NM_001040142.1	NP_001035232.1:p.?	NC_000002.11:g.166168533A>G	(Likely) pathogenic	1 lab	a81f56e6d5
7:120428607 TSPAN12 G>A	7	120428607	120428607	G	A	TSPAN12				NC_000007.13:g.120428607G>A	(Likely) benign	1 lab	a82029d186
19:6690744 C3 A>G	19	6690744	6690744	A	G	C3	c.3391-6T>C	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6690744A>G	(Likely) benign	1 lab	a824982f5b
12:48376327 COL2A1 G>A	12	48376327	48376327	G	A	COL2A1	c.2259C>T	NM_001844.5	NP_001835.3:p.(Gly753=)	NC_000012.11:g.48376327G>A	VUS	1 lab	a824a7b3d6
1:201333484 TNNT2 C>A	1	201333484	201333484	C	A	TNNT2	c.431G>T	NM_001276345.2	NP_001263274.1:p.(Arg144Leu)	NC_000001.10:g.201333484C>A	VUS	1 lab	a8284d449e
13:32906888 BRCA2 GA>G	13	32906888	32906893	GA	G	BRCA2	c.1278del	NM_000059.4	NP_000050.3:p.(Asp427ThrfsTer3)	NC_000013.10:g.32906893del	(Likely) pathogenic	1 lab	0b3054818b
1:94471065 ABCA4 G>A	1	94471065	94471065	G	A	ABCA4	c.6079C>T	NM_000350.2	NP_000341.2:p.(Leu2027Phe)	NC_000001.10:g.94471065G>A	(Likely) pathogenic	1 lab	a82c958051
X:76855934 ATRX A>C	X	76855934	76855934	A	C	ATRX	c.5666T>G	NM_000489.3	NP_000480.2:p.(Leu1889Trp)	NC_000023.10:g.76855934A>C	(Likely) pathogenic	1 lab	a837999e0d
10:70192017 DNA2 G>C	10	70192017	70192017	G	C	DNA2				NC_000010.10:g.70192017G>C	VUS	1 lab	a83aed05fd
3:38770223 SCN10A C>T	3	38770223	38770223	C	T	SCN10A	c.2450G>A	NM_006514.3	NP_006505.3:p.(Arg817Gln)	NC_000003.11:g.38770223C>T	(Likely) benign	1 lab	a83cc0cd00
18:44146343 LOXHD1 T>A	18	44146343	44146343	T	A	LOXHD1	c.2314A>T	NM_144612.6	NP_653213.6:p.(Ile772Phe)	NC_000018.9:g.44146343T>A	VUS	1 lab	a83f310a88
5:112175348 APC G>T	5	112175348	112175348	G	T	APC	c.4057G>T	NM_000038.5	NP_000029.2:p.(Glu1353Ter)	NC_000005.9:g.112175348G>T	(Likely) pathogenic	1 lab	a8434e547f
17:7096281 DLG4 G>A	17	7096281	7096281	G	A	DLG4	c.1978C>T	NM_001365.4	NP_001356.1:p.(Arg660Ter)	NC_000017.10:g.7096281G>A	(Likely) pathogenic	1 lab	a84421841f
4:48564940 FRYL C>A	4	48564940	48564940	C	A	FRYL	c.3662G>T	NM_015030.2	NP_055845.1:p.(Arg1221Ile)	NC_000004.11:g.48564940C>A	VUS	1 lab	a844a1f1f4
2:160289527 BAZ2B AT>A	2	160289527	160289529	AT	A	BAZ2B	c.1640del	NM_013450.3	NP_038478.2:p.(Asn547IlefsTer5)	NC_000002.11:g.160289529del	(Likely) pathogenic	1 lab	a8473cd82d
5:112162802 APC TAGG>T	5	112162802	112162805	TAGG	T	APC	c.1409-2_1409del	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162803_112162805del	(Likely) pathogenic	1 lab	a847594058
15:43324764 UBR1 A>G	15	43324764	43324764	A	G	UBR1	c.2254+2T>C	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43324764A>G	(Likely) pathogenic	1 lab	a849f1c92c
2:47613998 EPCAM G>A	2	47613998	47613998	G	A	EPCAM	c.*246G>A	NM_002354.2	NP_002345.2:p.?	NC_000002.11:g.47613998G>A	(Likely) benign	1 lab	a84bc94cc5
X:69670079 DLG3 T>A	X	69670079	69670079	T	A	DLG3	c.764T>A	NM_021120.4	NP_066943.2:p.(Ile255Asn)	NC_000023.10:g.69670079T>A	VUS	1 lab	a84ec94fa2
19:3121115 GNA11 G>A	19	3121115	3121115	G	A	GNA11	c.1018G>A	NM_002067.5	NP_002058.2:p.(Val340Met)	NC_000019.9:g.3121115G>A	(Likely) pathogenic	1 lab	a85467d619
3:193384964 OPA1 C>T	3	193384964	193384964	C	T	OPA1	c.2878C>T	NM_130837.2	NP_570850.2:p.(Arg960Ter)	NC_000003.11:g.193384964C>T	(Likely) pathogenic	1 lab	a8566d51c3
3:52437277 BAP1 G>GATTGA	3	52437277	52437282	G	GATTGA	BAP1	c.1766_1767insTCAAT	NM_004656.3	NP_004647.1:p.(Gly591SerfsTer28)	NC_000003.11:g.52437281_52437282insAATTG	(Likely) pathogenic	1 lab	a857f8ad3c
15:73660364 HCN4 C>T	15	73660364	73660364	C	T	HCN4	c.248G>A	NM_005477.2	NP_005468.1:p.(Gly83Asp)	NC_000015.9:g.73660364C>T	(Likely) benign	1 lab	a858be86e7
10:123285699 FGFR2 C>T	10	123285699	123285699	C	T	FGFR2	c.749-6016G>A	NM_000141.5	NP_000132.3:p.?	NC_000010.10:g.123285699C>T	VUS	1 lab	a858ec92e2
17:6337250 AIPL1 A>G	17	6337250	6337250	A	G	AIPL1	c.265T>C	NM_014336.5	NP_055151.3:p.(Cys89Arg)	NC_000017.10:g.6337250A>G	(Likely) pathogenic	1 lab	a8592f5279
22:17670872 ADA2 A>C	22	17670872	17670872	A	C	ADA2	c.932T>G	NM_001282225.2	NP_001269154.1:p.(Leu311Arg)	NC_000022.10:g.17670872A>C	(Likely) pathogenic	1 lab	a85ae04a22
13:32968918 BRCA2 C>T	13	32968918	32968918	C	T	BRCA2	c.9349C>T	NM_000059.4	NP_000050.3:p.(His3117Tyr)	NC_000013.10:g.32968918C>T	VUS	1 lab	a85fec1ee6
8:38325326 FGFR1 G>A	8	38325326	38325326	G	A	FGFR1				NC_000008.10:g.38325326G>A	(Likely) benign	1 lab	a86092912b
2:216236712 FN1 T>C	2	216236712	216236712	T	C	FN1	c.6634A>G	NM_212482.2	NP_997647.1:p.(Ile2212Val)	NC_000002.11:g.216236712T>C	(Likely) benign	1 lab	104caf29cd
2:216288139 FN1 T>G	2	216288139	216288139	T	G	FN1	c.1327A>C	NM_212482.2	NP_997647.1:p.(Met443Leu)	NC_000002.11:g.216288139T>G	VUS	1 lab	a869f5416e
4:1795557 FGFR3 T>A	4	1795557	1795557	T	A	FGFR3				NC_000004.11:g.1795557T>A	(Likely) benign	1 lab	a86c6f9909
X:22237187 PHEX G>A	X	22237187	22237187	G	A	PHEX	c.1735G>A	NM_000444.6	NP_000435.3:p.(Gly579Arg)	NC_000023.10:g.22237187G>A	(Likely) pathogenic	1 lab	a86c893e17
X:31697505 DMD A>T	X	31697505	31697505	A	T	DMD	c.7859T>A	NM_004006.3	NP_003997.2:p.(Ile2620Asn)	NC_000023.10:g.31697505A>T	VUS	1 lab	0b39a173b6
1:103470046 COL11A1 T>C	1	103470046	103470046	T	C	COL11A1	c.1900-2A>G	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103470046T>C	(Likely) pathogenic	1 lab	a86d1c5de6
8:94772136 TMEM67 C>T	8	94772136	94772136	C	T	TMEM67	c.78C>T	NM_001142301.1	NP_001135773.1:p.(Pro26=)	NC_000008.10:g.94772136C>T	(Likely) benign	1 lab	a86d8732f3
14:23855159 MYH6 C>G	14	23855159	23855159	C	G	MYH6	c.5141G>C	NM_002471.4	NP_002462.2:p.(Arg1714Pro)	NC_000014.8:g.23855159C>G	VUS	1 lab	0b3a3b51bc
9:129458163 LMX1B CG>C	9	129458163	129458164	CG	C	LMX1B	c.933del	NM_002316.4	NP_002307.2:p.(Leu312TrpfsTer47)	NC_000009.11:g.129458164del	(Likely) pathogenic	1 lab	a86f117193
3:171417591 PLD1 G>A	3	171417591	171417591	G	A	PLD1	c.1171C>T	NM_002662.4	NP_002653.1:p.(Arg391Cys)	NC_000003.11:g.171417591G>A	VUS	1 lab	a8703ba987
18:28681934 DSCAS T>C	18	28681934	28681934	T	C	DSCAS	n.136+248T>C	NR_110785.1		NC_000018.9:g.28681934T>C	VUS	1 lab	0b3a4b0d02
8:43025822 HGSNAT T>C	8	43025822	43025822	T	C	HGSNAT				NC_000008.10:g.43025822T>C	VUS	1 lab	a874e64c4c
1:151378921 POGZ G>A	1	151378921	151378921	G	A	POGZ	c.2590C>T	NM_015100.3	NP_055915.2:p.(Arg864Ter)	NC_000001.10:g.151378921G>A	(Likely) pathogenic	1 lab	a8772c2b07
6:79655820 PHIP G>A	6	79655820	79655820	G	A	PHIP	c.4528C>T	NM_017934.6	NP_060404.4:p.(Arg1510Ter)	NC_000006.11:g.79655820G>A	(Likely) pathogenic	1 lab	a87814aaad
3:4718324 ITPR1 G>A	3	4718324	4718324	G	A	ITPR1	c.2734G>A	NM_002222.5	NP_002213.5:p.(Gly912Ser)	NC_000003.11:g.4718324G>A	VUS	1 lab	a878d24b40
10:8105977 GATA3 G>A	10	8105977	8105977	G	A	GATA3	c.800G>A	NM_001002295.1	NP_001002295.1:p.(Cys267Tyr)	NC_000010.10:g.8105977G>A	VUS	1 lab	a87e34ac59
19:42492495 ATP1A3 C>T	19	42492495	42492495	C	T	ATP1A3	c.128G>A	NM_152296.4	NP_689509.1:p.(Arg43Gln)	NC_000019.9:g.42492495C>T	VUS	1 lab	a880af515d
16:65038589 CDH11 C>T	16	65038589	65038589	C	T	CDH11	c.184G>A	NM_001797.4	NP_001788.2:p.(Val62Met)	NC_000016.9:g.65038589C>T	VUS	1 lab	0b3bd28f91
15:38648975 SPRED1 C>T	15	38648975	38648975	C	T	SPRED1	c.*5110C>T	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38648975C>T	(Likely) benign	1 lab	a8865457cb
22:21350350 LZTR1 T>C	22	21350350	21350350	T	C	LZTR1	c.2168T>C	NM_006767.4	NP_006758.2:p.(Met723Thr)	NC_000022.10:g.21350350T>C	VUS	1 lab	a886e48629
2:179578674 TTN A>C	2	179578674	179578674	A	C	TTN	c.26711T>G	NM_001267550.2	NP_001254479.2:p.(Val8904Gly)	NC_000002.11:g.179578674A>C	VUS	1 lab	a88859d2b4
22:51011376 CPT1B G>C	22	51011376	51011376	G	C	CPT1B	c.1280C>G	NM_004377.3	NP_004368.1:p.(Ser427Cys)	NC_000022.10:g.51011376G>C	(Likely) benign	1 lab	a8895a52ce
5:112163704 APC G>T	5	112163704	112163704	G	T	APC	c.1626+1G>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112163704G>T	(Likely) pathogenic	1 lab	a889c0a0e0
19:42753259 ERF A>C	19	42753259	42753259	A	C	ERF				NC_000019.9:g.42753259A>C	(Likely) benign	1 lab	a88d1db5ad
7:150655391 KCNH2 C>G	7	150655391	150655391	C	G	KCNH2	c.672G>C	NM_000238.3	NP_000229.1:p.(Gly224=)	NC_000007.13:g.150655391C>G	(Likely) benign	1 lab	a88e2b4864
4:55561783 KIT G>A	4	55561783	55561783	G	A	KIT	c.173G>A	NM_000222.3	NP_000213.1:p.(Cys58Tyr)	NC_000004.11:g.55561783G>A	(Likely) pathogenic	1 lab	a88e6da4e7
2:179435940 TTN A>G	2	179435940	179435940	A	G	TTN	c.74919T>C	NM_001267550.2	NP_001254479.2:p.(Leu24973=)	NC_000002.11:g.179435940A>G	(Likely) benign	1 lab	a88f3f2205
1:39945533 MACF1 G>A	1	39945533	39945533	G	A	MACF1	c.15758G>A	NM_012090.5	NP_036222.3:p.(Gly5253Glu)	NC_000001.10:g.39945533G>A	VUS	1 lab	0b3cd770f6
1:204375389 PPP1R15B C>A	1	204375389	204375389	C	A	PPP1R15B				NC_000001.10:g.204375389C>A	(Likely) pathogenic	1 lab	a891967439
19:36246543 HSPB6 G>T	19	36246543	36246543	G	T	HSPB6	c.363C>A	NM_144617.2	NP_653218.1:p.(Tyr121Ter)	NC_000019.9:g.36246543G>T	VUS	1 lab	a89547c25a
5:149919739 NDST1 G>C	5	149919739	149919739	G	C	NDST1	c.1662G>C	NM_001543.5	NP_001534.1:p.(Thr554=)	NC_000005.9:g.149919739G>C	(Likely) benign	1 lab	0b3d0a2f7a
14:61115700 SIX1 G>A	14	61115700	61115700	G	A	SIX1	c.208C>T	NM_005982.4	NP_005973.1:p.(Leu70=)	NC_000014.8:g.61115700G>A	(Likely) benign	1 lab	a896fe21f9
10:89692913 PTEN G>A	10	89692913	89692913	G	A	PTEN	c.397G>A	NM_000314.8	NP_000305.3:p.(Val133Ile)	NC_000010.10:g.89692913G>A	VUS	1 lab	a8998dd2b1
13:32906997 BRCA2 A>C	13	32906997	32906997	A	C	BRCA2	c.1382A>C	NM_000059.3	NP_000050.2:p.(Glu461Ala)	NC_000013.10:g.32906997A>C	(Likely) benign	1 lab	a899f933af
1:229568750 ACTA1 C>G	1	229568750	229568750	C	G	ACTA1				NC_000001.10:g.229568750C>G	VUS	1 lab	a89c939ac4
7:150655305 KCNH2 G>A	7	150655305	150655305	G	A	KCNH2	c.758C>T	NM_000238.3	NP_000229.1:p.(Ala253Val)	NC_000007.13:g.150655305G>A	(Likely) benign	1 lab	a89e3f4c53
2:48027316 MSH6 C>T	2	48027316	48027316	C	T	MSH6	c.2194C>T	NM_000179.2	NP_000170.1:p.(Arg732Ter)	NC_000002.11:g.48027316C>T	(Likely) pathogenic	1 lab	a8a2b6cf47
7:150648594 KCNH2 G>A	7	150648594	150648594	G	A	KCNH2	c.1887C>T	NM_000238.3	NP_000229.1:p.(Asn629=)	NC_000007.13:g.150648594G>A	(Likely) benign	1 lab	a8a80d8c6e
11:76873957 MYO7A A>C	11	76873957	76873957	A	C	MYO7A	c.1613A>C	NM_000260.3	NP_000251.3:p.(Tyr538Ser)	NC_000011.9:g.76873957A>C	VUS	1 lab	a8a98c7d6e
13:32914462 BRCA2 T>C	13	32914462	32914462	T	C	BRCA2	c.5970T>C	NM_000059.3	NP_000050.2:p.(Asp1990=)	NC_000013.10:g.32914462T>C	(Likely) benign	1 lab	a8ac8869d4
2:220283447 DES T>C	2	220283447	220283447	T	C	DES	c.263T>C	NM_001927.3	NP_001918.3:p.(Leu88Pro)	NC_000002.11:g.220283447T>C	VUS	1 lab	a8ac9f9cb7
1:115251173 NRAS G>A	1	115251173	115251173	G	A	NRAS				NC_000001.10:g.115251173G>A	(Likely) benign	1 lab	3504e3ea3a
8:143996157 CYP11B2 C>A	8	143996157	143996157	C	A	CYP11B2	c.763G>T	NM_000498.3	NP_000489.3:p.(Glu255Ter)	NC_000008.10:g.143996157C>A	(Likely) pathogenic	1 lab	a8b1152a46
17:41223161 BRCA1 A>G	17	41223161	41223161	A	G	BRCA1	c.4770T>C	NM_007294.3	NP_009225.1:p.(Val1590=)	NC_000017.10:g.41223161A>G	(Likely) benign	1 lab	a8b28d51ad
1:216591969 USH2A A>G	1	216591969	216591969	A	G	USH2A	c.538T>C	NM_206933.2	NP_996816.2:p.(Ser180Pro)	NC_000001.10:g.216591969A>G	(Likely) pathogenic	1 lab	a8b38cb6e1
5:112128185 APC C>T	5	112128185	112128185	C	T	APC	c.688C>T	NM_000038.6	NP_000029.2:p.(Arg230Cys)	NC_000005.9:g.112128185C>T	(Likely) benign	1 lab	a8b57715d3
18:59821771 PIGN CACAAACCT>C	18	59821771	59821779	CACAAACCT	C	PIGN				NC_000018.9:g.59821772_59821779del	(Likely) pathogenic	1 lab	a8b73c8c44
15:43017426 CDAN1 T>G	15	43017426	43017426	T	G	CDAN1	c.3474A>C	NM_138477.2	NP_612486.2:p.(Leu1158=)	NC_000015.9:g.43017426T>G	(Likely) benign	1 lab	a8b892836f
2:167262780 SCN7A A>C	2	167262780	167262780	A	C	SCN7A	c.4359T>G	NM_002976.3	NP_002967.2:p.(Pro1453=)	NC_000002.11:g.167262780A>C	(Likely) benign	1 lab	a8b8b3b5dc
19:1220723 STK11 GC>G	19	1220723	1220727	GC	G	STK11	c.734+11del	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220727del	(Likely) benign	1 lab	a8b8e7568e
6:76601028 MYO6 G>A	6	76601028	76601028	G	A	MYO6	c.2946+5G>A	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76601028G>A	(Likely) pathogenic	1 lab	a8b972d13c
4:166910602 TLL1 A>G	4	166910602	166910602	A	G	TLL1	c.239A>G	NM_012464.4	NP_036596.3:p.(Asp80Gly)	NC_000004.11:g.166910602A>G	VUS	1 lab	a8bdfc0c09
13:111156220 COL4A2 G>A	13	111156220	111156220	G	A	COL4A2	c.4165G>A	NM_001846.3	NP_001837.2:p.(Gly1389Arg)	NC_000013.10:g.111156220G>A	(Likely) pathogenic	1 lab	a8c194f2ff
11:61727036 BEST1 G>A	11	61727036	61727036	G	A	BEST1	c.934G>A	NM_004183.3	NP_004174.1:p.(Asp312Asn)	NC_000011.9:g.61727036G>A	(Likely) pathogenic	1 lab	a8c4b03d20
15:26806306 GABRB3 T>C	15	26806306	26806306	T	C	GABRB3	c.853A>G	NM_000814.5	NP_000805.1:p.(Thr285Ala)	NC_000015.9:g.26806306T>C	VUS	1 lab	a8caa4cf17
2:180829277 CWC22 G>A	2	180829277	180829277	G	A	CWC22	c.1394C>T	NM_020943.2	NP_065994.1:p.(Ser465Leu)	NC_000002.11:g.180829277G>A	VUS	1 lab	a8cb0c880b
2:240944673 NDUFA10 G>A	2	240944673	240944673	G	A	NDUFA10	c.844C>T	NM_004544.3	NP_004535.1:p.(Pro282Ser)	NC_000002.11:g.240944673G>A	VUS	1 lab	a8cc64a117
12:32908237 YARS2 C>A	12	32908237	32908237	C	A	YARS2	c.572G>T	NM_001040436.2	NP_001035526.1:p.(Gly191Val)	NC_000012.11:g.32908237C>A	VUS	1 lab	a8cc815430
3:38627463 SCN5A C>T	3	38627463	38627463	C	T	SCN5A	c.2506G>A	NM_198056.2	NP_932173.1:p.(Val836Met)	NC_000003.11:g.38627463C>T	VUS	1 lab	a8ccf5c7b1
4:6578345 MAN2B2 T>G	4	6578345	6578345	T	G	MAN2B2	c.179T>G	NM_015274.3	NP_056089.1:p.(Val60Gly)	NC_000004.11:g.6578345T>G	VUS	1 lab	0b67fc95c0
11:108201008 ATM C>G	11	108201008	108201008	C	G	ATM	c.7375C>G	NM_000051.3	NP_000042.3:p.(Arg2459Gly)	NC_000011.9:g.108201008C>G	VUS	1 lab	a8cd5fcc44
9:712473 KANK1 G>C	9	712473	712473	G	C	KANK1	c.1707G>C	NM_015158.5	NP_055973.2:p.(Trp569Cys)	NC_000009.11:g.712473G>C	VUS	1 lab	0b406b38c0
11:61068316 DDB1 G>A	11	61068316	61068316	G	A	DDB1	c.3304C>T	NM_001923.5	NP_001914.3:p.(Arg1102Cys)	NC_000011.9:g.61068316G>A	VUS	1 lab	0b407a31ba
2:47748388 MSH2 G>A	2	47748388	47748388	G	A	MSH2				NC_000002.11:g.47748388G>A	(Likely) benign	1 lab	a8d10db13d
22:51154182 SHANK3 G>A	22	51154182	51154182	G	A	SHANK3	c.2575+1G>A	NM_001372044.1	NP_001358973.1:p.?	NC_000022.10:g.51154182G>A	(Likely) pathogenic	1 lab	1052e63071
1:216270538 USH2A G>A	1	216270538	216270538	G	A	USH2A	c.4645C>T	NM_206933.2	NP_996816.2:p.(Arg1549Ter)	NC_000001.10:g.216270538G>A	(Likely) pathogenic	1 lab	a8d2114e7b
14:101004779 BEGAIN C>T	14	101004779	101004779	C	T	BEGAIN	c.1309G>A	NM_020836.3	NP_065887.1:p.(Gly437Ser)	NC_000014.8:g.101004779C>T	VUS	1 lab	a8d5169ca0
1:201331528 TNNT2 C>T	1	201331528	201331528	C	T	TNNT2	c.571-6G>A	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201331528C>T	(Likely) benign	1 lab	105484e800
2:152506725 NEB C>G	2	152506725	152506725	C	G	NEB	c.7396G>C	NM_001271208.1	NP_001258137.1:p.(Val2466Leu)	NC_000002.11:g.152506725C>G	VUS	1 lab	a8da76f08b
16:56914117 SLC12A3 C>T	16	56914117	56914117	C	T	SLC12A3	c.1519C>T	NM_000339.3	NP_000330.3:p.(Arg507Cys)	NC_000016.9:g.56914117C>T	VUS	1 lab	a8dab3b202
2:209190528 PIKFYVE C>G	2	209190528	209190528	C	G	PIKFYVE	c.2993C>G	NM_015040.4	NP_055855.2:p.(Thr998Ser)	NC_000002.11:g.209190528C>G	(Likely) benign	1 lab	0b44ee2043
4:5841279 MISSING G>A	4	5841279	5841279	G	A	MISSING				NC_000004.11:g.5841279G>A	VUS	1 lab	a8e1fc5998
7:143029931 CLCN1 G>A	7	143029931	143029931	G	A	CLCN1	c.1366G>A	NM_000083.2	NP_000074.2:p.(Val456Ile)	NC_000007.13:g.143029931G>A	VUS	1 lab	a8e64e2319
4:5733222 EVC C>T	4	5733222	5733222	C	T	EVC	c.455C>T	NM_153717.3	NP_714928.1:p.(Pro152Leu)	NC_000004.11:g.5733222C>T	VUS	1 lab	0b471be9f3
2:47641488 MSH2 GAC>G	2	47641488	47641490	GAC	G	MSH2	c.874_875del	NM_000251.3	NP_000242.1:p.(Thr292TyrfsTer3)	NC_000002.11:g.47641489_47641490del	(Likely) pathogenic	1 lab	a8e9fd811e
7:154598734 DPP6 G>C	7	154598734	154598734	G	C	DPP6	c.1578G>C	NM_130797.4	NP_570629.2:p.(Gln526His)	NC_000007.13:g.154598734G>C	VUS	1 lab	a8eb6d43ad
9:117849045 TNC C>T	9	117849045	117849045	C	T	TNC	c.965G>A	NM_002160.4	NP_002151.2:p.(Arg322Gln)	NC_000009.11:g.117849045C>T	VUS	1 lab	a8ebdf600d
2:227886785 COL4A4 T>A	2	227886785	227886785	T	A	COL4A4	c.4195A>T	NM_000092.4	NP_000083.3:p.(Met1399Leu)	NC_000002.11:g.227886785T>A	(Likely) benign	1 lab	1054e1c4dc
7:91645502 AKAP9 A>G	7	91645502	91645502	A	G	AKAP9	c.3672A>G	NM_005751.4	NP_005742.4:p.(Ala1224=)	NC_000007.13:g.91645502A>G	(Likely) benign	1 lab	1055fb94a2
7:142459659 PRSS1 G>A	7	142459659	142459659	G	A	PRSS1	c.235G>A	NM_002769.4	NP_002760.1:p.(Glu79Lys)	NC_000007.13:g.142459659G>A	VUS	1 lab	a8f732b2f1
9:139840619 C8G G>A	9	139840619	139840619	G	A	C8G	c.429G>A	NM_000606.3	NP_000597.2:p.(Ala143=)	NC_000009.11:g.139840619G>A	(Likely) benign	1 lab	10561b6701
8:87588198 CNGB3 T>C	8	87588198	87588198	T	C	CNGB3				NC_000008.10:g.87588198T>C	(Likely) benign	1 lab	a8faa97943
12:23696156 SOX5 C>T	12	23696156	23696156	C	T	SOX5	c.1760G>A	NM_006940.4	NP_008871.3:p.(Ser587Asn)	NC_000012.11:g.23696156C>T	(Likely) pathogenic	1 lab	a8fd01f1b1
6:31905130 C2 G>A	6	31905130	31905130	G	A	C2	c.1023G>A	NM_000063.5	NP_000054.2:p.(Ala341=)	NC_000006.11:g.31905130G>A	(Likely) benign	1 lab	a8fe59e83a
12:32974245 PKP2 C>T	12	32974245	32974245	C	T	PKP2	c.2145+45G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32974245C>T	(Likely) benign	1 lab	a8fee87dbe
4:147788736 TTC29 C>T	4	147788736	147788736	C	T	TTC29	c.878-1G>A	NM_001300761.2	NP_001287690.1:p.?	NC_000004.11:g.147788736C>T	(Likely) pathogenic	1 lab	a8ff5b4fba
18:12360008 AFG3L2 G>A	18	12360008	12360008	G	A	AFG3L2	c.670C>T	NM_006796.2	NP_006787.2:p.(Arg224Trp)	NC_000018.9:g.12360008G>A	VUS	1 lab	a9001238cc
2:47672650 MSH2 G>T	2	47672650	47672650	G	T	MSH2	c.1277-37G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672650G>T	(Likely) benign	1 lab	a90295a4db
5:88027698 MEF2C G>A	5	88027698	88027698	G	A	MEF2C	c.712C>T	NM_001193347.1	NP_001180276.1:p.(Arg238Ter)	NC_000005.9:g.88027698G>A	(Likely) pathogenic	1 lab	a906f9559c
1:150064155 VPS45 T>C	1	150064155	150064155	T	C	VPS45	c.1229T>C	NM_007259.4	NP_009190.2:p.(Leu410Pro)	NC_000001.10:g.150064155T>C	(Likely) pathogenic	1 lab	a9079eb7b5
9:95480867 BICD2 C>T	9	95480867	95480867	C	T	BICD2	c.2060G>A	NM_001003800.2	NP_001003800.1:p.(Arg687Gln)	NC_000009.11:g.95480867C>T	VUS	1 lab	a908c7a90d
7:80299332 CD36 T>C	7	80299332	80299332	T	C	CD36	c.812T>C	NM_001001548.2	NP_001001548.1:p.(Ile271Thr)	NC_000007.13:g.80299332T>C	VUS	1 lab	a909b0e9fc
2:179433007 TTN T>G	2	179433007	179433007	T	G	TTN	c.77852A>C	NM_001267550.2	NP_001254479.2:p.(Lys25951Thr)	NC_000002.11:g.179433007T>G	VUS	1 lab	a909d7c74f
7:128498298 FLNC C>T	7	128498298	128498298	C	T	FLNC	c.7990+27C>T	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498298C>T	(Likely) benign	1 lab	a90afa501a
3:172163184 GHSR AG>A	3	172163184	172163186	AG	A	GHSR	c.867del	NM_198407.2	NP_940799.1:p.(Phe290LeufsTer62)	NC_000003.11:g.172163186del	VUS	1 lab	a90c20d82f
X:62916898 ARHGEF9 T>C	X	62916898	62916898	T	C	ARHGEF9	c.561+107A>G	NM_015185.3	NP_056000.1:p.?	NC_000023.10:g.62916898T>C	(Likely) benign	1 lab	10573c776b
19:13320244 CACNA1A G>A	19	13320244	13320244	G	A	CACNA1A	c.6426C>T	NM_023035.3	NP_075461.2:p.(Asp2142=)	NC_000019.9:g.13320244G>A	(Likely) benign	1 lab	105db21ce3
16:23641380 PALB2 A>T	16	23641380	23641380	A	T	PALB2	c.2095T>A	NM_024675.4	NP_078951.2:p.(Ser699Thr)	NC_000016.9:g.23641380A>T	VUS	1 lab	a917c7c2a8
14:64319870 SYNE2 G>A	14	64319870	64319870	G	A	SYNE2	c.-52+9G>A	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64319870G>A	(Likely) benign	1 lab	1060266e45
2:166894485 SCN1A T>C	2	166894485	166894485	T	C	SCN1A	c.2747A>G	NM_001165963.1	NP_001159435.1:p.(Tyr916Cys)	NC_000002.11:g.166894485T>C	VUS	1 lab	a917e688fd
4:47973110 CNGA1 G>A	4	47973110	47973110	G	A	CNGA1	c.8C>T	NM_001142564.1	NP_001136036.1:p.(Ser3Phe)	NC_000004.11:g.47973110G>A	(Likely) benign	1 lab	a918d9a1f0
19:13321439 CACNA1A T>C	19	13321439	13321439	T	C	CACNA1A	c.6349A>G	NM_023035.3	NP_075461.2:p.(Asn2117Asp)	NC_000019.9:g.13321439T>C	(Likely) benign	1 lab	10623c27c2
X:82764306 POU3F4 G>C	X	82764306	82764306	G	C	POU3F4				NC_000023.10:g.82764306G>C	(Likely) pathogenic	1 lab	a91a9efb5e
5:122729136 CEP120 T>C	5	122729136	122729136	T	C	CEP120	c.668A>G	NM_153223.3	NP_694955.2:p.(Tyr223Cys)	NC_000005.9:g.122729136T>C	VUS	1 lab	a91c8c7a26
14:77765116 POMT2 T>A	14	77765116	77765116	T	A	POMT2	c.924-2A>T	NM_013382.5	NP_037514.2:p.?	NC_000014.8:g.77765116T>A	(Likely) pathogenic	1 lab	a91fabf06d
9:100437757 XPA AGTACAAGTCTTACG>A	9	100437757	100437776	AGTACAAGTCTTACG	A	XPA	c.772_785del	NM_000380.4	NP_000371.1:p.(Arg258TyrfsTer5)	NC_000009.11:g.100437763_100437776del	(Likely) pathogenic	1 lab	a9229056a0
X:53239750 KDM5C G>A	X	53239750	53239750	G	A	KDM5C				NC_000023.10:g.53239750G>A	VUS	1 lab	a9232660ca
4:114276002 ANK2 G>T	4	114276002	114276002	G	T	ANK2	c.6228G>T	NM_001148.5	NP_001139.3:p.(Lys2076Asn)	NC_000004.11:g.114276002G>T	(Likely) benign	1 lab	a924067d59
6:10398670 TFAP2A CTT>C	6	10398670	10398673	CTT	C	TFAP2A	c.1292_1293del	NM_003220.2	NP_003211.1:p.(Lys431ArgfsTer30)	NC_000006.11:g.10398672_10398673del	(Likely) pathogenic	1 lab	a92440086f
3:9515179 SETD5 C>A	3	9515179	9515179	C	A	SETD5	c.3455C>A	NM_001080517.1	NP_001073986.1:p.(Ser1152Tyr)	NC_000003.11:g.9515179C>A	(Likely) benign	1 lab	a9244bfb19
1:114438940 AP4B1 A>C	1	114438940	114438940	A	C	AP4B1	c.1450T>G	NM_006594.5	NP_006585.2:p.(Phe484Val)	NC_000001.10:g.114438940A>C	VUS	1 lab	0b556c3b29
5:112174466 APC G>T	5	112174466	112174466	G	T	APC	c.3175G>T	NM_000038.6	NP_000029.2:p.(Glu1059Ter)	NC_000005.9:g.112174466G>T	(Likely) pathogenic	1 lab	a925d4283e
1:196658729 CFH G>A	1	196658729	196658729	G	A	CFH	c.1144G>A	NM_000186.4	NP_000177.2:p.(Ala382Thr)	NC_000001.10:g.196658729G>A	VUS	1 lab	a925f39638
16:2546883 TBC1D24 T>C	16	2546883	2546883	T	C	TBC1D24	c.734T>C	NM_001199107.1	NP_001186036.1:p.(Leu245Pro)	NC_000016.9:g.2546883T>C	VUS	1 lab	a929565b1a
6:79688310 PHIP T>C	6	79688310	79688310	T	C	PHIP	c.2888A>G	NM_017934.6	NP_060404.4:p.(Glu963Gly)	NC_000006.11:g.79688310T>C	VUS	1 lab	a92ecd3988
17:76510927 MISSING G>A	17	76510927	76510927	G	A	MISSING				NC_000017.10:g.76510927G>A	(Likely) pathogenic	1 lab	a9373cc0a6
14:51087347 ATL1 A>G	14	51087347	51087347	A	G	ATL1	c.893A>G	NM_015915.4	NP_056999.2:p.(Lys298Arg)	NC_000014.8:g.51087347A>G	VUS	1 lab	a93a09cd34
2:167134816 SCN9A G>C	2	167134816	167134816	G	C	SCN9A	c.2318C>G	NM_002977.3	NP_002968.1:p.(Thr773Ser)	NC_000002.11:g.167134816G>C	VUS	1 lab	a93ceae81a
X:152959871 SLC6A8 T>C	X	152959871	152959871	T	C	SLC6A8	c.1465T>C	NM_005629.4	NP_005620.1:p.(Trp489Arg)	NC_000023.10:g.152959871T>C	(Likely) pathogenic	1 lab	a940c8d9ff
3:135974764 PCCB A>G	3	135974764	135974764	A	G	PCCB	c.250A>G	NM_001178014.1	NP_001171485.1:p.(Met84Val)	NC_000003.11:g.135974764A>G	VUS	1 lab	a940e15ebb
4:77662800 SHROOM3 C>G	4	77662800	77662800	C	G	SHROOM3	c.3474C>G	NM_020859.3	NP_065910.3:p.(Ala1158=)	NC_000004.11:g.77662800C>G	(Likely) benign	1 lab	a9424adb78
9:124088814 GSN C>A	9	124088814	124088814	C	A	GSN	c.1594C>A	NM_000177.5	NP_000168.1:p.(Pro532Thr)	NC_000009.11:g.124088814C>A	VUS	1 lab	0b574f101e
17:61151363 TANC2 C>T	17	61151363	61151363	C	T	TANC2	c.127C>T	NM_025185.4	NP_079461.2:p.(Arg43Cys)	NC_000017.10:g.61151363C>T	(Likely) benign	1 lab	106486b540
2:165948810 SCN3A T>C	2	165948810	165948810	T	C	SCN3A	c.4761A>G	NM_006922.3	NP_008853.3:p.(Ile1587Met)	NC_000002.11:g.165948810T>C	VUS	1 lab	a9441de3dc
X:70626501 TAF1 C>T	X	70626501	70626501	C	T	TAF1	c.4072C>T	NM_001286074.1	NP_001273003.1:p.(Arg1358Cys)	NC_000023.10:g.70626501C>T	(Likely) pathogenic	1 lab	a948de15c0
19:33392223 CEP89 A>G	19	33392223	33392223	A	G	CEP89	c.1661T>C	NM_032816.5	NP_116205.3:p.(Leu554Ser)	NC_000019.9:g.33392223A>G	(Likely) benign	1 lab	0b57a55fae
12:13768132 GRIN2B C>T	12	13768132	13768132	C	T	GRIN2B	c.1570G>A	NM_000834.3	NP_000825.2:p.(Asp524Asn)	NC_000012.11:g.13768132C>T	VUS	1 lab	a94a1e520f
3:9976291 CRELD1 A>T	3	9976291	9976291	A	T	CRELD1	c.169A>T	NM_001031717.3	NP_001026887.1:p.(Asn57Tyr)	NC_000003.11:g.9976291A>T	(Likely) benign	1 lab	a9566d98d7
12:80733008 OTOGL C>T	12	80733008	80733008	C	T	OTOGL				NC_000012.11:g.80733008C>T	(Likely) pathogenic	1 lab	a957f6998e
2:179644226 TTN T>A	2	179644226	179644226	T	A	TTN	c.3730-37A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179644226T>A	(Likely) benign	1 lab	a958f8214b
2:1926517 MYT1L T>A	2	1926517	1926517	T	A	MYT1L				NC_000002.11:g.1926517T>A	(Likely) benign	1 lab	a95dd619cd
1:156105931 LMNA G>A	1	156105931	156105931	G	A	LMNA	c.1157+19G>A	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105931G>A	(Likely) benign	1 lab	a95df2464a
17:17919931 ATPAF2 C>T	17	17919931	17919931	C	T	ATPAF2				NC_000017.10:g.17919931C>T	VUS	1 lab	b6f9bb917e
3:132403657 NPHP3 A>G	3	132403657	132403657	A	G	NPHP3	c.3330-19T>C	NM_153240.5	NP_694972.3:p.?	NC_000003.11:g.132403657A>G	(Likely) benign	1 lab	10655317da
18:29178544 TTR C>A	18	29178544	29178544	C	A	TTR	c.350C>A	NM_000371.4	NP_000362.1:p.(Ala117Asp)	NC_000018.9:g.29178544C>A	VUS	1 lab	0b57db0bae
17:76134302 TMC8 G>A	17	76134302	76134302	G	A	TMC8	c.1533+33G>A	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76134302G>A	(Likely) benign	1 lab	a96529bb6c
18:21119369 NPC1 G>A	18	21119369	21119369	G	A	NPC1	c.2861C>T	NM_000271.5	NP_000262.2:p.(Ser954Leu)	NC_000018.9:g.21119369G>A	(Likely) pathogenic	1 lab	0b60d9a31b
2:189851845 COL3A1 G>C	2	189851845	189851845	G	C	COL3A1	c.508G>C	NM_000090.3	NP_000081.1:p.(Ala170Pro)	NC_000002.11:g.189851845G>C	VUS	1 lab	106a11a841
3:37081828 MLH1 A>G	3	37081828	37081828	A	G	MLH1	c.1667+43A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37081828A>G	(Likely) benign	1 lab	a9782b2be4
14:23893148 MYH7 C>T	14	23893148	23893148	C	T	MYH7	c.2890G>A	NM_000257.3	NP_000248.2:p.(Val964Met)	NC_000014.8:g.23893148C>T	VUS	1 lab	a97ab4a06b
2:167266422 SCN7A A>G	2	167266422	167266422	A	G	SCN7A	c.3735T>C	NM_002976.3	NP_002967.2:p.(Phe1245=)	NC_000002.11:g.167266422A>G	(Likely) benign	1 lab	a97b29f471
11:76925721 MYO7A G>C	11	76925721	76925721	G	C	MYO7A				NC_000011.9:g.76925721G>C	VUS	1 lab	a97c4edfe8
2:228110686 COL4A3 C>T	2	228110686	228110686	C	T	COL4A3	c.341C>T	NM_000091.4	NP_000082.2:p.(Thr114Ile)	NC_000002.11:g.228110686C>T	(Likely) benign	1 lab	a97c65cad5
4:110673648 CFI T>C	4	110673648	110673648	T	C	CFI	c.916A>G	NM_000204.4	NP_000195.2:p.(Ile306Val)	NC_000004.11:g.110673648T>C	(Likely) benign	1 lab	a98018ba82
10:73565624 CDH23 A>C	10	73565624	73565624	A	C	CDH23	c.7934A>C	NM_022124.5	NP_071407.4:p.(Asn2645Thr)	NC_000010.10:g.73565624A>C	VUS	1 lab	a981e1425d
2:230632449 TRIP12 G>T	2	230632449	230632449	G	T	TRIP12	c.6028C>A	NM_001348328.1	NP_001335257.1:p.(Pro2010Thr)	NC_000002.11:g.230632449G>T	(Likely) pathogenic	1 lab	a98288f63d
20:31998031 SNTA1 C>T	20	31998031	31998031	C	T	SNTA1	c.1147G>A	NM_003098.2	NP_003089.1:p.(Val383Met)	NC_000020.10:g.31998031C>T	VUS	1 lab	a9a42a9331
11:108114799 ATM A>C	11	108114799	108114799	A	C	ATM	c.616A>C	NM_000051.4	NP_000042.3:p.(Asn206His)	NC_000011.9:g.108114799A>C	VUS	1 lab	a985d00756
11:77090420 PAK1 T>G	11	77090420	77090420	T	G	PAK1	c.305A>C	NM_001128620.1	NP_001122092.1:p.(Gln102Pro)	NC_000011.9:g.77090420T>G	VUS	1 lab	a985d0d997
22:32887093 FBXO7 T>G	22	32887093	32887093	T	G	FBXO7	c.892T>G	NM_012179.3	NP_036311.3:p.(Tyr298Asp)	NC_000022.10:g.32887093T>G	VUS	1 lab	a98cc9b6cd
12:6094719 VWF G>A	12	6094719	6094719	G	A	VWF	c.6901+10C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6094719G>A	(Likely) benign	1 lab	a98e5f601d
6:152576727 SYNE1 T>C	6	152576727	152576727	T	C	SYNE1	c.19259A>G	NM_182961.3	NP_892006.3:p.(Glu6420Gly)	NC_000006.11:g.152576727T>C	VUS	1 lab	a991f8a3da
X:153296662 MECP2 C>G	X	153296662	153296662	C	G	MECP2	c.617G>C	NM_004992.3	NP_004983.1:p.(Gly206Ala)	NC_000023.10:g.153296662C>G	(Likely) benign	1 lab	a9925c3827
9:126135936 CRB2 G>C	9	126135936	126135936	G	C	CRB2	c.3126G>C	NM_173689.6	NP_775960.4:p.(Ala1042=)	NC_000009.11:g.126135936G>C	(Likely) benign	1 lab	a9958d211a
19:6697712 C3 A>G	19	6697712	6697712	A	G	C3	c.2534T>C	NM_000064.4	NP_000055.2:p.(Val845Ala)	NC_000019.9:g.6697712A>G	VUS	1 lab	a9966c6d4e
9:2110355 SMARCA2 G>C	9	2110355	2110355	G	C	SMARCA2				NC_000009.11:g.2110355G>C	(Likely) pathogenic	1 lab	a99b3f9b80
6:65229204 EYS T>C	6	65229204	65229204	T	C	EYS	c.5644+70912A>G	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65229204T>C	(Likely) pathogenic	1 lab	a99b7e2645
2:114004425 PAX8 G>A	2	114004425	114004425	G	A	PAX8	c.97C>T	NM_003466.4	NP_003457.1:p.(Arg33Cys)	NC_000002.11:g.114004425G>A	VUS	1 lab	a9a428a0c9
2:166243436 SCN2A T>C	2	166243436	166243436	T	C	SCN2A	c.4732T>C	NM_021007.2	NP_066287.2:p.(Cys1578Arg)	NC_000002.11:g.166243436T>C	(Likely) pathogenic	1 lab	a9ef809f72
6:42626583 UBR2 A>AAT	6	42626583	42626585	A	AAT	UBR2	c.3242+22_3242+23dup	NM_015255.2	NP_056070.1:p.?	NC_000006.11:g.42626584_42626585dup	(Likely) benign	1 lab	10764d8d36
12:109547586 UNG A>T	12	109547586	109547586	A	T	UNG	c.775-48A>T	NM_003362.4	NP_003353.1:p.?	NC_000012.11:g.109547586A>T	(Likely) benign	1 lab	1098cf2c9e
10:27306626 ANKRD26 C>A	10	27306626	27306626	C	A	ANKRD26	c.4311G>T	NM_014915.2	NP_055730.2:p.(Met1437Ile)	NC_000010.10:g.27306626C>A	VUS	1 lab	a9a61e50d7
2:220285656 DES T>C	2	220285656	220285656	T	C	DES				NC_000002.11:g.220285656T>C	VUS	1 lab	a9adb78da8
16:2820353 SRRM2 G>A	16	2820353	2820353	G	A	SRRM2	c.8022G>A	NM_016333.4	NP_057417.3:p.(Arg2674=)	NC_000016.9:g.2820353G>A	(Likely) benign	1 lab	0b641c1e8c
12:110238471 TRPV4 G>A	12	110238471	110238471	G	A	TRPV4	c.805C>T	NM_021625.4	NP_067638.3:p.(Arg269Cys)	NC_000012.11:g.110238471G>A	(Likely) pathogenic	1 lab	a9b13f9a81
11:6412870 SMPD1 G>GC	11	6412870	6412876	G	GC	SMPD1	c.581dup	NM_000543.4	NP_000534.3:p.(Ala195SerfsTer14)	NC_000011.9:g.6412876dup	(Likely) pathogenic	1 lab	a9b30aadce
22:51064671 ARSA G>T	22	51064671	51064671	G	T	ARSA	c.890C>A	NM_001085425.2	NP_001078894.2:p.(Ser297Tyr)	NC_000022.10:g.51064671G>T	(Likely) pathogenic	1 lab	a9b3644d3e
17:54672018 NOG T>C	17	54672018	54672018	T	C	NOG				NC_000017.10:g.54672018T>C	VUS	1 lab	a9b683f59d
15:78456059 IDH3A T>C	15	78456059	78456059	T	C	IDH3A	c.716T>C	NM_005530.2	NP_005521.1:p.(Met239Thr)	NC_000015.9:g.78456059T>C	VUS	1 lab	a9bbb16ecc
6:135784293 AHI1 G>T	6	135784293	135784293	G	T	AHI1	c.901C>A	NM_017651.4	NP_060121.3:p.(Pro301Thr)	NC_000006.11:g.135784293G>T	(Likely) benign	1 lab	38f69f59da
6:74320190 SLC17A5 T>C	6	74320190	74320190	T	C	SLC17A5	c.1192A>G	NM_012434.4	NP_036566.1:p.(Ile398Val)	NC_000006.11:g.74320190T>C	VUS	1 lab	a9bce16ba6
2:167262211 SCN7A C>T	2	167262211	167262211	C	T	SCN7A	c.4928G>A	NM_002976.4	NP_002967.2:p.(Arg1643Gln)	NC_000002.11:g.167262211C>T	(Likely) benign	1 lab	a9bda2b0b6
4:55589770 KIT TACG>T	4	55589770	55589775	TACG	T	KIT	c.1255_1257del	NM_000222.3	NP_000213.1:p.(Asp419del)	NC_000004.11:g.55589773_55589775del	(Likely) pathogenic	1 lab	a9be3b9b1a
10:88678966 BMPR1A G>A	10	88678966	88678966	G	A	BMPR1A	c.906G>A	NM_004329.2	NP_004320.2:p.(Trp302Ter)	NC_000010.10:g.88678966G>A	(Likely) pathogenic	1 lab	a9c02478b2
13:48942685 RB1 C>T	13	48942685	48942685	C	T	RB1	c.1072C>T	NM_000321.3	NP_000312.2:p.(Arg358Ter)	NC_000013.10:g.48942685C>T	(Likely) pathogenic	1 lab	0b66322e7c
X:70356197 MED12 G>A	X	70356197	70356197	G	A	MED12	c.5092G>A	NM_005120.2	NP_005111.2:p.(Ala1698Thr)	NC_000023.10:g.70356197G>A	VUS	1 lab	a9c5084bb7
2:49191041 FSHR C>T	2	49191041	49191041	C	T	FSHR	c.919G>A	NM_000145.4	NP_000136.2:p.(Ala307Thr)	NC_000002.11:g.49191041C>T	(Likely) benign	1 lab	0b668e5c32
4:190883047 FRG1 G>A	4	190883047	190883047	G	A	FRG1	c.700G>A	NM_004477.3	NP_004468.1:p.(Ala234Thr)	NC_000004.11:g.190883047G>A	(Likely) benign	1 lab	0b68c02837
13:32972574 BRCA2 C>G	13	32972574	32972574	C	G	BRCA2	c.9924C>G	NM_000059.3	NP_000050.2:p.(Tyr3308Ter)	NC_000013.10:g.32972574C>G	(Likely) pathogenic	1 lab	a9ce29745e
2:179434119 TTN C>T	2	179434119	179434119	C	T	TTN	c.76740G>A	NM_001267550.2	NP_001254479.2:p.(Thr25580=)	NC_000002.11:g.179434119C>T	(Likely) benign	1 lab	a9d03d4731
18:29178573 TTR A>G	18	29178573	29178573	A	G	TTR	c.379A>G	NM_000371.3	NP_000362.1:p.(Ile127Val)	NC_000018.9:g.29178573A>G	(Likely) pathogenic	1 lab	a9d17083a0
16:85689982 GSE1 G>GGAGCGC	16	85689982	85690005	G	GGAGCGC	GSE1	c.1041_1046dup	NM_014615.5	NP_055430.1:p.(Arg351_Glu352dup)	NC_000016.9:g.85690000_85690005dup	(Likely) benign	1 lab	0b6b839301
22:21348032 LZTR1 G>A	22	21348032	21348032	G	A	LZTR1	c.1342G>A	NM_006767.3	NP_006758.2:p.(Val448Met)	NC_000022.10:g.21348032G>A	(Likely) benign	1 lab	a9d18e9d67
2:48132751 FBXO11 G>A	2	48132751	48132751	G	A	FBXO11				NC_000002.11:g.48132751G>A	(Likely) pathogenic	1 lab	a9dae2c14c
16:89335044 ANKRD11 C>T	16	89335044	89335044	C	T	ANKRD11	c.7834G>A	NM_013275.6	NP_037407.4:p.(Glu2612Lys)	NC_000016.9:g.89335044C>T	VUS	1 lab	a9db755fd9
3:12625930 RAF1 G>A	3	12625930	12625930	G	A	RAF1	c.*83C>T	NM_002880.3	NP_002871.1:p.?	NC_000003.11:g.12625930G>A	(Likely) benign	1 lab	a9e1d379a1
8:117878968 RAD21 T>C	8	117878968	117878968	T	C	RAD21	c.1A>G	NM_006265.2	NP_006256.1:p.(Met1?)	NC_000008.10:g.117878968T>C	(Likely) pathogenic	1 lab	a9e31c56de
7:151292555 PRKAG2 G>GA	7	151292555	151292556	G	GA	PRKAG2	c.755-16_755-15insT	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151292555_151292556insA	(Likely) benign	1 lab	a9eb349bfb
8:61734481 CHD7 C>T	8	61734481	61734481	C	T	CHD7	c.2830C>T	NM_017780.3	NP_060250.2:p.(Arg944Cys)	NC_000008.10:g.61734481C>T	VUS	1 lab	a9f1697a30
X:70147159 SLC7A3 A>T	X	70147159	70147159	A	T	SLC7A3				NC_000023.10:g.70147159A>T	(Likely) benign	1 lab	a9f22ca901
7:44189579 GCK T>C	7	44189579	44189579	T	C	GCK				NC_000007.13:g.44189579T>C	(Likely) benign	1 lab	a9f36e5c5d
22:40045754 CACNA1I G>A	22	40045754	40045754	G	A	CACNA1I	c.1816G>A	NM_021096.4	NP_066919.2:p.(Gly606Arg)	NC_000022.10:g.40045754G>A	VUS	1 lab	0b6cb27ffe
10:126107506 OAT A>C	10	126107506	126107506	A	C	OAT	c.-94T>G	NM_000274.3	NP_000265.1:p.?	NC_000010.10:g.126107506A>C	(Likely) benign	1 lab	a9f3c4a351
5:179251324 SQSTM1 G>T	5	179251324	179251324	G	T	SQSTM1	c.673+1G>T	NM_003900.5	NP_003891.1:p.?	NC_000005.9:g.179251324G>T	(Likely) pathogenic	1 lab	a9f4abd42f
13:32929448 BRCA2 A>G	13	32929448	32929448	A	G	BRCA2	c.7435+23A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32929448A>G	VUS	1 lab	aba05d5f05
6:151751272 RMND1 C>G	6	151751272	151751272	C	G	RMND1	c.729+1G>C	NM_017909.3	NP_060379.2:p.?	NC_000006.11:g.151751272C>G	(Likely) pathogenic	1 lab	a9fa507c44
3:37062040 MLH1 T>C	3	37062040	37062040	T	C	MLH1	c.1038+86T>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37062040T>C	(Likely) benign	1 lab	a9fad22e1a
14:64656917 SYNE2 C>T	14	64656917	64656917	C	T	SYNE2	c.18000C>T	NM_182914.2	NP_878918.2:p.(Asn6000=)	NC_000014.8:g.64656917C>T	(Likely) benign	1 lab	a9fd68076a
10:16916484 CUBN T>C	10	16916484	16916484	T	C	CUBN	c.9125A>G	NM_001081.3	NP_001072.2:p.(Asn3042Ser)	NC_000010.10:g.16916484T>C	(Likely) benign	1 lab	107cf98d59
3:128623278 ACAD9 C>G	3	128623278	128623278	C	G	ACAD9	c.1079C>G	NM_014049.4	NP_054768.2:p.(Thr360Ser)	NC_000003.11:g.128623278C>G	(Likely) benign	1 lab	aa03cab9e7
19:35523653 SCN1B G>A	19	35523653	35523653	G	A	SCN1B	c.207+55G>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35523653G>A	(Likely) benign	1 lab	107ee605fa
9:95479978 BICD2 C>T	9	95479978	95479978	C	T	BICD2	c.2258+101G>A	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95479978C>T	(Likely) benign	1 lab	107f253f5a
19:6713260 C3 G>A	19	6713260	6713260	G	A	C3	c.943C>T	NM_000064.3	NP_000055.2:p.(Arg315Ter)	NC_000019.9:g.6713260G>A	(Likely) pathogenic	1 lab	aa0a04b55a
11:118039454 SCN2B C>T	11	118039454	118039454	C	T	SCN2B				NC_000011.9:g.118039454C>T	(Likely) benign	1 lab	aa0b27f9ce
18:42281511 SETBP1 G>T	18	42281511	42281511	G	T	SETBP1	c.200G>T	NM_015559.3	NP_056374.2:p.(Arg67Leu)	NC_000018.9:g.42281511G>T	VUS	1 lab	0b710a9126
8:141568603 AGO2 G>A	8	141568603	141568603	G	A	AGO2	c.859C>T	NM_012154.5	NP_036286.2:p.(Arg287Trp)	NC_000008.10:g.141568603G>A	VUS	1 lab	aa0dd0b385
7:151483612 PRKAG2 C>T	7	151483612	151483612	C	T	PRKAG2	c.130G>A	NM_016203.4	NP_057287.2:p.(Ala44Thr)	NC_000007.13:g.151483612C>T	(Likely) benign	1 lab	108005e28c
X:100653857 GLA T>C	X	100653857	100653857	T	C	GLA	c.717A>G	NM_000169.2	NP_000160.1:p.(Ile239Met)	NC_000023.10:g.100653857T>C	(Likely) benign	1 lab	1080477f5b
2:179528570 TTN C>T	2	179528570	179528570	C	T	TTN	c.36424G>A	NM_001267550.2	NP_001254479.2:p.(Glu12142Lys)	NC_000002.11:g.179528570C>T	(Likely) benign	1 lab	aa13939dfe
7:156798551 MNX1 T>C	7	156798551	156798551	T	C	MNX1	c.233A>G	NM_001165255.1	NP_001158727.1:p.(Gln78Arg)	NC_000007.13:g.156798551T>C	(Likely) pathogenic	1 lab	1083fbf364
17:44144025 KANSL1 G>A	17	44144025	44144025	G	A	KANSL1	c.1726C>T	NM_001193466.1	NP_001180395.1:p.(Arg576Ter)	NC_000017.10:g.44144025G>A	(Likely) pathogenic	1 lab	aa1a93b9be
8:145700346 FOXH1 T>A	8	145700346	145700346	T	A	FOXH1	c.373A>T	NM_003923.2	NP_003914.1:p.(Thr125Ser)	NC_000008.10:g.145700346T>A	(Likely) benign	1 lab	aa1c778f48
8:72211441 EYA1 G>A	8	72211441	72211441	G	A	EYA1	c.667C>T	NM_000503.6	NP_000494.2:p.(Gln223Ter)	NC_000008.10:g.72211441G>A	(Likely) pathogenic	1 lab	aa1f640856
11:17663416 OTOG G>A	11	17663416	17663416	G	A	OTOG				NC_000011.9:g.17663416G>A	(Likely) benign	1 lab	aa1f972ae2
X:153171222 AVPR2 G>A	X	153171222	153171222	G	A	AVPR2	c.262G>A	NM_000054.6	NP_000045.1:p.(Val88Met)	NC_000023.10:g.153171222G>A	(Likely) pathogenic	1 lab	aa25a6009d
16:81962205 PLCG2 T>C	16	81962205	81962205	T	C	PLCG2	c.2557T>C	NM_002661.3	NP_002652.2:p.(Leu853=)	NC_000016.9:g.81962205T>C	(Likely) benign	1 lab	108689f9b7
3:38833683 SCN10A T>C	3	38833683	38833683	T	C	SCN10A	c.271-24A>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38833683T>C	(Likely) benign	1 lab	aa289aafae
12:46287278 ARID2 T>TA	12	46287278	46287279	T	TA	ARID2	c.5224dup	NM_152641.3	NP_689854.2:p.(Met1742AsnfsTer18)	NC_000012.11:g.46287279dup	(Likely) pathogenic	1 lab	aa28bd1420
2:220285071 DES A>G	2	220285071	220285071	A	G	DES	c.735+3A>G	NM_001927.4	NP_001918.3:p.?	NC_000002.11:g.220285071A>G	(Likely) pathogenic	1 lab	0b72948418
2:47643573 MSH2 G>A	2	47643573	47643573	G	A	MSH2	c.1076+5G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47643573G>A	VUS	1 lab	aa2a9f9d43
8:37607348 ERLIN2 A>C	8	37607348	37607348	A	C	ERLIN2				NC_000008.10:g.37607348A>C	VUS	1 lab	ad399e0de3
11:76833666 CAPN5 C>T	11	76833666	76833666	C	T	CAPN5	c.1648C>T	NM_004055.4	NP_004046.2:p.(Arg550Cys)	NC_000011.9:g.76833666C>T	(Likely) benign	1 lab	aa2dfe4f72
4:166963224 TLL1 ACAG>A	4	166963224	166963230	ACAG	A	TLL1	c.1311_1313del	NM_012464.4	NP_036596.3:p.(Ser437del)	NC_000004.11:g.166963228_166963230del	VUS	1 lab	aa324a7fb6
1:16354441 CLCNKA TC>T	1	16354441	16354447	TC	T	CLCNKA	c.866+47del	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16354447del	(Likely) benign	1 lab	108985e670
4:114277273 ANK2 C>T	4	114277273	114277273	C	T	ANK2	c.7499C>T	NM_001148.5	NP_001139.3:p.(Thr2500Met)	NC_000004.11:g.114277273C>T	(Likely) benign	1 lab	aa348eb12f
15:75692421 SIN3A T>C	15	75692421	75692421	T	C	SIN3A	c.1814A>G	NM_001145358.2	NP_001138830.1:p.(Tyr605Cys)	NC_000015.9:g.75692421T>C	VUS	1 lab	aa365b60ea
2:47702239 MSH2 C>A	2	47702239	47702239	C	A	MSH2	c.1835C>A	NM_000251.2	NP_000242.1:p.(Ser612Ter)	NC_000002.11:g.47702239C>A	(Likely) pathogenic	1 lab	aa366c1fef
1:152286032 FLG C>T	1	152286032	152286032	C	T	FLG	c.1330G>A	NM_002016.1	NP_002007.1:p.(Gly444Arg)	NC_000001.10:g.152286032C>T	(Likely) benign	1 lab	aa3961f43d
2:167138345 SCN9A A>C	2	167138345	167138345	A	C	SCN9A	c.1942-27T>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138345A>C	VUS	1 lab	aa3c51aa22
X:73812782 RLIM C>G	X	73812782	73812782	C	G	RLIM	c.368G>C	NM_016120.4	NP_057204.2:p.(Arg123Thr)	NC_000023.10:g.73812782C>G	VUS	1 lab	aa42f29c16
7:140434507 BRAF G>A	7	140434507	140434507	G	A	BRAF	c.2191C>T	NM_004333.6	NP_004324.2:p.(Pro731Ser)	NC_000007.13:g.140434507G>A	(Likely) pathogenic	1 lab	aa4810ed41
14:55312483 GCH1 T>C	14	55312483	55312483	T	C	GCH1	c.626+3A>G	NM_000161.3	NP_000152.1:p.?	NC_000014.8:g.55312483T>C	VUS	1 lab	0b75a0d132
2:166164386 SCN2A A>G	2	166164386	166164386	A	G	SCN2A	c.415A>G	NM_021007.2	NP_066287.2:p.(Ile139Val)	NC_000002.11:g.166164386A>G	(Likely) pathogenic	1 lab	aa51189008
11:76867064 MYO7A C>A	11	76867064	76867064	C	A	MYO7A	c.397C>A	NM_000260.4	NP_000251.3:p.(His133Asn)	NC_000011.9:g.76867064C>A	(Likely) pathogenic	1 lab	aa51683a26
17:65665608 PITPNC1 A>AT	17	65665608	65665619	A	AT	PITPNC1	c.463-5dup	NM_181671.3	NP_858057.1:p.?	NC_000017.10:g.65665619dup	(Likely) benign	1 lab	108d814c49
17:29552240 NF1 T>C	17	29552240	29552240	T	C	NF1	c.1973T>C	NM_001042492.2	NP_001035957.1:p.(Leu658Pro)	NC_000017.10:g.29552240T>C	VUS	1 lab	aa546360bf
12:6128247 VWF A>G	12	6128247	6128247	A	G	VWF	c.4337T>C	NM_000552.5	NP_000543.3:p.(Leu1446Pro)	NC_000012.11:g.6128247A>G	(Likely) pathogenic	1 lab	aa5aa289bb
11:6638574 TPP1 G>T	11	6638574	6638574	G	T	TPP1	c.466C>A	NM_000391.3	NP_000382.3:p.(Pro156Thr)	NC_000011.9:g.6638574G>T	VUS	1 lab	aa5aee3522
X:11139735 HCCS T>G	X	11139735	11139735	T	G	HCCS	c.612T>G	NM_005333.4	NP_005324.3:p.(Tyr204Ter)	NC_000023.10:g.11139735T>G	(Likely) pathogenic	1 lab	aa5b5f9d27
14:23884793 MYH7 CCCCAGCCTGTGCT>C	14	23884793	23884809	CCCCAGCCTGTGCT	C	MYH7	c.5157+32_5157+44del	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23884797_23884809del	(Likely) benign	1 lab	aa5c72f465
18:11689898 GNAL G>A	18	11689898	11689898	G	A	GNAL	c.336G>A	NM_182978.4	NP_892023.1:p.(Gln112=)	NC_000018.9:g.11689898G>A	(Likely) benign	1 lab	0b7af25136
17:7909855 GUCY2D C>G	17	7909855	7909855	C	G	GUCY2D	c.1201C>G	NM_000180.4	NP_000171.1:p.(Pro401Ala)	NC_000017.10:g.7909855C>G	VUS	1 lab	aa63819c15
2:73777400 MISSING A>G	2	73777400	73777400	A	G	MISSING				NC_000002.11:g.73777400A>G	(Likely) benign	1 lab	aa63e4420c
7:128484133 FLNC G>A	7	128484133	128484133	G	A	FLNC	c.3005G>A	NM_001458.4	NP_001449.3:p.(Arg1002Gln)	NC_000007.13:g.128484133G>A	(Likely) benign	1 lab	aa64267606
1:3334598 PRDM16 C>T	1	3334598	3334598	C	T	PRDM16	c.2861+37C>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3334598C>T	(Likely) benign	1 lab	aa6b3a404c
20:33585308 MYH7B G>A	20	33585308	33585308	G	A	MYH7B	c.3738G>A	NM_020884.4	NP_065935.3:p.(Ala1246=)	NC_000020.10:g.33585308G>A	(Likely) benign	1 lab	aa6b59c4df
11:123524481 SCN3B A>G	11	123524481	123524481	A	G	SCN3B	c.29T>C	NM_018400.3	NP_060870.1:p.(Leu10Pro)	NC_000011.9:g.123524481A>G	(Likely) benign	1 lab	aa6f628712
16:89575608 SPG7 T>A	16	89575608	89575608	T	A	SPG7	c.183+600T>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89575608T>A	(Likely) benign	1 lab	10e47688bc
19:3977291 EEF2 G>A	19	3977291	3977291	G	A	EEF2	c.2305C>T	NM_001961.4	NP_001952.1:p.(His769Tyr)	NC_000019.9:g.3977291G>A	(Likely) pathogenic	1 lab	aa7412ebc7
5:112173251 APC C>T	5	112173251	112173251	C	T	APC	c.1960C>T	NM_000038.6	NP_000029.2:p.(Gln654Ter)	NC_000005.9:g.112173251C>T	(Likely) pathogenic	1 lab	aa7a009b03
17:59821885 BRIP1 G>A	17	59821885	59821885	G	A	BRIP1	c.2165C>T	NM_032043.3	NP_114432.2:p.(Thr722Ile)	NC_000017.10:g.59821885G>A	VUS	1 lab	aa7a531743
11:121016574 TECTA GTCC>GTCC	11	121016574	121016577	GTCC	GTCC	TECTA				NC_000011.9:g.121016574_121016577=	(Likely) pathogenic	1 lab	aa7b198198
2:47639568 MSH2 G>T	2	47639568	47639568	G	T	MSH2	c.661G>T	NM_000251.3	NP_000242.1:p.(Gly221Ter)	NC_000002.11:g.47639568G>T	(Likely) pathogenic	1 lab	aa7d87acf7
15:43892842 STRC C>T	15	43892842	43892842	C	T	STRC	c.4883G>A	NM_153700.2	NP_714544.1:p.(Cys1628Tyr)	NC_000015.9:g.43892842C>T	VUS	1 lab	aa7dadfded
1:237550578 RYR2 C>T	1	237550578	237550578	C	T	RYR2	c.577-3C>T	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237550578C>T	(Likely) benign	1 lab	aa82d17be1
1:1956734 GABRD C>T	1	1956734	1956734	C	T	GABRD	c.182-39C>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1956734C>T	(Likely) benign	1 lab	b048368101
5:90098655 ADGRV1 AAATC>A	5	90098655	90098659	AAATC	A	ADGRV1	c.14618_14621del	NM_032119.4	NP_115495.3:p.(Lys4873MetfsTer25)	NC_000005.9:g.90098656_90098659del	(Likely) pathogenic	1 lab	aa859c59dc
X:119581881 LAMP2 C>G	X	119581881	119581881	C	G	LAMP2	c.557-1G>C	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119581881C>G	(Likely) pathogenic	1 lab	0b85f01df1
X:53566722 HUWE1 T>G	X	53566722	53566722	T	G	HUWE1	c.11528A>C	NM_031407.7	NP_113584.3:p.(Glu3843Ala)	NC_000023.10:g.53566722T>G	VUS	1 lab	1090373a1c
20:34302131 RBM39 G>A	20	34302131	34302131	G	A	RBM39	c.1072C>T	NM_184234.2	NP_909122.1:p.(Gln358Ter)	NC_000020.10:g.34302131G>A	VUS	1 lab	aa8fa8ea9f
21:36252865 RUNX1 C>T	21	36252865	36252865	C	T	RUNX1	c.497G>A	NM_001754.5	NP_001745.2:p.(Arg166Gln)	NC_000021.8:g.36252865C>T	(Likely) pathogenic	1 lab	aa90acb2bc
2:166245157 SCN2A T>G	2	166245157	166245157	T	G	SCN2A	c.4841T>G	NM_021007.2	NP_066287.2:p.(Leu1614Arg)	NC_000002.11:g.166245157T>G	(Likely) pathogenic	1 lab	aa9169f439
19:13007126 GCDH C>T	19	13007126	13007126	C	T	GCDH				NC_000019.9:g.13007126C>T	(Likely) pathogenic	1 lab	aa91fbf3f8
2:165948757 SCN3A T>C	2	165948757	165948757	T	C	SCN3A	c.4807+7A>G	NM_006922.3	NP_008853.3:p.?	NC_000002.11:g.165948757T>C	(Likely) benign	1 lab	aa940caae4
12:49578924 TUBA1A C>T	12	49578924	49578924	C	T	TUBA1A	c.1225G>A	NM_006009.4	NP_006000.2:p.(Val409Ile)	NC_000012.11:g.49578924C>T	(Likely) pathogenic	1 lab	aa97b84ede
1:12061859 MFN2 T>C	1	12061859	12061859	T	C	MFN2	c.1004T>C	NM_014874.4	NP_055689.1:p.(Met335Thr)	NC_000001.10:g.12061859T>C	(Likely) benign	1 lab	aa9b979faa
1:215848524 USH2A C>T	1	215848524	215848524	C	T	USH2A	c.12729G>A	NM_206933.2	NP_996816.2:p.(Trp4243Ter)	NC_000001.10:g.215848524C>T	(Likely) pathogenic	1 lab	aa9e3660af
2:179592551 TTN G>T	2	179592551	179592551	G	T	TTN	c.19754C>A	NM_001267550.2	NP_001254479.2:p.(Ala6585Asp)	NC_000002.11:g.179592551G>T	VUS	1 lab	aa9ee809da
5:176722362 NSD1 C>T	5	176722362	176722362	C	T	NSD1	c.7993C>T	NM_022455.4	NP_071900.2:p.(Leu2665Phe)	NC_000005.9:g.176722362C>T	VUS	1 lab	aa9f3626f2
5:140903815 DIAPH1 T>C	5	140903815	140903815	T	C	DIAPH1	c.3575-19A>G	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140903815T>C	(Likely) benign	1 lab	10929b207f
7:154596661 DPP6 C>T	7	154596661	154596661	C	T	DPP6	c.1534C>T	NM_130797.4	NP_570629.2:p.(Arg512Ter)	NC_000007.13:g.154596661C>T	VUS	1 lab	aaa24c08bf
2:179464486 TTN C>T	2	179464486	179464486	C	T	TTN	c.56142G>A	NM_001267550.2	NP_001254479.2:p.(Pro18714=)	NC_000002.11:g.179464486C>T	(Likely) benign	1 lab	aaa2bb8430
4:6290859 WFS1 G>A	4	6290859	6290859	G	A	WFS1	c.460+1G>A	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6290859G>A	(Likely) pathogenic	1 lab	aaa360fe74
2:179424813 TTN C>T	2	179424813	179424813	C	T	TTN	c.59226G>A	NM_133432.3	NP_597676.3:p.(Pro19742=)	NC_000002.11:g.179424813C>T	(Likely) benign	1 lab	1096557c5b
1:17350553 SDHB C>T	1	17350553	17350553	C	T	SDHB	c.557G>A	NM_003000.2	NP_002991.2:p.(Cys186Tyr)	NC_000001.10:g.17350553C>T	(Likely) pathogenic	1 lab	aaa519e22e
7:117279869 CFTR A>C	7	117279869	117279869	A	C	CFTR	c.3718-2623A>C	NM_000492.3	NP_000483.3:p.?	NC_000007.13:g.117279869A>C	(Likely) benign	1 lab	aaa5c8904d
2:240055931 HDAC4 T>C	2	240055931	240055931	T	C	HDAC4	c.1294+10A>G	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240055931T>C	(Likely) benign	1 lab	aaa627e006
21:35736411 KCNE2 G>A	21	35736411	35736411	G	A	KCNE2	c.-52G>A	NM_172201.1	NP_751951.1:p.?	NC_000021.8:g.35736411G>A	VUS	1 lab	aaa62b9b41
11:36596949 RAG1 C>T	11	36596949	36596949	C	T	RAG1	c.2095C>T	NM_000448.3	NP_000439.2:p.(Arg699Trp)	NC_000011.9:g.36596949C>T	(Likely) pathogenic	1 lab	0b882478c2
16:50257163 MISSING C>T	16	50257163	50257163	C	T	MISSING				NC_000016.9:g.50257163C>T	VUS	1 lab	aaa7aff706
1:228475557 OBSCN G>T	1	228475557	228475557	G	T	OBSCN	c.10994G>T	NM_001271223.2	NP_001258152.2:p.(Gly3665Val)	NC_000001.10:g.228475557G>T	(Likely) benign	1 lab	aaae2f6aff
11:108139355 ATM A>G	11	108139355	108139355	A	G	ATM	c.2838+19A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108139355A>G	(Likely) benign	1 lab	aab0e18ec1
10:73558886 CDH23 G>A	10	73558886	73558886	G	A	CDH23	c.7073G>A	NM_022124.5	NP_071407.4:p.(Arg2358Gln)	NC_000010.10:g.73558886G>A	(Likely) benign	1 lab	aab257625c
14:23874883 MYH6 C>T	14	23874883	23874883	C	T	MYH6	c.298G>A	NM_002471.4	NP_002462.2:p.(Ala100Thr)	NC_000014.8:g.23874883C>T	VUS	1 lab	0b8a28eb1a
16:56914355 SLC12A3 C>T	16	56914355	56914355	C	T	SLC12A3	c.1567+190C>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56914355C>T	(Likely) benign	1 lab	aab69ef9ea
11:76858871 MYO7A A>G	11	76858871	76858871	A	G	MYO7A	c.160A>G	NM_000260.4	NP_000251.3:p.(Thr54Ala)	NC_000011.9:g.76858871A>G	VUS	1 lab	aab81092c6
7:143091396 EPHA1 A>G	7	143091396	143091396	A	G	EPHA1	c.2393T>C	NM_005232.4	NP_005223.4:p.(Ile798Thr)	NC_000007.13:g.143091396A>G	VUS	1 lab	aab81f8095
10:89720996 PTEN C>T	10	89720996	89720996	C	T	PTEN	c.1026+121C>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720996C>T	(Likely) benign	1 lab	aaba7f1047
12:52080158 SCN8A T>C	12	52080158	52080158	T	C	SCN8A	c.402T>C	NM_001330260.2	NP_001317189.1:p.(Phe134=)	NC_000012.11:g.52080158T>C	(Likely) benign	1 lab	aabaec355d
7:76062902 ZP3 C>G	7	76062902	76062902	C	G	ZP3	c.651C>G	NM_001110354.2	NP_001103824.1:p.(Cys217Trp)	NC_000007.13:g.76062902C>G	VUS	1 lab	0b8b1eae75
2:211465321 CPS1 T>G	2	211465321	211465321	T	G	CPS1				NC_000002.11:g.211465321T>G	VUS	1 lab	aac93d210a
5:127713529 FBN2 C>T	5	127713529	127713529	C	T	FBN2	c.1765G>A	NM_001999.4	NP_001990.2:p.(Gly589Ser)	NC_000005.9:g.127713529C>T	VUS	1 lab	aaca96c165
7:50450292 IKZF1 A>G	7	50450292	50450292	A	G	IKZF1	c.476A>G	NM_006060.6	NP_006051.1:p.(Asn159Ser)	NC_000007.13:g.50450292A>G	(Likely) pathogenic	1 lab	aad27fc1e5
17:29509801 NF1 G>T	17	29509801	29509801	G	T	NF1	c.888+118G>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29509801G>T	(Likely) benign	1 lab	aad32713e4
7:107336429 SLC26A4 G>A	7	107336429	107336429	G	A	SLC26A4	c.1489G>A	NM_000441.1	NP_000432.1:p.(Gly497Ser)	NC_000007.13:g.107336429G>A	(Likely) pathogenic	1 lab	aad428ac8e
10:81052055 ZMIZ1 C>T	10	81052055	81052055	C	T	ZMIZ1	c.899C>T	NM_020338.3	NP_065071.1:p.(Thr300Met)	NC_000010.10:g.81052055C>T	(Likely) pathogenic	1 lab	aad669a6df
3:38768331 SCN10A G>A	3	38768331	38768331	G	A	SCN10A	c.2853C>T	NM_006514.3	NP_006505.3:p.(Leu951=)	NC_000003.11:g.38768331G>A	(Likely) benign	1 lab	aadb1c7b8c
19:11361650 DOCK6 A>G	19	11361650	11361650	A	G	DOCK6	c.620T>C	NM_020812.4	NP_065863.2:p.(Leu207Pro)	NC_000019.9:g.11361650A>G	VUS	1 lab	1a7ee32b44
X:53244976 KDM5C C>A	X	53244976	53244976	C	A	KDM5C	c.963+1G>T	NM_004187.3	NP_004178.2:p.?	NC_000023.10:g.53244976C>A	(Likely) pathogenic	1 lab	aadc50492d
1:155874193 RIT1 T>G	1	155874193	155874193	T	G	RIT1	c.389A>C	NM_001256821.1	NP_001243750.1:p.(Glu130Ala)	NC_000001.10:g.155874193T>G	VUS	1 lab	aae2874a2e
19:920706 KISS1R G>A	19	920706	920706	G	A	KISS1R	c.1155G>A	NM_032551.4	NP_115940.2:p.(Ala385=)	NC_000019.9:g.920706G>A	(Likely) benign	1 lab	aae2ffc6c6
20:44685826 SLC12A5 G>T	20	44685826	44685826	G	T	SLC12A5	c.3143G>T	NM_020708.5	NP_065759.1:p.(Arg1048Leu)	NC_000020.10:g.44685826G>T	VUS	1 lab	0b90982b65
2:166018850 SCN3A G>A	2	166018850	166018850	G	A	SCN3A	c.999C>T	NM_006922.4	NP_008853.3:p.(Asp333=)	NC_000002.11:g.166018850G>A	(Likely) benign	1 lab	aaf0909b83
9:136218915 SURF1 C>T	9	136218915	136218915	C	T	SURF1	c.833+1G>A	NM_003172.4	NP_003163.1:p.?	NC_000009.11:g.136218915C>T	(Likely) pathogenic	1 lab	aaf2964252
14:60976220 SIX6 G>A	14	60976220	60976220	G	A	SIX6	c.104G>A	NM_007374.2	NP_031400.2:p.(Trp35Ter)	NC_000014.8:g.60976220G>A	(Likely) pathogenic	1 lab	aaf618b5c3
18:47777258 CFAP53 T>G	18	47777258	47777258	T	G	CFAP53	c.866A>C	NM_145020.4	NP_659457.2:p.(Gln289Pro)	NC_000018.9:g.47777258T>G	(Likely) benign	1 lab	aaf9edc485
16:57998108 CNGB1 T>C	16	57998108	57998108	T	C	CNGB1	c.218-2A>G	NM_001297.5	NP_001288.3:p.?	NC_000016.9:g.57998108T>C	(Likely) pathogenic	1 lab	aafc27fa26
9:140611615 EHMT1 C>T	9	140611615	140611615	C	T	EHMT1	c.623C>T	NM_024757.4	NP_079033.4:p.(Pro208Leu)	NC_000009.11:g.140611615C>T	VUS	1 lab	aafe59f563
2:179442526 TTN T>C	2	179442526	179442526	T	C	TTN	c.68627A>G	NM_001267550.2	NP_001254479.2:p.(Tyr22876Cys)	NC_000002.11:g.179442526T>C	VUS	1 lab	0b9210a7bd
13:32907319 BRCA2 AC>A	13	32907319	32907320	AC	A	BRCA2	c.1705del	NM_000059.4	NP_000050.3:p.(Gln569ArgfsTer4)	NC_000013.10:g.32907320del	(Likely) pathogenic	1 lab	0b92b5c2f9
11:119216858 MFRP G>A	11	119216858	119216858	G	A	MFRP	c.169C>T	NM_031433.4	NP_113621.1:p.(Arg57Ter)	NC_000011.9:g.119216858G>A	(Likely) pathogenic	1 lab	ab050e006f
6:7542252 DSP G>C	6	7542252	7542252	G	C	DSP	c.104G>C	NM_004415.2	NP_004406.2:p.(Gly35Ala)	NC_000006.11:g.7542252G>C	(Likely) benign	1 lab	ab0559ea42
2:179438667 TTN G>T	2	179438667	179438667	G	T	TTN	c.72192C>A	NM_001267550.2	NP_001254479.2:p.(Ser24064Arg)	NC_000002.11:g.179438667G>T	VUS	1 lab	0b955263ab
9:75136789 TMC1 G>A	9	75136789	75136789	G	A	TMC1	c.-468G>A	NM_138691.2	NP_619636.2:p.?	NC_000009.11:g.75136789G>A	(Likely) benign	1 lab	ab0aa9c8ef
2:32477559 NLRC4 T>G	2	32477559	32477559	T	G	NLRC4	c.191A>C	NM_021209.4	NP_067032.3:p.(Glu64Ala)	NC_000002.11:g.32477559T>G	(Likely) benign	1 lab	109e10231b
2:47698094 MSH2 C>A	2	47698094	47698094	C	A	MSH2	c.1662-10C>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698094C>A	VUS	1 lab	b458e0a783
9:138646850 KCNT1 A>G	9	138646850	138646850	A	G	KCNT1	c.492-117A>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138646850A>G	(Likely) benign	1 lab	10a1119f75
5:132227891 AFF4 C>T	5	132227891	132227891	C	T	AFF4	c.2602G>A	NM_014423.4	NP_055238.1:p.(Glu868Lys)	NC_000005.9:g.132227891C>T	VUS	1 lab	0b97e476d2
10:79764602 POLR3A G>A	10	79764602	79764602	G	A	POLR3A	c.2119C>T	NM_007055.3	NP_008986.2:p.(Gln707Ter)	NC_000010.10:g.79764602G>A	(Likely) pathogenic	1 lab	ab13a86da4
20:42744906 JPH2 G>A	20	42744906	42744906	G	A	JPH2	c.1409C>T	NM_020433.4	NP_065166.2:p.(Pro470Leu)	NC_000020.10:g.42744906G>A	VUS	1 lab	ab14dff935
3:47030185 NBEAL2 G>A	3	47030185	47030185	G	A	NBEAL2	c.78G>A	NM_015175.2	NP_055990.1:p.(Trp26Ter)	NC_000003.11:g.47030185G>A	(Likely) pathogenic	1 lab	ab1584adc0
12:80855786 MISSING T>C	12	80855786	80855786	T	C	MISSING				NC_000012.11:g.80855786T>C	VUS	1 lab	ab1982c436
1:158623229 SPTA1 A>G	1	158623229	158623229	A	G	SPTA1	c.3037-14T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158623229A>G	(Likely) benign	1 lab	10a1527f3c
11:108165820 ATM C>T	11	108165820	108165820	C	T	ATM	c.4909+34C>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108165820C>T	(Likely) benign	1 lab	ab21d889b4
13:23912715 SACS A>C	13	23912715	23912715	A	C	SACS	c.5300T>G	NM_014363.6	NP_055178.3:p.(Phe1767Cys)	NC_000013.10:g.23912715A>C	VUS	1 lab	0ba86fdc24
11:111965555 SDHD A>G	11	111965555	111965555	A	G	SDHD	c.341A>G	NM_003002.4	NP_002993.1:p.(Tyr114Cys)	NC_000011.9:g.111965555A>G	(Likely) pathogenic	1 lab	ab2c93b3f2
5:68524024 KGD4 C>T	5	68524024	68524024	C	T	KGD4	c.107-3C>T	NM_033281.6	NP_150597.1:p.?	NC_000005.9:g.68524024C>T	(Likely) benign	1 lab	0ba9f95eba
19:10886512 DNM2 T>C	19	10886512	10886512	T	C	DNM2	c.519T>C	NM_001005360.2	NP_001005360.1:p.(Ala173=)	NC_000019.9:g.10886512T>C	(Likely) benign	1 lab	ab3a5e2bb1
1:94493895 ABCA4 G>A	1	94493895	94493895	G	A	ABCA4				NC_000001.10:g.94493895G>A	(Likely) pathogenic	1 lab	b47d4e68af
11:108163484 ATM A>T	11	108163484	108163484	A	T	ATM	c.4575A>T	NM_000051.4	NP_000042.3:p.(Ile1525=)	NC_000011.9:g.108163484A>T	(Likely) benign	1 lab	ab3d4f9408
15:65370375 KBTBD13 C>A	15	65370375	65370375	C	A	KBTBD13	c.1222C>A	NM_001101362.2	NP_001094832.1:p.(Arg408Ser)	NC_000015.9:g.65370375C>A	VUS	1 lab	ab4271f4a8
4:186990408 TLR3 T>C	4	186990408	186990408	T	C	TLR3	c.-8+6T>C	NM_003265.2	NP_003256.1:p.?	NC_000004.11:g.186990408T>C	(Likely) benign	1 lab	10a5a9e923
5:142783015 NR3C1 G>GC	5	142783015	142783016	G	GC	NR3C1	c.-254_-253insG	NM_000176.2	NP_000167.1:p.?	NC_000005.9:g.142783015_142783016insC	(Likely) benign	1 lab	ab475f443c
17:41226641 BRCA1 G>A	17	41226641	41226641	G	A	BRCA1	c.4485-103C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226641G>A	(Likely) benign	1 lab	ab4c584765
10:99216648 ZDHHC16 A>G	10	99216648	99216648	A	G	ZDHHC16	c.1134A>G	NM_032327.2	NP_115703.2:p.(Ter378TrpextTer81)	NC_000010.10:g.99216648A>G	VUS	1 lab	ab4c7e5d8e
5:112175595 APC GA>G	5	112175595	112175597	GA	G	APC	c.4306del	NM_000038.6	NP_000029.2:p.(Ser1436ValfsTer37)	NC_000005.9:g.112175597del	(Likely) pathogenic	1 lab	ab4d69a848
3:182789098 MCCC1 C>A	3	182789098	182789098	C	A	MCCC1	c.539G>T	NM_020166.4	NP_064551.3:p.(Gly180Val)	NC_000003.11:g.182789098C>A	(Likely) pathogenic	1 lab	ab50aceebc
13:32912090 BRCA2 TG>T	13	32912090	32912091	TG	T	BRCA2	c.3599del	NM_000059.4	NP_000050.3:p.(Cys1200LeufsTer9)	NC_000013.10:g.32912091del	(Likely) pathogenic	1 lab	0bb5865617
17:72744911 NHERF1 G>A	17	72744911	72744911	G	A	NHERF1	c.-75G>A	NM_004252.5	NP_004243.1:p.?	NC_000017.10:g.72744911G>A	(Likely) benign	1 lab	10a7c42388
5:135392455 TGFBI T>C	5	135392455	135392455	T	C	TGFBI				NC_000005.9:g.135392455T>C	VUS	1 lab	ab550cbe18
4:187112832 CYP4V2 C>T	4	187112832	187112832	C	T	CYP4V2	c.-146C>T	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187112832C>T	(Likely) benign	1 lab	ab55a30bd6
6:53989658 MLIP G>T	6	53989658	53989658	G	T	MLIP	c.640G>T	NM_001281747.2	NP_001268676.1:p.(Gly214Trp)	NC_000006.11:g.53989658G>T	VUS	1 lab	ab594f3379
12:51404467 SLC11A2 C>T	12	51404467	51404467	C	T	SLC11A2	c.34+11G>A	NM_000617.2	NP_000608.1:p.?	NC_000012.11:g.51404467C>T	(Likely) benign	1 lab	ab5bcc456c
2:228134661 COL4A3 G>C	2	228134661	228134661	G	C	COL4A3	c.1540G>C	NM_000091.4	NP_000082.2:p.(Gly514Arg)	NC_000002.11:g.228134661G>C	(Likely) pathogenic	1 lab	ab808c31c3
15:48744845 FBN1 C>T	15	48744845	48744845	C	T	FBN1	c.5459G>A	NM_000138.5	NP_000129.3:p.(Arg1820His)	NC_000015.9:g.48744845C>T	VUS	1 lab	ab5cf0ff4f
20:33575667 MYH7B C>T	20	33575667	33575667	C	T	MYH7B	c.1366C>T	NM_020884.7	NP_065935.4:p.(Arg456Trp)	NC_000020.10:g.33575667C>T	VUS	1 lab	ab63cfa6e3
3:123441090 MYLK G>A	3	123441090	123441090	G	A	MYLK	c.1689C>T	NM_053025.3	NP_444253.3:p.(Ala563=)	NC_000003.11:g.123441090G>A	(Likely) benign	1 lab	ab69da26fe
1:153790501 GATAD2B C>T	1	153790501	153790501	C	T	GATAD2B	c.729+15G>A	NM_020699.2	NP_065750.1:p.?	NC_000001.10:g.153790501C>T	(Likely) benign	1 lab	ab6b5a8beb
1:155282139 FDPS G>A	1	155282139	155282139	G	A	FDPS	c.235G>A	NM_001135822.2	NP_001129294.1:p.(Ala79Thr)	NC_000001.10:g.155282139G>A	VUS	1 lab	0bb6244731
3:18457604 SATB1 C>T	3	18457604	18457604	C	T	SATB1	c.410G>A	NM_001195470.2	NP_001182399.1:p.(Trp137Ter)	NC_000003.11:g.18457604C>T	(Likely) pathogenic	1 lab	ab751a95a9
21:44839812 SIK1 C>T	21	44839812	44839812	C	T	SIK1	c.1046G>A	NM_173354.4	NP_775490.2:p.(Arg349Gln)	NC_000021.8:g.44839812C>T	(Likely) benign	1 lab	ab77690257
4:126370396 FAT4 C>T	4	126370396	126370396	C	T	FAT4	c.8231C>T	NM_001291303.3	NP_001278232.1:p.(Thr2744Ile)	NC_000004.11:g.126370396C>T	VUS	1 lab	ab79341217
1:161298228 SDHC G>A	1	161298228	161298228	G	A	SDHC	c.120G>A	NM_003001.3	NP_002992.1:p.(Arg40=)	NC_000001.10:g.161298228G>A	(Likely) benign	1 lab	ab7cc70aa0
1:154557419 ADAR AG>A	1	154557419	154557421	AG	A	ADAR	c.3543del	NM_001111.5	NP_001102.3:p.(Tyr1182MetfsTer22)	NC_000001.10:g.154557421del	VUS	1 lab	ab7e476228
1:155264424 PKLR G>C	1	155264424	155264424	G	C	PKLR	c.814C>G	NM_000298.6	NP_000289.1:p.(Leu272Val)	NC_000001.10:g.155264424G>C	(Likely) benign	1 lab	10acabf07b
14:23858276 MYH6 G>A	14	23858276	23858276	G	A	MYH6	c.3979-12C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858276G>A	(Likely) benign	1 lab	ab8f4dc7ee
11:5717746 TRIM22 A>C	11	5717746	5717746	A	C	TRIM22	c.284A>C	NM_006074.5	NP_006065.2:p.(Asp95Ala)	NC_000011.9:g.5717746A>C	(Likely) benign	1 lab	10acd69951
9:137704480 COL5A1 A>G	9	137704480	137704480	A	G	COL5A1	c.3774A>G	NM_000093.4	NP_000084.3:p.(Gly1258=)	NC_000009.11:g.137704480A>G	(Likely) benign	1 lab	10ada15dc2
2:167330775 SCN7A T>C	2	167330775	167330775	T	C	SCN7A	c.314A>G	NM_002976.4	NP_002967.2:p.(Asn105Ser)	NC_000002.11:g.167330775T>C	(Likely) benign	1 lab	ab94318e1e
20:33065565 ITCH AT>A	20	33065565	33065574	AT	A	ITCH	c.1570-3del	NM_031483.7	NP_113671.3:p.?	NC_000020.10:g.33065574del	(Likely) benign	1 lab	10adce44ff
1:103496754 COL11A1 T>C	1	103496754	103496754	T	C	COL11A1	c.698A>G	NM_001854.3	NP_001845.3:p.(Tyr233Cys)	NC_000001.10:g.103496754T>C	(Likely) benign	1 lab	ab9a2e251e
6:43020344 CUL7 C>T	6	43020344	43020344	C	T	CUL7	c.339G>A	NM_001168370.1	NP_001161842.1:p.(Lys113=)	NC_000006.11:g.43020344C>T	(Likely) benign	1 lab	ab9c7dc24d
3:52436835 BAP1 G>A	3	52436835	52436835	G	A	BAP1	c.1943C>T	NM_004656.4	NP_004647.1:p.(Ala648Val)	NC_000003.11:g.52436835G>A	(Likely) benign	1 lab	ab9d7a693b
13:113773308 F7 GC>G	13	113773308	113773312	GC	G	F7	c.1391del	NM_000131.4	NP_000122.1:p.(Pro464HisfsTer32)	NC_000013.10:g.113773312del	(Likely) pathogenic	1 lab	aba1bf2fad
3:38913694 SCN11A T>C	3	38913694	38913694	T	C	SCN11A	c.3485A>G	NM_014139.2	NP_054858.2:p.(Glu1162Gly)	NC_000003.11:g.38913694T>C	VUS	1 lab	aba3c175b0
X:138633280 F9 A>G	X	138633280	138633280	A	G	F9	c.580A>G	NM_000133.3	NP_000124.1:p.(Thr194Ala)	NC_000023.10:g.138633280A>G	(Likely) benign	1 lab	aba47fe4f9
2:183821273 NCKAP1 AT>A	2	183821273	183821276	AT	A	NCKAP1	c.2069del	NM_013436.5	NP_038464.1:p.(Asn690IlefsTer19)	NC_000002.11:g.183821276del	(Likely) pathogenic	1 lab	aba7f15e8b
21:19756040 TMPRSS15 C>G	21	19756040	19756040	C	G	TMPRSS15	c.400G>C	NM_002772.3	NP_002763.3:p.(Glu134Gln)	NC_000021.8:g.19756040C>G	(Likely) benign	1 lab	0bc54a87a9
2:39278352 SOS1 G>T	2	39278352	39278352	G	T	SOS1				NC_000002.11:g.39278352G>T	(Likely) pathogenic	1 lab	aba90d1128
10:43609949 RET G>C	10	43609949	43609949	G	C	RET	c.1901G>C	NM_020975.4	NP_066124.1:p.(Cys634Ser)	NC_000010.10:g.43609949G>C	(Likely) pathogenic	1 lab	10b626b5f2
6:32823983 PSMB9 G>A	6	32823983	32823983	G	A	PSMB9	c.128+1G>A	NM_002800.5	NP_002791.1:p.?	NC_000006.11:g.32823983G>A	VUS	1 lab	0d2f65fd46
15:44952756 SPG11 CG>C	15	44952756	44952757	CG	C	SPG11	c.315del	NM_025137.4	NP_079413.3:p.(Ala106LeufsTer15)	NC_000015.9:g.44952757del	(Likely) pathogenic	1 lab	10b7a45931
11:76871215 MYO7A C>T	11	76871215	76871215	C	T	MYO7A	c.1087C>T	NM_000260.3	NP_000251.3:p.(Pro363Ser)	NC_000011.9:g.76871215C>T	VUS	1 lab	abb4015089
10:89624032 PTEN G>A	10	89624032	89624032	G	A	PTEN	c.-195G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624032G>A	(Likely) benign	1 lab	abb41eb495
22:37524843 IL2RB C>T	22	37524843	37524843	C	T	IL2RB	c.949G>A	NM_000878.5	NP_000869.1:p.(Gly317Ser)	NC_000022.10:g.37524843C>T	(Likely) benign	1 lab	abb6803e9f
X:128645948 SMARCA1 T>C	X	128645948	128645948	T	C	SMARCA1	c.643A>G	NM_003069.5	NP_003060.2:p.(Thr215Ala)	NC_000023.10:g.128645948T>C	(Likely) benign	1 lab	abb7dacbcd
15:43907748 STRC T>C	15	43907748	43907748	T	C	STRC	c.2016A>G	NM_153700.2	NP_714544.1:p.(Leu672=)	NC_000015.9:g.43907748T>C	(Likely) benign	1 lab	abb881734d
1:116206600 VANGL1 C>T	1	116206600	116206600	C	T	VANGL1	c.523C>T	NM_138959.3	NP_620409.1:p.(Arg175Trp)	NC_000001.10:g.116206600C>T	(Likely) benign	1 lab	0bc910cf27
X:129149726 BCORL1 A>G	X	129149726	129149726	A	G	BCORL1	c.2978A>G	NM_001379451.1	NP_001366380.1:p.(His993Arg)	NC_000023.10:g.129149726A>G	VUS	1 lab	abbec0cc19
7:6045655 PMS2 G>C	7	6045655	6045655	G	C	PMS2	c.31C>G	NM_000535.5	NP_000526.1:p.(Pro11Ala)	NC_000007.13:g.6045655G>C	(Likely) benign	1 lab	abc124f25b
9:129455603 LMX1B G>A	9	129455603	129455603	G	A	LMX1B	c.741+1G>A	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129455603G>A	(Likely) pathogenic	1 lab	abc173aa49
6:129419358 LAMA2 C>G	6	129419358	129419358	C	G	LAMA2	c.437C>G	NM_000426.4	NP_000417.3:p.(Ser146Cys)	NC_000006.11:g.129419358C>G	VUS	1 lab	abc4bb9ca9
12:94772787 CEP83 A>G	12	94772787	94772787	A	G	CEP83	c.581T>C	NM_016122.2	NP_057206.2:p.(Leu194Pro)	NC_000012.11:g.94772787A>G	VUS	1 lab	abc4f9b208
X:41530732 CASK C>T	X	41530732	41530732	C	T	CASK	c.481G>A	NM_003688.3	NP_003679.2:p.(Gly161Arg)	NC_000023.10:g.41530732C>T	(Likely) pathogenic	1 lab	abc523765f
15:89860747 POLG A>C	15	89860747	89860747	A	C	POLG	c.3503T>G	NM_002693.3	NP_002684.1:p.(Leu1168Arg)	NC_000015.9:g.89860747A>C	(Likely) pathogenic	1 lab	abc7b14675
2:73718260 MISSING G>T	2	73718260	73718260	G	T	MISSING				NC_000002.11:g.73718260G>T	(Likely) benign	1 lab	abc825c2c8
12:2788864 CACNA1C C>G	12	2788864	2788864	C	G	CACNA1C	c.5490C>G	NM_199460.2	NP_955630.2:p.(Ala1830=)	NC_000012.11:g.2788864C>G	(Likely) benign	1 lab	abca217df1
19:47342805 AP2S1 A>G	19	47342805	47342805	A	G	AP2S1	c.184T>C	NM_004069.6	NP_004060.2:p.(Tyr62His)	NC_000019.9:g.47342805A>G	VUS	1 lab	abcd24f52f
X:153640093 TAFAZZIN G>C	X	153640093	153640093	G	C	TAFAZZIN	c.-88G>C	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153640093G>C	(Likely) benign	1 lab	abcdc247ac
5:147468614 SPINK5 A>G	5	147468614	147468614	A	G	SPINK5	c.475-443A>G	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147468614A>G	(Likely) benign	1 lab	0bd82dfacb
2:215645566 BARD1 A>T	2	215645566	215645566	A	T	BARD1	c.1032T>A	NM_000465.4	NP_000456.2:p.(Ser344Arg)	NC_000002.11:g.215645566A>T	VUS	1 lab	abd031fd05
8:68346339 CPA6 T>C	8	68346339	68346339	T	C	CPA6	c.975A>G	NM_020361.5	NP_065094.3:p.(Ala325=)	NC_000008.10:g.68346339T>C	(Likely) benign	1 lab	10b7de4a1b
3:46899977 MYL3 G>A	3	46899977	46899977	G	A	MYL3	c.482-26C>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899977G>A	(Likely) benign	1 lab	abda498c75
12:133198534 P2RX2 C>A	12	133198534	133198534	C	A	P2RX2	c.1470C>A	NM_170683.3	NP_733783.1:p.(Asp490Glu)	NC_000012.11:g.133198534C>A	(Likely) benign	1 lab	abdae5593c
5:1414807 SLC6A3 G>A	5	1414807	1414807	G	A	SLC6A3	c.1155C>T	NM_001044.5	NP_001035.1:p.(Asp385=)	NC_000005.9:g.1414807G>A	(Likely) benign	1 lab	0bd8d9a4ff
2:170677646 METTL5 T>C	2	170677646	170677646	T	C	METTL5	c.362A>G	NM_014168.4	NP_054887.2:p.(Asp121Gly)	NC_000002.11:g.170677646T>C	VUS	1 lab	abe0e0e071
16:56906680 SLC12A3 C>G	16	56906680	56906680	C	G	SLC12A3	c.1077C>G	NM_000339.2	NP_000330.2:p.(Asn359Lys)	NC_000016.9:g.56906680C>G	(Likely) pathogenic	1 lab	abe790a819
17:7577112 TP53 C>G	17	7577112	7577112	C	G	TP53				NC_000017.10:g.7577112C>G	(Likely) pathogenic	1 lab	abe8ef295c
8:145066509 GRINA G>A	8	145066509	145066509	G	A	GRINA	c.790G>A	NM_000837.1	NP_000828.1:p.(Val264Ile)	NC_000008.10:g.145066509G>A	VUS	1 lab	abe942b335
2:26702412 OTOF G>A	2	26702412	26702412	G	A	OTOF	c.2022C>T	NM_194248.2	NP_919224.1:p.(Asp674=)	NC_000002.11:g.26702412G>A	(Likely) benign	1 lab	abeb7f5bfa
2:159533387 PKP4 G>A	2	159533387	159533387	G	A	PKP4	c.3256+8G>A	NM_003628.4	NP_003619.2:p.?	NC_000002.11:g.159533387G>A	(Likely) benign	1 lab	abefec5228
14:77893431 VIPAS39 A>G	14	77893431	77893431	A	G	VIPAS39	c.*528=	NM_022067.3	NP_071350.2:p.?	NC_000014.8:g.77893431A>G	(Likely) benign	1 lab	abf2a3dba2
3:46900969 MYL3 C>T	3	46900969	46900969	C	T	MYL3	c.477G>A	NM_000258.2	NP_000249.1:p.(Thr159=)	NC_000003.11:g.46900969C>T	(Likely) benign	1 lab	ac0062825e
18:42530074 SETBP1 G>A	18	42530074	42530074	G	A	SETBP1	c.769G>A	NM_015559.3	NP_056374.2:p.(Val257Met)	NC_000018.9:g.42530074G>A	(Likely) benign	1 lab	0bde7af1e5
3:37067254 MLH1 C>T	3	37067254	37067254	C	T	MLH1	c.1165C>T	NM_000249.4	NP_000240.1:p.(Arg389Trp)	NC_000003.11:g.37067254C>T	VUS	1 lab	0bdf74e669
22:30057302 NF2 C>T	22	30057302	30057302	C	T	NF2	c.784C>T	NM_000268.3	NP_000259.1:p.(Arg262Ter)	NC_000022.10:g.30057302C>T	(Likely) pathogenic	1 lab	ac076bcdc7
3:127323873 MCM2 C>T	3	127323873	127323873	C	T	MCM2	c.547C>T	NM_004526.3	NP_004517.2:p.(Arg183Cys)	NC_000003.11:g.127323873C>T	VUS	1 lab	ac08005fab
2:47705654 MSH2 G>T	2	47705654	47705654	G	T	MSH2	c.2454G>T	NM_000251.2	NP_000242.1:p.(Lys818Asn)	NC_000002.11:g.47705654G>T	VUS	1 lab	ac08c2b9ec
11:108175523 ATM G>A	11	108175523	108175523	G	A	ATM	c.5618G>A	NM_000051.3	NP_000042.3:p.(Cys1873Tyr)	NC_000011.9:g.108175523G>A	VUS	1 lab	ac0cb25d34
8:61728967 CHD7 G>C	8	61728967	61728967	G	C	CHD7				NC_000008.10:g.61728967G>C	(Likely) pathogenic	1 lab	ac0ef53baf
12:133146575 FBRSL1 G>A	12	133146575	133146575	G	A	FBRSL1	c.755G>A	NM_001142641.2	NP_001136113.1:p.(Arg252His)	NC_000012.11:g.133146575G>A	VUS	1 lab	0bdf7cb80d
1:112329661 KCND3 C>T	1	112329661	112329661	C	T	KCND3	c.1174G>A	NM_004980.5	NP_004971.2:p.(Val392Ile)	NC_000001.10:g.112329661C>T	(Likely) pathogenic	1 lab	ac1b3c11f1
1:241665849 FH C>A	1	241665849	241665849	C	A	FH	c.1130G>T	NM_000143.3	NP_000134.2:p.(Cys377Phe)	NC_000001.10:g.241665849C>A	(Likely) pathogenic	1 lab	ac1cb929e1
2:179499266 TTN G>A	2	179499266	179499266	G	A	TTN	c.42242C>T	NM_001267550.2	NP_001254479.2:p.(Ala14081Val)	NC_000002.11:g.179499266G>A	VUS	1 lab	ac1d210c41
6:66205269 EYS A>G	6	66205269	66205269	A	G	EYS				NC_000006.11:g.66205269A>G	VUS	1 lab	ac1f4a1797
X:32834630 DMD CTGG>C	X	32834630	32834638	CTGG	C	DMD	c.482_484del	NM_004006.2	NP_003997.1:p.(Thr161del)	NC_000023.10:g.32834636_32834638del	VUS	1 lab	ac20abdd8c
14:20944590 PNP C>T	14	20944590	20944590	C	T	PNP	c.700C>T	NM_000270.4	NP_000261.2:p.(Arg234Ter)	NC_000014.8:g.20944590C>T	(Likely) pathogenic	1 lab	ac236e5370
14:102494097 DYNC1H1 G>A	14	102494097	102494097	G	A	DYNC1H1	c.9190G>A	NM_001376.4	NP_001367.2:p.(Val3064Ile)	NC_000014.8:g.102494097G>A	VUS	1 lab	ac27d1b77a
17:59926504 BRIP1 C>A	17	59926504	59926504	C	A	BRIP1	c.493G>T	NM_032043.2	NP_114432.2:p.(Glu165Ter)	NC_000017.10:g.59926504C>A	(Likely) pathogenic	1 lab	ac2b79602d
X:32536126 DMD T>C	X	32536126	32536126	T	C	DMD	c.2291A>G	NM_004006.3	NP_003997.2:p.(Asn764Ser)	NC_000023.10:g.32536126T>C	(Likely) benign	1 lab	0bea09de00
10:102748276 TWNK C>T	10	102748276	102748276	C	T	TWNK	c.309C>T	NM_021830.5	NP_068602.2:p.(Phe103=)	NC_000010.10:g.102748276C>T	(Likely) benign	1 lab	0bf2000fc3
17:18055493 MYO15A C>G	17	18055493	18055493	C	G	MYO15A	c.7961C>G	NM_016239.3	NP_057323.3:p.(Thr2654Ser)	NC_000017.10:g.18055493C>G	VUS	1 lab	ac385cbab7
X:20195116 RPS6KA3 A>C	X	20195116	20195116	A	C	RPS6KA3				NC_000023.10:g.20195116A>C	(Likely) pathogenic	1 lab	ba56a05ec7
18:29175234 TTR T>A	18	29175234	29175234	T	A	TTR	c.336+16T>A	NM_000371.3	NP_000362.1:p.?	NC_000018.9:g.29175234T>A	(Likely) benign	1 lab	ac42e21270
12:80760384 OTOGL C>T	12	80760384	80760384	C	T	OTOGL	c.6271C>T	NM_173591.3	NP_775862.3:p.(Gln2091Ter)	NC_000012.11:g.80760384C>T	(Likely) pathogenic	1 lab	ac44c1de19
12:102151344 GNPTAB A>C	12	102151344	102151344	A	C	GNPTAB	c.3335+6T>G	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102151344A>C	(Likely) pathogenic	1 lab	ac47b532a8
10:104596833 CYP17A1 G>A	10	104596833	104596833	G	A	CYP17A1	c.286C>T	NM_000102.3	NP_000093.1:p.(Arg96Trp)	NC_000010.10:g.104596833G>A	(Likely) pathogenic	1 lab	ac4c2583fa
2:165984424 SCN3A A>G	2	165984424	165984424	A	G	SCN3A	c.3110T>C	NM_006922.3	NP_008853.3:p.(Ile1037Thr)	NC_000002.11:g.165984424A>G	(Likely) benign	1 lab	ac4f8be4fe
12:6103090 VWF G>A	12	6103090	6103090	G	A	VWF	c.6536C>T	NM_000552.3	NP_000543.2:p.(Ser2179Phe)	NC_000012.11:g.6103090G>A	(Likely) pathogenic	1 lab	ac50c4e05c
6:32006909 CYP21A2 GGAGACTAC>G	6	32006909	32006917	GGAGACTAC	G	CYP21A2				NC_000006.11:g.32006910_32006917del	(Likely) pathogenic	1 lab	af6b312340
15:40462262 BUB1B G>A	15	40462262	40462262	G	A	BUB1B	c.180-1G>A	NM_001211.5	NP_001202.4:p.?	NC_000015.9:g.40462262G>A	(Likely) pathogenic	1 lab	ac517dacb1
18:48591854 SMAD4 TAAGGTTCCTTC>T	18	48591854	48591868	TAAGGTTCCTTC	T	SMAD4	c.1021_1031del	NM_005359.6	NP_005350.1:p.(Val341LeufsTer7)	NC_000018.9:g.48591858_48591868del	(Likely) pathogenic	1 lab	0bf35f536d
14:23874858 MYH6 C>T	14	23874858	23874858	C	T	MYH6	c.323G>A	NM_002471.4	NP_002462.2:p.(Arg108His)	NC_000014.8:g.23874858C>T	VUS	1 lab	ac52d8922b
X:107863648 COL4A5 G>T	X	107863648	107863648	G	T	COL4A5	c.2669G>T	NM_033380.2	NP_203699.1:p.(Gly890Val)	NC_000023.10:g.107863648G>T	(Likely) pathogenic	1 lab	ac5368f1d0
10:75848943 VCL G>GT	10	75848943	75848947	G	GT	VCL	c.1023-7dup	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75848947dup	(Likely) benign	1 lab	ac554b40b4
2:186658455 FSIP2 T>A	2	186658455	186658455	T	A	FSIP2	c.6592T>A	NM_173651.4	NP_775922.3:p.(Cys2198Ser)	NC_000002.11:g.186658455T>A	VUS	1 lab	ac57087dd2
3:37044489 MLH1 A>T	3	37044489	37044489	A	T	MLH1	c.307-1403A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37044489A>T	(Likely) benign	1 lab	ac573a000a
20:52774046 CYP24A1 G>A	20	52774046	52774046	G	A	CYP24A1	c.1315C>T	NM_000782.5	NP_000773.2:p.(Arg439Cys)	NC_000020.10:g.52774046G>A	(Likely) pathogenic	1 lab	ac57ad6e30
12:6120824 VWF A>C	12	6120824	6120824	A	C	VWF	c.5801T>G	NM_000552.3	NP_000543.2:p.(Val1934Gly)	NC_000012.11:g.6120824A>C	(Likely) pathogenic	1 lab	ac582bd4fc
12:116421325 MED13L G>A	12	116421325	116421325	G	A	MED13L	c.4552C>T	NM_015335.4	NP_056150.1:p.(Gln1518Ter)	NC_000012.11:g.116421325G>A	(Likely) pathogenic	1 lab	ac5919cc83
2:131355591 CFC1 C>T	2	131355591	131355591	C	T	CFC1	c.248-36G>A	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131355591C>T	(Likely) benign	1 lab	ac592d83e0
17:17782963 TOM1L2 G>GA	17	17782963	17782965	G	GA	TOM1L2				NC_000017.10:g.17782965dup	VUS	1 lab	afe26f2041
3:47165702 SETD2 T>C	3	47165702	47165702	T	C	SETD2	c.424A>G	NM_014159.7	NP_054878.5:p.(Ile142Val)	NC_000003.11:g.47165702T>C	VUS	1 lab	0bf4946e75
3:38783818 SCN10A G>T	3	38783818	38783818	G	T	SCN10A	c.2070C>A	NM_006514.3	NP_006505.3:p.(Ser690Arg)	NC_000003.11:g.38783818G>T	VUS	1 lab	ac5cd47dd6
1:216497634 USH2A T>C	1	216497634	216497634	T	C	USH2A	c.1204A>G	NM_206933.2	NP_996816.2:p.(Lys402Glu)	NC_000001.10:g.216497634T>C	VUS	1 lab	ac60c70d0d
7:107427322 SLC26A3 A>C	7	107427322	107427322	A	C	SLC26A3	c.921T>G	NM_000111.2	NP_000102.1:p.(Cys307Trp)	NC_000007.13:g.107427322A>C	(Likely) benign	1 lab	ac610afc83
22:36745161 MYH9 A>G	22	36745161	36745161	A	G	MYH9	c.121T>C	NM_002473.4	NP_002464.1:p.(Phe41Leu)	NC_000022.10:g.36745161A>G	(Likely) pathogenic	1 lab	ac63b26e85
16:56927323 SLC12A3 A>T	16	56927323	56927323	A	T	SLC12A3				NC_000016.9:g.56927323A>T	(Likely) benign	1 lab	bb9e1621b8
1:151377403 POGZ G>A	1	151377403	151377403	G	A	POGZ	c.4108C>T	NM_015100.3	NP_055915.2:p.(Arg1370Ter)	NC_000001.10:g.151377403G>A	(Likely) pathogenic	1 lab	ac63dc8e9d
18:12329664 AFG3L2 C>A	18	12329664	12329664	C	A	AFG3L2	c.2294G>T	NM_006796.2	NP_006787.2:p.(Ser765Ile)	NC_000018.9:g.12329664C>A	VUS	1 lab	ac6655e5e6
1:197404310 CRB1 AT>A	1	197404310	197404311	AT	A	CRB1	c.3318del	NM_201253.3	NP_957705.1:p.(Leu1107SerfsTer34)	NC_000001.10:g.197404311del	(Likely) pathogenic	1 lab	ac687f307b
2:32352066 SPAST C>A	2	32352066	32352066	C	A	SPAST	c.1148C>A	NM_014946.3	NP_055761.2:p.(Pro383Gln)	NC_000002.11:g.32352066C>A	(Likely) pathogenic	1 lab	ac6f3c3328
4:55594042 KIT G>A	4	55594042	55594042	G	A	KIT	c.1828G>A	NM_000222.2	NP_000213.1:p.(Gly610Ser)	NC_000004.11:g.55594042G>A	VUS	1 lab	ac7279b8ad
3:49168248 LAMB2 A>G	3	49168248	49168248	A	G	LAMB2	c.961T>C	NM_002292.3	NP_002283.3:p.(Cys321Arg)	NC_000003.11:g.49168248A>G	(Likely) pathogenic	1 lab	ac729520e5
X:38150201 RPGR T>C	X	38150201	38150201	T	C	RPGR	c.1572+11A>G	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38150201T>C	(Likely) benign	1 lab	ac758f7667
1:201035049 CACNA1S C>A	1	201035049	201035049	C	A	CACNA1S	c.2770G>T	NM_000069.2	NP_000060.2:p.(Ala924Ser)	NC_000001.10:g.201035049C>A	VUS	1 lab	ac798cd30c
19:50912413 POLD1 G>T	19	50912413	50912413	G	T	POLD1	c.1927G>T	NM_002691.3	NP_002682.2:p.(Gly643Trp)	NC_000019.9:g.50912413G>T	VUS	1 lab	ac82a5b26d
1:110709719 SLC6A17 T>C	1	110709719	110709719	T	C	SLC6A17	c.168T>C	NM_001010898.2	NP_001010898.1:p.(Asp56=)	NC_000001.10:g.110709719T>C	(Likely) benign	1 lab	ac854e2f7c
13:32928989 BRCA2 C>A	13	32928989	32928989	C	A	BRCA2	c.7008-9C>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32928989C>A	VUS	1 lab	ac87910a4b
17:41203135 BRCA1 C>G	17	41203135	41203135	C	G	BRCA1	c.5278-1G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41203135C>G	(Likely) pathogenic	1 lab	ac888d8526
8:141549529 AGO2 T>G	8	141549529	141549529	T	G	AGO2	c.2059A>C	NM_012154.5	NP_036286.2:p.(Ile687Leu)	NC_000008.10:g.141549529T>G	VUS	1 lab	0bfa7d002f
11:118133308 MPZL2 C>A	11	118133308	118133308	C	A	MPZL2	c.281G>T	NM_005797.4	NP_005788.1:p.(Arg94Leu)	NC_000011.9:g.118133308C>A	VUS	1 lab	ac90f2349d
1:62713353 KANK4 A>AGAG	1	62713353	62713356	A	AGAG	KANK4	c.2683-12_2683-10dup	NM_181712.5	NP_859063.3:p.?	NC_000001.10:g.62713354_62713356dup	(Likely) benign	1 lab	10c53f4c03
9:75435960 TMC1 G>A	9	75435960	75435960	G	A	TMC1	c.1966G>A	NM_138691.2	NP_619636.2:p.(Val656Met)	NC_000009.11:g.75435960G>A	VUS	1 lab	ac93ef00aa
8:100587947 VPS13B C>T	8	100587947	100587947	C	T	VPS13B				NC_000008.10:g.100587947C>T	(Likely) pathogenic	1 lab	ac942dd296
17:7983969 ALOX12B G>C	17	7983969	7983969	G	C	ALOX12B	c.650+7C>G	NM_001139.2	NP_001130.1:p.?	NC_000017.10:g.7983969G>C	(Likely) benign	1 lab	ac94add8be
X:10535136 MID1 G>A	X	10535136	10535136	G	A	MID1	c.452C>T	NM_000381.4	NP_000372.1:p.(Pro151Leu)	NC_000023.10:g.10535136G>A	(Likely) pathogenic	1 lab	ac97b9c7d4
7:154143424 DPP6 C>T	7	154143424	154143424	C	T	DPP6	c.358+11C>T	NM_130797.4	NP_570629.2:p.?	NC_000007.13:g.154143424C>T	(Likely) benign	1 lab	10d2eebed1
7:6026709 PMS2 G>A	7	6026709	6026709	G	A	PMS2	c.1687C>T	NM_000535.5	NP_000526.1:p.(Arg563Ter)	NC_000007.13:g.6026709G>A	(Likely) pathogenic	1 lab	ac9951b801
16:89346774 ANKRD11 G>T	16	89346774	89346774	G	T	ANKRD11	c.6176C>A	NM_001256183.1	NP_001243112.1:p.(Pro2059His)	NC_000016.9:g.89346774G>T	(Likely) benign	1 lab	ac9bf93be9
16:9015046 USP7 C>T	16	9015046	9015046	C	T	USP7	c.490G>A	NM_003470.2	NP_003461.2:p.(Asp164Asn)	NC_000016.9:g.9015046C>T	VUS	1 lab	ac9d87d69a
17:41244094 BRCA1 C>CATCAG	17	41244094	41244099	C	CATCAG	BRCA1	c.3449_3453dup	NM_007294.4	NP_009225.1:p.(Asp1152LeufsTer5)	NC_000017.10:g.41244095_41244099dup	(Likely) pathogenic	1 lab	aca320c974
7:104722195 KMT2E C>T	7	104722195	104722195	C	T	KMT2E	c.1309C>T	NM_182931.3	NP_891847.1:p.(Pro437Ser)	NC_000007.13:g.104722195C>T	VUS	1 lab	0bfeb74860
5:131054750 FNIP1 G>A	5	131054750	131054750	G	A	FNIP1	c.459C>T	NM_133372.3	NP_588613.3:p.(Ser153=)	NC_000005.9:g.131054750G>A	(Likely) benign	1 lab	0bffd8e6ee
3:155551331 SLC33A1 G>A	3	155551331	155551331	G	A	SLC33A1	c.1192C>T	NM_004733.4	NP_004724.1:p.(Pro398Ser)	NC_000003.11:g.155551331G>A	VUS	1 lab	0c012b827b
17:80206789 CSNK1D T>G	17	80206789	80206789	T	G	CSNK1D	c.1159A>C	NM_001893.4	NP_001884.2:p.(Thr387Pro)	NC_000017.10:g.80206789T>G	VUS	1 lab	aca5f7ae63
2:167160781 SCN9A A>G	2	167160781	167160781	A	G	SCN9A	c.655T>C	NM_002977.3	NP_002968.1:p.(Leu219=)	NC_000002.11:g.167160781A>G	(Likely) benign	1 lab	aca6372684
15:89866000 POLG A>C	15	89866000	89866000	A	C	POLG				NC_000015.9:g.89866000A>C	(Likely) pathogenic	1 lab	aca727a990
18:19424115 MIB1 T>C	18	19424115	19424115	T	C	MIB1	c.2112T>C	NM_020774.3	NP_065825.1:p.(His704=)	NC_000018.9:g.19424115T>C	(Likely) benign	1 lab	aca77d283d
19:38955363 RYR1 G>A	19	38955363	38955363	G	A	RYR1	c.2870+1G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38955363G>A	(Likely) pathogenic	1 lab	aca796b2aa
3:37081785 MLH1 G>C	3	37081785	37081785	G	C	MLH1	c.1667G>C	NM_000249.3	NP_000240.1:p.(Ser556Thr)	NC_000003.11:g.37081785G>C	(Likely) pathogenic	1 lab	aca7b39192
X:119666270 CUL4B G>A	X	119666270	119666270	G	A	CUL4B	c.2493+7C>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119666270G>A	(Likely) benign	1 lab	10d7b8a3f7
X:152991517 ABCD1 G>A	X	152991517	152991517	G	A	ABCD1	c.796G>A	NM_000033.4	NP_000024.2:p.(Gly266Arg)	NC_000023.10:g.152991517G>A	(Likely) pathogenic	1 lab	aca84977f9
9:130425578 STXBP1 A>C	9	130425578	130425578	A	C	STXBP1				NC_000009.11:g.130425578A>C	VUS	1 lab	acaa4d96f7
2:179486271 TTN G>T	2	179486271	179486271	G	T	TTN	c.18460C>A	NM_133432.3	NP_597676.3:p.(Leu6154Ile)	NC_000002.11:g.179486271G>T	VUS	1 lab	10d81dfe24
19:18979924 GDF1 C>G	19	18979924	18979924	C	G	GDF1	c.601G>C	NM_001492.5	NP_001483.3:p.(Ala201Pro)	NC_000019.9:g.18979924C>G	(Likely) benign	1 lab	acad5d198d
14:105415380 AHNAK2 C>G	14	105415380	105415380	C	G	AHNAK2	c.6408G>C	NM_138420.4	NP_612429.2:p.(Gln2136His)	NC_000014.8:g.105415380C>G	(Likely) benign	1 lab	acaf89e3f4
1:157095310 MISSING TGCTGGTGAAAGGGCTCAG>T	1	157095310	157095330	TGCTGGTGAAAGGGCTCAG	T	MISSING				NC_000001.10:g.157095313_157095330del	VUS	1 lab	acb1a59b14
5:92921048 NR2F1 A>G	5	92921048	92921048	A	G	NR2F1	c.319A>G	NM_005654.6	NP_005645.1:p.(Lys107Glu)	NC_000005.9:g.92921048A>G	(Likely) pathogenic	1 lab	acb2219cc7
X:100653854 GLA CTTTATACT>C	X	100653854	100653865	CTTTATACT	C	GLA	c.712_719del	NM_000169.2	NP_000160.1:p.(Ser238GlufsTer9)	NC_000023.10:g.100653858_100653865del	(Likely) pathogenic	1 lab	acb27c2fef
6:32808763 PSMB8 C>T	6	32808763	32808763	C	T	PSMB8	c.804G>A	NM_148919.4	NP_683720.2:p.(Leu268=)	NC_000006.11:g.32808763C>T	(Likely) benign	1 lab	10dbd22cc7
9:3248102 RFX3 T>C	9	3248102	3248102	T	C	RFX3	c.1898A>G	NM_134428.2	NP_602304.1:p.(Tyr633Cys)	NC_000009.11:g.3248102T>C	VUS	1 lab	acb3c1f560
1:115251247 NRAS A>G	1	115251247	115251247	A	G	NRAS	c.479T>C	NM_002524.5	NP_002515.1:p.(Val160Ala)	NC_000001.10:g.115251247A>G	VUS	1 lab	acb5af5d68
13:113760126 F7 A>C	13	113760126	113760126	A	C	F7	c.-30A>C	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113760126A>C	(Likely) pathogenic	1 lab	acb79e0c1f
19:1401354 GAMT A>T	19	1401354	1401354	A	T	GAMT				NC_000019.9:g.1401354A>T	VUS	1 lab	acbea3f208
17:59761489 BRIP1 A>C	17	59761489	59761489	A	C	BRIP1	c.2918T>G	NM_032043.2	NP_114432.2:p.(Phe973Cys)	NC_000017.10:g.59761489A>C	(Likely) benign	1 lab	acbec4ab8c
1:94546048 ABCA4 T>C	1	94546048	94546048	T	C	ABCA4	c.1085A>G	NM_000350.2	NP_000341.2:p.(Tyr362Cys)	NC_000001.10:g.94546048T>C	VUS	1 lab	acc3a94fc9
12:8987285 A2ML1 G>A	12	8987285	8987285	G	A	A2ML1	c.483+7G>A	NM_144670.4	NP_653271.2:p.?	NC_000012.11:g.8987285G>A	(Likely) benign	1 lab	acc7ef9e5a
7:81641562 CACNA2D1 G>T	7	81641562	81641562	G	T	CACNA2D1	c.1273-3C>A	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81641562G>T	(Likely) benign	1 lab	acc7f11e7c
2:220285577 DES A>G	2	220285577	220285577	A	G	DES	c.925A>G	NM_001927.4	NP_001918.3:p.(Lys309Glu)	NC_000002.11:g.220285577A>G	VUS	1 lab	accdf97ac4
2:179597171 TTN T>A	2	179597171	179597171	T	A	TTN	c.16617A>T	NM_001267550.2	NP_001254479.2:p.(Val5539=)	NC_000002.11:g.179597171T>A	(Likely) benign	1 lab	accf347c3a
3:164727113 SI A>C	3	164727113	164727113	A	C	SI	c.4133T>G	NM_001041.4	NP_001032.2:p.(Ile1378Ser)	NC_000003.11:g.164727113A>C	VUS	1 lab	0c014eb9bc
8:118831973 EXT1 TGA>T	8	118831973	118831979	TGA	T	EXT1	c.1476_1477del	NM_000127.3	NP_000118.2:p.(Gln493ValfsTer27)	NC_000008.10:g.118831978_118831979del	(Likely) pathogenic	1 lab	acd12dc3d7
22:36155945 RBFOX2 C>T	22	36155945	36155945	C	T	RBFOX2	c.1099G>A	NM_001082578.4	NP_001076047.2:p.(Ala367Thr)	NC_000022.10:g.36155945C>T	VUS	1 lab	0c0c66b230
12:65639939 LEMD3 CA>C	12	65639939	65639940	CA	C	LEMD3	c.2573-2del	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65639940del	(Likely) pathogenic	1 lab	acd3a4d7c2
11:533535 HRAS C>G	11	533535	533535	C	G	HRAS	c.368G>C	NM_005343.4	NP_005334.1:p.(Arg123Pro)	NC_000011.9:g.533535C>G	VUS	1 lab	0c102c522b
2:179417691 TTN G>A	2	179417691	179417691	G	A	TTN	c.89936C>T	NM_001267550.2	NP_001254479.2:p.(Thr29979Ile)	NC_000002.11:g.179417691G>A	VUS	1 lab	acd510afba
7:33545179 BBS9 G>A	7	33545179	33545179	G	A	BBS9	c.2220G>A	NM_198428.3	NP_940820.1:p.(Leu740=)	NC_000007.13:g.33545179G>A	(Likely) benign	1 lab	10dd38129a
17:41223034 BRCA1 TCA>T	17	41223034	41223039	TCA	T	BRCA1	c.4895_4896del	NM_007294.4	NP_009225.1:p.(Val1632GlufsTer46)	NC_000017.10:g.41223038_41223039del	(Likely) pathogenic	1 lab	0c110d7b15
X:63412503 AMER1 G>A	X	63412503	63412503	G	A	AMER1	c.664C>T	NM_152424.3	NP_689637.3:p.(Gln222Ter)	NC_000023.10:g.63412503G>A	(Likely) pathogenic	1 lab	ace1f3f1a5
1:201047062 CACNA1S G>A	1	201047062	201047062	G	A	CACNA1S	c.1564C>T	NM_000069.2	NP_000060.2:p.(Leu522=)	NC_000001.10:g.201047062G>A	(Likely) benign	1 lab	ace289fd49
7:91706406 AKAP9 C>CT	7	91706406	91706409	C	CT	AKAP9	c.6765+88dup	NM_005751.5	NP_005742.4:p.?	NC_000007.13:g.91706409dup	(Likely) benign	1 lab	ace6fe4fcf
1:197059458 ASPM G>A	1	197059458	197059458	G	A	ASPM	c.9697C>T	NM_018136.4	NP_060606.3:p.(Arg3233Ter)	NC_000001.10:g.197059458G>A	(Likely) pathogenic	1 lab	ace8caa88e
3:10384618 ATP2B2 C>T	3	10384618	10384618	C	T	ATP2B2	c.2735G>A	NM_001001331.4	NP_001001331.1:p.(Trp912Ter)	NC_000003.11:g.10384618C>T	(Likely) pathogenic	1 lab	acec90d628
12:122837310 CLIP1 C>T	12	122837310	122837310	C	T	CLIP1	c.1331G>A	NM_001247997.1	NP_001234926.1:p.(Arg444Gln)	NC_000012.11:g.122837310C>T	VUS	1 lab	aceda8438d
17:3539835 CTNS T>C	17	3539835	3539835	T	C	CTNS	c.-520T>C	NM_004937.2	NP_004928.2:p.?	NC_000017.10:g.3539835T>C	(Likely) benign	1 lab	aceeccf8d5
3:38924806 SCN11A C>T	3	38924806	38924806	C	T	SCN11A	c.3137G>A	NM_001349253.2	NP_001336182.1:p.(Arg1046Gln)	NC_000003.11:g.38924806C>T	VUS	1 lab	acef472021
2:208994253 CRYGC TGTTGACCTTG>T	2	208994253	208994265	TGTTGACCTTG	T	CRYGC	c.154_163del	NM_020989.3	NP_066269.1:p.(Gln52AsnfsTer48)	NC_000002.11:g.208994256_208994265del	(Likely) pathogenic	1 lab	aceff9ea5c
5:176720956 NSD1 T>C	5	176720956	176720956	T	C	NSD1	c.6587T>C	NM_022455.4	NP_071900.2:p.(Leu2196Pro)	NC_000005.9:g.176720956T>C	(Likely) pathogenic	1 lab	acf3775ae8
17:7577568 TP53 C>T	17	7577568	7577568	C	T	TP53	c.713G>A	NM_000546.5	NP_000537.3:p.(Cys238Tyr)	NC_000017.10:g.7577568C>T	(Likely) pathogenic	1 lab	acf62a7621
5:140963094 DIAPH1 C>T	5	140963094	140963094	C	T	DIAPH1				NC_000005.9:g.140963094C>T	(Likely) benign	1 lab	acf67a2c68
X:107842013 COL4A5 G>T	X	107842013	107842013	G	T	COL4A5	c.1861G>T	NM_033380.2	NP_203699.1:p.(Gly621Cys)	NC_000023.10:g.107842013G>T	(Likely) pathogenic	1 lab	acf8e0e7e2
16:3299576 MEFV A>G	16	3299576	3299576	A	G	MEFV	c.1115T>C	NM_000243.2	NP_000234.1:p.(Leu372Pro)	NC_000016.9:g.3299576A>G	(Likely) pathogenic	1 lab	10e20d4d19
2:97405663 LMAN2L G>A	2	97405663	97405663	G	A	LMAN2L	c.115C>T	NM_001142292.2	NP_001135764.1:p.(Pro39Ser)	NC_000002.11:g.97405663G>A	VUS	1 lab	0c14e51f5d
9:129377761 LMX1B G>A	9	129377761	129377761	G	A	LMX1B	c.239G>A	NM_002316.4	NP_002307.2:p.(Cys80Tyr)	NC_000009.11:g.129377761G>A	VUS	1 lab	ad006c7107
9:140611436 EHMT1 T>C	9	140611436	140611436	T	C	EHMT1	c.444T>C	NM_024757.4	NP_079033.4:p.(Pro148=)	NC_000009.11:g.140611436T>C	(Likely) benign	1 lab	ad03f4fb13
3:38798178 SCN10A C>T	3	38798178	38798178	C	T	SCN10A	c.1277G>A	NM_006514.4	NP_006505.4:p.(Arg426Gln)	NC_000003.11:g.38798178C>T	(Likely) benign	1 lab	ad0446f8b2
1:179521731 NPHS2 T>C	1	179521731	179521731	T	C	NPHS2	c.873+7A>G	NM_014625.2	NP_055440.1:p.?	NC_000001.10:g.179521731T>C	(Likely) benign	1 lab	ad06ad090c
12:133250246 POLE T>C	12	133250246	133250246	T	C	POLE	c.1274A>G	NM_006231.3	NP_006222.2:p.(Lys425Arg)	NC_000012.11:g.133250246T>C	VUS	1 lab	10e4323987
10:73450336 CDH23 G>C	10	73450336	73450336	G	C	CDH23	c.2171G>C	NM_022124.5	NP_071407.4:p.(Arg724Pro)	NC_000010.10:g.73450336G>C	VUS	1 lab	ad10af039e
10:89727184 PTEN T>A	10	89727184	89727184	T	A	PTEN	c.*1955T>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89727184T>A	(Likely) benign	1 lab	ad17b68c48
2:179542940 TTN A>AG	2	179542940	179542941	A	AG	TTN	c.33911-6_33911-5insC	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179542940_179542941insG	(Likely) benign	1 lab	ad1debd367
13:32906471 BRCA2 T>C	13	32906471	32906471	T	C	BRCA2	c.856T>C	NM_000059.3	NP_000050.2:p.(Ser286Pro)	NC_000013.10:g.32906471T>C	(Likely) benign	1 lab	ad227981eb
10:123260408 FGFR2 G>A	10	123260408	123260408	G	A	FGFR2	c.1493C>T	NM_000141.4	NP_000132.3:p.(Ala498Val)	NC_000010.10:g.123260408G>A	VUS	1 lab	ad23a60135
6:76570745 MYO6 A>ATCCTAAAATGATTATTTCATTTTAG	6	76570745	76570746	A	ATCCTAAAATGATTATTTCATTTTAG	MYO6	c.1479_1480insTCCTAAAATGATTATTTCATTTTAG	NM_004999.4	NP_004990.3:p.(Glu494SerfsTer2)	NC_000006.11:g.76570745_76570746insTCCTAAAATGATTATTTCATTTTAG	(Likely) pathogenic	1 lab	ad27778612
20:42788741 JPH2 T>G	20	42788741	42788741	T	G	JPH2	c.686A>C	NM_020433.4	NP_065166.2:p.(Lys229Thr)	NC_000020.10:g.42788741T>G	VUS	1 lab	ad28b8dba1
13:113803676 F10 A>G	13	113803676	113803676	A	G	F10	c.1312A>G	NM_000504.4	NP_000495.1:p.(Ser438Gly)	NC_000013.10:g.113803676A>G	VUS	1 lab	ad2e2e8bae
3:129247590 RHO A>C	3	129247590	129247590	A	C	RHO	c.14A>C	NM_000539.3	NP_000530.1:p.(Glu5Ala)	NC_000003.11:g.129247590A>C	VUS	1 lab	ad3344f967
1:205180618 DSTYK G>T	1	205180618	205180618	G	T	DSTYK	c.46C>A	NM_015375.2	NP_056190.1:p.(Pro16Thr)	NC_000001.10:g.205180618G>T	(Likely) benign	1 lab	ad34642dd3
16:56901102 SLC12A3 C>T	16	56901102	56901102	C	T	SLC12A3	c.403C>T	NM_000339.3	NP_000330.3:p.(Arg135Cys)	NC_000016.9:g.56901102C>T	(Likely) pathogenic	1 lab	ad3f8f0f7e
5:176923436 PDLIM7 C>T	5	176923436	176923436	C	T	PDLIM7	c.78G>A	NM_005451.5	NP_005442.2:p.(Val26=)	NC_000005.9:g.176923436C>T	(Likely) benign	1 lab	10e5dd3be4
12:52093457 SCN8A G>A	12	52093457	52093457	G	A	SCN8A	c.810G>A	NM_014191.4	NP_055006.1:p.(Leu270=)	NC_000012.11:g.52093457G>A	(Likely) benign	1 lab	ad42bee576
9:139411873 NOTCH1 G>A	9	139411873	139411873	G	A	NOTCH1	c.1442-36C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139411873G>A	(Likely) benign	1 lab	ad441dbfb0
2:26725169 OTOF G>A	2	26725169	26725169	G	A	OTOF	c.709C>T	NM_194248.2	NP_919224.1:p.(Arg237Ter)	NC_000002.11:g.26725169G>A	(Likely) pathogenic	1 lab	ad468c77d6
2:179540418 TTN G>T	2	179540418	179540418	G	T	TTN	c.34517C>A	NM_001267550.2	NP_001254479.2:p.(Ala11506Glu)	NC_000002.11:g.179540418G>T	(Likely) benign	1 lab	ad49b6e2e7
X:32613861 DMD A>T	X	32613861	32613861	A	T	DMD	c.1602+13T>A	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32613861A>T	(Likely) benign	1 lab	10e8b7c80b
5:112170682 APC G>A	5	112170682	112170682	G	A	APC	c.1778G>A	NM_000038.6	NP_000029.2:p.(Trp593Ter)	NC_000005.9:g.112170682G>A	(Likely) pathogenic	1 lab	ad4c0730e2
X:103045453 PLP1 A>G	X	103045453	103045453	A	G	PLP1	c.763-2A>G	NM_000533.3	NP_000524.3:p.?	NC_000023.10:g.103045453A>G	(Likely) pathogenic	1 lab	ad4c08a555
17:76425221 DNAH17 G>A	17	76425221	76425221	G	A	DNAH17	c.12386C>T	NM_173628.3	NP_775899.3:p.(Pro4129Leu)	NC_000017.10:g.76425221G>A	VUS	1 lab	ad4dca13f0
2:145158777 ZEB2 C>T	2	145158777	145158777	C	T	ZEB2	c.905G>A	NM_014795.4	NP_055610.1:p.(Arg302Gln)	NC_000002.11:g.145158777C>T	VUS	1 lab	ad51f165ba
1:120506413 NOTCH2 A>C	1	120506413	120506413	A	C	NOTCH2	c.1699T>G	NM_024408.4	NP_077719.2:p.(Cys567Gly)	NC_000001.10:g.120506413A>C	VUS	1 lab	ad549461f1
3:120363266 HGD C>T	3	120363266	120363266	C	T	HGD	c.674G>A	NM_000187.3	NP_000178.2:p.(Arg225His)	NC_000003.11:g.120363266C>T	(Likely) pathogenic	1 lab	ad57671102
2:32362214 SPAST G>C	2	32362214	32362214	G	C	SPAST	c.1450G>C	NM_014946.3	NP_055761.2:p.(Gly484Arg)	NC_000002.11:g.32362214G>C	(Likely) pathogenic	1 lab	ad57ac0f3a
21:47421318 COL6A1 C>G	21	47421318	47421318	C	G	COL6A1	c.1956+18C>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47421318C>G	(Likely) benign	1 lab	ad5b34a950
10:102505815 PAX2 A>G	10	102505815	102505815	A	G	PAX2	c.-203A>G	NM_003988.3	NP_003979.2:p.?	NC_000010.10:g.102505815A>G	(Likely) benign	1 lab	ad5c3c4c22
12:80900397 MISSING C>G	12	80900397	80900397	C	G	MISSING				NC_000012.11:g.80900397C>G	(Likely) benign	1 lab	ad603812e5
11:22296297 ANO5 ATTTG>A	11	22296297	22296316	ATTTG	A	ANO5	c.2414+20_2414+23del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22296313_22296316del	(Likely) benign	1 lab	0c1cbb6d69
18:29102160 DSG2 T>G	18	29102160	29102160	T	G	DSG2	c.638T>G	NM_001943.4	NP_001934.2:p.(Leu213Arg)	NC_000018.9:g.29102160T>G	VUS	1 lab	ad624543d1
1:201009182 CACNA1S A>G	1	201009182	201009182	A	G	CACNA1S	c.5399T>C	NM_000069.2	NP_000060.2:p.(Leu1800Ser)	NC_000001.10:g.201009182A>G	(Likely) benign	1 lab	ad6313398d
6:133782260 EYA4 A>G	6	133782260	133782260	A	G	EYA4	c.379A>G	NM_004100.4	NP_004091.3:p.(Ser127Gly)	NC_000006.11:g.133782260A>G	VUS	1 lab	ad6651e80a
X:49075340 CACNA1F C>A	X	49075340	49075340	C	A	CACNA1F	c.2766+1G>T	NM_005183.2	NP_005174.2:p.?	NC_000023.10:g.49075340C>A	(Likely) pathogenic	1 lab	ad66d923d9
8:42711384 RNF170 T>C	8	42711384	42711384	T	C	RNF170	c.695A>G	NM_030954.3	NP_112216.3:p.(Asp232Gly)	NC_000008.10:g.42711384T>C	VUS	1 lab	ad675ffc7a
5:112175106 APC C>G	5	112175106	112175106	C	G	APC	c.3815C>G	NM_000038.6	NP_000029.2:p.(Ser1272Ter)	NC_000005.9:g.112175106C>G	(Likely) pathogenic	1 lab	ad6809e23b
3:11064130 SLC6A1 G>A	3	11064130	11064130	G	A	SLC6A1	c.690G>A	NM_003042.4	NP_003033.3:p.(Trp230Ter)	NC_000003.11:g.11064130G>A	(Likely) pathogenic	1 lab	ad68f9c23d
10:69902840 MYPN C>A	10	69902840	69902840	C	A	MYPN	c.1046C>A	NM_032578.3	NP_115967.2:p.(Thr349Lys)	NC_000010.10:g.69902840C>A	VUS	1 lab	ad69a61930
6:33400501 SYNGAP1 C>T	6	33400501	33400501	C	T	SYNGAP1				NC_000006.11:g.33400501C>T	(Likely) pathogenic	1 lab	ad6b38632a
11:64525843 PYGM G>A	11	64525843	64525843	G	A	PYGM	c.425-22C>T	NM_005609.4	NP_005600.1:p.?	NC_000011.9:g.64525843G>A	(Likely) benign	1 lab	ad6cdcbe8b
2:121684987 GLI2 C>T	2	121684987	121684987	C	T	GLI2	c.199C>T	NM_005270.4	NP_005261.2:p.(Arg67Ter)	NC_000002.11:g.121684987C>T	(Likely) pathogenic	1 lab	ad6ce508ad
10:69881797 MYPN A>C	10	69881797	69881797	A	C	MYPN	c.602A>C	NM_032578.3	NP_115967.2:p.(Asp201Ala)	NC_000010.10:g.69881797A>C	(Likely) benign	1 lab	ad6de428c0
3:43641990 ANO10 A>T	3	43641990	43641990	A	T	ANO10	c.223T>A	NM_018075.3	NP_060545.3:p.(Ser75Thr)	NC_000003.11:g.43641990A>T	VUS	1 lab	ad7274ae04
X:70617240 TAF1 C>T	X	70617240	70617240	C	T	TAF1	c.3604C>T	NM_001286074.1	NP_001273003.1:p.(Arg1202Cys)	NC_000023.10:g.70617240C>T	VUS	1 lab	ad76f98b59
15:83334219 AP3B2 C>T	15	83334219	83334219	C	T	AP3B2	c.1961G>A	NM_004644.5	NP_004635.2:p.(Arg654His)	NC_000015.9:g.83334219C>T	VUS	1 lab	0c1d935592
12:57577257 LRP1 G>A	12	57577257	57577257	G	A	LRP1	c.5758G>A	NM_002332.2	NP_002323.2:p.(Gly1920Arg)	NC_000012.11:g.57577257G>A	VUS	1 lab	ad7a77b21e
6:47522521 CD2AP T>A	6	47522521	47522521	T	A	CD2AP	c.541+19T>A	NM_012120.2	NP_036252.1:p.?	NC_000006.11:g.47522521T>A	(Likely) benign	1 lab	ad7c6ea7d7
2:168105464 XIRP2 C>T	2	168105464	168105464	C	T	XIRP2	c.7562C>T	NM_152381.5	NP_689594.4:p.(Ser2521Phe)	NC_000002.11:g.168105464C>T	VUS	1 lab	ad7ff5cfbc
11:2187270 TH G>T	11	2187270	2187270	G	T	TH	c.1159C>A	NM_199292.3	NP_954986.2:p.(Leu387Met)	NC_000011.9:g.2187270G>T	(Likely) pathogenic	1 lab	ad83059cdd
X:38158193 RPGR T>C	X	38158193	38158193	T	C	RPGR				NC_000023.10:g.38158193T>C	(Likely) benign	1 lab	ad861e61af
18:59768400 PIGN A>G	18	59768400	59768400	A	G	PIGN	c.1985T>C	NM_176787.5	NP_789744.1:p.(Leu662Pro)	NC_000018.9:g.59768400A>G	VUS	1 lab	ad8762c6cc
12:48379408 COL2A1 C>T	12	48379408	48379408	C	T	COL2A1	c.1681-38G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48379408C>T	(Likely) benign	1 lab	ad8b686306
22:50502447 MLC1 C>T	22	50502447	50502447	C	T	MLC1	c.1059+16G>A	NM_015166.4	NP_055981.1:p.?	NC_000022.10:g.50502447C>T	(Likely) benign	1 lab	0c24b60482
1:234745204 IRF2BP2 G>C	1	234745204	234745204	G	C	IRF2BP2	c.37C>G	NM_182972.2	NP_892017.2:p.(Arg13Gly)	NC_000001.10:g.234745204G>C	VUS	1 lab	ad9034198c
7:158536345 ESYT2 A>G	7	158536345	158536345	A	G	ESYT2	c.1750T>C	NM_020728.2	NP_065779.1:p.(Ser584Pro)	NC_000007.13:g.158536345A>G	(Likely) benign	1 lab	ad90ebabed
2:179500410 TTN G>A	2	179500410	179500410	G	A	TTN	c.41641C>T	NM_001267550.2	NP_001254479.2:p.(Arg13881Ter)	NC_000002.11:g.179500410G>A	(Likely) pathogenic	1 lab	ad984e546e
17:59878652 BRIP1 G>A	17	59878652	59878652	G	A	BRIP1	c.1102C>T	NM_032043.3	NP_114432.2:p.(Pro368Ser)	NC_000017.10:g.59878652G>A	VUS	1 lab	ad9913d5df
3:37050422 MLH1 T>C	3	37050422	37050422	T	C	MLH1	c.545+26T>C	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37050422T>C	(Likely) benign	1 lab	ad99dad83b
2:99012747 CNGA3 C>T	2	99012747	99012747	C	T	CNGA3	c.1114C>T	NM_001298.2	NP_001289.1:p.(Pro372Ser)	NC_000002.11:g.99012747C>T	(Likely) pathogenic	1 lab	ad9c3c3078
18:29122691 DSG2 G>A	18	29122691	29122691	G	A	DSG2	c.2210G>A	NM_001943.3	NP_001934.2:p.(Gly737Asp)	NC_000018.9:g.29122691G>A	VUS	1 lab	ac1cb7e5f8
16:9923342 GRIN2A G>C	16	9923342	9923342	G	C	GRIN2A	c.1945C>G	NM_000833.3	NP_000824.1:p.(Leu649Val)	NC_000016.9:g.9923342G>C	(Likely) pathogenic	1 lab	ada0fbc823
11:118352438 KMT2A AAGAAAG>A	11	118352438	118352449	AAGAAAG	A	KMT2A	c.3649_3654del	NM_001197104.2	NP_001184033.1:p.(Glu1217_Lys1218del)	NC_000011.9:g.118352444_118352449del	VUS	1 lab	0c2917e7f8
8:144900200 PUF60 G>A	8	144900200	144900200	G	A	PUF60	c.649C>T	NM_078480.3	NP_510965.1:p.(Gln217Ter)	NC_000008.10:g.144900200G>A	(Likely) pathogenic	1 lab	ada7bd7d44
12:6128755 VWF C>G	12	6128755	6128755	C	G	VWF	c.3829G>C	NM_000552.3	NP_000543.2:p.(Asp1277His)	NC_000012.11:g.6128755C>G	VUS	1 lab	adaa05275a
13:32950844 BRCA2 A>T	13	32950844	32950844	A	T	BRCA2	c.8670A>T	NM_000059.3	NP_000050.2:p.(Leu2890=)	NC_000013.10:g.32950844A>T	(Likely) benign	1 lab	adb3a1e764
13:32900757 BRCA2 A>T	13	32900757	32900757	A	T	BRCA2	c.631+7A>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900757A>T	(Likely) benign	1 lab	adb3ce47b8
12:52886641 KRT6A C>T	12	52886641	52886641	C	T	KRT6A	c.332G>A	NM_005554.4	NP_005545.1:p.(Gly111Asp)	NC_000012.11:g.52886641C>T	(Likely) benign	1 lab	0c2959edb5
8:61761624 CHD7 G>A	8	61761624	61761624	G	A	CHD7	c.5315G>A	NM_017780.3	NP_060250.2:p.(Trp1772Ter)	NC_000008.10:g.61761624G>A	(Likely) pathogenic	1 lab	adb5a2b612
12:111348972 MYL2 T>C	12	111348972	111348972	T	C	MYL2	c.410A>G	NM_000432.3	NP_000423.2:p.(Gln137Arg)	NC_000012.11:g.111348972T>C	(Likely) benign	1 lab	adba1bfd8f
X:38178112 RPGR C>G	X	38178112	38178112	C	G	RPGR	c.439G>C	NM_001034853.1	NP_001030025.1:p.(Ala147Pro)	NC_000023.10:g.38178112C>G	VUS	1 lab	adba549d23
12:33049570 PKP2 C>T	12	33049570	33049570	C	T	PKP2	c.96G>A	NM_004572.3	NP_004563.2:p.(Leu32=)	NC_000012.11:g.33049570C>T	(Likely) benign	1 lab	adbbda478f
14:24729234 TGM1 C>T	14	24729234	24729234	C	T	TGM1	c.788G>A	NM_000359.2	NP_000350.1:p.(Trp263Ter)	NC_000014.8:g.24729234C>T	(Likely) pathogenic	1 lab	adbc0ee19d
17:42284881 UBTF CAG>C	17	42284881	42284885	CAG	C	UBTF	c.2108_2109del	NM_014233.4	NP_055048.1:p.(Ser703Ter)	NC_000017.10:g.42284884_42284885del	VUS	1 lab	adbd70dcf0
5:112128141 APC A>G	5	112128141	112128141	A	G	APC	c.646-2A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112128141A>G	(Likely) pathogenic	1 lab	adbf9adf0b
2:48026371 MSH6 A>T	2	48026371	48026371	A	T	MSH6	c.1249A>T	NM_000179.2	NP_000170.1:p.(Lys417Ter)	NC_000002.11:g.48026371A>T	(Likely) pathogenic	1 lab	adc750f481
19:6679219 C3 T>G	19	6679219	6679219	T	G	C3	c.4547A>C	NM_000064.2	NP_000055.2:p.(Glu1516Ala)	NC_000019.9:g.6679219T>G	VUS	1 lab	ac6a0d618d
20:62294062 RTEL1 G>A	20	62294062	62294062	G	A	RTEL1	c.549+82G>A	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62294062G>A	(Likely) benign	1 lab	adc9ae23c0
9:98247975 PTCH1 C>CATGT	9	98247975	98247981	C	CATGT	PTCH1	c.572_575dup	NM_000264.3	NP_000255.2:p.(Met192IlefsTer61)	NC_000009.11:g.98247978_98247981dup	(Likely) pathogenic	1 lab	adce0fe9ea
19:15164442 CASP14 G>A	19	15164442	15164442	G	A	CASP14	c.177G>A	NM_012114.3	NP_036246.1:p.(Glu59=)	NC_000019.9:g.15164442G>A	VUS	1 lab	0c2ad52b0f
14:76211925 TTLL5 G>A	14	76211925	76211925	G	A	TTLL5	c.1487+1G>A	NM_015072.4	NP_055887.3:p.?	NC_000014.8:g.76211925G>A	(Likely) pathogenic	1 lab	adcf483a1a
12:52159701 SCN8A C>T	12	52159701	52159701	C	T	SCN8A	c.2791C>T	NM_014191.3	NP_055006.1:p.(Arg931Ter)	NC_000012.11:g.52159701C>T	(Likely) pathogenic	1 lab	adcf7f49d5
9:77407687 TRPM6 C>A	9	77407687	77407687	C	A	TRPM6	c.2392-1G>T	NM_017662.4	NP_060132.3:p.?	NC_000009.11:g.77407687C>A	(Likely) pathogenic	1 lab	add1a6c1de
16:30722344 SRCAP C>T	16	30722344	30722344	C	T	SRCAP	c.1253C>T	NM_006662.2	NP_006653.2:p.(Ala418Val)	NC_000016.9:g.30722344C>T	VUS	1 lab	add4955edf
3:46010077 FYCO1 C>T	3	46010077	46010077	C	T	FYCO1	c.749G>A	NM_024513.4	NP_078789.2:p.(Arg250Gln)	NC_000003.11:g.46010077C>T	(Likely) benign	1 lab	0c2ceec892
22:51064656 ARSA C>T	22	51064656	51064656	C	T	ARSA	c.905G>A	NM_000487.5	NP_000478.3:p.(Cys302Tyr)	NC_000022.10:g.51064656C>T	(Likely) pathogenic	1 lab	add4fdfc82
11:2154896 IGF2 C>G	11	2154896	2154896	C	G	IGF2	c.158-1G>C	NM_000612.6	NP_000603.1:p.?	NC_000011.9:g.2154896C>G	VUS	1 lab	1b2ee52324
1:16262288 SPEN C>T	1	16262288	16262288	C	T	SPEN	c.9553C>T	NM_015001.3	NP_055816.2:p.(Arg3185Ter)	NC_000001.10:g.16262288C>T	(Likely) pathogenic	1 lab	add506d617
7:151265965 PRKAG2 C>T	7	151265965	151265965	C	T	PRKAG2	c.1107-37G>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151265965C>T	VUS	1 lab	add5210f29
2:179422425 TTN C>CAAAGCGGTT	2	179422425	179422426	C	CAAAGCGGTT	TTN	c.87655_87656insAACCGCTTT	NM_001267550.2	NP_001254479.2:p.(Gly29219delinsGluProLeuCys)	NC_000002.11:g.179422425_179422426insAAAGCGGTT	VUS	1 lab	add5279b9c
7:6022416 PMS2 T>C	7	6022416	6022416	T	C	PMS2	c.2174+39A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6022416T>C	(Likely) benign	1 lab	add92ab06f
17:41245948 BRCA1 G>A	17	41245948	41245948	G	A	BRCA1	c.1600C>T	NM_007294.3	NP_009225.1:p.(Gln534Ter)	NC_000017.10:g.41245948G>A	(Likely) pathogenic	1 lab	addc49a932
8:61763148 CHD7 G>A	8	61763148	61763148	G	A	CHD7	c.5501G>A	NM_017780.4	NP_060250.2:p.(Arg1834Lys)	NC_000008.10:g.61763148G>A	VUS	1 lab	0c2f3ead0c
7:98567804 TRRAP A>G	7	98567804	98567804	A	G	TRRAP	c.7582A>G	NM_001375524.1	NP_001362453.1:p.(Ile2528Val)	NC_000007.13:g.98567804A>G	VUS	1 lab	ade318b4d6
5:68805114 OCLN G>T	5	68805114	68805114	G	T	OCLN	c.197G>T	NM_002538.4	NP_002529.1:p.(Arg66Leu)	NC_000005.9:g.68805114G>T	VUS	1 lab	0c329711b9
10:67829262 CTNNA3 A>C	10	67829262	67829262	A	C	CTNNA3	c.1978-15T>G	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.67829262A>C	(Likely) benign	1 lab	ade6a39f12
11:108198335 ATM A>G	11	108198335	108198335	A	G	ATM	c.6976-37A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108198335A>G	(Likely) benign	1 lab	ade720f496
X:153171354 AVPR2 G>C	X	153171354	153171354	G	C	AVPR2	c.394G>C	NM_000054.4	NP_000045.1:p.(Ala132Pro)	NC_000023.10:g.153171354G>C	(Likely) pathogenic	1 lab	ade772bf4b
2:208986385 CRYGD A>G	2	208986385	208986385	A	G	CRYGD	c.*12T>C	NM_006891.4	NP_008822.2:p.?	NC_000002.11:g.208986385A>G	(Likely) benign	1 lab	0c352308bf
17:41245663 BRCA1 T>A	17	41245663	41245663	T	A	BRCA1	c.1885A>T	NM_007294.4	NP_009225.1:p.(Arg629Ter)	NC_000017.10:g.41245663T>A	(Likely) pathogenic	1 lab	adf4bd455a
1:161326631 SDHC G>T	1	161326631	161326631	G	T	SDHC	c.405+1G>T	NM_003001.3	NP_002992.1:p.?	NC_000001.10:g.161326631G>T	(Likely) pathogenic	1 lab	10f48b5b19
3:37089234 MLH1 C>T	3	37089234	37089234	C	T	MLH1	c.1896+60C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37089234C>T	(Likely) benign	1 lab	adf595ef9f
2:166848842 SCN1A C>T	2	166848842	166848842	C	T	SCN1A	c.4943G>A	NM_001165963.1	NP_001159435.1:p.(Arg1648His)	NC_000002.11:g.166848842C>T	(Likely) pathogenic	1 lab	adf63c5d30
7:128038580 IMPDH1 G>A	7	128038580	128038580	G	A	IMPDH1	c.962C>T	NM_000883.4	NP_000874.2:p.(Ala321Val)	NC_000007.13:g.128038580G>A	(Likely) pathogenic	1 lab	adf6565cca
1:197091069 ASPM T>TA	1	197091069	197091070	T	TA	ASPM	c.3845dup	NM_018136.5	NP_060606.3:p.(Thr1284AsnfsTer34)	NC_000001.10:g.197091070dup	(Likely) pathogenic	1 lab	0c3636887a
11:88961018 TYR C>T	11	88961018	88961018	C	T	TYR	c.1064C>T	NM_000372.5	NP_000363.1:p.(Ala355Val)	NC_000011.9:g.88961018C>T	(Likely) pathogenic	1 lab	adfa9d61ca
12:116413012 MED13L C>T	12	116413012	116413012	C	T	MED13L	c.5695G>A	NM_015335.4	NP_056150.1:p.(Gly1899Arg)	NC_000012.11:g.116413012C>T	(Likely) pathogenic	1 lab	adfb065c53
2:39222416 SOS1 T>C	2	39222416	39222416	T	C	SOS1	c.3194A>G	NM_005633.4	NP_005624.2:p.(Tyr1065Cys)	NC_000002.11:g.39222416T>C	VUS	1 lab	adfdc06503
2:166911203 SCN1A A>G	2	166911203	166911203	A	G	SCN1A	c.547T>C	NM_001165963.4	NP_001159435.1:p.(Phe183Leu)	NC_000002.11:g.166911203A>G	(Likely) pathogenic	1 lab	0c37757786
19:15353814 BRD4 C>G	19	15353814	15353814	C	G	BRD4	c.3066G>C	NM_058243.2	NP_490597.1:p.(Pro1022=)	NC_000019.9:g.15353814C>G	(Likely) benign	1 lab	10fa238f8f
11:76918340 MYO7A G>T	11	76918340	76918340	G	T	MYO7A	c.5749G>T	NM_000260.4	NP_000251.3:p.(Glu1917Ter)	NC_000011.9:g.76918340G>T	(Likely) pathogenic	1 lab	ae021570f0
X:149814163 MTM1 C>A	X	149814163	149814163	C	A	MTM1	c.686C>A	NM_000252.2	NP_000243.1:p.(Ser229Ter)	NC_000023.10:g.149814163C>A	(Likely) pathogenic	1 lab	ae032dadcf
15:43038291 TTBK2 A>G	15	43038291	43038291	A	G	TTBK2	c.3437T>C	NM_173500.3	NP_775771.3:p.(Val1146Ala)	NC_000015.9:g.43038291A>G	(Likely) benign	1 lab	ae04d6331c
19:4055127 ZBTB7A T>A	19	4055127	4055127	T	A	ZBTB7A	c.104A>T	NM_015898.2	NP_056982.1:p.(Asp35Val)	NC_000019.9:g.4055127T>A	VUS	1 lab	ae053ed50e
11:71152393 DHCR7 G>A	11	71152393	71152393	G	A	DHCR7	c.506C>T	NM_001360.3	NP_001351.2:p.(Ser169Leu)	NC_000011.9:g.71152393G>A	(Likely) pathogenic	1 lab	0c3abaf074
X:49062113 CACNA1F T>C	X	49062113	49062113	T	C	CACNA1F	c.5666A>G	NM_005183.4	NP_005174.2:p.(His1889Arg)	NC_000023.10:g.49062113T>C	VUS	1 lab	ae0e7406d3
12:111353575 MYL2 T>C	12	111353575	111353575	T	C	MYL2	c.113A>G	NM_000432.3	NP_000423.2:p.(Gln38Arg)	NC_000012.11:g.111353575T>C	VUS	1 lab	ae1067d6c0
1:41303467 KCNQ4 G>T	1	41303467	41303467	G	T	KCNQ4				NC_000001.10:g.41303467G>T	(Likely) pathogenic	1 lab	ae129ee6f2
19:45207392 CEACAM16 C>T	19	45207392	45207392	C	T	CEACAM16				NC_000019.9:g.45207392C>T	VUS	1 lab	ae14f67267
5:180057220 FLT4 C>T	5	180057220	180057220	C	T	FLT4	c.513+5G>A	NM_182925.4	NP_891555.2:p.?	NC_000005.9:g.180057220C>T	VUS	1 lab	ae164ac42d
1:169515726 F5 C>T	1	169515726	169515726	C	T	F5	c.1716G>A	NM_000130.4	NP_000121.2:p.(Glu572=)	NC_000001.10:g.169515726C>T	(Likely) benign	1 lab	ae164dbb58
8:61768596 CHD7 A>G	8	61768596	61768596	A	G	CHD7	c.6999A>G	NM_017780.3	NP_060250.2:p.(Pro2333=)	NC_000008.10:g.61768596A>G	(Likely) benign	1 lab	ae16e81f74
6:76576290 MYO6 C>T	6	76576290	76576290	C	T	MYO6	c.1722C>T	NM_004999.3	NP_004990.3:p.(Asp574=)	NC_000006.11:g.76576290C>T	(Likely) benign	1 lab	ae17c5358a
15:74635369 CYP11A1 G>A	15	74635369	74635369	G	A	CYP11A1	c.939C>T	NM_000781.2	NP_000772.2:p.(Phe313=)	NC_000015.9:g.74635369G>A	(Likely) benign	1 lab	ae19c57b09
2:167060615 SCN9A GTTGACT>G	2	167060615	167060626	GTTGACT	G	SCN9A	c.4585_4590del	NM_002977.3	NP_002968.1:p.(Ser1529_Gln1530del)	NC_000002.11:g.167060621_167060626del	VUS	1 lab	ae238ef353
17:17120352 FLCN C>T	17	17120352	17120352	C	T	FLCN	c.1176+31G>A	NM_144997.6	NP_659434.2:p.?	NC_000017.10:g.17120352C>T	(Likely) benign	1 lab	ae241342c0
22:21350285 LZTR1 C>G	22	21350285	21350285	C	G	LZTR1	c.2103C>G	NM_006767.4	NP_006758.2:p.(Pro701=)	NC_000022.10:g.21350285C>G	(Likely) benign	1 lab	10fc509596
5:112175719 APC TC>T	5	112175719	112175720	TC	T	APC	c.4429del	NM_000038.6	NP_000029.2:p.(Gln1477ArgfsTer30)	NC_000005.9:g.112175720del	(Likely) pathogenic	1 lab	ae27861cb8
21:36252866 RUNX1 G>A	21	36252866	36252866	G	A	RUNX1	c.496C>T	NM_001754.5	NP_001745.2:p.(Arg166Ter)	NC_000021.8:g.36252866G>A	(Likely) pathogenic	1 lab	ae2a156055
9:140622981 EHMT1 G>A	9	140622981	140622981	G	A	EHMT1	c.823G>A	NM_024757.4	NP_079033.4:p.(Ala275Thr)	NC_000009.11:g.140622981G>A	(Likely) pathogenic	1 lab	ae2a9bf4f4
6:76624685 MYO6 C>T	6	76624685	76624685	C	T	MYO6	c.3814C>T	NM_004999.3	NP_004990.3:p.(Arg1272Trp)	NC_000006.11:g.76624685C>T	VUS	1 lab	ae2c0994ac
3:38805044 SCN10A G>A	3	38805044	38805044	G	A	SCN10A	c.643C>T	NM_006514.4	NP_006505.4:p.(Arg215Trp)	NC_000003.11:g.38805044G>A	VUS	1 lab	ae2c3a6b5a
16:71127770 HYDIN C>T	16	71127770	71127770	C	T	HYDIN	c.1396G>A	NM_001270974.2	NP_001257903.1:p.(Glu466Lys)	NC_000016.9:g.71127770C>T	VUS	1 lab	0c434727e3
X:108868163 KCNE5 C>A	X	108868163	108868163	C	A	KCNE5	c.87G>T	NM_012282.2	NP_036414.1:p.(Leu29Phe)	NC_000023.10:g.108868163C>A	(Likely) benign	1 lab	ae2e03f501
17:8021608 ALOXE3 G>C	17	8021608	8021608	G	C	ALOXE3	c.-300C>G	NM_021628.2	NP_067641.2:p.?	NC_000017.10:g.8021608G>C	(Likely) benign	1 lab	ae2ee09272
22:51159932 MISSING T>TG	22	51159932	51159940	T	TG	MISSING				NC_000022.10:g.51159940dup	(Likely) pathogenic	1 lab	ae3203fdbc
12:9010148 A2ML1 G>T	12	9010148	9010148	G	T	A2ML1	c.3071G>T	NM_144670.4	NP_653271.2:p.(Ser1024Ile)	NC_000012.11:g.9010148G>T	(Likely) benign	1 lab	ae3536552e
19:38991283 RYR1 G>A	19	38991283	38991283	G	A	RYR1	c.7361G>A	NM_000540.2	NP_000531.2:p.(Arg2454His)	NC_000019.9:g.38991283G>A	(Likely) pathogenic	1 lab	ae385d7084
12:88481688 CEP290 G>A	12	88481688	88481688	G	A	CEP290				NC_000012.11:g.88481688G>A	VUS	1 lab	ae38cd3b66
2:47709098 MSH2 G>T	2	47709098	47709098	G	T	MSH2	c.2635-820G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47709098G>T	(Likely) benign	1 lab	ae3b52a459
18:29078295 DSG2 G>A	18	29078295	29078295	G	A	DSG2	c.45+36G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29078295G>A	(Likely) benign	1 lab	ae4367d6a1
12:49373361 WNT1 T>TA	12	49373361	49373362	T	TA	WNT1				NC_000012.11:g.49373362dup	(Likely) pathogenic	1 lab	ae4639f014
1:120484375 NOTCH2 G>A	1	120484375	120484375	G	A	NOTCH2	c.2755C>T	NM_024408.4	NP_077719.2:p.(Pro919Ser)	NC_000001.10:g.120484375G>A	VUS	1 lab	ae464669fb
14:24551831 NRL G>A	14	24551831	24551831	G	A	NRL	c.227C>T	NM_006177.5	NP_006168.1:p.(Ala76Val)	NC_000014.8:g.24551831G>A	VUS	1 lab	ae4a68fa95
3:67451197 SUCLG2 G>A	3	67451197	67451197	G	A	SUCLG2	c.1141C>T	NM_003848.4	NP_003839.2:p.(Arg381Trp)	NC_000003.11:g.67451197G>A	(Likely) benign	1 lab	ae4c40dd13
22:51020997 CHKB A>G	22	51020997	51020997	A	G	CHKB	c.214T>C	NM_005198.4	NP_005189.2:p.(Tyr72His)	NC_000022.10:g.51020997A>G	(Likely) benign	1 lab	ae54113cc6
2:179485577 TTN T>A	2	179485577	179485577	T	A	TTN	c.45760A>T	NM_001267550.2	NP_001254479.2:p.(Ile15254Phe)	NC_000002.11:g.179485577T>A	(Likely) benign	1 lab	ae59c55562
14:29237138 FOXG1 A>C	14	29237138	29237138	A	C	FOXG1	c.653A>C	NM_005249.4	NP_005240.3:p.(Tyr218Ser)	NC_000014.8:g.29237138A>C	(Likely) pathogenic	1 lab	ae5d43e382
X:41048681 USP9X G>GTTTTCT	X	41048681	41048682	G	GTTTTCT	USP9X	c.3930_3931insTTTTCT	NM_001039590.2	NP_001034679.2:p.(Lys1310_Ala1311insPheSer)	NC_000023.10:g.41048681_41048682insTTTTCT	VUS	1 lab	ae5eb5e49a
2:29498101 ALK A>C	2	29498101	29498101	A	C	ALK	c.1913-8T>G	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29498101A>C	VUS	1 lab	af66cd92e2
3:37070399 MLH1 G>T	3	37070399	37070399	G	T	MLH1	c.1534G>T	NM_000249.3	NP_000240.1:p.(Glu512Ter)	NC_000003.11:g.37070399G>T	(Likely) pathogenic	1 lab	ae5fc277fe
16:21771873 OTOA G>A	16	21771873	21771873	G	A	OTOA	c.*12G>A	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21771873G>A	(Likely) benign	1 lab	ae60fb8d5f
4:79428796 FRAS1 C>T	4	79428796	79428796	C	T	FRAS1	c.9504+34C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79428796C>T	(Likely) benign	1 lab	125102740d
4:186427701 PDLIM3 G>A	4	186427701	186427701	G	A	PDLIM3	c.768C>T	NM_014476.6	NP_055291.2:p.(Leu256=)	NC_000004.11:g.186427701G>A	(Likely) benign	1 lab	10ff7fde12
15:73615047 HCN4 A>C	15	73615047	73615047	A	C	HCN4	c.3387T>G	NM_005477.3	NP_005468.1:p.(Ser1129Arg)	NC_000015.9:g.73615047A>C	(Likely) benign	1 lab	ae63507022
2:47635521 MSH2 T>TACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTTCCAGGCTGGAGGGCGGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	2	47635521	47635537	T	TACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTTCCAGGCTGGAGGGCGGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	MSH2	c.212-4_212-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTTCCAGGCTGGAGGGCGGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACTTTTTTTTTTTTT	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635536_47635537insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTTCCAGGCTGGAGGGCGGTGGCGCGACCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACTTTTTTTTTTTTT	(Likely) pathogenic	1 lab	ae658fc552
7:107556068 DLD CAG>C	7	107556068	107556070	CAG	C	DLD	c.803_804del	NM_000108.5	NP_000099.2:p.(Gln268ArgfsTer3)	NC_000007.13:g.107556069_107556070del	(Likely) pathogenic	1 lab	ae66ec1d69
19:17476153 PLVAP T>G	19	17476153	17476153	T	G	PLVAP	c.1121A>C	NM_031310.3	NP_112600.1:p.(Gln374Pro)	NC_000019.9:g.17476153T>G	(Likely) benign	1 lab	110237ac17
8:38947669 ADAM9 G>A	8	38947669	38947669	G	A	ADAM9	c.2172G>A	NM_003816.2	NP_003807.1:p.(Trp724Ter)	NC_000008.10:g.38947669G>A	(Likely) pathogenic	1 lab	ae6b5c2012
2:241656788 KIF1A C>T	2	241656788	241656788	C	T	KIF1A				NC_000002.11:g.241656788C>T	VUS	1 lab	ae6d5e3c02
2:179571288 TTN G>A	2	179571288	179571288	G	A	TTN	c.29313C>T	NM_001267550.2	NP_001254479.2:p.(Cys9771=)	NC_000002.11:g.179571288G>A	(Likely) benign	1 lab	ae6e3e65e7
2:227985763 COL4A4 GC>G	2	227985763	227985765	GC	G	COL4A4	c.293del	NM_000092.4	NP_000083.3:p.(Gly98AlafsTer23)	NC_000002.11:g.227985765del	(Likely) pathogenic	1 lab	ae6e42b667
17:7918018 GUCY2D C>T	17	7918018	7918018	C	T	GUCY2D	c.2512C>T	NM_000180.3	NP_000171.1:p.(Arg838Cys)	NC_000017.10:g.7918018C>T	(Likely) pathogenic	1 lab	ae72b7ee22
15:68504074 CLN6 T>TA	15	68504074	68504075	T	TA	CLN6	c.424dup	NM_017882.3	NP_060352.1:p.(Tyr142LeufsTer9)	NC_000015.9:g.68504075dup	(Likely) pathogenic	1 lab	ae814e278d
X:38145911 RPGR C>T	X	38145911	38145911	C	T	RPGR	c.2341G>A	NM_001034853.1	NP_001030025.1:p.(Ala781Thr)	NC_000023.10:g.38145911C>T	(Likely) benign	1 lab	ae839db18d
16:2160364 PKD1 G>A	16	2160364	2160364	G	A	PKD1	c.4804C>T	NM_001009944.3	NP_001009944.3:p.(Arg1602Cys)	NC_000016.9:g.2160364G>A	VUS	1 lab	0c552e7703
16:2168006 PKD1 C>A	16	2168006	2168006	C	A	PKD1	c.987G>T	NM_001009944.2	NP_001009944.2:p.(Gly329=)	NC_000016.9:g.2168006C>A	(Likely) benign	1 lab	1109ca1797
2:159389776 PKP4 G>A	2	159389776	159389776	G	A	PKP4	c.80G>A	NM_003628.4	NP_003619.2:p.(Gly27Asp)	NC_000002.11:g.159389776G>A	VUS	1 lab	ae91d172f4
12:6125807 VWF T>C	12	6125807	6125807	T	C	VWF	c.5186A>G	NM_000552.3	NP_000543.2:p.(Gln1729Arg)	NC_000012.11:g.6125807T>C	(Likely) benign	1 lab	ae95b2a7cb
15:93496803 CHD2 G>A	15	93496803	93496803	G	A	CHD2	c.1719G>A	NM_001271.3	NP_001262.3:p.(Thr573=)	NC_000015.9:g.93496803G>A	(Likely) pathogenic	1 lab	ae963b1a7f
22:38379457 SOX10 A>G	22	38379457	38379457	A	G	SOX10	c.335T>C	NM_006941.4	NP_008872.1:p.(Met112Thr)	NC_000022.10:g.38379457A>G	(Likely) pathogenic	1 lab	ae96ed076c
7:35242131 TBX20 G>A	7	35242131	35242131	G	A	TBX20	c.1255C>T	NM_001077653.2	NP_001071121.1:p.(Pro419Ser)	NC_000007.13:g.35242131G>A	VUS	1 lab	1115db069b
X:76874335 ATRX T>C	X	76874335	76874335	T	C	ATRX	c.5387A>G	NM_000489.3	NP_000480.2:p.(Asp1796Gly)	NC_000023.10:g.76874335T>C	(Likely) pathogenic	1 lab	ae9add8f19
11:36597796 RAG1 A>G	11	36597796	36597796	A	G	RAG1	c.2942A>G	NM_000448.2	NP_000439.1:p.(Gln981Arg)	NC_000011.9:g.36597796A>G	VUS	1 lab	ae9dd7b38c
1:237949287 RYR2 G>T	1	237949287	237949287	G	T	RYR2	c.13279G>T	NM_001035.2	NP_001026.2:p.(Glu4427Ter)	NC_000001.10:g.237949287G>T	VUS	1 lab	ae9e8a2d6c
3:37090489 MLH1 C>A	3	37090489	37090489	C	A	MLH1	c.2084C>A	NM_000249.3	NP_000240.1:p.(Ser695Ter)	NC_000003.11:g.37090489C>A	(Likely) pathogenic	1 lab	aea28b08ce
16:9916205 GRIN2A C>T	16	9916205	9916205	C	T	GRIN2A				NC_000016.9:g.9916205C>T	(Likely) pathogenic	1 lab	aea2989c48
1:26126763 SELENON C>T	1	26126763	26126763	C	T	SELENON	c.42C>T	NM_020451.2	NP_065184.2:p.(Pro14=)	NC_000001.10:g.26126763C>T	(Likely) benign	1 lab	aea9ceab80
11:108186698 ATM G>C	11	108186698	108186698	G	C	ATM	c.6096-40G>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108186698G>C	(Likely) benign	1 lab	aea9dafe8e
6:33132117 COL11A2 A>G	6	33132117	33132117	A	G	COL11A2	c.4997T>C	NM_080680.2	NP_542411.2:p.(Leu1666Pro)	NC_000006.11:g.33132117A>G	VUS	1 lab	aea9df18f1
14:58937452 KIAA0586 G>A	14	58937452	58937452	G	A	KIAA0586	c.2712+11G>A	NM_001244189.1	NP_001231118.1:p.?	NC_000014.8:g.58937452G>A	(Likely) benign	1 lab	aeaa750472
5:112163704 APC G>C	5	112163704	112163704	G	C	APC	c.1626+1G>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112163704G>C	(Likely) pathogenic	1 lab	aeaf35a4c9
19:38980828 RYR1 G>A	19	38980828	38980828	G	A	RYR1	c.5927G>A	NM_000540.2	NP_000531.2:p.(Arg1976His)	NC_000019.9:g.38980828G>A	VUS	1 lab	aeb29405bf
18:44157812 LOXHD1 C>A	18	44157812	44157812	C	A	LOXHD1	c.1828G>T	NM_144612.6	NP_653213.6:p.(Glu610Ter)	NC_000018.9:g.44157812C>A	(Likely) pathogenic	1 lab	aeb3270e4e
6:7580444 DSP C>T	6	7580444	7580444	C	T	DSP	c.4021C>T	NM_004415.4	NP_004406.2:p.(Arg1341Cys)	NC_000006.11:g.7580444C>T	VUS	1 lab	aeb3b8db3e
12:53880274 MAP3K12 GTTTC>G	12	53880274	53880281	GTTTC	G	MAP3K12	c.574_577del	NM_001193511.2	NP_001180440.1:p.(Glu192ProfsTer9)	NC_000012.11:g.53880278_53880281del	VUS	1 lab	aeb6b8221b
X:22237167 PHEX G>C	X	22237167	22237167	G	C	PHEX	c.1715G>C	NM_000444.6	NP_000435.3:p.(Gly572Ala)	NC_000023.10:g.22237167G>C	(Likely) pathogenic	1 lab	aeb7a84e9c
7:91645455 AKAP9 G>A	7	91645455	91645455	G	A	AKAP9	c.3625G>A	NM_005751.4	NP_005742.4:p.(Val1209Ile)	NC_000007.13:g.91645455G>A	(Likely) benign	1 lab	aeb9f0549f
20:32883308 AHCY G>A	20	32883308	32883308	G	A	AHCY	c.28C>T	NM_001161766.2	NP_001155238.1:p.(Arg10Trp)	NC_000020.10:g.32883308G>A	(Likely) benign	1 lab	0c562cfb55
11:17793938 KCNC1 C>T	11	17793938	17793938	C	T	KCNC1	c.1297C>T	NM_001112741.2	NP_001106212.1:p.(Pro433Ser)	NC_000011.9:g.17793938C>T	(Likely) pathogenic	1 lab	aebb46f28d
9:136405776 ADAMTSL2 G>A	9	136405776	136405776	G	A	ADAMTSL2	c.469G>A	NM_014694.3	NP_055509.2:p.(Gly157Ser)	NC_000009.11:g.136405776G>A	VUS	1 lab	aebbb46e61
19:13427902 CACNA1A G>A	19	13427902	13427902	G	A	CACNA1A	c.1558+24C>T	NM_023035.3	NP_075461.2:p.?	NC_000019.9:g.13427902G>A	(Likely) benign	1 lab	1116ab6fb2
1:237777320 RYR2 A>G	1	237777320	237777320	A	G	RYR2	c.4911-19A>G	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237777320A>G	(Likely) benign	1 lab	aebe7cbe84
19:50780078 MYH14 G>A	19	50780078	50780078	G	A	MYH14	c.3745G>A	NM_001145809.1	NP_001139281.1:p.(Glu1249Lys)	NC_000019.9:g.50780078G>A	VUS	1 lab	aebfc6f903
3:10400536 ATP2B2 T>A	3	10400536	10400536	T	A	ATP2B2	c.1975A>T	NM_001001331.3	NP_001001331.1:p.(Lys659Ter)	NC_000003.11:g.10400536T>A	(Likely) pathogenic	1 lab	aec02d18f6
3:38913189 SCN11A T>C	3	38913189	38913189	T	C	SCN11A	c.3506A>G	NM_014139.3	NP_054858.2:p.(Asn1169Ser)	NC_000003.11:g.38913189T>C	VUS	1 lab	aec15fd308
14:58925264 KIAA0586 G>T	14	58925264	58925264	G	T	KIAA0586				NC_000014.8:g.58925264G>T	(Likely) pathogenic	1 lab	aec3b8319e
17:29528054 NF1 G>C	17	29528054	29528054	G	C	NF1	c.1063-1G>C	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29528054G>C	(Likely) pathogenic	1 lab	aec71682dd
3:47098661 SETD2 G>A	3	47098661	47098661	G	A	SETD2	c.6613C>T	NM_014159.7	NP_054878.5:p.(His2205Tyr)	NC_000003.11:g.47098661G>A	VUS	1 lab	0c56891711
3:196807944 DLG1 T>C	3	196807944	196807944	T	C	DLG1	c.1982A>G	NM_004087.2	NP_004078.2:p.(Asn661Ser)	NC_000003.11:g.196807944T>C	VUS	1 lab	af049cdbe1
1:228404256 OBSCN C>T	1	228404256	228404256	C	T	OBSCN	c.2230C>T	NM_001271223.2	NP_001258152.2:p.(Arg744Cys)	NC_000001.10:g.228404256C>T	(Likely) benign	1 lab	aec84803d1
7:151483445 PRKAG2 A>G	7	151483445	151483445	A	G	PRKAG2	c.186+111T>C	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151483445A>G	(Likely) benign	1 lab	aec8e34332
16:28498812 CLN3 AC>A	16	28498812	28498814	AC	A	CLN3	c.424del	NM_001042432.2	NP_001035897.1:p.(Val142LeufsTer39)	NC_000016.9:g.28498814del	(Likely) pathogenic	1 lab	aecb859912
1:225706926 ENAH T>C	1	225706926	225706926	T	C	ENAH	c.776A>G	NM_001008493.1	NP_001008493.1:p.(Glu259Gly)	NC_000001.10:g.225706926T>C	VUS	1 lab	aecc67bc77
2:167108344 SCN9A G>A	2	167108344	167108344	G	A	SCN9A	c.3403C>T	NM_001365536.1	NP_001352465.1:p.(Pro1135Ser)	NC_000002.11:g.167108344G>A	(Likely) benign	1 lab	aecf68b087
X:39934079 BCOR C>T	X	39934079	39934079	C	T	BCOR	c.520G>A	NM_001123385.1	NP_001116857.1:p.(Asp174Asn)	NC_000023.10:g.39934079C>T	VUS	1 lab	aed546f724
8:41812811 KAT6A T>C	8	41812811	41812811	T	C	KAT6A	c.1598+3A>G	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41812811T>C	VUS	1 lab	aedb9c5fba
3:37053455 MLH1 A>G	3	37053455	37053455	A	G	MLH1	c.589-47A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053455A>G	(Likely) benign	1 lab	aee0525c69
14:24551861 NRL C>A	14	24551861	24551861	C	A	NRL	c.197G>T	NM_006177.4	NP_006168.1:p.(Arg66Leu)	NC_000014.8:g.24551861C>A	VUS	1 lab	aee1165021
22:21351001 LZTR1 C>T	22	21351001	21351001	C	T	LZTR1	c.2236C>T	NM_006767.4	NP_006758.2:p.(Pro746Ser)	NC_000022.10:g.21351001C>T	VUS	1 lab	aee3727119
19:17785502 UNC13A C>T	19	17785502	17785502	C	T	UNC13A	c.116G>A	NM_001080421.2	NP_001073890.2:p.(Arg39Gln)	NC_000019.9:g.17785502C>T	(Likely) benign	1 lab	aee4eeb6df
1:1462860 ATAD3A C>T	1	1462860	1462860	C	T	ATAD3A	c.1338-215C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1462860C>T	VUS	1 lab	0c58f218f5
17:41245759 BRCA1 C>T	17	41245759	41245759	C	T	BRCA1	c.1789G>A	NM_007294.3	NP_009225.1:p.(Glu597Lys)	NC_000017.10:g.41245759C>T	(Likely) benign	1 lab	aeeb5f78fd
2:48028192 MSH6 C>T	2	48028192	48028192	C	T	MSH6	c.3070C>T	NM_000179.3	NP_000170.1:p.(Arg1024Trp)	NC_000002.11:g.48028192C>T	VUS	1 lab	0c5d8672a9
X:32663245 DMD A>T	X	32663245	32663245	A	T	DMD	c.985T>A	NM_004006.3	NP_003997.2:p.(Ser329Thr)	NC_000023.10:g.32663245A>T	(Likely) benign	1 lab	aeecc3ef5c
2:179438057 TTN G>A	2	179438057	179438057	G	A	TTN	c.72802C>T	NM_001267550.2	NP_001254479.2:p.(Arg24268Cys)	NC_000002.11:g.179438057G>A	VUS	1 lab	0c60e9fc78
X:69500636 ARR3 C>A	X	69500636	69500636	C	A	ARR3	c.1034C>A	NM_004312.3	NP_004303.2:p.(Pro345His)	NC_000023.10:g.69500636C>A	VUS	1 lab	aef4bbc249
14:31349850 COCH G>A	14	31349850	31349850	G	A	COCH	c.539G>A	NM_004086.2	NP_004077.1:p.(Arg180Gln)	NC_000014.8:g.31349850G>A	(Likely) benign	1 lab	aef665e0e2
17:41223063 BRCA1 G>C	17	41223063	41223063	G	C	BRCA1	c.4868C>G	NM_007294.3	NP_009225.1:p.(Ala1623Gly)	NC_000017.10:g.41223063G>C	(Likely) pathogenic	1 lab	aef6f41599
18:31318557 ASXL3 C>T	18	31318557	31318557	C	T	ASXL3	c.1189C>T	NM_030632.1	NP_085135.1:p.(Gln397Ter)	NC_000018.9:g.31318557C>T	(Likely) pathogenic	1 lab	aef7791bb7
2:202617957 ALS2 G>A	2	202617957	202617957	G	A	ALS2	c.1649C>T	NM_020919.3	NP_065970.2:p.(Pro550Leu)	NC_000002.11:g.202617957G>A	VUS	1 lab	aef7893ead
12:48371427 COL2A1 C>T	12	48371427	48371427	C	T	COL2A1	c.3121G>A	NM_001844.4	NP_001835.3:p.(Gly1041Ser)	NC_000012.11:g.48371427C>T	(Likely) pathogenic	1 lab	aef99cfa8d
9:117846560 TNC C>G	9	117846560	117846560	C	G	TNC	c.2059G>C	NM_002160.3	NP_002151.2:p.(Glu687Gln)	NC_000009.11:g.117846560C>G	(Likely) benign	1 lab	aefb1f2c4d
2:228157951 COL4A3 G>A	2	228157951	228157951	G	A	COL4A3				NC_000002.11:g.228157951G>A	(Likely) benign	1 lab	aefdc66012
17:19566799 ALDH3A2 C>T	17	19566799	19566799	C	T	ALDH3A2	c.1094C>T	NM_001031806.1	NP_001026976.1:p.(Ser365Leu)	NC_000017.10:g.19566799C>T	VUS	1 lab	af01018000
3:38938540 SCN11A T>C	3	38938540	38938540	T	C	SCN11A	c.2199A>G	NM_014139.2	NP_054858.2:p.(Pro733=)	NC_000003.11:g.38938540T>C	(Likely) benign	1 lab	af023c5f1b
5:58286712 PDE4D G>C	5	58286712	58286712	G	C	PDE4D	c.1206C>G	NM_001104631.1	NP_001098101.1:p.(Asn402Lys)	NC_000005.9:g.58286712G>C	VUS	1 lab	af0680a643
14:23900950 MYH7 T>C	14	23900950	23900950	T	C	MYH7	c.639+20A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23900950T>C	(Likely) benign	1 lab	af08b63997
11:108180994 ATM A>G	11	108180994	108180994	A	G	ATM	c.5870A>G	NM_000051.3	NP_000042.3:p.(Tyr1957Cys)	NC_000011.9:g.108180994A>G	VUS	1 lab	af0963043d
19:40486241 MISSING C>T	19	40486241	40486241	C	T	MISSING				NC_000019.9:g.40486241C>T	VUS	1 lab	b087d25c2b
16:10996512 CIITA C>T	16	10996512	10996512	C	T	CIITA	c.632-3C>T	NM_001286402.1	NP_001273331.1:p.?	NC_000016.9:g.10996512C>T	(Likely) benign	1 lab	0c61406aa3
16:2167997 PKD1 G>A	16	2167997	2167997	G	A	PKD1	c.996C>T	NM_001009944.2	NP_001009944.2:p.(His332=)	NC_000016.9:g.2167997G>A	(Likely) benign	1 lab	111b9471c2
2:165997177 SCN3A C>T	2	165997177	165997177	C	T	SCN3A	c.2003G>A	NM_006922.4	NP_008853.3:p.(Gly668Glu)	NC_000002.11:g.165997177C>T	(Likely) benign	1 lab	af2013e2e4
8:61750761 CHD7 C>T	8	61750761	61750761	C	T	CHD7	c.4480C>T	NM_017780.3	NP_060250.2:p.(Arg1494Ter)	NC_000008.10:g.61750761C>T	(Likely) pathogenic	1 lab	af21badfcf
14:103430912 CDC42BPB C>T	14	103430912	103430912	C	T	CDC42BPB	c.2653G>A	NM_006035.4	NP_006026.3:p.(Ala885Thr)	NC_000014.8:g.103430912C>T	VUS	1 lab	0c65accb24
7:2579471 BRAT1 TG>T	7	2579471	2579474	TG	T	BRAT1	c.1446del	NM_152743.4	NP_689956.2:p.(Lys483ArgfsTer34)	NC_000007.13:g.2579474del	(Likely) pathogenic	1 lab	af24632e98
7:128490112 FLNC C>T	7	128490112	128490112	C	T	FLNC	c.5282C>T	NM_001458.4	NP_001449.3:p.(Ala1761Val)	NC_000007.13:g.128490112C>T	(Likely) benign	1 lab	af257d7d3a
19:47258867 FKRP C>T	19	47258867	47258867	C	T	FKRP	c.160C>T	NM_024301.4	NP_077277.1:p.(Arg54Trp)	NC_000019.9:g.47258867C>T	(Likely) pathogenic	1 lab	af2cef8100
19:50965222 MYBPC2 C>G	19	50965222	50965222	C	G	MYBPC2	c.3157C>G	NM_004533.3	NP_004524.3:p.(Pro1053Ala)	NC_000019.9:g.50965222C>G	(Likely) benign	1 lab	af2ef3aba5
11:66483377 SPTBN2 A>G	11	66483377	66483377	A	G	SPTBN2	c.233T>C	NM_006946.2	NP_008877.1:p.(Val78Ala)	NC_000011.9:g.66483377A>G	VUS	1 lab	af33fc3c40
2:216274852 FN1 TAAC>T	2	216274852	216274856	TAAC	T	FN1	c.1942-18_1942-16del	NM_212482.4	NP_997647.2:p.?	NC_000002.11:g.216274854_216274856del	(Likely) benign	1 lab	11237ad97e
4:1807288 FGFR3 G>T	4	1807288	1807288	G	T	FGFR3	c.1537G>T	NM_000142.4	NP_000133.1:p.(Asp513Tyr)	NC_000004.11:g.1807288G>T	VUS	1 lab	af38d53bf1
11:108150285 ATM A>G	11	108150285	108150285	A	G	ATM	c.3352A>G	NM_000051.4	NP_000042.3:p.(Thr1118Ala)	NC_000011.9:g.108150285A>G	(Likely) benign	1 lab	af3debe17a
12:32945131 PKP2 A>C	12	32945131	32945131	A	C	PKP2	c.*227T>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945131A>C	(Likely) benign	1 lab	af3f758607
2:179455379 TTN G>A	2	179455379	179455379	G	A	TTN	c.61073C>T	NM_001267550.2	NP_001254479.2:p.(Pro20358Leu)	NC_000002.11:g.179455379G>A	VUS	1 lab	af4004402b
11:118038996 SCN2B G>A	11	118038996	118038996	G	A	SCN2B	c.252C>T	NM_004588.5	NP_004579.1:p.(Arg84=)	NC_000011.9:g.118038996G>A	(Likely) benign	1 lab	af408ae7e0
8:61765386 CHD7 A>C	8	61765386	61765386	A	C	CHD7	c.6104-2A>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61765386A>C	(Likely) pathogenic	1 lab	af416410c3
20:35563560 SAMHD1 C>A	20	35563560	35563560	C	A	SAMHD1	c.381G>T	NM_015474.4	NP_056289.2:p.(Glu127Asp)	NC_000020.10:g.35563560C>A	VUS	1 lab	0c67392650
1:1167839 B3GALT6 G>C	1	1167839	1167839	G	C	B3GALT6	c.181G>C	NM_080605.3	NP_542172.2:p.(Val61Leu)	NC_000001.10:g.1167839G>C	VUS	1 lab	af41dc1bcc
12:22063133 ABCC9 C>A	12	22063133	22063133	C	A	ABCC9	c.1278G>T	NM_005691.3	NP_005682.2:p.(Trp426Cys)	NC_000012.11:g.22063133C>A	VUS	1 lab	af4388e294
8:61773581 CHD7 A>G	8	61773581	61773581	A	G	CHD7				NC_000008.10:g.61773581A>G	(Likely) pathogenic	1 lab	af48c3d2bf
X:111003141 ALG13 C>T	X	111003141	111003141	C	T	ALG13	c.3328C>T	NM_001099922.2	NP_001093392.1:p.(Gln1110Ter)	NC_000023.10:g.111003141C>T	VUS	1 lab	af5071ecb1
5:82835588 VCAN C>G	5	82835588	82835588	C	G	VCAN	c.6766C>G	NM_004385.5	NP_004376.2:p.(Leu2256Val)	NC_000005.9:g.82835588C>G	VUS	1 lab	0c68ec6b96
10:21414816 NEBL T>C	10	21414816	21414816	T	C	NEBL				NC_000010.10:g.21414816T>C	(Likely) benign	1 lab	af5286e35c
2:223086087 PAX3 C>T	2	223086087	223086087	C	T	PAX3				NC_000002.11:g.223086087C>T	(Likely) pathogenic	1 lab	af55ceda70
2:216274324 FN1 T>C	2	216274324	216274324	T	C	FN1	c.2261A>G	NM_212482.4	NP_997647.2:p.(Tyr754Cys)	NC_000002.11:g.216274324T>C	(Likely) benign	1 lab	af569673c2
2:227922109 COL4A4 T>A	2	227922109	227922109	T	A	COL4A4	c.2545+46A>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227922109T>A	(Likely) benign	1 lab	af56a0aea6
10:21108395 NEBL C>T	10	21108395	21108395	C	T	NEBL	c.2013G>A	NM_006393.2	NP_006384.1:p.(Pro671=)	NC_000010.10:g.21108395C>T	(Likely) benign	1 lab	af56da7347
1:152285090 FLG CT>C	1	152285090	152285091	CT	C	FLG	c.2271del	NM_002016.2	NP_002007.1:p.(Asp758ThrfsTer40)	NC_000001.10:g.152285091del	(Likely) pathogenic	1 lab	af5715554b
11:65480898 KAT5 G>A	11	65480898	65480898	G	A	KAT5	c.365G>A	NM_006388.4	NP_006379.2:p.(Arg122Gln)	NC_000011.9:g.65480898G>A	VUS	1 lab	0c6a5709fb
17:10446407 MYH2 A>T	17	10446407	10446407	A	T	MYH2	c.805+8T>A	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10446407A>T	(Likely) benign	1 lab	112437b72f
9:131388081 SPTAN1 CA>C	9	131388081	131388082	CA	C	SPTAN1	c.6104del	NM_001130438.3	NP_001123910.1:p.(Gln2035ArgfsTer33)	NC_000009.11:g.131388082del	(Likely) pathogenic	1 lab	af58b66127
5:112175339 APC A>T	5	112175339	112175339	A	T	APC	c.4048A>T	NM_000038.5	NP_000029.2:p.(Lys1350Ter)	NC_000005.9:g.112175339A>T	(Likely) pathogenic	1 lab	af5dea71e4
2:179516429 TTN C>T	2	179516429	179516429	C	T	TTN	c.39427G>A	NM_001267550.2	NP_001254479.2:p.(Val13143Ile)	NC_000002.11:g.179516429C>T	(Likely) benign	1 lab	af5fba4c9e
16:3781210 CREBBP G>C	16	3781210	3781210	G	C	CREBBP	c.5155C>G	NM_004380.2	NP_004371.2:p.(His1719Asp)	NC_000016.9:g.3781210G>C	(Likely) pathogenic	1 lab	af610c2794
2:215862539 ABCA12 A>C	2	215862539	215862539	A	C	ABCA12	c.3180-6T>G	NM_173076.2	NP_775099.2:p.?	NC_000002.11:g.215862539A>C	VUS	1 lab	af614885df
5:61668361 KIF2A T>G	5	61668361	61668361	T	G	KIF2A	c.1743T>G	NM_001098511.3	NP_001091981.1:p.(Phe581Leu)	NC_000005.9:g.61668361T>G	VUS	1 lab	0c6b23f377
2:8943222 KIDINS220 TC>T	2	8943222	8943224	TC	T	KIDINS220	c.638del	NM_020738.3	NP_065789.1:p.(Gly213GlufsTer7)	NC_000002.11:g.8943224del	(Likely) pathogenic	1 lab	af63fe9555
14:105167920 INF2 G>T	14	105167920	105167920	G	T	INF2	c.218G>T	NM_022489.4	NP_071934.3:p.(Gly73Val)	NC_000014.8:g.105167920G>T	(Likely) pathogenic	1 lab	af64111333
1:228430986 OBSCN C>T	1	228430986	228430986	C	T	OBSCN	c.3308C>T	NM_001271223.2	NP_001258152.2:p.(Thr1103Met)	NC_000001.10:g.228430986C>T	(Likely) benign	1 lab	af65efa85f
6:79735258 PHIP C>A	6	79735258	79735258	C	A	PHIP				NC_000006.11:g.79735258C>A	VUS	1 lab	af66c8eca2
2:73675719 MISSING A>G	2	73675719	73675719	A	G	MISSING				NC_000002.11:g.73675719A>G	VUS	1 lab	b10fb51654
15:48722988 FBN1 A>G	15	48722988	48722988	A	G	FBN1	c.6751T>C	NM_000138.5	NP_000129.3:p.(Cys2251Arg)	NC_000015.9:g.48722988A>G	(Likely) pathogenic	1 lab	af68d88c62
12:6204678 VWF C>G	12	6204678	6204678	C	G	VWF	c.605G>C	NM_000552.5	NP_000543.3:p.(Arg202Pro)	NC_000012.11:g.6204678C>G	VUS	1 lab	af68ee3e70
1:11174459 MTOR C>T	1	11174459	11174459	C	T	MTOR	c.7216G>A	NM_004958.3	NP_004949.1:p.(Val2406Met)	NC_000001.10:g.11174459C>T	(Likely) pathogenic	1 lab	af6954e0e1
1:169487821 F5 G>T	1	169487821	169487821	G	T	F5	c.6194-20C>A	NM_000130.4	NP_000121.2:p.?	NC_000001.10:g.169487821G>T	(Likely) benign	1 lab	af69954023
1:152279642 FLG G>C	1	152279642	152279642	G	C	FLG	c.7720C>G	NM_002016.2	NP_002007.1:p.(Gln2574Glu)	NC_000001.10:g.152279642G>C	(Likely) benign	1 lab	af6cd391a8
17:41226429 BRCA1 C>T	17	41226429	41226429	C	T	BRCA1	c.4594G>A	NM_007294.3	NP_009225.1:p.(Val1532Ile)	NC_000017.10:g.41226429C>T	(Likely) benign	1 lab	af70cb3a1f
16:56927328 SLC12A3 A>C	16	56927328	56927328	A	C	SLC12A3	c.2548+362A>C	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56927328A>C	(Likely) benign	1 lab	af71b9076d
8:42977874 POMK C>T	8	42977874	42977874	C	T	POMK	c.907C>T	NM_032237.4	NP_115613.1:p.(Arg303Ter)	NC_000008.10:g.42977874C>T	(Likely) pathogenic	1 lab	af793dff08
7:40039077 CDK13 C>A	7	40039077	40039077	C	A	CDK13	c.2160C>A	NM_003718.5	NP_003709.3:p.(Tyr720Ter)	NC_000007.13:g.40039077C>A	VUS	1 lab	af797b5de2
2:131355511 CFC1 C>G	2	131355511	131355511	C	G	CFC1	c.292G>C	NM_032545.3	NP_115934.1:p.(Val98Leu)	NC_000002.11:g.131355511C>G	VUS	1 lab	af7c96af1e
13:96293965 DZIP1 T>C	13	96293965	96293965	T	C	DZIP1	c.181A>G	NM_198968.4	NP_945319.1:p.(Arg61Gly)	NC_000013.10:g.96293965T>C	VUS	1 lab	0c6bdae7dc
X:138643842 F9 C>A	X	138643842	138643842	C	A	F9	c.998C>A	NM_000133.4	NP_000124.1:p.(Pro333His)	NC_000023.10:g.138643842C>A	(Likely) pathogenic	1 lab	af7f33b405
1:216138725 USH2A G>A	1	216138725	216138725	G	A	USH2A				NC_000001.10:g.216138725G>A	VUS	1 lab	af7f64714e
5:70942069 MCCC2 G>C	5	70942069	70942069	G	C	MCCC2	c.1181G>C	NM_022132.4	NP_071415.1:p.(Arg394Thr)	NC_000005.9:g.70942069G>C	VUS	1 lab	af836352eb
10:112541416 RBM20 A>G	10	112541416	112541416	A	G	RBM20	c.1049A>G	NM_001134363.2	NP_001127835.2:p.(Tyr350Cys)	NC_000010.10:g.112541416A>G	VUS	1 lab	af86687d8f
18:33779855 MOCOS C>T	18	33779855	33779855	C	T	MOCOS	c.509C>T	NM_017947.2	NP_060417.2:p.(Thr170Ile)	NC_000018.9:g.33779855C>T	(Likely) benign	1 lab	af869d70ce
6:35782437 LHFPL5 G>T	6	35782437	35782437	G	T	LHFPL5				NC_000006.11:g.35782437G>T	VUS	1 lab	af89291d23
3:37050315 MLH1 T>G	3	37050315	37050315	T	G	MLH1	c.464T>G	NM_000249.3	NP_000240.1:p.(Leu155Arg)	NC_000003.11:g.37050315T>G	(Likely) pathogenic	1 lab	af8d4a6ac0
8:61728993 CHD7 A>G	8	61728993	61728993	A	G	CHD7	c.2546A>G	NM_017780.4	NP_060250.2:p.(Asp849Gly)	NC_000008.10:g.61728993A>G	(Likely) pathogenic	1 lab	0c6ca1e055
9:88203364 AGTPBP1 G>A	9	88203364	88203364	G	A	AGTPBP1	c.2632C>T	NM_015239.2	NP_056054.2:p.(Arg878Trp)	NC_000009.11:g.88203364G>A	VUS	1 lab	af90e09437
19:38951101 RYR1 C>T	19	38951101	38951101	C	T	RYR1	c.2447C>T	NM_000540.2	NP_000531.2:p.(Pro816Leu)	NC_000019.9:g.38951101C>T	VUS	1 lab	af912af466
7:150648768 KCNH2 G>A	7	150648768	150648768	G	A	KCNH2	c.1713C>T	NM_000238.3	NP_000229.1:p.(Ile571=)	NC_000007.13:g.150648768G>A	(Likely) benign	1 lab	af9256a410
15:48748900 FBN1 C>G	15	48748900	48748900	C	G	FBN1	c.5356G>C	NM_000138.4	NP_000129.3:p.(Val1786Leu)	NC_000015.9:g.48748900C>G	VUS	1 lab	af926c4b56
7:100225917 TFR2 C>T	7	100225917	100225917	C	T	TFR2	c.1403G>A	NM_003227.4	NP_003218.2:p.(Arg468His)	NC_000007.13:g.100225917C>T	VUS	1 lab	af943a05ce
9:2084101 SMARCA2 C>T	9	2084101	2084101	C	T	SMARCA2	c.2431C>T	NM_003070.5	NP_003061.3:p.(Arg811Cys)	NC_000009.11:g.2084101C>T	(Likely) pathogenic	1 lab	af9480f304
15:63340821 TPM1 G>T	15	63340821	63340821	G	T	TPM1	c.240+4470G>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63340821G>T	VUS	1 lab	af95e8816f
14:59107456 DACT1 C>A	14	59107456	59107456	C	A	DACT1	c.348C>A	NM_016651.5	NP_057735.2:p.(Asn116Lys)	NC_000014.8:g.59107456C>A	VUS	1 lab	af97648361
3:38627269 SCN5A G>A	3	38627269	38627269	G	A	SCN5A	c.2700C>T	NM_001099404.2	NP_001092874.1:p.(Ile900=)	NC_000003.11:g.38627269G>A	(Likely) benign	1 lab	0c6d2f11e3
8:38273402 FGFR1 G>C	8	38273402	38273402	G	C	FGFR1	c.1933C>G	NM_001174067.1	NP_001167538.1:p.(Leu645Val)	NC_000008.10:g.38273402G>C	(Likely) pathogenic	1 lab	af9a8b2181
10:89653834 PTEN CG>C	10	89653834	89653835	CG	C	PTEN	c.133del	NM_000314.4	NP_000305.3:p.(Val45TyrfsTer9)	NC_000010.10:g.89653835del	(Likely) pathogenic	1 lab	af9cf367d7
3:191093222 CCDC50 C>T	3	191093222	191093222	C	T	CCDC50				NC_000003.11:g.191093222C>T	VUS	1 lab	afa0adab23
2:179546396 TTN G>A	2	179546396	179546396	G	A	TTN	c.33164C>T	NM_001267550.2	NP_001254479.2:p.(Pro11055Leu)	NC_000002.11:g.179546396G>A	VUS	1 lab	0c6faded1c
1:207930437 CD46 G>A	1	207930437	207930437	G	A	CD46	c.176G>A	NM_002389.4	NP_002380.3:p.(Arg59Gln)	NC_000001.10:g.207930437G>A	VUS	1 lab	afa74c2916
2:145155889 ZEB2 G>T	2	145155889	145155889	G	T	ZEB2	c.2865C>A	NM_014795.3	NP_055610.1:p.(Tyr955Ter)	NC_000002.11:g.145155889G>T	(Likely) pathogenic	1 lab	afa96cb90c
19:33350730 SLC7A9 G>A	19	33350730	33350730	G	A	SLC7A9	c.873+17C>T	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33350730G>A	(Likely) benign	1 lab	afab467dfb
1:57341870 C8A AG>A	1	57341870	57341872	AG	A	C8A	c.454del	NM_000562.2	NP_000553.1:p.(Ala152GlnfsTer8)	NC_000001.10:g.57341872del	(Likely) pathogenic	1 lab	afab9492bf
13:32929050 BRCA2 C>T	13	32929050	32929050	C	T	BRCA2	c.7060C>T	NM_000059.3	NP_000050.2:p.(Gln2354Ter)	NC_000013.10:g.32929050C>T	(Likely) pathogenic	1 lab	afb0cd2a5f
2:47672686 MSH2 G>C	2	47672686	47672686	G	C	MSH2	c.1277-1G>C	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672686G>C	(Likely) pathogenic	1 lab	afb37befa3
11:67957447 KMT5B G>A	11	67957447	67957447	G	A	KMT5B	c.97C>T	NM_017635.4	NP_060105.3:p.(Gln33Ter)	NC_000011.9:g.67957447G>A	VUS	1 lab	afb717ab1b
1:94577132 ABCA4 T>C	1	94577132	94577132	T	C	ABCA4	c.164A>G	NM_000350.2	NP_000341.2:p.(His55Arg)	NC_000001.10:g.94577132T>C	(Likely) pathogenic	1 lab	afb85f7852
1:215956076 USH2A A>C	1	215956076	215956076	A	C	USH2A	c.10585+4T>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215956076A>C	VUS	1 lab	afbb58556a
3:45527218 LARS2 T>C	3	45527218	45527218	T	C	LARS2	c.1053T>C	NM_015340.3	NP_056155.1:p.(Leu351=)	NC_000003.11:g.45527218T>C	(Likely) benign	1 lab	afbd85429d
12:33049417 PKP2 G>T	12	33049417	33049417	G	T	PKP2	c.223+26C>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.33049417G>T	(Likely) benign	1 lab	afc7c91423
8:61654280 CHD7 G>A	8	61654280	61654280	G	A	CHD7	c.289G>A	NM_017780.4	NP_060250.2:p.(Gly97Arg)	NC_000008.10:g.61654280G>A	(Likely) benign	1 lab	afc9a7a2fd
8:10469030 RP1L1 G>A	8	10469030	10469030	G	A	RP1L1				NC_000008.10:g.10469030G>A	(Likely) benign	1 lab	afca6e182d
18:21119247 NPC1 G>A	18	21119247	21119247	G	A	NPC1	c.2911+72C>T	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21119247G>A	(Likely) benign	1 lab	ac6b22996a
8:61655489 CHD7 C>T	8	61655489	61655489	C	T	CHD7	c.1498C>T	NM_017780.3	NP_060250.2:p.(Gln500Ter)	NC_000008.10:g.61655489C>T	(Likely) pathogenic	1 lab	afd4ccaea4
X:53438944 SMC1A C>T	X	53438944	53438944	C	T	SMC1A	c.1113+1G>A	NM_006306.2	NP_006297.2:p.?	NC_000023.10:g.53438944C>T	(Likely) pathogenic	1 lab	afd5626ff2
2:165994464 SCN3A T>C	2	165994464	165994464	T	C	SCN3A	c.2316A>G	NM_006922.3	NP_008853.3:p.(Leu772=)	NC_000002.11:g.165994464T>C	(Likely) benign	1 lab	afdb8c653d
2:165947159 SCN3A A>G	2	165947159	165947159	A	G	SCN3A	c.5504T>C	NM_006922.3	NP_008853.3:p.(Ile1835Thr)	NC_000002.11:g.165947159A>G	VUS	1 lab	afe0c9356e
2:179514290 TTN C>A	2	179514290	179514290	C	A	TTN	c.39964G>T	NM_001267550.2	NP_001254479.2:p.(Ala13322Ser)	NC_000002.11:g.179514290C>A	(Likely) benign	1 lab	afe48e6905
3:46729757 ALS2CL C>G	3	46729757	46729757	C	G	ALS2CL	c.133G>C	NM_147129.3	NP_667340.2:p.(Glu45Gln)	NC_000003.11:g.46729757C>G	(Likely) benign	1 lab	afe99cb082
7:111555943 DOCK4 T>C	7	111555943	111555943	T	C	DOCK4	c.1083A>G	NM_014705.4	NP_055520.3:p.(Leu361=)	NC_000007.13:g.111555943T>C	(Likely) benign	1 lab	11260ca379
8:75262805 GDAP1 T>A	8	75262805	75262805	T	A	GDAP1	c.109T>A	NM_018972.2	NP_061845.2:p.(Ser37Thr)	NC_000008.10:g.75262805T>A	VUS	1 lab	afea51b7e8
2:179414035 TTN C>T	2	179414035	179414035	C	T	TTN	c.92318G>A	NM_001267550.2	NP_001254479.2:p.(Arg30773Gln)	NC_000002.11:g.179414035C>T	VUS	1 lab	afeb7d236f
14:68228266 ZFYVE26 C>T	14	68228266	68228266	C	T	ZFYVE26	c.6405G>A	NM_015346.3	NP_056161.2:p.(Leu2135=)	NC_000014.8:g.68228266C>T	(Likely) benign	1 lab	afedda4565
12:80935345 MISSING T>C	12	80935345	80935345	T	C	MISSING				NC_000012.11:g.80935345T>C	(Likely) benign	1 lab	afee5b12b2
16:89590451 SPG7 C>G	16	89590451	89590451	C	G	SPG7	c.414C>G	NM_003119.4	NP_003110.1:p.(Tyr138Ter)	NC_000016.9:g.89590451C>G	(Likely) pathogenic	1 lab	afefc2ade8
16:2168254 PKD1 G>A	16	2168254	2168254	G	A	PKD1	c.739C>T	NM_001009944.2	NP_001009944.2:p.(Leu247Phe)	NC_000016.9:g.2168254G>A	(Likely) benign	1 lab	11263b9bc0
X:85233897 CHM T>C	X	85233897	85233897	T	C	CHM	c.190-2A>G	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85233897T>C	(Likely) pathogenic	1 lab	aff0bf6987
2:166020953 SCN3A G>A	2	166020953	166020953	G	A	SCN3A	c.551C>T	NM_006922.3	NP_008853.3:p.(Thr184Met)	NC_000002.11:g.166020953G>A	VUS	1 lab	aff356a6aa
15:66996259 SMAD6 G>A	15	66996259	66996259	G	A	SMAD6	c.663G>A	NM_005585.4	NP_005576.3:p.(Pro221=)	NC_000015.9:g.66996259G>A	(Likely) benign	1 lab	aff3da4928
1:43392795 SLC2A1 C>T	1	43392795	43392795	C	T	SLC2A1	c.1396G>A	NM_006516.2	NP_006507.2:p.(Gly466Ser)	NC_000001.10:g.43392795C>T	(Likely) benign	1 lab	aff6a77f05
11:47354759 MYBPC3 C>T	11	47354759	47354759	C	T	MYBPC3	c.3316G>A	NM_000256.3	NP_000247.2:p.(Asp1106Asn)	NC_000011.9:g.47354759C>T	VUS	1 lab	affe4c2ae3
20:33570359 MYH7B G>GT	20	33570359	33570360	G	GT	MYH7B	c.750+2dup	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33570360dup	VUS	1 lab	affe934478
11:121058543 TECTA G>T	11	121058543	121058543	G	T	TECTA				NC_000011.9:g.121058543G>T	(Likely) pathogenic	1 lab	b000212503
20:33586326 MYH7B G>A	20	33586326	33586326	G	A	MYH7B	c.4013G>A	NM_020884.4	NP_065935.3:p.(Arg1338His)	NC_000020.10:g.33586326G>A	VUS	1 lab	b009d8b31c
20:62126282 EEF1A2 C>T	20	62126282	62126282	C	T	EEF1A2	c.497G>A	NM_001958.5	NP_001949.1:p.(Arg166His)	NC_000020.10:g.62126282C>T	(Likely) pathogenic	1 lab	b00bdb95ac
12:57317733 SDR9C7 G>A	12	57317733	57317733	G	A	SDR9C7	c.826C>T	NM_148897.3	NP_683695.1:p.(Arg276Cys)	NC_000012.11:g.57317733G>A	(Likely) pathogenic	1 lab	b00beb3f19
12:6181513 VWF G>A	12	6181513	6181513	G	A	VWF	c.1093C>T	NM_000552.3	NP_000543.2:p.(Arg365Ter)	NC_000012.11:g.6181513G>A	(Likely) pathogenic	1 lab	b00cad62b9
20:61981052 CHRNA4 C>T	20	61981052	61981052	C	T	CHRNA4	c.1711G>A	NM_000744.6	NP_000735.1:p.(Val571Ile)	NC_000020.10:g.61981052C>T	(Likely) benign	1 lab	b00d06f7df
X:38262916 OTC G>A	X	38262916	38262916	G	A	OTC	c.586G>A	NM_000531.5	NP_000522.3:p.(Asp196Asn)	NC_000023.10:g.38262916G>A	(Likely) pathogenic	1 lab	b00f1c7011
X:53231038 KDM5C A>C	X	53231038	53231038	A	C	KDM5C	c.1864T>G	NM_004187.5	NP_004178.2:p.(Trp622Gly)	NC_000023.10:g.53231038A>C	(Likely) pathogenic	1 lab	b00f3e1e57
13:110853814 COL4A1 G>A	13	110853814	110853814	G	A	COL4A1				NC_000013.10:g.110853814G>A	(Likely) benign	1 lab	b00f6a541b
X:39934036 BCOR C>T	X	39934036	39934036	C	T	BCOR				NC_000023.10:g.39934036C>T	VUS	1 lab	b010eecd51
11:71146696 DHCR7 C>T	11	71146696	71146696	C	T	DHCR7	c.1153G>A	NM_001360.3	NP_001351.2:p.(Ala385Thr)	NC_000011.9:g.71146696C>T	VUS	1 lab	b01112c18d
7:2958168 CARD11 C>T	7	2958168	2958168	C	T	CARD11	c.2564G>A	NM_032415.7	NP_115791.3:p.(Arg855Gln)	NC_000007.13:g.2958168C>T	VUS	1 lab	0c77f009fd
21:43795866 TMPRSS3 G>A	21	43795866	43795866	G	A	TMPRSS3	c.1306C>T	NM_024022.2	NP_076927.1:p.(Arg436Cys)	NC_000021.8:g.43795866G>A	(Likely) pathogenic	1 lab	b015d15a2b
3:47889728 DHX30 G>A	3	47889728	47889728	G	A	DHX30	c.2345G>A	NM_138615.2	NP_619520.1:p.(Arg782Gln)	NC_000003.11:g.47889728G>A	(Likely) pathogenic	1 lab	b01617d238
20:49509326 ADNP T>C	20	49509326	49509326	T	C	ADNP	c.1925A>G	NM_015339.2	NP_056154.1:p.(His642Arg)	NC_000020.10:g.49509326T>C	VUS	1 lab	b017a9142b
8:21905696 FGF17 A>C	8	21905696	21905696	A	C	FGF17	c.587A>C	NM_003867.3	NP_003858.1:p.(Glu196Ala)	NC_000008.10:g.21905696A>C	VUS	1 lab	b018de9816
7:128480708 FLNC C>T	7	128480708	128480708	C	T	FLNC	c.1656C>T	NM_001458.4	NP_001449.3:p.(Gly552=)	NC_000007.13:g.128480708C>T	(Likely) benign	1 lab	b019a66234
1:216246661 USH2A T>C	1	216246661	216246661	T	C	USH2A				NC_000001.10:g.216246661T>C	VUS	1 lab	b01cadf8c4
9:139412272 NOTCH1 G>A	9	139412272	139412272	G	A	NOTCH1	c.1373C>T	NM_017617.5	NP_060087.3:p.(Ser458Leu)	NC_000009.11:g.139412272G>A	VUS	1 lab	b0203ae2bd
16:3789726 CREBBP C>A	16	3789726	3789726	C	A	CREBBP	c.4134-1G>T	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3789726C>A	(Likely) pathogenic	1 lab	b025518f8a
2:179605069 TTN G>A	2	179605069	179605069	G	A	TTN	c.12891C>T	NM_001267550.2	NP_001254479.2:p.(Cys4297=)	NC_000002.11:g.179605069G>A	(Likely) benign	1 lab	b02ca62217
4:149356324 NR3C2 G>A	4	149356324	149356324	G	A	NR3C2	c.1689C>T	NM_000901.5	NP_000892.2:p.(His563=)	NC_000004.11:g.149356324G>A	(Likely) benign	1 lab	b0313198f6
2:224623445 AP1S3 T>C	2	224623445	224623445	T	C	AP1S3	c.452A>G	NM_001039569.2	NP_001034658.1:p.(Lys151Arg)	NC_000002.11:g.224623445T>C	VUS	1 lab	0c7a9f40de
16:89337223 ANKRD11 A>G	16	89337223	89337223	A	G	ANKRD11				NC_000016.9:g.89337223A>G	(Likely) pathogenic	1 lab	b0322f464f
2:47707846 MSH2 C>T	2	47707846	47707846	C	T	MSH2	c.2470C>T	NM_000251.2	NP_000242.1:p.(Gln824Ter)	NC_000002.11:g.47707846C>T	(Likely) pathogenic	1 lab	b035e3a8ce
6:32008241 CYP21A2 C>T	6	32008241	32008241	C	T	CYP21A2	c.998C>T	NM_000500.9	NP_000491.4:p.(Ser333Phe)	NC_000006.11:g.32008241C>T	VUS	1 lab	b03861e7e0
2:227924262 COL4A4 C>T	2	227924262	227924262	C	T	COL4A4	c.2242G>A	NM_000092.4	NP_000083.3:p.(Gly748Ser)	NC_000002.11:g.227924262C>T	(Likely) pathogenic	1 lab	112941a320
4:187126393 CYP4V2 T>G	4	187126393	187126393	T	G	CYP4V2	c.1027T>G	NM_207352.4	NP_997235.3:p.(Tyr343Asp)	NC_000004.11:g.187126393T>G	(Likely) pathogenic	1 lab	b04358d220
12:32945405 PKP2 A>G	12	32945405	32945405	A	G	PKP2	c.2599T>C	NM_004572.4	NP_004563.2:p.(Phe867Leu)	NC_000012.11:g.32945405A>G	VUS	1 lab	b0442b92c0
11:17417206 ABCC8 G>A	11	17417206	17417206	G	A	ABCC8	c.4258C>T	NM_001351296.1	NP_001338225.1:p.(Arg1420Cys)	NC_000011.9:g.17417206G>A	(Likely) pathogenic	1 lab	b04514e02c
13:20763282 GJB2 C>T	13	20763282	20763282	C	T	GJB2	c.439G>A	NM_004004.5	NP_003995.2:p.(Glu147Lys)	NC_000013.10:g.20763282C>T	(Likely) pathogenic	1 lab	b048f65049
20:18491542 SEC23B G>A	20	18491542	18491542	G	A	SEC23B	c.63G>A	NM_032985.4	NP_116780.1:p.(Trp21Ter)	NC_000020.10:g.18491542G>A	(Likely) pathogenic	1 lab	b04941d1c8
21:46900714 COL18A1 C>A	21	46900714	46900714	C	A	COL18A1	c.1553C>A	NM_001379500.1	NP_001366429.1:p.(Pro518His)	NC_000021.8:g.46900714C>A	VUS	1 lab	0c81a4285d
1:186283422 TPR C>T	1	186283422	186283422	C	T	TPR				NC_000001.10:g.186283422C>T	(Likely) benign	1 lab	b04c0ea5bc
7:72865213 BAZ1B C>T	7	72865213	72865213	C	T	BAZ1B	c.3544G>A	NM_032408.4	NP_115784.1:p.(Ala1182Thr)	NC_000007.13:g.72865213C>T	VUS	1 lab	0c81d953c6
10:89685287 PTEN A>G	10	89685287	89685287	A	G	PTEN	c.182A>G	NM_000314.8	NP_000305.3:p.(His61Arg)	NC_000010.10:g.89685287A>G	(Likely) pathogenic	1 lab	b0529bffef
19:46269739 SIX5 G>A	19	46269739	46269739	G	A	SIX5	c.1478C>T	NM_175875.4	NP_787071.2:p.(Pro493Leu)	NC_000019.9:g.46269739G>A	(Likely) benign	1 lab	b055449953
11:120996492 TECTA C>T	11	120996492	120996492	C	T	TECTA				NC_000011.9:g.120996492C>T	(Likely) benign	1 lab	b05741c552
5:138163338 CTNNA1 G>A	5	138163338	138163338	G	A	CTNNA1	c.993G>A	NM_001903.3	NP_001894.2:p.(Glu331=)	NC_000005.9:g.138163338G>A	(Likely) benign	1 lab	b05c41e53b
13:111121578 COL4A2 C>T	13	111121578	111121578	C	T	COL4A2	c.2110C>T	NM_001846.2	NP_001837.2:p.(Arg704Ter)	NC_000013.10:g.111121578C>T	VUS	1 lab	b05d2b0ef5
6:56330953 DST C>T	6	56330953	56330953	C	T	DST	c.22610G>A	NM_001374736.1	NP_001361665.1:p.(Arg7537Gln)	NC_000006.11:g.56330953C>T	VUS	1 lab	0c88501c9a
2:210783335 UNC80 G>A	2	210783335	210783335	G	A	UNC80	c.5093G>A	NM_032504.1	NP_115893.1:p.(Trp1698Ter)	NC_000002.11:g.210783335G>A	(Likely) pathogenic	1 lab	b0636aed3a
11:65635911 EFEMP2 G>A	11	65635911	65635911	G	A	EFEMP2	c.848-19C>T	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65635911G>A	(Likely) benign	1 lab	b06632a281
20:62065223 KCNQ2 G>C	20	62065223	62065223	G	C	KCNQ2	c.1057C>G	NM_172107.3	NP_742105.1:p.(Arg353Gly)	NC_000020.10:g.62065223G>C	VUS	1 lab	b068afd65c
2:136873083 CXCR4 C>T	2	136873083	136873083	C	T	CXCR4	c.415G>A	NM_003467.3	NP_003458.1:p.(Val139Ile)	NC_000002.11:g.136873083C>T	VUS	1 lab	0c89033f27
10:43608379 RET A>C	10	43608379	43608379	A	C	RET	c.1727A>C	NM_020975.6	NP_066124.1:p.(Gln576Pro)	NC_000010.10:g.43608379A>C	VUS	1 lab	0c894b4547
7:35289685 TBX20 G>T	7	35289685	35289685	G	T	TBX20	c.258C>A	NM_001077653.2	NP_001071121.1:p.(Ile86=)	NC_000007.13:g.35289685G>T	(Likely) benign	1 lab	0c8bbbe303
3:167508241 SERPINI1 C>T	3	167508241	167508241	C	T	SERPINI1	c.332C>T	NM_005025.5	NP_005016.1:p.(Ser111Phe)	NC_000003.11:g.167508241C>T	(Likely) benign	1 lab	0c8c72bdea
22:33733777 LARGE1 C>T	22	33733777	33733777	C	T	LARGE1				NC_000022.10:g.33733777C>T	(Likely) pathogenic	1 lab	b0728e86b0
10:88466405 LDB3 A>T	10	88466405	88466405	A	T	LDB3	c.1014A>T	NM_007078.2	NP_009009.1:p.(Thr338=)	NC_000010.10:g.88466405A>T	VUS	1 lab	b07484ba07
13:20763246 GJB2 C>T	13	20763246	20763246	C	T	GJB2	c.475G>A	NM_004004.5	NP_003995.2:p.(Asp159Asn)	NC_000013.10:g.20763246C>T	VUS	1 lab	b074bfc81b
4:108866582 CYP2U1 A>T	4	108866582	108866582	A	T	CYP2U1	c.947A>T	NM_183075.2	NP_898898.1:p.(Asp316Val)	NC_000004.11:g.108866582A>T	(Likely) pathogenic	1 lab	b07695766d
17:62022814 SCN4A C>A	17	62022814	62022814	C	A	SCN4A	c.3626G>T	NM_000334.4	NP_000325.4:p.(Cys1209Phe)	NC_000017.10:g.62022814C>A	VUS	1 lab	b079bfeaf8
4:650660 PDE6B C>A	4	650660	650660	C	A	PDE6B	c.1108-3C>A	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.650660C>A	VUS	1 lab	b07d920d34
1:153791302 GATAD2B G>A	1	153791302	153791302	G	A	GATAD2B	c.562C>T	NM_020699.2	NP_065750.1:p.(Gln188Ter)	NC_000001.10:g.153791302G>A	(Likely) pathogenic	1 lab	b07e031b4a
17:79495900 FSCN2 G>A	17	79495900	79495900	G	A	FSCN2	c.343G>A	NM_001077182.2	NP_001070650.1:p.(Glu115Lys)	NC_000017.10:g.79495900G>A	VUS	1 lab	b07e69cbc9
2:179599611 TTN T>A	2	179599611	179599611	T	A	TTN	c.15040A>T	NM_001267550.2	NP_001254479.2:p.(Thr5014Ser)	NC_000002.11:g.179599611T>A	(Likely) benign	1 lab	b0806ff91f
10:102776181 PDZD7 C>G	10	102776181	102776181	C	G	PDZD7	c.1526G>C	NM_001195263.1	NP_001182192.1:p.(Gly509Ala)	NC_000010.10:g.102776181C>G	VUS	1 lab	b080b25b5d
17:39919454 JUP C>T	17	39919454	39919454	C	T	JUP	c.1278G>A	NM_002230.3	NP_002221.1:p.(Lys426=)	NC_000017.10:g.39919454C>T	(Likely) benign	1 lab	b080bff908
1:228465455 OBSCN G>C	1	228465455	228465455	G	C	OBSCN	c.8042G>C	NM_001271223.2	NP_001258152.2:p.(Gly2681Ala)	NC_000001.10:g.228465455G>C	VUS	1 lab	b084502d59
8:61769115 CHD7 C>T	8	61769115	61769115	C	T	CHD7	c.7276C>T	NM_017780.3	NP_060250.2:p.(Gln2426Ter)	NC_000008.10:g.61769115C>T	(Likely) pathogenic	1 lab	b086f20599
11:108190708 ATM T>A	11	108190708	108190708	T	A	ATM	c.6375T>A	NM_000051.3	NP_000042.3:p.(His2125Gln)	NC_000011.9:g.108190708T>A	VUS	1 lab	b087fe37e3
11:66454571 SPTBN2 C>T	11	66454571	66454571	C	T	SPTBN2	c.6790G>A	NM_006946.4	NP_008877.2:p.(Ala2264Thr)	NC_000011.9:g.66454571C>T	(Likely) benign	1 lab	b088d27a53
3:48618019 COL7A1 G>A	3	48618019	48618019	G	A	COL7A1	c.5047C>T	NM_000094.3	NP_000085.1:p.(Arg1683Ter)	NC_000003.11:g.48618019G>A	(Likely) pathogenic	1 lab	b08b8cf348
11:76912633 MYO7A G>A	11	76912633	76912633	G	A	MYO7A	c.4993G>A	NM_000260.3	NP_000251.3:p.(Asp1665Asn)	NC_000011.9:g.76912633G>A	VUS	1 lab	b08bfc6915
X:24024777 KLHL15 TGGAG>T	X	24024777	24024782	TGGAG	T	KLHL15	c.30_33del	NM_030624.2	NP_085127.2:p.(Ile12ThrfsTer52)	NC_000023.10:g.24024779_24024782del	(Likely) pathogenic	1 lab	b08d1ccbce
10:121436496 BAG3 G>GAT	10	121436496	121436497	G	GAT	BAG3	c.1430_1431insAT	NM_004281.4	NP_004272.2:p.(Gln478PhefsTer89)	NC_000010.10:g.121436496_121436497insAT	(Likely) pathogenic	1 lab	0c9090f175
17:62036630 SCN4A G>C	17	62036630	62036630	G	C	SCN4A	c.2014C>G	NM_000334.4	NP_000325.4:p.(Arg672Gly)	NC_000017.10:g.62036630G>C	(Likely) pathogenic	1 lab	b090b9fe43
X:49074961 CACNA1F G>A	X	49074961	49074961	G	A	CACNA1F	c.2914C>T	NM_005183.4	NP_005174.2:p.(Arg972Ter)	NC_000023.10:g.49074961G>A	(Likely) pathogenic	1 lab	b093f8849a
19:49969006 ALDH16A1 C>G	19	49969006	49969006	C	G	ALDH16A1	c.1580C>G	NM_153329.3	NP_699160.2:p.(Pro527Arg)	NC_000019.9:g.49969006C>G	VUS	1 lab	b0948bfc8f
11:36596374 RAG1 G>A	11	36596374	36596374	G	A	RAG1	c.1520G>A	NM_000448.2	NP_000439.1:p.(Arg507Gln)	NC_000011.9:g.36596374G>A	VUS	1 lab	b094d9757a
17:41245029 BRCA1 CTG>C	17	41245029	41245033	CTG	C	BRCA1	c.2517_2518del	NM_007294.4	NP_009225.1:p.(His839GlnfsTer12)	NC_000017.10:g.41245032_41245033del	(Likely) pathogenic	1 lab	b095a2d167
3:121980486 CASR G>A	3	121980486	121980486	G	A	CASR	c.604G>A	NM_000388.4	NP_000379.3:p.(Glu202Lys)	NC_000003.11:g.121980486G>A	VUS	1 lab	b095ceaac4
6:10626689 GCNT2 A>T	6	10626689	10626689	A	T	GCNT2				NC_000006.11:g.10626689A>T	VUS	1 lab	b095d59742
14:68193713 RDH12 C>T	14	68193713	68193713	C	T	RDH12				NC_000014.8:g.68193713C>T	(Likely) pathogenic	1 lab	b0965c9bec
2:179528384 TTN G>C	2	179528384	179528384	G	C	TTN	c.36502C>G	NM_001267550.2	NP_001254479.2:p.(Pro12168Ala)	NC_000002.11:g.179528384G>C	VUS	1 lab	0c9162b391
16:2162361 PKD1 A>G	16	2162361	2162361	A	G	PKD1	c.3275T>C	NM_001009944.2	NP_001009944.2:p.(Met1092Thr)	NC_000016.9:g.2162361A>G	(Likely) benign	1 lab	b09d7a1e67
21:34707836 IFNAR1 A>G	21	34707836	34707836	A	G	IFNAR1	c.83A>G	NM_000629.3	NP_000620.2:p.(Lys28Arg)	NC_000021.8:g.34707836A>G	(Likely) benign	1 lab	112ab647ab
X:21871589 MBTPS2 C>G	X	21871589	21871589	C	G	MBTPS2	c.638C>G	NM_015884.4	NP_056968.1:p.(Ser213Trp)	NC_000023.10:g.21871589C>G	(Likely) pathogenic	1 lab	b09f9170c0
1:197069873 ASPM CTG>C	1	197069873	197069878	CTG	C	ASPM	c.8506_8507del	NM_018136.4	NP_060606.3:p.(Gln2836GlufsTer35)	NC_000001.10:g.197069877_197069878del	(Likely) pathogenic	1 lab	b0a1d37f5e
9:101235579 GABBR2 C>A	9	101235579	101235579	C	A	GABBR2	c.848G>T	NM_005458.8	NP_005449.5:p.(Gly283Val)	NC_000009.11:g.101235579C>A	VUS	1 lab	b0a29f416f
1:158651382 SPTA1 G>A	1	158651382	158651382	G	A	SPTA1	c.466C>T	NM_003126.4	NP_003117.2:p.(Arg156Trp)	NC_000001.10:g.158651382G>A	VUS	1 lab	0c96dc931f
19:11106600 SMARCA4 C>T	19	11106600	11106600	C	T	SMARCA4	c.1594-289C>T	NM_001128844.3	NP_001122316.1:p.?	NC_000019.9:g.11106600C>T	(Likely) benign	1 lab	0c97012058
16:68863597 CDH1 G>A	16	68863597	68863597	G	A	CDH1	c.2336G>A	NM_004360.3	NP_004351.1:p.(Arg779Gln)	NC_000016.9:g.68863597G>A	VUS	1 lab	b0acbeabac
X:53409235 SMC1A C>T	X	53409235	53409235	C	T	SMC1A	c.3355G>A	NM_006306.2	NP_006297.2:p.(Gly1119Arg)	NC_000023.10:g.53409235C>T	(Likely) pathogenic	1 lab	b0ada95ad8
11:121028845 TECTA G>A	11	121028845	121028845	G	A	TECTA				NC_000011.9:g.121028845G>A	(Likely) pathogenic	1 lab	b0ae1289c2
12:116457045 MED13L T>C	12	116457045	116457045	T	C	MED13L	c.993A>G	NM_015335.4	NP_056150.1:p.(Pro331=)	NC_000012.11:g.116457045T>C	(Likely) benign	1 lab	b0ae5e647c
1:94544909 ABCA4 T>A	1	94544909	94544909	T	A	ABCA4	c.1208A>T	NM_000350.3	NP_000341.2:p.(Asp403Val)	NC_000001.10:g.94544909T>A	VUS	1 lab	b0af408c0d
12:88443077 CEP290 C>A	12	88443077	88443077	C	A	CEP290	c.7324G>T	NM_025114.3	NP_079390.3:p.(Glu2442Ter)	NC_000012.11:g.88443077C>A	(Likely) pathogenic	1 lab	b0b6648879
7:150645539 KCNH2 C>A	7	150645539	150645539	C	A	KCNH2	c.2685G>T	NM_000238.3	NP_000229.1:p.(Thr895=)	NC_000007.13:g.150645539C>A	(Likely) benign	1 lab	b0b6bc59ca
5:112175216 APC G>GA	5	112175216	112175220	G	GA	APC	c.3929dup	NM_000038.6	NP_000029.2:p.(Ile1311AspfsTer4)	NC_000005.9:g.112175220dup	(Likely) pathogenic	1 lab	b0b8d80e5a
2:179589023 TTN C>T	2	179589023	179589023	C	T	TTN	c.21079G>A	NM_001267550.2	NP_001254479.2:p.(Gly7027Arg)	NC_000002.11:g.179589023C>T	VUS	1 lab	b0be0d7fc9
6:109699178 CD164 T>C	6	109699178	109699178	T	C	CD164	c.260-4A>G	NM_006016.6	NP_006007.2:p.?	NC_000006.11:g.109699178T>C	(Likely) benign	1 lab	b0c22a6cc9
10:112540903 RBM20 G>A	10	112540903	112540903	G	A	RBM20	c.536G>A	NM_001134363.3	NP_001127835.2:p.(Gly179Asp)	NC_000010.10:g.112540903G>A	(Likely) benign	1 lab	b0c343ebd3
3:37053355 MLH1 T>C	3	37053355	37053355	T	C	MLH1	c.588+2T>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053355T>C	(Likely) pathogenic	1 lab	b0c362eab9
X:13786874 OFD1 A>T	X	13786874	13786874	A	T	OFD1	c.2966A>T	NM_003611.2	NP_003602.1:p.(Asp989Val)	NC_000023.10:g.13786874A>T	VUS	1 lab	b0c4114e50
1:241663797 FH T>C	1	241663797	241663797	T	C	FH	c.1330A>G	NM_000143.3	NP_000134.2:p.(Arg444Gly)	NC_000001.10:g.241663797T>C	VUS	1 lab	b0c5b37913
3:193360795 OPA1 G>A	3	193360795	193360795	G	A	OPA1	c.1262G>A	NM_130837.2	NP_570850.2:p.(Arg421Gln)	NC_000003.11:g.193360795G>A	(Likely) pathogenic	1 lab	b0c6c92e54
12:32945107 PKP2 G>C	12	32945107	32945107	G	C	PKP2	c.*251C>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945107G>C	(Likely) benign	1 lab	b0d0294937
2:25469959 DNMT3A CTTG>C	2	25469959	25469966	CTTG	C	DNMT3A	c.1080_1082del	NM_022552.5	NP_072046.2:p.(Asn360del)	NC_000002.11:g.25469964_25469966del	(Likely) pathogenic	1 lab	b0d24a5fab
5:1076361 SLC12A7 C>T	5	1076361	1076361	C	T	SLC12A7	c.1749-10G>A	NM_006598.2	NP_006589.2:p.?	NC_000005.9:g.1076361C>T	(Likely) benign	1 lab	b0d87dcae2
12:2716143 CACNA1C C>G	12	2716143	2716143	C	G	CACNA1C	c.3210-7C>G	NM_000719.6	NP_000710.5:p.?	NC_000012.11:g.2716143C>G	(Likely) benign	1 lab	b0d98235c9
8:41798899 KAT6A T>C	8	41798899	41798899	T	C	KAT6A	c.2500A>G	NM_006766.5	NP_006757.2:p.(Lys834Glu)	NC_000008.10:g.41798899T>C	VUS	1 lab	b0db66f489
12:6138539 VWF C>T	12	6138539	6138539	C	T	VWF	c.2936G>A	NM_000552.5	NP_000543.3:p.(Ser979Asn)	NC_000012.11:g.6138539C>T	(Likely) pathogenic	1 lab	b0e22dd2df
3:121976154 CASR A>C	3	121976154	121976154	A	C	CASR	c.412A>C	NM_000388.4	NP_000379.3:p.(Thr138Pro)	NC_000003.11:g.121976154A>C	(Likely) pathogenic	1 lab	b0e326a723
X:148049217 AFF2 G>A	X	148049217	148049217	G	A	AFF2	c.3262G>A	NM_002025.4	NP_002016.2:p.(Ala1088Thr)	NC_000023.10:g.148049217G>A	(Likely) pathogenic	1 lab	b0e48225a5
15:93487746 CHD2 G>A	15	93487746	93487746	G	A	CHD2	c.1153+1G>A	NM_001271.3	NP_001262.3:p.?	NC_000015.9:g.93487746G>A	(Likely) pathogenic	1 lab	b0e4a32e6a
20:3065358 AVP T>A	20	3065358	3065358	T	A	AVP	c.-38A>T	NM_000490.4	NP_000481.2:p.?	NC_000020.10:g.3065358T>A	(Likely) benign	1 lab	b0e90ffa53
2:228159641 COL4A3 C>T	2	228159641	228159641	C	T	COL4A3	c.3419-39C>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228159641C>T	(Likely) benign	1 lab	b0e98a0a1b
12:112915466 PTPN11 A>G	12	112915466	112915466	A	G	PTPN11	c.865A>G	NM_002834.3	NP_002825.3:p.(Arg289Gly)	NC_000012.11:g.112915466A>G	(Likely) pathogenic	1 lab	b0eccd44a7
X:138642903 F9 G>A	X	138642903	138642903	G	A	F9	c.727G>A	NM_000133.4	NP_000124.1:p.(Val243Ile)	NC_000023.10:g.138642903G>A	VUS	1 lab	b0ee06fb55
X:154091404 F8 G>C	X	154091404	154091404	G	C	F8	c.6528C>G	NM_000132.3	NP_000123.1:p.(Ser2176Arg)	NC_000023.10:g.154091404G>C	(Likely) pathogenic	1 lab	b0ee8a797e
1:68910276 RPE65 C>G	1	68910276	68910276	C	G	RPE65	c.433G>C	NM_000329.3	NP_000320.1:p.(Ala145Pro)	NC_000001.10:g.68910276C>G	(Likely) pathogenic	1 lab	b0f0f4fbba
9:77386641 TRPM6 G>A	9	77386641	77386641	G	A	TRPM6	c.3514C>T	NM_017662.4	NP_060132.3:p.(Arg1172Ter)	NC_000009.11:g.77386641G>A	(Likely) pathogenic	1 lab	b0f17aa452
12:57596324 LRP1 C>T	12	57596324	57596324	C	T	LRP1	c.10711+4C>T	NM_002332.2	NP_002323.2:p.?	NC_000012.11:g.57596324C>T	(Likely) benign	1 lab	b0f42d8876
1:196706098 CFH G>A	1	196706098	196706098	G	A	CFH	c.2558G>A	NM_000186.4	NP_000177.2:p.(Cys853Tyr)	NC_000001.10:g.196706098G>A	(Likely) pathogenic	1 lab	b0f5ec6f68
7:100192745 FBXO24 G>A	7	100192745	100192745	G	A	FBXO24	c.973G>A	NM_033506.3	NP_277041.1:p.(Glu325Lys)	NC_000007.13:g.100192745G>A	VUS	1 lab	0ca48c2f3b
2:189867789 COL3A1 G>A	2	189867789	189867789	G	A	COL3A1	c.2553+1G>A	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189867789G>A	(Likely) pathogenic	1 lab	b0f973128f
X:117540990 WDR44 G>A	X	117540990	117540990	G	A	WDR44	c.1533+1G>A	NM_019045.4	NP_061918.3:p.?	NC_000023.10:g.117540990G>A	VUS	1 lab	b0f9873add
10:55702463 PCDH15 T>C	10	55702463	55702463	T	C	PCDH15	c.3123-1728A>G	NM_033056.3	NP_149045.3:p.?	NC_000010.10:g.55702463T>C	(Likely) pathogenic	1 lab	b0fce7963b
10:73375363 CDH23 T>G	10	73375363	73375363	T	G	CDH23	c.935T>G	NM_022124.5	NP_071407.4:p.(Leu312Arg)	NC_000010.10:g.73375363T>G	VUS	1 lab	b10273fc7b
14:102467995 DYNC1H1 A>G	14	102467995	102467995	A	G	DYNC1H1				NC_000014.8:g.102467995A>G	(Likely) pathogenic	1 lab	b1029887ce
15:26866312 GABRB3 A>AT	15	26866312	26866321	A	AT	GABRB3	c.461+148dup	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26866321dup	(Likely) benign	1 lab	125904e74f
12:6128378 VWF C>T	12	6128378	6128378	C	T	VWF	c.4206G>A	NM_000552.3	NP_000543.2:p.(Gln1402=)	NC_000012.11:g.6128378C>T	(Likely) benign	1 lab	b102fd4016
9:139401900 NOTCH1 G>A	9	139401900	139401900	G	A	NOTCH1	c.3511-11C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139401900G>A	(Likely) benign	1 lab	b10312e6c2
2:228137793 COL4A3 G>A	2	228137793	228137793	G	A	COL4A3	c.1887G>A	NM_000091.5	NP_000082.2:p.(Thr629=)	NC_000002.11:g.228137793G>A	(Likely) benign	1 lab	b104f0fae1
17:42988682 GFAP T>C	17	42988682	42988682	T	C	GFAP	c.1049A>G	NM_002055.5	NP_002046.1:p.(Gln350Arg)	NC_000017.10:g.42988682T>C	VUS	1 lab	b10a4a2d54
7:128487883 FLNC G>A	7	128487883	128487883	G	A	FLNC	c.4421G>A	NM_001458.5	NP_001449.3:p.(Arg1474Gln)	NC_000007.13:g.128487883G>A	(Likely) benign	1 lab	b10d3514c6
7:128478416 FLNC T>G	7	128478416	128478416	T	G	FLNC	c.1143T>G	NM_001458.5	NP_001449.3:p.(Arg381=)	NC_000007.13:g.128478416T>G	(Likely) benign	1 lab	b10e2de49f
10:89624008 PTEN C>G	10	89624008	89624008	C	G	PTEN	c.-219C>G	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624008C>G	(Likely) benign	1 lab	b1106f0011
X:62875581 ARHGEF9 G>A	X	62875581	62875581	G	A	ARHGEF9	c.1093C>T	NM_015185.2	NP_056000.1:p.(Arg365Cys)	NC_000023.10:g.62875581G>A	VUS	1 lab	b110d10fe8
2:228118910 COL4A3 A>G	2	228118910	228118910	A	G	COL4A3	c.828+20A>G	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228118910A>G	(Likely) benign	1 lab	b1119cf5f7
2:232952283 DIS3L2 G>A	2	232952283	232952283	G	A	DIS3L2	c.453G>A	NM_152383.4	NP_689596.4:p.(Pro151=)	NC_000002.11:g.232952283G>A	(Likely) benign	1 lab	b1120c6485
11:47359041 MYBPC3 GC>G	11	47359041	47359043	GC	G	MYBPC3	c.2502del	NM_000256.3	NP_000247.2:p.(Arg835AlafsTer2)	NC_000011.9:g.47359043del	(Likely) pathogenic	1 lab	b11515be92
1:196963355 CFHR5 T>G	1	196963355	196963355	T	G	CFHR5	c.576T>G	NM_030787.4	NP_110414.1:p.(Phe192Leu)	NC_000001.10:g.196963355T>G	VUS	1 lab	b115320088
1:155261637 PKLR G>A	1	155261637	155261637	G	A	PKLR	c.1528C>T	NM_000298.6	NP_000289.1:p.(Arg510Ter)	NC_000001.10:g.155261637G>A	(Likely) pathogenic	1 lab	b11611b04a
6:31916707 CFB C>T	6	31916707	31916707	C	T	CFB	c.1137C>T	NM_001710.6	NP_001701.2:p.(Arg379=)	NC_000006.11:g.31916707C>T	(Likely) benign	1 lab	b11b943176
19:50887645 POLD1 C>G	19	50887645	50887645	C	G	POLD1	c.-4C>G	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50887645C>G	VUS	1 lab	b120ac6a4f
X:41206189 DDX3X C>T	X	41206189	41206189	C	T	DDX3X	c.1693C>T	NM_001193416.3	NP_001180345.1:p.(Gln565Ter)	NC_000023.10:g.41206189C>T	(Likely) pathogenic	1 lab	b120f386e0
19:39001361 RYR1 C>T	19	39001361	39001361	C	T	RYR1	c.9062C>T	NM_000540.2	NP_000531.2:p.(Pro3021Leu)	NC_000019.9:g.39001361C>T	VUS	1 lab	b123f2bb97
2:152364593 NEB T>G	2	152364593	152364593	T	G	NEB	c.18274A>C	NM_004543.4	NP_004534.2:p.(Met6092Leu)	NC_000002.11:g.152364593T>G	VUS	1 lab	b12485bed5
1:23403839 KDM1A G>A	1	23403839	23403839	G	A	KDM1A	c.1853G>A	NM_001009999.3	NP_001009999.1:p.(Arg618His)	NC_000001.10:g.23403839G>A	VUS	1 lab	b127e2ef82
16:68867192 CDH1 G>A	16	68867192	68867192	G	A	CDH1	c.2440-1G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68867192G>A	(Likely) pathogenic	1 lab	b12b08cbde
6:30886628 VARS2 C>T	6	30886628	30886628	C	T	VARS2	c.1100C>T	NM_001167734.1	NP_001161206.1:p.(Thr367Ile)	NC_000006.11:g.30886628C>T	(Likely) pathogenic	1 lab	b12bd97a35
5:167645868 MISSING A>AC	5	167645868	167645871	A	AC	MISSING				NC_000005.9:g.167645871dup	VUS	1 lab	b14e9284ad
2:177036818 HOXD3 C>T	2	177036818	177036818	C	T	HOXD3	c.1115C>T	NM_006898.4	NP_008829.3:p.(Pro372Leu)	NC_000002.11:g.177036818C>T	VUS	1 lab	b12e2ab4ae
4:41748098 PHOX2B G>T	4	41748098	41748098	G	T	PHOX2B	c.671C>A	NM_003924.4	NP_003915.2:p.(Pro224Gln)	NC_000004.11:g.41748098G>T	VUS	1 lab	0ca6f07e94
16:10032200 GRIN2A G>A	16	10032200	10032200	G	A	GRIN2A	c.623C>T	NM_001134407.1	NP_001127879.1:p.(Thr208Ile)	NC_000016.9:g.10032200G>A	VUS	1 lab	b130588904
20:44525638 CTSA C>T	20	44525638	44525638	C	T	CTSA	c.1123C>T	NM_000308.4	NP_000299.3:p.(Arg375Ter)	NC_000020.10:g.44525638C>T	(Likely) pathogenic	1 lab	b1317ecf27
11:76900454 MYO7A G>A	11	76900454	76900454	G	A	MYO7A	c.3569G>A	NM_000260.3	NP_000251.3:p.(Arg1190Gln)	NC_000011.9:g.76900454G>A	VUS	1 lab	b1328b99c9
3:148894054 CP G>A	3	148894054	148894054	G	A	CP	c.3164C>T	NM_000096.4	NP_000087.2:p.(Thr1055Ile)	NC_000003.11:g.148894054G>A	VUS	1 lab	b1347fdc90
2:238283514 COL6A3 C>T	2	238283514	238283514	C	T	COL6A3	c.3220G>A	NM_004369.3	NP_004360.2:p.(Asp1074Asn)	NC_000002.11:g.238283514C>T	VUS	1 lab	b134a11663
1:1735941 GNB1 C>A	1	1735941	1735941	C	A	GNB1	c.347G>T	NM_002074.5	NP_002065.1:p.(Gly116Val)	NC_000001.10:g.1735941C>A	(Likely) pathogenic	1 lab	b13bbcba67
10:123247037 FGFR2 C>T	10	123247037	123247037	C	T	FGFR2	c.1987-99G>A	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123247037C>T	(Likely) benign	1 lab	b13bebfcc4
3:9489590 SETD5 C>CAGGAGAAAACAGGCCATTAACAGGGTCT	3	9489590	9489618	C	CAGGAGAAAACAGGCCATTAACAGGGTCT	SETD5	c.2004_2031dup	NM_001080517.2	NP_001073986.1:p.(Asp678ArgfsTer10)	NC_000003.11:g.9489591_9489618dup	(Likely) pathogenic	1 lab	b14447bbeb
20:33537864 GSS T>C	20	33537864	33537864	T	C	GSS	c.129+1663A>G	NM_000178.3	NP_000169.1:p.?	NC_000020.10:g.33537864T>C	(Likely) pathogenic	1 lab	b14bb90f38
1:201058531 CACNA1S C>T	1	201058531	201058531	C	T	CACNA1S	c.755G>A	NM_000069.2	NP_000060.2:p.(Arg252His)	NC_000001.10:g.201058531C>T	VUS	1 lab	b14c5c309f
8:38913137 ADAM9 GT>G	8	38913137	38913138	GT	G	ADAM9	c.1438del	NM_003816.2	NP_003807.1:p.(Cys480ValfsTer64)	NC_000008.10:g.38913138del	(Likely) pathogenic	1 lab	b14eb01dd7
18:31318470 ASXL3 G>T	18	31318470	31318470	G	T	ASXL3	c.1102G>T	NM_030632.1	NP_085135.1:p.(Glu368Ter)	NC_000018.9:g.31318470G>T	(Likely) pathogenic	1 lab	b14ff69c0c
16:1859432 HAGH G>C	16	1859432	1859432	G	C	HAGH	c.684-49C>G	NM_001040427.2	NP_001035517.1:p.?	NC_000016.9:g.1859432G>C	(Likely) benign	1 lab	0cb06166b2
15:67477135 SMAD3 T>G	15	67477135	67477135	T	G	SMAD3	c.942T>G	NM_005902.3	NP_005893.1:p.(Phe314Leu)	NC_000015.9:g.67477135T>G	(Likely) pathogenic	1 lab	b15515162d
2:215593563 BARD1 G>T	2	215593563	215593563	G	T	BARD1	c.2171C>A	NM_000465.4	NP_000456.2:p.(Ala724Glu)	NC_000002.11:g.215593563G>T	VUS	1 lab	0cb4af6afb
3:158369914 GFM1 CT>C	3	158369914	158369915	CT	C	GFM1	c.720del	NM_024996.5	NP_079272.4:p.(Glu241AsnfsTer2)	NC_000003.11:g.158369915del	(Likely) pathogenic	1 lab	b156c869e9
15:35085592 ACTC1 T>C	15	35085592	35085592	T	C	ACTC1	c.308A>G	NM_005159.5	NP_005150.1:p.(His103Arg)	NC_000015.9:g.35085592T>C	(Likely) pathogenic	1 lab	0cb58bf1db
7:143018485 CLCN1 A>G	7	143018485	143018485	A	G	CLCN1	c.461A>G	NM_000083.2	NP_000074.2:p.(Gln154Arg)	NC_000007.13:g.143018485A>G	(Likely) benign	1 lab	b1585a7cfc
2:47693946 MSH2 A>T	2	47693946	47693946	A	T	MSH2	c.1660A>T	NM_000251.3	NP_000242.1:p.(Ser554Cys)	NC_000002.11:g.47693946A>T	(Likely) pathogenic	1 lab	b15eef0832
20:47990801 KCNB1 C>T	20	47990801	47990801	C	T	KCNB1	c.1296G>A	NM_004975.4	NP_004966.1:p.(Arg432=)	NC_000020.10:g.47990801C>T	(Likely) benign	1 lab	112ffbdc0d
12:116421037 MED13L G>A	12	116421037	116421037	G	A	MED13L	c.4840C>T	NM_015335.4	NP_056150.1:p.(Gln1614Ter)	NC_000012.11:g.116421037G>A	(Likely) pathogenic	1 lab	b165701b55
11:108151790 ATM G>A	11	108151790	108151790	G	A	ATM	c.3471G>A	NM_000051.3	NP_000042.3:p.(Leu1157=)	NC_000011.9:g.108151790G>A	(Likely) benign	1 lab	b166386ef3
X:13738066 TRAPPC2 T>C	X	13738066	13738066	T	C	TRAPPC2	c.17A>G	NM_001011658.3	NP_001011658.1:p.(Tyr6Cys)	NC_000023.10:g.13738066T>C	VUS	1 lab	b16865fc9b
6:121768663 GJA1 A>C	6	121768663	121768663	A	C	GJA1	c.670A>C	NM_000165.4	NP_000156.1:p.(Asn224His)	NC_000006.11:g.121768663A>C	VUS	1 lab	b168831293
6:65767634 EYS G>A	6	65767634	65767634	G	A	EYS	c.2024-14C>T	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65767634G>A	(Likely) benign	1 lab	b168e6e7ec
X:153297718 MECP2 C>T	X	153297718	153297718	C	T	MECP2	c.317G>A	NM_004992.3	NP_004983.1:p.(Arg106Gln)	NC_000023.10:g.153297718C>T	(Likely) pathogenic	1 lab	b168f73e4a
2:227924312 COL4A4 C>T	2	227924312	227924312	C	T	COL4A4	c.2192G>A	NM_000092.5	NP_000083.3:p.(Gly731Asp)	NC_000002.11:g.227924312C>T	VUS	1 lab	b16b54a0cb
X:71549512 HDAC8 G>C	X	71549512	71549512	G	C	HDAC8	n.1466C>G	NR_051952.2		NC_000023.10:g.71549512G>C	(Likely) benign	1 lab	0cb646689a
6:152861131 SYNE1 T>C	6	152861131	152861131	T	C	SYNE1				NC_000006.11:g.152861131T>C	(Likely) benign	1 lab	b16e65a32d
10:8106050 GATA3 T>A	10	8106050	8106050	T	A	GATA3	c.873T>A	NM_001002295.1	NP_001002295.1:p.(Tyr291Ter)	NC_000010.10:g.8106050T>A	(Likely) pathogenic	1 lab	b16f5e15b7
9:6606778 GLDC A>G	9	6606778	6606778	A	G	GLDC	c.636-109T>C	NM_000170.2	NP_000161.2:p.?	NC_000009.11:g.6606778A>G	(Likely) benign	1 lab	11337b4bcf
17:7809314 CHD3 G>A	17	7809314	7809314	G	A	CHD3	c.4535+7G>A	NM_001005271.3	NP_001005271.2:p.?	NC_000017.10:g.7809314G>A	(Likely) benign	1 lab	0cb8ec8cfd
17:44249096 KANSL1 A>C	17	44249096	44249096	A	C	KANSL1	c.414T>G	NM_001193466.1	NP_001180395.1:p.(Leu138=)	NC_000017.10:g.44249096A>C	(Likely) benign	1 lab	b178043b2a
2:103124601 SLC9A4 A>G	2	103124601	103124601	A	G	SLC9A4	c.1262A>G	NM_001011552.3	NP_001011552.2:p.(Gln421Arg)	NC_000002.11:g.103124601A>G	VUS	1 lab	b179eca86a
16:31475890 ARMC5 G>T	16	31475890	31475890	G	T	ARMC5	c.1546G>T	NM_001105247.1	NP_001098717.1:p.(Glu516Ter)	NC_000016.9:g.31475890G>T	(Likely) pathogenic	1 lab	b179ed37aa
1:94520801 ABCA4 C>T	1	94520801	94520801	C	T	ABCA4	c.2453G>A	NM_000350.2	NP_000341.2:p.(Gly818Glu)	NC_000001.10:g.94520801C>T	VUS	1 lab	b17dd86374
2:26699822 OTOF G>A	2	26699822	26699822	G	A	OTOF	c.2613C>T	NM_194248.2	NP_919224.1:p.(Leu871=)	NC_000002.11:g.26699822G>A	(Likely) benign	1 lab	b17e63e402
1:237777936 RYR2 C>T	1	237777936	237777936	C	T	RYR2	c.5508C>T	NM_001035.3	NP_001026.2:p.(Asn1836=)	NC_000001.10:g.237777936C>T	(Likely) benign	1 lab	1134203e85
16:11650537 LITAF G>A	16	11650537	11650537	G	A	LITAF	c.50C>T	NM_004862.3	NP_004853.2:p.(Pro17Leu)	NC_000016.9:g.11650537G>A	VUS	1 lab	b18335412e
13:32914953 BRCA2 ATC>A	13	32914953	32914961	ATC	A	BRCA2	c.6468_6469del	NM_000059.4	NP_000050.3:p.(Gln2157IlefsTer18)	NC_000013.10:g.32914960_32914961del	(Likely) pathogenic	1 lab	0cc11a2eff
17:41251936 BRCA1 C>G	17	41251936	41251936	C	G	BRCA1	c.442-39G>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251936C>G	(Likely) benign	1 lab	b184ddb1e1
1:201333369 TNNT2 C>G	1	201333369	201333369	C	G	TNNT2	c.459+57G>C	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201333369C>G	(Likely) benign	1 lab	b185461b25
2:47639699 MSH2 G>C	2	47639699	47639699	G	C	MSH2	c.792G>C	NM_000251.2	NP_000242.1:p.(Gln264His)	NC_000002.11:g.47639699G>C	(Likely) pathogenic	1 lab	b185ea0328
18:29127271 DSG2 A>G	18	29127271	29127271	A	G	DSG2	c.*565A>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29127271A>G	(Likely) benign	1 lab	b1875f778c
22:19870839 TXNRD2 A>G	22	19870839	19870839	A	G	TXNRD2	c.1086+9T>C	NM_006440.5	NP_006431.2:p.?	NC_000022.10:g.19870839A>G	(Likely) benign	1 lab	0cc45a6e00
13:32945189 BRCA2 C>T	13	32945189	32945189	C	T	BRCA2	c.8584C>T	NM_000059.3	NP_000050.2:p.(Leu2862=)	NC_000013.10:g.32945189C>T	(Likely) benign	1 lab	b18b9e10fb
19:50713981 MYH14 C>T	19	50713981	50713981	C	T	MYH14	c.359C>T	NM_001145809.2	NP_001139281.1:p.(Ser120Leu)	NC_000019.9:g.50713981C>T	(Likely) pathogenic	1 lab	b18bd97051
19:3590120 GIPC3 G>A	19	3590120	3590120	G	A	GIPC3	c.871G>A	NM_133261.2	NP_573568.1:p.(Ala291Thr)	NC_000019.9:g.3590120G>A	VUS	1 lab	b18c40636f
1:103381186 COL11A1 C>T	1	103381186	103381186	C	T	COL11A1				NC_000001.10:g.103381186C>T	(Likely) pathogenic	1 lab	c07ec165ae
17:41244082 BRCA1 C>A	17	41244082	41244082	C	A	BRCA1	c.3466G>T	NM_007294.3	NP_009225.1:p.(Asp1156Tyr)	NC_000017.10:g.41244082C>A	VUS	1 lab	b18da0c6f0
6:32052363 TNXB G>T	6	32052363	32052363	G	T	TNXB	c.3272C>A	NM_019105.8	NP_061978.6:p.(Ser1091Tyr)	NC_000006.11:g.32052363G>T	(Likely) benign	1 lab	113a0d386b
22:51016360 CPT1B G>A	22	51016360	51016360	G	A	CPT1B	c.-16C>T	NM_004377.3	NP_004368.1:p.?	NC_000022.10:g.51016360G>A	(Likely) benign	1 lab	b1910a8542
11:26569007 ANO3 G>T	11	26569007	26569007	G	T	ANO3	c.1199G>T	NM_031418.4	NP_113606.2:p.(Gly400Val)	NC_000011.9:g.26569007G>T	(Likely) pathogenic	1 lab	b19152e3ff
14:51058328 ATL1 G>A	14	51058328	51058328	G	A	ATL1	c.493G>A	NM_015915.5	NP_056999.2:p.(Ala165Thr)	NC_000014.8:g.51058328G>A	(Likely) pathogenic	1 lab	b191a97e76
9:139390822 NOTCH1 G>C	9	139390822	139390822	G	C	NOTCH1	c.7369C>G	NM_017617.3	NP_060087.3:p.(Leu2457Val)	NC_000009.11:g.139390822G>C	VUS	1 lab	b192c00a98
1:94512605 ABCA4 A>T	1	94512605	94512605	A	T	ABCA4	c.2788T>A	NM_000350.2	NP_000341.2:p.(Cys930Ser)	NC_000001.10:g.94512605A>T	VUS	1 lab	b192fa509c
2:190426666 SLC40A1 C>T	2	190426666	190426666	C	T	SLC40A1	c.1654G>A	NM_014585.6	NP_055400.1:p.(Ala552Thr)	NC_000002.11:g.190426666C>T	(Likely) benign	1 lab	b196a8d981
7:120450658 TSPAN12 G>A	7	120450658	120450658	G	A	TSPAN12	c.361-34C>T	NM_012338.3	NP_036470.1:p.?	NC_000007.13:g.120450658G>A	(Likely) benign	1 lab	b198a40766
12:110230500 TRPV4 C>T	12	110230500	110230500	C	T	TRPV4	c.1781G>A	NM_021625.4	NP_067638.3:p.(Arg594His)	NC_000012.11:g.110230500C>T	(Likely) pathogenic	1 lab	b1999d684d
X:32407672 DMD C>A	X	32407672	32407672	C	A	DMD	c.4464G>T	NM_004006.2	NP_003997.1:p.(Leu1488Phe)	NC_000023.10:g.32407672C>A	VUS	1 lab	acad75b993
3:38835348 SCN10A G>A	3	38835348	38835348	G	A	SCN10A	c.154C>T	NM_006514.3	NP_006505.3:p.(Arg52Trp)	NC_000003.11:g.38835348G>A	VUS	1 lab	b19e74593d
5:176942182 DDX41 C>A	5	176942182	176942182	C	A	DDX41	c.644+5G>T	NM_016222.4	NP_057306.2:p.?	NC_000005.9:g.176942182C>A	(Likely) pathogenic	1 lab	b1a0051de3
2:152381699 NEB TC>T	2	152381699	152381701	TC	T	NEB	c.17146del	NM_004543.4	NP_004534.2:p.(Glu5716LysfsTer57)	NC_000002.11:g.152381701del	(Likely) pathogenic	1 lab	b1a029d8c9
16:89345822 ANKRD11 G>C	16	89345822	89345822	G	C	ANKRD11				NC_000016.9:g.89345822G>C	(Likely) benign	1 lab	c145cd5d07
2:111397410 BUB1 C>T	2	111397410	111397410	C	T	BUB1	c.2971G>A	NM_004336.4	NP_004327.1:p.(Val991Ile)	NC_000002.11:g.111397410C>T	VUS	1 lab	b1a315f465
19:49224120 RASIP1 C>T	19	49224120	49224120	C	T	RASIP1	c.2827G>A	NM_017805.3	NP_060275.2:p.(Asp943Asn)	NC_000019.9:g.49224120C>T	(Likely) benign	1 lab	0cc4db3697
7:83631376 SEMA3A T>C	7	83631376	83631376	T	C	SEMA3A	c.1361-14A>G	NM_006080.2	NP_006071.1:p.?	NC_000007.13:g.83631376T>C	(Likely) benign	1 lab	b1a7ef22f8
5:88119601 MEF2C C>T	5	88119601	88119601	C	T	MEF2C	c.5G>A	NM_002397.5	NP_002388.2:p.(Gly2Glu)	NC_000005.9:g.88119601C>T	(Likely) pathogenic	1 lab	b1a977e651
2:165984303 SCN3A T>G	2	165984303	165984303	T	G	SCN3A	c.3231A>C	NM_006922.3	NP_008853.3:p.(Gly1077=)	NC_000002.11:g.165984303T>G	(Likely) benign	1 lab	b1a9ffd0a2
10:112404373 RBM20 C>G	10	112404373	112404373	C	G	RBM20	c.161C>G	NM_001134363.2	NP_001127835.2:p.(Pro54Arg)	NC_000010.10:g.112404373C>G	(Likely) benign	1 lab	b1aa4ade91
5:112162917 APC CTT>C	5	112162917	112162919	CTT	C	APC	c.1522_1523del	NM_000038.6	NP_000029.2:p.(Leu508AspfsTer28)	NC_000005.9:g.112162918_112162919del	(Likely) pathogenic	1 lab	b1ace2b85e
6:123869751 TRDN G>T	6	123869751	123869751	G	T	TRDN	c.239C>A	NM_006073.3	NP_006064.2:p.(Ser80Tyr)	NC_000006.11:g.123869751G>T	VUS	1 lab	b1ad93e216
7:79840365 GNAI1 G>A	7	79840365	79840365	G	A	GNAI1	c.671G>A	NM_002069.6	NP_002060.4:p.(Cys224Tyr)	NC_000007.13:g.79840365G>A	(Likely) pathogenic	1 lab	b1af04295c
3:38797453 SCN10A C>T	3	38797453	38797453	C	T	SCN10A	c.1291-4G>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38797453C>T	(Likely) benign	1 lab	b1b04982bd
11:103128448 DYNC2H1 C>T	11	103128448	103128448	C	T	DYNC2H1	c.10594C>T	NM_001080463.1	NP_001073932.1:p.(Arg3532Ter)	NC_000011.9:g.103128448C>T	(Likely) pathogenic	1 lab	b1b06c6fc1
12:111351972 MYL2 A>AAG	12	111351972	111351973	A	AAG	MYL2	c.274+17_274+18insCT	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351972_111351973insAG	(Likely) benign	1 lab	b1b5d0bcca
9:131378235 SPTAN1 T>G	9	131378235	131378235	T	G	SPTAN1	c.5357+116T>G	NM_001130438.2	NP_001123910.1:p.?	NC_000009.11:g.131378235T>G	(Likely) benign	1 lab	113efe81cb
X:107920818 COL4A5 T>C	X	107920818	107920818	T	C	COL4A5	c.3897T>C	NM_033380.2	NP_203699.1:p.(Pro1299=)	NC_000023.10:g.107920818T>C	(Likely) benign	1 lab	b1b80bfe07
5:14716829 ANKH AAGG>A	5	14716829	14716834	AAGG	A	ANKH	c.1124_1126del	NM_054027.4	NP_473368.1:p.(Ser375del)	NC_000005.9:g.14716832_14716834del	(Likely) pathogenic	1 lab	b1b8d4efa5
15:99671492 SYNM A>G	15	99671492	99671492	A	G	SYNM	c.2927A>G	NM_145728.2	NP_663780.2:p.(Gln976Arg)	NC_000015.9:g.99671492A>G	(Likely) benign	1 lab	113f67ea73
1:215853504 USH2A T>G	1	215853504	215853504	T	G	USH2A	c.12281A>C	NM_206933.2	NP_996816.2:p.(Asn4094Thr)	NC_000001.10:g.215853504T>G	VUS	1 lab	b1bba5c16d
16:81973398 PLCG2 T>G	16	81973398	81973398	T	G	PLCG2	c.3314-99T>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81973398T>G	(Likely) benign	1 lab	11452df64f
7:151253998 PRKAG2 C>G	7	151253998	151253998	C	G	PRKAG2	c.*289G>C	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151253998C>G	(Likely) benign	1 lab	b1bca31523
15:85400955 ALPK3 A>G	15	85400955	85400955	A	G	ALPK3	c.3592A>G	NM_020778.4	NP_065829.3:p.(Thr1198Ala)	NC_000015.9:g.85400955A>G	(Likely) benign	1 lab	b1bee5d33c
12:80633112 OTOGL G>A	12	80633112	80633112	G	A	OTOGL	c.919-1G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80633112G>A	(Likely) pathogenic	1 lab	b1c06dde64
2:74135797 ACTG2 T>C	2	74135797	74135797	T	C	ACTG2	c.256-3T>C	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74135797T>C	(Likely) benign	1 lab	b1c1367dc0
4:120192676 USP53 A>G	4	120192676	120192676	A	G	USP53	c.1661A>G	NM_019050.2	NP_061923.2:p.(Asn554Ser)	NC_000004.11:g.120192676A>G	(Likely) benign	1 lab	b1c2598644
15:90174836 KIF7 G>A	15	90174836	90174836	G	A	KIF7	c.3001C>T	NM_198525.2	NP_940927.2:p.(Gln1001Ter)	NC_000015.9:g.90174836G>A	(Likely) pathogenic	1 lab	b1c3703d0c
16:75665725 KARS1 A>G	16	75665725	75665725	A	G	KARS1	c.1028T>C	NM_001130089.1	NP_001123561.1:p.(Val343Ala)	NC_000016.9:g.75665725A>G	VUS	1 lab	b1c44b8b4f
6:24825658 RIPOR2 T>C	6	24825658	24825658	T	C	RIPOR2	c.2729-2A>G	NM_014722.4	NP_055537.2:p.?	NC_000006.11:g.24825658T>C	VUS	1 lab	b1c6c06bf1
12:66786456 GRIP1 C>G	12	66786456	66786456	C	G	GRIP1	c.2113+1G>C	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66786456C>G	(Likely) pathogenic	1 lab	114534072e
17:12905574 ELAC2 T>A	17	12905574	12905574	T	A	ELAC2	c.1304+17A>T	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12905574T>A	(Likely) benign	1 lab	0cc520bdd1
3:123420343 MYLK C>T	3	123420343	123420343	C	T	MYLK	c.2404G>A	NM_053025.4	NP_444253.3:p.(Glu802Lys)	NC_000003.11:g.123420343C>T	VUS	1 lab	0cc5a243d2
2:179417260 TTN T>A	2	179417260	179417260	T	A	TTN	c.90367A>T	NM_001267550.2	NP_001254479.2:p.(Lys30123Ter)	NC_000002.11:g.179417260T>A	(Likely) pathogenic	1 lab	0cc71ebb49
16:4245693 SRL A>G	16	4245693	4245693	A	G	SRL	c.471T>C	NM_001098814.1	NP_001092284.1:p.(Arg157=)	NC_000016.9:g.4245693A>G	(Likely) benign	1 lab	b20402b526
10:26285512 MYO3A G>T	10	26285512	26285512	G	T	MYO3A	c.397G>T	NM_017433.5	NP_059129.3:p.(Glu133Ter)	NC_000010.10:g.26285512G>T	(Likely) pathogenic	1 lab	b1d03f1b29
1:156106369 LMNA G>A	1	156106369	156106369	G	A	LMNA	c.1380+142G>A	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156106369G>A	(Likely) benign	1 lab	b1d0a9e5f1
16:89845356 FANCA G>A	16	89845356	89845356	G	A	FANCA	c.1771C>T	NM_000135.3	NP_000126.2:p.(Arg591Ter)	NC_000016.9:g.89845356G>A	(Likely) pathogenic	1 lab	b1d146006c
2:165946774 SCN3A A>G	2	165946774	165946774	A	G	SCN3A	c.5889T>C	NM_006922.3	NP_008853.3:p.(Ser1963=)	NC_000002.11:g.165946774A>G	(Likely) benign	1 lab	b1d412a289
19:47425365 ARHGAP35 C>T	19	47425365	47425365	C	T	ARHGAP35	c.3433C>T	NM_004491.5	NP_004482.4:p.(Arg1145Ter)	NC_000019.9:g.47425365C>T	(Likely) pathogenic	1 lab	b1d65f8fa7
7:35293223 TBX20 G>T	7	35293223	35293223	G	T	TBX20	c.9C>A	NM_001077653.2	NP_001071121.1:p.(Phe3Leu)	NC_000007.13:g.35293223G>T	VUS	1 lab	b1d9cf7991
5:54522479 MCIDAS G>T	5	54522479	54522479	G	T	MCIDAS	c.234C>A	NM_001190787.1	NP_001177716.1:p.(Asp78Glu)	NC_000005.9:g.54522479G>T	VUS	1 lab	b1da84f6b3
4:15992831 PROM1 C>T	4	15992831	15992831	C	T	PROM1	c.1983+14G>A	NM_006017.2	NP_006008.1:p.?	NC_000004.11:g.15992831C>T	(Likely) benign	1 lab	b1df580c42
14:24619983 RNF31 G>A	14	24619983	24619983	G	A	RNF31	c.1374G>A	NM_017999.5	NP_060469.4:p.(Lys458=)	NC_000014.8:g.24619983G>A	(Likely) benign	1 lab	1145872761
16:23640673 PALB2 T>C	16	23640673	23640673	T	C	PALB2	c.2515-77A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640673T>C	(Likely) benign	1 lab	b1e36bb86d
16:15814164 MYH11 G>A	16	15814164	15814164	G	A	MYH11	c.4818C>T	NM_001040113.2	NP_001035202.1:p.(His1606=)	NC_000016.9:g.15814164G>A	(Likely) benign	1 lab	114749c866
10:99211969 ZDHHC16 C>A	10	99211969	99211969	C	A	ZDHHC16	c.366C>A	NM_032327.2	NP_115703.2:p.(Ser122Arg)	NC_000010.10:g.99211969C>A	VUS	1 lab	b1e948bcb0
X:53230752 KDM5C G>A	X	53230752	53230752	G	A	KDM5C	c.2041C>T	NM_004187.3	NP_004178.2:p.(Arg681Ter)	NC_000023.10:g.53230752G>A	(Likely) pathogenic	1 lab	b1ec54a627
2:26683777 OTOF G>A	2	26683777	26683777	G	A	OTOF	c.5655C>T	NM_194248.2	NP_919224.1:p.(Arg1885=)	NC_000002.11:g.26683777G>A	(Likely) benign	1 lab	b1f129119b
16:3778302 CREBBP C>CGCT	16	3778302	3778316	C	CGCT	CREBBP	c.6743_6745dup	NM_004380.3	NP_004371.2:p.(Gln2248dup)	NC_000016.9:g.3778314_3778316dup	VUS	1 lab	0cc9014989
22:51159549 MISSING ACTCACCGGCAAACCCCTGGACCCCAG>A	22	51159549	51159581	ACTCACCGGCAAACCCCTGGACCCCAG	A	MISSING				NC_000022.10:g.51159556_51159581del	(Likely) pathogenic	1 lab	b1f55c35d1
X:41604839 CASK A>C	X	41604839	41604839	A	C	CASK	c.294T>G	NM_003688.3	NP_003679.2:p.(Asp98Glu)	NC_000023.10:g.41604839A>C	VUS	1 lab	0cca19d75e
2:167108261 SCN9A A>G	2	167108261	167108261	A	G	SCN9A	c.3439+14T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167108261A>G	(Likely) benign	1 lab	b1fe3c993a
12:112888165 PTPN11 G>C	12	112888165	112888165	G	C	PTPN11	c.181G>C	NM_002834.3	NP_002825.3:p.(Asp61His)	NC_000012.11:g.112888165G>C	(Likely) pathogenic	1 lab	b2001da279
6:66063331 EYS A>T	6	66063331	66063331	A	T	EYS	c.1459+20T>A	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66063331A>T	(Likely) benign	1 lab	b204152f92
5:138857919 STING1 T>C	5	138857919	138857919	T	C	STING1	c.695A>G	NM_198282.3	NP_938023.1:p.(His232Arg)	NC_000005.9:g.138857919T>C	(Likely) benign	1 lab	b205039d7b
11:64519926 PYGM G>A	11	64519926	64519926	G	A	PYGM	c.1569C>T	NM_005609.4	NP_005600.1:p.(Leu523=)	NC_000011.9:g.64519926G>A	(Likely) benign	1 lab	114a09fd43
17:41246262 BRCA1 A>G	17	41246262	41246262	A	G	BRCA1	c.1286T>C	NM_007294.3	NP_009225.1:p.(Ile429Thr)	NC_000017.10:g.41246262A>G	(Likely) benign	1 lab	b20c04e200
11:108180945 ATM G>C	11	108180945	108180945	G	C	ATM	c.5821G>C	NM_000051.3	NP_000042.3:p.(Val1941Leu)	NC_000011.9:g.108180945G>C	VUS	1 lab	b20d832ecc
12:32996205 PKP2 GCG>ACA	12	32996205	32996207	GCG	ACA	PKP2	c.1419_1421delinsTGT	NM_004572.3	NP_004563.2:p.(Ala474Val)	NC_000012.11:g.32996205_32996207delinsACA	(Likely) benign	1 lab	b20e7dfc0c
11:113142520 NCAM1 C>T	11	113142520	113142520	C	T	NCAM1	c.2378C>T	NM_181351.4	NP_851996.2:p.(Thr793Met)	NC_000011.9:g.113142520C>T	(Likely) benign	1 lab	b21223b477
3:15499689 COLQ T>C	3	15499689	15499689	T	C	COLQ	c.954+4A>G	NM_005677.3	NP_005668.2:p.?	NC_000003.11:g.15499689T>C	VUS	1 lab	b21295a66e
15:43908184 STRC C>G	15	43908184	43908184	C	G	STRC	c.1580G>C	NM_153700.2	NP_714544.1:p.(Cys527Ser)	NC_000015.9:g.43908184C>G	VUS	1 lab	b216c68161
13:32954322 BRCA2 T>C	13	32954322	32954322	T	C	BRCA2	c.9256+40T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954322T>C	(Likely) benign	1 lab	b2185082b8
22:28193555 MN1 C>A	22	28193555	28193555	C	A	MN1	c.2977G>T	NM_002430.3	NP_002421.3:p.(Glu993Ter)	NC_000022.10:g.28193555C>A	VUS	1 lab	b21aa4d82a
11:47463220 RAPSN C>T	11	47463220	47463220	C	T	RAPSN				NC_000011.9:g.47463220C>T	(Likely) benign	1 lab	b21c6bf584
5:121413364 LOX G>A	5	121413364	121413364	G	A	LOX	c.317C>T	NM_002317.7	NP_002308.2:p.(Thr106Met)	NC_000005.9:g.121413364G>A	(Likely) benign	1 lab	114be890c0
12:18865792 PLCZ1 T>A	12	18865792	18865792	T	A	PLCZ1	c.698A>T	NM_033123.4	NP_149114.2:p.(His233Leu)	NC_000012.11:g.18865792T>A	(Likely) pathogenic	1 lab	b21e2b7fe6
11:19209827 CSRP3 C>T	11	19209827	19209827	C	T	CSRP3	c.137G>A	NM_003476.4	NP_003467.1:p.(Ser46Asn)	NC_000011.9:g.19209827C>T	(Likely) pathogenic	1 lab	b21ef67746
15:35083507 ACTC1 G>C	15	35083507	35083507	G	C	ACTC1	c.809-11C>G	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083507G>C	(Likely) benign	1 lab	b21f1b18a8
X:100611180 BTK A>C	X	100611180	100611180	A	C	BTK	c.1426T>G	NM_000061.2	NP_000052.1:p.(Tyr476Asp)	NC_000023.10:g.100611180A>C	(Likely) pathogenic	1 lab	114e02bbe4
9:140674166 EHMT1 C>G	9	140674166	140674166	C	G	EHMT1	c.2272C>G	NM_024757.5	NP_079033.4:p.(Leu758Val)	NC_000009.11:g.140674166C>G	VUS	1 lab	0cccf3bf5a
7:151292492 PRKAG2 T>C	7	151292492	151292492	T	C	PRKAG2	c.803A>G	NM_016203.3	NP_057287.2:p.(His268Arg)	NC_000007.13:g.151292492T>C	VUS	1 lab	b229527269
4:114277839 ANK2 G>A	4	114277839	114277839	G	A	ANK2	c.8065G>A	NM_001148.4	NP_001139.3:p.(Val2689Ile)	NC_000004.11:g.114277839G>A	(Likely) benign	1 lab	b22b47fc96
2:179430730 TTN T>C	2	179430730	179430730	T	C	TTN	c.80129A>G	NM_001267550.2	NP_001254479.2:p.(Asp26710Gly)	NC_000002.11:g.179430730T>C	VUS	1 lab	b22c083493
10:121437012 BAG3 G>C	10	121437012	121437012	G	C	BAG3	c.*218G>C	NM_004281.4	NP_004272.2:p.?	NC_000010.10:g.121437012G>C	(Likely) benign	1 lab	b22c862399
12:52099396 SCN8A G>T	12	52099396	52099396	G	T	SCN8A	c.1330G>T	NM_001330260.2	NP_001317189.1:p.(Glu444Ter)	NC_000012.11:g.52099396G>T	VUS	1 lab	b22d555587
2:179478605 TTN G>T	2	179478605	179478605	G	T	TTN	c.49405C>A	NM_001267550.2	NP_001254479.2:p.(Leu16469Ile)	NC_000002.11:g.179478605G>T	VUS	1 lab	b22f2d563c
5:137761247 KDM3B T>C	5	137761247	137761247	T	C	KDM3B	c.4387T>C	NM_016604.4	NP_057688.3:p.(Trp1463Arg)	NC_000005.9:g.137761247T>C	VUS	1 lab	b2316433a0
3:38891971 SCN11A C>T	3	38891971	38891971	C	T	SCN11A	c.4327+1G>A	NM_001349253.2	NP_001336182.1:p.?	NC_000003.11:g.38891971C>T	VUS	1 lab	b231e61be4
1:156109211 LMNA A>G	1	156109211	156109211	A	G	LMNA				NC_000001.10:g.156109211A>G	VUS	1 lab	b239845380
14:94776219 SERPINA6 C>T	14	94776219	94776219	C	T	SERPINA6	c.738G>A	NM_001756.4	NP_001747.3:p.(Ser246=)	NC_000014.8:g.94776219C>T	(Likely) benign	1 lab	0ccd7ddd62
1:245025823 HNRNPU G>A	1	245025823	245025823	G	A	HNRNPU	c.817C>T	NM_031844.2	NP_114032.2:p.(Gln273Ter)	NC_000001.10:g.245025823G>A	(Likely) pathogenic	1 lab	b23cacbe9b
17:78176193 CARD14 G>A	17	78176193	78176193	G	A	CARD14	c.2193G>A	NM_024110.4	NP_077015.2:p.(Ala731=)	NC_000017.10:g.78176193G>A	(Likely) benign	1 lab	114e27db7d
11:66288751 BBS1 C>T	11	66288751	66288751	C	T	BBS1	c.734C>T	NM_024649.5	NP_078925.3:p.(Pro245Leu)	NC_000011.9:g.66288751C>T	(Likely) benign	1 lab	1150e6ec7c
2:179639813 TTN T>G	2	179639813	179639813	T	G	TTN	c.6625A>C	NM_001267550.2	NP_001254479.2:p.(Lys2209Gln)	NC_000002.11:g.179639813T>G	VUS	1 lab	b23f4a7e03
9:75366773 TMC1 T>G	9	75366773	75366773	T	G	TMC1				NC_000009.11:g.75366773T>G	(Likely) benign	1 lab	b2405fb6f4
16:2153797 PKD1 TTGTA>T	16	2153797	2153801	TTGTA	T	PKD1	c.8257_8260del	NM_001009944.3	NP_001009944.3:p.(Tyr2753ThrfsTer2)	NC_000016.9:g.2153798_2153801del	(Likely) pathogenic	1 lab	b2408cf3e2
11:2415437 CD81 C>T	11	2415437	2415437	C	T	CD81	c.279+15C>T	NM_004356.3	NP_004347.1:p.?	NC_000011.9:g.2415437C>T	(Likely) benign	1 lab	1151bbad0e
X:13737985 TRAPPC2 C>T	X	13737985	13737985	C	T	TRAPPC2				NC_000023.10:g.13737985C>T	(Likely) pathogenic	1 lab	b2453293f0
20:62044859 KCNQ2 C>A	20	62044859	62044859	C	A	KCNQ2	c.1707G>T	NM_172107.3	NP_742105.1:p.(Glu569Asp)	NC_000020.10:g.62044859C>A	VUS	1 lab	b245dee30a
16:56920296 SLC12A3 C>G	16	56920296	56920296	C	G	SLC12A3	c.1946C>G	NM_000339.2	NP_000330.2:p.(Thr649Arg)	NC_000016.9:g.56920296C>G	(Likely) pathogenic	1 lab	b24a277286
11:108128329 ATM C>G	11	108128329	108128329	C	G	ATM	c.2372C>G	NM_000051.3	NP_000042.3:p.(Thr791Ser)	NC_000011.9:g.108128329C>G	(Likely) benign	1 lab	b24b099066
8:87680282 CNGB3 C>T	8	87680282	87680282	C	T	CNGB3				NC_000008.10:g.87680282C>T	(Likely) benign	1 lab	b252f6803e
7:21583026 DNAH11 C>T	7	21583026	21583026	C	T	DNAH11	c.163C>T	NM_001277115.2	NP_001264044.1:p.(Gln55Ter)	NC_000007.13:g.21583026C>T	(Likely) pathogenic	1 lab	b2556d4a3b
4:114279330 ANK2 G>A	4	114279330	114279330	G	A	ANK2	c.9556G>A	NM_001148.5	NP_001139.3:p.(Val3186Met)	NC_000004.11:g.114279330G>A	(Likely) benign	1 lab	b25834394f
10:112572383 RBM20 C>A	10	112572383	112572383	C	A	RBM20	c.2228C>A	NM_001134363.3	NP_001127835.2:p.(Pro743His)	NC_000010.10:g.112572383C>A	VUS	1 lab	b25d691c18
22:21347984 LZTR1 G>T	22	21347984	21347984	G	T	LZTR1	c.1294G>T	NM_006767.4	NP_006758.2:p.(Asp432Tyr)	NC_000022.10:g.21347984G>T	VUS	1 lab	b264fbbcdb
6:129674430 LAMA2 C>T	6	129674430	129674430	C	T	LAMA2	c.4645C>T	NM_000426.3	NP_000417.2:p.(Arg1549Ter)	NC_000006.11:g.129674430C>T	(Likely) pathogenic	1 lab	b26b327e47
1:8420030 RERE C>T	1	8420030	8420030	C	T	RERE	c.3412G>A	NM_012102.3	NP_036234.3:p.(Asp1138Asn)	NC_000001.10:g.8420030C>T	VUS	1 lab	b26fe1bfb6
10:112343591 SMC3 G>A	10	112343591	112343591	G	A	SMC3	c.970-8G>A	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112343591G>A	(Likely) benign	1 lab	b2704a9752
1:152278689 FLG C>A	1	152278689	152278689	C	A	FLG	c.8673G>T	NM_002016.1	NP_002007.1:p.(Val2891=)	NC_000001.10:g.152278689C>A	(Likely) benign	1 lab	b27186a4b8
5:172660517 NKX2-5 AAAAAATAAATAAAAAAAT>A	5	172660517	172660540	AAAAAATAAATAAAAAAAT	A	NKX2-5	c.335-323_335-306del	NM_004387.4	NP_004378.1:p.?	NC_000005.9:g.172660523_172660540del	(Likely) benign	1 lab	1157647be5
1:216495246 USH2A C>T	1	216495246	216495246	C	T	USH2A	c.1623G>A	NM_206933.2	NP_996816.2:p.(Glu541=)	NC_000001.10:g.216495246C>T	(Likely) benign	1 lab	b27abe2e23
2:179610899 TTN C>T	2	179610899	179610899	C	T	TTN	c.16228G>A	NM_133379.5	NP_596870.2:p.(Glu5410Lys)	NC_000002.11:g.179610899C>T	VUS	1 lab	0ccf490acb
2:216295478 FN1 G>C	2	216295478	216295478	G	C	FN1	c.645C>G	NM_212482.2	NP_997647.1:p.(Cys215Trp)	NC_000002.11:g.216295478G>C	VUS	1 lab	b27c04205a
11:108114845 ATM G>A	11	108114845	108114845	G	A	ATM	c.662G>A	NM_000051.3	NP_000042.3:p.(Arg221Lys)	NC_000011.9:g.108114845G>A	(Likely) pathogenic	1 lab	b28215d79e
5:112163706 APC A>T	5	112163706	112163706	A	T	APC	c.1626+3A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112163706A>T	VUS	1 lab	b286687aa1
4:55599333 KIT A>G	4	55599333	55599333	A	G	KIT				NC_000004.11:g.55599333A>G	(Likely) pathogenic	1 lab	b28a62841c
15:38643486 SPRED1 AAATT>A	15	38643486	38643492	AAATT	A	SPRED1	c.959_962del	NM_152594.3	NP_689807.1:p.(Ile320ArgfsTer85)	NC_000015.9:g.38643489_38643492del	(Likely) pathogenic	1 lab	b28e4355d8
2:179474468 TTN C>T	2	179474468	179474468	C	T	TTN	c.51682G>A	NM_001267550.2	NP_001254479.2:p.(Ala17228Thr)	NC_000002.11:g.179474468C>T	VUS	1 lab	0cd01dcee7
12:6127959 VWF T>C	12	6127959	6127959	T	C	VWF	c.4625A>G	NM_000552.3	NP_000543.2:p.(Tyr1542Cys)	NC_000012.11:g.6127959T>C	(Likely) pathogenic	1 lab	b28eb76259
7:107414364 SLC26A3 C>G	7	107414364	107414364	C	G	SLC26A3	c.2007+1G>C	NM_000111.2	NP_000102.1:p.?	NC_000007.13:g.107414364C>G	(Likely) pathogenic	1 lab	b28f8b90bb
14:105181007 INF2 G>A	14	105181007	105181007	G	A	INF2	c.3508G>A	NM_022489.3	NP_071934.3:p.(Gly1170Arg)	NC_000014.8:g.105181007G>A	(Likely) benign	1 lab	b290597e9b
X:32456610 DMD TAATCAATTTAAAGCAA>T	X	32456610	32456627	TAATCAATTTAAAGCAA	T	DMD	c.3922-119_3922-104del	NM_004006.2	NP_003997.1:p.?	NC_000023.10:g.32456612_32456627del	(Likely) benign	1 lab	b296cdfc9d
5:90053195 ADGRV1 C>CT	5	90053195	90053196	C	CT	ADGRV1	c.11940+217_11940+218insT	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90053195_90053196insT	(Likely) benign	1 lab	11583b186e
1:227174193 COQ8A G>T	1	227174193	227174193	G	T	COQ8A	c.1699G>T	NM_020247.5	NP_064632.2:p.(Gly567Trp)	NC_000001.10:g.227174193G>T	(Likely) pathogenic	1 lab	b2985658e3
X:117043896 KLHL13 G>C	X	117043896	117043896	G	C	KLHL13	c.743C>G	NM_001168299.1	NP_001161771.1:p.(Ser248Cys)	NC_000023.10:g.117043896G>C	VUS	1 lab	b2a089d5c4
1:196748491 CFHR3 G>A	1	196748491	196748491	G	A	CFHR3	c.253+5G>A	NM_021023.6	NP_066303.2:p.?	NC_000001.10:g.196748491G>A	VUS	1 lab	b2a7a159db
17:7804647 CHD3 T>C	17	7804647	7804647	T	C	CHD3	c.3383T>C	NM_001005271.2	NP_001005271.2:p.(Leu1128Pro)	NC_000017.10:g.7804647T>C	(Likely) pathogenic	1 lab	b2ac79dc67
5:78265012 ARSB G>A	5	78265012	78265012	G	A	ARSB	c.316C>T	NM_000046.5	NP_000037.2:p.(Arg106Cys)	NC_000005.9:g.78265012G>A	(Likely) pathogenic	1 lab	b2acd19b26
9:135864458 GFI1B C>A	9	135864458	135864458	C	A	GFI1B	c.521C>A	NM_004188.6	NP_004179.3:p.(Thr174Asn)	NC_000009.11:g.135864458C>A	VUS	1 lab	b2b193853b
2:32341182 SPAST T>A	2	32341182	32341182	T	A	SPAST	c.1005-6T>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32341182T>A	(Likely) pathogenic	1 lab	b2b20f5f19
1:193091459 CDC73 G>A	1	193091459	193091459	G	A	CDC73	c.129G>A	NM_024529.5	NP_078805.3:p.(Trp43Ter)	NC_000001.10:g.193091459G>A	(Likely) pathogenic	1 lab	b2b2e2da35
11:2905267 CDKN1C C>G	11	2905267	2905267	C	G	CDKN1C	c.353G>C	NM_001362475.2	NP_001349404.1:p.(Arg118Pro)	NC_000011.9:g.2905267C>G	(Likely) benign	1 lab	0cd37c182f
1:41282919 KCNQ4 C>T	1	41282919	41282919	C	T	KCNQ4	c.315-18C>T	NM_004700.3	NP_004691.2:p.?	NC_000001.10:g.41282919C>T	(Likely) benign	1 lab	b2b7a109d3
3:38921535 SCN11A A>G	3	38921535	38921535	A	G	SCN11A	c.3299T>C	NM_001349253.2	NP_001336182.1:p.(Ile1100Thr)	NC_000003.11:g.38921535A>G	VUS	1 lab	b2ba69c91b
3:38812826 SCN10A C>T	3	38812826	38812826	C	T	SCN10A	c.543G>A	NM_006514.3	NP_006505.3:p.(Glu181=)	NC_000003.11:g.38812826C>T	(Likely) benign	1 lab	b2bc6ab313
1:237872287 RYR2 C>T	1	237872287	237872287	C	T	RYR2	c.10031C>T	NM_001035.3	NP_001026.2:p.(Ala3344Val)	NC_000001.10:g.237872287C>T	VUS	1 lab	0cd3d60671
5:178552098 ADAMTS2 G>A	5	178552098	178552098	G	A	ADAMTS2	c.2834C>T	NM_014244.5	NP_055059.2:p.(Pro945Leu)	NC_000005.9:g.178552098G>A	VUS	1 lab	0cd46037eb
1:3329133 PRDM16 G>T	1	3329133	3329133	G	T	PRDM16	c.2372G>T	NM_022114.3	NP_071397.3:p.(Gly791Val)	NC_000001.10:g.3329133G>T	(Likely) benign	1 lab	b2bfa960f1
X:54476194 FGD1 C>T	X	54476194	54476194	C	T	FGD1	c.2047-1G>A	NM_004463.2	NP_004454.2:p.?	NC_000023.10:g.54476194C>T	(Likely) pathogenic	1 lab	b2c3e67ae7
13:32914890 BRCA2 C>G	13	32914890	32914890	C	G	BRCA2	c.6398C>G	NM_000059.3	NP_000050.2:p.(Ser2133Ter)	NC_000013.10:g.32914890C>G	(Likely) pathogenic	1 lab	b2c5d9f8b7
6:37615052 MDGA1 C>T	6	37615052	37615052	C	T	MDGA1	c.1943G>A	NM_153487.3	NP_705691.1:p.(Arg648His)	NC_000006.11:g.37615052C>T	VUS	1 lab	b2c7c331a2
19:13482532 CACNA1A G>A	19	13482532	13482532	G	A	CACNA1A				NC_000019.9:g.13482532G>A	VUS	1 lab	b375257a35
17:27580725 CRYBA1 C>CT	17	27580725	27580726	C	CT	CRYBA1	c.426dup	NM_005208.5	NP_005199.2:p.(Asp143Ter)	NC_000017.10:g.27580726dup	(Likely) pathogenic	1 lab	b2c89b8c45
X:31200895 DMD T>G	X	31200895	31200895	T	G	DMD	c.9934A>C	NM_004006.2	NP_003997.1:p.(Lys3312Gln)	NC_000023.10:g.31200895T>G	VUS	1 lab	b2c91a7bdf
1:3329199 PRDM16 C>T	1	3329199	3329199	C	T	PRDM16	c.2438C>T	NM_022114.3	NP_071397.3:p.(Ala813Val)	NC_000001.10:g.3329199C>T	VUS	1 lab	b2cc331768
3:192053230 FGF12 C>T	3	192053230	192053230	C	T	FGF12	c.334G>A	NM_021032.4	NP_066360.1:p.(Gly112Ser)	NC_000003.11:g.192053230C>T	(Likely) pathogenic	1 lab	b2ccf50a80
15:72647903 HEXA G>A	15	72647903	72647903	G	A	HEXA	c.409C>T	NM_000520.4	NP_000511.2:p.(Arg137Ter)	NC_000015.9:g.72647903G>A	(Likely) pathogenic	1 lab	b2cec3dee4
4:114279689 ANK2 T>G	4	114279689	114279689	T	G	ANK2	c.9915T>G	NM_001148.6	NP_001139.3:p.(Pro3305=)	NC_000004.11:g.114279689T>G	(Likely) benign	1 lab	b2cfd4b7f1
2:166903287 SCN1A G>A	2	166903287	166903287	G	A	SCN1A	c.1370C>T	NM_001165963.3	NP_001159435.1:p.(Ala457Val)	NC_000002.11:g.166903287G>A	VUS	1 lab	b2d234d05d
4:106861763 NPNT G>T	4	106861763	106861763	G	T	NPNT	c.823G>T	NM_001184691.1	NP_001171620.1:p.(Gly275Ter)	NC_000004.11:g.106861763G>T	VUS	1 lab	b2d3ead7c6
1:94473808 ABCA4 C>T	1	94473808	94473808	C	T	ABCA4	c.5881G>A	NM_000350.2	NP_000341.2:p.(Gly1961Arg)	NC_000001.10:g.94473808C>T	(Likely) pathogenic	1 lab	b2d577d7f3
9:22003223 CDKN2B C>T	9	22003223	22003223	C	T	CDKN2B	c.*2763G>A	NM_004936.4	NP_004927.2:p.?	NC_000009.11:g.22003223C>T	(Likely) benign	1 lab	b2d9fb1324
1:169510233 F5 G>A	1	169510233	169510233	G	A	F5	c.4095C>T	NM_000130.4	NP_000121.2:p.(Thr1365=)	NC_000001.10:g.169510233G>A	(Likely) benign	1 lab	b2ded5a6c6
12:32955363 PKP2 C>T	12	32955363	32955363	C	T	PKP2	c.2273G>A	NM_004572.3	NP_004563.2:p.(Arg758Gln)	NC_000012.11:g.32955363C>T	VUS	1 lab	b2e39ae660
3:184094183 THPO A>G	3	184094183	184094183	A	G	THPO	c.-136T>C	NM_000460.4	NP_000451.1:p.?	NC_000003.11:g.184094183A>G	(Likely) benign	1 lab	115d6f0b07
17:59878737 BRIP1 T>C	17	59878737	59878737	T	C	BRIP1	c.1017A>G	NM_032043.3	NP_114432.2:p.(Glu339=)	NC_000017.10:g.59878737T>C	(Likely) benign	1 lab	b2e4c45463
10:89717777 PTEN G>T	10	89717777	89717777	G	T	PTEN	c.801+1G>T	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89717777G>T	(Likely) pathogenic	1 lab	b2e58ab04a
3:132433966 NPHP3 G>A	3	132433966	132433966	G	A	NPHP3	c.920C>T	NM_153240.5	NP_694972.3:p.(Thr307Ile)	NC_000003.11:g.132433966G>A	VUS	1 lab	b2e789dd8a
2:128186037 PROC G>A	2	128186037	128186037	G	A	PROC	c.901G>A	NM_000312.3	NP_000303.1:p.(Ala301Thr)	NC_000002.11:g.128186037G>A	(Likely) pathogenic	1 lab	b2eb0381f8
5:161322845 GABRA1 T>A	5	161322845	161322845	T	A	GABRA1	c.1030T>A	NM_000806.5	NP_000797.2:p.(Trp344Arg)	NC_000005.9:g.161322845T>A	VUS	1 lab	b2f06f04f9
11:117281566 CEP164 C>T	11	117281566	117281566	C	T	CEP164	c.4119C>T	NM_014956.5	NP_055771.4:p.(Asn1373=)	NC_000011.9:g.117281566C>T	(Likely) benign	1 lab	11620a70ce
2:191840559 STAT1 T>A	2	191840559	191840559	T	A	STAT1	c.2114A>T	NM_007315.3	NP_009330.1:p.(Glu705Val)	NC_000002.11:g.191840559T>A	(Likely) pathogenic	1 lab	b2f23fb658
14:23858280 MYH6 G>C	14	23858280	23858280	G	C	MYH6	c.3979-16C>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23858280G>C	(Likely) benign	1 lab	b2f2771f79
2:85783341 GGCX G>A	2	85783341	85783341	G	A	GGCX	c.582C>T	NM_000821.7	NP_000812.2:p.(His194=)	NC_000002.11:g.85783341G>A	(Likely) benign	1 lab	b2f391cdc4
10:88651899 BMPR1A C>T	10	88651899	88651899	C	T	BMPR1A	c.246C>T	NM_004329.2	NP_004320.2:p.(Cys82=)	NC_000010.10:g.88651899C>T	(Likely) benign	1 lab	b2f39988f7
3:181430611 SOX2 C>T	3	181430611	181430611	C	T	SOX2	c.463C>T	NM_003106.4	NP_003097.1:p.(Gln155Ter)	NC_000003.11:g.181430611C>T	(Likely) pathogenic	1 lab	b2f539de2a
12:52115490 SCN8A A>T	12	52115490	52115490	A	T	SCN8A	c.1796A>T	NM_001330260.2	NP_001317189.1:p.(Asp599Val)	NC_000012.11:g.52115490A>T	VUS	1 lab	b2fed6321d
18:29101107 DSG2 C>A	18	29101107	29101107	C	A	DSG2	c.424C>A	NM_001943.5	NP_001934.2:p.(Pro142Thr)	NC_000018.9:g.29101107C>A	VUS	1 lab	b300d920a4
16:89178504 ACSF3 G>A	16	89178504	89178504	G	A	ACSF3	c.827G>A	NM_001127214.4	NP_001120686.1:p.(Trp276Ter)	NC_000016.9:g.89178504G>A	(Likely) pathogenic	1 lab	b301edae8c
5:138145787 CTNNA1 G>A	5	138145787	138145787	G	A	CTNNA1	c.362G>A	NM_001903.5	NP_001894.2:p.(Arg121Gln)	NC_000005.9:g.138145787G>A	VUS	1 lab	b303f1bb78
4:996511 IDUA G>C	4	996511	996511	G	C	IDUA	c.1190-9G>C	NM_000203.4	NP_000194.2:p.?	NC_000004.11:g.996511G>C	(Likely) benign	1 lab	b3047d86f8
2:48018197 MSH6 T>C	2	48018197	48018197	T	C	MSH6	c.392T>C	NM_000179.2	NP_000170.1:p.(Val131Ala)	NC_000002.11:g.48018197T>C	VUS	1 lab	b30528c29a
14:90422908 TDP1 C>A	14	90422908	90422908	C	A	TDP1	c.-230-14C>A	NM_018319.3	NP_060789.2:p.?	NC_000014.8:g.90422908C>A	(Likely) benign	1 lab	b3076e5bd4
11:118014649 SCN4B A>G	11	118014649	118014649	A	G	SCN4B	c.362T>C	NM_174934.3	NP_777594.1:p.(Leu121Pro)	NC_000011.9:g.118014649A>G	VUS	1 lab	b309336c6f
2:179413110 TTN G>A	2	179413110	179413110	G	A	TTN	c.93243C>T	NM_001267550.2	NP_001254479.2:p.(Ala31081=)	NC_000002.11:g.179413110G>A	(Likely) benign	1 lab	b3097c083c
16:51175542 SALL1 G>A	16	51175542	51175542	G	A	SALL1	c.591C>T	NM_002968.2	NP_002959.2:p.(Ile197=)	NC_000016.9:g.51175542G>A	VUS	1 lab	b30a49e097
X:585258 SHOX C>T	X	585258	585258	C	T	SHOX	c.-512C>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585258C>T	(Likely) benign	1 lab	b30b446336
17:18027860 MYO15A G>A	17	18027860	18027860	G	A	MYO15A	c.3673G>A	NM_016239.4	NP_057323.3:p.(Glu1225Lys)	NC_000017.10:g.18027860G>A	VUS	1 lab	b30dcf6567
7:33376235 BBS9 G>A	7	33376235	33376235	G	A	BBS9	c.1198+1G>A	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33376235G>A	(Likely) pathogenic	1 lab	b30fc21c37
10:18787330 CACNB2 C>T	10	18787330	18787330	C	T	CACNB2	c.380C>T	NM_201596.2	NP_963890.2:p.(Ala127Val)	NC_000010.10:g.18787330C>T	(Likely) benign	1 lab	b3117ad527
1:64095102 PGM1 C>T	1	64095102	64095102	C	T	PGM1	c.307C>T	NM_001172818.1	NP_001166289.1:p.(Arg103Cys)	NC_000001.10:g.64095102C>T	VUS	1 lab	b312d673bf
2:168106530 XIRP2 C>T	2	168106530	168106530	C	T	XIRP2	c.8628C>T	NM_152381.5	NP_689594.4:p.(Thr2876=)	NC_000002.11:g.168106530C>T	(Likely) benign	1 lab	b3143b9266
20:18513372 SEC23B C>T	20	18513372	18513372	C	T	SEC23B	c.1298C>T	NM_032985.4	NP_116780.1:p.(Pro433Leu)	NC_000020.10:g.18513372C>T	(Likely) benign	1 lab	b316577baf
12:80717630 OTOGL G>A	12	80717630	80717630	G	A	OTOGL	c.4172+10G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80717630G>A	(Likely) benign	1 lab	b316ee24bb
5:137853327 MISSING T>C	5	137853327	137853327	T	C	MISSING				NC_000005.9:g.137853327T>C	VUS	1 lab	b471cf334b
2:47637505 MSH2 GAGAC>G	2	47637505	47637511	GAGAC	G	MSH2	c.642_645del	NM_000251.2	NP_000242.1:p.(Gln215Ter)	NC_000002.11:g.47637508_47637511del	(Likely) pathogenic	1 lab	b31f0b5179
7:151949742 KMT2C C>T	7	151949742	151949742	C	T	KMT2C	c.1358G>A	NM_170606.3	NP_733751.2:p.(Cys453Tyr)	NC_000007.13:g.151949742C>T	VUS	1 lab	0cde54d647
4:187201219 F11 A>T	4	187201219	187201219	A	T	F11	c.809A>T	NM_000128.4	NP_000119.1:p.(Lys270Ile)	NC_000004.11:g.187201219A>T	(Likely) pathogenic	1 lab	b327a83300
22:21342383 LZTR1 G>A	22	21342383	21342383	G	A	LZTR1	c.485G>A	NM_006767.4	NP_006758.2:p.(Trp162Ter)	NC_000022.10:g.21342383G>A	(Likely) pathogenic	1 lab	b327c8fa92
6:26087751 HFE C>G	6	26087751	26087751	C	G	HFE	c.76+7C>G	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26087751C>G	VUS	1 lab	b3291eb088
1:247587751 NLRP3 A>G	1	247587751	247587751	A	G	NLRP3	c.1000A>G	NM_001243133.2	NP_001230062.1:p.(Ile334Val)	NC_000001.10:g.247587751A>G	VUS	1 lab	1165aa8eb6
10:131646727 EBF3 T>C	10	131646727	131646727	T	C	EBF3	c.1057A>G	NM_001375380.1	NP_001362309.1:p.(Ile353Val)	NC_000010.10:g.131646727T>C	VUS	1 lab	b32d83da16
X:12906034 TLR7 G>T	X	12906034	12906034	G	T	TLR7	c.2407G>T	NM_016562.4	NP_057646.1:p.(Val803Leu)	NC_000023.10:g.12906034G>T	VUS	1 lab	0ce32e5fef
22:24129366 SMARCB1 A>G	22	24129366	24129366	A	G	SMARCB1	c.10A>G	NM_003073.5	NP_003064.2:p.(Met4Val)	NC_000022.10:g.24129366A>G	(Likely) benign	1 lab	b32f75e85b
4:57786022 REST T>G	4	57786022	57786022	T	G	REST	c.968T>G	NM_005612.5	NP_005603.3:p.(Met323Arg)	NC_000004.11:g.57786022T>G	VUS	1 lab	b330520145
13:25479878 CPAP A>T	13	25479878	25479878	A	T	CPAP	c.2298T>A	NM_018451.5	NP_060921.3:p.(Asp766Glu)	NC_000013.10:g.25479878A>T	VUS	1 lab	0ce521bd39
6:7586085 DSP T>C	6	7586085	7586085	T	C	DSP	c.8590T>C	NM_004415.4	NP_004406.2:p.(Phe2864Leu)	NC_000006.11:g.7586085T>C	VUS	1 lab	b332c90678
5:127705046 FBN2 C>T	5	127705046	127705046	C	T	FBN2	c.2096-19G>A	NM_001999.3	NP_001990.2:p.?	NC_000005.9:g.127705046C>T	(Likely) benign	1 lab	b33492c5cf
12:125613992 AACS T>G	12	125613992	125613992	T	G	AACS	c.1535T>G	NM_023928.3	NP_076417.2:p.(Phe512Cys)	NC_000012.11:g.125613992T>G	VUS	1 lab	b3376c888f
4:47682174 CORIN A>G	4	47682174	47682174	A	G	CORIN	c.1116T>C	NM_006587.4	NP_006578.2:p.(Ser372=)	NC_000004.11:g.47682174A>G	(Likely) benign	1 lab	0ce6c42dd7
2:179399384 TTN G>C	2	179399384	179399384	G	C	TTN	c.101958C>G	NM_001267550.2	NP_001254479.2:p.(Val33986=)	NC_000002.11:g.179399384G>C	(Likely) benign	1 lab	b33903c23d
12:57532310 LRP1 C>T	12	57532310	57532310	C	T	LRP1	c.136C>T	NM_002332.3	NP_002323.2:p.(Arg46Trp)	NC_000012.11:g.57532310C>T	VUS	1 lab	0cf8ad07f6
6:83862076 DOP1A T>G	6	83862076	83862076	T	G	DOP1A	c.6092T>G	NM_001199942.1	NP_001186871.1:p.(Leu2031Ter)	NC_000006.11:g.83862076T>G	VUS	1 lab	b33c37fbb9
8:143956725 CYP11B1 G>C	8	143956725	143956725	G	C	CYP11B1	c.1125C>G	NM_000497.3	NP_000488.3:p.(Leu375=)	NC_000008.10:g.143956725G>C	(Likely) benign	1 lab	b33cac2a81
2:32289065 SPAST C>G	2	32289065	32289065	C	G	SPAST	c.165C>G	NM_014946.3	NP_055761.2:p.(Tyr55Ter)	NC_000002.11:g.32289065C>G	(Likely) pathogenic	1 lab	b33d0b93ab
7:6043355 PMS2 G>A	7	6043355	6043355	G	A	PMS2	c.319C>T	NM_000535.5	NP_000526.1:p.(Arg107Trp)	NC_000007.13:g.6043355G>A	(Likely) pathogenic	1 lab	b34907b6d6
5:112154949 APC TTCATCTTTTGGA>T	5	112154949	112154961	TTCATCTTTTGGA	T	APC	c.1221_1232del	NM_000038.6	NP_000029.2:p.(His408_Glu411del)	NC_000005.9:g.112154950_112154961del	VUS	1 lab	0cfae56032
2:47705500 MSH2 C>A	2	47705500	47705500	C	A	MSH2	c.2300C>A	NM_000251.2	NP_000242.1:p.(Ser767Ter)	NC_000002.11:g.47705500C>A	(Likely) pathogenic	1 lab	b34fa005c8
16:28905565 ATP2A1 G>A	16	28905565	28905565	G	A	ATP2A1	c.1184+1G>A	NM_173201.3	NP_775293.1:p.?	NC_000016.9:g.28905565G>A	(Likely) pathogenic	1 lab	b351c8b20e
6:111696852 REV3L T>C	6	111696852	111696852	T	C	REV3L	c.2706A>G	NM_002912.4	NP_002903.3:p.(Gly902=)	NC_000006.11:g.111696852T>C	(Likely) benign	1 lab	b35206f207
1:94480230 ABCA4 T>A	1	94480230	94480230	T	A	ABCA4	c.5329A>T	NM_000350.2	NP_000341.2:p.(Met1777Leu)	NC_000001.10:g.94480230T>A	VUS	1 lab	b35239b973
1:94546299 ABCA4 T>C	1	94546299	94546299	T	C	ABCA4	c.859-25A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94546299T>C	(Likely) pathogenic	1 lab	b35716f13d
15:89379462 ACAN G>A	15	89379462	89379462	G	A	ACAN	c.25G>A	NM_013227.3	NP_037359.3:p.(Val9Met)	NC_000015.9:g.89379462G>A	VUS	1 lab	b35aa8cead
21:47542795 COL6A2 C>T	21	47542795	47542795	C	T	COL6A2	c.1615C>T	NM_001849.3	NP_001840.3:p.(Arg539Ter)	NC_000021.8:g.47542795C>T	(Likely) pathogenic	1 lab	b35b1ece4a
14:23901118 MYH7 C>T	14	23901118	23901118	C	T	MYH7	c.531-40G>A	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23901118C>T	(Likely) benign	1 lab	b35b4bf625
15:77322031 PSTPIP1 C>T	15	77322031	77322031	C	T	PSTPIP1	c.562+116C>T	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77322031C>T	(Likely) benign	1 lab	11675d68eb
1:215916563 USH2A G>A	1	215916563	215916563	G	A	USH2A	c.11504C>T	NM_206933.2	NP_996816.2:p.(Thr3835Ile)	NC_000001.10:g.215916563G>A	(Likely) benign	1 lab	b35c5c8a63
15:77322909 PSTPIP1 G>A	15	77322909	77322909	G	A	PSTPIP1	c.629G>A	NM_003978.5	NP_003969.2:p.(Arg210Gln)	NC_000015.9:g.77322909G>A	(Likely) benign	1 lab	0cfb40cb0d
16:81969933 PLCG2 G>C	16	81969933	81969933	G	C	PLCG2	c.3002G>C	NM_002661.5	NP_002652.2:p.(Arg1001Pro)	NC_000016.9:g.81969933G>C	VUS	1 lab	0cffbd917d
8:61764618 CHD7 C>G	8	61764618	61764618	C	G	CHD7				NC_000008.10:g.61764618C>G	(Likely) pathogenic	1 lab	b36347aded
11:117279743 CEP164 G>A	11	117279743	117279743	G	A	CEP164	c.3747G>A	NM_014956.5	NP_055771.4:p.(Arg1249=)	NC_000011.9:g.117279743G>A	(Likely) benign	1 lab	1167ca7e28
17:10310241 MYH8 C>T	17	10310241	10310241	C	T	MYH8	c.2021G>A	NM_002472.2	NP_002463.2:p.(Arg674Gln)	NC_000017.10:g.10310241C>T	(Likely) pathogenic	1 lab	b36bccd60d
7:6017218 PMS2 C>T	7	6017218	6017218	C	T	PMS2	c.2445+1G>A	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6017218C>T	(Likely) pathogenic	1 lab	b36e722c83
X:132160895 USP26 C>T	X	132160895	132160895	C	T	USP26	c.1354G>A	NM_031907.3	NP_114113.1:p.(Gly452Ser)	NC_000023.10:g.132160895C>T	VUS	1 lab	b36f03757f
3:48628896 COL7A1 C>A	3	48628896	48628896	C	A	COL7A1	c.1636+1G>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48628896C>A	(Likely) pathogenic	1 lab	0d003711ba
20:42815463 JPH2 C>T	20	42815463	42815463	C	T	JPH2	c.-118G>A	NM_020433.4	NP_065166.2:p.?	NC_000020.10:g.42815463C>T	VUS	1 lab	b37161169f
2:186668586 FSIP2 A>C	2	186668586	186668586	A	C	FSIP2	c.14553A>C	NM_173651.4	NP_775922.3:p.(Lys4851Asn)	NC_000002.11:g.186668586A>C	VUS	1 lab	b3744e4d6c
X:38164016 RPGR C>T	X	38164016	38164016	C	T	RPGR	c.806G>A	NM_001034853.2	NP_001030025.1:p.(Gly269Glu)	NC_000023.10:g.38164016C>T	VUS	1 lab	b37ed4494e
9:140127137 SLC34A3 G>A	9	140127137	140127137	G	A	SLC34A3	c.286G>A	NM_080877.2	NP_543153.1:p.(Ala96Thr)	NC_000009.11:g.140127137G>A	VUS	1 lab	b37efa2e4a
11:108141744 ATM A>G	11	108141744	108141744	A	G	ATM	c.2839-47A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141744A>G	(Likely) benign	1 lab	b380029560
14:23889385 MYH7 A>G	14	23889385	23889385	A	G	MYH7	c.3395T>C	NM_000257.3	NP_000248.2:p.(Val1132Ala)	NC_000014.8:g.23889385A>G	(Likely) benign	1 lab	b380218446
17:41256313 BRCA1 T>C	17	41256313	41256313	T	C	BRCA1	c.302-35A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256313T>C	(Likely) benign	1 lab	b380773c4b
4:140262087 NAA15 T>C	4	140262087	140262087	T	C	NAA15				NC_000004.11:g.140262087T>C	VUS	1 lab	b382f2fae4
6:152728241 SYNE1 C>T	6	152728241	152728241	C	T	SYNE1				NC_000006.11:g.152728241C>T	(Likely) benign	1 lab	b3853bb91e
3:38833649 SCN10A A>C	3	38833649	38833649	A	C	SCN10A	c.281T>G	NM_006514.3	NP_006505.3:p.(Val94Gly)	NC_000003.11:g.38833649A>C	VUS	1 lab	b3867c90b7
1:224592226 WDR26 T>C	1	224592226	224592226	T	C	WDR26	c.1205A>G	NM_025160.7	NP_079436.4:p.(Tyr402Cys)	NC_000001.10:g.224592226T>C	VUS	1 lab	b391ed593c
2:179604961 TTN T>C	2	179604961	179604961	T	C	TTN	c.12999A>G	NM_001267550.2	NP_001254479.2:p.(Ala4333=)	NC_000002.11:g.179604961T>C	(Likely) benign	1 lab	b392ca6308
2:227896771 COL4A4 C>T	2	227896771	227896771	C	T	COL4A4	c.3707G>A	NM_000092.5	NP_000083.3:p.(Gly1236Glu)	NC_000002.11:g.227896771C>T	VUS	1 lab	b39587d634
16:3304676 MEFV CCGTTCCCCT>C	16	3304676	3304696	CCGTTCCCCT	C	MEFV	c.383_391del	NM_000243.3	NP_000234.1:p.(Glu128_Asn130del)	NC_000016.9:g.3304688_3304696del	VUS	1 lab	1168c1e682
2:128183690 PROC C>T	2	128183690	128183690	C	T	PROC	c.565C>T	NM_000312.4	NP_000303.1:p.(Arg189Trp)	NC_000002.11:g.128183690C>T	(Likely) pathogenic	1 lab	b3993133cb
14:23885300 MYH7 G>A	14	23885300	23885300	G	A	MYH7	c.4866C>T	NM_000257.2	NP_000248.2:p.(Leu1622=)	NC_000014.8:g.23885300G>A	(Likely) benign	1 lab	b39a1c80dd
16:31004169 STX1B T>C	16	31004169	31004169	T	C	STX1B	c.840A>G	NM_052874.4	NP_443106.1:p.(Ser280=)	NC_000016.9:g.31004169T>C	(Likely) benign	1 lab	b39b2e191d
2:47635604 MSH2 T>G	2	47635604	47635604	T	G	MSH2	c.276T>G	NM_000251.3	NP_000242.1:p.(Leu92=)	NC_000002.11:g.47635604T>G	(Likely) benign	1 lab	b39b6ea684
10:96025697 PLCE1 G>A	10	96025697	96025697	G	A	PLCE1	c.4263G>A	NM_016341.3	NP_057425.3:p.(Ser1421=)	NC_000010.10:g.96025697G>A	(Likely) benign	1 lab	b39be6c764
5:89943365 ADGRV1 C>G	5	89943365	89943365	C	G	ADGRV1	c.3073C>G	NM_032119.3	NP_115495.3:p.(Leu1025Val)	NC_000005.9:g.89943365C>G	VUS	1 lab	b3a0f63336
18:33828980 MOCOS C>G	18	33828980	33828980	C	G	MOCOS	c.2039+17C>G	NM_017947.2	NP_060417.2:p.?	NC_000018.9:g.33828980C>G	(Likely) benign	1 lab	b3a8d0e6c7
2:179498279 TTN A>C	2	179498279	179498279	A	C	TTN	c.42807T>G	NM_001267550.2	NP_001254479.2:p.(Ile14269Met)	NC_000002.11:g.179498279A>C	(Likely) benign	1 lab	b3ab45c51e
2:48026563 MSH6 G>C	2	48026563	48026563	G	C	MSH6	c.1441G>C	NM_000179.3	NP_000170.1:p.(Ala481Pro)	NC_000002.11:g.48026563G>C	(Likely) pathogenic	1 lab	b3acbbb58e
19:33333162 SLC7A9 C>A	19	33333162	33333162	C	A	SLC7A9	c.1136G>T	NM_014270.5	NP_055085.1:p.(Ser379Ile)	NC_000019.9:g.33333162C>A	VUS	1 lab	b3ad86c8d9
17:41246229 BRCA1 A>G	17	41246229	41246229	A	G	BRCA1	c.1319T>C	NM_007294.4	NP_009225.1:p.(Leu440Ser)	NC_000017.10:g.41246229A>G	(Likely) benign	1 lab	b3b0c103be
2:166848620 SCN1A G>T	2	166848620	166848620	G	T	SCN1A				NC_000002.11:g.166848620G>T	(Likely) pathogenic	1 lab	b3b29136e5
9:129453201 LMX1B TG>T	9	129453201	129453204	TG	T	LMX1B	c.416del	NM_002316.4	NP_002307.2:p.(Gly139AlafsTer41)	NC_000009.11:g.129453204del	(Likely) pathogenic	1 lab	b3b2c84b44
9:129377831 LMX1B C>G	9	129377831	129377831	C	G	LMX1B	c.309C>G	NM_002316.3	NP_002307.2:p.(Cys103Trp)	NC_000009.11:g.129377831C>G	(Likely) pathogenic	1 lab	b3b3ae5d4a
16:1259249 CACNA1H G>A	16	1259249	1259249	G	A	CACNA1H	c.3581G>A	NM_021098.2	NP_066921.2:p.(Arg1194Gln)	NC_000016.9:g.1259249G>A	(Likely) benign	1 lab	b3b5f2d41e
1:94490567 ABCA4 G>A	1	94490567	94490567	G	A	ABCA4	c.4577C>T	NM_000350.2	NP_000341.2:p.(Thr1526Met)	NC_000001.10:g.94490567G>A	(Likely) pathogenic	1 lab	b3b77231d9
20:50405651 SALL4 G>A	20	50405651	50405651	G	A	SALL4	c.2491C>T	NM_020436.5	NP_065169.1:p.(Arg831Ter)	NC_000020.10:g.50405651G>A	(Likely) pathogenic	1 lab	b3b9eec021
12:16189305 MISSING T>A	12	16189305	16189305	T	A	MISSING				NC_000012.11:g.16189305T>A	VUS	1 lab	b3bf1bb889
8:11616338 GATA4 A>C	8	11616338	11616338	A	C	GATA4	c.*354A>C	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616338A>C	(Likely) benign	1 lab	b3bfdd54e8
4:41750388 PHOX2B TGC>T	4	41750388	41750391	TGC	T	PHOX2B	c.238_239del	NM_003924.4	NP_003915.2:p.(Ala80SerfsTer97)	NC_000004.11:g.41750390_41750391del	(Likely) pathogenic	1 lab	0d02cc9022
20:42815258 JPH2 T>A	20	42815258	42815258	T	A	JPH2	c.88A>T	NM_020433.4	NP_065166.2:p.(Thr30Ser)	NC_000020.10:g.42815258T>A	VUS	1 lab	b3c36405ac
2:227922264 COL4A4 CT>C	2	227922264	227922265	CT	C	COL4A4	c.2435del	NM_000092.4	NP_000083.3:p.(Glu812GlyfsTer57)	NC_000002.11:g.227922265del	(Likely) pathogenic	1 lab	b3c36df9cd
1:43200774 CLDN19 C>A	1	43200774	43200774	C	A	CLDN19	c.658G>T	NM_148960.3	NP_683763.2:p.(Gly220Cys)	NC_000001.10:g.43200774C>A	VUS	1 lab	b3c51f1441
2:179413865 TTN C>T	2	179413865	179413865	C	T	TTN	c.92488G>A	NM_001267550.2	NP_001254479.2:p.(Val30830Ile)	NC_000002.11:g.179413865C>T	VUS	1 lab	b3c8261584
3:170819311 TNIK C>T	3	170819311	170819311	C	T	TNIK	c.2518G>A	NM_015028.2	NP_055843.1:p.(Glu840Lys)	NC_000003.11:g.170819311C>T	VUS	1 lab	b3c9df52c2
1:3328311 PRDM16 T>C	1	3328311	3328311	T	C	PRDM16	c.1550T>C	NM_022114.3	NP_071397.3:p.(Ile517Thr)	NC_000001.10:g.3328311T>C	(Likely) benign	1 lab	b3cb7b1cc9
1:229641839 NUP133 C>T	1	229641839	229641839	C	T	NUP133	c.249G>A	NM_018230.3	NP_060700.2:p.(Thr83=)	NC_000001.10:g.229641839C>T	(Likely) benign	1 lab	116c8e429e
2:167141099 SCN9A G>A	2	167141099	167141099	G	A	SCN9A	c.1838C>T	NM_002977.3	NP_002968.1:p.(Pro613Leu)	NC_000002.11:g.167141099G>A	(Likely) benign	1 lab	b3cbe80dc9
18:29078160 DSG2 G>C	18	29078160	29078160	G	C	DSG2	c.-55G>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29078160G>C	(Likely) benign	1 lab	b3cc6dbaf4
3:100963563 IMPG2 G>A	3	100963563	100963563	G	A	IMPG2	c.1612C>T	NM_016247.4	NP_057331.2:p.(Gln538Ter)	NC_000003.11:g.100963563G>A	(Likely) pathogenic	1 lab	b3cde2edda
1:62979504 DOCK7 C>T	1	62979504	62979504	C	T	DOCK7				NC_000001.10:g.62979504C>T	(Likely) pathogenic	1 lab	b3cfa5066c
16:56553773 BBS2 A>C	16	56553773	56553773	A	C	BBS2	c.2T>G	NM_031885.3	NP_114091.3:p.(Met1?)	NC_000016.9:g.56553773A>C	(Likely) pathogenic	1 lab	b3d52fb722
11:103178491 DYNC2H1 G>A	11	103178491	103178491	G	A	DYNC2H1	c.11424G>A	NM_001377.3	NP_001368.2:p.(Trp3808Ter)	NC_000011.9:g.103178491G>A	(Likely) pathogenic	1 lab	b3d79ad4a7
12:48386675 COL2A1 G>A	12	48386675	48386675	G	A	COL2A1	c.1009C>T	NM_001844.4	NP_001835.3:p.(Pro337Ser)	NC_000012.11:g.48386675G>A	VUS	1 lab	b3dcbde67d
2:48026582 MSH6 A>G	2	48026582	48026582	A	G	MSH6	c.1460A>G	NM_000179.3	NP_000170.1:p.(Glu487Gly)	NC_000002.11:g.48026582A>G	VUS	1 lab	b3dcc1d9fd
12:112926897 PTPN11 A>C	12	112926897	112926897	A	C	PTPN11	c.1517A>C	NM_002834.5	NP_002825.3:p.(Gln506Pro)	NC_000012.11:g.112926897A>C	(Likely) pathogenic	1 lab	b3dd8957ae
6:76624720 MYO6 G>GT	6	76624720	76624722	G	GT	MYO6	c.3851dup	NM_004999.3	NP_004990.3:p.(Leu1284PhefsTer39)	NC_000006.11:g.76624722dup	VUS	1 lab	b3deee0bbc
12:111358234 MYL2 G>A	12	111358234	111358234	G	A	MYL2	c.3+97C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111358234G>A	(Likely) benign	1 lab	b3df93c817
1:115267916 MISSING T>TC	1	115267916	115267921	T	TC	MISSING				NC_000001.10:g.115267921dup	VUS	1 lab	b3dfc28d9a
17:70120313 SOX9 C>T	17	70120313	70120313	C	T	SOX9	c.1315C>T	NM_000346.3	NP_000337.1:p.(Gln439Ter)	NC_000017.10:g.70120313C>T	(Likely) pathogenic	1 lab	b3dffea389
11:118468480 ARCN1 C>T	11	118468480	118468480	C	T	ARCN1	c.1300C>T	NM_001655.5	NP_001646.2:p.(Arg434Ter)	NC_000011.9:g.118468480C>T	(Likely) pathogenic	1 lab	b3e044823c
9:34647864 GALT C>T	9	34647864	34647864	C	T	GALT	c.413C>T	NM_000155.4	NP_000146.2:p.(Thr138Met)	NC_000009.11:g.34647864C>T	(Likely) pathogenic	1 lab	b3e11de54c
13:20625587 ZMYM2 CTG>C	13	20625587	20625590	CTG	C	ZMYM2	c.2309_2310del	NM_003453.6	NP_003444.1:p.(Cys770LeufsTer2)	NC_000013.10:g.20625589_20625590del	(Likely) pathogenic	1 lab	0d0409cfaa
4:183676061 TENM3 C>T	4	183676061	183676061	C	T	TENM3	c.4541C>T	NM_001080477.4	NP_001073946.1:p.(Ala1514Val)	NC_000004.11:g.183676061C>T	VUS	1 lab	b3eaf36787
12:56571833 SMARCC2 C>T	12	56571833	56571833	C	T	SMARCC2	c.1355G>A	NM_001330288.2	NP_001317217.1:p.(Gly452Asp)	NC_000012.11:g.56571833C>T	VUS	1 lab	b3ed7da37b
20:35521470 SAMHD1 C>A	20	35521470	35521470	C	A	SAMHD1	c.1747-1G>T	NM_015474.4	NP_056289.2:p.?	NC_000020.10:g.35521470C>A	VUS	1 lab	0d09a19a52
14:99642426 BCL11B G>T	14	99642426	99642426	G	T	BCL11B	c.747C>A	NM_138576.4	NP_612808.1:p.(Tyr249Ter)	NC_000014.8:g.99642426G>T	(Likely) pathogenic	1 lab	b3f35dde4d
8:43047466 HGSNAT G>T	8	43047466	43047466	G	T	HGSNAT	c.1270G>T	NM_152419.3	NP_689632.2:p.(Gly424Cys)	NC_000008.10:g.43047466G>T	VUS	1 lab	b3f3fdcd4f
2:26683721 OTOF G>A	2	26683721	26683721	G	A	OTOF				NC_000002.11:g.26683721G>A	VUS	1 lab	b3f543ee4a
19:4101041 MAP2K2 G>A	19	4101041	4101041	G	A	MAP2K2	c.681C>T	NM_030662.3	NP_109587.1:p.(Phe227=)	NC_000019.9:g.4101041G>A	(Likely) benign	1 lab	b3f6323496
3:124449394 UMPS T>C	3	124449394	124449394	T	C	UMPS	c.76T>C	NM_000373.4	NP_000364.1:p.(Phe26Leu)	NC_000003.11:g.124449394T>C	VUS	1 lab	b3f8cc5797
6:152763204 SYNE1 T>C	6	152763204	152763204	T	C	SYNE1	c.4008+6A>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152763204T>C	(Likely) benign	1 lab	b3fbb3ed28
9:98222045 PTCH1 CA>C	9	98222045	98222046	CA	C	PTCH1	c.2723del	NM_000264.3	NP_000255.2:p.(Val908GlyfsTer16)	NC_000009.11:g.98222046del	(Likely) pathogenic	1 lab	b3ff2a4eda
17:40766539 TUBG1 G>A	17	40766539	40766539	G	A	TUBG1	c.1022G>A	NM_001070.4	NP_001061.2:p.(Arg341Gln)	NC_000017.10:g.40766539G>A	VUS	1 lab	b40329dbce
18:34191951 FHOD3 G>A	18	34191951	34191951	G	A	FHOD3	c.850G>A	NM_025135.5	NP_079411.2:p.(Asp284Asn)	NC_000018.9:g.34191951G>A	(Likely) benign	1 lab	0d12d32c88
11:1861832 TNNI2 C>A	11	1861832	1861832	C	A	TNNI2	c.132C>A	NM_003282.4	NP_003273.1:p.(Tyr44Ter)	NC_000011.9:g.1861832C>A	VUS	1 lab	0d14af05a6
16:3799668 CREBBP G>A	16	3799668	3799668	G	A	CREBBP	c.3796C>T	NM_004380.2	NP_004371.2:p.(Gln1266Ter)	NC_000016.9:g.3799668G>A	(Likely) pathogenic	1 lab	b4162fa26c
17:33428038 RAD51D C>T	17	33428038	33428038	C	T	RAD51D	c.921G>A	NM_002878.3	NP_002869.3:p.(Glu307=)	NC_000017.10:g.33428038C>T	(Likely) benign	1 lab	b416f3198a
5:155935693 SGCD A>G	5	155935693	155935693	A	G	SGCD	c.275A>G	NM_000337.6	NP_000328.2:p.(Lys92Arg)	NC_000005.9:g.155935693A>G	VUS	1 lab	0d16a388e5
19:50826334 KCNC3 C>A	19	50826334	50826334	C	A	KCNC3	c.1876G>T	NM_004977.3	NP_004968.2:p.(Gly626Trp)	NC_000019.9:g.50826334C>A	VUS	1 lab	1182072c32
6:42946071 PEX6 A>ACAAG	6	42946071	42946076	A	ACAAG	PEX6	c.814_817dup	NM_000287.3	NP_000278.3:p.(Val273AlafsTer9)	NC_000006.11:g.42946073_42946076dup	(Likely) pathogenic	1 lab	b421cb1e13
20:33568517 MYH7B C>T	20	33568517	33568517	C	T	MYH7B	c.605C>T	NM_020884.4	NP_065935.3:p.(Ala202Val)	NC_000020.10:g.33568517C>T	VUS	1 lab	b4226c2bc5
19:7532444 ARHGEF18 C>G	19	7532444	7532444	C	G	ARHGEF18	c.3354C>G	NM_001367823.1	NP_001354752.1:p.(His1118Gln)	NC_000019.9:g.7532444C>G	VUS	1 lab	b4244a7311
19:7132270 INSR C>T	19	7132270	7132270	C	T	INSR	c.2741G>A	NM_000208.4	NP_000199.2:p.(Arg914His)	NC_000019.9:g.7132270C>T	(Likely) benign	1 lab	118534e8e6
16:56947275 SLC12A3 C>T	16	56947275	56947275	C	T	SLC12A3	c.3051C>T	NM_000339.2	NP_000330.2:p.(Ile1017=)	NC_000016.9:g.56947275C>T	(Likely) benign	1 lab	b425b053a5
2:48028174 MSH6 C>T	2	48028174	48028174	C	T	MSH6	c.3052C>T	NM_000179.2	NP_000170.1:p.(Leu1018Phe)	NC_000002.11:g.48028174C>T	VUS	1 lab	b4270a1907
12:6128617 VWF C>T	12	6128617	6128617	C	T	VWF	c.3967G>A	NM_000552.3	NP_000543.2:p.(Asp1323Asn)	NC_000012.11:g.6128617C>T	VUS	1 lab	b42742e555
7:100225070 TFR2 A>G	7	100225070	100225070	A	G	TFR2	c.1812T>C	NM_003227.4	NP_003218.2:p.(Tyr604=)	NC_000007.13:g.100225070A>G	VUS	1 lab	b4297fad66
17:59560499 TBX4 G>A	17	59560499	59560499	G	A	TBX4	c.1260G>A	NM_018488.3	NP_060958.2:p.(Trp420Ter)	NC_000017.10:g.59560499G>A	(Likely) pathogenic	1 lab	0d1a7ddb46
2:179574291 TTN A>G	2	179574291	179574291	A	G	TTN	c.25021+2T>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179574291A>G	(Likely) pathogenic	1 lab	b42a2657f5
8:100866425 VPS13B C>T	8	100866425	100866425	C	T	VPS13B	c.10808C>T	NM_152564.5	NP_689777.3:p.(Ala3603Val)	NC_000008.10:g.100866425C>T	VUS	1 lab	b42ae6de6a
13:32931892 BRCA2 G>A	13	32931892	32931892	G	A	BRCA2	c.7631G>A	NM_000059.4	NP_000050.3:p.(Gly2544Asp)	NC_000013.10:g.32931892G>A	VUS	1 lab	b42b72889b
15:67529154 AAGAB GA>G	15	67529154	67529155	GA	G	AAGAB	c.77del	NM_024666.4	NP_078942.3:p.(Ile26ThrfsTer11)	NC_000015.9:g.67529155del	(Likely) pathogenic	1 lab	b42fc3932b
2:48060014 FBXO11 G>GT	2	48060014	48060016	G	GT	FBXO11				NC_000002.11:g.48060016dup	(Likely) pathogenic	1 lab	b42fd2e8e8
12:32945286 PKP2 T>G	12	32945286	32945286	T	G	PKP2	c.*72A>C	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945286T>G	(Likely) benign	1 lab	b430139db8
12:6091156 VWF G>C	12	6091156	6091156	G	C	VWF	c.7083C>G	NM_000552.3	NP_000543.2:p.(Ala2361=)	NC_000012.11:g.6091156G>C	(Likely) benign	1 lab	b431c14b1f
21:38877584 DYRK1A A>G	21	38877584	38877584	A	G	DYRK1A	c.1240-2A>G	NM_001396.3	NP_001387.2:p.?	NC_000021.8:g.38877584A>G	(Likely) pathogenic	1 lab	b432c552fb
3:132403447 NPHP3 G>A	3	132403447	132403447	G	A	NPHP3	c.3521C>T	NM_153240.4	NP_694972.3:p.(Pro1174Leu)	NC_000003.11:g.132403447G>A	VUS	1 lab	b434f09483
6:35471539 TULP1 C>T	6	35471539	35471539	C	T	TULP1	c.1199G>A	NM_003322.5	NP_003313.3:p.(Arg400Gln)	NC_000006.11:g.35471539C>T	(Likely) pathogenic	1 lab	b43610704e
10:73574843 CDH23 G>A	10	73574843	73574843	G	A	CDH23	c.9873G>A	NM_022124.5	NP_071407.4:p.(Thr3291=)	NC_000010.10:g.73574843G>A	(Likely) benign	1 lab	b438995859
22:32269318 DEPDC5 C>T	22	32269318	32269318	C	T	DEPDC5	c.3563C>T	NM_001242896.3	NP_001229825.1:p.(Ser1188Leu)	NC_000022.10:g.32269318C>T	VUS	1 lab	0d227f4850
5:1279412 TERT A>C	5	1279412	1279412	A	C	TERT	c.2124T>G	NM_198253.2	NP_937983.2:p.(Phe708Leu)	NC_000005.9:g.1279412A>C	VUS	1 lab	b4472909d3
4:1807495 FGFR3 T>A	4	1807495	1807495	T	A	FGFR3	c.1664T>A	NM_000142.5	NP_000133.1:p.(Val555Glu)	NC_000004.11:g.1807495T>A	VUS	1 lab	b448f4d292
X:107167598 MID2 G>C	X	107167598	107167598	G	C	MID2	c.1461G>C	NM_012216.3	NP_036348.2:p.(Trp487Cys)	NC_000023.10:g.107167598G>C	VUS	1 lab	b44ae6415f
8:25280800 GNRH1 C>G	8	25280800	25280800	C	G	GNRH1	c.47G>C	NM_001083111.1	NP_001076580.1:p.(Trp16Ser)	NC_000008.10:g.25280800C>G	(Likely) benign	1 lab	b44bd3676f
15:43902548 STRC G>A	15	43902548	43902548	G	A	STRC				NC_000015.9:g.43902548G>A	(Likely) pathogenic	1 lab	b44c75d877
8:61773667 CHD7 AT>A	8	61773667	61773668	AT	A	CHD7	c.7814del	NM_017780.4	NP_060250.2:p.(Met2605SerfsTer34)	NC_000008.10:g.61773668del	(Likely) pathogenic	1 lab	b44eaca813
14:23902386 MYH7 G>A	14	23902386	23902386	G	A	MYH7	c.252C>T	NM_000257.3	NP_000248.2:p.(Phe84=)	NC_000014.8:g.23902386G>A	(Likely) benign	1 lab	b4518be425
1:237806615 RYR2 TC>T	1	237806615	237806619	TC	T	RYR2	c.7222-8del	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237806619del	(Likely) benign	1 lab	b452dd3453
3:10188257 VHL G>T	3	10188257	10188257	G	T	VHL	c.400G>T	NM_000551.3	NP_000542.1:p.(Glu134Ter)	NC_000003.11:g.10188257G>T	(Likely) pathogenic	1 lab	b459186c54
1:209974743 IRF6 G>A	1	209974743	209974743	G	A	IRF6	c.16C>T	NM_006147.3	NP_006138.1:p.(Arg6Cys)	NC_000001.10:g.209974743G>A	(Likely) pathogenic	1 lab	b45db31763
16:67469946 HSD11B2 A>G	16	67469946	67469946	A	G	HSD11B2	c.565A>G	NM_000196.4	NP_000187.3:p.(Met189Val)	NC_000016.9:g.67469946A>G	VUS	1 lab	b45e10a160
12:133218812 POLE G>A	12	133218812	133218812	G	A	POLE	c.5124C>T	NM_006231.4	NP_006222.2:p.(Phe1708=)	NC_000012.11:g.133218812G>A	(Likely) benign	1 lab	0d23a0f6f4
1:156105695 LMNA G>A	1	156105695	156105695	G	A	LMNA	c.940G>A	NM_170707.3	NP_733821.1:p.(Ala314Thr)	NC_000001.10:g.156105695G>A	VUS	1 lab	b461f3af52
17:56798088 RAD51C T>A	17	56798088	56798088	T	A	RAD51C	c.838-19T>A	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56798088T>A	(Likely) benign	1 lab	b4645bfda1
4:68620023 GNRHR G>T	4	68620023	68620023	G	T	GNRHR	c.31C>A	NM_000406.3	NP_000397.1:p.(Gln11Lys)	NC_000004.11:g.68620023G>T	(Likely) pathogenic	1 lab	b466ac9b1e
19:50100092 PRR12 C>T	19	50100092	50100092	C	T	PRR12	c.2500C>T	NM_020719.1	NP_065770.1:p.(Gln834Ter)	NC_000019.9:g.50100092C>T	(Likely) pathogenic	1 lab	b469192422
2:44547455 SLC3A1 T>G	2	44547455	44547455	T	G	SLC3A1	c.1735T>G	NM_000341.3	NP_000332.2:p.(Tyr579Asp)	NC_000002.11:g.44547455T>G	VUS	1 lab	b46af12170
3:184094035 CHRD C>T	3	184094035	184094035	C	T	CHRD				NC_000003.11:g.184094035C>T	(Likely) pathogenic	1 lab	b46ce52b83
11:47369107 MYBPC3 G>C	11	47369107	47369107	G	C	MYBPC3	c.852-77C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369107G>C	(Likely) benign	1 lab	b46e640b7a
19:35793360 MAG G>A	19	35793360	35793360	G	A	MAG	c.980G>A	NM_002361.3	NP_002352.1:p.(Trp327Ter)	NC_000019.9:g.35793360G>A	VUS	1 lab	b473d16060
1:155452078 ASH1L T>TAG	1	155452078	155452081	T	TAG	ASH1L	c.581_582dup	NM_018489.3	NP_060959.2:p.(Thr195LeufsTer11)	NC_000001.10:g.155452080_155452081dup	(Likely) pathogenic	1 lab	0d2ab03cb6
1:156083998 LMNA Ref too long to show for this DEL>C	1	156083998	156088639	Ref too long to show for this DEL	C	LMNA	c.-206-503_356+3574del	NM_001282625.1	NP_001269554.1:p.?	NC_000001.10:g.156084001_156088639del	(Likely) pathogenic	1 lab	0d2bd65e32
1:152280900 FLG T>G	1	152280900	152280900	T	G	FLG	c.6462A>C	NM_002016.1	NP_002007.1:p.(Gln2154His)	NC_000001.10:g.152280900T>G	(Likely) benign	1 lab	b47eaa9669
3:49162504 LAMB2 G>T	3	49162504	49162504	G	T	LAMB2	c.2819C>A	NM_002292.4	NP_002283.3:p.(Ala940Asp)	NC_000003.11:g.49162504G>T	VUS	1 lab	b47f643c12
13:32914152 BRCA2 C>T	13	32914152	32914152	C	T	BRCA2	c.5660C>T	NM_000059.3	NP_000050.2:p.(Thr1887Met)	NC_000013.10:g.32914152C>T	(Likely) benign	1 lab	b4809874f1
2:228118840 COL4A3 G>T	2	228118840	228118840	G	T	COL4A3	c.778G>T	NM_000091.5	NP_000082.2:p.(Glu260Ter)	NC_000002.11:g.228118840G>T	(Likely) pathogenic	1 lab	b481a70276
1:169529973 F5 C>T	1	169529973	169529973	C	T	F5	c.405G>A	NM_000130.4	NP_000121.2:p.(Ala135=)	NC_000001.10:g.169529973C>T	(Likely) benign	1 lab	b484a48414
3:37067499 MLH1 G>T	3	37067499	37067499	G	T	MLH1	c.1409+1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37067499G>T	(Likely) pathogenic	1 lab	b486ada4ec
17:62018580 SCN4A G>A	17	62018580	62018580	G	A	SCN4A	c.5062C>T	NM_000334.4	NP_000325.4:p.(Leu1688=)	NC_000017.10:g.62018580G>A	(Likely) benign	1 lab	b487f9417e
9:136412195 ADAMTSL2 G>A	9	136412195	136412195	G	A	ADAMTSL2	c.799G>A	NM_014694.4	NP_055509.2:p.(Gly267Ser)	NC_000009.11:g.136412195G>A	(Likely) pathogenic	1 lab	b48a078072
1:3335299 PRDM16 A>C	1	3335299	3335299	A	C	PRDM16	c.2930A>C	NM_022114.3	NP_071397.3:p.(Gln977Pro)	NC_000001.10:g.3335299A>C	VUS	1 lab	b48c27fa94
2:227897076 COL4A4 A>G	2	227897076	227897076	A	G	COL4A4	c.3578-84T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227897076A>G	(Likely) benign	1 lab	b48cd680eb
4:155490649 FGB TTTTG>T	4	155490649	155490656	TTTTG	T	FGB	c.959-13_959-10del	NM_005141.5	NP_005132.2:p.?	NC_000004.11:g.155490653_155490656del	(Likely) benign	1 lab	11870f1074
10:112570153 RBM20 G>A	10	112570153	112570153	G	A	RBM20	c.1813G>A	NM_001134363.3	NP_001127835.2:p.(Ala605Thr)	NC_000010.10:g.112570153G>A	(Likely) benign	1 lab	b493aa616e
X:43817770 NDP C>G	X	43817770	43817770	C	G	NDP	c.122G>C	NM_000266.3	NP_000257.1:p.(Arg41Thr)	NC_000023.10:g.43817770C>G	(Likely) pathogenic	1 lab	b4970f67c3
21:30701844 BACH1 C>G	21	30701844	30701844	C	G	BACH1	c.1606C>G	NM_206866.2	NP_996749.1:p.(Leu536Val)	NC_000021.8:g.30701844C>G	VUS	1 lab	b4987df26d
7:154379727 MISSING A>G	7	154379727	154379727	A	G	MISSING				NC_000007.13:g.154379727A>G	(Likely) benign	1 lab	b49af0d284
21:45753072 CFAP410 G>A	21	45753072	45753072	G	A	CFAP410				NC_000021.8:g.45753072G>A	VUS	1 lab	b49b00c16c
9:132584967 TOR1A T>G	9	132584967	132584967	T	G	TOR1A	c.337A>C	NM_000113.3	NP_000104.1:p.(Lys113Gln)	NC_000009.11:g.132584967T>G	VUS	1 lab	0d2c46f444
17:7578454 TP53 G>A	17	7578454	7578454	G	A	TP53				NC_000017.10:g.7578454G>A	(Likely) pathogenic	1 lab	b4a047563e
12:52309960 ACVRL1 G>A	12	52309960	52309960	G	A	ACVRL1	c.1189G>A	NM_000020.2	NP_000011.2:p.(Asp397Asn)	NC_000012.11:g.52309960G>A	(Likely) pathogenic	1 lab	3501ba6476
19:50909635 POLD1 GCAGCCCAC>G	19	50909635	50909652	GCAGCCCAC	G	POLD1	c.1384-19_1384-12del	NM_001308632.1	NP_001295561.1:p.?	NC_000019.9:g.50909645_50909652del	(Likely) benign	1 lab	b4a485958e
5:147496015 SPINK5 G>T	5	147496015	147496015	G	T	SPINK5	c.2098G>T	NM_006846.4	NP_006837.2:p.(Gly700Ter)	NC_000005.9:g.147496015G>T	(Likely) pathogenic	1 lab	b4a4c2f897
5:132269979 AFF4 T>C	5	132269979	132269979	T	C	AFF4	c.778A>G	NM_014423.4	NP_055238.1:p.(Met260Val)	NC_000005.9:g.132269979T>C	(Likely) pathogenic	1 lab	b4a8009001
10:294307 ZMYND11 C>A	10	294307	294307	C	A	ZMYND11	c.1259C>A	NM_006624.5	NP_006615.2:p.(Ser420Tyr)	NC_000010.10:g.294307C>A	(Likely) pathogenic	1 lab	b4a803dcb3
1:27058098 ARID1A A>T	1	27058098	27058098	A	T	ARID1A	c.1803+3A>T	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27058098A>T	(Likely) pathogenic	1 lab	b4a8387c75
7:44268523 CAMK2B G>A	7	44268523	44268523	G	A	CAMK2B	c.1340C>T	NM_001220.5	NP_001211.3:p.(Ser447Phe)	NC_000007.13:g.44268523G>A	(Likely) pathogenic	1 lab	b4a8601b96
10:69934300 MYPN C>T	10	69934300	69934300	C	T	MYPN	c.2451C>T	NM_032578.3	NP_115967.2:p.(Val817=)	NC_000010.10:g.69934300C>T	(Likely) benign	1 lab	b4ad01ef49
3:129251210 RHO T>G	3	129251210	129251210	T	G	RHO	c.647T>G	NM_000539.3	NP_000530.1:p.(Met216Arg)	NC_000003.11:g.129251210T>G	(Likely) pathogenic	1 lab	b4ae01c196
1:228566443 OBSCN G>GA	1	228566443	228566444	G	GA	OBSCN				NC_000001.10:g.228566444dup	VUS	1 lab	b4b00470dd
17:41226546 BRCA1 G>A	17	41226546	41226546	G	A	BRCA1	c.4485-8C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41226546G>A	(Likely) benign	1 lab	b4b3dfe689
7:91708651 AKAP9 G>A	7	91708651	91708651	G	A	AKAP9	c.7204G>A	NM_005751.4	NP_005742.4:p.(Val2402Ile)	NC_000007.13:g.91708651G>A	(Likely) benign	1 lab	b4b78822c0
3:121980707 CASR T>A	3	121980707	121980707	T	A	CASR	c.825T>A	NM_000388.3	NP_000379.2:p.(Asp275Glu)	NC_000003.11:g.121980707T>A	VUS	1 lab	b4bd17b8bc
10:104836853 CNNM2 C>T	10	104836853	104836853	C	T	CNNM2				NC_000010.10:g.104836853C>T	(Likely) benign	1 lab	b4bf7a8618
14:102478348 DYNC1H1 A>C	14	102478348	102478348	A	C	DYNC1H1	c.6755A>C	NM_001376.5	NP_001367.2:p.(His2252Pro)	NC_000014.8:g.102478348A>C	VUS	1 lab	b4bfa26cc5
1:147380332 GJA8 T>A	1	147380332	147380332	T	A	GJA8	c.250T>A	NM_005267.5	NP_005258.2:p.(Phe84Ile)	NC_000001.10:g.147380332T>A	(Likely) benign	1 lab	b4cf2b0125
X:153608070 EMD GAGA>G	X	153608070	153608079	GAGA	G	EMD	c.110_112del	NM_000117.2	NP_000108.1:p.(Lys37del)	NC_000023.10:g.153608077_153608079del	(Likely) pathogenic	1 lab	b4cf5b696a
X:8553380 ANOS1 G>A	X	8553380	8553380	G	A	ANOS1				NC_000023.10:g.8553380G>A	(Likely) pathogenic	1 lab	b4d32d3b68
21:46888401 COL18A1 A>G	21	46888401	46888401	A	G	COL18A1	c.352A>G	NM_001379500.1	NP_001366429.1:p.(Met118Val)	NC_000021.8:g.46888401A>G	VUS	1 lab	0d382fe69d
X:154004584 DKC1 C>T	X	154004584	154004584	C	T	DKC1	c.1461C>T	NM_001363.4	NP_001354.1:p.(Ala487=)	NC_000023.10:g.154004584C>T	(Likely) benign	1 lab	b4d7d1406f
10:73270759 CDH23 G>A	10	73270759	73270759	G	A	CDH23				NC_000010.10:g.73270759G>A	(Likely) pathogenic	1 lab	b4d9a64be7
1:29385309 EPB41 T>A	1	29385309	29385309	T	A	EPB41	c.1275+152T>A	NM_203342.2	NP_976217.1:p.?	NC_000001.10:g.29385309T>A	(Likely) benign	1 lab	118eab2bbb
2:179431774 TTN A>G	2	179431774	179431774	A	G	TTN	c.79085T>C	NM_001267550.2	NP_001254479.2:p.(Met26362Thr)	NC_000002.11:g.179431774A>G	(Likely) benign	1 lab	b4da681d96
2:47709980 MSH2 G>A	2	47709980	47709980	G	A	MSH2	c.2697G>A	NM_000251.2	NP_000242.1:p.(Met899Ile)	NC_000002.11:g.47709980G>A	(Likely) benign	1 lab	b4dacfd137
16:23619300 PALB2 C>A	16	23619300	23619300	C	A	PALB2	c.3235G>T	NM_024675.3	NP_078951.2:p.(Ala1079Ser)	NC_000016.9:g.23619300C>A	(Likely) benign	1 lab	b4dc246914
1:237791209 RYR2 G>A	1	237791209	237791209	G	A	RYR2	c.6269G>A	NM_001035.3	NP_001026.2:p.(Arg2090Gln)	NC_000001.10:g.237791209G>A	VUS	1 lab	b4e0e1320c
20:57485820 GNAS G>A	20	57485820	57485820	G	A	GNAS	c.3050G>A	NM_080425.4	NP_536350.2:p.(Arg1017His)	NC_000020.10:g.57485820G>A	(Likely) pathogenic	1 lab	b4e10e8c8d
11:103070036 DYNC2H1 T>C	11	103070036	103070036	T	C	DYNC2H1	c.7919T>C	NM_001377.3	NP_001368.2:p.(Ile2640Thr)	NC_000011.9:g.103070036T>C	(Likely) pathogenic	1 lab	b4e1d368cb
1:3334508 PRDM16 C>A	1	3334508	3334508	C	A	PRDM16	c.2808C>A	NM_022114.3	NP_071397.3:p.(Pro936=)	NC_000001.10:g.3334508C>A	(Likely) benign	1 lab	b4e7286047
17:59876544 BRIP1 C>T	17	59876544	59876544	C	T	BRIP1	c.1257G>A	NM_032043.3	NP_114432.2:p.(Arg419=)	NC_000017.10:g.59876544C>T	(Likely) benign	1 lab	b4e83734cb
16:70516637 COG4 C>G	16	70516637	70516637	C	G	COG4	c.1915G>C	NM_015386.2	NP_056201.2:p.(Glu639Gln)	NC_000016.9:g.70516637C>G	VUS	1 lab	b4e923a32e
X:85236814 CHM C>T	X	85236814	85236814	C	T	CHM	c.117-1G>A	NM_000390.4	NP_000381.1:p.?	NC_000023.10:g.85236814C>T	(Likely) pathogenic	1 lab	b4ecbb32d1
X:48933232 WDR45 G>A	X	48933232	48933232	G	A	WDR45	c.700C>T	NM_007075.3	NP_009006.2:p.(Arg234Ter)	NC_000023.10:g.48933232G>A	(Likely) pathogenic	1 lab	1193c43121
3:48610100 COL7A1 T>C	3	48610100	48610100	T	C	COL7A1	c.6900+4A>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48610100T>C	(Likely) pathogenic	1 lab	b4ede0df9f
2:165953826 SCN3A C>T	2	165953826	165953826	C	T	SCN3A	c.4175G>A	NM_006922.3	NP_008853.3:p.(Arg1392Gln)	NC_000002.11:g.165953826C>T	VUS	1 lab	b4efc50aad
11:19223518 CSRP3 G>A	11	19223518	19223518	G	A	CSRP3	c.-46C>T	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19223518G>A	(Likely) benign	1 lab	b4f95c09f3
5:161576176 GABRG2 G>T	5	161576176	161576176	G	T	GABRG2	c.985G>T	NM_000816.3	NP_000807.2:p.(Val329Phe)	NC_000005.9:g.161576176G>T	VUS	1 lab	0d3a7a5bf1
14:64596851 SYNE2 C>T	14	64596851	64596851	C	T	SYNE2	c.14225C>T	NM_182914.2	NP_878918.2:p.(Ala4742Val)	NC_000014.8:g.64596851C>T	(Likely) benign	1 lab	b4fa1573ab
7:81695859 CACNA2D1 G>A	7	81695859	81695859	G	A	CACNA2D1	c.659-19C>T	NM_000722.2	NP_000713.2:p.?	NC_000007.13:g.81695859G>A	(Likely) benign	1 lab	b51a42ed16
5:14358431 TRIO G>A	5	14358431	14358431	G	A	TRIO	c.2191G>A	NM_007118.4	NP_009049.2:p.(Gly731Arg)	NC_000005.9:g.14358431G>A	VUS	1 lab	0d4263809c
9:2718476 KCNV2 T>C	9	2718476	2718476	T	C	KCNV2	c.737T>C	NM_133497.4	NP_598004.1:p.(Leu246Pro)	NC_000009.11:g.2718476T>C	VUS	1 lab	b4fa723246
2:47672673 MSH2 C>G	2	47672673	47672673	C	G	MSH2	c.1277-14C>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47672673C>G	(Likely) pathogenic	1 lab	b4fabc7a4a
1:152276626 FLG G>C	1	152276626	152276626	G	C	FLG	c.10736C>G	NM_002016.1	NP_002007.1:p.(Thr3579Arg)	NC_000001.10:g.152276626G>C	(Likely) benign	1 lab	b4fd59ec4b
2:167298068 SCN7A T>C	2	167298068	167298068	T	C	SCN7A	c.1995A>G	NM_002976.4	NP_002967.2:p.(Gln665=)	NC_000002.11:g.167298068T>C	(Likely) benign	1 lab	b4feb4083a
12:6128509 VWF C>T	12	6128509	6128509	C	T	VWF	c.4075G>A	NM_000552.3	NP_000543.2:p.(Glu1359Lys)	NC_000012.11:g.6128509C>T	(Likely) pathogenic	1 lab	b4ff1e1bfa
17:72862651 FDXR G>A	17	72862651	72862651	G	A	FDXR	c.310C>T	NM_024417.5	NP_077728.3:p.(Arg104Cys)	NC_000017.10:g.72862651G>A	VUS	1 lab	b502c49b79
2:73761942 ALMS1 C>T	2	73761942	73761942	C	T	ALMS1	c.9785-9C>T	NM_015120.4	NP_055935.4:p.?	NC_000002.11:g.73761942C>T	(Likely) benign	1 lab	12f7000950
14:74960551 ISCA2 A>T	14	74960551	74960551	A	T	ISCA2	c.71+3A>T	NM_194279.4	NP_919255.2:p.?	NC_000014.8:g.74960551A>T	(Likely) pathogenic	1 lab	b5066b643a
3:38663863 SCN5A G>A	3	38663863	38663863	G	A	SCN5A	c.482+28C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38663863G>A	(Likely) benign	1 lab	b507a61ace
X:73960965 NEXMIF C>G	X	73960965	73960965	C	G	NEXMIF	c.3427G>C	NM_001008537.2	NP_001008537.1:p.(Asp1143His)	NC_000023.10:g.73960965C>G	VUS	1 lab	b50a41a722
11:108200982 ATM T>G	11	108200982	108200982	T	G	ATM	c.7349T>G	NM_000051.4	NP_000042.3:p.(Leu2450Ter)	NC_000011.9:g.108200982T>G	(Likely) pathogenic	1 lab	b5115218b2
11:124749411 ROBO3 C>T	11	124749411	124749411	C	T	ROBO3	c.3736C>T	NM_022370.3	NP_071765.2:p.(Arg1246Cys)	NC_000011.9:g.124749411C>T	VUS	1 lab	b51a9b3425
2:227974004 COL4A4 T>C	2	227974004	227974004	T	C	COL4A4	c.595-2A>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227974004T>C	(Likely) pathogenic	1 lab	b51cd75d41
1:109445821 GPSM2 CATTTTGCTGAAAA>C	1	109445821	109445834	CATTTTGCTGAAAA	C	GPSM2	c.1028_1040del	NM_013296.4	NP_037428.3:p.(His343ArgfsTer16)	NC_000001.10:g.109445822_109445834del	(Likely) pathogenic	1 lab	b51f6b7584
4:15517628 CC2D2A G>C	4	15517628	15517628	G	C	CC2D2A	c.1017+1G>C	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15517628G>C	(Likely) pathogenic	1 lab	b51fc771a4
10:102780422 PDZD7 T>C	10	102780422	102780422	T	C	PDZD7	c.881A>G	NM_001195263.2	NP_001182192.1:p.(Tyr294Cys)	NC_000010.10:g.102780422T>C	VUS	1 lab	b52524a0c6
2:167055809 SCN9A C>T	2	167055809	167055809	C	T	SCN9A	c.5307G>A	NM_002977.3	NP_002968.1:p.(Glu1769=)	NC_000002.11:g.167055809C>T	(Likely) benign	1 lab	b525d87669
1:165179982 LMX1A A>T	1	165179982	165179982	A	T	LMX1A	c.701T>A	NM_177398.4	NP_796372.1:p.(Leu234Gln)	NC_000001.10:g.165179982A>T	VUS	1 lab	b526278d58
11:77047278 PAK1 G>C	11	77047278	77047278	G	C	PAK1	c.1266C>G	NM_001128620.2	NP_001122092.1:p.(Ser422Arg)	NC_000011.9:g.77047278G>C	VUS	1 lab	0d46ba8192
12:9002353 A2ML1 G>A	12	9002353	9002353	G	A	A2ML1	c.2117G>A	NM_144670.4	NP_653271.2:p.(Gly706Asp)	NC_000012.11:g.9002353G>A	(Likely) benign	1 lab	b5269afbde
X:24007033 KLHL15 G>A	X	24007033	24007033	G	A	KLHL15				NC_000023.10:g.24007033G>A	VUS	1 lab	b5280ce189
7:143028357 CLCN1 C>T	7	143028357	143028357	C	T	CLCN1	c.1012C>T	NM_000083.3	NP_000074.3:p.(Arg338Ter)	NC_000007.13:g.143028357C>T	(Likely) pathogenic	1 lab	b52b4e898b
3:12627244 RAF1 G>A	3	12627244	12627244	G	A	RAF1	c.1472C>T	NM_002880.3	NP_002871.1:p.(Thr491Ile)	NC_000003.11:g.12627244G>A	(Likely) pathogenic	1 lab	b52b81c561
17:68171326 KCNJ2 A>G	17	68171326	68171326	A	G	KCNJ2	c.146A>G	NM_000891.2	NP_000882.1:p.(Lys49Arg)	NC_000017.10:g.68171326A>G	VUS	1 lab	b52bf97917
1:17359635 SDHB C>A	1	17359635	17359635	C	A	SDHB	c.206G>T	NM_003000.3	NP_002991.2:p.(Gly69Val)	NC_000001.10:g.17359635C>A	(Likely) pathogenic	1 lab	b52df2d054
17:18045038 MYO15A G>A	17	18045038	18045038	G	A	MYO15A	c.5603G>A	NM_016239.4	NP_057323.3:p.(Arg1868His)	NC_000017.10:g.18045038G>A	VUS	1 lab	b52fe4148e
12:48378337 COL2A1 C>G	12	48378337	48378337	C	G	COL2A1				NC_000012.11:g.48378337C>G	(Likely) pathogenic	1 lab	b53007dc15
10:123243266 FGFR2 C>T	10	123243266	123243266	C	T	FGFR2	c.2247G>A	NM_000141.5	NP_000132.3:p.(Thr749=)	NC_000010.10:g.123243266C>T	(Likely) benign	1 lab	0d47a3fe2f
2:179597323 TTN C>T	2	179597323	179597323	C	T	TTN	c.16465G>A	NM_001267550.2	NP_001254479.2:p.(Glu5489Lys)	NC_000002.11:g.179597323C>T	VUS	1 lab	b5359500f1
11:2798256 KCNQ1 G>A	11	2798256	2798256	G	A	KCNQ1	c.1726G>A	NM_000218.2	NP_000209.2:p.(Val576Ile)	NC_000011.9:g.2798256G>A	(Likely) benign	1 lab	b538646f80
6:7727203 BMP6 G>A	6	7727203	7727203	G	A	BMP6	c.15G>A	NM_001718.5	NP_001709.1:p.(Gly5=)	NC_000006.11:g.7727203G>A	VUS	1 lab	c3b0c2bdee
2:227973410 COL4A4 C>A	2	227973410	227973410	C	A	COL4A4	c.694-72G>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227973410C>A	(Likely) benign	1 lab	b53a5f8040
2:227979226 COL4A4 G>T	2	227979226	227979226	G	T	COL4A4	c.558+118C>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227979226G>T	(Likely) benign	1 lab	b53aa45235
6:132190500 ENPP1 A>G	6	132190500	132190500	A	G	ENPP1	c.1276A>G	NM_006208.3	NP_006199.2:p.(Met426Val)	NC_000006.11:g.132190500A>G	VUS	1 lab	0d48fec606
9:98691165 ERCC6L2 A>G	9	98691165	98691165	A	G	ERCC6L2				NC_000009.11:g.98691165A>G	(Likely) benign	1 lab	119632f911
1:1720530 GNB1 T>G	1	1720530	1720530	T	G	GNB1	c.878A>C	NM_002074.5	NP_002065.1:p.(Asn293Thr)	NC_000001.10:g.1720530T>G	VUS	1 lab	b542334e00
11:76903264 MYO7A A>C	11	76903264	76903264	A	C	MYO7A	c.4093A>C	NM_000260.3	NP_000251.3:p.(Asn1365His)	NC_000011.9:g.76903264A>C	VUS	1 lab	b54318fd30
X:128957781 ZDHHC9 G>A	X	128957781	128957781	G	A	ZDHHC9	c.361C>T	NM_016032.4	NP_057116.2:p.(Arg121Ter)	NC_000023.10:g.128957781G>A	(Likely) pathogenic	1 lab	b545039ccf
19:17932190 INSL3 T>C	19	17932190	17932190	T	C	INSL3	c.126A>G	NM_001265587.2	NP_001252516.1:p.(Leu42=)	NC_000019.9:g.17932190T>C	(Likely) benign	1 lab	0d4eb65558
12:132530290 EP400 G>A	12	132530290	132530290	G	A	EP400	c.7045G>A	NM_015409.4	NP_056224.3:p.(Glu2349Lys)	NC_000012.11:g.132530290G>A	VUS	1 lab	b54c647d34
5:112116661 APC C>T	5	112116661	112116661	C	T	APC	c.645+61C>T	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112116661C>T	(Likely) benign	1 lab	b54cedd106
7:66103260 KCTD7 G>A	7	66103260	66103260	G	A	KCTD7	c.335G>A	NM_153033.4	NP_694578.1:p.(Arg112His)	NC_000007.13:g.66103260G>A	VUS	1 lab	b54f692834
2:74143770 ACTG2 G>T	2	74143770	74143770	G	T	ACTG2	c.865G>T	NM_001615.4	NP_001606.1:p.(Asp289Tyr)	NC_000002.11:g.74143770G>T	VUS	1 lab	b551ea3b88
18:28728482 DSC1 C>G	18	28728482	28728482	C	G	DSC1	c.751G>C	NM_004948.3	NP_004939.1:p.(Val251Leu)	NC_000018.9:g.28728482C>G	VUS	1 lab	0d53587060
13:49027250 RB1 A>G	13	49027250	49027250	A	G	RB1	c.1814+3A>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49027250A>G	VUS	1 lab	b554bcd613
7:30671076 GARS1 C>T	7	30671076	30671076	C	T	GARS1	c.1822C>T	NM_002047.2	NP_002038.2:p.(Pro608Ser)	NC_000007.13:g.30671076C>T	VUS	1 lab	b556a4cbaa
10:98146827 TLL2 C>T	10	98146827	98146827	C	T	TLL2	c.1735G>A	NM_012465.3	NP_036597.1:p.(Glu579Lys)	NC_000010.10:g.98146827C>T	VUS	1 lab	b556fd933e
3:38739764 SCN10A G>C	3	38739764	38739764	G	C	SCN10A	c.4947C>G	NM_006514.4	NP_006505.4:p.(Asn1649Lys)	NC_000003.11:g.38739764G>C	VUS	1 lab	b55db73a8a
1:103468756 COL11A1 T>G	1	103468756	103468756	T	G	COL11A1	c.1998+15A>C	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103468756T>G	(Likely) benign	1 lab	b560057193
7:91659305 AKAP9 G>A	7	91659305	91659305	G	A	AKAP9	c.4245G>A	NM_005751.5	NP_005742.4:p.(Glu1415=)	NC_000007.13:g.91659305G>A	VUS	1 lab	b5612de18c
14:24551907 NRL G>A	14	24551907	24551907	G	A	NRL	c.151C>T	NM_006177.3	NP_006168.1:p.(Pro51Ser)	NC_000014.8:g.24551907G>A	(Likely) pathogenic	1 lab	b56226430b
17:41267791 BRCA1 T>C	17	41267791	41267791	T	C	BRCA1	c.86A>G	NM_007294.3	NP_009225.1:p.(Glu29Gly)	NC_000017.10:g.41267791T>C	(Likely) benign	1 lab	b56429432a
9:77397658 TRPM6 G>A	9	77397658	77397658	G	A	TRPM6				NC_000009.11:g.77397658G>A	(Likely) pathogenic	1 lab	b564b95905
17:56774195 RAD51C T>G	17	56774195	56774195	T	G	RAD51C	c.546T>G	NM_058216.3	NP_478123.1:p.(Leu182=)	NC_000017.10:g.56774195T>G	(Likely) benign	1 lab	b5690270e0
2:47657081 MSH2 G>T	2	47657081	47657081	G	T	MSH2				NC_000002.11:g.47657081G>T	(Likely) pathogenic	1 lab	c5178a38e4
5:14690272 OTULIN C>T	5	14690272	14690272	C	T	OTULIN	c.719C>T	NM_138348.6	NP_612357.4:p.(Ala240Val)	NC_000005.9:g.14690272C>T	(Likely) pathogenic	1 lab	b56b7221c6
7:91643610 AKAP9 G>A	7	91643610	91643610	G	A	AKAP9	c.3580G>A	NM_005751.4	NP_005742.4:p.(Ala1194Thr)	NC_000007.13:g.91643610G>A	(Likely) benign	1 lab	b56ce455b2
5:112175613 APC CA>C	5	112175613	112175614	CA	C	APC	c.4323del	NM_000038.6	NP_000029.2:p.(Pro1442LeufsTer31)	NC_000005.9:g.112175614del	(Likely) pathogenic	1 lab	b56fe57acc
5:149776318 TCOF1 G>T	5	149776318	149776318	G	T	TCOF1	c.4255G>T	NM_001135243.1	NP_001128715.1:p.(Glu1419Ter)	NC_000005.9:g.149776318G>T	(Likely) pathogenic	1 lab	b5734ab7d8
2:163144802 IFIH1 AT>A	2	163144802	163144805	AT	A	IFIH1				NC_000002.11:g.163144805del	VUS	1 lab	b65ffb795f
17:33430379 RAD51D G>A	17	33430379	33430379	G	A	RAD51D	c.668-36C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430379G>A	(Likely) benign	1 lab	b575cf33e4
2:32353545 SPAST A>G	2	32353545	32353545	A	G	SPAST	c.1242A>G	NM_014946.3	NP_055761.2:p.(Lys414=)	NC_000002.11:g.32353545A>G	(Likely) pathogenic	1 lab	b57660924d
9:27172750 TEK G>T	9	27172750	27172750	G	T	TEK	c.760+5G>T	NM_000459.4	NP_000450.2:p.?	NC_000009.11:g.27172750G>T	VUS	1 lab	b576dcd3ad
12:112884094 PTPN11 A>G	12	112884094	112884094	A	G	PTPN11	c.29A>G	NM_002834.5	NP_002825.3:p.(Asn10Ser)	NC_000012.11:g.112884094A>G	VUS	1 lab	b578973705
X:99661868 PCDH19 G>T	X	99661868	99661868	G	T	PCDH19	c.1728C>A	NM_001184880.2	NP_001171809.1:p.(Tyr576Ter)	NC_000023.10:g.99661868G>T	(Likely) pathogenic	1 lab	b57f192945
3:121976230 CASR C>G	3	121976230	121976230	C	G	CASR	c.488C>G	NM_001178065.1	NP_001171536.1:p.(Pro163Arg)	NC_000003.11:g.121976230C>G	VUS	1 lab	b584f46e54
11:31824341 PAX6 C>T	11	31824341	31824341	C	T	PAX6	c.52G>A	NM_000280.4	NP_000271.1:p.(Gly18Arg)	NC_000011.9:g.31824341C>T	(Likely) pathogenic	1 lab	b58c04923d
16:23649415 PALB2 G>A	16	23649415	23649415	G	A	PALB2	c.84C>T	NM_024675.4	NP_078951.2:p.(Tyr28=)	NC_000016.9:g.23649415G>A	(Likely) benign	1 lab	b58d15e4ae
19:30193699 C19orf12 CCTCGCTG>C	19	30193699	30193707	CCTCGCTG	C	C19orf12	c.372_378del	NM_001031726.3	NP_001026896.2:p.(Ser125ProfsTer11)	NC_000019.9:g.30193701_30193707del	(Likely) pathogenic	1 lab	b58d23f220
6:35467809 TULP1 G>A	6	35467809	35467809	G	A	TULP1	c.1444C>T	NM_003322.5	NP_003313.3:p.(Arg482Trp)	NC_000006.11:g.35467809G>A	VUS	1 lab	b58d5c02e4
22:19754294 TBX1 G>GGCC	22	19754294	19754308	G	GGCC	TBX1	c.1404_1406dup	NM_080647.1	NP_542378.1:p.(Ala476dup)	NC_000022.10:g.19754306_19754308dup	VUS	1 lab	b58f3615d9
2:47656884 MSH2 GA>G	2	47656884	47656886	GA	G	MSH2	c.1082del	NM_000251.3	NP_000242.1:p.(Asn361IlefsTer2)	NC_000002.11:g.47656886del	(Likely) pathogenic	1 lab	b5935f3954
1:45799197 MUTYH G>T	1	45799197	45799197	G	T	MUTYH	c.236C>A	NM_001128425.1	NP_001121897.1:p.(Ala79Asp)	NC_000001.10:g.45799197G>T	VUS	1 lab	b593d4b5d2
12:108912996 FICD G>A	12	108912996	108912996	G	A	FICD	c.1121G>A	NM_007076.3	NP_009007.2:p.(Arg374His)	NC_000012.11:g.108912996G>A	(Likely) pathogenic	1 lab	b59582a3c8
10:135180494 ECHS1 G>A	10	135180494	135180494	G	A	ECHS1	c.518C>T	NM_004092.3	NP_004083.3:p.(Ala173Val)	NC_000010.10:g.135180494G>A	VUS	1 lab	b595e9dce3
1:3328285 PRDM16 C>T	1	3328285	3328285	C	T	PRDM16	c.1524C>T	NM_022114.3	NP_071397.3:p.(Pro508=)	NC_000001.10:g.3328285C>T	(Likely) benign	1 lab	b599598810
3:189586409 TP63 T>C	3	189586409	189586409	T	C	TP63	c.1033T>C	NM_003722.4	NP_003713.3:p.(Cys345Arg)	NC_000003.11:g.189586409T>C	(Likely) pathogenic	1 lab	b599b40d8b
2:216247033 FN1 G>GT	2	216247033	216247034	G	GT	FN1	c.5065dup	NM_212482.2	NP_997647.1:p.(Thr1689AsnfsTer3)	NC_000002.11:g.216247034dup	VUS	1 lab	b599f0da25
11:118370573 KMT2A G>A	11	118370573	118370573	G	A	KMT2A	c.6103G>A	NM_001197104.1	NP_001184033.1:p.(Gly2035Arg)	NC_000011.9:g.118370573G>A	(Likely) pathogenic	1 lab	b59b6f70af
8:143996598 CYP11B2 G>A	8	143996598	143996598	G	A	CYP11B2	c.459C>T	NM_000498.3	NP_000489.3:p.(Ala153=)	NC_000008.10:g.143996598G>A	(Likely) benign	1 lab	b59deab062
12:52115570 SCN8A T>C	12	52115570	52115570	T	C	SCN8A	c.1876T>C	NM_014191.3	NP_055006.1:p.(Ser626Pro)	NC_000012.11:g.52115570T>C	VUS	1 lab	b5a136f76b
3:38646423 SCN5A C>T	3	38646423	38646423	C	T	SCN5A	c.1339-24G>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38646423C>T	(Likely) benign	1 lab	b5a8248435
X:135112313 SLC9A6 G>T	X	135112313	135112313	G	T	SLC9A6	c.1639G>T	NM_001042537.1	NP_001036002.1:p.(Glu547Ter)	NC_000023.10:g.135112313G>T	(Likely) pathogenic	1 lab	b5ade05da2
4:84194751 COQ2 C>T	4	84194751	84194751	C	T	COQ2	c.590G>A	NM_015697.7	NP_056512.5:p.(Arg197His)	NC_000004.11:g.84194751C>T	(Likely) pathogenic	1 lab	b5af7c844b
3:38962594 SCN11A T>C	3	38962594	38962594	T	C	SCN11A	c.865A>G	NM_014139.2	NP_054858.2:p.(Lys289Glu)	NC_000003.11:g.38962594T>C	(Likely) benign	1 lab	b5b7051b9e
11:19207923 CSRP3 C>T	11	19207923	19207923	C	T	CSRP3	c.282-28G>A	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19207923C>T	(Likely) benign	1 lab	b5b7de1aea
2:48028094 MSH6 C>T	2	48028094	48028094	C	T	MSH6	c.2972C>T	NM_000179.3	NP_000170.1:p.(Pro991Leu)	NC_000002.11:g.48028094C>T	(Likely) pathogenic	1 lab	b5bc4196ec
15:73624616 HCN4 G>A	15	73624616	73624616	G	A	HCN4	c.1227C>T	NM_005477.2	NP_005468.1:p.(Tyr409=)	NC_000015.9:g.73624616G>A	(Likely) benign	1 lab	b5bfcf1b90
16:16267165 ABCC6 T>G	16	16267165	16267165	T	G	ABCC6	c.2763A>C	NM_001171.5	NP_001162.4:p.(Gly921=)	NC_000016.9:g.16267165T>G	(Likely) benign	1 lab	b5c0a1d555
5:33944844 SLC45A2 G>T	5	33944844	33944844	G	T	SLC45A2	c.1502C>A	NM_016180.5	NP_057264.4:p.(Ala501Asp)	NC_000005.9:g.33944844G>T	(Likely) pathogenic	1 lab	b5c0a7053d
14:64547170 SYNE2 C>T	14	64547170	64547170	C	T	SYNE2	c.11164-4C>T	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64547170C>T	(Likely) benign	1 lab	b5c29daba2
2:121726386 GLI2 G>A	2	121726386	121726386	G	A	GLI2	c.740G>A	NM_005270.4	NP_005261.2:p.(Arg247Gln)	NC_000002.11:g.121726386G>A	(Likely) benign	1 lab	b5c2adc55f
2:47657127 MSH2 T>A	2	47657127	47657127	T	A	MSH2	c.1276+47T>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47657127T>A	(Likely) benign	1 lab	b5c4033a46
16:56914137 SLC12A3 C>T	16	56914137	56914137	C	T	SLC12A3	c.1539C>T	NM_000339.2	NP_000330.2:p.(Tyr513=)	NC_000016.9:g.56914137C>T	(Likely) benign	1 lab	b5c9660c5c
7:47930379 PKD1L1 G>C	7	47930379	47930379	G	C	PKD1L1	c.2454-18C>G	NM_138295.4	NP_612152.1:p.?	NC_000007.13:g.47930379G>C	(Likely) benign	1 lab	b5c9a4b930
6:65300716 EYS C>A	6	65300716	65300716	C	A	EYS	c.5044G>T	NM_001142800.1	NP_001136272.1:p.(Asp1682Tyr)	NC_000006.11:g.65300716C>A	(Likely) benign	1 lab	b5ca0eda84
19:47258674 FKRP C>T	19	47258674	47258674	C	T	FKRP	c.-34C>T	NM_024301.4	NP_077277.1:p.?	NC_000019.9:g.47258674C>T	(Likely) benign	1 lab	b5cbb52499
1:94528120 ABCA4 A>C	1	94528120	94528120	A	C	ABCA4	c.1937+13T>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94528120A>C	VUS	1 lab	b5ce13a903
17:42457473 ITGA2B C>T	17	42457473	42457473	C	T	ITGA2B	c.1649G>A	NM_000419.5	NP_000410.2:p.(Arg550Gln)	NC_000017.10:g.42457473C>T	VUS	1 lab	b5d5cce4a6
1:38006359 SNIP1 A>G	1	38006359	38006359	A	G	SNIP1	c.328-3T>C	NM_024700.4	NP_078976.2:p.?	NC_000001.10:g.38006359A>G	(Likely) benign	1 lab	0d646b0452
12:57323195 MISSING C>T	12	57323195	57323195	C	T	MISSING				NC_000012.11:g.57323195C>T	(Likely) pathogenic	1 lab	b5dd4d028c
9:98231429 PTCH1 G>T	9	98231429	98231429	G	T	PTCH1	c.1854C>A	NM_000264.3	NP_000255.2:p.(Cys618Ter)	NC_000009.11:g.98231429G>T	(Likely) pathogenic	1 lab	b5e41642ba
11:64573810 MEN1 C>A	11	64573810	64573810	C	A	MEN1	c.943G>T	NM_130799.2	NP_570711.1:p.(Asp315Tyr)	NC_000011.9:g.64573810C>A	(Likely) pathogenic	1 lab	b5e438276d
6:5431340 FARS2 A>G	6	5431340	5431340	A	G	FARS2	c.839A>G	NM_006567.5	NP_006558.1:p.(Asn280Ser)	NC_000006.11:g.5431340A>G	(Likely) benign	1 lab	0d66d690fa
12:116446528 MED13L G>A	12	116446528	116446528	G	A	MED13L	c.1690C>T	NM_015335.4	NP_056150.1:p.(Arg564Ter)	NC_000012.11:g.116446528G>A	(Likely) pathogenic	1 lab	b5e786a479
8:38110343 DDHD2 G>A	8	38110343	38110343	G	A	DDHD2	c.1720+1G>A	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38110343G>A	(Likely) pathogenic	1 lab	b5e84b2d49
11:76883840 MYO7A A>G	11	76883840	76883840	A	G	MYO7A	c.1844A>G	NM_000260.3	NP_000251.3:p.(Lys615Arg)	NC_000011.9:g.76883840A>G	(Likely) benign	1 lab	b5e8b02313
X:111195435 TRPC5 T>C	X	111195435	111195435	T	C	TRPC5	c.214A>G	NM_012471.2	NP_036603.1:p.(Ser72Gly)	NC_000023.10:g.111195435T>C	VUS	1 lab	b5eb97f69e
14:23858082 MYH6 C>A	14	23858082	23858082	C	A	MYH6	c.4161G>T	NM_002471.3	NP_002462.2:p.(Glu1387Asp)	NC_000014.8:g.23858082C>A	VUS	1 lab	11a1692384
1:16270888 ZBTB17 G>A	1	16270888	16270888	G	A	ZBTB17	c.1278C>T	NM_001287603.1	NP_001274532.1:p.(Ser426=)	NC_000001.10:g.16270888G>A	(Likely) benign	1 lab	b5f1b1b175
5:171809041 SH3PXD2B C>A	5	171809041	171809041	C	A	SH3PXD2B				NC_000005.9:g.171809041C>A	(Likely) pathogenic	1 lab	b6b7ff6fd0
2:48026876 MSH6 T>C	2	48026876	48026876	T	C	MSH6	c.1754T>C	NM_000179.3	NP_000170.1:p.(Leu585Pro)	NC_000002.11:g.48026876T>C	(Likely) pathogenic	1 lab	b5f31aad44
1:196963265 CFHR5 A>G	1	196963265	196963265	A	G	CFHR5				NC_000001.10:g.196963265A>G	VUS	1 lab	b5fa209dd0
2:47639559 MSH2 C>T	2	47639559	47639559	C	T	MSH2				NC_000002.11:g.47639559C>T	(Likely) pathogenic	1 lab	b5fa5fa43e
7:2979439 CARD11 C>G	7	2979439	2979439	C	G	CARD11	c.808G>C	NM_032415.5	NP_115791.3:p.(Glu270Gln)	NC_000007.13:g.2979439C>G	VUS	1 lab	b5fd2d6ee7
17:42962623 EFTUD2 C>T	17	42962623	42962623	C	T	EFTUD2	c.350+1G>A	NM_001258353.1	NP_001245282.1:p.?	NC_000017.10:g.42962623C>T	(Likely) pathogenic	1 lab	b5ff67e872
16:31012276 STX1B C>A	16	31012276	31012276	C	A	STX1B	c.253G>T	NM_052874.5	NP_443106.1:p.(Ala85Ser)	NC_000016.9:g.31012276C>A	VUS	1 lab	0d6814462d
1:223940666 CAPN2 C>G	1	223940666	223940666	C	G	CAPN2	c.1135+8C>G	NM_001748.5	NP_001739.3:p.?	NC_000001.10:g.223940666C>G	(Likely) benign	1 lab	11a1735af8
11:117857190 IL10RA C>A	11	117857190	117857190	C	A	IL10RA	c.8C>A	NM_001558.3	NP_001549.2:p.(Pro3Gln)	NC_000011.9:g.117857190C>A	(Likely) benign	1 lab	11a29afd33
6:50791592 TFAP2B A>G	6	50791592	50791592	A	G	TFAP2B	c.540+14A>G	NM_003221.3	NP_003212.2:p.?	NC_000006.11:g.50791592A>G	(Likely) benign	1 lab	b60415170d
14:23871689 MYH6 C>A	14	23871689	23871689	C	A	MYH6	c.1125G>T	NM_002471.3	NP_002462.2:p.(Glu375Asp)	NC_000014.8:g.23871689C>A	VUS	1 lab	b6092e1b0b
11:47354526 MYBPC3 T>G	11	47354526	47354526	T	G	MYBPC3	c.3331-2A>C	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47354526T>G	VUS	1 lab	b6099a8daa
20:62038442 KCNQ2 C>T	20	62038442	62038442	C	T	KCNQ2	c.2174G>A	NM_172107.2	NP_742105.1:p.(Arg725His)	NC_000020.10:g.62038442C>T	VUS	1 lab	b60a089c9f
20:42744499 JPH2 C>CT	20	42744499	42744500	C	CT	JPH2	c.1815_1816insA	NM_020433.4	NP_065166.2:p.(Ala606SerfsTer36)	NC_000020.10:g.42744499_42744500insT	(Likely) pathogenic	1 lab	b60daa3b23
1:181725132 CACNA1E A>G	1	181725132	181725132	A	G	CACNA1E	c.4030A>G	NM_001205293.3	NP_001192222.1:p.(Lys1344Glu)	NC_000001.10:g.181725132A>G	VUS	1 lab	b60fc2004b
15:41865534 TYRO3 G>A	15	41865534	41865534	G	A	TYRO3	c.2014G>A	NM_006293.3	NP_006284.2:p.(Ala672Thr)	NC_000015.9:g.41865534G>A	VUS	1 lab	b610a4eea1
16:70301628 AARS G>C	16	70301628	70301628	G	C	AARS				NC_000016.9:g.70301628G>C	VUS	1 lab	b611342f30
17:56052176 VEZF1 CG>C	17	56052176	56052177	CG	C	VEZF1	c.1223del	NM_007146.3	NP_009077.2:p.(Ser408CysfsTer15)	NC_000017.10:g.56052177del	VUS	1 lab	b613025891
10:94366478 KIF11 G>T	10	94366478	94366478	G	T	KIF11	c.308+5G>T	NM_004523.3	NP_004514.2:p.?	NC_000010.10:g.94366478G>T	(Likely) pathogenic	1 lab	b6149d1421
10:102768613 PDZD7 G>C	10	102768613	102768613	G	C	PDZD7	c.2719-6C>G	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102768613G>C	VUS	1 lab	b615cf5fda
14:102446777 DYNC1H1 C>T	14	102446777	102446777	C	T	DYNC1H1	c.851C>T	NM_001376.4	NP_001367.2:p.(Ala284Val)	NC_000014.8:g.102446777C>T	(Likely) benign	1 lab	b6164d6f89
13:32889775 BRCA2 G>A	13	32889775	32889775	G	A	BRCA2	c.-69G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889775G>A	(Likely) benign	1 lab	b619697b3b
2:220285715 DES G>A	2	220285715	220285715	G	A	DES	c.1023+40G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220285715G>A	(Likely) benign	1 lab	b61ae0a9d0
10:90698003 ACTA2 G>C	10	90698003	90698003	G	C	ACTA2	c.809-4C>G	NM_001141945.1	NP_001135417.1:p.?	NC_000010.10:g.90698003G>C	(Likely) benign	1 lab	b61b19fc73
16:30734282 SRCAP A>G	16	30734282	30734282	A	G	SRCAP	c.3893-2A>G	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30734282A>G	(Likely) pathogenic	1 lab	b61e41a7eb
2:45169768 SIX3 G>A	2	45169768	45169768	G	A	SIX3	c.525G>A	NM_005413.3	NP_005404.1:p.(Gln175=)	NC_000002.11:g.45169768G>A	(Likely) benign	1 lab	b61edf3e9f
15:31197564 FAN1 G>A	15	31197564	31197564	G	A	FAN1	c.698G>A	NM_014967.4	NP_055782.3:p.(Gly233Glu)	NC_000015.9:g.31197564G>A	(Likely) benign	1 lab	b6258c3a5f
1:110173396 AMPD2 T>TATGA	1	110173396	110173397	T	TATGA	AMPD2				NC_000001.10:g.110173396_110173397insATGA	(Likely) pathogenic	1 lab	b626406b98
1:94486880 ABCA4 T>G	1	94486880	94486880	T	G	ABCA4	c.4934A>C	NM_000350.3	NP_000341.2:p.(Lys1645Thr)	NC_000001.10:g.94486880T>G	(Likely) benign	1 lab	b62724047b
12:23716260 SOX5 G>A	12	23716260	23716260	G	A	SOX5	c.1420C>T	NM_006940.6	NP_008871.3:p.(Gln474Ter)	NC_000012.11:g.23716260G>A	(Likely) pathogenic	1 lab	b629a1b1c1
22:37462912 TMPRSS6 C>T	22	37462912	37462912	C	T	TMPRSS6	c.2231G>A	NM_153609.3	NP_705837.1:p.(Arg744His)	NC_000022.10:g.37462912C>T	VUS	1 lab	b629d51705
3:50355718 HYAL2 G>A	3	50355718	50355718	G	A	HYAL2	c.1264C>T	NM_033158.5	NP_149348.2:p.(Gln422Ter)	NC_000003.11:g.50355718G>A	VUS	1 lab	0d6a78bd45
X:47466538 SYN1 A>G	X	47466538	47466538	A	G	SYN1	c.435+2T>C	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47466538A>G	(Likely) pathogenic	1 lab	b62d32f3a4
9:129455868 LMX1B C>A	9	129455868	129455868	C	A	LMX1B	c.807C>A	NM_002316.3	NP_002307.2:p.(Asn269Lys)	NC_000009.11:g.129455868C>A	(Likely) pathogenic	1 lab	b62def342d
12:57957448 KIF5A C>T	12	57957448	57957448	C	T	KIF5A	c.263C>T	NM_004984.4	NP_004975.2:p.(Thr88Ile)	NC_000012.11:g.57957448C>T	(Likely) pathogenic	1 lab	0d6d1ec67f
2:167266457 SCN7A A>G	2	167266457	167266457	A	G	SCN7A	c.3712-12T>C	NM_002976.3	NP_002967.2:p.?	NC_000002.11:g.167266457A>G	(Likely) benign	1 lab	b62efd9f9b
7:1542585 INTS1 G>A	7	1542585	1542585	G	A	INTS1	c.301C>T	NM_001080453.2	NP_001073922.2:p.(Arg101Ter)	NC_000007.13:g.1542585G>A	(Likely) pathogenic	1 lab	b632ab16e7
3:169482792 TERC AGTT>A	3	169482792	169482795	AGTT	A	TERC	n.54_56del	NR_001566.1		NC_000003.11:g.169482793_169482795del	(Likely) pathogenic	1 lab	b63305ae74
17:62043560 SCN4A G>T	17	62043560	62043560	G	T	SCN4A	c.1144C>A	NM_000334.4	NP_000325.4:p.(Pro382Thr)	NC_000017.10:g.62043560G>T	(Likely) pathogenic	1 lab	b638eff3be
2:179465987 TTN C>G	2	179465987	179465987	C	G	TTN	c.48028+5G>C	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179465987C>G	(Likely) pathogenic	1 lab	b639ae8b86
11:120355230 ARHGEF12 A>G	11	120355230	120355230	A	G	ARHGEF12	c.4624+14A>G	NM_015313.3	NP_056128.1:p.?	NC_000011.9:g.120355230A>G	(Likely) benign	1 lab	0d7202361b
17:41249266 BRCA1 A>G	17	41249266	41249266	A	G	BRCA1	c.588T>C	NM_007294.3	NP_009225.1:p.(Tyr196=)	NC_000017.10:g.41249266A>G	(Likely) benign	1 lab	b63c664369
16:2223484 TRAF7 G>T	16	2223484	2223484	G	T	TRAF7	c.1015G>T	NM_032271.3	NP_115647.2:p.(Val339Phe)	NC_000016.9:g.2223484G>T	(Likely) pathogenic	1 lab	b63d3b78ee
13:32906894 BRCA2 G>C	13	32906894	32906894	G	C	BRCA2				NC_000013.10:g.32906894G>C	VUS	1 lab	b63e48d821
11:67377948 NDUFV1 G>A	11	67377948	67377948	G	A	NDUFV1	c.607G>A	NM_007103.4	NP_009034.2:p.(Ala203Thr)	NC_000011.9:g.67377948G>A	(Likely) pathogenic	1 lab	b63e905887
4:77662790 SHROOM3 T>C	4	77662790	77662790	T	C	SHROOM3	c.3464T>C	NM_020859.3	NP_065910.3:p.(Leu1155Pro)	NC_000004.11:g.77662790T>C	(Likely) benign	1 lab	b63f29287c
8:61761608 CHD7 A>G	8	61761608	61761608	A	G	CHD7				NC_000008.10:g.61761608A>G	(Likely) pathogenic	1 lab	b641647e65
11:77812190 ALG8 C>A	11	77812190	77812190	C	A	ALG8	c.1401G>T	NM_024079.5	NP_076984.2:p.(Leu467=)	NC_000011.9:g.77812190C>A	(Likely) benign	1 lab	0d762e60f4
11:118348798 KMT2A C>T	11	118348798	118348798	C	T	KMT2A	c.3451C>T	NM_001197104.1	NP_001184033.1:p.(Arg1151Ter)	NC_000011.9:g.118348798C>T	(Likely) pathogenic	1 lab	b644d9c135
16:2819183 SRRM2 C>T	16	2819183	2819183	C	T	SRRM2	c.7919C>T	NM_016333.4	NP_057417.3:p.(Ser2640Phe)	NC_000016.9:g.2819183C>T	VUS	1 lab	0d76b82af4
16:67690372 CARMIL2 C>A	16	67690372	67690372	C	A	CARMIL2	c.3860C>A	NM_001013838.3	NP_001013860.1:p.(Ala1287Asp)	NC_000016.9:g.67690372C>A	(Likely) benign	1 lab	11a63042b9
X:107816767 COL4A5 A>T	X	107816767	107816767	A	T	COL4A5	c.466-37A>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107816767A>T	(Likely) benign	1 lab	b64782279b
X:38146029 RPGR C>T	X	38146029	38146029	C	T	RPGR	c.2223G>A	NM_001034853.1	NP_001030025.1:p.(Glu741=)	NC_000023.10:g.38146029C>T	(Likely) benign	1 lab	b64dd239ff
16:56868107 NUP93 C>T	16	56868107	56868107	C	T	NUP93	c.1605C>T	NM_014669.5	NP_055484.3:p.(Tyr535=)	NC_000016.9:g.56868107C>T	(Likely) benign	1 lab	11aa10b522
4:3494600 DOK7 A>G	4	3494600	3494600	A	G	DOK7	c.887A>G	NM_173660.4	NP_775931.3:p.(Gln296Arg)	NC_000004.11:g.3494600A>G	(Likely) benign	1 lab	b64ea872be
16:15141888 MISSING C>A	16	15141888	15141888	C	A	MISSING				NC_000016.9:g.15141888C>A	VUS	1 lab	b64fe993b5
15:76603723 ETFA G>A	15	76603723	76603723	G	A	ETFA	c.7C>T	NM_000126.3	NP_000117.1:p.(Arg3Ter)	NC_000015.9:g.76603723G>A	(Likely) pathogenic	1 lab	b6524d8a1e
5:14713746 ANKH A>G	5	14713746	14713746	A	G	ANKH	c.1172T>C	NM_054027.4	NP_473368.1:p.(Leu391Pro)	NC_000005.9:g.14713746A>G	(Likely) pathogenic	1 lab	b654d33d0e
5:180055897 FLT4 G>A	5	180055897	180055897	G	A	FLT4	c.1088C>T	NM_182925.4	NP_891555.2:p.(Pro363Leu)	NC_000005.9:g.180055897G>A	(Likely) benign	1 lab	b656e7c086
20:10620372 JAG1 G>T	20	10620372	10620372	G	T	JAG1	c.3431C>A	NM_000214.2	NP_000205.1:p.(Ser1144Tyr)	NC_000020.10:g.10620372G>T	(Likely) benign	1 lab	b6580c0c5e
1:236912522 ACTN2 T>C	1	236912522	236912522	T	C	ACTN2	c.1614T>C	NM_001103.4	NP_001094.1:p.(Asp538=)	NC_000001.10:g.236912522T>C	(Likely) benign	1 lab	b65c65c83c
9:101569985 GALNT12 G>A	9	101569985	101569985	G	A	GALNT12	c.5G>A	NM_024642.4	NP_078918.3:p.(Trp2Ter)	NC_000009.11:g.101569985G>A	VUS	1 lab	b6628a3c1f
5:149506161 PDGFRB C>T	5	149506161	149506161	C	T	PDGFRB	c.1596G>A	NM_002609.4	NP_002600.1:p.(Val532=)	NC_000005.9:g.149506161C>T	VUS	1 lab	b665d0f2e4
19:33360652 SLC7A9 A>T	19	33360652	33360652	A	T	SLC7A9	c.-172T>A	NM_014270.4	NP_055085.1:p.?	NC_000019.9:g.33360652A>T	(Likely) benign	1 lab	b6663a251e
17:29654589 NF1 GACATTT>G	17	29654589	29654596	GACATTT	G	NF1	c.5343_5348del	NM_001042492.3	NP_001035957.1:p.(Ile1782_Tyr1783del)	NC_000017.10:g.29654591_29654596del	VUS	1 lab	b66679e11a
16:3299544 MEFV G>T	16	3299544	3299544	G	T	MEFV	c.1147C>A	NM_000243.2	NP_000234.1:p.(Gln383Lys)	NC_000016.9:g.3299544G>T	VUS	1 lab	11ab679719
2:74785979 M1AP C>T	2	74785979	74785979	C	T	M1AP	c.1457G>A	NM_138804.5	NP_620159.2:p.(Arg486Gln)	NC_000002.11:g.74785979C>T	VUS	1 lab	0d7a2e9b69
14:31535526 AP4S1 C>T	14	31535526	31535526	C	T	AP4S1	c.124C>T	NM_007077.4	NP_009008.2:p.(Arg42Ter)	NC_000014.8:g.31535526C>T	(Likely) pathogenic	1 lab	b669fd5395
6:30997239 MUC22 G>A	6	30997239	30997239	G	A	MUC22	c.4031G>A	NM_001198815.1	NP_001185744.1:p.(Gly1344Glu)	NC_000006.11:g.30997239G>A	(Likely) benign	1 lab	11b26528a1
17:72764388 NHERF1 T>C	17	72764388	72764388	T	C	NHERF1	c.888+13T>C	NM_004252.5	NP_004243.1:p.?	NC_000017.10:g.72764388T>C	(Likely) benign	1 lab	11b27b2eda
11:118038923 SCN2B C>T	11	118038923	118038923	C	T	SCN2B	c.325G>A	NM_004588.4	NP_004579.1:p.(Asp109Asn)	NC_000011.9:g.118038923C>T	VUS	1 lab	b670dd4706
16:75513496 CHST6 C>T	16	75513496	75513496	C	T	CHST6	c.231G>A	NM_021615.4	NP_067628.1:p.(Trp77Ter)	NC_000016.9:g.75513496C>T	(Likely) pathogenic	1 lab	b6713df52c
12:6105397 VWF A>T	12	6105397	6105397	A	T	VWF	c.5843-9T>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6105397A>T	(Likely) benign	1 lab	b6742f1325
18:32395857 DTNA G>T	18	32395857	32395857	G	T	DTNA	c.604-16G>T	NM_001390.4	NP_001381.2:p.?	NC_000018.9:g.32395857G>T	(Likely) benign	1 lab	b674573e88
X:43639638 MAOB T>G	X	43639638	43639638	T	G	MAOB	c.1030A>C	NM_000898.5	NP_000889.3:p.(Ile344Leu)	NC_000023.10:g.43639638T>G	VUS	1 lab	b67488415e
13:100637895 ZIC2 C>G	13	100637895	100637895	C	G	ZIC2	c.1558C>G	NM_007129.5	NP_009060.2:p.(His520Asp)	NC_000013.10:g.100637895C>G	VUS	1 lab	0d7ff6a302
2:86479287 REEP1 G>T	2	86479287	86479287	G	T	REEP1	c.304-94C>A	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86479287G>T	(Likely) benign	1 lab	b67986b669
6:3225505 TUBB2B A>C	6	3225505	3225505	A	C	TUBB2B	c.818T>G	NM_178012.4	NP_821080.1:p.(Leu273Arg)	NC_000006.11:g.3225505A>C	(Likely) pathogenic	1 lab	b6799a0341
15:31320620 TRPM1 C>T	15	31320620	31320620	C	T	TRPM1	c.3142G>A	NM_002420.5	NP_002411.3:p.(Gly1048Ser)	NC_000015.9:g.31320620C>T	VUS	1 lab	b67a41c2e6
4:123132188 BLTP1 C>A	4	123132188	123132188	C	A	BLTP1	c.2185C>A	NM_015312.4	NP_056127.2:p.(Leu729Ile)	NC_000004.11:g.123132188C>A	VUS	1 lab	0d83a1eb5f
15:93541759 CHD2 C>T	15	93541759	93541759	C	T	CHD2	c.3916C>T	NM_001271.4	NP_001262.3:p.(Gln1306Ter)	NC_000015.9:g.93541759C>T	(Likely) pathogenic	1 lab	b685600527
19:17940987 JAK3 G>A	19	17940987	17940987	G	A	JAK3	c.3137C>T	NM_000215.3	NP_000206.2:p.(Ala1046Val)	NC_000019.9:g.17940987G>A	VUS	1 lab	b6881a5d0a
6:32725620 HLA-DQB2 G>A	6	32725620	32725620	G	A	HLA-DQB2	c.647-539C>T	NM_001198858.2	NP_001185787.1:p.?	NC_000006.11:g.32725620G>A	(Likely) benign	1 lab	0d8863169c
2:219678915 CYP27A1 G>C	2	219678915	219678915	G	C	CYP27A1	c.1184+5G>C	NM_000784.3	NP_000775.1:p.?	NC_000002.11:g.219678915G>C	VUS	1 lab	b68dcbe71d
6:10404742 TFAP2A T>C	6	10404742	10404742	T	C	TFAP2A	c.763A>G	NM_003220.2	NP_003211.1:p.(Arg255Gly)	NC_000006.11:g.10404742T>C	(Likely) pathogenic	1 lab	b69271af20
17:4837662 GP1BA T>C	17	4837662	4837662	T	C	GP1BA	c.1763T>C	NM_000173.7	NP_000164.5:p.(Val588Ala)	NC_000017.10:g.4837662T>C	VUS	1 lab	b695405707
15:35085660 ACTC1 G>A	15	35085660	35085660	G	A	ACTC1	c.240C>T	NM_005159.4	NP_005150.1:p.(Asn80=)	NC_000015.9:g.35085660G>A	(Likely) benign	1 lab	b6958790ce
2:228145216 COL4A3 G>C	2	228145216	228145216	G	C	COL4A3	c.2284G>C	NM_000091.4	NP_000082.2:p.(Gly762Arg)	NC_000002.11:g.228145216G>C	(Likely) benign	1 lab	b69c71568b
2:179407828 TTN GTC>G	2	179407828	179407835	GTC	G	TTN	c.89166_89167del	NM_133378.4	NP_596869.4:p.(Glu29722AspfsTer56)	NC_000002.11:g.179407834_179407835del	(Likely) pathogenic	1 lab	b69ff7855f
12:52180553 SCN8A G>T	12	52180553	52180553	G	T	SCN8A	c.4170G>T	NM_014191.3	NP_055006.1:p.(Lys1390Asn)	NC_000012.11:g.52180553G>T	VUS	1 lab	b69ff80e08
17:79477824 ACTG1 C>A	17	79477824	79477824	C	A	ACTG1	c.1020G>T	NM_001614.3	NP_001605.1:p.(Trp340Cys)	NC_000017.10:g.79477824C>A	(Likely) pathogenic	1 lab	b6a09e964e
22:29121028 CHEK2 TC>T	22	29121028	29121031	TC	T	CHEK2	c.528del	NM_007194.4	NP_009125.1:p.(Gly178GlufsTer6)	NC_000022.10:g.29121031del	(Likely) pathogenic	1 lab	b6a17a9e97
8:61765760 CHD7 C>G	8	61765760	61765760	C	G	CHD7	c.6476C>G	NM_017780.3	NP_060250.2:p.(Ser2159Cys)	NC_000008.10:g.61765760C>G	VUS	1 lab	b6a46194bc
12:49437399 KMT2D T>G	12	49437399	49437399	T	G	KMT2D	c.5467+19A>C	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49437399T>G	(Likely) benign	1 lab	b6a5f8c92b
7:91715006 AKAP9 C>A	7	91715006	91715006	C	A	AKAP9	c.9024+6C>A	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91715006C>A	(Likely) benign	1 lab	b6a99f3a1a
9:130588349 ENG A>C	9	130588349	130588349	A	C	ENG	c.524-210T>G	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130588349A>C	(Likely) pathogenic	1 lab	0d897961a7
6:66094399 EYS A>C	6	66094399	66094399	A	C	EYS	c.1185-6T>G	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66094399A>C	VUS	1 lab	b6af21ebe5
14:105180465 INF2 G>A	14	105180465	105180465	G	A	INF2	c.3041-75G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105180465G>A	(Likely) benign	1 lab	11b694ef3d
7:140550024 BRAF T>G	7	140550024	140550024	T	G	BRAF	c.139-12A>C	NM_004333.4	NP_004324.2:p.?	NC_000007.13:g.140550024T>G	(Likely) benign	1 lab	b6b0a22f1b
1:216465702 USH2A C>G	1	216465702	216465702	C	G	USH2A	c.1655G>C	NM_206933.2	NP_996816.2:p.(Cys552Ser)	NC_000001.10:g.216465702C>G	VUS	1 lab	b6b2a05a01
16:89349490 ANKRD11 C>A	16	89349490	89349490	C	A	ANKRD11	c.3460G>T	NM_001256182.1	NP_001243111.1:p.(Glu1154Ter)	NC_000016.9:g.89349490C>A	(Likely) pathogenic	1 lab	b6b4787086
2:74777350 LOXL3 G>A	2	74777350	74777350	G	A	LOXL3	c.439C>T	NM_032603.5	NP_115992.1:p.(Gln147Ter)	NC_000002.11:g.74777350G>A	(Likely) pathogenic	1 lab	b6b5d0bff9
10:64974785 JMJD1C G>A	10	64974785	64974785	G	A	JMJD1C	c.1142C>T	NM_032776.3	NP_116165.1:p.(Ser381Leu)	NC_000010.10:g.64974785G>A	VUS	1 lab	0d8c9f5a3d
11:108186625 ATM C>T	11	108186625	108186625	C	T	ATM	c.6082C>T	NM_000051.3	NP_000042.3:p.(Gln2028Ter)	NC_000011.9:g.108186625C>T	(Likely) pathogenic	1 lab	b6bf8b1e36
2:136608466 MCM6 C>A	2	136608466	136608466	C	A	MCM6	c.1917+506G>T	NM_005915.5	NP_005906.2:p.?	NC_000002.11:g.136608466C>A	(Likely) benign	1 lab	b6cf4c9612
X:153220558 HCFC1 T>C	X	153220558	153220558	T	C	HCFC1				NC_000023.10:g.153220558T>C	VUS	1 lab	b6cfa2661b
13:32971030 BRCA2 C>G	13	32971030	32971030	C	G	BRCA2	c.9502-5C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32971030C>G	(Likely) benign	1 lab	b6d89f12c1
4:186423397 PDLIM3 G>A	4	186423397	186423397	G	A	PDLIM3				NC_000004.11:g.186423397G>A	VUS	1 lab	b6dc90ec51
9:35802802 NPR2 T>A	9	35802802	35802802	T	A	NPR2	c.1887+2T>A	NM_003995.3	NP_003986.2:p.?	NC_000009.11:g.35802802T>A	(Likely) pathogenic	1 lab	b6dcc6a0a0
16:2166892 PKD1 C>T	16	2166892	2166892	C	T	PKD1	c.1548G>A	NM_001009944.3	NP_001009944.3:p.(Trp516Ter)	NC_000016.9:g.2166892C>T	(Likely) pathogenic	1 lab	b6e26b04aa
7:73097186 DNAJC30 G>A	7	73097186	73097186	G	A	DNAJC30	c.568C>T	NM_032317.3	NP_115693.2:p.(Arg190Cys)	NC_000007.13:g.73097186G>A	VUS	1 lab	b6e41b4220
5:160886715 GABRB2 C>T	5	160886715	160886715	C	T	GABRB2	c.373G>A	NM_021911.2	NP_068711.1:p.(Asp125Asn)	NC_000005.9:g.160886715C>T	(Likely) pathogenic	1 lab	b6e53fec82
X:109459844 AMMECR1 G>A	X	109459844	109459844	G	A	AMMECR1	c.601C>T	NM_015365.3	NP_056180.1:p.(Arg201Cys)	NC_000023.10:g.109459844G>A	VUS	1 lab	b6e5fb4d73
2:47639541 MSH2 C>G	2	47639541	47639541	C	G	MSH2	c.646-12C>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47639541C>G	(Likely) benign	1 lab	b6e78ac6e6
2:48030796 MSH6 T>C	2	48030796	48030796	T	C	MSH6	c.3410T>C	NM_000179.3	NP_000170.1:p.(Met1137Thr)	NC_000002.11:g.48030796T>C	VUS	1 lab	b6ea918b48
12:22017382 ABCC9 G>T	12	22017382	22017382	G	T	ABCC9	c.2228C>A	NM_005691.4	NP_005682.2:p.(Ala743Glu)	NC_000012.11:g.22017382G>T	VUS	1 lab	0d94706fc2
5:65321681 ERBIN T>C	5	65321681	65321681	T	C	ERBIN	c.896T>C	NM_001253697.2	NP_001240626.1:p.(Ile299Thr)	NC_000005.9:g.65321681T>C	(Likely) benign	1 lab	35050dee59
1:210857005 KCNH1 G>T	1	210857005	210857005	G	T	KCNH1	c.2588C>A	NM_172362.2	NP_758872.1:p.(Pro863His)	NC_000001.10:g.210857005G>T	VUS	1 lab	b6f0a66475
2:131356237 CFC1 G>T	2	131356237	131356237	G	T	CFC1	c.225C>A	NM_032545.3	NP_115934.1:p.(Pro75=)	NC_000002.11:g.131356237G>T	(Likely) benign	1 lab	b6f5ca7265
2:167129103 SCN9A G>A	2	167129103	167129103	G	A	SCN9A	c.3157C>T	NM_001365536.1	NP_001352465.1:p.(Leu1053Phe)	NC_000002.11:g.167129103G>A	(Likely) benign	1 lab	b6f6279ab7
4:114288871 ANK2 G>A	4	114288871	114288871	G	A	ANK2	c.11182G>A	NM_001148.4	NP_001139.3:p.(Val3728Ile)	NC_000004.11:g.114288871G>A	(Likely) benign	1 lab	b6f6b5a6ed
19:7619522 PNPLA6 G>A	19	7619522	7619522	G	A	PNPLA6				NC_000019.9:g.7619522G>A	(Likely) benign	1 lab	b72dae5052
11:61541547 MYRF C>T	11	61541547	61541547	C	T	MYRF	c.1224C>T	NM_001127392.3	NP_001120864.1:p.(Ile408=)	NC_000011.9:g.61541547C>T	(Likely) benign	1 lab	0d9a978144
3:38748899 SCN10A T>C	3	38748899	38748899	T	C	SCN10A	c.4282-25A>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38748899T>C	VUS	1 lab	b6f82f6c8b
5:112174724 APC G>T	5	112174724	112174724	G	T	APC	c.3433G>T	NM_000038.6	NP_000029.2:p.(Glu1145Ter)	NC_000005.9:g.112174724G>T	(Likely) pathogenic	1 lab	b6f89fdecd
2:179655502 TTN T>C	2	179655502	179655502	T	C	TTN	c.1733A>G	NM_001267550.2	NP_001254479.2:p.(Glu578Gly)	NC_000002.11:g.179655502T>C	VUS	1 lab	b6fa0b363e
2:152425128 NEB T>G	2	152425128	152425128	T	G	NEB	c.17634+4A>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152425128T>G	VUS	1 lab	b6fbac09cd
2:179516910 TTN T>A	2	179516910	179516910	T	A	TTN	c.39212-4A>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179516910T>A	(Likely) benign	1 lab	b6fe70d36c
4:151504749 MAB21L2 C>A	4	151504749	151504749	C	A	MAB21L2	c.568C>A	NM_006439.5	NP_006430.1:p.(Pro190Thr)	NC_000004.11:g.151504749C>A	VUS	1 lab	0d9bba5f51
3:38671883 SCN5A C>T	3	38671883	38671883	C	T	SCN5A	c.311G>A	NM_198056.3	NP_932173.1:p.(Arg104Gln)	NC_000003.11:g.38671883C>T	(Likely) pathogenic	1 lab	b702659532
7:97482449 ASNS T>C	7	97482449	97482449	T	C	ASNS	c.1399A>G	NM_133436.3	NP_597680.2:p.(Lys467Glu)	NC_000007.13:g.97482449T>C	VUS	1 lab	b70942e737
16:2162979 PKD1 G>A	16	2162979	2162979	G	A	PKD1	c.2986-15C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2162979G>A	(Likely) benign	1 lab	b70b651cf3
4:186425696 PDLIM3 T>G	4	186425696	186425696	T	G	PDLIM3	c.838A>C	NM_014476.6	NP_055291.2:p.(Lys280Gln)	NC_000004.11:g.186425696T>G	VUS	1 lab	11b7664922
6:10404747 TFAP2A A>G	6	10404747	10404747	A	G	TFAP2A	c.758T>C	NM_003220.2	NP_003211.1:p.(Leu253Pro)	NC_000006.11:g.10404747A>G	(Likely) pathogenic	1 lab	b70d0cdf0e
4:79207784 FRAS1 G>T	4	79207784	79207784	G	T	FRAS1	c.1534+91G>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79207784G>T	(Likely) benign	1 lab	11b9011a0f
7:91643565 AKAP9 G>A	7	91643565	91643565	G	A	AKAP9	c.3535G>A	NM_005751.4	NP_005742.4:p.(Asp1179Asn)	NC_000007.13:g.91643565G>A	(Likely) benign	1 lab	b70d6e3661
1:94480146 ABCA4 T>C	1	94480146	94480146	T	C	ABCA4	c.5413A>G	NM_000350.2	NP_000341.2:p.(Asn1805Asp)	NC_000001.10:g.94480146T>C	VUS	1 lab	b70eb464e6
4:153244136 FBXW7 C>G	4	153244136	153244136	C	G	FBXW7	c.2021G>C	NM_001349798.2	NP_001336727.1:p.(Arg674Pro)	NC_000004.11:g.153244136C>G	(Likely) pathogenic	1 lab	b70ec785a9
2:227906915 COL4A4 G>A	2	227906915	227906915	G	A	COL4A4	c.3454C>T	NM_000092.4	NP_000083.3:p.(Pro1152Ser)	NC_000002.11:g.227906915G>A	(Likely) benign	1 lab	b71027bb7e
15:38614569 SPRED1 T>C	15	38614569	38614569	T	C	SPRED1	c.335T>C	NM_152594.2	NP_689807.1:p.(Phe112Ser)	NC_000015.9:g.38614569T>C	(Likely) pathogenic	1 lab	b715c83ca7
4:128865087 MFSD8 G>A	4	128865087	128865087	G	A	MFSD8	c.259C>T	NM_152778.4	NP_689991.1:p.(Gln87Ter)	NC_000004.11:g.128865087G>A	(Likely) pathogenic	1 lab	b7190f6149
7:24758683 GSDME G>A	7	24758683	24758683	G	A	GSDME	c.559C>T	NM_004403.2	NP_004394.1:p.(Gln187Ter)	NC_000007.13:g.24758683G>A	(Likely) benign	1 lab	b71da723f5
2:179529467 TTN T>G	2	179529467	179529467	T	G	TTN	c.36119-3A>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529467T>G	(Likely) benign	1 lab	b7203b8aa1
17:41249297 BRCA1 G>C	17	41249297	41249297	G	C	BRCA1	c.557C>G	NM_007294.4	NP_009225.1:p.(Ser186Cys)	NC_000017.10:g.41249297G>C	(Likely) benign	1 lab	b726decc87
2:228141106 COL4A3 A>AG	2	228141106	228141110	A	AG	COL4A3	c.1937dup	NM_000091.4	NP_000082.2:p.(Glu647ArgfsTer45)	NC_000002.11:g.228141110dup	(Likely) pathogenic	1 lab	11bcb907ef
22:38120478 TRIOBP C>T	22	38120478	38120478	C	T	TRIOBP	c.1915C>T	NM_001039141.3	NP_001034230.1:p.(Pro639Ser)	NC_000022.10:g.38120478C>T	VUS	1 lab	b72b22a511
2:210714187 UNC80 T>G	2	210714187	210714187	T	G	UNC80	c.3473T>G	NM_032504.1	NP_115893.1:p.(Phe1158Cys)	NC_000002.11:g.210714187T>G	VUS	1 lab	b72ed599a4
1:11854086 MTHFR C>A	1	11854086	11854086	C	A	MTHFR	c.1408G>T	NM_005957.4	NP_005948.3:p.(Glu470Ter)	NC_000001.10:g.11854086C>A	(Likely) pathogenic	1 lab	b72f727671
8:61655126 CHD7 C>T	8	61655126	61655126	C	T	CHD7	c.1135C>T	NM_017780.3	NP_060250.2:p.(Gln379Ter)	NC_000008.10:g.61655126C>T	(Likely) pathogenic	1 lab	b732160cc9
12:57589784 LRP1 A>C	12	57589784	57589784	A	C	LRP1	c.8699A>C	NM_002332.3	NP_002323.2:p.(Gln2900Pro)	NC_000012.11:g.57589784A>C	(Likely) benign	1 lab	0da4033c35
7:138453918 ATP6V0A4 G>A	7	138453918	138453918	G	A	ATP6V0A4	c.196C>T	NM_020632.2	NP_065683.2:p.(Arg66Cys)	NC_000007.13:g.138453918G>A	VUS	1 lab	b73b3e5f0b
16:20360359 UMOD G>A	16	20360359	20360359	G	A	UMOD	c.264C>T	NM_003361.2	NP_003352.2:p.(Gly88=)	NC_000016.9:g.20360359G>A	(Likely) benign	1 lab	b73ba170b9
8:144899317 PUF60 T>C	8	144899317	144899317	T	C	PUF60	c.1145-2A>G	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144899317T>C	(Likely) pathogenic	1 lab	b73ba5c371
7:143043878 CLCN1 G>A	7	143043878	143043878	G	A	CLCN1	c.2365-126G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043878G>A	(Likely) benign	1 lab	11bf4d864a
2:179469878 TTN T>A	2	179469878	179469878	T	A	TTN	c.54026A>T	NM_001267550.2	NP_001254479.2:p.(Lys18009Ile)	NC_000002.11:g.179469878T>A	VUS	1 lab	b742c4b115
1:94502780 ABCA4 C>T	1	94502780	94502780	C	T	ABCA4	c.3734G>A	NM_000350.2	NP_000341.2:p.(Ser1245Asn)	NC_000001.10:g.94502780C>T	VUS	1 lab	b74d3606ad
11:26656563 ANO3 C>T	11	26656563	26656563	C	T	ANO3	c.1989C>T	NM_031418.3	NP_113606.2:p.(Phe663=)	NC_000011.9:g.26656563C>T	(Likely) benign	1 lab	b74ecadbe4
5:161318033 GABRA1 C>A	5	161318033	161318033	C	A	GABRA1	c.833C>A	NM_000806.5	NP_000797.2:p.(Ser278Tyr)	NC_000005.9:g.161318033C>A	(Likely) pathogenic	1 lab	b750251eeb
3:38755487 SCN10A G>A	3	38755487	38755487	G	A	SCN10A	c.3766C>T	NM_006514.3	NP_006505.3:p.(Arg1256Trp)	NC_000003.11:g.38755487G>A	(Likely) pathogenic	1 lab	b751647d8b
1:152275559 FLG A>G	1	152275559	152275559	A	G	FLG	c.11803T>C	NM_002016.2	NP_002007.1:p.(Ser3935Pro)	NC_000001.10:g.152275559A>G	(Likely) benign	1 lab	b7529fb273
18:44172503 LOXHD1 C>A	18	44172503	44172503	C	A	LOXHD1	c.1476G>T	NM_144612.6	NP_653213.6:p.(Trp492Cys)	NC_000018.9:g.44172503C>A	VUS	1 lab	b753b883fa
19:45855610 ERCC2 G>A	19	45855610	45855610	G	A	ERCC2	c.2047C>T	NM_000400.3	NP_000391.1:p.(Arg683Trp)	NC_000019.9:g.45855610G>A	(Likely) pathogenic	1 lab	b753f4ce96
5:90074962 ADGRV1 AAGAG>A	5	90074962	90074969	AAGAG	A	ADGRV1	c.13082+52_13082+55del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90074966_90074969del	(Likely) benign	1 lab	11c264c4fe
2:167297891 SCN7A G>T	2	167297891	167297891	G	T	SCN7A	c.2157+15C>A	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167297891G>T	(Likely) benign	1 lab	b7578a88b8
17:41246879 BRCA1 T>A	17	41246879	41246879	T	A	BRCA1	c.671-2A>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41246879T>A	(Likely) pathogenic	1 lab	b757f79753
5:89947568 ADGRV1 C>T	5	89947568	89947568	C	T	ADGRV1	c.3416+21C>T	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89947568C>T	(Likely) benign	1 lab	11c544dceb
2:48027831 MSH6 T>C	2	48027831	48027831	T	C	MSH6	c.2709T>C	NM_000179.2	NP_000170.1:p.(Pro903=)	NC_000002.11:g.48027831T>C	(Likely) benign	1 lab	11c5fdce63
2:21250756 APOB T>C	2	21250756	21250756	T	C	APOB	c.2011A>G	NM_000384.3	NP_000375.3:p.(Ser671Gly)	NC_000002.11:g.21250756T>C	(Likely) benign	1 lab	0da6714a4f
3:127785804 SEC61A1 G>A	3	127785804	127785804	G	A	SEC61A1	c.785G>A	NM_013336.4	NP_037468.1:p.(Arg262Gln)	NC_000003.11:g.127785804G>A	VUS	1 lab	0da7a15c85
17:39927898 JUP C>T	17	39927898	39927898	C	T	JUP	c.208+1G>A	NM_002230.4	NP_002221.1:p.?	NC_000017.10:g.39927898C>T	(Likely) pathogenic	1 lab	b75f132b97
21:34099159 SYNJ1 T>TG	21	34099159	34099164	T	TG	SYNJ1	c.164dup	NM_003895.3	NP_003886.3:p.(Pro56ThrfsTer9)	NC_000021.8:g.34099164dup	(Likely) pathogenic	1 lab	b764c2b030
16:3778087 CREBBP G>A	16	3778087	3778087	G	A	CREBBP	c.6961C>T	NM_004380.3	NP_004371.2:p.(Leu2321Phe)	NC_000016.9:g.3778087G>A	VUS	1 lab	b76503e9ea
13:52536051 ATP7B T>C	13	52536051	52536051	T	C	ATP7B	c.1870-2A>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52536051T>C	VUS	1 lab	bef4e25d3b
1:98039399 DPYD C>T	1	98039399	98039399	C	T	DPYD	c.1256G>A	NM_000110.4	NP_000101.2:p.(Trp419Ter)	NC_000001.10:g.98039399C>T	(Likely) pathogenic	1 lab	0dabc8ccd9
2:179439895 TTN A>G	2	179439895	179439895	A	G	TTN	c.70964T>C	NM_001267550.2	NP_001254479.2:p.(Ile23655Thr)	NC_000002.11:g.179439895A>G	VUS	1 lab	b7695fe6ca
18:28667626 DSC2 A>G	18	28667626	28667626	A	G	DSC2	c.775+6T>C	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28667626A>G	(Likely) benign	1 lab	b76a7e846d
X:132833930 GPC3 G>A	X	132833930	132833930	G	A	GPC3	c.1159C>T	NM_004484.4	NP_004475.1:p.(Arg387Ter)	NC_000023.10:g.132833930G>A	(Likely) pathogenic	1 lab	0dae8db2f9
8:121298156 COL14A1 G>C	8	121298156	121298156	G	C	COL14A1	c.4024G>C	NM_021110.4	NP_066933.1:p.(Val1342Leu)	NC_000008.10:g.121298156G>C	(Likely) benign	1 lab	0db0677dab
3:4854872 ITPR1 TAG>T	3	4854872	4854874	TAG	T	ITPR1	c.7327_7328del	NM_002222.5	NP_002213.5:p.(Arg2443GlyfsTer26)	NC_000003.11:g.4854873_4854874del	VUS	1 lab	b774c164a9
12:52099266 SCN8A C>A	12	52099266	52099266	C	A	SCN8A	c.1200C>A	NM_014191.3	NP_055006.1:p.(Phe400Leu)	NC_000012.11:g.52099266C>A	VUS	1 lab	b77931102f
16:89341328 ANKRD11 C>T	16	89341328	89341328	C	T	ANKRD11	c.7607G>A	NM_001256182.2	NP_001243111.1:p.(Arg2536Gln)	NC_000016.9:g.89341328C>T	(Likely) pathogenic	1 lab	0db2b305f1
13:32914955 BRCA2 C>G	13	32914955	32914955	C	G	BRCA2	c.6463C>G	NM_000059.4	NP_000050.3:p.(Leu2155Val)	NC_000013.10:g.32914955C>G	VUS	1 lab	b784374ca6
4:170618698 CLCN3 T>A	4	170618698	170618698	T	A	CLCN3	c.1376T>A	NM_001829.4	NP_001820.2:p.(Leu459His)	NC_000004.11:g.170618698T>A	VUS	1 lab	b786792c00
21:47552182 COL6A2 A>G	21	47552182	47552182	A	G	COL6A2	c.2776A>G	NM_001849.4	NP_001840.3:p.(Asn926Asp)	NC_000021.8:g.47552182A>G	VUS	1 lab	b786d2f2b6
3:8775661 CAV3 C>A	3	8775661	8775661	C	A	CAV3	c.99C>A	NM_001234.4	NP_001225.1:p.(Asn33Lys)	NC_000003.11:g.8775661C>A	(Likely) pathogenic	1 lab	b78920d0ab
5:37183719 CPLANE1 T>C	5	37183719	37183719	T	C	CPLANE1	c.4564A>G	NM_023073.3	NP_075561.3:p.(Thr1522Ala)	NC_000005.9:g.37183719T>C	(Likely) benign	1 lab	11c8e2004f
2:167168063 SCN9A G>A	2	167168063	167168063	G	A	SCN9A	c.204C>T	NM_002977.3	NP_002968.1:p.(Pro68=)	NC_000002.11:g.167168063G>A	(Likely) benign	1 lab	b79350a137
8:143958104 CYP11B1 G>A	8	143958104	143958104	G	A	CYP11B1	c.793C>T	NM_000497.4	NP_000488.3:p.(Gln265Ter)	NC_000008.10:g.143958104G>A	(Likely) pathogenic	1 lab	b798b8d810
12:49580530 TUBA1A G>C	12	49580530	49580530	G	C	TUBA1A	c.90C>G	NM_001270399.1	NP_001257328.1:p.(Ile30Met)	NC_000012.11:g.49580530G>C	(Likely) pathogenic	1 lab	b79971bf62
2:152390002 NEB C>T	2	152390002	152390002	C	T	NEB	c.21371G>A	NM_001164508.2	NP_001157980.2:p.(Arg7124His)	NC_000002.11:g.152390002C>T	VUS	1 lab	b79b053156
2:179427846 TTN C>G	2	179427846	179427846	C	G	TTN	c.83013G>C	NM_001267550.2	NP_001254479.2:p.(Glu27671Asp)	NC_000002.11:g.179427846C>G	VUS	1 lab	b79e8abe03
4:1806519 FGFR3 C>T	4	1806519	1806519	C	T	FGFR3	c.1267-32C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806519C>T	(Likely) benign	1 lab	b79f22a021
X:153455671 OPN1MW G>C	X	153455671	153455671	G	C	OPN1MW	c.538G>C	NM_000513.2	NP_000504.1:p.(Ala180Pro)	NC_000023.10:g.153455671G>C	VUS	1 lab	b7a12922a4
5:112175154 APC GATGTA>G	5	112175154	112175161	GATGTA	G	APC	c.3866_3870del	NM_000038.6	NP_000029.2:p.(Cys1289SerfsTer10)	NC_000005.9:g.112175157_112175161del	(Likely) pathogenic	1 lab	b7a32490a8
5:112137080 APC G>A	5	112137080	112137080	G	A	APC	c.834G>A	NM_000038.6	NP_000029.2:p.(Gln278=)	NC_000005.9:g.112137080G>A	(Likely) pathogenic	1 lab	b7a67bc952
7:92147260 PEX1 G>T	7	92147260	92147260	G	T	PEX1	c.569C>A	NM_000466.3	NP_000457.1:p.(Ser190Ter)	NC_000007.13:g.92147260G>T	(Likely) pathogenic	1 lab	b7a8a838a8
20:33969830 UQCC1 T>C	20	33969830	33969830	T	C	UQCC1	c.226-2A>G	NM_018244.5	NP_060714.3:p.?	NC_000020.10:g.33969830T>C	VUS	1 lab	b7a9b0f1e4
4:88996659 PKD2 G>A	4	88996659	88996659	G	A	PKD2	c.2720G>A	NM_000297.4	NP_000288.1:p.(Arg907Gln)	NC_000004.11:g.88996659G>A	(Likely) benign	1 lab	11c9fc6ed2
17:59876659 BRIP1 A>C	17	59876659	59876659	A	C	BRIP1	c.1142T>G	NM_032043.3	NP_114432.2:p.(Met381Arg)	NC_000017.10:g.59876659A>C	VUS	1 lab	b7acada277
22:36696927 MYH9 C>T	22	36696927	36696927	C	T	MYH9	c.2808G>A	NM_002473.5	NP_002464.1:p.(Ala936=)	NC_000022.10:g.36696927C>T	(Likely) benign	1 lab	11ccddd621
15:89873353 POLG A>G	15	89873353	89873353	A	G	POLG	c.814T>C	NM_002693.3	NP_002684.1:p.(Ser272Pro)	NC_000015.9:g.89873353A>G	VUS	1 lab	b7ad4fa81e
2:166866246 SCN1A G>A	2	166866246	166866246	G	A	SCN1A				NC_000002.11:g.166866246G>A	(Likely) pathogenic	1 lab	b7b081412c
14:75360066 DLST C>T	14	75360066	75360066	C	T	DLST	c.611C>T	NM_001933.5	NP_001924.2:p.(Pro204Leu)	NC_000014.8:g.75360066C>T	(Likely) benign	1 lab	b7b4785fc8
9:129377778 LMX1B T>G	9	129377778	129377778	T	G	LMX1B	c.256T>G	NM_002316.4	NP_002307.2:p.(Cys86Gly)	NC_000009.11:g.129377778T>G	(Likely) pathogenic	1 lab	b7b6d5d1ec
2:179422796 TTN A>G	2	179422796	179422796	A	G	TTN	c.87285T>C	NM_001267550.2	NP_001254479.2:p.(Ile29095=)	NC_000002.11:g.179422796A>G	(Likely) benign	1 lab	b7b987ed53
6:109274497 ARMC2 G>A	6	109274497	109274497	G	A	ARMC2	c.1858G>A	NM_032131.6	NP_115507.4:p.(Val620Met)	NC_000006.11:g.109274497G>A	(Likely) benign	1 lab	11cda8daf5
10:101591889 ABCC2 G>A	10	101591889	101591889	G	A	ABCC2	c.3258+1G>A	NM_000392.4	NP_000383.1:p.?	NC_000010.10:g.101591889G>A	(Likely) pathogenic	1 lab	b7c114a70e
17:40844733 CNTNAP1 A>G	17	40844733	40844733	A	G	CNTNAP1	c.2747A>G	NM_003632.3	NP_003623.1:p.(Tyr916Cys)	NC_000017.10:g.40844733A>G	VUS	1 lab	0dbc996074
1:241675268 FH T>C	1	241675268	241675268	T	C	FH	c.554A>G	NM_000143.4	NP_000134.2:p.(Gln185Arg)	NC_000001.10:g.241675268T>C	(Likely) pathogenic	1 lab	b7cb01b96c
1:156108311 LMNA T>C	1	156108311	156108311	T	C	LMNA	c.1731T>C	NM_170707.3	NP_733821.1:p.(Ala577=)	NC_000001.10:g.156108311T>C	(Likely) benign	1 lab	b7d0e1fff4
17:7807292 CHD3 G>C	17	7807292	7807292	G	C	CHD3	c.3877G>C	NM_001005273.3	NP_001005273.1:p.(Val1293Leu)	NC_000017.10:g.7807292G>C	VUS	1 lab	b7d116922b
2:74327752 TET3 C>A	2	74327752	74327752	C	A	TET3	c.3837C>A	NM_001287491.2	NP_001274420.1:p.(Tyr1279Ter)	NC_000002.11:g.74327752C>A	(Likely) pathogenic	1 lab	b7d4060383
2:48026290 MSH6 G>A	2	48026290	48026290	G	A	MSH6	c.1168G>A	NM_000179.2	NP_000170.1:p.(Asp390Asn)	NC_000002.11:g.48026290G>A	(Likely) benign	1 lab	b7d7e53322
20:31996389 SNTA1 G>A	20	31996389	31996389	G	A	SNTA1	c.1442C>T	NM_003098.2	NP_003089.1:p.(Ser481Leu)	NC_000020.10:g.31996389G>A	VUS	1 lab	b7d9211ce6
7:107330644 SLC26A4 C>T	7	107330644	107330644	C	T	SLC26A4	c.1225C>T	NM_000441.1	NP_000432.1:p.(Arg409Cys)	NC_000007.13:g.107330644C>T	(Likely) pathogenic	1 lab	b7da380441
17:39727757 KRT9 C>T	17	39727757	39727757	C	T	KRT9	c.488G>A	NM_000226.3	NP_000217.2:p.(Arg163Gln)	NC_000017.10:g.39727757C>T	(Likely) pathogenic	1 lab	b7ddcbc16a
X:41530667 CASK T>A	X	41530667	41530667	T	A	CASK	c.532+14A>T	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41530667T>A	(Likely) benign	1 lab	11ce4fb821
2:179413758 TTN T>G	2	179413758	179413758	T	G	TTN	c.87672A>C	NM_001256850.1	NP_001243779.1:p.(Leu29224Phe)	NC_000002.11:g.179413758T>G	VUS	1 lab	0dc3ff49ba
13:32932053 BRCA2 G>T	13	32932053	32932053	G	T	BRCA2	c.7792G>T	NM_000059.3	NP_000050.2:p.(Glu2598Ter)	NC_000013.10:g.32932053G>T	(Likely) pathogenic	1 lab	b7e0600508
1:152285907 FLG G>A	1	152285907	152285907	G	A	FLG	c.1455C>T	NM_002016.2	NP_002007.1:p.(Thr485=)	NC_000001.10:g.152285907G>A	(Likely) benign	1 lab	0dc4281486
X:79286456 TBX22 C>A	X	79286456	79286456	C	A	TBX22	c.1409C>A	NM_001109878.2	NP_001103348.1:p.(Pro470His)	NC_000023.10:g.79286456C>A	VUS	1 lab	b7e2669020
12:6700689 CHD4 G>A	12	6700689	6700689	G	A	CHD4	c.3283C>T	NM_001273.3	NP_001264.2:p.(Arg1095Cys)	NC_000012.11:g.6700689G>A	(Likely) pathogenic	1 lab	b7e42908fa
5:112175573 APC G>T	5	112175573	112175573	G	T	APC	c.4282G>T	NM_000038.6	NP_000029.2:p.(Gly1428Ter)	NC_000005.9:g.112175573G>T	(Likely) pathogenic	1 lab	b7e84a29fa
3:37038181 MLH1 A>G	3	37038181	37038181	A	G	MLH1	c.188A>G	NM_000249.4	NP_000240.1:p.(Asp63Gly)	NC_000003.11:g.37038181A>G	(Likely) pathogenic	1 lab	b7e97e9b75
6:6196074 F13A1 C>T	6	6196074	6196074	C	T	F13A1	c.1261G>A	NM_000129.3	NP_000120.2:p.(Gly421Ser)	NC_000006.11:g.6196074C>T	(Likely) pathogenic	1 lab	b7e98785c1
11:44129522 EXT2 T>G	11	44129522	44129522	T	G	EXT2	c.260T>G	NM_207122.2	NP_997005.1:p.(Met87Arg)	NC_000011.9:g.44129522T>G	VUS	1 lab	b7ea745882
3:38945502 SCN11A C>T	3	38945502	38945502	C	T	SCN11A	c.1696G>A	NM_014139.3	NP_054858.2:p.(Val566Ile)	NC_000003.11:g.38945502C>T	(Likely) benign	1 lab	b7eeb93cc7
7:66456121 SBDS T>TA	7	66456121	66456122	T	TA	SBDS	c.624+2dup	NM_016038.4	NP_057122.2:p.?	NC_000007.13:g.66456122dup	(Likely) pathogenic	1 lab	b7f0d37960
11:62397107 GANAB C>T	11	62397107	62397107	C	T	GANAB	c.1787G>A	NM_198334.3	NP_938148.1:p.(Arg596His)	NC_000011.9:g.62397107C>T	(Likely) pathogenic	1 lab	b7f6961f5f
2:218712859 TNS1 C>G	2	218712859	218712859	C	G	TNS1	c.2381G>C	NM_001387777.1	NP_001374706.1:p.(Arg794Thr)	NC_000002.11:g.218712859C>G	VUS	1 lab	b7f8018a2c
2:240078488 HDAC4 C>G	2	240078488	240078488	C	G	HDAC4	c.612-19G>C	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240078488C>G	(Likely) benign	1 lab	b7f8a651bf
17:41223145 BRCA1 A>C	17	41223145	41223145	A	C	BRCA1	c.4786T>G	NM_007294.3	NP_009225.1:p.(Ser1596Ala)	NC_000017.10:g.41223145A>C	(Likely) benign	1 lab	b7fdd06128
11:108173570 ATM T>C	11	108173570	108173570	T	C	ATM	c.5320-10T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108173570T>C	(Likely) benign	1 lab	b7fff0513c
9:140051504 GRIN1 C>T	9	140051504	140051504	C	T	GRIN1	c.968+15C>T	NM_007327.3	NP_015566.1:p.?	NC_000009.11:g.140051504C>T	(Likely) benign	1 lab	b8035fcdce
6:7580414 DSP A>G	6	7580414	7580414	A	G	DSP	c.3991A>G	NM_004415.4	NP_004406.2:p.(Lys1331Glu)	NC_000006.11:g.7580414A>G	VUS	1 lab	b8042def61
21:45712286 AIRE T>C	21	45712286	45712286	T	C	AIRE				NC_000021.8:g.45712286T>C	(Likely) pathogenic	1 lab	b8093b7165
2:16085764 MYCN C>T	2	16085764	16085764	C	T	MYCN	c.940C>T	NM_005378.6	NP_005369.2:p.(Gln314Ter)	NC_000002.11:g.16085764C>T	(Likely) pathogenic	1 lab	b80cd180fd
2:48027475 MSH6 C>T	2	48027475	48027475	C	T	MSH6	c.2353C>T	NM_000179.3	NP_000170.1:p.(His785Tyr)	NC_000002.11:g.48027475C>T	VUS	1 lab	0dc71d7641
22:51009953 CPT1B C>T	22	51009953	51009953	C	T	CPT1B	c.1591G>A	NM_004377.3	NP_004368.1:p.(Glu531Lys)	NC_000022.10:g.51009953C>T	(Likely) benign	1 lab	b80e05c7c1
17:6596363 SLC13A5 C>G	17	6596363	6596363	C	G	SLC13A5	c.1275G>C	NM_177550.4	NP_808218.1:p.(Glu425Asp)	NC_000017.10:g.6596363C>G	(Likely) pathogenic	1 lab	b80e37d0ce
4:158057560 GLRB G>A	4	158057560	158057560	G	A	GLRB	c.298-61G>A	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.158057560G>A	(Likely) benign	1 lab	11d8add2d7
12:32949099 PKP2 G>A	12	32949099	32949099	G	A	PKP2	c.2433C>T	NM_004572.3	NP_004563.2:p.(Arg811=)	NC_000012.11:g.32949099G>A	(Likely) benign	1 lab	b81015ea79
2:228169795 COL4A3 G>A	2	228169795	228169795	G	A	COL4A3	c.4248G>A	NM_000091.4	NP_000082.2:p.(Glu1416=)	NC_000002.11:g.228169795G>A	(Likely) benign	1 lab	b8104b563e
12:122263177 SETD1B C>T	12	122263177	122263177	C	T	SETD1B	c.5242C>T	NM_001353345.2	NP_001340274.1:p.(Arg1748Cys)	NC_000012.11:g.122263177C>T	(Likely) pathogenic	1 lab	b8142b78bb
5:112175398 APC C>CA	5	112175398	112175402	C	CA	APC	c.4111dup	NM_000038.6	NP_000029.2:p.(Ser1371LysfsTer4)	NC_000005.9:g.112175402dup	(Likely) pathogenic	1 lab	b815df02fb
1:66075744 LEPR A>C	1	66075744	66075744	A	C	LEPR	c.1867A>C	NM_002303.6	NP_002294.2:p.(Ser623Arg)	NC_000001.10:g.66075744A>C	VUS	1 lab	0dca071645
6:133767820 EYA4 G>A	6	133767820	133767820	G	A	EYA4	c.136G>A	NM_004100.4	NP_004091.3:p.(Asp46Asn)	NC_000006.11:g.133767820G>A	(Likely) benign	1 lab	b81729927f
1:216246517 USH2A A>C	1	216246517	216246517	A	C	USH2A	c.5698T>G	NM_206933.2	NP_996816.2:p.(Cys1900Gly)	NC_000001.10:g.216246517A>C	VUS	1 lab	b81900e8c4
17:1782557 RPA1 A>G	17	1782557	1782557	A	G	RPA1	c.808A>G	NM_002945.5	NP_002936.1:p.(Thr270Ala)	NC_000017.10:g.1782557A>G	VUS	1 lab	0dcb19b4c9
5:231051 SDHA G>A	5	231051	231051	G	A	SDHA	c.831G>A	NM_004168.2	NP_004159.2:p.(Thr277=)	NC_000005.9:g.231051G>A	(Likely) benign	1 lab	b819690cbe
10:18789795 CACNB2 G>A	10	18789795	18789795	G	A	CACNB2				NC_000010.10:g.18789795G>A	VUS	1 lab	b819be08fd
10:112544140 RBM20 T>C	10	112544140	112544140	T	C	RBM20	c.1379T>C	NM_001134363.3	NP_001127835.2:p.(Leu460Ser)	NC_000010.10:g.112544140T>C	VUS	1 lab	b820a9c4a7
7:104753080 KMT2E TC>T	7	104753080	104753086	TC	T	KMT2E	c.4883del	NM_182931.3	NP_891847.1:p.(Pro1628LeufsTer25)	NC_000007.13:g.104753086del	(Likely) pathogenic	1 lab	0dcdbf9964
15:72103849 NR2E3 G>A	15	72103849	72103849	G	A	NR2E3	c.145G>A	NM_014249.2	NP_055064.1:p.(Val49Met)	NC_000015.9:g.72103849G>A	VUS	1 lab	b823f23246
11:118971059 DPAGT1 T>C	11	118971059	118971059	T	C	DPAGT1	c.556A>G	NM_001382.3	NP_001373.2:p.(Ile186Val)	NC_000011.9:g.118971059T>C	VUS	1 lab	b8456e82fe
11:47364207 MYBPC3 CGTT>C	11	47364207	47364211	CGTT	C	MYBPC3	c.1543_1545del	NM_000256.3	NP_000247.2:p.(Asn515del)	NC_000011.9:g.47364209_47364211del	VUS	1 lab	b825f612db
5:90281208 ADGRV1 G>C	5	90281208	90281208	G	C	ADGRV1	c.18021G>C	NM_032119.3	NP_115495.3:p.(Glu6007Asp)	NC_000005.9:g.90281208G>C	VUS	1 lab	b82e2e848b
2:215609816 BARD1 A>G	2	215609816	215609816	A	G	BARD1	c.1878T>C	NM_000465.4	NP_000456.2:p.(Asn626=)	NC_000002.11:g.215609816A>G	(Likely) benign	1 lab	b83083bf67
7:151188043 RHEB G>A	7	151188043	151188043	G	A	RHEB	c.110C>T	NM_005614.3	NP_005605.1:p.(Pro37Leu)	NC_000007.13:g.151188043G>A	VUS	1 lab	b832c81b57
X:20252889 RPS6KA3 A>C	X	20252889	20252889	A	C	RPS6KA3	c.113T>G	NM_004586.2	NP_004577.1:p.(Ile38Ser)	NC_000023.10:g.20252889A>C	(Likely) benign	1 lab	b83422e8e8
12:52188352 SCN8A T>C	12	52188352	52188352	T	C	SCN8A	c.4722T>C	NM_001330260.2	NP_001317189.1:p.(Phe1574=)	NC_000012.11:g.52188352T>C	(Likely) benign	1 lab	b835d90122
2:27306625 EMILIN1 G>A	2	27306625	27306625	G	A	EMILIN1	c.2186G>A	NM_007046.4	NP_008977.1:p.(Arg729His)	NC_000002.11:g.27306625G>A	(Likely) benign	1 lab	b837038579
X:107829978 COL4A5 G>A	X	107829978	107829978	G	A	COL4A5	c.1165+1G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107829978G>A	(Likely) pathogenic	1 lab	b83bfca071
2:167060584 SCN9A A>G	2	167060584	167060584	A	G	SCN9A	c.4622T>C	NM_002977.3	NP_002968.1:p.(Val1541Ala)	NC_000002.11:g.167060584A>G	(Likely) benign	1 lab	b83d0a585c
17:62022041 SCN4A T>G	17	62022041	62022041	T	G	SCN4A	c.3904A>C	NM_000334.4	NP_000325.4:p.(Lys1302Gln)	NC_000017.10:g.62022041T>G	VUS	1 lab	b83f03bc8a
3:120351993 HGD C>T	3	120351993	120351993	C	T	HGD	c.1188+1G>A	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120351993C>T	(Likely) pathogenic	1 lab	b8402ad12b
X:153640181 TAFAZZIN A>G	X	153640181	153640181	A	G	TAFAZZIN	c.1A>G	NM_000116.3	NP_000107.1:p.(Met1?)	NC_000023.10:g.153640181A>G	(Likely) pathogenic	1 lab	b840a27539
10:88492823 LDB3 G>A	10	88492823	88492823	G	A	LDB3	c.*90G>A	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88492823G>A	(Likely) benign	1 lab	b842273409
16:23647239 PALB2 G>C	16	23647239	23647239	G	C	PALB2	c.628C>G	NM_024675.4	NP_078951.2:p.(Pro210Ala)	NC_000016.9:g.23647239G>C	VUS	1 lab	b8436c9047
1:2237488 SKI G>A	1	2237488	2237488	G	A	SKI	c.1797G>A	NM_003036.3	NP_003027.1:p.(Lys599=)	NC_000001.10:g.2237488G>A	(Likely) benign	1 lab	b84621d34e
4:77676061 SHROOM3 T>C	4	77676061	77676061	T	C	SHROOM3	c.4425T>C	NM_020859.3	NP_065910.3:p.(Pro1475=)	NC_000004.11:g.77676061T>C	(Likely) benign	1 lab	b84666cd47
2:48034084 MSH6 T>A	2	48034084	48034084	T	A	MSH6	c.*85T>A	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48034084T>A	(Likely) benign	1 lab	b849cb6278
2:202149805 CASP8 A>T	2	202149805	202149805	A	T	CASP8	c.1246A>T	NM_001080125.2	NP_001073594.1:p.(Ile416Phe)	NC_000002.11:g.202149805A>T	VUS	1 lab	11dd3c96e8
1:237664213 RYR2 T>C	1	237664213	237664213	T	C	RYR2	c.2396+10T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237664213T>C	(Likely) benign	1 lab	11de99c377
17:7121105 ACADVL C>A	17	7121105	7121105	C	A	ACADVL	c.99C>A	NM_001270447.1	NP_001257376.1:p.(Gly33=)	NC_000017.10:g.7121105C>A	(Likely) benign	1 lab	b84be656c4
1:236918380 ACTN2 A>G	1	236918380	236918380	A	G	ACTN2	c.2036A>G	NM_001103.3	NP_001094.1:p.(Lys679Arg)	NC_000001.10:g.236918380A>G	VUS	1 lab	11df2d5acc
6:64694355 EYS G>A	6	64694355	64694355	G	A	EYS	c.6976C>T	NM_001292009.1	NP_001278938.1:p.(Arg2326Ter)	NC_000006.11:g.64694355G>A	(Likely) pathogenic	1 lab	b84e5f3636
2:136872946 CXCR4 A>AT	2	136872946	136872947	A	AT	CXCR4	c.551dup	NM_003467.3	NP_003458.1:p.(Tyr184Ter)	NC_000002.11:g.136872947dup	VUS	1 lab	0dcf242177
7:128484707 FLNC C>T	7	128484707	128484707	C	T	FLNC	c.3193-5C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128484707C>T	(Likely) benign	1 lab	b852dd849d
12:6442911 TNFRSF1A C>T	12	6442911	6442911	C	T	TNFRSF1A	c.314G>A	NM_001065.3	NP_001056.1:p.(Cys105Tyr)	NC_000012.11:g.6442911C>T	(Likely) pathogenic	1 lab	11e5ecceda
12:133250103 POLE G>A	12	133250103	133250103	G	A	POLE	c.1359+58C>T	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133250103G>A	(Likely) benign	1 lab	b856eb11f6
6:80228535 LCA5 T>G	6	80228535	80228535	T	G	LCA5	c.77A>C	NM_181714.3	NP_859065.2:p.(Asp26Ala)	NC_000006.11:g.80228535T>G	(Likely) benign	1 lab	b8582fc895
17:29623348 OMG A>G	17	29623348	29623348	A	G	OMG	c.2T>C	NM_002544.4	NP_002535.3:p.(Met1?)	NC_000017.10:g.29623348A>G	VUS	1 lab	b85b40cb95
10:16957052 CUBN G>A	10	16957052	16957052	G	A	CUBN	c.7330C>T	NM_001081.3	NP_001072.2:p.(Arg2444Ter)	NC_000010.10:g.16957052G>A	(Likely) pathogenic	1 lab	11e6672e8c
12:6442963 TNFRSF1A A>G	12	6442963	6442963	A	G	TNFRSF1A	c.262T>C	NM_001065.3	NP_001056.1:p.(Ser88Pro)	NC_000012.11:g.6442963A>G	(Likely) pathogenic	1 lab	11eae4e94d
10:90773984 FAS T>C	10	90773984	90773984	T	C	FAS	c.785T>C	NM_000043.4	NP_000034.1:p.(Ile262Thr)	NC_000010.10:g.90773984T>C	VUS	1 lab	11ed0d70e7
13:23906860 SACS G>T	13	23906860	23906860	G	T	SACS	c.11155C>A	NM_014363.5	NP_055178.3:p.(Gln3719Lys)	NC_000013.10:g.23906860G>T	VUS	1 lab	b85f864e6d
10:61955908 ANK3 C>T	10	61955908	61955908	C	T	ANK3	c.1882G>A	NM_020987.3	NP_066267.2:p.(Ala628Thr)	NC_000010.10:g.61955908C>T	VUS	1 lab	b85fbda981
3:38648293 SCN5A G>A	3	38648293	38648293	G	A	SCN5A	c.1007C>T	NM_001099404.2	NP_001092874.1:p.(Pro336Leu)	NC_000003.11:g.38648293G>A	VUS	1 lab	0dd4c341b7
13:32889721 BRCA2 G>T	13	32889721	32889721	G	T	BRCA2	c.-123G>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32889721G>T	(Likely) benign	1 lab	b864b333b2
X:153219665 HCFC1 C>T	X	153219665	153219665	C	T	HCFC1	c.4185G>A	NM_005334.3	NP_005325.2:p.(Ala1395=)	NC_000023.10:g.153219665C>T	(Likely) benign	1 lab	0dd5541e5f
9:140350929 NSMF G>A	9	140350929	140350929	G	A	NSMF	c.638C>T	NM_015537.4	NP_056352.3:p.(Pro213Leu)	NC_000009.11:g.140350929G>A	VUS	1 lab	b86a334696
2:241724474 KIF1A G>C	2	241724474	241724474	G	C	KIF1A	c.652C>G	NM_001244008.1	NP_001230937.1:p.(His218Asp)	NC_000002.11:g.241724474G>C	(Likely) pathogenic	1 lab	b86af727c7
2:167089985 SCN9A C>T	2	167089985	167089985	C	T	SCN9A	c.3769-13G>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089985C>T	(Likely) benign	1 lab	b86e8e133b
10:114057943 TECTB A>G	10	114057943	114057943	A	G	TECTB	c.788A>G	NM_058222.2	NP_478129.1:p.(His263Arg)	NC_000010.10:g.114057943A>G	(Likely) benign	1 lab	b871a3d119
12:8759569 AICDA T>C	12	8759569	8759569	T	C	AICDA	c.48A>G	NM_020661.2	NP_065712.1:p.(Lys16=)	NC_000012.11:g.8759569T>C	(Likely) benign	1 lab	11ed3adbb7
4:128870957 MFSD8 A>G	4	128870957	128870957	A	G	MFSD8	c.198+2T>C	NM_152778.2	NP_689991.1:p.?	NC_000004.11:g.128870957A>G	(Likely) pathogenic	1 lab	b874ddd3ce
16:2141445 PKD1 G>A	16	2141445	2141445	G	A	PKD1	c.11691C>T	NM_001009944.3	NP_001009944.3:p.(Leu3897=)	NC_000016.9:g.2141445G>A	(Likely) benign	1 lab	b875a36158
5:179260009 SQSTM1 G>A	5	179260009	179260009	G	A	SQSTM1	c.755-23G>A	NM_003900.4	NP_003891.1:p.?	NC_000005.9:g.179260009G>A	(Likely) benign	1 lab	b876990e50
1:221055683 HLX A>C	1	221055683	221055683	A	C	HLX	c.950A>C	NM_021958.4	NP_068777.1:p.(Asp317Ala)	NC_000001.10:g.221055683A>C	(Likely) pathogenic	1 lab	b8771fd8f2
17:59858319 BRIP1 G>C	17	59858319	59858319	G	C	BRIP1	c.1676C>G	NM_032043.3	NP_114432.2:p.(Thr559Arg)	NC_000017.10:g.59858319G>C	VUS	1 lab	b879287c3b
1:29379889 EPB41 C>G	1	29379889	29379889	C	G	EPB41	c.1218+65C>G	NM_004437.4	NP_004428.1:p.?	NC_000001.10:g.29379889C>G	(Likely) benign	1 lab	b13f42c743
16:88871253 CDT1 G>A	16	88871253	88871253	G	A	CDT1	c.435G>A	NM_030928.3	NP_112190.2:p.(Gln145=)	NC_000016.9:g.88871253G>A	(Likely) benign	1 lab	b87c0aea15
2:32361944 SPAST A>C	2	32361944	32361944	A	C	SPAST	c.1322-2A>C	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32361944A>C	VUS	1 lab	b87d5cb742
22:50301457 ALG12 A>G	22	50301457	50301457	A	G	ALG12	c.904T>C	NM_024105.3	NP_077010.1:p.(Tyr302His)	NC_000022.10:g.50301457A>G	(Likely) pathogenic	1 lab	b87e1ef68d
3:132432016 NPHP3 C>A	3	132432016	132432016	C	A	NPHP3	c.1072G>T	NM_153240.4	NP_694972.3:p.(Glu358Ter)	NC_000003.11:g.132432016C>A	(Likely) pathogenic	1 lab	b87fe3d5ee
10:76788689 KAT6B G>GGAA	10	76788689	76788702	G	GGAA	KAT6B	c.4118_4120dup	NM_012330.4	NP_036462.2:p.(Glu1373dup)	NC_000010.10:g.76788700_76788702dup	(Likely) benign	1 lab	0dd6e349d8
3:165548394 BCHE C>T	3	165548394	165548394	C	T	BCHE	c.428G>A	NM_000055.4	NP_000046.1:p.(Gly143Asp)	NC_000003.11:g.165548394C>T	VUS	1 lab	b884f98679
12:33049647 PKP2 G>A	12	33049647	33049647	G	A	PKP2	c.19C>T	NM_004572.3	NP_004563.2:p.(Pro7Ser)	NC_000012.11:g.33049647G>A	(Likely) benign	1 lab	b889066cff
1:173800770 DARS2 T>C	1	173800770	173800770	T	C	DARS2	c.492+2T>C	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173800770T>C	(Likely) pathogenic	1 lab	0dde07a997
2:232079695 ARMC9 AG>A	2	232079695	232079696	AG	A	ARMC9	c.330del	NM_025139.6	NP_079415.4:p.(Lys110AsnfsTer30)	NC_000002.11:g.232079696del	(Likely) pathogenic	1 lab	0dde1eb2d3
7:65439543 GUSB T>C	7	65439543	65439543	T	C	GUSB				NC_000007.13:g.65439543T>C	VUS	1 lab	b896341586
13:111298424 CARS2 T>C	13	111298424	111298424	T	C	CARS2	c.1207A>G	NM_024537.4	NP_078813.1:p.(Lys403Glu)	NC_000013.10:g.111298424T>C	VUS	1 lab	0dded80a75
19:920746 KISS1R T>A	19	920746	920746	T	A	KISS1R	c.1195T>A	NM_032551.4	NP_115940.2:p.(Ter399ArgextTer?)	NC_000019.9:g.920746T>A	(Likely) pathogenic	1 lab	b89a2ee5dd
3:191047532 CCDC50 A>G	3	191047532	191047532	A	G	CCDC50	c.49+20A>G	NM_178335.3	NP_848018.1:p.?	NC_000003.11:g.191047532A>G	(Likely) benign	1 lab	0ddf8d779d
21:34775942 IFNGR2 C>CCGCGGCGGGA	21	34775942	34775957	C	CCGCGGCGGGA	IFNGR2	c.73+26_73+35dup	NM_005534.3	NP_005525.2:p.?	NC_000021.8:g.34775948_34775957dup	(Likely) benign	1 lab	11f0f25aa7
13:32913027 BRCA2 G>A	13	32913027	32913027	G	A	BRCA2	c.4535G>A	NM_000059.4	NP_000050.3:p.(Arg1512His)	NC_000013.10:g.32913027G>A	(Likely) benign	1 lab	0de428251b
8:133150175 KCNQ3 C>T	8	133150175	133150175	C	T	KCNQ3	c.1657G>A	NM_004519.4	NP_004510.1:p.(Gly553Arg)	NC_000008.10:g.133150175C>T	(Likely) pathogenic	1 lab	b8a664a27e
2:227872190 COL4A4 G>A	2	227872190	227872190	G	A	COL4A4	c.4924C>T	NM_000092.4	NP_000083.3:p.(His1642Tyr)	NC_000002.11:g.227872190G>A	VUS	1 lab	b8aa0cd646
X:32591738 DMD C>T	X	32591738	32591738	C	T	DMD	c.1721G>A	NM_004006.2	NP_003997.1:p.(Trp574Ter)	NC_000023.10:g.32591738C>T	(Likely) pathogenic	1 lab	b8ae2eb42d
1:200522693 KIF14 C>G	1	200522693	200522693	C	G	KIF14	c.4770G>C	NM_014875.3	NP_055690.1:p.(Leu1590Phe)	NC_000001.10:g.200522693C>G	VUS	1 lab	0de7f7c329
12:13724737 GRIN2B C>T	12	13724737	13724737	C	T	GRIN2B	c.2171+1G>A	NM_000834.3	NP_000825.2:p.?	NC_000012.11:g.13724737C>T	(Likely) pathogenic	1 lab	b8b369bb19
12:6140660 VWF G>A	12	6140660	6140660	G	A	VWF	c.2770C>T	NM_000552.3	NP_000543.2:p.(Arg924Trp)	NC_000012.11:g.6140660G>A	VUS	1 lab	b8b46fcb29
2:121708802 GLI2 G>T	2	121708802	121708802	G	T	GLI2	c.255-17G>T	NM_005270.4	NP_005261.2:p.?	NC_000002.11:g.121708802G>T	(Likely) benign	1 lab	b8bc5284bd
6:33140890 COL11A2 C>T	6	33140890	33140890	C	T	COL11A2	c.2737G>A	NM_080680.2	NP_542411.2:p.(Gly913Ser)	NC_000006.11:g.33140890C>T	VUS	1 lab	b8bf08fd77
5:112174033 APC T>A	5	112174033	112174033	T	A	APC	c.2742T>A	NM_000038.6	NP_000029.2:p.(Cys914Ter)	NC_000005.9:g.112174033T>A	(Likely) pathogenic	1 lab	b8bf56d4b4
13:101736103 NALCN C>T	13	101736103	101736103	C	T	NALCN	c.3542G>A	NM_052867.4	NP_443099.1:p.(Arg1181Gln)	NC_000013.10:g.101736103C>T	(Likely) pathogenic	1 lab	0deb810366
3:37090394 MLH1 G>A	3	37090394	37090394	G	A	MLH1	c.1990-1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37090394G>A	(Likely) pathogenic	1 lab	b8cada57cb
17:33434049 RAD51D G>A	17	33434049	33434049	G	A	RAD51D	c.438C>T	NM_002878.3	NP_002869.3:p.(Leu146=)	NC_000017.10:g.33434049G>A	(Likely) benign	1 lab	b8cc42ebcd
X:69615675 KIF4A G>A	X	69615675	69615675	G	A	KIF4A	c.2387G>A	NM_012310.4	NP_036442.3:p.(Arg796Gln)	NC_000023.10:g.69615675G>A	VUS	1 lab	b8cddd6871
10:31810320 ZEB1 C>CCCCAG	10	31810320	31810325	C	CCCCAG	ZEB1	c.2061_2065dup	NM_001174096.2	NP_001167567.1:p.(Val689AlafsTer23)	NC_000010.10:g.31810321_31810325dup	(Likely) pathogenic	1 lab	b8cf468e83
6:75812363 COL12A1 C>G	6	75812363	75812363	C	G	COL12A1	c.8365G>C	NM_004370.5	NP_004361.3:p.(Gly2789Arg)	NC_000006.11:g.75812363C>G	(Likely) pathogenic	1 lab	b8cf55c46c
2:189839218 COL3A1 G>A	2	189839218	189839218	G	A	COL3A1				NC_000002.11:g.189839218G>A	VUS	1 lab	b8cfc5b687
X:41437630 CASK C>T	X	41437630	41437630	C	T	CASK				NC_000023.10:g.41437630C>T	(Likely) pathogenic	1 lab	b8d4b9a3c6
10:50724236 ERCC6 A>G	10	50724236	50724236	A	G	ERCC6	c.2329T>C	NM_001277058.2	NP_001263987.1:p.(Trp777Arg)	NC_000010.10:g.50724236A>G	VUS	1 lab	0deba04a09
5:112175939 APC G>T	5	112175939	112175939	G	T	APC	c.4648G>T	NM_000038.6	NP_000029.2:p.(Glu1550Ter)	NC_000005.9:g.112175939G>T	(Likely) pathogenic	1 lab	b8da15638d
3:38519629 ACVR2B C>T	3	38519629	38519629	C	T	ACVR2B	c.371-3C>T	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38519629C>T	(Likely) benign	1 lab	b8db43cfd5
1:215847677 USH2A G>A	1	215847677	215847677	G	A	USH2A	c.13576C>T	NM_206933.4	NP_996816.3:p.(Arg4526Ter)	NC_000001.10:g.215847677G>A	(Likely) pathogenic	1 lab	b8dc019976
11:47371497 MYBPC3 C>T	11	47371497	47371497	C	T	MYBPC3	c.506-24G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371497C>T	VUS	1 lab	b8dcd2f834
20:9389727 PLCB4 G>A	20	9389727	9389727	G	A	PLCB4	c.1898G>A	NM_001377142.1	NP_001364071.1:p.(Arg633His)	NC_000020.10:g.9389727G>A	(Likely) pathogenic	1 lab	b8dd1a1147
2:48026045 MSH6 GCTCT>G	2	48026045	48026051	GCTCT	G	MSH6	c.926_929del	NM_000179.3	NP_000170.1:p.(Ser309LeufsTer28)	NC_000002.11:g.48026048_48026051del	(Likely) pathogenic	1 lab	b8e2e57b29
1:94497526 ABCA4 C>G	1	94497526	94497526	C	G	ABCA4	c.3936G>C	NM_000350.2	NP_000341.2:p.(Gln1312His)	NC_000001.10:g.94497526C>G	VUS	1 lab	b8e55b5bc7
7:107330602 SLC26A4 T>C	7	107330602	107330602	T	C	SLC26A4	c.1183T>C	NM_000441.1	NP_000432.1:p.(Ser395Pro)	NC_000007.13:g.107330602T>C	VUS	1 lab	b8e7bb781a
8:68113799 ARFGEF1 TCTC>T	8	68113799	68113804	TCTC	T	ARFGEF1	c.5167_5169del	NM_006421.5	NP_006412.2:p.(Glu1723del)	NC_000008.10:g.68113802_68113804del	VUS	1 lab	0def7aa082
11:30032806 KCNA4 T>G	11	30032806	30032806	T	G	KCNA4				NC_000011.9:g.30032806T>G	VUS	1 lab	b8eabd40bb
1:3106041 PRDM16 C>A	1	3106041	3106041	C	A	PRDM16	c.387+3003C>A	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3106041C>A	VUS	1 lab	0df56ce244
9:129455843 LMX1B G>A	9	129455843	129455843	G	A	LMX1B				NC_000009.11:g.129455843G>A	(Likely) pathogenic	1 lab	b8edc78786
9:75407159 TMC1 T>C	9	75407159	75407159	T	C	TMC1	c.1457T>C	NM_138691.2	NP_619636.2:p.(Met486Thr)	NC_000009.11:g.75407159T>C	(Likely) benign	1 lab	b8eee524ac
11:108117782 ATM G>A	11	108117782	108117782	G	A	ATM	c.993G>A	NM_000051.3	NP_000042.3:p.(Lys331=)	NC_000011.9:g.108117782G>A	(Likely) benign	1 lab	b8eee69a97
2:32372328 SPAST G>A	2	32372328	32372328	G	A	SPAST	c.1728+1G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32372328G>A	(Likely) pathogenic	1 lab	b8ef91a391
2:227920760 COL4A4 C>T	2	227920760	227920760	C	T	COL4A4	c.2617G>A	NM_000092.4	NP_000083.3:p.(Gly873Arg)	NC_000002.11:g.227920760C>T	(Likely) pathogenic	1 lab	b8f085baaf
12:70724139 CNOT2 C>G	12	70724139	70724139	C	G	CNOT2	c.459C>G	NM_001199303.2	NP_001186232.1:p.(Ser153Arg)	NC_000012.11:g.70724139C>G	VUS	1 lab	0df7f32be7
10:75868777 VCL G>T	10	75868777	75868777	G	T	VCL	c.2608G>T	NM_014000.3	NP_054706.1:p.(Val870Phe)	NC_000010.10:g.75868777G>T	VUS	1 lab	b8fe4d8ba5
12:133212564 POLE G>A	12	133212564	133212564	G	A	POLE	c.5725C>T	NM_006231.4	NP_006222.2:p.(Arg1909Ter)	NC_000012.11:g.133212564G>A	(Likely) pathogenic	1 lab	b9017532bc
7:151254294 PRKAG2 G>A	7	151254294	151254294	G	A	PRKAG2	c.1703C>T	NM_016203.4	NP_057287.2:p.(Thr568Met)	NC_000007.13:g.151254294G>A	(Likely) benign	1 lab	b9046f526d
11:108114677 ATM A>G	11	108114677	108114677	A	G	ATM	c.497-3A>G	NM_001351834.2	NP_001338763.1:p.?	NC_000011.9:g.108114677A>G	VUS	1 lab	0df81c05f8
14:91766338 CCDC88C G>C	14	91766338	91766338	G	C	CCDC88C	c.3712C>G	NM_001080414.4	NP_001073883.2:p.(Gln1238Glu)	NC_000014.8:g.91766338G>C	VUS	1 lab	0df8dc8012
X:8536427 ANOS1 A>AATACCCAAAACT	X	8536427	8536429	A	AATACCCAAAACT	ANOS1	c.1063-11_1063-10insAGTTTTGGGTAT	NM_000216.2	NP_000207.2:p.?	NC_000023.10:g.8536428_8536429insTACCCAAAACTA	VUS	1 lab	b9066bb6d3
3:38763839 SCN10A C>G	3	38763839	38763839	C	G	SCN10A	c.3417G>C	NM_006514.3	NP_006505.3:p.(Trp1139Cys)	NC_000003.11:g.38763839C>G	VUS	1 lab	b9083d0b90
1:156107455 LMNA T>C	1	156107455	156107455	T	C	LMNA	c.1619T>C	NM_170707.3	NP_733821.1:p.(Met540Thr)	NC_000001.10:g.156107455T>C	(Likely) pathogenic	1 lab	b908c8e104
15:75688624 SIN3A T>TG	15	75688624	75688626	T	TG	SIN3A	c.2067dup	NM_001145358.2	NP_001138830.1:p.(Ile690HisfsTer8)	NC_000015.9:g.75688626dup	(Likely) pathogenic	1 lab	0dfe960d27
9:127982907 RABEPK C>G	9	127982907	127982907	C	G	RABEPK	c.454C>G	NM_001174152.1	NP_001167623.1:p.(Leu152Val)	NC_000009.11:g.127982907C>G	VUS	1 lab	b90c1aa10f
11:64575147 MEN1 C>A	11	64575147	64575147	C	A	MEN1	c.660G>T	NM_130799.2	NP_570711.1:p.(Trp220Cys)	NC_000011.9:g.64575147C>A	(Likely) pathogenic	1 lab	0e00821972
14:69392382 ACTN1 G>A	14	69392382	69392382	G	A	ACTN1	c.113C>T	NM_001130004.2	NP_001123476.1:p.(Thr38Met)	NC_000014.8:g.69392382G>A	VUS	1 lab	b90e73d724
21:35147132 ITSN1 G>A	21	35147132	35147132	G	A	ITSN1	c.1405G>A	NM_003024.3	NP_003015.2:p.(Val469Ile)	NC_000021.8:g.35147132G>A	VUS	1 lab	0e0242a6d6
13:32929455 BRCA2 T>G	13	32929455	32929455	T	G	BRCA2	c.7435+30T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32929455T>G	(Likely) benign	1 lab	b911cc7c34
10:102510648 PAX2 G>A	10	102510648	102510648	G	A	PAX2	c.410G>A	NM_003988.4	NP_003979.2:p.(Arg137Lys)	NC_000010.10:g.102510648G>A	VUS	1 lab	b914a70e72
11:101323770 TRPC6 C>T	11	101323770	101323770	C	T	TRPC6	c.2712G>A	NM_004621.5	NP_004612.2:p.(Gln904=)	NC_000011.9:g.101323770C>T	(Likely) benign	1 lab	b91611630f
9:73168145 TRPM3 G>A	9	73168145	73168145	G	A	TRPM3				NC_000009.11:g.73168145G>A	VUS	1 lab	b91644b0fb
9:36217396 GNE A>G	9	36217396	36217396	A	G	GNE	c.2135T>C	NM_005476.5	NP_005467.1:p.(Met712Thr)	NC_000009.11:g.36217396A>G	(Likely) pathogenic	1 lab	b9172553d7
5:139493960 PURA G>C	5	139493960	139493960	G	C	PURA	c.194G>C	NM_005859.5	NP_005850.1:p.(Arg65Pro)	NC_000005.9:g.139493960G>C	VUS	1 lab	b918773d9c
13:32915033 BRCA2 G>T	13	32915033	32915033	G	T	BRCA2	c.6541G>T	NM_000059.3	NP_000050.2:p.(Gly2181Ter)	NC_000013.10:g.32915033G>T	(Likely) pathogenic	1 lab	b918839c65
7:92733766 SAMD9 C>T	7	92733766	92733766	C	T	SAMD9	c.1645G>A	NM_017654.3	NP_060124.2:p.(Val549Met)	NC_000007.13:g.92733766C>T	VUS	1 lab	b9189108a7
X:154189382 F8 A>C	X	154189382	154189382	A	C	F8	c.1505T>G	NM_000132.3	NP_000123.1:p.(Val502Gly)	NC_000023.10:g.154189382A>C	(Likely) pathogenic	1 lab	11f950f23f
1:216496947 USH2A G>A	1	216496947	216496947	G	A	USH2A	c.1419C>T	NM_206933.2	NP_996816.2:p.(Thr473=)	NC_000001.10:g.216496947G>A	(Likely) benign	1 lab	b91a845b5a
6:64431599 EYS T>TA	6	64431599	64431600	T	TA	EYS	c.8327dup	NM_001142800.1	NP_001136272.1:p.(Thr2777AsnfsTer35)	NC_000006.11:g.64431600dup	(Likely) pathogenic	1 lab	b91b2f07a4
1:231557310 EGLN1 T>C	1	231557310	231557310	T	C	EGLN1	c.325A>G	NM_022051.3	NP_071334.1:p.(Lys109Glu)	NC_000001.10:g.231557310T>C	(Likely) benign	1 lab	b91c055fb3
10:123246732 FGFR2 TTTCTAAGGCCAGCTCCTGCACC>T	10	123246732	123246759	TTTCTAAGGCCAGCTCCTGCACC	T	FGFR2	c.2057+114_2057+135del	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123246738_123246759del	(Likely) benign	1 lab	b91c604dcf
20:31024384 ASXL1 C>T	20	31024384	31024384	C	T	ASXL1	c.3869C>T	NM_015338.6	NP_056153.2:p.(Ala1290Val)	NC_000020.10:g.31024384C>T	VUS	1 lab	0e03047d9a
1:154401691 IL6R G>C	1	154401691	154401691	G	C	IL6R	c.105G>C	NM_000565.4	NP_000556.1:p.(Leu35=)	NC_000001.10:g.154401691G>C	(Likely) benign	1 lab	11fb52d8f2
13:32950958 BRCA2 C>T	13	32950958	32950958	C	T	BRCA2	c.8754+30C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32950958C>T	(Likely) benign	1 lab	b920452ade
12:2789609 CACNA1C A>G	12	2789609	2789609	A	G	CACNA1C	c.5588+647A>G	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2789609A>G	(Likely) benign	1 lab	b920efc0ef
10:102510450 PAX2 G>A	10	102510450	102510450	G	A	PAX2	c.213-1G>A	NM_003988.5	NP_003979.2:p.?	NC_000010.10:g.102510450G>A	(Likely) pathogenic	1 lab	b92383aabf
18:43490602 EPG5 G>A	18	43490602	43490602	G	A	EPG5	c.4089C>T	NM_020964.2	NP_066015.2:p.(His1363=)	NC_000018.9:g.43490602G>A	(Likely) benign	1 lab	b9264721b8
5:112111437 APC A>C	5	112111437	112111437	A	C	APC	c.531+3A>C	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112111437A>C	(Likely) pathogenic	1 lab	b927889527
6:111701354 REV3L C>T	6	111701354	111701354	C	T	REV3L	c.1285G>A	NM_002912.5	NP_002903.3:p.(Glu429Lys)	NC_000006.11:g.111701354C>T	VUS	1 lab	0e05bb35ca
1:236914853 ACTN2 C>T	1	236914853	236914853	C	T	ACTN2	c.1116C>T	NM_001278344.2	NP_001265273.1:p.(Asn372=)	NC_000001.10:g.236914853C>T	(Likely) benign	1 lab	0e05e9fa24
10:18430131 CACNB2 A>T	10	18430131	18430131	A	T	CACNB2	c.23A>T	NM_201571.3	NP_963865.2:p.(Asp8Val)	NC_000010.10:g.18430131A>T	(Likely) benign	1 lab	b92d3b13f7
2:167266302 SCN7A C>A	2	167266302	167266302	C	A	SCN7A	c.3855G>T	NM_002976.3	NP_002967.2:p.(Trp1285Cys)	NC_000002.11:g.167266302C>A	VUS	1 lab	b92f19344a
17:33430631 RAD51D C>T	17	33430631	33430631	C	T	RAD51D	c.577-68G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430631C>T	(Likely) benign	1 lab	b93091778d
1:91403880 ZNF644 G>C	1	91403880	91403880	G	C	ZNF644				NC_000001.10:g.91403880G>C	VUS	1 lab	b93375e99c
X:136649562 ZIC3 G>A	X	136649562	136649562	G	A	ZIC3	c.712G>A	NM_003413.4	NP_003404.1:p.(Ala238Thr)	NC_000023.10:g.136649562G>A	VUS	1 lab	b9377da298
X:49845378 CLCN5 G>C	X	49845378	49845378	G	C	CLCN5	c.516+5G>C	NM_000084.4	NP_000075.1:p.?	NC_000023.10:g.49845378G>C	(Likely) pathogenic	1 lab	b93915905b
1:35250653 GJB3 A>C	1	35250653	35250653	A	C	GJB3	c.290A>C	NM_024009.2	NP_076872.1:p.(Tyr97Ser)	NC_000001.10:g.35250653A>C	(Likely) benign	1 lab	b93f5dcc74
17:63049709 GNA13 C>T	17	63049709	63049709	C	T	GNA13	c.421G>A	NM_006572.6	NP_006563.2:p.(Val141Ile)	NC_000017.10:g.63049709C>T	(Likely) benign	1 lab	11fcfd55d2
10:105796819 COL17A1 A>G	10	105796819	105796819	A	G	COL17A1	c.3261T>C	NM_000494.4	NP_000485.3:p.(Ile1087=)	NC_000010.10:g.105796819A>G	(Likely) benign	1 lab	0e0838f77c
20:62297400 RTEL1 T>C	20	62297400	62297400	T	C	RTEL1	c.654T>C	NM_032957.4	NP_116575.3:p.(Ile218=)	NC_000020.10:g.62297400T>C	(Likely) benign	1 lab	b949b9f8d9
3:87311343 POU1F1 T>G	3	87311343	87311343	T	G	POU1F1	c.482A>C	NM_000306.4	NP_000297.1:p.(His161Pro)	NC_000003.11:g.87311343T>G	VUS	1 lab	b94b06ea74
18:19353627 MIB1 G>A	18	19353627	19353627	G	A	MIB1	c.574G>A	NM_020774.3	NP_065825.1:p.(Ala192Thr)	NC_000018.9:g.19353627G>A	VUS	1 lab	b94f6ff7bc
7:143095148 EPHA1 G>A	7	143095148	143095148	G	A	EPHA1	c.1480C>T	NM_005232.4	NP_005223.4:p.(Gln494Ter)	NC_000007.13:g.143095148G>A	VUS	1 lab	b9515134fe
11:119549290 NECTIN1 C>T	11	119549290	119549290	C	T	NECTIN1	c.265G>A	NM_002855.5	NP_002846.3:p.(Val89Met)	NC_000011.9:g.119549290C>T	(Likely) pathogenic	1 lab	b955fb0ea9
6:7585625 DSP A>G	6	7585625	7585625	A	G	DSP	c.8130A>G	NM_004415.4	NP_004406.2:p.(Ala2710=)	NC_000006.11:g.7585625A>G	(Likely) benign	1 lab	b95b93ade1
16:86613301 FOXL1 GCTCGGGATCCCCTTC>G	16	86613301	86613319	GCTCGGGATCCCCTTC	G	FOXL1	c.976_990del	NM_005250.3	NP_005241.1:p.(Gly326_Leu330del)	NC_000016.9:g.86613305_86613319del	(Likely) benign	1 lab	0e09061b10
1:103444621 COL11A1 G>A	1	103444621	103444621	G	A	COL11A1	c.2650C>T	NM_001854.4	NP_001845.3:p.(Pro884Ser)	NC_000001.10:g.103444621G>A	(Likely) pathogenic	1 lab	b9656a1b2a
3:37038108 MLH1 A>T	3	37038108	37038108	A	T	MLH1	c.117-2A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37038108A>T	(Likely) pathogenic	1 lab	b9662c2b90
17:7916495 GUCY2D T>G	17	7916495	7916495	T	G	GUCY2D	c.2188T>G	NM_000180.4	NP_000171.1:p.(Phe730Val)	NC_000017.10:g.7916495T>G	VUS	1 lab	b966b71f80
3:48610488 COL7A1 C>A	3	48610488	48610488	C	A	COL7A1	c.6716G>T	NM_000094.3	NP_000085.1:p.(Gly2239Val)	NC_000003.11:g.48610488C>A	(Likely) pathogenic	1 lab	b966feea46
18:28666707 DSC2 T>A	18	28666707	28666707	T	A	DSC2	c.776-2A>T	NM_024422.6	NP_077740.1:p.?	NC_000018.9:g.28666707T>A	(Likely) pathogenic	1 lab	b96ac0f2f8
17:54926558 DGKE A>T	17	54926558	54926558	A	T	DGKE	c.1063A>T	NM_003647.3	NP_003638.1:p.(Thr355Ser)	NC_000017.10:g.54926558A>T	VUS	1 lab	b971c54b87
X:76944369 MISSING T>C	X	76944369	76944369	T	C	MISSING				NC_000023.10:g.76944369T>C	(Likely) pathogenic	1 lab	ba3c92c1c7
17:18039052 MYO15A G>A	17	18039052	18039052	G	A	MYO15A	c.4510G>A	NM_016239.3	NP_057323.3:p.(Val1504Met)	NC_000017.10:g.18039052G>A	VUS	1 lab	b9758ffa8e
5:112175656 APC T>TA	5	112175656	112175659	T	TA	APC	c.4368dup	NM_000038.6	NP_000029.2:p.(Ala1457SerfsTer5)	NC_000005.9:g.112175659dup	(Likely) pathogenic	1 lab	b976fab9b4
2:48925838 LHCGR G>C	2	48925838	48925838	G	C	LHCGR	c.782C>G	NM_000233.3	NP_000224.2:p.(Ser261Ter)	NC_000002.11:g.48925838G>C	(Likely) pathogenic	1 lab	b9779d61f2
2:166210891 SCN2A G>A	2	166210891	166210891	G	A	SCN2A	c.3109G>A	NM_021007.2	NP_066287.2:p.(Asp1037Asn)	NC_000002.11:g.166210891G>A	VUS	1 lab	b977c535f0
20:42788645 JPH2 G>T	20	42788645	42788645	G	T	JPH2	c.782C>A	NM_020433.4	NP_065166.2:p.(Ala261Glu)	NC_000020.10:g.42788645G>T	(Likely) benign	1 lab	b97991ddce
10:70191631 DNA2 C>T	10	70191631	70191631	C	T	DNA2	c.1971G>A	NM_001080449.2	NP_001073918.2:p.(Thr657=)	NC_000010.10:g.70191631C>T	(Likely) benign	1 lab	b97b6e1c0c
6:35782404 LHFPL5 C>T	6	35782404	35782404	C	T	LHFPL5	c.494C>T	NM_182548.3	NP_872354.1:p.(Thr165Met)	NC_000006.11:g.35782404C>T	(Likely) pathogenic	1 lab	b981622db7
X:102192679 RAB40AL G>A	X	102192679	102192679	G	A	RAB40AL				NC_000023.10:g.102192679G>A	VUS	1 lab	b9816c7bd2
2:165947350 SCN3A C>T	2	165947350	165947350	C	T	SCN3A	c.5313G>A	NM_006922.4	NP_008853.3:p.(Leu1771=)	NC_000002.11:g.165947350C>T	(Likely) benign	1 lab	b98376a923
9:135202277 SETX CAG>C	9	135202277	135202281	CAG	C	SETX	c.4706_4707del	NM_015046.6	NP_055861.3:p.(Ser1569Ter)	NC_000009.11:g.135202280_135202281del	(Likely) pathogenic	1 lab	b984183cf0
3:136141888 STAG1 T>C	3	136141888	136141888	T	C	STAG1	c.1651-2A>G	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136141888T>C	(Likely) benign	1 lab	b9855fe398
22:37471220 TMPRSS6 C>T	22	37471220	37471220	C	T	TMPRSS6	c.1324G>A	NM_153609.3	NP_705837.1:p.(Gly442Arg)	NC_000022.10:g.37471220C>T	(Likely) pathogenic	1 lab	b985b304ed
2:54880897 SPTBN1 CAG>C	2	54880897	54880899	CAG	C	SPTBN1	c.5730_5731del	NM_003128.2	NP_003119.2:p.(Asp1912GlnfsTer35)	NC_000002.11:g.54880898_54880899del	(Likely) pathogenic	1 lab	b987fc7a15
X:54482998 FGD1 ACT>A	X	54482998	54483002	ACT	A	FGD1	c.1637_1638del	NM_004463.2	NP_004454.2:p.(Lys546IlefsTer24)	NC_000023.10:g.54483001_54483002del	(Likely) pathogenic	1 lab	b98ab01618
19:7706656 STXBP2 C>T	19	7706656	7706656	C	T	STXBP2	c.495C>T	NM_006949.4	NP_008880.2:p.(Arg165=)	NC_000019.9:g.7706656C>T	(Likely) benign	1 lab	b98d6ed81b
12:49418614 KMT2D G>C	12	49418614	49418614	G	C	KMT2D	c.15900C>G	NM_003482.3	NP_003473.3:p.(Ala5300=)	NC_000012.11:g.49418614G>C	(Likely) benign	1 lab	12014d974c
4:95170839 SMARCAD1 G>A	4	95170839	95170839	G	A	SMARCAD1	c.740G>A	NM_001128429.3	NP_001121901.1:p.(Ser247Asn)	NC_000004.11:g.95170839G>A	(Likely) benign	1 lab	0e0fed9a1c
17:62021206 SCN4A C>G	17	62021206	62021206	C	G	SCN4A	c.3917G>C	NM_000334.4	NP_000325.4:p.(Gly1306Ala)	NC_000017.10:g.62021206C>G	(Likely) pathogenic	1 lab	b98f4d4f9d
11:111965555 SDHD A>T	11	111965555	111965555	A	T	SDHD	c.341A>T	NM_003002.2	NP_002993.1:p.(Tyr114Phe)	NC_000011.9:g.111965555A>T	(Likely) pathogenic	1 lab	b991792745
5:73981255 HEXB G>A	5	73981255	73981255	G	A	HEXB	c.170G>A	NM_000521.3	NP_000512.1:p.(Trp57Ter)	NC_000005.9:g.73981255G>A	(Likely) pathogenic	1 lab	b9926320dc
1:216462662 USH2A T>A	1	216462662	216462662	T	A	USH2A	c.1931A>T	NM_206933.2	NP_996816.2:p.(Asp644Val)	NC_000001.10:g.216462662T>A	(Likely) benign	1 lab	b993943919
3:129247650 RHO A>C	3	129247650	129247650	A	C	RHO	c.74A>C	NM_000539.3	NP_000530.1:p.(Glu25Ala)	NC_000003.11:g.129247650A>C	VUS	1 lab	b99799e7a4
16:31471057 ARMC5 T>C	16	31471057	31471057	T	C	ARMC5	c.212T>C	NM_001105247.1	NP_001098717.1:p.(Leu71Pro)	NC_000016.9:g.31471057T>C	VUS	1 lab	b99924223e
18:32455230 DTNA T>C	18	32455230	32455230	T	C	DTNA	c.1690T>C	NM_001390.4	NP_001381.2:p.(Ser564Pro)	NC_000018.9:g.32455230T>C	(Likely) benign	1 lab	b9999bebc4
2:179666915 TTN G>T	2	179666915	179666915	G	T	TTN	c.245C>A	NM_133378.4	NP_596869.4:p.(Ala82Asp)	NC_000002.11:g.179666915G>T	VUS	1 lab	b99b092f45
2:179644055 TTN A>C	2	179644055	179644055	A	C	TTN	c.3864T>G	NM_001267550.2	NP_001254479.2:p.(Ala1288=)	NC_000002.11:g.179644055A>C	(Likely) benign	1 lab	b99bcdd051
2:47635584 MSH2 G>T	2	47635584	47635584	G	T	MSH2	c.256G>T	NM_000251.3	NP_000242.1:p.(Glu86Ter)	NC_000002.11:g.47635584G>T	(Likely) pathogenic	1 lab	b99d4f186b
9:131644545 LRRC8A G>C	9	131644545	131644545	G	C	LRRC8A	c.-116+16G>C	NM_019594.3	NP_062540.2:p.?	NC_000009.11:g.131644545G>C	(Likely) benign	1 lab	1204888a18
2:167168062 SCN9A C>T	2	167168062	167168062	C	T	SCN9A	c.205G>A	NM_001365536.1	NP_001352465.1:p.(Gly69Ser)	NC_000002.11:g.167168062C>T	(Likely) benign	1 lab	b9a1bc260f
14:68260877 ZFYVE26 A>T	14	68260877	68260877	A	T	ZFYVE26	c.2401+11T>A	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68260877A>T	(Likely) benign	1 lab	b9a306aa24
16:16315534 ABCC6 C>T	16	16315534	16315534	C	T	ABCC6	c.191G>A	NM_001171.6	NP_001162.5:p.(Arg64Gln)	NC_000016.9:g.16315534C>T	VUS	1 lab	b9a526dfc0
5:112824060 MCC C>CGCCGCCGCTGCTGGAGCTCCCCGCAGCCGCT	5	112824060	112824099	C	CGCCGCCGCTGCTGGAGCTCCCCGCAGCCGCT	MCC	c.21_51dup	NM_001085377.2	NP_001078846.2:p.(Gly18SerfsTer52)	NC_000005.9:g.112824069_112824099dup	VUS	1 lab	0e10a4ffdc
2:179444897 TTN C>T	2	179444897	179444897	C	T	TTN	c.59413G>A	NM_133378.4	NP_596869.4:p.(Val19805Ile)	NC_000002.11:g.179444897C>T	VUS	1 lab	0e1364fa5d
X:70356309 MED12 G>A	X	70356309	70356309	G	A	MED12	c.5204G>A	NM_005120.3	NP_005111.2:p.(Arg1735His)	NC_000023.10:g.70356309G>A	VUS	1 lab	b9a853fd46
10:18828372 CACNB2 G>C	10	18828372	18828372	G	C	CACNB2	c.1702G>C	NM_201596.2	NP_963890.2:p.(Val568Leu)	NC_000010.10:g.18828372G>C	(Likely) benign	1 lab	b9ac6eefe0
18:13884566 MC2R C>T	18	13884566	13884566	C	T	MC2R	c.*58G>A	NM_000529.2	NP_000520.1:p.?	NC_000018.9:g.13884566C>T	(Likely) benign	1 lab	b9b16d91be
14:31348040 COCH G>A	14	31348040	31348040	G	A	COCH	c.263G>A	NM_004086.2	NP_004077.1:p.(Gly88Glu)	NC_000014.8:g.31348040G>A	(Likely) pathogenic	1 lab	b9b402562b
21:35736570 KCNE2 C>CA	21	35736570	35736571	C	CA	KCNE2	c.-13+121dup	NM_172201.1	NP_751951.1:p.?	NC_000021.8:g.35736571dup	(Likely) benign	1 lab	b9b9d3096e
2:32361932 SPAST T>A	2	32361932	32361932	T	A	SPAST	c.1322-14T>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32361932T>A	(Likely) pathogenic	1 lab	b9bdd9c2b8
1:11897470 CLCN6 C>T	1	11897470	11897470	C	T	CLCN6	c.2209C>T	NM_001286.5	NP_001277.2:p.(Arg737Cys)	NC_000001.10:g.11897470C>T	VUS	1 lab	b9be0e32d4
8:61769280 CHD7 C>T	8	61769280	61769280	C	T	CHD7				NC_000008.10:g.61769280C>T	(Likely) pathogenic	1 lab	b9be9f62f0
18:19093797 GREB1L T>C	18	19093797	19093797	T	C	GREB1L	c.4751T>C	NM_001142966.3	NP_001136438.1:p.(Leu1584Pro)	NC_000018.9:g.19093797T>C	(Likely) pathogenic	1 lab	b9bf4454c3
X:76829787 ATRX C>T	X	76829787	76829787	C	T	ATRX	c.6254G>A	NM_000489.3	NP_000480.2:p.(Arg2085His)	NC_000023.10:g.76829787C>T	(Likely) pathogenic	1 lab	b9c0107af4
13:20763705 GJB2 G>C	13	20763705	20763705	G	C	GJB2	c.16C>G	NM_004004.5	NP_003995.2:p.(Leu6Val)	NC_000013.10:g.20763705G>C	(Likely) pathogenic	1 lab	b9c1edeea3
19:19308014 RFXANK C>T	19	19308014	19308014	C	T	RFXANK	c.291C>T	NM_003721.2	NP_003712.1:p.(Leu97=)	NC_000019.9:g.19308014C>T	(Likely) benign	1 lab	12061a2a41
9:130251726 LRSAM1 G>A	9	130251726	130251726	G	A	LRSAM1	c.1351G>A	NM_138361.5	NP_612370.3:p.(Ala451Thr)	NC_000009.11:g.130251726G>A	(Likely) benign	1 lab	120629db69
5:154291339 GEMIN5 A>C	5	154291339	154291339	A	C	GEMIN5	c.2115T>G	NM_015465.5	NP_056280.2:p.(Phe705Leu)	NC_000005.9:g.154291339A>C	VUS	1 lab	b9ca88f382
11:108153619 ATM A>G	11	108153619	108153619	A	G	ATM	c.3746+13A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108153619A>G	(Likely) benign	1 lab	b9cc06d815
11:17466045 ABCC8 A>C	11	17466045	17466045	A	C	ABCC8	c.1333-1186T>G	NM_000352.4	NP_000343.2:p.?	NC_000011.9:g.17466045A>C	(Likely) benign	1 lab	b9d1c519dc
1:24180962 FUCA1 T>C	1	24180962	24180962	T	C	FUCA1	c.857A>G	NM_000147.4	NP_000138.2:p.(Gln286Arg)	NC_000001.10:g.24180962T>C	(Likely) benign	1 lab	b9d26d67ec
16:57691325 ADGRG1 T>C	16	57691325	57691325	T	C	ADGRG1	c.1208T>C	NM_005682.5	NP_005673.3:p.(Leu403Pro)	NC_000016.9:g.57691325T>C	VUS	1 lab	b9d506973d
2:220283174 DES G>C	2	220283174	220283174	G	C	DES	c.-11G>C	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220283174G>C	(Likely) benign	1 lab	b9d5ea77f2
6:152688434 SYNE1 C>T	6	152688434	152688434	C	T	SYNE1				NC_000006.11:g.152688434C>T	(Likely) benign	1 lab	b9e16cebdd
13:32937671 BRCA2 G>A	13	32937671	32937671	G	A	BRCA2	c.8331+1G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937671G>A	(Likely) pathogenic	1 lab	b9e4ae73ba
7:6027227 PMS2 G>C	7	6027227	6027227	G	C	PMS2	c.1169C>G	NM_000535.7	NP_000526.2:p.(Ala390Gly)	NC_000007.13:g.6027227G>C	(Likely) benign	1 lab	b9e6b40606
1:879375 SAMD11 C>T	1	879375	879375	C	T	SAMD11	c.1888C>T	NM_152486.2	NP_689699.2:p.(Arg630Ter)	NC_000001.10:g.879375C>T	VUS	1 lab	b9e8bef9e0
8:17915077 ASAH1 A>G	8	17915077	17915077	A	G	ASAH1	c.1154T>C	NM_177924.5	NP_808592.2:p.(Leu385Pro)	NC_000008.10:g.17915077A>G	VUS	1 lab	0e16767951
1:24123212 GALE T>C	1	24123212	24123212	T	C	GALE	c.770A>G	NM_000403.4	NP_000394.2:p.(Lys257Arg)	NC_000001.10:g.24123212T>C	(Likely) benign	1 lab	120a4d14c2
16:27414339 IL21R T>C	16	27414339	27414339	T	C	IL21R	c.-91-62T>C	NM_181079.5	NP_851565.4:p.?	NC_000016.9:g.27414339T>C	(Likely) benign	1 lab	1465eb0143
10:104596817 CYP17A1 C>G	10	104596817	104596817	C	G	CYP17A1	c.297+5G>C	NM_000102.3	NP_000093.1:p.?	NC_000010.10:g.104596817C>G	(Likely) pathogenic	1 lab	b9f06334b9
13:23907033 SACS G>A	13	23907033	23907033	G	A	SACS	c.10982C>T	NM_014363.5	NP_055178.3:p.(Ala3661Val)	NC_000013.10:g.23907033G>A	(Likely) benign	1 lab	b9f07be66c
3:165548206 BCHE C>G	3	165548206	165548206	C	G	BCHE	c.616G>C	NM_000055.3	NP_000046.1:p.(Val206Leu)	NC_000003.11:g.165548206C>G	VUS	1 lab	b9f18748d1
9:86586235 HNRNPK T>C	9	86586235	86586235	T	C	HNRNPK	c.1045A>G	NM_002140.5	NP_002131.2:p.(Ile349Val)	NC_000009.11:g.86586235T>C	VUS	1 lab	0e19c590d2
3:38766792 SCN10A T>C	3	38766792	38766792	T	C	SCN10A	c.3101A>G	NM_006514.4	NP_006505.4:p.(Gln1034Arg)	NC_000003.11:g.38766792T>C	(Likely) benign	1 lab	b9f28c683a
17:79477957 ACTG1 A>G	17	79477957	79477957	A	G	ACTG1				NC_000017.10:g.79477957A>G	(Likely) benign	1 lab	b9f7954e75
2:232952184 DIS3L2 C>T	2	232952184	232952184	C	T	DIS3L2	c.367-13C>T	NM_152383.4	NP_689596.4:p.?	NC_000002.11:g.232952184C>T	(Likely) benign	1 lab	b9fac07592
11:31816253 PAX6 G>A	11	31816253	31816253	G	A	PAX6	c.607C>T	NM_000280.4	NP_000271.1:p.(Arg203Ter)	NC_000011.9:g.31816253G>A	(Likely) pathogenic	1 lab	b9fb0b0079
17:48278874 COL1A1 T>C	17	48278874	48278874	T	C	COL1A1	c.1A>G	NM_000088.4	NP_000079.2:p.(Met1?)	NC_000017.10:g.48278874T>C	(Likely) pathogenic	1 lab	b9ffaa240a
1:156105885 LMNA G>A	1	156105885	156105885	G	A	LMNA	c.1130G>A	NM_170707.4	NP_733821.1:p.(Arg377His)	NC_000001.10:g.156105885G>A	(Likely) pathogenic	1 lab	b9ffee8b82
11:64514822 PYGM G>C	11	64514822	64514822	G	C	PYGM	c.2186C>G	NM_005609.4	NP_005600.1:p.(Ala729Gly)	NC_000011.9:g.64514822G>C	VUS	1 lab	1ba08c59e9
4:15516357 CC2D2A G>A	4	15516357	15516357	G	A	CC2D2A	c.745G>A	NM_001080522.2	NP_001073991.2:p.(Asp249Asn)	NC_000004.11:g.15516357G>A	VUS	1 lab	ba0662e352
16:3297199 MEFV C>T	16	3297199	3297199	C	T	MEFV	c.1404G>A	NM_000243.2	NP_000234.1:p.(Gln468=)	NC_000016.9:g.3297199C>T	VUS	1 lab	120a89ace8
8:15508338 TUSC3 C>T	8	15508338	15508338	C	T	TUSC3	c.426+15C>T	NM_006765.4	NP_006756.2:p.?	NC_000008.10:g.15508338C>T	(Likely) benign	1 lab	0e1f43c2b2
9:71650701 FXN G>T	9	71650701	71650701	G	T	FXN	c.3G>T	NM_000144.4	NP_000135.2:p.(Met1?)	NC_000009.11:g.71650701G>T	(Likely) pathogenic	1 lab	ba098b3cf4
11:108155206 ATM G>T	11	108155206	108155206	G	T	ATM	c.3993+6G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108155206G>T	(Likely) benign	1 lab	ba0e98a6e1
X:153762707 G6PD A>G	X	153762707	153762707	A	G	G6PD	c.490T>C	NM_001360016.2	NP_001346945.1:p.(Trp164Arg)	NC_000023.10:g.153762707A>G	(Likely) pathogenic	1 lab	ba0ec111c4
12:91449224 KERA G>A	12	91449224	91449224	G	A	KERA				NC_000012.11:g.91449224G>A	(Likely) pathogenic	1 lab	ba12539e25
12:23793804 SOX5 G>A	12	23793804	23793804	G	A	SOX5				NC_000012.11:g.23793804G>A	VUS	1 lab	ba12bb1217
18:42532866 SETBP1 C>G	18	42532866	42532866	C	G	SETBP1	c.3561C>G	NM_015559.2	NP_056374.2:p.(Ser1187Arg)	NC_000018.9:g.42532866C>G	VUS	1 lab	ba16b16b47
5:136969737 KLHL3 C>T	5	136969737	136969737	C	T	KLHL3	c.1439G>A	NM_017415.2	NP_059111.2:p.(Arg480His)	NC_000005.9:g.136969737C>T	VUS	1 lab	ba17df35bb
19:616028 HCN2 G>A	19	616028	616028	G	A	HCN2	c.2224G>A	NM_001194.3	NP_001185.3:p.(Val742Met)	NC_000019.9:g.616028G>A	(Likely) benign	1 lab	ba18695350
2:167151096 SCN9A A>G	2	167151096	167151096	A	G	SCN9A	c.965+13T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167151096A>G	(Likely) benign	1 lab	ba1a2e4310
7:128481030 FLNC T>G	7	128481030	128481030	T	G	FLNC	c.1813+6T>G	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128481030T>G	(Likely) benign	1 lab	ba1df22dc0
10:67748545 CTNNA3 G>T	10	67748545	67748545	G	T	CTNNA3	c.2170C>A	NM_013266.4	NP_037398.2:p.(Pro724Thr)	NC_000010.10:g.67748545G>T	VUS	1 lab	0e20b7ec56
1:63894406 ALG6 C>T	1	63894406	63894406	C	T	ALG6	c.1061C>T	NM_013339.3	NP_037471.2:p.(Pro354Leu)	NC_000001.10:g.63894406C>T	(Likely) pathogenic	1 lab	ba1e27c653
2:223096817 PAX3 G>A	2	223096817	223096817	G	A	PAX3				NC_000002.11:g.223096817G>A	(Likely) pathogenic	1 lab	ba22e0e30f
2:217297491 SMARCAL1 T>C	2	217297491	217297491	T	C	SMARCAL1	c.1385T>C	NM_014140.3	NP_054859.2:p.(Leu462Pro)	NC_000002.11:g.217297491T>C	(Likely) pathogenic	1 lab	ba22e34dd9
9:130425484 STXBP1 G>T	9	130425484	130425484	G	T	STXBP1	c.430G>T	NM_001032221.6	NP_001027392.1:p.(Val144Phe)	NC_000009.11:g.130425484G>T	(Likely) pathogenic	1 lab	ba24e44ce8
7:25163660 CYCS G>A	7	25163660	25163660	G	A	CYCS	c.79C>T	NM_018947.6	NP_061820.1:p.(His27Tyr)	NC_000007.13:g.25163660G>A	VUS	1 lab	ba24fec47a
9:140652476 EHMT1 G>T	9	140652476	140652476	G	T	EHMT1	c.1501+13G>T	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140652476G>T	(Likely) benign	1 lab	ba2bc4dc3f
10:75855609 VCL TA>T	10	75855609	75855612	TA	T	VCL	c.1742del	NM_014000.3	NP_054706.1:p.(Lys581ArgfsTer3)	NC_000010.10:g.75855612del	VUS	1 lab	0e2166a9d5
19:44251845 SMG9 G>A	19	44251845	44251845	G	A	SMG9	c.430C>T	NM_019108.2	NP_061981.2:p.(Gln144Ter)	NC_000019.9:g.44251845G>A	(Likely) pathogenic	1 lab	ba31246dad
1:74941180 TNNI3K G>C	1	74941180	74941180	G	C	TNNI3K	c.2121+11946G>C	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74941180G>C	(Likely) benign	1 lab	ba31b3d8b0
6:32007370 TNXB A>T	6	32007370	32007370	A	T	TNXB				NC_000006.11:g.32007370A>T	VUS	1 lab	ba346ad5d6
11:64520990 PYGM C>T	11	64520990	64520990	C	T	PYGM	c.1403+1G>A	NM_005609.2	NP_005600.1:p.?	NC_000011.9:g.64520990C>T	(Likely) pathogenic	1 lab	ba356351cf
2:179481886 TTN A>G	2	179481886	179481886	A	G	TTN	c.47836T>C	NM_001267550.2	NP_001254479.2:p.(Ser15946Pro)	NC_000002.11:g.179481886A>G	(Likely) benign	1 lab	ba3aedbeff
1:215814001 USH2A A>C	1	215814001	215814001	A	C	USH2A	c.14867T>G	NM_206933.4	NP_996816.3:p.(Leu4956Arg)	NC_000001.10:g.215814001A>C	VUS	1 lab	ba3d3ff2a4
11:126145221 FOXRED1 G>A	11	126145221	126145221	G	A	FOXRED1	c.632-1G>A	NM_017547.4	NP_060017.1:p.?	NC_000011.9:g.126145221G>A	(Likely) pathogenic	1 lab	ba3d7b817f
5:150696498 SLC36A2 G>A	5	150696498	150696498	G	A	SLC36A2	c.1332C>T	NM_181776.3	NP_861441.2:p.(Asp444=)	NC_000005.9:g.150696498G>A	(Likely) benign	1 lab	0e2ba32aa7
14:23874031 MYH6 C>T	14	23874031	23874031	C	T	MYH6	c.531G>A	NM_002471.3	NP_002462.2:p.(Thr177=)	NC_000014.8:g.23874031C>T	(Likely) benign	1 lab	ba413e8926
11:118037639 SCN2B G>A	11	118037639	118037639	G	A	SCN2B	c.611C>T	NM_004588.4	NP_004579.1:p.(Thr204Met)	NC_000011.9:g.118037639G>A	(Likely) benign	1 lab	ba4232f7f4
22:17690339 ADA2 T>G	22	17690339	17690339	T	G	ADA2	c.229A>C	NM_001282225.2	NP_001269154.1:p.(Thr77Pro)	NC_000022.10:g.17690339T>G	VUS	1 lab	0e2cc5704e
14:102493804 DYNC1H1 G>A	14	102493804	102493804	G	A	DYNC1H1	c.8971G>A	NM_001376.4	NP_001367.2:p.(Ala2991Thr)	NC_000014.8:g.102493804G>A	VUS	1 lab	ba4a89039c
7:91863805 KRIT1 T>C	7	91863805	91863805	T	C	KRIT1	c.947A>G	NM_194456.1	NP_919438.1:p.(Gln316Arg)	NC_000007.13:g.91863805T>C	VUS	1 lab	ba2d226483
14:77493830 IRF2BPL CGCGGCGGCGGCGGCGGCCGCCGCTGCTGCCGCCGCCGCCGCCGCTTCCTTAGCCGACAGGGCCACTGTCTTGACCCCGACGG>C	14	77493830	77493923	CGCGGCGGCGGCGGCGGCCGCCGCTGCTGCCGCCGCCGCCGCCGCTTCCTTAGCCGACAGGGCCACTGTCTTGACCCCGACGG	C	IRF2BPL	c.224_305del	NM_024496.4	NP_078772.1:p.(Pro75ArgfsTer50)	NC_000014.8:g.77493842_77493923del	(Likely) benign	1 lab	0e2ddc32fb
17:10427874 MYH2 C>T	17	10427874	10427874	C	T	MYH2	c.5084G>A	NM_017534.5	NP_060004.3:p.(Arg1695Gln)	NC_000017.10:g.10427874C>T	VUS	1 lab	ba52bab881
4:151849985 LRBA C>T	4	151849985	151849985	C	T	LRBA	c.448+1G>A	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151849985C>T	(Likely) pathogenic	1 lab	ba53e4fab2
22:36681272 MYH9 T>C	22	36681272	36681272	T	C	MYH9	c.5378A>G	NM_002473.4	NP_002464.1:p.(Lys1793Arg)	NC_000022.10:g.36681272T>C	(Likely) benign	1 lab	ba55809723
11:123513183 SCN3B C>T	11	123513183	123513183	C	T	SCN3B	c.416G>A	NM_018400.3	NP_060870.1:p.(Arg139Gln)	NC_000011.9:g.123513183C>T	VUS	1 lab	ba5795a220
15:89865989 POLG C>T	15	89865989	89865989	C	T	POLG	c.2410G>A	NM_002693.3	NP_002684.1:p.(Ala804Thr)	NC_000015.9:g.89865989C>T	VUS	1 lab	ba59a94a93
9:5123096 JAK2 T>C	9	5123096	5123096	T	C	JAK2	c.3152T>C	NM_004972.3	NP_004963.1:p.(Ile1051Thr)	NC_000009.11:g.5123096T>C	(Likely) benign	1 lab	121169d16d
X:154743882 TMLHE T>C	X	154743882	154743882	T	C	TMLHE	c.403A>G	NM_018196.4	NP_060666.1:p.(Lys135Glu)	NC_000023.10:g.154743882T>C	(Likely) benign	1 lab	0e318d70e9
16:68835885 CDH1 G>A	16	68835885	68835885	G	A	CDH1	c.387+89G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68835885G>A	(Likely) benign	1 lab	ba60996bcd
1:155874524 RIT1 G>C	1	155874524	155874524	G	C	RIT1	c.235C>G	NM_006912.6	NP_008843.1:p.(Gln79Glu)	NC_000001.10:g.155874524G>C	VUS	1 lab	ba634559c6
2:179395919 TTN G>C	2	179395919	179395919	G	C	TTN	c.97719C>G	NM_133378.4	NP_596869.4:p.(Tyr32573Ter)	NC_000002.11:g.179395919G>C	(Likely) pathogenic	1 lab	ba63c8db05
X:43817879 NDP CAT>C	X	43817879	43817881	CAT	C	NDP	c.11_12del	NM_000266.3	NP_000257.1:p.(His4ArgfsTer21)	NC_000023.10:g.43817880_43817881del	(Likely) pathogenic	1 lab	ba65ab50c2
2:179399978 TTN T>C	2	179399978	179399978	T	C	TTN	c.101364A>G	NM_001267550.2	NP_001254479.2:p.(Arg33788=)	NC_000002.11:g.179399978T>C	(Likely) benign	1 lab	ba681c6ae0
18:34289080 FHOD3 C>G	18	34289080	34289080	C	G	FHOD3	c.1734C>G	NM_025135.4	NP_079411.2:p.(Pro578=)	NC_000018.9:g.34289080C>G	(Likely) benign	1 lab	ba68a42a33
14:68274339 ZFYVE26 G>C	14	68274339	68274339	G	C	ZFYVE26	c.662C>G	NM_015346.4	NP_056161.2:p.(Ala221Gly)	NC_000014.8:g.68274339G>C	VUS	1 lab	ba694f6436
17:29652854 NF1 AT>A	17	29652854	29652855	AT	A	NF1	c.4790del	NM_000267.3	NP_000258.1:p.(Ile1597ThrfsTer6)	NC_000017.10:g.29652855del	(Likely) pathogenic	1 lab	ba6b213f70
X:70147696 SLC7A3 G>A	X	70147696	70147696	G	A	SLC7A3	c.995C>T	NM_032803.5	NP_116192.4:p.(Pro332Leu)	NC_000023.10:g.70147696G>A	(Likely) benign	1 lab	ba6cbae624
22:32253499 DEPDC5 G>A	22	32253499	32253499	G	A	DEPDC5	c.3224G>A	NM_001242896.1	NP_001229825.1:p.(Ser1075Asn)	NC_000022.10:g.32253499G>A	(Likely) pathogenic	1 lab	ba7018b9bd
15:36937405 CDIN1 G>T	15	36937405	36937405	G	T	CDIN1	c.148-19G>T	NM_001130010.1	NP_001123482.1:p.?	NC_000015.9:g.36937405G>T	(Likely) benign	1 lab	ba786c249b
X:595296 SHOX G>A	X	595296	595296	G	A	SHOX	c.278-57G>A	NM_000451.4	NP_000442.1:p.?	NC_000023.10:g.595296G>A	VUS	1 lab	ba79adf573
17:78157798 CARD14 AAGG>A	17	78157798	78157804	AAGG	A	CARD14	c.440_442del	NM_024110.4	NP_077015.2:p.(Glu147del)	NC_000017.10:g.78157802_78157804del	(Likely) pathogenic	1 lab	ba7a0e69a6
22:21345973 LZTR1 G>A	22	21345973	21345973	G	A	LZTR1	c.848G>A	NM_006767.3	NP_006758.2:p.(Arg283Gln)	NC_000022.10:g.21345973G>A	(Likely) pathogenic	1 lab	ba7bcdfcdf
17:7573057 TP53 G>A	17	7573057	7573057	G	A	TP53	c.1101-49C>T	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7573057G>A	(Likely) benign	1 lab	ba7be93e67
19:35530071 SCN1B A>C	19	35530071	35530071	A	C	SCN1B	c.499A>C	NM_001037.5	NP_001028.1:p.(Ile167Leu)	NC_000019.9:g.35530071A>C	VUS	1 lab	ba7c2fe58a
2:167159672 SCN9A G>T	2	167159672	167159672	G	T	SCN9A	c.829C>A	NM_002977.3	NP_002968.1:p.(Arg277=)	NC_000002.11:g.167159672G>T	(Likely) benign	1 lab	ba7e6008ff
16:23226429 SCNN1G A>G	16	23226429	23226429	A	G	SCNN1G	c.1589A>G	NM_001039.3	NP_001030.2:p.(Asn530Ser)	NC_000016.9:g.23226429A>G	VUS	1 lab	ba7ed11fc0
1:46661556 POMGNT1 G>T	1	46661556	46661556	G	T	POMGNT1	c.461C>A	NM_017739.3	NP_060209.3:p.(Pro154His)	NC_000001.10:g.46661556G>T	VUS	1 lab	ba8167388c
7:6045666 PMS2 G>A	7	6045666	6045666	G	A	PMS2	c.24-4C>T	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6045666G>A	(Likely) benign	1 lab	ba83943951
2:26739423 OTOF T>C	2	26739423	26739423	T	C	OTOF	c.372A>G	NM_194248.2	NP_919224.1:p.(Thr124=)	NC_000002.11:g.26739423T>C	(Likely) benign	1 lab	ba854e848b
1:156108358 LMNA A>C	1	156108358	156108358	A	C	LMNA	c.1778A>C	NM_170707.3	NP_733821.1:p.(Gln593Pro)	NC_000001.10:g.156108358A>C	VUS	1 lab	ba8936ce96
5:112175151 APC TA>T	5	112175151	112175152	TA	T	APC	c.3861del	NM_000038.6	NP_000029.2:p.(Ile1287MetfsTer18)	NC_000005.9:g.112175152del	(Likely) pathogenic	1 lab	ba8997604e
7:21599301 DNAH11 T>C	7	21599301	21599301	T	C	DNAH11	c.773T>C	NM_001277115.2	NP_001264044.1:p.(Ile258Thr)	NC_000007.13:g.21599301T>C	VUS	1 lab	0e35981716
X:48767201 SLC35A2 C>A	X	48767201	48767201	C	A	SLC35A2	c.164G>T	NM_005660.3	NP_005651.1:p.(Arg55Leu)	NC_000023.10:g.48767201C>A	(Likely) pathogenic	1 lab	ba8bc34d2d
6:33131585 COL11A2 C>A	6	33131585	33131585	C	A	COL11A2	c.5081G>T	NM_080680.2	NP_542411.2:p.(Gly1694Val)	NC_000006.11:g.33131585C>A	VUS	1 lab	ba8e7076d9
2:73828310 MISSING T>C	2	73828310	73828310	T	C	MISSING				NC_000002.11:g.73828310T>C	(Likely) benign	1 lab	ba8ee51ca3
11:47364714 MYBPC3 G>A	11	47364714	47364714	G	A	MYBPC3	c.1227-18C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364714G>A	(Likely) benign	1 lab	ba96b5e02b
X:17750027 NHS C>T	X	17750027	17750027	C	T	NHS				NC_000023.10:g.17750027C>T	VUS	1 lab	ba975e8e4a
12:49426574 KMT2D G>A	12	49426574	49426574	G	A	KMT2D	c.11914C>T	NM_003482.4	NP_003473.3:p.(Gln3972Ter)	NC_000012.11:g.49426574G>A	(Likely) pathogenic	1 lab	ba97eab592
2:179437742 TTN C>T	2	179437742	179437742	C	T	TTN	c.73117G>A	NM_001267550.2	NP_001254479.2:p.(Val24373Ile)	NC_000002.11:g.179437742C>T	VUS	1 lab	ba987ddec2
7:128484829 FLNC G>A	7	128484829	128484829	G	A	FLNC	c.3310G>A	NM_001458.5	NP_001449.3:p.(Glu1104Lys)	NC_000007.13:g.128484829G>A	VUS	1 lab	ba99786ae4
13:101721083 NALCN C>T	13	101721083	101721083	C	T	NALCN	c.4381G>A	NM_001350748.1	NP_001337677.1:p.(Val1461Ile)	NC_000013.10:g.101721083C>T	VUS	1 lab	ba9be4b4e7
X:73744384 SLC16A2 A>T	X	73744384	73744384	A	T	SLC16A2				NC_000023.10:g.73744384A>T	(Likely) pathogenic	1 lab	ba9d36be48
X:21627604 CNKSR2 A>C	X	21627604	21627604	A	C	CNKSR2				NC_000023.10:g.21627604A>C	VUS	1 lab	ba9d777339
2:44550418 PREPL G>A	2	44550418	44550418	G	A	PREPL	c.1879C>T	NM_006036.4	NP_006027.2:p.(Gln627Ter)	NC_000002.11:g.44550418G>A	(Likely) pathogenic	1 lab	baa0d8ec52
12:6138597 VWF G>A	12	6138597	6138597	G	A	VWF	c.2878C>T	NM_000552.3	NP_000543.2:p.(Arg960Trp)	NC_000012.11:g.6138597G>A	VUS	1 lab	baa2951ef2
19:49684583 TRPM4 C>T	19	49684583	49684583	C	T	TRPM4	c.1151-23C>T	NM_017636.3	NP_060106.2:p.?	NC_000019.9:g.49684583C>T	(Likely) benign	1 lab	baa781fe29
2:179448343 TTN C>T	2	179448343	179448343	C	T	TTN	c.60643G>A	NM_001256850.1	NP_001243779.1:p.(Ala20215Thr)	NC_000002.11:g.179448343C>T	VUS	1 lab	0e3babbfbb
11:89018098 TYR G>A	11	89018098	89018098	G	A	TYR	c.1342G>A	NM_000372.4	NP_000363.1:p.(Asp448Asn)	NC_000011.9:g.89018098G>A	VUS	1 lab	baaa4de13e
19:52714672 PPP2R1A C>T	19	52714672	52714672	C	T	PPP2R1A	c.430C>T	NM_014225.5	NP_055040.2:p.(Arg144Cys)	NC_000019.9:g.52714672C>T	(Likely) pathogenic	1 lab	baaa83e943
7:113518157 PPP1R3A A>C	7	113518157	113518157	A	C	PPP1R3A	c.2990T>G	NM_002711.4	NP_002702.2:p.(Phe997Cys)	NC_000007.13:g.113518157A>C	(Likely) benign	1 lab	0e3c97dbcc
12:81073010 MISSING T>C	12	81073010	81073010	T	C	MISSING				NC_000012.11:g.81073010T>C	(Likely) benign	1 lab	baada39556
17:45369509 ITGB3 G>A	17	45369509	45369509	G	A	ITGB3	c.1265G>A	NM_000212.2	NP_000203.2:p.(Ser422Asn)	NC_000017.10:g.45369509G>A	VUS	1 lab	baae24400f
2:216232681 FN1 A>G	2	216232681	216232681	A	G	FN1	c.6923T>C	NM_212482.2	NP_997647.1:p.(Val2308Ala)	NC_000002.11:g.216232681A>G	(Likely) benign	1 lab	1211df9d9a
17:33434438 RAD51D A>G	17	33434438	33434438	A	G	RAD51D	c.292T>C	NM_002878.3	NP_002869.3:p.(Tyr98His)	NC_000017.10:g.33434438A>G	VUS	1 lab	bab7c8dbc1
5:147211101 SPINK1 G>C	5	147211101	147211101	G	C	SPINK1	c.40C>G	NM_003122.4	NP_003113.2:p.(Leu14Val)	NC_000005.9:g.147211101G>C	VUS	1 lab	babafaed8e
1:116247871 CASQ2 TCCCGGGCAA>T	1	116247871	116247882	TCCCGGGCAA	T	CASQ2	c.872_880del	NM_001232.3	NP_001223.2:p.(Val291_Arg293del)	NC_000001.10:g.116247874_116247882del	VUS	1 lab	babc504125
8:61654460 CHD7 C>T	8	61654460	61654460	C	T	CHD7				NC_000008.10:g.61654460C>T	(Likely) pathogenic	1 lab	babc97d3e6
18:44109205 LOXHD1 C>T	18	44109205	44109205	C	T	LOXHD1	c.4465G>A	NM_144612.6	NP_653213.6:p.(Gly1489Arg)	NC_000018.9:g.44109205C>T	VUS	1 lab	babd1b5a69
19:6712316 C3 G>A	19	6712316	6712316	G	A	C3	c.1221C>T	NM_000064.3	NP_000055.2:p.(Ala407=)	NC_000019.9:g.6712316G>A	VUS	1 lab	bbfc3212c3
3:10183601 VHL G>A	3	10183601	10183601	G	A	VHL	c.70G>A	NM_000551.3	NP_000542.1:p.(Gly24Ser)	NC_000003.11:g.10183601G>A	(Likely) benign	1 lab	babdc79ea9
3:120371492 HGD A>C	3	120371492	120371492	A	C	HGD	c.289T>G	NM_000187.4	NP_000178.2:p.(Trp97Gly)	NC_000003.11:g.120371492A>C	(Likely) pathogenic	1 lab	bac0f61e97
3:38938733 SCN11A C>T	3	38938733	38938733	C	T	SCN11A	c.2023-17G>A	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38938733C>T	(Likely) benign	1 lab	bac3dcd972
9:139410092 NOTCH1 G>A	9	139410092	139410092	G	A	NOTCH1	c.1746C>T	NM_017617.3	NP_060087.3:p.(Asp582=)	NC_000009.11:g.139410092G>A	(Likely) benign	1 lab	bac4ba08e3
8:61769192 CHD7 A>G	8	61769192	61769192	A	G	CHD7	c.7353A>G	NM_017780.3	NP_060250.2:p.(Ala2451=)	NC_000008.10:g.61769192A>G	VUS	1 lab	bacb1a2299
2:219677473 CYP27A1 G>A	2	219677473	219677473	G	A	CYP27A1	c.844+1G>A	NM_000784.3	NP_000775.1:p.?	NC_000002.11:g.219677473G>A	(Likely) pathogenic	1 lab	bad2b71a23
18:19379936 MIB1 G>A	18	19379936	19379936	G	A	MIB1	c.1371+1G>A	NM_020774.2	NP_065825.1:p.?	NC_000018.9:g.19379936G>A	(Likely) pathogenic	1 lab	bad3c4f0ca
10:69954143 MYPN G>A	10	69954143	69954143	G	A	MYPN	c.2949G>A	NM_032578.3	NP_115967.2:p.(Lys983=)	NC_000010.10:g.69954143G>A	(Likely) benign	1 lab	bad787abcd
17:78190859 SGSH C>T	17	78190859	78190859	C	T	SGSH	c.221G>A	NM_000199.5	NP_000190.1:p.(Arg74His)	NC_000017.10:g.78190859C>T	(Likely) pathogenic	1 lab	bad870c930
9:140127157 SLC34A3 T>C	9	140127157	140127157	T	C	SLC34A3	c.304+2T>C	NM_080877.2	NP_543153.1:p.?	NC_000009.11:g.140127157T>C	(Likely) pathogenic	1 lab	bada06941d
16:89345911 ANKRD11 G>A	16	89345911	89345911	G	A	ANKRD11	c.7039C>T	NM_013275.6	NP_037407.4:p.(Gln2347Ter)	NC_000016.9:g.89345911G>A	(Likely) pathogenic	1 lab	bada11f53a
7:107420134 SLC26A3 C>T	7	107420134	107420134	C	T	SLC26A3	c.1386G>A	NM_000111.2	NP_000102.1:p.(Trp462Ter)	NC_000007.13:g.107420134C>T	(Likely) pathogenic	1 lab	bada927f38
1:152284854 FLG A>G	1	152284854	152284854	A	G	FLG	c.2508T>C	NM_002016.1	NP_002007.1:p.(Asp836=)	NC_000001.10:g.152284854A>G	(Likely) benign	1 lab	badca86436
10:43604611 RET C>T	10	43604611	43604611	C	T	RET	c.1196C>T	NM_020975.6	NP_066124.1:p.(Pro399Leu)	NC_000010.10:g.43604611C>T	(Likely) pathogenic	1 lab	0e47dff1b5
11:123516309 SCN3B C>T	11	123516309	123516309	C	T	SCN3B	c.205G>A	NM_018400.3	NP_060870.1:p.(Gly69Ser)	NC_000011.9:g.123516309C>T	VUS	1 lab	badef5194d
8:41545513 ANK1 A>G	8	41545513	41545513	A	G	ANK1	c.4258+161T>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41545513A>G	(Likely) benign	1 lab	121c954121
11:121000806 TECTA C>A	11	121000806	121000806	C	A	TECTA				NC_000011.9:g.121000806C>A	VUS	1 lab	baea6190f5
17:54925336 DGKE T>A	17	54925336	54925336	T	A	DGKE	c.798T>A	NM_003647.2	NP_003638.1:p.(Leu266=)	NC_000017.10:g.54925336T>A	(Likely) benign	1 lab	baebf0a5dd
7:6022544 PMS2 G>A	7	6022544	6022544	G	A	PMS2	c.2085C>T	NM_000535.7	NP_000526.2:p.(Ile695=)	NC_000007.13:g.6022544G>A	(Likely) benign	1 lab	baecb3dcff
5:37371040 NUP155 T>C	5	37371040	37371040	T	C	NUP155	c.40A>G	NM_153485.2	NP_705618.1:p.(Thr14Ala)	NC_000005.9:g.37371040T>C	(Likely) benign	1 lab	baeda53ec9
1:43396414 SLC2A1 G>T	1	43396414	43396414	G	T	SLC2A1	c.399C>A	NM_006516.2	NP_006507.2:p.(Cys133Ter)	NC_000001.10:g.43396414G>T	(Likely) pathogenic	1 lab	baf23d19a0
2:47672819 MSH2 T>G	2	47672819	47672819	T	G	MSH2	c.1386+23T>G	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47672819T>G	(Likely) benign	1 lab	baf4d48d70
5:43644880 NNT C>G	5	43644880	43644880	C	G	NNT	c.1266C>G	NM_012343.3	NP_036475.3:p.(Val422=)	NC_000005.9:g.43644880C>G	(Likely) benign	1 lab	baf9cca34d
1:45806053 MUTYH G>A	1	45806053	45806053	G	A	MUTYH	c.-127C>T	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45806053G>A	(Likely) benign	1 lab	bafcda2757
4:88535785 DSPP C>T	4	88535785	88535785	C	T	DSPP	c.1971C>T	NM_014208.3	NP_055023.2:p.(Ser657=)	NC_000004.11:g.88535785C>T	(Likely) benign	1 lab	bafd2e31f8
5:112174739 APC G>T	5	112174739	112174739	G	T	APC	c.3448G>T	NM_000038.6	NP_000029.2:p.(Glu1150Ter)	NC_000005.9:g.112174739G>T	(Likely) pathogenic	1 lab	baff6ac09b
X:49071984 CACNA1F C>T	X	49071984	49071984	C	T	CACNA1F	c.3256G>A	NM_001256789.3	NP_001243718.1:p.(Asp1086Asn)	NC_000023.10:g.49071984C>T	VUS	1 lab	bb1e389c0d
11:118343789 KMT2A AAAGAAGGTCTTATTCGCAAACC>A	11	118343789	118343813	AAAGAAGGTCTTATTCGCAAACC	A	KMT2A	c.1918_1939del	NM_001197104.2	NP_001184033.1:p.(Glu640TyrfsTer10)	NC_000011.9:g.118343792_118343813del	(Likely) pathogenic	1 lab	bb019dc8a8
14:23883073 MYH7 C>G	14	23883073	23883073	C	G	MYH7	c.5685G>C	NM_000257.2	NP_000248.2:p.(Lys1895Asn)	NC_000014.8:g.23883073C>G	VUS	1 lab	bb0419d24a
1:24130889 HMGCL C>G	1	24130889	24130889	C	G	HMGCL	c.876+1G>C	NM_000191.2	NP_000182.2:p.?	NC_000001.10:g.24130889C>G	(Likely) pathogenic	1 lab	bb084c308c
5:149776355 TCOF1 G>C	5	149776355	149776355	G	C	TCOF1	c.4292G>C	NM_001135243.1	NP_001128715.1:p.(Gly1431Ala)	NC_000005.9:g.149776355G>C	(Likely) benign	1 lab	bb08dac6e5
2:48025733 MSH6 C>A	2	48025733	48025733	C	A	MSH6	c.628-17C>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48025733C>A	(Likely) benign	1 lab	bb097b7b09
9:135139840 SETX T>C	9	135139840	135139840	T	C	SETX	c.7820A>G	NM_015046.5	NP_055861.3:p.(Glu2607Gly)	NC_000009.11:g.135139840T>C	VUS	1 lab	bb0fa4119d
3:38797286 SCN10A C>T	3	38797286	38797286	C	T	SCN10A	c.1454G>A	NM_006514.3	NP_006505.3:p.(Arg485His)	NC_000003.11:g.38797286C>T	(Likely) benign	1 lab	bb10a3adf2
6:157528786 ARID1B C>T	6	157528786	157528786	C	T	ARID1B	c.6511C>T	NM_020732.3	NP_065783.3:p.(Gln2171Ter)	NC_000006.11:g.157528786C>T	(Likely) pathogenic	1 lab	bb10ced109
2:45169703 SIX3 AACC>A	2	45169703	45169708	AACC	A	SIX3	c.463_465del	NM_005413.3	NP_005404.1:p.(His155del)	NC_000002.11:g.45169706_45169708del	(Likely) pathogenic	1 lab	bb138bd2a1
14:23852545 MYH6 T>G	14	23852545	23852545	T	G	MYH6	c.5566-16A>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852545T>G	(Likely) benign	1 lab	bb15b3b64c
5:147504305 SPINK5 C>CT	5	147504305	147504314	C	CT	SPINK5	c.2667-14dup	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147504314dup	(Likely) benign	1 lab	0e4a61bce9
3:46021218 FYCO1 G>T	3	46021218	46021218	G	T	FYCO1	c.267C>A	NM_024513.4	NP_078789.2:p.(Arg89=)	NC_000003.11:g.46021218G>T	(Likely) benign	1 lab	0e4ac82f35
1:228404227 OBSCN C>G	1	228404227	228404227	C	G	OBSCN	c.2201C>G	NM_001271223.2	NP_001258152.2:p.(Ala734Gly)	NC_000001.10:g.228404227C>G	(Likely) benign	1 lab	bb1798da50
1:225594417 LBR G>C	1	225594417	225594417	G	C	LBR	c.1432C>G	NM_002296.4	NP_002287.2:p.(His478Asp)	NC_000001.10:g.225594417G>C	(Likely) pathogenic	1 lab	bb1914dbee
1:39906891 MACF1 C>G	1	39906891	39906891	C	G	MACF1	c.12394-5C>G	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39906891C>G	VUS	1 lab	bb1b8e2529
16:2140826 PKD1 T>C	16	2140826	2140826	T	C	PKD1	c.12004-17A>G	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2140826T>C	(Likely) benign	1 lab	121d7708e6
7:155596082 SHH GC>G	7	155596082	155596086	GC	G	SHH	c.900del	NM_000193.4	NP_000184.1:p.(Pro301LeufsTer35)	NC_000007.13:g.155596086del	(Likely) pathogenic	1 lab	bb1f9d2f49
3:38793930 SCN10A C>T	3	38793930	38793930	C	T	SCN10A	c.1535G>A	NM_006514.3	NP_006505.3:p.(Arg512Gln)	NC_000003.11:g.38793930C>T	VUS	1 lab	bb21a67da2
1:196920148 CFHR2 C>T	1	196920148	196920148	C	T	CFHR2	c.420C>T	NM_005666.3	NP_005657.1:p.(Cys140=)	NC_000001.10:g.196920148C>T	(Likely) benign	1 lab	bb25dd8b55
11:108183175 ATM A>G	11	108183175	108183175	A	G	ATM	c.5956A>G	NM_000051.3	NP_000042.3:p.(Ile1986Val)	NC_000011.9:g.108183175A>G	(Likely) benign	1 lab	bb25f3e676
X:22051130 PHEX GCAGAAA>G	X	22051130	22051139	GCAGAAA	G	PHEX	c.11_16del	NM_000444.6	NP_000435.3:p.(Glu4_Thr5del)	NC_000023.10:g.22051134_22051139del	VUS	1 lab	0e4b41a10d
X:142718483 SLITRK4 G>A	X	142718483	142718483	G	A	SLITRK4	c.442C>T	NM_001184749.1	NP_001171678.1:p.(Arg148Ter)	NC_000023.10:g.142718483G>A	(Likely) pathogenic	1 lab	bb2a6bab7a
7:151947983 KMT2C T>A	7	151947983	151947983	T	A	KMT2C	c.1690A>T	NM_170606.2	NP_733751.2:p.(Lys564Ter)	NC_000007.13:g.151947983T>A	VUS	1 lab	bb2ad8b662
X:24549859 PDK3 T>A	X	24549859	24549859	T	A	PDK3	c.1049T>A	NM_001142386.3	NP_001135858.1:p.(Val350Glu)	NC_000023.10:g.24549859T>A	VUS	1 lab	0e4d879bdc
19:41930487 BCKDHA T>A	19	41930487	41930487	T	A	BCKDHA	c.1312T>A	NM_000709.4	NP_000700.1:p.(Tyr438Asn)	NC_000019.9:g.41930487T>A	(Likely) pathogenic	1 lab	0e5018a9e4
2:179451837 TTN ATACT>A	2	179451837	179451847	ATACT	A	TTN	c.64093+4_64093+7del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179451844_179451847del	VUS	1 lab	0e50b572b4
8:144999074 PLEC G>A	8	144999074	144999074	G	A	PLEC	c.5434C>T	NM_201380.3	NP_958782.1:p.(Arg1812Trp)	NC_000008.10:g.144999074G>A	VUS	1 lab	bb2e3d09e9
17:18042164 MYO15A C>G	17	18042164	18042164	C	G	MYO15A	c.5047C>G	NM_016239.4	NP_057323.3:p.(His1683Asp)	NC_000017.10:g.18042164C>G	VUS	1 lab	bb2ec5f378
6:152679615 SYNE1 G>T	6	152679615	152679615	G	T	SYNE1	c.10501C>A	NM_182961.4	NP_892006.3:p.(Leu3501Ile)	NC_000006.11:g.152679615G>T	VUS	1 lab	bb2ecefd94
22:40662984 TNRC6B G>C	22	40662984	40662984	G	C	TNRC6B	c.2750G>C	NM_001162501.2	NP_001155973.1:p.(Gly917Ala)	NC_000022.10:g.40662984G>C	(Likely) benign	1 lab	0e571f429c
11:119158665 CBL G>T	11	119158665	119158665	G	T	CBL	c.2036+9G>T	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119158665G>T	(Likely) benign	1 lab	bb30ce5612
11:819486 PNPLA2 T>C	11	819486	819486	T	C	PNPLA2	c.-145-88T>C	NM_020376.4	NP_065109.1:p.?	NC_000011.9:g.819486T>C	(Likely) benign	1 lab	121f4f3073
13:48523120 SUCLA2 TC>T	13	48523120	48523122	TC	T	SUCLA2	c.1271del	NM_003850.2	NP_003841.1:p.(Gly424AspfsTer18)	NC_000013.10:g.48523122del	(Likely) pathogenic	1 lab	bb3466847c
19:36228163 KMT2B C>T	19	36228163	36228163	C	T	KMT2B	c.7549C>T	NM_014727.2	NP_055542.1:p.(Arg2517Trp)	NC_000019.9:g.36228163C>T	(Likely) pathogenic	1 lab	bb377e1a57
19:13338343 CACNA1A T>C	19	13338343	13338343	T	C	CACNA1A	c.5529-2A>G	NM_001127222.1	NP_001120694.1:p.?	NC_000019.9:g.13338343T>C	VUS	1 lab	bb3958f253
7:92157749 PEX1 T>C	7	92157749	92157749	T	C	PEX1	c.1A>G	NM_000466.3	NP_000457.1:p.(Met1?)	NC_000007.13:g.92157749T>C	(Likely) pathogenic	1 lab	bb3a38a5b7
2:167056104 SCN9A T>G	2	167056104	167056104	T	G	SCN9A	c.5012A>C	NM_002977.3	NP_002968.1:p.(Glu1671Ala)	NC_000002.11:g.167056104T>G	VUS	1 lab	bb3a708cb4
4:104577415 TACR3 C>T	4	104577415	104577415	C	T	TACR3	c.824G>A	NM_001059.2	NP_001050.1:p.(Trp275Ter)	NC_000004.11:g.104577415C>T	(Likely) pathogenic	1 lab	bb3b49c041
17:61498050 TANC2 CGTCA>C	17	61498050	61498059	CGTCA	C	TANC2	c.4713_4716del	NM_025185.3	NP_079461.2:p.(Gln1572PhefsTer41)	NC_000017.10:g.61498056_61498059del	(Likely) pathogenic	1 lab	bb3fe3a37f
1:155646413 YY1AP1 G>A	1	155646413	155646413	G	A	YY1AP1	c.664C>T	NM_001198903.1	NP_001185832.1:p.(Gln222Ter)	NC_000001.10:g.155646413G>A	VUS	1 lab	bb40407e88
2:179593760 TTN A>G	2	179593760	179593760	A	G	TTN	c.19005T>C	NM_001267550.2	NP_001254479.2:p.(Asp6335=)	NC_000002.11:g.179593760A>G	(Likely) benign	1 lab	bb412e51af
12:48372154 COL2A1 C>T	12	48372154	48372154	C	T	COL2A1	c.2923G>A	NM_001844.5	NP_001835.3:p.(Gly975Ser)	NC_000012.11:g.48372154C>T	(Likely) pathogenic	1 lab	bb42268c55
17:29679341 NF1 T>TC	17	29679341	29679343	T	TC	NF1	c.7526dup	NM_001042492.3	NP_001035957.1:p.(Thr2510AsnfsTer26)	NC_000017.10:g.29679343dup	(Likely) pathogenic	1 lab	bb422d4d69
15:73862702 NPTN GT>G	15	73862702	73862704	GT	G	NPTN	c.902del	NM_012428.3	NP_036560.1:p.(Asn301ThrfsTer3)	NC_000015.9:g.73862704del	VUS	1 lab	bb4305a5cc
7:92763331 SAMD9L C>T	7	92763331	92763331	C	T	SAMD9L	c.1954G>A	NM_152703.5	NP_689916.2:p.(Val652Ile)	NC_000007.13:g.92763331C>T	(Likely) benign	1 lab	1222605a40
16:2150068 PKD1 G>A	16	2150068	2150068	G	A	PKD1	c.9717C>T	NM_001009944.2	NP_001009944.2:p.(Asp3239=)	NC_000016.9:g.2150068G>A	(Likely) benign	1 lab	1223d21a11
12:110034285 MVK T>C	12	110034285	110034285	T	C	MVK	c.1094T>C	NM_000431.2	NP_000422.1:p.(Phe365Ser)	NC_000012.11:g.110034285T>C	VUS	1 lab	1224a6c2bb
12:23716269 SOX5 G>A	12	23716269	23716269	G	A	SOX5	c.1411C>T	NM_006940.6	NP_008871.3:p.(Arg471Ter)	NC_000012.11:g.23716269G>A	(Likely) pathogenic	1 lab	bb51eed365
18:55322634 ATP8B1 A>G	18	55322634	55322634	A	G	ATP8B1	c.2723T>C	NM_005603.6	NP_005594.2:p.(Val908Ala)	NC_000018.9:g.55322634A>G	VUS	1 lab	bb53290a05
7:151292395 PRKAG2 A>AT	7	151292395	151292396	A	AT	PRKAG2	c.864+35_864+36insA	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151292395_151292396insT	(Likely) benign	1 lab	bb5336a4f1
22:29092956 CHEK2 A>C	22	29092956	29092956	A	C	CHEK2	c.1028T>G	NM_007194.3	NP_009125.1:p.(Ile343Ser)	NC_000022.10:g.29092956A>C	VUS	1 lab	bb539f034d
16:90097878 DRC4 G>A	16	90097878	90097878	G	A	DRC4	c.262G>A	NM_001481.3	NP_001472.1:p.(Glu88Lys)	NC_000016.9:g.90097878G>A	VUS	1 lab	bb53bfb6cc
2:109381786 RANBP2 C>T	2	109381786	109381786	C	T	RANBP2	c.4791C>T	NM_006267.4	NP_006258.3:p.(Ser1597=)	NC_000002.11:g.109381786C>T	(Likely) benign	1 lab	1224dc162a
7:5567688 ACTB C>T	7	5567688	5567688	C	T	ACTB	c.931G>A	NM_001101.3	NP_001092.1:p.(Asp311Asn)	NC_000007.13:g.5567688C>T	(Likely) pathogenic	1 lab	bb58b0514f
15:43908399 STRC G>C	15	43908399	43908399	G	C	STRC	c.1365C>G	NM_153700.2	NP_714544.1:p.(Cys455Trp)	NC_000015.9:g.43908399G>C	(Likely) pathogenic	1 lab	bb593c8a77
2:179721072 CCDC141 T>A	2	179721072	179721072	T	A	CCDC141	c.2777A>T	NM_173648.4	NP_775919.3:p.(Asn926Ile)	NC_000002.11:g.179721072T>A	VUS	1 lab	bb5b39afc9
7:107335067 SLC26A4 C>T	7	107335067	107335067	C	T	SLC26A4	c.1343C>T	NM_000441.1	NP_000432.1:p.(Ser448Leu)	NC_000007.13:g.107335067C>T	(Likely) pathogenic	1 lab	bb5c792b75
17:42427099 GRN G>A	17	42427099	42427099	G	A	GRN	c.329G>A	NM_002087.2	NP_002078.1:p.(Arg110Gln)	NC_000017.10:g.42427099G>A	VUS	1 lab	12281ecf4c
6:36238446 PNPLA1 G>A	6	36238446	36238446	G	A	PNPLA1	c.205+5G>A	NM_001374623.1	NP_001361552.1:p.?	NC_000006.11:g.36238446G>A	(Likely) pathogenic	1 lab	bb5d5f6eb8
4:186435507 PDLIM3 G>A	4	186435507	186435507	G	A	PDLIM3	c.331-16C>T	NM_014476.6	NP_055291.2:p.?	NC_000004.11:g.186435507G>A	(Likely) benign	1 lab	122c2a9d49
12:88486457 CEP290 C>T	12	88486457	88486457	C	T	CEP290	c.3461+1G>A	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88486457C>T	(Likely) pathogenic	1 lab	bb61a1d207
1:9784400 PIK3CD C>T	1	9784400	9784400	C	T	PIK3CD	c.2785C>T	NM_005026.3	NP_005017.3:p.(Arg929Cys)	NC_000001.10:g.9784400C>T	VUS	1 lab	bb63d5b956
10:89311981 MINPP1 C>T	10	89311981	89311981	C	T	MINPP1	c.1210C>T	NM_004897.4	NP_004888.2:p.(Arg404Ter)	NC_000010.10:g.89311981C>T	VUS	1 lab	bb6436df54
19:36577732 WDR62 C>T	19	36577732	36577732	C	T	WDR62	c.1768+18C>T	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36577732C>T	(Likely) benign	1 lab	bb69533152
12:33049498 PKP2 G>A	12	33049498	33049498	G	A	PKP2	c.168C>T	NM_004572.3	NP_004563.2:p.(Ile56=)	NC_000012.11:g.33049498G>A	(Likely) benign	1 lab	bb69d0deed
17:12899252 ELAC2 C>T	17	12899252	12899252	C	T	ELAC2	c.1698+5G>A	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12899252C>T	VUS	1 lab	1bcd6f9541
2:20169317 WDR35 C>A	2	20169317	20169317	C	A	WDR35	c.932G>T	NM_001006657.1	NP_001006658.1:p.(Trp311Leu)	NC_000002.11:g.20169317C>A	VUS	1 lab	bb6f7dcfce
22:36700175 MYH9 A>G	22	36700175	36700175	A	G	MYH9	c.2256T>C	NM_002473.4	NP_002464.1:p.(Asn752=)	NC_000022.10:g.36700175A>G	(Likely) benign	1 lab	bb71562bd3
X:54495275 FGD1 T>C	X	54495275	54495275	T	C	FGD1	c.1136A>G	NM_004463.2	NP_004454.2:p.(Asn379Ser)	NC_000023.10:g.54495275T>C	(Likely) benign	1 lab	bb71c31d23
7:299881 FAM20C A>G	7	299881	299881	A	G	FAM20C	c.1690A>G	NM_020223.4	NP_064608.2:p.(Asn564Asp)	NC_000007.13:g.299881A>G	(Likely) benign	1 lab	0e59c1a7f7
21:34655665 IL10RB T>C	21	34655665	34655665	T	C	IL10RB				NC_000021.8:g.34655665T>C	(Likely) benign	1 lab	12d0249341
16:89352058 ANKRD11 C>G	16	89352058	89352058	C	G	ANKRD11	c.893-1G>C	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89352058C>G	(Likely) pathogenic	1 lab	bb72d505d8
2:167322405 SCN7A G>C	2	167322405	167322405	G	C	SCN7A	c.757C>G	NM_002976.4	NP_002967.2:p.(Leu253Val)	NC_000002.11:g.167322405G>C	VUS	1 lab	bb73d029a6
1:247587996 NLRP3 C>T	1	247587996	247587996	C	T	NLRP3	c.1245C>T	NM_001243133.2	NP_001230062.1:p.(Ile415=)	NC_000001.10:g.247587996C>T	(Likely) benign	1 lab	122e199ce9
17:33434380 RAD51D T>A	17	33434380	33434380	T	A	RAD51D	c.345+5A>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33434380T>A	(Likely) benign	1 lab	bb794a504e
3:123441071 MYLK T>C	3	123441071	123441071	T	C	MYLK	c.1708A>G	NM_053025.3	NP_444253.3:p.(Ile570Val)	NC_000003.11:g.123441071T>C	(Likely) benign	1 lab	bb7adc12be
X:12940137 TLR8 G>A	X	12940137	12940137	G	A	TLR8	c.2978G>A	NM_138636.5	NP_619542.1:p.(Arg993Gln)	NC_000023.10:g.12940137G>A	VUS	1 lab	bb7b070387
16:31473836 ARMC5 G>C	16	31473836	31473836	G	C	ARMC5	c.968G>C	NM_001105247.2	NP_001098717.1:p.(Gly323Ala)	NC_000016.9:g.31473836G>C	(Likely) benign	1 lab	123207e615
12:88505426 CEP290 A>G	12	88505426	88505426	A	G	CEP290	c.2217+45T>C	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88505426A>G	(Likely) benign	1 lab	1235aa6e4c
X:148037133 AFF2 C>T	X	148037133	148037133	C	T	AFF2	c.1558C>T	NM_002025.3	NP_002016.2:p.(Pro520Ser)	NC_000023.10:g.148037133C>T	(Likely) benign	1 lab	bb7fdda894
14:29237130 FOXG1 C>A	14	29237130	29237130	C	A	FOXG1	c.645C>A	NM_005249.5	NP_005240.3:p.(Phe215Leu)	NC_000014.8:g.29237130C>A	(Likely) pathogenic	1 lab	bb82505578
2:227958840 COL4A4 C>T	2	227958840	227958840	C	T	COL4A4	c.1369+1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227958840C>T	(Likely) pathogenic	1 lab	bb850b9d88
11:64572588 MEN1 C>G	11	64572588	64572588	C	G	MEN1	c.1268G>C	NM_130799.2	NP_570711.1:p.(Trp423Ser)	NC_000011.9:g.64572588C>G	(Likely) pathogenic	1 lab	bb865ac3dc
12:52115570 SCN8A T>A	12	52115570	52115570	T	A	SCN8A	c.1876T>A	NM_014191.3	NP_055006.1:p.(Ser626Thr)	NC_000012.11:g.52115570T>A	VUS	1 lab	bb86f6ef3f
2:190436485 SLC40A1 T>C	2	190436485	190436485	T	C	SLC40A1	c.470A>G	NM_014585.6	NP_055400.1:p.(Asp157Gly)	NC_000002.11:g.190436485T>C	(Likely) pathogenic	1 lab	bb8c45e0dc
16:84256290 KCNG4 G>A	16	84256290	84256290	G	A	KCNG4	c.1093C>T	NM_172347.2	NP_758857.1:p.(Arg365Cys)	NC_000016.9:g.84256290G>A	(Likely) benign	1 lab	bb8f4efe24
4:77288509 CCDC158 C>T	4	77288509	77288509	C	T	CCDC158	c.1768G>A	NM_001042784.1	NP_001036249.1:p.(Val590Ile)	NC_000004.11:g.77288509C>T	VUS	1 lab	bb90e68422
10:226058 ZMYND11 C>T	10	226058	226058	C	T	ZMYND11	c.106C>T	NM_001370100.5	NP_001357029.1:p.(Arg36Cys)	NC_000010.10:g.226058C>T	(Likely) pathogenic	1 lab	bb915ceb68
16:58036527 USB1 G>A	16	58036527	58036527	G	A	USB1	c.243G>A	NM_024598.3	NP_078874.2:p.(Trp81Ter)	NC_000016.9:g.58036527G>A	(Likely) pathogenic	1 lab	bb94333867
22:38525530 PLA2G6 C>G	22	38525530	38525530	C	G	PLA2G6	c.1117G>C	NM_003560.4	NP_003551.2:p.(Gly373Arg)	NC_000022.10:g.38525530C>G	(Likely) pathogenic	1 lab	bb9437e6a5
7:151164205 RHEB T>A	7	151164205	151164205	T	A	RHEB	c.555A>T	NM_005614.4	NP_005605.1:p.(Ter185CysextTer6)	NC_000007.13:g.151164205T>A	VUS	1 lab	bb946c2a00
1:215963624 USH2A C>T	1	215963624	215963624	C	T	USH2A	c.9959G>A	NM_206933.2	NP_996816.2:p.(Gly3320Asp)	NC_000001.10:g.215963624C>T	VUS	1 lab	bb94dcac72
3:130095493 COL6A5 G>A	3	130095493	130095493	G	A	COL6A5	c.481G>A	NM_001278298.1	NP_001265227.1:p.(Gly161Arg)	NC_000003.11:g.130095493G>A	VUS	1 lab	0e5c48f975
18:29111095 DSG2 A>G	18	29111095	29111095	A	G	DSG2	c.1160A>G	NM_001943.5	NP_001934.2:p.(His387Arg)	NC_000018.9:g.29111095A>G	(Likely) benign	1 lab	bb98ae7c9e
3:119101248 ARHGAP31 T>C	3	119101248	119101248	T	C	ARHGAP31	c.539+2T>C	NM_020754.4	NP_065805.2:p.?	NC_000003.11:g.119101248T>C	VUS	1 lab	0e5d9e277e
2:166904061 SCN1A G>A	2	166904061	166904061	G	A	SCN1A	c.1170+76C>T	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166904061G>A	(Likely) benign	1 lab	123c35badc
6:33146902 COL11A2 C>T	6	33146902	33146902	C	T	COL11A2	c.1559G>A	NM_080680.2	NP_542411.2:p.(Gly520Asp)	NC_000006.11:g.33146902C>T	VUS	1 lab	bb9f1c4b4f
X:41524600 CASK A>C	X	41524600	41524600	A	C	CASK	c.638T>G	NM_003688.3	NP_003679.2:p.(Leu213Arg)	NC_000023.10:g.41524600A>C	VUS	1 lab	bb9ff005b1
11:108158433 ATM A>T	11	108158433	108158433	A	T	ATM	c.4100A>T	NM_000051.3	NP_000042.3:p.(Asp1367Val)	NC_000011.9:g.108158433A>T	VUS	1 lab	bba0b531a0
12:111856515 SH2B3 G>A	12	111856515	111856515	G	A	SH2B3	c.566G>A	NM_005475.3	NP_005466.1:p.(Arg189Gln)	NC_000012.11:g.111856515G>A	VUS	1 lab	0e60cdac5a
19:13409696 CACNA1A C>T	19	13409696	13409696	C	T	CACNA1A				NC_000019.9:g.13409696C>T	(Likely) benign	1 lab	bba3f5774a
2:105473187 POU3F3 C>G	2	105473187	105473187	C	G	POU3F3	c.1219C>G	NM_006236.2	NP_006227.1:p.(Arg407Gly)	NC_000002.11:g.105473187C>G	VUS	1 lab	bba93d82df
X:153296140 MECP2 A>AC	X	153296140	153296141	A	AC	MECP2	c.1174dup	NM_001110792.2	NP_001104262.1:p.(Val392GlyfsTer13)	NC_000023.10:g.153296141dup	(Likely) pathogenic	1 lab	bbab6b6eb9
9:138660512 KCNT1 C>T	9	138660512	138660512	C	T	KCNT1	c.1394C>T	NM_020822.2	NP_065873.2:p.(Thr465Met)	NC_000009.11:g.138660512C>T	VUS	1 lab	bbac5acc9d
17:33428300 RAD51D G>A	17	33428300	33428300	G	A	RAD51D	c.823C>T	NM_002878.4	NP_002869.3:p.(Arg275Trp)	NC_000017.10:g.33428300G>A	VUS	1 lab	bbb9a9444d
3:41267064 CTNNB1 G>T	3	41267064	41267064	G	T	CTNNB1	c.734+1G>T	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41267064G>T	(Likely) pathogenic	1 lab	bbbe5789cf
10:26285432 MYO3A G>A	10	26285432	26285432	G	A	MYO3A	c.317G>A	NM_017433.4	NP_059129.3:p.(Gly106Glu)	NC_000010.10:g.26285432G>A	VUS	1 lab	bbbed16557
19:10469919 TYK2 G>A	19	10469919	10469919	G	A	TYK2	c.2107C>T	NM_003331.4	NP_003322.3:p.(Arg703Trp)	NC_000019.9:g.10469919G>A	VUS	1 lab	bbc4981cb4
10:76788246 KAT6B G>A	10	76788246	76788246	G	A	KAT6B				NC_000010.10:g.76788246G>A	(Likely) pathogenic	1 lab	bbd327c865
X:107834398 COL4A5 G>A	X	107834398	107834398	G	A	COL4A5	c.1276G>A	NM_033380.2	NP_203699.1:p.(Gly426Arg)	NC_000023.10:g.107834398G>A	(Likely) pathogenic	1 lab	bbd4d35ad9
19:6709704 C3 C>T	19	6709704	6709704	C	T	C3	c.1836G>A	NM_000064.3	NP_000055.2:p.(Thr612=)	NC_000019.9:g.6709704C>T	(Likely) benign	1 lab	bbd5bed710
2:48033753 MSH6 G>T	2	48033753	48033753	G	T	MSH6	c.3964G>T	NM_000179.2	NP_000170.1:p.(Glu1322Ter)	NC_000002.11:g.48033753G>T	(Likely) pathogenic	1 lab	bbd654a4c7
2:157184915 NR4A2 C>T	2	157184915	157184915	C	T	NR4A2	c.994+1G>A	NM_006186.4	NP_006177.1:p.?	NC_000002.11:g.157184915C>T	(Likely) pathogenic	1 lab	bbd7937c20
8:145737702 RECQL4 G>A	8	145737702	145737702	G	A	RECQL4	c.3061C>T	NM_004260.4	NP_004251.4:p.(Arg1021Trp)	NC_000008.10:g.145737702G>A	(Likely) pathogenic	1 lab	bbd81d8dd5
1:237550575 RYR2 A>ATT	1	237550575	237550577	A	ATT	RYR2	c.577-5_577-4insTT	NM_001035.2	NP_001026.2:p.?	NC_000001.10:g.237550576_237550577insTT	(Likely) benign	1 lab	bbde7b5119
8:10512511 RP1L1 G>C	8	10512511	10512511	G	C	RP1L1	c.-123C>G	NM_178857.5	NP_849188.4:p.?	NC_000008.10:g.10512511G>C	(Likely) benign	1 lab	bbdfdb296f
20:3195933 ITPA G>A	20	3195933	3195933	G	A	ITPA	c.270G>A	NM_033453.3	NP_258412.1:p.(Trp90Ter)	NC_000020.10:g.3195933G>A	(Likely) pathogenic	1 lab	bbe327f92f
4:187194296 F11 G>A	4	187194296	187194296	G	A	F11	c.290G>A	NM_000128.3	NP_000119.1:p.(Gly97Glu)	NC_000004.11:g.187194296G>A	(Likely) pathogenic	1 lab	bbe57859fb
X:153297787 MECP2 T>C	X	153297787	153297787	T	C	MECP2	c.284A>G	NM_001110792.1	NP_001104262.1:p.(Gln95Arg)	NC_000023.10:g.153297787T>C	VUS	1 lab	bbedac110f
5:112174236 APC C>A	5	112174236	112174236	C	A	APC	c.2945C>A	NM_000038.6	NP_000029.2:p.(Ser982Ter)	NC_000005.9:g.112174236C>A	(Likely) pathogenic	1 lab	bbef8f7f21
7:128640545 TNPO3 C>T	7	128640545	128640545	C	T	TNPO3	c.949G>A	NM_012470.3	NP_036602.1:p.(Gly317Ser)	NC_000007.13:g.128640545C>T	(Likely) benign	1 lab	bbf34b0812
6:152793468 SYNE1 C>A	6	152793468	152793468	C	A	SYNE1				NC_000006.11:g.152793468C>A	(Likely) benign	1 lab	bbf50b4528
2:179616482 TTN G>A	2	179616482	179616482	G	A	TTN	c.11311+1369C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616482G>A	VUS	1 lab	bbf8226a39
22:42607885 TCF20 T>TACCA	22	42607885	42607889	T	TACCA	TCF20				NC_000022.10:g.42607886_42607889dup	(Likely) pathogenic	1 lab	bbf8d47d03
1:110172109 AMPD2 G>A	1	110172109	110172109	G	A	AMPD2				NC_000001.10:g.110172109G>A	(Likely) pathogenic	1 lab	bc01f8f9ea
17:79478104 ACTG1 G>A	17	79478104	79478104	G	A	ACTG1	c.833C>T	NM_001614.3	NP_001605.1:p.(Thr278Ile)	NC_000017.10:g.79478104G>A	(Likely) pathogenic	1 lab	bc0304e927
14:23866713 MYH6 A>G	14	23866713	23866713	A	G	MYH6	c.1962+39T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23866713A>G	(Likely) benign	1 lab	bc062a1549
7:128488877 FLNC A>G	7	128488877	128488877	A	G	FLNC	c.4768A>G	NM_001458.5	NP_001449.3:p.(Ile1590Val)	NC_000007.13:g.128488877A>G	(Likely) benign	1 lab	bc06f8f198
1:74818946 TNNI3K T>C	1	74818946	74818946	T	C	TNNI3K	c.933-4T>C	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74818946T>C	(Likely) benign	1 lab	bc0767b740
10:121411359 BAG3 G>A	10	121411359	121411359	G	A	BAG3	c.172G>A	NM_004281.3	NP_004272.2:p.(Gly58Ser)	NC_000010.10:g.121411359G>A	VUS	1 lab	bc0d60de14
10:73491849 CDH23 A>G	10	73491849	73491849	A	G	CDH23	c.3821A>G	NM_022124.6	NP_071407.4:p.(Glu1274Gly)	NC_000010.10:g.73491849A>G	VUS	1 lab	bc1180cb05
3:38760120 SCN10A A>T	3	38760120	38760120	A	T	SCN10A	c.3681+24T>A	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38760120A>T	(Likely) benign	1 lab	bc11f83fca
16:30975414 SETD1A G>A	16	30975414	30975414	G	A	SETD1A	c.640-1G>A	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30975414G>A	(Likely) pathogenic	1 lab	bc145f103f
13:113773177 F7 C>T	13	113773177	113773177	C	T	F7	c.1256C>T	NM_000131.4	NP_000122.1:p.(Thr419Met)	NC_000013.10:g.113773177C>T	(Likely) pathogenic	1 lab	bc14af157d
5:52978981 NDUFS4 CA>C	5	52978981	52978985	CA	C	NDUFS4	c.462del	NM_002495.3	NP_002486.1:p.(Lys154AsnfsTer35)	NC_000005.9:g.52978985del	(Likely) pathogenic	1 lab	bc15fdbab7
12:64011118 DPY19L2 GA>G	12	64011118	64011119	GA	G	DPY19L2	c.1183del	NM_173812.5	NP_776173.3:p.(Ser395LeufsTer9)	NC_000012.11:g.64011119del	(Likely) pathogenic	1 lab	bc1600c3da
6:7575660 DSP G>A	6	7575660	7575660	G	A	DSP	c.2569G>A	NM_004415.3	NP_004406.2:p.(Gly857Ser)	NC_000006.11:g.7575660G>A	(Likely) benign	1 lab	bc161d1c6a
8:144898875 SCRIB AGAT>A	8	144898875	144898883	AGAT	A	SCRIB				NC_000008.10:g.144898881_144898883del	(Likely) pathogenic	1 lab	bc19a6201a
12:6132797 VWF G>A	12	6132797	6132797	G	A	VWF	c.3379C>T	NM_000552.3	NP_000543.2:p.(Pro1127Ser)	NC_000012.11:g.6132797G>A	VUS	1 lab	bc1ac82648
5:147443589 SPINK5 G>A	5	147443589	147443589	G	A	SPINK5	c.-19G>A	NM_001127698.2	NP_001121170.1:p.?	NC_000005.9:g.147443589G>A	(Likely) benign	1 lab	0e66b7d460
8:61734371 CHD7 A>G	8	61734371	61734371	A	G	CHD7	c.2720A>G	NM_017780.3	NP_060250.2:p.(Lys907Arg)	NC_000008.10:g.61734371A>G	(Likely) pathogenic	1 lab	bc1df41701
7:142458578 PRSS1 C>T	7	142458578	142458578	C	T	PRSS1	c.200+13C>T	NM_002769.4	NP_002760.1:p.?	NC_000007.13:g.142458578C>T	(Likely) benign	1 lab	bc20c9c0b8
X:10180567 CLCN4 G>A	X	10180567	10180567	G	A	CLCN4	c.1450G>A	NM_001830.3	NP_001821.2:p.(Gly484Arg)	NC_000023.10:g.10180567G>A	(Likely) pathogenic	1 lab	bc280e1707
17:4836253 GP1BA C>CA	17	4836253	4836254	C	CA	GP1BA	c.355dup	NM_000173.5	NP_000164.5:p.(Thr119AsnfsTer33)	NC_000017.10:g.4836254dup	(Likely) pathogenic	1 lab	bc28848a57
9:139391319 NOTCH1 C>T	9	139391319	139391319	C	T	NOTCH1	c.6872G>A	NM_017617.5	NP_060087.3:p.(Gly2291Glu)	NC_000009.11:g.139391319C>T	VUS	1 lab	123c8f2b80
14:23886920 MYH7 G>A	14	23886920	23886920	G	A	MYH7	c.4170-25C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886920G>A	(Likely) benign	1 lab	bc2eb1d074
11:108186802 ATM G>T	11	108186802	108186802	G	T	ATM	c.6160G>T	NM_000051.4	NP_000042.3:p.(Ala2054Ser)	NC_000011.9:g.108186802G>T	VUS	1 lab	bc2edeadef
3:53694181 CACNA1D A>G	3	53694181	53694181	A	G	CACNA1D	c.645A>G	NM_000720.3	NP_000711.1:p.(Glu215=)	NC_000003.11:g.53694181A>G	(Likely) benign	1 lab	bc2f4981e0
18:34322822 FHOD3 A>C	18	34322822	34322822	A	C	FHOD3	c.3354+3A>C	NM_025135.5	NP_079411.2:p.?	NC_000018.9:g.34322822A>C	VUS	1 lab	0e67ab6f3c
17:61805717 STRADA C>T	17	61805717	61805717	C	T	STRADA	c.13G>A	NM_001003787.4	NP_001003787.1:p.(Val5Ile)	NC_000017.10:g.61805717C>T	VUS	1 lab	bc3509359c
6:26370762 BTN3A2 G>T	6	26370762	26370762	G	T	BTN3A2	c.646G>T	NM_007047.4	NP_008978.2:p.(Glu216Ter)	NC_000006.11:g.26370762G>T	VUS	1 lab	bc39f409d4
6:73905059 KCNQ5 G>T	6	73905059	73905059	G	T	KCNQ5	c.2778G>T	NM_001160133.2	NP_001153605.1:p.(Arg926Ser)	NC_000006.11:g.73905059G>T	(Likely) benign	1 lab	0e6a529e8b
3:37067377 MLH1 G>T	3	37067377	37067377	G	T	MLH1	c.1288G>T	NM_000249.3	NP_000240.1:p.(Glu430Ter)	NC_000003.11:g.37067377G>T	(Likely) pathogenic	1 lab	bc3ee03cd9
16:57931421 CNGB1 C>T	16	57931421	57931421	C	T	CNGB1	c.3122G>A	NM_001297.4	NP_001288.3:p.(Arg1041Gln)	NC_000016.9:g.57931421C>T	VUS	1 lab	bc3f094520
3:12645760 RAF1 C>T	3	12645760	12645760	C	T	RAF1	c.709G>A	NM_001354689.1	NP_001341618.1:p.(Ala237Thr)	NC_000003.11:g.12645760C>T	VUS	1 lab	bc401c5945
3:52485321 TNNC1 C>T	3	52485321	52485321	C	T	TNNC1	c.456G>A	NM_003280.2	NP_003271.1:p.(Glu152=)	NC_000003.11:g.52485321C>T	(Likely) benign	1 lab	bc425ec367
14:51089914 ATL1 A>G	14	51089914	51089914	A	G	ATL1	c.1067A>G	NM_015915.4	NP_056999.2:p.(Asn356Ser)	NC_000014.8:g.51089914A>G	VUS	1 lab	bc43db2233
2:241663432 KIF1A G>C	2	241663432	241663432	G	C	KIF1A	c.4278C>G	NM_001244008.1	NP_001230937.1:p.(Tyr1426Ter)	NC_000002.11:g.241663432G>C	VUS	1 lab	bc477b48f2
2:179528633 TTN G>A	2	179528633	179528633	G	A	TTN	c.36365-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179528633G>A	(Likely) benign	1 lab	bc489d6f10
3:171426605 PLD1 A>G	3	171426605	171426605	A	G	PLD1	c.1085T>C	NM_002662.4	NP_002653.1:p.(Phe362Ser)	NC_000003.11:g.171426605A>G	VUS	1 lab	bc497c4bc5
6:38890849 DNAH8 G>A	6	38890849	38890849	G	A	DNAH8	c.10678G>A	NM_001206927.1	NP_001193856.1:p.(Ala3560Thr)	NC_000006.11:g.38890849G>A	VUS	1 lab	bc49f3a364
X:70343005 MED12 C>T	X	70343005	70343005	C	T	MED12	c.1546C>T	NM_005120.2	NP_005111.2:p.(Arg516Cys)	NC_000023.10:g.70343005C>T	(Likely) pathogenic	1 lab	bc4c43efeb
3:189586416 TP63 G>A	3	189586416	189586416	G	A	TP63	c.1040G>A	NM_003722.4	NP_003713.3:p.(Cys347Tyr)	NC_000003.11:g.189586416G>A	(Likely) pathogenic	1 lab	bc4d9a2942
2:48808883 STON1 G>C	2	48808883	48808883	G	C	STON1	c.1111G>C	NM_001198595.2	NP_001185524.1:p.(Asp371His)	NC_000002.11:g.48808883G>C	VUS	1 lab	0e6bd46045
11:108121641 ATM C>G	11	108121641	108121641	C	G	ATM	c.1449C>G	NM_000051.3	NP_000042.3:p.(Leu483=)	NC_000011.9:g.108121641C>G	(Likely) benign	1 lab	bc51f084cf
7:146825772 CNTNAP2 C>A	7	146825772	146825772	C	A	CNTNAP2	c.940-13C>A	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.146825772C>A	VUS	1 lab	bd2bc4e356
17:7754963 KDM6B C>T	17	7754963	7754963	C	T	KDM6B	c.4017-3C>T	NM_001080424.2	NP_001073893.1:p.?	NC_000017.10:g.7754963C>T	(Likely) benign	1 lab	0e6bf4a02c
1:152278100 FLG C>T	1	152278100	152278100	C	T	FLG	c.9262G>A	NM_002016.2	NP_002007.1:p.(Gly3088Arg)	NC_000001.10:g.152278100C>T	(Likely) benign	1 lab	bc53f0ea4c
1:103474069 COL11A1 C>A	1	103474069	103474069	C	A	COL11A1	c.1633G>T	NM_001854.3	NP_001845.3:p.(Gly545Trp)	NC_000001.10:g.103474069C>A	VUS	1 lab	bc54177af4
20:57466920 GNAS G>C	20	57466920	57466920	G	C	GNAS	c.139G>C	NM_000516.7	NP_000507.1:p.(Gly47Arg)	NC_000020.10:g.57466920G>C	(Likely) pathogenic	1 lab	bc56e02a00
16:2152129 PKD1 A>G	16	2152129	2152129	A	G	PKD1	c.9330T>C	NM_001009944.2	NP_001009944.2:p.(Pro3110=)	NC_000016.9:g.2152129A>G	(Likely) benign	1 lab	bc570a6403
2:179399280 TTN T>TG	2	179399280	179399282	T	TG	TTN	c.94357dup	NM_133378.4	NP_596869.4:p.(Gln31453ProfsTer5)	NC_000002.11:g.179399282dup	(Likely) pathogenic	1 lab	bc586ed9e6
11:31828396 PAX6 C>T	11	31828396	31828396	C	T	PAX6	c.-52+1G>A	NM_000280.4	NP_000271.1:p.?	NC_000011.9:g.31828396C>T	(Likely) pathogenic	1 lab	bc5de113a6
7:91863783 KRIT1 T>TG	7	91863783	91863784	T	TG	KRIT1	c.968dup	NM_194456.1	NP_919438.1:p.(Pro324ThrfsTer12)	NC_000007.13:g.91863784dup	(Likely) pathogenic	1 lab	34505ef33e
6:10404765 TFAP2A G>A	6	10404765	10404765	G	A	TFAP2A	c.740C>T	NM_003220.2	NP_003211.1:p.(Ser247Leu)	NC_000006.11:g.10404765G>A	(Likely) pathogenic	1 lab	bc5f3e73bc
21:37833713 CLDN14 G>A	21	37833713	37833713	G	A	CLDN14	c.281C>T	NM_144492.3	NP_652763.1:p.(Ala94Val)	NC_000021.8:g.37833713G>A	(Likely) pathogenic	1 lab	bc5fccc63d
2:166243314 SCN2A T>G	2	166243314	166243314	T	G	SCN2A	c.4610T>G	NM_021007.2	NP_066287.2:p.(Ile1537Ser)	NC_000002.11:g.166243314T>G	(Likely) pathogenic	1 lab	bc6146c8ef
X:48374274 PORCN C>G	X	48374274	48374274	C	G	PORCN	c.778-4C>G	NM_001282167.2	NP_001269096.1:p.?	NC_000023.10:g.48374274C>G	(Likely) benign	1 lab	0e6dfad305
16:48395907 SIAH1 T>C	16	48395907	48395907	T	C	SIAH1	c.526A>G	NM_001006610.1	NP_001006611.1:p.(Met176Val)	NC_000016.9:g.48395907T>C	VUS	1 lab	bc66caa1bf
15:72105906 NR2E3 C>T	15	72105906	72105906	C	T	NR2E3	c.925C>T	NM_014249.2	NP_055064.1:p.(Arg309Trp)	NC_000015.9:g.72105906C>T	VUS	1 lab	bc67e06196
2:157436214 GPD2 C>T	2	157436214	157436214	C	T	GPD2	c.1972C>T	NM_001083112.3	NP_001076581.2:p.(Gln658Ter)	NC_000002.11:g.157436214C>T	VUS	1 lab	0e7220bd7e
2:167273315 SCN7A G>A	2	167273315	167273315	G	A	SCN7A	c.3316C>T	NM_002976.4	NP_002967.2:p.(Arg1106Trp)	NC_000002.11:g.167273315G>A	(Likely) benign	1 lab	bc69aa7b35
4:104640438 TACR3 G>T	4	104640438	104640438	G	T	TACR3	c.395C>A	NM_001059.2	NP_001050.1:p.(Ala132Asp)	NC_000004.11:g.104640438G>T	VUS	1 lab	bc6b172e85
3:119205693 POGLUT1 C>T	3	119205693	119205693	C	T	POGLUT1				NC_000003.11:g.119205693C>T	(Likely) pathogenic	1 lab	bc6b8c0c9b
19:38990282 RYR1 C>A	19	38990282	38990282	C	A	RYR1	c.7035C>A	NM_000540.2	NP_000531.2:p.(Ser2345Arg)	NC_000019.9:g.38990282C>A	VUS	1 lab	bc6ca8f38b
17:41201139 BRCA1 G>C	17	41201139	41201139	G	C	BRCA1	c.5405C>G	NM_007294.3	NP_009225.1:p.(Thr1802Arg)	NC_000017.10:g.41201139G>C	(Likely) benign	1 lab	bc6d3c825f
2:167108424 SCN9A T>C	2	167108424	167108424	T	C	SCN9A	c.3319-29A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167108424T>C	(Likely) benign	1 lab	bc6eb35ebf
8:10466655 RP1L1 C>T	8	10466655	10466655	C	T	RP1L1	c.4953G>A	NM_178857.6	NP_849188.4:p.(Ala1651=)	NC_000008.10:g.10466655C>T	(Likely) benign	1 lab	bc739d35c7
16:89167634 ACSF3 C>T	16	89167634	89167634	C	T	ACSF3	c.545C>T	NM_174917.4	NP_777577.2:p.(Pro182Leu)	NC_000016.9:g.89167634C>T	(Likely) benign	1 lab	bc78aa0b53
1:6520112 ESPN CA>C	1	6520112	6520113	CA	C	ESPN	c.2472del	NM_031475.3	NP_113663.2:p.(Glu825ArgfsTer22)	NC_000001.10:g.6520113del	VUS	1 lab	bc79779824
2:179586661 TTN C>A	2	179586661	179586661	C	A	TTN	c.22729G>T	NM_001267550.2	NP_001254479.2:p.(Val7577Leu)	NC_000002.11:g.179586661C>A	VUS	1 lab	bc7a349b15
2:167055203 SCN9A G>A	2	167055203	167055203	G	A	SCN9A	c.5913C>T	NM_002977.3	NP_002968.1:p.(Asp1971=)	NC_000002.11:g.167055203G>A	(Likely) benign	1 lab	124267f301
2:47702297 MSH2 AATT>A	2	47702297	47702302	AATT	A	MSH2	c.1896_1898del	NM_000251.3	NP_000242.1:p.(Ile633del)	NC_000002.11:g.47702300_47702302del	VUS	1 lab	bc7c8ded4c
X:153760401 G6PD A>C	X	153760401	153760401	A	C	G6PD	c.1457+2T>G	NM_001360016.2	NP_001346945.1:p.?	NC_000023.10:g.153760401A>C	(Likely) pathogenic	1 lab	bc7e28074a
18:42618580 SETBP1 G>A	18	42618580	42618580	G	A	SETBP1	c.4131G>A	NM_015559.2	NP_056374.2:p.(Val1377=)	NC_000018.9:g.42618580G>A	(Likely) benign	1 lab	bc8093814a
2:179588766 TTN A>C	2	179588766	179588766	A	C	TTN	c.21220T>G	NM_001267550.2	NP_001254479.2:p.(Ser7074Ala)	NC_000002.11:g.179588766A>C	(Likely) benign	1 lab	bc81ecc552
14:51081124 ATL1 G>A	14	51081124	51081124	G	A	ATL1	c.757G>A	NM_015915.4	NP_056999.2:p.(Val253Ile)	NC_000014.8:g.51081124G>A	(Likely) pathogenic	1 lab	bc82df3f8e
9:138651683 KCNT1 C>G	9	138651683	138651683	C	G	KCNT1	c.1013C>G	NM_020822.2	NP_065873.2:p.(Ala338Gly)	NC_000009.11:g.138651683C>G	(Likely) pathogenic	1 lab	bc843f1a59
12:100774664 SLC17A8 T>C	12	100774664	100774664	T	C	SLC17A8	c.287T>C	NM_139319.2	NP_647480.1:p.(Leu96Pro)	NC_000012.11:g.100774664T>C	(Likely) benign	1 lab	bc85c21758
2:179439256 TTN C>T	2	179439256	179439256	C	T	TTN	c.71603G>A	NM_001267550.2	NP_001254479.2:p.(Arg23868Gln)	NC_000002.11:g.179439256C>T	VUS	1 lab	0e74f4bc65
4:187524525 FAT1 C>T	4	187524525	187524525	C	T	FAT1	c.11155G>A	NM_005245.4	NP_005236.2:p.(Val3719Met)	NC_000004.11:g.187524525C>T	(Likely) benign	1 lab	124607d241
12:111358616 MYL2 C>T	12	111358616	111358616	C	T	MYL2				NC_000012.11:g.111358616C>T	(Likely) benign	1 lab	bc88f53bf5
16:3297235 MEFV T>G	16	3297235	3297235	T	G	MEFV	c.1368A>C	NM_000243.2	NP_000234.1:p.(Glu456Asp)	NC_000016.9:g.3297235T>G	VUS	1 lab	1246440ee7
10:78880789 KCNMA1 C>G	10	78880789	78880789	C	G	KCNMA1	c.826G>C	NM_001161352.1	NP_001154824.1:p.(Ala276Pro)	NC_000010.10:g.78880789C>G	(Likely) pathogenic	1 lab	bc8c281b22
X:31697602 DMD C>T	X	31697602	31697602	C	T	DMD	c.7762G>A	NM_004006.3	NP_003997.2:p.(Ala2588Thr)	NC_000023.10:g.31697602C>T	VUS	1 lab	bc8d574c5c
1:100347247 AGL G>C	1	100347247	100347247	G	C	AGL	c.2308G>C	NM_000028.2	NP_000019.2:p.(Gly770Arg)	NC_000001.10:g.100347247G>C	VUS	1 lab	bc8f812d3b
19:38948769 RYR1 C>T	19	38948769	38948769	C	T	RYR1				NC_000019.9:g.38948769C>T	(Likely) benign	1 lab	bc8feaf303
18:2770096 SMCHD1 T>G	18	2770096	2770096	T	G	SMCHD1	c.4956T>G	NM_015295.3	NP_056110.2:p.(Asn1652Lys)	NC_000018.9:g.2770096T>G	VUS	1 lab	1c033aa84c
2:179577622 TTN C>T	2	179577622	179577622	C	T	TTN	c.27130G>A	NM_001267550.2	NP_001254479.2:p.(Gly9044Arg)	NC_000002.11:g.179577622C>T	VUS	1 lab	0e7b103789
12:45784246 ANO6 C>T	12	45784246	45784246	C	T	ANO6	c.1351C>T	NM_001025356.2	NP_001020527.2:p.(Arg451Trp)	NC_000012.11:g.45784246C>T	VUS	1 lab	bc93884ee5
2:215645966 BARD1 A>G	2	215645966	215645966	A	G	BARD1	c.632T>C	NM_000465.4	NP_000456.2:p.(Leu211Ser)	NC_000002.11:g.215645966A>G	VUS	1 lab	0e7b9df78f
6:79752680 PHIP T>TC	6	79752680	79752681	T	TC	PHIP	c.479dup	NM_017934.7	NP_060404.4:p.(Leu161ThrfsTer2)	NC_000006.11:g.79752681dup	(Likely) pathogenic	1 lab	bc992e818c
9:432140 DOCK8 CTTT>C	9	432140	432154	CTTT	C	DOCK8	c.4627-14_4627-12del	NM_203447.4	NP_982272.2:p.?	NC_000009.11:g.432152_432154del	(Likely) benign	1 lab	1247450d97
22:25627596 CRYBB2 T>C	22	25627596	25627596	T	C	CRYBB2	c.475T>C	NM_000496.3	NP_000487.1:p.(Tyr159His)	NC_000022.10:g.25627596T>C	(Likely) pathogenic	1 lab	bc9b01a4d2
3:81627123 GBE1 C>T	3	81627123	81627123	C	T	GBE1	c.1571G>A	NM_000158.3	NP_000149.3:p.(Arg524Gln)	NC_000003.11:g.81627123C>T	(Likely) pathogenic	1 lab	bc9e2edea3
19:10930662 DNM2 G>A	19	10930662	10930662	G	A	DNM2	c.1678G>A	NM_001005361.2	NP_001005361.1:p.(Glu560Lys)	NC_000019.9:g.10930662G>A	(Likely) pathogenic	1 lab	bc9f33b91d
20:42788505 JPH2 G>T	20	42788505	42788505	G	T	JPH2	c.922C>A	NM_020433.4	NP_065166.2:p.(Arg308Ser)	NC_000020.10:g.42788505G>T	VUS	1 lab	bc9f51320c
17:68172543 KCNJ2 C>T	17	68172543	68172543	C	T	KCNJ2	c.*79C>T	NM_000891.2	NP_000882.1:p.?	NC_000017.10:g.68172543C>T	(Likely) benign	1 lab	bca10615c2
15:65395023 UBAP1L C>G	15	65395023	65395023	C	G	UBAP1L	c.121-1G>C	NM_001163692.2	NP_001157164.1:p.?	NC_000015.9:g.65395023C>G	(Likely) pathogenic	1 lab	bca1a6899f
2:179590366 TTN T>C	2	179590366	179590366	T	C	TTN	c.20565A>G	NM_001267550.2	NP_001254479.2:p.(Arg6855=)	NC_000002.11:g.179590366T>C	VUS	1 lab	bca59730ab
16:3306473 MEFV T>C	16	3306473	3306473	T	C	MEFV	c.115A>G	NM_000243.2	NP_000234.1:p.(Arg39Gly)	NC_000016.9:g.3306473T>C	VUS	1 lab	1289b44880
X:53223539 KDM5C C>T	X	53223539	53223539	C	T	KDM5C	c.3820G>A	NM_004187.3	NP_004178.2:p.(Glu1274Lys)	NC_000023.10:g.53223539C>T	(Likely) pathogenic	1 lab	bca5af8791
16:89349385 ANKRD11 C>G	16	89349385	89349385	C	G	ANKRD11	c.3565G>C	NM_013275.6	NP_037407.4:p.(Gly1189Arg)	NC_000016.9:g.89349385C>G	VUS	1 lab	0e8055130b
1:27874615 AHDC1 G>A	1	27874615	27874615	G	A	AHDC1				NC_000001.10:g.27874615G>A	(Likely) pathogenic	1 lab	bca98abdbb
20:42972112 R3HDML G>A	20	42972112	42972112	G	A	R3HDML	c.476G>A	NM_178491.2	NP_848586.1:p.(Trp159Ter)	NC_000020.10:g.42972112G>A	VUS	1 lab	bcb2b9fa01
17:1578541 PRPF8 C>T	17	1578541	1578541	C	T	PRPF8	c.2965G>A	NM_006445.4	NP_006436.3:p.(Asp989Asn)	NC_000017.10:g.1578541C>T	(Likely) pathogenic	1 lab	bcb4588a35
17:76133406 TMC8 T>G	17	76133406	76133406	T	G	TMC8	c.1218T>G	NM_152468.5	NP_689681.2:p.(Cys406Trp)	NC_000017.10:g.76133406T>G	VUS	1 lab	0e85ae5692
6:10410307 TFAP2A G>A	6	10410307	10410307	G	A	TFAP2A	c.313C>T	NM_001372066.1	NP_001358995.1:p.(Gln105Ter)	NC_000006.11:g.10410307G>A	(Likely) pathogenic	1 lab	bcb6caf159
17:36895854 PCGF2 G>A	17	36895854	36895854	G	A	PCGF2	c.194C>T	NM_007144.2	NP_009075.1:p.(Pro65Leu)	NC_000017.10:g.36895854G>A	(Likely) pathogenic	1 lab	bcb70165a8
2:167133846 SCN9A G>C	2	167133846	167133846	G	C	SCN9A	c.2521C>G	NM_001365536.1	NP_001352465.1:p.(Arg841Gly)	NC_000002.11:g.167133846G>C	VUS	1 lab	bcb73e7f1f
16:23640571 PALB2 G>A	16	23640571	23640571	G	A	PALB2	c.2540C>T	NM_024675.4	NP_078951.2:p.(Ser847Phe)	NC_000016.9:g.23640571G>A	(Likely) benign	1 lab	bcb79f5b13
12:48379358 COL2A1 G>A	12	48379358	48379358	G	A	COL2A1	c.1693C>T	NM_001844.5	NP_001835.3:p.(Arg565Cys)	NC_000012.11:g.48379358G>A	(Likely) pathogenic	1 lab	bcb7b6055f
X:107846192 COL4A5 A>G	X	107846192	107846192	A	G	COL4A5	c.2147-2A>G	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107846192A>G	(Likely) pathogenic	1 lab	bcbf85eb19
2:167168027 SCN9A G>A	2	167168027	167168027	G	A	SCN9A	c.240C>T	NM_002977.3	NP_002968.1:p.(Pro80=)	NC_000002.11:g.167168027G>A	(Likely) benign	1 lab	bcc04cecca
9:132584915 TOR1A T>G	9	132584915	132584915	T	G	TOR1A	c.389A>C	NM_000113.2	NP_000104.1:p.(His130Pro)	NC_000009.11:g.132584915T>G	VUS	1 lab	bcc239e0d1
17:3552197 CTNS ATATTACTATCCTTGAGCTCCC>A	17	3552197	3552218	ATATTACTATCCTTGAGCTCCC	A	CTNS	c.198_218del	NM_004937.3	NP_004928.2:p.(Ile67_Pro73del)	NC_000017.10:g.3552198_3552218del	(Likely) pathogenic	1 lab	bcc4dbbf71
1:12406713 VPS13D A>G	1	12406713	12406713	A	G	VPS13D	c.9069+4A>G	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12406713A>G	(Likely) pathogenic	1 lab	bcc7cd3cbb
13:32913051 BRCA2 C>T	13	32913051	32913051	C	T	BRCA2	c.4559C>T	NM_000059.3	NP_000050.2:p.(Thr1520Ile)	NC_000013.10:g.32913051C>T	(Likely) benign	1 lab	bcc9b489b4
1:206944695 IL10 T>C	1	206944695	206944695	T	C	IL10	c.225+6A>G	NM_000572.3	NP_000563.1:p.?	NC_000001.10:g.206944695T>C	(Likely) benign	1 lab	124758c231
16:15829228 MYH11 C>T	16	15829228	15829228	C	T	MYH11	c.3522G>A	NM_001040113.1	NP_001035202.1:p.(Glu1174=)	NC_000016.9:g.15829228C>T	(Likely) benign	1 lab	bccc87da72
16:68844247 CDH1 A>G	16	68844247	68844247	A	G	CDH1	c.832+3A>G	NM_004360.3	NP_004351.1:p.?	NC_000016.9:g.68844247A>G	(Likely) pathogenic	1 lab	bccd21b733
2:47643471 MSH2 G>A	2	47643471	47643471	G	A	MSH2	c.979G>A	NM_000251.2	NP_000242.1:p.(Ala327Thr)	NC_000002.11:g.47643471G>A	(Likely) benign	1 lab	bccfa29939
5:43700246 NNT C>A	5	43700246	43700246	C	A	NNT	c.2902C>A	NM_012343.3	NP_036475.3:p.(Arg968=)	NC_000005.9:g.43700246C>A	(Likely) benign	1 lab	bcd19dcddc
20:62290697 RTEL1 A>C	20	62290697	62290697	A	C	RTEL1	c.-59A>C	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62290697A>C	(Likely) benign	1 lab	bcd1cb67eb
X:41712461 CASK G>A	X	41712461	41712461	G	A	CASK	c.79C>T	NM_003688.3	NP_003679.2:p.(Arg27Ter)	NC_000023.10:g.41712461G>A	(Likely) pathogenic	1 lab	bcd5e18dca
18:7009320 LAMA1 G>A	18	7009320	7009320	G	A	LAMA1	c.3919C>T	NM_005559.3	NP_005550.2:p.(Arg1307Ter)	NC_000018.9:g.7009320G>A	(Likely) pathogenic	1 lab	bcd7d3a7a9
17:4805389 CHRNE G>A	17	4805389	4805389	G	A	CHRNE	c.345-7C>T	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4805389G>A	(Likely) benign	1 lab	bcd814f40d
12:133220526 POLE T>C	12	133220526	133220526	T	C	POLE	c.4187A>G	NM_006231.2	NP_006222.2:p.(Asn1396Ser)	NC_000012.11:g.133220526T>C	(Likely) benign	1 lab	bcdc70c4e6
14:51062370 ATL1 T>G	14	51062370	51062370	T	G	ATL1				NC_000014.8:g.51062370T>G	(Likely) benign	1 lab	bcdcfedd7c
4:104640307 TACR3 T>C	4	104640307	104640307	T	C	TACR3	c.526A>G	NM_001059.2	NP_001050.1:p.(Met176Val)	NC_000004.11:g.104640307T>C	VUS	1 lab	bcddfe4e2b
14:95583017 DICER1 G>A	14	95583017	95583017	G	A	DICER1				NC_000014.8:g.95583017G>A	(Likely) pathogenic	1 lab	bcdede4431
12:125457077 DHX37 T>A	12	125457077	125457077	T	A	DHX37	c.1049A>T	NM_032656.4	NP_116045.2:p.(Asp350Val)	NC_000012.11:g.125457077T>A	VUS	1 lab	bce451f6aa
2:5833281 SOX11 CCGGCGG>C	2	5833281	5833296	CCGGCGG	C	SOX11	c.438_443del	NM_003108.4	NP_003099.1:p.(Gly147_Gly148del)	NC_000002.11:g.5833291_5833296del	(Likely) benign	1 lab	124b8de0a1
7:47876669 PKD1L1 CT>ATG	7	47876669	47876670	CT	ATG	PKD1L1	c.5792_5793delinsCAT	NM_138295.4	NP_612152.1:p.(Glu1931AlafsTer103)	NC_000007.13:g.47876669_47876670delinsATG	VUS	1 lab	bce57673ae
7:128490451 FLNC C>A	7	128490451	128490451	C	A	FLNC	c.5312C>A	NM_001458.4	NP_001449.3:p.(Pro1771Gln)	NC_000007.13:g.128490451C>A	VUS	1 lab	bce750851d
3:52437276 BAP1 G>A	3	52437276	52437276	G	A	BAP1	c.1768C>T	NM_004656.4	NP_004647.1:p.(Gln590Ter)	NC_000003.11:g.52437276G>A	(Likely) pathogenic	1 lab	bce9500de1
17:75484835 SEPTIN9 A>G	17	75484835	75484835	A	G	SEPTIN9	c.1151A>G	NM_001113491.1	NP_001106963.1:p.(Asn384Ser)	NC_000017.10:g.75484835A>G	VUS	1 lab	bcec5c2b22
5:42718885 GHR C>G	5	42718885	42718885	C	G	GHR	c.1276C>G	NM_000163.4	NP_000154.1:p.(Leu426Val)	NC_000005.9:g.42718885C>G	VUS	1 lab	bced1d8478
1:168262527 TBX19 G>T	1	168262527	168262527	G	T	TBX19	c.603+11G>T	NM_005149.2	NP_005140.1:p.?	NC_000001.10:g.168262527G>T	(Likely) benign	1 lab	bcef55f06f
1:215901619 USH2A T>G	1	215901619	215901619	T	G	USH2A	c.11819A>C	NM_206933.2	NP_996816.2:p.(Tyr3940Ser)	NC_000001.10:g.215901619T>G	VUS	1 lab	bcf23cb8ee
11:67759039 UNC93B1 C>T	11	67759039	67759039	C	T	UNC93B1	c.1772G>A	NM_030930.2	NP_112192.2:p.(Gly591Glu)	NC_000011.9:g.67759039C>T	(Likely) benign	1 lab	1250e19836
14:75516353 MLH3 G>C	14	75516353	75516353	G	C	MLH3	c.6C>G	NM_001040108.2	NP_001035197.1:p.(Ile2Met)	NC_000014.8:g.75516353G>C	VUS	1 lab	bcf706db4e
3:4859895 ITPR1 G>A	3	4859895	4859895	G	A	ITPR1	c.7952G>A	NM_001168272.1	NP_001161744.1:p.(Gly2651Glu)	NC_000003.11:g.4859895G>A	(Likely) pathogenic	1 lab	bcf9115c12
15:63356341 TPM1 T>C	15	63356341	63356341	T	C	TPM1	c.851T>C	NM_001018005.2	NP_001018005.1:p.(Ile284Thr)	NC_000015.9:g.63356341T>C	VUS	1 lab	0e8e50ddb9
14:21878074 CHD8 A>G	14	21878074	21878074	A	G	CHD8				NC_000014.8:g.21878074A>G	(Likely) benign	1 lab	c219034f79
3:37070424 MLH1 G>A	3	37070424	37070424	G	A	MLH1	c.1558+1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37070424G>A	(Likely) pathogenic	1 lab	bcfc9787c1
2:179400416 TTN G>A	2	179400416	179400416	G	A	TTN	c.100926C>T	NM_001267550.2	NP_001254479.2:p.(Tyr33642=)	NC_000002.11:g.179400416G>A	(Likely) benign	1 lab	bcff3f47d3
13:113760223 F7 C>T	13	113760223	113760223	C	T	F7	c.64+4C>T	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113760223C>T	(Likely) benign	1 lab	bcffd6ada0
2:47301015 TTC7A G>T	2	47301015	47301015	G	T	TTC7A	c.2530G>T	NM_020458.4	NP_065191.2:p.(Ala844Ser)	NC_000002.11:g.47301015G>T	VUS	1 lab	0e8fe9165c
2:179435204 TTN C>G	2	179435204	179435204	C	G	TTN	c.75655G>C	NM_001267550.2	NP_001254479.2:p.(Ala25219Pro)	NC_000002.11:g.179435204C>G	VUS	1 lab	bd008112f1
12:6128721 VWF A>C	12	6128721	6128721	A	C	VWF	c.3863T>G	NM_000552.3	NP_000543.2:p.(Leu1288Arg)	NC_000012.11:g.6128721A>C	(Likely) pathogenic	1 lab	bd01ce4923
2:167160817 SCN9A G>C	2	167160817	167160817	G	C	SCN9A	c.619C>G	NM_002977.3	NP_002968.1:p.(Leu207Val)	NC_000002.11:g.167160817G>C	VUS	1 lab	bd02e570f2
12:32996166 PKP2 T>C	12	32996166	32996166	T	C	PKP2	c.1460A>G	NM_004572.3	NP_004563.2:p.(Gln487Arg)	NC_000012.11:g.32996166T>C	(Likely) benign	1 lab	bd039ab165
22:32270326 DEPDC5 G>C	22	32270326	32270326	G	C	DEPDC5				NC_000022.10:g.32270326G>C	VUS	1 lab	bd048b4a24
20:62294094 RTEL1 T>C	20	62294094	62294094	T	C	RTEL1	c.550-88T>C	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62294094T>C	(Likely) benign	1 lab	bd0644804c
9:26925849 PLAA G>C	9	26925849	26925849	G	C	PLAA	c.843C>G	NM_001031689.3	NP_001026859.1:p.(Asp281Glu)	NC_000009.11:g.26925849G>C	VUS	1 lab	bd089085a4
13:32914441 BRCA2 A>G	13	32914441	32914441	A	G	BRCA2	c.5949A>G	NM_000059.3	NP_000050.2:p.(Gly1983=)	NC_000013.10:g.32914441A>G	(Likely) benign	1 lab	bd0caed7c9
17:72832487 SLC38A12 C>T	17	72832487	72832487	C	T	SLC38A12	c.1152C>T	NM_017728.4	NP_060198.3:p.(Phe384=)	NC_000017.10:g.72832487C>T	(Likely) benign	1 lab	12515a0d18
6:74191952 MTO1 C>T	6	74191952	74191952	C	T	MTO1	c.1450C>T	NM_012123.4	NP_036255.2:p.(Arg484Trp)	NC_000006.11:g.74191952C>T	(Likely) pathogenic	1 lab	bd11ea4148
14:64516446 SYNE2 C>G	14	64516446	64516446	C	G	SYNE2	c.7495C>G	NM_182914.2	NP_878918.2:p.(Gln2499Glu)	NC_000014.8:g.64516446C>G	(Likely) benign	1 lab	1254a6170a
15:43910517 STRC A>G	15	43910517	43910517	A	G	STRC	c.102T>C	NM_153700.2	NP_714544.1:p.(Pro34=)	NC_000015.9:g.43910517A>G	(Likely) benign	1 lab	bd241cc8e9
2:179433530 TTN T>C	2	179433530	179433530	T	C	TTN	c.77329A>G	NM_001267550.2	NP_001254479.2:p.(Lys25777Glu)	NC_000002.11:g.179433530T>C	VUS	1 lab	bd2913abfc
10:69881399 MYPN C>A	10	69881399	69881399	C	A	MYPN	c.204C>A	NM_032578.3	NP_115967.2:p.(Ser68Arg)	NC_000010.10:g.69881399C>A	VUS	1 lab	bd299b6f7c
8:126071452 WASHC5 T>C	8	126071452	126071452	T	C	WASHC5	c.1764+12A>G	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126071452T>C	(Likely) benign	1 lab	bd2d0a028b
14:102471163 DYNC1H1 T>C	14	102471163	102471163	T	C	DYNC1H1	c.5114T>C	NM_001376.4	NP_001367.2:p.(Val1705Ala)	NC_000014.8:g.102471163T>C	(Likely) benign	1 lab	bd2f14497c
16:23641456 PALB2 C>G	16	23641456	23641456	C	G	PALB2	c.2019G>C	NM_024675.3	NP_078951.2:p.(Glu673Asp)	NC_000016.9:g.23641456C>G	(Likely) benign	1 lab	bd30f79f95
19:15353818 BRD4 T>TG	19	15353818	15353825	T	TG	BRD4	c.3061dup	NM_058243.3	NP_490597.1:p.(His1021ProfsTer72)	NC_000019.9:g.15353825dup	(Likely) pathogenic	1 lab	0e91a2ce1e
2:167084210 SCN9A A>G	2	167084210	167084210	A	G	SCN9A	c.4197T>C	NM_002977.3	NP_002968.1:p.(Ile1399=)	NC_000002.11:g.167084210A>G	(Likely) benign	1 lab	bd3439edc5
2:32379455 SPAST C>T	2	32379455	32379455	C	T	SPAST	c.1741C>T	NM_014946.3	NP_055761.2:p.(Arg581Ter)	NC_000002.11:g.32379455C>T	(Likely) pathogenic	1 lab	bd35e61b54
X:49850995 CLCN5 A>G	X	49850995	49850995	A	G	CLCN5	c.815A>G	NM_000084.2	NP_000075.1:p.(Tyr272Cys)	NC_000023.10:g.49850995A>G	VUS	1 lab	bd36d5c54d
7:73480062 ELN G>A	7	73480062	73480062	G	A	ELN	c.2032G>A	NM_000501.4	NP_000492.2:p.(Gly678Ser)	NC_000007.13:g.73480062G>A	VUS	1 lab	bd395d716b
3:38889194 SCN11A G>C	3	38889194	38889194	G	C	SCN11A	c.4367C>G	NM_014139.2	NP_054858.2:p.(Pro1456Arg)	NC_000003.11:g.38889194G>C	(Likely) benign	1 lab	bd3fb484eb
2:179592888 TTN C>T	2	179592888	179592888	C	T	TTN	c.19663G>A	NM_001267550.2	NP_001254479.2:p.(Val6555Met)	NC_000002.11:g.179592888C>T	VUS	1 lab	0e935f3a7f
1:181705468 CACNA1E A>T	1	181705468	181705468	A	T	CACNA1E	c.3320A>T	NM_001205293.3	NP_001192222.1:p.(Asp1107Val)	NC_000001.10:g.181705468A>T	VUS	1 lab	0e93837c6f
2:227922104 COL4A4 T>C	2	227922104	227922104	T	C	COL4A4	c.2545+51A>G	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227922104T>C	(Likely) benign	1 lab	bd420d5fc0
16:70287703 AARS1 C>T	16	70287703	70287703	C	T	AARS1	c.2521G>A	NM_001605.2	NP_001596.2:p.(Val841Met)	NC_000016.9:g.70287703C>T	VUS	1 lab	bd46c9955c
12:48369745 COL2A1 C>G	12	48369745	48369745	C	G	COL2A1	c.3597+1G>C	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48369745C>G	(Likely) pathogenic	1 lab	bd472733ce
9:135163625 SETX G>A	9	135163625	135163625	G	A	SETX	c.6322C>T	NM_015046.5	NP_055861.3:p.(Gln2108Ter)	NC_000009.11:g.135163625G>A	(Likely) pathogenic	1 lab	bd4fbdfe8b
9:137710738 COL5A1 C>T	9	137710738	137710738	C	T	COL5A1	c.4383C>T	NM_000093.4	NP_000084.3:p.(Pro1461=)	NC_000009.11:g.137710738C>T	(Likely) benign	1 lab	1257b9ec60
1:94487410 ABCA4 C>T	1	94487410	94487410	C	T	ABCA4				NC_000001.10:g.94487410C>T	VUS	1 lab	bd52fa7d26
2:179441321 TTN T>G	2	179441321	179441321	T	G	TTN	c.69650A>C	NM_001267550.2	NP_001254479.2:p.(Glu23217Ala)	NC_000002.11:g.179441321T>G	VUS	1 lab	bd5627c410
15:73615037 HCN4 C>T	15	73615037	73615037	C	T	HCN4	c.3397G>A	NM_005477.3	NP_005468.1:p.(Gly1133Arg)	NC_000015.9:g.73615037C>T	VUS	1 lab	bd580e0440
X:108906439 ACSL4 C>T	X	108906439	108906439	C	T	ACSL4	c.1582+1G>A	NM_001318510.2	NP_001305439.1:p.?	NC_000023.10:g.108906439C>T	(Likely) pathogenic	1 lab	bd5c21bd5f
14:55510436 MISSING G>A	14	55510436	55510436	G	A	MISSING				NC_000014.8:g.55510436G>A	VUS	1 lab	bd5debd019
17:10426473 MYH2 C>G	17	10426473	10426473	C	G	MYH2	c.5607G>C	NM_017534.5	NP_060004.3:p.(Arg1869Ser)	NC_000017.10:g.10426473C>G	VUS	1 lab	bd5f919c00
12:48389692 COL2A1 C>T	12	48389692	48389692	C	T	COL2A1	c.620G>A	NM_001844.4	NP_001835.3:p.(Gly207Glu)	NC_000012.11:g.48389692C>T	(Likely) pathogenic	1 lab	bd60b6050a
2:238275521 COL6A3 C>A	2	238275521	238275521	C	A	COL6A3	c.5309G>T	NM_004369.3	NP_004360.2:p.(Gly1770Val)	NC_000002.11:g.238275521C>A	(Likely) pathogenic	1 lab	bd6178971f
3:52486251 TNNC1 C>T	3	52486251	52486251	C	T	TNNC1	c.73G>A	NM_003280.3	NP_003271.1:p.(Asp25Asn)	NC_000003.11:g.52486251C>T	VUS	1 lab	0e99d88915
1:103440435 COL11A1 G>C	1	103440435	103440435	G	C	COL11A1	c.2759C>G	NM_001854.3	NP_001845.3:p.(Pro920Arg)	NC_000001.10:g.103440435G>C	VUS	1 lab	bd61e93003
12:8995914 A2ML1 C>T	12	8995914	8995914	C	T	A2ML1	c.1433C>T	NM_144670.4	NP_653271.2:p.(Pro478Leu)	NC_000012.11:g.8995914C>T	(Likely) benign	1 lab	bd62bedde2
2:241659303 KIF1A C>G	2	241659303	241659303	C	G	KIF1A	c.4606G>C	NM_004321.8	NP_004312.2:p.(Glu1536Gln)	NC_000002.11:g.241659303C>G	VUS	1 lab	0e9b1c8110
3:183885787 DVL3 C>T	3	183885787	183885787	C	T	DVL3	c.1432C>T	NM_004423.4	NP_004414.3:p.(Arg478Cys)	NC_000003.11:g.183885787C>T	VUS	1 lab	bd683edb32
17:7578226 TP53 T>A	17	7578226	7578226	T	A	TP53	c.623A>T	NM_000546.5	NP_000537.3:p.(Asp208Val)	NC_000017.10:g.7578226T>A	(Likely) pathogenic	1 lab	bd6ad785e7
2:167273292 SCN7A G>A	2	167273292	167273292	G	A	SCN7A	c.3339C>T	NM_002976.4	NP_002967.2:p.(Asn1113=)	NC_000002.11:g.167273292G>A	(Likely) benign	1 lab	bd6bba6225
3:121980583 CASR A>G	3	121980583	121980583	A	G	CASR	c.701A>G	NM_000388.3	NP_000379.2:p.(Asp234Gly)	NC_000003.11:g.121980583A>G	VUS	1 lab	bd7436eba1
6:33648336 ITPR3 G>A	6	33648336	33648336	G	A	ITPR3	c.4355G>A	NM_002224.4	NP_002215.2:p.(Cys1452Tyr)	NC_000006.11:g.33648336G>A	VUS	1 lab	bd759d67df
21:47414120 COL6A1 C>T	21	47414120	47414120	C	T	COL6A1	c.1375C>T	NM_001848.2	NP_001839.2:p.(Pro459Ser)	NC_000021.8:g.47414120C>T	VUS	1 lab	bd77310e96
8:1905341 ARHGEF10 G>A	8	1905341	1905341	G	A	ARHGEF10	c.3947G>A	NM_014629.3	NP_055444.2:p.(Arg1316His)	NC_000008.10:g.1905341G>A	VUS	1 lab	bd77a4c9f8
9:123837046 C5 G>A	9	123837046	123837046	G	A	C5	c.69C>T	NM_001317163.2	NP_001304092.1:p.(Phe23=)	NC_000009.11:g.123837046G>A	(Likely) benign	1 lab	125cb8f0b0
11:1098745 MISSING T>C	11	1098745	1098745	T	C	MISSING				NC_000011.9:g.1098745T>C	VUS	1 lab	bd7b81a28e
1:53662774 CPT2 C>T	1	53662774	53662774	C	T	CPT2	c.152+7C>T	NM_000098.2	NP_000089.1:p.?	NC_000001.10:g.53662774C>T	(Likely) benign	1 lab	bd806c917e
10:14976495 DCLRE1C C>A	10	14976495	14976495	C	A	DCLRE1C	c.562G>T	NM_001033855.2	NP_001029027.1:p.(Glu188Ter)	NC_000010.10:g.14976495C>A	(Likely) pathogenic	1 lab	bd808c91c3
1:229567517 ACTA1 C>A	1	229567517	229567517	C	A	ACTA1	c.941G>T	NM_001100.3	NP_001091.1:p.(Arg314Leu)	NC_000001.10:g.229567517C>A	VUS	1 lab	bd82369c96
6:76591540 MYO6 G>A	6	76591540	76591540	G	A	MYO6	c.2416+5G>A	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76591540G>A	(Likely) pathogenic	1 lab	bd82d61345
8:11565334 GATA4 AC>A	8	11565334	11565337	AC	A	GATA4	c.-457-28del	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11565337del	(Likely) benign	1 lab	bd8461bd76
11:118047119 SCN2B G>A	11	118047119	118047119	G	A	SCN2B	c.28C>T	NM_004588.5	NP_004579.1:p.(Pro10Ser)	NC_000011.9:g.118047119G>A	(Likely) benign	1 lab	bd854b5cbe
17:37822317 TCAP T>G	17	37822317	37822317	T	G	TCAP	c.459T>G	NM_003673.3	NP_003664.1:p.(Arg153=)	NC_000017.10:g.37822317T>G	(Likely) benign	1 lab	bd85bc0e41
10:89725058 PTEN C>T	10	89725058	89725058	C	T	PTEN	c.1041C>T	NM_000314.8	NP_000305.3:p.(Phe347=)	NC_000010.10:g.89725058C>T	(Likely) benign	1 lab	bd85db91f0
4:144447465 SMARCA5 T>G	4	144447465	144447465	T	G	SMARCA5	c.653T>G	NM_003601.4	NP_003592.3:p.(Leu218Arg)	NC_000004.11:g.144447465T>G	VUS	1 lab	bd86854f1e
15:65369597 KBTBD13 C>G	15	65369597	65369597	C	G	KBTBD13	c.444C>G	NM_001101362.2	NP_001094832.1:p.(Tyr148Ter)	NC_000015.9:g.65369597C>G	(Likely) pathogenic	1 lab	bd879ddb10
4:122754464 BBS7 TCTGGAA>T	4	122754464	122754472	TCTGGAA	T	BBS7	c.1592_1597del	NM_176824.2	NP_789794.1:p.(Val531_Pro532del)	NC_000004.11:g.122754467_122754472del	(Likely) pathogenic	1 lab	bd883c57d7
1:3328115 PRDM16 A>G	1	3328115	3328115	A	G	PRDM16	c.1354A>G	NM_022114.3	NP_071397.3:p.(Thr452Ala)	NC_000001.10:g.3328115A>G	(Likely) benign	1 lab	bd886733f2
22:18072368 SLC25A18 G>A	22	18072368	18072368	G	A	SLC25A18	c.743G>A	NM_031481.1	NP_113669.1:p.(Arg248Gln)	NC_000022.10:g.18072368G>A	VUS	1 lab	bd8973bc75
12:49444880 KMT2D AGGGGACAGGGGTGGCTTCTCAAGCTCAGGGGACAGATGCGATTCCTCAGGCCGG>A	12	49444880	49444943	AGGGGACAGGGGTGGCTTCTCAAGCTCAGGGGACAGATGCGATTCCTCAGGCCGG	A	KMT2D	c.2532_2585del	NM_003482.4	NP_003473.3:p.(Glu848_Glu865del)	NC_000012.11:g.49444890_49444943del	VUS	1 lab	0ea0fef106
17:17129480 FLCN C>T	17	17129480	17129480	C	T	FLCN	c.396+10G>A	NM_144997.6	NP_659434.2:p.?	NC_000017.10:g.17129480C>T	(Likely) benign	1 lab	bd8fb776a2
14:23854272 MYH6 T>C	14	23854272	23854272	T	C	MYH6	c.5164-22A>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23854272T>C	(Likely) benign	1 lab	bd95e21b66
1:94506969 ABCA4 G>A	1	94506969	94506969	G	A	ABCA4	c.3329-11C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94506969G>A	(Likely) benign	1 lab	bd9795cbf0
6:129824345 LAMA2 C>T	6	129824345	129824345	C	T	LAMA2	c.8467C>T	NM_000426.3	NP_000417.2:p.(Pro2823Ser)	NC_000006.11:g.129824345C>T	VUS	1 lab	bd9815d252
X:71684466 HDAC8 C>T	X	71684466	71684466	C	T	HDAC8	c.853G>A	NM_018486.2	NP_060956.1:p.(Gly285Ser)	NC_000023.10:g.71684466C>T	VUS	1 lab	bd99a93a68
5:95732260 PCSK1 C>T	5	95732260	95732260	C	T	PCSK1	c.1722+780G>A	NM_000439.5	NP_000430.3:p.?	NC_000005.9:g.95732260C>T	VUS	1 lab	0ea640c7b1
11:1464815 BRSK2 C>T	11	1464815	1464815	C	T	BRSK2	c.730C>T	NM_001256627.1	NP_001243556.1:p.(Gln244Ter)	NC_000011.9:g.1464815C>T	VUS	1 lab	bd9c652ad6
5:172660354 NKX2-5 C>A	5	172660354	172660354	C	A	NKX2-5	c.335-142G>T	NM_004387.4	NP_004378.1:p.?	NC_000005.9:g.172660354C>A	(Likely) benign	1 lab	bd9d0a76cc
7:116397656 MET A>G	7	116397656	116397656	A	G	MET	c.1966-36A>G	NM_000245.3	NP_000236.2:p.?	NC_000007.13:g.116397656A>G	(Likely) benign	1 lab	bda25f66e3
12:49434325 KMT2D G>A	12	49434325	49434325	G	A	KMT2D	c.7228C>T	NM_003482.3	NP_003473.3:p.(Arg2410Ter)	NC_000012.11:g.49434325G>A	(Likely) pathogenic	1 lab	bda51c0415
22:29091153 CHEK2 TTGTATTTTCCAC>T	22	29091153	29091167	TTGTATTTTCCAC	T	CHEK2	c.1325_1336del	NM_007194.3	NP_009125.1:p.(Ser442_Tyr445del)	NC_000022.10:g.29091156_29091167del	VUS	1 lab	bda52ea440
X:63412530 AMER1 G>A	X	63412530	63412530	G	A	AMER1	c.637C>T	NM_152424.4	NP_689637.3:p.(Gln213Ter)	NC_000023.10:g.63412530G>A	(Likely) pathogenic	1 lab	bda7594e20
9:131386699 SPTAN1 G>A	9	131386699	131386699	G	A	SPTAN1	c.5925G>A	NM_001130438.3	NP_001123910.1:p.(Ala1975=)	NC_000009.11:g.131386699G>A	(Likely) benign	1 lab	0ea899d781
8:141570581 AGO2 TGAA>T	8	141570581	141570588	TGAA	T	AGO2	c.544_546del	NM_012154.5	NP_036286.2:p.(Phe182del)	NC_000008.10:g.141570586_141570588del	(Likely) pathogenic	1 lab	bdb13b8aed
17:67298999 ABCA5 CAT>C	17	67298999	67299001	CAT	C	ABCA5	c.977_978del	NM_018672.5	NP_061142.2:p.(His326ArgfsTer5)	NC_000017.10:g.67299000_67299001del	(Likely) pathogenic	1 lab	0eabb26fb8
10:69970556 MYPN G>A	10	69970556	69970556	G	A	MYPN	c.*344G>A	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69970556G>A	(Likely) benign	1 lab	bdb2ed5b14
3:45963334 FYCO1 T>C	3	45963334	45963334	T	C	FYCO1	c.4362-2A>G	NM_024513.3	NP_078789.2:p.?	NC_000003.11:g.45963334T>C	(Likely) pathogenic	1 lab	bdb3c54cbd
17:8013768 ALOXE3 CGTACTGCTGGCGGCCGT>C	17	8013768	8013785	CGTACTGCTGGCGGCCGT	C	ALOXE3	c.1019_1035del	NM_021628.3	NP_067641.2:p.(Asn340SerfsTer30)	NC_000017.10:g.8013769_8013785del	(Likely) pathogenic	1 lab	bdb6ed25b3
12:52163074 SCN8A C>T	12	52163074	52163074	C	T	SCN8A	c.3327C>T	NM_014191.4	NP_055006.1:p.(Asn1109=)	NC_000012.11:g.52163074C>T	(Likely) benign	1 lab	bdb74436e7
6:157519938 ARID1B A>G	6	157519938	157519938	A	G	ARID1B	c.4263-7A>G	NM_001371656.1	NP_001358585.1:p.?	NC_000006.11:g.157519938A>G	(Likely) benign	1 lab	0eac49948a
5:5318280 ADAMTS16 A>T	5	5318280	5318280	A	T	ADAMTS16	c.3445A>T	NM_139056.4	NP_620687.2:p.(Arg1149Trp)	NC_000005.9:g.5318280A>T	VUS	1 lab	0eafed9cd5
19:17951085 JAK3 C>T	19	17951085	17951085	C	T	JAK3	c.1208G>A	NM_000215.3	NP_000206.2:p.(Arg403His)	NC_000019.9:g.17951085C>T	(Likely) pathogenic	1 lab	bdbe5c2f92
1:35251033 GJB3 C>T	1	35251033	35251033	C	T	GJB3	c.670C>T	NM_024009.2	NP_076872.1:p.(Arg224Ter)	NC_000001.10:g.35251033C>T	VUS	1 lab	bdbefb547d
1:237934126 RYR2 C>T	1	237934126	237934126	C	T	RYR2				NC_000001.10:g.237934126C>T	(Likely) benign	1 lab	bdbf2ae4ca
22:51021147 CHKB C>T	22	51021147	51021147	C	T	CHKB	c.64G>A	NM_005198.4	NP_005189.2:p.(Gly22Ser)	NC_000022.10:g.51021147C>T	(Likely) benign	1 lab	bdbfcf8322
11:108202251 ATM G>A	11	108202251	108202251	G	A	ATM	c.7596G>A	NM_000051.3	NP_000042.3:p.(Met2532Ile)	NC_000011.9:g.108202251G>A	(Likely) benign	1 lab	bdc0f52f70
2:69093413 BMP10 G>A	2	69093413	69093413	G	A	BMP10	c.625C>T	NM_014482.1	NP_055297.1:p.(Arg209Cys)	NC_000002.11:g.69093413G>A	(Likely) benign	1 lab	12676fb7e7
8:100520158 VPS13B T>C	8	100520158	100520158	T	C	VPS13B	c.4299+19T>C	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100520158T>C	(Likely) benign	1 lab	1267bdb8a3
1:94473846 ABCA4 G>A	1	94473846	94473846	G	A	ABCA4	c.5843C>T	NM_000350.2	NP_000341.2:p.(Pro1948Leu)	NC_000001.10:g.94473846G>A	(Likely) benign	1 lab	bdc4177c99
2:128183783 PROC C>T	2	128183783	128183783	C	T	PROC				NC_000002.11:g.128183783C>T	(Likely) pathogenic	1 lab	bdc70c624a
22:18656033 USP18 C>T	22	18656033	18656033	C	T	USP18	c.1008C>T	NM_017414.4	NP_059110.2:p.(Asp336=)	NC_000022.10:g.18656033C>T	(Likely) benign	1 lab	1267c32515
11:47362339 MYBPC3 G>A	11	47362339	47362339	G	A	MYBPC3	c.1927+215C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47362339G>A	(Likely) benign	1 lab	bdca5ee2eb
10:75867008 VCL G>A	10	75867008	75867008	G	A	VCL	c.2455G>A	NM_014000.2	NP_054706.1:p.(Asp819Asn)	NC_000010.10:g.75867008G>A	VUS	1 lab	bdcbb2e99e
11:118343917 KMT2A AC>A	11	118343917	118343918	AC	A	KMT2A	c.2044del	NM_001197104.2	NP_001184033.1:p.(Leu682SerfsTer16)	NC_000011.9:g.118343918del	(Likely) pathogenic	1 lab	bdcc7f5b2c
6:43006702 CUL7 G>A	6	43006702	43006702	G	A	CUL7	c.4318C>T	NM_014780.5	NP_055595.2:p.(Arg1440Ter)	NC_000006.11:g.43006702G>A	(Likely) pathogenic	1 lab	bdd2e272aa
22:38121152 TRIOBP C>A	22	38121152	38121152	C	A	TRIOBP				NC_000022.10:g.38121152C>A	(Likely) benign	1 lab	bdd4c242ad
9:126132374 CRB2 G>A	9	126132374	126132374	G	A	CRB2	c.1055-13G>A	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126132374G>A	(Likely) benign	1 lab	1268226718
17:33433488 RAD51D GGA>G	17	33433488	33433493	GGA	G	RAD51D	c.491_492del	NM_002878.3	NP_002869.3:p.(Leu164ProfsTer10)	NC_000017.10:g.33433492_33433493del	(Likely) pathogenic	1 lab	bdd5d8e753
3:69998212 MITF C>A	3	69998212	69998212	C	A	MITF	c.452C>A	NM_000248.4	NP_000239.1:p.(Ser151Ter)	NC_000003.11:g.69998212C>A	(Likely) pathogenic	1 lab	bdd5f74e50
1:176852023 ASTN1 G>A	1	176852023	176852023	G	A	ASTN1	c.3334C>T	NM_004319.2	NP_004310.1:p.(Arg1112Ter)	NC_000001.10:g.176852023G>A	VUS	1 lab	bdd8ec4f35
6:6248555 F13A1 C>T	6	6248555	6248555	C	T	F13A1	c.788G>A	NM_000129.3	NP_000120.2:p.(Gly263Glu)	NC_000006.11:g.6248555C>T	(Likely) pathogenic	1 lab	bddbe102da
12:57490865 STAT6 G>A	12	57490865	57490865	G	A	STAT6	c.2211C>T	NM_001178078.2	NP_001171549.1:p.(Asp737=)	NC_000012.11:g.57490865G>A	(Likely) benign	1 lab	12682933dc
5:112174577 APC C>T	5	112174577	112174577	C	T	APC	c.3286C>T	NM_000038.5	NP_000029.2:p.(Gln1096Ter)	NC_000005.9:g.112174577C>T	(Likely) pathogenic	1 lab	bddcd3d8cd
10:85970817 CDHR1 C>T	10	85970817	85970817	C	T	CDHR1	c.1381C>T	NM_033100.3	NP_149091.1:p.(Gln461Ter)	NC_000010.10:g.85970817C>T	(Likely) pathogenic	1 lab	bde08952f5
22:24159040 SMARCB1 G>A	22	24159040	24159040	G	A	SMARCB1	c.712G>A	NM_003073.5	NP_003064.2:p.(Ala238Thr)	NC_000022.10:g.24159040G>A	(Likely) benign	1 lab	0eb1cfebb0
5:135392377 TGFBI C>G	5	135392377	135392377	C	G	TGFBI	c.1571C>G	NM_000358.3	NP_000349.1:p.(Ser524Cys)	NC_000005.9:g.135392377C>G	VUS	1 lab	bde7700e8f
1:24123233 GALE C>T	1	24123233	24123233	C	T	GALE	c.749G>A	NM_001008216.2	NP_001008217.1:p.(Gly250Asp)	NC_000001.10:g.24123233C>T	VUS	1 lab	bdeb3a3610
19:50780037 MYH14 C>T	19	50780037	50780037	C	T	MYH14	c.3704C>T	NM_001145809.1	NP_001139281.1:p.(Thr1235Met)	NC_000019.9:g.50780037C>T	(Likely) benign	1 lab	bdedbdd11e
3:37042488 MLH1 A>G	3	37042488	37042488	A	G	MLH1	c.250A>G	NM_000249.4	NP_000240.1:p.(Lys84Glu)	NC_000003.11:g.37042488A>G	(Likely) pathogenic	1 lab	bdef1abe3d
3:38607899 SCN5A C>T	3	38607899	38607899	C	T	SCN5A	c.3837+1G>A	NM_000335.5	NP_000326.2:p.?	NC_000003.11:g.38607899C>T	(Likely) pathogenic	1 lab	bdf12f34dd
17:56787224 RAD51C G>A	17	56787224	56787224	G	A	RAD51C	c.710G>A	NM_058216.3	NP_478123.1:p.(Arg237Gln)	NC_000017.10:g.56787224G>A	(Likely) benign	1 lab	bdf1fbe283
5:147477551 SPINK5 C>T	5	147477551	147477551	C	T	SPINK5	c.1004C>T	NM_001127698.2	NP_001121170.1:p.(Ala335Val)	NC_000005.9:g.147477551C>T	(Likely) benign	1 lab	0eb3383aaa
7:82997261 SEMA3E C>T	7	82997261	82997261	C	T	SEMA3E	c.1969G>A	NM_012431.3	NP_036563.1:p.(Val657Ile)	NC_000007.13:g.82997261C>T	VUS	1 lab	0eb43b8f38
8:87616311 CNGB3 T>A	8	87616311	87616311	T	A	CNGB3				NC_000008.10:g.87616311T>A	(Likely) benign	1 lab	bdf88b0f9a
X:152827614 ATP2B3 G>A	X	152827614	152827614	G	A	ATP2B3	c.3073G>A	NM_021949.3	NP_068768.2:p.(Gly1025Arg)	NC_000023.10:g.152827614G>A	VUS	1 lab	bdf9e23f15
8:133142170 KCNQ3 T>C	8	133142170	133142170	T	C	KCNQ3	c.1958A>G	NM_004519.4	NP_004510.1:p.(Gln653Arg)	NC_000008.10:g.133142170T>C	(Likely) benign	1 lab	34511f36bc
10:70191683 DNA2 G>A	10	70191683	70191683	G	A	DNA2	c.1919C>T	NM_001080449.3	NP_001073918.2:p.(Ser640Leu)	NC_000010.10:g.70191683G>A	VUS	1 lab	be0056982a
8:61735127 CHD7 A>G	8	61735127	61735127	A	G	CHD7	c.3023A>G	NM_017780.3	NP_060250.2:p.(Tyr1008Cys)	NC_000008.10:g.61735127A>G	VUS	1 lab	be00b11116
X:25025450 ARX G>A	X	25025450	25025450	G	A	ARX	c.1226C>T	NM_139058.3	NP_620689.1:p.(Pro409Leu)	NC_000023.10:g.25025450G>A	VUS	1 lab	0eb6323d53
4:996181 IDUA CCG>C	4	996181	996188	CCG	C	IDUA				NC_000004.11:g.996187_996188del	(Likely) pathogenic	1 lab	c33f3e0a14
2:168100489 XIRP2 C>T	2	168100489	168100489	C	T	XIRP2	c.2587C>T	NM_152381.6	NP_689594.4:p.(Gln863Ter)	NC_000002.11:g.168100489C>T	(Likely) pathogenic	1 lab	126cf83d6c
14:23882966 MYH7 A>C	14	23882966	23882966	A	C	MYH7	c.5790+2T>G	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23882966A>C	(Likely) pathogenic	1 lab	be027af034
1:202702777 KDM5B A>G	1	202702777	202702777	A	G	KDM5B	c.3661T>C	NM_006618.3	NP_006609.3:p.(Cys1221Arg)	NC_000001.10:g.202702777A>G	VUS	1 lab	be02fcf0ca
1:116268177 CASQ2 GGAAAA>G	1	116268177	116268182	GGAAAA	G	CASQ2	c.738-8_738-4del	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116268178_116268182del	(Likely) benign	1 lab	be0304f0c0
2:179427824 TTN C>T	2	179427824	179427824	C	T	TTN	c.83035G>A	NM_001267550.2	NP_001254479.2:p.(Ala27679Thr)	NC_000002.11:g.179427824C>T	(Likely) benign	1 lab	be0366f28d
21:46314976 ITGB2 C>T	21	46314976	46314976	C	T	ITGB2	c.994-1G>A	NM_000211.5	NP_000202.3:p.?	NC_000021.8:g.46314976C>T	(Likely) pathogenic	1 lab	be0374e3e6
5:178413642 GRM6 C>T	5	178413642	178413642	C	T	GRM6	c.1613G>A	NM_000843.3	NP_000834.2:p.(Trp538Ter)	NC_000005.9:g.178413642C>T	(Likely) pathogenic	1 lab	be03886644
4:187209668 F11 C>T	4	187209668	187209668	C	T	F11	c.1778C>T	NM_000128.3	NP_000119.1:p.(Thr593Met)	NC_000004.11:g.187209668C>T	(Likely) pathogenic	1 lab	be0d1f53c5
X:107814653 COL4A5 G>A	X	107814653	107814653	G	A	COL4A5	c.395G>A	NM_033380.3	NP_203699.1:p.(Gly132Glu)	NC_000023.10:g.107814653G>A	(Likely) pathogenic	1 lab	be1094e885
9:134382902 POMT1 G>GA	9	134382902	134382903	G	GA	POMT1	c.427+1_427+2insA	NM_001077365.2	NP_001070833.1:p.?	NC_000009.11:g.134382902_134382903insA	(Likely) pathogenic	1 lab	be13334c52
17:41258534 BRCA1 GT>G	17	41258534	41258537	GT	G	BRCA1	c.150del	NM_007294.4	NP_009225.1:p.(Lys50AsnfsTer19)	NC_000017.10:g.41258537del	(Likely) pathogenic	1 lab	be1433cd35
14:23881920 MYH6 G>T	14	23881920	23881920	G	T	MYH6				NC_000014.8:g.23881920G>T	(Likely) benign	1 lab	be145a8214
X:110439139 PAK3 C>A	X	110439139	110439139	C	A	PAK3	c.1180C>A	NM_002578.5	NP_002569.1:p.(Leu394Ile)	NC_000023.10:g.110439139C>A	VUS	1 lab	be16dec463
2:48025831 MSH6 G>T	2	48025831	48025831	G	T	MSH6	c.709G>T	NM_000179.2	NP_000170.1:p.(Gly237Ter)	NC_000002.11:g.48025831G>T	(Likely) pathogenic	1 lab	be18e10273
2:167142856 SCN9A G>T	2	167142856	167142856	G	T	SCN9A	c.1592C>A	NM_002977.3	NP_002968.1:p.(Thr531Asn)	NC_000002.11:g.167142856G>T	VUS	1 lab	be1bc0c358
1:41456851 CTPS1 G>A	1	41456851	41456851	G	A	CTPS1	c.570G>A	NM_001905.4	NP_001896.2:p.(Gly190=)	NC_000001.10:g.41456851G>A	(Likely) benign	1 lab	126ff0cb77
16:23205645 SCNN1G T>C	16	23205645	23205645	T	C	SCNN1G	c.913+50T>C	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23205645T>C	(Likely) benign	1 lab	1274399289
2:227896886 COL4A4 C>T	2	227896886	227896886	C	T	COL4A4	c.3684G>A	NM_000092.4	NP_000083.3:p.(Lys1228=)	NC_000002.11:g.227896886C>T	(Likely) benign	1 lab	be1d950320
2:179587138 TTN A>G	2	179587138	179587138	A	G	TTN	c.22376T>C	NM_001267550.2	NP_001254479.2:p.(Leu7459Ser)	NC_000002.11:g.179587138A>G	VUS	1 lab	be1dc277dc
1:43394646 SLC2A1 A>G	1	43394646	43394646	A	G	SLC2A1	c.1031T>C	NM_006516.2	NP_006507.2:p.(Met344Thr)	NC_000001.10:g.43394646A>G	VUS	1 lab	be1ddc4d76
10:16994372 CUBN G>A	10	16994372	16994372	G	A	CUBN	c.4872C>T	NM_001081.3	NP_001072.2:p.(Ile1624=)	NC_000010.10:g.16994372G>A	(Likely) benign	1 lab	12744adebc
10:8111541 GATA3 C>T	10	8111541	8111541	C	T	GATA3	c.1030C>T	NM_001002295.2	NP_001002295.1:p.(Leu344Phe)	NC_000010.10:g.8111541C>T	(Likely) pathogenic	1 lab	be205607f4
3:37053587 MLH1 G>T	3	37053587	37053587	G	T	MLH1	c.674G>T	NM_000249.4	NP_000240.1:p.(Ser225Ile)	NC_000003.11:g.37053587G>T	VUS	1 lab	be20ac71bf
15:63356365 TPM1 G>A	15	63356365	63356365	G	A	TPM1	c.*20G>A	NM_000366.5	NP_000357.3:p.?	NC_000015.9:g.63356365G>A	VUS	1 lab	be213235ec
15:89402196 ACAN CT>C	15	89402196	89402197	CT	C	ACAN	c.6381del	NM_001369268.1	NP_001356197.1:p.(Asp2128IlefsTer2)	NC_000015.9:g.89402197del	(Likely) pathogenic	1 lab	be214029b4
3:37061898 MLH1 C>T	3	37061898	37061898	C	T	MLH1	c.982C>T	NM_000249.4	NP_000240.1:p.(Gln328Ter)	NC_000003.11:g.37061898C>T	(Likely) pathogenic	1 lab	be267c2170
17:63533137 AXIN2 G>A	17	63533137	63533137	G	A	AXIN2	c.1757C>T	NM_004655.4	NP_004646.3:p.(Thr586Met)	NC_000017.10:g.63533137G>A	VUS	1 lab	0ecf5c980e
5:139494201 PURA C>G	5	139494201	139494201	C	G	PURA	c.435C>G	NM_005859.4	NP_005850.1:p.(Ser145Arg)	NC_000005.9:g.139494201C>G	(Likely) benign	1 lab	be2ad8e502
7:24745886 GSDME AAGCTGCACCCCACC>A	7	24745886	24745907	AAGCTGCACCCCACC	A	GSDME	c.1086_1099del	NM_004403.2	NP_004394.1:p.(Val363ThrfsTer32)	NC_000007.13:g.24745894_24745907del	(Likely) benign	1 lab	be2ccf4cf4
12:53879165 MAP3K12 T>A	12	53879165	53879165	T	A	MAP3K12	c.916A>T	NM_001193511.1	NP_001180440.1:p.(Thr306Ser)	NC_000012.11:g.53879165T>A	VUS	1 lab	be2e42212d
3:18456633 SATB1 ACT>A	3	18456633	18456637	ACT	A	SATB1				NC_000003.11:g.18456636_18456637del	VUS	1 lab	be2f40c971
17:78187647 SGSH G>C	17	78187647	78187647	G	C	SGSH	c.701C>G	NM_000199.5	NP_000190.1:p.(Ala234Gly)	NC_000017.10:g.78187647G>C	(Likely) benign	1 lab	be305ef12d
11:108163354 ATM G>A	11	108163354	108163354	G	A	ATM	c.4445G>A	NM_000051.3	NP_000042.3:p.(Cys1482Tyr)	NC_000011.9:g.108163354G>A	(Likely) benign	1 lab	be31fe2b50
7:117180352 CFTR G>A	7	117180352	117180352	G	A	CFTR	c.1068G>A	NM_000492.3	NP_000483.3:p.(Trp356Ter)	NC_000007.13:g.117180352G>A	(Likely) pathogenic	1 lab	be34578a86
2:179561868 TTN G>A	2	179561868	179561868	G	A	TTN	c.30782C>T	NM_001267550.2	NP_001254479.2:p.(Thr10261Ile)	NC_000002.11:g.179561868G>A	(Likely) benign	1 lab	be3525b73f
4:155665996 LRAT CG>C	4	155665996	155665997	CG	C	LRAT	c.519del	NM_004744.3	NP_004735.2:p.(Ile174SerfsTer12)	NC_000004.11:g.155665997del	(Likely) pathogenic	1 lab	be36f34946
15:48707809 FBN1 A>C	15	48707809	48707809	A	C	FBN1	c.7975T>G	NM_000138.5	NP_000129.3:p.(Cys2659Gly)	NC_000015.9:g.48707809A>C	(Likely) pathogenic	1 lab	be3d665ab5
4:6302889 WFS1 G>A	4	6302889	6302889	G	A	WFS1	c.1367G>A	NM_006005.3	NP_005996.2:p.(Arg456His)	NC_000004.11:g.6302889G>A	(Likely) benign	1 lab	be3e616ca3
X:46713512 RP2 C>A	X	46713512	46713512	C	A	RP2	c.704C>A	NM_006915.2	NP_008846.2:p.(Ser235Ter)	NC_000023.10:g.46713512C>A	(Likely) pathogenic	1 lab	be42715472
2:179449679 TTN AG>A	2	179449679	179449685	AG	A	TTN	c.64688del	NM_001267550.2	NP_001254479.2:p.(Pro21563LeufsTer10)	NC_000002.11:g.179449685del	(Likely) pathogenic	1 lab	be42db6a2b
9:130982276 DNM1 C>T	9	130982276	130982276	C	T	DNM1	c.599C>T	NM_004408.3	NP_004399.2:p.(Thr200Ile)	NC_000009.11:g.130982276C>T	VUS	1 lab	be433f8079
X:7171331 STS G>A	X	7171331	7171331	G	A	STS	c.106G>A	NM_000351.4	NP_000342.2:p.(Asp36Asn)	NC_000023.10:g.7171331G>A	(Likely) pathogenic	1 lab	be46d98fd5
1:40559831 PPT1 G>A	1	40559831	40559831	G	A	PPT1	c.125-1652C>T	NM_000310.3	NP_000301.1:p.?	NC_000001.10:g.40559831G>A	(Likely) benign	1 lab	127778d7d1
5:224633 SDHA A>G	5	224633	224633	A	G	SDHA	c.309A>G	NM_004168.2	NP_004159.2:p.(Ala103=)	NC_000005.9:g.224633A>G	(Likely) benign	1 lab	be4e08e68d
16:56530925 BBS2 G>A	16	56530925	56530925	G	A	BBS2	c.1864C>T	NM_031885.3	NP_114091.3:p.(Arg622Ter)	NC_000016.9:g.56530925G>A	(Likely) pathogenic	1 lab	be548cc0bc
7:21745115 DNAH11 C>T	7	21745115	21745115	C	T	DNAH11				NC_000007.13:g.21745115C>T	VUS	1 lab	be5938e80b
20:48098464 KCNB1 G>A	20	48098464	48098464	G	A	KCNB1	c.554C>T	NM_004975.4	NP_004966.1:p.(Ser185Phe)	NC_000020.10:g.48098464G>A	VUS	1 lab	be59dbe821
4:155511897 FGA T>C	4	155511897	155511897	T	C	FGA	c.-58A>G	NM_000508.3	NP_000499.1:p.?	NC_000004.11:g.155511897T>C	(Likely) benign	1 lab	be61586b40
6:129465226 LAMA2 G>A	6	129465226	129465226	G	A	LAMA2	c.819+1G>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129465226G>A	(Likely) pathogenic	1 lab	be63abbc83
1:201333454 TNNT2 C>G	1	201333454	201333454	C	G	TNNT2	c.431G>C	NM_001276347.2	NP_001263276.1:p.(Arg144Pro)	NC_000001.10:g.201333454C>G	(Likely) pathogenic	1 lab	127793a4f4
1:216062137 USH2A C>T	1	216062137	216062137	C	T	USH2A	c.7854G>A	NM_206933.4	NP_996816.3:p.(Trp2618Ter)	NC_000001.10:g.216062137C>T	(Likely) pathogenic	1 lab	be6494c03c
17:41277361 BRCA1 C>T	17	41277361	41277361	C	T	BRCA1	c.-93G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277361C>T	(Likely) benign	1 lab	be6715b0d1
13:32907386 BRCA2 A>G	13	32907386	32907386	A	G	BRCA2	c.1771A>G	NM_000059.3	NP_000050.2:p.(Ile591Val)	NC_000013.10:g.32907386A>G	(Likely) benign	1 lab	be68ac80a7
3:100976502 IMPG2 C>T	3	100976502	100976502	C	T	IMPG2	c.1024G>A	NM_016247.4	NP_057331.2:p.(Asp342Asn)	NC_000003.11:g.100976502C>T	VUS	1 lab	be6aa0f968
11:58877154 FAM111B A>C	11	58877154	58877154	A	C	FAM111B	c.56A>C	NM_198947.3	NP_945185.1:p.(Gln19Pro)	NC_000011.9:g.58877154A>C	VUS	1 lab	be6b7f90d2
2:48027195 MSH6 CA>C	2	48027195	48027201	CA	C	MSH6	c.2079del	NM_000179.2	NP_000170.1:p.(Lys693AsnfsTer43)	NC_000002.11:g.48027201del	(Likely) pathogenic	1 lab	be6dfb35d5
17:42340018 SLC4A1 A>G	17	42340018	42340018	A	G	SLC4A1	c.92T>C	NM_000342.3	NP_000333.1:p.(Met31Thr)	NC_000017.10:g.42340018A>G	VUS	1 lab	be6f4a102b
7:22197478 MISSING T>A	7	22197478	22197478	T	A	MISSING				NC_000007.13:g.22197478T>A	VUS	1 lab	be71102767
3:32207323 GPD1L C>A	3	32207323	32207323	C	A	GPD1L	c.977C>A	NM_015141.4	NP_055956.1:p.(Ala326Glu)	NC_000003.11:g.32207323C>A	VUS	1 lab	be717a66d0
6:32006951 CYP21A2 C>T	6	32006951	32006951	C	T	CYP21A2	c.373C>T	NM_000500.7	NP_000491.4:p.(Arg125Cys)	NC_000006.11:g.32006951C>T	(Likely) pathogenic	1 lab	be71b0caab
2:16082313 MYCN A>AC	2	16082313	16082320	A	AC	MYCN	c.134dup	NM_001293228.2	NP_001280157.1:p.(Glu47GlyfsTer8)	NC_000002.11:g.16082320dup	(Likely) pathogenic	1 lab	0ed1dbe4d0
22:51160864 MISSING C>T	22	51160864	51160864	C	T	MISSING				NC_000022.10:g.51160864C>T	VUS	1 lab	be7787ebeb
17:59763336 BRIP1 T>A	17	59763336	59763336	T	A	BRIP1	c.2766A>T	NM_032043.2	NP_114432.2:p.(Leu922Phe)	NC_000017.10:g.59763336T>A	(Likely) benign	1 lab	be7efc4087
19:47259888 FKRP G>T	19	47259888	47259888	G	T	FKRP	c.1181G>T	NM_024301.5	NP_077277.1:p.(Trp394Leu)	NC_000019.9:g.47259888G>T	VUS	1 lab	be7fa2a1eb
X:38145447 RPGR CTCCTCT>C	X	38145447	38145456	CTCCTCT	C	RPGR	c.2799_2804del	NM_001034853.2	NP_001030025.1:p.(Glu935_Glu936del)	NC_000023.10:g.38145451_38145456del	(Likely) benign	1 lab	be81ecf3f0
16:67654631 CTCF A>C	16	67654631	67654631	A	C	CTCF	c.1118A>C	NM_006565.3	NP_006556.1:p.(His373Pro)	NC_000016.9:g.67654631A>C	VUS	1 lab	be81f97e09
6:7580348 DSP C>T	6	7580348	7580348	C	T	DSP	c.3925C>T	NM_004415.4	NP_004406.2:p.(His1309Tyr)	NC_000006.11:g.7580348C>T	(Likely) benign	1 lab	be83e7eb67
3:38743414 SCN10A T>C	3	38743414	38743414	T	C	SCN10A	c.4573A>G	NM_006514.3	NP_006505.3:p.(Met1525Val)	NC_000003.11:g.38743414T>C	(Likely) benign	1 lab	be8491529f
2:228177825 COL4A3 C>G	2	228177825	228177825	C	G	COL4A3	c.*1239C>G	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228177825C>G	(Likely) benign	1 lab	be855f2bee
17:54671739 NOG C>T	17	54671739	54671739	C	T	NOG	c.155C>T	NM_005450.6	NP_005441.1:p.(Pro52Leu)	NC_000017.10:g.54671739C>T	VUS	1 lab	1d36f273e9
12:110224527 TRPV4 C>T	12	110224527	110224527	C	T	TRPV4	c.2324G>A	NM_021625.4	NP_067638.3:p.(Arg775Lys)	NC_000012.11:g.110224527C>T	(Likely) pathogenic	1 lab	be857bee74
16:56904104 SLC12A3 T>C	16	56904104	56904104	T	C	SLC12A3	c.698T>C	NM_000339.2	NP_000330.2:p.(Met233Thr)	NC_000016.9:g.56904104T>C	VUS	1 lab	be876d013b
6:129419363 LAMA2 C>G	6	129419363	129419363	C	G	LAMA2	c.442C>G	NM_000426.4	NP_000417.3:p.(Arg148Gly)	NC_000006.11:g.129419363C>G	VUS	1 lab	be87e7c20d
4:174450344 HAND2 TGGCGGCGGCGGCGGCAGCTGC>T	4	174450344	174450381	TGGCGGCGGCGGCGGCAGCTGC	T	HAND2	c.76_96del	NM_021973.2	NP_068808.1:p.(Ala26_Ala32del)	NC_000004.11:g.174450361_174450381del	VUS	1 lab	be899323b8
X:22112143 PHEX C>CT	X	22112143	22112147	C	CT	PHEX	c.779dup	NM_000444.6	NP_000435.3:p.(Leu260PhefsTer4)	NC_000023.10:g.22112147dup	(Likely) pathogenic	1 lab	0ee099e7d0
6:108243119 SEC63 G>GGGGAAAAAA	6	108243119	108243120	G	GGGGAAAAAA	SEC63	c.340-7_340-6insTTTTTTCCC	NM_007214.4	NP_009145.1:p.?	NC_000006.11:g.108243119_108243120insGGGAAAAAA	(Likely) benign	1 lab	be8bca9b03
X:84526830 ZNF711 T>C	X	84526830	84526830	T	C	ZNF711	c.2282T>C	NM_021998.5	NP_068838.3:p.(Met761Thr)	NC_000023.10:g.84526830T>C	(Likely) benign	1 lab	0ee1cf88ce
11:125831775 CDON CA>C	11	125831775	125831776	CA	C	CDON	c.3474del	NM_001378964.1	NP_001365893.1:p.(Val1159TyrfsTer3)	NC_000011.9:g.125831776del	(Likely) pathogenic	1 lab	be8c2b21b8
2:179396208 TTN T>A	2	179396208	179396208	T	A	TTN	c.105134A>T	NM_001267550.2	NP_001254479.2:p.(Asp35045Val)	NC_000002.11:g.179396208T>A	VUS	1 lab	be8f71bbc1
3:38592213 SCN5A G>T	3	38592213	38592213	G	T	SCN5A	c.5647C>A	NM_000335.5	NP_000326.2:p.(Pro1883Thr)	NC_000003.11:g.38592213G>T	VUS	1 lab	be9192aa4a
11:71155238 DHCR7 G>A	11	71155238	71155238	G	A	DHCR7	c.122C>T	NM_001360.2	NP_001351.2:p.(Ala41Val)	NC_000011.9:g.71155238G>A	(Likely) benign	1 lab	127b6a20af
22:46780521 CELSR1 T>A	22	46780521	46780521	T	A	CELSR1	c.6802A>T	NM_014246.1	NP_055061.1:p.(Thr2268Ser)	NC_000022.10:g.46780521T>A	(Likely) benign	1 lab	be94e7821b
8:68346191 CPA6 A>G	8	68346191	68346191	A	G	CPA6	c.1041+82T>C	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68346191A>G	(Likely) benign	1 lab	127bd18711
17:76498689 DNAH17 T>C	17	76498689	76498689	T	C	DNAH17	c.5174A>G	NM_173628.4	NP_775899.3:p.(Asp1725Gly)	NC_000017.10:g.76498689T>C	VUS	1 lab	0ee2c8bfaa
7:107329641 SLC26A4 AC>A	7	107329641	107329643	AC	A	SLC26A4	c.1147del	NM_000441.1	NP_000432.1:p.(Gln383ArgfsTer49)	NC_000007.13:g.107329643del	(Likely) pathogenic	1 lab	be977d84fe
19:39061301 RYR1 T>G	19	39061301	39061301	T	G	RYR1	c.13714T>G	NM_000540.2	NP_000531.2:p.(Phe4572Val)	NC_000019.9:g.39061301T>G	VUS	1 lab	be98cb47da
X:53283903 IQSEC2 C>T	X	53283903	53283903	C	T	IQSEC2	c.1210G>A	NM_001111125.3	NP_001104595.1:p.(Ala404Thr)	NC_000023.10:g.53283903C>T	(Likely) benign	1 lab	127f32eb07
7:91630830 AKAP9 T>G	7	91630830	91630830	T	G	AKAP9	c.1599T>G	NM_005751.4	NP_005742.4:p.(Leu533=)	NC_000007.13:g.91630830T>G	(Likely) benign	1 lab	be9aec8846
1:201057049 CACNA1S A>G	1	201057049	201057049	A	G	CACNA1S	c.909T>C	NM_000069.2	NP_000060.2:p.(Asp303=)	NC_000001.10:g.201057049A>G	(Likely) benign	1 lab	bea001351f
5:218444 SDHA C>G	5	218444	218444	C	G	SDHA	c.-27C>G	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.218444C>G	(Likely) benign	1 lab	bea31136df
11:31812410 PAX6 T>G	11	31812410	31812410	T	G	PAX6	c.1033-2A>C	NM_000280.4	NP_000271.1:p.?	NC_000011.9:g.31812410T>G	(Likely) pathogenic	1 lab	bea3c63241
5:112128164 APC C>T	5	112128164	112128164	C	T	APC	c.667C>T	NM_000038.6	NP_000029.2:p.(Gln223Ter)	NC_000005.9:g.112128164C>T	(Likely) pathogenic	1 lab	beb78a9903
X:44937714 KDM6A A>C	X	44937714	44937714	A	C	KDM6A	c.3058A>C	NM_001291415.2	NP_001278344.1:p.(Thr1020Pro)	NC_000023.10:g.44937714A>C	(Likely) pathogenic	1 lab	beb7faa859
14:23884279 MYH7 G>A	14	23884279	23884279	G	A	MYH7	c.5484C>T	NM_000257.3	NP_000248.2:p.(Ala1828=)	NC_000014.8:g.23884279G>A	(Likely) benign	1 lab	beb81497a0
20:43280215 ADA C>G	20	43280215	43280215	C	G	ADA	c.33+1G>C	NM_000022.4	NP_000013.2:p.?	NC_000020.10:g.43280215C>G	(Likely) pathogenic	1 lab	beb96acfde
19:7126648 INSR G>A	19	7126648	7126648	G	A	INSR	c.2960C>T	NM_000208.4	NP_000199.2:p.(Pro987Leu)	NC_000019.9:g.7126648G>A	VUS	1 lab	0ee913044c
3:52437630 BAP1 TA>T	3	52437630	52437631	TA	T	BAP1	c.1530del	NM_004656.4	NP_004647.1:p.(Ile511SerfsTer60)	NC_000003.11:g.52437631del	(Likely) pathogenic	1 lab	0ee995ee7f
7:92765275 SAMD9L G>A	7	92765275	92765275	G	A	SAMD9L	c.10C>T	NM_152703.5	NP_689916.2:p.(Gln4Ter)	NC_000007.13:g.92765275G>A	VUS	1 lab	bebce73710
16:56919275 SLC12A3 C>G	16	56919275	56919275	C	G	SLC12A3	c.1924C>G	NM_000339.2	NP_000330.2:p.(Arg642Gly)	NC_000016.9:g.56919275C>G	(Likely) pathogenic	1 lab	bebe4b40c7
2:122288548 RNU4ATAC G>C	2	122288548	122288548	G	C	RNU4ATAC	n.93G>C	NR_023343.1		NC_000002.11:g.122288548G>C	VUS	1 lab	0eea8b4fc9
X:153596073 FLNA C>T	X	153596073	153596073	C	T	FLNA	c.656G>A	NM_001110556.2	NP_001104026.1:p.(Ser219Asn)	NC_000023.10:g.153596073C>T	VUS	1 lab	bec231f7ea
14:91780344 CCDC88C G>A	14	91780344	91780344	G	A	CCDC88C	c.1816C>T	NM_001080414.4	NP_001073883.2:p.(Leu606Phe)	NC_000014.8:g.91780344G>A	VUS	1 lab	0eeaef756e
13:32900754 BRCA2 A>G	13	32900754	32900754	A	G	BRCA2	c.631+4A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900754A>G	(Likely) pathogenic	1 lab	bec727c617
13:86370010 SLITRK6 C>G	13	86370010	86370010	C	G	SLITRK6				NC_000013.10:g.86370010C>G	VUS	1 lab	bec94642ba
X:107821210 COL4A5 G>T	X	107821210	107821210	G	T	COL4A5	c.638G>T	NM_033380.2	NP_203699.1:p.(Gly213Val)	NC_000023.10:g.107821210G>T	(Likely) pathogenic	1 lab	bec9f2e0f4
5:149779363 TCOF1 C>T	5	149779363	149779363	C	T	TCOF1	c.*23-10C>T	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149779363C>T	(Likely) benign	1 lab	becc13140f
2:47703694 MSH2 A>C	2	47703694	47703694	A	C	MSH2	c.2194A>C	NM_000251.2	NP_000242.1:p.(Thr732Pro)	NC_000002.11:g.47703694A>C	(Likely) pathogenic	1 lab	becd1795c4
X:152959452 SLC6A8 C>A	X	152959452	152959452	C	A	SLC6A8	c.1234C>A	NM_005629.3	NP_005620.1:p.(Leu412Met)	NC_000023.10:g.152959452C>A	VUS	1 lab	becdc388c0
12:94703713 CEP83 G>A	12	94703713	94703713	G	A	CEP83	c.1982C>T	NM_016122.3	NP_057206.2:p.(Pro661Leu)	NC_000012.11:g.94703713G>A	(Likely) benign	1 lab	128279de9c
11:94219114 MRE11 T>C	11	94219114	94219114	T	C	MRE11	c.290A>G	NM_005591.4	NP_005582.1:p.(Gln97Arg)	NC_000011.9:g.94219114T>C	VUS	1 lab	bed12ba1ae
14:68191273 RDH12 T>C	14	68191273	68191273	T	C	RDH12				NC_000014.8:g.68191273T>C	(Likely) pathogenic	1 lab	bed536408e
1:244218383 ZBTB18 G>C	1	244218383	244218383	G	C	ZBTB18	c.1307G>C	NM_205768.3	NP_991331.1:p.(Arg436Pro)	NC_000001.10:g.244218383G>C	(Likely) pathogenic	1 lab	bed65fcd83
1:223116240 DISP1 G>A	1	223116240	223116240	G	A	DISP1	c.75G>A	NM_032890.5	NP_116279.2:p.(Pro25=)	NC_000001.10:g.223116240G>A	(Likely) benign	1 lab	0eef712f5e
19:15636324 CYP4F22 C>T	19	15636324	15636324	C	T	CYP4F22				NC_000019.9:g.15636324C>T	(Likely) benign	1 lab	bedadb70eb
2:216190691 ATIC A>C	2	216190691	216190691	A	C	ATIC	c.380-19A>C	NM_004044.7	NP_004035.2:p.?	NC_000002.11:g.216190691A>C	(Likely) benign	1 lab	0ef0e365fb
10:82034933 MAT1A C>T	10	82034933	82034933	C	T	MAT1A	c.791G>A	NM_000429.2	NP_000420.1:p.(Arg264His)	NC_000010.10:g.82034933C>T	VUS	1 lab	bedcaf727e
19:45211204 CEACAM16 G>T	19	45211204	45211204	G	T	CEACAM16	c.1012G>T	NM_001039213.3	NP_001034302.2:p.(Val338Leu)	NC_000019.9:g.45211204G>T	VUS	1 lab	bee01e7511
3:43408113 ANO10 G>A	3	43408113	43408113	G	A	ANO10	c.*285C>T	NM_018075.3	NP_060545.3:p.?	NC_000003.11:g.43408113G>A	(Likely) benign	1 lab	bee0555826
18:33725931 ELP2 G>A	18	33725931	33725931	G	A	ELP2	c.1108G>A	NM_001242875.3	NP_001229804.1:p.(Val370Met)	NC_000018.9:g.33725931G>A	(Likely) benign	1 lab	0ef117eac6
2:225339003 CUL3 G>A	2	225339003	225339003	G	A	CUL3	c.2284C>T	NM_001257198.1	NP_001244127.1:p.(Arg762Ter)	NC_000002.11:g.225339003G>A	VUS	1 lab	bee926b729
8:42323378 SLC20A2 T>C	8	42323378	42323378	T	C	SLC20A2	c.347A>G	NM_006749.4	NP_006740.1:p.(His116Arg)	NC_000008.10:g.42323378T>C	VUS	1 lab	beea6d703a
1:120277981 PHGDH G>A	1	120277981	120277981	G	A	PHGDH	c.707G>A	NM_006623.4	NP_006614.2:p.(Arg236His)	NC_000001.10:g.120277981G>A	(Likely) pathogenic	1 lab	beeaf08e77
2:189943304 COL5A2 G>A	2	189943304	189943304	G	A	COL5A2	c.1006-9C>T	NM_000393.5	NP_000384.2:p.?	NC_000002.11:g.189943304G>A	(Likely) benign	1 lab	128609c947
10:70227964 DNA2 C>T	10	70227964	70227964	C	T	DNA2	c.357G>A	NM_001080449.2	NP_001073918.2:p.(Leu119=)	NC_000010.10:g.70227964C>T	(Likely) benign	1 lab	bef67f286b
6:129824419 LAMA2 G>A	6	129824419	129824419	G	A	LAMA2	c.8541G>A	NM_000426.3	NP_000417.2:p.(Trp2847Ter)	NC_000006.11:g.129824419G>A	(Likely) pathogenic	1 lab	bef85b60f4
1:6515295 ESPN A>G	1	6515295	6515295	A	G	ESPN	c.2326-1949A>G	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6515295A>G	(Likely) benign	1 lab	bef88b585c
12:6220105 VWF G>A	12	6220105	6220105	G	A	VWF	c.250C>T	NM_000552.3	NP_000543.2:p.(Leu84Phe)	NC_000012.11:g.6220105G>A	VUS	1 lab	befb76e938
3:168818746 MECOM A>G	3	168818746	168818746	A	G	MECOM	c.2776T>C	NM_004991.4	NP_004982.2:p.(Cys926Arg)	NC_000003.11:g.168818746A>G	(Likely) pathogenic	1 lab	befde953be
11:2594224 KCNQ1 G>A	11	2594224	2594224	G	A	KCNQ1	c.921+8G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2594224G>A	(Likely) benign	1 lab	128704fa4e
20:33586935 MYH7B A>G	20	33586935	33586935	A	G	MYH7B	c.4393A>G	NM_020884.4	NP_065935.3:p.(Lys1465Glu)	NC_000020.10:g.33586935A>G	VUS	1 lab	befe447403
2:179579208 TTN T>A	2	179579208	179579208	T	A	TTN	c.26293A>T	NM_001267550.2	NP_001254479.2:p.(Ile8765Phe)	NC_000002.11:g.179579208T>A	VUS	1 lab	befe6789d3
3:48629105 COL7A1 C>G	3	48629105	48629105	C	G	COL7A1	c.1507+1G>C	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48629105C>G	(Likely) pathogenic	1 lab	bf0329645e
11:121058575 TECTA G>A	11	121058575	121058575	G	A	TECTA				NC_000011.9:g.121058575G>A	VUS	1 lab	bf061ac240
1:151378510 POGZ G>A	1	151378510	151378510	G	A	POGZ	c.3001C>T	NM_015100.4	NP_055915.2:p.(Arg1001Ter)	NC_000001.10:g.151378510G>A	(Likely) pathogenic	1 lab	bf06b3781e
2:162274725 TBR1 T>TA	2	162274725	162274726	T	TA	TBR1	c.862dup	NM_006593.4	NP_006584.1:p.(Met288AsnfsTer33)	NC_000002.11:g.162274726dup	(Likely) pathogenic	1 lab	0ef18bc0f5
8:61757623 CHD7 G>A	8	61757623	61757623	G	A	CHD7	c.5050+1G>A	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61757623G>A	(Likely) pathogenic	1 lab	bf0933de0c
15:93489446 CHD2 G>A	15	93489446	93489446	G	A	CHD2	c.1377G>A	NM_001271.4	NP_001262.3:p.(Lys459=)	NC_000015.9:g.93489446G>A	VUS	1 lab	0ef1d85257
22:29099548 CHEK2 T>C	22	29099548	29099548	T	C	CHEK2	c.853A>G	NM_007194.3	NP_009125.1:p.(Ile285Val)	NC_000022.10:g.29099548T>C	VUS	1 lab	bf0ba8129b
1:3313048 PRDM16 A>T	1	3313048	3313048	A	T	PRDM16	c.574-7A>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3313048A>T	(Likely) benign	1 lab	bf16f5aac4
1:226111809 PYCR2 A>G	1	226111809	226111809	A	G	PYCR2	c.2T>C	NM_013328.3	NP_037460.2:p.(Met1?)	NC_000001.10:g.226111809A>G	(Likely) pathogenic	1 lab	bf178a579f
12:15733669 PTPRO G>A	12	15733669	15733669	G	A	PTPRO	c.3036G>A	NM_030667.2	NP_109592.1:p.(Gly1012=)	NC_000012.11:g.15733669G>A	(Likely) benign	1 lab	bf19cd7a1c
11:108121811 ATM A>G	11	108121811	108121811	A	G	ATM	c.1607+12A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108121811A>G	(Likely) benign	1 lab	bf20b808e7
5:137206548 MYOT C>CG	5	137206548	137206549	C	CG	MYOT	c.208_209insG	NM_006790.2	NP_006781.1:p.(Pro70ArgfsTer21)	NC_000005.9:g.137206548_137206549insG	(Likely) pathogenic	1 lab	bf23826e33
9:130587562 ENG C>T	9	130587562	130587562	C	T	ENG	c.764G>A	NM_000118.3	NP_000109.1:p.(Gly255Asp)	NC_000009.11:g.130587562C>T	(Likely) pathogenic	1 lab	128bc7997c
3:4558241 ITPR1 G>A	3	4558241	4558241	G	A	ITPR1	c.66G>A	NM_001168272.1	NP_001161744.1:p.(Ser22=)	NC_000003.11:g.4558241G>A	(Likely) benign	1 lab	128c0ed08f
12:25378598 KRAS C>T	12	25378598	25378598	C	T	KRAS	c.400G>A	NM_033360.2	NP_203524.1:p.(Ala134Thr)	NC_000012.11:g.25378598C>T	VUS	1 lab	bf28fe096a
X:53253983 KDM5C T>C	X	53253983	53253983	T	C	KDM5C	c.89A>G	NM_004187.3	NP_004178.2:p.(Tyr30Cys)	NC_000023.10:g.53253983T>C	(Likely) pathogenic	1 lab	bf2afcef88
20:49510365 ADNP G>A	20	49510365	49510365	G	A	ADNP				NC_000020.10:g.49510365G>A	VUS	1 lab	c39fa69ac4
15:72104209 NR2E3 G>A	15	72104209	72104209	G	A	NR2E3	c.349G>A	NM_014249.2	NP_055064.1:p.(Ala117Thr)	NC_000015.9:g.72104209G>A	VUS	1 lab	bf2b96261c
2:179631172 TTN G>A	2	179631172	179631172	G	A	TTN	c.9639C>T	NM_001267550.2	NP_001254479.2:p.(Ser3213=)	NC_000002.11:g.179631172G>A	(Likely) benign	1 lab	bf2e6cae25
3:38888682 SCN11A A>G	3	38888682	38888682	A	G	SCN11A	c.4879T>C	NM_014139.3	NP_054858.2:p.(Tyr1627His)	NC_000003.11:g.38888682A>G	VUS	1 lab	bf361ade54
1:237811891 RYR2 G>A	1	237811891	237811891	G	A	RYR2	c.7490G>A	NM_001035.2	NP_001026.2:p.(Arg2497Gln)	NC_000001.10:g.237811891G>A	VUS	1 lab	bf369d290f
16:56938289 SLC12A3 C>T	16	56938289	56938289	C	T	SLC12A3	c.2884-18C>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56938289C>T	(Likely) benign	1 lab	bf3702d523
1:43395308 SLC2A1 C>T	1	43395308	43395308	C	T	SLC2A1	c.823G>A	NM_006516.2	NP_006507.2:p.(Ala275Thr)	NC_000001.10:g.43395308C>T	(Likely) pathogenic	1 lab	bf3ce8a89b
1:196797244 CFHR1 C>G	1	196797244	196797244	C	G	CFHR1	c.475C>G	NM_002113.2	NP_002104.2:p.(Leu159Val)	NC_000001.10:g.196797244C>G	(Likely) benign	1 lab	bf4098ca4e
13:32910716 BRCA2 CA>C	13	32910716	32910718	CA	C	BRCA2	c.2226del	NM_000059.4	NP_000050.3:p.(Gln742HisfsTer30)	NC_000013.10:g.32910718del	(Likely) pathogenic	1 lab	0ef4b819e9
6:66094366 EYS G>GT	6	66094366	66094373	G	GT	EYS	c.1211dup	NM_001142800.1	NP_001136272.1:p.(Asn404LysfsTer3)	NC_000006.11:g.66094373dup	(Likely) pathogenic	1 lab	bf43072505
17:7125506 ACADVL C>G	17	7125506	7125506	C	G	ACADVL	c.763C>G	NM_000018.3	NP_000009.1:p.(Leu255Val)	NC_000017.10:g.7125506C>G	VUS	1 lab	bf43e071f2
12:112888168 PTPN11 T>G	12	112888168	112888168	T	G	PTPN11	c.184T>G	NM_002834.3	NP_002825.3:p.(Tyr62Asp)	NC_000012.11:g.112888168T>G	(Likely) pathogenic	1 lab	bf4645e240
7:16666783 ANKMY2 C>T	7	16666783	16666783	C	T	ANKMY2	c.153G>A	NM_020319.2	NP_064715.1:p.(Met51Ile)	NC_000007.13:g.16666783C>T	VUS	1 lab	bf487305bc
3:148847561 HPS3 C>T	3	148847561	148847561	C	T	HPS3	c.51C>T	NM_032383.5	NP_115759.2:p.(Pro17=)	NC_000003.11:g.148847561C>T	(Likely) benign	1 lab	128fe8fa5b
21:47420723 COL6A1 G>C	21	47420723	47420723	G	C	COL6A1	c.1822+42G>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47420723G>C	(Likely) benign	1 lab	be4d48e5d4
17:7578203 TP53 C>T	17	7578203	7578203	C	T	TP53	c.646G>A	NM_000546.5	NP_000537.3:p.(Val216Met)	NC_000017.10:g.7578203C>T	(Likely) pathogenic	1 lab	bf521a63c5
18:43446734 EPG5 T>C	18	43446734	43446734	T	C	EPG5	c.6621+29A>G	NM_020964.2	NP_066015.2:p.?	NC_000018.9:g.43446734T>C	(Likely) benign	1 lab	bf5348b52f
9:79792664 VPS13A T>A	9	79792664	79792664	T	A	VPS13A	c.44T>A	NM_033305.2	NP_150648.2:p.(Leu15Ter)	NC_000009.11:g.79792664T>A	(Likely) pathogenic	1 lab	bf5473a561
7:151372690 PRKAG2 G>A	7	151372690	151372690	G	A	PRKAG2	c.500C>T	NM_016203.3	NP_057287.2:p.(Thr167Ile)	NC_000007.13:g.151372690G>A	VUS	1 lab	bf55b63bdc
5:89923410 ADGRV1 C>T	5	89923410	89923410	C	T	ADGRV1	c.1055C>T	NM_032119.3	NP_115495.3:p.(Pro352Leu)	NC_000005.9:g.89923410C>T	VUS	1 lab	bf59b15c59
6:26092972 HFE C>T	6	26092972	26092972	C	T	HFE	c.676C>T	NM_000410.4	NP_000401.1:p.(Arg226Trp)	NC_000006.11:g.26092972C>T	VUS	1 lab	bf5a2f3d4b
6:76576321 MYO6 G>T	6	76576321	76576321	G	T	MYO6	c.1753G>T	NM_004999.3	NP_004990.3:p.(Ala585Ser)	NC_000006.11:g.76576321G>T	VUS	1 lab	bf5a43f5d4
11:108121812 ATM T>C	11	108121812	108121812	T	C	ATM	c.1607+13T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121812T>C	(Likely) benign	1 lab	bf5b09386f
19:33321717 SLC7A9 A>G	19	33321717	33321717	A	G	SLC7A9	c.1400-127T>C	NM_001243036.2	NP_001229965.1:p.?	NC_000019.9:g.33321717A>G	(Likely) benign	1 lab	12912e02bd
12:103237425 PAH T>G	12	103237425	103237425	T	G	PAH	c.1198A>C	NM_000277.3	NP_000268.1:p.(Arg400=)	NC_000012.11:g.103237425T>G	(Likely) benign	1 lab	1293ca47d8
11:108098586 ATM A>G	11	108098586	108098586	A	G	ATM	c.156A>G	NM_000051.4	NP_000042.3:p.(Gly52=)	NC_000011.9:g.108098586A>G	(Likely) benign	1 lab	bf5c0b38ab
17:29667607 NF1 G>A	17	29667607	29667607	G	A	NF1	c.6943G>A	NM_000267.3	NP_000258.1:p.(Ala2315Thr)	NC_000017.10:g.29667607G>A	(Likely) benign	1 lab	bf5d6e37c0
9:101608251 GALNT12 A>G	9	101608251	101608251	A	G	GALNT12	c.1459-8A>G	NM_024642.5	NP_078918.3:p.?	NC_000009.11:g.101608251A>G	(Likely) benign	1 lab	1299207774
17:29509791 NF1 C>T	17	29509791	29509791	C	T	NF1	c.888+108C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29509791C>T	(Likely) benign	1 lab	bf5ee73060
2:47672788 MSH2 A>G	2	47672788	47672788	A	G	MSH2	c.1378A>G	NM_000251.3	NP_000242.1:p.(Met460Val)	NC_000002.11:g.47672788A>G	VUS	1 lab	bf605bc9e6
16:1642172 IFT140 C>T	16	1642172	1642172	C	T	IFT140	c.634+5G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1642172C>T	(Likely) pathogenic	1 lab	bf6097881a
19:38939337 RYR1 CCT>C	19	38939337	38939339	CCT	C	RYR1	c.1007_1008del	NM_000540.2	NP_000531.2:p.(Pro336ArgfsTer168)	NC_000019.9:g.38939338_38939339del	(Likely) pathogenic	1 lab	bf62501588
18:48573689 SMAD4 A>G	18	48573689	48573689	A	G	SMAD4	c.249+24A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48573689A>G	(Likely) benign	1 lab	bf62c54d9d
15:75702537 SIN3A TAA>T	15	75702537	75702540	TAA	T	SIN3A	c.1097_1098del	NM_001145357.1	NP_001138829.1:p.(Phe366Ter)	NC_000015.9:g.75702539_75702540del	(Likely) pathogenic	1 lab	bf63dcba7c
22:42607236 TCF20 A>C	22	42607236	42607236	A	C	TCF20	c.4076T>G	NM_001378418.1	NP_001365347.1:p.(Ile1359Ser)	NC_000022.10:g.42607236A>C	VUS	1 lab	bf6e999952
18:61471522 SERPINB7 C>T	18	61471522	61471522	C	T	SERPINB7	c.796C>T	NM_003784.3	NP_003775.1:p.(Arg266Ter)	NC_000018.9:g.61471522C>T	(Likely) pathogenic	1 lab	bf6ff234a5
22:29099497 CHEK2 C>T	22	29099497	29099497	C	T	CHEK2	c.904G>A	NM_007194.3	NP_009125.1:p.(Glu302Lys)	NC_000022.10:g.29099497C>T	VUS	1 lab	bf7066bb5f
10:61894114 ANK3 G>A	10	61894114	61894114	G	A	ANK3	c.2756C>T	NM_020987.5	NP_066267.2:p.(Ser919Leu)	NC_000010.10:g.61894114G>A	VUS	1 lab	bf71954014
X:605329 SHOX G>A	X	605329	605329	G	A	SHOX	c.837G>A	NM_000451.3	NP_000442.1:p.(Leu279=)	NC_000023.10:g.605329G>A	(Likely) benign	1 lab	bf73f87f47
9:129453216 LMX1B G>A	9	129453216	129453216	G	A	LMX1B				NC_000009.11:g.129453216G>A	(Likely) pathogenic	1 lab	bf74272145
12:6127774 VWF C>A	12	6127774	6127774	C	A	VWF	c.4810G>T	NM_000552.3	NP_000543.2:p.(Val1604Phe)	NC_000012.11:g.6127774C>A	(Likely) pathogenic	1 lab	bf747a6e0f
10:73544729 CDH23 G>A	10	73544729	73544729	G	A	CDH23	c.5584G>A	NM_022124.5	NP_071407.4:p.(Glu1862Lys)	NC_000010.10:g.73544729G>A	VUS	1 lab	bf7595c8ce
2:179325735 PJVK C>T	2	179325735	179325735	C	T	PJVK	c.793C>T	NM_001042702.3	NP_001036167.1:p.(Arg265Cys)	NC_000002.11:g.179325735C>T	(Likely) benign	1 lab	bf78db90f9
3:18393675 SATB1 C>T	3	18393675	18393675	C	T	SATB1	c.1588G>A	NM_002971.6	NP_002962.1:p.(Glu530Lys)	NC_000003.11:g.18393675C>T	(Likely) pathogenic	1 lab	bf79b30658
10:18825083 CACNB2 C>T	10	18825083	18825083	C	T	CACNB2	c.1095C>T	NM_000724.3	NP_000715.2:p.(Asn365=)	NC_000010.10:g.18825083C>T	(Likely) benign	1 lab	bf7b05535d
1:196887424 CFHR4 CA>C	1	196887424	196887425	CA	C	CFHR4	c.1626del	NM_001201550.3	NP_001188479.1:p.(Asp544IlefsTer28)	NC_000001.10:g.196887425del	VUS	1 lab	0efa0685fb
19:36227600 KMT2B C>T	19	36227600	36227600	C	T	KMT2B	c.7169C>T	NM_014727.3	NP_055542.1:p.(Ser2390Leu)	NC_000019.9:g.36227600C>T	(Likely) benign	1 lab	0efca0330e
17:61432724 TANC2 A>T	17	61432724	61432724	A	T	TANC2	c.2555A>T	NM_001394998.1	NP_001381927.1:p.(Glu852Val)	NC_000017.10:g.61432724A>T	(Likely) pathogenic	1 lab	bf7ec41d14
17:41244994 BRCA1 G>C	17	41244994	41244994	G	C	BRCA1	c.2554C>G	NM_007294.3	NP_009225.1:p.(Leu852Val)	NC_000017.10:g.41244994G>C	VUS	1 lab	bf7f1f0505
22:51018801 CHKB T>C	22	51018801	51018801	T	C	CHKB	c.722A>G	NM_005198.5	NP_005189.2:p.(Asn241Ser)	NC_000022.10:g.51018801T>C	VUS	1 lab	bf8373f798
7:94042405 COL1A2 G>A	7	94042405	94042405	G	A	COL1A2	c.1514G>A	NM_000089.4	NP_000080.2:p.(Gly505Asp)	NC_000007.13:g.94042405G>A	(Likely) pathogenic	1 lab	bf8493b7f7
11:119148936 CBL G>A	11	119148936	119148936	G	A	CBL	c.1156G>A	NM_005188.3	NP_005179.2:p.(Glu386Lys)	NC_000011.9:g.119148936G>A	VUS	1 lab	bf88bd3a0d
X:153171235 AVPR2 A>T	X	153171235	153171235	A	T	AVPR2	c.275A>T	NM_000054.4	NP_000045.1:p.(Gln92Leu)	NC_000023.10:g.153171235A>T	(Likely) pathogenic	1 lab	bf8979e56b
1:227170420 COQ8A C>T	1	227170420	227170420	C	T	COQ8A	c.895C>T	NM_020247.5	NP_064632.2:p.(Arg299Trp)	NC_000001.10:g.227170420C>T	(Likely) pathogenic	1 lab	0f05019847
12:48370893 COL2A1 C>T	12	48370893	48370893	C	T	COL2A1	c.3319G>A	NM_001844.4	NP_001835.3:p.(Gly1107Arg)	NC_000012.11:g.48370893C>T	VUS	1 lab	bf8e51ee84
11:67925440 KMT5B A>AT	11	67925440	67925441	A	AT	KMT5B	c.2372dup	NM_017635.5	NP_060105.3:p.(Tyr791Ter)	NC_000011.9:g.67925441dup	(Likely) pathogenic	1 lab	bf91ef7448
16:23619209 PALB2 C>T	16	23619209	23619209	C	T	PALB2	c.3326G>A	NM_024675.4	NP_078951.2:p.(Cys1109Tyr)	NC_000016.9:g.23619209C>T	VUS	1 lab	0f05488978
13:32910904 BRCA2 A>G	13	32910904	32910904	A	G	BRCA2	c.2412A>G	NM_000059.3	NP_000050.2:p.(Glu804=)	NC_000013.10:g.32910904A>G	(Likely) benign	1 lab	bf9927f0eb
16:2104402 TSC2 G>A	16	2104402	2104402	G	A	TSC2	c.442G>A	NM_000548.5	NP_000539.2:p.(Asp148Asn)	NC_000016.9:g.2104402G>A	VUS	1 lab	0f0686bd2e
7:81579713 CACNA2D1 A>G	7	81579713	81579713	A	G	CACNA2D1	c.3271T>C	NM_000722.3	NP_000713.2:p.(Leu1091=)	NC_000007.13:g.81579713A>G	(Likely) benign	1 lab	bf9f9b0c4c
2:149247602 MBD5 C>T	2	149247602	149247602	C	T	MBD5	c.3702C>T	NM_018328.4	NP_060798.2:p.(Val1234=)	NC_000002.11:g.149247602C>T	(Likely) benign	1 lab	129a7be6b9
3:129247644 RHO C>T	3	129247644	129247644	C	T	RHO	c.68C>T	NM_000539.3	NP_000530.1:p.(Pro23Leu)	NC_000003.11:g.129247644C>T	(Likely) pathogenic	1 lab	bfa1fe9384
4:111539617 PITX2 T>A	4	111539617	111539617	T	A	PITX2	c.618A>T	NM_153426.2	NP_700475.1:p.(Ser206=)	NC_000004.11:g.111539617T>A	(Likely) benign	1 lab	bfa296c419
1:156849840 NTRK1 T>C	1	156849840	156849840	T	C	NTRK1	c.2096T>C	NM_002529.3	NP_002520.2:p.(Ile699Thr)	NC_000001.10:g.156849840T>C	VUS	1 lab	bfa2b59ff1
16:85667582 GSE1 G>A	16	85667582	85667582	G	A	GSE1	c.70G>A	NM_014615.3	NP_055430.1:p.(Ala24Thr)	NC_000016.9:g.85667582G>A	(Likely) benign	1 lab	bfa8e0ef9d
12:49442542 KMT2D AT>A	12	49442542	49442543	AT	A	KMT2D	c.4030del	NM_003482.3	NP_003473.3:p.(Ile1344LeufsTer32)	NC_000012.11:g.49442543del	(Likely) pathogenic	1 lab	bfa8f4ac43
10:121435987 BAG3 C>G	10	121435987	121435987	C	G	BAG3	c.921C>G	NM_004281.3	NP_004272.2:p.(Thr307=)	NC_000010.10:g.121435987C>G	(Likely) benign	1 lab	bfa91a5d97
6:79675689 PHIP T>C	6	79675689	79675689	T	C	PHIP	c.3290A>G	NM_017934.5	NP_060404.3:p.(Asp1097Gly)	NC_000006.11:g.79675689T>C	VUS	1 lab	bfadba4b1f
14:105174412 INF2 G>A	14	105174412	105174412	G	A	INF2	c.1735+73G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105174412G>A	(Likely) benign	1 lab	13a98a71bf
6:133833896 EYA4 A>T	6	133833896	133833896	A	T	EYA4	c.1319A>T	NM_004100.5	NP_004091.3:p.(Asp440Val)	NC_000006.11:g.133833896A>T	VUS	1 lab	bfae7c8db2
12:53183969 KRT3 C>CGCT	12	53183969	53183977	C	CGCT	KRT3	c.1741_1743dup	NM_057088.2	NP_476429.2:p.(Ser581dup)	NC_000012.11:g.53183975_53183977dup	(Likely) benign	1 lab	bfb23f1afe
1:155452068 ASH1L C>A	1	155452068	155452068	C	A	ASH1L	c.593G>T	NM_018489.3	NP_060959.2:p.(Gly198Val)	NC_000001.10:g.155452068C>A	VUS	1 lab	0f09f1115e
2:179456962 TTN C>G	2	179456962	179456962	C	G	TTN	c.59669G>C	NM_001267550.2	NP_001254479.2:p.(Arg19890Thr)	NC_000002.11:g.179456962C>G	VUS	1 lab	bfb39ea6d2
X:18665416 RS1 C>A	X	18665416	18665416	C	A	RS1	c.221G>T	NM_000330.3	NP_000321.1:p.(Gly74Val)	NC_000023.10:g.18665416C>A	VUS	1 lab	bfb782204d
9:101068527 GABBR2 A>G	9	101068527	101068527	A	G	GABBR2	c.2105T>C	NM_005458.8	NP_005449.5:p.(Met702Thr)	NC_000009.11:g.101068527A>G	(Likely) pathogenic	1 lab	bfbb65d488
6:76564953 MYO6 A>G	6	76564953	76564953	A	G	MYO6	c.1176A>G	NM_004999.3	NP_004990.3:p.(Thr392=)	NC_000006.11:g.76564953A>G	(Likely) benign	1 lab	bfbb962d9e
X:70346868 MED12 C>T	X	70346868	70346868	C	T	MED12	c.2735C>T	NM_005120.2	NP_005111.2:p.(Ser912Leu)	NC_000023.10:g.70346868C>T	(Likely) pathogenic	1 lab	bfbd4fcc8e
19:17115196 CPAMD8 C>A	19	17115196	17115196	C	A	CPAMD8	c.560G>T	NM_015692.5	NP_056507.3:p.(Gly187Val)	NC_000019.9:g.17115196C>A	VUS	1 lab	bfc15c3ee1
X:591042 SHOX A>G	X	591042	591042	A	G	SHOX	c.-432-159A>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591042A>G	(Likely) benign	1 lab	bfc15cad46
1:152281948 FLG G>A	1	152281948	152281948	G	A	FLG	c.5414C>T	NM_002016.1	NP_002007.1:p.(Ala1805Val)	NC_000001.10:g.152281948G>A	(Likely) benign	1 lab	bfc9fc8b73
2:48027872 MSH6 A>C	2	48027872	48027872	A	C	MSH6	c.2750A>C	NM_000179.2	NP_000170.1:p.(Asp917Ala)	NC_000002.11:g.48027872A>C	VUS	1 lab	bfce696ecc
1:228444510 OBSCN A>G	1	228444510	228444510	A	G	OBSCN	c.4744A>G	NM_001271223.2	NP_001258152.2:p.(Met1582Val)	NC_000001.10:g.228444510A>G	(Likely) benign	1 lab	bfd001d552
11:2592593 KCNQ1 G>GT	11	2592593	2592594	G	GT	KCNQ1	c.644dup	NM_000218.3	NP_000209.2:p.(Ser217LeufsTer68)	NC_000011.9:g.2592594dup	(Likely) pathogenic	1 lab	bfd15819dc
16:16259723 ABCC6 G>T	16	16259723	16259723	G	T	ABCC6	c.3063C>A	NM_001171.5	NP_001162.4:p.(Phe1021Leu)	NC_000016.9:g.16259723G>T	VUS	1 lab	bfd198c9f4
X:77294484 MISSING A>G	X	77294484	77294484	A	G	MISSING				NC_000023.10:g.77294484A>G	(Likely) benign	1 lab	bfd37aa9e9
19:50762494 MYH14 C>T	19	50762494	50762494	C	T	MYH14	c.2326C>T	NM_001145809.2	NP_001139281.1:p.(Arg776Cys)	NC_000019.9:g.50762494C>T	VUS	1 lab	bfd4cad117
2:48036787 FBXO11 G>A	2	48036787	48036787	G	A	FBXO11	c.2398C>T	NM_001190274.2	NP_001177203.1:p.(Arg800Trp)	NC_000002.11:g.48036787G>A	VUS	1 lab	bfdce916bb
10:89720768 PTEN G>T	10	89720768	89720768	G	T	PTEN	c.919G>T	NM_000314.4	NP_000305.3:p.(Glu307Ter)	NC_000010.10:g.89720768G>T	(Likely) pathogenic	1 lab	bfdf7b0397
17:1585184 PRPF8 G>C	17	1585184	1585184	G	C	PRPF8	c.583C>G	NM_006445.4	NP_006436.3:p.(Leu195Val)	NC_000017.10:g.1585184G>C	VUS	1 lab	bfe14c1419
2:241712573 KIF1A G>A	2	241712573	241712573	G	A	KIF1A	c.1138C>T	NM_001244008.1	NP_001230937.1:p.(Arg380Trp)	NC_000002.11:g.241712573G>A	(Likely) pathogenic	1 lab	bfe151dcda
9:12694335 TYRP1 C>A	9	12694335	12694335	C	A	TYRP1	c.339C>A	NM_000550.3	NP_000541.1:p.(Cys113Ter)	NC_000009.11:g.12694335C>A	(Likely) pathogenic	1 lab	bfe4920a85
18:52896186 TCF4 G>A	18	52896186	52896186	G	A	TCF4	c.1771C>T	NM_001083962.1	NP_001077431.1:p.(Leu591Phe)	NC_000018.9:g.52896186G>A	(Likely) pathogenic	1 lab	bfe4e3299a
7:154595624 MISSING C>T	7	154595624	154595624	C	T	MISSING				NC_000007.13:g.154595624C>T	(Likely) benign	1 lab	c894239473
X:153640225 TAFAZZIN C>CT	X	153640225	153640226	C	CT	TAFAZZIN	c.45_46insT	NM_000116.4	NP_000107.1:p.(Thr16TyrfsTer118)	NC_000023.10:g.153640225_153640226insT	VUS	1 lab	bfe62e6ba7
3:38921612 SCN11A T>C	3	38921612	38921612	T	C	SCN11A	c.3222A>G	NM_014139.3	NP_054858.2:p.(Ile1074Met)	NC_000003.11:g.38921612T>C	VUS	1 lab	bfe79e383c
22:21348954 LZTR1 G>A	22	21348954	21348954	G	A	LZTR1	c.1723G>A	NM_006767.3	NP_006758.2:p.(Asp575Asn)	NC_000022.10:g.21348954G>A	(Likely) benign	1 lab	bfe9e9d2c1
1:111146828 KCNA2 C>A	1	111146828	111146828	C	A	KCNA2	c.577G>T	NM_004974.4	NP_004965.1:p.(Glu193Ter)	NC_000001.10:g.111146828C>A	(Likely) pathogenic	1 lab	129cb24df1
1:237947968 RYR2 T>G	1	237947968	237947968	T	G	RYR2	c.12956T>G	NM_001035.2	NP_001026.2:p.(Val4319Gly)	NC_000001.10:g.237947968T>G	VUS	1 lab	bfef50bd62
2:9658130 ADAM17 A>G	2	9658130	9658130	A	G	ADAM17	c.1103-12T>C	NM_003183.6	NP_003174.3:p.?	NC_000002.11:g.9658130A>G	(Likely) benign	1 lab	12a355e6d4
1:12065776 MFN2 A>G	1	12065776	12065776	A	G	MFN2	c.1504A>G	NM_014874.3	NP_055689.1:p.(Lys502Glu)	NC_000001.10:g.12065776A>G	VUS	1 lab	bff990e7cb
12:57963186 KIF5A C>T	12	57963186	57963186	C	T	KIF5A	c.967C>T	NM_004984.3	NP_004975.2:p.(Arg323Trp)	NC_000012.11:g.57963186C>T	VUS	1 lab	bffcfb7555
5:153857493 HAND1 G>A	5	153857493	153857493	G	A	HAND1	c.76C>T	NM_004821.2	NP_004812.1:p.(Pro26Ser)	NC_000005.9:g.153857493G>A	(Likely) benign	1 lab	bffe319b9a
11:120998941 TECTA T>C	11	120998941	120998941	T	C	TECTA				NC_000011.9:g.120998941T>C	VUS	1 lab	c2e75bdc05
1:225609789 LBR G>A	1	225609789	225609789	G	A	LBR	c.356C>T	NM_002296.4	NP_002287.2:p.(Pro119Leu)	NC_000001.10:g.225609789G>A	VUS	1 lab	bffeee8d94
7:128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT>G	7	128480793	128480825	GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT	G	FLNC	c.1676+66_1677-63del	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128480794_128480825del	(Likely) benign	1 lab	c00728ece2
19:36558774 WDR62 C>T	19	36558774	36558774	C	T	WDR62	c.744C>T	NM_001083961.1	NP_001077430.1:p.(Gly248=)	NC_000019.9:g.36558774C>T	VUS	1 lab	c008060837
22:42607422 TCF20 T>TA	22	42607422	42607423	T	TA	TCF20	c.3889_3890insT	NM_005650.1	NP_005641.1:p.(Asn1297IlefsTer17)	NC_000022.10:g.42607422_42607423insA	(Likely) pathogenic	1 lab	c0083cb60f
11:105797547 GRIA4 C>A	11	105797547	105797547	C	A	GRIA4	c.1928C>A	NM_000829.3	NP_000820.3:p.(Ala643Asp)	NC_000011.9:g.105797547C>A	(Likely) pathogenic	1 lab	c008c5b328
7:128491001 FLNC A>T	7	128491001	128491001	A	T	FLNC	c.5539+4A>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128491001A>T	VUS	1 lab	c0120db992
2:46607774 EPAS1 G>A	2	46607774	46607774	G	A	EPAS1	c.1963G>A	NM_001430.5	NP_001421.2:p.(Gly655Arg)	NC_000002.11:g.46607774G>A	(Likely) benign	1 lab	c014e2817b
7:94047099 COL1A2 G>A	7	94047099	94047099	G	A	COL1A2	c.1927G>A	NM_000089.4	NP_000080.2:p.(Gly643Arg)	NC_000007.13:g.94047099G>A	(Likely) pathogenic	1 lab	c015cef744
10:104162087 NFKB2 C>T	10	104162087	104162087	C	T	NFKB2				NC_000010.10:g.104162087C>T	VUS	1 lab	c01c67eb1d
8:61707544 CHD7 G>A	8	61707544	61707544	G	A	CHD7				NC_000008.10:g.61707544G>A	(Likely) pathogenic	1 lab	c01e7954a8
4:15994019 PROM1 G>A	4	15994019	15994019	G	A	PROM1	c.1768-5C>T	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.15994019G>A	(Likely) benign	1 lab	c01ecf5cb3
7:94027043 COL1A2 C>T	7	94027043	94027043	C	T	COL1A2	c.71-17C>T	NM_000089.3	NP_000080.2:p.?	NC_000007.13:g.94027043C>T	(Likely) benign	1 lab	c0202c04df
7:140434563 BRAF G>T	7	140434563	140434563	G	T	BRAF	c.2135C>A	NM_004333.6	NP_004324.2:p.(Ala712Asp)	NC_000007.13:g.140434563G>T	(Likely) pathogenic	1 lab	c021d48b89
17:58740482 PPM1D G>GTA	17	58740482	58740483	G	GTA	PPM1D	c.1387_1388insTA	NM_003620.3	NP_003611.1:p.(Gly463ValfsTer3)	NC_000017.10:g.58740482_58740483insTA	(Likely) pathogenic	1 lab	c023b61267
17:79478230 ACTG1 G>C	17	79478230	79478230	G	C	ACTG1	c.786C>G	NM_001614.3	NP_001605.1:p.(Phe262Leu)	NC_000017.10:g.79478230G>C	VUS	1 lab	c02582a2b2
5:136963994 KLHL3 C>T	5	136963994	136963994	C	T	KLHL3	c.1583G>A	NM_017415.3	NP_059111.2:p.(Arg528His)	NC_000005.9:g.136963994C>T	(Likely) pathogenic	1 lab	c026445ecd
19:39034298 RYR1 C>A	19	39034298	39034298	C	A	RYR1				NC_000019.9:g.39034298C>A	(Likely) pathogenic	1 lab	c027d035a9
10:122664863 WDR11 G>T	10	122664863	122664863	G	T	WDR11	c.3226G>T	NM_018117.12	NP_060587.8:p.(Ala1076Ser)	NC_000010.10:g.122664863G>T	VUS	1 lab	c0280cb66a
2:32366957 SPAST G>A	2	32366957	32366957	G	A	SPAST	c.1494-16G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32366957G>A	(Likely) pathogenic	1 lab	c02bce364f
2:25464537 DNMT3A C>T	2	25464537	25464537	C	T	DNMT3A	c.1976G>A	NM_022552.4	NP_072046.2:p.(Arg659His)	NC_000002.11:g.25464537C>T	VUS	1 lab	c02cc1327a
17:57763057 CLTC CCT>C	17	57763057	57763059	CCT	C	CLTC	c.4728_4729del	NM_001288653.1	NP_001275582.1:p.(Cys1577LeufsTer39)	NC_000017.10:g.57763058_57763059del	(Likely) pathogenic	1 lab	c0302e41bb
1:207640236 CR2 C>T	1	207640236	207640236	C	T	CR2				NC_000001.10:g.207640236C>T	(Likely) pathogenic	1 lab	c034c716c4
1:245018769 HNRNPU T>C	1	245018769	245018769	T	C	HNRNPU	c.2309A>G	NM_031844.2	NP_114032.2:p.(Asn770Ser)	NC_000001.10:g.245018769T>C	(Likely) benign	1 lab	c037b5bc15
2:179428292 TTN T>A	2	179428292	179428292	T	A	TTN	c.82567A>T	NM_001267550.2	NP_001254479.2:p.(Thr27523Ser)	NC_000002.11:g.179428292T>A	(Likely) benign	1 lab	c0386af969
6:129498874 LAMA2 T>C	6	129498874	129498874	T	C	LAMA2	c.1330T>C	NM_000426.3	NP_000417.2:p.(Cys444Arg)	NC_000006.11:g.129498874T>C	VUS	1 lab	c03ca907d3
X:38260674 OTC C>T	X	38260674	38260674	C	T	OTC	c.533C>T	NM_000531.6	NP_000522.3:p.(Thr178Met)	NC_000023.10:g.38260674C>T	(Likely) pathogenic	1 lab	c03dd6129e
2:96962320 SNRNP200 G>A	2	96962320	96962320	G	A	SNRNP200	c.1625C>T	NM_014014.4	NP_054733.2:p.(Ala542Val)	NC_000002.11:g.96962320G>A	VUS	1 lab	c0410661bf
10:95079687 MYOF C>A	10	95079687	95079687	C	A	MYOF	c.5540G>T	NM_013451.3	NP_038479.1:p.(Arg1847Leu)	NC_000010.10:g.95079687C>A	VUS	1 lab	c04add69e7
2:167262592 SCN7A C>T	2	167262592	167262592	C	T	SCN7A	c.4547G>A	NM_002976.4	NP_002967.2:p.(Arg1516Lys)	NC_000002.11:g.167262592C>T	(Likely) benign	1 lab	c04cacf355
1:116287547 CASQ2 T>C	1	116287547	116287547	T	C	CASQ2	c.235-14A>G	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116287547T>C	(Likely) benign	1 lab	12a52c6fc8
12:52180349 SCN8A C>T	12	52180349	52180349	C	T	SCN8A				NC_000012.11:g.52180349C>T	(Likely) benign	1 lab	c051276997
22:38374099 SOX10 C>A	22	38374099	38374099	C	A	SOX10	c.472G>T	NM_006941.3	NP_008872.1:p.(Glu158Ter)	NC_000022.10:g.38374099C>A	(Likely) pathogenic	1 lab	c05602f5db
3:38627629 SCN5A A>G	3	38627629	38627629	A	G	SCN5A	c.2437-97T>C	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38627629A>G	(Likely) benign	1 lab	c05a0f8104
X:100617678 BTK C>T	X	100617678	100617678	C	T	BTK	c.392-1G>A	NM_000061.3	NP_000052.1:p.?	NC_000023.10:g.100617678C>T	(Likely) pathogenic	1 lab	c05a6bd48c
15:93527730 CHD2 G>C	15	93527730	93527730	G	C	CHD2				NC_000015.9:g.93527730G>C	VUS	1 lab	c05b94b863
9:967981 DMRT1 G>C	9	967981	967981	G	C	DMRT1	c.968-4G>C	NM_021951.3	NP_068770.2:p.?	NC_000009.11:g.967981G>C	(Likely) benign	1 lab	0f1d4b6828
10:104268953 SUFU T>C	10	104268953	104268953	T	C	SUFU	c.210T>C	NM_016169.3	NP_057253.2:p.(Tyr70=)	NC_000010.10:g.104268953T>C	(Likely) benign	1 lab	c05c71c4d5
9:77277447 RORB G>T	9	77277447	77277447	G	T	RORB	c.817G>T	NM_006914.4	NP_008845.2:p.(Val273Leu)	NC_000009.11:g.77277447G>T	(Likely) pathogenic	1 lab	c05ca3ab05
X:153172034 AVPR2 G>A	X	153172034	153172034	G	A	AVPR2	c.968G>A	NM_000054.4	NP_000045.1:p.(Trp323Ter)	NC_000023.10:g.153172034G>A	(Likely) pathogenic	1 lab	c05da1d90a
2:241808463 AGXT A>G	2	241808463	241808463	A	G	AGXT	c.165+16A>G	NM_000030.3	NP_000021.1:p.?	NC_000002.11:g.241808463A>G	(Likely) benign	1 lab	c06041c722
7:83643592 SEMA3A C>T	7	83643592	83643592	C	T	SEMA3A	c.743G>A	NM_006080.2	NP_006071.1:p.(Arg248His)	NC_000007.13:g.83643592C>T	VUS	1 lab	c062a50868
12:48387827 COL2A1 C>A	12	48387827	48387827	C	A	COL2A1	c.820G>T	NM_001844.5	NP_001835.3:p.(Ala274Ser)	NC_000012.11:g.48387827C>A	VUS	1 lab	c0635abdc1
16:30718537 SRCAP C>T	16	30718537	30718537	C	T	SRCAP	c.340C>T	NM_006662.2	NP_006653.2:p.(Arg114Trp)	NC_000016.9:g.30718537C>T	VUS	1 lab	c0636e3715
5:90136481 ADGRV1 G>T	5	90136481	90136481	G	T	ADGRV1	c.16698G>T	NM_032119.3	NP_115495.3:p.(Leu5566Phe)	NC_000005.9:g.90136481G>T	VUS	1 lab	c063c4fff8
4:55573381 KIT G>A	4	55573381	55573381	G	A	KIT	c.1043G>A	NM_000222.2	NP_000213.1:p.(Trp348Ter)	NC_000004.11:g.55573381G>A	(Likely) pathogenic	1 lab	c06804d0fc
22:22127197 MAPK1 G>C	22	22127197	22127197	G	C	MAPK1	c.931C>G	NM_002745.5	NP_002736.3:p.(Pro311Ala)	NC_000022.10:g.22127197G>C	VUS	1 lab	c06a067f4a
5:112175348 APC GAA>G	5	112175348	112175350	GAA	G	APC	c.4058_4059del	NM_000038.6	NP_000029.2:p.(Glu1353ValfsTer21)	NC_000005.9:g.112175349_112175350del	(Likely) pathogenic	1 lab	c06d280d2e
3:38833558 SCN10A G>A	3	38833558	38833558	G	A	SCN10A	c.372C>T	NM_006514.4	NP_006505.4:p.(Ile124=)	NC_000003.11:g.38833558G>A	(Likely) benign	1 lab	c06d956d52
17:41243919 BRCA1 T>C	17	41243919	41243919	T	C	BRCA1	c.3629A>G	NM_007294.3	NP_009225.1:p.(Glu1210Gly)	NC_000017.10:g.41243919T>C	VUS	1 lab	c06f5c4c7c
18:43462265 EPG5 C>T	18	43462265	43462265	C	T	EPG5	c.5492G>A	NM_020964.3	NP_066015.2:p.(Ser1831Asn)	NC_000018.9:g.43462265C>T	VUS	1 lab	0f200df292
1:228432060 OBSCN C>G	1	228432060	228432060	C	G	OBSCN	c.3545C>G	NM_001271223.2	NP_001258152.2:p.(Ala1182Gly)	NC_000001.10:g.228432060C>G	(Likely) benign	1 lab	c0759ac32d
16:1633370 IFT140 C>T	16	1633370	1633370	C	T	IFT140	c.1377G>A	NM_014714.4	NP_055529.2:p.(Trp459Ter)	NC_000016.9:g.1633370C>T	(Likely) pathogenic	1 lab	c076b2f32a
16:56936358 SLC12A3 G>T	16	56936358	56936358	G	T	SLC12A3	c.2821G>T	NM_000339.2	NP_000330.2:p.(Glu941Ter)	NC_000016.9:g.56936358G>T	(Likely) pathogenic	1 lab	c07827a546
1:245027000 HNRNPU TCGC>GTCTT	1	245027000	245027003	TCGC	GTCTT	HNRNPU	c.607_610delinsAAGAC	NM_031844.3	NP_114032.2:p.(Ala203LysfsTer11)	NC_000001.10:g.245027000_245027003delinsGTCTT	(Likely) pathogenic	1 lab	c078d368eb
X:25022935 ARX G>T	X	25022935	25022935	G	T	ARX	c.1541C>A	NM_139058.2	NP_620689.1:p.(Ser514Ter)	NC_000023.10:g.25022935G>T	(Likely) pathogenic	1 lab	c07c385ba9
X:119004787 RNF113A T>A	X	119004787	119004787	T	A	RNF113A	c.790A>T	NM_006978.3	NP_008909.1:p.(Ile264Phe)	NC_000023.10:g.119004787T>A	VUS	1 lab	c07fbc46f2
12:52180350 SCN8A G>T	12	52180350	52180350	G	T	SCN8A	c.3967G>T	NM_014191.4	NP_055006.1:p.(Ala1323Ser)	NC_000012.11:g.52180350G>T	(Likely) pathogenic	1 lab	c080e524f9
4:187201362 F11 T>A	4	187201362	187201362	T	A	F11	c.866-15T>A	NM_000128.3	NP_000119.1:p.?	NC_000004.11:g.187201362T>A	VUS	1 lab	c087658d6e
17:68128419 KCNJ16 C>T	17	68128419	68128419	C	T	KCNJ16	c.191C>T	NM_001270422.1	NP_001257351.1:p.(Thr64Ile)	NC_000017.10:g.68128419C>T	VUS	1 lab	c0878e6839
16:2147204 PKD1 T>TG	16	2147204	2147205	T	TG	PKD1	c.10443dup	NM_001009944.2	NP_001009944.2:p.(Ser3482GlnfsTer145)	NC_000016.9:g.2147205dup	(Likely) pathogenic	1 lab	c0879b0bb4
16:89357446 ANKRD11 C>T	16	89357446	89357446	C	T	ANKRD11	c.372G>A	NM_001256182.1	NP_001243111.1:p.(Thr124=)	NC_000016.9:g.89357446C>T	(Likely) benign	1 lab	c08985146b
3:121712805 ILDR1 G>C	3	121712805	121712805	G	C	ILDR1	c.791C>G	NM_001199799.1	NP_001186728.1:p.(Pro264Arg)	NC_000003.11:g.121712805G>C	(Likely) benign	1 lab	c097dfdcf0
2:179648852 TTN G>C	2	179648852	179648852	G	C	TTN	c.2720C>G	NM_001267550.2	NP_001254479.2:p.(Thr907Ser)	NC_000002.11:g.179648852G>C	(Likely) benign	1 lab	c09963a979
1:156146471 SEMA4A C>G	1	156146471	156146471	C	G	SEMA4A	c.1969C>G	NM_022367.3	NP_071762.2:p.(Pro657Ala)	NC_000001.10:g.156146471C>G	VUS	1 lab	c09a974b15
2:167099133 SCN9A T>G	2	167099133	167099133	T	G	SCN9A	c.3506A>C	NM_001365536.1	NP_001352465.1:p.(Asn1169Thr)	NC_000002.11:g.167099133T>G	(Likely) benign	1 lab	c09b608008
1:207300259 C4BPA A>G	1	207300259	207300259	A	G	C4BPA	c.889+19A>G	NM_000715.3	NP_000706.1:p.?	NC_000001.10:g.207300259A>G	(Likely) benign	1 lab	c09cc62804
19:36339278 NPHS1 A>G	19	36339278	36339278	A	G	NPHS1	c.1192T>C	NM_004646.3	NP_004637.1:p.(Ser398Pro)	NC_000019.9:g.36339278A>G	(Likely) pathogenic	1 lab	c09d04d38c
6:152674431 SYNE1 T>A	6	152674431	152674431	T	A	SYNE1	c.11220A>T	NM_182961.3	NP_892006.3:p.(Thr3740=)	NC_000006.11:g.152674431T>A	(Likely) benign	1 lab	c0a5e02410
5:112173249 APC G>A	5	112173249	112173249	G	A	APC	c.1959-1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112173249G>A	(Likely) pathogenic	1 lab	c0a6383e9e
18:32446055 DTNA T>C	18	32446055	32446055	T	C	DTNA	c.1483-20T>C	NM_001198939.2	NP_001185868.1:p.?	NC_000018.9:g.32446055T>C	(Likely) benign	1 lab	0f248f0d84
X:110988113 ALG13 C>T	X	110988113	110988113	C	T	ALG13	c.2913C>T	NM_001099922.3	NP_001093392.1:p.(Ser971=)	NC_000023.10:g.110988113C>T	(Likely) benign	1 lab	0f2bce5c09
5:149274769 PDE6A G>T	5	149274769	149274769	G	T	PDE6A	c.1705C>A	NM_000440.2	NP_000431.2:p.(Gln569Lys)	NC_000005.9:g.149274769G>T	(Likely) pathogenic	1 lab	c0a957f5f5
11:654020 DEAF1 A>G	11	654020	654020	A	G	DEAF1	c.1535T>C	NM_021008.4	NP_066288.2:p.(Met512Thr)	NC_000011.9:g.654020A>G	VUS	1 lab	c0a9a5149f
3:69987093 MITF C>T	3	69987093	69987093	C	T	MITF	c.154C>T	NM_000248.3	NP_000239.1:p.(Pro52Ser)	NC_000003.11:g.69987093C>T	(Likely) benign	1 lab	c0a9f0ba83
11:17631714 OTOG C>T	11	17631714	17631714	C	T	OTOG	c.4903C>T	NM_001277269.1	NP_001264198.1:p.(Arg1635Ter)	NC_000011.9:g.17631714C>T	(Likely) pathogenic	1 lab	c0abe6cd65
20:44453008 TNNC2 C>G	20	44453008	44453008	C	G	TNNC2	c.237G>C	NM_003279.2	NP_003270.1:p.(Met79Ile)	NC_000020.10:g.44453008C>G	VUS	1 lab	c0ad18c9d3
12:133219831 POLE T>C	12	133219831	133219831	T	C	POLE	c.4530A>G	NM_006231.2	NP_006222.2:p.(Ala1510=)	NC_000012.11:g.133219831T>C	(Likely) benign	1 lab	c0afa39c84
4:3478218 DOK7 G>A	4	3478218	3478218	G	A	DOK7	c.481G>A	NM_173660.4	NP_775931.3:p.(Gly161Arg)	NC_000004.11:g.3478218G>A	(Likely) pathogenic	1 lab	c0b3a5d639
5:45262545 HCN1 G>C	5	45262545	45262545	G	C	HCN1	c.2151C>G	NM_021072.4	NP_066550.2:p.(Phe717Leu)	NC_000005.9:g.45262545G>C	VUS	1 lab	1d48bdcabe
11:124517292 SIAE G>A	11	124517292	124517292	G	A	SIAE	c.935C>T	NM_170601.4	NP_733746.1:p.(Thr312Met)	NC_000011.9:g.124517292G>A	VUS	1 lab	c0b6e01e18
11:61548744 MYRF AG>A	11	61548744	61548745	AG	A	MYRF	c.2708del	NM_001127392.2	NP_001120864.1:p.(Ser903ThrfsTer114)	NC_000011.9:g.61548745del	(Likely) pathogenic	1 lab	c0ba5896b7
13:100634899 ZIC2 A>G	13	100634899	100634899	A	G	ZIC2	c.581A>G	NM_007129.3	NP_009060.2:p.(Tyr194Cys)	NC_000013.10:g.100634899A>G	VUS	1 lab	c0bbda0db5
4:155528124 FGG A>G	4	155528124	155528124	A	G	FGG	c.862T>C	NM_021870.2	NP_068656.2:p.(Tyr288His)	NC_000004.11:g.155528124A>G	(Likely) pathogenic	1 lab	c0c1487326
17:59760836 BRIP1 T>C	17	59760836	59760836	T	C	BRIP1	c.3571A>G	NM_032043.3	NP_114432.2:p.(Ile1191Val)	NC_000017.10:g.59760836T>C	(Likely) benign	1 lab	c0c3fb4bee
16:89616994 SPG7 G>T	16	89616994	89616994	G	T	SPG7	c.1756G>T	NM_003119.2	NP_003110.1:p.(Glu586Ter)	NC_000016.9:g.89616994G>T	(Likely) pathogenic	1 lab	c0c5b236c0
2:164466099 MISSING T>C	2	164466099	164466099	T	C	MISSING				NC_000002.11:g.164466099T>C	VUS	1 lab	c41155c8ed
10:88441279 LDB3 G>A	10	88441279	88441279	G	A	LDB3	c.408G>A	NM_001171610.2	NP_001165081.1:p.(Pro136=)	NC_000010.10:g.88441279G>A	(Likely) benign	1 lab	12acc37ddc
3:186504391 EIF4A2 C>T	3	186504391	186504391	C	T	EIF4A2	c.728C>T	NM_001967.3	NP_001958.2:p.(Thr243Ile)	NC_000003.11:g.186504391C>T	VUS	1 lab	c0ce777756
3:122002546 CASR G>C	3	122002546	122002546	G	C	CASR	c.1745G>C	NM_000388.3	NP_000379.2:p.(Cys582Ser)	NC_000003.11:g.122002546G>C	(Likely) pathogenic	1 lab	c0d16ac33f
3:12645688 RAF1 G>C	3	12645688	12645688	G	C	RAF1	c.781C>G	NM_002880.3	NP_002871.1:p.(Pro261Ala)	NC_000003.11:g.12645688G>C	(Likely) pathogenic	1 lab	c0d2164dcd
6:31919184 CFB G>A	6	31919184	31919184	G	A	CFB	c.2023G>A	NM_001710.6	NP_001701.2:p.(Val675Met)	NC_000006.11:g.31919184G>A	VUS	1 lab	c0d2fc7017
22:37453460 KCTD17 G>A	22	37453460	37453460	G	A	KCTD17	c.413G>A	NM_001282684.2	NP_001269613.2:p.(Arg138His)	NC_000022.10:g.37453460G>A	(Likely) pathogenic	1 lab	c0d5372737
3:52431733 DNAH1 C>T	3	52431733	52431733	C	T	DNAH1	c.11798C>T	NM_015512.5	NP_056327.4:p.(Ser3933Phe)	NC_000003.11:g.52431733C>T	VUS	1 lab	0f2c852fb2
22:29107934 CHEK2 C>T	22	29107934	29107934	C	T	CHEK2	c.755G>A	NM_007194.4	NP_009125.1:p.(Ser252Asn)	NC_000022.10:g.29107934C>T	(Likely) benign	1 lab	c0dfaa5f1a
12:6131154 VWF A>G	12	6131154	6131154	A	G	VWF	c.3586T>C	NM_000552.3	NP_000543.2:p.(Cys1196Arg)	NC_000012.11:g.6131154A>G	(Likely) pathogenic	1 lab	c0e0df6e43
1:215960057 USH2A C>T	1	215960057	215960057	C	T	USH2A	c.10342G>A	NM_206933.4	NP_996816.3:p.(Glu3448Lys)	NC_000001.10:g.215960057C>T	(Likely) pathogenic	1 lab	c0e13e42ca
3:15686027 BTD G>A	3	15686027	15686027	G	A	BTD	c.664G>A	NM_000060.4	NP_000051.1:p.(Asp222Asn)	NC_000003.11:g.15686027G>A	VUS	1 lab	c0e1d430a9
11:59861473 MS4A2 G>T	11	59861473	59861473	G	T	MS4A2	c.574G>T	NM_000139.5	NP_000130.1:p.(Gly192Ter)	NC_000011.9:g.59861473G>T	VUS	1 lab	c0e2a8c118
7:116340223 MET T>C	7	116340223	116340223	T	C	MET	c.1085T>C	NM_000245.3	NP_000236.2:p.(Met362Thr)	NC_000007.13:g.116340223T>C	(Likely) benign	1 lab	c0e4dac723
2:167262897 SCN7A C>T	2	167262897	167262897	C	T	SCN7A	c.4242G>A	NM_002976.3	NP_002967.2:p.(Val1414=)	NC_000002.11:g.167262897C>T	(Likely) benign	1 lab	c0e52fc04c
2:179568916 TTN T>G	2	179568916	179568916	T	G	TTN	c.30181A>C	NM_001267550.2	NP_001254479.2:p.(Lys10061Gln)	NC_000002.11:g.179568916T>G	VUS	1 lab	0f2e56baf3
1:215990355 USH2A T>C	1	215990355	215990355	T	C	USH2A	c.9554A>G	NM_206933.2	NP_996816.2:p.(Tyr3185Cys)	NC_000001.10:g.215990355T>C	VUS	1 lab	c0e85e972f
11:124756719 ROBO4 C>T	11	124756719	124756719	C	T	ROBO4	c.2436-1G>A	NM_019055.6	NP_061928.4:p.?	NC_000011.9:g.124756719C>T	VUS	1 lab	1df11743d1
1:76226952 ACADM T>C	1	76226952	76226952	T	C	ACADM	c.1190T>C	NM_001286043.1	NP_001272972.1:p.(Ile397Thr)	NC_000001.10:g.76226952T>C	VUS	1 lab	c0e8e8f046
16:14026007 ERCC4 G>A	16	14026007	14026007	G	A	ERCC4	c.974-7G>A	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14026007G>A	(Likely) benign	1 lab	0f33762117
17:7806599 CHD3 C>T	17	7806599	7806599	C	T	CHD3	c.3505C>T	NM_001005273.2	NP_001005273.1:p.(Arg1169Trp)	NC_000017.10:g.7806599C>T	(Likely) pathogenic	1 lab	c0eded1939
10:76741660 KAT6B C>T	10	76741660	76741660	C	T	KAT6B	c.2347C>T	NM_012330.3	NP_036462.2:p.(Arg783Ter)	NC_000010.10:g.76741660C>T	(Likely) pathogenic	1 lab	c0f02553a9
3:10188161 VHL G>A	3	10188161	10188161	G	A	VHL	c.341-37G>A	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10188161G>A	(Likely) benign	1 lab	c0f05a3a2f
5:76029319 F2R G>A	5	76029319	76029319	G	A	F2R	c.1269G>A	NM_001992.5	NP_001983.2:p.(Leu423=)	NC_000005.9:g.76029319G>A	(Likely) benign	1 lab	12b0236d3a
16:23400272 COG7 G>A	16	23400272	23400272	G	A	COG7	c.2282C>T	NM_153603.3	NP_705831.1:p.(Thr761Ile)	NC_000016.9:g.23400272G>A	VUS	1 lab	c0f2610e6a
1:94512636 ABCA4 T>G	1	94512636	94512636	T	G	ABCA4	c.2757A>C	NM_000350.2	NP_000341.2:p.(Glu919Asp)	NC_000001.10:g.94512636T>G	VUS	1 lab	c0f3aeeb32
X:601553 SHOX A>T	X	601553	601553	A	T	SHOX	c.487-3A>T	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.601553A>T	(Likely) benign	1 lab	0f3897c253
5:53606295 ARL15 T>C	5	53606295	53606295	T	C	ARL15	c.15A>G	NM_019087.2	NP_061960.1:p.(Arg5=)	NC_000005.9:g.53606295T>C	(Likely) benign	1 lab	c0f6dc0fcb
1:34023366 CSMD2 C>T	1	34023366	34023366	C	T	CSMD2	c.8711G>A	NM_001281956.1	NP_001268885.1:p.(Gly2904Asp)	NC_000001.10:g.34023366C>T	VUS	1 lab	c0f747f3f2
12:88512290 CEP290 G>A	12	88512290	88512290	G	A	CEP290	c.1681C>T	NM_025114.3	NP_079390.3:p.(Gln561Ter)	NC_000012.11:g.88512290G>A	(Likely) pathogenic	1 lab	c0fc37de38
12:48369775 COL2A1 G>A	12	48369775	48369775	G	A	COL2A1	c.3568C>T	NM_001844.4	NP_001835.3:p.(Arg1190Cys)	NC_000012.11:g.48369775G>A	VUS	1 lab	c0fd6d0185
12:22063225 ABCC9 G>T	12	22063225	22063225	G	T	ABCC9	c.1186C>A	NM_005691.2	NP_005682.2:p.(Leu396Ile)	NC_000012.11:g.22063225G>T	VUS	1 lab	c0fe5554c3
3:14964562 FGD5 C>T	3	14964562	14964562	C	T	FGD5	c.3817C>T	NM_152536.3	NP_689749.3:p.(Arg1273Trp)	NC_000003.11:g.14964562C>T	(Likely) pathogenic	1 lab	c0fe7beadc
2:44161377 LRPPRC AAAG>A	2	44161377	44161384	AAAG	A	LRPPRC				NC_000002.11:g.44161382_44161384del	VUS	1 lab	c102b465c3
1:201333308 TNNT2 G>A	1	201333308	201333308	G	A	TNNT2	c.459+118C>T	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201333308G>A	(Likely) benign	1 lab	c102edb507
12:116428918 MED13L G>A	12	116428918	116428918	G	A	MED13L	c.3841C>T	NM_015335.5	NP_056150.1:p.(Gln1281Ter)	NC_000012.11:g.116428918G>A	(Likely) pathogenic	1 lab	0f399841fe
2:32475685 NLRC4 C>T	2	32475685	32475685	C	T	NLRC4	c.1248G>A	NM_021209.4	NP_067032.3:p.(Val416=)	NC_000002.11:g.32475685C>T	(Likely) benign	1 lab	12b0ae0c53
2:127864922 BIN1 G>C	2	127864922	127864922	G	C	BIN1				NC_000002.11:g.127864922G>C	(Likely) benign	1 lab	c1074a8ee3
8:22865140 RHOBTB2 G>A	8	22865140	22865140	G	A	RHOBTB2	c.1448G>A	NM_001160036.1	NP_001153508.1:p.(Arg483His)	NC_000008.10:g.22865140G>A	VUS	1 lab	c107993678
1:150769375 CTSK C>T	1	150769375	150769375	C	T	CTSK	c.891-1G>A	NM_000396.3	NP_000387.1:p.?	NC_000001.10:g.150769375C>T	(Likely) pathogenic	1 lab	c10889112e
1:214488084 SMYD2 TG>T	1	214488084	214488085	TG	T	SMYD2	c.238-20del	NM_020197.3	NP_064582.2:p.?	NC_000001.10:g.214488085del	(Likely) benign	1 lab	12b2ac0a92
17:56435581 RNF43 C>T	17	56435581	56435581	C	T	RNF43	c.1556G>A	NM_017763.6	NP_060233.3:p.(Arg519Gln)	NC_000017.10:g.56435581C>T	(Likely) benign	1 lab	c1108cafb3
5:140998447 DIAPH1 C>T	5	140998447	140998447	C	T	DIAPH1	c.35G>A	NM_005219.4	NP_005210.3:p.(Arg12His)	NC_000005.9:g.140998447C>T	VUS	1 lab	c11181f8a4
5:1065399 SLC12A7 C>T	5	1065399	1065399	C	T	SLC12A7	c.2436G>A	NM_006598.2	NP_006589.2:p.(Val812=)	NC_000005.9:g.1065399C>T	(Likely) benign	1 lab	c111d0d553
2:210559759 MAP2 AG>A	2	210559759	210559760	AG	A	MAP2				NC_000002.11:g.210559760del	VUS	1 lab	c111d2f193
2:179473503 TTN G>A	2	179473503	179473503	G	A	TTN	c.52235C>T	NM_001267550.2	NP_001254479.2:p.(Thr17412Ile)	NC_000002.11:g.179473503G>A	(Likely) benign	1 lab	c112df19cc
15:63356330 TPM1 T>C	15	63356330	63356330	T	C	TPM1	c.840T>C	NM_001018005.1	NP_001018005.1:p.(Asp280=)	NC_000015.9:g.63356330T>C	(Likely) benign	1 lab	c11497581b
11:130286827 ADAMTS8 A>T	11	130286827	130286827	A	T	ADAMTS8	c.1096+8T>A	NM_007037.6	NP_008968.4:p.?	NC_000011.9:g.130286827A>T	(Likely) benign	1 lab	12b30110f9
12:50898933 DIP2B C>T	12	50898933	50898933	C	T	DIP2B				NC_000012.11:g.50898933C>T	VUS	1 lab	c118c7cd5c
3:48638418 UQCRC1 CCAT>C	3	48638418	48638421	CCAT	C	UQCRC1	c.953_955del	NM_003365.3	NP_003356.2:p.(Tyr318_Gly319delinsCys)	NC_000003.11:g.48638419_48638421del	VUS	1 lab	c11a354fc9
3:121973200 CASR C>T	3	121973200	121973200	C	T	CASR	c.164C>T	NM_001178065.1	NP_001171536.1:p.(Pro55Leu)	NC_000003.11:g.121973200C>T	(Likely) pathogenic	1 lab	c11acd50f9
X:152991559 BCAP31 C>T	X	152991559	152991559	C	T	BCAP31				NC_000023.10:g.152991559C>T	VUS	1 lab	c11b781f27
10:64382959 ZNF365 A>G	10	64382959	64382959	A	G	ZNF365	c.1078A>G	NM_199451.3	NP_955523.1:p.(Ser360Gly)	NC_000010.10:g.64382959A>G	(Likely) benign	1 lab	12b3b2249c
11:125479352 STT3A C>T	11	125479352	125479352	C	T	STT3A	c.985C>T	NM_001278503.1	NP_001265432.1:p.(Arg329Cys)	NC_000011.9:g.125479352C>T	(Likely) pathogenic	1 lab	c11dce18b5
8:102555565 GRHL2 C>A	8	102555565	102555565	C	A	GRHL2	c.117C>A	NM_024915.3	NP_079191.2:p.(Tyr39Ter)	NC_000008.10:g.102555565C>A	(Likely) pathogenic	1 lab	c11ed5b4ad
7:6045522 PMS2 C>T	7	6045522	6045522	C	T	PMS2	c.163+1G>A	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6045522C>T	(Likely) pathogenic	1 lab	c1241a78ce
17:41244982 BRCA1 AC>A	17	41244982	41244983	AC	A	BRCA1	c.2565del	NM_007294.4	NP_009225.1:p.(Gln855HisfsTer38)	NC_000017.10:g.41244983del	(Likely) pathogenic	1 lab	c124aee4d3
1:241676901 FH A>G	1	241676901	241676901	A	G	FH				NC_000001.10:g.241676901A>G	(Likely) pathogenic	1 lab	d05aa23f56
7:91724447 AKAP9 A>G	7	91724447	91724447	A	G	AKAP9	c.9689A>G	NM_005751.4	NP_005742.4:p.(Lys3230Arg)	NC_000007.13:g.91724447A>G	(Likely) benign	1 lab	c126cf1a6c
5:112173995 APC G>T	5	112173995	112173995	G	T	APC	c.2704G>T	NM_000038.5	NP_000029.2:p.(Glu902Ter)	NC_000005.9:g.112173995G>T	(Likely) pathogenic	1 lab	c126e3e697
15:44944060 SPG11 C>T	15	44944060	44944060	C	T	SPG11	c.1085G>A	NM_025137.3	NP_079413.3:p.(Trp362Ter)	NC_000015.9:g.44944060C>T	(Likely) pathogenic	1 lab	c128c1ef9c
19:39075676 RYR1 A>G	19	39075676	39075676	A	G	RYR1	c.14740A>G	NM_000540.2	NP_000531.2:p.(Arg4914Gly)	NC_000019.9:g.39075676A>G	(Likely) pathogenic	1 lab	c129ab0d35
2:47641557 MSH2 G>C	2	47641557	47641557	G	C	MSH2	c.942G>C	NM_000251.3	NP_000242.1:p.(Gln314His)	NC_000002.11:g.47641557G>C	(Likely) pathogenic	1 lab	c12a10d732
3:53684802 CACNA1D A>G	3	53684802	53684802	A	G	CACNA1D	c.484-4A>G	NM_000720.3	NP_000711.1:p.?	NC_000003.11:g.53684802A>G	(Likely) benign	1 lab	c12ca738d8
1:155582256 MSTO1 C>T	1	155582256	155582256	C	T	MSTO1	c.861C>T	NM_018116.4	NP_060586.2:p.(Leu287=)	NC_000001.10:g.155582256C>T	(Likely) benign	1 lab	12b8d1323b
1:7723682 CAMTA1 CCT>C	1	7723682	7723684	CCT	C	CAMTA1	c.1076_1077del	NM_015215.4	NP_056030.1:p.(Pro359ArgfsTer48)	NC_000001.10:g.7723683_7723684del	(Likely) pathogenic	1 lab	c12fe6347a
7:6026780 PMS2 G>A	7	6026780	6026780	G	A	PMS2	c.1616C>T	NM_000535.6	NP_000526.2:p.(Ala539Val)	NC_000007.13:g.6026780G>A	(Likely) benign	1 lab	c13178a662
2:216246992 FN1 C>T	2	216246992	216246992	C	T	FN1	c.5107G>A	NM_212482.4	NP_997647.2:p.(Val1703Ile)	NC_000002.11:g.216246992C>T	VUS	1 lab	c132574a0d
17:7125284 ACADVL C>T	17	7125284	7125284	C	T	ACADVL	c.636C>T	NM_000018.3	NP_000009.1:p.(Ala212=)	NC_000017.10:g.7125284C>T	(Likely) benign	1 lab	c13730c13f
18:29171919 TTR T>C	18	29171919	29171919	T	C	TTR	c.54T>C	NM_000371.4	NP_000362.1:p.(Ser18=)	NC_000018.9:g.29171919T>C	(Likely) benign	1 lab	c1373f2dfa
20:31390281 DNMT3B C>T	20	31390281	31390281	C	T	DNMT3B	c.2231+5C>T	NM_006892.4	NP_008823.1:p.?	NC_000020.10:g.31390281C>T	(Likely) benign	1 lab	0f3c987d68
1:201081299 CACNA1S C>G	1	201081299	201081299	C	G	CACNA1S	c.152+17G>C	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201081299C>G	(Likely) benign	1 lab	c13bffce9c
22:37471211 TMPRSS6 C>T	22	37471211	37471211	C	T	TMPRSS6	c.1333G>A	NM_153609.3	NP_705837.1:p.(Val445Met)	NC_000022.10:g.37471211C>T	VUS	1 lab	c146ec747e
19:10461519 TYK2 G>A	19	10461519	10461519	G	A	TYK2	c.3555C>T	NM_003331.5	NP_003322.3:p.(Ser1185=)	NC_000019.9:g.10461519G>A	(Likely) benign	1 lab	c1491033c2
4:126373672 FAT4 C>T	4	126373672	126373672	C	T	FAT4	c.11501C>T	NM_024582.4	NP_078858.4:p.(Pro3834Leu)	NC_000004.11:g.126373672C>T	VUS	1 lab	c149b709ed
X:49645131 USP27X C>T	X	49645131	49645131	C	T	USP27X	c.221C>T	NM_001145073.2	NP_001138545.1:p.(Thr74Met)	NC_000023.10:g.49645131C>T	VUS	1 lab	c14aa37df5
3:38592489 SCN5A C>T	3	38592489	38592489	C	T	SCN5A	c.5374G>A	NM_198056.2	NP_932173.1:p.(Asp1792Asn)	NC_000003.11:g.38592489C>T	VUS	1 lab	12b8f45af2
2:39250275 SOS1 A>T	2	39250275	39250275	A	T	SOS1	c.1294T>A	NM_005633.3	NP_005624.2:p.(Trp432Arg)	NC_000002.11:g.39250275A>T	(Likely) pathogenic	1 lab	c14e29c0d4
12:6058257 VWF G>C	12	6058257	6058257	G	C	VWF	c.8366C>G	NM_000552.3	NP_000543.2:p.(Thr2789Ser)	NC_000012.11:g.6058257G>C	VUS	1 lab	c14f4fdf92
2:228145207 COL4A3 G>C	2	228145207	228145207	G	C	COL4A3	c.2275G>C	NM_000091.4	NP_000082.2:p.(Gly759Arg)	NC_000002.11:g.228145207G>C	VUS	1 lab	c153efd68d
12:2788671 CACNA1C T>G	12	2788671	2788671	T	G	CACNA1C	c.5153T>G	NM_000719.6	NP_000710.5:p.(Phe1718Cys)	NC_000012.11:g.2788671T>G	VUS	1 lab	c1550f00d1
1:103348795 COL11A1 C>T	1	103348795	103348795	C	T	COL11A1	c.4931G>A	NM_001854.3	NP_001845.3:p.(Gly1644Asp)	NC_000001.10:g.103348795C>T	VUS	1 lab	c1578d38ec
2:228159258 COL4A3 GGGCCCTCCAGGAATCAGA>G	2	228159258	228159287	GGGCCCTCCAGGAATCAGA	G	COL4A3	c.3402_3418+1del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228159270_228159287del	(Likely) pathogenic	1 lab	c157e88f20
3:53218999 PRKCD G>A	3	53218999	53218999	G	A	PRKCD	c.888+9G>A	NM_006254.4	NP_006245.2:p.?	NC_000003.11:g.53218999G>A	(Likely) benign	1 lab	12bacb6902
19:16337353 AP1M1 C>T	19	16337353	16337353	C	T	AP1M1	c.704C>T	NM_001130524.1	NP_001123996.1:p.(Thr235Met)	NC_000019.9:g.16337353C>T	VUS	1 lab	c15bf38c9c
2:47690245 MSH2 T>G	2	47690245	47690245	T	G	MSH2	c.1462T>G	NM_000251.2	NP_000242.1:p.(Leu488Val)	NC_000002.11:g.47690245T>G	(Likely) benign	1 lab	c15e4d4e59
12:65150485 GNS C>T	12	65150485	65150485	C	T	GNS	c.192+2380G>A	NM_002076.4	NP_002067.1:p.?	NC_000012.11:g.65150485C>T	(Likely) benign	1 lab	0f3deb405c
4:56212532 SRD5A3 C>A	4	56212532	56212532	C	A	SRD5A3	c.29C>A	NM_024592.4	NP_078868.1:p.(Ser10Ter)	NC_000004.11:g.56212532C>A	(Likely) pathogenic	1 lab	c1603ef929
17:29587436 NF1 CAT>C	17	29587436	29587439	CAT	C	NF1	c.4482_4483del	NM_001042492.3	NP_001035957.1:p.(His1494GlnfsTer7)	NC_000017.10:g.29587438_29587439del	(Likely) pathogenic	1 lab	c163133dd2
4:3526786 LRPAP1 C>T	4	3526786	3526786	C	T	LRPAP1				NC_000004.11:g.3526786C>T	(Likely) benign	1 lab	c16434cde1
13:49047493 RB1 C>G	13	49047493	49047493	C	G	RB1	c.2490-3C>G	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49047493C>G	(Likely) pathogenic	1 lab	0f425a938d
9:139391962 NOTCH1 C>T	9	139391962	139391962	C	T	NOTCH1	c.6229G>A	NM_017617.5	NP_060087.3:p.(Ala2077Thr)	NC_000009.11:g.139391962C>T	VUS	1 lab	0f468a3989
11:35313985 SLC1A2 C>T	11	35313985	35313985	C	T	SLC1A2	c.940G>A	NM_004171.4	NP_004162.2:p.(Gly314Arg)	NC_000011.9:g.35313985C>T	VUS	1 lab	c16a3a9fd8
1:201330343 TNNT2 G>C	1	201330343	201330343	G	C	TNNT2	c.780+64C>G	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201330343G>C	(Likely) benign	1 lab	c16a7535ab
2:179578088 TTN G>A	2	179578088	179578088	G	A	TTN	c.26773C>T	NM_001267550.2	NP_001254479.2:p.(Pro8925Ser)	NC_000002.11:g.179578088G>A	VUS	1 lab	c16ad06c24
1:156563813 NAXE G>A	1	156563813	156563813	G	A	NAXE	c.804G>A	NM_144772.3	NP_658985.2:p.(Glu268=)	NC_000001.10:g.156563813G>A	(Likely) benign	1 lab	12c11efd2d
2:168100905 XIRP2 A>G	2	168100905	168100905	A	G	XIRP2	c.3003A>G	NM_152381.5	NP_689594.4:p.(Val1001=)	NC_000002.11:g.168100905A>G	(Likely) benign	1 lab	c16b855fc2
5:112177325 APC T>C	5	112177325	112177325	T	C	APC	c.6034T>C	NM_000038.6	NP_000029.2:p.(Phe2012Leu)	NC_000005.9:g.112177325T>C	VUS	1 lab	c1726722ff
8:11617142 GATA4 C>T	8	11617142	11617142	C	T	GATA4	c.*1158C>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11617142C>T	(Likely) benign	1 lab	c17295257c
2:149240780 MBD5 G>T	2	149240780	149240780	G	T	MBD5	c.2620G>T	NM_018328.4	NP_060798.2:p.(Ala874Ser)	NC_000002.11:g.149240780G>T	(Likely) benign	1 lab	c177825384
16:3779793 CREBBP T>C	16	3779793	3779793	T	C	CREBBP	c.5255A>G	NM_004380.2	NP_004371.2:p.(Glu1752Gly)	NC_000016.9:g.3779793T>C	VUS	1 lab	c177febe3c
17:7227193 NEURL4 C>T	17	7227193	7227193	C	T	NEURL4	c.2201G>A	NM_032442.3	NP_115818.2:p.(Arg734His)	NC_000017.10:g.7227193C>T	VUS	1 lab	1df1da8da5
5:88100415 MEF2C C>T	5	88100415	88100415	C	T	MEF2C	c.258G>A	NM_002397.5	NP_002388.2:p.(Glu86=)	NC_000005.9:g.88100415C>T	(Likely) pathogenic	1 lab	c179b73cd5
7:73474923 ELN A>C	7	73474923	73474923	A	C	ELN	c.1926A>C	NM_001278939.1	NP_001265868.1:p.(Ser642=)	NC_000007.13:g.73474923A>C	(Likely) benign	1 lab	c17af3cd3f
12:6132784 VWF C>T	12	6132784	6132784	C	T	VWF	c.3379+13G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6132784C>T	(Likely) benign	1 lab	d0be9e6d55
11:47463475 RAPSN T>C	11	47463475	47463475	T	C	RAPSN	c.691-2A>G	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47463475T>C	(Likely) pathogenic	1 lab	c17e64eb09
17:17929637 ATPAF2 T>C	17	17929637	17929637	T	C	ATPAF2	c.418A>G	NM_145691.3	NP_663729.1:p.(Ile140Val)	NC_000017.10:g.17929637T>C	(Likely) benign	1 lab	c17f8a0469
11:111910088 DLAT G>A	11	111910088	111910088	G	A	DLAT	c.1096G>A	NM_001931.5	NP_001922.2:p.(Val366Ile)	NC_000011.9:g.111910088G>A	VUS	1 lab	0f49a25179
8:143958575 CYP11B1 A>G	8	143958575	143958575	A	G	CYP11B1	c.459T>C	NM_000497.3	NP_000488.3:p.(Ala153=)	NC_000008.10:g.143958575A>G	(Likely) benign	1 lab	c1827cbe97
16:56906357 SLC12A3 G>C	16	56906357	56906357	G	C	SLC12A3	c.947G>C	NM_000339.2	NP_000330.2:p.(Gly316Ala)	NC_000016.9:g.56906357G>C	(Likely) pathogenic	1 lab	c182f2e5ca
17:7976980 ALOX12B CTGTGT>C	17	7976980	7976987	CTGTGT	C	ALOX12B	c.1745_1749del	NM_001139.2	NP_001130.1:p.(Asn582ArgfsTer24)	NC_000017.10:g.7976983_7976987del	(Likely) pathogenic	1 lab	c1841e004e
21:40636432 BRWD1 AT>A	21	40636432	40636436	AT	A	BRWD1	c.1838del	NM_033656.4	NP_387505.1:p.(Asn613IlefsTer7)	NC_000021.8:g.40636436del	VUS	1 lab	c1843317aa
6:32939603 BRD2 C>CT	6	32939603	32939604	C	CT	BRD2	c.-1072dup	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32939604dup	(Likely) benign	1 lab	12c2d740db
12:48387824 COL2A1 G>A	12	48387824	48387824	G	A	COL2A1	c.823C>T	NM_001844.4	NP_001835.3:p.(Arg275Cys)	NC_000012.11:g.48387824G>A	(Likely) pathogenic	1 lab	c186bc451a
7:100244260 ACTL6B C>T	7	100244260	100244260	C	T	ACTL6B	c.1027G>A	NM_016188.4	NP_057272.1:p.(Gly343Arg)	NC_000007.13:g.100244260C>T	VUS	1 lab	c187a9fdbc
17:45377825 ITGB3 T>C	17	45377825	45377825	T	C	ITGB3	c.1914-19T>C	NM_000212.3	NP_000203.2:p.?	NC_000017.10:g.45377825T>C	(Likely) benign	1 lab	c187b54c96
2:47698225 MSH2 G>A	2	47698225	47698225	G	A	MSH2	c.1759+24G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47698225G>A	(Likely) benign	1 lab	c18bc318c2
20:60864315 OSBPL2 T>C	20	60864315	60864315	T	C	OSBPL2	c.1178T>C	NM_144498.2	NP_653081.1:p.(Met393Thr)	NC_000020.10:g.60864315T>C	VUS	1 lab	c18f3f4c7d
4:187195344 F11 C>T	4	187195344	187195344	C	T	F11	c.400C>T	NM_000128.4	NP_000119.1:p.(Gln134Ter)	NC_000004.11:g.187195344C>T	(Likely) pathogenic	1 lab	c19059dc4a
10:12129711 DHTKD1 CT>GG	10	12129711	12129712	CT	GG	DHTKD1	c.700_701delinsGG	NM_018706.6	NP_061176.3:p.(Leu234Gly)	NC_000010.10:g.12129711_12129712delinsGG	(Likely) benign	1 lab	c191f56e31
6:32006090 CYP21A2 T>C	6	32006090	32006090	T	C	CYP21A2				NC_000006.11:g.32006090T>C	(Likely) pathogenic	1 lab	c19242294c
19:38946168 RYR1 C>T	19	38946168	38946168	C	T	RYR1	c.1654C>T	NM_000540.2	NP_000531.2:p.(Arg552Trp)	NC_000019.9:g.38946168C>T	(Likely) pathogenic	1 lab	c194615a0a
14:74947402 NPC2 T>TA	14	74947402	74947403	T	TA	NPC2				NC_000014.8:g.74947403dup	VUS	1 lab	c194e7315d
19:6720601 C3 G>GGT	19	6720601	6720604	G	GGT	C3	c.-3_-2dup	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6720603_6720604dup	(Likely) benign	1 lab	12c32d60d3
22:29091840 CHEK2 TG>CA	22	29091840	29091841	TG	CA	CHEK2	c.1116_1117inv	NM_007194.4	NP_009125.1:p.(Lys373Glu)	NC_000022.10:g.29091840_29091841inv	VUS	1 lab	c19743ef53
13:32929374 BRCA2 T>A	13	32929374	32929374	T	A	BRCA2	c.7384T>A	NM_000059.4	NP_000050.3:p.(Ser2462Thr)	NC_000013.10:g.32929374T>A	VUS	1 lab	c197ac2161
2:179612882 TTN A>T	2	179612882	179612882	A	T	TTN	c.11311+4969T>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612882A>T	VUS	1 lab	c19c52ebc9
12:49435969 KMT2D C>T	12	49435969	49435969	C	T	KMT2D	c.6012G>A	NM_003482.3	NP_003473.3:p.(Gln2004=)	NC_000012.11:g.49435969C>T	(Likely) benign	1 lab	12c52706da
3:121980436 CASR G>A	3	121980436	121980436	G	A	CASR	c.554G>A	NM_000388.3	NP_000379.2:p.(Arg185Gln)	NC_000003.11:g.121980436G>A	(Likely) pathogenic	1 lab	c1a0164006
11:48171536 PTPRJ A>G	11	48171536	48171536	A	G	PTPRJ	c.3042-6A>G	NM_002843.4	NP_002834.3:p.?	NC_000011.9:g.48171536A>G	(Likely) benign	1 lab	12c9548910
3:130674993 ATP2C1 C>T	3	130674993	130674993	C	T	ATP2C1	c.802C>T	NM_001378687.1	NP_001365616.1:p.(Gln268Ter)	NC_000003.11:g.130674993C>T	(Likely) pathogenic	1 lab	c1a4c72ff2
9:131394589 SPTAN1 C>G	9	131394589	131394589	C	G	SPTAN1	c.6946C>G	NM_001130438.2	NP_001123910.1:p.(Gln2316Glu)	NC_000009.11:g.131394589C>G	(Likely) pathogenic	1 lab	c1a6545067
14:86088862 FLRT2 G>A	14	86088862	86088862	G	A	FLRT2	c.1004G>A	NM_013231.4	NP_037363.1:p.(Arg335Gln)	NC_000014.8:g.86088862G>A	VUS	1 lab	c1a974fb68
5:147513458 SPINK5 C>T	5	147513458	147513458	C	T	SPINK5	c.3186+8C>T	NM_006846.3	NP_006837.2:p.?	NC_000005.9:g.147513458C>T	(Likely) benign	1 lab	12cab4fe6b
12:6134789 VWF C>T	12	6134789	6134789	C	T	VWF	c.3179G>A	NM_000552.3	NP_000543.2:p.(Cys1060Tyr)	NC_000012.11:g.6134789C>T	(Likely) pathogenic	1 lab	c1aa45de04
2:227872788 COL4A4 G>GA	2	227872788	227872789	G	GA	COL4A4	c.4754dup	NM_000092.4	NP_000083.3:p.(Cys1588MetfsTer46)	NC_000002.11:g.227872789dup	(Likely) pathogenic	1 lab	12cb37eee4
10:78761284 KCNMA1 C>T	10	78761284	78761284	C	T	KCNMA1	c.2147G>A	NM_001161352.1	NP_001154824.1:p.(Arg716His)	NC_000010.10:g.78761284C>T	VUS	1 lab	c1b49ebbdb
2:166166017 SCN2A G>A	2	166166017	166166017	G	A	SCN2A	c.697+64G>A	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166166017G>A	(Likely) benign	1 lab	12cdddda1c
7:128494909 FLNC G>A	7	128494909	128494909	G	A	FLNC	c.7078G>A	NM_001458.4	NP_001449.3:p.(Ala2360Thr)	NC_000007.13:g.128494909G>A	(Likely) benign	1 lab	c1b7209dd3
14:69349272 ACTN1 G>A	14	69349272	69349272	G	A	ACTN1	c.1856C>T	NM_001130004.1	NP_001123476.1:p.(Thr619Met)	NC_000014.8:g.69349272G>A	(Likely) benign	1 lab	12cde3c690
14:55510556 SOCS4 C>T	14	55510556	55510556	C	T	SOCS4	c.797C>T	NM_199421.1	NP_955453.1:p.(Thr266Met)	NC_000014.8:g.55510556C>T	VUS	1 lab	c1ba2fe5a8
3:12660166 RAF1 C>G	3	12660166	12660166	C	G	RAF1	c.55G>C	NM_002880.4	NP_002871.1:p.(Asp19His)	NC_000003.11:g.12660166C>G	VUS	1 lab	c1c0159fad
2:71162996 ATP6V1B1 A>G	2	71162996	71162996	A	G	ATP6V1B1				NC_000002.11:g.71162996A>G	(Likely) benign	1 lab	c1c384154d
14:23853738 MYH6 A>C	14	23853738	23853738	A	C	MYH6	c.5478T>G	NM_002471.3	NP_002462.2:p.(Gly1826=)	NC_000014.8:g.23853738A>C	(Likely) benign	1 lab	c1c3b135b9
3:71027030 FOXP1 C>A	3	71027030	71027030	C	A	FOXP1	c.1297G>T	NM_001244808.3	NP_001231737.1:p.(Gly433Ter)	NC_000003.11:g.71027030C>A	(Likely) pathogenic	1 lab	0f50f5dca8
7:143017755 CLCN1 A>C	7	143017755	143017755	A	C	CLCN1	c.302-2A>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143017755A>C	(Likely) pathogenic	1 lab	c1c560c93f
2:167262665 SCN7A T>C	2	167262665	167262665	T	C	SCN7A	c.4474A>G	NM_002976.4	NP_002967.2:p.(Ile1492Val)	NC_000002.11:g.167262665T>C	VUS	1 lab	c1c6e97116
19:45207482 CEACAM16 C>T	19	45207482	45207482	C	T	CEACAM16	c.577C>T	NM_001039213.3	NP_001034302.2:p.(Arg193Trp)	NC_000019.9:g.45207482C>T	(Likely) benign	1 lab	c1c8880d01
17:1639342 WDR81 C>T	17	1639342	1639342	C	T	WDR81	c.5335C>T	NM_001163809.1	NP_001157281.1:p.(Arg1779Ter)	NC_000017.10:g.1639342C>T	(Likely) pathogenic	1 lab	c1c8bcbb03
13:110830533 COL4A1 C>T	13	110830533	110830533	C	T	COL4A1	c.2504G>A	NM_001845.6	NP_001836.3:p.(Gly835Glu)	NC_000013.10:g.110830533C>T	(Likely) pathogenic	1 lab	c1c9a877c5
12:115115437 TBX3 T>G	12	115115437	115115437	T	G	TBX3	c.889A>C	NM_016569.3	NP_057653.3:p.(Asn297His)	NC_000012.11:g.115115437T>G	VUS	1 lab	c20d119f71
13:32937547 BRCA2 C>CAG	13	32937547	32937548	C	CAG	BRCA2	c.8208_8209insAG	NM_000059.3	NP_000050.2:p.(Leu2737SerfsTer2)	NC_000013.10:g.32937547_32937548insAG	(Likely) pathogenic	1 lab	c1cd7ce0fe
11:118377187 KMT2A G>C	11	118377187	118377187	G	C	KMT2A	c.10580G>C	NM_001197104.2	NP_001184033.1:p.(Arg3527Pro)	NC_000011.9:g.118377187G>C	(Likely) benign	1 lab	c1cdbb460f
13:32971106 BRCA2 G>A	13	32971106	32971106	G	A	BRCA2	c.9573G>A	NM_000059.3	NP_000050.2:p.(Trp3191Ter)	NC_000013.10:g.32971106G>A	(Likely) pathogenic	1 lab	c1cf92c769
15:41313178 INO80 C>T	15	41313178	41313178	C	T	INO80	c.3194G>A	NM_017553.3	NP_060023.1:p.(Arg1065Gln)	NC_000015.9:g.41313178C>T	(Likely) benign	1 lab	12cf1a64d7
16:89592811 SPG7 TG>T	16	89592811	89592812	TG	T	SPG7	c.694del	NM_003119.3	NP_003110.1:p.(Glu232SerfsTer2)	NC_000016.9:g.89592812del	(Likely) pathogenic	1 lab	c1d2cf09a1
12:110771952 ATP2A2 A>T	12	110771952	110771952	A	T	ATP2A2	c.1419+4A>T	NM_170665.4	NP_733765.1:p.?	NC_000012.11:g.110771952A>T	(Likely) pathogenic	1 lab	c1d4774a28
16:53262968 CHD9 C>T	16	53262968	53262968	C	T	CHD9	c.2242C>T	NM_001308319.2	NP_001295248.1:p.(Arg748Ter)	NC_000016.9:g.53262968C>T	(Likely) pathogenic	1 lab	c1d69f7ac1
1:160260425 COPA G>A	1	160260425	160260425	G	A	COPA	c.3472C>T	NM_004371.4	NP_004362.2:p.(Leu1158Phe)	NC_000001.10:g.160260425G>A	VUS	1 lab	0f516cf3e6
12:110238543 TRPV4 C>T	12	110238543	110238543	C	T	TRPV4	c.733G>A	NM_021625.5	NP_067638.3:p.(Ala245Thr)	NC_000012.11:g.110238543C>T	VUS	1 lab	c1d776c176
6:65300477 EYS A>T	6	65300477	65300477	A	T	EYS	c.5283T>A	NM_001142800.1	NP_001136272.1:p.(Tyr1761Ter)	NC_000006.11:g.65300477A>T	(Likely) pathogenic	1 lab	c1d93f6c73
8:87755825 CNGB3 C>T	8	87755825	87755825	C	T	CNGB3	c.31G>A	NM_019098.5	NP_061971.3:p.(Val11Met)	NC_000008.10:g.87755825C>T	VUS	1 lab	c1d9563eed
1:196694332 CFH T>A	1	196694332	196694332	T	A	CFH	c.1778T>A	NM_000186.3	NP_000177.2:p.(Leu593Ter)	NC_000001.10:g.196694332T>A	(Likely) pathogenic	1 lab	c1d9cf4ca1
2:179612174 TTN CT>C	2	179612174	179612175	CT	C	TTN	c.11312-5527del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612175del	(Likely) benign	1 lab	c1dc49162b
1:179523626 NPHS2 A>T	1	179523626	179523626	A	T	NPHS2	c.779T>A	NM_014625.2	NP_055440.1:p.(Val260Glu)	NC_000001.10:g.179523626A>T	(Likely) pathogenic	1 lab	c1dc74fd2b
11:71907112 FOLR1 A>G	11	71907112	71907112	A	G	FOLR1	c.665A>G	NM_016724.2	NP_057936.1:p.(Asn222Ser)	NC_000011.9:g.71907112A>G	(Likely) pathogenic	1 lab	c1dd08c85c
4:85598554 WDFY3 A>G	4	85598554	85598554	A	G	WDFY3	c.10260-5T>C	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85598554A>G	(Likely) benign	1 lab	0f556adcdd
6:65302987 EYS ATATCT>A	6	65302987	65302994	ATATCT	A	EYS	c.3877+18_3877+22del	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65302990_65302994del	(Likely) benign	1 lab	c1e134723d
14:51095005 ATL1 A>G	14	51095005	51095005	A	G	ATL1	c.1376A>G	NM_015915.4	NP_056999.2:p.(Tyr459Cys)	NC_000014.8:g.51095005A>G	(Likely) pathogenic	1 lab	c1e51fb5ff
2:166892943 SCN1A G>A	2	166892943	166892943	G	A	SCN1A	c.3044C>T	NM_001165963.1	NP_001159435.1:p.(Ala1015Val)	NC_000002.11:g.166892943G>A	VUS	1 lab	c1e791a3ec
22:41923388 ACO2 C>T	22	41923388	41923388	C	T	ACO2	c.2050C>T	NM_001098.2	NP_001089.1:p.(Arg684Trp)	NC_000022.10:g.41923388C>T	VUS	1 lab	c1e910e6f7
2:179459184 TTN A>G	2	179459184	179459184	A	G	TTN	c.58037T>C	NM_001267550.2	NP_001254479.2:p.(Val19346Ala)	NC_000002.11:g.179459184A>G	VUS	1 lab	c1e953894b
9:116044998 PRPF4 A>G	9	116044998	116044998	A	G	PRPF4	c.468A>G	NM_004697.4	NP_004688.2:p.(Lys156=)	NC_000009.11:g.116044998A>G	(Likely) benign	1 lab	c1ea92df79
11:47364600 MYBPC3 C>G	11	47364600	47364600	C	G	MYBPC3	c.1323G>C	NM_000256.3	NP_000247.2:p.(Glu441Asp)	NC_000011.9:g.47364600C>G	VUS	1 lab	c1eb4d5501
5:37057358 NIPBL A>C	5	37057358	37057358	A	C	NIPBL	c.7334A>C	NM_133433.3	NP_597677.2:p.(Glu2445Ala)	NC_000005.9:g.37057358A>C	(Likely) pathogenic	1 lab	c1edb91bc8
2:44503060 SLC3A1 G>C	2	44503060	44503060	G	C	SLC3A1	c.386G>C	NM_000341.4	NP_000332.2:p.(Arg129Thr)	NC_000002.11:g.44503060G>C	VUS	1 lab	c1f3a62e67
X:153599246 FLNA G>A	X	153599246	153599246	G	A	FLNA	c.368C>T	NM_001110556.2	NP_001104026.1:p.(Ser123Phe)	NC_000023.10:g.153599246G>A	(Likely) pathogenic	1 lab	c1f50a98c8
2:73677833 MISSING A>G	2	73677833	73677833	A	G	MISSING				NC_000002.11:g.73677833A>G	(Likely) benign	1 lab	c1fa575082
1:44468544 SLC6A9 C>T	1	44468544	44468544	C	T	SLC6A9	c.704G>A	NM_001024845.3	NP_001020016.1:p.(Gly235Glu)	NC_000001.10:g.44468544C>T	(Likely) pathogenic	1 lab	c1fce38ad9
10:28872382 WAC C>A	10	28872382	28872382	C	A	WAC				NC_000010.10:g.28872382C>A	(Likely) pathogenic	1 lab	c2025ace62
5:1878723 IRX4 G>C	5	1878723	1878723	G	C	IRX4	c.998C>G	NM_001278635.1	NP_001265564.1:p.(Ser333Cys)	NC_000005.9:g.1878723G>C	(Likely) benign	1 lab	c20293b554
3:195794488 TFRC G>A	3	195794488	195794488	G	A	TFRC	c.941C>T	NM_003234.3	NP_003225.2:p.(Pro314Leu)	NC_000003.11:g.195794488G>A	VUS	1 lab	c2029da10d
6:66053960 EYS A>G	6	66053960	66053960	A	G	EYS	c.1570T>C	NM_001142800.2	NP_001136272.1:p.(Cys524Arg)	NC_000006.11:g.66053960A>G	VUS	1 lab	c209009c20
2:223917884 KCNE4 G>T	2	223917884	223917884	G	T	KCNE4	c.489G>T	NM_080671.3	NP_542402.3:p.(Ala163=)	NC_000002.11:g.223917884G>T	(Likely) benign	1 lab	c20b94b0c9
13:20763170 GJB2 C>G	13	20763170	20763170	C	G	GJB2	c.551G>C	NM_004004.5	NP_003995.2:p.(Arg184Pro)	NC_000013.10:g.20763170C>G	(Likely) pathogenic	1 lab	c20dd14006
1:228525635 OBSCN C>A	1	228525635	228525635	C	A	OBSCN	c.19672-10C>A	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228525635C>A	(Likely) benign	1 lab	c20e5e2160
19:18979573 GDF1 C>T	19	18979573	18979573	C	T	GDF1	c.952G>A	NM_001492.5	NP_001483.3:p.(Ala318Thr)	NC_000019.9:g.18979573C>T	(Likely) pathogenic	1 lab	c2144327b0
10:8106036 GATA3 G>A	10	8106036	8106036	G	A	GATA3	c.859G>A	NM_001002295.1	NP_001002295.1:p.(Ala287Thr)	NC_000010.10:g.8106036G>A	(Likely) pathogenic	1 lab	c2148fe0fb
16:2158768 PKD1 CGAA>C	16	2158768	2158775	CGAA	C	PKD1	c.6397_6399del	NM_001009944.3	NP_001009944.3:p.(Phe2133del)	NC_000016.9:g.2158773_2158775del	(Likely) pathogenic	1 lab	c219683532
13:110813613 COL4A1 C>A	13	110813613	110813613	C	A	COL4A1	c.4566G>T	NM_001845.6	NP_001836.3:p.(Trp1522Cys)	NC_000013.10:g.110813613C>A	(Likely) pathogenic	1 lab	c21db4cf74
2:179435327 TTN C>T	2	179435327	179435327	C	T	TTN	c.75532G>A	NM_001267550.1	NP_001254479.1:p.(Asp25178Asn)	NC_000002.11:g.179435327C>T	VUS	1 lab	12e0dc0335
2:48033790 MSH6 G>C	2	48033790	48033790	G	C	MSH6	c.4001G>C	NM_000179.3	NP_000170.1:p.(Arg1334Pro)	NC_000002.11:g.48033790G>C	(Likely) pathogenic	1 lab	c21ef5e2de
22:29121089 CHEK2 G>A	22	29121089	29121089	G	A	CHEK2	c.468C>T	NM_007194.3	NP_009125.1:p.(Tyr156=)	NC_000022.10:g.29121089G>A	(Likely) benign	1 lab	c221e5b059
2:227895125 COL4A4 A>G	2	227895125	227895125	A	G	COL4A4	c.3973+34T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227895125A>G	(Likely) benign	1 lab	c2223702c4
2:26415267 HADHA T>C	2	26415267	26415267	T	C	HADHA	c.1912A>G	NM_000182.4	NP_000173.2:p.(Ile638Val)	NC_000002.11:g.26415267T>C	(Likely) benign	1 lab	c223210939
3:150659443 CLRN1 A>T	3	150659443	150659443	A	T	CLRN1	c.359T>A	NM_174878.2	NP_777367.1:p.(Met120Lys)	NC_000003.11:g.150659443A>T	(Likely) pathogenic	1 lab	c224b2e6c3
2:50574008 NRXN1 GCGCCGCCGC>G	2	50574008	50574039	GCGCCGCCGC	G	NRXN1	c.71_79del	NM_138735.5	NP_620072.1:p.(Gly24_Gly26del)	NC_000002.11:g.50574031_50574039del	(Likely) benign	1 lab	0f59302225
16:2142144 PKD1 GC>G	16	2142144	2142146	GC	G	PKD1	c.11314del	NM_001009944.2	NP_001009944.2:p.(Ala3772ProfsTer54)	NC_000016.9:g.2142146del	(Likely) pathogenic	1 lab	c22906f964
11:86666010 FZD4 C>G	11	86666010	86666010	C	G	FZD4	c.118G>C	NM_012193.3	NP_036325.2:p.(Glu40Gln)	NC_000011.9:g.86666010C>G	VUS	1 lab	c2295815ed
18:50432563 DCC C>T	18	50432563	50432563	C	T	DCC	c.562C>T	NM_005215.4	NP_005206.2:p.(Arg188Ter)	NC_000018.9:g.50432563C>T	(Likely) pathogenic	1 lab	c22aadb8e2
19:39070680 RYR1 T>C	19	39070680	39070680	T	C	RYR1	c.14423T>C	NM_000540.2	NP_000531.2:p.(Phe4808Ser)	NC_000019.9:g.39070680T>C	VUS	1 lab	c22b2be42c
13:32905086 BRCA2 G>T	13	32905086	32905086	G	T	BRCA2	c.712G>T	NM_000059.3	NP_000050.2:p.(Glu238Ter)	NC_000013.10:g.32905086G>T	(Likely) pathogenic	1 lab	c22b600e73
20:61981536 CHRNA4 A>G	20	61981536	61981536	A	G	CHRNA4	c.1227T>C	NM_000744.7	NP_000735.1:p.(Cys409=)	NC_000020.10:g.61981536A>G	(Likely) benign	1 lab	0f5d0581e2
3:193361785 OPA1 G>A	3	193361785	193361785	G	A	OPA1	c.1499G>A	NM_130837.2	NP_570850.2:p.(Arg500His)	NC_000003.11:g.193361785G>A	(Likely) pathogenic	1 lab	c22d1cbefc
1:150772058 CTSK A>G	1	150772058	150772058	A	G	CTSK	c.746T>C	NM_000396.4	NP_000387.1:p.(Ile249Thr)	NC_000001.10:g.150772058A>G	(Likely) pathogenic	1 lab	c22d996b56
18:19763011 GATA6 A>G	18	19763011	19763011	A	G	GATA6	c.1620+7A>G	NM_005257.5	NP_005248.2:p.?	NC_000018.9:g.19763011A>G	(Likely) benign	1 lab	c22ec6962b
2:227872782 COL4A4 T>TG	2	227872782	227872788	T	TG	COL4A4	c.4760dup	NM_000092.5	NP_000083.3:p.(Cys1588MetfsTer46)	NC_000002.11:g.227872788dup	(Likely) pathogenic	1 lab	c22feb0385
8:61774881 CHD7 C>T	8	61774881	61774881	C	T	CHD7				NC_000008.10:g.61774881C>T	(Likely) pathogenic	1 lab	c23093ddef
1:209969870 IRF6 G>A	1	209969870	209969870	G	A	IRF6	c.202C>T	NM_006147.4	NP_006138.1:p.(Gln68Ter)	NC_000001.10:g.209969870G>A	(Likely) pathogenic	1 lab	0f6032de1a
18:55335709 ATP8B1 G>A	18	55335709	55335709	G	A	ATP8B1	c.2161C>T	NM_005603.4	NP_005594.1:p.(Leu721Phe)	NC_000018.9:g.55335709G>A	VUS	1 lab	c2346467fa
11:76893479 MYO7A C>T	11	76893479	76893479	C	T	MYO7A	c.3119C>T	NM_000260.3	NP_000251.3:p.(Ala1040Val)	NC_000011.9:g.76893479C>T	VUS	1 lab	c2369936eb
2:179457570 TTN G>A	2	179457570	179457570	G	A	TTN	c.59276C>T	NM_001267550.2	NP_001254479.2:p.(Ala19759Val)	NC_000002.11:g.179457570G>A	VUS	1 lab	c238c5d97a
5:127640746 FBN2 G>T	5	127640746	127640746	G	T	FBN2	c.5703C>A	NM_001999.3	NP_001990.2:p.(Asn1901Lys)	NC_000005.9:g.127640746G>T	VUS	1 lab	c238e60c04
14:23897996 MYH7 G>A	14	23897996	23897996	G	A	MYH7	c.1408-117C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23897996G>A	(Likely) benign	1 lab	c239666c78
2:169825964 ABCB11 T>C	2	169825964	169825964	T	C	ABCB11	c.1907A>G	NM_003742.2	NP_003733.2:p.(Glu636Gly)	NC_000002.11:g.169825964T>C	(Likely) pathogenic	1 lab	c23db6af8b
14:53619500 DDHD1 C>G	14	53619500	53619500	C	G	DDHD1	c.317G>C	NM_001160148.1	NP_001153620.1:p.(Gly106Ala)	NC_000014.8:g.53619500C>G	(Likely) benign	1 lab	c23f68aa2c
19:42492147 ATP1A3 G>C	19	42492147	42492147	G	C	ATP1A3	c.298C>G	NM_152296.4	NP_689509.1:p.(Leu100Val)	NC_000019.9:g.42492147G>C	(Likely) pathogenic	1 lab	c241555224
8:87641309 CNGB3 A>C	8	87641309	87641309	A	C	CNGB3	c.1321-3T>G	NM_019098.4	NP_061971.3:p.?	NC_000008.10:g.87641309A>C	VUS	1 lab	c5c04b65ab
3:130673857 ATP2C1 G>A	3	130673857	130673857	G	A	ATP2C1	c.689G>A	NM_014382.5	NP_055197.2:p.(Gly230Asp)	NC_000003.11:g.130673857G>A	(Likely) pathogenic	1 lab	0f61231464
2:228119461 COL4A3 G>A	2	228119461	228119461	G	A	COL4A3	c.888+30G>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228119461G>A	(Likely) benign	1 lab	c2435d2490
7:83610728 SEMA3A C>T	7	83610728	83610728	C	T	SEMA3A				NC_000007.13:g.83610728C>T	VUS	1 lab	c246db8913
17:29703374 NF1 G>A	17	29703374	29703374	G	A	NF1	c.*2201G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29703374G>A	(Likely) benign	1 lab	c2478e3155
6:64430518 EYS C>T	6	64430518	64430518	C	T	EYS	c.9409G>A	NM_001142800.2	NP_001136272.1:p.(Gly3137Arg)	NC_000006.11:g.64430518C>T	VUS	1 lab	c24a9160bc
X:135081071 SLC9A6 A>G	X	135081071	135081071	A	G	SLC9A6	c.737A>G	NM_001042537.1	NP_001036002.1:p.(Asp246Gly)	NC_000023.10:g.135081071A>G	VUS	1 lab	c24f7fca90
X:100603520 BTK C>T	X	100603520	100603520	C	T	BTK				NC_000023.10:g.100603520C>T	(Likely) pathogenic	1 lab	c24ff5046c
11:2869140 KCNQ1 C>T	11	2869140	2869140	C	T	KCNQ1	c.1938C>T	NM_000218.2	NP_000209.2:p.(Gly646=)	NC_000011.9:g.2869140C>T	(Likely) benign	1 lab	c251797f23
X:107816849 COL4A5 G>T	X	107816849	107816849	G	T	COL4A5	c.511G>T	NM_033380.2	NP_203699.1:p.(Gly171Cys)	NC_000023.10:g.107816849G>T	(Likely) pathogenic	1 lab	c251b07c67
5:112173278 APC C>T	5	112173278	112173278	C	T	APC	c.1987C>T	NM_000038.5	NP_000029.2:p.(Gln663Ter)	NC_000005.9:g.112173278C>T	(Likely) pathogenic	1 lab	c2522615f6
6:72892017 RIMS1 T>A	6	72892017	72892017	T	A	RIMS1	c.843T>A	NM_014989.7	NP_055804.2:p.(Asn281Lys)	NC_000006.11:g.72892017T>A	VUS	1 lab	c252adb23d
5:112175350 APC AT>A	5	112175350	112175354	AT	A	APC	c.4063del	NM_000038.6	NP_000029.2:p.(Ser1355LeufsTer60)	NC_000005.9:g.112175354del	(Likely) pathogenic	1 lab	c2538e076f
3:178916935 PIK3CA C>T	3	178916935	178916935	C	T	PIK3CA	c.322C>T	NM_006218.4	NP_006209.2:p.(Arg108Cys)	NC_000003.11:g.178916935C>T	VUS	1 lab	c2548cea4e
2:145147493 ZEB2 C>T	2	145147493	145147493	C	T	ZEB2	c.3170G>A	NM_014795.3	NP_055610.1:p.(Cys1057Tyr)	NC_000002.11:g.145147493C>T	(Likely) pathogenic	1 lab	c2569a4c4e
2:211471478 CPS1 GC>G	2	211471478	211471481	GC	G	CPS1	c.2008del	NM_001875.5	NP_001866.2:p.(Gln670ArgfsTer11)	NC_000002.11:g.211471481del	(Likely) pathogenic	1 lab	0f61f43f84
1:3319370 PRDM16 G>A	1	3319370	3319370	G	A	PRDM16	c.692G>A	NM_022114.3	NP_071397.3:p.(Arg231His)	NC_000001.10:g.3319370G>A	VUS	1 lab	c258e3efba
22:29091726 CHEK2 A>T	22	29091726	29091726	A	T	CHEK2	c.1231T>A	NM_007194.4	NP_009125.1:p.(Trp411Arg)	NC_000022.10:g.29091726A>T	VUS	1 lab	0f665dcb83
2:227873028 COL4A4 A>G	2	227873028	227873028	A	G	COL4A4	c.4523-8T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227873028A>G	(Likely) benign	1 lab	c25985e5b9
20:33588149 MYH7B C>CA	20	33588149	33588150	C	CA	MYH7B	c.4836dup	NM_020884.7	NP_065935.4:p.(Arg1613ThrfsTer5)	NC_000020.10:g.33588150dup	VUS	1 lab	c25f356460
15:48789565 FBN1 G>C	15	48789565	48789565	G	C	FBN1	c.2191C>G	NM_000138.5	NP_000129.3:p.(Pro731Ala)	NC_000015.9:g.48789565G>C	VUS	1 lab	c262e07715
4:187130127 CYP4V2 G>A	4	187130127	187130127	G	A	CYP4V2	c.1199G>A	NM_207352.4	NP_997235.3:p.(Arg400His)	NC_000004.11:g.187130127G>A	(Likely) pathogenic	1 lab	c263913252
1:196658736 CFH C>T	1	196658736	196658736	C	T	CFH	c.1151C>T	NM_000186.4	NP_000177.2:p.(Pro384Leu)	NC_000001.10:g.196658736C>T	VUS	1 lab	c26394f365
16:68853296 CDH1 C>G	16	68853296	68853296	C	G	CDH1	c.1679C>G	NM_004360.3	NP_004351.1:p.(Thr560Arg)	NC_000016.9:g.68853296C>G	(Likely) pathogenic	1 lab	c2664a2554
12:49438753 KMT2D A>C	12	49438753	49438753	A	C	KMT2D	c.4742-5T>G	NM_003482.3	NP_003473.3:p.?	NC_000012.11:g.49438753A>C	(Likely) pathogenic	1 lab	c266fb1167
22:38370122 SOX10 G>T	22	38370122	38370122	G	T	SOX10	c.781C>A	NM_006941.3	NP_008872.1:p.(Arg261Ser)	NC_000022.10:g.38370122G>T	VUS	1 lab	c2690d77ef
19:10904508 DNM2 C>T	19	10904508	10904508	C	T	DNM2	c.1105C>T	NM_001005360.2	NP_001005360.1:p.(Arg369Trp)	NC_000019.9:g.10904508C>T	(Likely) pathogenic	1 lab	c26c7e8128
6:32797234 TAP2 C>T	6	32797234	32797234	C	T	TAP2	c.1875G>A	NM_000544.3	NP_000535.3:p.(Pro625=)	NC_000006.11:g.32797234C>T	(Likely) benign	1 lab	12eb503140
2:179427657 TTN A>G	2	179427657	179427657	A	G	TTN	c.83202T>C	NM_001267550.2	NP_001254479.2:p.(Asp27734=)	NC_000002.11:g.179427657A>G	(Likely) benign	1 lab	c278c1dd43
1:61849013 NFIA C>T	1	61849013	61849013	C	T	NFIA	c.1186C>T	NM_001145512.1	NP_001138984.1:p.(Arg396Ter)	NC_000001.10:g.61849013C>T	VUS	1 lab	c27ad53e8d
11:31823309 PAX6 C>T	11	31823309	31823309	C	T	PAX6	c.157G>A	NM_000280.4	NP_000271.1:p.(Val53Met)	NC_000011.9:g.31823309C>T	(Likely) pathogenic	1 lab	c27adfaf67
1:94463425 ABCA4 G>C	1	94463425	94463425	G	C	ABCA4	c.6721C>G	NM_000350.2	NP_000341.2:p.(Leu2241Val)	NC_000001.10:g.94463425G>C	VUS	1 lab	c27b68239d
11:119169221 CBL G>C	11	119169221	119169221	G	C	CBL				NC_000011.9:g.119169221G>C	VUS	1 lab	c7530cc5b8
18:21116835 NPC1 T>C	18	21116835	21116835	T	C	NPC1	c.3047A>G	NM_000271.5	NP_000262.2:p.(His1016Arg)	NC_000018.9:g.21116835T>C	VUS	1 lab	c27e5acd2d
22:41536193 EP300 C>G	22	41536193	41536193	C	G	EP300	c.1810C>G	NM_001429.4	NP_001420.2:p.(Arg604Gly)	NC_000022.10:g.41536193C>G	(Likely) pathogenic	1 lab	c28113e50e
6:45390433 RUNX2 G>GCAGCAGCAGCAA	6	45390433	45390456	G	GCAGCAGCAGCAA	RUNX2	c.174_185dup	NM_001024630.4	NP_001019801.3:p.(Gln68_Gln71dup)	NC_000006.11:g.45390445_45390456dup	(Likely) benign	1 lab	0f6998bd69
9:101984154 ALG2 TC>T	9	101984154	101984157	TC	T	ALG2	c.22del	NM_033087.4	NP_149078.1:p.(Glu8AsnfsTer40)	NC_000009.11:g.101984157del	(Likely) pathogenic	1 lab	0f69b611f6
6:51914956 PKHD1 G>A	6	51914956	51914956	G	A	PKHD1	c.2278C>T	NM_138694.4	NP_619639.3:p.(Arg760Cys)	NC_000006.11:g.51914956G>A	(Likely) benign	1 lab	0f6a22241a
16:23640969 PALB2 C>G	16	23640969	23640969	C	G	PALB2	c.2506G>C	NM_024675.3	NP_078951.2:p.(Val836Leu)	NC_000016.9:g.23640969C>G	VUS	1 lab	c28db9e85d
1:173878986 SERPINC1 T>G	1	173878986	173878986	T	G	SERPINC1	c.857A>C	NM_000488.4	NP_000479.1:p.(Gln286Pro)	NC_000001.10:g.173878986T>G	(Likely) pathogenic	1 lab	0f6b20d9da
19:36339583 NPHS1 G>C	19	36339583	36339583	G	C	NPHS1	c.1126C>G	NM_004646.3	NP_004637.1:p.(Leu376Val)	NC_000019.9:g.36339583G>C	(Likely) benign	1 lab	12ed737ac9
8:11616410 GATA4 C>T	8	11616410	11616410	C	T	GATA4	c.*426C>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616410C>T	(Likely) benign	1 lab	c2911b042d
5:112175291 APC TCC>T	5	112175291	112175293	TCC	T	APC	c.4001_4002del	NM_000038.6	NP_000029.2:p.(Ser1334Ter)	NC_000005.9:g.112175292_112175293del	(Likely) pathogenic	1 lab	c293a2d165
22:51159866 SHANK3 C>T	22	51159866	51159866	C	T	SHANK3	c.3830C>T	NM_001372044.2	NP_001358973.1:p.(Ser1277Phe)	NC_000022.10:g.51159866C>T	VUS	1 lab	0f734f279f
4:57344738 SRP72 C>T	4	57344738	57344738	C	T	SRP72	c.768-20C>T	NM_006947.4	NP_008878.3:p.?	NC_000004.11:g.57344738C>T	(Likely) benign	1 lab	12ef73dc0f
16:2160789 PKD1 A>C	16	2160789	2160789	A	C	PKD1	c.4379T>G	NM_000296.3	NP_000287.3:p.(Val1460Gly)	NC_000016.9:g.2160789A>C	VUS	1 lab	c2a100334c
11:47365214 MYBPC3 G>A	11	47365214	47365214	G	A	MYBPC3	c.1091-39C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365214G>A	(Likely) benign	1 lab	c2a2eec16f
17:18052267 MYO15A G>A	17	18052267	18052267	G	A	MYO15A				NC_000017.10:g.18052267G>A	(Likely) pathogenic	1 lab	c2a4ebd11a
8:61735262 CHD7 G>A	8	61735262	61735262	G	A	CHD7				NC_000008.10:g.61735262G>A	VUS	1 lab	c2a6460449
17:4918036 KIF1C A>G	17	4918036	4918036	A	G	KIF1C	c.1572-2A>G	NM_006612.5	NP_006603.2:p.?	NC_000017.10:g.4918036A>G	(Likely) pathogenic	1 lab	c2a7755566
13:32913428 BRCA2 G>C	13	32913428	32913428	G	C	BRCA2	c.4936G>C	NM_000059.3	NP_000050.2:p.(Glu1646Gln)	NC_000013.10:g.32913428G>C	(Likely) benign	1 lab	c2adb6f57f
19:52722957 PPP2R1A G>A	19	52722957	52722957	G	A	PPP2R1A	c.1142G>A	NM_014225.5	NP_055040.2:p.(Arg381Gln)	NC_000019.9:g.52722957G>A	VUS	1 lab	c2d56a60e2
1:220364621 RAB3GAP2 G>A	1	220364621	220364621	G	A	RAB3GAP2	c.1276C>T	NM_012414.4	NP_036546.2:p.(Arg426Cys)	NC_000001.10:g.220364621G>A	(Likely) pathogenic	1 lab	c2b40d2151
2:25462005 DNMT3A A>G	2	25462005	25462005	A	G	DNMT3A				NC_000002.11:g.25462005A>G	(Likely) pathogenic	1 lab	c2b43032cb
2:73646360 MISSING TC>T	2	73646360	73646364	TC	T	MISSING				NC_000002.11:g.73646364del	(Likely) pathogenic	1 lab	c2b48f621b
2:233410295 CHRNG G>A	2	233410295	233410295	G	A	CHRNG	c.1423G>A	NM_005199.5	NP_005190.4:p.(Val475Ile)	NC_000002.11:g.233410295G>A	VUS	1 lab	c2bb3bd620
2:47635572 MSH2 A>T	2	47635572	47635572	A	T	MSH2	c.244A>T	NM_000251.3	NP_000242.1:p.(Lys82Ter)	NC_000002.11:g.47635572A>T	(Likely) pathogenic	1 lab	c2bb67ff14
3:48626239 COL7A1 C>T	3	48626239	48626239	C	T	COL7A1				NC_000003.11:g.48626239C>T	(Likely) benign	1 lab	c2bf43d5e4
13:78477406 EDNRB G>A	13	78477406	78477406	G	A	EDNRB	c.956C>T	NM_001201397.1	NP_001188326.1:p.(Ser319Phe)	NC_000013.10:g.78477406G>A	VUS	1 lab	c2c21ad70f
18:29078232 DSG2 A>T	18	29078232	29078232	A	T	DSG2	c.18A>T	NM_001943.3	NP_001934.2:p.(Gly6=)	NC_000018.9:g.29078232A>T	(Likely) benign	1 lab	c2c7c27870
22:29091779 CHEK2 G>A	22	29091779	29091779	G	A	CHEK2	c.1178C>T	NM_007194.3	NP_009125.1:p.(Pro393Leu)	NC_000022.10:g.29091779G>A	VUS	1 lab	c2c8d96c00
12:116420425 MED13L T>C	12	116420425	116420425	T	C	MED13L				NC_000012.11:g.116420425T>C	(Likely) pathogenic	1 lab	c2cdb54ad6
19:10468663 TYK2 C>G	19	10468663	10468663	C	G	TYK2	c.2311+16G>C	NM_003331.4	NP_003322.3:p.?	NC_000019.9:g.10468663C>G	(Likely) benign	1 lab	12f083deca
1:3321351 PRDM16 C>T	1	3321351	3321351	C	T	PRDM16	c.933C>T	NM_022114.3	NP_071397.3:p.(Cys311=)	NC_000001.10:g.3321351C>T	(Likely) benign	1 lab	c2cf898903
16:50744970 NOD2 A>G	16	50744970	50744970	A	G	NOD2	c.1148A>G	NM_022162.3	NP_071445.1:p.(Glu383Gly)	NC_000016.9:g.50744970A>G	(Likely) pathogenic	1 lab	c2d2830452
10:64957171 JMJD1C C>G	10	64957171	64957171	C	G	JMJD1C	c.5644G>C	NM_032776.3	NP_116165.1:p.(Asp1882His)	NC_000010.10:g.64957171C>G	VUS	1 lab	c2d6fd0a2f
12:110226229 TRPV4 C>G	12	110226229	110226229	C	G	TRPV4	c.2184G>C	NM_021625.4	NP_067638.3:p.(Glu728Asp)	NC_000012.11:g.110226229C>G	VUS	1 lab	c2d8fda535
1:215820948 USH2A T>C	1	215820948	215820948	T	C	USH2A	c.14707A>G	NM_206933.2	NP_996816.2:p.(Thr4903Ala)	NC_000001.10:g.215820948T>C	VUS	1 lab	c2d934ae49
11:1471899 BRSK2 C>CTG	11	1471899	1471901	C	CTG	BRSK2	c.1371_1372dup	NM_001256627.1	NP_001243556.1:p.(Gly458ValfsTer52)	NC_000011.9:g.1471900_1471901dup	(Likely) pathogenic	1 lab	c2da35a1d7
3:150690439 CLRN1 T>A	3	150690439	150690439	T	A	CLRN1	c.57A>T	NM_174878.2	NP_777367.1:p.(Ala19=)	NC_000003.11:g.150690439T>A	(Likely) benign	1 lab	c2dbecea8c
X:41043944 USP9X T>C	X	41043944	41043944	T	C	USP9X	c.3558+16T>C	NM_001039590.2	NP_001034679.2:p.?	NC_000023.10:g.41043944T>C	(Likely) benign	1 lab	c2def92124
7:151329207 PRKAG2 G>A	7	151329207	151329207	G	A	PRKAG2	c.702C>T	NM_016203.3	NP_057287.2:p.(Ala234=)	NC_000007.13:g.151329207G>A	(Likely) benign	1 lab	c2e180c349
12:6121125 VWF C>A	12	6121125	6121125	C	A	VWF	c.5664+128G>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121125C>A	(Likely) benign	1 lab	c2e322c5df
3:58107068 FLNB C>A	3	58107068	58107068	C	A	FLNB	c.2964C>A	NM_001457.4	NP_001448.2:p.(Val988=)	NC_000003.11:g.58107068C>A	VUS	1 lab	c2e531d82e
10:99359739 HOGA1 T>C	10	99359739	99359739	T	C	HOGA1	c.604-85T>C	NM_138413.3	NP_612422.2:p.?	NC_000010.10:g.99359739T>C	(Likely) benign	1 lab	c2e5e744dd
1:11851297 MTHFR G>A	1	11851297	11851297	G	A	MTHFR	c.1719C>T	NM_005957.4	NP_005948.3:p.(Thr573=)	NC_000001.10:g.11851297G>A	(Likely) benign	1 lab	c2ec6eeff2
1:155870244 RIT1 G>A	1	155870244	155870244	G	A	RIT1	c.646C>T	NM_001256821.1	NP_001243750.1:p.(Pro216Ser)	NC_000001.10:g.155870244G>A	(Likely) benign	1 lab	c2eda71ad9
9:104375749 GRIN3A C>T	9	104375749	104375749	C	T	GRIN3A	c.2675G>A	NM_133445.2	NP_597702.2:p.(Ser892Asn)	NC_000009.11:g.104375749C>T	VUS	1 lab	c2f08bd57b
17:38457151 CDC6 G>A	17	38457151	38457151	G	A	CDC6	c.1321G>A	NM_001254.3	NP_001245.1:p.(Val441Ile)	NC_000017.10:g.38457151G>A	(Likely) benign	1 lab	c2f5373681
6:86243318 SNX14 T>C	6	86243318	86243318	T	C	SNX14				NC_000006.11:g.86243318T>C	VUS	1 lab	c2fa283534
2:113496401 NT5DC4 T>G	2	113496401	113496401	T	G	NT5DC4	c.1345-89T>G	NM_001393655.1	NP_001380584.1:p.?	NC_000002.11:g.113496401T>G	VUS	1 lab	c2fadd09d8
8:38314873 FGFR1 C>T	8	38314873	38314873	C	T	FGFR1	c.91+1G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38314873C>T	(Likely) pathogenic	1 lab	c2fc5de4b0
2:228564122 SLC19A3 C>T	2	228564122	228564122	C	T	SLC19A3	c.309G>A	NM_025243.4	NP_079519.1:p.(Val103=)	NC_000002.11:g.228564122C>T	(Likely) benign	1 lab	0f84f0da9a
1:158584105 SPTA1 A>G	1	158584105	158584105	A	G	SPTA1	c.6789-9T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158584105A>G	(Likely) benign	1 lab	12f1c596ba
18:31323688 ASXL3 C>A	18	31323688	31323688	C	A	ASXL3	c.3876C>A	NM_030632.1	NP_085135.1:p.(Cys1292Ter)	NC_000018.9:g.31323688C>A	(Likely) pathogenic	1 lab	c300ebc851
2:5833410 SOX11 C>T	2	5833410	5833410	C	T	SOX11				NC_000002.11:g.5833410C>T	VUS	1 lab	c301b46b7f
2:189915320 COL5A2 C>G	2	189915320	189915320	C	G	COL5A2	c.3014G>C	NM_000393.5	NP_000384.2:p.(Gly1005Ala)	NC_000002.11:g.189915320C>G	VUS	1 lab	12f2092352
10:17164796 CUBN G>C	10	17164796	17164796	G	C	CUBN				NC_000010.10:g.17164796G>C	(Likely) pathogenic	1 lab	c308b4ba86
6:7574349 DSP G>A	6	7574349	7574349	G	A	DSP	c.2161G>A	NM_004415.3	NP_004406.2:p.(Glu721Lys)	NC_000006.11:g.7574349G>A	VUS	1 lab	c30c33225a
2:179444842 TTN A>G	2	179444842	179444842	A	G	TTN	c.67172T>C	NM_001267550.2	NP_001254479.2:p.(Val22391Ala)	NC_000002.11:g.179444842A>G	VUS	1 lab	c319f3da9b
1:229567834 ACTA1 C>T	1	229567834	229567834	C	T	ACTA1				NC_000001.10:g.229567834C>T	(Likely) pathogenic	1 lab	c31c666a6f
14:105169653 INF2 C>T	14	105169653	105169653	C	T	INF2				NC_000014.8:g.105169653C>T	(Likely) pathogenic	1 lab	c323953522
1:196887457 CFHR4 G>A	1	196887457	196887457	G	A	CFHR4	c.1658G>A	NM_001201550.2	NP_001188479.1:p.(Gly553Glu)	NC_000001.10:g.196887457G>A	(Likely) benign	1 lab	c327834ee6
3:137796362 DZIP1L G>A	3	137796362	137796362	G	A	DZIP1L	c.1401C>T	NM_173543.3	NP_775814.2:p.(Leu467=)	NC_000003.11:g.137796362G>A	(Likely) benign	1 lab	12f70ce410
X:22117217 PHEX G>A	X	22117217	22117217	G	A	PHEX	c.1027G>A	NM_000444.6	NP_000435.3:p.(Val343Ile)	NC_000023.10:g.22117217G>A	VUS	1 lab	c32e5b1c4f
18:19751994 GATA6 G>A	18	19751994	19751994	G	A	GATA6	c.889G>A	NM_005257.4	NP_005248.2:p.(Gly297Ser)	NC_000018.9:g.19751994G>A	(Likely) benign	1 lab	c33440366e
17:45362004 ITGB3 C>T	17	45362004	45362004	C	T	ITGB3	c.557C>T	NM_000212.2	NP_000203.2:p.(Pro186Leu)	NC_000017.10:g.45362004C>T	VUS	1 lab	c341edf361
19:4110566 MAP2K2 C>T	19	4110566	4110566	C	T	MAP2K2	c.391G>A	NM_030662.3	NP_109587.1:p.(Val131Met)	NC_000019.9:g.4110566C>T	(Likely) benign	1 lab	c3421b30f6
13:78477694 EDNRB G>T	13	78477694	78477694	G	T	EDNRB	c.802C>A	NM_001201397.1	NP_001188326.1:p.(Pro268Thr)	NC_000013.10:g.78477694G>T	VUS	1 lab	c343ed339c
16:56920391 SLC12A3 A>G	16	56920391	56920391	A	G	SLC12A3	c.2037+4A>G	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56920391A>G	(Likely) pathogenic	1 lab	c3457f8644
15:43908260 STRC G>A	15	43908260	43908260	G	A	STRC	c.1504C>T	NM_153700.2	NP_714544.1:p.(Gln502Ter)	NC_000015.9:g.43908260G>A	(Likely) pathogenic	1 lab	c35f920d66
3:114058180 ZBTB20 G>A	3	114058180	114058180	G	A	ZBTB20	c.1898C>T	NM_001164342.2	NP_001157814.1:p.(Ala633Val)	NC_000003.11:g.114058180G>A	(Likely) pathogenic	1 lab	c345fc246d
19:38991539 RYR1 G>A	19	38991539	38991539	G	A	RYR1	c.7523G>A	NM_000540.2	NP_000531.2:p.(Arg2508His)	NC_000019.9:g.38991539G>A	(Likely) pathogenic	1 lab	c3467dd409
X:41203570 DDX3X C>A	X	41203570	41203570	C	A	DDX3X	c.943C>A	NM_001193416.3	NP_001180345.1:p.(Arg315Ser)	NC_000023.10:g.41203570C>A	VUS	1 lab	c348a46f90
18:29178595 TTR A>G	18	29178595	29178595	A	G	TTR	c.401A>G	NM_000371.3	NP_000362.1:p.(Tyr134Cys)	NC_000018.9:g.29178595A>G	(Likely) pathogenic	1 lab	c34a619c74
1:11854880 MTHFR G>A	1	11854880	11854880	G	A	MTHFR	c.1072C>T	NM_005957.4	NP_005948.3:p.(Arg358Ter)	NC_000001.10:g.11854880G>A	(Likely) pathogenic	1 lab	c34dd1c787
13:113772726 F7 G>A	13	113772726	113772726	G	A	F7	c.806-1G>A	NM_000131.4	NP_000122.1:p.?	NC_000013.10:g.113772726G>A	(Likely) pathogenic	1 lab	c353ed41fd
17:62018693 SCN4A G>A	17	62018693	62018693	G	A	SCN4A	c.4949C>T	NM_000334.4	NP_000325.4:p.(Pro1650Leu)	NC_000017.10:g.62018693G>A	VUS	1 lab	c35622636c
15:89400515 ACAN AG>A	15	89400515	89400516	AG	A	ACAN	c.4700del	NM_013227.3	NP_037359.3:p.(Ser1567MetfsTer10)	NC_000015.9:g.89400516del	(Likely) pathogenic	1 lab	c356df4379
1:10386332 KIF1B G>T	1	10386332	10386332	G	T	KIF1B	c.2701G>T	NM_015074.3	NP_055889.2:p.(Ala901Ser)	NC_000001.10:g.10386332G>T	VUS	1 lab	c3581ac0de
1:26392834 TRIM63 C>T	1	26392834	26392834	C	T	TRIM63	c.257G>A	NM_032588.3	NP_115977.2:p.(Arg86His)	NC_000001.10:g.26392834C>T	VUS	1 lab	152db0dade
8:70501306 SULF1 G>A	8	70501306	70501306	G	A	SULF1	c.664G>A	NM_001128205.2	NP_001121677.1:p.(Ala222Thr)	NC_000008.10:g.70501306G>A	VUS	1 lab	0f87040400
7:73471010 ELN C>T	7	73471010	73471010	C	T	ELN	c.1324C>T	NM_000501.3	NP_000492.2:p.(Gln442Ter)	NC_000007.13:g.73471010C>T	(Likely) pathogenic	1 lab	c35dd04ba5
17:41219643 BRCA1 G>C	17	41219643	41219643	G	C	BRCA1	c.5056C>G	NM_007294.4	NP_009225.1:p.(His1686Asp)	NC_000017.10:g.41219643G>C	(Likely) pathogenic	1 lab	c35def5187
2:179616769 TTN GGA>G	2	179616769	179616771	GGA	G	TTN	c.11311+1080_11311+1081del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616770_179616771del	(Likely) benign	1 lab	c360c0c599
17:60685460 TLK2 C>G	17	60685460	60685460	C	G	TLK2	c.2030C>G	NM_006852.3	NP_006843.2:p.(Ala677Gly)	NC_000017.10:g.60685460C>G	VUS	1 lab	c361704cac
7:128477754 FLNC C>T	7	128477754	128477754	C	T	FLNC	c.914C>T	NM_001458.5	NP_001449.3:p.(Ala305Val)	NC_000007.13:g.128477754C>T	VUS	1 lab	c362741a57
X:30688568 GK G>T	X	30688568	30688568	G	T	GK	c.259+2333G>T	NM_000167.5	NP_000158.1:p.?	NC_000023.10:g.30688568G>T	(Likely) benign	1 lab	c362cb5b6b
9:131670227 LRRC8A C>T	9	131670227	131670227	C	T	LRRC8A	c.784C>T	NM_001127244.1	NP_001120716.1:p.(Arg262Cys)	NC_000009.11:g.131670227C>T	VUS	1 lab	c362d5d7f4
2:47630173 MSH2 G>A	2	47630173	47630173	G	A	MSH2				NC_000002.11:g.47630173G>A	(Likely) benign	1 lab	c8090e9c4c
3:111719763 TAGLN3 G>A	3	111719763	111719763	G	A	TAGLN3	c.325G>A	NM_001008272.1	NP_001008273.1:p.(Asp109Asn)	NC_000003.11:g.111719763G>A	VUS	1 lab	c364a9f1ef
16:2160103 PKD1 C>A	16	2160103	2160103	C	A	PKD1	c.5065G>T	NM_001009944.3	NP_001009944.3:p.(Glu1689Ter)	NC_000016.9:g.2160103C>A	(Likely) pathogenic	1 lab	c366b6963a
8:145639681 SLC39A4 G>C	8	145639681	145639681	G	C	SLC39A4	c.1114=	NM_130849.4	NP_570901.3:p.(Val372=)	NC_000008.10:g.145639681G>C	VUS	1 lab	c367c08f2e
5:137688617 KDM3B C>T	5	137688617	137688617	C	T	KDM3B	c.133C>T	NM_016604.3	NP_057688.2:p.(Arg45Ter)	NC_000005.9:g.137688617C>T	VUS	1 lab	c368b3335c
1:153785737 GATAD2B G>A	1	153785737	153785737	G	A	GATAD2B	c.1408C>T	NM_020699.2	NP_065750.1:p.(Gln470Ter)	NC_000001.10:g.153785737G>A	(Likely) pathogenic	1 lab	c36989fe77
19:36342149 NPHS1 G>A	19	36342149	36342149	G	A	NPHS1	c.397+15C>T	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36342149G>A	(Likely) benign	1 lab	12fd9ee254
19:50918801 POLD1 G>A	19	50918801	50918801	G	A	POLD1	c.2671G>A	NM_002691.4	NP_002682.2:p.(Ala891Thr)	NC_000019.9:g.50918801G>A	VUS	1 lab	c36afdadf0
11:76893133 MYO7A C>T	11	76893133	76893133	C	T	MYO7A	c.3041C>T	NM_000260.4	NP_000251.3:p.(Thr1014Met)	NC_000011.9:g.76893133C>T	VUS	1 lab	0f8776920d
11:64977937 CAPN1 A>G	11	64977937	64977937	A	G	CAPN1	c.2059+14A>G	NM_005186.3	NP_005177.2:p.?	NC_000011.9:g.64977937A>G	(Likely) benign	1 lab	c3708dc19b
X:149680554 MAMLD1 C>T	X	149680554	149680554	C	T	MAMLD1	c.2208=	NM_001177465.3	NP_001170936.1:p.(Ser736=)	NC_000023.10:g.149680554C>T	(Likely) benign	1 lab	0f8a99cf2c
17:62473940 POLG2 C>A	17	62473940	62473940	C	A	POLG2	c.1458G>T	NM_007215.4	NP_009146.2:p.(Ter486TyrextTer6)	NC_000017.10:g.62473940C>A	VUS	1 lab	c373023bc8
9:139418179 NOTCH1 G>A	9	139418179	139418179	G	A	NOTCH1	c.393C>T	NM_017617.5	NP_060087.3:p.(Pro131=)	NC_000009.11:g.139418179G>A	(Likely) benign	1 lab	12ff21bf35
8:145641329 SLC39A4 G>A	8	145641329	145641329	G	A	SLC39A4	c.339C>T	NM_130849.4	NP_570901.3:p.(Asp113=)	NC_000008.10:g.145641329G>A	(Likely) benign	1 lab	3455aedd18
1:247587805 NLRP3 G>A	1	247587805	247587805	G	A	NLRP3	c.1054G>A	NM_001243133.2	NP_001230062.1:p.(Ala352Thr)	NC_000001.10:g.247587805G>A	(Likely) pathogenic	1 lab	130058afb2
8:11614688 GATA4 G>T	8	11614688	11614688	G	T	GATA4	c.1146+96G>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11614688G>T	(Likely) benign	1 lab	c37678c105
3:38783748 SCN10A C>A	3	38783748	38783748	C	A	SCN10A	c.2106+34G>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38783748C>A	(Likely) benign	1 lab	c378d5883a
16:3293549 MEFV C>T	16	3293549	3293549	C	T	MEFV	c.1938G>A	NM_000243.2	NP_000234.1:p.(Pro646=)	NC_000016.9:g.3293549C>T	(Likely) benign	1 lab	130612eb0f
4:55599255 KIT C>A	4	55599255	55599255	C	A	KIT	c.2381C>A	NM_000222.2	NP_000213.1:p.(Ala794Glu)	NC_000004.11:g.55599255C>A	VUS	1 lab	c3811d1b08
10:97114655 SORBS1 C>T	10	97114655	97114655	C	T	SORBS1				NC_000010.10:g.97114655C>T	VUS	1 lab	c3828ff5fd
2:232141438 ARMC9 C>T	2	232141438	232141438	C	T	ARMC9	c.1424C>T	NM_025139.6	NP_079415.4:p.(Thr475Met)	NC_000002.11:g.232141438C>T	(Likely) benign	1 lab	13078a994e
13:113772948 F7 G>A	13	113772948	113772948	G	A	F7	c.1027G>A	NM_000131.4	NP_000122.1:p.(Gly343Ser)	NC_000013.10:g.113772948G>A	(Likely) pathogenic	1 lab	c3851fa549
1:237947208 RYR2 C>T	1	237947208	237947208	C	T	RYR2	c.12196C>T	NM_001035.2	NP_001026.2:p.(Leu4066Phe)	NC_000001.10:g.237947208C>T	VUS	1 lab	c38d880522
1:94496539 ABCA4 C>A	1	94496539	94496539	C	A	ABCA4	c.4253+13G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94496539C>A	VUS	1 lab	c38ef029a2
16:88503395 ZNF469 G>A	16	88503395	88503395	G	A	ZNF469	c.9517G>A	NM_001367624.2	NP_001354553.1:p.(Gly3173Arg)	NC_000016.9:g.88503395G>A	VUS	1 lab	c3905f044c
6:87967475 ZNF292 C>G	6	87967475	87967475	C	G	ZNF292	c.4128C>G	NM_015021.3	NP_055836.1:p.(Ile1376Met)	NC_000006.11:g.87967475C>G	VUS	1 lab	0f8abf2816
2:179449692 TTN G>A	2	179449692	179449692	G	A	TTN	c.64676C>T	NM_001267550.2	NP_001254479.2:p.(Ala21559Val)	NC_000002.11:g.179449692G>A	(Likely) benign	1 lab	c39365261d
X:23411217 PTCHD1 C>A	X	23411217	23411217	C	A	PTCHD1	c.1582C>A	NM_173495.3	NP_775766.2:p.(Leu528Ile)	NC_000023.10:g.23411217C>A	(Likely) benign	1 lab	c39521197d
1:94546234 ABCA4 G>T	1	94546234	94546234	G	T	ABCA4				NC_000001.10:g.94546234G>T	VUS	1 lab	c396a7b16d
5:90021012 ADGRV1 G>A	5	90021012	90021012	G	A	ADGRV1	c.10016G>A	NM_032119.3	NP_115495.3:p.(Ser3339Asn)	NC_000005.9:g.90021012G>A	VUS	1 lab	c3997ecfba
X:67339165 OPHN1 C>T	X	67339165	67339165	C	T	OPHN1	c.1286G>A	NM_002547.2	NP_002538.1:p.(Cys429Tyr)	NC_000023.10:g.67339165C>T	(Likely) benign	1 lab	c39a247dee
3:38950690 SCN11A A>G	3	38950690	38950690	A	G	SCN11A	c.1102-5T>C	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38950690A>G	(Likely) benign	1 lab	c39aac1528
3:38770057 SCN10A C>T	3	38770057	38770057	C	T	SCN10A	c.2616G>A	NM_006514.4	NP_006505.4:p.(Thr872=)	NC_000003.11:g.38770057C>T	(Likely) benign	1 lab	c39b963e0c
11:108159790 ATM C>A	11	108159790	108159790	C	A	ATM	c.4196C>A	NM_000051.4	NP_000042.3:p.(Thr1399Asn)	NC_000011.9:g.108159790C>A	VUS	1 lab	c39bdf8b0a
11:118343459 KMT2A A>T	11	118343459	118343459	A	T	KMT2A	c.1585A>T	NM_001197104.1	NP_001184033.1:p.(Arg529Ter)	NC_000011.9:g.118343459A>T	(Likely) pathogenic	1 lab	c39ce85de8
6:6305670 F13A1 C>T	6	6305670	6305670	C	T	F13A1	c.233G>A	NM_000129.4	NP_000120.2:p.(Arg78His)	NC_000006.11:g.6305670C>T	(Likely) pathogenic	1 lab	c3a1278b15
2:29296169 PCARE CG>C	2	29296169	29296170	CG	C	PCARE	c.958del	NM_001029883.2	NP_001025054.1:p.(Arg320AlafsTer3)	NC_000002.11:g.29296170del	(Likely) pathogenic	1 lab	c3a5bb0610
X:70330807 IL2RG A>C	X	70330807	70330807	A	C	IL2RG	c.209T>G	NM_000206.3	NP_000197.1:p.(Met70Arg)	NC_000023.10:g.70330807A>C	(Likely) pathogenic	1 lab	c3a7238159
3:47884576 DHX30 C>T	3	47884576	47884576	C	T	DHX30	c.673-20C>T	NM_014966.3	NP_055781.2:p.?	NC_000003.11:g.47884576C>T	(Likely) benign	1 lab	c3a87d958f
11:76877135 MYO7A G>A	11	76877135	76877135	G	A	MYO7A	c.1724G>A	NM_000260.3	NP_000251.3:p.(Gly575Glu)	NC_000011.9:g.76877135G>A	VUS	1 lab	c3a8c3bf46
3:38622540 SCN5A C>A	3	38622540	38622540	C	A	SCN5A	c.3110G>T	NM_198056.2	NP_932173.1:p.(Gly1037Val)	NC_000003.11:g.38622540C>A	VUS	1 lab	c3a90b1000
11:108094421 ATM T>A	11	108094421	108094421	T	A	ATM	c.-31+508T>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108094421T>A	(Likely) benign	1 lab	c3a9862121
10:28149640 ODAD2 C>T	10	28149640	28149640	C	T	ODAD2	c.2935G>A	NM_018076.4	NP_060546.2:p.(Val979Met)	NC_000010.10:g.28149640C>T	(Likely) benign	1 lab	c3aa9bf55c
2:215646080 BARD1 G>C	2	215646080	215646080	G	C	BARD1	c.518C>G	NM_000465.4	NP_000456.2:p.(Ala173Gly)	NC_000002.11:g.215646080G>C	(Likely) benign	1 lab	c3aecdd2c6
20:31019450 ASXL1 C>T	20	31019450	31019450	C	T	ASXL1	c.947C>T	NM_015338.5	NP_056153.2:p.(Ala316Val)	NC_000020.10:g.31019450C>T	(Likely) benign	1 lab	c3b0c0adb7
13:32910968 BRCA2 G>A	13	32910968	32910968	G	A	BRCA2	c.2476G>A	NM_000059.3	NP_000050.2:p.(Glu826Lys)	NC_000013.10:g.32910968G>A	(Likely) benign	1 lab	c3b1a0178f
2:167138326 SCN9A A>T	2	167138326	167138326	A	T	SCN9A	c.1975-8T>A	NM_001365536.1	NP_001352465.1:p.?	NC_000002.11:g.167138326A>T	(Likely) benign	1 lab	c3b1b2cb60
15:67004031 SMAD6 G>C	15	67004031	67004031	G	C	SMAD6	c.843G>C	NM_005585.4	NP_005576.3:p.(Arg281=)	NC_000015.9:g.67004031G>C	(Likely) benign	1 lab	c3b26bb0a5
3:70014048 MITF G>A	3	70014048	70014048	G	A	MITF	c.909G>A	NM_000248.3	NP_000239.1:p.(Thr303=)	NC_000003.11:g.70014048G>A	(Likely) pathogenic	1 lab	c3b2ded747
14:23884620 MYH7 A>G	14	23884620	23884620	A	G	MYH7	c.5253T>C	NM_000257.2	NP_000248.2:p.(Ala1751=)	NC_000014.8:g.23884620A>G	(Likely) benign	1 lab	1309655651
1:17380426 SDHB G>C	1	17380426	17380426	G	C	SDHB	c.72+17C>G	NM_003000.3	NP_002991.2:p.?	NC_000001.10:g.17380426G>C	(Likely) benign	1 lab	c3b3ad6c27
X:69669291 DLG3 A>T	X	69669291	69669291	A	T	DLG3				NC_000023.10:g.69669291A>T	(Likely) pathogenic	1 lab	c3b4b958a3
2:167263066 SCN7A C>T	2	167263066	167263066	C	T	SCN7A	c.4073G>A	NM_002976.4	NP_002967.2:p.(Arg1358His)	NC_000002.11:g.167263066C>T	VUS	1 lab	c3b7912bd0
2:179485488 TTN ATTGGTCAAAGACACATTATAGTTGGC>A	2	179485488	179485521	ATTGGTCAAAGACACATTATAGTTGGC	A	TTN	c.45823_45848del	NM_001267550.2	NP_001254479.2:p.(Ala15275SerfsTer4)	NC_000002.11:g.179485496_179485521del	(Likely) pathogenic	1 lab	0f918587f3
4:120057769 MYOZ2 A>AT	4	120057769	120057770	A	AT	MYOZ2				NC_000004.11:g.120057770dup	(Likely) benign	1 lab	c3b8323115
16:86601360 FOXC2 C>A	16	86601360	86601360	C	A	FOXC2	c.419C>A	NM_005251.3	NP_005242.1:p.(Pro140His)	NC_000016.9:g.86601360C>A	VUS	1 lab	0f9419d8f8
X:153421873 OPN1LW C>A	X	153421873	153421873	C	A	OPN1LW	c.849C>A	NM_020061.4	NP_064445.1:p.(Pro283=)	NC_000023.10:g.153421873C>A	(Likely) benign	1 lab	c3bbc5017c
17:29497016 NF1 GT>G	17	29497016	29497017	GT	G	NF1	c.586+2del	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29497017del	(Likely) pathogenic	1 lab	c3bcd7aa3d
13:20763136 GJB2 C>T	13	20763136	20763136	C	T	GJB2	c.585G>A	NM_004004.6	NP_003995.2:p.(Met195Ile)	NC_000013.10:g.20763136C>T	VUS	1 lab	c3be0b8792
13:111130421 COL4A2 G>T	13	111130421	111130421	G	T	COL4A2				NC_000013.10:g.111130421G>T	VUS	1 lab	c3be8993bb
4:651179 PDE6B G>A	4	651179	651179	G	A	PDE6B	c.1297G>A	NM_000283.3	NP_000274.2:p.(Asp433Asn)	NC_000004.11:g.651179G>A	VUS	1 lab	c3c13a011d
13:32968863 BRCA2 C>G	13	32968863	32968863	C	G	BRCA2	c.9294C>G	NM_000059.4	NP_000050.3:p.(Tyr3098Ter)	NC_000013.10:g.32968863C>G	(Likely) pathogenic	1 lab	0f95aa56fb
5:112175133 APC C>G	5	112175133	112175133	C	G	APC	c.3842C>G	NM_000038.6	NP_000029.2:p.(Ser1281Ter)	NC_000005.9:g.112175133C>G	(Likely) pathogenic	1 lab	c3e4eaeaba
12:110013801 MVK AGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG>A	12	110013801	110013952	AGGTAGCACTGGCTGTATCCTTGAACTTGAGAACATTCCTCCGGCTTCAACCCCACAGCAATGGGAAAGTGGACCTCAGCTTACCCAACATTGGTATCAAGCGGGCCTGGGATGTGGCCAGGCTTCAGTCACTGGACACAAGCTTTCTG	A	MVK	c.81_226+2del	NM_000431.4	NP_000422.1:p.?	NC_000012.11:g.110013805_110013952del	(Likely) pathogenic	1 lab	130e01d670
12:88454768 CEP290 CAGACTACGAA>C	12	88454768	88454781	CAGACTACGAA	C	CEP290	c.6358-7_6360del	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88454772_88454781del	(Likely) pathogenic	1 lab	c3c71d4ea8
X:73961427 NEXMIF G>A	X	73961427	73961427	G	A	NEXMIF	c.2965C>T	NM_001008537.2	NP_001008537.1:p.(Arg989Trp)	NC_000023.10:g.73961427G>A	VUS	1 lab	c3c8b2570c
19:13007757 GCDH G>A	19	13007757	13007757	G	A	GCDH	c.886G>A	NM_000159.2	NP_000150.1:p.(Gly296Ser)	NC_000019.9:g.13007757G>A	VUS	1 lab	c3cc1345bb
9:130984828 DNM1 C>G	9	130984828	130984828	C	G	DNM1	c.1081C>G	NM_004408.3	NP_004399.2:p.(Arg361Gly)	NC_000009.11:g.130984828C>G	(Likely) pathogenic	1 lab	c3d267da1f
18:44229113 LOXHD1 C>G	18	44229113	44229113	C	G	LOXHD1	c.245+5G>C	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44229113C>G	VUS	1 lab	c3d43b6009
2:179495874 TTN T>C	2	179495874	179495874	T	C	TTN	c.43901A>G	NM_001267550.2	NP_001254479.2:p.(Lys14634Arg)	NC_000002.11:g.179495874T>C	(Likely) benign	1 lab	c3d5c60ca8
7:73020411 MLXIPL A>G	7	73020411	73020411	A	G	MLXIPL	c.649T>C	NM_032951.3	NP_116569.1:p.(Trp217Arg)	NC_000007.13:g.73020411A>G	VUS	1 lab	0f96c1140a
11:119170290 CBL T>G	11	119170290	119170290	T	G	CBL	c.2520T>G	NM_005188.4	NP_005179.2:p.(Cys840Trp)	NC_000011.9:g.119170290T>G	(Likely) benign	1 lab	0f9703a682
3:100091478 TOMM70 C>T	3	100091478	100091478	C	T	TOMM70	c.1424G>A	NM_014820.5	NP_055635.3:p.(Cys475Tyr)	NC_000003.11:g.100091478C>T	(Likely) benign	1 lab	c3dc985807
X:12734228 FRMPD4 T>A	X	12734228	12734228	T	A	FRMPD4	c.1650T>A	NM_014728.3	NP_055543.2:p.(Asp550Glu)	NC_000023.10:g.12734228T>A	VUS	1 lab	0f989b7793
7:128484288 FLNC G>A	7	128484288	128484288	G	A	FLNC	c.3160G>A	NM_001458.5	NP_001449.3:p.(Val1054Met)	NC_000007.13:g.128484288G>A	VUS	1 lab	c3dfd5eb1f
11:47362772 MYBPC3 T>C	11	47362772	47362772	T	C	MYBPC3	c.1814A>G	NM_000256.3	NP_000247.2:p.(Asp605Gly)	NC_000011.9:g.47362772T>C	VUS	1 lab	c3e1d4f976
7:42212180 GLI3 C>T	7	42212180	42212180	C	T	GLI3	c.125-24113G>A	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42212180C>T	(Likely) benign	1 lab	0f9cef21c5
19:50189948 PRMT1 G>A	19	50189948	50189948	G	A	PRMT1	c.997G>A	NM_001536.5	NP_001527.3:p.(Gly333Ser)	NC_000019.9:g.50189948G>A	VUS	1 lab	c3e51e1752
X:100653873 GLA T>C	X	100653873	100653873	T	C	GLA	c.701A>G	NM_000169.2	NP_000160.1:p.(Asp234Gly)	NC_000023.10:g.100653873T>C	VUS	1 lab	c3e788ef4e
17:78078519 GAA C>T	17	78078519	78078519	C	T	GAA	c.134C>T	NM_000152.3	NP_000143.2:p.(Ser45Phe)	NC_000017.10:g.78078519C>T	VUS	1 lab	c3e96ceaba
6:32809495 PSMB8 G>A	6	32809495	32809495	G	A	PSMB8	c.555C>T	NM_148919.4	NP_683720.2:p.(Tyr185=)	NC_000006.11:g.32809495G>A	(Likely) benign	1 lab	13117130fc
11:121058603 TECTA G>A	11	121058603	121058603	G	A	TECTA				NC_000011.9:g.121058603G>A	(Likely) pathogenic	1 lab	c404a20a09
2:103149162 SLC9A4 A>G	2	103149162	103149162	A	G	SLC9A4	c.*15A>G	NM_001011552.3	NP_001011552.2:p.?	NC_000002.11:g.103149162A>G	(Likely) benign	1 lab	c3ec157955
3:132400762 NPHP3 G>T	3	132400762	132400762	G	T	NPHP3	c.3985C>A	NM_153240.4	NP_694972.3:p.(Gln1329Lys)	NC_000003.11:g.132400762G>T	VUS	1 lab	c3edf3b24a
4:106377878 PPA2 G>A	4	106377878	106377878	G	A	PPA2	c.182C>T	NM_176869.3	NP_789845.1:p.(Ser61Phe)	NC_000004.11:g.106377878G>A	(Likely) pathogenic	1 lab	c3f1720449
7:75677561 MDH2 G>A	7	75677561	75677561	G	A	MDH2	c.66+17G>A	NM_005918.3	NP_005909.2:p.?	NC_000007.13:g.75677561G>A	(Likely) benign	1 lab	c3f4f895f8
13:32903571 BRCA2 A>G	13	32903571	32903571	A	G	BRCA2	c.632-9A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32903571A>G	(Likely) benign	1 lab	c3f5afd1dc
2:166170231 SCN2A G>A	2	166170231	166170231	G	A	SCN2A	c.1136G>A	NM_001371246.1	NP_001358175.1:p.(Arg379His)	NC_000002.11:g.166170231G>A	(Likely) pathogenic	1 lab	c3f8d3daf4
6:119135994 MCM9 T>C	6	119135994	119135994	T	C	MCM9	c.3425A>G	NM_017696.3	NP_060166.2:p.(Lys1142Arg)	NC_000006.11:g.119135994T>C	VUS	1 lab	c3f8fccc02
16:89806347 FANCA A>T	16	89806347	89806347	A	T	FANCA	c.3934+55T>A	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89806347A>T	(Likely) benign	1 lab	0f9d373aae
6:33152798 COL11A2 C>G	6	33152798	33152798	C	G	COL11A2	c.910G>C	NM_080680.2	NP_542411.2:p.(Glu304Gln)	NC_000006.11:g.33152798C>G	VUS	1 lab	c3fc823826
6:157454299 ARID1B A>AG	6	157454299	157454300	A	AG	ARID1B	c.2471dup	NM_001346813.1	NP_001333742.1:p.(Ser824ArgfsTer16)	NC_000006.11:g.157454300dup	(Likely) pathogenic	1 lab	c3fe07a27f
10:89623251 KLLN G>A	10	89623251	89623251	G	A	KLLN				NC_000010.10:g.89623251G>A	(Likely) benign	1 lab	c46540a320
3:52435860 BAP1 G>A	3	52435860	52435860	G	A	BAP1	c.*444C>T	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52435860G>A	(Likely) benign	1 lab	c3ff57ef9a
5:112175303 APC C>T	5	112175303	112175303	C	T	APC	c.4012C>T	NM_000038.5	NP_000029.2:p.(Gln1338Ter)	NC_000005.9:g.112175303C>T	(Likely) pathogenic	1 lab	c402edd2c3
2:179476337 TTN C>T	2	179476337	179476337	C	T	TTN	c.50619G>A	NM_001267550.2	NP_001254479.2:p.(Trp16873Ter)	NC_000002.11:g.179476337C>T	(Likely) pathogenic	1 lab	0fa14ac760
9:140708886 EHMT1 T>G	9	140708886	140708886	T	G	EHMT1				NC_000009.11:g.140708886T>G	(Likely) pathogenic	1 lab	c408432c3f
7:103276890 RELN C>T	7	103276890	103276890	C	T	RELN	c.2095G>A	NM_005045.4	NP_005036.2:p.(Ala699Thr)	NC_000007.13:g.103276890C>T	VUS	1 lab	0fa48342d6
X:82764418 POU3F4 A>G	X	82764418	82764418	A	G	POU3F4	c.1086A>G	NM_000307.4	NP_000298.3:p.(Ter362TrpextTer113)	NC_000023.10:g.82764418A>G	(Likely) pathogenic	1 lab	c40cf8bb1e
4:140280991 NAA15 A>G	4	140280991	140280991	A	G	NAA15	c.1352A>G	NM_057175.3	NP_476516.1:p.(Tyr451Cys)	NC_000004.11:g.140280991A>G	VUS	1 lab	c40ec9b2e7
11:6629361 ILK C>T	11	6629361	6629361	C	T	ILK	c.175C>T	NM_004517.4	NP_004508.1:p.(Arg59Trp)	NC_000011.9:g.6629361C>T	VUS	1 lab	c40f9bfa6e
13:32893219 BRCA2 G>A	13	32893219	32893219	G	A	BRCA2	c.73G>A	NM_000059.3	NP_000050.2:p.(Gly25Arg)	NC_000013.10:g.32893219G>A	VUS	1 lab	c4106b07b0
1:241672030 FH T>G	1	241672030	241672030	T	G	FH	c.611A>C	NM_000143.4	NP_000134.2:p.(His204Pro)	NC_000001.10:g.241672030T>G	(Likely) pathogenic	1 lab	c41198c0ea
11:105804626 GRIA4 C>A	11	105804626	105804626	C	A	GRIA4	c.2225C>A	NM_000829.4	NP_000820.4:p.(Thr742Lys)	NC_000011.9:g.105804626C>A	(Likely) benign	1 lab	c415135c2a
15:43908133 STRC T>C	15	43908133	43908133	T	C	STRC	c.1631A>G	NM_153700.2	NP_714544.1:p.(Tyr544Cys)	NC_000015.9:g.43908133T>C	VUS	1 lab	c41643395d
9:109736551 ZNF462 C>T	9	109736551	109736551	C	T	ZNF462	c.6829C>T	NM_021224.5	NP_067047.4:p.(Arg2277Ter)	NC_000009.11:g.109736551C>T	(Likely) pathogenic	1 lab	c4177405dd
7:16460689 CRPPA A>G	7	16460689	16460689	A	G	CRPPA	c.257+2T>C	NM_001101426.3	NP_001094896.1:p.?	NC_000007.13:g.16460689A>G	(Likely) pathogenic	1 lab	c41c996959
13:32972473 BRCA2 A>G	13	32972473	32972473	A	G	BRCA2	c.9823A>G	NM_000059.3	NP_000050.2:p.(Ser3275Gly)	NC_000013.10:g.32972473A>G	(Likely) benign	1 lab	c41f25eec9
12:81028851 MISSING C>T	12	81028851	81028851	C	T	MISSING				NC_000012.11:g.81028851C>T	VUS	1 lab	c420c71a61
6:129837610 LAMA2 T>C	6	129837610	129837610	T	C	LAMA2	c.*118T>C	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129837610T>C	(Likely) benign	1 lab	c421a16835
1:216251618 USH2A A>T	1	216251618	216251618	A	T	USH2A	c.5385T>A	NM_206933.2	NP_996816.2:p.(Tyr1795Ter)	NC_000001.10:g.216251618A>T	(Likely) pathogenic	1 lab	c42256d960
4:6623011 MISSING G>A	4	6623011	6623011	G	A	MISSING				NC_000004.11:g.6623011G>A	(Likely) benign	1 lab	c423c106ef
8:10469327 RP1L1 C>T	8	10469327	10469327	C	T	RP1L1	c.2281G>A	NM_178857.6	NP_849188.4:p.(Gly761Arg)	NC_000008.10:g.10469327C>T	(Likely) benign	1 lab	c425389163
7:50544323 DDC C>T	7	50544323	50544323	C	T	DDC	c.1040G>A	NM_000790.3	NP_000781.1:p.(Arg347Gln)	NC_000007.13:g.50544323C>T	(Likely) pathogenic	1 lab	c428d04494
8:30946482 WRN G>A	8	30946482	30946482	G	A	WRN	c.1652+1G>A	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.30946482G>A	(Likely) pathogenic	1 lab	c428e50ed1
17:17701072 RAI1 C>T	17	17701072	17701072	C	T	RAI1	c.4810C>T	NM_030665.3	NP_109590.3:p.(Arg1604Ter)	NC_000017.10:g.17701072C>T	(Likely) pathogenic	1 lab	c42acf69a9
17:41223117 BRCA1 A>T	17	41223117	41223117	A	T	BRCA1	c.4814T>A	NM_007294.3	NP_009225.1:p.(Leu1605Ter)	NC_000017.10:g.41223117A>T	(Likely) pathogenic	1 lab	c42df08cde
18:25565665 CDH2 T>C	18	25565665	25565665	T	C	CDH2	c.1802A>G	NM_001792.4	NP_001783.2:p.(Asn601Ser)	NC_000018.9:g.25565665T>C	VUS	1 lab	c437236b65
2:166912973 SCN1A T>A	2	166912973	166912973	T	A	SCN1A	c.421A>T	NM_001165963.1	NP_001159435.1:p.(Asn141Tyr)	NC_000002.11:g.166912973T>A	VUS	1 lab	c43a1ed0d6
1:94502756 ABCA4 G>A	1	94502756	94502756	G	A	ABCA4	c.3758C>T	NM_000350.2	NP_000341.2:p.(Thr1253Met)	NC_000001.10:g.94502756G>A	VUS	1 lab	c43a4fe222
12:2566788 CACNA1C G>A	12	2566788	2566788	G	A	CACNA1C	c.673G>A	NM_199460.2	NP_955630.2:p.(Gly225Arg)	NC_000012.11:g.2566788G>A	VUS	1 lab	c43ce57fd8
8:38326109 FGFR1 G>A	8	38326109	38326109	G	A	FGFR1	c.-699C>T	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38326109G>A	(Likely) benign	1 lab	c4403458b6
6:157100396 ARID1B GCGCCGC>G	6	157100396	157100413	GCGCCGC	G	ARID1B	c.1594_1599del	NM_001371656.1	NP_001358585.1:p.(Pro532_Pro533del)	NC_000006.11:g.157100408_157100413del	VUS	1 lab	0fa678c49e
11:86662794 FZD4 C>T	11	86662794	86662794	C	T	FZD4	c.1004G>A	NM_012193.3	NP_036325.2:p.(Trp335Ter)	NC_000011.9:g.86662794C>T	(Likely) pathogenic	1 lab	c445fad8f6
10:71128310 HK1 A>T	10	71128310	71128310	A	T	HK1	c.514A>T	NM_000188.3	NP_000179.2:p.(Thr172Ser)	NC_000010.10:g.71128310A>T	VUS	1 lab	0fa961955f
1:168262467 TBX19 C>T	1	168262467	168262467	C	T	TBX19	c.554C>T	NM_005149.3	NP_005140.1:p.(Ser185Phe)	NC_000001.10:g.168262467C>T	(Likely) pathogenic	1 lab	c449f5959f
5:112173897 APC AT>A	5	112173897	112173898	AT	A	APC	c.2607del	NM_000038.6	NP_000029.2:p.(Pro870GlnfsTer46)	NC_000005.9:g.112173898del	(Likely) pathogenic	1 lab	c44d862282
X:18690187 RS1 A>G	X	18690187	18690187	A	G	RS1	c.2T>C	NM_000330.3	NP_000321.1:p.(Met1?)	NC_000023.10:g.18690187A>G	(Likely) pathogenic	1 lab	c44de53b07
5:45262616 HCN1 G>T	5	45262616	45262616	G	T	HCN1	c.2080C>A	NM_021072.3	NP_066550.2:p.(Leu694Met)	NC_000005.9:g.45262616G>T	VUS	1 lab	c451b56a6f
X:77284933 MISSING G>A	X	77284933	77284933	G	A	MISSING				NC_000023.10:g.77284933G>A	VUS	1 lab	c4585d41f9
1:120458586 NOTCH2 C>T	1	120458586	120458586	C	T	NOTCH2				NC_000001.10:g.120458586C>T	(Likely) pathogenic	1 lab	c458883f60
18:31318450 ASXL3 G>A	18	31318450	31318450	G	A	ASXL3	c.1083-1G>A	NM_030632.3	NP_085135.1:p.?	NC_000018.9:g.31318450G>A	(Likely) pathogenic	1 lab	c45ea7eae4
11:2869106 KCNQ1 G>A	11	2869106	2869106	G	A	KCNQ1	c.1904G>A	NM_000218.2	NP_000209.2:p.(Gly635Glu)	NC_000011.9:g.2869106G>A	(Likely) benign	1 lab	c460ea18da
11:2869091 KCNQ1 C>T	11	2869091	2869091	C	T	KCNQ1	c.1889C>T	NM_000218.2	NP_000209.2:p.(Pro630Leu)	NC_000011.9:g.2869091C>T	(Likely) benign	1 lab	c4636e4d16
3:49065217 IMPDH2 G>A	3	49065217	49065217	G	A	IMPDH2	c.457C>T	NM_000884.3	NP_000875.2:p.(Arg153Cys)	NC_000003.11:g.49065217G>A	VUS	1 lab	0fab341941
3:122003625 CASR G>A	3	122003625	122003625	G	A	CASR	c.2824G>A	NM_000388.3	NP_000379.2:p.(Glu942Lys)	NC_000003.11:g.122003625G>A	(Likely) benign	1 lab	c466ce5fac
20:61981554 CHRNA4 C>A	20	61981554	61981554	C	A	CHRNA4	c.1209G>T	NM_000744.7	NP_000735.1:p.(Pro403=)	NC_000020.10:g.61981554C>A	(Likely) benign	1 lab	0fb55bb417
17:48246468 SGCA G>A	17	48246468	48246468	G	A	SGCA	c.600G>A	NM_000023.3	NP_000014.1:p.(Val200=)	NC_000017.10:g.48246468G>A	VUS	1 lab	c46a0ce756
9:35658038 CCDC107 G>GGCTTCACAGAGTAGT	9	35658038	35658039	G	GGCTTCACAGAGTAGT	CCDC107				NC_000009.11:g.35658038_35658039insGCTTCACAGAGTAGT	(Likely) pathogenic	1 lab	0fb6c48a97
17:59821817 BRIP1 C>T	17	59821817	59821817	C	T	BRIP1	c.2233G>A	NM_032043.2	NP_114432.2:p.(Ala745Thr)	NC_000017.10:g.59821817C>T	VUS	1 lab	c46ac77265
1:228566078 OBSCN G>A	1	228566078	228566078	G	A	OBSCN	c.26551G>A	NM_001271223.2	NP_001258152.2:p.(Gly8851Ser)	NC_000001.10:g.228566078G>A	VUS	1 lab	c46b3c6bf8
13:35770132 NBEA A>C	13	35770132	35770132	A	C	NBEA	c.5059A>C	NM_015678.5	NP_056493.3:p.(Asn1687His)	NC_000013.10:g.35770132A>C	VUS	1 lab	c46c0f0807
7:154564611 MISSING C>T	7	154564611	154564611	C	T	MISSING				NC_000007.13:g.154564611C>T	(Likely) benign	1 lab	c46c304f66
11:61724886 BEST1 G>A	11	61724886	61724886	G	A	BEST1	c.664G>A	NM_004183.3	NP_004174.1:p.(Gly222Arg)	NC_000011.9:g.61724886G>A	(Likely) pathogenic	1 lab	c4710405d4
6:152576150 SYNE1 T>G	6	152576150	152576150	T	G	SYNE1				NC_000006.11:g.152576150T>G	(Likely) benign	1 lab	c47390a679
19:33464993 FAAP24 G>A	19	33464993	33464993	G	A	FAAP24	c.271G>A	NM_152266.5	NP_689479.1:p.(Val91Ile)	NC_000019.9:g.33464993G>A	VUS	1 lab	1045d731ce
1:200967635 KIF21B C>T	1	200967635	200967635	C	T	KIF21B	c.1954G>A	NM_001252100.1	NP_001239029.1:p.(Glu652Lys)	NC_000001.10:g.200967635C>T	VUS	1 lab	c47c48a57d
20:44048208 PIGT T>C	20	44048208	44048208	T	C	PIGT	c.659T>C	NM_015937.5	NP_057021.2:p.(Val220Ala)	NC_000020.10:g.44048208T>C	(Likely) pathogenic	1 lab	c47d796133
1:201341168 TNNT2 T>C	1	201341168	201341168	T	C	TNNT2	c.54A>G	NM_001001430.3	NP_001001430.1:p.(Glu18=)	NC_000001.10:g.201341168T>C	(Likely) benign	1 lab	c47fb68194
15:43904577 STRC G>A	15	43904577	43904577	G	A	STRC	c.2914C>T	NM_153700.2	NP_714544.1:p.(Arg972Trp)	NC_000015.9:g.43904577G>A	(Likely) pathogenic	1 lab	c480549cdf
1:237787153 RYR2 A>G	1	237787153	237787153	A	G	RYR2	c.6005A>G	NM_001035.3	NP_001026.2:p.(Asp2002Gly)	NC_000001.10:g.237787153A>G	VUS	1 lab	c4828d2a23
2:48026014 MSH6 C>T	2	48026014	48026014	C	T	MSH6	c.892C>T	NM_000179.2	NP_000170.1:p.(Arg298Ter)	NC_000002.11:g.48026014C>T	(Likely) pathogenic	1 lab	c486860d90
3:24009322 NR1D2 G>T	3	24009322	24009322	G	T	NR1D2	c.1351G>T	NM_005126.5	NP_005117.3:p.(Ala451Ser)	NC_000003.11:g.24009322G>T	VUS	1 lab	0fb97b1081
4:158059955 GLRB T>A	4	158059955	158059955	T	A	GLRB	c.611-6T>A	NM_000824.4	NP_000815.1:p.?	NC_000004.11:g.158059955T>A	(Likely) benign	1 lab	132c657f11
10:112404372 RBM20 C>T	10	112404372	112404372	C	T	RBM20	c.160C>T	NM_001134363.2	NP_001127835.2:p.(Pro54Ser)	NC_000010.10:g.112404372C>T	VUS	1 lab	c48dbe0b4f
3:52088075 DUSP7 G>A	3	52088075	52088075	G	A	DUSP7	c.833C>T	NM_001947.4	NP_001938.2:p.(Thr278Ile)	NC_000003.11:g.52088075G>A	VUS	1 lab	c48ee751a8
X:73812729 RLIM T>C	X	73812729	73812729	T	C	RLIM	c.421A>G	NM_183353.2	NP_899196.1:p.(Ile141Val)	NC_000023.10:g.73812729T>C	VUS	1 lab	c48f7adf97
10:18787376 CACNB2 C>T	10	18787376	18787376	C	T	CACNB2	c.261C>T	NM_000724.3	NP_000715.2:p.(Phe87=)	NC_000010.10:g.18787376C>T	(Likely) benign	1 lab	c491c8dc35
11:36614367 RAG2 C>G	11	36614367	36614367	C	G	RAG2	c.1352G>C	NM_000536.3	NP_000527.2:p.(Gly451Ala)	NC_000011.9:g.36614367C>G	(Likely) pathogenic	1 lab	c492dc2c5d
2:179495868 TTN T>C	2	179495868	179495868	T	C	TTN	c.43907A>G	NM_001267550.2	NP_001254479.2:p.(Asp14636Gly)	NC_000002.11:g.179495868T>C	VUS	1 lab	c493a6094c
2:48026955 MSH6 T>C	2	48026955	48026955	T	C	MSH6	c.1833T>C	NM_000179.3	NP_000170.1:p.(Ser611=)	NC_000002.11:g.48026955T>C	(Likely) benign	1 lab	c49518979b
8:61773483 CHD7 A>T	8	61773483	61773483	A	T	CHD7	c.7629A>T	NM_017780.3	NP_060250.2:p.(Lys2543Asn)	NC_000008.10:g.61773483A>T	(Likely) pathogenic	1 lab	c4968f7a2a
2:179579239 TTN C>G	2	179579239	179579239	C	G	TTN	c.26262G>C	NM_001267550.2	NP_001254479.2:p.(Gln8754His)	NC_000002.11:g.179579239C>G	VUS	1 lab	c49774a607
12:57594955 LRP1 G>A	12	57594955	57594955	G	A	LRP1	c.10345+19G>A	NM_002332.2	NP_002323.2:p.?	NC_000012.11:g.57594955G>A	(Likely) benign	1 lab	c49951fd61
11:108173749 ATM T>C	11	108173749	108173749	T	C	ATM	c.5489T>C	NM_000051.4	NP_000042.3:p.(Met1830Thr)	NC_000011.9:g.108173749T>C	VUS	1 lab	c4997b8134
3:10183455 VHL C>T	3	10183455	10183455	C	T	VHL	c.-77C>T	NM_000551.3	NP_000542.1:p.?	NC_000003.11:g.10183455C>T	(Likely) benign	1 lab	c49ad5383d
19:36326643 NPHS1 C>T	19	36326643	36326643	C	T	NPHS1	c.3130G>A	NM_004646.3	NP_004637.1:p.(Glu1044Lys)	NC_000019.9:g.36326643C>T	(Likely) benign	1 lab	132c80f5b9
19:4117530 MAP2K2 C>A	19	4117530	4117530	C	A	MAP2K2	c.190G>T	NM_030662.3	NP_109587.1:p.(Val64Phe)	NC_000019.9:g.4117530C>A	(Likely) pathogenic	1 lab	c49c6c26c4
12:6132014 VWF A>C	12	6132014	6132014	A	C	VWF	c.3430T>G	NM_000552.3	NP_000543.2:p.(Trp1144Gly)	NC_000012.11:g.6132014A>C	(Likely) pathogenic	1 lab	c49e4dc2d3
8:55534065 RP1 T>G	8	55534065	55534065	T	G	RP1				NC_000008.10:g.55534065T>G	VUS	1 lab	c49f345349
18:55315959 ATP8B1 G>A	18	55315959	55315959	G	A	ATP8B1	c.3532-15C>T	NM_005603.4	NP_005594.1:p.?	NC_000018.9:g.55315959G>A	(Likely) benign	1 lab	c4a4aea151
2:29287708 PCARE C>T	2	29287708	29287708	C	T	PCARE				NC_000002.11:g.29287708C>T	(Likely) benign	1 lab	c4a4b59a19
2:166167016 SCN2A C>T	2	166167016	166167016	C	T	SCN2A				NC_000002.11:g.166167016C>T	VUS	1 lab	c4a623e6a0
11:65983671 PACS1 A>C	11	65983671	65983671	A	C	PACS1	c.742A>C	NM_018026.3	NP_060496.2:p.(Ile248Leu)	NC_000011.9:g.65983671A>C	(Likely) benign	1 lab	c4ad07fca3
11:47371422 MYBPC3 G>A	11	47371422	47371422	G	A	MYBPC3	c.557C>T	NM_000256.3	NP_000247.2:p.(Pro186Leu)	NC_000011.9:g.47371422G>A	VUS	1 lab	c4ad7250de
6:32726803 HLA-DQB2 C>T	6	32726803	32726803	C	T	HLA-DQB2	c.470G>A	NM_001198858.2	NP_001185787.1:p.(Arg157Gln)	NC_000006.11:g.32726803C>T	(Likely) benign	1 lab	0fbdb51615
9:124088952 GSN G>T	9	124088952	124088952	G	T	GSN	c.1732G>T	NM_000177.5	NP_000168.1:p.(Ala578Ser)	NC_000009.11:g.124088952G>T	VUS	1 lab	132df51099
19:10913034 DNM2 A>C	19	10913034	10913034	A	C	DNM2	c.1493A>C	NM_001005361.3	NP_001005361.1:p.(Asn498Thr)	NC_000019.9:g.10913034A>C	VUS	1 lab	c4ba4689dd
16:1498501 CLCN7 G>A	16	1498501	1498501	G	A	CLCN7	c.1884-16C>T	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1498501G>A	(Likely) benign	1 lab	c4bb723168
22:29115433 CHEK2 AACTG>A	22	29115433	29115442	AACTG	A	CHEK2	c.629_632del	NM_007194.4	NP_009125.1:p.(Ser210PhefsTer6)	NC_000022.10:g.29115439_29115442del	(Likely) pathogenic	1 lab	c4bd0b342c
10:89692927 PTEN A>G	10	89692927	89692927	A	G	PTEN	c.411A>G	NM_000314.4	NP_000305.3:p.(Ala137=)	NC_000010.10:g.89692927A>G	(Likely) benign	1 lab	c4c052e34d
11:22248947 ANO5 G>A	11	22248947	22248947	G	A	ANO5	c.463G>A	NM_213599.3	NP_998764.1:p.(Glu155Lys)	NC_000011.9:g.22248947G>A	VUS	1 lab	0fc226a179
17:7803968 CHD3 G>A	17	7803968	7803968	G	A	CHD3	c.3074G>A	NM_001005271.2	NP_001005271.2:p.(Arg1025Gln)	NC_000017.10:g.7803968G>A	(Likely) pathogenic	1 lab	c4c65620ce
X:48374168 PORCN G>A	X	48374168	48374168	G	A	PORCN	c.1010G>A	NM_203475.3	NP_982301.1:p.(Ser337Asn)	NC_000023.10:g.48374168G>A	VUS	1 lab	c4c6d9b747
X:153609261 EMD C>T	X	153609261	153609261	C	T	EMD	c.469C>T	NM_000117.2	NP_000108.1:p.(Arg157Trp)	NC_000023.10:g.153609261C>T	VUS	1 lab	c4ca45e9b1
1:94463442 ABCA4 G>C	1	94463442	94463442	G	C	ABCA4	c.6704C>G	NM_000350.2	NP_000341.2:p.(Ser2235Ter)	NC_000001.10:g.94463442G>C	(Likely) pathogenic	1 lab	c4d29f6d8b
1:216462665 USH2A C>T	1	216462665	216462665	C	T	USH2A	c.1928G>A	NM_206933.2	NP_996816.2:p.(Cys643Tyr)	NC_000001.10:g.216462665C>T	VUS	1 lab	c4d5937f6e
17:41245604 BRCA1 T>C	17	41245604	41245604	T	C	BRCA1	c.1944A>G	NM_007294.4	NP_009225.1:p.(Glu648=)	NC_000017.10:g.41245604T>C	(Likely) benign	1 lab	c4d8a1ce2a
2:167262180 SCN7A C>G	2	167262180	167262180	C	G	SCN7A	c.4959G>C	NM_002976.4	NP_002967.2:p.(Met1653Ile)	NC_000002.11:g.167262180C>G	(Likely) benign	1 lab	c4dcea2b31
12:6138650 VWF T>C	12	6138650	6138650	T	C	VWF	c.2825A>G	NM_000552.5	NP_000543.3:p.(Asn942Ser)	NC_000012.11:g.6138650T>C	(Likely) benign	1 lab	c4dd15613c
20:36030855 SRC G>A	20	36030855	36030855	G	A	SRC	c.1134G>A	NM_005417.4	NP_005408.1:p.(Ala378=)	NC_000020.10:g.36030855G>A	(Likely) benign	1 lab	13351cc0b6
9:136319496 ADAMTS13 G>A	9	136319496	136319496	G	A	ADAMTS13	c.3045-41G>A	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136319496G>A	(Likely) benign	1 lab	133570f65d
16:3304441 MEFV G>A	16	3304441	3304441	G	A	MEFV	c.627C>T	NM_000243.2	NP_000234.1:p.(Ser209=)	NC_000016.9:g.3304441G>A	(Likely) benign	1 lab	1336e57786
2:102314993 MAP4K4 T>G	2	102314993	102314993	T	G	MAP4K4	c.116T>G	NM_145686.3	NP_663719.2:p.(Val39Gly)	NC_000002.11:g.102314993T>G	(Likely) pathogenic	1 lab	c4e6230818
1:22030080 USP48 C>A	1	22030080	22030080	C	A	USP48	c.2547G>T	NM_032236.8	NP_115612.4:p.(Leu849Phe)	NC_000001.10:g.22030080C>A	VUS	1 lab	c4e7254a2e
6:157405907 ARID1B C>T	6	157405907	157405907	C	T	ARID1B	c.2359C>T	NM_001374828.1	NP_001361757.1:p.(Gln787Ter)	NC_000006.11:g.157405907C>T	(Likely) pathogenic	1 lab	c4e791373b
12:48387263 COL2A1 T>C	12	48387263	48387263	T	C	COL2A1	c.947A>G	NM_001844.4	NP_001835.3:p.(Glu316Gly)	NC_000012.11:g.48387263T>C	(Likely) benign	1 lab	c4e8308aa5
14:102470959 DYNC1H1 G>A	14	102470959	102470959	G	A	DYNC1H1	c.4988G>A	NM_001376.4	NP_001367.2:p.(Ser1663Asn)	NC_000014.8:g.102470959G>A	(Likely) benign	1 lab	c4eb9b8591
5:176939356 DDX41 CTG>C	5	176939356	176939361	CTG	C	DDX41	c.1586_1587del	NM_016222.4	NP_057306.2:p.(Thr529ArgfsTer12)	NC_000005.9:g.176939360_176939361del	(Likely) pathogenic	1 lab	c4eba31fa8
2:241737132 KIF1A C>T	2	241737132	241737132	C	T	KIF1A	c.38G>A	NM_001244008.1	NP_001230937.1:p.(Arg13His)	NC_000002.11:g.241737132C>T	VUS	1 lab	c4ee75c0f5
12:6143984 VWF T>C	12	6143984	6143984	T	C	VWF	c.2555A>G	NM_000552.5	NP_000543.3:p.(Gln852Arg)	NC_000012.11:g.6143984T>C	(Likely) benign	1 lab	0fca949aa3
11:108236087 ATM G>A	11	108236087	108236087	G	A	ATM	c.9023G>A	NM_000051.3	NP_000042.3:p.(Arg3008His)	NC_000011.9:g.108236087G>A	(Likely) pathogenic	1 lab	c4f2740267
16:23641195 PALB2 A>G	16	23641195	23641195	A	G	PALB2	c.2280T>C	NM_024675.4	NP_078951.2:p.(Leu760=)	NC_000016.9:g.23641195A>G	(Likely) benign	1 lab	c4f2c01ccd
6:32797726 TAP2 C>T	6	32797726	32797726	C	T	TAP2	c.1776G>A	NM_000544.3	NP_000535.3:p.(Met592Ile)	NC_000006.11:g.32797726C>T	(Likely) benign	1 lab	1336fdc69e
7:6021448 PMS2 G>C	7	6021448	6021448	G	C	PMS2	c.2174+1007C>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6021448G>C	(Likely) benign	1 lab	c4f3392c3a
X:79945267 BRWD3 C>A	X	79945267	79945267	C	A	BRWD3	c.3807G>T	NM_153252.5	NP_694984.5:p.(Glu1269Asp)	NC_000023.10:g.79945267C>A	(Likely) pathogenic	1 lab	c4f49564ee
X:38158238 RPGR G>C	X	38158238	38158238	G	C	RPGR	c.1216C>G	NM_001034853.2	NP_001030025.1:p.(Leu406Val)	NC_000023.10:g.38158238G>C	VUS	1 lab	c4f4e1afe1
2:227922402 COL4A4 GGA>G	2	227922402	227922405	GGA	G	COL4A4	c.2384-88_2384-87del	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227922404_227922405del	(Likely) benign	1 lab	c4f5012f0a
1:63867975 ALG6 C>T	1	63867975	63867975	C	T	ALG6	c.218C>T	NM_013339.3	NP_037471.2:p.(Pro73Leu)	NC_000001.10:g.63867975C>T	VUS	1 lab	c4f527f88f
4:176561335 MISSING G>A	4	176561335	176561335	G	A	MISSING				NC_000004.11:g.176561335G>A	VUS	1 lab	c4f826a9d1
1:169511160 F5 G>T	1	169511160	169511160	G	T	F5	c.3168C>A	NM_000130.5	NP_000121.2:p.(Tyr1056Ter)	NC_000001.10:g.169511160G>T	(Likely) pathogenic	1 lab	c4f878ee8a
2:220284975 DES C>T	2	220284975	220284975	C	T	DES	c.642C>T	NM_001927.3	NP_001918.3:p.(Asp214=)	NC_000002.11:g.220284975C>T	(Likely) benign	1 lab	c4fef316e6
9:98229624 PTCH1 C>T	9	98229624	98229624	C	T	PTCH1	c.2334G>A	NM_000264.4	NP_000255.2:p.(Thr778=)	NC_000009.11:g.98229624C>T	(Likely) benign	1 lab	c5004dcd34
2:179417620 TTN A>G	2	179417620	179417620	A	G	TTN	c.90007T>C	NM_001267550.2	NP_001254479.2:p.(Phe30003Leu)	NC_000002.11:g.179417620A>G	VUS	1 lab	0fd033ebef
2:47709975 MSH2 G>T	2	47709975	47709975	G	T	MSH2	c.2692G>T	NM_000251.3	NP_000242.1:p.(Glu898Ter)	NC_000002.11:g.47709975G>T	(Likely) pathogenic	1 lab	c50317b05d
10:69902700 MYPN G>A	10	69902700	69902700	G	A	MYPN	c.906G>A	NM_032578.3	NP_115967.2:p.(Trp302Ter)	NC_000010.10:g.69902700G>A	(Likely) pathogenic	1 lab	c507ce1cd1
6:158565393 SERAC1 G>A	6	158565393	158565393	G	A	SERAC1	c.547C>T	NM_032861.3	NP_116250.3:p.(Arg183Ter)	NC_000006.11:g.158565393G>A	(Likely) pathogenic	1 lab	c5082db321
5:112175240 APC G>T	5	112175240	112175240	G	T	APC	c.3949G>T	NM_000038.6	NP_000029.2:p.(Glu1317Ter)	NC_000005.9:g.112175240G>T	(Likely) pathogenic	1 lab	c5084e20f0
7:151511488 PRKAG2 G>T	7	151511488	151511488	G	T	PRKAG2	c.115-27861C>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151511488G>T	(Likely) benign	1 lab	c50b219d94
4:151186865 LRBA C>A	4	151186865	151186865	C	A	LRBA	c.*9G>T	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151186865C>A	(Likely) benign	1 lab	c50be54525
7:73474268 ELN C>A	7	73474268	73474268	C	A	ELN	c.1467C>A	NM_000501.3	NP_000492.2:p.(Val489=)	NC_000007.13:g.73474268C>A	(Likely) benign	1 lab	c50e2add97
1:103354115 COL11A1 T>C	1	103354115	103354115	T	C	COL11A1	c.4608+18A>G	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103354115T>C	(Likely) benign	1 lab	c50ecd8268
5:150701743 SLC36A2 G>A	5	150701743	150701743	G	A	SLC36A2	c.1044C>T	NM_181776.3	NP_861441.2:p.(Ala348=)	NC_000005.9:g.150701743G>A	(Likely) benign	1 lab	1339da4127
3:11064071 SLC6A1 C>T	3	11064071	11064071	C	T	SLC6A1	c.631C>T	NM_003042.4	NP_003033.3:p.(Arg211Cys)	NC_000003.11:g.11064071C>T	(Likely) pathogenic	1 lab	c5136e6646
20:6058001 FERMT1 A>G	20	6058001	6058001	A	G	FERMT1	c.1861-8T>C	NM_017671.5	NP_060141.3:p.?	NC_000020.10:g.6058001A>G	(Likely) benign	1 lab	133aafc32d
8:87623834 CNGB3 AC>A	8	87623834	87623836	AC	A	CNGB3	c.1643del	NM_019098.4	NP_061971.3:p.(Gly548ValfsTer37)	NC_000008.10:g.87623836del	(Likely) pathogenic	1 lab	c51834fb42
11:108213932 ATM T>A	11	108213932	108213932	T	A	ATM	c.8269-17T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108213932T>A	(Likely) benign	1 lab	c51eeeb317
X:38158290 RPGR C>T	X	38158290	38158290	C	T	RPGR	c.1164G>A	NM_001034853.1	NP_001030025.1:p.(Ala388=)	NC_000023.10:g.38158290C>T	(Likely) benign	1 lab	c520c69f3b
5:90119270 ADGRV1 C>T	5	90119270	90119270	C	T	ADGRV1	c.16225C>T	NM_032119.4	NP_115495.3:p.(Arg5409Ter)	NC_000005.9:g.90119270C>T	(Likely) pathogenic	1 lab	c52125ca68
10:115409794 NRAP A>G	10	115409794	115409794	A	G	NRAP	c.888+2T>C	NM_001261463.1	NP_001248392.1:p.?	NC_000010.10:g.115409794A>G	(Likely) pathogenic	1 lab	13400f8a24
14:55326450 GCH1 T>C	14	55326450	55326450	T	C	GCH1	c.458A>G	NM_000161.2	NP_000152.1:p.(His153Arg)	NC_000014.8:g.55326450T>C	VUS	1 lab	c528c191b2
8:143996449 CYP11B2 G>A	8	143996449	143996449	G	A	CYP11B2	c.595+13C>T	NM_000498.3	NP_000489.3:p.?	NC_000008.10:g.143996449G>A	(Likely) benign	1 lab	c529e8da5b
15:54305383 UNC13C C>T	15	54305383	54305383	C	T	UNC13C	c.283C>T	NM_001080534.1	NP_001074003.1:p.(Arg95Ter)	NC_000015.9:g.54305383C>T	(Likely) benign	1 lab	c52c1baebd
7:131195724 PODXL CG>C	7	131195724	131195729	CG	C	PODXL	c.568del	NM_001018111.3	NP_001018121.1:p.(Arg190AspfsTer21)	NC_000007.13:g.131195729del	(Likely) pathogenic	1 lab	1344be4bd4
2:73677303 ALMS1 A>T	2	73677303	73677303	A	T	ALMS1	c.3652A>T	NM_015120.4	NP_055935.4:p.(Lys1218Ter)	NC_000002.11:g.73677303A>T	(Likely) pathogenic	1 lab	c52eab629c
5:90025412 ADGRV1 T>C	5	90025412	90025412	T	C	ADGRV1	c.10427-47T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90025412T>C	(Likely) benign	1 lab	1345987f27
9:129376726 LMX1B C>T	9	129376726	129376726	C	T	LMX1B	c.-3C>T	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129376726C>T	(Likely) benign	1 lab	c531f14624
6:43488771 POLR1C C>T	6	43488771	43488771	C	T	POLR1C	c.907C>T	NM_203290.4	NP_976035.1:p.(Arg303Ter)	NC_000006.11:g.43488771C>T	(Likely) pathogenic	1 lab	c535fb5098
7:107330653 SLC26A4 G>A	7	107330653	107330653	G	A	SLC26A4	c.1234G>A	NM_000441.1	NP_000432.1:p.(Val412Ile)	NC_000007.13:g.107330653G>A	VUS	1 lab	c53606cdeb
2:179621348 TTN T>C	2	179621348	179621348	T	C	TTN	c.10855A>G	NM_001267550.2	NP_001254479.2:p.(Ser3619Gly)	NC_000002.11:g.179621348T>C	(Likely) benign	1 lab	c53afe9b05
5:149357625 SLC26A2 C>T	5	149357625	149357625	C	T	SLC26A2	c.410C>T	NM_000112.4	NP_000103.2:p.(Pro137Leu)	NC_000005.9:g.149357625C>T	VUS	1 lab	c53b8ca37d
7:151292394 PRKAG2 A>AT	7	151292394	151292395	A	AT	PRKAG2	c.864+36_864+37insA	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151292394_151292395insT	(Likely) benign	1 lab	c53c86181d
X:107815078 COL4A5 C>T	X	107815078	107815078	C	T	COL4A5	c.465+11C>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107815078C>T	(Likely) benign	1 lab	c53dbbd1ee
2:179406304 TTN A>G	2	179406304	179406304	A	G	TTN	c.97500T>C	NM_001267550.2	NP_001254479.2:p.(Pro32500=)	NC_000002.11:g.179406304A>G	(Likely) benign	1 lab	c53eb1e10d
3:11060369 SLC6A1 C>A	3	11060369	11060369	C	A	SLC6A1				NC_000003.11:g.11060369C>A	(Likely) pathogenic	1 lab	c542b328b4
6:45405728 RUNX2 C>T	6	45405728	45405728	C	T	RUNX2	c.625C>T	NM_001024630.4	NP_001019801.3:p.(Gln209Ter)	NC_000006.11:g.45405728C>T	(Likely) pathogenic	1 lab	c543635246
2:179644024 TTN T>A	2	179644024	179644024	T	A	TTN	c.3895A>T	NM_001267550.2	NP_001254479.2:p.(Asn1299Tyr)	NC_000002.11:g.179644024T>A	VUS	1 lab	c5444ea4f8
6:31915580 CFB G>A	6	31915580	31915580	G	A	CFB	c.720G>A	NM_001710.6	NP_001701.2:p.(Glu240=)	NC_000006.11:g.31915580G>A	(Likely) benign	1 lab	c545fcf2f6
7:69064820 AUTS2 A>T	7	69064820	69064820	A	T	AUTS2	c.181A>T	NM_015570.3	NP_056385.1:p.(Lys61Ter)	NC_000007.13:g.69064820A>T	(Likely) pathogenic	1 lab	c547ad362b
5:89971191 ADGRV1 G>T	5	89971191	89971191	G	T	ADGRV1	c.5242G>T	NM_032119.3	NP_115495.3:p.(Gly1748Ter)	NC_000005.9:g.89971191G>T	(Likely) pathogenic	1 lab	c5480b3708
3:38781128 SCN10A C>T	3	38781128	38781128	C	T	SCN10A	c.2158G>A	NM_006514.3	NP_006505.3:p.(Asp720Asn)	NC_000003.11:g.38781128C>T	VUS	1 lab	c54aa992e1
8:144809013 SACK1H G>T	8	144809013	144809013	G	T	SACK1H	c.2618C>A	NM_198488.3	NP_940890.3:p.(Ser873Ter)	NC_000008.10:g.144809013G>T	VUS	1 lab	c54de3f40c
X:47488905 CFP C>G	X	47488905	47488905	C	G	CFP	c.227+18G>C	NM_002621.2	NP_002612.1:p.?	NC_000023.10:g.47488905C>G	(Likely) benign	1 lab	c5500d673f
2:179637829 TTN T>C	2	179637829	179637829	T	C	TTN	c.7855+7A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179637829T>C	(Likely) benign	1 lab	c550344222
1:216498882 USH2A C>T	1	216498882	216498882	C	T	USH2A	c.908G>A	NM_206933.2	NP_996816.2:p.(Arg303His)	NC_000001.10:g.216498882C>T	VUS	1 lab	c554b677e2
12:114793621 TBX5 G>T	12	114793621	114793621	G	T	TBX5	c.1273C>A	NM_000192.3	NP_000183.2:p.(His425Asn)	NC_000012.11:g.114793621G>T	VUS	1 lab	c555c3a6ed
7:154677338 MISSING T>G	7	154677338	154677338	T	G	MISSING				NC_000007.13:g.154677338T>G	(Likely) benign	1 lab	c5573ece4c
17:62019037 SCN4A C>T	17	62019037	62019037	C	T	SCN4A	c.4605G>A	NM_000334.4	NP_000325.4:p.(Ser1535=)	NC_000017.10:g.62019037C>T	(Likely) benign	1 lab	c55a34fa90
19:49675266 TRPM4 G>A	19	49675266	49675266	G	A	TRPM4	c.1051G>A	NM_017636.3	NP_060106.2:p.(Val351Met)	NC_000019.9:g.49675266G>A	VUS	1 lab	c55b438470
12:110353234 TCHP G>A	12	110353234	110353234	G	A	TCHP	c.1347G>A	NM_032300.4	NP_115676.1:p.(Trp449Ter)	NC_000012.11:g.110353234G>A	VUS	1 lab	c55d5aeb32
X:8503631 ANOS1 C>T	X	8503631	8503631	C	T	ANOS1	c.1842+1G>A	NM_000216.2	NP_000207.2:p.?	NC_000023.10:g.8503631C>T	(Likely) pathogenic	1 lab	c55e5128d7
6:26091699 HFE G>C	6	26091699	26091699	G	C	HFE	c.498G>C	NM_000410.3	NP_000401.1:p.(Lys166Asn)	NC_000006.11:g.26091699G>C	(Likely) pathogenic	1 lab	c5658eea27
12:402215 KDM5A C>A	12	402215	402215	C	A	KDM5A	c.4576G>T	NM_001042603.3	NP_001036068.1:p.(Glu1526Ter)	NC_000012.11:g.402215C>A	VUS	1 lab	c56b08312e
10:50819978 SLC18A3 G>C	10	50819978	50819978	G	C	SLC18A3	c.1192G>C	NM_003055.2	NP_003046.2:p.(Asp398His)	NC_000010.10:g.50819978G>C	VUS	1 lab	c56bd5e833
1:45797828 MUTYH G>A	1	45797828	45797828	G	A	MUTYH	c.933+10C>T	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45797828G>A	(Likely) benign	1 lab	c56c5fa4a9
8:145583636 SLC52A2 G>A	8	145583636	145583636	G	A	SLC52A2	c.484G>A	NM_024531.5	NP_078807.1:p.(Ala162Thr)	NC_000008.10:g.145583636G>A	(Likely) pathogenic	1 lab	c56c6e6d5c
6:39902170 MOCS1 A>G	6	39902170	39902170	A	G	MOCS1	c.-14T>C	NM_001075098.4	NP_001068566.1:p.?	NC_000006.11:g.39902170A>G	(Likely) benign	1 lab	0fda23086c
19:36339952 NPHS1 G>A	19	36339952	36339952	G	A	NPHS1	c.938C>T	NM_004646.3	NP_004637.1:p.(Ala313Val)	NC_000019.9:g.36339952G>A	VUS	1 lab	1347903690
7:140494163 BRAF C>T	7	140494163	140494163	C	T	BRAF	c.1085G>A	NM_004333.4	NP_004324.2:p.(Arg362Gln)	NC_000007.13:g.140494163C>T	(Likely) pathogenic	1 lab	c5706b044b
17:17118312 FLCN CCTT>C	17	17118312	17118315	CCTT	C	FLCN	c.1522_1524del	NM_144997.7	NP_659434.2:p.(Lys508del)	NC_000017.10:g.17118313_17118315del	(Likely) pathogenic	1 lab	c571c2fe63
17:41209182 BRCA1 A>G	17	41209182	41209182	A	G	BRCA1	c.5194-30T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41209182A>G	(Likely) benign	1 lab	c573b78dac
1:161284189 SDHC A>C	1	161284189	161284189	A	C	SDHC	c.-7A>C	NM_003001.3	NP_002992.1:p.?	NC_000001.10:g.161284189A>C	(Likely) benign	1 lab	c574017dfd
18:19752211 GATA6 C>G	18	19752211	19752211	C	G	GATA6	c.1106C>G	NM_005257.4	NP_005248.2:p.(Pro369Arg)	NC_000018.9:g.19752211C>G	VUS	1 lab	c578294857
16:68729785 CDH3 C>A	16	68729785	68729785	C	A	CDH3	c.2239C>A	NM_001793.4	NP_001784.2:p.(Arg747=)	NC_000016.9:g.68729785C>A	(Likely) benign	1 lab	c57e39d77a
1:120493438 NOTCH2 A>T	1	120493438	120493438	A	T	NOTCH2	c.2388T>A	NM_024408.3	NP_077719.2:p.(Ile796=)	NC_000001.10:g.120493438A>T	(Likely) benign	1 lab	c580e647d7
2:179417593 TTN C>T	2	179417593	179417593	C	T	TTN	c.90034G>A	NM_001267550.2	NP_001254479.2:p.(Glu30012Lys)	NC_000002.11:g.179417593C>T	VUS	1 lab	c581e46398
8:106813976 ZFPM2 A>T	8	106813976	106813976	A	T	ZFPM2	c.1666A>T	NM_012082.4	NP_036214.2:p.(Thr556Ser)	NC_000008.10:g.106813976A>T	VUS	1 lab	0fdcb04d83
15:63354937 TPM1 ACGC>A	15	63354937	63354940	ACGC	A	TPM1	c.772+94_772+96del	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63354938_63354940del	(Likely) benign	1 lab	c58b105829
9:138676350 KCNT1 T>C	9	138676350	138676350	T	C	KCNT1	c.2944-31T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138676350T>C	(Likely) benign	1 lab	134bdfb184
16:3708192 TRAP1 C>T	16	3708192	3708192	C	T	TRAP1	c.2053G>A	NM_016292.3	NP_057376.2:p.(Asp685Asn)	NC_000016.9:g.3708192C>T	(Likely) benign	1 lab	134c909832
6:7247097 RREB1 C>G	6	7247097	7247097	C	G	RREB1	c.4414C>G	NM_001003699.4	NP_001003699.1:p.(Arg1472Gly)	NC_000006.11:g.7247097C>G	VUS	1 lab	0fdf9a2b01
19:39006714 RYR1 C>T	19	39006714	39006714	C	T	RYR1	c.9555-13C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39006714C>T	(Likely) benign	1 lab	c591cd6ca3
1:179520603 NPHS2 G>A	1	179520603	179520603	G	A	NPHS2	c.874-17C>T	NM_014625.2	NP_055440.1:p.?	NC_000001.10:g.179520603G>A	(Likely) benign	1 lab	c593d0f3e5
11:108218092 ATM G>A	11	108218092	108218092	G	A	ATM	c.8671G>A	NM_000051.4	NP_000042.3:p.(Gly2891Ser)	NC_000011.9:g.108218092G>A	VUS	1 lab	0fdfee8fbd
4:15985984 PROM1 G>C	4	15985984	15985984	G	C	PROM1	c.2281-6C>G	NM_006017.2	NP_006008.1:p.?	NC_000004.11:g.15985984G>C	(Likely) benign	1 lab	c595c8b1a6
X:40982723 USP9X G>C	X	40982723	40982723	G	C	USP9X	c.-158-1G>C	NM_001039590.2	NP_001034679.2:p.?	NC_000023.10:g.40982723G>C	(Likely) pathogenic	1 lab	c5983f4b6f
2:227954647 COL4A4 C>T	2	227954647	227954647	C	T	COL4A4	c.1396G>A	NM_000092.4	NP_000083.3:p.(Gly466Arg)	NC_000002.11:g.227954647C>T	(Likely) pathogenic	1 lab	c59ae28bcc
22:41523642 EP300 G>A	22	41523642	41523642	G	A	EP300	c.1058G>A	NM_001429.3	NP_001420.2:p.(Arg353His)	NC_000022.10:g.41523642G>A	VUS	1 lab	c59bfaafbf
17:18039061 MYO15A C>T	17	18039061	18039061	C	T	MYO15A	c.4519C>T	NM_016239.3	NP_057323.3:p.(Arg1507Ter)	NC_000017.10:g.18039061C>T	(Likely) pathogenic	1 lab	c5a2229b5b
2:49247265 FSHR C>T	2	49247265	49247265	C	T	FSHR	c.259G>A	NM_000145.4	NP_000136.2:p.(Glu87Lys)	NC_000002.11:g.49247265C>T	VUS	1 lab	c5a3b9a2c1
12:116428971 MED13L C>T	12	116428971	116428971	C	T	MED13L	c.3788G>A	NM_015335.5	NP_056150.1:p.(Arg1263Gln)	NC_000012.11:g.116428971C>T	(Likely) benign	1 lab	0fe10c1d3f
13:32972674 BRCA2 G>T	13	32972674	32972674	G	T	BRCA2	c.10024G>T	NM_000059.3	NP_000050.2:p.(Glu3342Ter)	NC_000013.10:g.32972674G>T	VUS	1 lab	c5a70403ac
11:47367827 MYBPC3 C>T	11	47367827	47367827	C	T	MYBPC3	c.1021G>A	NM_000256.3	NP_000247.2:p.(Gly341Ser)	NC_000011.9:g.47367827C>T	(Likely) pathogenic	1 lab	c5a7c476b9
10:55568542 PCDH15 G>GC	10	55568542	55568546	G	GC	PCDH15	c.5282dup	NM_001142769.2	NP_001136241.1:p.(Tyr1762LeufsTer7)	NC_000010.10:g.55568546dup	VUS	1 lab	c5a7e65414
14:100743860 YY1 T>G	14	100743860	100743860	T	G	YY1				NC_000014.8:g.100743860T>G	VUS	1 lab	c5aa169b44
3:38739878 SCN10A C>T	3	38739878	38739878	C	T	SCN10A	c.4833G>A	NM_006514.3	NP_006505.3:p.(Gly1611=)	NC_000003.11:g.38739878C>T	(Likely) benign	1 lab	c5aa67634c
3:48604016 COL7A1 C>G	3	48604016	48604016	C	G	COL7A1	c.8305-20G>C	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48604016C>G	(Likely) benign	1 lab	c5b44da640
12:6128067 VWF G>A	12	6128067	6128067	G	A	VWF	c.4517C>T	NM_000552.5	NP_000543.3:p.(Ser1506Leu)	NC_000012.11:g.6128067G>A	(Likely) pathogenic	1 lab	c5b4e3291e
3:48625766 COL7A1 A>C	3	48625766	48625766	A	C	COL7A1	c.2659T>G	NM_000094.3	NP_000085.1:p.(Trp887Gly)	NC_000003.11:g.48625766A>C	VUS	1 lab	c5b94b8f04
2:110886837 NPHP1 C>G	2	110886837	110886837	C	G	NPHP1	c.1811-1G>C	NM_000272.3	NP_000263.2:p.?	NC_000002.11:g.110886837C>G	(Likely) pathogenic	1 lab	c5b9935e29
16:8995052 USP7 G>A	16	8995052	8995052	G	A	USP7	c.2087C>T	NM_003470.3	NP_003461.2:p.(Thr696Met)	NC_000016.9:g.8995052G>A	VUS	1 lab	c5bc86f412
2:179642533 TTN C>T	2	179642533	179642533	C	T	TTN	c.4378G>A	NM_001267550.2	NP_001254479.2:p.(Val1460Met)	NC_000002.11:g.179642533C>T	VUS	1 lab	c5bd3031c5
8:141554341 AGO2 C>T	8	141554341	141554341	C	T	AGO2	c.1810G>A	NM_012154.3	NP_036286.2:p.(Gly604Arg)	NC_000008.10:g.141554341C>T	(Likely) pathogenic	1 lab	c5be16253b
1:104089624 RNPC3 A>G	1	104089624	104089624	A	G	RNPC3	c.1328A>G	NM_017619.4	NP_060089.1:p.(Tyr443Cys)	NC_000001.10:g.104089624A>G	(Likely) pathogenic	1 lab	c5c0503be9
X:53265677 IQSEC2 G>T	X	53265677	53265677	G	T	IQSEC2	c.3278C>A	NM_001111125.2	NP_001104595.1:p.(Ser1093Ter)	NC_000023.10:g.53265677G>T	(Likely) pathogenic	1 lab	c5c4e8d973
7:2854547 GNA12 A>G	7	2854547	2854547	A	G	GNA12	c.18T>C	NM_001282441.2	NP_001269370.1:p.(Phe6=)	NC_000007.13:g.2854547A>G	(Likely) benign	1 lab	1353d07abb
11:110134896 RDX G>C	11	110134896	110134896	G	C	RDX	c.256C>G	NM_002906.3	NP_002897.1:p.(Pro86Ala)	NC_000011.9:g.110134896G>C	VUS	1 lab	c5c5a32d44
1:103471824 COL11A1 T>A	1	103471824	103471824	T	A	COL11A1	c.1731A>T	NM_001854.3	NP_001845.3:p.(Gly577=)	NC_000001.10:g.103471824T>A	VUS	1 lab	c5c6514783
14:23882242 MYH7 T>G	14	23882242	23882242	T	G	MYH7	c.5791-162A>C	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23882242T>G	(Likely) benign	1 lab	c5c842fccc
11:2189126 TH A>G	11	2189126	2189126	A	G	TH	c.707T>C	NM_199292.2	NP_954986.2:p.(Leu236Pro)	NC_000011.9:g.2189126A>G	(Likely) pathogenic	1 lab	c5c8be523c
1:236918379 ACTN2 A>C	1	236918379	236918379	A	C	ACTN2	c.2035A>C	NM_001103.4	NP_001094.1:p.(Lys679Gln)	NC_000001.10:g.236918379A>C	VUS	1 lab	0fe63ab42b
20:44642406 MMP9 G>C	20	44642406	44642406	G	C	MMP9	c.1721G>C	NM_004994.3	NP_004985.2:p.(Arg574Pro)	NC_000020.10:g.44642406G>C	(Likely) benign	1 lab	0febe88469
2:213921685 IKZF2 T>C	2	213921685	213921685	T	C	IKZF2	c.278A>G	NM_001387220.1	NP_001374149.1:p.(Asn93Ser)	NC_000002.11:g.213921685T>C	(Likely) benign	1 lab	c5cef5d99a
9:2718419 KCNV2 A>T	9	2718419	2718419	A	T	KCNV2	c.680A>T	NM_133497.3	NP_598004.1:p.(Glu227Val)	NC_000009.11:g.2718419A>T	VUS	1 lab	c5d9e16ed3
7:143021520 CLCN1 AC>A	7	143021520	143021521	AC	A	CLCN1	c.789del	NM_000083.3	NP_000074.3:p.(Ser264LeufsTer4)	NC_000007.13:g.143021521del	(Likely) pathogenic	1 lab	c5dc11a98c
11:76227051 EMSY A>G	11	76227051	76227051	A	G	EMSY	c.1559-135A>G	NM_001300942.2	NP_001287871.1:p.?	NC_000011.9:g.76227051A>G	(Likely) pathogenic	1 lab	c5dc53889f
12:112688776 HECTD4 T>C	12	112688776	112688776	T	C	HECTD4	c.3715A>G	NM_001388303.1	NP_001375232.1:p.(Arg1239Gly)	NC_000012.11:g.112688776T>C	VUS	1 lab	c5df33f586
7:87079306 ABCB4 C>T	7	87079306	87079306	C	T	ABCB4	c.811G>A	NM_018849.2	NP_061337.1:p.(Gly271Ser)	NC_000007.13:g.87079306C>T	VUS	1 lab	c5dfdd56f4
19:6684853 C3 G>A	19	6684853	6684853	G	A	C3	c.3970-8C>T	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6684853G>A	(Likely) benign	1 lab	c5dfea63af
X:153295997 MECP2 C>T	X	153295997	153295997	C	T	MECP2	c.1282G>A	NM_004992.3	NP_004983.1:p.(Gly428Ser)	NC_000023.10:g.153295997C>T	(Likely) benign	1 lab	13546064b4
1:209963052 IRF6 G>T	1	209963052	209963052	G	T	IRF6	c.1139C>A	NM_006147.3	NP_006138.1:p.(Pro380Gln)	NC_000001.10:g.209963052G>T	(Likely) pathogenic	1 lab	c5e39cf8b2
14:64701777 ESR2 C>A	14	64701777	64701777	C	A	ESR2	c.1317G>T	NM_001437.2	NP_001428.1:p.(Trp439Cys)	NC_000014.8:g.64701777C>A	VUS	1 lab	c5e3ba93fe
4:77662160 SHROOM3 A>T	4	77662160	77662160	A	T	SHROOM3	c.2834A>T	NM_020859.3	NP_065910.3:p.(Asp945Val)	NC_000004.11:g.77662160A>T	VUS	1 lab	c5e4a30026
11:108106326 ATM A>G	11	108106326	108106326	A	G	ATM	c.332-71A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108106326A>G	(Likely) benign	1 lab	13575f8282
10:112572309 RBM20 G>C	10	112572309	112572309	G	C	RBM20	c.2154G>C	NM_001134363.2	NP_001127835.2:p.(Leu718=)	NC_000010.10:g.112572309G>C	(Likely) benign	1 lab	c5eac1c8e8
1:22986015 C1QB C>A	1	22986015	22986015	C	A	C1QB	c.66C>A	NM_000491.3	NP_000482.3:p.(Ile22=)	NC_000001.10:g.22986015C>A	(Likely) benign	1 lab	1507d6bb5f
4:72412077 SLC4A4 G>A	4	72412077	72412077	G	A	SLC4A4	c.2453G>A	NM_001098484.2	NP_001091954.1:p.(Gly818Glu)	NC_000004.11:g.72412077G>A	VUS	1 lab	c5f82a7b75
2:179454474 TTN T>C	2	179454474	179454474	T	C	TTN	c.61978A>G	NM_001267550.2	NP_001254479.2:p.(Ile20660Val)	NC_000002.11:g.179454474T>C	VUS	1 lab	c5f9b99fbc
19:54395899 PRKCG T>TG	19	54395899	54395900	T	TG	PRKCG	c.821+3dup	NM_001316329.1	NP_001303258.1:p.?	NC_000019.9:g.54395900dup	VUS	1 lab	c5fa220835
17:33428211 RAD51D C>T	17	33428211	33428211	C	T	RAD51D	c.903+9G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33428211C>T	(Likely) benign	1 lab	c5fa2a0c6b
8:100654783 VPS13B C>A	8	100654783	100654783	C	A	VPS13B	c.5983+57C>A	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100654783C>A	(Likely) benign	1 lab	135bca2859
2:190426701 SLC40A1 C>T	2	190426701	190426701	C	T	SLC40A1	c.1619G>A	NM_014585.6	NP_055400.1:p.(Arg540Gln)	NC_000002.11:g.190426701C>T	VUS	1 lab	c5fa8ddc7a
22:37466571 TMPRSS6 G>A	22	37466571	37466571	G	A	TMPRSS6	c.1821C>T	NM_153609.3	NP_705837.1:p.(Ile607=)	NC_000022.10:g.37466571G>A	(Likely) benign	1 lab	c5fb00f7fc
4:6303924 WFS1 A>G	4	6303924	6303924	A	G	WFS1				NC_000004.11:g.6303924A>G	VUS	1 lab	c6006926a3
X:18606075 CDKL5 G>C	X	18606075	18606075	G	C	CDKL5	c.556G>C	NM_001037343.2	NP_001032420.1:p.(Ala186Pro)	NC_000023.10:g.18606075G>C	VUS	1 lab	c60216a49c
14:23895237 MYH7 C>CCAGCACACCATTG	14	23895237	23895254	C	CCAGCACACCATTG	MYH7	c.2085_2097dup	NM_000257.4	NP_000248.2:p.(Glu700GlnfsTer37)	NC_000014.8:g.23895242_23895254dup	(Likely) pathogenic	1 lab	0fef7506bf
7:158534381 MISSING G>C	7	158534381	158534381	G	C	MISSING				NC_000007.13:g.158534381G>C	(Likely) benign	1 lab	c60808ec1a
20:42744485 JPH2 T>G	20	42744485	42744485	T	G	JPH2	c.1830A>C	NM_020433.4	NP_065166.2:p.(Arg610=)	NC_000020.10:g.42744485T>G	(Likely) benign	1 lab	c6087f4c61
12:133214615 POLE T>G	12	133214615	133214615	T	G	POLE	c.5663A>C	NM_006231.3	NP_006222.2:p.(Glu1888Ala)	NC_000012.11:g.133214615T>G	VUS	1 lab	135bf5c091
3:123018992 ADCY5 C>T	3	123018992	123018992	C	T	ADCY5	c.2875G>A	NM_183357.3	NP_899200.1:p.(Asp959Asn)	NC_000003.11:g.123018992C>T	VUS	1 lab	0ff2d70c7a
6:79728824 PHIP A>G	6	79728824	79728824	A	G	PHIP	c.976T>C	NM_017934.5	NP_060404.3:p.(Cys326Arg)	NC_000006.11:g.79728824A>G	(Likely) pathogenic	1 lab	c60cc756fe
16:2163188 PKD1 G>A	16	2163188	2163188	G	A	PKD1	c.2959C>T	NM_001009944.3	NP_001009944.3:p.(Gln987Ter)	NC_000016.9:g.2163188G>A	(Likely) pathogenic	1 lab	c60decbe38
15:57976583 MYZAP A>C	15	57976583	57976583	A	C	MYZAP	c.1305-17A>C	NM_001018100.5	NP_001018110.1:p.?	NC_000015.9:g.57976583A>C	(Likely) benign	1 lab	0ff799cc79
12:88456449 CEP290 T>A	12	88456449	88456449	T	A	CEP290	c.6357+20A>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88456449T>A	(Likely) benign	1 lab	c610a6a92f
3:38888437 SCN11A T>C	3	38888437	38888437	T	C	SCN11A	c.5124A>G	NM_014139.2	NP_054858.2:p.(Glu1708=)	NC_000003.11:g.38888437T>C	(Likely) benign	1 lab	c6166f64ee
11:66287067 BBS1 A>T	11	66287067	66287067	A	T	BBS1	c.592-21A>T	NM_024649.4	NP_078925.3:p.?	NC_000011.9:g.66287067A>T	(Likely) pathogenic	1 lab	c6193acf51
7:128484088 FLNC C>G	7	128484088	128484088	C	G	FLNC	c.2960C>G	NM_001458.5	NP_001449.3:p.(Ser987Cys)	NC_000007.13:g.128484088C>G	(Likely) benign	1 lab	c61df626a5
1:216595435 USH2A G>A	1	216595435	216595435	G	A	USH2A	c.244C>T	NM_206933.2	NP_996816.2:p.(Arg82Trp)	NC_000001.10:g.216595435G>A	VUS	1 lab	c61ff466d4
15:57953655 MYZAP C>CA	15	57953655	57953656	C	CA	MYZAP	c.1128dup	NM_001018100.5	NP_001018110.1:p.(Leu377IlefsTer27)	NC_000015.9:g.57953656dup	VUS	1 lab	0ff9f3c126
9:130588137 ENG G>A	9	130588137	130588137	G	A	ENG	c.526C>T	NM_000118.3	NP_000109.1:p.(Gln176Ter)	NC_000009.11:g.130588137G>A	(Likely) pathogenic	1 lab	135d6275b7
1:241671921 FH A>G	1	241671921	241671921	A	G	FH	c.720T>C	NM_000143.3	NP_000134.2:p.(Val240=)	NC_000001.10:g.241671921A>G	(Likely) benign	1 lab	c626370e96
1:46658068 POMGNT1 C>T	1	46658068	46658068	C	T	POMGNT1				NC_000001.10:g.46658068C>T	(Likely) pathogenic	1 lab	c6277f709f
12:48378803 COL2A1 C>T	12	48378803	48378803	C	T	COL2A1	c.1808G>A	NM_001844.5	NP_001835.3:p.(Gly603Asp)	NC_000012.11:g.48378803C>T	(Likely) pathogenic	1 lab	c627e58482
10:102782122 PDZD7 C>T	10	102782122	102782122	C	T	PDZD7	c.563G>A	NM_001195263.1	NP_001182192.1:p.(Arg188His)	NC_000010.10:g.102782122C>T	VUS	1 lab	c627e61135
4:15572102 CC2D2A A>G	4	15572102	15572102	A	G	CC2D2A	c.3577A>G	NM_001080522.2	NP_001073991.2:p.(Ile1193Val)	NC_000004.11:g.15572102A>G	VUS	1 lab	c62a83c707
1:5927908 NPHP4 T>G	1	5927908	5927908	T	G	NPHP4				NC_000001.10:g.5927908T>G	(Likely) pathogenic	1 lab	c62b11f991
3:45518073 LARS2 C>A	3	45518073	45518073	C	A	LARS2	c.972C>A	NM_015340.3	NP_056155.1:p.(His324Gln)	NC_000003.11:g.45518073C>A	(Likely) benign	1 lab	c62c1ee568
1:1737964 GNB1 C>T	1	1737964	1737964	C	T	GNB1	c.217G>A	NM_002074.5	NP_002065.1:p.(Ala73Thr)	NC_000001.10:g.1737964C>T	(Likely) pathogenic	1 lab	c62d5a90c2
5:1253892 TERT G>C	5	1253892	1253892	G	C	TERT	c.3350C>G	NM_198253.2	NP_937983.2:p.(Ala1117Gly)	NC_000005.9:g.1253892G>C	VUS	1 lab	c631152d1a
19:50919759 POLD1 A>T	19	50919759	50919759	A	T	POLD1	c.2927A>T	NM_002691.4	NP_002682.2:p.(Glu976Val)	NC_000019.9:g.50919759A>T	VUS	1 lab	c632b31885
8:100847808 VPS13B G>A	8	100847808	100847808	G	A	VPS13B	c.9859G>A	NM_017890.5	NP_060360.3:p.(Glu3287Lys)	NC_000008.10:g.100847808G>A	VUS	1 lab	0ffa4b1cc3
3:148930222 CP C>T	3	148930222	148930222	C	T	CP	c.394+16G>A	NM_000096.3	NP_000087.1:p.?	NC_000003.11:g.148930222C>T	(Likely) benign	1 lab	c6387d727c
4:187530484 FAT1 A>G	4	187530484	187530484	A	G	FAT1	c.10069-10T>C	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187530484A>G	(Likely) benign	1 lab	135e226b61
X:21534511 CNKSR2 T>C	X	21534511	21534511	T	C	CNKSR2	c.811-92T>C	NM_014927.5	NP_055742.2:p.?	NC_000023.10:g.21534511T>C	(Likely) benign	1 lab	135fbd8d51
X:7175630 STS G>T	X	7175630	7175630	G	T	STS	c.382+1G>T	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7175630G>T	(Likely) pathogenic	1 lab	c63df236ba
3:43602714 ANO10 A>G	3	43602714	43602714	A	G	ANO10	c.1474T>C	NM_001204831.3	NP_001191760.1:p.(Leu492=)	NC_000003.11:g.43602714A>G	(Likely) benign	1 lab	1004a18ab9
12:80816492 MISSING C>T	12	80816492	80816492	C	T	MISSING				NC_000012.11:g.80816492C>T	(Likely) benign	1 lab	c63ec6f1ec
21:47421960 COL6A1 T>C	21	47421960	47421960	T	C	COL6A1	c.2042T>C	NM_001848.2	NP_001839.2:p.(Ile681Thr)	NC_000021.8:g.47421960T>C	(Likely) benign	1 lab	c63f0311af
4:85715882 WDFY3 ATCTT>A	4	85715882	85715888	ATCTT	A	WDFY3	c.3273_3276del	NM_014991.6	NP_055806.2:p.(Glu1091AspfsTer9)	NC_000004.11:g.85715885_85715888del	(Likely) pathogenic	1 lab	c6408ed2f4
20:42788829 JPH2 A>G	20	42788829	42788829	A	G	JPH2	c.598T>C	NM_020433.4	NP_065166.2:p.(Phe200Leu)	NC_000020.10:g.42788829A>G	(Likely) benign	1 lab	c641e408bb
1:207933047 CD46 C>T	1	207933047	207933047	C	T	CD46	c.453C>T	NM_002389.4	NP_002380.3:p.(Ser151=)	NC_000001.10:g.207933047C>T	(Likely) benign	1 lab	c642934069
22:50962264 NCAPH2 C>T	22	50962264	50962264	C	T	NCAPH2				NC_000022.10:g.50962264C>T	(Likely) pathogenic	1 lab	c64376a0ae
15:28273126 OCA2 G>A	15	28273126	28273126	G	A	OCA2	c.406C>T	NM_000275.2	NP_000266.2:p.(Arg136Ter)	NC_000015.9:g.28273126G>A	(Likely) pathogenic	1 lab	c644ae1391
2:39262442 SOS1 C>T	2	39262442	39262442	C	T	SOS1	c.985G>A	NM_005633.3	NP_005624.2:p.(Glu329Lys)	NC_000002.11:g.39262442C>T	VUS	1 lab	c645b8e66c
5:110096994 SLC25A46 C>T	5	110096994	110096994	C	T	SLC25A46	c.769C>T	NM_138773.4	NP_620128.1:p.(Arg257Ter)	NC_000005.9:g.110096994C>T	(Likely) pathogenic	1 lab	c646ef819a
21:47541480 COL6A2 G>A	21	47541480	47541480	G	A	COL6A2	c.1469G>A	NM_001849.3	NP_001840.3:p.(Gly490Glu)	NC_000021.8:g.47541480G>A	VUS	1 lab	c647af7eb4
17:41256963 BRCA1 C>A	17	41256963	41256963	C	A	BRCA1	c.223G>T	NM_007294.3	NP_009225.1:p.(Glu75Ter)	NC_000017.10:g.41256963C>A	(Likely) pathogenic	1 lab	c648cc92fe
3:193385075 OPA1 T>C	3	193385075	193385075	T	C	OPA1	c.2983+6T>C	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193385075T>C	(Likely) pathogenic	1 lab	c64cdc6604
X:153608048 EMD A>G	X	153608048	153608048	A	G	EMD	c.83-2A>G	NM_000117.3	NP_000108.1:p.?	NC_000023.10:g.153608048A>G	(Likely) pathogenic	1 lab	c6505f5131
17:18022572 MYO15A A>G	17	18022572	18022572	A	G	MYO15A	c.458A>G	NM_016239.4	NP_057323.3:p.(Gln153Arg)	NC_000017.10:g.18022572A>G	VUS	1 lab	c6534c07e2
17:59858335 BRIP1 G>C	17	59858335	59858335	G	C	BRIP1	c.1660C>G	NM_032043.3	NP_114432.2:p.(Gln554Glu)	NC_000017.10:g.59858335G>C	(Likely) benign	1 lab	c654dd5e46
3:18436063 SATB1 G>A	3	18436063	18436063	G	A	SATB1	c.1097C>T	NM_001195470.3	NP_001182399.1:p.(Ser366Leu)	NC_000003.11:g.18436063G>A	(Likely) benign	1 lab	1007038860
2:179569111 TTN G>A	2	179569111	179569111	G	A	TTN	c.26254C>T	NM_133378.4	NP_596869.4:p.(Gln8752Ter)	NC_000002.11:g.179569111G>A	(Likely) pathogenic	1 lab	c65fad1010
4:187628288 FAT1 C>G	4	187628288	187628288	C	G	FAT1	c.2694G>C	NM_005245.4	NP_005236.2:p.(Arg898Ser)	NC_000004.11:g.187628288C>G	VUS	1 lab	c661f64053
6:32006975 CYP21A2 C>T	6	32006975	32006975	C	T	CYP21A2	c.397C>T	NM_000500.9	NP_000491.4:p.(Arg133Cys)	NC_000006.11:g.32006975C>T	(Likely) pathogenic	1 lab	1007ef878f
3:70014447 MITF T>C	3	70014447	70014447	T	C	MITF	c.*48T>C	NM_000248.3	NP_000239.1:p.?	NC_000003.11:g.70014447T>C	(Likely) benign	1 lab	c66804d4cc
17:62019278 SCN4A A>G	17	62019278	62019278	A	G	SCN4A	c.4364T>C	NM_000334.4	NP_000325.4:p.(Ile1455Thr)	NC_000017.10:g.62019278A>G	VUS	1 lab	c66adedcb1
5:148396277 SH3TC2 A>G	5	148396277	148396277	A	G	SH3TC2	c.3054-3980T>C	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148396277A>G	(Likely) benign	1 lab	136ce13bb5
17:6596497 SLC13A5 AACACACACACACACAC>A	17	6596497	6596549	AACACACACACACACAC	A	SLC13A5	c.1157-32_1157-17del	NM_177550.5	NP_808218.1:p.?	NC_000017.10:g.6596534_6596549del	(Likely) benign	1 lab	137383668e
4:111539443 PITX2 G>A	4	111539443	111539443	G	A	PITX2	c.813C>T	NM_000325.5	NP_000316.2:p.(Tyr271=)	NC_000004.11:g.111539443G>A	(Likely) benign	1 lab	c670e4c6b6
13:32913023 BRCA2 GA>G	13	32913023	32913025	GA	G	BRCA2	c.4533del	NM_000059.4	NP_000050.3:p.(Glu1511AspfsTer32)	NC_000013.10:g.32913025del	(Likely) pathogenic	1 lab	100a06eb86
6:33160217 COL11A2 C>T	6	33160217	33160217	C	T	COL11A2	c.-200G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33160217C>T	(Likely) benign	1 lab	c673419e50
2:48010648 MSH6 T>C	2	48010648	48010648	T	C	MSH6	c.260+16T>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48010648T>C	(Likely) benign	1 lab	c673ba209d
2:175994873 ATF2 C>T	2	175994873	175994873	C	T	ATF2				NC_000002.11:g.175994873C>T	VUS	1 lab	c67412d5e7
2:152355811 NEB C>T	2	152355811	152355811	C	T	NEB	c.24219+1G>A	NM_001271208.2	NP_001258137.2:p.?	NC_000002.11:g.152355811C>T	VUS	1 lab	c67848b541
6:112537620 LAMA4 G>A	6	112537620	112537620	G	A	LAMA4	c.246C>T	NM_001105206.2	NP_001098676.2:p.(Cys82=)	NC_000006.11:g.112537620G>A	(Likely) benign	1 lab	c67878ff17
1:94495021 ABCA4 C>T	1	94495021	94495021	C	T	ABCA4	c.4519G>A	NM_000350.2	NP_000341.2:p.(Gly1507Arg)	NC_000001.10:g.94495021C>T	(Likely) pathogenic	1 lab	c678ecdf1f
X:107909792 COL4A5 T>TTCC	X	107909792	107909796	T	TTCC	COL4A5	c.3523_3525dup	NM_033380.2	NP_203699.1:p.(Pro1175dup)	NC_000023.10:g.107909794_107909796dup	(Likely) pathogenic	1 lab	c67bc6f0a2
7:107301195 SLC26A4 G>A	7	107301195	107301195	G	A	SLC26A4	c.-109G>A	NM_000441.1	NP_000432.1:p.?	NC_000007.13:g.107301195G>A	VUS	1 lab	c67cfd5a43
20:62664208 PRPF6 G>T	20	62664208	62664208	G	T	PRPF6				NC_000020.10:g.62664208G>T	VUS	1 lab	c68102be33
2:74274914 TET3 G>A	2	74274914	74274914	G	A	TET3	c.1870G>A	NM_001287491.2	NP_001274420.1:p.(Val624Ile)	NC_000002.11:g.74274914G>A	VUS	1 lab	c6820c19b7
2:217332751 SMARCAL1 G>A	2	217332751	217332751	G	A	SMARCAL1	c.2226G>A	NM_014140.3	NP_054859.2:p.(Thr742=)	NC_000002.11:g.217332751G>A	(Likely) benign	1 lab	13742c4aed
15:72638575 HEXA C>G	15	72638575	72638575	C	G	HEXA	c.1421+1G>C	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72638575C>G	(Likely) pathogenic	1 lab	101002d011
1:155870304 RIT1 C>T	1	155870304	155870304	C	T	RIT1	c.586G>A	NM_001256821.1	NP_001243750.1:p.(Val196Ile)	NC_000001.10:g.155870304C>T	(Likely) benign	1 lab	c695a9120d
1:152281290 FLG A>G	1	152281290	152281290	A	G	FLG	c.6072T>C	NM_002016.1	NP_002007.1:p.(His2024=)	NC_000001.10:g.152281290A>G	(Likely) benign	1 lab	c69a57ca46
5:112173615 APC A>G	5	112173615	112173615	A	G	APC	c.2324A>G	NM_000038.6	NP_000029.2:p.(Asn775Ser)	NC_000005.9:g.112173615A>G	VUS	1 lab	c69d7ba5cb
12:6103650 VWF G>A	12	6103650	6103650	G	A	VWF	c.6187C>T	NM_000552.3	NP_000543.2:p.(Pro2063Ser)	NC_000012.11:g.6103650G>A	(Likely) benign	1 lab	c69ee3cecf
2:32370053 SPAST A>T	2	32370053	32370053	A	T	SPAST	c.1664A>T	NM_014946.4	NP_055761.2:p.(Asp555Val)	NC_000002.11:g.32370053A>T	VUS	1 lab	c6a0418124
6:10877387 GCM2 C>T	6	10877387	10877387	C	T	GCM2	c.329G>A	NM_004752.3	NP_004743.1:p.(Arg110Gln)	NC_000006.11:g.10877387C>T	VUS	1 lab	c6a0f42262
13:60240961 DIAPH3 C>T	13	60240961	60240961	C	T	DIAPH3	c.3339G>A	NM_001042517.1	NP_001035982.1:p.(Leu1113=)	NC_000013.10:g.60240961C>T	(Likely) benign	1 lab	c6a2f8edb0
1:53679229 CPT2 A>G	1	53679229	53679229	A	G	CPT2				NC_000001.10:g.53679229A>G	(Likely) benign	1 lab	c6a30d02f4
10:75758132 VCL G>A	10	75758132	75758132	G	A	VCL	c.167G>A	NM_014000.3	NP_054706.1:p.(Arg56Gln)	NC_000010.10:g.75758132G>A	VUS	1 lab	10110d22ec
10:89712020 PTEN A>G	10	89712020	89712020	A	G	PTEN	c.634+4A>G	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89712020A>G	(Likely) pathogenic	1 lab	c6a798ebc8
1:19441958 UBR4 G>A	1	19441958	19441958	G	A	UBR4	c.10997C>T	NM_020765.2	NP_065816.2:p.(Ser3666Leu)	NC_000001.10:g.19441958G>A	VUS	1 lab	c6aa5cdb3d
6:126080650 HEY2 G>A	6	126080650	126080650	G	A	HEY2	c.716G>A	NM_012259.2	NP_036391.1:p.(Arg239Gln)	NC_000006.11:g.126080650G>A	VUS	1 lab	c6ab5e7121
11:120983929 TECTA C>G	11	120983929	120983929	C	G	TECTA				NC_000011.9:g.120983929C>G	(Likely) benign	1 lab	c6ab93b450
19:10477206 TYK2 G>A	19	10477206	10477206	G	A	TYK2	c.516C>T	NM_003331.4	NP_003322.3:p.(Thr172=)	NC_000019.9:g.10477206G>A	(Likely) benign	1 lab	c6abc40f92
11:126295548 KIRREL3 CTCTT>C	11	126295548	126295555	CTCTT	C	KIRREL3	c.1874_1877del	NM_032531.4	NP_115920.1:p.(Lys625SerfsTer5)	NC_000011.9:g.126295552_126295555del	VUS	1 lab	c6ac72cdd1
6:33141920 COL11A2 G>C	6	33141920	33141920	G	C	COL11A2	c.2484+22C>G	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33141920G>C	(Likely) benign	1 lab	c6adcb602d
8:38326046 FGFR1 G>A	8	38326046	38326046	G	A	FGFR1	c.-636C>T	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38326046G>A	(Likely) benign	1 lab	c6b86b49bf
11:86662465 FZD4 T>G	11	86662465	86662465	T	G	FZD4				NC_000011.9:g.86662465T>G	(Likely) pathogenic	1 lab	c6b98da423
6:71009856 COL9A1 GA>G	6	71009856	71009858	GA	G	COL9A1	c.188del	NM_001851.6	NP_001842.3:p.(Phe63SerfsTer3)	NC_000006.11:g.71009858del	(Likely) pathogenic	1 lab	101404e9cc
11:2653584 KCNQ1OT1 G>A	11	2653584	2653584	G	A	KCNQ1OT1	n.67645C>T	NR_002728.3		NC_000011.9:g.2653584G>A	VUS	1 lab	10165dae39
16:57998068 CNGB1 G>A	16	57998068	57998068	G	A	CNGB1	c.256C>T	NM_001297.4	NP_001288.3:p.(Arg86Trp)	NC_000016.9:g.57998068G>A	(Likely) benign	1 lab	c6bd355d84
17:41246662 BRCA1 T>G	17	41246662	41246662	T	G	BRCA1	c.886A>C	NM_007294.3	NP_009225.1:p.(Arg296=)	NC_000017.10:g.41246662T>G	(Likely) benign	1 lab	c6bda9ce14
11:67223921 CABP4 A>C	11	67223921	67223921	A	C	CABP4	c.541+8A>C	NM_145200.3	NP_660201.1:p.?	NC_000011.9:g.67223921A>C	(Likely) benign	1 lab	c6bdf29180
2:179587014 TTN T>A	2	179587014	179587014	T	A	TTN	c.22500A>T	NM_001267550.2	NP_001254479.2:p.(Ala7500=)	NC_000002.11:g.179587014T>A	(Likely) benign	1 lab	c6be2c934b
X:71825113 PHKA1 T>C	X	71825113	71825113	T	C	PHKA1	c.2815+8A>G	NM_002637.3	NP_002628.2:p.?	NC_000023.10:g.71825113T>C	(Likely) benign	1 lab	c6bf1690d1
3:38523679 ACVR2B C>T	3	38523679	38523679	C	T	ACVR2B	c.1075-10C>T	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38523679C>T	VUS	1 lab	c6bfd46d7c
12:2791546 CACNA1C A>G	12	2791546	2791546	A	G	CACNA1C	c.5694-170A>G	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2791546A>G	(Likely) benign	1 lab	c6c1434bf7
6:52288817 EFHC1 G>A	6	52288817	52288817	G	A	EFHC1	c.137G>A	NM_018100.3	NP_060570.2:p.(Gly46Glu)	NC_000006.11:g.52288817G>A	VUS	1 lab	c6c1910147
2:179411544 TTN C>T	2	179411544	179411544	C	T	TTN	c.94611G>A	NM_001267550.2	NP_001254479.2:p.(Lys31537=)	NC_000002.11:g.179411544C>T	(Likely) benign	1 lab	c6c209f09c
3:133494354 TF C>T	3	133494354	133494354	C	T	TF	c.1765C>T	NM_001063.3	NP_001054.1:p.(Pro589Ser)	NC_000003.11:g.133494354C>T	(Likely) benign	1 lab	c6c24d9b92
9:75431076 TMC1 C>T	9	75431076	75431076	C	T	TMC1	c.1713C>T	NM_138691.2	NP_619636.2:p.(Phe571=)	NC_000009.11:g.75431076C>T	(Likely) benign	1 lab	c6cdfe0356
20:10386194 MKKS TGTCA>T	20	10386194	10386200	TGTCA	T	MKKS	c.1410_1413del	NM_018848.3	NP_061336.1:p.(Asp471Ter)	NC_000020.10:g.10386197_10386200del	(Likely) pathogenic	1 lab	c6ce6d0261
2:232071007 ARMC9 G>T	2	232071007	232071007	G	T	ARMC9	c.51+5G>T	NM_025139.5	NP_079415.3:p.?	NC_000002.11:g.232071007G>T	VUS	1 lab	c6d03f97ef
2:167269585 SCN7A G>T	2	167269585	167269585	G	T	SCN7A	c.3461C>A	NM_002976.4	NP_002967.2:p.(Ser1154Tyr)	NC_000002.11:g.167269585G>T	VUS	1 lab	c6d1730ca3
10:121429450 BAG3 C>T	10	121429450	121429450	C	T	BAG3	c.268C>T	NM_004281.4	NP_004272.2:p.(Arg90Ter)	NC_000010.10:g.121429450C>T	(Likely) pathogenic	1 lab	c6d519612b
22:38369706 SOX10 CTG>C	22	38369706	38369708	CTG	C	SOX10	c.1195_1196del	NM_006941.4	NP_008872.1:p.(Gln399ValfsTer2)	NC_000022.10:g.38369707_38369708del	(Likely) pathogenic	1 lab	c6d7a49b12
2:145147533 ZEB2 C>T	2	145147533	145147533	C	T	ZEB2	c.3130G>A	NM_014795.3	NP_055610.1:p.(Glu1044Lys)	NC_000002.11:g.145147533C>T	VUS	1 lab	c6e38f689f
6:65336143 EYS G>A	6	65336143	65336143	G	A	EYS	c.3444-5C>T	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65336143G>A	(Likely) benign	1 lab	c6e44457de
13:86368866 SLITRK6 G>A	13	86368866	86368866	G	A	SLITRK6				NC_000013.10:g.86368866G>A	VUS	1 lab	c6e4a4c88d
13:32931655 BRCA2 C>T	13	32931655	32931655	C	T	BRCA2	c.7618-224C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32931655C>T	(Likely) benign	1 lab	c6e6553bdb
17:4837952 GP1BA A>AG	17	4837952	4837955	A	AG	GP1BA	c.*97dup	NM_000173.7	NP_000164.5:p.?	NC_000017.10:g.4837955dup	(Likely) benign	1 lab	13795d0b47
X:20181159 RPS6KA3 C>G	X	20181159	20181159	C	G	RPS6KA3	c.1765-1G>C	NM_004586.2	NP_004577.1:p.?	NC_000023.10:g.20181159C>G	(Likely) pathogenic	1 lab	c6e7d88863
22:42608344 TCF20 G>A	22	42608344	42608344	G	A	TCF20	c.2968C>T	NM_005650.3	NP_005641.1:p.(Arg990Trp)	NC_000022.10:g.42608344G>A	VUS	1 lab	c6e866c9ae
2:48033545 MSH6 A>T	2	48033545	48033545	A	T	MSH6	c.3802-46A>T	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48033545A>T	(Likely) benign	1 lab	c6ecd5c864
12:111353553 MYL2 G>T	12	111353553	111353553	G	T	MYL2	c.135C>A	NM_000432.4	NP_000423.2:p.(Asp45Glu)	NC_000012.11:g.111353553G>T	VUS	1 lab	c6f2921bbf
2:99013278 CNGA3 G>T	2	99013278	99013278	G	T	CNGA3	c.1645G>T	NM_001298.3	NP_001289.1:p.(Glu549Ter)	NC_000002.11:g.99013278G>T	(Likely) pathogenic	1 lab	c6f5d4cb9b
13:20633667 ZMYM2 C>T	13	20633667	20633667	C	T	ZMYM2	c.2704C>T	NM_197968.4	NP_932072.1:p.(Gln902Ter)	NC_000013.10:g.20633667C>T	(Likely) pathogenic	1 lab	c6f624c929
4:47655650 CORIN C>T	4	47655650	47655650	C	T	CORIN	c.1763G>A	NM_006587.4	NP_006578.2:p.(Arg588His)	NC_000004.11:g.47655650C>T	VUS	1 lab	101fd4861d
11:118377004 KMT2A CTG>C	11	118377004	118377006	CTG	C	KMT2A	c.10398_10399del	NM_001197104.1	NP_001184033.1:p.(Gly3467AspfsTer7)	NC_000011.9:g.118377005_118377006del	(Likely) pathogenic	1 lab	c6fc64ee49
3:37038114 MLH1 G>C	3	37038114	37038114	G	C	MLH1	c.121G>C	NM_000249.4	NP_000240.1:p.(Asp41His)	NC_000003.11:g.37038114G>C	(Likely) pathogenic	1 lab	c6fcf2ec73
3:37061879 MLH1 CA>C	3	37061879	37061880	CA	C	MLH1	c.964del	NM_000249.4	NP_000240.1:p.(Ile322SerfsTer45)	NC_000003.11:g.37061880del	(Likely) pathogenic	1 lab	c6fdf20ecf
11:47364834 MYBPC3 T>C	11	47364834	47364834	T	C	MYBPC3	c.1224-21A>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47364834T>C	(Likely) pathogenic	1 lab	c7012fd10f
3:11067502 SLC6A1 T>C	3	11067502	11067502	T	C	SLC6A1	c.893T>C	NM_003042.3	NP_003033.3:p.(Leu298Pro)	NC_000003.11:g.11067502T>C	(Likely) pathogenic	1 lab	c70207a2b5
14:102452601 DYNC1H1 A>G	14	102452601	102452601	A	G	DYNC1H1	c.2039A>G	NM_001376.5	NP_001367.2:p.(Gln680Arg)	NC_000014.8:g.102452601A>G	VUS	1 lab	c703025654
14:54418925 BMP4 G>A	14	54418925	54418925	G	A	BMP4	c.16C>T	NM_001202.6	NP_001193.2:p.(Arg6Ter)	NC_000014.8:g.54418925G>A	(Likely) pathogenic	1 lab	c703083af0
12:6127868 VWF G>A	12	6127868	6127868	G	A	VWF	c.4716C>T	NM_000552.3	NP_000543.2:p.(Gly1572=)	NC_000012.11:g.6127868G>A	(Likely) benign	1 lab	c704677c14
17:37830315 PGAP3 C>CTACTCTG	17	37830315	37830316	C	CTACTCTG	PGAP3	c.496-9_496-8insCAGAGTA	NM_033419.4	NP_219487.3:p.?	NC_000017.10:g.37830315_37830316insTACTCTG	VUS	1 lab	c7051df37f
1:94467447 ABCA4 G>A	1	94467447	94467447	G	A	ABCA4	c.6249C>T	NM_000350.2	NP_000341.2:p.(Ile2083=)	NC_000001.10:g.94467447G>A	(Likely) benign	1 lab	c70a1b1289
2:165952063 SCN3A G>A	2	165952063	165952063	G	A	SCN3A	c.4389C>T	NM_006922.3	NP_008853.3:p.(Phe1463=)	NC_000002.11:g.165952063G>A	(Likely) benign	1 lab	c70bc24b94
3:47030825 NBEAL2 G>A	3	47030825	47030825	G	A	NBEAL2	c.427G>A	NM_015175.2	NP_055990.1:p.(Glu143Lys)	NC_000003.11:g.47030825G>A	VUS	1 lab	c70d0ad55e
2:175612905 CHRNA1 C>T	2	175612905	175612905	C	T	CHRNA1	c.1321G>A	NM_000079.4	NP_000070.1:p.(Gly441Arg)	NC_000002.11:g.175612905C>T	(Likely) pathogenic	1 lab	c70f48f3f1
15:63349227 TPM1 T>C	15	63349227	63349227	T	C	TPM1	c.284T>C	NM_001018005.2	NP_001018005.1:p.(Val95Ala)	NC_000015.9:g.63349227T>C	(Likely) pathogenic	1 lab	c710100bcb
1:22161243 HSPG2 G>A	1	22161243	22161243	G	A	HSPG2				NC_000001.10:g.22161243G>A	VUS	1 lab	c712cb930d
15:43892272 STRC T>C	15	43892272	43892272	T	C	STRC	c.5125A>G	NM_153700.2	NP_714544.1:p.(Thr1709Ala)	NC_000015.9:g.43892272T>C	(Likely) pathogenic	1 lab	c7195a4e1b
20:42744624 JPH2 TG>T	20	42744624	42744626	TG	T	JPH2	c.1690del	NM_020433.4	NP_065166.2:p.(Gln564ArgfsTer82)	NC_000020.10:g.42744626del	VUS	1 lab	c71c0c92fc
1:94481951 ABCA4 G>A	1	94481951	94481951	G	A	ABCA4	c.5197-541C>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94481951G>A	(Likely) benign	1 lab	c71d093385
11:125831831 CDON G>A	11	125831831	125831831	G	A	CDON	c.3419C>T	NM_016952.5	NP_058648.4:p.(Ala1140Val)	NC_000011.9:g.125831831G>A	VUS	1 lab	101ff5209d
1:2160306 SKI G>A	1	2160306	2160306	G	A	SKI	c.101G>A	NM_003036.3	NP_003027.1:p.(Gly34Asp)	NC_000001.10:g.2160306G>A	(Likely) pathogenic	1 lab	c721037593
2:16086029 MYCN T>C	2	16086029	16086029	T	C	MYCN	c.1205T>C	NM_005378.4	NP_005369.2:p.(Leu402Pro)	NC_000002.11:g.16086029T>C	(Likely) pathogenic	1 lab	c724a2d7f2
X:5821707 NLGN4X T>C	X	5821707	5821707	T	C	NLGN4X	c.1012A>G	NM_001282145.1	NP_001269074.1:p.(Ile338Val)	NC_000023.10:g.5821707T>C	VUS	1 lab	c7250e5f0a
3:69928509 MITF C>T	3	69928509	69928509	C	T	MITF	c.329C>T	NM_198159.2	NP_937802.1:p.(Thr110Met)	NC_000003.11:g.69928509C>T	VUS	1 lab	c7257bdccd
6:30690317 TUBB T>G	6	30690317	30690317	T	G	TUBB	c.61T>G	NM_178014.3	NP_821133.1:p.(Trp21Gly)	NC_000006.11:g.30690317T>G	(Likely) pathogenic	1 lab	c72672dd2e
2:44503054 SLC3A1 A>C	2	44503054	44503054	A	C	SLC3A1	c.380A>C	NM_000341.3	NP_000332.2:p.(Tyr127Ser)	NC_000002.11:g.44503054A>C	VUS	1 lab	c72676b6f3
1:226125213 LEFTY2 C>T	1	226125213	226125213	C	T	LEFTY2	c.1029G>A	NM_003240.3	NP_003231.2:p.(Leu343=)	NC_000001.10:g.226125213C>T	(Likely) benign	1 lab	c72d2a54c7
2:230664098 TRIP12 G>A	2	230664098	230664098	G	A	TRIP12	c.2983C>T	NM_004238.2	NP_004229.1:p.(Arg995Ter)	NC_000002.11:g.230664098G>A	(Likely) pathogenic	1 lab	c730d4f6ce
7:143047873 CLCN1 CT>C	7	143047873	143047887	CT	C	CLCN1	c.2595+140del	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143047887del	(Likely) benign	1 lab	137b9d915f
5:37022409 NIPBL G>C	5	37022409	37022409	G	C	NIPBL	c.5491G>C	NM_133433.4	NP_597677.2:p.(Ala1831Pro)	NC_000005.9:g.37022409G>C	(Likely) pathogenic	1 lab	c73786c886
17:41251944 BRCA1 G>A	17	41251944	41251944	G	A	BRCA1	c.442-47C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251944G>A	(Likely) benign	1 lab	c73a7046c2
X:153593797 FLNA C>T	X	153593797	153593797	C	T	FLNA	c.1487G>A	NM_001110556.1	NP_001104026.1:p.(Arg496Gln)	NC_000023.10:g.153593797C>T	VUS	1 lab	c73c99f40f
6:1610926 FOXC1 C>G	6	1610926	1610926	C	G	FOXC1	c.246C>G	NM_001453.2	NP_001444.2:p.(Ser82Arg)	NC_000006.11:g.1610926C>G	(Likely) pathogenic	1 lab	c73df12d76
X:585355 SHOX A>G	X	585355	585355	A	G	SHOX	c.-433+18A>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585355A>G	(Likely) benign	1 lab	c73e446353
1:146739075 CHD1L T>G	1	146739075	146739075	T	G	CHD1L	c.896-10T>G	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146739075T>G	(Likely) benign	1 lab	137e519175
7:98983421 ARPC1B C>T	7	98983421	98983421	C	T	ARPC1B	c.64+20C>T	NM_005720.4	NP_005711.1:p.?	NC_000007.13:g.98983421C>T	(Likely) benign	1 lab	1380ba98de
1:65321323 JAK1 C>T	1	65321323	65321323	C	T	JAK1	c.1517G>A	NM_002227.4	NP_002218.2:p.(Arg506His)	NC_000001.10:g.65321323C>T	VUS	1 lab	1026c4fd4b
12:111348640 MYL2 G>A	12	111348640	111348640	G	A	MYL2	c.*241C>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111348640G>A	(Likely) benign	1 lab	c74617dcf8
15:52664517 MYO5A C>T	15	52664517	52664517	C	T	MYO5A				NC_000015.9:g.52664517C>T	VUS	1 lab	c74aa05752
X:48368323 PORCN T>C	X	48368323	48368323	T	C	PORCN	c.115T>C	NM_203475.1	NP_982301.1:p.(Cys39Arg)	NC_000023.10:g.48368323T>C	(Likely) pathogenic	1 lab	c74cfc7248
16:67470003 HSD11B2 C>T	16	67470003	67470003	C	T	HSD11B2	c.622C>T	NM_000196.3	NP_000187.3:p.(Arg208Cys)	NC_000016.9:g.67470003C>T	(Likely) pathogenic	1 lab	c74edf181a
14:31355365 COCH G>C	14	31355365	31355365	G	C	COCH	c.1324G>C	NM_004086.3	NP_004077.1:p.(Gly442Arg)	NC_000014.8:g.31355365G>C	VUS	1 lab	c75063ce08
16:28488941 CLN3 G>A	16	28488941	28488941	G	A	CLN3	c.1213C>T	NM_001042432.2	NP_001035897.1:p.(Arg405Trp)	NC_000016.9:g.28488941G>A	(Likely) pathogenic	1 lab	c752647435
14:102484810 DYNC1H1 G>A	14	102484810	102484810	G	A	DYNC1H1	c.8200G>A	NM_001376.4	NP_001367.2:p.(Val2734Met)	NC_000014.8:g.102484810G>A	VUS	1 lab	c753c914e3
17:4804073 CHRNE G>C	17	4804073	4804073	G	C	CHRNE	c.917+15C>G	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4804073G>C	(Likely) benign	1 lab	c753e8c85e
X:70384091 NLGN3 G>A	X	70384091	70384091	G	A	NLGN3	c.826G>A	NM_181303.1	NP_851820.1:p.(Gly276Arg)	NC_000023.10:g.70384091G>A	VUS	1 lab	c7571cdb77
6:161969959 PRKN C>T	6	161969959	161969959	C	T	PRKN	c.1010G>A	NM_004562.2	NP_004553.2:p.(Cys337Tyr)	NC_000006.11:g.161969959C>T	VUS	1 lab	c7572c591b
17:38975787 KRT10 A>G	17	38975787	38975787	A	G	KRT10	c.1355T>C	NM_000421.5	NP_000412.4:p.(Leu452Pro)	NC_000017.10:g.38975787A>G	(Likely) pathogenic	1 lab	c7589e2930
11:108143471 ATM C>T	11	108143471	108143471	C	T	ATM	c.3176C>T	NM_000051.4	NP_000042.3:p.(Ala1059Val)	NC_000011.9:g.108143471C>T	VUS	1 lab	c75b9643b5
14:102474630 DYNC1H1 T>G	14	102474630	102474630	T	G	DYNC1H1	c.5933T>G	NM_001376.5	NP_001367.2:p.(Ile1978Arg)	NC_000014.8:g.102474630T>G	VUS	1 lab	102a5948fd
1:43395707 SLC2A1 C>G	1	43395707	43395707	C	G	SLC2A1	c.517-1G>C	NM_006516.4	NP_006507.2:p.?	NC_000001.10:g.43395707C>G	(Likely) pathogenic	1 lab	102bb346b5
19:46271467 SIX5 G>A	19	46271467	46271467	G	A	SIX5	c.636C>T	NM_175875.4	NP_787071.2:p.(Ser212=)	NC_000019.9:g.46271467G>A	(Likely) benign	1 lab	13824298a5
X:70607258 TAF1 G>A	X	70607258	70607258	G	A	TAF1	c.2434G>A	NM_001286074.1	NP_001273003.1:p.(Val812Ile)	NC_000023.10:g.70607258G>A	VUS	1 lab	c7602f1eb0
17:79865722 PCYT2 C>T	17	79865722	79865722	C	T	PCYT2	c.419G>A	NM_001184917.2	NP_001171846.1:p.(Arg140His)	NC_000017.10:g.79865722C>T	VUS	1 lab	c76336996a
X:53657964 HUWE1 C>T	X	53657964	53657964	C	T	HUWE1	c.785G>A	NM_031407.7	NP_113584.3:p.(Arg262Gln)	NC_000023.10:g.53657964C>T	VUS	1 lab	c768898694
1:237814744 RYR2 CAGA>C	1	237814744	237814750	CAGA	C	RYR2	c.7771_7773del	NM_001035.2	NP_001026.2:p.(Arg2591del)	NC_000001.10:g.237814748_237814750del	VUS	1 lab	c76d2ed7a8
4:16077401 PROM1 G>A	4	16077401	16077401	G	A	PROM1	c.129C>T	NM_006017.2	NP_006008.1:p.(Thr43=)	NC_000004.11:g.16077401G>A	(Likely) benign	1 lab	c7715d6eca
12:116429116 MED13L T>A	12	116429116	116429116	T	A	MED13L	c.3643A>T	NM_015335.4	NP_056150.1:p.(Thr1215Ser)	NC_000012.11:g.116429116T>A	(Likely) benign	1 lab	c7736ad9c2
2:228144706 COL4A3 G>T	2	228144706	228144706	G	T	COL4A3	c.2223+100G>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228144706G>T	(Likely) benign	1 lab	c773a08190
6:85447125 TBX18 T>G	6	85447125	85447125	T	G	TBX18	c.1102A>C	NM_001080508.3	NP_001073977.1:p.(Asn368His)	NC_000006.11:g.85447125T>G	(Likely) benign	1 lab	1383a91ecb
2:47637359 MSH2 T>G	2	47637359	47637359	T	G	MSH2	c.493T>G	NM_000251.3	NP_000242.1:p.(Tyr165Asp)	NC_000002.11:g.47637359T>G	(Likely) pathogenic	1 lab	c77a6eb289
17:10543133 MYH3 G>A	17	10543133	10543133	G	A	MYH3	c.2683-14C>T	NM_002470.3	NP_002461.2:p.?	NC_000017.10:g.10543133G>A	(Likely) benign	1 lab	c77fb17f5a
3:38592650 SCN5A G>A	3	38592650	38592650	G	A	SCN5A	c.5213C>T	NM_198056.2	NP_932173.1:p.(Ser1738Phe)	NC_000003.11:g.38592650G>A	VUS	1 lab	c7858e2754
1:110740688 SLC6A17 C>T	1	110740688	110740688	C	T	SLC6A17	c.1816-10C>T	NM_001010898.2	NP_001010898.1:p.?	NC_000001.10:g.110740688C>T	(Likely) benign	1 lab	c7860a1bd1
13:110819579 COL4A1 T>C	13	110819579	110819579	T	C	COL4A1	c.3877-2A>G	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110819579T>C	VUS	1 lab	c78906d72d
12:116429486 MED13L G>A	12	116429486	116429486	G	A	MED13L	c.3273C>T	NM_015335.4	NP_056150.1:p.(Pro1091=)	NC_000012.11:g.116429486G>A	(Likely) benign	1 lab	c78963faab
1:216258213 USH2A A>G	1	216258213	216258213	A	G	USH2A				NC_000001.10:g.216258213A>G	(Likely) benign	1 lab	c78ce56b59
7:107341622 SLC26A4 G>A	7	107341622	107341622	G	A	SLC26A4	c.1784G>A	NM_000441.1	NP_000432.1:p.(Gly595Glu)	NC_000007.13:g.107341622G>A	VUS	1 lab	c78e0c176b
20:49557440 DPM1 C>A	20	49557440	49557440	C	A	DPM1	c.525G>T	NM_003859.2	NP_003850.1:p.(Leu175Phe)	NC_000020.10:g.49557440C>A	VUS	1 lab	c78e18349f
20:57429909 GNAS C>G	20	57429909	57429909	C	G	GNAS	c.1402C>G	NM_001077490.3	NP_001070958.1:p.(Pro468Ala)	NC_000020.10:g.57429909C>G	VUS	1 lab	103682714b
11:47353311 MYBPC3 G>T	11	47353311	47353311	G	T	MYBPC3	c.*27-44C>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353311G>T	(Likely) benign	1 lab	c793d42c19
14:23855739 MYH6 C>T	14	23855739	23855739	C	T	MYH6	c.4744G>A	NM_002471.3	NP_002462.2:p.(Asp1582Asn)	NC_000014.8:g.23855739C>T	VUS	1 lab	c79451d2f6
1:173930866 RC3H1 G>A	1	173930866	173930866	G	A	RC3H1	c.2199C>T	NM_172071.4	NP_742068.1:p.(Leu733=)	NC_000001.10:g.173930866G>A	(Likely) benign	1 lab	138a746919
5:132197286 GDF9 G>A	5	132197286	132197286	G	A	GDF9	c.1360C>T	NM_005260.6	NP_005251.1:p.(Arg454Cys)	NC_000005.9:g.132197286G>A	VUS	1 lab	10383134eb
7:140481417 BRAF C>A	7	140481417	140481417	C	A	BRAF	c.1391G>T	NM_004333.4	NP_004324.2:p.(Gly464Val)	NC_000007.13:g.140481417C>A	(Likely) pathogenic	1 lab	c79730a65c
15:101432803 ALDH1A3 C>T	15	101432803	101432803	C	T	ALDH1A3	c.434C>T	NM_000693.3	NP_000684.2:p.(Ala145Val)	NC_000015.9:g.101432803C>T	(Likely) pathogenic	1 lab	c798079668
5:140075106 HARS2 G>A	5	140075106	140075106	G	A	HARS2	c.413G>A	NM_012208.3	NP_036340.1:p.(Arg138His)	NC_000005.9:g.140075106G>A	VUS	1 lab	c7a1e68684
10:69957120 MYPN G>A	10	69957120	69957120	G	A	MYPN	c.3170G>A	NM_032578.4	NP_115967.2:p.(Arg1057Gln)	NC_000010.10:g.69957120G>A	VUS	1 lab	1038c9faf6
1:214815655 CENPF G>A	1	214815655	214815655	G	A	CENPF	c.3974G>A	NM_016343.4	NP_057427.3:p.(Arg1325Lys)	NC_000001.10:g.214815655G>A	(Likely) benign	1 lab	138e002e24
15:66779584 MAP2K1 G>A	15	66779584	66779584	G	A	MAP2K1	c.914G>A	NM_002755.3	NP_002746.1:p.(Arg305Gln)	NC_000015.9:g.66779584G>A	VUS	1 lab	c7a5062384
2:179583969 TTN A>G	2	179583969	179583969	A	G	TTN	c.24148T>C	NM_001267550.2	NP_001254479.2:p.(Ser8050Pro)	NC_000002.11:g.179583969A>G	(Likely) benign	1 lab	c7a597d740
8:65517317 CYP7B1 G>C	8	65517317	65517317	G	C	CYP7B1	c.1155C>G	NM_004820.3	NP_004811.1:p.(Tyr385Ter)	NC_000008.10:g.65517317G>C	(Likely) pathogenic	1 lab	c7a6f46a37
2:179604238 TTN CTCT>C	2	179604238	179604241	CTCT	C	TTN	c.13719_13721del	NM_001267550.2	NP_001254479.2:p.(Glu4575del)	NC_000002.11:g.179604239_179604241del	VUS	1 lab	c7a77398cc
1:205033581 CNTN2 A>G	1	205033581	205033581	A	G	CNTN2				NC_000001.10:g.205033581A>G	VUS	1 lab	c7aaf3549c
7:143036620 CLCN1 G>T	7	143036620	143036620	G	T	CLCN1	c.1488G>T	NM_000083.2	NP_000074.2:p.(Arg496Ser)	NC_000007.13:g.143036620G>T	(Likely) pathogenic	1 lab	c7ab4cd451
10:96012108 PLCE1 C>T	10	96012108	96012108	C	T	PLCE1	c.3132C>T	NM_016341.3	NP_057425.3:p.(His1044=)	NC_000010.10:g.96012108C>T	(Likely) benign	1 lab	c7ab5334a3
X:585257 SHOX G>A	X	585257	585257	G	A	SHOX	c.-513G>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585257G>A	(Likely) benign	1 lab	c86ac63b7d
7:140477813 BRAF T>C	7	140477813	140477813	T	C	BRAF	c.1495A>G	NM_004333.4	NP_004324.2:p.(Lys499Glu)	NC_000007.13:g.140477813T>C	(Likely) pathogenic	1 lab	c7abacf7a2
21:47544599 COL6A2 G>A	21	47544599	47544599	G	A	COL6A2	c.1706G>A	NM_001849.3	NP_001840.3:p.(Arg569Gln)	NC_000021.8:g.47544599G>A	VUS	1 lab	c7adaa7530
5:140903782 DIAPH1 C>T	5	140903782	140903782	C	T	DIAPH1	c.3589G>A	NM_005219.4	NP_005210.3:p.(Gly1197Ser)	NC_000005.9:g.140903782C>T	(Likely) pathogenic	1 lab	c7ae1e34b0
19:50766618 MYH14 C>T	19	50766618	50766618	C	T	MYH14				NC_000019.9:g.50766618C>T	VUS	1 lab	c7aec37882
13:113770022 F7 A>G	13	113770022	113770022	A	G	F7	c.479A>G	NM_000131.4	NP_000122.1:p.(Gln160Arg)	NC_000013.10:g.113770022A>G	(Likely) pathogenic	1 lab	c7af9e7385
12:8804274 MFAP5 T>C	12	8804274	8804274	T	C	MFAP5	c.231A>G	NM_003480.3	NP_003471.1:p.(Glu77=)	NC_000012.11:g.8804274T>C	(Likely) benign	1 lab	c7b072227f
11:67808820 TCIRG1 C>T	11	67808820	67808820	C	T	TCIRG1	c.82C>T	NM_006019.4	NP_006010.2:p.(Arg28Trp)	NC_000011.9:g.67808820C>T	VUS	1 lab	c7b11753f2
1:11270961 MTOR G>T	1	11270961	11270961	G	T	MTOR	c.3564C>A	NM_004958.3	NP_004949.1:p.(Tyr1188Ter)	NC_000001.10:g.11270961G>T	VUS	1 lab	c7b231b965
13:101944432 NALCN G>C	13	101944432	101944432	G	C	NALCN	c.956C>G	NM_052867.2	NP_443099.1:p.(Ala319Gly)	NC_000013.10:g.101944432G>C	VUS	1 lab	c7b41f0400
3:25654048 TOP2B A>G	3	25654048	25654048	A	G	TOP2B	c.3729T>C	NM_001068.3	NP_001059.2:p.(Ala1243=)	NC_000003.11:g.25654048A>G	(Likely) benign	1 lab	138ee09c46
11:70331690 SHANK2 C>A	11	70331690	70331690	C	A	SHANK2	c.3571G>T	NM_001379226.1	NP_001366155.1:p.(Glu1191Ter)	NC_000011.9:g.70331690C>A	(Likely) pathogenic	1 lab	c7b5076879
15:49103244 CEP152 T>C	15	49103244	49103244	T	C	CEP152	c.-94A>G	NM_001194998.1	NP_001181927.1:p.?	NC_000015.9:g.49103244T>C	(Likely) benign	1 lab	c7bab15bf1
17:45385012 ITGB3 C>T	17	45385012	45385012	C	T	ITGB3	c.2301+9C>T	NM_000212.2	NP_000203.2:p.?	NC_000017.10:g.45385012C>T	(Likely) benign	1 lab	c7bee969b5
5:149245821 PDE6A C>T	5	149245821	149245821	C	T	PDE6A	c.2275-5G>A	NM_000440.2	NP_000431.2:p.?	NC_000005.9:g.149245821C>T	VUS	1 lab	c7c04533d0
11:2549164 KCNQ1 C>T	11	2549164	2549164	C	T	KCNQ1	c.393C>T	NM_000218.2	NP_000209.2:p.(Leu131=)	NC_000011.9:g.2549164C>T	(Likely) benign	1 lab	c7c7d28c07
3:33038802 GLB1 C>T	3	33038802	33038802	C	T	GLB1	c.1769G>A	NM_000404.4	NP_000395.3:p.(Arg590His)	NC_000003.11:g.33038802C>T	(Likely) pathogenic	1 lab	c7c9659592
2:167060990 SCN9A A>AT	2	167060990	167060991	A	AT	SCN9A	c.4366-17_4366-16insA	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167060990_167060991insT	(Likely) benign	1 lab	c7cd102ebd
1:241665821 FH T>G	1	241665821	241665821	T	G	FH	c.1158A>C	NM_000143.3	NP_000134.2:p.(Gln386His)	NC_000001.10:g.241665821T>G	(Likely) pathogenic	1 lab	c7cfded88e
3:37059129 MLH1 G>A	3	37059129	37059129	G	A	MLH1	c.884+39G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37059129G>A	(Likely) benign	1 lab	c7d042a034
2:47613768 EPCAM A>G	2	47613768	47613768	A	G	EPCAM	c.*16A>G	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47613768A>G	(Likely) benign	1 lab	c7d0b7374b
1:236907958 ACTN2 G>A	1	236907958	236907958	G	A	ACTN2	c.664G>A	NM_001278344.2	NP_001265273.1:p.(Glu222Lys)	NC_000001.10:g.236907958G>A	VUS	1 lab	103d5ae3db
11:65635803 EFEMP2 T>C	11	65635803	65635803	T	C	EFEMP2	c.937A>G	NM_016938.4	NP_058634.4:p.(Asn313Asp)	NC_000011.9:g.65635803T>C	VUS	1 lab	c7d2b92fb4
9:34371185 MYORG G>T	9	34371185	34371185	G	T	MYORG	c.1757C>A	NM_020702.5	NP_065753.2:p.(Ala586Asp)	NC_000009.11:g.34371185G>T	VUS	1 lab	103e29242c
16:2144026 PKD1 GA>G	16	2144026	2144027	GA	G	PKD1	c.10619-13del	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2144027del	(Likely) benign	1 lab	1392a6b261
8:61769151 CHD7 C>T	8	61769151	61769151	C	T	CHD7	c.7312C>T	NM_017780.3	NP_060250.2:p.(Gln2438Ter)	NC_000008.10:g.61769151C>T	(Likely) pathogenic	1 lab	c7dbc39e84
12:32994069 PKP2 C>T	12	32994069	32994069	C	T	PKP2	c.1581G>A	NM_004572.3	NP_004563.2:p.(Leu527=)	NC_000012.11:g.32994069C>T	(Likely) benign	1 lab	c7dc610a94
5:231026 SDHA C>T	5	231026	231026	C	T	SDHA	c.806C>T	NM_004168.2	NP_004159.2:p.(Ala269Val)	NC_000005.9:g.231026C>T	VUS	1 lab	c7ddf22809
19:18273793 PIK3R2 A>G	19	18273793	18273793	A	G	PIK3R2	c.1126A>G	NM_005027.3	NP_005018.1:p.(Lys376Glu)	NC_000019.9:g.18273793A>G	(Likely) pathogenic	1 lab	c7e2a44e1d
11:47463231 RAPSN G>A	11	47463231	47463231	G	A	RAPSN				NC_000011.9:g.47463231G>A	VUS	1 lab	c7e3a7bd35
22:29108112 CHEK2 A>C	22	29108112	29108112	A	C	CHEK2	c.684-107T>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29108112A>C	(Likely) benign	1 lab	c7e734110e
17:37822050 TCAP G>A	17	37822050	37822050	G	A	TCAP	c.192G>A	NM_003673.3	NP_003664.1:p.(Ser64=)	NC_000017.10:g.37822050G>A	(Likely) benign	1 lab	c7e888af23
9:2717922 KCNV2 C>G	9	2717922	2717922	C	G	KCNV2	c.183C>G	NM_133497.3	NP_598004.1:p.(Gly61=)	NC_000009.11:g.2717922C>G	(Likely) benign	1 lab	c7f20f0605
17:79869147 PCYT2 C>T	17	79869147	79869147	C	T	PCYT2	c.85G>A	NM_001184917.2	NP_001171846.1:p.(Gly29Ser)	NC_000017.10:g.79869147C>T	VUS	1 lab	c7f446a0ce
X:53239696 KDM5C A>G	X	53239696	53239696	A	G	KDM5C				NC_000023.10:g.53239696A>G	VUS	1 lab	c7f4b68661
13:100637214 ZIC2 C>T	13	100637214	100637214	C	T	ZIC2	c.1090C>T	NM_007129.3	NP_009060.2:p.(Gln364Ter)	NC_000013.10:g.100637214C>T	(Likely) pathogenic	1 lab	c7f53cb08b
7:91669981 AKAP9 A>T	7	91669981	91669981	A	T	AKAP9	c.4693-7A>T	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91669981A>T	(Likely) benign	1 lab	c7f58c5aec
2:167142951 SCN9A T>C	2	167142951	167142951	T	C	SCN9A	c.1497A>G	NM_002977.3	NP_002968.1:p.(Lys499=)	NC_000002.11:g.167142951T>C	(Likely) benign	1 lab	c7f5ccdb56
1:63010600 DOCK7 C>CT	1	63010600	63010601	C	CT	DOCK7	c.2859+17dup	NM_001271999.1	NP_001258928.1:p.?	NC_000001.10:g.63010601dup	(Likely) benign	1 lab	13937cc7ae
6:6222382 F13A1 T>G	6	6222382	6222382	T	G	F13A1	c.996A>C	NM_000129.3	NP_000120.2:p.(Pro332=)	NC_000006.11:g.6222382T>G	(Likely) benign	1 lab	c7f9214c46
17:41251960 BRCA1 A>G	17	41251960	41251960	A	G	BRCA1	c.442-63T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41251960A>G	(Likely) benign	1 lab	c7f9c0706a
12:7053032 RNU7-1 G>T	12	7053032	7053032	G	T	RNU7-1	n.54G>T	NR_023317.1		NC_000012.11:g.7053032G>T	VUS	1 lab	10422827f5
1:181685258 CACNA1E C>G	1	181685258	181685258	C	G	CACNA1E	c.1308C>G	NM_000721.4	NP_000712.2:p.(Ser436=)	NC_000001.10:g.181685258C>G	(Likely) benign	1 lab	13965cb9b8
10:105810589 COL17A1 G>C	10	105810589	105810589	G	C	COL17A1	c.2092+17C>G	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105810589G>C	(Likely) benign	1 lab	10431a5fdd
18:33780020 MOCOS A>G	18	33780020	33780020	A	G	MOCOS	c.674A>G	NM_017947.2	NP_060417.2:p.(His225Arg)	NC_000018.9:g.33780020A>G	(Likely) benign	1 lab	c7ff371626
1:156107505 LMNA G>A	1	156107505	156107505	G	A	LMNA	c.1669G>A	NM_170707.3	NP_733821.1:p.(Asp557Asn)	NC_000001.10:g.156107505G>A	VUS	1 lab	c8000f03c2
17:8146288 CTC1 G>A	17	8146288	8146288	G	A	CTC1	c.197+15C>T	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8146288G>A	(Likely) benign	1 lab	139cb63273
1:216498883 USH2A G>A	1	216498883	216498883	G	A	USH2A	c.907C>T	NM_206933.4	NP_996816.3:p.(Arg303Cys)	NC_000001.10:g.216498883G>A	(Likely) pathogenic	1 lab	c8039e9e4b
2:227974069 COL4A4 C>T	2	227974069	227974069	C	T	COL4A4	c.595-67G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227974069C>T	(Likely) benign	1 lab	c809e1aa2b
2:227895257 COL4A4 C>T	2	227895257	227895257	C	T	COL4A4	c.3875G>A	NM_000092.4	NP_000083.3:p.(Gly1292Asp)	NC_000002.11:g.227895257C>T	(Likely) pathogenic	1 lab	c80a56f56a
2:170096095 LRP2 C>G	2	170096095	170096095	C	G	LRP2	c.4236G>C	NM_004525.2	NP_004516.2:p.(Arg1412=)	NC_000002.11:g.170096095C>G	(Likely) benign	1 lab	c80f625ae1
15:63335022 TPM1 C>A	15	63335022	63335022	C	A	TPM1	c.-7C>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63335022C>A	(Likely) benign	1 lab	c80f9b825f
X:128602791 SMARCA1 T>A	X	128602791	128602791	T	A	SMARCA1	c.2657A>T	NM_001282874.1	NP_001269803.1:p.(Glu886Val)	NC_000023.10:g.128602791T>A	(Likely) benign	1 lab	c81203e553
X:110653394 DCX C>G	X	110653394	110653394	C	G	DCX	c.476G>C	NM_000555.3	NP_000546.2:p.(Arg159Pro)	NC_000023.10:g.110653394C>G	(Likely) pathogenic	1 lab	c81576c29c
1:52841246 ORC1 C>T	1	52841246	52841246	C	T	ORC1	c.2159G>A	NM_004153.4	NP_004144.2:p.(Arg720Gln)	NC_000001.10:g.52841246C>T	(Likely) pathogenic	1 lab	c815d76cc4
13:113772897 F7 C>T	13	113772897	113772897	C	T	F7	c.976C>T	NM_000131.4	NP_000122.1:p.(Arg326Trp)	NC_000013.10:g.113772897C>T	VUS	1 lab	c817f515e6
3:9488916 SETD5 C>A	3	9488916	9488916	C	A	SETD5	c.1707C>A	NM_001080517.3	NP_001073986.1:p.(Asn569Lys)	NC_000003.11:g.9488916C>A	VUS	1 lab	10436c67cf
2:220284806 DES G>GCCTGGA	2	220284806	220284807	G	GCCTGGA	DES	c.579-11_579-10insCCTGGA	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220284806_220284807insCCTGGA	VUS	1 lab	c819f1e0c1
15:25615730 UBE3A C>T	15	25615730	25615730	C	T	UBE3A	c.1531G>A	NM_130838.2	NP_570853.1:p.(Asp511Asn)	NC_000015.9:g.25615730C>T	VUS	1 lab	c81d6aca4e
9:104198194 ALDOB C>T	9	104198194	104198194	C	T	ALDOB				NC_000009.11:g.104198194C>T	VUS	1 lab	c81d88a0bb
18:31323509 ASXL3 A>T	18	31323509	31323509	A	T	ASXL3	c.3697A>T	NM_030632.1	NP_085135.1:p.(Lys1233Ter)	NC_000018.9:g.31323509A>T	(Likely) pathogenic	1 lab	c81e707588
X:149764968 MTM1 C>T	X	149764968	149764968	C	T	MTM1	c.70C>T	NM_000252.3	NP_000243.1:p.(Arg24Ter)	NC_000023.10:g.149764968C>T	(Likely) pathogenic	1 lab	c820f04e07
1:78383807 NEXN T>C	1	78383807	78383807	T	C	NEXN	c.299-3T>C	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78383807T>C	(Likely) benign	1 lab	c8252f9763
3:55513486 WNT5A A>G	3	55513486	55513486	A	G	WNT5A	c.247T>C	NM_003392.4	NP_003383.2:p.(Cys83Arg)	NC_000003.11:g.55513486A>G	(Likely) pathogenic	1 lab	c826f0ae55
12:9007368 A2ML1 C>A	12	9007368	9007368	C	A	A2ML1	c.2713-8C>A	NM_144670.5	NP_653271.2:p.?	NC_000012.11:g.9007368C>A	(Likely) benign	1 lab	c829dfe8c4
X:70316776 FOXO4 G>GT	X	70316776	70316777	G	GT	FOXO4	c.399dup	NM_005938.4	NP_005929.2:p.(Thr134TyrfsTer10)	NC_000023.10:g.70316777dup	VUS	1 lab	c82ca39859
1:220364548 RAB3GAP2 G>GA	1	220364548	220364553	G	GA	RAB3GAP2	c.1348dup	NM_012414.3	NP_036546.2:p.(Ser450PhefsTer36)	NC_000001.10:g.220364553dup	(Likely) pathogenic	1 lab	c82cee41d4
14:64680906 SYNE2 G>C	14	64680906	64680906	G	C	SYNE2	c.19057-6G>C	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64680906G>C	(Likely) benign	1 lab	c82fcf0f7e
2:32379563 SPAST T>A	2	32379563	32379563	T	A	SPAST	c.1849T>A	NM_014946.3	NP_055761.2:p.(Ter617LysextTer46)	NC_000002.11:g.32379563T>A	VUS	1 lab	c8319e9102
4:110687781 CFI C>T	4	110687781	110687781	C	T	CFI	c.257G>A	NM_000204.5	NP_000195.3:p.(Cys86Tyr)	NC_000004.11:g.110687781C>T	(Likely) pathogenic	1 lab	10492447d4
2:179412190 TTN CTG>C	2	179412190	179412193	CTG	C	TTN	c.86457_86458del	NM_133378.4	NP_596869.4:p.(Asn28819LysfsTer16)	NC_000002.11:g.179412192_179412193del	(Likely) pathogenic	1 lab	c834bd3aab
2:179577554 TTN G>C	2	179577554	179577554	G	C	TTN	c.27198C>G	NM_001267550.2	NP_001254479.2:p.(Asn9066Lys)	NC_000002.11:g.179577554G>C	(Likely) benign	1 lab	c836cf71d9
2:167284444 SCN7A G>A	2	167284444	167284444	G	A	SCN7A	c.2707C>T	NM_002976.4	NP_002967.2:p.(Arg903Cys)	NC_000002.11:g.167284444G>A	(Likely) benign	1 lab	c83ae068a7
13:32914081 BRCA2 A>G	13	32914081	32914081	A	G	BRCA2	c.5589A>G	NM_000059.3	NP_000050.2:p.(Lys1863=)	NC_000013.10:g.32914081A>G	(Likely) benign	1 lab	c83c19cd36
10:88260122 WAPL C>CAGTT	10	88260122	88260126	C	CAGTT	WAPL	c.874_877dup	NM_015045.5	NP_055860.1:p.(Cys293Ter)	NC_000010.10:g.88260123_88260126dup	(Likely) pathogenic	1 lab	c844519425
17:32953978 TMEM132E C>G	17	32953978	32953978	C	G	TMEM132E	c.900C>G	NM_001304438.2	NP_001291367.1:p.(Asp300Glu)	NC_000017.10:g.32953978C>G	VUS	1 lab	c8453d8231
1:229569804 ACTA1 G>A	1	229569804	229569804	G	A	ACTA1	c.-66C>T	NM_001100.3	NP_001091.1:p.?	NC_000001.10:g.229569804G>A	(Likely) benign	1 lab	c84a93fdd7
7:143018580 CLCN1 G>A	7	143018580	143018580	G	A	CLCN1	c.556G>A	NM_000083.3	NP_000074.3:p.(Ala186Thr)	NC_000007.13:g.143018580G>A	VUS	1 lab	c84ad06498
17:42293901 UBTF T>G	17	42293901	42293901	T	G	UBTF	c.230A>C	NM_014233.4	NP_055048.1:p.(Asn77Thr)	NC_000017.10:g.42293901T>G	VUS	1 lab	105045fe59
3:38892243 SCN11A C>T	3	38892243	38892243	C	T	SCN11A	c.4057-1G>A	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38892243C>T	VUS	1 lab	c84d028071
13:111119435 COL4A2 G>A	13	111119435	111119435	G	A	COL4A2	c.2087G>A	NM_001846.4	NP_001837.2:p.(Gly696Asp)	NC_000013.10:g.111119435G>A	VUS	1 lab	c84d2e4558
4:6303823 WFS1 CAAG>C	4	6303823	6303829	CAAG	C	WFS1	c.2305_2307del	NM_006005.3	NP_005996.2:p.(Lys769del)	NC_000004.11:g.6303827_6303829del	(Likely) pathogenic	1 lab	c850023176
5:150923042 FAT2 G>C	5	150923042	150923042	G	C	FAT2	c.7646C>G	NM_001447.3	NP_001438.1:p.(Thr2549Arg)	NC_000005.9:g.150923042G>C	VUS	1 lab	c852e2ece7
3:148459395 AGTR1 C>T	3	148459395	148459395	C	T	AGTR1	c.573C>T	NM_000685.4	NP_000676.1:p.(Leu191=)	NC_000003.11:g.148459395C>T	(Likely) benign	1 lab	c85968e082
1:236924506 ACTN2 A>G	1	236924506	236924506	A	G	ACTN2	c.2526+33A>G	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236924506A>G	(Likely) benign	1 lab	c85983d0f8
16:31498720 SLC5A2 C>T	16	31498720	31498720	C	T	SLC5A2	c.654C>T	NM_003041.3	NP_003032.1:p.(Tyr218=)	NC_000016.9:g.31498720C>T	VUS	1 lab	c85e265bbb
16:89357123 ANKRD11 G>A	16	89357123	89357123	G	A	ANKRD11	c.511C>T	NM_013275.6	NP_037407.4:p.(Arg171Cys)	NC_000016.9:g.89357123G>A	(Likely) pathogenic	1 lab	c860d19ffb
11:108235907 ATM T>A	11	108235907	108235907	T	A	ATM	c.8949T>A	NM_000051.4	NP_000042.3:p.(Thr2983=)	NC_000011.9:g.108235907T>A	(Likely) benign	1 lab	c86145f837
5:149767574 TCOF1 C>T	5	149767574	149767574	C	T	TCOF1	c.2969C>T	NM_001135243.1	NP_001128715.1:p.(Ser990Leu)	NC_000005.9:g.149767574C>T	(Likely) benign	1 lab	c861cf8d51
2:179444735 TTN G>A	2	179444735	179444735	G	A	TTN	c.67279C>T	NM_001267550.2	NP_001254479.2:p.(Arg22427Ter)	NC_000002.11:g.179444735G>A	(Likely) pathogenic	1 lab	c86c6ab3a5
1:94544883 ABCA4 T>TCAG	1	94544883	94544886	T	TCAG	ABCA4	c.1231_1233dup	NM_000350.2	NP_000341.2:p.(Leu411dup)	NC_000001.10:g.94544884_94544886dup	VUS	1 lab	c86d814412
9:130984846 DNM1 C>G	9	130984846	130984846	C	G	DNM1	c.1099C>G	NM_004408.3	NP_004399.2:p.(His367Asp)	NC_000009.11:g.130984846C>G	(Likely) pathogenic	1 lab	c86d92007a
11:32414333 WT1 G>T	11	32414333	32414333	G	T	WT1				NC_000011.9:g.32414333G>T	(Likely) benign	1 lab	150b196208
2:48026204 MSH6 G>A	2	48026204	48026204	G	A	MSH6	c.1082G>A	NM_000179.2	NP_000170.1:p.(Arg361His)	NC_000002.11:g.48026204G>A	VUS	1 lab	c8742fc68a
2:96961364 SNRNP200 T>G	2	96961364	96961364	T	G	SNRNP200	c.1704A>C	NM_014014.5	NP_054733.2:p.(Glu568Asp)	NC_000002.11:g.96961364T>G	VUS	1 lab	c8767e4344
1:229567261 ACTA1 G>C	1	229567261	229567261	G	C	ACTA1	c.1119C>G	NM_001100.4	NP_001091.1:p.(His373Gln)	NC_000001.10:g.229567261G>C	(Likely) pathogenic	1 lab	c877dcdfbb
X:153581453 FLNA T>G	X	153581453	153581453	T	G	FLNA	c.6118A>C	NM_001456.3	NP_001447.2:p.(Ser2040Arg)	NC_000023.10:g.153581453T>G	VUS	1 lab	c87ae8ea3b
5:180041124 FLT4 G>A	5	180041124	180041124	G	A	FLT4	c.3275C>T	NM_182925.5	NP_891555.2:p.(Thr1092Ile)	NC_000005.9:g.180041124G>A	(Likely) pathogenic	1 lab	c87c04c8f0
3:47084109 SETD2 T>C	3	47084109	47084109	T	C	SETD2				NC_000003.11:g.47084109T>C	(Likely) benign	1 lab	c87c11bd2b
8:41559470 ANK1 C>G	8	41559470	41559470	C	G	ANK1	c.2388+100G>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41559470C>G	(Likely) benign	1 lab	13ac0447bd
1:16258327 SPEN G>C	1	16258327	16258327	G	C	SPEN	c.5592G>C	NM_015001.3	NP_055816.2:p.(Lys1864Asn)	NC_000001.10:g.16258327G>C	VUS	1 lab	105273d760
1:196658654 CFH T>A	1	196658654	196658654	T	A	CFH	c.1069T>A	NM_000186.3	NP_000177.2:p.(Cys357Ser)	NC_000001.10:g.196658654T>A	VUS	1 lab	c883900e12
1:215848120 USH2A G>A	1	215848120	215848120	G	A	USH2A	c.13133C>T	NM_206933.2	NP_996816.2:p.(Pro4378Leu)	NC_000001.10:g.215848120G>A	VUS	1 lab	c883ef80bb
3:4856205 ITPR1 G>A	3	4856205	4856205	G	A	ITPR1	c.7471G>A	NM_002222.5	NP_002213.5:p.(Gly2491Arg)	NC_000003.11:g.4856205G>A	(Likely) pathogenic	1 lab	c885644465
11:119170254 CBL G>A	11	119170254	119170254	G	A	CBL				NC_000011.9:g.119170254G>A	(Likely) benign	1 lab	c8873bde6a
11:108168084 ATM C>A	11	108168084	108168084	C	A	ATM	c.4980C>A	NM_000051.4	NP_000042.3:p.(Asn1660Lys)	NC_000011.9:g.108168084C>A	VUS	1 lab	c889fc5139
19:55665454 TNNI3 C>T	19	55665454	55665454	C	T	TNNI3	c.493G>A	NM_000363.4	NP_000354.4:p.(Glu165Lys)	NC_000019.9:g.55665454C>T	(Likely) pathogenic	1 lab	13adadf040
8:38282194 FGFR1 G>C	8	38282194	38282194	G	C	FGFR1	c.769C>G	NM_023110.2	NP_075598.2:p.(Leu257Val)	NC_000008.10:g.38282194G>C	(Likely) pathogenic	1 lab	c88e5fd31b
10:104264051 SUFU C>T	10	104264051	104264051	C	T	SUFU	c.142C>T	NM_016169.3	NP_057253.2:p.(Gln48Ter)	NC_000010.10:g.104264051C>T	(Likely) pathogenic	1 lab	c892be660a
13:32972638 BRCA2 G>T	13	32972638	32972638	G	T	BRCA2	c.9988G>T	NM_000059.3	NP_000050.2:p.(Glu3330Ter)	NC_000013.10:g.32972638G>T	VUS	1 lab	c892c0c88c
20:49510280 ADNP C>T	20	49510280	49510280	C	T	ADNP	c.971G>A	NM_015339.5	NP_056154.1:p.(Ser324Asn)	NC_000020.10:g.49510280C>T	(Likely) benign	1 lab	10539040f5
16:23646621 PALB2 T>C	16	23646621	23646621	T	C	PALB2	c.1246A>G	NM_024675.3	NP_078951.2:p.(Met416Val)	NC_000016.9:g.23646621T>C	VUS	1 lab	c8946c6a4f
7:117144345 CFTR G>T	7	117144345	117144345	G	T	CFTR	c.92G>T	NM_000492.4	NP_000483.3:p.(Arg31Leu)	NC_000007.13:g.117144345G>T	VUS	1 lab	c89980ab92
4:114277025 ANK2 T>C	4	114277025	114277025	T	C	ANK2	c.4427-4954T>C	NM_020977.4	NP_066187.2:p.?	NC_000004.11:g.114277025T>C	(Likely) benign	1 lab	c89f8e724d
2:55874502 PNPT1 G>T	2	55874502	55874502	G	T	PNPT1	c.1582C>A	NM_033109.4	NP_149100.2:p.(Arg528Ser)	NC_000002.11:g.55874502G>T	VUS	1 lab	c8a30b737e
11:76871263 MYO7A G>C	11	76871263	76871263	G	C	MYO7A	c.1135G>C	NM_000260.4	NP_000251.3:p.(Gly379Arg)	NC_000011.9:g.76871263G>C	(Likely) pathogenic	1 lab	c8a6087ff8
19:6495957 TUBB4A C>T	19	6495957	6495957	C	T	TUBB4A	c.553G>A	NM_006087.4	NP_006078.2:p.(Ala185Thr)	NC_000019.9:g.6495957C>T	VUS	1 lab	c8a65c5cdc
1:24122986 GALE C>T	1	24122986	24122986	C	T	GALE	c.873+13G>A	NM_000403.4	NP_000394.2:p.?	NC_000001.10:g.24122986C>T	(Likely) benign	1 lab	c8a72373fa
12:49446009 KMT2D G>C	12	49446009	49446009	G	C	KMT2D	c.1457C>G	NM_003482.4	NP_003473.3:p.(Ser486Cys)	NC_000012.11:g.49446009G>C	VUS	1 lab	c8a7536441
2:47705428 MSH2 C>A	2	47705428	47705428	C	A	MSH2	c.2228C>A	NM_000251.3	NP_000242.1:p.(Ser743Ter)	NC_000002.11:g.47705428C>A	(Likely) pathogenic	1 lab	c8a83683f8
2:179558346 TTN T>C	2	179558346	179558346	T	C	TTN	c.31584A>G	NM_001267550.2	NP_001254479.2:p.(Pro10528=)	NC_000002.11:g.179558346T>C	(Likely) benign	1 lab	c8a9e96891
1:228548360 OBSCN G>A	1	228548360	228548360	G	A	OBSCN	c.19767G>A	NM_052843.3	NP_443075.3:p.(Glu6589=)	NC_000001.10:g.228548360G>A	(Likely) benign	1 lab	c8aaa369f8
19:50909579 POLD1 G>C	19	50909579	50909579	G	C	POLD1	c.1383G>C	NM_002691.4	NP_002682.2:p.(Gln461His)	NC_000019.9:g.50909579G>C	VUS	1 lab	c8ace9592b
18:19437128 MIB1 A>C	18	19437128	19437128	A	C	MIB1	c.2703A>C	NM_020774.3	NP_065825.1:p.(Arg901=)	NC_000018.9:g.19437128A>C	(Likely) benign	1 lab	c8f66b13a5
X:133547863 PHF6 C>G	X	133547863	133547863	C	G	PHF6	c.596C>G	NM_001015877.1	NP_001015877.1:p.(Ser199Cys)	NC_000023.10:g.133547863C>G	VUS	1 lab	c8ae27bf40
17:7802437 CHD3 G>A	17	7802437	7802437	G	A	CHD3	c.2260G>A	NM_001005273.3	NP_001005273.1:p.(Gly754Ser)	NC_000017.10:g.7802437G>A	VUS	1 lab	c8b01227a3
2:84921405 DNAH6 A>G	2	84921405	84921405	A	G	DNAH6	c.7325A>G	NM_001370.2	NP_001361.1:p.(Asn2442Ser)	NC_000002.11:g.84921405A>G	VUS	1 lab	1060a4d61c
2:207429789 ADAM23 CAG>C	2	207429789	207429791	CAG	C	ADAM23				NC_000002.11:g.207429790_207429791del	VUS	1 lab	c8b2e57596
8:100108613 VPS13B C>T	8	100108613	100108613	C	T	VPS13B	c.365C>T	NM_017890.5	NP_060360.3:p.(Pro122Leu)	NC_000008.10:g.100108613C>T	VUS	1 lab	1063a5e5e7
9:129455552 LMX1B C>T	9	129455552	129455552	C	T	LMX1B	c.691C>T	NM_002316.3	NP_002307.2:p.(Arg231Ter)	NC_000009.11:g.129455552C>T	(Likely) pathogenic	1 lab	c8b3723172
4:3478051 DOK7 T>C	4	3478051	3478051	T	C	DOK7	c.332-18T>C	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3478051T>C	(Likely) benign	1 lab	c8b3d7049b
5:56152573 MAP3K1 C>T	5	56152573	56152573	C	T	MAP3K1	c.629C>T	NM_005921.2	NP_005912.1:p.(Pro210Leu)	NC_000005.9:g.56152573C>T	VUS	1 lab	13af9ee8c4
2:167138227 SCN9A G>T	2	167138227	167138227	G	T	SCN9A	c.2033C>A	NM_002977.3	NP_002968.1:p.(Ala678Glu)	NC_000002.11:g.167138227G>T	VUS	1 lab	c8bcee8655
5:1878578 IRX4 C>A	5	1878578	1878578	C	A	IRX4	c.1143G>T	NM_001278635.1	NP_001265564.1:p.(Pro381=)	NC_000005.9:g.1878578C>A	(Likely) benign	1 lab	c8bebf2e96
3:46714821 ALS2CL C>G	3	46714821	46714821	C	G	ALS2CL	c.2472+8G>C	NM_147129.3	NP_667340.2:p.?	NC_000003.11:g.46714821C>G	(Likely) benign	1 lab	c8bf03cf6d
13:32972319 BRCA2 G>A	13	32972319	32972319	G	A	BRCA2	c.9669G>A	NM_000059.3	NP_000050.2:p.(Glu3223=)	NC_000013.10:g.32972319G>A	(Likely) benign	1 lab	c8c13b1304
2:179456744 TTN C>T	2	179456744	179456744	C	T	TTN	c.59887G>A	NM_001267550.2	NP_001254479.2:p.(Val19963Ile)	NC_000002.11:g.179456744C>T	(Likely) benign	1 lab	c8c17f8716
2:179611913 TTN T>A	2	179611913	179611913	T	A	TTN	c.11312-5265A>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611913T>A	VUS	1 lab	c8c26aa268
3:158364705 GFM1 T>C	3	158364705	158364705	T	C	GFM1				NC_000003.11:g.158364705T>C	(Likely) pathogenic	1 lab	c8c355a765
1:237965216 RYR2 C>T	1	237965216	237965216	C	T	RYR2	c.14151C>T	NM_001035.2	NP_001026.2:p.(Asn4717=)	NC_000001.10:g.237965216C>T	(Likely) benign	1 lab	c8c4b2a40e
1:94496539 ABCA4 C>T	1	94496539	94496539	C	T	ABCA4	c.4253+13G>A	NM_000350.3	NP_000341.2:p.?	NC_000001.10:g.94496539C>T	(Likely) benign	1 lab	c8c56c77ad
16:29923369 KCTD13 T>C	16	29923369	29923369	T	C	KCTD13	c.416A>G	NM_178863.5	NP_849194.1:p.(Gln139Arg)	NC_000016.9:g.29923369T>C	VUS	1 lab	c8c6502810
7:139661754 TBXAS1 C>T	7	139661754	139661754	C	T	TBXAS1	c.856C>T	NM_001061.7	NP_001052.3:p.(Arg286Ter)	NC_000007.13:g.139661754C>T	(Likely) pathogenic	1 lab	c8c7714d89
2:179418680 TTN A>C	2	179418680	179418680	A	C	TTN	c.89158T>G	NM_001267550.1	NP_001254479.1:p.(Ser29720Ala)	NC_000002.11:g.179418680A>C	VUS	1 lab	c8c7f844c8
17:59760174 BRIP1 G>A	17	59760174	59760174	G	A	BRIP1	c.*483C>T	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59760174G>A	(Likely) benign	1 lab	c8c92b51f1
8:31004568 WRN G>A	8	31004568	31004568	G	A	WRN	c.3384-1G>A	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.31004568G>A	(Likely) pathogenic	1 lab	c8c96d54fc
4:122782809 BBS7 G>A	4	122782809	122782809	G	A	BBS7	c.191C>T	NM_176824.3	NP_789794.1:p.(Pro64Leu)	NC_000004.11:g.122782809G>A	(Likely) benign	1 lab	13b1b2c6bd
5:13885212 DNAH5 C>T	5	13885212	13885212	C	T	DNAH5	c.2869G>A	NM_001369.2	NP_001360.1:p.(Glu957Lys)	NC_000005.9:g.13885212C>T	VUS	1 lab	c8cd1eebf6
3:186953896 MASP1 C>T	3	186953896	186953896	C	T	MASP1	c.1763G>A	NM_139125.3	NP_624302.1:p.(Gly588Asp)	NC_000003.11:g.186953896C>T	VUS	1 lab	c8ce350577
15:56388811 RFX7 C>T	15	56388811	56388811	C	T	RFX7	c.1115G>A	NM_022841.7	NP_073752.6:p.(Arg372Gln)	NC_000015.9:g.56388811C>T	(Likely) benign	1 lab	106606f4b2
1:201336072 TNNT2 C>T	1	201336072	201336072	C	T	TNNT2	c.170-73G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201336072C>T	(Likely) benign	1 lab	c8d20660e7
10:73490271 CDH23 A>G	10	73490271	73490271	A	G	CDH23	c.3625A>G	NM_022124.5	NP_071407.4:p.(Thr1209Ala)	NC_000010.10:g.73490271A>G	(Likely) benign	1 lab	c8d2a858de
12:88535682 CEP290 C>A	12	88535682	88535682	C	A	CEP290	c.-33G>T	NM_025114.3	NP_079390.3:p.?	NC_000012.11:g.88535682C>A	(Likely) benign	1 lab	c8d4f23e98
21:44486410 CBS G>A	21	44486410	44486410	G	A	CBS	c.394C>T	NM_000071.3	NP_000062.1:p.(Arg132Cys)	NC_000021.8:g.44486410G>A	(Likely) benign	1 lab	1067989b28
3:37091976 MLH1 G>C	3	37091976	37091976	G	C	MLH1	c.2104-1G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37091976G>C	(Likely) pathogenic	1 lab	c8d7979452
19:38990345 RYR1 C>T	19	38990345	38990345	C	T	RYR1	c.7098C>T	NM_000540.2	NP_000531.2:p.(Pro2366=)	NC_000019.9:g.38990345C>T	(Likely) benign	1 lab	c8d9571422
9:136303424 ADAMTS13 G>A	9	136303424	136303424	G	A	ADAMTS13	c.1643G>A	NM_139025.5	NP_620594.1:p.(Cys548Tyr)	NC_000009.11:g.136303424G>A	(Likely) pathogenic	1 lab	c8da1eaa16
19:38985018 RYR1 A>G	19	38985018	38985018	A	G	RYR1	c.6301A>G	NM_000540.2	NP_000531.2:p.(Met2101Val)	NC_000019.9:g.38985018A>G	(Likely) benign	1 lab	c8dd492305
10:67829049 CTNNA3 G>T	10	67829049	67829049	G	T	CTNNA3	c.2159+17C>A	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.67829049G>T	(Likely) benign	1 lab	c8e016292e
17:1558827 PRPF8 C>T	17	1558827	1558827	C	T	PRPF8	c.5804G>A	NM_006445.4	NP_006436.3:p.(Arg1935His)	NC_000017.10:g.1558827C>T	(Likely) pathogenic	1 lab	c8e0303d19
12:80750673 OTOGL T>G	12	80750673	80750673	T	G	OTOGL				NC_000012.11:g.80750673T>G	VUS	1 lab	d77bc318af
2:165947078 SCN3A C>T	2	165947078	165947078	C	T	SCN3A	c.5585G>A	NM_006922.4	NP_008853.3:p.(Gly1862Asp)	NC_000002.11:g.165947078C>T	VUS	1 lab	c8e222814e
5:129037233 ADAMTS19 G>A	5	129037233	129037233	G	A	ADAMTS19	c.3107G>A	NM_133638.6	NP_598377.4:p.(Arg1036His)	NC_000005.9:g.129037233G>A	VUS	1 lab	1069916d5f
2:227886773 COL4A4 A>G	2	227886773	227886773	A	G	COL4A4	c.4207T>C	NM_000092.4	NP_000083.3:p.(Ser1403Pro)	NC_000002.11:g.227886773A>G	(Likely) benign	1 lab	c8e5d4d4b2
18:32398138 DTNA G>A	18	32398138	32398138	G	A	DTNA	c.720G>A	NM_001390.4	NP_001381.2:p.(Pro240=)	NC_000018.9:g.32398138G>A	(Likely) benign	1 lab	c8e90468cf
13:32945144 BRCA2 G>A	13	32945144	32945144	G	A	BRCA2	c.8539G>A	NM_000059.3	NP_000050.2:p.(Glu2847Lys)	NC_000013.10:g.32945144G>A	VUS	1 lab	c8f47ab854
3:48612561 COL7A1 T>C	3	48612561	48612561	T	C	COL7A1	c.6217-2A>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48612561T>C	(Likely) pathogenic	1 lab	c8f5e32611
1:94476812 ABCA4 A>G	1	94476812	94476812	A	G	ABCA4	c.5584+6T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94476812A>G	VUS	1 lab	c8f5efff0d
2:39285837 SOS1 C>T	2	39285837	39285837	C	T	SOS1	c.322G>A	NM_005633.3	NP_005624.2:p.(Glu108Lys)	NC_000002.11:g.39285837C>T	(Likely) pathogenic	1 lab	c8f607cc1f
11:128781312 KCNJ5 G>A	11	128781312	128781312	G	A	KCNJ5	c.144G>A	NM_000890.3	NP_000881.3:p.(Lys48=)	NC_000011.9:g.128781312G>A	(Likely) benign	1 lab	c8fef59734
6:102337584 GRIK2 C>A	6	102337584	102337584	C	A	GRIK2	c.1594C>A	NM_021956.5	NP_068775.1:p.(Pro532Thr)	NC_000006.11:g.102337584C>A	VUS	1 lab	106b5fe0dd
11:72019643 CLPB G>A	11	72019643	72019643	G	A	CLPB	c.1084C>T	NM_030813.5	NP_110440.1:p.(Arg362Trp)	NC_000011.9:g.72019643G>A	VUS	1 lab	c905fabf2d
19:50098641 PRR12 G>A	19	50098641	50098641	G	A	PRR12	c.1049G>A	NM_020719.3	NP_065770.1:p.(Gly350Asp)	NC_000019.9:g.50098641G>A	VUS	1 lab	c906c957cc
3:33114036 GLB1 G>A	3	33114036	33114036	G	A	GLB1	c.245C>T	NM_000404.4	NP_000395.3:p.(Thr82Met)	NC_000003.11:g.33114036G>A	(Likely) pathogenic	1 lab	c90c45fc3c
14:102499646 DYNC1H1 G>A	14	102499646	102499646	G	A	DYNC1H1	c.10238G>A	NM_001376.5	NP_001367.2:p.(Arg3413His)	NC_000014.8:g.102499646G>A	VUS	1 lab	c90ead995c
9:140638416 EHMT1 G>A	9	140638416	140638416	G	A	EHMT1	c.1044G>A	NM_024757.4	NP_079033.4:p.(Ser348=)	NC_000009.11:g.140638416G>A	(Likely) benign	1 lab	c9125db961
19:6684583 C3 C>T	19	6684583	6684583	C	T	C3	c.4108G>A	NM_000064.3	NP_000055.2:p.(Ala1370Thr)	NC_000019.9:g.6684583C>T	VUS	1 lab	c91276b342
5:149636387 CAMK2A C>G	5	149636387	149636387	C	G	CAMK2A	c.280G>C	NM_015981.3	NP_057065.2:p.(Gly94Arg)	NC_000005.9:g.149636387C>G	VUS	1 lab	c9141af9e5
14:23857443 MYH6 A>T	14	23857443	23857443	A	T	MYH6	c.4280T>A	NM_002471.3	NP_002462.2:p.(Ile1427Lys)	NC_000014.8:g.23857443A>T	VUS	1 lab	c915c4e6bc
6:32943060 BRD2 GGGGTGT>G	6	32943060	32943067	GGGGTGT	G	BRD2	c.334-99_334-94del	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32943062_32943067del	(Likely) benign	1 lab	13bb944b71
6:33408663 SYNGAP1 C>T	6	33408663	33408663	C	T	SYNGAP1	c.1834C>T	NM_006772.3	NP_006763.2:p.(Gln612Ter)	NC_000006.11:g.33408663C>T	(Likely) pathogenic	1 lab	c919c8f686
8:106810999 ZFPM2 C>T	8	106810999	106810999	C	T	ZFPM2	c.787C>T	NM_012082.3	NP_036214.2:p.(Arg263Trp)	NC_000008.10:g.106810999C>T	VUS	1 lab	c91b778db9
22:29121081 CHEK2 T>C	22	29121081	29121081	T	C	CHEK2	c.476A>G	NM_007194.4	NP_009125.1:p.(Tyr159Cys)	NC_000022.10:g.29121081T>C	VUS	1 lab	c91c15c48f
13:22077225 MICU2 T>C	13	22077225	22077225	T	C	MICU2	c.773A>G	NM_152726.3	NP_689939.1:p.(Asn258Ser)	NC_000013.10:g.22077225T>C	VUS	1 lab	1072f23a5e
2:166898939 SCN1A A>G	2	166898939	166898939	A	G	SCN1A	c.2044-5T>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166898939A>G	(Likely) benign	1 lab	13bfc620be
17:76117001 TMC6 C>T	17	76117001	76117001	C	T	TMC6	c.1536-88G>A	NM_001127198.2	NP_001120670.1:p.?	NC_000017.10:g.76117001C>T	(Likely) benign	1 lab	c9219b40b6
19:1005516 GRIN3B G>T	19	1005516	1005516	G	T	GRIN3B	c.2016G>T	NM_138690.2	NP_619635.1:p.(Lys672Asn)	NC_000019.9:g.1005516G>T	VUS	1 lab	c9226cc6bb
9:139391145 NOTCH1 G>A	9	139391145	139391145	G	A	NOTCH1	c.7046C>T	NM_017617.5	NP_060087.3:p.(Pro2349Leu)	NC_000009.11:g.139391145G>A	(Likely) benign	1 lab	c923a6b42d
21:45716336 AIRE C>T	21	45716336	45716336	C	T	AIRE	c.1566+8C>T	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45716336C>T	(Likely) benign	1 lab	c923d18efe
8:100831066 VPS13B AC>A	8	100831066	100831067	AC	A	VPS13B	c.8647del	NM_017890.4	NP_060360.3:p.(Leu2883CysfsTer4)	NC_000008.10:g.100831067del	(Likely) pathogenic	1 lab	c925e69d23
2:110919263 NPHP1 G>A	2	110919263	110919263	G	A	NPHP1	c.1039C>T	NM_000272.4	NP_000263.2:p.(Arg347Ter)	NC_000002.11:g.110919263G>A	(Likely) pathogenic	1 lab	13c03e74d9
15:63336212 TPM1 T>A	15	63336212	63336212	T	A	TPM1	c.115-14T>A	NM_001018004.2	NP_001018004.1:p.?	NC_000015.9:g.63336212T>A	VUS	1 lab	13c3c3fb62
12:109541444 UNG CT>C	12	109541444	109541454	CT	C	UNG	c.801+38del	NM_080911.3	NP_550433.1:p.?	NC_000012.11:g.109541454del	(Likely) benign	1 lab	13c4f13662
21:36259238 RUNX1 G>A	21	36259238	36259238	G	A	RUNX1	c.253C>T	NM_001754.5	NP_001745.2:p.(His85Tyr)	NC_000021.8:g.36259238G>A	VUS	1 lab	c93a0b8051
1:156108335 LMNA C>T	1	156108335	156108335	C	T	LMNA				NC_000001.10:g.156108335C>T	(Likely) benign	1 lab	c93bf29423
2:113885277 IL1RN C>T	2	113885277	113885277	C	T	IL1RN	c.85C>T	NM_173841.2	NP_776213.1:p.(Arg29Ter)	NC_000002.11:g.113885277C>T	(Likely) pathogenic	1 lab	c93ea1a022
X:605337 SHOX A>C	X	605337	605337	A	C	SHOX	c.845A>C	NM_000451.3	NP_000442.1:p.(Lys282Thr)	NC_000023.10:g.605337A>C	VUS	1 lab	c93f715bf2
X:21900736 MBTPS2 A>G	X	21900736	21900736	A	G	MBTPS2	c.1523A>G	NM_015884.4	NP_056968.1:p.(Asn508Ser)	NC_000023.10:g.21900736A>G	(Likely) pathogenic	1 lab	c940b44e82
X:46480455 SLC9A7 C>A	X	46480455	46480455	C	A	SLC9A7	c.1780G>T	NM_001257291.2	NP_001244220.1:p.(Glu594Ter)	NC_000023.10:g.46480455C>A	VUS	1 lab	c94af47a02
2:241723198 KIF1A G>C	2	241723198	241723198	G	C	KIF1A	c.756C>G	NM_001244008.1	NP_001230937.1:p.(Ser252Arg)	NC_000002.11:g.241723198G>C	VUS	1 lab	c94b669cb1
20:48098567 KCNB1 C>T	20	48098567	48098567	C	T	KCNB1	c.451G>A	NM_004975.4	NP_004966.1:p.(Glu151Lys)	NC_000020.10:g.48098567C>T	VUS	1 lab	c94cdff422
11:74168447 KCNE3 A>G	11	74168447	74168447	A	G	KCNE3	c.162T>C	NM_005472.4	NP_005463.1:p.(Asp54=)	NC_000011.9:g.74168447A>G	(Likely) benign	1 lab	c9501cf39a
1:103440381 COL11A1 C>T	1	103440381	103440381	C	T	COL11A1	c.2808+5G>A	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103440381C>T	VUS	1 lab	c9507e8d10
18:29116462 DSG2 T>C	18	29116462	29116462	T	C	DSG2	c.1651+70T>C	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29116462T>C	(Likely) benign	1 lab	c95421d356
2:228131752 COL4A3 G>A	2	228131752	228131752	G	A	COL4A3	c.1452G>A	NM_000091.4	NP_000082.2:p.(Gly484=)	NC_000002.11:g.228131752G>A	(Likely) benign	1 lab	c9568602f1
15:48539146 SLC12A1 C>T	15	48539146	48539146	C	T	SLC12A1	c.1493C>T	NM_000338.2	NP_000329.2:p.(Ala498Val)	NC_000015.9:g.48539146C>T	VUS	1 lab	c957760d07
X:79989617 BRWD3 C>G	X	79989617	79989617	C	G	BRWD3	c.1086G>C	NM_153252.5	NP_694984.5:p.(Thr362=)	NC_000023.10:g.79989617C>G	(Likely) pathogenic	1 lab	c95a0ba151
2:167108268 SCN9A G>T	2	167108268	167108268	G	T	SCN9A	c.3439+7C>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167108268G>T	(Likely) benign	1 lab	c95ae0ca22
1:152276871 FLG A>G	1	152276871	152276871	A	G	FLG	c.10491T>C	NM_002016.1	NP_002007.1:p.(Asp3497=)	NC_000001.10:g.152276871A>G	(Likely) benign	1 lab	c95b04d0ff
6:152832196 SYNE1 G>A	6	152832196	152832196	G	A	SYNE1	c.352C>T	NM_182961.3	NP_892006.3:p.(Arg118Ter)	NC_000006.11:g.152832196G>A	(Likely) pathogenic	1 lab	c95d6e2866
3:37056040 MLH1 G>A	3	37056040	37056040	G	A	MLH1	c.790+5G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37056040G>A	(Likely) pathogenic	1 lab	c961385f49
18:48575249 SMAD4 C>A	18	48575249	48575249	C	A	SMAD4	c.424+19C>A	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48575249C>A	(Likely) benign	1 lab	c96458938a
7:6022516 PMS2 C>T	7	6022516	6022516	C	T	PMS2	c.2113G>A	NM_000535.7	NP_000526.2:p.(Glu705Lys)	NC_000007.13:g.6022516C>T	(Likely) pathogenic	1 lab	c966ab8475
2:179439776 TTN C>T	2	179439776	179439776	C	T	TTN	c.71083G>A	NM_001267550.2	NP_001254479.2:p.(Glu23695Lys)	NC_000002.11:g.179439776C>T	VUS	1 lab	c9696096b3
21:47542852 COL6A2 G>A	21	47542852	47542852	G	A	COL6A2	c.1671+1G>A	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47542852G>A	(Likely) pathogenic	1 lab	c96ff41d19
2:47698180 MSH2 G>T	2	47698180	47698180	G	T	MSH2	c.1738G>T	NM_000251.2	NP_000242.1:p.(Glu580Ter)	NC_000002.11:g.47698180G>T	(Likely) pathogenic	1 lab	c97036429b
8:10470655 RP1L1 T>A	8	10470655	10470655	T	A	RP1L1	c.953A>T	NM_178857.5	NP_849188.4:p.(Asp318Val)	NC_000008.10:g.10470655T>A	VUS	1 lab	c97036d23d
12:32945769 PKP2 G>C	12	32945769	32945769	G	C	PKP2	c.2490-104C>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945769G>C	(Likely) benign	1 lab	c972777396
22:19748411 TBX1 T>G	22	19748411	19748411	T	G	TBX1	c.35-17T>G	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19748411T>G	(Likely) benign	1 lab	c975d9e315
17:41247624 BRCA1 A>C	17	41247624	41247624	A	C	BRCA1	c.670+239T>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41247624A>C	(Likely) benign	1 lab	c97c992084
12:70004359 LRRC10 A>T	12	70004359	70004359	A	T	LRRC10	c.260T>A	NM_201550.3	NP_963844.2:p.(Phe87Tyr)	NC_000012.11:g.70004359A>T	VUS	1 lab	c97dbe1b4e
13:36909283 SPART G>A	13	36909283	36909283	G	A	SPART	c.685C>T	NM_015087.4	NP_055902.1:p.(Gln229Ter)	NC_000013.10:g.36909283G>A	(Likely) pathogenic	1 lab	c982ed9bd8
6:51929809 PKHD1 A>G	6	51929809	51929809	A	G	PKHD1	c.920T>C	NM_138694.4	NP_619639.3:p.(Ile307Thr)	NC_000006.11:g.51929809A>G	(Likely) pathogenic	1 lab	c9868940fc
19:1220681 STK11 CT>C	19	1220681	1220683	CT	C	STK11	c.701del	NM_000455.4	NP_000446.1:p.(Phe234SerfsTer53)	NC_000019.9:g.1220683del	(Likely) pathogenic	1 lab	c98925769b
8:72156897 EYA1 G>A	8	72156897	72156897	G	A	EYA1	c.1081C>T	NM_000503.4	NP_000494.2:p.(Arg361Ter)	NC_000008.10:g.72156897G>A	(Likely) pathogenic	1 lab	c98d40b341
2:71185197 ATP6V1B1 G>A	2	71185197	71185197	G	A	ATP6V1B1	c.196G>A	NM_001692.3	NP_001683.2:p.(Val66Ile)	NC_000002.11:g.71185197G>A	VUS	1 lab	c98dbb1d36
X:38163971 RPGR G>C	X	38163971	38163971	G	C	RPGR	c.851C>G	NM_001034853.1	NP_001030025.1:p.(Ser284Ter)	NC_000023.10:g.38163971G>C	(Likely) pathogenic	1 lab	c98f2f4302
17:29533274 NF1 G>A	17	29533274	29533274	G	A	NF1	c.1277G>A	NM_001042492.3	NP_001035957.1:p.(Trp426Ter)	NC_000017.10:g.29533274G>A	(Likely) pathogenic	1 lab	c98fa2c15c
14:23858205 MYH6 C>T	14	23858205	23858205	C	T	MYH6	c.4038G>A	NM_002471.3	NP_002462.2:p.(Arg1346=)	NC_000014.8:g.23858205C>T	VUS	1 lab	c98ff8b9a2
22:19455376 UFD1 C>T	22	19455376	19455376	C	T	UFD1	c.422+20G>A	NM_005659.7	NP_005650.2:p.?	NC_000022.10:g.19455376C>T	(Likely) benign	1 lab	10820309b1
12:133236000 POLE C>T	12	133236000	133236000	C	T	POLE	c.3156G>A	NM_006231.2	NP_006222.2:p.(Thr1052=)	NC_000012.11:g.133236000C>T	(Likely) benign	1 lab	c9914d6503
1:228473873 OBSCN C>T	1	228473873	228473873	C	T	OBSCN	c.10386C>T	NM_001271223.2	NP_001258152.2:p.(Tyr3462=)	NC_000001.10:g.228473873C>T	(Likely) benign	1 lab	c993460fb9
16:1507238 CLCN7 A>G	16	1507238	1507238	A	G	CLCN7	c.822+17T>C	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1507238A>G	(Likely) benign	1 lab	ccd8bb25a5
1:152276583 FLG C>G	1	152276583	152276583	C	G	FLG	c.10779G>C	NM_002016.1	NP_002007.1:p.(Glu3593Asp)	NC_000001.10:g.152276583C>G	(Likely) benign	1 lab	c997115d17
16:68863629 CDH1 A>G	16	68863629	68863629	A	G	CDH1	c.2368A>G	NM_004360.5	NP_004351.1:p.(Thr790Ala)	NC_000016.9:g.68863629A>G	(Likely) benign	1 lab	c9980685be
16:1621405 IFT140 T>A	16	1621405	1621405	T	A	IFT140	c.1652+3A>T	NM_014714.3	NP_055529.2:p.?	NC_000016.9:g.1621405T>A	VUS	1 lab	c99861c211
5:127681204 FBN2 C>G	5	127681204	127681204	C	G	FBN2	c.3062G>C	NM_001999.4	NP_001990.2:p.(Arg1021Pro)	NC_000005.9:g.127681204C>G	VUS	1 lab	c99a79c654
1:215821092 USH2A G>C	1	215821092	215821092	G	C	USH2A	c.14583-20C>G	NM_206933.4	NP_996816.3:p.?	NC_000001.10:g.215821092G>C	(Likely) benign	1 lab	c99c47ab44
13:32930692 BRCA2 C>A	13	32930692	32930692	C	A	BRCA2	c.7563C>A	NM_000059.3	NP_000050.2:p.(Ile2521=)	NC_000013.10:g.32930692C>A	(Likely) benign	1 lab	c9a02f1113
6:10400739 TFAP2A G>A	6	10400739	10400739	G	A	TFAP2A	c.973C>T	NM_001372066.1	NP_001358995.1:p.(Arg325Ter)	NC_000006.11:g.10400739G>A	(Likely) pathogenic	1 lab	c9a08c1387
2:167138340 SCN9A G>A	2	167138340	167138340	G	A	SCN9A	c.1942-22C>T	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138340G>A	(Likely) benign	1 lab	c9a23e9cc3
13:24455833 MIPEP C>T	13	24455833	24455833	C	T	MIPEP	c.452+5G>A	NM_005932.3	NP_005923.2:p.?	NC_000013.10:g.24455833C>T	VUS	1 lab	c9a6a55d2e
10:69299395 CTNNA3 TA>T	10	69299395	69299398	TA	T	CTNNA3	c.324del	NM_013266.3	NP_037398.2:p.(Phe108LeufsTer25)	NC_000010.10:g.69299398del	VUS	1 lab	c9a95590f0
10:73269961 CDH23 C>T	10	73269961	73269961	C	T	CDH23	c.268C>T	NM_022124.5	NP_071407.4:p.(Arg90Trp)	NC_000010.10:g.73269961C>T	VUS	1 lab	c9aa7038c7
17:54912144 DGKE G>A	17	54912144	54912144	G	A	DGKE	c.-13G>A	NM_003647.3	NP_003638.1:p.?	NC_000017.10:g.54912144G>A	VUS	1 lab	c9aa9100f4
5:43619224 NNT A>G	5	43619224	43619224	A	G	NNT	c.687+3A>G	NM_012343.3	NP_036475.3:p.?	NC_000005.9:g.43619224A>G	(Likely) benign	1 lab	c9ad6beb56
2:39240663 SOS1 T>C	2	39240663	39240663	T	C	SOS1	c.2105A>G	NM_005633.3	NP_005624.2:p.(Tyr702Cys)	NC_000002.11:g.39240663T>C	VUS	1 lab	c9ae700bcb
5:142782887 NR3C1 TC>T	5	142782887	142782888	TC	T	NR3C1	c.-126del	NM_000176.3	NP_000167.1:p.?	NC_000005.9:g.142782888del	(Likely) benign	1 lab	c9b126e4b3
9:95480822 BICD2 T>C	9	95480822	95480822	T	C	BICD2	c.2105A>G	NM_015250.3	NP_056065.1:p.(Gln702Arg)	NC_000009.11:g.95480822T>C	VUS	1 lab	c9b2035fa5
13:32914569 BRCA2 C>G	13	32914569	32914569	C	G	BRCA2	c.6077C>G	NM_000059.3	NP_000050.2:p.(Thr2026Arg)	NC_000013.10:g.32914569C>G	VUS	1 lab	c9b3caa80e
12:13717396 GRIN2B G>A	12	13717396	13717396	G	A	GRIN2B	c.2776C>T	NM_000834.5	NP_000825.2:p.(Arg926Ter)	NC_000012.11:g.13717396G>A	(Likely) pathogenic	1 lab	c9b5f1e4be
4:84193235 COQ2 C>T	4	84193235	84193235	C	T	COQ2	c.778+5G>A	NM_015697.7	NP_056512.5:p.?	NC_000004.11:g.84193235C>T	VUS	1 lab	c9b8606d27
17:41226515 BRCA1 G>C	17	41226515	41226515	G	C	BRCA1	c.4508C>G	NM_007294.4	NP_009225.1:p.(Ser1503Ter)	NC_000017.10:g.41226515G>C	(Likely) pathogenic	1 lab	c9bb11c4f7
2:202131495 CASP8 G>T	2	202131495	202131495	G	T	CASP8	c.463G>T	NM_001080125.1	NP_001073594.1:p.(Ala155Ser)	NC_000002.11:g.202131495G>T	VUS	1 lab	c9bf2180ce
6:158535864 SERAC1 G>A	6	158535864	158535864	G	A	SERAC1	c.1641C>T	NM_032861.4	NP_116250.3:p.(Arg547=)	NC_000006.11:g.158535864G>A	(Likely) benign	1 lab	35296ec6c0
3:4776896 ITPR1 C>T	3	4776896	4776896	C	T	ITPR1	c.5357C>T	NM_001168272.2	NP_001161744.1:p.(Ala1786Val)	NC_000003.11:g.4776896C>T	VUS	1 lab	10872c95c3
5:74712811 CERT1 C>T	5	74712811	74712811	C	T	CERT1	c.1111G>A	NM_001130105.1	NP_001123577.1:p.(Gly371Arg)	NC_000005.9:g.74712811C>T	(Likely) pathogenic	1 lab	c9c1a8c011
18:19751954 GATA6 G>A	18	19751954	19751954	G	A	GATA6	c.849G>A	NM_005257.5	NP_005248.2:p.(Ala283=)	NC_000018.9:g.19751954G>A	(Likely) benign	1 lab	c9c36c65a4
12:54338955 HOXC13 A>C	12	54338955	54338955	A	C	HOXC13	c.908A>C	NM_017410.2	NP_059106.2:p.(Gln303Pro)	NC_000012.11:g.54338955A>C	VUS	1 lab	c9c3ebc376
15:64680168 TRIP4 G>A	15	64680168	64680168	G	A	TRIP4	c.101+5G>A	NM_016213.4	NP_057297.2:p.?	NC_000015.9:g.64680168G>A	VUS	1 lab	c9e767bf6b
4:88964609 PKD2 G>C	4	88964609	88964609	G	C	PKD2	c.1319G>C	NM_000297.4	NP_000288.1:p.(Arg440Thr)	NC_000004.11:g.88964609G>C	(Likely) pathogenic	1 lab	c9cbaf9482
16:4383398 GLIS2 G>T	16	4383398	4383398	G	T	GLIS2	c.223G>T	NM_032575.2	NP_115964.2:p.(Ala75Ser)	NC_000016.9:g.4383398G>T	(Likely) benign	1 lab	c33d13452c
22:36962523 CACNG2 T>A	22	36962523	36962523	T	A	CACNG2				NC_000022.10:g.36962523T>A	VUS	1 lab	c9cd85502d
11:108237014 ATM T>G	11	108237014	108237014	T	G	ATM	c.*779T>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108237014T>G	(Likely) benign	1 lab	c9cdf10ff6
5:112162825 APC G>T	5	112162825	112162825	G	T	APC	c.1429G>T	NM_000038.6	NP_000029.2:p.(Glu477Ter)	NC_000005.9:g.112162825G>T	(Likely) pathogenic	1 lab	c9ce59db70
13:20717289 GJA3 C>T	13	20717289	20717289	C	T	GJA3	c.139G>A	NM_021954.3	NP_068773.2:p.(Asp47Asn)	NC_000013.10:g.20717289C>T	VUS	1 lab	c9d02ee5e0
X:100653081 GLA T>C	X	100653081	100653081	T	C	GLA	c.1006A>G	NM_000169.2	NP_000160.1:p.(Asn336Asp)	NC_000023.10:g.100653081T>C	(Likely) benign	1 lab	c9d5a8f8b2
14:64522722 SYNE2 G>A	14	64522722	64522722	G	A	SYNE2	c.9805G>A	NM_182914.2	NP_878918.2:p.(Val3269Met)	NC_000014.8:g.64522722G>A	(Likely) benign	1 lab	c9d7210810
21:44839299 SIK1 C>T	21	44839299	44839299	C	T	SIK1	c.1179G>A	NM_173354.5	NP_775490.2:p.(Pro393=)	NC_000021.8:g.44839299C>T	(Likely) benign	1 lab	13ceb2d965
X:18942621 PHKA2 T>C	X	18942621	18942621	T	C	PHKA2	c.1592A>G	NM_000292.2	NP_000283.1:p.(Tyr531Cys)	NC_000023.10:g.18942621T>C	VUS	1 lab	c9e0ac458e
X:48386620 EBP A>C	X	48386620	48386620	A	C	EBP	c.470-2A>C	NM_006579.3	NP_006570.1:p.?	NC_000023.10:g.48386620A>C	(Likely) pathogenic	1 lab	c9e109c98a
10:95385411 PDE6C G>A	10	95385411	95385411	G	A	PDE6C	c.939+5G>A	NM_006204.3	NP_006195.3:p.?	NC_000010.10:g.95385411G>A	VUS	1 lab	c9e1cfd441
12:15679208 PTPRO G>A	12	15679208	15679208	G	A	PTPRO				NC_000012.11:g.15679208G>A	(Likely) benign	1 lab	c9e2b7bd9e
X:153296283 MECP2 G>A	X	153296283	153296283	G	A	MECP2	c.996C>T	NM_004992.4	NP_004983.1:p.(Ser332=)	NC_000023.10:g.153296283G>A	(Likely) benign	1 lab	1089bb4f3d
7:117199706 CFTR A>G	7	117199706	117199706	A	G	CFTR	c.1581A>G	NM_000492.3	NP_000483.3:p.(Glu527=)	NC_000007.13:g.117199706A>G	(Likely) benign	1 lab	c9e8832baf
2:47708012 MSH2 T>G	2	47708012	47708012	T	G	MSH2	c.2634+2T>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47708012T>G	(Likely) pathogenic	1 lab	c9e89a465e
16:23641259 PALB2 G>A	16	23641259	23641259	G	A	PALB2	c.2216C>T	NM_024675.3	NP_078951.2:p.(Pro739Leu)	NC_000016.9:g.23641259G>A	(Likely) benign	1 lab	c9eca6e62e
20:42788456 JPH2 T>TGG	20	42788456	42788458	T	TGG	JPH2	c.969_970dup	NM_020433.5	NP_065166.2:p.(His324ProfsTer185)	NC_000020.10:g.42788457_42788458dup	VUS	1 lab	c9ed5f9fde
3:47888490 DHX30 A>ATG	3	47888490	47888491	A	ATG	DHX30	c.1928_1929insTG	NM_138615.3	NP_619520.1:p.(Glu643AspfsTer14)	NC_000003.11:g.47888490_47888491insTG	VUS	1 lab	108a2f9bcf
6:44272842 AARS2 T>C	6	44272842	44272842	T	C	AARS2	c.1528A>G	NM_020745.4	NP_065796.2:p.(Thr510Ala)	NC_000006.11:g.44272842T>C	(Likely) pathogenic	1 lab	c9f0763679
X:49087325 CACNA1F T>A	X	49087325	49087325	T	A	CACNA1F	c.508A>T	NM_005183.4	NP_005174.2:p.(Ile170Phe)	NC_000023.10:g.49087325T>A	VUS	1 lab	c9f2cc5eed
15:43067395 TTBK2 G>T	15	43067395	43067395	G	T	TTBK2	c.1936C>A	NM_173500.3	NP_775771.3:p.(Gln646Lys)	NC_000015.9:g.43067395G>T	VUS	1 lab	c9f3fbfc2d
13:52532679 ATP7B A>G	13	52532679	52532679	A	G	ATP7B	c.2123T>C	NM_000053.3	NP_000044.2:p.(Leu708Pro)	NC_000013.10:g.52532679A>G	(Likely) pathogenic	1 lab	c9f40af1be
8:55542769 RP1 C>A	8	55542769	55542769	C	A	RP1	c.6327C>A	NM_006269.2	NP_006260.1:p.(Cys2109Ter)	NC_000008.10:g.55542769C>A	VUS	1 lab	c9f5855a79
1:26139919 SELENON C>T	1	26139919	26139919	C	T	SELENON	c.1388-453C>T	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139919C>T	(Likely) benign	1 lab	13cec57197
2:179605856 TTN A>G	2	179605856	179605856	A	G	TTN	c.11390T>C	NM_133432.3	NP_597676.3:p.(Met3797Thr)	NC_000002.11:g.179605856A>G	VUS	1 lab	13d6cc04dc
3:37053358 MLH1 G>T	3	37053358	37053358	G	T	MLH1	c.588+5G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053358G>T	(Likely) pathogenic	1 lab	c9f83c369b
2:29297068 PCARE C>T	2	29297068	29297068	C	T	PCARE				NC_000002.11:g.29297068C>T	(Likely) benign	1 lab	c9f84d6b9c
6:70944296 COL9A1 C>G	6	70944296	70944296	C	G	COL9A1	c.2260G>C	NM_001851.4	NP_001842.3:p.(Gly754Arg)	NC_000006.11:g.70944296C>G	VUS	1 lab	c9f88364b4
15:27018797 GABRB3 G>A	15	27018797	27018797	G	A	GABRB3	c.75C>T	NM_021912.5	NP_068712.1:p.(Pro25=)	NC_000015.9:g.27018797G>A	(Likely) benign	1 lab	13e1ec9829
2:170070389 LRP2 T>C	2	170070389	170070389	T	C	LRP2	c.5827-9A>G	NM_004525.2	NP_004516.2:p.?	NC_000002.11:g.170070389T>C	(Likely) pathogenic	1 lab	c9fa475ba3
19:49713513 TRPM4 C>A	19	49713513	49713513	C	A	TRPM4	c.3179C>A	NM_017636.3	NP_060106.2:p.(Ala1060Glu)	NC_000019.9:g.49713513C>A	VUS	1 lab	c9fdcea4dd
13:32905169 BRCA2 T>G	13	32905169	32905169	T	G	BRCA2	c.793+2T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32905169T>G	(Likely) pathogenic	1 lab	c9fe215e93
12:88520199 CEP290 T>C	12	88520199	88520199	T	C	CEP290	c.959A>G	NM_025114.3	NP_079390.3:p.(Lys320Arg)	NC_000012.11:g.88520199T>C	VUS	1 lab	c9ff0c3da1
22:41923334 ACO2 G>A	22	41923334	41923334	G	A	ACO2	c.1996G>A	NM_001098.3	NP_001089.1:p.(Gly666Ser)	NC_000022.10:g.41923334G>A	(Likely) pathogenic	1 lab	ca002c9172
X:22112186 PHEX C>G	X	22112186	22112186	C	G	PHEX	c.818C>G	NM_000444.6	NP_000435.3:p.(Ser273Ter)	NC_000023.10:g.22112186C>G	(Likely) pathogenic	1 lab	ca00b9bfc5
9:131454979 SET C>T	9	131454979	131454979	C	T	SET				NC_000009.11:g.131454979C>T	VUS	1 lab	ca025f7778
19:13418597 CACNA1A T>C	19	13418597	13418597	T	C	CACNA1A	c.1988A>G	NM_001127221.2	NP_001120693.1:p.(Gln663Arg)	NC_000019.9:g.13418597T>C	VUS	1 lab	ca047247a7
22:23917278 IGLL1 A>T	22	23917278	23917278	A	T	IGLL1				NC_000022.10:g.23917278A>T	(Likely) benign	1 lab	13dcf658f9
16:2140757 PKD1 A>T	16	2140757	2140757	A	T	PKD1	c.12056T>A	NM_001009944.2	NP_001009944.2:p.(Leu4019Ter)	NC_000016.9:g.2140757A>T	(Likely) pathogenic	1 lab	13dcf9856e
17:59938893 BRIP1 G>A	17	59938893	59938893	G	A	BRIP1	c.8C>T	NM_032043.3	NP_114432.2:p.(Ser3Leu)	NC_000017.10:g.59938893G>A	VUS	1 lab	ca06127098
X:153172020 AVPR2 C>G	X	153172020	153172020	C	G	AVPR2	c.954C>G	NM_000054.4	NP_000045.1:p.(Ser318Arg)	NC_000023.10:g.153172020C>G	(Likely) pathogenic	1 lab	ca0814f503
2:145157151 ZEB2 C>A	2	145157151	145157151	C	A	ZEB2	c.1603G>T	NM_014795.4	NP_055610.1:p.(Glu535Ter)	NC_000002.11:g.145157151C>A	(Likely) pathogenic	1 lab	ca0e8ee23f
2:179429491 TTN T>C	2	179429491	179429491	T	C	TTN	c.81368A>G	NM_001267550.2	NP_001254479.2:p.(Asn27123Ser)	NC_000002.11:g.179429491T>C	VUS	1 lab	ca2086fb48
14:31353792 COCH CTT>C	14	31353792	31353795	CTT	C	COCH	c.665_666del	NM_004086.2	NP_004077.1:p.(Phe222TyrfsTer19)	NC_000014.8:g.31353794_31353795del	(Likely) benign	1 lab	ca0f5cbc02
6:143094663 HIVEP2 C>T	6	143094663	143094663	C	T	HIVEP2	c.1213G>A	NM_006734.4	NP_006725.3:p.(Glu405Lys)	NC_000006.11:g.143094663C>T	(Likely) pathogenic	1 lab	ca11caab9f
16:3707012 DNASE1 TTGCCATTGTTCCCCTGCA>T	16	3707012	3707033	TTGCCATTGTTCCCCTGCA	T	DNASE1	c.453_470del	NM_005223.4	NP_005214.2:p.(Ile152_Ala157del)	NC_000016.9:g.3707016_3707033del	VUS	1 lab	10938de1a1
1:3329323 PRDM16 C>T	1	3329323	3329323	C	T	PRDM16	c.2562C>T	NM_022114.3	NP_071397.3:p.(His854=)	NC_000001.10:g.3329323C>T	(Likely) benign	1 lab	ca19a2633c
18:44121818 LOXHD1 C>G	18	44121818	44121818	C	G	LOXHD1	c.3834G>C	NM_144612.6	NP_653213.6:p.(Trp1278Cys)	NC_000018.9:g.44121818C>G	VUS	1 lab	ca1a4b61fc
3:121994675 CASR G>A	3	121994675	121994675	G	A	CASR	c.1394G>A	NM_000388.3	NP_000379.2:p.(Arg465Gln)	NC_000003.11:g.121994675G>A	(Likely) pathogenic	1 lab	ca1a8252f1
12:13720043 GRIN2B G>A	12	13720043	13720043	G	A	GRIN2B				NC_000012.11:g.13720043G>A	(Likely) benign	1 lab	ca1dfe360b
15:31342744 TRPM1 C>T	15	31342744	31342744	C	T	TRPM1	c.1239G>A	NM_002420.5	NP_002411.3:p.(Thr413=)	NC_000015.9:g.31342744C>T	(Likely) benign	1 lab	ca1e172442
14:23885412 MYH7 T>C	14	23885412	23885412	T	C	MYH7	c.4754A>G	NM_000257.3	NP_000248.2:p.(Gln1585Arg)	NC_000014.8:g.23885412T>C	VUS	1 lab	ca1e8146c3
5:1258755 TERT A>C	5	1258755	1258755	A	C	TERT	c.2990T>G	NM_198253.2	NP_937983.2:p.(Val997Gly)	NC_000005.9:g.1258755A>C	VUS	1 lab	ca1f186ffd
14:64586335 SYNE2 A>G	14	64586335	64586335	A	G	SYNE2	c.13023+8A>G	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64586335A>G	VUS	1 lab	ca79ab1dc4
17:8139463 CTC1 G>A	17	8139463	8139463	G	A	CTC1	c.990C>T	NM_025099.5	NP_079375.3:p.(Asp330=)	NC_000017.10:g.8139463G>A	(Likely) benign	1 lab	ca22b42a5d
19:39055599 RYR1 G>A	19	39055599	39055599	G	A	RYR1	c.12625G>A	NM_000540.3	NP_000531.2:p.(Val4209Met)	NC_000019.9:g.39055599G>A	VUS	1 lab	ca23f62947
7:91714980 AKAP9 C>G	7	91714980	91714980	C	G	AKAP9	c.9004C>G	NM_005751.4	NP_005742.4:p.(Gln3002Glu)	NC_000007.13:g.91714980C>G	VUS	1 lab	13e3763261
1:237619955 RYR2 C>T	1	237619955	237619955	C	T	RYR2	c.1532C>T	NM_001035.2	NP_001026.2:p.(Ala511Val)	NC_000001.10:g.237619955C>T	VUS	1 lab	ca2b0e2c33
20:44596545 ZNF335 G>A	20	44596545	44596545	G	A	ZNF335	c.642C>T	NM_022095.3	NP_071378.1:p.(Ser214=)	NC_000020.10:g.44596545G>A	(Likely) benign	1 lab	ca2e28534f
13:32889777 BRCA2 C>T	13	32889777	32889777	C	T	BRCA2	c.-67C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889777C>T	(Likely) benign	1 lab	ca2efa22ac
1:215847739 USH2A T>C	1	215847739	215847739	T	C	USH2A	c.13514A>G	NM_206933.2	NP_996816.2:p.(Tyr4505Cys)	NC_000001.10:g.215847739T>C	VUS	1 lab	ca31bf8161
2:189875497 COL3A1 A>G	2	189875497	189875497	A	G	COL3A1	c.4135A>G	NM_000090.4	NP_000081.2:p.(Met1379Val)	NC_000002.11:g.189875497A>G	VUS	1 lab	ca36979de1
16:2130297 TSC2 G>A	16	2130297	2130297	G	A	TSC2	c.3529G>A	NM_000548.5	NP_000539.2:p.(Val1177Met)	NC_000016.9:g.2130297G>A	VUS	1 lab	1094bbfacb
10:72192733 NODAL G>T	10	72192733	72192733	G	T	NODAL	c.1003C>A	NM_018055.5	NP_060525.3:p.(His335Asn)	NC_000010.10:g.72192733G>T	VUS	1 lab	ca399dd554
11:103058148 DYNC2H1 C>T	11	103058148	103058148	C	T	DYNC2H1	c.6973C>T	NM_001080463.1	NP_001073932.1:p.(Arg2325Ter)	NC_000011.9:g.103058148C>T	(Likely) pathogenic	1 lab	ca3a0aa935
8:55539855 RP1 T>C	8	55539855	55539855	T	C	RP1	c.3413T>C	NM_006269.2	NP_006260.1:p.(Leu1138Pro)	NC_000008.10:g.55539855T>C	VUS	1 lab	ca47a0102d
5:134364621 PITX1 C>A	5	134364621	134364621	C	A	PITX1	c.793G>T	NM_002653.5	NP_002644.4:p.(Gly265Cys)	NC_000005.9:g.134364621C>A	(Likely) pathogenic	1 lab	ca4822ff3f
19:6694650 C3 A>G	19	6694650	6694650	A	G	C3	c.2951-5T>C	NM_000064.4	NP_000055.2:p.?	NC_000019.9:g.6694650A>G	(Likely) benign	1 lab	1095e5c653
12:110240814 TRPV4 G>A	12	110240814	110240814	G	A	TRPV4	c.694C>T	NM_021625.4	NP_067638.3:p.(Arg232Cys)	NC_000012.11:g.110240814G>A	(Likely) pathogenic	1 lab	ca49f629b1
4:43032469 GRXCR1 G>A	4	43032469	43032469	G	A	GRXCR1	c.785G>A	NM_001080476.3	NP_001073945.1:p.(Arg262Gln)	NC_000004.11:g.43032469G>A	VUS	1 lab	1096bdd1a8
1:94655477 ARHGAP29 C>T	1	94655477	94655477	C	T	ARHGAP29	c.1439+5G>A	NM_004815.3	NP_004806.3:p.?	NC_000001.10:g.94655477C>T	(Likely) pathogenic	1 lab	ca4ccda4fd
10:69926289 MYPN C>T	10	69926289	69926289	C	T	MYPN	c.1839C>T	NM_032578.3	NP_115967.2:p.(Ser613=)	NC_000010.10:g.69926289C>T	(Likely) benign	1 lab	ca511a9d29
11:108186664 ATM G>A	11	108186664	108186664	G	A	ATM	c.6095+26G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108186664G>A	(Likely) benign	1 lab	ca56d90bb2
2:167328840 SCN7A C>T	2	167328840	167328840	C	T	SCN7A	c.559G>A	NM_002976.4	NP_002967.2:p.(Val187Ile)	NC_000002.11:g.167328840C>T	VUS	1 lab	ca587af5ea
9:75315438 TMC1 G>A	9	75315438	75315438	G	A	TMC1	c.241G>A	NM_138691.2	NP_619636.2:p.(Glu81Lys)	NC_000009.11:g.75315438G>A	(Likely) benign	1 lab	ca5aeeab42
1:156106725 LMNA GC>AA	1	156106725	156106726	GC	AA	LMNA	c.1394_1395delinsAA	NM_170707.3	NP_733821.1:p.(Gly465Glu)	NC_000001.10:g.156106725_156106726delinsAA	VUS	1 lab	ca5c75be4b
1:228565357 OBSCN T>G	1	228565357	228565357	T	G	OBSCN	c.26318T>G	NM_001271223.2	NP_001258152.2:p.(Leu8773Arg)	NC_000001.10:g.228565357T>G	(Likely) benign	1 lab	ca5d9a44f5
1:169512039 F5 T>C	1	169512039	169512039	T	C	F5	c.2289A>G	NM_000130.4	NP_000121.2:p.(Glu763=)	NC_000001.10:g.169512039T>C	(Likely) benign	1 lab	ca626b4ead
3:49570882 DAG1 T>C	3	49570882	49570882	T	C	DAG1	c.*250T>C	NM_001165928.3	NP_001159400.2:p.?	NC_000003.11:g.49570882T>C	(Likely) benign	1 lab	10990605fe
11:2606519 KCNQ1 G>A	11	2606519	2606519	G	A	KCNQ1	c.1110G>A	NM_000218.2	NP_000209.2:p.(Ala370=)	NC_000011.9:g.2606519G>A	(Likely) benign	1 lab	ca68d50f54
10:102749084 TWNK C>G	10	102749084	102749084	C	G	TWNK	c.1117C>G	NM_021830.4	NP_068602.2:p.(Leu373Val)	NC_000010.10:g.102749084C>G	VUS	1 lab	ca69eed61e
1:151377936 POGZ A>G	1	151377936	151377936	A	G	POGZ	c.3575T>C	NM_015100.4	NP_055915.2:p.(Leu1192Pro)	NC_000001.10:g.151377936A>G	(Likely) pathogenic	1 lab	ca6b04ff4a
5:112128144 APC G>A	5	112128144	112128144	G	A	APC	c.647G>A	NM_000038.6	NP_000029.2:p.(Arg216Gln)	NC_000005.9:g.112128144G>A	(Likely) benign	1 lab	ca6f8f8ab1
7:128497192 FLNC G>A	7	128497192	128497192	G	A	FLNC	c.7582G>A	NM_001458.4	NP_001449.3:p.(Val2528Met)	NC_000007.13:g.128497192G>A	VUS	1 lab	ca72838fa0
3:189612047 TP63 G>T	3	189612047	189612047	G	T	TP63	c.1799G>T	NM_003722.4	NP_003713.3:p.(Gly600Val)	NC_000003.11:g.189612047G>T	(Likely) pathogenic	1 lab	ca770e2e37
3:133698412 SLCO2A1 G>C	3	133698412	133698412	G	C	SLCO2A1	c.147C>G	NM_005630.3	NP_005621.2:p.(Ser49Arg)	NC_000003.11:g.133698412G>C	(Likely) pathogenic	1 lab	ca7e9de697
11:68207386 LRP5 T>G	11	68207386	68207386	T	G	LRP5	c.4488+2T>G	NM_002335.2	NP_002326.2:p.?	NC_000011.9:g.68207386T>G	(Likely) pathogenic	1 lab	ca8149b472
15:100516346 ADAMTS17 A>C	15	100516346	100516346	A	C	ADAMTS17	c.3031T>G	NM_139057.4	NP_620688.2:p.(Cys1011Gly)	NC_000015.9:g.100516346A>C	VUS	1 lab	ca820c0b32
12:133197633 P2RX2 T>C	12	133197633	133197633	T	C	P2RX2	c.821T>C	NM_170683.3	NP_733783.1:p.(Leu274Pro)	NC_000012.11:g.133197633T>C	(Likely) benign	1 lab	ca8327049a
2:112785971 MERTK C>T	2	112785971	112785971	C	T	MERTK	c.2530C>T	NM_006343.2	NP_006334.2:p.(Arg844Cys)	NC_000002.11:g.112785971C>T	(Likely) pathogenic	1 lab	ca86d59135
16:3293449 MEFV T>C	16	3293449	3293449	T	C	MEFV	c.2038A>G	NM_000243.2	NP_000234.1:p.(Met680Val)	NC_000016.9:g.3293449T>C	(Likely) pathogenic	1 lab	13e93bd724
13:32911250 BRCA2 C>T	13	32911250	32911250	C	T	BRCA2	c.2758C>T	NM_000059.4	NP_000050.3:p.(Pro920Ser)	NC_000013.10:g.32911250C>T	(Likely) benign	1 lab	ca88bb1076
3:169482331 TERC C>T	3	169482331	169482331	C	T	TERC				NC_000003.11:g.169482331C>T	(Likely) benign	1 lab	ca8a35c63b
7:107303880 SLC26A4 G>A	7	107303880	107303880	G	A	SLC26A4	c.304G>A	NM_000441.1	NP_000432.1:p.(Gly102Arg)	NC_000007.13:g.107303880G>A	(Likely) pathogenic	1 lab	ca8ad477e3
8:143993993 CYP11B2 G>A	8	143993993	143993993	G	A	CYP11B2	c.1351C>T	NM_000498.3	NP_000489.3:p.(Leu451Phe)	NC_000008.10:g.143993993G>A	(Likely) pathogenic	1 lab	ca8d2d5c5f
19:7546972 MISSING C>T	19	7546972	7546972	C	T	MISSING				NC_000019.9:g.7546972C>T	VUS	1 lab	cd0a0bcf3a
8:38110309 DDHD2 C>T	8	38110309	38110309	C	T	DDHD2	c.1687C>T	NM_015214.3	NP_056029.2:p.(Pro563Ser)	NC_000008.10:g.38110309C>T	VUS	1 lab	109e28d6ec
2:227974113 COL4A4 A>G	2	227974113	227974113	A	G	COL4A4	c.595-111T>C	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227974113A>G	(Likely) benign	1 lab	ca92a5f96f
11:72018227 CLPB A>G	11	72018227	72018227	A	G	CLPB	c.1077+16T>C	NM_001258394.2	NP_001245323.1:p.?	NC_000011.9:g.72018227A>G	(Likely) benign	1 lab	13eb1129dc
4:73979565 ANKRD17 CCTGT>C	4	73979565	73979571	CCTGT	C	ANKRD17	c.4341_4344del	NM_032217.4	NP_115593.3:p.(Gln1448LeufsTer12)	NC_000004.11:g.73979568_73979571del	VUS	1 lab	ca99f0dc92
6:43488354 POLR1C C>T	6	43488354	43488354	C	T	POLR1C				NC_000006.11:g.43488354C>T	(Likely) benign	1 lab	ca9c2a6ddf
8:15519677 TUSC3 A>T	8	15519677	15519677	A	T	TUSC3	c.580A>T	NM_006765.4	NP_006756.2:p.(Arg194Ter)	NC_000008.10:g.15519677A>T	(Likely) pathogenic	1 lab	13ec0c1bde
7:116166602 CAV1 C>G	7	116166602	116166602	C	G	CAV1	c.54C>G	NM_001753.4	NP_001744.2:p.(Ile18Met)	NC_000007.13:g.116166602C>G	(Likely) benign	1 lab	caa1072fe8
9:5772921 RIC1 G>A	9	5772921	5772921	G	A	RIC1	c.3824G>A	NM_020829.3	NP_065880.2:p.(Gly1275Glu)	NC_000009.11:g.5772921G>A	VUS	1 lab	caa15de554
19:16940232 SIN3B A>C	19	16940232	16940232	A	C	SIN3B	c.1A>C	NM_015260.3	NP_056075.1:p.(Met1?)	NC_000019.9:g.16940232A>C	VUS	1 lab	caa15fa950
16:68835746 CDH1 A>G	16	68835746	68835746	A	G	CDH1	c.337A>G	NM_004360.3	NP_004351.1:p.(Lys113Glu)	NC_000016.9:g.68835746A>G	(Likely) benign	1 lab	caa3819653
17:6337404 AIPL1 G>A	17	6337404	6337404	G	A	AIPL1	c.111C>T	NM_014336.5	NP_055151.3:p.(Phe37=)	NC_000017.10:g.6337404G>A	(Likely) benign	1 lab	caa3f16291
14:23885174 MYH7 G>A	14	23885174	23885174	G	A	MYH7	c.4953+39C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23885174G>A	(Likely) benign	1 lab	caa61d9743
X:153418514 OPN1LW G>A	X	153418514	153418514	G	A	OPN1LW	c.511G>A	NM_020061.6	NP_064445.2:p.(Val171Met)	NC_000023.10:g.153418514G>A	(Likely) pathogenic	1 lab	caa6b91ba8
X:100653024 GLA TTATCATAGC>T	X	100653024	100653035	TTATCATAGC	T	GLA	c.1054_1062del	NM_000169.2	NP_000160.1:p.(Ala352_Ile354del)	NC_000023.10:g.100653027_100653035del	(Likely) pathogenic	1 lab	caa8a4aa97
2:166904254 SCN1A A>T	2	166904254	166904254	A	T	SCN1A	c.1053T>A	NM_001165963.1	NP_001159435.1:p.(Cys351Ter)	NC_000002.11:g.166904254A>T	(Likely) pathogenic	1 lab	caa8f33942
2:166892994 SCN1A T>C	2	166892994	166892994	T	C	SCN1A	c.2993A>G	NM_001165963.1	NP_001159435.1:p.(Asp998Gly)	NC_000002.11:g.166892994T>C	(Likely) pathogenic	1 lab	caab755f21
X:85134069 CHM C>A	X	85134069	85134069	C	A	CHM	c.1511-1G>T	NM_000390.3	NP_000381.1:p.?	NC_000023.10:g.85134069C>A	(Likely) pathogenic	1 lab	caacbf7ee5
X:129149081 BCORL1 A>G	X	129149081	129149081	A	G	BCORL1	c.2333A>G	NM_001184772.2	NP_001171701.1:p.(Gln778Arg)	NC_000023.10:g.129149081A>G	VUS	1 lab	caaec5505c
2:179510633 TTN G>A	2	179510633	179510633	G	A	TTN	c.40408+14C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179510633G>A	(Likely) benign	1 lab	13ec96b4d8
17:59770784 BRIP1 A>T	17	59770784	59770784	A	T	BRIP1	c.2575+7T>A	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59770784A>T	(Likely) benign	1 lab	cab2a089f5
12:13761664 GRIN2B G>C	12	13761664	13761664	G	C	GRIN2B	c.1883C>G	NM_000834.3	NP_000825.2:p.(Ser628Cys)	NC_000012.11:g.13761664G>C	VUS	1 lab	cab34274be
6:26156632 H1-4 C>T	6	26156632	26156632	C	T	H1-4	c.14C>T	NM_005321.3	NP_005312.1:p.(Ala5Val)	NC_000006.11:g.26156632C>T	(Likely) benign	1 lab	109ebf3554
11:101375549 TRPC6 T>C	11	101375549	101375549	T	C	TRPC6	c.171-20A>G	NM_004621.5	NP_004612.2:p.?	NC_000011.9:g.101375549T>C	(Likely) benign	1 lab	cab7f98d1c
9:139400327 NOTCH1 C>T	9	139400327	139400327	C	T	NOTCH1	c.4021G>A	NM_017617.3	NP_060087.3:p.(Glu1341Lys)	NC_000009.11:g.139400327C>T	(Likely) benign	1 lab	cabae36df3
6:112510409 LAMA4 T>C	6	112510409	112510409	T	C	LAMA4	c.719-2A>G	NM_001105206.3	NP_001098676.2:p.?	NC_000006.11:g.112510409T>C	(Likely) pathogenic	1 lab	cabc609585
17:56348230 MPO T>G	17	56348230	56348230	T	G	MPO	c.2031-6A>C	NM_000250.1	NP_000241.1:p.?	NC_000017.10:g.56348230T>G	(Likely) benign	1 lab	cabc8f713d
10:121411045 BAG3 C>CAGT	10	121411045	121411046	C	CAGT	BAG3	c.-143_-142insAGT	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121411045_121411046insAGT	(Likely) benign	1 lab	cabe9f4c92
1:39895624 MACF1 C>T	1	39895624	39895624	C	T	MACF1	c.17014C>T	NM_001394062.1	NP_001380991.1:p.(Gln5672Ter)	NC_000001.10:g.39895624C>T	(Likely) pathogenic	1 lab	cac22a68d0
7:94049721 COL1A2 G>T	7	94049721	94049721	G	T	COL1A2	c.2152G>T	NM_000089.3	NP_000080.2:p.(Gly718Cys)	NC_000007.13:g.94049721G>T	(Likely) pathogenic	1 lab	cac8f46885
11:108151842 ATM G>C	11	108151842	108151842	G	C	ATM	c.3523G>C	NM_000051.4	NP_000042.3:p.(Ala1175Pro)	NC_000011.9:g.108151842G>C	VUS	1 lab	cace939a19
18:52896224 TCF4 C>G	18	52896224	52896224	C	G	TCF4	c.1733G>C	NM_001083962.1	NP_001077431.1:p.(Arg578Pro)	NC_000018.9:g.52896224C>G	(Likely) pathogenic	1 lab	cacfc239c2
X:53564617 HUWE1 G>A	X	53564617	53564617	G	A	HUWE1	c.12037C>T	NM_031407.7	NP_113584.3:p.(Arg4013Trp)	NC_000023.10:g.53564617G>A	(Likely) pathogenic	1 lab	10a140aa4b
9:98244415 PTCH1 C>A	9	98244415	98244415	C	A	PTCH1	c.654+1G>T	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98244415C>A	(Likely) pathogenic	1 lab	cacff50978
10:97369966 ALDH18A1 G>A	10	97369966	97369966	G	A	ALDH18A1	c.2194C>T	NM_002860.4	NP_002851.2:p.(Arg732Cys)	NC_000010.10:g.97369966G>A	VUS	1 lab	cad066f403
13:111119417 COL4A2 G>T	13	111119417	111119417	G	T	COL4A2	c.2069G>T	NM_001846.4	NP_001837.2:p.(Gly690Val)	NC_000013.10:g.111119417G>T	(Likely) pathogenic	1 lab	cad8b8b93b
16:23619288 PALB2 C>T	16	23619288	23619288	C	T	PALB2	c.3247G>A	NM_024675.4	NP_078951.2:p.(Glu1083Lys)	NC_000016.9:g.23619288C>T	VUS	1 lab	cad9518266
17:16843692 TNFRSF13B G>T	17	16843692	16843692	G	T	TNFRSF13B	c.579C>A	NM_012452.3	NP_036584.1:p.(Cys193Ter)	NC_000017.10:g.16843692G>T	(Likely) pathogenic	1 lab	cada651628
13:100925472 PCCA C>T	13	100925472	100925472	C	T	PCCA	c.937C>T	NM_000282.3	NP_000273.2:p.(Arg313Ter)	NC_000013.10:g.100925472C>T	(Likely) pathogenic	1 lab	cadb854ae8
2:207173342 ZDBF2 C>T	2	207173342	207173342	C	T	ZDBF2	c.4090C>T	NM_020923.3	NP_065974.1:p.(Pro1364Ser)	NC_000002.11:g.207173342C>T	VUS	1 lab	10a469a6a2
2:170135885 LRP2 A>G	2	170135885	170135885	A	G	LRP2	c.1562T>C	NM_004525.3	NP_004516.2:p.(Val521Ala)	NC_000002.11:g.170135885A>G	VUS	1 lab	cadde8044d
1:201009083 CACNA1S AGTAGCTCT>A	1	201009083	201009093	AGTAGCTCT	A	CACNA1S	c.5490_5497del	NM_000069.3	NP_000060.2:p.(Leu1832ArgfsTer67)	NC_000001.10:g.201009086_201009093del	(Likely) benign	1 lab	13ee27c00f
19:33878798 PEPD C>T	19	33878798	33878798	C	T	PEPD	c.1342G>A	NM_000285.4	NP_000276.2:p.(Gly448Arg)	NC_000019.9:g.33878798C>T	(Likely) pathogenic	1 lab	cadfdfc067
12:12284952 LRP6 G>A	12	12284952	12284952	G	A	LRP6	c.3773C>T	NM_002336.2	NP_002327.2:p.(Thr1258Met)	NC_000012.11:g.12284952G>A	VUS	1 lab	caea73955b
17:33446550 RAD51D C>A	17	33446550	33446550	C	A	RAD51D	c.82+1G>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33446550C>A	(Likely) pathogenic	1 lab	caef09d6e9
5:90059078 ADGRV1 TTG>T	5	90059078	90059081	TTG	T	ADGRV1	c.12121-42_12121-41del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90059080_90059081del	(Likely) benign	1 lab	13f0bba1a4
11:61723244 BEST1 C>G	11	61723244	61723244	C	G	BEST1	c.302C>G	NM_004183.3	NP_004174.1:p.(Pro101Arg)	NC_000011.9:g.61723244C>G	VUS	1 lab	caf5968515
12:53448235 TNS2 G>A	12	53448235	53448235	G	A	TNS2	c.552+10G>A	NM_015319.2	NP_056134.2:p.?	NC_000012.11:g.53448235G>A	(Likely) benign	1 lab	13f39ab56b
6:42933047 PEX6 A>G	6	42933047	42933047	A	G	PEX6	c.2531T>C	NM_000287.4	NP_000278.3:p.(Val844Ala)	NC_000006.11:g.42933047A>G	(Likely) benign	1 lab	caf782a8b7
12:32945486 PKP2 G>T	12	32945486	32945486	G	T	PKP2	c.2578-60C>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945486G>T	(Likely) benign	1 lab	caf78e268a
3:38651478 SCN5A C>T	3	38651478	38651478	C	T	SCN5A	c.704-23G>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38651478C>T	(Likely) benign	1 lab	caf9e0c390
19:6026182 MISSING T>C	19	6026182	6026182	T	C	MISSING				NC_000019.9:g.6026182T>C	VUS	1 lab	cafae2b5b5
1:113471855 SLC16A1 C>G	1	113471855	113471855	C	G	SLC16A1	c.76G>C	NM_003051.4	NP_003042.3:p.(Ala26Pro)	NC_000001.10:g.113471855C>G	VUS	1 lab	cafd801df7
6:42672308 PRPH2 C>T	6	42672308	42672308	C	T	PRPH2	c.623G>A	NM_000322.5	NP_000313.2:p.(Gly208Asp)	NC_000006.11:g.42672308C>T	(Likely) pathogenic	1 lab	cafe23bf04
2:167056257 SCN9A C>A	2	167056257	167056257	C	A	SCN9A	c.4859G>T	NM_002977.3	NP_002968.1:p.(Arg1620Leu)	NC_000002.11:g.167056257C>A	(Likely) pathogenic	1 lab	caff8ec564
22:28193718 MN1 GC>G	22	28193718	28193723	GC	G	MN1	c.2813del	NM_002430.3	NP_002421.3:p.(Gly938AlafsTer16)	NC_000022.10:g.28193723del	(Likely) pathogenic	1 lab	cb00049543
5:112176329 APC C>T	5	112176329	112176329	C	T	APC	c.5038C>T	NM_000038.5	NP_000029.2:p.(Gln1680Ter)	NC_000005.9:g.112176329C>T	(Likely) pathogenic	1 lab	cb034f01b7
4:113353561 ALPK1 C>T	4	113353561	113353561	C	T	ALPK1	c.2858C>T	NM_025144.4	NP_079420.3:p.(Ser953Phe)	NC_000004.11:g.113353561C>T	VUS	1 lab	10a8fed1da
1:147380227 GJA8 C>G	1	147380227	147380227	C	G	GJA8	c.145C>G	NM_005267.4	NP_005258.2:p.(Gln49Glu)	NC_000001.10:g.147380227C>G	VUS	1 lab	cb05444db1
7:117230480 CFTR G>A	7	117230480	117230480	G	A	CFTR	c.1753G>A	NM_000492.3	NP_000483.3:p.(Glu585Lys)	NC_000007.13:g.117230480G>A	VUS	1 lab	cb0c8aad27
11:108098273 ATM A>G	11	108098273	108098273	A	G	ATM	c.-30-49A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108098273A>G	(Likely) benign	1 lab	cb0d04d724
X:41202509 DDX3X T>G	X	41202509	41202509	T	G	DDX3X	c.584T>G	NM_001193416.2	NP_001180345.1:p.(Ile195Ser)	NC_000023.10:g.41202509T>G	(Likely) pathogenic	1 lab	cb0e45718d
16:1505729 CLCN7 T>G	16	1505729	1505729	T	G	CLCN7	c.981+3A>C	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1505729T>G	(Likely) pathogenic	1 lab	cb0ef4cf5e
6:129204484 LAMA2 C>T	6	129204484	129204484	C	T	LAMA2	c.94C>T	NM_000426.3	NP_000417.2:p.(Gln32Ter)	NC_000006.11:g.129204484C>T	(Likely) pathogenic	1 lab	cb0f2dcaa4
17:41246334 BRCA1 G>C	17	41246334	41246334	G	C	BRCA1	c.1214C>G	NM_007294.3	NP_009225.1:p.(Ser405Ter)	NC_000017.10:g.41246334G>C	(Likely) pathogenic	1 lab	cb1057b621
11:76917165 MYO7A C>T	11	76917165	76917165	C	T	MYO7A	c.5660C>T	NM_000260.3	NP_000251.3:p.(Pro1887Leu)	NC_000011.9:g.76917165C>T	(Likely) pathogenic	1 lab	cb1251e817
15:63340856 TPM1 GC>TT	15	63340856	63340857	GC	TT	TPM1	c.82_83delinsTT	NM_001018008.1	NP_001018008.1:p.(Ala28Leu)	NC_000015.9:g.63340856_63340857delinsTT	(Likely) benign	1 lab	cb1473b727
12:52910464 KRT5 C>T	12	52910464	52910464	C	T	KRT5	c.1396G>A	NM_000424.4	NP_000415.2:p.(Glu466Lys)	NC_000012.11:g.52910464C>T	(Likely) pathogenic	1 lab	10adf3042a
13:23928912 SACS C>T	13	23928912	23928912	C	T	SACS	c.1839G>A	NM_014363.4	NP_055178.3:p.(Gln613=)	NC_000013.10:g.23928912C>T	(Likely) benign	1 lab	cb19bdc0be
17:42934441 EFTUD2 A>G	17	42934441	42934441	A	G	EFTUD2	c.2045+2T>C	NM_004247.4	NP_004238.3:p.?	NC_000017.10:g.42934441A>G	(Likely) pathogenic	1 lab	cb19dbb839
3:142281117 ATR C>T	3	142281117	142281117	C	T	ATR	c.1127G>A	NM_001184.4	NP_001175.2:p.(Cys376Tyr)	NC_000003.11:g.142281117C>T	VUS	1 lab	10b0018e59
9:35063019 VCP C>A	9	35063019	35063019	C	A	VCP	c.767G>T	NM_007126.5	NP_009057.1:p.(Arg256Leu)	NC_000009.11:g.35063019C>A	VUS	1 lab	cb1b07d25f
8:42036464 PLAT C>G	8	42036464	42036464	C	G	PLAT	c.1481G>C	NM_000930.4	NP_000921.1:p.(Gly494Ala)	NC_000008.10:g.42036464C>G	VUS	1 lab	cb1b67711e
3:37055998 MLH1 C>G	3	37055998	37055998	C	G	MLH1	c.753C>G	NM_000249.3	NP_000240.1:p.(Tyr251Ter)	NC_000003.11:g.37055998C>G	(Likely) pathogenic	1 lab	cb1f79cdb3
17:33445566 RAD51D C>T	17	33445566	33445566	C	T	RAD51D	c.217G>A	NM_002878.4	NP_002869.3:p.(Glu73Lys)	NC_000017.10:g.33445566C>T	VUS	1 lab	cb238e12c2
X:20187515 RPS6KA3 C>T	X	20187515	20187515	C	T	RPS6KA3	c.1443+5G>A	NM_004586.2	NP_004577.1:p.?	NC_000023.10:g.20187515C>T	VUS	1 lab	cb2397967c
17:41245776 BRCA1 A>G	17	41245776	41245776	A	G	BRCA1	c.1772T>C	NM_007294.4	NP_009225.1:p.(Ile591Thr)	NC_000017.10:g.41245776A>G	(Likely) benign	1 lab	cb23f469b9
2:166165924 SCN2A G>A	2	166165924	166165924	G	A	SCN2A	c.668G>A	NM_021007.3	NP_066287.2:p.(Arg223Gln)	NC_000002.11:g.166165924G>A	(Likely) pathogenic	1 lab	cb26164840
1:201338979 TNNT2 G>T	1	201338979	201338979	G	T	TNNT2	c.68-6C>A	NM_000364.3	NP_000355.2:p.?	NC_000001.10:g.201338979G>T	(Likely) benign	1 lab	cb26f5d5c2
17:18907183 MISSING A>T	17	18907183	18907183	A	T	MISSING				NC_000017.10:g.18907183A>T	(Likely) pathogenic	1 lab	cb28257179
1:196946872 CFHR5 G>A	1	196946872	196946872	G	A	CFHR5	c.58+20G>A	NM_030787.4	NP_110414.1:p.?	NC_000001.10:g.196946872G>A	(Likely) benign	1 lab	cb296fdea2
8:23560009 NKX2-6 C>A	8	23560009	23560009	C	A	NKX2-6	c.861G>T	NM_001136271.2	NP_001129743.2:p.(Pro287=)	NC_000008.10:g.23560009C>A	(Likely) benign	1 lab	cb2ba7d15b
1:236924376 ACTN2 C>CG	1	236924376	236924377	C	CG	ACTN2	c.2429_2430insG	NM_001103.3	NP_001094.1:p.(Phe811LeufsTer10)	NC_000001.10:g.236924376_236924377insG	VUS	1 lab	cb2cd49ce0
5:55164678 IL31RA T>A	5	55164678	55164678	T	A	IL31RA	c.157T>A	NM_001242638.2	NP_001229567.1:p.(Cys53Ser)	NC_000005.9:g.55164678T>A	VUS	1 lab	10b10c2456
7:6026915 PMS2 G>A	7	6026915	6026915	G	A	PMS2	c.1481C>T	NM_000535.6	NP_000526.2:p.(Ser494Leu)	NC_000007.13:g.6026915G>A	(Likely) benign	1 lab	cb2d61a0c1
1:45798104 MUTYH A>G	1	45798104	45798104	A	G	MUTYH	c.747T>C	NM_001128425.1	NP_001121897.1:p.(Ile249=)	NC_000001.10:g.45798104A>G	(Likely) benign	1 lab	cb37b2bffc
16:11002927 CIITA A>G	16	11002927	11002927	A	G	CIITA	c.2699A>G	NM_000246.4	NP_000237.2:p.(Gln900Arg)	NC_000016.9:g.11002927A>G	(Likely) benign	1 lab	10b1d637d7
X:77378693 PGK1 T>C	X	77378693	77378693	T	C	PGK1	c.758T>C	NM_000291.3	NP_000282.1:p.(Ile253Thr)	NC_000023.10:g.77378693T>C	VUS	1 lab	cb3c85f834
X:46713149 RP2 G>A	X	46713149	46713149	G	A	RP2	c.341G>A	NM_006915.3	NP_008846.2:p.(Cys114Tyr)	NC_000023.10:g.46713149G>A	VUS	1 lab	cb4185b4f4
5:139494093 PURA G>T	5	139494093	139494093	G	T	PURA	c.327G>T	NM_005859.4	NP_005850.1:p.(Glu109Asp)	NC_000005.9:g.139494093G>T	VUS	1 lab	cb44828c0c
16:3304662 MEFV C>A	16	3304662	3304662	C	A	MEFV	c.406G>T	NM_000243.2	NP_000234.1:p.(Gly136Trp)	NC_000016.9:g.3304662C>A	VUS	1 lab	13f61ffc83
5:138283171 SIL1 C>T	5	138283171	138283171	C	T	SIL1	c.1030-9G>A	NM_022464.5	NP_071909.1:p.?	NC_000005.9:g.138283171C>T	(Likely) pathogenic	1 lab	cb4ed86f18
2:238275435 COL6A3 C>T	2	238275435	238275435	C	T	COL6A3	c.5395G>A	NM_004369.4	NP_004360.2:p.(Val1799Met)	NC_000002.11:g.238275435C>T	VUS	1 lab	10b5282017
5:142661490 NR3C1 A>G	5	142661490	142661490	A	G	NR3C1	c.2298T>C	NM_000176.2	NP_000167.1:p.(Asn766=)	NC_000005.9:g.142661490A>G	(Likely) benign	1 lab	cb4f91ec1d
11:76918322 MYO7A T>C	11	76918322	76918322	T	C	MYO7A	c.5743-12T>C	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76918322T>C	(Likely) benign	1 lab	cb4fa4b7ec
19:38985136 RYR1 G>A	19	38985136	38985136	G	A	RYR1	c.6419G>A	NM_000540.2	NP_000531.2:p.(Arg2140Gln)	NC_000019.9:g.38985136G>A	VUS	1 lab	cb50e05e7f
6:116441459 COL10A1 C>A	6	116441459	116441459	C	A	COL10A1	c.1820G>T	NM_000493.3	NP_000484.2:p.(Gly607Val)	NC_000006.11:g.116441459C>A	VUS	1 lab	cb5368378c
4:55599245 KIT A>G	4	55599245	55599245	A	G	KIT	c.2371A>G	NM_000222.3	NP_000213.1:p.(Arg791Gly)	NC_000004.11:g.55599245A>G	(Likely) pathogenic	1 lab	cb53bb281e
1:41284282 KCNQ4 G>C	1	41284282	41284282	G	C	KCNQ4	c.638G>C	NM_004700.3	NP_004691.2:p.(Arg213Pro)	NC_000001.10:g.41284282G>C	VUS	1 lab	cb5706358b
9:129455875 LMX1B G>GC	9	129455875	129455876	G	GC	LMX1B	c.815dup	NM_002316.3	NP_002307.2:p.(Met274AspfsTer78)	NC_000009.11:g.129455876dup	(Likely) pathogenic	1 lab	cb57795e1a
20:42744399 JPH2 TTG>T	20	42744399	42744401	TTG	T	JPH2	c.1914_1915del	NM_020433.4	NP_065166.2:p.(Lys639AspfsTer2)	NC_000020.10:g.42744400_42744401del	(Likely) benign	1 lab	cb58f92688
1:160188125 DCAF8 G>A	1	160188125	160188125	G	A	DCAF8	c.1666C>T	NM_015726.4	NP_056541.2:p.(Arg556Cys)	NC_000001.10:g.160188125G>A	VUS	1 lab	cb5a8d5421
16:6367009 RBFOX1 G>A	16	6367009	6367009	G	A	RBFOX1	c.17G>A	NM_001308117.1	NP_001295046.1:p.(Arg6Lys)	NC_000016.9:g.6367009G>A	VUS	1 lab	10b6445959
5:112103162 APC T>G	5	112103162	112103162	T	G	APC	c.422+75T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112103162T>G	(Likely) benign	1 lab	cb60dd060b
1:94485137 ABCA4 C>A	1	94485137	94485137	C	A	ABCA4	c.5196+1G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94485137C>A	(Likely) pathogenic	1 lab	cb7c119607
17:29654636 NF1 GAACCAGTTCACCTT>G	17	29654636	29654655	GAACCAGTTCACCTT	G	NF1	c.5331_5344del	NM_000267.3	NP_000258.1:p.(Gln1777HisfsTer16)	NC_000017.10:g.29654642_29654655del	(Likely) pathogenic	1 lab	cb616afe93
X:41333575 NYX T>A	X	41333575	41333575	T	A	NYX	c.869T>A	NM_022567.2	NP_072089.1:p.(Ile290Asn)	NC_000023.10:g.41333575T>A	VUS	1 lab	cb6696db69
1:94510215 ABCA4 G>A	1	94510215	94510215	G	A	ABCA4	c.3004C>T	NM_000350.3	NP_000341.2:p.(Arg1002Trp)	NC_000001.10:g.94510215G>A	(Likely) pathogenic	1 lab	cb675aa277
13:32912957 BRCA2 A>T	13	32912957	32912957	A	T	BRCA2	c.4465A>T	NM_000059.3	NP_000050.2:p.(Lys1489Ter)	NC_000013.10:g.32912957A>T	(Likely) pathogenic	1 lab	cb6796632e
13:32912495 BRCA2 G>T	13	32912495	32912495	G	T	BRCA2	c.4003G>T	NM_000059.3	NP_000050.2:p.(Glu1335Ter)	NC_000013.10:g.32912495G>T	(Likely) pathogenic	1 lab	cb684e7399
1:94463452 ABCA4 C>T	1	94463452	94463452	C	T	ABCA4	c.6694G>A	NM_000350.2	NP_000341.2:p.(Glu2232Lys)	NC_000001.10:g.94463452C>T	VUS	1 lab	cb68f1c160
14:23883404 MYH7 C>T	14	23883404	23883404	C	T	MYH7	c.5560-93G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23883404C>T	(Likely) benign	1 lab	cb69bcbe01
11:2291271 ASCL2 A>C	11	2291271	2291271	A	C	ASCL2	c.292T>G	NM_005170.2	NP_005161.1:p.(Tyr98Asp)	NC_000011.9:g.2291271A>C	VUS	1 lab	cb6a150fa6
19:50909425 POLD1 C>G	19	50909425	50909425	C	G	POLD1	c.1243-14C>G	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50909425C>G	(Likely) benign	1 lab	cb6a2708f9
16:23197545 SCNN1G C>G	16	23197545	23197545	C	G	SCNN1G	c.-44-4C>G	NM_001039.3	NP_001030.2:p.?	NC_000016.9:g.23197545C>G	(Likely) benign	1 lab	cb6b96c248
1:215848925 USH2A A>C	1	215848925	215848925	A	C	USH2A	c.12328T>G	NM_206933.2	NP_996816.2:p.(Tyr4110Asp)	NC_000001.10:g.215848925A>C	(Likely) pathogenic	1 lab	cb6be7e677
22:21348520 LZTR1 A>C	22	21348520	21348520	A	C	LZTR1	c.1577A>C	NM_006767.4	NP_006758.2:p.(Gln526Pro)	NC_000022.10:g.21348520A>C	VUS	1 lab	10b6578b7e
20:42744998 JPH2 C>A	20	42744998	42744998	C	A	JPH2	c.1317G>T	NM_020433.4	NP_065166.2:p.(Leu439=)	NC_000020.10:g.42744998C>A	(Likely) benign	1 lab	cb75c5c53b
1:241672076 FH C>T	1	241672076	241672076	C	T	FH	c.565G>A	NM_000143.3	NP_000134.2:p.(Asp189Asn)	NC_000001.10:g.241672076C>T	(Likely) pathogenic	1 lab	cb7a08bf2a
7:128486399 FLNC A>C	7	128486399	128486399	A	C	FLNC	c.4009A>C	NM_001458.4	NP_001449.3:p.(Lys1337Gln)	NC_000007.13:g.128486399A>C	VUS	1 lab	cb7baa1d9f
6:157431696 ARID1B G>C	6	157431696	157431696	G	C	ARID1B	c.2581+1G>C	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157431696G>C	(Likely) pathogenic	1 lab	cb7d4eaca9
17:30264461 SUZ12 G>A	17	30264461	30264461	G	A	SUZ12	c.196G>A	NM_015355.4	NP_056170.2:p.(Ala66Thr)	NC_000017.10:g.30264461G>A	(Likely) benign	1 lab	10b8ee44fd
19:33349351 SLC7A9 C>T	19	33349351	33349351	C	T	SLC7A9	c.972G>A	NM_014270.4	NP_055085.1:p.(Ala324=)	NC_000019.9:g.33349351C>T	(Likely) benign	1 lab	cb827f87a4
X:153587762 FLNA C>G	X	153587762	153587762	C	G	FLNA	c.4155G>C	NM_001456.3	NP_001447.2:p.(Thr1385=)	NC_000023.10:g.153587762C>G	(Likely) benign	1 lab	cb82ce084a
13:111293929 CARS2 C>T	13	111293929	111293929	C	T	CARS2				NC_000013.10:g.111293929C>T	VUS	1 lab	cb83b7b88a
X:48762555 SLC35A2 G>C	X	48762555	48762555	G	C	SLC35A2	c.631C>G	NM_005660.2	NP_005651.1:p.(Leu211Val)	NC_000023.10:g.48762555G>C	VUS	1 lab	cb885e639b
11:64522792 PYGM G>A	11	64522792	64522792	G	A	PYGM	c.808C>T	NM_005609.2	NP_005600.1:p.(Arg270Ter)	NC_000011.9:g.64522792G>A	(Likely) pathogenic	1 lab	cb895e37e3
19:36223114 KMT2B A>G	19	36223114	36223114	A	G	KMT2B	c.5666-2A>G	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36223114A>G	VUS	1 lab	cb8fca40a8
7:47976542 PKD1L1 G>A	7	47976542	47976542	G	A	PKD1L1	c.299C>T	NM_138295.4	NP_612152.1:p.(Thr100Ile)	NC_000007.13:g.47976542G>A	(Likely) benign	1 lab	cb95177ba9
14:61115385 SIX1 G>A	14	61115385	61115385	G	A	SIX1				NC_000014.8:g.61115385G>A	(Likely) pathogenic	1 lab	cdd07e44f0
7:131195094 PODXL GAAAAA>G	7	131195094	131195121	GAAAAA	G	PODXL	c.707-9_707-5del	NM_001018111.3	NP_001018121.1:p.?	NC_000007.13:g.131195117_131195121del	(Likely) benign	1 lab	13f7d8b027
14:68189418 RDH12 C>T	14	68189418	68189418	C	T	RDH12	c.59C>T	NM_152443.2	NP_689656.2:p.(Pro20Leu)	NC_000014.8:g.68189418C>T	VUS	1 lab	cb96e5d57c
20:10633195 JAG1 C>T	20	10633195	10633195	C	T	JAG1	c.807G>A	NM_000214.2	NP_000205.1:p.(Pro269=)	NC_000020.10:g.10633195C>T	VUS	1 lab	cb9b18bc2b
4:110682686 CFI A>G	4	110682686	110682686	A	G	CFI				NC_000004.11:g.110682686A>G	(Likely) benign	1 lab	cb9bc43179
3:14172311 TMEM43 T>G	3	14172311	14172311	T	G	TMEM43	c.163-11T>G	NM_024334.2	NP_077310.1:p.?	NC_000003.11:g.14172311T>G	(Likely) benign	1 lab	cb9be37edf
4:96761980 PDHA2 A>G	4	96761980	96761980	A	G	PDHA2	c.679A>G	NM_005390.5	NP_005381.1:p.(Met227Val)	NC_000004.11:g.96761980A>G	(Likely) pathogenic	1 lab	cb9dabbb36
1:152287078 FLG G>A	1	152287078	152287078	G	A	FLG	c.284C>T	NM_002016.1	NP_002007.1:p.(Pro95Leu)	NC_000001.10:g.152287078G>A	(Likely) benign	1 lab	cb9f50cc49
17:76568828 DNAH17 G>A	17	76568828	76568828	G	A	DNAH17	c.494C>T	NM_173628.4	NP_775899.3:p.(Pro165Leu)	NC_000017.10:g.76568828G>A	VUS	1 lab	cb9fb06f14
7:128480098 FLNC G>A	7	128480098	128480098	G	A	FLNC	c.1433G>A	NM_001458.5	NP_001449.3:p.(Arg478His)	NC_000007.13:g.128480098G>A	VUS	1 lab	cba0f24fbb
9:3263011 RFX3 C>T	9	3263011	3263011	C	T	RFX3	c.1529G>A	NM_001282116.2	NP_001269045.1:p.(Arg510His)	NC_000009.11:g.3263011C>T	VUS	1 lab	cba115cc1d
2:121685108 GLI2 C>T	2	121685108	121685108	C	T	GLI2	c.254+66C>T	NM_005270.4	NP_005261.2:p.?	NC_000002.11:g.121685108C>T	(Likely) benign	1 lab	cba1c0b41e
11:108225593 ATM A>G	11	108225593	108225593	A	G	ATM	c.8842A>G	NM_000051.4	NP_000042.3:p.(Ile2948Val)	NC_000011.9:g.108225593A>G	VUS	1 lab	cba35120a1
6:76570813 MYO6 G>T	6	76570813	76570813	G	T	MYO6	c.1546+1G>T	NM_004999.3	NP_004990.3:p.?	NC_000006.11:g.76570813G>T	(Likely) pathogenic	1 lab	cba75fc927
15:68500617 CLN6 AAGG>A	15	68500617	68500625	AAGG	A	CLN6	c.794_796del	NM_017882.2	NP_060352.1:p.(Ser265del)	NC_000015.9:g.68500623_68500625del	VUS	1 lab	cba80eb49a
1:156104614 LMNA C>T	1	156104614	156104614	C	T	LMNA	c.658C>T	NM_170707.4	NP_733821.1:p.(Arg220Cys)	NC_000001.10:g.156104614C>T	(Likely) pathogenic	1 lab	cbaa0e9112
4:129920909 SCLT1 T>C	4	129920909	129920909	T	C	SCLT1	c.467A>G	NM_144643.4	NP_653244.2:p.(Gln156Arg)	NC_000004.11:g.129920909T>C	VUS	1 lab	cbae7cb3cd
2:157186161 NR4A2 G>A	2	157186161	157186161	G	A	NR4A2	c.538C>T	NM_006186.4	NP_006177.1:p.(Gln180Ter)	NC_000002.11:g.157186161G>A	(Likely) pathogenic	1 lab	cbb4023f93
17:7803953 CHD3 G>A	17	7803953	7803953	G	A	CHD3	c.3059G>A	NM_001005271.2	NP_001005271.2:p.(Gly1020Glu)	NC_000017.10:g.7803953G>A	VUS	1 lab	cbb4784f62
1:16458252 EPHA2 A>C	1	16458252	16458252	A	C	EPHA2	c.2439T>G	NM_004431.4	NP_004422.2:p.(Tyr813Ter)	NC_000001.10:g.16458252A>C	(Likely) pathogenic	1 lab	cbb5cb5cbb
22:29083955 CHEK2 C>T	22	29083955	29083955	C	T	CHEK2	c.1562G>A	NM_007194.4	NP_009125.1:p.(Arg521Gln)	NC_000022.10:g.29083955C>T	VUS	1 lab	13ff171299
X:8536380 ANOS1 T>C	X	8536380	8536380	T	C	ANOS1	c.1100A>G	NM_000216.4	NP_000207.2:p.(Asp367Gly)	NC_000023.10:g.8536380T>C	VUS	1 lab	cbbf3891df
10:73569782 CDH23 C>G	10	73569782	73569782	C	G	CDH23	c.8928C>G	NM_022124.6	NP_071407.4:p.(Ile2976Met)	NC_000010.10:g.73569782C>G	VUS	1 lab	10be2a5358
16:81925130 PLCG2 C>T	16	81925130	81925130	C	T	PLCG2	c.921C>T	NM_002661.3	NP_002652.2:p.(Asp307=)	NC_000016.9:g.81925130C>T	(Likely) benign	1 lab	1401c279ec
13:32954204 BRCA2 T>C	13	32954204	32954204	T	C	BRCA2	c.9178T>C	NM_000059.3	NP_000050.2:p.(Phe3060Leu)	NC_000013.10:g.32954204T>C	(Likely) benign	1 lab	cbc288dd15
10:75878219 VCL G>C	10	75878219	75878219	G	C	VCL	c.*292G>C	NM_014000.2	NP_054706.1:p.?	NC_000010.10:g.75878219G>C	(Likely) benign	1 lab	cbc8baf83e
7:42004890 GLI3 G>A	7	42004890	42004890	G	A	GLI3	c.3781C>T	NM_000168.6	NP_000159.3:p.(Gln1261Ter)	NC_000007.13:g.42004890G>A	(Likely) pathogenic	1 lab	cbca821c36
1:237755074 RYR2 C>A	1	237755074	237755074	C	A	RYR2	c.4196C>A	NM_001035.2	NP_001026.2:p.(Thr1399Lys)	NC_000001.10:g.237755074C>A	(Likely) benign	1 lab	cbcca4b839
6:79700600 PHIP T>C	6	79700600	79700600	T	C	PHIP	c.2304A>G	NM_017934.7	NP_060404.4:p.(Ile768Met)	NC_000006.11:g.79700600T>C	VUS	1 lab	10bed4211d
18:67869157 RTTN G>A	18	67869157	67869157	G	A	RTTN	c.460C>T	NM_173630.4	NP_775901.3:p.(Gln154Ter)	NC_000018.9:g.67869157G>A	(Likely) pathogenic	1 lab	1404bca79a
2:228155574 COL4A3 G>A	2	228155574	228155574	G	A	COL4A3	c.3182G>A	NM_000091.4	NP_000082.2:p.(Gly1061Asp)	NC_000002.11:g.228155574G>A	VUS	1 lab	cbd1f4d154
16:23641387 PALB2 C>T	16	23641387	23641387	C	T	PALB2	c.2088G>A	NM_024675.3	NP_078951.2:p.(Thr696=)	NC_000016.9:g.23641387C>T	(Likely) benign	1 lab	cbd312b459
8:38271148 FGFR1 A>T	8	38271148	38271148	A	T	FGFR1	c.2467T>A	NM_023110.2	NP_075598.2:p.(Ter823ArgextTer105)	NC_000008.10:g.38271148A>T	(Likely) pathogenic	1 lab	cbd4781e19
2:179401840 TTN C>T	2	179401840	179401840	C	T	TTN	c.99996G>A	NM_001267550.2	NP_001254479.2:p.(Glu33332=)	NC_000002.11:g.179401840C>T	(Likely) benign	1 lab	cbdd1e208e
4:74021870 ANKRD17 C>G	4	74021870	74021870	C	G	ANKRD17	c.718G>C	NM_032217.5	NP_115593.3:p.(Glu240Gln)	NC_000004.11:g.74021870C>G	(Likely) pathogenic	1 lab	cbe03ebcc8
8:61765640 CHD7 A>T	8	61765640	61765640	A	T	CHD7	c.6356A>T	NM_017780.4	NP_060250.2:p.(Asp2119Val)	NC_000008.10:g.61765640A>T	VUS	1 lab	cbe06480e3
9:21974800 CDKN2A C>T	9	21974800	21974800	C	T	CDKN2A	c.27G>A	NM_000077.4	NP_000068.1:p.(Met9Ile)	NC_000009.11:g.21974800C>T	(Likely) benign	1 lab	cbe202f76d
5:177580643 NHP2 C>G	5	177580643	177580643	C	G	NHP2	c.160+16G>C	NM_017838.3	NP_060308.1:p.?	NC_000005.9:g.177580643C>G	(Likely) benign	1 lab	cbe3aaa4db
2:152737403 CACNB4 C>G	2	152737403	152737403	C	G	CACNB4	c.301G>C	NM_000726.4	NP_000717.2:p.(Val101Leu)	NC_000002.11:g.152737403C>G	VUS	1 lab	140c1d3486
3:52439930 BAP1 T>G	3	52439930	52439930	T	G	BAP1	c.784-2A>C	NM_004656.3	NP_004647.1:p.?	NC_000003.11:g.52439930T>G	(Likely) pathogenic	1 lab	cbe4bf680b
8:30922580 WRN G>A	8	30922580	30922580	G	A	WRN	c.504+1G>A	NM_000553.4	NP_000544.2:p.?	NC_000008.10:g.30922580G>A	(Likely) pathogenic	1 lab	cbe7075f9b
2:47643472 MSH2 C>T	2	47643472	47643472	C	T	MSH2	c.980C>T	NM_000251.2	NP_000242.1:p.(Ala327Val)	NC_000002.11:g.47643472C>T	(Likely) benign	1 lab	cbe7e57c53
21:47676821 MCM3AP C>T	21	47676821	47676821	C	T	MCM3AP	c.3814G>A	NM_003906.5	NP_003897.2:p.(Val1272Met)	NC_000021.8:g.47676821C>T	(Likely) pathogenic	1 lab	cbe88e266d
5:112175754 APC T>G	5	112175754	112175754	T	G	APC	c.4463T>G	NM_000038.6	NP_000029.2:p.(Leu1488Ter)	NC_000005.9:g.112175754T>G	(Likely) pathogenic	1 lab	cbe9d68ae4
15:73660443 HCN4 A>G	15	73660443	73660443	A	G	HCN4	c.169T>C	NM_005477.2	NP_005468.1:p.(Ser57Pro)	NC_000015.9:g.73660443A>G	VUS	1 lab	cbec07922a
11:134127076 ACAD8 G>A	11	134127076	134127076	G	A	ACAD8	c.305G>A	NM_014384.2	NP_055199.1:p.(Arg102His)	NC_000011.9:g.134127076G>A	VUS	1 lab	cbec2540b6
X:107815039 COL4A5 A>G	X	107815039	107815039	A	G	COL4A5	c.439-2A>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107815039A>G	(Likely) pathogenic	1 lab	cbec2559c6
3:70014016 MITF C>T	3	70014016	70014016	C	T	MITF	c.877C>T	NM_000248.3	NP_000239.1:p.(Arg293Ter)	NC_000003.11:g.70014016C>T	(Likely) pathogenic	1 lab	cbedd152fc
11:1078647 LOC127820084 G>C	11	1078647	1078647	G	C	LOC127820084				NC_000011.9:g.1078647G>C	VUS	1 lab	cbeff5e9d2
6:118014240 NUS1 G>T	6	118014240	118014240	G	T	NUS1	c.451G>T	NM_138459.5	NP_612468.1:p.(Glu151Ter)	NC_000006.11:g.118014240G>T	(Likely) pathogenic	1 lab	cbf0f6e4c0
6:112480078 LAMA4 G>A	6	112480078	112480078	G	A	LAMA4	c.1673C>T	NM_001105206.2	NP_001098676.2:p.(Ala558Val)	NC_000006.11:g.112480078G>A	(Likely) benign	1 lab	cbf56d9de1
6:3157693 TUBB2A C>A	6	3157693	3157693	C	A	TUBB2A	c.5G>T	NM_001069.3	NP_001060.1:p.(Arg2Leu)	NC_000006.11:g.3157693C>A	(Likely) pathogenic	1 lab	cbf617ae47
X:106882689 PRPS1 G>A	X	106882689	106882689	G	A	PRPS1	c.287G>A	NM_002764.3	NP_002755.1:p.(Arg96Gln)	NC_000023.10:g.106882689G>A	VUS	1 lab	cbfb3eb603
8:61765462 CHD7 C>G	8	61765462	61765462	C	G	CHD7	c.6178C>G	NM_017780.3	NP_060250.2:p.(Leu2060Val)	NC_000008.10:g.61765462C>G	(Likely) pathogenic	1 lab	cbfd6a7d01
X:100662861 GLA C>G	X	100662861	100662861	C	G	GLA	c.31G>C	NM_000169.2	NP_000160.1:p.(Gly11Arg)	NC_000023.10:g.100662861C>G	VUS	1 lab	cbfe89be7c
2:179649002 TTN T>C	2	179649002	179649002	T	C	TTN	c.2570A>G	NM_001267550.2	NP_001254479.2:p.(Lys857Arg)	NC_000002.11:g.179649002T>C	VUS	1 lab	cbfea9e035
6:137143805 PEX7 T>G	6	137143805	137143805	T	G	PEX7	c.2T>G	NM_000288.4	NP_000279.1:p.(Met1?)	NC_000006.11:g.137143805T>G	VUS	1 lab	10c00c2a21
2:228172521 COL4A3 C>T	2	228172521	228172521	C	T	COL4A3	c.4348C>T	NM_000091.5	NP_000082.2:p.(Arg1450Ter)	NC_000002.11:g.228172521C>T	(Likely) pathogenic	1 lab	cc00af4de4
11:17548860 USH1C G>A	11	17548860	17548860	G	A	USH1C	c.406C>T	NM_153676.3	NP_710142.1:p.(Arg136Trp)	NC_000011.9:g.17548860G>A	VUS	1 lab	cc05666de0
12:25378633 KRAS G>A	12	25378633	25378633	G	A	KRAS	c.365C>T	NM_033360.4	NP_203524.1:p.(Ser122Phe)	NC_000012.11:g.25378633G>A	VUS	1 lab	cc05fb8f78
2:166229813 SCN2A G>A	2	166229813	166229813	G	A	SCN2A	c.3928G>A	NM_001040142.2	NP_001035232.1:p.(Ala1310Thr)	NC_000002.11:g.166229813G>A	VUS	1 lab	cc07974594
1:231411880 GNPAT G>T	1	231411880	231411880	G	T	GNPAT	c.1938-1G>T	NM_014236.3	NP_055051.1:p.?	NC_000001.10:g.231411880G>T	(Likely) pathogenic	1 lab	cc093acee5
3:46904708 MYL3 C>A	3	46904708	46904708	C	A	MYL3	c.129+44G>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46904708C>A	(Likely) benign	1 lab	cc155d3ec5
21:45713674 AIRE C>T	21	45713674	45713674	C	T	AIRE				NC_000021.8:g.45713674C>T	(Likely) benign	1 lab	1427df629c
2:179397926 TTN G>C	2	179397926	179397926	G	C	TTN	c.103416C>G	NM_001267550.2	NP_001254479.2:p.(His34472Gln)	NC_000002.11:g.179397926G>C	VUS	1 lab	cc17ef39f4
19:613440 HCN2 A>G	19	613440	613440	A	G	HCN2	c.1777A>G	NM_001194.3	NP_001185.3:p.(Thr593Ala)	NC_000019.9:g.613440A>G	VUS	1 lab	cc18d47c45
2:60688594 BCL11A C>A	2	60688594	60688594	C	A	BCL11A	c.1453G>T	NM_022893.3	NP_075044.2:p.(Glu485Ter)	NC_000002.11:g.60688594C>A	(Likely) pathogenic	1 lab	cc1d7c08c0
16:2159996 PKD1 G>A	16	2159996	2159996	G	A	PKD1	c.5172C>T	NM_001009944.2	NP_001009944.2:p.(Ala1724=)	NC_000016.9:g.2159996G>A	(Likely) benign	1 lab	cc1e00a9fb
7:143016931 CLCN1 G>A	7	143016931	143016931	G	A	CLCN1	c.264G>A	NM_000083.2	NP_000074.2:p.(Val88=)	NC_000007.13:g.143016931G>A	(Likely) pathogenic	1 lab	cc1f385bc8
8:43052872 HGSNAT A>G	8	43052872	43052872	A	G	HGSNAT				NC_000008.10:g.43052872A>G	VUS	1 lab	cc23b71083
11:108138008 ATM C>T	11	108138008	108138008	C	T	ATM	c.2577C>T	NM_000051.4	NP_000042.3:p.(Asn859=)	NC_000011.9:g.108138008C>T	(Likely) benign	1 lab	cc23c4d4cb
1:94497333 ABCA4 C>T	1	94497333	94497333	C	T	ABCA4				NC_000001.10:g.94497333C>T	(Likely) pathogenic	1 lab	cc23fcc460
X:154743644 TMLHE TA>T	X	154743644	154743645	TA	T	TMLHE	c.638+2del	NM_018196.3	NP_060666.1:p.?	NC_000023.10:g.154743645del	(Likely) pathogenic	1 lab	cc276f46a7
8:61768694 CHD7 T>C	8	61768694	61768694	T	C	CHD7	c.7097T>C	NM_017780.4	NP_060250.2:p.(Leu2366Pro)	NC_000008.10:g.61768694T>C	VUS	1 lab	cc2a5f70ef
1:227058344 PSEN2 A>G	1	227058344	227058344	A	G	PSEN2	c.-356A>G	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227058344A>G	(Likely) benign	1 lab	cc2a9bc349
3:37050396 MLH1 G>A	3	37050396	37050396	G	A	MLH1	c.545G>A	NM_000249.3	NP_000240.1:p.(Arg182Lys)	NC_000003.11:g.37050396G>A	(Likely) pathogenic	1 lab	cc2c52c9f7
1:7725260 CAMTA1 G>A	1	7725260	7725260	G	A	CAMTA1	c.2652+1G>A	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7725260G>A	VUS	1 lab	cc2e3e1f09
16:23641152 PALB2 G>A	16	23641152	23641152	G	A	PALB2	c.2323C>T	NM_024675.3	NP_078951.2:p.(Gln775Ter)	NC_000016.9:g.23641152G>A	(Likely) pathogenic	1 lab	cc2ec77cac
17:41245711 BRCA1 T>C	17	41245711	41245711	T	C	BRCA1	c.1837A>G	NM_007294.4	NP_009225.1:p.(Arg613Gly)	NC_000017.10:g.41245711T>C	(Likely) benign	1 lab	cc2efe497a
2:200188569 SATB2 AC>A	2	200188569	200188571	AC	A	SATB2				NC_000002.11:g.200188571del	(Likely) pathogenic	1 lab	cc2f3b9a54
3:38740003 SCN10A T>C	3	38740003	38740003	T	C	SCN10A	c.4708A>G	NM_006514.4	NP_006505.4:p.(Thr1570Ala)	NC_000003.11:g.38740003T>C	VUS	1 lab	cc303e9216
3:128204665 GATA2 TCGTGGGCAGCCGCCGGCA>T	3	128204665	128204684	TCGTGGGCAGCCGCCGGCA	T	GATA2	c.758_775del	NM_001145661.1	NP_001139133.1:p.(Val253_His258del)	NC_000003.11:g.128204667_128204684del	VUS	1 lab	cc31a1892e
1:196799746 CFHR1 C>G	1	196799746	196799746	C	G	CFHR1	c.724C>G	NM_002113.2	NP_002104.2:p.(Gln242Glu)	NC_000001.10:g.196799746C>G	(Likely) benign	1 lab	cc32c34ea7
14:102505069 DYNC1H1 C>G	14	102505069	102505069	C	G	DYNC1H1	c.11090C>G	NM_001376.4	NP_001367.2:p.(Thr3697Ser)	NC_000014.8:g.102505069C>G	VUS	1 lab	cc34f7fb64
20:5283032 PROKR2 C>T	20	5283032	5283032	C	T	PROKR2	c.809G>A	NM_144773.2	NP_658986.1:p.(Arg270His)	NC_000020.10:g.5283032C>T	VUS	1 lab	cc358ebf35
2:47643591 MSH2 C>T	2	47643591	47643591	C	T	MSH2	c.1076+23C>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47643591C>T	(Likely) benign	1 lab	cc373211cd
12:65268990 TBC1D30 C>T	12	65268990	65268990	C	T	TBC1D30	c.1708C>T	NM_015279.1	NP_056094.1:p.(Arg570Ter)	NC_000012.11:g.65268990C>T	(Likely) pathogenic	1 lab	cc39bf0a9d
2:228563675 SLC19A3 C>T	2	228563675	228563675	C	T	SLC19A3	c.756G>A	NM_025243.3	NP_079519.1:p.(Leu252=)	NC_000002.11:g.228563675C>T	(Likely) benign	1 lab	cc3b9d1130
1:228552765 OBSCN AC>A	1	228552765	228552766	AC	A	OBSCN	c.21797del	NM_001271223.2	NP_001258152.2:p.(Thr7266MetfsTer53)	NC_000001.10:g.228552766del	(Likely) benign	1 lab	cc3c98efa0
17:10438478 MYH2 G>C	17	10438478	10438478	G	C	MYH2	c.2092C>G	NM_017534.5	NP_060004.3:p.(Gln698Glu)	NC_000017.10:g.10438478G>C	VUS	1 lab	cc3e555083
21:35821671 KCNE1 G>A	21	35821671	35821671	G	A	KCNE1	c.262C>T	NM_000219.5	NP_000210.2:p.(Gln88Ter)	NC_000021.8:g.35821671G>A	(Likely) pathogenic	1 lab	cc4263b10b
8:102564949 GRHL2 C>T	8	102564949	102564949	C	T	GRHL2	c.223C>T	NM_024915.4	NP_079191.2:p.(Arg75Ter)	NC_000008.10:g.102564949C>T	(Likely) pathogenic	1 lab	cc456b9db4
12:56495022 ERBB3 C>T	12	56495022	56495022	C	T	ERBB3	c.3379C>T	NM_001982.3	NP_001973.2:p.(Arg1127Cys)	NC_000012.11:g.56495022C>T	VUS	1 lab	cc4a49fe57
12:48372469 COL2A1 C>T	12	48372469	48372469	C	T	COL2A1	c.2806G>A	NM_001844.5	NP_001835.3:p.(Gly936Ser)	NC_000012.11:g.48372469C>T	(Likely) pathogenic	1 lab	cc4baf61b5
4:113350384 ALPK1 C>T	4	113350384	113350384	C	T	ALPK1	c.875C>T	NM_025144.4	NP_079420.3:p.(Thr292Met)	NC_000004.11:g.113350384C>T	VUS	1 lab	10c6252d1d
5:112116523 APC G>T	5	112116523	112116523	G	T	APC	c.568G>T	NM_000038.6	NP_000029.2:p.(Glu190Ter)	NC_000005.9:g.112116523G>T	(Likely) pathogenic	1 lab	cc4fe6dad4
16:89346730 ANKRD11 C>A	16	89346730	89346730	C	A	ANKRD11	c.6220G>T	NM_013275.6	NP_037407.4:p.(Glu2074Ter)	NC_000016.9:g.89346730C>A	(Likely) pathogenic	1 lab	cc500092c4
17:41244299 BRCA1 C>A	17	41244299	41244299	C	A	BRCA1	c.3249G>T	NM_007294.3	NP_009225.1:p.(Met1083Ile)	NC_000017.10:g.41244299C>A	VUS	1 lab	cc50c7bfcd
13:32930739 BRCA2 A>G	13	32930739	32930739	A	G	BRCA2	c.7610A>G	NM_000059.3	NP_000050.2:p.(His2537Arg)	NC_000013.10:g.32930739A>G	VUS	1 lab	cc5188564f
17:59926490 BRIP1 C>T	17	59926490	59926490	C	T	BRIP1	c.507G>A	NM_032043.3	NP_114432.2:p.(Gln169=)	NC_000017.10:g.59926490C>T	(Likely) pathogenic	1 lab	cc5353ed63
X:107807111 COL4A5 G>A	X	107807111	107807111	G	A	COL4A5	c.232-1G>A	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107807111G>A	(Likely) pathogenic	1 lab	cc54338447
2:48028264 MSH6 C>T	2	48028264	48028264	C	T	MSH6	c.3142C>T	NM_000179.3	NP_000170.1:p.(Gln1048Ter)	NC_000002.11:g.48028264C>T	(Likely) pathogenic	1 lab	cc55e55f14
10:55591150 PCDH15 G>T	10	55591150	55591150	G	T	PCDH15	c.4127C>A	NM_033056.4	NP_149045.3:p.(Ala1376Asp)	NC_000010.10:g.55591150G>T	(Likely) pathogenic	1 lab	cc5b17aac3
9:126133046 CRB2 G>T	9	126133046	126133046	G	T	CRB2	c.1714G>T	NM_173689.7	NP_775960.4:p.(Gly572Trp)	NC_000009.11:g.126133046G>T	VUS	1 lab	cc5b5536de
13:23915307 SACS A>G	13	23915307	23915307	A	G	SACS	c.2708T>C	NM_014363.5	NP_055178.3:p.(Leu903Pro)	NC_000013.10:g.23915307A>G	VUS	1 lab	cc5c64ff45
2:232790334 NPPC C>A	2	232790334	232790334	C	A	NPPC	c.182G>T	NM_024409.4	NP_077720.1:p.(Gly61Val)	NC_000002.11:g.232790334C>A	VUS	1 lab	cc5d1bf660
6:1611072 FOXC1 C>A	6	1611072	1611072	C	A	FOXC1	c.392C>A	NM_001453.2	NP_001444.2:p.(Ser131Ter)	NC_000006.11:g.1611072C>A	(Likely) pathogenic	1 lab	cc62759460
10:89685271 PTEN T>G	10	89685271	89685271	T	G	PTEN	c.166T>G	NM_000314.4	NP_000305.3:p.(Phe56Val)	NC_000010.10:g.89685271T>G	(Likely) pathogenic	1 lab	cc62ba2905
15:34542550 SLC12A6 C>T	15	34542550	34542550	C	T	SLC12A6	c.1598G>A	NM_001365088.1	NP_001352017.1:p.(Ser533Asn)	NC_000015.9:g.34542550C>T	VUS	1 lab	cc63b791a7
3:46723551 ALS2CL G>A	3	46723551	46723551	G	A	ALS2CL	c.1143C>T	NM_147129.3	NP_667340.2:p.(His381=)	NC_000003.11:g.46723551G>A	(Likely) benign	1 lab	cc64784713
X:49075195 CACNA1F C>G	X	49075195	49075195	C	G	CACNA1F	c.2767-1G>C	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49075195C>G	(Likely) pathogenic	1 lab	cc65afe533
1:179520254 NPHS2 C>G	1	179520254	179520254	C	G	NPHS2	c.*54G>C	NM_014625.3	NP_055440.1:p.?	NC_000001.10:g.179520254C>G	(Likely) benign	1 lab	14144b09d0
1:112319765 KCND3 C>T	1	112319765	112319765	C	T	KCND3	c.1649G>A	NM_004980.4	NP_004971.2:p.(Arg550His)	NC_000001.10:g.112319765C>T	(Likely) pathogenic	1 lab	cc69937cf0
20:32873447 AHCY G>A	20	32873447	32873447	G	A	AHCY	c.973-7C>T	NM_000687.4	NP_000678.1:p.?	NC_000020.10:g.32873447G>A	(Likely) benign	1 lab	10d14e1203
14:90422928 TDP1 A>G	14	90422928	90422928	A	G	TDP1	c.-224A>G	NM_018319.3	NP_060789.2:p.?	NC_000014.8:g.90422928A>G	(Likely) benign	1 lab	cc6af848f9
7:91707140 AKAP9 A>G	7	91707140	91707140	A	G	AKAP9	c.6896A>G	NM_005751.4	NP_005742.4:p.(Glu2299Gly)	NC_000007.13:g.91707140A>G	(Likely) benign	1 lab	cc6bda16f9
X:31645924 DMD G>A	X	31645924	31645924	G	A	DMD	c.703C>T	NM_004023.2	NP_004014.1:p.(Pro235Ser)	NC_000023.10:g.31645924G>A	(Likely) benign	1 lab	cc6c135742
2:179565904 TTN T>A	2	179565904	179565904	T	A	TTN	c.26893A>T	NM_133378.4	NP_596869.4:p.(Ile8965Phe)	NC_000002.11:g.179565904T>A	VUS	1 lab	cc736122f5
5:92921192 NR2F1 G>A	5	92921192	92921192	G	A	NR2F1	c.463G>A	NM_005654.5	NP_005645.1:p.(Ala155Thr)	NC_000005.9:g.92921192G>A	(Likely) pathogenic	1 lab	cc7478d399
20:62073871 KCNQ2 G>A	20	62073871	62073871	G	A	KCNQ2	c.704C>T	NM_172107.4	NP_742105.1:p.(Ala235Val)	NC_000020.10:g.62073871G>A	(Likely) pathogenic	1 lab	cc75f90854
19:6502701 TUBB4A G>A	19	6502701	6502701	G	A	TUBB4A	c.22C>T	NM_001289123.2	NP_001276052.1:p.(Arg8Ter)	NC_000019.9:g.6502701G>A	VUS	1 lab	10d29314b5
3:38645431 SCN5A G>A	3	38645431	38645431	G	A	SCN5A	c.1662C>T	NM_198056.2	NP_932173.1:p.(Ser554=)	NC_000003.11:g.38645431G>A	(Likely) benign	1 lab	cc77433c4b
13:32931935 BRCA2 G>C	13	32931935	32931935	G	C	BRCA2	c.7674G>C	NM_000059.3	NP_000050.2:p.(Glu2558Asp)	NC_000013.10:g.32931935G>C	VUS	1 lab	cc79bb98a4
7:151292418 PRKAG2 G>A	7	151292418	151292418	G	A	PRKAG2	c.864+13C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151292418G>A	(Likely) benign	1 lab	cc7b2dabea
2:167269648 SCN7A C>T	2	167269648	167269648	C	T	SCN7A	c.3415-17G>A	NM_002976.3	NP_002967.2:p.?	NC_000002.11:g.167269648C>T	(Likely) benign	1 lab	cc7ddd7127
16:1506131 CLCN7 G>A	16	1506131	1506131	G	A	CLCN7	c.899C>T	NM_001287.5	NP_001278.1:p.(Ala300Val)	NC_000016.9:g.1506131G>A	VUS	1 lab	cc7fe4ede5
7:47874830 PKD1L1 G>A	7	47874830	47874830	G	A	PKD1L1	c.5955C>T	NM_138295.4	NP_612152.1:p.(Asp1985=)	NC_000007.13:g.47874830G>A	(Likely) benign	1 lab	cc804deb18
11:17552724 USH1C G>A	11	17552724	17552724	G	A	USH1C	c.364C>T	NM_153676.3	NP_710142.1:p.(Gln122Ter)	NC_000011.9:g.17552724G>A	(Likely) pathogenic	1 lab	cc8099082a
3:38655358 SCN5A G>A	3	38655358	38655358	G	A	SCN5A	c.612-33C>T	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38655358G>A	(Likely) benign	1 lab	cc855ebb1d
2:215797332 ABCA12 C>T	2	215797332	215797332	C	T	ABCA12	c.*26G>A	NM_173076.2	NP_775099.2:p.?	NC_000002.11:g.215797332C>T	(Likely) benign	1 lab	cc85adaa72
10:88232455 MISSING A>AT	10	88232455	88232456	A	AT	MISSING				NC_000010.10:g.88232456dup	VUS	1 lab	cc85e6ee73
X:12736108 FRMPD4 G>A	X	12736108	12736108	G	A	FRMPD4	c.3163G>A	NM_014728.3	NP_055543.2:p.(Ala1055Thr)	NC_000023.10:g.12736108G>A	VUS	1 lab	cc86aeec52
16:68862158 CDH1 G>A	16	68862158	68862158	G	A	CDH1	c.2246G>A	NM_004360.3	NP_004351.1:p.(Arg749Gln)	NC_000016.9:g.68862158G>A	VUS	1 lab	cc86ddcb07
17:26861536 FOXN1 G>A	17	26861536	26861536	G	A	FOXN1	c.1115G>A	NM_003593.2	NP_003584.2:p.(Arg372His)	NC_000017.10:g.26861536G>A	VUS	1 lab	cc8789491b
2:210786341 UNC80 G>A	2	210786341	210786341	G	A	UNC80	c.5263G>A	NM_032504.2	NP_115893.1:p.(Ala1755Thr)	NC_000002.11:g.210786341G>A	VUS	1 lab	10d3eb3be0
2:179648829 TTN G>A	2	179648829	179648829	G	A	TTN	c.2743C>T	NM_001267550.2	NP_001254479.2:p.(Arg915Cys)	NC_000002.11:g.179648829G>A	(Likely) benign	1 lab	cc8c1deaae
2:48010597 MSH6 G>A	2	48010597	48010597	G	A	MSH6	c.225G>A	NM_000179.2	NP_000170.1:p.(Gly75=)	NC_000002.11:g.48010597G>A	(Likely) benign	1 lab	cc8ce34cb7
X:128649963 SMARCA1 T>C	X	128649963	128649963	T	C	SMARCA1	c.437A>G	NM_001282874.2	NP_001269803.1:p.(His146Arg)	NC_000023.10:g.128649963T>C	(Likely) benign	1 lab	cc913ae10f
11:108202430 ATM A>G	11	108202430	108202430	A	G	ATM	c.7629+146A>G	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108202430A>G	(Likely) benign	1 lab	cc9227464d
1:169572294 SELP G>A	1	169572294	169572294	G	A	SELP	c.1675C>T	NM_003005.3	NP_002996.2:p.(Arg559Cys)	NC_000001.10:g.169572294G>A	VUS	1 lab	cc92e9ad7f
11:36595828 RAG1 G>A	11	36595828	36595828	G	A	RAG1	c.974G>A	NM_000448.2	NP_000439.1:p.(Gly325Asp)	NC_000011.9:g.36595828G>A	(Likely) benign	1 lab	141ae76d04
2:166245192 SCN2A C>T	2	166245192	166245192	C	T	SCN2A	c.4876C>T	NM_001040142.1	NP_001035232.1:p.(Arg1626Ter)	NC_000002.11:g.166245192C>T	(Likely) pathogenic	1 lab	cc980bf641
3:37067154 MLH1 C>T	3	37067154	37067154	C	T	MLH1	c.1065C>T	NM_000249.3	NP_000240.1:p.(Pro355=)	NC_000003.11:g.37067154C>T	(Likely) benign	1 lab	cc980ef025
2:228120703 COL4A3 T>C	2	228120703	228120703	T	C	COL4A3	c.889-39T>C	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228120703T>C	(Likely) benign	1 lab	cc9eec39ad
3:193361795 OPA1 T>TA	3	193361795	193361796	T	TA	OPA1	c.1510dup	NM_130837.2	NP_570850.2:p.(Thr504AsnfsTer39)	NC_000003.11:g.193361796dup	(Likely) pathogenic	1 lab	cca065b4c7
10:89712018 PTEN T>C	10	89712018	89712018	T	C	PTEN	c.634+2T>C	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89712018T>C	(Likely) pathogenic	1 lab	cca0bb22d0
15:48797345 FBN1 C>G	15	48797345	48797345	C	G	FBN1	c.1838-1G>C	NM_000138.4	NP_000129.3:p.?	NC_000015.9:g.48797345C>G	VUS	1 lab	cca11eb123
14:24775579 CIDEB C>T	14	24775579	24775579	C	T	CIDEB	c.336+1G>A	NM_014430.3	NP_055245.2:p.?	NC_000014.8:g.24775579C>T	VUS	1 lab	10de71eb13
4:1801105 FGFR3 C>G	4	1801105	1801105	C	G	FGFR3	c.234C>G	NM_000142.4	NP_000133.1:p.(Gly78=)	NC_000004.11:g.1801105C>G	(Likely) benign	1 lab	cca3176b37
6:32006263 CYP21A2 T>C	6	32006263	32006263	T	C	CYP21A2	c.64T>C	NM_000500.7	NP_000491.4:p.(Trp22Arg)	NC_000006.11:g.32006263T>C	(Likely) benign	1 lab	cca3b12e72
15:90177050 KIF7 C>T	15	90177050	90177050	C	T	KIF7	c.2459G>A	NM_198525.2	NP_940927.2:p.(Arg820Gln)	NC_000015.9:g.90177050C>T	VUS	1 lab	cca44d60b0
6:112575043 LAMA4 A>C	6	112575043	112575043	A	C	LAMA4	c.310T>G	NM_001105208.2	NP_001098678.1:p.(Phe104Val)	NC_000006.11:g.112575043A>C	(Likely) benign	1 lab	cca48c207e
X:47065363 UBA1 C>T	X	47065363	47065363	C	T	UBA1	c.1592C>T	NM_003334.4	NP_003325.2:p.(Thr531Met)	NC_000023.10:g.47065363C>T	VUS	1 lab	10deb3c16a
5:63257082 HTR1A C>A	5	63257082	63257082	C	A	HTR1A	c.465G>T	NM_000524.4	NP_000515.2:p.(Ala155=)	NC_000005.9:g.63257082C>A	(Likely) benign	1 lab	10eb05f3f3
7:151478602 PRKAG2 T>C	7	151478602	151478602	T	C	PRKAG2	c.187-85A>G	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151478602T>C	(Likely) benign	1 lab	ccac346e50
2:191859911 STAT1 G>A	2	191859911	191859911	G	A	STAT1	c.820C>T	NM_007315.3	NP_009330.1:p.(Arg274Trp)	NC_000002.11:g.191859911G>A	(Likely) pathogenic	1 lab	ccad677fe7
2:202122959 CASP8 A>T	2	202122959	202122959	A	T	CASP8	c.5A>T	NM_001080125.2	NP_001073594.1:p.(Glu2Val)	NC_000002.11:g.202122959A>T	VUS	1 lab	10eb90314b
X:49063542 CACNA1F G>A	X	49063542	49063542	G	A	CACNA1F	c.5188C>T	NM_005183.4	NP_005174.2:p.(Pro1730Ser)	NC_000023.10:g.49063542G>A	VUS	1 lab	10f07c14db
5:223640 SDHA C>T	5	223640	223640	C	T	SDHA	c.107C>T	NM_004168.4	NP_004159.2:p.(Thr36Ile)	NC_000005.9:g.223640C>T	(Likely) benign	1 lab	ccafbe5d7f
8:144900656 PUF60 C>A	8	144900656	144900656	C	A	PUF60	c.397G>T	NM_078480.2	NP_510965.1:p.(Val133Leu)	NC_000008.10:g.144900656C>A	(Likely) pathogenic	1 lab	ccb000c5b8
22:38508217 PLA2G6 TCA>T	22	38508217	38508219	TCA	T	PLA2G6	c.2370_2371del	NM_003560.2	NP_003551.2:p.(Tyr790Ter)	NC_000022.10:g.38508218_38508219del	(Likely) pathogenic	1 lab	ccb1461ec6
9:109686931 ZNF462 G>GT	9	109686931	109686932	G	GT	ZNF462	c.739dup	NM_021224.6	NP_067047.4:p.(Trp247LeufsTer14)	NC_000009.11:g.109686932dup	(Likely) pathogenic	1 lab	ccb179bd2c
12:6125335 VWF G>T	12	6125335	6125335	G	T	VWF	c.5375C>A	NM_000552.3	NP_000543.2:p.(Ala1792Asp)	NC_000012.11:g.6125335G>T	VUS	1 lab	ccb183d2a2
6:33133707 COL11A2 C>A	6	33133707	33133707	C	A	COL11A2	c.4482+1G>T	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33133707C>A	(Likely) pathogenic	1 lab	ccb1f48584
6:133105071 SLC18B1 C>G	6	133105071	133105071	C	G	SLC18B1	c.658+1G>C	NM_052831.2	NP_439896.1:p.?	NC_000006.11:g.133105071C>G	VUS	1 lab	ccb49f7f57
12:33031937 PKP2 C>A	12	33031937	33031937	C	A	PKP2	c.253G>T	NM_004572.3	NP_004563.2:p.(Glu85Ter)	NC_000012.11:g.33031937C>A	VUS	1 lab	ccbd7975c8
13:32914742 BRCA2 G>T	13	32914742	32914742	G	T	BRCA2	c.6250G>T	NM_000059.3	NP_000050.2:p.(Asp2084Tyr)	NC_000013.10:g.32914742G>T	VUS	1 lab	ccbdbac5f6
3:37034826 MLH1 G>A	3	37034826	37034826	G	A	MLH1				NC_000003.11:g.37034826G>A	(Likely) benign	1 lab	ccbde33b89
5:1294418 TERT T>C	5	1294418	1294418	T	C	TERT	c.583A>G	NM_198253.2	NP_937983.2:p.(Arg195Gly)	NC_000005.9:g.1294418T>C	(Likely) benign	1 lab	14221f6a46
10:69881895 MYPN A>G	10	69881895	69881895	A	G	MYPN	c.700A>G	NM_032578.3	NP_115967.2:p.(Lys234Glu)	NC_000010.10:g.69881895A>G	(Likely) benign	1 lab	ccbf349cdb
14:105170207 INF2 C>T	14	105170207	105170207	C	T	INF2	c.668-46C>T	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105170207C>T	(Likely) benign	1 lab	153e38205f
1:241667547 FH T>C	1	241667547	241667547	T	C	FH	c.905-2A>G	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241667547T>C	(Likely) pathogenic	1 lab	ccc0932a9b
16:78458766 WWOX G>A	16	78458766	78458766	G	A	WWOX	c.606-1G>A	NM_016373.3	NP_057457.1:p.?	NC_000016.9:g.78458766G>A	(Likely) pathogenic	1 lab	ccc1e69542
X:49851219 CLCN5 C>T	X	49851219	49851219	C	T	CLCN5	c.1039C>T	NM_000084.4	NP_000075.1:p.(Arg347Ter)	NC_000023.10:g.49851219C>T	(Likely) pathogenic	1 lab	ccc3a25726
3:38651294 SCN5A C>T	3	38651294	38651294	C	T	SCN5A	c.865G>A	NM_198056.2	NP_932173.1:p.(Gly289Ser)	NC_000003.11:g.38651294C>T	VUS	1 lab	ccc4d016d6
X:41383299 CASK A>G	X	41383299	41383299	A	G	CASK	c.2506-12T>C	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41383299A>G	(Likely) benign	1 lab	1425c65456
2:230675677 TRIP12 C>G	2	230675677	230675677	C	G	TRIP12				NC_000002.11:g.230675677C>G	VUS	1 lab	ccc82fef48
2:220435883 OBSL1 T>TA	2	220435883	220435884	T	TA	OBSL1	c.71dup	NM_015311.3	NP_056126.1:p.(Ser25LysfsTer229)	NC_000002.11:g.220435884dup	(Likely) pathogenic	1 lab	ccc8607230
20:3063797 AVP C>T	20	3063797	3063797	C	T	AVP	c.148G>A	NM_000490.4	NP_000481.2:p.(Gly50Ser)	NC_000020.10:g.3063797C>T	VUS	1 lab	ccc8ac41ae
9:117666 FOXD4 T>C	9	117666	117666	T	C	FOXD4	c.454A>G	NM_207305.5	NP_997188.2:p.(Ile152Val)	NC_000009.11:g.117666T>C	(Likely) benign	1 lab	10fd35dda0
1:210977485 KCNH1 C>T	1	210977485	210977485	C	T	KCNH1	c.1486G>A	NM_172362.3	NP_758872.1:p.(Gly496Arg)	NC_000001.10:g.210977485C>T	(Likely) pathogenic	1 lab	cccdbdd852
2:240085544 HDAC4 C>T	2	240085544	240085544	C	T	HDAC4	c.566G>A	NM_006037.4	NP_006028.2:p.(Arg189Gln)	NC_000002.11:g.240085544C>T	(Likely) benign	1 lab	1100156852
7:83029430 SEMA3E G>GT	7	83029430	83029435	G	GT	SEMA3E	c.1279dup	NM_012431.3	NP_036563.1:p.(Thr427AsnfsTer6)	NC_000007.13:g.83029435dup	VUS	1 lab	ccd0ada7ca
19:36223743 KMT2B C>A	19	36223743	36223743	C	A	KMT2B	c.6293C>A	NM_014727.2	NP_055542.1:p.(Ala2098Asp)	NC_000019.9:g.36223743C>A	VUS	1 lab	ccd51ace7c
8:11565796 GATA4 A>G	8	11565796	11565796	A	G	GATA4	c.-26A>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11565796A>G	(Likely) benign	1 lab	ccd71ea8c3
19:7620585 PNPLA6 G>A	19	7620585	7620585	G	A	PNPLA6	c.2915G>A	NM_006702.4	NP_006693.3:p.(Gly972Glu)	NC_000019.9:g.7620585G>A	VUS	1 lab	ccda134e4a
1:156108377 LMNA TG>AT	1	156108377	156108378	TG	AT	LMNA	c.1797_1798delinsAT	NM_170707.3	NP_733821.1:p.(Ala600Ser)	NC_000001.10:g.156108377_156108378delinsAT	VUS	1 lab	ccdcef871a
16:56899326 SLC12A3 C>T	16	56899326	56899326	C	T	SLC12A3	c.179C>T	NM_000339.3	NP_000330.3:p.(Thr60Met)	NC_000016.9:g.56899326C>T	(Likely) pathogenic	1 lab	ccdd198175
17:41196363 BRCA1 C>T	17	41196363	41196363	C	T	BRCA1	c.*1332G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41196363C>T	(Likely) benign	1 lab	ccdd73cb7b
19:42880878 MEGF8 G>A	19	42880878	42880878	G	A	MEGF8	c.8288G>A	NM_001410.3	NP_001401.2:p.(Gly2763Asp)	NC_000019.9:g.42880878G>A	VUS	1 lab	1119cff271
2:47703504 MSH2 A>T	2	47703504	47703504	A	T	MSH2	c.2006-2A>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47703504A>T	(Likely) pathogenic	1 lab	ccddf62293
9:95491439 BICD2 G>A	9	95491439	95491439	G	A	BICD2	c.320C>T	NM_015250.3	NP_056065.1:p.(Ser107Leu)	NC_000009.11:g.95491439G>A	(Likely) pathogenic	1 lab	cce552301c
8:72129249 EYA1 G>A	8	72129249	72129249	G	A	EYA1	c.1150C>T	NM_172058.2	NP_742055.1:p.(Gln384Ter)	NC_000008.10:g.72129249G>A	(Likely) pathogenic	1 lab	cce6231f19
2:166870321 SCN1A C>T	2	166870321	166870321	C	T	SCN1A	c.3638G>A	NM_001165963.1	NP_001159435.1:p.(Arg1213Gln)	NC_000002.11:g.166870321C>T	VUS	1 lab	cceb964334
10:21108365 NEBL C>T	10	21108365	21108365	C	T	NEBL	c.2043G>A	NM_006393.2	NP_006384.1:p.(Glu681=)	NC_000010.10:g.21108365C>T	(Likely) benign	1 lab	ccec87ff8c
2:179437358 TTN C>T	2	179437358	179437358	C	T	TTN	c.73501G>A	NM_001267550.2	NP_001254479.2:p.(Val24501Ile)	NC_000002.11:g.179437358C>T	(Likely) benign	1 lab	ccf1a58128
12:110780235 ATP2A2 A>G	12	110780235	110780235	A	G	ATP2A2	c.2300A>G	NM_001681.3	NP_001672.1:p.(Asn767Ser)	NC_000012.11:g.110780235A>G	(Likely) pathogenic	1 lab	ccf5bd7215
8:126088676 WASHC5 C>A	8	126088676	126088676	C	A	WASHC5	c.778G>T	NM_014846.4	NP_055661.3:p.(Val260Leu)	NC_000008.10:g.126088676C>A	VUS	1 lab	ccf67f39eb
5:176560937 NSD1 AG>A	5	176560937	176560942	AG	A	NSD1	c.-29del	NM_022455.4	NP_071900.2:p.?	NC_000005.9:g.176560942del	VUS	1 lab	ccf6cdc421
8:61777573 CHD7 A>C	8	61777573	61777573	A	C	CHD7	c.8077-2A>C	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61777573A>C	(Likely) pathogenic	1 lab	ccf7d6f5b7
11:66455021 SPTBN2 G>A	11	66455021	66455021	G	A	SPTBN2	c.6599C>T	NM_006946.2	NP_008877.1:p.(Thr2200Ile)	NC_000011.9:g.66455021G>A	(Likely) benign	1 lab	ccf8a4c8b3
6:110083398 FIG4 G>A	6	110083398	110083398	G	A	FIG4				NC_000006.11:g.110083398G>A	VUS	1 lab	de397e8924
3:151155600 IGSF10 G>C	3	151155600	151155600	G	C	IGSF10	c.6749C>G	NM_178822.5	NP_849144.2:p.(Thr2250Arg)	NC_000003.11:g.151155600G>C	VUS	1 lab	ccfae6f440
12:98938167 TMPO G>A	12	98938167	98938167	G	A	TMPO	c.783+40G>A	NM_001032283.2	NP_001027454.1:p.?	NC_000012.11:g.98938167G>A	VUS	1 lab	ccfbc288ba
16:3304380 MEFV C>A	16	3304380	3304380	C	A	MEFV	c.688G>T	NM_000243.3	NP_000234.1:p.(Glu230Ter)	NC_000016.9:g.3304380C>A	VUS	1 lab	111a593eae
11:18305452 HPS5 T>C	11	18305452	18305452	T	C	HPS5	c.2952-4A>G	NM_181507.2	NP_852608.1:p.?	NC_000011.9:g.18305452T>C	(Likely) benign	1 lab	111afeb73b
22:51020186 CHKB A>C	22	51020186	51020186	A	C	CHKB	c.439T>G	NM_005198.5	NP_005189.2:p.(Tyr147Asp)	NC_000022.10:g.51020186A>C	VUS	1 lab	111fe898a0
9:80646094 GNAQ GC>G	9	80646094	80646096	GC	G	GNAQ	c.57del	NM_002072.5	NP_002063.2:p.(Arg20GlyfsTer40)	NC_000009.11:g.80646096del	VUS	1 lab	1121fb4f97
2:202617835 ALS2 A>T	2	202617835	202617835	A	T	ALS2	c.1737+34T>A	NM_020919.4	NP_065970.2:p.?	NC_000002.11:g.202617835A>T	(Likely) benign	1 lab	142a40258c
14:65249247 SPTB TC>T	14	65249247	65249248	TC	T	SPTB	c.4026del	NM_001355436.2	NP_001342365.1:p.(Lys1343SerfsTer69)	NC_000014.8:g.65249248del	(Likely) pathogenic	1 lab	cd07893d9e
16:8904947 PMM2 T>C	16	8904947	8904947	T	C	PMM2	c.359T>C	NM_000303.2	NP_000294.1:p.(Ile120Thr)	NC_000016.9:g.8904947T>C	(Likely) pathogenic	1 lab	cd07fb37f6
14:99723941 BCL11B C>T	14	99723941	99723941	C	T	BCL11B	c.294G>A	NM_138576.4	NP_612808.1:p.(Pro98=)	NC_000014.8:g.99723941C>T	(Likely) benign	1 lab	142ab3cb09
17:29546175 NF1 T>C	17	29546175	29546175	T	C	NF1	c.1641+39T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29546175T>C	(Likely) benign	1 lab	cd0f83fde2
14:105707622 BRF1 G>A	14	105707622	105707622	G	A	BRF1	c.674C>T	NM_001519.4	NP_001510.2:p.(Pro225Leu)	NC_000014.8:g.105707622G>A	(Likely) pathogenic	1 lab	cd0fa6a601
3:47046485 NBEAL2 C>T	3	47046485	47046485	C	T	NBEAL2	c.6318C>T	NM_015175.2	NP_055990.1:p.(Tyr2106=)	NC_000003.11:g.47046485C>T	(Likely) benign	1 lab	cd1173754b
6:152772240 SYNE1 T>G	6	152772240	152772240	T	G	SYNE1				NC_000006.11:g.152772240T>G	(Likely) benign	1 lab	cd11c949c4
6:129774133 LAMA2 A>C	6	129774133	129774133	A	C	LAMA2	c.6430A>C	NM_000426.3	NP_000417.2:p.(Ile2144Leu)	NC_000006.11:g.129774133A>C	VUS	1 lab	cd126d5697
10:68940167 CTNNA3 A>G	10	68940167	68940167	A	G	CTNNA3	c.955T>C	NM_013266.3	NP_037398.2:p.(Cys319Arg)	NC_000010.10:g.68940167A>G	VUS	1 lab	cd1279b16f
7:75686789 MDH2 G>A	7	75686789	75686789	G	A	MDH2	c.297G>A	NM_005918.4	NP_005909.2:p.(Pro99=)	NC_000007.13:g.75686789G>A	(Likely) benign	1 lab	cd1535f05d
16:23646267 PALB2 A>C	16	23646267	23646267	A	C	PALB2	c.1600T>G	NM_024675.4	NP_078951.2:p.(Ser534Ala)	NC_000016.9:g.23646267A>C	VUS	1 lab	1128ebf600
1:147380809 GJA8 C>T	1	147380809	147380809	C	T	GJA8	c.727C>T	NM_005267.4	NP_005258.2:p.(Pro243Ser)	NC_000001.10:g.147380809C>T	VUS	1 lab	cd1c589fd5
3:184049395 EIF4G1 G>A	3	184049395	184049395	G	A	EIF4G1	c.4398+1G>A	NM_182917.4	NP_886553.3:p.?	NC_000003.11:g.184049395G>A	VUS	1 lab	cd1d5c6977
1:196801046 CFHR1 T>C	1	196801046	196801046	T	C	CFHR1	c.910T>C	NM_002113.3	NP_002104.2:p.(Tyr304His)	NC_000001.10:g.196801046T>C	VUS	1 lab	cd204e7fa3
2:47702241 MSH2 A>G	2	47702241	47702241	A	G	MSH2	c.1837A>G	NM_000251.2	NP_000242.1:p.(Asn613Asp)	NC_000002.11:g.47702241A>G	(Likely) benign	1 lab	cd206b4e50
2:109352542 RANBP2 G>A	2	109352542	109352542	G	A	RANBP2	c.637-18G>A	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109352542G>A	(Likely) benign	1 lab	cd26085d95
11:108098534 ATM G>A	11	108098534	108098534	G	A	ATM	c.104G>A	NM_000051.3	NP_000042.3:p.(Arg35Gln)	NC_000011.9:g.108098534G>A	(Likely) benign	1 lab	cd27259506
1:196303136 KCNT2 G>GA	1	196303136	196303137	G	GA	KCNT2	c.1837_1838insT	NM_198503.5	NP_940905.2:p.(Thr613IlefsTer16)	NC_000001.10:g.196303136_196303137insA	VUS	1 lab	cd2b578758
2:39278344 SOS1 T>C	2	39278344	39278344	T	C	SOS1	c.805A>G	NM_005633.3	NP_005624.2:p.(Met269Val)	NC_000002.11:g.39278344T>C	VUS	1 lab	cd2b630a60
4:106158315 TET2 AG>A	4	106158315	106158316	AG	A	TET2	c.3217del	NM_001127208.3	NP_001120680.1:p.(Glu1073AsnfsTer9)	NC_000004.11:g.106158316del	(Likely) pathogenic	1 lab	cd2d33093e
5:135392470 TGFBI G>A	5	135392470	135392470	G	A	TGFBI	c.1664G>A	NM_000358.3	NP_000349.1:p.(Arg555Gln)	NC_000005.9:g.135392470G>A	(Likely) pathogenic	1 lab	cd2f9eb511
19:35790734 MAG C>A	19	35790734	35790734	C	A	MAG	c.693C>A	NM_002361.3	NP_002352.1:p.(Tyr231Ter)	NC_000019.9:g.35790734C>A	VUS	1 lab	cd30ff7205
13:20767026 GJB2 C>G	13	20767026	20767026	C	G	GJB2	c.-127G>C	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20767026C>G	(Likely) benign	1 lab	cd31419834
2:234669403 UGT1A1 G>A	2	234669403	234669403	G	A	UGT1A1	c.470G>A	NM_000463.2	NP_000454.1:p.(Ser157Asn)	NC_000002.11:g.234669403G>A	VUS	1 lab	cd320ac0ab
13:32944546 BRCA2 C>A	13	32944546	32944546	C	A	BRCA2	c.8339C>A	NM_000059.3	NP_000050.2:p.(Ala2780Asp)	NC_000013.10:g.32944546C>A	VUS	1 lab	cd3621483c
15:99486259 IGF1R T>C	15	99486259	99486259	T	C	IGF1R	c.3565T>C	NM_000875.5	NP_000866.1:p.(Phe1189Leu)	NC_000015.9:g.99486259T>C	VUS	1 lab	cd376fbfc5
11:121008277 TECTA G>C	11	121008277	121008277	G	C	TECTA				NC_000011.9:g.121008277G>C	(Likely) pathogenic	1 lab	cd38133835
X:54497098 FGD1 G>A	X	54497098	54497098	G	A	FGD1	c.577C>T	NM_004463.2	NP_004454.2:p.(Arg193Ter)	NC_000023.10:g.54497098G>A	(Likely) pathogenic	1 lab	cd3ccd26f9
2:32341223 SPAST A>G	2	32341223	32341223	A	G	SPAST	c.1040A>G	NM_014946.3	NP_055761.2:p.(Gln347Arg)	NC_000002.11:g.32341223A>G	VUS	1 lab	cd3ed77244
2:20205933 MATN3 C>T	2	20205933	20205933	C	T	MATN3	c.362G>A	NM_002381.5	NP_002372.1:p.(Arg121Gln)	NC_000002.11:g.20205933C>T	VUS	1 lab	cd40ff4b43
12:6442532 TNFRSF1A C>G	12	6442532	6442532	C	G	TNFRSF1A	c.472+1G>C	NM_001065.4	NP_001056.1:p.?	NC_000012.11:g.6442532C>G	(Likely) pathogenic	1 lab	cd419921b5
17:41063381 G6PC1 G>T	17	41063381	41063381	G	T	G6PC1	c.1012G>T	NM_000151.4	NP_000142.2:p.(Val338Phe)	NC_000017.10:g.41063381G>T	(Likely) pathogenic	1 lab	112916a6b4
X:63412095 AMER1 G>A	X	63412095	63412095	G	A	AMER1	c.1072C>T	NM_152424.3	NP_689637.3:p.(Arg358Ter)	NC_000023.10:g.63412095G>A	(Likely) pathogenic	1 lab	cd48169b51
16:31123548 BCKDK C>T	16	31123548	31123548	C	T	BCKDK	c.1201C>T	NM_005881.4	NP_005872.2:p.(Arg401Cys)	NC_000016.9:g.31123548C>T	VUS	1 lab	112ba9cec5
17:41246112 BRCA1 T>C	17	41246112	41246112	T	C	BRCA1	c.1436A>G	NM_007294.3	NP_009225.1:p.(Glu479Gly)	NC_000017.10:g.41246112T>C	(Likely) benign	1 lab	cd538ba987
16:31004778 STX1B G>A	16	31004778	31004778	G	A	STX1B	c.565C>T	NM_052874.5	NP_443106.1:p.(Gln189Ter)	NC_000016.9:g.31004778G>A	(Likely) pathogenic	1 lab	cd542a7cf5
2:179393551 TTN C>T	2	179393551	179393551	C	T	TTN	c.106927G>A	NM_001267550.2	NP_001254479.2:p.(Val35643Ile)	NC_000002.11:g.179393551C>T	(Likely) benign	1 lab	cd567d9e6e
2:170366769 KLHL41 C>T	2	170366769	170366769	C	T	KLHL41	c.481C>T	NM_006063.2	NP_006054.2:p.(Arg161Cys)	NC_000002.11:g.170366769C>T	VUS	1 lab	cd590ec60b
12:6127919 VWF T>G	12	6127919	6127919	T	G	VWF	c.4665A>C	NM_000552.3	NP_000543.2:p.(Ala1555=)	NC_000012.11:g.6127919T>G	(Likely) benign	1 lab	cd5af190ad
9:138656902 KCNT1 T>G	9	138656902	138656902	T	G	KCNT1	c.1061T>G	NM_020822.2	NP_065873.2:p.(Met354Arg)	NC_000009.11:g.138656902T>G	(Likely) pathogenic	1 lab	cd5bef9aeb
5:79951030 MSH3 G>A	5	79951030	79951030	G	A	MSH3	c.237+247G>A	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.79951030G>A	(Likely) benign	1 lab	cd5c4e2c40
22:32179972 DEPDC5 G>A	22	32179972	32179972	G	A	DEPDC5	c.562+1G>A	NM_001242896.1	NP_001229825.1:p.?	NC_000022.10:g.32179972G>A	(Likely) pathogenic	1 lab	cd5ce0be7a
5:127670461 FBN2 C>A	5	127670461	127670461	C	A	FBN2	c.4049G>T	NM_001999.4	NP_001990.2:p.(Cys1350Phe)	NC_000005.9:g.127670461C>A	VUS	1 lab	cd5da76e3b
2:168107009 XIRP2 C>G	2	168107009	168107009	C	G	XIRP2	c.9107C>G	NM_152381.5	NP_689594.4:p.(Ser3036Cys)	NC_000002.11:g.168107009C>G	(Likely) benign	1 lab	cd6918e04f
17:76130947 TMC8 G>T	17	76130947	76130947	G	T	TMC8	c.988-4G>T	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76130947G>T	(Likely) benign	1 lab	cd6db11cb2
7:128645198 TNPO3 T>A	7	128645198	128645198	T	A	TNPO3	c.568A>T	NM_012470.3	NP_036602.1:p.(Lys190Ter)	NC_000007.13:g.128645198T>A	(Likely) pathogenic	1 lab	cd6f0bd0fd
2:74594488 DCTN1 G>C	2	74594488	74594488	G	C	DCTN1	c.2244C>G	NM_004082.4	NP_004073.2:p.(Asp748Glu)	NC_000002.11:g.74594488G>C	VUS	1 lab	cd6f5ba3ab
8:42286316 SLC20A2 G>A	8	42286316	42286316	G	A	SLC20A2	c.1754C>T	NM_006749.4	NP_006740.1:p.(Ala585Val)	NC_000008.10:g.42286316G>A	(Likely) pathogenic	1 lab	cd70fed78a
9:131388869 SPTAN1 G>A	9	131388869	131388869	G	A	SPTAN1	c.6479G>A	NM_001130438.2	NP_001123910.1:p.(Arg2160His)	NC_000009.11:g.131388869G>A	VUS	1 lab	cd713f4bb4
2:179560127 TTN C>T	2	179560127	179560127	C	T	TTN	c.31218G>A	NM_001267550.2	NP_001254479.2:p.(Glu10406=)	NC_000002.11:g.179560127C>T	(Likely) benign	1 lab	cd7159154d
18:45371712 SMAD2 G>A	18	45371712	45371712	G	A	SMAD2	c.1279C>T	NM_005901.6	NP_005892.1:p.(Arg427Ter)	NC_000018.9:g.45371712G>A	VUS	1 lab	11312c4c26
5:112174407 APC GA>G	5	112174407	112174409	GA	G	APC	c.3118del	NM_000038.5	NP_000029.2:p.(Arg1040GlyfsTer16)	NC_000005.9:g.112174409del	(Likely) pathogenic	1 lab	cd74901471
19:50910658 POLD1 C>T	19	50910658	50910658	C	T	POLD1	c.1761C>T	NM_002691.4	NP_002682.2:p.(Ile587=)	NC_000019.9:g.50910658C>T	(Likely) benign	1 lab	cd74d37aa5
2:167141036 SCN9A C>T	2	167141036	167141036	C	T	SCN9A	c.1901G>A	NM_002977.3	NP_002968.1:p.(Arg634His)	NC_000002.11:g.167141036C>T	(Likely) benign	1 lab	cd76fc288a
1:149761831 FCGR1A G>A	1	149761831	149761831	G	A	FCGR1A	c.781G>A	NM_000566.4	NP_000557.1:p.(Glu261Lys)	NC_000001.10:g.149761831G>A	VUS	1 lab	11392caba6
8:10470130 RP1L1 C>T	8	10470130	10470130	C	T	RP1L1	c.1478G>A	NM_178857.6	NP_849188.4:p.(Arg493Gln)	NC_000008.10:g.10470130C>T	(Likely) benign	1 lab	cd778f474b
1:26795537 DHDDS G>A	1	26795537	26795537	G	A	DHDDS	c.920G>A	NM_024887.4	NP_079163.2:p.(Arg307Gln)	NC_000001.10:g.26795537G>A	VUS	1 lab	113eaeca21
17:1554162 PRPF8 G>T	17	1554162	1554162	G	T	PRPF8	c.6942C>A	NM_006445.3	NP_006436.3:p.(Phe2314Leu)	NC_000017.10:g.1554162G>T	VUS	1 lab	cd7e0e8e54
2:48025900 MSH6 G>A	2	48025900	48025900	G	A	MSH6	c.778G>A	NM_000179.2	NP_000170.1:p.(Gly260Ser)	NC_000002.11:g.48025900G>A	VUS	1 lab	cd7ec50316
14:55369170 GCH1 A>C	14	55369170	55369170	A	C	GCH1	c.212T>G	NM_000161.2	NP_000152.1:p.(Leu71Arg)	NC_000014.8:g.55369170A>C	VUS	1 lab	cd7f210850
11:17632306 OTOG C>T	11	17632306	17632306	C	T	OTOG				NC_000011.9:g.17632306C>T	(Likely) benign	1 lab	cd7f2bc9d0
2:86478869 REEP1 A>C	2	86478869	86478869	A	C	REEP1	c.417+211T>G	NM_022912.2	NP_075063.1:p.?	NC_000002.11:g.86478869A>C	(Likely) benign	1 lab	cd81ccad2d
4:83347735 HNRNPDL T>C	4	83347735	83347735	T	C	HNRNPDL	c.1073A>G	NM_031372.4	NP_112740.1:p.(Tyr358Cys)	NC_000004.11:g.83347735T>C	VUS	1 lab	cd84c4af38
1:33276363 YARS1 G>A	1	33276363	33276363	G	A	YARS1	c.209C>T	NM_003680.3	NP_003671.1:p.(Thr70Ile)	NC_000001.10:g.33276363G>A	VUS	1 lab	cd84fd1474
9:13158087 MPDZ G>A	9	13158087	13158087	G	A	MPDZ	c.3382C>T	NM_001378778.1	NP_001365707.1:p.(Arg1128Ter)	NC_000009.11:g.13158087G>A	(Likely) pathogenic	1 lab	cd8b4c0353
1:215990519 USH2A CCAAT>C	1	215990519	215990527	CCAAT	C	USH2A	c.9386_9389del	NM_206933.2	NP_996816.2:p.(Asp3129GlyfsTer30)	NC_000001.10:g.215990524_215990527del	(Likely) pathogenic	1 lab	cd8bc95393
1:228479680 OBSCN G>A	1	228479680	228479680	G	A	OBSCN	c.11708G>A	NM_001386125.1	NP_001373054.1:p.(Ser3903Asn)	NC_000001.10:g.228479680G>A	VUS	1 lab	cd8d65dd1c
2:149226912 MBD5 C>G	2	149226912	149226912	C	G	MBD5	c.1400C>G	NM_001378120.1	NP_001365049.1:p.(Ser467Ter)	NC_000002.11:g.149226912C>G	(Likely) pathogenic	1 lab	cd9108c6e9
6:2893775 SERPINB9 T>A	6	2893775	2893775	T	A	SERPINB9	c.437A>T	NM_004155.6	NP_004146.1:p.(Glu146Val)	NC_000006.11:g.2893775T>A	VUS	1 lab	16da4933db
14:65251051 SPTB G>A	14	65251051	65251051	G	A	SPTB	c.3916C>T	NM_001355436.2	NP_001342365.1:p.(Arg1306Ter)	NC_000014.8:g.65251051G>A	(Likely) pathogenic	1 lab	1438c1c284
1:167870999 ADCY10 T>G	1	167870999	167870999	T	G	ADCY10	c.337A>C	NM_018417.6	NP_060887.2:p.(Lys113Gln)	NC_000001.10:g.167870999T>G	VUS	1 lab	cd9f31b8d4
1:155207235 GBA A>G	1	155207235	155207235	A	G	GBA				NC_000001.10:g.155207235A>G	(Likely) pathogenic	1 lab	cda09bef85
X:107821540 COL4A5 GC>G	X	107821540	107821543	GC	G	COL4A5	c.710del	NM_033380.2	NP_203699.1:p.(Pro237HisfsTer17)	NC_000023.10:g.107821543del	(Likely) pathogenic	1 lab	cda29ed331
19:10475652 TYK2 C>A	19	10475652	10475652	C	A	TYK2	c.1084G>T	NM_003331.4	NP_003322.3:p.(Val362Phe)	NC_000019.9:g.10475652C>A	(Likely) benign	1 lab	cda33248ed
22:38122198 TRIOBP T>A	22	38122198	38122198	T	A	TRIOBP	c.3635T>A	NM_001039141.2	NP_001034230.1:p.(Leu1212Gln)	NC_000022.10:g.38122198T>A	(Likely) benign	1 lab	cda37f51b2
11:118366990 KMT2A C>T	11	118366990	118366990	C	T	KMT2A	c.5572C>T	NM_001197104.2	NP_001184033.1:p.(Arg1858Ter)	NC_000011.9:g.118366990C>T	(Likely) pathogenic	1 lab	cda53fab61
13:32968921 BRCA2 A>G	13	32968921	32968921	A	G	BRCA2	c.9352A>G	NM_000059.3	NP_000050.2:p.(Met3118Val)	NC_000013.10:g.32968921A>G	(Likely) benign	1 lab	cda6a546f7
2:179515984 TTN A>G	2	179515984	179515984	A	G	TTN	c.39611T>C	NM_001267550.2	NP_001254479.2:p.(Val13204Ala)	NC_000002.11:g.179515984A>G	(Likely) benign	1 lab	cda8e4f641
16:49823411 ZNF423 G>A	16	49823411	49823411	G	A	ZNF423	c.63C>T	NM_015069.4	NP_055884.2:p.(Ser21=)	NC_000016.9:g.49823411G>A	(Likely) benign	1 lab	1438c9fea4
15:99472868 IGF1R T>G	15	99472868	99472868	T	G	IGF1R	c.2864T>G	NM_000875.5	NP_000866.1:p.(Leu955Arg)	NC_000015.9:g.99472868T>G	VUS	1 lab	cdab6b4ee0
9:136314952 ADAMTS13 C>T	9	136314952	136314952	C	T	ADAMTS13	c.2910C>T	NM_139025.4	NP_620594.1:p.(Val970=)	NC_000009.11:g.136314952C>T	(Likely) benign	1 lab	cdae74a056
5:35867540 IL7R C>A	5	35867540	35867540	C	A	IL7R	c.354C>A	NM_002185.5	NP_002176.2:p.(Cys118Ter)	NC_000005.9:g.35867540C>A	(Likely) pathogenic	1 lab	cdb390bce4
2:73717365 MISSING C>G	2	73717365	73717365	C	G	MISSING				NC_000002.11:g.73717365C>G	VUS	1 lab	cdb7a39bce
2:179413140 TTN A>T	2	179413140	179413140	A	T	TTN	c.93213T>A	NM_001267550.2	NP_001254479.2:p.(Thr31071=)	NC_000002.11:g.179413140A>T	(Likely) benign	1 lab	cdbb249ba4
12:57962782 KIF5A G>A	12	57962782	57962782	G	A	KIF5A	c.751G>A	NM_004984.4	NP_004975.2:p.(Glu251Lys)	NC_000012.11:g.57962782G>A	(Likely) pathogenic	1 lab	cdbc0c7e66
5:112175069 APC C>T	5	112175069	112175069	C	T	APC	c.3778C>T	NM_000038.6	NP_000029.2:p.(Gln1260Ter)	NC_000005.9:g.112175069C>T	(Likely) pathogenic	1 lab	cdbd6a1c35
2:204801604 ICOS T>G	2	204801604	204801604	T	G	ICOS	c.58+9T>G	NM_012092.3	NP_036224.1:p.?	NC_000002.11:g.204801604T>G	(Likely) benign	1 lab	143faef29f
10:17032361 CUBN T>TG	10	17032361	17032362	T	TG	CUBN	c.4321dup	NM_001081.4	NP_001072.2:p.(His1441ProfsTer7)	NC_000010.10:g.17032362dup	(Likely) pathogenic	1 lab	cdc2880c0b
11:108204668 ATM T>C	11	108204668	108204668	T	C	ATM	c.7983T>C	NM_000051.3	NP_000042.3:p.(Asp2661=)	NC_000011.9:g.108204668T>C	(Likely) benign	1 lab	cdc4a6f899
16:23641351 PALB2 T>G	16	23641351	23641351	T	G	PALB2	c.2124A>C	NM_024675.4	NP_078951.2:p.(Leu708Phe)	NC_000016.9:g.23641351T>G	(Likely) benign	1 lab	cdc64fb440
13:32914163 BRCA2 G>A	13	32914163	32914163	G	A	BRCA2	c.5671G>A	NM_000059.3	NP_000050.2:p.(Ala1891Thr)	NC_000013.10:g.32914163G>A	(Likely) benign	1 lab	cdc73ff50a
5:90086592 ADGRV1 T>A	5	90086592	90086592	T	A	ADGRV1	c.14044-98T>A	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90086592T>A	(Likely) benign	1 lab	1445f06410
1:216073510 USH2A G>A	1	216073510	216073510	G	A	USH2A	c.7501C>T	NM_206933.2	NP_996816.2:p.(Gln2501Ter)	NC_000001.10:g.216073510G>A	(Likely) pathogenic	1 lab	cdcc698684
3:49160649 LAMB2 G>T	3	49160649	49160649	G	T	LAMB2	c.4140C>A	NM_002292.3	NP_002283.3:p.(Asn1380Lys)	NC_000003.11:g.49160649G>T	VUS	1 lab	cdcdce5492
1:94461749 ABCA4 C>T	1	94461749	94461749	C	T	ABCA4	c.6732G>A	NM_000350.2	NP_000341.2:p.(Val2244=)	NC_000001.10:g.94461749C>T	(Likely) benign	1 lab	cdd097035a
2:152531077 NEB A>G	2	152531077	152531077	A	G	NEB	c.3901T>C	NM_001271208.2	NP_001258137.2:p.(Tyr1301His)	NC_000002.11:g.152531077A>G	(Likely) benign	1 lab	1147dfba14
1:19553881 EMC1 C>T	1	19553881	19553881	C	T	EMC1	c.2128G>A	NM_015047.3	NP_055862.1:p.(Val710Met)	NC_000001.10:g.19553881C>T	VUS	1 lab	2001a1747f
18:45375053 SMAD2 G>A	18	45375053	45375053	G	A	SMAD2	c.790C>T	NM_005901.6	NP_005892.1:p.(Gln264Ter)	NC_000018.9:g.45375053G>A	VUS	1 lab	cdd4df979b
9:134073007 NUP214 G>GC	9	134073007	134073014	G	GC	NUP214	c.4133dup	NM_005085.4	NP_005076.3:p.(Val1379GlyfsTer60)	NC_000009.11:g.134073014dup	(Likely) pathogenic	1 lab	114a257bec
16:72130880 DHX38 T>A	16	72130880	72130880	T	A	DHX38	c.483T>A	NM_014003.3	NP_054722.2:p.(Asp161Glu)	NC_000016.9:g.72130880T>A	VUS	1 lab	cdd7ebfcf4
2:179469647 TTN A>G	2	179469647	179469647	A	G	TTN	c.54191-22T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179469647A>G	(Likely) benign	1 lab	cdd97ad778
3:52486211 TNNC1 G>A	3	52486211	52486211	G	A	TNNC1	c.113C>T	NM_003280.3	NP_003271.1:p.(Thr38Ile)	NC_000003.11:g.52486211G>A	VUS	1 lab	cdda236022
9:98248027 PTCH1 A>G	9	98248027	98248027	A	G	PTCH1				NC_000009.11:g.98248027A>G	(Likely) pathogenic	1 lab	cde5134f08
1:245851740 KIF26B C>T	1	245851740	245851740	C	T	KIF26B	c.5455C>T	NM_018012.4	NP_060482.2:p.(Arg1819Trp)	NC_000001.10:g.245851740C>T	VUS	1 lab	114bd1cc42
7:91722418 AKAP9 G>A	7	91722418	91722418	G	A	AKAP9	c.9366G>A	NM_005751.4	NP_005742.4:p.(Leu3122=)	NC_000007.13:g.91722418G>A	(Likely) benign	1 lab	cdec21b384
3:38908820 SCN11A G>A	3	38908820	38908820	G	A	SCN11A	c.3943C>T	NM_001349253.2	NP_001336182.1:p.(Gln1315Ter)	NC_000003.11:g.38908820G>A	VUS	1 lab	cdecf39842
2:48032087 MSH6 C>G	2	48032087	48032087	C	G	MSH6	c.3477C>G	NM_000179.2	NP_000170.1:p.(Tyr1159Ter)	NC_000002.11:g.48032087C>G	(Likely) pathogenic	1 lab	cded23bc3a
6:80235004 LCA5 G>A	6	80235004	80235004	G	A	LCA5	c.-297-18C>T	NM_181714.3	NP_859065.2:p.?	NC_000006.11:g.80235004G>A	(Likely) benign	1 lab	ce12d8ee51
5:112163631 APC G>A	5	112163631	112163631	G	A	APC	c.1554G>A	NM_000038.6	NP_000029.2:p.(Thr518=)	NC_000005.9:g.112163631G>A	(Likely) benign	1 lab	cdf201e50b
6:110429852 WASF1 A>G	6	110429852	110429852	A	G	WASF1	c.301T>C	NM_003931.3	NP_003922.1:p.(Phe101Leu)	NC_000006.11:g.110429852A>G	VUS	1 lab	cdf2664de0
18:52921925 TCF4 G>A	18	52921925	52921925	G	A	TCF4	c.1153C>T	NM_001083962.1	NP_001077431.1:p.(Arg385Ter)	NC_000018.9:g.52921925G>A	(Likely) pathogenic	1 lab	cdf4035a5c
3:48613115 COL7A1 C>T	3	48613115	48613115	C	T	COL7A1	c.5923G>A	NM_000094.4	NP_000085.1:p.(Glu1975Lys)	NC_000003.11:g.48613115C>T	VUS	1 lab	1152676dab
1:2235503 SKI A>G	1	2235503	2235503	A	G	SKI	c.1436A>G	NM_003036.3	NP_003027.1:p.(Asp479Gly)	NC_000001.10:g.2235503A>G	(Likely) benign	1 lab	cdf70d9520
9:98232132 PTCH1 C>A	9	98232132	98232132	C	A	PTCH1	c.1810G>T	NM_000264.4	NP_000255.2:p.(Glu604Ter)	NC_000009.11:g.98232132C>A	(Likely) pathogenic	1 lab	cdf8a24fc5
7:94053756 COL1A2 G>T	7	94053756	94053756	G	T	COL1A2	c.2673+1G>T	NM_000089.4	NP_000080.2:p.?	NC_000007.13:g.94053756G>T	(Likely) pathogenic	1 lab	1153bad88a
12:56091617 ITGA7 A>G	12	56091617	56091617	A	G	ITGA7	c.1294-11T>C	NM_001144996.2	NP_001138468.1:p.?	NC_000012.11:g.56091617A>G	(Likely) benign	1 lab	1153fbb8ab
X:122459948 GRIA3 G>A	X	122459948	122459948	G	A	GRIA3	c.580G>A	NM_000828.5	NP_000819.4:p.(Gly194Arg)	NC_000023.10:g.122459948G>A	VUS	1 lab	11553c79e4
3:4714968 ITPR1 C>T	3	4714968	4714968	C	T	ITPR1	c.2308C>T	NM_002222.5	NP_002213.5:p.(Leu770Phe)	NC_000003.11:g.4714968C>T	VUS	1 lab	ce1075ad33
2:170088351 LRP2 G>A	2	170088351	170088351	G	A	LRP2	c.5100C>T	NM_004525.2	NP_004516.2:p.(Ser1700=)	NC_000002.11:g.170088351G>A	(Likely) benign	1 lab	ce12aa5dab
X:18947408 PHKA2 C>T	X	18947408	18947408	C	T	PHKA2	c.1262G>A	NM_000292.3	NP_000283.1:p.(Gly421Asp)	NC_000023.10:g.18947408C>T	VUS	1 lab	ce12f5a5ab
17:41223001 BRCA1 C>A	17	41223001	41223001	C	A	BRCA1	c.4930G>T	NM_007294.4	NP_009225.1:p.(Glu1644Ter)	NC_000017.10:g.41223001C>A	(Likely) pathogenic	1 lab	1159969e08
12:56080148 ITGA7 T>C	12	56080148	56080148	T	C	ITGA7	c.3184-1076A>G	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56080148T>C	(Likely) benign	1 lab	144a674ba8
21:43816197 TMPRSS3 C>T	21	43816197	43816197	C	T	TMPRSS3				NC_000021.8:g.43816197C>T	(Likely) benign	1 lab	ce189c8378
6:32006886 CYP21A2 G>A	6	32006886	32006886	G	A	CYP21A2				NC_000006.11:g.32006886G>A	(Likely) benign	1 lab	ce23ef7bc2
3:87294985 CHMP2B C>T	3	87294985	87294985	C	T	CHMP2B	c.248C>T	NM_014043.4	NP_054762.2:p.(Thr83Ile)	NC_000003.11:g.87294985C>T	VUS	1 lab	144baac485
5:112111318 APC A>G	5	112111318	112111318	A	G	APC	c.423-8A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112111318A>G	(Likely) pathogenic	1 lab	ce29c85656
2:88367399 SMYD1 ATG>A	2	88367399	88367401	ATG	A	SMYD1	c.17_18del	NM_198274.4	NP_938015.1:p.(Met6ArgfsTer9)	NC_000002.11:g.88367400_88367401del	VUS	1 lab	ce2a59955e
5:74801844 CERT1 C>T	5	74801844	74801844	C	T	CERT1	c.194G>A	NM_001379029.1	NP_001365958.1:p.(Cys65Tyr)	NC_000005.9:g.74801844C>T	VUS	1 lab	ce2bd27fbd
X:31152264 DMD C>T	X	31152264	31152264	C	T	DMD	c.10969G>A	NM_004006.3	NP_003997.2:p.(Glu3657Lys)	NC_000023.10:g.31152264C>T	VUS	1 lab	ce2ec4c7de
20:470455 CSNK2A1 G>C	20	470455	470455	G	C	CSNK2A1	c.692C>G	NM_177559.2	NP_808227.1:p.(Pro231Arg)	NC_000020.10:g.470455G>C	(Likely) pathogenic	1 lab	ce2eda3b3f
2:29294629 PCARE C>T	2	29294629	29294629	C	T	PCARE	c.2499G>A	NM_001029883.3	NP_001025054.1:p.(Pro833=)	NC_000002.11:g.29294629C>T	(Likely) benign	1 lab	ce3241f1c4
12:8975256 A2ML1 T>A	12	8975256	8975256	T	A	A2ML1	c.9T>A	NM_144670.4	NP_653271.2:p.(Ala3=)	NC_000012.11:g.8975256T>A	(Likely) benign	1 lab	ce32453b8d
X:153133285 L1CAM G>A	X	153133285	153133285	G	A	L1CAM	c.1909C>T	NM_000425.3	NP_000416.1:p.(Pro637Ser)	NC_000023.10:g.153133285G>A	VUS	1 lab	ce339a3540
4:155510666 FGA G>A	4	155510666	155510666	G	A	FGA	c.103C>T	NM_000508.3	NP_000499.1:p.(Arg35Cys)	NC_000004.11:g.155510666G>A	(Likely) pathogenic	1 lab	ce346de0dd
16:23641134 PALB2 T>C	16	23641134	23641134	T	C	PALB2	c.2341A>G	NM_024675.3	NP_078951.2:p.(Ser781Gly)	NC_000016.9:g.23641134T>C	(Likely) benign	1 lab	ce34e03492
5:112043282 APC C>CG	5	112043282	112043289	C	CG	APC	c.-126dup	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043289dup	(Likely) benign	1 lab	115f91f62e
2:99013274 CNGA3 C>A	2	99013274	99013274	C	A	CNGA3	c.1641C>A	NM_001298.2	NP_001289.1:p.(Phe547Leu)	NC_000002.11:g.99013274C>A	(Likely) pathogenic	1 lab	ce410f1c93
17:29663752 NF1 C>T	17	29663752	29663752	C	T	NF1	c.6247C>T	NM_001042492.2	NP_001035957.1:p.(Arg2083Cys)	NC_000017.10:g.29663752C>T	VUS	1 lab	ce41c86a21
7:81593666 CACNA2D1 A>G	7	81593666	81593666	A	G	CACNA2D1	c.2584T>C	NM_000722.2	NP_000713.2:p.(Phe862Leu)	NC_000007.13:g.81593666A>G	VUS	1 lab	ce42996e25
11:36597544 RAG1 G>A	11	36597544	36597544	G	A	RAG1	c.2690G>A	NM_000448.3	NP_000439.2:p.(Arg897Gln)	NC_000011.9:g.36597544G>A	(Likely) pathogenic	1 lab	ce45e11715
9:135211721 SETX T>A	9	135211721	135211721	T	A	SETX	c.680A>T	NM_015046.7	NP_055861.3:p.(His227Leu)	NC_000009.11:g.135211721T>A	VUS	1 lab	ce46934d8e
19:39006855 RYR1 C>T	19	39006855	39006855	C	T	RYR1	c.9683C>T	NM_000540.3	NP_000531.2:p.(Ala3228Val)	NC_000019.9:g.39006855C>T	VUS	1 lab	ce4861d6b8
5:14741921 ANKH A>C	5	14741921	14741921	A	C	ANKH	c.1011+15T>G	NM_054027.4	NP_473368.1:p.?	NC_000005.9:g.14741921A>C	(Likely) benign	1 lab	ce4cfaf433
15:44914925 SPG11 C>T	15	44914925	44914925	C	T	SPG11				NC_000015.9:g.44914925C>T	(Likely) pathogenic	1 lab	cea0b15971
19:36219046 KMT2B C>A	19	36219046	36219046	C	A	KMT2B	c.4545C>A	NM_014727.2	NP_055542.1:p.(Tyr1515Ter)	NC_000019.9:g.36219046C>A	(Likely) pathogenic	1 lab	ce4e98815c
5:169141139 DOCK2 T>C	5	169141139	169141139	T	C	DOCK2	c.1767T>C	NM_004946.3	NP_004937.1:p.(Val589=)	NC_000005.9:g.169141139T>C	(Likely) benign	1 lab	144d1afd8f
X:38170043 RPGR A>G	X	38170043	38170043	A	G	RPGR	c.620-17T>C	NM_000328.3	NP_000319.1:p.?	NC_000023.10:g.38170043A>G	(Likely) benign	1 lab	ce4ffac023
8:68200274 ARFGEF1 C>G	8	68200274	68200274	C	G	ARFGEF1	c.943G>C	NM_006421.5	NP_006412.2:p.(Asp315His)	NC_000008.10:g.68200274C>G	VUS	1 lab	11641f2d90
2:179537448 TTN GT>G	2	179537448	179537452	GT	G	TTN	c.34787-19del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179537452del	(Likely) benign	1 lab	ce527c2a09
19:7706954 STXBP2 G>A	19	7706954	7706954	G	A	STXBP2	c.646G>A	NM_001272034.2	NP_001258963.1:p.(Val216Ile)	NC_000019.9:g.7706954G>A	(Likely) benign	1 lab	352dbb4021
2:179433590 TTN C>T	2	179433590	179433590	C	T	TTN	c.77269G>A	NM_001267550.2	NP_001254479.2:p.(Val25757Ile)	NC_000002.11:g.179433590C>T	(Likely) benign	1 lab	ce59fb7c40
10:102748905 TWNK G>A	10	102748905	102748905	G	A	TWNK	c.938G>A	NM_021830.4	NP_068602.2:p.(Arg313Gln)	NC_000010.10:g.102748905G>A	VUS	1 lab	ce5cb0c0de
X:85233861 CHM C>T	X	85233861	85233861	C	T	CHM	c.224G>A	NM_000390.2	NP_000381.1:p.(Trp75Ter)	NC_000023.10:g.85233861C>T	(Likely) pathogenic	1 lab	ce5e5329fe
1:111674130 DRAM2 A>G	1	111674130	111674130	A	G	DRAM2	c.47T>C	NM_178454.4	NP_848549.3:p.(Val16Ala)	NC_000001.10:g.111674130A>G	VUS	1 lab	ce5f06af17
3:38739083 SCN10A G>A	3	38739083	38739083	G	A	SCN10A	c.5628C>T	NM_006514.4	NP_006505.4:p.(Thr1876=)	NC_000003.11:g.38739083G>A	(Likely) benign	1 lab	ce631e0751
1:74716357 TNNI3K C>T	1	74716357	74716357	C	T	TNNI3K	c.237C>T	NM_015978.2	NP_057062.1:p.(Gly79=)	NC_000001.10:g.74716357C>T	VUS	1 lab	ce653ea6a9
2:47635617 MSH2 C>T	2	47635617	47635617	C	T	MSH2	c.289C>T	NM_000251.3	NP_000242.1:p.(Gln97Ter)	NC_000002.11:g.47635617C>T	(Likely) pathogenic	1 lab	ce65dcbe88
X:70328450 IL2RG G>A	X	70328450	70328450	G	A	IL2RG	c.853C>T	NM_000206.2	NP_000197.1:p.(Arg285Trp)	NC_000023.10:g.70328450G>A	VUS	1 lab	ce69a99f69
19:42492252 ATP1A3 C>G	19	42492252	42492252	C	G	ATP1A3	c.193G>C	NM_152296.4	NP_689509.1:p.(Asp65His)	NC_000019.9:g.42492252C>G	VUS	1 lab	ce69bac8d5
17:41226463 BRCA1 T>G	17	41226463	41226463	T	G	BRCA1	c.4560A>C	NM_007294.4	NP_009225.1:p.(Arg1520Ser)	NC_000017.10:g.41226463T>G	(Likely) benign	1 lab	ce6a1ba164
3:37089175 MLH1 G>A	3	37089175	37089175	G	A	MLH1	c.1896+1G>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37089175G>A	(Likely) pathogenic	1 lab	ce6cbaf531
6:152446426 SYNE1 G>C	6	152446426	152446426	G	C	SYNE1	c.26154-2615C>G	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152446426G>C	VUS	1 lab	ce6dbafeec
4:1801287 FGFR3 C>T	4	1801287	1801287	C	T	FGFR3	c.379+37C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1801287C>T	(Likely) benign	1 lab	ce702bf493
20:10644610 JAG1 C>G	20	10644610	10644610	C	G	JAG1	c.439+1G>C	NM_000214.3	NP_000205.1:p.?	NC_000020.10:g.10644610C>G	(Likely) pathogenic	1 lab	ce72d2e887
15:63351687 TPM1 A>G	15	63351687	63351687	A	G	TPM1	c.375-75A>G	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63351687A>G	(Likely) benign	1 lab	ce745940a7
10:72191970 NODAL C>G	10	72191970	72191970	C	G	NODAL	c.*722G>C	NM_018055.4	NP_060525.3:p.?	NC_000010.10:g.72191970C>G	(Likely) benign	1 lab	ce74c57981
X:107824052 COL4A5 C>CACTT	X	107824052	107824053	C	CACTT	COL4A5	c.891+84_891+85insACTT	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107824052_107824053insACTT	(Likely) benign	1 lab	ce74cd951a
3:49723750 MST1 A>G	3	49723750	49723750	A	G	MST1	c.1012T>C	NM_020998.3	NP_066278.3:p.(Cys338Arg)	NC_000003.11:g.49723750A>G	(Likely) benign	1 lab	ce772b7954
11:47365186 MYBPC3 C>T	11	47365186	47365186	C	T	MYBPC3	c.1091-11G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47365186C>T	(Likely) benign	1 lab	ce7833612c
9:95236999 MISSING C>A	9	95236999	95236999	C	A	MISSING				NC_000009.11:g.95236999C>A	VUS	1 lab	ce78e32590
3:168833964 MECOM C>A	3	168833964	168833964	C	A	MECOM	c.1696G>T	NM_004991.4	NP_004982.2:p.(Glu566Ter)	NC_000003.11:g.168833964C>A	(Likely) pathogenic	1 lab	ce7fd9e178
3:58109173 FLNB AG>A	3	58109173	58109174	AG	A	FLNB	c.3481del	NM_001457.4	NP_001448.2:p.(Ala1161ArgfsTer32)	NC_000003.11:g.58109174del	(Likely) pathogenic	1 lab	ce80cb7315
12:114823246 TBX5 T>C	12	114823246	114823246	T	C	TBX5	c.755+35A>G	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114823246T>C	(Likely) benign	1 lab	ce82e0afcb
17:7370119 ZBTB4 A>G	17	7370119	7370119	A	G	ZBTB4	c.2T>C	NM_001128833.2	NP_001122305.1:p.(Met1?)	NC_000017.10:g.7370119A>G	VUS	1 lab	ce83481d1f
17:33430620 RAD51D G>A	17	33430620	33430620	G	A	RAD51D	c.577-57C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430620G>A	(Likely) benign	1 lab	ce85e322a4
11:111896324 DLAT C>T	11	111896324	111896324	C	T	DLAT	c.128C>T	NM_001931.5	NP_001922.2:p.(Ala43Val)	NC_000011.9:g.111896324C>T	(Likely) benign	1 lab	11660e9e89
12:116446822 MED13L TAGA>T	12	116446822	116446830	TAGA	T	MED13L	c.1393_1395del	NM_015335.5	NP_056150.1:p.(Ser465del)	NC_000012.11:g.116446828_116446830del	(Likely) benign	1 lab	11665012d1
11:108115564 ATM A>G	11	108115564	108115564	A	G	ATM	c.712A>G	NM_000051.3	NP_000042.3:p.(Ile238Val)	NC_000011.9:g.108115564A>G	(Likely) benign	1 lab	ce889f4404
9:27212758 TEK C>T	9	27212758	27212758	C	T	TEK	c.2740C>T	NM_000459.5	NP_000450.3:p.(Leu914Phe)	NC_000009.11:g.27212758C>T	(Likely) pathogenic	1 lab	ce892e6881
3:119666150 GSK3B G>A	3	119666150	119666150	G	A	GSK3B	c.331C>T	NM_002093.3	NP_002084.2:p.(Arg111Ter)	NC_000003.11:g.119666150G>A	VUS	1 lab	ce8b8f816c
10:31809932 ZEB1 C>T	10	31809932	31809932	C	T	ZEB1	c.1669C>T	NM_030751.5	NP_110378.3:p.(Gln557Ter)	NC_000010.10:g.31809932C>T	(Likely) pathogenic	1 lab	ce8d2aedec
8:61729051 CHD7 C>G	8	61729051	61729051	C	G	CHD7	c.2604C>G	NM_017780.4	NP_060250.2:p.(Phe868Leu)	NC_000008.10:g.61729051C>G	VUS	1 lab	ce917f0b9e
1:216270486 USH2A T>C	1	216270486	216270486	T	C	USH2A	c.4697A>G	NM_206933.2	NP_996816.2:p.(Gln1566Arg)	NC_000001.10:g.216270486T>C	VUS	1 lab	ce94f06478
2:179453292 TTN T>C	2	179453292	179453292	T	C	TTN				NC_000002.11:g.179453292T>C	(Likely) benign	1 lab	ce98189f66
22:21340139 LZTR1 G>A	22	21340139	21340139	G	A	LZTR1	c.273G>A	NM_006767.3	NP_006758.2:p.(Met91Ile)	NC_000022.10:g.21340139G>A	VUS	1 lab	ce99a39081
2:145155867 ZEB2 C>A	2	145155867	145155867	C	A	ZEB2	c.2886+1G>T	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145155867C>A	(Likely) pathogenic	1 lab	ce9c531723
12:6131937 VWF A>C	12	6131937	6131937	A	C	VWF	c.3507T>G	NM_000552.3	NP_000543.2:p.(Cys1169Trp)	NC_000012.11:g.6131937A>C	(Likely) pathogenic	1 lab	cea3bf19ef
5:149497421 PDGFRB C>T	5	149497421	149497421	C	T	PDGFRB	c.2905-8G>A	NM_002609.3	NP_002600.1:p.?	NC_000005.9:g.149497421C>T	(Likely) pathogenic	1 lab	cea57bf9c6
16:20359633 UMOD C>T	16	20359633	20359633	C	T	UMOD	c.885G>A	NM_003361.2	NP_003352.2:p.(Gly295=)	NC_000016.9:g.20359633C>T	(Likely) benign	1 lab	cea63ad8f8
11:108190625 ATM T>C	11	108190625	108190625	T	C	ATM	c.6348-56T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108190625T>C	(Likely) benign	1 lab	cea78fa111
19:38924362 RYR1 T>C	19	38924362	38924362	T	C	RYR1	c.-108T>C	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38924362T>C	(Likely) benign	1 lab	cea7a09c1a
16:68845638 CDH1 C>A	16	68845638	68845638	C	A	CDH1	c.884C>A	NM_004360.3	NP_004351.1:p.(Thr295Asn)	NC_000016.9:g.68845638C>A	VUS	1 lab	cea9cb1529
19:18896582 COMP G>C	19	18896582	18896582	G	C	COMP	c.1569C>G	NM_000095.2	NP_000086.2:p.(Asn523Lys)	NC_000019.9:g.18896582G>C	(Likely) pathogenic	1 lab	ceaac9c175
2:165996020 SCN3A C>T	2	165996020	165996020	C	T	SCN3A	c.2118G>A	NM_006922.3	NP_008853.3:p.(Val706=)	NC_000002.11:g.165996020C>T	(Likely) benign	1 lab	ceaaed2ac2
5:90281317 ADGRV1 T>A	5	90281317	90281317	T	A	ADGRV1	c.18130T>A	NM_032119.3	NP_115495.3:p.(Tyr6044Asn)	NC_000005.9:g.90281317T>A	VUS	1 lab	ceab028e8d
16:89350675 ANKRD11 TCA>T	16	89350675	89350677	TCA	T	ANKRD11	c.2273_2274del	NM_013275.6	NP_037407.4:p.(Leu758GlnfsTer23)	NC_000016.9:g.89350676_89350677del	(Likely) pathogenic	1 lab	ceabdec8e8
9:140728849 EHMT1 C>T	9	140728849	140728849	C	T	EHMT1	c.3589C>T	NM_024757.4	NP_079033.4:p.(Arg1197Trp)	NC_000009.11:g.140728849C>T	(Likely) pathogenic	1 lab	ceac1bbb5a
1:68896945 RPE65 T>G	1	68896945	68896945	T	G	RPE65	c.1338+20A>C	NM_000329.2	NP_000320.1:p.?	NC_000001.10:g.68896945T>G	(Likely) benign	1 lab	ceac45ba9c
2:227886887 COL4A4 CACCTGAAATT>C	2	227886887	227886897	CACCTGAAATT	C	COL4A4	c.4091-8_4092del	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227886888_227886897del	(Likely) pathogenic	1 lab	144f6a4d3e
15:72105748 NR2E3 C>A	15	72105748	72105748	C	A	NR2E3	c.767C>A	NM_014249.2	NP_055064.1:p.(Ala256Glu)	NC_000015.9:g.72105748C>A	(Likely) pathogenic	1 lab	cead22b46f
22:29117603 CHEK2 G>A	22	29117603	29117603	G	A	CHEK2	c.593-2130C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29117603G>A	(Likely) benign	1 lab	ceae6c8f22
16:31499954 SLC5A2 CTCATGCTGGCGG>C	16	31499954	31499976	CTCATGCTGGCGG	C	SLC5A2	c.1152_1163del	NM_003041.3	NP_003032.1:p.(Val385_Ala388del)	NC_000016.9:g.31499965_31499976del	(Likely) pathogenic	1 lab	ceaf44b51a
17:41249286 BRCA1 T>G	17	41249286	41249286	T	G	BRCA1	c.568A>C	NM_007294.3	NP_009225.1:p.(Thr190Pro)	NC_000017.10:g.41249286T>G	VUS	1 lab	ceb457a662
6:10404796 TFAP2A G>C	6	10404796	10404796	G	C	TFAP2A	c.709C>G	NM_003220.2	NP_003211.1:p.(Arg237Gly)	NC_000006.11:g.10404796G>C	(Likely) pathogenic	1 lab	ceb9c2a5ef
4:3478174 DOK7 C>T	4	3478174	3478174	C	T	DOK7	c.437C>T	NM_173660.4	NP_775931.3:p.(Pro146Leu)	NC_000004.11:g.3478174C>T	VUS	1 lab	cebb2faaa8
3:12645694 RAF1 A>G	3	12645694	12645694	A	G	RAF1				NC_000003.11:g.12645694A>G	(Likely) pathogenic	1 lab	cec4955085
2:170344326 BBS5 C>G	2	170344326	170344326	C	G	BBS5	c.219C>G	NM_152384.3	NP_689597.1:p.(Tyr73Ter)	NC_000002.11:g.170344326C>G	(Likely) pathogenic	1 lab	144f6f4a07
11:119214558 MFRP GGT>G	11	119214558	119214560	GGT	G	MFRP	c.1090_1091del	NM_031433.4	NP_113621.1:p.(Thr364GlnfsTer27)	NC_000011.9:g.119214559_119214560del	(Likely) pathogenic	1 lab	cec6d4c0e9
X:77372896 PGK1 G>A	X	77372896	77372896	G	A	PGK1	c.505G>A	NM_000291.4	NP_000282.1:p.(Ala169Thr)	NC_000023.10:g.77372896G>A	(Likely) benign	1 lab	cecb3ef6d1
10:16942759 CUBN TG>T	10	16942759	16942762	TG	T	CUBN	c.8274del	NM_001081.3	NP_001072.2:p.(Ile2759SerfsTer2)	NC_000010.10:g.16942762del	(Likely) pathogenic	1 lab	cece5277b2
X:107827724 COL4A5 G>T	X	107827724	107827724	G	T	COL4A5	c.1001G>T	NM_033380.2	NP_203699.1:p.(Gly334Val)	NC_000023.10:g.107827724G>T	(Likely) pathogenic	1 lab	ced347810e
17:79477730 ACTG1 G>A	17	79477730	79477730	G	A	ACTG1	c.1114C>T	NM_001199954.1	NP_001186883.1:p.(Arg372Cys)	NC_000017.10:g.79477730G>A	VUS	1 lab	ced3c8aad6
12:48392197 COL2A1 C>T	12	48392197	48392197	C	T	COL2A1	c.309+1G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48392197C>T	(Likely) pathogenic	1 lab	ced59e835a
3:38941568 SCN11A G>A	3	38941568	38941568	G	A	SCN11A	c.1843-4C>T	NM_014139.3	NP_054858.2:p.?	NC_000003.11:g.38941568G>A	(Likely) benign	1 lab	ced6416fd7
22:29095917 CHEK2 C>A	22	29095917	29095917	C	A	CHEK2	c.917G>T	NM_007194.3	NP_009125.1:p.(Gly306Val)	NC_000022.10:g.29095917C>A	VUS	1 lab	ced759b0e7
3:46944132 PTH1R A>G	3	46944132	46944132	A	G	PTH1R	c.1328A>G	NM_000316.3	NP_000307.1:p.(Tyr443Cys)	NC_000003.11:g.46944132A>G	VUS	1 lab	ced809b224
1:78383233 NEXN T>A	1	78383233	78383233	T	A	NEXN	c.28-18T>A	NM_144573.3	NP_653174.3:p.?	NC_000001.10:g.78383233T>A	(Likely) benign	1 lab	cedc67e6d4
18:3451965 TGIF1 C>T	18	3451965	3451965	C	T	TGIF1	c.-13C>T	NM_170695.3	NP_733796.2:p.?	NC_000018.9:g.3451965C>T	(Likely) benign	1 lab	d509531368
6:15496720 JARID2 G>A	6	15496720	15496720	G	A	JARID2	c.1264G>A	NM_004973.4	NP_004964.2:p.(Val422Met)	NC_000006.11:g.15496720G>A	VUS	1 lab	11666188d2
8:77768282 MISSING AGCTCG>A	8	77768282	77768287	AGCTCG	A	MISSING				NC_000008.10:g.77768283_77768287del	VUS	1 lab	cee2a6b604
1:11863019 MTHFR C>T	1	11863019	11863019	C	T	MTHFR	c.155G>A	NM_005957.5	NP_005948.3:p.(Arg52Gln)	NC_000001.10:g.11863019C>T	(Likely) pathogenic	1 lab	11675c8b00
2:167138150 SCN9A A>G	2	167138150	167138150	A	G	SCN9A	c.2071+39T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167138150A>G	(Likely) benign	1 lab	cee5b6e508
20:62076010 KCNQ2 A>G	20	62076010	62076010	A	G	KCNQ2	c.690+2T>C	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62076010A>G	(Likely) pathogenic	1 lab	14538b52cd
22:50523329 MLC1 C>T	22	50523329	50523329	C	T	MLC1	c.3G>A	NM_015166.3	NP_055981.1:p.(Met1?)	NC_000022.10:g.50523329C>T	(Likely) pathogenic	1 lab	ceeb03d6a4
1:236914946 ACTN2 G>T	1	236914946	236914946	G	T	ACTN2	c.1833G>T	NM_001103.3	NP_001094.1:p.(Trp611Cys)	NC_000001.10:g.236914946G>T	(Likely) benign	1 lab	ceeb6970cd
15:90192208 KIF7 G>A	15	90192208	90192208	G	A	KIF7	c.920C>T	NM_198525.2	NP_940927.2:p.(Thr307Ile)	NC_000015.9:g.90192208G>A	VUS	1 lab	ceed45fbaf
11:75501295 DGAT2 C>T	11	75501295	75501295	C	T	DGAT2	c.313C>T	NM_032564.5	NP_115953.2:p.(Leu105Phe)	NC_000011.9:g.75501295C>T	VUS	1 lab	ceefd577f4
20:30414503 MYLK2 C>T	20	30414503	30414503	C	T	MYLK2	c.1068C>T	NM_033118.3	NP_149109.1:p.(Val356=)	NC_000020.10:g.30414503C>T	(Likely) benign	1 lab	14569b7124
4:151749312 LRBA C>T	4	151749312	151749312	C	T	LRBA	c.5171+20G>A	NM_006726.4	NP_006717.2:p.?	NC_000004.11:g.151749312C>T	(Likely) benign	1 lab	cef30b7153
6:79787589 PHIP A>G	6	79787589	79787589	A	G	PHIP	c.82T>C	NM_017934.7	NP_060404.4:p.(Cys28Arg)	NC_000006.11:g.79787589A>G	VUS	1 lab	cef51c4ebb
11:76919478 MYO7A C>A	11	76919478	76919478	C	A	MYO7A	c.5860C>A	NM_000260.3	NP_000251.3:p.(Leu1954Ile)	NC_000011.9:g.76919478C>A	(Likely) benign	1 lab	cef63e7a19
7:35289851 TBX20 CTG>C	7	35289851	35289854	CTG	C	TBX20	c.128-38_128-37del	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35289853_35289854del	(Likely) benign	1 lab	cef68ecc6e
X:41379849 CASK C>A	X	41379849	41379849	C	A	CASK				NC_000023.10:g.41379849C>A	(Likely) pathogenic	1 lab	cef783c738
13:32944650 BRCA2 G>A	13	32944650	32944650	G	A	BRCA2	c.8443G>A	NM_000059.3	NP_000050.2:p.(Val2815Ile)	NC_000013.10:g.32944650G>A	VUS	1 lab	cef7fc72bc
X:114880717 PLS3 T>C	X	114880717	114880717	T	C	PLS3	c.1378-5T>C	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114880717T>C	(Likely) benign	1 lab	cef80a385f
1:156617828 BCAN C>G	1	156617828	156617828	C	G	BCAN	c.695C>G	NM_021948.4	NP_068767.3:p.(Pro232Arg)	NC_000001.10:g.156617828C>G	VUS	1 lab	cef8df2440
11:108124738 ATM A>G	11	108124738	108124738	A	G	ATM	c.2096A>G	NM_000051.3	NP_000042.3:p.(Glu699Gly)	NC_000011.9:g.108124738A>G	VUS	1 lab	cefb72bf39
3:38592569 SCN5A T>C	3	38592569	38592569	T	C	SCN5A	c.5291A>G	NM_000335.5	NP_000326.2:p.(Asn1764Ser)	NC_000003.11:g.38592569T>C	(Likely) pathogenic	1 lab	cefcd861a3
16:23632684 PALB2 A>G	16	23632684	23632684	A	G	PALB2	c.3112T>C	NM_024675.4	NP_078951.2:p.(Trp1038Arg)	NC_000016.9:g.23632684A>G	VUS	1 lab	1170635df8
18:55359108 ATP8B1 C>T	18	55359108	55359108	C	T	ATP8B1	c.1151G>A	NM_001374385.1	NP_001361314.1:p.(Arg384His)	NC_000018.9:g.55359108C>T	(Likely) pathogenic	1 lab	ceff617dec
17:29482878 NF1 G>A	17	29482878	29482878	G	A	NF1	c.61-123G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29482878G>A	(Likely) benign	1 lab	ceffc3ae38
5:226222 SDHA T>C	5	226222	226222	T	C	SDHA	c.621+60T>C	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.226222T>C	(Likely) benign	1 lab	e85a7c1479
12:57409527 TAC3 AG>A	12	57409527	57409528	AG	A	TAC3	c.54del	NM_013251.4	NP_037383.1:p.(Phe19LeufsTer46)	NC_000012.11:g.57409528del	(Likely) pathogenic	1 lab	cf00456e61
19:42485757 ATP1A3 GCAGACT>G	19	42485757	42485768	GCAGACT	G	ATP1A3	c.1328_1333del	NM_152296.4	NP_689509.1:p.(Glu443_Ser444del)	NC_000019.9:g.42485763_42485768del	VUS	1 lab	cf0586d531
3:120393829 HGD G>T	3	120393829	120393829	G	T	HGD	c.95C>A	NM_000187.4	NP_000178.2:p.(Pro32His)	NC_000003.11:g.120393829G>T	VUS	1 lab	cf0630bcec
11:46749648 F2 G>A	11	46749648	46749648	G	A	F2	c.1233G>A	NM_000506.3	NP_000497.1:p.(Pro411=)	NC_000011.9:g.46749648G>A	(Likely) benign	1 lab	cf076a0e2b
10:20568705 PLXDC2 C>T	10	20568705	20568705	C	T	PLXDC2	c.1547C>T	NM_032812.7	NP_116201.7:p.(Pro516Leu)	NC_000010.10:g.20568705C>T	VUS	1 lab	cf0eb3254e
8:94767171 TMEM67 C>T	8	94767171	94767171	C	T	TMEM67	c.29C>T	NM_153704.5	NP_714915.3:p.(Ala10Val)	NC_000008.10:g.94767171C>T	VUS	1 lab	cf11cee5bc
11:108159829 ATM C>T	11	108159829	108159829	C	T	ATM	c.4235C>T	NM_000051.3	NP_000042.3:p.(Pro1412Leu)	NC_000011.9:g.108159829C>T	VUS	1 lab	cf12b79423
8:10465522 RP1L1 G>T	8	10465522	10465522	G	T	RP1L1				NC_000008.10:g.10465522G>T	VUS	1 lab	cf14189f70
10:50681049 ERCC6 A>G	10	50681049	50681049	A	G	ERCC6	c.2735T>C	NM_000124.4	NP_000115.1:p.(Leu912Pro)	NC_000010.10:g.50681049A>G	VUS	1 lab	cf1481b656
1:43396417 SLC2A1 G>C	1	43396417	43396417	G	C	SLC2A1	c.396C>G	NM_006516.4	NP_006507.2:p.(Tyr132Ter)	NC_000001.10:g.43396417G>C	(Likely) pathogenic	1 lab	cf195c41bc
20:33585163 MYH7B G>C	20	33585163	33585163	G	C	MYH7B	c.3593G>C	NM_020884.4	NP_065935.3:p.(Arg1198Pro)	NC_000020.10:g.33585163G>C	VUS	1 lab	cf1df57fae
2:179586709 TTN A>G	2	179586709	179586709	A	G	TTN	c.22681T>C	NM_001267550.2	NP_001254479.2:p.(Tyr7561His)	NC_000002.11:g.179586709A>G	(Likely) benign	1 lab	cf2077feae
5:112128191 APC C>T	5	112128191	112128191	C	T	APC	c.694C>T	NM_000038.5	NP_000029.2:p.(Arg232Ter)	NC_000005.9:g.112128191C>T	(Likely) pathogenic	1 lab	cf20e83734
3:10188286 VHL C>T	3	10188286	10188286	C	T	VHL	c.429C>T	NM_000551.3	NP_000542.1:p.(Asp143=)	NC_000003.11:g.10188286C>T	(Likely) benign	1 lab	cf213fd0d0
11:76922946 MYO7A G>A	11	76922946	76922946	G	A	MYO7A				NC_000011.9:g.76922946G>A	(Likely) benign	1 lab	cf220c2084
7:141445343 SSBP1 A>G	7	141445343	141445343	A	G	SSBP1	c.362A>G	NM_003143.3	NP_003134.1:p.(Asp121Gly)	NC_000007.13:g.141445343A>G	VUS	1 lab	1175bb31f2
16:4849674 ROGDI G>A	16	4849674	4849674	G	A	ROGDI	c.432+13C>T	NM_024589.2	NP_078865.1:p.?	NC_000016.9:g.4849674G>A	(Likely) benign	1 lab	145da66fc0
12:32993961 PKP2 C>T	12	32993961	32993961	C	T	PKP2	c.1556+1G>A	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32993961C>T	(Likely) pathogenic	1 lab	cf2834e637
3:189507518 TP63 C>CAGAG	3	189507518	189507519	C	CAGAG	TP63	c.325-18543_325-18542insAGAG	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189507518_189507519insAGAG	(Likely) benign	1 lab	cf293854a0
2:179422291 TTN G>A	2	179422291	179422291	G	A	TTN	c.87707-9C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179422291G>A	(Likely) benign	1 lab	cf2ce7a19a
20:5948540 MCM8 T>C	20	5948540	5948540	T	C	MCM8	c.1092T>C	NM_032485.6	NP_115874.3:p.(Asn364=)	NC_000020.10:g.5948540T>C	(Likely) benign	1 lab	cf2dbd11a6
16:68853375 CDH1 G>A	16	68853375	68853375	G	A	CDH1	c.1711+47G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68853375G>A	(Likely) benign	1 lab	cf3280f80d
3:37056008 MLH1 A>T	3	37056008	37056008	A	T	MLH1	c.763A>T	NM_000249.3	NP_000240.1:p.(Lys255Ter)	NC_000003.11:g.37056008A>T	(Likely) pathogenic	1 lab	cf33a050e0
16:56920314 SLC12A3 G>A	16	56920314	56920314	G	A	SLC12A3	c.1964G>A	NM_000339.2	NP_000330.2:p.(Arg655His)	NC_000016.9:g.56920314G>A	(Likely) pathogenic	1 lab	cf34fcbe0e
17:7906057 GUCY2D A>G	17	7906057	7906057	A	G	GUCY2D	c.-10+5A>G	NM_000180.3	NP_000171.1:p.?	NC_000017.10:g.7906057A>G	(Likely) benign	1 lab	ede50765f6
3:41266584 CTNNB1 AC>A	3	41266584	41266586	AC	A	CTNNB1	c.383del	NM_001904.4	NP_001895.1:p.(Pro128HisfsTer5)	NC_000003.11:g.41266586del	(Likely) pathogenic	1 lab	1176ac936d
2:166894165 SCN1A C>CT	2	166894165	166894174	C	CT	SCN1A	c.2946+120dup	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166894174dup	(Likely) benign	1 lab	146035cf03
19:6714085 C3 T>G	19	6714085	6714085	T	G	C3	c.691A>C	NM_000064.4	NP_000055.2:p.(Ser231Arg)	NC_000019.9:g.6714085T>G	VUS	1 lab	cf38de1532
21:36231783 RUNX1 G>A	21	36231783	36231783	G	A	RUNX1	c.601C>T	NM_001754.4	NP_001745.2:p.(Arg201Ter)	NC_000021.8:g.36231783G>A	(Likely) pathogenic	1 lab	cf3b96b62e
1:94506901 ABCA4 C>A	1	94506901	94506901	C	A	ABCA4				NC_000001.10:g.94506901C>A	(Likely) pathogenic	1 lab	cf3d2280ce
4:151504620 LRBA G>T	4	151504620	151504620	G	T	LRBA	c.6330+4580C>A	NM_001364905.1	NP_001351834.1:p.?	NC_000004.11:g.151504620G>T	VUS	1 lab	1556ab5d61
1:245850921 KIF26B C>T	1	245850921	245850921	C	T	KIF26B	c.4636C>T	NM_018012.4	NP_060482.2:p.(Arg1546Trp)	NC_000001.10:g.245850921C>T	VUS	1 lab	117ce6772b
16:11647515 LITAF G>A	16	11647515	11647515	G	A	LITAF				NC_000016.9:g.11647515G>A	VUS	1 lab	d54a411337
2:44527180 SLC3A1 A>C	2	44527180	44527180	A	C	SLC3A1	c.962A>C	NM_000341.3	NP_000332.2:p.(Glu321Ala)	NC_000002.11:g.44527180A>C	VUS	1 lab	cf40039296
22:21344700 LZTR1 C>A	22	21344700	21344700	C	A	LZTR1	c.677C>A	NM_006767.3	NP_006758.2:p.(Pro226Gln)	NC_000022.10:g.21344700C>A	VUS	1 lab	cf406f540b
9:14120449 NFIB T>G	9	14120449	14120449	T	G	NFIB	c.1235A>C	NM_001190737.2	NP_001177666.1:p.(Gln412Pro)	NC_000009.11:g.14120449T>G	VUS	1 lab	117e841872
14:102964008 TECPR2 G>A	14	102964008	102964008	G	A	TECPR2	c.4033G>A	NM_014844.5	NP_055659.2:p.(Ala1345Thr)	NC_000014.8:g.102964008G>A	(Likely) benign	1 lab	1461751050
8:22874842 RHOBTB2 C>T	8	22874842	22874842	C	T	RHOBTB2	c.2110C>T	NM_001160036.2	NP_001153508.1:p.(Arg704Trp)	NC_000008.10:g.22874842C>T	VUS	1 lab	117fbccb09
2:191864399 STAT1 T>C	2	191864399	191864399	T	C	STAT1	c.494A>G	NM_007315.3	NP_009330.1:p.(Asp165Gly)	NC_000002.11:g.191864399T>C	(Likely) pathogenic	1 lab	1465ee4829
X:154132800 F8 C>T	X	154132800	154132800	C	T	F8	c.5587-1G>A	NM_000132.3	NP_000123.1:p.?	NC_000023.10:g.154132800C>T	(Likely) pathogenic	1 lab	14695a16fc
10:102783229 PDZD7 A>G	10	102783229	102783229	A	G	PDZD7	c.506T>C	NM_001195263.1	NP_001182192.1:p.(Val169Ala)	NC_000010.10:g.102783229A>G	VUS	1 lab	cf4dec666f
14:58953746 KIAA0586 C>G	14	58953746	58953746	C	G	KIAA0586	c.3325C>G	NM_001244189.1	NP_001231118.1:p.(Pro1109Ala)	NC_000014.8:g.58953746C>G	(Likely) benign	1 lab	cf4df13ec0
1:196887509 CFHR4 C>G	1	196887509	196887509	C	G	CFHR4	c.1710C>G	NM_001201550.3	NP_001188479.1:p.(Gly570=)	NC_000001.10:g.196887509C>G	(Likely) benign	1 lab	cf51776779
16:1498951 CLCN7 C>T	16	1498951	1498951	C	T	CLCN7	c.1797+16G>A	NM_001287.5	NP_001278.1:p.?	NC_000016.9:g.1498951C>T	(Likely) benign	1 lab	cf52b84c5f
19:39071092 RYR1 A>G	19	39071092	39071092	A	G	RYR1	c.14594A>G	NM_000540.2	NP_000531.2:p.(Asn4865Ser)	NC_000019.9:g.39071092A>G	VUS	1 lab	cf5930d509
7:6018325 PMS2 G>A	7	6018325	6018325	G	A	PMS2	c.2177C>T	NM_000535.7	NP_000526.2:p.(Pro726Leu)	NC_000007.13:g.6018325G>A	VUS	1 lab	cf5962b632
3:38791556 SCN10A G>A	3	38791556	38791556	G	A	SCN10A	c.1867+8C>T	NM_006514.4	NP_006505.4:p.?	NC_000003.11:g.38791556G>A	(Likely) benign	1 lab	cf5d18f4b2
10:112340661 SMC3 G>C	10	112340661	112340661	G	C	SMC3	c.430-1G>C	NM_005445.3	NP_005436.1:p.?	NC_000010.10:g.112340661G>C	(Likely) pathogenic	1 lab	cf5e326e8f
16:20359937 UMOD A>G	16	20359937	20359937	A	G	UMOD	c.686T>C	NM_003361.4	NP_003352.2:p.(Met229Thr)	NC_000016.9:g.20359937A>G	(Likely) pathogenic	1 lab	cf60535db0
1:113460687 SLC16A1 T>G	1	113460687	113460687	T	G	SLC16A1	c.362-21A>C	NM_003051.4	NP_003042.3:p.?	NC_000001.10:g.113460687T>G	(Likely) benign	1 lab	cf628d0638
1:169498835 F5 G>A	1	169498835	169498835	G	A	F5	c.5419+11C>T	NM_000130.4	NP_000121.2:p.?	NC_000001.10:g.169498835G>A	(Likely) benign	1 lab	cf66929bbc
1:17359572 SDHB C>T	1	17359572	17359572	C	T	SDHB	c.269G>A	NM_003000.2	NP_002991.2:p.(Arg90Gln)	NC_000001.10:g.17359572C>T	VUS	1 lab	cf66e03f98
3:48615753 COL7A1 C>A	3	48615753	48615753	C	A	COL7A1	c.5532+1G>T	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48615753C>A	(Likely) pathogenic	1 lab	cf6af8c1d7
X:48762342 SLC35A2 C>T	X	48762342	48762342	C	T	SLC35A2	c.844G>A	NM_001042498.2	NP_001035963.1:p.(Gly282Arg)	NC_000023.10:g.48762342C>T	(Likely) pathogenic	1 lab	cf6b32e281
X:32841407 DMD C>T	X	32841407	32841407	C	T	DMD	c.357+5G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32841407C>T	(Likely) benign	1 lab	11850bfbfd
1:11333904 UBIAD1 G>A	1	11333904	11333904	G	A	UBIAD1	c.316G>A	NM_013319.3	NP_037451.1:p.(Asp106Asn)	NC_000001.10:g.11333904G>A	(Likely) pathogenic	1 lab	cf6db50eb5
4:1807279 FGFR3 T>A	4	1807279	1807279	T	A	FGFR3	c.1541-7T>A	NM_001163213.1	NP_001156685.1:p.?	NC_000004.11:g.1807279T>A	VUS	1 lab	cf747fe7d9
2:179474099 TTN G>A	2	179474099	179474099	G	A	TTN	c.51938C>T	NM_001267550.2	NP_001254479.2:p.(Pro17313Leu)	NC_000002.11:g.179474099G>A	VUS	1 lab	cf76695583
3:9986234 CRELD1 G>A	3	9986234	9986234	G	A	CRELD1	c.1234G>A	NM_015513.4	NP_056328.2:p.(Val412Met)	NC_000003.11:g.9986234G>A	(Likely) benign	1 lab	cf7ea45555
13:32920969 BRCA2 A>G	13	32920969	32920969	A	G	BRCA2	c.6943A>G	NM_000059.3	NP_000050.2:p.(Ile2315Val)	NC_000013.10:g.32920969A>G	VUS	1 lab	cf8021730c
1:237754110 RYR2 C>G	1	237754110	237754110	C	G	RYR2	c.3978C>G	NM_001035.3	NP_001026.2:p.(Gly1326=)	NC_000001.10:g.237754110C>G	(Likely) benign	1 lab	118668c671
17:3558655 CTNS CT>C	17	3558655	3558656	CT	C	CTNS	c.461+10del	NM_004937.3	NP_004928.2:p.?	NC_000017.10:g.3558656del	(Likely) benign	1 lab	152ef22f8f
19:50805048 MYH14 G>A	19	50805048	50805048	G	A	MYH14	c.5600G>A	NM_001145809.2	NP_001139281.1:p.(Arg1867His)	NC_000019.9:g.50805048G>A	(Likely) benign	1 lab	cf825d72b8
6:30888161 VARS2 T>C	6	30888161	30888161	T	C	VARS2	c.1435T>C	NM_001167734.1	NP_001161206.1:p.(Trp479Arg)	NC_000006.11:g.30888161T>C	(Likely) benign	1 lab	cf83825cfc
X:73963433 NEXMIF T>C	X	73963433	73963433	T	C	NEXMIF				NC_000023.10:g.73963433T>C	(Likely) benign	1 lab	cf8887f9ad
12:112910772 PTPN11 C>T	12	112910772	112910772	C	T	PTPN11	c.781C>T	NM_002834.3	NP_002825.3:p.(Leu261Phe)	NC_000012.11:g.112910772C>T	(Likely) pathogenic	1 lab	cf89e0c03a
3:38592077 SCN5A C>T	3	38592077	38592077	C	T	SCN5A	c.5786G>A	NM_198056.2	NP_932173.1:p.(Arg1929His)	NC_000003.11:g.38592077C>T	VUS	1 lab	146cfcbf4f
2:219000187 CXCR2 C>T	2	219000187	219000187	C	T	CXCR2	c.663C>T	NM_001557.4	NP_001548.1:p.(Ile221=)	NC_000002.11:g.219000187C>T	(Likely) benign	1 lab	146f35d547
9:119460517 TRIM32 C>T	9	119460517	119460517	C	T	TRIM32	c.496C>T	NM_012210.3	NP_036342.2:p.(Arg166Trp)	NC_000009.11:g.119460517C>T	VUS	1 lab	cf8d8a83fb
13:110825107 COL4A1 T>A	13	110825107	110825107	T	A	COL4A1	c.3516A>T	NM_001845.5	NP_001836.3:p.(Gly1172=)	NC_000013.10:g.110825107T>A	VUS	1 lab	cf8f4ef989
22:19754283 TBX1 CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCG>C	22	19754283	19754323	CCAGCCGCCGCGGCCGCCGCCGCCGCTGCCGCAGCTGCCG	C	TBX1	c.1383_1421del	NM_080647.1	NP_542378.1:p.(Ala464_Ala476del)	NC_000022.10:g.19754285_19754323del	(Likely) benign	1 lab	cf906e64c2
9:140057451 GRIN1 G>T	9	140057451	140057451	G	T	GRIN1				NC_000009.11:g.140057451G>T	VUS	1 lab	cf918acce8
20:62038655 KCNQ2 T>A	20	62038655	62038655	T	A	KCNQ2	c.1961A>T	NM_172107.2	NP_742105.1:p.(Glu654Val)	NC_000020.10:g.62038655T>A	VUS	1 lab	cf9419d37b
2:165947399 SCN3A A>G	2	165947399	165947399	A	G	SCN3A	c.5264T>C	NM_006922.3	NP_008853.3:p.(Ile1755Thr)	NC_000002.11:g.165947399A>G	VUS	1 lab	cf942205ab
20:33580987 MYH7B C>T	20	33580987	33580987	C	T	MYH7B	c.2392C>T	NM_020884.4	NP_065935.3:p.(Leu798=)	NC_000020.10:g.33580987C>T	(Likely) benign	1 lab	cf95b809b2
9:94486688 ROR2 G>A	9	94486688	94486688	G	A	ROR2				NC_000009.11:g.94486688G>A	(Likely) benign	1 lab	cf96a51f26
16:56902252 SLC12A3 G>A	16	56902252	56902252	G	A	SLC12A3	c.473G>A	NM_000339.2	NP_000330.2:p.(Arg158Gln)	NC_000016.9:g.56902252G>A	(Likely) pathogenic	1 lab	cf96b70854
2:179453779 TTN A>G	2	179453779	179453779	A	G	TTN				NC_000002.11:g.179453779A>G	(Likely) benign	1 lab	cf970bbe8c
13:101890148 MISSING A>T	13	101890148	101890148	A	T	MISSING				NC_000013.10:g.101890148A>T	VUS	1 lab	cf980cd9f6
X:70598728 TAF1 T>G	X	70598728	70598728	T	G	TAF1	c.1267T>G	NM_001286074.1	NP_001273003.1:p.(Phe423Val)	NC_000023.10:g.70598728T>G	VUS	1 lab	cf9878cfa6
5:112174742 APC G>A	5	112174742	112174742	G	A	APC	c.3451G>A	NM_000038.6	NP_000029.2:p.(Glu1151Lys)	NC_000005.9:g.112174742G>A	VUS	1 lab	cf99f838c1
6:42690010 PRPH2 C>T	6	42690010	42690010	C	T	PRPH2	c.63G>A	NM_000322.4	NP_000313.2:p.(Trp21Ter)	NC_000006.11:g.42690010C>T	(Likely) pathogenic	1 lab	cf9a396981
1:26786594 DHDDS G>A	1	26786594	26786594	G	A	DHDDS	c.724G>A	NM_205861.2	NP_995583.1:p.(Glu242Lys)	NC_000001.10:g.26786594G>A	VUS	1 lab	cf9b16707b
12:133201574 POLE G>GGCAGACCTGAAAGGGA	12	133201574	133201594	G	GGCAGACCTGAAAGGGA	POLE	c.6658-10_6663dup	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133201579_133201594dup	VUS	1 lab	cf9bb4e3cc
1:12064969 MFN2 C>A	1	12064969	12064969	C	A	MFN2	c.1480C>A	NM_014874.3	NP_055689.1:p.(Gln494Lys)	NC_000001.10:g.12064969C>A	VUS	1 lab	cfa257190d
4:39506960 UGDH A>C	4	39506960	39506960	A	C	UGDH	c.1068T>G	NM_003359.4	NP_003350.1:p.(Tyr356Ter)	NC_000004.11:g.39506960A>C	VUS	1 lab	cfa3ae8ac0
12:6131171 VWF C>T	12	6131171	6131171	C	T	VWF	c.3569G>A	NM_000552.3	NP_000543.2:p.(Cys1190Tyr)	NC_000012.11:g.6131171C>T	(Likely) pathogenic	1 lab	cfa4bd38ac
X:107408115 COL4A6 C>G	X	107408115	107408115	C	G	COL4A6	c.4013G>C	NM_001287758.1	NP_001274687.1:p.(Gly1338Ala)	NC_000023.10:g.107408115C>G	VUS	1 lab	cfa8883302
15:34094069 RYR3 G>A	15	34094069	34094069	G	A	RYR3	c.9919-1G>A	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34094069G>A	(Likely) pathogenic	1 lab	1187fb1862
1:241680535 FH T>G	1	241680535	241680535	T	G	FH	c.214A>C	NM_000143.4	NP_000134.2:p.(Thr72Pro)	NC_000001.10:g.241680535T>G	(Likely) pathogenic	1 lab	cfb2c5aafb
5:176710791 NSD1 C>T	5	176710791	176710791	C	T	NSD1	c.6013C>T	NM_022455.5	NP_071900.2:p.(Arg2005Ter)	NC_000005.9:g.176710791C>T	(Likely) pathogenic	1 lab	cfb2feba20
9:123723776 C5 C>T	9	123723776	123723776	C	T	C5	c.4572G>A	NM_001735.3	NP_001726.2:p.(Ala1524=)	NC_000009.11:g.123723776C>T	(Likely) benign	1 lab	cfb32b76e5
1:1425940 ATAD3B C>T	1	1425940	1425940	C	T	ATAD3B	c.1506-3C>T	NM_031921.5	NP_114127.3:p.?	NC_000001.10:g.1425940C>T	VUS	1 lab	cfb48bf22e
5:112162945 APC G>C	5	112162945	112162945	G	C	APC	c.1548+1G>C	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112162945G>C	(Likely) pathogenic	1 lab	cfb57530c2
10:96058363 PLCE1 C>T	10	96058363	96058363	C	T	PLCE1	c.5395C>T	NM_016341.4	NP_057425.3:p.(Pro1799Ser)	NC_000010.10:g.96058363C>T	VUS	1 lab	cfb70dae7f
5:11411710 CTNND2 G>A	5	11411710	11411710	G	A	CTNND2	c.377C>T	NM_001332.4	NP_001323.1:p.(Ser126Phe)	NC_000005.9:g.11411710G>A	VUS	1 lab	cfbb7b9764
19:53959931 MISSING G>C	19	53959931	53959931	G	C	MISSING				NC_000019.9:g.53959931G>C	VUS	1 lab	cfbd2313f0
11:88911656 TYR A>G	11	88911656	88911656	A	G	TYR	c.535A>G	NM_000372.4	NP_000363.1:p.(Met179Val)	NC_000011.9:g.88911656A>G	VUS	1 lab	cfbdc1c9c9
17:78081617 GAA G>C	17	78081617	78081617	G	C	GAA	c.877G>C	NM_000152.3	NP_000143.2:p.(Gly293Arg)	NC_000017.10:g.78081617G>C	(Likely) pathogenic	1 lab	147089f763
16:56540049 BBS2 G>A	16	56540049	56540049	G	A	BBS2	c.700C>T	NM_031885.3	NP_114091.3:p.(Arg234Ter)	NC_000016.9:g.56540049G>A	(Likely) pathogenic	1 lab	cfc0d62cfe
1:226047036 MISSING TAG>T	1	226047036	226047042	TAG	T	MISSING				NC_000001.10:g.226047041_226047042del	(Likely) pathogenic	1 lab	cfc279ce65
8:90993061 NBN A>G	8	90993061	90993061	A	G	NBN	c.381T>C	NM_002485.4	NP_002476.2:p.(Ala127=)	NC_000008.10:g.90993061A>G	(Likely) benign	1 lab	cfc6ca3870
1:216495272 USH2A G>C	1	216495272	216495272	G	C	USH2A	c.1597C>G	NM_206933.2	NP_996816.2:p.(Pro533Ala)	NC_000001.10:g.216495272G>C	VUS	1 lab	cfc7ac31af
2:39250292 SOS1 T>G	2	39250292	39250292	T	G	SOS1	c.1277A>C	NM_005633.3	NP_005624.2:p.(Gln426Pro)	NC_000002.11:g.39250292T>G	(Likely) pathogenic	1 lab	cfc8e1b5c1
22:38379445 SOX10 T>A	22	38379445	38379445	T	A	SOX10	c.347A>T	NM_006941.4	NP_008872.1:p.(Gln116Leu)	NC_000022.10:g.38379445T>A	(Likely) pathogenic	1 lab	cfcc07361c
11:118529595 TREH A>G	11	118529595	118529595	A	G	TREH	c.1545+19T>C	NM_007180.3	NP_009111.2:p.?	NC_000011.9:g.118529595A>G	(Likely) benign	1 lab	118d2af658
14:23893223 MYH7 T>G	14	23893223	23893223	T	G	MYH7	c.2815A>C	NM_000257.4	NP_000248.2:p.(Lys939Gln)	NC_000014.8:g.23893223T>G	VUS	1 lab	cfd3ea0a33
6:129380925 LAMA2 A>G	6	129380925	129380925	A	G	LAMA2	c.284-4A>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129380925A>G	VUS	1 lab	118f838f51
16:31478094 ARMC5 C>T	16	31478094	31478094	C	T	ARMC5	c.2692C>T	NM_001105247.2	NP_001098717.1:p.(Arg898Trp)	NC_000016.9:g.31478094C>T	(Likely) pathogenic	1 lab	cfd5ebcbc3
7:104707206 KMT2E A>AT	7	104707206	104707207	A	AT	KMT2E				NC_000007.13:g.104707207dup	(Likely) pathogenic	1 lab	cfd659e7f5
17:17119682 FLCN G>A	17	17119682	17119682	G	A	FLCN	c.1300+12C>T	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17119682G>A	(Likely) benign	1 lab	cfd6f12bdf
6:33647740 ITPR3 G>A	6	33647740	33647740	G	A	ITPR3	c.4054G>A	NM_002224.4	NP_002215.2:p.(Ala1352Thr)	NC_000006.11:g.33647740G>A	(Likely) benign	1 lab	cfd87db260
12:110236624 TRPV4 C>T	12	110236624	110236624	C	T	TRPV4	c.947G>A	NM_021625.4	NP_067638.3:p.(Arg316His)	NC_000012.11:g.110236624C>T	(Likely) pathogenic	1 lab	cfdbfd0e74
1:228432219 OBSCN A>G	1	228432219	228432219	A	G	OBSCN	c.3704A>G	NM_001271223.2	NP_001258152.2:p.(Glu1235Gly)	NC_000001.10:g.228432219A>G	VUS	1 lab	cfdc9843c1
17:19261216 B9D1 G>A	17	19261216	19261216	G	A	B9D1	c.181C>T	NM_001321218.2	NP_001308147.1:p.(Arg61Trp)	NC_000017.10:g.19261216G>A	(Likely) benign	1 lab	14756fe1d3
7:128480701 FLNC C>T	7	128480701	128480701	C	T	FLNC	c.1649C>T	NM_001458.4	NP_001449.3:p.(Thr550Met)	NC_000007.13:g.128480701C>T	VUS	1 lab	cfdef3e93d
6:75899083 COL12A1 A>C	6	75899083	75899083	A	C	COL12A1				NC_000006.11:g.75899083A>C	(Likely) benign	1 lab	cfe55c6c71
13:39264639 FREM2 T>G	13	39264639	39264639	T	G	FREM2	c.3158T>G	NM_207361.5	NP_997244.4:p.(Val1053Gly)	NC_000013.10:g.39264639T>G	VUS	1 lab	cfe5f0bf77
10:88492723 LDB3 T>A	10	88492723	88492723	T	A	LDB3	c.2174T>A	NM_007078.3	NP_009009.1:p.(Ile725Asn)	NC_000010.10:g.88492723T>A	VUS	1 lab	cfe992d954
17:41276071 BRCA1 T>G	17	41276071	41276071	T	G	BRCA1	c.43A>C	NM_007294.3	NP_009225.1:p.(Ile15Leu)	NC_000017.10:g.41276071T>G	(Likely) benign	1 lab	cfea3f793f
1:236924478 ACTN2 G>GA	1	236924478	236924479	G	GA	ACTN2	c.2526+5_2526+6insA	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236924478_236924479insA	(Likely) benign	1 lab	cfea417116
16:56912997 SLC12A3 T>TTGCGTGG	16	56912997	56912998	T	TTGCGTGG	SLC12A3	c.1193_1194insTGCGTGG	NM_000339.2	NP_000330.2:p.(Arg399AlafsTer4)	NC_000016.9:g.56912997_56912998insTGCGTGG	(Likely) pathogenic	1 lab	cfea49a158
4:6303943 WFS1 C>A	4	6303943	6303943	C	A	WFS1	c.2421C>A	NM_006005.3	NP_005996.2:p.(Ser807Arg)	NC_000004.11:g.6303943C>A	VUS	1 lab	cfea7a93ab
X:69250343 EDA C>T	X	69250343	69250343	C	T	EDA	c.766C>T	NM_001399.5	NP_001390.1:p.(Gln256Ter)	NC_000023.10:g.69250343C>T	(Likely) pathogenic	1 lab	cfec6eb7a2
22:41569609 EP300 C>T	22	41569609	41569609	C	T	EP300	c.4618-18C>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41569609C>T	(Likely) benign	1 lab	1190c385ac
5:112174775 APC T>G	5	112174775	112174775	T	G	APC	c.3484T>G	NM_000038.5	NP_000029.2:p.(Tyr1162Asp)	NC_000005.9:g.112174775T>G	VUS	1 lab	cff268d244
21:47545942 COL6A2 G>C	21	47545942	47545942	G	C	COL6A2	c.2213G>C	NM_001849.3	NP_001840.3:p.(Arg738Pro)	NC_000021.8:g.47545942G>C	VUS	1 lab	cff62fa914
16:3706715 TRAP1 C>G	16	3706715	3706715	C	G	TRAP1				NC_000016.9:g.3706715C>G	VUS	1 lab	cff6e1b6a8
8:38325768 FGFR1 G>A	8	38325768	38325768	G	A	FGFR1	c.-358C>T	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38325768G>A	(Likely) benign	1 lab	cffb33bd6f
5:36117847 LMBRD2 ATATAAT>A	5	36117847	36117857	ATATAAT	A	LMBRD2	c.1286_1291del	NM_001007527.2	NP_001007528.1:p.(Asn429_Tyr430del)	NC_000005.9:g.36117852_36117857del	VUS	1 lab	1191927b37
18:25565102 CDH2 A>T	18	25565102	25565102	A	T	CDH2	c.2071T>A	NM_001792.4	NP_001783.2:p.(Ser691Thr)	NC_000018.9:g.25565102A>T	VUS	1 lab	d00098c9a9
4:4862072 MSX1 C>T	4	4862072	4862072	C	T	MSX1	c.446C>T	NM_002448.3	NP_002439.2:p.(Pro149Leu)	NC_000004.11:g.4862072C>T	VUS	1 lab	1196c3563e
16:11002910 CIITA G>A	16	11002910	11002910	G	A	CIITA	c.2682G>A	NM_000246.3	NP_000237.2:p.(Ala894=)	NC_000016.9:g.11002910G>A	(Likely) benign	1 lab	147bb9e9d1
2:227896661 COL4A4 C>T	2	227896661	227896661	C	T	COL4A4	c.3817G>A	NM_000092.4	NP_000083.3:p.(Gly1273Arg)	NC_000002.11:g.227896661C>T	(Likely) pathogenic	1 lab	d00e8439ef
1:115252256 NRAS T>C	1	115252256	115252256	T	C	NRAS				NC_000001.10:g.115252256T>C	(Likely) benign	1 lab	d00ee4f1ea
1:17371319 SDHB C>T	1	17371319	17371319	C	T	SDHB	c.137G>A	NM_003000.3	NP_002991.2:p.(Arg46Gln)	NC_000001.10:g.17371319C>T	(Likely) pathogenic	1 lab	d01031b75e
20:30414451 MYLK2 A>G	20	30414451	30414451	A	G	MYLK2	c.1016A>G	NM_033118.3	NP_149109.1:p.(His339Arg)	NC_000020.10:g.30414451A>G	VUS	1 lab	1480d51bb4
X:107925128 COL4A5 C>T	X	107925128	107925128	C	T	COL4A5	c.4216+10C>T	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107925128C>T	(Likely) benign	1 lab	d013af2aca
6:112454035 LAMA4 A>T	6	112454035	112454035	A	T	LAMA4	c.3754T>A	NM_001105206.2	NP_001098676.2:p.(Ser1252Thr)	NC_000006.11:g.112454035A>T	VUS	1 lab	d0158a2713
8:61777860 CHD7 G>A	8	61777860	61777860	G	A	CHD7	c.8362G>A	NM_017780.3	NP_060250.2:p.(Asp2788Asn)	NC_000008.10:g.61777860G>A	VUS	1 lab	d0192c366b
8:106800945 ZFPM2 G>A	8	106800945	106800945	G	A	ZFPM2	c.533-1G>A	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106800945G>A	(Likely) pathogenic	1 lab	d019f9d797
21:34924627 SON ACGCTCTATGATGTCAGCCTACGAG>A	21	34924627	34924689	ACGCTCTATGATGTCAGCCTACGAG	A	SON	c.3129_3152del	NM_032195.3	NP_115571.3:p.(Ala1044_Ser1051del)	NC_000021.8:g.34924666_34924689del	(Likely) benign	1 lab	1198f2a0df
7:128497224 FLNC G>T	7	128497224	128497224	G	T	FLNC	c.7614G>T	NM_001458.4	NP_001449.3:p.(Leu2538Phe)	NC_000007.13:g.128497224G>T	(Likely) benign	1 lab	1483d152aa
2:112777089 MERTK C>T	2	112777089	112777089	C	T	MERTK	c.2179C>T	NM_006343.2	NP_006334.2:p.(Arg727Ter)	NC_000002.11:g.112777089C>T	(Likely) pathogenic	1 lab	d021fb70e7
16:89350717 ANKRD11 CCTTTTCTG>C	16	89350717	89350729	CCTTTTCTG	C	ANKRD11	c.2225_2232del	NM_013275.5	NP_037407.4:p.(Ala742GlyfsTer37)	NC_000016.9:g.89350722_89350729del	(Likely) pathogenic	1 lab	d022210c02
1:196646604 CFH A>G	1	196646604	196646604	A	G	CFH	c.428-2A>G	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196646604A>G	(Likely) pathogenic	1 lab	d022805b5d
2:241724493 KIF1A A>T	2	241724493	241724493	A	T	KIF1A	c.633T>A	NM_001244008.1	NP_001230937.1:p.(Asn211Lys)	NC_000002.11:g.241724493A>T	(Likely) pathogenic	1 lab	d023c93d89
6:32816597 TAP1 G>T	6	32816597	32816597	G	T	TAP1	c.1578C>A	NM_000593.5	NP_000584.2:p.(Pro526=)	NC_000006.11:g.32816597G>T	(Likely) benign	1 lab	1484992cd1
2:128178913 PROC G>A	2	128178913	128178913	G	A	PROC	c.125G>A	NM_000312.3	NP_000303.1:p.(Arg42His)	NC_000002.11:g.128178913G>A	(Likely) pathogenic	1 lab	d025cd1151
12:20801785 PDE3A T>C	12	20801785	20801785	T	C	PDE3A	c.2729T>C	NM_000921.5	NP_000912.3:p.(Leu910Pro)	NC_000012.11:g.20801785T>C	(Likely) pathogenic	1 lab	119e33db05
10:89624124 KLLN T>C	10	89624124	89624124	T	C	KLLN				NC_000010.10:g.89624124T>C	VUS	1 lab	d02943dc3a
1:119964901 HSD3B2 G>A	1	119964901	119964901	G	A	HSD3B2	c.777G>A	NM_000198.4	NP_000189.1:p.(Thr259=)	NC_000001.10:g.119964901G>A	(Likely) benign	1 lab	d02abebd59
14:102452837 DYNC1H1 C>T	14	102452837	102452837	C	T	DYNC1H1	c.2275C>T	NM_001376.4	NP_001367.2:p.(Arg759Cys)	NC_000014.8:g.102452837C>T	(Likely) pathogenic	1 lab	d02d77d73f
6:32008192 CYP21A2 C>T	6	32008192	32008192	C	T	CYP21A2	c.949C>T	NM_000500.9	NP_000491.4:p.(Arg317Ter)	NC_000006.11:g.32008192C>T	(Likely) pathogenic	1 lab	119f40f642
1:241667515 FH A>G	1	241667515	241667515	A	G	FH	c.935T>C	NM_000143.3	NP_000134.2:p.(Phe312Ser)	NC_000001.10:g.241667515A>G	(Likely) pathogenic	1 lab	d0354e375d
2:179500936 TTN C>A	2	179500936	179500936	C	A	TTN	c.41362G>T	NM_001267550.2	NP_001254479.2:p.(Glu13788Ter)	NC_000002.11:g.179500936C>A	(Likely) pathogenic	1 lab	d036e78011
2:167289012 SCN7A T>A	2	167289012	167289012	T	A	SCN7A	c.2408A>T	NM_002976.3	NP_002967.2:p.(Asp803Val)	NC_000002.11:g.167289012T>A	(Likely) benign	1 lab	d036f8fabe
10:75758133 VCL G>C	10	75758133	75758133	G	C	VCL	c.168G>C	NM_014000.2	NP_054706.1:p.(Arg56=)	NC_000010.10:g.75758133G>C	(Likely) benign	1 lab	d037157f66
20:32026768 SNTA1 C>G	20	32026768	32026768	C	G	SNTA1	c.375G>C	NM_003098.2	NP_003089.1:p.(Gln125His)	NC_000020.10:g.32026768C>G	VUS	1 lab	1486dec339
1:6515297 ESPN G>A	1	6515297	6515297	G	A	ESPN	c.2326-1947G>A	NM_031475.3	NP_113663.2:p.?	NC_000001.10:g.6515297G>A	(Likely) benign	1 lab	d03a8f672b
12:6127837 VWF G>A	12	6127837	6127837	G	A	VWF	c.4747C>T	NM_000552.3	NP_000543.2:p.(Arg1583Trp)	NC_000012.11:g.6127837G>A	VUS	1 lab	d03f0c50cd
19:11287353 KANK2 G>A	19	11287353	11287353	G	A	KANK2	c.1661C>T	NM_001136191.2	NP_001129663.1:p.(Ala554Val)	NC_000019.9:g.11287353G>A	(Likely) benign	1 lab	14874cbf07
12:114832545 TBX5 C>T	12	114832545	114832545	C	T	TBX5	c.663+1G>A	NM_181486.4	NP_852259.1:p.?	NC_000012.11:g.114832545C>T	(Likely) pathogenic	1 lab	d046ba72f2
12:89815012 POC1B C>T	12	89815012	89815012	C	T	POC1B	c.1355G>A	NM_172240.2	NP_758440.1:p.(Arg452Gln)	NC_000012.11:g.89815012C>T	VUS	1 lab	d04700d359
10:16877110 CUBN G>A	10	16877110	16877110	G	A	CUBN	c.10265C>T	NM_001081.3	NP_001072.2:p.(Thr3422Ile)	NC_000010.10:g.16877110G>A	(Likely) benign	1 lab	d047d53d26
11:126343262 KIRREL3 GC>G	11	126343262	126343263	GC	G	KIRREL3	c.532del	NM_032531.4	NP_115920.1:p.(Ala178GlnfsTer139)	NC_000011.9:g.126343263del	(Likely) pathogenic	1 lab	d048115695
10:124753922 IKZF5 G>C	10	124753922	124753922	G	C	IKZF5	c.634C>G	NM_001271840.1	NP_001258769.1:p.(Leu212Val)	NC_000010.10:g.124753922G>C	VUS	1 lab	d0491a2ee8
11:108129707 ATM T>A	11	108129707	108129707	T	A	ATM	c.2377-6T>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129707T>A	(Likely) benign	1 lab	d049561c41
7:114298239 FOXP2 C>G	7	114298239	114298239	C	G	FOXP2				NC_000007.13:g.114298239C>G	(Likely) pathogenic	1 lab	d04a8824b1
4:187201675 F11 T>TCGGG	4	187201675	187201676	T	TCGGG	F11	c.1076_1077insCGGG	NM_000128.3	NP_000119.1:p.(Leu360GlyfsTer17)	NC_000004.11:g.187201675_187201676insCGGG	(Likely) pathogenic	1 lab	d04f372b33
3:52181076 POC1A C>T	3	52181076	52181076	C	T	POC1A	c.491G>A	NM_015426.4	NP_056241.3:p.(Ser164Asn)	NC_000003.11:g.52181076C>T	(Likely) pathogenic	1 lab	d050300e55
13:32969117 BRCA2 T>G	13	32969117	32969117	T	G	BRCA2	c.9501+47T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32969117T>G	(Likely) benign	1 lab	1492929f0a
17:1554175 PRPF8 C>T	17	1554175	1554175	C	T	PRPF8	c.6929G>A	NM_006445.3	NP_006436.3:p.(Arg2310Lys)	NC_000017.10:g.1554175C>T	(Likely) pathogenic	1 lab	d051e6565c
12:8990053 A2ML1 C>G	12	8990053	8990053	C	G	A2ML1	c.746C>G	NM_144670.4	NP_653271.2:p.(Pro249Arg)	NC_000012.11:g.8990053C>G	(Likely) benign	1 lab	d054c00367
8:41804203 KAT6A C>T	8	41804203	41804203	C	T	KAT6A	c.1903-1G>A	NM_001099412.1	NP_001092882.1:p.?	NC_000008.10:g.41804203C>T	(Likely) pathogenic	1 lab	d05641dafd
4:120107108 MYOZ2 T>TA	4	120107108	120107110	T	TA	MYOZ2	c.561-11dup	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120107110dup	(Likely) benign	1 lab	d0584fe802
22:24108491 CHCHD10 A>G	22	24108491	24108491	A	G	CHCHD10	c.262-29T>C	NM_213720.3	NP_998885.1:p.?	NC_000022.10:g.24108491A>G	(Likely) benign	1 lab	d05eb682a6
3:37035040 MLH1 T>G	3	37035040	37035040	T	G	MLH1	c.2T>G	NM_000249.3	NP_000240.1:p.(Met1?)	NC_000003.11:g.37035040T>G	(Likely) pathogenic	1 lab	d05ecf17d2
17:42339949 SLC4A1 G>T	17	42339949	42339949	G	T	SLC4A1	c.106+55C>A	NM_000342.4	NP_000333.1:p.?	NC_000017.10:g.42339949G>T	(Likely) benign	1 lab	c3a6fe8ea6
3:48630379 COL7A1 T>C	3	48630379	48630379	T	C	COL7A1	c.683-8A>G	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48630379T>C	(Likely) benign	1 lab	d05f57fcd3
15:43900153 STRC C>T	15	43900153	43900153	C	T	STRC	c.3702G>A	NM_153700.2	NP_714544.1:p.(Glu1234=)	NC_000015.9:g.43900153C>T	(Likely) benign	1 lab	d05f5945fa
8:100821738 VPS13B C>T	8	100821738	100821738	C	T	VPS13B	c.8152C>T	NM_017890.5	NP_060360.3:p.(Leu2718Phe)	NC_000008.10:g.100821738C>T	VUS	1 lab	11aac789a3
10:71690184 COL13A1 G>A	10	71690184	71690184	G	A	COL13A1				NC_000010.10:g.71690184G>A	VUS	1 lab	d06318a67e
13:52548911 ATP7B C>T	13	52548911	52548911	C	T	ATP7B	c.445G>A	NM_000053.4	NP_000044.2:p.(Val149Met)	NC_000013.10:g.52548911C>T	(Likely) benign	1 lab	11ab3bce69
20:61982124 CHRNA4 A>G	20	61982124	61982124	A	G	CHRNA4	c.639T>C	NM_000744.7	NP_000735.1:p.(Asp213=)	NC_000020.10:g.61982124A>G	(Likely) benign	1 lab	11adcf470f
1:226127471 LEFTY2 G>C	1	226127471	226127471	G	C	LEFTY2	c.482C>G	NM_003240.3	NP_003231.2:p.(Ser161Cys)	NC_000001.10:g.226127471G>C	(Likely) benign	1 lab	d064d18b76
2:11922348 LPIN1 A>G	2	11922348	11922348	A	G	LPIN1	c.1126A>G	NM_001261428.1	NP_001248357.1:p.(Lys376Glu)	NC_000002.11:g.11922348A>G	VUS	1 lab	d0671c2268
20:57876669 EDN3 A>T	20	57876669	57876669	A	T	EDN3	c.257A>T	NM_207034.3	NP_996917.1:p.(Glu86Val)	NC_000020.10:g.57876669A>T	VUS	1 lab	11addaaa2f
12:80735727 OTOGL G>T	12	80735727	80735727	G	T	OTOGL	c.5024-1G>T	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80735727G>T	(Likely) pathogenic	1 lab	d06f948a50
19:36339995 NPHS1 G>A	19	36339995	36339995	G	A	NPHS1	c.895C>T	NM_004646.3	NP_004637.1:p.(Arg299Cys)	NC_000019.9:g.36339995G>A	(Likely) pathogenic	1 lab	14954b82b9
2:179489242 TTN T>C	2	179489242	179489242	T	C	TTN	c.44765A>G	NM_001267550.2	NP_001254479.2:p.(Tyr14922Cys)	NC_000002.11:g.179489242T>C	VUS	1 lab	d07171ac05
2:179639211 TTN T>C	2	179639211	179639211	T	C	TTN	c.6791-11A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179639211T>C	(Likely) benign	1 lab	d071bf506d
13:32944543 BRCA2 C>G	13	32944543	32944543	C	G	BRCA2	c.8336C>G	NM_000059.3	NP_000050.2:p.(Ser2779Cys)	NC_000013.10:g.32944543C>G	VUS	1 lab	d07376090e
20:25300900 ABHD12 C>T	20	25300900	25300900	C	T	ABHD12	c.477G>A	NM_001042472.2	NP_001035937.1:p.(Trp159Ter)	NC_000020.10:g.25300900C>T	(Likely) pathogenic	1 lab	d078e6ffd8
12:71050501 PTPRR G>T	12	71050501	71050501	G	T	PTPRR	c.1863C>A	NM_002849.4	NP_002840.2:p.(Cys621Ter)	NC_000012.11:g.71050501G>T	VUS	1 lab	d078fff948
10:89690809 MISSING T>C	10	89690809	89690809	T	C	MISSING				NC_000010.10:g.89690809T>C	(Likely) benign	1 lab	d07a1ce789
18:50832017 DCC C>T	18	50832017	50832017	C	T	DCC				NC_000018.9:g.50832017C>T	VUS	1 lab	d07dc86305
4:41262738 UCHL1 G>AAGGA	4	41262738	41262738	G	AAGGA	UCHL1	c.249delinsAAGGA	NM_004181.5	NP_004172.2:p.(Gln84ArgfsTer20)	NC_000004.11:g.41262738delinsAAGGA	(Likely) pathogenic	1 lab	d07df4bfd3
14:23868083 MYH6 T>C	14	23868083	23868083	T	C	MYH6	c.1745A>G	NM_002471.3	NP_002462.2:p.(His582Arg)	NC_000014.8:g.23868083T>C	VUS	1 lab	d07e8530ae
17:29683601 NF1 G>A	17	29683601	29683601	G	A	NF1	c.7738+1G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29683601G>A	(Likely) pathogenic	1 lab	d0833567ac
22:40081812 CACNA1I C>T	22	40081812	40081812	C	T	CACNA1I	c.6074C>T	NM_021096.4	NP_066919.2:p.(Ala2025Val)	NC_000022.10:g.40081812C>T	VUS	1 lab	11b35b0a25
6:79672849 PHIP C>A	6	79672849	79672849	C	A	PHIP				NC_000006.11:g.79672849C>A	(Likely) pathogenic	1 lab	d089a5cad7
1:152277307 FLG G>C	1	152277307	152277307	G	C	FLG	c.10055C>G	NM_002016.1	NP_002007.1:p.(Thr3352Arg)	NC_000001.10:g.152277307G>C	(Likely) benign	1 lab	d08ced1122
17:59763508 BRIP1 C>T	17	59763508	59763508	C	T	BRIP1	c.2594G>A	NM_032043.2	NP_114432.2:p.(Arg865Gln)	NC_000017.10:g.59763508C>T	VUS	1 lab	d08d8b7bda
15:43908295 STRC A>G	15	43908295	43908295	A	G	STRC	c.1469T>C	NM_153700.2	NP_714544.1:p.(Leu490Pro)	NC_000015.9:g.43908295A>G	(Likely) pathogenic	1 lab	d08eb0c206
5:149755421 TCOF1 A>G	5	149755421	149755421	A	G	TCOF1	c.1842A>G	NM_001135243.1	NP_001128715.1:p.(Ser614=)	NC_000005.9:g.149755421A>G	(Likely) benign	1 lab	d094d47b89
17:18030104 MYO15A G>A	17	18030104	18030104	G	A	MYO15A	c.3867-1G>A	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18030104G>A	(Likely) pathogenic	1 lab	d094e11687
12:21967641 ABCC9 G>A	12	21967641	21967641	G	A	ABCC9	c.4039C>T	NM_005691.2	NP_005682.2:p.(Arg1347Cys)	NC_000012.11:g.21967641G>A	(Likely) pathogenic	1 lab	d0958ba0e3
6:32729642 HLA-DQB2 G>C	6	32729642	32729642	G	C	HLA-DQB2	c.159C>G	NM_001198858.2	NP_001185787.1:p.(Arg53=)	NC_000006.11:g.32729642G>C	(Likely) benign	1 lab	11b3cb1919
4:77663010 SHROOM3 C>G	4	77663010	77663010	C	G	SHROOM3	c.3684C>G	NM_020859.4	NP_065910.3:p.(Arg1228=)	NC_000004.11:g.77663010C>G	(Likely) benign	1 lab	d09985fd1a
21:47545376 COL6A2 C>G	21	47545376	47545376	C	G	COL6A2	c.1817-3C>G	NM_001849.3	NP_001840.3:p.?	NC_000021.8:g.47545376C>G	(Likely) pathogenic	1 lab	d0a23beef0
21:47642586 LSS C>T	21	47642586	47642586	C	T	LSS	c.386G>A	NM_002340.5	NP_002331.3:p.(Arg129Gln)	NC_000021.8:g.47642586C>T	VUS	1 lab	d0a28118c0
19:1220393 STK11 C>T	19	1220393	1220393	C	T	STK11	c.486C>T	NM_000455.5	NP_000446.1:p.(Asp162=)	NC_000019.9:g.1220393C>T	VUS	1 lab	203773760b
1:204131186 REN T>G	1	204131186	204131186	T	G	REN	c.204A>C	NM_000537.3	NP_000528.1:p.(Thr68=)	NC_000001.10:g.204131186T>G	(Likely) benign	1 lab	d0a392909d
13:32913893 BRCA2 C>T	13	32913893	32913893	C	T	BRCA2	c.5401C>T	NM_000059.4	NP_000050.3:p.(Pro1801Ser)	NC_000013.10:g.32913893C>T	(Likely) benign	1 lab	d0a4a0f4cd
12:31227045 DDX11 C>T	12	31227045	31227045	C	T	DDX11	c.-5+20C>T	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31227045C>T	(Likely) benign	1 lab	1497a0afea
5:126676323 MEGF10 G>A	5	126676323	126676323	G	A	MEGF10	c.319+1G>A	NM_032446.2	NP_115822.1:p.?	NC_000005.9:g.126676323G>A	(Likely) pathogenic	1 lab	d0aac112ac
X:153171369 AVPR2 C>T	X	153171369	153171369	C	T	AVPR2	c.409C>T	NM_000054.6	NP_000045.1:p.(Arg137Cys)	NC_000023.10:g.153171369C>T	(Likely) pathogenic	1 lab	d0c2ae221b
2:69601212 GFPT1 C>T	2	69601212	69601212	C	T	GFPT1	c.41G>A	NM_001244710.1	NP_001231639.1:p.(Arg14Gln)	NC_000002.11:g.69601212C>T	VUS	1 lab	d0ac742e7a
1:16360316 CLCNKA A>T	1	16360316	16360316	A	T	CLCNKA	c.*163A>T	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16360316A>T	(Likely) benign	1 lab	149c4b19ea
3:122002912 CASR T>C	3	122002912	122002912	T	C	CASR	c.2111T>C	NM_000388.4	NP_000379.3:p.(Leu704Pro)	NC_000003.11:g.122002912T>C	VUS	1 lab	d0ae196963
9:35805608 NPR2 A>G	9	35805608	35805608	A	G	NPR2	c.1988A>G	NM_003995.4	NP_003986.2:p.(Tyr663Cys)	NC_000009.11:g.35805608A>G	VUS	1 lab	d0aeb95fe1
11:76886511 MYO7A G>A	11	76886511	76886511	G	A	MYO7A	c.2187+1G>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76886511G>A	(Likely) pathogenic	1 lab	d0af69fd04
11:76910766 MYO7A C>T	11	76910766	76910766	C	T	MYO7A	c.4755C>T	NM_000260.3	NP_000251.3:p.(Ser1585=)	NC_000011.9:g.76910766C>T	(Likely) benign	1 lab	d0b1b75a2b
14:23900819 MYH7 A>G	14	23900819	23900819	A	G	MYH7	c.707T>C	NM_000257.2	NP_000248.2:p.(Val236Ala)	NC_000014.8:g.23900819A>G	VUS	1 lab	d0b4178d59
11:47354172 MYBPC3 G>A	11	47354172	47354172	G	A	MYBPC3	c.3572C>T	NM_000256.3	NP_000247.2:p.(Ser1191Leu)	NC_000011.9:g.47354172G>A	VUS	1 lab	d0b48652c7
8:102656388 GRHL2 G>A	8	102656388	102656388	G	A	GRHL2	c.1547G>A	NM_024915.3	NP_079191.2:p.(Arg516Gln)	NC_000008.10:g.102656388G>A	VUS	1 lab	d0b565a1ae
3:189586386 TP63 G>A	3	189586386	189586386	G	A	TP63	c.1010G>A	NM_003722.4	NP_003713.3:p.(Arg337Gln)	NC_000003.11:g.189586386G>A	(Likely) pathogenic	1 lab	d0b6048fbc
3:38595979 SCN5A A>G	3	38595979	38595979	A	G	SCN5A	c.4604T>C	NM_198056.2	NP_932173.1:p.(Met1535Thr)	NC_000003.11:g.38595979A>G	VUS	1 lab	d0b9ebc773
12:103237479 PAH A>G	12	103237479	103237479	A	G	PAH	c.1144T>C	NM_000277.1	NP_000268.1:p.(Phe382Leu)	NC_000012.11:g.103237479A>G	(Likely) pathogenic	1 lab	d0c3b73283
X:67331725 OPHN1 C>T	X	67331725	67331725	C	T	OPHN1	c.1497G>A	NM_002547.2	NP_002538.1:p.(Met499Ile)	NC_000023.10:g.67331725C>T	(Likely) benign	1 lab	d0c5119403
8:27634627 ESCO2 G>A	8	27634627	27634627	G	A	ESCO2	c.802G>A	NM_001017420.3	NP_001017420.1:p.(Glu268Lys)	NC_000008.10:g.27634627G>A	(Likely) benign	1 lab	d0c5129fd3
18:42531914 SETBP1 G>A	18	42531914	42531914	G	A	SETBP1	c.2609G>A	NM_015559.2	NP_056374.2:p.(Gly870Asp)	NC_000018.9:g.42531914G>A	(Likely) pathogenic	1 lab	d0c68fc65b
9:117827048 TNC A>C	9	117827048	117827048	A	C	TNC	c.3365T>G	NM_002160.3	NP_002151.2:p.(Val1122Gly)	NC_000009.11:g.117827048A>C	VUS	1 lab	d0c8790fae
6:43020188 CUL7 G>A	6	43020188	43020188	G	A	CUL7	c.339C>T	NM_014780.4	NP_055595.2:p.(Asp113=)	NC_000006.11:g.43020188G>A	(Likely) benign	1 lab	d0c8ba2391
20:42788717 JPH2 G>A	20	42788717	42788717	G	A	JPH2	c.710C>T	NM_020433.4	NP_065166.2:p.(Thr237Met)	NC_000020.10:g.42788717G>A	(Likely) benign	1 lab	d0c924a855
6:47544838 CD2AP A>T	6	47544838	47544838	A	T	CD2AP	c.902A>T	NM_012120.3	NP_036252.1:p.(Lys301Met)	NC_000006.11:g.47544838A>T	(Likely) benign	1 lab	14a0469d18
11:17498233 ABCC8 G>A	11	17498233	17498233	G	A	ABCC8	c.91C>T	NM_000352.4	NP_000343.2:p.(Leu31Phe)	NC_000011.9:g.17498233G>A	VUS	1 lab	d0cb6c6be4
5:112155046 APC G>A	5	112155046	112155046	G	A	APC	c.1312+5G>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112155046G>A	(Likely) pathogenic	1 lab	d0ce00442f
5:125919529 ALDH7A1 CA>C	5	125919529	125919541	CA	C	ALDH7A1	c.393+94del	NM_001182.5	NP_001173.2:p.?	NC_000005.9:g.125919541del	(Likely) benign	1 lab	14a20d7a33
7:128478652 FLNC G>A	7	128478652	128478652	G	A	FLNC	c.1211-5G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128478652G>A	VUS	1 lab	d0d8ea499c
2:179437135 TTN T>C	2	179437135	179437135	T	C	TTN	c.73724A>G	NM_001267550.2	NP_001254479.2:p.(Lys24575Arg)	NC_000002.11:g.179437135T>C	VUS	1 lab	d0de06eda0
7:6022578 PMS2 A>G	7	6022578	6022578	A	G	PMS2	c.2051T>C	NM_000535.7	NP_000526.2:p.(Leu684Pro)	NC_000007.13:g.6022578A>G	(Likely) pathogenic	1 lab	d0e34e9e08
16:88723957 MVD CGT>C	16	88723957	88723960	CGT	C	MVD	c.288_289del	NM_002461.3	NP_002452.1:p.(Arg97GlyfsTer50)	NC_000016.9:g.88723959_88723960del	(Likely) pathogenic	1 lab	d0e6957435
3:136141449 STAG1 C>G	3	136141449	136141449	C	G	STAG1	c.1840G>C	NM_005862.3	NP_005853.2:p.(Asp614His)	NC_000003.11:g.136141449C>G	VUS	1 lab	11c06a6798
10:131506283 MGMT C>T	10	131506283	131506283	C	T	MGMT	c.250C>T	NM_002412.5	NP_002403.3:p.(Leu84Phe)	NC_000010.10:g.131506283C>T	(Likely) benign	1 lab	d0ef8115cf
15:91312741 BLM T>A	15	91312741	91312741	T	A	BLM	c.2480T>A	NM_000057.3	NP_000048.1:p.(Met827Lys)	NC_000015.9:g.91312741T>A	(Likely) pathogenic	1 lab	d0f1c80e89
7:94054465 COL1A2 G>A	7	94054465	94054465	G	A	COL1A2	c.2710G>A	NM_000089.4	NP_000080.2:p.(Gly904Arg)	NC_000007.13:g.94054465G>A	(Likely) pathogenic	1 lab	d0f4f2030f
17:42989088 GFAP C>T	17	42989088	42989088	C	T	GFAP	c.858G>A	NM_002055.4	NP_002046.1:p.(Arg286=)	NC_000017.10:g.42989088C>T	(Likely) benign	1 lab	d0f56edb04
11:686991 DEAF1 C>T	11	686991	686991	C	T	DEAF1	c.671G>A	NM_021008.3	NP_066288.2:p.(Arg224Gln)	NC_000011.9:g.686991C>T	(Likely) pathogenic	1 lab	d0f6479d5c
6:112522873 LAMA4 A>G	6	112522873	112522873	A	G	LAMA4	c.439T>C	NM_001105206.2	NP_001098676.2:p.(Tyr147His)	NC_000006.11:g.112522873A>G	(Likely) benign	1 lab	d0f80c13cd
X:49087384 CACNA1F C>T	X	49087384	49087384	C	T	CACNA1F	c.449G>A	NM_005183.4	NP_005174.2:p.(Gly150Glu)	NC_000023.10:g.49087384C>T	VUS	1 lab	d0f8bcb152
16:75681743 TERF2IP C>G	16	75681743	75681743	C	G	TERF2IP	c.-38C>G	NM_018975.3	NP_061848.2:p.?	NC_000016.9:g.75681743C>G	(Likely) benign	1 lab	d0fd968059
15:35083504 ACTC1 C>T	15	35083504	35083504	C	T	ACTC1	c.809-8G>A	NM_005159.5	NP_005150.1:p.?	NC_000015.9:g.35083504C>T	(Likely) benign	1 lab	d1016f5002
3:46900857 MYL3 G>A	3	46900857	46900857	G	A	MYL3	c.481+108C>T	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46900857G>A	(Likely) benign	1 lab	d103850559
17:57733216 CLTC TC>T	17	57733216	57733217	TC	T	CLTC	c.798del	NM_004859.4	NP_004850.1:p.(Ser267ValfsTer9)	NC_000017.10:g.57733217del	(Likely) pathogenic	1 lab	d103c5fc3c
20:42788790 JPH2 G>C	20	42788790	42788790	G	C	JPH2	c.637C>G	NM_020433.5	NP_065166.2:p.(Arg213Gly)	NC_000020.10:g.42788790G>C	(Likely) benign	1 lab	d1055fbe88
8:41800393 KAT6A AC>A	8	41800393	41800394	AC	A	KAT6A				NC_000008.10:g.41800394del	(Likely) pathogenic	1 lab	d1090bb9ac
11:118240226 UBE4A G>A	11	118240226	118240226	G	A	UBE4A	c.384G>A	NM_004788.3	NP_004779.2:p.(Trp128Ter)	NC_000011.9:g.118240226G>A	VUS	1 lab	d10a47e576
5:112175192 APC AC>A	5	112175192	112175195	AC	A	APC	c.3904del	NM_000038.6	NP_000029.2:p.(Leu1302CysfsTer3)	NC_000005.9:g.112175195del	(Likely) pathogenic	1 lab	d10e22ef92
14:91739502 CCDC88C T>TG	14	91739502	91739508	T	TG	CCDC88C	c.5553dup	NM_001080414.3	NP_001073883.2:p.(Ser1852GlnfsTer4)	NC_000014.8:g.91739508dup	(Likely) pathogenic	1 lab	d10ecdf864
6:135811810 AHI1 TCACGCATTAGATCA>T	6	135811810	135811825	TCACGCATTAGATCA	T	AHI1	c.72_85del	NM_017651.5	NP_060121.3:p.(Ser24ArgfsTer13)	NC_000006.11:g.135811812_135811825del	(Likely) pathogenic	1 lab	11c3214abe
1:40558363 PPT1 CACTT>C	1	40558363	40558369	CACTT	C	PPT1	c.125-188_125-185del	NM_000310.4	NP_000301.1:p.?	NC_000001.10:g.40558366_40558369del	(Likely) benign	1 lab	14aab8f72f
14:23245041 SLC7A7 C>A	14	23245041	23245041	C	A	SLC7A7	c.998+1G>T	NM_001126105.2	NP_001119577.1:p.?	NC_000014.8:g.23245041C>A	(Likely) pathogenic	1 lab	d159510287
18:19751439 GATA6 TT>CG	18	19751439	19751440	TT	CG	GATA6	c.334_335delinsCG	NM_005257.6	NP_005248.2:p.(Leu112Arg)	NC_000018.9:g.19751439_19751440delinsCG	VUS	1 lab	d1234fffa6
9:140674158 EHMT1 T>G	9	140674158	140674158	T	G	EHMT1	c.2264T>G	NM_024757.4	NP_079033.4:p.(Leu755Arg)	NC_000009.11:g.140674158T>G	(Likely) pathogenic	1 lab	d126401fc0
16:11219944 CLEC16A G>A	16	11219944	11219944	G	A	CLEC16A	c.2582G>A	NM_015226.3	NP_056041.1:p.(Arg861Gln)	NC_000016.9:g.11219944G>A	VUS	1 lab	11c4dd5d94
17:76127849 TMC8 T>TG	17	76127849	76127857	T	TG	TMC8	c.149+39dup	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76127857dup	(Likely) benign	1 lab	d12a122036
2:167277776 SCN7A C>T	2	167277776	167277776	C	T	SCN7A	c.3059G>A	NM_002976.3	NP_002967.2:p.(Arg1020Gln)	NC_000002.11:g.167277776C>T	(Likely) benign	1 lab	d12d855fea
2:176982222 HOXD10 G>T	2	176982222	176982222	G	T	HOXD10	c.661G>T	NM_002148.3	NP_002139.2:p.(Ala221Ser)	NC_000002.11:g.176982222G>T	(Likely) benign	1 lab	14af9c9cc0
X:38145374 RPGR C>A	X	38145374	38145374	C	A	RPGR	c.2878G>T	NM_001034853.2	NP_001030025.1:p.(Glu960Ter)	NC_000023.10:g.38145374C>A	(Likely) pathogenic	1 lab	d131e83076
4:6303835 WFS1 C>G	4	6303835	6303835	C	G	WFS1	c.2313C>G	NM_006005.3	NP_005996.2:p.(Asp771Glu)	NC_000004.11:g.6303835C>G	VUS	1 lab	d1320c1e60
3:189586418 TP63 C>T	3	189586418	189586418	C	T	TP63	c.1042C>T	NM_003722.4	NP_003713.3:p.(Pro348Ser)	NC_000003.11:g.189586418C>T	(Likely) pathogenic	1 lab	d1347b7fb1
17:18039741 MYO15A G>T	17	18039741	18039741	G	T	MYO15A	c.4607G>T	NM_016239.3	NP_057323.3:p.(Arg1536Leu)	NC_000017.10:g.18039741G>T	VUS	1 lab	d13570bee6
3:10183797 VHL T>A	3	10183797	10183797	T	A	VHL	c.266T>A	NM_000551.3	NP_000542.1:p.(Leu89His)	NC_000003.11:g.10183797T>A	(Likely) pathogenic	1 lab	d136276fd2
13:100637785 ZIC2 G>A	13	100637785	100637785	G	A	ZIC2	c.1448G>A	NM_007129.3	NP_009060.2:p.(Gly483Asp)	NC_000013.10:g.100637785G>A	VUS	1 lab	d1384c4a94
2:48030558 MSH6 G>C	2	48030558	48030558	G	C	MSH6	c.3173-1G>C	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48030558G>C	(Likely) pathogenic	1 lab	d1393fc4ca
4:79373254 FRAS1 T>C	4	79373254	79373254	T	C	FRAS1	c.6584-75T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79373254T>C	(Likely) benign	1 lab	339d14b278
17:17118512 FLCN TACAGGGCTCCC>T	17	17118512	17118525	TACAGGGCTCCC	T	FLCN	c.1408_1418del	NM_144997.5	NP_659434.2:p.(Gly470SerfsTer12)	NC_000017.10:g.17118515_17118525del	(Likely) pathogenic	1 lab	d139793771
3:50404342 CACNA2D2 C>T	3	50404342	50404342	C	T	CACNA2D2	c.2509G>A	NM_006030.3	NP_006021.2:p.(Val837Ile)	NC_000003.11:g.50404342C>T	VUS	1 lab	d13a2f2137
5:112043296 APC G>A	5	112043296	112043296	G	A	APC	c.-119G>A	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043296G>A	(Likely) benign	1 lab	d13ae6f5d5
1:241671932 FH G>A	1	241671932	241671932	G	A	FH	c.709C>T	NM_000143.3	NP_000134.2:p.(Gln237Ter)	NC_000001.10:g.241671932G>A	(Likely) pathogenic	1 lab	d13bfdfae5
8:126079969 WASHC5 C>T	8	126079969	126079969	C	T	WASHC5	c.1151-8G>A	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126079969C>T	(Likely) benign	1 lab	d13e96935c
17:10543505 MYH3 C>A	17	10543505	10543505	C	A	MYH3	c.2490G>T	NM_002470.3	NP_002461.2:p.(Trp830Cys)	NC_000017.10:g.10543505C>A	(Likely) pathogenic	1 lab	d142c07c59
1:201031219 CACNA1S C>T	1	201031219	201031219	C	T	CACNA1S	c.2907-1G>A	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201031219C>T	(Likely) pathogenic	1 lab	d143cacbb7
17:60088392 MED13 T>A	17	60088392	60088392	T	A	MED13	c.1486A>T	NM_005121.2	NP_005112.2:p.(Arg496Ter)	NC_000017.10:g.60088392T>A	(Likely) pathogenic	1 lab	d1479165b0
22:17581379 IL17RA C>T	22	17581379	17581379	C	T	IL17RA				NC_000022.10:g.17581379C>T	VUS	1 lab	d147e7e65b
5:233730 SDHA G>A	5	233730	233730	G	A	SDHA	c.1034G>A	NM_004168.4	NP_004159.2:p.(Arg345Gln)	NC_000005.9:g.233730G>A	VUS	1 lab	d17ea60383
1:202711844 KDM5B G>GT	1	202711844	202711845	G	GT	KDM5B	c.2520dup	NM_001314042.1	NP_001300971.1:p.(Gln841ThrfsTer15)	NC_000001.10:g.202711845dup	(Likely) pathogenic	1 lab	d14840d224
17:41243835 BRCA1 G>A	17	41243835	41243835	G	A	BRCA1	c.3713C>T	NM_007294.3	NP_009225.1:p.(Pro1238Leu)	NC_000017.10:g.41243835G>A	(Likely) benign	1 lab	d1489f6794
2:179474152 TTN C>A	2	179474152	179474152	C	A	TTN	c.51885G>T	NM_001267550.2	NP_001254479.2:p.(Lys17295Asn)	NC_000002.11:g.179474152C>A	VUS	1 lab	d1493b784d
17:62492767 POLG2 C>T	17	62492767	62492767	C	T	POLG2				NC_000017.10:g.62492767C>T	VUS	1 lab	d14a0324d9
12:58160653 CYP27B1 G>GC	12	58160653	58160660	G	GC	CYP27B1	c.171dup	NM_000785.4	NP_000776.1:p.(Leu58AlafsTer275)	NC_000012.11:g.58160660dup	(Likely) pathogenic	1 lab	d15178e333
1:215847707 USH2A C>T	1	215847707	215847707	C	T	USH2A	c.13546G>A	NM_206933.4	NP_996816.3:p.(Gly4516Arg)	NC_000001.10:g.215847707C>T	VUS	1 lab	d152129fef
14:51081115 ATL1 C>G	14	51081115	51081115	C	G	ATL1	c.748C>G	NM_015915.4	NP_056999.2:p.(Leu250Val)	NC_000014.8:g.51081115C>G	VUS	1 lab	d1527715e1
17:41219671 BRCA1 T>C	17	41219671	41219671	T	C	BRCA1	c.5028A>G	NM_007294.4	NP_009225.1:p.(Leu1676=)	NC_000017.10:g.41219671T>C	(Likely) benign	1 lab	d152e16b3b
5:90459647 ADGRV1 A>G	5	90459647	90459647	A	G	ADGRV1	c.18851A>G	NM_032119.3	NP_115495.3:p.(Glu6284Gly)	NC_000005.9:g.90459647A>G	VUS	1 lab	d1534405f0
9:101900288 TGFBR1 C>T	9	101900288	101900288	C	T	TGFBR1	c.722C>T	NM_004612.4	NP_004603.1:p.(Ser241Leu)	NC_000009.11:g.101900288C>T	(Likely) pathogenic	1 lab	339d46c5a2
2:191874662 STAT1 T>A	2	191874662	191874662	T	A	STAT1	c.68A>T	NM_007315.3	NP_009330.1:p.(Asp23Val)	NC_000002.11:g.191874662T>A	(Likely) pathogenic	1 lab	d157901023
4:140297601 NAA15 T>C	4	140297601	140297601	T	C	NAA15	c.2030T>C	NM_057175.4	NP_476516.1:p.(Phe677Ser)	NC_000004.11:g.140297601T>C	VUS	1 lab	d158981de6
7:100244378 MISSING C>A	7	100244378	100244378	C	A	MISSING				NC_000007.13:g.100244378C>A	VUS	1 lab	d3189a1d0b
1:41285931 KCNQ4 A>G	1	41285931	41285931	A	G	KCNQ4	c.1040A>G	NM_004700.3	NP_004691.2:p.(Gln347Arg)	NC_000001.10:g.41285931A>G	VUS	1 lab	d15b8e9a38
1:197404412 CRB1 T>A	1	197404412	197404412	T	A	CRB1	c.3419T>A	NM_201253.2	NP_957705.1:p.(Leu1140Ter)	NC_000001.10:g.197404412T>A	(Likely) pathogenic	1 lab	d15bab7371
1:3350321 PRDM16 G>T	1	3350321	3350321	G	T	PRDM16	c.3777G>T	NM_022114.3	NP_071397.3:p.(Lys1259Asn)	NC_000001.10:g.3350321G>T	(Likely) benign	1 lab	d15c2cc40b
9:139410126 NOTCH1 T>G	9	139410126	139410126	T	G	NOTCH1	c.1712A>C	NM_017617.3	NP_060087.3:p.(Asp571Ala)	NC_000009.11:g.139410126T>G	(Likely) benign	1 lab	d15dcc6397
19:12976253 MAST1 T>G	19	12976253	12976253	T	G	MAST1	c.1762T>G	NM_014975.3	NP_055790.1:p.(Phe588Val)	NC_000019.9:g.12976253T>G	(Likely) pathogenic	1 lab	d15e303239
12:112888140 PTPN11 C>T	12	112888140	112888140	C	T	PTPN11	c.156C>T	NM_002834.3	NP_002825.3:p.(Thr52=)	NC_000012.11:g.112888140C>T	(Likely) benign	1 lab	d15f4db27d
5:14871560 ANKH C>T	5	14871560	14871560	C	T	ANKH	c.-4G>A	NM_054027.4	NP_473368.1:p.?	NC_000005.9:g.14871560C>T	VUS	1 lab	ede5eb24c8
2:179644759 TTN T>A	2	179644759	179644759	T	A	TTN	c.3697A>T	NM_001267550.2	NP_001254479.2:p.(Thr1233Ser)	NC_000002.11:g.179644759T>A	VUS	1 lab	d15f8bbaea
20:25297700 ABHD12 C>G	20	25297700	25297700	C	G	ABHD12	c.557G>C	NM_001042472.2	NP_001035937.1:p.(Arg186Pro)	NC_000020.10:g.25297700C>G	VUS	1 lab	d160fa000f
2:74605210 DCTN1 T>C	2	74605210	74605210	T	C	DCTN1	c.196A>G	NM_004082.4	NP_004073.2:p.(Lys66Glu)	NC_000002.11:g.74605210T>C	VUS	1 lab	d16613553e
X:41089829 USP9X C>T	X	41089829	41089829	C	T	USP9X	c.7555C>T	NM_001039590.2	NP_001034679.2:p.(Pro2519Ser)	NC_000023.10:g.41089829C>T	(Likely) benign	1 lab	d16ac5440b
12:52201149 SCN8A G>A	12	52201149	52201149	G	A	SCN8A	c.5879G>A	NM_014191.3	NP_055006.1:p.(Arg1960Gln)	NC_000012.11:g.52201149G>A	(Likely) benign	1 lab	d16ddbda25
2:176957822 HOXD13 G>GCGGCA	2	176957822	176957823	G	GCGGCA	HOXD13	c.204_205insCGGCA	NM_000523.4	NP_000514.2:p.(Ala69ArgfsTer29)	NC_000002.11:g.176957822_176957823insCGGCA	VUS	1 lab	11cabe90e3
2:165986509 SCN3A C>A	2	165986509	165986509	C	A	SCN3A	c.2863G>T	NM_006922.4	NP_008853.3:p.(Ala955Ser)	NC_000002.11:g.165986509C>A	VUS	1 lab	11ccdc16f8
3:119120819 ARHGAP31 C>A	3	119120819	119120819	C	A	ARHGAP31	c.1220C>A	NM_020754.4	NP_065805.2:p.(Ala407Asp)	NC_000003.11:g.119120819C>A	VUS	1 lab	d16fb67f79
14:74971806 LTBP2 G>GC	14	74971806	74971809	G	GC	LTBP2	c.4248dup	NM_000428.2	NP_000419.1:p.(Gln1417AlafsTer19)	NC_000014.8:g.74971809dup	(Likely) pathogenic	1 lab	d1716b19b4
3:37089281 MLH1 C>T	3	37089281	37089281	C	T	MLH1	c.1896+107C>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37089281C>T	(Likely) benign	1 lab	d17246e4eb
17:41244550 BRCA1 C>T	17	41244550	41244550	C	T	BRCA1	c.2998G>A	NM_007294.3	NP_009225.1:p.(Glu1000Lys)	NC_000017.10:g.41244550C>T	(Likely) benign	1 lab	d17a164d98
1:91406407 ZNF644 T>A	1	91406407	91406407	T	A	ZNF644	c.504A>T	NM_201269.3	NP_958357.1:p.(Lys168Asn)	NC_000001.10:g.91406407T>A	VUS	1 lab	d17a41d7c1
8:10466402 RP1L1 G>A	8	10466402	10466402	G	A	RP1L1	c.5206C>T	NM_178857.5	NP_849188.4:p.(Gln1736Ter)	NC_000008.10:g.10466402G>A	(Likely) pathogenic	1 lab	d17b783e42
3:38770197 SCN10A C>T	3	38770197	38770197	C	T	SCN10A	c.2476G>A	NM_006514.3	NP_006505.3:p.(Asp826Asn)	NC_000003.11:g.38770197C>T	(Likely) benign	1 lab	d17c39e67c
13:25487103 CENPJ T>C	13	25487103	25487103	T	C	CENPJ				NC_000013.10:g.25487103T>C	(Likely) benign	1 lab	d23ab260d7
3:142212156 ATR A>G	3	142212156	142212156	A	G	ATR	c.5899-3T>C	NM_001184.4	NP_001175.2:p.?	NC_000003.11:g.142212156A>G	(Likely) benign	1 lab	11cf692845
X:54841892 MAGED2 C>T	X	54841892	54841892	C	T	MAGED2	c.1598C>T	NM_177433.3	NP_803182.1:p.(Ala533Val)	NC_000023.10:g.54841892C>T	(Likely) pathogenic	1 lab	d17ea6201d
17:41219641 BRCA1 A>T	17	41219641	41219641	A	T	BRCA1	c.5058T>A	NM_007294.3	NP_009225.1:p.(His1686Gln)	NC_000017.10:g.41219641A>T	(Likely) pathogenic	1 lab	14b6e2a93b
2:48026448 MSH6 T>C	2	48026448	48026448	T	C	MSH6	c.1326T>C	NM_000179.3	NP_000170.1:p.(Ile442=)	NC_000002.11:g.48026448T>C	(Likely) benign	1 lab	d182ee3a50
18:2795944 SMCHD1 C>G	18	2795944	2795944	C	G	SMCHD1	c.5720-3C>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2795944C>G	VUS	1 lab	d183363049
10:69933828 MYPN C>G	10	69933828	69933828	C	G	MYPN	c.1979C>G	NM_032578.3	NP_115967.2:p.(Ser660Cys)	NC_000010.10:g.69933828C>G	VUS	1 lab	14b6f022cc
1:228468120 OBSCN C>T	1	228468120	228468120	C	T	OBSCN	c.9191C>T	NM_001271223.2	NP_001258152.2:p.(Ser3064Leu)	NC_000001.10:g.228468120C>T	(Likely) benign	1 lab	d18408f158
15:77325220 PSTPIP1 A>G	15	77325220	77325220	A	G	PSTPIP1	c.856A>G	NM_003978.3	NP_003969.2:p.(Asn286Asp)	NC_000015.9:g.77325220A>G	(Likely) benign	1 lab	14b7edff5f
10:55582765 PCDH15 C>T	10	55582765	55582765	C	T	PCDH15	c.4721G>A	NM_033056.4	NP_149045.3:p.(Trp1574Ter)	NC_000010.10:g.55582765C>T	VUS	1 lab	d184c0e1b7
7:150656781 KCNH2 G>A	7	150656781	150656781	G	A	KCNH2	c.351C>T	NM_000238.3	NP_000229.1:p.(Asn117=)	NC_000007.13:g.150656781G>A	(Likely) benign	1 lab	d1854d7f65
16:31500054 SLC5A2 G>A	16	31500054	31500054	G	A	SLC5A2	c.1241G>A	NM_003041.3	NP_003032.1:p.(Arg414Gln)	NC_000016.9:g.31500054G>A	VUS	1 lab	d18794d2a2
20:36641366 TTI1 C>T	20	36641366	36641366	C	T	TTI1	c.853G>A	NM_014657.3	NP_055472.1:p.(Asp285Asn)	NC_000020.10:g.36641366C>T	VUS	1 lab	11d50db900
16:75512684 CHST6 A>C	16	75512684	75512684	A	C	CHST6	c.1043T>G	NM_021615.5	NP_067628.1:p.(Leu348Arg)	NC_000016.9:g.75512684A>C	VUS	1 lab	11d56cc5e9
12:56567636 SMARCC2 G>C	12	56567636	56567636	G	C	SMARCC2				NC_000012.11:g.56567636G>C	VUS	1 lab	d190b4021c
11:108117879 ATM T>C	11	108117879	108117879	T	C	ATM	c.1065+25T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108117879T>C	(Likely) benign	1 lab	d190c6eee6
17:4804140 CHRNE G>A	17	4804140	4804140	G	A	CHRNE	c.865C>T	NM_000080.3	NP_000071.1:p.(Leu289Phe)	NC_000017.10:g.4804140G>A	(Likely) pathogenic	1 lab	d1933a1c89
1:165180014 LMX1A C>A	1	165180014	165180014	C	A	LMX1A	c.670-1G>T	NM_177398.4	NP_796372.1:p.?	NC_000001.10:g.165180014C>A	VUS	1 lab	d194de9eff
16:24124353 PRKCB G>A	16	24124353	24124353	G	A	PRKCB	c.881G>A	NM_212535.3	NP_997700.1:p.(Gly294Glu)	NC_000016.9:g.24124353G>A	VUS	1 lab	d198d8e4a3
18:48593536 SMAD4 C>CT	18	48593536	48593537	C	CT	SMAD4	c.1288dup	NM_005359.6	NP_005350.1:p.(Tyr430LeufsTer10)	NC_000018.9:g.48593537dup	(Likely) pathogenic	1 lab	d1997915d0
13:32913164 BRCA2 AG>A	13	32913164	32913165	AG	A	BRCA2	c.4673del	NM_000059.3	NP_000050.2:p.(Ser1558IlefsTer10)	NC_000013.10:g.32913165del	(Likely) pathogenic	1 lab	d199d24178
1:16260836 SPEN AC>A	1	16260836	16260837	AC	A	SPEN	c.8102del	NM_015001.3	NP_055816.2:p.(Thr2701ArgfsTer4)	NC_000001.10:g.16260837del	(Likely) pathogenic	1 lab	d19b8b54c9
6:7578819 DSP T>G	6	7578819	7578819	T	G	DSP	c.3084+24T>G	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7578819T>G	(Likely) benign	1 lab	d1a02cf6c1
2:48033685 MSH6 G>A	2	48033685	48033685	G	A	MSH6	c.3896G>A	NM_000179.2	NP_000170.1:p.(Gly1299Asp)	NC_000002.11:g.48033685G>A	VUS	1 lab	d1a07bf32d
13:32893268 BRCA2 C>T	13	32893268	32893268	C	T	BRCA2	c.122C>T	NM_000059.4	NP_000050.3:p.(Pro41Leu)	NC_000013.10:g.32893268C>T	(Likely) benign	1 lab	d1a098b198
16:2156850 PKD1 A>G	16	2156850	2156850	A	G	PKD1	c.7165T>C	NM_001009944.2	NP_001009944.2:p.(Leu2389=)	NC_000016.9:g.2156850A>G	(Likely) benign	1 lab	d1a184d6b2
17:41197404 BRCA1 G>A	17	41197404	41197404	G	A	BRCA1	c.*291C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197404G>A	(Likely) benign	1 lab	d1a258bbd7
8:22886020 TNFRSF10B A>G	8	22886020	22886020	A	G	TNFRSF10B	c.572T>C	NM_003842.4	NP_003833.4:p.(Val191Ala)	NC_000008.10:g.22886020A>G	(Likely) benign	1 lab	d1a3e61033
1:17349129 SDHB T>C	1	17349129	17349129	T	C	SDHB	c.739A>G	NM_003000.3	NP_002991.2:p.(Met247Val)	NC_000001.10:g.17349129T>C	VUS	1 lab	20ae04ede3
9:95481208 BICD2 G>T	9	95481208	95481208	G	T	BICD2	c.1719C>A	NM_001003800.1	NP_001003800.1:p.(Thr573=)	NC_000009.11:g.95481208G>T	(Likely) benign	1 lab	d1a481dd06
4:187201419 F11 G>A	4	187201419	187201419	G	A	F11	c.908G>A	NM_000128.3	NP_000119.1:p.(Gly303Glu)	NC_000004.11:g.187201419G>A	VUS	1 lab	d1a49f0151
16:8898694 PMM2 T>C	16	8898694	8898694	T	C	PMM2	c.249T>C	NM_000303.3	NP_000294.1:p.(Cys83=)	NC_000016.9:g.8898694T>C	VUS	1 lab	d23b1d733b
6:33146146 COL11A2 C>T	6	33146146	33146146	C	T	COL11A2	c.1774-17G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33146146C>T	(Likely) benign	1 lab	d1a5552cfd
1:78407884 NEXN A>C	1	78407884	78407884	A	C	NEXN	c.1650A>C	NM_144573.3	NP_653174.3:p.(Ala550=)	NC_000001.10:g.78407884A>C	(Likely) benign	1 lab	d1a7ae0a48
6:33411084 SYNGAP1 C>T	6	33411084	33411084	C	T	SYNGAP1	c.2755C>T	NM_006772.2	NP_006763.2:p.(Gln919Ter)	NC_000006.11:g.33411084C>T	(Likely) pathogenic	1 lab	d1a8798e89
1:196918739 CFHR2 G>A	1	196918739	196918739	G	A	CFHR2	c.213G>A	NM_005666.3	NP_005657.1:p.(Thr71=)	NC_000001.10:g.196918739G>A	(Likely) benign	1 lab	d1adc55b0b
22:43015959 CYB5R3 G>A	22	43015959	43015959	G	A	CYB5R3	c.734-8C>T	NM_000398.7	NP_000389.1:p.?	NC_000022.10:g.43015959G>A	(Likely) benign	1 lab	14bf1f20f0
17:72889649 FADS6 C>CGGTTCCATGGGCTCCGTA	17	72889649	72889684	C	CGGTTCCATGGGCTCCGTA	FADS6	c.81_98dup	NM_178128.6	NP_835229.3:p.(Thr28_Pro33dup)	NC_000017.10:g.72889667_72889684dup	VUS	1 lab	11d927f36c
16:81953245 PLCG2 C>T	16	81953245	81953245	C	T	PLCG2	c.2211C>T	NM_002661.3	NP_002652.2:p.(Pro737=)	NC_000016.9:g.81953245C>T	(Likely) benign	1 lab	14c20101fc
1:216498947 USH2A G>T	1	216498947	216498947	G	T	USH2A				NC_000001.10:g.216498947G>T	VUS	1 lab	d1b398b26e
3:58120453 FLNB T>C	3	58120453	58120453	T	C	FLNB	c.4625T>C	NM_001457.3	NP_001448.2:p.(Ile1542Thr)	NC_000003.11:g.58120453T>C	(Likely) pathogenic	1 lab	d1b3f33f33
2:48010255 MSH6 G>A	2	48010255	48010255	G	A	MSH6				NC_000002.11:g.48010255G>A	(Likely) benign	1 lab	d1b84a6655
1:3102792 PRDM16 C>T	1	3102792	3102792	C	T	PRDM16	c.141C>T	NM_022114.3	NP_071397.3:p.(Pro47=)	NC_000001.10:g.3102792C>T	(Likely) benign	1 lab	d1be606785
3:38986981 SCN11A C>T	3	38986981	38986981	C	T	SCN11A	c.409G>A	NM_001349253.2	NP_001336182.1:p.(Gly137Ser)	NC_000003.11:g.38986981C>T	(Likely) benign	1 lab	d1bea3fd54
X:48339705 FTSJ1 A>T	X	48339705	48339705	A	T	FTSJ1	c.443A>T	NM_012280.3	NP_036412.1:p.(Lys148Met)	NC_000023.10:g.48339705A>T	VUS	1 lab	d1bf6c3eaa
15:40699906 IVD A>C	15	40699906	40699906	A	C	IVD	c.223A>C	NM_002225.3	NP_002216.2:p.(Asn75His)	NC_000015.9:g.40699906A>C	VUS	1 lab	d1c04d3fec
2:179392334 TTN G>C	2	179392334	179392334	G	C	TTN	c.107519C>G	NM_001267550.2	NP_001254479.2:p.(Ala35840Gly)	NC_000002.11:g.179392334G>C	(Likely) benign	1 lab	d1c07c1663
16:23614849 PALB2 C>A	16	23614849	23614849	C	A	PALB2	c.3492G>T	NM_024675.3	NP_078951.2:p.(Trp1164Cys)	NC_000016.9:g.23614849C>A	(Likely) benign	1 lab	d1c51baeab
1:228475607 OBSCN C>T	1	228475607	228475607	C	T	OBSCN	c.11044C>T	NM_001271223.2	NP_001258152.2:p.(Arg3682Trp)	NC_000001.10:g.228475607C>T	(Likely) benign	1 lab	d1c8124410
10:96064339 PLCE1 T>G	10	96064339	96064339	T	G	PLCE1	c.5559T>G	NM_016341.3	NP_057425.3:p.(Tyr1853Ter)	NC_000010.10:g.96064339T>G	(Likely) pathogenic	1 lab	d1c9ce6b37
12:102182336 GNPTAB T>C	12	102182336	102182336	T	C	GNPTAB	c.355A>G	NM_024312.4	NP_077288.2:p.(Thr119Ala)	NC_000012.11:g.102182336T>C	VUS	1 lab	d1ca27c5d6
18:29078254 DSG2 C>T	18	29078254	29078254	C	T	DSG2	c.40C>T	NM_001943.5	NP_001934.2:p.(Leu14Phe)	NC_000018.9:g.29078254C>T	(Likely) benign	1 lab	d1ccdf8ec5
11:17656671 OTOG C>T	11	17656671	17656671	C	T	OTOG	c.7666C>T	NM_001277269.2	NP_001264198.1:p.(Arg2556Ter)	NC_000011.9:g.17656671C>T	(Likely) pathogenic	1 lab	d1d50e46d6
10:88679149 BMPR1A A>G	10	88679149	88679149	A	G	BMPR1A	c.1089A>G	NM_004329.2	NP_004320.2:p.(Leu363=)	NC_000010.10:g.88679149A>G	(Likely) benign	1 lab	d1d599ff79
20:33580986 MYH7B G>A	20	33580986	33580986	G	A	MYH7B	c.2391G>A	NM_020884.4	NP_065935.3:p.(Ser797=)	NC_000020.10:g.33580986G>A	(Likely) benign	1 lab	d1d5c39c3e
10:8100727 GATA3 T>TC	10	8100727	8100734	T	TC	GATA3	c.708dup	NM_001002295.1	NP_001002295.1:p.(Ser237GlnfsTer67)	NC_000010.10:g.8100734dup	(Likely) pathogenic	1 lab	d1dae113b5
20:3063802 AVP C>A	20	3063802	3063802	C	A	AVP	c.143G>T	NM_000490.5	NP_000481.2:p.(Gly48Val)	NC_000020.10:g.3063802C>A	(Likely) pathogenic	1 lab	d1de849571
1:3319465 PRDM16 G>A	1	3319465	3319465	G	A	PRDM16	c.787G>A	NM_022114.3	NP_071397.3:p.(Gly263Ser)	NC_000001.10:g.3319465G>A	(Likely) benign	1 lab	d1dfee572c
2:108622563 SLC5A7 C>T	2	108622563	108622563	C	T	SLC5A7	c.800C>T	NM_021815.4	NP_068587.1:p.(Ala267Val)	NC_000002.11:g.108622563C>T	VUS	1 lab	d1e3d6b9f0
2:113500340 CKAP2L G>A	2	113500340	113500340	G	A	CKAP2L	c.1765C>T	NM_152515.5	NP_689728.3:p.(Gln589Ter)	NC_000002.11:g.113500340G>A	(Likely) pathogenic	1 lab	d1e4871814
1:151379710 POGZ C>T	1	151379710	151379710	C	T	POGZ	c.2432+1G>A	NM_015100.3	NP_055915.2:p.?	NC_000001.10:g.151379710C>T	(Likely) pathogenic	1 lab	d1e6fe8997
11:61725631 BEST1 C>T	11	61725631	61725631	C	T	BEST1	c.728C>T	NM_004183.4	NP_004174.1:p.(Ala243Val)	NC_000011.9:g.61725631C>T	(Likely) pathogenic	1 lab	d1e782b75b
7:73466263 ELN C>T	7	73466263	73466263	C	T	ELN	c.899C>T	NM_000501.3	NP_000492.2:p.(Thr300Ile)	NC_000007.13:g.73466263C>T	(Likely) benign	1 lab	d1e81e1bc2
2:165947144 SCN3A G>A	2	165947144	165947144	G	A	SCN3A	c.5519C>T	NM_006922.4	NP_008853.3:p.(Pro1840Leu)	NC_000002.11:g.165947144G>A	VUS	1 lab	11e53e3505
11:61722627 BEST1 G>C	11	61722627	61722627	G	C	BEST1	c.201G>C	NM_004183.3	NP_004174.1:p.(Leu67=)	NC_000011.9:g.61722627G>C	(Likely) benign	1 lab	d1eb35a475
3:48626783 COL7A1 G>A	3	48626783	48626783	G	A	COL7A1	c.2291C>T	NM_000094.4	NP_000085.1:p.(Pro764Leu)	NC_000003.11:g.48626783G>A	VUS	1 lab	11e7f6986e
10:69281600 CTNNA3 C>T	10	69281600	69281600	C	T	CTNNA3	c.579G>A	NM_013266.3	NP_037398.2:p.(Gln193=)	NC_000010.10:g.69281600C>T	VUS	1 lab	d1f10f9b10
19:14024452 CC2D1A G>T	19	14024452	14024452	G	T	CC2D1A	c.748+1G>T	NM_017721.4	NP_060191.3:p.?	NC_000019.9:g.14024452G>T	(Likely) pathogenic	1 lab	d1f81e2ccc
X:107811859 COL4A5 G>C	X	107811859	107811859	G	C	COL4A5	c.277G>C	NM_033380.3	NP_203699.1:p.(Gly93Arg)	NC_000023.10:g.107811859G>C	(Likely) pathogenic	1 lab	d1f96040ef
6:65098720 EYS G>A	6	65098720	65098720	G	A	EYS	c.5941C>T	NM_001142800.1	NP_001136272.1:p.(Pro1981Ser)	NC_000006.11:g.65098720G>A	VUS	1 lab	d1fa8f1aeb
17:18043945 MYO15A C>T	17	18043945	18043945	C	T	MYO15A	c.5326C>T	NM_016239.3	NP_057323.3:p.(Gln1776Ter)	NC_000017.10:g.18043945C>T	(Likely) pathogenic	1 lab	d1fea3f2cb
2:197084830 HECW2 T>A	2	197084830	197084830	T	A	HECW2	c.4341A>T	NM_020760.4	NP_065811.1:p.(Glu1447Asp)	NC_000002.11:g.197084830T>A	VUS	1 lab	11e913ef03
17:18061830 MYO15A T>C	17	18061830	18061830	T	C	MYO15A	c.8968-7T>C	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18061830T>C	(Likely) benign	1 lab	d2078ef13e
3:48606873 COL7A1 G>A	3	48606873	48606873	G	A	COL7A1	c.7621C>T	NM_000094.4	NP_000085.1:p.(Arg2541Ter)	NC_000003.11:g.48606873G>A	(Likely) pathogenic	1 lab	11e9a5abfc
6:31846718 SLC44A4 C>G	6	31846718	31846718	C	G	SLC44A4	c.40G>C	NM_025257.2	NP_079533.2:p.(Gly14Arg)	NC_000006.11:g.31846718C>G	VUS	1 lab	d20b553c56
6:137193320 PEX7 C>T	6	137193320	137193320	C	T	PEX7	c.748-16C>T	NM_000288.3	NP_000279.1:p.?	NC_000006.11:g.137193320C>T	(Likely) benign	1 lab	d20bd0a2fa
2:10581940 ODC1 T>C	2	10581940	10581940	T	C	ODC1	c.1026+3A>G	NM_002539.3	NP_002530.1:p.?	NC_000002.11:g.10581940T>C	VUS	1 lab	20aea84656
7:97481701 ASNS C>T	7	97481701	97481701	C	T	ASNS	c.1556G>A	NM_183356.3	NP_899199.2:p.(Arg519His)	NC_000007.13:g.97481701C>T	VUS	1 lab	d20c9dbd25
17:56787364 RAD51C T>C	17	56787364	56787364	T	C	RAD51C	c.837+13T>C	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56787364T>C	(Likely) benign	1 lab	d20ec8dd52
17:29560064 NF1 GA>G	17	29560064	29560066	GA	G	NF1	c.3543del	NM_001042492.3	NP_001035957.1:p.(Val1182PhefsTer2)	NC_000017.10:g.29560066del	(Likely) pathogenic	1 lab	d20fb07225
12:15734642 PTPRO G>A	12	15734642	15734642	G	A	PTPRO				NC_000012.11:g.15734642G>A	(Likely) benign	1 lab	d78af0ea9b
1:160098543 ATP1A2 G>A	1	160098543	160098543	G	A	ATP1A2	c.1119G>A	NM_000702.3	NP_000693.1:p.(Ser373=)	NC_000001.10:g.160098543G>A	(Likely) benign	1 lab	d215d37ae9
11:108121458 ATM G>C	11	108121458	108121458	G	C	ATM	c.1266G>C	NM_000051.4	NP_000042.3:p.(Lys422Asn)	NC_000011.9:g.108121458G>C	VUS	1 lab	d216da6b3d
18:33779821 MOCOS C>A	18	33779821	33779821	C	A	MOCOS	c.475C>A	NM_017947.2	NP_060417.2:p.(Arg159=)	NC_000018.9:g.33779821C>A	(Likely) benign	1 lab	d21896c7ae
8:10467967 RP1L1 C>G	8	10467967	10467967	C	G	RP1L1	c.3641G>C	NM_178857.5	NP_849188.4:p.(Ser1214Thr)	NC_000008.10:g.10467967C>G	VUS	1 lab	d21bb67ee1
20:10637076 JAG1 T>C	20	10637076	10637076	T	C	JAG1	c.725A>G	NM_000214.3	NP_000205.1:p.(His242Arg)	NC_000020.10:g.10637076T>C	VUS	1 lab	d21c3e5e95
10:97602091 ENTPD1 T>C	10	97602091	97602091	T	C	ENTPD1	c.263-10T>C	NM_001776.6	NP_001767.3:p.?	NC_000010.10:g.97602091T>C	(Likely) benign	1 lab	11e9efd9e1
2:168114504 XIRP2 G>A	2	168114504	168114504	G	A	XIRP2	c.*177G>A	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168114504G>A	(Likely) benign	1 lab	d21d808a3e
12:50349338 AQP2 C>T	12	50349338	50349338	C	T	AQP2				NC_000012.11:g.50349338C>T	(Likely) pathogenic	1 lab	d2214bf60e
1:226127578 LEFTY2 G>A	1	226127578	226127578	G	A	LEFTY2	c.375C>T	NM_003240.5	NP_003231.2:p.(Val125=)	NC_000001.10:g.226127578G>A	(Likely) benign	1 lab	14c402a549
2:241724483 KIF1A T>C	2	241724483	241724483	T	C	KIF1A	c.643A>G	NM_001244008.2	NP_001230937.1:p.(Ser215Gly)	NC_000002.11:g.241724483T>C	VUS	1 lab	d223bcb5c0
6:29910716 HLA-A C>G	6	29910716	29910716	C	G	HLA-A	c.256C>G	NM_002116.8	NP_002107.3:p.(Gln86Glu)	NC_000006.11:g.29910716C>G	(Likely) benign	1 lab	11eedaf621
11:31823275 PAX6 C>G	11	31823275	31823275	C	G	PAX6	c.191G>C	NM_000280.4	NP_000271.1:p.(Gly64Ala)	NC_000011.9:g.31823275C>G	VUS	1 lab	d226d70d1e
13:27828365 RPL21 C>A	13	27828365	27828365	C	A	RPL21	c.76C>A	NM_000982.3	NP_000973.2:p.(Pro26Thr)	NC_000013.10:g.27828365C>A	VUS	1 lab	d228151e51
11:76885889 MYO7A C>T	11	76885889	76885889	C	T	MYO7A	c.2023C>T	NM_000260.3	NP_000251.3:p.(Arg675Cys)	NC_000011.9:g.76885889C>T	VUS	1 lab	d22ab3b355
16:23641592 PALB2 T>G	16	23641592	23641592	T	G	PALB2	c.1883A>C	NM_024675.4	NP_078951.2:p.(Lys628Thr)	NC_000016.9:g.23641592T>G	VUS	1 lab	11f33ea40d
11:101347093 TRPC6 A>G	11	101347093	101347093	A	G	TRPC6	c.1683T>C	NM_004621.5	NP_004612.2:p.(Asn561=)	NC_000011.9:g.101347093A>G	(Likely) benign	1 lab	d230b8024c
10:103990602 PITX3 G>C	10	103990602	103990602	G	C	PITX3	c.578C>G	NM_005029.3	NP_005020.1:p.(Ser193Cys)	NC_000010.10:g.103990602G>C	VUS	1 lab	d233bc4489
14:21873449 CHD8 C>A	14	21873449	21873449	C	A	CHD8	c.3226G>T	NM_001170629.1	NP_001164100.1:p.(Ala1076Ser)	NC_000014.8:g.21873449C>A	(Likely) pathogenic	1 lab	d23802c8a8
14:66188600 FUT8 C>T	14	66188600	66188600	C	T	FUT8	c.943C>T	NM_178155.2	NP_835368.1:p.(Arg315Ter)	NC_000014.8:g.66188600C>T	VUS	1 lab	d23908fb76
1:41285626 KCNQ4 T>C	1	41285626	41285626	T	C	KCNQ4	c.914T>C	NM_004700.4	NP_004691.2:p.(Leu305Ser)	NC_000001.10:g.41285626T>C	VUS	1 lab	d23c26496c
19:33355058 SLC7A9 T>C	19	33355058	33355058	T	C	SLC7A9	c.422A>G	NM_014270.5	NP_055085.1:p.(Tyr141Cys)	NC_000019.9:g.33355058T>C	VUS	1 lab	d2430c5f10
1:1469341 ATAD3A C>T	1	1469341	1469341	C	T	ATAD3A	c.1650C>T	NM_001170535.3	NP_001164006.1:p.(Thr550=)	NC_000001.10:g.1469341C>T	(Likely) benign	1 lab	14c53b71da
9:139400349 NOTCH1 G>A	9	139400349	139400349	G	A	NOTCH1	c.4015-16C>T	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139400349G>A	(Likely) benign	1 lab	d245f78cdc
7:73474290 ELN T>G	7	73474290	73474290	T	G	ELN	c.1489T>G	NM_000501.3	NP_000492.2:p.(Leu497Val)	NC_000007.13:g.73474290T>G	(Likely) benign	1 lab	d246073b0d
10:104352461 SUFU G>T	10	104352461	104352461	G	T	SUFU	c.577G>T	NM_016169.4	NP_057253.2:p.(Gly193Trp)	NC_000010.10:g.104352461G>T	(Likely) pathogenic	1 lab	d246556e96
1:179526353 NPHS2 C>A	1	179526353	179526353	C	A	NPHS2	c.547G>T	NM_014625.4	NP_055440.1:p.(Asp183Tyr)	NC_000001.10:g.179526353C>A	VUS	1 lab	d24807e61c
X:100656697 GLA TG>T	X	100656697	100656700	TG	T	GLA	c.469del	NM_000169.2	NP_000160.1:p.(Gln157ArgfsTer8)	NC_000023.10:g.100656700del	(Likely) pathogenic	1 lab	d24ca34dc6
4:106157540 TET2 G>A	4	106157540	106157540	G	A	TET2	c.2441G>A	NM_001127208.2	NP_001120680.1:p.(Arg814His)	NC_000004.11:g.106157540G>A	VUS	1 lab	14c72d48ec
15:93563244 CHD2 C>T	15	93563244	93563244	C	T	CHD2				NC_000015.9:g.93563244C>T	(Likely) pathogenic	1 lab	d255f0997e
2:25462023 DNMT3A C>T	2	25462023	25462023	C	T	DNMT3A	c.2384G>A	NM_022552.4	NP_072046.2:p.(Trp795Ter)	NC_000002.11:g.25462023C>T	VUS	1 lab	d2573aaaec
17:7915769 GUCY2D G>A	17	7915769	7915769	G	A	GUCY2D	c.1958G>A	NM_000180.3	NP_000171.1:p.(Gly653Glu)	NC_000017.10:g.7915769G>A	VUS	1 lab	d25af1aaca
7:91714185 AKAP9 T>C	7	91714185	91714185	T	C	AKAP9	c.8763T>C	NM_005751.4	NP_005742.4:p.(Phe2921=)	NC_000007.13:g.91714185T>C	VUS	1 lab	d25c02d1f8
5:137219115 MYOT G>A	5	137219115	137219115	G	A	MYOT	c.859G>A	NM_006790.2	NP_006781.1:p.(Gly287Arg)	NC_000005.9:g.137219115G>A	VUS	1 lab	d25df951d4
3:8775702 CAV3 G>A	3	8775702	8775702	G	A	CAV3	c.114+26G>A	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8775702G>A	(Likely) benign	1 lab	d25eb21a8a
3:123385147 MYLK G>A	3	123385147	123385147	G	A	MYLK	c.3750C>T	NM_053025.3	NP_444253.3:p.(Arg1250=)	NC_000003.11:g.123385147G>A	(Likely) benign	1 lab	d260401f53
17:41248003 BRCA1 G>A	17	41248003	41248003	G	A	BRCA1	c.594-64C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41248003G>A	(Likely) benign	1 lab	d26199a626
9:77386625 TRPM6 G>C	9	77386625	77386625	G	C	TRPM6	c.3530C>G	NM_017662.4	NP_060132.3:p.(Ser1177Ter)	NC_000009.11:g.77386625G>C	(Likely) pathogenic	1 lab	d266265bba
8:61654094 CHD7 A>C	8	61654094	61654094	A	C	CHD7	c.103A>C	NM_017780.3	NP_060250.2:p.(Asn35His)	NC_000008.10:g.61654094A>C	VUS	1 lab	d268146387
10:65225421 JMJD1C A>G	10	65225421	65225421	A	G	JMJD1C				NC_000010.10:g.65225421A>G	(Likely) pathogenic	1 lab	d269b23fbe
3:57843504 SLMAP G>A	3	57843504	57843504	G	A	SLMAP	c.564G>A	NM_001304420.2	NP_001291349.1:p.(Thr188=)	NC_000003.11:g.57843504G>A	(Likely) benign	1 lab	d26de10f64
4:123130364 BLTP1 A>G	4	123130364	123130364	A	G	BLTP1	c.1803A>G	NM_001384125.1	NP_001371054.1:p.(Lys601=)	NC_000004.11:g.123130364A>G	(Likely) pathogenic	1 lab	d26e8e5064
2:202619282 ALS2 C>T	2	202619282	202619282	C	T	ALS2	c.1584G>A	NM_020919.3	NP_065970.2:p.(Val528=)	NC_000002.11:g.202619282C>T	(Likely) benign	1 lab	d270941fd5
1:245018874 HNRNPU T>C	1	245018874	245018874	T	C	HNRNPU				NC_000001.10:g.245018874T>C	(Likely) benign	1 lab	d270f5be2d
12:25380285 KRAS G>A	12	25380285	25380285	G	A	KRAS	c.173C>T	NM_004985.4	NP_004976.2:p.(Thr58Ile)	NC_000012.11:g.25380285G>A	(Likely) pathogenic	1 lab	d275e4f544
7:103130204 RELN CGCAGAT>C	7	103130204	103130217	CGCAGAT	C	RELN	c.9742_9747del	NM_005045.3	NP_005036.2:p.(Ile3248_Cys3249del)	NC_000007.13:g.103130212_103130217del	VUS	1 lab	d2766a4fbd
3:124457042 UMPS G>A	3	124457042	124457042	G	A	UMPS	c.938G>A	NM_000373.4	NP_000364.1:p.(Arg313Gln)	NC_000003.11:g.124457042G>A	VUS	1 lab	d276bf2920
14:51096610 ATL1 G>T	14	51096610	51096610	G	T	ATL1	c.1552-103G>T	NM_015915.4	NP_056999.2:p.?	NC_000014.8:g.51096610G>T	(Likely) benign	1 lab	d27a312266
19:47259719 FKRP G>T	19	47259719	47259719	G	T	FKRP	c.1012G>T	NM_024301.4	NP_077277.1:p.(Val338Leu)	NC_000019.9:g.47259719G>T	VUS	1 lab	d27c9040d7
4:122776647 BBS7 C>A	4	122776647	122776647	C	A	BBS7	c.598G>T	NM_176824.2	NP_789794.1:p.(Gly200Cys)	NC_000004.11:g.122776647C>A	(Likely) pathogenic	1 lab	d27e1f6d2c
11:111899562 DLAT G>GCAGCACCTACCCCACAAGCGGCCC	11	111899562	111899593	G	GCAGCACCTACCCCACAAGCGGCCC	DLAT	c.561_584dup	NM_001931.5	NP_001922.2:p.(Gln190_Pro197dup)	NC_000011.9:g.111899570_111899593dup	VUS	1 lab	11f5320af6
15:67546967 AAGAB C>T	15	67546967	67546967	C	T	AAGAB	c.3G>A	NM_024666.5	NP_078942.3:p.(Met1?)	NC_000015.9:g.67546967C>T	(Likely) pathogenic	1 lab	d286286607
1:171086377 FMO3 C>T	1	171086377	171086377	C	T	FMO3	c.1394C>T	NM_001002294.3	NP_001002294.1:p.(Pro465Leu)	NC_000001.10:g.171086377C>T	(Likely) pathogenic	1 lab	d28871a27b
2:1946892 MYT1L C>A	2	1946892	1946892	C	A	MYT1L	c.367G>T	NM_015025.4	NP_055840.2:p.(Glu123Ter)	NC_000002.11:g.1946892C>A	(Likely) pathogenic	1 lab	d289c72bc6
1:214501085 SMYD2 G>A	1	214501085	214501085	G	A	SMYD2	c.705+18G>A	NM_020197.3	NP_064582.2:p.?	NC_000001.10:g.214501085G>A	(Likely) benign	1 lab	14cb949de0
8:144998076 PLEC C>T	8	144998076	144998076	C	T	PLEC	c.6432G>A	NM_201380.4	NP_958782.1:p.(Ala2144=)	NC_000008.10:g.144998076C>T	(Likely) benign	1 lab	14cf5ac2ea
10:112570145 RBM20 C>T	10	112570145	112570145	C	T	RBM20	c.1805C>T	NM_001134363.3	NP_001127835.2:p.(Pro602Leu)	NC_000010.10:g.112570145C>T	VUS	1 lab	d28ae0af38
13:20763697 GJB2 C>T	13	20763697	20763697	C	T	GJB2	c.24G>A	NM_004004.5	NP_003995.2:p.(Thr8=)	NC_000013.10:g.20763697C>T	(Likely) benign	1 lab	d28b74fecc
X:85211234 CHM AG>A	X	85211234	85211235	AG	A	CHM	c.1089del	NM_000390.4	NP_000381.1:p.(Cys364ValfsTer45)	NC_000023.10:g.85211235del	(Likely) pathogenic	1 lab	d28d7cd7f9
17:54672149 NOG G>T	17	54672149	54672149	G	T	NOG	c.565G>T	NM_005450.4	NP_005441.1:p.(Gly189Cys)	NC_000017.10:g.54672149G>T	VUS	1 lab	d28ff87568
8:57079652 PLAG1 C>A	8	57079652	57079652	C	A	PLAG1	c.653G>T	NM_002655.3	NP_002646.2:p.(Cys218Phe)	NC_000008.10:g.57079652C>A	VUS	1 lab	d2910a4dfc
16:2163269 PKD1 C>T	16	2163269	2163269	C	T	PKD1	c.2878G>A	NM_001009944.3	NP_001009944.3:p.(Gly960Ser)	NC_000016.9:g.2163269C>T	VUS	1 lab	d291d6fbe9
12:25380313 KRAS C>A	12	25380313	25380313	C	A	KRAS	c.145G>T	NM_033360.2	NP_203524.1:p.(Glu49Ter)	NC_000012.11:g.25380313C>A	VUS	1 lab	d2937d2c2a
2:228179238 COL4A3 G>A	2	228179238	228179238	G	A	COL4A3	c.*2652G>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228179238G>A	(Likely) benign	1 lab	d295d0c223
11:61539102 MYRF C>T	11	61539102	61539102	C	T	MYRF	c.871C>T	NM_001127392.3	NP_001120864.1:p.(Arg291Ter)	NC_000011.9:g.61539102C>T	(Likely) pathogenic	1 lab	d297b0c5ed
6:137147525 PEX7 G>A	6	137147525	137147525	G	A	PEX7	c.257G>A	NM_000288.3	NP_000279.1:p.(Cys86Tyr)	NC_000006.11:g.137147525G>A	(Likely) pathogenic	1 lab	d29d6b410f
14:23886673 MYH7 T>A	14	23886673	23886673	T	A	MYH7	c.4353+39A>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23886673T>A	(Likely) benign	1 lab	d29dc5d6ae
1:215955538 USH2A C>A	1	215955538	215955538	C	A	USH2A	c.10586G>T	NM_206933.2	NP_996816.2:p.(Gly3529Val)	NC_000001.10:g.215955538C>A	VUS	1 lab	d2a0463514
22:50962077 SCO2 C>T	22	50962077	50962077	C	T	SCO2	c.764G>A	NM_005138.3	NP_005129.2:p.(Arg255Gln)	NC_000022.10:g.50962077C>T	VUS	1 lab	20aed0d291
11:66454505 SPTBN2 C>T	11	66454505	66454505	C	T	SPTBN2	c.6856G>A	NM_006946.2	NP_008877.1:p.(Ala2286Thr)	NC_000011.9:g.66454505C>T	VUS	1 lab	d2a19af81b
17:56772332 RAD51C A>G	17	56772332	56772332	A	G	RAD51C	c.186A>G	NM_058216.3	NP_478123.1:p.(Gln62=)	NC_000017.10:g.56772332A>G	(Likely) benign	1 lab	d2a66fa81a
19:1495390 REEP6 A>AG	19	1495390	1495391	A	AG	REEP6	c.209+5dup	NM_001329556.2	NP_001316485.1:p.?	NC_000019.9:g.1495391dup	VUS	1 lab	d2a935976a
6:29910558 HLA-A T>C	6	29910558	29910558	T	C	HLA-A	c.98T>C	NM_002116.8	NP_002107.3:p.(Phe33Ser)	NC_000006.11:g.29910558T>C	(Likely) benign	1 lab	11ff5fe621
15:85188818 WDR73 C>T	15	85188818	85188818	C	T	WDR73	c.767G>A	NM_032856.5	NP_116245.2:p.(Arg256Gln)	NC_000015.9:g.85188818C>T	(Likely) pathogenic	1 lab	d2ac5e6251
1:241672054 FH T>C	1	241672054	241672054	T	C	FH				NC_000001.10:g.241672054T>C	(Likely) pathogenic	1 lab	f233ce66dc
X:107930810 COL4A5 C>T	X	107930810	107930810	C	T	COL4A5				NC_000023.10:g.107930810C>T	VUS	1 lab	d2ae40d9f2
19:50918793 POLD1 C>A	19	50918793	50918793	C	A	POLD1	c.2663C>A	NM_002691.4	NP_002682.2:p.(Thr888Asn)	NC_000019.9:g.50918793C>A	VUS	1 lab	d2af006a9a
X:70783076 OGT C>G	X	70783076	70783076	C	G	OGT	c.2245C>G	NM_181672.3	NP_858058.1:p.(Pro749Ala)	NC_000023.10:g.70783076C>G	(Likely) benign	1 lab	d2afccd726
2:179398239 TTN A>C	2	179398239	179398239	A	C	TTN	c.103103T>G	NM_001267550.2	NP_001254479.2:p.(Leu34368Ter)	NC_000002.11:g.179398239A>C	(Likely) pathogenic	1 lab	d2bc6b28d8
2:31805700 MISSING A>G	2	31805700	31805700	A	G	MISSING				NC_000002.11:g.31805700A>G	(Likely) pathogenic	1 lab	d2bdf4404b
10:88681275 BMPR1A A>G	10	88681275	88681275	A	G	BMPR1A	c.1167-2A>G	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88681275A>G	(Likely) pathogenic	1 lab	d2bf942f64
5:131915116 RAD50 A>C	5	131915116	131915116	A	C	RAD50	c.473A>C	NM_005732.3	NP_005723.2:p.(His158Pro)	NC_000005.9:g.131915116A>C	VUS	1 lab	d2bfd72ca8
2:200193611 SATB2 C>A	2	200193611	200193611	C	A	SATB2				NC_000002.11:g.200193611C>A	(Likely) pathogenic	1 lab	d2c4fe6e98
21:35883489 KCNE1 C>T	21	35883489	35883489	C	T	KCNE1				NC_000021.8:g.35883489C>T	(Likely) benign	1 lab	d2c5aff6d6
14:51099020 ATL1 C>T	14	51099020	51099020	C	T	ATL1	c.1640C>T	NM_015915.4	NP_056999.2:p.(Ser547Leu)	NC_000014.8:g.51099020C>T	(Likely) benign	1 lab	d2c5c2c228
6:161152240 PLG G>A	6	161152240	161152240	G	A	PLG	c.1414G>A	NM_000301.5	NP_000292.1:p.(Asp472Asn)	NC_000006.11:g.161152240G>A	(Likely) benign	1 lab	d2c5e86494
9:139327693 INPP5E G>A	9	139327693	139327693	G	A	INPP5E	c.1073C>T	NM_019892.5	NP_063945.2:p.(Pro358Leu)	NC_000009.11:g.139327693G>A	VUS	1 lab	d2c60ba527
3:9979453 CRELD1 C>A	3	9979453	9979453	C	A	CRELD1	c.368+97C>A	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9979453C>A	(Likely) benign	1 lab	d2c7a1f3d3
4:9922112 SLC2A9 C>T	4	9922112	9922112	C	T	SLC2A9	c.899G>A	NM_020041.3	NP_064425.2:p.(Arg300His)	NC_000004.11:g.9922112C>T	(Likely) benign	1 lab	14d8573c8c
9:94487377 ROR2 CTT>C	9	94487377	94487380	CTT	C	ROR2	c.1397_1398del	NM_004560.4	NP_004551.2:p.(Lys466ArgfsTer58)	NC_000009.11:g.94487379_94487380del	(Likely) pathogenic	1 lab	1209e0897e
3:14172343 TMEM43 A>G	3	14172343	14172343	A	G	TMEM43	c.184A>G	NM_024334.2	NP_077310.1:p.(Thr62Ala)	NC_000003.11:g.14172343A>G	VUS	1 lab	14da34183e
X:135092614 SLC9A6 T>C	X	135092614	135092614	T	C	SLC9A6				NC_000023.10:g.135092614T>C	VUS	1 lab	d2cb0e2841
11:76892456 MYO7A G>A	11	76892456	76892456	G	A	MYO7A	c.2725G>A	NM_000260.4	NP_000251.3:p.(Ala909Thr)	NC_000011.9:g.76892456G>A	VUS	1 lab	d2cc6f3567
2:48018201 MSH6 GT>G	2	48018201	48018207	GT	G	MSH6	c.402del	NM_000179.3	NP_000170.1:p.(Phe134LeufsTer15)	NC_000002.11:g.48018207del	(Likely) pathogenic	1 lab	d2ce22e024
16:23647523 PALB2 C>A	16	23647523	23647523	C	A	PALB2	c.344G>T	NM_024675.3	NP_078951.2:p.(Gly115Val)	NC_000016.9:g.23647523C>A	(Likely) benign	1 lab	d2ce7ec5ef
3:38781020 SCN10A G>A	3	38781020	38781020	G	A	SCN10A	c.2266C>T	NM_006514.3	NP_006505.3:p.(Arg756Trp)	NC_000003.11:g.38781020G>A	VUS	1 lab	d2d1ee6c6e
2:179498371 TTN C>T	2	179498371	179498371	C	T	TTN	c.42715G>A	NM_001267550.2	NP_001254479.2:p.(Asp14239Asn)	NC_000002.11:g.179498371C>T	(Likely) benign	1 lab	d2d29f83c2
9:35808513 NPR2 C>T	9	35808513	35808513	C	T	NPR2	c.2720C>T	NM_003995.3	NP_003986.2:p.(Thr907Met)	NC_000009.11:g.35808513C>T	(Likely) pathogenic	1 lab	d2d7b9388f
8:37620223 PLPBP G>GCA	8	37620223	37620225	G	GCA	PLPBP	c.47_48dup	NM_007198.4	NP_009129.1:p.(Leu17HisfsTer5)	NC_000008.10:g.37620224_37620225dup	(Likely) pathogenic	1 lab	121740927c
15:48595192 SLC12A1 G>T	15	48595192	48595192	G	T	SLC12A1				NC_000015.9:g.48595192G>T	(Likely) benign	1 lab	d2db4b899a
X:31838215 DMD C>T	X	31838215	31838215	C	T	DMD	c.6832-15G>A	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31838215C>T	(Likely) benign	1 lab	14e22dd62d
1:2235430 SKI C>T	1	2235430	2235430	C	T	SKI				NC_000001.10:g.2235430C>T	VUS	1 lab	d2f2a0b5e0
19:35773409 HAMP C>T	19	35773409	35773409	C	T	HAMP				NC_000019.9:g.35773409C>T	(Likely) pathogenic	1 lab	d2f2e55ca9
16:23641345 PALB2 C>T	16	23641345	23641345	C	T	PALB2	c.2130G>A	NM_024675.4	NP_078951.2:p.(Thr710=)	NC_000016.9:g.23641345C>T	(Likely) benign	1 lab	d2f42f2d84
X:153792233 IKBKG CT>C	X	153792233	153792234	CT	C	IKBKG	c.1116del	NM_001099857.5	NP_001093327.1:p.(Ala373ProfsTer78)	NC_000023.10:g.153792234del	(Likely) pathogenic	1 lab	d2f4de199d
16:56921844 SLC12A3 G>T	16	56921844	56921844	G	T	SLC12A3	c.2186G>T	NM_000339.2	NP_000330.2:p.(Gly729Val)	NC_000016.9:g.56921844G>T	(Likely) pathogenic	1 lab	d2f77150b6
19:12814270 TNPO2 C>A	19	12814270	12814270	C	A	TNPO2	c.2181G>T	NM_001136196.1	NP_001129668.1:p.(Trp727Cys)	NC_000019.9:g.12814270C>A	VUS	1 lab	d2fb47b2ca
4:6304242 WFS1 T>C	4	6304242	6304242	T	C	WFS1	c.*47T>C	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6304242T>C	(Likely) benign	1 lab	d2fcd49941
11:19209865 CSRP3 G>C	11	19209865	19209865	G	C	CSRP3	c.113-14C>G	NM_003476.4	NP_003467.1:p.?	NC_000011.9:g.19209865G>C	(Likely) benign	1 lab	d2fde7b47e
17:41276924 BRCA1 G>A	17	41276924	41276924	G	A	BRCA1	c.-20+364C>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276924G>A	(Likely) benign	1 lab	d2fe31b692
15:65268844 SPG21 C>G	15	65268844	65268844	C	G	SPG21	c.275G>C	NM_001127889.4	NP_001121361.1:p.(Arg92Thr)	NC_000015.9:g.65268844C>G	VUS	1 lab	d2feb97e9e
4:3475122 DOK7 G>A	4	3475122	3475122	G	A	DOK7	c.101-11G>A	NM_173660.4	NP_775931.3:p.?	NC_000004.11:g.3475122G>A	(Likely) benign	1 lab	d30162b120
8:61655547 CHD7 C>T	8	61655547	61655547	C	T	CHD7	c.1556C>T	NM_017780.3	NP_060250.2:p.(Pro519Leu)	NC_000008.10:g.61655547C>T	(Likely) benign	1 lab	d30614f2dc
12:57965933 KIF5A G>A	12	57965933	57965933	G	A	KIF5A	c.1452G>A	NM_004984.4	NP_004975.2:p.(Val484=)	NC_000012.11:g.57965933G>A	(Likely) benign	1 lab	d3103c5e63
2:48032121 MSH6 GAT>G	2	48032121	48032124	GAT	G	MSH6	c.3513_3514del	NM_000179.2	NP_000170.1:p.(Asp1171GlufsTer5)	NC_000002.11:g.48032123_48032124del	(Likely) pathogenic	1 lab	d314970ef2
2:47690268 MSH2 A>AT	2	47690268	47690270	A	AT	MSH2	c.1487dup	NM_000251.3	NP_000242.1:p.(Leu496PhefsTer17)	NC_000002.11:g.47690270dup	(Likely) pathogenic	1 lab	d31a15f25b
X:119679309 CUL4B G>A	X	119679309	119679309	G	A	CUL4B	c.964C>T	NM_003588.3	NP_003579.3:p.(Pro322Ser)	NC_000023.10:g.119679309G>A	VUS	1 lab	d31b8de87d
12:6472753 SCNN1A C>A	12	6472753	6472753	C	A	SCNN1A				NC_000012.11:g.6472753C>A	(Likely) benign	1 lab	d31b9a2405
17:39766610 KRT16 C>G	17	39766610	39766610	C	G	KRT16	c.1253G>C	NM_005557.3	NP_005548.2:p.(Arg418Pro)	NC_000017.10:g.39766610C>G	(Likely) pathogenic	1 lab	d320d40b17
4:114269420 ANK2 T>C	4	114269420	114269420	T	C	ANK2	c.4372-12T>C	NM_001148.5	NP_001139.3:p.?	NC_000004.11:g.114269420T>C	(Likely) benign	1 lab	d335402763
2:179396481 TTN G>A	2	179396481	179396481	G	A	TTN	c.104861C>T	NM_001267550.1	NP_001254479.1:p.(Pro34954Leu)	NC_000002.11:g.179396481G>A	VUS	1 lab	d321a877e3
11:108114691 ATM G>C	11	108114691	108114691	G	C	ATM	c.508G>C	NM_000051.3	NP_000042.3:p.(Val170Leu)	NC_000011.9:g.108114691G>C	(Likely) benign	1 lab	d321ac02ea
2:74491339 SLC4A5 C>T	2	74491339	74491339	C	T	SLC4A5	c.650G>A	NM_021196.3	NP_067019.3:p.(Arg217His)	NC_000002.11:g.74491339C>T	VUS	1 lab	d3259a70eb
X:153135383 L1CAM G>A	X	153135383	153135383	G	A	L1CAM	c.998C>T	NM_000425.3	NP_000416.1:p.(Pro333Leu)	NC_000023.10:g.153135383G>A	(Likely) pathogenic	1 lab	d326b22913
10:73326620 CDH23 G>A	10	73326620	73326620	G	A	CDH23	c.551G>A	NM_022124.5	NP_071407.4:p.(Arg184His)	NC_000010.10:g.73326620G>A	VUS	1 lab	d329073eca
11:2193087 TH G>A	11	2193087	2193087	G	A	TH				NC_000011.9:g.2193087G>A	(Likely) pathogenic	1 lab	f2dc5a6c0e
1:201039546 CACNA1S G>A	1	201039546	201039546	G	A	CACNA1S	c.2228-14C>T	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201039546G>A	(Likely) benign	1 lab	d32a4d3d0b
7:55229225 EGFR C>A	7	55229225	55229225	C	A	EGFR	c.1532C>A	NM_005228.3	NP_005219.2:p.(Ser511Tyr)	NC_000007.13:g.55229225C>A	VUS	1 lab	d32a62ccff
X:122537267 GRIA3 G>A	X	122537267	122537267	G	A	GRIA3	c.1190G>A	NM_007325.5	NP_015564.5:p.(Gly397Asp)	NC_000023.10:g.122537267G>A	(Likely) pathogenic	1 lab	d32c61fe32
12:50479258 SMARCD1 CCTCCTGTGCGAATGGGCCCG>C	12	50479258	50479278	CCTCCTGTGCGAATGGGCCCG	C	SMARCD1	c.107_126del	NM_003076.5	NP_003067.3:p.(Pro36ArgfsTer88)	NC_000012.11:g.50479259_50479278del	VUS	1 lab	1219e37646
9:101900281 TGFBR1 G>T	9	101900281	101900281	G	T	TGFBR1	c.715G>T	NM_004612.4	NP_004603.1:p.(Glu239Ter)	NC_000009.11:g.101900281G>T	(Likely) pathogenic	1 lab	d32d827b39
12:49424741 KMT2D G>A	12	49424741	49424741	G	A	KMT2D	c.13606C>T	NM_003482.4	NP_003473.3:p.(Arg4536Ter)	NC_000012.11:g.49424741G>A	(Likely) pathogenic	1 lab	d336088c1b
20:4776445 RASSF2 G>A	20	4776445	4776445	G	A	RASSF2	c.287+16C>T	NM_170774.1	NP_739580.1:p.?	NC_000020.10:g.4776445G>A	(Likely) benign	1 lab	d337c5d060
11:76918370 MYO7A T>A	11	76918370	76918370	T	A	MYO7A	c.5779T>A	NM_000260.4	NP_000251.3:p.(Phe1927Ile)	NC_000011.9:g.76918370T>A	VUS	1 lab	d33829ef56
12:111353533 MYL2 G>A	12	111353533	111353533	G	A	MYL2	c.155C>T	NM_000432.4	NP_000423.2:p.(Thr52Ile)	NC_000012.11:g.111353533G>A	VUS	1 lab	d338476c75
1:22202418 HSPG2 G>GCT	1	22202418	22202422	G	GCT	HSPG2	c.3119_3120dup	NM_005529.6	NP_005520.4:p.(His1041SerfsTer39)	NC_000001.10:g.22202421_22202422dup	(Likely) pathogenic	1 lab	d3394cb1ce
2:127828383 BIN1 T>C	2	127828383	127828383	T	C	BIN1	c.175A>G	NM_139343.2	NP_647593.1:p.(Thr59Ala)	NC_000002.11:g.127828383T>C	(Likely) benign	1 lab	d33a893697
X:148037926 AFF2 T>G	X	148037926	148037926	T	G	AFF2	c.2351T>G	NM_002025.3	NP_002016.2:p.(Met784Arg)	NC_000023.10:g.148037926T>G	VUS	1 lab	d33c4e4cd7
2:179484810 TTN T>C	2	179484810	179484810	T	C	TTN	c.46334A>G	NM_001267550.2	NP_001254479.2:p.(His15445Arg)	NC_000002.11:g.179484810T>C	VUS	1 lab	d33e1c40ee
5:112174437 APC G>A	5	112174437	112174437	G	A	APC	c.3146G>A	NM_000038.6	NP_000029.2:p.(Trp1049Ter)	NC_000005.9:g.112174437G>A	(Likely) pathogenic	1 lab	d344c13589
10:124755508 IKZF5 A>C	10	124755508	124755508	A	C	IKZF5	c.316+2T>G	NM_001271840.1	NP_001258769.1:p.?	NC_000010.10:g.124755508A>C	(Likely) pathogenic	1 lab	d345c71cb2
18:19353708 MIB1 T>C	18	19353708	19353708	T	C	MIB1	c.636+19T>C	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19353708T>C	(Likely) benign	1 lab	14e44ad052
2:227920715 COL4A4 C>T	2	227920715	227920715	C	T	COL4A4	c.2662G>A	NM_000092.4	NP_000083.3:p.(Gly888Arg)	NC_000002.11:g.227920715C>T	(Likely) pathogenic	1 lab	d3473ba60a
19:50775925 MYH14 G>A	19	50775925	50775925	G	A	MYH14	c.3404G>A	NM_001145809.1	NP_001139281.1:p.(Arg1135Gln)	NC_000019.9:g.50775925G>A	VUS	1 lab	d34840f4bb
11:108123699 ATM T>C	11	108123699	108123699	T	C	ATM	c.1898+60T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108123699T>C	(Likely) benign	1 lab	d349984081
6:29912188 HLA-A T>C	6	29912188	29912188	T	C	HLA-A	c.895+14T>C	NM_002116.8	NP_002107.3:p.?	NC_000006.11:g.29912188T>C	(Likely) benign	1 lab	1225d93a7c
12:133250289 POLE C>T	12	133250289	133250289	C	T	POLE	c.1231G>A	NM_006231.3	NP_006222.2:p.(Val411Met)	NC_000012.11:g.133250289C>T	(Likely) pathogenic	1 lab	d34e4c1dc3
4:77678035 SHROOM3 G>A	4	77678035	77678035	G	A	SHROOM3	c.5143G>A	NM_020859.3	NP_065910.3:p.(Val1715Ile)	NC_000004.11:g.77678035G>A	(Likely) benign	1 lab	d35180984f
6:32008342 CYP21A2 C>T	6	32008342	32008342	C	T	CYP21A2	c.1099C>T	NM_000500.7	NP_000491.4:p.(Arg367Cys)	NC_000006.11:g.32008342C>T	(Likely) pathogenic	1 lab	d355226643
2:32362259 SPAST T>G	2	32362259	32362259	T	G	SPAST	c.1493+2T>G	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32362259T>G	(Likely) pathogenic	1 lab	d35630fffc
1:216064359 USH2A G>A	1	216064359	216064359	G	A	USH2A	c.7595-1963C>T	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216064359G>A	(Likely) benign	1 lab	d3584f706a
10:69970996 MYPN G>A	10	69970996	69970996	G	A	MYPN				NC_000010.10:g.69970996G>A	VUS	1 lab	d35d1083ae
1:201027615 CACNA1S T>A	1	201027615	201027615	T	A	CACNA1S	c.3530A>T	NM_000069.2	NP_000060.2:p.(Tyr1177Phe)	NC_000001.10:g.201027615T>A	VUS	1 lab	d35d635b5c
22:51018428 CHKB G>A	22	51018428	51018428	G	A	CHKB	c.902C>T	NM_005198.5	NP_005189.2:p.(Thr301Ile)	NC_000022.10:g.51018428G>A	(Likely) benign	1 lab	122b46ac9a
4:114278634 ANK2 T>A	4	114278634	114278634	T	A	ANK2	c.8860T>A	NM_001148.5	NP_001139.3:p.(Phe2954Ile)	NC_000004.11:g.114278634T>A	(Likely) benign	1 lab	d36254810a
2:96920573 TMEM127 G>A	2	96920573	96920573	G	A	TMEM127	c.407C>T	NM_017849.3	NP_060319.1:p.(Thr136Met)	NC_000002.11:g.96920573G>A	VUS	1 lab	d362745d41
2:98351183 ZAP70 C>T	2	98351183	98351183	C	T	ZAP70	c.1082+8C>T	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98351183C>T	(Likely) benign	1 lab	14e7f57478
6:65300159 EYS A>G	6	65300159	65300159	A	G	EYS	c.5601T>C	NM_001142800.1	NP_001136272.1:p.(Ser1867=)	NC_000006.11:g.65300159A>G	(Likely) benign	1 lab	d36692854a
5:147204192 SPINK1 G>A	5	147204192	147204192	G	A	SPINK1	c.*32C>T	NM_003122.4	NP_003113.2:p.?	NC_000005.9:g.147204192G>A	(Likely) benign	1 lab	d366aa5e03
6:3154651 TUBB2A G>A	6	3154651	3154651	G	A	TUBB2A	c.784C>T	NM_001069.3	NP_001060.1:p.(Arg262Cys)	NC_000006.11:g.3154651G>A	(Likely) pathogenic	1 lab	d3696d0cfa
3:129247611 RHO C>G	3	129247611	129247611	C	G	RHO	c.35C>G	NM_000539.3	NP_000530.1:p.(Pro12Arg)	NC_000003.11:g.129247611C>G	VUS	1 lab	d36a65be92
10:112362634 SMC3 G>A	10	112362634	112362634	G	A	SMC3	c.3349G>A	NM_005445.4	NP_005436.1:p.(Gly1117Ser)	NC_000010.10:g.112362634G>A	(Likely) pathogenic	1 lab	d36edde49e
X:107840691 COL4A5 G>C	X	107840691	107840691	G	C	COL4A5	c.1672G>C	NM_033380.3	NP_203699.1:p.(Gly558Arg)	NC_000023.10:g.107840691G>C	(Likely) pathogenic	1 lab	d3714c3056
2:26695385 OTOF A>G	2	26695385	26695385	A	G	OTOF	c.3864+2T>C	NM_194248.2	NP_919224.1:p.?	NC_000002.11:g.26695385A>G	(Likely) pathogenic	1 lab	d375bcd853
2:179424168 TTN G>T	2	179424168	179424168	G	T	TTN	c.86691C>A	NM_001267550.2	NP_001254479.2:p.(Asn28897Lys)	NC_000002.11:g.179424168G>T	VUS	1 lab	1232986221
5:13886219 DNAH5 G>A	5	13886219	13886219	G	A	DNAH5	c.2597C>T	NM_001369.3	NP_001360.1:p.(Ala866Val)	NC_000005.9:g.13886219G>A	VUS	1 lab	1235bd6684
13:32945180 BRCA2 C>T	13	32945180	32945180	C	T	BRCA2	c.8575C>T	NM_000059.4	NP_000050.3:p.(Gln2859Ter)	NC_000013.10:g.32945180C>T	(Likely) pathogenic	1 lab	d37ed4ab92
11:68206060 LRP5 G>A	11	68206060	68206060	G	A	LRP5	c.4258G>A	NM_002335.4	NP_002326.2:p.(Gly1420Arg)	NC_000011.9:g.68206060G>A	VUS	1 lab	d384ddf3c5
5:127654668 FBN2 G>A	5	127654668	127654668	G	A	FBN2	c.4497C>T	NM_001999.3	NP_001990.2:p.(Asn1499=)	NC_000005.9:g.127654668G>A	(Likely) benign	1 lab	d386f174ed
19:55668511 TNNI3 G>C	19	55668511	55668511	G	C	TNNI3	c.25-10C>G	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668511G>C	(Likely) benign	1 lab	d3878ffcca
1:153790520 GATAD2B A>C	1	153790520	153790520	A	C	GATAD2B	c.725T>G	NM_020699.2	NP_065750.1:p.(Leu242Ter)	NC_000001.10:g.153790520A>C	(Likely) pathogenic	1 lab	d38a9fffd3
17:41249362 BRCA1 T>C	17	41249362	41249362	T	C	BRCA1	c.548-56A>G	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41249362T>C	(Likely) benign	1 lab	d38aa76984
4:155531248 FGG G>A	4	155531248	155531248	G	A	FGG				NC_000004.11:g.155531248G>A	VUS	1 lab	d38ae5c274
7:128478852 FLNC C>T	7	128478852	128478852	C	T	FLNC	c.1406C>T	NM_001458.4	NP_001449.3:p.(Ser469Leu)	NC_000007.13:g.128478852C>T	(Likely) benign	1 lab	d38d3e8e3c
14:23889497 MYH7 C>A	14	23889497	23889497	C	A	MYH7	c.3337-54G>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23889497C>A	(Likely) benign	1 lab	d3cc232e0e
1:237961356 RYR2 A>G	1	237961356	237961356	A	G	RYR2	c.13976A>G	NM_001035.2	NP_001026.2:p.(Glu4659Gly)	NC_000001.10:g.237961356A>G	(Likely) benign	1 lab	d38d8a7fd8
X:67431948 OPHN1 A>G	X	67431948	67431948	A	G	OPHN1	c.702+2T>C	NM_002547.2	NP_002538.1:p.?	NC_000023.10:g.67431948A>G	(Likely) pathogenic	1 lab	d38d914bb7
20:33578592 MYH7B G>A	20	33578592	33578592	G	A	MYH7B	c.2029G>A	NM_020884.7	NP_065935.4:p.(Val677Ile)	NC_000020.10:g.33578592G>A	VUS	1 lab	d3939ac978
16:16101723 ABCC1 T>G	16	16101723	16101723	T	G	ABCC1	c.99T>G	NM_004996.4	NP_004987.2:p.(Phe33Leu)	NC_000016.9:g.16101723T>G	VUS	1 lab	d394113b58
16:2226351 TRAF7 G>A	16	2226351	2226351	G	A	TRAF7	c.1964G>A	NM_032271.3	NP_115647.2:p.(Arg655Gln)	NC_000016.9:g.2226351G>A	(Likely) pathogenic	1 lab	d3961a0594
8:10480254 RP1L1 C>T	8	10480254	10480254	C	T	RP1L1	c.458G>A	NM_178857.5	NP_849188.4:p.(Arg153Lys)	NC_000008.10:g.10480254C>T	VUS	1 lab	d3967a6345
1:228482686 OBSCN T>C	1	228482686	228482686	T	C	OBSCN	c.12888T>C	NM_001271223.2	NP_001258152.2:p.(Thr4296=)	NC_000001.10:g.228482686T>C	(Likely) benign	1 lab	14e9fa3a02
6:32008640 CYP21A2 C>G	6	32008640	32008640	C	G	CYP21A2	c.1223-6C>G	NM_000500.7	NP_000491.4:p.?	NC_000006.11:g.32008640C>G	VUS	1 lab	d3a1b1f392
4:68620024 GNRHR A>T	4	68620024	68620024	A	T	GNRHR	c.30T>A	NM_000406.3	NP_000397.1:p.(Asn10Lys)	NC_000004.11:g.68620024A>T	(Likely) pathogenic	1 lab	d41c937e64
1:150531472 ADAMTSL4 G>A	1	150531472	150531472	G	A	ADAMTSL4	c.2594G>A	NM_019032.5	NP_061905.2:p.(Arg865His)	NC_000001.10:g.150531472G>A	(Likely) pathogenic	1 lab	d3a1cbfa35
2:227872801 COL4A4 T>C	2	227872801	227872801	T	C	COL4A4	c.4742A>G	NM_000092.5	NP_000083.3:p.(Gln1581Arg)	NC_000002.11:g.227872801T>C	VUS	1 lab	d3a3a4e3dd
X:107865062 COL4A5 C>T	X	107865062	107865062	C	T	COL4A5	c.2707C>T	NM_033380.3	NP_203699.1:p.(Pro903Ser)	NC_000023.10:g.107865062C>T	VUS	1 lab	d3a41cbcbc
9:2718534 KCNV2 C>G	9	2718534	2718534	C	G	KCNV2	c.795C>G	NM_133497.3	NP_598004.1:p.(Ala265=)	NC_000009.11:g.2718534C>G	(Likely) benign	1 lab	d3a9668d10
16:67203119 HSF4 TCCCAG>T	16	67203119	67203125	TCCCAG	T	HSF4	c.1165-61_1165-57del	NM_001538.4	NP_001529.2:p.?	NC_000016.9:g.67203121_67203125del	VUS	1 lab	d3acd41526
17:38975148 KRT10 A>AGCT	17	38975148	38975153	A	AGCT	KRT10	c.1636_1638dup	NM_000421.5	NP_000412.4:p.(Ser547dup)	NC_000017.10:g.38975151_38975153dup	VUS	1 lab	1239d3914e
3:57911611 SLMAP C>A	3	57911611	57911611	C	A	SLMAP	c.2395-1412C>A	NM_001304420.2	NP_001291349.1:p.?	NC_000003.11:g.57911611C>A	(Likely) benign	1 lab	d3ad1c57de
X:10535158 MISSING C>T	X	10535158	10535158	C	T	MISSING				NC_000023.10:g.10535158C>T	VUS	1 lab	d3ae86e57f
5:112155044 APC A>T	5	112155044	112155044	A	T	APC	c.1312+3A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112155044A>T	(Likely) pathogenic	1 lab	d3b2f5977a
21:43795972 TMPRSS3 G>C	21	43795972	43795972	G	C	TMPRSS3	c.1200C>G	NM_024022.2	NP_076927.1:p.(Asp400Glu)	NC_000021.8:g.43795972G>C	VUS	1 lab	d3b3fa97ad
19:49693477 TRPM4 C>A	19	49693477	49693477	C	A	TRPM4	c.2032C>A	NM_017636.3	NP_060106.2:p.(Gln678Lys)	NC_000019.9:g.49693477C>A	VUS	1 lab	d3b61d97ec
19:38980793 RYR1 C>G	19	38980793	38980793	C	G	RYR1	c.5892C>G	NM_000540.2	NP_000531.2:p.(Arg1964=)	NC_000019.9:g.38980793C>G	VUS	1 lab	d3b8d36ea1
2:179610881 TTN C>T	2	179610881	179610881	C	T	TTN	c.16246G>A	NM_133379.5	NP_596870.2:p.(Glu5416Lys)	NC_000002.11:g.179610881C>T	VUS	1 lab	1239f372c7
1:228526614 OBSCN G>A	1	228526614	228526614	G	A	OBSCN	c.20016G>A	NM_001271223.2	NP_001258152.2:p.(Leu6672=)	NC_000001.10:g.228526614G>A	(Likely) benign	1 lab	d3c16354ab
12:109998872 MMAB C>T	12	109998872	109998872	C	T	MMAB	c.557G>A	NM_052845.4	NP_443077.1:p.(Arg186Gln)	NC_000012.11:g.109998872C>T	VUS	1 lab	123fd89174
16:15811163 MYH11 C>A	16	15811163	15811163	C	A	MYH11	c.5338G>T	NM_002474.3	NP_002465.1:p.(Ala1780Ser)	NC_000016.9:g.15811163C>A	VUS	1 lab	1242f357d3
1:10042385 NMNAT1 G>A	1	10042385	10042385	G	A	NMNAT1	c.466G>A	NM_022787.4	NP_073624.2:p.(Gly156Arg)	NC_000001.10:g.10042385G>A	(Likely) pathogenic	1 lab	d3c6eadb8a
X:14627115 GLRA2 A>G	X	14627115	14627115	A	G	GLRA2	c.718A>G	NM_002063.3	NP_002054.1:p.(Lys240Glu)	NC_000023.10:g.14627115A>G	(Likely) benign	1 lab	d3c7d604fd
12:2019092 CACNA2D4 C>A	12	2019092	2019092	C	A	CACNA2D4	c.466G>T	NM_172364.5	NP_758952.4:p.(Glu156Ter)	NC_000012.11:g.2019092C>A	(Likely) pathogenic	1 lab	d3cd39fa99
1:12516165 VPS13D G>A	1	12516165	12516165	G	A	VPS13D	c.12445G>A	NM_015378.3	NP_056193.2:p.(Gly4149Ser)	NC_000001.10:g.12516165G>A	VUS	1 lab	d3d24fa293
18:29126345 DSG2 C>T	18	29126345	29126345	C	T	DSG2	c.2996C>T	NM_001943.3	NP_001934.2:p.(Ser999Leu)	NC_000018.9:g.29126345C>T	VUS	1 lab	14ef421487
5:156746776 CYFIP2 G>A	5	156746776	156746776	G	A	CYFIP2	c.1363G>A	NM_001037333.3	NP_001032410.1:p.(Ala455Thr)	NC_000005.9:g.156746776G>A	VUS	1 lab	d3d5dc1419
11:2538805 KCNQ1 C>T	11	2538805	2538805	C	T	KCNQ1	c.387-10353C>T	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2538805C>T	(Likely) benign	1 lab	12444e46eb
2:145147463 ZEB2 G>A	2	145147463	145147463	G	A	ZEB2	c.3200C>T	NM_014795.3	NP_055610.1:p.(Ser1067Leu)	NC_000002.11:g.145147463G>A	(Likely) pathogenic	1 lab	d3d9103192
X:53459058 HSD17B10 G>C	X	53459058	53459058	G	C	HSD17B10	c.364C>G	NM_004493.3	NP_004484.1:p.(Leu122Val)	NC_000023.10:g.53459058G>C	(Likely) pathogenic	1 lab	d3dd829c11
17:3397702 ASPA C>G	17	3397702	3397702	C	G	ASPA	c.693C>G	NM_000049.4	NP_000040.1:p.(Tyr231Ter)	NC_000017.10:g.3397702C>G	(Likely) pathogenic	1 lab	124469e2fa
4:52894220 SGCB G>A	4	52894220	52894220	G	A	SGCB	c.667C>T	NM_000232.4	NP_000223.1:p.(Arg223Cys)	NC_000004.11:g.52894220G>A	(Likely) benign	1 lab	d3e2b48d0d
1:103428250 COL11A1 C>T	1	103428250	103428250	C	T	COL11A1	c.2983G>A	NM_001854.3	NP_001845.3:p.(Glu995Lys)	NC_000001.10:g.103428250C>T	(Likely) pathogenic	1 lab	d3e5a38de2
2:179641061 TTN C>G	2	179641061	179641061	C	G	TTN	c.5530G>C	NM_001267550.2	NP_001254479.2:p.(Val1844Leu)	NC_000002.11:g.179641061C>G	VUS	1 lab	d3e9475d80
16:85690076 GSE1 A>T	16	85690076	85690076	A	T	GSE1	c.1117A>T	NM_014615.3	NP_055430.1:p.(Lys373Ter)	NC_000016.9:g.85690076A>T	VUS	1 lab	d3eceff045
13:32912933 BRCA2 G>A	13	32912933	32912933	G	A	BRCA2	c.4441G>A	NM_000059.3	NP_000050.2:p.(Glu1481Lys)	NC_000013.10:g.32912933G>A	(Likely) benign	1 lab	d3eeccf769
11:103062249 DYNC2H1 C>A	11	103062249	103062249	C	A	DYNC2H1	c.7441C>A	NM_001377.3	NP_001368.2:p.(Arg2481=)	NC_000011.9:g.103062249C>A	(Likely) benign	1 lab	d3ef4f6fc2
5:140033596 IK A>G	5	140033596	140033596	A	G	IK	c.478A>G	NM_006083.3	NP_006074.2:p.(Thr160Ala)	NC_000005.9:g.140033596A>G	VUS	1 lab	d3f0f77a9a
11:120989396 TECTA T>C	11	120989396	120989396	T	C	TECTA				NC_000011.9:g.120989396T>C	VUS	1 lab	d8348ff94c
12:6128389 VWF G>A	12	6128389	6128389	G	A	VWF	c.4195C>T	NM_000552.5	NP_000543.3:p.(Arg1399Cys)	NC_000012.11:g.6128389G>A	(Likely) pathogenic	1 lab	d3f1365133
11:76890970 MYO7A C>T	11	76890970	76890970	C	T	MYO7A	c.2557C>T	NM_000260.3	NP_000251.3:p.(Arg853Cys)	NC_000011.9:g.76890970C>T	(Likely) pathogenic	1 lab	d3f3f20088
13:52509167 ATP7B T>C	13	52509167	52509167	T	C	ATP7B	c.4125-2A>G	NM_000053.4	NP_000044.2:p.?	NC_000013.10:g.52509167T>C	(Likely) pathogenic	1 lab	14ffca277b
3:9483359 SETD5 T>C	3	9483359	9483359	T	C	SETD5	c.893T>C	NM_001080517.3	NP_001073986.1:p.(Ile298Thr)	NC_000003.11:g.9483359T>C	VUS	1 lab	d3f60b0227
2:179418736 TTN T>C	2	179418736	179418736	T	C	TTN	c.89102A>G	NM_001267550.2	NP_001254479.2:p.(Asn29701Ser)	NC_000002.11:g.179418736T>C	(Likely) benign	1 lab	d3f62a3447
17:29702044 NF1 A>T	17	29702044	29702044	A	T	NF1	c.*871A>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29702044A>T	(Likely) benign	1 lab	d3f7954fa5
X:64753499 LAS1L G>A	X	64753499	64753499	G	A	LAS1L	c.353C>T	NM_031206.7	NP_112483.1:p.(Ala118Val)	NC_000023.10:g.64753499G>A	VUS	1 lab	d3ffef03a2
19:50762405 MYH14 G>C	19	50762405	50762405	G	C	MYH14	c.2237G>C	NM_001145809.1	NP_001139281.1:p.(Gly746Ala)	NC_000019.9:g.50762405G>C	(Likely) benign	1 lab	d4021946a0
2:121726464 GLI2 A>T	2	121726464	121726464	A	T	GLI2	c.818A>T	NM_005270.4	NP_005261.2:p.(Tyr273Phe)	NC_000002.11:g.121726464A>T	VUS	1 lab	d407dcd5e3
20:42744318 JPH2 A>C	20	42744318	42744318	A	C	JPH2	c.1997T>G	NM_020433.4	NP_065166.2:p.(Val666Gly)	NC_000020.10:g.42744318A>C	(Likely) benign	1 lab	d40873d402
8:145009999 PLEC C>T	8	145009999	145009999	C	T	PLEC	c.1013+17G>A	NM_201380.4	NP_958782.1:p.?	NC_000008.10:g.145009999C>T	(Likely) benign	1 lab	1500170dbc
3:193333560 OPA1 G>T	3	193333560	193333560	G	T	OPA1	c.448+1G>T	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193333560G>T	(Likely) pathogenic	1 lab	d4094a59a6
12:111351009 MYL2 C>A	12	111351009	111351009	C	A	MYL2	c.353+41G>T	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351009C>A	(Likely) benign	1 lab	d40e23ccad
16:23646685 PALB2 A>G	16	23646685	23646685	A	G	PALB2	c.1182T>C	NM_024675.3	NP_078951.2:p.(His394=)	NC_000016.9:g.23646685A>G	(Likely) benign	1 lab	d411bf5a81
3:10184449 VHL C>T	3	10184449	10184449	C	T	VHL				NC_000003.11:g.10184449C>T	(Likely) benign	1 lab	d46aeeb63d
14:101347358 RTL1 C>T	14	101347358	101347358	C	T	RTL1	c.3768G>A	NM_001134888.3	NP_001128360.1:p.(Ser1256=)	NC_000014.8:g.101347358C>T	(Likely) benign	1 lab	124ada863e
17:29704002 NF1 T>C	17	29704002	29704002	T	C	NF1	c.*2829T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29704002T>C	(Likely) benign	1 lab	d4161fd3cc
2:48034047 MSH6 A>ATTCAGACAACATTATGATCT	2	48034047	48034067	A	ATTCAGACAACATTATGATCT	MSH6	c.*49_*68dup	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48034048_48034067dup	VUS	1 lab	d4169a61ea
X:153225290 HCFC1 G>A	X	153225290	153225290	G	A	HCFC1	c.1407C>T	NM_005334.3	NP_005325.2:p.(Gly469=)	NC_000023.10:g.153225290G>A	(Likely) benign	1 lab	15008ad0b0
2:1915796 MYT1L G>C	2	1915796	1915796	G	C	MYT1L	c.1699C>G	NM_001329846.1	NP_001316775.1:p.(Arg567Gly)	NC_000002.11:g.1915796G>C	VUS	1 lab	d41fd0b45f
7:151873853 KMT2C C>T	7	151873853	151873853	C	T	KMT2C	c.8685G>A	NM_170606.2	NP_733751.2:p.(Gln2895=)	NC_000007.13:g.151873853C>T	(Likely) benign	1 lab	d42018e11b
6:112575268 LAMA4 C>A	6	112575268	112575268	C	A	LAMA4	c.85G>T	NM_001105206.2	NP_001098676.2:p.(Asp29Tyr)	NC_000006.11:g.112575268C>A	(Likely) benign	1 lab	d42053f6fa
16:56916404 SLC12A3 C>T	16	56916404	56916404	C	T	SLC12A3	c.1664C>T	NM_000339.3	NP_000330.3:p.(Ser555Leu)	NC_000016.9:g.56916404C>T	(Likely) pathogenic	1 lab	15021c5b16
8:61777937 CHD7 C>T	8	61777937	61777937	C	T	CHD7	c.8439C>T	NM_017780.3	NP_060250.2:p.(Gly2813=)	NC_000008.10:g.61777937C>T	(Likely) benign	1 lab	d421e90064
3:176750925 TBL1XR1 C>A	3	176750925	176750925	C	A	TBL1XR1	c.1251-1G>T	NM_024665.7	NP_078941.2:p.?	NC_000003.11:g.176750925C>A	(Likely) pathogenic	1 lab	d423570350
2:179605263 TTN C>A	2	179605263	179605263	C	A	TTN	c.12697G>T	NM_001267550.2	NP_001254479.2:p.(Val4233Leu)	NC_000002.11:g.179605263C>A	(Likely) benign	1 lab	d42be32b16
14:74762696 ABCD4 A>G	14	74762696	74762696	A	G	ABCD4	c.543-14T>C	NM_005050.4	NP_005041.1:p.?	NC_000014.8:g.74762696A>G	(Likely) benign	1 lab	124fa9db4d
2:179575616 TTN A>T	2	179575616	179575616	A	T	TTN	c.28208T>A	NM_001267550.1	NP_001254479.1:p.(Leu9403His)	NC_000002.11:g.179575616A>T	VUS	1 lab	d432aca626
19:50365808 PNKP CAGG>C	19	50365808	50365813	CAGG	C	PNKP	c.920_922del	NM_007254.3	NP_009185.2:p.(Ser307del)	NC_000019.9:g.50365811_50365813del	(Likely) pathogenic	1 lab	d432d39526
1:3328722 PRDM16 C>T	1	3328722	3328722	C	T	PRDM16	c.1961C>T	NM_022114.3	NP_071397.3:p.(Ala654Val)	NC_000001.10:g.3328722C>T	(Likely) benign	1 lab	d4330f4655
17:40003655 KLHL10 T>C	17	40003655	40003655	T	C	KLHL10	c.1445T>C	NM_152467.5	NP_689680.2:p.(Val482Ala)	NC_000017.10:g.40003655T>C	VUS	1 lab	d4359bf7c2
X:154005148 DKC1 G>A	X	154005148	154005148	G	A	DKC1	c.*6G>A	NM_001363.3	NP_001354.1:p.?	NC_000023.10:g.154005148G>A	(Likely) benign	1 lab	d436704d88
10:18439795 CACNB2 T>TTTTTTTTTTTTTTTA	10	18439795	18439810	T	TTTTTTTTTTTTTTTA	CACNB2	c.37-16_37-2dup	NM_201571.4	NP_963865.2:p.?	NC_000010.10:g.18439796_18439810dup	(Likely) benign	1 lab	1502dac798
18:2954510 LPIN2 C>T	18	2954510	2954510	C	T	LPIN2	c.280G>A	NM_014646.2	NP_055461.1:p.(Glu94Lys)	NC_000018.9:g.2954510C>T	(Likely) benign	1 lab	15037acc79
1:9791392 MISSING T>C	1	9791392	9791392	T	C	MISSING				NC_000001.10:g.9791392T>C	VUS	1 lab	d43ab6622e
12:12940331 APOLD1 C>A	12	12940331	12940331	C	A	APOLD1	c.492C>A	NM_030817.3	NP_110444.3:p.(Tyr164Ter)	NC_000012.11:g.12940331C>A	VUS	1 lab	d43b83a231
2:99008427 CNGA3 C>T	2	99008427	99008427	C	T	CNGA3	c.667C>T	NM_001298.2	NP_001289.1:p.(Arg223Trp)	NC_000002.11:g.99008427C>T	(Likely) pathogenic	1 lab	d43bf6c004
12:2795412 CACNA1C C>T	12	2795412	2795412	C	T	CACNA1C	c.5761C>T	NM_000719.6	NP_000710.5:p.(Pro1921Ser)	NC_000012.11:g.2795412C>T	(Likely) benign	1 lab	d43d7dedd4
18:29104698 DSG2 CG>TA	18	29104698	29104699	CG	TA	DSG2	c.861_862delinsTA	NM_001943.3	NP_001934.2:p.(Val288Ile)	NC_000018.9:g.29104698_29104699delinsTA	VUS	1 lab	d4435c6df9
9:95526894 BICD2 C>G	9	95526894	95526894	C	G	BICD2	c.133G>C	NM_001003800.1	NP_001003800.1:p.(Glu45Gln)	NC_000009.11:g.95526894C>G	VUS	1 lab	d44a118bc3
4:114275381 ANK2 G>T	4	114275381	114275381	G	T	ANK2	c.5607G>T	NM_001148.4	NP_001139.3:p.(Ala1869=)	NC_000004.11:g.114275381G>T	(Likely) benign	1 lab	d44bf17e40
3:182763238 MCCC1 A>G	3	182763238	182763238	A	G	MCCC1	c.1046T>C	NM_020166.4	NP_064551.3:p.(Met349Thr)	NC_000003.11:g.182763238A>G	VUS	1 lab	d44e703ddb
2:167136962 SCN1A-AS1 T>C	2	167136962	167136962	T	C	SCN1A-AS1	n.1029+3205T>C	NR_110260.1		NC_000002.11:g.167136962T>C	(Likely) benign	1 lab	1504a16183
1:160104997 ATP1A2 A>T	1	160104997	160104997	A	T	ATP1A2	c.2027A>T	NM_000702.3	NP_000693.1:p.(Asp676Val)	NC_000001.10:g.160104997A>T	(Likely) benign	1 lab	d4537bda92
11:121033031 TECTA C>T	11	121033031	121033031	C	T	TECTA				NC_000011.9:g.121033031C>T	VUS	1 lab	d46d548a32
2:179466872 TTN G>A	2	179466872	179466872	G	A	TTN	c.55126C>T	NM_001267550.1	NP_001254479.1:p.(Pro18376Ser)	NC_000002.11:g.179466872G>A	VUS	1 lab	1504a91e3b
3:38945612 SCN11A A>G	3	38945612	38945612	A	G	SCN11A	c.1604-18T>C	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38945612A>G	(Likely) benign	1 lab	d455585e0f
1:156821832 INSRR C>T	1	156821832	156821832	C	T	INSRR	c.789G>A	NM_014215.3	NP_055030.1:p.(Pro263=)	NC_000001.10:g.156821832C>T	(Likely) benign	1 lab	d45580c045
17:40481661 STAT3 G>A	17	40481661	40481661	G	A	STAT3	c.1144C>T	NM_139276.2	NP_644805.1:p.(Arg382Trp)	NC_000017.10:g.40481661G>A	(Likely) pathogenic	1 lab	d4575de7c3
2:127864921 BIN1 C>G	2	127864921	127864921	C	G	BIN1				NC_000002.11:g.127864921C>G	(Likely) benign	1 lab	d458d540a9
1:155874286 RIT1 A>C	1	155874286	155874286	A	C	RIT1	c.245T>G	NM_006912.6	NP_008843.1:p.(Phe82Cys)	NC_000001.10:g.155874286A>C	(Likely) pathogenic	1 lab	d45935ee30
11:118897719 MISSING C>G	11	118897719	118897719	C	G	MISSING				NC_000011.9:g.118897719C>G	VUS	1 lab	d45ca6751f
X:107845151 COL4A5 G>A	X	107845151	107845151	G	A	COL4A5	c.2078G>A	NM_033380.2	NP_203699.1:p.(Gly693Glu)	NC_000023.10:g.107845151G>A	(Likely) pathogenic	1 lab	d45d7079c9
9:136310908 ADAMTS13 C>T	9	136310908	136310908	C	T	ADAMTS13	c.2699C>T	NM_139025.4	NP_620594.1:p.(Ala900Val)	NC_000009.11:g.136310908C>T	(Likely) benign	1 lab	d45f1439ec
2:220285014 DES C>T	2	220285014	220285014	C	T	DES	c.681C>T	NM_001927.3	NP_001918.3:p.(Arg227=)	NC_000002.11:g.220285014C>T	(Likely) benign	1 lab	d45faaf1c2
16:396264 AXIN1 A>G	16	396264	396264	A	G	AXIN1	c.762T>C	NM_003502.4	NP_003493.1:p.(Asp254=)	NC_000016.9:g.396264A>G	(Likely) benign	1 lab	12516a908f
12:133202215 POLE G>A	12	133202215	133202215	G	A	POLE	c.6657+16C>T	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133202215G>A	(Likely) benign	1 lab	d466b026e1
13:32911067 BRCA2 G>C	13	32911067	32911067	G	C	BRCA2	c.2575G>C	NM_000059.4	NP_000050.3:p.(Val859Leu)	NC_000013.10:g.32911067G>C	VUS	1 lab	125197a0b3
4:48012817 CNGA1 G>A	4	48012817	48012817	G	A	CNGA1	c.-117C>T	NM_000087.3	NP_000078.2:p.?	NC_000004.11:g.48012817G>A	(Likely) benign	1 lab	d46993dfe8
10:73537454 CDH23 C>A	10	73537454	73537454	C	A	CDH23	c.4863C>A	NM_022124.5	NP_071407.4:p.(Tyr1621Ter)	NC_000010.10:g.73537454C>A	(Likely) pathogenic	1 lab	d46a52e3ae
13:32972566 BRCA2 A>T	13	32972566	32972566	A	T	BRCA2	c.9916A>T	NM_000059.3	NP_000050.2:p.(Thr3306Ser)	NC_000013.10:g.32972566A>T	(Likely) benign	1 lab	d46eb2d220
5:180045739 FLT4 A>C	5	180045739	180045739	A	C	FLT4	c.3001+31T>G	NM_002020.4	NP_002011.2:p.?	NC_000005.9:g.180045739A>C	VUS	1 lab	d4715b507c
15:90210957 PLIN1 C>T	15	90210957	90210957	C	T	PLIN1	c.839G>A	NM_002666.5	NP_002657.3:p.(Arg280Gln)	NC_000015.9:g.90210957C>T	VUS	1 lab	20e3eaa309
12:133219162 POLE C>T	12	133219162	133219162	C	T	POLE	c.4882G>A	NM_006231.4	NP_006222.2:p.(Gly1628Arg)	NC_000012.11:g.133219162C>T	VUS	1 lab	1252571b9e
16:1507331 CLCN7 G>A	16	1507331	1507331	G	A	CLCN7	c.746C>T	NM_001287.5	NP_001278.1:p.(Pro249Leu)	NC_000016.9:g.1507331G>A	(Likely) pathogenic	1 lab	d47a37e975
19:39071104 RYR1 A>C	19	39071104	39071104	A	C	RYR1				NC_000019.9:g.39071104A>C	VUS	1 lab	d47a628e93
19:6709848 C3 C>T	19	6709848	6709848	C	T	C3	c.1692G>A	NM_000064.3	NP_000055.2:p.(Val564=)	NC_000019.9:g.6709848C>T	(Likely) benign	1 lab	d47b3cf7e4
1:156108395 LMNA CCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCCTGCAGGCGGGTCCCTGGTCATCGAGGGGTAGGACGAGGTGGCCTTG>C	1	156108395	156108628	CCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAGGTGAGTTGTCTCTGCTTTGTCTCCAAATCCTGCAGGCGGGTCCCTGGTCATCGAGGGGTAGGACGAGGTGGCCTTG	C	LMNA	c.1820_1968+80del	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156108400_156108628del	(Likely) pathogenic	1 lab	d47e63add1
8:143957509 CYP11B1 G>C	8	143957509	143957509	G	C	CYP11B1	c.954+148C>G	NM_000497.3	NP_000488.3:p.?	NC_000008.10:g.143957509G>C	VUS	1 lab	d47f4febe5
3:52439947 BAP1 G>A	3	52439947	52439947	G	A	BAP1	c.784-19C>T	NM_004656.3	NP_004647.1:p.?	NC_000003.11:g.52439947G>A	(Likely) benign	1 lab	d47f92c3b0
2:223161891 PAX3 C>T	2	223161891	223161891	C	T	PAX3				NC_000002.11:g.223161891C>T	(Likely) pathogenic	1 lab	d48456404c
11:64575153 MEN1 C>T	11	64575153	64575153	C	T	MEN1	c.655-1G>A	NM_130799.2	NP_570711.1:p.?	NC_000011.9:g.64575153C>T	(Likely) pathogenic	1 lab	d484f4f330
X:153670571 GDI1 G>C	X	153670571	153670571	G	C	GDI1				NC_000023.10:g.153670571G>C	(Likely) pathogenic	1 lab	d48594a073
6:65767603 EYS C>A	6	65767603	65767603	C	A	EYS	c.2041G>T	NM_001142800.1	NP_001136272.1:p.(Asp681Tyr)	NC_000006.11:g.65767603C>A	VUS	1 lab	d485b1fd58
1:236850102 ACTN2 C>CCT	1	236850102	236850103	C	CCT	ACTN2	c.126+3_126+4insCT	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236850102_236850103insCT	(Likely) benign	1 lab	d486080437
8:61655493 CHD7 A>G	8	61655493	61655493	A	G	CHD7	c.1502A>G	NM_017780.3	NP_060250.2:p.(His501Arg)	NC_000008.10:g.61655493A>G	(Likely) benign	1 lab	d4865cccf1
X:14882768 FANCB G>A	X	14882768	14882768	G	A	FANCB	c.865C>T	NM_001018113.3	NP_001018123.1:p.(Leu289Phe)	NC_000023.10:g.14882768G>A	VUS	1 lab	d488f57ade
22:51015481 CPT1B G>A	22	51015481	51015481	G	A	CPT1B	c.282-18C>T	NM_152246.3	NP_689452.1:p.?	NC_000022.10:g.51015481G>A	(Likely) benign	1 lab	d48c291acc
5:136974705 KLHL3 T>C	5	136974705	136974705	T	C	KLHL3	c.1156A>G	NM_017415.3	NP_059111.2:p.(Thr386Ala)	NC_000005.9:g.136974705T>C	(Likely) pathogenic	1 lab	d49052bb04
5:112175984 APC GA>G	5	112175984	112175985	GA	G	APC	c.4694del	NM_000038.6	NP_000029.2:p.(Asp1565ValfsTer11)	NC_000005.9:g.112175985del	(Likely) pathogenic	1 lab	d4937c3443
20:420950 TBC1D20 C>T	20	420950	420950	C	T	TBC1D20				NC_000020.10:g.420950C>T	VUS	1 lab	d4947dd489
14:23894870 MYH7 G>A	14	23894870	23894870	G	A	MYH7	c.2286+34C>T	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23894870G>A	(Likely) benign	1 lab	d498314ce1
6:31915614 CFB G>A	6	31915614	31915614	G	A	CFB	c.754G>A	NM_001710.5	NP_001701.2:p.(Gly252Ser)	NC_000006.11:g.31915614G>A	(Likely) benign	1 lab	d49a847a1f
17:78090814 GAA G>C	17	78090814	78090814	G	C	GAA	c.2237G>C	NM_000152.4	NP_000143.2:p.(Trp746Ser)	NC_000017.10:g.78090814G>C	(Likely) pathogenic	1 lab	d49a95fe30
7:150655250 KCNH2 G>T	7	150655250	150655250	G	T	KCNH2	c.813C>A	NM_000238.3	NP_000229.1:p.(Arg271=)	NC_000007.13:g.150655250G>T	(Likely) benign	1 lab	1515b3fa78
17:41243065 BRCA1 C>A	17	41243065	41243065	C	A	BRCA1	c.4097-16G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41243065C>A	(Likely) benign	1 lab	d4a16be1d9
8:38272420 FGFR1 C>T	8	38272420	38272420	C	T	FGFR1	c.1855-1G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38272420C>T	(Likely) pathogenic	1 lab	d4a1c2aec7
9:135985796 RALGDS C>T	9	135985796	135985796	C	T	RALGDS	c.375G>A	NM_006266.4	NP_006257.1:p.(Val125=)	NC_000009.11:g.135985796C>T	(Likely) benign	1 lab	1253c6bac9
10:21178889 NEBL G>T	10	21178889	21178889	G	T	NEBL	c.154-11C>A	NM_006393.2	NP_006384.1:p.?	NC_000010.10:g.21178889G>T	(Likely) benign	1 lab	1516e78e86
10:73544857 CDH23 G>A	10	73544857	73544857	G	A	CDH23	c.5712G>A	NM_022124.5	NP_071407.4:p.(Thr1904=)	NC_000010.10:g.73544857G>A	(Likely) pathogenic	1 lab	d4a4a5e3d9
15:48703481 FBN1 C>G	15	48703481	48703481	C	G	FBN1	c.8322G>C	NM_000138.4	NP_000129.3:p.(Lys2774Asn)	NC_000015.9:g.48703481C>G	VUS	1 lab	15198c0ff6
18:44222001 LOXHD1 T>C	18	44222001	44222001	T	C	LOXHD1	c.246-2A>G	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44222001T>C	(Likely) pathogenic	1 lab	d4aefd0001
10:95400246 PDE6C C>T	10	95400246	95400246	C	T	PDE6C	c.1669C>T	NM_006204.3	NP_006195.3:p.(Arg557Ter)	NC_000010.10:g.95400246C>T	(Likely) pathogenic	1 lab	d4b89a865e
6:108224151 SEC63 A>C	6	108224151	108224151	A	C	SEC63	c.1106T>G	NM_007214.4	NP_009145.1:p.(Leu369Arg)	NC_000006.11:g.108224151A>C	VUS	1 lab	d4bd96108a
9:95480064 BICD2 C>G	9	95480064	95480064	C	G	BICD2	c.2258+15G>C	NM_001003800.2	NP_001003800.1:p.?	NC_000009.11:g.95480064C>G	(Likely) benign	1 lab	151ba631a0
18:21484606 LAMA3 C>T	18	21484606	21484606	C	T	LAMA3	c.1736C>T	NM_000227.6	NP_000218.3:p.(Ala579Val)	NC_000018.9:g.21484606C>T	VUS	1 lab	1256306378
6:65229223 EYS G>A	6	65229223	65229223	G	A	EYS	c.5644+70893C>T	NM_001142800.2	NP_001136272.1:p.?	NC_000006.11:g.65229223G>A	(Likely) benign	1 lab	d4c0bc6dd4
5:112174119 APC C>A	5	112174119	112174119	C	A	APC	c.2828C>A	NM_000038.5	NP_000029.2:p.(Ser943Ter)	NC_000005.9:g.112174119C>A	(Likely) pathogenic	1 lab	d4c12bcbdb
7:151478428 PRKAG2 A>T	7	151478428	151478428	A	T	PRKAG2	c.276T>A	NM_016203.3	NP_057287.2:p.(Pro92=)	NC_000007.13:g.151478428A>T	(Likely) benign	1 lab	d4c795c4e5
9:136287582 ADAMTS13 C>T	9	136287582	136287582	C	T	ADAMTS13	c.19C>T	NM_139027.6	NP_620596.2:p.(Arg7Trp)	NC_000009.11:g.136287582C>T	(Likely) benign	1 lab	d4cce3a8da
12:56566244 SMARCC2 A>G	12	56566244	56566244	A	G	SMARCC2	c.1894T>C	NM_001330288.2	NP_001317217.1:p.(Trp632Arg)	NC_000012.11:g.56566244A>G	VUS	1 lab	d4cd3c2b9e
3:38739769 SCN10A C>T	3	38739769	38739769	C	T	SCN10A	c.4942G>A	NM_006514.4	NP_006505.4:p.(Ala1648Thr)	NC_000003.11:g.38739769C>T	(Likely) benign	1 lab	d4cdad5217
13:32930646 BRCA2 A>C	13	32930646	32930646	A	C	BRCA2	c.7517A>C	NM_000059.3	NP_000050.2:p.(Gln2506Pro)	NC_000013.10:g.32930646A>C	VUS	1 lab	d4cf0a6676
4:88979215 PKD2 A>G	4	88979215	88979215	A	G	PKD2	c.1979A>G	NM_000297.4	NP_000288.1:p.(Tyr660Cys)	NC_000004.11:g.88979215A>G	VUS	1 lab	d4d01a32df
X:32519887 DMD C>T	X	32519887	32519887	C	T	DMD	c.2365G>A	NM_004006.3	NP_003997.2:p.(Glu789Lys)	NC_000023.10:g.32519887C>T	VUS	1 lab	1257c654a0
2:179422293 TTN G>A	2	179422293	179422293	G	A	TTN	c.87707-11C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179422293G>A	(Likely) benign	1 lab	d4d8df0982
3:121975975 CASR T>C	3	121975975	121975975	T	C	CASR	c.233T>C	NM_000388.4	NP_000379.3:p.(Ile78Thr)	NC_000003.11:g.121975975T>C	VUS	1 lab	d4d9112280
10:54053567 PRKG1 A>G	10	54053567	54053567	A	G	PRKG1	c.1968A>G	NM_006258.4	NP_006249.1:p.(Ala656=)	NC_000010.10:g.54053567A>G	(Likely) benign	1 lab	d4db879dad
13:32944639 BRCA2 A>C	13	32944639	32944639	A	C	BRCA2	c.8432A>C	NM_000059.4	NP_000050.3:p.(Asp2811Ala)	NC_000013.10:g.32944639A>C	VUS	1 lab	1259a8b569
5:112178742 APC T>TTG	5	112178742	112178743	T	TTG	APC	c.7451_7452insTG	NM_000038.6	NP_000029.2:p.(Leu2484PhefsTer33)	NC_000005.9:g.112178742_112178743insTG	(Likely) pathogenic	1 lab	d4ddf70937
20:42744895 JPH2 C>T	20	42744895	42744895	C	T	JPH2	c.1420G>A	NM_020433.4	NP_065166.2:p.(Glu474Lys)	NC_000020.10:g.42744895C>T	(Likely) benign	1 lab	d4e029894d
2:179459306 TTN C>T	2	179459306	179459306	C	T	TTN	c.50211G>A	NM_133378.4	NP_596869.4:p.(Trp16737Ter)	NC_000002.11:g.179459306C>T	(Likely) pathogenic	1 lab	d4e0f1382f
9:98224253 PTCH1 C>T	9	98224253	98224253	C	T	PTCH1	c.2588G>A	NM_000264.5	NP_000255.2:p.(Trp863Ter)	NC_000009.11:g.98224253C>T	(Likely) pathogenic	1 lab	d4e6755adf
18:28662380 DSC2 A>C	18	28662380	28662380	A	C	DSC2	c.1087T>G	NM_024422.4	NP_077740.1:p.(Ser363Ala)	NC_000018.9:g.28662380A>C	(Likely) benign	1 lab	d4e6d35496
3:122003717 CASR G>A	3	122003717	122003717	G	A	CASR	c.2916G>A	NM_000388.3	NP_000379.2:p.(Thr972=)	NC_000003.11:g.122003717G>A	(Likely) benign	1 lab	d4e765dc8b
12:53453800 TNS2 GA>G	12	53453800	53453801	GA	G	TNS2	c.2376del	NM_170754.4	NP_736610.2:p.(Gly793GlufsTer52)	NC_000012.11:g.53453801del	VUS	1 lab	151dd80b29
10:88659652 BMPR1A G>A	10	88659652	88659652	G	A	BMPR1A	c.430+5G>A	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88659652G>A	VUS	1 lab	d4ed432616
8:25292997 KCTD9 C>T	8	25292997	25292997	C	T	KCTD9	c.695G>A	NM_017634.3	NP_060104.2:p.(Arg232His)	NC_000008.10:g.25292997C>T	VUS	1 lab	d4f114cf2e
6:7565703 DSP G>A	6	7565703	7565703	G	A	DSP	c.889G>A	NM_004415.4	NP_004406.2:p.(Asp297Asn)	NC_000006.11:g.7565703G>A	VUS	1 lab	d4f1af92c1
5:112173926 APC C>T	5	112173926	112173926	C	T	APC	c.2635C>T	NM_000038.6	NP_000029.2:p.(Gln879Ter)	NC_000005.9:g.112173926C>T	(Likely) pathogenic	1 lab	d4f5f7e813
8:27362548 EPHX2 G>T	8	27362548	27362548	G	T	EPHX2	c.422G>T	NM_001979.6	NP_001970.2:p.(Cys141Phe)	NC_000008.10:g.27362548G>T	VUS	1 lab	125b6fd968
2:37208776 HEATR5B T>C	2	37208776	37208776	T	C	HEATR5B	c.6073A>G	NM_019024.3	NP_061897.1:p.(Met2025Val)	NC_000002.11:g.37208776T>C	VUS	1 lab	125c5e4d58
8:28019533 MISSING T>C	8	28019533	28019533	T	C	MISSING				NC_000008.10:g.28019533T>C	VUS	1 lab	d4f978f894
3:4711454 ITPR1 C>T	3	4711454	4711454	C	T	ITPR1	c.1958C>T	NM_002222.7	NP_002213.5:p.(Thr653Ile)	NC_000003.11:g.4711454C>T	VUS	1 lab	12627cd468
12:112942597 PTPN11 A>G	12	112942597	112942597	A	G	PTPN11	c.*29A>G	NM_002834.3	NP_002825.3:p.?	NC_000012.11:g.112942597A>G	(Likely) benign	1 lab	d50251a122
10:18439808 CACNB2 T>G	10	18439808	18439808	T	G	CACNB2				NC_000010.10:g.18439808T>G	(Likely) benign	1 lab	d5050d24ae
9:139400020 NOTCH1 G>A	9	139400020	139400020	G	A	NOTCH1	c.4328C>T	NM_017617.3	NP_060087.3:p.(Pro1443Leu)	NC_000009.11:g.139400020G>A	VUS	1 lab	d5054557ea
14:65271634 SPTB G>A	14	65271634	65271634	G	A	SPTB	c.300+23C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271634G>A	(Likely) benign	1 lab	15234c86f1
13:20763589 GJB2 C>T	13	20763589	20763589	C	T	GJB2	c.132G>A	NM_004004.5	NP_003995.2:p.(Trp44Ter)	NC_000013.10:g.20763589C>T	(Likely) pathogenic	1 lab	d506218269
2:179426458 TTN C>T	2	179426458	179426458	C	T	TTN	c.84401G>A	NM_001267550.2	NP_001254479.2:p.(Arg28134His)	NC_000002.11:g.179426458C>T	VUS	1 lab	d5063636ad
1:216595326 USH2A G>C	1	216595326	216595326	G	C	USH2A	c.353C>G	NM_206933.2	NP_996816.2:p.(Pro118Arg)	NC_000001.10:g.216595326G>C	VUS	1 lab	d509d9f439
21:35821686 KCNE1 C>T	21	35821686	35821686	C	T	KCNE1	c.247G>A	NM_000219.5	NP_000210.2:p.(Glu83Lys)	NC_000021.8:g.35821686C>T	VUS	1 lab	d5120bb41d
10:96306265 HELLS G>T	10	96306265	96306265	G	T	HELLS	c.153+10G>T	NM_018063.5	NP_060533.2:p.?	NC_000010.10:g.96306265G>T	(Likely) benign	1 lab	15263859ea
2:62067433 FAM161A T>C	2	62067433	62067433	T	C	FAM161A	c.706A>G	NM_001201543.1	NP_001188472.1:p.(Ile236Val)	NC_000002.11:g.62067433T>C	(Likely) benign	1 lab	d514c87274
5:112173401 APC G>A	5	112173401	112173401	G	A	APC				NC_000005.9:g.112173401G>A	VUS	1 lab	d5150f5fee
11:47355249 MYBPC3 C>T	11	47355249	47355249	C	T	MYBPC3	c.3049G>A	NM_000256.3	NP_000247.2:p.(Glu1017Lys)	NC_000011.9:g.47355249C>T	(Likely) benign	1 lab	15267f084d
2:179395591 TTN T>A	2	179395591	179395591	T	A	TTN	c.98047A>T	NM_133378.4	NP_596869.4:p.(Lys32683Ter)	NC_000002.11:g.179395591T>A	(Likely) pathogenic	1 lab	d515e14505
9:139391568 NOTCH1 C>T	9	139391568	139391568	C	T	NOTCH1	c.6623G>A	NM_017617.5	NP_060087.3:p.(Gly2208Asp)	NC_000009.11:g.139391568C>T	VUS	1 lab	d517b79153
14:23855160 MYH6 G>A	14	23855160	23855160	G	A	MYH6	c.5140C>T	NM_002471.3	NP_002462.2:p.(Arg1714Trp)	NC_000014.8:g.23855160G>A	VUS	1 lab	d51a437f03
16:23379279 SCNN1B C>T	16	23379279	23379279	C	T	SCNN1B	c.879C>T	NM_000336.2	NP_000327.2:p.(Phe293=)	NC_000016.9:g.23379279C>T	(Likely) benign	1 lab	d51c709371
22:24807662 SPECC1L G>C	22	24807662	24807662	G	C	SPECC1L	c.3194G>C	NM_015330.6	NP_056145.5:p.(Ser1065Thr)	NC_000022.10:g.24807662G>C	VUS	1 lab	12657822ee
2:179462486 TTN C>T	2	179462486	179462486	C	T	TTN	c.57323G>A	NM_001267550.1	NP_001254479.1:p.(Gly19108Glu)	NC_000002.11:g.179462486C>T	VUS	1 lab	d51de6401e
17:7578392 TP53 C>T	17	7578392	7578392	C	T	TP53	c.538G>A	NM_000546.5	NP_000537.3:p.(Glu180Lys)	NC_000017.10:g.7578392C>T	(Likely) pathogenic	1 lab	d521d62835
7:100225031 TFR2 G>A	7	100225031	100225031	G	A	TFR2	c.1851C>T	NM_003227.3	NP_003218.2:p.(Ala617=)	NC_000007.13:g.100225031G>A	(Likely) benign	1 lab	d52285ecfb
16:89261295 CDH15 C>G	16	89261295	89261295	C	G	CDH15	c.2177C>G	NM_004933.3	NP_004924.1:p.(Pro726Arg)	NC_000016.9:g.89261295C>G	VUS	1 lab	126683e50d
16:23615038 PALB2 C>A	16	23615038	23615038	C	A	PALB2	c.3351-48G>T	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23615038C>A	(Likely) benign	1 lab	d52367f7ec
3:136002746 PCCB C>T	3	136002746	136002746	C	T	PCCB	c.611C>T	NM_000532.5	NP_000523.2:p.(Ala204Val)	NC_000003.11:g.136002746C>T	(Likely) pathogenic	1 lab	d5259e800d
2:241659338 KIF1A G>A	2	241659338	241659338	G	A	KIF1A	c.4874C>T	NM_001244008.2	NP_001230937.1:p.(Pro1625Leu)	NC_000002.11:g.241659338G>A	VUS	1 lab	127170c23e
18:46860167 DYM G>A	18	46860167	46860167	G	A	DYM	c.551C>T	NM_017653.3	NP_060123.3:p.(Ser184Phe)	NC_000018.9:g.46860167G>A	VUS	1 lab	d529dcc4f0
19:2421934 TMPRSS9 G>C	19	2421934	2421934	G	C	TMPRSS9	c.2135G>C	NM_182973.1	NP_892018.1:p.(Cys712Ser)	NC_000019.9:g.2421934G>C	VUS	1 lab	d529fdbcc7
4:3465134 DOK7 T>C	4	3465134	3465134	T	C	DOK7	c.32T>C	NM_173660.5	NP_775931.3:p.(Val11Ala)	NC_000004.11:g.3465134T>C	VUS	1 lab	d52ac1c396
22:36960790 CACNG2 C>T	22	36960790	36960790	C	T	CACNG2	c.580G>A	NM_006078.4	NP_006069.1:p.(Gly194Arg)	NC_000022.10:g.36960790C>T	VUS	1 lab	d52ba90c83
5:112128201 APC T>A	5	112128201	112128201	T	A	APC	c.704T>A	NM_000038.6	NP_000029.2:p.(Leu235Ter)	NC_000005.9:g.112128201T>A	(Likely) pathogenic	1 lab	d52ea67105
12:49447254 KMT2D C>T	12	49447254	49447254	C	T	KMT2D	c.839+5G>A	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49447254C>T	(Likely) benign	1 lab	1275aeff25
1:120458147 NOTCH2 G>A	1	120458147	120458147	G	A	NOTCH2	c.7198C>T	NM_024408.4	NP_077719.2:p.(Arg2400Ter)	NC_000001.10:g.120458147G>A	(Likely) pathogenic	1 lab	12782e07e5
X:153585850 FLNA G>A	X	153585850	153585850	G	A	FLNA	c.4897C>T	NM_001110556.2	NP_001104026.1:p.(Arg1633Cys)	NC_000023.10:g.153585850G>A	VUS	1 lab	d534c00a03
22:38121769 TRIOBP A>C	22	38121769	38121769	A	C	TRIOBP	c.3206A>C	NM_001039141.2	NP_001034230.1:p.(Asp1069Ala)	NC_000022.10:g.38121769A>C	VUS	1 lab	d53b41718d
6:32007948 CYP21A2 C>A	6	32007948	32007948	C	A	CYP21A2	c.905C>A	NM_000500.9	NP_000491.4:p.(Ser302Tyr)	NC_000006.11:g.32007948C>A	(Likely) pathogenic	1 lab	d53eb01104
X:8504945 ANOS1 G>T	X	8504945	8504945	G	T	ANOS1	c.1488C>A	NM_000216.4	NP_000207.2:p.(Cys496Ter)	NC_000023.10:g.8504945G>T	(Likely) pathogenic	1 lab	d5419c9d59
15:72639044 HEXA G>A	15	72639044	72639044	G	A	HEXA	c.1154C>T	NM_000520.4	NP_000511.2:p.(Pro385Leu)	NC_000015.9:g.72639044G>A	(Likely) pathogenic	1 lab	d548bb4376
17:47117365 IGF2BP1 A>T	17	47117365	47117365	A	T	IGF2BP1	c.730A>T	NM_006546.3	NP_006537.3:p.(Ile244Phe)	NC_000017.10:g.47117365A>T	VUS	1 lab	d549ce67d7
3:9512401 SETD5 C>T	3	9512401	9512401	C	T	SETD5	c.2983C>T	NM_001080517.2	NP_001073986.1:p.(Arg995Ter)	NC_000003.11:g.9512401C>T	(Likely) pathogenic	1 lab	d552642b1f
3:38674644 SCN5A G>T	3	38674644	38674644	G	T	SCN5A	c.155C>A	NM_198056.2	NP_932173.1:p.(Pro52His)	NC_000003.11:g.38674644G>T	VUS	1 lab	d5527e7d12
2:228172543 COL4A3 T>C	2	228172543	228172543	T	C	COL4A3	c.4370T>C	NM_000091.4	NP_000082.2:p.(Ile1457Thr)	NC_000002.11:g.228172543T>C	VUS	1 lab	d5558fd457
17:40485975 STAT3 G>A	17	40485975	40485975	G	A	STAT3	c.890C>T	NM_139276.2	NP_644805.1:p.(Pro297Leu)	NC_000017.10:g.40485975G>A	VUS	1 lab	d55ba859bb
7:121755179 AASS G>A	7	121755179	121755179	G	A	AASS	c.992C>T	NM_005763.3	NP_005754.2:p.(Pro331Leu)	NC_000007.13:g.121755179G>A	VUS	1 lab	d55c0e2ec6
3:158369943 GFM1 C>T	3	158369943	158369943	C	T	GFM1	c.748C>T	NM_024996.5	NP_079272.4:p.(Arg250Trp)	NC_000003.11:g.158369943C>T	(Likely) pathogenic	1 lab	d55c7bff22
11:66459006 SPTBN2 C>T	11	66459006	66459006	C	T	SPTBN2	c.5314G>A	NM_006946.4	NP_008877.2:p.(Val1772Met)	NC_000011.9:g.66459006C>T	VUS	1 lab	127bee8f51
20:2841902 VPS16 G>A	20	2841902	2841902	G	A	VPS16	c.785G>A	NM_022575.4	NP_072097.2:p.(Arg262Gln)	NC_000020.10:g.2841902G>A	VUS	1 lab	127cde36a1
12:132393711 ULK1 G>A	12	132393711	132393711	G	A	ULK1	c.595G>A	NM_003565.2	NP_003556.1:p.(Asp199Asn)	NC_000012.11:g.132393711G>A	VUS	1 lab	d56113b0ac
16:56906678 SLC12A3 A>C	16	56906678	56906678	A	C	SLC12A3	c.1075A>C	NM_000339.2	NP_000330.2:p.(Asn359His)	NC_000016.9:g.56906678A>C	(Likely) pathogenic	1 lab	d562bd35b4
2:167108386 SCN9A G>A	2	167108386	167108386	G	A	SCN9A	c.3328C>T	NM_002977.3	NP_002968.1:p.(Arg1110Trp)	NC_000002.11:g.167108386G>A	(Likely) benign	1 lab	d56775e633
1:207933048 CD46 G>T	1	207933048	207933048	G	T	CD46	c.454G>T	NM_002389.4	NP_002380.3:p.(Gly152Cys)	NC_000001.10:g.207933048G>T	VUS	1 lab	d567bef671
7:23164701 KLHL7 C>T	7	23164701	23164701	C	T	KLHL7	c.352C>T	NM_001031710.3	NP_001026880.2:p.(Leu118=)	NC_000007.13:g.23164701C>T	(Likely) benign	1 lab	d56ee21bbd
3:189586418 TP63 C>G	3	189586418	189586418	C	G	TP63	c.1042C>G	NM_003722.4	NP_003713.3:p.(Pro348Ala)	NC_000003.11:g.189586418C>G	(Likely) pathogenic	1 lab	d56f484bb5
12:121880461 KDM2B T>A	12	121880461	121880461	T	A	KDM2B	c.2783A>T	NM_032590.5	NP_115979.3:p.(Glu928Val)	NC_000012.11:g.121880461T>A	(Likely) benign	1 lab	127dc42781
5:137219193 MYOT G>A	5	137219193	137219193	G	A	MYOT	c.937G>A	NM_006790.2	NP_006781.1:p.(Val313Ile)	NC_000005.9:g.137219193G>A	(Likely) benign	1 lab	d5741046c6
7:128491585 FLNC C>T	7	128491585	128491585	C	T	FLNC	c.5745C>T	NM_001458.4	NP_001449.3:p.(Thr1915=)	NC_000007.13:g.128491585C>T	(Likely) benign	1 lab	1531cb4989
18:44104733 LOXHD1 A>G	18	44104733	44104733	A	G	LOXHD1	c.4678T>C	NM_144612.6	NP_653213.6:p.(Cys1560Arg)	NC_000018.9:g.44104733A>G	VUS	1 lab	d5780f9268
16:57949173 CNGB1 G>A	16	57949173	57949173	G	A	CNGB1	c.2284C>T	NM_001297.5	NP_001288.3:p.(Arg762Cys)	NC_000016.9:g.57949173G>A	(Likely) pathogenic	1 lab	d57b23daad
17:41256884 BRCA1 C>CGTAA	17	41256884	41256885	C	CGTAA	BRCA1	c.301_301+1insTTAC	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41256884_41256885insGTAA	(Likely) pathogenic	1 lab	d57bcdcc55
1:6512017 ESPN C>A	1	6512017	6512017	C	A	ESPN	c.2186C>A	NM_031475.2	NP_113663.2:p.(Ala729Glu)	NC_000001.10:g.6512017C>A	VUS	1 lab	d57e4d0497
22:41320486 XPNPEP3 G>A	22	41320486	41320486	G	A	XPNPEP3	c.1357G>A	NM_022098.4	NP_071381.1:p.(Gly453Ser)	NC_000022.10:g.41320486G>A	(Likely) pathogenic	1 lab	d5817e0727
2:179659863 TTN G>C	2	179659863	179659863	G	C	TTN	c.1031C>G	NM_001267550.2	NP_001254479.2:p.(Pro344Arg)	NC_000002.11:g.179659863G>C	VUS	1 lab	d5867381e2
12:57966454 KIF5A T>C	12	57966454	57966454	T	C	KIF5A	c.1661T>C	NM_004984.2	NP_004975.2:p.(Leu554Pro)	NC_000012.11:g.57966454T>C	VUS	1 lab	d58818d008
11:32413565 WT1 C>A	11	32413565	32413565	C	A	WT1				NC_000011.9:g.32413565C>A	(Likely) pathogenic	1 lab	d58ceff38b
7:143036416 CLCN1 G>C	7	143036416	143036416	G	C	CLCN1	c.1471+1G>C	NM_000083.2	NP_000074.2:p.?	NC_000007.13:g.143036416G>C	(Likely) pathogenic	1 lab	d58f0ce8c3
2:167322505 SCN7A G>A	2	167322505	167322505	G	A	SCN7A	c.665-8C>T	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167322505G>A	(Likely) benign	1 lab	d591445915
11:47364199 MYBPC3 C>T	11	47364199	47364199	C	T	MYBPC3	c.1554G>A	NM_000256.3	NP_000247.2:p.(Met518Ile)	NC_000011.9:g.47364199C>T	(Likely) benign	1 lab	d592a648cb
1:151378327 POGZ C>T	1	151378327	151378327	C	T	POGZ				NC_000001.10:g.151378327C>T	(Likely) pathogenic	1 lab	d59529a4c2
15:73616453 HCN4 G>A	15	73616453	73616453	G	A	HCN4	c.2120C>T	NM_005477.3	NP_005468.1:p.(Ala707Val)	NC_000015.9:g.73616453G>A	VUS	1 lab	15341622d9
16:89350411 ANKRD11 C>G	16	89350411	89350411	C	G	ANKRD11	c.2539G>C	NM_013275.5	NP_037407.4:p.(Asp847His)	NC_000016.9:g.89350411C>G	(Likely) benign	1 lab	d596e0a13c
10:121429637 BAG3 G>A	10	121429637	121429637	G	A	BAG3	c.455G>A	NM_004281.3	NP_004272.2:p.(Gly152Glu)	NC_000010.10:g.121429637G>A	(Likely) benign	1 lab	d5989d37ef
X:67268292 OPHN1 C>T	X	67268292	67268292	C	T	OPHN1	c.2383G>A	NM_002547.2	NP_002538.1:p.(Gly795Ser)	NC_000023.10:g.67268292C>T	VUS	1 lab	d5998665dc
2:27305277 EMILIN1 G>A	2	27305277	27305277	G	A	EMILIN1	c.838G>A	NM_007046.4	NP_008977.1:p.(Ala280Thr)	NC_000002.11:g.27305277G>A	(Likely) benign	1 lab	15345c19f6
17:54671586 NOG T>C	17	54671586	54671586	T	C	NOG	c.2T>C	NM_005450.4	NP_005441.1:p.(Met1?)	NC_000017.10:g.54671586T>C	(Likely) pathogenic	1 lab	d59e14f746
3:87313449 POU1F1 C>T	3	87313449	87313449	C	T	POU1F1	c.428G>A	NM_000306.4	NP_000297.1:p.(Arg143Gln)	NC_000003.11:g.87313449C>T	(Likely) pathogenic	1 lab	d59ed27c2e
1:19018305 PAX7 G>T	1	19018305	19018305	G	T	PAX7	c.644G>T	NM_002584.2	NP_002575.1:p.(Arg215Leu)	NC_000001.10:g.19018305G>T	VUS	1 lab	d5a08c2ecb
X:53350153 IQSEC2 C>A	X	53350153	53350153	C	A	IQSEC2	c.169G>T	NM_001111125.2	NP_001104595.1:p.(Glu57Ter)	NC_000023.10:g.53350153C>A	(Likely) pathogenic	1 lab	d5a2d9061d
12:6128304 VWF A>G	12	6128304	6128304	A	G	VWF	c.4280T>C	NM_000552.5	NP_000543.3:p.(Leu1427Pro)	NC_000012.11:g.6128304A>G	VUS	1 lab	d5a314c3ad
16:70310903 AARS1 A>G	16	70310903	70310903	A	G	AARS1	c.299T>C	NM_001605.2	NP_001596.2:p.(Met100Thr)	NC_000016.9:g.70310903A>G	VUS	1 lab	d5a64ca0c7
1:196695765 CFH C>A	1	196695765	196695765	C	A	CFH				NC_000001.10:g.196695765C>A	VUS	1 lab	d5a88e518c
3:182738001 MCCC1 G>A	3	182738001	182738001	G	A	MCCC1	c.1894C>T	NM_020166.5	NP_064551.3:p.(Pro632Ser)	NC_000003.11:g.182738001G>A	(Likely) benign	1 lab	d5a94b7b9b
1:43395453 SLC2A1 T>C	1	43395453	43395453	T	C	SLC2A1	c.680-2A>G	NM_006516.2	NP_006507.2:p.?	NC_000001.10:g.43395453T>C	(Likely) pathogenic	1 lab	d5aa42f76f
6:15501555 MISSING G>A	6	15501555	15501555	G	A	MISSING				NC_000006.11:g.15501555G>A	VUS	1 lab	d5aabbfb59
19:10923001 DNM2 A>G	19	10923001	10923001	A	G	DNM2	c.1619A>G	NM_001005361.2	NP_001005361.1:p.(Glu540Gly)	NC_000019.9:g.10923001A>G	VUS	1 lab	d5abb138e9
1:103343718 COL11A1 T>C	1	103343718	103343718	T	C	COL11A1	c.5278A>G	NM_001854.4	NP_001845.3:p.(Arg1760Gly)	NC_000001.10:g.103343718T>C	VUS	1 lab	d5abba0ff0
1:17354255 SDHB G>A	1	17354255	17354255	G	A	SDHB	c.529C>T	NM_003000.3	NP_002991.2:p.(Arg177Cys)	NC_000001.10:g.17354255G>A	VUS	1 lab	d5ae3c2629
2:32340804 SPAST T>G	2	32340804	32340804	T	G	SPAST	c.904T>G	NM_014946.3	NP_055761.2:p.(Ser302Ala)	NC_000002.11:g.32340804T>G	VUS	1 lab	d5af3cc733
3:38640352 SCN5A AGAT>A	3	38640352	38640357	AGAT	A	SCN5A	c.2023+54_2023+56del	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38640355_38640357del	(Likely) benign	1 lab	d5aff73f68
15:65370323 KBTBD13 G>C	15	65370323	65370323	G	C	KBTBD13	c.1170G>C	NM_001101362.2	NP_001094832.1:p.(Lys390Asn)	NC_000015.9:g.65370323G>C	VUS	1 lab	d5b074716d
2:166019242 SCN3A A>G	2	166019242	166019242	A	G	SCN3A	c.791T>C	NM_006922.4	NP_008853.3:p.(Ile264Thr)	NC_000002.11:g.166019242A>G	VUS	1 lab	d5ba3581aa
2:48027671 MSH6 A>G	2	48027671	48027671	A	G	MSH6	c.2549A>G	NM_000179.3	NP_000170.1:p.(Tyr850Cys)	NC_000002.11:g.48027671A>G	VUS	1 lab	12888f972a
4:126370128 FAT4 G>A	4	126370128	126370128	G	A	FAT4	c.7957G>A	NM_024582.4	NP_078858.4:p.(Glu2653Lys)	NC_000004.11:g.126370128G>A	VUS	1 lab	d5c03a8669
6:76660271 IMPG1 C>T	6	76660271	76660271	C	T	IMPG1	c.1824+8G>A	NM_001563.3	NP_001554.2:p.?	NC_000006.11:g.76660271C>T	(Likely) benign	1 lab	d5c1126762
7:140453192 BRAF A>C	7	140453192	140453192	A	C	BRAF	c.1743T>G	NM_001354609.1	NP_001341538.1:p.(Asn581Lys)	NC_000007.13:g.140453192A>C	(Likely) pathogenic	1 lab	d5c13ad00b
2:228128677 COL4A3 G>A	2	228128677	228128677	G	A	COL4A3	c.1315+17G>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228128677G>A	(Likely) benign	1 lab	d5c14c4cad
X:80001086 BRWD3 G>A	X	80001086	80001086	G	A	BRWD3	c.573C>T	NM_153252.5	NP_694984.5:p.(Ser191=)	NC_000023.10:g.80001086G>A	(Likely) benign	1 lab	128a22afd4
11:47364220 MYBPC3 G>T	11	47364220	47364220	G	T	MYBPC3	c.1533C>A	NM_000256.3	NP_000247.2:p.(His511Gln)	NC_000011.9:g.47364220G>T	(Likely) benign	1 lab	d5cbdb9e7d
2:228124590 COL4A3 C>T	2	228124590	228124590	C	T	COL4A3	c.1111C>T	NM_000091.5	NP_000082.2:p.(Gln371Ter)	NC_000002.11:g.228124590C>T	(Likely) pathogenic	1 lab	d5cd31469b
1:17318787 ATP13A2 G>A	1	17318787	17318787	G	A	ATP13A2	c.1956C>T	NM_022089.4	NP_071372.1:p.(Tyr652=)	NC_000001.10:g.17318787G>A	(Likely) benign	1 lab	128aa6efed
2:179485006 TTN G>T	2	179485006	179485006	G	T	TTN	c.46242C>A	NM_001267550.2	NP_001254479.2:p.(Leu15414=)	NC_000002.11:g.179485006G>T	(Likely) benign	1 lab	d5cfa316f1
X:153609396 EMD A>C	X	153609396	153609396	A	C	EMD	c.604A>C	NM_000117.2	NP_000108.1:p.(Thr202Pro)	NC_000023.10:g.153609396A>C	VUS	1 lab	d5d41a481c
2:179419312 TTN A>C	2	179419312	179419312	A	C	TTN	c.88762T>G	NM_001267550.2	NP_001254479.2:p.(Leu29588Val)	NC_000002.11:g.179419312A>C	(Likely) benign	1 lab	d5d8997b92
X:54224917 WNK3 G>A	X	54224917	54224917	G	A	WNK3	c.5243C>T	NM_020922.5	NP_065973.2:p.(Ala1748Val)	NC_000023.10:g.54224917G>A	(Likely) benign	1 lab	128cd0e1d6
13:20763542 GJB2 C>A	13	20763542	20763542	C	A	GJB2	c.179G>T	NM_004004.6	NP_003995.2:p.(Cys60Phe)	NC_000013.10:g.20763542C>A	VUS	1 lab	d5e09312e8
7:98987647 ARPC1B C>T	7	98987647	98987647	C	T	ARPC1B	c.500+12C>T	NM_005720.4	NP_005711.1:p.?	NC_000007.13:g.98987647C>T	(Likely) benign	1 lab	1538df4f3a
1:228556543 OBSCN G>A	1	228556543	228556543	G	A	OBSCN	c.22759G>A	NM_001386125.1	NP_001373054.1:p.(Val7587Ile)	NC_000001.10:g.228556543G>A	VUS	1 lab	128d1c6187
4:111539596 PITX2 T>G	4	111539596	111539596	T	G	PITX2	c.660A>C	NM_000325.5	NP_000316.2:p.(Pro220=)	NC_000004.11:g.111539596T>G	(Likely) benign	1 lab	d5e4e8a1e3
2:179416764 TTN T>G	2	179416764	179416764	T	G	TTN	c.90863A>C	NM_001267550.2	NP_001254479.2:p.(Asn30288Thr)	NC_000002.11:g.179416764T>G	VUS	1 lab	d5e7104d22
5:112175587 APC AC>A	5	112175587	112175589	AC	A	APC	c.4298del	NM_000038.6	NP_000029.2:p.(Pro1433GlnfsTer40)	NC_000005.9:g.112175589del	(Likely) pathogenic	1 lab	d5ef2ba420
3:70008443 MITF G>A	3	70008443	70008443	G	A	MITF	c.730G>A	NM_000248.3	NP_000239.1:p.(Gly244Arg)	NC_000003.11:g.70008443G>A	VUS	1 lab	d5f2302ca0
3:100963098 IMPG2 TA>T	3	100963098	100963099	TA	T	IMPG2	c.2076del	NM_016247.4	NP_057331.2:p.(Asp692GlufsTer9)	NC_000003.11:g.100963099del	(Likely) pathogenic	1 lab	d5f45b2d3d
1:228559551 OBSCN G>A	1	228559551	228559551	G	A	OBSCN	c.23943G>A	NM_001271223.2	NP_001258152.2:p.(Pro7981=)	NC_000001.10:g.228559551G>A	(Likely) benign	1 lab	d5f4706a9d
16:9858587 GRIN2A C>G	16	9858587	9858587	C	G	GRIN2A	c.2814G>C	NM_000833.5	NP_000824.1:p.(Lys938Asn)	NC_000016.9:g.9858587C>G	VUS	1 lab	1292401d26
19:38945993 RYR1 T>C	19	38945993	38945993	T	C	RYR1	c.1559T>C	NM_000540.2	NP_000531.2:p.(Leu520Pro)	NC_000019.9:g.38945993T>C	VUS	1 lab	d5f7bd1760
22:37319293 CSF2RB C>T	22	37319293	37319293	C	T	CSF2RB	c.84C>T	NM_000395.3	NP_000386.1:p.(Ile28=)	NC_000022.10:g.37319293C>T	(Likely) benign	1 lab	153a271452
9:98215814 PTCH1 G>A	9	98215814	98215814	G	A	PTCH1	c.3197C>T	NM_001083602.3	NP_001077071.1:p.(Ser1066Phe)	NC_000009.11:g.98215814G>A	VUS	1 lab	1294102f17
2:152426612 NEB AG>A	2	152426612	152426614	AG	A	NEB	c.17412del	NM_001164507.1	NP_001157979.1:p.(Tyr5805ThrfsTer48)	NC_000002.11:g.152426614del	(Likely) pathogenic	1 lab	d5f84f2599
X:43601212 MAOA G>C	X	43601212	43601212	G	C	MAOA				NC_000023.10:g.43601212G>C	VUS	1 lab	d5f956423e
19:11024611 CARM1 A>G	19	11024611	11024611	A	G	CARM1	c.728A>G	NM_199141.1	NP_954592.1:p.(Glu243Gly)	NC_000019.9:g.11024611A>G	VUS	1 lab	d5fb530619
19:36336625 NPHS1 A>G	19	36336625	36336625	A	G	NPHS1	c.1703T>C	NM_004646.3	NP_004637.1:p.(Val568Ala)	NC_000019.9:g.36336625A>G	(Likely) benign	1 lab	d5fcfb7366
11:68216290 LRP5 C>T	11	68216290	68216290	C	T	LRP5	c.4600C>T	NM_002335.3	NP_002326.2:p.(Arg1534Ter)	NC_000011.9:g.68216290C>T	VUS	1 lab	d5fe703f53
16:53691391 RPGRIP1L G>A	16	53691391	53691391	G	A	RPGRIP1L	c.1555C>T	NM_001308334.3	NP_001295263.1:p.(Gln519Ter)	NC_000016.9:g.53691391G>A	(Likely) pathogenic	1 lab	1295608a74
5:1879880 IRX4 C>T	5	1879880	1879880	C	T	IRX4	c.552G>A	NM_001278633.1	NP_001265562.1:p.(Lys184=)	NC_000005.9:g.1879880C>T	(Likely) benign	1 lab	d60071c456
1:228563526 OBSCN GTA>G	1	228563526	228563529	GTA	G	OBSCN	c.25657+3_25657+4del	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228563528_228563529del	(Likely) benign	1 lab	d60143bf90
3:38618080 SCN5A A>G	3	38618080	38618080	A	G	SCN5A	c.3511+72T>C	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38618080A>G	(Likely) benign	1 lab	d6024ff472
X:53265635 IQSEC2 G>C	X	53265635	53265635	G	C	IQSEC2	c.3320C>G	NM_001111125.2	NP_001104595.1:p.(Ser1107Ter)	NC_000023.10:g.53265635G>C	(Likely) pathogenic	1 lab	d6035c4f07
6:31839149 SLC44A4 G>C	6	31839149	31839149	G	C	SLC44A4	c.643C>G	NM_025257.2	NP_079533.2:p.(Arg215Gly)	NC_000006.11:g.31839149G>C	VUS	1 lab	d604a9a7c5
3:169482733 TERC G>C	3	169482733	169482733	G	C	TERC	n.116C>G	NR_001566.1		NC_000003.11:g.169482733G>C	(Likely) pathogenic	1 lab	d605fe7d52
12:133212476 POLE A>G	12	133212476	133212476	A	G	POLE	c.5811+2T>C	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133212476A>G	VUS	1 lab	d60bf1a91f
11:120983762 TECTA G>A	11	120983762	120983762	G	A	TECTA	c.487-19G>A	NM_005422.2	NP_005413.2:p.?	NC_000011.9:g.120983762G>A	(Likely) benign	1 lab	d60d1718e3
3:151163122 IGSF10 AGAATGTAACAGATTAGAGTAGATGAAGTGAGTGGTTCCAATTGTGAACTTGGC>A	3	151163122	151163175	AGAATGTAACAGATTAGAGTAGATGAAGTGAGTGGTTCCAATTGTGAACTTGGC	A	IGSF10	c.4594_4646del	NM_178822.5	NP_849144.2:p.(Ala1532TyrfsTer10)	NC_000003.11:g.151163123_151163175del	(Likely) pathogenic	1 lab	d60fed1bac
2:220431631 OBSL1 G>T	2	220431631	220431631	G	T	OBSL1	c.2055C>A	NM_015311.2	NP_056126.1:p.(Ala685=)	NC_000002.11:g.220431631G>T	(Likely) benign	1 lab	d6116456f1
5:71495201 MAP1B T>C	5	71495201	71495201	T	C	MAP1B	c.6019T>C	NM_005909.5	NP_005900.2:p.(Ser2007Pro)	NC_000005.9:g.71495201T>C	VUS	1 lab	d613bd6b22
22:42610347 TCF20 T>TG	22	42610347	42610348	T	TG	TCF20	c.964dup	NM_005650.3	NP_005641.1:p.(Gln322ProfsTer12)	NC_000022.10:g.42610348dup	(Likely) pathogenic	1 lab	d616ebf663
17:40474492 STAT3 C>G	17	40474492	40474492	C	G	STAT3	c.1909G>C	NM_139276.2	NP_644805.1:p.(Val637Leu)	NC_000017.10:g.40474492C>G	(Likely) pathogenic	1 lab	d616ecbffb
7:19156570 TWIST1 G>C	7	19156570	19156570	G	C	TWIST1	c.375C>G	NM_000474.3	NP_000465.1:p.(Asn125Lys)	NC_000007.13:g.19156570G>C	VUS	1 lab	d6170eaadf
7:6017220 PMS2 G>A	7	6017220	6017220	G	A	PMS2	c.2444C>T	NM_000535.5	NP_000526.1:p.(Ser815Leu)	NC_000007.13:g.6017220G>A	(Likely) pathogenic	1 lab	d6175a7219
19:41201897 COQ8B G>GATGT	19	41201897	41201902	G	GATGT	COQ8B	c.1202_1205dup	NM_024876.4	NP_079152.3:p.(Glu403HisfsTer9)	NC_000019.9:g.41201899_41201902dup	(Likely) pathogenic	1 lab	d61cdc7353
2:121742162 GLI2 G>A	2	121742162	121742162	G	A	GLI2	c.1799G>A	NM_005270.4	NP_005261.2:p.(Arg600His)	NC_000002.11:g.121742162G>A	VUS	1 lab	d61e4a25c5
8:72229859 EYA1 C>A	8	72229859	72229859	C	A	EYA1	c.484G>T	NM_000503.6	NP_000494.2:p.(Gly162Ter)	NC_000008.10:g.72229859C>A	(Likely) pathogenic	1 lab	d61f4221b3
12:57496661 STAT6 T>C	12	57496661	57496661	T	C	STAT6	c.1256A>G	NM_001178078.1	NP_001171549.1:p.(Asp419Gly)	NC_000012.11:g.57496661T>C	(Likely) pathogenic	1 lab	d61f4a8fe2
3:57902661 SLMAP A>G	3	57902661	57902661	A	G	SLMAP	c.2167A>G	NM_001377540.1	NP_001364469.1:p.(Ser723Gly)	NC_000003.11:g.57902661A>G	(Likely) benign	1 lab	d61f8a9108
21:44836938 SIK1 G>A	21	44836938	44836938	G	A	SIK1	c.2036C>T	NM_173354.5	NP_775490.2:p.(Pro679Leu)	NC_000021.8:g.44836938G>A	(Likely) benign	1 lab	153d3d67b1
10:97442422 TCTN3 G>A	10	97442422	97442422	G	A	TCTN3	c.1438C>T	NM_015631.5	NP_056446.4:p.(His480Tyr)	NC_000010.10:g.97442422G>A	(Likely) pathogenic	1 lab	d620a28158
X:85213965 CHM T>A	X	85213965	85213965	T	A	CHM	c.720A>T	NM_000390.2	NP_000381.1:p.(Gly240=)	NC_000023.10:g.85213965T>A	(Likely) benign	1 lab	d621f2d817
17:7577549 TP53 GC>G	17	7577549	7577552	GC	G	TP53	c.731del	NM_000546.5	NP_000537.3:p.(Gly244AlafsTer3)	NC_000017.10:g.7577552del	(Likely) pathogenic	1 lab	d623a6ab72
12:49580448 TUBA1A C>T	12	49580448	49580448	C	T	TUBA1A	c.172G>A	NM_006009.3	NP_006000.2:p.(Ala58Thr)	NC_000012.11:g.49580448C>T	(Likely) pathogenic	1 lab	d625008f2a
4:88537457 DSPP G>A	4	88537457	88537457	G	A	DSPP	c.3643G>A	NM_014208.3	NP_055023.2:p.(Asp1215Asn)	NC_000004.11:g.88537457G>A	(Likely) benign	1 lab	d62977520c
12:32955450 PKP2 C>T	12	32955450	32955450	C	T	PKP2	c.2186G>A	NM_004572.3	NP_004563.2:p.(Ser729Asn)	NC_000012.11:g.32955450C>T	(Likely) benign	1 lab	d62b84c23a
3:170732300 SLC2A2 G>A	3	170732300	170732300	G	A	SLC2A2	c.329C>T	NM_000340.1	NP_000331.1:p.(Thr110Ile)	NC_000003.11:g.170732300G>A	(Likely) benign	1 lab	d62be6f6bf
12:116401311 MED13L T>C	12	116401311	116401311	T	C	MED13L	c.6401A>G	NM_015335.5	NP_056150.1:p.(His2134Arg)	NC_000012.11:g.116401311T>C	VUS	1 lab	d62c554f86
11:61727438 BEST1 C>T	11	61727438	61727438	C	T	BEST1	c.1023C>T	NM_004183.3	NP_004174.1:p.(Pro341=)	NC_000011.9:g.61727438C>T	(Likely) benign	1 lab	d62f8909b3
2:179494979 TTN A>C	2	179494979	179494979	A	C	TTN	c.44270T>G	NM_001267550.2	NP_001254479.2:p.(Leu14757Arg)	NC_000002.11:g.179494979A>C	VUS	1 lab	d630c4f27a
10:112572560 RBM20 G>T	10	112572560	112572560	G	T	RBM20	c.2405G>T	NM_001134363.3	NP_001127835.2:p.(Gly802Val)	NC_000010.10:g.112572560G>T	(Likely) benign	1 lab	d630fc7b17
3:47888354 DHX30 C>T	3	47888354	47888354	C	T	DHX30	c.1792C>T	NM_138615.3	NP_619520.1:p.(Arg598Cys)	NC_000003.11:g.47888354C>T	VUS	1 lab	d633911e62
17:78086806 GAA CACA>C	17	78086806	78086812	CACA	C	GAA	c.2024_2026del	NM_000152.4	NP_000143.2:p.(Asn675del)	NC_000017.10:g.78086810_78086812del	(Likely) pathogenic	1 lab	d635a23a4d
7:92730928 SAMD9 T>A	7	92730928	92730928	T	A	SAMD9	c.4483A>T	NM_017654.4	NP_060124.2:p.(Lys1495Ter)	NC_000007.13:g.92730928T>A	VUS	1 lab	d639478520
2:44531305 SLC3A1 CAG>C	2	44531305	44531311	CAG	C	SLC3A1	c.1165_1166del	NM_000341.4	NP_000332.2:p.(Ser389TyrfsTer2)	NC_000002.11:g.44531310_44531311del	(Likely) pathogenic	1 lab	d63e55012b
10:73156823 CDH23 G>A	10	73156823	73156823	G	A	CDH23	c.-258G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73156823G>A	(Likely) benign	1 lab	d6451ba30a
6:64498055 EYS T>A	6	64498055	64498055	T	A	EYS	c.7666A>T	NM_001142800.1	NP_001136272.1:p.(Ser2556Cys)	NC_000006.11:g.64498055T>A	(Likely) benign	1 lab	d648f06210
3:37089173 MLH1 A>G	3	37089173	37089173	A	G	MLH1	c.1895A>G	NM_000249.3	NP_000240.1:p.(Glu632Gly)	NC_000003.11:g.37089173A>G	VUS	1 lab	d649f0979b
14:102476659 DYNC1H1 C>T	14	102476659	102476659	C	T	DYNC1H1	c.6268C>T	NM_001376.5	NP_001367.2:p.(Leu2090Phe)	NC_000014.8:g.102476659C>T	(Likely) pathogenic	1 lab	d64adb32f9
10:73567103 CDH23 G>A	10	73567103	73567103	G	A	CDH23	c.8248G>A	NM_022124.5	NP_071407.4:p.(Val2750Met)	NC_000010.10:g.73567103G>A	VUS	1 lab	d64c5c4730
16:89357512 ANKRD11 C>G	16	89357512	89357512	C	G	ANKRD11				NC_000016.9:g.89357512C>G	(Likely) benign	1 lab	d64de90ab1
11:120989335 TECTA A>G	11	120989335	120989335	A	G	TECTA	c.1111A>G	NM_005422.4	NP_005413.2:p.(Arg371Gly)	NC_000011.9:g.120989335A>G	(Likely) benign	1 lab	d650e50f8c
6:31911198 C2 GA>G	6	31911198	31911199	GA	G	C2	c.1462del	NM_000063.6	NP_000054.2:p.(Ser488AlafsTer16)	NC_000006.11:g.31911199del	(Likely) pathogenic	1 lab	d651191e9d
X:62893977 ARHGEF9 G>A	X	62893977	62893977	G	A	ARHGEF9	c.865C>T	NM_015185.3	NP_056000.1:p.(Arg289Ter)	NC_000023.10:g.62893977G>A	(Likely) pathogenic	1 lab	d655025cdc
4:155491623 FGB T>C	4	155491623	155491623	T	C	FGB	c.1297T>C	NM_005141.5	NP_005132.2:p.(Trp433Arg)	NC_000004.11:g.155491623T>C	(Likely) pathogenic	1 lab	d656747d46
2:48025743 MSH6 C>A	2	48025743	48025743	C	A	MSH6	c.628-7C>A	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48025743C>A	(Likely) benign	1 lab	1296e2308f
3:150845649 MED12L A>G	3	150845649	150845649	A	G	MED12L	c.434A>G	NM_053002.4	NP_443728.3:p.(Tyr145Cys)	NC_000003.11:g.150845649A>G	(Likely) benign	1 lab	d65a734823
16:3304678 MEFV G>A	16	3304678	3304678	G	A	MEFV	c.390C>T	NM_000243.2	NP_000234.1:p.(Asn130=)	NC_000016.9:g.3304678G>A	(Likely) benign	1 lab	15468749e4
6:64472506 EYS C>T	6	64472506	64472506	C	T	EYS	c.7919G>A	NM_001142800.2	NP_001136272.1:p.(Trp2640Ter)	NC_000006.11:g.64472506C>T	(Likely) pathogenic	1 lab	d65c47a54f
1:215847857 USH2A G>A	1	215847857	215847857	G	A	USH2A	c.13396C>T	NM_206933.2	NP_996816.2:p.(Pro4466Ser)	NC_000001.10:g.215847857G>A	(Likely) pathogenic	1 lab	d65cdb770c
16:68835753 CDH1 C>T	16	68835753	68835753	C	T	CDH1	c.344C>T	NM_004360.5	NP_004351.1:p.(Thr115Met)	NC_000016.9:g.68835753C>T	(Likely) benign	1 lab	d6617dd00a
20:18038648 OVOL2 A>G	20	18038648	18038648	A	G	OVOL2				NC_000020.10:g.18038648A>G	(Likely) pathogenic	1 lab	d663ee17b1
3:38770189 SCN10A G>A	3	38770189	38770189	G	A	SCN10A	c.2484C>T	NM_006514.3	NP_006505.3:p.(Pro828=)	NC_000003.11:g.38770189G>A	(Likely) benign	1 lab	d665216189
15:93499686 CHD2 T>C	15	93499686	93499686	T	C	CHD2	c.1810-3T>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93499686T>C	(Likely) benign	1 lab	129728c152
15:38647811 SPRED1 G>A	15	38647811	38647811	G	A	SPRED1	c.*3946G>A	NM_152594.3	NP_689807.1:p.?	NC_000015.9:g.38647811G>A	(Likely) benign	1 lab	d6763b2670
4:187117161 CYP4V2 T>C	4	187117161	187117161	T	C	CYP4V2	c.332T>C	NM_207352.4	NP_997235.3:p.(Ile111Thr)	NC_000004.11:g.187117161T>C	(Likely) pathogenic	1 lab	d67707dce0
17:33428487 RAD51D A>G	17	33428487	33428487	A	G	RAD51D	c.739-103T>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33428487A>G	(Likely) benign	1 lab	d67fa20886
3:195796414 TFRC C>T	3	195796414	195796414	C	T	TFRC	c.713G>A	NM_003234.3	NP_003225.2:p.(Gly238Asp)	NC_000003.11:g.195796414C>T	VUS	1 lab	d67fbd91e0
5:1280359 TERT G>A	5	1280359	1280359	G	A	TERT	c.1864C>T	NM_198253.3	NP_937983.2:p.(Arg622Cys)	NC_000005.9:g.1280359G>A	(Likely) pathogenic	1 lab	d68298f7b4
2:230663741 TRIP12 G>A	2	230663741	230663741	G	A	TRIP12	c.3332C>T	NM_001348323.3	NP_001335252.1:p.(Ser1111Leu)	NC_000002.11:g.230663741G>A	(Likely) benign	1 lab	d6831427a7
15:73660155 HCN4 C>T	15	73660155	73660155	C	T	HCN4	c.457G>A	NM_005477.3	NP_005468.1:p.(Glu153Lys)	NC_000015.9:g.73660155C>T	VUS	1 lab	d6884d98cb
18:2700624 SMCHD1 AT>A	18	2700624	2700625	AT	A	SMCHD1	c.1431del	NM_015295.2	NP_056110.2:p.(Asn477LysfsTer4)	NC_000018.9:g.2700625del	(Likely) pathogenic	1 lab	d68c3e1c8e
2:26684722 OTOF C>T	2	26684722	26684722	C	T	OTOF	c.5375G>A	NM_194248.2	NP_919224.1:p.(Arg1792His)	NC_000002.11:g.26684722C>T	VUS	1 lab	d695a88208
7:128477316 FLNC A>G	7	128477316	128477316	A	G	FLNC	c.699+5A>G	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128477316A>G	(Likely) benign	1 lab	d697277048
12:21919344 KCNJ8 A>G	12	21919344	21919344	A	G	KCNJ8	c.588T>C	NM_004982.4	NP_004973.1:p.(His196=)	NC_000012.11:g.21919344A>G	(Likely) benign	1 lab	1547480918
16:8999103 USP7 AG>A	16	8999103	8999105	AG	A	USP7	c.1513del	NM_003470.3	NP_003461.2:p.(Leu505CysfsTer12)	NC_000016.9:g.8999105del	(Likely) pathogenic	1 lab	d6988ef5db
2:179458363 TTN T>C	2	179458363	179458363	T	C	TTN	c.58664A>G	NM_001267550.2	NP_001254479.2:p.(His19555Arg)	NC_000002.11:g.179458363T>C	(Likely) benign	1 lab	d699ce13bd
15:23049088 NIPA1 T>C	15	23049088	23049088	T	C	NIPA1	c.731A>G	NM_144599.4	NP_653200.2:p.(Gln244Arg)	NC_000015.9:g.23049088T>C	(Likely) pathogenic	1 lab	d69b185c13
6:7562928 DSP T>C	6	7562928	7562928	T	C	DSP	c.641T>C	NM_004415.4	NP_004406.2:p.(Val214Ala)	NC_000006.11:g.7562928T>C	VUS	1 lab	d69edd6353
13:60557941 DIAPH3 T>A	13	60557941	60557941	T	A	DIAPH3	c.1442A>T	NM_001042517.2	NP_001035982.1:p.(Tyr481Phe)	NC_000013.10:g.60557941T>A	VUS	1 lab	d69f0ef903
3:37092233 LRRFIP2 A>G	3	37092233	37092233	A	G	LRRFIP2				NC_000003.11:g.37092233A>G	VUS	1 lab	d6a08cb2be
7:91708951 AKAP9 C>T	7	91708951	91708951	C	T	AKAP9	c.7504C>T	NM_005751.4	NP_005742.4:p.(Leu2502=)	NC_000007.13:g.91708951C>T	(Likely) benign	1 lab	d6a10a7f06
4:517563 PIGG G>A	4	517563	517563	G	A	PIGG	c.1930G>A	NM_001127178.3	NP_001120650.1:p.(Glu644Lys)	NC_000004.11:g.517563G>A	(Likely) benign	1 lab	339dd614ec
7:128610233 TNPO3 A>T	7	128610233	128610233	A	T	TNPO3	c.2567T>A	NM_012470.3	NP_036602.1:p.(Val856Glu)	NC_000007.13:g.128610233A>T	(Likely) benign	1 lab	d6a290b61a
2:45169429 SIX3 AGGC>A	2	45169429	45169450	AGGC	A	SIX3	c.205_207del	NM_005413.3	NP_005404.1:p.(Gly69del)	NC_000002.11:g.45169448_45169450del	(Likely) benign	1 lab	d6a3e039bc
19:6707876 C3 C>T	19	6707876	6707876	C	T	C3	c.1910G>A	NM_000064.4	NP_000055.2:p.(Gly637Asp)	NC_000019.9:g.6707876C>T	VUS	1 lab	d6a631133e
14:55034684 MISSING G>A	14	55034684	55034684	G	A	MISSING				NC_000014.8:g.55034684G>A	VUS	1 lab	d6a72a348e
17:41219598 BRCA1 G>A	17	41219598	41219598	G	A	BRCA1	c.5074+27C>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41219598G>A	(Likely) benign	1 lab	d6ab80c542
5:112157626 APC CTG>C	5	112157626	112157635	CTG	C	APC	c.1354_1355del	NM_000038.6	NP_000029.2:p.(Val452SerfsTer7)	NC_000005.9:g.112157634_112157635del	(Likely) pathogenic	1 lab	d6ade657e6
3:37041286 MLH1 G>A	3	37041286	37041286	G	A	MLH1	c.208-1160G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37041286G>A	(Likely) benign	1 lab	d6b3e96961
3:131220428 MRPL3 C>T	3	131220428	131220428	C	T	MRPL3	c.224G>A	NM_007208.3	NP_009139.1:p.(Ser75Asn)	NC_000003.11:g.131220428C>T	(Likely) benign	1 lab	d6ba1c720a
14:23885062 MYH7 C>T	14	23885062	23885062	C	T	MYH7	c.4954-21G>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23885062C>T	(Likely) benign	1 lab	d6bd1fb81a
10:69970034 MYPN A>AT	10	69970034	69970038	A	AT	MYPN	c.3794-5dup	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69970038dup	(Likely) benign	1 lab	d6becd00ed
19:11134269 SMARCA4 C>T	19	11134269	11134269	C	T	SMARCA4	c.2935C>T	NM_003072.5	NP_003063.2:p.(Arg979Ter)	NC_000019.9:g.11134269C>T	(Likely) pathogenic	1 lab	d6c0187bdf
2:145156278 ZEB2 C>A	2	145156278	145156278	C	A	ZEB2				NC_000002.11:g.145156278C>A	(Likely) pathogenic	1 lab	d6c106763e
2:179391851 TTN G>T	2	179391851	179391851	G	T	TTN	c.107864C>A	NM_001267550.2	NP_001254479.2:p.(Thr35955Asn)	NC_000002.11:g.179391851G>T	VUS	1 lab	d6c1400532
8:103237263 RRM2B A>AATAGATAT	8	103237263	103237273	A	AATAGATAT	RRM2B	c.322-25_322-18dup	NM_015713.4	NP_056528.2:p.?	NC_000008.10:g.103237266_103237273dup	(Likely) benign	1 lab	1548ffd634
11:534286 HRAS C>G	11	534286	534286	C	G	HRAS	c.37G>C	NM_005343.2	NP_005334.1:p.(Gly13Arg)	NC_000011.9:g.534286C>G	(Likely) pathogenic	1 lab	d6c3cd0259
17:33427937 RAD51D C>T	17	33427937	33427937	C	T	RAD51D	c.*35G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33427937C>T	(Likely) benign	1 lab	d6c5c36d8c
2:165947498 SCN3A G>C	2	165947498	165947498	G	C	SCN3A	c.5165C>G	NM_006922.4	NP_008853.3:p.(Ala1722Gly)	NC_000002.11:g.165947498G>C	VUS	1 lab	d702cb1ab0
2:179596528 TTN C>T	2	179596528	179596528	C	T	TTN	c.17074G>A	NM_001267550.2	NP_001254479.2:p.(Val5692Ile)	NC_000002.11:g.179596528C>T	(Likely) benign	1 lab	d6cdd7d67f
5:110096971 SLC25A46 G>A	5	110096971	110096971	G	A	SLC25A46	c.746G>A	NM_138773.4	NP_620128.1:p.(Gly249Asp)	NC_000005.9:g.110096971G>A	(Likely) pathogenic	1 lab	d6d7e8a8c2
20:62076064 KCNQ2 C>T	20	62076064	62076064	C	T	KCNQ2	c.638G>A	NM_172107.4	NP_742105.1:p.(Arg213Gln)	NC_000020.10:g.62076064C>T	(Likely) pathogenic	1 lab	d6d854dadd
9:139402764 NOTCH1 C>T	9	139402764	139402764	C	T	NOTCH1	c.3245G>A	NM_017617.3	NP_060087.3:p.(Arg1082His)	NC_000009.11:g.139402764C>T	(Likely) benign	1 lab	d6d8fcea39
1:179887049 TOR1AIP1 C>T	1	179887049	179887049	C	T	TOR1AIP1	c.1430C>T	NM_001267578.1	NP_001254507.1:p.(Ala477Val)	NC_000001.10:g.179887049C>T	VUS	1 lab	d6d9d66749
2:98341694 ZAP70 C>G	2	98341694	98341694	C	G	ZAP70	c.542C>G	NM_001079.3	NP_001070.2:p.(Ala181Gly)	NC_000002.11:g.98341694C>G	(Likely) benign	1 lab	1549baeb54
12:81072380 MISSING G>A	12	81072380	81072380	G	A	MISSING				NC_000012.11:g.81072380G>A	(Likely) pathogenic	1 lab	d6dc57fbbf
17:33430576 RAD51D G>T	17	33430576	33430576	G	T	RAD51D	c.577-13C>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430576G>T	(Likely) benign	1 lab	d6dfb71d79
4:41259740 UCHL1 C>T	4	41259740	41259740	C	T	UCHL1	c.160C>T	NM_004181.5	NP_004172.2:p.(Pro54Ser)	NC_000004.11:g.41259740C>T	VUS	1 lab	d6e655e227
6:72961032 RIMS1 C>T	6	72961032	72961032	C	T	RIMS1	c.2659C>T	NM_014989.5	NP_055804.2:p.(Arg887Ter)	NC_000006.11:g.72961032C>T	VUS	1 lab	d6e6f2482a
6:87969292 ZNF292 TAAAAA>T	6	87969292	87969297	TAAAAA	T	ZNF292	c.5946_5950del	NM_015021.3	NP_055836.1:p.(Leu1982PhefsTer2)	NC_000006.11:g.87969293_87969297del	(Likely) pathogenic	1 lab	d6e9db1086
2:48026721 MSH6 G>C	2	48026721	48026721	G	C	MSH6	c.1599G>C	NM_000179.2	NP_000170.1:p.(Glu533Asp)	NC_000002.11:g.48026721G>C	(Likely) benign	1 lab	d6eebb7af3
8:42287588 SLC20A2 G>A	8	42287588	42287588	G	A	SLC20A2	c.1703C>T	NM_001257180.1	NP_001244109.1:p.(Pro568Leu)	NC_000008.10:g.42287588G>A	VUS	1 lab	d6f1e76c4b
7:151842339 KMT2C G>A	7	151842339	151842339	G	A	KMT2C	c.14073C>T	NM_170606.3	NP_733751.2:p.(Tyr4691=)	NC_000007.13:g.151842339G>A	(Likely) benign	1 lab	129fb00434
4:187201430 F11 G>T	4	187201430	187201430	G	T	F11	c.919G>T	NM_000128.3	NP_000119.1:p.(Asp307Tyr)	NC_000004.11:g.187201430G>T	VUS	1 lab	d6f5b102c0
12:2783791 CACNA1C T>G	12	2783791	2783791	T	G	CACNA1C	c.4811T>G	NM_000719.6	NP_000710.5:p.(Val1604Gly)	NC_000012.11:g.2783791T>G	VUS	1 lab	d6f76315d6
X:128703383 OCRL A>G	X	128703383	128703383	A	G	OCRL	c.1602+7A>G	NM_000276.3	NP_000267.2:p.?	NC_000023.10:g.128703383A>G	(Likely) benign	1 lab	d6f7855ac0
X:107936154 COL4A5 C>T	X	107936154	107936154	C	T	COL4A5	c.4705C>T	NM_033380.2	NP_203699.1:p.(Arg1569Ter)	NC_000023.10:g.107936154C>T	(Likely) pathogenic	1 lab	d6fa1ace77
5:112151191 APC G>A	5	112151191	112151191	G	A	APC	c.835-1G>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112151191G>A	(Likely) pathogenic	1 lab	d6fa329f86
10:89623383 PTEN T>C	10	89623383	89623383	T	C	PTEN	c.-844T>C	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623383T>C	VUS	1 lab	d89231f536
1:160097516 ATP1A2 C>T	1	160097516	160097516	C	T	ATP1A2	c.923C>T	NM_000702.4	NP_000693.1:p.(Ser308Phe)	NC_000001.10:g.160097516C>T	(Likely) pathogenic	1 lab	d6fbee27e1
6:7586019 DSP C>T	6	7586019	7586019	C	T	DSP	c.8524C>T	NM_004415.2	NP_004406.2:p.(Arg2842Cys)	NC_000006.11:g.7586019C>T	VUS	1 lab	154d496205
1:169499020 F5 G>C	1	169499020	169499020	G	C	F5	c.5245C>G	NM_000130.4	NP_000121.2:p.(Leu1749Val)	NC_000001.10:g.169499020G>C	(Likely) benign	1 lab	d6fef591d9
X:153591031 FLNA T>G	X	153591031	153591031	T	G	FLNA	c.2402A>C	NM_001110556.2	NP_001104026.1:p.(Gln801Pro)	NC_000023.10:g.153591031T>G	VUS	1 lab	d70004681a
2:179417694 TTN C>G	2	179417694	179417694	C	G	TTN	c.89933G>C	NM_001267550.2	NP_001254479.2:p.(Arg29978Thr)	NC_000002.11:g.179417694C>G	VUS	1 lab	d70647e8fa
10:126097171 OAT G>A	10	126097171	126097171	G	A	OAT	c.460C>T	NM_000274.3	NP_000265.1:p.(Arg154Cys)	NC_000010.10:g.126097171G>A	VUS	1 lab	d706f1a136
2:179407661 TTN T>C	2	179407661	179407661	T	C	TTN	c.96920A>G	NM_001267550.2	NP_001254479.2:p.(Asp32307Gly)	NC_000002.11:g.179407661T>C	VUS	1 lab	12a6e2a28a
2:167128869 SCN9A A>G	2	167128869	167128869	A	G	SCN9A	c.3318+40T>C	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167128869A>G	(Likely) benign	1 lab	d7120108a2
3:37038723 MLH1 G>A	3	37038723	37038723	G	A	MLH1	c.207+523G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37038723G>A	(Likely) benign	1 lab	d712931efe
2:166153563 SCN2A C>T	2	166153563	166153563	C	T	SCN2A	c.304C>T	NM_021007.2	NP_066287.2:p.(Arg102Ter)	NC_000002.11:g.166153563C>T	(Likely) pathogenic	1 lab	d7157e3ee9
1:94577082 ABCA4 C>T	1	94577082	94577082	C	T	ABCA4				NC_000001.10:g.94577082C>T	(Likely) pathogenic	1 lab	d71782801c
10:121432208 BAG3 A>G	10	121432208	121432208	A	G	BAG3	c.909+40A>G	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121432208A>G	(Likely) benign	1 lab	d71b25fb5e
11:118374702 KMT2A C>T	11	118374702	118374702	C	T	KMT2A	c.8095C>T	NM_001197104.1	NP_001184033.1:p.(Arg2699Ter)	NC_000011.9:g.118374702C>T	(Likely) pathogenic	1 lab	d71b2db8b1
1:228404368 OBSCN G>A	1	228404368	228404368	G	A	OBSCN	c.2342G>A	NM_001271223.2	NP_001258152.2:p.(Arg781His)	NC_000001.10:g.228404368G>A	(Likely) benign	1 lab	d71c740127
X:152860144 CCNQ A>C	X	152860144	152860144	A	C	CCNQ	c.297-7T>G	NM_152274.3	NP_689487.2:p.?	NC_000023.10:g.152860144A>C	(Likely) benign	1 lab	d720ebc3b0
14:75470366 EIF2B2 A>T	14	75470366	75470366	A	T	EIF2B2	c.397A>T	NM_014239.3	NP_055054.1:p.(Ile133Phe)	NC_000014.8:g.75470366A>T	VUS	1 lab	d722998443
6:32006955 TNXB C>G	6	32006955	32006955	C	G	TNXB				NC_000006.11:g.32006955C>G	(Likely) pathogenic	1 lab	d72491985a
7:150647271 KCNH2 C>T	7	150647271	150647271	C	T	KCNH2	c.2383G>A	NM_000238.3	NP_000229.1:p.(Val795Ile)	NC_000007.13:g.150647271C>T	VUS	1 lab	d726c4d2e0
12:56079358 ITGA7 A>T	12	56079358	56079358	A	T	ITGA7	c.3184-286T>A	NM_002206.3	NP_002197.2:p.?	NC_000012.11:g.56079358A>T	(Likely) benign	1 lab	154f26793a
20:62562397 DNAJC5 C>T	20	62562397	62562397	C	T	DNAJC5	c.493+22C>T	NM_025219.3	NP_079495.1:p.?	NC_000020.10:g.62562397C>T	(Likely) benign	1 lab	154f37a8c5
15:72104518 NR2E3 T>A	15	72104518	72104518	T	A	NR2E3	c.571+2T>A	NM_014249.2	NP_055064.1:p.?	NC_000015.9:g.72104518T>A	(Likely) pathogenic	1 lab	d72ca74ddd
3:57743439 SLMAP C>T	3	57743439	57743439	C	T	SLMAP	c.61C>T	NM_001377540.1	NP_001364469.1:p.(His21Tyr)	NC_000003.11:g.57743439C>T	VUS	1 lab	d7303a384a
3:38627437 SCN5A C>T	3	38627437	38627437	C	T	SCN5A	c.2532G>A	NM_198056.2	NP_932173.1:p.(Leu844=)	NC_000003.11:g.38627437C>T	(Likely) benign	1 lab	d7316d1cfa
1:112524391 KCND3 C>T	1	112524391	112524391	C	T	KCND3	c.958G>A	NM_001378969.1	NP_001365898.1:p.(Glu320Lys)	NC_000001.10:g.112524391C>T	(Likely) pathogenic	1 lab	d735cb6251
1:46656475 POMGNT1 T>G	1	46656475	46656475	T	G	POMGNT1	c.1540-19A>C	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46656475T>G	(Likely) benign	1 lab	d7364ee131
16:1573551 IFT140 T>C	16	1573551	1573551	T	C	IFT140	c.3421A>G	NM_014714.3	NP_055529.2:p.(Arg1141Gly)	NC_000016.9:g.1573551T>C	VUS	1 lab	d738c74037
17:59886110 BRIP1 G>T	17	59886110	59886110	G	T	BRIP1	c.636C>A	NM_032043.3	NP_114432.2:p.(Gly212=)	NC_000017.10:g.59886110G>T	(Likely) benign	1 lab	d73929fecb
6:157222555 ARID1B C>T	6	157222555	157222555	C	T	ARID1B	c.1822C>T	NM_020732.3	NP_065783.3:p.(Gln608Ter)	NC_000006.11:g.157222555C>T	(Likely) pathogenic	1 lab	d73ac82770
3:38663946 SCN5A T>C	3	38663946	38663946	T	C	SCN5A	c.427A>G	NM_000335.5	NP_000326.2:p.(Thr143Ala)	NC_000003.11:g.38663946T>C	VUS	1 lab	d741c05c31
8:65517270 CYP7B1 T>C	8	65517270	65517270	T	C	CYP7B1	c.1202A>G	NM_004820.5	NP_004811.1:p.(His401Arg)	NC_000008.10:g.65517270T>C	VUS	1 lab	d742f82e30
19:38946085 RYR1 C>G	19	38946085	38946085	C	G	RYR1	c.1577-6C>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38946085C>G	(Likely) benign	1 lab	d743a8b704
11:35336626 SLC1A2 A>C	11	35336626	35336626	A	C	SLC1A2	c.254T>G	NM_004171.3	NP_004162.2:p.(Leu85Arg)	NC_000011.9:g.35336626A>C	VUS	1 lab	d743e2d772
17:42940141 EFTUD2 AG>A	17	42940141	42940144	AG	A	EFTUD2	c.1546del	NM_004247.3	NP_004238.3:p.(Leu516TrpfsTer26)	NC_000017.10:g.42940144del	(Likely) pathogenic	1 lab	d744662ff9
X:64141761 ZC4H2 A>G	X	64141761	64141761	A	G	ZC4H2	c.161T>C	NM_018684.4	NP_061154.1:p.(Leu54Pro)	NC_000023.10:g.64141761A>G	(Likely) pathogenic	1 lab	d7451a0f9f
1:57399155 C8B G>A	1	57399155	57399155	G	A	C8B	c.1249C>T	NM_001278543.2	NP_001265472.2:p.(Pro417Ser)	NC_000001.10:g.57399155G>A	VUS	1 lab	12abffa582
9:2718166 KCNV2 G>T	9	2718166	2718166	G	T	KCNV2	c.427G>T	NM_133497.3	NP_598004.1:p.(Glu143Ter)	NC_000009.11:g.2718166G>T	(Likely) pathogenic	1 lab	d745e5e548
17:37821770 TCAP C>T	17	37821770	37821770	C	T	TCAP	c.110+48C>T	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37821770C>T	(Likely) benign	1 lab	d74932cc56
15:43908620 STRC G>A	15	43908620	43908620	G	A	STRC	c.1144C>T	NM_153700.2	NP_714544.1:p.(Gln382Ter)	NC_000015.9:g.43908620G>A	(Likely) pathogenic	1 lab	d74d5fae27
5:112136958 APC T>G	5	112136958	112136958	T	G	APC	c.730-18T>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112136958T>G	(Likely) benign	1 lab	d74e61fe95
2:61275670 PEX13 T>C	2	61275670	61275670	T	C	PEX13	c.977T>C	NM_002618.4	NP_002609.1:p.(Ile326Thr)	NC_000002.11:g.61275670T>C	(Likely) pathogenic	1 lab	d74e64678b
7:128477765 FLNC G>A	7	128477765	128477765	G	A	FLNC	c.925G>A	NM_001458.4	NP_001449.3:p.(Glu309Lys)	NC_000007.13:g.128477765G>A	VUS	1 lab	d7559b73c8
1:94508427 ABCA4 G>A	1	94508427	94508427	G	A	ABCA4	c.3218C>T	NM_000350.3	NP_000341.2:p.(Ala1073Val)	NC_000001.10:g.94508427G>A	VUS	1 lab	12ad206e9d
16:56899508 SLC12A3 T>G	16	56899508	56899508	T	G	SLC12A3	c.282+79T>G	NM_000339.3	NP_000330.3:p.?	NC_000016.9:g.56899508T>G	(Likely) benign	1 lab	1561976be4
5:112175207 APC G>T	5	112175207	112175207	G	T	APC	c.3916G>T	NM_000038.6	NP_000029.2:p.(Glu1306Ter)	NC_000005.9:g.112175207G>T	(Likely) pathogenic	1 lab	d7594d6498
2:47656993 MSH2 C>T	2	47656993	47656993	C	T	MSH2	c.1189C>T	NM_000251.2	NP_000242.1:p.(Gln397Ter)	NC_000002.11:g.47656993C>T	(Likely) pathogenic	1 lab	d75bd6ea4a
1:16051934 PLEKHM2 A>G	1	16051934	16051934	A	G	PLEKHM2	c.835A>G	NM_015164.3	NP_055979.2:p.(Thr279Ala)	NC_000001.10:g.16051934A>G	(Likely) benign	1 lab	d75d92330a
X:21772363 SMPX C>T	X	21772363	21772363	C	T	SMPX	c.45+1G>A	NM_014332.2	NP_055147.1:p.?	NC_000023.10:g.21772363C>T	(Likely) pathogenic	1 lab	d75f93e044
2:179647127 TTN C>G	2	179647127	179647127	C	G	TTN	c.3192G>C	NM_001267550.2	NP_001254479.2:p.(Met1064Ile)	NC_000002.11:g.179647127C>G	VUS	1 lab	12af5a814b
18:32462146 DTNA T>C	18	32462146	32462146	T	C	DTNA	c.2195T>C	NM_001390.4	NP_001381.2:p.(Leu732Pro)	NC_000018.9:g.32462146T>C	VUS	1 lab	d7619dde5c
3:12645688 RAF1 G>A	3	12645688	12645688	G	A	RAF1	c.781C>T	NM_002880.3	NP_002871.1:p.(Pro261Ser)	NC_000003.11:g.12645688G>A	(Likely) pathogenic	1 lab	d761e0b986
10:123247712 FGFR2 C>CA	10	123247712	123247713	C	CA	FGFR2	c.1864-86dup	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123247713dup	(Likely) benign	1 lab	d7628f4fc2
22:32180846 DEPDC5 A>G	22	32180846	32180846	A	G	DEPDC5	c.609A>G	NM_001242896.3	NP_001229825.1:p.(Leu203=)	NC_000022.10:g.32180846A>G	(Likely) benign	1 lab	154fde4218
6:72955528 RIMS1 C>T	6	72955528	72955528	C	T	RIMS1	c.2092C>T	NM_014989.7	NP_055804.2:p.(Arg698Trp)	NC_000006.11:g.72955528C>T	VUS	1 lab	d765b738db
2:48050349 FBXO11 C>G	2	48050349	48050349	C	G	FBXO11	c.1549G>C	NM_001190274.2	NP_001177203.1:p.(Glu517Gln)	NC_000002.11:g.48050349C>G	(Likely) benign	1 lab	d7679299b3
20:18523678 SEC23B G>A	20	18523678	18523678	G	A	SEC23B	c.1527G>A	NM_032985.5	NP_116780.1:p.(Gln509=)	NC_000020.10:g.18523678G>A	VUS	1 lab	d7686a6d50
4:140272393 NAA15 A>C	4	140272393	140272393	A	C	NAA15	c.860A>C	NM_057175.5	NP_476516.1:p.(Tyr287Ser)	NC_000004.11:g.140272393A>C	(Likely) benign	1 lab	d76b6418da
16:3713529 TRAP1 G>C	16	3713529	3713529	G	C	TRAP1	c.1604C>G	NM_016292.3	NP_057376.2:p.(Thr535Ser)	NC_000016.9:g.3713529G>C	(Likely) benign	1 lab	339f18e735
11:3041482 CARS1 C>T	11	3041482	3041482	C	T	CARS1	c.1234G>A	NM_001014437.3	NP_001014437.1:p.(Gly412Arg)	NC_000011.9:g.3041482C>T	VUS	1 lab	d770def97c
7:80292305 CD36 G>C	7	80292305	80292305	G	C	CD36	c.430-1G>C	NM_001001548.2	NP_001001548.1:p.?	NC_000007.13:g.80292305G>C	VUS	1 lab	d771ee8b1d
8:11617339 GATA4 G>A	8	11617339	11617339	G	A	GATA4	c.*1355G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11617339G>A	(Likely) benign	1 lab	d7730304a6
8:77895663 PEX2 G>C	8	77895663	77895663	G	C	PEX2	c.752C>G	NM_000318.3	NP_000309.2:p.(Pro251Arg)	NC_000008.10:g.77895663G>C	(Likely) pathogenic	1 lab	d77590b5b1
9:98238341 PTCH1 G>A	9	98238341	98238341	G	A	PTCH1	c.1703C>T	NM_000264.3	NP_000255.2:p.(Pro568Leu)	NC_000009.11:g.98238341G>A	VUS	1 lab	d7762497c0
5:112174549 APC CCTCA>C	5	112174549	112174553	CCTCA	C	APC	c.3259_3262del	NM_000038.6	NP_000029.2:p.(Leu1087SerfsTer38)	NC_000005.9:g.112174550_112174553del	(Likely) pathogenic	1 lab	d7784ee9e1
14:59010649 KIAA0586 T>C	14	59010649	59010649	T	C	KIAA0586	c.4703T>C	NM_001244189.1	NP_001231118.1:p.(Leu1568Pro)	NC_000014.8:g.59010649T>C	(Likely) benign	1 lab	d77eb0eb9b
17:29670027 NF1 A>C	17	29670027	29670027	A	C	NF1	c.7063A>C	NM_001042492.3	NP_001035957.1:p.(Ser2355Arg)	NC_000017.10:g.29670027A>C	VUS	1 lab	d77fee8adc
14:24550554 NRL C>T	14	24550554	24550554	C	T	NRL	c.605G>A	NM_006177.4	NP_006168.1:p.(Arg202Gln)	NC_000014.8:g.24550554C>T	VUS	1 lab	d782b04588
4:68619776 GNRHR A>T	4	68619776	68619776	A	T	GNRHR	c.278T>A	NM_000406.3	NP_000397.1:p.(Ile93Asn)	NC_000004.11:g.68619776A>T	(Likely) pathogenic	1 lab	d783c5e022
10:88659827 BMPR1A T>C	10	88659827	88659827	T	C	BMPR1A	c.474T>C	NM_004329.2	NP_004320.2:p.(Ile158=)	NC_000010.10:g.88659827T>C	(Likely) benign	1 lab	d786a1b5a2
21:47551924 COL6A2 G>A	21	47551924	47551924	G	A	COL6A2	c.2518G>A	NM_001849.3	NP_001840.3:p.(Gly840Ser)	NC_000021.8:g.47551924G>A	(Likely) benign	1 lab	d788aafc96
16:8895650 PMM2 A>G	16	8895650	8895650	A	G	PMM2				NC_000016.9:g.8895650A>G	VUS	1 lab	d789e0418a
16:23646516 PALB2 A>T	16	23646516	23646516	A	T	PALB2	c.1351T>A	NM_024675.3	NP_078951.2:p.(Leu451Ile)	NC_000016.9:g.23646516A>T	(Likely) benign	1 lab	d78d10c278
16:89623341 SPG7 T>C	16	89623341	89623341	T	C	SPG7	c.2228T>C	NM_003119.2	NP_003110.1:p.(Ile743Thr)	NC_000016.9:g.89623341T>C	VUS	1 lab	d78d5b5413
18:29126389 DSG2 G>A	18	29126389	29126389	G	A	DSG2	c.3040G>A	NM_001943.4	NP_001934.2:p.(Val1014Ile)	NC_000018.9:g.29126389G>A	VUS	1 lab	d78f0d5394
2:179476801 TTN A>C	2	179476801	179476801	A	C	TTN	c.50337T>G	NM_001267550.2	NP_001254479.2:p.(Gly16779=)	NC_000002.11:g.179476801A>C	(Likely) benign	1 lab	d790fd8011
17:18052802 MYO15A TCAGA>T	17	18052802	18052809	TCAGA	T	MYO15A				NC_000017.10:g.18052806_18052809del	(Likely) pathogenic	1 lab	d792cf53c1
6:157528525 ARID1B G>T	6	157528525	157528525	G	T	ARID1B	c.6250G>T	NM_020732.3	NP_065783.3:p.(Glu2084Ter)	NC_000006.11:g.157528525G>T	(Likely) pathogenic	1 lab	d79641cf08
10:95791316 PLCE1 G>A	10	95791316	95791316	G	A	PLCE1	c.513G>A	NM_016341.3	NP_057425.3:p.(Val171=)	NC_000010.10:g.95791316G>A	(Likely) benign	1 lab	1553e62db2
1:215848261 USH2A T>C	1	215848261	215848261	T	C	USH2A	c.12992A>G	NM_206933.2	NP_996816.2:p.(Tyr4331Cys)	NC_000001.10:g.215848261T>C	VUS	1 lab	d79c4548b2
2:86317012 POLR1A C>G	2	86317012	86317012	C	G	POLR1A	c.473G>C	NM_015425.3	NP_056240.2:p.(Arg158Pro)	NC_000002.11:g.86317012C>G	(Likely) benign	1 lab	d79c9f19c8
6:132129340 ENPP1 G>A	6	132129340	132129340	G	A	ENPP1	c.165G>A	NM_006208.2	NP_006199.2:p.(Val55=)	NC_000006.11:g.132129340G>A	(Likely) benign	1 lab	d79e9a9b6f
X:119681071 CUL4B G>T	X	119681071	119681071	G	T	CUL4B	c.750C>A	NM_003588.3	NP_003579.3:p.(Tyr250Ter)	NC_000023.10:g.119681071G>T	(Likely) pathogenic	1 lab	d7a0a06c8d
X:48386681 EBP G>A	X	48386681	48386681	G	A	EBP	c.529G>A	NM_006579.3	NP_006570.1:p.(Gly177Arg)	NC_000023.10:g.48386681G>A	VUS	1 lab	d7a19eeabb
9:131849013 DOLPP1 C>T	9	131849013	131849013	C	T	DOLPP1	c.616C>T	NM_020438.4	NP_065171.2:p.(Arg206Ter)	NC_000009.11:g.131849013C>T	(Likely) pathogenic	1 lab	d7a209af28
10:94388655 KIF11 A>C	10	94388655	94388655	A	C	KIF11	c.1305+3A>C	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94388655A>C	(Likely) pathogenic	1 lab	d7a5333798
1:228559269 OBSCN G>C	1	228559269	228559269	G	C	OBSCN	c.23661G>C	NM_001271223.2	NP_001258152.2:p.(Arg7887Ser)	NC_000001.10:g.228559269G>C	(Likely) benign	1 lab	d7a9299be4
X:41198279 DDX3X AT>A	X	41198279	41198286	AT	A	DDX3X	c.104-3del	NM_001356.4	NP_001347.3:p.?	NC_000023.10:g.41198286del	(Likely) benign	1 lab	d7ab4a5a98
9:3225104 RFX3 C>T	9	3225104	3225104	C	T	RFX3	c.2188G>A	NM_134428.3	NP_602304.1:p.(Val730Ile)	NC_000009.11:g.3225104C>T	VUS	1 lab	12b9e3d945
10:68139022 CTNNA3 G>A	10	68139022	68139022	G	A	CTNNA3	c.1620C>T	NM_013266.3	NP_037398.2:p.(Ile540=)	NC_000010.10:g.68139022G>A	(Likely) benign	1 lab	d7adb632bf
2:54858411 SPTBN1 C>T	2	54858411	54858411	C	T	SPTBN1	c.3227C>T	NM_003128.2	NP_003119.2:p.(Ser1076Phe)	NC_000002.11:g.54858411C>T	VUS	1 lab	d7adc6a3de
6:149721811 TAB2 A>C	6	149721811	149721811	A	C	TAB2	c.1939+1491A>C	NM_015093.5	NP_055908.1:p.?	NC_000006.11:g.149721811A>C	(Likely) benign	1 lab	d7aff07eaa
X:71802250 PHKA1 G>A	X	71802250	71802250	G	A	PHKA1	c.3496C>T	NM_002637.3	NP_002628.2:p.(Gln1166Ter)	NC_000023.10:g.71802250G>A	VUS	1 lab	d7b318bb32
5:180047960 FLT4 G>T	5	180047960	180047960	G	T	FLT4	c.2215C>A	NM_182925.5	NP_891555.2:p.(Arg739Ser)	NC_000005.9:g.180047960G>T	VUS	1 lab	12bd0ed730
1:153792154 GATAD2B A>AT	1	153792154	153792156	A	AT	GATAD2B	c.392dup	NM_020699.4	NP_065750.1:p.(Asn131LysfsTer2)	NC_000001.10:g.153792156dup	(Likely) pathogenic	1 lab	d7b573c258
1:41303465 KCNQ4 A>C	1	41303465	41303465	A	C	KCNQ4	c.1874A>C	NM_004700.3	NP_004691.2:p.(Gln625Pro)	NC_000001.10:g.41303465A>C	VUS	1 lab	d7b79f8505
1:229600362 NUP133 T>C	1	229600362	229600362	T	C	NUP133	c.2551+9A>G	NM_018230.3	NP_060700.2:p.?	NC_000001.10:g.229600362T>C	(Likely) benign	1 lab	15595af57d
2:20131135 WDR35 AG>A	2	20131135	20131137	AG	A	WDR35	c.2891del	NM_001006657.1	NP_001006658.1:p.(Pro964LeufsTer15)	NC_000002.11:g.20131137del	(Likely) pathogenic	1 lab	d7bb363c35
13:32937452 BRCA2 A>G	13	32937452	32937452	A	G	BRCA2	c.8113A>G	NM_000059.4	NP_000050.3:p.(Ser2705Gly)	NC_000013.10:g.32937452A>G	VUS	1 lab	d7bcddff30
14:36986676 NKX2-1 C>T	14	36986676	36986676	C	T	NKX2-1	c.1013G>A	NM_001079668.2	NP_001073136.1:p.(Ser338Asn)	NC_000014.8:g.36986676C>T	VUS	1 lab	d7c1833d89
7:47927644 PKD1L1 A>G	7	47927644	47927644	A	G	PKD1L1	c.2780T>C	NM_138295.3	NP_612152.1:p.(Leu927Pro)	NC_000007.13:g.47927644A>G	VUS	1 lab	d7c2299665
2:179463987 TTN T>C	2	179463987	179463987	T	C	TTN	c.56533A>G	NM_001267550.1	NP_001254479.1:p.(Thr18845Ala)	NC_000002.11:g.179463987T>C	VUS	1 lab	155a088e6d
8:72229769 EYA1 C>A	8	72229769	72229769	C	A	EYA1	c.556+18G>T	NM_172058.2	NP_742055.1:p.?	NC_000008.10:g.72229769C>A	(Likely) benign	1 lab	d7c46cba29
2:179392237 TTN C>T	2	179392237	179392237	C	T	TTN	c.107616G>A	NM_001267550.2	NP_001254479.2:p.(Met35872Ile)	NC_000002.11:g.179392237C>T	(Likely) benign	1 lab	d7c72c738a
15:73660482 HCN4 T>G	15	73660482	73660482	T	G	HCN4	c.130A>C	NM_005477.2	NP_005468.1:p.(Ser44Arg)	NC_000015.9:g.73660482T>G	VUS	1 lab	d7c76b786c
1:216420185 USH2A T>A	1	216420185	216420185	T	A	USH2A				NC_000001.10:g.216420185T>A	(Likely) pathogenic	1 lab	d7d3535bda
8:10480462 RP1L1 G>A	8	10480462	10480462	G	A	RP1L1	c.250C>T	NM_178857.5	NP_849188.4:p.(Pro84Ser)	NC_000008.10:g.10480462G>A	VUS	1 lab	d7d397ca21
12:108956418 ISCU T>G	12	108956418	108956418	T	G	ISCU	c.20T>G	NM_213595.4	NP_998760.1:p.(Phe7Cys)	NC_000012.11:g.108956418T>G	(Likely) benign	1 lab	12c1bd8f46
16:23641177 PALB2 TGA>T	16	23641177	23641180	TGA	T	PALB2	c.2296_2297del	NM_024675.3	NP_078951.2:p.(Val767LeufsTer5)	NC_000016.9:g.23641179_23641180del	(Likely) pathogenic	1 lab	d7d987f9ce
7:81594902 CACNA2D1 G>A	7	81594902	81594902	G	A	CACNA2D1	c.2574+8C>T	NM_000722.3	NP_000713.2:p.?	NC_000007.13:g.81594902G>A	(Likely) benign	1 lab	d7dd4d8a43
3:37042445 MLH1 G>A	3	37042445	37042445	G	A	MLH1	c.208-1G>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37042445G>A	(Likely) pathogenic	1 lab	d7dd573a8c
15:78294034 TBC1D2B T>C	15	78294034	78294034	T	C	TBC1D2B	c.2623A>G	NM_144572.2	NP_653173.1:p.(Ile875Val)	NC_000015.9:g.78294034T>C	VUS	1 lab	12c299a9eb
17:37822281 PNMT C>T	17	37822281	37822281	C	T	PNMT				NC_000017.10:g.37822281C>T	(Likely) benign	1 lab	d8ee81f1ac
13:110814651 COL4A1 C>T	13	110814651	110814651	C	T	COL4A1	c.4388G>A	NM_001845.5	NP_001836.3:p.(Gly1463Glu)	NC_000013.10:g.110814651C>T	VUS	1 lab	d7e0943f66
19:39075677 RYR1 G>T	19	39075677	39075677	G	T	RYR1	c.14741G>T	NM_000540.2	NP_000531.2:p.(Arg4914Met)	NC_000019.9:g.39075677G>T	(Likely) pathogenic	1 lab	d7e17d73f3
14:23856786 MYH6 C>G	14	23856786	23856786	C	G	MYH6	c.4602G>C	NM_002471.3	NP_002462.2:p.(Gln1534His)	NC_000014.8:g.23856786C>G	VUS	1 lab	d7e5c25005
6:64431621 EYS A>G	6	64431621	64431621	A	G	EYS	c.8306T>C	NM_001142800.2	NP_001136272.1:p.(Ile2769Thr)	NC_000006.11:g.64431621A>G	VUS	1 lab	d7eaa603e9
11:9192336 DENND5A T>TAC	11	9192336	9192365	T	TAC	DENND5A	c.1619-14_1619-13dup	NM_001348750.2	NP_001335679.1:p.?	NC_000011.9:g.9192364_9192365dup	(Likely) benign	1 lab	155aafe41b
19:11552134 PRKCSH CTT>AATAAGG	19	11552134	11552136	CTT	AATAAGG	PRKCSH	c.430_432delinsAATAAGG	NM_002743.3	NP_002734.2:p.(Leu144AsnfsTer4)	NC_000019.9:g.11552134_11552136delinsAATAAGG	(Likely) pathogenic	1 lab	d7ec8102a1
15:42139863 JMJD7-PLA2G4B C>T	15	42139863	42139863	C	T	JMJD7-PLA2G4B	c.2657C>T	NM_001198588.1	NP_001185517.1:p.(Pro886Leu)	NC_000015.9:g.42139863C>T	(Likely) benign	1 lab	155e91873c
2:191862640 STAT1 G>C	2	191862640	191862640	G	C	STAT1	c.727C>G	NM_007315.3	NP_009330.1:p.(Gln243Glu)	NC_000002.11:g.191862640G>C	VUS	1 lab	d7f0a6c2e0
16:23392046 SCNN1B C>T	16	23392046	23392046	C	T	SCNN1B	c.1847C>T	NM_000336.3	NP_000327.2:p.(Pro616Leu)	NC_000016.9:g.23392046C>T	(Likely) pathogenic	1 lab	d7f34a1960
5:161318012 GABRA1 C>G	5	161318012	161318012	C	G	GABRA1	c.812C>G	NM_001127644.2	NP_001121116.1:p.(Ser271Cys)	NC_000005.9:g.161318012C>G	VUS	1 lab	d7f5570e0e
14:102514265 DYNC1H1 G>A	14	102514265	102514265	G	A	DYNC1H1	c.13118G>A	NM_001376.4	NP_001367.2:p.(Arg4373His)	NC_000014.8:g.102514265G>A	VUS	1 lab	d7f60db6d0
17:7918220 GUCY2D G>A	17	7918220	7918220	G	A	GUCY2D	c.2620G>A	NM_000180.3	NP_000171.1:p.(Glu874Lys)	NC_000017.10:g.7918220G>A	VUS	1 lab	d7f68ced5a
8:145737650 RECQL4 C>T	8	145737650	145737650	C	T	RECQL4	c.3113G>A	NM_004260.4	NP_004251.4:p.(Arg1038His)	NC_000008.10:g.145737650C>T	VUS	1 lab	12c51984a5
22:17669255 ADA2 G>C	22	17669255	17669255	G	C	ADA2	c.1055C>G	NM_001282225.2	NP_001269154.1:p.(Pro352Arg)	NC_000022.10:g.17669255G>C	VUS	1 lab	12cae4c76f
7:6042093 PMS2 A>G	7	6042093	6042093	A	G	PMS2	c.528T>C	NM_000535.5	NP_000526.1:p.(Asn176=)	NC_000007.13:g.6042093A>G	(Likely) benign	1 lab	d7f9b219ad
12:52168137 SCN8A C>T	12	52168137	52168137	C	T	SCN8A	c.3810C>T	NM_014191.4	NP_055006.1:p.(Leu1270=)	NC_000012.11:g.52168137C>T	(Likely) benign	1 lab	d7fc04a6b6
2:179422231 TTN C>T	2	179422231	179422231	C	T	TTN	c.87758G>A	NM_001267550.2	NP_001254479.2:p.(Ser29253Asn)	NC_000002.11:g.179422231C>T	VUS	1 lab	d7fdec3a6b
X:153224207 HCFC1 C>T	X	153224207	153224207	C	T	HCFC1	c.1616G>A	NM_005334.2	NP_005325.2:p.(Ser539Asn)	NC_000023.10:g.153224207C>T	VUS	1 lab	d802cc1955
14:88903901 SPATA7 T>C	14	88903901	88903901	T	C	SPATA7	c.1175T>C	NM_018418.5	NP_060888.2:p.(Leu392Pro)	NC_000014.8:g.88903901T>C	VUS	1 lab	d80eb74684
2:32353541 SPAST C>A	2	32353541	32353541	C	A	SPAST	c.1238C>A	NM_014946.3	NP_055761.2:p.(Ser413Ter)	NC_000002.11:g.32353541C>A	(Likely) pathogenic	1 lab	d81b8861cb
13:32910901 BRCA2 T>G	13	32910901	32910901	T	G	BRCA2	c.2409T>G	NM_000059.3	NP_000050.2:p.(Tyr803Ter)	NC_000013.10:g.32910901T>G	(Likely) pathogenic	1 lab	d81d73cdd5
1:207933070 CD46 G>A	1	207933070	207933070	G	A	CD46	c.475+1G>A	NM_002389.4	NP_002380.3:p.?	NC_000001.10:g.207933070G>A	(Likely) pathogenic	1 lab	d82122c685
20:3063683 AVP C>T	20	3063683	3063683	C	T	AVP	c.262G>A	NM_000490.5	NP_000481.2:p.(Gly88Ser)	NC_000020.10:g.3063683C>T	(Likely) pathogenic	1 lab	d8227a7247
6:123594494 TRDN C>T	6	123594494	123594494	C	T	TRDN	c.1612G>A	NM_006073.3	NP_006064.2:p.(Val538Met)	NC_000006.11:g.123594494C>T	(Likely) benign	1 lab	d822d03d0a
1:216420291 USH2A G>T	1	216420291	216420291	G	T	USH2A	c.2445C>A	NM_206933.2	NP_996816.2:p.(Cys815Ter)	NC_000001.10:g.216420291G>T	(Likely) pathogenic	1 lab	d8264971be
7:81593689 CACNA2D1 A>T	7	81593689	81593689	A	T	CACNA2D1				NC_000007.13:g.81593689A>T	(Likely) benign	1 lab	d829127d84
10:97446249 TCTN3 T>G	10	97446249	97446249	T	G	TCTN3	c.888+3A>C	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97446249T>G	(Likely) pathogenic	1 lab	d82da4ba21
6:34385676 RPS10 T>C	6	34385676	34385676	T	C	RPS10				NC_000006.11:g.34385676T>C	(Likely) benign	1 lab	d8345993de
2:47639631 MSH2 A>C	2	47639631	47639631	A	C	MSH2	c.724A>C	NM_000251.2	NP_000242.1:p.(Asn242His)	NC_000002.11:g.47639631A>C	VUS	1 lab	d836c597b7
6:119150370 MCM9 T>C	6	119150370	119150370	T	C	MCM9	c.1369A>G	NM_017696.3	NP_060166.2:p.(Thr457Ala)	NC_000006.11:g.119150370T>C	VUS	1 lab	d838b5e860
20:33586142 MYH7B C>T	20	33586142	33586142	C	T	MYH7B	c.3918C>T	NM_020884.4	NP_065935.3:p.(Ser1306=)	NC_000020.10:g.33586142C>T	VUS	1 lab	d83da44777
1:45799166 MUTYH G>A	1	45799166	45799166	G	A	MUTYH	c.267C>T	NM_001128425.1	NP_001121897.1:p.(Asp89=)	NC_000001.10:g.45799166G>A	(Likely) benign	1 lab	d84162b855
19:55668404 TNNI3 A>AC	19	55668404	55668405	A	AC	TNNI3	c.108+13_108+14insG	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668404_55668405insC	(Likely) benign	1 lab	d8438f4bbf
1:207940463 CD46 T>C	1	207940463	207940463	T	C	CD46	c.779T>C	NM_002389.4	NP_002380.3:p.(Phe260Ser)	NC_000001.10:g.207940463T>C	VUS	1 lab	d8489af297
20:39317215 MAFB G>T	20	39317215	39317215	G	T	MAFB	c.276C>A	NM_005461.4	NP_005452.2:p.(Tyr92Ter)	NC_000020.10:g.39317215G>T	VUS	1 lab	d848dfc9d5
20:33587051 MYH7B G>A	20	33587051	33587051	G	A	MYH7B	c.4509G>A	NM_020884.4	NP_065935.3:p.(Glu1503=)	NC_000020.10:g.33587051G>A	(Likely) benign	1 lab	d84c6e8b29
2:179517985 TTN G>A	2	179517985	179517985	G	A	TTN	c.38771C>T	NM_001267550.2	NP_001254479.2:p.(Pro12924Leu)	NC_000002.11:g.179517985G>A	VUS	1 lab	d8539c565b
1:3329040 PRDM16 A>C	1	3329040	3329040	A	C	PRDM16	c.2279A>C	NM_022114.3	NP_071397.3:p.(Asp760Ala)	NC_000001.10:g.3329040A>C	(Likely) benign	1 lab	d858294097
14:105169734 INF2 G>A	14	105169734	105169734	G	A	INF2	c.610G>A	NM_022489.3	NP_071934.3:p.(Val204Ile)	NC_000014.8:g.105169734G>A	(Likely) benign	1 lab	155e97a434
16:68849568 CDH1 AAG>A	16	68849568	68849574	AAG	A	CDH1	c.1476_1477del	NM_004360.5	NP_004351.1:p.(Arg492SerfsTer44)	NC_000016.9:g.68849573_68849574del	(Likely) pathogenic	1 lab	d858d1f36f
22:24167411 SMARCB1 G>A	22	24167411	24167411	G	A	SMARCB1	c.796-1G>A	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24167411G>A	(Likely) pathogenic	1 lab	d85a2cfe78
2:168104430 XIRP2 C>T	2	168104430	168104430	C	T	XIRP2	c.6528C>T	NM_152381.5	NP_689594.4:p.(Tyr2176=)	NC_000002.11:g.168104430C>T	(Likely) benign	1 lab	d85dc6645b
15:93515595 CHD2 G>A	15	93515595	93515595	G	A	CHD2				NC_000015.9:g.93515595G>A	VUS	1 lab	d9625c3fe3
19:11353969 DOCK6 G>C	19	11353969	11353969	G	C	DOCK6	c.1351C>G	NM_020812.3	NP_065863.2:p.(Pro451Ala)	NC_000019.9:g.11353969G>C	VUS	1 lab	d862803b0e
11:46740798 F2 C>T	11	46740798	46740798	C	T	F2	c.13C>T	NM_000506.5	NP_000497.1:p.(Arg5Ter)	NC_000011.9:g.46740798C>T	(Likely) pathogenic	1 lab	d863f96fd6
5:240501 SDHA C>T	5	240501	240501	C	T	SDHA	c.1461C>T	NM_004168.2	NP_004159.2:p.(Asn487=)	NC_000005.9:g.240501C>T	(Likely) benign	1 lab	d86493a92b
7:21751473 DNAH11 G>A	7	21751473	21751473	G	A	DNAH11	c.6978G>A	NM_001277115.2	NP_001264044.1:p.(Trp2326Ter)	NC_000007.13:g.21751473G>A	(Likely) pathogenic	1 lab	d865911d2a
12:14772225 GUCY2C A>G	12	14772225	14772225	A	G	GUCY2C	c.2795T>C	NM_004963.4	NP_004954.2:p.(Val932Ala)	NC_000012.11:g.14772225A>G	(Likely) pathogenic	1 lab	d865adb6e3
3:69988315 MITF C>T	3	69988315	69988315	C	T	MITF	c.328C>T	NM_000248.3	NP_000239.1:p.(Arg110Ter)	NC_000003.11:g.69988315C>T	(Likely) pathogenic	1 lab	d8666c5c87
11:64522310 PYGM T>G	11	64522310	64522310	T	G	PYGM	c.856-2A>C	NM_005609.2	NP_005600.1:p.?	NC_000011.9:g.64522310T>G	(Likely) pathogenic	1 lab	d8673fca80
11:108165681 ATM G>A	11	108165681	108165681	G	A	ATM	c.4804G>A	NM_000051.3	NP_000042.3:p.(Val1602Ile)	NC_000011.9:g.108165681G>A	(Likely) benign	1 lab	d86d8e9c85
20:39750753 TOP1 C>G	20	39750753	39750753	C	G	TOP1	c.2153C>G	NM_003286.3	NP_003277.1:p.(Thr718Ser)	NC_000020.10:g.39750753C>G	VUS	1 lab	d86dc66904
2:48033780 FBXO11 C>T	2	48033780	48033780	C	T	FBXO11				NC_000002.11:g.48033780C>T	(Likely) pathogenic	1 lab	d8714cb3b8
18:19756950 GATA6 C>A	18	19756950	19756950	C	A	GATA6	c.1170C>A	NM_005257.5	NP_005248.2:p.(Cys390Ter)	NC_000018.9:g.19756950C>A	(Likely) pathogenic	1 lab	d873ee27ae
X:41782241 CASK T>C	X	41782241	41782241	T	C	CASK	c.1A>G	NM_003688.3	NP_003679.2:p.(Met1?)	NC_000023.10:g.41782241T>C	(Likely) pathogenic	1 lab	d8e1d72379
X:50341348 SHROOM4 T>G	X	50341348	50341348	T	G	SHROOM4	c.4130A>C	NM_020717.3	NP_065768.2:p.(Asn1377Thr)	NC_000023.10:g.50341348T>G	(Likely) benign	1 lab	d8743a8bb7
3:52327048 GLYCTK T>G	3	52327048	52327048	T	G	GLYCTK				NC_000003.11:g.52327048T>G	(Likely) pathogenic	1 lab	d874c9b044
X:107911736 COL4A5 T>C	X	107911736	107911736	T	C	COL4A5	c.3790+2T>C	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107911736T>C	(Likely) pathogenic	1 lab	d875c54512
10:67680276 CTNNA3 G>A	10	67680276	67680276	G	A	CTNNA3	c.2500C>T	NM_013266.4	NP_037398.2:p.(Arg834Ter)	NC_000010.10:g.67680276G>A	VUS	1 lab	12daffd272
13:32972586 BRCA2 A>G	13	32972586	32972586	A	G	BRCA2	c.9936A>G	NM_000059.3	NP_000050.2:p.(Ile3312Met)	NC_000013.10:g.32972586A>G	(Likely) benign	1 lab	d885954ad5
12:6145649 VWF A>T	12	6145649	6145649	A	T	VWF	c.2451T>A	NM_000552.3	NP_000543.2:p.(His817Gln)	NC_000012.11:g.6145649A>T	(Likely) benign	1 lab	d886c00715
2:227875056 COL4A4 G>A	2	227875056	227875056	G	A	COL4A4	c.4495C>T	NM_000092.5	NP_000083.3:p.(Gln1499Ter)	NC_000002.11:g.227875056G>A	(Likely) pathogenic	1 lab	d887e8cdc9
13:32953596 BRCA2 T>C	13	32953596	32953596	T	C	BRCA2	c.8897T>C	NM_000059.3	NP_000050.2:p.(Val2966Ala)	NC_000013.10:g.32953596T>C	VUS	1 lab	d889370eca
2:191874667 STAT1 A>G	2	191874667	191874667	A	G	STAT1	c.63T>C	NM_007315.3	NP_009330.1:p.(Leu21=)	NC_000002.11:g.191874667A>G	(Likely) benign	1 lab	d88982b68c
20:56140076 PCK1 C>CTT	20	56140076	56140085	C	CTT	PCK1	c.1319-12_1319-11dup	NM_002591.4	NP_002582.3:p.?	NC_000020.10:g.56140084_56140085dup	(Likely) benign	1 lab	12e0c350b3
18:55336548 ATP8B1 A>G	18	55336548	55336548	A	G	ATP8B1	c.2097+2T>C	NM_005603.5	NP_005594.1:p.?	NC_000018.9:g.55336548A>G	(Likely) pathogenic	1 lab	d88f0a92bf
17:58711260 PPM1D C>T	17	58711260	58711260	C	T	PPM1D	c.748C>T	NM_003620.3	NP_003611.1:p.(Arg250Ter)	NC_000017.10:g.58711260C>T	VUS	1 lab	d88f0f84d2
X:107849930 COL4A5 TC>T	X	107849930	107849931	TC	T	COL4A5	c.2245-41del	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107849931del	(Likely) pathogenic	1 lab	d88f11914f
2:176958339 HOXD13 C>T	2	176958339	176958339	C	T	HOXD13				NC_000002.11:g.176958339C>T	(Likely) pathogenic	1 lab	d892103808
12:13906719 GRIN2B T>G	12	13906719	13906719	T	G	GRIN2B	c.542A>C	NM_000834.3	NP_000825.2:p.(Asp181Ala)	NC_000012.11:g.13906719T>G	(Likely) benign	1 lab	d893348e91
X:135741279 CD40LG AAAGAC>A	X	135741279	135741287	AAAGAC	A	CD40LG	c.495_499del	NM_000074.3	NP_000065.1:p.(Gln166ThrfsTer33)	NC_000023.10:g.135741283_135741287del	(Likely) pathogenic	1 lab	1563b7598f
1:201328386 TNNT2 G>A	1	201328386	201328386	G	A	TNNT2	c.822-3C>T	NM_001276347.2	NP_001263276.1:p.?	NC_000001.10:g.201328386G>A	VUS	1 lab	156400ee0a
1:169500178 F5 G>C	1	169500178	169500178	G	C	F5	c.5054C>G	NM_000130.4	NP_000121.2:p.(Thr1685Ser)	NC_000001.10:g.169500178G>C	(Likely) benign	1 lab	d8a51e9028
2:71171258 ATP6V1B1 G>A	2	71171258	71171258	G	A	ATP6V1B1	c.174+415G>A	NM_001692.3	NP_001683.2:p.?	NC_000002.11:g.71171258G>A	VUS	1 lab	d8a8090073
20:57876725 EDN3 A>G	20	57876725	57876725	A	G	EDN3	c.313A>G	NM_207034.2	NP_996917.1:p.(Lys105Glu)	NC_000020.10:g.57876725A>G	VUS	1 lab	d8aa183ac7
1:216420285 USH2A G>T	1	216420285	216420285	G	T	USH2A	c.2451C>A	NM_206933.4	NP_996816.3:p.(Cys817Ter)	NC_000001.10:g.216420285G>T	(Likely) pathogenic	1 lab	d8abfa59df
2:145274917 ZEB2 T>C	2	145274917	145274917	T	C	ZEB2	c.1A>G	NM_014795.4	NP_055610.1:p.(Met1?)	NC_000002.11:g.145274917T>C	(Likely) benign	1 lab	d8ac1f93d2
3:121994761 CASR T>C	3	121994761	121994761	T	C	CASR	c.1480T>C	NM_000388.3	NP_000379.2:p.(Trp494Arg)	NC_000003.11:g.121994761T>C	VUS	1 lab	d8ad645d49
14:94964104 SERPINA12 G>A	14	94964104	94964104	G	A	SERPINA12	c.631C>T	NM_173850.3	NP_776249.1:p.(Arg211Ter)	NC_000014.8:g.94964104G>A	(Likely) pathogenic	1 lab	d8b1e106a8
3:130110291 COL6A5 G>T	3	130110291	130110291	G	T	COL6A5	c.2686G>T	NM_001278298.1	NP_001265227.1:p.(Ala896Ser)	NC_000003.11:g.130110291G>T	VUS	1 lab	d8b367d739
1:94564378 ABCA4 T>A	1	94564378	94564378	T	A	ABCA4	c.740A>T	NM_000350.2	NP_000341.2:p.(Asn247Ile)	NC_000001.10:g.94564378T>A	VUS	1 lab	d8b5cf57d6
18:52896224 TCF4 C>A	18	52896224	52896224	C	A	TCF4	c.1733G>T	NM_001083962.1	NP_001077431.1:p.(Arg578Leu)	NC_000018.9:g.52896224C>A	(Likely) pathogenic	1 lab	d8b7ebcb13
22:30051598 NF2 C>T	22	30051598	30051598	C	T	NF2	c.532C>T	NM_000268.3	NP_000259.1:p.(Gln178Ter)	NC_000022.10:g.30051598C>T	(Likely) pathogenic	1 lab	d8c09a8694
11:47371496 MYBPC3 C>T	11	47371496	47371496	C	T	MYBPC3	c.506-23G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371496C>T	(Likely) benign	1 lab	d8c110acf4
10:112541055 RBM20 G>A	10	112541055	112541055	G	A	RBM20	c.688G>A	NM_001134363.3	NP_001127835.2:p.(Glu230Lys)	NC_000010.10:g.112541055G>A	VUS	1 lab	12e674e7d4
3:183887986 DVL3 G>C	3	183887986	183887986	G	C	DVL3	c.1691G>C	NM_004423.3	NP_004414.3:p.(Ser564Thr)	NC_000003.11:g.183887986G>C	(Likely) benign	1 lab	d8c9542987
14:50649239 SOS2 A>G	14	50649239	50649239	A	G	SOS2	c.800T>C	NM_006939.2	NP_008870.2:p.(Met267Thr)	NC_000014.8:g.50649239A>G	(Likely) pathogenic	1 lab	d8ccf4d3a1
5:112175322 APC C>G	5	112175322	112175322	C	G	APC	c.4031C>G	NM_000038.5	NP_000029.2:p.(Ser1344Ter)	NC_000005.9:g.112175322C>G	(Likely) pathogenic	1 lab	d8ce2937d2
1:196757874 CFHR3 G>A	1	196757874	196757874	G	A	CFHR3	c.613+346G>A	NM_021023.6	NP_066303.2:p.?	NC_000001.10:g.196757874G>A	(Likely) benign	1 lab	d8cf73eb6b
2:37366773 EIF2AK2 C>T	2	37366773	37366773	C	T	EIF2AK2	c.516+1G>A	NM_001135651.2	NP_001129123.1:p.?	NC_000002.11:g.37366773C>T	(Likely) benign	1 lab	d8d005c587
14:105677514 BRF1 AG>A	14	105677514	105677516	AG	A	BRF1	c.1940del	NM_001519.4	NP_001510.2:p.(Pro647LeufsTer15)	NC_000014.8:g.105677516del	(Likely) pathogenic	1 lab	d8d3cf82b0
16:15838984 MYH11 A>C	16	15838984	15838984	A	C	MYH11	c.2520+2T>G	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15838984A>C	(Likely) pathogenic	1 lab	d8d4c2fad8
1:46657796 POMGNT1 C>T	1	46657796	46657796	C	T	POMGNT1	c.1513G>A	NM_017739.3	NP_060209.3:p.(Gly505Ser)	NC_000001.10:g.46657796C>T	(Likely) pathogenic	1 lab	d8d59ef92f
15:63352140 TPM1 G>T	15	63352140	63352140	G	T	TPM1	c.492+261G>T	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63352140G>T	(Likely) benign	1 lab	d8d6e921fc
18:43508800 EPG5 G>A	18	43508800	43508800	G	A	EPG5	c.2553+35C>T	NM_020964.2	NP_066015.2:p.?	NC_000018.9:g.43508800G>A	(Likely) benign	1 lab	d8d9eb69b6
16:1652561 IFT140 C>T	16	1652561	1652561	C	T	IFT140	c.179G>A	NM_014714.3	NP_055529.2:p.(Arg60Lys)	NC_000016.9:g.1652561C>T	(Likely) benign	1 lab	d8e3e64a69
2:166894436 SCN1A C>T	2	166894436	166894436	C	T	SCN1A	c.2796G>A	NM_001165963.2	NP_001159435.1:p.(Trp932Ter)	NC_000002.11:g.166894436C>T	(Likely) pathogenic	1 lab	d8e72b8e34
1:94486964 ABCA4 A>T	1	94486964	94486964	A	T	ABCA4	c.4850T>A	NM_000350.2	NP_000341.2:p.(Val1617Glu)	NC_000001.10:g.94486964A>T	VUS	1 lab	d8e78f6910
13:39264468 FREM2 T>A	13	39264468	39264468	T	A	FREM2	c.2987T>A	NM_207361.5	NP_997244.4:p.(Val996Asp)	NC_000013.10:g.39264468T>A	VUS	1 lab	d8e7a7a1c1
17:70120419 SOX9 G>T	17	70120419	70120419	G	T	SOX9	c.1421G>T	NM_000346.3	NP_000337.1:p.(Arg474Leu)	NC_000017.10:g.70120419G>T	VUS	1 lab	d8ea166189
2:168099197 XIRP2 G>A	2	168099197	168099197	G	A	XIRP2	c.1295G>A	NM_152381.5	NP_689594.4:p.(Ser432Asn)	NC_000002.11:g.168099197G>A	(Likely) benign	1 lab	d8eb41cab1
18:44057674 LOXHD1 G>A	18	44057674	44057674	G	A	LOXHD1	c.6397C>T	NM_144612.6	NP_653213.6:p.(Arg2133Cys)	NC_000018.9:g.44057674G>A	VUS	1 lab	d8f0e3327a
4:15599057 CC2D2A G>C	4	15599057	15599057	G	C	CC2D2A	c.4465G>C	NM_001080522.2	NP_001073991.2:p.(Asp1489His)	NC_000004.11:g.15599057G>C	VUS	1 lab	d8f22f49f0
17:1630156 WDR81 C>T	17	1630156	1630156	C	T	WDR81	c.1903C>T	NM_001163809.1	NP_001157281.1:p.(Arg635Trp)	NC_000017.10:g.1630156C>T	VUS	1 lab	d8f28f7038
12:48367054 COL2A1 G>A	12	48367054	48367054	G	A	COL2A1	c.*136C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48367054G>A	(Likely) benign	1 lab	d8f5287d5f
5:1878416 IRX4 C>G	5	1878416	1878416	C	G	IRX4	c.1305G>C	NM_001278633.1	NP_001265562.1:p.(Ala435=)	NC_000005.9:g.1878416C>G	(Likely) benign	1 lab	d8f68e7eb7
10:75758073 VCL C>T	10	75758073	75758073	C	T	VCL	c.108C>T	NM_014000.2	NP_054706.1:p.(Ala36=)	NC_000010.10:g.75758073C>T	(Likely) benign	1 lab	d935d21a64
9:130425523 STXBP1 T>C	9	130425523	130425523	T	C	STXBP1	c.469T>C	NM_001032221.6	NP_001027392.1:p.(Tyr157His)	NC_000009.11:g.130425523T>C	(Likely) pathogenic	1 lab	d8f9e6f82b
8:21904046 FGF17 A>G	8	21904046	21904046	A	G	FGF17	c.259A>G	NM_003867.4	NP_003858.1:p.(Ile87Val)	NC_000008.10:g.21904046A>G	VUS	1 lab	d8fa278b42
3:38645378 SCN5A GC>AA	3	38645378	38645379	GC	AA	SCN5A	c.1714_1715delinsTT	NM_198056.2	NP_932173.1:p.(Ala572Phe)	NC_000003.11:g.38645378_38645379delinsAA	(Likely) benign	1 lab	d8fbe1ac16
5:149740775 TCOF1 G>A	5	149740775	149740775	G	A	TCOF1	c.164+1G>A	NM_001135243.1	NP_001128715.1:p.?	NC_000005.9:g.149740775G>A	(Likely) pathogenic	1 lab	d8fd5192ff
9:109690016 ZNF462 C>T	9	109690016	109690016	C	T	ZNF462	c.3823C>T	NM_021224.6	NP_067047.4:p.(Pro1275Ser)	NC_000009.11:g.109690016C>T	VUS	1 lab	12f274273c
11:76829405 CAPN5 G>A	11	76829405	76829405	G	A	CAPN5	c.1167+7G>A	NM_004055.4	NP_004046.2:p.?	NC_000011.9:g.76829405G>A	(Likely) benign	1 lab	d8fee7ab58
19:55648491 TNNT1 G>T	19	55648491	55648491	G	T	TNNT1	c.591C>A	NM_003283.5	NP_003274.3:p.(Tyr197Ter)	NC_000019.9:g.55648491G>T	(Likely) pathogenic	1 lab	d900f71439
2:179480218 TTN C>T	2	179480218	179480218	C	T	TTN	c.48461-7G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179480218C>T	(Likely) benign	1 lab	d90371817e
11:76873891 MYO7A C>G	11	76873891	76873891	C	G	MYO7A	c.1555-8C>G	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76873891C>G	(Likely) pathogenic	1 lab	d9064245da
1:237753955 RYR2 G>A	1	237753955	237753955	G	A	RYR2	c.3823G>A	NM_001035.2	NP_001026.2:p.(Gly1275Ser)	NC_000001.10:g.237753955G>A	VUS	1 lab	d906fe0036
19:41350641 CYP2A6 T>A	19	41350641	41350641	T	A	CYP2A6	c.1198A>T	NM_000762.6	NP_000753.3:p.(Arg400Ter)	NC_000019.9:g.41350641T>A	VUS	1 lab	12f45c0aba
2:31572670 XDH C>T	2	31572670	31572670	C	T	XDH	c.2851G>A	NM_000379.4	NP_000370.2:p.(Gly951Arg)	NC_000002.11:g.31572670C>T	VUS	1 lab	12f4f109a7
19:2250479 AMH G>T	19	2250479	2250479	G	T	AMH	c.555+1G>T	NM_000479.5	NP_000470.3:p.?	NC_000019.9:g.2250479G>T	(Likely) pathogenic	1 lab	d9098ebe63
22:40815085 MRTFA C>CG	22	40815085	40815091	C	CG	MRTFA				NC_000022.10:g.40815091dup	(Likely) pathogenic	1 lab	d90ac171b7
14:59107595 DACT1 T>G	14	59107595	59107595	T	G	DACT1	c.478+9T>G	NM_016651.6	NP_057735.2:p.?	NC_000014.8:g.59107595T>G	(Likely) benign	1 lab	15684f9ba3
3:38739920 SCN10A G>A	3	38739920	38739920	G	A	SCN10A	c.4791C>T	NM_006514.3	NP_006505.3:p.(Leu1597=)	NC_000003.11:g.38739920G>A	(Likely) benign	1 lab	d90d580d00
5:112175360 APC G>T	5	112175360	112175360	G	T	APC	c.4069G>T	NM_000038.5	NP_000029.2:p.(Gly1357Ter)	NC_000005.9:g.112175360G>T	(Likely) pathogenic	1 lab	d912950fbf
6:31994782 C4B C>T	6	31994782	31994782	C	T	C4B	c.2475C>T	NM_001002029.3	NP_001002029.3:p.(Val825=)	NC_000006.11:g.31994782C>T	(Likely) benign	1 lab	d9139d1d35
X:119562442 LAMP2 A>G	X	119562442	119562442	A	G	LAMP2				NC_000023.10:g.119562442A>G	(Likely) benign	1 lab	d9638673ef
16:3794929 CREBBP GC>G	16	3794929	3794931	GC	G	CREBBP	c.3947del	NM_004380.3	NP_004371.2:p.(Gly1316AlafsTer27)	NC_000016.9:g.3794931del	(Likely) pathogenic	1 lab	d913acf140
X:54494229 FGD1 C>T	X	54494229	54494229	C	T	FGD1	c.1328G>A	NM_004463.2	NP_004454.2:p.(Arg443His)	NC_000023.10:g.54494229C>T	(Likely) pathogenic	1 lab	d9158b80a2
2:200188573 SATB2 T>A	2	200188573	200188573	T	A	SATB2				NC_000002.11:g.200188573T>A	(Likely) pathogenic	1 lab	d9172cc235
7:65445307 GUSB C>G	7	65445307	65445307	C	G	GUSB				NC_000007.13:g.65445307C>G	VUS	1 lab	d9175a2b96
14:21883113 CHD8 C>G	14	21883113	21883113	C	G	CHD8	c.2008G>C	NM_001170629.2	NP_001164100.1:p.(Val670Leu)	NC_000014.8:g.21883113C>G	VUS	1 lab	d9177c9e84
13:101910862 NALCN C>T	13	101910862	101910862	C	T	NALCN	c.1198G>A	NM_001350748.1	NP_001337677.1:p.(Val400Met)	NC_000013.10:g.101910862C>T	VUS	1 lab	d917a3d25e
22:41513812 EP300 C>T	22	41513812	41513812	C	T	EP300	c.716C>T	NM_001429.3	NP_001420.2:p.(Pro239Leu)	NC_000022.10:g.41513812C>T	(Likely) benign	1 lab	d91a731c33
11:47364256 MYBPC3 GA>G	11	47364256	47364258	GA	G	MYBPC3	c.1496del	NM_000256.3	NP_000247.2:p.(Phe499SerfsTer14)	NC_000011.9:g.47364258del	(Likely) pathogenic	1 lab	d91ab63659
3:129225249 IFT122 C>G	3	129225249	129225249	C	G	IFT122	c.2804-3C>G	NM_052985.2	NP_443711.2:p.?	NC_000003.11:g.129225249C>G	(Likely) pathogenic	1 lab	d91c826d32
12:48372415 COL2A1 C>T	12	48372415	48372415	C	T	COL2A1	c.2860G>A	NM_001844.4	NP_001835.3:p.(Gly954Ser)	NC_000012.11:g.48372415C>T	(Likely) pathogenic	1 lab	d91cad7c9d
11:121032819 TECTA C>T	11	121032819	121032819	C	T	TECTA	c.5012C>T	NM_005422.2	NP_005413.2:p.(Ser1671Leu)	NC_000011.9:g.121032819C>T	(Likely) benign	1 lab	d937ce6bcf
21:34926254 SON A>C	21	34926254	34926254	A	C	SON	c.4717A>C	NM_032195.3	NP_115571.3:p.(Lys1573Gln)	NC_000021.8:g.34926254A>C	VUS	1 lab	12fb20f89f
1:103474073 COL11A1 CT>C	1	103474073	103474074	CT	C	COL11A1	c.1630-2del	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103474074del	(Likely) pathogenic	1 lab	d924f5186a
12:9020489 A2ML1 A>C	12	9020489	9020489	A	C	A2ML1				NC_000012.11:g.9020489A>C	(Likely) benign	1 lab	d9250687c3
1:216173861 USH2A G>A	1	216173861	216173861	G	A	USH2A	c.6369C>T	NM_206933.2	NP_996816.2:p.(Cys2123=)	NC_000001.10:g.216173861G>A	(Likely) benign	1 lab	d9267bbea7
12:121881921 KDM2B G>A	12	121881921	121881921	G	A	KDM2B	c.2345C>T	NM_032590.5	NP_115979.3:p.(Ser782Leu)	NC_000012.11:g.121881921G>A	VUS	1 lab	12fb7c625f
19:615799 HCN2 G>T	19	615799	615799	G	T	HCN2	c.1995G>T	NM_001194.4	NP_001185.3:p.(Lys665Asn)	NC_000019.9:g.615799G>T	VUS	1 lab	d9280bd65a
15:66727483 MAP2K1 G>A	15	66727483	66727483	G	A	MAP2K1	c.199G>A	NM_002755.3	NP_002746.1:p.(Asp67Asn)	NC_000015.9:g.66727483G>A	(Likely) pathogenic	1 lab	d9290852ae
11:129780436 PRDM10 T>G	11	129780436	129780436	T	G	PRDM10	c.3098A>C	NM_199437.2	NP_955469.1:p.(Gln1033Pro)	NC_000011.9:g.129780436T>G	(Likely) benign	1 lab	d92a465eb7
7:75610860 POR C>T	7	75610860	75610860	C	T	POR	c.667C>T	NM_000941.2	NP_000932.3:p.(Arg223Ter)	NC_000007.13:g.75610860C>T	(Likely) pathogenic	1 lab	d92ce6aef2
16:1511461 CLCN7 T>C	16	1511461	1511461	T	C	CLCN7	c.296A>G	NM_001287.6	NP_001278.1:p.(Tyr99Cys)	NC_000016.9:g.1511461T>C	(Likely) pathogenic	1 lab	d92f3f25d5
19:18979669 GDF1 T>TGACCCAGCGGTGCC	19	18979669	18979683	T	TGACCCAGCGGTGCC	GDF1	c.842_855dup	NM_001492.6	NP_001483.3:p.(Ile286GlyfsTer104)	NC_000019.9:g.18979670_18979683dup	VUS	1 lab	12fda19ead
2:145158871 ZEB2 G>A	2	145158871	145158871	G	A	ZEB2				NC_000002.11:g.145158871G>A	(Likely) pathogenic	1 lab	d931f418c1
1:237838111 RYR2 A>G	1	237838111	237838111	A	G	RYR2	c.8795A>G	NM_001035.3	NP_001026.2:p.(Tyr2932Cys)	NC_000001.10:g.237838111A>G	VUS	1 lab	156a4237e1
20:62065258 KCNQ2 T>A	20	62065258	62065258	T	A	KCNQ2	c.1024-2A>T	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62065258T>A	(Likely) pathogenic	1 lab	d9330d4286
12:48368041 COL2A1 G>A	12	48368041	48368041	G	A	COL2A1				NC_000012.11:g.48368041G>A	VUS	1 lab	d934eda9c9
22:29130433 CHEK2 A>G	22	29130433	29130433	A	G	CHEK2	c.277T>C	NM_007194.3	NP_009125.1:p.(Trp93Arg)	NC_000022.10:g.29130433A>G	VUS	1 lab	d93baae0e1
3:93619677 PROS1 C>T	3	93619677	93619677	C	T	PROS1	c.698G>A	NM_000313.4	NP_000304.2:p.(Arg233Lys)	NC_000003.11:g.93619677C>T	(Likely) benign	1 lab	d942952705
1:169484767 F5 A>G	1	169484767	169484767	A	G	F5	c.6443T>C	NM_000130.4	NP_000121.2:p.(Met2148Thr)	NC_000001.10:g.169484767A>G	(Likely) benign	1 lab	d942d1826c
13:32931938 BRCA2 T>C	13	32931938	32931938	T	C	BRCA2	c.7677T>C	NM_000059.3	NP_000050.2:p.(Ser2559=)	NC_000013.10:g.32931938T>C	(Likely) benign	1 lab	d943a0b5b3
11:103229013 DYNC2H1 G>T	11	103229013	103229013	G	T	DYNC2H1	c.12103G>T	NM_001080463.2	NP_001073932.1:p.(Gly4035Cys)	NC_000011.9:g.103229013G>T	VUS	1 lab	1306d7aa4a
17:33430511 RAD51D G>T	17	33430511	33430511	G	T	RAD51D	c.629C>A	NM_002878.3	NP_002869.3:p.(Ala210Glu)	NC_000017.10:g.33430511G>T	VUS	1 lab	d94647f3e5
7:112115658 IFRD1 C>T	7	112115658	112115658	C	T	IFRD1	c.*84C>T	NM_001550.4	NP_001541.2:p.?	NC_000007.13:g.112115658C>T	(Likely) benign	1 lab	d948c68e24
11:66001418 PACS1 C>T	11	66001418	66001418	C	T	PACS1				NC_000011.9:g.66001418C>T	(Likely) benign	1 lab	d95c339a13
19:50919867 POLD1 G>C	19	50919867	50919867	G	C	POLD1	c.2954G>C	NM_002691.3	NP_002682.2:p.(Arg985Pro)	NC_000019.9:g.50919867G>C	VUS	1 lab	d95c712ef3
16:2126088 TSC2 T>C	16	2126088	2126088	T	C	TSC2	c.2659T>C	NM_000548.4	NP_000539.2:p.(Cys887Arg)	NC_000016.9:g.2126088T>C	VUS	1 lab	d95d4b3276
14:23884803 MYH7 T>C	14	23884803	23884803	T	C	MYH7	c.5157+35A>G	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23884803T>C	(Likely) benign	1 lab	d95f4f1878
4:148463632 EDNRA A>G	4	148463632	148463632	A	G	EDNRA	c.1146A>G	NM_001957.4	NP_001948.1:p.(Ser382=)	NC_000004.11:g.148463632A>G	(Likely) benign	1 lab	156ab01031
12:53069216 KRT1 A>AGCTG	12	53069216	53069220	A	AGCTG	KRT1	c.1692_1695dup	NM_006121.3	NP_006112.3:p.(Tyr566GlnfsTer89)	NC_000012.11:g.53069217_53069220dup	(Likely) pathogenic	1 lab	d9673eef33
22:29130748 CHEK2 G>A	22	29130748	29130748	G	A	CHEK2	c.-6-33C>T	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29130748G>A	(Likely) benign	1 lab	d96cb44c4f
2:167318936 SCN7A A>T	2	167318936	167318936	A	T	SCN7A	c.1046T>A	NM_002976.3	NP_002967.2:p.(Leu349Ter)	NC_000002.11:g.167318936A>T	VUS	1 lab	d9738d26bf
2:167089999 SCN9A G>T	2	167089999	167089999	G	T	SCN9A	c.3769-27C>A	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167089999G>T	(Likely) benign	1 lab	d973afee18
5:176721945 NSD1 C>T	5	176721945	176721945	C	T	NSD1	c.7576C>T	NM_022455.5	NP_071900.2:p.(Pro2526Ser)	NC_000005.9:g.176721945C>T	(Likely) benign	1 lab	130d1a45ac
16:2134571 TSC2 C>G	16	2134571	2134571	C	G	TSC2	c.4348C>G	NM_000548.4	NP_000539.2:p.(Pro1450Ala)	NC_000016.9:g.2134571C>G	VUS	1 lab	d97576f7dc
7:91712685 AKAP9 A>T	7	91712685	91712685	A	T	AKAP9	c.8362A>T	NM_005751.5	NP_005742.4:p.(Ile2788Phe)	NC_000007.13:g.91712685A>T	(Likely) benign	1 lab	d97938e3a9
3:45557707 LARS2 G>A	3	45557707	45557707	G	A	LARS2	c.1983G>A	NM_015340.3	NP_056155.1:p.(Thr661=)	NC_000003.11:g.45557707G>A	(Likely) benign	1 lab	d97b722fac
11:108138154 ATM G>T	11	108138154	108138154	G	T	ATM	c.2638+85G>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108138154G>T	(Likely) benign	1 lab	d97edf0c3d
3:38941480 SCN11A T>C	3	38941480	38941480	T	C	SCN11A	c.1927A>G	NM_014139.3	NP_054858.2:p.(Ile643Val)	NC_000003.11:g.38941480T>C	(Likely) benign	1 lab	d9802a5a6a
2:191840555 STAT1 C>T	2	191840555	191840555	C	T	STAT1	c.2118G>A	NM_007315.3	NP_009330.1:p.(Leu706=)	NC_000002.11:g.191840555C>T	(Likely) benign	1 lab	1570caf31e
8:38272338 FGFR1 G>A	8	38272338	38272338	G	A	FGFR1	c.1936C>T	NM_023110.3	NP_075598.2:p.(Arg646Trp)	NC_000008.10:g.38272338G>A	(Likely) pathogenic	1 lab	d985f45eb2
12:6219687 VWF G>T	12	6219687	6219687	G	T	VWF	c.385C>A	NM_000552.5	NP_000543.3:p.(Leu129Met)	NC_000012.11:g.6219687G>T	(Likely) benign	1 lab	d987a953cb
8:63976764 TTPA C>T	8	63976764	63976764	C	T	TTPA	c.663+1G>A	NM_000370.3	NP_000361.1:p.?	NC_000008.10:g.63976764C>T	(Likely) pathogenic	1 lab	d9884fd9bd
4:187195393 F11 C>T	4	187195393	187195393	C	T	F11	c.449C>T	NM_000128.4	NP_000119.1:p.(Thr150Met)	NC_000004.11:g.187195393C>T	(Likely) pathogenic	1 lab	d98da12182
12:51393116 SLC11A2 C>T	12	51393116	51393116	C	T	SLC11A2	c.607+12G>A	NM_000617.2	NP_000608.1:p.?	NC_000012.11:g.51393116C>T	(Likely) benign	1 lab	d98dfae029
20:3063623 AVP C>A	20	3063623	3063623	C	A	AVP	c.322G>T	NM_000490.4	NP_000481.2:p.(Glu108Ter)	NC_000020.10:g.3063623C>A	(Likely) pathogenic	1 lab	d9933d1d85
17:56770138 RAD51C A>C	17	56770138	56770138	A	C	RAD51C	c.134A>C	NM_058216.3	NP_478123.1:p.(Glu45Ala)	NC_000017.10:g.56770138A>C	VUS	1 lab	d9939f5e44
17:18891678 SACK1G T>A	17	18891678	18891678	T	A	SACK1G	c.572A>T	NM_001039999.3	NP_001035088.2:p.(Asp191Val)	NC_000017.10:g.18891678T>A	VUS	1 lab	d9975d9633
12:80672818 OTOGL C>T	12	80672818	80672818	C	T	OTOGL				NC_000012.11:g.80672818C>T	(Likely) pathogenic	1 lab	d99feb745d
13:32915125 BRCA2 T>C	13	32915125	32915125	T	C	BRCA2	c.6633T>C	NM_000059.3	NP_000050.2:p.(Val2211=)	NC_000013.10:g.32915125T>C	(Likely) benign	1 lab	d9a12524b5
2:103136309 SLC9A4 T>C	2	103136309	103136309	T	C	SLC9A4	c.1722-9T>C	NM_001011552.3	NP_001011552.2:p.?	NC_000002.11:g.103136309T>C	(Likely) benign	1 lab	d9a311cb07
8:61720833 CHD7 T>C	8	61720833	61720833	T	C	CHD7				NC_000008.10:g.61720833T>C	(Likely) pathogenic	1 lab	d9a34ef82d
5:112175235 APC C>A	5	112175235	112175235	C	A	APC	c.3944C>A	NM_000038.6	NP_000029.2:p.(Ser1315Ter)	NC_000005.9:g.112175235C>A	(Likely) pathogenic	1 lab	d9a596ca3b
11:118037779 SCN2B C>G	11	118037779	118037779	C	G	SCN2B	c.471G>C	NM_004588.4	NP_004579.1:p.(Thr157=)	NC_000011.9:g.118037779C>G	(Likely) benign	1 lab	d9a6e9859c
7:83032067 SEMA3E A>C	7	83032067	83032067	A	C	SEMA3E	c.1024T>G	NM_012431.3	NP_036563.1:p.(Cys342Gly)	NC_000007.13:g.83032067A>C	VUS	1 lab	130e84e0be
16:56904082 SLC12A3 G>A	16	56904082	56904082	G	A	SLC12A3	c.676G>A	NM_000339.2	NP_000330.2:p.(Ala226Thr)	NC_000016.9:g.56904082G>A	VUS	1 lab	d9b2d5d050
X:53674333 HUWE1 C>T	X	53674333	53674333	C	T	HUWE1	c.329G>A	NM_031407.7	NP_113584.3:p.(Arg110Gln)	NC_000023.10:g.53674333C>T	(Likely) pathogenic	1 lab	d9b3f13bc6
9:109688924 ZNF462 G>C	9	109688924	109688924	G	C	ZNF462	c.2731G>C	NM_021224.5	NP_067047.4:p.(Glu911Gln)	NC_000009.11:g.109688924G>C	VUS	1 lab	d9b8c9da36
8:48689562 PRKDC G>T	8	48689562	48689562	G	T	PRKDC	c.12043-18C>A	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48689562G>T	(Likely) benign	1 lab	1577784e14
19:18965716 UPF1 G>A	19	18965716	18965716	G	A	UPF1	c.1294G>A	NM_002911.4	NP_002902.2:p.(Val432Met)	NC_000019.9:g.18965716G>A	VUS	1 lab	130f620ce7
X:54472700 FGD1 G>A	X	54472700	54472700	G	A	FGD1	c.2728C>T	NM_004463.2	NP_004454.2:p.(Arg910Ter)	NC_000023.10:g.54472700G>A	(Likely) pathogenic	1 lab	d9bf55bb8c
X:49853413 CLCN5 T>C	X	49853413	49853413	T	C	CLCN5	c.1406T>C	NM_000084.5	NP_000075.1:p.(Leu469Pro)	NC_000023.10:g.49853413T>C	(Likely) pathogenic	1 lab	d9c1520cb7
10:12155027 DHTKD1 CATT>C	10	12155027	12155030	CATT	C	DHTKD1	c.2284_2286del	NM_018706.7	NP_061176.4:p.(Ile762del)	NC_000010.10:g.12155028_12155030del	VUS	1 lab	d9c33325d5
16:56912068 SLC12A3 C>T	16	56912068	56912068	C	T	SLC12A3	c.1175C>T	NM_000339.2	NP_000330.2:p.(Thr392Ile)	NC_000016.9:g.56912068C>T	(Likely) pathogenic	1 lab	d9ccb95281
18:21427571 LAMA3 T>G	18	21427571	21427571	T	G	LAMA3	c.4075T>G	NM_198129.4	NP_937762.2:p.(Ser1359Ala)	NC_000018.9:g.21427571T>G	VUS	1 lab	13166b5173
5:112174775 APC TATAGC>T	5	112174775	112174783	TATAGC	T	APC	c.3488_3492del	NM_000038.6	NP_000029.2:p.(Ser1163LysfsTer3)	NC_000005.9:g.112174779_112174783del	(Likely) pathogenic	1 lab	d9d0dbf06f
12:48378873 COL2A1 C>A	12	48378873	48378873	C	A	COL2A1	c.1738G>T	NM_001844.4	NP_001835.3:p.(Ala580Ser)	NC_000012.11:g.48378873C>A	(Likely) benign	1 lab	d9d22969b3
10:13168026 OPTN T>C	10	13168026	13168026	T	C	OPTN	c.1229T>C	NM_021980.4	NP_068815.2:p.(Leu410Pro)	NC_000010.10:g.13168026T>C	VUS	1 lab	d9d25c6588
3:169482401 TERC T>C	3	169482401	169482401	T	C	TERC	n.448A>G	NR_001566.1		NC_000003.11:g.169482401T>C	(Likely) pathogenic	1 lab	d9dc55882d
3:120357304 HGD T>C	3	120357304	120357304	T	C	HGD	c.1004A>G	NM_000187.3	NP_000178.2:p.(His335Arg)	NC_000003.11:g.120357304T>C	VUS	1 lab	d9dd198c18
1:237948225 RYR2 C>G	1	237948225	237948225	C	G	RYR2	c.13213C>G	NM_001035.2	NP_001026.2:p.(Leu4405Val)	NC_000001.10:g.237948225C>G	VUS	1 lab	d9dd1d1536
2:166850773 SCN1A C>T	2	166850773	166850773	C	T	SCN1A	c.4735G>A	NM_001165963.1	NP_001159435.1:p.(Val1579Met)	NC_000002.11:g.166850773C>T	VUS	1 lab	d9dde06046
2:227912331 COL4A4 G>A	2	227912331	227912331	G	A	COL4A4	c.3215-66C>T	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227912331G>A	(Likely) benign	1 lab	d9dee5e9cf
16:23647036 PALB2 G>A	16	23647036	23647036	G	A	PALB2	c.831C>T	NM_024675.3	NP_078951.2:p.(Asp277=)	NC_000016.9:g.23647036G>A	(Likely) benign	1 lab	d9df0a82cc
15:42696158 CAPN3 A>T	15	42696158	42696158	A	T	CAPN3	c.1782+183A>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42696158A>T	(Likely) benign	1 lab	15792524b9
17:59543185 TBX4 T>A	17	59543185	59543185	T	A	TBX4	c.287T>A	NM_018488.2	NP_060958.2:p.(Met96Lys)	NC_000017.10:g.59543185T>A	(Likely) pathogenic	1 lab	d9e32c118d
19:42471440 ATP1A3 C>A	19	42471440	42471440	C	A	ATP1A3	c.2974G>T	NM_152296.4	NP_689509.1:p.(Asp992Tyr)	NC_000019.9:g.42471440C>A	(Likely) pathogenic	1 lab	d9e6cebfbc
19:14034591 CC2D1A C>G	19	14034591	14034591	C	G	CC2D1A	c.1907C>G	NM_017721.4	NP_060191.3:p.(Ala636Gly)	NC_000019.9:g.14034591C>G	VUS	1 lab	d9e791a70b
17:29509580 NF1 G>A	17	29509580	29509580	G	A	NF1	c.785G>A	NM_001042492.3	NP_001035957.1:p.(Arg262His)	NC_000017.10:g.29509580G>A	VUS	1 lab	d9e79e6794
X:118971734 UPF3B G>A	X	118971734	118971734	G	A	UPF3B	c.1288C>T	NM_080632.2	NP_542199.1:p.(Arg430Ter)	NC_000023.10:g.118971734G>A	(Likely) pathogenic	1 lab	d9e7bb23ad
13:113772970 F7 G>A	13	113772970	113772970	G	A	F7	c.1049G>A	NM_000131.4	NP_000122.1:p.(Arg350His)	NC_000013.10:g.113772970G>A	(Likely) benign	1 lab	d9e9810d04
1:22408216 CDC42 T>C	1	22408216	22408216	T	C	CDC42	c.107T>C	NM_001039802.1	NP_001034891.1:p.(Val36Ala)	NC_000001.10:g.22408216T>C	VUS	1 lab	d9e984d725
22:51065104 ARSA C>G	22	51065104	51065104	C	G	ARSA	c.769G>C	NM_000487.6	NP_000478.3:p.(Asp257His)	NC_000022.10:g.51065104C>G	(Likely) pathogenic	1 lab	1320b3c57d
10:14968855 DCLRE1C G>C	10	14968855	14968855	G	C	DCLRE1C	c.959C>G	NM_001033855.3	NP_001029027.1:p.(Ser320Cys)	NC_000010.10:g.14968855G>C	(Likely) benign	1 lab	1321141bfb
17:56682428 TEX14 C>T	17	56682428	56682428	C	T	TEX14	c.1265G>A	NM_001201457.1	NP_001188386.1:p.(Trp422Ter)	NC_000017.10:g.56682428C>T	(Likely) pathogenic	1 lab	d9f238e902
1:63119694 DOCK7 C>T	1	63119694	63119694	C	T	DOCK7	c.281G>A	NM_001271999.1	NP_001258928.1:p.(Arg94Gln)	NC_000001.10:g.63119694C>T	(Likely) benign	1 lab	157afea533
22:32270396 DEPDC5 G>A	22	32270396	32270396	G	A	DEPDC5	c.3696+5G>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32270396G>A	(Likely) pathogenic	1 lab	157b0de5f4
19:42489179 ATP1A3 G>A	19	42489179	42489179	G	A	ATP1A3	c.884C>T	NM_152296.4	NP_689509.1:p.(Ser295Phe)	NC_000019.9:g.42489179G>A	VUS	1 lab	d9f8707f2c
5:136964097 KLHL3 C>A	5	136964097	136964097	C	A	KLHL3	c.1480G>T	NM_017415.2	NP_059111.2:p.(Ala494Ser)	NC_000005.9:g.136964097C>A	(Likely) pathogenic	1 lab	da054f54b4
1:116247854 CASQ2 CG>C	1	116247854	116247858	CG	C	CASQ2	c.897del	NM_001232.4	NP_001223.2:p.(Asp300IlefsTer2)	NC_000001.10:g.116247858del	(Likely) pathogenic	1 lab	da060ad63d
14:23885272 MYH7 C>G	14	23885272	23885272	C	G	MYH7	c.4894G>C	NM_000257.3	NP_000248.2:p.(Ala1632Pro)	NC_000014.8:g.23885272C>G	(Likely) pathogenic	1 lab	da0a38bcc6
2:74128433 ACTG2 C>T	2	74128433	74128433	C	T	ACTG2	c.-6C>T	NM_001615.3	NP_001606.1:p.?	NC_000002.11:g.74128433C>T	(Likely) benign	1 lab	da0c3ee6df
17:37821170 PNMT C>T	17	37821170	37821170	C	T	PNMT				NC_000017.10:g.37821170C>T	VUS	1 lab	da0e628733
16:3778484 CREBBP C>A	16	3778484	3778484	C	A	CREBBP	c.6564G>T	NM_004380.3	NP_004371.2:p.(Gln2188His)	NC_000016.9:g.3778484C>A	VUS	1 lab	1326a2a72b
X:53277403 IQSEC2 CT>C	X	53277403	53277404	CT	C	IQSEC2	c.2474del	NM_001111125.3	NP_001104595.1:p.(Glu825GlyfsTer82)	NC_000023.10:g.53277404del	(Likely) pathogenic	1 lab	13279a345e
4:187207644 F11 G>A	4	187207644	187207644	G	A	F11	c.1556G>A	NM_000128.4	NP_000119.1:p.(Trp519Ter)	NC_000004.11:g.187207644G>A	(Likely) pathogenic	1 lab	da1259ba13
19:2109962 AP3D1 G>A	19	2109962	2109962	G	A	AP3D1	c.3265-5C>T	NM_001261826.3	NP_001248755.1:p.?	NC_000019.9:g.2109962G>A	(Likely) benign	1 lab	1329527e9b
1:12443218 VPS13D A>T	1	12443218	12443218	A	T	VPS13D	c.11370+4A>T	NM_015378.4	NP_056193.2:p.?	NC_000001.10:g.12443218A>T	(Likely) benign	1 lab	157c06d0bb
12:6128505 VWF A>G	12	6128505	6128505	A	G	VWF	c.4079T>C	NM_000552.5	NP_000543.3:p.(Val1360Ala)	NC_000012.11:g.6128505A>G	(Likely) pathogenic	1 lab	da1438c7ec
12:6121078 VWF C>T	12	6121078	6121078	C	T	VWF	c.5665-118G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121078C>T	(Likely) benign	1 lab	da43fd64cc
10:104309776 SUFU C>T	10	104309776	104309776	C	T	SUFU	c.367C>T	NM_016169.4	NP_057253.2:p.(Arg123Cys)	NC_000010.10:g.104309776C>T	(Likely) pathogenic	1 lab	da1517af12
3:52406086 DNAH1 T>C	3	52406086	52406086	T	C	DNAH1	c.6650T>C	NM_015512.5	NP_056327.4:p.(Leu2217Pro)	NC_000003.11:g.52406086T>C	VUS	1 lab	da2b8f4e5b
3:121100283 STXBP5L G>A	3	121100283	121100283	G	A	STXBP5L	c.2563G>A	NM_014980.2	NP_055795.1:p.(Val855Ile)	NC_000003.11:g.121100283G>A	(Likely) benign	1 lab	da174894da
1:161487805 FCGR2A T>C	1	161487805	161487805	T	C	FCGR2A	c.821T>C	NM_001136219.3	NP_001129691.1:p.(Leu274Pro)	NC_000001.10:g.161487805T>C	(Likely) benign	1 lab	157c22c366
2:179421976 TTN G>A	2	179421976	179421976	G	A	TTN	c.88009+4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179421976G>A	(Likely) benign	1 lab	da195f015c
15:43170741 TTBK2 A>G	15	43170741	43170741	A	G	TTBK2	c.69+6T>C	NM_173500.3	NP_775771.3:p.?	NC_000015.9:g.43170741A>G	VUS	1 lab	da1a6493ce
19:39076843 RYR1 C>T	19	39076843	39076843	C	T	RYR1	c.14969+12C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39076843C>T	(Likely) benign	1 lab	da1c245206
4:178359918 AGA C>G	4	178359918	178359918	C	G	AGA	c.488G>C	NM_000027.4	NP_000018.2:p.(Cys163Ser)	NC_000004.11:g.178359918C>G	(Likely) pathogenic	1 lab	132a8a4990
5:82815252 VCAN A>C	5	82815252	82815252	A	C	VCAN	c.1127A>C	NM_004385.4	NP_004376.2:p.(Asp376Ala)	NC_000005.9:g.82815252A>C	(Likely) benign	1 lab	da1f158630
3:43607147 ANO10 G>A	3	43607147	43607147	G	A	ANO10	c.1291C>T	NM_018075.3	NP_060545.3:p.(Gln431Ter)	NC_000003.11:g.43607147G>A	(Likely) pathogenic	1 lab	da1f3f356b
8:55539394 RP1 TAATC>T	8	55539394	55539398	TAATC	T	RP1	c.2953_2956del	NM_006269.1	NP_006260.1:p.(Asn985TyrfsTer27)	NC_000008.10:g.55539395_55539398del	(Likely) pathogenic	1 lab	da20614c85
13:20763475 GJB2 G>C	13	20763475	20763475	G	C	GJB2	c.246C>G	NM_004004.5	NP_003995.2:p.(Ile82Met)	NC_000013.10:g.20763475G>C	(Likely) pathogenic	1 lab	da222fc39f
6:7574852 DSP T>C	6	7574852	7574852	T	C	DSP	c.2298-38T>C	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7574852T>C	(Likely) benign	1 lab	da26b5f2c0
5:68728748 MARVELD2 G>C	5	68728748	68728748	G	C	MARVELD2	c.1332-1G>C	NM_001038603.2	NP_001033692.2:p.?	NC_000005.9:g.68728748G>C	(Likely) pathogenic	1 lab	da292283f4
10:104359271 SUFU G>A	10	104359271	104359271	G	A	SUFU	c.992G>A	NM_016169.3	NP_057253.2:p.(Arg331Gln)	NC_000010.10:g.104359271G>A	VUS	1 lab	da29268f40
11:17580175 OTOG A>T	11	17580175	17580175	A	T	OTOG				NC_000011.9:g.17580175A>T	(Likely) benign	1 lab	daaeb2a91e
2:179403702 TTN GA>AG	2	179403702	179403703	GA	AG	TTN	c.98959_98960delinsCT	NM_001267550.2	NP_001254479.2:p.(Ser32987Leu)	NC_000002.11:g.179403702_179403703delinsAG	VUS	1 lab	da29700843
1:103491111 COL11A1 GT>G	1	103491111	103491112	GT	G	COL11A1	c.955del	NM_001854.3	NP_001845.3:p.(Thr319GlnfsTer25)	NC_000001.10:g.103491112del	VUS	1 lab	da2e3a68f9
2:127826533 BIN1 A>G	2	127826533	127826533	A	G	BIN1				NC_000002.11:g.127826533A>G	(Likely) benign	1 lab	da36875fd0
11:121028559 TECTA C>A	11	121028559	121028559	C	A	TECTA				NC_000011.9:g.121028559C>A	VUS	1 lab	da39d65262
19:13323017 CACNA1A C>T	19	13323017	13323017	C	T	CACNA1A	c.6206G>A	NM_001127221.1	NP_001120693.1:p.(Arg2069Gln)	NC_000019.9:g.13323017C>T	VUS	1 lab	da3a4e4102
10:99344668 HOGA1 C>T	10	99344668	99344668	C	T	HOGA1	c.208C>T	NM_138413.3	NP_612422.2:p.(Arg70Ter)	NC_000010.10:g.99344668C>T	(Likely) pathogenic	1 lab	da3ae751a1
15:73614829 HCN4 T>C	15	73614829	73614829	T	C	HCN4	c.3605A>G	NM_005477.2	NP_005468.1:p.(Asn1202Ser)	NC_000015.9:g.73614829T>C	VUS	1 lab	da3aecff06
2:47707975 MSH2 G>T	2	47707975	47707975	G	T	MSH2	c.2599G>T	NM_000251.2	NP_000242.1:p.(Glu867Ter)	NC_000002.11:g.47707975G>T	(Likely) pathogenic	1 lab	da3b972219
11:533328 HRAS C>CGGAGCT	11	533328	533340	C	CGGAGCT	HRAS	c.475_480dup	NM_176795.4	NP_789765.1:p.(Ser159_Ser160dup)	NC_000011.9:g.533335_533340dup	(Likely) benign	1 lab	da3d1b6a87
12:25398284 KRAS C>T	12	25398284	25398284	C	T	KRAS	c.35G>A	NM_004985.3	NP_004976.2:p.(Gly12Asp)	NC_000012.11:g.25398284C>T	(Likely) pathogenic	1 lab	da3ef808b5
19:35530588 SCN1B G>A	19	35530588	35530588	G	A	SCN1B	c.640G>A	NM_001037.5	NP_001028.1:p.(Val214Ile)	NC_000019.9:g.35530588G>A	VUS	1 lab	da3f33fad0
8:134251363 NDRG1 C>A	8	134251363	134251363	C	A	NDRG1	c.944-1G>T	NM_006096.3	NP_006087.2:p.?	NC_000008.10:g.134251363C>A	(Likely) pathogenic	1 lab	da412fc600
X:56590889 UBQLN2 C>A	X	56590889	56590889	C	A	UBQLN2	c.583C>A	NM_013444.3	NP_038472.2:p.(Leu195Ile)	NC_000023.10:g.56590889C>A	VUS	1 lab	da42627350
11:70348900 SHANK2 C>T	11	70348900	70348900	C	T	SHANK2	c.433+1G>A	NM_133266.4	NP_573573.2:p.?	NC_000011.9:g.70348900C>T	(Likely) pathogenic	1 lab	da43b7d86f
16:54319849 IRX3 G>A	16	54319849	54319849	G	A	IRX3	c.114C>T	NM_024336.2	NP_077312.2:p.(Ala38=)	NC_000016.9:g.54319849G>A	(Likely) benign	1 lab	da44b19972
16:81969933 PLCG2 G>A	16	81969933	81969933	G	A	PLCG2	c.3002G>A	NM_002661.4	NP_002652.2:p.(Arg1001His)	NC_000016.9:g.81969933G>A	VUS	1 lab	da46e28eaa
16:56926967 SLC12A3 G>T	16	56926967	56926967	G	T	SLC12A3	c.2548+1G>T	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56926967G>T	(Likely) pathogenic	1 lab	da46e69f97
7:6045519 PMS2 T>C	7	6045519	6045519	T	C	PMS2	c.163+4A>G	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6045519T>C	(Likely) pathogenic	1 lab	da4acc8302
19:35524963 SCN1B C>T	19	35524963	35524963	C	T	SCN1B	c.768C>T	NM_199037.4	NP_950238.1:p.(Pro256=)	NC_000019.9:g.35524963C>T	(Likely) benign	1 lab	da5152632a
3:189608583 TP63 T>C	3	189608583	189608583	T	C	TP63	c.1658T>C	NM_003722.4	NP_003713.3:p.(Leu553Ser)	NC_000003.11:g.189608583T>C	(Likely) pathogenic	1 lab	da520197ca
1:865694 SAMD11 C>T	1	865694	865694	C	T	SAMD11	c.232C>T	NM_152486.3	NP_689699.2:p.(His78Tyr)	NC_000001.10:g.865694C>T	(Likely) benign	1 lab	da5258b145
10:69918315 MYPN C>T	10	69918315	69918315	C	T	MYPN	c.1390C>T	NM_032578.3	NP_115967.2:p.(Pro464Ser)	NC_000010.10:g.69918315C>T	VUS	1 lab	da56a05328
11:31815335 PAX6 G>A	11	31815335	31815335	G	A	PAX6	c.781C>T	NM_000280.4	NP_000271.1:p.(Arg261Ter)	NC_000011.9:g.31815335G>A	(Likely) pathogenic	1 lab	da56a91871
2:179579019 TTN C>T	2	179579019	179579019	C	T	TTN	c.26482G>A	NM_001267550.2	NP_001254479.2:p.(Glu8828Lys)	NC_000002.11:g.179579019C>T	VUS	1 lab	da5a58566f
19:42471050 ATP1A3 G>C	19	42471050	42471050	G	C	ATP1A3				NC_000019.9:g.42471050G>C	(Likely) benign	1 lab	da5ab75550
20:35695423 RBL1 G>A	20	35695423	35695423	G	A	RBL1	c.658C>T	NM_002895.4	NP_002886.2:p.(Gln220Ter)	NC_000020.10:g.35695423G>A	VUS	1 lab	da5ccae563
9:139411793 NOTCH1 T>A	9	139411793	139411793	T	A	NOTCH1	c.1486A>T	NM_017617.4	NP_060087.3:p.(Ser496Cys)	NC_000009.11:g.139411793T>A	VUS	1 lab	da5fb74257
4:187195347 F11 G>T	4	187195347	187195347	G	T	F11	c.403G>T	NM_000128.3	NP_000119.1:p.(Glu135Ter)	NC_000004.11:g.187195347G>T	(Likely) pathogenic	1 lab	da62c86e94
17:6368084 PITPNM3 G>A	17	6368084	6368084	G	A	PITPNM3	c.1898C>T	NM_031220.3	NP_112497.2:p.(Thr633Met)	NC_000017.10:g.6368084G>A	VUS	1 lab	daa0749d9c
7:107559520 DLD A>G	7	107559520	107559520	A	G	DLD	c.1440A>G	NM_000108.5	NP_000099.2:p.(Ile480Met)	NC_000007.13:g.107559520A>G	VUS	1 lab	da6533ea0b
9:742342 KANK1 A>G	9	742342	742342	A	G	KANK1	c.3834A>G	NM_001256877.3	NP_001243806.1:p.(Gly1278=)	NC_000009.11:g.742342A>G	(Likely) benign	1 lab	13c081ee85
16:8995965 USP7 G>A	16	8995965	8995965	G	A	USP7	c.2021C>T	NM_003470.2	NP_003461.2:p.(Ala674Val)	NC_000016.9:g.8995965G>A	(Likely) benign	1 lab	da6c6f6c34
18:43534824 EPG5 T>C	18	43534824	43534824	T	C	EPG5	c.544A>G	NM_020964.2	NP_066015.2:p.(Lys182Glu)	NC_000018.9:g.43534824T>C	(Likely) benign	1 lab	da70afe0ab
13:96438294 DNAJC3 C>T	13	96438294	96438294	C	T	DNAJC3	c.1177C>T	NM_006260.4	NP_006251.1:p.(Arg393Ter)	NC_000013.10:g.96438294C>T	VUS	1 lab	da70c7e945
8:94822025 TMEM67 AT>A	8	94822025	94822026	AT	A	TMEM67	c.2675del	NM_153704.6	NP_714915.3:p.(Met892ArgfsTer5)	NC_000008.10:g.94822026del	(Likely) pathogenic	1 lab	da74612384
17:29654806 NF1 C>A	17	29654806	29654806	C	A	NF1	c.5558C>A	NM_001042492.3	NP_001035957.1:p.(Thr1853Lys)	NC_000017.10:g.29654806C>A	VUS	1 lab	da7511db60
19:56172517 U2AF2 C>T	19	56172517	56172517	C	T	U2AF2				NC_000019.9:g.56172517C>T	VUS	1 lab	da7552e5fa
7:151860073 KMT2C GA>G	7	151860073	151860078	GA	G	KMT2C	c.10588del	NM_170606.2	NP_733751.2:p.(Ser3530LeufsTer3)	NC_000007.13:g.151860078del	(Likely) pathogenic	1 lab	da788d3a78
2:47637263 MSH2 GA>G	2	47637263	47637264	GA	G	MSH2	c.398del	NM_000251.3	NP_000242.1:p.(Asp133AlafsTer41)	NC_000002.11:g.47637264del	(Likely) pathogenic	1 lab	da797e6303
2:179584566 TTN G>A	2	179584566	179584566	G	A	TTN	c.23660-7C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179584566G>A	(Likely) benign	1 lab	da79f4db39
18:21119400 NPC1 C>T	18	21119400	21119400	C	T	NPC1	c.2830G>A	NM_000271.4	NP_000262.2:p.(Asp944Asn)	NC_000018.9:g.21119400C>T	(Likely) pathogenic	1 lab	da7a5ea4b7
3:37038186 MLH1 G>T	3	37038186	37038186	G	T	MLH1				NC_000003.11:g.37038186G>T	VUS	1 lab	daafdbaec8
18:28736130 DSC1 A>G	18	28736130	28736130	A	G	DSC1	c.352-5T>C	NM_004948.3	NP_004939.1:p.?	NC_000018.9:g.28736130A>G	(Likely) benign	1 lab	132f949b27
10:112342306 SMC3 G>GT	10	112342306	112342314	G	GT	SMC3	c.724-6dup	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112342314dup	(Likely) benign	1 lab	1333c6e8ad
7:151265876 PRKAG2 C>T	7	151265876	151265876	C	T	PRKAG2	c.1159G>A	NM_016203.3	NP_057287.2:p.(Val387Ile)	NC_000007.13:g.151265876C>T	VUS	1 lab	da86c44a95
7:6036963 PMS2 A>G	7	6036963	6036963	A	G	PMS2	c.797T>C	NM_000535.7	NP_000526.2:p.(Leu266Pro)	NC_000007.13:g.6036963A>G	(Likely) benign	1 lab	da86db5a08
9:35738114 GBA2 G>A	9	35738114	35738114	G	A	GBA2	c.2233C>T	NM_020944.2	NP_065995.1:p.(Gln745Ter)	NC_000009.11:g.35738114G>A	(Likely) pathogenic	1 lab	da890340fd
5:90070039 ADGRV1 C>T	5	90070039	90070039	C	T	ADGRV1	c.12322C>T	NM_032119.3	NP_115495.3:p.(Gln4108Ter)	NC_000005.9:g.90070039C>T	(Likely) pathogenic	1 lab	da92bca893
18:33736538 ELP2 G>T	18	33736538	33736538	G	T	ELP2	c.1385G>T	NM_018255.4	NP_060725.1:p.(Arg462Leu)	NC_000018.9:g.33736538G>T	(Likely) pathogenic	1 lab	da95cd0f8a
3:129249785 RHO T>A	3	129249785	129249785	T	A	RHO	c.428T>A	NM_000539.3	NP_000530.1:p.(Met143Lys)	NC_000003.11:g.129249785T>A	VUS	1 lab	da982260f5
16:21752099 OTOA A>G	16	21752099	21752099	A	G	OTOA	c.2489A>G	NM_144672.4	NP_653273.3:p.(Asn830Ser)	NC_000016.9:g.21752099A>G	VUS	1 lab	da9a072474
22:36697704 MYH9 G>A	22	36697704	36697704	G	A	MYH9				NC_000022.10:g.36697704G>A	(Likely) pathogenic	1 lab	dac186f4dc
1:247588420 NLRP3 A>G	1	247588420	247588420	A	G	NLRP3	c.1669A>G	NM_001243133.2	NP_001230062.1:p.(Thr557Ala)	NC_000001.10:g.247588420A>G	VUS	1 lab	157f63f480
12:23689427 SOX5 G>A	12	23689427	23689427	G	A	SOX5				NC_000012.11:g.23689427G>A	VUS	1 lab	daa334283d
15:31362352 TRPM1 C>T	15	31362352	31362352	C	T	TRPM1	c.95G>A	NM_002420.5	NP_002411.3:p.(Ser32Asn)	NC_000015.9:g.31362352C>T	(Likely) benign	1 lab	daad760e69
11:108225513 ATM G>A	11	108225513	108225513	G	A	ATM	c.8787-25G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108225513G>A	(Likely) benign	1 lab	daafe606ae
1:215844463 USH2A G>C	1	215844463	215844463	G	C	USH2A	c.13984C>G	NM_206933.2	NP_996816.2:p.(Gln4662Glu)	NC_000001.10:g.215844463G>C	(Likely) benign	1 lab	dab0da476c
11:71906221 FOLR1 T>G	11	71906221	71906221	T	G	FOLR1	c.169-94T>G	NM_016725.3	NP_057937.1:p.?	NC_000011.9:g.71906221T>G	(Likely) benign	1 lab	1580531e6b
12:57584685 LRP1 C>T	12	57584685	57584685	C	T	LRP1	c.7129C>T	NM_002332.2	NP_002323.2:p.(Arg2377Cys)	NC_000012.11:g.57584685C>T	VUS	1 lab	dab36b47d7
7:147815485 CNTNAP2 C>T	7	147815485	147815485	C	T	CNTNAP2	c.2554+105C>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147815485C>T	(Likely) benign	1 lab	15821aec85
2:26453084 HADHA C>G	2	26453084	26453084	C	G	HADHA	c.652G>C	NM_000182.4	NP_000173.2:p.(Val218Leu)	NC_000002.11:g.26453084C>G	VUS	1 lab	dab9afd426
1:216138695 USH2A A>G	1	216138695	216138695	A	G	USH2A	c.7084T>C	NM_206933.2	NP_996816.2:p.(Ser2362Pro)	NC_000001.10:g.216138695A>G	VUS	1 lab	dabef68886
2:47643507 MSH2 C>T	2	47643507	47643507	C	T	MSH2	c.1015C>T	NM_000251.2	NP_000242.1:p.(Gln339Ter)	NC_000002.11:g.47643507C>T	(Likely) pathogenic	1 lab	dac1c532bb
12:56115585 RDH5 C>T	12	56115585	56115585	C	T	RDH5	c.423C>T	NM_002905.3	NP_002896.2:p.(Ile141=)	NC_000012.11:g.56115585C>T	(Likely) benign	1 lab	dac32727a0
9:95481690 BICD2 C>T	9	95481690	95481690	C	T	BICD2	c.1237G>A	NM_001003800.1	NP_001003800.1:p.(Glu413Lys)	NC_000009.11:g.95481690C>T	(Likely) pathogenic	1 lab	dac49233b5
5:1881946 IRX4 C>G	5	1881946	1881946	C	G	IRX4	c.273G>C	NM_016358.2	NP_057442.1:p.(Ser91=)	NC_000005.9:g.1881946C>G	(Likely) benign	1 lab	dac9615ef0
4:77659993 SHROOM3 AT>A	4	77659993	77659994	AT	A	SHROOM3	c.668del	NM_020859.3	NP_065910.3:p.(Met223ArgfsTer48)	NC_000004.11:g.77659994del	VUS	1 lab	dad18e3370
3:120389325 HGD G>A	3	120389325	120389325	G	A	HGD	c.231C>T	NM_000187.4	NP_000178.2:p.(Asp77=)	NC_000003.11:g.120389325G>A	VUS	1 lab	dad2035dfb
3:37035032 MLH1 C>T	3	37035032	37035032	C	T	MLH1	c.-7C>T	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37035032C>T	(Likely) benign	1 lab	dad2826d38
4:122846375 TRPC3 G>A	4	122846375	122846375	G	A	TRPC3	c.988-14C>T	NM_001130698.1	NP_001124170.1:p.?	NC_000004.11:g.122846375G>A	(Likely) benign	1 lab	1587b8c3fb
1:160104289 ATP1A2 G>A	1	160104289	160104289	G	A	ATP1A2	c.1843G>A	NM_000702.4	NP_000693.1:p.(Gly615Arg)	NC_000001.10:g.160104289G>A	(Likely) pathogenic	1 lab	dad535c3cd
12:57961376 KIF5A T>C	12	57961376	57961376	T	C	KIF5A	c.689T>C	NM_004984.4	NP_004975.2:p.(Leu230Pro)	NC_000012.11:g.57961376T>C	VUS	1 lab	dad92a1804
10:73199595 CDH23 C>T	10	73199595	73199595	C	T	CDH23	c.7C>T	NM_022124.5	NP_071407.4:p.(Arg3Cys)	NC_000010.10:g.73199595C>T	(Likely) benign	1 lab	dad986208f
19:11289129 KANK2 G>A	19	11289129	11289129	G	A	KANK2	c.1418-6C>T	NM_001136191.2	NP_001129663.1:p.?	NC_000019.9:g.11289129G>A	(Likely) benign	1 lab	158812e370
1:228399671 OBSCN G>A	1	228399671	228399671	G	A	OBSCN	c.187G>A	NM_001271223.2	NP_001258152.2:p.(Asp63Asn)	NC_000001.10:g.228399671G>A	(Likely) benign	1 lab	dadba3fd2f
6:7581596 DSP C>T	6	7581596	7581596	C	T	DSP	c.5173C>T	NM_004415.4	NP_004406.2:p.(Arg1725Trp)	NC_000006.11:g.7581596C>T	(Likely) benign	1 lab	dadc639bee
7:6022567 PMS2 T>C	7	6022567	6022567	T	C	PMS2	c.2062A>G	NM_000535.6	NP_000526.2:p.(Ile688Val)	NC_000007.13:g.6022567T>C	(Likely) benign	1 lab	dadfd5a965
10:69934238 MYPN T>C	10	69934238	69934238	T	C	MYPN	c.2389T>C	NM_032578.3	NP_115967.2:p.(Phe797Leu)	NC_000010.10:g.69934238T>C	(Likely) benign	1 lab	dae0bb8c77
2:15359095 NBAS G>C	2	15359095	15359095	G	C	NBAS	c.6237-3C>G	NM_015909.3	NP_056993.2:p.?	NC_000002.11:g.15359095G>C	(Likely) pathogenic	1 lab	dae3cbfc54
12:8976426 A2ML1 G>C	12	8976426	8976426	G	C	A2ML1	c.357G>C	NM_144670.4	NP_653271.2:p.(Gly119=)	NC_000012.11:g.8976426G>C	(Likely) benign	1 lab	dae78440f5
1:94461754 ABCA4 A>G	1	94461754	94461754	A	G	ABCA4	c.6730-3T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94461754A>G	(Likely) benign	1 lab	daec56a5c6
3:10128965 FANCD2 CT>C	3	10128965	10128984	CT	C	FANCD2	c.3466+36del	NM_001018115.3	NP_001018125.1:p.?	NC_000003.11:g.10128984del	(Likely) benign	1 lab	158abb77a5
5:36985411 NIPBL G>A	5	36985411	36985411	G	A	NIPBL	c.2129G>A	NM_133433.3	NP_597677.2:p.(Arg710Gln)	NC_000005.9:g.36985411G>A	VUS	1 lab	daf6806cad
12:88480115 CEP290 G>C	12	88480115	88480115	G	C	CEP290	c.4302+53C>G	NM_025114.4	NP_079390.3:p.?	NC_000012.11:g.88480115G>C	(Likely) benign	1 lab	15961a4d98
16:67470040 HSD11B2 C>T	16	67470040	67470040	C	T	HSD11B2	c.659C>T	NM_000196.3	NP_000187.3:p.(Pro220Leu)	NC_000016.9:g.67470040C>T	VUS	1 lab	dafbc728ed
2:131350411 CFC1 C>T	2	131350411	131350411	C	T	CFC1	c.*39G>A	NM_032545.3	NP_115934.1:p.?	NC_000002.11:g.131350411C>T	(Likely) benign	1 lab	dafbdf13be
8:42694498 THAP1 C>T	8	42694498	42694498	C	T	THAP1	c.98G>A	NM_018105.2	NP_060575.1:p.(Cys33Tyr)	NC_000008.10:g.42694498C>T	VUS	1 lab	dafe035842
17:62045670 SCN4A A>G	17	62045670	62045670	A	G	SCN4A	c.749T>C	NM_000334.4	NP_000325.4:p.(Leu250Pro)	NC_000017.10:g.62045670A>G	(Likely) pathogenic	1 lab	db065f5cef
2:179522495 TTN C>T	2	179522495	179522495	C	T	TTN	c.37874-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179522495C>T	VUS	1 lab	db0896c844
9:123280926 CDK5RAP2 A>G	9	123280926	123280926	A	G	CDK5RAP2	c.1093-3T>C	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123280926A>G	(Likely) benign	1 lab	1346046bd2
1:27023295 ARID1A C>T	1	27023295	27023295	C	T	ARID1A	c.401C>T	NM_006015.4	NP_006006.3:p.(Ala134Val)	NC_000001.10:g.27023295C>T	VUS	1 lab	db0b80066d
3:9495492 SETD5 C>T	3	9495492	9495492	C	T	SETD5	c.2416C>T	NM_001080517.3	NP_001073986.1:p.(Gln806Ter)	NC_000003.11:g.9495492C>T	(Likely) pathogenic	1 lab	db0cb92375
14:23884642 MYH7 G>A	14	23884642	23884642	G	A	MYH7	c.5231C>T	NM_000257.4	NP_000248.2:p.(Ala1744Val)	NC_000014.8:g.23884642G>A	VUS	1 lab	db0f35dcad
16:71668634 MISSING T>G	16	71668634	71668634	T	G	MISSING				NC_000016.9:g.71668634T>G	(Likely) benign	1 lab	db0f684a93
6:33139329 COL11A2 G>A	6	33139329	33139329	G	A	COL11A2	c.3173C>T	NM_080680.2	NP_542411.2:p.(Pro1058Leu)	NC_000006.11:g.33139329G>A	VUS	1 lab	db10458bcd
12:80222139 PPP1R12A TA>T	12	80222139	80222143	TA	T	PPP1R12A	c.752del	NM_001143885.1	NP_001137357.1:p.(Leu251Ter)	NC_000012.11:g.80222143del	(Likely) pathogenic	1 lab	db1425bd22
1:45808162 TOE1 A>T	1	45808162	45808162	A	T	TOE1	c.599A>T	NM_025077.3	NP_079353.3:p.(Tyr200Phe)	NC_000001.10:g.45808162A>T	(Likely) pathogenic	1 lab	db152ae2f1
7:91709378 AKAP9 T>C	7	91709378	91709378	T	C	AKAP9	c.7931T>C	NM_005751.4	NP_005742.4:p.(Leu2644Pro)	NC_000007.13:g.91709378T>C	VUS	1 lab	db2d205531
5:112175447 APC A>T	5	112175447	112175447	A	T	APC	c.4156A>T	NM_000038.5	NP_000029.2:p.(Arg1386Ter)	NC_000005.9:g.112175447A>T	(Likely) pathogenic	1 lab	db170ae767
17:79478540 ACTG1 A>G	17	79478540	79478540	A	G	ACTG1				NC_000017.10:g.79478540A>G	VUS	1 lab	db851bc155
7:74197598 NCF1 T>A	7	74197598	74197598	T	A	NCF1	c.574+194T>A	NM_000265.6	NP_000256.4:p.?	NC_000007.13:g.74197598T>A	(Likely) benign	1 lab	134b4fc2bb
14:102471422 DYNC1H1 A>G	14	102471422	102471422	A	G	DYNC1H1	c.5282A>G	NM_001376.5	NP_001367.2:p.(Asn1761Ser)	NC_000014.8:g.102471422A>G	VUS	1 lab	134e9a733d
15:85401085 ALPK3 G>A	15	85401085	85401085	G	A	ALPK3	c.3722G>A	NM_020778.4	NP_065829.3:p.(Arg1241His)	NC_000015.9:g.85401085G>A	(Likely) benign	1 lab	db2027e9ce
1:45796269 MUTYH G>C	1	45796269	45796269	G	C	MUTYH				NC_000001.10:g.45796269G>C	(Likely) benign	1 lab	db202c7b08
X:153580626 FLNA C>G	X	153580626	153580626	C	G	FLNA	c.6692G>C	NM_001110556.1	NP_001104026.1:p.(Gly2231Ala)	NC_000023.10:g.153580626C>G	VUS	1 lab	db273165e3
3:142275237 ATR G>A	3	142275237	142275237	G	A	ATR	c.2066C>T	NM_001184.3	NP_001175.2:p.(Pro689Leu)	NC_000003.11:g.142275237G>A	VUS	1 lab	db27392bc7
20:468212 CSNK2A1 G>A	20	468212	468212	G	A	CSNK2A1	c.832C>T	NM_177559.2	NP_808227.1:p.(Arg278Ter)	NC_000020.10:g.468212G>A	(Likely) pathogenic	1 lab	db275b69d8
7:150647569 KCNH2 T>C	7	150647569	150647569	T	C	KCNH2	c.2146-61A>G	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150647569T>C	(Likely) benign	1 lab	db27820216
6:33141280 COL11A2 G>A	6	33141280	33141280	G	A	COL11A2	c.2681C>T	NM_080680.2	NP_542411.2:p.(Pro894Leu)	NC_000006.11:g.33141280G>A	(Likely) benign	1 lab	db28fab020
3:37061805 MLH1 G>T	3	37061805	37061805	G	T	MLH1	c.889G>T	NM_000249.3	NP_000240.1:p.(Glu297Ter)	NC_000003.11:g.37061805G>T	(Likely) pathogenic	1 lab	db2ad51bad
5:148417934 SH3TC2 T>C	5	148417934	148417934	T	C	SH3TC2	c.925A>G	NM_024577.3	NP_078853.2:p.(Ile309Val)	NC_000005.9:g.148417934T>C	VUS	1 lab	db2ba02c21
3:135979384 PCCB G>A	3	135979384	135979384	G	A	PCCB				NC_000003.11:g.135979384G>A	(Likely) benign	1 lab	db2c2148fc
1:16359650 CLCNKA CA>C	1	16359650	16359652	CA	C	CLCNKA	c.1930-13del	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16359652del	(Likely) benign	1 lab	159708cff4
6:143090734 HIVEP2 T>C	6	143090734	143090734	T	C	HIVEP2	c.5142A>G	NM_006734.4	NP_006725.3:p.(Gly1714=)	NC_000006.11:g.143090734T>C	(Likely) benign	1 lab	1350f93aec
17:72787101 SLC38A12 G>T	17	72787101	72787101	G	T	SLC38A12	c.353G>T	NM_017728.4	NP_060198.3:p.(Arg118Leu)	NC_000017.10:g.72787101G>T	VUS	1 lab	135194d2ec
5:36985885 NIPBL G>A	5	36985885	36985885	G	A	NIPBL	c.2603G>A	NM_133433.3	NP_597677.2:p.(Arg868Gln)	NC_000005.9:g.36985885G>A	VUS	1 lab	db34222e8b
2:231036768 SP110 T>C	2	231036768	231036768	T	C	SP110	c.1815+14A>G	NM_080424.4	NP_536349.3:p.?	NC_000002.11:g.231036768T>C	(Likely) benign	1 lab	135a8baf62
16:16282801 ABCC6 G>C	16	16282801	16282801	G	C	ABCC6	c.1666C>G	NM_001171.5	NP_001162.4:p.(Leu556Val)	NC_000016.9:g.16282801G>C	VUS	1 lab	db3978e2e9
1:151403297 POGZ G>A	1	151403297	151403297	G	A	POGZ	c.304C>T	NM_015100.3	NP_055915.2:p.(Gln102Ter)	NC_000001.10:g.151403297G>A	(Likely) pathogenic	1 lab	db3c580686
20:31023717 ASXL1 C>T	20	31023717	31023717	C	T	ASXL1	c.3202C>T	NM_015338.5	NP_056153.2:p.(Arg1068Ter)	NC_000020.10:g.31023717C>T	(Likely) pathogenic	1 lab	db446b5044
12:6131127 VWF G>A	12	6131127	6131127	G	A	VWF	c.3613C>T	NM_000552.3	NP_000543.2:p.(Arg1205Cys)	NC_000012.11:g.6131127G>A	(Likely) pathogenic	1 lab	db4576d5a7
21:37833307 CLDN14 C>T	21	37833307	37833307	C	T	CLDN14	c.687G>A	NM_144492.2	NP_652763.1:p.(Thr229=)	NC_000021.8:g.37833307C>T	(Likely) benign	1 lab	db4ad3be0a
12:116410042 MED13L C>T	12	116410042	116410042	C	T	MED13L	c.5732-1G>A	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116410042C>T	(Likely) pathogenic	1 lab	db4ea282de
2:47637232 MSH2 G>A	2	47637232	47637232	G	A	MSH2	c.367-1G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47637232G>A	(Likely) pathogenic	1 lab	db532925b5
3:41277225 CTNNB1 G>T	3	41277225	41277225	G	T	CTNNB1	c.1694G>T	NM_001904.3	NP_001895.1:p.(Arg565Leu)	NC_000003.11:g.41277225G>T	VUS	1 lab	db53d1e384
19:38990676 RYR1 C>A	19	38990676	38990676	C	A	RYR1	c.7323+20C>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38990676C>A	(Likely) benign	1 lab	db57a6b3a2
2:166243335 SCN2A A>G	2	166243335	166243335	A	G	SCN2A				NC_000002.11:g.166243335A>G	(Likely) pathogenic	1 lab	db5cde2f3e
11:103006652 DYNC2H1 T>A	11	103006652	103006652	T	A	DYNC2H1	c.2549T>A	NM_001080463.1	NP_001073932.1:p.(Leu850Ter)	NC_000011.9:g.103006652T>A	(Likely) pathogenic	1 lab	db5e6c203e
11:68207385 LRP5 G>A	11	68207385	68207385	G	A	LRP5	c.4488+1G>A	NM_002335.3	NP_002326.2:p.?	NC_000011.9:g.68207385G>A	(Likely) pathogenic	1 lab	db6be091b1
22:23637200 BCR T>C	22	23637200	23637200	T	C	BCR	c.2881-11T>C	NM_004327.4	NP_004318.3:p.?	NC_000022.10:g.23637200T>C	(Likely) benign	1 lab	135d8b0b90
17:26099450 NOS2 G>C	17	26099450	26099450	G	C	NOS2	c.1588C>G	NM_000625.4	NP_000616.3:p.(Arg530Gly)	NC_000017.10:g.26099450G>C	VUS	1 lab	135ecdbf0a
16:67470004 HSD11B2 G>A	16	67470004	67470004	G	A	HSD11B2	c.623G>A	NM_000196.4	NP_000187.3:p.(Arg208His)	NC_000016.9:g.67470004G>A	(Likely) pathogenic	1 lab	db7351f778
5:112174112 APC G>T	5	112174112	112174112	G	T	APC	c.2821G>T	NM_000038.6	NP_000029.2:p.(Glu941Ter)	NC_000005.9:g.112174112G>T	(Likely) pathogenic	1 lab	db74817275
9:109691408 ZNF462 A>T	9	109691408	109691408	A	T	ZNF462	c.5215A>T	NM_021224.6	NP_067047.4:p.(Lys1739Ter)	NC_000009.11:g.109691408A>T	(Likely) pathogenic	1 lab	db77c8ef10
7:140501331 BRAF A>C	7	140501331	140501331	A	C	BRAF	c.741T>G	NM_004333.4	NP_004324.2:p.(Phe247Leu)	NC_000007.13:g.140501331A>C	(Likely) pathogenic	1 lab	db795ec09b
19:853312 ELANE G>A	19	853312	853312	G	A	ELANE	c.275G>A	NM_001972.2	NP_001963.1:p.(Arg92Gln)	NC_000019.9:g.853312G>A	(Likely) benign	1 lab	c4f597ebd6
5:112175651 APC A>T	5	112175651	112175651	A	T	APC	c.4360A>T	NM_000038.6	NP_000029.2:p.(Lys1454Ter)	NC_000005.9:g.112175651A>T	(Likely) pathogenic	1 lab	db7a5ea575
6:7585525 DSP A>G	6	7585525	7585525	A	G	DSP	c.8030A>G	NM_004415.3	NP_004406.2:p.(Gln2677Arg)	NC_000006.11:g.7585525A>G	VUS	1 lab	db7cae1bb8
1:111893918 CIMAP3 G>A	1	111893918	111893918	G	A	CIMAP3	c.545G>A	NM_181643.6	NP_857594.2:p.(Arg182His)	NC_000001.10:g.111893918G>A	VUS	1 lab	136012cb57
12:9013509 A2ML1 G>A	12	9013509	9013509	G	A	A2ML1	c.3297G>A	NM_144670.4	NP_653271.2:p.(Ala1099=)	NC_000012.11:g.9013509G>A	(Likely) benign	1 lab	db7e11866f
6:65532705 EYS A>T	6	65532705	65532705	A	T	EYS	c.3003T>A	NM_001142800.2	NP_001136272.1:p.(Cys1001Ter)	NC_000006.11:g.65532705A>T	(Likely) pathogenic	1 lab	db7ea44e6e
2:228146991 COL4A3 AATATAT>A	2	228146991	228147017	AATATAT	A	COL4A3	c.2489-69_2489-64del	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228147012_228147017del	(Likely) benign	1 lab	159a5d0863
X:107802313 COL4A5 G>A	X	107802313	107802313	G	A	COL4A5	c.161G>A	NM_033380.2	NP_203699.1:p.(Gly54Asp)	NC_000023.10:g.107802313G>A	VUS	1 lab	db819e2fb5
1:247587809 NLRP3 T>C	1	247587809	247587809	T	C	NLRP3	c.1058T>C	NM_001243133.2	NP_001230062.1:p.(Leu353Pro)	NC_000001.10:g.247587809T>C	(Likely) pathogenic	1 lab	159acb4a6a
1:237875075 RYR2 G>C	1	237875075	237875075	G	C	RYR2	c.10261G>C	NM_001035.2	NP_001026.2:p.(Val3421Leu)	NC_000001.10:g.237875075G>C	VUS	1 lab	db83a22692
17:2568747 PAFAH1B1 TGTG>T	17	2568747	2568752	TGTG	T	PAFAH1B1	c.117_117+2del	NM_000430.3	NP_000421.1:p.?	NC_000017.10:g.2568750_2568752del	VUS	1 lab	db840ce7df
22:42609718 TCF20 C>A	22	42609718	42609718	C	A	TCF20	c.1594G>T	NM_001378418.1	NP_001365347.1:p.(Glu532Ter)	NC_000022.10:g.42609718C>A	(Likely) pathogenic	1 lab	db85623924
9:135202896 SETX T>TG	9	135202896	135202897	T	TG	SETX	c.4088_4089insC	NM_015046.5	NP_055861.3:p.(Arg1364LysfsTer4)	NC_000009.11:g.135202896_135202897insG	(Likely) pathogenic	1 lab	db8673587c
3:182759467 MCCC1 T>G	3	182759467	182759467	T	G	MCCC1	c.1155A>C	NM_020166.4	NP_064551.3:p.(Arg385Ser)	NC_000003.11:g.182759467T>G	(Likely) pathogenic	1 lab	db8894c0b4
17:36091677 HNF1B A>C	17	36091677	36091677	A	C	HNF1B	c.954T>G	NM_000458.4	NP_000449.1:p.(Tyr318Ter)	NC_000017.10:g.36091677A>C	(Likely) pathogenic	1 lab	db8a50fe76
2:85780132 GGCX C>T	2	85780132	85780132	C	T	GGCX	c.1217G>A	NM_000821.7	NP_000812.2:p.(Arg406His)	NC_000002.11:g.85780132C>T	VUS	1 lab	13645f37fa
1:228432199 OBSCN G>A	1	228432199	228432199	G	A	OBSCN	c.3684G>A	NM_001271223.2	NP_001258152.2:p.(Ala1228=)	NC_000001.10:g.228432199G>A	(Likely) benign	1 lab	db8affc104
2:228111459 COL4A3 G>T	2	228111459	228111459	G	T	COL4A3	c.441+5G>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228111459G>T	VUS	1 lab	db8d6ab051
4:114067037 ANK2 G>A	4	114067037	114067037	G	A	ANK2	c.85-28535G>A	NM_001148.5	NP_001139.3:p.?	NC_000004.11:g.114067037G>A	(Likely) benign	1 lab	db9176cbc6
11:64503391 RASGRP2 G>A	11	64503391	64503391	G	A	RASGRP2	c.1157C>T	NM_153819.1	NP_722541.1:p.(Pro386Leu)	NC_000011.9:g.64503391G>A	(Likely) pathogenic	1 lab	db91d6d3c2
2:220283603 DES T>G	2	220283603	220283603	T	G	DES	c.419T>G	NM_001927.4	NP_001918.3:p.(Val140Gly)	NC_000002.11:g.220283603T>G	VUS	1 lab	db93f18790
6:157100005 ARID1B CGGAGGAGGAGGAGGCAGCGGAGGAGGA>C	6	157100005	157100046	CGGAGGAGGAGGAGGCAGCGGAGGAGGA	C	ARID1B	c.957_983del	NM_020732.3	NP_065783.3:p.(Ser320_Gly328del)	NC_000006.11:g.157100020_157100046del	VUS	1 lab	db94500ac8
1:43395582 SLC2A1 A>G	1	43395582	43395582	A	G	SLC2A1	c.641T>C	NM_006516.2	NP_006507.2:p.(Leu214Pro)	NC_000001.10:g.43395582A>G	(Likely) pathogenic	1 lab	db9459bfe3
16:20362106 UMOD A>G	16	20362106	20362106	A	G	UMOD	c.-47T>C	NM_003361.2	NP_003352.2:p.?	NC_000016.9:g.20362106A>G	(Likely) benign	1 lab	db97e3c5f5
22:21351254 LZTR1 A>G	22	21351254	21351254	A	G	LZTR1	c.2405A>G	NM_006767.3	NP_006758.2:p.(Lys802Arg)	NC_000022.10:g.21351254A>G	VUS	1 lab	db9cca65c7
16:2815630 SRRM2 G>T	16	2815630	2815630	G	T	SRRM2	c.5101G>T	NM_016333.4	NP_057417.3:p.(Ala1701Ser)	NC_000016.9:g.2815630G>T	VUS	1 lab	1368a20936
7:6018330 PMS2 G>C	7	6018330	6018330	G	C	PMS2	c.2175-3C>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6018330G>C	VUS	1 lab	db9edae289
1:215847960 USH2A AGCTGT>A	1	215847960	215847967	AGCTGT	A	USH2A	c.13288_13292del	NM_206933.2	NP_996816.2:p.(Thr4430Ter)	NC_000001.10:g.215847963_215847967del	(Likely) pathogenic	1 lab	db9f91264a
6:112469455 LAMA4 C>A	6	112469455	112469455	C	A	LAMA4	c.2257G>T	NM_001105206.2	NP_001098676.2:p.(Ala753Ser)	NC_000006.11:g.112469455C>A	(Likely) benign	1 lab	db9fea1ae7
11:76883909 MYO7A C>T	11	76883909	76883909	C	T	MYO7A	c.1913C>T	NM_000260.4	NP_000251.3:p.(Pro638Leu)	NC_000011.9:g.76883909C>T	VUS	1 lab	dba104b396
3:38991881 SCN11A C>G	3	38991881	38991881	C	G	SCN11A	c.-28G>C	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38991881C>G	(Likely) benign	1 lab	dba13be8a0
1:181687199 CACNA1E G>T	1	181687199	181687199	G	T	CACNA1E	c.1534G>T	NM_001205293.3	NP_001192222.1:p.(Glu512Ter)	NC_000001.10:g.181687199G>T	(Likely) pathogenic	1 lab	dba3d69582
4:106861730 NPNT A>G	4	106861730	106861730	A	G	NPNT	c.790A>G	NM_001184691.1	NP_001171620.1:p.(Ile264Val)	NC_000004.11:g.106861730A>G	(Likely) benign	1 lab	dba4b27db0
8:61732609 CHD7 G>A	8	61732609	61732609	G	A	CHD7	c.2657G>A	NM_017780.3	NP_060250.2:p.(Arg886Gln)	NC_000008.10:g.61732609G>A	VUS	1 lab	dba54183cf
6:151738437 RMND1 G>C	6	151738437	151738437	G	C	RMND1	c.1177C>G	NM_017909.2	NP_060379.2:p.(Leu393Val)	NC_000006.11:g.151738437G>C	(Likely) pathogenic	1 lab	dba5d949cc
1:215802301 USH2A C>T	1	215802301	215802301	C	T	USH2A	c.15374G>A	NM_206933.2	NP_996816.2:p.(Arg5125His)	NC_000001.10:g.215802301C>T	VUS	1 lab	dba60eb06f
11:68529072 CPT1A G>A	11	68529072	68529072	G	A	CPT1A	c.1959C>T	NM_001876.3	NP_001867.2:p.(Ile653=)	NC_000011.9:g.68529072G>A	(Likely) benign	1 lab	dba68df1d3
2:215610551 BARD1 G>T	2	215610551	215610551	G	T	BARD1	c.1705C>A	NM_000465.4	NP_000456.2:p.(Pro569Thr)	NC_000002.11:g.215610551G>T	(Likely) benign	1 lab	dba75a628d
12:52200825 SCN8A C>T	12	52200825	52200825	C	T	SCN8A	c.5555C>T	NM_014191.3	NP_055006.1:p.(Thr1852Ile)	NC_000012.11:g.52200825C>T	VUS	1 lab	dba7b52076
9:36246160 GNE G>A	9	36246160	36246160	G	A	GNE	c.484C>T	NM_005476.5	NP_005467.1:p.(Arg162Cys)	NC_000009.11:g.36246160G>A	(Likely) pathogenic	1 lab	dba7bf9745
X:32827640 DMD AT>A	X	32827640	32827642	AT	A	DMD	c.618del	NM_004006.2	NP_003997.1:p.(Gln206HisfsTer2)	NC_000023.10:g.32827642del	(Likely) pathogenic	1 lab	dba8c0000e
13:32936639 BRCA2 A>G	13	32936639	32936639	A	G	BRCA2	c.7806-21A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32936639A>G	(Likely) benign	1 lab	dba958409e
5:1878552 IRX4 G>A	5	1878552	1878552	G	A	IRX4	c.1169C>T	NM_001278635.1	NP_001265564.1:p.(Ala390Val)	NC_000005.9:g.1878552G>A	(Likely) benign	1 lab	dbb188cc50
1:120457985 NOTCH2 C>A	1	120457985	120457985	C	A	NOTCH2	c.7360G>T	NM_024408.4	NP_077719.2:p.(Gly2454Ter)	NC_000001.10:g.120457985C>A	(Likely) pathogenic	1 lab	dbb2868afe
12:110234474 TRPV4 A>T	12	110234474	110234474	A	T	TRPV4	c.1188T>A	NM_021625.4	NP_067638.3:p.(Asp396Glu)	NC_000012.11:g.110234474A>T	VUS	1 lab	dbb2fa343f
3:165547468 BCHE G>A	3	165547468	165547468	G	A	BCHE	c.1354C>T	NM_000055.4	NP_000046.1:p.(Arg452Ter)	NC_000003.11:g.165547468G>A	(Likely) pathogenic	1 lab	dbb8a04260
17:59924480 BRIP1 GT>G	17	59924480	59924483	GT	G	BRIP1	c.608del	NM_032043.3	NP_114432.2:p.(Asn203ThrfsTer71)	NC_000017.10:g.59924483del	(Likely) pathogenic	1 lab	136a94a1da
2:5833158 SOX11 C>T	2	5833158	5833158	C	T	SOX11	c.305C>T	NM_003108.3	NP_003099.1:p.(Ala102Val)	NC_000002.11:g.5833158C>T	VUS	1 lab	dbb9c5877d
5:112175754 APC T>A	5	112175754	112175754	T	A	APC	c.4463T>A	NM_000038.5	NP_000029.2:p.(Leu1488Ter)	NC_000005.9:g.112175754T>A	(Likely) pathogenic	1 lab	dbb9f444d0
9:123725926 C5 T>G	9	123725926	123725926	T	G	C5	c.4311A>C	NM_001735.2	NP_001726.2:p.(Glu1437Asp)	NC_000009.11:g.123725926T>G	(Likely) benign	1 lab	dbbc607654
3:37083754 MLH1 T>A	3	37083754	37083754	T	A	MLH1	c.1668-5T>A	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37083754T>A	(Likely) pathogenic	1 lab	dbbcc7c98c
11:17409453 KCNJ11 C>T	11	17409453	17409453	C	T	KCNJ11	c.186G>A	NM_000525.3	NP_000516.3:p.(Thr62=)	NC_000011.9:g.17409453C>T	(Likely) benign	1 lab	dbbf45359d
16:16286736 ABCC6 C>T	16	16286736	16286736	C	T	ABCC6	c.1382G>A	NM_001171.6	NP_001162.5:p.(Ser461Asn)	NC_000016.9:g.16286736C>T	(Likely) benign	1 lab	dbc1702983
3:38640488 SCN5A C>T	3	38640488	38640488	C	T	SCN5A	c.1944G>A	NM_198056.2	NP_932173.1:p.(Pro648=)	NC_000003.11:g.38640488C>T	(Likely) benign	1 lab	dbc3a06a6f
1:26764705 DHDDS G>A	1	26764705	26764705	G	A	DHDDS	c.110G>A	NM_205861.3	NP_995583.1:p.(Arg37His)	NC_000001.10:g.26764705G>A	(Likely) pathogenic	1 lab	dbc3e22d3e
22:19754369 TBX1 C>T	22	19754369	19754369	C	T	TBX1	c.1467C>T	NM_080647.1	NP_542378.1:p.(Ser489=)	NC_000022.10:g.19754369C>T	(Likely) benign	1 lab	dbc3e7c73c
12:2786509 CACNA1C C>T	12	2786509	2786509	C	T	CACNA1C	c.5100+122C>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2786509C>T	(Likely) benign	1 lab	dbc4ac7422
X:49855325 CLCN5 A>G	X	49855325	49855325	A	G	CLCN5	c.1934-2A>G	NM_000084.4	NP_000075.1:p.?	NC_000023.10:g.49855325A>G	(Likely) pathogenic	1 lab	dbc985b912
X:128602779 SMARCA1 T>C	X	128602779	128602779	T	C	SMARCA1	c.2669A>G	NM_003069.5	NP_003060.2:p.(Lys890Arg)	NC_000023.10:g.128602779T>C	VUS	1 lab	136b39f6dc
16:21771908 OTOA A>G	16	21771908	21771908	A	G	OTOA	c.*47A>G	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21771908A>G	(Likely) benign	1 lab	dffd36ad7f
13:60566644 DIAPH3 T>C	13	60566644	60566644	T	C	DIAPH3	c.1088A>G	NM_001042517.1	NP_001035982.1:p.(Asn363Ser)	NC_000013.10:g.60566644T>C	(Likely) benign	1 lab	dbcf90b620
7:803570 DNAAF5 C>T	7	803570	803570	C	T	DNAAF5	c.1742C>T	NM_017802.4	NP_060272.3:p.(Ser581Leu)	NC_000007.13:g.803570C>T	VUS	1 lab	dbd0a0e410
19:613396 HCN2 GGAA>G	19	613396	613404	GGAA	G	HCN2	c.1739_1741del	NM_001194.3	NP_001185.3:p.(Lys580del)	NC_000019.9:g.613402_613404del	(Likely) benign	1 lab	dbd1b65235
2:48026207 MSH6 C>A	2	48026207	48026207	C	A	MSH6	c.1085C>A	NM_000179.2	NP_000170.1:p.(Pro362His)	NC_000002.11:g.48026207C>A	(Likely) benign	1 lab	dbd3454281
2:233398674 CHRND A>T	2	233398674	233398674	A	T	CHRND	c.1081A>T	NM_000751.3	NP_000742.1:p.(Met361Leu)	NC_000002.11:g.233398674A>T	VUS	1 lab	dbd65fc28b
19:33355069 SLC7A9 A>G	19	33355069	33355069	A	G	SLC7A9	c.411T>C	NM_014270.4	NP_055085.1:p.(Cys137=)	NC_000019.9:g.33355069A>G	(Likely) benign	1 lab	dbd9ce4b3c
16:1250090 CACNA1H A>G	16	1250090	1250090	A	G	CACNA1H	c.804-166A>G	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1250090A>G	(Likely) benign	1 lab	15a0919ae6
X:55748651 RRAGB G>C	X	55748651	55748651	G	C	RRAGB	c.159G>C	NM_016656.3	NP_057740.2:p.(Lys53Asn)	NC_000023.10:g.55748651G>C	VUS	1 lab	dbdd70f9d7
1:196920165 CFHR2 G>A	1	196920165	196920165	G	A	CFHR2	c.430+7G>A	NM_005666.4	NP_005657.1:p.?	NC_000001.10:g.196920165G>A	(Likely) benign	1 lab	15a1fefa54
19:18981172 GDF1 G>A	19	18981172	18981172	G	A	GDF1	c.-56C>T	NM_001492.5	NP_001483.3:p.?	NC_000019.9:g.18981172G>A	VUS	1 lab	dbdf3511c6
1:10434466 KIF1B G>A	1	10434466	10434466	G	A	KIF1B	c.4901G>A	NM_015074.3	NP_055889.2:p.(Arg1634Gln)	NC_000001.10:g.10434466G>A	VUS	1 lab	dbe290ebab
2:179606426 TTN C>T	2	179606426	179606426	C	T	TTN	c.11534G>A	NM_001267550.2	NP_001254479.2:p.(Gly3845Asp)	NC_000002.11:g.179606426C>T	VUS	1 lab	dbe61aa690
16:2129061 TSC2 A>T	16	2129061	2129061	A	T	TSC2	c.2995A>T	NM_000548.5	NP_000539.2:p.(Ser999Cys)	NC_000016.9:g.2129061A>T	VUS	1 lab	136f31568c
1:3342109 PRDM16 G>T	1	3342109	3342109	G	T	PRDM16	c.2940-36G>T	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3342109G>T	(Likely) benign	1 lab	f1760ed317
12:21958997 ABCC9 G>GA	12	21958997	21958998	G	GA	ABCC9	c.4450-4_4450-3insT	NM_005691.3	NP_005682.2:p.?	NC_000012.11:g.21958997_21958998insA	(Likely) benign	1 lab	dbe774da32
14:77769245 POMT2 G>A	14	77769245	77769245	G	A	POMT2	c.589C>T	NM_013382.7	NP_037514.2:p.(Pro197Ser)	NC_000014.8:g.77769245G>A	VUS	1 lab	dbea85b3b4
X:153609423 EMD C>T	X	153609423	153609423	C	T	EMD	c.631C>T	NM_000117.2	NP_000108.1:p.(Arg211Cys)	NC_000023.10:g.153609423C>T	(Likely) benign	1 lab	dbebfc8434
1:22157474 HSPG2 C>A	1	22157474	22157474	C	A	HSPG2	c.11674+1G>T	NM_001291860.1	NP_001278789.1:p.?	NC_000001.10:g.22157474C>A	(Likely) pathogenic	1 lab	dbecb660f5
5:36608563 SLC1A3 G>T	5	36608563	36608563	G	T	SLC1A3	c.38G>T	NM_004172.4	NP_004163.3:p.(Gly13Val)	NC_000005.9:g.36608563G>T	VUS	1 lab	dbecb989ca
2:74590441 DCTN1 G>A	2	74590441	74590441	G	A	DCTN1				NC_000002.11:g.74590441G>A	VUS	1 lab	dbeec7dcdd
5:112175515 APC A>AC	5	112175515	112175517	A	AC	APC	c.4226dup	NM_000038.6	NP_000029.2:p.(Cys1410MetfsTer13)	NC_000005.9:g.112175517dup	(Likely) pathogenic	1 lab	dbefcd0bf6
2:190440053 SLC40A1 T>C	2	190440053	190440053	T	C	SLC40A1	c.112-7A>G	NM_014585.5	NP_055400.1:p.?	NC_000002.11:g.190440053T>C	VUS	1 lab	dbf026a603
1:237837393 RYR2 TAGG>T	1	237837393	237837403	TAGG	T	RYR2	c.8596_8598del	NM_001035.3	NP_001026.2:p.(Gly2866del)	NC_000001.10:g.237837401_237837403del	VUS	1 lab	13759b933e
3:41275201 CTNNB1 A>G	3	41275201	41275201	A	G	CTNNB1	c.1367A>G	NM_001098209.1	NP_001091679.1:p.(Asp456Gly)	NC_000003.11:g.41275201A>G	VUS	1 lab	dbf2871acd
2:84800714 DNAH6 A>T	2	84800714	84800714	A	T	DNAH6	c.1924+3A>T	NM_001370.2	NP_001361.1:p.?	NC_000002.11:g.84800714A>T	VUS	1 lab	1375dded34
X:49067049 CACNA1F C>T	X	49067049	49067049	C	T	CACNA1F	c.4518+1G>A	NM_005183.4	NP_005174.2:p.?	NC_000023.10:g.49067049C>T	(Likely) pathogenic	1 lab	dbf57fd358
7:151573742 PRKAG2 G>T	7	151573742	151573742	G	T	PRKAG2	c.-37C>A	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151573742G>T	VUS	1 lab	dbf5a0efc5
9:14116327 NFIB C>G	9	14116327	14116327	C	G	NFIB	c.1264G>C	NM_001190737.2	NP_001177666.1:p.(Val422Leu)	NC_000009.11:g.14116327C>G	(Likely) benign	1 lab	13781c4dfa
1:215940063 USH2A G>T	1	215940063	215940063	G	T	USH2A	c.11007C>A	NM_206933.4	NP_996816.3:p.(Ser3669Arg)	NC_000001.10:g.215940063G>T	VUS	1 lab	dbf9097184
1:155207932 GBA1 A>C	1	155207932	155207932	A	C	GBA1	c.754T>G	NM_000157.4	NP_000148.2:p.(Phe252Val)	NC_000001.10:g.155207932A>C	VUS	1 lab	dbfb4effb3
3:38945566 SCN11A G>T	3	38945566	38945566	G	T	SCN11A	c.1632C>A	NM_001349253.2	NP_001336182.1:p.(Leu544=)	NC_000003.11:g.38945566G>T	(Likely) benign	1 lab	dbfc858185
14:69445670 ACTN1 T>C	14	69445670	69445670	T	C	ACTN1	c.104A>G	NM_001130004.1	NP_001123476.1:p.(Lys35Arg)	NC_000014.8:g.69445670T>C	VUS	1 lab	dc0962ab57
9:77378051 TRPM6 C>T	9	77378051	77378051	C	T	TRPM6	c.3537-1G>A	NM_017662.4	NP_060132.3:p.?	NC_000009.11:g.77378051C>T	(Likely) pathogenic	1 lab	dc0ab8670e
12:6219682 VWF G>A	12	6219682	6219682	G	A	VWF	c.390C>T	NM_000552.3	NP_000543.2:p.(Ser130=)	NC_000012.11:g.6219682G>A	(Likely) benign	1 lab	dc0b1609fb
6:143074596 HIVEP2 G>T	6	143074596	143074596	G	T	HIVEP2	c.6989C>A	NM_006734.3	NP_006725.3:p.(Thr2330Lys)	NC_000006.11:g.143074596G>T	(Likely) benign	1 lab	dc0c5a09d7
4:187112682 CYP4V2 A>C	4	187112682	187112682	A	C	CYP4V2	c.-296A>C	NM_207352.3	NP_997235.3:p.?	NC_000004.11:g.187112682A>C	(Likely) benign	1 lab	dc10ed894c
4:151835364 LRBA A>G	4	151835364	151835364	A	G	LRBA				NC_000004.11:g.151835364A>G	(Likely) benign	1 lab	dc14395900
2:179416429 TTN A>T	2	179416429	179416429	A	T	TTN	c.91198T>A	NM_001267550.2	NP_001254479.2:p.(Tyr30400Asn)	NC_000002.11:g.179416429A>T	(Likely) benign	1 lab	dc15a47950
20:52774674 CYP24A1 C>T	20	52774674	52774674	C	T	CYP24A1	c.1187G>A	NM_000782.4	NP_000773.2:p.(Arg396Gln)	NC_000020.10:g.52774674C>T	VUS	1 lab	dc16117a65
2:179424422 TTN C>T	2	179424422	179424422	C	T	TTN	c.86437G>A	NM_001267550.2	NP_001254479.2:p.(Glu28813Lys)	NC_000002.11:g.179424422C>T	VUS	1 lab	dc18262bbd
5:68840908 OCLN C>T	5	68840908	68840908	C	T	OCLN	c.1215C>T	NM_002538.3	NP_002529.1:p.(Gly405=)	NC_000005.9:g.68840908C>T	(Likely) benign	1 lab	dc19853dbf
3:30713790 TGFBR2 A>G	3	30713790	30713790	A	G	TGFBR2	c.1115A>G	NM_003242.6	NP_003233.4:p.(Lys372Arg)	NC_000003.11:g.30713790A>G	VUS	1 lab	dc1bca40db
X:152991080 ABCD1 G>A	X	152991080	152991080	G	A	ABCD1	c.359G>A	NM_000033.3	NP_000024.2:p.(Arg120His)	NC_000023.10:g.152991080G>A	VUS	1 lab	dc1d6ee1f2
2:71817364 DYSF T>C	2	71817364	71817364	T	C	DYSF	c.3466T>C	NM_003494.4	NP_003485.1:p.(Cys1156Arg)	NC_000002.11:g.71817364T>C	VUS	1 lab	dc2088d97f
12:46125094 ARID2 T>TG	12	46125094	46125095	T	TG	ARID2	c.282dup	NM_152641.3	NP_689854.2:p.(Arg95AlafsTer16)	NC_000012.11:g.46125095dup	(Likely) pathogenic	1 lab	dc21263840
9:14817068 FREM1 C>T	9	14817068	14817068	C	T	FREM1	c.2547-199G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14817068C>T	(Likely) benign	1 lab	16bc1dd03e
16:90002087 TUBB3 G>A	16	90002087	90002087	G	A	TUBB3	c.1228G>A	NM_006086.3	NP_006077.2:p.(Glu410Lys)	NC_000016.9:g.90002087G>A	(Likely) pathogenic	1 lab	dc2368a4e4
12:57548458 LRP1 C>T	12	57548458	57548458	C	T	LRP1	c.1201C>T	NM_002332.2	NP_002323.2:p.(Arg401Cys)	NC_000012.11:g.57548458C>T	VUS	1 lab	dc263cc481
5:140957876 DIAPH1 A>T	5	140957876	140957876	A	T	DIAPH1	c.1079T>A	NM_005219.4	NP_005210.3:p.(Val360Glu)	NC_000005.9:g.140957876A>T	VUS	1 lab	dc26b5ccee
17:73761136 GALK1 G>T	17	73761136	73761136	G	T	GALK1	c.82C>A	NM_000154.2	NP_000145.1:p.(Pro28Thr)	NC_000017.10:g.73761136G>T	(Likely) pathogenic	1 lab	dc282a3b45
19:36340237 NPHS1 C>A	19	36340237	36340237	C	A	NPHS1	c.741G>T	NM_004646.3	NP_004637.1:p.(Trp247Cys)	NC_000019.9:g.36340237C>A	(Likely) pathogenic	1 lab	dc2aa2163a
1:45798457 MUTYH C>T	1	45798457	45798457	C	T	MUTYH	c.554G>A	NM_001128425.1	NP_001121897.1:p.(Arg185Gln)	NC_000001.10:g.45798457C>T	(Likely) pathogenic	1 lab	dc2bb258a1
17:56769985 RAD51C G>A	17	56769985	56769985	G	A	RAD51C	c.-20G>A	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56769985G>A	(Likely) benign	1 lab	dc2c021d0e
2:179517380 TTN C>T	2	179517380	179517380	C	T	TTN	c.39043G>A	NM_001267550.2	NP_001254479.2:p.(Val13015Met)	NC_000002.11:g.179517380C>T	(Likely) benign	1 lab	dc2ef4e818
16:21763399 OTOA G>A	16	21763399	21763399	G	A	OTOA	c.2918+1G>A	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21763399G>A	(Likely) pathogenic	1 lab	dc3c12b362
17:4841381 SLC25A11 G>A	17	4841381	4841381	G	A	SLC25A11	c.738-12C>T	NM_003562.5	NP_003553.2:p.?	NC_000017.10:g.4841381G>A	(Likely) benign	1 lab	dc40320c25
2:48033720 MSH6 GA>G	2	48033720	48033722	GA	G	MSH6	c.3933del	NM_000179.2	NP_000170.1:p.(Val1312LeufsTer15)	NC_000002.11:g.48033722del	(Likely) pathogenic	1 lab	dc47586606
11:61735105 FTH1 G>A	11	61735105	61735105	G	A	FTH1	c.-208C>T	NM_002032.2	NP_002023.2:p.?	NC_000011.9:g.61735105G>A	VUS	1 lab	dc47e49aec
5:45695690 HCN1 G>A	5	45695690	45695690	G	A	HCN1	c.425+81C>T	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45695690G>A	(Likely) benign	1 lab	35302c88aa
6:51915054 PKHD1 T>C	6	51915054	51915054	T	C	PKHD1	c.2180A>G	NM_138694.3	NP_619639.3:p.(Asn727Ser)	NC_000006.11:g.51915054T>C	(Likely) pathogenic	1 lab	dc49baea86
4:1807053 FGFR3 A>G	4	1807053	1807053	A	G	FGFR3	c.1413-29A>G	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1807053A>G	(Likely) benign	1 lab	dc4a81cfc0
1:12476867 VPS13D A>T	1	12476867	12476867	A	T	VPS13D	c.12320A>T	NM_015378.3	NP_056193.2:p.(Asn4107Ile)	NC_000001.10:g.12476867A>T	VUS	1 lab	dc4c856f49
1:207930421 CD46 T>A	1	207930421	207930421	T	A	CD46				NC_000001.10:g.207930421T>A	VUS	1 lab	dc52873380
11:118380662 KMT2A G>T	11	118380662	118380662	G	T	KMT2A	c.10901-1G>T	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118380662G>T	(Likely) pathogenic	1 lab	dc5646ea51
X:153589681 FLNA T>C	X	153589681	153589681	T	C	FLNA	c.3202A>G	NM_001456.3	NP_001447.2:p.(Ser1068Gly)	NC_000023.10:g.153589681T>C	VUS	1 lab	dc5d701764
16:74808521 FA2H C>T	16	74808521	74808521	C	T	FA2H	c.133G>A	NM_024306.4	NP_077282.3:p.(Gly45Arg)	NC_000016.9:g.74808521C>T	VUS	1 lab	dc5de75edc
12:6125944 VWF C>G	12	6125944	6125944	C	G	VWF	c.5146G>C	NM_000552.3	NP_000543.2:p.(Ala1716Pro)	NC_000012.11:g.6125944C>G	(Likely) pathogenic	1 lab	dc62b797a5
14:64445571 SYNE2 A>C	14	64445571	64445571	A	C	SYNE2	c.1408A>C	NM_182914.2	NP_878918.2:p.(Ile470Leu)	NC_000014.8:g.64445571A>C	(Likely) benign	1 lab	dc639bca72
1:228503677 OBSCN A>G	1	228503677	228503677	A	G	OBSCN	c.13142A>G	NM_001098623.2	NP_001092093.2:p.(His4381Arg)	NC_000001.10:g.228503677A>G	(Likely) benign	1 lab	dc6a793180
13:32914082 BRCA2 G>A	13	32914082	32914082	G	A	BRCA2	c.5590G>A	NM_000059.4	NP_000050.3:p.(Asp1864Asn)	NC_000013.10:g.32914082G>A	(Likely) benign	1 lab	dc6c09523d
8:38273522 FGFR1 G>A	8	38273522	38273522	G	A	FGFR1	c.1720C>T	NM_023110.2	NP_075598.2:p.(Gln574Ter)	NC_000008.10:g.38273522G>A	(Likely) pathogenic	1 lab	dc6c905ed0
3:8787189 CAV3 G>C	3	8787189	8787189	G	C	CAV3	c.115-23G>C	NM_001234.4	NP_001225.1:p.?	NC_000003.11:g.8787189G>C	(Likely) benign	1 lab	dc6def4729
8:41836257 KAT6A CT>C	8	41836257	41836263	CT	C	KAT6A	c.945del	NM_006766.5	NP_006757.2:p.(Gly316AspfsTer12)	NC_000008.10:g.41836263del	(Likely) pathogenic	1 lab	dc7104bda9
6:116441271 COL10A1 A>C	6	116441271	116441271	A	C	COL10A1	c.2008T>G	NM_000493.4	NP_000484.2:p.(Ser670Ala)	NC_000006.11:g.116441271A>C	(Likely) benign	1 lab	dc7205fc4e
18:55317591 ATP8B1 C>A	18	55317591	55317591	C	A	ATP8B1	c.3531+8G>T	NM_005603.4	NP_005594.1:p.?	NC_000018.9:g.55317591C>A	(Likely) benign	1 lab	dc73adae39
1:237948105 RYR2 G>A	1	237948105	237948105	G	A	RYR2	c.13093G>A	NM_001035.2	NP_001026.2:p.(Asp4365Asn)	NC_000001.10:g.237948105G>A	(Likely) benign	1 lab	dc77e68bc8
14:29237663 FOXG1 C>T	14	29237663	29237663	C	T	FOXG1	c.1178C>T	NM_005249.5	NP_005240.3:p.(Ser393Leu)	NC_000014.8:g.29237663C>T	(Likely) pathogenic	1 lab	dc78ffef83
9:130415941 STXBP1 C>T	9	130415941	130415941	C	T	STXBP1	c.46-53C>T	NM_001374308.2	NP_001361237.1:p.?	NC_000009.11:g.130415941C>T	(Likely) benign	1 lab	15a68d99df
19:17717120 UNC13A C>T	19	17717120	17717120	C	T	UNC13A	c.4855G>A	NM_001080421.3	NP_001073890.2:p.(Val1619Met)	NC_000019.9:g.17717120C>T	VUS	1 lab	137d0f5013
10:73501649 CDH23 G>A	10	73501649	73501649	G	A	CDH23	c.4816G>A	NM_022124.5	NP_071407.4:p.(Val1606Met)	NC_000010.10:g.73501649G>A	VUS	1 lab	dc7d3126c4
20:42744333 JPH2 G>A	20	42744333	42744333	G	A	JPH2	c.1982C>T	NM_020433.4	NP_065166.2:p.(Ala661Val)	NC_000020.10:g.42744333G>A	(Likely) benign	1 lab	dc81a1a964
X:18602433 CDKL5 G>T	X	18602433	18602433	G	T	CDKL5	c.514G>T	NM_001037343.1	NP_001032420.1:p.(Val172Phe)	NC_000023.10:g.18602433G>T	(Likely) pathogenic	1 lab	15a77bd688
17:10432880 MYH2 C>T	17	10432880	10432880	C	T	MYH2	c.3117+1G>A	NM_017534.6	NP_060004.3:p.?	NC_000017.10:g.10432880C>T	(Likely) pathogenic	1 lab	dc87523395
2:238249251 COL6A3 C>T	2	238249251	238249251	C	T	COL6A3	c.8308G>A	NM_004369.3	NP_004360.2:p.(Val2770Met)	NC_000002.11:g.238249251C>T	VUS	1 lab	dc87959239
2:15319112 NBAS C>T	2	15319112	15319112	C	T	NBAS	c.6840G>A	NM_015909.3	NP_056993.2:p.(Thr2280=)	NC_000002.11:g.15319112C>T	(Likely) pathogenic	1 lab	dc8bc552f5
15:31775766 OTUD7A CCGCGCCCGGTAGGGCCCCGGGCACCGCG>C	15	31775766	31775800	CCGCGCCCGGTAGGGCCCCGGGCACCGCG	C	OTUD7A	c.2505_2532del	NM_001382637.1	NP_001369566.1:p.(Ala836ArgfsTer142)	NC_000015.9:g.31775773_31775800del	(Likely) pathogenic	1 lab	dc8c566792
X:153696467 PLXNA3 A>G	X	153696467	153696467	A	G	PLXNA3	c.3863A>G	NM_017514.4	NP_059984.3:p.(His1288Arg)	NC_000023.10:g.153696467A>G	(Likely) benign	1 lab	dc8c77e9c8
17:73208176 NUP85 T>C	17	73208176	73208176	T	C	NUP85	c.361+19T>C	NM_024844.5	NP_079120.1:p.?	NC_000017.10:g.73208176T>C	(Likely) benign	1 lab	15ad8d28e6
12:57966495 KIF5A G>A	12	57966495	57966495	G	A	KIF5A	c.1702G>A	NM_004984.3	NP_004975.2:p.(Gly568Arg)	NC_000012.11:g.57966495G>A	VUS	1 lab	dc91bc6500
2:27672571 IFT172 C>T	2	27672571	27672571	C	T	IFT172	c.4147G>A	NM_015662.2	NP_056477.1:p.(Glu1383Lys)	NC_000002.11:g.27672571C>T	VUS	1 lab	dc92a239bc
10:75634159 CAMK2G C>G	10	75634159	75634159	C	G	CAMK2G	c.61G>C	NM_172171.3	NP_751911.1:p.(Gly21Arg)	NC_000010.10:g.75634159C>G	VUS	1 lab	137d9ec07f
13:32915328 BRCA2 T>G	13	32915328	32915328	T	G	BRCA2	c.6836T>G	NM_000059.4	NP_000050.3:p.(Leu2279Ter)	NC_000013.10:g.32915328T>G	(Likely) pathogenic	1 lab	dc9b91de55
10:67680275 CTNNA3 C>A	10	67680275	67680275	C	A	CTNNA3	c.2501G>T	NM_013266.3	NP_037398.2:p.(Arg834Leu)	NC_000010.10:g.67680275C>A	(Likely) benign	1 lab	dca1f91da5
5:112155003 APC A>T	5	112155003	112155003	A	T	APC	c.1274A>T	NM_000038.5	NP_000029.2:p.(Glu425Val)	NC_000005.9:g.112155003A>T	VUS	1 lab	dca4609b5b
21:46897722 COL18A1 G>GC	21	46897722	46897728	G	GC	COL18A1	c.1070dup	NM_001379500.1	NP_001366429.1:p.(Gly358ArgfsTer55)	NC_000021.8:g.46897728dup	(Likely) pathogenic	1 lab	137faea5fd
14:105174901 INF2 C>T	14	105174901	105174901	C	T	INF2	c.1864C>T	NM_022489.3	NP_071934.3:p.(Arg622Trp)	NC_000014.8:g.105174901C>T	(Likely) benign	1 lab	15b210bd1b
17:29661980 NF1 A>G	17	29661980	29661980	A	G	NF1	c.5937A>G	NM_001042492.3	NP_001035957.1:p.(Ile1979Met)	NC_000017.10:g.29661980A>G	VUS	1 lab	dca6c60e77
6:26092985 HFE A>G	6	26092985	26092985	A	G	HFE	c.689A>G	NM_000410.3	NP_000401.1:p.(Tyr230Cys)	NC_000006.11:g.26092985A>G	VUS	1 lab	dca72a461a
X:66931490 AR G>C	X	66931490	66931490	G	C	AR	c.2132G>C	NM_000044.4	NP_000035.2:p.(Arg711Thr)	NC_000023.10:g.66931490G>C	(Likely) pathogenic	1 lab	dca81a8fb5
X:53578038 MISSING C>T	X	53578038	53578038	C	T	MISSING				NC_000023.10:g.53578038C>T	(Likely) pathogenic	1 lab	dcaa84f5d8
11:94861590 ENDOD1 C>T	11	94861590	94861590	C	T	ENDOD1	c.350C>T	NM_015036.2	NP_055851.1:p.(Ala117Val)	NC_000011.9:g.94861590C>T	VUS	1 lab	dcad2bf0ab
6:33144526 COL11A2 TC>T	6	33144526	33144528	TC	T	COL11A2	c.2086del	NM_080680.3	NP_542411.2:p.(Glu696LysfsTer19)	NC_000006.11:g.33144528del	(Likely) pathogenic	1 lab	1383031e2e
1:3328470 PRDM16 C>T	1	3328470	3328470	C	T	PRDM16	c.1709C>T	NM_022114.4	NP_071397.3:p.(Thr570Met)	NC_000001.10:g.3328470C>T	(Likely) benign	1 lab	138516ba39
17:42989089 GFAP C>T	17	42989089	42989089	C	T	GFAP	c.857G>A	NM_002055.5	NP_002046.1:p.(Arg286Gln)	NC_000017.10:g.42989089C>T	VUS	1 lab	dcb4d07493
2:47702203 MSH2 C>T	2	47702203	47702203	C	T	MSH2	c.1799C>T	NM_000251.2	NP_000242.1:p.(Ala600Val)	NC_000002.11:g.47702203C>T	VUS	1 lab	dcb614dca4
2:33534558 LTBP1 C>CT	2	33534558	33534559	C	CT	LTBP1	c.3540dup	NM_206943.2	NP_996826.2:p.(Ala1181CysfsTer5)	NC_000002.11:g.33534559dup	VUS	1 lab	dcb8b49fd6
10:73466708 CDH23 C>CCGTGTACAA	10	73466708	73466709	C	CCGTGTACAA	CDH23	c.3008_3009insCGTGTACAA	NM_022124.5	NP_071407.4:p.(Val1004_Ser1005insTyrAsnVal)	NC_000010.10:g.73466708_73466709insCGTGTACAA	VUS	1 lab	dcb9ec9576
5:112175604 APC C>G	5	112175604	112175604	C	G	APC	c.4313C>G	NM_000038.5	NP_000029.2:p.(Thr1438Arg)	NC_000005.9:g.112175604C>G	VUS	1 lab	dcbbe2727c
19:13366074 CACNA1A C>T	19	13366074	13366074	C	T	CACNA1A	c.4591-1G>A	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13366074C>T	(Likely) pathogenic	1 lab	dcbc658869
X:107911598 COL4A5 TC>T	X	107911598	107911600	TC	T	COL4A5	c.3656del	NM_033380.2	NP_203699.1:p.(Pro1219GlnfsTer86)	NC_000023.10:g.107911600del	(Likely) pathogenic	1 lab	dcbdf0fe57
7:6042083 PMS2 C>T	7	6042083	6042083	C	T	PMS2	c.537+1G>A	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6042083C>T	(Likely) pathogenic	1 lab	dcbe69e340
X:153172067 AVPR2 C>CA	X	153172067	153172068	C	CA	AVPR2	c.1002dup	NM_000054.4	NP_000045.1:p.(Glu335ArgfsTer22)	NC_000023.10:g.153172068dup	(Likely) pathogenic	1 lab	dcc19862dc
6:79726304 PHIP C>A	6	79726304	79726304	C	A	PHIP	c.1192G>T	NM_017934.6	NP_060404.4:p.(Glu398Ter)	NC_000006.11:g.79726304C>A	(Likely) pathogenic	1 lab	dcc1bf6780
17:61466856 MISSING CA>C	17	61466856	61466857	CA	C	MISSING				NC_000017.10:g.61466857del	(Likely) pathogenic	1 lab	dcc2b259c1
11:118348810 KMT2A T>C	11	118348810	118348810	T	C	KMT2A	c.3463T>C	NM_001197104.1	NP_001184033.1:p.(Cys1155Arg)	NC_000011.9:g.118348810T>C	(Likely) pathogenic	1 lab	dcc51a0cd7
12:6128438 VWF C>A	12	6128438	6128438	C	A	VWF	c.4146G>T	NM_000552.3	NP_000543.2:p.(Leu1382=)	NC_000012.11:g.6128438C>A	(Likely) benign	1 lab	dcc7788b1f
11:118038916 SCN2B G>A	11	118038916	118038916	G	A	SCN2B	c.332C>T	NM_004588.5	NP_004579.1:p.(Ser111Leu)	NC_000011.9:g.118038916G>A	VUS	1 lab	dcc78e7d05
2:74593127 DCTN1 G>A	2	74593127	74593127	G	A	DCTN1	c.2779C>T	NM_004082.4	NP_004073.2:p.(Arg927Trp)	NC_000002.11:g.74593127G>A	VUS	1 lab	dcc9fabe0e
X:38535025 TSPAN7 A>AT	X	38535025	38535026	A	AT	TSPAN7	c.509dup	NM_004615.4	NP_004606.2:p.(Ser173GlnfsTer8)	NC_000023.10:g.38535026dup	(Likely) pathogenic	1 lab	dccb8f5244
X:85212982 CHM T>C	X	85212982	85212982	T	C	CHM	c.820-2A>G	NM_000390.2	NP_000381.1:p.?	NC_000023.10:g.85212982T>C	(Likely) pathogenic	1 lab	dccbe7761f
8:72127745 EYA1 T>C	8	72127745	72127745	T	C	EYA1	c.1476-2A>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72127745T>C	(Likely) pathogenic	1 lab	dccf6ce7ff
15:43905270 STRC C>A	15	43905270	43905270	C	A	STRC	c.2640G>T	NM_153700.2	NP_714544.1:p.(Glu880Asp)	NC_000015.9:g.43905270C>A	VUS	1 lab	dcd0aee9ef
2:29295866 PCARE T>C	2	29295866	29295866	T	C	PCARE	c.1262A>G	NM_001029883.2	NP_001025054.1:p.(Lys421Arg)	NC_000002.11:g.29295866T>C	(Likely) benign	1 lab	dcd3967e49
2:152355897 NEB T>TACAAC	2	152355897	152355904	T	TACAAC	NEB	c.24024_24028dup	NM_001164507.1	NP_001157979.1:p.(Tyr8010CysfsTer137)	NC_000002.11:g.152355900_152355904dup	(Likely) pathogenic	1 lab	dcd3ab46ac
6:132206095 ENPP1 C>A	6	132206095	132206095	C	A	ENPP1	c.2336C>A	NM_006208.3	NP_006199.2:p.(Thr779Asn)	NC_000006.11:g.132206095C>A	(Likely) benign	1 lab	15b35a83ab
2:230668911 TRIP12 G>A	2	230668911	230668911	G	A	TRIP12	c.2686C>T	NM_001348330.2	NP_001335259.1:p.(Arg896Ter)	NC_000002.11:g.230668911G>A	(Likely) pathogenic	1 lab	dcd95ba415
17:59557600 TBX4 C>T	17	59557600	59557600	C	T	TBX4	c.941C>T	NM_018488.2	NP_060958.2:p.(Ala314Val)	NC_000017.10:g.59557600C>T	(Likely) benign	1 lab	dcdd6e07b7
8:42698231 THAP1 G>A	8	42698231	42698231	G	A	THAP1	c.7C>T	NM_018105.2	NP_060575.1:p.(Gln3Ter)	NC_000008.10:g.42698231G>A	(Likely) pathogenic	1 lab	dce02564c4
2:197750149 PGAP1 T>C	2	197750149	197750149	T	C	PGAP1	c.1271A>G	NM_024989.3	NP_079265.2:p.(Lys424Arg)	NC_000002.11:g.197750149T>C	(Likely) pathogenic	1 lab	dce14413d4
7:24756895 GSDME G>C	7	24756895	24756895	G	C	GSDME				NC_000007.13:g.24756895G>C	(Likely) pathogenic	1 lab	dce65419cf
11:119158617 CBL C>T	11	119158617	119158617	C	T	CBL				NC_000011.9:g.119158617C>T	VUS	1 lab	dce880a98a
1:94522153 ABCA4 T>C	1	94522153	94522153	T	C	ABCA4	c.2382+4A>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94522153T>C	(Likely) pathogenic	1 lab	dceadfe595
6:32008862 TNXB G>T	6	32008862	32008862	G	T	TNXB				NC_000006.11:g.32008862G>T	(Likely) benign	1 lab	dcec85ee8e
5:149748349 TCOF1 A>G	5	149748349	149748349	A	G	TCOF1	c.449A>G	NM_001135243.1	NP_001128715.1:p.(Asn150Ser)	NC_000005.9:g.149748349A>G	(Likely) benign	1 lab	dcec94b3c0
16:28943909 CD19 T>C	16	28943909	28943909	T	C	CD19	c.331T>C	NM_001770.6	NP_001761.3:p.(Trp111Arg)	NC_000016.9:g.28943909T>C	VUS	1 lab	138e735564
X:18622941 CDKL5 C>T	X	18622941	18622941	C	T	CDKL5	c.1897C>T	NM_003159.2	NP_003150.1:p.(Gln633Ter)	NC_000023.10:g.18622941C>T	(Likely) pathogenic	1 lab	dcf13a2733
10:68138995 CTNNA3 G>T	10	68138995	68138995	G	T	CTNNA3	c.1647C>A	NM_013266.3	NP_037398.2:p.(His549Gln)	NC_000010.10:g.68138995G>T	VUS	1 lab	dcf1a2585b
7:151478271 PRKAG2 C>T	7	151478271	151478271	C	T	PRKAG2	c.433G>A	NM_016203.4	NP_057287.2:p.(Gly145Arg)	NC_000007.13:g.151478271C>T	VUS	1 lab	138ee1cdd7
1:27106617 ARID1A C>A	1	27106617	27106617	C	A	ARID1A	c.6228C>A	NM_006015.6	NP_006006.3:p.(Tyr2076Ter)	NC_000001.10:g.27106617C>A	(Likely) pathogenic	1 lab	dcf63e9884
1:171083149 FMO3 T>C	1	171083149	171083149	T	C	FMO3	c.830T>C	NM_001002294.2	NP_001002294.1:p.(Val277Ala)	NC_000001.10:g.171083149T>C	(Likely) benign	1 lab	dcf86abb0a
6:76731833 IMPG1 TG>T	6	76731833	76731834	TG	T	IMPG1	c.665del	NM_001563.3	NP_001554.2:p.(Thr222LysfsTer22)	NC_000006.11:g.76731834del	(Likely) pathogenic	1 lab	dcfe95d4bd
X:100656624 GLA T>C	X	100656624	100656624	T	C	GLA	c.543A>G	NM_000169.2	NP_000160.1:p.(Ala181=)	NC_000023.10:g.100656624T>C	VUS	1 lab	dcfec4eb37
16:23632778 PALB2 C>A	16	23632778	23632778	C	A	PALB2	c.3018G>T	NM_024675.4	NP_078951.2:p.(Leu1006Phe)	NC_000016.9:g.23632778C>A	(Likely) benign	1 lab	138f511908
6:32937212 BRD2 A>T	6	32937212	32937212	A	T	BRD2	c.-1305+379A>T	NM_005104.4	NP_005095.1:p.?	NC_000006.11:g.32937212A>T	(Likely) benign	1 lab	15b44a08b9
16:1545523 TELO2 T>A	16	1545523	1545523	T	A	TELO2	c.512T>A	NM_016111.4	NP_057195.2:p.(Leu171Gln)	NC_000016.9:g.1545523T>A	VUS	1 lab	dd02b70b2d
11:121039491 TECTA G>A	11	121039491	121039491	G	A	TECTA				NC_000011.9:g.121039491G>A	(Likely) benign	1 lab	dd06d71313
2:167083063 SCN9A T>C	2	167083063	167083063	T	C	SCN9A	c.4365+14A>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167083063T>C	(Likely) benign	1 lab	dd07765119
13:32889803 BRCA2 G>A	13	32889803	32889803	G	A	BRCA2	c.-41G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32889803G>A	(Likely) benign	1 lab	dd08e6757b
2:190445194 SLC40A1 G>C	2	190445194	190445194	G	C	SLC40A1	c.-8C>G	NM_014585.5	NP_055400.1:p.?	NC_000002.11:g.190445194G>C	(Likely) benign	1 lab	dd09f9a05c
17:56440639 RNF43 G>A	17	56440639	56440639	G	A	RNF43	c.579C>T	NM_017763.6	NP_060233.3:p.(Ala193=)	NC_000017.10:g.56440639G>A	(Likely) benign	1 lab	dd0ce510be
3:37048541 MLH1 G>A	3	37048541	37048541	G	A	MLH1	c.440G>A	NM_000249.3	NP_000240.1:p.(Gly147Glu)	NC_000003.11:g.37048541G>A	(Likely) pathogenic	1 lab	dd108ddfb7
5:180045700 FLT4 G>GGGTTACCCTA	5	180045700	180045703	G	GGGTTACCCTA	FLT4	c.3001+69_3001+70insTAGGGTAACC	NM_182925.4	NP_891555.2:p.?	NC_000005.9:g.180045702_180045703insTTACCCTAGG	VUS	1 lab	dd138201cf
9:94493258 ROR2 C>T	9	94493258	94493258	C	T	ROR2	c.1117G>A	NM_004560.3	NP_004551.2:p.(Glu373Lys)	NC_000009.11:g.94493258C>T	VUS	1 lab	dd13a63d13
2:215645319 BARD1 TATG>T	2	215645319	215645324	TATG	T	BARD1	c.1276_1278del	NM_000465.4	NP_000456.2:p.(His426del)	NC_000002.11:g.215645322_215645324del	VUS	1 lab	dd142d7b24
3:78711265 ROBO1 C>T	3	78711265	78711265	C	T	ROBO1	c.1967-1G>A	NM_002941.3	NP_002932.1:p.?	NC_000003.11:g.78711265C>T	VUS	1 lab	dd1874ef7b
1:224619207 WDR26 A>T	1	224619207	224619207	A	T	WDR26	c.599T>A	NM_025160.6	NP_079436.4:p.(Ile200Asn)	NC_000001.10:g.224619207A>T	VUS	1 lab	dd1c6ca7b5
8:144899624 PUF60 C>A	8	144899624	144899624	C	A	PUF60	c.1021G>T	NM_078480.2	NP_510965.1:p.(Gly341Ter)	NC_000008.10:g.144899624C>A	(Likely) pathogenic	1 lab	dd1d754fe0
2:73747036 MISSING G>A	2	73747036	73747036	G	A	MISSING				NC_000002.11:g.73747036G>A	(Likely) benign	1 lab	dd1db24c70
1:100353534 AGL T>A	1	100353534	100353534	T	A	AGL	c.2682T>A	NM_000028.2	NP_000019.2:p.(Ser894=)	NC_000001.10:g.100353534T>A	(Likely) benign	1 lab	dd1de8048c
10:48389388 RBP3 T>C	10	48389388	48389388	T	C	RBP3	c.1490A>G	NM_002900.3	NP_002891.1:p.(Gln497Arg)	NC_000010.10:g.48389388T>C	VUS	1 lab	dd201b505c
22:24143269 SMARCB1 G>A	22	24143269	24143269	G	A	SMARCB1	c.500+1G>A	NM_003073.3	NP_003064.2:p.?	NC_000022.10:g.24143269G>A	(Likely) pathogenic	1 lab	dd206701cd
8:105393479 DPYS TG>T	8	105393479	105393481	TG	T	DPYS	c.1506del	NM_001385.2	NP_001376.1:p.(Arg503GlufsTer2)	NC_000008.10:g.105393481del	VUS	1 lab	dd22a6ff4c
17:41276032 BRCA1 A>G	17	41276032	41276032	A	G	BRCA1	c.80+2T>C	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276032A>G	(Likely) pathogenic	1 lab	dd23392470
19:48917774 GRIN2D G>A	19	48917774	48917774	G	A	GRIN2D	c.1345G>A	NM_000836.4	NP_000827.2:p.(Asp449Asn)	NC_000019.9:g.48917774G>A	VUS	1 lab	dd26136518
3:154884795 MME G>A	3	154884795	154884795	G	A	MME	c.1765G>A	NM_000902.3	NP_000893.2:p.(Gly589Ser)	NC_000003.11:g.154884795G>A	VUS	1 lab	dd28811aee
11:62380851 B3GAT3 G>A	11	62380851	62380851	G	A	B3GAT3				NC_000011.9:g.62380851G>A	VUS	1 lab	dd2ba17319
17:62022968 SCN4A G>A	17	62022968	62022968	G	A	SCN4A	c.3472C>T	NM_000334.4	NP_000325.4:p.(Pro1158Ser)	NC_000017.10:g.62022968G>A	(Likely) pathogenic	1 lab	dd2f7258bc
22:50662855 TUBGCP6 T>C	22	50662855	50662855	T	C	TUBGCP6	c.2066-6A>G	NM_020461.4	NP_065194.3:p.?	NC_000022.10:g.50662855T>C	(Likely) pathogenic	1 lab	dd32b46b62
6:79707125 PHIP C>T	6	79707125	79707125	C	T	PHIP	c.2201+6G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79707125C>T	(Likely) benign	1 lab	138ffc7db5
1:236910967 ACTN2 T>C	1	236910967	236910967	T	C	ACTN2	c.1407T>C	NM_001103.4	NP_001094.1:p.(Asn469=)	NC_000001.10:g.236910967T>C	(Likely) benign	1 lab	dd38b6d8c2
5:148407374 SH3TC2 G>A	5	148407374	148407374	G	A	SH3TC2	c.1921C>T	NM_024577.4	NP_078853.2:p.(Arg641Cys)	NC_000005.9:g.148407374G>A	VUS	1 lab	dd3917f9e5
5:112178289 APC G>C	5	112178289	112178289	G	C	APC	c.6998G>C	NM_000038.6	NP_000029.2:p.(Arg2333Thr)	NC_000005.9:g.112178289G>C	VUS	1 lab	dd3b3d89d9
22:29120975 CHEK2 G>T	22	29120975	29120975	G	T	CHEK2	c.582C>A	NM_007194.4	NP_009125.1:p.(Ser194Arg)	NC_000022.10:g.29120975G>T	(Likely) benign	1 lab	dd3fae0e2e
13:32893325 BRCA2 A>G	13	32893325	32893325	A	G	BRCA2	c.179A>G	NM_000059.4	NP_000050.3:p.(Asn60Ser)	NC_000013.10:g.32893325A>G	(Likely) benign	1 lab	1396664758
10:123245077 FGFR2 T>C	10	123245077	123245077	T	C	FGFR2	c.2058-31A>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123245077T>C	(Likely) benign	1 lab	dd4c3baeec
12:66219144 HMGA2 C>A	12	66219144	66219144	C	A	HMGA2	c.94C>A	NM_003483.6	NP_003474.1:p.(Pro32Thr)	NC_000012.11:g.66219144C>A	VUS	1 lab	dd4c8d4ba3
10:114053546 MISSING C>G	10	114053546	114053546	C	G	MISSING				NC_000010.10:g.114053546C>G	(Likely) benign	1 lab	dd50149377
22:38122122 TRIOBP T>C	22	38122122	38122122	T	C	TRIOBP	c.3559T>C	NM_001039141.2	NP_001034230.1:p.(Phe1187Leu)	NC_000022.10:g.38122122T>C	(Likely) benign	1 lab	dd51f8acb5
1:7798544 CAMTA1 T>C	1	7798544	7798544	T	C	CAMTA1	c.4182+2T>C	NM_015215.4	NP_056030.1:p.?	NC_000001.10:g.7798544T>C	VUS	1 lab	dd52c821e6
1:153785862 GATAD2B G>A	1	153785862	153785862	G	A	GATAD2B	c.1283C>T	NM_020699.4	NP_065750.1:p.(Thr428Ile)	NC_000001.10:g.153785862G>A	VUS	1 lab	139b6a4de7
3:8788151 CAV3 G>C	3	8788151	8788151	G	C	CAV3	c.*598G>C	NM_033337.2	NP_203123.1:p.?	NC_000003.11:g.8788151G>C	VUS	1 lab	dd5b38cf30
14:24731033 TGM1 G>A	14	24731033	24731033	G	A	TGM1	c.376C>T	NM_000359.2	NP_000350.1:p.(Arg126Cys)	NC_000014.8:g.24731033G>A	(Likely) pathogenic	1 lab	dd60b75199
12:57407140 TAC3 T>G	12	57407140	57407140	T	G	TAC3				NC_000012.11:g.57407140T>G	VUS	1 lab	ebcb4d74a5
9:95481302 BICD2 C>T	9	95481302	95481302	C	T	BICD2	c.1625G>A	NM_001003800.2	NP_001003800.1:p.(Cys542Tyr)	NC_000009.11:g.95481302C>T	(Likely) pathogenic	1 lab	dd67f68739
6:42689580 PRPH2 A>G	6	42689580	42689580	A	G	PRPH2	c.493T>C	NM_000322.5	NP_000313.2:p.(Cys165Arg)	NC_000006.11:g.42689580A>G	(Likely) pathogenic	1 lab	dd684d9a7f
6:33138132 COL11A2 G>A	6	33138132	33138132	G	A	COL11A2	c.3553C>T	NM_080680.3	NP_542411.2:p.(Arg1185Ter)	NC_000006.11:g.33138132G>A	(Likely) pathogenic	1 lab	dd689fd371
6:152737980 SYNE1 C>CT	6	152737980	152737981	C	CT	SYNE1	c.5591dup	NM_182961.3	NP_892006.3:p.(Leu1865AlafsTer35)	NC_000006.11:g.152737981dup	(Likely) pathogenic	1 lab	dd6e68a4ed
3:38651372 SCN5A C>T	3	38651372	38651372	C	T	SCN5A	c.787G>A	NM_198056.2	NP_932173.1:p.(Val263Ile)	NC_000003.11:g.38651372C>T	VUS	1 lab	dd6ed371bb
16:23637673 PALB2 C>A	16	23637673	23637673	C	A	PALB2	c.2632G>T	NM_024675.3	NP_078951.2:p.(Glu878Ter)	NC_000016.9:g.23637673C>A	(Likely) pathogenic	1 lab	dd6fa924ad
15:38614606 SPRED1 T>A	15	38614606	38614606	T	A	SPRED1	c.372T>A	NM_152594.2	NP_689807.1:p.(Ser124=)	NC_000015.9:g.38614606T>A	(Likely) benign	1 lab	dd7b6bb7e2
17:80878454 TBCD G>T	17	80878454	80878454	G	T	TBCD	c.2061G>T	NM_005993.5	NP_005984.3:p.(Leu687Phe)	NC_000017.10:g.80878454G>T	VUS	1 lab	dd7cf33a7c
X:154001427 DKC1 C>T	X	154001427	154001427	C	T	DKC1	c.1058C>T	NM_001363.3	NP_001354.1:p.(Ala353Val)	NC_000023.10:g.154001427C>T	(Likely) pathogenic	1 lab	dd830308bb
X:153764264 G6PD A>G	X	153764264	153764264	A	G	G6PD	c.159-4T>C	NM_001042351.3	NP_001035810.1:p.?	NC_000023.10:g.153764264A>G	(Likely) benign	1 lab	139e192130
9:77407565 TRPM6 G>A	9	77407565	77407565	G	A	TRPM6	c.2513C>T	NM_017662.4	NP_060132.3:p.(Pro838Leu)	NC_000009.11:g.77407565G>A	VUS	1 lab	dd8acab694
5:251583 SDHA G>A	5	251583	251583	G	A	SDHA	c.1794G>A	NM_004168.3	NP_004159.2:p.(Lys598=)	NC_000005.9:g.251583G>A	VUS	1 lab	dd8eba9329
1:51439847 CDKN2C G>GA	1	51439847	51439848	G	GA	CDKN2C	c.413dup	NM_001262.3	NP_001253.1:p.(Asp138GlufsTer5)	NC_000001.10:g.51439848dup	VUS	1 lab	13a523c392
6:42975694 PPP2R5D G>A	6	42975694	42975694	G	A	PPP2R5D	c.748G>A	NM_006245.3	NP_006236.1:p.(Glu250Lys)	NC_000006.11:g.42975694G>A	VUS	1 lab	dd93e2da58
6:42666175 PRPH2 TCA>T	6	42666175	42666177	TCA	T	PRPH2	c.897_898del	NM_000322.4	NP_000313.2:p.(Ser301ArgfsTer90)	NC_000006.11:g.42666176_42666177del	(Likely) pathogenic	1 lab	dd9546b55d
1:31414076 PUM1 C>CCG	1	31414076	31414078	C	CCG	PUM1	c.3162_3163dup	NM_001020658.1	NP_001018494.1:p.(Gly1055AlafsTer11)	NC_000001.10:g.31414077_31414078dup	(Likely) pathogenic	1 lab	dd95752d24
X:119575656 LAMP2 CCAGA>C	X	119575656	119575662	CCAGA	C	LAMP2	c.1018_1021del	NM_013995.2	NP_054701.1:p.(Ser340GlufsTer5)	NC_000023.10:g.119575659_119575662del	(Likely) pathogenic	1 lab	dd9586a192
19:42490293 ATP1A3 T>C	19	42490293	42490293	T	C	ATP1A3	c.446A>G	NM_152296.4	NP_689509.1:p.(Glu149Gly)	NC_000019.9:g.42490293T>C	VUS	1 lab	dd97bdcc6a
11:118375758 KMT2A C>G	11	118375758	118375758	C	G	KMT2A	c.9151C>G	NM_001197104.2	NP_001184033.1:p.(Pro3051Ala)	NC_000011.9:g.118375758C>G	VUS	1 lab	13a6f20998
22:37470715 TMPRSS6 C>G	22	37470715	37470715	C	G	TMPRSS6	c.1403G>C	NM_153609.3	NP_705837.1:p.(Gly468Ala)	NC_000022.10:g.37470715C>G	VUS	1 lab	dd9b51c747
13:32913418 BRCA2 T>G	13	32913418	32913418	T	G	BRCA2	c.4926T>G	NM_000059.3	NP_000050.2:p.(Asn1642Lys)	NC_000013.10:g.32913418T>G	(Likely) benign	1 lab	dd9bb0611a
13:23912890 SACS G>A	13	23912890	23912890	G	A	SACS	c.5125C>T	NM_014363.4	NP_055178.3:p.(Gln1709Ter)	NC_000013.10:g.23912890G>A	(Likely) pathogenic	1 lab	dd9c428384
4:122737988 EXOSC9 AAAAAG>A	4	122737988	122737995	AAAAAG	A	EXOSC9	c.1351_1355del	NM_001034194.2	NP_001029366.1:p.(Lys451GlufsTer15)	NC_000004.11:g.122737991_122737995del	VUS	1 lab	13a7bfea69
10:88671975 BMPR1A T>C	10	88671975	88671975	T	C	BMPR1A	c.531-22T>C	NM_004329.2	NP_004320.2:p.?	NC_000010.10:g.88671975T>C	(Likely) benign	1 lab	dda261560f
8:97156891 GDF6 G>A	8	97156891	97156891	G	A	GDF6				NC_000008.10:g.97156891G>A	(Likely) benign	1 lab	dda910eb5d
18:48573736 SMAD4 A>G	18	48573736	48573736	A	G	SMAD4	c.249+71A>G	NM_005359.5	NP_005350.1:p.?	NC_000018.9:g.48573736A>G	(Likely) benign	1 lab	ddaa7f2ec6
12:6143997 VWF G>A	12	6143997	6143997	G	A	VWF	c.2547-5C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6143997G>A	(Likely) benign	1 lab	ddaa947971
3:46008790 FYCO1 G>A	3	46008790	46008790	G	A	FYCO1	c.2036C>T	NM_024513.4	NP_078789.2:p.(Ala679Val)	NC_000003.11:g.46008790G>A	(Likely) benign	1 lab	13a82322b2
21:47406582 COL6A1 A>T	21	47406582	47406582	A	T	COL6A1	c.571A>T	NM_001848.2	NP_001839.2:p.(Ile191Phe)	NC_000021.8:g.47406582A>T	VUS	1 lab	ddaef407d9
X:100653752 GLA A>G	X	100653752	100653752	A	G	GLA	c.801+21T>C	NM_000169.2	NP_000160.1:p.?	NC_000023.10:g.100653752A>G	(Likely) benign	1 lab	ddb3519704
Y:2655250 SRY C>G	Y	2655250	2655250	C	G	SRY	c.395G>C	NM_003140.2	NP_003131.1:p.(Arg132Pro)	NC_000024.9:g.2655250C>G	(Likely) pathogenic	1 lab	ddb36a75fc
17:59557433 TBX4 T>C	17	59557433	59557433	T	C	TBX4	c.792-18T>C	NM_018488.2	NP_060958.2:p.?	NC_000017.10:g.59557433T>C	(Likely) benign	1 lab	ddef67fa80
17:7750000 KDM6B CAG>C	17	7750000	7750002	CAG	C	KDM6B	c.654_655del	NM_001348716.2	NP_001335645.1:p.(Glu220GlyfsTer16)	NC_000017.10:g.7750001_7750002del	VUS	1 lab	ddb51a52e1
2:179407763 TTN CTT>C	2	179407763	179407778	CTT	C	TTN	c.96904+31_96904+32del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179407777_179407778del	(Likely) benign	1 lab	ddb65bbd7b
9:127262562 NR5A1 A>C	9	127262562	127262562	A	C	NR5A1	c.677T>G	NM_004959.4	NP_004950.2:p.(Leu226Arg)	NC_000009.11:g.127262562A>C	(Likely) pathogenic	1 lab	ddb7777cb0
8:42693283 THAP1 T>G	8	42693283	42693283	T	G	THAP1				NC_000008.10:g.42693283T>G	(Likely) pathogenic	1 lab	ddb846e46e
3:122002644 CASR G>C	3	122002644	122002644	G	C	CASR	c.1843G>C	NM_000388.4	NP_000379.3:p.(Ala615Pro)	NC_000003.11:g.122002644G>C	VUS	1 lab	ddb9c651a5
17:41202897 BRCA1 GT>G	17	41202897	41202906	GT	G	BRCA1	c.5332+182del	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41202906del	(Likely) benign	1 lab	15bd3df78d
7:73474265 ELN T>A	7	73474265	73474265	T	A	ELN	c.1464T>A	NM_000501.3	NP_000492.2:p.(Gly488=)	NC_000007.13:g.73474265T>A	(Likely) benign	1 lab	ddc00aafac
X:49076162 CACNA1F A>T	X	49076162	49076162	A	T	CACNA1F	c.2507T>A	NM_005183.4	NP_005174.2:p.(Val836Asp)	NC_000023.10:g.49076162A>T	VUS	1 lab	ddc0e7cb23
15:89811621 FANCI A>G	15	89811621	89811621	A	G	FANCI	c.756-9A>G	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89811621A>G	VUS	1 lab	ddc2a43847
18:59763135 PIGN C>T	18	59763135	59763135	C	T	PIGN	c.2126G>A	NM_176787.4	NP_789744.1:p.(Arg709Gln)	NC_000018.9:g.59763135C>T	(Likely) pathogenic	1 lab	345839f9fc
22:21341819 LZTR1 C>G	22	21341819	21341819	C	G	LZTR1	c.347C>G	NM_006767.4	NP_006758.2:p.(Ala116Gly)	NC_000022.10:g.21341819C>G	VUS	1 lab	ddc87f157a
2:216249587 FN1 C>T	2	216249587	216249587	C	T	FN1	c.4725G>A	NM_212482.1	NP_997647.1:p.(Glu1575=)	NC_000002.11:g.216249587C>T	(Likely) benign	1 lab	ddcaf8cb5a
5:112179549 APC A>G	5	112179549	112179549	A	G	APC	c.8258A>G	NM_000038.5	NP_000029.2:p.(Glu2753Gly)	NC_000005.9:g.112179549A>G	VUS	1 lab	ddcbf10669
7:6035247 PMS2 G>A	7	6035247	6035247	G	A	PMS2	c.821C>T	NM_000535.7	NP_000526.2:p.(Ser274Leu)	NC_000007.13:g.6035247G>A	(Likely) pathogenic	1 lab	ddcd5d6df1
8:41791981 KAT6A AG>A	8	41791981	41791983	AG	A	KAT6A	c.3756del	NM_006766.4	NP_006757.2:p.(Ser1253LeufsTer41)	NC_000008.10:g.41791983del	(Likely) pathogenic	1 lab	ddcf2b9114
17:18036537 MYO15A A>T	17	18036537	18036537	A	T	MYO15A				NC_000017.10:g.18036537A>T	(Likely) pathogenic	1 lab	ddd96d8112
1:145416626 HJV G>A	1	145416626	145416626	G	A	HJV	c.971G>A	NM_213653.3	NP_998818.1:p.(Ser324Asn)	NC_000001.10:g.145416626G>A	(Likely) benign	1 lab	ddde09700b
3:38798179 SCN10A G>A	3	38798179	38798179	G	A	SCN10A	c.1276C>T	NM_006514.4	NP_006505.4:p.(Arg426Trp)	NC_000003.11:g.38798179G>A	(Likely) benign	1 lab	dde2883335
10:43609102 RET T>C	10	43609102	43609102	T	C	RET	c.1858T>C	NM_020975.4	NP_066124.1:p.(Cys620Arg)	NC_000010.10:g.43609102T>C	(Likely) pathogenic	1 lab	15bd7f5419
19:59073764 MZF1 C>A	19	59073764	59073764	C	A	MZF1	c.1880G>T	NM_003422.2	NP_003413.2:p.(Cys627Phe)	NC_000019.9:g.59073764C>A	VUS	1 lab	dde6098590
2:73679956 MISSING C>T	2	73679956	73679956	C	T	MISSING				NC_000002.11:g.73679956C>T	(Likely) benign	1 lab	dde612c72a
7:77256945 PTPN12 T>C	7	77256945	77256945	T	C	PTPN12	c.1949T>C	NM_002835.3	NP_002826.3:p.(Ile650Thr)	NC_000007.13:g.77256945T>C	VUS	1 lab	dde6cd42d6
14:68252830 ZFYVE26 C>T	14	68252830	68252830	C	T	ZFYVE26	c.3139+1G>A	NM_015346.3	NP_056161.2:p.?	NC_000014.8:g.68252830C>T	(Likely) pathogenic	1 lab	15be161448
3:193365923 OPA1 G>C	3	193365923	193365923	G	C	OPA1	c.1770G>C	NM_015560.2	NP_056375.2:p.(Arg590=)	NC_000003.11:g.193365923G>C	(Likely) pathogenic	1 lab	dde77eb48c
19:2251289 AMH T>C	19	2251289	2251289	T	C	AMH	c.1016T>C	NM_000479.5	NP_000470.3:p.(Leu339Pro)	NC_000019.9:g.2251289T>C	(Likely) pathogenic	1 lab	dde7a73561
2:179483329 TTN T>C	2	179483329	179483329	T	C	TTN	c.46948A>G	NM_001267550.2	NP_001254479.2:p.(Ile15650Val)	NC_000002.11:g.179483329T>C	VUS	1 lab	ddeb020e22
19:6681967 C3 G>C	19	6681967	6681967	G	C	C3	c.4335C>G	NM_000064.4	NP_000055.2:p.(Ile1445Met)	NC_000019.9:g.6681967G>C	VUS	1 lab	13aeb4a258
5:235216 SDHA G>A	5	235216	235216	G	A	SDHA	c.1065-43G>A	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.235216G>A	(Likely) benign	1 lab	dded4611ea
19:54307322 NLRP12 G>T	19	54307322	54307322	G	T	NLRP12	c.2469C>A	NM_144687.4	NP_653288.1:p.(Leu823=)	NC_000019.9:g.54307322G>T	(Likely) benign	1 lab	347c8c4cbc
13:41134537 FOXO1 TCAGA>T	13	41134537	41134546	TCAGA	T	FOXO1	c.1087_1090del	NM_002015.4	NP_002006.2:p.(Ser363ArgfsTer2)	NC_000013.10:g.41134543_41134546del	VUS	1 lab	ddf2f8b950
9:130444768 STXBP1 G>T	9	130444768	130444768	G	T	STXBP1	c.1631G>T	NM_001032221.6	NP_001027392.1:p.(Gly544Val)	NC_000009.11:g.130444768G>T	(Likely) pathogenic	1 lab	ddf3771cf5
3:37055922 MLH1 G>C	3	37055922	37055922	G	C	MLH1	c.678-1G>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37055922G>C	(Likely) pathogenic	1 lab	ddf3b4d91a
12:111082911 TCTN1 A>T	12	111082911	111082911	A	T	TCTN1	c.1471A>T	NM_001082538.3	NP_001076007.1:p.(Ile491Phe)	NC_000012.11:g.111082911A>T	(Likely) benign	1 lab	15c6af85a7
16:2150275 PKD1 C>A	16	2150275	2150275	C	A	PKD1	c.9604G>T	NM_001009944.3	NP_001009944.3:p.(Val3202Phe)	NC_000016.9:g.2150275C>A	(Likely) pathogenic	1 lab	ddf4c47220
11:120973430 TECTA A>G	11	120973430	120973430	A	G	TECTA				NC_000011.9:g.120973430A>G	(Likely) benign	1 lab	ddf6887353
8:75263599 GDAP1 C>T	8	75263599	75263599	C	T	GDAP1	c.208C>T	NM_018972.2	NP_061845.2:p.(Arg70Cys)	NC_000008.10:g.75263599C>T	VUS	1 lab	ddf74ad9de
14:51058328 ATL1 G>T	14	51058328	51058328	G	T	ATL1	c.493G>T	NM_015915.4	NP_056999.2:p.(Ala165Ser)	NC_000014.8:g.51058328G>T	(Likely) pathogenic	1 lab	de1b0fc887
7:150675012 KCNH2 T>TGGGCCGGCC	7	150675012	150675017	T	TGGGCCGGCC	KCNH2	c.-12_-11insGGCCGGCCC	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150675016_150675017insCGGCCGGGC	(Likely) benign	1 lab	ddf76be75c
X:73740848 SLC16A2 G>T	X	73740848	73740848	G	T	SLC16A2	c.454G>T	NM_006517.5	NP_006508.2:p.(Gly152Cys)	NC_000023.10:g.73740848G>T	VUS	1 lab	ddf84e171f
17:4842257 SLC25A11 G>A	17	4842257	4842257	G	A	SLC25A11	c.262C>T	NM_003562.5	NP_003553.2:p.(Leu88=)	NC_000017.10:g.4842257G>A	(Likely) benign	1 lab	ddf9106c60
16:20344532 UMOD G>A	16	20344532	20344532	G	A	UMOD	c.*104C>T	NM_003361.3	NP_003352.2:p.?	NC_000016.9:g.20344532G>A	(Likely) benign	1 lab	ddfc6a4f3c
11:13722047 FAR1 C>T	11	13722047	13722047	C	T	FAR1	c.365+8C>T	NM_032228.6	NP_115604.1:p.?	NC_000011.9:g.13722047C>T	VUS	1 lab	229a7cbd28
2:167318979 SCN7A T>C	2	167318979	167318979	T	C	SCN7A	c.1003A>G	NM_002976.3	NP_002967.2:p.(Asn335Asp)	NC_000002.11:g.167318979T>C	(Likely) benign	1 lab	ddfe574aee
21:37833279 CLDN14 C>T	21	37833279	37833279	C	T	CLDN14	c.715G>A	NM_144492.3	NP_652763.1:p.(Val239Met)	NC_000021.8:g.37833279C>T	VUS	1 lab	de02184ae6
2:179599218 TTN G>A	2	179599218	179599218	G	A	TTN	c.15333C>T	NM_001267550.2	NP_001254479.2:p.(Asp5111=)	NC_000002.11:g.179599218G>A	(Likely) benign	1 lab	de05708204
10:88459632 LDB3 G>T	10	88459632	88459632	G	T	LDB3	c.*501G>T	NM_001080115.1	NP_001073584.1:p.?	NC_000010.10:g.88459632G>T	(Likely) benign	1 lab	de058c074b
3:71026814 FOXP1 A>T	3	71026814	71026814	A	T	FOXP1	c.1408T>A	NM_001349338.3	NP_001336267.1:p.(Tyr470Asn)	NC_000003.11:g.71026814A>T	VUS	1 lab	de05b3fbdb
3:123022987 ADCY5 C>T	3	123022987	123022987	C	T	ADCY5	c.2486G>A	NM_183357.2	NP_899200.1:p.(Arg829Gln)	NC_000003.11:g.123022987C>T	(Likely) benign	1 lab	de0701000d
6:117996884 NUS1 T>A	6	117996884	117996884	T	A	NUS1	c.51T>A	NM_138459.4	NP_612468.1:p.(Cys17Ter)	NC_000006.11:g.117996884T>A	(Likely) pathogenic	1 lab	de118ede12
1:236924477 ACTN2 T>TA	1	236924477	236924478	T	TA	ACTN2	c.2526+4_2526+5insA	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236924477_236924478insA	(Likely) benign	1 lab	de12236e71
2:225368373 CUL3 A>T	2	225368373	225368373	A	T	CUL3	c.1373T>A	NM_003590.4	NP_003581.1:p.(Leu458Ter)	NC_000002.11:g.225368373A>T	(Likely) pathogenic	1 lab	de17ed6f20
13:32913340 BRCA2 A>C	13	32913340	32913340	A	C	BRCA2	c.4848A>C	NM_000059.3	NP_000050.2:p.(Leu1616Phe)	NC_000013.10:g.32913340A>C	(Likely) benign	1 lab	de1add2814
22:34157526 LARGE1 G>A	22	34157526	34157526	G	A	LARGE1	c.-63C>T	NM_004737.4	NP_004728.1:p.?	NC_000022.10:g.34157526G>A	(Likely) benign	1 lab	de1b1535c5
10:123247044 FGFR2 T>C	10	123247044	123247044	T	C	FGFR2	c.1987-106A>G	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123247044T>C	(Likely) benign	1 lab	de1b1699a0
7:143021538 CLCN1 T>C	7	143021538	143021538	T	C	CLCN1	c.806T>C	NM_000083.3	NP_000074.3:p.(Val269Ala)	NC_000007.13:g.143021538T>C	VUS	1 lab	de205caee3
1:197403929 CRB1 G>A	1	197403929	197403929	G	A	CRB1	c.2936G>A	NM_201253.3	NP_957705.1:p.(Gly979Asp)	NC_000001.10:g.197403929G>A	VUS	1 lab	de21f9d32c
12:88513893 CEP290 A>C	12	88513893	88513893	A	C	CEP290	c.1520T>G	NM_025114.4	NP_079390.3:p.(Val507Gly)	NC_000012.11:g.88513893A>C	VUS	1 lab	de244b1bcd
2:170096291 LRP2 A>G	2	170096291	170096291	A	G	LRP2	c.4046-6T>C	NM_004525.2	NP_004516.2:p.?	NC_000002.11:g.170096291A>G	(Likely) benign	1 lab	de2458e927
11:66481876 SPTBN2 G>C	11	66481876	66481876	G	C	SPTBN2	c.486C>G	NM_006946.3	NP_008877.1:p.(Ile162Met)	NC_000011.9:g.66481876G>C	VUS	1 lab	de2474398c
19:13318672 CACNA1A C>CCTGCTGCTG	19	13318672	13318712	C	CCTGCTGCTG	CACNA1A	c.6967_6975dup	NM_001127222.2	NP_001120694.1:p.(Gln2323_Gln2325dup)	NC_000019.9:g.13318704_13318712dup	(Likely) benign	1 lab	13b2444b01
22:32239732 DEPDC5 G>T	22	32239732	32239732	G	T	DEPDC5	c.2735G>T	NM_001242896.1	NP_001229825.1:p.(Arg912Leu)	NC_000022.10:g.32239732G>T	VUS	1 lab	de26fd8d9a
22:20937641 MED15 T>C	22	20937641	20937641	T	C	MED15	c.1697T>C	NM_001003891.1	NP_001003891.1:p.(Met566Thr)	NC_000022.10:g.20937641T>C	VUS	1 lab	de2b567d57
4:151504333 MAB21L2 G>A	4	151504333	151504333	G	A	MAB21L2	c.152G>A	NM_006439.4	NP_006430.1:p.(Arg51His)	NC_000004.11:g.151504333G>A	(Likely) pathogenic	1 lab	de2bfa6d40
5:126147591 LMNB1 G>T	5	126147591	126147591	G	T	LMNB1	c.939+1G>T	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126147591G>T	(Likely) pathogenic	1 lab	de2dc98d39
13:26104716 ATP8A2 C>T	13	26104716	26104716	C	T	ATP8A2				NC_000013.10:g.26104716C>T	VUS	1 lab	de2f6ca01d
1:78407763 NEXN A>G	1	78407763	78407763	A	G	NEXN	c.1529A>G	NM_144573.3	NP_653174.3:p.(Lys510Arg)	NC_000001.10:g.78407763A>G	VUS	1 lab	de3163582d
11:47353899 MYBPC3 C>T	11	47353899	47353899	C	T	MYBPC3	c.3628-90G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47353899C>T	(Likely) benign	1 lab	de339031f1
12:46287509 ARID2 G>A	12	46287509	46287509	G	A	ARID2	c.5363+5G>A	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46287509G>A	(Likely) pathogenic	1 lab	de3572c989
17:7984258 ALOX12B C>CACAT	17	7984258	7984263	C	CACAT	ALOX12B	c.467_470dup	NM_001139.3	NP_001130.1:p.(His158CysfsTer20)	NC_000017.10:g.7984260_7984263dup	(Likely) pathogenic	1 lab	15c6f56d64
2:159497196 PKP4 G>C	2	159497196	159497196	G	C	PKP4	c.1620G>C	NM_003628.4	NP_003619.2:p.(Gln540His)	NC_000002.11:g.159497196G>C	VUS	1 lab	de3f72d2a6
17:45360730 ITGB3 T>C	17	45360730	45360730	T	C	ITGB3	c.176T>C	NM_000212.2	NP_000203.2:p.(Leu59Pro)	NC_000017.10:g.45360730T>C	(Likely) benign	1 lab	de44ddbf88
9:2181669 SMARCA2 A>C	9	2181669	2181669	A	C	SMARCA2	c.4352A>C	NM_003070.4	NP_003061.3:p.(Lys1451Thr)	NC_000009.11:g.2181669A>C	VUS	1 lab	de493fe8d9
11:108115652 ATM C>T	11	108115652	108115652	C	T	ATM	c.800C>T	NM_000051.3	NP_000042.3:p.(Thr267Ile)	NC_000011.9:g.108115652C>T	(Likely) benign	1 lab	de4a1e7e6f
15:28117052 OCA2 TGGAGATGTGC>T	15	28117052	28117062	TGGAGATGTGC	T	OCA2	c.2086_2095del	NM_000275.3	NP_000266.2:p.(Ala696ThrfsTer2)	NC_000015.9:g.28117053_28117062del	(Likely) pathogenic	1 lab	de4a363bcd
15:89401533 ACAN G>C	15	89401533	89401533	G	C	ACAN	c.5717G>C	NM_013227.3	NP_037359.3:p.(Gly1906Ala)	NC_000015.9:g.89401533G>C	VUS	1 lab	de4b3f216a
5:127497485 SLC12A2 T>A	5	127497485	127497485	T	A	SLC12A2				NC_000005.9:g.127497485T>A	(Likely) pathogenic	1 lab	de4bba65e4
19:35524683 SCN1B G>A	19	35524683	35524683	G	A	SCN1B	c.448+40G>A	NM_001037.5	NP_001028.1:p.?	NC_000019.9:g.35524683G>A	(Likely) benign	1 lab	de4cc5ede8
8:145738994 RECQL4 G>A	8	145738994	145738994	G	A	RECQL4	c.2161C>T	NM_004260.3	NP_004251.3:p.(Arg721Ter)	NC_000008.10:g.145738994G>A	(Likely) pathogenic	1 lab	de4d9bfbf9
2:179426168 TTN C>T	2	179426168	179426168	C	T	TTN	c.84691G>A	NM_001267550.2	NP_001254479.2:p.(Ala28231Thr)	NC_000002.11:g.179426168C>T	VUS	1 lab	de4edf137d
10:26446299 MYO3A A>C	10	26446299	26446299	A	C	MYO3A	c.2854A>C	NM_017433.4	NP_059129.3:p.(Ile952Leu)	NC_000010.10:g.26446299A>C	VUS	1 lab	de4f55e3e0
X:107815035 COL4A5 T>G	X	107815035	107815035	T	G	COL4A5	c.439-6T>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107815035T>G	(Likely) pathogenic	1 lab	de50d23147
11:64526140 PYGM G>A	11	64526140	64526140	G	A	PYGM	c.280C>T	NM_005609.3	NP_005600.1:p.(Arg94Trp)	NC_000011.9:g.64526140G>A	(Likely) pathogenic	1 lab	de517d14ad
2:127816632 BIN1 G>A	2	127816632	127816632	G	A	BIN1				NC_000002.11:g.127816632G>A	(Likely) benign	1 lab	de51b6eec7
5:1076245 SLC12A7 G>A	5	1076245	1076245	G	A	SLC12A7	c.1847+8C>T	NM_006598.2	NP_006589.2:p.?	NC_000005.9:g.1076245G>A	(Likely) benign	1 lab	f944e9b3bd
18:3188927 MYOM1 G>A	18	3188927	3188927	G	A	MYOM1	c.590C>T	NM_003803.3	NP_003794.3:p.(Thr197Met)	NC_000018.9:g.3188927G>A	(Likely) benign	1 lab	15c799683a
12:80761503 OTOGL C>A	12	80761503	80761503	C	A	OTOGL	c.6467C>A	NM_173591.3	NP_775862.3:p.(Ser2156Ter)	NC_000012.11:g.80761503C>A	(Likely) pathogenic	1 lab	de58b916c6
6:80228673 LCA5 T>C	6	80228673	80228673	T	C	LCA5	c.-62A>G	NM_181714.3	NP_859065.2:p.?	NC_000006.11:g.80228673T>C	(Likely) benign	1 lab	de5cc33979
6:76591464 MYO6 A>G	6	76591464	76591464	A	G	MYO6	c.2345A>G	NM_004999.3	NP_004990.3:p.(Lys782Arg)	NC_000006.11:g.76591464A>G	VUS	1 lab	de5ef4bea0
2:175618233 CHRNA1 G>T	2	175618233	175618233	G	T	CHRNA1	c.851C>A	NM_001039523.2	NP_001034612.1:p.(Ser284Ter)	NC_000002.11:g.175618233G>T	(Likely) pathogenic	1 lab	de5f237f14
17:78023750 CCDC40 C>T	17	78023750	78023750	C	T	CCDC40	c.901C>T	NM_017950.3	NP_060420.2:p.(Arg301Ter)	NC_000017.10:g.78023750C>T	(Likely) pathogenic	1 lab	de62ddef59
17:41244625 BRCA1 G>A	17	41244625	41244625	G	A	BRCA1				NC_000017.10:g.41244625G>A	(Likely) pathogenic	1 lab	de66e193e7
2:98354307 ZAP70 A>T	2	98354307	98354307	A	T	ZAP70	c.1570A>T	NM_001079.3	NP_001070.2:p.(Ser524Cys)	NC_000002.11:g.98354307A>T	(Likely) pathogenic	1 lab	de67f253fa
5:139493855 PURA CCGGCGGGGGCGGTGGTGG>C	5	139493855	139493885	CCGGCGGGGGCGGTGGTGG	C	PURA	c.102_119del	NM_005859.5	NP_005850.1:p.(Gly37_Gly42del)	NC_000005.9:g.139493868_139493885del	(Likely) benign	1 lab	13b33da18a
5:54528393 CCNO G>C	5	54528393	54528393	G	C	CCNO	c.382-19C>G	NM_021147.3	NP_066970.3:p.?	NC_000005.9:g.54528393G>C	(Likely) benign	1 lab	de699b7e26
1:215823992 USH2A T>C	1	215823992	215823992	T	C	USH2A	c.14285A>G	NM_206933.2	NP_996816.2:p.(Asn4762Ser)	NC_000001.10:g.215823992T>C	(Likely) pathogenic	1 lab	de6ebc28db
5:112175419 APC T>A	5	112175419	112175419	T	A	APC	c.4128T>A	NM_000038.6	NP_000029.2:p.(Tyr1376Ter)	NC_000005.9:g.112175419T>A	(Likely) pathogenic	1 lab	de704ce985
8:25280705 GNRH1 C>G	8	25280705	25280705	C	G	GNRH1	c.141+1G>C	NM_001083111.2	NP_001076580.1:p.?	NC_000008.10:g.25280705C>G	(Likely) pathogenic	1 lab	de7411f5a0
2:220285313 DES C>T	2	220285313	220285313	C	T	DES	c.832C>T	NM_001927.4	NP_001918.3:p.(Arg278Trp)	NC_000002.11:g.220285313C>T	VUS	1 lab	de758aed9b
1:156084848 LMNA G>C	1	156084848	156084848	G	C	LMNA	c.139G>C	NM_170708.3	NP_733822.1:p.(Asp47His)	NC_000001.10:g.156084848G>C	VUS	1 lab	de7888414d
11:66006323 PACS1 G>C	11	66006323	66006323	G	C	PACS1				NC_000011.9:g.66006323G>C	(Likely) benign	1 lab	de7da5783f
3:14220014 XPC G>A	3	14220014	14220014	G	A	XPC	c.55C>T	NM_004628.5	NP_004619.3:p.(Gln19Ter)	NC_000003.11:g.14220014G>A	(Likely) pathogenic	1 lab	de81a343b8
13:32913070 BRCA2 A>C	13	32913070	32913070	A	C	BRCA2	c.4578A>C	NM_000059.3	NP_000050.2:p.(Thr1526=)	NC_000013.10:g.32913070A>C	(Likely) benign	1 lab	de87fdfa4b
7:98506574 TRRAP C>T	7	98506574	98506574	C	T	TRRAP	c.1339C>T	NM_001375524.1	NP_001362453.1:p.(Arg447Trp)	NC_000007.13:g.98506574C>T	VUS	1 lab	de893f846c
7:147601001 CNTNAP2 C>T	7	147601001	147601001	C	T	CNTNAP2	c.2255+188C>T	NM_014141.6	NP_054860.1:p.?	NC_000007.13:g.147601001C>T	(Likely) benign	1 lab	15c9860516
12:110234487 TRPV4 C>A	12	110234487	110234487	C	A	TRPV4	c.1175G>T	NM_021625.5	NP_067638.3:p.(Arg392Leu)	NC_000012.11:g.110234487C>A	VUS	1 lab	de933afef6
20:62076059 KCNQ2 C>T	20	62076059	62076059	C	T	KCNQ2	c.643G>A	NM_172107.4	NP_742105.1:p.(Gly215Arg)	NC_000020.10:g.62076059C>T	(Likely) pathogenic	1 lab	15cb6279c7
11:61725667 BEST1 G>A	11	61725667	61725667	G	A	BEST1	c.764G>A	NM_004183.3	NP_004174.1:p.(Arg255Gln)	NC_000011.9:g.61725667G>A	VUS	1 lab	de96dd5160
X:13771530 OFD1 C>T	X	13771530	13771530	C	T	OFD1	c.1099C>T	NM_003611.2	NP_003602.1:p.(Arg367Ter)	NC_000023.10:g.13771530C>T	(Likely) pathogenic	1 lab	de986d9235
8:61765441 CHD7 C>T	8	61765441	61765441	C	T	CHD7				NC_000008.10:g.61765441C>T	(Likely) pathogenic	1 lab	de9ac73f39
8:126096274 WASHC5 C>A	8	126096274	126096274	C	A	WASHC5	c.-124-10G>T	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126096274C>A	(Likely) benign	1 lab	de9be07679
2:228131179 COL4A3 A>T	2	228131179	228131179	A	T	COL4A3				NC_000002.11:g.228131179A>T	(Likely) benign	1 lab	de9c8bcebf
11:2610113 KCNQ1 G>A	11	2610113	2610113	G	A	KCNQ1	c.1393+29G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2610113G>A	(Likely) benign	1 lab	de9fe152aa
16:56913523 SLC12A3 G>A	16	56913523	56913523	G	A	SLC12A3	c.1405G>A	NM_000339.2	NP_000330.2:p.(Ala469Thr)	NC_000016.9:g.56913523G>A	VUS	1 lab	dea1e7b1d9
17:7127024 ACADVL C>T	17	7127024	7127024	C	T	ACADVL	c.1244C>T	NM_000018.3	NP_000009.1:p.(Ala415Val)	NC_000017.10:g.7127024C>T	VUS	1 lab	dea583b841
3:77612423 ROBO2 G>A	3	77612423	77612423	G	A	ROBO2	c.1673G>A	NM_001128929.3	NP_001122401.1:p.(Trp558Ter)	NC_000003.11:g.77612423G>A	VUS	1 lab	dea5a779ea
7:140453999 BRAF G>T	7	140453999	140453999	G	T	BRAF	c.1729C>A	NM_004333.4	NP_004324.2:p.(Leu577Ile)	NC_000007.13:g.140453999G>T	(Likely) pathogenic	1 lab	dea789917e
2:48028048 MSH6 C>T	2	48028048	48028048	C	T	MSH6	c.2926C>T	NM_000179.3	NP_000170.1:p.(Arg976Cys)	NC_000002.11:g.48028048C>T	(Likely) pathogenic	1 lab	deac610acd
1:216051125 USH2A G>A	1	216051125	216051125	G	A	USH2A	c.8656C>T	NM_206933.2	NP_996816.2:p.(Leu2886Phe)	NC_000001.10:g.216051125G>A	(Likely) benign	1 lab	deac9216ef
1:169510348 F5 T>C	1	169510348	169510348	T	C	F5	c.3980A>G	NM_000130.4	NP_000121.2:p.(His1327Arg)	NC_000001.10:g.169510348T>C	(Likely) benign	1 lab	deaebcdd4f
7:141255295 AGK A>G	7	141255295	141255295	A	G	AGK	c.29A>G	NM_018238.3	NP_060708.1:p.(Asn10Ser)	NC_000007.13:g.141255295A>G	VUS	1 lab	deb383d70b
11:108163334 ATM T>CC	11	108163334	108163334	T	CC	ATM	c.4437-12delinsCC	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108163334delinsCC	(Likely) benign	1 lab	deb4beed61
1:237551479 RYR2 C>T	1	237551479	237551479	C	T	RYR2	c.769C>T	NM_001035.3	NP_001026.2:p.(Arg257Trp)	NC_000001.10:g.237551479C>T	VUS	1 lab	15d5068ee9
12:6131161 VWF A>G	12	6131161	6131161	A	G	VWF	c.3579T>C	NM_000552.3	NP_000543.2:p.(Pro1193=)	NC_000012.11:g.6131161A>G	(Likely) benign	1 lab	deb6859310
4:186423321 PDLIM3 G>C	4	186423321	186423321	G	C	PDLIM3				NC_000004.11:g.186423321G>C	VUS	1 lab	deba8bf51f
13:32893206 BRCA2 TTA>T	13	32893206	32893208	TTA	T	BRCA2	c.68-7_68-6del	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32893207_32893208del	(Likely) benign	1 lab	dec0cf2138
11:110124800 RDX T>C	11	110124800	110124800	T	C	RDX	c.830A>G	NM_002906.3	NP_002897.1:p.(Asn277Ser)	NC_000011.9:g.110124800T>C	VUS	1 lab	dec114af71
6:129513866 LAMA2 C>T	6	129513866	129513866	C	T	LAMA2	c.1650C>T	NM_000426.3	NP_000417.2:p.(Gly550=)	NC_000006.11:g.129513866C>T	(Likely) benign	1 lab	15d5b95f4c
22:38374006 SOX10 C>A	22	38374006	38374006	C	A	SOX10	c.565G>T	NM_006941.4	NP_008872.1:p.(Glu189Ter)	NC_000022.10:g.38374006C>A	(Likely) pathogenic	1 lab	dec529bd9a
7:92130946 PEX1 C>T	7	92130946	92130946	C	T	PEX1	c.2458G>A	NM_000466.3	NP_000457.1:p.(Gly820Arg)	NC_000007.13:g.92130946C>T	VUS	1 lab	039ed0cf8c
2:179392027 TTN C>T	2	179392027	179392027	C	T	TTN	c.107688G>A	NM_001267550.2	NP_001254479.2:p.(Pro35896=)	NC_000002.11:g.179392027C>T	(Likely) benign	1 lab	dec58d6831
11:108141977 ATM G>A	11	108141977	108141977	G	A	ATM	c.2922-1G>A	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108141977G>A	(Likely) pathogenic	1 lab	dec709d070
17:61678707 TACO1 C>T	17	61678707	61678707	C	T	TACO1	c.265C>T	NM_016360.3	NP_057444.2:p.(Arg89Cys)	NC_000017.10:g.61678707C>T	VUS	1 lab	dec7b9ebdf
2:145162784 ZEB2 A>C	2	145162784	145162784	A	C	ZEB2	c.404-193T>G	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145162784A>C	(Likely) benign	1 lab	15d9ede18e
17:33443999 RAD51D C>T	17	33443999	33443999	C	T	RAD51D	c.263+1521G>A	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33443999C>T	(Likely) benign	1 lab	decc2d95d0
11:26581281 ANO3 G>A	11	26581281	26581281	G	A	ANO3	c.1402G>A	NM_031418.2	NP_113606.2:p.(Asp468Asn)	NC_000011.9:g.26581281G>A	VUS	1 lab	decd856bc5
13:52520421 ATP7B T>C	13	52520421	52520421	T	C	ATP7B	c.3059A>G	NM_000053.4	NP_000044.2:p.(Lys1020Arg)	NC_000013.10:g.52520421T>C	(Likely) pathogenic	1 lab	15db55c8dc
2:48026851 MSH6 C>T	2	48026851	48026851	C	T	MSH6	c.1729C>T	NM_000179.3	NP_000170.1:p.(Arg577Cys)	NC_000002.11:g.48026851C>T	VUS	1 lab	decf08eee3
1:216380677 USH2A A>C	1	216380677	216380677	A	C	USH2A	c.3254T>G	NM_206933.4	NP_996816.3:p.(Leu1085Arg)	NC_000001.10:g.216380677A>C	VUS	1 lab	ded0f402d4
17:18051383 MYO15A T>C	17	18051383	18051383	T	C	MYO15A	c.6550T>C	NM_016239.4	NP_057323.3:p.(Cys2184Arg)	NC_000017.10:g.18051383T>C	VUS	1 lab	ded49a5fc1
1:26126680 SELENON T>C	1	26126680	26126680	T	C	SELENON	c.-42T>C	NM_020451.2	NP_065184.2:p.?	NC_000001.10:g.26126680T>C	(Likely) benign	1 lab	ded75c7417
5:92929300 NR2F1 G>A	5	92929300	92929300	G	A	NR2F1	c.1024G>A	NM_005654.5	NP_005645.1:p.(Glu342Lys)	NC_000005.9:g.92929300G>A	VUS	1 lab	def61dc7a3
10:68138992 CTNNA3 G>A	10	68138992	68138992	G	A	CTNNA3	c.1650C>T	NM_013266.3	NP_037398.2:p.(Ile550=)	NC_000010.10:g.68138992G>A	(Likely) benign	1 lab	dedbcba069
5:139494331 PURA G>C	5	139494331	139494331	G	C	PURA	c.565G>C	NM_005859.4	NP_005850.1:p.(Ala189Pro)	NC_000005.9:g.139494331G>C	(Likely) pathogenic	1 lab	dee1409ff6
3:52486259 TNNC1 G>T	3	52486259	52486259	G	T	TNNC1	c.65C>A	NM_003280.2	NP_003271.1:p.(Ala22Glu)	NC_000003.11:g.52486259G>T	VUS	1 lab	dee14773ff
17:65960485 BPTF T>G	17	65960485	65960485	T	G	BPTF	c.8419T>G	NM_182641.3	NP_872579.2:p.(Tyr2807Asp)	NC_000017.10:g.65960485T>G	VUS	1 lab	dee73df105
1:3334502 PRDM16 C>T	1	3334502	3334502	C	T	PRDM16	c.2802C>T	NM_022114.3	NP_071397.3:p.(Ser934=)	NC_000001.10:g.3334502C>T	(Likely) benign	1 lab	dee97d1059
14:67635507 GPHN G>A	14	67635507	67635507	G	A	GPHN	c.1976-143G>A	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67635507G>A	(Likely) benign	1 lab	15f112b909
1:201330583 TNNT2 A>G	1	201330583	201330583	A	G	TNNT2	c.690-86T>C	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201330583A>G	(Likely) benign	1 lab	deea8406e5
1:216462605 USH2A T>C	1	216462605	216462605	T	C	USH2A	c.1971+17A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216462605T>C	(Likely) benign	1 lab	deec8ca3a3
7:99699407 AP4M1 C>T	7	99699407	99699407	C	T	AP4M1	c.58+12C>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99699407C>T	(Likely) benign	1 lab	deec8e8df9
13:86369186 SLITRK6 CTTAG>C	13	86369186	86369194	CTTAG	C	SLITRK6	c.1454_1457del	NM_032229.2	NP_115605.2:p.(Thr485ArgfsTer2)	NC_000013.10:g.86369191_86369194del	(Likely) pathogenic	1 lab	def1d0976a
11:9537863 ZNF143 C>T	11	9537863	9537863	C	T	ZNF143	c.1640C>T	NM_003442.6	NP_003433.3:p.(Thr547Met)	NC_000011.9:g.9537863C>T	VUS	1 lab	13bf55b2ca
11:67842204 CHKA G>A	11	67842204	67842204	G	A	CHKA	c.610C>T	NM_001277.3	NP_001268.2:p.(Arg204Ter)	NC_000011.9:g.67842204G>A	(Likely) pathogenic	1 lab	def3dc83ea
20:62293272 RTEL1 A>G	20	62293272	62293272	A	G	RTEL1	c.371A>G	NM_032957.4	NP_116575.3:p.(Asn124Ser)	NC_000020.10:g.62293272A>G	(Likely) benign	1 lab	def47d8a40
2:149806847 MISSING G>A	2	149806847	149806847	G	A	MISSING				NC_000002.11:g.149806847G>A	VUS	1 lab	df21b58d9b
1:94546114 ABCA4 T>C	1	94546114	94546114	T	C	ABCA4	c.1019A>G	NM_000350.2	NP_000341.2:p.(Tyr340Cys)	NC_000001.10:g.94546114T>C	VUS	1 lab	def751cf16
7:30668233 GARS1 A>G	7	30668233	30668233	A	G	GARS1	c.1757A>G	NM_002047.2	NP_002038.2:p.(Tyr586Cys)	NC_000007.13:g.30668233A>G	VUS	1 lab	def9cb9b59
10:92679921 ANKRD1 C>G	10	92679921	92679921	C	G	ANKRD1	c.207+5G>C	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92679921C>G	(Likely) benign	1 lab	defaea5611
12:70004489 LRRC10 A>T	12	70004489	70004489	A	T	LRRC10	c.130T>A	NM_201550.3	NP_963844.2:p.(Phe44Ile)	NC_000012.11:g.70004489A>T	(Likely) benign	1 lab	defe1004b9
16:90106868 DRC4 C>T	16	90106868	90106868	C	T	DRC4	c.1172C>T	NM_001481.3	NP_001472.1:p.(Ala391Val)	NC_000016.9:g.90106868C>T	(Likely) pathogenic	1 lab	defe2d75c5
1:196876528 CFHR4 G>C	1	196876528	196876528	G	C	CFHR4	c.699G>C	NM_001201550.2	NP_001188479.1:p.(Trp233Cys)	NC_000001.10:g.196876528G>C	(Likely) benign	1 lab	df0063c7b8
1:36385149 AGO1 G>A	1	36385149	36385149	G	A	AGO1	c.2515G>A	NM_012199.5	NP_036331.1:p.(Ala839Thr)	NC_000001.10:g.36385149G>A	VUS	1 lab	df0070fe23
12:58025156 B4GALNT1 G>T	12	58025156	58025156	G	T	B4GALNT1	c.219-9C>A	NM_001478.5	NP_001469.1:p.?	NC_000012.11:g.58025156G>T	VUS	1 lab	045f2cc0cc
X:153296374 MECP2 G>A	X	153296374	153296374	G	A	MECP2	c.905C>T	NM_004992.4	NP_004983.1:p.(Pro302Leu)	NC_000023.10:g.153296374G>A	(Likely) pathogenic	1 lab	df03511c44
X:107840709 COL4A5 G>T	X	107840709	107840709	G	T	COL4A5	c.1690G>T	NM_033380.3	NP_203699.1:p.(Gly564Cys)	NC_000023.10:g.107840709G>T	(Likely) pathogenic	1 lab	df05324a48
16:23619215 PALB2 A>G	16	23619215	23619215	A	G	PALB2	c.3320T>C	NM_024675.3	NP_078951.2:p.(Leu1107Pro)	NC_000016.9:g.23619215A>G	(Likely) benign	1 lab	df07020ee2
2:127821207 BIN1 G>A	2	127821207	127821207	G	A	BIN1				NC_000002.11:g.127821207G>A	(Likely) benign	1 lab	df095160e7
19:7163214 INSR T>C	19	7163214	7163214	T	C	INSR	c.1862-4A>G	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7163214T>C	(Likely) benign	1 lab	13c008d93a
20:62121820 EEF1A2 G>A	20	62121820	62121820	G	A	EEF1A2				NC_000020.10:g.62121820G>A	(Likely) benign	1 lab	df0bc69046
1:201022376 CACNA1S G>A	1	201022376	201022376	G	A	CACNA1S	c.3822C>T	NM_000069.2	NP_000060.2:p.(Ile1274=)	NC_000001.10:g.201022376G>A	(Likely) benign	1 lab	df0e514fb8
10:69966508 MYPN A>T	10	69966508	69966508	A	T	MYPN	c.3660-19A>T	NM_032578.3	NP_115967.2:p.?	NC_000010.10:g.69966508A>T	(Likely) benign	1 lab	df0ee2511d
11:108139106 ATM C>G	11	108139106	108139106	C	G	ATM	c.2639-31C>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108139106C>G	(Likely) benign	1 lab	df0f70e219
10:104353411 SUFU G>T	10	104353411	104353411	G	T	SUFU	c.616G>T	NM_016169.3	NP_057253.2:p.(Glu206Ter)	NC_000010.10:g.104353411G>T	(Likely) pathogenic	1 lab	df16f99e9c
17:26696867 VTN G>A	17	26696867	26696867	G	A	VTN	c.190C>T	NM_000638.4	NP_000629.3:p.(Arg64Cys)	NC_000017.10:g.26696867G>A	VUS	1 lab	df1a1b3914
X:18660191 RS1 G>C	X	18660191	18660191	G	C	RS1	c.608C>G	NM_000330.3	NP_000321.1:p.(Pro203Arg)	NC_000023.10:g.18660191G>C	(Likely) pathogenic	1 lab	df1b351484
3:39229462 XIRP1 C>T	3	39229462	39229462	C	T	XIRP1	c.1475G>A	NM_194293.4	NP_919269.2:p.(Arg492His)	NC_000003.11:g.39229462C>T	(Likely) benign	1 lab	15dfb36bd6
14:77715170 TMEM63C G>A	14	77715170	77715170	G	A	TMEM63C	c.1825G>A	NM_020431.4	NP_065164.2:p.(Val609Met)	NC_000014.8:g.77715170G>A	VUS	1 lab	df1c471e38
16:9928084 GRIN2A G>C	16	9928084	9928084	G	C	GRIN2A	c.1655C>G	NM_000833.3	NP_000824.1:p.(Pro552Arg)	NC_000016.9:g.9928084G>C	(Likely) pathogenic	1 lab	df1ced9e7c
7:92077202 GATAD1 G>A	7	92077202	92077202	G	A	GATAD1				NC_000007.13:g.92077202G>A	(Likely) benign	1 lab	df1d2046d8
12:112891061 PTPN11 A>G	12	112891061	112891061	A	G	PTPN11	c.395A>G	NM_002834.5	NP_002825.3:p.(His132Arg)	NC_000012.11:g.112891061A>G	VUS	1 lab	13c09ec613
7:155599065 SHH G>A	7	155599065	155599065	G	A	SHH	c.487C>T	NM_000193.4	NP_000184.1:p.(Arg163Cys)	NC_000007.13:g.155599065G>A	VUS	1 lab	df1fde70eb
19:42753440 ERF A>G	19	42753440	42753440	A	G	ERF	c.824T>C	NM_006494.4	NP_006485.2:p.(Leu275Pro)	NC_000019.9:g.42753440A>G	VUS	1 lab	df2192e5b2
7:117232155 CFTR T>C	7	117232155	117232155	T	C	CFTR	c.1934T>C	NM_000492.3	NP_000483.3:p.(Met645Thr)	NC_000007.13:g.117232155T>C	(Likely) benign	1 lab	df22ae73dc
10:112581534 RBM20 G>T	10	112581534	112581534	G	T	RBM20	c.3157G>T	NM_001134363.3	NP_001127835.2:p.(Glu1053Ter)	NC_000010.10:g.112581534G>T	VUS	1 lab	df291ff0e9
X:591050 SHOX C>G	X	591050	591050	C	G	SHOX	c.-432-151C>G	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.591050C>G	(Likely) benign	1 lab	df2956a983
3:46899516 MYL3 C>T	3	46899516	46899516	C	T	MYL3	c.*89G>A	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899516C>T	(Likely) benign	1 lab	df2ba02667
3:38645517 SCN5A G>A	3	38645517	38645517	G	A	SCN5A	c.1576C>T	NM_198056.2	NP_932173.1:p.(Arg526Cys)	NC_000003.11:g.38645517G>A	VUS	1 lab	df2fb6190c
2:191851706 STAT1 C>A	2	191851706	191851706	C	A	STAT1	c.1128-33G>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191851706C>A	(Likely) benign	1 lab	df33e43013
8:63978594 TTPA C>T	8	63978594	63978594	C	T	TTPA	c.421G>A	NM_000370.3	NP_000361.1:p.(Glu141Lys)	NC_000008.10:g.63978594C>T	(Likely) pathogenic	1 lab	df39f777e7
X:70443959 GJB1 C>G	X	70443959	70443959	C	G	GJB1	c.402C>G	NM_000166.6	NP_000157.1:p.(Thr134=)	NC_000023.10:g.70443959C>G	(Likely) benign	1 lab	df3b31115d
7:50530993 DDC A>C	7	50530993	50530993	A	C	DDC	c.1379T>G	NM_000790.3	NP_000781.1:p.(Val460Gly)	NC_000007.13:g.50530993A>C	(Likely) pathogenic	1 lab	df3bfafa32
12:48367186 COL2A1 G>A	12	48367186	48367186	G	A	COL2A1	c.*4C>T	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48367186G>A	(Likely) benign	1 lab	df40695acd
6:66112400 EYS A>T	6	66112400	66112400	A	T	EYS	c.1155T>A	NM_001142800.1	NP_001136272.1:p.(Cys385Ter)	NC_000006.11:g.66112400A>T	(Likely) pathogenic	1 lab	df4258191b
15:93563370 CHD2 C>T	15	93563370	93563370	C	T	CHD2	c.5035C>T	NM_001271.4	NP_001262.3:p.(Arg1679Ter)	NC_000015.9:g.93563370C>T	(Likely) pathogenic	1 lab	15e05ef648
15:37188863 MEIS2 T>C	15	37188863	37188863	T	C	MEIS2	c.1002A>G	NM_170675.5	NP_733775.1:p.(Ile334Met)	NC_000015.9:g.37188863T>C	(Likely) pathogenic	1 lab	df4555eb0c
X:136648984 ZIC3 A>ACGCCGC	X	136648984	136649011	A	ACGCCGC	ZIC3	c.156_161dup	NM_003413.3	NP_003404.1:p.(Ala54_Ala55dup)	NC_000023.10:g.136649006_136649011dup	VUS	1 lab	df46b4682c
6:64791868 EYS T>C	6	64791868	64791868	T	C	EYS	c.6452A>G	NM_001142800.1	NP_001136272.1:p.(Asn2151Ser)	NC_000006.11:g.64791868T>C	(Likely) benign	1 lab	df48c602df
16:23200995 SCNN1G A>C	16	23200995	23200995	A	C	SCNN1G	c.618+3A>C	NM_001039.4	NP_001030.2:p.?	NC_000016.9:g.23200995A>C	VUS	1 lab	13c1539341
1:94528236 ABCA4 G>A	1	94528236	94528236	G	A	ABCA4	c.1834C>T	NM_000350.2	NP_000341.2:p.(Gln612Ter)	NC_000001.10:g.94528236G>A	(Likely) pathogenic	1 lab	df4d78d7a1
16:21756236 OTOA A>G	16	21756236	21756236	A	G	OTOA	c.2654A>G	NM_144672.3	NP_653273.3:p.(His885Arg)	NC_000016.9:g.21756236A>G	VUS	1 lab	df4e0fd376
2:109384665 RANBP2 A>G	2	109384665	109384665	A	G	RANBP2	c.7670A>G	NM_006267.4	NP_006258.3:p.(Asn2557Ser)	NC_000002.11:g.109384665A>G	(Likely) benign	1 lab	15e25ce7e3
12:57970085 KIF5A G>T	12	57970085	57970085	G	T	KIF5A	c.2122G>T	NM_004984.2	NP_004975.2:p.(Glu708Ter)	NC_000012.11:g.57970085G>T	VUS	1 lab	df4e6b8976
5:39119081 FYB1 T>C	5	39119081	39119081	T	C	FYB1	c.2296A>G	NM_001465.6	NP_001456.3:p.(Lys766Glu)	NC_000005.9:g.39119081T>C	VUS	1 lab	df4edf6abe
11:2185575 TH G>A	11	2185575	2185575	G	A	TH	c.1475C>T	NM_199292.2	NP_954986.2:p.(Pro492Leu)	NC_000011.9:g.2185575G>A	(Likely) pathogenic	1 lab	df522d591a
6:32008896 CYP21A2 G>A	6	32008896	32008896	G	A	CYP21A2	c.1473G>A	NM_000500.9	NP_000491.4:p.(Pro491=)	NC_000006.11:g.32008896G>A	(Likely) benign	1 lab	df55c893ba
7:2985586 CARD11 C>G	7	2985586	2985586	C	G	CARD11	c.225G>C	NM_032415.5	NP_115791.3:p.(Arg75=)	NC_000007.13:g.2985586C>G	(Likely) benign	1 lab	df583d868f
7:83634713 SEMA3A A>G	7	83634713	83634713	A	G	SEMA3A	c.1302T>C	NM_006080.2	NP_006071.1:p.(Ile434=)	NC_000007.13:g.83634713A>G	(Likely) benign	1 lab	df5864bff1
2:47657006 MSH2 T>TAA	2	47657006	47657008	T	TAA	MSH2	c.1203_1204insAA	NM_000251.3	NP_000242.1:p.(Gln402AsnfsTer11)	NC_000002.11:g.47657007_47657008insAA	(Likely) pathogenic	1 lab	df5b979f9f
5:14711295 ANKH C>T	5	14711295	14711295	C	T	ANKH	c.*11G>A	NM_054027.4	NP_473368.1:p.?	NC_000005.9:g.14711295C>T	(Likely) benign	1 lab	df5cd2c142
2:167298016 SCN7A G>A	2	167298016	167298016	G	A	SCN7A	c.2047C>T	NM_002976.3	NP_002967.2:p.(Arg683Ter)	NC_000002.11:g.167298016G>A	VUS	1 lab	df5e960a87
X:25028384 ARX C>T	X	25028384	25028384	C	T	ARX	c.1112G>A	NM_139058.2	NP_620689.1:p.(Arg371Gln)	NC_000023.10:g.25028384C>T	(Likely) pathogenic	1 lab	df5eb354a9
11:108138108 ATM T>G	11	108138108	108138108	T	G	ATM	c.2638+39T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108138108T>G	(Likely) benign	1 lab	df606ebe99
14:75365084 DLST G>A	14	75365084	75365084	G	A	DLST	c.783G>A	NM_001933.5	NP_001924.2:p.(Glu261=)	NC_000014.8:g.75365084G>A	(Likely) benign	1 lab	df63385684
1:236899006 ACTN2 G>C	1	236899006	236899006	G	C	ACTN2	c.769G>C	NM_001103.3	NP_001094.1:p.(Ala257Pro)	NC_000001.10:g.236899006G>C	VUS	1 lab	df63528ca3
17:79479299 ACTG1 G>C	17	79479299	79479299	G	C	ACTG1	c.82C>G	NM_001614.3	NP_001605.1:p.(Arg28Gly)	NC_000017.10:g.79479299G>C	(Likely) benign	1 lab	df662ddf2c
16:1259042 CACNA1H G>A	16	1259042	1259042	G	A	CACNA1H	c.3374G>A	NM_021098.3	NP_066921.2:p.(Arg1125Gln)	NC_000016.9:g.1259042G>A	(Likely) benign	1 lab	15e81cf5af
19:17945379 JAK3 C>A	19	17945379	17945379	C	A	JAK3	c.2350+1G>T	NM_000215.4	NP_000206.2:p.?	NC_000019.9:g.17945379C>A	(Likely) pathogenic	1 lab	df691e8696
9:137619230 COL5A1 A>G	9	137619230	137619230	A	G	COL5A1	c.773A>G	NM_000093.4	NP_000084.3:p.(Asn258Ser)	NC_000009.11:g.137619230A>G	(Likely) benign	1 lab	15e98329b1
2:210678443 UNC80 C>T	2	210678443	210678443	C	T	UNC80	c.1078C>T	NM_032504.1	NP_115893.1:p.(Arg360Ter)	NC_000002.11:g.210678443C>T	VUS	1 lab	df707c41aa
15:80412754 MISSING A>G	15	80412754	80412754	A	G	MISSING				NC_000015.9:g.80412754A>G	VUS	1 lab	df80d1eb15
16:23614964 PALB2 T>G	16	23614964	23614964	T	G	PALB2	c.3377A>C	NM_024675.3	NP_078951.2:p.(His1126Pro)	NC_000016.9:g.23614964T>G	(Likely) benign	1 lab	df72666568
2:242617851 DTYMK A>G	2	242617851	242617851	A	G	DTYMK	c.528+16T>C	NM_012145.3	NP_036277.2:p.?	NC_000002.11:g.242617851A>G	(Likely) benign	1 lab	df73472204
19:12821501 TNPO2 G>A	19	12821501	12821501	G	A	TNPO2	c.1204C>T	NM_001382241.1	NP_001369170.1:p.(Leu402Phe)	NC_000019.9:g.12821501G>A	(Likely) benign	1 lab	df73c6ecb6
2:220434954 OBSL1 A>G	2	220434954	220434954	A	G	OBSL1	c.1001T>C	NM_015311.3	NP_056126.1:p.(Leu334Pro)	NC_000002.11:g.220434954A>G	VUS	1 lab	df74e6dccc
4:15982094 PROM1 T>C	4	15982094	15982094	T	C	PROM1	c.2440A>G	NM_006017.2	NP_006008.1:p.(Lys814Glu)	NC_000004.11:g.15982094T>C	(Likely) benign	1 lab	df765e6626
8:61754219 CHD7 C>T	8	61754219	61754219	C	T	CHD7	c.4550C>T	NM_017780.3	NP_060250.2:p.(Ser1517Phe)	NC_000008.10:g.61754219C>T	VUS	1 lab	df776e1a71
16:89592622 SPG7 C>T	16	89592622	89592622	C	T	SPG7	c.619-115C>T	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89592622C>T	(Likely) benign	1 lab	15ee104df0
16:30992132 SETD1A AT>A	16	30992132	30992133	AT	A	SETD1A	c.4655del	NM_014712.3	NP_055527.1:p.(Ile1552ThrfsTer7)	NC_000016.9:g.30992133del	(Likely) pathogenic	1 lab	df79001839
1:94496622 ABCA4 G>A	1	94496622	94496622	G	A	ABCA4	c.4183C>T	NM_000350.2	NP_000341.2:p.(Pro1395Ser)	NC_000001.10:g.94496622G>A	VUS	1 lab	df798624c0
17:57721839 CLTC T>C	17	57721839	57721839	T	C	CLTC	c.245T>C	NM_004859.4	NP_004850.1:p.(Leu82Pro)	NC_000017.10:g.57721839T>C	VUS	1 lab	df79ada061
10:21098826 NEBL G>A	10	21098826	21098826	G	A	NEBL	c.2520C>T	NM_006393.2	NP_006384.1:p.(Asp840=)	NC_000010.10:g.21098826G>A	(Likely) benign	1 lab	df7bb3c33c
5:112175513 APC G>T	5	112175513	112175513	G	T	APC	c.4222G>T	NM_000038.6	NP_000029.2:p.(Glu1408Ter)	NC_000005.9:g.112175513G>T	(Likely) pathogenic	1 lab	df7ef617f4
2:179489288 TTN T>C	2	179489288	179489288	T	C	TTN	c.44719A>G	NM_001267550.2	NP_001254479.2:p.(Arg14907Gly)	NC_000002.11:g.179489288T>C	VUS	1 lab	df7f561ecf
3:38521283 ACVR2B C>T	3	38521283	38521283	C	T	ACVR2B	c.925C>T	NM_001106.3	NP_001097.2:p.(Arg309Cys)	NC_000003.11:g.38521283C>T	VUS	1 lab	df81ee7d64
11:108150177 ATM T>C	11	108150177	108150177	T	C	ATM	c.3285-41T>C	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108150177T>C	(Likely) benign	1 lab	df825c1c61
X:53586493 HUWE1 C>G	X	53586493	53586493	C	G	HUWE1	c.7737G>C	NM_031407.6	NP_113584.3:p.(Arg2579Ser)	NC_000023.10:g.53586493C>G	(Likely) pathogenic	1 lab	df836fc70d
7:151573549 PRKAG2 G>A	7	151573549	151573549	G	A	PRKAG2	c.114+43C>T	NM_016203.3	NP_057287.2:p.?	NC_000007.13:g.151573549G>A	(Likely) benign	1 lab	df83ae1fc7
3:58124200 FLNB G>A	3	58124200	58124200	G	A	FLNB	c.5146G>A	NM_001164317.1	NP_001157789.1:p.(Val1716Met)	NC_000003.11:g.58124200G>A	VUS	1 lab	df8406341e
15:89864150 POLG C>T	15	89864150	89864150	C	T	POLG	c.2828G>A	NM_002693.3	NP_002684.1:p.(Arg943His)	NC_000015.9:g.89864150C>T	(Likely) pathogenic	1 lab	df84cc8b57
13:20767104 GJB2 A>C	13	20767104	20767104	A	C	GJB2	c.-205T>G	NM_004004.5	NP_003995.2:p.?	NC_000013.10:g.20767104A>C	(Likely) benign	1 lab	df870b998b
3:10191610 VHL GAC>G	3	10191610	10191615	GAC	G	VHL	c.607_608del	NM_000551.3	NP_000542.1:p.(Gln203GlyfsTer52)	NC_000003.11:g.10191614_10191615del	(Likely) pathogenic	1 lab	df87fab6c9
6:129807757 LAMA2 C>T	6	129807757	129807757	C	T	LAMA2	c.7888C>T	NM_000426.3	NP_000417.2:p.(Arg2630Ter)	NC_000006.11:g.129807757C>T	(Likely) pathogenic	1 lab	df883eee43
3:38812784 SCN10A G>A	3	38812784	38812784	G	A	SCN10A	c.585C>T	NM_006514.3	NP_006505.3:p.(Ser195=)	NC_000003.11:g.38812784G>A	(Likely) benign	1 lab	df884b9094
1:94578619 ABCA4 G>A	1	94578619	94578619	G	A	ABCA4	c.70C>T	NM_000350.2	NP_000341.2:p.(Arg24Cys)	NC_000001.10:g.94578619G>A	(Likely) pathogenic	1 lab	df8903ec5b
2:106015951 FHL2 C>A	2	106015951	106015951	C	A	FHL2	c.-297G>T	NM_001318894.1	NP_001305823.1:p.?	NC_000002.11:g.106015951C>A	VUS	1 lab	df8cd179fd
16:23619238 PALB2 C>T	16	23619238	23619238	C	T	PALB2	c.3297G>A	NM_024675.3	NP_078951.2:p.(Thr1099=)	NC_000016.9:g.23619238C>T	(Likely) benign	1 lab	df8e7b9951
3:24003521 NR1D2 A>G	3	24003521	24003521	A	G	NR1D2	c.571A>G	NM_005126.5	NP_005117.3:p.(Met191Val)	NC_000003.11:g.24003521A>G	VUS	1 lab	13c86250fd
1:228543869 OBSCN A>G	1	228543869	228543869	A	G	OBSCN	c.18679A>G	NM_052843.3	NP_443075.3:p.(Lys6227Glu)	NC_000001.10:g.228543869A>G	(Likely) benign	1 lab	df93bb90fb
21:47422265 COL6A1 A>G	21	47422265	47422265	A	G	COL6A1	c.2200A>G	NM_001848.2	NP_001839.2:p.(Thr734Ala)	NC_000021.8:g.47422265A>G	VUS	1 lab	df94337164
2:73799976 ALMS1 C>T	2	73799976	73799976	C	T	ALMS1	c.10975C>T	NM_015120.4	NP_055935.4:p.(Arg3659Ter)	NC_000002.11:g.73799976C>T	(Likely) pathogenic	1 lab	df94d2bbcc
3:121994869 CASR T>C	3	121994869	121994869	T	C	CASR	c.1588T>C	NM_000388.4	NP_000379.3:p.(Trp530Arg)	NC_000003.11:g.121994869T>C	(Likely) pathogenic	1 lab	df97cecec1
1:227172602 COQ8A C>T	1	227172602	227172602	C	T	COQ8A	c.1532C>T	NM_020247.4	NP_064632.2:p.(Thr511Met)	NC_000001.10:g.227172602C>T	VUS	1 lab	df9998d5f2
16:3705450 DNASE1 G>A	16	3705450	3705450	G	A	DNASE1	c.76G>A	NM_005223.4	NP_005214.2:p.(Ala26Thr)	NC_000016.9:g.3705450G>A	(Likely) benign	1 lab	13cb273517
10:123274734 FGFR2 A>T	10	123274734	123274734	A	T	FGFR2	c.1184T>A	NM_000141.5	NP_000132.3:p.(Val395Asp)	NC_000010.10:g.123274734A>T	(Likely) pathogenic	1 lab	df9ab0a63e
X:69176986 EDA A>G	X	69176986	69176986	A	G	EDA	c.502+4A>G	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69176986A>G	(Likely) benign	1 lab	13cb2b1138
20:3063785 AVP C>G	20	3063785	3063785	C	G	AVP	c.160G>C	NM_000490.5	NP_000481.2:p.(Gly54Arg)	NC_000020.10:g.3063785C>G	(Likely) pathogenic	1 lab	df9b9038bb
17:7097008 DLG4 G>C	17	7097008	7097008	G	C	DLG4	c.1569C>G	NM_001321075.3	NP_001308004.1:p.(Tyr523Ter)	NC_000017.10:g.7097008G>C	(Likely) pathogenic	1 lab	df9be0e69c
17:74475090 RHBDF2 A>G	17	74475090	74475090	A	G	RHBDF2				NC_000017.10:g.74475090A>G	(Likely) pathogenic	1 lab	df9c9bb363
22:38373970 SOX10 C>G	22	38373970	38373970	C	G	SOX10	c.601G>C	NM_006941.4	NP_008872.1:p.(Ala201Pro)	NC_000022.10:g.38373970C>G	VUS	1 lab	dfa4453e22
2:47613826 EPCAM G>A	2	47613826	47613826	G	A	EPCAM	c.*74G>A	NM_002354.3	NP_002345.2:p.?	NC_000002.11:g.47613826G>A	(Likely) benign	1 lab	dfa5a1f52a
20:47990100 KCNB1 G>A	20	47990100	47990100	G	A	KCNB1	c.1997C>T	NM_004975.2	NP_004966.1:p.(Pro666Leu)	NC_000020.10:g.47990100G>A	VUS	1 lab	dfa6aacef2
5:176722077 NSD1 C>T	5	176722077	176722077	C	T	NSD1	c.7708C>T	NM_022455.4	NP_071900.2:p.(Leu2570Phe)	NC_000005.9:g.176722077C>T	(Likely) benign	1 lab	dfa86fbe54
19:46056972 OPA3 CCTCCTCCTTGTGGCGCTG>C	19	46056972	46056992	CCTCCTCCTTGTGGCGCTG	C	OPA3	c.322_339del	NM_025136.3	NP_079412.1:p.(Gln108_Glu113del)	NC_000019.9:g.46056975_46056992del	(Likely) pathogenic	1 lab	dfa9d56c12
12:2602543 CACNA1C G>A	12	2602543	2602543	G	A	CACNA1C	c.1104G>A	NM_199460.3	NP_955630.3:p.(Val368=)	NC_000012.11:g.2602543G>A	(Likely) benign	1 lab	dfab23a8ed
20:8698300 PLCB1 G>A	20	8698300	8698300	G	A	PLCB1	c.1336-18G>A	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8698300G>A	(Likely) benign	1 lab	15f628cfcc
22:42607422 TCF20 T>C	22	42607422	42607422	T	C	TCF20	c.3890A>G	NM_005650.4	NP_005641.1:p.(Asn1297Ser)	NC_000022.10:g.42607422T>C	(Likely) benign	1 lab	13cb69f182
16:85694747 GSE1 C>T	16	85694747	85694747	C	T	GSE1	c.1329-5C>T	NM_001134473.3	NP_001127945.1:p.?	NC_000016.9:g.85694747C>T	(Likely) benign	1 lab	13ce4b8b8a
16:3779490 CREBBP T>G	16	3779490	3779490	T	G	CREBBP				NC_000016.9:g.3779490T>G	VUS	1 lab	dfb021c1e0
X:107808520 COL4A5 A>G	X	107808520	107808520	A	G	COL4A5	c.276+1364A>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107808520A>G	(Likely) pathogenic	1 lab	dfb19e1764
6:35426215 FANCE C>T	6	35426215	35426215	C	T	FANCE	c.1111C>T	NM_021922.2	NP_068741.1:p.(Arg371Trp)	NC_000006.11:g.35426215C>T	(Likely) pathogenic	1 lab	dfb677bbff
2:166211154 SCN2A C>T	2	166211154	166211154	C	T	SCN2A	c.3372C>T	NM_001040142.2	NP_001035232.1:p.(Ser1124=)	NC_000002.11:g.166211154C>T	(Likely) benign	1 lab	15f8731dc5
X:154065893 F8 G>C	X	154065893	154065893	G	C	F8	c.7035C>G	NM_000132.3	NP_000123.1:p.(Cys2345Trp)	NC_000023.10:g.154065893G>C	(Likely) pathogenic	1 lab	15f93d58c8
13:52548779 ATP7B G>A	13	52548779	52548779	G	A	ATP7B	c.577C>T	NM_000053.4	NP_000044.2:p.(Gln193Ter)	NC_000013.10:g.52548779G>A	(Likely) pathogenic	1 lab	15fa488595
10:26462790 MYO3A G>A	10	26462790	26462790	G	A	MYO3A	c.3597G>A	NM_017433.4	NP_059129.3:p.(Glu1199=)	NC_000010.10:g.26462790G>A	(Likely) benign	1 lab	dfbe90c35a
15:67482748 SMAD3 C>G	15	67482748	67482748	C	G	SMAD3	c.1155-3C>G	NM_005902.3	NP_005893.1:p.?	NC_000015.9:g.67482748C>G	(Likely) pathogenic	1 lab	dfbfac2391
5:140025252 NDUFA2 CTT>C	5	140025252	140025254	CTT	C	NDUFA2	c.218_219del	NM_002488.5	NP_002479.1:p.(Gln73ArgfsTer12)	NC_000005.9:g.140025253_140025254del	(Likely) pathogenic	1 lab	13d2fcecd6
5:38884043 OSMR C>A	5	38884043	38884043	C	A	OSMR	c.533C>A	NM_003999.3	NP_003990.1:p.(Ser178Tyr)	NC_000005.9:g.38884043C>A	VUS	1 lab	13d3d498d8
22:50547272 MOV10L1 C>T	22	50547272	50547272	C	T	MOV10L1	c.742C>T	NM_018995.3	NP_061868.1:p.(Arg248Ter)	NC_000022.10:g.50547272C>T	(Likely) pathogenic	1 lab	dfc71651cc
2:1926366 MYT1L C>T	2	1926366	1926366	C	T	MYT1L	c.1175G>A	NM_015025.2	NP_055840.2:p.(Arg392Gln)	NC_000002.11:g.1926366C>T	VUS	1 lab	dfcaf7805c
11:119103156 CBL A>T	11	119103156	119103156	A	T	CBL	c.196-2A>T	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119103156A>T	VUS	1 lab	dfccdcc827
X:48118063 SSX1 C>T	X	48118063	48118063	C	T	SSX1	c.277C>T	NM_005635.4	NP_005626.1:p.(Gln93Ter)	NC_000023.10:g.48118063C>T	VUS	1 lab	dfcde46dc0
22:51064461 ARSA T>A	22	51064461	51064461	T	A	ARSA	c.1010A>T	NM_000487.6	NP_000478.3:p.(Asp337Val)	NC_000022.10:g.51064461T>A	(Likely) pathogenic	1 lab	15ffce1ff0
1:120459134 NOTCH2 G>A	1	120459134	120459134	G	A	NOTCH2	c.6211C>T	NM_024408.4	NP_077719.2:p.(Pro2071Ser)	NC_000001.10:g.120459134G>A	VUS	1 lab	16014a03f2
17:6607392 SLC13A5 G>A	17	6607392	6607392	G	A	SLC13A5	c.369-17C>T	NM_177550.4	NP_808218.1:p.?	NC_000017.10:g.6607392G>A	(Likely) benign	1 lab	160155c373
12:48386687 COL2A1 C>T	12	48386687	48386687	C	T	COL2A1	c.997G>A	NM_001844.4	NP_001835.3:p.(Gly333Arg)	NC_000012.11:g.48386687C>T	(Likely) pathogenic	1 lab	dfd5f51855
2:170090091 LRP2 C>T	2	170090091	170090091	C	T	LRP2	c.4928G>A	NM_004525.3	NP_004516.2:p.(Arg1643Gln)	NC_000002.11:g.170090091C>T	(Likely) benign	1 lab	13d9f091b3
8:41798918 KAT6A A>AT	8	41798918	41798919	A	AT	KAT6A	c.2480dup	NM_006766.4	NP_006757.2:p.(Tyr827Ter)	NC_000008.10:g.41798919dup	(Likely) pathogenic	1 lab	dfe2684b18
1:45798901 MUTYH C>T	1	45798901	45798901	C	T	MUTYH	c.388+56G>A	NM_001128425.1	NP_001121897.1:p.?	NC_000001.10:g.45798901C>T	(Likely) benign	1 lab	dfe42aeeca
3:38751076 SCN10A C>T	3	38751076	38751076	C	T	SCN10A	c.4174G>A	NM_006514.4	NP_006505.4:p.(Val1392Met)	NC_000003.11:g.38751076C>T	(Likely) benign	1 lab	dfe7a34e7a
13:113801730 F10 G>A	13	113801730	113801730	G	A	F10	c.785G>A	NM_000504.3	NP_000495.1:p.(Gly262Asp)	NC_000013.10:g.113801730G>A	(Likely) pathogenic	1 lab	dfeb4d3d53
2:73679866 MISSING T>C	2	73679866	73679866	T	C	MISSING				NC_000002.11:g.73679866T>C	(Likely) benign	1 lab	dfec4b580d
7:100421830 EPHB4 C>T	7	100421830	100421830	C	T	EPHB4	c.118G>A	NM_004444.5	NP_004435.3:p.(Gly40Arg)	NC_000007.13:g.100421830C>T	VUS	1 lab	13e57c0dbc
11:823585 PNPLA2 A>T	11	823585	823585	A	T	PNPLA2	c.755A>T	NM_020376.3	NP_065109.1:p.(Asn252Ile)	NC_000011.9:g.823585A>T	VUS	1 lab	dfee68de5e
5:40964885 C7 A>T	5	40964885	40964885	A	T	C7	c.1792A>T	NM_000587.4	NP_000578.2:p.(Thr598Ser)	NC_000005.9:g.40964885A>T	(Likely) benign	1 lab	dff36b3974
6:152631140 SYNE1 C>T	6	152631140	152631140	C	T	SYNE1	c.17032G>A	NM_182961.3	NP_892006.3:p.(Glu5678Lys)	NC_000006.11:g.152631140C>T	(Likely) benign	1 lab	dff46dc7ff
15:48726872 FBN1 C>T	15	48726872	48726872	C	T	FBN1	c.6535G>A	NM_000138.5	NP_000129.3:p.(Gly2179Arg)	NC_000015.9:g.48726872C>T	VUS	1 lab	dff665c3fd
3:43663472 ANO10 A>G	3	43663472	43663472	A	G	ANO10	c.-83T>C	NM_018075.3	NP_060545.3:p.?	NC_000003.11:g.43663472A>G	(Likely) benign	1 lab	e022e224be
16:89211763 ACSF3 C>T	16	89211763	89211763	C	T	ACSF3	c.1455C>T	NM_001243279.3	NP_001230208.1:p.(Ser485=)	NC_000016.9:g.89211763C>T	(Likely) pathogenic	1 lab	dff6facbcc
8:61654595 CHD7 C>T	8	61654595	61654595	C	T	CHD7				NC_000008.10:g.61654595C>T	(Likely) pathogenic	1 lab	dff978e722
16:29810615 KIF22 C>T	16	29810615	29810615	C	T	KIF22	c.790C>T	NM_007317.2	NP_015556.1:p.(Arg264Cys)	NC_000016.9:g.29810615C>T	VUS	1 lab	dffb2806e1
8:15397942 TUSC3 G>A	8	15397942	15397942	G	A	TUSC3	c.3G>A	NM_001356429.1	NP_001343358.1:p.(Met1?)	NC_000008.10:g.15397942G>A	(Likely) pathogenic	1 lab	dffc52b246
21:47532260 COL6A2 C>T	21	47532260	47532260	C	T	COL6A2	c.483C>T	NM_001849.3	NP_001840.3:p.(Thr161=)	NC_000021.8:g.47532260C>T	(Likely) benign	1 lab	dffd38dd53
4:153332525 FBXW7 G>A	4	153332525	153332525	G	A	FBXW7	c.431C>T	NM_033632.3	NP_361014.1:p.(Thr144Met)	NC_000004.11:g.153332525G>A	(Likely) benign	1 lab	13e7e7e98e
22:19748814 TBX1 C>T	22	19748814	19748814	C	T	TBX1	c.410+11C>T	NM_080647.1	NP_542378.1:p.?	NC_000022.10:g.19748814C>T	(Likely) benign	1 lab	1603259191
9:32543605 TOPORS AACTGTAAGTTCAC>A	9	32543605	32543618	AACTGTAAGTTCAC	A	TOPORS	c.905_917del	NM_005802.4	NP_005793.2:p.(Arg302LeufsTer9)	NC_000009.11:g.32543606_32543618del	(Likely) pathogenic	1 lab	e006888ba2
2:175612898 CHRNA1 A>G	2	175612898	175612898	A	G	CHRNA1	c.1403T>C	NM_001039523.2	NP_001034612.1:p.(Leu468Pro)	NC_000002.11:g.175612898A>G	VUS	1 lab	e006eef629
17:41244132 BRCA1 C>A	17	41244132	41244132	C	A	BRCA1				NC_000017.10:g.41244132C>A	(Likely) benign	1 lab	e1959578e9
16:56947205 SLC12A3 G>A	16	56947205	56947205	G	A	SLC12A3	c.2981G>A	NM_000339.2	NP_000330.2:p.(Cys994Tyr)	NC_000016.9:g.56947205G>A	(Likely) pathogenic	1 lab	e00827e895
11:47364260 MYBPC3 G>A	11	47364260	47364260	G	A	MYBPC3	c.1493C>T	NM_000256.3	NP_000247.2:p.(Thr498Ile)	NC_000011.9:g.47364260G>A	VUS	1 lab	e00ab1dfa3
12:48378780 COL2A1 TG>T	12	48378780	48378782	TG	T	COL2A1	c.1830del	NM_001844.4	NP_001835.3:p.(Asn611ThrfsTer18)	NC_000012.11:g.48378782del	(Likely) pathogenic	1 lab	e00b4e8c88
1:19652020 SLC66A1 A>C	1	19652020	19652020	A	C	SLC66A1	c.326A>C	NM_001040125.2	NP_001035214.1:p.(Asp109Ala)	NC_000001.10:g.19652020A>C	VUS	1 lab	e00dee6bc6
12:6128739 VWF A>G	12	6128739	6128739	A	G	VWF	c.3845T>C	NM_000552.3	NP_000543.2:p.(Leu1282Pro)	NC_000012.11:g.6128739A>G	(Likely) pathogenic	1 lab	e00e21cac7
8:125072426 FER1L6 T>C	8	125072426	125072426	T	C	FER1L6	c.2880T>C	NM_001039112.2	NP_001034201.2:p.(Pro960=)	NC_000008.10:g.125072426T>C	(Likely) benign	1 lab	e0139b2716
2:241684870 KIF1A G>C	2	241684870	241684870	G	C	KIF1A	c.3439C>G	NM_001244008.1	NP_001230937.1:p.(Pro1147Ala)	NC_000002.11:g.241684870G>C	(Likely) benign	1 lab	e0172dffed
1:197398744 CRB1 T>A	1	197398744	197398744	T	A	CRB1	c.2842T>A	NM_201253.2	NP_957705.1:p.(Cys948Ser)	NC_000001.10:g.197398744T>A	VUS	1 lab	e018fd1c9d
17:7578535 TP53 T>C	17	7578535	7578535	T	C	TP53	c.395A>G	NM_000546.5	NP_000537.3:p.(Lys132Arg)	NC_000017.10:g.7578535T>C	(Likely) pathogenic	1 lab	e01acc9780
2:179438372 TTN G>T	2	179438372	179438372	G	T	TTN	c.72487C>A	NM_001267550.2	NP_001254479.2:p.(Arg24163Ser)	NC_000002.11:g.179438372G>T	VUS	1 lab	e01c367087
2:219824834 MISSING C>T	2	219824834	219824834	C	T	MISSING				NC_000002.11:g.219824834C>T	VUS	1 lab	e01ea1d993
20:42788655 JPH2 T>C	20	42788655	42788655	T	C	JPH2	c.772A>G	NM_020433.4	NP_065166.2:p.(Ser258Gly)	NC_000020.10:g.42788655T>C	VUS	1 lab	e020403e85
3:49699168 BSN A>G	3	49699168	49699168	A	G	BSN	c.9890A>G	NM_003458.4	NP_003449.2:p.(Asp3297Gly)	NC_000003.11:g.49699168A>G	VUS	1 lab	13e9de37d9
11:120972112 TECTA T>C	11	120972112	120972112	T	C	TECTA				NC_000011.9:g.120972112T>C	(Likely) benign	1 lab	e0fccd12c0
11:2943671 SLC67A1 G>C	11	2943671	2943671	G	C	SLC67A1	c.972G>C	NM_183233.3	NP_899056.2:p.(Trp324Cys)	NC_000011.9:g.2943671G>C	(Likely) benign	1 lab	13ebac5999
5:112162799 APC A>G	5	112162799	112162799	A	G	APC	c.1409-6A>G	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112162799A>G	(Likely) pathogenic	1 lab	e0254f21f9
X:49083069 CACNA1F C>A	X	49083069	49083069	C	A	CACNA1F	c.1402+3G>T	NM_005183.3	NP_005174.2:p.?	NC_000023.10:g.49083069C>A	VUS	1 lab	e029cd7e69
15:66995553 SMAD6 C>T	15	66995553	66995553	C	T	SMAD6	c.-44C>T	NM_005585.4	NP_005576.3:p.?	NC_000015.9:g.66995553C>T	(Likely) benign	1 lab	e02a0102cc
13:32905174 BRCA2 C>T	13	32905174	32905174	C	T	BRCA2	c.793+7C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32905174C>T	(Likely) benign	1 lab	e02b1751ef
9:32488219 RIGI T>C	9	32488219	32488219	T	C	RIGI	c.954-18A>G	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32488219T>C	(Likely) benign	1 lab	1603d2974c
11:108236116 ATM A>G	11	108236116	108236116	A	G	ATM	c.9052A>G	NM_000051.3	NP_000042.3:p.(Lys3018Glu)	NC_000011.9:g.108236116A>G	(Likely) benign	1 lab	e0336bf009
X:21627582 CNKSR2 C>G	X	21627582	21627582	C	G	CNKSR2	c.2539C>G	NM_014927.5	NP_055742.2:p.(Leu847Val)	NC_000023.10:g.21627582C>G	VUS	1 lab	13ed95f95d
19:38981375 RYR1 A>G	19	38981375	38981375	A	G	RYR1	c.6127+3A>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.38981375A>G	(Likely) benign	1 lab	e034dba87d
3:193349415 OPA1 GAA>G	3	193349415	193349419	GAA	G	OPA1	c.642_643del	NM_015560.3	NP_056375.2:p.(Lys214AsnfsTer2)	NC_000003.11:g.193349418_193349419del	(Likely) pathogenic	1 lab	e03c19317c
16:56906320 SLC12A3 A>C	16	56906320	56906320	A	C	SLC12A3	c.910A>C	NM_000339.2	NP_000330.2:p.(Thr304Pro)	NC_000016.9:g.56906320A>C	(Likely) pathogenic	1 lab	e03d2baed0
4:187179210 KLKB1 T>C	4	187179210	187179210	T	C	KLKB1	c.1761T>C	NM_000892.5	NP_000883.2:p.(Asn587=)	NC_000004.11:g.187179210T>C	(Likely) benign	1 lab	13ee2c4f6e
1:215807920 USH2A A>G	1	215807920	215807920	A	G	USH2A	c.15178T>C	NM_206933.4	NP_996816.3:p.(Ser5060Pro)	NC_000001.10:g.215807920A>G	(Likely) pathogenic	1 lab	e03fd1730e
12:115110041 TBX3 C>G	12	115110041	115110041	C	G	TBX3	c.1837G>C	NM_016569.3	NP_057653.3:p.(Ala613Pro)	NC_000012.11:g.115110041C>G	VUS	1 lab	e042edfd3a
12:110032912 MVK C>G	12	110032912	110032912	C	G	MVK	c.965C>G	NM_000431.2	NP_000422.1:p.(Thr322Ser)	NC_000012.11:g.110032912C>G	(Likely) pathogenic	1 lab	16042ee187
2:99012748 CNGA3 C>T	2	99012748	99012748	C	T	CNGA3	c.1115C>T	NM_001298.2	NP_001289.1:p.(Pro372Leu)	NC_000002.11:g.99012748C>T	(Likely) pathogenic	1 lab	e0497f91b9
14:65240002 SPTB C>T	14	65240002	65240002	C	T	SPTB	c.5114G>A	NM_001024858.3	NP_001020029.1:p.(Trp1705Ter)	NC_000014.8:g.65240002C>T	(Likely) pathogenic	1 lab	16051853be
11:118352504 KMT2A G>C	11	118352504	118352504	G	C	KMT2A	c.3709G>C	NM_001197104.2	NP_001184033.1:p.(Val1237Leu)	NC_000011.9:g.118352504G>C	VUS	1 lab	13f1f1b394
19:41209460 COQ8B G>A	19	41209460	41209460	G	A	COQ8B	c.785C>T	NM_024876.3	NP_079152.3:p.(Ala262Val)	NC_000019.9:g.41209460G>A	(Likely) benign	1 lab	e04f8e2d55
22:32211157 DEPDC5 A>G	22	32211157	32211157	A	G	DEPDC5	c.1625A>G	NM_001242896.3	NP_001229825.1:p.(Gln542Arg)	NC_000022.10:g.32211157A>G	VUS	1 lab	e052df45f5
8:1719494 CLN8 C>T	8	1719494	1719494	C	T	CLN8	c.274C>T	NM_018941.3	NP_061764.2:p.(His92Tyr)	NC_000008.10:g.1719494C>T	(Likely) benign	1 lab	16060cf6db
16:23649399 PALB2 G>A	16	23649399	23649399	G	A	PALB2	c.100C>T	NM_024675.4	NP_078951.2:p.(Arg34Cys)	NC_000016.9:g.23649399G>A	VUS	1 lab	e056f3b9b7
X:8538658 ANOS1 C>T	X	8538658	8538658	C	T	ANOS1	c.944G>A	NM_000216.2	NP_000207.2:p.(Trp315Ter)	NC_000023.10:g.8538658C>T	(Likely) pathogenic	1 lab	e059a4f98b
1:237802359 RYR2 A>G	1	237802359	237802359	A	G	RYR2	c.6973A>G	NM_001035.3	NP_001026.2:p.(Ile2325Val)	NC_000001.10:g.237802359A>G	(Likely) pathogenic	1 lab	e05a0888dc
3:38912984 SCN11A T>C	3	38912984	38912984	T	C	SCN11A	c.3711A>G	NM_014139.2	NP_054858.2:p.(Lys1237=)	NC_000003.11:g.38912984T>C	(Likely) benign	1 lab	e05e1a5056
17:7576969 TP53 C>T	17	7576969	7576969	C	T	TP53	c.920-43G>A	NM_000546.5	NP_000537.3:p.?	NC_000017.10:g.7576969C>T	(Likely) benign	1 lab	e05f998ae0
3:189455681 TP63 T>C	3	189455681	189455681	T	C	TP63	c.191+24T>C	NM_003722.5	NP_003713.3:p.?	NC_000003.11:g.189455681T>C	(Likely) benign	1 lab	c537c4f207
11:76893633 MYO7A G>T	11	76893633	76893633	G	T	MYO7A	c.3273G>T	NM_000260.3	NP_000251.3:p.(Gln1091His)	NC_000011.9:g.76893633G>T	VUS	1 lab	e05fdd7473
2:32361662 SPAST C>G	2	32361662	32361662	C	G	SPAST	c.1276C>G	NM_014946.3	NP_055761.2:p.(Leu426Val)	NC_000002.11:g.32361662C>G	(Likely) pathogenic	1 lab	e06115f8ce
18:11066210 PIEZO2 G>A	18	11066210	11066210	G	A	PIEZO2	c.76C>T	NM_022068.3	NP_071351.2:p.(Arg26Ter)	NC_000018.9:g.11066210G>A	VUS	1 lab	e06157f355
2:99006184 CNGA3 G>T	2	99006184	99006184	G	T	CNGA3	c.513G>T	NM_001298.2	NP_001289.1:p.(Trp171Cys)	NC_000002.11:g.99006184G>T	VUS	1 lab	e0650fe79e
8:144999665 PLEC G>C	8	144999665	144999665	G	C	PLEC	c.4843C>G	NM_201380.4	NP_958782.1:p.(Leu1615Val)	NC_000008.10:g.144999665G>C	VUS	1 lab	e066c71118
3:48508585 SHISA5 C>T	3	48508585	48508585	C	T	SHISA5				NC_000003.11:g.48508585C>T	(Likely) benign	1 lab	e06777bdfa
7:91706325 AKAP9 ATTAG>A	7	91706325	91706332	ATTAG	A	AKAP9	c.6765+8_6765+11del	NM_005751.4	NP_005742.4:p.?	NC_000007.13:g.91706329_91706332del	VUS	1 lab	e067ed264e
2:48010528 MSH6 GGCTGGGCCTGGGCCCA>G	2	48010528	48010545	GGCTGGGCCTGGGCCCA	G	MSH6	c.158_173del	NM_000179.3	NP_000170.1:p.(Ala53GlyfsTer23)	NC_000002.11:g.48010530_48010545del	(Likely) pathogenic	1 lab	e06aefef59
16:9000423 USP7 G>A	16	9000423	9000423	G	A	USP7	c.1288C>T	NM_003470.3	NP_003461.2:p.(Gln430Ter)	NC_000016.9:g.9000423G>A	(Likely) pathogenic	1 lab	e06c43ee76
11:108124671 ATM A>T	11	108124671	108124671	A	T	ATM	c.2029A>T	NM_000051.4	NP_000042.3:p.(Ser677Cys)	NC_000011.9:g.108124671A>T	VUS	1 lab	e06e63c04d
4:1800914 FGFR3 C>T	4	1800914	1800914	C	T	FGFR3	c.110-67C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1800914C>T	(Likely) benign	1 lab	e06ee97c67
1:45797216 MUTYH C>A	1	45797216	45797216	C	A	MUTYH	c.1199G>T	NM_001128425.2	NP_001121897.1:p.(Gly400Val)	NC_000001.10:g.45797216C>A	VUS	1 lab	e0712760ec
17:48246539 SGCA A>C	17	48246539	48246539	A	C	SGCA	c.671A>C	NM_000023.3	NP_000014.1:p.(Gln224Pro)	NC_000017.10:g.48246539A>C	(Likely) pathogenic	1 lab	e0721e1268
4:3494826 DOK7 A>C	4	3494826	3494826	A	C	DOK7	c.1113A>C	NM_173660.4	NP_775931.3:p.(Ser371=)	NC_000004.11:g.3494826A>C	(Likely) benign	1 lab	e072aebd00
11:108117756 ATM A>G	11	108117756	108117756	A	G	ATM	c.967A>G	NM_000051.4	NP_000042.3:p.(Ile323Val)	NC_000011.9:g.108117756A>G	(Likely) pathogenic	1 lab	e073e4028f
10:112572038 RBM20 A>G	10	112572038	112572038	A	G	RBM20	c.1883A>G	NM_001134363.3	NP_001127835.2:p.(Tyr628Cys)	NC_000010.10:g.112572038A>G	VUS	1 lab	e075ee567e
1:171621186 MYOC CG>C	1	171621186	171621189	CG	C	MYOC	c.565del	NM_000261.2	NP_000252.1:p.(Arg189GlufsTer27)	NC_000001.10:g.171621189del	VUS	1 lab	e07810c1a9
7:143036383 CLCN1 C>T	7	143036383	143036383	C	T	CLCN1	c.1439C>T	NM_000083.2	NP_000074.2:p.(Pro480Leu)	NC_000007.13:g.143036383C>T	(Likely) pathogenic	1 lab	e078eb2560
9:109701297 ZNF462 C>T	9	109701297	109701297	C	T	ZNF462	c.6336C>T	NM_021224.6	NP_067047.4:p.(Leu2112=)	NC_000009.11:g.109701297C>T	(Likely) benign	1 lab	13f3c2a0bd
X:136649716 ZIC3 GC>G	X	136649716	136649719	GC	G	ZIC3	c.869del	NM_003413.3	NP_003404.1:p.(Pro290ArgfsTer118)	NC_000023.10:g.136649719del	(Likely) pathogenic	1 lab	e07e25ed66
9:88236136 AGTPBP1 A>C	9	88236136	88236136	A	C	AGTPBP1	c.1960T>G	NM_015239.2	NP_056054.2:p.(Tyr654Asp)	NC_000009.11:g.88236136A>C	VUS	1 lab	e07e4278a4
12:48367954 COL2A1 A>G	12	48367954	48367954	A	G	COL2A1	c.4235T>C	NM_001844.5	NP_001835.3:p.(Leu1412Pro)	NC_000012.11:g.48367954A>G	(Likely) pathogenic	1 lab	e080e99e8e
8:61757928 CHD7 G>T	8	61757928	61757928	G	T	CHD7				NC_000008.10:g.61757928G>T	(Likely) pathogenic	1 lab	e083e4cfe9
1:226253365 H3-3A C>T	1	226253365	226253365	C	T	H3-3A	c.137C>T	NM_002107.4	NP_002098.1:p.(Thr46Ile)	NC_000001.10:g.226253365C>T	VUS	1 lab	e0841623b9
2:179531644 TTN T>TA	2	179531644	179531645	T	TA	TTN	c.35798-17dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179531645dup	(Likely) benign	1 lab	e084651b5e
16:2152255 PKD1 C>G	16	2152255	2152255	C	G	PKD1	c.9204G>C	NM_001009944.2	NP_001009944.2:p.(Glu3068Asp)	NC_000016.9:g.2152255C>G	(Likely) benign	1 lab	1607b06cf8
7:128480163 FLNC T>C	7	128480163	128480163	T	C	FLNC	c.1498T>C	NM_001458.4	NP_001449.3:p.(Phe500Leu)	NC_000007.13:g.128480163T>C	VUS	1 lab	1608bdc15f
3:38739455 SCN10A G>A	3	38739455	38739455	G	A	SCN10A	c.5256C>T	NM_006514.3	NP_006505.3:p.(Asp1752=)	NC_000003.11:g.38739455G>A	(Likely) benign	1 lab	e08878d39a
5:112174159 APC C>A	5	112174159	112174159	C	A	APC	c.2868C>A	NM_000038.6	NP_000029.2:p.(Tyr956Ter)	NC_000005.9:g.112174159C>A	(Likely) pathogenic	1 lab	e088950e58
17:29586046 NF1 G>A	17	29586046	29586046	G	A	NF1	c.4333-4G>A	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29586046G>A	(Likely) benign	1 lab	e0894a9a76
X:68058683 EFNB1 A>C	X	68058683	68058683	A	C	EFNB1	c.352A>C	NM_004429.4	NP_004420.1:p.(Ser118Arg)	NC_000023.10:g.68058683A>C	(Likely) pathogenic	1 lab	e08a4beef2
13:32953622 BRCA2 GT>G	13	32953622	32953623	GT	G	BRCA2	c.8924del	NM_000059.3	NP_000050.2:p.(Val2975GlufsTer13)	NC_000013.10:g.32953623del	(Likely) pathogenic	1 lab	e08ec9cd3d
14:23902443 MYH7 G>GC	14	23902443	23902444	G	GC	MYH7	c.202-8_202-7insG	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23902443_23902444insC	(Likely) benign	1 lab	e08f67fe90
17:17124815 FLCN C>T	17	17124815	17124815	C	T	FLCN	c.871+36G>A	NM_144997.6	NP_659434.2:p.?	NC_000017.10:g.17124815C>T	(Likely) benign	1 lab	e090c7a5f1
3:37042517 MLH1 T>C	3	37042517	37042517	T	C	MLH1	c.279T>C	NM_000249.3	NP_000240.1:p.(Ser93=)	NC_000003.11:g.37042517T>C	(Likely) benign	1 lab	e09285a782
7:39736429 RALA T>A	7	39736429	39736429	T	A	RALA	c.469T>A	NM_005402.4	NP_005393.2:p.(Ser157Thr)	NC_000007.13:g.39736429T>A	(Likely) pathogenic	1 lab	e09289bad1
7:107302088 SLC26A4 T>G	7	107302088	107302088	T	G	SLC26A4	c.2T>G	NM_000441.2	NP_000432.1:p.(Met1?)	NC_000007.13:g.107302088T>G	(Likely) pathogenic	1 lab	e092e407b6
X:80001091 BRWD3 G>A	X	80001091	80001091	G	A	BRWD3				NC_000023.10:g.80001091G>A	(Likely) pathogenic	1 lab	e094d17271
1:154544158 CHRNB2 G>A	1	154544158	154544158	G	A	CHRNB2	c.859G>A	NM_000748.3	NP_000739.1:p.(Val287Met)	NC_000001.10:g.154544158G>A	(Likely) pathogenic	1 lab	e095732cea
22:46327058 WNT7B G>A	22	46327058	46327058	G	A	WNT7B	c.490C>T	NM_058238.2	NP_478679.1:p.(Arg164Trp)	NC_000022.10:g.46327058G>A	VUS	1 lab	e095bf55fa
17:1381398 MYO1C C>T	17	1381398	1381398	C	T	MYO1C	c.1384G>A	NM_001080779.1	NP_001074248.1:p.(Glu462Lys)	NC_000017.10:g.1381398C>T	VUS	1 lab	e096ee894f
15:90171811 KIF7 C>T	15	90171811	90171811	C	T	KIF7	c.3871G>A	NM_198525.2	NP_940927.2:p.(Glu1291Lys)	NC_000015.9:g.90171811C>T	VUS	1 lab	e0972a3b3a
16:71798556 AP1G1 A>T	16	71798556	71798556	A	T	AP1G1	c.812T>A	NM_001128.6	NP_001119.3:p.(Leu271Ter)	NC_000016.9:g.71798556A>T	(Likely) pathogenic	1 lab	e098089903
X:18593612 CDKL5 T>G	X	18593612	18593612	T	G	CDKL5	c.282+2T>G	NM_003159.2	NP_003150.1:p.?	NC_000023.10:g.18593612T>G	(Likely) pathogenic	1 lab	e0984536c4
6:33133485 COL11A2 C>T	6	33133485	33133485	C	T	COL11A2	c.4591G>A	NM_080680.2	NP_542411.2:p.(Gly1531Arg)	NC_000006.11:g.33133485C>T	VUS	1 lab	e0984a5c6f
13:32906583 BRCA2 T>G	13	32906583	32906583	T	G	BRCA2	c.968T>G	NM_000059.3	NP_000050.2:p.(Val323Gly)	NC_000013.10:g.32906583T>G	(Likely) benign	1 lab	e09914bf44
10:102780354 PDZD7 TG>T	10	102780354	102780357	TG	T	PDZD7	c.928+20del	NM_001195263.2	NP_001182192.1:p.?	NC_000010.10:g.102780357del	(Likely) benign	1 lab	13f7940b48
2:179669299 TTN G>C	2	179669299	179669299	G	C	TTN	c.71C>G	NM_001267550.2	NP_001254479.2:p.(Thr24Ser)	NC_000002.11:g.179669299G>C	VUS	1 lab	e09a731869
1:216420404 USH2A C>A	1	216420404	216420404	C	A	USH2A	c.2332G>T	NM_206933.4	NP_996816.3:p.(Asp778Tyr)	NC_000001.10:g.216420404C>A	(Likely) pathogenic	1 lab	e09b8ba6cb
14:78023487 SPTLC2 T>C	14	78023487	78023487	T	C	SPTLC2	c.853A>G	NM_004863.3	NP_004854.1:p.(Met285Val)	NC_000014.8:g.78023487T>C	(Likely) benign	1 lab	e09dcfc163
17:61995746 GH1 T>G	17	61995746	61995746	T	G	GH1	c.131A>C	NM_000515.4	NP_000506.2:p.(His44Pro)	NC_000017.10:g.61995746T>G	VUS	1 lab	e0a1d92d92
7:4824533 AP5Z1 C>T	7	4824533	4824533	C	T	AP5Z1	c.791-6C>T	NM_014855.2	NP_055670.1:p.?	NC_000007.13:g.4824533C>T	(Likely) benign	1 lab	e0a2617842
12:50347954 AQP2 C>T	12	50347954	50347954	C	T	AQP2	c.377C>T	NM_000486.5	NP_000477.1:p.(Thr126Met)	NC_000012.11:g.50347954C>T	(Likely) pathogenic	1 lab	e0a50809c2
X:154088871 F8 T>A	X	154088871	154088871	T	A	F8	c.6736A>T	NM_000132.3	NP_000123.1:p.(Lys2246Ter)	NC_000023.10:g.154088871T>A	(Likely) pathogenic	1 lab	161628c968
15:89402239 ACAN T>C	15	89402239	89402239	T	C	ACAN	c.6423T>C	NM_013227.4	NP_037359.3:p.(Leu2141=)	NC_000015.9:g.89402239T>C	(Likely) benign	1 lab	1403d954cd
11:47369040 MYBPC3 G>C	11	47369040	47369040	G	C	MYBPC3	c.852-10C>G	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47369040G>C	VUS	1 lab	1407932cbe
1:201328786 TNNT2 A>G	1	201328786	201328786	A	G	TNNT2	c.786T>C	NM_001276347.2	NP_001263276.1:p.(Asn262=)	NC_000001.10:g.201328786A>G	(Likely) benign	1 lab	1618064eec
16:23614528 PALB2 C>T	16	23614528	23614528	C	T	PALB2	c.*252G>A	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23614528C>T	(Likely) benign	1 lab	e0abe34860
5:112175490 APC C>A	5	112175490	112175490	C	A	APC	c.4199C>A	NM_000038.5	NP_000029.2:p.(Ser1400Ter)	NC_000005.9:g.112175490C>A	(Likely) pathogenic	1 lab	e0ac611bbb
X:71495388 RPS4X T>TCTA	X	71495388	71495391	T	TCTA	RPS4X	c.262+5_262+6insTAG	NM_001007.5	NP_000998.1:p.?	NC_000023.10:g.71495390_71495391insACT	(Likely) benign	1 lab	1407aa9356
12:80712340 OTOGL C>T	12	80712340	80712340	C	T	OTOGL	c.3622C>T	NM_173591.3	NP_775862.3:p.(Pro1208Ser)	NC_000012.11:g.80712340C>T	VUS	1 lab	e0ae76d86d
5:112136975 APC G>A	5	112136975	112136975	G	A	APC	c.730-1G>A	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112136975G>A	(Likely) pathogenic	1 lab	e0aecb46bc
2:211540463 CPS1 G>A	2	211540463	211540463	G	A	CPS1	c.4173G>A	NM_001875.5	NP_001866.2:p.(Thr1391=)	NC_000002.11:g.211540463G>A	(Likely) benign	1 lab	1407dcb224
16:68842599 CDH1 A>G	16	68842599	68842599	A	G	CDH1	c.535A>G	NM_004360.4	NP_004351.1:p.(Lys179Glu)	NC_000016.9:g.68842599A>G	(Likely) pathogenic	1 lab	e0b328fbe6
11:2606621 KCNQ1 C>T	11	2606621	2606621	C	T	KCNQ1	c.1128+84C>T	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2606621C>T	(Likely) benign	1 lab	e0b50a47f7
6:33148878 COL11A2 C>T	6	33148878	33148878	C	T	COL11A2	c.1179+10G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33148878C>T	(Likely) benign	1 lab	e0b552db82
16:16184400 ABCC1 C>T	16	16184400	16184400	C	T	ABCC1	c.2599C>T	NM_004996.4	NP_004987.2:p.(Arg867Cys)	NC_000016.9:g.16184400C>T	VUS	1 lab	e0b5bc381a
1:23385581 KDM1A C>G	1	23385581	23385581	C	G	KDM1A	c.1088C>G	NM_001009999.3	NP_001009999.1:p.(Ala363Gly)	NC_000001.10:g.23385581C>G	VUS	1 lab	140a6025f7
3:151055862 P2RY12 G>T	3	151055862	151055862	G	T	P2RY12	c.772C>A	NM_022788.4	NP_073625.1:p.(Pro258Thr)	NC_000003.11:g.151055862G>T	(Likely) pathogenic	1 lab	16195eca86
10:115405615 NRAP T>C	10	115405615	115405615	T	C	NRAP	c.1079A>G	NM_001261463.2	NP_001248392.1:p.(Gln360Arg)	NC_000010.10:g.115405615T>C	(Likely) benign	1 lab	140b3a01e3
6:33403291 SYNGAP1 G>C	6	33403291	33403291	G	C	SYNGAP1	c.664-1G>C	NM_006772.2	NP_006763.2:p.?	NC_000006.11:g.33403291G>C	(Likely) pathogenic	1 lab	e0b972233a
20:5948542 MCM8 G>A	20	5948542	5948542	G	A	MCM8	c.1094G>A	NM_032485.6	NP_115874.3:p.(Ser365Asn)	NC_000020.10:g.5948542G>A	(Likely) benign	1 lab	e0ba62dcb9
18:48584504 SMAD4 C>T	18	48584504	48584504	C	T	SMAD4	c.677C>T	NM_005359.5	NP_005350.1:p.(Ala226Val)	NC_000018.9:g.48584504C>T	(Likely) benign	1 lab	e0bc31eeac
12:6077279 VWF G>A	12	6077279	6077279	G	A	VWF	c.7770+14C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6077279G>A	(Likely) benign	1 lab	e0c1488afb
2:98430543 TMEM131 A>C	2	98430543	98430543	A	C	TMEM131	c.1508T>G	NM_015348.2	NP_056163.1:p.(Leu503Arg)	NC_000002.11:g.98430543A>C	VUS	1 lab	141263f0a4
10:73491983 CDH23 G>T	10	73491983	73491983	G	T	CDH23	c.3955G>T	NM_022124.5	NP_071407.4:p.(Glu1319Ter)	NC_000010.10:g.73491983G>T	(Likely) pathogenic	1 lab	e0c72b64db
X:70361080 MED12 C>T	X	70361080	70361080	C	T	MED12	c.6268C>T	NM_005120.2	NP_005111.2:p.(Gln2090Ter)	NC_000023.10:g.70361080C>T	(Likely) pathogenic	1 lab	e0c934ec4d
2:227872066 COL4A4 C>T	2	227872066	227872066	C	T	COL4A4	c.5048G>A	NM_000092.4	NP_000083.3:p.(Cys1683Tyr)	NC_000002.11:g.227872066C>T	(Likely) pathogenic	1 lab	e0c9c73c46
7:150655597 KCNH2 G>T	7	150655597	150655597	G	T	KCNH2	c.473-7C>A	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150655597G>T	(Likely) benign	1 lab	e0ccad686b
2:167284441 SCN7A C>T	2	167284441	167284441	C	T	SCN7A	c.2710G>A	NM_002976.4	NP_002967.2:p.(Gly904Arg)	NC_000002.11:g.167284441C>T	(Likely) benign	1 lab	e0ccec42c8
2:48030677 MSH6 T>A	2	48030677	48030677	T	A	MSH6	c.3291T>A	NM_000179.3	NP_000170.1:p.(Pro1097=)	NC_000002.11:g.48030677T>A	(Likely) benign	1 lab	e0cddefcf3
16:56903674 SLC12A3 C>A	16	56903674	56903674	C	A	SLC12A3	c.539C>A	NM_000339.3	NP_000330.3:p.(Thr180Lys)	NC_000016.9:g.56903674C>A	(Likely) pathogenic	1 lab	e0ce3b9eb1
4:187120168 CYP4V2 G>A	4	187120168	187120168	G	A	CYP4V2	c.732G>A	NM_207352.3	NP_997235.3:p.(Trp244Ter)	NC_000004.11:g.187120168G>A	(Likely) pathogenic	1 lab	e0cfbf0a0b
8:144995290 PLEC T>G	8	144995290	144995290	T	G	PLEC	c.9110A>C	NM_201380.3	NP_958782.1:p.(Glu3037Ala)	NC_000008.10:g.144995290T>G	VUS	1 lab	e0d12eca4a
19:42797904 CIC C>T	19	42797904	42797904	C	T	CIC	c.3956C>T	NM_015125.5	NP_055940.3:p.(Pro1319Leu)	NC_000019.9:g.42797904C>T	VUS	1 lab	1412991c6b
19:39052071 RYR1 C>A	19	39052071	39052071	C	A	RYR1	c.12601C>A	NM_000540.2	NP_000531.2:p.(Arg4201Ser)	NC_000019.9:g.39052071C>A	VUS	1 lab	e0d2bc8fb1
4:155490832 FGB C>T	4	155490832	155490832	C	T	FGB	c.1125C>T	NM_005141.4	NP_005132.2:p.(Tyr375=)	NC_000004.11:g.155490832C>T	(Likely) benign	1 lab	e0d3dc780b
6:99323591 FBXL4 CAT>C	6	99323591	99323594	CAT	C	FBXL4	c.1400_1401del	NM_001278716.1	NP_001265645.1:p.(Tyr467Ter)	NC_000006.11:g.99323593_99323594del	(Likely) pathogenic	1 lab	e0d3fbe8bf
6:157527809 ARID1B G>A	6	157527809	157527809	G	A	ARID1B	c.5534G>A	NM_020732.3	NP_065783.3:p.(Arg1845His)	NC_000006.11:g.157527809G>A	(Likely) benign	1 lab	e0d68d67b7
17:59761357 BRIP1 G>A	17	59761357	59761357	G	A	BRIP1	c.3050C>T	NM_032043.3	NP_114432.2:p.(Pro1017Leu)	NC_000017.10:g.59761357G>A	(Likely) benign	1 lab	e0dab97dc0
X:107911576 COL4A5 G>A	X	107911576	107911576	G	A	COL4A5	c.3632G>A	NM_033380.2	NP_203699.1:p.(Gly1211Glu)	NC_000023.10:g.107911576G>A	(Likely) pathogenic	1 lab	e0e0391ac6
17:17585040 RAI1 A>C	17	17585040	17585040	A	C	RAI1	c.-216A>C	NM_030665.3	NP_109590.3:p.?	NC_000017.10:g.17585040A>C	(Likely) benign	1 lab	e0e366231f
X:107167695 MID2 G>A	X	107167695	107167695	G	A	MID2	c.1558G>A	NM_012216.3	NP_036348.2:p.(Gly520Ser)	NC_000023.10:g.107167695G>A	VUS	1 lab	e0e42cdd16
2:97475075 CNNM4 C>T	2	97475075	97475075	C	T	CNNM4	c.2149C>T	NM_020184.3	NP_064569.3:p.(Gln717Ter)	NC_000002.11:g.97475075C>T	(Likely) pathogenic	1 lab	e0e433481c
1:6531843 PLEKHG5 A>G	1	6531843	6531843	A	G	PLEKHG5	c.1337T>C	NM_198681.3	NP_941374.2:p.(Leu446Pro)	NC_000001.10:g.6531843A>G	VUS	1 lab	e0e9d0eb20
9:140057327 GRIN1 C>A	9	140057327	140057327	C	A	GRIN1	c.2043C>A	NM_007327.4	NP_015566.1:p.(Tyr681Ter)	NC_000009.11:g.140057327C>A	VUS	1 lab	e0ea5be74a
2:179594574 TTN G>A	2	179594574	179594574	G	A	TTN	c.14674C>T	NM_133378.4	NP_596869.4:p.(Arg4892Ter)	NC_000002.11:g.179594574G>A	(Likely) pathogenic	1 lab	e0ea9ca848
5:112175594 APC A>T	5	112175594	112175594	A	T	APC	c.4303A>T	NM_000038.5	NP_000029.2:p.(Arg1435Ter)	NC_000005.9:g.112175594A>T	(Likely) pathogenic	1 lab	e0eb5e7917
3:140282861 CLSTN2 C>T	3	140282861	140282861	C	T	CLSTN2	c.2541C>T	NM_022131.2	NP_071414.2:p.(Val847=)	NC_000003.11:g.140282861C>T	(Likely) benign	1 lab	e0ebcca140
2:1891360 MYT1L G>A	2	1891360	1891360	G	A	MYT1L	c.2536C>T	NM_015025.3	NP_055840.2:p.(Gln846Ter)	NC_000002.11:g.1891360G>A	(Likely) pathogenic	1 lab	e0ed572f3d
3:189612038 TP63 T>G	3	189612038	189612038	T	G	TP63	c.1790T>G	NM_003722.4	NP_003713.3:p.(Ile597Ser)	NC_000003.11:g.189612038T>G	(Likely) pathogenic	1 lab	e0eda8fe74
10:89720857 PTEN C>G	10	89720857	89720857	C	G	PTEN	c.1008C>G	NM_000314.4	NP_000305.3:p.(Tyr336Ter)	NC_000010.10:g.89720857C>G	(Likely) pathogenic	1 lab	e0ef74c678
8:38271692 FGFR1 G>C	8	38271692	38271692	G	C	FGFR1	c.2164C>G	NM_023110.3	NP_075598.2:p.(Pro722Ala)	NC_000008.10:g.38271692G>C	(Likely) pathogenic	1 lab	e0f034e340
X:106884144 PRPS1 A>G	X	106884144	106884144	A	G	PRPS1	c.319A>G	NM_002764.4	NP_002755.1:p.(Ile107Val)	NC_000023.10:g.106884144A>G	(Likely) pathogenic	1 lab	e0f1698ed5
6:157222523 ARID1B A>G	6	157222523	157222523	A	G	ARID1B	c.1790A>G	NM_020732.3	NP_065783.3:p.(Tyr597Cys)	NC_000006.11:g.157222523A>G	VUS	1 lab	e0f3681d54
15:35083506 ACTC1 A>AGTGT	15	35083506	35083509	A	AGTGT	ACTC1	c.809-11_809-10insACAC	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083508_35083509insGTGT	(Likely) benign	1 lab	e0f3b8dce9
14:104641688 KIF26A G>A	14	104641688	104641688	G	A	KIF26A	c.2563G>A	NM_015656.1	NP_056471.1:p.(Glu855Lys)	NC_000014.8:g.104641688G>A	VUS	1 lab	e0f5905770
3:38783818 SCN10A G>C	3	38783818	38783818	G	C	SCN10A	c.2070C>G	NM_006514.4	NP_006505.4:p.(Ser690Arg)	NC_000003.11:g.38783818G>C	(Likely) benign	1 lab	e0f795d796
12:49579163 TUBA1A T>C	12	49579163	49579163	T	C	TUBA1A	c.986A>G	NM_006009.3	NP_006000.2:p.(Asn329Ser)	NC_000012.11:g.49579163T>C	(Likely) pathogenic	1 lab	e0f823e3c5
2:240111521 HDAC4 C>T	2	240111521	240111521	C	T	HDAC4	c.339+8G>A	NM_006037.3	NP_006028.2:p.?	NC_000002.11:g.240111521C>T	(Likely) benign	1 lab	e0f830e174
13:113803712 F10 G>A	13	113803712	113803712	G	A	F10	c.1348G>A	NM_000504.4	NP_000495.1:p.(Gly450Arg)	NC_000013.10:g.113803712G>A	(Likely) pathogenic	1 lab	e0fa84aa9e
5:112170826 APC AT>A	5	112170826	112170827	AT	A	APC	c.1923del	NM_000038.6	NP_000029.2:p.(Asn641LysfsTer5)	NC_000005.9:g.112170827del	(Likely) pathogenic	1 lab	e0fae7dcb5
17:41245886 BRCA1 C>T	17	41245886	41245886	C	T	BRCA1	c.1662G>A	NM_007294.4	NP_009225.1:p.(Glu554=)	NC_000017.10:g.41245886C>T	(Likely) benign	1 lab	e0fe057525
5:14461131 TRIO C>G	5	14461131	14461131	C	G	TRIO	c.5207C>G	NM_007118.4	NP_009049.2:p.(Ser1736Trp)	NC_000005.9:g.14461131C>G	VUS	1 lab	162030d113
7:128491005 FLNC A>T	7	128491005	128491005	A	T	FLNC	c.5539+8A>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128491005A>T	(Likely) benign	1 lab	e1007e1d28
10:88441404 LDB3 G>T	10	88441404	88441404	G	T	LDB3	c.533G>T	NM_007078.2	NP_009009.1:p.(Arg178Leu)	NC_000010.10:g.88441404G>T	(Likely) benign	1 lab	e100aa9114
6:112510328 LAMA4 C>T	6	112510328	112510328	C	T	LAMA4	c.793+5G>A	NM_002290.5	NP_002281.3:p.?	NC_000006.11:g.112510328C>T	VUS	1 lab	141874f6e2
1:247611570 NLRP3 CTT>C	1	247611570	247611592	CTT	C	NLRP3	c.3006-116_3006-115del	NM_001243133.2	NP_001230062.1:p.?	NC_000001.10:g.247611591_247611592del	(Likely) benign	1 lab	1621042b9d
X:53230895 KDM5C T>A	X	53230895	53230895	T	A	KDM5C	c.1898A>T	NM_004187.3	NP_004178.2:p.(Tyr633Phe)	NC_000023.10:g.53230895T>A	(Likely) pathogenic	1 lab	e1054dc85c
11:77036412 PAK1 G>T	11	77036412	77036412	G	T	PAK1	c.1552-2007C>A	NM_002576.5	NP_002567.3:p.?	NC_000011.9:g.77036412G>T	VUS	1 lab	e106d872bf
17:79892807 PYCR1 C>T	17	79892807	79892807	C	T	PYCR1	c.535G>A	NM_153824.1	NP_722546.1:p.(Ala179Thr)	NC_000017.10:g.79892807C>T	(Likely) pathogenic	1 lab	e10e19980a
15:93515621 CHD2 C>G	15	93515621	93515621	C	G	CHD2	c.2479C>G	NM_001271.3	NP_001262.3:p.(Leu827Val)	NC_000015.9:g.93515621C>G	VUS	1 lab	e10eb30768
1:161277123 MPZ C>G	1	161277123	161277123	C	G	MPZ	c.159G>C	NM_000530.6	NP_000521.2:p.(Trp53Cys)	NC_000001.10:g.161277123C>G	VUS	1 lab	e10f9dc2c7
11:1862298 TNNI2 G>A	11	1862298	1862298	G	A	TNNI2	c.314G>A	NM_003282.3	NP_003273.1:p.(Gly105Asp)	NC_000011.9:g.1862298G>A	VUS	1 lab	e111e50e14
1:45798287 MUTYH G>A	1	45798287	45798287	G	A	MUTYH	c.649C>T	NM_001128425.1	NP_001121897.1:p.(Arg217Cys)	NC_000001.10:g.45798287G>A	VUS	1 lab	e12d780fa8
4:77659984 SHROOM3 CAGGGGAGCAT>AGGCTCCA	4	77659984	77659994	CAGGGGAGCAT	AGGCTCCA	SHROOM3	c.658_668delinsAGGCTCCA	NM_020859.3	NP_065910.3:p.(Gln220_Met223delinsArgLeuGln)	NC_000004.11:g.77659984_77659994delinsAGGCTCCA	VUS	1 lab	e11329777c
11:76914100 MYO7A G>A	11	76914100	76914100	G	A	MYO7A	c.5169-5G>A	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76914100G>A	VUS	1 lab	e114f5a68f
8:38275745 FGFR1 C>T	8	38275745	38275745	C	T	FGFR1	c.1430+1G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38275745C>T	(Likely) pathogenic	1 lab	e1153a708a
2:228162467 COL4A3 C>T	2	228162467	228162467	C	T	COL4A3				NC_000002.11:g.228162467C>T	(Likely) pathogenic	1 lab	e117430e04
9:127262535 NR5A1 G>A	9	127262535	127262535	G	A	NR5A1	c.704C>T	NM_004959.5	NP_004950.2:p.(Pro235Leu)	NC_000009.11:g.127262535G>A	VUS	1 lab	e1179222cb
17:7126549 ACADVL T>C	17	7126549	7126549	T	C	ACADVL	c.1244T>C	NM_001270447.1	NP_001257376.1:p.(Val415Ala)	NC_000017.10:g.7126549T>C	(Likely) pathogenic	1 lab	e1192c786a
22:24808666 SPECC1L A>T	22	24808666	24808666	A	T	SPECC1L	c.3255A>T	NM_015330.6	NP_056145.5:p.(Lys1085Asn)	NC_000022.10:g.24808666A>T	VUS	1 lab	141d47ab95
7:47944210 PKD1L1 G>A	7	47944210	47944210	G	A	PKD1L1	c.1696C>T	NM_138295.4	NP_612152.1:p.(Arg566Cys)	NC_000007.13:g.47944210G>A	(Likely) benign	1 lab	e12168b94d
3:46899877 MYL3 C>T	3	46899877	46899877	C	T	MYL3	c.556G>A	NM_000258.2	NP_000249.1:p.(Glu186Lys)	NC_000003.11:g.46899877C>T	VUS	1 lab	162c6ceba1
2:179482154 TTN A>G	2	179482154	179482154	A	G	TTN	c.47658T>C	NM_001267550.1	NP_001254479.1:p.(Asp15886=)	NC_000002.11:g.179482154A>G	(Likely) benign	1 lab	e1290384e6
8:38271518 FGFR1 C>T	8	38271518	38271518	C	T	FGFR1	c.2210G>A	NM_023110.2	NP_075598.2:p.(Trp737Ter)	NC_000008.10:g.38271518C>T	(Likely) pathogenic	1 lab	e12afb54e8
11:76877215 MYO7A C>T	11	76877215	76877215	C	T	MYO7A	c.1797+7C>T	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76877215C>T	(Likely) benign	1 lab	e12b7f72b0
X:153594421 FLNA C>T	X	153594421	153594421	C	T	FLNA	c.1400G>A	NM_001110556.1	NP_001104026.1:p.(Arg467His)	NC_000023.10:g.153594421C>T	VUS	1 lab	e12e685158
5:147211100 SPINK1 A>C	5	147211100	147211100	A	C	SPINK1	c.41T>G	NM_003122.3	NP_003113.2:p.(Leu14Arg)	NC_000005.9:g.147211100A>C	(Likely) pathogenic	1 lab	e12e825af9
X:70330479 IL2RG TC>T	X	70330479	70330480	TC	T	IL2RG	c.328del	NM_000206.2	NP_000197.1:p.(Glu110LysfsTer37)	NC_000023.10:g.70330480del	(Likely) pathogenic	1 lab	e12fc65f34
2:50765755 NRXN1 C>T	2	50765755	50765755	C	T	NRXN1	c.1779G>A	NM_004801.5	NP_004792.1:p.(Thr593=)	NC_000002.11:g.50765755C>T	(Likely) benign	1 lab	162ea39e91
5:141694021 SPRY4 G>T	5	141694021	141694021	G	T	SPRY4	c.722C>A	NM_030964.3	NP_112226.2:p.(Ser241Tyr)	NC_000005.9:g.141694021G>T	(Likely) benign	1 lab	e133e73975
16:3808000 CREBBP C>T	16	3808000	3808000	C	T	CREBBP	c.3419G>A	NM_004380.2	NP_004371.2:p.(Arg1140Gln)	NC_000016.9:g.3808000C>T	VUS	1 lab	e135990a2b
2:179423349 TTN G>T	2	179423349	179423349	G	T	TTN	c.86837C>A	NM_001267550.2	NP_001254479.2:p.(Pro28946His)	NC_000002.11:g.179423349G>T	VUS	1 lab	14211ab912
X:153171370 AVPR2 G>A	X	153171370	153171370	G	A	AVPR2	c.410G>A	NM_000054.5	NP_000045.1:p.(Arg137His)	NC_000023.10:g.153171370G>A	(Likely) pathogenic	1 lab	e13d830894
5:73992895 HEXB A>T	5	73992895	73992895	A	T	HEXB	c.633A>T	NM_000521.3	NP_000512.1:p.(Arg211Ser)	NC_000005.9:g.73992895A>T	VUS	1 lab	e1409cf74d
17:39768561 KRT16 C>G	17	39768561	39768561	C	G	KRT16	c.380G>C	NM_005557.3	NP_005548.2:p.(Arg127Pro)	NC_000017.10:g.39768561C>G	(Likely) pathogenic	1 lab	e14362dd1c
4:79351252 FRAS1 C>G	4	79351252	79351252	C	G	FRAS1	c.4844-194C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79351252C>G	(Likely) benign	1 lab	16345dfca4
2:160295002 BAZ2B TCA>T	2	160295002	160295006	TCA	T	BAZ2B	c.1103_1104del	NM_013450.3	NP_038478.2:p.(Val368GlufsTer39)	NC_000002.11:g.160295005_160295006del	(Likely) pathogenic	1 lab	e1450a229d
5:125912789 ALDH7A1 C>T	5	125912789	125912789	C	T	ALDH7A1				NC_000005.9:g.125912789C>T	VUS	1 lab	e14ab41627
1:237753087 RYR2 T>C	1	237753087	237753087	T	C	RYR2	c.3599-6T>C	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237753087T>C	(Likely) benign	1 lab	1634af9f0c
16:30748505 SRCAP A>C	16	30748505	30748505	A	C	SRCAP	c.7144A>C	NM_006662.3	NP_006653.2:p.(Ser2382Arg)	NC_000016.9:g.30748505A>C	VUS	1 lab	e14d43d7de
2:31806031 SRD5A2 C>G	2	31806031	31806031	C	G	SRD5A2	c.-62G>C	NM_000348.3	NP_000339.2:p.?	NC_000002.11:g.31806031C>G	(Likely) benign	1 lab	e14ecd357c
16:89613069 SPG7 A>G	16	89613069	89613069	A	G	SPG7	c.1453A>G	NM_003119.3	NP_003110.1:p.(Arg485Gly)	NC_000016.9:g.89613069A>G	VUS	1 lab	e14ee83cb9
10:89720718 PTEN T>G	10	89720718	89720718	T	G	PTEN	c.869T>G	NM_000314.4	NP_000305.3:p.(Val290Gly)	NC_000010.10:g.89720718T>G	(Likely) benign	1 lab	e14f617772
13:32912017 BRCA2 G>A	13	32912017	32912017	G	A	BRCA2	c.3525G>A	NM_000059.3	NP_000050.2:p.(Gln1175=)	NC_000013.10:g.32912017G>A	(Likely) benign	1 lab	e150a429a7
14:97321607 VRK1 G>A	14	97321607	97321607	G	A	VRK1	c.623G>A	NM_003384.2	NP_003375.1:p.(Gly208Glu)	NC_000014.8:g.97321607G>A	VUS	1 lab	e1515ea532
5:1255456 TERT C>T	5	1255456	1255456	C	T	TERT	c.3103G>A	NM_198253.3	NP_937983.2:p.(Val1035Ile)	NC_000005.9:g.1255456C>T	VUS	1 lab	1422f03ed8
16:9857046 GRIN2A C>T	16	9857046	9857046	C	T	GRIN2A	c.4355G>A	NM_000833.4	NP_000824.1:p.(Arg1452His)	NC_000016.9:g.9857046C>T	VUS	1 lab	e1555cdb7d
1:94520843 ABCA4 AAT>A	1	94520843	94520845	AAT	A	ABCA4	c.2409_2410del	NM_000350.3	NP_000341.2:p.(Phe804TrpfsTer3)	NC_000001.10:g.94520844_94520845del	(Likely) pathogenic	1 lab	e1575fa75e
1:244218559 ZBTB18 C>T	1	244218559	244218559	C	T	ZBTB18	c.1483C>T	NM_205768.2	NP_991331.1:p.(Arg495Cys)	NC_000001.10:g.244218559C>T	(Likely) pathogenic	1 lab	e1578aef7b
1:120506195 NOTCH2 A>C	1	120506195	120506195	A	C	NOTCH2	c.1915+2T>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120506195A>C	(Likely) pathogenic	1 lab	142496e445
7:6018224 PMS2 TAC>T	7	6018224	6018226	TAC	T	PMS2	c.2275+1_2275+2del	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6018225_6018226del	(Likely) pathogenic	1 lab	e15862f125
20:18038552 OVOL2 A>C	20	18038552	18038552	A	C	OVOL2	c.-274T>G	NM_021220.4	NP_067043.2:p.?	NC_000020.10:g.18038552A>C	(Likely) pathogenic	1 lab	e158d28f5f
16:89351632 ANKRD11 G>A	16	89351632	89351632	G	A	ANKRD11	c.1318C>T	NM_001256182.1	NP_001243111.1:p.(Arg440Ter)	NC_000016.9:g.89351632G>A	(Likely) pathogenic	1 lab	e1591b656b
7:91670142 AKAP9 TGGAGAGACAGCGAGAAGACCAGGAAC>AGA	7	91670142	91670168	TGGAGAGACAGCGAGAAGACCAGGAAC	AGA	AKAP9	c.4847_4873delinsAGA	NM_005751.4	NP_005742.4:p.(Met1616_Gln1625delinsLysLys)	NC_000007.13:g.91670142_91670168delinsAGA	VUS	1 lab	e15b2b4d40
7:44281923 CAMK2B C>A	7	44281923	44281923	C	A	CAMK2B	c.713G>T	NM_001220.4	NP_001211.3:p.(Trp238Leu)	NC_000007.13:g.44281923C>A	VUS	1 lab	e15cb38627
4:3526642 LRPAP1 T>C	4	3526642	3526642	T	C	LRPAP1				NC_000004.11:g.3526642T>C	(Likely) benign	1 lab	e15ccae60b
X:153640210 TAFAZZIN C>A	X	153640210	153640210	C	A	TAFAZZIN	c.30C>A	NM_000116.4	NP_000107.1:p.(Pro10=)	NC_000023.10:g.153640210C>A	VUS	1 lab	e165f746a0
6:7578823 DSP G>A	6	7578823	7578823	G	A	DSP	c.3084+28G>A	NM_004415.2	NP_004406.2:p.?	NC_000006.11:g.7578823G>A	(Likely) benign	1 lab	e168f05491
9:139403392 NOTCH1 C>T	9	139403392	139403392	C	T	NOTCH1	c.3101G>A	NM_017617.5	NP_060087.3:p.(Gly1034Asp)	NC_000009.11:g.139403392C>T	VUS	1 lab	e16dd2b7b2
X:107812034 COL4A5 G>A	X	107812034	107812034	G	A	COL4A5	c.367G>A	NM_033380.2	NP_203699.1:p.(Gly123Arg)	NC_000023.10:g.107812034G>A	(Likely) pathogenic	1 lab	e16f9717f7
16:23646488 PALB2 T>C	16	23646488	23646488	T	C	PALB2	c.1379A>G	NM_024675.4	NP_078951.2:p.(Gln460Arg)	NC_000016.9:g.23646488T>C	(Likely) benign	1 lab	e171cbf8d5
1:156108299 LMNA G>A	1	156108299	156108299	G	A	LMNA	c.1719G>A	NM_170707.4	NP_733821.1:p.(Ser573=)	NC_000001.10:g.156108299G>A	(Likely) benign	1 lab	e1720a56d3
4:155508028 FGA T>C	4	155508028	155508028	T	C	FGA	c.553A>G	NM_000508.4	NP_000499.1:p.(Ser185Gly)	NC_000004.11:g.155508028T>C	VUS	1 lab	e172a551a9
3:38753770 SCN10A G>A	3	38753770	38753770	G	A	SCN10A	c.3971C>T	NM_006514.4	NP_006505.4:p.(Ser1324Leu)	NC_000003.11:g.38753770G>A	(Likely) benign	1 lab	e1785b45b7
22:36692969 MYH9 G>A	22	36692969	36692969	G	A	MYH9	c.3192C>T	NM_002473.5	NP_002464.1:p.(Ile1064=)	NC_000022.10:g.36692969G>A	(Likely) benign	1 lab	16367bae23
5:1286516 TERT C>A	5	1286516	1286516	C	A	TERT	c.1574-3777G>T	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1286516C>A	(Likely) benign	1 lab	e179c88fa8
1:216052410 USH2A C>T	1	216052410	216052410	C	T	USH2A	c.8254G>A	NM_206933.4	NP_996816.3:p.(Gly2752Arg)	NC_000001.10:g.216052410C>T	(Likely) pathogenic	1 lab	e17f124bb4
10:75802861 VCL A>G	10	75802861	75802861	A	G	VCL	c.189A>G	NM_014000.2	NP_054706.1:p.(Gln63=)	NC_000010.10:g.75802861A>G	(Likely) benign	1 lab	e18001623d
3:121980540 CASR C>T	3	121980540	121980540	C	T	CASR	c.658C>T	NM_000388.4	NP_000379.3:p.(Arg220Trp)	NC_000003.11:g.121980540C>T	(Likely) pathogenic	1 lab	e18466dd6e
19:55668718 TNNI3 G>GTGTC	19	55668718	55668722	G	GTGTC	TNNI3	c.12-46_12-43dup	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668719_55668722dup	(Likely) benign	1 lab	e186a42d80
6:33146849 COL11A2 C>A	6	33146849	33146849	C	A	COL11A2	c.1611+1G>T	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33146849C>A	(Likely) pathogenic	1 lab	e188296373
7:104752701 KMT2E T>A	7	104752701	104752701	T	A	KMT2E	c.4498T>A	NM_182931.3	NP_891847.1:p.(Tyr1500Asn)	NC_000007.13:g.104752701T>A	(Likely) pathogenic	1 lab	e188597827
5:112175734 APC TC>T	5	112175734	112175735	TC	T	APC	c.4444del	NM_000038.6	NP_000029.2:p.(Leu1482PhefsTer25)	NC_000005.9:g.112175735del	(Likely) pathogenic	1 lab	e18971ef8e
X:41045869 USP9X C>T	X	41045869	41045869	C	T	USP9X	c.3658C>T	NM_001039590.2	NP_001034679.2:p.(Arg1220Cys)	NC_000023.10:g.41045869C>T	(Likely) benign	1 lab	e18c1c158e
18:53254239 TCF4 T>C	18	53254239	53254239	T	C	TCF4	c.72+37A>G	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53254239T>C	(Likely) benign	1 lab	163f56ee56
X:48649665 GATA1 CG>C	X	48649665	48649666	CG	C	GATA1	c.150del	NM_002049.3	NP_002040.1:p.(Ser51AlafsTer86)	NC_000023.10:g.48649666del	(Likely) pathogenic	1 lab	e1922922e2
2:47637479 MSH2 G>T	2	47637479	47637479	G	T	MSH2	c.613G>T	NM_000251.2	NP_000242.1:p.(Glu205Ter)	NC_000002.11:g.47637479G>T	(Likely) pathogenic	1 lab	e196380d8f
9:135810438 TSC1 G>A	9	135810438	135810438	G	A	TSC1	c.-99C>T	NM_000368.5	NP_000359.1:p.?	NC_000009.11:g.135810438G>A	(Likely) benign	1 lab	e1973b9132
3:47458679 SCAP C>T	3	47458679	47458679	C	T	SCAP	c.2989G>A	NM_012235.2	NP_036367.2:p.(Gly997Arg)	NC_000003.11:g.47458679C>T	VUS	1 lab	e1975dba6a
20:42744395 JPH2 A>G	20	42744395	42744395	A	G	JPH2	c.1920T>C	NM_020433.4	NP_065166.2:p.(Thr640=)	NC_000020.10:g.42744395A>G	(Likely) benign	1 lab	e199363813
10:14978549 DCLRE1C G>T	10	14978549	14978549	G	T	DCLRE1C	c.350C>A	NM_001033855.2	NP_001029027.1:p.(Pro117Gln)	NC_000010.10:g.14978549G>T	VUS	1 lab	e19bd9e648
22:36689916 MYH9 C>T	22	36689916	36689916	C	T	MYH9	c.3838-7G>A	NM_002473.5	NP_002464.1:p.?	NC_000022.10:g.36689916C>T	VUS	1 lab	e1ad362a49
21:35742889 KCNE2 C>A	21	35742889	35742889	C	A	KCNE2	c.112C>A	NM_172201.1	NP_751951.1:p.(Gln38Lys)	NC_000021.8:g.35742889C>A	VUS	1 lab	1648ba1f97
1:114500901 HIPK1 C>T	1	114500901	114500901	C	T	HIPK1	c.1969C>T	NM_198268.3	NP_938009.1:p.(Pro657Ser)	NC_000001.10:g.114500901C>T	VUS	1 lab	e19de07696
11:533774 HRAS G>A	11	533774	533774	G	A	HRAS	c.282C>T	NM_176795.4	NP_789765.1:p.(His94=)	NC_000011.9:g.533774G>A	(Likely) benign	1 lab	164dd7b719
1:152282267 FLG G>A	1	152282267	152282267	G	A	FLG	c.5095C>T	NM_002016.1	NP_002007.1:p.(Arg1699Cys)	NC_000001.10:g.152282267G>A	(Likely) benign	1 lab	e1a6070ca9
X:41064648 USP9X C>G	X	41064648	41064648	C	G	USP9X	c.4917C>G	NM_001039590.2	NP_001034679.2:p.(Tyr1639Ter)	NC_000023.10:g.41064648C>G	(Likely) pathogenic	1 lab	e1a715d4cf
1:216051082 USH2A T>C	1	216051082	216051082	T	C	USH2A	c.8681+18A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216051082T>C	(Likely) benign	1 lab	e1a8748786
19:7607968 PNPLA6 C>T	19	7607968	7607968	C	T	PNPLA6	c.1489C>T	NM_006702.5	NP_006693.3:p.(Gln497Ter)	NC_000019.9:g.7607968C>T	(Likely) pathogenic	1 lab	e1a95fa30e
12:56384479 MISSING G>A	12	56384479	56384479	G	A	MISSING				NC_000012.11:g.56384479G>A	VUS	1 lab	e21bd09a79
13:21205140 IFT88 A>T	13	21205140	21205140	A	T	IFT88	c.1327-15A>T	NM_175605.5	NP_783195.2:p.?	NC_000013.10:g.21205140A>T	(Likely) benign	1 lab	142844ab76
12:21997448 ABCC9 C>T	12	21997448	21997448	C	T	ABCC9	c.3284G>A	NM_020297.4	NP_064693.2:p.(Arg1095His)	NC_000012.11:g.21997448C>T	(Likely) pathogenic	1 lab	e1b443e461
10:18822993 CACNB2 C>T	10	18822993	18822993	C	T	CACNB2	c.890-12C>T	NM_000724.4	NP_000715.2:p.?	NC_000010.10:g.18822993C>T	(Likely) benign	1 lab	1651cf3f18
X:107815059 COL4A5 G>A	X	107815059	107815059	G	A	COL4A5	c.457G>A	NM_033380.2	NP_203699.1:p.(Gly153Ser)	NC_000023.10:g.107815059G>A	(Likely) pathogenic	1 lab	e1b58e7705
12:25380280 KRAS C>G	12	25380280	25380280	C	G	KRAS	c.178G>C	NM_004985.5	NP_004976.2:p.(Gly60Arg)	NC_000012.11:g.25380280C>G	(Likely) pathogenic	1 lab	142b571ddd
2:167300128 SCN7A T>C	2	167300128	167300128	T	C	SCN7A	c.1685A>G	NM_002976.3	NP_002967.2:p.(Tyr562Cys)	NC_000002.11:g.167300128T>C	(Likely) benign	1 lab	e1b8624508
15:63334980 TPM1 TCGCCCCGCCGCTCCTGCTGCAGCCCCAGGGCCCCTCGCCGC>T	15	63334980	63335025	TCGCCCCGCCGCTCCTGCTGCAGCCCCAGGGCCCCTCGCCGC	T	TPM1	c.-44_-4del	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63334985_63335025del	(Likely) benign	1 lab	e1b9db2ee0
2:65540734 SPRED2 G>GA	2	65540734	65540737	G	GA	SPRED2	c.1157dup	NM_181784.3	NP_861449.2:p.(Leu387ProfsTer90)	NC_000002.11:g.65540737dup	VUS	1 lab	e1baa16685
6:43497064 POLR1C G>A	6	43497064	43497064	G	A	POLR1C	c.1000G>A	NM_001318876.1	NP_001305805.1:p.(Gly334Arg)	NC_000006.11:g.43497064G>A	(Likely) benign	1 lab	e1bcda19b3
2:170115672 LRP2 A>G	2	170115672	170115672	A	G	LRP2	c.2376T>C	NM_004525.2	NP_004516.2:p.(Asp792=)	NC_000002.11:g.170115672A>G	(Likely) benign	1 lab	e1bcfe59d7
11:61719303 BEST1 G>A	11	61719303	61719303	G	A	BEST1	c.25G>A	NM_004183.3	NP_004174.1:p.(Val9Met)	NC_000011.9:g.61719303G>A	(Likely) pathogenic	1 lab	e1bfb0f82c
12:13769540 GRIN2B G>A	12	13769540	13769540	G	A	GRIN2B	c.1177C>T	NM_000834.5	NP_000825.2:p.(Arg393Ter)	NC_000012.11:g.13769540G>A	(Likely) pathogenic	1 lab	e1c1c47850
1:215963556 USH2A C>G	1	215963556	215963556	C	G	USH2A	c.10027G>C	NM_206933.4	NP_996816.3:p.(Glu3343Gln)	NC_000001.10:g.215963556C>G	VUS	1 lab	e1c5a19350
1:111146540 KCNA2 A>G	1	111146540	111146540	A	G	KCNA2	c.865T>C	NM_004974.3	NP_004965.1:p.(Ser289Pro)	NC_000001.10:g.111146540A>G	VUS	1 lab	e1cac9158d
13:20763332 GJB2 C>A	13	20763332	20763332	C	A	GJB2	c.389G>T	NM_004004.5	NP_003995.2:p.(Gly130Val)	NC_000013.10:g.20763332C>A	VUS	1 lab	e1cbca4fa5
1:68903942 RPE65 C>T	1	68903942	68903942	C	T	RPE65	c.1056G>A	NM_000329.3	NP_000320.1:p.(Glu352=)	NC_000001.10:g.68903942C>T	(Likely) benign	1 lab	e1ccc91739
13:32912203 BRCA2 T>C	13	32912203	32912203	T	C	BRCA2	c.3711T>C	NM_000059.3	NP_000050.2:p.(Ala1237=)	NC_000013.10:g.32912203T>C	(Likely) benign	1 lab	e1ccf490d4
12:133218451 POLE C>T	12	133218451	133218451	C	T	POLE	c.5174-14G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133218451C>T	(Likely) benign	1 lab	e1cd42087a
3:124456742 UMPS G>C	3	124456742	124456742	G	C	UMPS	c.638G>C	NM_000373.4	NP_000364.1:p.(Gly213Ala)	NC_000003.11:g.124456742G>C	(Likely) benign	1 lab	e1cdd6779a
19:42472989 ATP1A3 C>T	19	42472989	42472989	C	T	ATP1A3	c.2767G>A	NM_152296.4	NP_689509.1:p.(Asp923Asn)	NC_000019.9:g.42472989C>T	(Likely) pathogenic	1 lab	e1ce68b84a
4:114186047 ANK2 T>C	4	114186047	114186047	T	C	ANK2	c.1387-6T>C	NM_001148.5	NP_001139.3:p.?	NC_000004.11:g.114186047T>C	(Likely) benign	1 lab	e1ceffeab3
2:136608747 MCM6 G>A	2	136608747	136608747	G	A	MCM6	c.1917+225C>T	NM_005915.6	NP_005906.2:p.?	NC_000002.11:g.136608747G>A	(Likely) benign	1 lab	e1d060f16d
3:120365083 HGD C>T	3	120365083	120365083	C	T	HGD	c.649+31G>A	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120365083C>T	(Likely) benign	1 lab	e1d1dc8894
11:124750447 ROBO3 CCGGAGT>C	11	124750447	124750460	CCGGAGT	C	ROBO3	c.4100_4105del	NM_022370.4	NP_071765.2:p.(Arg1367_Ser1368del)	NC_000011.9:g.124750455_124750460del	(Likely) benign	1 lab	142dc8cc65
11:108183149 ATM T>A	11	108183149	108183149	T	A	ATM	c.5930T>A	NM_000051.4	NP_000042.3:p.(Phe1977Tyr)	NC_000011.9:g.108183149T>A	VUS	1 lab	142dec4057
1:39835745 MACF1 C>T	1	39835745	39835745	C	T	MACF1	c.6796C>T	NM_012090.5	NP_036222.3:p.(Arg2266Trp)	NC_000001.10:g.39835745C>T	VUS	1 lab	142ea2f808
5:240574 SDHA C>T	5	240574	240574	C	T	SDHA	c.1534C>T	NM_004168.2	NP_004159.2:p.(Arg512Ter)	NC_000005.9:g.240574C>T	(Likely) pathogenic	1 lab	e1d37f0b8b
2:179485291 TTN G>C	2	179485291	179485291	G	C	TTN	c.45957C>G	NM_001267550.2	NP_001254479.2:p.(Val15319=)	NC_000002.11:g.179485291G>C	(Likely) benign	1 lab	e1d51e244a
X:153592935 FLNA C>T	X	153592935	153592935	C	T	FLNA	c.1981G>A	NM_001110556.1	NP_001104026.1:p.(Ala661Thr)	NC_000023.10:g.153592935C>T	(Likely) benign	1 lab	e1d58eafbf
19:46269294 SIX5 A>G	19	46269294	46269294	A	G	SIX5	c.1685T>C	NM_175875.4	NP_787071.2:p.(Ile562Thr)	NC_000019.9:g.46269294A>G	(Likely) benign	1 lab	e1d5b69344
X:38156660 RPGR T>C	X	38156660	38156660	T	C	RPGR	c.1291A>G	NM_001034853.1	NP_001030025.1:p.(Ile431Val)	NC_000023.10:g.38156660T>C	(Likely) benign	1 lab	e1d9bf60f3
9:14750126 FREM1 T>C	9	14750126	14750126	T	C	FREM1	c.5556A>G	NM_144966.5	NP_659403.4:p.(Gly1852=)	NC_000009.11:g.14750126T>C	VUS	1 lab	1652ebec4c
2:50858257 NRXN1 T>G	2	50858257	50858257	T	G	NRXN1	c.833-7504A>C	NM_004801.5	NP_004792.1:p.?	NC_000002.11:g.50858257T>G	(Likely) benign	1 lab	1842160cad
14:36987067 NKX2-1 G>A	14	36987067	36987067	G	A	NKX2-1	c.622C>T	NM_001079668.2	NP_001073136.1:p.(Arg208Ter)	NC_000014.8:g.36987067G>A	(Likely) pathogenic	1 lab	e1dd3c4511
9:109691454 ZNF462 C>T	9	109691454	109691454	C	T	ZNF462	c.5261C>T	NM_021224.6	NP_067047.4:p.(Pro1754Leu)	NC_000009.11:g.109691454C>T	VUS	1 lab	142ee77178
17:18069748 MYO15A C>T	17	18069748	18069748	C	T	MYO15A	c.9861C>T	NM_016239.4	NP_057323.3:p.(Gly3287=)	NC_000017.10:g.18069748C>T	(Likely) pathogenic	1 lab	e1e041cd46
1:171061915 FMO3 G>A	1	171061915	171061915	G	A	FMO3	c.116G>A	NM_001002294.3	NP_001002294.1:p.(Gly39Asp)	NC_000001.10:g.171061915G>A	(Likely) pathogenic	1 lab	e1e6ad4293
14:23855609 MYH6 T>C	14	23855609	23855609	T	C	MYH6	c.4874A>G	NM_002471.4	NP_002462.2:p.(Asn1625Ser)	NC_000014.8:g.23855609T>C	VUS	1 lab	1432482eb6
1:94463488 ABCA4 G>A	1	94463488	94463488	G	A	ABCA4	c.6658C>T	NM_000350.2	NP_000341.2:p.(Gln2220Ter)	NC_000001.10:g.94463488G>A	(Likely) pathogenic	1 lab	e1ee4c7d8a
10:73498405 CDH23 G>A	10	73498405	73498405	G	A	CDH23	c.4359+1G>A	NM_022124.5	NP_071407.4:p.?	NC_000010.10:g.73498405G>A	(Likely) pathogenic	1 lab	e1f1d23474
12:49425230 KMT2D G>A	12	49425230	49425230	G	A	KMT2D	c.13258C>T	NM_003482.4	NP_003473.3:p.(Arg4420Trp)	NC_000012.11:g.49425230G>A	(Likely) benign	1 lab	1435142aa5
1:215824022 USH2A A>C	1	215824022	215824022	A	C	USH2A				NC_000001.10:g.215824022A>C	VUS	1 lab	e1f70e92e8
X:119571073 LAMP2 G>A	X	119571073	119571073	G	A	LAMP2	c.*1936C>T	NM_013995.2	NP_054701.1:p.?	NC_000023.10:g.119571073G>A	(Likely) benign	1 lab	e1fb7ca927
X:110439840 PAK3 C>A	X	110439840	110439840	C	A	PAK3	c.1487C>A	NM_001128168.1	NP_001121640.1:p.(Pro496His)	NC_000023.10:g.110439840C>A	(Likely) pathogenic	1 lab	e1fefaf106
2:179577483 TTN G>A	2	179577483	179577483	G	A	TTN				NC_000002.11:g.179577483G>A	(Likely) benign	1 lab	e1fff1c3c4
7:43810764 BLVRA G>A	7	43810764	43810764	G	A	BLVRA	c.7G>A	NM_001253823.2	NP_001240752.1:p.(Ala3Thr)	NC_000007.13:g.43810764G>A	(Likely) benign	1 lab	14357c73c5
11:120998812 TECTA G>A	11	120998812	120998812	G	A	TECTA				NC_000011.9:g.120998812G>A	VUS	1 lab	e201235591
9:140056658 GRIN1 A>G	9	140056658	140056658	A	G	GRIN1	c.1730A>G	NM_001185090.1	NP_001172019.1:p.(Gln577Arg)	NC_000009.11:g.140056658A>G	(Likely) pathogenic	1 lab	e2065a9906
6:51640642 PKHD1 G>A	6	51640642	51640642	G	A	PKHD1	c.8518C>T	NM_138694.4	NP_619639.3:p.(Arg2840Cys)	NC_000006.11:g.51640642G>A	(Likely) pathogenic	1 lab	e206bc87cc
2:241658418 KIF1A C>T	2	241658418	241658418	C	T	KIF1A	c.5214+5G>A	NM_001244008.1	NP_001230937.1:p.?	NC_000002.11:g.241658418C>T	VUS	1 lab	e206eb4165
1:226074594 LEFTY1 C>T	1	226074594	226074594	C	T	LEFTY1	c.934G>A	NM_020997.4	NP_066277.1:p.(Gly312Arg)	NC_000001.10:g.226074594C>T	(Likely) benign	1 lab	14364713d1
20:6065922 FERMT1 C>T	20	6065922	6065922	C	T	FERMT1	c.1384G>A	NM_017671.5	NP_060141.3:p.(Ala462Thr)	NC_000020.10:g.6065922C>T	VUS	1 lab	1436a96971
15:73660024 HCN4 G>A	15	73660024	73660024	G	A	HCN4	c.588C>T	NM_005477.2	NP_005468.1:p.(Ala196=)	NC_000015.9:g.73660024G>A	(Likely) benign	1 lab	e20d8d0b9d
1:201869461 LMOD1 C>T	1	201869461	201869461	C	T	LMOD1	c.680G>A	NM_012134.3	NP_036266.2:p.(Arg227His)	NC_000001.10:g.201869461C>T	(Likely) benign	1 lab	16564a5046
2:166852518 SCN1A C>T	2	166852518	166852518	C	T	SCN1A	c.4581+5G>A	NM_001165963.1	NP_001159435.1:p.?	NC_000002.11:g.166852518C>T	(Likely) pathogenic	1 lab	e2119bb161
10:104592368 CYP17A1 G>A	10	104592368	104592368	G	A	CYP17A1	c.1039C>T	NM_000102.4	NP_000093.1:p.(Arg347Cys)	NC_000010.10:g.104592368G>A	(Likely) pathogenic	1 lab	e211bea414
8:61774752 CHD7 C>T	8	61774752	61774752	C	T	CHD7	c.7831-3C>T	NM_017780.3	NP_060250.2:p.?	NC_000008.10:g.61774752C>T	(Likely) benign	1 lab	e2123f1b88
10:70182570 DNA2 A>C	10	70182570	70182570	A	C	DNA2	c.2286T>G	NM_001080449.3	NP_001073918.2:p.(Asp762Glu)	NC_000010.10:g.70182570A>C	VUS	1 lab	e214737ac2
10:18816530 CACNB2 A>G	10	18816530	18816530	A	G	CACNB2	c.958A>G	NM_201596.2	NP_963890.2:p.(Arg320Gly)	NC_000010.10:g.18816530A>G	VUS	1 lab	e2164c666a
19:852944 ELANE T>C	19	852944	852944	T	C	ELANE	c.136T>C	NM_001972.4	NP_001963.1:p.(Ser46Pro)	NC_000019.9:g.852944T>C	(Likely) pathogenic	1 lab	e2168b54e4
21:35883490 KCNE1 T>C	21	35883490	35883490	T	C	KCNE1	c.-253A>G	NM_000219.5	NP_000210.2:p.?	NC_000021.8:g.35883490T>C	(Likely) benign	1 lab	e21c46b3bb
14:88852181 SPATA7 G>T	14	88852181	88852181	G	T	SPATA7	c.19G>T	NM_018418.5	NP_060888.2:p.(Val7Phe)	NC_000014.8:g.88852181G>T	VUS	1 lab	e21d64ad9d
12:6710875 CHD4 C>T	12	6710875	6710875	C	T	CHD4	c.496G>A	NM_001273.5	NP_001264.2:p.(Val166Met)	NC_000012.11:g.6710875C>T	VUS	1 lab	143714306b
14:104129236 KLC1 A>G	14	104129236	104129236	A	G	KLC1	c.769A>G	NM_001130107.1	NP_001123579.1:p.(Met257Val)	NC_000014.8:g.104129236A>G	VUS	1 lab	e21ff04a94
2:220432014 OBSL1 G>A	2	220432014	220432014	G	A	OBSL1	c.1818C>T	NM_015311.2	NP_056126.1:p.(Phe606=)	NC_000002.11:g.220432014G>A	(Likely) benign	1 lab	e23476b5d4
X:29973568 IL1RAPL1 T>A	X	29973568	29973568	T	A	IL1RAPL1				NC_000023.10:g.29973568T>A	VUS	1 lab	e222efa2a1
17:45384980 ITGB3 C>T	17	45384980	45384980	C	T	ITGB3	c.2278C>T	NM_000212.2	NP_000203.2:p.(Arg760Cys)	NC_000017.10:g.45384980C>T	(Likely) pathogenic	1 lab	e2230f5a7a
15:44943713 SPG11 G>A	15	44943713	44943713	G	A	SPG11	c.1432C>T	NM_025137.3	NP_079413.3:p.(Gln478Ter)	NC_000015.9:g.44943713G>A	(Likely) pathogenic	1 lab	e223730bff
1:214171254 PROX1 G>A	1	214171254	214171254	G	A	PROX1	c.1376G>A	NM_001270616.2	NP_001257545.1:p.(Gly459Asp)	NC_000001.10:g.214171254G>A	VUS	1 lab	143852ac34
1:152284171 FLG C>T	1	152284171	152284171	C	T	FLG	c.3191G>A	NM_002016.2	NP_002007.1:p.(Trp1064Ter)	NC_000001.10:g.152284171C>T	(Likely) pathogenic	1 lab	e225b739d7
16:2214008 TRAF7 G>A	16	2214008	2214008	G	A	TRAF7	c.81+6G>A	NM_032271.3	NP_115647.2:p.?	NC_000016.9:g.2214008G>A	(Likely) benign	1 lab	143b9830f3
17:4802685 CHRNE G>A	17	4802685	4802685	G	A	CHRNE	c.1033-6C>T	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4802685G>A	(Likely) benign	1 lab	e2271cf539
18:28660187 DSC2 C>G	18	28660187	28660187	C	G	DSC2	c.1395G>C	NM_024422.3	NP_077740.1:p.(Gln465His)	NC_000018.9:g.28660187C>G	(Likely) benign	1 lab	e227330306
8:103220372 RRM2B C>T	8	103220372	103220372	C	T	RRM2B	c.1045G>A	NM_015713.4	NP_056528.2:p.(Ala349Thr)	NC_000008.10:g.103220372C>T	VUS	1 lab	e22c27ca0c
3:129252502 RHO G>A	3	129252502	129252502	G	A	RHO	c.988G>A	NM_000539.3	NP_000530.1:p.(Asp330Asn)	NC_000003.11:g.129252502G>A	VUS	1 lab	e22df798d6
17:79477831 ACTG1 G>A	17	79477831	79477831	G	A	ACTG1	c.1013C>T	NM_001614.3	NP_001605.1:p.(Ser338Leu)	NC_000017.10:g.79477831G>A	VUS	1 lab	e22ff11e06
9:136440078 ADAMTSL2 G>A	9	136440078	136440078	G	A	ADAMTSL2	c.*92G>A	NM_014694.3	NP_055509.2:p.?	NC_000009.11:g.136440078G>A	(Likely) benign	1 lab	e231a5b70f
2:179495789 TTN A>C	2	179495789	179495789	A	C	TTN	c.39063T>G	NM_001256850.1	NP_001243779.1:p.(Asp13021Glu)	NC_000002.11:g.179495789A>C	VUS	1 lab	143e574c76
19:1220505 STK11 G>T	19	1220505	1220505	G	T	STK11	c.597+1G>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1220505G>T	(Likely) pathogenic	1 lab	146f3c9467
2:32368468 SPAST C>G	2	32368468	32368468	C	G	SPAST	c.1600C>G	NM_014946.3	NP_055761.2:p.(Leu534Val)	NC_000002.11:g.32368468C>G	VUS	1 lab	e2349c4f66
17:4836973 GP1BA A>G	17	4836973	4836973	A	G	GP1BA	c.1074A>G	NM_000173.5	NP_000164.5:p.(Arg358=)	NC_000017.10:g.4836973A>G	(Likely) benign	1 lab	e234be9e74
3:37038223 MLH1 A>C	3	37038223	37038223	A	C	MLH1	c.207+23A>C	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37038223A>C	(Likely) benign	1 lab	e234dd60ec
11:34952961 PDHX T>G	11	34952961	34952961	T	G	PDHX	c.171T>G	NM_003477.3	NP_003468.2:p.(Ile57Met)	NC_000011.9:g.34952961T>G	VUS	1 lab	143ec7e762
3:150645894 CLRN1 A>C	3	150645894	150645894	A	C	CLRN1				NC_000003.11:g.150645894A>C	(Likely) pathogenic	1 lab	e238383395
19:12758082 MAN2B1 TC>T	19	12758082	12758083	TC	T	MAN2B1	c.2887del	NM_000528.4	NP_000519.2:p.(Glu963ArgfsTer70)	NC_000019.9:g.12758083del	(Likely) pathogenic	1 lab	e2395ec3a9
6:7580949 DSP G>A	6	7580949	7580949	G	A	DSP	c.4526G>A	NM_004415.4	NP_004406.2:p.(Arg1509Lys)	NC_000006.11:g.7580949G>A	(Likely) benign	1 lab	e23973d22e
16:15843965 MYH11 G>A	16	15843965	15843965	G	A	MYH11	c.2079+30C>T	NM_001040114.1	NP_001035203.1:p.?	NC_000016.9:g.15843965G>A	(Likely) benign	1 lab	e23b9177a4
12:2763065 CACNA1C A>G	12	2763065	2763065	A	G	CACNA1C	c.4139A>G	NM_000719.6	NP_000710.5:p.(Gln1380Arg)	NC_000012.11:g.2763065A>G	VUS	1 lab	e23c20d159
2:109368368 RANBP2 A>C	2	109368368	109368368	A	C	RANBP2	c.1673A>C	NM_006267.5	NP_006258.3:p.(Glu558Ala)	NC_000002.11:g.109368368A>C	VUS	1 lab	143f0637a6
1:230850018 AGT C>T	1	230850018	230850018	C	T	AGT	c.-190G>A	NM_000029.3	NP_000020.1:p.?	NC_000001.10:g.230850018C>T	(Likely) benign	1 lab	e23d4942e9
2:227895285 COL4A4 T>G	2	227895285	227895285	T	G	COL4A4	c.3847A>C	NM_000092.4	NP_000083.3:p.(Ser1283Arg)	NC_000002.11:g.227895285T>G	VUS	1 lab	e23e64bac4
19:11136144 SMARCA4 G>A	19	11136144	11136144	G	A	SMARCA4	c.3128G>A	NM_003072.5	NP_003063.2:p.(Arg1043Gln)	NC_000019.9:g.11136144G>A	(Likely) pathogenic	1 lab	e24241e925
20:8352123 PLCB1 A>G	20	8352123	8352123	A	G	PLCB1	c.246+26A>G	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8352123A>G	(Likely) benign	1 lab	16580b1a32
15:91312816 BLM T>C	15	91312816	91312816	T	C	BLM				NC_000015.9:g.91312816T>C	(Likely) benign	1 lab	e244163f11
11:118355031 KMT2A T>A	11	118355031	118355031	T	A	KMT2A	c.4218+2T>A	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118355031T>A	(Likely) pathogenic	1 lab	e2460e822a
9:133355236 ASS1 C>T	9	133355236	133355236	C	T	ASS1	c.773+49C>T	NM_000050.4	NP_000041.2:p.?	NC_000009.11:g.133355236C>T	(Likely) pathogenic	1 lab	e247853730
13:32911479 BRCA2 T>G	13	32911479	32911479	T	G	BRCA2	c.2987T>G	NM_000059.3	NP_000050.2:p.(Leu996Arg)	NC_000013.10:g.32911479T>G	(Likely) benign	1 lab	e24797c29d
15:48808422 FBN1 G>A	15	48808422	48808422	G	A	FBN1	c.1285C>T	NM_000138.4	NP_000129.3:p.(Arg429Ter)	NC_000015.9:g.48808422G>A	VUS	1 lab	e24908f77f
12:52096590 SCN8A A>T	12	52096590	52096590	A	T	SCN8A	c.1026A>T	NM_001330260.2	NP_001317189.1:p.(Ala342=)	NC_000012.11:g.52096590A>T	(Likely) benign	1 lab	e24b06039d
7:75684326 MDH2 G>A	7	75684326	75684326	G	A	MDH2	c.235+10G>A	NM_005918.4	NP_005909.2:p.?	NC_000007.13:g.75684326G>A	(Likely) benign	1 lab	e24f57b597
12:80663952 OTOGL G>A	12	80663952	80663952	G	A	OTOGL	c.2491+18G>A	NM_173591.3	NP_775862.3:p.?	NC_000012.11:g.80663952G>A	(Likely) benign	1 lab	e25122ea93
1:196952092 CFHR5 C>T	1	196952092	196952092	C	T	CFHR5	c.136C>T	NM_030787.3	NP_110414.1:p.(Pro46Ser)	NC_000001.10:g.196952092C>T	(Likely) benign	1 lab	e255ce4bee
3:133657303 SLCO2A1 C>T	3	133657303	133657303	C	T	SLCO2A1	c.1660G>A	NM_005630.2	NP_005621.2:p.(Gly554Arg)	NC_000003.11:g.133657303C>T	VUS	1 lab	e257e691d0
2:47630496 MSH2 G>T	2	47630496	47630496	G	T	MSH2	c.166G>T	NM_000251.2	NP_000242.1:p.(Glu56Ter)	NC_000002.11:g.47630496G>T	(Likely) pathogenic	1 lab	e2596a3cf8
8:41804141 KAT6A C>T	8	41804141	41804141	C	T	KAT6A	c.1964G>A	NM_006766.5	NP_006757.2:p.(Arg655His)	NC_000008.10:g.41804141C>T	VUS	1 lab	144148b509
19:55668410 TNNI3 C>A	19	55668410	55668410	C	A	TNNI3	c.108+8G>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668410C>A	VUS	1 lab	e25ec6e96e
18:31324759 ASXL3 C>A	18	31324759	31324759	C	A	ASXL3	c.4947C>A	NM_030632.3	NP_085135.1:p.(Tyr1649Ter)	NC_000018.9:g.31324759C>A	(Likely) pathogenic	1 lab	14418a1039
12:52115463 SCN8A C>T	12	52115463	52115463	C	T	SCN8A	c.1769C>T	NM_014191.3	NP_055006.1:p.(Thr590Met)	NC_000012.11:g.52115463C>T	VUS	1 lab	e26433e224
2:179554526 TTN G>A	2	179554526	179554526	G	A	TTN	c.31846+14C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179554526G>A	(Likely) benign	1 lab	165c4c6226
13:32914823 BRCA2 A>G	13	32914823	32914823	A	G	BRCA2	c.6331A>G	NM_000059.3	NP_000050.2:p.(Lys2111Glu)	NC_000013.10:g.32914823A>G	(Likely) benign	1 lab	e2657b793e
1:114443899 AP4B1 G>A	1	114443899	114443899	G	A	AP4B1				NC_000001.10:g.114443899G>A	(Likely) benign	1 lab	e2fe5aeb0f
9:36227394 GNE C>A	9	36227394	36227394	C	A	GNE	c.1132G>T	NM_005476.5	NP_005467.1:p.(Asp378Tyr)	NC_000009.11:g.36227394C>A	(Likely) pathogenic	1 lab	e26edc9faf
2:228141097 COL4A3 T>C	2	228141097	228141097	T	C	COL4A3	c.1928-4T>C	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228141097T>C	(Likely) benign	1 lab	e26f4bff74
12:2774080 CACNA1C C>T	12	2774080	2774080	C	T	CACNA1C	c.4322C>T	NM_000719.6	NP_000710.5:p.(Thr1441Met)	NC_000012.11:g.2774080C>T	VUS	1 lab	e26f50a34b
22:50665234 TUBGCP6 A>C	22	50665234	50665234	A	C	TUBGCP6	c.1529T>G	NM_020461.3	NP_065194.2:p.(Leu510Arg)	NC_000022.10:g.50665234A>C	VUS	1 lab	e2709c817c
2:227922321 COL4A4 A>G	2	227922321	227922321	A	G	COL4A4	c.2384-5T>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227922321A>G	(Likely) benign	1 lab	e2721968aa
X:18665349 RS1 C>T	X	18665349	18665349	C	T	RS1	c.288G>A	NM_000330.4	NP_000321.1:p.(Trp96Ter)	NC_000023.10:g.18665349C>T	(Likely) pathogenic	1 lab	e272283b4a
11:123513178 SCN3B T>C	11	123513178	123513178	T	C	SCN3B	c.421A>G	NM_018400.3	NP_060870.1:p.(Ile141Val)	NC_000011.9:g.123513178T>C	VUS	1 lab	e2730f0d5a
12:6134877 VWF G>A	12	6134877	6134877	G	A	VWF	c.3109-18C>T	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6134877G>A	(Likely) benign	1 lab	e2776ebd42
22:29876855 NEFH CT>C	22	29876855	29876856	CT	C	NEFH	c.605del	NM_021076.4	NP_066554.2:p.(Leu202ArgfsTer62)	NC_000022.10:g.29876856del	(Likely) pathogenic	1 lab	144591fca5
2:179569261 TTN C>T	2	179569261	179569261	C	T	TTN	c.29938G>A	NM_001267550.2	NP_001254479.2:p.(Ala9980Thr)	NC_000002.11:g.179569261C>T	(Likely) benign	1 lab	e27d52c586
10:89692929 PTEN A>G	10	89692929	89692929	A	G	PTEN	c.413A>G	NM_000314.4	NP_000305.3:p.(Tyr138Cys)	NC_000010.10:g.89692929A>G	(Likely) pathogenic	1 lab	e27f2bd906
11:111779658 CRYAB T>C	11	111779658	111779658	T	C	CRYAB	c.358A>G	NM_001885.2	NP_001876.1:p.(Arg120Gly)	NC_000011.9:g.111779658T>C	(Likely) pathogenic	1 lab	e2807c0bf4
18:28647848 DSC2 C>T	18	28647848	28647848	C	T	DSC2	c.*133G>A	NM_024422.3	NP_077740.1:p.?	NC_000018.9:g.28647848C>T	(Likely) benign	1 lab	e280ddaa5d
16:16244585 ABCC6 C>T	16	16244585	16244585	C	T	ABCC6	c.4253G>A	NM_001171.5	NP_001162.4:p.(Arg1418Gln)	NC_000016.9:g.16244585C>T	VUS	1 lab	e28124cbca
3:37053356 MLH1 A>T	3	37053356	37053356	A	T	MLH1	c.588+3A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37053356A>T	(Likely) pathogenic	1 lab	e281bfd2c1
16:20359544 UMOD C>T	16	20359544	20359544	C	T	UMOD	c.973+1G>A	NM_003361.3	NP_003352.2:p.?	NC_000016.9:g.20359544C>T	(Likely) benign	1 lab	e282351048
X:107936080 COL4A5 G>C	X	107936080	107936080	G	C	COL4A5	c.4631G>C	NM_033380.2	NP_203699.1:p.(Trp1544Ser)	NC_000023.10:g.107936080G>C	(Likely) pathogenic	1 lab	e287c32ffc
12:80648963 OTOGL C>T	12	80648963	80648963	C	T	OTOGL				NC_000012.11:g.80648963C>T	(Likely) pathogenic	1 lab	e28aeb56a5
X:18665421 RS1 C>G	X	18665421	18665421	C	G	RS1	c.216G>C	NM_000330.4	NP_000321.1:p.(Glu72Asp)	NC_000023.10:g.18665421C>G	(Likely) pathogenic	1 lab	e28d071ad0
12:6143909 VWF G>A	12	6143909	6143909	G	A	VWF	c.2630C>T	NM_000552.3	NP_000543.2:p.(Thr877Ile)	NC_000012.11:g.6143909G>A	VUS	1 lab	e28dba52d4
15:63362256 TPM1 A>G	15	63362256	63362256	A	G	TPM1	c.*114A>G	NM_001018008.1	NP_001018008.1:p.?	NC_000015.9:g.63362256A>G	VUS	1 lab	e29727d252
5:112151249 APC C>CA	5	112151249	112151250	C	CA	APC	c.893dup	NM_000038.6	NP_000029.2:p.(His298GlnfsTer29)	NC_000005.9:g.112151250dup	(Likely) pathogenic	1 lab	e2977ee090
4:3475345 DOK7 C>T	4	3475345	3475345	C	T	DOK7	c.313C>T	NM_173660.5	NP_775931.3:p.(Arg105Cys)	NC_000004.11:g.3475345C>T	VUS	1 lab	e2986b2188
X:73962262 NEXMIF C>T	X	73962262	73962262	C	T	NEXMIF	c.2130G>A	NM_001008537.3	NP_001008537.1:p.(Lys710=)	NC_000023.10:g.73962262C>T	(Likely) benign	1 lab	16639a36be
X:18622765 CDKL5 C>T	X	18622765	18622765	C	T	CDKL5	c.1721C>T	NM_003159.3	NP_003150.1:p.(Pro574Leu)	NC_000023.10:g.18622765C>T	(Likely) benign	1 lab	144d4de003
X:76763879 MISSING G>T	X	76763879	76763879	G	T	MISSING				NC_000023.10:g.76763879G>T	VUS	1 lab	e29a807b6c
7:151254337 PRKAG2 T>A	7	151254337	151254337	T	A	PRKAG2	c.1679-19A>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151254337T>A	(Likely) benign	1 lab	16643183d9
17:37829353 PGAP3 G>A	17	37829353	37829353	G	A	PGAP3	c.850C>T	NM_033419.4	NP_219487.3:p.(His284Tyr)	NC_000017.10:g.37829353G>A	VUS	1 lab	e29d246443
6:7727588 BMP6 C>G	6	7727588	7727588	C	G	BMP6	c.400C>G	NM_001718.6	NP_001709.1:p.(Leu134Val)	NC_000006.11:g.7727588C>G	VUS	1 lab	e29e1e480f
X:71493691 RPS4X C>T	X	71493691	71493691	C	T	RPS4X	c.492G>A	NM_001007.5	NP_000998.1:p.(Leu164=)	NC_000023.10:g.71493691C>T	(Likely) benign	1 lab	144fd3e3ad
2:191862749 STAT1 G>A	2	191862749	191862749	G	A	STAT1	c.634-16C>T	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191862749G>A	(Likely) benign	1 lab	16658568c2
X:15349440 PIGA C>T	X	15349440	15349440	C	T	PIGA	c.613G>A	NM_002641.3	NP_002632.1:p.(Val205Ile)	NC_000023.10:g.15349440C>T	(Likely) benign	1 lab	e2a56a1a3d
12:31253995 DDX11 C>T	12	31253995	31253995	C	T	DDX11	c.1983C>T	NM_030653.4	NP_085911.2:p.(Leu661=)	NC_000012.11:g.31253995C>T	(Likely) benign	1 lab	1452d18ac7
1:3347431 PRDM16 T>G	1	3347431	3347431	T	G	PRDM16	c.3285-5T>G	NM_022114.3	NP_071397.3:p.?	NC_000001.10:g.3347431T>G	(Likely) benign	1 lab	e2a82aa6c7
2:198364724 HSPD1 C>T	2	198364724	198364724	C	T	HSPD1				NC_000002.11:g.198364724C>T	(Likely) benign	1 lab	e2a97d115d
18:53017619 TCF4 G>A	18	53017619	53017619	G	A	TCF4	c.520C>T	NM_001083962.1	NP_001077431.1:p.(Arg174Ter)	NC_000018.9:g.53017619G>A	(Likely) pathogenic	1 lab	e2aa676900
1:12378388 VPS13D G>A	1	12378388	12378388	G	A	VPS13D	c.7408G>A	NM_015378.4	NP_056193.2:p.(Val2470Ile)	NC_000001.10:g.12378388G>A	VUS	1 lab	14569a3a28
5:112175221 APC G>T	5	112175221	112175221	G	T	APC	c.3930G>T	NM_000038.5	NP_000029.2:p.(Lys1310Asn)	NC_000005.9:g.112175221G>T	(Likely) benign	1 lab	e2add2e3c9
X:48762570 SLC35A2 C>T	X	48762570	48762570	C	T	SLC35A2	c.616G>A	NM_005660.1	NP_005651.1:p.(Val206Ile)	NC_000023.10:g.48762570C>T	VUS	1 lab	e2af74df34
11:118038860 SCN2B T>A	11	118038860	118038860	T	A	SCN2B	c.388A>T	NM_004588.4	NP_004579.1:p.(Met130Leu)	NC_000011.9:g.118038860T>A	(Likely) benign	1 lab	e2afbdaf2f
6:116442231 NT5DC1 C>T	6	116442231	116442231	C	T	NT5DC1				NC_000006.11:g.116442231C>T	VUS	1 lab	e2b2f49439
17:40370307 STAT5B G>C	17	40370307	40370307	G	C	STAT5B	c.1031C>G	NM_012448.4	NP_036580.2:p.(Thr344Ser)	NC_000017.10:g.40370307G>C	VUS	1 lab	e2b46baccd
16:55519701 MMP2 C>T	16	55519701	55519701	C	T	MMP2	c.832+12C>T	NM_004530.4	NP_004521.1:p.?	NC_000016.9:g.55519701C>T	(Likely) benign	1 lab	e2b68310a4
16:10031980 GRIN2A G>C	16	10031980	10031980	G	C	GRIN2A	c.843C>G	NM_000833.3	NP_000824.1:p.(Tyr281Ter)	NC_000016.9:g.10031980G>C	(Likely) pathogenic	1 lab	e2b866088d
10:26432467 MYO3A G>T	10	26432467	26432467	G	T	MYO3A				NC_000010.10:g.26432467G>T	VUS	1 lab	e2b9a43e2e
17:41277402 BRCA1 C>T	17	41277402	41277402	C	T	BRCA1	c.-134G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277402C>T	(Likely) benign	1 lab	e2ba4a8e44
14:23901869 MYH7 C>G	14	23901869	23901869	C	G	MYH7	c.481G>C	NM_000257.4	NP_000248.2:p.(Ala161Pro)	NC_000014.8:g.23901869C>G	VUS	1 lab	e2bc281d18
9:140685322 EHMT1 G>C	9	140685322	140685322	G	C	EHMT1	c.2405G>C	NM_024757.4	NP_079033.4:p.(Cys802Ser)	NC_000009.11:g.140685322G>C	VUS	1 lab	e2c18b88fc
3:100962552 IMPG2 T>G	3	100962552	100962552	T	G	IMPG2	c.2623A>C	NM_016247.3	NP_057331.2:p.(Thr875Pro)	NC_000003.11:g.100962552T>G	VUS	1 lab	e2c33db92a
14:23245301 SLC7A7 T>C	14	23245301	23245301	T	C	SLC7A7	c.894+103A>G	NM_003982.4	NP_003973.3:p.?	NC_000014.8:g.23245301T>C	(Likely) benign	1 lab	e2c46b5f6c
11:103025423 DYNC2H1 G>A	11	103025423	103025423	G	A	DYNC2H1	c.3459-1G>A	NM_001080463.1	NP_001073932.1:p.?	NC_000011.9:g.103025423G>A	(Likely) pathogenic	1 lab	e2c703d964
3:57232813 HESX1 G>C	3	57232813	57232813	G	C	HESX1	c.325C>G	NM_003865.2	NP_003856.1:p.(Arg109Gly)	NC_000003.11:g.57232813G>C	VUS	1 lab	e2ca6c3473
2:44547409 SLC3A1 ACTC>A	2	44547409	44547415	ACTC	A	SLC3A1	c.1693_1695del	NM_000341.3	NP_000332.2:p.(Leu565del)	NC_000002.11:g.44547413_44547415del	VUS	1 lab	e2cba6183a
12:62798126 USP15 G>A	12	62798126	62798126	G	A	USP15	c.1918G>A	NM_001351165.2	NP_001338094.1:p.(Glu640Lys)	NC_000012.11:g.62798126G>A	VUS	1 lab	145ae80e33
8:61777805 CHD7 G>A	8	61777805	61777805	G	A	CHD7	c.8307G>A	NM_017780.3	NP_060250.2:p.(Leu2769=)	NC_000008.10:g.61777805G>A	(Likely) benign	1 lab	e2d3541396
15:69728949 KIF23 A>G	15	69728949	69728949	A	G	KIF23	c.1443A>G	NM_138555.3	NP_612565.1:p.(Pro481=)	NC_000015.9:g.69728949A>G	(Likely) benign	1 lab	e2d3b76bf4
11:121000572 TECTA G>A	11	121000572	121000572	G	A	TECTA				NC_000011.9:g.121000572G>A	VUS	1 lab	e54648e740
2:179518077 TTN A>G	2	179518077	179518077	A	G	TTN	c.38708-29T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518077A>G	(Likely) benign	1 lab	e2d735fe97
11:66010633 PACS1 T>C	11	66010633	66010633	T	C	PACS1				NC_000011.9:g.66010633T>C	(Likely) benign	1 lab	e2d7ee9c1b
7:157160131 DNAJB6 C>G	7	157160131	157160131	C	G	DNAJB6	c.300C>G	NM_058246.4	NP_490647.1:p.(Phe100Leu)	NC_000007.13:g.157160131C>G	VUS	1 lab	e2d96c3f66
5:147491511 SPINK5 G>A	5	147491511	147491511	G	A	SPINK5	c.1820+53G>A	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147491511G>A	(Likely) pathogenic	1 lab	e2e1576ac7
8:41791073 KAT6A G>C	8	41791073	41791073	G	C	KAT6A	c.4665C>G	NM_001099412.1	NP_001092882.1:p.(Ser1555Arg)	NC_000008.10:g.41791073G>C	VUS	1 lab	e2e2c3ea03
2:47251473 TTC7A C>T	2	47251473	47251473	C	T	TTC7A	c.1616C>T	NM_020458.2	NP_065191.2:p.(Ser539Leu)	NC_000002.11:g.47251473C>T	(Likely) pathogenic	1 lab	e2e5e84932
2:223161862 PAX3 G>C	2	223161862	223161862	G	C	PAX3				NC_000002.11:g.223161862G>C	(Likely) benign	1 lab	f38f2d41f5
8:61777820 CHD7 C>G	8	61777820	61777820	C	G	CHD7	c.8322C>G	NM_017780.3	NP_060250.2:p.(Gly2774=)	NC_000008.10:g.61777820C>G	(Likely) benign	1 lab	e2e6a3c9b0
7:65439583 GUSB C>A	7	65439583	65439583	C	A	GUSB	c.1174G>T	NM_000181.3	NP_000172.2:p.(Val392Leu)	NC_000007.13:g.65439583C>A	VUS	1 lab	e2ef3e5b04
8:61763083 CHD7 C>A	8	61763083	61763083	C	A	CHD7	c.5436C>A	NM_017780.3	NP_060250.2:p.(Asp1812Glu)	NC_000008.10:g.61763083C>A	(Likely) pathogenic	1 lab	e2fa148fa9
3:121976125 CASR TCTGCAA>T	3	121976125	121976135	TCTGCAA	T	CASR	c.388_393del	NM_001178065.1	NP_001171536.1:p.(Asn130_Cys131del)	NC_000003.11:g.121976130_121976135del	(Likely) pathogenic	1 lab	e2fe4c7713
7:5567654 ACTB G>C	7	5567654	5567654	G	C	ACTB	c.965C>G	NM_001101.3	NP_001092.1:p.(Pro322Arg)	NC_000007.13:g.5567654G>C	(Likely) pathogenic	1 lab	e30065acee
4:6303641 WFS1 G>T	4	6303641	6303641	G	T	WFS1	c.2119G>T	NM_006005.3	NP_005996.2:p.(Val707Phe)	NC_000004.11:g.6303641G>T	VUS	1 lab	e303c9a0f9
11:103178483 DYNC2H1 C>T	11	103178483	103178483	C	T	DYNC2H1	c.11437C>T	NM_001080463.1	NP_001073932.1:p.(Arg3813Cys)	NC_000011.9:g.103178483C>T	VUS	1 lab	e3064b2049
10:55587280 PCDH15 G>A	10	55587280	55587280	G	A	PCDH15	c.4240C>T	NM_033056.4	NP_149045.3:p.(Arg1414Ter)	NC_000010.10:g.55587280G>A	(Likely) pathogenic	1 lab	e3090c0ecc
12:6153567 VWF C>T	12	6153567	6153567	C	T	VWF	c.2332G>A	NM_000552.3	NP_000543.2:p.(Ala778Thr)	NC_000012.11:g.6153567C>T	(Likely) benign	1 lab	e30be7af1b
X:119068519 NKAP A>G	X	119068519	119068519	A	G	NKAP	c.675T>C	NM_024528.3	NP_078804.2:p.(Asp225=)	NC_000023.10:g.119068519A>G	(Likely) benign	1 lab	e30e57a941
10:93749260 BTAF1 C>G	10	93749260	93749260	C	G	BTAF1	c.2777C>G	NM_003972.2	NP_003963.1:p.(Ser926Ter)	NC_000010.10:g.93749260C>G	VUS	1 lab	e31026450b
X:46508206 SLC9A7 C>T	X	46508206	46508206	C	T	SLC9A7	c.1374G>A	NM_032591.3	NP_115980.1:p.(Ala458=)	NC_000023.10:g.46508206C>T	(Likely) benign	1 lab	1461467601
1:229568624 ACTA1 C>A	1	229568624	229568624	C	A	ACTA1				NC_000001.10:g.229568624C>A	(Likely) pathogenic	1 lab	e312e0a80a
10:55569261 PCDH15 GCTCT>G	10	55569261	55569267	GCTCT	G	PCDH15				NC_000010.10:g.55569264_55569267del	VUS	1 lab	f3cc473716
14:102499490 DYNC1H1 G>A	14	102499490	102499490	G	A	DYNC1H1	c.10168G>A	NM_001376.5	NP_001367.2:p.(Gly3390Ser)	NC_000014.8:g.102499490G>A	VUS	1 lab	e313724ebb
X:41429000 CASK C>T	X	41429000	41429000	C	T	CASK	c.1504-1G>A	NM_003688.3	NP_003679.2:p.?	NC_000023.10:g.41429000C>T	(Likely) pathogenic	1 lab	e3139c47fa
17:43012764 MISSING C>T	17	43012764	43012764	C	T	MISSING				NC_000017.10:g.43012764C>T	VUS	1 lab	e31622ed05
16:85952390 IRF8 C>T	16	85952390	85952390	C	T	IRF8	c.969C>T	NM_002163.2	NP_002154.1:p.(Asp323=)	NC_000016.9:g.85952390C>T	(Likely) benign	1 lab	166c0ceffc
2:179569042 TTN A>G	2	179569042	179569042	A	G	TTN	c.30055T>C	NM_001267550.2	NP_001254479.2:p.(Ser10019Pro)	NC_000002.11:g.179569042A>G	(Likely) benign	1 lab	e321dee5e0
6:161510472 MAP3K4 C>T	6	161510472	161510472	C	T	MAP3K4	c.2942C>T	NM_005922.2	NP_005913.2:p.(Pro981Leu)	NC_000006.11:g.161510472C>T	(Likely) benign	1 lab	e32203417e
20:32873413 AHCY G>A	20	32873413	32873413	G	A	AHCY	c.1006C>T	NM_001322086.2	NP_001309015.1:p.(Arg336Cys)	NC_000020.10:g.32873413G>A	VUS	1 lab	1464ddd6b9
7:128494634 FLNC G>A	7	128494634	128494634	G	A	FLNC	c.6895G>A	NM_001458.4	NP_001449.3:p.(Gly2299Ser)	NC_000007.13:g.128494634G>A	VUS	1 lab	e32234d106
14:68271944 ZFYVE26 G>A	14	68271944	68271944	G	A	ZFYVE26	c.1261C>T	NM_015346.3	NP_056161.2:p.(Gln421Ter)	NC_000014.8:g.68271944G>A	(Likely) pathogenic	1 lab	166f477821
17:65052200 CACNG1 C>T	17	65052200	65052200	C	T	CACNG1	c.482C>T	NM_000727.3	NP_000718.1:p.(Ser161Leu)	NC_000017.10:g.65052200C>T	VUS	1 lab	e328c9f36b
12:111348928 MYL2 A>C	12	111348928	111348928	A	C	MYL2	c.454T>G	NM_000432.3	NP_000423.2:p.(Tyr152Asp)	NC_000012.11:g.111348928A>C	VUS	1 lab	e329790db7
5:112043629 APC G>T	5	112043629	112043629	G	T	APC				NC_000005.9:g.112043629G>T	(Likely) benign	1 lab	e32a3917b2
9:139391734 NOTCH1 C>T	9	139391734	139391734	C	T	NOTCH1	c.6457G>A	NM_017617.3	NP_060087.3:p.(Val2153Met)	NC_000009.11:g.139391734C>T	(Likely) benign	1 lab	e32b8d18de
2:200193612 SATB2 G>A	2	200193612	200193612	G	A	SATB2	c.1195C>T	NM_015265.4	NP_056080.1:p.(Arg399Cys)	NC_000002.11:g.200193612G>A	(Likely) pathogenic	1 lab	e32c0ea028
17:17119713 FLCN G>C	17	17119713	17119713	G	C	FLCN	c.1281C>G	NM_144997.7	NP_659434.2:p.(Pro427=)	NC_000017.10:g.17119713G>C	(Likely) benign	1 lab	e32d4aff9e
11:2591836 KCNQ1 G>A	11	2591836	2591836	G	A	KCNQ1	c.478-22G>A	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2591836G>A	(Likely) benign	1 lab	e32d66a55d
2:179593790 TTN C>T	2	179593790	179593790	C	T	TTN	c.18975G>A	NM_001267550.2	NP_001254479.2:p.(Trp6325Ter)	NC_000002.11:g.179593790C>T	VUS	1 lab	e32dec0f58
11:76885901 MYO7A G>A	11	76885901	76885901	G	A	MYO7A				NC_000011.9:g.76885901G>A	(Likely) benign	1 lab	e32eb701d2
14:36987070 NKX2-1 CCAGCTCGTA>C	14	36987070	36987081	CCAGCTCGTA	C	NKX2-1	c.610_618del	NM_001079668.2	NP_001073136.1:p.(Tyr204_Leu206del)	NC_000014.8:g.36987073_36987081del	VUS	1 lab	e3300c5b1b
6:33137838 COL11A2 G>C	6	33137838	33137838	G	C	COL11A2	c.3622C>G	NM_080680.3	NP_542411.2:p.(Pro1208Ala)	NC_000006.11:g.33137838G>C	VUS	1 lab	e330608b5a
9:139391969 NOTCH1 G>A	9	139391969	139391969	G	A	NOTCH1	c.6222C>T	NM_017617.3	NP_060087.3:p.(Tyr2074=)	NC_000009.11:g.139391969G>A	(Likely) benign	1 lab	e331b13c45
6:31918464 CFB A>G	6	31918464	31918464	A	G	CFB	c.1693A>G	NM_001710.5	NP_001701.2:p.(Lys565Glu)	NC_000006.11:g.31918464A>G	(Likely) benign	1 lab	e3329c5e5a
3:37038107 MLH1 C>G	3	37038107	37038107	C	G	MLH1	c.117-3C>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37038107C>G	(Likely) pathogenic	1 lab	e33be90a4a
9:14812956 FREM1 GCAAAAATG>AGAAAATT	9	14812956	14812964	GCAAAAATG	AGAAAATT	FREM1	c.2739_2747delinsAATTTTCT	NM_144966.5	NP_659403.4:p.(Tyr913Ter)	NC_000009.11:g.14812956_14812964delinsAGAAAATT	(Likely) pathogenic	1 lab	e33d9c6ab4
1:224605964 WDR26 AC>A	1	224605964	224605965	AC	A	WDR26	c.1316del	NM_001379403.1	NP_001366332.1:p.(Ser439IlefsTer32)	NC_000001.10:g.224605965del	(Likely) pathogenic	1 lab	e340f3ac1f
3:38938610 SCN11A A>T	3	38938610	38938610	A	T	SCN11A	c.2129T>A	NM_014139.2	NP_054858.2:p.(Ile710Asn)	NC_000003.11:g.38938610A>T	VUS	1 lab	e341301cd7
21:16338443 NRIP1 G>A	21	16338443	16338443	G	A	NRIP1	c.2071C>T	NM_003489.4	NP_003480.2:p.(Pro691Ser)	NC_000021.8:g.16338443G>A	(Likely) benign	1 lab	1670bdd524
3:10183851 VHL G>C	3	10183851	10183851	G	C	VHL	c.320G>C	NM_000551.3	NP_000542.1:p.(Arg107Pro)	NC_000003.11:g.10183851G>C	(Likely) pathogenic	1 lab	e34c32346c
22:51135692 MISSING AG>A	22	51135692	51135696	AG	A	MISSING				NC_000022.10:g.51135696del	(Likely) pathogenic	1 lab	e34dbe6cea
16:23649529 PALB2 G>A	16	23649529	23649529	G	A	PALB2	c.49-79C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649529G>A	(Likely) benign	1 lab	e351354cda
3:30713613 TGFBR2 G>C	3	30713613	30713613	G	C	TGFBR2	c.938G>C	NM_003242.6	NP_003233.4:p.(Arg313Pro)	NC_000003.11:g.30713613G>C	VUS	1 lab	e353419237
11:47355098 MYBPC3 G>A	11	47355098	47355098	G	A	MYBPC3	c.3190+10C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355098G>A	(Likely) benign	1 lab	1671a8e1ef
1:247588455 NLRP3 G>C	1	247588455	247588455	G	C	NLRP3	c.1704G>C	NM_001243133.2	NP_001230062.1:p.(Lys568Asn)	NC_000001.10:g.247588455G>C	(Likely) pathogenic	1 lab	1677aee9ea
3:12645693 RAF1 G>A	3	12645693	12645693	G	A	RAF1				NC_000003.11:g.12645693G>A	(Likely) pathogenic	1 lab	e35a477eaf
3:48604617 COL7A1 G>A	3	48604617	48604617	G	A	COL7A1	c.8053C>T	NM_000094.3	NP_000085.1:p.(Arg2685Ter)	NC_000003.11:g.48604617G>A	(Likely) pathogenic	1 lab	e35b3c161c
1:228476576 OBSCN T>A	1	228476576	228476576	T	A	OBSCN	c.11613T>A	NM_001271223.2	NP_001258152.2:p.(Thr3871=)	NC_000001.10:g.228476576T>A	(Likely) benign	1 lab	e35f2b953f
X:110437534 PAK3 T>A	X	110437534	110437534	T	A	PAK3	c.998T>A	NM_002578.5	NP_002569.1:p.(Leu333Ter)	NC_000023.10:g.110437534T>A	(Likely) pathogenic	1 lab	e3609f3f64
2:179476693 TTN A>G	2	179476693	179476693	A	G	TTN	c.50355-12T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179476693A>G	(Likely) benign	1 lab	e36425a02b
11:108138012 ATM T>A	11	108138012	108138012	T	A	ATM	c.2581T>A	NM_000051.4	NP_000042.3:p.(Tyr861Asn)	NC_000011.9:g.108138012T>A	VUS	1 lab	e3675801c4
7:2949765 CARD11 C>T	7	2949765	2949765	C	T	CARD11	c.3179G>A	NM_001324281.1	NP_001311210.1:p.(Cys1060Tyr)	NC_000007.13:g.2949765C>T	VUS	1 lab	e36881c977
1:228474669 OBSCN C>G	1	228474669	228474669	C	G	OBSCN	c.10760C>G	NM_001271223.2	NP_001258152.2:p.(Thr3587Ser)	NC_000001.10:g.228474669C>G	(Likely) benign	1 lab	e36a23f609
1:228509424 OBSCN T>C	1	228509424	228509424	T	C	OBSCN	c.17753T>C	NM_001271223.2	NP_001258152.2:p.(Leu5918Pro)	NC_000001.10:g.228509424T>C	VUS	1 lab	e36a4fe810
8:61768552 CHD7 C>T	8	61768552	61768552	C	T	CHD7				NC_000008.10:g.61768552C>T	(Likely) pathogenic	1 lab	e36b568c3c
2:227912209 COL4A4 C>G	2	227912209	227912209	C	G	COL4A4	c.3271G>C	NM_000092.5	NP_000083.3:p.(Gly1091Arg)	NC_000002.11:g.227912209C>G	(Likely) pathogenic	1 lab	e36bd7d91d
9:131670518 LRRC8A G>A	9	131670518	131670518	G	A	LRRC8A	c.1075G>A	NM_001127244.2	NP_001120716.1:p.(Glu359Lys)	NC_000009.11:g.131670518G>A	VUS	1 lab	14743cec77
9:139400124 NOTCH1 C>T	9	139400124	139400124	C	T	NOTCH1	c.4224G>A	NM_017617.4	NP_060087.3:p.(Glu1408=)	NC_000009.11:g.139400124C>T	(Likely) benign	1 lab	e371a4bb67
5:142662137 NR3C1 T>C	5	142662137	142662137	T	C	NR3C1	c.2177A>G	NM_000176.2	NP_000167.1:p.(His726Arg)	NC_000005.9:g.142662137T>C	VUS	1 lab	e3720bd6d8
1:201331554 TNNT2 T>G	1	201331554	201331554	T	G	TNNT2	c.571-32A>C	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201331554T>G	(Likely) benign	1 lab	e3722748a0
X:41782197 CASK G>T	X	41782197	41782197	G	T	CASK	c.45C>A	NM_003688.3	NP_003679.2:p.(Cys15Ter)	NC_000023.10:g.41782197G>T	(Likely) pathogenic	1 lab	e374b41e8c
8:72183988 EYA1 C>T	8	72183988	72183988	C	T	EYA1	c.966+5G>A	NM_172058.2	NP_742055.1:p.?	NC_000008.10:g.72183988C>T	(Likely) pathogenic	1 lab	e37561d786
16:30722105 SRCAP C>T	16	30722105	30722105	C	T	SRCAP	c.1165C>T	NM_006662.3	NP_006653.2:p.(Arg389Cys)	NC_000016.9:g.30722105C>T	VUS	1 lab	147e9df790
19:46914927 CCDC8 C>T	19	46914927	46914927	C	T	CCDC8	c.1141G>A	NM_032040.5	NP_114429.2:p.(Asp381Asn)	NC_000019.9:g.46914927C>T	(Likely) benign	1 lab	147eb14a27
11:76867116 MYO7A G>A	11	76867116	76867116	G	A	MYO7A	c.449G>A	NM_000260.4	NP_000251.3:p.(Arg150Gln)	NC_000011.9:g.76867116G>A	VUS	1 lab	e37a2a9d4a
X:85219028 CHM GCTTCTTCGACATCTTCATGCAAATC>G	X	85219028	85219055	GCTTCTTCGACATCTTCATGCAAATC	G	CHM	c.319_343del	NM_000390.3	NP_000381.1:p.(Asp107LeufsTer11)	NC_000023.10:g.85219031_85219055del	(Likely) pathogenic	1 lab	e37a399d63
X:118972454 UPF3B A>G	X	118972454	118972454	A	G	UPF3B	c.883T>C	NM_080632.3	NP_542199.1:p.(Leu295=)	NC_000023.10:g.118972454A>G	(Likely) benign	1 lab	148068d8e3
7:6026941 PMS2 C>T	7	6026941	6026941	C	T	PMS2	c.1455G>A	NM_000535.7	NP_000526.2:p.(Thr485=)	NC_000007.13:g.6026941C>T	(Likely) benign	1 lab	e380b0fbfc
1:16378725 CLCNKB A>T	1	16378725	16378725	A	T	CLCNKB				NC_000001.10:g.16378725A>T	(Likely) benign	1 lab	e385fb7ee0
3:147131269 ZIC1 C>G	3	147131269	147131269	C	G	ZIC1	c.1275C>G	NM_003412.4	NP_003403.2:p.(Ser425=)	NC_000003.11:g.147131269C>G	(Likely) benign	1 lab	1483187247
10:64573333 EGR2 G>C	10	64573333	64573333	G	C	EGR2	c.1065C>G	NM_000399.3	NP_000390.2:p.(Asp355Glu)	NC_000010.10:g.64573333G>C	VUS	1 lab	e3899950b2
2:152465165 NEB C>T	2	152465165	152465165	C	T	NEB	c.12356G>A	NM_001164508.2	NP_001157980.2:p.(Trp4119Ter)	NC_000002.11:g.152465165C>T	VUS	1 lab	e38c0c91f2
13:32890560 BRCA2 C>T	13	32890560	32890560	C	T	BRCA2	c.-38C>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32890560C>T	(Likely) benign	1 lab	e38ca67dfd
13:23939304 SACS C>T	13	23939304	23939304	C	T	SACS	c.457+1G>A	NM_014363.4	NP_055178.3:p.?	NC_000013.10:g.23939304C>T	(Likely) pathogenic	1 lab	e38e719ebf
8:106814145 ZFPM2 A>G	8	106814145	106814145	A	G	ZFPM2	c.1835A>G	NM_012082.4	NP_036214.2:p.(His612Arg)	NC_000008.10:g.106814145A>G	VUS	1 lab	e38e77867d
13:114202649 SLC9D1 T>C	13	114202649	114202649	T	C	SLC9D1	c.1802T>C	NM_017905.6	NP_060375.4:p.(Ile601Thr)	NC_000013.10:g.114202649T>C	VUS	1 lab	e38ec6a8eb
17:79478505 ACTG1 G>A	17	79478505	79478505	G	A	ACTG1				NC_000017.10:g.79478505G>A	VUS	1 lab	e3946c9bcb
2:223086055 PAX3 G>A	2	223086055	223086055	G	A	PAX3	c.844C>T	NM_181459.3	NP_852124.1:p.(Gln282Ter)	NC_000002.11:g.223086055G>A	(Likely) pathogenic	1 lab	e394e68b14
2:44531484 SLC3A1 C>T	2	44531484	44531484	C	T	SLC3A1	c.1332+7C>T	NM_000341.3	NP_000332.2:p.?	NC_000002.11:g.44531484C>T	(Likely) benign	1 lab	e394f9296e
16:68847342 CDH1 C>T	16	68847342	68847342	C	T	CDH1	c.1264C>T	NM_004360.3	NP_004351.1:p.(Gln422Ter)	NC_000016.9:g.68847342C>T	(Likely) pathogenic	1 lab	e395a51156
2:179616663 TTN A>G	2	179616663	179616663	A	G	TTN	c.11311+1188T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616663A>G	(Likely) benign	1 lab	e39621d8b0
11:62285322 AHNAK T>A	11	62285322	62285322	T	A	AHNAK	c.16567A>T	NM_001620.3	NP_001611.1:p.(Ile5523Phe)	NC_000011.9:g.62285322T>A	VUS	1 lab	14863e04e3
11:108155237 ATM A>T	11	108155237	108155237	A	T	ATM	c.3993+37A>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108155237A>T	(Likely) benign	1 lab	e399ebefe3
6:32814975 TAP1 T>C	6	32814975	32814975	T	C	TAP1	c.1910A>G	NM_000593.6	NP_000584.3:p.(Asp637Gly)	NC_000006.11:g.32814975T>C	(Likely) benign	1 lab	14890210be
9:130230110 LRSAM1 G>A	9	130230110	130230110	G	A	LRSAM1	c.619+1G>A	NM_138361.5	NP_612370.3:p.?	NC_000009.11:g.130230110G>A	VUS	1 lab	e39d2f16cc
1:155205016 GBA1 TC>AG	1	155205016	155205017	TC	AG	GBA1	c.1474_1475delinsCT	NM_000157.4	NP_000148.2:p.(Asp492Leu)	NC_000001.10:g.155205016_155205017delinsAG	VUS	1 lab	e39e5e0010
2:47705491 MSH2 G>A	2	47705491	47705491	G	A	MSH2	c.2291G>A	NM_000251.2	NP_000242.1:p.(Trp764Ter)	NC_000002.11:g.47705491G>A	(Likely) pathogenic	1 lab	e3a094e60c
X:100601583 TIMM8A G>C	X	100601583	100601583	G	C	TIMM8A	c.198C>G	NM_004085.3	NP_004076.1:p.(Cys66Trp)	NC_000023.10:g.100601583G>C	(Likely) pathogenic	1 lab	e3a262b744
19:55669004 TNNI3 G>A	19	55669004	55669004	G	A	TNNI3	c.-47C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55669004G>A	(Likely) benign	1 lab	e3a2cc4430
11:108170477 ATM T>C	11	108170477	108170477	T	C	ATM	c.5042T>C	NM_000051.4	NP_000042.3:p.(Ile1681Thr)	NC_000011.9:g.108170477T>C	(Likely) benign	1 lab	e3a5511054
1:43393390 SLC2A1 C>T	1	43393390	43393390	C	T	SLC2A1	c.1164G>A	NM_006516.2	NP_006507.2:p.(Trp388Ter)	NC_000001.10:g.43393390C>T	(Likely) pathogenic	1 lab	e3a6215178
1:152283426 FLG A>T	1	152283426	152283426	A	T	FLG	c.3936T>A	NM_002016.2	NP_002007.1:p.(His1312Gln)	NC_000001.10:g.152283426A>T	(Likely) benign	1 lab	e3a708d839
9:139418129 NOTCH1 C>G	9	139418129	139418129	C	G	NOTCH1	c.403+40G>C	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139418129C>G	(Likely) benign	1 lab	e3a87b013d
15:73617534 HCN4 C>G	15	73617534	73617534	C	G	HCN4	c.1740G>C	NM_005477.3	NP_005468.1:p.(Glu580Asp)	NC_000015.9:g.73617534C>G	VUS	1 lab	e3a9fef751
12:80726789 OTOGL G>A	12	80726789	80726789	G	A	OTOGL	c.4326G>A	NM_173591.3	NP_775862.3:p.(Trp1442Ter)	NC_000012.11:g.80726789G>A	(Likely) pathogenic	1 lab	e3b32ec5c8
13:32914961 BRCA2 C>T	13	32914961	32914961	C	T	BRCA2	c.6469C>T	NM_000059.4	NP_000050.3:p.(Gln2157Ter)	NC_000013.10:g.32914961C>T	(Likely) pathogenic	1 lab	1489c0b15c
2:47693947 MSH2 G>C	2	47693947	47693947	G	C	MSH2	c.1661G>C	NM_000251.2	NP_000242.1:p.(Ser554Thr)	NC_000002.11:g.47693947G>C	(Likely) pathogenic	1 lab	e3b564b45a
11:47371499 MYBPC3 G>A	11	47371499	47371499	G	A	MYBPC3	c.506-26C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371499G>A	(Likely) benign	1 lab	e3b6f6e3b9
X:53440240 SMC1A T>C	X	53440240	53440240	T	C	SMC1A	c.557A>G	NM_006306.2	NP_006297.2:p.(Tyr186Cys)	NC_000023.10:g.53440240T>C	(Likely) pathogenic	1 lab	e3b79dc361
13:32899212 BRCA2 G>A	13	32899212	32899212	G	A	BRCA2	c.317-1G>A	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32899212G>A	VUS	1 lab	e3b7c5fe69
8:12950310 DLC1 T>A	8	12950310	12950310	T	A	DLC1	c.3551A>T	NM_182643.3	NP_872584.2:p.(Gln1184Leu)	NC_000008.10:g.12950310T>A	(Likely) benign	1 lab	1681290353
X:46433911 CHST7 C>G	X	46433911	46433911	C	G	CHST7	c.545C>G	NM_019886.3	NP_063939.2:p.(Pro182Arg)	NC_000023.10:g.46433911C>G	(Likely) benign	1 lab	e3bc309d4f
7:91670140 AKAP9 AATGGAGAGACAGCGAG>A	7	91670140	91670157	AATGGAGAGACAGCGAG	A	AKAP9	c.4847_4862del	NM_005751.4	NP_005742.4:p.(Met1616LysfsTer17)	NC_000007.13:g.91670142_91670157del	VUS	1 lab	e3c3c94b48
14:37132453 PAX9 C>T	14	37132453	37132453	C	T	PAX9				NC_000014.8:g.37132453C>T	VUS	1 lab	e3c53fb58e
9:138660814 KCNT1 T>C	9	138660814	138660814	T	C	KCNT1	c.1510+31T>C	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138660814T>C	(Likely) benign	1 lab	168508a6d8
7:47860695 PKD1L1 G>T	7	47860695	47860695	G	T	PKD1L1	c.6944C>A	NM_138295.5	NP_612152.1:p.(Ala2315Asp)	NC_000007.13:g.47860695G>T	VUS	1 lab	168552d048
22:29090145 CHEK2 A>G	22	29090145	29090145	A	G	CHEK2	c.1376-40T>C	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29090145A>G	(Likely) benign	1 lab	e3ed872f30
7:87056065 ABCB4 C>G	7	87056065	87056065	C	G	ABCB4	c.2064+1G>C	NM_018849.2	NP_061337.1:p.?	NC_000007.13:g.87056065C>G	(Likely) pathogenic	1 lab	e3cb1bbdbe
11:118347698 KMT2A G>A	11	118347698	118347698	G	A	KMT2A	c.3334+1G>A	NM_001197104.1	NP_001184033.1:p.?	NC_000011.9:g.118347698G>A	(Likely) pathogenic	1 lab	e3d76815ec
2:220284872 DES C>T	2	220284872	220284872	C	T	DES	c.634C>T	NM_001927.3	NP_001918.3:p.(Arg212Ter)	NC_000002.11:g.220284872C>T	(Likely) pathogenic	1 lab	e3d803db43
X:153008685 ABCD1 G>A	X	153008685	153008685	G	A	ABCD1	c.1876G>A	NM_000033.3	NP_000024.2:p.(Ala626Thr)	NC_000023.10:g.153008685G>A	(Likely) pathogenic	1 lab	e3e14f3b36
11:64574680 MEN1 C>T	11	64574680	64574680	C	T	MEN1	c.810G>A	NM_000244.3	NP_000235.2:p.(Trp270Ter)	NC_000011.9:g.64574680C>T	(Likely) pathogenic	1 lab	1688b517c6
3:30713741 TGFBR2 C>T	3	30713741	30713741	C	T	TGFBR2	c.1141C>T	NM_001024847.2	NP_001020018.1:p.(Arg381Trp)	NC_000003.11:g.30713741C>T	VUS	1 lab	148c9ea316
11:67817635 TCIRG1 C>A	11	67817635	67817635	C	A	TCIRG1	c.2150C>A	NM_006019.3	NP_006010.2:p.(Ala717Asp)	NC_000011.9:g.67817635C>A	VUS	1 lab	e3e4d66ccf
2:215593455 BARD1 G>A	2	215593455	215593455	G	A	BARD1	c.2279C>T	NM_000465.4	NP_000456.2:p.(Ser760Leu)	NC_000002.11:g.215593455G>A	VUS	1 lab	e3e53321f7
17:42930689 EFTUD2 C>T	17	42930689	42930689	C	T	EFTUD2	c.2536G>A	NM_004247.3	NP_004238.3:p.(Val846Ile)	NC_000017.10:g.42930689C>T	VUS	1 lab	e3ebce9185
3:179481971 USP13 CTG>C	3	179481971	179482003	CTG	C	USP13	c.2259+46_2259+47del	NM_003940.3	NP_003931.2:p.?	NC_000003.11:g.179482002_179482003del	(Likely) benign	1 lab	168af757de
7:35293089 TBX20 G>T	7	35293089	35293089	G	T	TBX20	c.127+16C>A	NM_001077653.2	NP_001071121.1:p.?	NC_000007.13:g.35293089G>T	(Likely) benign	1 lab	148cbdb539
2:103149100 SLC9A4 G>A	2	103149100	103149100	G	A	SLC9A4	c.2350G>A	NM_001011552.3	NP_001011552.2:p.(Gly784Ser)	NC_000002.11:g.103149100G>A	(Likely) benign	1 lab	e3f0cc8049
1:35250433 GJB3 T>C	1	35250433	35250433	T	C	GJB3	c.70T>C	NM_024009.3	NP_076872.1:p.(Trp24Arg)	NC_000001.10:g.35250433T>C	VUS	1 lab	e3f16ac3db
12:6078424 VWF A>T	12	6078424	6078424	A	T	VWF	c.7682T>A	NM_000552.3	NP_000543.2:p.(Phe2561Tyr)	NC_000012.11:g.6078424A>T	(Likely) benign	1 lab	e3f5ffe1a8
13:113771896 F7 T>C	13	113771896	113771896	T	C	F7	c.791T>C	NM_000131.4	NP_000122.1:p.(Leu264Pro)	NC_000013.10:g.113771896T>C	(Likely) pathogenic	1 lab	e3f70ac38f
6:157522316 ARID1B C>T	6	157522316	157522316	C	T	ARID1B	c.4957C>T	NM_001374828.1	NP_001361757.1:p.(Gln1653Ter)	NC_000006.11:g.157522316C>T	(Likely) pathogenic	1 lab	e3f7a68a2d
13:32953429 BRCA2 A>G	13	32953429	32953429	A	G	BRCA2	c.8755-25A>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953429A>G	(Likely) benign	1 lab	e3f819724b
22:42463849 NAGA T>A	22	42463849	42463849	T	A	NAGA	c.244A>T	NM_000262.3	NP_000253.1:p.(Ile82Phe)	NC_000022.10:g.42463849T>A	VUS	1 lab	22f347b8ae
5:137708519 KDM3B T>C	5	137708519	137708519	T	C	KDM3B	c.349T>C	NM_016604.3	NP_057688.2:p.(Trp117Arg)	NC_000005.9:g.137708519T>C	VUS	1 lab	e3fa5ecd82
X:64140135 ZC4H2 T>C	X	64140135	64140135	T	C	ZC4H2	c.226-2A>G	NM_018684.3	NP_061154.1:p.?	NC_000023.10:g.64140135T>C	(Likely) pathogenic	1 lab	e3fba58f94
1:196871592 CFHR4 T>C	1	196871592	196871592	T	C	CFHR4	c.103T>C	NM_001201550.2	NP_001188479.1:p.(Tyr35His)	NC_000001.10:g.196871592T>C	(Likely) benign	1 lab	e3fcb5c51c
20:23028934 THBD C>T	20	23028934	23028934	C	T	THBD	c.1208G>A	NM_000361.2	NP_000352.1:p.(Arg403Lys)	NC_000020.10:g.23028934C>T	VUS	1 lab	e3fdbd1ad4
17:3493533 TRPV1 A>G	17	3493533	3493533	A	G	TRPV1	c.745+13T>C	NM_018727.5	NP_061197.4:p.?	NC_000017.10:g.3493533A>G	(Likely) benign	1 lab	e40373f3cd
12:14018886 GRIN2B C>T	12	14018886	14018886	C	T	GRIN2B				NC_000012.11:g.14018886C>T	VUS	1 lab	e40434f057
6:7559459 DSP G>T	6	7559459	7559459	G	T	DSP	c.423G>T	NM_004415.2	NP_004406.2:p.(Arg141Ser)	NC_000006.11:g.7559459G>T	VUS	1 lab	1692a2acc8
2:179441649 TTN C>T	2	179441649	179441649	C	T	TTN	c.61708+1G>A	NM_133378.4	NP_596869.4:p.?	NC_000002.11:g.179441649C>T	(Likely) pathogenic	1 lab	e40612c34e
22:36681312 MYH9 G>A	22	36681312	36681312	G	A	MYH9	c.5338C>T	NM_002473.6	NP_002464.1:p.(Arg1780Trp)	NC_000022.10:g.36681312G>A	VUS	1 lab	e4066048be
17:60023885 MED13 G>A	17	60023885	60023885	G	A	MED13	c.6469C>T	NM_005121.3	NP_005112.2:p.(Pro2157Ser)	NC_000017.10:g.60023885G>A	(Likely) benign	1 lab	e40684a476
2:179434076 TTN T>G	2	179434076	179434076	T	G	TTN	c.76783A>C	NM_001267550.2	NP_001254479.2:p.(Thr25595Pro)	NC_000002.11:g.179434076T>G	VUS	1 lab	e4095921c3
17:29588757 NF1 T>G	17	29588757	29588757	T	G	NF1	c.4543T>G	NM_000267.3	NP_000258.1:p.(Phe1515Val)	NC_000017.10:g.29588757T>G	(Likely) pathogenic	1 lab	e40cdf79fe
2:238277783 COL6A3 G>A	2	238277783	238277783	G	A	COL6A3	c.4323C>T	NM_004369.3	NP_004360.2:p.(Ile1441=)	NC_000002.11:g.238277783G>A	(Likely) benign	1 lab	e40e15254f
1:156124407 SEMA4A T>C	1	156124407	156124407	T	C	SEMA4A	c.38T>C	NM_022367.3	NP_071762.2:p.(Leu13Pro)	NC_000001.10:g.156124407T>C	VUS	1 lab	e413eb7c06
16:23649405 PALB2 G>C	16	23649405	23649405	G	C	PALB2	c.94C>G	NM_024675.4	NP_078951.2:p.(Leu32Val)	NC_000016.9:g.23649405G>C	(Likely) benign	1 lab	e4186da6d3
19:11123789 SMARCA4 G>A	19	11123789	11123789	G	A	SMARCA4	c.2438+1G>A	NM_001128849.1	NP_001122321.1:p.?	NC_000019.9:g.11123789G>A	(Likely) pathogenic	1 lab	e418cd6981
15:43909879 STRC AG>A	15	43909879	43909885	AG	A	STRC	c.739del	NM_153700.2	NP_714544.1:p.(Leu247SerfsTer76)	NC_000015.9:g.43909885del	(Likely) pathogenic	1 lab	e41a0ceb4d
5:112116562 APC C>T	5	112116562	112116562	C	T	APC	c.607C>T	NM_000038.6	NP_000029.2:p.(Gln203Ter)	NC_000005.9:g.112116562C>T	(Likely) pathogenic	1 lab	e41a979069
14:23883374 MYH7 C>T	14	23883374	23883374	C	T	MYH7	c.5560-63G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23883374C>T	(Likely) benign	1 lab	e41b504dcb
2:24253999 WDCP T>C	2	24253999	24253999	T	C	WDCP	c.1970A>G	NM_025203.2	NP_079479.1:p.(Glu657Gly)	NC_000002.11:g.24253999T>C	VUS	1 lab	e41d97ebe1
5:161580306 GABRG2 C>T	5	161580306	161580306	C	T	GABRG2				NC_000005.9:g.161580306C>T	VUS	1 lab	f4222974aa
6:152631120 SYNE1 C>T	6	152631120	152631120	C	T	SYNE1				NC_000006.11:g.152631120C>T	(Likely) benign	1 lab	e47b60396c
20:45874797 ZMYND8 G>A	20	45874797	45874797	G	A	ZMYND8	c.2239C>T	NM_001281775.3	NP_001268704.1:p.(Arg747Ter)	NC_000020.10:g.45874797G>A	VUS	1 lab	e41e62f015
7:82474616 PCLO C>T	7	82474616	82474616	C	T	PCLO	c.14017G>A	NM_033026.5	NP_149015.2:p.(Val4673Met)	NC_000007.13:g.82474616C>T	VUS	1 lab	e41ea4be98
14:23889449 MYH7 CA>C	14	23889449	23889450	CA	C	MYH7	c.3337-7del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23889450del	(Likely) benign	1 lab	e41f478b7c
3:53736798 CACNA1D G>C	3	53736798	53736798	G	C	CACNA1D	c.1351G>C	NM_000720.3	NP_000711.1:p.(Glu451Gln)	NC_000003.11:g.53736798G>C	(Likely) benign	1 lab	e41fadffdf
19:41019128 SPTBN4 T>A	19	41019128	41019128	T	A	SPTBN4	c.2432T>A	NM_020971.3	NP_066022.2:p.(Leu811Gln)	NC_000019.9:g.41019128T>A	VUS	1 lab	1495f681f8
7:140534545 BRAF G>A	7	140534545	140534545	G	A	BRAF	c.368C>T	NM_001354609.2	NP_001341538.1:p.(Ser123Phe)	NC_000007.13:g.140534545G>A	VUS	1 lab	1496434a47
1:40723976 ZMPSTE24 G>A	1	40723976	40723976	G	A	ZMPSTE24	c.33G>A	NM_005857.5	NP_005848.2:p.(Trp11Ter)	NC_000001.10:g.40723976G>A	(Likely) pathogenic	1 lab	e420d59d11
1:234744648 IRF2BP2 GGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACC>G	1	234744648	234744701	GGCGTGGCCGAGCCGTTCATGAGCGGCACCAGGGTGGGCGGCACC	G	IRF2BP2	c.549_592del	NM_182972.3	NP_892017.2:p.(Val184AlafsTer55)	NC_000001.10:g.234744658_234744701del	VUS	1 lab	14993ac854
2:121709018 GLI2 G>A	2	121709018	121709018	G	A	GLI2	c.454G>A	NM_005270.4	NP_005261.2:p.(Asp152Asn)	NC_000002.11:g.121709018G>A	VUS	1 lab	e4228b55c5
11:72005086 CLPB C>T	11	72005086	72005086	C	T	CLPB	c.1855G>A	NM_030813.6	NP_110440.1:p.(Ala619Thr)	NC_000011.9:g.72005086C>T	VUS	1 lab	149e5b1e1f
2:47630543 MSH2 T>A	2	47630543	47630543	T	A	MSH2	c.211+2T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47630543T>A	(Likely) pathogenic	1 lab	e423ca6e14
3:37038154 MLH1 GA>G	3	37038154	37038155	GA	G	MLH1	c.162del	NM_000249.3	NP_000240.1:p.(Gly55AlafsTer2)	NC_000003.11:g.37038155del	(Likely) pathogenic	1 lab	e4260a7283
4:110914628 EGF C>G	4	110914628	110914628	C	G	EGF	c.2857+103C>G	NM_001963.6	NP_001954.2:p.?	NC_000004.11:g.110914628C>G	(Likely) benign	1 lab	16939c0c7d
X:76939951 ATRX T>C	X	76939951	76939951	T	C	ATRX	c.797A>G	NM_000489.4	NP_000480.3:p.(Tyr266Cys)	NC_000023.10:g.76939951T>C	(Likely) pathogenic	1 lab	e426cdf41c
X:135289213 FHL1 C>T	X	135289213	135289213	C	T	FHL1	c.195C>T	NM_001159702.2	NP_001153174.1:p.(Cys65=)	NC_000023.10:g.135289213C>T	(Likely) benign	1 lab	e4297053d0
1:31441332 PUM1 C>G	1	31441332	31441332	C	G	PUM1	c.1514G>C	NM_001020658.2	NP_001018494.1:p.(Arg505Pro)	NC_000001.10:g.31441332C>G	VUS	1 lab	14a004ec2f
X:107850072 COL4A5 C>CTCCG	X	107850072	107850076	C	CTCCG	COL4A5	c.2346_2349dup	NM_033380.2	NP_203699.1:p.(Gly784SerfsTer18)	NC_000023.10:g.107850073_107850076dup	(Likely) pathogenic	1 lab	e4303e9ffb
X:48932941 WDR45 C>T	X	48932941	48932941	C	T	WDR45	c.831-1G>A	NM_007075.3	NP_009006.2:p.?	NC_000023.10:g.48932941C>T	(Likely) pathogenic	1 lab	e433d2c362
2:179397177 TTN G>A	2	179397177	179397177	G	A	TTN	c.104165C>T	NM_001267550.2	NP_001254479.2:p.(Thr34722Ile)	NC_000002.11:g.179397177G>A	(Likely) benign	1 lab	e435228ade
17:41243673 BRCA1 G>C	17	41243673	41243673	G	C	BRCA1	c.3875C>G	NM_007294.3	NP_009225.1:p.(Ser1292Cys)	NC_000017.10:g.41243673G>C	VUS	1 lab	e4361c3361
16:70289753 AARS1 C>T	16	70289753	70289753	C	T	AARS1	c.2178-14G>A	NM_001605.2	NP_001596.2:p.?	NC_000016.9:g.70289753C>T	(Likely) benign	1 lab	1696d0e782
12:33021959 PKP2 T>C	12	33021959	33021959	T	C	PKP2	c.1072A>G	NM_001005242.3	NP_001005242.2:p.(Ser358Gly)	NC_000012.11:g.33021959T>C	(Likely) benign	1 lab	e436ddbc85
20:3063447 AVP C>G	20	3063447	3063447	C	G	AVP	c.324G>C	NM_000490.4	NP_000481.2:p.(Glu108Asp)	NC_000020.10:g.3063447C>G	VUS	1 lab	e43723b8e7
7:128491325 FLNC G>T	7	128491325	128491325	G	T	FLNC	c.5579G>T	NM_001458.4	NP_001449.3:p.(Arg1860Leu)	NC_000007.13:g.128491325G>T	(Likely) benign	1 lab	e4378761b7
X:53561067 HUWE1 A>G	X	53561067	53561067	A	G	HUWE1	c.12923T>C	NM_031407.7	NP_113584.3:p.(Leu4308Pro)	NC_000023.10:g.53561067A>G	(Likely) pathogenic	1 lab	e43977df1c
17:41197274 BRCA1 C>A	17	41197274	41197274	C	A	BRCA1	c.*421G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41197274C>A	(Likely) benign	1 lab	e4400efb93
18:2740731 SMCHD1 A>C	18	2740731	2740731	A	C	SMCHD1	c.3545A>C	NM_015295.3	NP_056110.2:p.(Gln1182Pro)	NC_000018.9:g.2740731A>C	VUS	1 lab	e441663262
11:119149218 CBL A>G	11	119149218	119149218	A	G	CBL	c.1228-2A>G	NM_005188.3	NP_005179.2:p.?	NC_000011.9:g.119149218A>G	(Likely) pathogenic	1 lab	e4425a3a94
2:47672723 MSH2 C>T	2	47672723	47672723	C	T	MSH2	c.1313C>T	NM_000251.2	NP_000242.1:p.(Thr438Ile)	NC_000002.11:g.47672723C>T	VUS	1 lab	e44269c9f5
18:28667786 DSC2 G>GA	18	28667786	28667787	G	GA	DSC2	c.631-11dup	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28667787dup	(Likely) benign	1 lab	e44474483f
17:59878702 BRIP1 G>A	17	59878702	59878702	G	A	BRIP1	c.1052C>T	NM_032043.2	NP_114432.2:p.(Pro351Leu)	NC_000017.10:g.59878702G>A	VUS	1 lab	e444774c5c
15:43512858 EPB42 A>C	15	43512858	43512858	A	C	EPB42	c.100+66T>G	NM_000119.3	NP_000110.2:p.?	NC_000015.9:g.43512858A>C	(Likely) benign	1 lab	c598dd1e9e
1:61869779 NFIA G>A	1	61869779	61869779	G	A	NFIA	c.1214G>A	NM_001145512.1	NP_001138984.1:p.(Ser405Asn)	NC_000001.10:g.61869779G>A	(Likely) benign	1 lab	e451ff5466
13:39433789 FREM2 A>G	13	39433789	39433789	A	G	FREM2	c.7519+62A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39433789A>G	(Likely) benign	1 lab	c5b7a185d4
1:155210876 GBA CCT>C	1	155210876	155210882	CCT	C	GBA				NC_000001.10:g.155210881_155210882del	VUS	1 lab	e4549f3a6f
6:170592161 DLL1 G>A	6	170592161	170592161	G	A	DLL1	c.2081C>T	NM_005618.4	NP_005609.3:p.(Ser694Leu)	NC_000006.11:g.170592161G>A	(Likely) benign	1 lab	14a44113d2
3:127339607 MCM2 G>A	3	127339607	127339607	G	A	MCM2	c.2332G>A	NM_004526.3	NP_004517.2:p.(Ala778Thr)	NC_000003.11:g.127339607G>A	VUS	1 lab	e4576234c4
13:113530221 ATP11A G>A	13	113530221	113530221	G	A	ATP11A	c.3293G>A	NM_015205.3	NP_056020.2:p.(Arg1098Gln)	NC_000013.10:g.113530221G>A	VUS	1 lab	e458fbe25b
8:126094614 WASHC5 T>C	8	126094614	126094614	T	C	WASHC5	c.417+11A>G	NM_014846.3	NP_055661.3:p.?	NC_000008.10:g.126094614T>C	(Likely) benign	1 lab	e45bf4e5ac
17:27818802 TAOK1 G>A	17	27818802	27818802	G	A	TAOK1	c.750G>A	NM_020791.4	NP_065842.1:p.(Trp250Ter)	NC_000017.10:g.27818802G>A	(Likely) pathogenic	1 lab	e45c81fc75
16:7759112 RBFOX1 CA>C	16	7759112	7759113	CA	C	RBFOX1	c.1114del	NM_145891.2	NP_665898.1:p.(Thr372ProfsTer7)	NC_000016.9:g.7759113del	VUS	1 lab	e45d929dac
12:14018761 GRIN2B C>T	12	14018761	14018761	C	T	GRIN2B				NC_000012.11:g.14018761C>T	VUS	1 lab	e4607c6aed
7:103183203 RELN G>A	7	103183203	103183203	G	A	RELN	c.6646C>T	NM_005045.4	NP_005036.2:p.(Arg2216Ter)	NC_000007.13:g.103183203G>A	(Likely) pathogenic	1 lab	e460d91540
22:30051642 NF2 C>G	22	30051642	30051642	C	G	NF2	c.576C>G	NM_000268.4	NP_000259.1:p.(Tyr192Ter)	NC_000022.10:g.30051642C>G	(Likely) pathogenic	1 lab	14ab0c35c4
4:155487824 FGB G>A	4	155487824	155487824	G	A	FGB	c.490G>A	NM_005141.4	NP_005132.2:p.(Asp164Asn)	NC_000004.11:g.155487824G>A	(Likely) pathogenic	1 lab	e464382938
11:686982 DEAF1 C>T	11	686982	686982	C	T	DEAF1	c.680G>A	NM_021008.4	NP_066288.2:p.(Cys227Tyr)	NC_000011.9:g.686982C>T	(Likely) pathogenic	1 lab	e465180071
3:176765104 TBL1XR1 CTTAGGATGAAATTTCCTT>C	3	176765104	176765123	CTTAGGATGAAATTTCCTT	C	TBL1XR1	c.830_847del	NM_024665.7	NP_078941.2:p.(Lys277_Leu282del)	NC_000003.11:g.176765106_176765123del	VUS	1 lab	e465bfd356
1:196946853 CFHR5 G>T	1	196946853	196946853	G	T	CFHR5	c.58+1G>T	NM_030787.4	NP_110414.1:p.?	NC_000001.10:g.196946853G>T	(Likely) pathogenic	1 lab	e468d5d3f3
1:94510220 ABCA4 G>A	1	94510220	94510220	G	A	ABCA4	c.2999C>T	NM_000350.3	NP_000341.2:p.(Ala1000Val)	NC_000001.10:g.94510220G>A	VUS	1 lab	e46b4a56d2
17:78078650 GAA C>T	17	78078650	78078650	C	T	GAA	c.265C>T	NM_000152.4	NP_000143.2:p.(Arg89Cys)	NC_000017.10:g.78078650C>T	(Likely) benign	1 lab	e473ead278
4:42466771 ATP8A1 T>C	4	42466771	42466771	T	C	ATP8A1	c.2555A>G	NM_006095.2	NP_006086.1:p.(Tyr852Cys)	NC_000004.11:g.42466771T>C	VUS	1 lab	e4760584ae
17:41201181 BRCA1 C>A	17	41201181	41201181	C	A	BRCA1	c.5363G>T	NM_007294.3	NP_009225.1:p.(Gly1788Val)	NC_000017.10:g.41201181C>A	(Likely) pathogenic	1 lab	e477733da5
18:19751306 GATA6 G>T	18	19751306	19751306	G	T	GATA6	c.201G>T	NM_005257.4	NP_005248.2:p.(Thr67=)	NC_000018.9:g.19751306G>T	(Likely) benign	1 lab	e477f4d986
1:196928188 CFHR2 A>G	1	196928188	196928188	A	G	CFHR2	c.791A>G	NM_005666.3	NP_005657.1:p.(Tyr264Cys)	NC_000001.10:g.196928188A>G	(Likely) benign	1 lab	e4792b0077
15:73622062 HCN4 T>C	15	73622062	73622062	T	C	HCN4	c.1442A>G	NM_005477.3	NP_005468.1:p.(Tyr481Cys)	NC_000015.9:g.73622062T>C	(Likely) pathogenic	1 lab	e47b21eea8
6:30893961 VARS2 C>T	6	30893961	30893961	C	T	VARS2	c.3256C>T	NM_001167734.1	NP_001161206.1:p.(Pro1086Ser)	NC_000006.11:g.30893961C>T	(Likely) pathogenic	1 lab	e47b548168
16:23641695 PALB2 T>C	16	23641695	23641695	T	C	PALB2	c.1780A>G	NM_024675.3	NP_078951.2:p.(Arg594Gly)	NC_000016.9:g.23641695T>C	(Likely) benign	1 lab	e47c19d04e
13:32913183 BRCA2 C>G	13	32913183	32913183	C	G	BRCA2	c.4691C>G	NM_000059.4	NP_000050.3:p.(Ala1564Gly)	NC_000013.10:g.32913183C>G	VUS	1 lab	e47cc7338a
5:89949769 ADGRV1 G>A	5	89949769	89949769	G	A	ADGRV1	c.4378G>A	NM_032119.3	NP_115495.3:p.(Gly1460Ser)	NC_000005.9:g.89949769G>A	VUS	1 lab	e47d791e0c
5:112173388 APC G>A	5	112173388	112173388	G	A	APC	c.2097G>A	NM_000038.6	NP_000029.2:p.(Trp699Ter)	NC_000005.9:g.112173388G>A	(Likely) pathogenic	1 lab	e47fd11413
2:166003543 SCN3A T>C	2	166003543	166003543	T	C	SCN3A	c.1381-4A>G	NM_006922.4	NP_008853.3:p.?	NC_000002.11:g.166003543T>C	(Likely) benign	1 lab	e48930829a
3:9985629 CRELD1 A>G	3	9985629	9985629	A	G	CRELD1	c.1092A>G	NM_001031717.3	NP_001026887.1:p.(Arg364=)	NC_000003.11:g.9985629A>G	(Likely) benign	1 lab	e489454f66
17:10555838 MYH3 G>C	17	10555838	10555838	G	C	MYH3	c.247C>G	NM_002470.4	NP_002461.2:p.(Pro83Ala)	NC_000017.10:g.10555838G>C	VUS	1 lab	22f39cdcc6
14:102493781 DYNC1H1 C>T	14	102493781	102493781	C	T	DYNC1H1	c.8948C>T	NM_001376.5	NP_001367.2:p.(Ser2983Phe)	NC_000014.8:g.102493781C>T	VUS	1 lab	e48b4a6658
1:155252462 HCN3 C>T	1	155252462	155252462	C	T	HCN3	c.539C>T	NM_020897.2	NP_065948.1:p.(Ser180Phe)	NC_000001.10:g.155252462C>T	VUS	1 lab	e48db642dc
3:189681875 P3H2 G>A	3	189681875	189681875	G	A	P3H2	c.1906C>T	NM_018192.3	NP_060662.2:p.(Pro636Ser)	NC_000003.11:g.189681875G>A	VUS	1 lab	e48dd07503
16:16177265 ABCC1 G>A	16	16177265	16177265	G	A	ABCC1	c.2158G>A	NM_004996.4	NP_004987.2:p.(Asp720Asn)	NC_000016.9:g.16177265G>A	VUS	1 lab	e49560b182
12:8988119 A2ML1 G>C	12	8988119	8988119	G	C	A2ML1	c.500G>C	NM_144670.4	NP_653271.2:p.(Arg167Thr)	NC_000012.11:g.8988119G>C	(Likely) benign	1 lab	e49590728c
18:29046607 DSG3 T>G	18	29046607	29046607	T	G	DSG3	c.1526T>G	NM_001944.3	NP_001935.2:p.(Val509Gly)	NC_000018.9:g.29046607T>G	(Likely) benign	1 lab	14b653b599
21:46930021 SLC19A1 G>A	21	46930021	46930021	G	A	SLC19A1				NC_000021.8:g.46930021G>A	VUS	1 lab	e4992d41d9
6:157505364 ARID1B G>T	6	157505364	157505364	G	T	ARID1B	c.3346-1G>T	NM_020732.3	NP_065783.3:p.?	NC_000006.11:g.157505364G>T	(Likely) pathogenic	1 lab	e49a0e1692
5:112103030 APC G>C	5	112103030	112103030	G	C	APC	c.365G>C	NM_000038.6	NP_000029.2:p.(Gly122Ala)	NC_000005.9:g.112103030G>C	VUS	1 lab	e49b829940
17:60140581 MED13 C>CT	17	60140581	60140583	C	CT	MED13	c.147dup	NM_005121.3	NP_005112.2:p.(Glu50ArgfsTer9)	NC_000017.10:g.60140583dup	VUS	1 lab	e49cb36525
1:227059037 PSEN2 C>T	1	227059037	227059037	C	T	PSEN2	c.-275C>T	NM_000447.2	NP_000438.2:p.?	NC_000001.10:g.227059037C>T	(Likely) benign	1 lab	e49d1b85a7
1:236882188 ACTN2 C>T	1	236882188	236882188	C	T	ACTN2	c.242-6C>T	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236882188C>T	(Likely) benign	1 lab	e49e516608
X:76939021 ATRX G>T	X	76939021	76939021	G	T	ATRX	c.1727C>A	NM_000489.3	NP_000480.2:p.(Ser576Ter)	NC_000023.10:g.76939021G>T	(Likely) pathogenic	1 lab	e49ffa2ac6
13:23824831 SGCG G>A	13	23824831	23824831	G	A	SGCG	c.360G>A	NM_000231.2	NP_000222.1:p.(Gly120=)	NC_000013.10:g.23824831G>A	(Likely) benign	1 lab	e4a2c4f623
3:38888964 SCN11A T>C	3	38888964	38888964	T	C	SCN11A	c.4597A>G	NM_014139.2	NP_054858.2:p.(Asn1533Asp)	NC_000003.11:g.38888964T>C	VUS	1 lab	e4a9ae9fc7
1:68910263 RPE65 G>T	1	68910263	68910263	G	T	RPE65	c.446C>A	NM_000329.2	NP_000320.1:p.(Thr149Asn)	NC_000001.10:g.68910263G>T	VUS	1 lab	e4adad36a5
3:38770188 SCN10A G>A	3	38770188	38770188	G	A	SCN10A	c.2485C>T	NM_006514.4	NP_006505.4:p.(Arg829Cys)	NC_000003.11:g.38770188G>A	VUS	1 lab	e4ae3a6ebd
1:196395036 KCNT2 C>T	1	196395036	196395036	C	T	KCNT2	c.1067G>A	NM_198503.5	NP_940905.2:p.(Arg356Gln)	NC_000001.10:g.196395036C>T	(Likely) pathogenic	1 lab	e4b1a6d63f
5:112162945 APC G>A	5	112162945	112162945	G	A	APC	c.1548+1G>A	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112162945G>A	(Likely) pathogenic	1 lab	e4b5e72c9b
7:37934146 NME8 T>C	7	37934146	37934146	T	C	NME8	c.1478T>C	NM_016616.5	NP_057700.3:p.(Ile493Thr)	NC_000007.13:g.37934146T>C	(Likely) benign	1 lab	14b66c4f99
19:42482335 ATP1A3 C>T	19	42482335	42482335	C	T	ATP1A3	c.1813G>A	NM_001256214.1	NP_001243143.1:p.(Ala605Thr)	NC_000019.9:g.42482335C>T	VUS	1 lab	e4ebd9b48b
3:48610781 COL7A1 C>T	3	48610781	48610781	C	T	COL7A1	c.6619G>A	NM_000094.3	NP_000085.1:p.(Gly2207Arg)	NC_000003.11:g.48610781C>T	(Likely) pathogenic	1 lab	e4bcae7236
10:94366476 KIF11 A>C	10	94366476	94366476	A	C	KIF11	c.308+3A>C	NM_004523.3	NP_004514.2:p.?	NC_000010.10:g.94366476A>C	VUS	1 lab	e97b35b58a
14:64520274 SYNE2 CAAAG>C	14	64520274	64520279	CAAAG	C	SYNE2	c.9645_9648del	NM_182914.3	NP_878918.2:p.(Arg3216LysfsTer35)	NC_000014.8:g.64520276_64520279del	VUS	1 lab	14b81eb111
2:167137044 SCN9A C>G	2	167137044	167137044	C	G	SCN9A	c.2166G>C	NM_001365536.1	NP_001352465.1:p.(Leu722Phe)	NC_000002.11:g.167137044C>G	VUS	1 lab	e4bff7d36b
3:193311167 OPA1 A>T	3	193311167	193311167	A	T	OPA1	c.1A>T	NM_130837.2	NP_570850.2:p.(Met1?)	NC_000003.11:g.193311167A>T	(Likely) pathogenic	1 lab	e4c1b1138e
9:140622894 EHMT1 C>T	9	140622894	140622894	C	T	EHMT1				NC_000009.11:g.140622894C>T	(Likely) pathogenic	1 lab	e4c48d63a3
1:218607701 TGFB2 T>C	1	218607701	218607701	T	C	TGFB2	c.749T>C	NM_001135599.3	NP_001129071.1:p.(Ile250Thr)	NC_000001.10:g.218607701T>C	VUS	1 lab	347e205845
3:123453087 MYLK T>G	3	123453087	123453087	T	G	MYLK	c.774-18A>C	NM_053025.3	NP_444253.3:p.?	NC_000003.11:g.123453087T>G	(Likely) benign	1 lab	e4c64c2b69
3:191093255 CCDC50 C>G	3	191093255	191093255	C	G	CCDC50	c.853C>G	NM_178335.2	NP_848018.1:p.(Leu285Val)	NC_000003.11:g.191093255C>G	(Likely) benign	1 lab	e4c8aa9223
12:2797797 CACNA1C T>C	12	2797797	2797797	T	C	CACNA1C	c.6218T>C	NM_199460.3	NP_955630.3:p.(Ile2073Thr)	NC_000012.11:g.2797797T>C	(Likely) benign	1 lab	e4c9dcb0ed
18:48604851 SMAD4 T>G	18	48604851	48604851	T	G	SMAD4	c.*14T>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48604851T>G	(Likely) benign	1 lab	e4cbb5387f
19:55445856 NLRP7 C>T	19	55445856	55445856	C	T	NLRP7	c.2471+1G>A	NM_001127255.2	NP_001120727.1:p.?	NC_000019.9:g.55445856C>T	(Likely) pathogenic	1 lab	e4d0e17cbe
X:153993780 DKC1 C>T	X	153993780	153993780	C	T	DKC1	c.146C>T	NM_001363.4	NP_001354.1:p.(Thr49Met)	NC_000023.10:g.153993780C>T	(Likely) pathogenic	1 lab	e4d2a7ae3d
17:41209108 BRCA1 G>C	17	41209108	41209108	G	C	BRCA1				NC_000017.10:g.41209108G>C	VUS	1 lab	e4d341617b
12:111356949 MYL2 A>G	12	111356949	111356949	A	G	MYL2	c.52T>C	NM_000432.4	NP_000423.2:p.(Phe18Leu)	NC_000012.11:g.111356949A>G	(Likely) pathogenic	1 lab	14b82d15dd
7:154561192 DPP6 G>A	7	154561192	154561192	G	A	DPP6	c.949G>A	NM_130797.4	NP_570629.2:p.(Ala317Thr)	NC_000007.13:g.154561192G>A	(Likely) benign	1 lab	e4d56c3cf7
6:157100465 ARID1B C>T	6	157100465	157100465	C	T	ARID1B	c.1402C>T	NM_020732.3	NP_065783.3:p.(Gln468Ter)	NC_000006.11:g.157100465C>T	(Likely) pathogenic	1 lab	e4da08a5ac
5:140940449 DIAPH1 G>GT	5	140940449	140940456	G	GT	DIAPH1	c.2482+10545dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140940456dup	(Likely) benign	1 lab	14b95e79e5
17:15907146 TTC19 CT>C	17	15907146	15907147	CT	C	TTC19	c.465del	NM_017775.3	NP_060245.3:p.(Glu156AsnfsTer8)	NC_000017.10:g.15907147del	(Likely) pathogenic	1 lab	e4ddabffb2
7:107303776 SLC26A4 C>G	7	107303776	107303776	C	G	SLC26A4	c.200C>G	NM_000441.1	NP_000432.1:p.(Thr67Ser)	NC_000007.13:g.107303776C>G	VUS	1 lab	e4ded740d2
12:48389092 COL2A1 C>T	12	48389092	48389092	C	T	COL2A1	c.709-1G>A	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48389092C>T	(Likely) pathogenic	1 lab	e4e0c607f0
2:47693948 MSH2 G>T	2	47693948	47693948	G	T	MSH2	c.1661+1G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47693948G>T	(Likely) pathogenic	1 lab	e4e326d74e
16:23619184 PALB2 C>G	16	23619184	23619184	C	G	PALB2	c.3350+1G>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23619184C>G	(Likely) pathogenic	1 lab	e4e370b83f
19:13370468 CACNA1A C>T	19	13370468	13370468	C	T	CACNA1A				NC_000019.9:g.13370468C>T	VUS	1 lab	e4e49a3485
11:108115595 ATM G>A	11	108115595	108115595	G	A	ATM	c.743G>A	NM_000051.3	NP_000042.3:p.(Arg248Gln)	NC_000011.9:g.108115595G>A	VUS	1 lab	e4e4e80ae2
17:41276125 BRCA1 C>T	17	41276125	41276125	C	T	BRCA1	c.-12G>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41276125C>T	(Likely) benign	1 lab	e4e86b2836
5:161300148 GABRA1 G>A	5	161300148	161300148	G	A	GABRA1	c.281G>A	NM_000806.5	NP_000797.2:p.(Arg94His)	NC_000005.9:g.161300148G>A	VUS	1 lab	e4e98e76f5
6:161071470 LPA G>A	6	161071470	161071470	G	A	LPA				NC_000006.11:g.161071470G>A	(Likely) pathogenic	1 lab	e5497c0fcd
1:100340950 AGL C>T	1	100340950	100340950	C	T	AGL				NC_000001.10:g.100340950C>T	(Likely) pathogenic	1 lab	e4ed560108
6:32008648 CYP21A2 C>T	6	32008648	32008648	C	T	CYP21A2	c.1225C>T	NM_000500.9	NP_000491.4:p.(Arg409Cys)	NC_000006.11:g.32008648C>T	(Likely) pathogenic	1 lab	e4ef0488d4
16:72821773 ZFHX3 G>A	16	72821773	72821773	G	A	ZFHX3	c.10402C>T	NM_006885.4	NP_008816.3:p.(Arg3468Cys)	NC_000016.9:g.72821773G>A	VUS	1 lab	14c10e64b7
2:73675690 MISSING A>G	2	73675690	73675690	A	G	MISSING				NC_000002.11:g.73675690A>G	VUS	1 lab	e4f2e8d140
6:43011369 CUL7 C>G	6	43011369	43011369	C	G	CUL7	c.3425-1G>C	NM_001168370.1	NP_001161842.1:p.?	NC_000006.11:g.43011369C>G	(Likely) pathogenic	1 lab	e4f3a82153
3:38765081 SCN10A T>C	3	38765081	38765081	T	C	SCN10A	c.3229-37A>G	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38765081T>C	(Likely) benign	1 lab	e4f4461c92
X:8507704 ANOS1 C>T	X	8507704	8507704	C	T	ANOS1	c.1449+1G>A	NM_000216.3	NP_000207.2:p.?	NC_000023.10:g.8507704C>T	(Likely) pathogenic	1 lab	e4faf978af
7:150644716 KCNH2 G>A	7	150644716	150644716	G	A	KCNH2	c.2943C>T	NM_000238.3	NP_000229.1:p.(Ser981=)	NC_000007.13:g.150644716G>A	(Likely) benign	1 lab	e4fb52a707
4:114286356 ANK2 TATG>T	4	114286356	114286359	TATG	T	ANK2	c.11032+19_11032+21del	NM_001148.4	NP_001139.3:p.?	NC_000004.11:g.114286357_114286359del	(Likely) benign	1 lab	e4ff74864c
17:1945976 OVCA2 G>T	17	1945976	1945976	G	T	OVCA2	c.262G>T	NM_080822.2	NP_543012.1:p.(Glu88Ter)	NC_000017.10:g.1945976G>T	VUS	1 lab	e5003a4ef5
19:50750294 MYH14 G>A	19	50750294	50750294	G	A	MYH14	c.1244G>A	NM_001145809.2	NP_001139281.1:p.(Gly415Glu)	NC_000019.9:g.50750294G>A	VUS	1 lab	e50534ba64
4:166951610 TLL1 A>G	4	166951610	166951610	A	G	TLL1	c.1158+5027A>G	NM_012464.4	NP_036596.3:p.?	NC_000004.11:g.166951610A>G	(Likely) benign	1 lab	e50a1cea79
16:23640642 PALB2 T>C	16	23640642	23640642	T	C	PALB2	c.2515-46A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23640642T>C	(Likely) benign	1 lab	e50bee9eb9
10:112724635 SHOC2 G>T	10	112724635	112724635	G	T	SHOC2	c.519G>T	NM_007373.3	NP_031399.2:p.(Met173Ile)	NC_000010.10:g.112724635G>T	(Likely) pathogenic	1 lab	e50da8c318
17:60087998 MED13 T>C	17	60087998	60087998	T	C	MED13	c.1880A>G	NM_005121.3	NP_005112.2:p.(Glu627Gly)	NC_000017.10:g.60087998T>C	(Likely) pathogenic	1 lab	e50e1250b1
12:80696541 OTOGL T>TAAA	12	80696541	80696542	T	TAAA	OTOGL	c.3164_3165insAAA	NM_173591.3	NP_775862.3:p.(Ile1055_Lys1056insAsn)	NC_000012.11:g.80696541_80696542insAAA	VUS	1 lab	e50fd984c6
1:103405892 COL11A1 G>A	1	103405892	103405892	G	A	COL11A1	c.3375C>T	NM_001854.3	NP_001845.3:p.(Asp1125=)	NC_000001.10:g.103405892G>A	(Likely) benign	1 lab	e510bd8b44
11:64359294 SLC22A12 G>A	11	64359294	64359294	G	A	SLC22A12	c.266G>A	NM_144585.4	NP_653186.2:p.(Arg89His)	NC_000011.9:g.64359294G>A	(Likely) benign	1 lab	16aa401d0f
1:39893248 MACF1 C>T	1	39893248	39893248	C	T	MACF1	c.16438C>T	NM_001394062.1	NP_001380991.1:p.(Gln5480Ter)	NC_000001.10:g.39893248C>T	(Likely) pathogenic	1 lab	e5122ab052
19:11280538 KANK2 C>T	19	11280538	11280538	C	T	KANK2	c.2502+15G>A	NM_001136191.2	NP_001129663.1:p.?	NC_000019.9:g.11280538C>T	(Likely) benign	1 lab	16abe6f9a9
19:6686192 C3 G>T	19	6686192	6686192	G	T	C3	c.3753C>A	NM_000064.4	NP_000055.2:p.(Pro1251=)	NC_000019.9:g.6686192G>T	(Likely) benign	1 lab	e51aca51f2
4:77100862 SCARB2 C>T	4	77100862	77100862	C	T	SCARB2	c.424-4G>A	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77100862C>T	(Likely) benign	1 lab	16adad3242
18:59780362 PIGN C>T	18	59780362	59780362	C	T	PIGN	c.1434+5G>A	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59780362C>T	(Likely) pathogenic	1 lab	e51d3e49ee
3:190122576 CLDN16 G>T	3	190122576	190122576	G	T	CLDN16	c.453G>T	NM_006580.3	NP_006571.1:p.(Leu151Phe)	NC_000003.11:g.190122576G>T	(Likely) pathogenic	1 lab	e51e8c850a
12:44180295 IRAK4 G>A	12	44180295	44180295	G	A	IRAK4	c.1282G>A	NM_001114182.2	NP_001107654.1:p.(Ala428Thr)	NC_000012.11:g.44180295G>A	(Likely) benign	1 lab	e5207dfeb4
11:111959663 SDHD C>T	11	111959663	111959663	C	T	SDHD	c.242C>T	NM_003002.2	NP_002993.1:p.(Pro81Leu)	NC_000011.9:g.111959663C>T	(Likely) pathogenic	1 lab	e5234f24e9
7:91624072 AKAP9 A>G	7	91624072	91624072	A	G	AKAP9	c.714A>G	NM_005751.4	NP_005742.4:p.(Leu238=)	NC_000007.13:g.91624072A>G	(Likely) benign	1 lab	e524a106da
X:148571906 IDS C>A	X	148571906	148571906	C	A	IDS	c.945G>T	NM_000202.5	NP_000193.1:p.(Leu315Phe)	NC_000023.10:g.148571906C>A	VUS	1 lab	e526248e78
22:24175879 SMARCB1 C>G	22	24175879	24175879	C	G	SMARCB1	c.1107C>G	NM_003073.3	NP_003064.2:p.(Asp369Glu)	NC_000022.10:g.24175879C>G	(Likely) pathogenic	1 lab	e5264680ab
15:73660063 HCN4 C>A	15	73660063	73660063	C	A	HCN4	c.549G>T	NM_005477.2	NP_005468.1:p.(Ser183=)	NC_000015.9:g.73660063C>A	(Likely) benign	1 lab	e52f33e2c4
2:73786201 MISSING A>G	2	73786201	73786201	A	G	MISSING				NC_000002.11:g.73786201A>G	(Likely) benign	1 lab	e5310c9617
7:138394379 ATP6V0A4 G>A	7	138394379	138394379	G	A	ATP6V0A4	c.2419C>T	NM_020632.2	NP_065683.2:p.(Arg807Ter)	NC_000007.13:g.138394379G>A	(Likely) pathogenic	1 lab	e531e3fef3
19:42753046 ERF TGCACTGCCACC>T	19	42753046	42753059	TGCACTGCCACC	T	ERF	c.1207_1217del	NM_006494.2	NP_006485.2:p.(Gly403ArgfsTer5)	NC_000019.9:g.42753049_42753059del	(Likely) pathogenic	1 lab	e53307ff43
10:89623526 PTEN G>A	10	89623526	89623526	G	A	PTEN	c.-701G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623526G>A	VUS	1 lab	e533a7d8b6
14:64653225 SYNE2 C>T	14	64653225	64653225	C	T	SYNE2	c.17640C>T	NM_182914.2	NP_878918.2:p.(Leu5880=)	NC_000014.8:g.64653225C>T	(Likely) benign	1 lab	e53c3f5d81
1:94668296 ARHGAP29 G>T	1	94668296	94668296	G	T	ARHGAP29	c.955-8C>A	NM_001328664.1	NP_001315593.1:p.?	NC_000001.10:g.94668296G>T	(Likely) pathogenic	1 lab	e53c482bca
1:216595492 USH2A G>A	1	216595492	216595492	G	A	USH2A	c.187C>T	NM_206933.2	NP_996816.2:p.(Arg63Ter)	NC_000001.10:g.216595492G>A	(Likely) pathogenic	1 lab	e53f6d6da0
4:55593610 KIT T>G	4	55593610	55593610	T	G	KIT	c.1676T>G	NM_000222.2	NP_000213.1:p.(Val559Gly)	NC_000004.11:g.55593610T>G	(Likely) pathogenic	1 lab	e541dda5e7
1:94496548 ABCA4 G>A	1	94496548	94496548	G	A	ABCA4				NC_000001.10:g.94496548G>A	(Likely) pathogenic	1 lab	e5428c82fd
10:73571133 CDH23 G>A	10	73571133	73571133	G	A	CDH23	c.9139G>A	NM_022124.5	NP_071407.4:p.(Val3047Ile)	NC_000010.10:g.73571133G>A	VUS	1 lab	e544c8316a
2:167288966 SCN7A A>G	2	167288966	167288966	A	G	SCN7A	c.2454T>C	NM_002976.3	NP_002967.2:p.(Ala818=)	NC_000002.11:g.167288966A>G	(Likely) benign	1 lab	e54560bbb6
14:23884861 MYH7 G>C	14	23884861	23884861	G	C	MYH7	c.5134C>G	NM_000257.2	NP_000248.2:p.(Arg1712Gly)	NC_000014.8:g.23884861G>C	VUS	1 lab	e54695ba23
X:153648482 TAFAZZIN T>G	X	153648482	153648482	T	G	TAFAZZIN	c.646+49T>G	NM_000116.4	NP_000107.1:p.?	NC_000023.10:g.153648482T>G	(Likely) benign	1 lab	e546a99441
1:94476484 ABCA4 A>T	1	94476484	94476484	A	T	ABCA4	c.5586T>A	NM_000350.2	NP_000341.2:p.(Gly1862=)	NC_000001.10:g.94476484A>T	VUS	1 lab	e54979ce22
10:50901809 C10orf53 T>G	10	50901809	50901809	T	G	C10orf53	c.98-11T>G	NM_182554.4	NP_872360.2:p.?	NC_000010.10:g.50901809T>G	(Likely) benign	1 lab	14d6b610c8
11:74168493 KCNE3 G>C	11	74168493	74168493	G	C	KCNE3	c.116C>G	NM_005472.4	NP_005463.1:p.(Pro39Arg)	NC_000011.9:g.74168493G>C	(Likely) benign	1 lab	e57e499e0f
5:149323933 PDE6A G>A	5	149323933	149323933	G	A	PDE6A	c.304C>T	NM_000440.2	NP_000431.2:p.(Arg102Cys)	NC_000005.9:g.149323933G>A	(Likely) pathogenic	1 lab	e54c43e390
2:182521733 CERKL T>C	2	182521733	182521733	T	C	CERKL	c.1A>G	NM_001030311.2	NP_001025482.1:p.(Met1?)	NC_000002.11:g.182521733T>C	(Likely) pathogenic	1 lab	e54cd19d0e
6:51907642 PKHD1 C>A	6	51907642	51907642	C	A	PKHD1	c.3097+15G>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51907642C>A	(Likely) benign	1 lab	16b4c6377a
17:37822739 TCAP G>C	17	37822739	37822739	G	C	TCAP	c.*377G>C	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37822739G>C	(Likely) benign	1 lab	e552478542
1:237753959 RYR2 C>T	1	237753959	237753959	C	T	RYR2	c.3827C>T	NM_001035.2	NP_001026.2:p.(Thr1276Ile)	NC_000001.10:g.237753959C>T	VUS	1 lab	e556396974
16:89348565 ANKRD11 C>CT	16	89348565	89348566	C	CT	ANKRD11	c.4384dup	NM_013275.5	NP_037407.4:p.(Arg1462LysfsTer92)	NC_000016.9:g.89348566dup	(Likely) pathogenic	1 lab	e556a64df1
4:619714 PDE6B G>A	4	619714	619714	G	A	PDE6B	c.299G>A	NM_000283.3	NP_000274.2:p.(Arg100His)	NC_000004.11:g.619714G>A	(Likely) pathogenic	1 lab	e556d4a933
20:42744960 JPH2 G>A	20	42744960	42744960	G	A	JPH2	c.1355C>T	NM_020433.4	NP_065166.2:p.(Pro452Leu)	NC_000020.10:g.42744960G>A	(Likely) benign	1 lab	e556dde822
11:64571978 MEN1 T>G	11	64571978	64571978	T	G	MEN1	c.1661A>C	NM_130799.2	NP_570711.1:p.(Gln554Pro)	NC_000011.9:g.64571978T>G	VUS	1 lab	e55b3bb43f
6:75839850 COL12A1 C>T	6	75839850	75839850	C	T	COL12A1	c.6167G>A	NM_004370.5	NP_004361.3:p.(Arg2056Lys)	NC_000006.11:g.75839850C>T	VUS	1 lab	e55c478df0
3:9787253 BRPF1 A>T	3	9787253	9787253	A	T	BRPF1	c.3069-4A>T	NM_001003694.2	NP_001003694.1:p.?	NC_000003.11:g.9787253A>T	(Likely) benign	1 lab	14e24cf015
8:1719626 CLN8 G>T	8	1719626	1719626	G	T	CLN8	c.406G>T	NM_018941.3	NP_061764.2:p.(Val136Phe)	NC_000008.10:g.1719626G>T	VUS	1 lab	e55e93910c
9:35657803 RMRP C>T	9	35657803	35657803	C	T	RMRP	n.213G>A	NR_003051.3		NC_000009.11:g.35657803C>T	VUS	1 lab	e5d1eb89a1
17:1582486 PRPF8 G>A	17	1582486	1582486	G	A	PRPF8	c.1424C>T	NM_006445.3	NP_006436.3:p.(Ser475Phe)	NC_000017.10:g.1582486G>A	VUS	1 lab	e561d69a2a
19:55668529 TNNI3 C>G	19	55668529	55668529	C	G	TNNI3	c.25-28G>C	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668529C>G	(Likely) benign	1 lab	e562ad4aa1
4:84194658 COQ2 T>C	4	84194658	84194658	T	C	COQ2	c.683A>G	NM_015697.7	NP_056512.5:p.(Asn228Ser)	NC_000004.11:g.84194658T>C	(Likely) pathogenic	1 lab	e565a84178
1:237730075 RYR2 G>A	1	237730075	237730075	G	A	RYR2	c.3423G>A	NM_001035.3	NP_001026.2:p.(Lys1141=)	NC_000001.10:g.237730075G>A	(Likely) benign	1 lab	14e285d064
18:44140046 LOXHD1 G>A	18	44140046	44140046	G	A	LOXHD1	c.3061C>T	NM_144612.6	NP_653213.6:p.(Arg1021Ter)	NC_000018.9:g.44140046G>A	(Likely) pathogenic	1 lab	e56a82d448
12:2910438 MISSING C>A	12	2910438	2910438	C	A	MISSING				NC_000012.11:g.2910438C>A	VUS	1 lab	e56ca47d50
8:38120276 DDHD2 C>A	8	38120276	38120276	C	A	DDHD2	c.*2185C>A	NM_015214.2	NP_056029.2:p.?	NC_000008.10:g.38120276C>A	(Likely) benign	1 lab	e56cec8ea6
6:143094705 HIVEP2 G>A	6	143094705	143094705	G	A	HIVEP2				NC_000006.11:g.143094705G>A	(Likely) benign	1 lab	e575d8a938
5:39202457 FYB1 C>T	5	39202457	39202457	C	T	FYB1	c.606G>A	NM_001465.6	NP_001456.3:p.(Pro202=)	NC_000005.9:g.39202457C>T	(Likely) benign	1 lab	e577c46660
7:107420209 SLC26A3 C>A	7	107420209	107420209	C	A	SLC26A3	c.1312-1G>T	NM_000111.2	NP_000102.1:p.?	NC_000007.13:g.107420209C>A	(Likely) pathogenic	1 lab	e57882ab52
2:47707855 MSH2 G>A	2	47707855	47707855	G	A	MSH2	c.2479G>A	NM_000251.2	NP_000242.1:p.(Gly827Arg)	NC_000002.11:g.47707855G>A	VUS	1 lab	e579d3ef28
8:38325795 FGFR1 C>T	8	38325795	38325795	C	T	FGFR1	c.-385G>A	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38325795C>T	(Likely) benign	1 lab	e57a3c355a
2:179455400 TTN G>C	2	179455400	179455400	G	C	TTN	c.61052C>G	NM_001267550.2	NP_001254479.2:p.(Ala20351Gly)	NC_000002.11:g.179455400G>C	VUS	1 lab	e57b1b0139
5:112175162 APC C>T	5	112175162	112175162	C	T	APC	c.3871C>T	NM_000038.5	NP_000029.2:p.(Gln1291Ter)	NC_000005.9:g.112175162C>T	(Likely) pathogenic	1 lab	e57b1c8265
15:58253454 ALDH1A2 C>T	15	58253454	58253454	C	T	ALDH1A2	c.1227G>A	NM_001206897.2	NP_001193826.1:p.(Thr409=)	NC_000015.9:g.58253454C>T	(Likely) benign	1 lab	14e4e54960
22:21347175 LZTR1 G>T	22	21347175	21347175	G	T	LZTR1	c.1242G>T	NM_006767.3	NP_006758.2:p.(Gly414=)	NC_000022.10:g.21347175G>T	VUS	1 lab	e57cb2c33e
3:53796094 CACNA1D CTCA>C	3	53796094	53796097	CTCA	C	CACNA1D	c.3917_3919del	NM_000720.4	NP_000711.1:p.(Leu1306_Ser1307delinsArg)	NC_000003.11:g.53796095_53796097del	VUS	1 lab	e57d399175
4:114274743 ANK2 A>T	4	114274743	114274743	A	T	ANK2	c.4969A>T	NM_001148.4	NP_001139.3:p.(Thr1657Ser)	NC_000004.11:g.114274743A>T	(Likely) benign	1 lab	e5805ab4b3
14:64492098 SYNE2 G>A	14	64492098	64492098	G	A	SYNE2	c.6211G>A	NM_182914.2	NP_878918.2:p.(Glu2071Lys)	NC_000014.8:g.64492098G>A	(Likely) benign	1 lab	e5809b93b9
1:43396720 SLC2A1 C>T	1	43396720	43396720	C	T	SLC2A1	c.272G>A	NM_006516.4	NP_006507.2:p.(Gly91Asp)	NC_000001.10:g.43396720C>T	(Likely) pathogenic	1 lab	e583357e1f
15:44952805 SPG11 C>T	15	44952805	44952805	C	T	SPG11	c.267G>A	NM_025137.3	NP_079413.3:p.(Trp89Ter)	NC_000015.9:g.44952805C>T	(Likely) pathogenic	1 lab	e588e5562a
2:179468618 TTN C>A	2	179468618	179468618	C	A	TTN	c.54796G>T	NM_001267550.2	NP_001254479.2:p.(Ala18266Ser)	NC_000002.11:g.179468618C>A	(Likely) benign	1 lab	14e4f8f0b7
8:41834618 KAT6A C>T	8	41834618	41834618	C	T	KAT6A	c.1271G>A	NM_006766.5	NP_006757.2:p.(Arg424Gln)	NC_000008.10:g.41834618C>T	VUS	1 lab	14eae4ca9b
10:121436768 BAG3 A>G	10	121436768	121436768	A	G	BAG3	c.1702A>G	NM_004281.3	NP_004272.2:p.(Thr568Ala)	NC_000010.10:g.121436768A>G	(Likely) benign	1 lab	e58b14df02
22:37480775 TMPRSS6 G>T	22	37480775	37480775	G	T	TMPRSS6	c.1105C>A	NM_153609.3	NP_705837.1:p.(His369Asn)	NC_000022.10:g.37480775G>T	VUS	1 lab	e58c1014cc
20:2384361 TGM6 C>T	20	2384361	2384361	C	T	TGM6	c.1228C>T	NM_198994.2	NP_945345.2:p.(Arg410Trp)	NC_000020.10:g.2384361C>T	VUS	1 lab	e58c42fbfd
20:31022885 ASXL1 GTC>G	20	31022885	31022888	GTC	G	ASXL1	c.2372_2373del	NM_015338.5	NP_056153.2:p.(Ser791TrpfsTer8)	NC_000020.10:g.31022887_31022888del	(Likely) pathogenic	1 lab	e58d0d1e5e
12:110232294 TRPV4 T>C	12	110232294	110232294	T	C	TRPV4				NC_000012.11:g.110232294T>C	(Likely) benign	1 lab	e5d2fbdf40
19:55668049 TNNI3 G>A	19	55668049	55668049	G	A	TNNI3	c.109-37C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668049G>A	(Likely) benign	1 lab	e58f561e4c
12:116675333 MED13L A>G	12	116675333	116675333	A	G	MED13L	c.250T>C	NM_015335.5	NP_056150.1:p.(Trp84Arg)	NC_000012.11:g.116675333A>G	VUS	1 lab	14eb3529a8
21:33039600 SOD1 C>T	21	33039600	33039600	C	T	SOD1				NC_000021.8:g.33039600C>T	(Likely) pathogenic	1 lab	e591f3091b
11:76886442 MYO7A C>T	11	76886442	76886442	C	T	MYO7A	c.2119C>T	NM_000260.3	NP_000251.3:p.(Arg707Cys)	NC_000011.9:g.76886442C>T	VUS	1 lab	e594c35be6
5:89992853 ADGRV1 G>A	5	89992853	89992853	G	A	ADGRV1	c.8045G>A	NM_032119.3	NP_115495.3:p.(Ser2682Asn)	NC_000005.9:g.89992853G>A	VUS	1 lab	e59ac68e6f
8:38271753 FGFR1 G>T	8	38271753	38271753	G	T	FGFR1	c.2103C>A	NM_023110.2	NP_075598.2:p.(Tyr701Ter)	NC_000008.10:g.38271753G>T	(Likely) pathogenic	1 lab	e5b9f26d77
2:25462023 DNMT3A C>G	2	25462023	25462023	C	G	DNMT3A	c.2384G>C	NM_175629.2	NP_783328.1:p.(Trp795Ser)	NC_000002.11:g.25462023C>G	(Likely) pathogenic	1 lab	e5a4e6d286
7:155599135 SHH CAG>C	7	155599135	155599140	CAG	C	SHH	c.415_416del	NM_000193.2	NP_000184.1:p.(Leu139AlafsTer13)	NC_000007.13:g.155599139_155599140del	(Likely) pathogenic	1 lab	e5a6c4a23e
6:49412275 MMUT T>G	6	49412275	49412275	T	G	MMUT	c.1676+77A>C	NM_000255.4	NP_000246.2:p.?	NC_000006.11:g.49412275T>G	(Likely) benign	1 lab	16b55b7e32
17:58227435 CA4 C>T	17	58227435	58227435	C	T	CA4	c.40C>T	NM_000717.3	NP_000708.1:p.(Arg14Trp)	NC_000017.10:g.58227435C>T	VUS	1 lab	e5aacc8a4d
1:10032168 NMNAT1 G>A	1	10032168	10032168	G	A	NMNAT1	c.37G>A	NM_022787.3	NP_073624.2:p.(Ala13Thr)	NC_000001.10:g.10032168G>A	(Likely) pathogenic	1 lab	e5ac1cb410
1:196648760 CFH A>G	1	196648760	196648760	A	G	CFH	c.627A>G	NM_000186.4	NP_000177.2:p.(Ser209=)	NC_000001.10:g.196648760A>G	(Likely) benign	1 lab	e5adf58c38
2:230655911 TRIP12 C>A	2	230655911	230655911	C	A	TRIP12	c.4472G>T	NM_001348323.3	NP_001335252.1:p.(Arg1491Ile)	NC_000002.11:g.230655911C>A	VUS	1 lab	e5ae905271
14:62200924 HIF1A G>T	14	62200924	62200924	G	T	HIF1A	c.949G>T	NM_001530.3	NP_001521.1:p.(Val317Phe)	NC_000014.8:g.62200924G>T	VUS	1 lab	e5b028060c
1:201341267 TNNT2 G>C	1	201341267	201341267	G	C	TNNT2	c.52+6C>G	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341267G>C	(Likely) benign	1 lab	e5b072df03
2:32352108 SPAST A>C	2	32352108	32352108	A	C	SPAST	c.1173+17A>C	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32352108A>C	(Likely) benign	1 lab	e5b27b3330
21:35819014 KCNE1 G>A	21	35819014	35819014	G	A	KCNE1	c.*2529C>T	NM_000219.6	NP_000210.2:p.?	NC_000021.8:g.35819014G>A	(Likely) benign	1 lab	e5b74a5bfc
10:73269857 CDH23 T>C	10	73269857	73269857	T	C	CDH23	c.164T>C	NM_022124.6	NP_071407.4:p.(Leu55Ser)	NC_000010.10:g.73269857T>C	VUS	1 lab	e5babc3d00
5:148407722 SH3TC2 A>G	5	148407722	148407722	A	G	SH3TC2	c.1573T>C	NM_024577.3	NP_078853.2:p.(Trp525Arg)	NC_000005.9:g.148407722A>G	VUS	1 lab	e5c0b18a89
9:117054425 COL27A1 C>T	9	117054425	117054425	C	T	COL27A1	c.4519C>T	NM_032888.4	NP_116277.2:p.(Arg1507Ter)	NC_000009.11:g.117054425C>T	(Likely) pathogenic	1 lab	e5c1116840
9:119461219 TRIM32 C>A	9	119461219	119461219	C	A	TRIM32	c.1198C>A	NM_012210.3	NP_036342.2:p.(Arg400Ser)	NC_000009.11:g.119461219C>A	VUS	1 lab	e5c1ccc6d0
15:25223413 SNRPN G>A	15	25223413	25223413	G	A	SNRPN	c.633G>A	NM_001349460.2	NP_001336389.1:p.(Thr211=)	NC_000015.9:g.25223413G>A	(Likely) benign	1 lab	14efd8733c
15:99478548 IGF1R C>T	15	99478548	99478548	C	T	IGF1R	c.3190C>T	NM_000875.5	NP_000866.1:p.(Arg1064Ter)	NC_000015.9:g.99478548C>T	(Likely) pathogenic	1 lab	e5c4a8fea0
5:32385713 ZFR C>T	5	32385713	32385713	C	T	ZFR	c.2542G>A	NM_016107.3	NP_057191.2:p.(Glu848Lys)	NC_000005.9:g.32385713C>T	VUS	1 lab	e5c81b2095
3:38988390 SCN11A C>A	3	38988390	38988390	C	A	SCN11A	c.276G>T	NM_014139.2	NP_054858.2:p.(Met92Ile)	NC_000003.11:g.38988390C>A	(Likely) benign	1 lab	e5c8de82b3
2:215928928 ABCA12 G>A	2	215928928	215928928	G	A	ABCA12	c.178C>T	NM_173076.2	NP_775099.2:p.(Arg60Ter)	NC_000002.11:g.215928928G>A	(Likely) pathogenic	1 lab	e5c91042d9
10:131639261 EBF3 G>A	10	131639261	131639261	G	A	EBF3	c.1381C>T	NM_001005463.2	NP_001005463.1:p.(Arg461Ter)	NC_000010.10:g.131639261G>A	(Likely) pathogenic	1 lab	e5c9163ba6
14:93686568 UBR7 CTT>C	14	93686568	93686586	CTT	C	UBR7	c.961-10_961-9del	NM_175748.4	NP_786924.2:p.?	NC_000014.8:g.93686585_93686586del	(Likely) benign	1 lab	14f4ad933e
11:824805 PNPLA2 C>T	11	824805	824805	C	T	PNPLA2	c.1458C>T	NM_020376.3	NP_065109.1:p.(Pro486=)	NC_000011.9:g.824805C>T	(Likely) benign	1 lab	e5ccedc227
4:1806381 FGFR3 C>T	4	1806381	1806381	C	T	FGFR3	c.1266+134C>T	NM_000142.4	NP_000133.1:p.?	NC_000004.11:g.1806381C>T	(Likely) benign	1 lab	e5cd62e594
9:139266405 CARD9 G>A	9	139266405	139266405	G	A	CARD9	c.126C>T	NM_052813.4	NP_434700.2:p.(Pro42=)	NC_000009.11:g.139266405G>A	(Likely) benign	1 lab	16b8299fac
6:151726896 RMND1 GTGCCCTCTTCTCAT>G	6	151726896	151726911	GTGCCCTCTTCTCAT	G	RMND1	c.1262_1275del	NM_017909.4	NP_060379.2:p.(Asn421ThrfsTer18)	NC_000006.11:g.151726898_151726911del	(Likely) pathogenic	1 lab	14f59ba5bf
3:38743392 SCN10A T>G	3	38743392	38743392	T	G	SCN10A	c.4595A>C	NM_006514.4	NP_006505.4:p.(Gln1532Pro)	NC_000003.11:g.38743392T>G	(Likely) benign	1 lab	e5d673b506
18:52899785 TCF4 T>C	18	52899785	52899785	T	C	TCF4				NC_000018.9:g.52899785T>C	(Likely) pathogenic	1 lab	e5d893d762
17:29652878 NF1 CA>C	17	29652878	29652879	CA	C	NF1	c.4814del	NM_000267.3	NP_000258.1:p.(His1605LeufsTer4)	NC_000017.10:g.29652879del	(Likely) pathogenic	1 lab	e5da0c2c20
17:29556256 NF1 G>T	17	29556256	29556256	G	T	NF1	c.2623G>T	NM_001042492.3	NP_001035957.1:p.(Gly875Cys)	NC_000017.10:g.29556256G>T	VUS	1 lab	e5dd811fb2
10:43613947 RET T>C	10	43613947	43613947	T	C	RET	c.2392+19T>C	NM_020975.4	NP_066124.1:p.?	NC_000010.10:g.43613947T>C	(Likely) benign	1 lab	e5e3bdfd11
11:67223920 CABP4 C>T	11	67223920	67223920	C	T	CABP4	c.541+7C>T	NM_145200.3	NP_660201.1:p.?	NC_000011.9:g.67223920C>T	(Likely) benign	1 lab	e5e6052461
3:48624012 COL7A1 TG>T	3	48624012	48624015	TG	T	COL7A1	c.3386del	NM_000094.4	NP_000085.1:p.(Pro1129GlnfsTer32)	NC_000003.11:g.48624015del	(Likely) pathogenic	1 lab	14fa2e42fe
8:117874161 RAD21 TCA>T	8	117874161	117874163	TCA	T	RAD21				NC_000008.10:g.117874162_117874163del	(Likely) pathogenic	1 lab	e5f03a73da
16:30937218 MISSING T>A	16	30937218	30937218	T	A	MISSING				NC_000016.9:g.30937218T>A	VUS	1 lab	e5f078b03d
8:42698271 THAP1 C>T	8	42698271	42698271	C	T	THAP1	c.-34G>A	NM_018105.2	NP_060575.1:p.?	NC_000008.10:g.42698271C>T	VUS	1 lab	e5f08fdc7d
2:47657048 MSH2 C>G	2	47657048	47657048	C	G	MSH2	c.1244C>G	NM_000251.2	NP_000242.1:p.(Pro415Arg)	NC_000002.11:g.47657048C>G	VUS	1 lab	e5f3e8a698
X:119582987 LAMP2 T>C	X	119582987	119582987	T	C	LAMP2	c.398-4A>G	NM_013995.2	NP_054701.1:p.?	NC_000023.10:g.119582987T>C	(Likely) benign	1 lab	e5f7635033
9:136303502 ADAMTS13 C>G	9	136303502	136303502	C	G	ADAMTS13	c.1705+16C>G	NM_139025.4	NP_620594.1:p.?	NC_000009.11:g.136303502C>G	(Likely) benign	1 lab	16bb717cbb
2:233199179 DIS3L2 T>C	2	233199179	233199179	T	C	DIS3L2	c.2259T>C	NM_152383.4	NP_689596.4:p.(Ser753=)	NC_000002.11:g.233199179T>C	(Likely) benign	1 lab	e5f958d5f3
6:129573398 LAMA2 T>C	6	129573398	129573398	T	C	LAMA2	c.2054T>C	NM_000426.3	NP_000417.2:p.(Leu685Pro)	NC_000006.11:g.129573398T>C	VUS	1 lab	e5fa9e46cf
X:22292378 CBLL2 C>T	X	22292378	22292378	C	T	CBLL2	c.1270C>T	NM_152577.4	NP_689790.1:p.(Arg424Trp)	NC_000023.10:g.22292378C>T	VUS	1 lab	14ff750f6e
12:121435475 HNF1A G>A	12	121435475	121435475	G	A	HNF1A	c.1501+7G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121435475G>A	(Likely) benign	1 lab	1503f5d25c
5:149514414 PDGFRB C>T	5	149514414	149514414	C	T	PDGFRB	c.530G>A	NM_002609.4	NP_002600.1:p.(Arg177His)	NC_000005.9:g.149514414C>T	VUS	1 lab	e5fc82b9f7
7:75959138 YWHAG G>T	7	75959138	75959138	G	T	YWHAG	c.500C>A	NM_012479.4	NP_036611.2:p.(Pro167His)	NC_000007.13:g.75959138G>T	VUS	1 lab	e61594120e
12:124839438 NCOR2 GGCCTTGGCAT>G	12	124839438	124839450	GGCCTTGGCAT	G	NCOR2	c.3389_3398del	NM_001077261.3	NP_001070729.2:p.(His1130ProfsTer25)	NC_000012.11:g.124839441_124839450del	(Likely) pathogenic	1 lab	e5fcc9b66c
5:112174919 APC CAT>C	5	112174919	112174923	CAT	C	APC	c.3631_3632del	NM_000038.6	NP_000029.2:p.(Met1211ValfsTer5)	NC_000005.9:g.112174922_112174923del	(Likely) pathogenic	1 lab	e5fe13112d
8:48874144 MCM4 G>A	8	48874144	48874144	G	A	MCM4	c.139G>A	NM_005914.4	NP_005905.2:p.(Glu47Lys)	NC_000008.10:g.48874144G>A	VUS	1 lab	1507a91f05
1:201330410 TNNT2 A>G	1	201330410	201330410	A	G	TNNT2	c.798T>C	NM_000364.3	NP_000355.2:p.(Tyr266=)	NC_000001.10:g.201330410A>G	(Likely) benign	1 lab	e607047d0e
17:10541440 MYH3 T>A	17	10541440	10541440	T	A	MYH3	c.3649A>T	NM_002470.4	NP_002461.2:p.(Lys1217Ter)	NC_000017.10:g.10541440T>A	(Likely) pathogenic	1 lab	e60742a342
7:128486377 FLNC G>C	7	128486377	128486377	G	C	FLNC	c.3987G>C	NM_001458.4	NP_001449.3:p.(Leu1329=)	NC_000007.13:g.128486377G>C	(Likely) benign	1 lab	e607921dfe
2:179436864 TTN C>A	2	179436864	179436864	C	A	TTN	c.73995G>T	NM_001267550.2	NP_001254479.2:p.(Thr24665=)	NC_000002.11:g.179436864C>A	(Likely) benign	1 lab	e60a262bbc
3:126736436 PLXNA1 G>C	3	126736436	126736436	G	C	PLXNA1	c.3445G>C	NM_032242.3	NP_115618.3:p.(Asp1149His)	NC_000003.11:g.126736436G>C	VUS	1 lab	e60b3691c7
13:60557978 DIAPH3 C>T	13	60557978	60557978	C	T	DIAPH3	c.1405G>A	NM_001042517.2	NP_001035982.1:p.(Val469Ile)	NC_000013.10:g.60557978C>T	(Likely) benign	1 lab	e60f3f7add
2:168114435 XIRP2 C>T	2	168114435	168114435	C	T	XIRP2	c.*108C>T	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168114435C>T	(Likely) benign	1 lab	e613ac5e81
18:21131586 NPC1 C>T	18	21131586	21131586	C	T	NPC1	c.1654+5G>A	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21131586C>T	VUS	1 lab	e613d0ef37
1:197411297 CRB1 T>C	1	197411297	197411297	T	C	CRB1				NC_000001.10:g.197411297T>C	(Likely) pathogenic	1 lab	e6153980c4
X:131212415 FRMD7 G>A	X	131212415	131212415	G	A	FRMD7	c.1630C>T	NM_194277.2	NP_919253.1:p.(Gln544Ter)	NC_000023.10:g.131212415G>A	(Likely) pathogenic	1 lab	e6179ebab2
20:43249744 ADA G>T	20	43249744	43249744	G	T	ADA	c.890C>A	NM_000022.4	NP_000013.2:p.(Pro297Gln)	NC_000020.10:g.43249744G>T	(Likely) pathogenic	1 lab	e619d5efd1
X:31164440 DMD C>T	X	31164440	31164440	C	T	DMD	c.10889G>A	NM_004006.3	NP_003997.2:p.(Arg3630Gln)	NC_000023.10:g.31164440C>T	VUS	1 lab	e619e5f292
5:145718772 POU4F3 C>T	5	145718772	145718772	C	T	POU4F3	c.97C>T	NM_002700.2	NP_002691.1:p.(Arg33Ter)	NC_000005.9:g.145718772C>T	(Likely) pathogenic	1 lab	e61acde907
X:105011024 IL1RAPL2 C>G	X	105011024	105011024	C	G	IL1RAPL2	c.1431C>G	NM_017416.1	NP_059112.1:p.(Asp477Glu)	NC_000023.10:g.105011024C>G	VUS	1 lab	e61b238ae5
2:196825026 DNAH7 A>G	2	196825026	196825026	A	G	DNAH7	c.2849T>C	NM_018897.2	NP_061720.2:p.(Met950Thr)	NC_000002.11:g.196825026A>G	VUS	1 lab	e62548be26
10:16970304 CUBN T>C	10	16970304	16970304	T	C	CUBN				NC_000010.10:g.16970304T>C	(Likely) pathogenic	1 lab	e6685d975f
19:4048053 ZBTB7A G>T	19	4048053	4048053	G	T	ZBTB7A	c.1452C>A	NM_015898.4	NP_056982.1:p.(His484Gln)	NC_000019.9:g.4048053G>T	(Likely) pathogenic	1 lab	e625cc0333
16:30991240 SETD1A A>ACAG	16	30991240	30991256	A	ACAG	SETD1A	c.4147_4149dup	NM_014712.3	NP_055527.1:p.(Ser1383dup)	NC_000016.9:g.30991254_30991256dup	(Likely) benign	1 lab	150d767b54
12:6132936 VWF A>G	12	6132936	6132936	A	G	VWF	c.3240T>C	NM_000552.3	NP_000543.2:p.(Tyr1080=)	NC_000012.11:g.6132936A>G	(Likely) benign	1 lab	e630306a38
17:42636265 FZD2 C>G	17	42636265	42636265	C	G	FZD2	c.1209C>G	NM_001466.3	NP_001457.1:p.(Phe403Leu)	NC_000017.10:g.42636265C>G	VUS	1 lab	e639b73646
7:150645909 KCNH2 G>A	7	150645909	150645909	G	A	KCNH2	c.2592+35C>T	NM_000238.3	NP_000229.1:p.?	NC_000007.13:g.150645909G>A	(Likely) benign	1 lab	e63a064ef8
15:43893733 STRC C>T	15	43893733	43893733	C	T	STRC	c.4562G>A	NM_153700.2	NP_714544.1:p.(Arg1521Gln)	NC_000015.9:g.43893733C>T	(Likely) benign	1 lab	e63abf3ea2
11:121060517 TECTA A>G	11	121060517	121060517	A	G	TECTA				NC_000011.9:g.121060517A>G	VUS	1 lab	e63b49b6b3
12:99194909 ANKS1B A>G	12	99194909	99194909	A	G	ANKS1B	c.3067-6T>C	NM_152788.4	NP_690001.3:p.?	NC_000012.11:g.99194909A>G	(Likely) benign	1 lab	1511fdd4bb
21:44838145 SIK1 G>A	21	44838145	44838145	G	A	SIK1	c.1739C>T	NM_173354.3	NP_775490.2:p.(Thr580Ile)	NC_000021.8:g.44838145G>A	VUS	1 lab	e641f0fe0e
X:18622886 CDKL5 T>A	X	18622886	18622886	T	A	CDKL5	c.1842T>A	NM_003159.2	NP_003150.1:p.(Tyr614Ter)	NC_000023.10:g.18622886T>A	(Likely) pathogenic	1 lab	e642e74fc8
5:92921132 NR2F1 C>T	5	92921132	92921132	C	T	NR2F1	c.403C>T	NM_005654.5	NP_005645.1:p.(Arg135Cys)	NC_000005.9:g.92921132C>T	(Likely) pathogenic	1 lab	e64420fa5a
17:41228618 BRCA1 T>C	17	41228618	41228618	T	C	BRCA1	c.4371A>G	NM_007294.3	NP_009225.1:p.(Ser1457=)	NC_000017.10:g.41228618T>C	(Likely) benign	1 lab	e6464b1d7b
10:97607323 ENTPD1 CA>C	10	97607323	97607324	CA	C	ENTPD1				NC_000010.10:g.97607324del	(Likely) pathogenic	1 lab	e64830942f
3:182775187 MCCC1 C>T	3	182775187	182775187	C	T	MCCC1	c.785G>A	NM_020166.3	NP_064551.3:p.(Gly262Asp)	NC_000003.11:g.182775187C>T	VUS	1 lab	e648df3bdf
X:70389606 NLGN3 C>T	X	70389606	70389606	C	T	NLGN3	c.2206C>T	NM_181303.1	NP_851820.1:p.(Arg736Trp)	NC_000023.10:g.70389606C>T	VUS	1 lab	e64a59f6ac
3:38639331 SCN5A C>G	3	38639331	38639331	C	G	SCN5A	c.2151G>C	NM_198056.2	NP_932173.1:p.(Pro717=)	NC_000003.11:g.38639331C>G	(Likely) benign	1 lab	e64be48230
8:61713079 CHD7 C>T	8	61713079	61713079	C	T	CHD7	c.2371C>T	NM_017780.3	NP_060250.2:p.(Gln791Ter)	NC_000008.10:g.61713079C>T	(Likely) pathogenic	1 lab	e64e464a4b
1:103427407 COL11A1 T>C	1	103427407	103427407	T	C	COL11A1	c.3168+15A>G	NM_001854.3	NP_001845.3:p.?	NC_000001.10:g.103427407T>C	(Likely) benign	1 lab	e6662a2cec
2:47641423 MSH2 CT>C	2	47641423	47641424	CT	C	MSH2	c.809del	NM_000251.3	NP_000242.1:p.(Leu270ArgfsTer4)	NC_000002.11:g.47641424del	(Likely) pathogenic	1 lab	e650112a36
16:56902267 SLC12A3 C>T	16	56902267	56902267	C	T	SLC12A3	c.488C>T	NM_000339.2	NP_000330.2:p.(Thr163Met)	NC_000016.9:g.56902267C>T	VUS	1 lab	e65261ea2c
15:77323660 PSTPIP1 C>T	15	77323660	77323660	C	T	PSTPIP1	c.741+41C>T	NM_003978.3	NP_003969.2:p.?	NC_000015.9:g.77323660C>T	(Likely) benign	1 lab	16c044d6fe
12:6128225 VWF G>A	12	6128225	6128225	G	A	VWF	c.4359C>T	NM_000552.3	NP_000543.2:p.(Ile1453=)	NC_000012.11:g.6128225G>A	(Likely) benign	1 lab	e655aca074
12:112942498 PTPN11 G>C	12	112942498	112942498	G	C	PTPN11	c.1713-1G>C	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112942498G>C	VUS	1 lab	e6567c92e0
14:91806251 CCDC88C C>T	14	91806251	91806251	C	T	CCDC88C	c.601G>A	NM_001080414.4	NP_001073883.2:p.(Asp201Asn)	NC_000014.8:g.91806251C>T	VUS	1 lab	1516b2d855
22:40676079 TNRC6B C>T	22	40676079	40676079	C	T	TNRC6B	c.3343C>T	NM_001162501.1	NP_001155973.1:p.(Arg1115Ter)	NC_000022.10:g.40676079C>T	(Likely) pathogenic	1 lab	e65766a17e
5:88018305 MEF2C CT>C	5	88018305	88018316	CT	C	MEF2C	c.*115del	NM_002397.5	NP_002388.2:p.?	NC_000005.9:g.88018316del	(Likely) benign	1 lab	16c05640e6
18:72999727 TSHZ1 G>A	18	72999727	72999727	G	A	TSHZ1	c.2230G>A	NM_005786.5	NP_005777.3:p.(Ala744Thr)	NC_000018.9:g.72999727G>A	(Likely) benign	1 lab	e65aebc37e
2:179540408 TTN A>G	2	179540408	179540408	A	G	TTN	c.34527T>C	NM_001267550.2	NP_001254479.2:p.(Pro11509=)	NC_000002.11:g.179540408A>G	(Likely) benign	1 lab	e65b86ad75
6:32007944 TNXB C>T	6	32007944	32007944	C	T	TNXB				NC_000006.11:g.32007944C>T	(Likely) pathogenic	1 lab	e65f14cba2
7:103202149 RELN G>A	7	103202149	103202149	G	A	RELN	c.5359C>T	NM_005045.4	NP_005036.2:p.(Arg1787Trp)	NC_000007.13:g.103202149G>A	VUS	1 lab	15175a4624
1:196645169 CFH G>A	1	196645169	196645169	G	A	CFH	c.401G>A	NM_000186.3	NP_000177.2:p.(Trp134Ter)	NC_000001.10:g.196645169G>A	(Likely) pathogenic	1 lab	e661756841
7:77261719 PTPN12 C>T	7	77261719	77261719	C	T	PTPN12	c.2051C>T	NM_002835.3	NP_002826.3:p.(Ser684Leu)	NC_000007.13:g.77261719C>T	VUS	1 lab	e662ffa961
19:46269324 SIX5 G>A	19	46269324	46269324	G	A	SIX5	c.1655C>T	NM_175875.4	NP_787071.2:p.(Thr552Met)	NC_000019.9:g.46269324G>A	(Likely) benign	1 lab	e66328d00d
19:45998247 RTN2 A>G	19	45998247	45998247	A	G	RTN2				NC_000019.9:g.45998247A>G	(Likely) benign	1 lab	e664fe0fdb
20:33576021 MYH7B G>A	20	33576021	33576021	G	A	MYH7B	c.1669G>A	NM_020884.4	NP_065935.3:p.(Asp557Asn)	NC_000020.10:g.33576021G>A	VUS	1 lab	e666e62f72
X:152037442 NSDHL T>C	X	152037442	152037442	T	C	NSDHL	c.904T>C	NM_015922.3	NP_057006.1:p.(Tyr302His)	NC_000023.10:g.152037442T>C	(Likely) benign	1 lab	e6679398c6
19:36210898 KMT2B CGGCG>C	19	36210898	36210903	CGGCG	C	KMT2B	c.651_654del	NM_014727.3	NP_055542.1:p.(Arg218LeufsTer20)	NC_000019.9:g.36210900_36210903del	(Likely) pathogenic	1 lab	e6683afc89
2:228029471 COL4A3 AGGTGCTCCTGCTGCCGCTCCTGCT>A	2	228029471	228029505	AGGTGCTCCTGCTGCCGCTCCTGCT	A	COL4A3	c.40_63del	NM_000091.4	NP_000082.2:p.(Leu14_Leu21del)	NC_000002.11:g.228029482_228029505del	VUS	1 lab	e668f5313d
17:62048552 SCN4A G>A	17	62048552	62048552	G	A	SCN4A	c.673C>T	NM_000334.4	NP_000325.4:p.(Arg225Trp)	NC_000017.10:g.62048552G>A	(Likely) pathogenic	1 lab	e66a400f26
X:153358637 MECP2 C>T	X	153358637	153358637	C	T	MECP2	c.-98-872G>A	NM_004992.4	NP_004983.1:p.?	NC_000023.10:g.153358637C>T	VUS	1 lab	15177f8f82
2:25466854 DNMT3A A>C	2	25466854	25466854	A	C	DNMT3A	c.1852-3T>G	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25466854A>C	VUS	1 lab	e66df75abf
20:47990629 KCNB1 A>G	20	47990629	47990629	A	G	KCNB1	c.1468T>C	NM_004975.2	NP_004966.1:p.(Trp490Arg)	NC_000020.10:g.47990629A>G	VUS	1 lab	e67163e2f2
14:64532140 SYNE2 C>T	14	64532140	64532140	C	T	SYNE2	c.10213-10C>T	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64532140C>T	(Likely) benign	1 lab	e674e6a874
X:24766501 POLA1 G>A	X	24766501	24766501	G	A	POLA1	c.2765G>A	NM_001330360.2	NP_001317289.1:p.(Arg922Gln)	NC_000023.10:g.24766501G>A	VUS	1 lab	15189c71bd
9:125154602 PTGS1 C>A	9	125154602	125154602	C	A	PTGS1	c.1579C>A	NM_000962.4	NP_000953.2:p.(Pro527Thr)	NC_000009.11:g.125154602C>A	VUS	1 lab	e675a8a9d9
11:108153622 ATM A>G	11	108153622	108153622	A	G	ATM	c.3746+16A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108153622A>G	(Likely) benign	1 lab	e675ec6d61
X:39933169 BCOR A>G	X	39933169	39933169	A	G	BCOR	c.1430T>C	NM_001123385.1	NP_001116857.1:p.(Leu477Pro)	NC_000023.10:g.39933169A>G	VUS	1 lab	e67d615d79
X:70346886 MED12 A>T	X	70346886	70346886	A	T	MED12	c.2753A>T	NM_005120.3	NP_005111.2:p.(Tyr918Phe)	NC_000023.10:g.70346886A>T	VUS	1 lab	e67e6592e7
10:71688693 COL13A1 G>A	10	71688693	71688693	G	A	COL13A1				NC_000010.10:g.71688693G>A	VUS	1 lab	e6828d3aa9
5:180043926 FLT4 C>T	5	180043926	180043926	C	T	FLT4	c.3070G>A	NM_182925.4	NP_891555.2:p.(Gly1024Arg)	NC_000005.9:g.180043926C>T	VUS	1 lab	e683687e78
5:112175452 APC T>A	5	112175452	112175452	T	A	APC	c.4161T>A	NM_000038.6	NP_000029.2:p.(Cys1387Ter)	NC_000005.9:g.112175452T>A	(Likely) pathogenic	1 lab	e684b27d16
2:179593309 TTN CA>C	2	179593309	179593310	CA	C	TTN	c.19343del	NM_001267550.2	NP_001254479.2:p.(Met6448ArgfsTer25)	NC_000002.11:g.179593310del	(Likely) benign	1 lab	e684fff1f4
18:29099749 DSG2 A>G	18	29099749	29099749	A	G	DSG2	c.82-17A>G	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29099749A>G	(Likely) benign	1 lab	e688597375
2:71191571 ATP6V1B1 T>TC	2	71191571	71191572	T	TC	ATP6V1B1	c.1147_1148insC	NM_001692.3	NP_001683.2:p.(Tyr383SerfsTer59)	NC_000002.11:g.71191571_71191572insC	(Likely) pathogenic	1 lab	e6885fb5dc
14:99641543 BCL11B GCTCCTC>G	14	99641543	99641570	GCTCCTC	G	BCL11B	c.1624_1629del	NM_138576.4	NP_612808.1:p.(Glu542_Glu543del)	NC_000014.8:g.99641565_99641570del	(Likely) benign	1 lab	151fec839b
3:38627406 SCN5A CA>C	3	38627406	38627407	CA	C	SCN5A	c.2562del	NM_000335.5	NP_000326.2:p.(Val855TrpfsTer14)	NC_000003.11:g.38627407del	(Likely) pathogenic	1 lab	e68ce0675d
8:126044527 WASHC5 C>T	8	126044527	126044527	C	T	WASHC5	c.3291G>A	NM_014846.3	NP_055661.3:p.(Ala1097=)	NC_000008.10:g.126044527C>T	(Likely) benign	1 lab	e68dbd6b54
1:20960448 PINK1 A>G	1	20960448	20960448	A	G	PINK1	c.387+20A>G	NM_032409.3	NP_115785.1:p.?	NC_000001.10:g.20960448A>G	(Likely) benign	1 lab	152121581f
3:48601774 COL7A1 A>G	3	48601774	48601774	A	G	COL7A1	c.*65T>C	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48601774A>G	(Likely) benign	1 lab	e6917eb62c
X:49854817 CLCN5 G>C	X	49854817	49854817	G	C	CLCN5	c.1579G>C	NM_000084.5	NP_000075.1:p.(Glu527Gln)	NC_000023.10:g.49854817G>C	(Likely) pathogenic	1 lab	16c1fdbc36
2:166152389 SCN2A G>A	2	166152389	166152389	G	A	SCN2A	c.56G>A	NM_021007.3	NP_066287.2:p.(Arg19Lys)	NC_000002.11:g.166152389G>A	(Likely) benign	1 lab	16c364e784
10:123256215 FGFR2 T>G	10	123256215	123256215	T	G	FGFR2	c.1694A>C	NM_000141.5	NP_000132.3:p.(Glu565Ala)	NC_000010.10:g.123256215T>G	(Likely) pathogenic	1 lab	e69a1afca8
15:89417256 ACAN G>A	15	89417256	89417256	G	A	ACAN	c.7516+1G>A	NM_013227.3	NP_037359.3:p.?	NC_000015.9:g.89417256G>A	(Likely) benign	1 lab	e69b01943d
12:52307135 ACVRL1 G>A	12	52307135	52307135	G	A	ACVRL1	c.313+1G>A	NM_000020.2	NP_000011.2:p.?	NC_000012.11:g.52307135G>A	(Likely) pathogenic	1 lab	16c64d6d3c
10:89711922 PTEN C>A	10	89711922	89711922	C	A	PTEN	c.540C>A	NM_000314.4	NP_000305.3:p.(Tyr180Ter)	NC_000010.10:g.89711922C>A	(Likely) pathogenic	1 lab	e6a10dabd7
10:88459826 LDB3 G>A	10	88459826	88459826	G	A	LDB3				NC_000010.10:g.88459826G>A	VUS	1 lab	e6a1c8de1d
6:161969975 PRKN A>G	6	161969975	161969975	A	G	PRKN	c.994T>C	NM_004562.2	NP_004553.2:p.(Cys332Arg)	NC_000006.11:g.161969975A>G	VUS	1 lab	e6a3ec3663
12:13722874 GRIN2B G>A	12	13722874	13722874	G	A	GRIN2B	c.2249C>T	NM_000834.3	NP_000825.2:p.(Thr750Ile)	NC_000012.11:g.13722874G>A	(Likely) pathogenic	1 lab	e6a52a68fc
16:89579403 SPG7 G>GAT	16	89579403	89579405	G	GAT	SPG7	c.335_336insTA	NM_003119.3	NP_003110.1:p.(Glu112AspfsTer42)	NC_000016.9:g.89579404_89579405insTA	(Likely) pathogenic	1 lab	e6ab294165
17:41246394 BRCA1 C>T	17	41246394	41246394	C	T	BRCA1	c.1154G>A	NM_007294.4	NP_009225.1:p.(Trp385Ter)	NC_000017.10:g.41246394C>T	(Likely) pathogenic	1 lab	e6abcafba5
7:94052330 COL1A2 G>A	7	94052330	94052330	G	A	COL1A2	c.2465G>A	NM_000089.3	NP_000080.2:p.(Arg822His)	NC_000007.13:g.94052330G>A	VUS	1 lab	16c6bf10cf
2:179577195 TTN C>T	2	179577195	179577195	C	T	TTN	c.27454G>A	NM_001267550.2	NP_001254479.2:p.(Val9152Ile)	NC_000002.11:g.179577195C>T	(Likely) benign	1 lab	e6b3fc76ec
6:26093236 HFE G>A	6	26093236	26093236	G	A	HFE	c.892+48G>A	NM_000410.3	NP_000401.1:p.?	NC_000006.11:g.26093236G>A	(Likely) benign	1 lab	e6b473f40e
7:98608995 TRRAP G>A	7	98608995	98608995	G	A	TRRAP	c.11174G>A	NM_001375524.1	NP_001362453.1:p.(Arg3725Gln)	NC_000007.13:g.98608995G>A	VUS	1 lab	e6b6874c02
12:52201065 SCN8A G>C	12	52201065	52201065	G	C	SCN8A	c.5795G>C	NM_014191.3	NP_055006.1:p.(Arg1932Pro)	NC_000012.11:g.52201065G>C	(Likely) benign	1 lab	e6ba4db8b9
20:33584220 MYH7B G>A	20	33584220	33584220	G	A	MYH7B	c.3141G>A	NM_020884.4	NP_065935.3:p.(Ala1047=)	NC_000020.10:g.33584220G>A	(Likely) benign	1 lab	e6bdd2ebe1
19:38942433 RYR1 C>T	19	38942433	38942433	C	T	RYR1	c.1152C>T	NM_000540.2	NP_000531.2:p.(Asp384=)	NC_000019.9:g.38942433C>T	(Likely) benign	1 lab	16c6ff69bb
22:37485724 TMPRSS6 T>C	22	37485724	37485724	T	C	TMPRSS6	c.757A>G	NM_153609.3	NP_705837.1:p.(Lys253Glu)	NC_000022.10:g.37485724T>C	(Likely) benign	1 lab	e6bfe4263b
17:78084832 GAA C>T	17	78084832	78084832	C	T	GAA	c.1636+8C>T	NM_001079803.2	NP_001073271.1:p.?	NC_000017.10:g.78084832C>T	(Likely) benign	1 lab	e6c1c04228
18:55274731 NARS1 C>T	18	55274731	55274731	C	T	NARS1	c.746G>A	NM_004539.4	NP_004530.1:p.(Arg249Gln)	NC_000018.9:g.55274731C>T	VUS	1 lab	152360dd92
18:19437209 MIB1 G>A	18	19437209	19437209	G	A	MIB1	c.2779+5G>A	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19437209G>A	(Likely) benign	1 lab	e6c5ac4c07
18:29101081 DSG2 A>G	18	29101081	29101081	A	G	DSG2	c.398A>G	NM_001943.4	NP_001934.2:p.(Asp133Gly)	NC_000018.9:g.29101081A>G	VUS	1 lab	e6c8ed0aba
3:37067422 MLH1 C>T	3	37067422	37067422	C	T	MLH1	c.1333C>T	NM_000249.4	NP_000240.1:p.(Gln445Ter)	NC_000003.11:g.37067422C>T	(Likely) pathogenic	1 lab	e6c9c87a59
1:152282311 FLG C>T	1	152282311	152282311	C	T	FLG	c.5051G>A	NM_002016.1	NP_002007.1:p.(Arg1684His)	NC_000001.10:g.152282311C>T	(Likely) benign	1 lab	e6cba09e31
5:96062567 CAST A>T	5	96062567	96062567	A	T	CAST	c.271-626A>T	NM_001042440.5	NP_001035905.1:p.?	NC_000005.9:g.96062567A>T	(Likely) benign	1 lab	152716f1b1
12:95397391 NDUFA12 G>C	12	95397391	95397391	G	C	NDUFA12	c.66C>G	NM_018838.5	NP_061326.1:p.(Gly22=)	NC_000012.11:g.95397391G>C	(Likely) benign	1 lab	1527fdd465
13:110827095 COL4A1 C>T	13	110827095	110827095	C	T	COL4A1	c.3200G>A	NM_001845.5	NP_001836.3:p.(Gly1067Glu)	NC_000013.10:g.110827095C>T	(Likely) pathogenic	1 lab	e6d5f3e628
1:22211590 HSPG2 ACTGT>A	1	22211590	22211597	ACTGT	A	HSPG2	c.1267_1270del	NM_001291860.2	NP_001278789.1:p.(Thr423Ter)	NC_000001.10:g.22211594_22211597del	(Likely) pathogenic	1 lab	152ce4d1c6
7:6776899 PMS2CL C>G	7	6776899	6776899	C	G	PMS2CL	n.278C>G	NR_002217.1		NC_000007.13:g.6776899C>G	VUS	1 lab	e778ef5297
10:101486759 COX15 C>T	10	101486759	101486759	C	T	COX15	c.548G>A	NM_078470.6	NP_510870.1:p.(Arg183His)	NC_000010.10:g.101486759C>T	(Likely) benign	1 lab	152fde94ed
2:227924836 COL4A4 A>C	2	227924836	227924836	A	C	COL4A4	c.2164+16T>G	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227924836A>C	(Likely) benign	1 lab	e6dec657ba
X:24006351 KLHL15 C>T	X	24006351	24006351	C	T	KLHL15	c.1502G>A	NM_030624.3	NP_085127.2:p.(Arg501Lys)	NC_000023.10:g.24006351C>T	VUS	1 lab	e6dffddefd
1:216258194 USH2A G>T	1	216258194	216258194	G	T	USH2A	c.5013C>A	NM_206933.2	NP_996816.2:p.(Gly1671=)	NC_000001.10:g.216258194G>T	(Likely) benign	1 lab	e6e23a0dd9
11:62382196 ROM1 G>A	11	62382196	62382196	G	A	ROM1	c.941G>A	NM_000327.3	NP_000318.1:p.(Gly314Glu)	NC_000011.9:g.62382196G>A	VUS	1 lab	e6e43ae0b0
4:110681092 CFI T>TACAA	4	110681092	110681106	T	TACAA	CFI	c.883+330_883+333dup	NM_000204.3	NP_000195.2:p.?	NC_000004.11:g.110681103_110681106dup	(Likely) benign	1 lab	16c966c309
X:53230860 KDM5C C>A	X	53230860	53230860	C	A	KDM5C				NC_000023.10:g.53230860C>A	(Likely) pathogenic	1 lab	16c9833231
19:42474335 ATP1A3 A>G	19	42474335	42474335	A	G	ATP1A3	c.2542+2T>C	NM_152296.4	NP_689509.1:p.?	NC_000019.9:g.42474335A>G	(Likely) pathogenic	1 lab	e6ec71ad8b
14:102454933 DYNC1H1 C>A	14	102454933	102454933	C	A	DYNC1H1	c.2719-107C>A	NM_001376.4	NP_001367.2:p.?	NC_000014.8:g.102454933C>A	(Likely) benign	1 lab	16c99655e6
5:160886646 GABRB2 C>T	5	160886646	160886646	C	T	GABRB2	c.442G>A	NM_021911.2	NP_068711.1:p.(Val148Ile)	NC_000005.9:g.160886646C>T	VUS	1 lab	e6f2259311
2:166152222 SCN2A A>G	2	166152222	166152222	A	G	SCN2A	c.-51-61A>G	NM_021007.3	NP_066287.2:p.?	NC_000002.11:g.166152222A>G	(Likely) benign	1 lab	16ca6e1690
6:7579761 DSP G>A	6	7579761	7579761	G	A	DSP	c.3338G>A	NM_004415.2	NP_004406.2:p.(Arg1113Gln)	NC_000006.11:g.7579761G>A	(Likely) benign	1 lab	16cc9dfa12
16:3293302 MEFV T>C	16	3293302	3293302	T	C	MEFV	c.2185A>G	NM_000243.2	NP_000234.1:p.(Ile729Val)	NC_000016.9:g.3293302T>C	VUS	1 lab	16d3b86cba
17:18053774 MYO15A G>A	17	18053774	18053774	G	A	MYO15A	c.7244G>A	NM_016239.4	NP_057323.3:p.(Arg2415His)	NC_000017.10:g.18053774G>A	VUS	1 lab	e6f4a8bb41
14:57270916 OTX2 G>A	14	57270916	57270916	G	A	OTX2	c.263C>T	NM_021728.3	NP_068374.1:p.(Ser88Leu)	NC_000014.8:g.57270916G>A	VUS	1 lab	e6f7269e8c
19:5680197 MICOS13 C>G	19	5680197	5680197	C	G	MICOS13	c.29+272G>C	NM_205767.2	NP_991330.1:p.?	NC_000019.9:g.5680197C>G	(Likely) pathogenic	1 lab	e6f8926e06
17:17929630 ATPAF2 T>A	17	17929630	17929630	T	A	ATPAF2				NC_000017.10:g.17929630T>A	VUS	1 lab	e6f8c4e3cb
15:89870561 POLG G>C	15	89870561	89870561	G	C	POLG	c.1270C>G	NM_002693.3	NP_002684.1:p.(Leu424Val)	NC_000015.9:g.89870561G>C	VUS	1 lab	15362de0cf
12:27835347 MISSING C>T	12	27835347	27835347	C	T	MISSING				NC_000012.11:g.27835347C>T	VUS	1 lab	e6fb842143
7:6786731 PMS2CL C>T	7	6786731	6786731	C	T	PMS2CL	n.1280C>T	NR_002217.1		NC_000007.13:g.6786731C>T	(Likely) benign	1 lab	e6fd0e3f0f
17:1554098 PRPF8 A>G	17	1554098	1554098	A	G	PRPF8				NC_000017.10:g.1554098A>G	(Likely) pathogenic	1 lab	e6ff7c1413
X:85128132 CHM A>T	X	85128132	85128132	A	T	CHM	c.1695T>A	NM_000390.2	NP_000381.1:p.(Tyr565Ter)	NC_000023.10:g.85128132A>T	(Likely) pathogenic	1 lab	e700cc2ac1
20:42788905 JPH2 C>T	20	42788905	42788905	C	T	JPH2	c.522G>A	NM_020433.4	NP_065166.2:p.(Thr174=)	NC_000020.10:g.42788905C>T	(Likely) benign	1 lab	e701f62bcd
5:112176982 APC C>T	5	112176982	112176982	C	T	APC	c.5691C>T	NM_000038.6	NP_000029.2:p.(His1897=)	NC_000005.9:g.112176982C>T	(Likely) benign	1 lab	e7044c1d29
17:29657331 NF1 T>G	17	29657331	29657331	T	G	NF1	c.5627T>G	NM_001042492.2	NP_001035957.1:p.(Leu1876Arg)	NC_000017.10:g.29657331T>G	(Likely) pathogenic	1 lab	e705a2f6b8
14:65271517 SPTB C>T	14	65271517	65271517	C	T	SPTB	c.300+140G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271517C>T	(Likely) benign	1 lab	16d86ebcbf
12:22017397 ABCC9 T>C	12	22017397	22017397	T	C	ABCC9	c.2213A>G	NM_005691.3	NP_005682.2:p.(Glu738Gly)	NC_000012.11:g.22017397T>C	VUS	1 lab	e70e1626f9
15:28196980 OCA2 A>T	15	28196980	28196980	A	T	OCA2	c.1901T>A	NM_000275.2	NP_000266.2:p.(Ile634Asn)	NC_000015.9:g.28196980A>T	(Likely) pathogenic	1 lab	e70feca694
18:21153416 NPC1 C>A	18	21153416	21153416	C	A	NPC1	c.180G>T	NM_000271.4	NP_000262.2:p.(Gln60His)	NC_000018.9:g.21153416C>A	VUS	1 lab	e7163bfc29
1:237758902 RYR2 C>T	1	237758902	237758902	C	T	RYR2	c.4541C>T	NM_001035.3	NP_001026.2:p.(Ala1514Val)	NC_000001.10:g.237758902C>T	VUS	1 lab	e7165bef60
1:228554516 OBSCN T>G	1	228554516	228554516	T	G	OBSCN	c.22224T>G	NM_001271223.2	NP_001258152.2:p.(Asn7408Lys)	NC_000001.10:g.228554516T>G	(Likely) benign	1 lab	e71751f010
2:179591966 TTN G>A	2	179591966	179591966	G	A	TTN	c.20126C>T	NM_001267550.2	NP_001254479.2:p.(Pro6709Leu)	NC_000002.11:g.179591966G>A	(Likely) benign	1 lab	e7175f5793
1:156084784 LMNA C>G	1	156084784	156084784	C	G	LMNA	c.75C>G	NM_170707.3	NP_733821.1:p.(Arg25=)	NC_000001.10:g.156084784C>G	(Likely) benign	1 lab	e7184f6d58
11:17415881 ABCC8 G>A	11	17415881	17415881	G	A	ABCC8	c.4477C>T	NM_000352.4	NP_000343.2:p.(Arg1493Trp)	NC_000011.9:g.17415881G>A	(Likely) pathogenic	1 lab	e7185e5981
2:179616746 TTN AT>A	2	179616746	179616748	AT	A	TTN	c.10380del	NM_133379.5	NP_596870.2:p.(Glu3460AspfsTer19)	NC_000002.11:g.179616748del	(Likely) pathogenic	1 lab	15395ac6a0
17:7592168 WRAP53 C>G	17	7592168	7592168	C	G	WRAP53	c.202C>G	NM_018081.2	NP_060551.2:p.(Arg68Gly)	NC_000017.10:g.7592168C>G	(Likely) benign	1 lab	e71c2fef17
19:1206439 STK11 G>A	19	1206439	1206439	G	A	STK11	c.-474G>A	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1206439G>A	(Likely) benign	1 lab	e71cb94ca5
21:47542428 COL6A2 G>A	21	47542428	47542428	G	A	COL6A2	c.1591G>A	NM_001849.3	NP_001840.3:p.(Gly531Ser)	NC_000021.8:g.47542428G>A	(Likely) pathogenic	1 lab	e71cbbe02f
12:133250118 POLE C>T	12	133250118	133250118	C	T	POLE	c.1359+43G>A	NM_006231.3	NP_006222.2:p.?	NC_000012.11:g.133250118C>T	(Likely) benign	1 lab	e71d27ca54
X:10450573 MID1 CAG>C	X	10450573	10450579	CAG	C	MID1	c.958_959del	NM_000381.3	NP_000372.1:p.(Leu320GlufsTer4)	NC_000023.10:g.10450578_10450579del	(Likely) pathogenic	1 lab	e71d54d883
2:32362213 SPAST G>T	2	32362213	32362213	G	T	SPAST	c.1449G>T	NM_014946.3	NP_055761.2:p.(Met483Ile)	NC_000002.11:g.32362213G>T	(Likely) pathogenic	1 lab	e71ef02112
4:114239712 ANK2 C>T	4	114239712	114239712	C	T	ANK2	c.2836C>T	NM_001148.5	NP_001139.3:p.(Arg946Cys)	NC_000004.11:g.114239712C>T	VUS	1 lab	e7229dc256
3:119209396 POGLUT1 A>C	3	119209396	119209396	A	C	POGLUT1	c.798-2A>C	NM_152305.3	NP_689518.1:p.?	NC_000003.11:g.119209396A>C	(Likely) pathogenic	1 lab	e726b9ee96
3:133748789 SLCO2A1 T>C	3	133748789	133748789	T	C	SLCO2A1	c.-143A>G	NM_005630.2	NP_005621.2:p.?	NC_000003.11:g.133748789T>C	(Likely) benign	1 lab	e728648596
6:152545651 SYNE1 T>A	6	152545651	152545651	T	A	SYNE1	c.21500A>T	NM_182961.3	NP_892006.3:p.(Gln7167Leu)	NC_000006.11:g.152545651T>A	VUS	1 lab	e729753723
1:196918703 CFHR2 T>G	1	196918703	196918703	T	G	CFHR2	c.177T>G	NM_005666.3	NP_005657.1:p.(Phe59Leu)	NC_000001.10:g.196918703T>G	VUS	1 lab	e72efcc6cc
16:9923328 GRIN2A C>T	16	9923328	9923328	C	T	GRIN2A	c.1959G>A	NM_000833.3	NP_000824.1:p.(Met653Ile)	NC_000016.9:g.9923328C>T	(Likely) pathogenic	1 lab	e72f1e8581
3:14197927 XPC A>T	3	14197927	14197927	A	T	XPC	c.1941T>A	NM_004628.5	NP_004619.3:p.(Tyr647Ter)	NC_000003.11:g.14197927A>T	(Likely) pathogenic	1 lab	e72fead607
2:48033630 MSH6 G>A	2	48033630	48033630	G	A	MSH6	c.3841G>A	NM_000179.2	NP_000170.1:p.(Glu1281Lys)	NC_000002.11:g.48033630G>A	VUS	1 lab	e738e7d30a
17:7578413 TP53 C>T	17	7578413	7578413	C	T	TP53	c.517G>A	NM_000546.6	NP_000537.3:p.(Val173Met)	NC_000017.10:g.7578413C>T	(Likely) pathogenic	1 lab	e739ec6175
9:139311571 PMPCA C>T	9	139311571	139311571	C	T	PMPCA				NC_000009.11:g.139311571C>T	VUS	1 lab	e739ecd2e7
1:234745195 IRF2BP2 A>C	1	234745195	234745195	A	C	IRF2BP2	c.46T>G	NM_182972.3	NP_892017.2:p.(Cys16Gly)	NC_000001.10:g.234745195A>C	VUS	1 lab	e739eda786
9:131386654 SPTAN1 C>T	9	131386654	131386654	C	T	SPTAN1	c.5880C>T	NM_001130438.3	NP_001123910.1:p.(Asn1960=)	NC_000009.11:g.131386654C>T	(Likely) benign	1 lab	1541998abc
22:30070841 NF2 C>T	22	30070841	30070841	C	T	NF2	c.1357C>T	NM_000268.4	NP_000259.1:p.(Gln453Ter)	NC_000022.10:g.30070841C>T	(Likely) pathogenic	1 lab	e73aff693f
10:89690847 PTEN G>T	10	89690847	89690847	G	T	PTEN	c.253+1G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89690847G>T	(Likely) pathogenic	1 lab	e73b1ba6a9
16:31012909 STX1B C>T	16	31012909	31012909	C	T	STX1B	c.46G>A	NM_052874.5	NP_443106.1:p.(Asp16Asn)	NC_000016.9:g.31012909C>T	VUS	1 lab	e73dcf5c5b
6:133834106 EYA4 G>A	6	133834106	133834106	G	A	EYA4	c.1431G>A	NM_004100.4	NP_004091.3:p.(Trp477Ter)	NC_000006.11:g.133834106G>A	(Likely) pathogenic	1 lab	e74be60355
3:10452301 ATP2B2 C>T	3	10452301	10452301	C	T	ATP2B2	c.397+1G>A	NM_001001331.2	NP_001001331.1:p.?	NC_000003.11:g.10452301C>T	(Likely) pathogenic	1 lab	e74c07f118
13:23906391 SACS C>T	13	23906391	23906391	C	T	SACS	c.11624G>A	NM_014363.5	NP_055178.3:p.(Arg3875His)	NC_000013.10:g.23906391C>T	VUS	1 lab	e74e0ef034
9:35807361 NPR2 T>C	9	35807361	35807361	T	C	NPR2	c.2678T>C	NM_003995.4	NP_003986.2:p.(Phe893Ser)	NC_000009.11:g.35807361T>C	VUS	1 lab	e74e3d1552
19:6850690 VAV1 C>T	19	6850690	6850690	C	T	VAV1	c.2139C>T	NM_005428.4	NP_005419.2:p.(Val713=)	NC_000019.9:g.6850690C>T	(Likely) benign	1 lab	154323ee7c
14:102495925 DYNC1H1 C>G	14	102495925	102495925	C	G	DYNC1H1	c.9518C>G	NM_001376.4	NP_001367.2:p.(Pro3173Arg)	NC_000014.8:g.102495925C>G	(Likely) pathogenic	1 lab	e74ee8d38d
13:32953453 BRCA2 G>C	13	32953453	32953453	G	C	BRCA2	c.8755-1G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32953453G>C	(Likely) pathogenic	1 lab	e74efdab2e
16:29802110 KIF22 GC>G	16	29802110	29802111	GC	G	KIF22				NC_000016.9:g.29802111del	VUS	1 lab	e754dd605c
11:61205434 SDHAF2 G>A	11	61205434	61205434	G	A	SDHAF2	c.261-42G>A	NM_017841.2	NP_060311.1:p.?	NC_000011.9:g.61205434G>A	(Likely) benign	1 lab	e758d23e6c
11:76901927 MYO7A C>T	11	76901927	76901927	C	T	MYO7A	c.3924+12C>T	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76901927C>T	(Likely) benign	1 lab	e75c13e1fb
12:2797693 CACNA1C A>C	12	2797693	2797693	A	C	CACNA1C	c.5865A>C	NM_000719.6	NP_000710.5:p.(Pro1955=)	NC_000012.11:g.2797693A>C	(Likely) benign	1 lab	e763df6ba0
X:64137745 ZC4H2 C>T	X	64137745	64137745	C	T	ZC4H2				NC_000023.10:g.64137745C>T	(Likely) pathogenic	1 lab	e769e40656
11:76919865 MYO7A T>A	11	76919865	76919865	T	A	MYO7A	c.6051+17T>A	NM_000260.3	NP_000251.3:p.?	NC_000011.9:g.76919865T>A	(Likely) benign	1 lab	e769e93e7c
12:52200964 SCN8A T>A	12	52200964	52200964	T	A	SCN8A	c.5694T>A	NM_014191.4	NP_055006.1:p.(Ser1898=)	NC_000012.11:g.52200964T>A	(Likely) benign	1 lab	e76cd744f8
12:100887181 NR1H4 G>T	12	100887181	100887181	G	T	NR1H4	c.79+1G>T	NM_001206977.2	NP_001193906.1:p.?	NC_000012.11:g.100887181G>T	(Likely) pathogenic	1 lab	15438564d0
2:166245183 SCN2A A>C	2	166245183	166245183	A	C	SCN2A	c.4867A>C	NM_021007.3	NP_066287.2:p.(Thr1623Pro)	NC_000002.11:g.166245183A>C	(Likely) pathogenic	1 lab	e7720c450f
6:42672347 PRPH2 C>T	6	42672347	42672347	C	T	PRPH2	c.584G>A	NM_000322.4	NP_000313.2:p.(Arg195Gln)	NC_000006.11:g.42672347C>T	(Likely) pathogenic	1 lab	e773ad3e4e
1:228487832 OBSCN C>T	1	228487832	228487832	C	T	OBSCN	c.13724C>T	NM_001271223.2	NP_001258152.2:p.(Thr4575Met)	NC_000001.10:g.228487832C>T	(Likely) benign	1 lab	e774674116
20:50408341 SALL4 C>CGATGT	20	50408341	50408342	C	CGATGT	SALL4				NC_000020.10:g.50408341_50408342insGATGT	(Likely) pathogenic	1 lab	e7769915c1
22:42180353 MEI1 C>T	22	42180353	42180353	C	T	MEI1	c.3098C>T	NM_152513.4	NP_689726.3:p.(Thr1033Ile)	NC_000022.10:g.42180353C>T	VUS	1 lab	e7785ff6ff
1:116245655 CASQ2 G>C	1	116245655	116245655	G	C	CASQ2	c.940-39C>G	NM_001232.3	NP_001223.2:p.?	NC_000001.10:g.116245655G>C	(Likely) benign	1 lab	e782eee222
2:179637875 TTN C>T	2	179637875	179637875	C	T	TTN	c.7816G>A	NM_001267550.2	NP_001254479.2:p.(Ala2606Thr)	NC_000002.11:g.179637875C>T	VUS	1 lab	e7833e734d
17:29496819 NF1 C>T	17	29496819	29496819	C	T	NF1	c.480-90C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29496819C>T	(Likely) benign	1 lab	e7835defd5
16:27692752 KATNIP C>T	16	27692752	27692752	C	T	KATNIP	c.841C>T	NM_015202.3	NP_056017.3:p.(Arg281Trp)	NC_000016.9:g.27692752C>T	(Likely) benign	1 lab	16dade1968
1:215844430 USH2A A>G	1	215844430	215844430	A	G	USH2A	c.14017T>C	NM_206933.2	NP_996816.2:p.(Tyr4673His)	NC_000001.10:g.215844430A>G	VUS	1 lab	e7853ee737
11:76871305 MYO7A G>T	11	76871305	76871305	G	T	MYO7A	c.1177G>T	NM_000260.4	NP_000251.3:p.(Asp393Tyr)	NC_000011.9:g.76871305G>T	VUS	1 lab	e78d6a70b0
8:21978649 HR C>T	8	21978649	21978649	C	T	HR	c.2296G>A	NM_005144.4	NP_005135.2:p.(Ala766Thr)	NC_000008.10:g.21978649C>T	VUS	1 lab	e78d778b35
5:112170646 APC A>T	5	112170646	112170646	A	T	APC	c.1744-2A>T	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112170646A>T	(Likely) pathogenic	1 lab	e7938c3b88
3:37042559 MLH1 C>G	3	37042559	37042559	C	G	MLH1	c.306+15C>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37042559C>G	(Likely) benign	1 lab	e79a034af0
7:24746001 GSDME G>C	7	24746001	24746001	G	C	GSDME	c.991-6C>G	NM_004403.2	NP_004394.1:p.?	NC_000007.13:g.24746001G>C	(Likely) pathogenic	1 lab	e79caf8905
2:179597743 TTN C>G	2	179597743	179597743	C	G	TTN	c.16160G>C	NM_001267550.1	NP_001254479.1:p.(Arg5387Thr)	NC_000002.11:g.179597743C>G	(Likely) benign	1 lab	e79deffce3
3:37089032 MLH1 T>C	3	37089032	37089032	T	C	MLH1	c.1754T>C	NM_000249.4	NP_000240.1:p.(Leu585Pro)	NC_000003.11:g.37089032T>C	VUS	1 lab	e79df7f4a6
X:67652762 OPHN1 T>C	X	67652762	67652762	T	C	OPHN1	c.101A>G	NM_002547.2	NP_002538.1:p.(Lys34Arg)	NC_000023.10:g.67652762T>C	VUS	1 lab	e79f5080ae
11:108141701 ATM G>T	11	108141701	108141701	G	T	ATM	c.2839-90G>T	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108141701G>T	(Likely) benign	1 lab	16dbe59e55
1:241676884 FH C>T	1	241676884	241676884	C	T	FH	c.378+19G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241676884C>T	(Likely) benign	1 lab	e7a5e9fc1e
11:76891001 MYO7A T>C	11	76891001	76891001	T	C	MYO7A	c.2586+2T>C	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76891001T>C	(Likely) pathogenic	1 lab	e7a9ca38ff
11:46726304 ZNF408 C>T	11	46726304	46726304	C	T	ZNF408	c.1054C>T	NM_024741.2	NP_079017.1:p.(Arg352Trp)	NC_000011.9:g.46726304C>T	VUS	1 lab	e7b1414af8
X:41205855 DDX3X C>T	X	41205855	41205855	C	T	DDX3X	c.1595C>T	NM_001356.4	NP_001347.3:p.(Thr532Met)	NC_000023.10:g.41205855C>T	VUS	1 lab	e7b48411dc
19:55666089 TNNI3 G>A	19	55666089	55666089	G	A	TNNI3	c.372+20C>T	NM_000363.5	NP_000354.4:p.?	NC_000019.9:g.55666089G>A	(Likely) benign	1 lab	e7b4a4d1d3
3:41266622 CTNNB1 T>A	3	41266622	41266622	T	A	CTNNB1				NC_000003.11:g.41266622T>A	VUS	1 lab	e7b8b34a75
20:13605846 TASP1 G>A	20	13605846	13605846	G	A	TASP1	c.199C>T	NM_017714.3	NP_060184.2:p.(Arg67Ter)	NC_000020.10:g.13605846G>A	(Likely) pathogenic	1 lab	e7bc8db349
11:64577469 MEN1 G>A	11	64577469	64577469	G	A	MEN1	c.113C>T	NM_130803.2	NP_570715.1:p.(Ser38Phe)	NC_000011.9:g.64577469G>A	VUS	1 lab	16dc24fa80
12:76741492 BBS10 G>C	12	76741492	76741492	G	C	BBS10	c.273C>G	NM_024685.3	NP_078961.3:p.(Cys91Trp)	NC_000012.11:g.76741492G>C	(Likely) pathogenic	1 lab	e7c0db04a6
13:39266655 FREM2 G>T	13	39266655	39266655	G	T	FREM2	c.5173+1G>T	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39266655G>T	VUS	1 lab	16dd2e0925
16:31500661 SLC5A2 T>C	16	31500661	31500661	T	C	SLC5A2	c.1665+2T>C	NM_003041.3	NP_003032.1:p.?	NC_000016.9:g.31500661T>C	(Likely) pathogenic	1 lab	e7c2a85eb0
5:112111320 APC A>G	5	112111320	112111320	A	G	APC	c.423-6A>G	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112111320A>G	(Likely) pathogenic	1 lab	e7c57ff4b2
5:112175788 APC AT>A	5	112175788	112175792	AT	A	APC	c.4501del	NM_000038.6	NP_000029.2:p.(Ser1501LeufsTer6)	NC_000005.9:g.112175792del	(Likely) pathogenic	1 lab	e7c647ee14
2:170070332 LRP2 G>A	2	170070332	170070332	G	A	LRP2	c.5875C>T	NM_004525.2	NP_004516.2:p.(Gln1959Ter)	NC_000002.11:g.170070332G>A	(Likely) pathogenic	1 lab	e7c824e495
11:32456377 WT1 G>A	11	32456377	32456377	G	A	WT1	c.530C>T	NM_024426.5	NP_077744.4:p.(Ala177Val)	NC_000011.9:g.32456377G>A	(Likely) pathogenic	1 lab	e7d687a76e
19:55665323 TNNI3 CCTCAGG>C	19	55665323	55665330	CCTCAGG	C	TNNI3	c.549+69_549+74del	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55665325_55665330del	VUS	1 lab	e7d8b4ca56
9:14179741 NFIB C>G	9	14179741	14179741	C	G	NFIB	c.601G>C	NM_001190737.2	NP_001177666.1:p.(Ala201Pro)	NC_000009.11:g.14179741C>G	(Likely) benign	1 lab	e7da671a69
6:46047640 CLIC5 T>C	6	46047640	46047640	T	C	CLIC5	c.340A>G	NM_001114086.1	NP_001107558.1:p.(Thr114Ala)	NC_000006.11:g.46047640T>C	(Likely) benign	1 lab	e7de8803d9
1:119466211 TBX15 T>C	1	119466211	119466211	T	C	TBX15	c.391A>G	NM_152380.3	NP_689593.2:p.(Met131Val)	NC_000001.10:g.119466211T>C	VUS	1 lab	e7e505ab20
12:111348963 MYL2 G>A	12	111348963	111348963	G	A	MYL2	c.419C>T	NM_000432.3	NP_000423.2:p.(Ala140Val)	NC_000012.11:g.111348963G>A	VUS	1 lab	e7e570c266
14:102499443 DYNC1H1 A>T	14	102499443	102499443	A	T	DYNC1H1	c.10121A>T	NM_001376.4	NP_001367.2:p.(Asn3374Ile)	NC_000014.8:g.102499443A>T	(Likely) benign	1 lab	e7e82e3a82
2:47702037 MSH2 T>A	2	47702037	47702037	T	A	MSH2	c.1760-127T>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702037T>A	(Likely) benign	1 lab	e7ed83b1d1
4:79394836 FRAS1 C>G	4	79394836	79394836	C	G	FRAS1	c.7682+85C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79394836C>G	(Likely) benign	1 lab	16e0ea1538
7:4824667 AP5Z1 C>T	7	4824667	4824667	C	T	AP5Z1	c.919C>T	NM_014855.2	NP_055670.1:p.(Gln307Ter)	NC_000007.13:g.4824667C>T	(Likely) pathogenic	1 lab	e7f2f963b7
18:2922259 LPIN2 CA>C	18	2922259	2922269	CA	C	LPIN2	c.2175-63del	NM_001375808.2	NP_001362737.1:p.?	NC_000018.9:g.2922269del	(Likely) benign	1 lab	16e4a6796e
11:19204187 CSRP3 C>T	11	19204187	19204187	C	T	CSRP3	c.*30G>A	NM_003476.5	NP_003467.1:p.?	NC_000011.9:g.19204187C>T	(Likely) benign	1 lab	e7f5a57086
17:1554416 PRPF8 T>G	17	1554416	1554416	T	G	PRPF8	c.6839A>C	NM_006445.4	NP_006436.3:p.(Asn2280Thr)	NC_000017.10:g.1554416T>G	VUS	1 lab	e7f7fedfd2
X:153657063 ATP6AP1 C>T	X	153657063	153657063	C	T	ATP6AP1	c.25C>T	NM_001183.6	NP_001174.2:p.(Arg9Ter)	NC_000023.10:g.153657063C>T	(Likely) pathogenic	1 lab	e7f9d5255e
7:6026444 PMS2 T>C	7	6026444	6026444	T	C	PMS2	c.1952A>G	NM_000535.7	NP_000526.2:p.(Lys651Arg)	NC_000007.13:g.6026444T>C	(Likely) benign	1 lab	e7fff0718c
15:63353124 TPM1 T>C	15	63353124	63353124	T	C	TPM1	c.549T>C	NM_001018005.1	NP_001018005.1:p.(Ala183=)	NC_000015.9:g.63353124T>C	(Likely) benign	1 lab	e80239cdc2
17:7348625 CHRNB1 A>G	17	7348625	7348625	A	G	CHRNB1	c.95A>G	NM_000747.3	NP_000738.2:p.(Glu32Gly)	NC_000017.10:g.7348625A>G	(Likely) benign	1 lab	154bac3327
17:48268204 COL1A1 C>T	17	48268204	48268204	C	T	COL1A1	c.2317G>A	NM_000088.4	NP_000079.2:p.(Gly773Ser)	NC_000017.10:g.48268204C>T	(Likely) pathogenic	1 lab	e807ff062b
17:17921948 ATPAF2 A>G	17	17921948	17921948	A	G	ATPAF2				NC_000017.10:g.17921948A>G	VUS	1 lab	e8dbbc59ea
7:154593119 DPP6 A>G	7	154593119	154593119	A	G	DPP6	c.1354A>G	NM_130797.4	NP_570629.2:p.(Ile452Val)	NC_000007.13:g.154593119A>G	(Likely) benign	1 lab	e8095f4941
X:110928268 ALG13 A>G	X	110928268	110928268	A	G	ALG13	c.320A>G	NM_001099922.2	NP_001093392.1:p.(Asn107Ser)	NC_000023.10:g.110928268A>G	(Likely) pathogenic	1 lab	e80adb4d52
6:41533592 FOXP4 G>A	6	41533592	41533592	G	A	FOXP4	c.94G>A	NM_001012426.2	NP_001012426.1:p.(Gly32Ser)	NC_000006.11:g.41533592G>A	VUS	1 lab	154e1ed3f2
12:52183102 SCN8A T>C	12	52183102	52183102	T	C	SCN8A	c.4319T>C	NM_014191.3	NP_055006.1:p.(Met1440Thr)	NC_000012.11:g.52183102T>C	VUS	1 lab	e80cf9b483
12:7188474 C1R C>T	12	7188474	7188474	C	T	C1R	c.1522G>A	NM_001354346.2	NP_001341275.1:p.(Asp508Asn)	NC_000012.11:g.7188474C>T	(Likely) benign	1 lab	16e5d4243c
16:86602216 FOXC2 T>G	16	86602216	86602216	T	G	FOXC2	c.1275T>G	NM_005251.2	NP_005242.1:p.(Tyr425Ter)	NC_000016.9:g.86602216T>G	VUS	1 lab	e813d1e5f4
2:234229480 SAG C>T	2	234229480	234229480	C	T	SAG	c.375+11C>T	NM_000541.4	NP_000532.2:p.?	NC_000002.11:g.234229480C>T	(Likely) benign	1 lab	e81409f630
3:9515106 SETD5 A>T	3	9515106	9515106	A	T	SETD5	c.3382A>T	NM_001080517.3	NP_001073986.1:p.(Lys1128Ter)	NC_000003.11:g.9515106A>T	(Likely) pathogenic	1 lab	e81421f5fa
13:52548845 ATP7B C>A	13	52548845	52548845	C	A	ATP7B	c.511G>T	NM_000053.4	NP_000044.2:p.(Val171Leu)	NC_000013.10:g.52548845C>A	VUS	1 lab	154e2e4258
8:10470148 RP1L1 G>A	8	10470148	10470148	G	A	RP1L1	c.1460C>T	NM_178857.5	NP_849188.4:p.(Ala487Val)	NC_000008.10:g.10470148G>A	(Likely) benign	1 lab	e8166a5508
9:135801097 TSC1 CA>C	9	135801097	135801098	CA	C	TSC1	c.239del	NM_000368.5	NP_000359.1:p.(Val80GlyfsTer18)	NC_000009.11:g.135801098del	(Likely) pathogenic	1 lab	e81729237e
7:21726851 DNAH11 G>C	7	21726851	21726851	G	C	DNAH11	c.5756G>C	NM_001277115.2	NP_001264044.1:p.(Cys1919Ser)	NC_000007.13:g.21726851G>C	VUS	1 lab	e817b8117a
7:151329470 PRKAG2 G>A	7	151329470	151329470	G	A	PRKAG2	c.685-246C>T	NM_016203.4	NP_057287.2:p.?	NC_000007.13:g.151329470G>A	VUS	1 lab	155195fa3e
11:118390744 KMT2A T>TG	11	118390744	118390745	T	TG	KMT2A	c.11395dup	NM_001197104.2	NP_001184033.1:p.(Glu3799GlyfsTer16)	NC_000011.9:g.118390745dup	(Likely) pathogenic	1 lab	e817bac6ae
5:176678857 NSD1 A>C	5	176678857	176678857	A	C	NSD1	c.4765+3A>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176678857A>C	VUS	1 lab	1722ca0f65
13:32937597 BRCA2 T>C	13	32937597	32937597	T	C	BRCA2	c.8258T>C	NM_000059.3	NP_000050.2:p.(Leu2753Pro)	NC_000013.10:g.32937597T>C	VUS	1 lab	e81822766d
4:68703912 TMPRSS11D T>C	4	68703912	68703912	T	C	TMPRSS11D	c.453A>G	NM_004262.2	NP_004253.1:p.(Ile151Met)	NC_000004.11:g.68703912T>C	VUS	1 lab	e81a05fb20
11:3039964 LOC126861115 C>T	11	3039964	3039964	C	T	LOC126861115				NC_000011.9:g.3039964C>T	VUS	1 lab	e81b6c07c3
12:6128560 VWF G>A	12	6128560	6128560	G	A	VWF	c.4024C>T	NM_000552.3	NP_000543.2:p.(Arg1342Cys)	NC_000012.11:g.6128560G>A	VUS	1 lab	e81b866a5b
1:152283811 FLG G>T	1	152283811	152283811	G	T	FLG	c.3551C>A	NM_002016.1	NP_002007.1:p.(Ser1184Ter)	NC_000001.10:g.152283811G>T	(Likely) pathogenic	1 lab	e81d869c77
16:732451 STUB1 G>A	16	732451	732451	G	A	STUB1	c.874G>A	NM_005861.2	NP_005852.2:p.(Ala292Thr)	NC_000016.9:g.732451G>A	VUS	1 lab	e8208f87fc
17:59557282 TBX4 G>T	17	59557282	59557282	G	T	TBX4	c.743G>T	NM_018488.3	NP_060958.2:p.(Gly248Val)	NC_000017.10:g.59557282G>T	(Likely) pathogenic	1 lab	e822121169
12:6103323 VWF G>T	12	6103323	6103323	G	T	VWF	c.6303C>A	NM_000552.3	NP_000543.2:p.(Gly2101=)	NC_000012.11:g.6103323G>T	(Likely) benign	1 lab	e8232b9b26
11:120972161 TECTA A>G	11	120972161	120972161	A	G	TECTA				NC_000011.9:g.120972161A>G	(Likely) benign	1 lab	e823368a11
14:95554142 DICER1 T>C	14	95554142	95554142	T	C	DICER1	c.*2693A>G	NM_177438.3	NP_803187.1:p.?	NC_000014.8:g.95554142T>C	(Likely) benign	1 lab	e82b205aaf
14:51094875 ATL1 C>T	14	51094875	51094875	C	T	ATL1	c.1246C>T	NM_015915.4	NP_056999.2:p.(Arg416Cys)	NC_000014.8:g.51094875C>T	(Likely) pathogenic	1 lab	e82bdc7771
1:169521849 F5 T>C	1	169521849	169521849	T	C	F5	c.1242A>G	NM_000130.4	NP_000121.2:p.(Lys414=)	NC_000001.10:g.169521849T>C	(Likely) benign	1 lab	e82c04b2a1
10:73498354 CDH23 C>T	10	73498354	73498354	C	T	CDH23	c.4309C>T	NM_022124.5	NP_071407.4:p.(Arg1437Ter)	NC_000010.10:g.73498354C>T	(Likely) pathogenic	1 lab	e831e7ab42
19:50367486 PNKP A>T	19	50367486	50367486	A	T	PNKP	c.586T>A	NM_007254.4	NP_009185.2:p.(Tyr196Asn)	NC_000019.9:g.50367486A>T	(Likely) benign	1 lab	16e99b1f13
22:51117290 MISSING G>A	22	51117290	51117290	G	A	MISSING				NC_000022.10:g.51117290G>A	VUS	1 lab	e8468c992b
10:101480792 COX15 G>T	10	101480792	101480792	G	T	COX15	c.784C>A	NM_078470.5	NP_510870.1:p.(Arg262=)	NC_000010.10:g.101480792G>T	(Likely) benign	1 lab	e84781ad67
2:39241933 SOS1 T>C	2	39241933	39241933	T	C	SOS1	c.1913A>G	NM_005633.3	NP_005624.2:p.(Gln638Arg)	NC_000002.11:g.39241933T>C	VUS	1 lab	e84e6559ec
2:105473081 POU3F3 G>C	2	105473081	105473081	G	C	POU3F3	c.1113G>C	NM_006236.3	NP_006227.1:p.(Lys371Asn)	NC_000002.11:g.105473081G>C	(Likely) pathogenic	1 lab	e84f2975e6
21:46888417 COL18A1 T>A	21	46888417	46888417	T	A	COL18A1	c.368T>A	NM_130445.2	NP_569712.2:p.(Val123Glu)	NC_000021.8:g.46888417T>A	VUS	1 lab	e84f71bc90
16:28912162 ATP2A1 C>A	16	28912162	28912162	C	A	ATP2A1	c.2025C>A	NM_004320.4	NP_004311.1:p.(Cys675Ter)	NC_000016.9:g.28912162C>A	(Likely) pathogenic	1 lab	e8548a7307
3:37083824 MLH1 T>A	3	37083824	37083824	T	A	MLH1	c.1731+2T>A	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37083824T>A	(Likely) pathogenic	1 lab	e857d449c5
1:160109468 ATP1A2 C>T	1	160109468	160109468	C	T	ATP1A2	c.2879C>T	NM_000702.3	NP_000693.1:p.(Ala960Val)	NC_000001.10:g.160109468C>T	VUS	1 lab	e857e62f7f
16:56868649 NUP93 G>A	16	56868649	56868649	G	A	NUP93	c.1741G>A	NM_014669.5	NP_055484.3:p.(Asp581Asn)	NC_000016.9:g.56868649G>A	VUS	1 lab	e85850ae3c
8:72111606 EYA1 A>C	8	72111606	72111606	A	C	EYA1	c.1748T>G	NM_172058.2	NP_742055.1:p.(Leu583Arg)	NC_000008.10:g.72111606A>C	(Likely) pathogenic	1 lab	e85bdc4b7a
2:48026138 MSH6 C>T	2	48026138	48026138	C	T	MSH6	c.1016C>T	NM_000179.2	NP_000170.1:p.(Ala339Val)	NC_000002.11:g.48026138C>T	(Likely) benign	1 lab	e85d79b0e4
2:47709918 MSH2 C>T	2	47709918	47709918	C	T	MSH2	c.2635C>T	NM_000251.2	NP_000242.1:p.(Gln879Ter)	NC_000002.11:g.47709918C>T	(Likely) pathogenic	1 lab	e85f608c5e
20:32000458 SNTA1 C>T	20	32000458	32000458	C	T	SNTA1	c.832G>A	NM_003098.2	NP_003089.1:p.(Glu278Lys)	NC_000020.10:g.32000458C>T	VUS	1 lab	e85f6ddabe
12:2224546 CACNA1C G>A	12	2224546	2224546	G	A	CACNA1C	c.206G>A	NM_199460.3	NP_955630.3:p.(Gly69Asp)	NC_000012.11:g.2224546G>A	VUS	1 lab	e86617d56d
6:7577261 DSP G>A	6	7577261	7577261	G	A	DSP	c.2863G>A	NM_004415.3	NP_004406.2:p.(Ala955Thr)	NC_000006.11:g.7577261G>A	(Likely) benign	1 lab	e86c44c6d3
13:39433813 FREM2 A>G	13	39433813	39433813	A	G	FREM2	c.7519+86A>G	NM_207361.6	NP_997244.4:p.?	NC_000013.10:g.39433813A>G	(Likely) benign	1 lab	16eb4bd56a
16:16276279 ABCC6 A>G	16	16276279	16276279	A	G	ABCC6	c.2237T>C	NM_001171.6	NP_001162.5:p.(Ile746Thr)	NC_000016.9:g.16276279A>G	VUS	1 lab	e8709f6492
12:133253146 POLE T>C	12	133253146	133253146	T	C	POLE	c.895A>G	NM_006231.2	NP_006222.2:p.(Met299Val)	NC_000012.11:g.133253146T>C	VUS	1 lab	e8794e85ce
3:30686424 TGFBR2 A>C	3	30686424	30686424	A	C	TGFBR2	c.338+17A>C	NM_001024847.2	NP_001020018.1:p.?	NC_000003.11:g.30686424A>C	(Likely) benign	1 lab	16ec3da517
7:107344789 SLC26A4 T>C	7	107344789	107344789	T	C	SLC26A4	c.2048T>C	NM_000441.1	NP_000432.1:p.(Phe683Ser)	NC_000007.13:g.107344789T>C	(Likely) pathogenic	1 lab	e87db6d608
X:99657658 PCDH19 C>T	X	99657658	99657658	C	T	PCDH19	c.2480G>A	NM_001184880.2	NP_001171809.1:p.(Arg827His)	NC_000023.10:g.99657658C>T	VUS	1 lab	155aa2179c
20:31022839 ASXL1 T>G	20	31022839	31022839	T	G	ASXL1	c.2324T>G	NM_015338.5	NP_056153.2:p.(Leu775Ter)	NC_000020.10:g.31022839T>G	(Likely) pathogenic	1 lab	e88020ce40
8:143695268 MISSING C>T	8	143695268	143695268	C	T	MISSING				NC_000008.10:g.143695268C>T	VUS	1 lab	e882ee6c9b
4:103514679 NFKB1 G>T	4	103514679	103514679	G	T	NFKB1	c.1164G>T	NM_003998.4	NP_003989.2:p.(Met388Ile)	NC_000004.11:g.103514679G>T	VUS	1 lab	155bab6a5d
1:55465047 BSND G>A	1	55465047	55465047	G	A	BSND	c.177+11G>A	NM_057176.2	NP_476517.1:p.?	NC_000001.10:g.55465047G>A	(Likely) benign	1 lab	e88466e799
4:6304112 WFS1 G>A	4	6304112	6304112	G	A	WFS1	c.2590G>A	NM_006005.3	NP_005996.2:p.(Glu864Lys)	NC_000004.11:g.6304112G>A	(Likely) pathogenic	1 lab	e8850aef28
8:100396522 VPS13B C>T	8	100396522	100396522	C	T	VPS13B	c.2911C>T	NM_017890.4	NP_060360.3:p.(Arg971Ter)	NC_000008.10:g.100396522C>T	(Likely) pathogenic	1 lab	e885c0d0c3
11:22239621 ANO5 CT>C	11	22239621	22239628	CT	C	ANO5	c.139-164del	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22239628del	(Likely) benign	1 lab	16f0c6a48f
X:21772363 SMPX C>G	X	21772363	21772363	C	G	SMPX				NC_000023.10:g.21772363C>G	(Likely) pathogenic	1 lab	e888964041
7:6027063 PMS2 T>A	7	6027063	6027063	T	A	PMS2	c.1333A>T	NM_000535.7	NP_000526.2:p.(Ser445Cys)	NC_000007.13:g.6027063T>A	(Likely) benign	1 lab	e889aec671
11:120996098 TECTA A>T	11	120996098	120996098	A	T	TECTA				NC_000011.9:g.120996098A>T	VUS	1 lab	e88d5dc522
11:61723505 BEST1 A>G	11	61723505	61723505	A	G	BEST1	c.481+82A>G	NM_004183.3	NP_004174.1:p.?	NC_000011.9:g.61723505A>G	VUS	1 lab	e88de8ab8d
6:73902374 KCNQ5 A>G	6	73902374	73902374	A	G	KCNQ5	c.1853A>G	NM_001160133.1	NP_001153605.1:p.(Asp618Gly)	NC_000006.11:g.73902374A>G	(Likely) pathogenic	1 lab	e89306f876
X:70347806 MED12 G>A	X	70347806	70347806	G	A	MED12	c.3045G>A	NM_005120.2	NP_005111.2:p.(Met1015Ile)	NC_000023.10:g.70347806G>A	VUS	1 lab	e8937da20f
13:113803586 F10 G>A	13	113803586	113803586	G	A	F10	c.1222G>A	NM_000504.3	NP_000495.1:p.(Asp408Asn)	NC_000013.10:g.113803586G>A	VUS	1 lab	e893ad4304
17:8132639 CTC1 CA>C	17	8132639	8132641	CA	C	CTC1	c.3136del	NM_025099.5	NP_079375.3:p.(Cys1046ValfsTer23)	NC_000017.10:g.8132641del	(Likely) pathogenic	1 lab	e8951356b0
5:14693034 OTULIN G>A	5	14693034	14693034	G	A	OTULIN	c.936G>A	NM_138348.6	NP_612357.4:p.(Thr312=)	NC_000005.9:g.14693034G>A	(Likely) benign	1 lab	16f2765150
16:31500217 SLC5A2 A>G	16	31500217	31500217	A	G	SLC5A2	c.1297A>G	NM_003041.3	NP_003032.1:p.(Ile433Val)	NC_000016.9:g.31500217A>G	VUS	1 lab	e8986dc7b0
17:78156590 CARD14 G>A	17	78156590	78156590	G	A	CARD14	c.349+1G>A	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78156590G>A	(Likely) pathogenic	1 lab	e89ca4f778
18:19751710 GATA6 CGT>C	18	19751710	19751712	CGT	C	GATA6	c.606_607del	NM_005257.6	NP_005248.2:p.(Tyr203ProfsTer96)	NC_000018.9:g.19751711_19751712del	(Likely) pathogenic	1 lab	155c8834c1
X:73811444 RLIM G>A	X	73811444	73811444	G	A	RLIM	c.1706C>T	NM_183353.2	NP_899196.1:p.(Thr569Ile)	NC_000023.10:g.73811444G>A	VUS	1 lab	e8a17c6481
4:187197406 F11 C>G	4	187197406	187197406	C	G	F11	c.617C>G	NM_000128.3	NP_000119.1:p.(Pro206Arg)	NC_000004.11:g.187197406C>G	VUS	1 lab	e8a4f0abaf
16:56903668 SLC12A3 C>T	16	56903668	56903668	C	T	SLC12A3	c.533C>T	NM_000339.2	NP_000330.2:p.(Ser178Leu)	NC_000016.9:g.56903668C>T	(Likely) pathogenic	1 lab	e8a51a9908
19:13373585 CACNA1A C>T	19	13373585	13373585	C	T	CACNA1A	c.4052G>A	NM_001127222.1	NP_001120694.1:p.(Arg1351Gln)	NC_000019.9:g.13373585C>T	(Likely) pathogenic	1 lab	e8a5641ab4
6:31637286 CSNK2B G>A	6	31637286	31637286	G	A	CSNK2B	c.557+1G>A	NM_001320.6	NP_001311.3:p.?	NC_000006.11:g.31637286G>A	(Likely) pathogenic	1 lab	e8a644f69c
1:21889651 ALPL G>A	1	21889651	21889651	G	A	ALPL	c.346G>A	NM_000478.5	NP_000469.3:p.(Ala116Thr)	NC_000001.10:g.21889651G>A	(Likely) pathogenic	1 lab	e8ad9a7bff
3:124951625 ZNF148 G>A	3	124951625	124951625	G	A	ZNF148	c.1945C>T	NM_021964.3	NP_068799.2:p.(Gln649Ter)	NC_000003.11:g.124951625G>A	VUS	1 lab	e8ae5c9ffa
3:38627303 SCN5A A>G	3	38627303	38627303	A	G	SCN5A	c.2666T>C	NM_000335.5	NP_000326.2:p.(Leu889Pro)	NC_000003.11:g.38627303A>G	VUS	1 lab	e8b0afcc30
10:121431832 BAG3 C>T	10	121431832	121431832	C	T	BAG3	c.573C>T	NM_004281.3	NP_004272.2:p.(Ser191=)	NC_000010.10:g.121431832C>T	(Likely) benign	1 lab	e8b0da2d76
12:6128633 VWF G>A	12	6128633	6128633	G	A	VWF	c.3951C>T	NM_000552.3	NP_000543.2:p.(Ala1317=)	NC_000012.11:g.6128633G>A	(Likely) benign	1 lab	e8b0fae461
2:39222319 SOS1 A>T	2	39222319	39222319	A	T	SOS1	c.3291T>A	NM_005633.4	NP_005624.2:p.(Ser1097Arg)	NC_000002.11:g.39222319A>T	VUS	1 lab	e8b3ba6ec0
17:36522190 SOCS7 C>T	17	36522190	36522190	C	T	SOCS7	c.1273C>T	NM_014598.4	NP_055413.2:p.(Pro425Ser)	NC_000017.10:g.36522190C>T	VUS	1 lab	155d5ac4d9
2:179432264 TTN ATT>A	2	179432264	179432268	ATT	A	TTN	c.78593_78594del	NM_001267550.2	NP_001254479.2:p.(Lys26198IlefsTer16)	NC_000002.11:g.179432267_179432268del	(Likely) pathogenic	1 lab	e8bc4195db
13:31835217 B3GLCT CAAGT>C	13	31835217	31835224	CAAGT	C	B3GLCT	c.596+2_596+5del	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31835221_31835224del	(Likely) pathogenic	1 lab	155f9ab321
2:238436105 MLPH C>T	2	238436105	238436105	C	T	MLPH	c.966C>T	NM_024101.5	NP_077006.1:p.(His322=)	NC_000002.11:g.238436105C>T	(Likely) benign	1 lab	16fbc2dc2a
12:100796512 SLC17A8 G>C	12	100796512	100796512	G	C	SLC17A8	c.1042G>C	NM_139319.3	NP_647480.1:p.(Ala348Pro)	NC_000012.11:g.100796512G>C	(Likely) benign	1 lab	e8bfd69fb6
1:196759195 CFHR3 C>T	1	196759195	196759195	C	T	CFHR3	c.634C>T	NM_021023.5	NP_066303.2:p.(Pro212Ser)	NC_000001.10:g.196759195C>T	(Likely) benign	1 lab	16ff5179a3
19:42777505 CIC C>T	19	42777505	42777505	C	T	CIC	c.1570C>T	NM_001386298.1	NP_001373227.1:p.(His524Tyr)	NC_000019.9:g.42777505C>T	VUS	1 lab	e8c2f1ee41
2:145156351 ZEB2 G>C	2	145156351	145156351	G	C	ZEB2	c.2403C>G	NM_014795.3	NP_055610.1:p.(Tyr801Ter)	NC_000002.11:g.145156351G>C	(Likely) pathogenic	1 lab	e8c448b2d9
16:3293449 MEFV T>G	16	3293449	3293449	T	G	MEFV	c.2038A>C	NM_000243.2	NP_000234.1:p.(Met680Leu)	NC_000016.9:g.3293449T>G	(Likely) pathogenic	1 lab	170067f541
14:23884969 MYH7 G>A	14	23884969	23884969	G	A	MYH7	c.5026C>T	NM_000257.3	NP_000248.2:p.(Arg1676Trp)	NC_000014.8:g.23884969G>A	VUS	1 lab	e8cd0c3737
1:165182925 LMX1A G>A	1	165182925	165182925	G	A	LMX1A	c.622C>T	NM_177398.4	NP_796372.1:p.(Arg208Ter)	NC_000001.10:g.165182925G>A	(Likely) pathogenic	1 lab	e8cd7c55ae
3:150690378 CLRN1 A>C	3	150690378	150690378	A	C	CLRN1	c.118T>G	NM_174878.2	NP_777367.1:p.(Cys40Gly)	NC_000003.11:g.150690378A>C	(Likely) pathogenic	1 lab	e8d0a39867
10:26285464 MYO3A A>C	10	26285464	26285464	A	C	MYO3A				NC_000010.10:g.26285464A>C	VUS	1 lab	e8d19940e6
16:20359763 UMOD C>G	16	20359763	20359763	C	G	UMOD	c.860G>C	NM_003361.3	NP_003352.2:p.(Cys287Ser)	NC_000016.9:g.20359763C>G	VUS	1 lab	e8d2e78b8b
X:122460038 GRIA3 G>T	X	122460038	122460038	G	T	GRIA3	c.670G>T	NM_000828.4	NP_000819.3:p.(Glu224Ter)	NC_000023.10:g.122460038G>T	(Likely) pathogenic	1 lab	e8d7dab871
X:153295888 MECP2 G>A	X	153295888	153295888	G	A	MECP2	c.1391C>T	NM_004992.4	NP_004983.1:p.(Ser464Phe)	NC_000023.10:g.153295888G>A	VUS	1 lab	1561c5ad9f
X:149828910 MTM1 C>T	X	149828910	149828910	C	T	MTM1	c.1420C>T	NM_000252.3	NP_000243.1:p.(Arg474Ter)	NC_000023.10:g.149828910C>T	(Likely) pathogenic	1 lab	e8da1fe807
17:62476429 POLG2 G>A	17	62476429	62476429	G	A	POLG2	c.1269C>T	NM_007215.3	NP_009146.2:p.(Ser423=)	NC_000017.10:g.62476429G>A	(Likely) benign	1 lab	e8da2d310a
8:21973884 HR AG>A	8	21973884	21973886	AG	A	HR	c.3435del	NM_005144.4	NP_005135.2:p.(Ser1146LeufsTer33)	NC_000008.10:g.21973886del	(Likely) pathogenic	1 lab	e8dac8086f
17:39928082 JUP G>C	17	39928082	39928082	G	C	JUP	c.25C>G	NM_002230.4	NP_002221.1:p.(Gln9Glu)	NC_000017.10:g.39928082G>C	VUS	1 lab	156332646d
16:23647395 PALB2 G>C	16	23647395	23647395	G	C	PALB2	c.472C>G	NM_024675.3	NP_078951.2:p.(Gln158Glu)	NC_000016.9:g.23647395G>C	(Likely) benign	1 lab	e8dbb92353
13:32913683 BRCA2 C>T	13	32913683	32913683	C	T	BRCA2	c.5191C>T	NM_000059.3	NP_000050.2:p.(His1731Tyr)	NC_000013.10:g.32913683C>T	VUS	1 lab	e8ddc67d61
1:215940022 USH2A C>T	1	215940022	215940022	C	T	USH2A	c.11047+1G>A	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.215940022C>T	(Likely) pathogenic	1 lab	e8ded95ef6
2:167168015 SCN9A G>A	2	167168015	167168015	G	A	SCN9A	c.252C>T	NM_002977.3	NP_002968.1:p.(Asp84=)	NC_000002.11:g.167168015G>A	(Likely) benign	1 lab	e8df443dc7
10:69933928 MYPN T>A	10	69933928	69933928	T	A	MYPN	c.2079T>A	NM_032578.3	NP_115967.2:p.(Thr693=)	NC_000010.10:g.69933928T>A	(Likely) benign	1 lab	e8e2481895
1:216144049 USH2A C>T	1	216144049	216144049	C	T	USH2A	c.6875G>A	NM_206933.2	NP_996816.2:p.(Arg2292His)	NC_000001.10:g.216144049C>T	(Likely) benign	1 lab	e8e7ff7ec2
10:89653829 PTEN G>T	10	89653829	89653829	G	T	PTEN	c.127G>T	NM_000314.4	NP_000305.3:p.(Glu43Ter)	NC_000010.10:g.89653829G>T	(Likely) pathogenic	1 lab	e8e88dd515
6:64472507 EYS A>C	6	64472507	64472507	A	C	EYS	c.7918T>G	NM_001142800.1	NP_001136272.1:p.(Trp2640Gly)	NC_000006.11:g.64472507A>C	VUS	1 lab	e8e9616f02
17:42992596 GFAP C>T	17	42992596	42992596	C	T	GFAP	c.259G>A	NM_002055.4	NP_002046.1:p.(Val87Ile)	NC_000017.10:g.42992596C>T	VUS	1 lab	e8ea338b1d
6:79668189 PHIP T>TA	6	79668189	79668190	T	TA	PHIP	c.3782+2dup	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79668190dup	(Likely) pathogenic	1 lab	e8ec8a7334
X:44929505 KDM6A G>T	X	44929505	44929505	G	T	KDM6A	c.2761G>T	NM_001291415.2	NP_001278344.1:p.(Asp921Tyr)	NC_000023.10:g.44929505G>T	VUS	1 lab	15652a0874
1:156085055 LMNA C>T	1	156085055	156085055	C	T	LMNA	c.346C>T	NM_170708.3	NP_733822.1:p.(Leu116=)	NC_000001.10:g.156085055C>T	(Likely) benign	1 lab	e8f5285436
16:1509140 CLCN7 C>T	16	1509140	1509140	C	T	CLCN7	c.643G>A	NM_001287.5	NP_001278.1:p.(Gly215Arg)	NC_000016.9:g.1509140C>T	(Likely) pathogenic	1 lab	e8f590bf6b
12:6127641 VWF G>A	12	6127641	6127641	G	A	VWF	c.4943C>T	NM_000552.5	NP_000543.3:p.(Pro1648Leu)	NC_000012.11:g.6127641G>A	VUS	1 lab	e8f5a0492d
7:151372675 PRKAG2 T>G	7	151372675	151372675	T	G	PRKAG2	c.515A>C	NM_016203.3	NP_057287.2:p.(Gln172Pro)	NC_000007.13:g.151372675T>G	(Likely) benign	1 lab	e8f6017975
7:97498323 ASNS C>T	7	97498323	97498323	C	T	ASNS	c.146G>A	NM_001673.5	NP_001664.3:p.(Arg49Gln)	NC_000007.13:g.97498323C>T	VUS	1 lab	e8fa31768a
1:152280788 FLG T>G	1	152280788	152280788	T	G	FLG	c.6574A>C	NM_002016.1	NP_002007.1:p.(Lys2192Gln)	NC_000001.10:g.152280788T>G	(Likely) benign	1 lab	e8fd073213
8:10469840 RP1L1 G>A	8	10469840	10469840	G	A	RP1L1	c.1768C>T	NM_178857.5	NP_849188.4:p.(Gln590Ter)	NC_000008.10:g.10469840G>A	(Likely) benign	1 lab	e9022b3aab
22:38121636 TRIOBP C>T	22	38121636	38121636	C	T	TRIOBP	c.3073C>T	NM_001039141.3	NP_001034230.1:p.(Arg1025Ter)	NC_000022.10:g.38121636C>T	(Likely) pathogenic	1 lab	e902734d73
2:167266777 SCN7A T>A	2	167266777	167266777	T	A	SCN7A	c.3664A>T	NM_002976.4	NP_002967.2:p.(Lys1222Ter)	NC_000002.11:g.167266777T>A	VUS	1 lab	e904d391b1
X:70587360 TAF1 G>C	X	70587360	70587360	G	C	TAF1	c.192G>C	NM_004606.4	NP_004597.2:p.(Lys64Asn)	NC_000023.10:g.70587360G>C	VUS	1 lab	e907ad14e5
17:56809865 RAD51C C>T	17	56809865	56809865	C	T	RAD51C	c.986C>T	NM_058216.3	NP_478123.1:p.(Ser329Leu)	NC_000017.10:g.56809865C>T	VUS	1 lab	e90c2e4c00
1:152281039 FLG G>A	1	152281039	152281039	G	A	FLG	c.6323C>T	NM_002016.1	NP_002007.1:p.(Ala2108Val)	NC_000001.10:g.152281039G>A	(Likely) benign	1 lab	e90d7047e8
3:37090393 MLH1 A>T	3	37090393	37090393	A	T	MLH1	c.1990-2A>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37090393A>T	(Likely) pathogenic	1 lab	e90f397a82
5:149499073 PDGFRB G>A	5	149499073	149499073	G	A	PDGFRB	c.2755C>T	NM_002609.4	NP_002600.1:p.(Arg919Trp)	NC_000005.9:g.149499073G>A	VUS	1 lab	1567f7d23f
3:9976084 CRELD1 T>G	3	9976084	9976084	T	G	CRELD1	c.-19-20T>G	NM_001031717.3	NP_001026887.1:p.?	NC_000003.11:g.9976084T>G	(Likely) benign	1 lab	e921193514
4:6292963 WFS1 C>T	4	6292963	6292963	C	T	WFS1	c.500C>T	NM_006005.3	NP_005996.2:p.(Ser167Phe)	NC_000004.11:g.6292963C>T	VUS	1 lab	e9212bb967
3:50413108 CACNA2D2 T>C	3	50413108	50413108	T	C	CACNA2D2	c.1874A>G	NM_006030.4	NP_006021.2:p.(Tyr625Cys)	NC_000003.11:g.50413108T>C	VUS	1 lab	156867970d
6:105244559 HACE1 T>C	6	105244559	105244559	T	C	HACE1	c.787A>G	NM_020771.4	NP_065822.2:p.(Thr263Ala)	NC_000006.11:g.105244559T>C	VUS	1 lab	e921e153c9
3:50684579 MAPKAPK3 C>T	3	50684579	50684579	C	T	MAPKAPK3	c.941C>T	NM_004635.4	NP_004626.1:p.(Pro314Leu)	NC_000003.11:g.50684579C>T	VUS	1 lab	e921e38864
17:41246047 BRCA1 T>G	17	41246047	41246047	T	G	BRCA1	c.1501A>C	NM_007294.4	NP_009225.1:p.(Lys501Gln)	NC_000017.10:g.41246047T>G	(Likely) benign	1 lab	e92302d12e
X:154065907 F8 C>T	X	154065907	154065907	C	T	F8	c.7021G>A	NM_000132.3	NP_000123.1:p.(Glu2341Lys)	NC_000023.10:g.154065907C>T	(Likely) pathogenic	1 lab	1702cdb5e3
10:72201532 NODAL A>G	10	72201532	72201532	A	G	NODAL				NC_000010.10:g.72201532A>G	(Likely) benign	1 lab	e9282804f9
22:41919868 ACO2 G>A	22	41919868	41919868	G	A	ACO2	c.1405G>A	NM_001098.3	NP_001089.1:p.(Val469Ile)	NC_000022.10:g.41919868G>A	VUS	1 lab	e9289c45d9
3:121981227 CASR T>A	3	121981227	121981227	T	A	CASR	c.1345T>A	NM_000388.3	NP_000379.2:p.(Cys449Ser)	NC_000003.11:g.121981227T>A	(Likely) pathogenic	1 lab	e928d9fb25
9:140040294 GRIN1 C>A	9	140040294	140040294	C	A	GRIN1	c.510C>A	NM_007327.3	NP_015566.1:p.(Asp170Glu)	NC_000009.11:g.140040294C>A	(Likely) benign	1 lab	e92f7a43b3
X:131233494 FRMD7 AC>A	X	131233494	131233495	AC	A	FRMD7	c.205+1del	NM_194277.3	NP_919253.1:p.?	NC_000023.10:g.131233495del	(Likely) pathogenic	1 lab	e9305ed1b8
14:23866396 MYH6 T>C	14	23866396	23866396	T	C	MYH6	c.2033A>G	NM_002471.4	NP_002462.2:p.(Asn678Ser)	NC_000014.8:g.23866396T>C	(Likely) pathogenic	1 lab	e93234c02d
5:136993885 KLHL3 G>A	5	136993885	136993885	G	A	KLHL3	c.838C>T	NM_017415.3	NP_059111.2:p.(Leu280=)	NC_000005.9:g.136993885G>A	(Likely) benign	1 lab	170379b6e4
17:59761101 BRIP1 G>A	17	59761101	59761101	G	A	BRIP1	c.3306C>T	NM_032043.3	NP_114432.2:p.(Asp1102=)	NC_000017.10:g.59761101G>A	(Likely) benign	1 lab	e9340f0fb2
1:152287232 FLG A>C	1	152287232	152287232	A	C	FLG	c.139-9T>G	NM_002016.2	NP_002007.1:p.?	NC_000001.10:g.152287232A>C	VUS	1 lab	03af926a48
13:32954093 BRCA2 T>C	13	32954093	32954093	T	C	BRCA2	c.9117+43T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954093T>C	(Likely) benign	1 lab	e935940d22
16:2147419 PKD1 G>A	16	2147419	2147419	G	A	PKD1	c.10306C>T	NM_001009944.2	NP_001009944.2:p.(Gln3436Ter)	NC_000016.9:g.2147419G>A	(Likely) pathogenic	1 lab	170537901f
X:32509592 DMD C>T	X	32509592	32509592	C	T	DMD	c.2424G>A	NM_004006.2	NP_003997.1:p.(Leu808=)	NC_000023.10:g.32509592C>T	(Likely) benign	1 lab	e94b55cb2e
17:62019300 SCN4A G>T	17	62019300	62019300	G	T	SCN4A	c.4342C>A	NM_000334.4	NP_000325.4:p.(Arg1448Ser)	NC_000017.10:g.62019300G>T	(Likely) pathogenic	1 lab	e936449174
12:21981892 ABCC9 C>T	12	21981892	21981892	C	T	ABCC9	c.3669G>A	NM_005691.3	NP_005682.2:p.(Thr1223=)	NC_000012.11:g.21981892C>T	(Likely) benign	1 lab	e93a96474d
5:135396581 TGFBI C>CAAA	5	135396581	135396584	C	CAAA	TGFBI	c.1863_1865dup	NM_000358.2	NP_000349.1:p.(Thr621_Asn622insLys)	NC_000005.9:g.135396582_135396584dup	VUS	1 lab	e93ad957b3
14:95572036 DICER1 C>T	14	95572036	95572036	C	T	DICER1	c.3072G>A	NM_177438.2	NP_803187.1:p.(Trp1024Ter)	NC_000014.8:g.95572036C>T	(Likely) pathogenic	1 lab	e93b4d225d
7:5751397 RNF216 G>A	7	5751397	5751397	G	A	RNF216	c.2056C>T	NM_207111.3	NP_996994.1:p.(Arg686Ter)	NC_000007.13:g.5751397G>A	(Likely) pathogenic	1 lab	e93b4ffd1e
X:70387434 NLGN3 G>A	X	70387434	70387434	G	A	NLGN3	c.1487G>A	NM_181303.2	NP_851820.1:p.(Arg496His)	NC_000023.10:g.70387434G>A	VUS	1 lab	e93d1e50c0
10:89720876 PTEN G>A	10	89720876	89720876	G	A	PTEN	c.1026+1G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89720876G>A	(Likely) pathogenic	1 lab	e93deb412b
X:122561806 MISSING G>A	X	122561806	122561806	G	A	MISSING				NC_000023.10:g.122561806G>A	(Likely) pathogenic	1 lab	e93e28444f
12:1910208 CACNA2D4 C>T	12	1910208	1910208	C	T	CACNA2D4	c.2868+1G>A	NM_172364.5	NP_758952.4:p.?	NC_000012.11:g.1910208C>T	(Likely) pathogenic	1 lab	e93f0c1b3b
16:19883515 GPRC5B G>T	16	19883515	19883515	G	T	GPRC5B	c.653C>A	NM_016235.3	NP_057319.1:p.(Ala218Asp)	NC_000016.9:g.19883515G>T	VUS	1 lab	156f0b8947
19:18278096 PIK3R2 G>T	19	18278096	18278096	G	T	PIK3R2	c.1716G>T	NM_005027.4	NP_005018.2:p.(Lys572Asn)	NC_000019.9:g.18278096G>T	(Likely) benign	1 lab	e941227521
13:20763498 GJB2 G>A	13	20763498	20763498	G	A	GJB2	c.223C>T	NM_004004.5	NP_003995.2:p.(Arg75Trp)	NC_000013.10:g.20763498G>A	(Likely) pathogenic	1 lab	e941530786
X:110439692 PAK3 C>T	X	110439692	110439692	C	T	PAK3	c.1339C>T	NM_001128168.1	NP_001121640.1:p.(Gln447Ter)	NC_000023.10:g.110439692C>T	(Likely) pathogenic	1 lab	e94454c343
11:33743938 CD59 G>A	11	33743938	33743938	G	A	CD59	c.54C>T	NM_000611.6	NP_000602.1:p.(Val18=)	NC_000011.9:g.33743938G>A	(Likely) benign	1 lab	1704b90c02
13:32937309 BRCA2 C>T	13	32937309	32937309	C	T	BRCA2	c.7977-7C>T	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32937309C>T	(Likely) benign	1 lab	e94c77b149
20:61467832 COL9A3 G>A	20	61467832	61467832	G	A	COL9A3				NC_000020.10:g.61467832G>A	(Likely) benign	1 lab	e94d13a460
5:112174005 APC G>C	5	112174005	112174005	G	C	APC	c.2714G>C	NM_000038.5	NP_000029.2:p.(Ser905Thr)	NC_000005.9:g.112174005G>C	VUS	1 lab	e94e85383a
4:79305148 FRAS1 C>G	4	79305148	79305148	C	G	FRAS1	c.3564-65C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79305148C>G	(Likely) benign	1 lab	c5bb42bbe9
9:140058297 GRIN1 C>T	9	140058297	140058297	C	T	GRIN1	c.2593C>T	NM_001185090.1	NP_001172019.1:p.(Arg865Cys)	NC_000009.11:g.140058297C>T	(Likely) pathogenic	1 lab	e950038a5c
X:19369399 PDHA1 G>A	X	19369399	19369399	G	A	PDHA1				NC_000023.10:g.19369399G>A	(Likely) benign	1 lab	e9545d4c80
4:90650425 SNCA C>T	4	90650425	90650425	C	T	SNCA	c.310G>A	NM_000345.3	NP_000336.1:p.(Glu104Lys)	NC_000004.11:g.90650425C>T	VUS	1 lab	e95500048e
6:51695770 PKHD1 CA>C	6	51695770	51695771	CA	C	PKHD1	c.8190del	NM_138694.3	NP_619639.3:p.(Glu2731AsnfsTer4)	NC_000006.11:g.51695771del	(Likely) pathogenic	1 lab	e9565bae75
8:140631235 KCNK9 G>A	8	140631235	140631235	G	A	KCNK9	c.391C>T	NM_001282534.2	NP_001269463.1:p.(Arg131Cys)	NC_000008.10:g.140631235G>A	(Likely) pathogenic	1 lab	e9583e0c9e
13:23915019 SACS A>G	13	23915019	23915019	A	G	SACS	c.2996T>C	NM_014363.5	NP_055178.3:p.(Ile999Thr)	NC_000013.10:g.23915019A>G	VUS	1 lab	e96e3979c3
9:2648696 VLDLR A>T	9	2648696	2648696	A	T	VLDLR	c.1990A>T	NM_003383.5	NP_003374.3:p.(Asn664Tyr)	NC_000009.11:g.2648696A>T	VUS	1 lab	e95ccbdda6
6:129588296 LAMA2 G>A	6	129588296	129588296	G	A	LAMA2	c.2254G>A	NM_000426.3	NP_000417.2:p.(Gly752Ser)	NC_000006.11:g.129588296G>A	VUS	1 lab	e95d00e81c
17:7107027 DLG4 G>A	17	7107027	7107027	G	A	DLG4				NC_000017.10:g.7107027G>A	(Likely) pathogenic	1 lab	e9725811f3
17:10297589 MYH8 G>A	17	10297589	10297589	G	A	MYH8	c.5143C>T	NM_002472.2	NP_002463.2:p.(Arg1715Cys)	NC_000017.10:g.10297589G>A	VUS	1 lab	e95e9154fd
9:103046624 INVS C>T	9	103046624	103046624	C	T	INVS	c.1807C>T	NM_014425.3	NP_055240.2:p.(Arg603Ter)	NC_000009.11:g.103046624C>T	(Likely) pathogenic	1 lab	e9614a1b75
X:32366562 DMD C>A	X	32366562	32366562	C	A	DMD				NC_000023.10:g.32366562C>A	VUS	1 lab	e9624a3dc0
X:10176084 CLCN4 G>A	X	10176084	10176084	G	A	CLCN4	c.844-1G>A	NM_001830.4	NP_001821.2:p.?	NC_000023.10:g.10176084G>A	VUS	1 lab	1572be88f3
2:109379789 RANBP2 T>C	2	109379789	109379789	T	C	RANBP2	c.2794T>C	NM_006267.5	NP_006258.3:p.(Cys932Arg)	NC_000002.11:g.109379789T>C	VUS	1 lab	e9636ae274
10:89720712 PTEN A>G	10	89720712	89720712	A	G	PTEN	c.863A>G	NM_000314.4	NP_000305.3:p.(Glu288Gly)	NC_000010.10:g.89720712A>G	(Likely) benign	1 lab	e963cd58d1
16:15870045 MYH11 G>A	16	15870045	15870045	G	A	MYH11	c.812-12C>T	NM_001040113.1	NP_001035202.1:p.?	NC_000016.9:g.15870045G>A	(Likely) benign	1 lab	e966314d00
9:131009724 DNM1 G>T	9	131009724	131009724	G	T	DNM1				NC_000009.11:g.131009724G>T	VUS	1 lab	e9669bcdaf
7:128492885 FLNC T>C	7	128492885	128492885	T	C	FLNC	c.6008T>C	NM_001458.4	NP_001449.3:p.(Ile2003Thr)	NC_000007.13:g.128492885T>C	VUS	1 lab	e966ceb345
11:121008133 TECTA T>C	11	121008133	121008133	T	C	TECTA				NC_000011.9:g.121008133T>C	VUS	1 lab	e967482848
3:129251183 RHO T>G	3	129251183	129251183	T	G	RHO	c.620T>G	NM_000539.3	NP_000530.1:p.(Met207Arg)	NC_000003.11:g.129251183T>G	(Likely) pathogenic	1 lab	e96a054ed7
3:58134478 FLNB C>T	3	58134478	58134478	C	T	FLNB	c.5990C>T	NM_001457.4	NP_001448.2:p.(Ser1997Leu)	NC_000003.11:g.58134478C>T	VUS	1 lab	157326c2bc
21:35258631 ITSN1 G>A	21	35258631	35258631	G	A	ITSN1	c.4884G>A	NM_003024.3	NP_003015.2:p.(Gln1628=)	NC_000021.8:g.35258631G>A	(Likely) benign	1 lab	17061ad229
3:147128159 ZIC1 G>A	3	147128159	147128159	G	A	ZIC1	c.260G>A	NM_003412.3	NP_003403.2:p.(Gly87Asp)	NC_000003.11:g.147128159G>A	VUS	1 lab	e9704eff8b
15:89861848 POLG C>T	15	89861848	89861848	C	T	POLG	c.3406G>A	NM_002693.3	NP_002684.1:p.(Glu1136Lys)	NC_000015.9:g.89861848C>T	(Likely) pathogenic	1 lab	e9715b73aa
5:88119553 MEF2C T>C	5	88119553	88119553	T	C	MEF2C	c.53A>G	NM_001193347.1	NP_001180276.1:p.(Gln18Arg)	NC_000005.9:g.88119553T>C	VUS	1 lab	e9740ffe0b
2:47630548 MSH2 G>A	2	47630548	47630548	G	A	MSH2	c.211+7G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47630548G>A	(Likely) benign	1 lab	e9777f83b3
2:47708010 MSH2 G>A	2	47708010	47708010	G	A	MSH2	c.2634G>A	NM_000251.2	NP_000242.1:p.(Glu878=)	NC_000002.11:g.47708010G>A	(Likely) pathogenic	1 lab	e97bd9172f
3:9486922 SETD5 G>T	3	9486922	9486922	G	T	SETD5	c.1378G>T	NM_001080517.3	NP_001073986.1:p.(Glu460Ter)	NC_000003.11:g.9486922G>T	(Likely) pathogenic	1 lab	e97d01552e
1:41285118 KCNQ4 T>A	1	41285118	41285118	T	A	KCNQ4	c.808T>A	NM_004700.3	NP_004691.2:p.(Tyr270Asn)	NC_000001.10:g.41285118T>A	VUS	1 lab	e97da88a48
7:107330570 SLC26A4 A>G	7	107330570	107330570	A	G	SLC26A4	c.1151A>G	NM_000441.1	NP_000432.1:p.(Glu384Gly)	NC_000007.13:g.107330570A>G	(Likely) pathogenic	1 lab	e980f3ef2a
14:30099997 PRKD1 C>T	14	30099997	30099997	C	T	PRKD1	c.1623G>A	NM_002742.3	NP_002733.2:p.(Met541Ile)	NC_000014.8:g.30099997C>T	VUS	1 lab	e98aab4531
7:74193668 NCF1 G>A	7	74193668	74193668	G	A	NCF1	c.295=	NM_000265.6	NP_000256.4:p.(Ser99=)	NC_000007.13:g.74193668G>A	(Likely) benign	1 lab	15762a2b65
14:95562797 DICER1 G>A	14	95562797	95562797	G	A	DICER1	c.4460C>T	NM_030621.4	NP_085124.2:p.(Ser1487Phe)	NC_000014.8:g.95562797G>A	VUS	1 lab	15793304b1
15:48826343 FBN1 C>T	15	48826343	48826343	C	T	FBN1	c.796G>A	NM_000138.4	NP_000129.3:p.(Val266Ile)	NC_000015.9:g.48826343C>T	VUS	1 lab	e98ed2cc16
14:23889320 MYH7 C>T	14	23889320	23889320	C	T	MYH7	c.3460G>A	NM_000257.4	NP_000248.2:p.(Gly1154Ser)	NC_000014.8:g.23889320C>T	VUS	1 lab	e98eea4377
16:84066954 SLC38A8 A>T	16	84066954	84066954	A	T	SLC38A8	c.509T>A	NM_001080442.3	NP_001073911.1:p.(Ile170Asn)	NC_000016.9:g.84066954A>T	VUS	1 lab	e996a0aca3
10:60549428 BICC1 C>A	10	60549428	60549428	C	A	BICC1	c.796-14C>A	NM_001080512.3	NP_001073981.1:p.?	NC_000010.10:g.60549428C>A	(Likely) benign	1 lab	170a2addd9
6:42975224 PPP2R5D G>A	6	42975224	42975224	G	A	PPP2R5D	c.253G>A	NM_001270476.2	NP_001257405.1:p.(Asp85Asn)	NC_000006.11:g.42975224G>A	VUS	1 lab	15795be7cf
4:6577074 MAN2B2 A>G	4	6577074	6577074	A	G	MAN2B2	c.137A>G	NM_015274.3	NP_056089.1:p.(Gln46Arg)	NC_000004.11:g.6577074A>G	VUS	1 lab	1579dc2880
17:61391841 TANC2 C>T	17	61391841	61391841	C	T	TANC2	c.1030C>T	NM_025185.4	NP_079461.2:p.(Arg344Ter)	NC_000017.10:g.61391841C>T	(Likely) pathogenic	1 lab	157b606d15
7:6027196 PMS2 C>A	7	6027196	6027196	C	A	PMS2	c.1200G>T	NM_000535.7	NP_000526.2:p.(Gln400His)	NC_000007.13:g.6027196C>A	(Likely) benign	1 lab	e9a0327025
12:57567723 LRP1 C>T	12	57567723	57567723	C	T	LRP1	c.3507C>T	NM_002332.2	NP_002323.2:p.(Asn1169=)	NC_000012.11:g.57567723C>T	(Likely) benign	1 lab	e9a0c07a74
17:41276028 BRCA1 A>G	17	41276028	41276028	A	G	BRCA1	c.80+6T>C	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41276028A>G	(Likely) benign	1 lab	170d34b9eb
3:48618792 COL7A1 G>A	3	48618792	48618792	G	A	COL7A1	c.4819-19C>T	NM_000094.3	NP_000085.1:p.?	NC_000003.11:g.48618792G>A	(Likely) benign	1 lab	e9aa54c715
X:67412775 OPHN1 A>G	X	67412775	67412775	A	G	OPHN1				NC_000023.10:g.67412775A>G	(Likely) pathogenic	1 lab	e9ac9ca819
17:54923080 DGKE C>T	17	54923080	54923080	C	T	DGKE	c.654C>T	NM_003647.2	NP_003638.1:p.(Thr218=)	NC_000017.10:g.54923080C>T	VUS	1 lab	e9b1af1307
14:95569941 DICER1 C>T	14	95569941	95569941	C	T	DICER1	c.3792G>A	NM_177438.3	NP_803187.1:p.(Thr1264=)	NC_000014.8:g.95569941C>T	(Likely) benign	1 lab	e9b1f6faee
5:169504823 DOCK2 G>C	5	169504823	169504823	G	C	DOCK2	c.4976G>C	NM_004946.3	NP_004937.1:p.(Ser1659Thr)	NC_000005.9:g.169504823G>C	(Likely) benign	1 lab	170edea9ac
20:2840916 VPS16 G>C	20	2840916	2840916	G	C	VPS16	c.272G>C	NM_022575.4	NP_072097.2:p.(Trp91Ser)	NC_000020.10:g.2840916G>C	VUS	1 lab	e9b8e510bd
X:153001640 ABCD1 A>T	X	153001640	153001640	A	T	ABCD1	c.1156A>T	NM_000033.3	NP_000024.2:p.(Thr386Ser)	NC_000023.10:g.153001640A>T	VUS	1 lab	e9b9d50aaf
7:128494040 FLNC A>G	7	128494040	128494040	A	G	FLNC	c.6497A>G	NM_001458.4	NP_001449.3:p.(Gln2166Arg)	NC_000007.13:g.128494040A>G	VUS	1 lab	e9ba0a8a41
16:23649260 PALB2 G>A	16	23649260	23649260	G	A	PALB2	c.122C>T	NM_024675.3	NP_078951.2:p.(Ala41Val)	NC_000016.9:g.23649260G>A	VUS	1 lab	e9bac9dded
13:33590690 KL G>A	13	33590690	33590690	G	A	KL	c.112G>A	NM_004795.4	NP_004786.2:p.(Gly38Ser)	NC_000013.10:g.33590690G>A	VUS	1 lab	2542742b5d
2:5833298 SOX11 AGCGCGGGCGGAG>A	2	5833298	5833320	AGCGCGGGCGGAG	A	SOX11	c.456_467del	NM_003108.4	NP_003099.1:p.(Gly153_Gly156del)	NC_000002.11:g.5833309_5833320del	VUS	1 lab	157ee4c682
12:80982037 MISSING A>T	12	80982037	80982037	A	T	MISSING				NC_000012.11:g.80982037A>T	VUS	1 lab	ead45287cc
1:109440215 GPSM2 G>A	1	109440215	109440215	G	A	GPSM2	c.380G>A	NM_013296.4	NP_037428.3:p.(Arg127Gln)	NC_000001.10:g.109440215G>A	(Likely) benign	1 lab	e9c17c5e27
2:109513638 EDAR G>A	2	109513638	109513638	G	A	EDAR	c.1072C>T	NM_022336.4	NP_071731.1:p.(Arg358Ter)	NC_000002.11:g.109513638G>A	(Likely) pathogenic	1 lab	1583f21bf5
18:29126552 DSG2 C>G	18	29126552	29126552	C	G	DSG2	c.3203C>G	NM_001943.5	NP_001934.2:p.(Ser1068Cys)	NC_000018.9:g.29126552C>G	VUS	1 lab	15882038ac
1:236557771 EDARADD G>A	1	236557771	236557771	G	A	EDARADD	c.27G>A	NM_145861.4	NP_665860.2:p.(Met9Ile)	NC_000001.10:g.236557771G>A	(Likely) benign	1 lab	158ec0d89a
3:71096160 FOXP1 CA>C	3	71096160	71096163	CA	C	FOXP1	c.596del	NM_032682.5	NP_116071.2:p.(Leu199CysfsTer7)	NC_000003.11:g.71096163del	(Likely) pathogenic	1 lab	e9c441e893
7:140481402 BRAF C>G	7	140481402	140481402	C	G	BRAF				NC_000007.13:g.140481402C>G	(Likely) pathogenic	1 lab	e9c6536d14
8:41791074 KAT6A C>G	8	41791074	41791074	C	G	KAT6A	c.4664G>C	NM_006766.4	NP_006757.2:p.(Ser1555Thr)	NC_000008.10:g.41791074C>G	(Likely) pathogenic	1 lab	e9c88bdd36
17:41245549 BRCA1 G>A	17	41245549	41245549	G	A	BRCA1	c.1999C>T	NM_007294.4	NP_009225.1:p.(Gln667Ter)	NC_000017.10:g.41245549G>A	(Likely) pathogenic	1 lab	158fdc993e
22:51011933 CPT1B T>C	22	51011933	51011933	T	C	CPT1B	c.1166+16A>G	NM_004377.3	NP_004368.1:p.?	NC_000022.10:g.51011933T>C	(Likely) benign	1 lab	e9ce81a124
2:179600511 TTN G>C	2	179600511	179600511	G	C	TTN	c.14662C>G	NM_001267550.2	NP_001254479.2:p.(Pro4888Ala)	NC_000002.11:g.179600511G>C	VUS	1 lab	e9d187106c
1:16378300 CLCNKB G>A	1	16378300	16378300	G	A	CLCNKB	c.1393G>A	NM_000085.4	NP_000076.2:p.(Gly465Arg)	NC_000001.10:g.16378300G>A	(Likely) pathogenic	1 lab	170efe4fc8
10:16975122 CUBN G>A	10	16975122	16975122	G	A	CUBN	c.6088C>T	NM_001081.3	NP_001072.2:p.(Arg2030Ter)	NC_000010.10:g.16975122G>A	(Likely) pathogenic	1 lab	170fd6cdda
19:49468604 FTL C>T	19	49468604	49468604	C	T	FTL	c.-161C>T	NM_000146.3	NP_000137.2:p.?	NC_000019.9:g.49468604C>T	(Likely) pathogenic	1 lab	e9ee207a27
4:187208894 F11 T>C	4	187208894	187208894	T	C	F11	c.1633T>C	NM_000128.3	NP_000119.1:p.(Cys545Arg)	NC_000004.11:g.187208894T>C	(Likely) pathogenic	1 lab	e9d9d3a189
3:37070312 MLH1 G>T	3	37070312	37070312	G	T	MLH1	c.1447G>T	NM_000249.3	NP_000240.1:p.(Glu483Ter)	NC_000003.11:g.37070312G>T	(Likely) pathogenic	1 lab	e9dca96a6f
6:112460349 LAMA4 G>A	6	112460349	112460349	G	A	LAMA4	c.3255C>T	NM_001105206.2	NP_001098676.2:p.(Asn1085=)	NC_000006.11:g.112460349G>A	(Likely) benign	1 lab	e9dcac01a1
17:29645994 NF1 T>C	17	29645994	29645994	T	C	NF1	c.4836-6844T>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29645994T>C	(Likely) benign	1 lab	e9de08ef07
17:41197751 BRCA1 G>T	17	41197751	41197751	G	T	BRCA1	c.5536C>A	NM_007294.3	NP_009225.1:p.(Gln1846Lys)	NC_000017.10:g.41197751G>T	(Likely) benign	1 lab	e9deb9c612
X:107850076 COL4A5 G>A	X	107850076	107850076	G	A	COL4A5	c.2349G>A	NM_033380.3	NP_203699.1:p.(Pro783=)	NC_000023.10:g.107850076G>A	(Likely) benign	1 lab	e9e0fb13ff
11:58723327 MISSING C>T	11	58723327	58723327	C	T	MISSING				NC_000011.9:g.58723327C>T	VUS	1 lab	e9e2e74e5d
1:120284428 PHGDH G>A	1	120284428	120284428	G	A	PHGDH	c.1117G>A	NM_006623.4	NP_006614.2:p.(Ala373Thr)	NC_000001.10:g.120284428G>A	(Likely) pathogenic	1 lab	347f2b1657
16:28497788 CLN3 G>A	16	28497788	28497788	G	A	CLN3	c.557C>T	NM_001042432.1	NP_001035897.1:p.(Ser186Leu)	NC_000016.9:g.28497788G>A	VUS	1 lab	e9e507a562
11:126333051 KIRREL3 C>T	11	126333051	126333051	C	T	KIRREL3	c.742+1G>A	NM_032531.4	NP_115920.1:p.?	NC_000011.9:g.126333051C>T	(Likely) benign	1 lab	e9e6462367
4:106164068 TET2 G>T	4	106164068	106164068	G	T	TET2	c.3578G>T	NM_001127208.2	NP_001120680.1:p.(Cys1193Phe)	NC_000004.11:g.106164068G>T	VUS	1 lab	e9e809e1a4
1:154561861 ADAR G>A	1	154561861	154561861	G	A	ADAR	c.2746C>T	NM_001111.4	NP_001102.2:p.(Arg916Trp)	NC_000001.10:g.154561861G>A	VUS	1 lab	e9e96b925e
9:14113048 NFIB G>A	9	14113048	14113048	G	A	NFIB	c.1510C>T	NM_001369458.1	NP_001356387.1:p.(Arg504Ter)	NC_000009.11:g.14113048G>A	(Likely) pathogenic	1 lab	e9ea096971
2:69565136 GFPT1 G>A	2	69565136	69565136	G	A	GFPT1	c.1376C>T	NM_001244710.2	NP_001231639.1:p.(Ala459Val)	NC_000002.11:g.69565136G>A	VUS	1 lab	e9ebd3401b
9:139581724 AGPAT2 T>C	9	139581724	139581724	T	C	AGPAT2	c.86A>G	NM_006412.4	NP_006403.2:p.(Lys29Arg)	NC_000009.11:g.139581724T>C	VUS	1 lab	1592d393ba
8:133931636 TG G>A	8	133931636	133931636	G	A	TG				NC_000008.10:g.133931636G>A	(Likely) pathogenic	1 lab	eb67fc61f0
17:7978937 ALOX12B A>G	17	7978937	7978937	A	G	ALOX12B	c.1630T>C	NM_001139.3	NP_001130.1:p.(Cys544Arg)	NC_000017.10:g.7978937A>G	(Likely) pathogenic	1 lab	e9f433716c
8:11616836 GATA4 G>A	8	11616836	11616836	G	A	GATA4	c.*852G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616836G>A	(Likely) benign	1 lab	e9f70d333a
16:81934332 PLCG2 A>G	16	81934332	81934332	A	G	PLCG2	c.1309A>G	NM_002661.3	NP_002652.2:p.(Ser437Gly)	NC_000016.9:g.81934332A>G	(Likely) benign	1 lab	1714047731
10:6063674 IL2RA T>C	10	6063674	6063674	T	C	IL2RA	c.368-18A>G	NM_000417.3	NP_000408.1:p.?	NC_000010.10:g.6063674T>C	(Likely) benign	1 lab	159518c24b
7:44180304 MYL7 C>T	7	44180304	44180304	C	T	MYL7	c.193+7G>A	NM_021223.2	NP_067046.1:p.?	NC_000007.13:g.44180304C>T	VUS	1 lab	e9fc39b098
5:112173656 APC C>T	5	112173656	112173656	C	T	APC	c.2365C>T	NM_000038.5	NP_000029.2:p.(Gln789Ter)	NC_000005.9:g.112173656C>T	(Likely) pathogenic	1 lab	e9fcdde706
4:187208908 F11 C>G	4	187208908	187208908	C	G	F11				NC_000004.11:g.187208908C>G	(Likely) pathogenic	1 lab	ea00c57f36
2:26760642 OTOF C>T	2	26760642	26760642	C	T	OTOF	c.80G>A	NM_194248.2	NP_919224.1:p.(Gly27Glu)	NC_000002.11:g.26760642C>T	VUS	1 lab	ea011704e4
1:160325438 NCSTN C>T	1	160325438	160325438	C	T	NCSTN	c.1353-7C>T	NM_015331.3	NP_056146.1:p.?	NC_000001.10:g.160325438C>T	(Likely) benign	1 lab	1716d6921c
5:125885616 ALDH7A1 C>T	5	125885616	125885616	C	T	ALDH7A1	c.1489+5G>A	NM_001182.4	NP_001173.2:p.?	NC_000005.9:g.125885616C>T	(Likely) pathogenic	1 lab	ea04e05db6
1:16451824 EPHA2 C>T	1	16451824	16451824	C	T	EPHA2	c.2826-9G>A	NM_004431.5	NP_004422.2:p.?	NC_000001.10:g.16451824C>T	(Likely) pathogenic	1 lab	ea07bf4faf
3:121500636 IQCB1 C>T	3	121500636	121500636	C	T	IQCB1	c.1364G>A	NM_001023570.2	NP_001018864.2:p.(Arg455Gln)	NC_000003.11:g.121500636C>T	VUS	1 lab	ea082f8cc1
2:39234258 SOS1 G>T	2	39234258	39234258	G	T	SOS1	c.2587C>A	NM_005633.4	NP_005624.2:p.(Gln863Lys)	NC_000002.11:g.39234258G>T	VUS	1 lab	ea091aec94
11:76826606 CAPN5 C>T	11	76826606	76826606	C	T	CAPN5				NC_000011.9:g.76826606C>T	VUS	1 lab	ea09b59d36
9:139396376 NOTCH1 G>A	9	139396376	139396376	G	A	NOTCH1	c.5473-11C>T	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139396376G>A	(Likely) benign	1 lab	ea0f692fd6
10:76781858 KAT6B G>T	10	76781858	76781858	G	T	KAT6B	c.3241G>T	NM_012330.3	NP_036462.2:p.(Glu1081Ter)	NC_000010.10:g.76781858G>T	(Likely) pathogenic	1 lab	ea10015129
16:23649232 PALB2 T>A	16	23649232	23649232	T	A	PALB2	c.150A>T	NM_024675.3	NP_078951.2:p.(Lys50Asn)	NC_000016.9:g.23649232T>A	VUS	1 lab	ea13b9af19
3:52486115 TNNC1 G>GC	3	52486115	52486116	G	GC	TNNC1	c.202+6_202+7insG	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52486115_52486116insC	(Likely) benign	1 lab	ea142a5ff1
11:68115603 LRP5 C>T	11	68115603	68115603	C	T	LRP5	c.380C>T	NM_002335.4	NP_002326.2:p.(Ser127Leu)	NC_000011.9:g.68115603C>T	VUS	1 lab	ea1894cf2a
18:34233364 FHOD3 C>G	18	34233364	34233364	C	G	FHOD3	c.1706C>G	NM_001281740.3	NP_001268669.1:p.(Ser569Cys)	NC_000018.9:g.34233364C>G	VUS	1 lab	1716f26ec8
10:69881428 MYPN T>A	10	69881428	69881428	T	A	MYPN	c.233T>A	NM_032578.4	NP_115967.2:p.(Leu78Ter)	NC_000010.10:g.69881428T>A	VUS	1 lab	ea20d07439
17:29559126 NF1 C>G	17	29559126	29559126	C	G	NF1	c.3233C>G	NM_001042492.3	NP_001035957.1:p.(Ser1078Ter)	NC_000017.10:g.29559126C>G	(Likely) pathogenic	1 lab	ea24525b57
14:23894256 MYH7 G>T	14	23894256	23894256	G	T	MYH7	c.2424-23C>A	NM_000257.3	NP_000248.2:p.?	NC_000014.8:g.23894256G>T	(Likely) benign	1 lab	ea27acd31d
2:32362008 SPAST A>G	2	32362008	32362008	A	G	SPAST	c.1384A>G	NM_014946.3	NP_055761.2:p.(Lys462Glu)	NC_000002.11:g.32362008A>G	VUS	1 lab	ea29ef2847
1:46655200 POMGNT1 G>A	1	46655200	46655200	G	A	POMGNT1	c.1825C>T	NM_001243766.2	NP_001230695.2:p.(Arg609Trp)	NC_000001.10:g.46655200G>A	VUS	1 lab	15a37a5c2f
10:67680379 CTNNA3 TAGGGAAAAA>T	10	67680379	67680390	TAGGGAAAAA	T	CTNNA3	c.2401-13_2401-5del	NM_013266.3	NP_037398.2:p.?	NC_000010.10:g.67680382_67680390del	(Likely) benign	1 lab	ea31250a2b
1:94564430 ABCA4 A>T	1	94564430	94564430	A	T	ABCA4	c.688T>A	NM_000350.2	NP_000341.2:p.(Cys230Ser)	NC_000001.10:g.94564430A>T	(Likely) pathogenic	1 lab	ea322a22cf
1:228547396 OBSCN C>T	1	228547396	228547396	C	T	OBSCN	c.21533-2881C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228547396C>T	(Likely) benign	1 lab	ea329d658b
11:45955596 MISSING C>T	11	45955596	45955596	C	T	MISSING				NC_000011.9:g.45955596C>T	(Likely) benign	1 lab	1721e0c551
17:78092457 GAA G>A	17	78092457	78092457	G	A	GAA	c.2652G>A	NM_000152.3	NP_000143.2:p.(Thr884=)	NC_000017.10:g.78092457G>A	(Likely) benign	1 lab	ea3879acd4
11:108235898 ATM T>G	11	108235898	108235898	T	G	ATM	c.8940T>G	NM_000051.4	NP_000042.3:p.(Leu2980=)	NC_000011.9:g.108235898T>G	(Likely) benign	1 lab	ea39b1e796
11:2610066 KCNQ1 G>A	11	2610066	2610066	G	A	KCNQ1	c.1375G>A	NM_000218.2	NP_000209.2:p.(Asp459Asn)	NC_000011.9:g.2610066G>A	VUS	1 lab	cb5e959160
15:44943894 SPG11 G>A	15	44943894	44943894	G	A	SPG11	c.1251C>T	NM_025137.3	NP_079413.3:p.(His417=)	NC_000015.9:g.44943894G>A	(Likely) benign	1 lab	ea3bdbd46a
12:3040395 TULP3 G>GAAAAT	12	3040395	3040400	G	GAAAAT	TULP3	c.686_690dup	NM_003324.5	NP_003315.2:p.(Gln231LysfsTer60)	NC_000012.11:g.3040396_3040400dup	(Likely) pathogenic	1 lab	15a523d7e1
22:41864657 ACO2 T>A	22	41864657	41864657	T	A	ACO2				NC_000022.10:g.41864657T>A	VUS	1 lab	eb7c3e75ff
8:10464935 RP1L1 G>A	8	10464935	10464935	G	A	RP1L1	c.6673C>T	NM_178857.5	NP_849188.4:p.(Pro2225Ser)	NC_000008.10:g.10464935G>A	(Likely) benign	1 lab	ea405230c4
1:152276598 FLG G>A	1	152276598	152276598	G	A	FLG	c.10764C>T	NM_002016.1	NP_002007.1:p.(His3588=)	NC_000001.10:g.152276598G>A	(Likely) benign	1 lab	ea6a12286b
19:50165259 IRF3 C>T	19	50165259	50165259	C	T	IRF3	c.928G>A	NM_001571.6	NP_001562.1:p.(Glu310Lys)	NC_000019.9:g.50165259C>T	VUS	1 lab	15a6bb3fd9
19:42793062 CIC T>TG	19	42793062	42793063	T	TG	CIC	c.3682dup	NM_001386298.1	NP_001373227.1:p.(Ala1228GlyfsTer88)	NC_000019.9:g.42793063dup	(Likely) pathogenic	1 lab	ea45147c04
7:107314664 SLC26A4 C>T	7	107314664	107314664	C	T	SLC26A4	c.471C>T	NM_000441.1	NP_000432.1:p.(Pro157=)	NC_000007.13:g.107314664C>T	(Likely) pathogenic	1 lab	ea46e922e0
1:215848728 USH2A C>A	1	215848728	215848728	C	A	USH2A				NC_000001.10:g.215848728C>A	(Likely) pathogenic	1 lab	ea477ac5d1
12:95397453 NDUFA12 C>A	12	95397453	95397453	C	A	NDUFA12	c.4G>T	NM_018838.4	NP_061326.1:p.(Glu2Ter)	NC_000012.11:g.95397453C>A	(Likely) pathogenic	1 lab	ea4b4171b6
5:149777973 TCOF1 A>T	5	149777973	149777973	A	T	TCOF1	c.4399A>T	NM_001135243.1	NP_001128715.1:p.(Lys1467Ter)	NC_000005.9:g.149777973A>T	(Likely) pathogenic	1 lab	ea4d3e3ff6
2:73677549 MISSING C>T	2	73677549	73677549	C	T	MISSING				NC_000002.11:g.73677549C>T	(Likely) pathogenic	1 lab	ea4f80e654
4:144336786 GAB1 A>G	4	144336786	144336786	A	G	GAB1	c.229A>G	NM_207123.2	NP_997006.1:p.(Lys77Glu)	NC_000004.11:g.144336786A>G	VUS	1 lab	ea5044286f
5:147510934 SPINK5 T>C	5	147510934	147510934	T	C	SPINK5	c.3167T>C	NM_001127698.2	NP_001121170.1:p.(Met1056Thr)	NC_000005.9:g.147510934T>C	VUS	1 lab	15ad1cd734
8:68130139 ARFGEF1 C>T	8	68130139	68130139	C	T	ARFGEF1	c.4491G>A	NM_006421.5	NP_006412.2:p.(Ala1497=)	NC_000008.10:g.68130139C>T	(Likely) benign	1 lab	15b409488d
3:113374627 USF3 G>A	3	113374627	113374627	G	A	USF3	c.5902C>T	NM_001009899.4	NP_001009899.3:p.(Arg1968Cys)	NC_000003.11:g.113374627G>A	VUS	1 lab	15b47403aa
3:38768453 SCN10A G>C	3	38768453	38768453	G	C	SCN10A	c.2731C>G	NM_006514.3	NP_006505.3:p.(Gln911Glu)	NC_000003.11:g.38768453G>C	VUS	1 lab	ea60ef959d
3:38739054 SCN10A G>A	3	38739054	38739054	G	A	SCN10A	c.5657C>T	NM_006514.3	NP_006505.3:p.(Ala1886Val)	NC_000003.11:g.38739054G>A	(Likely) benign	1 lab	ea6671ffcd
2:165946723 SCN3A C>T	2	165946723	165946723	C	T	SCN3A	c.5940G>A	NM_006922.4	NP_008853.3:p.(Lys1980=)	NC_000002.11:g.165946723C>T	(Likely) benign	1 lab	ea68905352
X:44922997 KDM6A A>G	X	44922997	44922997	A	G	KDM6A	c.2014A>G	NM_001291415.2	NP_001278344.1:p.(Asn672Asp)	NC_000023.10:g.44922997A>G	VUS	1 lab	ea697f6e3a
16:67662339 CTCF G>A	16	67662339	67662339	G	A	CTCF	c.1585G>A	NM_006565.3	NP_006556.1:p.(Asp529Asn)	NC_000016.9:g.67662339G>A	VUS	1 lab	ea6d5f1f38
7:81589064 CACNA2D1 T>C	7	81589064	81589064	T	C	CACNA2D1	c.3048A>G	NM_000722.3	NP_000713.2:p.(Thr1016=)	NC_000007.13:g.81589064T>C	(Likely) benign	1 lab	ea6f465879
5:125885878 ALDH7A1 A>G	5	125885878	125885878	A	G	ALDH7A1				NC_000005.9:g.125885878A>G	VUS	1 lab	ea70f6b69b
12:52093399 SCN8A T>C	12	52093399	52093399	T	C	SCN8A	c.752T>C	NM_001330260.1	NP_001317189.1:p.(Leu251Pro)	NC_000012.11:g.52093399T>C	(Likely) pathogenic	1 lab	ea76883a0c
1:237955424 RYR2 T>C	1	237955424	237955424	T	C	RYR2	c.13583T>C	NM_001035.3	NP_001026.2:p.(Val4528Ala)	NC_000001.10:g.237955424T>C	VUS	1 lab	1736cfd1a0
12:23716268 SOX5 C>G	12	23716268	23716268	C	G	SOX5				NC_000012.11:g.23716268C>G	VUS	1 lab	eb5f588ca8
10:75874121 VCL A>G	10	75874121	75874121	A	G	VCL	c.3129A>G	NM_014000.2	NP_054706.1:p.(Lys1043=)	NC_000010.10:g.75874121A>G	(Likely) benign	1 lab	ea7a103c3a
5:70928012 MCCC2 G>C	5	70928012	70928012	G	C	MCCC2	c.803G>C	NM_022132.5	NP_071415.1:p.(Arg268Thr)	NC_000005.9:g.70928012G>C	(Likely) pathogenic	1 lab	ea7c5c0813
9:98212224 PTCH1 T>C	9	98212224	98212224	T	C	PTCH1	c.3450-2A>G	NM_000264.3	NP_000255.2:p.?	NC_000009.11:g.98212224T>C	(Likely) pathogenic	1 lab	ea7d46d115
1:201036001 CACNA1S T>C	1	201036001	201036001	T	C	CACNA1S	c.2657+14A>G	NM_000069.3	NP_000060.2:p.?	NC_000001.10:g.201036001T>C	(Likely) benign	1 lab	ea7eaf567a
7:35242380 TBX20 A>T	7	35242380	35242380	A	T	TBX20	c.1006T>A	NM_001077653.2	NP_001071121.1:p.(Ser336Thr)	NC_000007.13:g.35242380A>T	(Likely) benign	1 lab	15b848ecad
18:32409445 DTNA C>T	18	32409445	32409445	C	T	DTNA	c.213C>T	NM_001198942.1	NP_001185871.1:p.(His71=)	NC_000018.9:g.32409445C>T	(Likely) benign	1 lab	1730e015f5
2:179429440 TTN C>T	2	179429440	179429440	C	T	TTN	c.81419G>A	NM_001267550.2	NP_001254479.2:p.(Gly27140Asp)	NC_000002.11:g.179429440C>T	VUS	1 lab	ea8426f3e9
22:29115378 CHEK2 T>C	22	29115378	29115378	T	C	CHEK2	c.683+5A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29115378T>C	(Likely) benign	1 lab	ea850d5d89
9:130423419 STXBP1 C>T	9	130423419	130423419	C	T	STXBP1				NC_000009.11:g.130423419C>T	(Likely) pathogenic	1 lab	ea88d39336
2:32339831 SPAST C>A	2	32339831	32339831	C	A	SPAST	c.807C>A	NM_014946.3	NP_055761.2:p.(Tyr269Ter)	NC_000002.11:g.32339831C>A	(Likely) pathogenic	1 lab	ea8dbcbf1e
11:46745003 F2 C>T	11	46745003	46745003	C	T	F2	c.494C>T	NM_000506.3	NP_000497.1:p.(Thr165Met)	NC_000011.9:g.46745003C>T	(Likely) benign	1 lab	ea93919bce
2:215617262 BARD1 C>T	2	215617262	215617262	C	T	BARD1	c.1586G>A	NM_000465.4	NP_000456.2:p.(Arg529Gln)	NC_000002.11:g.215617262C>T	VUS	1 lab	ea9696e010
3:37034921 MLH1 G>A	3	37034921	37034921	G	A	MLH1				NC_000003.11:g.37034921G>A	(Likely) benign	1 lab	ea97ebc841
21:43803325 TMPRSS3 G>A	21	43803325	43803325	G	A	TMPRSS3				NC_000021.8:g.43803325G>A	(Likely) benign	1 lab	eb64adbd2b
19:55665328 TNNI3 G>GCTAGGC	19	55665328	55665329	G	GCTAGGC	TNNI3	c.549+69_549+70insGCCTAG	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55665328_55665329insCTAGGC	(Likely) benign	1 lab	ea9816c48d
12:56575605 SMARCC2 C>T	12	56575605	56575605	C	T	SMARCC2	c.723G>A	NM_003075.3	NP_003066.2:p.(Trp241Ter)	NC_000012.11:g.56575605C>T	(Likely) pathogenic	1 lab	ea98a305a4
8:12973153 DLC1 C>T	8	12973153	12973153	C	T	DLC1	c.1362G>A	NM_182643.3	NP_872584.2:p.(Lys454=)	NC_000008.10:g.12973153C>T	(Likely) benign	1 lab	17350ccebc
X:41043370 USP9X T>C	X	41043370	41043370	T	C	USP9X	c.3268T>C	NM_001039590.2	NP_001034679.2:p.(Tyr1090His)	NC_000023.10:g.41043370T>C	VUS	1 lab	ea9efa53e6
13:32944589 BRCA2 C>G	13	32944589	32944589	C	G	BRCA2	c.8382C>G	NM_000059.3	NP_000050.2:p.(Phe2794Leu)	NC_000013.10:g.32944589C>G	VUS	1 lab	eaa0be8910
3:53221376 PRKCD T>G	3	53221376	53221376	T	G	PRKCD	c.1373T>G	NM_006254.3	NP_006245.2:p.(Met458Arg)	NC_000003.11:g.53221376T>G	VUS	1 lab	eaa1d860c1
12:94761635 CEP83 A>T	12	94761635	94761635	A	T	CEP83	c.1278T>A	NM_016122.2	NP_057206.2:p.(Tyr426Ter)	NC_000012.11:g.94761635A>T	(Likely) pathogenic	1 lab	eaa2e093b2
2:165946807 SCN3A G>A	2	165946807	165946807	G	A	SCN3A	c.5856C>T	NM_006922.4	NP_008853.3:p.(Asn1952=)	NC_000002.11:g.165946807G>A	(Likely) benign	1 lab	eaa434add5
2:15470848 NBAS C>T	2	15470848	15470848	C	T	NBAS	c.4221G>A	NM_015909.3	NP_056993.2:p.(Leu1407=)	NC_000002.11:g.15470848C>T	(Likely) benign	1 lab	eaa49f6313
18:3089245 MYOM1 A>C	18	3089245	3089245	A	C	MYOM1	c.4070-6T>G	NM_003803.4	NP_003794.3:p.?	NC_000018.9:g.3089245A>C	VUS	1 lab	15b8677415
10:97626022 ENTPD1 TC>T	10	97626022	97626023	TC	T	ENTPD1	c.1452del	NM_001164178.1	NP_001157650.1:p.(Ser485ProfsTer22)	NC_000010.10:g.97626023del	VUS	1 lab	eaa54c4907
16:31499752 SLC5A2 C>A	16	31499752	31499752	C	A	SLC5A2	c.1070C>A	NM_003041.3	NP_003032.1:p.(Thr357Lys)	NC_000016.9:g.31499752C>A	VUS	1 lab	eaa5cf1485
10:90768666 FAS T>A	10	90768666	90768666	T	A	FAS	c.355T>A	NM_000043.6	NP_000034.1:p.(Cys119Ser)	NC_000010.10:g.90768666T>A	(Likely) pathogenic	1 lab	eaa6318233
1:16377545 CLCNKB T>A	1	16377545	16377545	T	A	CLCNKB				NC_000001.10:g.16377545T>A	(Likely) pathogenic	1 lab	eaa6beacc1
7:47898376 PKD1L1 G>A	7	47898376	47898376	G	A	PKD1L1	c.4257C>T	NM_138295.5	NP_612152.1:p.(Leu1419=)	NC_000007.13:g.47898376G>A	(Likely) benign	1 lab	17365d5d08
9:71842959 TJP2 C>A	9	71842959	71842959	C	A	TJP2				NC_000009.11:g.71842959C>A	(Likely) benign	1 lab	eb9e9a348c
17:41197776 BRCA1 C>A	17	41197776	41197776	C	A	BRCA1	c.5511G>T	NM_007294.4	NP_009225.1:p.(Trp1837Cys)	NC_000017.10:g.41197776C>A	(Likely) pathogenic	1 lab	eaaaa3c22f
10:50740627 ERCC6 G>A	10	50740627	50740627	G	A	ERCC6	c.384C>T	NM_001346440.1	NP_001333369.1:p.(Asp128=)	NC_000010.10:g.50740627G>A	(Likely) benign	1 lab	1738b592b4
2:179472202 TTN T>A	2	179472202	179472202	T	A	TTN	c.53213A>T	NM_001267550.2	NP_001254479.2:p.(Asp17738Val)	NC_000002.11:g.179472202T>A	VUS	1 lab	eaaba1ff07
1:152280864 FLG A>G	1	152280864	152280864	A	G	FLG	c.6498T>C	NM_002016.1	NP_002007.1:p.(Ser2166=)	NC_000001.10:g.152280864A>G	(Likely) benign	1 lab	eaad0849b7
10:112541496 RBM20 G>A	10	112541496	112541496	G	A	RBM20	c.1129G>A	NM_001134363.2	NP_001127835.2:p.(Gly377Ser)	NC_000010.10:g.112541496G>A	(Likely) benign	1 lab	eaae058e0c
2:238274445 COL6A3 C>T	2	238274445	238274445	C	T	COL6A3	c.5734G>A	NM_004369.3	NP_004360.2:p.(Glu1912Lys)	NC_000002.11:g.238274445C>T	VUS	1 lab	eaaeb9eb95
1:160098645 ATP1A2 T>C	1	160098645	160098645	T	C	ATP1A2				NC_000001.10:g.160098645T>C	(Likely) benign	1 lab	173b680254
19:39200944 ACTN4 G>GATA	19	39200944	39200945	G	GATA	ACTN4	c.781_782insATA	NM_004924.4	NP_004915.2:p.(Val261delinsAspMet)	NC_000019.9:g.39200944_39200945insATA	VUS	1 lab	eaaf801b06
15:35083508 ACTC1 T>TTCA	15	35083508	35083509	T	TTCA	ACTC1	c.809-13_809-12insTGA	NM_005159.4	NP_005150.1:p.?	NC_000015.9:g.35083508_35083509insTCA	(Likely) benign	1 lab	eaafb6c6a3
11:61735003 FTH1 G>A	11	61735003	61735003	G	A	FTH1				NC_000011.9:g.61735003G>A	(Likely) benign	1 lab	eab125e875
21:46330674 ITGB2 C>A	21	46330674	46330674	C	A	ITGB2	c.24G>T	NM_000211.4	NP_000202.3:p.(Leu8=)	NC_000021.8:g.46330674C>A	(Likely) benign	1 lab	eab586172a
10:69934202 MYPN C>T	10	69934202	69934202	C	T	MYPN	c.2353C>T	NM_032578.3	NP_115967.2:p.(Leu785Phe)	NC_000010.10:g.69934202C>T	(Likely) benign	1 lab	eab7637715
3:38743574 SCN10A G>A	3	38743574	38743574	G	A	SCN10A	c.4413C>T	NM_006514.4	NP_006505.4:p.(Asp1471=)	NC_000003.11:g.38743574G>A	(Likely) benign	1 lab	eab78f2900
1:94502681 ABCA4 A>C	1	94502681	94502681	A	C	ABCA4	c.3813+20T>G	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94502681A>C	(Likely) pathogenic	1 lab	eab87a401c
X:49851286 CLCN5 T>C	X	49851286	49851286	T	C	CLCN5	c.1106T>C	NM_000084.4	NP_000075.1:p.(Ile369Thr)	NC_000023.10:g.49851286T>C	VUS	1 lab	eaba719dec
1:3348725 PRDM16 C>T	1	3348725	3348725	C	T	PRDM16	c.3696+21C>T	NM_022114.4	NP_071397.3:p.?	NC_000001.10:g.3348725C>T	(Likely) benign	1 lab	15c79c1189
1:74929223 TNNI3K G>A	1	74929223	74929223	G	A	TNNI3K	c.2110G>A	NM_015978.2	NP_057062.1:p.(Ala704Thr)	NC_000001.10:g.74929223G>A	(Likely) benign	1 lab	eaba72a76c
11:108121825 ATM A>C	11	108121825	108121825	A	C	ATM	c.1607+26A>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108121825A>C	(Likely) benign	1 lab	eaba850fa9
1:94466426 ABCA4 G>A	1	94466426	94466426	G	A	ABCA4	c.6445C>T	NM_000350.2	NP_000341.2:p.(Arg2149Ter)	NC_000001.10:g.94466426G>A	(Likely) pathogenic	1 lab	eabaa99b44
6:152651868 SYNE1 T>C	6	152651868	152651868	T	C	SYNE1	c.13952A>G	NM_182961.3	NP_892006.3:p.(Gln4651Arg)	NC_000006.11:g.152651868T>C	VUS	1 lab	eabb09ff35
6:44271141 AARS2 T>G	6	44271141	44271141	T	G	AARS2				NC_000006.11:g.44271141T>G	(Likely) pathogenic	1 lab	eb61b5e192
10:104263921 SUFU G>A	10	104263921	104263921	G	A	SUFU	c.12G>A	NM_016169.3	NP_057253.2:p.(Leu4=)	NC_000010.10:g.104263921G>A	(Likely) benign	1 lab	eabb5d2b22
5:112174061 APC A>T	5	112174061	112174061	A	T	APC	c.2770A>T	NM_000038.6	NP_000029.2:p.(Arg924Ter)	NC_000005.9:g.112174061A>T	(Likely) pathogenic	1 lab	eabebbf026
1:227174362 COQ8A T>G	1	227174362	227174362	T	G	COQ8A	c.1868T>G	NM_020247.4	NP_064632.2:p.(Leu623Arg)	NC_000001.10:g.227174362T>G	VUS	1 lab	eac0d8224f
2:32353549 SPAST G>C	2	32353549	32353549	G	C	SPAST	c.1245+1G>C	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32353549G>C	(Likely) pathogenic	1 lab	eac0e6dc01
1:5934566 NPHP4 G>A	1	5934566	5934566	G	A	NPHP4	c.3196C>T	NM_015102.3	NP_055917.1:p.(Gln1066Ter)	NC_000001.10:g.5934566G>A	(Likely) pathogenic	1 lab	eac4d1d7b9
20:62046460 KCNQ2 CT>C	20	62046460	62046463	CT	C	KCNQ2	c.1320del	NM_172107.4	NP_742105.1:p.(Asp441IlefsTer23)	NC_000020.10:g.62046463del	(Likely) pathogenic	1 lab	eac6b0b8d2
2:47705428 MSH2 C>G	2	47705428	47705428	C	G	MSH2	c.2228C>G	NM_000251.3	NP_000242.1:p.(Ser743Ter)	NC_000002.11:g.47705428C>G	(Likely) pathogenic	1 lab	eac88b1ac5
5:112177233 APC A>G	5	112177233	112177233	A	G	APC	c.5942A>G	NM_000038.6	NP_000029.2:p.(Asn1981Ser)	NC_000005.9:g.112177233A>G	(Likely) benign	1 lab	eaca3d4904
21:43802344 TMPRSS3 C>A	21	43802344	43802344	C	A	TMPRSS3	c.783-1G>T	NM_024022.3	NP_076927.1:p.?	NC_000021.8:g.43802344C>A	(Likely) pathogenic	1 lab	eacf2c5c28
15:51763563 DMXL2 G>A	15	51763563	51763563	G	A	DMXL2	c.7249C>T	NM_001174116.1	NP_001167587.1:p.(Arg2417Cys)	NC_000015.9:g.51763563G>A	(Likely) benign	1 lab	ead465c50d
12:81063262 MISSING G>A	12	81063262	81063262	G	A	MISSING				NC_000012.11:g.81063262G>A	(Likely) benign	1 lab	ead641078f
1:156106975 LMNA G>C	1	156106975	156106975	G	C	LMNA	c.1560G>C	NM_170707.3	NP_733821.1:p.(Trp520Cys)	NC_000001.10:g.156106975G>C	VUS	1 lab	ead8479c8e
1:201328767 TNNT2 T>A	1	201328767	201328767	T	A	TNNT2	c.805A>T	NM_001001430.2	NP_001001430.1:p.(Asn269Tyr)	NC_000001.10:g.201328767T>A	(Likely) benign	1 lab	eada8563f4
16:23392048 SCNN1B C>T	16	23392048	23392048	C	T	SCNN1B				NC_000016.9:g.23392048C>T	(Likely) pathogenic	1 lab	eadf064074
17:78169374 CARD14 C>T	17	78169374	78169374	C	T	CARD14	c.1517C>T	NM_024110.4	NP_077015.2:p.(Pro506Leu)	NC_000017.10:g.78169374C>T	(Likely) benign	1 lab	173fcf90db
14:51401903 PYGL G>A	14	51401903	51401903	G	A	PYGL	c.346C>T	NM_002863.5	NP_002854.3:p.(Leu116Phe)	NC_000014.8:g.51401903G>A	VUS	1 lab	eae5cf004b
20:31384635 DNMT3B T>C	20	31384635	31384635	T	C	DNMT3B	c.1337T>C	NM_006892.3	NP_008823.1:p.(Phe446Ser)	NC_000020.10:g.31384635T>C	VUS	1 lab	eaeaffcdeb
17:41063253 G6PC1 G>A	17	41063253	41063253	G	A	G6PC1	c.884G>A	NM_000151.4	NP_000142.2:p.(Arg295His)	NC_000017.10:g.41063253G>A	(Likely) pathogenic	1 lab	eaef3e29ac
10:88476106 LDB3 G>C	10	88476106	88476106	G	C	LDB3	c.1254G>C	NM_007078.2	NP_009009.1:p.(Pro418=)	NC_000010.10:g.88476106G>C	(Likely) benign	1 lab	eaefc940f9
2:227946863 COL4A4 G>GC	2	227946863	227946867	G	GC	COL4A4	c.1663dup	NM_000092.4	NP_000083.3:p.(Ala555GlyfsTer4)	NC_000002.11:g.227946867dup	(Likely) pathogenic	1 lab	eaf3801fb8
11:47359015 MYBPC3 C>T	11	47359015	47359015	C	T	MYBPC3	c.2529G>A	NM_000256.3	NP_000247.2:p.(Glu843=)	NC_000011.9:g.47359015C>T	(Likely) benign	1 lab	eaf53a54d5
2:227920804 COL4A4 C>T	2	227920804	227920804	C	T	COL4A4	c.2573G>A	NM_000092.4	NP_000083.3:p.(Gly858Glu)	NC_000002.11:g.227920804C>T	(Likely) pathogenic	1 lab	174055043f
2:179517078 TTN G>A	2	179517078	179517078	G	A	TTN	c.39128-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179517078G>A	(Likely) benign	1 lab	eafa439d35
2:179582881 TTN C>A	2	179582881	179582881	C	A	TTN	c.24852G>T	NM_001267550.2	NP_001254479.2:p.(Gln8284His)	NC_000002.11:g.179582881C>A	(Likely) benign	1 lab	eb03f51935
17:62024451 SCN4A C>T	17	62024451	62024451	C	T	SCN4A	c.3395G>A	NM_000334.4	NP_000325.4:p.(Arg1132Gln)	NC_000017.10:g.62024451C>T	(Likely) pathogenic	1 lab	eb0539fb2c
16:21763275 OTOA G>C	16	21763275	21763275	G	C	OTOA				NC_000016.9:g.21763275G>C	VUS	1 lab	eb0a320a7c
2:32352023 SPAST A>C	2	32352023	32352023	A	C	SPAST	c.1105A>C	NM_014946.4	NP_055761.2:p.(Thr369Pro)	NC_000002.11:g.32352023A>C	VUS	1 lab	eb0aaea403
2:167168149 SCN9A T>C	2	167168149	167168149	T	C	SCN9A	c.118A>G	NM_002977.3	NP_002968.1:p.(Lys40Glu)	NC_000002.11:g.167168149T>C	VUS	1 lab	eb0e288a3c
12:49433627 KMT2D G>A	12	49433627	49433627	G	A	KMT2D	c.7926C>T	NM_003482.3	NP_003473.3:p.(Val2642=)	NC_000012.11:g.49433627G>A	(Likely) benign	1 lab	174b39d590
15:44175989 FRMD5 G>T	15	44175989	44175989	G	T	FRMD5	c.1047C>A	NM_032892.5	NP_116281.2:p.(Ser349Arg)	NC_000015.9:g.44175989G>T	(Likely) pathogenic	1 lab	eb10d4ce3f
X:154133099 F8 G>C	X	154133099	154133099	G	C	F8	c.5573C>G	NM_000132.3	NP_000123.1:p.(Ser1858Cys)	NC_000023.10:g.154133099G>C	(Likely) pathogenic	1 lab	174cbb3854
19:4099326 MAP2K2 C>A	19	4099326	4099326	C	A	MAP2K2	c.792G>T	NM_030662.4	NP_109587.1:p.(Arg264Ser)	NC_000019.9:g.4099326C>A	VUS	1 lab	eb133f3426
10:73724266 CHST3 C>G	10	73724266	73724266	C	G	CHST3	c.-294C>G	NM_004273.4	NP_004264.2:p.?	NC_000010.10:g.73724266C>G	(Likely) benign	1 lab	eb1bda5f21
9:135781184 TSC1 ACT>A	9	135781184	135781189	ACT	A	TSC1	c.1779_1780del	NM_000368.4	NP_000359.1:p.(Arg593SerfsTer12)	NC_000009.11:g.135781188_135781189del	(Likely) pathogenic	1 lab	eb1c1c2059
8:2007367 MYOM2 G>C	8	2007367	2007367	G	C	MYOM2	c.653+1G>C	NM_003970.4	NP_003961.3:p.?	NC_000008.10:g.2007367G>C	VUS	1 lab	eb1ea40963
3:38835290 SCN10A G>A	3	38835290	38835290	G	A	SCN10A	c.212C>T	NM_006514.3	NP_006505.3:p.(Pro71Leu)	NC_000003.11:g.38835290G>A	VUS	1 lab	eb21976876
5:112155046 APC G>T	5	112155046	112155046	G	T	APC	c.1312+5G>T	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112155046G>T	(Likely) pathogenic	1 lab	eb2414ae78
6:143093429 HIVEP2 C>T	6	143093429	143093429	C	T	HIVEP2	c.2447G>A	NM_006734.4	NP_006725.3:p.(Arg816Lys)	NC_000006.11:g.143093429C>T	VUS	1 lab	15c4fdfcfd
7:140485588 BRAF G>A	7	140485588	140485588	G	A	BRAF	c.1177+1760C>T	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140485588G>A	(Likely) benign	1 lab	eb2aa0bf8f
3:37089168 MLH1 T>G	3	37089168	37089168	T	G	MLH1	c.1890T>G	NM_000249.4	NP_000240.1:p.(Ile630Met)	NC_000003.11:g.37089168T>G	VUS	1 lab	eb2b33e4e5
9:713108 KANK1 G>C	9	713108	713108	G	C	KANK1	c.2342G>C	NM_015158.4	NP_055973.2:p.(Cys781Ser)	NC_000009.11:g.713108G>C	(Likely) benign	1 lab	174da292b4
X:46713160 RP2 C>T	X	46713160	46713160	C	T	RP2	c.352C>T	NM_006915.2	NP_008846.2:p.(Arg118Cys)	NC_000023.10:g.46713160C>T	(Likely) pathogenic	1 lab	eb2eea203c
1:101456043 DPH5 T>C	1	101456043	101456043	T	C	DPH5	c.779A>G	NM_015958.3	NP_057042.2:p.(His260Arg)	NC_000001.10:g.101456043T>C	(Likely) pathogenic	1 lab	eb32048392
1:226127478 LEFTY2 G>A	1	226127478	226127478	G	A	LEFTY2	c.475C>T	NM_003240.5	NP_003231.2:p.(Arg159Cys)	NC_000001.10:g.226127478G>A	(Likely) benign	1 lab	174f7a4c33
12:70049505 BEST3 G>A	12	70049505	70049505	G	A	BEST3	c.1189C>T	NM_032735.3	NP_116124.2:p.(Arg397Trp)	NC_000012.11:g.70049505G>A	VUS	1 lab	eb35d63be6
2:167129032 SCN9A A>T	2	167129032	167129032	A	T	SCN9A	c.3195T>A	NM_002977.3	NP_002968.1:p.(Gly1065=)	NC_000002.11:g.167129032A>T	(Likely) benign	1 lab	eb3686b5f6
19:10265693 DNMT1 T>C	19	10265693	10265693	T	C	DNMT1				NC_000019.9:g.10265693T>C	(Likely) pathogenic	1 lab	eb37dd13e0
1:237754083 RYR2 G>A	1	237754083	237754083	G	A	RYR2	c.3951G>A	NM_001035.3	NP_001026.2:p.(Thr1317=)	NC_000001.10:g.237754083G>A	(Likely) benign	1 lab	174fd06ab4
15:75673043 SIN3A G>A	15	75673043	75673043	G	A	SIN3A	c.3310C>T	NM_001145357.1	NP_001138829.1:p.(Arg1104Ter)	NC_000015.9:g.75673043G>A	VUS	1 lab	eb3f0d1579
1:21903039 ALPL C>T	1	21903039	21903039	C	T	ALPL	c.1214C>T	NM_000478.6	NP_000469.3:p.(Thr405Ile)	NC_000001.10:g.21903039C>T	VUS	1 lab	26a2b490ad
1:228645911 H2BC26 C>T	1	228645911	228645911	C	T	H2BC26	c.81C>T	NM_175055.3	NP_778225.1:p.(Gly27=)	NC_000001.10:g.228645911C>T	VUS	1 lab	15c64d7558
1:241676991 FH C>T	1	241676991	241676991	C	T	FH	c.290G>A	NM_000143.3	NP_000134.2:p.(Gly97Asp)	NC_000001.10:g.241676991C>T	VUS	1 lab	eb40c3e980
16:89616910 SPG7 A>T	16	89616910	89616910	A	T	SPG7	c.1672A>T	NM_003119.4	NP_003110.1:p.(Lys558Ter)	NC_000016.9:g.89616910A>T	(Likely) pathogenic	1 lab	eb40e691f5
2:73676847 MISSING TCAGA>T	2	73676847	73676854	TCAGA	T	MISSING				NC_000002.11:g.73676851_73676854del	(Likely) pathogenic	1 lab	eb491df505
22:24919665 UPB1 G>A	22	24919665	24919665	G	A	UPB1	c.995G>A	NM_016327.3	NP_057411.1:p.(Arg332His)	NC_000022.10:g.24919665G>A	VUS	1 lab	eb4b4bcc5c
2:32341231 SPAST G>C	2	32341231	32341231	G	C	SPAST	c.1048G>C	NM_014946.3	NP_055761.2:p.(Ala350Pro)	NC_000002.11:g.32341231G>C	VUS	1 lab	eb4c582cd9
3:113503074 ATP6V1A G>A	3	113503074	113503074	G	A	ATP6V1A	c.215G>A	NM_001690.3	NP_001681.2:p.(Gly72Asp)	NC_000003.11:g.113503074G>A	VUS	1 lab	eb4cdaabb1
2:241712663 KIF1A G>A	2	241712663	241712663	G	A	KIF1A	c.1048C>T	NM_001244008.1	NP_001230937.1:p.(Arg350Trp)	NC_000002.11:g.241712663G>A	VUS	1 lab	eb50459c9f
6:6145692 F13A1 C>T	6	6145692	6145692	C	T	F13A1	c.*160G>A	NM_000129.3	NP_000120.2:p.?	NC_000006.11:g.6145692C>T	(Likely) benign	1 lab	eb51cab059
12:89885842 POC1B A>G	12	89885842	89885842	A	G	POC1B	c.323T>C	NM_172240.2	NP_758440.1:p.(Val108Ala)	NC_000012.11:g.89885842A>G	(Likely) pathogenic	1 lab	eb52c3a5fc
17:48141423 ITGA3 C>T	17	48141423	48141423	C	T	ITGA3	c.207-18C>T	NM_002204.4	NP_002195.1:p.?	NC_000017.10:g.48141423C>T	(Likely) benign	1 lab	174fe27682
18:19395603 MIB1 C>T	18	19395603	19395603	C	T	MIB1	c.1506C>T	NM_020774.3	NP_065825.1:p.(His502=)	NC_000018.9:g.19395603C>T	(Likely) benign	1 lab	349e656d07
8:37630398 PLPBP G>A	8	37630398	37630398	G	A	PLPBP	c.445G>A	NM_007198.4	NP_009129.1:p.(Gly149Arg)	NC_000008.10:g.37630398G>A	VUS	1 lab	eb54d98cb7
5:167674933 TENM2 C>T	5	167674933	167674933	C	T	TENM2	c.6962C>T	NM_001122679.1	NP_001116151.1:p.(Thr2321Met)	NC_000005.9:g.167674933C>T	VUS	1 lab	eb564bd824
12:6464581 SCNN1A C>T	12	6464581	6464581	C	T	SCNN1A	c.1000G>A	NM_001038.5	NP_001029.1:p.(Ala334Thr)	NC_000012.11:g.6464581C>T	(Likely) benign	1 lab	eb5ed8042e
3:37061907 MLH1 G>T	3	37061907	37061907	G	T	MLH1	c.991G>T	NM_000249.4	NP_000240.1:p.(Glu331Ter)	NC_000003.11:g.37061907G>T	(Likely) pathogenic	1 lab	eb62c7926d
19:1220466 STK11 GG>T	19	1220466	1220467	GG	T	STK11	c.559_560delinsT	NM_000455.4	NP_000446.1:p.(Gly187LeufsTer100)	NC_000019.9:g.1220466_1220467delinsT	(Likely) pathogenic	1 lab	eb6911b15e
2:2327939 MYT1L T>C	2	2327939	2327939	T	C	MYT1L	c.-521+4A>G	NM_001329845.1	NP_001316774.1:p.?	NC_000002.11:g.2327939T>C	(Likely) benign	1 lab	15c6a117d7
2:167262286 SCN7A G>T	2	167262286	167262286	G	T	SCN7A	c.4853C>A	NM_002976.4	NP_002967.2:p.(Thr1618Asn)	NC_000002.11:g.167262286G>T	VUS	1 lab	eb6f46291e
4:185593438 PRIMPOL C>G	4	185593438	185593438	C	G	PRIMPOL	c.668C>G	NM_152683.4	NP_689896.1:p.(Pro223Arg)	NC_000004.11:g.185593438C>G	VUS	1 lab	eb6f58528e
3:38768574 SCN10A T>G	3	38768574	38768574	T	G	SCN10A	c.2641-31A>C	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38768574T>G	VUS	1 lab	eb71c299ae
15:99250854 IGF1R C>T	15	99250854	99250854	C	T	IGF1R	c.158C>T	NM_000875.5	NP_000866.1:p.(Thr53Met)	NC_000015.9:g.99250854C>T	(Likely) pathogenic	1 lab	eb7433ad85
10:102781611 PDZD7 G>A	10	102781611	102781611	G	A	PDZD7	c.811C>T	NM_001195263.1	NP_001182192.1:p.(His271Tyr)	NC_000010.10:g.102781611G>A	VUS	1 lab	eb7458c6e8
10:104941092 NT5C2 C>CA	10	104941092	104941106	C	CA	NT5C2	c.-993-8dup	NM_001351187.1	NP_001338116.1:p.?	NC_000010.10:g.104941106dup	(Likely) benign	1 lab	34b5994f13
3:151055862 MED12L G>T	3	151055862	151055862	G	T	MED12L	c.2251-11985G>T	NM_001393769.1	NP_001380698.1:p.?	NC_000003.11:g.151055862G>T	(Likely) pathogenic	1 lab	eb753eaeaf
3:37045948 MLH1 TG>T	3	37045948	37045950	TG	T	MLH1	c.365del	NM_000249.3	NP_000240.1:p.(Gly122GlufsTer14)	NC_000003.11:g.37045950del	(Likely) pathogenic	1 lab	eb771642b7
7:128486873 FLNC A>G	7	128486873	128486873	A	G	FLNC	c.4202A>G	NM_001458.5	NP_001449.3:p.(Lys1401Arg)	NC_000007.13:g.128486873A>G	VUS	1 lab	eb7982aa59
10:124215565 ARMS2 T>C	10	124215565	124215565	T	C	ARMS2	c.298-858T>C	NM_001099667.2	NP_001093137.1:p.?	NC_000010.10:g.124215565T>C	(Likely) benign	1 lab	eb7aa4762e
14:24546585 CPNE6 C>T	14	24546585	24546585	C	T	CPNE6	c.1687C>T	NM_001280558.1	NP_001267487.1:p.(Arg563Ter)	NC_000014.8:g.24546585C>T	VUS	1 lab	eb7cb6c7ea
X:41203490 DDX3X A>G	X	41203490	41203490	A	G	DDX3X	c.865-2A>G	NM_001356.3	NP_001347.3:p.?	NC_000023.10:g.41203490A>G	(Likely) pathogenic	1 lab	eb7d96c86f
11:47359039 MYBPC3 GC>AA	11	47359039	47359040	GC	AA	MYBPC3	c.2504_2505delinsTT	NM_000256.3	NP_000247.2:p.(Arg835Leu)	NC_000011.9:g.47359039_47359040delinsAA	VUS	1 lab	eb8644659a
2:179428649 TTN G>A	2	179428649	179428649	G	A	TTN	c.82210C>T	NM_001267550.2	NP_001254479.2:p.(His27404Tyr)	NC_000002.11:g.179428649G>A	VUS	1 lab	eb87562573
3:182755144 MCCC1 T>C	3	182755144	182755144	T	C	MCCC1	c.1456A>G	NM_020166.4	NP_064551.3:p.(Thr486Ala)	NC_000003.11:g.182755144T>C	VUS	1 lab	eb88b2d926
1:22190579 HSPG2 C>T	1	22190579	22190579	C	T	HSPG2	c.4740+14G>A	NM_005529.6	NP_005520.4:p.?	NC_000001.10:g.22190579C>T	(Likely) benign	1 lab	34b61cb8c8
5:112128314 APC T>C	5	112128314	112128314	T	C	APC	c.729+88T>C	NM_000038.5	NP_000029.2:p.?	NC_000005.9:g.112128314T>C	(Likely) benign	1 lab	eb8bc95904
5:131729866 SLC22A5 T>G	5	131729866	131729866	T	G	SLC22A5	c.1659-11T>G	NM_001308122.1	NP_001295051.1:p.?	NC_000005.9:g.131729866T>G	(Likely) benign	1 lab	eb8d26091f
21:37833751 CLDN14 G>A	21	37833751	37833751	G	A	CLDN14	c.243C>T	NM_144492.2	NP_652763.1:p.(Arg81=)	NC_000021.8:g.37833751G>A	(Likely) benign	1 lab	eb8f832cfc
22:29121083 CHEK2 T>G	22	29121083	29121083	T	G	CHEK2	c.474A>C	NM_007194.4	NP_009125.1:p.(Ala158=)	NC_000022.10:g.29121083T>G	(Likely) benign	1 lab	eb90f868d7
22:51160325 MISSING CTG>C	22	51160325	51160327	CTG	C	MISSING				NC_000022.10:g.51160326_51160327del	(Likely) pathogenic	1 lab	eb92669949
1:161284203 SDHC C>T	1	161284203	161284203	C	T	SDHC	c.8C>T	NM_003001.3	NP_002992.1:p.(Ala3Val)	NC_000001.10:g.161284203C>T	(Likely) benign	1 lab	eb934ed4ac
16:30133325 MAPK3 G>A	16	30133325	30133325	G	A	MAPK3	c.173C>T	NM_002746.2	NP_002737.2:p.(Ser58Leu)	NC_000016.9:g.30133325G>A	VUS	1 lab	eb95935a68
5:35857308 IL7R T>TC	5	35857308	35857309	T	TC	IL7R	c.82+147_82+148insC	NM_002185.2	NP_002176.2:p.?	NC_000005.9:g.35857308_35857309insC	(Likely) benign	1 lab	1756008f41
2:167327151 SCN7A A>C	2	167327151	167327151	A	C	SCN7A	c.638T>G	NM_002976.4	NP_002967.2:p.(Ile213Ser)	NC_000002.11:g.167327151A>C	VUS	1 lab	eb98c2626a
X:69673621 DLG3 G>T	X	69673621	69673621	G	T	DLG3	c.1280G>T	NM_021120.4	NP_066943.2:p.(Arg427Leu)	NC_000023.10:g.69673621G>T	VUS	1 lab	eb98ea35f4
22:37331744 CSF2RB C>T	22	37331744	37331744	C	T	CSF2RB	c.1464+15C>T	NM_000395.3	NP_000386.1:p.?	NC_000022.10:g.37331744C>T	(Likely) benign	1 lab	175602d346
4:187522421 FAT1 A>G	4	187522421	187522421	A	G	FAT1	c.11640+2T>C	NM_005245.4	NP_005236.2:p.?	NC_000004.11:g.187522421A>G	(Likely) pathogenic	1 lab	17572985ae
22:19711503 GP1BB G>A	22	19711503	19711503	G	A	GP1BB	c.137G>A	NM_000407.5	NP_000398.1:p.(Trp46Ter)	NC_000022.10:g.19711503G>A	(Likely) pathogenic	1 lab	eb99b4c131
6:75843684 COL12A1 C>T	6	75843684	75843684	C	T	COL12A1	c.5554G>A	NM_004370.5	NP_004361.3:p.(Val1852Met)	NC_000006.11:g.75843684C>T	VUS	1 lab	eba463ce95
2:39240664 SOS1 A>G	2	39240664	39240664	A	G	SOS1	c.2104T>C	NM_005633.3	NP_005624.2:p.(Tyr702His)	NC_000002.11:g.39240664A>G	(Likely) pathogenic	1 lab	eba5bb825c
1:43396763 SLC2A1 T>C	1	43396763	43396763	T	C	SLC2A1	c.229A>G	NM_006516.4	NP_006507.2:p.(Met77Val)	NC_000001.10:g.43396763T>C	VUS	1 lab	eba74df66a
12:5021629 KCNA1 C>A	12	5021629	5021629	C	A	KCNA1	c.1085C>A	NM_000217.2	NP_000208.2:p.(Ala362Asp)	NC_000012.11:g.5021629C>A	VUS	1 lab	eba91b812d
16:9857383 GRIN2A T>A	16	9857383	9857383	T	A	GRIN2A	c.4018A>T	NM_000833.4	NP_000824.1:p.(Lys1340Ter)	NC_000016.9:g.9857383T>A	(Likely) pathogenic	1 lab	ebb07059c3
16:68849392 CDH1 T>C	16	68849392	68849392	T	C	CDH1	c.1321-26T>C	NM_004360.4	NP_004351.1:p.?	NC_000016.9:g.68849392T>C	(Likely) benign	1 lab	ebb0d089bb
2:5833350 SOX11 A>G	2	5833350	5833350	A	G	SOX11	c.497A>G	NM_003108.4	NP_003099.1:p.(Lys166Arg)	NC_000002.11:g.5833350A>G	VUS	1 lab	15cfd4a7c2
5:1254526 TERT T>C	5	1254526	1254526	T	C	TERT	c.3252A>G	NM_198253.2	NP_937983.2:p.(Arg1084=)	NC_000005.9:g.1254526T>C	(Likely) benign	1 lab	175a2bd0d2
12:115111969 TBX3 C>T	12	115111969	115111969	C	T	TBX3	c.1770+1G>A	NM_016569.3	NP_057653.3:p.?	NC_000012.11:g.115111969C>T	(Likely) pathogenic	1 lab	ebb8101bc1
3:38648062 SCN5A C>T	3	38648062	38648062	C	T	SCN5A	c.1140+98G>A	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38648062C>T	(Likely) benign	1 lab	ebb8345bf1
22:21345941 LZTR1 C>A	22	21345941	21345941	C	A	LZTR1	c.816C>A	NM_006767.4	NP_006758.2:p.(His272Gln)	NC_000022.10:g.21345941C>A	VUS	1 lab	ebba590b71
5:171881281 SH3PXD2B C>T	5	171881281	171881281	C	T	SH3PXD2B	c.75+1G>A	NM_001017995.2	NP_001017995.1:p.?	NC_000005.9:g.171881281C>T	(Likely) pathogenic	1 lab	ebbf804e92
12:133251939 POLE G>A	12	133251939	133251939	G	A	POLE	c.1226+45C>T	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133251939G>A	(Likely) benign	1 lab	ebc0609358
16:31012318 STX1B TG>T	16	31012318	31012320	TG	T	STX1B				NC_000016.9:g.31012320del	(Likely) pathogenic	1 lab	ebc3bb4417
9:139403240 NOTCH1 T>TG	9	139403240	139403244	T	TG	NOTCH1	c.3171+81dup	NM_017617.3	NP_060087.3:p.?	NC_000009.11:g.139403244dup	(Likely) benign	1 lab	ebc3d3068d
2:73677492 MISSING G>A	2	73677492	73677492	G	A	MISSING				NC_000002.11:g.73677492G>A	(Likely) benign	1 lab	ebc568a67f
2:47703506 MSH2 G>A	2	47703506	47703506	G	A	MSH2	c.2006G>A	NM_000251.2	NP_000242.1:p.(Gly669Asp)	NC_000002.11:g.47703506G>A	VUS	1 lab	ebc7caca1d
22:41513283 EP300 C>T	22	41513283	41513283	C	T	EP300	c.187C>T	NM_001429.3	NP_001420.2:p.(Gln63Ter)	NC_000022.10:g.41513283C>T	(Likely) pathogenic	1 lab	ebca1afe3b
13:113772855 F7 G>A	13	113772855	113772855	G	A	F7	c.934G>A	NM_000131.4	NP_000122.1:p.(Val312Met)	NC_000013.10:g.113772855G>A	(Likely) pathogenic	1 lab	ebccd9dc72
13:32910891 BRCA2 G>T	13	32910891	32910891	G	T	BRCA2	c.2399G>T	NM_000059.3	NP_000050.2:p.(Gly800Val)	NC_000013.10:g.32910891G>T	(Likely) benign	1 lab	ebcd3a2d46
2:48033424 MSH6 C>CATTA	2	48033424	48033428	C	CATTA	MSH6	c.3729_3732dup	NM_000179.3	NP_000170.1:p.(Phe1245IlefsTer31)	NC_000002.11:g.48033425_48033428dup	(Likely) pathogenic	1 lab	ebce03998e
14:61115375 SIX1 C>T	14	61115375	61115375	C	T	SIX1	c.533G>A	NM_005982.3	NP_005973.1:p.(Arg178Lys)	NC_000014.8:g.61115375C>T	VUS	1 lab	ebcfc549fa
2:167273388 SCN7A A>G	2	167273388	167273388	A	G	SCN7A	c.3243T>C	NM_002976.3	NP_002967.2:p.(Ala1081=)	NC_000002.11:g.167273388A>G	(Likely) benign	1 lab	ebd02cfa33
18:28672192 DSC2 C>T	18	28672192	28672192	C	T	DSC2	c.226G>A	NM_004949.5	NP_004940.1:p.(Asp76Asn)	NC_000018.9:g.28672192C>T	VUS	1 lab	15d7b7235c
11:17517235 USH1C A>G	11	17517235	17517235	A	G	USH1C	c.2547-11T>C	NM_153676.3	NP_710142.1:p.?	NC_000011.9:g.17517235A>G	(Likely) benign	1 lab	ebd1856fc9
1:237886513 RYR2 C>T	1	237886513	237886513	C	T	RYR2	c.10640C>T	NM_001035.2	NP_001026.2:p.(Thr3547Met)	NC_000001.10:g.237886513C>T	VUS	1 lab	ebd26462fd
X:12906779 TLR7 C>A	X	12906779	12906779	C	A	TLR7	c.*2C>A	NM_016562.4	NP_057646.1:p.?	NC_000023.10:g.12906779C>A	(Likely) benign	1 lab	ebd451e43a
X:151358182 GABRA3 T>C	X	151358182	151358182	T	C	GABRA3	c.1143+20A>G	NM_000808.4	NP_000799.1:p.?	NC_000023.10:g.151358182T>C	(Likely) benign	1 lab	17607039ef
14:102494066 DYNC1H1 G>T	14	102494066	102494066	G	T	DYNC1H1				NC_000014.8:g.102494066G>T	(Likely) pathogenic	1 lab	ebd621cbcc
2:98986505 CNGA3 C>T	2	98986505	98986505	C	T	CNGA3	c.67C>T	NM_001298.2	NP_001289.1:p.(Arg23Ter)	NC_000002.11:g.98986505C>T	(Likely) pathogenic	1 lab	ebd657168c
7:92762625 SAMD9L T>C	7	92762625	92762625	T	C	SAMD9L	c.2660A>G	NM_152703.5	NP_689916.2:p.(Tyr887Cys)	NC_000007.13:g.92762625T>C	VUS	1 lab	15d84dbae3
X:133551304 PHF6 A>G	X	133551304	133551304	A	G	PHF6	c.940A>G	NM_001015877.1	NP_001015877.1:p.(Ile314Val)	NC_000023.10:g.133551304A>G	(Likely) pathogenic	1 lab	ebe4fc5a55
19:54386433 PRKCG G>C	19	54386433	54386433	G	C	PRKCG				NC_000019.9:g.54386433G>C	(Likely) pathogenic	1 lab	ebe761ea29
2:167289266 SCN7A A>C	2	167289266	167289266	A	C	SCN7A	c.2158-4T>G	NM_002976.4	NP_002967.2:p.?	NC_000002.11:g.167289266A>C	(Likely) benign	1 lab	ebe872e6cf
1:94474321 ABCA4 G>A	1	94474321	94474321	G	A	ABCA4	c.5821C>T	NM_000350.2	NP_000341.2:p.(His1941Tyr)	NC_000001.10:g.94474321G>A	VUS	1 lab	ebe9313426
9:35801930 NPR2 CCA>C	9	35801930	35801932	CCA	C	NPR2	c.1566_1567del	NM_003995.3	NP_003986.2:p.(Ser523LeufsTer32)	NC_000009.11:g.35801931_35801932del	(Likely) pathogenic	1 lab	ebe9556cac
7:87056096 ABCB4 C>A	7	87056096	87056096	C	A	ABCB4	c.2034G>T	NM_018849.3	NP_061337.1:p.(Gln678His)	NC_000007.13:g.87056096C>A	VUS	1 lab	15d9764c01
1:152276976 FLG G>A	1	152276976	152276976	G	A	FLG	c.10386C>T	NM_002016.2	NP_002007.1:p.(Ser3462=)	NC_000001.10:g.152276976G>A	(Likely) benign	1 lab	ebf00ddffd
2:179623939 TTN T>C	2	179623939	179623939	T	C	TTN	c.10115-40A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179623939T>C	(Likely) benign	1 lab	ebf12975ef
19:36582214 WDR62 G>A	19	36582214	36582214	G	A	WDR62	c.2146+1G>A	NM_001083961.1	NP_001077430.1:p.?	NC_000019.9:g.36582214G>A	(Likely) pathogenic	1 lab	ebf2313cb1
18:77193667 NFATC1 C>T	18	77193667	77193667	C	T	NFATC1	c.1315C>T	NM_001278669.1	NP_001265598.1:p.(Arg439Ter)	NC_000018.9:g.77193667C>T	VUS	1 lab	ebf4a23cda
22:21344703 LZTR1 C>G	22	21344703	21344703	C	G	LZTR1	c.680C>G	NM_006767.4	NP_006758.2:p.(Ser227Cys)	NC_000022.10:g.21344703C>G	VUS	1 lab	ebf589b5ec
18:2775837 SMCHD1 C>T	18	2775837	2775837	C	T	SMCHD1	c.5281C>T	NM_015295.2	NP_056110.2:p.(Arg1761Cys)	NC_000018.9:g.2775837C>T	VUS	1 lab	ebf7f82ef9
1:152282624 FLG C>G	1	152282624	152282624	C	G	FLG	c.4738G>C	NM_002016.2	NP_002007.1:p.(Glu1580Gln)	NC_000001.10:g.152282624C>G	(Likely) benign	1 lab	ebfabe76c4
20:389393 RBCK1 C>A	20	389393	389393	C	A	RBCK1	c.11C>A	NM_006462.6	NP_006453.1:p.(Ala4Asp)	NC_000020.10:g.389393C>A	(Likely) benign	1 lab	17653b3340
15:77329400 PSTPIP1 G>A	15	77329400	77329400	G	A	PSTPIP1	c.1134G>A	NM_003978.3	NP_003969.2:p.(Leu378=)	NC_000015.9:g.77329400G>A	(Likely) benign	1 lab	17661b173a
13:32911410 BRCA2 C>A	13	32911410	32911410	C	A	BRCA2	c.2918C>A	NM_000059.3	NP_000050.2:p.(Ser973Ter)	NC_000013.10:g.32911410C>A	(Likely) pathogenic	1 lab	1766a17478
1:201752682 NAV1 C>A	1	201752682	201752682	C	A	NAV1	c.2506C>A	NM_020443.4	NP_065176.3:p.(Pro836Thr)	NC_000001.10:g.201752682C>A	VUS	1 lab	ebffaca98d
1:91404863 ZNF644 C>G	1	91404863	91404863	C	G	ZNF644	c.2048G>C	NM_201269.2	NP_958357.1:p.(Arg683Thr)	NC_000001.10:g.91404863C>G	VUS	1 lab	ebffbac506
X:18660219 RS1 T>TG	X	18660219	18660225	T	TG	RS1	c.579dup	NM_000330.4	NP_000321.1:p.(Ile194HisfsTer70)	NC_000023.10:g.18660225dup	(Likely) pathogenic	1 lab	ec005d385f
6:151726923 RMND1 G>T	6	151726923	151726923	G	T	RMND1	c.1249C>A	NM_017909.4	NP_060379.2:p.(Arg417=)	NC_000006.11:g.151726923G>T	(Likely) benign	1 lab	176b362a20
14:23866227 MYH6 G>A	14	23866227	23866227	G	A	MYH6	c.2113C>T	NM_002471.3	NP_002462.2:p.(Arg705Cys)	NC_000014.8:g.23866227G>A	VUS	1 lab	ec03ffceb0
8:120809941 TAF2 T>A	8	120809941	120809941	T	A	TAF2	c.938A>T	NM_003184.4	NP_003175.2:p.(Tyr313Phe)	NC_000008.10:g.120809941T>A	VUS	1 lab	15dd716451
17:18024167 MYO15A T>TC	17	18024167	18024168	T	TC	MYO15A	c.2054dup	NM_016239.4	NP_057323.3:p.(Leu687ProfsTer293)	NC_000017.10:g.18024168dup	(Likely) pathogenic	1 lab	ec10cf7ca6
11:121000879 TECTA C>T	11	121000879	121000879	C	T	TECTA				NC_000011.9:g.121000879C>T	(Likely) benign	1 lab	ec11cd9404
13:32911956 BRCA2 CTT>C	13	32911956	32911958	CTT	C	BRCA2	c.3465_3466del	NM_000059.4	NP_000050.3:p.(Ser1156Ter)	NC_000013.10:g.32911957_32911958del	(Likely) pathogenic	1 lab	15dd7e8f19
4:114280336 ANK2 C>T	4	114280336	114280336	C	T	ANK2	c.10562C>T	NM_001148.4	NP_001139.3:p.(Pro3521Leu)	NC_000004.11:g.114280336C>T	(Likely) benign	1 lab	ec13326f25
2:166911389 SCN1A A>G	2	166911389	166911389	A	G	SCN1A	c.474-113T>C	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166911389A>G	(Likely) benign	1 lab	176e402780
18:19102676 GREB1L G>A	18	19102676	19102676	G	A	GREB1L	c.5666G>A	NM_001142966.2	NP_001136438.1:p.(Arg1889His)	NC_000018.9:g.19102676G>A	(Likely) benign	1 lab	ec152ebb89
1:6185888 CHD5 G>C	1	6185888	6185888	G	C	CHD5	c.4109C>G	NM_015557.3	NP_056372.1:p.(Ser1370Ter)	NC_000001.10:g.6185888G>C	(Likely) pathogenic	1 lab	ec16efc60c
19:55668039 TNNI3 G>A	19	55668039	55668039	G	A	TNNI3	c.109-27C>T	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668039G>A	(Likely) benign	1 lab	ec19f9bacc
19:35741564 MISSING T>C	19	35741564	35741564	T	C	MISSING				NC_000019.9:g.35741564T>C	VUS	1 lab	ec1bb74ef8
2:48025864 MSH6 C>T	2	48025864	48025864	C	T	MSH6	c.742C>T	NM_000179.2	NP_000170.1:p.(Arg248Ter)	NC_000002.11:g.48025864C>T	(Likely) pathogenic	1 lab	ec1d3cd695
2:216269033 FN1 T>G	2	216269033	216269033	T	G	FN1	c.3253+79A>C	NM_212482.2	NP_997647.1:p.?	NC_000002.11:g.216269033T>G	(Likely) benign	1 lab	176fd0def0
16:67470730 ATP6V0D1 T>C	16	67470730	67470730	T	C	ATP6V0D1				NC_000016.9:g.67470730T>C	VUS	1 lab	ec22b340b8
2:228145543 COL4A3 C>T	2	228145543	228145543	C	T	COL4A3	c.2375-66C>T	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228145543C>T	(Likely) benign	1 lab	ec23fc0905
2:179511249 TTN G>A	2	179511249	179511249	G	A	TTN	c.40260C>T	NM_001267550.1	NP_001254479.1:p.(Pro13420=)	NC_000002.11:g.179511249G>A	(Likely) benign	1 lab	177183c4f7
16:21771945 OTOA C>G	16	21771945	21771945	C	G	OTOA	c.*84C>G	NM_144672.3	NP_653273.3:p.?	NC_000016.9:g.21771945C>G	(Likely) benign	1 lab	ec2d56d197
2:26698865 OTOF G>A	2	26698865	26698865	G	A	OTOF	c.2908C>T	NM_194248.2	NP_919224.1:p.(Arg970Cys)	NC_000002.11:g.26698865G>A	VUS	1 lab	ec2edfbdbf
16:74760182 FA2H C>T	16	74760182	74760182	C	T	FA2H	c.554G>A	NM_024306.4	NP_077282.3:p.(Trp185Ter)	NC_000016.9:g.74760182C>T	(Likely) pathogenic	1 lab	ec326040a2
17:17119768 FLCN T>C	17	17119768	17119768	T	C	FLCN	c.1226A>G	NM_144997.7	NP_659434.2:p.(Tyr409Cys)	NC_000017.10:g.17119768T>C	VUS	1 lab	ec373b244a
2:86459830 REEP1 TG>T	2	86459830	86459836	TG	T	REEP1	c.512del	NM_022912.2	NP_075063.1:p.(Pro171HisfsTer52)	NC_000002.11:g.86459836del	(Likely) pathogenic	1 lab	ec396a01d9
19:39195558 ACTN4 C>T	19	39195558	39195558	C	T	ACTN4	c.398-16C>T	NM_004924.4	NP_004915.2:p.?	NC_000019.9:g.39195558C>T	(Likely) benign	1 lab	ec39d64c2a
9:75403326 TMC1 C>G	9	75403326	75403326	C	G	TMC1	c.956C>G	NM_138691.2	NP_619636.2:p.(Thr319Ser)	NC_000009.11:g.75403326C>G	VUS	1 lab	ec3a0ce9ab
12:4488502 FGF23 G>T	12	4488502	4488502	G	T	FGF23	c.211+36C>A	NM_020638.3	NP_065689.1:p.?	NC_000012.11:g.4488502G>T	(Likely) benign	1 lab	cc264316f3
13:32954321 BRCA2 T>G	13	32954321	32954321	T	G	BRCA2	c.9256+39T>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32954321T>G	(Likely) benign	1 lab	ec3c7b4086
11:17583206 OTOG CA>C	11	17583206	17583207	CA	C	OTOG	c.1535-2del	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17583207del	(Likely) pathogenic	1 lab	ec3dacd80d
16:3900624 CREBBP G>A	16	3900624	3900624	G	A	CREBBP	c.472C>T	NM_004380.3	NP_004371.2:p.(Gln158Ter)	NC_000016.9:g.3900624G>A	(Likely) pathogenic	1 lab	ec3dc9fc22
14:36987066 NKX2-1 C>G	14	36987066	36987066	C	G	NKX2-1	c.623G>C	NM_001079668.2	NP_001073136.1:p.(Arg208Pro)	NC_000014.8:g.36987066C>G	VUS	1 lab	ec40727ad7
4:16008260 PROM1 T>TA	4	16008260	16008266	T	TA	PROM1	c.1354dup	NM_006017.2	NP_006008.1:p.(Tyr452LeufsTer13)	NC_000004.11:g.16008266dup	(Likely) pathogenic	1 lab	ec426e186b
7:151329204 PRKAG2 CAG>C	7	151329204	151329206	CAG	C	PRKAG2	c.703_704del	NM_016203.3	NP_057287.2:p.(Leu235GlyfsTer37)	NC_000007.13:g.151329205_151329206del	VUS	1 lab	ec4a2f743d
10:89725178 PTEN A>C	10	89725178	89725178	A	C	PTEN	c.1161A>C	NM_000314.8	NP_000305.3:p.(Pro387=)	NC_000010.10:g.89725178A>C	(Likely) benign	1 lab	ec4c3326c8
2:20131029 WDR35 C>T	2	20131029	20131029	C	T	WDR35	c.2997+1G>A	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20131029C>T	(Likely) pathogenic	1 lab	ec4e49486e
22:19969182 ARVCF C>T	22	19969182	19969182	C	T	ARVCF	c.448G>A	NM_001670.3	NP_001661.1:p.(Asp150Asn)	NC_000022.10:g.19969182C>T	(Likely) benign	1 lab	15e3a227bd
5:112175752 APC T>TA	5	112175752	112175753	T	TA	APC	c.4461_4462insA	NM_000038.6	NP_000029.2:p.(Leu1488IlefsTer26)	NC_000005.9:g.112175752_112175753insA	(Likely) pathogenic	1 lab	ec4fb08daa
19:36322316 NPHS1 C>T	19	36322316	36322316	C	T	NPHS1	c.3312-43G>A	NM_004646.3	NP_004637.1:p.?	NC_000019.9:g.36322316C>T	(Likely) benign	1 lab	ec4fe11242
5:52344610 ITGA2 A>G	5	52344610	52344610	A	G	ITGA2	c.630+10A>G	NM_002203.4	NP_002194.2:p.?	NC_000005.9:g.52344610A>G	(Likely) benign	1 lab	15e3ad48f2
13:113803515 F10 A>G	13	113803515	113803515	A	G	F10	c.1151A>G	NM_000504.3	NP_000495.1:p.(Tyr384Cys)	NC_000013.10:g.113803515A>G	(Likely) pathogenic	1 lab	ec5174f9a4
12:33031009 PKP2 C>T	12	33031009	33031009	C	T	PKP2	c.805G>A	NM_004572.3	NP_004563.2:p.(Gly269Arg)	NC_000012.11:g.33031009C>T	VUS	1 lab	ec52fdab21
X:18911778 PHKA2 A>C	X	18911778	18911778	A	C	PHKA2	c.3538-5T>G	NM_000292.3	NP_000283.1:p.?	NC_000023.10:g.18911778A>C	(Likely) benign	1 lab	15e49d07c2
3:142396909 PLS1 A>G	3	142396909	142396909	A	G	PLS1	c.533A>G	NM_002670.3	NP_002661.2:p.(Asp178Gly)	NC_000003.11:g.142396909A>G	VUS	1 lab	ec577ced55
1:150305615 PRPF3 G>A	1	150305615	150305615	G	A	PRPF3	c.673G>A	NM_004698.4	NP_004689.1:p.(Gly225Ser)	NC_000001.10:g.150305615G>A	VUS	1 lab	ec578c54e4
13:32911439 BRCA2 C>A	13	32911439	32911439	C	A	BRCA2	c.2947C>A	NM_000059.3	NP_000050.2:p.(Pro983Thr)	NC_000013.10:g.32911439C>A	(Likely) benign	1 lab	ec595851aa
22:41531867 EP300 C>T	22	41531867	41531867	C	T	EP300	c.1579C>T	NM_001429.3	NP_001420.2:p.(Leu527Phe)	NC_000022.10:g.41531867C>T	VUS	1 lab	ec5d70d417
2:167163472 SCN9A A>G	2	167163472	167163472	A	G	SCN9A	c.371T>C	NM_002977.3	NP_002968.1:p.(Val124Ala)	NC_000002.11:g.167163472A>G	VUS	1 lab	ec5dbbdf29
1:205180567 DSTYK G>T	1	205180567	205180567	G	T	DSTYK	c.97C>A	NM_015375.3	NP_056190.1:p.(Arg33Ser)	NC_000001.10:g.205180567G>T	VUS	1 lab	ec5dcda853
5:74706894 CERT1 T>C	5	74706894	74706894	T	C	CERT1	c.1256A>G	NM_001130105.1	NP_001123577.1:p.(Tyr419Cys)	NC_000005.9:g.74706894T>C	VUS	1 lab	ec65920fbd
1:201341172 TNNT2 G>A	1	201341172	201341172	G	A	TNNT2	c.53-3C>T	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201341172G>A	(Likely) benign	1 lab	ec6726ed18
8:38283708 FGFR1 C>A	8	38283708	38283708	C	A	FGFR1	c.677G>T	NM_023110.3	NP_075598.2:p.(Gly226Val)	NC_000008.10:g.38283708C>A	VUS	1 lab	17d87b6eec
10:75849853 VCL A>G	10	75849853	75849853	A	G	VCL	c.1249A>G	NM_014000.2	NP_054706.1:p.(Lys417Glu)	NC_000010.10:g.75849853A>G	VUS	1 lab	ec6c2db1d5
1:16269886 ZBTB17 G>A	1	16269886	16269886	G	A	ZBTB17	c.1697+8C>T	NM_001287603.1	NP_001274532.1:p.?	NC_000001.10:g.16269886G>A	(Likely) benign	1 lab	ec6c6212dd
13:52549102 ATP7B C>A	13	52549102	52549102	C	A	ATP7B	c.254G>T	NM_000053.4	NP_000044.2:p.(Gly85Val)	NC_000013.10:g.52549102C>A	(Likely) pathogenic	1 lab	1771cf678e
7:73461043 ELN G>T	7	73461043	73461043	G	T	ELN	c.589G>T	NM_000501.4	NP_000492.2:p.(Gly197Ter)	NC_000007.13:g.73461043G>T	(Likely) pathogenic	1 lab	ec748441aa
5:90016807 ADGRV1 C>T	5	90016807	90016807	C	T	ADGRV1	c.9679C>T	NM_032119.4	NP_115495.3:p.(Arg3227Ter)	NC_000005.9:g.90016807C>T	(Likely) pathogenic	1 lab	ec751aa197
4:79240196 FRAS1 C>G	4	79240196	79240196	C	G	FRAS1	c.2137+56C>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79240196C>G	(Likely) benign	1 lab	cc92dc94ef
2:167266218 SCN7A C>T	2	167266218	167266218	C	T	SCN7A	c.3939G>A	NM_002976.3	NP_002967.2:p.(Ala1313=)	NC_000002.11:g.167266218C>T	(Likely) benign	1 lab	ec77afb7fd
10:75854109 VCL A>G	10	75854109	75854109	A	G	VCL	c.1433A>G	NM_014000.2	NP_054706.1:p.(Asn478Ser)	NC_000010.10:g.75854109A>G	(Likely) benign	1 lab	ec7a317e16
1:216040360 USH2A C>T	1	216040360	216040360	C	T	USH2A				NC_000001.10:g.216040360C>T	(Likely) pathogenic	1 lab	ec7a670e64
10:73450293 CDH23 A>G	10	73450293	73450293	A	G	CDH23	c.2128A>G	NM_022124.5	NP_071407.4:p.(Ile710Val)	NC_000010.10:g.73450293A>G	VUS	1 lab	ec7d3f5220
3:121903266 CASR G>A	3	121903266	121903266	G	A	CASR	c.-353G>A	NM_001178065.1	NP_001171536.1:p.?	NC_000003.11:g.121903266G>A	(Likely) benign	1 lab	ec7ea45011
4:38798306 TLR1 T>C	4	38798306	38798306	T	C	TLR1	c.2147A>G	NM_003263.3	NP_003254.2:p.(His716Arg)	NC_000004.11:g.38798306T>C	VUS	1 lab	ec7f951782
X:107842038 COL4A5 G>A	X	107842038	107842038	G	A	COL4A5	c.1886G>A	NM_033380.2	NP_203699.1:p.(Gly629Asp)	NC_000023.10:g.107842038G>A	(Likely) pathogenic	1 lab	ec7fb13d6c
8:27632143 ESCO2 C>T	8	27632143	27632143	C	T	ESCO2	c.-17+19C>T	NM_001017420.2	NP_001017420.1:p.?	NC_000008.10:g.27632143C>T	(Likely) benign	1 lab	ec7fc37b1e
19:7125374 INSR T>C	19	7125374	7125374	T	C	INSR	c.3178A>G	NM_000208.2	NP_000199.2:p.(Asn1060Asp)	NC_000019.9:g.7125374T>C	VUS	1 lab	ec82110ce8
1:11210198 MTOR C>T	1	11210198	11210198	C	T	MTOR	c.4555G>A	NM_004958.3	NP_004949.1:p.(Ala1519Thr)	NC_000001.10:g.11210198C>T	(Likely) pathogenic	1 lab	ec83b3d12d
3:38926837 SCN11A G>A	3	38926837	38926837	G	A	SCN11A	c.3006C>T	NM_001349253.2	NP_001336182.1:p.(Gly1002=)	NC_000003.11:g.38926837G>A	(Likely) benign	1 lab	ec847fa996
6:157406028 ARID1B C>T	6	157406028	157406028	C	T	ARID1B	c.2270C>T	NM_020732.3	NP_065783.3:p.(Ala757Val)	NC_000006.11:g.157406028C>T	(Likely) pathogenic	1 lab	ecb087a473
12:88462400 CEP290 C>A	12	88462400	88462400	C	A	CEP290	c.6034G>T	NM_025114.3	NP_079390.3:p.(Asp2012Tyr)	NC_000012.11:g.88462400C>A	VUS	1 lab	ec8781dfb4
22:24143273 SMARCB1 G>T	22	24143273	24143273	G	T	SMARCB1	c.500+5G>T	NM_003073.5	NP_003064.2:p.?	NC_000022.10:g.24143273G>T	(Likely) pathogenic	1 lab	ec87ce7894
12:48377504 COL2A1 G>A	12	48377504	48377504	G	A	COL2A1	c.1957C>T	NM_001844.5	NP_001835.3:p.(Arg653Ter)	NC_000012.11:g.48377504G>A	(Likely) pathogenic	1 lab	ec8970b72b
2:179441481 TTN C>T	2	179441481	179441481	C	T	TTN	c.69490G>A	NM_001267550.2	NP_001254479.2:p.(Val23164Met)	NC_000002.11:g.179441481C>T	(Likely) benign	1 lab	ec8d55193b
14:23886670 MYH7 C>T	14	23886670	23886670	C	T	MYH7	c.4353+42G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886670C>T	(Likely) benign	1 lab	ec8d606710
7:151573640 PRKAG2 G>A	7	151573640	151573640	G	A	PRKAG2	c.66C>T	NM_016203.3	NP_057287.2:p.(Gly22=)	NC_000007.13:g.151573640G>A	VUS	1 lab	ec8f8f7ae6
12:33049518 PKP2 T>C	12	33049518	33049518	T	C	PKP2	c.148A>G	NM_004572.3	NP_004563.2:p.(Thr50Ala)	NC_000012.11:g.33049518T>C	(Likely) benign	1 lab	ec9342b339
X:69665404 DLG3 A>G	X	69665404	69665404	A	G	DLG3	c.353A>G	NM_021120.3	NP_066943.2:p.(Glu118Gly)	NC_000023.10:g.69665404A>G	(Likely) pathogenic	1 lab	ec950cde33
8:12957657 DLC1 C>T	8	12957657	12957657	C	T	DLC1	c.2189G>A	NM_182643.3	NP_872584.2:p.(Arg730Gln)	NC_000008.10:g.12957657C>T	(Likely) benign	1 lab	1773d2533d
2:227875130 COL4A4 G>A	2	227875130	227875130	G	A	COL4A4	c.4421C>T	NM_000092.4	NP_000083.3:p.(Thr1474Met)	NC_000002.11:g.227875130G>A	VUS	1 lab	ec9a11b5f8
1:171086462 FMO3 G>A	1	171086462	171086462	G	A	FMO3	c.1479G>A	NM_001002294.2	NP_001002294.1:p.(Ser493=)	NC_000001.10:g.171086462G>A	(Likely) benign	1 lab	ec9b3c0f35
6:74191892 MTO1 C>T	6	74191892	74191892	C	T	MTO1	c.1510C>T	NM_001123226.1	NP_001116698.1:p.(Arg504Cys)	NC_000006.11:g.74191892C>T	(Likely) pathogenic	1 lab	ec9b47671c
7:6035184 PMS2 C>G	7	6035184	6035184	C	G	PMS2	c.884G>C	NM_000535.7	NP_000526.2:p.(Arg295Pro)	NC_000007.13:g.6035184C>G	VUS	1 lab	ec9bb18c34
3:121545017 IQCB1 C>CA	3	121545017	121545018	C	CA	IQCB1	c.273dup	NM_001023570.2	NP_001018864.2:p.(Val92CysfsTer15)	NC_000003.11:g.121545018dup	(Likely) pathogenic	1 lab	ec9cdfc72d
8:100866331 VPS13B G>A	8	100866331	100866331	G	A	VPS13B	c.10789G>A	NM_017890.4	NP_060360.3:p.(Val3597Ile)	NC_000008.10:g.100866331G>A	(Likely) benign	1 lab	1776bfe1dd
19:6680185 C3 G>T	19	6680185	6680185	G	T	C3	c.4440C>A	NM_000064.4	NP_000055.2:p.(Tyr1480Ter)	NC_000019.9:g.6680185G>T	(Likely) pathogenic	1 lab	ec9fa443e6
16:2153698 PKD1 C>G	16	2153698	2153698	C	G	PKD1	c.8360G>C	NM_001009944.3	NP_001009944.3:p.(Arg2787Pro)	NC_000016.9:g.2153698C>G	(Likely) pathogenic	1 lab	eca02080aa
22:29095826 CHEK2 C>T	22	29095826	29095826	C	T	CHEK2	c.1008G>A	NM_007194.4	NP_009125.1:p.(Gln336=)	NC_000022.10:g.29095826C>T	VUS	1 lab	eca0cc1f2e
22:41895865 ACO2 C>T	22	41895865	41895865	C	T	ACO2	c.172C>T	NM_001098.3	NP_001089.1:p.(Arg58Ter)	NC_000022.10:g.41895865C>T	(Likely) pathogenic	1 lab	eca0deac33
13:32968874 BRCA2 C>T	13	32968874	32968874	C	T	BRCA2	c.9305C>T	NM_000059.3	NP_000050.2:p.(Ala3102Val)	NC_000013.10:g.32968874C>T	VUS	1 lab	eca2ef7857
1:196706610 CFH A>T	1	196706610	196706610	A	T	CFH	c.2602A>T	NM_000186.4	NP_000177.2:p.(Ile868Phe)	NC_000001.10:g.196706610A>T	VUS	1 lab	15ee348a4f
16:23649272 PALB2 C>T	16	23649272	23649272	C	T	PALB2	c.110G>A	NM_024675.3	NP_078951.2:p.(Arg37His)	NC_000016.9:g.23649272C>T	VUS	1 lab	eca454ed9c
13:32907215 BRCA2 G>A	13	32907215	32907215	G	A	BRCA2	c.1600G>A	NM_000059.3	NP_000050.2:p.(Glu534Lys)	NC_000013.10:g.32907215G>A	VUS	1 lab	eca5d7ae37
5:161322678 GABRA1 C>T	5	161322678	161322678	C	T	GABRA1	c.863C>T	NM_000806.5	NP_000797.2:p.(Thr288Ile)	NC_000005.9:g.161322678C>T	VUS	1 lab	eca605f670
6:7585957 DSP C>T	6	7585957	7585957	C	T	DSP	c.8462C>T	NM_004415.2	NP_004406.2:p.(Ser2821Leu)	NC_000006.11:g.7585957C>T	VUS	1 lab	eca973cfa8
7:100245102 MISSING G>A	7	100245102	100245102	G	A	MISSING				NC_000007.13:g.100245102G>A	VUS	1 lab	f71e12f379
2:179416827 TTN GT>G	2	179416827	179416830	GT	G	TTN	c.90799del	NM_001267550.2	NP_001254479.2:p.(Thr30267LeufsTer23)	NC_000002.11:g.179416830del	(Likely) pathogenic	1 lab	15efadb61a
7:128486036 FLNC G>A	7	128486036	128486036	G	A	FLNC	c.3791-8G>A	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128486036G>A	(Likely) benign	1 lab	177782ba52
1:152280347 FLG C>T	1	152280347	152280347	C	T	FLG	c.7015G>A	NM_002016.1	NP_002007.1:p.(Asp2339Asn)	NC_000001.10:g.152280347C>T	(Likely) benign	1 lab	ecaf502d50
2:47656936 MSH2 G>T	2	47656936	47656936	G	T	MSH2	c.1132G>T	NM_000251.2	NP_000242.1:p.(Glu378Ter)	NC_000002.11:g.47656936G>T	(Likely) pathogenic	1 lab	ecb0a601ec
10:95892201 PLCE1 C>T	10	95892201	95892201	C	T	PLCE1				NC_000010.10:g.95892201C>T	(Likely) pathogenic	1 lab	ecb359cae9
4:155527862 FGG T>C	4	155527862	155527862	T	C	FGG	c.1124A>G	NM_000509.5	NP_000500.2:p.(Tyr375Cys)	NC_000004.11:g.155527862T>C	(Likely) pathogenic	1 lab	ecb6935435
2:136545910 LCT G>T	2	136545910	136545910	G	T	LCT	c.5768C>A	NM_002299.3	NP_002290.2:p.(Pro1923Gln)	NC_000002.11:g.136545910G>T	(Likely) benign	1 lab	ecb70caa09
6:75823317 COL12A1 C>T	6	75823317	75823317	C	T	COL12A1	c.7840+1G>A	NM_004370.5	NP_004361.3:p.?	NC_000006.11:g.75823317C>T	(Likely) pathogenic	1 lab	ecb9149bdc
18:28681837 DSC2 C>T	18	28681837	28681837	C	T	DSC2	c.69+29G>A	NM_024422.3	NP_077740.1:p.?	NC_000018.9:g.28681837C>T	(Likely) benign	1 lab	ecb933a267
19:4090610 MAP2K2 G>A	19	4090610	4090610	G	A	MAP2K2	c.1189C>T	NM_030662.3	NP_109587.1:p.(Arg397Cys)	NC_000019.9:g.4090610G>A	(Likely) benign	1 lab	ecbb23f8b3
4:6303899 WFS1 C>T	4	6303899	6303899	C	T	WFS1	c.2377C>T	NM_006005.3	NP_005996.2:p.(Arg793Cys)	NC_000004.11:g.6303899C>T	VUS	1 lab	2304df943d
12:48293605 VDR C>G	12	48293605	48293605	C	G	VDR	c.-84+15G>C	NM_001017535.1	NP_001017535.1:p.?	NC_000012.11:g.48293605C>G	(Likely) benign	1 lab	ecbc78754f
11:95825382 MAML2 GC>G	11	95825382	95825383	GC	G	MAML2	c.1812del	NM_032427.4	NP_115803.1:p.(Gln604HisfsTer77)	NC_000011.9:g.95825383del	(Likely) benign	1 lab	15f0145a51
3:169099077 MECOM T>C	3	169099077	169099077	T	C	MECOM	c.273A>G	NM_004991.4	NP_004982.2:p.(Gly91=)	NC_000003.11:g.169099077T>C	(Likely) benign	1 lab	177a9a4207
16:89348090 ANKRD11 G>C	16	89348090	89348090	G	C	ANKRD11	c.4860C>G	NM_013275.5	NP_037407.4:p.(Leu1620=)	NC_000016.9:g.89348090G>C	(Likely) benign	1 lab	ecbff3b327
19:45856371 ERCC2 G>A	19	45856371	45856371	G	A	ERCC2	c.1801C>T	NM_000400.3	NP_000391.1:p.(Arg601Trp)	NC_000019.9:g.45856371G>A	(Likely) pathogenic	1 lab	ecdcf7f8e5
16:81813033 PLCG2 A>G	16	81813033	81813033	A	G	PLCG2	c.-48+4A>G	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81813033A>G	(Likely) benign	1 lab	15f52e8068
17:76445503 DNAH17 G>A	17	76445503	76445503	G	A	DNAH17	c.11204C>T	NM_173628.3	NP_775899.3:p.(Thr3735Met)	NC_000017.10:g.76445503G>A	VUS	1 lab	eccbca31d1
4:114067023 ANK2 AGAT>A	4	114067023	114067027	AGAT	A	ANK2	c.1_3del	NM_001386174.1	NP_001373103.1:p.(Met1?)	NC_000004.11:g.114067025_114067027del	VUS	1 lab	15f5e67a52
12:25380300 KRAS A>C	12	25380300	25380300	A	C	KRAS	c.158T>G	NM_033360.2	NP_203524.1:p.(Leu53Trp)	NC_000012.11:g.25380300A>C	(Likely) pathogenic	1 lab	eccc838134
12:116429277 MED13L G>A	12	116429277	116429277	G	A	MED13L	c.3482C>T	NM_015335.4	NP_056150.1:p.(Thr1161Ile)	NC_000012.11:g.116429277G>A	(Likely) pathogenic	1 lab	eccd583679
14:75471520 EIF2B2 C>T	14	75471520	75471520	C	T	EIF2B2	c.514C>T	NM_014239.3	NP_055054.1:p.(Arg172Ter)	NC_000014.8:g.75471520C>T	(Likely) pathogenic	1 lab	ecce8e1e53
5:112174104 APC C>CT	5	112174104	112174105	C	CT	APC	c.2814dup	NM_000038.6	NP_000029.2:p.(Lys939Ter)	NC_000005.9:g.112174105dup	(Likely) pathogenic	1 lab	ecd1b3751b
10:112540809 RBM20 G>A	10	112540809	112540809	G	A	RBM20	c.442G>A	NM_001134363.2	NP_001127835.2:p.(Gly148Ser)	NC_000010.10:g.112540809G>A	(Likely) benign	1 lab	ecd3f42999
7:75677555 MDH2 C>T	7	75677555	75677555	C	T	MDH2	c.66+11C>T	NM_005918.3	NP_005909.2:p.?	NC_000007.13:g.75677555C>T	(Likely) benign	1 lab	ecd49950b3
6:3225595 TUBB2B G>C	6	3225595	3225595	G	C	TUBB2B	c.728C>G	NM_178012.4	NP_821080.1:p.(Pro243Arg)	NC_000006.11:g.3225595G>C	VUS	1 lab	ecd57b1dcf
12:110032875 MVK G>A	12	110032875	110032875	G	A	MVK	c.928G>A	NM_000431.2	NP_000422.1:p.(Val310Met)	NC_000012.11:g.110032875G>A	(Likely) pathogenic	1 lab	1782b7cfac
2:48948856 LHCGR A>G	2	48948856	48948856	A	G	LHCGR	c.536+1739T>C	NM_000233.4	NP_000224.2:p.?	NC_000002.11:g.48948856A>G	(Likely) benign	1 lab	15f83fa8ac
7:148525904 EZH2 C>G	7	148525904	148525904	C	G	EZH2	c.553G>C	NM_004456.4	NP_004447.2:p.(Asp185His)	NC_000007.13:g.148525904C>G	(Likely) benign	1 lab	ecdb58621e
4:2833351 SH3BP2 G>A	4	2833351	2833351	G	A	SH3BP2	c.1295G>A	NM_003023.4	NP_003014.3:p.(Arg432Gln)	NC_000004.11:g.2833351G>A	VUS	1 lab	ecdd287547
11:111957658 SDHD C>G	11	111957658	111957658	C	G	SDHD	c.27C>G	NM_003002.4	NP_002993.1:p.(Ala9=)	NC_000011.9:g.111957658C>G	(Likely) benign	1 lab	ece06fa494
14:23899118 MYH7 G>C	14	23899118	23899118	G	C	MYH7	c.1004C>G	NM_000257.2	NP_000248.2:p.(Ala335Gly)	NC_000014.8:g.23899118G>C	VUS	1 lab	ece2fab049
1:103544358 COL11A1 A>C	1	103544358	103544358	A	C	COL11A1	c.344T>G	NM_001854.4	NP_001845.3:p.(Leu115Arg)	NC_000001.10:g.103544358A>C	VUS	1 lab	ece37cf815
17:44115894 KANSL1 AGGTACTTACCGATGTGCT>A	17	44115894	44115914	AGGTACTTACCGATGTGCT	A	KANSL1	c.2533_2541+9del	NM_001193466.2	NP_001180395.1:p.?	NC_000017.10:g.44115897_44115914del	VUS	1 lab	15f852ee9d
12:52184236 SCN8A A>G	12	52184236	52184236	A	G	SCN8A				NC_000012.11:g.52184236A>G	(Likely) pathogenic	1 lab	ece6b35a04
14:23896388 MYH7 T>C	14	23896388	23896388	T	C	MYH7	c.1956+61A>G	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23896388T>C	(Likely) benign	1 lab	ece6df2264
19:13136366 NFIX G>T	19	13136366	13136366	G	T	NFIX	c.559G>T	NM_002501.2	NP_002492.2:p.(Glu187Ter)	NC_000019.9:g.13136366G>T	(Likely) pathogenic	1 lab	ece72e7966
2:179596920 TTN C>A	2	179596920	179596920	C	A	TTN	c.16776G>T	NM_001267550.2	NP_001254479.2:p.(Met5592Ile)	NC_000002.11:g.179596920C>A	(Likely) benign	1 lab	ece84a0d9b
17:6337247 AIPL1 C>G	17	6337247	6337247	C	G	AIPL1	c.268G>C	NM_014336.4	NP_055151.3:p.(Asp90His)	NC_000017.10:g.6337247C>G	(Likely) benign	1 lab	ece85c39e2
2:220286115 DES G>A	2	220286115	220286115	G	A	DES	c.1077G>A	NM_001927.3	NP_001918.3:p.(Glu359=)	NC_000002.11:g.220286115G>A	VUS	1 lab	ece8fad7ce
11:118360903 KMT2A G>C	11	118360903	118360903	G	C	KMT2A	c.4635G>C	NM_001197104.1	NP_001184033.1:p.(Trp1545Cys)	NC_000011.9:g.118360903G>C	(Likely) pathogenic	1 lab	ece9247307
4:149356404 NR3C2 G>A	4	149356404	149356404	G	A	NR3C2	c.1609C>T	NM_000901.4	NP_000892.2:p.(Arg537Ter)	NC_000004.11:g.149356404G>A	(Likely) pathogenic	1 lab	ecea65c483
16:85690946 GSE1 C>T	16	85690946	85690946	C	T	GSE1	c.1064C>T	NM_001134473.3	NP_001127945.1:p.(Pro355Leu)	NC_000016.9:g.85690946C>T	VUS	1 lab	15f9c1069e
13:25479541 CENPJ A>C	13	25479541	25479541	A	C	CENPJ				NC_000013.10:g.25479541A>C	(Likely) benign	1 lab	ecec409405
5:88027590 MEF2C G>A	5	88027590	88027590	G	A	MEF2C	c.820C>T	NM_001193347.1	NP_001180276.1:p.(Arg274Ter)	NC_000005.9:g.88027590G>A	(Likely) pathogenic	1 lab	ecec9b14ab
1:12343793 VPS13D G>A	1	12343793	12343793	G	A	VPS13D	c.5634G>A	NM_015378.4	NP_056193.2:p.(Lys1878=)	NC_000001.10:g.12343793G>A	VUS	1 lab	eceeedf699
10:55955613 PCDH15 C>A	10	55955613	55955613	C	A	PCDH15	c.1150G>T	NM_001142763.1	NP_001136235.1:p.(Ala384Ser)	NC_000010.10:g.55955613C>A	VUS	1 lab	ed0e3a16ee
16:31123252 BCKDK TCAC>T	16	31123252	31123255	TCAC	T	BCKDK	c.999_1001del	NM_005881.4	NP_005872.2:p.(Thr335del)	NC_000016.9:g.31123253_31123255del	(Likely) pathogenic	1 lab	ecf59e2a1a
6:26156778 H1-4 C>T	6	26156778	26156778	C	T	H1-4	c.160C>T	NM_005321.3	NP_005312.1:p.(Arg54Cys)	NC_000006.11:g.26156778C>T	VUS	1 lab	ecf85d0d94
15:80464558 FAH T>G	15	80464558	80464558	T	G	FAH	c.674T>G	NM_000137.4	NP_000128.1:p.(Ile225Ser)	NC_000015.9:g.80464558T>G	(Likely) pathogenic	1 lab	ecf96f5043
17:17696624 RAI1 G>A	17	17696624	17696624	G	A	RAI1	c.362G>A	NM_030665.3	NP_109590.3:p.(Trp121Ter)	NC_000017.10:g.17696624G>A	(Likely) pathogenic	1 lab	ecfd93d173
1:46657979 POMGNT1 C>T	1	46657979	46657979	C	T	POMGNT1	c.1413+1G>A	NM_001243766.2	NP_001230695.2:p.?	NC_000001.10:g.46657979C>T	(Likely) pathogenic	1 lab	15fdb1d496
3:43147538 POMGNT2 T>G	3	43147538	43147538	T	G	POMGNT2				NC_000003.11:g.43147538T>G	(Likely) benign	1 lab	ed00fe0af2
11:47370065 MYBPC3 C>T	11	47370065	47370065	C	T	MYBPC3	c.682G>A	NM_000256.3	NP_000247.2:p.(Asp228Asn)	NC_000011.9:g.47370065C>T	(Likely) benign	1 lab	ed05f9620f
7:27182779 HOXA5 C>T	7	27182779	27182779	C	T	HOXA5	c.448G>A	NM_019102.4	NP_061975.2:p.(Glu150Lys)	NC_000007.13:g.27182779C>T	VUS	1 lab	ed07551b80
3:119886548 GPR156 G>C	3	119886548	119886548	G	C	GPR156	c.1776C>G	NM_153002.2	NP_694547.2:p.(Leu592=)	NC_000003.11:g.119886548G>C	(Likely) benign	1 lab	ed0a0b0103
1:154557443 ADAR G>A	1	154557443	154557443	G	A	ADAR	c.3520C>T	NM_001111.5	NP_001102.3:p.(Arg1174Cys)	NC_000001.10:g.154557443G>A	VUS	1 lab	ed0b80a433
5:140953100 DIAPH1 A>G	5	140953100	140953100	A	G	DIAPH1	c.2317T>C	NM_005219.4	NP_005210.3:p.(Tyr773His)	NC_000005.9:g.140953100A>G	VUS	1 lab	ed0d329d37
17:78184858 SGSH G>A	17	78184858	78184858	G	A	SGSH	c.950-48C>T	NM_000199.5	NP_000190.1:p.?	NC_000017.10:g.78184858G>A	VUS	1 lab	045ec0ae02
2:127821220 BIN1 C>T	2	127821220	127821220	C	T	BIN1				NC_000002.11:g.127821220C>T	VUS	1 lab	eefc8f617c
17:58740372 PPM1D C>CA	17	58740372	58740373	C	CA	PPM1D	c.1278dup	NM_003620.4	NP_003611.1:p.(Trp427MetfsTer7)	NC_000017.10:g.58740373dup	(Likely) pathogenic	1 lab	ed0f829d98
1:201330445 TNNT2 A>C	1	201330445	201330445	A	C	TNNT2	c.742T>G	NM_001001430.3	NP_001001430.1:p.(Phe248Val)	NC_000001.10:g.201330445A>C	(Likely) pathogenic	1 lab	ed17d22643
6:51609212 PKHD1 GC>G	6	51609212	51609214	GC	G	PKHD1	c.10126del	NM_138694.4	NP_619639.3:p.(Ala3376GlnfsTer24)	NC_000006.11:g.51609214del	(Likely) pathogenic	1 lab	ed1b88878e
20:62842649 MYT1 G>A	20	62842649	62842649	G	A	MYT1	c.1382G>A	NM_004535.2	NP_004526.1:p.(Arg461His)	NC_000020.10:g.62842649G>A	VUS	1 lab	ed1cdafbe5
11:118370131 KMT2A G>A	11	118370131	118370131	G	A	KMT2A	c.6075G>A	NM_001197104.1	NP_001184033.1:p.(Met2025Ile)	NC_000011.9:g.118370131G>A	VUS	1 lab	ed223ff766
22:29083887 CHEK2 A>G	22	29083887	29083887	A	G	CHEK2	c.1630T>C	NM_007194.4	NP_009125.1:p.(Ter544ArgextTer48)	NC_000022.10:g.29083887A>G	VUS	1 lab	ed25db9656
16:2140554 PKD1 G>A	16	2140554	2140554	G	A	PKD1	c.12176C>T	NM_001009944.2	NP_001009944.2:p.(Ala4059Val)	NC_000016.9:g.2140554G>A	(Likely) benign	1 lab	ed28bf770b
14:102514250 DYNC1H1 C>T	14	102514250	102514250	C	T	DYNC1H1	c.13103C>T	NM_001376.4	NP_001367.2:p.(Ser4368Phe)	NC_000014.8:g.102514250C>T	VUS	1 lab	ed2b6bcaee
11:70824407 SHANK2 G>A	11	70824407	70824407	G	A	SHANK2	c.415C>T	NM_012309.5	NP_036441.2:p.(Arg139Ter)	NC_000011.9:g.70824407G>A	(Likely) benign	1 lab	ed2c83ef5b
16:56919216 SLC12A3 A>G	16	56919216	56919216	A	G	SLC12A3	c.1865A>G	NM_000339.2	NP_000330.2:p.(Asn622Ser)	NC_000016.9:g.56919216A>G	(Likely) benign	1 lab	ed2f803e6f
1:216073505 USH2A C>T	1	216073505	216073505	C	T	USH2A	c.7506G>A	NM_206933.2	NP_996816.2:p.(Pro2502=)	NC_000001.10:g.216073505C>T	(Likely) benign	1 lab	ed339d89a8
14:77765840 POMT2 T>C	14	77765840	77765840	T	C	POMT2	c.881A>G	NM_013382.5	NP_037514.2:p.(Tyr294Cys)	NC_000014.8:g.77765840T>C	(Likely) pathogenic	1 lab	ed387d01c6
15:26866542 GABRB3 T>C	15	26866542	26866542	T	C	GABRB3	c.380A>G	NM_000814.6	NP_000805.1:p.(Lys127Arg)	NC_000015.9:g.26866542T>C	(Likely) pathogenic	1 lab	ed39074bd3
10:104678801 CNNM2 C>T	10	104678801	104678801	C	T	CNNM2				NC_000010.10:g.104678801C>T	(Likely) benign	1 lab	ed3a0188da
4:1808987 FGFR3 T>G	4	1808987	1808987	T	G	FGFR3	c.2419T>G	NM_000142.4	NP_000133.1:p.(Ter807GlyextTer101)	NC_000004.11:g.1808987T>G	(Likely) pathogenic	1 lab	ed3ba2dc04
5:138269561 CTNNA1 C>T	5	138269561	138269561	C	T	CTNNA1	c.2504C>T	NM_001903.5	NP_001894.2:p.(Ala835Val)	NC_000005.9:g.138269561C>T	VUS	1 lab	ed3fdb96f7
15:89876439 POLG C>G	15	89876439	89876439	C	G	POLG	c.547G>C	NM_002693.2	NP_002684.1:p.(Glu183Gln)	NC_000015.9:g.89876439C>G	VUS	1 lab	ed41143910
2:48027179 MSH6 G>A	2	48027179	48027179	G	A	MSH6	c.2057G>A	NM_000179.2	NP_000170.1:p.(Gly686Asp)	NC_000002.11:g.48027179G>A	(Likely) pathogenic	1 lab	ed44a301d9
6:33137651 COL11A2 C>A	6	33137651	33137651	C	A	COL11A2	c.3647G>T	NM_080680.3	NP_542411.2:p.(Gly1216Val)	NC_000006.11:g.33137651C>A	VUS	1 lab	ed46947743
11:108155018 ATM A>G	11	108155018	108155018	A	G	ATM	c.3811A>G	NM_000051.3	NP_000042.3:p.(Ile1271Val)	NC_000011.9:g.108155018A>G	VUS	1 lab	ed49930073
7:117180335 CFTR A>G	7	117180335	117180335	A	G	CFTR	c.1051A>G	NM_000492.4	NP_000483.3:p.(Thr351Ala)	NC_000007.13:g.117180335A>G	VUS	1 lab	ed4bdc40a1
5:112174211 APC G>A	5	112174211	112174211	G	A	APC	c.2920G>A	NM_000038.5	NP_000029.2:p.(Gly974Ser)	NC_000005.9:g.112174211G>A	VUS	1 lab	ed6042cc58
9:126133364 CRB2 C>T	9	126133364	126133364	C	T	CRB2	c.1943C>T	NM_173689.6	NP_775960.4:p.(Thr648Ile)	NC_000009.11:g.126133364C>T	VUS	1 lab	ed52fdff95
18:21132571 NPC1 G>C	18	21132571	21132571	G	C	NPC1	c.1554-880C>G	NM_000271.4	NP_000262.2:p.?	NC_000018.9:g.21132571G>C	(Likely) benign	1 lab	ed55a9521a
13:32911575 BRCA2 A>C	13	32911575	32911575	A	C	BRCA2	c.3083A>C	NM_000059.3	NP_000050.2:p.(Lys1028Thr)	NC_000013.10:g.32911575A>C	(Likely) benign	1 lab	ed58382e69
2:166894638 SCN1A C>T	2	166894638	166894638	C	T	SCN1A	c.2594G>A	NM_001165963.1	NP_001159435.1:p.(Arg865Gln)	NC_000002.11:g.166894638C>T	(Likely) pathogenic	1 lab	ed58e280c2
16:84203896 DNAAF1 C>T	16	84203896	84203896	C	T	DNAAF1	c.1462C>T	NM_178452.5	NP_848547.4:p.(Arg488Ter)	NC_000016.9:g.84203896C>T	(Likely) pathogenic	1 lab	ed598aa8c1
6:33405652 SYNGAP1 C>T	6	33405652	33405652	C	T	SYNGAP1	c.970C>T	NM_006772.3	NP_006763.2:p.(Arg324Trp)	NC_000006.11:g.33405652C>T	VUS	1 lab	ed59dc7ba1
9:98229650 PTCH1 G>A	9	98229650	98229650	G	A	PTCH1	c.2308C>T	NM_000264.3	NP_000255.2:p.(Arg770Ter)	NC_000009.11:g.98229650G>A	(Likely) pathogenic	1 lab	ed5d37dce9
17:41249301 BRCA1 C>G	17	41249301	41249301	C	G	BRCA1	c.553G>C	NM_007294.3	NP_009225.1:p.(Asp185His)	NC_000017.10:g.41249301C>G	VUS	1 lab	ed5d4e6bb4
19:33353110 SLC7A9 A>AT	19	33353110	33353112	A	AT	SLC7A9	c.617dup	NM_014270.5	NP_055085.1:p.(Asn206LysfsTer3)	NC_000019.9:g.33353112dup	(Likely) pathogenic	1 lab	ed5e81d87d
22:41310343 XPNPEP3 G>A	22	41310343	41310343	G	A	XPNPEP3	c.1055+15G>A	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41310343G>A	(Likely) benign	1 lab	17877253f0
20:42744652 JPH2 A>G	20	42744652	42744652	A	G	JPH2	c.1663T>C	NM_020433.4	NP_065166.2:p.(Ser555Pro)	NC_000020.10:g.42744652A>G	(Likely) benign	1 lab	ed675bebd8
X:153132876 L1CAM G>A	X	153132876	153132876	G	A	L1CAM	c.2072C>T	NM_000425.4	NP_000416.1:p.(Ala691Val)	NC_000023.10:g.153132876G>A	VUS	1 lab	ed70fa6cec
X:12905755 TLR7 CAACT>C	X	12905755	12905759	CAACT	C	TLR7	c.2129_2132del	NM_016562.4	NP_057646.1:p.(Gln710ArgfsTer18)	NC_000023.10:g.12905756_12905759del	(Likely) pathogenic	1 lab	ed72c34c75
11:17655825 OTOG TGTG>T	11	17655825	17655831	TGTG	T	OTOG	c.7516+1_7516+3del	NM_001277269.1	NP_001264198.1:p.?	NC_000011.9:g.17655829_17655831del	VUS	1 lab	ed7493a9a9
5:37224915 CPLANE1 AT>A	5	37224915	37224926	AT	A	CPLANE1	c.2292-74del	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37224926del	(Likely) benign	1 lab	178f5a7fcc
22:21346086 LZTR1 T>G	22	21346086	21346086	T	G	LZTR1	c.961T>G	NM_006767.4	NP_006758.2:p.(Trp321Gly)	NC_000022.10:g.21346086T>G	VUS	1 lab	ed77445dc1
3:78710310 ROBO1 C>T	3	78710310	78710310	C	T	ROBO1	c.2190G>A	NM_002941.4	NP_002932.1:p.(Thr730=)	NC_000003.11:g.78710310C>T	(Likely) benign	1 lab	1794a1015e
2:48033396 MSH6 G>T	2	48033396	48033396	G	T	MSH6	c.3700G>T	NM_000179.2	NP_000170.1:p.(Glu1234Ter)	NC_000002.11:g.48033396G>T	(Likely) pathogenic	1 lab	ed7b1c0782
1:51439619 CDKN2C A>G	1	51439619	51439619	A	G	CDKN2C	c.184A>G	NM_078626.3	NP_523240.1:p.(Asn62Asp)	NC_000001.10:g.51439619A>G	(Likely) benign	1 lab	ed7b3e89be
2:26502857 HADHB A>T	2	26502857	26502857	A	T	HADHB	c.812-5A>T	NM_000183.2	NP_000174.1:p.?	NC_000002.11:g.26502857A>T	(Likely) benign	1 lab	ed81162313
5:14716935 ANKH C>T	5	14716935	14716935	C	T	ANKH	c.1021G>A	NM_054027.6	NP_473368.1:p.(Val341Met)	NC_000005.9:g.14716935C>T	(Likely) benign	1 lab	160c419ba6
1:161192845 APOA2 CCACACA>C	1	161192845	161192884	CCACACA	C	APOA2	c.53-11_53-6del	NM_001643.2	NP_001634.1:p.?	NC_000001.10:g.161192879_161192884del	(Likely) benign	1 lab	179502ac53
10:89623714 PTEN G>T	10	89623714	89623714	G	T	PTEN	c.-513G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623714G>T	(Likely) benign	1 lab	ed831a8dea
1:207495881 CD55 T>C	1	207495881	207495881	T	C	CD55	c.255T>C	NM_001114752.3	NP_001108224.1:p.(Ser85=)	NC_000001.10:g.207495881T>C	(Likely) benign	1 lab	179bb627fb
13:32937456 BRCA2 A>G	13	32937456	32937456	A	G	BRCA2	c.8117A>G	NM_000059.3	NP_000050.2:p.(Asn2706Ser)	NC_000013.10:g.32937456A>G	(Likely) benign	1 lab	ed8a74e414
2:47709153 MSH2 G>A	2	47709153	47709153	G	A	MSH2	c.2635-765G>A	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47709153G>A	(Likely) benign	1 lab	ed8ab56e32
9:35657889 RMRP G>A	9	35657889	35657889	G	A	RMRP	n.127C>T	NR_003051.3		NC_000009.11:g.35657889G>A	(Likely) pathogenic	1 lab	ed8af1fffa
11:68575001 CPT1A C>T	11	68575001	68575001	C	T	CPT1A	c.387G>A	NM_001876.3	NP_001867.2:p.(Leu129=)	NC_000011.9:g.68575001C>T	(Likely) benign	1 lab	ed8d0a22c7
1:160097590 ATP1A2 G>A	1	160097590	160097590	G	A	ATP1A2	c.997G>A	NM_000702.4	NP_000693.1:p.(Gly333Arg)	NC_000001.10:g.160097590G>A	(Likely) pathogenic	1 lab	ed8ead6b73
2:227974001 COL4A4 C>T	2	227974001	227974001	C	T	COL4A4	c.596G>A	NM_000092.4	NP_000083.3:p.(Gly199Glu)	NC_000002.11:g.227974001C>T	(Likely) pathogenic	1 lab	179cc182bf
16:88804852 PIEZO1 C>T	16	88804852	88804852	C	T	PIEZO1	c.635-4G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88804852C>T	(Likely) benign	1 lab	179cfe7a5b
9:139391901 NOTCH1 G>A	9	139391901	139391901	G	A	NOTCH1	c.6290C>T	NM_017617.5	NP_060087.3:p.(Pro2097Leu)	NC_000009.11:g.139391901G>A	VUS	1 lab	179d32d4f4
3:58097918 FLNB A>G	3	58097918	58097918	A	G	FLNB	c.2618A>G	NM_001457.4	NP_001448.2:p.(Lys873Arg)	NC_000003.11:g.58097918A>G	VUS	1 lab	161b939ecd
16:23647535 PALB2 T>C	16	23647535	23647535	T	C	PALB2	c.332A>G	NM_024675.3	NP_078951.2:p.(Asp111Gly)	NC_000016.9:g.23647535T>C	(Likely) benign	1 lab	ed983fa02f
3:179287926 ACTL6A C>T	3	179287926	179287926	C	T	ACTL6A	c.174C>T	NM_004301.5	NP_004292.1:p.(Gly58=)	NC_000003.11:g.179287926C>T	(Likely) benign	1 lab	161ba474e7
4:120108355 MYOZ2 T>C	4	120108355	120108355	T	C	MYOZ2	c.*1000T>C	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120108355T>C	VUS	1 lab	ed98419e27
1:66067366 LEPR G>A	1	66067366	66067366	G	A	LEPR	c.1285+1G>A	NM_001198687.1	NP_001185616.1:p.?	NC_000001.10:g.66067366G>A	(Likely) pathogenic	1 lab	ed99fe3c36
8:117864806 RAD21 G>C	8	117864806	117864806	G	C	RAD21	c.1303C>G	NM_006265.3	NP_006256.1:p.(Gln435Glu)	NC_000008.10:g.117864806G>C	VUS	1 lab	16205e052b
1:237863615 RYR2 T>A	1	237863615	237863615	T	A	RYR2	c.9215T>A	NM_001035.2	NP_001026.2:p.(Met3072Lys)	NC_000001.10:g.237863615T>A	(Likely) benign	1 lab	ed9bc592a5
5:92921068 NR2F1 C>A	5	92921068	92921068	C	A	NR2F1	c.339C>A	NM_005654.4	NP_005645.1:p.(Ser113Arg)	NC_000005.9:g.92921068C>A	(Likely) pathogenic	1 lab	ed9c7444d1
17:59878673 BRIP1 C>G	17	59878673	59878673	C	G	BRIP1	c.1081G>C	NM_032043.2	NP_114432.2:p.(Asp361His)	NC_000017.10:g.59878673C>G	(Likely) benign	1 lab	ed9d3ec215
5:145719405 POU4F3 G>GTGAT	5	145719405	145719409	G	GTGAT	POU4F3	c.416_419dup	NM_002700.3	NP_002691.1:p.(Met140IlefsTer33)	NC_000005.9:g.145719406_145719409dup	(Likely) pathogenic	1 lab	ed9d4d8c2a
7:47879110 PKD1L1 G>A	7	47879110	47879110	G	A	PKD1L1	c.5703C>T	NM_138295.4	NP_612152.1:p.(Ala1901=)	NC_000007.13:g.47879110G>A	(Likely) benign	1 lab	ed9e2fb7a2
X:107814644 COL4A5 G>A	X	107814644	107814644	G	A	COL4A5	c.386G>A	NM_033380.2	NP_203699.1:p.(Gly129Glu)	NC_000023.10:g.107814644G>A	(Likely) pathogenic	1 lab	ed9e6f29ea
2:179494131 TTN G>A	2	179494131	179494131	G	A	TTN	c.44321C>T	NM_001267550.2	NP_001254479.2:p.(Thr14774Ile)	NC_000002.11:g.179494131G>A	VUS	1 lab	eda013d9e0
X:85282561 CHM C>G	X	85282561	85282561	C	G	CHM				NC_000023.10:g.85282561C>G	VUS	1 lab	eda3e918d2
7:128488912 FLNC C>G	7	128488912	128488912	C	G	FLNC	c.4803C>G	NM_001458.4	NP_001449.3:p.(Ser1601=)	NC_000007.13:g.128488912C>G	(Likely) benign	1 lab	eda523341c
2:48033372 MSH6 G>A	2	48033372	48033372	G	A	MSH6	c.3676G>A	NM_000179.2	NP_000170.1:p.(Ala1226Thr)	NC_000002.11:g.48033372G>A	VUS	1 lab	eda6e2eb15
8:144992435 PLEC C>T	8	144992435	144992435	C	T	PLEC	c.11965G>A	NM_201380.3	NP_958782.1:p.(Asp3989Asn)	NC_000008.10:g.144992435C>T	VUS	1 lab	eda93424dd
5:45353355 HCN1 G>A	5	45353355	45353355	G	A	HCN1	c.1231-7C>T	NM_021072.4	NP_066550.2:p.?	NC_000005.9:g.45353355G>A	(Likely) benign	1 lab	179dd5132f
16:3304592 MEFV C>T	16	3304592	3304592	C	T	MEFV	c.476G>A	NM_000243.2	NP_000234.1:p.(Ser159Asn)	NC_000016.9:g.3304592C>T	(Likely) benign	1 lab	179fa12b88
4:187201166 F11 A>T	4	187201166	187201166	A	T	F11	c.756A>T	NM_000128.3	NP_000119.1:p.(Arg252Ser)	NC_000004.11:g.187201166A>T	(Likely) pathogenic	1 lab	edaa2d45cd
X:154227798 F8 G>A	X	154227798	154227798	G	A	F8	c.221C>T	NM_000132.4	NP_000123.1:p.(Thr74Met)	NC_000023.10:g.154227798G>A	(Likely) pathogenic	1 lab	edab664478
15:96877678 NR2F2 C>G	15	96877678	96877678	C	G	NR2F2	c.816C>G	NM_021005.3	NP_066285.1:p.(Ala272=)	NC_000015.9:g.96877678C>G	(Likely) benign	1 lab	edaf50bf3c
10:21074787 NEBL G>A	10	21074787	21074787	G	A	NEBL	c.2934C>T	NM_006393.2	NP_006384.1:p.(Gly978=)	NC_000010.10:g.21074787G>A	VUS	1 lab	edb119c918
19:11327938 DOCK6 G>T	19	11327938	11327938	G	T	DOCK6	c.3680C>A	NM_020812.4	NP_065863.2:p.(Ser1227Tyr)	NC_000019.9:g.11327938G>T	VUS	1 lab	1625d4117c
1:161326579 SDHC T>C	1	161326579	161326579	T	C	SDHC	c.354T>C	NM_003001.3	NP_002992.1:p.(Phe118=)	NC_000001.10:g.161326579T>C	(Likely) benign	1 lab	edb9f6da23
12:110784213 ATP2A2 A>AT	12	110784213	110784214	A	AT	ATP2A2	c.3068dup	NM_170665.3	NP_733765.1:p.(Met1023IlefsTer9)	NC_000012.11:g.110784214dup	(Likely) pathogenic	1 lab	edbb2ab175
8:72129260 EYA1 T>C	8	72129260	72129260	T	C	EYA1	c.1141-2A>G	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72129260T>C	(Likely) pathogenic	1 lab	edbc58e258
5:14487806 TRIO G>C	5	14487806	14487806	G	C	TRIO	c.7069G>C	NM_007118.4	NP_009049.2:p.(Ala2357Pro)	NC_000005.9:g.14487806G>C	VUS	1 lab	edbd28e095
16:2546346 TBC1D24 C>T	16	2546346	2546346	C	T	TBC1D24	c.197C>T	NM_001199107.1	NP_001186036.1:p.(Thr66Met)	NC_000016.9:g.2546346C>T	VUS	1 lab	edbd418608
9:21970971 CDKN2A G>T	9	21970971	21970971	G	T	CDKN2A	c.387C>A	NM_000077.5	NP_000068.1:p.(Tyr129Ter)	NC_000009.11:g.21970971G>T	(Likely) pathogenic	1 lab	edbe29d1e2
16:88722098 MVD A>G	16	88722098	88722098	A	G	MVD	c.644T>C	NM_002461.3	NP_002452.1:p.(Met215Thr)	NC_000016.9:g.88722098A>G	VUS	1 lab	edc9178814
3:193363367 OPA1 T>C	3	193363367	193363367	T	C	OPA1	c.1634T>C	NM_130837.3	NP_570850.2:p.(Leu545Pro)	NC_000003.11:g.193363367T>C	VUS	1 lab	edcc13398c
17:54672170 NOG A>T	17	54672170	54672170	A	T	NOG	c.586A>T	NM_005450.4	NP_005441.1:p.(Lys196Ter)	NC_000017.10:g.54672170A>T	(Likely) pathogenic	1 lab	edd10d4a7c
2:227927245 COL4A4 C>T	2	227927245	227927245	C	T	COL4A4	c.2056+1G>A	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227927245C>T	(Likely) pathogenic	1 lab	edd4fab77d
13:32937315 BRCA2 G>C	13	32937315	32937315	G	C	BRCA2	c.7977-1G>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937315G>C	(Likely) pathogenic	1 lab	edd816c2c5
11:47357494 MYBPC3 G>A	11	47357494	47357494	G	A	MYBPC3	c.2671C>T	NM_000256.3	NP_000247.2:p.(Arg891Trp)	NC_000011.9:g.47357494G>A	VUS	1 lab	16299f41c9
15:43675557 TUBGCP4 A>AT	15	43675557	43675558	A	AT	TUBGCP4	c.579dup	NM_014444.4	NP_055259.2:p.(Gly194TrpfsTer8)	NC_000015.9:g.43675558dup	(Likely) pathogenic	1 lab	edda5e7a1f
12:6450966 TNFRSF1A G>A	12	6450966	6450966	G	A	TNFRSF1A	c.15C>T	NM_001065.3	NP_001056.1:p.(Thr5=)	NC_000012.11:g.6450966G>A	(Likely) benign	1 lab	17a803f142
5:139493972 PURA A>AG	5	139493972	139493973	A	AG	PURA	c.207dup	NM_005859.5	NP_005850.1:p.(Asn70GlufsTer131)	NC_000005.9:g.139493973dup	(Likely) pathogenic	1 lab	eddc276b62
20:62126409 EEF1A2 C>T	20	62126409	62126409	C	T	EEF1A2	c.370G>A	NM_001958.3	NP_001949.1:p.(Glu124Lys)	NC_000020.10:g.62126409C>T	VUS	1 lab	edde446ca0
7:107414363 SLC26A3 A>C	7	107414363	107414363	A	C	SLC26A3	c.2007+2T>G	NM_000111.2	NP_000102.1:p.?	NC_000007.13:g.107414363A>C	(Likely) pathogenic	1 lab	eddee84dcf
11:46726389 ZNF408 C>T	11	46726389	46726389	C	T	ZNF408	c.1139C>T	NM_024741.3	NP_079017.1:p.(Pro380Leu)	NC_000011.9:g.46726389C>T	VUS	1 lab	edec508c23
6:33138947 COL11A2 G>A	6	33138947	33138947	G	A	COL11A2	c.3313-3C>T	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33138947G>A	VUS	1 lab	2382744b8b
19:38990265 RYR1 G>A	19	38990265	38990265	G	A	RYR1	c.7028-10G>A	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38990265G>A	(Likely) pathogenic	1 lab	edf1d63c5d
19:621392 POLRMT G>A	19	621392	621392	G	A	POLRMT	c.2306C>T	NM_005035.4	NP_005026.3:p.(Ala769Val)	NC_000019.9:g.621392G>A	VUS	1 lab	163551edcd
2:206994896 NDUFS1 G>A	2	206994896	206994896	G	A	NDUFS1	c.1624C>T	NM_005006.6	NP_004997.4:p.(Pro542Ser)	NC_000002.11:g.206994896G>A	VUS	1 lab	edf7579ec9
X:107844651 COL4A5 A>AACCCAGCCGGGGAAGCCTGGCTTGCCTG	X	107844651	107844679	A	AACCCAGCCGGGGAAGCCTGGCTTGCCTG	COL4A5	c.1978_2005dup	NM_000495.4	NP_000486.1:p.(Gly669AspfsTer11)	NC_000023.10:g.107844652_107844679dup	(Likely) pathogenic	1 lab	edfb6f0642
11:103048381 DYNC2H1 A>T	11	103048381	103048381	A	T	DYNC2H1				NC_000011.9:g.103048381A>T	VUS	1 lab	ee0159108d
16:31201105 FUS C>G	16	31201105	31201105	C	G	FUS	c.1056C>G	NM_004960.4	NP_004951.1:p.(Asp352Glu)	NC_000016.9:g.31201105C>G	VUS	1 lab	164335a3a4
12:32945645 PKP2 CT>C	12	32945645	32945647	CT	C	PKP2	c.2377del	NM_001005242.3	NP_001005242.2:p.(Ser793ValfsTer94)	NC_000012.11:g.32945647del	(Likely) pathogenic	1 lab	ee020287af
1:236924466 ACTN2 C>CA	1	236924466	236924467	C	CA	ACTN2	c.2519_2520insA	NM_001103.3	NP_001094.1:p.(Asp841Ter)	NC_000001.10:g.236924466_236924467insA	(Likely) pathogenic	1 lab	ee0558974a
2:179633626 TTN G>A	2	179633626	179633626	G	A	TTN	c.8937C>T	NM_001267550.2	NP_001254479.2:p.(Asn2979=)	NC_000002.11:g.179633626G>A	(Likely) benign	1 lab	ee080e8b71
14:70517796 SLC8A3 G>T	14	70517796	70517796	G	T	SLC8A3	c.2060C>A	NM_183002.1	NP_892114.1:p.(Thr687Lys)	NC_000014.8:g.70517796G>T	VUS	1 lab	ee0dbf959d
3:38888611 SCN11A A>G	3	38888611	38888611	A	G	SCN11A	c.4950T>C	NM_001349253.2	NP_001336182.1:p.(Ala1650=)	NC_000003.11:g.38888611A>G	(Likely) benign	1 lab	ee0e968e98
X:53565332 HUWE1 A>C	X	53565332	53565332	A	C	HUWE1	c.11962T>G	NM_031407.7	NP_113584.3:p.(Tyr3988Asp)	NC_000023.10:g.53565332A>C	VUS	1 lab	17a98b5d5f
1:155448115 ASH1L G>A	1	155448115	155448115	G	A	ASH1L	c.4546C>T	NM_018489.2	NP_060959.2:p.(Arg1516Cys)	NC_000001.10:g.155448115G>A	VUS	1 lab	ee142fd604
11:121008286 TECTA G>A	11	121008286	121008286	G	A	TECTA				NC_000011.9:g.121008286G>A	VUS	1 lab	ee158b5d53
2:200246456 SATB2 TC>T	2	200246456	200246457	TC	T	SATB2				NC_000002.11:g.200246457del	(Likely) pathogenic	1 lab	ee1722ef64
18:77171390 NFATC1 C>A	18	77171390	77171390	C	A	NFATC1	c.1115C>A	NM_001278669.2	NP_001265598.1:p.(Ser372Tyr)	NC_000018.9:g.77171390C>A	VUS	1 lab	1646a89e81
1:145416518 HJV G>A	1	145416518	145416518	G	A	HJV	c.863G>A	NM_213653.3	NP_998818.1:p.(Arg288Gln)	NC_000001.10:g.145416518G>A	VUS	1 lab	ee17e33046
6:157469979 ARID1B C>T	6	157469979	157469979	C	T	ARID1B	c.3022C>T	NM_001371656.1	NP_001358585.1:p.(Gln1008Ter)	NC_000006.11:g.157469979C>T	(Likely) pathogenic	1 lab	164fedf91d
20:2577813 TMC2 C>T	20	2577813	2577813	C	T	TMC2	c.1093C>T	NM_080751.2	NP_542789.2:p.(Gln365Ter)	NC_000020.10:g.2577813C>T	VUS	1 lab	ee1bf263a1
5:112177345 APC AG>A	5	112177345	112177346	AG	A	APC	c.6055del	NM_000038.6	NP_000029.2:p.(Val2019PhefsTer25)	NC_000005.9:g.112177346del	(Likely) pathogenic	1 lab	ee1d5d0e53
1:68895610 RPE65 C>A	1	68895610	68895610	C	A	RPE65	c.1451G>T	NM_000329.3	NP_000320.1:p.(Gly484Val)	NC_000001.10:g.68895610C>A	(Likely) pathogenic	1 lab	ee22b521ea
2:215632316 BARD1 C>T	2	215632316	215632316	C	T	BARD1	c.1458G>A	NM_000465.4	NP_000456.2:p.(Leu486=)	NC_000002.11:g.215632316C>T	(Likely) benign	1 lab	ee24223eae
1:165179974 LMX1A G>A	1	165179974	165179974	G	A	LMX1A	c.709C>T	NM_177398.4	NP_796372.1:p.(Arg237Cys)	NC_000001.10:g.165179974G>A	VUS	1 lab	ee2606392d
9:117848394 TNC T>C	9	117848394	117848394	T	C	TNC	c.1616A>G	NM_002160.4	NP_002151.2:p.(Gln539Arg)	NC_000009.11:g.117848394T>C	(Likely) benign	1 lab	ee2754e908
6:7568705 DSP G>A	6	7568705	7568705	G	A	DSP	c.1302G>A	NM_004415.3	NP_004406.2:p.(Gln434=)	NC_000006.11:g.7568705G>A	(Likely) benign	1 lab	ee28fe3acc
14:105418337 AHNAK2 G>A	14	105418337	105418337	G	A	AHNAK2	c.3451C>T	NM_138420.4	NP_612429.2:p.(Leu1151=)	NC_000014.8:g.105418337G>A	(Likely) benign	1 lab	ee2a0f7f8c
6:112466004 LAMA4 C>A	6	112466004	112466004	C	A	LAMA4	c.2485G>T	NM_001105206.2	NP_001098676.2:p.(Ala829Ser)	NC_000006.11:g.112466004C>A	VUS	1 lab	ee3261a96b
3:38618251 SCN5A C>T	3	38618251	38618251	C	T	SCN5A	c.3412G>A	NM_198056.2	NP_932173.1:p.(Glu1138Lys)	NC_000003.11:g.38618251C>T	VUS	1 lab	ee337b501a
X:153198014 NAA10 G>A	X	153198014	153198014	G	A	NAA10	c.203C>T	NM_003491.3	NP_003482.1:p.(Pro68Leu)	NC_000023.10:g.153198014G>A	(Likely) benign	1 lab	ee35920d5f
X:7175386 STS C>T	X	7175386	7175386	C	T	STS	c.256C>T	NM_000351.5	NP_000342.2:p.(Arg86Trp)	NC_000023.10:g.7175386C>T	(Likely) pathogenic	1 lab	ee3c7b7478
9:98774671 ERCC6L2 A>C	9	98774671	98774671	A	C	ERCC6L2				NC_000009.11:g.98774671A>C	(Likely) benign	1 lab	17b73b2267
2:167266352 SCN7A T>C	2	167266352	167266352	T	C	SCN7A	c.3805A>G	NM_002976.4	NP_002967.2:p.(Met1269Val)	NC_000002.11:g.167266352T>C	VUS	1 lab	ee3ffc0189
13:96212699 CLDN10 C>G	13	96212699	96212699	C	G	CLDN10	c.446C>G	NM_006984.4	NP_008915.1:p.(Pro149Arg)	NC_000013.10:g.96212699C>G	VUS	1 lab	ee48028b4b
6:129828788 LAMA2 G>A	6	129828788	129828788	G	A	LAMA2	c.8857+1G>A	NM_000426.3	NP_000417.2:p.?	NC_000006.11:g.129828788G>A	(Likely) pathogenic	1 lab	17b9b85719
16:23640969 PALB2 C>T	16	23640969	23640969	C	T	PALB2	c.2506G>A	NM_024675.3	NP_078951.2:p.(Val836Ile)	NC_000016.9:g.23640969C>T	(Likely) benign	1 lab	ee499515a1
15:93510649 CHD2 C>T	15	93510649	93510649	C	T	CHD2	c.2095C>T	NM_001271.4	NP_001262.3:p.(Arg699Trp)	NC_000015.9:g.93510649C>T	(Likely) pathogenic	1 lab	ee4a5b3d4b
5:112173556 APC GA>G	5	112173556	112173559	GA	G	APC	c.2268del	NM_000038.6	NP_000029.2:p.(Lys756AsnfsTer5)	NC_000005.9:g.112173559del	(Likely) pathogenic	1 lab	ee4f3135a7
3:38674537 SCN5A T>C	3	38674537	38674537	T	C	SCN5A	c.262A>G	NM_198056.2	NP_932173.1:p.(Ser88Gly)	NC_000003.11:g.38674537T>C	VUS	1 lab	ee51f5f2a9
2:179505296 TTN C>A	2	179505296	179505296	C	A	TTN	c.40695G>T	NM_001267550.2	NP_001254479.2:p.(Arg13565Ser)	NC_000002.11:g.179505296C>A	(Likely) benign	1 lab	ee52afdd30
19:18194272 IL12RB1 G>A	19	18194272	18194272	G	A	IL12RB1	c.94C>T	NM_005535.3	NP_005526.1:p.(Gln32Ter)	NC_000019.9:g.18194272G>A	(Likely) pathogenic	1 lab	ee537c49c7
7:44283019 CAMK2B C>T	7	44283019	44283019	C	T	CAMK2B	c.517+5G>A	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44283019C>T	VUS	1 lab	fe1f33ac8c
X:107936155 COL4A5 G>A	X	107936155	107936155	G	A	COL4A5	c.4706G>A	NM_033380.2	NP_203699.1:p.(Arg1569Gln)	NC_000023.10:g.107936155G>A	(Likely) pathogenic	1 lab	ee5814dbd4
2:241808685 AGXT C>T	2	241808685	241808685	C	T	AGXT	c.264C>T	NM_000030.2	NP_000021.1:p.(Ala88=)	NC_000002.11:g.241808685C>T	(Likely) benign	1 lab	ee59959737
2:220012495 NHEJ1 G>A	2	220012495	220012495	G	A	NHEJ1	c.413C>T	NM_024782.3	NP_079058.1:p.(Pro138Leu)	NC_000002.11:g.220012495G>A	(Likely) pathogenic	1 lab	ee5c277e26
11:65480840 KAT5 G>A	11	65480840	65480840	G	A	KAT5	c.307G>A	NM_006388.4	NP_006379.2:p.(Gly103Arg)	NC_000011.9:g.65480840G>A	VUS	1 lab	165584e4de
12:80899901 MISSING C>A	12	80899901	80899901	C	A	MISSING				NC_000012.11:g.80899901C>A	(Likely) benign	1 lab	ee5f2cca1e
6:112575177 LAMA4 C>A	6	112575177	112575177	C	A	LAMA4	c.176G>T	NM_001105206.2	NP_001098676.2:p.(Arg59Leu)	NC_000006.11:g.112575177C>A	(Likely) benign	1 lab	ee625bbf1c
1:237789117 RYR2 A>G	1	237789117	237789117	A	G	RYR2	c.6166+13A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237789117A>G	(Likely) benign	1 lab	1655ad598d
17:18059591 MYO15A T>G	17	18059591	18059591	T	G	MYO15A	c.8542T>G	NM_016239.3	NP_057323.3:p.(Ser2848Ala)	NC_000017.10:g.18059591T>G	VUS	1 lab	ee666a5045
17:41223028 BRCA1 C>A	17	41223028	41223028	C	A	BRCA1	c.4903G>T	NM_007294.3	NP_009225.1:p.(Glu1635Ter)	NC_000017.10:g.41223028C>A	(Likely) pathogenic	1 lab	ee670f6900
5:147468814 SPINK5 T>G	5	147468814	147468814	T	G	SPINK5	c.475-243T>G	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147468814T>G	(Likely) pathogenic	1 lab	ee68f83273
16:9928076 GRIN2A C>T	16	9928076	9928076	C	T	GRIN2A	c.1663G>A	NM_000833.5	NP_000824.1:p.(Ala555Thr)	NC_000016.9:g.9928076C>T	VUS	1 lab	ee6c4f4e38
11:108190628 ATM A>G	11	108190628	108190628	A	G	ATM	c.6348-53A>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190628A>G	(Likely) benign	1 lab	ee6e7fc617
19:36339212 NPHS1 A>C	19	36339212	36339212	A	C	NPHS1	c.1258T>G	NM_004646.3	NP_004637.1:p.(Phe420Val)	NC_000019.9:g.36339212A>C	VUS	1 lab	ee71a1427d
19:42473723 ATP1A3 T>G	19	42473723	42473723	T	G	ATP1A3				NC_000019.9:g.42473723T>G	VUS	1 lab	ee71c7f681
2:219922380 IHH C>T	2	219922380	219922380	C	T	IHH	c.352G>A	NM_002181.3	NP_002172.2:p.(Val118Met)	NC_000002.11:g.219922380C>T	(Likely) pathogenic	1 lab	ee7755c9d3
1:1724683 GNB1 C>A	1	1724683	1724683	C	A	GNB1	c.497+1G>T	NM_002074.4	NP_002065.1:p.?	NC_000001.10:g.1724683C>A	VUS	1 lab	ee7897090b
2:74590126 DCTN1 C>A	2	74590126	74590126	C	A	DCTN1	c.3524G>T	NM_004082.4	NP_004073.2:p.(Ser1175Ile)	NC_000002.11:g.74590126C>A	VUS	1 lab	ee7ed24da8
2:166852563 SCN1A A>G	2	166852563	166852563	A	G	SCN1A	c.4541T>C	NM_001165963.1	NP_001159435.1:p.(Leu1514Ser)	NC_000002.11:g.166852563A>G	VUS	1 lab	ee80599df8
16:23652636 PALB2 C>G	16	23652636	23652636	C	G	PALB2	c.-158G>C	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23652636C>G	(Likely) benign	1 lab	ee8249d6ac
X:129270060 AIFM1 C>T	X	129270060	129270060	C	T	AIFM1	c.1265G>A	NM_004208.4	NP_004199.1:p.(Arg422Gln)	NC_000023.10:g.129270060C>T	(Likely) pathogenic	1 lab	ee87c6aeca
17:41277350 BRCA1 C>T	17	41277350	41277350	C	T	BRCA1	c.-82G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41277350C>T	(Likely) benign	1 lab	ee8b940860
2:73718344 ALMS1 C>T	2	73718344	73718344	C	T	ALMS1	c.9261C>T	NM_015120.4	NP_055935.4:p.(Asp3087=)	NC_000002.11:g.73718344C>T	(Likely) benign	1 lab	ee8ce5d439
17:57775048 PTRH2 G>A	17	57775048	57775048	G	A	PTRH2	c.292C>T	NM_016077.3	NP_057161.1:p.(Gln98Ter)	NC_000017.10:g.57775048G>A	VUS	1 lab	ee9664504c
2:215674204 BARD1 A>T	2	215674204	215674204	A	T	BARD1	c.90T>A	NM_000465.4	NP_000456.2:p.(Gly30=)	NC_000002.11:g.215674204A>T	(Likely) benign	1 lab	ee96ea9554
1:111147158 KCNA2 G>C	1	111147158	111147158	G	C	KCNA2	c.247C>G	NM_004974.4	NP_004965.1:p.(Pro83Ala)	NC_000001.10:g.111147158G>C	VUS	1 lab	ee96f5a544
1:17326994 ATP13A2 G>C	1	17326994	17326994	G	C	ATP13A2	c.741C>G	NM_022089.2	NP_071372.1:p.(Ser247Arg)	NC_000001.10:g.17326994G>C	VUS	1 lab	ee99fed348
8:10466003 RP1L1 GCTGGGCCTCCCCTTCAGCCTC>G	8	10466003	10466030	GCTGGGCCTCCCCTTCAGCCTC	G	RP1L1	c.5584_5604del	NM_178857.5	NP_849188.4:p.(Glu1862_Gln1868del)	NC_000008.10:g.10466010_10466030del	(Likely) benign	1 lab	ee9ac0661e
1:228494163 OBSCN C>T	1	228494163	228494163	C	T	OBSCN	c.14621C>T	NM_001271223.2	NP_001258152.2:p.(Thr4874Ile)	NC_000001.10:g.228494163C>T	VUS	1 lab	eea0499300
19:14030642 CC2D1A A>G	19	14030642	14030642	A	G	CC2D1A	c.1234A>G	NM_017721.4	NP_060191.3:p.(Ile412Val)	NC_000019.9:g.14030642A>G	VUS	1 lab	eea098db49
4:187522471 FAT1 C>A	4	187522471	187522471	C	A	FAT1	c.11592G>T	NM_005245.4	NP_005236.2:p.(Thr3864=)	NC_000004.11:g.187522471C>A	(Likely) benign	1 lab	17c7640e88
17:29687825 NF1 A>C	17	29687825	29687825	A	C	NF1	c.8377+104A>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29687825A>C	(Likely) benign	1 lab	eea3690e2e
X:153217992 HCFC1 G>A	X	153217992	153217992	G	A	HCFC1	c.4915C>T	NM_005334.2	NP_005325.2:p.(Leu1639Phe)	NC_000023.10:g.153217992G>A	(Likely) benign	1 lab	eea37dfc64
2:179666983 TTN G>A	2	179666983	179666983	G	A	TTN	c.177C>T	NM_001267550.2	NP_001254479.2:p.(Ser59=)	NC_000002.11:g.179666983G>A	(Likely) benign	1 lab	eea3bcbb18
20:62065225 KCNQ2 G>C	20	62065225	62065225	G	C	KCNQ2				NC_000020.10:g.62065225G>C	(Likely) pathogenic	1 lab	eea4ca96cb
1:161180389 NDUFS2 T>C	1	161180389	161180389	T	C	NDUFS2	c.875T>C	NM_001377299.1	NP_001364228.1:p.(Met292Thr)	NC_000001.10:g.161180389T>C	(Likely) pathogenic	1 lab	eea59608c4
3:124454057 UMPS C>T	3	124454057	124454057	C	T	UMPS	c.274C>T	NM_000373.4	NP_000364.1:p.(Pro92Ser)	NC_000003.11:g.124454057C>T	VUS	1 lab	eea5c8ca1e
X:153588877 FLNA C>T	X	153588877	153588877	C	T	FLNA				NC_000023.10:g.153588877C>T	VUS	1 lab	eea746ecb0
18:44181227 LOXHD1 C>T	18	44181227	44181227	C	T	LOXHD1	c.1087G>A	NM_144612.6	NP_653213.6:p.(Val363Ile)	NC_000018.9:g.44181227C>T	(Likely) benign	1 lab	eea77efba3
1:11851317 MTHFR G>A	1	11851317	11851317	G	A	MTHFR	c.1699C>T	NM_005957.4	NP_005948.3:p.(Arg567Ter)	NC_000001.10:g.11851317G>A	(Likely) pathogenic	1 lab	eeaad9184f
12:49579493 TUBA1A A>G	12	49579493	49579493	A	G	TUBA1A	c.656T>C	NM_006009.3	NP_006000.2:p.(Ile219Thr)	NC_000012.11:g.49579493A>G	(Likely) pathogenic	1 lab	eeab674955
X:48649519 GATA1 G>A	X	48649519	48649519	G	A	GATA1	c.3G>A	NM_002049.3	NP_002040.1:p.(Met1?)	NC_000023.10:g.48649519G>A	(Likely) pathogenic	1 lab	eead60a46b
X:53579408 HUWE1 G>C	X	53579408	53579408	G	C	HUWE1	c.8751-6C>G	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53579408G>C	(Likely) benign	1 lab	eeaff0eaab
9:2718497 KCNV2 C>T	9	2718497	2718497	C	T	KCNV2	c.758C>T	NM_133497.3	NP_598004.1:p.(Pro253Leu)	NC_000009.11:g.2718497C>T	VUS	1 lab	eeb385791d
3:129252542 RHO G>A	3	129252542	129252542	G	A	RHO	c.1028G>A	NM_000539.3	NP_000530.1:p.(Ser343Asn)	NC_000003.11:g.129252542G>A	VUS	1 lab	eeb435208e
12:111886019 SH2B3 G>A	12	111886019	111886019	G	A	SH2B3	c.1641G>A	NM_005475.2	NP_005466.1:p.(Val547=)	NC_000012.11:g.111886019G>A	(Likely) benign	1 lab	17cdf513a6
2:73678539 MISSING C>T	2	73678539	73678539	C	T	MISSING				NC_000002.11:g.73678539C>T	(Likely) benign	1 lab	eeb7d0f9c0
16:89346049 ANKRD11 C>G	16	89346049	89346049	C	G	ANKRD11	c.6901G>C	NM_013275.6	NP_037407.4:p.(Ala2301Pro)	NC_000016.9:g.89346049C>G	(Likely) benign	1 lab	eeb90970cd
7:94042422 COL1A2 G>A	7	94042422	94042422	G	A	COL1A2	c.1531G>A	NM_000089.3	NP_000080.2:p.(Gly511Ser)	NC_000007.13:g.94042422G>A	(Likely) pathogenic	1 lab	eeba10ebe2
14:69358900 ACTN1 T>G	14	69358900	69358900	T	G	ACTN1	c.956A>C	NM_001102.3	NP_001093.1:p.(Tyr319Ser)	NC_000014.8:g.69358900T>G	VUS	1 lab	eebbc4912c
3:4712500 ITPR1 G>A	3	4712500	4712500	G	A	ITPR1	c.2049G>A	NM_002222.5	NP_002213.5:p.(Trp683Ter)	NC_000003.11:g.4712500G>A	(Likely) pathogenic	1 lab	eebce476d2
14:61190590 SIX4 T>A	14	61190590	61190590	T	A	SIX4	c.203A>T	NM_017420.5	NP_059116.3:p.(Glu68Val)	NC_000014.8:g.61190590T>A	VUS	1 lab	166043fc0a
17:17136081 FLCN C>T	17	17136081	17136081	C	T	FLCN	c.-114+21G>A	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17136081C>T	(Likely) benign	1 lab	eebed4c84e
14:23900840 MYH7 G>T	14	23900840	23900840	G	T	MYH7	c.686C>A	NM_000257.2	NP_000248.2:p.(Ala229Asp)	NC_000014.8:g.23900840G>T	VUS	1 lab	17d0ecff88
1:152279841 FLG G>C	1	152279841	152279841	G	C	FLG	c.7521C>G	NM_002016.1	NP_002007.1:p.(His2507Gln)	NC_000001.10:g.152279841G>C	(Likely) benign	1 lab	eec0ff16a5
16:3929881 CREBBP T>C	16	3929881	3929881	T	C	CREBBP	c.37A>G	NM_004380.2	NP_004371.2:p.(Lys13Glu)	NC_000016.9:g.3929881T>C	(Likely) pathogenic	1 lab	eec10fe63c
5:14496986 TRIO A>G	5	14496986	14496986	A	G	TRIO	c.7881-2A>G	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14496986A>G	(Likely) pathogenic	1 lab	eec27b290b
2:99013075 CNGA3 G>GC	2	99013075	99013076	G	GC	CNGA3	c.1443dup	NM_001298.3	NP_001289.1:p.(Ile482HisfsTer6)	NC_000002.11:g.99013076dup	(Likely) pathogenic	1 lab	eec4410774
4:3534117 LRPAP1 G>T	4	3534117	3534117	G	T	LRPAP1				NC_000004.11:g.3534117G>T	(Likely) pathogenic	1 lab	eec50c1f7c
5:36985538 NIPBL A>G	5	36985538	36985538	A	G	NIPBL	c.2256A>G	NM_015384.5	NP_056199.2:p.(Glu752=)	NC_000005.9:g.36985538A>G	(Likely) benign	1 lab	16636eb1f9
3:101038506 IMPG2 G>C	3	101038506	101038506	G	C	IMPG2	c.256C>G	NM_016247.3	NP_057331.2:p.(Pro86Ala)	NC_000003.11:g.101038506G>C	VUS	1 lab	eecb6f0085
17:41228521 BRCA1 C>A	17	41228521	41228521	C	A	BRCA1	c.4468G>T	NM_007294.4	NP_009225.1:p.(Glu1490Ter)	NC_000017.10:g.41228521C>A	(Likely) pathogenic	1 lab	eece0ebd81
12:2788615 CACNA1C C>G	12	2788615	2788615	C	G	CACNA1C	c.5241C>G	NM_199460.3	NP_955630.3:p.(Ala1747=)	NC_000012.11:g.2788615C>G	(Likely) benign	1 lab	eed1bbaad0
17:78082566 GAA G>A	17	78082566	78082566	G	A	GAA	c.1265G>A	NM_000152.4	NP_000143.2:p.(Arg422Gln)	NC_000017.10:g.78082566G>A	(Likely) benign	1 lab	eed433ae77
2:48033551 FBXO11 C>G	2	48033551	48033551	C	G	FBXO11				NC_000002.11:g.48033551C>G	(Likely) benign	1 lab	eed4bd5484
16:70534984 COG4 G>T	16	70534984	70534984	G	T	COG4	c.1072C>A	NM_015386.2	NP_056201.2:p.(Pro358Thr)	NC_000016.9:g.70534984G>T	VUS	1 lab	eed89c9d5d
15:34526135 SLC12A6 G>A	15	34526135	34526135	G	A	SLC12A6	c.3400C>T	NM_133647.2	NP_598408.1:p.(Arg1134Ter)	NC_000015.9:g.34526135G>A	(Likely) pathogenic	1 lab	166597e173
20:40045428 CHD6 C>T	20	40045428	40045428	C	T	CHD6	c.6286G>A	NM_032221.5	NP_115597.3:p.(Val2096Met)	NC_000020.10:g.40045428C>T	VUS	1 lab	1667ff71fd
11:27679671 BDNF C>T	11	27679671	27679671	C	T	BDNF	c.441G>A	NM_170735.5	NP_733931.1:p.(Trp147Ter)	NC_000011.9:g.27679671C>T	(Likely) pathogenic	1 lab	17d4e5272a
13:32900703 BRCA2 C>T	13	32900703	32900703	C	T	BRCA2	c.584C>T	NM_000059.3	NP_000050.2:p.(Ser195Leu)	NC_000013.10:g.32900703C>T	VUS	1 lab	eee28bfa0a
17:59885849 BRIP1 C>T	17	59885849	59885849	C	T	BRIP1	c.897G>A	NM_032043.3	NP_114432.2:p.(Met299Ile)	NC_000017.10:g.59885849C>T	VUS	1 lab	eee3c32dd3
8:11616547 GATA4 C>G	8	11616547	11616547	C	G	GATA4	c.*563C>G	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616547C>G	(Likely) benign	1 lab	eee7214d06
2:179584293 TTN C>T	2	179584293	179584293	C	T	TTN	c.23926G>A	NM_001267550.2	NP_001254479.2:p.(Val7976Ile)	NC_000002.11:g.179584293C>T	VUS	1 lab	eee8764167
6:31637611 CSNK2B A>G	6	31637611	31637611	A	G	CSNK2B	c.558-2A>G	NM_001320.7	NP_001311.3:p.?	NC_000006.11:g.31637611A>G	(Likely) pathogenic	1 lab	eeec2384c3
8:30921935 WRN G>A	8	30921935	30921935	G	A	WRN	c.340G>A	NM_000553.4	NP_000544.2:p.(Val114Ile)	NC_000008.10:g.30921935G>A	(Likely) benign	1 lab	eeec286022
1:241667450 FH T>G	1	241667450	241667450	T	G	FH	c.1000A>C	NM_000143.4	NP_000134.2:p.(Ser334Arg)	NC_000001.10:g.241667450T>G	(Likely) pathogenic	1 lab	eeedf96575
7:98792936 KPNA7 G>C	7	98792936	98792936	G	C	KPNA7	c.310C>G	NM_001145715.3	NP_001139187.1:p.(Pro104Ala)	NC_000007.13:g.98792936G>C	VUS	1 lab	166a0f7a6e
16:2124203 TSC2 C>T	16	2124203	2124203	C	T	TSC2	c.2358C>T	NM_000548.3	NP_000539.2:p.(Arg786=)	NC_000016.9:g.2124203C>T	(Likely) benign	1 lab	17de8285a6
5:45262288 HCN1 C>G	5	45262288	45262288	C	G	HCN1	c.2408G>C	NM_021072.3	NP_066550.2:p.(Arg803Thr)	NC_000005.9:g.45262288C>G	VUS	1 lab	eef680a794
1:981131 AGRN A>G	1	981131	981131	A	G	AGRN	c.2555A>G	NM_198576.4	NP_940978.2:p.(Gln852Arg)	NC_000001.10:g.981131A>G	(Likely) benign	1 lab	239a8bd187
4:126336266 FAT4 A>G	4	126336266	126336266	A	G	FAT4				NC_000004.11:g.126336266A>G	(Likely) benign	1 lab	17e0333040
3:38639318 SCN5A T>C	3	38639318	38639318	T	C	SCN5A	c.2164A>G	NM_001099404.1	NP_001092874.1:p.(Thr722Ala)	NC_000003.11:g.38639318T>C	VUS	1 lab	17e4d3146b
2:179659088 TTN G>A	2	179659088	179659088	G	A	TTN	c.1398+38C>T	NM_001267550.1	NP_001254479.1:p.?	NC_000002.11:g.179659088G>A	(Likely) benign	1 lab	eef986b577
15:33927821 RYR3 C>T	15	33927821	33927821	C	T	RYR3	c.3182C>T	NM_001036.6	NP_001027.3:p.(Ser1061Leu)	NC_000015.9:g.33927821C>T	VUS	1 lab	166e87ca1f
8:42694349 THAP1 A>G	8	42694349	42694349	A	G	THAP1	c.247T>C	NM_018105.3	NP_060575.1:p.(Cys83Arg)	NC_000008.10:g.42694349A>G	VUS	1 lab	eefe27d1d3
1:216373413 USH2A A>G	1	216373413	216373413	A	G	USH2A	c.3367T>C	NM_206933.4	NP_996816.3:p.(Tyr1123His)	NC_000001.10:g.216373413A>G	VUS	1 lab	eeff144e47
2:223161737 PAX3 C>A	2	223161737	223161737	C	A	PAX3	c.281G>T	NM_181459.3	NP_852124.1:p.(Gly94Val)	NC_000002.11:g.223161737C>A	VUS	1 lab	eeffe65576
7:1538669 INTS1 T>C	7	1538669	1538669	T	C	INTS1	c.1079A>G	NM_001080453.3	NP_001073922.2:p.(Tyr360Cys)	NC_000007.13:g.1538669T>C	VUS	1 lab	ef03bd9a70
19:50909491 POLD1 G>A	19	50909491	50909491	G	A	POLD1	c.1295G>A	NM_002691.3	NP_002682.2:p.(Arg432Gln)	NC_000019.9:g.50909491G>A	VUS	1 lab	ef0579112c
1:10035731 NMNAT1 G>A	1	10035731	10035731	G	A	NMNAT1	c.197G>A	NM_022787.4	NP_073624.2:p.(Arg66Gln)	NC_000001.10:g.10035731G>A	(Likely) pathogenic	1 lab	ef060df6fd
13:39265460 FREM2 T>A	13	39265460	39265460	T	A	FREM2	c.3979T>A	NM_207361.6	NP_997244.4:p.(Leu1327Ile)	NC_000013.10:g.39265460T>A	(Likely) benign	1 lab	17e9124ca2
11:2154803 INS-IGF2 A>AGTAC	11	2154803	2154809	A	AGTAC	INS-IGF2				NC_000011.9:g.2154806_2154809dup	(Likely) pathogenic	1 lab	ef0a8089c4
6:33141486 COL11A2 C>T	6	33141486	33141486	C	T	COL11A2	c.2620G>A	NM_080680.2	NP_542411.2:p.(Gly874Arg)	NC_000006.11:g.33141486C>T	VUS	1 lab	ef0b816cdf
1:196876428 CFHR4 T>A	1	196876428	196876428	T	A	CFHR4	c.617-18T>A	NM_001201550.3	NP_001188479.1:p.?	NC_000001.10:g.196876428T>A	(Likely) benign	1 lab	ef0bcce9b0
X:73963116 NEXMIF G>A	X	73963116	73963116	G	A	NEXMIF	c.1276C>T	NM_001008537.2	NP_001008537.1:p.(Gln426Ter)	NC_000023.10:g.73963116G>A	(Likely) pathogenic	1 lab	ef0e1667c4
14:69445679 ACTN1 T>C	14	69445679	69445679	T	C	ACTN1	c.95A>G	NM_001130004.2	NP_001123476.1:p.(Gln32Arg)	NC_000014.8:g.69445679T>C	(Likely) pathogenic	1 lab	ef0ee7564a
6:129775375 LAMA2 G>A	6	129775375	129775375	G	A	LAMA2	c.6649G>A	NM_000426.3	NP_000417.2:p.(Val2217Ile)	NC_000006.11:g.129775375G>A	(Likely) benign	1 lab	ef0f945d05
5:140907201 DIAPH1 C>T	5	140907201	140907201	C	T	DIAPH1	c.3212G>A	NM_005219.4	NP_005210.3:p.(Arg1071His)	NC_000005.9:g.140907201C>T	VUS	1 lab	ef126d058e
1:22216604 HSPG2 C>G	1	22216604	22216604	C	G	HSPG2	c.444G>C	NM_005529.7	NP_005520.4:p.(Leu148=)	NC_000001.10:g.22216604C>G	(Likely) benign	1 lab	16720b0009
7:38798083 VPS41 T>C	7	38798083	38798083	T	C	VPS41	c.1423-2A>G	NM_014396.3	NP_055211.2:p.?	NC_000007.13:g.38798083T>C	VUS	1 lab	ff83a7fbd4
17:29422388 NF1 G>C	17	29422388	29422388	G	C	NF1	c.60+1G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29422388G>C	(Likely) pathogenic	1 lab	ef1c289cb9
X:41333869 NYX A>C	X	41333869	41333869	A	C	NYX	c.1163A>C	NM_022567.2	NP_072089.1:p.(Asp388Ala)	NC_000023.10:g.41333869A>C	VUS	1 lab	ef1e5bf526
11:111958698 SDHD G>A	11	111958698	111958698	G	A	SDHD	c.169+1G>A	NM_003002.3	NP_002993.1:p.?	NC_000011.9:g.111958698G>A	(Likely) pathogenic	1 lab	ef1f3476df
12:57567762 LRP1 C>T	12	57567762	57567762	C	T	LRP1	c.3546C>T	NM_002332.2	NP_002323.2:p.(Cys1182=)	NC_000012.11:g.57567762C>T	(Likely) benign	1 lab	ef20017546
18:47777314 CFAP53 A>G	18	47777314	47777314	A	G	CFAP53	c.810T>C	NM_145020.4	NP_659457.2:p.(Asn270=)	NC_000018.9:g.47777314A>G	(Likely) benign	1 lab	ef213faaa5
14:23883224 MYH7 C>T	14	23883224	23883224	C	T	MYH7	c.5647G>A	NM_000257.3	NP_000248.2:p.(Glu1883Lys)	NC_000014.8:g.23883224C>T	VUS	1 lab	ef22760f4f
X:12903659 TLR7 A>T	X	12903659	12903659	A	T	TLR7	c.32A>T	NM_016562.3	NP_057646.1:p.(Gln11Leu)	NC_000023.10:g.12903659A>T	(Likely) benign	1 lab	ef24989140
2:166893045 SCN1A A>T	2	166893045	166893045	A	T	SCN1A	c.2947-5T>A	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166893045A>T	(Likely) benign	1 lab	17f125d6b9
8:117878913 RAD21 A>G	8	117878913	117878913	A	G	RAD21	c.56T>C	NM_006265.3	NP_006256.1:p.(Leu19Pro)	NC_000008.10:g.117878913A>G	(Likely) pathogenic	1 lab	ef2b247f50
10:73461805 CDH23 G>A	10	73461805	73461805	G	A	CDH23	c.2424G>A	NM_022124.5	NP_071407.4:p.(Gly808=)	NC_000010.10:g.73461805G>A	(Likely) benign	1 lab	ef2c029816
11:35308425 SLC1A2 C>T	11	35308425	35308425	C	T	SLC1A2				NC_000011.9:g.35308425C>T	VUS	1 lab	ef2d5eccdf
11:111899327 DLAT T>G	11	111899327	111899327	T	G	DLAT	c.470T>G	NM_001931.5	NP_001922.2:p.(Val157Gly)	NC_000011.9:g.111899327T>G	VUS	1 lab	ef2d99f936
19:39061334 RYR1 G>A	19	39061334	39061334	G	A	RYR1	c.13746+1G>A	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39061334G>A	(Likely) pathogenic	1 lab	ef2f3d630a
12:2224471 CACNA1C C>A	12	2224471	2224471	C	A	CACNA1C	c.131C>A	NM_000719.6	NP_000710.5:p.(Pro44His)	NC_000012.11:g.2224471C>A	VUS	1 lab	ef2f91b4d5
19:36340030 NPHS1 G>C	19	36340030	36340030	G	C	NPHS1	c.860C>G	NM_004646.3	NP_004637.1:p.(Thr287Arg)	NC_000019.9:g.36340030G>C	VUS	1 lab	ef2f99c1d4
9:14313500 NFIB G>A	9	14313500	14313500	G	A	NFIB	c.11C>T	NM_001190737.2	NP_001177666.1:p.(Ser4Phe)	NC_000009.11:g.14313500G>A	VUS	1 lab	1686766d3b
12:49578864 TUBA1A C>T	12	49578864	49578864	C	T	TUBA1A	c.1285G>A	NM_006009.4	NP_006000.2:p.(Glu429Lys)	NC_000012.11:g.49578864C>T	(Likely) pathogenic	1 lab	ef356667cd
15:48766512 FBN1 T>C	15	48766512	48766512	T	C	FBN1	c.4150A>G	NM_000138.4	NP_000129.3:p.(Met1384Val)	NC_000015.9:g.48766512T>C	VUS	1 lab	ef3d4e37dc
17:62025363 SCN4A C>T	17	62025363	62025363	C	T	SCN4A	c.3205G>A	NM_000334.4	NP_000325.4:p.(Asp1069Asn)	NC_000017.10:g.62025363C>T	VUS	1 lab	ef3d7bb978
10:73569731 CDH23 C>G	10	73569731	73569731	C	G	CDH23	c.8877C>G	NM_022124.5	NP_071407.4:p.(Ile2959Met)	NC_000010.10:g.73569731C>G	VUS	1 lab	ef3e5450e4
14:51089925 ATL1 G>A	14	51089925	51089925	G	A	ATL1	c.1078G>A	NM_015915.4	NP_056999.2:p.(Val360Met)	NC_000014.8:g.51089925G>A	VUS	1 lab	ef3f58af91
6:102503450 GRIK2 GA>G	6	102503450	102503454	GA	G	GRIK2	c.2561del	NM_021956.5	NP_068775.1:p.(Lys854ArgfsTer9)	NC_000006.11:g.102503454del	VUS	1 lab	167df56c3a
7:107342471 SLC26A4 T>C	7	107342471	107342471	T	C	SLC26A4	c.2003T>C	NM_000441.1	NP_000432.1:p.(Leu668Pro)	NC_000007.13:g.107342471T>C	VUS	1 lab	ef46087dcb
1:103455102 COL11A1 T>C	1	103455102	103455102	T	C	COL11A1	c.2366A>G	NM_001854.3	NP_001845.3:p.(Lys789Arg)	NC_000001.10:g.103455102T>C	VUS	1 lab	ef460dc471
1:171083232 FMO3 G>T	1	171083232	171083232	G	T	FMO3	c.913G>T	NM_001002294.2	NP_001002294.1:p.(Glu305Ter)	NC_000001.10:g.171083232G>T	(Likely) pathogenic	1 lab	ef46def1fb
2:48033434 MSH6 AACTC>A	2	48033434	48033441	AACTC	A	MSH6	c.3742_3745del	NM_000179.2	NP_000170.1:p.(His1248ThrfsTer4)	NC_000002.11:g.48033438_48033441del	(Likely) pathogenic	1 lab	ef4792756c
X:54482662 FGD1 G>T	X	54482662	54482662	G	T	FGD1	c.1833C>A	NM_004463.2	NP_004454.2:p.(Tyr611Ter)	NC_000023.10:g.54482662G>T	(Likely) pathogenic	1 lab	ef4bab4f8f
5:134870905 NEUROG1 C>T	5	134870905	134870905	C	T	NEUROG1	c.476G>A	NM_006161.2	NP_006152.2:p.(Gly159Asp)	NC_000005.9:g.134870905C>T	VUS	1 lab	ef4caee278
2:61272948 PEX13 C>A	2	61272948	61272948	C	A	PEX13	c.875C>A	NM_002618.4	NP_002609.1:p.(Ser292Tyr)	NC_000002.11:g.61272948C>A	(Likely) pathogenic	1 lab	ef4edac68b
8:61654937 CHD7 A>G	8	61654937	61654937	A	G	CHD7	c.946A>G	NM_017780.3	NP_060250.2:p.(Ser316Gly)	NC_000008.10:g.61654937A>G	VUS	1 lab	ef5c584c76
20:30409483 MYLK2 G>A	20	30409483	30409483	G	A	MYLK2	c.715G>A	NM_033118.3	NP_149109.1:p.(Glu239Lys)	NC_000020.10:g.30409483G>A	VUS	1 lab	ef5db4dfd9
1:169489772 F5 C>T	1	169489772	169489772	C	T	F5	c.6179G>A	NM_000130.4	NP_000121.2:p.(Gly2060Asp)	NC_000001.10:g.169489772C>T	(Likely) pathogenic	1 lab	ef6a01559b
1:3334451 PRDM16 C>T	1	3334451	3334451	C	T	PRDM16	c.2751C>T	NM_022114.3	NP_071397.3:p.(Asp917=)	NC_000001.10:g.3334451C>T	(Likely) benign	1 lab	ef6b113a4b
16:81979834 PLCG2 C>G	16	81979834	81979834	C	G	PLCG2	c.3536C>G	NM_002661.3	NP_002652.2:p.(Ser1179Cys)	NC_000016.9:g.81979834C>G	VUS	1 lab	ef6cf01ace
16:9916143 GRIN2A C>T	16	9916143	9916143	C	T	GRIN2A	c.2146G>A	NM_000833.5	NP_000824.1:p.(Ala716Thr)	NC_000016.9:g.9916143C>T	(Likely) pathogenic	1 lab	ef6d0cc2bb
16:3824569 CREBBP C>T	16	3824569	3824569	C	T	CREBBP	c.2283+1G>A	NM_004380.2	NP_004371.2:p.?	NC_000016.9:g.3824569C>T	(Likely) pathogenic	1 lab	ef71d92bf6
12:6085435 VWF A>T	12	6085435	6085435	A	T	VWF	c.7288-9T>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6085435A>T	VUS	1 lab	ef73110f74
1:10397237 KIF1B G>A	1	10397237	10397237	G	A	KIF1B				NC_000001.10:g.10397237G>A	VUS	1 lab	ef75eb07d5
5:254626 SDHA G>A	5	254626	254626	G	A	SDHA	c.1908+5G>A	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.254626G>A	VUS	1 lab	ef799f5102
12:51399148 SLC11A2 C>A	12	51399148	51399148	C	A	SLC11A2	c.255G>T	NM_000617.3	NP_000608.1:p.(Leu85=)	NC_000012.11:g.51399148C>A	(Likely) benign	1 lab	ef7c85df46
12:52139766 SCN8A G>A	12	52139766	52139766	G	A	SCN8A	c.2078G>A	NM_014191.4	NP_055006.1:p.(Arg693Gln)	NC_000012.11:g.52139766G>A	(Likely) benign	1 lab	ef82048292
2:98351939 ZAP70 G>C	2	98351939	98351939	G	C	ZAP70	c.1289+20G>C	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98351939G>C	(Likely) benign	1 lab	17f3cf202c
6:33133743 COL11A2 C>T	6	33133743	33133743	C	T	COL11A2	c.4447G>A	NM_080680.2	NP_542411.2:p.(Gly1483Arg)	NC_000006.11:g.33133743C>T	VUS	1 lab	ef879500b1
X:153297815 MECP2 CAGCCGGGGCGG>C	X	153297815	153297830	CAGCCGGGGCGG	C	MECP2	c.209_219del	NM_004992.3	NP_004983.1:p.(Ser70CysfsTer17)	NC_000023.10:g.153297820_153297830del	(Likely) pathogenic	1 lab	ef89194b63
X:152813424 ATP2B3 C>A	X	152813424	152813424	C	A	ATP2B3	c.1090C>A	NM_001001344.2	NP_001001344.1:p.(Leu364Ile)	NC_000023.10:g.152813424C>A	VUS	1 lab	ef8b43fd55
5:146080718 PPP2R2B A>C	5	146080718	146080718	A	C	PPP2R2B	c.38-13T>G	NM_001271948.1	NP_001258877.1:p.?	NC_000005.9:g.146080718A>C	(Likely) benign	1 lab	17f627039e
17:26694861 VTN G>A	17	26694861	26694861	G	A	VTN	c.1199C>T	NM_000638.3	NP_000629.3:p.(Thr400Met)	NC_000017.10:g.26694861G>A	(Likely) benign	1 lab	ef8e1aa50e
7:21847520 DNAH11 A>G	7	21847520	21847520	A	G	DNAH11	c.10185A>G	NM_001277115.2	NP_001264044.1:p.(Gln3395=)	NC_000007.13:g.21847520A>G	VUS	1 lab	ef8e83dcca
21:38850416 DYRK1A A>G	21	38850416	38850416	A	G	DYRK1A	c.208-67A>G	NM_001396.4	NP_001387.2:p.?	NC_000021.8:g.38850416A>G	(Likely) benign	1 lab	17fcff925d
1:197326056 CRB1 C>T	1	197326056	197326056	C	T	CRB1	c.1084C>T	NM_201253.2	NP_957705.1:p.(Gln362Ter)	NC_000001.10:g.197326056C>T	(Likely) pathogenic	1 lab	ef91d5ab30
2:31751329 SRD5A2 G>C	2	31751329	31751329	G	C	SRD5A2	c.702C>G	NM_000348.4	NP_000339.2:p.(Phe234Leu)	NC_000002.11:g.31751329G>C	VUS	1 lab	ef923e4e33
17:80403747 CYBC1 G>A	17	80403747	80403747	G	A	CYBC1	c.291C>T	NM_001193653.2	NP_001180582.1:p.(His97=)	NC_000017.10:g.80403747G>A	(Likely) benign	1 lab	17feb53bb1
3:130698260 ATP2C1 A>G	3	130698260	130698260	A	G	ATP2C1	c.1738A>G	NM_001199179.3	NP_001186108.1:p.(Ile580Val)	NC_000003.11:g.130698260A>G	(Likely) pathogenic	1 lab	168cfbc2e7
11:67226097 CABP4 C>T	11	67226097	67226097	C	T	CABP4	c.800-5C>T	NM_145200.3	NP_660201.1:p.?	NC_000011.9:g.67226097C>T	(Likely) benign	1 lab	ef993e0843
15:63335146 TPM1 T>G	15	63335146	63335146	T	G	TPM1	c.114+4T>G	NM_001018005.2	NP_001018005.1:p.?	NC_000015.9:g.63335146T>G	(Likely) benign	1 lab	169134aef0
15:56736724 MNS1 T>A	15	56736724	56736724	T	A	MNS1	c.604A>T	NM_018365.4	NP_060835.1:p.(Lys202Ter)	NC_000015.9:g.56736724T>A	(Likely) pathogenic	1 lab	ef9c099314
2:179413763 TTN C>T	2	179413763	179413763	C	T	TTN	c.92590G>A	NM_001267550.2	NP_001254479.2:p.(Asp30864Asn)	NC_000002.11:g.179413763C>T	VUS	1 lab	ef9dd498af
10:73585594 PSAP C>T	10	73585594	73585594	C	T	PSAP	c.777G>A	NM_001042465.2	NP_001035930.1:p.(Met259Ile)	NC_000010.10:g.73585594C>T	VUS	1 lab	ef9e19d58a
13:32937642 BRCA2 T>A	13	32937642	32937642	T	A	BRCA2	c.8303T>A	NM_000059.3	NP_000050.2:p.(Leu2768His)	NC_000013.10:g.32937642T>A	(Likely) benign	1 lab	efa03be143
12:57969883 KIF5A A>C	12	57969883	57969883	A	C	KIF5A	c.2037A>C	NM_004984.4	NP_004975.2:p.(Glu679Asp)	NC_000012.11:g.57969883A>C	VUS	1 lab	17feb9c698
2:47707870 MSH2 G>T	2	47707870	47707870	G	T	MSH2	c.2494G>T	NM_000251.2	NP_000242.1:p.(Glu832Ter)	NC_000002.11:g.47707870G>T	(Likely) pathogenic	1 lab	efa0ba732e
15:89870537 POLG CA>C	15	89870537	89870538	CA	C	POLG	c.1293del	NM_002693.2	NP_002684.1:p.(Val432SerfsTer28)	NC_000015.9:g.89870538del	(Likely) pathogenic	1 lab	efa28b0d36
10:104597152 CYP17A1 A>G	10	104597152	104597152	A	G	CYP17A1	c.-34T>C	NM_000102.3	NP_000093.1:p.?	NC_000010.10:g.104597152A>G	(Likely) benign	1 lab	efa61e25f0
6:129633984 LAMA2 G>A	6	129633984	129633984	G	A	LAMA2	c.3175-22G>A	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129633984G>A	VUS	1 lab	efa7562d9d
3:14219965 XPC CCCT>C	3	14219965	14219981	CCCT	C	XPC	c.101_103del	NM_004628.4	NP_004619.3:p.(Glu34del)	NC_000003.11:g.14219979_14219981del	(Likely) benign	1 lab	efa8618174
7:47882608 PKD1L1 C>T	7	47882608	47882608	C	T	PKD1L1	c.5397G>A	NM_138295.3	NP_612152.1:p.(Ala1799=)	NC_000007.13:g.47882608C>T	VUS	1 lab	efa9497655
3:121980419 CASR A>G	3	121980419	121980419	A	G	CASR	c.537A>G	NM_000388.3	NP_000379.2:p.(Gln179=)	NC_000003.11:g.121980419A>G	(Likely) benign	1 lab	efabc6d28f
6:33153528 COL11A2 C>T	6	33153528	33153528	C	T	COL11A2	c.826G>A	NM_080680.3	NP_542411.2:p.(Glu276Lys)	NC_000006.11:g.33153528C>T	(Likely) benign	1 lab	1693b22595
11:101362567 TRPC6 CT>C	11	101362567	101362589	CT	C	TRPC6	c.946-99del	NM_004621.6	NP_004612.2:p.?	NC_000011.9:g.101362589del	(Likely) benign	1 lab	18012cc281
1:94463542 ABCA4 G>C	1	94463542	94463542	G	C	ABCA4	c.6604C>G	NM_000350.3	NP_000341.2:p.(His2202Asp)	NC_000001.10:g.94463542G>C	VUS	1 lab	efb1614263
17:73953581 ACOX1 T>C	17	73953581	73953581	T	C	ACOX1	c.497A>G	NM_004035.7	NP_004026.2:p.(Asn166Ser)	NC_000017.10:g.73953581T>C	VUS	1 lab	1696032bea
3:121980771 CASR G>C	3	121980771	121980771	G	C	CASR	c.889G>C	NM_000388.3	NP_000379.2:p.(Glu297Gln)	NC_000003.11:g.121980771G>C	VUS	1 lab	efb2d4f284
5:52856572 NDUFS4 T>A	5	52856572	52856572	T	A	NDUFS4				NC_000005.9:g.52856572T>A	(Likely) benign	1 lab	efb4ce7cfe
12:110780118 ATP2A2 CCG>C	12	110780118	110780121	CCG	C	ATP2A2	c.2185_2186del	NM_170665.4	NP_733765.1:p.(Ala729LeufsTer2)	NC_000012.11:g.110780120_110780121del	(Likely) pathogenic	1 lab	efb501111d
9:127265396 NR5A1 C>G	9	127265396	127265396	C	G	NR5A1	c.206G>C	NM_004959.5	NP_004950.2:p.(Arg69Pro)	NC_000009.11:g.127265396C>G	(Likely) pathogenic	1 lab	efb5fb60c3
X:153648479 TAFAZZIN G>C	X	153648479	153648479	G	C	TAFAZZIN	c.646+46G>C	NM_000116.3	NP_000107.1:p.?	NC_000023.10:g.153648479G>C	(Likely) benign	1 lab	efb7fd1403
2:215617335 BARD1 T>C	2	215617335	215617335	T	C	BARD1	c.1569-56A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215617335T>C	(Likely) benign	1 lab	efbd19c385
2:227907883 COL4A4 C>T	2	227907883	227907883	C	T	COL4A4	c.3307G>A	NM_000092.5	NP_000083.3:p.(Gly1103Arg)	NC_000002.11:g.227907883C>T	(Likely) pathogenic	1 lab	efbdfdecbb
2:179479581 TTN G>A	2	179479581	179479581	G	A	TTN	c.48753C>T	NM_001267550.1	NP_001254479.1:p.(Asp16251=)	NC_000002.11:g.179479581G>A	(Likely) benign	1 lab	efbfc120a4
6:7581429 DSP T>C	6	7581429	7581429	T	C	DSP	c.5006T>C	NM_004415.3	NP_004406.2:p.(Leu1669Pro)	NC_000006.11:g.7581429T>C	VUS	1 lab	efc1e7428f
16:67662297 CTCF C>T	16	67662297	67662297	C	T	CTCF	c.1543C>T	NM_006565.3	NP_006556.1:p.(Arg515Cys)	NC_000016.9:g.67662297C>T	VUS	1 lab	efc3dfb3e3
5:112164663 APC T>TA	5	112164663	112164668	T	TA	APC	c.1742dup	NM_000038.6	NP_000029.2:p.(Glu582GlyfsTer20)	NC_000005.9:g.112164668dup	(Likely) pathogenic	1 lab	efc4b6d035
X:73963437 NEXMIF C>T	X	73963437	73963437	C	T	NEXMIF	c.955G>A	NM_001008537.3	NP_001008537.1:p.(Asp319Asn)	NC_000023.10:g.73963437C>T	VUS	1 lab	efc5bf3a06
2:179547956 TTN C>A	2	179547956	179547956	C	A	TTN	c.29137G>T	NM_133378.4	NP_596869.4:p.(Glu9713Ter)	NC_000002.11:g.179547956C>A	(Likely) pathogenic	1 lab	efc603dd5b
2:179413597 TTN C>T	2	179413597	179413597	C	T	TTN	c.92756G>A	NM_001267550.1	NP_001254479.1:p.(Arg30919Gln)	NC_000002.11:g.179413597C>T	VUS	1 lab	efc84c3cd9
4:15587793 CC2D2A G>A	4	15587793	15587793	G	A	CC2D2A	c.3989G>A	NM_001378615.1	NP_001365544.1:p.(Arg1330Gln)	NC_000004.11:g.15587793G>A	(Likely) pathogenic	1 lab	efc8aa6e30
11:533874 HRAS T>C	11	533874	533874	T	C	HRAS	c.182A>G	NM_005343.2	NP_005334.1:p.(Gln61Arg)	NC_000011.9:g.533874T>C	(Likely) pathogenic	1 lab	efc9f912c0
3:37089155 MLH1 T>C	3	37089155	37089155	T	C	MLH1	c.1877T>C	NM_000249.3	NP_000240.1:p.(Phe626Ser)	NC_000003.11:g.37089155T>C	VUS	1 lab	efca2f289a
18:29175154 TTR T>C	18	29175154	29175154	T	C	TTR	c.272T>C	NM_000371.3	NP_000362.1:p.(Val91Ala)	NC_000018.9:g.29175154T>C	(Likely) pathogenic	1 lab	efca57643b
X:71788693 HDAC8 G>T	X	71788693	71788693	G	T	HDAC8	c.206C>A	NM_018486.3	NP_060956.1:p.(Thr69Asn)	NC_000023.10:g.71788693G>T	(Likely) benign	1 lab	1696688d7b
8:143996622 CYP11B2 G>A	8	143996622	143996622	G	A	CYP11B2	c.435C>T	NM_000498.3	NP_000489.3:p.(Asn145=)	NC_000008.10:g.143996622G>A	(Likely) benign	1 lab	efcf91e8e9
11:679763 DEAF1 G>A	11	679763	679763	G	A	DEAF1	c.1051C>T	NM_021008.4	NP_066288.2:p.(Arg351Ter)	NC_000011.9:g.679763G>A	VUS	1 lab	efd210278d
5:149440308 CSF1R CCT>C	5	149440308	149440310	CCT	C	CSF1R	c.1969+115_1969+116del	NM_001349736.1	NP_001336665.1:p.?	NC_000005.9:g.149440309_149440310del	(Likely) pathogenic	1 lab	efd9dc317f
5:36984957 NIPBL C>T	5	36984957	36984957	C	T	NIPBL	c.1675C>T	NM_133433.3	NP_597677.2:p.(Gln559Ter)	NC_000005.9:g.36984957C>T	(Likely) pathogenic	1 lab	efdae51bf5
2:228142266 COL4A3 A>G	2	228142266	228142266	A	G	COL4A3	c.2122A>G	NM_000091.4	NP_000082.2:p.(Lys708Glu)	NC_000002.11:g.228142266A>G	VUS	1 lab	efdc046731
5:149515318 PDGFRB G>A	5	149515318	149515318	G	A	PDGFRB	c.164C>T	NM_002609.4	NP_002600.1:p.(Ser55Leu)	NC_000005.9:g.149515318G>A	(Likely) benign	1 lab	169f41fc44
X:153760953 G6PD C>T	X	153760953	153760953	C	T	G6PD	c.1116G>A	NM_001042351.2	NP_001035810.1:p.(Gln372=)	NC_000023.10:g.153760953C>T	(Likely) benign	1 lab	1802108e34
2:241662960 KIF1A C>T	2	241662960	241662960	C	T	KIF1A	c.4334G>A	NM_001244008.1	NP_001230937.1:p.(Arg1445His)	NC_000002.11:g.241662960C>T	VUS	1 lab	efe57e5da4
X:77300999 ATP7A C>T	X	77300999	77300999	C	T	ATP7A	c.4156C>T	NM_000052.6	NP_000043.4:p.(Pro1386Ser)	NC_000023.10:g.77300999C>T	(Likely) pathogenic	1 lab	efe6157ef3
10:43615620 RET A>C	10	43615620	43615620	A	C	RET	c.2699A>C	NM_020975.6	NP_066124.1:p.(Tyr900Ser)	NC_000010.10:g.43615620A>C	VUS	1 lab	16a073f5d9
12:6121147 VWF A>G	12	6121147	6121147	A	G	VWF	c.5664+106T>C	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121147A>G	(Likely) benign	1 lab	efeb2fac07
2:220354612 SPEG C>T	2	220354612	220354612	C	T	SPEG	c.8872C>T	NM_005876.4	NP_005867.3:p.(Arg2958Ter)	NC_000002.11:g.220354612C>T	(Likely) pathogenic	1 lab	efeb4fbde2
20:61981854 CHRNA4 G>C	20	61981854	61981854	G	C	CHRNA4	c.909C>G	NM_000744.7	NP_000735.1:p.(Ile303Met)	NC_000020.10:g.61981854G>C	VUS	1 lab	16a1939ec1
6:7579879 DSP C>A	6	7579879	7579879	C	A	DSP	c.3456C>A	NM_004415.3	NP_004406.2:p.(Asn1152Lys)	NC_000006.11:g.7579879C>A	(Likely) benign	1 lab	efece1fcd6
4:6304110 WFS1 T>C	4	6304110	6304110	T	C	WFS1	c.2588T>C	NM_006005.3	NP_005996.2:p.(Ile863Thr)	NC_000004.11:g.6304110T>C	VUS	1 lab	046c41787c
1:19407871 UBR4 G>A	1	19407871	19407871	G	A	UBR4	c.15205C>T	NM_020765.2	NP_065816.2:p.(Arg5069Trp)	NC_000001.10:g.19407871G>A	VUS	1 lab	efee2d3def
12:2788670 CACNA1C T>C	12	2788670	2788670	T	C	CACNA1C	c.5152T>C	NM_000719.6	NP_000710.5:p.(Phe1718Leu)	NC_000012.11:g.2788670T>C	VUS	1 lab	efeea8317b
17:58734152 PPM1D C>T	17	58734152	58734152	C	T	PPM1D	c.1210C>T	NM_003620.3	NP_003611.1:p.(Gln404Ter)	NC_000017.10:g.58734152C>T	(Likely) pathogenic	1 lab	efef1a4cf3
1:216424389 USH2A G>A	1	216424389	216424389	G	A	USH2A	c.2023C>T	NM_206933.2	NP_996816.2:p.(Gln675Ter)	NC_000001.10:g.216424389G>A	(Likely) pathogenic	1 lab	efeffa08e9
11:108128264 ATM G>A	11	108128264	108128264	G	A	ATM	c.2307G>A	NM_000051.3	NP_000042.3:p.(Glu769=)	NC_000011.9:g.108128264G>A	(Likely) benign	1 lab	eff04524e5
20:61833872 MISSING A>G	20	61833872	61833872	A	G	MISSING				NC_000020.10:g.61833872A>G	VUS	1 lab	eff1f668e3
16:21690235 OTOA G>T	16	21690235	21690235	G	T	OTOA				NC_000016.9:g.21690235G>T	(Likely) pathogenic	1 lab	eff2a17ee1
X:153580327 FLNA G>C	X	153580327	153580327	G	C	FLNA	c.6832C>G	NM_001110556.1	NP_001104026.1:p.(Pro2278Ala)	NC_000023.10:g.153580327G>C	VUS	1 lab	eff72b1cc3
7:151932908 KMT2C T>C	7	151932908	151932908	T	C	KMT2C	c.2763A>G	NM_170606.2	NP_733751.2:p.(Leu921=)	NC_000007.13:g.151932908T>C	(Likely) benign	1 lab	f000c9ef44
16:19539346 CCP110 T>C	16	19539346	19539346	T	C	CCP110	c.141+2T>C	NM_001323572.2	NP_001310501.1:p.?	NC_000016.9:g.19539346T>C	(Likely) benign	1 lab	f003944d91
10:71968967 PPA1 A>G	10	71968967	71968967	A	G	PPA1	c.719T>C	NM_021129.4	NP_066952.1:p.(Ile240Thr)	NC_000010.10:g.71968967A>G	VUS	1 lab	f0090d0b1e
17:54671933 NOG C>T	17	54671933	54671933	C	T	NOG	c.349C>T	NM_005450.6	NP_005441.1:p.(Pro117Ser)	NC_000017.10:g.54671933C>T	VUS	1 lab	0322f20518
3:38888546 SCN11A A>G	3	38888546	38888546	A	G	SCN11A	c.5015T>C	NM_014139.2	NP_054858.2:p.(Leu1672Ser)	NC_000003.11:g.38888546A>G	VUS	1 lab	f009ca9051
X:108911414 ACSL4 G>A	X	108911414	108911414	G	A	ACSL4	c.1231C>T	NM_001318510.2	NP_001305439.1:p.(Arg411Ter)	NC_000023.10:g.108911414G>A	(Likely) pathogenic	1 lab	f00b28b728
11:47354129 MYBPC3 C>G	11	47354129	47354129	C	G	MYBPC3	c.3615G>C	NM_000256.3	NP_000247.2:p.(Arg1205=)	NC_000011.9:g.47354129C>G	(Likely) benign	1 lab	f00b97008c
3:4829682 ITPR1 A>G	3	4829682	4829682	A	G	ITPR1	c.6667A>G	NM_001378452.1	NP_001365381.1:p.(Ile2223Val)	NC_000003.11:g.4829682A>G	(Likely) benign	1 lab	f00e518ecb
8:145641328 SLC39A4 C>T	8	145641328	145641328	C	T	SLC39A4	c.340G>A	NM_130849.3	NP_570901.2:p.(Ala114Thr)	NC_000008.10:g.145641328C>T	(Likely) benign	1 lab	f010463355
17:37820981 PNMT A>G	17	37820981	37820981	A	G	PNMT				NC_000017.10:g.37820981A>G	(Likely) benign	1 lab	f013777cc6
12:80814517 MISSING T>C	12	80814517	80814517	T	C	MISSING				NC_000012.11:g.80814517T>C	(Likely) benign	1 lab	f018ce37ee
2:216298084 FN1 G>A	2	216298084	216298084	G	A	FN1	c.378C>T	NM_212482.2	NP_997647.1:p.(Ile126=)	NC_000002.11:g.216298084G>A	(Likely) benign	1 lab	f01a09c588
4:120446868 PDE5A GA>G	4	120446868	120446879	GA	G	PDE5A	c.1633-19del	NM_001083.4	NP_001074.2:p.?	NC_000004.11:g.120446879del	(Likely) benign	1 lab	180252c0fe
5:127614492 FBN2 T>C	5	127614492	127614492	T	C	FBN2	c.7180A>G	NM_001999.4	NP_001990.2:p.(Ile2394Val)	NC_000005.9:g.127614492T>C	(Likely) benign	1 lab	16a67f143a
22:36684979 MYH9 C>T	22	36684979	36684979	C	T	MYH9	c.4564G>A	NM_002473.4	NP_002464.1:p.(Glu1522Lys)	NC_000022.10:g.36684979C>T	VUS	1 lab	f020b520d8
20:61448944 COL9A3 G>A	20	61448944	61448944	G	A	COL9A3	c.104G>A	NM_001853.4	NP_001844.3:p.(Gly35Asp)	NC_000020.10:g.61448944G>A	(Likely) pathogenic	1 lab	f0221d5d49
2:166032734 SCN3A A>G	2	166032734	166032734	A	G	SCN3A	c.171T>C	NM_006922.3	NP_008853.3:p.(Ala57=)	NC_000002.11:g.166032734A>G	(Likely) benign	1 lab	f0276391be
16:2138295 TSC2 G>C	16	2138295	2138295	G	C	TSC2				NC_000016.9:g.2138295G>C	(Likely) pathogenic	1 lab	f027e986da
8:38272344 FGFR1 G>C	8	38272344	38272344	G	C	FGFR1	c.1930C>G	NM_023110.3	NP_075598.2:p.(Leu644Val)	NC_000008.10:g.38272344G>C	(Likely) pathogenic	1 lab	f02d043798
9:116048540 PRPF4 C>G	9	116048540	116048540	C	G	PRPF4	c.781C>G	NM_004697.4	NP_004688.2:p.(Pro261Ala)	NC_000009.11:g.116048540C>G	VUS	1 lab	f02f992ef4
2:227886795 COL4A4 C>T	2	227886795	227886795	C	T	COL4A4	c.4185G>A	NM_000092.4	NP_000083.3:p.(Gly1395=)	NC_000002.11:g.227886795C>T	(Likely) benign	1 lab	1803ff39c3
3:52488166 NISCH C>T	3	52488166	52488166	C	T	NISCH				NC_000003.11:g.52488166C>T	(Likely) benign	1 lab	f032793919
12:6121238 VWF C>T	12	6121238	6121238	C	T	VWF	c.5664+15G>A	NM_000552.3	NP_000543.2:p.?	NC_000012.11:g.6121238C>T	(Likely) benign	1 lab	f036d86c22
22:21349317 LZTR1 T>G	22	21349317	21349317	T	G	LZTR1	c.1942+2T>G	NM_006767.3	NP_006758.2:p.?	NC_000022.10:g.21349317T>G	(Likely) pathogenic	1 lab	f038c7c8be
16:56914455 SLC12A3 G>A	16	56914455	56914455	G	A	SLC12A3	c.1567+290G>A	NM_000339.2	NP_000330.2:p.?	NC_000016.9:g.56914455G>A	(Likely) benign	1 lab	f039fb07c8
Y:6736521 AMELY T>G	Y	6736521	6736521	T	G	AMELY	c.148-18A>C	NM_001143.1	NP_001134.1:p.?	NC_000024.9:g.6736521T>G	(Likely) benign	1 lab	f045eed3ba
2:32341249 SPAST G>A	2	32341249	32341249	G	A	SPAST	c.1066G>A	NM_014946.3	NP_055761.2:p.(Glu356Lys)	NC_000002.11:g.32341249G>A	VUS	1 lab	f045fbe14c
2:179459296 TTN TA>T	2	179459296	179459297	TA	T	TTN	c.57924del	NM_001267550.2	NP_001254479.2:p.(Lys19309SerfsTer13)	NC_000002.11:g.179459297del	(Likely) pathogenic	1 lab	f04cb9c4b8
17:47484182 PHB G>A	17	47484182	47484182	G	A	PHB				NC_000017.10:g.47484182G>A	VUS	1 lab	f04d8c74e1
16:75512867 CHST6 A>G	16	75512867	75512867	A	G	CHST6	c.860T>C	NM_021615.5	NP_067628.1:p.(Leu287Pro)	NC_000016.9:g.75512867A>G	VUS	1 lab	f04e7c6ea3
3:9979763 CRELD1 G>A	3	9979763	9979763	G	A	CRELD1	c.433G>A	NM_001031717.3	NP_001026887.1:p.(Ala145Thr)	NC_000003.11:g.9979763G>A	(Likely) benign	1 lab	f04f97e121
3:33058235 GLB1 C>T	3	33058235	33058235	C	T	GLB1	c.1445G>A	NM_000404.4	NP_000395.3:p.(Arg482His)	NC_000003.11:g.33058235C>T	VUS	1 lab	f04fcc9dc8
1:94502338 ABCA4 G>GA	1	94502338	94502343	G	GA	ABCA4	c.3819dup	NM_000350.2	NP_000341.2:p.(Leu1274SerfsTer8)	NC_000001.10:g.94502343dup	(Likely) pathogenic	1 lab	f0501c682a
5:67586631 PIK3R1 C>G	5	67586631	67586631	C	G	PIK3R1	c.75C>G	NM_181504.3	NP_852556.2:p.(Asp25Glu)	NC_000005.9:g.67586631C>G	VUS	1 lab	f0518d7b8b
17:41245647 BRCA1 G>A	17	41245647	41245647	G	A	BRCA1	c.1901C>T	NM_007294.4	NP_009225.1:p.(Pro634Leu)	NC_000017.10:g.41245647G>A	(Likely) benign	1 lab	f0530c5347
18:44140045 LOXHD1 C>T	18	44140045	44140045	C	T	LOXHD1	c.3061+1G>A	NM_144612.6	NP_653213.6:p.?	NC_000018.9:g.44140045C>T	(Likely) pathogenic	1 lab	f054d79574
17:62026022 SCN4A G>C	17	62026022	62026022	G	C	SCN4A	c.3093C>G	NM_000334.4	NP_000325.4:p.(Asn1031Lys)	NC_000017.10:g.62026022G>C	VUS	1 lab	f0567dcdb1
22:38122363 TRIOBP GGGA>G	22	38122363	38122370	GGGA	G	TRIOBP	c.3805_3807del	NM_001039141.2	NP_001034230.1:p.(Glu1269del)	NC_000022.10:g.38122368_38122370del	VUS	1 lab	f05681c4f2
3:120363375 HGD T>C	3	120363375	120363375	T	C	HGD	c.650-85A>G	NM_000187.3	NP_000178.2:p.?	NC_000003.11:g.120363375T>C	(Likely) benign	1 lab	f058d264f7
8:144992567 PLEC C>T	8	144992567	144992567	C	T	PLEC	c.11833G>A	NM_201380.3	NP_958782.1:p.(Gly3945Ser)	NC_000008.10:g.144992567C>T	VUS	1 lab	f05925762e
15:35086944 ACTC1 G>A	15	35086944	35086944	G	A	ACTC1	c.66C>T	NM_005159.4	NP_005150.1:p.(Gly22=)	NC_000015.9:g.35086944G>A	(Likely) benign	1 lab	f059a27b5d
11:64785926 ARL2 C>G	11	64785926	64785926	C	G	ARL2	c.156C>G	NM_001667.4	NP_001658.2:p.(Ile52Met)	NC_000011.9:g.64785926C>G	VUS	1 lab	f05a8574d2
7:158707031 DYNC2I1 T>C	7	158707031	158707031	T	C	DYNC2I1	c.1791+19T>C	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158707031T>C	(Likely) benign	1 lab	180ccaef4a
17:3559781 CTNS T>C	17	3559781	3559781	T	C	CTNS	c.462T>C	NM_001031681.2	NP_001026851.2:p.(Ser154=)	NC_000017.10:g.3559781T>C	(Likely) benign	1 lab	f05e50dbef
1:94476823 ABCA4 C>T	1	94476823	94476823	C	T	ABCA4	c.5579G>A	NM_000350.2	NP_000341.2:p.(Arg1860Gln)	NC_000001.10:g.94476823C>T	VUS	1 lab	f061d833dc
2:209113112 IDH1 C>T	2	209113112	209113112	C	T	IDH1	c.395G>A	NM_005896.2	NP_005887.2:p.(Arg132His)	NC_000002.11:g.209113112C>T	(Likely) pathogenic	1 lab	f065587cfb
14:23885049 MYH7 TC>T	14	23885049	23885050	TC	T	MYH7	c.4954-9del	NM_000257.4	NP_000248.2:p.?	NC_000014.8:g.23885050del	(Likely) benign	1 lab	f06698b19e
16:86601380 FOXC2 A>AC	16	86601380	86601383	A	AC	FOXC2	c.442dup	NM_005251.3	NP_005242.1:p.(Leu148ProfsTer315)	NC_000016.9:g.86601383dup	(Likely) pathogenic	1 lab	f0678c208d
8:124518707 FBXO32 G>T	8	124518707	124518707	G	T	FBXO32	c.759C>A	NM_058229.3	NP_478136.1:p.(Ala253=)	NC_000008.10:g.124518707G>T	(Likely) benign	1 lab	f06ad6a032
2:168107353 XIRP2 G>C	2	168107353	168107353	G	C	XIRP2	c.9451G>C	NM_152381.5	NP_689594.4:p.(Val3151Leu)	NC_000002.11:g.168107353G>C	(Likely) benign	1 lab	f06d65cb34
2:165947025 SCN3A C>T	2	165947025	165947025	C	T	SCN3A	c.5638G>A	NM_006922.4	NP_008853.3:p.(Ala1880Thr)	NC_000002.11:g.165947025C>T	VUS	1 lab	f06e97694a
15:48713790 FBN1 C>A	15	48713790	48713790	C	A	FBN1	c.7664G>T	NM_000138.5	NP_000129.3:p.(Gly2555Val)	NC_000015.9:g.48713790C>A	(Likely) pathogenic	1 lab	f06ebcf05a
1:53676578 CPT2 C>T	1	53676578	53676578	C	T	CPT2	c.1232C>T	NM_000098.2	NP_000089.1:p.(Thr411Met)	NC_000001.10:g.53676578C>T	VUS	1 lab	f070b0c415
4:148827860 MISSING G>C	4	148827860	148827860	G	C	MISSING				NC_000004.11:g.148827860G>C	VUS	1 lab	f0732d9898
18:19761478 GATA6 G>A	18	19761478	19761478	G	A	GATA6	c.1367G>A	NM_005257.4	NP_005248.2:p.(Arg456His)	NC_000018.9:g.19761478G>A	(Likely) pathogenic	1 lab	f07739d216
12:112884184 PTPN11 A>G	12	112884184	112884184	A	G	PTPN11	c.119A>G	NM_002834.5	NP_002825.3:p.(Asp40Gly)	NC_000012.11:g.112884184A>G	VUS	1 lab	f077ae9fef
13:39358843 FREM2 G>T	13	39358843	39358843	G	T	FREM2	c.5917G>T	NM_207361.6	NP_997244.4:p.(Glu1973Ter)	NC_000013.10:g.39358843G>T	(Likely) pathogenic	1 lab	180d819863
16:89351052 ANKRD11 TTA>T	16	89351052	89351055	TTA	T	ANKRD11				NC_000016.9:g.89351054_89351055del	(Likely) pathogenic	1 lab	f07ad98ad4
12:98927913 TMPO A>T	12	98927913	98927913	A	T	TMPO	c.1878A>T	NM_003276.2	NP_003267.1:p.(Ser626=)	NC_000012.11:g.98927913A>T	(Likely) benign	1 lab	181075b0a8
13:32911387 BRCA2 G>A	13	32911387	32911387	G	A	BRCA2	c.2895G>A	NM_000059.3	NP_000050.2:p.(Met965Ile)	NC_000013.10:g.32911387G>A	(Likely) benign	1 lab	f08183a0cc
13:32930645 BRCA2 C>T	13	32930645	32930645	C	T	BRCA2	c.7516C>T	NM_000059.3	NP_000050.2:p.(Gln2506Ter)	NC_000013.10:g.32930645C>T	(Likely) pathogenic	1 lab	f0857caad6
2:47657045 MSH2 T>C	2	47657045	47657045	T	C	MSH2	c.1241T>C	NM_000251.3	NP_000242.1:p.(Leu414Pro)	NC_000002.11:g.47657045T>C	VUS	1 lab	f085e0154c
1:241667539 FH G>C	1	241667539	241667539	G	C	FH	c.911C>G	NM_000143.4	NP_000134.2:p.(Pro304Arg)	NC_000001.10:g.241667539G>C	(Likely) benign	1 lab	f08ab11cff
1:228495226 OBSCN G>T	1	228495226	228495226	G	T	OBSCN	c.15331G>T	NM_001271223.2	NP_001258152.2:p.(Val5111Phe)	NC_000001.10:g.228495226G>T	(Likely) benign	1 lab	f08c1389d9
2:48018314 MSH6 T>TGTGA	2	48018314	48018316	T	TGTGA	MSH6	c.457+53_457+54insTGAG	NM_000179.2	NP_000170.1:p.?	NC_000002.11:g.48018315_48018316insTGAG	(Likely) benign	1 lab	f08c3b1a33
1:35250397 GJB3 G>A	1	35250397	35250397	G	A	GJB3	c.34G>A	NM_024009.3	NP_076872.1:p.(Gly12Ser)	NC_000001.10:g.35250397G>A	(Likely) pathogenic	1 lab	f08c465cbe
15:40502334 BUB1B C>T	15	40502334	40502334	C	T	BUB1B	c.2308C>T	NM_001211.6	NP_001202.5:p.(Arg770Ter)	NC_000015.9:g.40502334C>T	(Likely) pathogenic	1 lab	16ada7fffa
3:33055549 GLB1 T>C	3	33055549	33055549	T	C	GLB1	c.1733A>G	NM_000404.3	NP_000395.2:p.(Lys578Arg)	NC_000003.11:g.33055549T>C	(Likely) pathogenic	1 lab	f092c23e95
4:183696256 TENM3 C>T	4	183696256	183696256	C	T	TENM3				NC_000004.11:g.183696256C>T	(Likely) pathogenic	1 lab	f095876176
7:155604740 SHH G>A	7	155604740	155604740	G	A	SHH	c.77C>T	NM_000193.4	NP_000184.1:p.(Pro26Leu)	NC_000007.13:g.155604740G>A	(Likely) pathogenic	1 lab	f0970e9881
6:7578066 DSP A>G	6	7578066	7578066	A	G	DSP	c.2932A>G	NM_004415.3	NP_004406.2:p.(Ile978Val)	NC_000006.11:g.7578066A>G	(Likely) benign	1 lab	f0984bd5ed
3:38743424 SCN10A G>A	3	38743424	38743424	G	A	SCN10A	c.4563C>T	NM_006514.3	NP_006505.3:p.(Gly1521=)	NC_000003.11:g.38743424G>A	(Likely) benign	1 lab	f09a682e65
1:2234502 SKI C>T	1	2234502	2234502	C	T	SKI	c.1055C>T	NM_003036.4	NP_003027.1:p.(Pro352Leu)	NC_000001.10:g.2234502C>T	VUS	1 lab	16aeb2d0f5
4:187195288 F11 A>G	4	187195288	187195288	A	G	F11	c.344A>G	NM_000128.3	NP_000119.1:p.(Tyr115Cys)	NC_000004.11:g.187195288A>G	VUS	1 lab	f0a1009637
5:145719503 POU4F3 C>A	5	145719503	145719503	C	A	POU4F3				NC_000005.9:g.145719503C>A	(Likely) benign	1 lab	f0a1bdbd5a
19:33355049 SLC7A9 C>A	19	33355049	33355049	C	A	SLC7A9	c.431G>T	NM_014270.4	NP_055085.1:p.(Cys144Phe)	NC_000019.9:g.33355049C>A	VUS	1 lab	f0a50eaf1e
6:3225601 TUBB2B C>T	6	3225601	3225601	C	T	TUBB2B	c.722G>A	NM_178012.5	NP_821080.1:p.(Arg241His)	NC_000006.11:g.3225601C>T	(Likely) pathogenic	1 lab	f0a8840835
20:42744548 JPH2 G>A	20	42744548	42744548	G	A	JPH2	c.1767C>T	NM_020433.4	NP_065166.2:p.(Val589=)	NC_000020.10:g.42744548G>A	(Likely) benign	1 lab	f0aa33a4bf
1:153792081 GATAD2B C>G	1	153792081	153792081	C	G	GATAD2B	c.465+1G>C	NM_020699.2	NP_065750.1:p.?	NC_000001.10:g.153792081C>G	(Likely) pathogenic	1 lab	f0aa63856a
X:53253977 KDM5C G>GC	X	53253977	53253978	G	GC	KDM5C	c.94dup	NM_004187.3	NP_004178.2:p.(Ala32GlyfsTer43)	NC_000023.10:g.53253978dup	(Likely) pathogenic	1 lab	f0b226e891
11:108236282 ATM T>G	11	108236282	108236282	T	G	ATM	c.*47T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236282T>G	(Likely) benign	1 lab	f0b8f755ad
2:24498674 ITSN2 C>T	2	24498674	24498674	C	T	ITSN2	c.1989G>A	NM_147152.3	NP_671494.2:p.(Gln663=)	NC_000002.11:g.24498674C>T	(Likely) benign	1 lab	1816d25cb4
X:84526694 ZNF711 G>A	X	84526694	84526694	G	A	ZNF711	c.2284G>A	NM_001330574.2	NP_001317503.1:p.(Ala762Thr)	NC_000023.10:g.84526694G>A	VUS	1 lab	f0c184402d
1:43396797 SLC2A1 C>G	1	43396797	43396797	C	G	SLC2A1	c.195G>C	NM_006516.2	NP_006507.2:p.(Trp65Cys)	NC_000001.10:g.43396797C>G	(Likely) pathogenic	1 lab	f0c3a40b1a
17:59937163 BRIP1 G>A	17	59937163	59937163	G	A	BRIP1	c.199C>T	NM_032043.3	NP_114432.2:p.(Leu67Phe)	NC_000017.10:g.59937163G>A	VUS	1 lab	f0c51f9b9b
2:47702212 MSH2 A>T	2	47702212	47702212	A	T	MSH2	c.1808A>T	NM_000251.3	NP_000242.1:p.(Asp603Val)	NC_000002.11:g.47702212A>T	(Likely) pathogenic	1 lab	f0c520adbc
3:57817106 SLMAP G>T	3	57817106	57817106	G	T	SLMAP	c.199-4G>T	NM_001304420.2	NP_001291349.1:p.?	NC_000003.11:g.57817106G>T	(Likely) benign	1 lab	f0c5f995fa
X:49084876 CACNA1F G>A	X	49084876	49084876	G	A	CACNA1F	c.851C>T	NM_005183.4	NP_005174.2:p.(Ala284Val)	NC_000023.10:g.49084876G>A	VUS	1 lab	f0c717b097
4:39522978 UGDH A>G	4	39522978	39522978	A	G	UGDH	c.155T>C	NM_003359.4	NP_003350.1:p.(Ile52Thr)	NC_000004.11:g.39522978A>G	VUS	1 lab	f0c9101b1d
2:238322885 COL6A3 G>C	2	238322885	238322885	G	C	COL6A3				NC_000002.11:g.238322885G>C	(Likely) benign	1 lab	f0cb3429cd
4:100532610 MTTP G>A	4	100532610	100532610	G	A	MTTP	c.1989G>A	NM_000253.3	NP_000244.2:p.(Gln663=)	NC_000004.11:g.100532610G>A	(Likely) pathogenic	1 lab	f0d1642beb
2:131356230 CFC1 G>A	2	131356230	131356230	G	A	CFC1	c.232C>T	NM_032545.3	NP_115934.1:p.(Arg78Trp)	NC_000002.11:g.131356230G>A	VUS	1 lab	f0d1b3ecf9
12:32994098 PKP2 G>T	12	32994098	32994098	G	T	PKP2	c.1552C>A	NM_004572.3	NP_004563.2:p.(Leu518Ile)	NC_000012.11:g.32994098G>T	VUS	1 lab	1817a017b5
X:107840622 COL4A5 C>T	X	107840622	107840622	C	T	COL4A5	c.1603C>T	NM_033380.2	NP_203699.1:p.(Pro535Ser)	NC_000023.10:g.107840622C>T	VUS	1 lab	f0d6965eb4
3:37081714 MLH1 CTG>C	3	37081714	37081720	CTG	C	MLH1	c.1601_1602del	NM_000249.4	NP_000240.1:p.(Val534GlufsTer22)	NC_000003.11:g.37081719_37081720del	(Likely) pathogenic	1 lab	f0d7218152
7:117359555 CTTNBP2 C>T	7	117359555	117359555	C	T	CTTNBP2	c.4644+3G>A	NM_033427.3	NP_219499.1:p.?	NC_000007.13:g.117359555C>T	(Likely) benign	1 lab	16af84b34d
17:45369924 ITGB3 G>A	17	45369924	45369924	G	A	ITGB3	c.1680G>A	NM_000212.2	NP_000203.2:p.(Glu560=)	NC_000017.10:g.45369924G>A	(Likely) benign	1 lab	f0d91f5540
9:35665029 ARHGEF39 C>T	9	35665029	35665029	C	T	ARHGEF39	c.138G>A	NM_032818.3	NP_116207.2:p.(Thr46=)	NC_000009.11:g.35665029C>T	VUS	1 lab	03825d1ed0
5:176722410 NSD1 C>T	5	176722410	176722410	C	T	NSD1	c.8041C>T	NM_022455.4	NP_071900.2:p.(Leu2681Phe)	NC_000005.9:g.176722410C>T	VUS	1 lab	f0da56704d
1:154164487 TPM3 T>C	1	154164487	154164487	T	C	TPM3				NC_000001.10:g.154164487T>C	(Likely) pathogenic	1 lab	f0df48d4c3
18:50976908 DCC G>A	18	50976908	50976908	G	A	DCC	c.3268G>A	NM_005215.4	NP_005206.2:p.(Val1090Ile)	NC_000018.9:g.50976908G>A	VUS	1 lab	16b209440b
11:32417690 WT1 A>C	11	32417690	32417690	A	C	WT1				NC_000011.9:g.32417690A>C	(Likely) benign	1 lab	1817fa6c4b
12:121416587 HNF1A A>C	12	121416587	121416587	A	C	HNF1A	c.16A>C	NM_000545.8	NP_000536.6:p.(Ser6Arg)	NC_000012.11:g.121416587A>C	(Likely) pathogenic	1 lab	f0e4576325
10:89720737 PTEN T>A	10	89720737	89720737	T	A	PTEN	c.888T>A	NM_000314.4	NP_000305.3:p.(Cys296Ter)	NC_000010.10:g.89720737T>A	(Likely) pathogenic	1 lab	181dac18ba
X:84525747 ZNF711 G>A	X	84525747	84525747	G	A	ZNF711	c.1199G>A	NM_021998.4	NP_068838.3:p.(Arg400Lys)	NC_000023.10:g.84525747G>A	VUS	1 lab	f0e76956fd
17:79479095 ACTG1 G>A	17	79479095	79479095	G	A	ACTG1				NC_000017.10:g.79479095G>A	(Likely) pathogenic	1 lab	f0e77f59ea
X:49084852 CACNA1F CACGCACGCCCTGATCCCGAAG>C	X	49084852	49084879	CACGCACGCCCTGATCCCGAAG	C	CACNA1F	c.854_874del	NM_005183.3	NP_005174.2:p.(Ser285_Ala291del)	NC_000023.10:g.49084859_49084879del	VUS	1 lab	f0e802c942
17:40469231 STAT3 A>T	17	40469231	40469231	A	T	STAT3	c.2113T>A	NM_139276.2	NP_644805.1:p.(Tyr705Asn)	NC_000017.10:g.40469231A>T	(Likely) pathogenic	1 lab	f0ebb166fb
19:55667806 TNNI3 T>C	19	55667806	55667806	T	C	TNNI3	c.151-106A>G	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55667806T>C	(Likely) benign	1 lab	f0ec684696
14:50769717 L2HGDH G>A	14	50769717	50769717	G	A	L2HGDH	c.159C>T	NM_024884.3	NP_079160.1:p.(Ile53=)	NC_000014.8:g.50769717G>A	(Likely) benign	1 lab	16b3e431d7
2:110922814 NPHP1 C>A	2	110922814	110922814	C	A	NPHP1	c.625-82G>T	NM_000272.4	NP_000263.2:p.?	NC_000002.11:g.110922814C>A	(Likely) benign	1 lab	181ea7e181
3:184075148 CLCN2 A>C	3	184075148	184075148	A	C	CLCN2	c.898+2T>G	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184075148A>C	VUS	1 lab	18210722c5
16:30718459 SRCAP AGT>A	16	30718459	30718467	AGT	A	SRCAP	c.307-38_307-37del	NM_006662.2	NP_006653.2:p.?	NC_000016.9:g.30718466_30718467del	(Likely) benign	1 lab	f0f046f458
2:166020150 SCN3A C>T	2	166020150	166020150	C	T	SCN3A	c.672G>A	NM_006922.4	NP_008853.3:p.(Leu224=)	NC_000002.11:g.166020150C>T	(Likely) benign	1 lab	f0f1b900fc
2:238269775 COL6A3 C>T	2	238269775	238269775	C	T	COL6A3	c.6199G>A	NM_004369.3	NP_004360.2:p.(Glu2067Lys)	NC_000002.11:g.238269775C>T	VUS	1 lab	f0f4d4c8cf
17:63189680 RGS9 C>T	17	63189680	63189680	C	T	RGS9	c.766C>T	NM_003835.3	NP_003826.2:p.(Gln256Ter)	NC_000017.10:g.63189680C>T	(Likely) pathogenic	1 lab	f0f7ce579e
2:1921036 MYT1L A>G	2	1921036	1921036	A	G	MYT1L	c.1559T>C	NM_001303052.2	NP_001289981.1:p.(Leu520Pro)	NC_000002.11:g.1921036A>G	(Likely) pathogenic	1 lab	f0fa02bcf8
1:196881911 CFHR4 A>G	1	196881911	196881911	A	G	CFHR4	c.1039A>G	NM_001201550.3	NP_001188479.1:p.(Ile347Val)	NC_000001.10:g.196881911A>G	(Likely) benign	1 lab	f0faaf7e3d
20:62319464 RTEL1 T>C	20	62319464	62319464	T	C	RTEL1	c.1668-28T>C	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62319464T>C	(Likely) benign	1 lab	f0fb2efa94
10:123260445 FGFR2 G>C	10	123260445	123260445	G	C	FGFR2	c.1456C>G	NM_000141.4	NP_000132.3:p.(Pro486Ala)	NC_000010.10:g.123260445G>C	VUS	1 lab	f0fbf0ea3b
6:32007625 TNXB C>T	6	32007625	32007625	C	T	TNXB				NC_000006.11:g.32007625C>T	(Likely) benign	1 lab	f1044ab666
12:112888197 PTPN11 T>G	12	112888197	112888197	T	G	PTPN11	c.213T>G	NM_002834.3	NP_002825.3:p.(Phe71Leu)	NC_000012.11:g.112888197T>G	(Likely) pathogenic	1 lab	f1050336a2
17:18054692 MYO15A G>A	17	18054692	18054692	G	A	MYO15A	c.7655-17G>A	NM_016239.3	NP_057323.3:p.?	NC_000017.10:g.18054692G>A	(Likely) benign	1 lab	f1067fb2cf
17:73761111 GALK1 C>T	17	73761111	73761111	C	T	GALK1	c.107G>A	NM_000154.1	NP_000145.1:p.(Gly36Asp)	NC_000017.10:g.73761111C>T	VUS	1 lab	f106d3e096
1:236914936 ACTN2 G>A	1	236914936	236914936	G	A	ACTN2	c.1199G>A	NM_001278344.2	NP_001265273.1:p.(Arg400Gln)	NC_000001.10:g.236914936G>A	(Likely) benign	1 lab	16b7a805a9
14:102478440 DYNC1H1 G>A	14	102478440	102478440	G	A	DYNC1H1	c.6847G>A	NM_001376.5	NP_001367.2:p.(Val2283Met)	NC_000014.8:g.102478440G>A	VUS	1 lab	16ba52189f
1:120611498 NOTCH2 G>C	1	120611498	120611498	G	C	NOTCH2	c.73+450C>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120611498G>C	(Likely) benign	1 lab	16bc345dfe
1:11184573 MTOR G>A	1	11184573	11184573	G	A	MTOR	c.6644C>T	NM_004958.4	NP_004949.1:p.(Ser2215Phe)	NC_000001.10:g.11184573G>A	(Likely) pathogenic	1 lab	f1132ca33e
18:46906114 DYM G>A	18	46906114	46906114	G	A	DYM	c.208C>T	NM_001353214.3	NP_001340143.1:p.(Arg70Ter)	NC_000018.9:g.46906114G>A	(Likely) pathogenic	1 lab	f11425898c
2:167094788 SCN9A A>C	2	167094788	167094788	A	C	SCN9A	c.3595-11T>G	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167094788A>C	VUS	1 lab	f1147a6066
12:49434965 KMT2D A>T	12	49434965	49434965	A	T	KMT2D	c.6588T>A	NM_003482.3	NP_003473.3:p.(Tyr2196Ter)	NC_000012.11:g.49434965A>T	(Likely) pathogenic	1 lab	f118541eeb
3:11067991 SLC6A1 G>A	3	11067991	11067991	G	A	SLC6A1	c.1024G>A	NM_003042.3	NP_003033.3:p.(Val342Met)	NC_000003.11:g.11067991G>A	(Likely) pathogenic	1 lab	f118a05625
18:44121820 LOXHD1 A>G	18	44121820	44121820	A	G	LOXHD1	c.3832T>C	NM_144612.6	NP_653213.6:p.(Trp1278Arg)	NC_000018.9:g.44121820A>G	VUS	1 lab	f119d77735
2:238268775 COL6A3 C>T	2	238268775	238268775	C	T	COL6A3	c.6238G>A	NM_004369.3	NP_004360.2:p.(Gly2080Ser)	NC_000002.11:g.238268775C>T	(Likely) pathogenic	1 lab	f11ccce7e0
5:112175621 APC C>T	5	112175621	112175621	C	T	APC	c.4330C>T	NM_000038.6	NP_000029.2:p.(Gln1444Ter)	NC_000005.9:g.112175621C>T	(Likely) pathogenic	1 lab	f11e8bd1f0
X:18665306 CDKL5 C>G	X	18665306	18665306	C	G	CDKL5				NC_000023.10:g.18665306C>G	(Likely) pathogenic	1 lab	f12192991d
11:2291328 ASCL2 G>A	11	2291328	2291328	G	A	ASCL2	c.235C>T	NM_005170.2	NP_005161.1:p.(His79Tyr)	NC_000011.9:g.2291328G>A	(Likely) benign	1 lab	f1256ebf56
14:92480710 TRIP11 TTGTC>T	14	92480710	92480715	TTGTC	T	TRIP11	c.1031_1034del	NM_004239.3	NP_004230.2:p.(Arg344LysfsTer2)	NC_000014.8:g.92480712_92480715del	(Likely) pathogenic	1 lab	f125e3c830
11:2325412 TSPAN32 A>G	11	2325412	2325412	A	G	TSPAN32	c.257A>G	NM_139022.3	NP_620591.3:p.(Glu86Gly)	NC_000011.9:g.2325412A>G	VUS	1 lab	0533d8b559
16:89348574 ANKRD11 TTC>T	16	89348574	89348579	TTC	T	ANKRD11	c.4374_4375del	NM_013275.6	NP_037407.4:p.(Lys1459GlufsTer94)	NC_000016.9:g.89348578_89348579del	(Likely) pathogenic	1 lab	f1261321d9
1:161284158 SDHC G>A	1	161284158	161284158	G	A	SDHC				NC_000001.10:g.161284158G>A	(Likely) benign	1 lab	f1265c32a5
19:14876354 ADGRE2 G>C	19	14876354	14876354	G	C	ADGRE2	c.810C>G	NM_013447.4	NP_038475.2:p.(Pro270=)	NC_000019.9:g.14876354G>C	(Likely) benign	1 lab	182285f8f3
1:76199288 ACADM C>T	1	76199288	76199288	C	T	ACADM	c.374C>T	NM_001127328.2	NP_001120800.1:p.(Thr125Ile)	NC_000001.10:g.76199288C>T	(Likely) pathogenic	1 lab	f12736d745
2:16086149 MYCN T>C	2	16086149	16086149	T	C	MYCN	c.1325T>C	NM_005378.4	NP_005369.2:p.(Leu442Pro)	NC_000002.11:g.16086149T>C	(Likely) pathogenic	1 lab	f127cd0836
8:38274892 FGFR1 A>G	8	38274892	38274892	A	G	FGFR1				NC_000008.10:g.38274892A>G	VUS	1 lab	f12af7f464
X:100612494 BTK TA>T	X	100612494	100612495	TA	T	BTK	c.1177+2del	NM_000061.3	NP_000052.1:p.?	NC_000023.10:g.100612495del	(Likely) pathogenic	1 lab	f12f6db7c6
1:207930949 CD46 C>A	1	207930949	207930949	C	A	CD46	c.351C>A	NM_172359.3	NP_758869.1:p.(Tyr117Ter)	NC_000001.10:g.207930949C>A	(Likely) pathogenic	1 lab	f12f94bcce
1:43393409 SLC2A1 C>T	1	43393409	43393409	C	T	SLC2A1				NC_000001.10:g.43393409C>T	(Likely) pathogenic	1 lab	f1305f695f
2:215595130 BARD1 A>C	2	215595130	215595130	A	C	BARD1	c.2001+5T>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215595130A>C	(Likely) benign	1 lab	f13182e88f
10:89692884 PTEN A>T	10	89692884	89692884	A	T	PTEN	c.368A>T	NM_000314.4	NP_000305.3:p.(His123Leu)	NC_000010.10:g.89692884A>T	(Likely) pathogenic	1 lab	f131aa758d
13:32906907 BRCA2 C>T	13	32906907	32906907	C	T	BRCA2	c.1292C>T	NM_000059.3	NP_000050.2:p.(Thr431Ile)	NC_000013.10:g.32906907C>T	(Likely) benign	1 lab	f13461846d
10:68526060 CTNNA3 C>G	10	68526060	68526060	C	G	CTNNA3	c.1243G>C	NM_013266.3	NP_037398.2:p.(Ala415Pro)	NC_000010.10:g.68526060C>G	VUS	1 lab	f1357c3437
7:23164782 KLHL7 A>G	7	23164782	23164782	A	G	KLHL7	c.433A>G	NM_001031710.3	NP_001026880.2:p.(Asn145Asp)	NC_000007.13:g.23164782A>G	(Likely) pathogenic	1 lab	f138bb2260
13:36909733 SPART G>A	13	36909733	36909733	G	A	SPART	c.235C>T	NM_001142296.1	NP_001135768.1:p.(Gln79Ter)	NC_000013.10:g.36909733G>A	(Likely) pathogenic	1 lab	f138d67d92
17:68172402 KCNJ2 C>G	17	68172402	68172402	C	G	KCNJ2	c.1222C>G	NM_000891.2	NP_000882.1:p.(Leu408Val)	NC_000017.10:g.68172402C>G	(Likely) benign	1 lab	f13a2c2638
6:2955853 SERPINB6 G>A	6	2955853	2955853	G	A	SERPINB6	c.217C>T	NM_001195291.1	NP_001182220.1:p.(Gln73Ter)	NC_000006.11:g.2955853G>A	VUS	1 lab	f13a8df562
1:31426700 PUM1 G>A	1	31426700	31426700	G	A	PUM1	c.2452C>T	NM_001020658.2	NP_001018494.1:p.(Arg818Ter)	NC_000001.10:g.31426700G>A	VUS	1 lab	16c1658ec4
9:131373997 SPTAN1 A>G	9	131373997	131373997	A	G	SPTAN1	c.4778A>G	NM_001130438.3	NP_001123910.1:p.(Lys1593Arg)	NC_000009.11:g.131373997A>G	VUS	1 lab	f13dccd178
13:100634867 ZIC2 GC>G	13	100634867	100634870	GC	G	ZIC2	c.552del	NM_007129.3	NP_009060.2:p.(Gly185AlafsTer33)	NC_000013.10:g.100634870del	(Likely) pathogenic	1 lab	f13f6ea18d
1:180217434 LHX4 G>A	1	180217434	180217434	G	A	LHX4	c.91G>A	NM_033343.4	NP_203129.1:p.(Ala31Thr)	NC_000001.10:g.180217434G>A	VUS	1 lab	f13fdd2fde
11:120980181 TECTA T>C	11	120980181	120980181	T	C	TECTA				NC_000011.9:g.120980181T>C	VUS	1 lab	f141621f00
7:143027931 CLCN1 T>C	7	143027931	143027931	T	C	CLCN1	c.920T>C	NM_000083.2	NP_000074.2:p.(Phe307Ser)	NC_000007.13:g.143027931T>C	VUS	1 lab	f1464c69b4
8:13357331 DLC1 C>T	8	13357331	13357331	C	T	DLC1	c.250G>A	NM_182643.3	NP_872584.2:p.(Asp84Asn)	NC_000008.10:g.13357331C>T	(Likely) benign	1 lab	182299b962
2:39237776 SOS1 T>C	2	39237776	39237776	T	C	SOS1	c.2459A>G	NM_005633.4	NP_005624.2:p.(Asn820Ser)	NC_000002.11:g.39237776T>C	VUS	1 lab	f149a62b9e
2:179412680 TTN T>C	2	179412680	179412680	T	C	TTN	c.93673A>G	NM_001267550.2	NP_001254479.2:p.(Ile31225Val)	NC_000002.11:g.179412680T>C	VUS	1 lab	16c754ea05
5:6607342 NSUN2 AT>A	5	6607342	6607344	AT	A	NSUN2	c.1478del	NM_017755.5	NP_060225.4:p.(Asn493IlefsTer18)	NC_000005.9:g.6607344del	(Likely) pathogenic	1 lab	f14aca5d0e
10:88441173 LDB3 C>T	10	88441173	88441173	C	T	LDB3	c.322-20C>T	NM_007078.2	NP_009009.1:p.?	NC_000010.10:g.88441173C>T	(Likely) benign	1 lab	f14d02c268
12:50357938 AQP5 C>T	12	50357938	50357938	C	T	AQP5	c.592C>T	NM_001651.4	NP_001642.1:p.(Arg198Trp)	NC_000012.11:g.50357938C>T	VUS	1 lab	f150d84fe7
5:156671294 ITK G>A	5	156671294	156671294	G	A	ITK	c.1255G>A	NM_005546.4	NP_005537.3:p.(Val419Met)	NC_000005.9:g.156671294G>A	VUS	1 lab	16c7ae2ede
1:216062120 USH2A G>A	1	216062120	216062120	G	A	USH2A	c.7871C>T	NM_206933.2	NP_996816.2:p.(Pro2624Leu)	NC_000001.10:g.216062120G>A	VUS	1 lab	f15273c56e
5:73168845 ARHGEF28 A>G	5	73168845	73168845	A	G	ARHGEF28	c.2588A>G	NM_001080479.2	NP_001073948.2:p.(His863Arg)	NC_000005.9:g.73168845A>G	VUS	1 lab	f153a53586
X:30326746 NR0B1 CGGCCGCA>C	X	30326746	30326754	CGGCCGCA	C	NR0B1	c.728_734del	NM_000475.5	NP_000466.2:p.(Leu243ArgfsTer19)	NC_000023.10:g.30326748_30326754del	(Likely) pathogenic	1 lab	16c8237387
14:23886000 MYH7 C>T	14	23886000	23886000	C	T	MYH7	c.4644+77G>A	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886000C>T	(Likely) benign	1 lab	f1546ac4b9
9:710971 KANK1 C>T	9	710971	710971	C	T	KANK1	c.205C>T	NM_001256876.1	NP_001243805.1:p.(Pro69Ser)	NC_000009.11:g.710971C>T	VUS	1 lab	f157341f77
15:48764849 FBN1 A>T	15	48764849	48764849	A	T	FBN1	c.4235T>A	NM_000138.5	NP_000129.3:p.(Leu1412Gln)	NC_000015.9:g.48764849A>T	VUS	1 lab	f15796e3e3
17:29508804 NF1 G>C	17	29508804	29508804	G	C	NF1	c.730+1G>C	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29508804G>C	(Likely) pathogenic	1 lab	f15c09e226
6:33144529 COL11A2 TTCC>T	6	33144529	33144532	TTCC	T	COL11A2	c.2081_2083del	NM_080680.3	NP_542411.2:p.(Gly694_Lys695delinsGlu)	NC_000006.11:g.33144530_33144532del	(Likely) pathogenic	1 lab	16ccc765e0
6:32008343 CYP21A2 G>A	6	32008343	32008343	G	A	CYP21A2	c.1100G>A	NM_000500.7	NP_000491.4:p.(Arg367His)	NC_000006.11:g.32008343G>A	VUS	1 lab	f165dba9dc
10:121432063 BAG3 A>C	10	121432063	121432063	A	C	BAG3	c.804A>C	NM_004281.3	NP_004272.2:p.(Ser268=)	NC_000010.10:g.121432063A>C	(Likely) benign	1 lab	f165f99788
22:29120947 CHEK2 A>G	22	29120947	29120947	A	G	CHEK2	c.592+18T>C	NM_007194.3	NP_009125.1:p.?	NC_000022.10:g.29120947A>G	(Likely) benign	1 lab	f16757999d
13:110844605 COL4A1 C>T	13	110844605	110844605	C	T	COL4A1	c.1492G>A	NM_001845.4	NP_001836.2:p.(Gly498Ser)	NC_000013.10:g.110844605C>T	(Likely) pathogenic	1 lab	f1679dd941
17:78445537 NPTX1 C>T	17	78445537	78445537	C	T	NPTX1	c.1072G>A	NM_002522.4	NP_002513.2:p.(Glu358Lys)	NC_000017.10:g.78445537C>T	VUS	1 lab	16ce9b316f
19:54627184 PRPF31 T>C	19	54627184	54627184	T	C	PRPF31	c.584T>C	NM_015629.3	NP_056444.3:p.(Leu195Pro)	NC_000019.9:g.54627184T>C	VUS	1 lab	f16af47f07
14:51081143 ATL1 C>A	14	51081143	51081143	C	A	ATL1	c.776C>A	NM_015915.4	NP_056999.2:p.(Ser259Tyr)	NC_000014.8:g.51081143C>A	(Likely) pathogenic	1 lab	f16c91cea8
X:29301118 IL1RAPL1 T>C	X	29301118	29301118	T	C	IL1RAPL1	c.146T>C	NM_014271.4	NP_055086.1:p.(Val49Ala)	NC_000023.10:g.29301118T>C	VUS	1 lab	16d3b2f531
13:32912779 BRCA2 G>T	13	32912779	32912779	G	T	BRCA2	c.4287G>T	NM_000059.3	NP_000050.2:p.(Gln1429His)	NC_000013.10:g.32912779G>T	(Likely) benign	1 lab	f16d6848b1
16:53738100 FTO A>G	16	53738100	53738100	A	G	FTO	c.4A>G	NM_001080432.3	NP_001073901.1:p.(Lys2Glu)	NC_000016.9:g.53738100A>G	VUS	1 lab	16d3b9bcd9
16:21752158 OTOA G>C	16	21752158	21752158	G	C	OTOA	c.2548G>C	NM_144672.3	NP_653273.3:p.(Val850Leu)	NC_000016.9:g.21752158G>C	VUS	1 lab	f174e56544
6:157502211 ARID1B G>C	6	157502211	157502211	G	C	ARID1B	c.3244G>C	NM_020732.3	NP_065783.3:p.(Glu1082Gln)	NC_000006.11:g.157502211G>C	VUS	1 lab	f175112e2a
1:4772479 AJAP1 G>T	1	4772479	4772479	G	T	AJAP1	c.549G>T	NM_018836.4	NP_061324.1:p.(Trp183Cys)	NC_000001.10:g.4772479G>T	VUS	1 lab	f176cb4f57
6:65767633 EYS G>GA	6	65767633	65767634	G	GA	EYS	c.2024-14_2024-13insT	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.65767633_65767634insA	(Likely) benign	1 lab	f17a4728d9
14:21868137 CHD8 T>A	14	21868137	21868137	T	A	CHD8	c.4817+3A>T	NM_001170629.1	NP_001164100.1:p.?	NC_000014.8:g.21868137T>A	(Likely) pathogenic	1 lab	f17ab44ebd
11:111959703 SDHD C>G	11	111959703	111959703	C	G	SDHD	c.282C>G	NM_003002.2	NP_002993.1:p.(Ser94=)	NC_000011.9:g.111959703C>G	(Likely) benign	1 lab	f17b340d06
15:43086896 TTBK2 G>C	15	43086896	43086896	G	C	TTBK2	c.926C>G	NM_173500.4	NP_775771.3:p.(Thr309Ser)	NC_000015.9:g.43086896G>C	(Likely) benign	1 lab	f17c740c5f
2:169791739 ABCB11 C>T	2	169791739	169791739	C	T	ABCB11	c.3011G>A	NM_003742.2	NP_003733.2:p.(Gly1004Asp)	NC_000002.11:g.169791739C>T	(Likely) pathogenic	1 lab	f17da34632
2:227924195 COL4A4 G>A	2	227924195	227924195	G	A	COL4A4	c.2309C>T	NM_000092.4	NP_000083.3:p.(Pro770Leu)	NC_000002.11:g.227924195G>A	VUS	1 lab	f17f26a205
14:24626537 RNF31 C>T	14	24626537	24626537	C	T	RNF31	c.2532C>T	NM_017999.5	NP_060469.4:p.(Phe844=)	NC_000014.8:g.24626537C>T	(Likely) benign	1 lab	16d6dada05
17:37922624 IKZF3 C>T	17	37922624	37922624	C	T	IKZF3	c.949G>A	NM_012481.5	NP_036613.2:p.(Ala317Thr)	NC_000017.10:g.37922624C>T	VUS	1 lab	16d6f58212
18:12337517 AFG3L2 C>T	18	12337517	12337517	C	T	AFG3L2	c.1998G>A	NM_006796.2	NP_006787.2:p.(Met666Ile)	NC_000018.9:g.12337517C>T	VUS	1 lab	f184701c86
7:56087423 PSPH G>A	7	56087423	56087423	G	A	PSPH	c.145C>T	NM_004577.4	NP_004568.2:p.(Arg49Trp)	NC_000007.13:g.56087423G>A	(Likely) benign	1 lab	16ddbbc321
12:125436943 MISSING C>T	12	125436943	125436943	C	T	MISSING				NC_000012.11:g.125436943C>T	VUS	1 lab	f18b12e321
11:125859642 CDON C>T	11	125859642	125859642	C	T	CDON	c.2663G>A	NM_001243597.1	NP_001230526.1:p.(Trp888Ter)	NC_000011.9:g.125859642C>T	(Likely) benign	1 lab	f18b77ffe4
8:144992923 PLEC G>A	8	144992923	144992923	G	A	PLEC	c.11147C>T	NM_000445.5	NP_000436.2:p.(Thr3716Met)	NC_000008.10:g.144992923G>A	VUS	1 lab	16def78cbd
12:53876624 MAP3K12 C>T	12	53876624	53876624	C	T	MAP3K12	c.1963G>A	NM_001193511.1	NP_001180440.1:p.(Gly655Ser)	NC_000012.11:g.53876624C>T	VUS	1 lab	f18ca824b8
3:48602864 COL7A1 C>T	3	48602864	48602864	C	T	COL7A1	c.8506G>A	NM_000094.4	NP_000085.1:p.(Val2836Ile)	NC_000003.11:g.48602864C>T	VUS	1 lab	16e14403f8
11:47368539 MYBPC3 C>T	11	47368539	47368539	C	T	MYBPC3	c.908+39G>A	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368539C>T	(Likely) benign	1 lab	f18f13f25a
21:45711080 AIRE C>T	21	45711080	45711080	C	T	AIRE	c.982C>T	NM_000383.4	NP_000374.1:p.(Arg328Trp)	NC_000021.8:g.45711080C>T	VUS	1 lab	16e4b741ed
13:100925572 PCCA A>G	13	100925572	100925572	A	G	PCCA	c.1037A>G	NM_000282.4	NP_000273.2:p.(Tyr346Cys)	NC_000013.10:g.100925572A>G	VUS	1 lab	16e68e1143
17:1639458 WDR81 A>G	17	1639458	1639458	A	G	WDR81	c.5451A>G	NM_001163809.2	NP_001157281.1:p.(Thr1817=)	NC_000017.10:g.1639458A>G	(Likely) benign	1 lab	16e73b7ab3
12:114841544 TBX5 G>T	12	114841544	114841544	G	T	TBX5	c.147+13C>A	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114841544G>T	(Likely) benign	1 lab	f1929b10e7
1:94496020 ABCA4 C>T	1	94496020	94496020	C	T	ABCA4	c.4316G>A	NM_000350.2	NP_000341.2:p.(Gly1439Asp)	NC_000001.10:g.94496020C>T	VUS	1 lab	f193a490c2
X:153588738 FLNA T>A	X	153588738	153588738	T	A	FLNA	c.3425A>T	NM_001456.3	NP_001447.2:p.(Asp1142Val)	NC_000023.10:g.153588738T>A	(Likely) pathogenic	1 lab	f195131b0d
14:95562161 DICER1 C>T	14	95562161	95562161	C	T	DICER1	c.5095+1G>A	NM_177438.2	NP_803187.1:p.?	NC_000014.8:g.95562161C>T	(Likely) pathogenic	1 lab	f195ba7ac3
6:152722352 SYNE1 G>A	6	152722352	152722352	G	A	SYNE1	c.6950C>T	NM_182961.3	NP_892006.3:p.(Thr2317Ile)	NC_000006.11:g.152722352G>A	(Likely) benign	1 lab	f19650cbaa
7:91668023 AKAP9 C>A	7	91668023	91668023	C	A	AKAP9	c.4629C>A	NM_005751.4	NP_005742.4:p.(Asp1543Glu)	NC_000007.13:g.91668023C>A	(Likely) benign	1 lab	f1994f85ef
5:130517930 LYRM7 A>C	5	130517930	130517930	A	C	LYRM7	c.100A>C	NM_181705.3	NP_859056.2:p.(Ile34Leu)	NC_000005.9:g.130517930A>C	VUS	1 lab	f199be538c
2:179395951 TTN T>C	2	179395951	179395951	T	C	TTN	c.105391A>G	NM_001267550.1	NP_001254479.1:p.(Ile35131Val)	NC_000002.11:g.179395951T>C	(Likely) benign	1 lab	f1a2de3f12
1:151143398 TMOD4 G>A	1	151143398	151143398	G	A	TMOD4	c.868C>T	NM_013353.2	NP_037485.2:p.(Gln290Ter)	NC_000001.10:g.151143398G>A	VUS	1 lab	f1a6fc26a4
X:13794354 GPM6B C>CA	X	13794354	13794355	C	CA	GPM6B	c.837+2dup	NM_001001995.2	NP_001001995.1:p.?	NC_000023.10:g.13794355dup	VUS	1 lab	f1a820433d
6:32008904 TNXB G>A	6	32008904	32008904	G	A	TNXB				NC_000006.11:g.32008904G>A	(Likely) benign	1 lab	f1aa82c6f2
16:2812427 SRRM2 G>A	16	2812427	2812427	G	A	SRRM2	c.1898G>A	NM_016333.3	NP_057417.3:p.(Arg633His)	NC_000016.9:g.2812427G>A	VUS	1 lab	f1abe28187
4:120072056 MYOZ2 G>GA	4	120072056	120072057	G	GA	MYOZ2				NC_000004.11:g.120072056_120072057insA	VUS	1 lab	f1b32e66c7
3:37089143 MLH1 T>C	3	37089143	37089143	T	C	MLH1	c.1865T>C	NM_000249.3	NP_000240.1:p.(Leu622Pro)	NC_000003.11:g.37089143T>C	(Likely) pathogenic	1 lab	f1b5c5536d
1:8419843 RERE C>T	1	8419843	8419843	C	T	RERE	c.3599G>A	NM_012102.4	NP_036234.3:p.(Arg1200His)	NC_000001.10:g.8419843C>T	(Likely) benign	1 lab	16eabb9a26
2:223096844 PAX3 T>C	2	223096844	223096844	T	C	PAX3				NC_000002.11:g.223096844T>C	(Likely) pathogenic	1 lab	f1bec06fec
10:104140347 GBF1 G>A	10	104140347	104140347	G	A	GBF1	c.5077G>A	NM_001377137.1	NP_001364066.1:p.(Gly1693Ser)	NC_000010.10:g.104140347G>A	VUS	1 lab	f1c118e9c0
3:184094034 THPO C>G	3	184094034	184094034	C	G	THPO	c.13+1G>C	NM_000460.4	NP_000451.1:p.?	NC_000003.11:g.184094034C>G	(Likely) pathogenic	1 lab	f1c2bfd799
10:6066195 IL2RA T>A	10	6066195	6066195	T	A	IL2RA	c.367+12A>T	NM_000417.3	NP_000408.1:p.?	NC_000010.10:g.6066195T>A	(Likely) benign	1 lab	16ec7bac53
11:125853787 CDON C>T	11	125853787	125853787	C	T	CDON	c.2975G>A	NM_001243597.2	NP_001230526.1:p.(Arg992His)	NC_000011.9:g.125853787C>T	(Likely) benign	1 lab	16edbcbce1
13:32953462 BRCA2 CAG>C	13	32953462	32953464	CAG	C	BRCA2	c.8764_8765del	NM_000059.3	NP_000050.2:p.(Ser2922Ter)	NC_000013.10:g.32953463_32953464del	(Likely) pathogenic	1 lab	f1c98bc78b
9:123726029 C5 A>G	9	123726029	123726029	A	G	C5	c.4221-13T>C	NM_001735.2	NP_001726.2:p.?	NC_000009.11:g.123726029A>G	(Likely) benign	1 lab	f1dc357043
15:42682173 CAPN3 G>A	15	42682173	42682173	G	A	CAPN3	c.824G>A	NM_000070.3	NP_000061.1:p.(Gly275Glu)	NC_000015.9:g.42682173G>A	VUS	1 lab	f1dd897f05
2:167322455 SCN7A T>G	2	167322455	167322455	T	G	SCN7A	c.707A>C	NM_002976.4	NP_002967.2:p.(Gln236Pro)	NC_000002.11:g.167322455T>G	(Likely) benign	1 lab	f1e066ac1e
4:155530828 FGG T>C	4	155530828	155530828	T	C	FGG	c.620A>G	NM_000509.6	NP_000500.2:p.(Tyr207Cys)	NC_000004.11:g.155530828T>C	(Likely) pathogenic	1 lab	f1e12eca38
14:23874937 MYH6 G>A	14	23874937	23874937	G	A	MYH6	c.244C>T	NM_002471.3	NP_002462.2:p.(Pro82Ser)	NC_000014.8:g.23874937G>A	VUS	1 lab	f1e182dc9a
10:94366101 KIF11 C>T	10	94366101	94366101	C	T	KIF11	c.157C>T	NM_004523.3	NP_004514.2:p.(Arg53Ter)	NC_000010.10:g.94366101C>T	(Likely) pathogenic	1 lab	f1e37d8278
6:7542259 DSP C>T	6	7542259	7542259	C	T	DSP	c.111C>T	NM_004415.4	NP_004406.2:p.(Thr37=)	NC_000006.11:g.7542259C>T	(Likely) benign	1 lab	f1e5eed62f
19:39075633 RYR1 G>A	19	39075633	39075633	G	A	RYR1	c.14697G>A	NM_000540.2	NP_000531.2:p.(Gly4899=)	NC_000019.9:g.39075633G>A	(Likely) benign	1 lab	f1e966416b
3:38991653 SCN11A G>A	3	38991653	38991653	G	A	SCN11A	c.201C>T	NM_001349253.2	NP_001336182.1:p.(Gly67=)	NC_000003.11:g.38991653G>A	(Likely) benign	1 lab	f1eac79e35
11:76900393 MYO7A G>A	11	76900393	76900393	G	A	MYO7A	c.3508G>A	NM_000260.3	NP_000251.3:p.(Glu1170Lys)	NC_000011.9:g.76900393G>A	(Likely) pathogenic	1 lab	f1ed690503
1:200539111 KIF14 T>C	1	200539111	200539111	T	C	KIF14	c.3589A>G	NM_014875.3	NP_055690.1:p.(Arg1197Gly)	NC_000001.10:g.200539111T>C	(Likely) benign	1 lab	182db5abcc
4:94750342 ATOH1 G>A	4	94750342	94750342	G	A	ATOH1	c.265G>A	NM_005172.2	NP_005163.1:p.(Ala89Thr)	NC_000004.11:g.94750342G>A	VUS	1 lab	f1ee8dc2ac
X:18665414 RS1 C>A	X	18665414	18665414	C	A	RS1	c.223G>T	NM_000330.4	NP_000321.1:p.(Glu75Ter)	NC_000023.10:g.18665414C>A	(Likely) pathogenic	1 lab	f1f1a9fab6
1:228528901 OBSCN C>T	1	228528901	228528901	C	T	OBSCN	c.20674C>T	NM_001271223.2	NP_001258152.2:p.(Arg6892Trp)	NC_000001.10:g.228528901C>T	(Likely) benign	1 lab	f1f4223d42
2:223065870 PAX3 C>G	2	223065870	223065870	C	G	PAX3	c.*23G>C	NM_181459.3	NP_852124.1:p.?	NC_000002.11:g.223065870C>G	(Likely) benign	1 lab	f1f5119d08
4:108871560 CYP2U1 T>A	4	108871560	108871560	T	A	CYP2U1	c.1616T>A	NM_183075.2	NP_898898.1:p.(Ile539Lys)	NC_000004.11:g.108871560T>A	VUS	1 lab	f1f6359f9e
11:108121757 ATM A>G	11	108121757	108121757	A	G	ATM	c.1565A>G	NM_000051.3	NP_000042.3:p.(Glu522Gly)	NC_000011.9:g.108121757A>G	VUS	1 lab	f1f7ffff94
19:38959643 RYR1 G>A	19	38959643	38959643	G	A	RYR1	c.3419G>A	NM_000540.2	NP_000531.2:p.(Arg1140His)	NC_000019.9:g.38959643G>A	VUS	1 lab	f1fced1e71
13:100637661 ZIC2 TC>T	13	100637661	100637666	TC	T	ZIC2	c.1329del	NM_007129.3	NP_009060.2:p.(Ser444AlafsTer111)	NC_000013.10:g.100637666del	(Likely) pathogenic	1 lab	f1fee32d94
3:38639405 SCN5A G>A	3	38639405	38639405	G	A	SCN5A	c.2077C>T	NM_198056.2	NP_932173.1:p.(Arg693Cys)	NC_000003.11:g.38639405G>A	VUS	1 lab	f2004e535e
1:103540280 COL11A1 C>A	1	103540280	103540280	C	A	COL11A1	c.545G>T	NM_001854.4	NP_001845.3:p.(Cys182Phe)	NC_000001.10:g.103540280C>A	VUS	1 lab	f2048a817e
9:136509451 DBH C>T	9	136509451	136509451	C	T	DBH	c.1024+9C>T	NM_000787.3	NP_000778.3:p.?	NC_000009.11:g.136509451C>T	(Likely) benign	1 lab	f2063d7716
4:187122303 CYP4V2 TCATACAGGTCATCGCT>GC	4	187122303	187122319	TCATACAGGTCATCGCT	GC	CYP4V2	c.802-8_810delinsGC	NM_207352.4	NP_997235.3:p.?	NC_000004.11:g.187122303_187122319delinsGC	(Likely) pathogenic	1 lab	f20b6376db
5:92924139 NR2F1 T>C	5	92924139	92924139	T	C	NR2F1	c.980T>C	NM_005654.6	NP_005645.1:p.(Leu327Pro)	NC_000005.9:g.92924139T>C	(Likely) pathogenic	1 lab	f20c9562eb
11:65488180 RNASEH2C C>G	11	65488180	65488180	C	G	RNASEH2C	c.50G>C	NM_032193.4	NP_115569.2:p.(Arg17Pro)	NC_000011.9:g.65488180C>G	VUS	1 lab	16f7e631e2
13:35734140 NBEA C>T	13	35734140	35734140	C	T	NBEA	c.3832C>T	NM_015678.4	NP_056493.3:p.(Arg1278Ter)	NC_000013.10:g.35734140C>T	(Likely) pathogenic	1 lab	f21021bc32
8:126091077 WASHC5 G>A	8	126091077	126091077	G	A	WASHC5	c.614C>T	NM_014846.4	NP_055661.3:p.(Ser205Phe)	NC_000008.10:g.126091077G>A	VUS	1 lab	16f8a512ee
X:49109591 FOXP3 C>T	X	49109591	49109591	C	T	FOXP3	c.1040G>A	NM_014009.4	NP_054728.2:p.(Arg347His)	NC_000023.10:g.49109591C>T	(Likely) pathogenic	1 lab	f2116fc3d2
X:18943866 PHKA2 G>A	X	18943866	18943866	G	A	PHKA2	c.1489C>T	NM_000292.3	NP_000283.1:p.(Arg497Ter)	NC_000023.10:g.18943866G>A	(Likely) pathogenic	1 lab	f212e398dd
17:41226489 BRCA1 T>A	17	41226489	41226489	T	A	BRCA1	c.4534A>T	NM_007294.4	NP_009225.1:p.(Ser1512Cys)	NC_000017.10:g.41226489T>A	(Likely) benign	1 lab	f2147209b0
17:33446211 RAD51D A>G	17	33446211	33446211	A	G	RAD51D	c.83-20T>C	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33446211A>G	(Likely) benign	1 lab	f21b0674c0
9:36219862 GNE G>A	9	36219862	36219862	G	A	GNE	c.1882C>T	NM_001128227.3	NP_001121699.1:p.(Gln628Ter)	NC_000009.11:g.36219862G>A	(Likely) pathogenic	1 lab	16f9da764e
13:23915044 SACS A>G	13	23915044	23915044	A	G	SACS	c.2971T>C	NM_014363.4	NP_055178.3:p.(Cys991Arg)	NC_000013.10:g.23915044A>G	VUS	1 lab	f21d34cc8f
4:55589756 KIT C>A	4	55589756	55589756	C	A	KIT	c.1238C>A	NM_000222.2	NP_000213.1:p.(Pro413Gln)	NC_000004.11:g.55589756C>A	VUS	1 lab	f21fb5ba8c
11:61727430 BEST1 A>T	11	61727430	61727430	A	T	BEST1	c.1015A>T	NM_004183.4	NP_004174.1:p.(Asn339Tyr)	NC_000011.9:g.61727430A>T	VUS	1 lab	f2212b9894
21:34442554 OLIG1 T>G	21	34442554	34442554	T	G	OLIG1	c.2T>G	NM_138983.2	NP_620450.2:p.(Met1?)	NC_000021.8:g.34442554T>G	VUS	1 lab	f2228148d8
8:133459232 KCNQ3 G>A	8	133459232	133459232	G	A	KCNQ3	c.386+33162C>T	NM_004519.4	NP_004510.1:p.?	NC_000008.10:g.133459232G>A	(Likely) benign	1 lab	183201932d
1:19202896 ALDH4A1 G>A	1	19202896	19202896	G	A	ALDH4A1	c.1251C>T	NM_003748.3	NP_003739.2:p.(Ala417=)	NC_000001.10:g.19202896G>A	(Likely) benign	1 lab	f226c9ae48
8:55372155 SOX17 C>G	8	55372155	55372155	C	G	SOX17	c.845C>G	NM_022454.4	NP_071899.1:p.(Ser282Trp)	NC_000008.10:g.55372155C>G	VUS	1 lab	16faddc18e
16:23641520 PALB2 C>T	16	23641520	23641520	C	T	PALB2	c.1955G>A	NM_024675.3	NP_078951.2:p.(Ser652Asn)	NC_000016.9:g.23641520C>T	(Likely) benign	1 lab	f22eb54b7d
19:10934526 DNM2 G>T	19	10934526	10934526	G	T	DNM2	c.1844G>T	NM_001005360.2	NP_001005360.1:p.(Ser615Ile)	NC_000019.9:g.10934526G>T	VUS	1 lab	f230420f0d
17:42937401 EFTUD2 G>A	17	42937401	42937401	G	A	EFTUD2	c.1732C>T	NM_001258353.1	NP_001245282.1:p.(Arg578Ter)	NC_000017.10:g.42937401G>A	(Likely) pathogenic	1 lab	f230cb7556
6:45983410 CLIC5 A>T	6	45983410	45983410	A	T	CLIC5				NC_000006.11:g.45983410A>T	(Likely) benign	1 lab	f2336bc16b
20:62305274 RTEL1 G>A	20	62305274	62305274	G	A	RTEL1	c.838-19G>A	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62305274G>A	(Likely) benign	1 lab	f2366067ad
9:6533073 GLDC G>A	9	6533073	6533073	G	A	GLDC	c.3007C>T	NM_000170.2	NP_000161.2:p.(Pro1003Ser)	NC_000009.11:g.6533073G>A	VUS	1 lab	f23aea15f5
16:2161561 PKD1 G>A	16	2161561	2161561	G	A	PKD1	c.3607C>T	NM_001009944.2	NP_001009944.2:p.(Gln1203Ter)	NC_000016.9:g.2161561G>A	(Likely) pathogenic	1 lab	183be5e6ff
3:9517301 SETD5 CT>C	3	9517301	9517302	CT	C	SETD5	c.3856del	NM_001080517.1	NP_001073986.1:p.(Ser1286LeufsTer84)	NC_000003.11:g.9517302del	(Likely) pathogenic	1 lab	f23c14c040
18:3174178 MYOM1 G>A	18	3174178	3174178	G	A	MYOM1	c.1051C>T	NM_003803.3	NP_003794.3:p.(Arg351Trp)	NC_000018.9:g.3174178G>A	(Likely) benign	1 lab	f241c026f2
1:94471115 ABCA4 A>C	1	94471115	94471115	A	C	ABCA4	c.6029T>G	NM_000350.2	NP_000341.2:p.(Val2010Gly)	NC_000001.10:g.94471115A>C	(Likely) pathogenic	1 lab	f243b2056f
3:38797454 SCN10A G>A	3	38797454	38797454	G	A	SCN10A	c.1291-5C>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38797454G>A	(Likely) benign	1 lab	f2449fc6b4
8:100133467 VPS13B T>C	8	100133467	100133467	T	C	VPS13B	c.1000T>C	NM_017890.4	NP_060360.3:p.(Tyr334His)	NC_000008.10:g.100133467T>C	VUS	1 lab	f24537e2ac
5:112174043 APC G>T	5	112174043	112174043	G	T	APC	c.2752G>T	NM_000038.6	NP_000029.2:p.(Glu918Ter)	NC_000005.9:g.112174043G>T	(Likely) pathogenic	1 lab	f2454d19fd
16:3296987 MEFV C>A	16	3296987	3296987	C	A	MEFV	c.1587+29G>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296987C>A	(Likely) benign	1 lab	183c0f2e3b
13:32968789 BRCA2 T>C	13	32968789	32968789	T	C	BRCA2				NC_000013.10:g.32968789T>C	(Likely) benign	1 lab	f2472a8a4d
21:38308859 HLCS CG>C	21	38308859	38308863	CG	C	HLCS	c.1326del	NM_001352514.1	NP_001339443.1:p.(Val443SerfsTer20)	NC_000021.8:g.38308863del	(Likely) pathogenic	1 lab	f247c3ce4f
1:156878044 PEAR1 G>A	1	156878044	156878044	G	A	PEAR1	c.1027G>A	NM_001080471.1	NP_001073940.1:p.(Asp343Asn)	NC_000001.10:g.156878044G>A	(Likely) benign	1 lab	183c5dcaea
8:55541412 RP1 G>T	8	55541412	55541412	G	T	RP1	c.4970G>T	NM_006269.1	NP_006260.1:p.(Cys1657Phe)	NC_000008.10:g.55541412G>T	VUS	1 lab	f24e048f7f
1:26139444 SELENON G>A	1	26139444	26139444	G	A	SELENON	c.1387+161G>A	NM_020451.3	NP_065184.2:p.?	NC_000001.10:g.26139444G>A	(Likely) benign	1 lab	183df9c012
18:2728518 SMCHD1 C>T	18	2728518	2728518	C	T	SMCHD1	c.2837C>T	NM_015295.2	NP_056110.2:p.(Ala946Val)	NC_000018.9:g.2728518C>T	VUS	1 lab	f24ebe25b3
19:50733885 MYH14 G>A	19	50733885	50733885	G	A	MYH14	c.973+5G>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50733885G>A	(Likely) benign	1 lab	f250c03e9e
2:215593537 BARD1 A>G	2	215593537	215593537	A	G	BARD1	c.2197T>C	NM_000465.4	NP_000456.2:p.(Cys733Arg)	NC_000002.11:g.215593537A>G	VUS	1 lab	f252b18c1c
5:112103057 APC C>T	5	112103057	112103057	C	T	APC	c.392C>T	NM_000038.6	NP_000029.2:p.(Thr131Ile)	NC_000005.9:g.112103057C>T	(Likely) benign	1 lab	f256492ce9
1:26387625 TRIM63 A>T	1	26387625	26387625	A	T	TRIM63				NC_000001.10:g.26387625A>T	VUS	1 lab	f25a37848c
16:72821632 ZFHX3 C>CACT	16	72821632	72821633	C	CACT	ZFHX3	c.10542_10543insAGT	NM_006885.4	NP_008816.3:p.(Gly3514_Gly3515insSer)	NC_000016.9:g.72821632_72821633insACT	(Likely) benign	1 lab	16fcf1c712
12:2774122 CACNA1C A>G	12	2774122	2774122	A	G	CACNA1C	c.4364A>G	NM_000719.7	NP_000710.5:p.(Tyr1455Cys)	NC_000012.11:g.2774122A>G	(Likely) pathogenic	1 lab	f25af7f733
9:135147157 SETX C>T	9	135147157	135147157	C	T	SETX	c.7139G>A	NM_015046.6	NP_055861.3:p.(Arg2380Gln)	NC_000009.11:g.135147157C>T	VUS	1 lab	f25f6396fe
14:77492333 IRF2BPL T>TG	14	77492333	77492338	T	TG	IRF2BPL	c.1802dup	NM_024496.4	NP_078772.1:p.(Pro602ThrfsTer13)	NC_000014.8:g.77492338dup	(Likely) pathogenic	1 lab	f262784bac
9:98215833 PTCH1 C>T	9	98215833	98215833	C	T	PTCH1	c.3376G>A	NM_000264.5	NP_000255.2:p.(Val1126Ile)	NC_000009.11:g.98215833C>T	VUS	1 lab	17011b15fe
2:32352092 SPAST G>A	2	32352092	32352092	G	A	SPAST	c.1173+1G>A	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32352092G>A	(Likely) pathogenic	1 lab	f262b99004
7:107336480 SLC26A4 C>T	7	107336480	107336480	C	T	SLC26A4	c.1540C>T	NM_000441.1	NP_000432.1:p.(Gln514Ter)	NC_000007.13:g.107336480C>T	(Likely) pathogenic	1 lab	f263f75008
2:179435391 TTN A>G	2	179435391	179435391	A	G	TTN	c.75468T>C	NM_001267550.1	NP_001254479.1:p.(Ala25156=)	NC_000002.11:g.179435391A>G	(Likely) benign	1 lab	3531957495
17:41835947 SOST T>A	17	41835947	41835947	T	A	SOST	c.163A>T	NM_025237.3	NP_079513.1:p.(Thr55Ser)	NC_000017.10:g.41835947T>A	VUS	1 lab	23d7f76c62
7:140453154 BRAF T>A	7	140453154	140453154	T	A	BRAF	c.1781A>T	NM_004333.4	NP_004324.2:p.(Asp594Val)	NC_000007.13:g.140453154T>A	(Likely) pathogenic	1 lab	f268242e86
1:46660618 POMGNT1 G>A	1	46660618	46660618	G	A	POMGNT1	c.550C>T	NM_017739.3	NP_060209.3:p.(His184Tyr)	NC_000001.10:g.46660618G>A	VUS	1 lab	f2687526fc
2:179528602 TTN C>G	2	179528602	179528602	C	G	TTN	c.36392G>C	NM_001267550.2	NP_001254479.2:p.(Arg12131Pro)	NC_000002.11:g.179528602C>G	(Likely) benign	1 lab	f26b1cc772
6:123850456 TRDN A>G	6	123850456	123850456	A	G	TRDN	c.484+1195T>C	NM_006073.3	NP_006064.2:p.?	NC_000006.11:g.123850456A>G	(Likely) benign	1 lab	f26cadf5a2
16:3293880 MEFV A>G	16	3293880	3293880	A	G	MEFV	c.1772T>C	NM_000243.2	NP_000234.1:p.(Ile591Thr)	NC_000016.9:g.3293880A>G	(Likely) benign	1 lab	1844979ecf
14:95582111 DICER1 G>A	14	95582111	95582111	G	A	DICER1	c.1800C>T	NM_177438.2	NP_803187.1:p.(Asp600=)	NC_000014.8:g.95582111G>A	(Likely) benign	1 lab	f26f605ae3
14:23863442 MYH6 C>T	14	23863442	23863442	C	T	MYH6	c.2520G>A	NM_002471.3	NP_002462.2:p.(Pro840=)	NC_000014.8:g.23863442C>T	(Likely) benign	1 lab	f26f8bf358
X:41203558 DDX3X C>T	X	41203558	41203558	C	T	DDX3X	c.931C>T	NM_001356.5	NP_001347.3:p.(Arg311Ter)	NC_000023.10:g.41203558C>T	(Likely) pathogenic	1 lab	f270198b28
19:18177379 IL12RB1 G>A	19	18177379	18177379	G	A	IL12RB1	c.1456C>T	NM_005535.3	NP_005526.1:p.(Arg486Ter)	NC_000019.9:g.18177379G>A	(Likely) pathogenic	1 lab	f272413176
3:120363188 HGD C>T	3	120363188	120363188	C	T	HGD	c.752G>A	NM_000187.3	NP_000178.2:p.(Gly251Asp)	NC_000003.11:g.120363188C>T	(Likely) pathogenic	1 lab	f2732f255b
8:41550270 ANK1 G>A	8	41550270	41550270	G	A	ANK1	c.3754C>T	NM_000037.4	NP_000028.3:p.(Arg1252Ter)	NC_000008.10:g.41550270G>A	(Likely) pathogenic	1 lab	1848e13f5d
11:17498331 ABCC8 C>A	11	17498331	17498331	C	A	ABCC8	c.-8G>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17498331C>A	(Likely) benign	1 lab	1704d8f358
7:124510964 POT1 C>A	7	124510964	124510964	C	A	POT1	c.255+1G>T	NM_015450.3	NP_056265.2:p.?	NC_000007.13:g.124510964C>A	(Likely) pathogenic	1 lab	f27fa669ce
16:3819311 CREBBP G>C	16	3819311	3819311	G	C	CREBBP	c.2924C>G	NM_004380.3	NP_004371.2:p.(Pro975Arg)	NC_000016.9:g.3819311G>C	VUS	1 lab	1705b9ab63
17:61555391 ACE C>T	17	61555391	61555391	C	T	ACE	c.349C>T	NM_000789.4	NP_000780.1:p.(Leu117=)	NC_000017.10:g.61555391C>T	(Likely) benign	1 lab	184c829474
X:119572129 LAMP2 G>A	X	119572129	119572129	G	A	LAMP2	c.*880C>T	NM_013995.2	NP_054701.1:p.?	NC_000023.10:g.119572129G>A	VUS	1 lab	f284a27279
9:134381811 POMT1 G>A	9	134381811	134381811	G	A	POMT1	c.251G>A	NM_007171.3	NP_009102.3:p.(Gly84Asp)	NC_000009.11:g.134381811G>A	VUS	1 lab	f284b35b8e
5:89948218 ADGRV1 C>T	5	89948218	89948218	C	T	ADGRV1				NC_000005.9:g.89948218C>T	(Likely) pathogenic	1 lab	f288523e4b
8:43025838 HGSNAT G>T	8	43025838	43025838	G	T	HGSNAT	c.743+1G>T	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43025838G>T	(Likely) pathogenic	1 lab	f28aa04dfc
X:106890830 PRPS1 C>T	X	106890830	106890830	C	T	PRPS1	c.705-6C>T	NM_002764.4	NP_002755.1:p.?	NC_000023.10:g.106890830C>T	VUS	1 lab	2461b71695
16:69373414 COG8 T>C	16	69373414	69373414	T	C	COG8	c.42A>G	NM_032382.5	NP_115758.3:p.(Thr14=)	NC_000016.9:g.69373414T>C	(Likely) benign	1 lab	170a0140f8
2:179415882 TTN A>T	2	179415882	179415882	A	T	TTN	c.91376T>A	NM_001267550.2	NP_001254479.2:p.(Ile30459Asn)	NC_000002.11:g.179415882A>T	VUS	1 lab	f28c577ce2
4:6279202 WFS1 C>T	4	6279202	6279202	C	T	WFS1				NC_000004.11:g.6279202C>T	VUS	1 lab	f28c691de1
6:157528795 ARID1B C>T	6	157528795	157528795	C	T	ARID1B	c.6520C>T	NM_020732.3	NP_065783.3:p.(Gln2174Ter)	NC_000006.11:g.157528795C>T	(Likely) pathogenic	1 lab	f28db4e93c
3:121980534 CASR T>C	3	121980534	121980534	T	C	CASR	c.652T>C	NM_000388.3	NP_000379.2:p.(Tyr218His)	NC_000003.11:g.121980534T>C	(Likely) pathogenic	1 lab	f28ed294be
1:155450491 ASH1L C>A	1	155450491	155450491	C	A	ASH1L	c.2170G>T	NM_018489.2	NP_060959.2:p.(Ala724Ser)	NC_000001.10:g.155450491C>A	(Likely) benign	1 lab	f28efbbad7
17:54912334 DGKE C>G	17	54912334	54912334	C	G	DGKE	c.178C>G	NM_003647.3	NP_003638.1:p.(His60Asp)	NC_000017.10:g.54912334C>G	(Likely) pathogenic	1 lab	f28f42ea67
2:48032807 MSH6 C>T	2	48032807	48032807	C	T	MSH6	c.3607C>T	NM_000179.2	NP_000170.1:p.(His1203Tyr)	NC_000002.11:g.48032807C>T	VUS	1 lab	f29082c982
14:57099859 TMEM260 GTATC>G	14	57099859	57099866	GTATC	G	TMEM260	c.1698_1701del	NM_017799.4	NP_060269.3:p.(Tyr567ThrfsTer27)	NC_000014.8:g.57099863_57099866del	(Likely) pathogenic	1 lab	170ebbe89b
3:12645687 RAF1 G>C	3	12645687	12645687	G	C	RAF1	c.782C>G	NM_002880.3	NP_002871.1:p.(Pro261Arg)	NC_000003.11:g.12645687G>C	(Likely) pathogenic	1 lab	f292824177
3:55513331 WNT5A T>C	3	55513331	55513331	T	C	WNT5A				NC_000003.11:g.55513331T>C	(Likely) benign	1 lab	f29363840d
14:74707969 VSX2 G>A	14	74707969	74707969	G	A	VSX2	c.455G>A	NM_182894.2	NP_878314.1:p.(Arg152Lys)	NC_000014.8:g.74707969G>A	VUS	1 lab	f2960da293
X:152991214 ABCD1 C>T	X	152991214	152991214	C	T	ABCD1	c.493C>T	NM_000033.3	NP_000024.2:p.(Arg165Cys)	NC_000023.10:g.152991214C>T	VUS	1 lab	f2980f4a17
1:3328024 PRDM16 G>A	1	3328024	3328024	G	A	PRDM16	c.1263G>A	NM_022114.3	NP_071397.3:p.(Thr421=)	NC_000001.10:g.3328024G>A	(Likely) benign	1 lab	f29c3a8386
11:47368860 MYBPC3 AAACC>A	11	47368860	47368867	AAACC	A	MYBPC3	c.905+113_905+116del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47368864_47368867del	(Likely) benign	1 lab	f2a206fe6b
7:75687393 MDH2 T>G	7	75687393	75687393	T	G	MDH2				NC_000007.13:g.75687393T>G	VUS	1 lab	f2a4314409
11:65314329 LTBP3 T>A	11	65314329	65314329	T	A	LTBP3	c.2170A>T	NM_001130144.3	NP_001123616.1:p.(Ser724Cys)	NC_000011.9:g.65314329T>A	VUS	1 lab	f2a5d50478
X:153595779 FLNA C>T	X	153595779	153595779	C	T	FLNA	c.854G>A	NM_001110556.1	NP_001104026.1:p.(Arg285His)	NC_000023.10:g.153595779C>T	VUS	1 lab	f2a932ccab
12:6122784 VWF C>G	12	6122784	6122784	C	G	VWF	c.5483G>C	NM_000552.3	NP_000543.2:p.(Gly1828Ala)	NC_000012.11:g.6122784C>G	(Likely) pathogenic	1 lab	f2ad67cdf2
20:57480498 GNAS C>T	20	57480498	57480498	C	T	GNAS	c.493C>T	NM_000516.7	NP_000507.1:p.(Arg165Cys)	NC_000020.10:g.57480498C>T	(Likely) pathogenic	1 lab	f2adac50af
22:26995546 CRYBB1 G>A	22	26995546	26995546	G	A	CRYBB1	c.667C>T	NM_001887.4	NP_001878.1:p.(Gln223Ter)	NC_000022.10:g.26995546G>A	(Likely) pathogenic	1 lab	f2b00817a1
X:100611043 BTK G>T	X	100611043	100611043	G	T	BTK	c.1563C>A	NM_000061.2	NP_000052.1:p.(Asp521Glu)	NC_000023.10:g.100611043G>T	VUS	1 lab	18502c072e
11:111680366 ALG9 C>T	11	111680366	111680366	C	T	ALG9	c.1220+1G>A	NM_001352419.1	NP_001339348.1:p.?	NC_000011.9:g.111680366C>T	(Likely) pathogenic	1 lab	f2b2c86e6f
2:86564633 REEP1 T>C	2	86564633	86564633	T	C	REEP1	c.1A>G	NM_022912.2	NP_075063.1:p.(Met1?)	NC_000002.11:g.86564633T>C	(Likely) pathogenic	1 lab	f2b314de08
5:77590277 AP3B1 T>A	5	77590277	77590277	T	A	AP3B1	c.127A>T	NM_003664.5	NP_003655.3:p.(Lys43Ter)	NC_000005.9:g.77590277T>A	(Likely) pathogenic	1 lab	f2b45c1221
11:47355597 MYBPC3 G>A	11	47355597	47355597	G	A	MYBPC3	c.2906-36C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47355597G>A	(Likely) benign	1 lab	f2b4c93c62
13:32912318 BRCA2 G>T	13	32912318	32912318	G	T	BRCA2	c.3826G>T	NM_000059.3	NP_000050.2:p.(Glu1276Ter)	NC_000013.10:g.32912318G>T	(Likely) pathogenic	1 lab	f2ba57ace6
X:48822576 KCND1 C>T	X	48822576	48822576	C	T	KCND1	c.1604G>A	NM_004979.5	NP_004970.3:p.(Arg535His)	NC_000023.10:g.48822576C>T	VUS	1 lab	f2bad0630a
5:112157661 APC G>T	5	112157661	112157661	G	T	APC	c.1381G>T	NM_000038.6	NP_000029.2:p.(Glu461Ter)	NC_000005.9:g.112157661G>T	(Likely) pathogenic	1 lab	f2bb434180
18:52942939 TCF4 T>TCATC	18	52942939	52942944	T	TCATC	TCF4	c.1002_1005dup	NM_001243226.2	NP_001230155.2:p.(Asn336AspfsTer24)	NC_000018.9:g.52942941_52942944dup	(Likely) pathogenic	1 lab	f2c0845faa
14:51094878 ATL1 T>C	14	51094878	51094878	T	C	ATL1	c.1249T>C	NM_015915.4	NP_056999.2:p.(Tyr417His)	NC_000014.8:g.51094878T>C	(Likely) pathogenic	1 lab	f2c0e31b1f
9:137007818 WDR5 G>C	9	137007818	137007818	G	C	WDR5				NC_000009.11:g.137007818G>C	(Likely) pathogenic	1 lab	f2c1c5bf17
11:16340104 SOX6 TA>T	11	16340104	16340105	TA	T	SOX6	c.332del	NM_001367873.1	NP_001354802.1:p.(Ile111LysfsTer2)	NC_000011.9:g.16340105del	(Likely) pathogenic	1 lab	f2c57c4721
15:89816692 FANCI C>T	15	89816692	89816692	C	T	FANCI	c.967C>T	NM_001113378.1	NP_001106849.1:p.(Gln323Ter)	NC_000015.9:g.89816692C>T	(Likely) pathogenic	1 lab	f2ccf3c207
14:37132410 PAX9 C>G	14	37132410	37132410	C	G	PAX9	c.313C>G	NM_006194.3	NP_006185.1:p.(Arg105Gly)	NC_000014.8:g.37132410C>G	VUS	1 lab	f2ce06fea8
11:18318431 HPS5 AG>A	11	18318431	18318434	AG	A	HPS5	c.1423del	NM_181507.1	NP_852608.1:p.(Leu475SerfsTer37)	NC_000011.9:g.18318434del	(Likely) pathogenic	1 lab	f2d5de36d6
3:50683621 MAPKAPK3 C>T	3	50683621	50683621	C	T	MAPKAPK3	c.755C>T	NM_001243926.2	NP_001230855.1:p.(Pro252Leu)	NC_000003.11:g.50683621C>T	VUS	1 lab	f2d66aed95
11:47363547 MYBPC3 G>T	11	47363547	47363547	G	T	MYBPC3	c.1785C>A	NM_000256.3	NP_000247.2:p.(Ile595=)	NC_000011.9:g.47363547G>T	(Likely) benign	1 lab	f2dc55fb00
7:33169655 BBS9 T>C	7	33169655	33169655	T	C	BBS9	c.-12+2T>C	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33169655T>C	(Likely) pathogenic	1 lab	f2dd22e0ad
11:76804860 CAPN5 G>T	11	76804860	76804860	G	T	CAPN5	c.297+1G>T	NM_004055.5	NP_004046.2:p.?	NC_000011.9:g.76804860G>T	VUS	1 lab	f2dd9e83ef
7:94228183 SGCE G>A	7	94228183	94228183	G	A	SGCE	c.1157C>T	NM_001099401.1	NP_001092871.1:p.(Thr386Met)	NC_000007.13:g.94228183G>A	VUS	1 lab	f2df726d17
2:39224464 SOS1 G>C	2	39224464	39224464	G	C	SOS1	c.2894C>G	NM_005633.3	NP_005624.2:p.(Ala965Gly)	NC_000002.11:g.39224464G>C	(Likely) pathogenic	1 lab	f2e0e56567
17:65353653 PSMD12 CAGAG>C	17	65353653	65353662	CAGAG	C	PSMD12	c.146_149del	NM_002816.3	NP_002807.1:p.(Ser49TrpfsTer18)	NC_000017.10:g.65353659_65353662del	(Likely) pathogenic	1 lab	f2e1089f05
5:176721850 NSD1 GC>G	5	176721850	176721851	GC	G	NSD1	c.7482del	NM_022455.5	NP_071900.2:p.(Ser2494ArgfsTer84)	NC_000005.9:g.176721851del	(Likely) pathogenic	1 lab	f2e284acc2
11:61725957 BEST1 G>A	11	61725957	61725957	G	A	BEST1				NC_000011.9:g.61725957G>A	VUS	1 lab	f2e4fad7b9
8:61736580 CHD7 G>C	8	61736580	61736580	G	C	CHD7				NC_000008.10:g.61736580G>C	(Likely) pathogenic	1 lab	f2e8b6ede0
12:114792953 TBX5 A>G	12	114792953	114792953	A	G	TBX5	c.*384T>C	NM_000192.3	NP_000183.2:p.?	NC_000012.11:g.114792953A>G	(Likely) benign	1 lab	f2ea9ca7b7
10:26465734 MYO3A G>T	10	26465734	26465734	G	T	MYO3A	c.4398G>T	NM_017433.4	NP_059129.3:p.(Lys1466Asn)	NC_000010.10:g.26465734G>T	VUS	1 lab	f2ebfa82d7
X:54492001 FGD1 G>C	X	54492001	54492001	G	C	FGD1	c.1519C>G	NM_004463.2	NP_004454.2:p.(Leu507Val)	NC_000023.10:g.54492001G>C	(Likely) pathogenic	1 lab	f2ed2f40d8
X:153580368 FLNA C>T	X	153580368	153580368	C	T	FLNA	c.6767G>A	NM_001456.3	NP_001447.2:p.(Arg2256Gln)	NC_000023.10:g.153580368C>T	VUS	1 lab	f2eec491a6
12:57324249 SDR9C7 G>T	12	57324249	57324249	G	T	SDR9C7	c.321C>A	NM_148897.3	NP_683695.1:p.(Asn107Lys)	NC_000012.11:g.57324249G>T	(Likely) pathogenic	1 lab	f2f04870fb
16:30199539 CORO1A G>A	16	30199539	30199539	G	A	CORO1A				NC_000016.9:g.30199539G>A	VUS	1 lab	f2f0ea5a35
10:73466709 CDH23 T>C	10	73466709	73466709	T	C	CDH23	c.3009T>C	NM_022124.5	NP_071407.4:p.(Ser1003=)	NC_000010.10:g.73466709T>C	(Likely) benign	1 lab	f2f167a318
14:77493644 IRF2BPL CGCAGCGGCGGCGGCG>C	14	77493644	77493661	CGCAGCGGCGGCGGCG	C	IRF2BPL	c.477_491del	NM_024496.4	NP_078772.1:p.(Ala160_Ala164del)	NC_000014.8:g.77493647_77493661del	VUS	1 lab	1715166358
2:179531557 TTN G>C	2	179531557	179531557	G	C	TTN	c.35869C>G	NM_001267550.2	NP_001254479.2:p.(Pro11957Ala)	NC_000002.11:g.179531557G>C	(Likely) benign	1 lab	f2f2ca5900
6:6152140 F13A1 C>T	6	6152140	6152140	C	T	F13A1	c.1951G>A	NM_000129.3	NP_000120.2:p.(Val651Ile)	NC_000006.11:g.6152140C>T	(Likely) benign	1 lab	f2f4539c3a
6:51491884 PKHD1 T>C	6	51491884	51491884	T	C	PKHD1	c.11696A>G	NM_138694.4	NP_619639.3:p.(Gln3899Arg)	NC_000006.11:g.51491884T>C	(Likely) benign	1 lab	1715966a1d
1:16378215 CLCNKB C>T	1	16378215	16378215	C	T	CLCNKB				NC_000001.10:g.16378215C>T	(Likely) benign	1 lab	f2fa256883
2:179569035 TTN C>T	2	179569035	179569035	C	T	TTN	c.30062G>A	NM_001267550.2	NP_001254479.2:p.(Trp10021Ter)	NC_000002.11:g.179569035C>T	VUS	1 lab	f2fa427aad
X:153609367 EMD C>T	X	153609367	153609367	C	T	EMD	c.575C>T	NM_000117.2	NP_000108.1:p.(Ser192Phe)	NC_000023.10:g.153609367C>T	VUS	1 lab	f2fe445627
19:48643250 LIG1 G>C	19	48643250	48643250	G	C	LIG1	c.1062C>G	NM_001320970.2	NP_001307899.1:p.(Leu354=)	NC_000019.9:g.48643250G>C	(Likely) benign	1 lab	1853571dd6
12:44162031 IRAK4 T>A	12	44162031	44162031	T	A	IRAK4	c.117T>A	NM_016123.3	NP_057207.2:p.(Ile39=)	NC_000012.11:g.44162031T>A	(Likely) benign	1 lab	18540d3964
2:54880879 SPTBN1 G>A	2	54880879	54880879	G	A	SPTBN1	c.5711G>A	NM_003128.3	NP_003119.2:p.(Arg1904Lys)	NC_000002.11:g.54880879G>A	VUS	1 lab	f3013fa81d
X:138630531 F9 G>A	X	138630531	138630531	G	A	F9	c.401G>A	NM_000133.3	NP_000124.1:p.(Cys134Tyr)	NC_000023.10:g.138630531G>A	(Likely) pathogenic	1 lab	f3028e6657
2:170139413 LRP2 G>A	2	170139413	170139413	G	A	LRP2	c.1141C>T	NM_004525.3	NP_004516.2:p.(Arg381Cys)	NC_000002.11:g.170139413G>A	VUS	1 lab	f303aef2e9
X:69719741 DLG3 C>T	X	69719741	69719741	C	T	DLG3	c.1987C>T	NM_021120.3	NP_066943.2:p.(Arg663Ter)	NC_000023.10:g.69719741C>T	(Likely) pathogenic	1 lab	f30453fc1b
3:38671859 SCN5A T>C	3	38671859	38671859	T	C	SCN5A	c.335A>G	NM_198056.3	NP_932173.1:p.(Tyr112Cys)	NC_000003.11:g.38671859T>C	VUS	1 lab	f30592dd0c
22:42608815 TCF20 G>A	22	42608815	42608815	G	A	TCF20	c.2497C>T	NM_005650.1	NP_005641.1:p.(Gln833Ter)	NC_000022.10:g.42608815G>A	(Likely) pathogenic	1 lab	f306262e79
X:39932165 BCOR C>A	X	39932165	39932165	C	A	BCOR	c.2434G>T	NM_001123385.1	NP_001116857.1:p.(Glu812Ter)	NC_000023.10:g.39932165C>A	(Likely) pathogenic	1 lab	f307dd2d98
X:31854956 DMD T>C	X	31854956	31854956	T	C	DMD	c.-282-20A>G	NM_004013.3	NP_004004.2:p.?	NC_000023.10:g.31854956T>C	(Likely) benign	1 lab	171c9bdba8
22:42610917 TCF20 C>T	22	42610917	42610917	C	T	TCF20	c.395G>A	NM_005650.4	NP_005641.1:p.(Ser132Asn)	NC_000022.10:g.42610917C>T	VUS	1 lab	171e2c361e
18:29175091 TTR G>A	18	29175091	29175091	G	A	TTR	c.209G>A	NM_000371.3	NP_000362.1:p.(Ser70Asn)	NC_000018.9:g.29175091G>A	(Likely) benign	1 lab	f309024bb7
16:23652480 PALB2 G>A	16	23652480	23652480	G	A	PALB2	c.-2C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23652480G>A	VUS	1 lab	f30aaf1807
9:35657757 RMRP C>A	9	35657757	35657757	C	A	RMRP	n.259G>T	NR_003051.3		NC_000009.11:g.35657757C>A	VUS	1 lab	1722262cb1
17:21318772 KCNJ12 C>T	17	21318772	21318772	C	T	KCNJ12	c.118C>T	NM_021012.4	NP_066292.2:p.(Arg40Cys)	NC_000017.10:g.21318772C>T	VUS	1 lab	f313b9fa6f
15:89876591 POLG C>T	15	89876591	89876591	C	T	POLG	c.395G>A	NM_002693.3	NP_002684.1:p.(Gly132Glu)	NC_000015.9:g.89876591C>T	VUS	1 lab	f31a2a07b9
2:106015460 FHL2 G>T	2	106015460	106015460	G	T	FHL2	c.-358C>A	NM_201555.1	NP_963849.1:p.?	NC_000002.11:g.106015460G>T	(Likely) benign	1 lab	f31cea3604
9:98220508 PTCH1 TGA>T	9	98220508	98220511	TGA	T	PTCH1	c.2953_2954del	NM_000264.3	NP_000255.2:p.(Ser985ArgfsTer7)	NC_000009.11:g.98220510_98220511del	(Likely) pathogenic	1 lab	f31e2e44e3
2:99006159 CNGA3 C>T	2	99006159	99006159	C	T	CNGA3	c.488C>T	NM_001298.2	NP_001289.1:p.(Pro163Leu)	NC_000002.11:g.99006159C>T	(Likely) pathogenic	1 lab	f3205a608b
11:108150269 ATM T>A	11	108150269	108150269	T	A	ATM	c.3336T>A	NM_000051.3	NP_000042.3:p.(Pro1112=)	NC_000011.9:g.108150269T>A	(Likely) benign	1 lab	f322e5c609
5:137203640 MYOT C>T	5	137203640	137203640	C	T	MYOT	c.-214C>T	NM_006790.2	NP_006781.1:p.?	NC_000005.9:g.137203640C>T	VUS	1 lab	f324fcd2a7
8:61735218 CHD7 G>A	8	61735218	61735218	G	A	CHD7				NC_000008.10:g.61735218G>A	(Likely) pathogenic	1 lab	f325293503
17:39925886 JUP C>T	17	39925886	39925886	C	T	JUP	c.252G>A	NM_002230.4	NP_002221.1:p.(Arg84=)	NC_000017.10:g.39925886C>T	(Likely) benign	1 lab	f326af1b3d
12:9002260 A2ML1 A>C	12	9002260	9002260	A	C	A2ML1	c.2029-5A>C	NM_144670.4	NP_653271.2:p.?	NC_000012.11:g.9002260A>C	(Likely) benign	1 lab	f32826267e
20:61048564 GATA5 C>A	20	61048564	61048564	C	A	GATA5	c.594G>T	NM_080473.4	NP_536721.1:p.(Pro198=)	NC_000020.10:g.61048564C>A	(Likely) benign	1 lab	f32af26a39
5:142783013 NR3C1 A>G	5	142783013	142783013	A	G	NR3C1	c.-251T>C	NM_000176.2	NP_000167.1:p.?	NC_000005.9:g.142783013A>G	(Likely) benign	1 lab	f32f7d1e8d
11:2593977 KCNQ1 A>G	11	2593977	2593977	A	G	KCNQ1	c.781-99A>G	NM_000218.2	NP_000209.2:p.?	NC_000011.9:g.2593977A>G	(Likely) benign	1 lab	f3362f603f
4:155489611 FGB A>G	4	155489611	155489611	A	G	FGB	c.797A>G	NM_005141.5	NP_005132.2:p.(Tyr266Cys)	NC_000004.11:g.155489611A>G	VUS	1 lab	f33c63d04b
18:2697874 SMCHD1 A>G	18	2697874	2697874	A	G	SMCHD1	c.1177A>G	NM_015295.2	NP_056110.2:p.(Arg393Gly)	NC_000018.9:g.2697874A>G	VUS	1 lab	f33cf6abab
1:74818960 TNNI3K T>C	1	74818960	74818960	T	C	TNNI3K	c.943T>C	NM_015978.3	NP_057062.1:p.(Tyr315His)	NC_000001.10:g.74818960T>C	VUS	1 lab	f33ff28cc0
3:38752339 SCN10A C>T	3	38752339	38752339	C	T	SCN10A	c.4139G>A	NM_006514.3	NP_006505.3:p.(Arg1380Gln)	NC_000003.11:g.38752339C>T	VUS	1 lab	f3476fef2f
1:236907906 ACTN2 T>C	1	236907906	236907906	T	C	ACTN2	c.1256-20T>C	NM_001103.3	NP_001094.1:p.?	NC_000001.10:g.236907906T>C	(Likely) benign	1 lab	185b484830
15:34634319 NOP10 G>T	15	34634319	34634319	G	T	NOP10	c.55-10C>A	NM_018648.3	NP_061118.1:p.?	NC_000015.9:g.34634319G>T	(Likely) benign	1 lab	185c59c018
20:10265384 SNAP25 G>C	20	10265384	10265384	G	C	SNAP25	c.127G>C	NM_003081.4	NP_003072.2:p.(Gly43Arg)	NC_000020.10:g.10265384G>C	VUS	1 lab	f34f9109d4
12:116445448 MED13L G>C	12	116445448	116445448	G	C	MED13L	c.2013-7C>G	NM_015335.4	NP_056150.1:p.?	NC_000012.11:g.116445448G>C	(Likely) benign	1 lab	f350933ea5
1:235577753 TBCE C>T	1	235577753	235577753	C	T	TBCE	c.191C>T	NM_001079515.2	NP_001072983.1:p.(Pro64Leu)	NC_000001.10:g.235577753C>T	(Likely) benign	1 lab	185d251f20
X:153699838 MISSING C>T	X	153699838	153699838	C	T	MISSING				NC_000023.10:g.153699838C>T	VUS	1 lab	f359f3054e
16:89351705 ANKRD11 G>A	16	89351705	89351705	G	A	ANKRD11	c.1245C>T	NM_001256182.1	NP_001243111.1:p.(Asp415=)	NC_000016.9:g.89351705G>A	(Likely) benign	1 lab	f35a20d025
2:48027313 MSH6 C>T	2	48027313	48027313	C	T	MSH6	c.2191C>T	NM_000179.2	NP_000170.1:p.(Gln731Ter)	NC_000002.11:g.48027313C>T	(Likely) pathogenic	1 lab	f35fa83032
1:237817655 RYR2 G>A	1	237817655	237817655	G	A	RYR2	c.7906G>A	NM_001035.2	NP_001026.2:p.(Glu2636Lys)	NC_000001.10:g.237817655G>A	(Likely) pathogenic	1 lab	f361ee7395
13:35733388 NBEA TA>T	13	35733388	35733389	TA	T	NBEA	c.3081del	NM_015678.4	NP_056493.3:p.(Leu1027PhefsTer30)	NC_000013.10:g.35733389del	(Likely) pathogenic	1 lab	f3625bf6c2
17:41248006 BRCA1 C>A	17	41248006	41248006	C	A	BRCA1	c.594-67G>T	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41248006C>A	(Likely) benign	1 lab	f36644b4c7
12:52164331 SCN8A A>G	12	52164331	52164331	A	G	SCN8A	c.3509A>G	NM_014191.3	NP_055006.1:p.(Lys1170Arg)	NC_000012.11:g.52164331A>G	VUS	1 lab	f367b1f2a2
2:227892710 COL4A4 G>A	2	227892710	227892710	G	A	COL4A4	c.3989C>T	NM_000092.5	NP_000083.3:p.(Pro1330Leu)	NC_000002.11:g.227892710G>A	(Likely) benign	1 lab	f367ceb559
16:23392082 SCNN1B T>A	16	23392082	23392082	T	A	SCNN1B	c.1883T>A	NM_000336.2	NP_000327.2:p.(Leu628Gln)	NC_000016.9:g.23392082T>A	(Likely) benign	1 lab	f36cffcf8e
8:27320830 CHRNA2 C>T	8	27320830	27320830	C	T	CHRNA2	c.1130G>A	NM_000742.4	NP_000733.2:p.(Trp377Ter)	NC_000008.10:g.27320830C>T	VUS	1 lab	f3715cf406
16:86601435 FOXC2 G>C	16	86601435	86601435	G	C	FOXC2	c.494G>C	NM_005251.2	NP_005242.1:p.(Arg165Pro)	NC_000016.9:g.86601435G>C	VUS	1 lab	f371b1528d
4:84188852 COQ2 T>G	4	84188852	84188852	T	G	COQ2	c.988A>C	NM_015697.7	NP_056512.5:p.(Ser330Arg)	NC_000004.11:g.84188852T>G	(Likely) benign	1 lab	f375c138a4
21:46321659 ITGB2 C>A	21	46321659	46321659	C	A	ITGB2	c.500-11G>T	NM_000211.4	NP_000202.3:p.?	NC_000021.8:g.46321659C>A	(Likely) benign	1 lab	f375c4a047
8:55542540 RP1 G>A	8	55542540	55542540	G	A	RP1	c.6098G>A	NM_006269.1	NP_006260.1:p.(Cys2033Tyr)	NC_000008.10:g.55542540G>A	(Likely) benign	1 lab	f37bdd4d73
20:60898669 LAMA5 G>A	20	60898669	60898669	G	A	LAMA5	c.5907C>T	NM_005560.4	NP_005551.3:p.(Cys1969=)	NC_000020.10:g.60898669G>A	(Likely) benign	1 lab	18647a8e62
2:179470381 TTN G>A	2	179470381	179470381	G	A	TTN	c.53641C>T	NM_001267550.2	NP_001254479.2:p.(Leu17881Phe)	NC_000002.11:g.179470381G>A	(Likely) benign	1 lab	f38376d1fd
2:219679482 CYP27A1 T>C	2	219679482	219679482	T	C	CYP27A1	c.1476+2T>C	NM_000784.3	NP_000775.1:p.?	NC_000002.11:g.219679482T>C	(Likely) pathogenic	1 lab	f3841c902a
1:197398589 CRB1 G>A	1	197398589	197398589	G	A	CRB1	c.2687G>A	NM_201253.2	NP_957705.1:p.(Cys896Tyr)	NC_000001.10:g.197398589G>A	VUS	1 lab	f38431976b
14:64685165 SYNE2 G>A	14	64685165	64685165	G	A	SYNE2	c.19592G>A	NM_182914.2	NP_878918.2:p.(Arg6531Gln)	NC_000014.8:g.64685165G>A	VUS	1 lab	f38a99a4ad
19:47349359 AP2S1 C>T	19	47349359	47349359	C	T	AP2S1	c.44G>A	NM_004069.4	NP_004060.2:p.(Arg15His)	NC_000019.9:g.47349359C>T	(Likely) pathogenic	1 lab	f38cc29984
3:48617068 COL7A1 G>A	3	48617068	48617068	G	A	COL7A1	c.5188C>T	NM_000094.3	NP_000085.1:p.(Arg1730Ter)	NC_000003.11:g.48617068G>A	(Likely) pathogenic	1 lab	f393763583
5:53752007 HSPB3 T>C	5	53752007	53752007	T	C	HSPB3	c.388T>C	NM_006308.2	NP_006299.1:p.(Ser130Pro)	NC_000005.9:g.53752007T>C	VUS	1 lab	f39799ed88
12:111351964 MYL2 A>AAC	12	111351964	111351965	A	AAC	MYL2	c.274+25_274+26insGT	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351964_111351965insAC	(Likely) benign	1 lab	f3996e96da
21:43808612 TMPRSS3 C>T	21	43808612	43808612	C	T	TMPRSS3	c.346G>A	NM_024022.4	NP_076927.1:p.(Val116Met)	NC_000021.8:g.43808612C>T	(Likely) pathogenic	1 lab	f39db39485
14:23891496 MYH7 C>T	14	23891496	23891496	C	T	MYH7	c.3138G>A	NM_000257.3	NP_000248.2:p.(Met1046Ile)	NC_000014.8:g.23891496C>T	VUS	1 lab	f39fd20391
18:12353038 AFG3L2 C>A	18	12353038	12353038	C	A	AFG3L2	c.1284G>T	NM_006796.3	NP_006787.2:p.(Glu428Asp)	NC_000018.9:g.12353038C>A	VUS	1 lab	1734c11666
9:116857353 KIF12 G>A	9	116857353	116857353	G	A	KIF12	c.655C>T	NM_138424.2	NP_612433.1:p.(Arg219Ter)	NC_000009.11:g.116857353G>A	(Likely) pathogenic	1 lab	f3a1caf8dd
10:121411102 BAG3 G>A	10	121411102	121411102	G	A	BAG3	c.-86G>A	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121411102G>A	(Likely) benign	1 lab	f3a421df36
11:17409079 KCNJ11 G>A	11	17409079	17409079	G	A	KCNJ11	c.560C>T	NM_000525.3	NP_000516.3:p.(Ala187Val)	NC_000011.9:g.17409079G>A	VUS	1 lab	f3a570bb12
21:47404385 COL6A1 T>G	21	47404385	47404385	T	G	COL6A1	c.428+2T>G	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47404385T>G	(Likely) pathogenic	1 lab	f3a764defb
19:13409673 CACNA1A G>A	19	13409673	13409673	G	A	CACNA1A	c.2777C>T	NM_001127221.1	NP_001120693.1:p.(Ala926Val)	NC_000019.9:g.13409673G>A	(Likely) benign	1 lab	f3a767eb12
3:58112400 FLNB A>G	3	58112400	58112400	A	G	FLNB	c.4133A>G	NM_001457.3	NP_001448.2:p.(Asn1378Ser)	NC_000003.11:g.58112400A>G	VUS	1 lab	f3ab51167c
2:220285100 DES G>A	2	220285100	220285100	G	A	DES	c.735+32G>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220285100G>A	(Likely) benign	1 lab	f3ae7df0e6
1:196658711 CFH C>T	1	196658711	196658711	C	T	CFH	c.1126C>T	NM_000186.3	NP_000177.2:p.(Gln376Ter)	NC_000001.10:g.196658711C>T	(Likely) pathogenic	1 lab	f3af3343e0
13:113798271 F10 T>A	13	113798271	113798271	T	A	F10	c.609T>A	NM_000504.3	NP_000495.1:p.(Tyr203Ter)	NC_000013.10:g.113798271T>A	(Likely) pathogenic	1 lab	f3b0c38086
X:41047363 USP9X A>G	X	41047363	41047363	A	G	USP9X	c.3803A>G	NM_001039590.2	NP_001034679.2:p.(Tyr1268Cys)	NC_000023.10:g.41047363A>G	VUS	1 lab	f3b1a55a7f
2:197143349 HECW2 A>C	2	197143349	197143349	A	C	HECW2	c.3038T>G	NM_001348768.2	NP_001335697.1:p.(Phe1013Cys)	NC_000002.11:g.197143349A>C	VUS	1 lab	f3b1e99170
5:151208495 GLRA1 C>A	5	151208495	151208495	C	A	GLRA1	c.1046G>T	NM_001146040.1	NP_001139512.1:p.(Arg349Leu)	NC_000005.9:g.151208495C>A	VUS	1 lab	f3b1ee8dfe
4:140291370 NAA15 A>G	4	140291370	140291370	A	G	NAA15	c.1759A>G	NM_057175.5	NP_476516.1:p.(Met587Val)	NC_000004.11:g.140291370A>G	VUS	1 lab	17355ff26a
7:4823971 AP5Z1 C>T	7	4823971	4823971	C	T	AP5Z1				NC_000007.13:g.4823971C>T	(Likely) benign	1 lab	f3b52fe520
X:62875372 ARHGEF9 A>G	X	62875372	62875372	A	G	ARHGEF9	c.1300+2T>C	NM_015185.2	NP_056000.1:p.?	NC_000023.10:g.62875372A>G	(Likely) pathogenic	1 lab	f3b9aa03c9
1:156105991 LMNA C>T	1	156105991	156105991	C	T	LMNA	c.1158-14C>T	NM_170707.3	NP_733821.1:p.?	NC_000001.10:g.156105991C>T	(Likely) benign	1 lab	f3bb69edd6
15:67479469 SMAD3 G>A	15	67479469	67479469	G	A	SMAD3	c.1010-234G>A	NM_005902.4	NP_005893.1:p.?	NC_000015.9:g.67479469G>A	VUS	1 lab	17356035d3
9:136307825 ADAMTS13 C>T	9	136307825	136307825	C	T	ADAMTS13	c.2195C>T	NM_139027.6	NP_620596.2:p.(Ala732Val)	NC_000009.11:g.136307825C>T	(Likely) benign	1 lab	f3bbbd5334
14:68264470 ZFYVE26 C>T	14	68264470	68264470	C	T	ZFYVE26	c.2251G>A	NM_015346.4	NP_056161.2:p.(Glu751Lys)	NC_000014.8:g.68264470C>T	VUS	1 lab	173d5dafb7
2:167330730 SCN7A G>T	2	167330730	167330730	G	T	SCN7A	c.353+6C>A	NM_002976.3	NP_002967.2:p.?	NC_000002.11:g.167330730G>T	(Likely) benign	1 lab	f3c4b2cdd4
13:32937309 BRCA2 C>G	13	32937309	32937309	C	G	BRCA2	c.7977-7C>G	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32937309C>G	VUS	1 lab	186caa164e
13:73357758 PIBF1 A>G	13	73357758	73357758	A	G	PIBF1	c.151A>G	NM_006346.3	NP_006337.2:p.(Ile51Val)	NC_000013.10:g.73357758A>G	(Likely) benign	1 lab	1870e7d2a3
X:153215741 HCFC1 C>T	X	153215741	153215741	C	T	HCFC1				NC_000023.10:g.153215741C>T	VUS	1 lab	f3eb5f64bc
11:102985939 DYNC2H1 G>A	11	102985939	102985939	G	A	DYNC2H1	c.536G>A	NM_001080463.1	NP_001073932.1:p.(Trp179Ter)	NC_000011.9:g.102985939G>A	(Likely) pathogenic	1 lab	f3cb885f55
6:152443800 SYNE1 C>T	6	152443800	152443800	C	T	SYNE1	c.26165G>A	NM_182961.4	NP_892006.3:p.(Gly8722Asp)	NC_000006.11:g.152443800C>T	VUS	1 lab	173fca5afb
4:5624705 EVC2 C>T	4	5624705	5624705	C	T	EVC2	c.2060G>A	NM_147127.5	NP_667338.3:p.(Arg687His)	NC_000004.11:g.5624705C>T	VUS	1 lab	1741b996b5
7:83034815 SEMA3E T>A	7	83034815	83034815	T	A	SEMA3E	c.949A>T	NM_012431.3	NP_036563.1:p.(Thr317Ser)	NC_000007.13:g.83034815T>A	(Likely) benign	1 lab	17438b6622
3:4508742 SUMF1 C>T	3	4508742	4508742	C	T	SUMF1	c.188G>A	NM_182760.3	NP_877437.2:p.(Ser63Asn)	NC_000003.11:g.4508742C>T	(Likely) benign	1 lab	f3d51084c7
5:74696043 COL4A3BP C>G	5	74696043	74696043	C	G	COL4A3BP				NC_000005.9:g.74696043C>G	VUS	1 lab	f3d680a231
8:41906054 KAT6A G>A	8	41906054	41906054	G	A	KAT6A	c.442C>T	NM_006766.5	NP_006757.2:p.(Arg148Ter)	NC_000008.10:g.41906054G>A	VUS	1 lab	1876a946e3
16:23641287 PALB2 T>C	16	23641287	23641287	T	C	PALB2	c.2188A>G	NM_024675.4	NP_078951.2:p.(Ile730Val)	NC_000016.9:g.23641287T>C	VUS	1 lab	f3db248dd1
X:70387388 NLGN3 C>T	X	70387388	70387388	C	T	NLGN3	c.1441C>T	NM_181303.2	NP_851820.1:p.(His481Tyr)	NC_000023.10:g.70387388C>T	VUS	1 lab	1743bb3a38
22:32229892 DEPDC5 T>C	22	32229892	32229892	T	C	DEPDC5	c.2105-9T>C	NM_001242896.1	NP_001229825.1:p.?	NC_000022.10:g.32229892T>C	VUS	1 lab	f3e05a9dbe
X:122820467 THOC2 T>G	X	122820467	122820467	T	G	THOC2				NC_000023.10:g.122820467T>G	(Likely) benign	1 lab	f3e6f9f25b
1:158656367 SPTA1 A>G	1	158656367	158656367	A	G	SPTA1	c.-60T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158656367A>G	(Likely) benign	1 lab	cdedaae0b5
11:121039453 TECTA G>A	11	121039453	121039453	G	A	TECTA				NC_000011.9:g.121039453G>A	VUS	1 lab	f3e8be87a2
10:112343990 SMC3 C>T	10	112343990	112343990	C	T	SMC3	c.1141C>T	NM_005445.4	NP_005436.1:p.(Arg381Ter)	NC_000010.10:g.112343990C>T	(Likely) pathogenic	1 lab	f3ea914236
2:202501569 TMEM237 C>T	2	202501569	202501569	C	T	TMEM237	c.176G>A	NM_001044385.3	NP_001037850.1:p.(Arg59Gln)	NC_000002.11:g.202501569C>T	(Likely) benign	1 lab	187bbf1290
8:38272144 FGFR1 G>A	8	38272144	38272144	G	A	FGFR1	c.2074C>T	NM_001174067.1	NP_001167538.1:p.(Arg692Ter)	NC_000008.10:g.38272144G>A	(Likely) pathogenic	1 lab	f3efd89680
3:37048624 MLH1 A>G	3	37048624	37048624	A	G	MLH1	c.453+70A>G	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37048624A>G	(Likely) benign	1 lab	f3f032806f
2:47639608 MSH2 CA>C	2	47639608	47639612	CA	C	MSH2	c.705del	NM_000251.3	NP_000242.1:p.(Asp236ThrfsTer10)	NC_000002.11:g.47639612del	(Likely) pathogenic	1 lab	f3f213f46d
22:37466675 TMPRSS6 G>A	22	37466675	37466675	G	A	TMPRSS6	c.1717C>T	NM_153609.3	NP_705837.1:p.(Pro573Ser)	NC_000022.10:g.37466675G>A	VUS	1 lab	f3f4d4031c
3:38913124 SCN11A C>T	3	38913124	38913124	C	T	SCN11A	c.3571G>A	NM_014139.2	NP_054858.2:p.(Val1191Ile)	NC_000003.11:g.38913124C>T	(Likely) benign	1 lab	f3f700465d
X:41027455 USP9X A>G	X	41027455	41027455	A	G	USP9X	c.2620A>G	NM_001039590.2	NP_001034679.2:p.(Ile874Val)	NC_000023.10:g.41027455A>G	VUS	1 lab	f3fc2fa4f5
3:38945517 SCN11A G>A	3	38945517	38945517	G	A	SCN11A	c.1681C>T	NM_001349253.2	NP_001336182.1:p.(Pro561Ser)	NC_000003.11:g.38945517G>A	(Likely) benign	1 lab	f401c85e26
2:2334877 MYT1L A>G	2	2334877	2334877	A	G	MYT1L	c.-659T>C	NM_015025.2	NP_055840.2:p.?	NC_000002.11:g.2334877A>G	(Likely) benign	1 lab	f4036b7369
10:126090372 OAT T>C	10	126090372	126090372	T	C	OAT	c.937A>G	NM_000274.4	NP_000265.1:p.(Thr313Ala)	NC_000010.10:g.126090372T>C	VUS	1 lab	f44b448000
2:165948891 SCN3A C>A	2	165948891	165948891	C	A	SCN3A	c.4680G>T	NM_006922.3	NP_008853.3:p.(Arg1560=)	NC_000002.11:g.165948891C>A	(Likely) benign	1 lab	f403cf03d2
3:38892038 SCN11A T>A	3	38892038	38892038	T	A	SCN11A	c.4261A>T	NM_014139.2	NP_054858.2:p.(Arg1421Trp)	NC_000003.11:g.38892038T>A	VUS	1 lab	f405d39f6a
17:48272107 COL1A1 C>A	17	48272107	48272107	C	A	COL1A1	c.1436G>T	NM_000088.4	NP_000079.2:p.(Gly479Val)	NC_000017.10:g.48272107C>A	(Likely) pathogenic	1 lab	f4061894be
1:237969421 RYR2 C>T	1	237969421	237969421	C	T	RYR2	c.14152-16C>T	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237969421C>T	(Likely) benign	1 lab	17465f3a8c
11:822604 PNPLA2 CT>C	11	822604	822605	CT	C	PNPLA2	c.695del	NM_020376.4	NP_065109.1:p.(Leu232ArgfsTer24)	NC_000011.9:g.822605del	(Likely) pathogenic	1 lab	f41555cf20
15:77329472 PSTPIP1 C>T	15	77329472	77329472	C	T	PSTPIP1	c.1206C>T	NM_003978.3	NP_003969.2:p.(Asn402=)	NC_000015.9:g.77329472C>T	(Likely) benign	1 lab	1884696425
11:108173735 ATM A>G	11	108173735	108173735	A	G	ATM	c.5475A>G	NM_000051.3	NP_000042.3:p.(Gln1825=)	NC_000011.9:g.108173735A>G	(Likely) benign	1 lab	f427ec85ef
18:56033433 NEDD4L A>G	18	56033433	56033433	A	G	NEDD4L	c.2036A>G	NM_001144967.2	NP_001138439.1:p.(Tyr679Cys)	NC_000018.9:g.56033433A>G	(Likely) pathogenic	1 lab	f42a966ade
12:9004440 A2ML1 G>A	12	9004440	9004440	G	A	A2ML1	c.2295G>A	NM_144670.4	NP_653271.2:p.(Ala765=)	NC_000012.11:g.9004440G>A	(Likely) benign	1 lab	f42cdc7620
16:31475772 ARMC5 G>A	16	31475772	31475772	G	A	ARMC5	c.1428G>A	NM_001105247.1	NP_001098717.1:p.(Trp476Ter)	NC_000016.9:g.31475772G>A	(Likely) pathogenic	1 lab	f4316c2c84
19:45207536 CEACAM16 C>T	19	45207536	45207536	C	T	CEACAM16	c.631C>T	NM_001039213.3	NP_001034302.2:p.(Arg211Cys)	NC_000019.9:g.45207536C>T	VUS	1 lab	f4347522c8
3:9490304 SETD5 C>G	3	9490304	9490304	C	G	SETD5	c.2336C>G	NM_001080517.1	NP_001073986.1:p.(Ser779Cys)	NC_000003.11:g.9490304C>G	(Likely) benign	1 lab	f435a9e83e
11:64573208 MEN1 T>A	11	64573208	64573208	T	A	MEN1	c.1099A>T	NM_130803.2	NP_570715.1:p.(Lys367Ter)	NC_000011.9:g.64573208T>A	(Likely) pathogenic	1 lab	1888259b23
11:67817691 TCIRG1 C>T	11	67817691	67817691	C	T	TCIRG1	c.2206C>T	NM_006019.4	NP_006010.2:p.(Arg736Cys)	NC_000011.9:g.67817691C>T	(Likely) pathogenic	1 lab	f43a4c4380
19:50826702 KCNC3 G>T	19	50826702	50826702	G	T	KCNC3	c.1508C>A	NM_004977.3	NP_004968.2:p.(Thr503Asn)	NC_000019.9:g.50826702G>T	VUS	1 lab	f43aec60e1
9:138651588 KCNT1 C>G	9	138651588	138651588	C	G	KCNT1	c.918C>G	NM_020822.2	NP_065873.2:p.(Tyr306Ter)	NC_000009.11:g.138651588C>G	VUS	1 lab	f43e26bc60
19:39017631 RYR1 A>G	19	39017631	39017631	A	G	RYR1	c.10627-2A>G	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39017631A>G	(Likely) pathogenic	1 lab	f440e20a01
19:14037633 CC2D1A G>C	19	14037633	14037633	G	C	CC2D1A	c.2074-1G>C	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14037633G>C	(Likely) pathogenic	1 lab	f4428f635d
15:49059531 CEP152 C>T	15	49059531	49059531	C	T	CEP152	c.2147+1G>A	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49059531C>T	(Likely) pathogenic	1 lab	1888f35d1f
18:48573710 SMAD4 T>A	18	48573710	48573710	T	A	SMAD4	c.249+45T>A	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48573710T>A	(Likely) benign	1 lab	f444a74e88
17:4801970 CHRNE G>A	17	4801970	4801970	G	A	CHRNE	c.*61C>T	NM_000080.3	NP_000071.1:p.?	NC_000017.10:g.4801970G>A	(Likely) benign	1 lab	f49536bd37
2:198262724 SF3B1 A>G	2	198262724	198262724	A	G	SF3B1	c.3251T>C	NM_012433.2	NP_036565.2:p.(Ile1084Thr)	NC_000002.11:g.198262724A>G	VUS	1 lab	f444e6e5ff
7:5568193 ACTB G>A	7	5568193	5568193	G	A	ACTB	c.521C>T	NM_001101.5	NP_001092.1:p.(Ala174Val)	NC_000007.13:g.5568193G>A	(Likely) pathogenic	1 lab	f4467b5811
2:32361656 SPAST A>T	2	32361656	32361656	A	T	SPAST	c.1270A>T	NM_014946.3	NP_055761.2:p.(Arg424Trp)	NC_000002.11:g.32361656A>T	(Likely) pathogenic	1 lab	f44b0cc060
1:45795060 MUTYH C>T	1	45795060	45795060	C	T	MUTYH	c.1568G>A	NM_001128425.1	NP_001121897.1:p.(Arg523His)	NC_000001.10:g.45795060C>T	(Likely) benign	1 lab	f4509be31e
8:61713070 CHD7 C>T	8	61713070	61713070	C	T	CHD7				NC_000008.10:g.61713070C>T	(Likely) pathogenic	1 lab	f455c23f9e
2:191859919 STAT1 T>G	2	191859919	191859919	T	G	STAT1	c.812A>C	NM_007315.3	NP_009330.1:p.(Gln271Pro)	NC_000002.11:g.191859919T>G	(Likely) pathogenic	1 lab	f457c7d3c3
10:73537978 CDH23 C>T	10	73537978	73537978	C	T	CDH23	c.5100C>T	NM_022124.5	NP_071407.4:p.(Tyr1700=)	NC_000010.10:g.73537978C>T	(Likely) benign	1 lab	f4586bfde7
12:64868118 TBK1 G>A	12	64868118	64868118	G	A	TBK1	c.649G>A	NM_013254.4	NP_037386.1:p.(Gly217Arg)	NC_000012.11:g.64868118G>A	(Likely) pathogenic	1 lab	f459a59b48
7:6043317 PMS2 T>TTG	7	6043317	6043318	T	TTG	PMS2	c.353+3_353+4insCA	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043317_6043318insTG	(Likely) pathogenic	1 lab	f45b2e850c
7:91732039 AKAP9 G>A	7	91732039	91732039	G	A	AKAP9	c.11229G>A	NM_005751.4	NP_005742.4:p.(Met3743Ile)	NC_000007.13:g.91732039G>A	(Likely) benign	1 lab	f45b7dcbc6
1:156084858 LMNA G>A	1	156084858	156084858	G	A	LMNA	c.149G>A	NM_170707.4	NP_733821.1:p.(Arg50His)	NC_000001.10:g.156084858G>A	VUS	1 lab	f45b7e5929
X:44870222 KDM6A A>G	X	44870222	44870222	A	G	KDM6A	c.401A>G	NM_001291415.2	NP_001278344.1:p.(Tyr134Cys)	NC_000023.10:g.44870222A>G	VUS	1 lab	f45d4ece60
16:31496064 SLC5A2 C>T	16	31496064	31496064	C	T	SLC5A2	c.197C>T	NM_003041.3	NP_003032.1:p.(Pro66Leu)	NC_000016.9:g.31496064C>T	VUS	1 lab	f45e64725b
2:179479652 TTN G>T	2	179479652	179479652	G	T	TTN	c.48682C>A	NM_001267550.2	NP_001254479.2:p.(Arg16228Ser)	NC_000002.11:g.179479652G>T	VUS	1 lab	f45e8fa77a
5:14482758 TRIO G>T	5	14482758	14482758	G	T	TRIO	c.6533G>T	NM_007118.4	NP_009049.2:p.(Gly2178Val)	NC_000005.9:g.14482758G>T	VUS	1 lab	0391675be9
12:110252302 TRPV4 C>T	12	110252302	110252302	C	T	TRPV4	c.300G>A	NM_021625.4	NP_067638.3:p.(Lys100=)	NC_000012.11:g.110252302C>T	(Likely) benign	1 lab	f45f424642
X:31198486 DMD C>T	X	31198486	31198486	C	T	DMD	c.10086+1G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31198486C>T	(Likely) pathogenic	1 lab	05bbc64342
12:52162883 SCN8A G>A	12	52162883	52162883	G	A	SCN8A	c.3136G>A	NM_014191.3	NP_055006.1:p.(Ala1046Thr)	NC_000012.11:g.52162883G>A	VUS	1 lab	f4612294fc
3:122002546 CASR G>A	3	122002546	122002546	G	A	CASR	c.1745G>A	NM_000388.3	NP_000379.2:p.(Cys582Tyr)	NC_000003.11:g.122002546G>A	(Likely) pathogenic	1 lab	f465232f96
6:76538283 MYO6 A>G	6	76538283	76538283	A	G	MYO6	c.214A>G	NM_004999.3	NP_004990.3:p.(Thr72Ala)	NC_000006.11:g.76538283A>G	VUS	1 lab	f4654b04e2
11:123513293 SCN3B G>A	11	123513293	123513293	G	A	SCN3B	c.306C>T	NM_018400.3	NP_060870.1:p.(Asp102=)	NC_000011.9:g.123513293G>A	(Likely) benign	1 lab	f4675215cc
13:48523627 SUCLA2 G>A	13	48523627	48523627	G	A	SUCLA2	c.1219C>T	NM_003850.2	NP_003841.1:p.(Arg407Trp)	NC_000013.10:g.48523627G>A	VUS	1 lab	f467d25292
12:52307857 ACVRL1 G>C	12	52307857	52307857	G	C	ACVRL1	c.625G>C	NM_000020.2	NP_000011.2:p.(Gly209Arg)	NC_000012.11:g.52307857G>C	(Likely) pathogenic	1 lab	f468d22af5
1:115231254 AMPD1 G>A	1	115231254	115231254	G	A	AMPD1	c.242C>T	NM_000036.2	NP_000027.2:p.(Pro81Leu)	NC_000001.10:g.115231254G>A	(Likely) benign	1 lab	f46978b576
20:31022496 ASXL1 A>T	20	31022496	31022496	A	T	ASXL1	c.1981A>T	NM_015338.5	NP_056153.2:p.(Arg661Ter)	NC_000020.10:g.31022496A>T	(Likely) pathogenic	1 lab	f46a4b6e13
1:94467549 ABCA4 C>A	1	94467549	94467549	C	A	ABCA4	c.6148-1G>T	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94467549C>A	(Likely) pathogenic	1 lab	f471fcbd21
2:47710015 MSH2 T>C	2	47710015	47710015	T	C	MSH2	c.2732T>C	NM_000251.2	NP_000242.1:p.(Leu911Pro)	NC_000002.11:g.47710015T>C	VUS	1 lab	f4799b0875
11:67770481 UNC93B1 G>A	11	67770481	67770481	G	A	UNC93B1	c.392+11C>T	NM_030930.2	NP_112192.2:p.?	NC_000011.9:g.67770481G>A	(Likely) benign	1 lab	1889b71999
3:9985096 CRELD1 G>A	3	9985096	9985096	G	A	CRELD1	c.945G>A	NM_001031717.3	NP_001026887.1:p.(Pro315=)	NC_000003.11:g.9985096G>A	(Likely) benign	1 lab	f47e39c50e
X:107834390 COL4A5 G>T	X	107834390	107834390	G	T	COL4A5	c.1268G>T	NM_033380.2	NP_203699.1:p.(Gly423Val)	NC_000023.10:g.107834390G>T	(Likely) pathogenic	1 lab	f47f2b33b0
6:80223452 LCA5 C>T	6	80223452	80223452	C	T	LCA5	c.197G>A	NM_181714.3	NP_859065.2:p.(Arg66Gln)	NC_000006.11:g.80223452C>T	(Likely) benign	1 lab	f47f64ea1d
12:2763143 CACNA1C G>T	12	2763143	2763143	G	T	CACNA1C	c.4284+77G>T	NM_199460.3	NP_955630.3:p.?	NC_000012.11:g.2763143G>T	(Likely) benign	1 lab	f48018a69d
11:65422175 RELA G>A	11	65422175	65422175	G	A	RELA	c.1330C>T	NM_021975.4	NP_068810.3:p.(Gln444Ter)	NC_000011.9:g.65422175G>A	(Likely) pathogenic	1 lab	17510bcb2a
16:53670314 RPGRIP1L A>AT	16	53670314	53670317	A	AT	RPGRIP1L	c.3294+36dup	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53670317dup	(Likely) benign	1 lab	188ad4b720
14:64580063 SYNE2 C>T	14	64580063	64580063	C	T	SYNE2	c.12614C>T	NM_182914.2	NP_878918.2:p.(Thr4205Ile)	NC_000014.8:g.64580063C>T	(Likely) benign	1 lab	188ca3b3b3
17:29676171 NF1 GAACA>G	17	29676171	29676175	GAACA	G	NF1	c.7224_7227del	NM_001042492.3	NP_001035957.1:p.(Thr2409SerfsTer8)	NC_000017.10:g.29676172_29676175del	(Likely) pathogenic	1 lab	f4892406dd
2:179426737 TTN G>A	2	179426737	179426737	G	A	TTN	c.84122C>T	NM_001267550.2	NP_001254479.2:p.(Ala28041Val)	NC_000002.11:g.179426737G>A	(Likely) benign	1 lab	f489436314
2:179414758 TTN T>G	2	179414758	179414758	T	G	TTN	c.91807A>C	NM_001267550.2	NP_001254479.2:p.(Asn30603His)	NC_000002.11:g.179414758T>G	VUS	1 lab	f489af2688
5:149324153 PDE6A G>C	5	149324153	149324153	G	C	PDE6A	c.84C>G	NM_000440.2	NP_000431.2:p.(Tyr28Ter)	NC_000005.9:g.149324153G>C	(Likely) pathogenic	1 lab	f48a231b93
16:68862260 CDH1 G>A	16	68862260	68862260	G	A	CDH1	c.2295+53G>A	NM_004360.5	NP_004351.1:p.?	NC_000016.9:g.68862260G>A	(Likely) benign	1 lab	f48b118c60
12:110222190 TRPV4 C>T	12	110222190	110222190	C	T	TRPV4	c.2389G>A	NM_021625.4	NP_067638.3:p.(Glu797Lys)	NC_000012.11:g.110222190C>T	(Likely) pathogenic	1 lab	f48e75d315
2:179598429 TTN A>G	2	179598429	179598429	A	G	TTN	c.15687T>C	NM_001267550.2	NP_001254479.2:p.(Asp5229=)	NC_000002.11:g.179598429A>G	(Likely) benign	1 lab	f493f25731
3:53531171 CACNA1D C>T	3	53531171	53531171	C	T	CACNA1D	c.68-8C>T	NM_000720.3	NP_000711.1:p.?	NC_000003.11:g.53531171C>T	(Likely) benign	1 lab	f4958c4079
1:6511753 ESPN C>T	1	6511753	6511753	C	T	ESPN	c.2006C>T	NM_031475.2	NP_113663.2:p.(Pro669Leu)	NC_000001.10:g.6511753C>T	VUS	1 lab	f49759735e
17:18047189 MYO15A G>A	17	18047189	18047189	G	A	MYO15A	c.6052G>A	NM_016239.3	NP_057323.3:p.(Gly2018Arg)	NC_000017.10:g.18047189G>A	(Likely) benign	1 lab	f4a3dbaff2
12:44165145 IRAK4 C>T	12	44165145	44165145	C	T	IRAK4	c.284C>T	NM_001114182.2	NP_001107654.1:p.(Ala95Val)	NC_000012.11:g.44165145C>T	VUS	1 lab	f4a6406e4a
1:119965127 HSD3B2 C>T	1	119965127	119965127	C	T	HSD3B2	c.1003C>T	NM_000198.4	NP_000189.1:p.(Arg335Ter)	NC_000001.10:g.119965127C>T	(Likely) pathogenic	1 lab	f4a68720ae
2:215645431 BARD1 A>G	2	215645431	215645431	A	G	BARD1	c.1167T>C	NM_000465.4	NP_000456.2:p.(Ser389=)	NC_000002.11:g.215645431A>G	(Likely) benign	1 lab	f4a7559110
1:220375661 RAB3GAP2 C>T	1	220375661	220375661	C	T	RAB3GAP2	c.768G>A	NM_012414.3	NP_036546.2:p.(Trp256Ter)	NC_000001.10:g.220375661C>T	(Likely) pathogenic	1 lab	f4a85572ca
10:85960430 CDHR1 C>G	10	85960430	85960430	C	G	CDHR1	c.512C>G	NM_033100.3	NP_149091.1:p.(Thr171Ser)	NC_000010.10:g.85960430C>G	VUS	1 lab	f4a8a17064
9:130592005 ENG C>A	9	130592005	130592005	C	A	ENG	c.321G>T	NM_000118.3	NP_000109.1:p.(Leu107=)	NC_000009.11:g.130592005C>A	(Likely) benign	1 lab	18938541c1
12:52685096 KRT81 C>G	12	52685096	52685096	C	G	KRT81	c.154G>C	NM_002281.4	NP_002272.2:p.(Gly52Arg)	NC_000012.11:g.52685096C>G	(Likely) benign	1 lab	1754921cd1
17:7099876 DLG4 G>A	17	7099876	7099876	G	A	DLG4	c.1231C>T	NM_001365.3	NP_001356.1:p.(Arg411Ter)	NC_000017.10:g.7099876G>A	VUS	1 lab	f4afe820f3
12:32945077 PKP2 T>C	12	32945077	32945077	T	C	PKP2	c.*281A>G	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945077T>C	(Likely) benign	1 lab	f4b104090c
12:110024570 MVK C>G	12	110024570	110024570	C	G	MVK	c.643C>G	NM_000431.2	NP_000422.1:p.(Arg215Gly)	NC_000012.11:g.110024570C>G	VUS	1 lab	189b2730f0
1:236917314 ACTN2 A>G	1	236917314	236917314	A	G	ACTN2	c.1907A>G	NM_001103.2	NP_001094.1:p.(Glu636Gly)	NC_000001.10:g.236917314A>G	VUS	1 lab	f4d017f4f9
1:103488437 COL11A1 T>A	1	103488437	103488437	T	A	COL11A1	c.1106A>T	NM_001854.3	NP_001845.3:p.(Asp369Val)	NC_000001.10:g.103488437T>A	(Likely) benign	1 lab	f4b94fbbe6
2:228116016 COL4A3 T>A	2	228116016	228116016	T	A	COL4A3	c.610-36T>A	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228116016T>A	(Likely) benign	1 lab	f4bd073702
X:49854775 CLCN5 G>A	X	49854775	49854775	G	A	CLCN5	c.1747G>A	NM_001127898.4	NP_001121370.1:p.(Gly583Arg)	NC_000023.10:g.49854775G>A	(Likely) pathogenic	1 lab	f4c326a7b2
8:41547849 ANK1 G>A	8	41547849	41547849	G	A	ANK1	c.4000C>T	NM_000037.4	NP_000028.3:p.(Arg1334Ter)	NC_000008.10:g.41547849G>A	(Likely) pathogenic	1 lab	1757189d1d
17:7755543 KDM6B C>T	17	7755543	7755543	C	T	KDM6B	c.4357C>T	NM_001080424.2	NP_001073893.1:p.(Arg1453Cys)	NC_000017.10:g.7755543C>T	VUS	1 lab	f4c60dd0be
22:32211371 DEPDC5 CTTTT>C	22	32211371	32211393	CTTTT	C	DEPDC5	c.1666+192_1666+195del	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32211390_32211393del	(Likely) benign	1 lab	1759e37021
3:37083822 MLH1 G>A	3	37083822	37083822	G	A	MLH1	c.1731G>A	NM_000249.3	NP_000240.1:p.(Ser577=)	NC_000003.11:g.37083822G>A	(Likely) pathogenic	1 lab	f4c973206d
17:18052202 MYO15A C>T	17	18052202	18052202	C	T	MYO15A	c.6892C>T	NM_016239.3	NP_057323.3:p.(Arg2298Ter)	NC_000017.10:g.18052202C>T	(Likely) pathogenic	1 lab	f4c9ec9e2f
5:39126221 FYB1 G>A	5	39126221	39126221	G	A	FYB1	c.1924C>T	NM_001465.6	NP_001456.3:p.(Gln642Ter)	NC_000005.9:g.39126221G>A	(Likely) pathogenic	1 lab	f4cbfd16e8
8:30922510 WRN G>A	8	30922510	30922510	G	A	WRN	c.435G>A	NM_000553.4	NP_000544.2:p.(Trp145Ter)	NC_000008.10:g.30922510G>A	(Likely) pathogenic	1 lab	f4d23b3e76
9:140693346 EHMT1 C>T	9	140693346	140693346	C	T	EHMT1	c.2587C>T	NM_024757.4	NP_079033.4:p.(Gln863Ter)	NC_000009.11:g.140693346C>T	(Likely) pathogenic	1 lab	f4d275bd4e
17:41244620 BRCA1 G>T	17	41244620	41244620	G	T	BRCA1	c.2928C>A	NM_007294.3	NP_009225.1:p.(Asn976Lys)	NC_000017.10:g.41244620G>T	(Likely) benign	1 lab	f4d29c475b
3:50368133 RASSF1 A>G	3	50368133	50368133	A	G	RASSF1	c.914T>C	NM_170714.1	NP_733832.1:p.(Leu305Pro)	NC_000003.11:g.50368133A>G	VUS	1 lab	f4d3239035
18:29178599 TTR C>G	18	29178599	29178599	C	G	TTR	c.405C>G	NM_000371.4	NP_000362.1:p.(Ser135=)	NC_000018.9:g.29178599C>G	(Likely) benign	1 lab	f4d410d82f
2:165946804 SCN3A G>A	2	165946804	165946804	G	A	SCN3A	c.5859C>T	NM_006922.4	NP_008853.3:p.(Ser1953=)	NC_000002.11:g.165946804G>A	(Likely) benign	1 lab	f4d9fc02d5
10:89624245 PTEN G>T	10	89624245	89624245	G	T	PTEN	c.19G>T	NM_000314.4	NP_000305.3:p.(Glu7Ter)	NC_000010.10:g.89624245G>T	(Likely) pathogenic	1 lab	f4db2f4ea2
17:41251884 BRCA1 A>G	17	41251884	41251884	A	G	BRCA1	c.455T>C	NM_007294.4	NP_009225.1:p.(Leu152Pro)	NC_000017.10:g.41251884A>G	(Likely) benign	1 lab	f4dc325ff3
7:154681166 DPP6 G>GA	7	154681166	154681172	G	GA	DPP6	c.2197dup	NM_001936.5	NP_001927.3:p.(Ile733AsnfsTer15)	NC_000007.13:g.154681172dup	VUS	1 lab	175a8d7419
7:75684273 MDH2 G>A	7	75684273	75684273	G	A	MDH2	c.192G>A	NM_005918.4	NP_005909.2:p.(Val64=)	NC_000007.13:g.75684273G>A	(Likely) benign	1 lab	f4dfc7502d
19:38976359 RYR1 A>T	19	38976359	38976359	A	T	RYR1	c.5064A>T	NM_000540.2	NP_000531.2:p.(Val1688=)	NC_000019.9:g.38976359A>T	(Likely) benign	1 lab	f4e212123a
10:18828191 CACNB2 C>T	10	18828191	18828191	C	T	CACNB2				NC_000010.10:g.18828191C>T	(Likely) benign	1 lab	f4e26f662b
13:23778033 SGCG G>A	13	23778033	23778033	G	A	SGCG				NC_000013.10:g.23778033G>A	(Likely) pathogenic	1 lab	f4e3393f70
2:16082721 MYCN C>G	2	16082721	16082721	C	G	MYCN	c.535C>G	NM_005378.6	NP_005369.2:p.(Leu179Val)	NC_000002.11:g.16082721C>G	VUS	1 lab	175d90bf1a
2:128747252 SAP130 G>A	2	128747252	128747252	G	A	SAP130	c.1744C>T	NM_001145928.1	NP_001139400.1:p.(Gln582Ter)	NC_000002.11:g.128747252G>A	VUS	1 lab	f4e5fbfbc7
16:68716293 CDH3 G>A	16	68716293	68716293	G	A	CDH3	c.1085G>A	NM_001793.5	NP_001784.2:p.(Trp362Ter)	NC_000016.9:g.68716293G>A	(Likely) pathogenic	1 lab	f4e60941e3
X:70514185 NONO C>T	X	70514185	70514185	C	T	NONO				NC_000023.10:g.70514185C>T	(Likely) pathogenic	1 lab	f4e6749d12
21:45978180 TSPEAR G>C	21	45978180	45978180	G	C	TSPEAR	c.303+9489C>G	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.45978180G>C	(Likely) benign	1 lab	1765728a60
22:33255217 TIMP3 T>A	22	33255217	33255217	T	A	TIMP3	c.489T>A	NM_000362.4	NP_000353.1:p.(Cys163Ter)	NC_000022.10:g.33255217T>A	(Likely) pathogenic	1 lab	f4ed74ae91
1:161332186 SDHC T>C	1	161332186	161332186	T	C	SDHC	c.473T>C	NM_003001.3	NP_002992.1:p.(Leu158Pro)	NC_000001.10:g.161332186T>C	VUS	1 lab	f4eddf06d7
19:4550139 SEMA6B T>C	19	4550139	4550139	T	C	SEMA6B	c.1267A>G	NM_032108.4	NP_115484.2:p.(Met423Val)	NC_000019.9:g.4550139T>C	VUS	1 lab	176831b523
7:116411923 MET C>A	7	116411923	116411923	C	A	MET	c.2908C>A	NM_000245.3	NP_000236.2:p.(Arg970Ser)	NC_000007.13:g.116411923C>A	VUS	1 lab	f4f442d255
19:55668310 TNNI3 C>G	19	55668310	55668310	C	G	TNNI3	c.108+108G>C	NM_000363.4	NP_000354.4:p.?	NC_000019.9:g.55668310C>G	(Likely) benign	1 lab	f4f60e1cf7
13:32929166 BRCA2 A>T	13	32929166	32929166	A	T	BRCA2	c.7176A>T	NM_000059.4	NP_000050.3:p.(Lys2392Asn)	NC_000013.10:g.32929166A>T	(Likely) benign	1 lab	f4f75a8be4
12:6134810 VWF T>TG	12	6134810	6134811	T	TG	VWF	c.3157dup	NM_000552.3	NP_000543.2:p.(Gln1053ProfsTer9)	NC_000012.11:g.6134811dup	(Likely) pathogenic	1 lab	f4f7f3ede1
2:179639032 TTN C>T	2	179639032	179639032	C	T	TTN	c.6959G>A	NM_001267550.2	NP_001254479.2:p.(Arg2320His)	NC_000002.11:g.179639032C>T	VUS	1 lab	f4fac9a310
2:179482630 TTN CA>C	2	179482630	179482631	CA	C	TTN	c.47447del	NM_001267550.2	NP_001254479.2:p.(Leu15816ArgfsTer9)	NC_000002.11:g.179482631del	(Likely) pathogenic	1 lab	176ad3b86c
19:13366030 CACNA1A C>T	19	13366030	13366030	C	T	CACNA1A	c.4646G>A	NM_023035.3	NP_075461.2:p.(Arg1549Gln)	NC_000019.9:g.13366030C>T	VUS	1 lab	f4fd5dcba7
16:31499958 SLC5A2 T>C	16	31499958	31499958	T	C	SLC5A2	c.1145T>C	NM_003041.3	NP_003032.1:p.(Met382Thr)	NC_000016.9:g.31499958T>C	(Likely) pathogenic	1 lab	f500bbd04b
19:47492897 ARHGAP35 C>T	19	47492897	47492897	C	T	ARHGAP35	c.4001C>T	NM_004491.5	NP_004482.4:p.(Pro1334Leu)	NC_000019.9:g.47492897C>T	VUS	1 lab	f505cff921
1:229568819 ACTA1 C>T	1	229568819	229568819	C	T	ACTA1	c.44G>A	NM_001100.3	NP_001091.1:p.(Gly15Asp)	NC_000001.10:g.229568819C>T	(Likely) pathogenic	1 lab	f505e933c4
16:9858607 GRIN2A T>C	16	9858607	9858607	T	C	GRIN2A				NC_000016.9:g.9858607T>C	VUS	1 lab	f506205fd7
1:216051224 USH2A T>C	1	216051224	216051224	T	C	USH2A	c.8559-2A>G	NM_206933.2	NP_996816.2:p.?	NC_000001.10:g.216051224T>C	(Likely) pathogenic	1 lab	f5094d146e
20:443003 TBC1D20 C>T	20	443003	443003	C	T	TBC1D20	c.47G>A	NM_144628.3	NP_653229.1:p.(Trp16Ter)	NC_000020.10:g.443003C>T	(Likely) pathogenic	1 lab	f5094e9f4b
1:155207965 GBA1 C>T	1	155207965	155207965	C	T	GBA1	c.721G>A	NM_000157.3	NP_000148.2:p.(Gly241Arg)	NC_000001.10:g.155207965C>T	VUS	1 lab	f50a51e3f5
12:48379510 COL2A1 C>T	12	48379510	48379510	C	T	COL2A1	c.1680+1G>A	NM_001844.4	NP_001835.3:p.?	NC_000012.11:g.48379510C>T	(Likely) pathogenic	1 lab	f549ee0b6c
12:112910776 PTPN11 T>G	12	112910776	112910776	T	G	PTPN11	c.785T>G	NM_002834.5	NP_002825.3:p.(Leu262Arg)	NC_000012.11:g.112910776T>G	(Likely) pathogenic	1 lab	f50b91563e
13:32915264 BRCA2 G>A	13	32915264	32915264	G	A	BRCA2	c.6772G>A	NM_000059.3	NP_000050.2:p.(Glu2258Lys)	NC_000013.10:g.32915264G>A	(Likely) benign	1 lab	f511b303f2
7:75958970 YWHAG A>G	7	75958970	75958970	A	G	YWHAG	c.668T>C	NM_012479.3	NP_036611.2:p.(Met223Thr)	NC_000007.13:g.75958970A>G	VUS	1 lab	f51256dde7
14:23901971 MYH7 G>T	14	23901971	23901971	G	T	MYH7	c.379C>A	NM_000257.4	NP_000248.2:p.(Pro127Thr)	NC_000014.8:g.23901971G>T	VUS	1 lab	f5134f0c39
12:88513897 CEP290 GCTCT>G	12	88513897	88513903	GCTCT	G	CEP290	c.1512_1515del	NM_025114.4	NP_079390.3:p.(Arg504SerfsTer10)	NC_000012.11:g.88513900_88513903del	(Likely) pathogenic	1 lab	f5146eceef
1:225594365 LBR C>T	1	225594365	225594365	C	T	LBR	c.1483+1G>A	NM_002296.4	NP_002287.2:p.?	NC_000001.10:g.225594365C>T	(Likely) pathogenic	1 lab	f51507fe6c
6:138608205 ARFGEF3 C>G	6	138608205	138608205	C	G	ARFGEF3	c.2786-6C>G	NM_020340.5	NP_065073.3:p.?	NC_000006.11:g.138608205C>G	(Likely) benign	1 lab	1771dcd61d
15:74630944 CYP11A1 C>T	15	74630944	74630944	C	T	CYP11A1				NC_000015.9:g.74630944C>T	VUS	1 lab	f5170a14b0
6:51914959 PKHD1 C>T	6	51914959	51914959	C	T	PKHD1	c.2275G>A	NM_138694.3	NP_619639.3:p.(Ala759Thr)	NC_000006.11:g.51914959C>T	VUS	1 lab	f517a569a1
17:41219755 BRCA1 G>C	17	41219755	41219755	G	C	BRCA1	c.4987-43C>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41219755G>C	(Likely) benign	1 lab	f51a071cea
11:61539076 MYRF T>C	11	61539076	61539076	T	C	MYRF	c.845T>C	NM_001127392.3	NP_001120864.1:p.(Val282Ala)	NC_000011.9:g.61539076T>C	(Likely) benign	1 lab	f51badc5d2
14:70793127 COX16 G>A	14	70793127	70793127	G	A	COX16	c.244C>T	NM_016468.6	NP_057552.1:p.(Arg82Ter)	NC_000014.8:g.70793127G>A	(Likely) pathogenic	1 lab	f51e736c67
1:156105826 LMNA C>T	1	156105826	156105826	C	T	LMNA	c.1071C>T	NM_170707.3	NP_733821.1:p.(Asp357=)	NC_000001.10:g.156105826C>T	(Likely) benign	1 lab	f51e7f29b8
2:166848245 SCN1A AGTTT>A	2	166848245	166848254	AGTTT	A	SCN1A	c.5536_5539del	NM_001165963.1	NP_001159435.1:p.(Lys1846SerfsTer11)	NC_000002.11:g.166848251_166848254del	(Likely) pathogenic	1 lab	f52201c44d
13:113783931 F10 G>C	13	113783931	113783931	G	C	F10	c.231+5G>C	NM_000504.4	NP_000495.1:p.?	NC_000013.10:g.113783931G>C	VUS	1 lab	f5232ddec0
6:65612114 EYS C>T	6	65612114	65612114	C	T	EYS				NC_000006.11:g.65612114C>T	(Likely) pathogenic	1 lab	f528fb6213
2:96953640 SNRNP200 T>G	2	96953640	96953640	T	G	SNRNP200	c.3326A>C	NM_014014.4	NP_054733.2:p.(Asp1109Ala)	NC_000002.11:g.96953640T>G	VUS	1 lab	f52912f363
18:12337444 AFG3L2 C>T	18	12337444	12337444	C	T	AFG3L2	c.2071G>A	NM_006796.2	NP_006787.2:p.(Glu691Lys)	NC_000018.9:g.12337444C>T	(Likely) pathogenic	1 lab	f52ade77fd
8:118811817 EXT1 TG>T	8	118811817	118811818	TG	T	EXT1	c.*133del	NM_000127.3	NP_000118.2:p.?	NC_000008.10:g.118811818del	VUS	1 lab	24b83f3380
2:20113486 WDR35 AACAATTCATTAT>A	2	20113486	20113500	AACAATTCATTAT	A	WDR35	c.3396-29_3396-18del	NM_001006657.1	NP_001006658.1:p.?	NC_000002.11:g.20113489_20113500del	(Likely) pathogenic	1 lab	f5300c202e
12:112926908 PTPN11 C>A	12	112926908	112926908	C	A	PTPN11	c.1528C>A	NM_002834.3	NP_002825.3:p.(Gln510Lys)	NC_000012.11:g.112926908C>A	(Likely) pathogenic	1 lab	f532581039
12:53071210 KRT1 C>A	12	53071210	53071210	C	A	KRT1	c.1018G>T	NM_006121.4	NP_006112.3:p.(Asp340Tyr)	NC_000012.11:g.53071210C>A	(Likely) pathogenic	1 lab	f532e85ea8
2:39239460 SOS1 T>A	2	39239460	39239460	T	A	SOS1	c.2197A>T	NM_005633.3	NP_005624.2:p.(Ile733Phe)	NC_000002.11:g.39239460T>A	(Likely) pathogenic	1 lab	f537297f6a
X:119760629 C1GALT1C1 A>T	X	119760629	119760629	A	T	C1GALT1C1	c.393T>A	NM_152692.4	NP_689905.1:p.(Asp131Glu)	NC_000023.10:g.119760629A>T	(Likely) benign	1 lab	18a6e6d920
11:121028625 TECTA C>G	11	121028625	121028625	C	G	TECTA				NC_000011.9:g.121028625C>G	VUS	1 lab	f537bf926e
21:45708356 AIRE G>A	21	45708356	45708356	G	A	AIRE				NC_000021.8:g.45708356G>A	(Likely) benign	1 lab	18af490cbb
7:103159855 RELN C>A	7	103159855	103159855	C	A	RELN	c.7777G>T	NM_005045.4	NP_005036.2:p.(Gly2593Cys)	NC_000007.13:g.103159855C>A	VUS	1 lab	17729b8a17
17:41267771 BRCA1 A>T	17	41267771	41267771	A	T	BRCA1	c.106T>A	NM_007294.3	NP_009225.1:p.(Ser36Thr)	NC_000017.10:g.41267771A>T	VUS	1 lab	f53862cacf
1:202719851 KDM5B T>TA	1	202719851	202719852	T	TA	KDM5B	c.1756dup	NM_006618.5	NP_006609.3:p.(Tyr586LeufsTer6)	NC_000001.10:g.202719852dup	(Likely) pathogenic	1 lab	f53b67f213
6:112443246 LAMA4 A>C	6	112443246	112443246	A	C	LAMA4	c.4446T>G	NM_001105206.2	NP_001098676.2:p.(Phe1482Leu)	NC_000006.11:g.112443246A>C	VUS	1 lab	f53bd2cf8d
17:56772443 RAD51C C>T	17	56772443	56772443	C	T	RAD51C	c.297C>T	NM_058216.2	NP_478123.1:p.(Phe99=)	NC_000017.10:g.56772443C>T	(Likely) benign	1 lab	f53bfdaa4a
16:72821593 ZFHX3 A>AGCC	16	72821593	72821617	A	AGCC	ZFHX3	c.10579_10581dup	NM_006885.4	NP_008816.3:p.(Gly3527dup)	NC_000016.9:g.72821615_72821617dup	VUS	1 lab	1772cb9cfb
10:69957164 MYPN C>T	10	69957164	69957164	C	T	MYPN	c.3214C>T	NM_001256267.1	NP_001243196.1:p.(Arg1072Ter)	NC_000010.10:g.69957164C>T	VUS	1 lab	f53cadda6d
10:102566253 PAX2 T>A	10	102566253	102566253	T	A	PAX2	c.683T>A	NM_003988.5	NP_003979.2:p.(Leu228Ter)	NC_000010.10:g.102566253T>A	(Likely) pathogenic	1 lab	18ab78a55d
6:32064671 TNXB C>A	6	32064671	32064671	C	A	TNXB	c.959G>T	NM_019105.8	NP_061978.6:p.(Arg320Leu)	NC_000006.11:g.32064671C>A	VUS	1 lab	1772f7990a
6:73904307 MISSING T>A	6	73904307	73904307	T	A	MISSING				NC_000006.11:g.73904307T>A	(Likely) benign	1 lab	f53ffd494c
18:33877930 FHOD3 G>A	18	33877930	33877930	G	A	FHOD3	c.132G>A	NM_025135.4	NP_079411.2:p.(Ala44=)	NC_000018.9:g.33877930G>A	(Likely) benign	1 lab	f5407dee41
5:140896444 DIAPH1 T>A	5	140896444	140896444	T	A	DIAPH1	c.3793A>T	NM_005219.4	NP_005210.3:p.(Lys1265Ter)	NC_000005.9:g.140896444T>A	(Likely) benign	1 lab	f546b6d3af
3:170715830 SLC2A2 G>A	3	170715830	170715830	G	A	SLC2A2	c.1437C>T	NM_000340.1	NP_000331.1:p.(Phe479=)	NC_000003.11:g.170715830G>A	(Likely) benign	1 lab	f5475a6e5c
5:178408795 GRM6 C>T	5	178408795	178408795	C	T	GRM6	c.2497G>A	NM_000843.3	NP_000834.2:p.(Gly833Ser)	NC_000005.9:g.178408795C>T	VUS	1 lab	f5477948c0
21:43792869 TMPRSS3 C>T	21	43792869	43792869	C	T	TMPRSS3				NC_000021.8:g.43792869C>T	(Likely) benign	1 lab	f6d703d1d0
12:52159571 SCN8A C>T	12	52159571	52159571	C	T	SCN8A	c.2661C>T	NM_014191.4	NP_055006.1:p.(Phe887=)	NC_000012.11:g.52159571C>T	(Likely) benign	1 lab	f5483c8256
2:228172580 COL4A3 TG>T	2	228172580	228172583	TG	T	COL4A3	c.4410del	NM_000091.5	NP_000082.2:p.(Ser1472LeufsTer57)	NC_000002.11:g.228172583del	(Likely) pathogenic	1 lab	f548b4c363
1:160097485 ATP1A2 G>C	1	160097485	160097485	G	C	ATP1A2	c.892G>C	NM_000702.3	NP_000693.1:p.(Val298Leu)	NC_000001.10:g.160097485G>C	VUS	1 lab	f548bddd87
11:6413256 SMPD1 C>T	11	6413256	6413256	C	T	SMPD1	c.961C>T	NM_000543.4	NP_000534.3:p.(His321Tyr)	NC_000011.9:g.6413256C>T	(Likely) pathogenic	1 lab	f54aab6aa5
6:42672272 PRPH2 C>T	6	42672272	42672272	C	T	PRPH2	c.659G>A	NM_000322.4	NP_000313.2:p.(Arg220Gln)	NC_000006.11:g.42672272C>T	VUS	1 lab	f54eef89e3
4:187209729 F11 G>A	4	187209729	187209729	G	A	F11	c.1839G>A	NM_000128.3	NP_000119.1:p.(Glu613=)	NC_000004.11:g.187209729G>A	(Likely) benign	1 lab	f550bfdac9
12:6127878 VWF C>T	12	6127878	6127878	C	T	VWF	c.4706G>A	NM_000552.3	NP_000543.2:p.(Arg1569His)	NC_000012.11:g.6127878C>T	(Likely) benign	1 lab	f551690dc5
11:76924985 MYO7A C>T	11	76924985	76924985	C	T	MYO7A	c.6519C>T	NM_000260.3	NP_000251.3:p.(Asn2173=)	NC_000011.9:g.76924985C>T	(Likely) benign	1 lab	f5538b792d
13:32912081 BRCA2 A>T	13	32912081	32912081	A	T	BRCA2	c.3589A>T	NM_000059.4	NP_000050.3:p.(Lys1197Ter)	NC_000013.10:g.32912081A>T	(Likely) pathogenic	1 lab	f554c6a22f
3:123166471 ADCY5 C>G	3	123166471	123166471	C	G	ADCY5	c.922G>C	NM_183357.2	NP_899200.1:p.(Val308Leu)	NC_000003.11:g.123166471C>G	(Likely) benign	1 lab	f554fceb7e
1:150307597 PRPF3 C>T	1	150307597	150307597	C	T	PRPF3	c.920C>T	NM_004698.4	NP_004689.1:p.(Ser307Phe)	NC_000001.10:g.150307597C>T	VUS	1 lab	177777f7f2
1:204159680 KISS1 A>G	1	204159680	204159680	A	G	KISS1	c.349T>C	NM_002256.3	NP_002247.3:p.(Phe117Leu)	NC_000001.10:g.204159680A>G	VUS	1 lab	f55607e3d4
8:100654473 VPS13B G>GA	8	100654473	100654480	G	GA	VPS13B	c.5737dup	NM_017890.5	NP_060360.3:p.(Ile1913AsnfsTer7)	NC_000008.10:g.100654480dup	(Likely) pathogenic	1 lab	177ca49aaf
12:13768074 GRIN2B C>G	12	13768074	13768074	C	G	GRIN2B				NC_000012.11:g.13768074C>G	(Likely) pathogenic	1 lab	f559f48582
12:2162766 CACNA1C A>G	12	2162766	2162766	A	G	CACNA1C	c.38A>G	NM_000719.7	NP_000710.5:p.(Glu13Gly)	NC_000012.11:g.2162766A>G	VUS	1 lab	05fb0134a3
2:223096829 PAX3 G>A	2	223096829	223096829	G	A	PAX3	c.760C>T	NM_181459.3	NP_852124.1:p.(Gln254Ter)	NC_000002.11:g.223096829G>A	(Likely) pathogenic	1 lab	f55a0a309a
4:149116018 NR3C2 T>C	4	149116018	149116018	T	C	NR3C2	c.1898-5A>G	NM_000901.4	NP_000892.2:p.?	NC_000004.11:g.149116018T>C	(Likely) pathogenic	1 lab	f55b2ee0cb
2:47693934 MSH2 A>T	2	47693934	47693934	A	T	MSH2	c.1648A>T	NM_000251.2	NP_000242.1:p.(Lys550Ter)	NC_000002.11:g.47693934A>T	(Likely) pathogenic	1 lab	f55ec79a27
7:128482287 FLNC C>T	7	128482287	128482287	C	T	FLNC	c.2124C>T	NM_001458.4	NP_001449.3:p.(Asp708=)	NC_000007.13:g.128482287C>T	(Likely) benign	1 lab	f55f3896ba
9:139396690 NOTCH1 C>T	9	139396690	139396690	C	T	NOTCH1	c.5384+34G>A	NM_017617.4	NP_060087.3:p.?	NC_000009.11:g.139396690C>T	(Likely) benign	1 lab	f5602c4e8a
15:63349132 TPM1 T>A	15	63349132	63349132	T	A	TPM1	c.241-52T>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63349132T>A	(Likely) benign	1 lab	f561fea65b
7:91715589 AKAP9 T>G	7	91715589	91715589	T	G	AKAP9	c.9048T>G	NM_147185.2	NP_671714.1:p.(Gly3016=)	NC_000007.13:g.91715589T>G	(Likely) benign	1 lab	f56861e189
13:32900477 BRCA2 G>A	13	32900477	32900477	G	A	BRCA2	c.516+58G>A	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900477G>A	(Likely) benign	1 lab	f569735ce5
1:43830946 MISSING T>A	1	43830946	43830946	T	A	MISSING				NC_000001.10:g.43830946T>A	VUS	1 lab	f569fe1130
15:28171343 OCA2 A>T	15	28171343	28171343	A	T	OCA2	c.2009T>A	NM_000275.3	NP_000266.2:p.(Phe670Tyr)	NC_000015.9:g.28171343A>T	VUS	1 lab	f56b2f912f
11:17667319 OTOG G>A	11	17667319	17667319	G	A	OTOG	c.8606G>A	NM_001277269.1	NP_001264198.1:p.(Cys2869Tyr)	NC_000011.9:g.17667319G>A	VUS	1 lab	f56cbb62f1
17:65942214 BPTF C>T	17	65942214	65942214	C	T	BPTF	c.7390C>T	NM_182641.4	NP_872579.2:p.(Pro2464Ser)	NC_000017.10:g.65942214C>T	(Likely) benign	1 lab	f56d07a792
9:12694076 TYRP1 C>G	9	12694076	12694076	C	G	TYRP1	c.80C>G	NM_000550.3	NP_000541.1:p.(Pro27Arg)	NC_000009.11:g.12694076C>G	(Likely) pathogenic	1 lab	f56d21abe3
1:245027329 HNRNPU T>A	1	245027329	245027329	T	A	HNRNPU	c.281A>T	NM_031844.3	NP_114032.2:p.(Glu94Val)	NC_000001.10:g.245027329T>A	VUS	1 lab	178175f8fa
22:29090025 CHEK2 G>A	22	29090025	29090025	G	A	CHEK2	c.1456C>T	NM_007194.4	NP_009125.1:p.(Leu486Phe)	NC_000022.10:g.29090025G>A	VUS	1 lab	f56e46fecb
2:74146869 ACTG2 G>A	2	74146869	74146869	G	A	ACTG2				NC_000002.11:g.74146869G>A	(Likely) benign	1 lab	f60270bc63
16:56933467 SLC12A3 C>T	16	56933467	56933467	C	T	SLC12A3	c.2686C>T	NM_000339.2	NP_000330.2:p.(Arg896Ter)	NC_000016.9:g.56933467C>T	(Likely) pathogenic	1 lab	f579dbacfb
11:17428509 ABCC8 C>T	11	17428509	17428509	C	T	ABCC8	c.3154G>A	NM_001351295.1	NP_001338224.1:p.(Asp1052Asn)	NC_000011.9:g.17428509C>T	VUS	1 lab	f57b6a1905
4:77660239 SHROOM3 C>T	4	77660239	77660239	C	T	SHROOM3	c.913C>T	NM_020859.3	NP_065910.3:p.(Arg305Cys)	NC_000004.11:g.77660239C>T	VUS	1 lab	f57e5f711c
1:27120790 PIGV C>T	1	27120790	27120790	C	T	PIGV	c.265C>T	NM_017837.4	NP_060307.2:p.(Pro89Ser)	NC_000001.10:g.27120790C>T	(Likely) pathogenic	1 lab	f57e8dbb7e
X:41205825 DDX3X T>C	X	41205825	41205825	T	C	DDX3X	c.1565T>C	NM_001356.5	NP_001347.3:p.(Ile522Thr)	NC_000023.10:g.41205825T>C	VUS	1 lab	f585950752
9:136324239 ADAMTS13 C>A	9	136324239	136324239	C	A	ADAMTS13	c.4053C>A	NM_139027.6	NP_620596.2:p.(Thr1351=)	NC_000009.11:g.136324239C>A	(Likely) benign	1 lab	f58921eb1e
2:48030667 MSH6 C>G	2	48030667	48030667	C	G	MSH6	c.3281C>G	NM_000179.2	NP_000170.1:p.(Ser1094Ter)	NC_000002.11:g.48030667C>G	(Likely) pathogenic	1 lab	f58a3033cd
12:6161786 VWF G>A	12	6161786	6161786	G	A	VWF	c.2109C>T	NM_000552.3	NP_000543.2:p.(Pro703=)	NC_000012.11:g.6161786G>A	(Likely) benign	1 lab	f58aa3b135
1:215821939 USH2A C>T	1	215821939	215821939	C	T	USH2A	c.14513G>A	NM_206933.2	NP_996816.2:p.(Gly4838Glu)	NC_000001.10:g.215821939C>T	(Likely) benign	1 lab	f58b8c71fb
3:55508519 WNT5A C>G	3	55508519	55508519	C	G	WNT5A				NC_000003.11:g.55508519C>G	VUS	1 lab	f58dbcd993
16:23640956 PALB2 T>C	16	23640956	23640956	T	C	PALB2	c.2514+5A>G	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23640956T>C	(Likely) benign	1 lab	f58e06a4e2
X:135290733 FHL1 T>C	X	135290733	135290733	T	C	FHL1	c.621T>C	NM_001159702.2	NP_001153174.1:p.(Tyr207=)	NC_000023.10:g.135290733T>C	(Likely) benign	1 lab	f5961a7d7e
17:37822561 TCAP G>T	17	37822561	37822561	G	T	TCAP	c.*199G>T	NM_003673.3	NP_003664.1:p.?	NC_000017.10:g.37822561G>T	(Likely) benign	1 lab	f59953677f
5:88183313 MEF2C A>G	5	88183313	88183313	A	G	MEF2C	c.-143+6T>C	NM_001131005.2	NP_001124477.1:p.?	NC_000005.9:g.88183313A>G	(Likely) benign	1 lab	1789ba828e
14:64596902 SYNE2 C>G	14	64596902	64596902	C	G	SYNE2	c.14276C>G	NM_182914.2	NP_878918.2:p.(Ala4759Gly)	NC_000014.8:g.64596902C>G	(Likely) benign	1 lab	f59ca97a06
17:7402463 POLR2A A>G	17	7402463	7402463	A	G	POLR2A	c.1441A>G	NM_000937.5	NP_000928.1:p.(Thr481Ala)	NC_000017.10:g.7402463A>G	VUS	1 lab	f59dab2ee5
1:216107962 USH2A T>C	1	216107962	216107962	T	C	USH2A	c.7296A>G	NM_206933.2	NP_996816.2:p.(Pro2432=)	NC_000001.10:g.216107962T>C	(Likely) benign	1 lab	f59f8adfcd
2:170129547 LRP2 C>T	2	170129547	170129547	C	T	LRP2	c.2006G>A	NM_004525.2	NP_004516.2:p.(Gly669Asp)	NC_000002.11:g.170129547C>T	(Likely) benign	1 lab	f59ff53e74
8:11612665 GATA4 A>T	8	11612665	11612665	A	T	GATA4	c.997+23A>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11612665A>T	(Likely) benign	1 lab	f5a115aed7
11:534288 HRAS C>G	11	534288	534288	C	G	HRAS				NC_000011.9:g.534288C>G	(Likely) pathogenic	1 lab	f5a19d058f
2:73828408 MISSING T>C	2	73828408	73828408	T	C	MISSING				NC_000002.11:g.73828408T>C	VUS	1 lab	f5a4b30aa7
X:128621096 SMARCA1 G>A	X	128621096	128621096	G	A	SMARCA1	c.2116C>T	NM_003069.5	NP_003060.2:p.(Arg706Cys)	NC_000023.10:g.128621096G>A	(Likely) benign	1 lab	179094fa50
5:89938532 ADGRV1 G>A	5	89938532	89938532	G	A	ADGRV1	c.2320G>A	NM_032119.3	NP_115495.3:p.(Gly774Arg)	NC_000005.9:g.89938532G>A	VUS	1 lab	f5aa257db9
2:166032823 SCN3A G>A	2	166032823	166032823	G	A	SCN3A	c.82C>T	NM_006922.3	NP_008853.3:p.(Arg28Cys)	NC_000002.11:g.166032823G>A	VUS	1 lab	f5ac5cb82e
16:68856080 CDH1 C>G	16	68856080	68856080	C	G	CDH1	c.1888C>G	NM_004360.5	NP_004351.1:p.(Leu630Val)	NC_000016.9:g.68856080C>G	(Likely) benign	1 lab	f5afc691bd
19:45206697 CEACAM16 T>A	19	45206697	45206697	T	A	CEACAM16	c.116T>A	NM_001039213.3	NP_001034302.2:p.(Leu39Gln)	NC_000019.9:g.45206697T>A	VUS	1 lab	f5b1f795be
5:112176744 APC A>G	5	112176744	112176744	A	G	APC	c.5453A>G	NM_000038.6	NP_000029.2:p.(Asn1818Ser)	NC_000005.9:g.112176744A>G	(Likely) benign	1 lab	f5b34e14aa
10:73499529 CDH23 G>C	10	73499529	73499529	G	C	CDH23	c.4488G>C	NM_022124.5	NP_071407.4:p.(Gln1496His)	NC_000010.10:g.73499529G>C	(Likely) pathogenic	1 lab	f5b3d3779c
13:32900369 BRCA2 T>C	13	32900369	32900369	T	C	BRCA2	c.476-10T>C	NM_000059.4	NP_000050.3:p.?	NC_000013.10:g.32900369T>C	(Likely) benign	1 lab	f5b589b83a
16:86601834 FOXC2 TGCCGCCGCTGGCGCTGCCCTAC>T	16	86601834	86601864	TGCCGCCGCTGGCGCTGCCCTAC	T	FOXC2	c.902_923del	NM_005251.3	NP_005242.1:p.(Leu301ArgfsTer29)	NC_000016.9:g.86601843_86601864del	(Likely) pathogenic	1 lab	f5b9200f51
13:36006464 NBEA C>T	13	36006464	36006464	C	T	NBEA	c.6238C>T	NM_015678.4	NP_056493.3:p.(Arg2080Ter)	NC_000013.10:g.36006464C>T	(Likely) pathogenic	1 lab	f5ba3f268f
1:27875384 AHDC1 TG>T	1	27875384	27875385	TG	T	AHDC1				NC_000001.10:g.27875385del	(Likely) pathogenic	1 lab	f5bad67607
3:47459679 SCAP C>T	3	47459679	47459679	C	T	SCAP	c.2392G>A	NM_012235.2	NP_036367.2:p.(Val798Ile)	NC_000003.11:g.47459679C>T	(Likely) benign	1 lab	f5c1f5a878
17:39914680 JUP G>A	17	39914680	39914680	G	A	JUP	c.1744C>T	NM_002230.4	NP_002221.1:p.(Arg582Trp)	NC_000017.10:g.39914680G>A	VUS	1 lab	17969cf706
1:151372679 PSMB4 A>G	1	151372679	151372679	A	G	PSMB4	c.347+16A>G	NM_002796.3	NP_002787.2:p.?	NC_000001.10:g.151372679A>G	(Likely) benign	1 lab	18b50d125c
22:32194579 DEPDC5 C>T	22	32194579	32194579	C	T	DEPDC5	c.883C>T	NM_001242896.3	NP_001229825.1:p.(Gln295Ter)	NC_000022.10:g.32194579C>T	(Likely) pathogenic	1 lab	f5d0e78884
17:33430482 RAD51D G>A	17	33430482	33430482	G	A	RAD51D	c.658C>T	NM_002878.3	NP_002869.3:p.(Gln220Ter)	NC_000017.10:g.33430482G>A	(Likely) pathogenic	1 lab	f5d25c376e
X:132440116 GPC4 A>G	X	132440116	132440116	A	G	GPC4	c.944T>C	NM_001448.3	NP_001439.2:p.(Ile315Thr)	NC_000023.10:g.132440116A>G	VUS	1 lab	f5d6410dc5
X:107908790 COL4A5 G>A	X	107908790	107908790	G	A	COL4A5	c.3427G>A	NM_033380.2	NP_203699.1:p.(Gly1143Ser)	NC_000023.10:g.107908790G>A	(Likely) pathogenic	1 lab	f5e1a29692
9:131008691 DNM1 A>G	9	131008691	131008691	A	G	DNM1	c.1690A>G	NM_004408.4	NP_004399.2:p.(Met564Val)	NC_000009.11:g.131008691A>G	VUS	1 lab	f5e42f481d
13:60554994 DIAPH3 C>A	13	60554994	60554994	C	A	DIAPH3	c.1481-1G>T	NM_001042517.2	NP_001035982.1:p.?	NC_000013.10:g.60554994C>A	(Likely) pathogenic	1 lab	179c8ab32a
7:73475439 ELN G>T	7	73475439	73475439	G	T	ELN	c.1756G>T	NM_000501.3	NP_000492.2:p.(Ala586Ser)	NC_000007.13:g.73475439G>T	(Likely) benign	1 lab	f5e49ae1eb
5:134870858 NEUROG1 C>G	5	134870858	134870858	C	G	NEUROG1	c.523G>C	NM_006161.2	NP_006152.2:p.(Gly175Arg)	NC_000005.9:g.134870858C>G	VUS	1 lab	f5e69ce18e
10:72358804 PRF1 G>A	10	72358804	72358804	G	A	PRF1	c.673C>T	NM_005041.4	NP_005032.2:p.(Arg225Trp)	NC_000010.10:g.72358804G>A	(Likely) pathogenic	1 lab	f5ec730187
18:52899905 TCF4 G>C	18	52899905	52899905	G	C	TCF4				NC_000018.9:g.52899905G>C	(Likely) pathogenic	1 lab	f5ee8fda45
18:11881049 GNAL T>G	18	11881049	11881049	T	G	GNAL	c.1061T>G	NM_001142339.2	NP_001135811.1:p.(Val354Gly)	NC_000018.9:g.11881049T>G	VUS	1 lab	f5f0caecf6
7:16131286 CRPPA G>C	7	16131286	16131286	G	C	CRPPA	c.*34C>G	NM_001101426.3	NP_001094896.1:p.?	NC_000007.13:g.16131286G>C	(Likely) benign	1 lab	f5f1207b3a
19:6719212 C3 C>A	19	6719212	6719212	C	A	C3	c.267+10G>T	NM_000064.2	NP_000055.2:p.?	NC_000019.9:g.6719212C>A	(Likely) benign	1 lab	f5f1d08aad
1:196658724 CFH C>A	1	196658724	196658724	C	A	CFH	c.1139C>A	NM_000186.4	NP_000177.2:p.(Ser380Ter)	NC_000001.10:g.196658724C>A	(Likely) pathogenic	1 lab	f5f20173b2
11:17618536 OTOG C>T	11	17618536	17618536	C	T	OTOG	c.3700C>T	NM_001277269.1	NP_001264198.1:p.(Arg1234Ter)	NC_000011.9:g.17618536C>T	(Likely) pathogenic	1 lab	f5f2104fbe
17:41246398 BRCA1 C>A	17	41246398	41246398	C	A	BRCA1	c.1150G>T	NM_007294.3	NP_009225.1:p.(Glu384Ter)	NC_000017.10:g.41246398C>A	(Likely) pathogenic	1 lab	f5f5448f00
16:56553816 BBS2 A>C	16	56553816	56553816	A	C	BBS2	c.-42T>G	NM_031885.3	NP_114091.3:p.?	NC_000016.9:g.56553816A>C	(Likely) benign	1 lab	f5f709e718
3:37067134 MLH1 C>A	3	37067134	37067134	C	A	MLH1	c.1045C>A	NM_000249.3	NP_000240.1:p.(Leu349Ile)	NC_000003.11:g.37067134C>A	VUS	1 lab	f5f7403dbe
7:6438307 RAC1 C>CT	7	6438307	6438308	C	CT	RAC1	c.240_241insT	NM_018890.3	NP_061485.1:p.(Gly81TrpfsTer2)	NC_000007.13:g.6438307_6438308insT	(Likely) benign	1 lab	f5f91d6661
X:20204499 RPS6KA3 A>G	X	20204499	20204499	A	G	RPS6KA3	c.775-15T>C	NM_004586.3	NP_004577.1:p.?	NC_000023.10:g.20204499A>G	(Likely) benign	1 lab	18b5dc666d
4:84205694 COQ2 A>C	4	84205694	84205694	A	C	COQ2	c.374T>G	NM_015697.7	NP_056512.5:p.(Leu125Trp)	NC_000004.11:g.84205694A>C	VUS	1 lab	f5fd11eea7
2:167144975 SCN9A C>T	2	167144975	167144975	C	T	SCN9A	c.1286G>A	NM_001365536.1	NP_001352465.1:p.(Arg429His)	NC_000002.11:g.167144975C>T	(Likely) benign	1 lab	f601df5320
14:105411211 AHNAK2 G>A	14	105411211	105411211	G	A	AHNAK2	c.10577C>T	NM_138420.4	NP_612429.2:p.(Pro3526Leu)	NC_000014.8:g.105411211G>A	(Likely) benign	1 lab	179dea1af0
11:108236112 ATM A>G	11	108236112	108236112	A	G	ATM	c.9048A>G	NM_000051.4	NP_000042.3:p.(Lys3016=)	NC_000011.9:g.108236112A>G	(Likely) benign	1 lab	f607c429ee
2:179475807 TTN T>C	2	179475807	179475807	T	C	TTN	c.51049A>G	NM_001267550.2	NP_001254479.2:p.(Ser17017Gly)	NC_000002.11:g.179475807T>C	(Likely) benign	1 lab	f608a3f387
19:11492715 EPOR C>A	19	11492715	11492715	C	A	EPOR	c.318G>T	NM_000121.4	NP_000112.1:p.(Trp106Cys)	NC_000019.9:g.11492715C>A	VUS	1 lab	f60a1f088c
1:237777418 RYR2 G>A	1	237777418	237777418	G	A	RYR2	c.4990G>A	NM_001035.3	NP_001026.2:p.(Val1664Ile)	NC_000001.10:g.237777418G>A	(Likely) benign	1 lab	f60b9f6de2
11:533351 HRAS C>T	11	533351	533351	C	T	HRAS	c.458G>A	NM_176795.4	NP_789765.1:p.(Arg153His)	NC_000011.9:g.533351C>T	(Likely) benign	1 lab	f60fdbfa86
19:6714273 C3 G>A	19	6714273	6714273	G	A	C3	c.600-14C>T	NM_000064.3	NP_000055.2:p.?	NC_000019.9:g.6714273G>A	(Likely) benign	1 lab	f61029d434
X:63413163 AMER1 C>T	X	63413163	63413163	C	T	AMER1	c.4G>A	NM_152424.4	NP_689637.3:p.(Glu2Lys)	NC_000023.10:g.63413163C>T	VUS	1 lab	17a5c3ca80
14:23863475 MYH6 C>T	14	23863475	23863475	C	T	MYH6	c.2487G>A	NM_002471.3	NP_002462.2:p.(Trp829Ter)	NC_000014.8:g.23863475C>T	VUS	1 lab	d8ab4beb51
15:35083364 ACTC1 C>T	15	35083364	35083364	C	T	ACTC1	c.941G>A	NM_005159.4	NP_005150.1:p.(Arg314His)	NC_000015.9:g.35083364C>T	(Likely) pathogenic	1 lab	f618b77f51
5:92924127 NR2F1 A>C	5	92924127	92924127	A	C	NR2F1	c.968A>C	NM_005654.5	NP_005645.1:p.(Lys323Thr)	NC_000005.9:g.92924127A>C	(Likely) pathogenic	1 lab	f618cec4d6
11:108175433 ATM C>G	11	108175433	108175433	C	G	ATM	c.5528C>G	NM_000051.4	NP_000042.3:p.(Pro1843Arg)	NC_000011.9:g.108175433C>G	VUS	1 lab	17a5fb0ac9
11:124766117 ROBO4 C>T	11	124766117	124766117	C	T	ROBO4	c.656G>A	NM_019055.6	NP_061928.4:p.(Arg219His)	NC_000011.9:g.124766117C>T	(Likely) benign	1 lab	17aac14f45
19:50910371 POLD1 C>T	19	50910371	50910371	C	T	POLD1	c.1626C>T	NM_002691.4	NP_002682.2:p.(Pro542=)	NC_000019.9:g.50910371C>T	(Likely) benign	1 lab	f61fc7a48c
10:122663598 WDR11 C>T	10	122663598	122663598	C	T	WDR11	c.2971C>T	NM_018117.11	NP_060587.8:p.(Arg991Trp)	NC_000010.10:g.122663598C>T	VUS	1 lab	f620928174
2:148778272 ORC4 A>G	2	148778272	148778272	A	G	ORC4	c.-113T>C	NM_002552.4	NP_002543.2:p.?	NC_000002.11:g.148778272A>G	(Likely) benign	1 lab	f63b62cbb4
22:17669241 ADA2 C>T	22	17669241	17669241	C	T	ADA2	c.1069G>A	NM_001282225.2	NP_001269154.1:p.(Ala357Thr)	NC_000022.10:g.17669241C>T	(Likely) pathogenic	1 lab	17ad39cbb0
19:3118948 GNA11 C>G	19	3118948	3118948	C	G	GNA11	c.632C>G	NM_002067.4	NP_002058.2:p.(Ser211Trp)	NC_000019.9:g.3118948C>G	(Likely) pathogenic	1 lab	f621f9fc81
1:1736004 GNB1 A>G	1	1736004	1736004	A	G	GNB1	c.284T>C	NM_002074.5	NP_002065.1:p.(Leu95Pro)	NC_000001.10:g.1736004A>G	(Likely) pathogenic	1 lab	f623881ec4
6:32943152 BRD2 T>C	6	32943152	32943152	T	C	BRD2	c.334-9T>C	NM_001199455.1	NP_001186384.1:p.?	NC_000006.11:g.32943152T>C	(Likely) benign	1 lab	18c10dd908
13:86369120 SLITRK6 C>T	13	86369120	86369120	C	T	SLITRK6	c.1524G>A	NM_032229.2	NP_115605.2:p.(Leu508=)	NC_000013.10:g.86369120C>T	(Likely) benign	1 lab	f644ee012f
13:100637837 ZIC2 CGGGGCGGGCGGCG>C	13	100637837	100637857	CGGGGCGGGCGGCG	C	ZIC2	c.1508_1520del	NM_007129.3	NP_009060.2:p.(Gly503AlafsTer48)	NC_000013.10:g.100637845_100637857del	(Likely) pathogenic	1 lab	f62a782f80
2:47705660 MSH2 T>G	2	47705660	47705660	T	G	MSH2	c.2458+2T>G	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47705660T>G	(Likely) pathogenic	1 lab	f62bdfb635
19:1220748 STK11 C>T	19	1220748	1220748	C	T	STK11	c.734+32C>T	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220748C>T	(Likely) benign	1 lab	f62cb0423b
1:94564385 ABCA4 A>G	1	94564385	94564385	A	G	ABCA4	c.733T>C	NM_000350.2	NP_000341.2:p.(Tyr245His)	NC_000001.10:g.94564385A>G	VUS	1 lab	f62e0e7827
14:23895000 MYH7 G>T	14	23895000	23895000	G	T	MYH7	c.2190C>A	NM_000257.2	NP_000248.2:p.(Ile730=)	NC_000014.8:g.23895000G>T	(Likely) pathogenic	1 lab	18c2c9cf9b
1:169483561 F5 T>C	1	169483561	169483561	T	C	F5	c.6665A>G	NM_000130.4	NP_000121.2:p.(Asp2222Gly)	NC_000001.10:g.169483561T>C	(Likely) benign	1 lab	f6326d7e93
11:120996186 TECTA T>C	11	120996186	120996186	T	C	TECTA				NC_000011.9:g.120996186T>C	VUS	1 lab	f6329e770c
10:88428540 LDB3 G>A	10	88428540	88428540	G	A	LDB3	c.92G>A	NM_007078.2	NP_009009.1:p.(Arg31Gln)	NC_000010.10:g.88428540G>A	VUS	1 lab	f632b6a141
17:36070617 HNF1B CTGAT>C	17	36070617	36070623	CTGAT	C	HNF1B	c.1096_1099del	NM_000458.3	NP_000449.1:p.(Ile366ValfsTer9)	NC_000017.10:g.36070620_36070623del	(Likely) pathogenic	1 lab	f63424a138
22:42606569 TCF20 CCT>C	22	42606569	42606573	CCT	C	TCF20	c.4741_4742del	NM_001378418.1	NP_001365347.1:p.(Arg1581AlafsTer30)	NC_000022.10:g.42606572_42606573del	(Likely) pathogenic	1 lab	f64138a05d
19:39071046 RYR1 T>A	19	39071046	39071046	T	A	RYR1	c.14548T>A	NM_000540.2	NP_000531.2:p.(Tyr4850Asn)	NC_000019.9:g.39071046T>A	VUS	1 lab	f643c55227
15:63354610 TPM1 G>A	15	63354610	63354610	G	A	TPM1	c.702+134G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63354610G>A	(Likely) benign	1 lab	f646bbe92d
1:74930391 TNNI3K C>G	1	74930391	74930391	C	G	TNNI3K	c.2121+1157C>G	NM_015978.2	NP_057062.1:p.?	NC_000001.10:g.74930391C>G	(Likely) benign	1 lab	f64bf2ac6b
1:10364677 KIF1B T>C	1	10364677	10364677	T	C	KIF1B	c.3434T>C	NM_183416.3	NP_904325.2:p.(Leu1145Pro)	NC_000001.10:g.10364677T>C	VUS	1 lab	f64cf55956
1:11090287 MASP2 C>T	1	11090287	11090287	C	T	MASP2	c.1243G>A	NM_006610.4	NP_006601.2:p.(Asp415Asn)	NC_000001.10:g.11090287C>T	(Likely) benign	1 lab	18c3c8930b
13:32911666 BRCA2 AC>A	13	32911666	32911667	AC	A	BRCA2	c.3175del	NM_000059.4	NP_000050.3:p.(Leu1059Ter)	NC_000013.10:g.32911667del	(Likely) pathogenic	1 lab	17b005bbfd
20:52773763 CYP24A1 G>A	20	52773763	52773763	G	A	CYP24A1	c.1500C>T	NM_000782.4	NP_000773.2:p.(Thr500=)	NC_000020.10:g.52773763G>A	(Likely) benign	1 lab	f6502e43f3
5:90106265 ADGRV1 T>C	5	90106265	90106265	T	C	ADGRV1	c.15188T>C	NM_032119.4	NP_115495.3:p.(Leu5063Pro)	NC_000005.9:g.90106265T>C	VUS	1 lab	f6510d4658
1:201038659 CACNA1S G>A	1	201038659	201038659	G	A	CACNA1S	c.2431C>T	NM_000069.2	NP_000060.2:p.(Leu811Phe)	NC_000001.10:g.201038659G>A	VUS	1 lab	f65293a1d8
2:179434269 TTN T>C	2	179434269	179434269	T	C	TTN	c.76590A>G	NM_001267550.2	NP_001254479.2:p.(Leu25530=)	NC_000002.11:g.179434269T>C	(Likely) benign	1 lab	f653e3a482
2:167298093 SCN7A A>G	2	167298093	167298093	A	G	SCN7A	c.1970T>C	NM_002976.3	NP_002967.2:p.(Val657Ala)	NC_000002.11:g.167298093A>G	(Likely) benign	1 lab	f654cf9581
17:4836173 GP1BA CT>C	17	4836173	4836174	CT	C	GP1BA	c.275del	NM_000173.5	NP_000164.5:p.(Leu92ArgfsTer20)	NC_000017.10:g.4836174del	(Likely) pathogenic	1 lab	f65695448a
17:41223318 BRCA1 C>T	17	41223318	41223318	C	T	BRCA1	c.4676-63G>A	NM_007294.3	NP_009225.1:p.?	NC_000017.10:g.41223318C>T	(Likely) benign	1 lab	f657dfeaa6
5:78264906 ARSB T>G	5	78264906	78264906	T	G	ARSB	c.422A>C	NM_000046.4	NP_000037.2:p.(His141Pro)	NC_000005.9:g.78264906T>G	(Likely) pathogenic	1 lab	f65938b67b
7:151478358 PRKAG2 G>A	7	151478358	151478358	G	A	PRKAG2	c.346C>T	NM_016203.4	NP_057287.2:p.(Arg116Cys)	NC_000007.13:g.151478358G>A	VUS	1 lab	17b02f250a
9:130430438 STXBP1 C>T	9	130430438	130430438	C	T	STXBP1	c.874C>T	NM_003165.3	NP_003156.1:p.(Arg292Cys)	NC_000009.11:g.130430438C>T	(Likely) pathogenic	1 lab	f65a8a93ee
9:139397773 NOTCH1 GAC>G	9	139397773	139397775	GAC	G	NOTCH1	c.5026_5027del	NM_017617.4	NP_060087.3:p.(Val1676LeufsTer5)	NC_000009.11:g.139397774_139397775del	(Likely) pathogenic	1 lab	f65aa5a0c8
15:93496919 CHD2 C>T	15	93496919	93496919	C	T	CHD2	c.1719+116C>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93496919C>T	(Likely) benign	1 lab	18c81798a5
20:31023713 ASXL1 GTC>G	20	31023713	31023717	GTC	G	ASXL1	c.3201_3202del	NM_015338.6	NP_056153.2:p.(Arg1068SerfsTer18)	NC_000020.10:g.31023716_31023717del	(Likely) pathogenic	1 lab	17b82200b3
11:687929 DEAF1 T>C	11	687929	687929	T	C	DEAF1	c.646A>G	NM_021008.3	NP_066288.2:p.(Lys216Glu)	NC_000011.9:g.687929T>C	(Likely) pathogenic	1 lab	f65de89555
12:32996318 PKP2 C>T	12	32996318	32996318	C	T	PKP2	c.1379-71G>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32996318C>T	(Likely) benign	1 lab	f65e048a4d
19:46271371 DMPK C>T	19	46271371	46271371	C	T	DMPK				NC_000019.9:g.46271371C>T	(Likely) benign	1 lab	f65f854c00
21:47558473 FTCD G>C	21	47558473	47558473	G	C	FTCD	c.1392C>G	NM_006657.3	NP_006648.1:p.(Ala464=)	NC_000021.8:g.47558473G>C	(Likely) benign	1 lab	17bb69f9a6
6:43011287 CUL7 C>T	6	43011287	43011287	C	T	CUL7	c.3254G>A	NM_014780.5	NP_055595.2:p.(Arg1085His)	NC_000006.11:g.43011287C>T	VUS	1 lab	f661036ff9
11:64572603 MEN1 T>C	11	64572603	64572603	T	C	MEN1	c.1253A>G	NM_130799.2	NP_570711.1:p.(Asp418Gly)	NC_000011.9:g.64572603T>C	(Likely) pathogenic	1 lab	f664176b5a
6:7579927 DSP G>A	6	7579927	7579927	G	A	DSP	c.3504G>A	NM_004415.4	NP_004406.2:p.(Glu1168=)	NC_000006.11:g.7579927G>A	(Likely) benign	1 lab	f664656c47
X:107782999 COL4A5 ATCAAAGTG>A	X	107782999	107783008	ATCAAAGTG	A	COL4A5	c.107_114del	NM_033380.2	NP_203699.1:p.(Ser36Ter)	NC_000023.10:g.107783001_107783008del	(Likely) pathogenic	1 lab	f66936685b
7:70252270 AUTS2 G>A	7	70252270	70252270	G	A	AUTS2	c.2384G>A	NM_015570.3	NP_056385.1:p.(Arg795Gln)	NC_000007.13:g.70252270G>A	VUS	1 lab	f6697fc640
7:117304852 CFTR A>T	7	117304852	117304852	A	T	CFTR	c.4074A>T	NM_000492.3	NP_000483.3:p.(Arg1358Ser)	NC_000007.13:g.117304852A>T	VUS	1 lab	f672178446
2:166929939 SCN1A A>G	2	166929939	166929939	A	G	SCN1A	c.193T>C	NM_001165963.1	NP_001159435.1:p.(Tyr65His)	NC_000002.11:g.166929939A>G	VUS	1 lab	f674d89f78
X:8538600 ANOS1 C>T	X	8538600	8538600	C	T	ANOS1	c.1002G>A	NM_000216.4	NP_000207.2:p.(Trp334Ter)	NC_000023.10:g.8538600C>T	(Likely) pathogenic	1 lab	f674f8ee62
12:52078008 SCN8A G>A	12	52078008	52078008	G	A	SCN8A	c.327G>A	NM_014191.3	NP_055006.1:p.(Thr109=)	NC_000012.11:g.52078008G>A	(Likely) benign	1 lab	f67891cf94
17:8076902 SNORD118 A>G	17	8076902	8076902	A	G	SNORD118	n.5T>C	NR_033294.1		NC_000017.10:g.8076902A>G	VUS	1 lab	f679f3ebb0
9:135866341 GFI1B A>G	9	135866341	135866341	A	G	GFI1B				NC_000009.11:g.135866341A>G	(Likely) benign	1 lab	f67a336d21
22:51018207 CHKB G>A	22	51018207	51018207	G	A	CHKB	c.980C>T	NM_005198.4	NP_005189.2:p.(Ser327Phe)	NC_000022.10:g.51018207G>A	(Likely) benign	1 lab	f67ae4e075
11:108138066 ATM A>C	11	108138066	108138066	A	C	ATM	c.2635A>C	NM_000051.4	NP_000042.3:p.(Ile879Leu)	NC_000011.9:g.108138066A>C	(Likely) benign	1 lab	f67c7b42df
2:48026067 MSH6 T>C	2	48026067	48026067	T	C	MSH6	c.945T>C	NM_000179.2	NP_000170.1:p.(Ser315=)	NC_000002.11:g.48026067T>C	(Likely) benign	1 lab	f680a5a89d
6:76527300 MYO6 TA>T	6	76527300	76527301	TA	T	MYO6	c.37del	NM_004999.3	NP_004990.3:p.(Thr13GlnfsTer17)	NC_000006.11:g.76527301del	(Likely) pathogenic	1 lab	f686af83d0
6:26094423 HFE T>A	6	26094423	26094423	T	A	HFE	c.1016T>A	NM_000410.4	NP_000401.1:p.(Met339Lys)	NC_000006.11:g.26094423T>A	VUS	1 lab	f6884c9210
14:97303954 VRK1 A>G	14	97303954	97303954	A	G	VRK1	c.161-145A>G	NM_003384.3	NP_003375.1:p.?	NC_000014.8:g.97303954A>G	(Likely) benign	1 lab	18d08e985b
20:58486827 SYCP2 A>T	20	58486827	58486827	A	T	SYCP2	c.950T>A	NM_014258.4	NP_055073.2:p.(Phe317Tyr)	NC_000020.10:g.58486827A>T	(Likely) benign	1 lab	f68ada88ea
3:52443880 BAP1 C>T	3	52443880	52443880	C	T	BAP1	c.15G>A	NM_004656.3	NP_004647.1:p.(Trp5Ter)	NC_000003.11:g.52443880C>T	(Likely) pathogenic	1 lab	f68af310ad
13:32915118 BRCA2 T>C	13	32915118	32915118	T	C	BRCA2	c.6626T>C	NM_000059.3	NP_000050.2:p.(Ile2209Thr)	NC_000013.10:g.32915118T>C	(Likely) benign	1 lab	f68d294c9c
18:11824960 GNAL T>C	18	11824960	11824960	T	C	GNAL	c.668T>C	NM_182978.4	NP_892023.1:p.(Val223Ala)	NC_000018.9:g.11824960T>C	VUS	1 lab	17bfe18e7d
5:136969793 KLHL3 C>T	5	136969793	136969793	C	T	KLHL3	c.1383G>A	NM_017415.2	NP_059111.2:p.(Glu461=)	NC_000005.9:g.136969793C>T	(Likely) benign	1 lab	f68ecdab66
1:229568034 ACTA1 T>G	1	229568034	229568034	T	G	ACTA1	c.599A>C	NM_001100.3	NP_001091.1:p.(Tyr200Ser)	NC_000001.10:g.229568034T>G	(Likely) pathogenic	1 lab	f693319dbb
X:153418437 OPN1LW C>G	X	153418437	153418437	C	G	OPN1LW	c.434C>G	NM_020061.6	NP_064445.2:p.(Ala145Gly)	NC_000023.10:g.153418437C>G	VUS	1 lab	f6937b2126
13:32914731 BRCA2 T>G	13	32914731	32914731	T	G	BRCA2	c.6239T>G	NM_000059.3	NP_000050.2:p.(Leu2080Ter)	NC_000013.10:g.32914731T>G	(Likely) pathogenic	1 lab	f693b28110
10:67680283 CTNNA3 C>A	10	67680283	67680283	C	A	CTNNA3	c.2493G>T	NM_013266.4	NP_037398.2:p.(Lys831Asn)	NC_000010.10:g.67680283C>A	VUS	1 lab	17bfeacbb7
14:55326456 GCH1 T>C	14	55326456	55326456	T	C	GCH1	c.454-2A>G	NM_000161.2	NP_000152.1:p.?	NC_000014.8:g.55326456T>C	(Likely) pathogenic	1 lab	f6963799b8
17:29486049 NF1 G>T	17	29486049	29486049	G	T	NF1	c.226G>T	NM_001042492.3	NP_001035957.1:p.(Glu76Ter)	NC_000017.10:g.29486049G>T	(Likely) pathogenic	1 lab	f69b0585ea
2:232100086 ARMC9 G>A	2	232100086	232100086	G	A	ARMC9	c.772G>A	NM_025139.6	NP_079415.4:p.(Gly258Ser)	NC_000002.11:g.232100086G>A	VUS	1 lab	17c00c1f46
10:73558201 CDH23 A>G	10	73558201	73558201	A	G	CDH23	c.6920A>G	NM_022124.6	NP_071407.4:p.(Glu2307Gly)	NC_000010.10:g.73558201A>G	VUS	1 lab	f69dcf58c5
4:6083470 JAKMIP1 G>A	4	6083470	6083470	G	A	JAKMIP1	c.967C>T	NM_001099433.1	NP_001092903.1:p.(Arg323Ter)	NC_000004.11:g.6083470G>A	VUS	1 lab	f69e40065d
6:43484869 POLR1C G>A	6	43484869	43484869	G	A	POLR1C	c.22G>A	NM_203290.2	NP_976035.1:p.(Glu8Lys)	NC_000006.11:g.43484869G>A	VUS	1 lab	f6a175e96e
13:32932005 BRCA2 G>A	13	32932005	32932005	G	A	BRCA2	c.7744G>A	NM_000059.3	NP_000050.2:p.(Ala2582Thr)	NC_000013.10:g.32932005G>A	VUS	1 lab	f6a3e97e86
X:39921450 BCOR A>AT	X	39921450	39921451	A	AT	BCOR	c.4267dup	NM_017745.5	NP_060215.4:p.(Ile1423AsnfsTer4)	NC_000023.10:g.39921451dup	(Likely) pathogenic	1 lab	f6a53f3483
2:234676582 UGT1A1 G>A	2	234676582	234676582	G	A	UGT1A1	c.1084G>A	NM_000463.3	NP_000454.1:p.(Gly362Ser)	NC_000002.11:g.234676582G>A	(Likely) pathogenic	1 lab	f6a59ee88b
12:111351980 MYL2 A>AGT	12	111351980	111351981	A	AGT	MYL2	c.274+9_274+10insAC	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111351980_111351981insGT	(Likely) benign	1 lab	f6a660c66f
15:63363607 TPM1 T>C	15	63363607	63363607	T	C	TPM1	c.*236T>C	NM_001018007.1	NP_001018007.1:p.?	NC_000015.9:g.63363607T>C	VUS	1 lab	f6afff78f5
13:32913407 BRCA2 G>A	13	32913407	32913407	G	A	BRCA2	c.4915G>A	NM_000059.3	NP_000050.2:p.(Val1639Ile)	NC_000013.10:g.32913407G>A	(Likely) benign	1 lab	f6b039b0f1
1:155313225 ASH1L GGT>G	1	155313225	155313231	GGT	G	ASH1L	c.8171_8172del	NM_018489.3	NP_060959.2:p.(His2724ProfsTer10)	NC_000001.10:g.155313230_155313231del	(Likely) pathogenic	1 lab	17c3374736
6:157431642 ARID1B C>G	6	157431642	157431642	C	G	ARID1B	c.2318C>G	NM_020732.3	NP_065783.3:p.(Ser773Ter)	NC_000006.11:g.157431642C>G	(Likely) pathogenic	1 lab	f6b0f44cdf
3:123039617 ADCY5 C>A	3	123039617	123039617	C	A	ADCY5	c.2090G>T	NM_183357.2	NP_899200.1:p.(Gly697Val)	NC_000003.11:g.123039617C>A	(Likely) pathogenic	1 lab	f6b2631980
20:31375274 DNMT3B C>T	20	31375274	31375274	C	T	DNMT3B	c.654+17C>T	NM_006892.3	NP_008823.1:p.?	NC_000020.10:g.31375274C>T	(Likely) benign	1 lab	18d629fa55
2:167055193 SCN9A T>C	2	167055193	167055193	T	C	SCN9A	c.5956A>G	NM_001365536.1	NP_001352465.1:p.(Ser1986Gly)	NC_000002.11:g.167055193T>C	(Likely) benign	1 lab	f6b40ab07a
17:33884022 SLFN14 C>G	17	33884022	33884022	C	G	SLFN14	c.1060G>C	NM_001129820.1	NP_001123292.1:p.(Ala354Pro)	NC_000017.10:g.33884022C>G	(Likely) benign	1 lab	f6b53eb9f8
5:137206480 MYOT G>A	5	137206480	137206480	G	A	MYOT	c.140G>A	NM_006790.2	NP_006781.1:p.(Cys47Tyr)	NC_000005.9:g.137206480G>A	VUS	1 lab	f6b7d6fb9f
17:41234689 BRCA1 T>C	17	41234689	41234689	T	C	BRCA1	c.4186-97A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41234689T>C	(Likely) benign	1 lab	f6b887cfb9
22:29090028 CHEK2 A>C	22	29090028	29090028	A	C	CHEK2	c.1453T>G	NM_007194.4	NP_009125.1:p.(Trp485Gly)	NC_000022.10:g.29090028A>C	VUS	1 lab	f6b8a87456
X:153049344 SRPK3 G>C	X	153049344	153049344	G	C	SRPK3	c.907+5G>C	NM_014370.3	NP_055185.2:p.?	NC_000023.10:g.153049344G>C	VUS	1 lab	f6b9d7f3ae
17:39914020 JUP A>C	17	39914020	39914020	A	C	JUP	c.1790T>G	NM_002230.3	NP_002221.1:p.(Val597Gly)	NC_000017.10:g.39914020A>C	VUS	1 lab	f6bb187ec4
1:94508463 ABCA4 A>G	1	94508463	94508463	A	G	ABCA4	c.3191-9T>C	NM_000350.2	NP_000341.2:p.?	NC_000001.10:g.94508463A>G	VUS	1 lab	f78b090de5
19:6682233 C3 C>T	19	6682233	6682233	C	T	C3	c.4180G>A	NM_000064.2	NP_000055.2:p.(Gly1394Arg)	NC_000019.9:g.6682233C>T	VUS	1 lab	f6bceaf138
21:47546448 COL6A2 C>A	21	47546448	47546448	C	A	COL6A2	c.2454C>A	NM_001849.3	NP_001840.3:p.(Cys818Ter)	NC_000021.8:g.47546448C>A	(Likely) pathogenic	1 lab	f6bd59fede
19:6496081 TUBB4A C>T	19	6496081	6496081	C	T	TUBB4A				NC_000019.9:g.6496081C>T	(Likely) benign	1 lab	f792f32cab
6:33137184 COL11A2 G>A	6	33137184	33137184	G	A	COL11A2	c.3774C>T	NM_080680.2	NP_542411.2:p.(Gly1258=)	NC_000006.11:g.33137184G>A	VUS	1 lab	f6c27295c3
1:206566904 MISSING T>C	1	206566904	206566904	T	C	MISSING				NC_000001.10:g.206566904T>C	(Likely) benign	1 lab	d8acb1d411
17:44110543 KANSL1 C>T	17	44110543	44110543	C	T	KANSL1	c.2740G>A	NM_015443.3	NP_056258.1:p.(Asp914Asn)	NC_000017.10:g.44110543C>T	(Likely) benign	1 lab	f6c7d7df63
18:72997839 TSHZ1 A>C	18	72997839	72997839	A	C	TSHZ1	c.477A>C	NM_001308210.1	NP_001295139.1:p.(Thr159=)	NC_000018.9:g.72997839A>C	(Likely) benign	1 lab	f6d1754bac
18:55269691 NARS1 C>A	18	55269691	55269691	C	A	NARS1	c.1411G>T	NM_004539.4	NP_004530.1:p.(Glu471Ter)	NC_000018.9:g.55269691C>A	VUS	1 lab	f6d1e9d123
13:86369205 SLITRK6 GA>G	13	86369205	86369211	GA	G	SLITRK6	c.1438del	NM_032229.2	NP_115605.2:p.(Ser480GlnfsTer5)	NC_000013.10:g.86369211del	(Likely) pathogenic	1 lab	f6d2f19143
1:237801742 RYR2 T>C	1	237801742	237801742	T	C	RYR2	c.6878T>C	NM_001035.2	NP_001026.2:p.(Val2293Ala)	NC_000001.10:g.237801742T>C	VUS	1 lab	f6d32dd4a5
2:170136961 LRP2 AG>A	2	170136961	170136962	AG	A	LRP2	c.1239del	NM_004525.3	NP_004516.2:p.(Phe414SerfsTer4)	NC_000002.11:g.170136962del	(Likely) pathogenic	1 lab	f6d3d35107
22:19753348 TBX1 G>A	22	19753348	19753348	G	A	TBX1	c.935G>A	NM_001379200.1	NP_001366129.1:p.(Trp312Ter)	NC_000022.10:g.19753348G>A	(Likely) pathogenic	1 lab	f6d8bc07ba
7:91691751 AKAP9 G>A	7	91691751	91691751	G	A	AKAP9	c.5928G>A	NM_005751.4	NP_005742.4:p.(Leu1976=)	NC_000007.13:g.91691751G>A	(Likely) benign	1 lab	f6d991fce8
3:121712051 ILDR1 A>C	3	121712051	121712051	A	C	ILDR1	c.1545T>G	NM_001199799.1	NP_001186728.1:p.(Leu515=)	NC_000003.11:g.121712051A>C	(Likely) benign	1 lab	f6dc2e567a
6:7226746 RREB1 C>A	6	7226746	7226746	C	A	RREB1	c.754C>A	NM_001003699.4	NP_001003699.1:p.(Arg252Ser)	NC_000006.11:g.7226746C>A	VUS	1 lab	17cfc7a4b2
2:179437855 TTN G>T	2	179437855	179437855	G	T	TTN	c.73004C>A	NM_001267550.2	NP_001254479.2:p.(Thr24335Lys)	NC_000002.11:g.179437855G>T	VUS	1 lab	f6de36cc12
18:28672117 DSC2 T>C	18	28672117	28672117	T	C	DSC2	c.301A>G	NM_024422.4	NP_077740.1:p.(Thr101Ala)	NC_000018.9:g.28672117T>C	(Likely) benign	1 lab	f6de55a433
3:121980821 CASR G>A	3	121980821	121980821	G	A	CASR	c.939G>A	NM_000388.4	NP_000379.3:p.(Val313=)	NC_000003.11:g.121980821G>A	(Likely) benign	1 lab	f6deef5d3b
7:156584689 LMBR1 T>C	7	156584689	156584689	T	C	LMBR1	c.423+4394A>G	NM_022458.3	NP_071903.2:p.?	NC_000007.13:g.156584689T>C	(Likely) benign	1 lab	f6df2aa508
15:66995948 SMAD6 G>T	15	66995948	66995948	G	T	SMAD6	c.352G>T	NM_005585.5	NP_005576.3:p.(Glu118Ter)	NC_000015.9:g.66995948G>T	VUS	1 lab	f6e4f69640
1:43892772 SZT2 C>G	1	43892772	43892772	C	G	SZT2	c.3184C>G	NM_015284.3	NP_056099.3:p.(Pro1062Ala)	NC_000001.10:g.43892772C>G	VUS	1 lab	f6e593c130
14:102499494 DYNC1H1 C>T	14	102499494	102499494	C	T	DYNC1H1	c.10172C>T	NM_001376.5	NP_001367.2:p.(Pro3391Leu)	NC_000014.8:g.102499494C>T	(Likely) pathogenic	1 lab	f6f0c3b731
5:60186741 ERCC8 C>T	5	60186741	60186741	C	T	ERCC8	c.1016G>A	NM_000082.3	NP_000073.1:p.(Cys339Tyr)	NC_000005.9:g.60186741C>T	VUS	1 lab	f6f1ccdc0d
11:76885836 MYO7A G>A	11	76885836	76885836	G	A	MYO7A	c.1970G>A	NM_000260.3	NP_000251.3:p.(Arg657Gln)	NC_000011.9:g.76885836G>A	VUS	1 lab	f6f607a559
22:36661993 APOL1 C>CTGAA	22	36661993	36661997	C	CTGAA	APOL1	c.1112_1115dup	NM_003661.4	NP_003652.2:p.(Lys372AsnfsTer18)	NC_000022.10:g.36661994_36661997dup	VUS	1 lab	f6f73acf08
17:44110532 KANSL1 G>A	17	44110532	44110532	G	A	KANSL1				NC_000017.10:g.44110532G>A	(Likely) benign	1 lab	f78b26d0e9
18:59828450 PIGN A>C	18	59828450	59828450	A	C	PIGN	c.137T>G	NM_176787.5	NP_789744.1:p.(Leu46Ter)	NC_000018.9:g.59828450A>C	(Likely) pathogenic	1 lab	f6f764744c
11:31823252 PAX6 C>T	11	31823252	31823252	C	T	PAX6	c.214G>A	NM_000280.4	NP_000271.1:p.(Gly72Ser)	NC_000011.9:g.31823252C>T	(Likely) pathogenic	1 lab	f6fabdd8f3
1:196205182 KCNT2 T>C	1	196205182	196205182	T	C	KCNT2	c.3230A>G	NM_198503.5	NP_940905.2:p.(Gln1077Arg)	NC_000001.10:g.196205182T>C	VUS	1 lab	17d311be9e
6:108222678 SEC63 G>C	6	108222678	108222678	G	C	SEC63	c.1253C>G	NM_007214.4	NP_009145.1:p.(Ser418Ter)	NC_000006.11:g.108222678G>C	(Likely) pathogenic	1 lab	f6fcaac902
13:23914549 SACS A>G	13	23914549	23914549	A	G	SACS	c.3466T>C	NM_014363.5	NP_055178.3:p.(Trp1156Arg)	NC_000013.10:g.23914549A>G	VUS	1 lab	f6fcc9b993
4:674328 MYL5 C>T	4	674328	674328	C	T	MYL5	c.323C>T	NM_002477.1	NP_002468.1:p.(Ala108Val)	NC_000004.11:g.674328C>T	VUS	1 lab	d8b14738b5
6:152469359 SYNE1 C>T	6	152469359	152469359	C	T	SYNE1	c.24797G>A	NM_182961.3	NP_892006.3:p.(Arg8266Gln)	NC_000006.11:g.152469359C>T	(Likely) benign	1 lab	f700d4db5c
7:99699169 AP4M1 A>T	7	99699169	99699169	A	T	AP4M1	c.-169A>T	NM_004722.3	NP_004713.2:p.?	NC_000007.13:g.99699169A>T	(Likely) benign	1 lab	f702266c3e
18:29101010 DSG2 G>A	18	29101010	29101010	G	A	DSG2	c.379-52G>A	NM_001943.3	NP_001934.2:p.?	NC_000018.9:g.29101010G>A	(Likely) benign	1 lab	f708ab2883
17:29556109 NF1 A>G	17	29556109	29556109	A	G	NF1	c.2476A>G	NM_000267.3	NP_000258.1:p.(Ile826Val)	NC_000017.10:g.29556109A>G	VUS	1 lab	17d61d39c8
6:66417080 EYS T>C	6	66417080	66417080	T	C	EYS	c.-500A>G	NM_001142800.1	NP_001136272.1:p.?	NC_000006.11:g.66417080T>C	(Likely) benign	1 lab	f712ea5393
9:130984755 DNM1 C>T	9	130984755	130984755	C	T	DNM1	c.1008C>T	NM_004408.3	NP_004399.2:p.(Phe336=)	NC_000009.11:g.130984755C>T	(Likely) benign	1 lab	f717038754
14:36986648 NKX2-1 CG>C	14	36986648	36986651	CG	C	NKX2-1	c.1040del	NM_001079668.2	NP_001073136.1:p.(Pro347ArgfsTer34)	NC_000014.8:g.36986651del	(Likely) pathogenic	1 lab	f7197df2a4
4:110662149 CFI CCA>C	4	110662149	110662153	CCA	C	CFI	c.1650_1651del	NM_000204.4	NP_000195.2:p.(Cys550TrpfsTer17)	NC_000004.11:g.110662152_110662153del	(Likely) pathogenic	1 lab	f72111e59d
5:90007264 ADGRV1 A>G	5	90007264	90007264	A	G	ADGRV1	c.9042+125A>G	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.90007264A>G	(Likely) benign	1 lab	18d980e842
3:10183685 VHL G>A	3	10183685	10183685	G	A	VHL	c.154G>A	NM_000551.3	NP_000542.1:p.(Glu52Lys)	NC_000003.11:g.10183685G>A	(Likely) benign	1 lab	f72476bc17
16:136870 MISSING C>G	16	136870	136870	C	G	MISSING				NC_000016.9:g.136870C>G	(Likely) pathogenic	1 lab	f726f77422
5:254636 SDHA C>T	5	254636	254636	C	T	SDHA				NC_000005.9:g.254636C>T	(Likely) benign	1 lab	f72b93f8c0
X:119668410 CUL4B TGA>T	X	119668410	119668412	TGA	T	CUL4B	c.2190_2191del	NM_001079872.2	NP_001073341.1:p.(Phe730LeufsTer9)	NC_000023.10:g.119668411_119668412del	(Likely) pathogenic	1 lab	f72cceabc7
16:56936420 SLC12A3 G>A	16	56936420	56936420	G	A	SLC12A3	c.2883G>A	NM_000339.2	NP_000330.2:p.(Lys961=)	NC_000016.9:g.56936420G>A	VUS	1 lab	f72dd8d5f9
8:61736413 CHD7 G>A	8	61736413	61736413	G	A	CHD7	c.3216G>A	NM_017780.3	NP_060250.2:p.(Lys1072=)	NC_000008.10:g.61736413G>A	(Likely) benign	1 lab	f72e7e97c9
8:11616996 GATA4 C>T	8	11616996	11616996	C	T	GATA4	c.*1012C>T	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11616996C>T	(Likely) benign	1 lab	f73b911ab2
13:32969125 BRCA2 T>C	13	32969125	32969125	T	C	BRCA2	c.9501+55T>C	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32969125T>C	(Likely) benign	1 lab	18dd86095a
14:55326455 GCH1 C>T	14	55326455	55326455	C	T	GCH1	c.454-1G>A	NM_000161.2	NP_000152.1:p.?	NC_000014.8:g.55326455C>T	(Likely) pathogenic	1 lab	f73bf31c36
2:38298139 CYP1B1 T>C	2	38298139	38298139	T	C	CYP1B1	c.1358A>G	NM_000104.3	NP_000095.2:p.(Asn453Ser)	NC_000002.11:g.38298139T>C	(Likely) benign	1 lab	f73c3dfc0d
8:70536419 SULF1 C>A	8	70536419	70536419	C	A	SULF1	c.1837C>A	NM_001128205.2	NP_001121677.1:p.(Arg613=)	NC_000008.10:g.70536419C>A	(Likely) benign	1 lab	17dbfa70b5
17:7750232 KDM6B T>C	17	7750232	7750232	T	C	KDM6B	c.807T>C	NM_001080424.2	NP_001073893.1:p.(Ala269=)	NC_000017.10:g.7750232T>C	(Likely) benign	1 lab	17df1c7eac
17:56774103 RAD51C G>A	17	56774103	56774103	G	A	RAD51C	c.454G>A	NM_058216.2	NP_478123.1:p.(Ala152Thr)	NC_000017.10:g.56774103G>A	(Likely) benign	1 lab	f76a20c661
9:14776178 FREM1 C>T	9	14776178	14776178	C	T	FREM1	c.4466G>A	NM_144966.5	NP_659403.4:p.(Arg1489Gln)	NC_000009.11:g.14776178C>T	(Likely) benign	1 lab	18dee89c6b
8:61748826 CHD7 T>G	8	61748826	61748826	T	G	CHD7				NC_000008.10:g.61748826T>G	(Likely) pathogenic	1 lab	f749cc0bd1
2:47238537 TTC7A T>C	2	47238537	47238537	T	C	TTC7A				NC_000002.11:g.47238537T>C	VUS	1 lab	f7528f52ea
3:37070274 MLH1 G>T	3	37070274	37070274	G	T	MLH1	c.1410-1G>T	NM_000249.3	NP_000240.1:p.?	NC_000003.11:g.37070274G>T	(Likely) pathogenic	1 lab	f752df9602
3:11067499 SLC6A1 G>A	3	11067499	11067499	G	A	SLC6A1	c.890G>A	NM_001348250.1	NP_001335179.1:p.(Gly297Glu)	NC_000003.11:g.11067499G>A	(Likely) pathogenic	1 lab	f755304663
2:220286287 DES GGGGC>G	2	220286287	220286291	GGGGC	G	DES	c.1244+6_1244+9del	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220286288_220286291del	(Likely) benign	1 lab	f756d55af4
2:8926363 KIDINS220 G>A	2	8926363	8926363	G	A	KIDINS220				NC_000002.11:g.8926363G>A	VUS	1 lab	f7576f925f
X:74291428 ABCB7 C>T	X	74291428	74291428	C	T	ABCB7	c.1126G>A	NM_004299.3	NP_004290.2:p.(Ala376Thr)	NC_000023.10:g.74291428C>T	VUS	1 lab	f757c9ec13
4:114294553 ANK2 A>G	4	114294553	114294553	A	G	ANK2	c.11807A>G	NM_001148.5	NP_001139.3:p.(Tyr3936Cys)	NC_000004.11:g.114294553A>G	(Likely) benign	1 lab	f75ae14e78
9:77407636 TRPM6 C>T	9	77407636	77407636	C	T	TRPM6	c.2442G>A	NM_017662.4	NP_060132.3:p.(Gln814=)	NC_000009.11:g.77407636C>T	(Likely) benign	1 lab	f75af76842
2:227872823 COL4A4 G>A	2	227872823	227872823	G	A	COL4A4	c.4720C>T	NM_000092.4	NP_000083.3:p.(Gln1574Ter)	NC_000002.11:g.227872823G>A	(Likely) pathogenic	1 lab	f763b8be54
X:76776930 ATRX CTGTT>C	X	76776930	76776938	CTGTT	C	ATRX	c.7018_7021del	NM_000489.6	NP_000480.3:p.(Asn2340ValfsTer2)	NC_000023.10:g.76776935_76776938del	(Likely) pathogenic	1 lab	f768db02e0
11:119155808 CBL A>G	11	119155808	119155808	A	G	CBL	c.1561A>G	NM_005188.4	NP_005179.2:p.(Lys521Glu)	NC_000011.9:g.119155808A>G	(Likely) benign	1 lab	f769dad9ae
17:37820176 PNMT C>T	17	37820176	37820176	C	T	PNMT				NC_000017.10:g.37820176C>T	(Likely) benign	1 lab	f83b35af34
19:36336613 NPHS1 C>T	19	36336613	36336613	C	T	NPHS1	c.1715G>A	NM_004646.3	NP_004637.1:p.(Ser572Asn)	NC_000019.9:g.36336613C>T	(Likely) pathogenic	1 lab	f76c4ab96d
16:29825769 PRRT2 G>T	16	29825769	29825769	G	T	PRRT2	c.995G>T	NM_145239.3	NP_660282.2:p.(Cys332Phe)	NC_000016.9:g.29825769G>T	VUS	1 lab	f7773b8262
17:41215906 BRCA1 C>A	17	41215906	41215906	C	A	BRCA1	c.5137G>T	NM_007294.4	NP_009225.1:p.(Val1713Leu)	NC_000017.10:g.41215906C>A	VUS	1 lab	f7786635ec
2:47702756 MSH2 G>A	2	47702756	47702756	G	A	MSH2	c.2005+347G>A	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702756G>A	(Likely) benign	1 lab	f77e7c7a41
7:36456752 ANLN AC>A	7	36456752	36456753	AC	A	ANLN	c.1587del	NM_018685.5	NP_061155.2:p.(Asp529GlufsTer4)	NC_000007.13:g.36456753del	VUS	1 lab	f77fd04595
4:110662178 CFI C>A	4	110662178	110662178	C	A	CFI	c.1623G>T	NM_000204.4	NP_000195.2:p.(Trp541Cys)	NC_000004.11:g.110662178C>A	VUS	1 lab	f780ef5f99
15:48707944 FBN1 C>T	15	48707944	48707944	C	T	FBN1	c.7840G>A	NM_000138.5	NP_000129.3:p.(Ala2614Thr)	NC_000015.9:g.48707944C>T	VUS	1 lab	f7814d9b0b
18:3141936 MYOM1 C>A	18	3141936	3141936	C	A	MYOM1	c.2025+1G>T	NM_003803.4	NP_003794.3:p.?	NC_000018.9:g.3141936C>A	VUS	1 lab	f7835c2fcf
12:5021457 KCNA1 C>G	12	5021457	5021457	C	G	KCNA1	c.913C>G	NM_000217.2	NP_000208.2:p.(Leu305Val)	NC_000012.11:g.5021457C>G	(Likely) pathogenic	1 lab	f78553408e
7:4825250 AP5Z1 G>A	7	4825250	4825250	G	A	AP5Z1	c.1067G>A	NM_014855.2	NP_055670.1:p.(Arg356Gln)	NC_000007.13:g.4825250G>A	VUS	1 lab	f7888904b6
17:41244391 BRCA1 C>A	17	41244391	41244391	C	A	BRCA1	c.3157G>T	NM_007294.4	NP_009225.1:p.(Glu1053Ter)	NC_000017.10:g.41244391C>A	(Likely) pathogenic	1 lab	f78ac2a797
1:245027087 HNRNPU G>A	1	245027087	245027087	G	A	HNRNPU				NC_000001.10:g.245027087G>A	(Likely) pathogenic	1 lab	f78add5d1b
7:117188689 CFTR T>A	7	117188689	117188689	T	A	CFTR	c.1210-6T>A	NM_000492.4	NP_000483.3:p.?	NC_000007.13:g.117188689T>A	(Likely) benign	1 lab	17e04e95cd
6:34213296 HMGA1 T>C	6	34213296	34213296	T	C	HMGA1	c.*635T>C	NM_145901.3	NP_665908.1:p.?	NC_000006.11:g.34213296T>C	(Likely) benign	1 lab	17e204b030
17:39919297 JUP T>A	17	39919297	39919297	T	A	JUP	c.1435A>T	NM_002230.3	NP_002221.1:p.(Asn479Tyr)	NC_000017.10:g.39919297T>A	VUS	1 lab	f78eceeb7a
3:37081732 MLH1 G>A	3	37081732	37081732	G	A	MLH1	c.1614G>A	NM_000249.3	NP_000240.1:p.(Trp538Ter)	NC_000003.11:g.37081732G>A	(Likely) pathogenic	1 lab	f78eda9562
20:42788612 JPH2 C>T	20	42788612	42788612	C	T	JPH2	c.815G>A	NM_020433.4	NP_065166.2:p.(Gly272Asp)	NC_000020.10:g.42788612C>T	(Likely) benign	1 lab	f7906f7726
7:91631344 AKAP9 T>G	7	91631344	91631344	T	G	AKAP9	c.2113T>G	NM_005751.4	NP_005742.4:p.(Leu705Val)	NC_000007.13:g.91631344T>G	VUS	1 lab	f7955b11e6
1:216420201 USH2A CA>C	1	216420201	216420202	CA	C	USH2A	c.2534del	NM_206933.4	NP_996816.3:p.(Leu845ArgfsTer11)	NC_000001.10:g.216420202del	(Likely) pathogenic	1 lab	f797552fa6
18:29175178 TTR G>C	18	29175178	29175178	G	C	TTR	c.296G>C	NM_000371.3	NP_000362.1:p.(Trp99Ser)	NC_000018.9:g.29175178G>C	VUS	1 lab	f79786da8f
1:153800488 GATAD2B C>T	1	153800488	153800488	C	T	GATAD2B	c.335+1G>A	NM_020699.2	NP_065750.1:p.?	NC_000001.10:g.153800488C>T	(Likely) pathogenic	1 lab	f799313eb4
15:28090178 OCA2 C>T	15	28090178	28090178	C	T	OCA2	c.2359G>A	NM_000275.3	NP_000266.2:p.(Ala787Thr)	NC_000015.9:g.28090178C>T	(Likely) pathogenic	1 lab	f79bbe1fb3
19:54634843 PRPF31 A>G	19	54634843	54634843	A	G	PRPF31	c.1480A>G	NM_015629.3	NP_056444.3:p.(Ser494Gly)	NC_000019.9:g.54634843A>G	(Likely) benign	1 lab	f79c479592
11:65640204 EFEMP2 C>T	11	65640204	65640204	C	T	EFEMP2	c.-58G>A	NM_016938.4	NP_058634.4:p.?	NC_000011.9:g.65640204C>T	(Likely) benign	1 lab	f79c51c296
6:7862631 BMP6 G>C	6	7862631	7862631	G	C	BMP6	c.1104G>C	NM_001718.5	NP_001709.1:p.(Val368=)	NC_000006.11:g.7862631G>C	(Likely) benign	1 lab	f79cf86ed4
X:70339385 MED12 G>C	X	70339385	70339385	G	C	MED12	c.204+58G>C	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70339385G>C	(Likely) benign	1 lab	18fbcc0e9e
22:51011348 CPT1B G>A	22	51011348	51011348	G	A	CPT1B	c.1308C>T	NM_004377.3	NP_004368.1:p.(Leu436=)	NC_000022.10:g.51011348G>A	(Likely) benign	1 lab	f79f8bc855
15:37242529 MEIS2 T>C	15	37242529	37242529	T	C	MEIS2	c.973A>G	NM_170675.5	NP_733775.1:p.(Asn325Asp)	NC_000015.9:g.37242529T>C	VUS	1 lab	26bf66210c
14:20915760 OSGEP GAA>G	14	20915760	20915763	GAA	G	OSGEP	c.869+12_869+13del	NM_017807.4	NP_060277.1:p.?	NC_000014.8:g.20915762_20915763del	(Likely) benign	1 lab	18e4a28736
X:153596024 FLNA C>G	X	153596024	153596024	C	G	FLNA	c.705G>C	NM_001110556.1	NP_001104026.1:p.(Trp235Cys)	NC_000023.10:g.153596024C>G	VUS	1 lab	f7a3987575
8:102678842 GRHL2 A>G	8	102678842	102678842	A	G	GRHL2	c.1789A>G	NM_024915.3	NP_079191.2:p.(Ile597Val)	NC_000008.10:g.102678842A>G	VUS	1 lab	f7a6f1fd83
2:179406301 TTN T>A	2	179406301	179406301	T	A	TTN	c.97503A>T	NM_001267550.2	NP_001254479.2:p.(Gly32501=)	NC_000002.11:g.179406301T>A	(Likely) benign	1 lab	f7a9d26a5e
4:39501825 UGDH G>A	4	39501825	39501825	G	A	UGDH	c.1423C>T	NM_003359.4	NP_003350.1:p.(Pro475Ser)	NC_000004.11:g.39501825G>A	(Likely) benign	1 lab	17e46afd74
7:50444306 MISSING C>T	7	50444306	50444306	C	T	MISSING				NC_000007.13:g.50444306C>T	VUS	1 lab	f7ae1a859c
2:99013218 CNGA3 G>A	2	99013218	99013218	G	A	CNGA3	c.1585G>A	NM_001298.3	NP_001289.1:p.(Val529Met)	NC_000002.11:g.99013218G>A	(Likely) pathogenic	1 lab	f7ae3c2685
X:70339563 MED12 G>A	X	70339563	70339563	G	A	MED12	c.232G>A	NM_005120.2	NP_005111.2:p.(Ala78Thr)	NC_000023.10:g.70339563G>A	(Likely) benign	1 lab	f7af8693c5
19:35521791 SCN1B C>T	19	35521791	35521791	C	T	SCN1B	c.40+27C>T	NM_001037.4	NP_001028.1:p.?	NC_000019.9:g.35521791C>T	(Likely) benign	1 lab	f7b1ba363d
19:13414644 CACNA1A C>A	19	13414644	13414644	C	A	CACNA1A	c.2041G>T	NM_001127222.2	NP_001120694.1:p.(Gly681Trp)	NC_000019.9:g.13414644C>A	(Likely) pathogenic	1 lab	f7b326742d
19:39023318 RYR1 A>G	19	39023318	39023318	A	G	RYR1	c.11201A>G	NM_000540.3	NP_000531.2:p.(His3734Arg)	NC_000019.9:g.39023318A>G	VUS	1 lab	f7b44ddd1f
9:140061977 GRIN1 T>G	9	140061977	140061977	T	G	GRIN1	c.2815T>G	NM_007327.3	NP_015566.1:p.(Ter939GlyextTer71)	NC_000009.11:g.140061977T>G	(Likely) pathogenic	1 lab	f7b44eff59
16:89345787 ANKRD11 C>T	16	89345787	89345787	C	T	ANKRD11	c.7163G>A	NM_013275.6	NP_037407.4:p.(Arg2388His)	NC_000016.9:g.89345787C>T	VUS	1 lab	17e57c5dad
13:32900279 BRCA2 A>T	13	32900279	32900279	A	T	BRCA2	c.467A>T	NM_000059.3	NP_000050.2:p.(Asp156Val)	NC_000013.10:g.32900279A>T	(Likely) benign	1 lab	f7b9efe94c
5:140908832 DIAPH1 A>C	5	140908832	140908832	A	C	DIAPH1	c.2685T>G	NM_005219.5	NP_005210.3:p.(Ile895Met)	NC_000005.9:g.140908832A>C	VUS	1 lab	17ea3c73b3
3:38783808 SCN10A C>T	3	38783808	38783808	C	T	SCN10A	c.2080G>A	NM_006514.3	NP_006505.3:p.(Glu694Lys)	NC_000003.11:g.38783808C>T	(Likely) benign	1 lab	f7ba74a79f
2:73675948 MISSING C>G	2	73675948	73675948	C	G	MISSING				NC_000002.11:g.73675948C>G	(Likely) pathogenic	1 lab	f89252ec3d
15:43906176 STRC G>A	15	43906176	43906176	G	A	STRC	c.2389C>T	NM_153700.2	NP_714544.1:p.(Gln797Ter)	NC_000015.9:g.43906176G>A	(Likely) pathogenic	1 lab	f7bac2e7ac
18:72997677 TSHZ1 C>T	18	72997677	72997677	C	T	TSHZ1				NC_000018.9:g.72997677C>T	(Likely) benign	1 lab	f7bc9aa644
17:74536287 PRCD C>T	17	74536287	74536287	C	T	PRCD	c.64C>T	NM_001077620.2	NP_001071088.1:p.(Arg22Ter)	NC_000017.10:g.74536287C>T	(Likely) pathogenic	1 lab	f7bd162ae1
6:112506450 LAMA4 AT>A	6	112506450	112506452	AT	A	LAMA4	c.1065del	NM_001105206.2	NP_001098676.2:p.(Glu355AspfsTer2)	NC_000006.11:g.112506452del	VUS	1 lab	f7bda52c5b
8:55534786 RP1 GA>G	8	55534786	55534787	GA	G	RP1	c.726del	NM_006269.1	NP_006260.1:p.(Arg242SerfsTer22)	NC_000008.10:g.55534787del	(Likely) pathogenic	1 lab	f7c2633e23
18:19383888 MIB1 C>T	18	19383888	19383888	C	T	MIB1	c.1392C>T	NM_020774.3	NP_065825.1:p.(Gly464=)	NC_000018.9:g.19383888C>T	(Likely) benign	1 lab	f7c673b93c
11:68171166 LRP5 C>T	11	68171166	68171166	C	T	LRP5	c.1800C>T	NM_002335.3	NP_002326.2:p.(Val600=)	NC_000011.9:g.68171166C>T	(Likely) benign	1 lab	f7c9b0404d
19:1206943 STK11 A>T	19	1206943	1206943	A	T	STK11	c.31A>T	NM_000455.5	NP_000446.1:p.(Met11Leu)	NC_000019.9:g.1206943A>T	(Likely) benign	1 lab	f7cc0fccfd
9:101894916 TGFBR1 C>T	9	101894916	101894916	C	T	TGFBR1	c.469C>T	NM_004612.4	NP_004603.1:p.(Arg157Ter)	NC_000009.11:g.101894916C>T	(Likely) pathogenic	1 lab	f7d1b3f263
2:215674295 BARD1 G>T	2	215674295	215674295	G	T	BARD1	c.-2C>A	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215674295G>T	(Likely) benign	1 lab	f7d44a348b
1:156849882 NTRK1 T>C	1	156849882	156849882	T	C	NTRK1	c.2138T>C	NM_002529.3	NP_002520.2:p.(Phe713Ser)	NC_000001.10:g.156849882T>C	VUS	1 lab	f7d5dc4592
1:94473281 ABCA4 C>T	1	94473281	94473281	C	T	ABCA4	c.5914G>A	NM_000350.2	NP_000341.2:p.(Gly1972Arg)	NC_000001.10:g.94473281C>T	(Likely) pathogenic	1 lab	f7d7cca4ad
3:137822444 DZIP1L G>A	3	137822444	137822444	G	A	DZIP1L	c.370C>T	NM_173543.3	NP_775814.2:p.(Arg124Cys)	NC_000003.11:g.137822444G>A	VUS	1 lab	f7d7d85043
16:8895758 PMM2 G>C	16	8895758	8895758	G	C	PMM2	c.169G>C	NM_000303.2	NP_000294.1:p.(Gly57Arg)	NC_000016.9:g.8895758G>C	(Likely) pathogenic	1 lab	f7d9caceda
6:30889951 VARS2 T>C	6	30889951	30889951	T	C	VARS2	c.1955T>C	NM_001167734.1	NP_001161206.1:p.(Leu652Pro)	NC_000006.11:g.30889951T>C	VUS	1 lab	f7d9fca255
2:47705659 MSH2 G>T	2	47705659	47705659	G	T	MSH2	c.2458+1G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47705659G>T	(Likely) pathogenic	1 lab	187c5cebe7
18:28660247 DSC2 T>G	18	28660247	28660247	T	G	DSC2	c.1335A>C	NM_024422.4	NP_077740.1:p.(Arg445Ser)	NC_000018.9:g.28660247T>G	(Likely) benign	1 lab	f7da5f4a53
17:54939958 DGKE G>A	17	54939958	54939958	G	A	DGKE	c.1525-15G>A	NM_003647.2	NP_003638.1:p.?	NC_000017.10:g.54939958G>A	(Likely) benign	1 lab	f7e4935ab3
2:44190687 LRPPRC T>A	2	44190687	44190687	T	A	LRPPRC	c.1488+40A>T	NM_133259.4	NP_573566.2:p.?	NC_000002.11:g.44190687T>A	(Likely) benign	1 lab	17eb9ed29e
11:709610 EPS8L2 T>G	11	709610	709610	T	G	EPS8L2	c.100+2T>G	NM_022772.3	NP_073609.2:p.?	NC_000011.9:g.709610T>G	(Likely) pathogenic	1 lab	f7e87b932d
10:92677483 ANKRD1 A>T	10	92677483	92677483	A	T	ANKRD1	c.552+6T>A	NM_014391.2	NP_055206.2:p.?	NC_000010.10:g.92677483A>T	(Likely) benign	1 lab	f7e8acff09
6:35471403 TULP1 C>T	6	35471403	35471403	C	T	TULP1	c.1256G>A	NM_003322.6	NP_003313.3:p.(Arg419Gln)	NC_000006.11:g.35471403C>T	(Likely) pathogenic	1 lab	f7e8e3f3d1
2:32312667 SPAST T>C	2	32312667	32312667	T	C	SPAST	c.502+20T>C	NM_014946.3	NP_055761.2:p.?	NC_000002.11:g.32312667T>C	(Likely) benign	1 lab	f7ea1eb6cb
12:116424290 MED13L C>T	12	116424290	116424290	C	T	MED13L	c.4119G>A	NM_015335.4	NP_056150.1:p.(Ser1373=)	NC_000012.11:g.116424290C>T	(Likely) benign	1 lab	f7ebe9eea0
21:43809092 TMPRSS3 C>T	21	43809092	43809092	C	T	TMPRSS3	c.268G>A	NM_024022.2	NP_076927.1:p.(Ala90Thr)	NC_000021.8:g.43809092C>T	(Likely) benign	1 lab	f7eedcd9e7
10:95518781 LGI1 A>G	10	95518781	95518781	A	G	LGI1	c.287+193A>G	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95518781A>G	(Likely) benign	1 lab	18e857c5bb
1:156834561 NTRK1 C>A	1	156834561	156834561	C	A	NTRK1	c.329C>A	NM_002529.3	NP_002520.2:p.(Ala110Asp)	NC_000001.10:g.156834561C>A	(Likely) pathogenic	1 lab	f7f2fc4f04
3:52443729 BAP1 C>A	3	52443729	52443729	C	A	BAP1	c.67+1G>T	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52443729C>A	(Likely) pathogenic	1 lab	f7f5e643c8
17:33446620 RAD51D T>A	17	33446620	33446620	T	A	RAD51D	c.13A>T	NM_002878.4	NP_002869.3:p.(Arg5Trp)	NC_000017.10:g.33446620T>A	VUS	1 lab	f7f71ed9ea
4:79391020 FRAS1 C>T	4	79391020	79391020	C	T	FRAS1	c.7258-112C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79391020C>T	(Likely) benign	1 lab	18e8e3b0f5
5:7885782 MTRR A>AT	5	7885782	7885794	A	AT	MTRR	c.904-20dup	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7885794dup	(Likely) benign	1 lab	17f07a9000
16:23646911 PALB2 G>T	16	23646911	23646911	G	T	PALB2	c.956C>A	NM_024675.3	NP_078951.2:p.(Ser319Tyr)	NC_000016.9:g.23646911G>T	(Likely) benign	1 lab	f7fec09e8e
2:179397080 TTN C>T	2	179397080	179397080	C	T	TTN	c.104262G>A	NM_001267550.2	NP_001254479.2:p.(Ala34754=)	NC_000002.11:g.179397080C>T	(Likely) benign	1 lab	17f1497269
12:6184680 VWF G>A	12	6184680	6184680	G	A	VWF	c.695C>T	NM_000552.3	NP_000543.2:p.(Ser232Leu)	NC_000012.11:g.6184680G>A	VUS	1 lab	f8022be15b
3:50385819 NPRL2 G>A	3	50385819	50385819	G	A	NPRL2	c.743C>T	NM_006545.5	NP_006536.3:p.(Thr248Met)	NC_000003.11:g.50385819G>A	VUS	1 lab	f8056f7645
3:47889727 DHX30 C>T	3	47889727	47889727	C	T	DHX30	c.2227C>T	NM_014966.3	NP_055781.2:p.(Arg743Trp)	NC_000003.11:g.47889727C>T	VUS	1 lab	f8092760c2
7:128630032 TNPO3 C>T	7	128630032	128630032	C	T	TNPO3				NC_000007.13:g.128630032C>T	VUS	1 lab	f8093ecdfe
2:170150671 LRP2 G>A	2	170150671	170150671	G	A	LRP2	c.639C>T	NM_004525.2	NP_004516.2:p.(Asp213=)	NC_000002.11:g.170150671G>A	(Likely) benign	1 lab	f80a38c2c9
15:63335233 TPM1 G>A	15	63335233	63335233	G	A	TPM1	c.114+91G>A	NM_001018005.1	NP_001018005.1:p.?	NC_000015.9:g.63335233G>A	(Likely) benign	1 lab	f80de9fa5f
3:48612842 COL7A1 C>T	3	48612842	48612842	C	T	COL7A1	c.6110G>A	NM_000094.3	NP_000085.1:p.(Gly2037Glu)	NC_000003.11:g.48612842C>T	(Likely) pathogenic	1 lab	f813bcfece
4:26431640 RBPJ C>A	4	26431640	26431640	C	A	RBPJ	c.1048C>A	NM_005349.4	NP_005340.2:p.(Pro350Thr)	NC_000004.11:g.26431640C>A	VUS	1 lab	17f1a93a46
11:108121562 ATM G>T	11	108121562	108121562	G	T	ATM	c.1370G>T	NM_000051.4	NP_000042.3:p.(Arg457Leu)	NC_000011.9:g.108121562G>T	VUS	1 lab	17f3504048
10:75871804 VCL G>A	10	75871804	75871804	G	A	VCL	c.2883G>A	NM_014000.2	NP_054706.1:p.(Pro961=)	NC_000010.10:g.75871804G>A	(Likely) benign	1 lab	f818deb55b
2:166164403 SCN2A A>G	2	166164403	166164403	A	G	SCN2A	c.432A>G	NM_021007.3	NP_066287.2:p.(Val144=)	NC_000002.11:g.166164403A>G	(Likely) benign	1 lab	18eb4c06ad
X:47434413 SYN1 G>A	X	47434413	47434413	G	A	SYN1	c.1305+114C>T	NM_006950.3	NP_008881.2:p.?	NC_000023.10:g.47434413G>A	(Likely) benign	1 lab	18eebdf4a7
X:130413298 IGSF1 C>T	X	130413298	130413298	C	T	IGSF1	c.1664G>A	NM_001555.5	NP_001546.2:p.(Gly555Glu)	NC_000023.10:g.130413298C>T	VUS	1 lab	f81f735750
4:103500049 NFKB1 G>T	4	103500049	103500049	G	T	NFKB1	c.583G>T	NM_003998.3	NP_003989.2:p.(Glu195Ter)	NC_000004.11:g.103500049G>T	(Likely) pathogenic	1 lab	f821a1fc69
1:169510118 F5 G>A	1	169510118	169510118	G	A	F5	c.4210C>T	NM_000130.4	NP_000121.2:p.(Pro1404Ser)	NC_000001.10:g.169510118G>A	(Likely) benign	1 lab	f8230ea378
7:4828593 AP5Z1 T>C	7	4828593	4828593	T	C	AP5Z1				NC_000007.13:g.4828593T>C	(Likely) benign	1 lab	f824001d16
6:7583728 DSP T>C	6	7583728	7583728	T	C	DSP	c.6233T>C	NM_004415.3	NP_004406.2:p.(Ile2078Thr)	NC_000006.11:g.7583728T>C	VUS	1 lab	f8251fba41
10:50819872 SLC18A3 TG>T	10	50819872	50819875	TG	T	SLC18A3	c.1089del	NM_003055.3	NP_003046.2:p.(Leu364TrpfsTer3)	NC_000010.10:g.50819875del	(Likely) pathogenic	1 lab	f82bbf8577
9:130580499 ENG C>G	9	130580499	130580499	C	G	ENG	c.1586G>C	NM_000118.3	NP_000109.1:p.(Arg529Pro)	NC_000009.11:g.130580499C>G	VUS	1 lab	18f7c3cbbb
11:130068491 ST14 G>C	11	130068491	130068491	G	C	ST14	c.1659G>C	NM_021978.4	NP_068813.1:p.(Gly553=)	NC_000011.9:g.130068491G>C	(Likely) benign	1 lab	18f8d57631
5:112175598 APC GT>G	5	112175598	112175599	GT	G	APC	c.4308del	NM_000038.6	NP_000029.2:p.(Ser1436ArgfsTer37)	NC_000005.9:g.112175599del	(Likely) pathogenic	1 lab	f8364db788
1:152280597 FLG A>G	1	152280597	152280597	A	G	FLG	c.6765T>C	NM_002016.1	NP_002007.1:p.(Asp2255=)	NC_000001.10:g.152280597A>G	(Likely) benign	1 lab	f8365885f8
11:47357515 MYBPC3 T>G	11	47357515	47357515	T	G	MYBPC3	c.2650A>C	NM_000256.3	NP_000247.2:p.(Thr884Pro)	NC_000011.9:g.47357515T>G	VUS	1 lab	f837f61664
8:90993001 NBN G>A	8	90993001	90993001	G	A	NBN	c.441C>T	NM_002485.4	NP_002476.2:p.(Cys147=)	NC_000008.10:g.90993001G>A	(Likely) benign	1 lab	18f8f2952c
17:32953782 TMEM132E C>A	17	32953782	32953782	C	A	TMEM132E	c.704C>A	NM_001304438.1	NP_001291367.1:p.(Thr235Lys)	NC_000017.10:g.32953782C>A	VUS	1 lab	f83e47b03d
7:155604650 SHH AGGGTCTTCTCGGCCACATT>A	7	155604650	155604672	AGGGTCTTCTCGGCCACATT	A	SHH	c.148_166del	NM_000193.3	NP_000184.1:p.(Asn50Ter)	NC_000007.13:g.155604654_155604672del	(Likely) pathogenic	1 lab	f83ecba4ba
12:80799858 MISSING A>G	12	80799858	80799858	A	G	MISSING				NC_000012.11:g.80799858A>G	(Likely) benign	1 lab	f84206ab53
3:33093480 GLB1 T>C	3	33093480	33093480	T	C	GLB1	c.809A>G	NM_000404.2	NP_000395.2:p.(Tyr270Cys)	NC_000003.11:g.33093480T>C	VUS	1 lab	f844824f56
20:45354318 SLC2A10 C>T	20	45354318	45354318	C	T	SLC2A10	c.643C>T	NM_030777.3	NP_110404.1:p.(Arg215Trp)	NC_000020.10:g.45354318C>T	VUS	1 lab	f846ee3072
9:109685867 ZNF462 T>C	9	109685867	109685867	T	C	ZNF462	c.203T>C	NM_021224.6	NP_067047.4:p.(Ile68Thr)	NC_000009.11:g.109685867T>C	(Likely) benign	1 lab	17fe7e577d
9:140710397 EHMT1 A>G	9	140710397	140710397	A	G	EHMT1	c.3259-2A>G	NM_024757.4	NP_079033.4:p.?	NC_000009.11:g.140710397A>G	(Likely) pathogenic	1 lab	f84810db09
11:76924953 MYO7A G>A	11	76924953	76924953	G	A	MYO7A	c.6487G>A	NM_000260.3	NP_000251.3:p.(Gly2163Ser)	NC_000011.9:g.76924953G>A	(Likely) pathogenic	1 lab	f84b7ce47e
5:176720907 NSD1 A>G	5	176720907	176720907	A	G	NSD1	c.6538A>G	NM_022455.4	NP_071900.2:p.(Ser2180Gly)	NC_000005.9:g.176720907A>G	(Likely) benign	1 lab	f84c75eea2
19:1221239 STK11 C>G	19	1221239	1221239	C	G	STK11	c.762C>G	NM_000455.5	NP_000446.1:p.(Pro254=)	NC_000019.9:g.1221239C>G	(Likely) benign	1 lab	f84cc04264
X:107869429 COL4A5 A>T	X	107869429	107869429	A	T	COL4A5	c.3107-11A>T	NM_033380.2	NP_203699.1:p.?	NC_000023.10:g.107869429A>T	(Likely) benign	1 lab	f84e0b55ce
14:31590599 HECTD1 A>G	14	31590599	31590599	A	G	HECTD1	c.5228T>C	NM_015382.4	NP_056197.3:p.(Ile1743Thr)	NC_000014.8:g.31590599A>G	VUS	1 lab	17ff1698a9
9:5022213 JAK2 G>T	9	5022213	5022213	G	T	JAK2	c.226G>T	NM_004972.4	NP_004963.1:p.(Gly76Cys)	NC_000009.11:g.5022213G>T	VUS	1 lab	f8a946fca7
2:47698258 MSH2 G>T	2	47698258	47698258	G	T	MSH2	c.1759+57G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47698258G>T	(Likely) benign	1 lab	f853826bf3
1:41296938 KCNQ4 G>A	1	41296938	41296938	G	A	KCNQ4	c.1475G>A	NM_004700.3	NP_004691.2:p.(Arg492Gln)	NC_000001.10:g.41296938G>A	VUS	1 lab	f856f99262
1:228526693 OBSCN C>T	1	228526693	228526693	C	T	OBSCN	c.20095C>T	NM_001271223.2	NP_001258152.2:p.(Arg6699Cys)	NC_000001.10:g.228526693C>T	(Likely) benign	1 lab	f85967574a
7:103290771 RELN C>T	7	103290771	103290771	C	T	RELN	c.1952G>A	NM_005045.3	NP_005036.2:p.(Arg651His)	NC_000007.13:g.103290771C>T	VUS	1 lab	f859c254b6
2:179515519 TTN G>A	2	179515519	179515519	G	A	TTN	c.39668C>T	NM_001267550.2	NP_001254479.2:p.(Ala13223Val)	NC_000002.11:g.179515519G>A	(Likely) benign	1 lab	f85a16de25
2:48063132 FBXO11 A>G	2	48063132	48063132	A	G	FBXO11	c.596T>C	NM_001190274.1	NP_001177203.1:p.(Leu199Ser)	NC_000002.11:g.48063132A>G	VUS	1 lab	f85f990aa0
1:76200559 ACADM G>C	1	76200559	76200559	G	C	ACADM	c.480+3G>C	NM_001127328.1	NP_001120800.1:p.?	NC_000001.10:g.76200559G>C	(Likely) pathogenic	1 lab	f866b72bc2
11:117266404 CEP164 C>T	11	117266404	117266404	C	T	CEP164	c.3055C>T	NM_014956.5	NP_055771.4:p.(Gln1019Ter)	NC_000011.9:g.117266404C>T	(Likely) pathogenic	1 lab	f867167c7d
2:227953368 COL4A4 C>T	2	227953368	227953368	C	T	COL4A4	c.1623+1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227953368C>T	(Likely) pathogenic	1 lab	f867f758e5
21:46914479 COL18A1 A>AC	21	46914479	46914484	A	AC	COL18A1	c.2378dup	NM_001379500.1	NP_001366429.1:p.(Pro795SerfsTer69)	NC_000021.8:g.46914484dup	(Likely) pathogenic	1 lab	1802d60534
6:21594830 SOX4 C>A	6	21594830	21594830	C	A	SOX4	c.65C>A	NM_003107.3	NP_003098.1:p.(Ser22Ter)	NC_000006.11:g.21594830C>A	(Likely) pathogenic	1 lab	f86a2bb3fb
4:119203221 PRSS12 C>T	4	119203221	119203221	C	T	PRSS12	c.2498G>A	NM_003619.3	NP_003610.2:p.(Arg833Gln)	NC_000004.11:g.119203221C>T	(Likely) benign	1 lab	f86d2802b7
12:89885741 POC1B G>A	12	89885741	89885741	G	A	POC1B	c.424C>T	NM_172240.3	NP_758440.1:p.(Arg142Ter)	NC_000012.11:g.89885741G>A	(Likely) pathogenic	1 lab	f872baf520
12:6128668 VWF G>A	12	6128668	6128668	G	A	VWF	c.3916C>T	NM_000552.3	NP_000543.2:p.(Arg1306Trp)	NC_000012.11:g.6128668G>A	(Likely) pathogenic	1 lab	f872d7b81c
3:48610345 COL7A1 G>A	3	48610345	48610345	G	A	COL7A1	c.6781C>T	NM_000094.3	NP_000085.1:p.(Arg2261Ter)	NC_000003.11:g.48610345G>A	(Likely) pathogenic	1 lab	f874526d8e
12:9016403 A2ML1 C>T	12	9016403	9016403	C	T	A2ML1	c.3516C>T	NM_144670.4	NP_653271.2:p.(Tyr1172=)	NC_000012.11:g.9016403C>T	(Likely) benign	1 lab	f876eeea96
2:179407002 TTN C>T	2	179407002	179407002	C	T	TTN	c.97481G>A	NM_001267550.2	NP_001254479.2:p.(Arg32494His)	NC_000002.11:g.179407002C>T	VUS	1 lab	f8781869b6
11:46726613 ZNF408 C>T	11	46726613	46726613	C	T	ZNF408	c.1363C>T	NM_024741.2	NP_079017.1:p.(His455Tyr)	NC_000011.9:g.46726613C>T	VUS	1 lab	f882147e29
19:5131104 KDM4B C>CTGCG	19	5131104	5131108	C	CTGCG	KDM4B	c.1334_1337dup	NM_015015.3	NP_055830.1:p.(Pro447AlafsTer62)	NC_000019.9:g.5131105_5131108dup	VUS	1 lab	f882a1f844
5:90020777 ADGRV1 C>T	5	90020777	90020777	C	T	ADGRV1	c.9877C>T	NM_032119.3	NP_115495.3:p.(Arg3293Ter)	NC_000005.9:g.90020777C>T	(Likely) pathogenic	1 lab	f883e64ef7
19:6713275 C3 C>T	19	6713275	6713275	C	T	C3	c.928G>A	NM_000064.2	NP_000055.2:p.(Gly310Arg)	NC_000019.9:g.6713275C>T	VUS	1 lab	f8843d494a
2:234669451 UGT1A1 A>T	2	234669451	234669451	A	T	UGT1A1	c.518A>T	NM_000463.3	NP_000454.1:p.(His173Leu)	NC_000002.11:g.234669451A>T	VUS	1 lab	f885048bef
7:75615481 POR A>G	7	75615481	75615481	A	G	POR	c.1820A>G	NM_000941.3	NP_000932.3:p.(Tyr607Cys)	NC_000007.13:g.75615481A>G	(Likely) pathogenic	1 lab	f8860b8611
6:152748801 SYNE1 T>A	6	152748801	152748801	T	A	SYNE1	c.5100+27A>T	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152748801T>A	(Likely) benign	1 lab	f8861dcd52
2:73717247 ALMS1 C>T	2	73717247	73717247	C	T	ALMS1	c.8164C>T	NM_015120.4	NP_055935.4:p.(Arg2722Ter)	NC_000002.11:g.73717247C>T	(Likely) pathogenic	1 lab	f886270678
11:121008200 TECTA C>G	11	121008200	121008200	C	G	TECTA	c.3012C>G	NM_005422.2	NP_005413.2:p.(Thr1004=)	NC_000011.9:g.121008200C>G	(Likely) benign	1 lab	f89177794f
12:110566841 IFT81 T>C	12	110566841	110566841	T	C	IFT81	c.335T>C	NM_014055.4	NP_054774.2:p.(Leu112Pro)	NC_000012.11:g.110566841T>C	VUS	1 lab	f891f61df2
4:6302545 WFS1 C>T	4	6302545	6302545	C	T	WFS1	c.1023C>T	NM_006005.3	NP_005996.2:p.(Phe341=)	NC_000004.11:g.6302545C>T	(Likely) benign	1 lab	f8946b778f
X:153993753 DKC1 C>G	X	153993753	153993753	C	G	DKC1	c.119C>G	NM_001363.3	NP_001354.1:p.(Pro40Arg)	NC_000023.10:g.153993753C>G	(Likely) pathogenic	1 lab	f895bcee10
5:138858066 STING1 T>C	5	138858066	138858066	T	C	STING1	c.548A>G	NM_198282.4	NP_938023.1:p.(Asn183Ser)	NC_000005.9:g.138858066T>C	(Likely) benign	1 lab	1903dbda6f
19:41787113 HNRNPUL1 C>A	19	41787113	41787113	C	A	HNRNPUL1	c.932C>A	NM_007040.5	NP_008971.2:p.(Ser311Tyr)	NC_000019.9:g.41787113C>A	VUS	1 lab	f898c1538a
19:919563 KISS1R T>C	19	919563	919563	T	C	KISS1R	c.443T>C	NM_032551.5	NP_115940.2:p.(Leu148Ser)	NC_000019.9:g.919563T>C	(Likely) pathogenic	1 lab	f89a5408e6
19:35530095 SCN1B G>A	19	35530095	35530095	G	A	SCN1B	c.523G>A	NM_001037.4	NP_001028.1:p.(Val175Met)	NC_000019.9:g.35530095G>A	(Likely) benign	1 lab	f89a88193e
9:101073484 GABBR2 C>T	9	101073484	101073484	C	T	GABBR2	c.1897G>A	NM_005458.7	NP_005449.5:p.(Asp633Asn)	NC_000009.11:g.101073484C>T	VUS	1 lab	f89efa4d94
2:227973297 COL4A4 C>T	2	227973297	227973297	C	T	COL4A4	c.735G>A	NM_000092.4	NP_000083.3:p.(Pro245=)	NC_000002.11:g.227973297C>T	VUS	1 lab	f89fcb1fa1
17:41215881 BRCA1 T>C	17	41215881	41215881	T	C	BRCA1	c.5152+10A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215881T>C	(Likely) benign	1 lab	f8a09599ae
5:236760 SDHA C>A	5	236760	236760	C	A	SDHA	c.1432+46C>A	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.236760C>A	(Likely) benign	1 lab	f8a20de5e1
11:47360206 MYBPC3 C>A	11	47360206	47360206	C	A	MYBPC3	c.2173G>T	NM_000256.3	NP_000247.2:p.(Val725Phe)	NC_000011.9:g.47360206C>A	(Likely) pathogenic	1 lab	f8a7fba16f
2:136608746 MCM6 C>G	2	136608746	136608746	C	G	MCM6	c.1917+226G>C	NM_005915.5	NP_005906.2:p.?	NC_000002.11:g.136608746C>G	(Likely) benign	1 lab	f8aa7bf22a
3:38595820 SCN5A G>T	3	38595820	38595820	G	T	SCN5A	c.4763C>A	NM_198056.2	NP_932173.1:p.(Thr1588Asn)	NC_000003.11:g.38595820G>T	VUS	1 lab	f8ab230118
2:47645249 MSH2 G>T	2	47645249	47645249	G	T	MSH2	c.1076+1681G>T	NM_000251.2	NP_000242.1:p.?	NC_000002.11:g.47645249G>T	(Likely) benign	1 lab	f8ab50ebd3
X:135291446 FHL1 A>G	X	135291446	135291446	A	G	FHL1	c.733A>G	NM_001159702.2	NP_001153174.1:p.(Arg245Gly)	NC_000023.10:g.135291446A>G	VUS	1 lab	f8ac237789
2:48066820 FBXO11 CAA>C	2	48066820	48066824	CAA	C	FBXO11	c.319_320del	NM_001190274.2	NP_001177203.1:p.(Leu107AlafsTer45)	NC_000002.11:g.48066823_48066824del	(Likely) pathogenic	1 lab	f8ad526137
15:99645622 SYNM G>C	15	99645622	99645622	G	C	SYNM	c.217G>C	NM_145728.2	NP_663780.2:p.(Glu73Gln)	NC_000015.9:g.99645622G>C	VUS	1 lab	f8ae78167e
15:72104382 NR2E3 TGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCAC>T	15	72104382	72104419	TGGTGGCTCCCCCGGCCCCGGCAGGGCGCAGCCCAC	T	NR2E3	c.440_474del	NM_014249.2	NP_055064.1:p.(Val147GlyfsTer23)	NC_000015.9:g.72104385_72104419del	(Likely) pathogenic	1 lab	f8af7c1924
1:152286002 FLG T>C	1	152286002	152286002	T	C	FLG	c.1360A>G	NM_002016.1	NP_002007.1:p.(Thr454Ala)	NC_000001.10:g.152286002T>C	(Likely) benign	1 lab	f8b1e1f824
1:43395562 SLC2A1 C>A	1	43395562	43395562	C	A	SLC2A1	c.661G>T	NM_006516.2	NP_006507.2:p.(Glu221Ter)	NC_000001.10:g.43395562C>A	(Likely) pathogenic	1 lab	f8b6ef4007
3:169482630 TERC C>A	3	169482630	169482630	C	A	TERC	n.219G>T	NR_001566.1		NC_000003.11:g.169482630C>A	VUS	1 lab	180758afda
18:19378046 MIB1 CTT>C	18	19378046	19378049	CTT	C	MIB1	c.1096_1097del	NM_020774.2	NP_065825.1:p.(Leu366ArgfsTer2)	NC_000018.9:g.19378048_19378049del	VUS	1 lab	f8be02e1fd
1:241663736 FH C>T	1	241663736	241663736	C	T	FH	c.1390+1G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241663736C>T	(Likely) pathogenic	1 lab	f8be52f740
16:20360451 UMOD C>T	16	20360451	20360451	C	T	UMOD	c.172G>A	NM_003361.2	NP_003352.2:p.(Gly58Ser)	NC_000016.9:g.20360451C>T	VUS	1 lab	f8c6af34c7
11:124738811 ROBO3 C>T	11	124738811	124738811	C	T	ROBO3	c.274C>T	NM_022370.4	NP_071765.2:p.(Arg92Ter)	NC_000011.9:g.124738811C>T	(Likely) pathogenic	1 lab	f8cbeda666
17:12897797 ELAC2 G>T	17	12897797	12897797	G	T	ELAC2	c.2053C>A	NM_018127.7	NP_060597.4:p.(His685Asn)	NC_000017.10:g.12897797G>T	(Likely) pathogenic	1 lab	f8cd397861
14:102452525 DYNC1H1 G>A	14	102452525	102452525	G	A	DYNC1H1	c.1963G>A	NM_001376.4	NP_001367.2:p.(Asp655Asn)	NC_000014.8:g.102452525G>A	VUS	1 lab	f8cff134aa
10:104814180 CNNM2 A>G	10	104814180	104814180	A	G	CNNM2	c.1860A>G	NM_017649.5	NP_060119.3:p.(Ile620Met)	NC_000010.10:g.104814180A>G	VUS	1 lab	180acc9df3
20:44052992 PIGT G>A	20	44052992	44052992	G	A	PIGT	c.1371G>A	NM_015937.6	NP_057021.2:p.(Thr457=)	NC_000020.10:g.44052992G>A	(Likely) benign	1 lab	180df2feda
7:81689803 CACNA2D1 T>C	7	81689803	81689803	T	C	CACNA2D1	c.820A>G	NM_000722.3	NP_000713.2:p.(Thr274Ala)	NC_000007.13:g.81689803T>C	VUS	1 lab	f8d24c00ae
14:64625407 SYNE2 A>G	14	64625407	64625407	A	G	SYNE2	c.15857A>G	NM_182914.2	NP_878918.2:p.(Tyr5286Cys)	NC_000014.8:g.64625407A>G	(Likely) benign	1 lab	f8d5b3858e
3:38968307 SCN11A C>A	3	38968307	38968307	C	A	SCN11A	c.604G>T	NM_014139.3	NP_054858.2:p.(Val202Phe)	NC_000003.11:g.38968307C>A	VUS	1 lab	f8d6ddc675
1:237947025 RYR2 G>A	1	237947025	237947025	G	A	RYR2	c.12013G>A	NM_001035.2	NP_001026.2:p.(Glu4005Lys)	NC_000001.10:g.237947025G>A	(Likely) pathogenic	1 lab	f8d8a4c7cc
8:144992512 PLEC C>T	8	144992512	144992512	C	T	PLEC	c.11888G>A	NM_201380.2	NP_958782.1:p.(Arg3963His)	NC_000008.10:g.144992512C>T	VUS	1 lab	f8d8c84ae1
15:63354836 TPM1 A>T	15	63354836	63354836	A	T	TPM1	c.764A>T	NM_001018004.2	NP_001018004.1:p.(Asp255Val)	NC_000015.9:g.63354836A>T	VUS	1 lab	1810dc5dcf
21:43803181 TMPRSS3 G>A	21	43803181	43803181	G	A	TMPRSS3	c.743C>T	NM_024022.4	NP_076927.1:p.(Thr248Met)	NC_000021.8:g.43803181G>A	(Likely) pathogenic	1 lab	f8dd4db7f0
17:7591997 TP53 C>T	17	7591997	7591997	C	T	TP53				NC_000017.10:g.7591997C>T	(Likely) benign	1 lab	f91d75225b
2:25463289 DNMT3A T>C	2	25463289	25463289	T	C	DNMT3A	c.2204A>G	NM_022552.4	NP_072046.2:p.(Tyr735Cys)	NC_000002.11:g.25463289T>C	(Likely) pathogenic	1 lab	f8de420ae0
11:61726979 BEST1 C>A	11	61726979	61726979	C	A	BEST1	c.877C>A	NM_004183.3	NP_004174.1:p.(Gln293Lys)	NC_000011.9:g.61726979C>A	(Likely) pathogenic	1 lab	f8e02d444a
10:43609987 RET A>G	10	43609987	43609987	A	G	RET	c.1939A>G	NM_020975.4	NP_066124.1:p.(Ile647Val)	NC_000010.10:g.43609987A>G	VUS	1 lab	1904144ec1
2:39249920 SOS1 A>G	2	39249920	39249920	A	G	SOS1	c.1649T>C	NM_005633.3	NP_005624.2:p.(Leu550Pro)	NC_000002.11:g.39249920A>G	(Likely) pathogenic	1 lab	f8e11163be
10:89692805 PTEN C>T	10	89692805	89692805	C	T	PTEN	c.289C>T	NM_000314.4	NP_000305.3:p.(Gln97Ter)	NC_000010.10:g.89692805C>T	(Likely) pathogenic	1 lab	f8e266291d
X:85149262 CHM C>A	X	85149262	85149262	C	A	CHM	c.1441G>T	NM_000390.3	NP_000381.1:p.(Glu481Ter)	NC_000023.10:g.85149262C>A	(Likely) pathogenic	1 lab	f8e3a803f1
2:48010391 MSH6 C>A	2	48010391	48010391	C	A	MSH6	c.19C>A	NM_000179.3	NP_000170.1:p.(Leu7Met)	NC_000002.11:g.48010391C>A	VUS	1 lab	f8e4127c77
12:2788803 CACNA1C G>GCTCCAACGCCAACAT	12	2788803	2788819	G	GCTCCAACGCCAACAT	CACNA1C	c.5287_5301dup	NM_000719.7	NP_000710.5:p.(Ser1763_Ile1767dup)	NC_000012.11:g.2788805_2788819dup	VUS	1 lab	f8e6fe341e
13:32913410 BRCA2 C>T	13	32913410	32913410	C	T	BRCA2	c.4918C>T	NM_000059.3	NP_000050.2:p.(His1640Tyr)	NC_000013.10:g.32913410C>T	(Likely) benign	1 lab	f8f014fa6f
19:18173082 IL12RB1 G>A	19	18173082	18173082	G	A	IL12RB1	c.1624C>T	NM_005535.3	NP_005526.1:p.(Gln542Ter)	NC_000019.9:g.18173082G>A	(Likely) pathogenic	1 lab	f8f2ec6940
11:61726998 BEST1 G>C	11	61726998	61726998	G	C	BEST1	c.896G>C	NM_004183.3	NP_004174.1:p.(Gly299Ala)	NC_000011.9:g.61726998G>C	(Likely) pathogenic	1 lab	f8f433bf75
11:121058703 TECTA C>T	11	121058703	121058703	C	T	TECTA				NC_000011.9:g.121058703C>T	VUS	1 lab	f8f75aac96
X:69498476 ARR3 T>G	X	69498476	69498476	T	G	ARR3	c.890T>G	NM_004312.2	NP_004303.2:p.(Leu297Arg)	NC_000023.10:g.69498476T>G	VUS	1 lab	f8f9473086
X:41029361 USP9X G>A	X	41029361	41029361	G	A	USP9X	c.2750G>A	NM_001039591.3	NP_001034680.2:p.(Arg917Gln)	NC_000023.10:g.41029361G>A	VUS	1 lab	f8fa6fc073
11:76866955 MYO7A G>A	11	76866955	76866955	G	A	MYO7A	c.288G>A	NM_000260.3	NP_000251.3:p.(Thr96=)	NC_000011.9:g.76866955G>A	(Likely) benign	1 lab	f8fabdeb5b
X:53651616 HUWE1 T>A	X	53651616	53651616	T	A	HUWE1	c.1612A>T	NM_031407.5	NP_113584.3:p.(Thr538Ser)	NC_000023.10:g.53651616T>A	VUS	1 lab	f8fac3ecbc
6:76022883 FILIP1 G>A	6	76022883	76022883	G	A	FILIP1	c.2665C>T	NM_015687.4	NP_056502.1:p.(Arg889Ter)	NC_000006.11:g.76022883G>A	VUS	1 lab	f8fd233153
6:123851696 TRDN T>C	6	123851696	123851696	T	C	TRDN	c.439A>G	NM_006073.4	NP_006064.2:p.(Lys147Glu)	NC_000006.11:g.123851696T>C	VUS	1 lab	f8feb50dbf
9:37429729 GRHPR G>A	9	37429729	37429729	G	A	GRHPR	c.494G>A	NM_012203.2	NP_036335.1:p.(Gly165Asp)	NC_000009.11:g.37429729G>A	(Likely) pathogenic	1 lab	f90038fd7d
X:136651063 ZIC3 G>T	X	136651063	136651063	G	T	ZIC3	c.1063G>T	NM_003413.3	NP_003404.1:p.(Glu355Ter)	NC_000023.10:g.136651063G>T	(Likely) pathogenic	1 lab	f900b8f5a5
14:105609979 JAG2 C>A	14	105609979	105609979	C	A	JAG2	c.3085-4G>T	NM_002226.5	NP_002217.3:p.?	NC_000014.8:g.105609979C>A	VUS	1 lab	0458e43083
17:68171719 KCNJ2 T>C	17	68171719	68171719	T	C	KCNJ2	c.539T>C	NM_000891.3	NP_000882.1:p.(Met180Thr)	NC_000017.10:g.68171719T>C	VUS	1 lab	f902020f66
10:112356239 SMC3 A>AG	10	112356239	112356240	A	AG	SMC3	c.2048dup	NM_005445.4	NP_005436.1:p.(Ala685SerfsTer7)	NC_000010.10:g.112356240dup	VUS	1 lab	f905d60272
15:43896322 STRC C>T	15	43896322	43896322	C	T	STRC	c.4247G>A	NM_153700.2	NP_714544.1:p.(Arg1416Gln)	NC_000015.9:g.43896322C>T	VUS	1 lab	f907f9964d
15:48800899 FBN1 T>C	15	48800899	48800899	T	C	FBN1	c.1717A>G	NM_000138.4	NP_000129.3:p.(Met573Val)	NC_000015.9:g.48800899T>C	VUS	1 lab	f9093f86fe
8:56436017 XKR4 C>T	8	56436017	56436017	C	T	XKR4	c.1184C>T	NM_052898.1	NP_443130.1:p.(Ser395Leu)	NC_000008.10:g.56436017C>T	VUS	1 lab	f941f2e335
3:49866659 TRAIP C>A	3	49866659	49866659	C	A	TRAIP	c.1288-1G>T	NM_005879.3	NP_005870.2:p.?	NC_000003.11:g.49866659C>A	VUS	1 lab	181c02ce75
16:2156955 PKD1 G>A	16	2156955	2156955	G	A	PKD1	c.7066-6C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2156955G>A	(Likely) benign	1 lab	19047361b0
18:19102747 GREB1L A>G	18	19102747	19102747	A	G	GREB1L	c.5737A>G	NM_001142966.2	NP_001136438.1:p.(Lys1913Glu)	NC_000018.9:g.19102747A>G	VUS	1 lab	f90c00ecf5
15:67073388 SMAD6 T>G	15	67073388	67073388	T	G	SMAD6	c.1006T>G	NM_005585.5	NP_005576.3:p.(Tyr336Asp)	NC_000015.9:g.67073388T>G	VUS	1 lab	f90d110463
22:42609088 TCF20 G>A	22	42609088	42609088	G	A	TCF20	c.2224C>T	NM_005650.3	NP_005641.1:p.(Arg742Ter)	NC_000022.10:g.42609088G>A	(Likely) pathogenic	1 lab	f90df97988
12:115114116 TBX3 A>G	12	115114116	115114116	A	G	TBX3	c.1099+2T>C	NM_016569.3	NP_057653.3:p.?	NC_000012.11:g.115114116A>G	(Likely) pathogenic	1 lab	f9117a283d
X:601614 SHOX G>A	X	601614	601614	G	A	SHOX	c.544+1G>A	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.601614G>A	(Likely) pathogenic	1 lab	f911fd9033
9:134398719 POMT1 T>C	9	134398719	134398719	T	C	POMT1	c.*226T>C	NM_007171.3	NP_009102.3:p.?	NC_000009.11:g.134398719T>C	(Likely) benign	1 lab	f9159d7c80
1:22201462 HSPG2 G>A	1	22201462	22201462	G	A	HSPG2	c.3336C>T	NM_005529.6	NP_005520.4:p.(Pro1112=)	NC_000001.10:g.22201462G>A	(Likely) benign	1 lab	1905733538
1:45808673 TOE1 C>T	1	45808673	45808673	C	T	TOE1	c.911C>T	NM_025077.4	NP_079353.3:p.(Ser304Leu)	NC_000001.10:g.45808673C>T	VUS	1 lab	f917dbf239
16:90001364 TUBB3 G>A	16	90001364	90001364	G	A	TUBB3	c.505G>A	NM_006086.4	NP_006077.2:p.(Val169Ile)	NC_000016.9:g.90001364G>A	VUS	1 lab	181ca4bb30
2:170060603 LRP2 T>C	2	170060603	170060603	T	C	LRP2	c.7894A>G	NM_004525.2	NP_004516.2:p.(Asn2632Asp)	NC_000002.11:g.170060603T>C	(Likely) benign	1 lab	f9202cecc6
16:2166032 PKD1 G>A	16	2166032	2166032	G	A	PKD1	c.1810C>T	NM_001009944.3	NP_001009944.3:p.(Gln604Ter)	NC_000016.9:g.2166032G>A	(Likely) pathogenic	1 lab	f922007f8a
1:119427513 TBX15 C>A	1	119427513	119427513	C	A	TBX15	c.1651G>T	NM_001330677.2	NP_001317606.1:p.(Ala551Ser)	NC_000001.10:g.119427513C>A	VUS	1 lab	f9267ce338
12:132404595 ULK1 C>T	12	132404595	132404595	C	T	ULK1	c.2875C>T	NM_003565.2	NP_003556.1:p.(Arg959Cys)	NC_000012.11:g.132404595C>T	VUS	1 lab	f92b9f3fe2
15:86697744 AGBL1 C>T	15	86697744	86697744	C	T	AGBL1	c.346C>T	NM_152336.4	NP_689549.3:p.(Gln116Ter)	NC_000015.9:g.86697744C>T	VUS	1 lab	f92cfb65c6
1:236925748 ACTN2 T>C	1	236925748	236925748	T	C	ACTN2	c.2527-13T>C	NM_001103.2	NP_001094.1:p.?	NC_000001.10:g.236925748T>C	(Likely) benign	1 lab	f933e67d05
2:179436196 TTN CT>C	2	179436196	179436197	CT	C	TTN	c.74662del	NM_001267550.2	NP_001254479.2:p.(Arg24888AspfsTer14)	NC_000002.11:g.179436197del	(Likely) pathogenic	1 lab	f93b164036
2:47643444 MSH2 G>T	2	47643444	47643444	G	T	MSH2	c.952G>T	NM_000251.2	NP_000242.1:p.(Glu318Ter)	NC_000002.11:g.47643444G>T	(Likely) pathogenic	1 lab	f93bec7513
11:108201018 C11orf65 T>C	11	108201018	108201018	T	C	C11orf65				NC_000011.9:g.108201018T>C	VUS	1 lab	f93c52893d
2:233323405 ALPI C>T	2	233323405	233323405	C	T	ALPI	c.1247C>T	NM_001631.5	NP_001622.2:p.(Pro416Leu)	NC_000002.11:g.233323405C>T	VUS	1 lab	181cd88b85
19:38973935 RYR1 C>G	19	38973935	38973935	C	G	RYR1	c.4713C>G	NM_000540.3	NP_000531.2:p.(Ile1571Met)	NC_000019.9:g.38973935C>G	VUS	1 lab	18213943e6
2:166905415 SCN1A C>G	2	166905415	166905415	C	G	SCN1A	c.1009G>C	NM_001165963.1	NP_001159435.1:p.(Gly337Arg)	NC_000002.11:g.166905415C>G	VUS	1 lab	f947627961
11:117215004 CEP164 A>G	11	117215004	117215004	A	G	CEP164	c.194+11A>G	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117215004A>G	(Likely) benign	1 lab	190b5a0e79
1:12887224 PRAMEF11 C>A	1	12887224	12887224	C	A	PRAMEF11	c.759G>T	NM_001146344.3	NP_001139816.2:p.(Glu253Asp)	NC_000001.10:g.12887224C>A	(Likely) benign	1 lab	1910688259
2:167279762 SCN7A T>C	2	167279762	167279762	T	C	SCN7A	c.3027+7A>G	NM_002976.3	NP_002967.2:p.?	NC_000002.11:g.167279762T>C	(Likely) benign	1 lab	f949a86e79
16:2142955 PKD1 C>T	16	2142955	2142955	C	T	PKD1	c.11156G>A	NM_001009944.2	NP_001009944.2:p.(Arg3719Gln)	NC_000016.9:g.2142955C>T	(Likely) pathogenic	1 lab	f94e0696a4
22:32302410 DEPDC5 G>C	22	32302410	32302410	G	C	DEPDC5	c.4739G>C	NM_001242896.3	NP_001229825.1:p.(Cys1580Ser)	NC_000022.10:g.32302410G>C	VUS	1 lab	f94fc72fce
5:112175576 APC C>T	5	112175576	112175576	C	T	APC	c.4285C>T	NM_000038.5	NP_000029.2:p.(Gln1429Ter)	NC_000005.9:g.112175576C>T	(Likely) pathogenic	1 lab	f951232172
6:152545646 SYNE1 G>T	6	152545646	152545646	G	T	SYNE1	c.21505C>A	NM_182961.4	NP_892006.3:p.(Gln7169Lys)	NC_000006.11:g.152545646G>T	VUS	1 lab	f9523da4cf
12:7053050 ATN1 G>A	12	7053050	7053050	G	A	ATN1				NC_000012.11:g.7053050G>A	(Likely) benign	1 lab	1822833b6f
10:75867085 VCL G>A	10	75867085	75867085	G	A	VCL	c.2532G>A	NM_014000.3	NP_054706.1:p.(Pro844=)	NC_000010.10:g.75867085G>A	(Likely) benign	1 lab	1826a97a7e
1:17314904 ATP13A2 C>T	1	17314904	17314904	C	T	ATP13A2	c.2675G>A	NM_022089.2	NP_071372.1:p.(Gly892Asp)	NC_000001.10:g.17314904C>T	VUS	1 lab	f95c479c40
10:112540725 RBM20 CT>C	10	112540725	112540726	CT	C	RBM20	c.359del	NM_001134363.3	NP_001127835.2:p.(Leu120ArgfsTer18)	NC_000010.10:g.112540726del	VUS	1 lab	f95e359bc9
6:152737521 SYNE1 C>T	6	152737521	152737521	C	T	SYNE1	c.6050+1G>A	NM_182961.3	NP_892006.3:p.?	NC_000006.11:g.152737521C>T	(Likely) pathogenic	1 lab	f96101f11d
1:16451799 EPHA2 C>T	1	16451799	16451799	C	T	EPHA2	c.2842G>A	NM_004431.3	NP_004422.2:p.(Gly948Arg)	NC_000001.10:g.16451799C>T	(Likely) pathogenic	1 lab	f961949a85
17:33428225 RAD51D G>A	17	33428225	33428225	G	A	RAD51D	c.898C>T	NM_002878.3	NP_002869.3:p.(Arg300Ter)	NC_000017.10:g.33428225G>A	(Likely) pathogenic	1 lab	f96964db80
1:160105381 ATP1A2 G>A	1	160105381	160105381	G	A	ATP1A2	c.2273G>A	NM_000702.4	NP_000693.1:p.(Gly758Glu)	NC_000001.10:g.160105381G>A	VUS	1 lab	f96986a55f
1:159174787 ACKR1 G>T	1	159174787	159174787	G	T	ACKR1	c.-24+17G>T	NM_001122951.3	NP_001116423.1:p.?	NC_000001.10:g.159174787G>T	(Likely) benign	1 lab	1914fcdf53
19:49469991 FTL A>G	19	49469991	49469991	A	G	FTL	c.527A>G	NM_000146.4	NP_000137.2:p.(Ter176=)	NC_000019.9:g.49469991A>G	(Likely) benign	1 lab	f96acf4a90
7:100225218 TFR2 G>C	7	100225218	100225218	G	C	TFR2	c.1749C>G	NM_003227.4	NP_003218.2:p.(Val583=)	NC_000007.13:g.100225218G>C	(Likely) benign	1 lab	f96e4a2e22
20:33587161 MYH7B C>T	20	33587161	33587161	C	T	MYH7B	c.4619C>T	NM_020884.4	NP_065935.3:p.(Ala1540Val)	NC_000020.10:g.33587161C>T	VUS	1 lab	f96f09d5cc
2:179638395 TTN A>T	2	179638395	179638395	A	T	TTN	c.7388T>A	NM_001267550.2	NP_001254479.2:p.(Val2463Glu)	NC_000002.11:g.179638395A>T	VUS	1 lab	f970710565
2:165947244 SCN3A A>C	2	165947244	165947244	A	C	SCN3A	c.5419T>G	NM_006922.4	NP_008853.3:p.(Phe1807Val)	NC_000002.11:g.165947244A>C	VUS	1 lab	f973668d2c
5:251419 SDHA C>T	5	251419	251419	C	T	SDHA	c.1664-34C>T	NM_004168.2	NP_004159.2:p.?	NC_000005.9:g.251419C>T	(Likely) benign	1 lab	f973d15a82
12:52200475 SCN8A T>C	12	52200475	52200475	T	C	SCN8A	c.5205T>C	NM_001330260.2	NP_001317189.1:p.(Asp1735=)	NC_000012.11:g.52200475T>C	(Likely) benign	1 lab	f975c7c937
19:41903146 EXOSC5 GC>G	19	41903146	41903148	GC	G	EXOSC5	c.87del	NM_020158.3	NP_064543.3:p.(His30ThrfsTer35)	NC_000019.9:g.41903148del	(Likely) pathogenic	1 lab	f9792334c6
1:52850936 ORC1 T>C	1	52850936	52850936	T	C	ORC1				NC_000001.10:g.52850936T>C	(Likely) pathogenic	1 lab	f9793fb383
2:227924137 COL4A4 T>A	2	227924137	227924137	T	A	COL4A4	c.2367A>T	NM_000092.4	NP_000083.3:p.(Gly789=)	NC_000002.11:g.227924137T>A	(Likely) benign	1 lab	f9797c69bd
10:101977883 CHUK C>T	10	101977883	101977883	C	T	CHUK	c.802G>A	NM_001278.5	NP_001269.3:p.(Val268Ile)	NC_000010.10:g.101977883C>T	(Likely) benign	1 lab	1829c78ac7
4:120177522 USP53 G>T	4	120177522	120177522	G	T	USP53	c.486+8G>T	NM_019050.2	NP_061923.2:p.?	NC_000004.11:g.120177522G>T	(Likely) benign	1 lab	f97a86b7c8
13:32907056 BRCA2 A>G	13	32907056	32907056	A	G	BRCA2	c.1441A>G	NM_000059.3	NP_000050.2:p.(Ile481Val)	NC_000013.10:g.32907056A>G	(Likely) benign	1 lab	f97cc7bc09
X:70352392 MED12 A>G	X	70352392	70352392	A	G	MED12	c.4415+4A>G	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70352392A>G	(Likely) benign	1 lab	f97d5d07b8
7:100229756 TFR2 G>C	7	100229756	100229756	G	C	TFR2	c.915C>G	NM_003227.3	NP_003218.2:p.(Ser305=)	NC_000007.13:g.100229756G>C	VUS	1 lab	f97e63cd61
17:41197756 BRCA1 A>G	17	41197756	41197756	A	G	BRCA1	c.5531T>C	NM_007294.4	NP_009225.1:p.(Leu1844Pro)	NC_000017.10:g.41197756A>G	(Likely) benign	1 lab	f97e672637
6:99883683 USP45 A>G	6	99883683	99883683	A	G	USP45	c.2354T>C	NM_001080481.3	NP_001073950.1:p.(Val785Ala)	NC_000006.11:g.99883683A>G	VUS	1 lab	182a88fa4e
19:18266793 PIK3R2 G>A	19	18266793	18266793	G	A	PIK3R2	c.104G>A	NM_005027.4	NP_005018.2:p.(Arg35Gln)	NC_000019.9:g.18266793G>A	(Likely) benign	1 lab	182ae9e440
7:92732269 SAMD9 C>T	7	92732269	92732269	C	T	SAMD9	c.3142G>A	NM_017654.4	NP_060124.2:p.(Gly1048Arg)	NC_000007.13:g.92732269C>T	VUS	1 lab	f98491c20b
1:103471441 COL11A1 G>A	1	103471441	103471441	G	A	COL11A1	c.1798C>T	NM_001854.3	NP_001845.3:p.(Arg600Ter)	NC_000001.10:g.103471441G>A	(Likely) pathogenic	1 lab	f9860c5884
2:179397629 TTN A>G	2	179397629	179397629	A	G	TTN	c.103713T>C	NM_001267550.2	NP_001254479.2:p.(Tyr34571=)	NC_000002.11:g.179397629A>G	(Likely) benign	1 lab	182cd56ef7
1:237823282 RYR2 A>G	1	237823282	237823282	A	G	RYR2	c.8209-3A>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237823282A>G	(Likely) benign	1 lab	1832d4b96e
12:115114271 TBX3 G>A	12	115114271	115114271	G	A	TBX3	c.946C>T	NM_016569.3	NP_057653.3:p.(Gln316Ter)	NC_000012.11:g.115114271G>A	(Likely) pathogenic	1 lab	f9970a946e
17:29703373 NF1 G>A	17	29703373	29703373	G	A	NF1	c.*2200G>A	NM_000267.3	NP_000258.1:p.?	NC_000017.10:g.29703373G>A	(Likely) benign	1 lab	f9982f6d9b
2:179399837 TTN A>G	2	179399837	179399837	A	G	TTN	c.101505T>C	NM_001267550.2	NP_001254479.2:p.(Arg33835=)	NC_000002.11:g.179399837A>G	(Likely) benign	1 lab	f9991008d0
2:179399240 TTN G>GAAAGT	2	179399240	179399246	G	GAAAGT	TTN	c.102097_102101dup	NM_001267550.2	NP_001254479.2:p.(Phe34034LeufsTer23)	NC_000002.11:g.179399242_179399246dup	(Likely) pathogenic	1 lab	f99b61645c
2:162280504 TBR1 G>C	2	162280504	162280504	G	C	TBR1	c.1815G>C	NM_006593.4	NP_006584.1:p.(Lys605Asn)	NC_000002.11:g.162280504G>C	VUS	1 lab	f99ec57170
10:96018771 PLCE1 TG>T	10	96018771	96018772	TG	T	PLCE1	c.3679del	NM_016341.4	NP_057425.3:p.(Val1227SerfsTer7)	NC_000010.10:g.96018772del	(Likely) pathogenic	1 lab	f99facabf9
21:19743577 TMPRSS15 T>C	21	19743577	19743577	T	C	TMPRSS15	c.664+933A>G	NM_002772.3	NP_002763.3:p.?	NC_000021.8:g.19743577T>C	VUS	1 lab	183acdfa6f
18:28649054 DSC2 C>T	18	28649054	28649054	C	T	DSC2	c.2314G>A	NM_024422.4	NP_077740.1:p.(Val772Met)	NC_000018.9:g.28649054C>T	(Likely) benign	1 lab	f9a1fff040
17:56770041 RAD51C G>T	17	56770041	56770041	G	T	RAD51C	c.37G>T	NM_058216.2	NP_478123.1:p.(Asp13Tyr)	NC_000017.10:g.56770041G>T	(Likely) benign	1 lab	f9a4994702
1:197297996 CRB1 G>C	1	197297996	197297996	G	C	CRB1	c.515G>C	NM_201253.2	NP_957705.1:p.(Cys172Ser)	NC_000001.10:g.197297996G>C	VUS	1 lab	f9a83d1600
9:75431125 TMC1 T>C	9	75431125	75431125	T	C	TMC1	c.1762T>C	NM_138691.2	NP_619636.2:p.(Trp588Arg)	NC_000009.11:g.75431125T>C	VUS	1 lab	f9a8e9d90f
2:179416526 TTN A>ATTTC	2	179416526	179416541	A	ATTTC	TTN	c.91097_91100dup	NM_001267550.2	NP_001254479.2:p.(Asn30367LysfsTer3)	NC_000002.11:g.179416538_179416541dup	(Likely) pathogenic	1 lab	183c3a97a6
11:121000774 TECTA T>C	11	121000774	121000774	T	C	TECTA	c.2795T>C	NM_005422.4	NP_005413.2:p.(Val932Ala)	NC_000011.9:g.121000774T>C	(Likely) benign	1 lab	f9ac8ffa7c
7:135303243 NUP205 G>A	7	135303243	135303243	G	A	NUP205	c.3855G>A	NM_015135.2	NP_055950.1:p.(Ser1285=)	NC_000007.13:g.135303243G>A	(Likely) benign	1 lab	1916dd5bf0
22:36712669 MYH9 T>A	22	36712669	36712669	T	A	MYH9	c.1273A>T	NM_002473.6	NP_002464.1:p.(Met425Leu)	NC_000022.10:g.36712669T>A	VUS	1 lab	f9afbb7191
7:100861213 PLOD3 T>C	7	100861213	100861213	T	C	PLOD3				NC_000007.13:g.100861213T>C	(Likely) benign	1 lab	183f19c150
2:227896873 COL4A4 C>G	2	227896873	227896873	C	G	COL4A4	c.3697G>C	NM_000092.4	NP_000083.3:p.(Gly1233Arg)	NC_000002.11:g.227896873C>G	(Likely) pathogenic	1 lab	f9b01b8df5
2:167055706 SCN9A T>C	2	167055706	167055706	T	C	SCN9A	c.5410A>G	NM_002977.3	NP_002968.1:p.(Ile1804Val)	NC_000002.11:g.167055706T>C	VUS	1 lab	f9b1092ddc
1:216591968 USH2A G>A	1	216591968	216591968	G	A	USH2A	c.539C>T	NM_206933.4	NP_996816.3:p.(Ser180Phe)	NC_000001.10:g.216591968G>A	VUS	1 lab	f9b36ff92a
6:7580441 DSP C>G	6	7580441	7580441	C	G	DSP	c.4018C>G	NM_004415.2	NP_004406.2:p.(Arg1340Gly)	NC_000006.11:g.7580441C>G	VUS	1 lab	1919666906
11:108129901 ATM T>C	11	108129901	108129901	T	C	ATM	c.2466+99T>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108129901T>C	(Likely) benign	1 lab	f9baaaff34
12:21013948 SLCO1B3 C>T	12	21013948	21013948	C	T	SLCO1B3	c.360-3C>T	NM_019844.4	NP_062818.1:p.?	NC_000012.11:g.21013948C>T	(Likely) benign	1 lab	183f91b10e
14:23874842 MYH6 C>A	14	23874842	23874842	C	A	MYH6	c.339G>T	NM_002471.3	NP_002462.2:p.(Met113Ile)	NC_000014.8:g.23874842C>A	VUS	1 lab	f9bd8d2e98
13:32907452 BRCA2 C>A	13	32907452	32907452	C	A	BRCA2	c.1837C>A	NM_000059.3	NP_000050.2:p.(Leu613Ile)	NC_000013.10:g.32907452C>A	(Likely) benign	1 lab	f9beba5697
17:8192111 RANGRF A>G	17	8192111	8192111	A	G	RANGRF	c.5A>G	NM_016492.5	NP_057576.2:p.(Glu2Gly)	NC_000017.10:g.8192111A>G	VUS	1 lab	1841c424c5
8:97157564 GDF6 C>T	8	97157564	97157564	C	T	GDF6	c.595G>A	NM_001001557.2	NP_001001557.1:p.(Ala199Thr)	NC_000008.10:g.97157564C>T	VUS	1 lab	f9c6e3cb91
17:76133908 TMC8 G>A	17	76133908	76133908	G	A	TMC8	c.1349+13G>A	NM_152468.4	NP_689681.2:p.?	NC_000017.10:g.76133908G>A	(Likely) benign	1 lab	f9ca54510b
X:14708956 GLRA2 G>A	X	14708956	14708956	G	A	GLRA2	c.1055G>A	NM_001118885.1	NP_001112357.1:p.(Arg352Gln)	NC_000023.10:g.14708956G>A	VUS	1 lab	f9cafb7652
21:43795814 TMPRSS3 G>A	21	43795814	43795814	G	A	TMPRSS3				NC_000021.8:g.43795814G>A	(Likely) benign	1 lab	f9cc60f4ab
9:131454249 SET T>G	9	131454249	131454249	T	G	SET	c.283T>G	NM_001122821.1	NP_001116293.1:p.(Trp95Gly)	NC_000009.11:g.131454249T>G	VUS	1 lab	f9cf57831d
7:2978297 CARD11 C>T	7	2978297	2978297	C	T	CARD11	c.1017+16G>A	NM_001324281.2	NP_001311210.1:p.?	NC_000007.13:g.2978297C>T	(Likely) benign	1 lab	191b1a23bf
13:39422624 FREM2 C>T	13	39422624	39422624	C	T	FREM2	c.6196C>T	NM_207361.6	NP_997244.4:p.(Arg2066Cys)	NC_000013.10:g.39422624C>T	(Likely) benign	1 lab	191b8b7f10
10:121429351 BAG3 T>C	10	121429351	121429351	T	C	BAG3	c.181-12T>C	NM_004281.3	NP_004272.2:p.?	NC_000010.10:g.121429351T>C	(Likely) benign	1 lab	f9d608499d
12:53040561 KRT2 C>G	12	53040561	53040561	C	G	KRT2	c.1432G>C	NM_000423.2	NP_000414.2:p.(Ala478Pro)	NC_000012.11:g.53040561C>G	(Likely) pathogenic	1 lab	f9da595398
19:48339521 CRX G>C	19	48339521	48339521	G	C	CRX	c.122G>C	NM_000554.6	NP_000545.1:p.(Arg41Pro)	NC_000019.9:g.48339521G>C	VUS	1 lab	f9da90f9c2
15:43021563 CDAN1 G>A	15	43021563	43021563	G	A	CDAN1	c.2408-3C>T	NM_138477.4	NP_612486.2:p.?	NC_000015.9:g.43021563G>A	(Likely) benign	1 lab	f9db9a2d71
5:14482725 TRIO A>C	5	14482725	14482725	A	C	TRIO	c.6500A>C	NM_007118.4	NP_009049.2:p.(Gln2167Pro)	NC_000005.9:g.14482725A>C	VUS	1 lab	f9dc6b916f
X:53459223 HSD17B10 G>A	X	53459223	53459223	G	A	HSD17B10	c.329C>T	NM_004493.3	NP_004484.1:p.(Thr110Ile)	NC_000023.10:g.53459223G>A	VUS	1 lab	1848f19abf
12:49423223 KMT2D GCAGC>G	12	49423223	49423231	GCAGC	G	KMT2D	c.14032_14035del	NM_003482.4	NP_003473.3:p.(Ala4678ProfsTer118)	NC_000012.11:g.49423228_49423231del	(Likely) pathogenic	1 lab	f9e030313e
9:129453113 LMX1B A>T	9	129453113	129453113	A	T	LMX1B	c.327-2A>T	NM_002316.3	NP_002307.2:p.?	NC_000009.11:g.129453113A>T	(Likely) pathogenic	1 lab	f9e0fb26d3
11:108236252 ATM T>G	11	108236252	108236252	T	G	ATM	c.*17T>G	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108236252T>G	(Likely) benign	1 lab	f9e1a6538e
1:210856790 KCNH1 C>A	1	210856790	210856790	C	A	KCNH1	c.2803G>T	NM_172362.2	NP_758872.1:p.(Glu935Ter)	NC_000001.10:g.210856790C>A	VUS	1 lab	f9e2afbcab
11:47360203 MYBPC3 G>A	11	47360203	47360203	G	A	MYBPC3	c.2176C>T	NM_000256.3	NP_000247.2:p.(Arg726Cys)	NC_000011.9:g.47360203G>A	VUS	1 lab	f9e6a1cfab
2:152417125 NEB T>C	2	152417125	152417125	T	C	NEB	c.19295A>G	NM_001271208.1	NP_001258137.1:p.(Gln6432Arg)	NC_000002.11:g.152417125T>C	(Likely) benign	1 lab	191d28413c
2:179396778 TTN G>T	2	179396778	179396778	G	T	TTN	c.104564C>A	NM_001267550.2	NP_001254479.2:p.(Ser34855Tyr)	NC_000002.11:g.179396778G>T	VUS	1 lab	f9eabdc68c
1:201036123 CACNA1S T>C	1	201036123	201036123	T	C	CACNA1S	c.2551-2A>G	NM_000069.2	NP_000060.2:p.?	NC_000001.10:g.201036123T>C	(Likely) pathogenic	1 lab	f9ead387b2
16:89613181 SPG7 C>T	16	89613181	89613181	C	T	SPG7	c.1552+13C>T	NM_003119.2	NP_003110.1:p.?	NC_000016.9:g.89613181C>T	(Likely) benign	1 lab	f9ecffd08f
18:29171927 TTR G>C	18	29171927	29171927	G	C	TTR	c.62G>C	NM_000371.4	NP_000362.1:p.(Gly21Ala)	NC_000018.9:g.29171927G>C	(Likely) benign	1 lab	f9f035ec78
X:12906424 TLR7 T>C	X	12906424	12906424	T	C	TLR7	c.2797T>C	NM_016562.3	NP_057646.1:p.(Trp933Arg)	NC_000023.10:g.12906424T>C	(Likely) pathogenic	1 lab	f9f0ba8a57
19:38976616 RYR1 C>T	19	38976616	38976616	C	T	RYR1	c.5321C>T	NM_000540.2	NP_000531.2:p.(Pro1774Leu)	NC_000019.9:g.38976616C>T	(Likely) benign	1 lab	f9f1866ffb
11:76925684 MYO7A C>G	11	76925684	76925684	C	G	MYO7A	c.6591C>G	NM_000260.3	NP_000251.3:p.(Tyr2197Ter)	NC_000011.9:g.76925684C>G	(Likely) pathogenic	1 lab	f9f49a6bff
12:49434444 KMT2D C>T	12	49434444	49434444	C	T	KMT2D	c.7109G>A	NM_003482.4	NP_003473.3:p.(Arg2370His)	NC_000012.11:g.49434444C>T	(Likely) benign	1 lab	1859df8bfc
6:32008711 CYP21A2 C>T	6	32008711	32008711	C	T	CYP21A2	c.1288C>T	NM_000500.7	NP_000491.4:p.(Leu430=)	NC_000006.11:g.32008711C>T	(Likely) benign	1 lab	f9f6fa816b
4:3495095 DOK7 G>A	4	3495095	3495095	G	A	DOK7	c.1382G>A	NM_173660.4	NP_775931.3:p.(Gly461Asp)	NC_000004.11:g.3495095G>A	(Likely) benign	1 lab	fa04a1f49e
15:40763507 CHST14 C>T	15	40763507	40763507	C	T	CHST14	c.95C>T	NM_130468.4	NP_569735.1:p.(Ala32Val)	NC_000015.9:g.40763507C>T	VUS	1 lab	05fb417a7e
X:38145033 RPGR G>A	X	38145033	38145033	G	A	RPGR	c.3219C>T	NM_001034853.1	NP_001030025.1:p.(Gly1073=)	NC_000023.10:g.38145033G>A	(Likely) benign	1 lab	fa0bda5593
2:48033421 MSH6 G>A	2	48033421	48033421	G	A	MSH6	c.3725G>A	NM_000179.2	NP_000170.1:p.(Arg1242His)	NC_000002.11:g.48033421G>A	VUS	1 lab	fa0ef0c4b7
3:43122044 POMGNT2 G>A	3	43122044	43122044	G	A	POMGNT2				NC_000003.11:g.43122044G>A	(Likely) pathogenic	1 lab	fa15b2aadc
12:14948327 WBP11 A>G	12	14948327	14948327	A	G	WBP11	c.388-289T>C	NM_016312.3	NP_057396.1:p.?	NC_000012.11:g.14948327A>G	VUS	1 lab	0477c5a682
X:136649202 ZIC3 T>C	X	136649202	136649202	T	C	ZIC3	c.352T>C	NM_003413.3	NP_003404.1:p.(Phe118Leu)	NC_000023.10:g.136649202T>C	(Likely) benign	1 lab	fa15be50fd
1:12335881 VPS13D G>C	1	12335881	12335881	G	C	VPS13D	c.2237-1G>C	NM_015378.3	NP_056193.2:p.?	NC_000001.10:g.12335881G>C	VUS	1 lab	fa180f3d99
1:165175133 LMX1A G>C	1	165175133	165175133	G	C	LMX1A	c.956C>G	NM_177398.4	NP_796372.1:p.(Pro319Arg)	NC_000001.10:g.165175133G>C	VUS	1 lab	fa1869a4c8
1:109490265 CLCC1 T>C	1	109490265	109490265	T	C	CLCC1	c.307A>G	NM_015127.5	NP_055942.1:p.(Lys103Glu)	NC_000001.10:g.109490265T>C	VUS	1 lab	fa1bf2bda0
1:86249998 COL24A1 G>A	1	86249998	86249998	G	A	COL24A1	c.4111C>T	NM_152890.5	NP_690850.2:p.(Arg1371Ter)	NC_000001.10:g.86249998G>A	VUS	1 lab	fa271819c8
4:3520734 LRPAP1 G>A	4	3520734	3520734	G	A	LRPAP1				NC_000004.11:g.3520734G>A	(Likely) benign	1 lab	fa2764ffb0
7:98550994 TRRAP G>A	7	98550994	98550994	G	A	TRRAP	c.5647G>A	NM_001244580.1	NP_001231509.1:p.(Gly1883Arg)	NC_000007.13:g.98550994G>A	VUS	1 lab	fa27da4f2d
X:152991011 BCAP31 A>C	X	152991011	152991011	A	C	BCAP31				NC_000023.10:g.152991011A>C	(Likely) pathogenic	1 lab	fa2bd31163
17:7751602 KDM6B C>T	17	7751602	7751602	C	T	KDM6B	c.1996C>T	NM_001348716.2	NP_001335645.1:p.(Arg666Ter)	NC_000017.10:g.7751602C>T	(Likely) pathogenic	1 lab	fa2f0a13f9
1:3348556 PRDM16 T>C	1	3348556	3348556	T	C	PRDM16	c.3548T>C	NM_022114.3	NP_071397.3:p.(Leu1183Pro)	NC_000001.10:g.3348556T>C	VUS	1 lab	fa2f6358a6
19:50920512 POLD1 C>T	19	50920512	50920512	C	T	POLD1	c.3204C>T	NM_002691.4	NP_002682.2:p.(Asp1068=)	NC_000019.9:g.50920512C>T	(Likely) benign	1 lab	1924476941
12:52162891 SCN8A C>T	12	52162891	52162891	C	T	SCN8A	c.3144C>T	NM_001330260.2	NP_001317189.1:p.(His1048=)	NC_000012.11:g.52162891C>T	(Likely) benign	1 lab	fa30ec3390
4:120072233 MYOZ2 G>C	4	120072233	120072233	G	C	MYOZ2	c.246+37G>C	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120072233G>C	(Likely) benign	1 lab	fa320ef1e2
7:98556962 TRRAP C>T	7	98556962	98556962	C	T	TRRAP	c.6322-5C>T	NM_001244580.1	NP_001231509.1:p.?	NC_000007.13:g.98556962C>T	(Likely) benign	1 lab	fa33894a5f
1:179530455 NPHS2 TC>T	1	179530455	179530458	TC	T	NPHS2	c.419del	NM_014625.3	NP_055440.1:p.(Gly140AspfsTer41)	NC_000001.10:g.179530458del	(Likely) pathogenic	1 lab	fa373df9fb
X:79932344 BRWD3 G>A	X	79932344	79932344	G	A	BRWD3	c.5173C>T	NM_153252.4	NP_694984.4:p.(Arg1725Ter)	NC_000023.10:g.79932344G>A	VUS	1 lab	fa3fbf4bd6
17:33430259 RAD51D G>A	17	33430259	33430259	G	A	RAD51D	c.738+14C>T	NM_002878.3	NP_002869.3:p.?	NC_000017.10:g.33430259G>A	(Likely) benign	1 lab	fa43c92a3d
22:42610319 TCF20 A>T	22	42610319	42610319	A	T	TCF20	c.993T>A	NM_005650.3	NP_005641.1:p.(Tyr331Ter)	NC_000022.10:g.42610319A>T	(Likely) pathogenic	1 lab	fa446bcda6
7:92732940 SAMD9 C>T	7	92732940	92732940	C	T	SAMD9	c.2471G>A	NM_017654.3	NP_060124.2:p.(Arg824Gln)	NC_000007.13:g.92732940C>T	(Likely) pathogenic	1 lab	fa98278f57
5:137735585 KDM3B G>A	5	137735585	137735585	G	A	KDM3B	c.3083G>A	NM_016604.3	NP_057688.2:p.(Arg1028Gln)	NC_000005.9:g.137735585G>A	(Likely) pathogenic	1 lab	fa4738a8eb
3:4716836 ITPR1 A>G	3	4716836	4716836	A	G	ITPR1	c.2638A>G	NM_002222.5	NP_002213.5:p.(Ile880Val)	NC_000003.11:g.4716836A>G	VUS	1 lab	fa47419a77
12:44165165 IRAK4 C>G	12	44165165	44165165	C	G	IRAK4	c.304C>G	NM_016123.4	NP_057207.2:p.(Pro102Ala)	NC_000012.11:g.44165165C>G	VUS	1 lab	fa4aa50b11
17:59857608 BRIP1 A>C	17	59857608	59857608	A	C	BRIP1	c.1935+14T>G	NM_032043.3	NP_114432.2:p.?	NC_000017.10:g.59857608A>C	(Likely) benign	1 lab	fa4b20c7de
16:88884476 GALNS T>G	16	88884476	88884476	T	G	GALNS	c.1421A>C	NM_000512.4	NP_000503.1:p.(Gln474Pro)	NC_000016.9:g.88884476T>G	VUS	1 lab	fa4ef184f0
17:57774823 PTRH2 T>G	17	57774823	57774823	T	G	PTRH2	c.517A>C	NM_016077.4	NP_057161.1:p.(Thr173Pro)	NC_000017.10:g.57774823T>G	VUS	1 lab	fa4efa6ea1
16:83813594 CDH13 C>G	16	83813594	83813594	C	G	CDH13	c.1844C>G	NM_001220488.1	NP_001207417.1:p.(Thr615Ser)	NC_000016.9:g.83813594C>G	VUS	1 lab	fa4f87109f
X:70339336 MED12 ACT>A	X	70339336	70339340	ACT	A	MED12	c.204+12_204+13del	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70339339_70339340del	(Likely) benign	1 lab	1929c43e25
X:585131 SHOX T>TGGG	X	585131	585132	T	TGGG	SHOX	c.-639_-638insGGG	NM_000451.3	NP_000442.1:p.?	NC_000023.10:g.585131_585132insGGG	(Likely) benign	1 lab	fa5cdc0516
14:23883310 MYH7 G>T	14	23883310	23883310	G	T	MYH7	c.5561C>A	NM_000257.2	NP_000248.2:p.(Thr1854Lys)	NC_000014.8:g.23883310G>T	VUS	1 lab	196385338c
2:48028030 MSH6 T>TG	2	48028030	48028035	T	TG	MSH6	c.2913dup	NM_000179.3	NP_000170.1:p.(Ile972AspfsTer3)	NC_000002.11:g.48028035dup	(Likely) pathogenic	1 lab	18676062ed
1:241682990 FH C>G	1	241682990	241682990	C	G	FH				NC_000001.10:g.241682990C>G	(Likely) benign	1 lab	fa61f8e755
1:180775667 XPR1 C>T	1	180775667	180775667	C	T	XPR1	c.655C>T	NM_004736.3	NP_004727.2:p.(Arg219Cys)	NC_000001.10:g.180775667C>T	VUS	1 lab	fa639a9b6a
10:112404294 RBM20 G>A	10	112404294	112404294	G	A	RBM20	c.82G>A	NM_001134363.2	NP_001127835.2:p.(Gly28Ser)	NC_000010.10:g.112404294G>A	VUS	1 lab	fa63e81d83
15:48714179 FBN1 C>T	15	48714179	48714179	C	T	FBN1	c.7540G>A	NM_000138.4	NP_000129.3:p.(Gly2514Arg)	NC_000015.9:g.48714179C>T	(Likely) pathogenic	1 lab	fa65727138
3:121980242 CASR T>C	3	121980242	121980242	T	C	CASR	c.493-133T>C	NM_001178065.2	NP_001171536.2:p.?	NC_000003.11:g.121980242T>C	(Likely) benign	1 lab	1931234584
12:110719662 ATP2A2 G>A	12	110719662	110719662	G	A	ATP2A2	c.68G>A	NM_170665.4	NP_733765.1:p.(Gly23Glu)	NC_000012.11:g.110719662G>A	(Likely) pathogenic	1 lab	fa6aa658f6
11:61539202 MYRF C>T	11	61539202	61539202	C	T	MYRF	c.971C>T	NM_001127392.3	NP_001120864.1:p.(Pro324Leu)	NC_000011.9:g.61539202C>T	(Likely) benign	1 lab	186aac6e9a
3:30713567 TGFBR2 A>G	3	30713567	30713567	A	G	TGFBR2	c.967A>G	NM_001024847.2	NP_001020018.1:p.(Asn323Asp)	NC_000003.11:g.30713567A>G	(Likely) benign	1 lab	fa6d949617
1:228475491 OBSCN C>G	1	228475491	228475491	C	G	OBSCN	c.9641C>G	NM_052843.3	NP_443075.3:p.(Pro3214Arg)	NC_000001.10:g.228475491C>G	VUS	1 lab	fa6e46469e
4:55593613 KIT T>G	4	55593613	55593613	T	G	KIT	c.1679T>G	NM_000222.3	NP_000213.1:p.(Val560Gly)	NC_000004.11:g.55593613T>G	(Likely) pathogenic	1 lab	186ab6cc60
1:202569599 SYT2 C>A	1	202569599	202569599	C	A	SYT2	c.805G>T	NM_177402.4	NP_796376.2:p.(Glu269Ter)	NC_000001.10:g.202569599C>A	VUS	1 lab	fa74564487
10:76781789 KAT6B C>T	10	76781789	76781789	C	T	KAT6B	c.3172C>T	NM_012330.3	NP_036462.2:p.(Arg1058Ter)	NC_000010.10:g.76781789C>T	(Likely) pathogenic	1 lab	fa74d04cc3
10:126094075 OAT C>T	10	126094075	126094075	C	T	OAT				NC_000010.10:g.126094075C>T	VUS	1 lab	fc4f056390
12:111352113 MYL2 ACT>A	12	111352113	111352116	ACT	A	MYL2	c.170-21_170-20del	NM_000432.3	NP_000423.2:p.?	NC_000012.11:g.111352115_111352116del	(Likely) benign	1 lab	fa7674da07
19:39063803 RYR1 C>T	19	39063803	39063803	C	T	RYR1	c.13999-14C>T	NM_000540.2	NP_000531.2:p.?	NC_000019.9:g.39063803C>T	(Likely) benign	1 lab	fa771fd8b4
X:153599601 FLNA G>A	X	153599601	153599601	G	A	FLNA	c.13C>T	NM_001110556.2	NP_001104026.1:p.(His5Tyr)	NC_000023.10:g.153599601G>A	(Likely) benign	1 lab	1933ed8226
8:38279432 FGFR1 CTT>C	8	38279432	38279435	CTT	C	FGFR1	c.962_963del	NM_023110.2	NP_075598.2:p.(Lys321ArgfsTer13)	NC_000008.10:g.38279434_38279435del	(Likely) pathogenic	1 lab	fa7c4fa7bb
10:89717759 MISSING A>G	10	89717759	89717759	A	G	MISSING				NC_000010.10:g.89717759A>G	VUS	1 lab	fa7e4e3286
22:46859834 CELSR1 C>T	22	46859834	46859834	C	T	CELSR1	c.3953G>A	NM_001378328.1	NP_001365257.1:p.(Cys1318Tyr)	NC_000022.10:g.46859834C>T	VUS	1 lab	fa7eb63233
2:32477473 NLRC4 C>T	2	32477473	32477473	C	T	NLRC4	c.262+15G>A	NM_021209.4	NP_067032.3:p.?	NC_000002.11:g.32477473C>T	(Likely) benign	1 lab	193a44dcc9
7:27239184 HOXA13 A>C	7	27239184	27239184	A	C	HOXA13	c.513T>G	NM_000522.5	NP_000513.2:p.(Tyr171Ter)	NC_000007.13:g.27239184A>C	(Likely) pathogenic	1 lab	fa81e9fdd5
10:96317890 HELLS T>A	10	96317890	96317890	T	A	HELLS	c.277-6T>A	NM_018063.5	NP_060533.2:p.?	NC_000010.10:g.96317890T>A	(Likely) benign	1 lab	193af3c4d0
17:41196556 BRCA1 C>A	17	41196556	41196556	C	A	BRCA1	c.*1139G>T	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41196556C>A	VUS	1 lab	fa8b7c1297
2:99012747 CNGA3 C>G	2	99012747	99012747	C	G	CNGA3	c.1114C>G	NM_001298.3	NP_001289.1:p.(Pro372Ala)	NC_000002.11:g.99012747C>G	VUS	1 lab	fa8be17631
20:33586840 MYH7B G>A	20	33586840	33586840	G	A	MYH7B	c.4317-19G>A	NM_020884.4	NP_065935.3:p.?	NC_000020.10:g.33586840G>A	(Likely) benign	1 lab	fa8c6bf67a
5:180041208 FLT4 T>C	5	180041208	180041208	T	C	FLT4	c.3220-29A>G	NM_182925.4	NP_891555.2:p.?	NC_000005.9:g.180041208T>C	VUS	1 lab	fa8fa94e27
6:91263297 MAP3K7 A>C	6	91263297	91263297	A	C	MAP3K7				NC_000006.11:g.91263297A>C	VUS	1 lab	fa9261213d
5:11159842 CTNND2 C>T	5	11159842	11159842	C	T	CTNND2				NC_000005.9:g.11159842C>T	(Likely) benign	1 lab	fa93fe1318
6:47567146 CD2AP GATTCACT>G	6	47567146	47567153	GATTCACT	G	CD2AP	c.1385_1391del	NM_012120.3	NP_036252.1:p.(Asp462ValfsTer3)	NC_000006.11:g.47567147_47567153del	(Likely) pathogenic	1 lab	1940a95ca3
17:56809835 RAD51C C>T	17	56809835	56809835	C	T	RAD51C	c.966-10C>T	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56809835C>T	(Likely) benign	1 lab	fa97d161e1
1:94509026 ABCA4 G>A	1	94509026	94509026	G	A	ABCA4	c.3056C>T	NM_000350.2	NP_000341.2:p.(Thr1019Met)	NC_000001.10:g.94509026G>A	(Likely) pathogenic	1 lab	fa98f4aac0
17:40483518 STAT3 G>C	17	40483518	40483518	G	C	STAT3	c.1081C>G	NM_139276.2	NP_644805.1:p.(Gln361Glu)	NC_000017.10:g.40483518G>C	VUS	1 lab	fa999cd7ef
3:38793683 SCN10A G>A	3	38793683	38793683	G	A	SCN10A	c.1755+27C>T	NM_006514.3	NP_006505.3:p.?	NC_000003.11:g.38793683G>A	(Likely) benign	1 lab	fa9c5e4272
6:33142311 COL11A2 C>T	6	33142311	33142311	C	T	COL11A2	c.2423G>A	NM_080680.2	NP_542411.2:p.(Gly808Glu)	NC_000006.11:g.33142311C>T	(Likely) pathogenic	1 lab	fa9f00a3e1
3:12650322 RAF1 T>C	3	12650322	12650322	T	C	RAF1	c.524A>G	NM_002880.3	NP_002871.1:p.(His175Arg)	NC_000003.11:g.12650322T>C	(Likely) pathogenic	1 lab	fa9f757e8c
3:12645688 RAF1 G>T	3	12645688	12645688	G	T	RAF1	c.781C>A	NM_002880.3	NP_002871.1:p.(Pro261Thr)	NC_000003.11:g.12645688G>T	(Likely) pathogenic	1 lab	fa9fe1aca3
2:166893027 SCN1A AAG>A	2	166893027	166893032	AAG	A	SCN1A	c.2958_2959del	NM_001165963.2	NP_001159435.1:p.(Phe987SerfsTer9)	NC_000002.11:g.166893031_166893032del	(Likely) pathogenic	1 lab	faa0f377ae
4:77660661 SHROOM3 A>G	4	77660661	77660661	A	G	SHROOM3	c.1335A>G	NM_020859.3	NP_065910.3:p.(Pro445=)	NC_000004.11:g.77660661A>G	(Likely) benign	1 lab	faa21b6338
21:41447003 DSCAM G>A	21	41447003	41447003	G	A	DSCAM	c.4849C>T	NM_001389.3	NP_001380.2:p.(Arg1617Trp)	NC_000021.8:g.41447003G>A	VUS	1 lab	faa3e532fb
4:79434609 FRAS1 G>A	4	79434609	79434609	G	A	FRAS1	c.10077G>A	NM_025074.7	NP_079350.5:p.(Pro3359=)	NC_000004.11:g.79434609G>A	(Likely) benign	1 lab	1945c9cfe0
13:49047531 RB1 G>A	13	49047531	49047531	G	A	RB1	c.2520+5G>A	NM_000321.3	NP_000312.2:p.?	NC_000013.10:g.49047531G>A	(Likely) pathogenic	1 lab	186cc4b1da
14:23892819 MYH7 G>T	14	23892819	23892819	G	T	MYH7	c.3036C>A	NM_000257.2	NP_000248.2:p.(Ala1012=)	NC_000014.8:g.23892819G>T	(Likely) benign	1 lab	faa56a8c57
11:108138066 ATM A>G	11	108138066	108138066	A	G	ATM	c.2635A>G	NM_000051.4	NP_000042.3:p.(Ile879Val)	NC_000011.9:g.108138066A>G	(Likely) benign	1 lab	faab078787
19:35786868 MAG C>T	19	35786868	35786868	C	T	MAG	c.399C>T	NM_002361.4	NP_002352.1:p.(Ser133=)	NC_000019.9:g.35786868C>T	(Likely) benign	1 lab	1946133808
1:204093808 SOX13 C>A	1	204093808	204093808	C	A	SOX13	c.1415C>A	NM_005686.2	NP_005677.2:p.(Pro472His)	NC_000001.10:g.204093808C>A	VUS	1 lab	fab3d48597
12:64062065 DPY19L2 T>C	12	64062065	64062065	T	C	DPY19L2	c.109A>G	NM_173812.5	NP_776173.3:p.(Met37Val)	NC_000012.11:g.64062065T>C	(Likely) benign	1 lab	18735e2553
2:241808792 AGXT C>T	2	241808792	241808792	C	T	AGXT	c.358+13C>T	NM_000030.2	NP_000021.1:p.?	NC_000002.11:g.241808792C>T	(Likely) benign	1 lab	fab74d61f4
4:5785416 EVC G>A	4	5785416	5785416	G	A	EVC	c.1701G>A	NM_153717.2	NP_714928.1:p.(Trp567Ter)	NC_000004.11:g.5785416G>A	(Likely) pathogenic	1 lab	fabb4fd6d9
7:4827330 AP5Z1 C>T	7	4827330	4827330	C	T	AP5Z1				NC_000007.13:g.4827330C>T	(Likely) benign	1 lab	fabe3e62cb
2:27461392 CAD C>T	2	27461392	27461392	C	T	CAD	c.4954C>T	NM_004341.5	NP_004332.2:p.(Arg1652Cys)	NC_000002.11:g.27461392C>T	VUS	1 lab	fabf339634
17:41215884 BRCA1 T>C	17	41215884	41215884	T	C	BRCA1	c.5152+7A>G	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41215884T>C	VUS	1 lab	18752dd5c7
1:52863371 ORC1 T>A	1	52863371	52863371	T	A	ORC1	c.388A>T	NM_004153.4	NP_004144.2:p.(Ile130Phe)	NC_000001.10:g.52863371T>A	VUS	1 lab	1878edb866
9:71842717 TJP2 C>T	9	71842717	71842717	C	T	TJP2	c.1247C>T	NM_004817.4	NP_004808.2:p.(Pro416Leu)	NC_000009.11:g.71842717C>T	VUS	1 lab	187adc2820
14:88852165 SPATA7 G>T	14	88852165	88852165	G	T	SPATA7	c.3G>T	NM_018418.5	NP_060888.2:p.(Met1?)	NC_000014.8:g.88852165G>T	(Likely) pathogenic	1 lab	fac25dc307
1:9770625 PIK3CD C>T	1	9770625	9770625	C	T	PIK3CD	c.112C>T	NM_005026.3	NP_005017.3:p.(Arg38Cys)	NC_000001.10:g.9770625C>T	(Likely) benign	1 lab	fac2bdd4ee
2:32341186 SPAST A>C	2	32341186	32341186	A	C	SPAST	c.1005-2A>C	NM_014946.4	NP_055761.2:p.?	NC_000002.11:g.32341186A>C	(Likely) pathogenic	1 lab	facbc445e7
2:106002780 FHL2 G>A	2	106002780	106002780	G	A	FHL2	c.156+38C>T	NM_201555.1	NP_963849.1:p.?	NC_000002.11:g.106002780G>A	(Likely) benign	1 lab	face67e4f4
2:86509337 REEP1 A>G	2	86509337	86509337	A	G	REEP1	c.82T>C	NM_001164730.1	NP_001158202.1:p.(Tyr28His)	NC_000002.11:g.86509337A>G	VUS	1 lab	fad0ac05c3
3:181430953 SOX2 G>GA	3	181430953	181430954	G	GA	SOX2	c.806dup	NM_003106.3	NP_003097.1:p.(Asp269GlufsTer41)	NC_000003.11:g.181430954dup	(Likely) pathogenic	1 lab	fad1d379ee
X:69253247 EDA G>A	X	69253247	69253247	G	A	EDA	c.794-1G>A	NM_001399.5	NP_001390.1:p.?	NC_000023.10:g.69253247G>A	(Likely) pathogenic	1 lab	187f29b5e1
3:46899387 MYL3 T>C	3	46899387	46899387	T	C	MYL3	c.*218A>G	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899387T>C	(Likely) benign	1 lab	fad4e49926
19:36342267 NPHS1 G>A	19	36342267	36342267	G	A	NPHS1	c.294C>T	NM_004646.3	NP_004637.1:p.(Ile98=)	NC_000019.9:g.36342267G>A	(Likely) benign	1 lab	fad5af30d7
19:38989871 RYR1 G>A	19	38989871	38989871	G	A	RYR1	c.7015G>A	NM_000540.2	NP_000531.2:p.(Val2339Ile)	NC_000019.9:g.38989871G>A	VUS	1 lab	fad5d5ddd1
12:53875019 MAP3K12 C>T	12	53875019	53875019	C	T	MAP3K12	c.2626G>A	NM_001193511.2	NP_001180440.1:p.(Asp876Asn)	NC_000012.11:g.53875019C>T	VUS	1 lab	fad6146b8a
11:76912584 MYO7A G>A	11	76912584	76912584	G	A	MYO7A	c.4944G>A	NM_000260.3	NP_000251.3:p.(Trp1648Ter)	NC_000011.9:g.76912584G>A	(Likely) pathogenic	1 lab	fad9d0eca1
1:196694290 CFH T>C	1	196694290	196694290	T	C	CFH	c.1736T>C	NM_000186.4	NP_000177.2:p.(Val579Ala)	NC_000001.10:g.196694290T>C	VUS	1 lab	fae03632c9
6:3225134 TUBB2B A>G	6	3225134	3225134	A	G	TUBB2B	c.1189T>C	NM_178012.4	NP_821080.1:p.(Trp397Arg)	NC_000006.11:g.3225134A>G	(Likely) pathogenic	1 lab	fae07196d6
9:14851089 FREM1 C>T	9	14851089	14851089	C	T	FREM1	c.1152+193G>A	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14851089C>T	(Likely) benign	1 lab	1951c4226f
7:114268621 FOXP2 T>C	7	114268621	114268621	T	C	FOXP2	c.360T>C	NM_148898.3	NP_683696.2:p.(Thr120=)	NC_000007.13:g.114268621T>C	VUS	1 lab	fae0bfdd4d
6:79770421 PHIP C>T	6	79770421	79770421	C	T	PHIP	c.304G>A	NM_017934.7	NP_060404.4:p.(Gly102Arg)	NC_000006.11:g.79770421C>T	VUS	1 lab	fafbe60c9f
11:65319533 LTBP3 A>G	11	65319533	65319533	A	G	LTBP3	c.1441T>C	NM_001130144.3	NP_001123616.1:p.(Phe481Leu)	NC_000011.9:g.65319533A>G	(Likely) benign	1 lab	fae2b7f4ed
3:53155810 RFT1 C>A	3	53155810	53155810	C	A	RFT1	c.463G>T	NM_052859.3	NP_443091.1:p.(Ala155Ser)	NC_000003.11:g.53155810C>A	VUS	1 lab	fae2c9c51a
17:29509604 NF1 A>C	17	29509604	29509604	A	C	NF1	c.809A>C	NM_000267.3	NP_000258.1:p.(Gln270Pro)	NC_000017.10:g.29509604A>C	VUS	1 lab	fae70736a6
10:88649940 BMPR1A C>A	10	88649940	88649940	C	A	BMPR1A	c.189C>A	NM_004329.2	NP_004320.2:p.(Cys63Ter)	NC_000010.10:g.88649940C>A	(Likely) pathogenic	1 lab	fae81023b0
18:48591919 SMAD4 G>A	18	48591919	48591919	G	A	SMAD4				NC_000018.9:g.48591919G>A	(Likely) pathogenic	1 lab	fae8b65f41
X:67433775 OPHN1 C>CT	X	67433775	67433776	C	CT	OPHN1	c.525_526insA	NM_002547.2	NP_002538.1:p.(Glu176ArgfsTer5)	NC_000023.10:g.67433775_67433776insT	(Likely) pathogenic	1 lab	faeba78fa5
1:154145447 TPM3 C>T	1	154145447	154145447	C	T	TPM3	c.503G>A	NM_152263.3	NP_689476.2:p.(Arg168His)	NC_000001.10:g.154145447C>T	(Likely) pathogenic	1 lab	faeddd85ce
16:23649504 PALB2 G>A	16	23649504	23649504	G	A	PALB2	c.49-54C>T	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23649504G>A	(Likely) benign	1 lab	faf0a34deb
10:73573038 CDH23 G>A	10	73573038	73573038	G	A	CDH23	c.9671G>A	NM_022124.6	NP_071407.4:p.(Arg3224Gln)	NC_000010.10:g.73573038G>A	VUS	1 lab	1887fe7876
1:171083398 FMO3 T>C	1	171083398	171083398	T	C	FMO3	c.1079T>C	NM_001002294.3	NP_001002294.1:p.(Leu360Pro)	NC_000001.10:g.171083398T>C	(Likely) benign	1 lab	faf834ec1d
2:228012128 COL4A4 C>T	2	228012128	228012128	C	T	COL4A4	c.71+1G>A	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.228012128C>T	(Likely) pathogenic	1 lab	fafa525d0f
5:149758492 TCOF1 C>T	5	149758492	149758492	C	T	TCOF1	c.2365C>T	NM_001135243.1	NP_001128715.1:p.(Gln789Ter)	NC_000005.9:g.149758492C>T	(Likely) pathogenic	1 lab	fafaccfe08
8:102631813 GRHL2 A>T	8	102631813	102631813	A	T	GRHL2	c.1145A>T	NM_024915.4	NP_079191.2:p.(Lys382Ile)	NC_000008.10:g.102631813A>T	VUS	1 lab	fafaf07ced
15:43023482 CDAN1 T>C	15	43023482	43023482	T	C	CDAN1	c.1787A>G	NM_138477.2	NP_612486.2:p.(Gln596Arg)	NC_000015.9:g.43023482T>C	(Likely) benign	1 lab	faff1167ae
14:35483111 SRP54 A>C	14	35483111	35483111	A	C	SRP54	c.886+3A>C	NM_003136.4	NP_003127.1:p.?	NC_000014.8:g.35483111A>C	VUS	1 lab	188fa13768
X:64947683 MSN A>G	X	64947683	64947683	A	G	MSN	c.104A>G	NM_002444.3	NP_002435.1:p.(Lys35Arg)	NC_000023.10:g.64947683A>G	VUS	1 lab	189163d5a8
1:215848808 USH2A A>G	1	215848808	215848808	A	G	USH2A				NC_000001.10:g.215848808A>G	(Likely) benign	1 lab	fb042ed664
2:47630500 MSH2 T>G	2	47630500	47630500	T	G	MSH2	c.170T>G	NM_000251.3	NP_000242.1:p.(Val57Gly)	NC_000002.11:g.47630500T>G	VUS	1 lab	fb04f38fe8
8:143996616 CYP11B2 A>T	8	143996616	143996616	A	T	CYP11B2	c.441T>A	NM_000498.3	NP_000489.3:p.(Asp147Glu)	NC_000008.10:g.143996616A>T	(Likely) benign	1 lab	fb0796b508
7:2959065 CARD11 C>T	7	2959065	2959065	C	T	CARD11	c.2451G>A	NM_032415.6	NP_115791.3:p.(Ala817=)	NC_000007.13:g.2959065C>T	(Likely) benign	1 lab	1950ebae8d
5:180043464 FLT4 C>T	5	180043464	180043464	C	T	FLT4	c.3122G>A	NM_182925.4	NP_891555.2:p.(Arg1041Gln)	NC_000005.9:g.180043464C>T	VUS	1 lab	fb115a4ea1
5:112174867 APC ACAGT>A	5	112174867	112174873	ACAGT	A	APC	c.3579_3582del	NM_000038.6	NP_000029.2:p.(Gln1193HisfsTer71)	NC_000005.9:g.112174870_112174873del	(Likely) pathogenic	1 lab	fb1671c3ff
11:47470345 RAPSN G>A	11	47470345	47470345	G	A	RAPSN				NC_000011.9:g.47470345G>A	(Likely) benign	1 lab	fb16b15265
1:196684722 CFH G>A	1	196684722	196684722	G	A	CFH	c.1520-1G>A	NM_000186.4	NP_000177.2:p.?	NC_000001.10:g.196684722G>A	(Likely) pathogenic	1 lab	fb16cc558d
5:149637178 CAMK2A G>A	5	149637178	149637178	G	A	CAMK2A	c.220C>T	NM_015981.4	NP_057065.2:p.(Arg74Ter)	NC_000005.9:g.149637178G>A	(Likely) pathogenic	1 lab	fb176e277f
1:241671952 FH T>C	1	241671952	241671952	T	C	FH	c.689A>G	NM_000143.3	NP_000134.2:p.(Lys230Arg)	NC_000001.10:g.241671952T>C	(Likely) pathogenic	1 lab	fb1a0b8379
15:91346923 BLM C>A	15	91346923	91346923	C	A	BLM				NC_000015.9:g.91346923C>A	(Likely) benign	1 lab	fb1f4b83ba
16:23646385 PALB2 A>G	16	23646385	23646385	A	G	PALB2	c.1482T>C	NM_024675.4	NP_078951.2:p.(Thr494=)	NC_000016.9:g.23646385A>G	(Likely) benign	1 lab	fb1f86fd40
2:179400083 TTN A>C	2	179400083	179400083	A	C	TTN	c.101259T>G	NM_001267550.2	NP_001254479.2:p.(Phe33753Leu)	NC_000002.11:g.179400083A>C	VUS	1 lab	fb201297f3
15:43026540 CDAN1 G>A	15	43026540	43026540	G	A	CDAN1	c.1141C>T	NM_138477.2	NP_612486.2:p.(Leu381Phe)	NC_000015.9:g.43026540G>A	VUS	1 lab	fb201c1d61
6:32055699 TNXB G>T	6	32055699	32055699	G	T	TNXB	c.2779+863C>A	NM_001365276.2	NP_001352205.1:p.?	NC_000006.11:g.32055699G>T	(Likely) benign	1 lab	fb21fe43eb
5:112174370 APC T>G	5	112174370	112174370	T	G	APC	c.3079T>G	NM_000038.5	NP_000029.2:p.(Tyr1027Asp)	NC_000005.9:g.112174370T>G	VUS	1 lab	fb241d057f
3:37090443 MLH1 T>C	3	37090443	37090443	T	C	MLH1	c.2038T>C	NM_000249.3	NP_000240.1:p.(Cys680Arg)	NC_000003.11:g.37090443T>C	(Likely) pathogenic	1 lab	fb4a3b8da7
2:179665245 TTN G>A	2	179665245	179665245	G	A	TTN	c.460C>T	NM_001267550.2	NP_001254479.2:p.(Gln154Ter)	NC_000002.11:g.179665245G>A	(Likely) pathogenic	1 lab	fb2d263a0d
2:179456187 TTN C>T	2	179456187	179456187	C	T	TTN	c.60265G>A	NM_001267550.2	NP_001254479.2:p.(Val20089Met)	NC_000002.11:g.179456187C>T	VUS	1 lab	fb302d6a85
2:25463286 DNMT3A C>G	2	25463286	25463286	C	G	DNMT3A	c.2207G>C	NM_022552.4	NP_072046.2:p.(Arg736Pro)	NC_000002.11:g.25463286C>G	(Likely) pathogenic	1 lab	fb30db87a1
1:171083478 FMO3 C>T	1	171083478	171083478	C	T	FMO3	c.1159C>T	NM_001002294.2	NP_001002294.1:p.(Arg387Cys)	NC_000001.10:g.171083478C>T	VUS	1 lab	fb356b40a9
1:237957276 RYR2 A>T	1	237957276	237957276	A	T	RYR2	c.13892A>T	NM_001035.3	NP_001026.2:p.(Asp4631Val)	NC_000001.10:g.237957276A>T	(Likely) pathogenic	1 lab	fb3696f8ac
18:25570101 CDH2 T>C	18	25570101	25570101	T	C	CDH2	c.1558A>G	NM_001792.5	NP_001783.2:p.(Thr520Ala)	NC_000018.9:g.25570101T>C	VUS	1 lab	18a68a0df0
16:732364 STUB1 CGT>C	16	732364	732369	CGT	C	STUB1	c.791_792del	NM_005861.3	NP_005852.2:p.(Val264GlyfsTer4)	NC_000016.9:g.732368_732369del	(Likely) pathogenic	1 lab	fb3a9ebe47
22:42607870 TCF20 G>A	22	42607870	42607870	G	A	TCF20	c.3442C>T	NM_005650.4	NP_005641.1:p.(Pro1148Ser)	NC_000022.10:g.42607870G>A	VUS	1 lab	18a8483c4d
4:651287 PDE6B C>T	4	651287	651287	C	T	PDE6B	c.1401+4C>T	NM_000283.3	NP_000274.2:p.?	NC_000004.11:g.651287C>T	(Likely) benign	1 lab	fb3df138f1
12:32945721 PKP2 G>T	12	32945721	32945721	G	T	PKP2	c.2490-56C>A	NM_004572.3	NP_004563.2:p.?	NC_000012.11:g.32945721G>T	(Likely) benign	1 lab	fb41fa99bb
13:100861643 PCCA G>A	13	100861643	100861643	G	A	PCCA	c.526G>A	NM_000282.3	NP_000273.2:p.(Asp176Asn)	NC_000013.10:g.100861643G>A	VUS	1 lab	fb456d926e
X:13757013 OFD1 T>TC	X	13757013	13757015	T	TC	OFD1	c.363dup	NM_003611.2	NP_003602.1:p.(Ser122GlnfsTer11)	NC_000023.10:g.13757015dup	(Likely) pathogenic	1 lab	fb472f80c0
6:152557981 SYNE1 T>C	6	152557981	152557981	T	C	SYNE1				NC_000006.11:g.152557981T>C	VUS	1 lab	fd02f2a10b
2:163133342 IFIH1 C>T	2	163133342	163133342	C	T	IFIH1	c.2159G>A	NM_022168.3	NP_071451.2:p.(Arg720Gln)	NC_000002.11:g.163133342C>T	(Likely) pathogenic	1 lab	fb4d4df4b1
13:32900736 BRCA2 C>G	13	32900736	32900736	C	G	BRCA2	c.617C>G	NM_000059.3	NP_000050.2:p.(Ser206Cys)	NC_000013.10:g.32900736C>G	VUS	1 lab	fb4d61988f
11:108150313 ATM C>G	11	108150313	108150313	C	G	ATM	c.3380C>G	NM_000051.4	NP_000042.3:p.(Ala1127Gly)	NC_000011.9:g.108150313C>G	(Likely) benign	1 lab	fb4e5a8408
14:20920293 OSGEP G>A	14	20920293	20920293	G	A	OSGEP	c.251C>T	NM_017807.3	NP_060277.1:p.(Ala84Val)	NC_000014.8:g.20920293G>A	VUS	1 lab	fb4f843c6d
2:149247159 MBD5 G>T	2	149247159	149247159	G	T	MBD5				NC_000002.11:g.149247159G>T	(Likely) benign	1 lab	fb53212e90
17:29653015 NF1 C>G	17	29653015	29653015	C	G	NF1	c.5013C>G	NM_001042492.3	NP_001035957.1:p.(Tyr1671Ter)	NC_000017.10:g.29653015C>G	(Likely) pathogenic	1 lab	fb54e7c904
2:131356493 CFC1 ATT>GTG	2	131356493	131356495	ATT	GTG	CFC1	c.61_63delinsCAC	NM_032545.3	NP_115934.1:p.(Asn21His)	NC_000002.11:g.131356493_131356495delinsGTG	VUS	1 lab	fb55683e4f
2:215674142 BARD1 G>A	2	215674142	215674142	G	A	BARD1	c.152C>T	NM_000465.4	NP_000456.2:p.(Ser51Leu)	NC_000002.11:g.215674142G>A	VUS	1 lab	18acab9afc
8:100831593 VPS13B C>T	8	100831593	100831593	C	T	VPS13B	c.8697-47C>T	NM_017890.4	NP_060360.3:p.?	NC_000008.10:g.100831593C>T	(Likely) benign	1 lab	19539fb73f
2:168097170 XIRP2 A>T	2	168097170	168097170	A	T	XIRP2	c.970-4A>T	NM_152381.5	NP_689594.4:p.?	NC_000002.11:g.168097170A>T	(Likely) benign	1 lab	fb5bb726f1
3:176782731 TBL1XR1 A>T	3	176782731	176782731	A	T	TBL1XR1	c.35T>A	NM_001321194.1	NP_001308123.1:p.(Val12Glu)	NC_000003.11:g.176782731A>T	VUS	1 lab	fb5d97ebb0
6:73900388 KCNQ5 A>G	6	73900388	73900388	A	G	KCNQ5	c.1727A>G	NM_001160133.1	NP_001153605.1:p.(His576Arg)	NC_000006.11:g.73900388A>G	VUS	1 lab	fb66311dd6
2:74802709 M1AP AG>A	2	74802709	74802711	AG	A	M1AP	c.933-4del	NM_138804.5	NP_620159.2:p.?	NC_000002.11:g.74802711del	(Likely) benign	1 lab	18b5d30fb1
7:151329184 PRKAG2 A>T	7	151329184	151329184	A	T	PRKAG2	c.725T>A	NM_016203.4	NP_057287.2:p.(Met242Lys)	NC_000007.13:g.151329184A>T	(Likely) benign	1 lab	fb6c99ff07
X:10417660 MID1 C>T	X	10417660	10417660	C	T	MID1	c.1752G>A	NM_000381.3	NP_000372.1:p.(Trp584Ter)	NC_000023.10:g.10417660C>T	(Likely) pathogenic	1 lab	fb6cb9d9e6
1:196762665 CFHR3 G>A	1	196762665	196762665	G	A	CFHR3	c.*22G>A	NM_021023.5	NP_066303.2:p.?	NC_000001.10:g.196762665G>A	(Likely) benign	1 lab	195513325d
1:94568599 ABCA4 A>T	1	94568599	94568599	A	T	ABCA4	c.542T>A	NM_000350.3	NP_000341.2:p.(Leu181Gln)	NC_000001.10:g.94568599A>T	VUS	1 lab	fb760f246d
1:94526258 ABCA4 G>T	1	94526258	94526258	G	T	ABCA4	c.1995C>A	NM_000350.3	NP_000341.2:p.(Tyr665Ter)	NC_000001.10:g.94526258G>T	(Likely) pathogenic	1 lab	fb778b50c9
1:155154372 MISSING C>T	1	155154372	155154372	C	T	MISSING				NC_000001.10:g.155154372C>T	VUS	1 lab	fb77ffb463
19:13342589 CACNA1A G>A	19	13342589	13342589	G	A	CACNA1A	c.5338C>T	NM_001127221.1	NP_001120693.1:p.(Arg1780Ter)	NC_000019.9:g.13342589G>A	(Likely) pathogenic	1 lab	fb7859774c
X:70348505 MED12 C>T	X	70348505	70348505	C	T	MED12	c.3412C>T	NM_005120.2	NP_005111.2:p.(Arg1138Trp)	NC_000023.10:g.70348505C>T	(Likely) pathogenic	1 lab	fb7a38999b
8:61763105 CHD7 C>T	8	61763105	61763105	C	T	CHD7	c.5458C>T	NM_017780.3	NP_060250.2:p.(Arg1820Ter)	NC_000008.10:g.61763105C>T	(Likely) pathogenic	1 lab	fb7ad8d7cb
X:31227832 DMD A>T	X	31227832	31227832	A	T	DMD	c.8993-16T>A	NM_004010.3	NP_004001.1:p.?	NC_000023.10:g.31227832A>T	(Likely) benign	1 lab	19557d85f9
8:38282024 FGFR1 T>A	8	38282024	38282024	T	A	FGFR1	c.936+3A>T	NM_023110.2	NP_075598.2:p.?	NC_000008.10:g.38282024T>A	(Likely) pathogenic	1 lab	fb7dcd29ac
X:53285053 IQSEC2 C>A	X	53285053	53285053	C	A	IQSEC2	c.928G>T	NM_001111125.2	NP_001104595.1:p.(Glu310Ter)	NC_000023.10:g.53285053C>A	(Likely) pathogenic	1 lab	fb80ca1539
9:130428443 STXBP1 A>C	9	130428443	130428443	A	C	STXBP1	c.664-2A>C	NM_003165.3	NP_003156.1:p.?	NC_000009.11:g.130428443A>C	(Likely) pathogenic	1 lab	fb8589a3c6
2:60689252 BCL11A CAG>C	2	60689252	60689254	CAG	C	BCL11A	c.793_794del	NM_022893.4	NP_075044.2:p.(Leu265ValfsTer2)	NC_000002.11:g.60689253_60689254del	(Likely) pathogenic	1 lab	fb85ec5538
8:11565477 GATA4 G>A	8	11565477	11565477	G	A	GATA4	c.-345G>A	NM_002052.3	NP_002043.2:p.?	NC_000008.10:g.11565477G>A	(Likely) benign	1 lab	fb872b7ca7
15:58256188 ALDH1A2 G>A	15	58256188	58256188	G	A	ALDH1A2	c.981C>T	NM_003888.3	NP_003879.2:p.(Phe327=)	NC_000015.9:g.58256188G>A	(Likely) benign	1 lab	fb8885d701
5:178416365 GRM6 G>A	5	178416365	178416365	G	A	GRM6	c.1054C>T	NM_000843.4	NP_000834.2:p.(Arg352Cys)	NC_000005.9:g.178416365G>A	(Likely) pathogenic	1 lab	fb8ec71505
17:26084279 NOS2 G>A	17	26084279	26084279	G	A	NOS2	c.3455C>T	NM_000625.4	NP_000616.3:p.(Ala1152Val)	NC_000017.10:g.26084279G>A	(Likely) benign	1 lab	195707efe1
12:48380869 COL2A1 C>T	12	48380869	48380869	C	T	COL2A1	c.1357G>A	NM_001844.5	NP_001835.3:p.(Gly453Ser)	NC_000012.11:g.48380869C>T	(Likely) pathogenic	1 lab	fb90c103c1
X:22108563 PHEX T>G	X	22108563	22108563	T	G	PHEX	c.680T>G	NM_000444.6	NP_000435.3:p.(Leu227Arg)	NC_000023.10:g.22108563T>G	VUS	1 lab	fb913e46e8
7:151478453 PRKAG2 C>G	7	151478453	151478453	C	G	PRKAG2	c.251G>C	NM_016203.3	NP_057287.2:p.(Arg84Pro)	NC_000007.13:g.151478453C>G	VUS	1 lab	fb949275ed
X:595498 SHOX C>A	X	595498	595498	C	A	SHOX	c.423C>A	NM_000451.3	NP_000442.1:p.(Tyr141Ter)	NC_000023.10:g.595498C>A	(Likely) pathogenic	1 lab	18b78b55d3
2:32366978 SPAST T>G	2	32366978	32366978	T	G	SPAST	c.1499T>G	NM_014946.3	NP_055761.2:p.(Phe500Cys)	NC_000002.11:g.32366978T>G	(Likely) pathogenic	1 lab	fb9d8898f4
9:75387377 TMC1 C>T	9	75387377	75387377	C	T	TMC1	c.790C>T	NM_138691.2	NP_619636.2:p.(Arg264Ter)	NC_000009.11:g.75387377C>T	(Likely) pathogenic	1 lab	fb9e0c0a9e
10:89685319 PTEN G>A	10	89685319	89685319	G	A	PTEN	c.209+5G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89685319G>A	(Likely) pathogenic	1 lab	fb9edfd22e
4:79345650 FRAS1 A>G	4	79345650	79345650	A	G	FRAS1	c.4711+76A>G	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79345650A>G	(Likely) benign	1 lab	195afd8901
11:118656923 DDX6 C>G	11	118656923	118656923	C	G	DDX6	c.38G>C	NM_004397.4	NP_004388.2:p.(Gly13Ala)	NC_000011.9:g.118656923C>G	VUS	1 lab	fba1b81d01
2:211476845 CPS1 T>C	2	211476845	211476845	T	C	CPS1	c.2414T>C	NM_001122633.2	NP_001116105.1:p.(Met805Thr)	NC_000002.11:g.211476845T>C	(Likely) pathogenic	1 lab	fba2e14cd8
10:72358006 PRF1 C>T	10	72358006	72358006	C	T	PRF1	c.1471G>A	NM_001083116.1	NP_001076585.1:p.(Asp491Asn)	NC_000010.10:g.72358006C>T	VUS	1 lab	195b0dc8fb
5:13736033 DNAH5 G>A	5	13736033	13736033	G	A	DNAH5	c.11464C>T	NM_001369.3	NP_001360.1:p.(Arg3822Trp)	NC_000005.9:g.13736033G>A	VUS	1 lab	18b7bb2c11
2:167284356 SCN7A T>G	2	167284356	167284356	T	G	SCN7A	c.2795A>C	NM_002976.3	NP_002967.2:p.(Glu932Ala)	NC_000002.11:g.167284356T>G	VUS	1 lab	fbb0b0359f
7:47944926 PKD1L1 T>C	7	47944926	47944926	T	C	PKD1L1	c.1523-4A>G	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47944926T>C	(Likely) benign	1 lab	18b86f339c
16:4849741 ROGDI C>G	16	4849741	4849741	C	G	ROGDI	c.378G>C	NM_024589.2	NP_078865.1:p.(Leu126=)	NC_000016.9:g.4849741C>G	(Likely) benign	1 lab	195c427e4f
11:121058608 TECTA C>G	11	121058608	121058608	C	G	TECTA				NC_000011.9:g.121058608C>G	VUS	1 lab	fbb560f5f1
X:153296135 MECP2 GTGGCACGGGGGCCTT>G	X	153296135	153296153	GTGGCACGGGGGCCTT	G	MECP2				NC_000023.10:g.153296139_153296153del	VUS	1 lab	fbb61087ef
X:149765051 MTM1 A>G	X	149765051	149765051	A	G	MTM1	c.136+17A>G	NM_000252.2	NP_000243.1:p.?	NC_000023.10:g.149765051A>G	(Likely) benign	1 lab	195c48291c
X:7243422 STS G>A	X	7243422	7243422	G	A	STS	c.1124G>A	NM_001320752.2	NP_001307681.2:p.(Gly375Asp)	NC_000023.10:g.7243422G>A	VUS	1 lab	fbb9ee77e2
1:201328824 TNNT2 G>A	1	201328824	201328824	G	A	TNNT2	c.781-33C>T	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201328824G>A	(Likely) benign	1 lab	fbbb2cd02f
4:6303833 WFS1 G>T	4	6303833	6303833	G	T	WFS1	c.2311G>T	NM_006005.3	NP_005996.2:p.(Asp771Tyr)	NC_000004.11:g.6303833G>T	VUS	1 lab	fbc2704301
6:123673671 TRDN C>CT	6	123673671	123673672	C	CT	TRDN	c.1369+12_1369+13insA	NM_006073.4	NP_006064.2:p.?	NC_000006.11:g.123673671_123673672insT	(Likely) benign	1 lab	fbc2f91bd7
17:79479283 ACTG1 G>C	17	79479283	79479283	G	C	ACTG1	c.98C>G	NM_001614.3	NP_001605.1:p.(Ser33Cys)	NC_000017.10:g.79479283G>C	VUS	1 lab	fbc9de08fd
18:64211217 CDH19 G>T	18	64211217	64211217	G	T	CDH19	c.1205C>A	NM_021153.4	NP_066976.1:p.(Ser402Tyr)	NC_000018.9:g.64211217G>T	VUS	1 lab	18b9bf7b37
20:33589845 MYH7B CCAA>C	20	33589845	33589851	CCAA	C	MYH7B	c.5901_5903del	NM_020884.4	NP_065935.3:p.(Asn1967del)	NC_000020.10:g.33589849_33589851del	(Likely) benign	1 lab	fbce5f4bee
17:41245719 BRCA1 C>T	17	41245719	41245719	C	T	BRCA1	c.1829G>A	NM_007294.3	NP_009225.1:p.(Arg610Lys)	NC_000017.10:g.41245719C>T	(Likely) benign	1 lab	fbcf141ac5
X:153640233 TAFAZZIN C>G	X	153640233	153640233	C	G	TAFAZZIN	c.53C>G	NM_000116.4	NP_000107.1:p.(Thr18Ser)	NC_000023.10:g.153640233C>G	(Likely) benign	1 lab	fbd3c6cff6
8:118812091 EXT1 G>A	8	118812091	118812091	G	A	EXT1	c.2101C>T	NM_000127.3	NP_000118.2:p.(Arg701Ter)	NC_000008.10:g.118812091G>A	(Likely) pathogenic	1 lab	fbd50afec2
11:61719351 BEST1 C>T	11	61719351	61719351	C	T	BEST1	c.73C>T	NM_004183.3	NP_004174.1:p.(Arg25Trp)	NC_000011.9:g.61719351C>T	(Likely) pathogenic	1 lab	fbd570d9d7
17:17118626 FLCN AAACTCTGTAAC>A	17	17118626	17118640	AAACTCTGTAAC	A	FLCN	c.1301-7_1304del	NM_144997.7	NP_659434.2:p.?	NC_000017.10:g.17118630_17118640del	(Likely) pathogenic	1 lab	18c1654c2f
2:167322302 SCN7A T>C	2	167322302	167322302	T	C	SCN7A	c.860A>G	NM_002976.3	NP_002967.2:p.(Tyr287Cys)	NC_000002.11:g.167322302T>C	(Likely) benign	1 lab	fbdb74878d
X:24757534 POLA1 A>G	X	24757534	24757534	A	G	POLA1	c.2065A>G	NM_016937.4	NP_058633.2:p.(Met689Val)	NC_000023.10:g.24757534A>G	(Likely) benign	1 lab	18c5d232c9
4:3494847 DOK7 G>A	4	3494847	3494847	G	A	DOK7	c.1134G>A	NM_173660.4	NP_775931.3:p.(Ala378=)	NC_000004.11:g.3494847G>A	(Likely) benign	1 lab	fbdf4d0497
2:152463206 NEB T>G	2	152463206	152463206	T	G	NEB	c.12661A>C	NM_001271208.2	NP_001258137.2:p.(Asn4221His)	NC_000002.11:g.152463206T>G	VUS	1 lab	18c6926762
4:6304286 WFS1 C>T	4	6304286	6304286	C	T	WFS1	c.*91C>T	NM_006005.3	NP_005996.2:p.?	NC_000004.11:g.6304286C>T	(Likely) benign	1 lab	fbec5f9e72
3:48612541 COL7A1 C>T	3	48612541	48612541	C	T	COL7A1				NC_000003.11:g.48612541C>T	(Likely) pathogenic	1 lab	fbeeb18211
17:41246203 BRCA1 A>G	17	41246203	41246203	A	G	BRCA1	c.1345T>C	NM_007294.4	NP_009225.1:p.(Ser449Pro)	NC_000017.10:g.41246203A>G	(Likely) benign	1 lab	fbefc4f336
17:7574013 TP53 G>A	17	7574013	7574013	G	A	TP53	c.1014C>T	NM_000546.5	NP_000537.3:p.(Phe338=)	NC_000017.10:g.7574013G>A	(Likely) benign	1 lab	fbf200354a
19:48183520 BICRA C>T	19	48183520	48183520	C	T	BICRA	c.1093C>T	NM_015711.3	NP_056526.3:p.(Gln365Ter)	NC_000019.9:g.48183520C>T	(Likely) pathogenic	1 lab	fbf7472bb8
9:80409488 GNAQ T>C	9	80409488	80409488	T	C	GNAQ	c.626A>G	NM_002072.5	NP_002063.2:p.(Gln209Arg)	NC_000009.11:g.80409488T>C	(Likely) pathogenic	1 lab	fbf858113b
17:42085858 NAGS G>A	17	42085858	42085858	G	A	NAGS	c.1494G>A	NM_153006.2	NP_694551.1:p.(Trp498Ter)	NC_000017.10:g.42085858G>A	(Likely) pathogenic	1 lab	fbfa0412ee
3:46901033 MYL3 C>T	3	46901033	46901033	C	T	MYL3	c.413G>A	NM_000258.2	NP_000249.1:p.(Arg138Gln)	NC_000003.11:g.46901033C>T	(Likely) pathogenic	1 lab	fbfd3647e5
19:1222959 STK11 C>T	19	1222959	1222959	C	T	STK11	c.921-25C>T	NM_000455.5	NP_000446.1:p.?	NC_000019.9:g.1222959C>T	(Likely) benign	1 lab	fbff56e3e6
17:66339801 ARSG T>C	17	66339801	66339801	T	C	ARSG	c.275T>C	NM_014960.5	NP_055775.2:p.(Leu92Pro)	NC_000017.10:g.66339801T>C	(Likely) pathogenic	1 lab	fc07695788
6:26204993 H4C5 C>T	6	26204993	26204993	C	T	H4C5	c.121C>T	NM_003545.3	NP_003536.1:p.(Arg41Cys)	NC_000006.11:g.26204993C>T	VUS	1 lab	fc082ed8df
10:88476205 LDB3 C>G	10	88476205	88476205	C	G	LDB3	c.1353C>G	NM_007078.3	NP_009009.1:p.(Pro451=)	NC_000010.10:g.88476205C>G	(Likely) benign	1 lab	fc0a6c6a6c
9:3301545 RFX3 C>T	9	3301545	3301545	C	T	RFX3	c.549+1G>A	NM_001282116.2	NP_001269045.1:p.?	NC_000009.11:g.3301545C>T	(Likely) pathogenic	1 lab	fc0a9317d2
18:44139458 LOXHD1 G>A	18	44139458	44139458	G	A	LOXHD1	c.3169C>T	NM_144612.6	NP_653213.6:p.(Arg1057Ter)	NC_000018.9:g.44139458G>A	(Likely) pathogenic	1 lab	fc0b4b7332
17:7578190 TP53 T>C	17	7578190	7578190	T	C	TP53	c.659A>G	NM_000546.5	NP_000537.3:p.(Tyr220Cys)	NC_000017.10:g.7578190T>C	(Likely) pathogenic	1 lab	fc0c50b5cc
3:53844019 CACNA1D C>T	3	53844019	53844019	C	T	CACNA1D	c.5946C>T	NM_000720.3	NP_000711.1:p.(Ala1982=)	NC_000003.11:g.53844019C>T	(Likely) benign	1 lab	fc0ca65bf2
7:91682217 AKAP9 G>A	7	91682217	91682217	G	A	AKAP9	c.5546G>A	NM_005751.5	NP_005742.4:p.(Arg1849Gln)	NC_000007.13:g.91682217G>A	VUS	1 lab	fc0e9a418a
3:48508733 SHISA5 G>A	3	48508733	48508733	G	A	SHISA5				NC_000003.11:g.48508733G>A	(Likely) benign	1 lab	fc0f163d1b
5:140903792 DIAPH1 G>A	5	140903792	140903792	G	A	DIAPH1	c.3579C>T	NM_005219.4	NP_005210.3:p.(Gly1193=)	NC_000005.9:g.140903792G>A	(Likely) benign	1 lab	fc10b27eff
22:31837994 EIF4ENIF1 G>A	22	31837994	31837994	G	A	EIF4ENIF1	c.2317C>T	NM_001164501.1	NP_001157973.1:p.(Gln773Ter)	NC_000022.10:g.31837994G>A	VUS	1 lab	fc10fd5e94
17:7579363 TP53 A>ACCTTT	17	7579363	7579366	A	ACCTTT	TP53	c.323_324insAAAGG	NM_000546.5	NP_000537.3:p.(Phe109LysfsTer16)	NC_000017.10:g.7579365_7579366insTTTCC	(Likely) pathogenic	1 lab	fc12e97670
12:71533534 TSPAN8 C>G	12	71533534	71533534	C	G	TSPAN8	c.218G>C	NM_004616.2	NP_004607.1:p.(Gly73Ala)	NC_000012.11:g.71533534C>G	(Likely) benign	1 lab	fc17bed667
1:110709771 SLC6A17 A>G	1	110709771	110709771	A	G	SLC6A17	c.220A>G	NM_001010898.4	NP_001010898.1:p.(Ile74Val)	NC_000001.10:g.110709771A>G	VUS	1 lab	fc189fb208
19:36223959 KMT2B C>T	19	36223959	36223959	C	T	KMT2B	c.6509C>T	NM_014727.3	NP_055542.1:p.(Pro2170Leu)	NC_000019.9:g.36223959C>T	VUS	1 lab	18c80f11f2
13:32968979 BRCA2 C>G	13	32968979	32968979	C	G	BRCA2	c.9410C>G	NM_000059.3	NP_000050.2:p.(Thr3137Ser)	NC_000013.10:g.32968979C>G	VUS	1 lab	fc1c1a0ca3
3:54919338 CACNA2D3 C>T	3	54919338	54919338	C	T	CACNA2D3	c.1943C>T	NM_018398.3	NP_060868.2:p.(Ser648Phe)	NC_000003.11:g.54919338C>T	VUS	1 lab	18c89ac8fa
6:33136731 COL11A2 C>T	6	33136731	33136731	C	T	COL11A2	c.3852+1G>A	NM_080680.2	NP_542411.2:p.?	NC_000006.11:g.33136731C>T	(Likely) pathogenic	1 lab	fc20c8deef
22:50694084 MAPK12 G>A	22	50694084	50694084	G	A	MAPK12	c.731C>T	NM_002969.4	NP_002960.2:p.(Thr244Met)	NC_000022.10:g.50694084G>A	VUS	1 lab	fc2390cdc0
12:103271350 PAH G>A	12	103271350	103271350	G	A	PAH	c.353-22C>T	NM_000277.1	NP_000268.1:p.?	NC_000012.11:g.103271350G>A	(Likely) benign	1 lab	fc263bfb6d
16:16313412 ABCC6 G>A	16	16313412	16313412	G	A	ABCC6	c.473C>T	NM_001171.6	NP_001162.5:p.(Ala158Val)	NC_000016.9:g.16313412G>A	(Likely) benign	1 lab	fc296cb5c7
17:79478084 ACTG1 A>G	17	79478084	79478084	A	G	ACTG1	c.853T>C	NM_001614.3	NP_001605.1:p.(Cys285Arg)	NC_000017.10:g.79478084A>G	(Likely) pathogenic	1 lab	fc2afbd108
X:41203521 DDX3X C>A	X	41203521	41203521	C	A	DDX3X	c.894C>A	NM_001356.5	NP_001347.3:p.(Cys298Ter)	NC_000023.10:g.41203521C>A	(Likely) pathogenic	1 lab	fc2b53440a
X:107861979 COL4A5 A>G	X	107861979	107861979	A	G	COL4A5	c.2510-1510A>G	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107861979A>G	(Likely) pathogenic	1 lab	fc2c71529d
14:23852542 MYH6 G>A	14	23852542	23852542	G	A	MYH6	c.5566-13C>T	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23852542G>A	(Likely) benign	1 lab	fc2df4e19e
14:23896480 MYH7 G>A	14	23896480	23896480	G	A	MYH7	c.1925C>T	NM_000257.4	NP_000248.2:p.(Ser642Leu)	NC_000014.8:g.23896480G>A	(Likely) pathogenic	1 lab	fc364ffdd5
12:106826162 POLR3B A>C	12	106826162	106826162	A	C	POLR3B	c.1531A>C	NM_018082.6	NP_060552.4:p.(Ile511Leu)	NC_000012.11:g.106826162A>C	VUS	1 lab	18cf8594d7
2:167060673 SCN9A C>T	2	167060673	167060673	C	T	SCN9A	c.4566G>A	NM_001365536.1	NP_001352465.1:p.(Met1522Ile)	NC_000002.11:g.167060673C>T	VUS	1 lab	fc3b087182
12:57569478 LRP1 C>T	12	57569478	57569478	C	T	LRP1	c.3783C>T	NM_002332.2	NP_002323.2:p.(Cys1261=)	NC_000012.11:g.57569478C>T	(Likely) benign	1 lab	fc3ca8f8a4
3:37043614 MLH1 C>G	3	37043614	37043614	C	G	MLH1	c.306+1070C>G	NM_000249.4	NP_000240.1:p.?	NC_000003.11:g.37043614C>G	(Likely) pathogenic	1 lab	fc3dca8ab5
4:16037357 PROM1 C>T	4	16037357	16037357	C	T	PROM1	c.303+1G>A	NM_006017.3	NP_006008.1:p.?	NC_000004.11:g.16037357C>T	(Likely) pathogenic	1 lab	fc3e4fdf05
2:179418467 TTN C>T	2	179418467	179418467	C	T	TTN	c.89265G>A	NM_001267550.2	NP_001254479.2:p.(Trp29755Ter)	NC_000002.11:g.179418467C>T	(Likely) pathogenic	1 lab	fc3ee2f015
2:47693852 MSH2 C>A	2	47693852	47693852	C	A	MSH2	c.1566C>A	NM_000251.3	NP_000242.1:p.(Tyr522Ter)	NC_000002.11:g.47693852C>A	(Likely) pathogenic	1 lab	fc3f5e4e0c
6:7574491 DSP CT>C	6	7574491	7574492	CT	C	DSP	c.2297+7del	NM_004415.4	NP_004406.2:p.?	NC_000006.11:g.7574492del	(Likely) benign	1 lab	d91aa30687
X:20194581 RPS6KA3 GT>G	X	20194581	20194582	GT	G	RPS6KA3	c.969del	NM_004586.2	NP_004577.1:p.(Arg323SerfsTer8)	NC_000023.10:g.20194582del	(Likely) pathogenic	1 lab	fc45f0b5f8
19:18958580 UPF1 C>T	19	18958580	18958580	C	T	UPF1	c.399C>T	NM_002911.4	NP_002902.2:p.(Cys133=)	NC_000019.9:g.18958580C>T	(Likely) benign	1 lab	18d0ff4db0
12:111356968 MYL2 C>T	12	111356968	111356968	C	T	MYL2	c.33G>A	NM_000432.3	NP_000423.2:p.(Gly11=)	NC_000012.11:g.111356968C>T	(Likely) benign	1 lab	fc464ebf90
9:97321221 FBP2 T>C	9	97321221	97321221	T	C	FBP2	c.1019A>G	NM_003837.4	NP_003828.2:p.(Ter340TrpextTer3)	NC_000009.11:g.97321221T>C	VUS	1 lab	fc48fd0b1f
9:139399147 NOTCH1 G>C	9	139399147	139399147	G	C	NOTCH1	c.4996C>G	NM_017617.5	NP_060087.3:p.(Leu1666Val)	NC_000009.11:g.139399147G>C	VUS	1 lab	1964379f5c
17:42636362 FZD2 G>A	17	42636362	42636362	G	A	FZD2	c.1306G>A	NM_001466.4	NP_001457.1:p.(Val436Met)	NC_000017.10:g.42636362G>A	VUS	1 lab	fc4ec39d61
19:39076781 RYR1 G>A	19	39076781	39076781	G	A	RYR1	c.14919G>A	NM_000540.3	NP_000531.2:p.(Pro4973=)	NC_000019.9:g.39076781G>A	(Likely) benign	1 lab	fc4ff85e85
12:48370938 COL2A1 C>G	12	48370938	48370938	C	G	COL2A1	c.3274G>C	NM_001844.4	NP_001835.3:p.(Gly1092Arg)	NC_000012.11:g.48370938C>G	VUS	1 lab	fc50c386fb
10:43612138 RET G>A	10	43612138	43612138	G	A	RET	c.2243G>A	NM_020975.4	NP_066124.1:p.(Gly748Asp)	NC_000010.10:g.43612138G>A	VUS	1 lab	fc5a45b645
12:116445428 MED13L G>A	12	116445428	116445428	G	A	MED13L	c.2026C>T	NM_015335.4	NP_056150.1:p.(Pro676Ser)	NC_000012.11:g.116445428G>A	(Likely) benign	1 lab	fc5d5b57da
21:45539406 PWP2 T>C	21	45539406	45539406	T	C	PWP2	c.1188+2T>C	NM_005049.3	NP_005040.2:p.?	NC_000021.8:g.45539406T>C	VUS	1 lab	fc5dcf077c
19:3651960 PIP5K1C G>A	19	3651960	3651960	G	A	PIP5K1C	c.991C>T	NM_012398.3	NP_036530.1:p.(Arg331Cys)	NC_000019.9:g.3651960G>A	VUS	1 lab	04b62ef59c
19:38990637 RYR1 G>A	19	38990637	38990637	G	A	RYR1	c.7304G>A	NM_000540.2	NP_000531.2:p.(Arg2435His)	NC_000019.9:g.38990637G>A	(Likely) pathogenic	1 lab	fc5ef0b0a8
1:41285121 KCNQ4 G>A	1	41285121	41285121	G	A	KCNQ4				NC_000001.10:g.41285121G>A	(Likely) pathogenic	1 lab	fc5fb2681f
4:10079084 WDR1 T>A	4	10079084	10079084	T	A	WDR1	c.1570-12A>T	NM_017491.5	NP_059830.1:p.?	NC_000004.11:g.10079084T>A	(Likely) benign	1 lab	196710bcb5
9:136319589 ADAMTS13 G>A	9	136319589	136319589	G	A	ADAMTS13	c.3097G>A	NM_139025.4	NP_620594.1:p.(Ala1033Thr)	NC_000009.11:g.136319589G>A	(Likely) benign	1 lab	fc61ff92bf
15:42676686 CAPN3 T>G	15	42676686	42676686	T	G	CAPN3	c.315T>G	NM_000070.3	NP_000061.1:p.(Ile105Met)	NC_000015.9:g.42676686T>G	VUS	1 lab	fc6251a9cf
8:61714114 CHD7 G>A	8	61714114	61714114	G	A	CHD7	c.2404G>A	NM_017780.3	NP_060250.2:p.(Val802Ile)	NC_000008.10:g.61714114G>A	VUS	1 lab	fc63939c8e
18:28648312 DSC2 T>A	18	28648312	28648312	T	A	DSC2	c.2509-134A>T	NM_024422.4	NP_077740.1:p.?	NC_000018.9:g.28648312T>A	VUS	1 lab	fc63996ae2
X:129206289 ELF4 AC>A	X	129206289	129206292	AC	A	ELF4	c.443del	NM_001421.4	NP_001412.1:p.(Gly148ValfsTer113)	NC_000023.10:g.129206292del	VUS	1 lab	fc651a34d6
16:28895959 ATP2A1 A>G	16	28895959	28895959	A	G	ATP2A1	c.527A>G	NM_004320.6	NP_004311.1:p.(Asp176Gly)	NC_000016.9:g.28895959A>G	VUS	1 lab	fc69235e51
15:42116076 MAPKBP1 G>T	15	42116076	42116076	G	T	MAPKBP1	c.4048G>T	NM_001128608.2	NP_001122080.1:p.(Gly1350Cys)	NC_000015.9:g.42116076G>T	(Likely) benign	1 lab	19673263c2
1:196973789 CFHR5 A>G	1	196973789	196973789	A	G	CFHR5	c.1331-2A>G	NM_030787.4	NP_110414.1:p.?	NC_000001.10:g.196973789A>G	(Likely) pathogenic	1 lab	fc6cd28dfb
1:15772101 CTRC G>A	1	15772101	15772101	G	A	CTRC				NC_000001.10:g.15772101G>A	(Likely) pathogenic	1 lab	fc6d070716
18:52921880 TCF4 G>T	18	52921880	52921880	G	T	TCF4	c.1504C>A	NM_001243226.2	NP_001230155.2:p.(Leu502Ile)	NC_000018.9:g.52921880G>T	VUS	1 lab	fc6e487c54
15:91549589 VPS33B C>T	15	91549589	91549589	C	T	VPS33B	c.852+13G>A	NM_018668.4	NP_061138.3:p.?	NC_000015.9:g.91549589C>T	(Likely) benign	1 lab	1967a5919b
11:68700859 IGHMBP2 G>A	11	68700859	68700859	G	A	IGHMBP2	c.1328G>A	NM_002180.2	NP_002171.2:p.(Arg443His)	NC_000011.9:g.68700859G>A	(Likely) pathogenic	1 lab	fc74f66749
2:167298133 SCN7A A>T	2	167298133	167298133	A	T	SCN7A	c.1930T>A	NM_002976.4	NP_002967.2:p.(Phe644Ile)	NC_000002.11:g.167298133A>T	(Likely) benign	1 lab	fc76f40a64
10:102509529 PAX2 G>C	10	102509529	102509529	G	C	PAX2	c.70G>C	NM_003988.4	NP_003979.2:p.(Gly24Arg)	NC_000010.10:g.102509529G>C	VUS	1 lab	fc78f7d4d0
15:31355292 TRPM1 C>T	15	31355292	31355292	C	T	TRPM1	c.965+29G>A	NM_001252024.2	NP_001238953.1:p.?	NC_000015.9:g.31355292C>T	(Likely) pathogenic	1 lab	fc79922cbb
10:131665509 EBF3 C>T	10	131665509	131665509	C	T	EBF3	c.908G>A	NM_001005463.2	NP_001005463.1:p.(Arg303Gln)	NC_000010.10:g.131665509C>T	(Likely) benign	1 lab	fc8001f03d
22:51142650 SHANK3 T>C	22	51142650	51142650	T	C	SHANK3	c.1970T>C	NM_001372044.2	NP_001358973.1:p.(Phe657Ser)	NC_000022.10:g.51142650T>C	VUS	1 lab	fc83cad97f
16:1256099 CACNA1H C>T	16	1256099	1256099	C	T	CACNA1H	c.2604-5C>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1256099C>T	(Likely) benign	1 lab	1967b1a75c
6:7585977 DSP G>A	6	7585977	7585977	G	A	DSP	c.8482G>A	NM_004415.3	NP_004406.2:p.(Gly2828Ser)	NC_000006.11:g.7585977G>A	(Likely) benign	1 lab	fc88ea89af
19:39068595 RYR1 G>A	19	39068595	39068595	G	A	RYR1	c.14210G>A	NM_000540.2	NP_000531.2:p.(Arg4737Gln)	NC_000019.9:g.39068595G>A	(Likely) pathogenic	1 lab	fc907d7718
1:209811886 LAMB3 T>G	1	209811886	209811886	T	G	LAMB3	c.291A>C	NM_001017402.2	NP_001017402.1:p.(Ser97=)	NC_000001.10:g.209811886T>G	(Likely) benign	1 lab	18d7dc5305
5:169445990 DOCK2 G>A	5	169445990	169445990	G	A	DOCK2	c.3259G>A	NM_004946.2	NP_004937.1:p.(Gly1087Ser)	NC_000005.9:g.169445990G>A	VUS	1 lab	fc941885ad
10:26432480 MYO3A T>A	10	26432480	26432480	T	A	MYO3A				NC_000010.10:g.26432480T>A	VUS	1 lab	fc9c318ec6
1:3328801 PRDM16 G>A	1	3328801	3328801	G	A	PRDM16	c.2040G>A	NM_022114.3	NP_071397.3:p.(Glu680=)	NC_000001.10:g.3328801G>A	VUS	1 lab	fc9c86cb26
20:8352255 PLCB1 C>T	20	8352255	8352255	C	T	PLCB1	c.246+158C>T	NM_015192.4	NP_056007.1:p.?	NC_000020.10:g.8352255C>T	(Likely) benign	1 lab	196e483bf6
X:70465837 ZMYM3 G>A	X	70465837	70465837	G	A	ZMYM3	c.2684C>T	NM_005096.3	NP_005087.1:p.(Pro895Leu)	NC_000023.10:g.70465837G>A	VUS	1 lab	fc9e6fd05d
3:38770242 SCN10A C>G	3	38770242	38770242	C	G	SCN10A	c.2431G>C	NM_006514.3	NP_006505.3:p.(Glu811Gln)	NC_000003.11:g.38770242C>G	(Likely) benign	1 lab	fc9eaf3877
3:189608664 TP63 C>A	3	189608664	189608664	C	A	TP63	c.1739C>A	NM_003722.4	NP_003713.3:p.(Ser580Tyr)	NC_000003.11:g.189608664C>A	(Likely) pathogenic	1 lab	fc9fa53afc
19:41224204 ITPKC G>C	19	41224204	41224204	G	C	ITPKC	c.1155+9G>C	NM_025194.2	NP_079470.1:p.?	NC_000019.9:g.41224204G>C	(Likely) benign	1 lab	fca00b84c5
12:133219989 POLE A>T	12	133219989	133219989	A	T	POLE	c.4444+4T>A	NM_006231.2	NP_006222.2:p.?	NC_000012.11:g.133219989A>T	(Likely) benign	1 lab	fca24f06d4
X:99662889 PCDH19 G>A	X	99662889	99662889	G	A	PCDH19				NC_000023.10:g.99662889G>A	(Likely) pathogenic	1 lab	fca256a4eb
1:103428291 COL11A1 A>G	1	103428291	103428291	A	G	COL11A1	c.2942T>C	NM_001854.3	NP_001845.3:p.(Ile981Thr)	NC_000001.10:g.103428291A>G	VUS	1 lab	fca29c838c
20:49508203 ADNP C>CA	20	49508203	49508204	C	CA	ADNP				NC_000020.10:g.49508203_49508204insA	VUS	1 lab	fca4064ead
16:4292002 MISSING C>A	16	4292002	4292002	C	A	MISSING				NC_000016.9:g.4292002C>A	(Likely) benign	1 lab	fca590f69e
15:52689526 MYO5A T>C	15	52689526	52689526	T	C	MYO5A	c.1191=	NM_000259.3	NP_000250.3:p.(Thr397=)	NC_000015.9:g.52689526T>C	(Likely) benign	1 lab	18da17a22a
7:120478941 TSPAN12 A>C	7	120478941	120478941	A	C	TSPAN12	c.175T>G	NM_012338.3	NP_036470.1:p.(Tyr59Asp)	NC_000007.13:g.120478941A>C	VUS	1 lab	fcaf101ea7
11:47357524 MYBPC3 C>T	11	47357524	47357524	C	T	MYBPC3	c.2641G>A	NM_000256.3	NP_000247.2:p.(Val881Ile)	NC_000011.9:g.47357524C>T	(Likely) benign	1 lab	fcb4cf2338
10:226059 ZMYND11 G>T	10	226059	226059	G	T	ZMYND11	c.107G>T	NM_006624.5	NP_006615.2:p.(Arg36Leu)	NC_000010.10:g.226059G>T	VUS	1 lab	fcb4ddbdbc
2:48026936 MSH6 CTA>C	2	48026936	48026938	CTA	C	MSH6	c.1815_1816del	NM_000179.3	NP_000170.1:p.(Lys606AsnfsTer33)	NC_000002.11:g.48026937_48026938del	(Likely) pathogenic	1 lab	fcb4ef3a5b
9:139839904 C8G T>G	9	139839904	139839904	T	G	C8G	c.132T>G	NM_000606.2	NP_000597.2:p.(Ala44=)	NC_000009.11:g.139839904T>G	(Likely) benign	1 lab	fcb6b0126d
2:179534984 TTN C>G	2	179534984	179534984	C	G	TTN	c.35347G>C	NM_001267550.2	NP_001254479.2:p.(Val11783Leu)	NC_000002.11:g.179534984C>G	(Likely) benign	1 lab	fcb749013b
17:41245991 BRCA1 CT>C	17	41245991	41245993	CT	C	BRCA1	c.1556del	NM_007294.4	NP_009225.1:p.(Lys519ArgfsTer13)	NC_000017.10:g.41245993del	(Likely) pathogenic	1 lab	18da8e46a6
2:73680178 MISSING C>T	2	73680178	73680178	C	T	MISSING				NC_000002.11:g.73680178C>T	(Likely) benign	1 lab	fcbc8f0123
1:55464860 BSND A>T	1	55464860	55464860	A	T	BSND	c.1A>T	NM_057176.2	NP_476517.1:p.(Met1?)	NC_000001.10:g.55464860A>T	(Likely) pathogenic	1 lab	fcc16e50fd
14:61115555 SIX1 G>A	14	61115555	61115555	G	A	SIX1	c.353C>T	NM_005982.4	NP_005973.1:p.(Pro118Leu)	NC_000014.8:g.61115555G>A	(Likely) pathogenic	1 lab	fcc2e7578d
7:143018504 CLCN1 G>C	7	143018504	143018504	G	C	CLCN1	c.480G>C	NM_000083.2	NP_000074.2:p.(Gln160His)	NC_000007.13:g.143018504G>C	(Likely) pathogenic	1 lab	fcc5111645
1:196642982 CFH T>C	1	196642982	196642982	T	C	CFH	c.245-5T>C	NM_000186.3	NP_000177.2:p.?	NC_000001.10:g.196642982T>C	(Likely) benign	1 lab	fcc5d4d6f6
12:6442615 TNFRSF1A G>C	12	6442615	6442615	G	C	TNFRSF1A	c.390C>G	NM_001065.3	NP_001056.1:p.(Asn130Lys)	NC_000012.11:g.6442615G>C	VUS	1 lab	19707b3d02
11:128782012 KCNJ5 C>A	11	128782012	128782012	C	A	KCNJ5	c.844C>A	NM_000890.4	NP_000881.3:p.(Gln282Lys)	NC_000011.9:g.128782012C>A	(Likely) benign	1 lab	fcc76c32e3
1:201016296 CACNA1S G>A	1	201016296	201016296	G	A	CACNA1S	c.4615C>T	NM_000069.2	NP_000060.2:p.(Arg1539Cys)	NC_000001.10:g.201016296G>A	(Likely) benign	1 lab	fcc96b789a
5:1268743 TERT T>C	5	1268743	1268743	T	C	TERT	c.2474A>G	NM_198253.3	NP_937983.2:p.(Tyr825Cys)	NC_000005.9:g.1268743T>C	VUS	1 lab	fcca2d2895
6:1611236 FOXC1 A>G	6	1611236	1611236	A	G	FOXC1				NC_000006.11:g.1611236A>G	VUS	1 lab	fcd1ce57c6
10:72631591 SGPL1 A>G	10	72631591	72631591	A	G	SGPL1	c.910-3A>G	NM_003901.4	NP_003892.2:p.?	NC_000010.10:g.72631591A>G	(Likely) benign	1 lab	18dabf287b
8:10467160 RP1L1 G>A	8	10467160	10467160	G	A	RP1L1	c.4448C>T	NM_178857.5	NP_849188.4:p.(Ala1483Val)	NC_000008.10:g.10467160G>A	(Likely) benign	1 lab	fcd4c2c8bd
22:29121034 CHEK2 C>T	22	29121034	29121034	C	T	CHEK2	c.523G>A	NM_007194.3	NP_009125.1:p.(Val175Ile)	NC_000022.10:g.29121034C>T	(Likely) benign	1 lab	fcd648c4e0
1:94473274 ABCA4 T>C	1	94473274	94473274	T	C	ABCA4	c.5921A>G	NM_000350.2	NP_000341.2:p.(Asn1974Ser)	NC_000001.10:g.94473274T>C	VUS	1 lab	fcd8d43dd3
11:68154089 LRP5 G>A	11	68154089	68154089	G	A	LRP5	c.1321G>A	NM_002335.2	NP_002326.2:p.(Glu441Lys)	NC_000011.9:g.68154089G>A	(Likely) pathogenic	1 lab	fce00da22f
2:202569184 ALS2 G>A	2	202569184	202569184	G	A	ALS2	c.4831C>T	NM_020919.3	NP_065970.2:p.(Arg1611Trp)	NC_000002.11:g.202569184G>A	VUS	1 lab	fcee252bca
X:49084570 CACNA1F C>T	X	49084570	49084570	C	T	CACNA1F	c.1046G>A	NM_005183.3	NP_005174.2:p.(Trp349Ter)	NC_000023.10:g.49084570C>T	(Likely) pathogenic	1 lab	fcf259f316
7:6037059 PMS2 A>G	7	6037059	6037059	A	G	PMS2	c.706-5T>C	NM_000535.5	NP_000526.1:p.?	NC_000007.13:g.6037059A>G	(Likely) benign	1 lab	db5ccc7897
2:228102779 COL4A3 A>T	2	228102779	228102779	A	T	COL4A3	c.144+39A>T	NM_000091.4	NP_000082.2:p.?	NC_000002.11:g.228102779A>T	(Likely) benign	1 lab	fcf3fb05d9
10:89624116 PTEN G>T	10	89624116	89624116	G	T	PTEN	c.-111G>T	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89624116G>T	(Likely) benign	1 lab	fcf522fe76
4:187130031 CYP4V2 G>A	4	187130031	187130031	G	A	CYP4V2	c.1103G>A	NM_207352.3	NP_997235.3:p.(Arg368His)	NC_000004.11:g.187130031G>A	VUS	1 lab	fcfc27ebfa
16:89334934 ANKRD11 G>C	16	89334934	89334934	G	C	ANKRD11	c.7944C>G	NM_013275.5	NP_037407.4:p.(Tyr2648Ter)	NC_000016.9:g.89334934G>C	VUS	1 lab	fcfe5ab635
10:95372764 PDE6C C>T	10	95372764	95372764	C	T	PDE6C	c.282C>T	NM_006204.3	NP_006195.3:p.(Asp94=)	NC_000010.10:g.95372764C>T	(Likely) benign	1 lab	fcffe4673e
16:67655473 CTCF A>G	16	67655473	67655473	A	G	CTCF	c.1336A>G	NM_006565.4	NP_006556.1:p.(Ile446Val)	NC_000016.9:g.67655473A>G	VUS	1 lab	fd00b6241b
10:95156001 MYOF A>G	10	95156001	95156001	A	G	MYOF	c.1335-20T>C	NM_013451.4	NP_038479.1:p.?	NC_000010.10:g.95156001A>G	(Likely) benign	1 lab	1971132747
3:38760150 SCN10A A>C	3	38760150	38760150	A	C	SCN10A	c.3675T>G	NM_006514.3	NP_006505.3:p.(Ile1225Met)	NC_000003.11:g.38760150A>C	VUS	1 lab	fd085f9cd8
X:20206636 RPS6KA3 CT>C	X	20206636	20206638	CT	C	RPS6KA3	c.609del	NM_004586.2	NP_004577.1:p.(Glu204LysfsTer6)	NC_000023.10:g.20206638del	(Likely) pathogenic	1 lab	fd109bdb6e
20:32031233 SNTA1 T>C	20	32031233	32031233	T	C	SNTA1	c.194A>G	NM_003098.2	NP_003089.1:p.(Asn65Ser)	NC_000020.10:g.32031233T>C	VUS	1 lab	fd10ec01c8
22:41911525 ACO2 C>T	22	41911525	41911525	C	T	ACO2	c.670C>T	NM_001098.2	NP_001089.1:p.(Leu224=)	NC_000022.10:g.41911525C>T	(Likely) benign	1 lab	fd1558a53c
14:65271633 SPTB C>T	14	65271633	65271633	C	T	SPTB	c.300+24G>A	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65271633C>T	(Likely) benign	1 lab	1974db836e
4:47939111 CNGA1 AT>A	4	47939111	47939112	AT	A	CNGA1				NC_000004.11:g.47939112del	(Likely) pathogenic	1 lab	fd179475ea
X:64743447 LAS1L G>A	X	64743447	64743447	G	A	LAS1L	c.1441C>T	NM_031206.7	NP_112483.1:p.(Leu481Phe)	NC_000023.10:g.64743447G>A	VUS	1 lab	fd197fc7eb
15:48719775 FBN1 G>A	15	48719775	48719775	G	A	FBN1	c.7193C>T	NM_000138.5	NP_000129.3:p.(Thr2398Ile)	NC_000015.9:g.48719775G>A	VUS	1 lab	18df18f187
13:32900776 BRCA2 A>T	13	32900776	32900776	A	T	BRCA2	c.631+26A>T	NM_000059.3	NP_000050.2:p.?	NC_000013.10:g.32900776A>T	(Likely) benign	1 lab	fd1b6ab46f
1:43804957 MPL C>A	1	43804957	43804957	C	A	MPL	c.407C>A	NM_005373.2	NP_005364.1:p.(Pro136His)	NC_000001.10:g.43804957C>A	(Likely) pathogenic	1 lab	fd1ed27281
15:93485927 CHD2 G>C	15	93485927	93485927	G	C	CHD2	c.827-146G>C	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93485927G>C	(Likely) benign	1 lab	1975623759
10:21134257 NEBL C>T	10	21134257	21134257	C	T	NEBL	c.1157G>A	NM_006393.2	NP_006384.1:p.(Arg386Lys)	NC_000010.10:g.21134257C>T	(Likely) benign	1 lab	fd2026ebee
12:6138595 VWF C>T	12	6138595	6138595	C	T	VWF	c.2880G>A	NM_000552.3	NP_000543.2:p.(Arg960=)	NC_000012.11:g.6138595C>T	(Likely) benign	1 lab	fd2058fbf0
13:103343256 METTL21C G>C	13	103343256	103343256	G	C	METTL21C	c.189C>G	NM_001010977.1	NP_001010977.1:p.(Tyr63Ter)	NC_000013.10:g.103343256G>C	VUS	1 lab	fd218da151
5:112043375 APC G>A	5	112043375	112043375	G	A	APC	c.-40G>A	NM_001127511.3	NP_001120983.2:p.?	NC_000005.9:g.112043375G>A	VUS	1 lab	fd22f2380d
10:78868314 KCNMA1 T>G	10	78868314	78868314	T	G	KCNMA1	c.1148A>C	NM_001161352.2	NP_001154824.1:p.(Tyr383Ser)	NC_000010.10:g.78868314T>G	(Likely) pathogenic	1 lab	fd246ce7aa
19:7711231 STXBP2 G>A	19	7711231	7711231	G	A	STXBP2	c.1485+1G>A	NM_001272034.1	NP_001258963.1:p.?	NC_000019.9:g.7711231G>A	(Likely) pathogenic	1 lab	fd25201a33
17:66533655 FAM20A A>G	17	66533655	66533655	A	G	FAM20A	c.1589T>C	NM_017565.3	NP_060035.2:p.(Leu530Ser)	NC_000017.10:g.66533655A>G	(Likely) benign	1 lab	fd27544565
7:154681160 MISSING TG>T	7	154681160	154681161	TG	T	MISSING				NC_000007.13:g.154681161del	(Likely) benign	1 lab	fd2766db1d
8:126095998 WASHC5 T>C	8	126095998	126095998	T	C	WASHC5	c.143A>G	NM_014846.3	NP_055661.3:p.(Gln48Arg)	NC_000008.10:g.126095998T>C	VUS	1 lab	fd29b9f9fa
3:121251925 POLQ G>A	3	121251925	121251925	G	A	POLQ	c.872C>T	NM_199420.3	NP_955452.3:p.(Pro291Leu)	NC_000003.11:g.121251925G>A	VUS	1 lab	fd2cb6d7e6
3:37050348 MLH1 TA>T	3	37050348	37050354	TA	T	MLH1	c.503del	NM_000249.4	NP_000240.1:p.(Asn168IlefsTer34)	NC_000003.11:g.37050354del	(Likely) pathogenic	1 lab	fd2f860e92
2:179422534 TTN C>G	2	179422534	179422534	C	G	TTN	c.87547G>C	NM_001267550.2	NP_001254479.2:p.(Ala29183Pro)	NC_000002.11:g.179422534C>G	(Likely) benign	1 lab	fd2f9ae043
17:56787223 RAD51C C>T	17	56787223	56787223	C	T	RAD51C	c.709C>T	NM_058216.2	NP_478123.1:p.(Arg237Ter)	NC_000017.10:g.56787223C>T	(Likely) pathogenic	1 lab	fd31de38c8
11:69462910 CCND1 G>A	11	69462910	69462910	G	A	CCND1	c.723G>A	NM_053056.3	NP_444284.1:p.(Pro241=)	NC_000011.9:g.69462910G>A	(Likely) benign	1 lab	18e87ed7ed
16:2106243 TSC2 GAGGTC>G	16	2106243	2106250	GAGGTC	G	TSC2	c.648+1_648+5del	NM_000548.5	NP_000539.2:p.?	NC_000016.9:g.2106246_2106250del	(Likely) pathogenic	1 lab	18e957eb71
1:156106932 LMNA A>AC	1	156106932	156106933	A	AC	LMNA				NC_000001.10:g.156106933dup	VUS	1 lab	fd3816d6d1
9:463510 DOCK8 A>G	9	463510	463510	A	G	DOCK8	c.6069-7A>G	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.463510A>G	(Likely) benign	1 lab	da7be0e825
19:38956784 RYR1 G>A	19	38956784	38956784	G	A	RYR1	c.2924G>A	NM_000540.2	NP_000531.2:p.(Arg975Gln)	NC_000019.9:g.38956784G>A	(Likely) benign	1 lab	fd3cc570d4
7:44282890 CAMK2B C>T	7	44282890	44282890	C	T	CAMK2B	c.560G>A	NM_001220.4	NP_001211.3:p.(Arg187His)	NC_000007.13:g.44282890C>T	VUS	1 lab	fd3ea7e7a2
6:108197814 SEC63 A>C	6	108197814	108197814	A	C	SEC63	c.1988T>G	NM_007214.4	NP_009145.1:p.(Leu663Ter)	NC_000006.11:g.108197814A>C	(Likely) pathogenic	1 lab	fd3f15ea0b
2:228177751 COL4A3 G>A	2	228177751	228177751	G	A	COL4A3	c.*1165G>A	NM_000091.5	NP_000082.2:p.?	NC_000002.11:g.228177751G>A	(Likely) benign	1 lab	fd41a266d3
12:80747209 OTOGL C>G	12	80747209	80747209	C	G	OTOGL	c.5485C>G	NM_173591.3	NP_775862.3:p.(Leu1829Val)	NC_000012.11:g.80747209C>G	(Likely) benign	1 lab	fd43c70bf4
9:135205288 SETX A>G	9	135205288	135205288	A	G	SETX	c.1697T>C	NM_015046.5	NP_055861.3:p.(Leu566Pro)	NC_000009.11:g.135205288A>G	VUS	1 lab	fd478c3db4
9:123783934 C5 T>C	9	123783934	123783934	T	C	C5	c.1155A>G	NM_001735.2	NP_001726.2:p.(Gly385=)	NC_000009.11:g.123783934T>C	(Likely) benign	1 lab	fd4b212a52
3:38768363 SCN10A G>A	3	38768363	38768363	G	A	SCN10A	c.2821C>T	NM_006514.4	NP_006505.4:p.(Pro941Ser)	NC_000003.11:g.38768363G>A	(Likely) benign	1 lab	fd55183463
X:99917214 SRPX2 G>A	X	99917214	99917214	G	A	SRPX2				NC_000023.10:g.99917214G>A	VUS	1 lab	fe7f99b47b
2:47693907 MSH2 ACTGTAGATATCCAGAAGAATGGTGTTAAATTTACCAACAGGTTTGCAAGT>A	2	47693907	47693958	ACTGTAGATATCCAGAAGAATGGTGTTAAATTTACCAACAGGTTTGCAAGT	A	MSH2	c.1623_1661+11del	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47693909_47693958del	(Likely) pathogenic	1 lab	18e9683be8
2:179435848 TTN C>T	2	179435848	179435848	C	T	TTN	c.75011G>A	NM_001267550.2	NP_001254479.2:p.(Arg25004His)	NC_000002.11:g.179435848C>T	(Likely) benign	1 lab	fd55e4b8a3
2:179647158 TTN G>A	2	179647158	179647158	G	A	TTN	c.3165-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179647158G>A	(Likely) benign	1 lab	18e99fc89d
11:47238522 DDB2 T>C	11	47238522	47238522	T	C	DDB2	c.378=	NM_000107.3	NP_000098.1:p.(Thr126=)	NC_000011.9:g.47238522T>C	(Likely) benign	1 lab	18e9accaa0
7:6094343 EIF2AK1 T>C	7	6094343	6094343	T	C	EIF2AK1	c.119-8A>G	NM_014413.4	NP_055228.2:p.?	NC_000007.13:g.6094343T>C	VUS	1 lab	26ea5eb133
2:179527381 TTN T>C	2	179527381	179527381	T	C	TTN	c.36875-38A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179527381T>C	(Likely) benign	1 lab	fd5b26b567
8:61765232 CHD7 C>T	8	61765232	61765232	C	T	CHD7	c.6070C>T	NM_017780.3	NP_060250.2:p.(Arg2024Ter)	NC_000008.10:g.61765232C>T	(Likely) pathogenic	1 lab	fd5c426188
16:2169323 PKD1 G>A	16	2169323	2169323	G	A	PKD1	c.272C>T	NM_001009944.3	NP_001009944.3:p.(Ser91Leu)	NC_000016.9:g.2169323G>A	VUS	1 lab	18eb1dc91b
5:112175937 APC AAGAG>A	5	112175937	112175942	AAGAG	A	APC	c.4648_4651del	NM_000038.6	NP_000029.2:p.(Glu1550LysfsTer14)	NC_000005.9:g.112175939_112175942del	(Likely) pathogenic	1 lab	fd62cf0f85
8:61765636 CHD7 A>G	8	61765636	61765636	A	G	CHD7				NC_000008.10:g.61765636A>G	(Likely) benign	1 lab	fd65ce9ebd
1:196643083 CFH G>A	1	196643083	196643083	G	A	CFH	c.341G>A	NM_000186.3	NP_000177.2:p.(Cys114Tyr)	NC_000001.10:g.196643083G>A	VUS	1 lab	fd691c002f
8:106814181 ZFPM2 C>G	8	106814181	106814181	C	G	ZFPM2	c.1871C>G	NM_012082.3	NP_036214.2:p.(Ser624Cys)	NC_000008.10:g.106814181C>G	(Likely) benign	1 lab	fd6d3f68c8
2:167137020 SCN9A C>G	2	167137020	167137020	C	G	SCN9A	c.2157G>C	NM_002977.3	NP_002968.1:p.(Trp719Cys)	NC_000002.11:g.167137020C>G	(Likely) benign	1 lab	fd6d60a9c2
17:39925742 JUP G>A	17	39925742	39925742	G	A	JUP	c.396C>T	NM_002230.2	NP_002221.1:p.(Asn132=)	NC_000017.10:g.39925742G>A	VUS	1 lab	fd6f9a915e
6:32729459 HLA-DQB2 C>T	6	32729459	32729459	C	T	HLA-DQB2	c.342G>A	NM_001198858.2	NP_001185787.1:p.(Leu114=)	NC_000006.11:g.32729459C>T	(Likely) benign	1 lab	18f0384f0a
6:31935562 SKIC2 C>T	6	31935562	31935562	C	T	SKIC2	c.2654C>T	NM_006929.5	NP_008860.4:p.(Pro885Leu)	NC_000006.11:g.31935562C>T	(Likely) benign	1 lab	197bbe6d2f
9:139411741 NOTCH1 TG>T	9	139411741	139411743	TG	T	NOTCH1	c.1537del	NM_017617.4	NP_060087.3:p.(Gln513SerfsTer118)	NC_000009.11:g.139411743del	(Likely) pathogenic	1 lab	fd71ed3289
11:22214903 ANO5 G>C	11	22214903	22214903	G	C	ANO5	c.-136G>C	NM_213599.2	NP_998764.1:p.?	NC_000011.9:g.22214903G>C	(Likely) benign	1 lab	fd7221a662
16:21734226 OTOA G>T	16	21734226	21734226	G	T	OTOA	c.1807G>T	NM_144672.3	NP_653273.3:p.(Val603Phe)	NC_000016.9:g.21734226G>T	VUS	1 lab	fd72dcafa8
14:23886225 MYH7 G>A	14	23886225	23886225	G	A	MYH7	c.4520-24C>T	NM_000257.2	NP_000248.2:p.?	NC_000014.8:g.23886225G>A	(Likely) benign	1 lab	fd72e121c5
17:56296004 MKS1 G>C	17	56296004	56296004	G	C	MKS1				NC_000017.10:g.56296004G>C	VUS	1 lab	fd7371b546
10:73587914 PSAP C>G	10	73587914	73587914	C	G	PSAP	c.577G>C	NM_002778.4	NP_002769.1:p.(Asp193His)	NC_000010.10:g.73587914C>G	VUS	1 lab	18f25b74db
22:24718729 SPECC1L A>G	22	24718729	24718729	A	G	SPECC1L	c.1781A>G	NM_015330.6	NP_056145.5:p.(Tyr594Cys)	NC_000022.10:g.24718729A>G	VUS	1 lab	18faa0e99b
X:76888892 ATRX A>G	X	76888892	76888892	A	G	ATRX	c.4957-20T>C	NM_000489.5	NP_000480.3:p.?	NC_000023.10:g.76888892A>G	(Likely) benign	1 lab	197cb73bbf
14:105834434 PACS2 G>A	14	105834434	105834434	G	A	PACS2	c.610G>A	NM_001100913.2	NP_001094383.2:p.(Glu204Lys)	NC_000014.8:g.105834434G>A	(Likely) pathogenic	1 lab	fd7c74a220
14:31344151 COCH G>C	14	31344151	31344151	G	C	COCH	c.7G>C	NM_004086.2	NP_004077.1:p.(Ala3Pro)	NC_000014.8:g.31344151G>C	VUS	1 lab	fd7d33a3f6
2:47635681 MSH2 ATTTGGCATATAA>G	2	47635681	47635693	ATTTGGCATATAA	G	MSH2	c.353_365delinsG	NM_000251.3	NP_000242.1:p.(Tyr118_Lys122delinsTrp)	NC_000002.11:g.47635681_47635693delinsG	(Likely) pathogenic	1 lab	fd7d5ce762
X:82764332 POU3F4 A>G	X	82764332	82764332	A	G	POU3F4	c.1000A>G	NM_000307.3	NP_000298.2:p.(Lys334Glu)	NC_000023.10:g.82764332A>G	(Likely) pathogenic	1 lab	fd7ffb425b
2:220290781 DES C>A	2	220290781	220290781	C	A	DES	c.*69C>A	NM_001927.3	NP_001918.3:p.?	NC_000002.11:g.220290781C>A	(Likely) benign	1 lab	fd803ea0e6
19:47249298 FKRP C>A	19	47249298	47249298	C	A	FKRP				NC_000019.9:g.47249298C>A	VUS	1 lab	fd81077dab
1:207304900 C4BPA T>C	1	207304900	207304900	T	C	C4BPA	c.899T>C	NM_000715.3	NP_000706.1:p.(Ile300Thr)	NC_000001.10:g.207304900T>C	(Likely) benign	1 lab	fd81dda047
3:129152758 MBD4 T>C	3	129152758	129152758	T	C	MBD4	c.1346A>G	NM_003925.3	NP_003916.1:p.(Gln449Arg)	NC_000003.11:g.129152758T>C	VUS	1 lab	1900a38633
5:147498128 SPINK5 G>A	5	147498128	147498128	G	A	SPINK5	c.2240+1G>A	NM_001127698.1	NP_001121170.1:p.?	NC_000005.9:g.147498128G>A	(Likely) pathogenic	1 lab	fd88045c36
2:48026971 MSH6 C>T	2	48026971	48026971	C	T	MSH6	c.1849C>T	NM_000179.3	NP_000170.1:p.(Leu617Phe)	NC_000002.11:g.48026971C>T	VUS	1 lab	fd88e25332
14:23870100 MYH6 C>T	14	23870100	23870100	C	T	MYH6	c.1228G>A	NM_002471.3	NP_002462.2:p.(Glu410Lys)	NC_000014.8:g.23870100C>T	(Likely) pathogenic	1 lab	fd8caeb813
16:2108820 TSC2 C>G	16	2108820	2108820	C	G	TSC2	c.921C>G	NM_001114382.3	NP_001107854.1:p.(His307Gln)	NC_000016.9:g.2108820C>G	VUS	1 lab	1903611aa3
5:156184586 SGCD T>C	5	156184586	156184586	T	C	SGCD	c.576-6T>C	NM_000337.5	NP_000328.2:p.?	NC_000005.9:g.156184586T>C	(Likely) benign	1 lab	fd907f2a7a
12:52163015 SCN8A C>A	12	52163015	52163015	C	A	SCN8A	c.3268C>A	NM_001330260.2	NP_001317189.1:p.(Pro1090Thr)	NC_000012.11:g.52163015C>A	VUS	1 lab	fd90fbd224
1:201328272 TNNT2 C>T	1	201328272	201328272	C	T	TNNT2	c.*66G>A	NM_001001430.2	NP_001001430.1:p.?	NC_000001.10:g.201328272C>T	(Likely) benign	1 lab	fd9768e1ff
19:42795878 CIC G>A	19	42795878	42795878	G	A	CIC	c.2867G>A	NM_015125.5	NP_055940.3:p.(Gly956Asp)	NC_000019.9:g.42795878G>A	VUS	1 lab	19036ac884
11:117863938 IL10RA C>A	11	117863938	117863938	C	A	IL10RA	c.368-18C>A	NM_001558.3	NP_001549.2:p.?	NC_000011.9:g.117863938C>A	(Likely) benign	1 lab	1983e3962f
3:38591689 SCN5A T>C	3	38591689	38591689	T	C	SCN5A	c.*123A>G	NM_198056.2	NP_932173.1:p.?	NC_000003.11:g.38591689T>C	(Likely) benign	1 lab	fd99ea34ab
X:17745185 NHS C>T	X	17745185	17745185	C	T	NHS	c.2896C>T	NM_198270.3	NP_938011.1:p.(Gln966Ter)	NC_000023.10:g.17745185C>T	(Likely) pathogenic	1 lab	fd99ed8060
10:78785039 KCNMA1 T>C	10	78785039	78785039	T	C	KCNMA1	c.1940+165A>G	NM_001014797.3	NP_001014797.1:p.?	NC_000010.10:g.78785039T>C	(Likely) benign	1 lab	1985bd9e38
14:75480637 MLH3 T>C	14	75480637	75480637	T	C	MLH3	c.*3148A>G	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75480637T>C	(Likely) benign	1 lab	fda2e317e6
5:112173917 APC C>T	5	112173917	112173917	C	T	APC	c.2626C>T	NM_000038.5	NP_000029.2:p.(Arg876Ter)	NC_000005.9:g.112173917C>T	(Likely) pathogenic	1 lab	fda6c6d4f9
15:72106416 NR2E3 T>G	15	72106416	72106416	T	G	NR2E3	c.1058T>G	NM_014249.2	NP_055064.1:p.(Leu353Arg)	NC_000015.9:g.72106416T>G	VUS	1 lab	fdaa72cfed
22:37470638 TMPRSS6 C>T	22	37470638	37470638	C	T	TMPRSS6	c.1468+12G>A	NM_153609.3	NP_705837.1:p.?	NC_000022.10:g.37470638C>T	(Likely) benign	1 lab	fdac9b8b1c
1:228547554 OBSCN C>T	1	228547554	228547554	C	T	OBSCN	c.21533-2723C>T	NM_001271223.2	NP_001258152.2:p.?	NC_000001.10:g.228547554C>T	(Likely) benign	1 lab	fdaf6a9134
11:76893467 MYO7A A>G	11	76893467	76893467	A	G	MYO7A	c.3109-2A>G	NM_000260.4	NP_000251.3:p.?	NC_000011.9:g.76893467A>G	(Likely) pathogenic	1 lab	fdaf97b30f
1:115250755 NRAS C>T	1	115250755	115250755	C	T	NRAS				NC_000001.10:g.115250755C>T	(Likely) benign	1 lab	19860576b3
1:181750616 CACNA1E C>T	1	181750616	181750616	C	T	CACNA1E	c.5321C>T	NM_001205293.3	NP_001192222.1:p.(Pro1774Leu)	NC_000001.10:g.181750616C>T	VUS	1 lab	fdb27cd415
22:31333595 MORC2 C>T	22	31333595	31333595	C	T	MORC2	c.1473G>A	NM_001303256.2	NP_001290185.1:p.(Met491Ile)	NC_000022.10:g.31333595C>T	(Likely) benign	1 lab	fdb51cfab8
7:47867040 PKD1L1 G>C	7	47867040	47867040	G	C	PKD1L1	c.6762C>G	NM_138295.4	NP_612152.1:p.(Arg2254=)	NC_000007.13:g.47867040G>C	(Likely) benign	1 lab	fdb72afbb6
9:98232117 PTCH1 CCA>C	9	98232117	98232119	CCA	C	PTCH1	c.1823_1824del	NM_000264.3	NP_000255.2:p.(Leu608ArgfsTer18)	NC_000009.11:g.98232118_98232119del	(Likely) pathogenic	1 lab	fdb8466813
19:5708383 LONP1 C>T	19	5708383	5708383	C	T	LONP1	c.902G>A	NM_004793.4	NP_004784.2:p.(Arg301Gln)	NC_000019.9:g.5708383C>T	(Likely) pathogenic	1 lab	fdb8a68f02
20:23345158 GZF1 C>A	20	23345158	23345158	C	A	GZF1	c.138C>A	NM_022482.5	NP_071927.1:p.(Phe46Leu)	NC_000020.10:g.23345158C>A	VUS	1 lab	fdb9d04586
3:38912164 SCN11A G>C	3	38912164	38912164	G	C	SCN11A	c.3813+18C>G	NM_014139.2	NP_054858.2:p.?	NC_000003.11:g.38912164G>C	(Likely) benign	1 lab	fdbf5c1984
X:25028387 ARX G>A	X	25028387	25028387	G	A	ARX	c.1109C>T	NM_139058.2	NP_620689.1:p.(Ala370Val)	NC_000023.10:g.25028387G>A	VUS	1 lab	fdc22e339f
11:68192628 LRP5 G>T	11	68192628	68192628	G	T	LRP5	c.3295G>T	NM_002335.3	NP_002326.2:p.(Asp1099Tyr)	NC_000011.9:g.68192628G>T	VUS	1 lab	fdc38c6bd6
X:153578552 FLNA G>A	X	153578552	153578552	G	A	FLNA	c.7180C>T	NM_001110556.1	NP_001104026.1:p.(Pro2394Ser)	NC_000023.10:g.153578552G>A	(Likely) benign	1 lab	fdc77820df
19:33351538 SLC7A9 G>A	19	33351538	33351538	G	A	SLC7A9	c.723C>T	NM_014270.5	NP_055085.1:p.(Ile241=)	NC_000019.9:g.33351538G>A	(Likely) benign	1 lab	fdc77bf714
1:94466422 ABCA4 C>T	1	94466422	94466422	C	T	ABCA4	c.6449G>A	NM_000350.2	NP_000341.2:p.(Cys2150Tyr)	NC_000001.10:g.94466422C>T	(Likely) pathogenic	1 lab	fdc9389bdb
7:75959485 YWHAG G>T	7	75959485	75959485	G	T	YWHAG	c.153C>A	NM_012479.4	NP_036611.2:p.(Asn51Lys)	NC_000007.13:g.75959485G>T	VUS	1 lab	1905b9272b
12:6128463 VWF C>T	12	6128463	6128463	C	T	VWF	c.4121G>A	NM_000552.3	NP_000543.2:p.(Arg1374His)	NC_000012.11:g.6128463C>T	(Likely) pathogenic	1 lab	fdc97fa082
10:123260112 FGFR2 T>A	10	123260112	123260112	T	A	FGFR2	c.1561+228A>T	NM_000141.4	NP_000132.3:p.?	NC_000010.10:g.123260112T>A	(Likely) benign	1 lab	fdcd022d5d
3:71026115 FOXP1 G>A	3	71026115	71026115	G	A	FOXP1				NC_000003.11:g.71026115G>A	(Likely) pathogenic	1 lab	fdcd61ddf7
14:23883054 MYH7 C>T	14	23883054	23883054	C	T	MYH7	c.5704G>A	NM_000257.3	NP_000248.2:p.(Glu1902Lys)	NC_000014.8:g.23883054C>T	VUS	1 lab	fdcd8cad4e
15:23060875 NIPA1 G>C	15	23060875	23060875	G	C	NIPA1				NC_000015.9:g.23060875G>C	VUS	1 lab	fdce0ea5fe
3:47888153 DHX30 G>T	3	47888153	47888153	G	T	DHX30	c.1591G>T	NM_138615.2	NP_619520.1:p.(Ala531Ser)	NC_000003.11:g.47888153G>T	VUS	1 lab	fdce2edaf5
3:193384949 OPA1 C>G	3	193384949	193384949	C	G	OPA1	c.2873-10C>G	NM_130837.2	NP_570850.2:p.?	NC_000003.11:g.193384949C>G	VUS	1 lab	fdcf59dbb3
6:33138661 COL11A2 G>A	6	33138661	33138661	G	A	COL11A2	c.3400C>T	NM_080680.2	NP_542411.2:p.(Gln1134Ter)	NC_000006.11:g.33138661G>A	(Likely) pathogenic	1 lab	fdd03c3317
19:1221954 STK11 T>C	19	1221954	1221954	T	C	STK11	c.869T>C	NM_000455.4	NP_000446.1:p.(Leu290Pro)	NC_000019.9:g.1221954T>C	(Likely) pathogenic	1 lab	fdd0d67a29
17:59763496 BRIP1 T>C	17	59763496	59763496	T	C	BRIP1	c.2606A>G	NM_032043.3	NP_114432.2:p.(Gln869Arg)	NC_000017.10:g.59763496T>C	VUS	1 lab	fdd51bb2c3
16:23646927 PALB2 G>A	16	23646927	23646927	G	A	PALB2	c.940C>T	NM_024675.3	NP_078951.2:p.(Gln314Ter)	NC_000016.9:g.23646927G>A	(Likely) pathogenic	1 lab	fdd752ab6e
3:81698996 GBE1 TC>T	3	81698996	81698997	TC	T	GBE1	c.505del	NM_000158.3	NP_000149.3:p.(Asp169IlefsTer3)	NC_000003.11:g.81698997del	(Likely) pathogenic	1 lab	fdd7dd3d3b
1:45795061 MUTYH G>A	1	45795061	45795061	G	A	MUTYH	c.1567C>T	NM_001128425.1	NP_001121897.1:p.(Arg523Cys)	NC_000001.10:g.45795061G>A	(Likely) benign	1 lab	fdd85c8b43
3:52485573 TNNC1 T>C	3	52485573	52485573	T	C	TNNC1	c.318-30A>G	NM_003280.2	NP_003271.1:p.?	NC_000003.11:g.52485573T>C	(Likely) benign	1 lab	fdd87947ce
21:43816173 TMPRSS3 A>C	21	43816173	43816173	A	C	TMPRSS3	c.-174T>G	NM_024022.2	NP_076927.1:p.?	NC_000021.8:g.43816173A>C	(Likely) benign	1 lab	fdda3bf174
12:53298582 KRT8 C>A	12	53298582	53298582	C	A	KRT8	c.184G>T	NM_002273.4	NP_002264.1:p.(Gly62Cys)	NC_000012.11:g.53298582C>A	(Likely) benign	1 lab	fdda6d89de
21:36252876 RUNX1 C>CT	21	36252876	36252877	C	CT	RUNX1	c.485_486insA	NM_001754.4	NP_001745.2:p.(Phe163ValfsTer50)	NC_000021.8:g.36252876_36252877insT	(Likely) pathogenic	1 lab	fddb8dc04b
5:112175858 APC A>T	5	112175858	112175858	A	T	APC	c.4567A>T	NM_000038.6	NP_000029.2:p.(Arg1523Ter)	NC_000005.9:g.112175858A>T	(Likely) pathogenic	1 lab	fddc72c1e5
X:44929589 KDM6A C>G	X	44929589	44929589	C	G	KDM6A				NC_000023.10:g.44929589C>G	(Likely) benign	1 lab	fde3024e00
16:67681502 CARMIL2 C>T	16	67681502	67681502	C	T	CARMIL2	c.868C>T	NM_001013838.2	NP_001013860.1:p.(Arg290Ter)	NC_000016.9:g.67681502C>T	(Likely) pathogenic	1 lab	fde3d4d4d7
3:49064190 IMPDH2 A>G	3	49064190	49064190	A	G	IMPDH2	c.749T>C	NM_000884.3	NP_000875.2:p.(Ile250Thr)	NC_000003.11:g.49064190A>G	VUS	1 lab	19077a443a
22:29085155 CHEK2 C>G	22	29085155	29085155	C	G	CHEK2	c.1510G>C	NM_007194.3	NP_009125.1:p.(Glu504Gln)	NC_000022.10:g.29085155C>G	(Likely) benign	1 lab	fde4981c89
6:99322317 FBXL4 C>G	6	99322317	99322317	C	G	FBXL4	c.1703G>C	NM_001278716.1	NP_001265645.1:p.(Gly568Ala)	NC_000006.11:g.99322317C>G	(Likely) pathogenic	1 lab	fde6ea97ac
13:60240571 DIAPH3 A>T	13	60240571	60240571	A	T	DIAPH3	c.*147T>A	NM_001042517.1	NP_001035982.1:p.?	NC_000013.10:g.60240571A>T	(Likely) benign	1 lab	fde8cb4fb9
9:129376756 LMX1B CT>CT	9	129376756	129376757	CT	CT	LMX1B				NC_000009.11:g.129376756_129376757=	VUS	1 lab	fde92c32db
X:119572579 LAMP2 ACACACAC>A	X	119572579	119572586	ACACACAC	A	LAMP2	c.1093+2999_1093+3005del	NM_002294.3	NP_002285.1:p.?	NC_000023.10:g.119572580_119572586del	(Likely) benign	1 lab	190848b06c
12:6128563 VWF G>A	12	6128563	6128563	G	A	VWF	c.4021C>T	NM_000552.3	NP_000543.2:p.(Arg1341Trp)	NC_000012.11:g.6128563G>A	(Likely) pathogenic	1 lab	fdebe4a9f9
2:179456002 TTN T>G	2	179456002	179456002	T	G	TTN	c.60450A>C	NM_001267550.2	NP_001254479.2:p.(Gln20150His)	NC_000002.11:g.179456002T>G	(Likely) benign	1 lab	fdf15ff40f
3:37090503 MLH1 C>T	3	37090503	37090503	C	T	MLH1	c.2098C>T	NM_000249.3	NP_000240.1:p.(Gln700Ter)	NC_000003.11:g.37090503C>T	(Likely) pathogenic	1 lab	fdf16f9b9b
10:119014797 SLC18A2 C>G	10	119014797	119014797	C	G	SLC18A2	c.710C>G	NM_003054.6	NP_003045.2:p.(Pro237Arg)	NC_000010.10:g.119014797C>G	(Likely) pathogenic	1 lab	fdf4a99036
16:89599180 SPG7 G>GA	16	89599180	89599192	G	GA	SPG7	c.1324+148dup	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89599192dup	(Likely) benign	1 lab	1986de172d
5:176638532 NSD1 C>A	5	176638532	176638532	C	A	NSD1	c.3132C>A	NM_022455.5	NP_071900.2:p.(Asn1044Lys)	NC_000005.9:g.176638532C>A	VUS	1 lab	fdfab9c39d
2:121742269 GLI2 G>GC	2	121742269	121742271	G	GC	GLI2	c.1908dup	NM_005270.4	NP_005261.2:p.(Val637ArgfsTer42)	NC_000002.11:g.121742271dup	(Likely) pathogenic	1 lab	fe00d79078
19:1220321 STK11 T>C	19	1220321	1220321	T	C	STK11	c.465-51T>C	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220321T>C	(Likely) benign	1 lab	fe02a24746
7:6026409 PMS2 C>A	7	6026409	6026409	C	A	PMS2	c.1987G>T	NM_000535.7	NP_000526.2:p.(Glu663Ter)	NC_000007.13:g.6026409C>A	(Likely) pathogenic	1 lab	fe058a97a8
3:38938697 SCN11A G>T	3	38938697	38938697	G	T	SCN11A	c.2042C>A	NM_014139.2	NP_054858.2:p.(Ala681Asp)	NC_000003.11:g.38938697G>T	(Likely) pathogenic	1 lab	fe0699a057
8:113650920 CSMD3 C>G	8	113650920	113650920	C	G	CSMD3	c.3526+5G>C	NM_198123.2	NP_937756.1:p.?	NC_000008.10:g.113650920C>G	VUS	1 lab	fe0714b2e6
17:54671975 NOG C>T	17	54671975	54671975	C	T	NOG	c.391C>T	NM_005450.4	NP_005441.1:p.(Gln131Ter)	NC_000017.10:g.54671975C>T	(Likely) pathogenic	1 lab	fe0bd98713
20:25284232 ABHD12 A>G	20	25284232	25284232	A	G	ABHD12				NC_000020.10:g.25284232A>G	VUS	1 lab	fe0c29a465
16:2106722 TSC2 C>T	16	2106722	2106722	C	T	TSC2	c.726C>T	NM_000548.5	NP_000539.2:p.(Thr242=)	NC_000016.9:g.2106722C>T	(Likely) benign	1 lab	190e6c9ef7
5:1280399 TERT C>A	5	1280399	1280399	C	A	TERT	c.1824G>T	NM_198253.2	NP_937983.2:p.(Gln608His)	NC_000005.9:g.1280399C>A	(Likely) benign	1 lab	fe1312ad9c
1:237850741 RYR2 T>A	1	237850741	237850741	T	A	RYR2	c.9018-14T>A	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237850741T>A	VUS	1 lab	1987825b9c
2:25497908 DNMT3A G>A	2	25497908	25497908	G	A	DNMT3A				NC_000002.11:g.25497908G>A	(Likely) pathogenic	1 lab	fe1700c695
19:1220578 STK11 A>G	19	1220578	1220578	A	G	STK11	c.598-2A>G	NM_000455.4	NP_000446.1:p.?	NC_000019.9:g.1220578A>G	(Likely) pathogenic	1 lab	fe1c47ef3f
8:55539395 RP1 A>T	8	55539395	55539395	A	T	RP1	c.2953A>T	NM_006269.1	NP_006260.1:p.(Asn985Tyr)	NC_000008.10:g.55539395A>T	(Likely) benign	1 lab	fe1e90955a
12:48272764 VDR T>C	12	48272764	48272764	T	C	VDR	c.133A>G	NM_001017535.1	NP_001017535.1:p.(Lys45Glu)	NC_000012.11:g.48272764T>C	(Likely) pathogenic	1 lab	fe1ec75f7f
2:170148745 LRP2 A>G	2	170148745	170148745	A	G	LRP2	c.769+18T>C	NM_004525.2	NP_004516.2:p.?	NC_000002.11:g.170148745A>G	(Likely) benign	1 lab	fe1f3b55b0
7:25163615 CYCS C>T	7	25163615	25163615	C	T	CYCS	c.124G>A	NM_018947.6	NP_061820.1:p.(Gly42Ser)	NC_000007.13:g.25163615C>T	(Likely) pathogenic	1 lab	fe21f67a54
20:18529382 SEC23B C>A	20	18529382	18529382	C	A	SEC23B	c.1873C>A	NM_006363.6	NP_006354.2:p.(Leu625Ile)	NC_000020.10:g.18529382C>A	VUS	1 lab	191a777cfe
6:7585261 DSP CAGTA>C	6	7585261	7585271	CAGTA	C	DSP	c.7773_7776del	NM_004415.4	NP_004406.2:p.(Ser2591ArgfsTer11)	NC_000006.11:g.7585268_7585271del	(Likely) pathogenic	1 lab	fe2d3ade1e
5:89979677 ADGRV1 T>C	5	89979677	89979677	T	C	ADGRV1	c.5939T>C	NM_032119.3	NP_115495.3:p.(Ile1980Thr)	NC_000005.9:g.89979677T>C	VUS	1 lab	fe2f104695
11:118373400 KMT2A A>C	11	118373400	118373400	A	C	KMT2A	c.6793A>C	NM_001197104.1	NP_001184033.1:p.(Thr2265Pro)	NC_000011.9:g.118373400A>C	(Likely) benign	1 lab	fe34ba0d2f
5:110814116 CAMK4 G>A	5	110814116	110814116	G	A	CAMK4	c.739G>A	NM_001744.6	NP_001735.1:p.(Asp247Asn)	NC_000005.9:g.110814116G>A	VUS	1 lab	191c7f6748
2:225365163 CUL3 CG>C	2	225365163	225365164	CG	C	CUL3				NC_000002.11:g.225365164del	(Likely) pathogenic	1 lab	fe3bb9e749
2:106015482 FHL2 T>C	2	106015482	106015482	T	C	FHL2	c.-380A>G	NM_201555.1	NP_963849.1:p.?	NC_000002.11:g.106015482T>C	(Likely) benign	1 lab	fe3fa3074d
5:112154808 APC T>G	5	112154808	112154808	T	G	APC	c.1079T>G	NM_000038.5	NP_000029.2:p.(Leu360Ter)	NC_000005.9:g.112154808T>G	(Likely) pathogenic	1 lab	fe3ff998e4
2:179410622 TTN G>A	2	179410622	179410622	G	A	TTN	c.68521C>T	NM_133432.3	NP_597676.3:p.(Arg22841Ter)	NC_000002.11:g.179410622G>A	(Likely) pathogenic	1 lab	198bdbabec
7:143027882 CLCN1 G>T	7	143027882	143027882	G	T	CLCN1	c.871G>T	NM_000083.2	NP_000074.2:p.(Glu291Ter)	NC_000007.13:g.143027882G>T	(Likely) pathogenic	1 lab	fe44310acf
21:35742806 KCNE2 C>T	21	35742806	35742806	C	T	KCNE2	c.29C>T	NM_172201.2	NP_751951.1:p.(Thr10Met)	NC_000021.8:g.35742806C>T	(Likely) benign	1 lab	fe44f67b7f
5:140903709 DIAPH1 C>G	5	140903709	140903709	C	G	DIAPH1	c.3661+1G>C	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140903709C>G	(Likely) pathogenic	1 lab	fe4539a71e
1:154574829 ADAR C>T	1	154574829	154574829	C	T	ADAR	c.289G>A	NM_001111.5	NP_001102.3:p.(Val97Met)	NC_000001.10:g.154574829C>T	VUS	1 lab	191cd312ba
X:56292036 KLF8 C>T	X	56292036	56292036	C	T	KLF8				NC_000023.10:g.56292036C>T	(Likely) benign	1 lab	fe47d9ce83
21:47544808 COL6A2 G>A	21	47544808	47544808	G	A	COL6A2	c.1744G>A	NM_001849.3	NP_001840.3:p.(Gly582Ser)	NC_000021.8:g.47544808G>A	(Likely) pathogenic	1 lab	fe512cd534
11:3040460 CARS1 G>T	11	3040460	3040460	G	T	CARS1	c.1304C>A	NM_001014437.3	NP_001014437.1:p.(Ala435Glu)	NC_000011.9:g.3040460G>T	(Likely) pathogenic	1 lab	191e2746e5
2:179528818 TTN T>C	2	179528818	179528818	T	C	TTN	c.36288A>G	NM_001267550.2	NP_001254479.2:p.(Glu12096=)	NC_000002.11:g.179528818T>C	(Likely) benign	1 lab	fe54508f8b
2:103095531 SLC9A4 T>C	2	103095531	103095531	T	C	SLC9A4	c.490T>C	NM_001011552.3	NP_001011552.2:p.(Leu164=)	NC_000002.11:g.103095531T>C	(Likely) benign	1 lab	fe54ce3b19
2:5833538 SOX11 G>A	2	5833538	5833538	G	A	SOX11	c.685G>A	NM_003108.4	NP_003099.1:p.(Asp229Asn)	NC_000002.11:g.5833538G>A	VUS	1 lab	191fb3cba7
X:41196652 DDX3X CTCT>C	X	41196652	41196658	CTCT	C	DDX3X	c.46-5_46-3del	NM_001356.4	NP_001347.3:p.?	NC_000023.10:g.41196656_41196658del	(Likely) pathogenic	1 lab	fe60eb06bd
15:89864019 POLG C>T	15	89864019	89864019	C	T	POLG	c.2959G>A	NM_002693.3	NP_002684.1:p.(Ala987Thr)	NC_000015.9:g.89864019C>T	VUS	1 lab	fe637510c9
10:89624296 PTEN G>T	10	89624296	89624296	G	T	PTEN	c.70G>T	NM_000314.4	NP_000305.3:p.(Asp24Tyr)	NC_000010.10:g.89624296G>T	(Likely) pathogenic	1 lab	fe66caf900
5:66460460 MAST4 C>G	5	66460460	66460460	C	G	MAST4	c.4886C>G	NM_015183.3	NP_055998.1:p.(Thr1629Arg)	NC_000005.9:g.66460460C>G	VUS	1 lab	1920164196
19:36340520 NPHS1 A>C	19	36340520	36340520	A	C	NPHS1				NC_000019.9:g.36340520A>C	(Likely) pathogenic	1 lab	ff43f9d31c
10:104353483 SUFU G>A	10	104353483	104353483	G	A	SUFU	c.683+5G>A	NM_016169.4	NP_057253.2:p.?	NC_000010.10:g.104353483G>A	(Likely) pathogenic	1 lab	fe6a24abed
17:41244209 BRCA1 A>C	17	41244209	41244209	A	C	BRCA1	c.3339T>G	NM_007294.3	NP_009225.1:p.(Tyr1113Ter)	NC_000017.10:g.41244209A>C	(Likely) pathogenic	1 lab	fe6c3dd03f
17:76451800 DNAH17 C>T	17	76451800	76451800	C	T	DNAH17	c.10096G>A	NM_173628.4	NP_775899.3:p.(Val3366Met)	NC_000017.10:g.76451800C>T	VUS	1 lab	fe6cbf858e
8:75276442 GDAP1 C>T	8	75276442	75276442	C	T	GDAP1	c.917C>T	NM_018972.2	NP_061845.2:p.(Pro306Leu)	NC_000008.10:g.75276442C>T	VUS	1 lab	fe6d7be967
20:43255157 ADA C>T	20	43255157	43255157	C	T	ADA	c.302G>A	NM_000022.4	NP_000013.2:p.(Arg101Gln)	NC_000020.10:g.43255157C>T	(Likely) pathogenic	1 lab	fe6d8fde21
1:226111444 PYCR2 G>T	1	226111444	226111444	G	T	PYCR2	c.95C>A	NM_013328.4	NP_037460.2:p.(Ala32Asp)	NC_000001.10:g.226111444G>T	VUS	1 lab	fe6e4aae64
20:30408136 MYLK2 C>T	20	30408136	30408136	C	T	MYLK2	c.260C>T	NM_033118.3	NP_149109.1:p.(Ala87Val)	NC_000020.10:g.30408136C>T	(Likely) benign	1 lab	199291d093
2:5833023 SOX11 T>C	2	5833023	5833023	T	C	SOX11	c.170T>C	NM_003108.4	NP_003099.1:p.(Met57Thr)	NC_000002.11:g.5833023T>C	(Likely) pathogenic	1 lab	fe6f1a0ae0
22:51117349 SHANK3 G>A	22	51117349	51117349	G	A	SHANK3	c.825+1G>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51117349G>A	VUS	1 lab	fe70e0fddf
15:44907581 SPG11 A>T	15	44907581	44907581	A	T	SPG11	c.3018T>A	NM_025137.3	NP_079413.3:p.(Tyr1006Ter)	NC_000015.9:g.44907581A>T	(Likely) pathogenic	1 lab	fe7640a974
6:7230709 RREB1 A>C	6	7230709	7230709	A	C	RREB1	c.2377A>C	NM_001003699.4	NP_001003699.1:p.(Lys793Gln)	NC_000006.11:g.7230709A>C	VUS	1 lab	fe78e2d611
16:23652462 PALB2 C>T	16	23652462	23652462	C	T	PALB2	c.17G>A	NM_024675.3	NP_078951.2:p.(Gly6Glu)	NC_000016.9:g.23652462C>T	VUS	1 lab	fe799bfb8a
2:71892353 DYSF C>T	2	71892353	71892353	C	T	DYSF	c.5236C>T	NM_001130987.1	NP_001124459.1:p.(Gln1746Ter)	NC_000002.11:g.71892353C>T	(Likely) pathogenic	1 lab	fe79eae50c
19:16596064 CALR3 G>A	19	16596064	16596064	G	A	CALR3	c.402C>T	NM_145046.4	NP_659483.2:p.(Pro134=)	NC_000019.9:g.16596064G>A	(Likely) benign	1 lab	fe824b0590
5:112175273 APC C>T	5	112175273	112175273	C	T	APC	c.3982C>T	NM_000038.6	NP_000029.2:p.(Gln1328Ter)	NC_000005.9:g.112175273C>T	(Likely) pathogenic	1 lab	fe8658d8dd
11:68193556 LRP5 G>A	11	68193556	68193556	G	A	LRP5	c.3538G>A	NM_002335.4	NP_002326.2:p.(Val1180Met)	NC_000011.9:g.68193556G>A	VUS	1 lab	fe86eb3620
6:121768406 GJA1 G>A	6	121768406	121768406	G	A	GJA1	c.413G>A	NM_000165.3	NP_000156.1:p.(Gly138Asp)	NC_000006.11:g.121768406G>A	(Likely) pathogenic	1 lab	fe87713340
8:99441463 KCNS2 G>A	8	99441463	99441463	G	A	KCNS2	c.1256G>A	NM_020697.2	NP_065748.1:p.(Arg419His)	NC_000008.10:g.99441463G>A	VUS	1 lab	fe87f6300d
6:7581733 DSP TA>T	6	7581733	7581735	TA	T	DSP	c.5312del	NM_004415.4	NP_004406.2:p.(Asn1771MetfsTer10)	NC_000006.11:g.7581735del	(Likely) pathogenic	1 lab	19234aa7b4
1:12020824 PLOD1 C>T	1	12020824	12020824	C	T	PLOD1	c.1097C>T	NM_000302.3	NP_000293.2:p.(Ala366Val)	NC_000001.10:g.12020824C>T	VUS	1 lab	fe8a4894fa
1:158648105 SPTA1 A>C	1	158648105	158648105	A	C	SPTA1	c.812+86T>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158648105A>C	(Likely) benign	1 lab	199812707d
14:23866477 MYH6 A>G	14	23866477	23866477	A	G	MYH6	c.1963-11T>C	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23866477A>G	(Likely) benign	1 lab	fe8c544293
2:73613031 MISSING T>TGGAGGA	2	73613031	73613070	T	TGGAGGA	MISSING				NC_000002.11:g.73613065_73613070dup	(Likely) benign	1 lab	fe91944ec2
13:32930592 BRCA2 G>C	13	32930592	32930592	G	C	BRCA2	c.7463G>C	NM_000059.3	NP_000050.2:p.(Arg2488Thr)	NC_000013.10:g.32930592G>C	VUS	1 lab	fe9267f280
21:36231774 RUNX1 G>A	21	36231774	36231774	G	A	RUNX1	c.610C>T	NM_001754.4	NP_001745.2:p.(Arg204Ter)	NC_000021.8:g.36231774G>A	(Likely) pathogenic	1 lab	fe92e7233e
13:110822921 COL4A1 C>T	13	110822921	110822921	C	T	COL4A1	c.3715G>A	NM_001845.4	NP_001836.2:p.(Gly1239Arg)	NC_000013.10:g.110822921C>T	(Likely) pathogenic	1 lab	fe94ef5c54
5:112173848 APC G>T	5	112173848	112173848	G	T	APC	c.2557G>T	NM_000038.6	NP_000029.2:p.(Glu853Ter)	NC_000005.9:g.112173848G>T	(Likely) pathogenic	1 lab	fe993e71b6
14:105170256 INF2 T>G	14	105170256	105170256	T	G	INF2	c.671T>G	NM_022489.3	NP_071934.3:p.(Leu224Arg)	NC_000014.8:g.105170256T>G	(Likely) pathogenic	1 lab	fe9c7d1936
10:68940187 CTNNA3 G>A	10	68940187	68940187	G	A	CTNNA3	c.935C>T	NM_013266.3	NP_037398.2:p.(Ala312Val)	NC_000010.10:g.68940187G>A	VUS	1 lab	fe9c7d89e7
4:3210589 HTT C>T	4	3210589	3210589	C	T	HTT	c.6248C>T	NM_002111.8	NP_002102.4:p.(Pro2083Leu)	NC_000004.11:g.3210589C>T	VUS	1 lab	1925ff2803
1:12057369 MFN2 G>A	1	12057369	12057369	G	A	MFN2	c.490G>A	NM_014874.3	NP_055689.1:p.(Ala164Thr)	NC_000001.10:g.12057369G>A	(Likely) pathogenic	1 lab	fea268e0a8
6:87971399 ZNF292 A>C	6	87971399	87971399	A	C	ZNF292	c.8052A>C	NM_015021.1	NP_055836.1:p.(Gln2684His)	NC_000006.11:g.87971399A>C	VUS	1 lab	fea3502352
X:103040698 PLP1 G>T	X	103040698	103040698	G	T	PLP1	c.191+1G>T	NM_001128834.1	NP_001122306.1:p.?	NC_000023.10:g.103040698G>T	(Likely) pathogenic	1 lab	fea3db66f7
13:50283796 KPNA3 G>A	13	50283796	50283796	G	A	KPNA3	c.944C>T	NM_002267.4	NP_002258.2:p.(Thr315Ile)	NC_000013.10:g.50283796G>A	(Likely) pathogenic	1 lab	fea58d234a
X:40448233 ATP6AP2 T>C	X	40448233	40448233	T	C	ATP6AP2	c.38-5T>C	NM_005765.3	NP_005756.2:p.?	NC_000023.10:g.40448233T>C	(Likely) benign	1 lab	199a765390
2:228158000 COL4A3 G>GC	2	228158000	228158004	G	GC	COL4A3	c.3308dup	NM_000091.4	NP_000082.2:p.(Gly1104TrpfsTer17)	NC_000002.11:g.228158004dup	(Likely) pathogenic	1 lab	fea8a7f299
19:50910288 POLD1 G>T	19	50910288	50910288	G	T	POLD1	c.1543G>T	NM_002691.3	NP_002682.2:p.(Asp515Tyr)	NC_000019.9:g.50910288G>T	VUS	1 lab	fea8ca315e
4:151789460 LRBA G>T	4	151789460	151789460	G	T	LRBA	c.2450-3C>A	NM_001199282.2	NP_001186211.2:p.?	NC_000004.11:g.151789460G>T	(Likely) pathogenic	1 lab	199c447308
1:228558906 OBSCN G>C	1	228558906	228558906	G	C	OBSCN	c.23298G>C	NM_001271223.2	NP_001258152.2:p.(Leu7766=)	NC_000001.10:g.228558906G>C	(Likely) benign	1 lab	feabe1ed4c
2:215872505 ABCA12 C>T	2	215872505	215872505	C	T	ABCA12	c.2538G>A	NM_173076.2	NP_775099.2:p.(Ser846=)	NC_000002.11:g.215872505C>T	(Likely) benign	1 lab	feabf7d43f
22:38369662 SOX10 T>G	22	38369662	38369662	T	G	SOX10	c.1241A>C	NM_006941.4	NP_008872.1:p.(His414Pro)	NC_000022.10:g.38369662T>G	VUS	1 lab	feafe1f107
1:152280575 FLG C>T	1	152280575	152280575	C	T	FLG	c.6787G>A	NM_002016.1	NP_002007.1:p.(Ala2263Thr)	NC_000001.10:g.152280575C>T	(Likely) benign	1 lab	feb09ebf6e
1:154542216 CHRNB2 G>A	1	154542216	154542216	G	A	CHRNB2	c.211-52G>A	NM_000748.3	NP_000739.1:p.?	NC_000001.10:g.154542216G>A	(Likely) benign	1 lab	199f5acfc5
1:40773427 COL9A2 C>G	1	40773427	40773427	C	G	COL9A2	c.902G>C	NM_001852.3	NP_001843.1:p.(Gly301Ala)	NC_000001.10:g.40773427C>G	VUS	1 lab	feb206a997
16:9943666 GRIN2A C>T	16	9943666	9943666	C	T	GRIN2A	c.1275G>A	NM_001134407.1	NP_001127879.1:p.(Leu425=)	NC_000016.9:g.9943666C>T	(Likely) benign	1 lab	feb240d08e
X:149831934 MTM1 G>T	X	149831934	149831934	G	T	MTM1	c.1496G>T	NM_000252.2	NP_000243.1:p.(Trp499Leu)	NC_000023.10:g.149831934G>T	VUS	1 lab	feb4325f62
2:170029618 LRP2 C>T	2	170029618	170029618	C	T	LRP2	c.11131G>A	NM_004525.2	NP_004516.2:p.(Glu3711Lys)	NC_000002.11:g.170029618C>T	VUS	1 lab	feb66b25eb
17:18059549 MYO15A A>G	17	18059549	18059549	A	G	MYO15A	c.8500A>G	NM_016239.3	NP_057323.3:p.(Met2834Val)	NC_000017.10:g.18059549A>G	VUS	1 lab	feb85c2441
7:6021393 PMS2 G>T	7	6021393	6021393	G	T	PMS2	c.2174+1062C>A	NM_000535.6	NP_000526.2:p.?	NC_000007.13:g.6021393G>T	(Likely) benign	1 lab	feba934904
8:61742999 CHD7 A>G	8	61742999	61742999	A	G	CHD7				NC_000008.10:g.61742999A>G	(Likely) pathogenic	1 lab	ffb0c9d7bb
18:59824979 PIGN C>T	18	59824979	59824979	C	T	PIGN	c.284G>A	NM_176787.5	NP_789744.1:p.(Arg95Gln)	NC_000018.9:g.59824979C>T	(Likely) pathogenic	1 lab	febbba1401
5:149737312 TCOF1 G>A	5	149737312	149737312	G	A	TCOF1	c.3G>A	NM_001135243.1	NP_001128715.1:p.(Met1?)	NC_000005.9:g.149737312G>A	(Likely) pathogenic	1 lab	febd2b5863
18:50866168 DCC C>G	18	50866168	50866168	C	G	DCC	c.2250C>G	NM_005215.4	NP_005206.2:p.(Asn750Lys)	NC_000018.9:g.50866168C>G	VUS	1 lab	192c597421
5:33984542 SLC45A2 G>T	5	33984542	33984542	G	T	SLC45A2	c.147C>A	NM_016180.4	NP_057264.3:p.(Tyr49Ter)	NC_000005.9:g.33984542G>T	(Likely) pathogenic	1 lab	fec598d043
7:33169660 BBS9 T>C	7	33169660	33169660	T	C	BBS9	c.-12+7T>C	NM_198428.2	NP_940820.1:p.?	NC_000007.13:g.33169660T>C	(Likely) benign	1 lab	fecdabc529
5:149753851 TCOF1 C>T	5	149753851	149753851	C	T	TCOF1	c.985C>T	NM_001135243.1	NP_001128715.1:p.(Gln329Ter)	NC_000005.9:g.149753851C>T	(Likely) pathogenic	1 lab	fecdc6ebc1
3:37090475 MLH1 C>G	3	37090475	37090475	C	G	MLH1	c.2070C>G	NM_000249.4	NP_000240.1:p.(Tyr690Ter)	NC_000003.11:g.37090475C>G	(Likely) pathogenic	1 lab	fed0b1f308
13:32907098 BRCA2 G>T	13	32907098	32907098	G	T	BRCA2	c.1483G>T	NM_000059.3	NP_000050.2:p.(Ala495Ser)	NC_000013.10:g.32907098G>T	(Likely) benign	1 lab	fed3613415
16:89347198 ANKRD11 G>A	16	89347198	89347198	G	A	ANKRD11	c.5752C>T	NM_001256182.2	NP_001243111.1:p.(Gln1918Ter)	NC_000016.9:g.89347198G>A	(Likely) pathogenic	1 lab	19a70de559
4:184585120 TRAPPC11 C>T	4	184585120	184585120	C	T	TRAPPC11				NC_000004.11:g.184585120C>T	(Likely) pathogenic	1 lab	fee0665ba8
2:47630455 MSH2 TC>T	2	47630455	47630456	TC	T	MSH2	c.126del	NM_000251.3	NP_000242.1:p.(Tyr43IlefsTer21)	NC_000002.11:g.47630456del	(Likely) pathogenic	1 lab	fee45e8194
13:41381512 SLC25A15 C>T	13	41381512	41381512	C	T	SLC25A15	c.535C>T	NM_014252.3	NP_055067.1:p.(Arg179Ter)	NC_000013.10:g.41381512C>T	(Likely) pathogenic	1 lab	fee5f4156f
7:6043698 PMS2 T>C	7	6043698	6043698	T	C	PMS2	c.164-9A>G	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6043698T>C	(Likely) pathogenic	1 lab	feebc3e5bb
12:133198121 P2RX2 G>A	12	133198121	133198121	G	A	P2RX2	c.1057G>A	NM_170683.3	NP_733783.1:p.(Gly353Arg)	NC_000012.11:g.133198121G>A	VUS	1 lab	feec01a366
X:85218855 CHM C>A	X	85218855	85218855	C	A	CHM	c.517G>T	NM_000390.3	NP_000381.1:p.(Glu173Ter)	NC_000023.10:g.85218855C>A	(Likely) pathogenic	1 lab	feed9a650d
1:228474548 OBSCN G>A	1	228474548	228474548	G	A	OBSCN	c.9352G>A	NM_001098623.2	NP_001092093.2:p.(Glu3118Lys)	NC_000001.10:g.228474548G>A	(Likely) benign	1 lab	fef3bca440
5:149500570 PDGFRB C>T	5	149500570	149500570	C	T	PDGFRB	c.2467G>A	NM_002609.3	NP_002600.1:p.(Val823Ile)	NC_000005.9:g.149500570C>T	VUS	1 lab	fef3cda0f8
17:29562697 NF1 CAT>C	17	29562697	29562699	CAT	C	NF1	c.3778_3779del	NM_001042492.3	NP_001035957.1:p.(Met1260ValfsTer3)	NC_000017.10:g.29562698_29562699del	(Likely) pathogenic	1 lab	fef437280b
10:69959138 MYPN C>T	10	69959138	69959138	C	T	MYPN	c.3299C>T	NM_032578.4	NP_115967.2:p.(Pro1100Leu)	NC_000010.10:g.69959138C>T	VUS	1 lab	192c98c030
7:77797375 MAGI2 G>A	7	77797375	77797375	G	A	MAGI2	c.2454C>T	NM_012301.4	NP_036433.2:p.(Arg818=)	NC_000007.13:g.77797375G>A	(Likely) benign	1 lab	19acb1c2db
1:241680624 FH CAAGAA>C	1	241680624	241680629	CAAGAA	C	FH	c.133-13_133-9del	NM_000143.4	NP_000134.2:p.?	NC_000001.10:g.241680625_241680629del	(Likely) pathogenic	1 lab	fef6f78d1c
11:103068671 DYNC2H1 A>G	11	103068671	103068671	A	G	DYNC2H1	c.7718A>G	NM_001080463.1	NP_001073932.1:p.(Tyr2573Cys)	NC_000011.9:g.103068671A>G	VUS	1 lab	fef877d857
8:145740458 RECQL4 T>C	8	145740458	145740458	T	C	RECQL4	c.1484-2A>G	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145740458T>C	(Likely) pathogenic	1 lab	fefadea98d
11:119149280 CBL G>A	11	119149280	119149280	G	A	CBL	c.1288G>A	NM_005188.4	NP_005179.2:p.(Val430Met)	NC_000011.9:g.119149280G>A	VUS	1 lab	fefb4942ae
4:187130414 CYP4V2 A>G	4	187130414	187130414	A	G	CYP4V2	c.1393A>G	NM_207352.3	NP_997235.3:p.(Arg465Gly)	NC_000004.11:g.187130414A>G	(Likely) pathogenic	1 lab	fefd0b66d6
4:187516927 FAT1 G>C	4	187516927	187516927	G	C	FAT1	c.13054C>G	NM_005245.4	NP_005236.2:p.(Pro4352Ala)	NC_000004.11:g.187516927G>C	VUS	1 lab	fefe8c020f
17:59871075 BRIP1 G>A	17	59871075	59871075	G	A	BRIP1				NC_000017.10:g.59871075G>A	(Likely) benign	1 lab	fefff206bc
6:112469410 LAMA4 G>A	6	112469410	112469410	G	A	LAMA4	c.2302C>T	NM_001105206.2	NP_001098676.2:p.(His768Tyr)	NC_000006.11:g.112469410G>A	(Likely) benign	1 lab	ff0073171a
12:65633754 LEMD3 G>A	12	65633754	65633754	G	A	LEMD3	c.1967G>A	NM_014319.5	NP_055134.2:p.(Trp656Ter)	NC_000012.11:g.65633754G>A	(Likely) pathogenic	1 lab	192cfb9aab
2:29016804 PPP1CB G>A	2	29016804	29016804	G	A	PPP1CB	c.820G>A	NM_002709.2	NP_002700.1:p.(Glu274Lys)	NC_000002.11:g.29016804G>A	(Likely) pathogenic	1 lab	ff0a0255a5
12:79693168 SYT1 C>G	12	79693168	79693168	C	G	SYT1	c.647C>G	NM_001135805.1	NP_001129277.1:p.(Pro216Arg)	NC_000012.11:g.79693168C>G	VUS	1 lab	ff0e494427
2:179485267 TTN A>C	2	179485267	179485267	A	C	TTN	c.45981T>G	NM_001267550.2	NP_001254479.2:p.(Arg15327=)	NC_000002.11:g.179485267A>C	(Likely) benign	1 lab	ff0fa28622
2:179441158 TTN A>C	2	179441158	179441158	A	C	TTN	c.69716-15T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179441158A>C	(Likely) benign	1 lab	ff10b60774
14:102473383 DYNC1H1 C>T	14	102473383	102473383	C	T	DYNC1H1	c.5755C>T	NM_001376.4	NP_001367.2:p.(Leu1919Phe)	NC_000014.8:g.102473383C>T	(Likely) benign	1 lab	ff11beb9fd
3:38524086 ACVR2B G>A	3	38524086	38524086	G	A	ACVR2B	c.1344+35G>A	NM_001106.3	NP_001097.2:p.?	NC_000003.11:g.38524086G>A	(Likely) benign	1 lab	ff194e6e1f
16:23637817 PALB2 T>C	16	23637817	23637817	T	C	PALB2	c.2587-99A>G	NM_024675.3	NP_078951.2:p.?	NC_000016.9:g.23637817T>C	(Likely) benign	1 lab	ff20537b12
20:62319604 RTEL1 A>C	20	62319604	62319604	A	C	RTEL1	c.1709-50A>C	NM_032957.4	NP_116575.3:p.?	NC_000020.10:g.62319604A>C	(Likely) benign	1 lab	ff205a6778
2:223096922 PAX3 G>A	2	223096922	223096922	G	A	PAX3	c.667C>T	NM_181457.4	NP_852122.1:p.(Arg223Ter)	NC_000002.11:g.223096922G>A	(Likely) pathogenic	1 lab	ff21895295
7:83034754 SEMA3E T>A	7	83034754	83034754	T	A	SEMA3E	c.998+12A>T	NM_012431.3	NP_036563.1:p.?	NC_000007.13:g.83034754T>A	(Likely) benign	1 lab	1935928ff1
10:21141469 NEBL T>C	10	21141469	21141469	T	C	NEBL	c.1008+5A>G	NM_006393.3	NP_006384.1:p.?	NC_000010.10:g.21141469T>C	(Likely) benign	1 lab	193beadb4b
2:167060576 SCN9A T>C	2	167060576	167060576	T	C	SCN9A	c.4630A>G	NM_002977.3	NP_002968.1:p.(Ile1544Val)	NC_000002.11:g.167060576T>C	(Likely) benign	1 lab	ff301f20ff
3:37035043 MLH1 C>A	3	37035043	37035043	C	A	MLH1	c.5C>A	NM_000249.4	NP_000240.1:p.(Ser2Ter)	NC_000003.11:g.37035043C>A	(Likely) pathogenic	1 lab	ff310ef5a4
X:29938178 IL1RAPL1 C>T	X	29938178	29938178	C	T	IL1RAPL1	c.1024C>T	NM_014271.4	NP_055086.1:p.(Arg342Cys)	NC_000023.10:g.29938178C>T	(Likely) benign	1 lab	ff34cfbd90
8:140630920 KCNK9 C>T	8	140630920	140630920	C	T	KCNK9	c.706G>A	NM_001282534.1	NP_001269463.1:p.(Gly236Arg)	NC_000008.10:g.140630920C>T	VUS	1 lab	ff368db140
16:23646303 PALB2 G>A	16	23646303	23646303	G	A	PALB2	c.1564C>T	NM_024675.3	NP_078951.2:p.(Pro522Ser)	NC_000016.9:g.23646303G>A	(Likely) benign	1 lab	ff3be2c5f6
12:25378591 KRAS C>T	12	25378591	25378591	C	T	KRAS	c.407G>A	NM_004985.5	NP_004976.2:p.(Ser136Asn)	NC_000012.11:g.25378591C>T	VUS	1 lab	281a66185e
10:73544086 CDH23 G>A	10	73544086	73544086	G	A	CDH23	c.5411G>A	NM_022124.5	NP_071407.4:p.(Arg1804Gln)	NC_000010.10:g.73544086G>A	(Likely) benign	1 lab	ff3ce61995
2:179590507 TTN C>T	2	179590507	179590507	C	T	TTN				NC_000002.11:g.179590507C>T	(Likely) benign	1 lab	ff3d1acef2
2:50755780 NRXN1 C>T	2	50755780	50755780	C	T	NRXN1	c.2477G>A	NM_001135659.3	NP_001129131.1:p.(Arg826Lys)	NC_000002.11:g.50755780C>T	VUS	1 lab	193d386bd8
13:32914728 BRCA2 T>C	13	32914728	32914728	T	C	BRCA2	c.6236T>C	NM_000059.3	NP_000050.2:p.(Val2079Ala)	NC_000013.10:g.32914728T>C	VUS	1 lab	ff3d4df91b
X:24024366 KLHL15 C>T	X	24024366	24024366	C	T	KLHL15	c.445G>A	NM_030624.3	NP_085127.2:p.(Gly149Arg)	NC_000023.10:g.24024366C>T	VUS	1 lab	1942ca2b01
11:68157453 LRP5 A>G	11	68157453	68157453	A	G	LRP5	c.1517A>G	NM_002335.3	NP_002326.2:p.(Asn506Ser)	NC_000011.9:g.68157453A>G	VUS	1 lab	ff4259d2e9
10:26285435 MYO3A C>G	10	26285435	26285435	C	G	MYO3A	c.320C>G	NM_017433.4	NP_059129.3:p.(Ser107Ter)	NC_000010.10:g.26285435C>G	(Likely) pathogenic	1 lab	ff429ba64f
1:94528217 ABCA4 C>T	1	94528217	94528217	C	T	ABCA4	c.1853G>A	NM_000350.2	NP_000341.2:p.(Gly618Glu)	NC_000001.10:g.94528217C>T	(Likely) pathogenic	1 lab	ff44ba0f27
10:28872433 WAC CAGTA>C	10	28872433	28872441	CAGTA	C	WAC	c.381+4_381+7del	NM_016628.4	NP_057712.2:p.?	NC_000010.10:g.28872438_28872441del	(Likely) pathogenic	1 lab	ff44f3bc25
14:23884933 MYH7 A>G	14	23884933	23884933	A	G	MYH7	c.5062T>C	NM_000257.2	NP_000248.2:p.(Leu1688=)	NC_000014.8:g.23884933A>G	(Likely) benign	1 lab	ff49e80025
16:2546267 TBC1D24 C>T	16	2546267	2546267	C	T	TBC1D24	c.118C>T	NM_001199107.1	NP_001186036.1:p.(Arg40Cys)	NC_000016.9:g.2546267C>T	VUS	1 lab	ff5037875c
3:46899604 MYL3 G>C	3	46899604	46899604	G	C	MYL3	c.*14-13C>G	NM_000258.2	NP_000249.1:p.?	NC_000003.11:g.46899604G>C	(Likely) benign	1 lab	ff508706bc
1:247587254 NLRP3 G>A	1	247587254	247587254	G	A	NLRP3	c.503G>A	NM_001243133.2	NP_001230062.1:p.(Arg168Gln)	NC_000001.10:g.247587254G>A	VUS	1 lab	19b053347a
1:155450056 ASH1L G>A	1	155450056	155450056	G	A	ASH1L	c.2605C>T	NM_018489.3	NP_060959.2:p.(Gln869Ter)	NC_000001.10:g.155450056G>A	(Likely) pathogenic	1 lab	ff53a9047e
2:71163051 ATP6V1B1 C>T	2	71163051	71163051	C	T	ATP6V1B1	c.-34C>T	NM_001692.3	NP_001683.2:p.?	NC_000002.11:g.71163051C>T	(Likely) benign	1 lab	ff53cae47f
3:123010217 ADCY5 C>T	3	123010217	123010217	C	T	ADCY5	c.3070G>A	NM_183357.2	NP_899200.1:p.(Glu1024Lys)	NC_000003.11:g.123010217C>T	VUS	1 lab	ff55dd29f2
6:7862589 BMP6 C>T	6	7862589	7862589	C	T	BMP6	c.1062C>T	NM_001718.6	NP_001709.1:p.(Asp354=)	NC_000006.11:g.7862589C>T	(Likely) benign	1 lab	ff5862f312
21:47406567 COL6A1 G>C	21	47406567	47406567	G	C	COL6A1	c.556G>C	NM_001848.2	NP_001839.2:p.(Val186Leu)	NC_000021.8:g.47406567G>C	VUS	1 lab	ff58df41a5
9:126125318 CRB2 C>A	9	126125318	126125318	C	A	CRB2	c.269C>A	NM_173689.6	NP_775960.4:p.(Thr90Asn)	NC_000009.11:g.126125318C>A	(Likely) benign	1 lab	ff59c013f7
14:105185666 INF2 G>T	14	105185666	105185666	G	T	INF2	c.*536G>T	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105185666G>T	(Likely) benign	1 lab	ff5d27eda3
11:120998480 TECTA G>C	11	120998480	120998480	G	C	TECTA				NC_000011.9:g.120998480G>C	(Likely) benign	1 lab	ff5e186f94
15:48539546 SLC12A1 GACA>G	15	48539546	48539552	GACA	G	SLC12A1	c.1577_1579del	NM_000338.3	NP_000329.2:p.(Asn526del)	NC_000015.9:g.48539550_48539552del	(Likely) pathogenic	1 lab	ff612f7d39
16:2162887 PKD1 A>G	16	2162887	2162887	A	G	PKD1	c.3063T>C	NM_001009944.2	NP_001009944.2:p.(Gly1021=)	NC_000016.9:g.2162887A>G	(Likely) benign	1 lab	ff63cd244c
X:38186672 RPGR G>T	X	38186672	38186672	G	T	RPGR	c.-52C>A	NM_001034853.1	NP_001030025.1:p.?	NC_000023.10:g.38186672G>T	(Likely) benign	1 lab	ff648f38e5
11:47371665 MYBPC3 TG>T	11	47371665	47371666	TG	T	MYBPC3	c.407-3del	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47371666del	VUS	1 lab	ff65d1472e
3:37053316 MLH1 C>G	3	37053316	37053316	C	G	MLH1	c.551C>G	NM_000249.3	NP_000240.1:p.(Ser184Ter)	NC_000003.11:g.37053316C>G	(Likely) pathogenic	1 lab	ff66ba4d46
X:107909866 COL4A5 T>C	X	107909866	107909866	T	C	COL4A5	c.3553+42T>C	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107909866T>C	(Likely) benign	1 lab	ff692fb7a9
3:14173137 TMEM43 G>A	3	14173137	14173137	G	A	TMEM43	c.355G>A	NM_024334.2	NP_077310.1:p.(Val119Met)	NC_000003.11:g.14173137G>A	VUS	1 lab	ff6b8e3600
X:153172075 AVPR2 C>T	X	153172075	153172075	C	T	AVPR2	c.1009C>T	NM_000054.4	NP_000045.1:p.(Arg337Ter)	NC_000023.10:g.153172075C>T	(Likely) pathogenic	1 lab	ff6fda9925
19:39056187 RYR1 G>A	19	39056187	39056187	G	A	RYR1	c.13213G>A	NM_000540.2	NP_000531.2:p.(Gly4405Ser)	NC_000019.9:g.39056187G>A	(Likely) benign	1 lab	ff7109d48b
12:496439 KDM5A A>T	12	496439	496439	A	T	KDM5A	c.166-1299T>A	NM_001042603.3	NP_001036068.1:p.?	NC_000012.11:g.496439A>T	(Likely) benign	1 lab	1950fcf5e6
X:110964892 ALG13 A>G	X	110964892	110964892	A	G	ALG13	c.1388A>G	NM_001099922.3	NP_001093392.1:p.(Glu463Gly)	NC_000023.10:g.110964892A>G	VUS	1 lab	195449ed8a
11:118039455 SCN2B G>A	11	118039455	118039455	G	A	SCN2B	c.82C>T	NM_004588.4	NP_004579.1:p.(Arg28Trp)	NC_000011.9:g.118039455G>A	VUS	1 lab	ff793a7041
4:52895882 SGCB G>A	4	52895882	52895882	G	A	SGCB	c.391C>T	NM_000232.4	NP_000223.1:p.(Arg131Ter)	NC_000004.11:g.52895882G>A	(Likely) pathogenic	1 lab	ff7abc7cf4
3:154886352 MME C>T	3	154886352	154886352	C	T	MME	c.1852C>T	NM_007289.4	NP_009220.2:p.(Gln618Ter)	NC_000003.11:g.154886352C>T	VUS	1 lab	ff7c40b904
20:62065200 KCNQ2 C>T	20	62065200	62065200	C	T	KCNQ2	c.1080G>A	NM_172107.3	NP_742105.1:p.(Trp360Ter)	NC_000020.10:g.62065200C>T	(Likely) pathogenic	1 lab	ff7cbc5231
1:245018815 HNRNPU G>A	1	245018815	245018815	G	A	HNRNPU	c.2263C>T	NM_031844.2	NP_114032.2:p.(Arg755Cys)	NC_000001.10:g.245018815G>A	VUS	1 lab	ff7f066200
7:120591250 ING3 C>A	7	120591250	120591250	C	A	ING3	c.61C>A	NM_019071.2	NP_061944.2:p.(Arg21Ser)	NC_000007.13:g.120591250C>A	VUS	1 lab	ff7f3b2b78
19:9088447 MUC16 T>C	19	9088447	9088447	T	C	MUC16	c.3488A>G	NM_001401501.2	NP_001388430.1:p.(Asp1163Gly)	NC_000019.9:g.9088447T>C	(Likely) benign	1 lab	ff7f4cb97d
2:48026130 MSH6 T>C	2	48026130	48026130	T	C	MSH6	c.1008T>C	NM_000179.2	NP_000170.1:p.(Thr336=)	NC_000002.11:g.48026130T>C	(Likely) benign	1 lab	ff7fda415e
12:122757433 CLIP1 C>T	12	122757433	122757433	C	T	CLIP1	c.4273G>A	NM_002956.3	NP_002947.1:p.(Glu1425Lys)	NC_000012.11:g.122757433C>T	VUS	1 lab	195a403bba
2:227896652 COL4A4 C>G	2	227896652	227896652	C	G	COL4A4	c.3817+9G>C	NM_000092.4	NP_000083.3:p.?	NC_000002.11:g.227896652C>G	(Likely) benign	1 lab	ff8b9ee6e3
2:227915601 COL4A4 G>T	2	227915601	227915601	G	T	COL4A4	c.3150+92C>A	NM_000092.5	NP_000083.3:p.?	NC_000002.11:g.227915601G>T	(Likely) benign	1 lab	ff8bea530d
20:18523002 SEC23B C>G	20	18523002	18523002	C	G	SEC23B	c.1467C>G	NM_006363.4	NP_006354.2:p.(His489Gln)	NC_000020.10:g.18523002C>G	(Likely) benign	1 lab	ff8e5aac15
2:230724018 TRIP12 G>A	2	230724018	230724018	G	A	TRIP12				NC_000002.11:g.230724018G>A	VUS	1 lab	ff9585b7c2
3:64590023 ADAMTS9 GA>G	3	64590023	64590032	GA	G	ADAMTS9	c.3475-17del	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64590032del	(Likely) benign	1 lab	19b34bf71f
2:47635737 MSH2 G>T	2	47635737	47635737	G	T	MSH2	c.366+43G>T	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47635737G>T	(Likely) benign	1 lab	ff9822ff98
3:49162733 LAMB2 G>A	3	49162733	49162733	G	A	LAMB2	c.2673C>T	NM_002292.4	NP_002283.3:p.(Gly891=)	NC_000003.11:g.49162733G>A	(Likely) benign	1 lab	3536e3ab69
19:50826504 KCNC3 G>A	19	50826504	50826504	G	A	KCNC3	c.1706C>T	NM_004977.2	NP_004968.2:p.(Pro569Leu)	NC_000019.9:g.50826504G>A	VUS	1 lab	ff9fb00343
3:129247592 RHO G>A	3	129247592	129247592	G	A	RHO	c.16G>A	NM_000539.3	NP_000530.1:p.(Gly6Ser)	NC_000003.11:g.129247592G>A	VUS	1 lab	ffa01ab75e
16:31477851 ARMC5 C>T	16	31477851	31477851	C	T	ARMC5	c.2449C>T	NM_001105247.1	NP_001098717.1:p.(Leu817=)	NC_000016.9:g.31477851C>T	(Likely) benign	1 lab	ffa72758ed
12:6090983 VWF CCA>C	12	6090983	6090987	CCA	C	VWF	c.7254_7255del	NM_000552.3	NP_000543.2:p.(Cys2418TrpfsTer56)	NC_000012.11:g.6090986_6090987del	(Likely) pathogenic	1 lab	ffa7a1e22d
6:126080942 HEY2 T>G	6	126080942	126080942	T	G	HEY2	c.1008T>G	NM_012259.2	NP_036391.1:p.(Ala336=)	NC_000006.11:g.126080942T>G	(Likely) benign	1 lab	ffad29b654
19:1220466 STK11 G>A	19	1220466	1220466	G	A	STK11	c.559G>A	NM_000455.5	NP_000446.1:p.(Gly187Ser)	NC_000019.9:g.1220466G>A	VUS	1 lab	04d5cd2aa6
11:47354848 MYBPC3 T>TA	11	47354848	47354849	T	TA	MYBPC3	c.3226_3227insT	NM_000256.3	NP_000247.2:p.(Asp1076ValfsTer6)	NC_000011.9:g.47354848_47354849insA	(Likely) pathogenic	1 lab	195c3ab3c9
5:43655960 NNT G>A	5	43655960	43655960	G	A	NNT	c.2078G>A	NM_012343.3	NP_036475.3:p.(Arg693His)	NC_000005.9:g.43655960G>A	(Likely) benign	1 lab	ffaf263776
6:76599904 MYO6 A>C	6	76599904	76599904	A	C	MYO6	c.2789A>C	NM_004999.3	NP_004990.3:p.(Gln930Pro)	NC_000006.11:g.76599904A>C	VUS	1 lab	ffb2568a7a
2:233394854 CHRND G>A	2	233394854	233394854	G	A	CHRND	c.820+5G>A	NM_000751.3	NP_000742.1:p.?	NC_000002.11:g.233394854G>A	VUS	1 lab	ffb4240285
2:73651639 MISSING A>C	2	73651639	73651639	A	C	MISSING				NC_000002.11:g.73651639A>C	VUS	1 lab	ffb4d81c24
11:64522755 PYGM G>A	11	64522755	64522755	G	A	PYGM	c.845C>T	NM_005609.4	NP_005600.1:p.(Pro282Leu)	NC_000011.9:g.64522755G>A	VUS	1 lab	ffb4f64faa
17:10551879 MYH3 GGGA>G	17	10551879	10551886	GGGA	G	MYH3	c.727_729del	NM_002470.3	NP_002461.2:p.(Ser243del)	NC_000017.10:g.10551884_10551886del	(Likely) pathogenic	1 lab	ffb766c148
3:70008476 MITF C>T	3	70008476	70008476	C	T	MITF	c.763C>T	NM_000248.3	NP_000239.1:p.(Arg255Ter)	NC_000003.11:g.70008476C>T	(Likely) pathogenic	1 lab	ffb9458475
8:143957163 CYP11B1 C>G	8	143957163	143957163	C	G	CYP11B1	c.1086G>C	NM_000497.3	NP_000488.3:p.(Leu362=)	NC_000008.10:g.143957163C>G	(Likely) benign	1 lab	ffb9b8fa99
12:52145308 SCN8A A>G	12	52145308	52145308	A	G	SCN8A	c.2301A>G	NM_001330260.2	NP_001317189.1:p.(Thr767=)	NC_000012.11:g.52145308A>G	(Likely) benign	1 lab	ffbe4e0f16
9:27949112 LINGO2 CGGTCATGTACATAGG>C	9	27949112	27949131	CGGTCATGTACATAGG	C	LINGO2	c.1543_1557del	NM_001258282.1	NP_001245211.1:p.(Pro515_Thr519del)	NC_000009.11:g.27949117_27949131del	VUS	1 lab	ffbfaff5b4
16:50744969 NOD2 G>C	16	50744969	50744969	G	C	NOD2	c.1147G>C	NM_022162.2	NP_071445.1:p.(Glu383Gln)	NC_000016.9:g.50744969G>C	(Likely) pathogenic	1 lab	ffc03dd515
21:47410199 COL6A1 G>A	21	47410199	47410199	G	A	COL6A1	c.957+1G>A	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47410199G>A	(Likely) pathogenic	1 lab	ffc51002f3
13:23928866 SACS C>T	13	23928866	23928866	C	T	SACS	c.1885G>A	NM_014363.6	NP_055178.3:p.(Ala629Thr)	NC_000013.10:g.23928866C>T	VUS	1 lab	195d438385
12:2162764 CACNA1C G>A	12	2162764	2162764	G	A	CACNA1C	c.36G>A	NM_199460.2	NP_955630.2:p.(Glu12=)	NC_000012.11:g.2162764G>A	(Likely) benign	1 lab	ffc6955374
X:152991035 ABCD1 C>T	X	152991035	152991035	C	T	ABCD1	c.314C>T	NM_000033.3	NP_000024.2:p.(Thr105Ile)	NC_000023.10:g.152991035C>T	(Likely) pathogenic	1 lab	ffc7d34bb0
1:46655525 POMGNT1 C>T	1	46655525	46655525	C	T	POMGNT1	c.1785+1G>A	NM_017739.3	NP_060209.3:p.?	NC_000001.10:g.46655525C>T	(Likely) pathogenic	1 lab	ffcd5ae166
8:141570527 AGO2 C>A	8	141570527	141570527	C	A	AGO2	c.601G>T	NM_012154.3	NP_036286.2:p.(Gly201Cys)	NC_000008.10:g.141570527C>A	(Likely) pathogenic	1 lab	ffcd65ded7
5:145719270 POU4F3 AC>A	5	145719270	145719272	AC	A	POU4F3	c.282del	NM_002700.2	NP_002691.1:p.(Val95CysfsTer33)	NC_000005.9:g.145719272del	(Likely) pathogenic	1 lab	ffcdfdabcc
11:61729931 BEST1 C>T	11	61729931	61729931	C	T	BEST1	c.1305C>T	NM_004183.4	NP_004174.1:p.(Asn435=)	NC_000011.9:g.61729931C>T	(Likely) benign	1 lab	ffd13f76f3
20:33584163 MYH7B G>A	20	33584163	33584163	G	A	MYH7B	c.3084G>A	NM_020884.4	NP_065935.3:p.(Thr1028=)	NC_000020.10:g.33584163G>A	(Likely) benign	1 lab	ffdafd66fe
20:1961159 PDYN T>A	20	1961159	1961159	T	A	PDYN	c.575A>T	NM_024411.5	NP_077722.1:p.(Glu192Val)	NC_000020.10:g.1961159T>A	(Likely) benign	1 lab	dc37110f8c
17:48453303 EME1 C>A	17	48453303	48453303	C	A	EME1	c.734C>A	NM_152463.4	NP_689676.2:p.(Pro245Gln)	NC_000017.10:g.48453303C>A	VUS	1 lab	29454d2b55
10:89712017 PTEN G>A	10	89712017	89712017	G	A	PTEN	c.634+1G>A	NM_000314.4	NP_000305.3:p.?	NC_000010.10:g.89712017G>A	(Likely) pathogenic	1 lab	ffe5cb68c8
1:6529718 PLEKHG5 G>C	1	6529718	6529718	G	C	PLEKHG5	c.1819C>G	NM_020631.6	NP_065682.2:p.(Leu607Val)	NC_000001.10:g.6529718G>C	VUS	1 lab	ffe6475f10
11:76873344 MYO7A T>C	11	76873344	76873344	T	C	MYO7A	c.1522T>C	NM_000260.3	NP_000251.3:p.(Ser508Pro)	NC_000011.9:g.76873344T>C	(Likely) pathogenic	1 lab	ffe66f042c
12:22065828 ABCC9 T>C	12	22065828	22065828	T	C	ABCC9	c.989A>G	NM_020297.2	NP_064693.2:p.(Asn330Ser)	NC_000012.11:g.22065828T>C	(Likely) benign	1 lab	19bbbe5912
4:120108544 MYOZ2 T>G	4	120108544	120108544	T	G	MYOZ2	c.*1189T>G	NM_016599.4	NP_057683.1:p.?	NC_000004.11:g.120108544T>G	(Likely) benign	1 lab	ffeefe9a31
13:20763619 GJB2 C>T	13	20763619	20763619	C	T	GJB2	c.102G>A	NM_004004.5	NP_003995.2:p.(Met34Ile)	NC_000013.10:g.20763619C>T	(Likely) pathogenic	1 lab	fff3f74047
16:79245686 WWOX C>G	16	79245686	79245686	C	G	WWOX	c.1238C>G	NM_016373.4	NP_057457.1:p.(Ser413Cys)	NC_000016.9:g.79245686C>G	VUS	1 lab	195e356721
X:153416283 OPN1LW T>C	X	153416283	153416283	T	C	OPN1LW	c.268T>C	NM_020061.5	NP_064445.2:p.(Trp90Arg)	NC_000023.10:g.153416283T>C	VUS	1 lab	fff640618c
X:53247028 KDM5C C>A	X	53247028	53247028	C	A	KDM5C	c.472G>T	NM_004187.5	NP_004178.2:p.(Glu158Ter)	NC_000023.10:g.53247028C>A	(Likely) pathogenic	1 lab	fffc2e83c4
10:81063906 ZMIZ1 C>T	10	81063906	81063906	C	T	ZMIZ1	c.2260C>T	NM_020338.4	NP_065071.1:p.(Arg754Ter)	NC_000010.10:g.81063906C>T	(Likely) pathogenic	1 lab	fffd77dd64
18:11066139 PIEZO2 T>G	18	11066139	11066139	T	G	PIEZO2	c.147A>C	NM_001378183.1	NP_001365112.1:p.(Lys49Asn)	NC_000018.9:g.11066139T>G	(Likely) benign	1 lab	03157b0965
12:7086294 LPCAT3 AC>A	12	7086294	7086296	AC	A	LPCAT3	c.*12+1del	NM_005768.6	NP_005759.4:p.?	NC_000012.11:g.7086296del	(Likely) benign	1 lab	03192cbffa
17:79495562 FSCN2 C>T	17	79495562	79495562	C	T	FSCN2	c.5C>T	NM_012418.4	NP_036550.1:p.(Pro2Leu)	NC_000017.10:g.79495562C>T	VUS	1 lab	0319a96db3
3:52282197 PPM1M C>T	3	52282197	52282197	C	T	PPM1M	c.739C>T	NM_144641.4	NP_653242.3:p.(Arg247Trp)	NC_000003.11:g.52282197C>T	VUS	1 lab	031b17a8e8
6:31931339 SKIC2 A>G	6	31931339	31931339	A	G	SKIC2	c.1550+3A>G	NM_006929.5	NP_008860.4:p.?	NC_000006.11:g.31931339A>G	(Likely) benign	1 lab	031b7a7655
12:46287418 ARID2 A>C	12	46287418	46287418	A	C	ARID2	c.5277A>C	NM_152641.4	NP_689854.2:p.(Glu1759Asp)	NC_000012.11:g.46287418A>C	(Likely) benign	1 lab	031c064e44
X:150573389 VMA21 C>T	X	150573389	150573389	C	T	VMA21	c.165C>T	NM_001017980.4	NP_001017980.1:p.(Gly55=)	NC_000023.10:g.150573389C>T	VUS	1 lab	031d209864
11:118373556 KMT2A A>C	11	118373556	118373556	A	C	KMT2A	c.6949A>C	NM_001197104.2	NP_001184033.1:p.(Lys2317Gln)	NC_000011.9:g.118373556A>C	VUS	1 lab	031e17b53c
9:137591944 COL5A1 G>A	9	137591944	137591944	G	A	COL5A1	c.467G>A	NM_000093.5	NP_000084.3:p.(Arg156Gln)	NC_000009.11:g.137591944G>A	VUS	1 lab	0320c99e8d
14:54417051 BMP4 C>T	14	54417051	54417051	C	T	BMP4	c.926G>A	NM_001202.6	NP_001193.2:p.(Arg309Gln)	NC_000014.8:g.54417051C>T	(Likely) benign	1 lab	0321f6b5d0
15:89417693 ACAN G>A	15	89417693	89417693	G	A	ACAN	c.7688G>A	NM_001369268.1	NP_001356197.1:p.(Arg2563His)	NC_000015.9:g.89417693G>A	(Likely) benign	1 lab	0325570156
2:209218784 PIKFYVE C>T	2	209218784	209218784	C	T	PIKFYVE	c.6007C>T	NM_015040.4	NP_055855.2:p.(His2003Tyr)	NC_000002.11:g.209218784C>T	VUS	1 lab	032642f851
3:53262363 TKT T>A	3	53262363	53262363	T	A	TKT	c.1408A>T	NM_001064.4	NP_001055.1:p.(Ile470Phe)	NC_000003.11:g.53262363T>A	(Likely) benign	1 lab	032656934e
3:181430554 SOX2 G>A	3	181430554	181430554	G	A	SOX2	c.406G>A	NM_003106.4	NP_003097.1:p.(Gly136Ser)	NC_000003.11:g.181430554G>A	(Likely) benign	1 lab	032833e6d2
11:108121427 ATM G>T	11	108121427	108121427	G	T	ATM	c.1236-1G>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108121427G>T	(Likely) benign	1 lab	032ae9761b
12:115112430 TBX3 T>C	12	115112430	115112430	T	C	TBX3	c.1250A>G	NM_005996.4	NP_005987.3:p.(His417Arg)	NC_000012.11:g.115112430T>C	(Likely) benign	1 lab	032bf7f6eb
9:101156477 GABBR2 T>C	9	101156477	101156477	T	C	GABBR2	c.1358A>G	NM_005458.8	NP_005449.5:p.(Asn453Ser)	NC_000009.11:g.101156477T>C	(Likely) benign	1 lab	032d7f0985
12:122265769 SETD1B C>T	12	122265769	122265769	C	T	SETD1B	c.5589+9C>T	NM_001353345.2	NP_001340274.1:p.?	NC_000012.11:g.122265769C>T	(Likely) benign	1 lab	032e9c50ce
6:33146131 COL11A2 TGGA>T	6	33146131	33146143	TGGA	T	COL11A2	c.1774-5_1774-3del	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33146141_33146143del	(Likely) benign	1 lab	032eb2e9fb
2:55573310 CCDC88A C>T	2	55573310	55573310	C	T	CCDC88A	c.1041+1G>A	NM_001365480.1	NP_001352409.1:p.?	NC_000002.11:g.55573310C>T	VUS	1 lab	032edb5202
7:131853327 PLXNA4 G>A	7	131853327	131853327	G	A	PLXNA4	c.4022C>T	NM_020911.2	NP_065962.1:p.(Pro1341Leu)	NC_000007.13:g.131853327G>A	VUS	1 lab	03301f808c
2:179397262 TTN A>G	2	179397262	179397262	A	G	TTN	c.104080T>C	NM_001267550.2	NP_001254479.2:p.(Ser34694Pro)	NC_000002.11:g.179397262A>G	VUS	1 lab	033319f4e1
9:16738364 BNC2 T>A	9	16738364	16738364	T	A	BNC2	c.123A>T	NM_017637.6	NP_060107.3:p.(Gln41His)	NC_000009.11:g.16738364T>A	(Likely) benign	1 lab	03336f4814
2:220285049 DES T>C	2	220285049	220285049	T	C	DES	c.716T>C	NM_001927.4	NP_001918.3:p.(Leu239Pro)	NC_000002.11:g.220285049T>C	VUS	1 lab	1960bcabc7
X:53440218 SMC1A C>T	X	53440218	53440218	C	T	SMC1A	c.579G>A	NM_006306.4	NP_006297.2:p.(Ala193=)	NC_000023.10:g.53440218C>T	(Likely) benign	1 lab	0335c15104
3:69047272 EOGT T>G	3	69047272	69047272	T	G	EOGT	c.728-7A>C	NM_001278689.2	NP_001265618.1:p.?	NC_000003.11:g.69047272T>G	(Likely) benign	1 lab	0336853da5
2:86276085 POLR1A G>A	2	86276085	86276085	G	A	POLR1A	c.2556C>T	NM_015425.6	NP_056240.2:p.(Gly852=)	NC_000002.11:g.86276085G>A	VUS	1 lab	0337269eeb
17:40631000 ATP6V0A1 C>T	17	40631000	40631000	C	T	ATP6V0A1	c.633+393C>T	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40631000C>T	VUS	1 lab	033914b2c1
1:114438092 AP4B1 G>T	1	114438092	114438092	G	T	AP4B1	c.1815C>A	NM_001253852.3	NP_001240781.1:p.(Asn605Lys)	NC_000001.10:g.114438092G>T	VUS	1 lab	033936c788
X:71822127 PHKA1 T>C	X	71822127	71822127	T	C	PHKA1	c.2918-4A>G	NM_002637.4	NP_002628.2:p.?	NC_000023.10:g.71822127T>C	(Likely) benign	1 lab	0339403090
8:17813054 PCM1 A>G	8	17813054	17813054	A	G	PCM1	c.1364A>G	NM_006197.4	NP_006188.4:p.(Asn455Ser)	NC_000008.10:g.17813054A>G	(Likely) benign	1 lab	19bf06aca4
5:132229114 AFF4 T>C	5	132229114	132229114	T	C	AFF4	c.2308-304A>G	NM_014423.4	NP_055238.1:p.?	NC_000005.9:g.132229114T>C	(Likely) benign	1 lab	0339ce4d3f
4:114294570 ANK2 C>T	4	114294570	114294570	C	T	ANK2	c.11824C>T	NM_001148.6	NP_001139.3:p.(Arg3942Cys)	NC_000004.11:g.114294570C>T	VUS	1 lab	033a530698
3:52438527 BAP1 C>T	3	52438527	52438527	C	T	BAP1	c.1192G>A	NM_004656.4	NP_004647.1:p.(Glu398Lys)	NC_000003.11:g.52438527C>T	VUS	1 lab	033a7d9c76
17:60106569 MED13 A>G	17	60106569	60106569	A	G	MED13	c.1283+333T>C	NM_005121.3	NP_005112.2:p.?	NC_000017.10:g.60106569A>G	(Likely) benign	1 lab	033edc47c7
4:5785303 EVC A>G	4	5785303	5785303	A	G	EVC	c.1588A>G	NM_153717.3	NP_714928.1:p.(Thr530Ala)	NC_000004.11:g.5785303A>G	(Likely) benign	1 lab	033f30953d
8:144998232 PLEC C>T	8	144998232	144998232	C	T	PLEC	c.5865G>A	NM_201384.3	NP_958786.1:p.(Ala1955=)	NC_000008.10:g.144998232C>T	(Likely) benign	1 lab	0340e512e5
8:144523193 ZC3H3 C>T	8	144523193	144523193	C	T	ZC3H3	c.2405G>A	NM_015117.3	NP_055932.2:p.(Arg802His)	NC_000008.10:g.144523193C>T	VUS	1 lab	03419064b3
9:131418941 DYNC2I2 G>A	9	131418941	131418941	G	A	DYNC2I2	c.65C>T	NM_052844.4	NP_443076.2:p.(Ala22Val)	NC_000009.11:g.131418941G>A	(Likely) benign	1 lab	0341c61eab
19:49244660 IZUMO1 G>T	19	49244660	49244660	G	T	IZUMO1	c.830C>A	NM_182575.3	NP_872381.2:p.(Ser277Tyr)	NC_000019.9:g.49244660G>T	VUS	1 lab	0341d8cb18
15:62456774 C2CD4B T>C	15	62456774	62456774	T	C	C2CD4B	c.410A>G	NM_001007595.3	NP_001007596.2:p.(Asp137Gly)	NC_000015.9:g.62456774T>C	(Likely) benign	1 lab	0344b93f15
2:178307191 AGPS A>G	2	178307191	178307191	A	G	AGPS	c.766A>G	NM_003659.4	NP_003650.1:p.(Ile256Val)	NC_000002.11:g.178307191A>G	VUS	1 lab	0347c2dda1
1:989847 AGRN C>T	1	989847	989847	C	T	AGRN	c.5896C>T	NM_198576.4	NP_940978.2:p.(Leu1966=)	NC_000001.10:g.989847C>T	(Likely) benign	1 lab	0347e3c357
19:50100287 PRR12 G>A	19	50100287	50100287	G	A	PRR12	c.2695G>A	NM_020719.3	NP_065770.1:p.(Val899Ile)	NC_000019.9:g.50100287G>A	(Likely) benign	1 lab	03483e11b9
11:66457571 SPTBN2 G>A	11	66457571	66457571	G	A	SPTBN2	c.5749C>T	NM_006946.4	NP_008877.2:p.(Arg1917Trp)	NC_000011.9:g.66457571G>A	VUS	1 lab	034a0ce990
14:68256237 ZFYVE26 T>A	14	68256237	68256237	T	A	ZFYVE26	c.2834A>T	NM_015346.4	NP_056161.2:p.(Glu945Val)	NC_000014.8:g.68256237T>A	VUS	1 lab	034b553d3d
6:42196352 TRERF1 CCTG>C	6	42196352	42196359	CCTG	C	TRERF1	c.3367_3369del	NM_001395490.1	NP_001382419.1:p.(Gln1123del)	NC_000006.11:g.42196357_42196359del	VUS	1 lab	034ccddb2b
16:3640482 SLX4 C>A	16	3640482	3640482	C	A	SLX4	c.3157G>T	NM_032444.4	NP_115820.2:p.(Gly1053Trp)	NC_000016.9:g.3640482C>A	(Likely) benign	1 lab	034f5dd61d
5:134364801 PITX1 T>G	5	134364801	134364801	T	G	PITX1	c.613A>C	NM_002653.5	NP_002644.4:p.(Met205Leu)	NC_000005.9:g.134364801T>G	(Likely) benign	1 lab	035127e6f2
11:62383252 B3GAT3 C>G	11	62383252	62383252	C	G	B3GAT3	c.929G>C	NM_012200.4	NP_036332.2:p.(Arg310Pro)	NC_000011.9:g.62383252C>G	VUS	1 lab	03522549e4
2:109546698 EDAR C>T	2	109546698	109546698	C	T	EDAR	c.52G>A	NM_022336.4	NP_071731.1:p.(Val18Met)	NC_000002.11:g.109546698C>T	VUS	1 lab	0354de239c
9:131218531 ODF2 C>T	9	131218531	131218531	C	T	ODF2	c.161C>T	NM_001351578.2	NP_001338507.1:p.(Ser54Phe)	NC_000009.11:g.131218531C>T	VUS	1 lab	03555f3de1
11:64480633 NRXN2 G>T	11	64480633	64480633	G	T	NRXN2	c.539C>A	NM_015080.4	NP_055895.1:p.(Ala180Asp)	NC_000011.9:g.64480633G>T	(Likely) benign	1 lab	035575d2e3
2:97378874 LMAN2L G>A	2	97378874	97378874	G	A	LMAN2L	c.508-1112C>T	NM_030805.4	NP_110432.1:p.?	NC_000002.11:g.97378874G>A	(Likely) benign	1 lab	0355b75834
1:150484898 ECM1 G>A	1	150484898	150484898	G	A	ECM1	c.1154G>A	NM_004425.4	NP_004416.2:p.(Arg385His)	NC_000001.10:g.150484898G>A	VUS	1 lab	03578d2ffb
2:204736215 CTLA4 G>T	2	204736215	204736215	G	T	CTLA4	c.567+5G>T	NM_005214.5	NP_005205.2:p.?	NC_000002.11:g.204736215G>T	(Likely) pathogenic	1 lab	19c98a0508
18:29867973 GAREM1 G>A	18	29867973	29867973	G	A	GAREM1	c.587C>T	NM_001242409.2	NP_001229338.1:p.(Pro196Leu)	NC_000018.9:g.29867973G>A	VUS	1 lab	03645509f7
2:179315140 PRKRA T>TGAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACG	2	179315140	179315142	T	TGAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACG	PRKRA	c.66-3_66-2insCGTCCCTTCTCGCCCTGTCCCAGAGCAGGCACCGCCGAGGCCCCGCCGCTGGAGCGCGAGGACAGTGGGACCTTC	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179315141_179315142insAAGGTCCCACTGTCCTCGCGCTCCAGCGGCGGGGCCTCGGCGGTGCCTGCTCTGGGACAGGGCGAGAAGGGACGG	(Likely) benign	1 lab	0357a87d7c
12:112139981 ACAD10 A>G	12	112139981	112139981	A	G	ACAD10	c.203A>G	NM_025247.6	NP_079523.3:p.(Asn68Ser)	NC_000012.11:g.112139981A>G	VUS	1 lab	03590668a5
12:2797655 CACNA1C C>T	12	2797655	2797655	C	T	CACNA1C	c.5827C>T	NM_000719.7	NP_000710.5:p.(His1943Tyr)	NC_000012.11:g.2797655C>T	VUS	1 lab	0359fb860e
3:157823713 SHOX2 A>C	3	157823713	157823713	A	C	SHOX2	c.101T>G	NM_001163678.2	NP_001157150.1:p.(Leu34Arg)	NC_000003.11:g.157823713A>C	VUS	1 lab	035bd76eef
6:108366005 OSTM1 T>C	6	108366005	108366005	T	C	OSTM1	c.989A>G	NM_014028.4	NP_054747.2:p.(Gln330Arg)	NC_000006.11:g.108366005T>C	VUS	1 lab	035c60e47c
7:131196077 PODXL G>A	7	131196077	131196077	G	A	PODXL	c.216C>T	NM_005397.4	NP_005388.2:p.(Asn72=)	NC_000007.13:g.131196077G>A	(Likely) benign	1 lab	19bfbeab1b
2:135883827 RAB3GAP1 T>G	2	135883827	135883827	T	G	RAB3GAP1	c.899+8T>G	NM_012233.3	NP_036365.1:p.?	NC_000002.11:g.135883827T>G	VUS	1 lab	035ee00183
14:105618300 JAG2 G>C	14	105618300	105618300	G	C	JAG2	c.1014C>G	NM_002226.5	NP_002217.3:p.(Gly338=)	NC_000014.8:g.105618300G>C	VUS	1 lab	035f4a972f
4:123167424 BLTP1 G>A	4	123167424	123167424	G	A	BLTP1	c.5155G>A	NM_001384125.1	NP_001371054.1:p.(Gly1719Ser)	NC_000004.11:g.123167424G>A	VUS	1 lab	03601115b7
15:99467738 IGF1R T>C	15	99467738	99467738	T	C	IGF1R	c.2623-16T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99467738T>C	(Likely) benign	1 lab	03605b35e9
12:57566995 LRP1 C>T	12	57566995	57566995	C	T	LRP1	c.3208C>T	NM_002332.3	NP_002323.2:p.(Arg1070Trp)	NC_000012.11:g.57566995C>T	VUS	1 lab	0360932d74
15:48787385 FBN1 A>C	15	48787385	48787385	A	C	FBN1	c.2612T>G	NM_000138.4	NP_000129.3:p.(Leu871Ter)	NC_000015.9:g.48787385A>C	(Likely) pathogenic	1 lab	19c57dd8b2
15:42132791 PLA2G4B C>T	15	42132791	42132791	C	T	PLA2G4B	c.152C>T	NM_001114633.2	NP_001108105.1:p.(Thr51Met)	NC_000015.9:g.42132791C>T	VUS	1 lab	0362da347e
12:116418658 MED13L A>G	12	116418658	116418658	A	G	MED13L	c.5261T>C	NM_015335.5	NP_056150.1:p.(Val1754Ala)	NC_000012.11:g.116418658A>G	(Likely) benign	1 lab	03659e07df
14:91875074 CCDC88C C>T	14	91875074	91875074	C	T	CCDC88C	c.199G>A	NM_001080414.4	NP_001073883.2:p.(Val67Ile)	NC_000014.8:g.91875074C>T	(Likely) benign	1 lab	0365ca9c69
20:43252941 ADA T>C	20	43252941	43252941	T	C	ADA	c.508A>G	NM_000022.4	NP_000013.2:p.(Lys170Glu)	NC_000020.10:g.43252941T>C	VUS	1 lab	036669954e
X:27766846 DCAF8L2 T>C	X	27766846	27766846	T	C	DCAF8L2	c.1834T>C	NM_001353450.2	NP_001340379.1:p.(Ser612Pro)	NC_000023.10:g.27766846T>C	VUS	1 lab	0366801b6b
7:45145217 TBRG4 G>C	7	45145217	45145217	G	C	TBRG4	c.558C>G	NM_004749.4	NP_004740.2:p.(Phe186Leu)	NC_000007.13:g.45145217G>C	(Likely) benign	1 lab	03669d2185
8:72981276 TRPA1 C>A	8	72981276	72981276	C	A	TRPA1	c.426G>T	NM_007332.3	NP_015628.2:p.(Met142Ile)	NC_000008.10:g.72981276C>A	(Likely) benign	1 lab	0367e2a88f
5:139494338 PURA C>T	5	139494338	139494338	C	T	PURA	c.572C>T	NM_005859.5	NP_005850.1:p.(Pro191Leu)	NC_000005.9:g.139494338C>T	VUS	1 lab	036add01af
12:39716603 KIF21A C>T	12	39716603	39716603	C	T	KIF21A	c.3538G>A	NM_001173464.2	NP_001166935.1:p.(Ala1180Thr)	NC_000012.11:g.39716603C>T	VUS	1 lab	036c29b755
22:51123008 SHANK3 C>T	22	51123008	51123008	C	T	SHANK3	c.1189-5C>T	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51123008C>T	(Likely) benign	1 lab	036c53fcb7
11:76804840 CAPN5 G>A	11	76804840	76804840	G	A	CAPN5	c.278G>A	NM_004055.5	NP_004046.2:p.(Arg93Gln)	NC_000011.9:g.76804840G>A	(Likely) benign	1 lab	036cce977e
19:11532434 ODAD3 C>T	19	11532434	11532434	C	T	ODAD3	c.1501G>A	NM_145045.5	NP_659482.3:p.(Gly501Ser)	NC_000019.9:g.11532434C>T	(Likely) benign	1 lab	036ce510c0
20:61981055 CHRNA4 C>G	20	61981055	61981055	C	G	CHRNA4	c.1708G>C	NM_000744.7	NP_000735.1:p.(Gly570Arg)	NC_000020.10:g.61981055C>G	VUS	1 lab	036d81fad3
X:134483128 ZNF449 G>T	X	134483128	134483128	G	T	ZNF449	c.448G>T	NM_152695.6	NP_689908.3:p.(Val150Leu)	NC_000023.10:g.134483128G>T	VUS	1 lab	036e53f6e3
11:119142441 CBL G>A	11	119142441	119142441	G	A	CBL	c.444-4G>A	NM_005188.4	NP_005179.2:p.?	NC_000011.9:g.119142441G>A	(Likely) benign	1 lab	036e9b6239
22:50964760 TYMP T>C	22	50964760	50964760	T	C	TYMP	c.1074A>G	NM_001953.5	NP_001944.1:p.(Arg358=)	NC_000022.10:g.50964760T>C	(Likely) benign	1 lab	036fa0aea7
1:247921099 OR1C1 C>T	1	247921099	247921099	C	T	OR1C1	c.610G>A	NM_012353.3	NP_036485.2:p.(Gly204Ser)	NC_000001.10:g.247921099C>T	VUS	1 lab	0373d31e97
10:126107434 OAT G>A	10	126107434	126107434	G	A	OAT	c.-30+8C>T	NM_000274.4	NP_000265.1:p.?	NC_000010.10:g.126107434G>A	(Likely) benign	1 lab	0374f50945
1:22204671 HSPG2 A>C	1	22204671	22204671	A	C	HSPG2	c.2685+8T>G	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22204671A>C	(Likely) benign	1 lab	03758deac9
11:64679848 ATG2A C>G	11	64679848	64679848	C	G	ATG2A	c.873G>C	NM_015104.3	NP_055919.2:p.(Pro291=)	NC_000011.9:g.64679848C>G	(Likely) benign	1 lab	0377905d45
12:116446488 MED13L G>C	12	116446488	116446488	G	C	MED13L	c.1730C>G	NM_015335.5	NP_056150.1:p.(Pro577Arg)	NC_000012.11:g.116446488G>C	VUS	1 lab	0379e1ebb3
1:118624124 SPAG17 G>A	1	118624124	118624124	G	A	SPAG17	c.1904C>T	NM_206996.4	NP_996879.1:p.(Pro635Leu)	NC_000001.10:g.118624124G>A	(Likely) benign	1 lab	037a57a634
19:1051006 ABCA7 G>A	19	1051006	1051006	G	A	ABCA7	c.2639G>A	NM_019112.4	NP_061985.2:p.(Arg880Gln)	NC_000019.9:g.1051006G>A	VUS	1 lab	037aae178a
16:11505128 MISSING G>C	16	11505128	11505128	G	C	MISSING				NC_000016.9:g.11505128G>C	VUS	1 lab	037ad28c5d
1:223178644 DISP1 C>T	1	223178644	223178644	C	T	DISP1	c.3905C>T	NM_001377229.1	NP_001364158.1:p.(Thr1302Ile)	NC_000001.10:g.223178644C>T	VUS	1 lab	037bf51706
4:88957413 PKD2 CG>C	4	88957413	88957415	CG	C	PKD2	c.753del	NM_000297.4	NP_000288.1:p.(Met252Ter)	NC_000004.11:g.88957415del	(Likely) pathogenic	1 lab	037d0265b1
4:1806162 FGFR3 C>T	4	1806162	1806162	C	T	FGFR3	c.1181C>T	NM_000142.5	NP_000133.1:p.(Thr394Met)	NC_000004.11:g.1806162C>T	(Likely) benign	1 lab	037d55fffd
15:42701495 CAPN3 C>G	15	42701495	42701495	C	G	CAPN3	c.1915-6C>G	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42701495C>G	(Likely) benign	1 lab	037daa333f
1:145541837 ITGA10 C>T	1	145541837	145541837	C	T	ITGA10	c.3360C>T	NM_003637.5	NP_003628.2:p.(Leu1120=)	NC_000001.10:g.145541837C>T	VUS	1 lab	0381642625
15:99460060 IGF1R G>A	15	99460060	99460060	G	A	IGF1R	c.2156G>A	NM_000875.5	NP_000866.1:p.(Arg719His)	NC_000015.9:g.99460060G>A	VUS	1 lab	0381f159c8
1:22183825 HSPG2 C>A	1	22183825	22183825	C	A	HSPG2	c.5347G>T	NM_005529.7	NP_005520.4:p.(Val1783Leu)	NC_000001.10:g.22183825C>A	VUS	1 lab	0382710176
18:74592196 ZNF236 C>T	18	74592196	74592196	C	T	ZNF236	c.1112C>T	NM_001306089.2	NP_001293018.1:p.(Pro371Leu)	NC_000018.9:g.74592196C>T	(Likely) benign	1 lab	03834460e2
11:47369412 MYBPC3 G>A	11	47369412	47369412	G	A	MYBPC3	c.817C>T	NM_000256.3	NP_000247.2:p.(Arg273Cys)	NC_000011.9:g.47369412G>A	VUS	1 lab	0383f03b17
17:61392030 TANC2 C>T	17	61392030	61392030	C	T	TANC2	c.1441C>T	NM_001394998.1	NP_001381927.1:p.(His481Tyr)	NC_000017.10:g.61392030C>T	VUS	1 lab	0384320463
X:8763309 FAM9A GCTGCTGCTGCTGCGGCTT>G	X	8763309	8763358	GCTGCTGCTGCTGCGGCTT	G	FAM9A	c.623_640del	NM_174951.3	NP_777611.1:p.(Glu208_Ala213del)	NC_000023.10:g.8763341_8763358del	(Likely) benign	1 lab	0385b4452a
7:151859777 KMT2C T>C	7	151859777	151859777	T	C	KMT2C	c.10885A>G	NM_170606.3	NP_733751.2:p.(Ile3629Val)	NC_000007.13:g.151859777T>C	(Likely) benign	1 lab	0386f918ae
1:8418372 RERE G>A	1	8418372	8418372	G	A	RERE	c.4223C>T	NM_001042681.2	NP_001036146.1:p.(Ser1408Leu)	NC_000001.10:g.8418372G>A	VUS	1 lab	0388c8a5e9
8:22064960 BMP1 C>T	8	22064960	22064960	C	T	BMP1	c.2506C>T	NM_006129.5	NP_006120.1:p.(Arg836Cys)	NC_000008.10:g.22064960C>T	VUS	1 lab	038bbb2aed
22:41546030 EP300 C>G	22	41546030	41546030	C	G	EP300	c.2645C>G	NM_001429.4	NP_001420.2:p.(Pro882Arg)	NC_000022.10:g.41546030C>G	(Likely) benign	1 lab	038c4a83c5
4:55570016 KIT ACTTTTGGAT>A	4	55570016	55570026	ACTTTTGGAT	A	KIT	c.885_893del	NM_000222.3	NP_000213.1:p.(Phe296_Ser298del)	NC_000004.11:g.55570018_55570026del	VUS	1 lab	038c833bec
21:47531966 COL6A2 G>A	21	47531966	47531966	G	A	COL6A2	c.189G>A	NM_001849.4	NP_001840.3:p.(Thr63=)	NC_000021.8:g.47531966G>A	(Likely) benign	1 lab	038cf4254e
11:17426227 ABCC8 C>T	11	17426227	17426227	C	T	ABCC8	c.3400-11G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17426227C>T	(Likely) benign	1 lab	038d4378da
2:45233332 SIX2 T>G	2	45233332	45233332	T	G	SIX2	c.853A>C	NM_016932.5	NP_058628.3:p.(Asn285His)	NC_000002.11:g.45233332T>G	VUS	1 lab	038e316952
13:31860961 B3GLCT G>C	13	31860961	31860961	G	C	B3GLCT	c.1064+5G>C	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31860961G>C	VUS	1 lab	039051cc0f
X:100093318 CSTF2 G>A	X	100093318	100093318	G	A	CSTF2	c.1702G>A	NM_001325.3	NP_001316.1:p.(Glu568Lys)	NC_000023.10:g.100093318G>A	VUS	1 lab	0391d89e1e
X:83116204 CYLC1 G>C	X	83116204	83116204	G	C	CYLC1	c.14G>C	NM_021118.3	NP_066941.1:p.(Arg5Thr)	NC_000023.10:g.83116204G>C	(Likely) benign	1 lab	0391df2b38
16:2154536 PKD1 C>T	16	2154536	2154536	C	T	PKD1	c.8124G>A	NM_001009944.3	NP_001009944.3:p.(Thr2708=)	NC_000016.9:g.2154536C>T	(Likely) benign	1 lab	03932e9eda
20:53266995 DOK5 C>T	20	53266995	53266995	C	T	DOK5	c.898C>T	NM_018431.5	NP_060901.2:p.(Pro300Ser)	NC_000020.10:g.53266995C>T	VUS	1 lab	0393edb3b8
2:230662396 TRIP12 G>T	2	230662396	230662396	G	T	TRIP12	c.3624+10C>A	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230662396G>T	(Likely) benign	1 lab	03945350c9
3:25639941 TOP2B C>G	3	25639941	25639941	C	G	TOP2B	c.4738G>C	NM_001330700.2	NP_001317629.1:p.(Asp1580His)	NC_000003.11:g.25639941C>G	VUS	1 lab	0394f93af0
11:58920766 FAM111A G>A	11	58920766	58920766	G	A	FAM111A	c.1625G>A	NM_001312909.2	NP_001299838.1:p.(Gly542Asp)	NC_000011.9:g.58920766G>A	(Likely) benign	1 lab	0395e56a77
11:57157431 PRG2 T>C	11	57157431	57157431	T	C	PRG2	c.-12-2A>G	NM_002728.6	NP_002719.3:p.?	NC_000011.9:g.57157431T>C	VUS	1 lab	03b8d51f06
X:118774687 SEPTIN6 C>T	X	118774687	118774687	C	T	SEPTIN6	c.755G>A	NM_145799.4	NP_665798.1:p.(Arg252Lys)	NC_000023.10:g.118774687C>T	VUS	1 lab	0399f9b34d
1:23655133 HNRNPR C>T	1	23655133	23655133	C	T	HNRNPR	c.498+4878G>A	NM_005826.5	NP_005817.1:p.?	NC_000001.10:g.23655133C>T	(Likely) benign	1 lab	039aeb7b56
3:38521302 ACVR2B C>T	3	38521302	38521302	C	T	ACVR2B	c.944C>T	NM_001106.4	NP_001097.2:p.(Pro315Leu)	NC_000003.11:g.38521302C>T	VUS	1 lab	039aee7981
2:227872987 COL4A4 G>C	2	227872987	227872987	G	C	COL4A4	c.4556C>G	NM_000092.5	NP_000083.3:p.(Thr1519Arg)	NC_000002.11:g.227872987G>C	VUS	1 lab	039af71b2c
16:53289678 CHD9 C>T	16	53289678	53289678	C	T	CHD9	c.4196C>T	NM_001308319.2	NP_001295248.1:p.(Ser1399Leu)	NC_000016.9:g.53289678C>T	VUS	1 lab	039bc6f2df
2:55561328 CCDC88A T>C	2	55561328	55561328	T	C	CCDC88A	c.2629A>G	NM_001365480.1	NP_001352409.1:p.(Lys877Glu)	NC_000002.11:g.55561328T>C	VUS	1 lab	039c67ad91
4:55161391 PDGFRA T>C	4	55161391	55161391	T	C	PDGFRA	c.3222T>C	NM_006206.6	NP_006197.1:p.(Asp1074=)	NC_000004.11:g.55161391T>C	(Likely) benign	1 lab	1961577bbb
3:81719973 GBE1 G>A	3	81719973	81719973	G	A	GBE1	c.429+16C>T	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81719973G>A	(Likely) benign	1 lab	03a2383a63
22:25436805 KIAA1671 G>T	22	25436805	25436805	G	T	KIAA1671	c.3708G>T	NM_001145206.2	NP_001138678.1:p.(Arg1236Ser)	NC_000022.10:g.25436805G>T	VUS	1 lab	03a44ece6b
11:86663061 FZD4 G>A	11	86663061	86663061	G	A	FZD4	c.737C>T	NM_012193.4	NP_036325.2:p.(Ser246Phe)	NC_000011.9:g.86663061G>A	VUS	1 lab	03a5233df5
5:149514508 PDGFRB T>C	5	149514508	149514508	T	C	PDGFRB	c.436A>G	NM_002609.4	NP_002600.1:p.(Thr146Ala)	NC_000005.9:g.149514508T>C	VUS	1 lab	03a749715f
X:48815936 MISSING G>T	X	48815936	48815936	G	T	MISSING				NC_000023.10:g.48815936G>T	(Likely) benign	1 lab	03a82a9b99
12:7053032 C12orf57 G>T	12	7053032	7053032	G	T	C12orf57	n.53G>T	NR_126035.1		NC_000012.11:g.7053032G>T	(Likely) benign	1 lab	e1fa4b64d6
19:2939267 ZNF77 CACCACCCTTACCCAAGGAGGCA>C	19	2939267	2939290	CACCACCCTTACCCAAGGAGGCA	C	ZNF77	c.120_130+11del	NM_021217.3	NP_067040.1:p.?	NC_000019.9:g.2939269_2939290del	(Likely) benign	1 lab	03a87895f6
15:42602621 GANC C>T	15	42602621	42602621	C	T	GANC	c.863C>T	NM_198141.3	NP_937784.2:p.(Ser288Leu)	NC_000015.9:g.42602621C>T	(Likely) benign	1 lab	03aa81f1dd
8:99153060 POP1 G>A	8	99153060	99153060	G	A	POP1	c.1538G>A	NM_001145860.2	NP_001139332.1:p.(Arg513Gln)	NC_000008.10:g.99153060G>A	VUS	1 lab	03adbcb9b7
16:3823801 CREBBP G>A	16	3823801	3823801	G	A	CREBBP	c.2414C>T	NM_004380.3	NP_004371.2:p.(Ala805Val)	NC_000016.9:g.3823801G>A	VUS	1 lab	03ae28e974
22:28193272 MN1 C>T	22	28193272	28193272	C	T	MN1	c.3260G>A	NM_002430.3	NP_002421.3:p.(Arg1087His)	NC_000022.10:g.28193272C>T	VUS	1 lab	03ae7d19e0
1:151378261 POGZ G>A	1	151378261	151378261	G	A	POGZ	c.3250C>T	NM_015100.4	NP_055915.2:p.(His1084Tyr)	NC_000001.10:g.151378261G>A	(Likely) benign	1 lab	03af60c68b
3:124369676 KALRN C>A	3	124369676	124369676	C	A	KALRN	c.5683C>A	NM_001024660.5	NP_001019831.2:p.(Arg1895=)	NC_000003.11:g.124369676C>A	(Likely) benign	1 lab	196c3371fd
19:13323008 CACNA1A C>A	19	13323008	13323008	C	A	CACNA1A	c.6212G>T	NM_001127222.2	NP_001120694.1:p.(Gly2071Val)	NC_000019.9:g.13323008C>A	(Likely) benign	1 lab	03b1acccd0
2:108603431 SLC5A7 A>G	2	108603431	108603431	A	G	SLC5A7	c.-52+212A>G	NM_021815.5	NP_068587.1:p.?	NC_000002.11:g.108603431A>G	(Likely) benign	1 lab	19d064f709
2:73678449 ALMS1 A>G	2	73678449	73678449	A	G	ALMS1	c.4795A>G	NM_001378454.1	NP_001365383.1:p.(Ile1599Val)	NC_000002.11:g.73678449A>G	(Likely) benign	1 lab	03b432c23a
5:71493495 MAP1B C>T	5	71493495	71493495	C	T	MAP1B	c.4313C>T	NM_005909.5	NP_005900.2:p.(Ser1438Phe)	NC_000005.9:g.71493495C>T	(Likely) benign	1 lab	03b513ec6a
17:7099875 DLG4 C>T	17	7099875	7099875	C	T	DLG4	c.1232G>A	NM_001365.4	NP_001356.1:p.(Arg411Gln)	NC_000017.10:g.7099875C>T	VUS	1 lab	196d51a94e
16:2079717 NHERF2 CGA>C	16	2079717	2079719	CGA	C	NHERF2	c.349_350del	NM_001130012.3	NP_001123484.1:p.(Asp117ProfsTer50)	NC_000016.9:g.2079718_2079719del	(Likely) benign	1 lab	03b6135d50
20:23615988 CST3 T>G	20	23615988	23615988	T	G	CST3	c.260A>C	NM_000099.4	NP_000090.1:p.(Asn87Thr)	NC_000020.10:g.23615988T>G	VUS	1 lab	03b732f803
9:98775249 ERCC6L2 CAG>C	9	98775249	98775254	CAG	C	ERCC6L2	c.4421_4422del	NM_020207.7	NP_064592.3:p.(Arg1474ThrfsTer10)	NC_000009.11:g.98775253_98775254del	VUS	1 lab	03b89fb6f0
20:60908163 LAMA5 T>A	20	60908163	60908163	T	A	LAMA5	c.3265A>T	NM_005560.6	NP_005551.3:p.(Thr1089Ser)	NC_000020.10:g.60908163T>A	(Likely) benign	1 lab	03ba28355a
5:42718936 GHR A>T	5	42718936	42718936	A	T	GHR	c.1327A>T	NM_000163.5	NP_000154.1:p.(Thr443Ser)	NC_000005.9:g.42718936A>T	VUS	1 lab	03ba9fc1b1
2:39251255 SOS1 A>T	2	39251255	39251255	A	T	SOS1	c.1098T>A	NM_005633.4	NP_005624.2:p.(Asp366Glu)	NC_000002.11:g.39251255A>T	(Likely) benign	1 lab	03bb069995
22:40626605 TNRC6B C>T	22	40626605	40626605	C	T	TNRC6B	c.6-15414C>T	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40626605C>T	VUS	1 lab	03bc57bd34
5:140203747 PCDHA1 C>A	5	140203747	140203747	C	A	PCDHA1	c.2394+35478C>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140203747C>A	VUS	1 lab	03bd9a4b37
2:234394236 USP40 G>GT	2	234394236	234394245	G	GT	USP40	c.3444dup	NM_001365479.2	NP_001352408.1:p.(Gln1149ThrfsTer20)	NC_000002.11:g.234394245dup	VUS	1 lab	03be23b530
16:31501722 SLC5A2 A>G	16	31501722	31501722	A	G	SLC5A2	c.1885A>G	NM_003041.4	NP_003032.1:p.(Thr629Ala)	NC_000016.9:g.31501722A>G	(Likely) benign	1 lab	03c061c148
4:5806512 EVC G>A	4	5806512	5806512	G	A	EVC	c.2505G>A	NM_153717.3	NP_714928.1:p.(Ser835=)	NC_000004.11:g.5806512G>A	(Likely) benign	1 lab	03c1abb025
15:48744809 FBN1 C>T	15	48744809	48744809	C	T	FBN1	c.5495G>A	NM_000138.5	NP_000129.3:p.(Arg1832His)	NC_000015.9:g.48744809C>T	VUS	1 lab	03c1cb2b81
13:92560312 GPC5 G>C	13	92560312	92560312	G	C	GPC5	c.1401+1G>C	NM_004466.6	NP_004457.1:p.?	NC_000013.10:g.92560312G>C	VUS	1 lab	03c2bd1db6
11:108164107 ATM AG>A	11	108164107	108164108	AG	A	ATM	c.4680del	NM_000051.4	NP_000042.3:p.(Lys1560AsnfsTer3)	NC_000011.9:g.108164108del	(Likely) pathogenic	1 lab	03c2bf7f00
17:40369384 STAT5B T>G	17	40369384	40369384	T	G	STAT5B	c.1257+11A>C	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40369384T>G	(Likely) benign	1 lab	03c3cb037b
1:237013703 MTR A>T	1	237013703	237013703	A	T	MTR	c.1575A>T	NM_000254.3	NP_000245.2:p.(Lys525Asn)	NC_000001.10:g.237013703A>T	VUS	1 lab	03c451b5a0
9:126128390 CRB2 G>C	9	126128390	126128390	G	C	CRB2	c.613G>C	NM_173689.7	NP_775960.4:p.(Gly205Arg)	NC_000009.11:g.126128390G>C	VUS	1 lab	03c58ab1d5
4:8229531 SH3TC1 G>A	4	8229531	8229531	G	A	SH3TC1	c.2110G>A	NM_018986.5	NP_061859.4:p.(Ala704Thr)	NC_000004.11:g.8229531G>A	(Likely) benign	1 lab	03c67707f7
19:34890167 GPI C>T	19	34890167	34890167	C	T	GPI	c.1325C>T	NM_000175.5	NP_000166.2:p.(Thr442Met)	NC_000019.9:g.34890167C>T	VUS	1 lab	03c766e72a
9:36246044 GNE G>A	9	36246044	36246044	G	A	GNE	c.600C>T	NM_005476.7	NP_005467.1:p.(Ile200=)	NC_000009.11:g.36246044G>A	(Likely) benign	1 lab	03c98bebd5
19:757461 MISP C>T	19	757461	757461	C	T	MISP	c.515C>T	NM_173481.4	NP_775752.1:p.(Thr172Ile)	NC_000019.9:g.757461C>T	(Likely) benign	1 lab	03cb60adfe
1:179311262 SOAT1 T>C	1	179311262	179311262	T	C	SOAT1	c.794T>C	NM_003101.6	NP_003092.4:p.(Met265Thr)	NC_000001.10:g.179311262T>C	VUS	1 lab	03cc403a09
8:11606580 GATA4 C>T	8	11606580	11606580	C	T	GATA4	c.772C>T	NM_001308093.3	NP_001295022.1:p.(Pro258Ser)	NC_000008.10:g.11606580C>T	VUS	1 lab	03cd128e90
1:86590578 COL24A1 T>C	1	86590578	86590578	T	C	COL24A1	c.1441A>G	NM_152890.7	NP_690850.2:p.(Met481Val)	NC_000001.10:g.86590578T>C	(Likely) benign	1 lab	03cd863236
8:144994413 PLEC G>A	8	144994413	144994413	G	A	PLEC	c.9576C>T	NM_201384.3	NP_958786.1:p.(Tyr3192=)	NC_000008.10:g.144994413G>A	(Likely) benign	1 lab	03ce1382ad
1:11159771 EXOSC10 A>G	1	11159771	11159771	A	G	EXOSC10	c.111+7T>C	NM_001001998.3	NP_001001998.1:p.?	NC_000001.10:g.11159771A>G	(Likely) benign	1 lab	03ce3bb2c9
19:17013484 CPAMD8 T>C	19	17013484	17013484	T	C	CPAMD8	c.4660A>G	NM_015692.5	NP_056507.3:p.(Lys1554Glu)	NC_000019.9:g.17013484T>C	(Likely) benign	1 lab	03cfae661d
17:1630609 WDR81 A>T	17	1630609	1630609	A	T	WDR81	c.2356A>T	NM_001163809.2	NP_001157281.1:p.(Arg786Trp)	NC_000017.10:g.1630609A>T	(Likely) benign	1 lab	03cfbe4fbf
12:49434763 KMT2D C>G	12	49434763	49434763	C	G	KMT2D	c.6790G>C	NM_003482.4	NP_003473.3:p.(Gly2264Arg)	NC_000012.11:g.49434763C>G	VUS	1 lab	03d0391428
15:90172286 KIF7 C>G	15	90172286	90172286	C	G	KIF7	c.3585G>C	NM_198525.3	NP_940927.2:p.(Lys1195Asn)	NC_000015.9:g.90172286C>G	VUS	1 lab	03d0d1eefe
1:26140381 SELENON G>A	1	26140381	26140381	G	A	SELENON	c.1295G>A	NM_206926.2	NP_996809.1:p.(Arg432Gln)	NC_000001.10:g.26140381G>A	(Likely) pathogenic	1 lab	03d23b060b
15:90213292 PLIN1 C>T	15	90213292	90213292	C	T	PLIN1	c.517G>A	NM_002666.5	NP_002657.3:p.(Ala173Thr)	NC_000015.9:g.90213292C>T	(Likely) pathogenic	1 lab	03d2cfa789
16:51173863 SALL1 C>T	16	51173863	51173863	C	T	SALL1	c.2270G>A	NM_002968.3	NP_002959.2:p.(Arg757His)	NC_000016.9:g.51173863C>T	VUS	1 lab	03d40e9d2b
6:51890019 PKHD1 A>T	6	51890019	51890019	A	T	PKHD1	c.4589T>A	NM_138694.4	NP_619639.3:p.(Phe1530Tyr)	NC_000006.11:g.51890019A>T	VUS	1 lab	03d49e3b36
13:111111123 COL4A2 G>A	13	111111123	111111123	G	A	COL4A2	c.1438G>A	NM_001846.4	NP_001837.2:p.(Ala480Thr)	NC_000013.10:g.111111123G>A	(Likely) benign	1 lab	03d515b8ca
12:122517073 MLXIP A>G	12	122517073	122517073	A	G	MLXIP	c.314A>G	NM_014938.6	NP_055753.3:p.(Gln105Arg)	NC_000012.11:g.122517073A>G	VUS	1 lab	03d6242114
3:37035142 MLH1 T>A	3	37035142	37035142	T	A	MLH1	c.104T>A	NM_000249.4	NP_000240.1:p.(Met35Lys)	NC_000003.11:g.37035142T>A	VUS	1 lab	03d682dadb
X:41472356 CASK GC>G	X	41472356	41472359	GC	G	CASK	c.1034-3079del	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41472359del	(Likely) benign	1 lab	03d75d4e21
15:41229025 DLL4 G>C	15	41229025	41229025	G	C	DLL4	c.1840G>C	NM_019074.4	NP_061947.1:p.(Asp614His)	NC_000015.9:g.41229025G>C	VUS	1 lab	03d826a147
2:166170419 SCN2A G>A	2	166170419	166170419	G	A	SCN2A	c.1184G>A	NM_001040142.2	NP_001035232.1:p.(Arg395His)	NC_000002.11:g.166170419G>A	(Likely) pathogenic	1 lab	03d96b502e
10:135209747 MTG1 C>G	10	135209747	135209747	C	G	MTG1	c.258C>G	NM_138384.4	NP_612393.2:p.(Asp86Glu)	NC_000010.10:g.135209747C>G	(Likely) benign	1 lab	03d9772ad0
15:65370388 KBTBD13 T>A	15	65370388	65370388	T	A	KBTBD13	c.1235T>A	NM_001101362.3	NP_001094832.1:p.(Leu412Gln)	NC_000015.9:g.65370388T>A	(Likely) benign	1 lab	03d9af35d1
6:143090787 HIVEP2 T>G	6	143090787	143090787	T	G	HIVEP2	c.5089A>C	NM_006734.4	NP_006725.3:p.(Lys1697Gln)	NC_000006.11:g.143090787T>G	VUS	1 lab	03dad6889b
4:1803397 FGFR3 C>T	4	1803397	1803397	C	T	FGFR3	c.666C>T	NM_000142.5	NP_000133.1:p.(Asp222=)	NC_000004.11:g.1803397C>T	(Likely) benign	1 lab	03db071ac1
X:138879361 ATP11C T>C	X	138879361	138879361	T	C	ATP11C	c.982A>G	NM_001353812.2	NP_001340741.2:p.(Thr328Ala)	NC_000023.10:g.138879361T>C	VUS	1 lab	03db551ce2
8:61765539 CHD7 G>T	8	61765539	61765539	G	T	CHD7	c.6255G>T	NM_017780.4	NP_060250.2:p.(Leu2085Phe)	NC_000008.10:g.61765539G>T	VUS	1 lab	03dcc2d77a
17:63554395 AXIN2 T>C	17	63554395	63554395	T	C	AXIN2	c.344A>G	NM_004655.4	NP_004646.3:p.(Asn115Ser)	NC_000017.10:g.63554395T>C	VUS	1 lab	03dcfc8ddf
15:78768527 IREB2 T>C	15	78768527	78768527	T	C	IREB2	c.1024-3T>C	NM_004136.4	NP_004127.2:p.?	NC_000015.9:g.78768527T>C	(Likely) benign	1 lab	03e067cd44
1:108679306 SLC25A24 A>G	1	108679306	108679306	A	G	SLC25A24	c.1403T>C	NM_013386.5	NP_037518.3:p.(Met468Thr)	NC_000001.10:g.108679306A>G	VUS	1 lab	03e07e4d52
11:126174002 DCPS C>T	11	126174002	126174002	C	T	DCPS	c.27C>T	NM_014026.6	NP_054745.1:p.(Gly9=)	NC_000011.9:g.126174002C>T	VUS	1 lab	03e29eca91
X:100743892 ARMCX4 A>G	X	100743892	100743892	A	G	ARMCX4	c.316A>G	NM_001256155.3	NP_001243084.2:p.(Met106Val)	NC_000023.10:g.100743892A>G	VUS	1 lab	03e2ca101d
2:75113788 HK2 C>T	2	75113788	75113788	C	T	HK2	c.2207C>T	NM_000189.5	NP_000180.2:p.(Pro736Leu)	NC_000002.11:g.75113788C>T	(Likely) benign	1 lab	03e2fc9c2a
X:100103625 NOX1 TG>T	X	100103625	100103628	TG	T	NOX1	c.1561del	NM_007052.5	NP_008983.2:p.(His521ThrfsTer5)	NC_000023.10:g.100103628del	VUS	1 lab	03e3d15872
15:81274339 MESD G>A	15	81274339	81274339	G	A	MESD	c.398C>T	NM_015154.3	NP_055969.1:p.(Thr133Met)	NC_000015.9:g.81274339G>A	VUS	1 lab	03e53255ed
22:29752539 AP1B1 C>T	22	29752539	29752539	C	T	AP1B1	c.592G>A	NM_001127.4	NP_001118.3:p.(Asp198Asn)	NC_000022.10:g.29752539C>T	VUS	1 lab	03e58dfdb1
4:102092522 PPP3CA A>AG	4	102092522	102092523	A	AG	PPP3CA	c.259+24550_259+24551insC	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102092522_102092523insG	(Likely) benign	1 lab	03e67bfb13
13:30072548 MTUS2 TC>T	13	30072548	30072549	TC	T	MTUS2	c.3679-6del	NM_001033602.4	NP_001028774.3:p.?	NC_000013.10:g.30072549del	VUS	1 lab	03e6bd16b6
8:116599835 TRPS1 GAGA>G	8	116599835	116599845	GAGA	G	TRPS1	c.2097-7_2097-5del	NM_014112.5	NP_054831.2:p.?	NC_000008.10:g.116599843_116599845del	VUS	1 lab	03e6f33df2
17:74472964 RHBDF2 G>A	17	74472964	74472964	G	A	RHBDF2	c.1063C>T	NM_001005498.4	NP_001005498.2:p.(Arg355Cys)	NC_000017.10:g.74472964G>A	VUS	1 lab	03e705dd66
3:184072382 CLCN2 C>A	3	184072382	184072382	C	A	CLCN2	c.1461G>T	NM_004366.6	NP_004357.3:p.(Thr487=)	NC_000003.11:g.184072382C>A	(Likely) benign	1 lab	03e74ac16f
12:125396964 UBC G>A	12	125396964	125396964	G	A	UBC	c.1354C>T	NM_021009.7	NP_066289.3:p.(Arg452Cys)	NC_000012.11:g.125396964G>A	VUS	1 lab	03e758379f
4:5627471 EVC2 T>C	4	5627471	5627471	T	C	EVC2	c.2046+5A>G	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5627471T>C	(Likely) benign	1 lab	03e8fd8045
1:26764293 DHDDS A>T	1	26764293	26764293	A	T	DHDDS	c.64-366A>T	NM_205861.3	NP_995583.1:p.?	NC_000001.10:g.26764293A>T	(Likely) benign	1 lab	03e951924c
12:32996124 PKP2 T>C	12	32996124	32996124	T	C	PKP2	c.1379-1985A>G	NM_001005242.3	NP_001005242.2:p.?	NC_000012.11:g.32996124T>C	(Likely) benign	1 lab	03eb977098
6:20212419 MBOAT1 CCCG>C	6	20212419	20212422	CCCG	C	MBOAT1	c.44_46del	NM_001080480.3	NP_001073949.1:p.(Thr15_Gly16delinsSer)	NC_000006.11:g.20212420_20212422del	(Likely) benign	1 lab	03eb9e6cb7
1:111965654 OVGP1 C>T	1	111965654	111965654	C	T	OVGP1	c.503G>A	NM_002557.4	NP_002548.3:p.(Arg168Gln)	NC_000001.10:g.111965654C>T	VUS	1 lab	03ec3e4f0a
4:103806396 CISD2 C>T	4	103806396	103806396	C	T	CISD2	c.127C>T	NM_001008388.5	NP_001008389.1:p.(Pro43Ser)	NC_000004.11:g.103806396C>T	VUS	1 lab	03ef8a80cb
7:44269061 CAMK2B C>T	7	44269061	44269061	C	T	CAMK2B	c.1265G>A	NM_001220.5	NP_001211.3:p.(Gly422Asp)	NC_000007.13:g.44269061C>T	(Likely) benign	1 lab	03f0026bee
8:106815679 ZFPM2 A>G	8	106815679	106815679	A	G	ZFPM2	c.3369A>G	NM_012082.4	NP_036214.2:p.(Leu1123=)	NC_000008.10:g.106815679A>G	(Likely) benign	1 lab	03f0a20790
17:61994712 GH1 C>T	17	61994712	61994712	C	T	GH1	c.611G>A	NM_000515.5	NP_000506.2:p.(Arg204His)	NC_000017.10:g.61994712C>T	(Likely) pathogenic	1 lab	03f17d1a5e
16:16297262 ABCC6 C>T	16	16297262	16297262	C	T	ABCC6	c.998+5G>A	NM_001171.6	NP_001162.5:p.?	NC_000016.9:g.16297262C>T	(Likely) benign	1 lab	03f3461b84
17:42940267 EFTUD2 AG>A	17	42940267	42940272	AG	A	EFTUD2	c.1420del	NM_004247.4	NP_004238.3:p.(Leu474Ter)	NC_000017.10:g.42940272del	VUS	1 lab	03f4218e82
2:179404470 TTN G>T	2	179404470	179404470	G	T	TTN	c.98322C>A	NM_001267550.2	NP_001254479.2:p.(Asp32774Glu)	NC_000002.11:g.179404470G>T	VUS	1 lab	03f5dc8335
12:122252060 SETD1B C>A	12	122252060	122252060	C	A	SETD1B	c.1939C>A	NM_001353345.2	NP_001340274.1:p.(Pro647Thr)	NC_000012.11:g.122252060C>A	(Likely) benign	1 lab	03f6edf93a
7:44185102 GCK T>C	7	44185102	44185102	T	C	GCK	c.1247A>G	NM_000162.5	NP_000153.1:p.(His416Arg)	NC_000007.13:g.44185102T>C	(Likely) pathogenic	1 lab	03f8148d92
1:22167785 HSPG2 G>A	1	22167785	22167785	G	A	HSPG2	c.9329-7C>T	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22167785G>A	(Likely) benign	1 lab	03fc0354bf
17:59926529 BRIP1 T>C	17	59926529	59926529	T	C	BRIP1	c.468A>G	NM_032043.3	NP_114432.2:p.(Val156=)	NC_000017.10:g.59926529T>C	(Likely) benign	1 lab	03fcde8bee
4:947013 TMEM175 C>G	4	947013	947013	C	G	TMEM175	c.498C>G	NM_032326.4	NP_115702.1:p.(His166Gln)	NC_000004.11:g.947013C>G	VUS	1 lab	03ff820629
9:98734780 ERCC6L2 A>G	9	98734780	98734780	A	G	ERCC6L2	c.2747A>G	NM_020207.7	NP_064592.3:p.(Asp916Gly)	NC_000009.11:g.98734780A>G	VUS	1 lab	03ff968d4f
X:86890709 KLHL4 A>T	X	86890709	86890709	A	T	KLHL4	c.1859A>T	NM_019117.5	NP_061990.2:p.(Tyr620Phe)	NC_000023.10:g.86890709A>T	VUS	1 lab	03ffb9c3ea
18:10762911 PIEZO2 G>A	18	10762911	10762911	G	A	PIEZO2	c.3123+9C>T	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10762911G>A	(Likely) benign	1 lab	04007c9e6d
1:22178588 HSPG2 C>T	1	22178588	22178588	C	T	HSPG2	c.6863G>A	NM_005529.7	NP_005520.4:p.(Arg2288Gln)	NC_000001.10:g.22178588C>T	VUS	1 lab	0400f3d0f0
18:53071053 TCF4 C>T	18	53071053	53071053	C	T	TCF4	c.305-304G>A	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53071053C>T	(Likely) benign	1 lab	0402b74db6
14:76118146 ERG28 G>A	14	76118146	76118146	G	A	ERG28	c.311C>T	NM_007176.4	NP_009107.1:p.(Thr104Met)	NC_000014.8:g.76118146G>A	VUS	1 lab	0402f8faff
10:71142538 HK1 G>A	10	71142538	71142538	G	A	HK1	c.1561G>A	NM_000188.3	NP_000179.2:p.(Asp521Asn)	NC_000010.10:g.71142538G>A	VUS	1 lab	0406489de5
8:144999453 PLEC C>T	8	144999453	144999453	C	T	PLEC	c.4644G>A	NM_201384.3	NP_958786.1:p.(Ala1548=)	NC_000008.10:g.144999453C>T	(Likely) benign	1 lab	040777d9ab
8:124195104 SACK1A G>A	8	124195104	124195104	G	A	SACK1A	c.8G>A	NM_001394396.1	NP_001381325.1:p.(Arg3Gln)	NC_000008.10:g.124195104G>A	VUS	1 lab	0409047a16
1:212274365 DTL G>A	1	212274365	212274365	G	A	DTL	c.2033G>A	NM_016448.4	NP_057532.4:p.(Arg678Gln)	NC_000001.10:g.212274365G>A	(Likely) benign	1 lab	040a55779c
2:109546682 EDAR G>A	2	109546682	109546682	G	A	EDAR	c.68C>T	NM_022336.4	NP_071731.1:p.(Ser23Leu)	NC_000002.11:g.109546682G>A	(Likely) benign	1 lab	040c07a984
6:32008469 CYP21A2 G>C	6	32008469	32008469	G	C	CYP21A2	c.1143G>C	NM_000500.9	NP_000491.4:p.(Glu381Asp)	NC_000006.11:g.32008469G>C	VUS	1 lab	196eab1fd0
10:61835685 ANK3 T>C	10	61835685	61835685	T	C	ANK3	c.4954A>G	NM_020987.5	NP_066267.2:p.(Asn1652Asp)	NC_000010.10:g.61835685T>C	VUS	1 lab	040c5b1c48
19:12461456 ZNF442 G>C	19	12461456	12461456	G	C	ZNF442	c.943C>G	NM_030824.3	NP_110451.1:p.(His315Asp)	NC_000019.9:g.12461456G>C	VUS	1 lab	040cc2a745
2:148716383 ORC4 T>C	2	148716383	148716383	T	C	ORC4	c.278A>G	NM_181741.4	NP_859525.1:p.(Asn93Ser)	NC_000002.11:g.148716383T>C	VUS	1 lab	040e1fc02b
5:176799038 RGS14 G>A	5	176799038	176799038	G	A	RGS14	c.1663G>A	NM_006480.5	NP_006471.2:p.(Gly555Arg)	NC_000005.9:g.176799038G>A	(Likely) benign	1 lab	040fee50e2
12:109924382 UBE3B TAACAAAAA>T	12	109924382	109924392	TAACAAAAA	T	UBE3B	c.447+5_447+12del	NM_130466.4	NP_569733.2:p.?	NC_000012.11:g.109924385_109924392del	VUS	1 lab	0411467cd4
1:155365311 ASH1L CTCTT>C	1	155365311	155365320	CTCTT	C	ASH1L	c.6038_6041del	NM_018489.3	NP_060959.2:p.(Lys2013ArgfsTer25)	NC_000001.10:g.155365317_155365320del	(Likely) pathogenic	1 lab	04120113b6
X:135429476 ADGRG4 CCA>C	X	135429476	135429480	CCA	C	ADGRG4	c.3614_3615del	NM_153834.4	NP_722576.3:p.(Thr1205ArgfsTer6)	NC_000023.10:g.135429479_135429480del	VUS	1 lab	04125db284
1:152285344 FLG G>C	1	152285344	152285344	G	C	FLG	c.2018C>G	NM_002016.2	NP_002007.1:p.(Ser673Cys)	NC_000001.10:g.152285344G>C	(Likely) benign	1 lab	0413dd32b0
2:152527566 NEB C>G	2	152527566	152527566	C	G	NEB	c.4477G>C	NM_001164508.2	NP_001157980.2:p.(Ala1493Pro)	NC_000002.11:g.152527566C>G	VUS	1 lab	04183cd0e5
8:55539215 RP1 C>A	8	55539215	55539215	C	A	RP1	c.2773C>A	NM_006269.2	NP_006260.1:p.(Pro925Thr)	NC_000008.10:g.55539215C>A	(Likely) benign	1 lab	0418a54d54
17:1173973 BHLHA9 C>A	17	1173973	1173973	C	A	BHLHA9	c.116C>A	NM_001164405.2	NP_001157877.1:p.(Ala39Glu)	NC_000017.10:g.1173973C>A	(Likely) benign	1 lab	04193f763b
1:11155886 EXOSC10 T>G	1	11155886	11155886	T	G	EXOSC10	c.301A>C	NM_001001998.3	NP_001001998.1:p.(Ser101Arg)	NC_000001.10:g.11155886T>G	(Likely) benign	1 lab	041a5c7a2a
6:33642030 ITPR3 T>C	6	33642030	33642030	T	C	ITPR3	c.3104T>C	NM_002224.4	NP_002215.2:p.(Met1035Thr)	NC_000006.11:g.33642030T>C	(Likely) benign	1 lab	041abb5e73
12:13715789 GRIN2B GT>G	12	13715789	13715794	GT	G	GRIN2B	c.4382del	NM_000834.5	NP_000825.2:p.(Asn1461ThrfsTer26)	NC_000012.11:g.13715794del	VUS	1 lab	041b1f1012
19:6908762 ADGRE1 A>C	19	6908762	6908762	A	C	ADGRE1	c.1101A>C	NM_001974.5	NP_001965.3:p.(Lys367Asn)	NC_000019.9:g.6908762A>C	(Likely) benign	1 lab	041dc195fc
2:152536516 NEB TC>T	2	152536516	152536518	TC	T	NEB	c.3062del	NM_001164508.2	NP_001157980.2:p.(Gly1021GlufsTer36)	NC_000002.11:g.152536518del	VUS	1 lab	041edec50d
10:50713937 ERCC6 GC>G	10	50713937	50713938	GC	G	ERCC6	c.1518del	NM_000124.4	NP_000115.1:p.(Lys506AsnfsTer37)	NC_000010.10:g.50713938del	(Likely) pathogenic	1 lab	041ee728e9
12:49364306 WNT10B C>G	12	49364306	49364306	C	G	WNT10B	c.7G>C	NM_003394.4	NP_003385.2:p.(Glu3Gln)	NC_000012.11:g.49364306C>G	VUS	1 lab	0421427199
10:115657944 NHLRC2 A>G	10	115657944	115657944	A	G	NHLRC2	c.1115A>G	NM_198514.4	NP_940916.2:p.(Asp372Gly)	NC_000010.10:g.115657944A>G	(Likely) benign	1 lab	0421933211
11:17409164 KCNJ11 T>C	11	17409164	17409164	T	C	KCNJ11	c.475A>G	NM_000525.4	NP_000516.3:p.(Ile159Val)	NC_000011.9:g.17409164T>C	VUS	1 lab	0421efa26f
21:34923743 SON C>G	21	34923743	34923743	C	G	SON	c.2206C>G	NM_138927.4	NP_620305.3:p.(Leu736Val)	NC_000021.8:g.34923743C>G	(Likely) benign	1 lab	04229d7b34
1:22155942 HSPG2 C>T	1	22155942	22155942	C	T	HSPG2	c.11926G>A	NM_005529.7	NP_005520.4:p.(Val3976Met)	NC_000001.10:g.22155942C>T	VUS	1 lab	0422fbee24
9:79323853 PRUNE2 C>T	9	79323853	79323853	C	T	PRUNE2	c.3337G>A	NM_015225.3	NP_056040.2:p.(Asp1113Asn)	NC_000009.11:g.79323853C>T	(Likely) benign	1 lab	04230103b8
20:60897149 LAMA5 C>A	20	60897149	60897149	C	A	LAMA5	c.6422G>T	NM_005560.6	NP_005551.3:p.(Arg2141Leu)	NC_000020.10:g.60897149C>A	VUS	1 lab	04234ab4f2
6:5545479 FARS2 A>G	6	5545479	5545479	A	G	FARS2	c.971A>G	NM_006567.5	NP_006558.1:p.(Tyr324Cys)	NC_000006.11:g.5545479A>G	VUS	1 lab	04234f3085
6:87970705 ZNF292 CGT>C	6	87970705	87970711	CGT	C	ZNF292	c.7363_7364del	NM_015021.3	NP_055836.1:p.(Val2455IlefsTer5)	NC_000006.11:g.87970710_87970711del	VUS	1 lab	0423da0edf
3:25686929 TOP2B T>G	3	25686929	25686929	T	G	TOP2B	c.102A>C	NM_001330700.2	NP_001317629.1:p.(Lys34Asn)	NC_000003.11:g.25686929T>G	(Likely) benign	1 lab	0426504281
16:2155412 PKD1 G>A	16	2155412	2155412	G	A	PKD1	c.7927C>T	NM_001009944.3	NP_001009944.3:p.(Arg2643Cys)	NC_000016.9:g.2155412G>A	(Likely) pathogenic	1 lab	04278a23b9
16:66551710 TK2 C>G	16	66551710	66551710	C	G	TK2	c.520G>C	NM_004614.5	NP_004605.4:p.(Val174Leu)	NC_000016.9:g.66551710C>G	VUS	1 lab	0428ca2b91
21:47851954 PCNT G>C	21	47851954	47851954	G	C	PCNT	c.8576G>C	NM_006031.6	NP_006022.3:p.(Cys2859Ser)	NC_000021.8:g.47851954G>C	VUS	1 lab	04296e2feb
2:21225858 APOB C>T	2	21225858	21225858	C	T	APOB	c.12436G>A	NM_000384.3	NP_000375.3:p.(Asp4146Asn)	NC_000002.11:g.21225858C>T	(Likely) benign	1 lab	042cd1aaa9
9:138656865 KCNT1 T>G	9	138656865	138656865	T	G	KCNT1	c.1036-12T>G	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138656865T>G	(Likely) benign	1 lab	19d1bd900d
6:51637586 PKHD1 C>G	6	51637586	51637586	C	G	PKHD1	c.8556G>C	NM_138694.4	NP_619639.3:p.(Gly2852=)	NC_000006.11:g.51637586C>G	VUS	1 lab	042fec61b4
20:57415876 GNAS-AS1 C>A	20	57415876	57415876	C	A	GNAS-AS1	n.672+1116G>T	NR_185847.1		NC_000020.10:g.57415876C>A	(Likely) benign	1 lab	043018be03
4:103560932 MANBA G>A	4	103560932	103560932	G	A	MANBA	c.1952C>T	NM_005908.4	NP_005899.3:p.(Thr651Met)	NC_000004.11:g.103560932G>A	VUS	1 lab	0431b66536
12:2602430 CACNA1C G>A	12	2602430	2602430	G	A	CACNA1C	c.991G>A	NM_000719.7	NP_000710.5:p.(Val331Met)	NC_000012.11:g.2602430G>A	VUS	1 lab	043213ced4
2:27464911 CAD T>A	2	27464911	27464911	T	A	CAD	c.6016T>A	NM_004341.5	NP_004332.2:p.(Ser2006Thr)	NC_000002.11:g.27464911T>A	VUS	1 lab	0433ea2b4d
13:31774235 B3GLCT C>T	13	31774235	31774235	C	T	B3GLCT	c.14C>T	NM_194318.4	NP_919299.3:p.(Ala5Val)	NC_000013.10:g.31774235C>T	VUS	1 lab	043776dc9a
X:110654178 DCX G>A	X	110654178	110654178	G	A	DCX	c.-22-530C>T	NM_001195553.2	NP_001182482.1:p.?	NC_000023.10:g.110654178G>A	(Likely) benign	1 lab	0437853b36
1:22028095 USP48 C>T	1	22028095	22028095	C	T	USP48	c.2623G>A	NM_032236.8	NP_115612.4:p.(Val875Met)	NC_000001.10:g.22028095C>T	(Likely) benign	1 lab	0437b70d3d
14:21862492 CHD8 T>C	14	21862492	21862492	T	C	CHD8	c.5543A>G	NM_001170629.2	NP_001164100.1:p.(His1848Arg)	NC_000014.8:g.21862492T>C	(Likely) benign	1 lab	0437d54858
4:56212504 SRD5A3 A>G	4	56212504	56212504	A	G	SRD5A3	c.1A>G	NM_024592.5	NP_078868.1:p.(Met1?)	NC_000004.11:g.56212504A>G	VUS	1 lab	0439d7b59e
20:44639775 MMP9 C>T	20	44639775	44639775	C	T	MMP9	c.650-7C>T	NM_004994.3	NP_004985.2:p.?	NC_000020.10:g.44639775C>T	(Likely) benign	1 lab	043c2a57e4
19:5132025 KDM4B G>C	19	5132025	5132025	G	C	KDM4B	c.1906+7G>C	NM_015015.3	NP_055830.1:p.?	NC_000019.9:g.5132025G>C	(Likely) benign	1 lab	043cb1c030
12:88443133 RLIG1 T>C	12	88443133	88443133	T	C	RLIG1	c.*934T>C	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443133T>C	VUS	1 lab	043dba1351
22:51153377 SHANK3 G>C	22	51153377	51153377	G	C	SHANK3	c.2392G>C	NM_001372044.2	NP_001358973.1:p.(Glu798Gln)	NC_000022.10:g.51153377G>C	VUS	1 lab	043fee9821
14:30396471 PRKD1 G>A	14	30396471	30396471	G	A	PRKD1	c.248C>T	NM_002742.3	NP_002733.2:p.(Ser83Phe)	NC_000014.8:g.30396471G>A	VUS	1 lab	0440f0415d
3:42950306 ZNF662 C>T	3	42950306	42950306	C	T	ZNF662	c.56C>T	NM_207404.4	NP_997287.2:p.(Pro19Leu)	NC_000003.11:g.42950306C>T	(Likely) benign	1 lab	0441c6ae7f
4:2077246 POLN C>T	4	2077246	2077246	C	T	POLN	c.2388G>A	NM_181808.4	NP_861524.2:p.(Arg796=)	NC_000004.11:g.2077246C>T	VUS	1 lab	044226ebff
17:47246247 B4GALNT2 C>T	17	47246247	47246247	C	T	B4GALNT2	c.1300C>T	NM_001159387.2	NP_001152859.1:p.(Arg434Ter)	NC_000017.10:g.47246247C>T	(Likely) benign	1 lab	044252e108
11:61091614 DDB1 C>A	11	61091614	61091614	C	A	DDB1	c.763-5G>T	NM_001923.5	NP_001914.3:p.?	NC_000011.9:g.61091614C>A	VUS	1 lab	04431b84f5
19:14037530 CC2D1A C>A	19	14037530	14037530	C	A	CC2D1A	c.2065C>A	NM_017721.5	NP_060191.3:p.(Pro689Thr)	NC_000019.9:g.14037530C>A	(Likely) benign	1 lab	044335316a
12:117537087 TESC T>A	12	117537087	117537087	T	A	TESC	c.1A>T	NM_017899.4	NP_060369.3:p.(Met1?)	NC_000012.11:g.117537087T>A	VUS	1 lab	044339639f
17:67124753 ABCA6 C>A	17	67124753	67124753	C	A	ABCA6	c.1119+7G>T	NM_080284.3	NP_525023.2:p.?	NC_000017.10:g.67124753C>A	(Likely) benign	1 lab	044371858d
1:153659772 NPR1 G>A	1	153659772	153659772	G	A	NPR1	c.2032G>A	NM_000906.4	NP_000897.3:p.(Asp678Asn)	NC_000001.10:g.153659772G>A	VUS	1 lab	04446c2a81
X:107435813 COL4A6 G>A	X	107435813	107435813	G	A	COL4A6	c.1073-3C>T	NM_033641.4	NP_378667.1:p.?	NC_000023.10:g.107435813G>A	(Likely) benign	1 lab	0444f49f2f
X:153551543 TKTL1 G>A	X	153551543	153551543	G	A	TKTL1	c.1187-10G>A	NM_012253.4	NP_036385.3:p.?	NC_000023.10:g.153551543G>A	(Likely) benign	1 lab	0445628754
1:27106847 ARID1A G>A	1	27106847	27106847	G	A	ARID1A	c.6458G>A	NM_006015.6	NP_006006.3:p.(Arg2153His)	NC_000001.10:g.27106847G>A	(Likely) benign	1 lab	044638c204
16:69362947 PDF T>C	16	69362947	69362947	T	C	PDF	c.710A>G	NM_022341.2	NP_071736.1:p.(Tyr237Cys)	NC_000016.9:g.69362947T>C	(Likely) benign	1 lab	0447434dc3
7:99262902 CYP3A5 C>G	7	99262902	99262902	C	G	CYP3A5	c.557G>C	NM_000777.5	NP_000768.1:p.(Gly186Ala)	NC_000007.13:g.99262902C>G	VUS	1 lab	0449421492
11:5269614 HBG1 C>CT	11	5269614	5269615	C	CT	HBG1	c.418dup	NM_000559.3	NP_000550.2:p.(Ser140LysfsTer21)	NC_000011.9:g.5269615dup	VUS	1 lab	0449c96371
19:10089568 COL5A3 G>A	19	10089568	10089568	G	A	COL5A3	c.2963C>T	NM_015719.4	NP_056534.2:p.(Pro988Leu)	NC_000019.9:g.10089568G>A	(Likely) benign	1 lab	044c2c3891
15:72172797 MYO9A C>T	15	72172797	72172797	C	T	MYO9A	c.5501G>A	NM_006901.4	NP_008832.2:p.(Arg1834His)	NC_000015.9:g.72172797C>T	VUS	1 lab	044c673922
4:36130248 ARAP2 C>T	4	36130248	36130248	C	T	ARAP2	c.3547G>A	NM_015230.4	NP_056045.2:p.(Glu1183Lys)	NC_000004.11:g.36130248C>T	VUS	1 lab	04504a2e4a
17:44248705 KANSL1 G>A	17	44248705	44248705	G	A	KANSL1	c.805C>T	NM_015443.4	NP_056258.1:p.(Pro269Ser)	NC_000017.10:g.44248705G>A	(Likely) benign	1 lab	0450e7fce2
14:29236698 FOXG1 G>C	14	29236698	29236698	G	C	FOXG1	c.213G>C	NM_005249.5	NP_005240.3:p.(Gln71His)	NC_000014.8:g.29236698G>C	(Likely) benign	1 lab	045261ca9d
17:78350110 RNF213 G>A	17	78350110	78350110	G	A	RNF213	c.13195G>A	NM_001256071.3	NP_001243000.2:p.(Ala4399Thr)	NC_000017.10:g.78350110G>A	(Likely) benign	1 lab	045706e98a
19:45895352 PPP1R13L G>A	19	45895352	45895352	G	A	PPP1R13L	c.1601C>T	NM_006663.4	NP_006654.2:p.(Ala534Val)	NC_000019.9:g.45895352G>A	VUS	1 lab	045839d45e
19:42797909 CIC C>T	19	42797909	42797909	C	T	CIC	c.6688C>T	NM_001386298.1	NP_001373227.1:p.(Arg2230Cys)	NC_000019.9:g.42797909C>T	VUS	1 lab	0458acbdb2
X:41047285 USP9X T>C	X	41047285	41047285	T	C	USP9X	c.3725T>C	NM_001039591.3	NP_001034680.2:p.(Ile1242Thr)	NC_000023.10:g.41047285T>C	VUS	1 lab	0459c42e35
22:41572862 EP300 G>C	22	41572862	41572862	G	C	EP300	c.5147G>C	NM_001429.4	NP_001420.2:p.(Ser1716Thr)	NC_000022.10:g.41572862G>C	(Likely) benign	1 lab	045a89570c
18:10705751 PIEZO2 G>A	18	10705751	10705751	G	A	PIEZO2	c.5589-7C>T	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10705751G>A	(Likely) benign	1 lab	045b54d018
17:73487182 TMEM94 C>T	17	73487182	73487182	C	T	TMEM94	c.1181C>T	NM_014738.6	NP_055553.3:p.(Ser394Leu)	NC_000017.10:g.73487182C>T	VUS	1 lab	045c3ff917
5:180424241 BTNL3 C>T	5	180424241	180424241	C	T	BTNL3	c.426C>T	NM_197975.3	NP_932079.1:p.(Ile142=)	NC_000005.9:g.180424241C>T	(Likely) benign	1 lab	045c58a97b
9:126125475 CRB2 C>T	9	126125475	126125475	C	T	CRB2	c.418+8C>T	NM_173689.7	NP_775960.4:p.?	NC_000009.11:g.126125475C>T	(Likely) benign	1 lab	045d60090e
9:35806091 NPR2 C>T	9	35806091	35806091	C	T	NPR2	c.2233C>T	NM_003995.4	NP_003986.2:p.(Arg745Trp)	NC_000009.11:g.35806091C>T	VUS	1 lab	045d9c0d96
3:69169038 LMOD3 GTCA>G	3	69169038	69169052	GTCA	G	LMOD3	c.465_467del	NM_198271.5	NP_938012.2:p.(Asp157del)	NC_000003.11:g.69169050_69169052del	(Likely) benign	1 lab	045f98b467
10:134736171 CFAP46 G>A	10	134736171	134736171	G	A	CFAP46	c.1298C>T	NM_001200049.3	NP_001186978.2:p.(Ala433Val)	NC_000010.10:g.134736171G>A	(Likely) benign	1 lab	04608d4c60
17:73491716 TMEM94 C>A	17	73491716	73491716	C	A	TMEM94	c.2936C>A	NM_014738.6	NP_055553.3:p.(Thr979Asn)	NC_000017.10:g.73491716C>A	VUS	1 lab	04627d8476
1:181764087 CACNA1E A>G	1	181764087	181764087	A	G	CACNA1E	c.6115A>G	NM_001205293.3	NP_001192222.1:p.(Met2039Val)	NC_000001.10:g.181764087A>G	(Likely) benign	1 lab	0462fd21fd
21:44478972 CBS C>T	21	44478972	44478972	C	T	CBS	c.1330G>A	NM_000071.3	NP_000062.1:p.(Asp444Asn)	NC_000021.8:g.44478972C>T	(Likely) pathogenic	1 lab	0464090be0
5:141335151 PCDH12 C>T	5	141335151	141335151	C	T	PCDH12	c.2266G>A	NM_016580.4	NP_057664.1:p.(Glu756Lys)	NC_000005.9:g.141335151C>T	VUS	1 lab	0465bcd508
16:2169171 PKD1 G>C	16	2169171	2169171	G	C	PKD1	c.303C>G	NM_001009944.3	NP_001009944.3:p.(Asn101Lys)	NC_000016.9:g.2169171G>C	VUS	1 lab	04670b72e8
12:120146102 CIT A>T	12	120146102	120146102	A	T	CIT	c.5093T>A	NM_001206999.2	NP_001193928.1:p.(Leu1698His)	NC_000012.11:g.120146102A>T	VUS	1 lab	0468a18d42
X:135080689 SLC9A6 G>A	X	135080689	135080689	G	A	SLC9A6	c.496G>A	NM_001379110.1	NP_001366039.1:p.(Gly166Arg)	NC_000023.10:g.135080689G>A	VUS	1 lab	0468bf93e8
19:58152933 ZNF211 G>A	19	58152933	58152933	G	A	ZNF211	c.1118G>A	NM_006385.5	NP_006376.2:p.(Arg373His)	NC_000019.9:g.58152933G>A	VUS	1 lab	046988d99f
14:21829137 SUPT16H CAAG>C	14	21829137	21829145	CAAG	C	SUPT16H	c.1930-9_1930-7del	NM_007192.4	NP_009123.1:p.?	NC_000014.8:g.21829143_21829145del	(Likely) benign	1 lab	046a2ec549
8:91029478 DECR1 G>A	8	91029478	91029478	G	A	DECR1	c.196G>A	NM_001359.2	NP_001350.1:p.(Gly66Arg)	NC_000008.10:g.91029478G>A	VUS	1 lab	046a415f48
5:33467707 TARS1 G>T	5	33467707	33467707	G	T	TARS1	c.2066G>T	NM_152295.5	NP_689508.3:p.(Arg689Leu)	NC_000005.9:g.33467707G>T	VUS	1 lab	046bb3b987
17:41244657 BRCA1 C>T	17	41244657	41244657	C	T	BRCA1	c.2891G>A	NM_007294.4	NP_009225.1:p.(Gly964Glu)	NC_000017.10:g.41244657C>T	(Likely) benign	1 lab	046c003fe5
X:8763195 FAM9A CCTT>C	X	8763195	8763203	CCTT	C	FAM9A	c.752_754del	NM_174951.3	NP_777611.1:p.(Glu251del)	NC_000023.10:g.8763201_8763203del	VUS	1 lab	046e31b51a
11:61110810 TKFC G>A	11	61110810	61110810	G	A	TKFC	c.866-4G>A	NM_015533.4	NP_056348.2:p.?	NC_000011.9:g.61110810G>A	(Likely) benign	1 lab	046f20fada
4:993852 IDUA G>T	4	993852	993852	G	T	IDUA	c.300-548G>T	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.993852G>T	VUS	1 lab	046f7cabd4
16:30748697 SRCAP A>G	16	30748697	30748697	A	G	SRCAP	c.7336A>G	NM_006662.3	NP_006653.2:p.(Thr2446Ala)	NC_000016.9:g.30748697A>G	(Likely) benign	1 lab	0470c5659b
1:111495087 LRIF1 A>G	1	111495087	111495087	A	G	LRIF1	c.419T>C	NM_018372.4	NP_060842.3:p.(Val140Ala)	NC_000001.10:g.111495087A>G	VUS	1 lab	0471c36955
1:46661684 POMGNT1 C>T	1	46661684	46661684	C	T	POMGNT1	c.420G>A	NM_017739.4	NP_060209.4:p.(Thr140=)	NC_000001.10:g.46661684C>T	VUS	1 lab	04733308f9
14:75515838 MLH3 C>T	14	75515838	75515838	C	T	MLH3	c.521G>A	NM_001040108.2	NP_001035197.1:p.(Arg174Lys)	NC_000014.8:g.75515838C>T	VUS	1 lab	0473c10dd2
7:156798470 MNX1 C>A	7	156798470	156798470	C	A	MNX1	c.950G>T	NM_005515.4	NP_005506.3:p.(Gly317Val)	NC_000007.13:g.156798470C>A	VUS	1 lab	0473ceefe3
15:34113808 RYR3 C>T	15	34113808	34113808	C	T	RYR3	c.10995+5C>T	NM_001036.6	NP_001027.3:p.?	NC_000015.9:g.34113808C>T	(Likely) benign	1 lab	0474356c09
14:24709841 TINF2 C>T	14	24709841	24709841	C	T	TINF2	c.845G>A	NM_001099274.3	NP_001092744.1:p.(Arg282His)	NC_000014.8:g.24709841C>T	(Likely) pathogenic	1 lab	04755cb6f7
7:42004472 GLI3 T>TC	7	42004472	42004475	T	TC	GLI3	c.4198dup	NM_000168.6	NP_000159.3:p.(Asp1400GlyfsTer12)	NC_000007.13:g.42004475dup	(Likely) pathogenic	1 lab	0477cd81e6
19:619304 POLRMT G>A	19	619304	619304	G	A	POLRMT	c.3067-8C>T	NM_005035.4	NP_005026.3:p.?	NC_000019.9:g.619304G>A	(Likely) benign	1 lab	0479b3b18c
17:40825532 PLEKHH3 C>A	17	40825532	40825532	C	A	PLEKHH3	c.533G>T	NM_024927.5	NP_079203.4:p.(Arg178Leu)	NC_000017.10:g.40825532C>A	VUS	1 lab	0479bd2fae
11:5878609 OR52E8 G>C	11	5878609	5878609	G	C	OR52E8	c.312C>G	NM_001005168.3	NP_001005168.2:p.(Phe104Leu)	NC_000011.9:g.5878609G>C	(Likely) benign	1 lab	047b02f829
6:117201750 RFX6 C>T	6	117201750	117201750	C	T	RFX6	c.424C>T	NM_173560.4	NP_775831.2:p.(Arg142Trp)	NC_000006.11:g.117201750C>T	VUS	1 lab	047b843ac7
13:23929795 SACS T>A	13	23929795	23929795	T	A	SACS	c.956A>T	NM_014363.6	NP_055178.3:p.(Tyr319Phe)	NC_000013.10:g.23929795T>A	VUS	1 lab	047cc4fe6f
9:27056334 IFT74 A>G	9	27056334	27056334	A	G	IFT74	c.1500A>G	NM_025103.4	NP_079379.2:p.(Lys500=)	NC_000009.11:g.27056334A>G	VUS	1 lab	047d1c5420
5:36972057 NIPBL C>G	5	36972057	36972057	C	G	NIPBL	c.782C>G	NM_133433.4	NP_597677.2:p.(Ser261Cys)	NC_000005.9:g.36972057C>G	(Likely) benign	1 lab	0481b33265
2:75100989 HK2 G>A	2	75100989	75100989	G	A	HK2	c.610G>A	NM_000189.5	NP_000180.2:p.(Val204Met)	NC_000002.11:g.75100989G>A	(Likely) benign	1 lab	0481ffcde4
17:17701273 RAI1 C>T	17	17701273	17701273	C	T	RAI1	c.5011C>T	NM_030665.4	NP_109590.3:p.(His1671Tyr)	NC_000017.10:g.17701273C>T	VUS	1 lab	048202dde7
6:116442414 COL10A1 T>C	6	116442414	116442414	T	C	COL10A1	c.865A>G	NM_000493.4	NP_000484.2:p.(Ile289Val)	NC_000006.11:g.116442414T>C	(Likely) benign	1 lab	0482caeccc
1:86591567 COL24A1 G>A	1	86591567	86591567	G	A	COL24A1	c.452C>T	NM_152890.7	NP_690850.2:p.(Pro151Leu)	NC_000001.10:g.86591567G>A	(Likely) benign	1 lab	0483a357d8
16:28847304 ATXN2L T>TG	16	28847304	28847305	T	TG	ATXN2L	c.2946_2947insG	NM_007245.4	NP_009176.2:p.(Pro983AlafsTer48)	NC_000016.9:g.28847304_28847305insG	(Likely) benign	1 lab	048434bd47
5:112869987 YTHDC2 CT>C	5	112869987	112869996	CT	C	YTHDC2	c.843-6del	NM_022828.5	NP_073739.3:p.?	NC_000005.9:g.112869996del	(Likely) benign	1 lab	04853b5f6c
17:40270029 KAT2A ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG>A	17	40270029	40270091	ACTGAAGCTGAGGAGAGAGAGAGACGTCAGGGATGGGGGG	A	KAT2A	c.1181-33_1186del	NM_021078.3	NP_066564.2:p.?	NC_000017.10:g.40270053_40270091del	(Likely) benign	1 lab	04878f5b78
2:152496460 NEB G>A	2	152496460	152496460	G	A	NEB	c.8800C>T	NM_001164508.2	NP_001157980.2:p.(Arg2934Cys)	NC_000002.11:g.152496460G>A	VUS	1 lab	048c13fb0a
2:234637905 UGT1A6 C>T	2	234637905	234637905	C	T	UGT1A6	c.861+35394C>T	NM_001072.4	NP_001063.2:p.?	NC_000002.11:g.234637905C>T	(Likely) benign	1 lab	048cc1b3cc
1:19247592 IFFO2 C>T	1	19247592	19247592	C	T	IFFO2	c.689G>A	NM_001136265.2	NP_001129737.1:p.(Arg230His)	NC_000001.10:g.19247592C>T	VUS	1 lab	048d356d5b
19:56015533 SSC5D A>G	19	56015533	56015533	A	G	SSC5D	c.2785+2965A>G	NM_001144950.2	NP_001138422.1:p.?	NC_000019.9:g.56015533A>G	VUS	1 lab	048de9bb75
8:41790937 KAT6A T>C	8	41790937	41790937	T	C	KAT6A	c.4801A>G	NM_006766.5	NP_006757.2:p.(Ser1601Gly)	NC_000008.10:g.41790937T>C	(Likely) benign	1 lab	048e5f20d8
8:144994263 PLEC G>A	8	144994263	144994263	G	A	PLEC	c.9726C>T	NM_201384.3	NP_958786.1:p.(Pro3242=)	NC_000008.10:g.144994263G>A	(Likely) benign	1 lab	048ee1a316
14:76437614 TGFB3 A>G	14	76437614	76437614	A	G	TGFB3	c.517-16T>C	NM_003239.2	NP_003230.1:p.?	NC_000014.8:g.76437614A>G	(Likely) benign	1 lab	e21b15207f
X:55513410 USP51 T>A	X	55513410	55513410	T	A	USP51	c.1963A>T	NM_201286.4	NP_958443.1:p.(Ile655Phe)	NC_000023.10:g.55513410T>A	VUS	1 lab	04935addc7
16:51176002 SALL1 ACGTGGGCATCCTTG>A	16	51176002	51176017	ACGTGGGCATCCTTG	A	SALL1	c.117_130del	NM_002968.3	NP_002959.2:p.(Lys40LeufsTer10)	NC_000016.9:g.51176004_51176017del	VUS	1 lab	0493680d4a
19:17100550 CPAMD8 A>T	19	17100550	17100550	A	T	CPAMD8	c.1298T>A	NM_015692.5	NP_056507.3:p.(Val433Glu)	NC_000019.9:g.17100550A>T	(Likely) benign	1 lab	04937b8728
7:99705197 AP4M1 G>A	7	99705197	99705197	G	A	AP4M1	c.*692G>A	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99705197G>A	VUS	1 lab	049419d946
10:28149610 ODAD2 G>A	10	28149610	28149610	G	A	ODAD2	c.2965C>T	NM_018076.5	NP_060546.2:p.(Gln989Ter)	NC_000010.10:g.28149610G>A	VUS	1 lab	049430544b
19:42852466 MEGF8 G>A	19	42852466	42852466	G	A	MEGF8	c.2140G>A	NM_001271938.2	NP_001258867.1:p.(Ala714Thr)	NC_000019.9:g.42852466G>A	(Likely) benign	1 lab	0494aa1970
18:77475498 CTDP1 A>G	18	77475498	77475498	A	G	CTDP1	c.2038A>G	NM_004715.5	NP_004706.3:p.(Arg680Gly)	NC_000018.9:g.77475498A>G	VUS	1 lab	04957d4d47
6:15496969 JARID2 G>A	6	15496969	15496969	G	A	JARID2	c.1513G>A	NM_004973.4	NP_004964.2:p.(Gly505Arg)	NC_000006.11:g.15496969G>A	VUS	1 lab	049699731c
X:149931134 MTMR1 G>A	X	149931134	149931134	G	A	MTMR1	c.1954G>A	NM_001306144.3	NP_001293073.1:p.(Val652Ile)	NC_000023.10:g.149931134G>A	(Likely) benign	1 lab	049731d308
2:179571218 TTN CTT>C	2	179571218	179571220	CTT	C	TTN	c.29381_29382del	NM_001267550.2	NP_001254479.2:p.(Gln9794ArgfsTer4)	NC_000002.11:g.179571219_179571220del	VUS	1 lab	0497dc7af5
16:1258021 CACNA1H A>G	16	1258021	1258021	A	G	CACNA1H	c.3163A>G	NM_021098.3	NP_066921.2:p.(Met1055Val)	NC_000016.9:g.1258021A>G	(Likely) benign	1 lab	0498075eba
13:111109670 COL4A2 A>ACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	13	111109670	111109671	A	ACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	COL4A2	c.1340-20_1340-19insCCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109670_111109671insCCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	(Likely) benign	1 lab	049963cf56
4:154533404 TMEM131L G>A	4	154533404	154533404	G	A	TMEM131L	c.3419G>A	NM_001131007.2	NP_001124479.1:p.(Gly1140Glu)	NC_000004.11:g.154533404G>A	VUS	1 lab	0499ab8ef3
3:134256110 CEP63 G>C	3	134256110	134256110	G	C	CEP63	c.555G>C	NM_001353108.3	NP_001340037.1:p.(Gln185His)	NC_000003.11:g.134256110G>C	(Likely) benign	1 lab	049a012251
19:3595075 TBXA2R CT>C	19	3595075	3595076	CT	C	TBXA2R	c.*610del	NM_001060.6	NP_001051.1:p.?	NC_000019.9:g.3595076del	VUS	1 lab	049a8d93cf
16:50741872 NOD2 G>A	16	50741872	50741872	G	A	NOD2	c.565+1G>A	NM_001370466.1	NP_001357395.1:p.?	NC_000016.9:g.50741872G>A	VUS	1 lab	049ec776a6
15:53081177 ONECUT1 G>A	15	53081177	53081177	G	A	ONECUT1	c.905C>T	NM_004498.4	NP_004489.1:p.(Thr302Ile)	NC_000015.9:g.53081177G>A	VUS	1 lab	04a04e8869
3:134327503 KY T>A	3	134327503	134327503	T	A	KY	c.1078A>T	NM_178554.6	NP_848649.3:p.(Met360Leu)	NC_000003.11:g.134327503T>A	(Likely) benign	1 lab	04a152873a
4:88979146 PKD2 TC>T	4	88979146	88979148	TC	T	PKD2	c.1912del	NM_000297.4	NP_000288.1:p.(Arg638ValfsTer36)	NC_000004.11:g.88979148del	(Likely) pathogenic	1 lab	04a2714aff
6:152679582 SYNE1 G>T	6	152679582	152679582	G	T	SYNE1	c.10534C>A	NM_182961.4	NP_892006.3:p.(Gln3512Lys)	NC_000006.11:g.152679582G>T	VUS	1 lab	04a4b39818
X:15841230 ZRSR2 CAGCCGGAGCCGG>C	X	15841230	15841259	CAGCCGGAGCCGG	C	ZRSR2	c.1332_1343del	NM_005089.4	NP_005080.1:p.(Ser445_Arg448del)	NC_000023.10:g.15841248_15841259del	(Likely) benign	1 lab	04a55775d3
2:152411496 NEB G>A	2	152411496	152411496	G	A	NEB	c.19377C>T	NM_001164508.2	NP_001157980.2:p.(Asp6459=)	NC_000002.11:g.152411496G>A	(Likely) benign	1 lab	04a57a9ba5
1:152277391 FLG G>A	1	152277391	152277391	G	A	FLG	c.9971C>T	NM_002016.2	NP_002007.1:p.(Ser3324Leu)	NC_000001.10:g.152277391G>A	(Likely) benign	1 lab	04a59b1348
4:1348895 UVSSA C>T	4	1348895	1348895	C	T	UVSSA	c.1048-10C>T	NM_020894.4	NP_065945.2:p.?	NC_000004.11:g.1348895C>T	(Likely) benign	1 lab	04a6d097bc
4:1018118 FGFRL1 C>T	4	1018118	1018118	C	T	FGFRL1	c.738C>T	NM_001004356.3	NP_001004356.1:p.(Pro246=)	NC_000004.11:g.1018118C>T	(Likely) benign	1 lab	04a70b7067
X:128895172 XPNPEP2 G>A	X	128895172	128895172	G	A	XPNPEP2	c.1523G>A	NM_003399.6	NP_003390.4:p.(Arg508His)	NC_000023.10:g.128895172G>A	VUS	1 lab	04a7fca1a7
15:89398816 ACAN T>C	15	89398816	89398816	T	C	ACAN	c.3000T>C	NM_001369268.1	NP_001356197.1:p.(Val1000=)	NC_000015.9:g.89398816T>C	VUS	1 lab	04a8183eca
1:152193518 HRNR C>T	1	152193518	152193518	C	T	HRNR	c.587G>A	NM_001009931.3	NP_001009931.1:p.(Gly196Glu)	NC_000001.10:g.152193518C>T	VUS	1 lab	04ace36fb3
20:49551780 DPM1 T>TAA	20	49551780	49551792	T	TAA	DPM1	c.679-9_679-8dup	NM_003859.3	NP_003850.1:p.?	NC_000020.10:g.49551791_49551792dup	(Likely) benign	1 lab	04ae8be393
10:15688882 ITGA8 C>T	10	15688882	15688882	C	T	ITGA8	c.1170G>A	NM_003638.3	NP_003629.2:p.(Met390Ile)	NC_000010.10:g.15688882C>T	(Likely) benign	1 lab	04af1ef33e
2:70524452 TIMCC A>G	2	70524452	70524452	A	G	TIMCC	c.707T>C	NM_001329752.2	NP_001316681.1:p.(Met236Thr)	NC_000002.11:g.70524452A>G	(Likely) benign	1 lab	04afee7b91
17:4802067 CHRNE C>T	17	4802067	4802067	C	T	CHRNE	c.1446G>A	NM_000080.4	NP_000071.1:p.(Val482=)	NC_000017.10:g.4802067C>T	(Likely) benign	1 lab	04b08abcba
3:127642259 KBTBD12 G>A	3	127642259	127642259	G	A	KBTBD12	c.355G>A	NM_207335.4	NP_997218.2:p.(Val119Met)	NC_000003.11:g.127642259G>A	(Likely) benign	1 lab	04b2575d56
11:22271895 ANO5 T>A	11	22271895	22271895	T	A	ANO5	c.991T>A	NM_213599.3	NP_998764.1:p.(Ser331Thr)	NC_000011.9:g.22271895T>A	VUS	1 lab	04b28d5e4e
19:50823927 KCNC3 C>A	19	50823927	50823927	C	A	KCNC3	c.2093G>T	NM_004977.3	NP_004968.2:p.(Arg698Leu)	NC_000019.9:g.50823927C>A	VUS	1 lab	04b2fb8d41
11:74204372 LIPT2 A>C	11	74204372	74204372	A	C	LIPT2	c.377T>G	NM_001144869.3	NP_001138341.1:p.(Leu126Arg)	NC_000011.9:g.74204372A>C	(Likely) pathogenic	1 lab	04b4113d64
8:100732716 VPS13B AT>A	8	100732716	100732719	AT	A	VPS13B	c.6804del	NM_152564.5	NP_689777.3:p.(Phe2268LeufsTer24)	NC_000008.10:g.100732719del	(Likely) pathogenic	1 lab	04b4d96992
1:236154330 NID1 G>T	1	236154330	236154330	G	T	NID1	c.2784C>A	NM_002508.3	NP_002499.2:p.(His928Gln)	NC_000001.10:g.236154330G>T	(Likely) benign	1 lab	04b7bcb3c8
14:105418637 AHNAK2 C>G	14	105418637	105418637	C	G	AHNAK2	c.3151G>C	NM_138420.4	NP_612429.2:p.(Ala1051Pro)	NC_000014.8:g.105418637C>G	VUS	1 lab	04b8f3d7b9
19:18054118 CCDC124 A>G	19	18054118	18054118	A	G	CCDC124	c.398A>G	NM_001136203.2	NP_001129675.1:p.(Asn133Ser)	NC_000019.9:g.18054118A>G	VUS	1 lab	04b90261de
19:46205068 QPCTL A>G	19	46205068	46205068	A	G	QPCTL	c.899A>G	NM_017659.4	NP_060129.2:p.(His300Arg)	NC_000019.9:g.46205068A>G	(Likely) benign	1 lab	04bc4f3fa0
16:9916303 GRIN2A A>AAG	16	9916303	9916313	A	AAG	GRIN2A	c.2008-24_2008-23dup	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9916312_9916313dup	(Likely) benign	1 lab	19d66c6f35
9:135947034 CEL G>A	9	135947034	135947034	G	A	CEL	c.2145G>A	NM_001807.6	NP_001798.3:p.(Pro715=)	NC_000009.11:g.135947034G>A	(Likely) benign	1 lab	04c0ddefd9
11:10800617 CTR9 A>G	11	10800617	10800617	A	G	CTR9	c.3487A>G	NM_014633.5	NP_055448.1:p.(Arg1163Gly)	NC_000011.9:g.10800617A>G	VUS	1 lab	04c123876b
7:154561237 DPP6 A>G	7	154561237	154561237	A	G	DPP6	c.994A>G	NM_130797.4	NP_570629.2:p.(Thr332Ala)	NC_000007.13:g.154561237A>G	VUS	1 lab	04c1d3c4b9
19:39406753 SARS2 T>C	19	39406753	39406753	T	C	SARS2	c.1271A>G	NM_017827.4	NP_060297.1:p.(Asn424Ser)	NC_000019.9:g.39406753T>C	VUS	1 lab	04c1f81118
X:26235776 MAGEB5 AGGATTCAT>A	X	26235776	26235785	AGGATTCAT	A	MAGEB5	c.360_367del	NM_001271752.1	NP_001258681.1:p.(Arg120SerfsTer41)	NC_000023.10:g.26235778_26235785del	VUS	1 lab	04c2e80e5b
7:139662032 TBXAS1 C>T	7	139662032	139662032	C	T	TBXAS1	c.1134C>T	NM_001061.7	NP_001052.3:p.(His378=)	NC_000007.13:g.139662032C>T	(Likely) benign	1 lab	04c3c77f10
5:170725849 RANBP17 A>T	5	170725849	170725849	A	T	RANBP17	c.3254A>T	NM_022897.5	NP_075048.1:p.(Asp1085Val)	NC_000005.9:g.170725849A>T	VUS	1 lab	04c4a16f2a
14:105677490 BRF1 G>A	14	105677490	105677490	G	A	BRF1	c.1965C>T	NM_001519.4	NP_001510.2:p.(Cys655=)	NC_000014.8:g.105677490G>A	(Likely) benign	1 lab	04c5478086
1:229567269 ACTA1 T>A	1	229567269	229567269	T	A	ACTA1	c.1111A>T	NM_001100.4	NP_001091.1:p.(Ile371Phe)	NC_000001.10:g.229567269T>A	(Likely) pathogenic	1 lab	04c55527a0
7:101821870 CUX1 G>A	7	101821870	101821870	G	A	CUX1	c.950G>A	NM_181552.4	NP_853530.2:p.(Arg317Gln)	NC_000007.13:g.101821870G>A	VUS	1 lab	04c75cbaa8
8:144997295 PLEC C>T	8	144997295	144997295	C	T	PLEC	c.6802G>A	NM_201384.3	NP_958786.1:p.(Glu2268Lys)	NC_000008.10:g.144997295C>T	VUS	1 lab	04c778fff3
1:6273207 RNF207 G>A	1	6273207	6273207	G	A	RNF207	c.1616G>A	NM_207396.3	NP_997279.2:p.(Arg539His)	NC_000001.10:g.6273207G>A	(Likely) benign	1 lab	e282f48dbf
22:42628599 TCF20 C>T	22	42628599	42628599	C	T	TCF20	c.-36-17252G>A	NM_001378418.1	NP_001365347.1:p.?	NC_000022.10:g.42628599C>T	(Likely) benign	1 lab	04c80b50e6
7:107188782 COG5 G>A	7	107188782	107188782	G	A	COG5	c.293-5C>T	NM_006348.5	NP_006339.4:p.?	NC_000007.13:g.107188782G>A	(Likely) benign	1 lab	04deb583a3
X:153070102 PDZD4 G>C	X	153070102	153070102	G	C	PDZD4	c.1034C>G	NM_001303512.2	NP_001290441.1:p.(Ala345Gly)	NC_000023.10:g.153070102G>C	(Likely) benign	1 lab	04c8308929
6:74516631 CD109 G>A	6	74516631	74516631	G	A	CD109	c.3025G>A	NM_133493.5	NP_598000.2:p.(Val1009Met)	NC_000006.11:g.74516631G>A	(Likely) benign	1 lab	04c9518323
1:158913582 PYHIN1 A>G	1	158913582	158913582	A	G	PYHIN1	c.1005A>G	NM_152501.5	NP_689714.2:p.(Lys335=)	NC_000001.10:g.158913582A>G	(Likely) benign	1 lab	04cbdf38e2
20:44519557 NEURL2 C>T	20	44519557	44519557	C	T	NEURL2	c.74G>A	NM_080749.4	NP_542787.1:p.(Arg25His)	NC_000020.10:g.44519557C>T	VUS	1 lab	04cd38ba40
8:77764357 ZFHX4 C>A	8	77764357	77764357	C	A	ZFHX4	c.5200C>A	NM_024721.5	NP_078997.4:p.(Gln1734Lys)	NC_000008.10:g.77764357C>A	VUS	1 lab	04d065d3a3
6:51613131 PKHD1 C>G	6	51613131	51613131	C	G	PKHD1	c.9283G>C	NM_138694.4	NP_619639.3:p.(Val3095Leu)	NC_000006.11:g.51613131C>G	VUS	1 lab	04d076d52d
9:130940775 CIZ1 A>G	9	130940775	130940775	A	G	CIZ1	c.1499-6T>C	NM_001131016.2	NP_001124488.1:p.?	NC_000009.11:g.130940775A>G	VUS	1 lab	04d0e1453f
1:29527025 MECR T>TA	1	29527025	29527026	T	TA	MECR	c.830+2dup	NM_016011.5	NP_057095.4:p.?	NC_000001.10:g.29527026dup	(Likely) pathogenic	1 lab	04d1146904
3:189607146 TP63 C>T	3	189607146	189607146	C	T	TP63	c.1525C>T	NM_003722.5	NP_003713.3:p.(His509Tyr)	NC_000003.11:g.189607146C>T	VUS	1 lab	04d201d3c7
7:31008707 GHRHR T>G	7	31008707	31008707	T	G	GHRHR	c.190T>G	NM_000823.4	NP_000814.2:p.(Cys64Gly)	NC_000007.13:g.31008707T>G	(Likely) pathogenic	1 lab	04d34be947
4:108911116 HADH C>T	4	108911116	108911116	C	T	HADH	c.28C>T	NM_005327.7	NP_005318.6:p.(Arg10Cys)	NC_000004.11:g.108911116C>T	VUS	1 lab	04d7dffc49
5:112163610 APC T>C	5	112163610	112163610	T	C	APC	c.1549-16T>C	NM_000038.6	NP_000029.2:p.?	NC_000005.9:g.112163610T>C	(Likely) benign	1 lab	04dc1de789
16:1815179 MAPK8IP3 G>C	16	1815179	1815179	G	C	MAPK8IP3	c.2446G>C	NM_001318852.2	NP_001305781.1:p.(Ala816Pro)	NC_000016.9:g.1815179G>C	(Likely) benign	1 lab	04ded35924
1:145015877 PDE4DIP G>T	1	145015877	145015877	G	T	PDE4DIP	c.211C>A	NM_001395426.1	NP_001382355.1:p.(Leu71Ile)	NC_000001.10:g.145015877G>T	VUS	1 lab	04e0af33b5
1:36824429 STK40 G>A	1	36824429	36824429	G	A	STK40	c.113-6C>T	NM_001282547.2	NP_001269476.1:p.?	NC_000001.10:g.36824429G>A	(Likely) benign	1 lab	04e1fcdb1e
19:11312638 DOCK6 C>T	19	11312638	11312638	C	T	DOCK6	c.5615G>A	NM_020812.4	NP_065863.2:p.(Arg1872His)	NC_000019.9:g.11312638C>T	VUS	1 lab	04e263d1c1
2:27121449 DPYSL5 G>A	2	27121449	27121449	G	A	DPYSL5	c.82G>A	NM_020134.4	NP_064519.2:p.(Val28Ile)	NC_000002.11:g.27121449G>A	(Likely) benign	1 lab	04e3c6a3c3
11:105842717 GRIA4 G>A	11	105842717	105842717	G	A	GRIA4	c.2371G>A	NM_000829.4	NP_000820.4:p.(Asp791Asn)	NC_000011.9:g.105842717G>A	VUS	1 lab	04e3d8eea1
14:45644706 FANCM A>G	14	45644706	45644706	A	G	FANCM	c.2749A>G	NM_020937.4	NP_065988.1:p.(Ile917Val)	NC_000014.8:g.45644706A>G	(Likely) benign	1 lab	04e494b525
19:42373296 RPS19 AG>A	19	42373296	42373303	AG	A	RPS19	c.356+19del	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42373303del	(Likely) benign	1 lab	04e55eefdb
15:99500622 IGF1R G>A	15	99500622	99500622	G	A	IGF1R	c.4055G>A	NM_000875.5	NP_000866.1:p.(Gly1352Asp)	NC_000015.9:g.99500622G>A	VUS	1 lab	04e63f5148
8:144998557 PLEC C>T	8	144998557	144998557	C	T	PLEC	c.5540G>A	NM_201384.3	NP_958786.1:p.(Arg1847Gln)	NC_000008.10:g.144998557C>T	VUS	1 lab	04e6f5fd07
20:43047106 HNF4A C>T	20	43047106	43047106	C	T	HNF4A	c.690C>T	NM_000457.5	NP_000448.3:p.(Leu230=)	NC_000020.10:g.43047106C>T	VUS	1 lab	04e710e941
21:47565871 FTCD G>A	21	47565871	47565871	G	A	FTCD	c.969-10C>T	NM_206965.2	NP_996848.1:p.?	NC_000021.8:g.47565871G>A	(Likely) benign	1 lab	04e7833ed1
17:57758283 CLTC C>T	17	57758283	57758283	C	T	CLTC	c.2930C>T	NM_004859.4	NP_004850.1:p.(Thr977Ile)	NC_000017.10:g.57758283C>T	VUS	1 lab	04e7f6a861
10:87615842 GRID1 G>A	10	87615842	87615842	G	A	GRID1	c.1057C>T	NM_017551.3	NP_060021.1:p.(Arg353Trp)	NC_000010.10:g.87615842G>A	VUS	1 lab	04e8ff4d1e
19:50412178 NUP62 G>A	19	50412178	50412178	G	A	NUP62	c.887C>T	NM_016553.5	NP_057637.2:p.(Pro296Leu)	NC_000019.9:g.50412178G>A	(Likely) benign	1 lab	04e991cb0b
1:11168265 MTOR T>G	1	11168265	11168265	T	G	MTOR	c.7607A>C	NM_004958.4	NP_004949.1:p.(Glu2536Ala)	NC_000001.10:g.11168265T>G	(Likely) benign	1 lab	04ea73c453
16:88505256 ZNF469 C>T	16	88505256	88505256	C	T	ZNF469	c.11378C>T	NM_001367624.2	NP_001354553.1:p.(Pro3793Leu)	NC_000016.9:g.88505256C>T	VUS	1 lab	04ea8faaf3
6:45390430 RUNX2 A>ACAGCAGCAGCAGCAACAGCAG	6	45390430	45390484	A	ACAGCAGCAGCAGCAACAGCAG	RUNX2	c.193_213dup	NM_001024630.4	NP_001019801.3:p.(Gln65_Gln71dup)	NC_000006.11:g.45390464_45390484dup	(Likely) benign	1 lab	04ec0a351f
4:39226503 WDR19 G>T	4	39226503	39226503	G	T	WDR19	c.1480-1G>T	NM_025132.4	NP_079408.3:p.?	NC_000004.11:g.39226503G>T	(Likely) benign	1 lab	04ed27763d
6:33132181 COL11A2 C>A	6	33132181	33132181	C	A	COL11A2	c.4933G>T	NM_080680.3	NP_542411.2:p.(Val1645Phe)	NC_000006.11:g.33132181C>A	VUS	1 lab	04ed46a2cf
22:42486736 NDUFA6 C>A	22	42486736	42486736	C	A	NDUFA6	c.13G>T	NM_002490.6	NP_002481.3:p.(Gly5Cys)	NC_000022.10:g.42486736C>A	VUS	1 lab	04eea9311d
19:47876169 DHX34 G>A	19	47876169	47876169	G	A	DHX34	c.1951G>A	NM_014681.6	NP_055496.2:p.(Ala651Thr)	NC_000019.9:g.47876169G>A	(Likely) benign	1 lab	04eec6729a
11:58920299 FAM111A AATAG>A	11	58920299	58920307	AATAG	A	FAM111A	c.1163_1166del	NM_001312909.2	NP_001299838.1:p.(Asp388AlafsTer7)	NC_000011.9:g.58920304_58920307del	VUS	1 lab	04ef2effa0
18:42618581 SETBP1 T>G	18	42618581	42618581	T	G	SETBP1	c.4132T>G	NM_015559.3	NP_056374.2:p.(Leu1378Val)	NC_000018.9:g.42618581T>G	(Likely) benign	1 lab	04f32cb056
15:89401940 ACAN G>A	15	89401940	89401940	G	A	ACAN	c.6124G>A	NM_001369268.1	NP_001356197.1:p.(Val2042Met)	NC_000015.9:g.89401940G>A	(Likely) benign	1 lab	04f38f31f8
2:74328078 TET3 G>A	2	74328078	74328078	G	A	TET3	c.4163G>A	NM_001287491.2	NP_001274420.1:p.(Ser1388Asn)	NC_000002.11:g.74328078G>A	VUS	1 lab	04f53c2037
1:27878569 AHDC1 C>T	1	27878569	27878569	C	T	AHDC1	c.58G>A	NM_001371928.1	NP_001358857.1:p.(Asp20Asn)	NC_000001.10:g.27878569C>T	VUS	1 lab	04f7366b5e
X:54209501 FAM120C G>T	X	54209501	54209501	G	T	FAM120C	c.131C>A	NM_017848.6	NP_060318.4:p.(Pro44Gln)	NC_000023.10:g.54209501G>T	VUS	1 lab	04f8fa9cab
14:24731097 TGM1 GA>G	14	24731097	24731098	GA	G	TGM1	c.320-9del	NM_000359.3	NP_000350.1:p.?	NC_000014.8:g.24731098del	(Likely) pathogenic	1 lab	197ba2e25f
11:66282016 BBS1 G>A	11	66282016	66282016	G	A	BBS1	c.299G>A	NM_024649.5	NP_078925.3:p.(Arg100Gln)	NC_000011.9:g.66282016G>A	VUS	1 lab	04fa1a6aa5
8:42297000 SLC20A2 G>A	8	42297000	42297000	G	A	SLC20A2	c.902C>T	NM_001257180.2	NP_001244109.1:p.(Thr301Ile)	NC_000008.10:g.42297000G>A	VUS	1 lab	04fa8d5f25
7:6064384 EIF2AK1 C>T	7	6064384	6064384	C	T	EIF2AK1	c.1813G>A	NM_014413.4	NP_055228.2:p.(Ala605Thr)	NC_000007.13:g.6064384C>T	(Likely) benign	1 lab	04faa7d45d
5:14487776 TRIO C>T	5	14487776	14487776	C	T	TRIO	c.7039C>T	NM_007118.4	NP_009049.2:p.(His2347Tyr)	NC_000005.9:g.14487776C>T	(Likely) benign	1 lab	04fc0ddb1b
18:31320372 ASXL3 C>T	18	31320372	31320372	C	T	ASXL3	c.3004C>T	NM_030632.3	NP_085135.1:p.(Pro1002Ser)	NC_000018.9:g.31320372C>T	VUS	1 lab	04fc764cfa
7:99695787 MCM7 T>C	7	99695787	99695787	T	C	MCM7	c.847A>G	NM_005916.5	NP_005907.3:p.(Thr283Ala)	NC_000007.13:g.99695787T>C	(Likely) benign	1 lab	04fc90ad35
10:17087074 CUBN C>A	10	17087074	17087074	C	A	CUBN	c.3604G>T	NM_001081.3	NP_001072.2:p.(Ala1202Ser)	NC_000010.10:g.17087074C>A	(Likely) benign	1 lab	19dd1a1c11
2:179412616 TTN T>C	2	179412616	179412616	T	C	TTN	c.93737A>G	NM_001267550.2	NP_001254479.2:p.(Lys31246Arg)	NC_000002.11:g.179412616T>C	VUS	1 lab	04ff94aa7f
20:5282973 PROKR2 G>A	20	5282973	5282973	G	A	PROKR2	c.868C>T	NM_144773.4	NP_658986.1:p.(Pro290Ser)	NC_000020.10:g.5282973G>A	(Likely) pathogenic	1 lab	04ffe08540
17:78091475 GAA A>G	17	78091475	78091475	A	G	GAA	c.2408A>G	NM_000152.5	NP_000143.2:p.(Gln803Arg)	NC_000017.10:g.78091475A>G	VUS	1 lab	0500c1d9f0
4:55127460 PDGFRA C>T	4	55127460	55127460	C	T	PDGFRA	c.248C>T	NM_006206.6	NP_006197.1:p.(Thr83Met)	NC_000004.11:g.55127460C>T	VUS	1 lab	0501154d89
7:20449523 ITGB8 GCA>G	7	20449523	20449527	GCA	G	ITGB8	c.2216_2217del	NM_002214.3	NP_002205.1:p.(Thr739LysfsTer8)	NC_000007.13:g.20449526_20449527del	VUS	1 lab	0501a55735
10:73572203 CDH23 CTCCCTCCCCACCCTTT>C	10	73572203	73572229	CTCCCTCCCCACCCTTT	C	CDH23	c.9381-23_9381-8del	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73572214_73572229del	VUS	1 lab	050327f4af
2:159922488 TANC1 G>C	2	159922488	159922488	G	C	TANC1	c.61+5G>C	NM_033394.3	NP_203752.2:p.?	NC_000002.11:g.159922488G>C	(Likely) benign	1 lab	050335a830
X:48825549 KCND1 C>A	X	48825549	48825549	C	A	KCND1	c.1121+9G>T	NM_004979.6	NP_004970.3:p.?	NC_000023.10:g.48825549C>A	(Likely) benign	1 lab	05035375ea
8:74893380 TMEM70 TCCCA>T	8	74893380	74893384	TCCCA	T	TMEM70	c.317-9_317-6del	NM_017866.6	NP_060336.3:p.?	NC_000008.10:g.74893381_74893384del	(Likely) benign	1 lab	050355199b
16:3139289 ZSCAN10 C>T	16	3139289	3139289	C	T	ZSCAN10	c.2146G>A	NM_032805.3	NP_116194.2:p.(Gly716Arg)	NC_000016.9:g.3139289C>T	(Likely) benign	1 lab	05046a5704
5:36118018 LMBRD2 T>G	5	36118018	36118018	T	G	LMBRD2	c.1121A>C	NM_001007527.2	NP_001007528.1:p.(Glu374Ala)	NC_000005.9:g.36118018T>G	VUS	1 lab	0506cc8466
16:11439389 RMI2 C>A	16	11439389	11439389	C	A	RMI2	c.61C>A	NM_152308.3	NP_689521.1:p.(Pro21Thr)	NC_000016.9:g.11439389C>A	VUS	1 lab	2a111ab9c1
7:31016035 GHRHR T>C	7	31016035	31016035	T	C	GHRHR	c.975-9T>C	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31016035T>C	(Likely) benign	1 lab	050738a8f4
X:41200755 DDX3X G>A	X	41200755	41200755	G	A	DDX3X	c.170G>A	NM_001356.5	NP_001347.3:p.(Ser57Asn)	NC_000023.10:g.41200755G>A	(Likely) benign	1 lab	05076b9431
16:88902143 GALNS G>A	16	88902143	88902143	G	A	GALNS	c.748C>T	NM_000512.5	NP_000503.1:p.(Gln250Ter)	NC_000016.9:g.88902143G>A	(Likely) pathogenic	1 lab	05093f2b21
7:98515054 TRRAP A>G	7	98515054	98515054	A	G	TRRAP	c.2374A>G	NM_001375524.1	NP_001362453.1:p.(Met792Val)	NC_000007.13:g.98515054A>G	VUS	1 lab	050cda798a
17:48434445 XYLT2 C>A	17	48434445	48434445	C	A	XYLT2	c.1773C>A	NM_022167.4	NP_071450.2:p.(Ser591Arg)	NC_000017.10:g.48434445C>A	VUS	1 lab	050dfc46c6
X:69640029 KIF4A G>C	X	69640029	69640029	G	C	KIF4A	c.3613G>C	NM_012310.5	NP_036442.3:p.(Ala1205Pro)	NC_000023.10:g.69640029G>C	VUS	1 lab	0510693ee3
9:139396224 NOTCH1 T>C	9	139396224	139396224	T	C	NOTCH1	c.5614A>G	NM_017617.5	NP_060087.3:p.(Met1872Val)	NC_000009.11:g.139396224T>C	(Likely) benign	1 lab	051125588b
7:138239586 TRIM24 C>T	7	138239586	138239586	C	T	TRIM24	c.1405C>T	NM_015905.3	NP_056989.2:p.(Arg469Trp)	NC_000007.13:g.138239586C>T	VUS	1 lab	05116d97a0
19:49472804 GYS1 G>A	19	49472804	49472804	G	A	GYS1	c.1955C>T	NM_002103.5	NP_002094.2:p.(Ser652Phe)	NC_000019.9:g.49472804G>A	VUS	1 lab	051174b0f7
16:20801945 ACSM3 CAAG>C	16	20801945	20801951	CAAG	C	ACSM3	c.1265_1267del	NM_005622.4	NP_005613.2:p.(Glu422del)	NC_000016.9:g.20801949_20801951del	(Likely) benign	1 lab	051323016d
19:19774135 ATP13A1 G>A	19	19774135	19774135	G	A	ATP13A1	c.341C>T	NM_020410.3	NP_065143.2:p.(Thr114Ile)	NC_000019.9:g.19774135G>A	VUS	1 lab	0515cd5288
2:74143897 ACTG2 G>C	2	74143897	74143897	G	C	ACTG2	c.987+5G>C	NM_001615.4	NP_001606.1:p.?	NC_000002.11:g.74143897G>C	VUS	1 lab	05169c5c78
14:65237631 SPTB G>A	14	65237631	65237631	G	A	SPTB	c.5770C>T	NM_001355436.2	NP_001342365.1:p.(Arg1924Trp)	NC_000014.8:g.65237631G>A	(Likely) benign	1 lab	051b1704b6
3:140397373 TRIM42 TC>T	3	140397373	140397374	TC	T	TRIM42	c.303del	NM_152616.5	NP_689829.3:p.(Thr102LeufsTer30)	NC_000003.11:g.140397374del	VUS	1 lab	051b31bbeb
19:42790970 CIC T>G	19	42790970	42790970	T	G	CIC	c.2842T>G	NM_001386298.1	NP_001373227.1:p.(Ser948Ala)	NC_000019.9:g.42790970T>G	(Likely) benign	1 lab	051b783979
15:34160031 AVEN T>G	15	34160031	34160031	T	G	AVEN	c.638A>C	NM_020371.3	NP_065104.1:p.(Gln213Pro)	NC_000015.9:g.34160031T>G	(Likely) benign	1 lab	051c543bf0
1:173797447 DARS2 C>CT	1	173797447	173797451	C	CT	DARS2	c.228-20dup	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173797451dup	(Likely) benign	1 lab	051c7524cf
2:182542923 NEUROD1 T>A	2	182542923	182542923	T	A	NEUROD1	c.665A>T	NM_002500.5	NP_002491.3:p.(Gln222Leu)	NC_000002.11:g.182542923T>A	(Likely) benign	1 lab	051cce550a
2:220352984 SPEG C>T	2	220352984	220352984	C	T	SPEG	c.7810C>T	NM_005876.5	NP_005867.3:p.(Leu2604Phe)	NC_000002.11:g.220352984C>T	(Likely) benign	1 lab	051f5bdefb
19:42486176 ATP1A3 G>T	19	42486176	42486176	G	T	ATP1A3	c.1076C>A	NM_152296.5	NP_689509.1:p.(Ser359Tyr)	NC_000019.9:g.42486176G>T	(Likely) pathogenic	1 lab	0520a51059
4:3076632 HTT AGCAGCAGCAGCAGCAGCAGCAGCAG>A	4	3076632	3076657	AGCAGCAGCAGCAGCAGCAGCAGCAG	A	HTT	c.81_105del	NM_001388492.1	NP_001375421.1:p.(Gln27HisfsTer66)	NC_000004.11:g.3076633_3076657del	VUS	1 lab	0520f6db94
7:100799970 AP1S1 C>T	7	100799970	100799970	C	T	AP1S1	c.99C>T	NM_001283.5	NP_001274.1:p.(Arg33=)	NC_000007.13:g.100799970C>T	(Likely) benign	1 lab	052224814d
6:15496952 JARID2 C>T	6	15496952	15496952	C	T	JARID2	c.1496C>T	NM_004973.4	NP_004964.2:p.(Pro499Leu)	NC_000006.11:g.15496952C>T	(Likely) benign	1 lab	052265bee1
13:32805419 FRY T>C	13	32805419	32805419	T	C	FRY	c.5509T>C	NM_023037.3	NP_075463.2:p.(Phe1837Leu)	NC_000013.10:g.32805419T>C	VUS	1 lab	0522664979
1:52850397 ORC1 G>C	1	52850397	52850397	G	C	ORC1	c.1584-4C>G	NM_004153.4	NP_004144.2:p.?	NC_000001.10:g.52850397G>C	(Likely) benign	1 lab	0522ac3011
6:56505161 DST C>A	6	56505161	56505161	C	A	DST	c.2270G>T	NM_001374736.1	NP_001361665.1:p.(Arg757Leu)	NC_000006.11:g.56505161C>A	(Likely) benign	1 lab	0524863a99
12:121437065 HNF1A G>A	12	121437065	121437065	G	A	HNF1A	c.1502-6G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121437065G>A	(Likely) pathogenic	1 lab	0526631595
6:161560624 AGPAT4 G>A	6	161560624	161560624	G	A	AGPAT4	c.872C>T	NM_020133.3	NP_064518.1:p.(Thr291Met)	NC_000006.11:g.161560624G>A	VUS	1 lab	05278dba9c
17:42334888 SLC4A1 A>G	17	42334888	42334888	A	G	SLC4A1	c.1456T>C	NM_000342.4	NP_000333.1:p.(Tyr486His)	NC_000017.10:g.42334888A>G	(Likely) pathogenic	1 lab	05282179da
4:187549809 FAT1 T>C	4	187549809	187549809	T	C	FAT1	c.4432A>G	NM_005245.4	NP_005236.2:p.(Ile1478Val)	NC_000004.11:g.187549809T>C	(Likely) benign	1 lab	052a5548cd
19:6230661 MLLT1 C>A	19	6230661	6230661	C	A	MLLT1	c.340G>T	NM_005934.4	NP_005925.2:p.(Val114Leu)	NC_000019.9:g.6230661C>A	VUS	1 lab	052ac1af43
11:102819854 MMP13 A>C	11	102819854	102819854	A	C	MMP13	c.951T>G	NM_002427.4	NP_002418.1:p.(Asp317Glu)	NC_000011.9:g.102819854A>C	(Likely) benign	1 lab	052c0dd3f2
4:10079449 WDR1 G>A	4	10079449	10079449	G	A	WDR1	c.1497C>T	NM_017491.5	NP_059830.1:p.(His499=)	NC_000004.11:g.10079449G>A	(Likely) benign	1 lab	19e1e1ab3d
10:100219314 HPSE2 G>A	10	100219314	100219314	G	A	HPSE2	c.*219C>T	NM_001166246.1	NP_001159718.1:p.?	NC_000010.10:g.100219314G>A	(Likely) benign	1 lab	197fc5ca88
1:179852117 TOR1AIP1 G>A	1	179852117	179852117	G	A	TOR1AIP1	c.475+5G>A	NM_015602.4	NP_056417.2:p.?	NC_000001.10:g.179852117G>A	VUS	1 lab	052cbb944a
1:237016320 MTR C>A	1	237016320	237016320	C	A	MTR	c.1885C>A	NM_000254.3	NP_000245.2:p.(Gln629Lys)	NC_000001.10:g.237016320C>A	VUS	1 lab	052fa72122
X:73962408 NEXMIF C>T	X	73962408	73962408	C	T	NEXMIF	c.1984G>A	NM_001008537.3	NP_001008537.1:p.(Ala662Thr)	NC_000023.10:g.73962408C>T	VUS	1 lab	0530b117f6
X:114537865 LUZP4 G>T	X	114537865	114537865	G	T	LUZP4	c.224G>T	NM_016383.5	NP_057467.1:p.(Gly75Val)	NC_000023.10:g.114537865G>T	VUS	1 lab	0530c02093
14:105236689 AKT1 C>T	14	105236689	105236689	C	T	AKT1	c.1432G>A	NM_001382430.1	NP_001369359.1:p.(Gly478Ser)	NC_000014.8:g.105236689C>T	VUS	1 lab	05321aa60f
16:20970634 DNAH3 T>C	16	20970634	20970634	T	C	DNAH3	c.10555A>G	NM_001347886.2	NP_001334815.1:p.(Met3519Val)	NC_000016.9:g.20970634T>C	VUS	1 lab	0532dd1d56
3:45500343 LARS2 A>G	3	45500343	45500343	A	G	LARS2	c.715A>G	NM_015340.4	NP_056155.1:p.(Arg239Gly)	NC_000003.11:g.45500343A>G	VUS	1 lab	0533731256
22:21369577 P2RX6 G>A	22	21369577	21369577	G	A	P2RX6	c.114G>A	NM_005446.5	NP_005437.2:p.(Val38=)	NC_000022.10:g.21369577G>A	VUS	1 lab	0539964fbd
16:1257299 CACNA1H G>A	16	1257299	1257299	G	A	CACNA1H	c.2932G>A	NM_021098.3	NP_066921.2:p.(Val978Met)	NC_000016.9:g.1257299G>A	(Likely) benign	1 lab	053cf234b5
14:31552855 AP4S1 T>A	14	31552855	31552855	T	A	AP4S1	c.306+3065T>A	NM_001128126.3	NP_001121598.1:p.?	NC_000014.8:g.31552855T>A	VUS	1 lab	053e0c9dac
7:6080777 EIF2AK1 C>A	7	6080777	6080777	C	A	EIF2AK1	c.865G>T	NM_014413.4	NP_055228.2:p.(Glu289Ter)	NC_000007.13:g.6080777C>A	VUS	1 lab	053f466b96
2:182542657 NEUROD1 C>T	2	182542657	182542657	C	T	NEUROD1	c.931G>A	NM_002500.5	NP_002491.3:p.(Ala311Thr)	NC_000002.11:g.182542657C>T	(Likely) benign	1 lab	054aebca6d
10:23482699 PTF1A C>A	10	23482699	23482699	C	A	PTF1A	c.851C>A	NM_178161.3	NP_835455.1:p.(Thr284Asn)	NC_000010.10:g.23482699C>A	VUS	1 lab	054c951c8e
5:138658658 MATR3 T>TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	5	138658658	138658659	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	MATR3	c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	NM_018834.6	NP_061322.2:p.?	NC_000005.9:g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAA	VUS	1 lab	054019efea
1:114193676 MAGI3 A>C	1	114193676	114193676	A	C	MAGI3	c.2288A>C	NM_001142782.2	NP_001136254.1:p.(Lys763Thr)	NC_000001.10:g.114193676A>C	VUS	1 lab	054054a842
6:52869987 CILK1 C>T	6	52869987	52869987	C	T	CILK1	c.1859G>A	NM_014920.5	NP_055735.1:p.(Gly620Asp)	NC_000006.11:g.52869987C>T	VUS	1 lab	0540fbab30
1:27023376 ARID1A TCGCCGC>T	1	27023376	27023388	TCGCCGC	T	ARID1A	c.489_494del	NM_006015.6	NP_006006.3:p.(Ala166_Ala167del)	NC_000001.10:g.27023383_27023388del	(Likely) benign	1 lab	054132344b
2:228148498 COL4A3 T>C	2	228148498	228148498	T	C	COL4A3	c.2672T>C	NM_000091.5	NP_000082.2:p.(Ile891Thr)	NC_000002.11:g.228148498T>C	(Likely) benign	1 lab	0542810d28
20:62305313 RTEL1 G>A	20	62305313	62305313	G	A	RTEL1	c.786G>A	NM_001283009.2	NP_001269938.1:p.(Ser262=)	NC_000020.10:g.62305313G>A	(Likely) benign	1 lab	054283c388
12:49432774 KMT2D T>C	12	49432774	49432774	T	C	KMT2D	c.8367-2A>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49432774T>C	(Likely) pathogenic	1 lab	05441597f5
3:183396993 KLHL24 G>T	3	183396993	183396993	G	T	KLHL24	c.1722G>T	NM_017644.3	NP_060114.2:p.(Gly574=)	NC_000003.11:g.183396993G>T	(Likely) benign	1 lab	19e6efcdf6
20:33872191 EIF6 A>G	20	33872191	33872191	A	G	EIF6	c.100T>C	NM_002212.4	NP_002203.1:p.(Phe34Leu)	NC_000020.10:g.33872191A>G	(Likely) benign	1 lab	0546fd00e1
1:237947504 RYR2 G>A	1	237947504	237947504	G	A	RYR2	c.12492G>A	NM_001035.3	NP_001026.2:p.(Gln4164=)	NC_000001.10:g.237947504G>A	(Likely) benign	1 lab	19e7024ec0
7:75610861 POR G>A	7	75610861	75610861	G	A	POR	c.668G>A	NM_000941.3	NP_000932.3:p.(Arg223Gln)	NC_000007.13:g.75610861G>A	VUS	1 lab	05477010a0
14:92472245 TRIP11 T>C	14	92472245	92472245	T	C	TRIP11	c.2075A>G	NM_004239.4	NP_004230.2:p.(Gln692Arg)	NC_000014.8:g.92472245T>C	VUS	1 lab	0548e8da19
16:89805636 FANCA C>T	16	89805636	89805636	C	T	FANCA	c.4072G>A	NM_000135.4	NP_000126.2:p.(Val1358Met)	NC_000016.9:g.89805636C>T	VUS	1 lab	054ab9537f
5:140789185 PCDHGB4 G>T	5	140789185	140789185	G	T	PCDHGB4	c.2397+19337G>T	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140789185G>T	VUS	1 lab	054d167cbc
11:17436131 ABCC8 G>A	11	17436131	17436131	G	A	ABCC8	c.2318C>T	NM_000352.6	NP_000343.2:p.(Ser773Leu)	NC_000011.9:g.17436131G>A	VUS	1 lab	054f3cbf6c
19:1080896 ARHGAP45 C>A	19	1080896	1080896	C	A	ARHGAP45	c.2023C>A	NM_012292.5	NP_036424.2:p.(Leu675Ile)	NC_000019.9:g.1080896C>A	VUS	1 lab	054fb718ef
5:13692202 DNAH5 T>C	5	13692202	13692202	T	C	DNAH5	c.13766A>G	NM_001369.3	NP_001360.1:p.(Lys4589Arg)	NC_000005.9:g.13692202T>C	VUS	1 lab	054fc3437e
2:48040926 FBXO11 A>C	2	48040926	48040926	A	C	FBXO11	c.2083+4T>G	NM_001190274.2	NP_001177203.1:p.?	NC_000002.11:g.48040926A>C	(Likely) benign	1 lab	05506f3196
11:95825755 MAML2 G>C	11	95825755	95825755	G	C	MAML2	c.1440C>G	NM_032427.4	NP_115803.1:p.(Ile480Met)	NC_000011.9:g.95825755G>C	(Likely) benign	1 lab	0550c4f93f
19:56173901 U2AF2 C>A	19	56173901	56173901	C	A	U2AF2	c.520C>A	NM_007279.3	NP_009210.1:p.(Arg174Ser)	NC_000019.9:g.56173901C>A	(Likely) benign	1 lab	055125d87c
11:57571227 CTNND1 C>T	11	57571227	57571227	C	T	CTNND1	c.1555C>T	NM_001085458.2	NP_001078927.1:p.(Arg519Cys)	NC_000011.9:g.57571227C>T	(Likely) benign	1 lab	0551c2219c
9:138661894 KCNT1 C>T	9	138661894	138661894	C	T	KCNT1	c.1612C>T	NM_020822.3	NP_065873.2:p.(Arg538Cys)	NC_000009.11:g.138661894C>T	VUS	1 lab	0551dffebd
1:144886332 PDE4DIP A>G	1	144886332	144886332	A	G	PDE4DIP	c.3103-3T>C	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144886332A>G	(Likely) benign	1 lab	0553386565
19:9005588 MUC16 G>T	19	9005588	9005588	G	T	MUC16	c.42344C>A	NM_001401501.2	NP_001388430.1:p.(Thr14115Asn)	NC_000019.9:g.9005588G>T	VUS	1 lab	0555215477
2:179631265 TTN A>G	2	179631265	179631265	A	G	TTN	c.9546T>C	NM_001267550.2	NP_001254479.2:p.(Asp3182=)	NC_000002.11:g.179631265A>G	(Likely) benign	1 lab	1983b634ff
4:6303329 WFS1 G>A	4	6303329	6303329	G	A	WFS1	c.1807G>A	NM_006005.3	NP_005996.2:p.(Val603Ile)	NC_000004.11:g.6303329G>A	VUS	1 lab	055999da74
2:183866906 NCKAP1 T>C	2	183866906	183866906	T	C	NCKAP1	c.461A>G	NM_013436.5	NP_038464.1:p.(Lys154Arg)	NC_000002.11:g.183866906T>C	(Likely) benign	1 lab	0559a4f8ca
19:38948277 RYR1 C>T	19	38948277	38948277	C	T	RYR1	c.1925+7C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38948277C>T	(Likely) benign	1 lab	0559a7fe69
2:233348884 ECEL1 G>A	2	233348884	233348884	G	A	ECEL1	c.1234C>T	NM_004826.4	NP_004817.2:p.(His412Tyr)	NC_000002.11:g.233348884G>A	VUS	1 lab	0559b9b38d
7:92765186 SAMD9L G>T	7	92765186	92765186	G	T	SAMD9L	c.99C>A	NM_152703.5	NP_689916.2:p.(Tyr33Ter)	NC_000007.13:g.92765186G>T	VUS	1 lab	055a5ba284
17:61613365 KCNH6 C>T	17	61613365	61613365	C	T	KCNH6	c.1437C>T	NM_001278919.2	NP_001265848.1:p.(Phe479=)	NC_000017.10:g.61613365C>T	(Likely) benign	1 lab	055a825a4b
14:63473120 KCNH5 A>G	14	63473120	63473120	A	G	KCNH5	c.268T>C	NM_139318.5	NP_647479.2:p.(Ser90Pro)	NC_000014.8:g.63473120A>G	VUS	1 lab	055d0d1f18
10:61830951 ANK3 G>A	10	61830951	61830951	G	A	ANK3	c.9688C>T	NM_020987.5	NP_066267.2:p.(Arg3230Cys)	NC_000010.10:g.61830951G>A	VUS	1 lab	055f0dca95
20:57899485 EDN3 C>T	20	57899485	57899485	C	T	EDN3	c.688C>T	NM_207034.3	NP_996917.1:p.(Arg230Cys)	NC_000020.10:g.57899485C>T	VUS	1 lab	055f2c848c
X:151123432 GABRE G>A	X	151123432	151123432	G	A	GABRE	c.1262C>T	NM_004961.4	NP_004952.2:p.(Pro421Leu)	NC_000023.10:g.151123432G>A	(Likely) benign	1 lab	05621a1711
1:19488344 UBR4 C>G	1	19488344	19488344	C	G	UBR4	c.5004G>C	NM_020765.3	NP_065816.2:p.(Gln1668His)	NC_000001.10:g.19488344C>G	VUS	1 lab	0562bbee11
11:92525926 FAT3 C>G	11	92525926	92525926	C	G	FAT3	c.4612-7C>G	NM_001367949.2	NP_001354878.1:p.?	NC_000011.9:g.92525926C>G	VUS	1 lab	0562d1e157
7:44187375 GCK C>T	7	44187375	44187375	C	T	GCK	c.737G>A	NM_000162.5	NP_000153.1:p.(Gly246Glu)	NC_000007.13:g.44187375C>T	(Likely) pathogenic	1 lab	0563af6204
22:50962381 SCO2 C>T	22	50962381	50962381	C	T	SCO2	c.460G>A	NM_005138.3	NP_005129.2:p.(Glu154Lys)	NC_000022.10:g.50962381C>T	VUS	1 lab	0564224f01
20:25397816 GINS1 C>A	20	25397816	25397816	C	A	GINS1	c.217C>A	NM_021067.5	NP_066545.3:p.(Arg73=)	NC_000020.10:g.25397816C>A	VUS	1 lab	05657da944
3:119327648 PLA1A A>G	3	119327648	119327648	A	G	PLA1A	c.307A>G	NM_015900.4	NP_056984.1:p.(Thr103Ala)	NC_000003.11:g.119327648A>G	(Likely) benign	1 lab	05665435f4
5:37158326 CPLANE1 C>A	5	37158326	37158326	C	A	CPLANE1	c.7812G>T	NM_001384732.1	NP_001371661.1:p.(Leu2604Phe)	NC_000005.9:g.37158326C>A	(Likely) benign	1 lab	0566b8f081
2:179417999 TTN A>C	2	179417999	179417999	A	C	TTN	c.89628T>G	NM_001267550.2	NP_001254479.2:p.(Asp29876Glu)	NC_000002.11:g.179417999A>C	VUS	1 lab	0567d5bc6d
17:41365196 TMEM106A G>A	17	41365196	41365196	G	A	TMEM106A	c.136G>A	NM_145041.4	NP_659478.1:p.(Val46Met)	NC_000017.10:g.41365196G>A	(Likely) benign	1 lab	0568bda10d
5:132228002 AFF4 G>A	5	132228002	132228002	G	A	AFF4	c.2491C>T	NM_014423.4	NP_055238.1:p.(Arg831Trp)	NC_000005.9:g.132228002G>A	(Likely) benign	1 lab	056917d6e0
5:147470791 SPINK5 G>T	5	147470791	147470791	G	T	SPINK5	c.666G>T	NM_006846.4	NP_006837.2:p.(Lys222Asn)	NC_000005.9:g.147470791G>T	VUS	1 lab	056980f39d
2:240981418 MISSING T>G	2	240981418	240981418	T	G	MISSING				NC_000002.11:g.240981418T>G	VUS	1 lab	0569c6b82b
14:51411070 PYGL C>T	14	51411070	51411070	C	T	PYGL	c.52G>A	NM_002863.5	NP_002854.3:p.(Gly18Ser)	NC_000014.8:g.51411070C>T	VUS	1 lab	056a24a058
5:42719117 GHR C>CG	5	42719117	42719120	C	CG	GHR	c.1511dup	NM_000163.5	NP_000154.1:p.(Gln505ProfsTer4)	NC_000005.9:g.42719120dup	(Likely) pathogenic	1 lab	056b6deb93
4:15005228 CPEB2 C>G	4	15005228	15005228	C	G	CPEB2	c.931C>G	NM_001177382.2	NP_001170853.1:p.(Pro311Ala)	NC_000004.11:g.15005228C>G	VUS	1 lab	056bc504ff
17:7752543 KDM6B TCAG>T	17	7752543	7752546	TCAG	T	KDM6B	c.2938_2940del	NM_001348716.2	NP_001335645.1:p.(Gln980del)	NC_000017.10:g.7752544_7752546del	(Likely) benign	1 lab	056bd4a413
7:69364345 AUTS2 C>T	7	69364345	69364345	C	T	AUTS2	c.383C>T	NM_015570.4	NP_056385.1:p.(Ala128Val)	NC_000007.13:g.69364345C>T	VUS	1 lab	056cb1a484
20:18541374 SEC23B G>C	20	18541374	18541374	G	C	SEC23B	c.2294G>C	NM_006363.6	NP_006354.2:p.(Ser765Thr)	NC_000020.10:g.18541374G>C	(Likely) benign	1 lab	056e80998f
16:1793383 MAPK8IP3 C>G	16	1793383	1793383	C	G	MAPK8IP3	c.653C>G	NM_001318852.2	NP_001305781.1:p.(Thr218Arg)	NC_000016.9:g.1793383C>G	(Likely) benign	1 lab	057003c7a0
3:44955174 TGM4 T>C	3	44955174	44955174	T	C	TGM4	c.2012T>C	NM_003241.4	NP_003232.2:p.(Val671Ala)	NC_000003.11:g.44955174T>C	VUS	1 lab	05719ae38d
3:122284891 DTX3L A>G	3	122284891	122284891	A	G	DTX3L	c.373A>G	NM_138287.3	NP_612144.1:p.(Asn125Asp)	NC_000003.11:g.122284891A>G	(Likely) benign	1 lab	05730b97e7
2:179547619 TTN T>C	2	179547619	179547619	T	C	TTN	c.32899A>G	NM_001267550.2	NP_001254479.2:p.(Met10967Val)	NC_000002.11:g.179547619T>C	(Likely) benign	1 lab	0573284b17
X:9864443 SHROOM2 C>T	X	9864443	9864443	C	T	SHROOM2	c.2495C>T	NM_001649.4	NP_001640.1:p.(Ala832Val)	NC_000023.10:g.9864443C>T	(Likely) benign	1 lab	05736d43ea
11:86782635 TMEM135 A>T	11	86782635	86782635	A	T	TMEM135	c.340A>T	NM_022918.4	NP_075069.3:p.(Ile114Phe)	NC_000011.9:g.86782635A>T	VUS	1 lab	057376ff48
X:153063890 SSR4 G>A	X	153063890	153063890	G	A	SSR4	c.*2G>A	NM_001204526.1	NP_001191455.1:p.?	NC_000023.10:g.153063890G>A	VUS	1 lab	198522db76
16:17232324 XYLT1 C>T	16	17232324	17232324	C	T	XYLT1	c.1652G>A	NM_022166.4	NP_071449.1:p.(Arg551His)	NC_000016.9:g.17232324C>T	VUS	1 lab	05767df46c
9:131355258 SPTAN1 G>T	9	131355258	131355258	G	T	SPTAN1	c.3156-4G>T	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131355258G>T	VUS	1 lab	0576962b45
16:2159321 PKD1 G>A	16	2159321	2159321	G	A	PKD1	c.5847C>T	NM_001009944.3	NP_001009944.3:p.(Ser1949=)	NC_000016.9:g.2159321G>A	(Likely) benign	1 lab	0577fcaeb5
2:220354279 SPEG C>T	2	220354279	220354279	C	T	SPEG	c.8539C>T	NM_005876.5	NP_005867.3:p.(Arg2847Ter)	NC_000002.11:g.220354279C>T	(Likely) pathogenic	1 lab	05788332ad
14:36155837 RALGAPA1 G>C	14	36155837	36155837	G	C	RALGAPA1	c.3988C>G	NM_001346249.2	NP_001333178.1:p.(Leu1330Val)	NC_000014.8:g.36155837G>C	VUS	1 lab	0579b7d255
6:117198585 RFX6 C>G	6	117198585	117198585	C	G	RFX6	c.147C>G	NM_173560.4	NP_775831.2:p.(Ala49=)	NC_000006.11:g.117198585C>G	(Likely) benign	1 lab	057aac9862
8:27362598 EPHX2 A>G	8	27362598	27362598	A	G	EPHX2	c.472A>G	NM_001979.6	NP_001970.2:p.(Met158Val)	NC_000008.10:g.27362598A>G	(Likely) benign	1 lab	057ad607ac
1:11194509 MTOR C>G	1	11194509	11194509	C	G	MTOR	c.5145G>C	NM_004958.4	NP_004949.1:p.(Gln1715His)	NC_000001.10:g.11194509C>G	(Likely) benign	1 lab	057cce9f73
19:1397378 GAMT G>A	19	1397378	1397378	G	A	GAMT	c.691C>T	NM_000156.6	NP_000147.1:p.(Pro231Ser)	NC_000019.9:g.1397378G>A	VUS	1 lab	057da1efab
4:121961159 NDNF G>A	4	121961159	121961159	G	A	NDNF	c.239C>T	NM_024574.4	NP_078850.3:p.(Thr80Met)	NC_000004.11:g.121961159G>A	(Likely) benign	1 lab	057e9123ca
2:220077779 ABCB6 G>T	2	220077779	220077779	G	T	ABCB6	c.1814C>A	NM_005689.4	NP_005680.1:p.(Thr605Asn)	NC_000002.11:g.220077779G>T	(Likely) benign	1 lab	057fa190bc
17:7977031 ALOX12B C>T	17	7977031	7977031	C	T	ALOX12B	c.1699G>A	NM_001139.3	NP_001130.1:p.(Val567Ile)	NC_000017.10:g.7977031C>T	(Likely) benign	1 lab	058013383d
22:19385542 HIRA C>T	22	19385542	19385542	C	T	HIRA	c.466G>A	NM_003325.4	NP_003316.3:p.(Val156Ile)	NC_000022.10:g.19385542C>T	(Likely) benign	1 lab	05809d0ce8
9:134385421 POMT1 G>A	9	134385421	134385421	G	A	POMT1	c.699+38G>A	NM_001077365.2	NP_001070833.1:p.?	NC_000009.11:g.134385421G>A	(Likely) benign	1 lab	05819bf8b4
3:158408032 GFM1 G>A	3	158408032	158408032	G	A	GFM1	c.1990G>A	NM_024996.7	NP_079272.4:p.(Val664Ile)	NC_000003.11:g.158408032G>A	(Likely) benign	1 lab	0581f5ed77
16:15814061 MYH11 C>T	16	15814061	15814061	C	T	MYH11	c.4900G>A	NM_002474.3	NP_002465.1:p.(Asp1634Asn)	NC_000016.9:g.15814061C>T	VUS	1 lab	05823e595c
11:46917868 LRP4 A>G	11	46917868	46917868	A	G	LRP4	c.941T>C	NM_002334.4	NP_002325.2:p.(Leu314Ser)	NC_000011.9:g.46917868A>G	(Likely) benign	1 lab	0583a151af
5:138661870 MATR3 C>T	5	138661870	138661870	C	T	MATR3	c.2390C>T	NM_018834.6	NP_061322.2:p.(Pro797Leu)	NC_000005.9:g.138661870C>T	VUS	1 lab	05855d1778
4:56262467 TMEM165 A>C	4	56262467	56262467	A	C	TMEM165	c.111A>C	NM_018475.5	NP_060945.2:p.(Glu37Asp)	NC_000004.11:g.56262467A>C	VUS	1 lab	0586ddd810
11:76954901 GDPD4 G>A	11	76954901	76954901	G	A	GDPD4	c.1087-8C>T	NM_182833.3	NP_878253.1:p.?	NC_000011.9:g.76954901G>A	(Likely) benign	1 lab	0587e196d9
15:99500474 IGF1R G>A	15	99500474	99500474	G	A	IGF1R	c.3907G>A	NM_000875.5	NP_000866.1:p.(Val1303Ile)	NC_000015.9:g.99500474G>A	(Likely) benign	1 lab	0587f00401
9:140126116 SLC34A3 A>C	9	140126116	140126116	A	C	SLC34A3	c.-39A>C	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140126116A>C	VUS	1 lab	0588fc66b6
2:219677644 CYP27A1 C>T	2	219677644	219677644	C	T	CYP27A1	c.845-3C>T	NM_000784.4	NP_000775.1:p.?	NC_000002.11:g.219677644C>T	VUS	1 lab	058a327336
17:60062113 MED13 G>A	17	60062113	60062113	G	A	MED13	c.2590C>T	NM_005121.3	NP_005112.2:p.(Pro864Ser)	NC_000017.10:g.60062113G>A	(Likely) benign	1 lab	058b45a80e
4:88977390 PKD2 C>G	4	88977390	88977390	C	G	PKD2	c.1869C>G	NM_000297.4	NP_000288.1:p.(Val623=)	NC_000004.11:g.88977390C>G	(Likely) benign	1 lab	058bc3c04a
6:170871099 TBP AGC>A	6	170871099	170871101	AGC	A	TBP	c.276_277del	NM_003194.5	NP_003185.1:p.(Gln93AlafsTer84)	NC_000006.11:g.170871100_170871101del	VUS	1 lab	058f74e88a
15:59494583 MYO1E G>A	15	59494583	59494583	G	A	MYO1E	c.1640C>T	NM_004998.3	NP_004989.2:p.(Pro547Leu)	NC_000015.9:g.59494583G>A	VUS	1 lab	19e9827c67
20:43031214 HNF4A C>T	20	43031214	43031214	C	T	HNF4A	c.115+1087C>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43031214C>T	(Likely) benign	1 lab	05921ae246
5:149497415 PDGFRB T>G	5	149497415	149497415	T	G	PDGFRB	c.2905-2A>C	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149497415T>G	VUS	1 lab	05925e0366
7:104746457 KMT2E T>C	7	104746457	104746457	T	C	KMT2E	c.2596+7T>C	NM_182931.3	NP_891847.1:p.?	NC_000007.13:g.104746457T>C	(Likely) benign	1 lab	05930d823d
16:75663431 KARS1 G>A	16	75663431	75663431	G	A	KARS1	c.1433C>T	NM_005548.3	NP_005539.1:p.(Ser478Phe)	NC_000016.9:g.75663431G>A	VUS	1 lab	0593584906
4:1795199 FGFR3 G>T	4	1795199	1795199	G	T	FGFR3	c.-103+7G>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1795199G>T	(Likely) benign	1 lab	059410782f
12:89745557 DUSP6 G>A	12	89745557	89745557	G	A	DUSP6	c.260C>T	NM_001946.4	NP_001937.2:p.(Thr87Ile)	NC_000012.11:g.89745557G>A	(Likely) benign	1 lab	19e9e2554b
9:138713799 CAMSAP1 G>A	9	138713799	138713799	G	A	CAMSAP1	c.2708C>T	NM_015447.4	NP_056262.3:p.(Ser903Leu)	NC_000009.11:g.138713799G>A	VUS	1 lab	059749bc0b
22:28196164 MN1 G>A	22	28196164	28196164	G	A	MN1	c.368C>T	NM_002430.3	NP_002421.3:p.(Pro123Leu)	NC_000022.10:g.28196164G>A	VUS	1 lab	0597854efd
2:47702261 MSH2 T>A	2	47702261	47702261	T	A	MSH2	c.1857T>A	NM_000251.3	NP_000242.1:p.(Tyr619Ter)	NC_000002.11:g.47702261T>A	(Likely) pathogenic	1 lab	059801bd73
9:79325556 PRUNE2 T>A	9	79325556	79325556	T	A	PRUNE2	c.1634A>T	NM_015225.3	NP_056040.2:p.(Asn545Ile)	NC_000009.11:g.79325556T>A	(Likely) benign	1 lab	05986d1902
12:14772207 GUCY2C G>A	12	14772207	14772207	G	A	GUCY2C	c.2813C>T	NM_004963.4	NP_004954.2:p.(Pro938Leu)	NC_000012.11:g.14772207G>A	VUS	1 lab	05987eb13c
4:73930626 COX18 C>T	4	73930626	73930626	C	T	COX18	c.599-7G>A	NM_001297732.2	NP_001284661.1:p.?	NC_000004.11:g.73930626C>T	(Likely) benign	1 lab	05988d043f
19:50912440 POLD1 C>T	19	50912440	50912440	C	T	POLD1	c.1954C>T	NM_002691.4	NP_002682.2:p.(Arg652Trp)	NC_000019.9:g.50912440C>T	VUS	1 lab	059a1eb49c
17:71281936 CDC42EP4 C>T	17	71281936	71281936	C	T	CDC42EP4	c.704G>A	NM_012121.5	NP_036253.2:p.(Gly235Glu)	NC_000017.10:g.71281936C>T	VUS	1 lab	059b791206
1:40229443 BMP8B C>T	1	40229443	40229443	C	T	BMP8B	c.889G>A	NM_001720.5	NP_001711.2:p.(Gly297Ser)	NC_000001.10:g.40229443C>T	(Likely) benign	1 lab	059c5c7478
5:112177801 APC A>C	5	112177801	112177801	A	C	APC	c.6510A>C	NM_000038.6	NP_000029.2:p.(Pro2170=)	NC_000005.9:g.112177801A>C	(Likely) benign	1 lab	059e103800
2:179592068 TTN G>C	2	179592068	179592068	G	C	TTN	c.20024C>G	NM_001267550.2	NP_001254479.2:p.(Ala6675Gly)	NC_000002.11:g.179592068G>C	(Likely) benign	1 lab	059ed7db37
9:139091565 LHX3 C>A	9	139091565	139091565	C	A	LHX3	c.413G>T	NM_178138.6	NP_835258.1:p.(Arg138Leu)	NC_000009.11:g.139091565C>A	VUS	1 lab	059f59d0b4
15:43028813 CDAN1 G>A	15	43028813	43028813	G	A	CDAN1	c.256C>T	NM_138477.4	NP_612486.2:p.(Pro86Ser)	NC_000015.9:g.43028813G>A	VUS	1 lab	059f7eec6f
X:20195141 RPS6KA3 A>G	X	20195141	20195141	A	G	RPS6KA3	c.907T>C	NM_004586.3	NP_004577.1:p.(Phe303Leu)	NC_000023.10:g.20195141A>G	VUS	1 lab	198f87f2c0
16:19083410 COQ7 C>T	16	19083410	19083410	C	T	COQ7	c.234C>T	NM_016138.5	NP_057222.2:p.(Ser78=)	NC_000016.9:g.19083410C>T	(Likely) benign	1 lab	19ea4612a1
5:150844170 SLC36A1 G>A	5	150844170	150844170	G	A	SLC36A1	c.323+7G>A	NM_078483.4	NP_510968.2:p.?	NC_000005.9:g.150844170G>A	(Likely) benign	1 lab	05a2979d2f
2:48936142 LHCGR G>A	2	48936142	48936142	G	A	LHCGR	c.625C>T	NM_000233.4	NP_000224.2:p.(His209Tyr)	NC_000002.11:g.48936142G>A	VUS	1 lab	05a4541469
17:41215386 BRCA1 C>A	17	41215386	41215386	C	A	BRCA1	c.5157G>T	NM_007294.4	NP_009225.1:p.(Val1719=)	NC_000017.10:g.41215386C>A	(Likely) benign	1 lab	05a52b5a09
10:124248468 HTRA1 G>A	10	124248468	124248468	G	A	HTRA1	c.523G>A	NM_002775.5	NP_002766.1:p.(Val175Met)	NC_000010.10:g.124248468G>A	(Likely) pathogenic	1 lab	05a5766778
22:50682554 TUBGCP6 T>C	22	50682554	50682554	T	C	TUBGCP6	c.335A>G	NM_020461.4	NP_065194.3:p.(Asp112Gly)	NC_000022.10:g.50682554T>C	VUS	1 lab	05a680625d
6:105573424 POPDC1 C>T	6	105573424	105573424	C	T	POPDC1	c.381G>A	NM_001199563.2	NP_001186492.1:p.(Met127Ile)	NC_000006.11:g.105573424C>T	(Likely) benign	1 lab	05a6d7a3de
1:180240605 LHX4 A>G	1	180240605	180240605	A	G	LHX4	c.542A>G	NM_033343.4	NP_203129.1:p.(Lys181Arg)	NC_000001.10:g.180240605A>G	VUS	1 lab	05a8bf0eb7
5:161317927 GABRA1 C>T	5	161317927	161317927	C	T	GABRA1	c.727C>T	NM_001127644.2	NP_001121116.1:p.(His243Tyr)	NC_000005.9:g.161317927C>T	(Likely) benign	1 lab	05a8f31b43
1:201185609 IGFN1 T>C	1	201185609	201185609	T	C	IGFN1	c.9323T>C	NM_001164586.2	NP_001158058.1:p.(Met3108Thr)	NC_000001.10:g.201185609T>C	(Likely) benign	1 lab	05a914a484
1:152284605 FLG ATG>A	1	152284605	152284607	ATG	A	FLG	c.2755_2756del	NM_002016.2	NP_002007.1:p.(His919CysfsTer5)	NC_000001.10:g.152284606_152284607del	(Likely) benign	1 lab	05a9c74856
1:162749984 DDR2 G>A	1	162749984	162749984	G	A	DDR2	c.2516G>A	NM_006182.4	NP_006173.2:p.(Arg839His)	NC_000001.10:g.162749984G>A	VUS	1 lab	05ab9bbcb3
12:49436854 KMT2D C>T	12	49436854	49436854	C	T	KMT2D	c.5644+5G>A	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49436854C>T	(Likely) benign	1 lab	05abbc3064
12:6166235 VWF C>T	12	6166235	6166235	C	T	VWF	c.1733G>A	NM_000552.5	NP_000543.3:p.(Arg578Lys)	NC_000012.11:g.6166235C>T	VUS	1 lab	05ae597f78
2:234377098 DGKD G>C	2	234377098	234377098	G	C	DGKD	c.3454G>C	NM_152879.3	NP_690618.2:p.(Ala1152Pro)	NC_000002.11:g.234377098G>C	(Likely) benign	1 lab	05b198e940
3:186917455 RTP1 AG>A	3	186917455	186917456	AG	A	RTP1	c.390del	NM_153708.3	NP_714919.2:p.(Gln130HisfsTer122)	NC_000003.11:g.186917456del	VUS	1 lab	05b3276417
7:151944797 KMT2C A>G	7	151944797	151944797	A	G	KMT2C	c.2532+190T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944797A>G	(Likely) benign	1 lab	05b3c6cd18
6:116441846 COL10A1 G>A	6	116441846	116441846	G	A	COL10A1	c.1433C>T	NM_000493.4	NP_000484.2:p.(Ala478Val)	NC_000006.11:g.116441846G>A	VUS	1 lab	05b69792eb
4:9784658 DRD5 C>A	4	9784658	9784658	C	A	DRD5	c.1005C>A	NM_000798.5	NP_000789.1:p.(Cys335Ter)	NC_000004.11:g.9784658C>A	(Likely) benign	1 lab	05b852c26a
2:196723524 DNAH7 C>T	2	196723524	196723524	C	T	DNAH7	c.7741G>A	NM_018897.3	NP_061720.2:p.(Val2581Ile)	NC_000002.11:g.196723524C>T	(Likely) benign	1 lab	05b9080bbc
5:140772659 PCDHGB4 G>C	5	140772659	140772659	G	C	PCDHGB4	c.2397+2811G>C	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140772659G>C	VUS	1 lab	05b9f6ebce
2:152580847 NEB T>C	2	152580847	152580847	T	C	NEB	c.539A>G	NM_001164508.2	NP_001157980.2:p.(Lys180Arg)	NC_000002.11:g.152580847T>C	VUS	1 lab	05bbccbc8f
10:13702454 FRMD4A G>A	10	13702454	13702454	G	A	FRMD4A	c.1760C>T	NM_018027.5	NP_060497.3:p.(Ser587Phe)	NC_000010.10:g.13702454G>A	(Likely) benign	1 lab	05bbddca44
1:35485056 ZMYM6 G>A	1	35485056	35485056	G	A	ZMYM6	c.326C>T	NM_007167.4	NP_009098.3:p.(Thr109Ile)	NC_000001.10:g.35485056G>A	(Likely) benign	1 lab	05bfbb6ea7
1:31414837 PUM1 T>A	1	31414837	31414837	T	A	PUM1	c.3120+8A>T	NM_001020658.2	NP_001018494.1:p.?	NC_000001.10:g.31414837T>A	VUS	1 lab	05c244e79b
3:30686271 TGFBR2 G>T	3	30686271	30686271	G	T	TGFBR2	c.127G>T	NM_003242.6	NP_003233.4:p.(Gly43Cys)	NC_000003.11:g.30686271G>T	VUS	1 lab	05c331dce6
7:1784831 ELFN1 G>A	7	1784831	1784831	G	A	ELFN1	c.599G>A	NM_001128636.4	NP_001122108.1:p.(Gly200Asp)	NC_000007.13:g.1784831G>A	VUS	1 lab	05c34b5be2
8:11666224 FDFT1 CT>C	8	11666224	11666225	CT	C	FDFT1	c.100-78del	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666225del	VUS	1 lab	05c384d1c0
1:39913743 MACF1 A>C	1	39913743	39913743	A	C	MACF1	c.20007A>C	NM_001394062.1	NP_001380991.1:p.(Glu6669Asp)	NC_000001.10:g.39913743A>C	VUS	1 lab	05c38f288e
1:154573673 ADAR A>G	1	154573673	154573673	A	G	ADAR	c.1445T>C	NM_001111.5	NP_001102.3:p.(Phe482Ser)	NC_000001.10:g.154573673A>G	VUS	1 lab	05c4487256
22:51135983 SHANK3 A>G	22	51135983	51135983	A	G	SHANK3	c.1567-2A>G	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51135983A>G	VUS	1 lab	05c70d119a
6:51613372 PKHD1 C>G	6	51613372	51613372	C	G	PKHD1	c.9042G>C	NM_138694.4	NP_619639.3:p.(Trp3014Cys)	NC_000006.11:g.51613372C>G	(Likely) benign	1 lab	05c749dfb9
1:220276854 IARS2 C>T	1	220276854	220276854	C	T	IARS2	c.1016C>T	NM_018060.4	NP_060530.3:p.(Ser339Phe)	NC_000001.10:g.220276854C>T	VUS	1 lab	05c98a12df
17:73626921 RECQL5 T>TGG	17	73626921	73626933	T	TGG	RECQL5	c.1586-6_1586-5dup	NM_004259.7	NP_004250.4:p.?	NC_000017.10:g.73626932_73626933dup	(Likely) benign	1 lab	05cbb8df0a
2:163133270 IFIH1 A>G	2	163133270	163133270	A	G	IFIH1	c.2231T>C	NM_022168.4	NP_071451.2:p.(Phe744Ser)	NC_000002.11:g.163133270A>G	VUS	1 lab	05cbe3b92b
12:53453215 TNS2 G>A	12	53453215	53453215	G	A	TNS2	c.1790G>A	NM_170754.4	NP_736610.2:p.(Gly597Asp)	NC_000012.11:g.53453215G>A	(Likely) benign	1 lab	05ccd913c8
2:27529106 TRIM54 C>G	2	27529106	27529106	C	G	TRIM54	c.892C>G	NM_187841.3	NP_912730.2:p.(Leu298Val)	NC_000002.11:g.27529106C>G	(Likely) benign	1 lab	05cde0fe48
6:19838436 ID4 C>T	6	19838436	19838436	C	T	ID4	c.441+10C>T	NM_001546.4	NP_001537.1:p.?	NC_000006.11:g.19838436C>T	VUS	1 lab	05d1f2e669
7:151875100 KMT2C T>TTAA	7	151875100	151875101	T	TTAA	KMT2C	c.7443-6_7443-5insTTA	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875100_151875101insTAA	(Likely) benign	1 lab	05d2274fb9
X:51638243 MAGED1 C>G	X	51638243	51638243	C	G	MAGED1	c.140C>G	NM_006986.4	NP_008917.3:p.(Ala47Gly)	NC_000023.10:g.51638243C>G	VUS	1 lab	05d3266571
13:49796181 MLNR G>T	13	49796181	49796181	G	T	MLNR	c.907G>T	NM_001507.1	NP_001498.1:p.(Val303Leu)	NC_000013.10:g.49796181G>T	(Likely) benign	1 lab	05d810ec24
14:21762866 RPGRIP1 G>A	14	21762866	21762866	G	A	RPGRIP1	c.116G>A	NM_020366.4	NP_065099.3:p.(Ser39Asn)	NC_000014.8:g.21762866G>A	VUS	1 lab	05d84f6310
11:17498263 ABCC8 C>T	11	17498263	17498263	C	T	ABCC8	c.61G>A	NM_000352.6	NP_000343.2:p.(Val21Ile)	NC_000011.9:g.17498263C>T	VUS	1 lab	05d9a4d6f7
16:1270435 CACNA1H C>G	16	1270435	1270435	C	G	CACNA1H	c.6503C>G	NM_021098.3	NP_066921.2:p.(Ala2168Gly)	NC_000016.9:g.1270435C>G	VUS	1 lab	05d9da7e97
X:129159042 BCORL1 G>A	X	129159042	129159042	G	A	BCORL1	c.3766G>A	NM_021946.5	NP_068765.3:p.(Glu1256Lys)	NC_000023.10:g.129159042G>A	VUS	1 lab	1990925d22
11:57563080 CTNND1 C>T	11	57563080	57563080	C	T	CTNND1	c.299C>T	NM_001085458.2	NP_001078927.1:p.(Pro100Leu)	NC_000011.9:g.57563080C>T	(Likely) benign	1 lab	05daa46505
17:78261978 RNF213 T>A	17	78261978	78261978	T	A	RNF213	c.626T>A	NM_001256071.3	NP_001243000.2:p.(Ile209Asn)	NC_000017.10:g.78261978T>A	(Likely) benign	1 lab	05df659e00
X:32834578 DMD T>A	X	32834578	32834578	T	A	DMD	c.530+7A>T	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32834578T>A	(Likely) benign	1 lab	065aa1eb15
16:88873893 CDT1 A>ACGTGCAGGGCGGGGTGAAGGGG	16	88873893	88873924	A	ACGTGCAGGGCGGGGTGAAGGGG	CDT1	c.1477+13_1477+34dup	NM_030928.4	NP_112190.2:p.?	NC_000016.9:g.88873903_88873924dup	(Likely) benign	1 lab	05dfcb5177
4:6303071 WFS1 C>T	4	6303071	6303071	C	T	WFS1	c.1549C>T	NM_006005.3	NP_005996.2:p.(Arg517Cys)	NC_000004.11:g.6303071C>T	VUS	1 lab	05e14bbe13
1:100347219 AGL C>T	1	100347219	100347219	C	T	AGL	c.2280C>T	NM_000642.3	NP_000633.2:p.(Ser760=)	NC_000001.10:g.100347219C>T	(Likely) benign	1 lab	05e4b7acb9
20:2443363 SNRPB G>A	20	2443363	2443363	G	A	SNRPB	c.604C>T	NM_003091.4	NP_003082.1:p.(Pro202Ser)	NC_000020.10:g.2443363G>A	(Likely) benign	1 lab	05e51ab4cf
11:4107887 STIM1 C>T	11	4107887	4107887	C	T	STIM1	c.1634+114C>T	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4107887C>T	VUS	1 lab	05e544b41f
3:44332378 TOPAZ1 G>A	3	44332378	44332378	G	A	TOPAZ1	c.3797G>A	NM_001145030.2	NP_001138502.1:p.(Arg1266Lys)	NC_000003.11:g.44332378G>A	VUS	1 lab	05e6f54085
16:2159323 PKD1 TCAC>T	16	2159323	2159329	TCAC	T	PKD1	c.5842_5844del	NM_001009944.3	NP_001009944.3:p.(Val1948del)	NC_000016.9:g.2159327_2159329del	VUS	1 lab	05e7de7226
19:4817165 TICAM1 C>T	19	4817165	4817165	C	T	TICAM1	c.1225G>A	NM_182919.4	NP_891549.1:p.(Ala409Thr)	NC_000019.9:g.4817165C>T	VUS	1 lab	05e82f7f43
X:153588203 FLNA G>C	X	153588203	153588203	G	C	FLNA	c.3876C>G	NM_001110556.2	NP_001104026.1:p.(His1292Gln)	NC_000023.10:g.153588203G>C	VUS	1 lab	05e89c8238
2:141108442 LRP1B G>C	2	141108442	141108442	G	C	LRP1B	c.11816C>G	NM_018557.3	NP_061027.2:p.(Thr3939Ser)	NC_000002.11:g.141108442G>C	VUS	1 lab	05f811740d
9:711149 KANK1 C>T	9	711149	711149	C	T	KANK1	c.383C>T	NM_015158.5	NP_055973.2:p.(Ser128Leu)	NC_000009.11:g.711149C>T	VUS	1 lab	061f4427f5
13:111109670 COL4A2 A>ACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	13	111109670	111109671	A	ACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	COL4A2	c.1340-20_1340-19insCCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109670_111109671insCCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCC	(Likely) benign	1 lab	05e9f66d7a
1:32098120 PEF1 T>C	1	32098120	32098120	T	C	PEF1	c.601A>G	NM_012392.4	NP_036524.1:p.(Ile201Val)	NC_000001.10:g.32098120T>C	VUS	1 lab	067d7843ba
2:179549989 TTN G>T	2	179549989	179549989	G	T	TTN	c.32461C>A	NM_001267550.2	NP_001254479.2:p.(Pro10821Thr)	NC_000002.11:g.179549989G>T	VUS	1 lab	05ed2f1dbc
5:149509505 PDGFRB A>G	5	149509505	149509505	A	G	PDGFRB	c.1394T>C	NM_002609.4	NP_002600.1:p.(Leu465Pro)	NC_000005.9:g.149509505A>G	(Likely) benign	1 lab	05eda7ba85
5:156899342 NIPAL4 T>A	5	156899342	156899342	T	A	NIPAL4	c.589T>A	NM_001099287.2	NP_001092757.2:p.(Phe197Ile)	NC_000005.9:g.156899342T>A	VUS	1 lab	05ef8b1367
11:46726595 ZNF408 C>T	11	46726595	46726595	C	T	ZNF408	c.1345C>T	NM_024741.3	NP_079017.1:p.(Arg449Trp)	NC_000011.9:g.46726595C>T	VUS	1 lab	05f06a9946
11:111839368 DIXDC1 T>C	11	111839368	111839368	T	C	DIXDC1	c.316+6T>C	NM_001037954.4	NP_001033043.1:p.?	NC_000011.9:g.111839368T>C	VUS	1 lab	05f257e5f0
11:60637010 ZP1 G>A	11	60637010	60637010	G	A	ZP1	c.319G>A	NM_207341.4	NP_997224.2:p.(Asp107Asn)	NC_000011.9:g.60637010G>A	(Likely) benign	1 lab	05f33c9e6d
1:110883315 RBM15 G>C	1	110883315	110883315	G	C	RBM15	c.1288G>C	NM_022768.5	NP_073605.4:p.(Ala430Pro)	NC_000001.10:g.110883315G>C	VUS	1 lab	05f528db33
X:53250090 KDM5C C>A	X	53250090	53250090	C	A	KDM5C	c.159G>T	NM_004187.5	NP_004178.2:p.(Gln53His)	NC_000023.10:g.53250090C>A	VUS	1 lab	05f581bf41
17:80678228 FN3KRP C>T	17	80678228	80678228	C	T	FN3KRP	c.374C>T	NM_024619.4	NP_078895.2:p.(Ala125Val)	NC_000017.10:g.80678228C>T	(Likely) benign	1 lab	05f64abfa3
15:89415329 ACAN G>A	15	89415329	89415329	G	A	ACAN	c.7302+13G>A	NM_001369268.1	NP_001356197.1:p.?	NC_000015.9:g.89415329G>A	(Likely) benign	1 lab	05f6b6d31b
X:41200832 DDX3X A>G	X	41200832	41200832	A	G	DDX3X	c.247A>G	NM_001356.5	NP_001347.3:p.(Ser83Gly)	NC_000023.10:g.41200832A>G	(Likely) benign	1 lab	05f9259bab
9:27548433 C9orf72 G>GAA	9	27548433	27548459	G	GAA	C9orf72	c.1260-15_1260-14dup	NM_001256054.2	NP_001242983.1:p.?	NC_000009.11:g.27548458_27548459dup	(Likely) benign	1 lab	19f05ea338
16:10788598 TEKT5 G>A	16	10788598	10788598	G	A	TEKT5	c.133C>T	NM_144674.2	NP_653275.1:p.(Arg45Cys)	NC_000016.9:g.10788598G>A	(Likely) benign	1 lab	05fc2369bf
1:8684362 RERE C>T	1	8684362	8684362	C	T	RERE	c.396+7G>A	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8684362C>T	(Likely) benign	1 lab	05fc4bcb85
1:22154362 HSPG2 C>T	1	22154362	22154362	C	T	HSPG2	c.12583G>A	NM_005529.7	NP_005520.4:p.(Gly4195Ser)	NC_000001.10:g.22154362C>T	VUS	1 lab	05fc73c302
19:53014242 ZNF578 A>G	19	53014242	53014242	A	G	ZNF578	c.608A>G	NM_001099694.2	NP_001093164.1:p.(His203Arg)	NC_000019.9:g.53014242A>G	VUS	1 lab	05fc7e3e55
2:18745333 NT5C1B T>C	2	18745333	18745333	T	C	NT5C1B	c.1382A>G	NM_033253.4	NP_150278.2:p.(Tyr461Cys)	NC_000002.11:g.18745333T>C	VUS	1 lab	05fcc3f4eb
19:50921180 POLD1 AC>A	19	50921180	50921185	AC	A	POLD1	c.3305del	NM_002691.4	NP_002682.2:p.(Pro1102LeufsTer22)	NC_000019.9:g.50921185del	VUS	1 lab	05fdab3f6c
8:144999302 PLEC C>G	8	144999302	144999302	C	G	PLEC	c.4795G>C	NM_201384.3	NP_958786.1:p.(Glu1599Gln)	NC_000008.10:g.144999302C>G	VUS	1 lab	05fe78d3b2
21:34927112 SON T>G	21	34927112	34927112	T	G	SON	c.5575T>G	NM_138927.4	NP_620305.3:p.(Ser1859Ala)	NC_000021.8:g.34927112T>G	(Likely) benign	1 lab	05ffb7311a
11:57068063 TNKS1BP1 G>A	11	57068063	57068063	G	A	TNKS1BP1	c.5141C>T	NM_033396.3	NP_203754.2:p.(Ser1714Leu)	NC_000011.9:g.57068063G>A	VUS	1 lab	060139a9e6
8:97343293 PTDSS1 A>G	8	97343293	97343293	A	G	PTDSS1	c.1282A>G	NM_014754.3	NP_055569.1:p.(Ile428Val)	NC_000008.10:g.97343293A>G	(Likely) benign	1 lab	06017b0194
4:1807464 FGFR3 C>T	4	1807464	1807464	C	T	FGFR3	c.1646-13C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807464C>T	(Likely) benign	1 lab	0601f585eb
2:15564503 NBAS G>A	2	15564503	15564503	G	A	NBAS	c.2513C>T	NM_015909.4	NP_056993.2:p.(Thr838Met)	NC_000002.11:g.15564503G>A	(Likely) benign	1 lab	060215dcac
4:103806558 CISD2 G>C	4	103806558	103806558	G	C	CISD2	c.289G>C	NM_001008388.5	NP_001008389.1:p.(Ala97Pro)	NC_000004.11:g.103806558G>C	VUS	1 lab	0602514aca
13:31897937 B3GLCT C>T	13	31897937	31897937	C	T	B3GLCT	c.1234C>T	NM_194318.4	NP_919299.3:p.(Arg412Ter)	NC_000013.10:g.31897937C>T	(Likely) pathogenic	1 lab	0603fae0a5
3:12650262 RAF1 T>C	3	12650262	12650262	T	C	RAF1	c.581+3A>G	NM_002880.4	NP_002871.1:p.?	NC_000003.11:g.12650262T>C	VUS	1 lab	0604f0e827
1:44395844 ST3GAL3 G>A	1	44395844	44395844	G	A	ST3GAL3	c.1079G>A	NM_006279.5	NP_006270.1:p.(Arg360Gln)	NC_000001.10:g.44395844G>A	VUS	1 lab	060590a98e
9:35089414 PIGO G>A	9	35089414	35089414	G	A	PIGO	c.3103C>T	NM_032634.4	NP_116023.2:p.(Arg1035Cys)	NC_000009.11:g.35089414G>A	VUS	1 lab	0605b9e31e
16:2159306 PKD1 G>GT	16	2159306	2159311	G	GT	PKD1	c.5861dup	NM_001009944.3	NP_001009944.3:p.(Asn1954LysfsTer36)	NC_000016.9:g.2159311dup	(Likely) pathogenic	1 lab	0605c1a122
19:55672058 DNAAF3 T>TC	19	55672058	55672065	T	TC	DNAAF3	c.997dup	NM_001256715.2	NP_001243644.1:p.(Asp333GlyfsTer64)	NC_000019.9:g.55672065dup	(Likely) pathogenic	1 lab	0606852b7a
2:3691473 COLEC11 C>T	2	3691473	3691473	C	T	COLEC11	c.581C>T	NM_024027.5	NP_076932.1:p.(Ala194Val)	NC_000002.11:g.3691473C>T	VUS	1 lab	0607285605
19:19447991 MAU2 G>T	19	19447991	19447991	G	T	MAU2	c.373G>T	NM_015329.4	NP_056144.3:p.(Ala125Ser)	NC_000019.9:g.19447991G>T	(Likely) benign	1 lab	06081b6be4
3:49201439 CCDC71 C>G	3	49201439	49201439	C	G	CCDC71	c.203G>C	NM_022903.4	NP_075054.3:p.(Gly68Ala)	NC_000003.11:g.49201439C>G	(Likely) benign	1 lab	060a23797c
X:9914703 SHROOM2 G>A	X	9914703	9914703	G	A	SHROOM2	c.4585-8G>A	NM_001649.4	NP_001640.1:p.?	NC_000023.10:g.9914703G>A	VUS	1 lab	060a878abf
X:64957203 MSN A>G	X	64957203	64957203	A	G	MSN	c.1251+3A>G	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64957203A>G	VUS	1 lab	060b24abac
4:5627634 EVC2 C>T	4	5627634	5627634	C	T	EVC2	c.1888G>A	NM_147127.5	NP_667338.3:p.(Ala630Thr)	NC_000004.11:g.5627634C>T	VUS	1 lab	060ff32155
5:90445958 ADGRV1 T>A	5	90445958	90445958	T	A	ADGRV1	c.18544T>A	NM_032119.4	NP_115495.3:p.(Phe6182Ile)	NC_000005.9:g.90445958T>A	(Likely) benign	1 lab	19f1ee3b08
11:6646036 DCHS1 C>A	11	6646036	6646036	C	A	DCHS1	c.7210G>T	NM_003737.4	NP_003728.1:p.(Asp2404Tyr)	NC_000011.9:g.6646036C>A	(Likely) benign	1 lab	0612e41a27
X:33229421 DMD C>A	X	33229421	33229421	C	A	DMD	c.9G>T	NM_004006.3	NP_003997.2:p.(Trp3Cys)	NC_000023.10:g.33229421C>A	VUS	1 lab	0614015810
4:56877985 CEP135 T>A	4	56877985	56877985	T	A	CEP135	c.2636T>A	NM_025009.5	NP_079285.2:p.(Leu879Ter)	NC_000004.11:g.56877985T>A	VUS	1 lab	0615ede19f
14:105609984 JAG2 A>G	14	105609984	105609984	A	G	JAG2	c.3085-9T>C	NM_002226.5	NP_002217.3:p.?	NC_000014.8:g.105609984A>G	(Likely) benign	1 lab	0616e08001
6:143792148 PEX3 C>G	6	143792148	143792148	C	G	PEX3	c.382C>G	NM_003630.3	NP_003621.1:p.(Leu128Val)	NC_000006.11:g.143792148C>G	(Likely) benign	1 lab	06174a117d
1:44468081 SLC6A9 C>A	1	44468081	44468081	C	A	SLC6A9	c.866G>T	NM_001024845.3	NP_001020016.1:p.(Gly289Val)	NC_000001.10:g.44468081C>A	VUS	1 lab	061780eb73
2:99778788 LIPT1 AG>A	2	99778788	99778789	AG	A	LIPT1	c.369del	NM_145199.3	NP_660200.1:p.(Lys123AsnfsTer8)	NC_000002.11:g.99778789del	(Likely) pathogenic	1 lab	061885cc6e
X:34148838 FAM47A C>G	X	34148838	34148838	C	G	FAM47A	c.1558G>C	NM_203408.4	NP_981953.2:p.(Glu520Gln)	NC_000023.10:g.34148838C>G	VUS	1 lab	0619229e18
6:110098245 FIG4 T>C	6	110098245	110098245	T	C	FIG4	c.1871T>C	NM_014845.6	NP_055660.1:p.(Leu624Pro)	NC_000006.11:g.110098245T>C	VUS	1 lab	0619c3e177
1:247588235 NLRP3 C>T	1	247588235	247588235	C	T	NLRP3	c.1484C>T	NM_001243133.2	NP_001230062.1:p.(Ala495Val)	NC_000001.10:g.247588235C>T	VUS	1 lab	19f2793aff
11:118344302 KMT2A G>A	11	118344302	118344302	G	A	KMT2A	c.2428G>A	NM_001197104.2	NP_001184033.1:p.(Ala810Thr)	NC_000011.9:g.118344302G>A	(Likely) benign	1 lab	061baf6dea
16:81929404 PLCG2 C>G	16	81929404	81929404	C	G	PLCG2	c.1073-8C>G	NM_002661.3	NP_002652.2:p.?	NC_000016.9:g.81929404C>G	(Likely) benign	1 lab	19f65f957b
12:57599386 LRP1 A>T	12	57599386	57599386	A	T	LRP1	c.11516A>T	NM_002332.3	NP_002323.2:p.(Asn3839Ile)	NC_000012.11:g.57599386A>T	VUS	1 lab	061d1e67de
2:240951085 NDUFA10 T>C	2	240951085	240951085	T	C	NDUFA10	c.698A>G	NM_004544.4	NP_004535.1:p.(Tyr233Cys)	NC_000002.11:g.240951085T>C	VUS	1 lab	061d778fc3
14:95236204 GSC G>GCGC	14	95236204	95236213	G	GCGC	GSC	c.146_148dup	NM_173849.3	NP_776248.1:p.(Gly49dup)	NC_000014.8:g.95236211_95236213dup	(Likely) benign	1 lab	061dbc5c0b
11:5799838 OR52N5 C>T	11	5799838	5799838	C	T	OR52N5	c.27G>A	NM_001385662.1	NP_001372591.1:p.(Trp9Ter)	NC_000011.9:g.5799838C>T	VUS	1 lab	061df1f49c
X:32509623 DMD G>A	X	32509623	32509623	G	A	DMD	c.2393C>T	NM_004006.3	NP_003997.2:p.(Ala798Val)	NC_000023.10:g.32509623G>A	VUS	1 lab	061dfdb1f7
11:116656270 ZPR1 T>C	11	116656270	116656270	T	C	ZPR1	c.665A>G	NM_003904.5	NP_003895.1:p.(Tyr222Cys)	NC_000011.9:g.116656270T>C	VUS	1 lab	061f001a70
2:136690414 DARS1 TA>T	2	136690414	136690429	TA	T	DARS1	c.505-3del	NM_001349.4	NP_001340.2:p.?	NC_000002.11:g.136690429del	(Likely) benign	1 lab	061fe713e2
2:121747358 GLI2 C>T	2	121747358	121747358	C	T	GLI2	c.3817C>T	NM_001374353.1	NP_001361282.1:p.(Pro1273Ser)	NC_000002.11:g.121747358C>T	(Likely) benign	1 lab	0622b4f153
18:67715248 RTTN T>C	18	67715248	67715248	T	C	RTTN	c.5500A>G	NM_173630.4	NP_775901.3:p.(Asn1834Asp)	NC_000018.9:g.67715248T>C	VUS	1 lab	06232314de
16:2142487 PKD1 G>A	16	2142487	2142487	G	A	PKD1	c.11263C>T	NM_001009944.3	NP_001009944.3:p.(Gln3755Ter)	NC_000016.9:g.2142487G>A	(Likely) pathogenic	1 lab	06232b69a4
16:17564405 XYLT1 GCCT>G	16	17564405	17564421	GCCT	G	XYLT1	c.246_248del	NM_022166.4	NP_071449.1:p.(Gly90del)	NC_000016.9:g.17564419_17564421del	VUS	1 lab	0624e77257
11:6554950 DNHD1 C>T	11	6554950	6554950	C	T	DNHD1	c.2545C>T	NM_144666.3	NP_653267.2:p.(Arg849Ter)	NC_000011.9:g.6554950C>T	VUS	1 lab	0624fff199
14:69256618 ZFP36L1 T>C	14	69256618	69256618	T	C	ZFP36L1	c.649A>G	NM_004926.4	NP_004917.2:p.(Thr217Ala)	NC_000014.8:g.69256618T>C	VUS	1 lab	0625d78b16
7:100175010 LRCH4 C>T	7	100175010	100175010	C	T	LRCH4	c.1181G>A	NM_002319.5	NP_002310.2:p.(Arg394Gln)	NC_000007.13:g.100175010C>T	(Likely) benign	1 lab	062600caf7
1:53666473 CPT2 T>C	1	53666473	53666473	T	C	CPT2	c.233+2T>C	NM_000098.3	NP_000089.1:p.?	NC_000001.10:g.53666473T>C	(Likely) pathogenic	1 lab	19fb06b450
22:46765705 CELSR1 A>C	22	46765705	46765705	A	C	CELSR1	c.7760-4T>G	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46765705A>C	(Likely) benign	1 lab	0626ec7e22
X:50127199 DGKK T>G	X	50127199	50127199	T	G	DGKK	c.2516A>C	NM_001013742.4	NP_001013764.1:p.(Asn839Thr)	NC_000023.10:g.50127199T>G	(Likely) benign	1 lab	0627761402
1:3649608 TP73 A>G	1	3649608	3649608	A	G	TP73	c.1876A>G	NM_005427.4	NP_005418.1:p.(Ile626Val)	NC_000001.10:g.3649608A>G	VUS	1 lab	068ad68491
9:36223516 GNE C>CCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA	9	36223516	36223517	C	CCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA	GNE	c.1282-18_1282-17insTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG	NM_005476.7	NP_005467.1:p.?	NC_000009.11:g.36223516_36223517insCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA	(Likely) benign	1 lab	062966bbee
9:12709174 TYRP1 G>A	9	12709174	12709174	G	A	TYRP1	c.1606G>A	NM_000550.3	NP_000541.1:p.(Val536Met)	NC_000009.11:g.12709174G>A	VUS	1 lab	06299dab4f
2:152477530 NEB C>T	2	152477530	152477530	C	T	NEB	c.10463G>A	NM_001164508.2	NP_001157980.2:p.(Arg3488His)	NC_000002.11:g.152477530C>T	(Likely) benign	1 lab	062c7cebca
5:122720724 CEP120 T>C	5	122720724	122720724	T	C	CEP120	c.1684A>G	NM_001375405.1	NP_001362334.1:p.(Thr562Ala)	NC_000005.9:g.122720724T>C	(Likely) benign	1 lab	062d59f533
12:422353 KDM5A G>A	12	422353	422353	G	A	KDM5A	c.2905C>T	NM_001042603.3	NP_001036068.1:p.(His969Tyr)	NC_000012.11:g.422353G>A	(Likely) benign	1 lab	062e6b6f0d
19:48814835 ODAD1 A>G	19	48814835	48814835	A	G	ODAD1	c.572T>C	NM_001364171.2	NP_001351100.1:p.(Leu191Pro)	NC_000019.9:g.48814835A>G	VUS	1 lab	062f599eb2
19:48183262 BICRA G>A	19	48183262	48183262	G	A	BICRA	c.835G>A	NM_001394372.1	NP_001381301.1:p.(Gly279Ser)	NC_000019.9:g.48183262G>A	(Likely) benign	1 lab	062f6ae5fd
3:128627941 ACAD9 C>T	3	128627941	128627941	C	T	ACAD9	c.1484C>T	NM_014049.5	NP_054768.2:p.(Ala495Val)	NC_000003.11:g.128627941C>T	VUS	1 lab	06316f9a05
9:139409151 NOTCH1 C>A	9	139409151	139409151	C	A	NOTCH1	c.2018G>T	NM_017617.5	NP_060087.3:p.(Ser673Ile)	NC_000009.11:g.139409151C>A	(Likely) benign	1 lab	0632bbbb56
15:56385698 RFX7 G>A	15	56385698	56385698	G	A	RFX7	c.4228C>T	NM_022841.7	NP_073752.6:p.(Arg1410Cys)	NC_000015.9:g.56385698G>A	(Likely) benign	1 lab	06357eb453
16:75269697 BCAR1 G>A	16	75269697	75269697	G	A	BCAR1	c.1100C>T	NM_014567.5	NP_055382.2:p.(Pro367Leu)	NC_000016.9:g.75269697G>A	VUS	1 lab	0637aa2735
16:28912085 ATP2A1 G>A	16	28912085	28912085	G	A	ATP2A1	c.1948G>A	NM_004320.6	NP_004311.1:p.(Asp650Asn)	NC_000016.9:g.28912085G>A	VUS	1 lab	0638d0e8f0
19:47920204 MEIS3 G>T	19	47920204	47920204	G	T	MEIS3	c.202C>A	NM_001301059.2	NP_001287988.1:p.(Leu68Ile)	NC_000019.9:g.47920204G>T	VUS	1 lab	063a37776b
15:63929718 HERC1 A>G	15	63929718	63929718	A	G	HERC1	c.12218T>C	NM_003922.4	NP_003913.3:p.(Ile4073Thr)	NC_000015.9:g.63929718A>G	VUS	1 lab	063c81b288
21:38997580 KCNJ6 C>A	21	38997580	38997580	C	A	KCNJ6	c.1153G>T	NM_002240.5	NP_002231.1:p.(Val385Leu)	NC_000021.8:g.38997580C>A	(Likely) benign	1 lab	063e44a48f
3:9776149 BRPF1 C>T	3	9776149	9776149	C	T	BRPF1	c.325C>T	NM_001003694.2	NP_001003694.1:p.(Arg109Cys)	NC_000003.11:g.9776149C>T	VUS	1 lab	0640e82ca0
9:15422906 SNAPC3 C>G	9	15422906	15422906	C	G	SNAPC3	c.29C>G	NM_001039697.2	NP_001034786.1:p.(Thr10Arg)	NC_000009.11:g.15422906C>G	(Likely) benign	1 lab	06411156c4
21:47407567 COL6A1 A>G	21	47407567	47407567	A	G	COL6A1	c.803A>G	NM_001848.3	NP_001839.2:p.(Glu268Gly)	NC_000021.8:g.47407567A>G	VUS	1 lab	06430e9e2a
12:464343 KDM5A C>A	12	464343	464343	C	A	KDM5A	c.851G>T	NM_001042603.3	NP_001036068.1:p.(Gly284Val)	NC_000012.11:g.464343C>A	VUS	1 lab	0643107b38
8:145007228 PLEC T>C	8	145007228	145007228	T	C	PLEC	c.1470A>G	NM_201384.3	NP_958786.1:p.(Leu490=)	NC_000008.10:g.145007228T>C	(Likely) benign	1 lab	064481931d
3:120365143 HGD T>G	3	120365143	120365143	T	G	HGD	c.620A>C	NM_000187.4	NP_000178.2:p.(His207Pro)	NC_000003.11:g.120365143T>G	VUS	1 lab	0645b9e7b9
12:133067447 FBRSL1 G>GAAGGATATGGCCCT	12	133067447	133067448	G	GAAGGATATGGCCCT	FBRSL1	c.291_291+1insAAGGATATGGCCCT	NM_001367871.1	NP_001354800.1:p.?	NC_000012.11:g.133067447_133067448insAAGGATATGGCCCT	(Likely) benign	1 lab	06463c899a
2:54856075 SPTBN1 A>C	2	54856075	54856075	A	C	SPTBN1	c.1804A>C	NM_003128.3	NP_003119.2:p.(Lys602Gln)	NC_000002.11:g.54856075A>C	VUS	1 lab	0646cc9cb7
7:47874723 PKD1L1 G>A	7	47874723	47874723	G	A	PKD1L1	c.6054+8C>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47874723G>A	(Likely) benign	1 lab	0646e0ef67
9:124064435 GSN C>T	9	124064435	124064435	C	T	GSN	c.186C>T	NM_198252.3	NP_937895.1:p.(His62=)	NC_000009.11:g.124064435C>T	(Likely) benign	1 lab	0647a99ce9
2:168100655 XIRP2 C>G	2	168100655	168100655	C	G	XIRP2	c.2753C>G	NM_152381.6	NP_689594.4:p.(Thr918Ser)	NC_000002.11:g.168100655C>G	(Likely) benign	1 lab	0648e076aa
2:74329292 TET3 C>T	2	74329292	74329292	C	T	TET3	c.5377C>T	NM_001287491.2	NP_001274420.1:p.(Arg1793Cys)	NC_000002.11:g.74329292C>T	VUS	1 lab	064911d140
12:102120152 CHPT1 C>T	12	102120152	102120152	C	T	CHPT1	c.1146C>T	NM_020244.3	NP_064629.2:p.(Phe382=)	NC_000012.11:g.102120152C>T	(Likely) benign	1 lab	06493e353b
14:36140644 RALGAPA1 A>T	14	36140644	36140644	A	T	RALGAPA1	c.5153T>A	NM_001346249.2	NP_001333178.1:p.(Met1718Lys)	NC_000014.8:g.36140644A>T	VUS	1 lab	0649e97ad2
1:6880304 CAMTA1 A>G	1	6880304	6880304	A	G	CAMTA1	c.109A>G	NM_015215.4	NP_056030.1:p.(Ile37Val)	NC_000001.10:g.6880304A>G	(Likely) benign	1 lab	064a03e654
22:40057208 CACNA1I C>A	22	40057208	40057208	C	A	CACNA1I	c.2794C>A	NM_021096.4	NP_066919.2:p.(Pro932Thr)	NC_000022.10:g.40057208C>A	(Likely) benign	1 lab	064a3b56ab
22:45938160 FBLN1 G>A	22	45938160	45938160	G	A	FBLN1	c.1192G>A	NM_006486.3	NP_006477.3:p.(Val398Ile)	NC_000022.10:g.45938160G>A	(Likely) benign	1 lab	064c78b642
11:65115942 DPF2 C>T	11	65115942	65115942	C	T	DPF2	c.1018-379C>T	NM_006268.5	NP_006259.1:p.?	NC_000011.9:g.65115942C>T	(Likely) benign	1 lab	064ccffc46
14:101200984 DLK1 G>C	14	101200984	101200984	G	C	DLK1	c.903G>C	NM_003836.7	NP_003827.4:p.(Glu301Asp)	NC_000014.8:g.101200984G>C	VUS	1 lab	064cf60afd
14:55369266 GCH1 G>C	14	55369266	55369266	G	C	GCH1	c.116C>G	NM_000161.3	NP_000152.1:p.(Pro39Arg)	NC_000014.8:g.55369266G>C	VUS	1 lab	064d3d2867
21:37618302 DOP1B C>T	21	37618302	37618302	C	T	DOP1B	c.4024C>T	NM_001320714.2	NP_001307643.1:p.(Arg1342Trp)	NC_000021.8:g.37618302C>T	VUS	1 lab	064e90a4dc
9:100840478 NANS G>T	9	100840478	100840478	G	T	NANS	c.452G>T	NM_018946.4	NP_061819.2:p.(Arg151Leu)	NC_000009.11:g.100840478G>T	(Likely) pathogenic	1 lab	064eb020dd
19:17566562 NXNL1 G>A	19	17566562	17566562	G	A	NXNL1	c.533C>T	NM_138454.2	NP_612463.1:p.(Thr178Ile)	NC_000019.9:g.17566562G>A	VUS	1 lab	0651ca5821
2:152584331 NEB T>TGCTGGCTGTGCCAGA	2	152584331	152584351	T	TGCTGGCTGTGCCAGA	NEB	c.153_167dup	NM_001164508.2	NP_001157980.2:p.(Leu57_Ala61dup)	NC_000002.11:g.152584337_152584351dup	(Likely) benign	1 lab	0651cc92ca
X:39933835 BCOR G>T	X	39933835	39933835	G	T	BCOR	c.764C>A	NM_001123385.2	NP_001116857.1:p.(Pro255His)	NC_000023.10:g.39933835G>T	(Likely) benign	1 lab	06532b8272
3:15084335 NR2C2 T>G	3	15084335	15084335	T	G	NR2C2	c.1617-6T>G	NM_001291694.2	NP_001278623.1:p.?	NC_000003.11:g.15084335T>G	(Likely) benign	1 lab	0653395b4e
2:234862669 TRPM8 T>C	2	234862669	234862669	T	C	TRPM8	c.1243+6T>C	NM_024080.5	NP_076985.4:p.?	NC_000002.11:g.234862669T>C	(Likely) benign	1 lab	0653d3c4d9
6:114279873 HDAC2 T>C	6	114279873	114279873	T	C	HDAC2	c.223A>G	NM_001527.4	NP_001518.3:p.(Lys75Glu)	NC_000006.11:g.114279873T>C	(Likely) benign	1 lab	06544e11b6
12:110240947 TRPV4 C>T	12	110240947	110240947	C	T	TRPV4	c.561G>A	NM_021625.5	NP_067638.3:p.(Glu187=)	NC_000012.11:g.110240947C>T	(Likely) benign	1 lab	06554b356e
16:1391185 BAIAP3 A>G	16	1391185	1391185	A	G	BAIAP3	c.524A>G	NM_001199097.2	NP_001186026.1:p.(Lys175Arg)	NC_000016.9:g.1391185A>G	(Likely) benign	1 lab	065558bfdb
5:141024201 FCHSD1 C>T	5	141024201	141024201	C	T	FCHSD1	c.1581G>A	NM_033449.3	NP_258260.1:p.(Pro527=)	NC_000005.9:g.141024201C>T	VUS	1 lab	0656dd16a4
16:3828723 CREBBP A>C	16	3828723	3828723	A	C	CREBBP	c.1919T>G	NM_004380.3	NP_004371.2:p.(Met640Arg)	NC_000016.9:g.3828723A>C	(Likely) pathogenic	1 lab	0656fb55e2
2:209106875 IDH1 A>G	2	209106875	209106875	A	G	IDH1	c.699-6T>C	NM_005896.4	NP_005887.2:p.?	NC_000002.11:g.209106875A>G	(Likely) benign	1 lab	065800b6df
19:20229261 ZNF90 CT>C	19	20229261	20229264	CT	C	ZNF90	c.901del	NM_007138.2	NP_009069.1:p.(Tyr301MetfsTer5)	NC_000019.9:g.20229264del	(Likely) benign	1 lab	0658a83307
6:169064747 SMOC2 C>T	6	169064747	169064747	C	T	SMOC2	c.1286-7C>T	NM_001166412.2	NP_001159884.1:p.?	NC_000006.11:g.169064747C>T	(Likely) benign	1 lab	0659cb64e5
16:70534950 COG4 C>T	16	70534950	70534950	C	T	COG4	c.1106G>A	NM_015386.3	NP_056201.2:p.(Arg369His)	NC_000016.9:g.70534950C>T	VUS	1 lab	065a6e341a
8:41798401 KAT6A T>A	8	41798401	41798401	T	A	KAT6A	c.2998A>T	NM_006766.5	NP_006757.2:p.(Ser1000Cys)	NC_000008.10:g.41798401T>A	VUS	1 lab	066011ffd3
6:143094909 HIVEP2 T>C	6	143094909	143094909	T	C	HIVEP2	c.967A>G	NM_006734.4	NP_006725.3:p.(Met323Val)	NC_000006.11:g.143094909T>C	VUS	1 lab	0660e4c3bf
11:1017463 MUC6 TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG>T	11	1017463	1017602	TTCTGGTGCCTGTACTGGTGTGGTTGGGGGTGATGCTGGTGGTAGAAGTTGAGGTGACTTCAGGATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGGCCGTGCTAAATGAGCTTCGGGATTGGCTG	T	MUC6	c.5199_5337del	NM_005961.3	NP_005952.2:p.(Ser1734ProfsTer69)	NC_000011.9:g.1017464_1017602del	(Likely) benign	1 lab	06617289fc
15:33858946 RYR3 C>T	15	33858946	33858946	C	T	RYR3	c.1214C>T	NM_001036.6	NP_001027.3:p.(Ser405Phe)	NC_000015.9:g.33858946C>T	VUS	1 lab	2ab02cc7e1
8:145541252 DGAT1 C>T	8	145541252	145541252	C	T	DGAT1	c.937-1G>A	NM_012079.6	NP_036211.2:p.?	NC_000008.10:g.145541252C>T	(Likely) pathogenic	1 lab	06634c3024
4:88929354 PKD2 C>T	4	88929354	88929354	C	T	PKD2	c.469C>T	NM_000297.4	NP_000288.1:p.(Arg157Ter)	NC_000004.11:g.88929354C>T	(Likely) pathogenic	1 lab	0663551581
X:8138138 VCX2 C>G	X	8138138	8138138	C	G	VCX2	c.355G>C	NM_016378.3	NP_057462.2:p.(Glu119Gln)	NC_000023.10:g.8138138C>G	(Likely) benign	1 lab	066437a45d
10:70229911 DNA2 C>A	10	70229911	70229911	C	A	DNA2	c.84G>T	NM_001080449.3	NP_001073918.2:p.(Lys28Asn)	NC_000010.10:g.70229911C>A	VUS	1 lab	0664e4579f
11:17414671 ABCC8 C>T	11	17414671	17414671	C	T	ABCC8	c.4613G>A	NM_000352.6	NP_000343.2:p.(Arg1538Gln)	NC_000011.9:g.17414671C>T	(Likely) pathogenic	1 lab	0665574e15
6:43023701 MRPL2 C>A	6	43023701	43023701	C	A	MRPL2	c.565G>T	NM_015950.5	NP_057034.2:p.(Val189Leu)	NC_000006.11:g.43023701C>A	(Likely) benign	1 lab	0666709225
22:25007181 GGT1 G>A	22	25007181	25007181	G	A	GGT1	c.133G>A	NM_001288833.2	NP_001275762.1:p.(Ala45Thr)	NC_000022.10:g.25007181G>A	VUS	1 lab	0666c11b15
X:50094645 CCNB3 G>A	X	50094645	50094645	G	A	CCNB3	c.4131G>A	NM_033031.3	NP_149020.2:p.(Met1377Ile)	NC_000023.10:g.50094645G>A	(Likely) benign	1 lab	06677ff687
16:66997706 CES3 T>TC	16	66997706	66997707	T	TC	CES3	c.429dup	NM_024922.6	NP_079198.2:p.(Met144HisfsTer48)	NC_000016.9:g.66997707dup	VUS	1 lab	06678b4a97
15:90272273 WDR93 C>T	15	90272273	90272273	C	T	WDR93	c.1072C>T	NM_020212.2	NP_064597.1:p.(Leu358Phe)	NC_000015.9:g.90272273C>T	VUS	1 lab	066856fcc2
10:15725999 ITGA8 T>A	10	15725999	15725999	T	A	ITGA8	c.568+4A>T	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15725999T>A	VUS	1 lab	06689e945b
19:13317550 CACNA1A G>A	19	13317550	13317550	G	A	CACNA1A	c.*577C>T	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13317550G>A	VUS	1 lab	0668c3224d
19:1555370 MEX3D G>C	19	1555370	1555370	G	C	MEX3D	c.*192C>G	NM_203304.4	NP_976049.3:p.?	NC_000019.9:g.1555370G>C	(Likely) benign	1 lab	066bf0bc4c
19:36034590 GAPDHS G>A	19	36034590	36034590	G	A	GAPDHS	c.917G>A	NM_014364.5	NP_055179.1:p.(Arg306Gln)	NC_000019.9:g.36034590G>A	VUS	1 lab	066cf02807
19:54652444 CNOT3 C>G	19	54652444	54652444	C	G	CNOT3	c.1372C>G	NM_014516.4	NP_055331.1:p.(Pro458Ala)	NC_000019.9:g.54652444C>G	(Likely) benign	1 lab	066d8c6992
2:214354700 SPAG16 C>T	2	214354700	214354700	C	T	SPAG16	c.956C>T	NM_024532.5	NP_078808.3:p.(Pro319Leu)	NC_000002.11:g.214354700C>T	VUS	1 lab	066dfd9eab
11:89702047 TRIM64 AG>A	11	89702047	89702048	AG	A	TRIM64	c.377del	NM_001136486.2	NP_001129958.1:p.(Ser126ThrfsTer3)	NC_000011.9:g.89702048del	(Likely) benign	1 lab	0670101a13
12:100706305 SCYL2 C>T	12	100706305	100706305	C	T	SCYL2	c.726C>T	NM_017988.6	NP_060458.3:p.(Ser242=)	NC_000012.11:g.100706305C>T	VUS	1 lab	06703647d6
3:172166198 GHSR C>G	3	172166198	172166198	C	G	GHSR	c.6G>C	NM_198407.2	NP_940799.1:p.(Trp2Cys)	NC_000003.11:g.172166198C>G	VUS	1 lab	06711717f8
19:42492545 ATP1A3 T>G	19	42492545	42492545	T	G	ATP1A3	c.94-16A>C	NM_152296.5	NP_689509.1:p.?	NC_000019.9:g.42492545T>G	(Likely) benign	1 lab	067118efa5
7:151860806 KMT2C G>A	7	151860806	151860806	G	A	KMT2C	c.9856C>T	NM_170606.3	NP_733751.2:p.(Pro3286Ser)	NC_000007.13:g.151860806G>A	(Likely) benign	1 lab	06712160ab
2:220439913 INHA C>T	2	220439913	220439913	C	T	INHA	c.766C>T	NM_002191.4	NP_002182.1:p.(Pro256Ser)	NC_000002.11:g.220439913C>T	VUS	1 lab	0671f9ab4e
11:125770155 HYLS1 CCTT>C	11	125770155	125770161	CCTT	C	HYLS1	c.896_898del	NM_001134793.2	NP_001128265.1:p.(Ser299Ter)	NC_000011.9:g.125770159_125770161del	VUS	1 lab	06722e538e
11:119155983 CBL C>T	11	119155983	119155983	C	T	CBL	c.1648C>T	NM_005188.4	NP_005179.2:p.(Arg550Trp)	NC_000011.9:g.119155983C>T	VUS	1 lab	0673c815d1
17:11660909 DNAH9 A>G	17	11660909	11660909	A	G	DNAH9	c.6895A>G	NM_001372.4	NP_001363.2:p.(Ser2299Gly)	NC_000017.10:g.11660909A>G	VUS	1 lab	0673e5603e
22:41545884 EP300 G>A	22	41545884	41545884	G	A	EP300	c.2499G>A	NM_001429.4	NP_001420.2:p.(Ser833=)	NC_000022.10:g.41545884G>A	(Likely) benign	1 lab	06841f4e1d
2:189861031 COL3A1 TAC>T	2	189861031	189861054	TAC	T	COL3A1	c.1663-71_1663-70del	NM_000090.4	NP_000081.2:p.?	NC_000002.11:g.189861053_189861054del	(Likely) benign	1 lab	0673e7b6e4
7:47927744 PKD1L1 C>T	7	47927744	47927744	C	T	PKD1L1	c.2680G>A	NM_138295.5	NP_612152.1:p.(Val894Ile)	NC_000007.13:g.47927744C>T	(Likely) benign	1 lab	0677905da5
13:25671261 PABPC3 C>T	13	25671261	25671261	C	T	PABPC3	c.925C>T	NM_030979.3	NP_112241.2:p.(Arg309Cys)	NC_000013.10:g.25671261C>T	VUS	1 lab	0677fc50a1
1:247835961 OR13G1 T>C	1	247835961	247835961	T	C	OR13G1	c.383A>G	NM_001005487.2	NP_001005487.1:p.(His128Arg)	NC_000001.10:g.247835961T>C	(Likely) benign	1 lab	067861dbdd
12:13764683 GRIN2B TA>T	12	13764683	13764684	TA	T	GRIN2B	c.1755del	NM_000834.5	NP_000825.2:p.(Tyr585Ter)	NC_000012.11:g.13764684del	(Likely) pathogenic	1 lab	0678e7dbcc
7:102738946 ARMC10 T>G	7	102738946	102738946	T	G	ARMC10	c.978T>G	NM_031905.5	NP_114111.2:p.(Asp326Glu)	NC_000007.13:g.102738946T>G	(Likely) benign	1 lab	067a89ca21
1:24664558 GRHL3 G>A	1	24664558	24664558	G	A	GRHL3	c.917G>A	NM_198173.3	NP_937816.1:p.(Arg306Gln)	NC_000001.10:g.24664558G>A	(Likely) benign	1 lab	067ac8ff4f
1:103427469 COL11A1 G>A	1	103427469	103427469	G	A	COL11A1	c.3121C>T	NM_001854.4	NP_001845.3:p.(Pro1041Ser)	NC_000001.10:g.103427469G>A	VUS	1 lab	067b2b0a57
5:127419735 SLC12A2 C>G	5	127419735	127419735	C	G	SLC12A2	c.89C>G	NM_001046.3	NP_001037.1:p.(Ala30Gly)	NC_000005.9:g.127419735C>G	(Likely) benign	1 lab	067d2be938
11:62296697 AHNAK T>G	11	62296697	62296697	T	G	AHNAK	c.5192A>C	NM_001620.3	NP_001611.1:p.(Glu1731Ala)	NC_000011.9:g.62296697T>G	(Likely) benign	1 lab	06814e0ff9
7:115890547 TES A>G	7	115890547	115890547	A	G	TES	c.699A>G	NM_015641.4	NP_056456.1:p.(Gln233=)	NC_000007.13:g.115890547A>G	VUS	1 lab	0681622049
X:55514988 USP51 G>C	X	55514988	55514988	G	C	USP51	c.385C>G	NM_201286.4	NP_958443.1:p.(Arg129Gly)	NC_000023.10:g.55514988G>C	VUS	1 lab	068278aea5
9:98734753 ERCC6L2 C>A	9	98734753	98734753	C	A	ERCC6L2	c.2720C>A	NM_020207.7	NP_064592.3:p.(Thr907Lys)	NC_000009.11:g.98734753C>A	VUS	1 lab	0682ff8fbf
16:1815987 MAPK8IP3 G>A	16	1815987	1815987	G	A	MAPK8IP3	c.2473G>A	NM_001318852.2	NP_001305781.1:p.(Gly825Arg)	NC_000016.9:g.1815987G>A	VUS	1 lab	06834104ef
10:76790749 KAT6B A>G	10	76790749	76790749	A	G	KAT6B	c.6167A>G	NM_012330.4	NP_036462.2:p.(Tyr2056Cys)	NC_000010.10:g.76790749A>G	VUS	1 lab	0683ab3a2b
12:69103777 NUP107 T>C	12	69103777	69103777	T	C	NUP107	c.802-8T>C	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69103777T>C	(Likely) benign	1 lab	0683d5b7fd
1:27092783 ARID1A A>G	1	27092783	27092783	A	G	ARID1A	c.2804A>G	NM_006015.6	NP_006006.3:p.(Asn935Ser)	NC_000001.10:g.27092783A>G	(Likely) benign	1 lab	06850f27d7
9:136507332 DBH G>A	9	136507332	136507332	G	A	DBH	c.490G>A	NM_000787.4	NP_000778.3:p.(Gly164Ser)	NC_000009.11:g.136507332G>A	VUS	1 lab	0685f8e708
22:41911792 ACO2 G>A	22	41911792	41911792	G	A	ACO2	c.706G>A	NM_001098.3	NP_001089.1:p.(Gly236Ser)	NC_000022.10:g.41911792G>A	VUS	1 lab	06878dfa30
4:1803451 FGFR3 G>A	4	1803451	1803451	G	A	FGFR3	c.720G>A	NM_000142.5	NP_000133.1:p.(Thr240=)	NC_000004.11:g.1803451G>A	(Likely) benign	1 lab	068883fd89
7:107822351 NRCAM A>G	7	107822351	107822351	A	G	NRCAM	c.2561T>C	NM_001037132.4	NP_001032209.1:p.(Val854Ala)	NC_000007.13:g.107822351A>G	VUS	1 lab	068a02ea84
5:122754149 CEP120 T>C	5	122754149	122754149	T	C	CEP120	c.110A>G	NM_001375405.1	NP_001362334.1:p.(Glu37Gly)	NC_000005.9:g.122754149T>C	VUS	1 lab	068c357787
8:30703871 TEX15 ATTG>A	8	30703871	30703878	ATTG	A	TEX15	c.3809_3811del	NM_001350162.2	NP_001337091.1:p.(Thr1270del)	NC_000008.10:g.30703876_30703878del	VUS	1 lab	068c407bf2
18:19088070 GREB1L C>G	18	19088070	19088070	C	G	GREB1L	c.4369-9C>G	NM_001142966.3	NP_001136438.1:p.?	NC_000018.9:g.19088070C>G	(Likely) benign	1 lab	068c7ca65b
6:157100292 ARID1B A>G	6	157100292	157100292	A	G	ARID1B	c.1478A>G	NM_001374828.1	NP_001361757.1:p.(Gln493Arg)	NC_000006.11:g.157100292A>G	VUS	1 lab	068dce1f70
4:158282286 GRIA2 A>C	4	158282286	158282286	A	C	GRIA2	c.2406+10A>C	NM_001083619.3	NP_001077088.2:p.?	NC_000004.11:g.158282286A>C	(Likely) benign	1 lab	068eaa7928
1:226573306 PARP1 A>G	1	226573306	226573306	A	G	PARP1	c.910T>C	NM_001618.4	NP_001609.2:p.(Phe304Leu)	NC_000001.10:g.226573306A>G	VUS	1 lab	069133510f
10:96006282 PLCE1 C>T	10	96006282	96006282	C	T	PLCE1	c.3000C>T	NM_016341.4	NP_057425.3:p.(Ser1000=)	NC_000010.10:g.96006282C>T	(Likely) benign	1 lab	06914d7fa4
19:4550921 SEMA6B G>A	19	4550921	4550921	G	A	SEMA6B	c.1011C>T	NM_032108.4	NP_115484.2:p.(Cys337=)	NC_000019.9:g.4550921G>A	(Likely) benign	1 lab	0691c47eff
1:66037973 LEPR G>GTTTTTT	1	66037973	66038000	G	GTTTTTT	LEPR	c.371-14_371-9dup	NM_002303.6	NP_002294.2:p.?	NC_000001.10:g.66037995_66038000dup	VUS	1 lab	069280bcae
11:17409072 KCNJ11 G>A	11	17409072	17409072	G	A	KCNJ11	c.567C>T	NM_000525.4	NP_000516.3:p.(Ile189=)	NC_000011.9:g.17409072G>A	(Likely) benign	1 lab	0692ef7d09
2:191874599 STAT1 T>C	2	191874599	191874599	T	C	STAT1	c.128+3A>G	NM_007315.4	NP_009330.1:p.?	NC_000002.11:g.191874599T>C	VUS	1 lab	0694523a37
15:40631038 CCDC9B G>A	15	40631038	40631038	G	A	CCDC9B	c.298C>T	NM_207380.3	NP_997263.3:p.(Leu100Phe)	NC_000015.9:g.40631038G>A	(Likely) benign	1 lab	06963af731
19:18257758 MAST3 G>A	19	18257758	18257758	G	A	MAST3	c.3230G>A	NM_001393504.1	NP_001380433.1:p.(Arg1077Gln)	NC_000019.9:g.18257758G>A	(Likely) benign	1 lab	06964f5bf0
X:132458572 GPC4 C>A	X	132458572	132458572	C	A	GPC4	c.320-8G>T	NM_001448.3	NP_001439.2:p.?	NC_000023.10:g.132458572C>A	(Likely) benign	1 lab	069b1d0b2e
8:133175728 KCNQ3 C>T	8	133175728	133175728	C	T	KCNQ3	c.1249G>A	NM_004519.4	NP_004510.1:p.(Glu417Lys)	NC_000008.10:g.133175728C>T	VUS	1 lab	069c6cf049
10:105183348 PDCD11 T>C	10	105183348	105183348	T	C	PDCD11	c.2696T>C	NM_014976.2	NP_055791.1:p.(Val899Ala)	NC_000010.10:g.105183348T>C	(Likely) benign	1 lab	069c849e76
20:23361960 NAPB C>T	20	23361960	23361960	C	T	NAPB	c.562-6G>A	NM_022080.3	NP_071363.1:p.?	NC_000020.10:g.23361960C>T	(Likely) benign	1 lab	069cf96574
3:18427983 SATB1 T>C	3	18427983	18427983	T	C	SATB1	c.1327A>G	NM_002971.6	NP_002962.1:p.(Ile443Val)	NC_000003.11:g.18427983T>C	VUS	1 lab	069d49d60d
1:40773410 COL9A2 C>T	1	40773410	40773410	C	T	COL9A2	c.919G>A	NM_001852.4	NP_001843.1:p.(Gly307Ser)	NC_000001.10:g.40773410C>T	VUS	1 lab	069e080f00
11:64572240 MEN1 CCTCGGCCGCCTCGGCCT>C	11	64572240	64572263	CCTCGGCCGCCTCGGCCT	C	MEN1	c.1397_1413del	NM_130803.2	NP_570715.1:p.(Glu466GlyfsTer64)	NC_000011.9:g.64572247_64572263del	(Likely) pathogenic	1 lab	1994efa3f8
17:76109296 TMC6 C>T	17	76109296	76109296	C	T	TMC6	c.2355-4G>A	NM_001127198.5	NP_001120670.1:p.?	NC_000017.10:g.76109296C>T	(Likely) benign	1 lab	19fcfd413d
1:149858846 H2AC20 G>C	1	149858846	149858846	G	C	H2AC20	c.322G>C	NM_003517.3	NP_003508.1:p.(Val108Leu)	NC_000001.10:g.149858846G>C	VUS	1 lab	069ff912bc
18:10715802 PIEZO2 TTGA>T	18	10715802	10715809	TTGA	T	PIEZO2	c.5099_5101del	NM_001378183.1	NP_001365112.1:p.(Ile1700del)	NC_000018.9:g.10715807_10715809del	VUS	1 lab	06a03ac7c3
X:107977774 IRS4 C>T	X	107977774	107977774	C	T	IRS4	c.1801G>A	NM_001379150.1	NP_001366079.1:p.(Asp601Asn)	NC_000023.10:g.107977774C>T	VUS	1 lab	06a0975c01
X:76939021 ATRX G>A	X	76939021	76939021	G	A	ATRX	c.1727C>T	NM_000489.6	NP_000480.3:p.(Ser576Leu)	NC_000023.10:g.76939021G>A	(Likely) benign	1 lab	06a2342a50
17:42979916 DNAAF19 C>G	17	42979916	42979916	C	G	DNAAF19	c.460C>G	NM_213607.3	NP_998772.1:p.(His154Asp)	NC_000017.10:g.42979916C>G	VUS	1 lab	06a2d78fce
3:186769085 ST6GAL1 TC>T	3	186769085	186769087	TC	T	ST6GAL1	c.658del	NM_173216.2	NP_775323.1:p.(Gln220AsnfsTer12)	NC_000003.11:g.186769087del	VUS	1 lab	06a486f596
19:14208698 PRKACA G>T	19	14208698	14208698	G	T	PRKACA	c.424C>A	NM_002730.4	NP_002721.1:p.(Pro142Thr)	NC_000019.9:g.14208698G>T	VUS	1 lab	06a583e6f1
2:54856169 SPTBN1 G>A	2	54856169	54856169	G	A	SPTBN1	c.1898G>A	NM_003128.3	NP_003119.2:p.(Arg633His)	NC_000002.11:g.54856169G>A	(Likely) benign	1 lab	06a60050a6
2:219920114 IHH C>T	2	219920114	219920114	C	T	IHH	c.1051G>A	NM_002181.4	NP_002172.2:p.(Val351Met)	NC_000002.11:g.219920114C>T	(Likely) benign	1 lab	06a798d65b
9:99003058 HSD17B3 G>A	9	99003058	99003058	G	A	HSD17B3	c.804C>T	NM_000197.2	NP_000188.1:p.(Cys268=)	NC_000009.11:g.99003058G>A	(Likely) benign	1 lab	06a7c53da4
21:35229078 ITSN1 A>G	21	35229078	35229078	A	G	ITSN1	c.3700A>G	NM_003024.3	NP_003015.2:p.(Thr1234Ala)	NC_000021.8:g.35229078A>G	(Likely) benign	1 lab	06a80457b0
7:100361491 ZAN C>T	7	100361491	100361491	C	T	ZAN	c.4049C>T	NM_003386.3	NP_003377.2:p.(Ser1350Leu)	NC_000007.13:g.100361491C>T	(Likely) benign	1 lab	06a8453fc4
18:42530752 SETBP1 G>T	18	42530752	42530752	G	T	SETBP1	c.1447G>T	NM_015559.3	NP_056374.2:p.(Gly483Cys)	NC_000018.9:g.42530752G>T	VUS	1 lab	06a9848ed1
5:36986227 NIPBL C>T	5	36986227	36986227	C	T	NIPBL	c.2945C>T	NM_133433.4	NP_597677.2:p.(Pro982Leu)	NC_000005.9:g.36986227C>T	VUS	1 lab	06a9cac099
13:31903635 B3GLCT C>T	13	31903635	31903635	C	T	B3GLCT	c.1330-3C>T	NM_194318.4	NP_919299.3:p.?	NC_000013.10:g.31903635C>T	(Likely) benign	1 lab	06ac92871d
8:72936062 TRPA1 T>A	8	72936062	72936062	T	A	TRPA1	c.3136A>T	NM_007332.3	NP_015628.2:p.(Lys1046Ter)	NC_000008.10:g.72936062T>A	VUS	1 lab	06ad1684e6
3:189584503 TP63 G>A	3	189584503	189584503	G	A	TP63	c.799G>A	NM_003722.5	NP_003713.3:p.(Val267Ile)	NC_000003.11:g.189584503G>A	(Likely) benign	1 lab	06ad7adc62
2:27465488 CAD A>C	2	27465488	27465488	A	C	CAD	c.6223A>C	NM_004341.5	NP_004332.2:p.(Ile2075Leu)	NC_000002.11:g.27465488A>C	VUS	1 lab	199b8eb48a
19:2807520 THOP1 C>T	19	2807520	2807520	C	T	THOP1	c.967C>T	NM_003249.5	NP_003240.1:p.(Arg323Cys)	NC_000019.9:g.2807520C>T	VUS	1 lab	06b3cd99b5
18:76753100 SALL3 G>A	18	76753100	76753100	G	A	SALL3	c.1109G>A	NM_171999.4	NP_741996.2:p.(Gly370Asp)	NC_000018.9:g.76753100G>A	(Likely) benign	1 lab	06b67714a7
9:95050136 IARS1 C>G	9	95050136	95050136	C	G	IARS1	c.333G>C	NM_002161.6	NP_002152.2:p.(Met111Ile)	NC_000009.11:g.95050136C>G	VUS	1 lab	06b87e8790
X:153587934 FLNA C>T	X	153587934	153587934	C	T	FLNA	c.4060G>A	NM_001110556.2	NP_001104026.1:p.(Asp1354Asn)	NC_000023.10:g.153587934C>T	(Likely) benign	1 lab	06bb40e01b
18:19761423 GATA6 C>T	18	19761423	19761423	C	T	GATA6	c.1312C>T	NM_005257.6	NP_005248.2:p.(Arg438Trp)	NC_000018.9:g.19761423C>T	VUS	1 lab	06bbb4a5b8
15:90172687 KIF7 G>A	15	90172687	90172687	G	A	KIF7	c.3436C>T	NM_198525.3	NP_940927.2:p.(Arg1146Cys)	NC_000015.9:g.90172687G>A	VUS	1 lab	06bcda2f23
17:7416928 POLR2A A>C	17	7416928	7416928	A	C	POLR2A	c.5345A>C	NM_000937.5	NP_000928.1:p.(Asn1782Thr)	NC_000017.10:g.7416928A>C	(Likely) benign	1 lab	06be562e9a
17:18872386 SACK1G CTGTT>C	17	18872386	18872393	CTGTT	C	SACK1G	c.*2282_*2285del	NM_001039999.3	NP_001035088.2:p.?	NC_000017.10:g.18872390_18872393del	VUS	1 lab	06c1f04d7e
11:1955866 TNNT3 C>T	11	1955866	1955866	C	T	TNNT3	c.571C>T	NM_006757.4	NP_006748.1:p.(Leu191Phe)	NC_000011.9:g.1955866C>T	VUS	1 lab	06c219c5f7
17:62045462 SCN4A A>C	17	62045462	62045462	A	C	SCN4A	c.957T>G	NM_000334.4	NP_000325.4:p.(Tyr319Ter)	NC_000017.10:g.62045462A>C	VUS	1 lab	06c2bef0ae
X:50376654 SHROOM4 T>C	X	50376654	50376654	T	C	SHROOM4	c.2419A>G	NM_020717.5	NP_065768.2:p.(Ile807Val)	NC_000023.10:g.50376654T>C	(Likely) benign	1 lab	06c32882d7
17:76458996 DNAH17 C>G	17	76458996	76458996	C	G	DNAH17	c.9104G>C	NM_173628.4	NP_775899.3:p.(Arg3035Thr)	NC_000017.10:g.76458996C>G	VUS	1 lab	199d0fc128
5:89913810 ADGRV1 A>AC	5	89913810	89913811	A	AC	ADGRV1	c.357+41dup	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89913811dup	(Likely) benign	1 lab	1a04259e01
6:153073334 VIP C>T	6	153073334	153073334	C	T	VIP	c.22C>T	NM_003381.4	NP_003372.1:p.(Gln8Ter)	NC_000006.11:g.153073334C>T	VUS	1 lab	06c46de263
6:170159112 ERMARD C>T	6	170159112	170159112	C	T	ERMARD	c.556C>T	NM_018341.3	NP_060811.1:p.(Arg186Cys)	NC_000006.11:g.170159112C>T	VUS	1 lab	06c4e6cdf3
8:113347559 CSMD3 G>A	8	113347559	113347559	G	A	CSMD3	c.7164C>T	NM_198123.2	NP_937756.1:p.(His2388=)	NC_000008.10:g.113347559G>A	VUS	1 lab	06c6eab8fc
20:43264902 ADA A>C	20	43264902	43264902	A	C	ADA	c.61T>G	NM_000022.4	NP_000013.2:p.(Ser21Ala)	NC_000020.10:g.43264902A>C	VUS	1 lab	06c724c936
19:7170599 INSR G>A	19	7170599	7170599	G	A	INSR	c.1432C>T	NM_000208.4	NP_000199.2:p.(Arg478Cys)	NC_000019.9:g.7170599G>A	VUS	1 lab	06c77a7fee
7:65426052 GUSB T>A	7	65426052	65426052	T	A	GUSB	c.1790-2A>T	NM_000181.4	NP_000172.2:p.?	NC_000007.13:g.65426052T>A	(Likely) benign	1 lab	06c7f62305
19:50099991 PRR12 A>AGCT	19	50099991	50099997	A	AGCT	PRR12	c.2403_2405dup	NM_020719.3	NP_065770.1:p.(Leu802dup)	NC_000019.9:g.50099995_50099997dup	(Likely) benign	1 lab	06c837c665
9:100459441 XPA G>A	9	100459441	100459441	G	A	XPA	c.134C>T	NM_000380.4	NP_000371.1:p.(Ala45Val)	NC_000009.11:g.100459441G>A	(Likely) benign	1 lab	06c9081f1e
6:159398803 RSPH3 C>T	6	159398803	159398803	C	T	RSPH3	c.1024G>A	NM_031924.8	NP_114130.4:p.(Glu342Lys)	NC_000006.11:g.159398803C>T	(Likely) benign	1 lab	06caef70b9
20:60892782 LAMA5 T>A	20	60892782	60892782	T	A	LAMA5	c.7292A>T	NM_005560.6	NP_005551.3:p.(His2431Leu)	NC_000020.10:g.60892782T>A	(Likely) benign	1 lab	06cb2fafde
2:47702178 MSH2 A>G	2	47702178	47702178	A	G	MSH2	c.1774A>G	NM_000251.3	NP_000242.1:p.(Met592Val)	NC_000002.11:g.47702178A>G	VUS	1 lab	06cbaf81fe
19:21909855 ZNF100 T>C	19	21909855	21909855	T	C	ZNF100	c.1259A>G	NM_173531.4	NP_775802.2:p.(Lys420Arg)	NC_000019.9:g.21909855T>C	VUS	1 lab	06cbe7ba0f
2:107423234 ST6GAL2 A>G	2	107423234	107423234	A	G	ST6GAL2	c.1490T>C	NM_001142351.2	NP_001135823.1:p.(Met497Thr)	NC_000002.11:g.107423234A>G	(Likely) benign	1 lab	06cc0323e7
11:1263125 MUC5B G>T	11	1263125	1263125	G	T	MUC5B	c.5015G>T	NM_002458.3	NP_002449.2:p.(Gly1672Val)	NC_000011.9:g.1263125G>T	(Likely) benign	1 lab	06cd1752e8
14:105843201 PACS2 G>A	14	105843201	105843201	G	A	PACS2	c.898G>A	NM_001100913.3	NP_001094383.2:p.(Asp300Asn)	NC_000014.8:g.105843201G>A	(Likely) benign	1 lab	06cd360f1f
16:343692 AXIN1 G>T	16	343692	343692	G	T	AXIN1	c.1982C>A	NM_003502.4	NP_003493.1:p.(Pro661His)	NC_000016.9:g.343692G>T	(Likely) benign	1 lab	06cec127f9
19:13616911 CACNA1A C>CCGGGCTGCCCGCCCTG	19	13616911	13616928	C	CCGGGCTGCCCGCCCTG	CACNA1A	c.112_127dup	NM_001127222.2	NP_001120694.1:p.(Gly43AlafsTer38)	NC_000019.9:g.13616913_13616928dup	(Likely) pathogenic	1 lab	06cecd4973
19:33076718 PDCD5 T>C	19	33076718	33076718	T	C	PDCD5	c.167-4T>C	NM_004708.4	NP_004699.1:p.?	NC_000019.9:g.33076718T>C	VUS	1 lab	06cf324514
15:72543209 PARP6 G>C	15	72543209	72543209	G	C	PARP6	c.1395C>G	NM_001323532.2	NP_001310461.1:p.(Leu465=)	NC_000015.9:g.72543209G>C	VUS	1 lab	06d16516dc
8:141551305 AGO2 G>C	8	141551305	141551305	G	C	AGO2	c.1992C>G	NM_012154.5	NP_036286.2:p.(Ile664Met)	NC_000008.10:g.141551305G>C	VUS	1 lab	06d21c73de
17:42083546 NAGS C>T	17	42083546	42083546	C	T	NAGS	c.856C>T	NM_153006.3	NP_694551.1:p.(Arg286Trp)	NC_000017.10:g.42083546C>T	(Likely) pathogenic	1 lab	06d314392b
21:44474002 CBS C>G	21	44474002	44474002	C	G	CBS	c.1644G>C	NM_000071.3	NP_000062.1:p.(Arg548=)	NC_000021.8:g.44474002C>G	(Likely) benign	1 lab	06d315d5aa
3:25637910 RARB G>C	3	25637910	25637910	G	C	RARB	c.1151-1G>C	NM_000965.5	NP_000956.2:p.?	NC_000003.11:g.25637910G>C	(Likely) pathogenic	1 lab	19a088f1fe
16:70863682 HYDIN G>C	16	70863682	70863682	G	C	HYDIN	c.13951C>G	NM_001270974.2	NP_001257903.1:p.(Leu4651Val)	NC_000016.9:g.70863682G>C	(Likely) benign	1 lab	06d45174bc
6:169051420 SMOC2 G>T	6	169051420	169051420	G	T	SMOC2	c.967G>T	NM_001166412.2	NP_001159884.1:p.(Asp323Tyr)	NC_000006.11:g.169051420G>T	VUS	1 lab	06d5329fca
16:29908193 SEZ6L2 G>A	16	29908193	29908193	G	A	SEZ6L2	c.461C>T	NM_001243332.2	NP_001230261.1:p.(Thr154Met)	NC_000016.9:g.29908193G>A	VUS	1 lab	06d5f1fab7
3:142226864 ATR C>T	3	142226864	142226864	C	T	ATR	c.4940G>A	NM_001184.4	NP_001175.2:p.(Arg1647His)	NC_000003.11:g.142226864C>T	VUS	1 lab	06d5fc21ae
21:45949746 TSPEAR A>T	21	45949746	45949746	A	T	TSPEAR	c.725T>A	NM_144991.3	NP_659428.2:p.(Ile242Asn)	NC_000021.8:g.45949746A>T	VUS	1 lab	06d7165b7f
21:47851872 PCNT G>A	21	47851872	47851872	G	A	PCNT	c.8494G>A	NM_006031.6	NP_006022.3:p.(Ala2832Thr)	NC_000021.8:g.47851872G>A	VUS	1 lab	19a08f342f
7:96650216 DLX5 G>T	7	96650216	96650216	G	T	DLX5	c.702C>A	NM_005221.6	NP_005212.1:p.(Ser234Arg)	NC_000007.13:g.96650216G>T	(Likely) benign	1 lab	06dbfd7ff0
4:122734442 EXOSC9 C>T	4	122734442	122734442	C	T	EXOSC9	c.881C>T	NM_005033.3	NP_005024.2:p.(Thr294Ile)	NC_000004.11:g.122734442C>T	VUS	1 lab	06dcb71ae8
11:125891160 CDON G>A	11	125891160	125891160	G	A	CDON	c.332C>T	NM_001378964.1	NP_001365893.1:p.(Ala111Val)	NC_000011.9:g.125891160G>A	(Likely) benign	1 lab	06dfa916ec
2:220342728 SPEG G>T	2	220342728	220342728	G	T	SPEG	c.4928G>T	NM_005876.5	NP_005867.3:p.(Arg1643Leu)	NC_000002.11:g.220342728G>T	(Likely) benign	1 lab	1a0680fb2f
18:11886987 MPPE1 C>CGG	18	11886987	11886988	C	CGG	MPPE1	c.606_607insCC	NM_023075.6	NP_075563.3:p.(Gly203ProfsTer20)	NC_000018.9:g.11886987_11886988insGG	VUS	1 lab	06e3a85a77
19:13248093 NACC1 G>A	19	13248093	13248093	G	A	NACC1	c.1129G>A	NM_052876.4	NP_443108.1:p.(Val377Met)	NC_000019.9:g.13248093G>A	VUS	1 lab	19a267c9e1
9:138678301 KCNT1 C>T	9	138678301	138678301	C	T	KCNT1	c.3436C>T	NM_020822.3	NP_065873.2:p.(Arg1146Cys)	NC_000009.11:g.138678301C>T	VUS	1 lab	06e7a4614e
10:76468072 ADK G>T	10	76468072	76468072	G	T	ADK	c.965-7G>T	NM_006721.4	NP_006712.2:p.?	NC_000010.10:g.76468072G>T	(Likely) benign	1 lab	06e7b0687d
15:73635992 HCN4 G>A	15	73635992	73635992	G	A	HCN4	c.943C>T	NM_005477.3	NP_005468.1:p.(Arg315Cys)	NC_000015.9:g.73635992G>A	VUS	1 lab	06e8b69c75
1:152328835 FLG2 G>A	1	152328835	152328835	G	A	FLG2	c.1427C>T	NM_001014342.3	NP_001014364.1:p.(Thr476Ile)	NC_000001.10:g.152328835G>A	VUS	1 lab	06e995b4fc
3:59908119 FHIT G>A	3	59908119	59908119	G	A	FHIT	c.301C>T	NM_002012.4	NP_002003.1:p.(Pro101Ser)	NC_000003.11:g.59908119G>A	(Likely) benign	1 lab	06e9f4ea5d
11:118628295 DDX6 T>C	11	118628295	118628295	T	C	DDX6	c.994-299A>G	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118628295T>C	(Likely) benign	1 lab	06ea3a94b1
17:48263321 COL1A1 G>A	17	48263321	48263321	G	A	COL1A1	c.4066C>T	NM_000088.4	NP_000079.2:p.(Arg1356Cys)	NC_000017.10:g.48263321G>A	VUS	1 lab	06ea6d80be
13:20632711 ZMYM2 A>G	13	20632711	20632711	A	G	ZMYM2	c.2494-4A>G	NM_197968.4	NP_932072.1:p.?	NC_000013.10:g.20632711A>G	(Likely) benign	1 lab	06ea9f0ca6
4:85722834 WDFY3 C>T	4	85722834	85722834	C	T	WDFY3	c.2791G>A	NM_014991.6	NP_055806.2:p.(Ala931Thr)	NC_000004.11:g.85722834C>T	VUS	1 lab	06ed1bf7b6
2:166221759 SCN2A C>G	2	166221759	166221759	C	G	SCN2A	c.3506C>G	NM_001040142.2	NP_001035232.1:p.(Ala1169Gly)	NC_000002.11:g.166221759C>G	VUS	1 lab	06ee26c662
2:113513573 CKAP2L CCTT>C	2	113513573	113513579	CCTT	C	CKAP2L	c.1372_1374del	NM_152515.5	NP_689728.3:p.(Lys458del)	NC_000002.11:g.113513577_113513579del	VUS	1 lab	06f072dce1
3:44285481 TOPAZ1 C>T	3	44285481	44285481	C	T	TOPAZ1	c.1483C>T	NM_001145030.2	NP_001138502.1:p.(Pro495Ser)	NC_000003.11:g.44285481C>T	VUS	1 lab	06f1377d12
17:40095346 ODAD4 G>A	17	40095346	40095346	G	A	ODAD4	c.979G>A	NM_031421.5	NP_113609.1:p.(Gly327Arg)	NC_000017.10:g.40095346G>A	VUS	1 lab	06f3b52d64
12:56349146 PMEL C>T	12	56349146	56349146	C	T	PMEL	c.1763-1G>A	NM_001384361.1	NP_001371290.1:p.?	NC_000012.11:g.56349146C>T	(Likely) benign	1 lab	06f46f904c
9:135947022 CEL C>T	9	135947022	135947022	C	T	CEL	c.2133C>T	NM_001807.6	NP_001798.3:p.(Thr711=)	NC_000009.11:g.135947022C>T	(Likely) benign	1 lab	06f80b34c2
20:2845624 VPS16 C>T	20	2845624	2845624	C	T	VPS16	c.1927C>T	NM_022575.4	NP_072097.2:p.(Arg643Cys)	NC_000020.10:g.2845624C>T	(Likely) benign	1 lab	06f8d488c1
20:19565691 SLC24A3 C>T	20	19565691	19565691	C	T	SLC24A3	c.500C>T	NM_020689.4	NP_065740.2:p.(Ser167Leu)	NC_000020.10:g.19565691C>T	VUS	1 lab	06fa9052f2
17:28445101 NSRP1 T>G	17	28445101	28445101	T	G	NSRP1	c.24T>G	NM_032141.4	NP_115517.1:p.(Tyr8Ter)	NC_000017.10:g.28445101T>G	(Likely) pathogenic	1 lab	06facdfee1
1:120612013 NOTCH2 GC>AA	1	120612013	120612014	GC	AA	NOTCH2	c.7_8delinsTT	NM_024408.4	NP_077719.2:p.(Ala3Phe)	NC_000001.10:g.120612013_120612014delinsAA	VUS	1 lab	06fb7efcb9
X:41394233 CASK C>T	X	41394233	41394233	C	T	CASK	c.2156-7G>A	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41394233C>T	(Likely) benign	1 lab	06fba369b2
15:52664553 MYO5A C>T	15	52664553	52664553	C	T	MYO5A	c.2585G>A	NM_001382347.1	NP_001369276.1:p.(Arg862His)	NC_000015.9:g.52664553C>T	(Likely) benign	1 lab	06fd51aead
22:32270307 DEPDC5 C>T	22	32270307	32270307	C	T	DEPDC5	c.3612C>T	NM_001242896.3	NP_001229825.1:p.(Cys1204=)	NC_000022.10:g.32270307C>T	VUS	1 lab	06fe844e7b
20:407939 RBCK1 G>A	20	407939	407939	G	A	RBCK1	c.904-18G>A	NM_006462.6	NP_006453.1:p.?	NC_000020.10:g.407939G>A	(Likely) benign	1 lab	3799477f01
10:64975211 JMJD1C T>C	10	64975211	64975211	T	C	JMJD1C	c.827A>G	NM_032776.3	NP_116165.1:p.(His276Arg)	NC_000010.10:g.64975211T>C	(Likely) benign	1 lab	070008a575
12:42499645 GXYLT1 G>A	12	42499645	42499645	G	A	GXYLT1	c.839C>T	NM_173601.2	NP_775872.1:p.(Thr280Ile)	NC_000012.11:g.42499645G>A	VUS	1 lab	0700287686
3:48630303 COL7A1 G>A	3	48630303	48630303	G	A	COL7A1	c.751C>T	NM_000094.4	NP_000085.1:p.(Gln251Ter)	NC_000003.11:g.48630303G>A	(Likely) pathogenic	1 lab	07006d1750
8:52361598 PXDNL C>T	8	52361598	52361598	C	T	PXDNL	c.1330G>A	NM_144651.5	NP_653252.4:p.(Gly444Ser)	NC_000008.10:g.52361598C>T	VUS	1 lab	0700e9395a
16:7637249 RBFOX1 C>G	16	7637249	7637249	C	G	RBFOX1	c.415C>G	NM_018723.4	NP_061193.2:p.(Gln139Glu)	NC_000016.9:g.7637249C>G	VUS	1 lab	2ab82a059d
12:95387958 NDUFA12 A>G	12	95387958	95387958	A	G	NDUFA12	c.245T>C	NM_018838.5	NP_061326.1:p.(Val82Ala)	NC_000012.11:g.95387958A>G	VUS	1 lab	07010ded08
18:52885319 MISSING G>T	18	52885319	52885319	G	T	MISSING				NC_000018.9:g.52885319G>T	VUS	1 lab	07cc983643
2:152435942 NEB C>T	2	152435942	152435942	C	T	NEB	c.16614G>A	NM_001164508.2	NP_001157980.2:p.(Val5538=)	NC_000002.11:g.152435942C>T	(Likely) benign	1 lab	070604083f
19:41863852 B9D2 G>T	19	41863852	41863852	G	T	B9D2	c.164C>A	NM_030578.4	NP_085055.2:p.(Ala55Asp)	NC_000019.9:g.41863852G>T	VUS	1 lab	0706d0a051
1:160129256 ATP1A4 AC>A	1	160129256	160129259	AC	A	ATP1A4	c.721del	NM_144699.4	NP_653300.2:p.(His241MetfsTer26)	NC_000001.10:g.160129259del	VUS	1 lab	070962a91c
16:71603836 TAT T>C	16	71603836	71603836	T	C	TAT	c.1046A>G	NM_000353.3	NP_000344.1:p.(Asn349Ser)	NC_000016.9:g.71603836T>C	VUS	1 lab	0709e54b4c
14:45667870 FANCM A>G	14	45667870	45667870	A	G	FANCM	c.5740A>G	NM_020937.4	NP_065988.1:p.(Arg1914Gly)	NC_000014.8:g.45667870A>G	(Likely) benign	1 lab	070a23b311
3:49759384 GMPPB G>C	3	49759384	49759384	G	C	GMPPB	c.951+14C>G	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49759384G>C	(Likely) benign	1 lab	070b25b0b6
19:50361232 PTOV1 C>A	19	50361232	50361232	C	A	PTOV1	c.876C>A	NM_001394010.1	NP_001380939.1:p.(Ile292=)	NC_000019.9:g.50361232C>A	VUS	1 lab	070c8b39bd
22:24709327 SPECC1L C>T	22	24709327	24709327	C	T	SPECC1L	c.200C>T	NM_015330.6	NP_056145.5:p.(Thr67Met)	NC_000022.10:g.24709327C>T	(Likely) benign	1 lab	07144f4a4b
3:124952063 ZNF148 CTTGT>C	3	124952063	124952067	CTTGT	C	ZNF148	c.1503_1506del	NM_021964.3	NP_068799.2:p.(Ala503LeufsTer15)	NC_000003.11:g.124952064_124952067del	(Likely) pathogenic	1 lab	0716aecd02
6:137193335 PEX7 G>T	6	137193335	137193335	G	T	PEX7	c.748-1G>T	NM_000288.4	NP_000279.1:p.?	NC_000006.11:g.137193335G>T	(Likely) benign	1 lab	0717ff639d
6:160978539 LPA C>A	6	160978539	160978539	C	A	LPA	c.4696G>T	NM_005577.4	NP_005568.2:p.(Asp1566Tyr)	NC_000006.11:g.160978539C>A	VUS	1 lab	07184f497f
15:99482490 IGF1R G>C	15	99482490	99482490	G	C	IGF1R	c.3358G>C	NM_000875.5	NP_000866.1:p.(Ala1120Pro)	NC_000015.9:g.99482490G>C	VUS	1 lab	07185bc0f9
11:46921469 LRP4 A>T	11	46921469	46921469	A	T	LRP4	c.375T>A	NM_002334.4	NP_002325.2:p.(Ser125Arg)	NC_000011.9:g.46921469A>T	VUS	1 lab	071887aa2d
18:2763768 SMCHD1 A>G	18	2763768	2763768	A	G	SMCHD1	c.4700A>G	NM_015295.3	NP_056110.2:p.(Asn1567Ser)	NC_000018.9:g.2763768A>G	(Likely) benign	1 lab	07192f164f
8:106814086 ZFPM2 T>C	8	106814086	106814086	T	C	ZFPM2	c.1776T>C	NM_012082.4	NP_036214.2:p.(Pro592=)	NC_000008.10:g.106814086T>C	(Likely) benign	1 lab	0719777fe2
15:89402428 ACAN TCA>T	15	89402428	89402433	TCA	T	ACAN	c.6616_6617del	NM_001369268.1	NP_001356197.1:p.(Thr2206LeufsTer15)	NC_000015.9:g.89402432_89402433del	(Likely) pathogenic	1 lab	0719cb3652
12:675281 NINJ2 C>T	12	675281	675281	C	T	NINJ2	c.97G>A	NM_016533.6	NP_057617.3:p.(Val33Met)	NC_000012.11:g.675281C>T	VUS	1 lab	071b60e5b2
1:36029002 NCDN G>A	1	36029002	36029002	G	A	NCDN	c.1585G>A	NM_014284.3	NP_055099.1:p.(Val529Met)	NC_000001.10:g.36029002G>A	VUS	1 lab	071bc06c0f
4:69681792 UGT2B10 T>C	4	69681792	69681792	T	C	UGT2B10	c.55T>C	NM_001075.6	NP_001066.1:p.(Ser19Pro)	NC_000004.11:g.69681792T>C	(Likely) benign	1 lab	071c603057
17:10235444 MYH13 C>T	17	10235444	10235444	C	T	MYH13	c.2270G>A	NM_003802.3	NP_003793.2:p.(Arg757Gln)	NC_000017.10:g.10235444C>T	VUS	1 lab	071cdbf2a6
17:63554866 AXIN2 AG>A	17	63554866	63554868	AG	A	AXIN2	c.-116-13del	NM_004655.4	NP_004646.3:p.?	NC_000017.10:g.63554868del	(Likely) benign	1 lab	071df7fbd3
7:44193001 GCK C>T	7	44193001	44193001	C	T	GCK	c.107G>A	NM_000162.5	NP_000153.1:p.(Arg36Gln)	NC_000007.13:g.44193001C>T	(Likely) pathogenic	1 lab	071e8ed2cf
11:299391 IFITM5 G>A	11	299391	299391	G	A	IFITM5	c.100C>T	NM_001025295.3	NP_001020466.1:p.(Arg34Ter)	NC_000011.9:g.299391G>A	VUS	1 lab	071ee1168a
22:40660934 TNRC6B A>G	22	40660934	40660934	A	G	TNRC6B	c.700A>G	NM_001162501.2	NP_001155973.1:p.(Ser234Gly)	NC_000022.10:g.40660934A>G	VUS	1 lab	071f85c034
11:64481030 NRXN2 C>T	11	64481030	64481030	C	T	NRXN2	c.142G>A	NM_015080.4	NP_055895.1:p.(Ala48Thr)	NC_000011.9:g.64481030C>T	VUS	1 lab	0720656673
12:57921731 MBD6 TG>T	12	57921731	57921739	TG	T	MBD6	c.2345del	NM_052897.4	NP_443129.3:p.(Gly782GlufsTer13)	NC_000012.11:g.57921739del	VUS	1 lab	0722058fdf
17:11607740 DNAH9 C>T	17	11607740	11607740	C	T	DNAH9	c.5372C>T	NM_001372.4	NP_001363.2:p.(Ala1791Val)	NC_000017.10:g.11607740C>T	(Likely) benign	1 lab	072321143f
1:8384581 SLC45A1 CAA>C	1	8384581	8384583	CAA	C	SLC45A1	c.193_194del	NM_001080397.3	NP_001073866.3:p.(Asn65HisfsTer6)	NC_000001.10:g.8384582_8384583del	(Likely) benign	1 lab	07237d3ac9
X:54815082 ITIH6 C>G	X	54815082	54815082	C	G	ITIH6	c.617G>C	NM_198510.3	NP_940912.1:p.(Ser206Thr)	NC_000023.10:g.54815082C>G	(Likely) benign	1 lab	0723c08a21
19:36212696 KMT2B C>T	19	36212696	36212696	C	T	KMT2B	c.2447C>T	NM_014727.3	NP_055542.1:p.(Ala816Val)	NC_000019.9:g.36212696C>T	VUS	1 lab	0725f46096
20:60898654 LAMA5 G>A	20	60898654	60898654	G	A	LAMA5	c.5922C>T	NM_005560.6	NP_005551.3:p.(Asn1974=)	NC_000020.10:g.60898654G>A	(Likely) benign	1 lab	07274e0c5c
10:104414987 TRIM8 G>A	10	104414987	104414987	G	A	TRIM8	c.817G>A	NM_030912.3	NP_112174.2:p.(Gly273Arg)	NC_000010.10:g.104414987G>A	(Likely) benign	1 lab	0727af060b
16:67984269 SLC12A4 G>A	16	67984269	67984269	G	A	SLC12A4	c.1582C>T	NM_005072.5	NP_005063.1:p.(Arg528Cys)	NC_000016.9:g.67984269G>A	VUS	1 lab	0729297dbe
20:40045257 CHD6 C>T	20	40045257	40045257	C	T	CHD6	c.6457G>A	NM_032221.5	NP_115597.3:p.(Gly2153Ser)	NC_000020.10:g.40045257C>T	(Likely) benign	1 lab	072fefb963
9:135946855 CEL GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC>G	9	135946855	135946980	GCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC	G	CEL	c.2026_2091del	NM_001807.6	NP_001798.3:p.(Ala676_Asp697del)	NC_000009.11:g.135946915_135946980del	(Likely) benign	1 lab	072ff6ef0e
22:24035001 RGL4 G>GCCAGCACCAGCA	22	24035001	24035017	G	GCCAGCACCAGCA	RGL4	c.524_535dup	NM_153615.2	NP_705843.1:p.(Ala175_Pro178dup)	NC_000022.10:g.24035006_24035017dup	VUS	1 lab	0730803703
19:6937658 ADGRE1 C>T	19	6937658	6937658	C	T	ADGRE1	c.2654C>T	NM_001974.5	NP_001965.3:p.(Thr885Met)	NC_000019.9:g.6937658C>T	VUS	1 lab	07316a56a7
4:190989610 MISSING C>A	4	190989610	190989610	C	A	MISSING				NC_000004.11:g.190989610C>A	(Likely) benign	1 lab	07cd823a6b
22:51160124 SHANK3 CCCAGCTGT>C	22	51160124	51160133	CCCAGCTGT	C	SHANK3	c.4090_4097del	NM_001372044.2	NP_001358973.1:p.(Gln1364ValfsTer4)	NC_000022.10:g.51160126_51160133del	(Likely) pathogenic	1 lab	0733070a99
19:18895028 COMP TG>T	19	18895028	18895029	TG	T	COMP	c.2059del	NM_000095.3	NP_000086.2:p.(Gln687SerfsTer?)	NC_000019.9:g.18895029del	VUS	1 lab	0733bd5e65
19:46914833 CCDC8 A>T	19	46914833	46914833	A	T	CCDC8	c.1235T>A	NM_032040.5	NP_114429.2:p.(Val412Glu)	NC_000019.9:g.46914833A>T	(Likely) benign	1 lab	073447b5b5
1:78479008 DNAJB4 A>G	1	78479008	78479008	A	G	DNAJB4	c.485A>G	NM_007034.5	NP_008965.2:p.(His162Arg)	NC_000001.10:g.78479008A>G	VUS	1 lab	073661fc8b
20:50408231 SALL4 A>C	20	50408231	50408231	A	C	SALL4	c.791T>G	NM_020436.5	NP_065169.1:p.(Met264Arg)	NC_000020.10:g.50408231A>C	VUS	1 lab	0739b625a6
1:26508970 CNKSR1 G>A	1	26508970	26508970	G	A	CNKSR1	c.520-1G>A	NM_006314.3	NP_006305.2:p.?	NC_000001.10:g.26508970G>A	VUS	1 lab	073b9934c3
8:144995815 PLEC G>A	8	144995815	144995815	G	A	PLEC	c.8255C>T	NM_000445.5	NP_000436.2:p.(Thr2752Met)	NC_000008.10:g.144995815G>A	VUS	1 lab	19a366e97e
2:10583844 ODC1 C>T	2	10583844	10583844	C	T	ODC1	c.568G>A	NM_002539.3	NP_002530.1:p.(Asp190Asn)	NC_000002.11:g.10583844C>T	(Likely) benign	1 lab	073d5d8572
17:62530860 CEP95 GTC>G	17	62530860	62530863	GTC	G	CEP95	c.2070+7_2070+8del	NM_138363.3	NP_612372.1:p.?	NC_000017.10:g.62530862_62530863del	(Likely) benign	1 lab	073e389e9b
10:46999041 GPRIN2 A>C	10	46999041	46999041	A	C	GPRIN2	c.161A>C	NM_001385282.1	NP_001372211.1:p.(Glu54Ala)	NC_000010.10:g.46999041A>C	VUS	1 lab	073e9bacf4
6:152599283 SYNE1 G>A	6	152599283	152599283	G	A	SYNE1	c.18514C>T	NM_182961.4	NP_892006.3:p.(Leu6172Phe)	NC_000006.11:g.152599283G>A	VUS	1 lab	073f029bb8
8:144995078 PLEC G>A	8	144995078	144995078	G	A	PLEC	c.8911C>T	NM_201384.3	NP_958786.1:p.(Arg2971Trp)	NC_000008.10:g.144995078G>A	VUS	1 lab	07439c9fdb
16:55703498 SLC6A2 C>T	16	55703498	55703498	C	T	SLC6A2	c.296C>T	NM_001172501.3	NP_001165972.1:p.(Thr99Ile)	NC_000016.9:g.55703498C>T	(Likely) benign	1 lab	0745c85284
22:19164101 SLC25A1 G>T	22	19164101	19164101	G	T	SLC25A1	c.737C>A	NM_005984.5	NP_005975.1:p.(Thr246Asn)	NC_000022.10:g.19164101G>T	VUS	1 lab	0746c7bd00
17:65908049 BPTF C>T	17	65908049	65908049	C	T	BPTF	c.4049C>T	NM_182641.4	NP_872579.2:p.(Pro1350Leu)	NC_000017.10:g.65908049C>T	(Likely) benign	1 lab	0747473170
10:76349032 ADK T>A	10	76349032	76349032	T	A	ADK	c.727-8T>A	NM_006721.4	NP_006712.2:p.?	NC_000010.10:g.76349032T>A	(Likely) benign	1 lab	0747bcda2d
15:52659257 MYO5A C>T	15	52659257	52659257	C	T	MYO5A	c.3131G>A	NM_001382347.1	NP_001369276.1:p.(Arg1044His)	NC_000015.9:g.52659257C>T	(Likely) benign	1 lab	074847bf99
21:45750578 CFAP410 AGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG>A	21	45750578	45750644	AGGCCCTGTGAGGCTCCATGCTCCCTCCCCACGG	A	CFAP410	c.642+95_642+127del	NM_004928.3	NP_004919.1:p.?	NC_000021.8:g.45750612_45750644del	(Likely) benign	1 lab	0748853c25
X:25031807 ARX G>T	X	25031807	25031807	G	T	ARX	c.305C>A	NM_139058.3	NP_620689.1:p.(Ala102Glu)	NC_000023.10:g.25031807G>T	VUS	1 lab	19a3744d14
15:74483544 STRA6 C>T	15	74483544	74483544	C	T	STRA6	c.829G>A	NM_022369.4	NP_071764.3:p.(Val277Ile)	NC_000015.9:g.74483544C>T	VUS	1 lab	074b25669a
15:42003382 MGA ACAGCAG>A	15	42003382	42003396	ACAGCAG	A	MGA	c.2928_2933del	NM_001400225.1	NP_001387154.1:p.(Gln980_Gln981del)	NC_000015.9:g.42003391_42003396del	VUS	1 lab	074b610a00
11:134037924 NCAPD3 GACT>G	11	134037924	134037929	GACT	G	NCAPD3	c.3537_3539del	NM_015261.3	NP_056076.1:p.(Val1180del)	NC_000011.9:g.134037927_134037929del	VUS	1 lab	074c35d425
1:173802601 DARS2 G>A	1	173802601	173802601	G	A	DARS2	c.580G>A	NM_018122.5	NP_060592.2:p.(Val194Ile)	NC_000001.10:g.173802601G>A	(Likely) benign	1 lab	074d6eddd4
11:1264091 MUC5B G>A	11	1264091	1264091	G	A	MUC5B	c.5981G>A	NM_002458.3	NP_002449.2:p.(Arg1994His)	NC_000011.9:g.1264091G>A	(Likely) benign	1 lab	074e89daaa
4:77660023 SHROOM3 C>A	4	77660023	77660023	C	A	SHROOM3	c.697C>A	NM_020859.4	NP_065910.3:p.(Pro233Thr)	NC_000004.11:g.77660023C>A	(Likely) benign	1 lab	0750525cca
17:7413348 POLR2A G>A	17	7413348	7413348	G	A	POLR2A	c.3813+397G>A	NM_000937.5	NP_000928.1:p.?	NC_000017.10:g.7413348G>A	(Likely) benign	1 lab	0752882f53
1:16261827 SPEN C>T	1	16261827	16261827	C	T	SPEN	c.9092C>T	NM_015001.3	NP_055816.2:p.(Pro3031Leu)	NC_000001.10:g.16261827C>T	VUS	1 lab	0752ccec14
15:99478675 IGF1R G>T	15	99478675	99478675	G	T	IGF1R	c.3297+20G>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99478675G>T	(Likely) benign	1 lab	075320e986
11:103116017 DYNC2H1 G>A	11	103116017	103116017	G	A	DYNC2H1	c.9956G>A	NM_001377.3	NP_001368.2:p.(Arg3319His)	NC_000011.9:g.103116017G>A	VUS	1 lab	07533f16f4
4:1941404 NSD2 T>C	4	1941404	1941404	T	C	NSD2	c.1780T>C	NM_001042424.3	NP_001035889.1:p.(Cys594Arg)	NC_000004.11:g.1941404T>C	VUS	1 lab	07546ef94b
14:74951148 NPC2 A>C	14	74951148	74951148	A	C	NPC2	c.333T>G	NM_006432.4	NP_006423.1:p.(Asn111Lys)	NC_000014.8:g.74951148A>C	VUS	1 lab	1a0c252efb
2:179462523 TTN C>T	2	179462523	179462523	C	T	TTN	c.57286G>A	NM_001267550.2	NP_001254479.2:p.(Ala19096Thr)	NC_000002.11:g.179462523C>T	VUS	1 lab	0755918c42
12:57638703 STAC3 T>C	12	57638703	57638703	T	C	STAC3	c.716A>G	NM_145064.3	NP_659501.1:p.(Asp239Gly)	NC_000012.11:g.57638703T>C	VUS	1 lab	07563bb139
X:128926741 SASH3 C>T	X	128926741	128926741	C	T	SASH3	c.730C>T	NM_018990.4	NP_061863.1:p.(Arg244Cys)	NC_000023.10:g.128926741C>T	(Likely) benign	1 lab	19a389fd2c
19:13189418 NFIX TC>T	19	13189418	13189424	TC	T	NFIX	c.956-3del	NM_001365902.3	NP_001352831.1:p.?	NC_000019.9:g.13189424del	(Likely) benign	1 lab	0756c1452e
11:17464320 ABCC8 C>A	11	17464320	17464320	C	A	ABCC8	c.1577G>T	NM_000352.6	NP_000343.2:p.(Arg526Leu)	NC_000011.9:g.17464320C>A	(Likely) pathogenic	1 lab	0757cd1227
12:123687517 MPHOSPH9 C>T	12	123687517	123687517	C	T	MPHOSPH9	c.1435G>A	NM_022782.4	NP_073619.3:p.(Val479Ile)	NC_000012.11:g.123687517C>T	(Likely) benign	1 lab	075960ed14
11:105481741 GRIA4 G>C	11	105481741	105481741	G	C	GRIA4	c.17G>C	NM_000829.4	NP_000820.4:p.(Arg6Thr)	NC_000011.9:g.105481741G>C	(Likely) benign	1 lab	075a8fef65
16:89590465 SPG7 G>A	16	89590465	89590465	G	A	SPG7	c.428G>A	NM_003119.4	NP_003110.1:p.(Arg143His)	NC_000016.9:g.89590465G>A	VUS	1 lab	075b5b72eb
19:38934770 RYR1 A>G	19	38934770	38934770	A	G	RYR1	c.425-19A>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38934770A>G	(Likely) benign	1 lab	075c938e2a
2:220422071 OBSL1 C>T	2	220422071	220422071	C	T	OBSL1	c.4060G>A	NM_015311.3	NP_056126.1:p.(Val1354Met)	NC_000002.11:g.220422071C>T	VUS	1 lab	075cc1f0e4
22:38122233 TRIOBP C>T	22	38122233	38122233	C	T	TRIOBP	c.3670C>T	NM_001039141.3	NP_001034230.1:p.(Pro1224Ser)	NC_000022.10:g.38122233C>T	VUS	1 lab	075d1df4c5
4:1807600 FGFR3 C>T	4	1807600	1807600	C	T	FGFR3	c.1769C>T	NM_000142.5	NP_000133.1:p.(Thr590Ile)	NC_000004.11:g.1807600C>T	VUS	1 lab	075df38865
11:62414052 GANAB A>C	11	62414052	62414052	A	C	GANAB	c.20T>G	NM_198334.3	NP_938148.1:p.(Val7Gly)	NC_000011.9:g.62414052A>C	VUS	1 lab	075e69b269
3:129221715 IFT122 G>A	3	129221715	129221715	G	A	IFT122	c.2537G>A	NM_052989.3	NP_443715.1:p.(Arg846His)	NC_000003.11:g.129221715G>A	VUS	1 lab	075e858323
9:130495503 TOR2A G>A	9	130495503	130495503	G	A	TOR2A	c.593+161C>T	NM_001085347.3	NP_001078816.2:p.?	NC_000009.11:g.130495503G>A	VUS	1 lab	075e87df41
8:120569823 ENPP2 G>A	8	120569823	120569823	G	A	ENPP2	c.2530C>T	NM_001040092.3	NP_001035181.1:p.(Arg844Cys)	NC_000008.10:g.120569823G>A	(Likely) benign	1 lab	075f33f844
15:34137199 RYR3 G>A	15	34137199	34137199	G	A	RYR3	c.13433G>A	NM_001036.6	NP_001027.3:p.(Arg4478His)	NC_000015.9:g.34137199G>A	VUS	1 lab	0760bf454a
5:55264100 IL6ST G>A	5	55264100	55264100	G	A	IL6ST	c.491+4C>T	NM_002184.4	NP_002175.2:p.?	NC_000005.9:g.55264100G>A	(Likely) benign	1 lab	0761e224f8
X:154774798 TMLHE T>C	X	154774798	154774798	T	C	TMLHE	c.140A>G	NM_018196.4	NP_060666.1:p.(Lys47Arg)	NC_000023.10:g.154774798T>C	(Likely) benign	1 lab	0761ea7a2a
3:32181821 GPD1L T>C	3	32181821	32181821	T	C	GPD1L	c.468T>C	NM_015141.3	NP_055956.1:p.(Asn156=)	NC_000003.11:g.32181821T>C	(Likely) benign	1 lab	3798c029c1
2:54856099 SPTBN1 C>T	2	54856099	54856099	C	T	SPTBN1	c.1828C>T	NM_003128.3	NP_003119.2:p.(Arg610Ter)	NC_000002.11:g.54856099C>T	(Likely) pathogenic	1 lab	19a5f78e35
12:49424500 KMT2D G>T	12	49424500	49424500	G	T	KMT2D	c.13723C>A	NM_003482.4	NP_003473.3:p.(Leu4575Ile)	NC_000012.11:g.49424500G>T	VUS	1 lab	0766f4983e
19:1104878 GPX4 C>T	19	1104878	1104878	C	T	GPX4	c.85-307C>T	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1104878C>T	VUS	1 lab	07680ec5c5
5:179306072 TBC1D9B C>A	5	179306072	179306072	C	A	TBC1D9B	c.1542G>T	NM_015043.4	NP_055858.2:p.(Arg514=)	NC_000005.9:g.179306072C>A	(Likely) benign	1 lab	07682c20ec
5:176700228 NSD1 C>G	5	176700228	176700228	C	G	NSD1	c.5510-445C>G	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176700228C>G	(Likely) benign	1 lab	0769695646
11:8660263 TRIM66 G>A	11	8660263	8660263	G	A	TRIM66	c.2248C>T	NM_001388022.1	NP_001374951.1:p.(Pro750Ser)	NC_000011.9:g.8660263G>A	(Likely) benign	1 lab	076d8f705c
1:19566410 EMC1 C>T	1	19566410	19566410	C	T	EMC1	c.856G>A	NM_015047.3	NP_055862.1:p.(Ala286Thr)	NC_000001.10:g.19566410C>T	(Likely) benign	1 lab	076e3a3f08
12:46215259 ARID2 G>A	12	46215259	46215259	G	A	ARID2	c.694G>A	NM_152641.4	NP_689854.2:p.(Asp232Asn)	NC_000012.11:g.46215259G>A	(Likely) benign	1 lab	076e611eb1
16:2147186 PKD1 G>A	16	2147186	2147186	G	A	PKD1	c.10462C>T	NM_001009944.3	NP_001009944.3:p.(Gln3488Ter)	NC_000016.9:g.2147186G>A	(Likely) pathogenic	1 lab	077164efb3
6:51890841 PKHD1 TG>T	6	51890841	51890847	TG	T	PKHD1	c.3766del	NM_138694.4	NP_619639.3:p.(Gln1256ArgfsTer47)	NC_000006.11:g.51890847del	VUS	1 lab	07729caf19
8:55372258 SOX17 A>ACACCAG	8	55372258	55372287	A	ACACCAG	SOX17	c.972_977dup	NM_022454.4	NP_071899.1:p.(Gln324_His325dup)	NC_000008.10:g.55372282_55372287dup	(Likely) benign	1 lab	0774b28c9f
7:31009538 GHRHR C>G	7	31009538	31009538	C	G	GHRHR	c.325C>G	NM_000823.4	NP_000814.2:p.(Pro109Ala)	NC_000007.13:g.31009538C>G	(Likely) benign	1 lab	0774cc3d08
15:54624318 UNC13C A>G	15	54624318	54624318	A	G	UNC13C	c.4494+9A>G	NM_001080534.3	NP_001074003.1:p.?	NC_000015.9:g.54624318A>G	(Likely) benign	1 lab	077524bc15
2:179447247 TTN G>A	2	179447247	179447247	G	A	TTN	c.65936C>T	NM_001267550.2	NP_001254479.2:p.(Pro21979Leu)	NC_000002.11:g.179447247G>A	VUS	1 lab	0775a57dcf
2:27151117 DPYSL5 A>T	2	27151117	27151117	A	T	DPYSL5	c.601-6A>T	NM_020134.4	NP_064519.2:p.?	NC_000002.11:g.27151117A>T	VUS	1 lab	0775f4c4c4
21:43231099 PRDM15 C>T	21	43231099	43231099	C	T	PRDM15	c.2476+10G>A	NM_001040424.3	NP_001035514.2:p.?	NC_000021.8:g.43231099C>T	VUS	1 lab	077770d3f2
3:47454419 PTPN23 T>C	3	47454419	47454419	T	C	PTPN23	c.4655T>C	NM_015466.4	NP_056281.1:p.(Leu1552Pro)	NC_000003.11:g.47454419T>C	(Likely) benign	1 lab	077793e375
5:36986350 NIPBL A>G	5	36986350	36986350	A	G	NIPBL	c.3068A>G	NM_133433.4	NP_597677.2:p.(Lys1023Arg)	NC_000005.9:g.36986350A>G	VUS	1 lab	0777eb7a35
5:127800620 FBN2 A>G	5	127800620	127800620	A	G	FBN2	c.629-6T>C	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127800620A>G	(Likely) benign	1 lab	07794d8b04
12:81112634 MYF5 C>T	12	81112634	81112634	C	T	MYF5	c.578-6C>T	NM_005593.3	NP_005584.2:p.?	NC_000012.11:g.81112634C>T	(Likely) benign	1 lab	077b6a9873
8:110393632 PKHD1L1 T>A	8	110393632	110393632	T	A	PKHD1L1	c.197T>A	NM_177531.6	NP_803875.2:p.(Val66Asp)	NC_000008.10:g.110393632T>A	(Likely) benign	1 lab	077b99e041
5:149921141 NDST1 G>A	5	149921141	149921141	G	A	NDST1	c.1759G>A	NM_001543.5	NP_001534.1:p.(Glu587Lys)	NC_000005.9:g.149921141G>A	VUS	1 lab	077b9dabb5
10:89468973 PAPSS2 C>T	10	89468973	89468973	C	T	PAPSS2	c.48C>T	NM_001015880.2	NP_001015880.1:p.(Thr16=)	NC_000010.10:g.89468973C>T	(Likely) benign	1 lab	077d047148
11:6652849 DCHS1 G>C	11	6652849	6652849	G	C	DCHS1	c.3673C>G	NM_003737.4	NP_003728.1:p.(Gln1225Glu)	NC_000011.9:g.6652849G>C	(Likely) benign	1 lab	077e163682
12:132426176 PUS1 G>A	12	132426176	132426176	G	A	PUS1	c.884G>A	NM_025215.6	NP_079491.2:p.(Arg295Gln)	NC_000012.11:g.132426176G>A	(Likely) pathogenic	1 lab	077e3e7f4d
14:64902353 MTHFD1 T>C	14	64902353	64902353	T	C	MTHFD1	c.1561T>C	NM_005956.4	NP_005947.3:p.(Leu521=)	NC_000014.8:g.64902353T>C	(Likely) benign	1 lab	1a0ef88d71
7:47930280 PKD1L1 C>T	7	47930280	47930280	C	T	PKD1L1	c.2535G>A	NM_138295.5	NP_612152.1:p.(Ala845=)	NC_000007.13:g.47930280C>T	(Likely) benign	1 lab	077fb9f30a
19:42879809 MEGF8 C>T	19	42879809	42879809	C	T	MEGF8	c.7420C>T	NM_001271938.2	NP_001258867.1:p.(Arg2474Cys)	NC_000019.9:g.42879809C>T	VUS	1 lab	07809a4264
7:151860499 KMT2C T>C	7	151860499	151860499	T	C	KMT2C	c.10163A>G	NM_170606.3	NP_733751.2:p.(Asn3388Ser)	NC_000007.13:g.151860499T>C	(Likely) benign	1 lab	0780d392a6
17:16001794 NCOR1 A>G	17	16001794	16001794	A	G	NCOR1	c.2707T>C	NM_006311.4	NP_006302.2:p.(Ser903Pro)	NC_000017.10:g.16001794A>G	(Likely) benign	1 lab	07814be677
15:66995704 SMAD6 TG>T	15	66995704	66995707	TG	T	SMAD6	c.111del	NM_005585.5	NP_005576.3:p.(Ser38AlafsTer26)	NC_000015.9:g.66995707del	VUS	1 lab	0782865b4c
19:7584555 ZNF358 G>C	19	7584555	7584555	G	C	ZNF358	c.427G>C	NM_018083.5	NP_060553.4:p.(Ala143Pro)	NC_000019.9:g.7584555G>C	(Likely) benign	1 lab	0783bac886
X:151138744 GABRE T>G	X	151138744	151138744	T	G	GABRE	c.187A>C	NM_004961.4	NP_004952.2:p.(Ser63Arg)	NC_000023.10:g.151138744T>G	(Likely) benign	1 lab	07846820a7
21:45706023 AIRE TG>T	21	45706023	45706026	TG	T	AIRE	c.132+5del	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45706026del	VUS	1 lab	0784ebdb8e
15:45695673 AFG2B C>T	15	45695673	45695673	C	T	AFG2B	c.1046C>T	NM_024063.3	NP_076968.2:p.(Ala349Val)	NC_000015.9:g.45695673C>T	VUS	1 lab	0785890172
13:110817316 COL4A1 G>T	13	110817316	110817316	G	T	COL4A1	c.4043C>A	NM_001845.6	NP_001836.3:p.(Pro1348His)	NC_000013.10:g.110817316G>T	VUS	1 lab	0785b32917
22:30690006 TBC1D10A G>A	22	30690006	30690006	G	A	TBC1D10A	c.799C>T	NM_031937.3	NP_114143.1:p.(Pro267Ser)	NC_000022.10:g.30690006G>A	VUS	1 lab	0786953c79
8:43047526 HGSNAT C>T	8	43047526	43047526	C	T	HGSNAT	c.1330C>T	NM_152419.3	NP_689632.2:p.(Arg444Cys)	NC_000008.10:g.43047526C>T	VUS	1 lab	0787719362
16:7568219 RBFOX1 C>T	16	7568219	7568219	C	T	RBFOX1	c.98C>T	NM_018723.4	NP_061193.2:p.(Pro33Leu)	NC_000016.9:g.7568219C>T	VUS	1 lab	07877a0054
11:17415245 ABCC8 G>A	11	17415245	17415245	G	A	ABCC8	c.4607C>T	NM_000352.6	NP_000343.2:p.(Ala1536Val)	NC_000011.9:g.17415245G>A	VUS	1 lab	0787abea25
15:89389045 ACAN C>T	15	89389045	89389045	C	T	ACAN	c.1361C>T	NM_001369268.1	NP_001356197.1:p.(Thr454Met)	NC_000015.9:g.89389045C>T	(Likely) benign	1 lab	0788106c2c
X:35985829 CFAP47 C>T	X	35985829	35985829	C	T	CFAP47	c.1694C>T	NM_001304548.2	NP_001291477.1:p.(Ser565Leu)	NC_000023.10:g.35985829C>T	VUS	1 lab	0789ae3be0
11:823735 PNPLA2 G>C	11	823735	823735	G	C	PNPLA2	c.799G>C	NM_020376.4	NP_065109.1:p.(Ala267Pro)	NC_000011.9:g.823735G>C	(Likely) benign	1 lab	0789e328aa
16:2154530 PKD1 G>A	16	2154530	2154530	G	A	PKD1	c.8130C>T	NM_001009944.3	NP_001009944.3:p.(Thr2710=)	NC_000016.9:g.2154530G>A	(Likely) benign	1 lab	078b293d13
3:33055642 GLB1 G>A	3	33055642	33055642	G	A	GLB1	c.1640C>T	NM_000404.4	NP_000395.3:p.(Thr547Met)	NC_000003.11:g.33055642G>A	(Likely) benign	1 lab	078c27a897
4:114284614 ANK2 A>C	4	114284614	114284614	A	C	ANK2	c.10877A>C	NM_001148.6	NP_001139.3:p.(Lys3626Thr)	NC_000004.11:g.114284614A>C	VUS	1 lab	078c94cb11
7:91690611 AKAP9 G>A	7	91690611	91690611	G	A	AKAP9	c.5639G>A	NM_005751.5	NP_005742.4:p.(Arg1880His)	NC_000007.13:g.91690611G>A	VUS	1 lab	078e9cb4bd
10:89475572 PAPSS2 G>A	10	89475572	89475572	G	A	PAPSS2	c.837G>A	NM_001015880.2	NP_001015880.1:p.(Gln279=)	NC_000010.10:g.89475572G>A	(Likely) benign	1 lab	078ef5b3eb
16:3830818 CREBBP C>T	16	3830818	3830818	C	T	CREBBP	c.1738G>A	NM_004380.3	NP_004371.2:p.(Ala580Thr)	NC_000016.9:g.3830818C>T	VUS	1 lab	07907ccee7
19:18279529 PIK3R2 A>C	19	18279529	18279529	A	C	PIK3R2	c.1809-7A>C	NM_005027.4	NP_005018.2:p.?	NC_000019.9:g.18279529A>C	(Likely) benign	1 lab	07926cb1d8
7:140439609 BRAF T>C	7	140439609	140439609	T	C	BRAF	c.2127+3A>G	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140439609T>C	(Likely) benign	1 lab	19a763049b
16:67645858 CTCF AAAG>A	16	67645858	67645865	AAAG	A	CTCF	c.791_793del	NM_006565.4	NP_006556.1:p.(Lys264del)	NC_000016.9:g.67645863_67645865del	VUS	1 lab	0793ffeca6
20:34807726 EPB41L1 C>T	20	34807726	34807726	C	T	EPB41L1	c.2399C>T	NM_012156.2	NP_036288.2:p.(Ala800Val)	NC_000020.10:g.34807726C>T	(Likely) benign	1 lab	07953fd00a
16:89759876 CDK10 G>A	16	89759876	89759876	G	A	CDK10	c.608+1G>A	NM_052988.5	NP_443714.3:p.?	NC_000016.9:g.89759876G>A	(Likely) pathogenic	1 lab	19a90b742c
2:179629499 TTN A>T	2	179629499	179629499	A	T	TTN	c.9743T>A	NM_001267550.2	NP_001254479.2:p.(Val3248Asp)	NC_000002.11:g.179629499A>T	VUS	1 lab	079c2bbdee
17:680120 GLOD4 G>A	17	680120	680120	G	A	GLOD4	c.249C>T	NM_016080.4	NP_057164.3:p.(Gly83=)	NC_000017.10:g.680120G>A	VUS	1 lab	07c0df22e2
17:31619084 ASIC2 G>A	17	31619084	31619084	G	A	ASIC2	c.50C>T	NM_183377.2	NP_899233.1:p.(Pro17Leu)	NC_000017.10:g.31619084G>A	(Likely) benign	1 lab	079cd8351c
14:91779989 CCDC88C G>A	14	91779989	91779989	G	A	CCDC88C	c.2171C>T	NM_001080414.4	NP_001073883.2:p.(Ala724Val)	NC_000014.8:g.91779989G>A	(Likely) benign	1 lab	19aa5be33c
7:44189371 GCK C>G	7	44189371	44189371	C	G	GCK	c.667G>C	NM_000162.5	NP_000153.1:p.(Gly223Arg)	NC_000007.13:g.44189371C>G	(Likely) pathogenic	1 lab	07a0cbb9de
17:36093672 HNF1B CTTG>C	17	36093672	36093678	CTTG	C	HNF1B	c.684_686del	NM_000458.4	NP_000449.1:p.(Asn228del)	NC_000017.10:g.36093676_36093678del	VUS	1 lab	07a0fd8c34
15:40591174 PLCB2 CAG>C	15	40591174	40591181	CAG	C	PLCB2	c.684-11_684-10del	NM_004573.3	NP_004564.2:p.?	NC_000015.9:g.40591180_40591181del	(Likely) benign	1 lab	07a3e84a81
X:153248024 TMEM187 G>A	X	153248024	153248024	G	A	TMEM187	c.511G>A	NM_003492.3	NP_003483.1:p.(Val171Met)	NC_000023.10:g.153248024G>A	(Likely) benign	1 lab	07a518a216
2:167168079 SCN9A T>C	2	167168079	167168079	T	C	SCN9A	c.188A>G	NM_001365536.1	NP_001352465.1:p.(Tyr63Cys)	NC_000002.11:g.167168079T>C	VUS	1 lab	07a5a53201
14:105416608 AHNAK2 G>A	14	105416608	105416608	G	A	AHNAK2	c.5180C>T	NM_138420.4	NP_612429.2:p.(Pro1727Leu)	NC_000014.8:g.105416608G>A	(Likely) benign	1 lab	07a5e13704
9:116135933 HDHD3 CAG>C	9	116135933	116135939	CAG	C	HDHD3	c.700_701del	NM_001304509.2	NP_001291438.1:p.(Leu234GlyfsTer8)	NC_000009.11:g.116135938_116135939del	VUS	1 lab	07a7888cc8
17:26666588 TNFAIP1 A>C	17	26666588	26666588	A	C	TNFAIP1	c.41A>C	NM_021137.5	NP_066960.1:p.(Lys14Thr)	NC_000017.10:g.26666588A>C	VUS	1 lab	07a805d46e
16:2168292 PKD1 G>A	16	2168292	2168292	G	A	PKD1	c.701C>T	NM_001009944.3	NP_001009944.3:p.(Ala234Val)	NC_000016.9:g.2168292G>A	VUS	1 lab	07a80f924b
13:111082291 COL4A2 C>T	13	111082291	111082291	C	T	COL4A2	c.537C>T	NM_001846.4	NP_001837.2:p.(Arg179=)	NC_000013.10:g.111082291C>T	(Likely) benign	1 lab	07a8498202
1:54060377 GLIS1 C>T	1	54060377	54060377	C	T	GLIS1	c.724G>A	NM_001367484.1	NP_001354413.1:p.(Val242Ile)	NC_000001.10:g.54060377C>T	VUS	1 lab	07ad57fd66
1:203008143 PPFIA4 G>A	1	203008143	203008143	G	A	PPFIA4	c.7G>A	NM_001304331.2	NP_001291260.1:p.(Glu3Lys)	NC_000001.10:g.203008143G>A	(Likely) benign	1 lab	07ada895c7
3:134269053 CEP63 G>A	3	134269053	134269053	G	A	CEP63	c.1331G>A	NM_001353108.3	NP_001340037.1:p.(Arg444Gln)	NC_000003.11:g.134269053G>A	(Likely) benign	1 lab	07ae613932
16:2150308 PKD1 GC>G	16	2150308	2150311	GC	G	PKD1	c.9570del	NM_001009944.3	NP_001009944.3:p.(Leu3191SerfsTer125)	NC_000016.9:g.2150311del	(Likely) pathogenic	1 lab	07af35e673
11:64622868 EHD1 C>T	11	64622868	64622868	C	T	EHD1	c.1006G>A	NM_006795.4	NP_006786.2:p.(Gly336Arg)	NC_000011.9:g.64622868C>T	VUS	1 lab	07b1773130
4:82074580 PRKG2 C>A	4	82074580	82074580	C	A	PRKG2	c.990+218G>T	NM_006259.3	NP_006250.1:p.?	NC_000004.11:g.82074580C>A	(Likely) benign	1 lab	07b1d86711
6:101253686 ASCC3 A>C	6	101253686	101253686	A	C	ASCC3	c.872T>G	NM_006828.4	NP_006819.2:p.(Val291Gly)	NC_000006.11:g.101253686A>C	VUS	1 lab	07b236d766
7:158719739 DYNC2I1 C>A	7	158719739	158719739	C	A	DYNC2I1	c.2485+5C>A	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158719739C>A	(Likely) benign	1 lab	07b3146e05
16:20997038 DNAH3 C>T	16	20997038	20997038	C	T	DNAH3	c.6889-1G>A	NM_001347886.2	NP_001334815.1:p.?	NC_000016.9:g.20997038C>T	VUS	1 lab	07b589b821
1:152281645 FLG G>T	1	152281645	152281645	G	T	FLG	c.5717C>A	NM_002016.2	NP_002007.1:p.(Ser1906Ter)	NC_000001.10:g.152281645G>T	VUS	1 lab	07b69d0d83
1:181452652 MISSING C>A	1	181452652	181452652	C	A	MISSING				NC_000001.10:g.181452652C>A	VUS	1 lab	07b98da5b6
6:51930886 PKHD1 T>TAA	6	51930886	51930900	T	TAA	PKHD1	c.779-13_779-12dup	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51930899_51930900dup	(Likely) benign	1 lab	07b9cc423c
4:6598944 MAN2B2 C>T	4	6598944	6598944	C	T	MAN2B2	c.1162C>T	NM_015274.3	NP_056089.1:p.(Arg388Cys)	NC_000004.11:g.6598944C>T	VUS	1 lab	07bb5e34e5
X:76937961 ATRX C>G	X	76937961	76937961	C	G	ATRX	c.2787G>C	NM_000489.6	NP_000480.3:p.(Glu929Asp)	NC_000023.10:g.76937961C>G	VUS	1 lab	07bc267756
17:63156678 RGS9 C>T	17	63156678	63156678	C	T	RGS9	c.337C>T	NM_003835.4	NP_003826.2:p.(Gln113Ter)	NC_000017.10:g.63156678C>T	(Likely) pathogenic	1 lab	07bcecad0d
19:1122561 SBNO2 C>T	19	1122561	1122561	C	T	SBNO2	c.915-4G>A	NM_014963.3	NP_055778.2:p.?	NC_000019.9:g.1122561C>T	(Likely) benign	1 lab	07bdbe9927
17:8455395 MYH10 C>A	17	8455395	8455395	C	A	MYH10	c.888G>T	NM_001256012.3	NP_001242941.1:p.(Gln296His)	NC_000017.10:g.8455395C>A	(Likely) benign	1 lab	07be02cfe0
4:3240699 HTT C>T	4	3240699	3240699	C	T	HTT	c.9209C>T	NM_001388492.1	NP_001375421.1:p.(Ala3070Val)	NC_000004.11:g.3240699C>T	VUS	1 lab	07c001aaec
16:227011 HBA1 G>A	16	227011	227011	G	A	HBA1	c.179G>A	NM_000558.5	NP_000549.1:p.(Gly60Asp)	NC_000016.9:g.227011G>A	(Likely) pathogenic	1 lab	07c0ec5b60
6:149699860 TAB2 C>G	6	149699860	149699860	C	G	TAB2	c.809C>G	NM_001292034.3	NP_001278963.1:p.(Ser270Cys)	NC_000006.11:g.149699860C>G	(Likely) benign	1 lab	07c171f356
10:18823055 CACNB2 C>A	10	18823055	18823055	C	A	CACNB2	c.1105C>A	NM_201596.3	NP_963890.2:p.(Gln369Lys)	NC_000010.10:g.18823055C>A	VUS	1 lab	07c2342a2a
22:50437856 IL17REL C>T	22	50437856	50437856	C	T	IL17REL	c.762+4G>A	NM_001371417.1	NP_001358346.1:p.?	NC_000022.10:g.50437856C>T	VUS	1 lab	07c34f1471
19:42866373 MEGF8 G>A	19	42866373	42866373	G	A	MEGF8	c.5844+8G>A	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42866373G>A	(Likely) benign	1 lab	07c6bcd632
1:63003707 DOCK7 G>A	1	63003707	63003707	G	A	DOCK7	c.3326C>T	NM_001367561.1	NP_001354490.1:p.(Pro1109Leu)	NC_000001.10:g.63003707G>A	(Likely) benign	1 lab	07c77e6a89
22:45779397 SMC1B C>G	22	45779397	45779397	C	G	SMC1B	c.2008G>C	NM_148674.5	NP_683515.4:p.(Glu670Gln)	NC_000022.10:g.45779397C>G	VUS	1 lab	07ca400b54
21:45826647 TRPM2 C>T	21	45826647	45826647	C	T	TRPM2	c.2961C>T	NM_003307.4	NP_003298.2:p.(Asp987=)	NC_000021.8:g.45826647C>T	(Likely) benign	1 lab	07ca50b655
5:151046042 SPARC C>A	5	151046042	151046042	C	A	SPARC	c.614G>T	NM_003118.4	NP_003109.1:p.(Arg205Leu)	NC_000005.9:g.151046042C>A	VUS	1 lab	07f80d578d
16:1268385 CACNA1H C>T	16	1268385	1268385	C	T	CACNA1H	c.5621C>T	NM_021098.3	NP_066921.2:p.(Ala1874Val)	NC_000016.9:g.1268385C>T	(Likely) benign	1 lab	07cbdc9a42
5:38482051 LIFR C>G	5	38482051	38482051	C	G	LIFR	c.2940G>C	NM_001127671.2	NP_001121143.1:p.(Met980Ile)	NC_000005.9:g.38482051C>G	VUS	1 lab	07cc6bfdd2
17:40489839 STAT3 G>T	17	40489839	40489839	G	T	STAT3	c.587C>A	NM_139276.3	NP_644805.1:p.(Thr196Asn)	NC_000017.10:g.40489839G>T	VUS	1 lab	07d1001380
5:127700337 FBN2 C>G	5	127700337	127700337	C	G	FBN2	c.2384G>C	NM_001999.4	NP_001990.2:p.(Cys795Ser)	NC_000005.9:g.127700337C>G	VUS	1 lab	07d1cacbb6
5:98204321 CHD1 C>G	5	98204321	98204321	C	G	CHD1	c.4126G>C	NM_001270.4	NP_001261.2:p.(Asp1376His)	NC_000005.9:g.98204321C>G	(Likely) benign	1 lab	07d1fdc694
6:51612921 PKHD1 C>T	6	51612921	51612921	C	T	PKHD1	c.9493G>A	NM_138694.4	NP_619639.3:p.(Val3165Met)	NC_000006.11:g.51612921C>T	(Likely) benign	1 lab	07d2d627e3
2:73118631 SPR A>T	2	73118631	73118631	A	T	SPR	c.751A>T	NM_003124.5	NP_003115.1:p.(Lys251Ter)	NC_000002.11:g.73118631A>T	(Likely) pathogenic	1 lab	07d692f0ff
22:41940440 POLR3H A>G	22	41940440	41940440	A	G	POLR3H	c.-335T>C	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41940440A>G	(Likely) benign	1 lab	07d6a3c16e
15:65321935 MTFMT C>G	15	65321935	65321935	C	G	MTFMT	c.17G>C	NM_139242.4	NP_640335.2:p.(Arg6Pro)	NC_000015.9:g.65321935C>G	VUS	1 lab	07d7abfdd3
13:102047641 NALCN C>T	13	102047641	102047641	C	T	NALCN	c.184G>A	NM_052867.4	NP_443099.1:p.(Glu62Lys)	NC_000013.10:g.102047641C>T	VUS	1 lab	07d7cd5347
14:31782394 HEATR5A G>A	14	31782394	31782394	G	A	HEATR5A	c.4221C>T	NM_015473.4	NP_056288.2:p.(Val1407=)	NC_000014.8:g.31782394G>A	(Likely) benign	1 lab	07da57e60b
12:7355269 PEX5 T>C	12	7355269	7355269	T	C	PEX5	c.815T>C	NM_001351132.2	NP_001338061.1:p.(Met272Thr)	NC_000012.11:g.7355269T>C	(Likely) benign	1 lab	07dd937b39
10:96044602 PLCE1 C>T	10	96044602	96044602	C	T	PLCE1	c.4918-3C>T	NM_016341.4	NP_057425.3:p.?	NC_000010.10:g.96044602C>T	VUS	1 lab	07de818905
6:30882990 VARS2 C>T	6	30882990	30882990	C	T	VARS2	c.259C>T	NM_020442.6	NP_065175.4:p.(Pro87Ser)	NC_000006.11:g.30882990C>T	VUS	1 lab	07df9fe8e9
11:72297209 PDE2A C>T	11	72297209	72297209	C	T	PDE2A	c.1087G>A	NM_002599.5	NP_002590.1:p.(Glu363Lys)	NC_000011.9:g.72297209C>T	(Likely) benign	1 lab	07e0ae3de6
3:58062982 FLNB G>A	3	58062982	58062982	G	A	FLNB	c.502G>A	NM_001164317.2	NP_001157789.1:p.(Gly168Ser)	NC_000003.11:g.58062982G>A	(Likely) pathogenic	1 lab	1a1166514f
6:170593067 DLL1 C>T	6	170593067	170593067	C	T	DLL1	c.1300G>A	NM_005618.4	NP_005609.3:p.(Gly434Ser)	NC_000006.11:g.170593067C>T	VUS	1 lab	07e2f7fe67
8:110432891 PKHD1L1 T>C	8	110432891	110432891	T	C	PKHD1L1	c.2669T>C	NM_177531.6	NP_803875.2:p.(Ile890Thr)	NC_000008.10:g.110432891T>C	VUS	1 lab	07e42339d7
11:47828607 NUP160 T>C	11	47828607	47828607	T	C	NUP160	c.2446+15A>G	NM_015231.2	NP_056046.1:p.?	NC_000011.9:g.47828607T>C	(Likely) benign	1 lab	1a131f3f9f
6:30994889 MUC22 A>G	6	30994889	30994889	A	G	MUC22	c.1681A>G	NM_001395414.1	NP_001382343.1:p.(Ile561Val)	NC_000006.11:g.30994889A>G	VUS	1 lab	07e81af05b
12:103352122 ASCL1 ACGGCCGCAGCCGCGG>A	12	103352122	103352150	ACGGCCGCAGCCGCGG	A	ASCL1	c.114_128del	NM_004316.4	NP_004307.2:p.(Ala43_Ala47del)	NC_000012.11:g.103352136_103352150del	(Likely) benign	1 lab	07e823a89c
9:139391355 NOTCH1 G>A	9	139391355	139391355	G	A	NOTCH1	c.6836C>T	NM_017617.5	NP_060087.3:p.(Ala2279Val)	NC_000009.11:g.139391355G>A	(Likely) benign	1 lab	1a1360e231
6:83880088 PGM3 C>T	6	83880088	83880088	C	T	PGM3	c.1475G>A	NM_015599.3	NP_056414.1:p.(Arg492Gln)	NC_000006.11:g.83880088C>T	VUS	1 lab	0842d40828
18:77246818 NFATC1 C>T	18	77246818	77246818	C	T	NFATC1	c.2663C>T	NM_001278669.2	NP_001265598.1:p.(Pro888Leu)	NC_000018.9:g.77246818C>T	(Likely) benign	1 lab	07ee1df872
6:74320123 SLC17A5 G>A	6	74320123	74320123	G	A	SLC17A5	c.1259C>T	NM_012434.5	NP_036566.1:p.(Ser420Leu)	NC_000006.11:g.74320123G>A	VUS	1 lab	07ef2703de
18:29126441 DSG2 C>CT	18	29126441	29126442	C	CT	DSG2	c.3093dup	NM_001943.5	NP_001934.2:p.(Thr1032TyrfsTer6)	NC_000018.9:g.29126442dup	VUS	1 lab	07ef91df9c
4:1343434 UVSSA A>G	4	1343434	1343434	A	G	UVSSA	c.221A>G	NM_020894.4	NP_065945.2:p.(Gln74Arg)	NC_000004.11:g.1343434A>G	(Likely) benign	1 lab	07ef94b126
4:134071564 PCDH10 C>G	4	134071564	134071564	C	G	PCDH10	c.269C>G	NM_032961.3	NP_116586.1:p.(Ser90Cys)	NC_000004.11:g.134071564C>G	VUS	1 lab	07f079b30c
17:1629635 WDR81 C>T	17	1629635	1629635	C	T	WDR81	c.1382C>T	NM_001163809.2	NP_001157281.1:p.(Ser461Leu)	NC_000017.10:g.1629635C>T	VUS	1 lab	07f1f6e8ba
2:33505098 LTBP1 T>G	2	33505098	33505098	T	G	LTBP1	c.2993-8T>G	NM_206943.4	NP_996826.3:p.?	NC_000002.11:g.33505098T>G	VUS	1 lab	07f3d5deab
X:47426442 ARAF G>T	X	47426442	47426442	G	T	ARAF	c.785G>T	NM_001654.5	NP_001645.1:p.(Ser262Ile)	NC_000023.10:g.47426442G>T	(Likely) benign	1 lab	07f3e5fcbf
22:24743075 SPECC1L A>G	22	24743075	24743075	A	G	SPECC1L	c.2674A>G	NM_015330.6	NP_056145.5:p.(Ile892Val)	NC_000022.10:g.24743075A>G	(Likely) benign	1 lab	07f562b845
21:44476981 CBS G>A	21	44476981	44476981	G	A	CBS	c.1484C>T	NM_000071.3	NP_000062.1:p.(Thr495Met)	NC_000021.8:g.44476981G>A	VUS	1 lab	07f6148dbe
2:29917736 ALK C>T	2	29917736	29917736	C	T	ALK	c.932G>A	NM_004304.5	NP_004295.2:p.(Arg311His)	NC_000002.11:g.29917736C>T	VUS	1 lab	19ac1284c1
1:120458570 NOTCH2 C>T	1	120458570	120458570	C	T	NOTCH2	c.6775G>A	NM_024408.4	NP_077719.2:p.(Val2259Met)	NC_000001.10:g.120458570C>T	(Likely) benign	1 lab	07f6333315
4:149356289 NR3C2 G>A	4	149356289	149356289	G	A	NR3C2	c.1724C>T	NM_000901.5	NP_000892.2:p.(Pro575Leu)	NC_000004.11:g.149356289G>A	VUS	1 lab	07f6bb76f1
3:46009439 FYCO1 C>T	3	46009439	46009439	C	T	FYCO1	c.1387G>A	NM_024513.4	NP_078789.2:p.(Gly463Arg)	NC_000003.11:g.46009439C>T	(Likely) benign	1 lab	07f9f7c45c
X:102754916 RAB40A C>T	X	102754916	102754916	C	T	RAB40A	c.769G>A	NM_080879.3	NP_543155.2:p.(Glu257Lys)	NC_000023.10:g.102754916C>T	(Likely) benign	1 lab	07fa6d9386
15:48760602 FBN1 G>T	15	48760602	48760602	G	T	FBN1	c.4582+7C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48760602G>T	(Likely) benign	1 lab	07fb14c30f
1:23418336 LUZP1 T>C	1	23418336	23418336	T	C	LUZP1	c.2419A>G	NM_033631.4	NP_361013.3:p.(Arg807Gly)	NC_000001.10:g.23418336T>C	VUS	1 lab	19ac2a6f2f
11:681053 DEAF1 G>A	11	681053	681053	G	A	DEAF1	c.907C>T	NM_021008.4	NP_066288.2:p.(Arg303Cys)	NC_000011.9:g.681053G>A	VUS	1 lab	07fc0b0629
8:11995582 USP17L2 C>A	8	11995582	11995582	C	A	USP17L2	c.688G>T	NM_201402.3	NP_958804.2:p.(Ala230Ser)	NC_000008.10:g.11995582C>A	(Likely) benign	1 lab	07fc44f6ca
3:50421663 CACNA2D2 C>T	3	50421663	50421663	C	T	CACNA2D2	c.616G>A	NM_006030.4	NP_006021.2:p.(Ala206Thr)	NC_000003.11:g.50421663C>T	(Likely) benign	1 lab	19ac35f8fa
9:88661440 GOLM1 C>T	9	88661440	88661440	C	T	GOLM1	c.412G>A	NM_016548.4	NP_057632.2:p.(Val138Ile)	NC_000009.11:g.88661440C>T	(Likely) benign	1 lab	07fedcdaa4
15:38643812 SPRED1 C>T	15	38643812	38643812	C	T	SPRED1	c.1282C>T	NM_152594.3	NP_689807.1:p.(Arg428Cys)	NC_000015.9:g.38643812C>T	(Likely) benign	1 lab	07ff0ab8c0
5:149495443 PDGFRB G>A	5	149495443	149495443	G	A	PDGFRB	c.3204C>T	NM_002609.4	NP_002600.1:p.(Asp1068=)	NC_000005.9:g.149495443G>A	(Likely) benign	1 lab	07ff18c49d
19:42799295 CIC G>GGGGGGCC	19	42799295	42799296	G	GGGGGGCC	CIC	c.7506_7507insGGGGGCC	NM_001386298.1	NP_001373227.1:p.(Pro2503GlyfsTer22)	NC_000019.9:g.42799295_42799296insGGGGGCC	VUS	1 lab	07ff880ec0
17:74381722 SPHK1 G>T	17	74381722	74381722	G	T	SPHK1	c.-4G>T	NM_001142601.2	NP_001136073.1:p.?	NC_000017.10:g.74381722G>T	VUS	1 lab	082ec7d56d
4:169414603 PALLD C>T	4	169414603	169414603	C	T	PALLD				NC_000004.11:g.169414603C>T	(Likely) benign	1 lab	2afaea8fe6
6:31380157 MICA TGCTG>T	6	31380157	31380165	TGCTG	T	MICA	c.953_956del	NM_001177519.3	NP_001170990.1:p.(Gly318AlafsTer67)	NC_000006.11:g.31380162_31380165del	VUS	1 lab	08031217bc
11:17409573 KCNJ11 G>A	11	17409573	17409573	G	A	KCNJ11	c.66C>T	NM_000525.4	NP_000516.3:p.(Ala22=)	NC_000011.9:g.17409573G>A	(Likely) benign	1 lab	08042fbf16
1:68512935 DIRAS3 G>A	1	68512935	68512935	G	A	DIRAS3	c.46C>T	NM_004675.4	NP_004666.1:p.(Arg16Trp)	NC_000001.10:g.68512935G>A	(Likely) benign	1 lab	0804efaba2
2:179423175 TTN C>T	2	179423175	179423175	C	T	TTN	c.87011G>A	NM_001267550.2	NP_001254479.2:p.(Gly29004Asp)	NC_000002.11:g.179423175C>T	VUS	1 lab	0804fa0b57
4:995540 IDUA C>G	4	995540	995540	C	G	IDUA	c.663C>G	NM_000203.5	NP_000194.2:p.(Pro221=)	NC_000004.11:g.995540C>G	(Likely) benign	1 lab	080819954f
15:52632591 MYO5A C>A	15	52632591	52632591	C	A	MYO5A	c.4041G>T	NM_001382347.1	NP_001369276.1:p.(Arg1347Ser)	NC_000015.9:g.52632591C>A	VUS	1 lab	08082bc0ae
20:43058245 HNF4A A>G	20	43058245	43058245	A	G	HNF4A	c.1365A>G	NM_000457.5	NP_000448.3:p.(Thr455=)	NC_000020.10:g.43058245A>G	(Likely) benign	1 lab	080845bfa8
12:6635770 NCAPD2 A>T	12	6635770	6635770	A	T	NCAPD2	c.2723A>T	NM_014865.4	NP_055680.3:p.(Gln908Leu)	NC_000012.11:g.6635770A>T	VUS	1 lab	0808faf76c
2:112566589 ANAPC1 C>T	2	112566589	112566589	C	T	ANAPC1	c.3767G>A	NM_022662.4	NP_073153.1:p.(Gly1256Asp)	NC_000002.11:g.112566589C>T	VUS	1 lab	08099a0758
11:61978008 SCGB2A1 G>A	11	61978008	61978008	G	A	SCGB2A1	c.179G>A	NM_002407.3	NP_002398.1:p.(Gly60Glu)	NC_000011.9:g.61978008G>A	VUS	1 lab	0809b6109e
12:57994655 PIP4K2C G>A	12	57994655	57994655	G	A	PIP4K2C	c.875G>A	NM_024779.5	NP_079055.3:p.(Arg292Gln)	NC_000012.11:g.57994655G>A	(Likely) benign	1 lab	080a063233
3:58106996 FLNB C>G	3	58106996	58106996	C	G	FLNB	c.2892C>G	NM_001457.4	NP_001448.2:p.(Phe964Leu)	NC_000003.11:g.58106996C>G	VUS	1 lab	086201b07d
10:73566005 CDH23 CG>C	10	73566005	73566006	CG	C	CDH23	c.8146del	NM_022124.6	NP_071407.4:p.(Asp2716MetfsTer8)	NC_000010.10:g.73566006del	(Likely) pathogenic	1 lab	080b096489
6:43193580 DNPH1 C>T	6	43193580	43193580	C	T	DNPH1	c.416G>A	NM_006443.3	NP_006434.1:p.(Arg139Gln)	NC_000006.11:g.43193580C>T	(Likely) benign	1 lab	080b9b48d4
1:116206594 VANGL1 C>T	1	116206594	116206594	C	T	VANGL1	c.517C>T	NM_138959.3	NP_620409.1:p.(Arg173Cys)	NC_000001.10:g.116206594C>T	(Likely) benign	1 lab	080ede9353
2:25988170 ASXL2 C>T	2	25988170	25988170	C	T	ASXL2	c.775+2282G>A	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.25988170C>T	(Likely) benign	1 lab	0811b6338b
2:170678478 METTL5 T>A	2	170678478	170678478	T	A	METTL5	c.199A>T	NM_014168.4	NP_054887.2:p.(Ile67Phe)	NC_000002.11:g.170678478T>A	VUS	1 lab	0813b6e584
2:209103923 IDH1 G>GTTATCAAGC	2	209103923	209103925	G	GTTATCAAGC	IDH1	c.1025_1026insGCTTGATAA	NM_005896.4	NP_005887.2:p.(His342delinsGlnLeuAspAsn)	NC_000002.11:g.209103924_209103925insTATCAAGCT	VUS	1 lab	08143cd570
16:72822714 ZFHX3 A>C	16	72822714	72822714	A	C	ZFHX3	c.9461T>G	NM_006885.4	NP_008816.3:p.(Leu3154Arg)	NC_000016.9:g.72822714A>C	VUS	1 lab	081674589c
2:166900478 SCN1A T>C	2	166900478	166900478	T	C	SCN1A	c.1744A>G	NM_001165963.4	NP_001159435.1:p.(Lys582Glu)	NC_000002.11:g.166900478T>C	VUS	1 lab	081682bb88
22:41546158 EP300 C>A	22	41546158	41546158	C	A	EP300	c.2773C>A	NM_001429.4	NP_001420.2:p.(Pro925Thr)	NC_000022.10:g.41546158C>A	(Likely) benign	1 lab	0819bb5de4
12:6058986 VWF T>G	12	6058986	6058986	T	G	VWF	c.8219A>C	NM_000552.5	NP_000543.3:p.(Lys2740Thr)	NC_000012.11:g.6058986T>G	VUS	1 lab	081a258245
5:94901825 ARSK C>T	5	94901825	94901825	C	T	ARSK	c.250C>T	NM_198150.3	NP_937793.1:p.(Arg84Cys)	NC_000005.9:g.94901825C>T	(Likely) pathogenic	1 lab	081b4d5560
3:12458536 PPARG C>T	3	12458536	12458536	C	T	PPARG	c.1063C>T	NM_138711.6	NP_619725.3:p.(Arg355Ter)	NC_000003.11:g.12458536C>T	(Likely) pathogenic	1 lab	081d51ed39
15:65559006 PARP16 A>G	15	65559006	65559006	A	G	PARP16	c.413T>C	NM_001316943.2	NP_001303872.1:p.(Phe138Ser)	NC_000015.9:g.65559006A>G	VUS	1 lab	081e5d0f46
17:5338269 C1QBP T>C	17	5338269	5338269	T	C	C1QBP	c.401A>G	NM_001212.4	NP_001203.1:p.(Asn134Ser)	NC_000017.10:g.5338269T>C	VUS	1 lab	081e761892
3:113890596 DRD3 C>T	3	113890596	113890596	C	T	DRD3	c.244G>A	NM_000796.6	NP_000787.2:p.(Val82Met)	NC_000003.11:g.113890596C>T	VUS	1 lab	08213b812d
19:56369349 NLRP4 C>T	19	56369349	56369349	C	T	NLRP4	c.590C>T	NM_134444.5	NP_604393.2:p.(Pro197Leu)	NC_000019.9:g.56369349C>T	(Likely) benign	1 lab	0821da042b
1:21605710 ECE1 GCCAAGCAGGCCAC>G	1	21605710	21605724	GCCAAGCAGGCCAC	G	ECE1	c.241_253del	NM_001397.3	NP_001388.1:p.(Val81GlnfsTer16)	NC_000001.10:g.21605712_21605724del	VUS	1 lab	0822efc343
2:168107243 XIRP2 T>TA	2	168107243	168107248	T	TA	XIRP2	c.9346dup	NM_152381.6	NP_689594.4:p.(Thr3116AsnfsTer23)	NC_000002.11:g.168107248dup	VUS	1 lab	082332f3d9
19:13616743 CACNA1A T>G	19	13616743	13616743	T	G	CACNA1A	c.293+3A>C	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13616743T>G	(Likely) pathogenic	1 lab	0824fa54e7
19:45857998 ERCC2 CAGG>C	19	45857998	45858004	CAGG	C	ERCC2	c.1652_1654del	NM_000400.4	NP_000391.1:p.(Ser551del)	NC_000019.9:g.45858002_45858004del	VUS	1 lab	082731a414
16:72822033 ZFHX3 C>CGCT	16	72822033	72822049	C	CGCT	ZFHX3	c.10139_10141dup	NM_006885.4	NP_008816.3:p.(Gln3380dup)	NC_000016.9:g.72822047_72822049dup	(Likely) benign	1 lab	0827a2bd63
X:48925533 CCDC120 G>A	X	48925533	48925533	G	A	CCDC120	c.1883G>A	NM_001163321.4	NP_001156793.2:p.(Arg628His)	NC_000023.10:g.48925533G>A	(Likely) benign	1 lab	082811bff2
X:119293046 RHOXF2 G>A	X	119293046	119293046	G	A	RHOXF2	c.205G>A	NM_032498.3	NP_115887.1:p.(Glu69Lys)	NC_000023.10:g.119293046G>A	VUS	1 lab	082811ee3d
15:90320000 MESP2 G>A	15	90320000	90320000	G	A	MESP2	c.412G>A	NM_001039958.2	NP_001035047.1:p.(Val138Met)	NC_000015.9:g.90320000G>A	(Likely) benign	1 lab	08293186cb
9:133578480 EXOSC2 G>A	9	133578480	133578480	G	A	EXOSC2	c.713G>A	NM_014285.7	NP_055100.2:p.(Arg238Gln)	NC_000009.11:g.133578480G>A	(Likely) benign	1 lab	082dcabd8d
1:154932007 PYGO2 G>A	1	154932007	154932007	G	A	PYGO2	c.469C>T	NM_138300.4	NP_612157.1:p.(Pro157Ser)	NC_000001.10:g.154932007G>A	(Likely) benign	1 lab	082dd8ad67
9:135947053 CEL G>GC	9	135947053	135947060	G	GC	CEL	c.2171dup	NM_001807.6	NP_001798.3:p.(Val725CysfsTer6)	NC_000009.11:g.135947060dup	(Likely) benign	1 lab	082de976cd
6:129381009 LAMA2 C>T	6	129381009	129381009	C	T	LAMA2	c.364C>T	NM_000426.4	NP_000417.3:p.(His122Tyr)	NC_000006.11:g.129381009C>T	(Likely) benign	1 lab	0831ce63f8
15:90191766 KIF7 C>T	15	90191766	90191766	C	T	KIF7	c.1163G>A	NM_198525.3	NP_940927.2:p.(Gly388Asp)	NC_000015.9:g.90191766C>T	VUS	1 lab	08336c91f3
16:2168095 PKD1 CAG>C	16	2168095	2168097	CAG	C	PKD1	c.896_897del	NM_001009944.3	NP_001009944.3:p.(Pro299ArgfsTer71)	NC_000016.9:g.2168096_2168097del	VUS	1 lab	0833b7488b
7:6505921 KDELR2 C>G	7	6505921	6505921	C	G	KDELR2	c.385G>C	NM_006854.4	NP_006845.1:p.(Val129Leu)	NC_000007.13:g.6505921C>G	VUS	1 lab	0834135eed
1:11884551 CLCN6 G>A	1	11884551	11884551	G	A	CLCN6	c.589G>A	NM_001286.5	NP_001277.2:p.(Val197Met)	NC_000001.10:g.11884551G>A	(Likely) benign	1 lab	0836e91db0
16:30990555 SETD1A C>T	16	30990555	30990555	C	T	SETD1A	c.3448C>T	NM_014712.3	NP_055527.1:p.(Arg1150Cys)	NC_000016.9:g.30990555C>T	VUS	1 lab	08375fe901
11:17415923 ABCC8 C>T	11	17415923	17415923	C	T	ABCC8	c.4435G>A	NM_000352.6	NP_000343.2:p.(Glu1479Lys)	NC_000011.9:g.17415923C>T	VUS	1 lab	083767704b
1:25891682 LDLRAP1 G>A	1	25891682	25891682	G	A	LDLRAP1	c.766G>A	NM_015627.3	NP_056442.2:p.(Asp256Asn)	NC_000001.10:g.25891682G>A	VUS	1 lab	19ade1b773
2:152404198 NEB C>T	2	152404198	152404198	C	T	NEB	c.20212G>A	NM_001164508.2	NP_001157980.2:p.(Asp6738Asn)	NC_000002.11:g.152404198C>T	VUS	1 lab	083a2d6880
4:1805527 FGFR3 T>C	4	1805527	1805527	T	C	FGFR3	c.1039T>C	NM_000142.5	NP_000133.1:p.(Phe347Leu)	NC_000004.11:g.1805527T>C	(Likely) benign	1 lab	083bc136cf
14:102513978 DYNC1H1 GTA>G	14	102513978	102514001	GTA	G	DYNC1H1	c.13007-154_13007-153del	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102514000_102514001del	(Likely) benign	1 lab	1a157ee9a6
2:211521252 CPS1 A>T	2	211521252	211521252	A	T	CPS1	c.3562A>T	NM_001875.5	NP_001866.2:p.(Ile1188Phe)	NC_000002.11:g.211521252A>T	(Likely) benign	1 lab	083ca7f996
1:26517240 CATSPER4 G>A	1	26517240	26517240	G	A	CATSPER4	c.122G>A	NM_198137.2	NP_937770.1:p.(Arg41His)	NC_000001.10:g.26517240G>A	(Likely) benign	1 lab	083cd8ca65
1:205132103 DSTYK G>A	1	205132103	205132103	G	A	DSTYK	c.1589C>T	NM_015375.3	NP_056190.1:p.(Thr530Met)	NC_000001.10:g.205132103G>A	VUS	1 lab	08403f64c1
14:21896310 CHD8 G>A	14	21896310	21896310	G	A	CHD8	c.1319C>T	NM_001170629.2	NP_001164100.1:p.(Ser440Leu)	NC_000014.8:g.21896310G>A	(Likely) benign	1 lab	084110b05a
1:55457570 TMEM61 G>T	1	55457570	55457570	G	T	TMEM61	c.427G>T	NM_182532.3	NP_872338.1:p.(Gly143Trp)	NC_000001.10:g.55457570G>T	VUS	1 lab	0841b72cf7
6:73332144 KCNQ5 G>T	6	73332144	73332144	G	T	KCNQ5	c.227G>T	NM_019842.4	NP_062816.2:p.(Arg76Met)	NC_000006.11:g.73332144G>T	(Likely) benign	1 lab	0841c269b2
16:17292213 XYLT1 C>T	16	17292213	17292213	C	T	XYLT1	c.1145G>A	NM_022166.4	NP_071449.1:p.(Arg382His)	NC_000016.9:g.17292213C>T	VUS	1 lab	08422903e3
8:42995624 HGSNAT C>CGAGCGGGCGGCGGGCAT	8	42995624	42995648	C	CGAGCGGGCGGCGGGCAT	HGSNAT	c.-8_9dup	NM_152419.3	NP_689632.2:p.(Ala4ArgfsTer4)	NC_000008.10:g.42995632_42995648dup	VUS	1 lab	08441dcf46
10:64974715 JMJD1C T>G	10	64974715	64974715	T	G	JMJD1C	c.1212A>C	NM_032776.3	NP_116165.1:p.(Lys404Asn)	NC_000010.10:g.64974715T>G	(Likely) benign	1 lab	084435e9b0
17:16075242 NCOR1 G>C	17	16075242	16075242	G	C	NCOR1	c.310C>G	NM_006311.4	NP_006302.2:p.(Leu104Val)	NC_000017.10:g.16075242G>C	(Likely) benign	1 lab	0844920639
11:134079334 NCAPD3 A>G	11	134079334	134079334	A	G	NCAPD3	c.605T>C	NM_015261.3	NP_056076.1:p.(Ile202Thr)	NC_000011.9:g.134079334A>G	VUS	1 lab	0846f04e97
11:45925718 MAPK8IP1 G>A	11	45925718	45925718	G	A	MAPK8IP1	c.1666+6G>A	NM_005456.4	NP_005447.1:p.?	NC_000011.9:g.45925718G>A	VUS	1 lab	0846f667ec
5:110820156 CAMK4 G>T	5	110820156	110820156	G	T	CAMK4	c.1414G>T	NM_001744.6	NP_001735.1:p.(Glu472Ter)	NC_000005.9:g.110820156G>T	(Likely) benign	1 lab	084814fd86
2:179434310 TTN T>C	2	179434310	179434310	T	C	TTN	c.76549A>G	NM_001267550.2	NP_001254479.2:p.(Arg25517Gly)	NC_000002.11:g.179434310T>C	VUS	1 lab	0848cfdad6
1:154558755 ADAR G>C	1	154558755	154558755	G	C	ADAR	c.3104C>G	NM_001111.5	NP_001102.3:p.(Ser1035Cys)	NC_000001.10:g.154558755G>C	VUS	1 lab	19ae54cf55
11:5530232 UBQLN3 A>C	11	5530232	5530232	A	C	UBQLN3	c.557T>G	NM_017481.4	NP_059509.1:p.(Leu186Arg)	NC_000011.9:g.5530232A>C	VUS	1 lab	084b9db010
14:21899658 CHD8 T>C	14	21899658	21899658	T	C	CHD8	c.145A>G	NM_001170629.2	NP_001164100.1:p.(Met49Val)	NC_000014.8:g.21899658T>C	(Likely) benign	1 lab	084d00efc9
2:50724783 NRXN1 C>T	2	50724783	50724783	C	T	NRXN1	c.2567G>A	NM_001330078.2	NP_001317007.1:p.(Arg856Gln)	NC_000002.11:g.50724783C>T	VUS	1 lab	084dbe02a4
17:10539134 MYH3 A>G	17	10539134	10539134	A	G	MYH3	c.3893T>C	NM_002470.4	NP_002461.2:p.(Ile1298Thr)	NC_000017.10:g.10539134A>G	(Likely) benign	1 lab	084e976dac
20:43048502 HNF4A T>A	20	43048502	43048502	T	A	HNF4A	c.878T>A	NM_000457.5	NP_000448.3:p.(Ile293Asn)	NC_000020.10:g.43048502T>A	(Likely) pathogenic	1 lab	084f365547
14:92537354 ATXN3 C>CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537379	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	NM_004993.6	NP_004984.2:p.(Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	NC_000014.8:g.92537378_92537379insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	084fccf842
2:74692191 MOGS C>T	2	74692191	74692191	C	T	MOGS	c.184G>A	NM_006302.3	NP_006293.2:p.(Val62Met)	NC_000002.11:g.74692191C>T	(Likely) benign	1 lab	084fe4c0d2
10:64574033 EGR2 T>C	10	64574033	64574033	T	C	EGR2	c.365A>G	NM_000399.5	NP_000390.2:p.(Gln122Arg)	NC_000010.10:g.64574033T>C	(Likely) benign	1 lab	0851c6684f
X:122338247 GRIA3 C>A	X	122338247	122338247	C	A	GRIA3	c.268+18405C>A	NM_007325.5	NP_015564.5:p.?	NC_000023.10:g.122338247C>A	VUS	1 lab	0853063950
X:54824612 ITIH6 C>G	X	54824612	54824612	C	G	ITIH6	c.32G>C	NM_198510.3	NP_940912.1:p.(Ser11Thr)	NC_000023.10:g.54824612C>G	(Likely) benign	1 lab	085328a62d
12:122260846 SETD1B G>A	12	122260846	122260846	G	A	SETD1B	c.4361G>A	NM_001353345.2	NP_001340274.1:p.(Arg1454Gln)	NC_000012.11:g.122260846G>A	VUS	1 lab	0856eacc3d
16:30097759 TBX6 C>T	16	30097759	30097759	C	T	TBX6	c.1098G>A	NM_004608.4	NP_004599.2:p.(Arg366=)	NC_000016.9:g.30097759C>T	VUS	1 lab	085789c946
19:18900937 COMP G>C	19	18900937	18900937	G	C	COMP	c.218-14C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900937G>C	(Likely) benign	1 lab	0859eaf14b
X:48896786 TFE3 TCCTGCG>T	X	48896786	48896796	TCCTGCG	T	TFE3	c.374_379del	NM_006521.6	NP_006512.2:p.(Ala125_Gln126del)	NC_000023.10:g.48896791_48896796del	(Likely) pathogenic	1 lab	085a585113
8:145661805 TONSL T>C	8	145661805	145661805	T	C	TONSL	c.2015-4A>G	NM_013432.5	NP_038460.4:p.?	NC_000008.10:g.145661805T>C	(Likely) benign	1 lab	085ab9b418
2:166897880 SCN1A T>C	2	166897880	166897880	T	C	SCN1A	c.2276A>G	NM_001165963.4	NP_001159435.1:p.(His759Arg)	NC_000002.11:g.166897880T>C	VUS	1 lab	19b0794795
19:17766779 UNC13A G>C	19	17766779	17766779	G	C	UNC13A	c.1196C>G	NM_001080421.3	NP_001073890.2:p.(Ala399Gly)	NC_000019.9:g.17766779G>C	VUS	1 lab	085c4ceefa
7:139529115 TBXAS1 C>T	7	139529115	139529115	C	T	TBXAS1	c.-75C>T	NM_001061.7	NP_001052.3:p.?	NC_000007.13:g.139529115C>T	VUS	1 lab	085c6fbd0c
X:51638449 MAGED1 A>C	X	51638449	51638449	A	C	MAGED1	c.346A>C	NM_006986.4	NP_008917.3:p.(Asn116His)	NC_000023.10:g.51638449A>C	(Likely) benign	1 lab	085e719dc9
14:64641669 SYNE2 A>G	14	64641669	64641669	A	G	SYNE2	c.17243A>G	NM_182914.3	NP_878918.2:p.(Glu5748Gly)	NC_000014.8:g.64641669A>G	VUS	1 lab	0862567653
4:1807487 FGFR3 C>T	4	1807487	1807487	C	T	FGFR3	c.1656C>T	NM_000142.5	NP_000133.1:p.(Tyr552=)	NC_000004.11:g.1807487C>T	(Likely) benign	1 lab	0863966640
10:73485279 CDH23 T>C	10	73485279	73485279	T	C	CDH23	c.3579+2T>C	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73485279T>C	VUS	1 lab	08641234ae
13:21729290 SKA3 C>CAG	13	21729290	21729291	C	CAG	SKA3	c.1239-2_1239-1insCT	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21729290_21729291insAG	(Likely) benign	1 lab	0864ff40a0
14:59003725 KIAA0586 T>A	14	59003725	59003725	T	A	KIAA0586	c.4430-3064T>A	NM_001329943.3	NP_001316872.1:p.?	NC_000014.8:g.59003725T>A	(Likely) benign	1 lab	08654054cd
9:138657094 KCNT1 C>T	9	138657094	138657094	C	T	KCNT1	c.1200+53C>T	NM_020822.2	NP_065873.2:p.?	NC_000009.11:g.138657094C>T	(Likely) benign	1 lab	1a1eaa6d56
18:2747556 SMCHD1 C>G	18	2747556	2747556	C	G	SMCHD1	c.3838C>G	NM_015295.3	NP_056110.2:p.(Pro1280Ala)	NC_000018.9:g.2747556C>G	VUS	1 lab	08660a85ac
11:125889586 CDON T>A	11	125889586	125889586	T	A	CDON	c.424A>T	NM_001378964.1	NP_001365893.1:p.(Arg142Trp)	NC_000011.9:g.125889586T>A	VUS	1 lab	0866d916a9
20:44845516 CDH22 C>T	20	44845516	44845516	C	T	CDH22	c.787G>A	NM_021248.3	NP_067071.1:p.(Val263Ile)	NC_000020.10:g.44845516C>T	VUS	1 lab	086765f50c
2:71753471 DYSF C>CGCAGAGTG	2	71753471	71753479	C	CGCAGAGTG	DYSF	c.1272_1276+3dup	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71753472_71753479dup	(Likely) pathogenic	1 lab	086816a6b7
21:46875509 COL18A1 G>A	21	46875509	46875509	G	A	COL18A1	c.107-12647G>A	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875509G>A	(Likely) benign	1 lab	0869f0669f
X:135767988 ARHGEF6 G>A	X	135767988	135767988	G	A	ARHGEF6	c.1246-6C>T	NM_004840.3	NP_004831.1:p.?	NC_000023.10:g.135767988G>A	(Likely) benign	1 lab	086a79c0d7
17:38249430 NR1D1 C>T	17	38249430	38249430	C	T	NR1D1	c.1751G>A	NM_021724.5	NP_068370.1:p.(Arg584His)	NC_000017.10:g.38249430C>T	(Likely) benign	1 lab	086b2638c6
9:139740512 AJM1 G>C	9	139740512	139740512	G	C	AJM1	c.1646G>C	NM_001080482.5	NP_001073951.2:p.(Arg549Thr)	NC_000009.11:g.139740512G>C	(Likely) benign	1 lab	086bf452ef
13:32931999 BRCA2 C>T	13	32931999	32931999	C	T	BRCA2	c.7738C>T	NM_000059.4	NP_000050.3:p.(Gln2580Ter)	NC_000013.10:g.32931999C>T	(Likely) pathogenic	1 lab	086c6ea444
10:96068391 PLCE1 A>G	10	96068391	96068391	A	G	PLCE1	c.5938A>G	NM_016341.4	NP_057425.3:p.(Ser1980Gly)	NC_000010.10:g.96068391A>G	VUS	1 lab	086ca22a33
16:775136 CCDC78 C>T	16	775136	775136	C	T	CCDC78	c.502G>A	NM_001378030.1	NP_001364959.1:p.(Glu168Lys)	NC_000016.9:g.775136C>T	VUS	1 lab	086cd7a2a3
2:179436982 TTN A>G	2	179436982	179436982	A	G	TTN	c.73877T>C	NM_001267550.2	NP_001254479.2:p.(Met24626Thr)	NC_000002.11:g.179436982A>G	VUS	1 lab	086ce7196c
1:11854116 MTHFR G>A	1	11854116	11854116	G	A	MTHFR	c.1378C>T	NM_005957.5	NP_005948.3:p.(Leu460=)	NC_000001.10:g.11854116G>A	(Likely) benign	1 lab	086e3e3c58
17:31266495 TMEM98 G>A	17	31266495	31266495	G	A	TMEM98	c.414G>A	NM_015544.3	NP_056359.2:p.(Arg138=)	NC_000017.10:g.31266495G>A	VUS	1 lab	0871c59062
1:237780644 RYR2 T>C	1	237780644	237780644	T	C	RYR2	c.5774T>C	NM_001035.3	NP_001026.2:p.(Ile1925Thr)	NC_000001.10:g.237780644T>C	(Likely) benign	1 lab	0874f379ce
17:36091575 HNF1B C>T	17	36091575	36091575	C	T	HNF1B	c.1045+11G>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36091575C>T	(Likely) benign	1 lab	0875ef0ee1
10:72195433 NODAL C>T	10	72195433	72195433	C	T	NODAL	c.500G>A	NM_018055.5	NP_060525.3:p.(Gly167Glu)	NC_000010.10:g.72195433C>T	(Likely) benign	1 lab	0876137a4b
20:61470066 COL9A3 C>G	20	61470066	61470066	C	G	COL9A3	c.1817C>G	NM_001853.4	NP_001844.3:p.(Ala606Gly)	NC_000020.10:g.61470066C>G	(Likely) benign	1 lab	0879e47b85
5:38481761 LIFR G>C	5	38481761	38481761	G	C	LIFR	c.3230C>G	NM_001127671.2	NP_001121143.1:p.(Ser1077Cys)	NC_000005.9:g.38481761G>C	VUS	1 lab	087a0d1eea
17:18044097 MYO15A C>T	17	18044097	18044097	C	T	MYO15A	c.5361-4C>T	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18044097C>T	(Likely) benign	1 lab	087a6aa0c1
1:237947899 RYR2 A>C	1	237947899	237947899	A	C	RYR2	c.12887A>C	NM_001035.3	NP_001026.2:p.(His4296Pro)	NC_000001.10:g.237947899A>C	VUS	1 lab	087a717249
3:41266544 CTNNB1 T>G	3	41266544	41266544	T	G	CTNNB1	c.341T>G	NM_001904.4	NP_001895.1:p.(Phe114Cys)	NC_000003.11:g.41266544T>G	VUS	1 lab	087b1dd966
12:24048752 SOX5 G>A	12	24048752	24048752	G	A	SOX5	c.245C>T	NM_006940.6	NP_008871.3:p.(Thr82Ile)	NC_000012.11:g.24048752G>A	VUS	1 lab	087cd8ff98
1:228559889 OBSCN A>G	1	228559889	228559889	A	G	OBSCN	c.24281A>G	NM_001386125.1	NP_001373054.1:p.(Gln8094Arg)	NC_000001.10:g.228559889A>G	(Likely) benign	1 lab	087ee5d18f
14:92470258 TRIP11 T>G	14	92470258	92470258	T	G	TRIP11	c.4062A>C	NM_004239.4	NP_004230.2:p.(Lys1354Asn)	NC_000014.8:g.92470258T>G	VUS	1 lab	087fb69243
3:47451863 PTPN23 G>C	3	47451863	47451863	G	C	PTPN23	c.2575G>C	NM_015466.4	NP_056281.1:p.(Gly859Arg)	NC_000003.11:g.47451863G>C	VUS	1 lab	19b144e0a8
2:179547472 TTN C>T	2	179547472	179547472	C	T	TTN	c.33046G>A	NM_001267550.2	NP_001254479.2:p.(Glu11016Lys)	NC_000002.11:g.179547472C>T	(Likely) benign	1 lab	08833d0202
20:35882649 GHRH A>C	20	35882649	35882649	A	C	GHRH	c.272T>G	NM_021081.6	NP_066567.1:p.(Leu91Trp)	NC_000020.10:g.35882649A>C	VUS	1 lab	0885e9dbf9
11:94197411 MRE11 A>G	11	94197411	94197411	A	G	MRE11	c.1099-6T>C	NM_005591.4	NP_005582.1:p.?	NC_000011.9:g.94197411A>G	(Likely) benign	1 lab	088617cbe4
9:117838792 TNC A>C	9	117838792	117838792	A	C	TNC	c.2737T>G	NM_002160.4	NP_002151.2:p.(Trp913Gly)	NC_000009.11:g.117838792A>C	VUS	1 lab	08863f6261
21:33043939 SCAF4 C>T	21	33043939	33043939	C	T	SCAF4	c.3217G>A	NM_020706.2	NP_065757.1:p.(Glu1073Lys)	NC_000021.8:g.33043939C>T	(Likely) benign	1 lab	088694438a
X:147003504 FMR1 G>A	X	147003504	147003504	G	A	FMR1	c.104+1G>A	NM_002024.6	NP_002015.1:p.?	NC_000023.10:g.147003504G>A	(Likely) pathogenic	1 lab	0886ad8de5
X:149638886 MAMLD1 C>A	X	149638886	149638886	C	A	MAMLD1	c.1041C>A	NM_005491.5	NP_005482.2:p.(His347Gln)	NC_000023.10:g.149638886C>A	(Likely) benign	1 lab	088a72f797
12:53708163 AAAS G>T	12	53708163	53708163	G	T	AAAS	c.608C>A	NM_015665.6	NP_056480.1:p.(Pro203His)	NC_000012.11:g.53708163G>T	VUS	1 lab	088e4928f9
16:76532537 CNTNAP4 C>T	16	76532537	76532537	C	T	CNTNAP4	c.2311C>T	NM_033401.5	NP_207837.2:p.(Arg771Ter)	NC_000016.9:g.76532537C>T	VUS	1 lab	0892ac120c
4:88537150 DSPP C>CGACAGCTGT	4	88537150	88537153	C	CGACAGCTGT	DSPP	c.3338_3339insCAGCTGTGA	NM_014208.3	NP_055023.2:p.(Ser1114_Ser1115insCysAspSer)	NC_000004.11:g.88537152_88537153insCAGCTGTGA	VUS	1 lab	08930823c5
1:84650778 PRKACB C>T	1	84650778	84650778	C	T	PRKACB	c.478-5C>T	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84650778C>T	(Likely) benign	1 lab	0893d1b9a6
11:62294745 AHNAK T>TAAAAAAAAAA	11	62294745	62294749	T	TAAAAAAAAAA	AHNAK	c.7143_7144insTTTTTTTTTT	NM_001620.3	NP_001611.1:p.(Lys2382PhefsTer4)	NC_000011.9:g.62294748_62294749insAAAAAAAAAA	(Likely) benign	1 lab	08973dafbb
14:23869583 MYH6 T>C	14	23869583	23869583	T	C	MYH6	c.1463A>G	NM_002471.4	NP_002462.2:p.(Gln488Arg)	NC_000014.8:g.23869583T>C	VUS	1 lab	0899329598
5:64081356 CWC27 A>G	5	64081356	64081356	A	G	CWC27	c.445A>G	NM_005869.4	NP_005860.2:p.(Ile149Val)	NC_000005.9:g.64081356A>G	(Likely) benign	1 lab	089cce9637
14:105411319 AHNAK2 C>T	14	105411319	105411319	C	T	AHNAK2	c.10469G>A	NM_138420.4	NP_612429.2:p.(Arg3490Lys)	NC_000014.8:g.105411319C>T	(Likely) benign	1 lab	089f82541e
3:19947124 EFHB T>C	3	19947124	19947124	T	C	EFHB	c.1406A>G	NM_144715.4	NP_653316.3:p.(His469Arg)	NC_000003.11:g.19947124T>C	(Likely) benign	1 lab	089f84ca71
8:144898992 PUF60 G>A	8	144898992	144898992	G	A	PUF60	c.1381-3C>T	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144898992G>A	(Likely) benign	1 lab	089fede4a7
11:4929447 OR51A7 C>T	11	4929447	4929447	C	T	OR51A7	c.848C>T	NM_001004749.2	NP_001004749.1:p.(Pro283Leu)	NC_000011.9:g.4929447C>T	(Likely) benign	1 lab	08a15b5852
19:9000437 MUC16 C>T	19	9000437	9000437	C	T	MUC16	c.43068+5G>A	NM_001401501.2	NP_001388430.1:p.?	NC_000019.9:g.9000437C>T	(Likely) benign	1 lab	08a30ee202
X:153759858 G6PD T>C	X	153759858	153759858	T	C	G6PD	c.*357=	NM_001042351.2	NP_001035810.1:p.?	NC_000023.10:g.153759858T>C	(Likely) benign	1 lab	1a24c6e9f0
16:23637632 PALB2 G>C	16	23637632	23637632	G	C	PALB2	c.2673C>G	NM_024675.4	NP_078951.2:p.(Cys891Trp)	NC_000016.9:g.23637632G>C	(Likely) benign	1 lab	08a7bed5fc
7:31011603 GHRHR G>A	7	31011603	31011603	G	A	GHRHR	c.490G>A	NM_000823.4	NP_000814.2:p.(Val164Ile)	NC_000007.13:g.31011603G>A	(Likely) benign	1 lab	08a84f3738
6:75858106 COL12A1 A>T	6	75858106	75858106	A	T	COL12A1	c.4255T>A	NM_004370.6	NP_004361.3:p.(Tyr1419Asn)	NC_000006.11:g.75858106A>T	VUS	1 lab	08a8511cd5
17:36891486 CISD3 G>C	17	36891486	36891486	G	C	CISD3	c.*1778G>C	NM_001136498.2	NP_001129970.1:p.?	NC_000017.10:g.36891486G>C	(Likely) benign	1 lab	08a869ac19
16:2813210 SRRM2 C>T	16	2813210	2813210	C	T	SRRM2	c.2681C>T	NM_016333.4	NP_057417.3:p.(Ser894Phe)	NC_000016.9:g.2813210C>T	(Likely) benign	1 lab	08a984e000
21:38320591 HLCS GAA>G	21	38320591	38320609	GAA	G	HLCS	c.331-9299_331-9298del	NM_001352514.2	NP_001339443.1:p.?	NC_000021.8:g.38320608_38320609del	(Likely) benign	1 lab	08aaf75b72
13:27690726 USP12 T>C	13	27690726	27690726	T	C	USP12	c.56A>G	NM_182488.4	NP_872294.2:p.(Asn19Ser)	NC_000013.10:g.27690726T>C	(Likely) benign	1 lab	08ac45ecbe
13:31036851 HMGB1 T>TA	13	31036851	31036861	T	TA	HMGB1	c.297-3dup	NM_002128.7	NP_002119.1:p.?	NC_000013.10:g.31036861dup	(Likely) benign	1 lab	08adec3c91
15:90208991 PLIN1 C>A	15	90208991	90208991	C	A	PLIN1	c.1392G>T	NM_002666.5	NP_002657.3:p.(Ala464=)	NC_000015.9:g.90208991C>A	(Likely) benign	1 lab	08adfa55b4
14:70442537 SMOC1 G>A	14	70442537	70442537	G	A	SMOC1	c.478+6G>A	NM_001034852.3	NP_001030024.1:p.?	NC_000014.8:g.70442537G>A	(Likely) benign	1 lab	08ae4671bc
6:116441754 COL10A1 G>A	6	116441754	116441754	G	A	COL10A1	c.1525C>T	NM_000493.4	NP_000484.2:p.(Pro509Ser)	NC_000006.11:g.116441754G>A	VUS	1 lab	08ae8fb369
17:44627117 LRRC37A2 A>G	17	44627117	44627117	A	G	LRRC37A2	c.4612A>G	NM_001006607.3	NP_001006608.2:p.(Lys1538Glu)	NC_000017.10:g.44627117A>G	(Likely) benign	1 lab	08aea540c8
17:44304167 KANSL1 A>C	17	44304167	44304167	A	C	KANSL1				NC_000017.10:g.44304167A>C	VUS	1 lab	08b015fc42
17:79225412 SLC38A10 C>T	17	79225412	79225412	C	T	SLC38A10	c.1946G>A	NM_001037984.3	NP_001033073.1:p.(Gly649Asp)	NC_000017.10:g.79225412C>T	(Likely) benign	1 lab	08b0a2070f
18:14803764 ANKRD30B T>G	18	14803764	14803764	T	G	ANKRD30B	c.2225T>G	NM_001367607.2	NP_001354536.1:p.(Val742Gly)	NC_000018.9:g.14803764T>G	(Likely) benign	1 lab	08b39e457a
19:45916979 ERCC1 A>G	19	45916979	45916979	A	G	ERCC1	c.799T>C	NM_001983.4	NP_001974.1:p.(Ser267Pro)	NC_000019.9:g.45916979A>G	VUS	1 lab	08b446a985
X:122747550 THOC2 T>C	X	122747550	122747550	T	C	THOC2	c.4459A>G	NM_001081550.2	NP_001075019.1:p.(Asn1487Asp)	NC_000023.10:g.122747550T>C	VUS	1 lab	08b522189b
19:46281129 DMPK C>CA	19	46281129	46281130	C	CA	DMPK	c.677dup	NM_004409.5	NP_004400.4:p.(Arg227AlafsTer34)	NC_000019.9:g.46281130dup	VUS	1 lab	08b8509bc5
6:117241483 RFX6 C>G	6	117241483	117241483	C	G	RFX6	c.1193C>G	NM_173560.4	NP_775831.2:p.(Pro398Arg)	NC_000006.11:g.117241483C>G	VUS	1 lab	08b874adbb
2:48010522 MSH6 G>C	2	48010522	48010522	G	C	MSH6	c.150G>C	NM_000179.3	NP_000170.1:p.(Trp50Cys)	NC_000002.11:g.48010522G>C	VUS	1 lab	08ba5b4774
2:215617292 BARD1 G>C	2	215617292	215617292	G	C	BARD1	c.1569-13C>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215617292G>C	VUS	1 lab	08bcee0274
10:15655770 ITGA8 C>G	10	15655770	15655770	C	G	ITGA8	c.1446-4G>C	NM_003638.3	NP_003629.2:p.?	NC_000010.10:g.15655770C>G	(Likely) benign	1 lab	08bd7609c0
16:58577662 CNOT1 A>G	16	58577662	58577662	A	G	CNOT1	c.4283T>C	NM_016284.5	NP_057368.3:p.(Phe1428Ser)	NC_000016.9:g.58577662A>G	VUS	1 lab	08bdd7952b
12:133313573 ANKLE2 G>A	12	133313573	133313573	G	A	ANKLE2	c.1499C>T	NM_015114.3	NP_055929.1:p.(Thr500Met)	NC_000012.11:g.133313573G>A	VUS	1 lab	08bdfeb7fd
2:166020945 SCN3A G>A	2	166020945	166020945	G	A	SCN3A	c.559C>T	NM_006922.4	NP_008853.3:p.(Arg187Cys)	NC_000002.11:g.166020945G>A	VUS	1 lab	08bed1594e
6:43014020 CUL7 C>T	6	43014020	43014020	C	T	CUL7	c.2614G>A	NM_014780.5	NP_055595.2:p.(Gly872Ser)	NC_000006.11:g.43014020C>T	(Likely) benign	1 lab	08bf4ee545
2:236761434 AGAP1 G>C	2	236761434	236761434	G	C	AGAP1	c.1051-30555G>C	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236761434G>C	VUS	1 lab	08c0f72599
11:58477379 GLYAT C>A	11	58477379	58477379	C	A	GLYAT	c.751G>T	NM_201648.3	NP_964011.2:p.(Ala251Ser)	NC_000011.9:g.58477379C>A	(Likely) benign	1 lab	08c1007f5e
X:70329089 IL2RG TTG>T	X	70329089	70329091	TTG	T	IL2RG	c.744_745del	NM_000206.3	NP_000197.1:p.(Ser248ArgfsTer54)	NC_000023.10:g.70329090_70329091del	(Likely) pathogenic	1 lab	08c1bba3ea
7:31009572 GHRHR C>T	7	31009572	31009572	C	T	GHRHR	c.359C>T	NM_000823.4	NP_000814.2:p.(Ala120Val)	NC_000007.13:g.31009572C>T	(Likely) benign	1 lab	08c2270e2c
17:78178015 CARD14 C>T	17	78178015	78178015	C	T	CARD14	c.2284-11C>T	NM_024110.4	NP_077015.2:p.?	NC_000017.10:g.78178015C>T	(Likely) benign	1 lab	1a256b0987
2:238287470 COL6A3 G>A	2	238287470	238287470	G	A	COL6A3	c.2306C>T	NM_004369.4	NP_004360.2:p.(Ala769Val)	NC_000002.11:g.238287470G>A	VUS	1 lab	08c5f3aaa0
7:44228544 GCK G>A	7	44228544	44228544	G	A	GCK	c.9C>T	NM_000162.5	NP_000153.1:p.(Asp3=)	NC_000007.13:g.44228544G>A	(Likely) benign	1 lab	08c7bad089
15:90167006 TICRR G>T	15	90167006	90167006	G	T	TICRR	c.3465G>T	NM_152259.4	NP_689472.3:p.(Glu1155Asp)	NC_000015.9:g.90167006G>T	(Likely) benign	1 lab	08c7e9339b
19:20229706 ZNF90 G>C	19	20229706	20229706	G	C	ZNF90	c.1343G>C	NM_007138.2	NP_009069.1:p.(Ser448Thr)	NC_000019.9:g.20229706G>C	(Likely) benign	1 lab	08c7fdc9d7
10:104176357 PSD G>T	10	104176357	104176357	G	T	PSD	c.439C>A	NM_002779.5	NP_002770.3:p.(Arg147=)	NC_000010.10:g.104176357G>T	(Likely) benign	1 lab	08c806ff22
19:56515426 NLRP5 G>A	19	56515426	56515426	G	A	NLRP5	c.407G>A	NM_153447.4	NP_703148.4:p.(Arg136Gln)	NC_000019.9:g.56515426G>A	(Likely) benign	1 lab	08c96095ae
X:67433722 OPHN1 C>T	X	67433722	67433722	C	T	OPHN1	c.579G>A	NM_002547.3	NP_002538.1:p.(Lys193=)	NC_000023.10:g.67433722C>T	(Likely) benign	1 lab	19b49f0bb9
22:45312263 PHF21B G>A	22	45312263	45312263	G	A	PHF21B	c.461C>T	NM_138415.5	NP_612424.1:p.(Ser154Phe)	NC_000022.10:g.45312263G>A	VUS	1 lab	08cae054b5
8:41558037 ANK1 A>G	8	41558037	41558037	A	G	ANK1	c.2462-971T>C	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41558037A>G	(Likely) benign	1 lab	1a2616c6cd
5:6607303 NSUN2 C>T	5	6607303	6607303	C	T	NSUN2	c.1508+10G>A	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6607303C>T	(Likely) benign	1 lab	092f1a6812
8:144891893 SCRIB G>A	8	144891893	144891893	G	A	SCRIB	c.1531-5C>T	NM_182706.5	NP_874365.3:p.?	NC_000008.10:g.144891893G>A	(Likely) benign	1 lab	08d002a7a4
4:1803274 FGFR3 C>T	4	1803274	1803274	C	T	FGFR3	c.615+11C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803274C>T	(Likely) benign	1 lab	08d014689e
18:29648307 RNF125 G>A	18	29648307	29648307	G	A	RNF125	c.659G>A	NM_017831.4	NP_060301.2:p.(Arg220Gln)	NC_000018.9:g.29648307G>A	(Likely) benign	1 lab	08d11a38a0
4:81967240 BMP3 C>T	4	81967240	81967240	C	T	BMP3	c.665C>T	NM_001201.5	NP_001192.4:p.(Thr222Met)	NC_000004.11:g.81967240C>T	(Likely) benign	1 lab	08d1308d5f
M:14279 MISSING G>A	M	14279		G	A	MISSING				NC_012920.1:m.14279G>A	VUS	1 lab	08d1f1d693
2:166868784 SCN1A T>G	2	166868784	166868784	T	G	SCN1A	c.3714A>C	NM_001165963.4	NP_001159435.1:p.(Glu1238Asp)	NC_000002.11:g.166868784T>G	(Likely) benign	1 lab	08d2313afb
15:33835901 RYR3 A>G	15	33835901	33835901	A	G	RYR3	c.725A>G	NM_001036.6	NP_001027.3:p.(Asn242Ser)	NC_000015.9:g.33835901A>G	(Likely) benign	1 lab	08d2d8dba3
X:107814447 COL4A5 G>T	X	107814447	107814447	G	T	COL4A5	c.385-196G>T	NM_033380.3	NP_203699.1:p.?	NC_000023.10:g.107814447G>T	(Likely) benign	1 lab	1a280b41a7
7:92122269 PEX1 G>A	7	92122269	92122269	G	A	PEX1	c.3205C>T	NM_000466.3	NP_000457.1:p.(Gln1069Ter)	NC_000007.13:g.92122269G>A	(Likely) pathogenic	1 lab	08d74035b7
11:67353927 GSTP1 TG>T	11	67353927	67353929	TG	T	GSTP1	c.514del	NM_000852.4	NP_000843.1:p.(Asp172MetfsTer29)	NC_000011.9:g.67353929del	VUS	1 lab	08d8870d79
13:103519019 ERCC5 C>G	13	103519019	103519019	C	G	ERCC5	c.2357C>G	NM_000123.4	NP_000114.3:p.(Ala786Gly)	NC_000013.10:g.103519019C>G	VUS	1 lab	08db4f170f
16:2817956 SRRM2 C>T	16	2817956	2817956	C	T	SRRM2	c.7427C>T	NM_016333.4	NP_057417.3:p.(Ser2476Phe)	NC_000016.9:g.2817956C>T	VUS	1 lab	08db50d7a6
X:133906246 PABIR2 C>T	X	133906246	133906246	C	T	PABIR2	c.727G>A	NM_001387468.1	NP_001374397.1:p.(Ala243Thr)	NC_000023.10:g.133906246C>T	VUS	1 lab	08db57a042
2:220080728 ABCB6 C>T	2	220080728	220080728	C	T	ABCB6	c.1145G>A	NM_005689.4	NP_005680.1:p.(Gly382Glu)	NC_000002.11:g.220080728C>T	(Likely) benign	1 lab	08dc706509
2:240061403 HDAC4 C>T	2	240061403	240061403	C	T	HDAC4	c.955G>A	NM_001378414.1	NP_001365343.1:p.(Ala319Thr)	NC_000002.11:g.240061403C>T	(Likely) benign	1 lab	08dc7bbba8
12:43822596 ADAMTS20 C>T	12	43822596	43822596	C	T	ADAMTS20	c.3496G>A	NM_025003.5	NP_079279.3:p.(Val1166Ile)	NC_000012.11:g.43822596C>T	(Likely) benign	1 lab	08dccc68f6
2:130930006 SMPD4 A>G	2	130930006	130930006	A	G	SMPD4	c.575T>C	NM_017951.5	NP_060421.3:p.(Leu192Pro)	NC_000002.11:g.130930006A>G	VUS	1 lab	08de4d3c51
22:29091777 CHEK2 C>T	22	29091777	29091777	C	T	CHEK2	c.1180G>A	NM_007194.4	NP_009125.1:p.(Glu394Lys)	NC_000022.10:g.29091777C>T	VUS	1 lab	08e0657cfb
12:56565075 SMARCC2 G>A	12	56565075	56565075	G	A	SMARCC2	c.2327C>T	NM_001330288.2	NP_001317217.1:p.(Ser776Phe)	NC_000012.11:g.56565075G>A	VUS	1 lab	08e075e0ff
16:90102855 DRC4 C>T	16	90102855	90102855	C	T	DRC4	c.617C>T	NM_001481.3	NP_001472.1:p.(Thr206Ile)	NC_000016.9:g.90102855C>T	VUS	1 lab	08e25b68fb
X:54497198 FGD1 A>C	X	54497198	54497198	A	C	FGD1	c.482-5T>G	NM_004463.3	NP_004454.2:p.?	NC_000023.10:g.54497198A>C	(Likely) benign	1 lab	08e278c69a
16:30666820 PRR14 C>T	16	30666820	30666820	C	T	PRR14	c.1315-3C>T	NM_024031.5	NP_076936.1:p.?	NC_000016.9:g.30666820C>T	(Likely) benign	1 lab	08e4bffa8a
3:139063049 MRPS22 C>T	3	139063049	139063049	C	T	MRPS22	c.172+9C>T	NM_020191.4	NP_064576.1:p.?	NC_000003.11:g.139063049C>T	(Likely) benign	1 lab	08e7330179
3:49836335 CDHR4 T>G	3	49836335	49836335	T	G	CDHR4	c.419A>C	NM_001007540.4	NP_001007541.2:p.(Gln140Pro)	NC_000003.11:g.49836335T>G	(Likely) benign	1 lab	08e79ea79e
1:241671939 FH A>C	1	241671939	241671939	A	C	FH	c.702T>G	NM_000143.4	NP_000134.2:p.(Thr234=)	NC_000001.10:g.241671939A>C	(Likely) benign	1 lab	08e827259d
4:77676074 SHROOM3 A>G	4	77676074	77676074	A	G	SHROOM3	c.4438A>G	NM_020859.4	NP_065910.3:p.(Ser1480Gly)	NC_000004.11:g.77676074A>G	(Likely) benign	1 lab	08e8d20152
11:64031592 PLCB3 G>A	11	64031592	64031592	G	A	PLCB3	c.2652+8G>A	NM_000932.5	NP_000923.1:p.?	NC_000011.9:g.64031592G>A	(Likely) benign	1 lab	08e917cf14
15:89392729 ACAN G>T	15	89392729	89392729	G	T	ACAN	c.1793G>T	NM_001369268.1	NP_001356197.1:p.(Cys598Phe)	NC_000015.9:g.89392729G>T	VUS	1 lab	08e9ad64b3
8:120575111 ENPP2 C>T	8	120575111	120575111	C	T	ENPP2	c.2407G>A	NM_001040092.3	NP_001035181.1:p.(Glu803Lys)	NC_000008.10:g.120575111C>T	(Likely) benign	1 lab	08eaadae24
16:70954595 HYDIN TCTC>T	16	70954595	70954600	TCTC	T	HYDIN	c.7681_7683del	NM_001270974.2	NP_001257903.1:p.(Glu2561del)	NC_000016.9:g.70954598_70954600del	(Likely) benign	1 lab	08ee830e3b
19:53058486 ZNF808 C>T	19	53058486	53058486	C	T	ZNF808	c.2317C>T	NM_001039886.4	NP_001034975.2:p.(Arg773Cys)	NC_000019.9:g.53058486C>T	VUS	1 lab	08eefbc182
7:151877903 KMT2C G>A	7	151877903	151877903	G	A	KMT2C	c.7042C>T	NM_170606.3	NP_733751.2:p.(Gln2348Ter)	NC_000007.13:g.151877903G>A	VUS	1 lab	08f3050cb7
19:38993358 RYR1 C>G	19	38993358	38993358	C	G	RYR1	c.7826C>G	NM_000540.3	NP_000531.2:p.(Ser2609Trp)	NC_000019.9:g.38993358C>G	VUS	1 lab	08f39b8e14
X:49088142 CACNA1F C>G	X	49088142	49088142	C	G	CACNA1F	c.273G>C	NM_001256789.3	NP_001243718.1:p.(Trp91Cys)	NC_000023.10:g.49088142C>G	VUS	1 lab	08f50be5cc
11:108143258 ATM G>A	11	108143258	108143258	G	A	ATM	c.3078-1G>A	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108143258G>A	(Likely) pathogenic	1 lab	1a281e9ae5
10:28824552 WAC G>A	10	28824552	28824552	G	A	WAC	c.140G>A	NM_016628.5	NP_057712.2:p.(Arg47Gln)	NC_000010.10:g.28824552G>A	(Likely) benign	1 lab	08f74f272f
7:73480044 ELN G>A	7	73480044	73480044	G	A	ELN	c.2014G>A	NM_000501.4	NP_000492.2:p.(Ala672Thr)	NC_000007.13:g.73480044G>A	VUS	1 lab	08f7fe82fa
17:42991433 GFAP C>T	17	42991433	42991433	C	T	GFAP	c.485G>A	NM_002055.5	NP_002046.1:p.(Arg162Lys)	NC_000017.10:g.42991433C>T	VUS	1 lab	08f820f11e
2:10584318 ODC1 A>C	2	10584318	10584318	A	C	ODC1	c.352T>G	NM_002539.3	NP_002530.1:p.(Ser118Ala)	NC_000002.11:g.10584318A>C	(Likely) benign	1 lab	08f83ae3b8
19:55628733 PPP1R12C G>A	19	55628733	55628733	G	A	PPP1R12C	c.179C>T	NM_017607.4	NP_060077.1:p.(Ala60Val)	NC_000019.9:g.55628733G>A	(Likely) benign	1 lab	08f9d01053
19:11358803 DOCK6 G>A	19	11358803	11358803	G	A	DOCK6	c.745C>T	NM_020812.4	NP_065863.2:p.(Arg249Cys)	NC_000019.9:g.11358803G>A	VUS	1 lab	08fb52098d
3:180369321 CCDC39 C>T	3	180369321	180369321	C	T	CCDC39	c.1035G>A	NM_181426.2	NP_852091.1:p.(Arg345=)	NC_000003.11:g.180369321C>T	(Likely) benign	1 lab	08fc78411c
15:89402095 ACAN A>G	15	89402095	89402095	A	G	ACAN	c.6279A>G	NM_001369268.1	NP_001356197.1:p.(Val2093=)	NC_000015.9:g.89402095A>G	(Likely) benign	1 lab	08fd553357
4:6302843 WFS1 G>A	4	6302843	6302843	G	A	WFS1	c.1321G>A	NM_006005.3	NP_005996.2:p.(Val441Met)	NC_000004.11:g.6302843G>A	(Likely) benign	1 lab	08fdf7bd5e
17:16120779 PIGL G>A	17	16120779	16120779	G	A	PIGL	c.235+4G>A	NM_004278.4	NP_004269.1:p.?	NC_000017.10:g.16120779G>A	VUS	1 lab	08feb02fce
11:44193221 EXT2 C>G	11	44193221	44193221	C	G	EXT2	c.1234C>G	NM_207122.2	NP_997005.1:p.(Gln412Glu)	NC_000011.9:g.44193221C>G	(Likely) benign	1 lab	08fec8bfa8
5:194849 LRRC14B T>A	5	194849	194849	T	A	LRRC14B	c.926T>A	NM_001080478.3	NP_001073947.1:p.(Leu309Gln)	NC_000005.9:g.194849T>A	VUS	1 lab	08ff0e3a4e
1:9324300 H6PD G>A	1	9324300	9324300	G	A	H6PD	c.1748G>A	NM_004285.4	NP_004276.2:p.(Gly583Asp)	NC_000001.10:g.9324300G>A	VUS	1 lab	19baa3b581
6:53784275 LRRC1 T>TAAA	6	53784275	53784292	T	TAAA	LRRC1	c.1107-6_1107-4dup	NM_018214.5	NP_060684.4:p.?	NC_000006.11:g.53784290_53784292dup	(Likely) benign	1 lab	09077b2335
17:10533717 MYH3 C>T	17	10533717	10533717	C	T	MYH3	c.5345G>A	NM_002470.4	NP_002461.2:p.(Arg1782Gln)	NC_000017.10:g.10533717C>T	VUS	1 lab	0907e10cc8
13:28494534 PDX1 C>G	13	28494534	28494534	C	G	PDX1	c.259C>G	NM_000209.4	NP_000200.1:p.(Pro87Ala)	NC_000013.10:g.28494534C>G	(Likely) benign	1 lab	09082f7387
15:89403655 ACAN G>A	15	89403655	89403655	G	A	ACAN	c.6931G>A	NM_001369268.1	NP_001356197.1:p.(Glu2311Lys)	NC_000015.9:g.89403655G>A	(Likely) benign	1 lab	09090eeae6
11:65998133 PACS1 A>C	11	65998133	65998133	A	C	PACS1	c.1489A>C	NM_018026.4	NP_060496.2:p.(Ser497Arg)	NC_000011.9:g.65998133A>C	VUS	1 lab	090b6d73df
20:23966615 GGTLC1 C>T	20	23966615	23966615	C	T	GGTLC1	c.305-4G>A	NM_178311.3	NP_842563.1:p.?	NC_000020.10:g.23966615C>T	(Likely) benign	1 lab	090e09feec
18:12353141 AFG3L2 G>T	18	12353141	12353141	G	T	AFG3L2	c.1181C>A	NM_006796.3	NP_006787.2:p.(Ala394Asp)	NC_000018.9:g.12353141G>T	VUS	1 lab	090f3754d0
7:127251732 PAX4 T>TA	7	127251732	127251743	T	TA	PAX4	c.772-3dup	NM_001366110.1	NP_001353039.1:p.?	NC_000007.13:g.127251743dup	(Likely) benign	1 lab	090f492b26
4:47695075 CORIN A>T	4	47695075	47695075	A	T	CORIN	c.825T>A	NM_006587.4	NP_006578.2:p.(Phe275Leu)	NC_000004.11:g.47695075A>T	VUS	1 lab	091050fca6
9:135946953 CEL C>CGCCCCCCCCGTGCCGCCCACGGGTGACGCCGG	9	135946953	135946981	C	CGCCCCCCCCGTGCCGCCCACGGGTGACGCCGG	CEL	c.2091_2092insGCCGGGCCCCCCCCGTGCCGCCCACGGGTGAC	NM_001807.6	NP_001798.3:p.(Ser698AlafsTer17)	NC_000009.11:g.135946980_135946981insGCCGGGCCCCCCCCGTGCCGCCCACGGGTGAC	VUS	1 lab	091129492c
19:42752730 ERF T>C	19	42752730	42752730	T	C	ERF	c.1534A>G	NM_006494.4	NP_006485.2:p.(Lys512Glu)	NC_000019.9:g.42752730T>C	VUS	1 lab	09112d479c
1:67512974 SLC35D1 A>G	1	67512974	67512974	A	G	SLC35D1	c.610T>C	NM_015139.3	NP_055954.1:p.(Tyr204His)	NC_000001.10:g.67512974A>G	VUS	1 lab	0911b67d0e
X:47774868 ZNF81 A>T	X	47774868	47774868	A	T	ZNF81	c.823A>T	NM_007137.5	NP_009068.2:p.(Thr275Ser)	NC_000023.10:g.47774868A>T	VUS	1 lab	091427ad7b
17:10210385 MYH13 CAAG>C	17	10210385	10210393	CAAG	C	MYH13	c.5170-7_5170-5del	NM_003802.3	NP_003793.2:p.?	NC_000017.10:g.10210391_10210393del	(Likely) benign	1 lab	0914c08eb0
14:91739024 CCDC88C G>C	14	91739024	91739024	G	C	CCDC88C	c.6032C>G	NM_001080414.4	NP_001073883.2:p.(Ser2011Cys)	NC_000014.8:g.91739024G>C	VUS	1 lab	0915eb2ea3
8:67705993 SGK3 G>A	8	67705993	67705993	G	A	SGK3	c.22G>A	NM_001033578.3	NP_001028750.1:p.(Asp8Asn)	NC_000008.10:g.67705993G>A	(Likely) benign	1 lab	0915f4610c
12:49446169 KMT2D G>A	12	49446169	49446169	G	A	KMT2D	c.1297C>T	NM_003482.4	NP_003473.3:p.(Pro433Ser)	NC_000012.11:g.49446169G>A	VUS	1 lab	09172a170f
12:4654939 RAD51AP1 T>C	12	4654939	4654939	T	C	RAD51AP1	c.210-536T>C	NM_006479.5	NP_006470.1:p.?	NC_000012.11:g.4654939T>C	(Likely) benign	1 lab	0917ad84fd
11:3125532 OSBPL5 G>A	11	3125532	3125532	G	A	OSBPL5	c.1135C>T	NM_020896.4	NP_065947.1:p.(Arg379Trp)	NC_000011.9:g.3125532G>A	VUS	1 lab	091a587f4b
5:86669978 RASA1 A>T	5	86669978	86669978	A	T	RASA1	c.1777-2A>T	NM_002890.3	NP_002881.1:p.?	NC_000005.9:g.86669978A>T	(Likely) benign	1 lab	091b5c7460
22:51160528 SHANK3 G>T	22	51160528	51160528	G	T	SHANK3	c.4492G>T	NM_001372044.2	NP_001358973.1:p.(Gly1498Trp)	NC_000022.10:g.51160528G>T	(Likely) benign	1 lab	091df3c500
17:10356159 MYH4 C>T	17	10356159	10356159	C	T	MYH4	c.3202G>A	NM_017533.2	NP_060003.2:p.(Glu1068Lys)	NC_000017.10:g.10356159C>T	VUS	1 lab	091f27b6b5
10:73103999 SLC29A3 A>G	10	73103999	73103999	A	G	SLC29A3	c.334A>G	NM_018344.6	NP_060814.4:p.(Thr112Ala)	NC_000010.10:g.73103999A>G	(Likely) benign	1 lab	091f4cf285
10:100189289 HPS1 C>A	10	100189289	100189289	C	A	HPS1	c.937+41G>T	NM_000195.5	NP_000186.2:p.?	NC_000010.10:g.100189289C>A	(Likely) benign	1 lab	092036098c
2:165952098 SCN3A T>C	2	165952098	165952098	T	C	SCN3A	c.4354A>G	NM_006922.4	NP_008853.3:p.(Ile1452Val)	NC_000002.11:g.165952098T>C	(Likely) benign	1 lab	092242690a
15:49031225 CEP152 G>A	15	49031225	49031225	G	A	CEP152	c.4354C>T	NM_001194998.2	NP_001181927.1:p.(His1452Tyr)	NC_000015.9:g.49031225G>A	VUS	1 lab	0923b90ab1
4:1795748 FGFR3 G>C	4	1795748	1795748	G	C	FGFR3	c.87G>C	NM_000142.5	NP_000133.1:p.(Gln29His)	NC_000004.11:g.1795748G>C	VUS	1 lab	0924e16b4c
7:16255794 CRPPA G>C	7	16255794	16255794	G	C	CRPPA	c.1148C>G	NM_001101426.4	NP_001094896.1:p.(Pro383Arg)	NC_000007.13:g.16255794G>C	VUS	1 lab	0925474cf1
7:94040225 COL1A2 C>T	7	94040225	94040225	C	T	COL1A2	c.1222C>T	NM_000089.4	NP_000080.2:p.(Pro408Ser)	NC_000007.13:g.94040225C>T	VUS	1 lab	0926982f7b
10:75575006 CAMK2G C>G	10	75575006	75575006	C	G	CAMK2G	c.1535-1G>C	NM_001367534.1	NP_001354463.1:p.?	NC_000010.10:g.75575006C>G	VUS	1 lab	09275d1d3a
19:39057577 RYR1 G>A	19	39057577	39057577	G	A	RYR1	c.13464G>A	NM_000540.3	NP_000531.2:p.(Pro4488=)	NC_000019.9:g.39057577G>A	(Likely) benign	1 lab	09298a878c
1:38269983 YRDC C>T	1	38269983	38269983	C	T	YRDC	c.758G>A	NM_024640.4	NP_078916.3:p.(Arg253His)	NC_000001.10:g.38269983C>T	VUS	1 lab	0929e79acf
3:53774321 CACNA1D T>G	3	53774321	53774321	T	G	CACNA1D	c.2766T>G	NM_001128840.3	NP_001122312.1:p.(Phe922Leu)	NC_000003.11:g.53774321T>G	(Likely) benign	1 lab	092a8223e3
16:727043 RHBDL1 A>C	16	727043	727043	A	C	RHBDL1	c.499A>C	NM_001278720.2	NP_001265649.1:p.(Lys167Gln)	NC_000016.9:g.727043A>C	VUS	1 lab	092c0f278c
16:88804030 PIEZO1 T>C	16	88804030	88804030	T	C	PIEZO1	c.1132A>G	NM_001142864.4	NP_001136336.2:p.(Thr378Ala)	NC_000016.9:g.88804030T>C	(Likely) benign	1 lab	092c441426
17:21319816 KCNJ12 G>A	17	21319816	21319816	G	A	KCNJ12	c.1162G>A	NM_021012.5	NP_066292.2:p.(Glu388Lys)	NC_000017.10:g.21319816G>A	(Likely) benign	1 lab	092cc897b6
21:45711096 AIRE G>T	21	45711096	45711096	G	T	AIRE	c.995+3G>T	NM_000383.4	NP_000374.1:p.?	NC_000021.8:g.45711096G>T	VUS	1 lab	0932a12d0c
9:133327633 ASS1 C>T	9	133327633	133327633	C	T	ASS1	c.18C>T	NM_054012.4	NP_446464.1:p.(Ser6=)	NC_000009.11:g.133327633C>T	VUS	1 lab	09333ce1e4
6:42897357 CNPY3 T>TTGC	6	42897357	42897384	T	TTGC	CNPY3	c.74_76dup	NM_006586.5	NP_006577.2:p.(Leu25dup)	NC_000006.11:g.42897382_42897384dup	VUS	1 lab	0936856372
3:81698161 GBE1 T>C	3	81698161	81698161	T	C	GBE1	c.556-19A>G	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81698161T>C	(Likely) benign	1 lab	0936c76f90
1:200818496 CAMSAP2 C>T	1	200818496	200818496	C	T	CAMSAP2	c.2599C>T	NM_203459.4	NP_982284.1:p.(Pro867Ser)	NC_000001.10:g.200818496C>T	(Likely) benign	1 lab	093819fd32
3:3196516 CRBN CTTGT>C	3	3196516	3196522	CTTGT	C	CRBN	c.751-5_751-2del	NM_016302.4	NP_057386.2:p.?	NC_000003.11:g.3196519_3196522del	(Likely) benign	1 lab	0938384daa
1:983219 AGRN G>A	1	983219	983219	G	A	AGRN	c.3695G>A	NM_198576.4	NP_940978.2:p.(Arg1232His)	NC_000001.10:g.983219G>A	(Likely) benign	1 lab	09393cadcd
1:151400785 POGZ T>C	1	151400785	151400785	T	C	POGZ	c.673A>G	NM_015100.4	NP_055915.2:p.(Asn225Asp)	NC_000001.10:g.151400785T>C	(Likely) benign	1 lab	09396745d5
12:93968495 SOCS2 C>T	12	93968495	93968495	C	T	SOCS2	c.140-3C>T	NM_001270471.2	NP_001257400.1:p.?	NC_000012.11:g.93968495C>T	(Likely) benign	1 lab	093c7cdc0f
5:89949160 ADGRV1 G>A	5	89949160	89949160	G	A	ADGRV1	c.3769G>A	NM_032119.4	NP_115495.3:p.(Val1257Ile)	NC_000005.9:g.89949160G>A	(Likely) benign	1 lab	093cc431de
7:33427677 BBS9 G>T	7	33427677	33427677	G	T	BBS9	c.2036G>T	NM_198428.3	NP_940820.1:p.(Arg679Leu)	NC_000007.13:g.33427677G>T	VUS	1 lab	095ec9eec7
3:69057590 EOGT G>A	3	69057590	69057590	G	A	EOGT	c.300C>T	NM_001278689.2	NP_001265618.1:p.(Val100=)	NC_000003.11:g.69057590G>A	(Likely) benign	1 lab	093cd5f311
20:3678679 SIGLEC1 G>C	20	3678679	3678679	G	C	SIGLEC1	c.1888C>G	NM_023068.4	NP_075556.1:p.(Pro630Ala)	NC_000020.10:g.3678679G>C	VUS	1 lab	093e5daff0
6:21595428 SOX4 A>AGGC	6	21595428	21595445	A	AGGC	SOX4	c.678_680dup	NM_003107.3	NP_003098.1:p.(Gly227dup)	NC_000006.11:g.21595443_21595445dup	(Likely) benign	1 lab	09413b35f6
9:33524697 ANKRD18B G>A	9	33524697	33524697	G	A	ANKRD18B	c.206+4G>A	NM_001393611.1	NP_001380540.1:p.?	NC_000009.11:g.33524697G>A	(Likely) benign	1 lab	09415095c8
X:134421109 ZNF75D A>G	X	134421109	134421109	A	G	ZNF75D	c.1493T>C	NM_007131.5	NP_009062.2:p.(Leu498Pro)	NC_000023.10:g.134421109A>G	VUS	1 lab	0941819018
18:42531950 SETBP1 C>T	18	42531950	42531950	C	T	SETBP1	c.2645C>T	NM_015559.3	NP_056374.2:p.(Ala882Val)	NC_000018.9:g.42531950C>T	VUS	1 lab	0941f0305b
17:29661949 NF1 A>T	17	29661949	29661949	A	T	NF1	c.5906A>T	NM_001042492.3	NP_001035957.1:p.(Gln1969Leu)	NC_000017.10:g.29661949A>T	(Likely) benign	1 lab	0941f11e2e
15:66198477 MEGF11 C>T	15	66198477	66198477	C	T	MEGF11	c.3001G>A	NM_001385028.1	NP_001371957.1:p.(Ala1001Thr)	NC_000015.9:g.66198477C>T	(Likely) benign	1 lab	09432e6925
7:107564540 LAMB1 G>GAT	7	107564540	107564542	G	GAT	LAMB1	c.5225-9_5225-8insAT	NM_002291.3	NP_002282.2:p.?	NC_000007.13:g.107564541_107564542insTA	(Likely) benign	1 lab	09450fbb03
3:113172674 SPICE1 C>T	3	113172674	113172674	C	T	SPICE1	c.1781G>A	NM_144718.4	NP_653319.1:p.(Ser594Asn)	NC_000003.11:g.113172674C>T	(Likely) benign	1 lab	0945272143
14:92505942 TRIP11 T>C	14	92505942	92505942	T	C	TRIP11	c.88A>G	NM_004239.4	NP_004230.2:p.(Ile30Val)	NC_000014.8:g.92505942T>C	VUS	1 lab	094663adac
6:43020388 CUL7 G>A	6	43020388	43020388	G	A	CUL7	c.139C>T	NM_014780.5	NP_055595.2:p.(Arg47Cys)	NC_000006.11:g.43020388G>A	VUS	1 lab	09476ef1f5
10:76780552 KAT6B A>G	10	76780552	76780552	A	G	KAT6B	c.2842A>G	NM_012330.4	NP_036462.2:p.(Ile948Val)	NC_000010.10:g.76780552A>G	(Likely) benign	1 lab	0947f17ae2
19:36577688 WDR62 C>T	19	36577688	36577688	C	T	WDR62	c.1742C>T	NM_001083961.2	NP_001077430.1:p.(Ser581Phe)	NC_000019.9:g.36577688C>T	VUS	1 lab	0948dbea3b
2:73680741 ALMS1 C>G	2	73680741	73680741	C	G	ALMS1	c.7087C>G	NM_001378454.1	NP_001365383.1:p.(Leu2363Val)	NC_000002.11:g.73680741C>G	(Likely) benign	1 lab	09495bf561
5:94936596 ARSK T>C	5	94936596	94936596	T	C	ARSK	c.1142T>C	NM_198150.3	NP_937793.1:p.(Leu381Ser)	NC_000005.9:g.94936596T>C	VUS	1 lab	09776aa40a
12:122064794 ORAI1 G>GT	12	122064794	122064795	G	GT	ORAI1	c.138_141delinsACCGCCGCCGT	NM_032790.4	NP_116179.2:p.(Ser48ProfsTer42)	NC_000012.11:g.122064795dup	(Likely) benign	1 lab	09497b7c27
12:121431314 HNF1A T>A	12	121431314	121431314	T	A	HNF1A	c.527-9T>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121431314T>A	VUS	1 lab	094a067cce
9:35805811 NPR2 G>A	9	35805811	35805811	G	A	NPR2	c.2048-16G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35805811G>A	(Likely) benign	1 lab	094ad4566d
3:38049588 PLCD1 C>T	3	38049588	38049588	C	T	PLCD1	c.2165G>A	NM_001130964.2	NP_001124436.1:p.(Arg722His)	NC_000003.11:g.38049588C>T	VUS	1 lab	19bec87707
16:72058091 DHODH G>A	16	72058091	72058091	G	A	DHODH	c.1181G>A	NM_001361.5	NP_001352.2:p.(Arg394Gln)	NC_000016.9:g.72058091G>A	VUS	1 lab	094b41760d
2:249775 SH3YL1 G>T	2	249775	249775	G	T	SH3YL1	c.182C>A	NM_015677.4	NP_056492.2:p.(Ala61Asp)	NC_000002.11:g.249775G>T	VUS	1 lab	094bb94c2d
8:105405162 DPYS C>T	8	105405162	105405162	C	T	DPYS	c.1293G>A	NM_001385.3	NP_001376.1:p.(Met431Ile)	NC_000008.10:g.105405162C>T	(Likely) benign	1 lab	094d0f7c4a
8:42151050 IKBKB T>G	8	42151050	42151050	T	G	IKBKB	c.388+20T>G	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42151050T>G	(Likely) benign	1 lab	094dfc896c
3:52172265 POC1A T>C	3	52172265	52172265	T	C	POC1A	c.733A>G	NM_015426.5	NP_056241.3:p.(Ile245Val)	NC_000003.11:g.52172265T>C	VUS	1 lab	094f14c3d3
1:74957776 LRRC53 C>T	1	74957776	74957776	C	T	LRRC53	c.-26-8717G>A	NM_001382280.1	NP_001369209.1:p.?	NC_000001.10:g.74957776C>T	(Likely) benign	1 lab	0950268242
1:74819718 TNNI3K A>G	1	74819718	74819718	A	G	TNNI3K	c.1082A>G	NM_015978.3	NP_057062.1:p.(Asp361Gly)	NC_000001.10:g.74819718A>G	VUS	1 lab	19c2476039
15:42111100 MAPKBP1 C>T	15	42111100	42111100	C	T	MAPKBP1	c.2254C>T	NM_001128608.2	NP_001122080.1:p.(Arg752Trp)	NC_000015.9:g.42111100C>T	(Likely) benign	1 lab	1a2e6b6b74
12:21623283 RECQL AC>A	12	21623283	21623284	AC	A	RECQL	c.1798-4del	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623284del	(Likely) benign	1 lab	0952a11f8c
6:121768434 GJA1 G>T	6	121768434	121768434	G	T	GJA1	c.441G>T	NM_000165.5	NP_000156.1:p.(Met147Ile)	NC_000006.11:g.121768434G>T	VUS	1 lab	0952b3ace5
16:2147934 PKD1 C>T	16	2147934	2147934	C	T	PKD1	c.10102G>A	NM_001009944.3	NP_001009944.3:p.(Asp3368Asn)	NC_000016.9:g.2147934C>T	(Likely) benign	1 lab	0952f69bb3
13:42623060 DGKH C>A	13	42623060	42623060	C	A	DGKH	c.151C>A	NM_178009.5	NP_821077.1:p.(Leu51Met)	NC_000013.10:g.42623060C>A	(Likely) benign	1 lab	09534b70aa
1:116944189 ATP1A1 A>G	1	116944189	116944189	A	G	ATP1A1	c.2863A>G	NM_000701.8	NP_000692.2:p.(Ile955Val)	NC_000001.10:g.116944189A>G	(Likely) benign	1 lab	0953d1fcf9
5:61714955 IPO11 G>T	5	61714955	61714955	G	T	IPO11	c.-7+6199G>T	NM_016338.5	NP_057422.3:p.?	NC_000005.9:g.61714955G>T	VUS	1 lab	0953fd2007
20:43251663 ADA G>A	20	43251663	43251663	G	A	ADA	c.663C>T	NM_000022.4	NP_000013.2:p.(Ala221=)	NC_000020.10:g.43251663G>A	(Likely) benign	1 lab	19c51805e5
19:15276290 NOTCH3 G>A	19	15276290	15276290	G	A	NOTCH3	c.5704C>T	NM_000435.3	NP_000426.2:p.(Arg1902Cys)	NC_000019.9:g.15276290G>A	VUS	1 lab	095612cbbf
3:47451438 PTPN23 C>T	3	47451438	47451438	C	T	PTPN23	c.2150C>T	NM_015466.4	NP_056281.1:p.(Pro717Leu)	NC_000003.11:g.47451438C>T	VUS	1 lab	19c6a33947
2:128379611 MYO7B G>A	2	128379611	128379611	G	A	MYO7B	c.3580G>A	NM_001393586.1	NP_001380515.1:p.(Glu1194Lys)	NC_000002.11:g.128379611G>A	VUS	1 lab	09581716b3
15:99472831 IGF1R G>A	15	99472831	99472831	G	A	IGF1R	c.2827G>A	NM_000875.5	NP_000866.1:p.(Ala943Thr)	NC_000015.9:g.99472831G>A	(Likely) benign	1 lab	0958b4ebd7
22:42606992 TCF20 G>C	22	42606992	42606992	G	C	TCF20	c.4320C>G	NM_001378418.1	NP_001365347.1:p.(Ser1440Arg)	NC_000022.10:g.42606992G>C	(Likely) benign	1 lab	0958cf5cff
1:40432551 MFSD2A G>A	1	40432551	40432551	G	A	MFSD2A	c.874G>A	NM_032793.5	NP_116182.2:p.(Gly292Ser)	NC_000001.10:g.40432551G>A	VUS	1 lab	095904776e
16:28620166 SULT1A1 A>T	16	28620166	28620166	A	T	SULT1A1	c.11T>A	NM_001055.4	NP_001046.2:p.(Ile4Asn)	NC_000016.9:g.28620166A>T	(Likely) benign	1 lab	095a5f168a
3:126735830 PLXNA1 G>A	3	126735830	126735830	G	A	PLXNA1	c.3226G>A	NM_032242.4	NP_115618.3:p.(Val1076Ile)	NC_000003.11:g.126735830G>A	(Likely) benign	1 lab	095bf02173
15:99500515 IGF1R G>T	15	99500515	99500515	G	T	IGF1R	c.3948G>T	NM_000875.5	NP_000866.1:p.(Leu1316=)	NC_000015.9:g.99500515G>T	VUS	1 lab	095cb838cf
12:4383352 CCND2 A>G	12	4383352	4383352	A	G	CCND2	c.146A>G	NM_001759.4	NP_001750.1:p.(Lys49Arg)	NC_000012.11:g.4383352A>G	VUS	1 lab	095cec04f0
4:74283973 ALB T>C	4	74283973	74283973	T	C	ALB	c.1597T>C	NM_000477.7	NP_000468.1:p.(Phe533Leu)	NC_000004.11:g.74283973T>C	VUS	1 lab	095e66eacd
1:196434461 KCNT2 C>A	1	196434461	196434461	C	A	KCNT2	c.600G>T	NM_198503.5	NP_940905.2:p.(Leu200Phe)	NC_000001.10:g.196434461C>A	VUS	1 lab	095e6e2e12
2:197298104 HECW2 C>T	2	197298104	197298104	C	T	HECW2	c.44G>A	NM_001348768.2	NP_001335697.1:p.(Arg15Gln)	NC_000002.11:g.197298104C>T	(Likely) benign	1 lab	095fa688dc
5:7867919 FASTKD3 T>C	5	7867919	7867919	T	C	FASTKD3	c.278A>G	NM_024091.4	NP_076996.2:p.(Asn93Ser)	NC_000005.9:g.7867919T>C	VUS	1 lab	0960d259a1
4:5754710 EVC C>T	4	5754710	5754710	C	T	EVC	c.1246C>T	NM_153717.3	NP_714928.1:p.(Arg416Trp)	NC_000004.11:g.5754710C>T	(Likely) benign	1 lab	09622422b3
4:88537204 DSPP CGACAGCAGT>C	4	88537204	88537215	CGACAGCAGT	C	DSPP	c.3393_3401del	NM_014208.3	NP_055023.2:p.(Asp1137_Ser1139del)	NC_000004.11:g.88537207_88537215del	(Likely) benign	1 lab	0964dd3f88
9:131094540 COQ4 G>A	9	131094540	131094540	G	A	COQ4	c.511G>A	NM_016035.5	NP_057119.3:p.(Gly171Arg)	NC_000009.11:g.131094540G>A	(Likely) benign	1 lab	09652d7d5e
3:126723819 PLXNA1 C>T	3	126723819	126723819	C	T	PLXNA1	c.1711C>T	NM_032242.4	NP_115618.3:p.(Arg571Cys)	NC_000003.11:g.126723819C>T	VUS	1 lab	0965bc30b6
3:119112385 ARHGAP31 A>G	3	119112385	119112385	A	G	ARHGAP31	c.953A>G	NM_020754.4	NP_065805.2:p.(Lys318Arg)	NC_000003.11:g.119112385A>G	(Likely) benign	1 lab	09660bfd24
2:8919227 KIDINS220 C>T	2	8919227	8919227	C	T	KIDINS220	c.2413G>A	NM_020738.4	NP_065789.1:p.(Ala805Thr)	NC_000002.11:g.8919227C>T	VUS	1 lab	0969c1ce3a
X:15870536 AP1S2 C>T	X	15870536	15870536	C	T	AP1S2	c.112G>A	NM_001272071.2	NP_001259000.1:p.(Val38Ile)	NC_000023.10:g.15870536C>T	VUS	1 lab	0969e93128
7:127983766 RBM28 C>T	7	127983766	127983766	C	T	RBM28	c.82G>A	NM_018077.3	NP_060547.2:p.(Gly28Arg)	NC_000007.13:g.127983766C>T	VUS	1 lab	096bb6f97b
5:126161747 LMNB1 C>T	5	126161747	126161747	C	T	LMNB1	c.1559C>T	NM_005573.4	NP_005564.1:p.(Ser520Leu)	NC_000005.9:g.126161747C>T	VUS	1 lab	096e8150e6
19:14218772 PRKACA C>T	19	14218772	14218772	C	T	PRKACA	c.47-551G>A	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14218772C>T	(Likely) benign	1 lab	097355fc5d
X:50653913 BMP15 C>G	X	50653913	50653913	C	G	BMP15	c.130C>G	NM_005448.2	NP_005439.2:p.(Leu44Val)	NC_000023.10:g.50653913C>G	VUS	1 lab	09739c9d8d
3:10076390 FANCD2 A>C	3	10076390	10076390	A	C	FANCD2	c.285A>C	NM_001018115.3	NP_001018125.1:p.(Glu95Asp)	NC_000003.11:g.10076390A>C	VUS	1 lab	0974998123
15:89401572 ACAN C>T	15	89401572	89401572	C	T	ACAN	c.5756C>T	NM_001369268.1	NP_001356197.1:p.(Ser1919Leu)	NC_000015.9:g.89401572C>T	VUS	1 lab	0977a4247d
X:131762468 HS6ST2 C>A	X	131762468	131762468	C	A	HS6ST2	c.1721G>T	NM_001394073.1	NP_001381002.1:p.(Gly574Val)	NC_000023.10:g.131762468C>A	VUS	1 lab	097b7854db
X:23731271 ACOT9 G>A	X	23731271	23731271	G	A	ACOT9	c.643C>T	NM_001037171.2	NP_001032248.1:p.(Arg215Cys)	NC_000023.10:g.23731271G>A	VUS	1 lab	097c262832
11:5719719 TRIM22 A>G	11	5719719	5719719	A	G	TRIM22	c.694A>G	NM_006074.5	NP_006065.2:p.(Thr232Ala)	NC_000011.9:g.5719719A>G	(Likely) benign	1 lab	1a3145d07c
10:20290835 PLXDC2 G>A	10	20290835	20290835	G	A	PLXDC2	c.244G>A	NM_032812.9	NP_116201.7:p.(Val82Ile)	NC_000010.10:g.20290835G>A	(Likely) benign	1 lab	097d1b277d
19:52888070 ZNF880 T>TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	19	52888070	52888071	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	ZNF880	c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	NM_001145434.2	NP_001138906.1:p.(Cys413PhefsTer26)	NC_000019.9:g.52888070_52888071insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	(Likely) benign	1 lab	097de34fe2
18:2920883 LPIN2 C>T	18	2920883	2920883	C	T	LPIN2	c.2443-4G>A	NM_014646.2	NP_055461.1:p.?	NC_000018.9:g.2920883C>T	(Likely) benign	1 lab	e52bbadc69
7:143029550 CLCN1 C>T	7	143029550	143029550	C	T	CLCN1	c.1205C>T	NM_000083.3	NP_000074.3:p.(Ala402Val)	NC_000007.13:g.143029550C>T	VUS	1 lab	09807b6058
1:200817855 CAMSAP2 G>T	1	200817855	200817855	G	T	CAMSAP2	c.1958G>T	NM_203459.4	NP_982284.1:p.(Arg653Leu)	NC_000001.10:g.200817855G>T	VUS	1 lab	0981a283b1
11:6655175 DCHS1 C>T	11	6655175	6655175	C	T	DCHS1	c.2063G>A	NM_003737.4	NP_003728.1:p.(Arg688Gln)	NC_000011.9:g.6655175C>T	VUS	1 lab	0981f49c24
X:90691106 PABPC5 T>C	X	90691106	90691106	T	C	PABPC5	c.530T>C	NM_080832.3	NP_543022.1:p.(Val177Ala)	NC_000023.10:g.90691106T>C	VUS	1 lab	0982e9df6f
13:110855957 COL4A1 AC>A	13	110855957	110855958	AC	A	COL4A1	c.958-4del	NM_001845.6	NP_001836.3:p.?	NC_000013.10:g.110855958del	VUS	1 lab	0983624725
X:152483224 MAGEA1 CT>C	X	152483224	152483225	CT	C	MAGEA1	c.-138-2del	NM_004988.5	NP_004979.3:p.?	NC_000023.10:g.152483225del	VUS	1 lab	0987132c67
17:36093706 HNF1B T>TG	17	36093706	36093707	T	TG	HNF1B	c.652dup	NM_000458.4	NP_000449.1:p.(Gln218ProfsTer4)	NC_000017.10:g.36093707dup	(Likely) pathogenic	1 lab	09886a7b67
1:11894075 CLCN6 A>G	1	11894075	11894075	A	G	CLCN6	c.1514A>G	NM_001286.5	NP_001277.2:p.(Asn505Ser)	NC_000001.10:g.11894075A>G	(Likely) benign	1 lab	0989e79df1
19:36594342 WDR62 C>T	19	36594342	36594342	C	T	WDR62	c.3612C>T	NM_001083961.2	NP_001077430.1:p.(Gly1204=)	NC_000019.9:g.36594342C>T	(Likely) benign	1 lab	098acb50ba
16:70288560 AARS1 G>C	16	70288560	70288560	G	C	AARS1	c.2364C>G	NM_001605.3	NP_001596.2:p.(Asn788Lys)	NC_000016.9:g.70288560G>C	(Likely) benign	1 lab	098b2e927f
X:21874460 MBTPS2 CT>C	X	21874460	21874463	CT	C	MBTPS2	c.670+2842del	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21874463del	VUS	1 lab	2baf48e6ff
19:8670055 ADAMTS10 G>A	19	8670055	8670055	G	A	ADAMTS10	c.277C>T	NM_030957.4	NP_112219.3:p.(Arg93Cys)	NC_000019.9:g.8670055G>A	VUS	1 lab	098d7861f8
12:49434337 KMT2D C>T	12	49434337	49434337	C	T	KMT2D	c.7216G>A	NM_003482.4	NP_003473.3:p.(Asp2406Asn)	NC_000012.11:g.49434337C>T	VUS	1 lab	098e0266dc
17:29325895 RNF135 G>T	17	29325895	29325895	G	T	RNF135	c.985G>T	NM_032322.4	NP_115698.3:p.(Val329Leu)	NC_000017.10:g.29325895G>T	VUS	1 lab	098fc997a9
6:56483819 DST G>T	6	56483819	56483819	G	T	DST	c.4930-4537C>A	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56483819G>T	(Likely) benign	1 lab	099096879a
9:35800112 NPR2 G>A	9	35800112	35800112	G	A	NPR2	c.1081G>A	NM_003995.4	NP_003986.2:p.(Gly361Arg)	NC_000009.11:g.35800112G>A	VUS	1 lab	0990b50aac
6:70950441 COL9A1 A>T	6	70950441	70950441	A	T	COL9A1	c.2035-5T>A	NM_001851.6	NP_001842.3:p.?	NC_000006.11:g.70950441A>T	(Likely) benign	1 lab	0990f9ee55
8:77768204 ZFHX4 A>T	8	77768204	77768204	A	T	ZFHX4	c.9047A>T	NM_024721.5	NP_078997.4:p.(Tyr3016Phe)	NC_000008.10:g.77768204A>T	(Likely) benign	1 lab	0991eda88c
19:10893731 DNM2 C>T	19	10893731	10893731	C	T	DNM2	c.784C>T	NM_001005361.3	NP_001005361.1:p.(His262Tyr)	NC_000019.9:g.10893731C>T	VUS	1 lab	09924d3107
1:46089267 CCDC17 G>T	1	46089267	46089267	G	T	CCDC17	c.232C>A	NM_001114938.3	NP_001108410.2:p.(Gln78Lys)	NC_000001.10:g.46089267G>T	VUS	1 lab	099292a040
1:247588885 NLRP3 G>T	1	247588885	247588885	G	T	NLRP3	c.2134G>T	NM_001243133.2	NP_001230062.1:p.(Ala712Ser)	NC_000001.10:g.247588885G>T	VUS	1 lab	1a377f99a4
X:91873323 PCDH11X G>A	X	91873323	91873323	G	A	PCDH11X	c.3428G>A	NM_032968.5	NP_116750.1:p.(Cys1143Tyr)	NC_000023.10:g.91873323G>A	VUS	1 lab	0992f9f047
5:33751626 ADAMTS12 C>G	5	33751626	33751626	C	G	ADAMTS12	c.517G>C	NM_030955.4	NP_112217.2:p.(Asp173His)	NC_000005.9:g.33751626C>G	VUS	1 lab	09930379fe
17:7752291 KDM6B CA>C	17	7752291	7752292	CA	C	KDM6B	c.2686del	NM_001348716.2	NP_001335645.1:p.(Thr896ProfsTer19)	NC_000017.10:g.7752292del	(Likely) benign	1 lab	0994e68491
X:135112329 SLC9A6 T>A	X	135112329	135112329	T	A	SLC9A6	c.1581+8T>A	NM_001379110.1	NP_001366039.1:p.?	NC_000023.10:g.135112329T>A	(Likely) benign	1 lab	09950f7b3f
20:57896161 EDN3 C>T	20	57896161	57896161	C	T	EDN3	c.455C>T	NM_207034.3	NP_996917.1:p.(Ser152Leu)	NC_000020.10:g.57896161C>T	VUS	1 lab	09971b6b82
X:105970349 RNF128 G>C	X	105970349	105970349	G	C	RNF128	c.206G>C	NM_194463.2	NP_919445.1:p.(Gly69Ala)	NC_000023.10:g.105970349G>C	VUS	1 lab	0997bcb1ca
5:153085403 GRIA1 T>A	5	153085403	153085403	T	A	GRIA1	c.1599T>A	NM_000827.4	NP_000818.2:p.(Asp533Glu)	NC_000005.9:g.153085403T>A	VUS	1 lab	0998566ff8
1:218578564 TGFB2 G>A	1	218578564	218578564	G	A	TGFB2	c.400G>A	NM_003238.6	NP_003229.1:p.(Val134Ile)	NC_000001.10:g.218578564G>A	VUS	1 lab	0999604b79
3:130367936 COL6A6 C>G	3	130367936	130367936	C	G	COL6A6	c.5263C>G	NM_001102608.3	NP_001096078.1:p.(Pro1755Ala)	NC_000003.11:g.130367936C>G	(Likely) benign	1 lab	0999ab77fb
5:68840936 OCLN G>A	5	68840936	68840936	G	A	OCLN	c.1243G>A	NM_001205254.2	NP_001192183.1:p.(Asp415Asn)	NC_000005.9:g.68840936G>A	VUS	1 lab	099b091e26
2:178257724 AGPS A>AGCGCCCACGGCC	2	178257724	178257736	A	AGCGCCCACGGCC	AGPS	c.208_219dup	NM_003659.4	NP_003650.1:p.(Ala70_Ala73dup)	NC_000002.11:g.178257725_178257736dup	VUS	1 lab	099cfd324e
21:47809305 PCNT G>T	21	47809305	47809305	G	T	PCNT	c.3799G>T	NM_006031.6	NP_006022.3:p.(Val1267Leu)	NC_000021.8:g.47809305G>T	VUS	1 lab	099f73f62d
5:68840880 OCLN A>G	5	68840880	68840880	A	G	OCLN	c.1187A>G	NM_001205254.2	NP_001192183.1:p.(Asp396Gly)	NC_000005.9:g.68840880A>G	VUS	1 lab	099f9a7aa0
4:57425674 SPMAP2L A>G	4	57425674	57425674	A	G	SPMAP2L	c.710A>G	NM_001256475.2	NP_001243404.1:p.(Tyr237Cys)	NC_000004.11:g.57425674A>G	(Likely) benign	1 lab	099f9efff7
X:57618621 ZXDB T>C	X	57618621	57618621	T	C	ZXDB	c.140T>C	NM_007157.4	NP_009088.1:p.(Leu47Pro)	NC_000023.10:g.57618621T>C	(Likely) benign	1 lab	099fdd72d2
16:2025628 TBL3 C>T	16	2025628	2025628	C	T	TBL3	c.904C>T	NM_006453.3	NP_006444.2:p.(His302Tyr)	NC_000016.9:g.2025628C>T	VUS	1 lab	09a0c8e7b5
1:22150110 LDLRAD2 G>A	1	22150110	22150110	G	A	LDLRAD2	c.*1402G>A	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150110G>A	(Likely) benign	1 lab	09a32ed401
17:38792281 SMARCE1 C>T	17	38792281	38792281	C	T	SMARCE1	c.443G>A	NM_003079.5	NP_003070.3:p.(Arg148His)	NC_000017.10:g.38792281C>T	(Likely) benign	1 lab	09a4dcdaab
6:39284597 KCNK16 T>G	6	39284597	39284597	T	G	KCNK16	c.622A>C	NM_001135106.2	NP_001128578.1:p.(Ile208Leu)	NC_000006.11:g.39284597T>G	(Likely) benign	1 lab	09a6077182
1:160098506 ATP1A2 C>T	1	160098506	160098506	C	T	ATP1A2	c.1082C>T	NM_000702.4	NP_000693.1:p.(Ala361Val)	NC_000001.10:g.160098506C>T	(Likely) pathogenic	1 lab	09a9aeab37
7:91630202 AKAP9 T>C	7	91630202	91630202	T	C	AKAP9	c.971T>C	NM_005751.5	NP_005742.4:p.(Ile324Thr)	NC_000007.13:g.91630202T>C	VUS	1 lab	09ab296047
1:152283937 FLG TG>T	1	152283937	152283938	TG	T	FLG	c.3424del	NM_002016.2	NP_002007.1:p.(Gln1142LysfsTer44)	NC_000001.10:g.152283938del	(Likely) pathogenic	1 lab	09af28461b
11:65810948 GAL3ST3 C>T	11	65810948	65810948	C	T	GAL3ST3	c.326G>A	NM_033036.3	NP_149025.1:p.(Arg109His)	NC_000011.9:g.65810948C>T	(Likely) benign	1 lab	09b0809b9a
19:38931427 RYR1 G>A	19	38931427	38931427	G	A	RYR1	c.88G>A	NM_000540.3	NP_000531.2:p.(Glu30Lys)	NC_000019.9:g.38931427G>A	VUS	1 lab	09b0e01f35
1:161090298 NIT1 C>T	1	161090298	161090298	C	T	NIT1	c.727C>T	NM_005600.3	NP_005591.1:p.(Arg243Trp)	NC_000001.10:g.161090298C>T	VUS	1 lab	09b4acf011
19:3651893 PIP5K1C A>G	19	3651893	3651893	A	G	PIP5K1C	c.1058T>C	NM_012398.3	NP_036530.1:p.(Leu353Pro)	NC_000019.9:g.3651893A>G	VUS	1 lab	09b4e4d795
19:55086271 LILRA2 G>A	19	55086271	55086271	G	A	LILRA2	c.426G>A	NM_001130917.3	NP_001124389.2:p.(Gln142=)	NC_000019.9:g.55086271G>A	(Likely) benign	1 lab	09b594ff80
11:13750296 FAR1 G>A	11	13750296	13750296	G	A	FAR1	c.1523G>A	NM_032228.6	NP_115604.1:p.(Arg508Gln)	NC_000011.9:g.13750296G>A	(Likely) benign	1 lab	09b5f61ac0
10:122666298 WDR11 T>G	10	122666298	122666298	T	G	WDR11	c.3448T>G	NM_018117.12	NP_060587.8:p.(Phe1150Val)	NC_000010.10:g.122666298T>G	VUS	1 lab	09b956a193
8:42177163 IKBKB G>A	8	42177163	42177163	G	A	IKBKB	c.1577G>A	NM_001556.3	NP_001547.1:p.(Arg526Gln)	NC_000008.10:g.42177163G>A	(Likely) benign	1 lab	09bb6ca368
12:7045879 ATN1 CCAGCAA>C	12	7045879	7045896	CCAGCAA	C	ATN1	c.1461_1466del	NM_001940.4	NP_001931.2:p.(Gln501_Gln502del)	NC_000012.11:g.7045891_7045896del	(Likely) benign	1 lab	09bbc7b7ca
13:28498545 PDX1 G>T	13	28498545	28498545	G	T	PDX1	c.559G>T	NM_000209.4	NP_000200.1:p.(Glu187Ter)	NC_000013.10:g.28498545G>T	VUS	1 lab	09be1489ec
17:1558765 PRPF8 G>C	17	1558765	1558765	G	C	PRPF8	c.5866C>G	NM_006445.4	NP_006436.3:p.(Pro1956Ala)	NC_000017.10:g.1558765G>C	VUS	1 lab	09be2157aa
6:163899811 QKI G>T	6	163899811	163899811	G	T	QKI	c.286-1G>T	NM_006775.3	NP_006766.1:p.?	NC_000006.11:g.163899811G>T	(Likely) benign	1 lab	09c080fbd8
16:30991220 SETD1A AGAG>A	16	30991220	30991232	AGAG	A	SETD1A	c.4123_4125del	NM_014712.3	NP_055527.1:p.(Glu1375del)	NC_000016.9:g.30991230_30991232del	VUS	1 lab	09c1df195d
7:44187447 GCK G>A	7	44187447	44187447	G	A	GCK	c.680-15C>T	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44187447G>A	(Likely) benign	1 lab	09c2bb97bb
13:32912710 BRCA2 A>G	13	32912710	32912710	A	G	BRCA2	c.4218A>G	NM_000059.4	NP_000050.3:p.(Lys1406=)	NC_000013.10:g.32912710A>G	(Likely) benign	1 lab	09c3b8346e
4:167020677 TLL1 G>A	4	167020677	167020677	G	A	TLL1	c.2905G>A	NM_012464.5	NP_036596.3:p.(Gly969Arg)	NC_000004.11:g.167020677G>A	VUS	1 lab	09c4aade71
4:110773106 LRIT3 A>G	4	110773106	110773106	A	G	LRIT3	c.563A>G	NM_198506.5	NP_940908.3:p.(Asp188Gly)	NC_000004.11:g.110773106A>G	(Likely) benign	1 lab	09c6e754b4
6:117199016 RFX6 A>T	6	117199016	117199016	A	T	RFX6	c.281A>T	NM_173560.4	NP_775831.2:p.(Asp94Val)	NC_000006.11:g.117199016A>T	VUS	1 lab	09c7b19525
13:114061507 ADPRHL1 C>T	13	114061507	114061507	C	T	ADPRHL1	c.2090G>A	NM_001394807.1	NP_001381736.1:p.(Arg697Lys)	NC_000013.10:g.114061507C>T	VUS	1 lab	09c7d4e1b2
9:117052497 COL27A1 C>A	9	117052497	117052497	C	A	COL27A1	c.4261-7C>A	NM_032888.4	NP_116277.2:p.?	NC_000009.11:g.117052497C>A	(Likely) benign	1 lab	09c871acab
19:39224336 CAPN12 T>TC	19	39224336	39224338	T	TC	CAPN12	c.1957+6dup	NM_144691.4	NP_653292.2:p.?	NC_000019.9:g.39224338dup	VUS	1 lab	09ca71affc
9:35079208 FANCG G>A	9	35079208	35079208	G	A	FANCG	c.115C>T	NM_004629.2	NP_004620.1:p.(Arg39Ter)	NC_000009.11:g.35079208G>A	VUS	1 lab	09cad9d0ef
7:65444861 GUSB C>A	7	65444861	65444861	C	A	GUSB	c.434G>T	NM_000181.4	NP_000172.2:p.(Gly145Val)	NC_000007.13:g.65444861C>A	VUS	1 lab	09cb3d44f6
1:145039594 PDE4DIP T>C	1	145039594	145039594	T	C	PDE4DIP	c.16A>G	NM_001395426.1	NP_001382355.1:p.(Thr6Ala)	NC_000001.10:g.145039594T>C	VUS	1 lab	09cbb6718f
22:45255629 ARHGAP8 G>C	22	45255629	45255629	G	C	ARHGAP8	c.896G>C	NM_181335.3	NP_851852.2:p.(Arg299Pro)	NC_000022.10:g.45255629G>C	VUS	1 lab	09ce4be38b
16:70551632 COG4 T>G	16	70551632	70551632	T	G	COG4	c.266A>C	NM_015386.3	NP_056201.2:p.(Gln89Pro)	NC_000016.9:g.70551632T>G	VUS	1 lab	09cec833d5
16:88873780 CDT1 A>C	16	88873780	88873780	A	C	CDT1	c.1367A>C	NM_030928.4	NP_112190.2:p.(Glu456Ala)	NC_000016.9:g.88873780A>C	VUS	1 lab	09cee37a69
19:57327943 ZIM2 T>G	19	57327943	57327943	T	G	ZIM2	c.490+1171A>C	NM_001387356.1	NP_001374285.1:p.?	NC_000019.9:g.57327943T>G	VUS	1 lab	09d39da5a2
19:17951097 JAK3 T>C	19	17951097	17951097	T	C	JAK3	c.1196A>G	NM_000215.4	NP_000206.2:p.(Tyr399Cys)	NC_000019.9:g.17951097T>C	VUS	1 lab	09d77d1929
9:18574237 ADAMTSL1 G>A	9	18574237	18574237	G	A	ADAMTSL1	c.447G>A	NM_001040272.6	NP_001035362.3:p.(Leu149=)	NC_000009.11:g.18574237G>A	VUS	1 lab	09d7e6d101
20:390801 RBCK1 C>T	20	390801	390801	C	T	RBCK1	c.167+132C>T	NM_031229.4	NP_112506.2:p.?	NC_000020.10:g.390801C>T	(Likely) benign	1 lab	1a38c6fdb6
12:96380231 HAL G>A	12	96380231	96380231	G	A	HAL	c.1052-293C>T	NM_002108.4	NP_002099.1:p.?	NC_000012.11:g.96380231G>A	(Likely) benign	1 lab	09db3139ae
19:15288936 NOTCH3 T>C	19	15288936	15288936	T	C	NOTCH3	c.3838-35A>G	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15288936T>C	VUS	1 lab	09deef28f2
1:228559084 OBSCN G>A	1	228559084	228559084	G	A	OBSCN	c.23476G>A	NM_001386125.1	NP_001373054.1:p.(Val7826Ile)	NC_000001.10:g.228559084G>A	(Likely) benign	1 lab	09dff4a956
1:156096227 LMNA C>T	1	156096227	156096227	C	T	LMNA	c.357-4181C>T	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156096227C>T	(Likely) benign	1 lab	09e0e4f113
11:108188158 ATM A>T	11	108188158	108188158	A	T	ATM	c.6257A>T	NM_000051.4	NP_000042.3:p.(Tyr2086Phe)	NC_000011.9:g.108188158A>T	VUS	1 lab	09e177d99f
22:26997843 CRYBB1 G>A	22	26997843	26997843	G	A	CRYBB1	c.575C>T	NM_001887.4	NP_001878.1:p.(Thr192Ile)	NC_000022.10:g.26997843G>A	VUS	1 lab	09ec380825
13:39262850 FREM2 C>G	13	39262850	39262850	C	G	FREM2	c.1369C>G	NM_207361.6	NP_997244.4:p.(Leu457Val)	NC_000013.10:g.39262850C>G	VUS	1 lab	09e24e2fb3
2:29455153 ALK C>T	2	29455153	29455153	C	T	ALK	c.2632+17G>A	NM_004304.5	NP_004295.2:p.?	NC_000002.11:g.29455153C>T	(Likely) benign	1 lab	19c859391b
1:146724392 CHD1L T>C	1	146724392	146724392	T	C	CHD1L	c.240+2T>C	NM_004284.6	NP_004275.4:p.?	NC_000001.10:g.146724392T>C	VUS	1 lab	09e4c7a998
15:64067595 HERC1 G>C	15	64067595	64067595	G	C	HERC1	c.228C>G	NM_003922.4	NP_003913.3:p.(Asp76Glu)	NC_000015.9:g.64067595G>C	(Likely) benign	1 lab	09e515f708
3:151161266 IGSF10 G>T	3	151161266	151161266	G	T	IGSF10	c.5469C>A	NM_178822.5	NP_849144.2:p.(Ser1823Arg)	NC_000003.11:g.151161266G>T	VUS	1 lab	09e56c8375
11:121028833 TECTA A>G	11	121028833	121028833	A	G	TECTA	c.4589A>G	NM_005422.4	NP_005413.2:p.(Asn1530Ser)	NC_000011.9:g.121028833A>G	VUS	1 lab	09e61667e5
4:81952658 BMP3 C>T	4	81952658	81952658	C	T	BMP3	c.220C>T	NM_001201.5	NP_001192.4:p.(Arg74Trp)	NC_000004.11:g.81952658C>T	(Likely) benign	1 lab	09e896d74b
12:112308076 MAPKAPK5 T>C	12	112308076	112308076	T	C	MAPKAPK5	c.395T>C	NM_003668.4	NP_003659.2:p.(Ile132Thr)	NC_000012.11:g.112308076T>C	VUS	1 lab	09e930f418
X:27840405 MAGEB10 G>A	X	27840405	27840405	G	A	MAGEB10	c.982G>A	NM_182506.3	NP_872312.2:p.(Val328Ile)	NC_000023.10:g.27840405G>A	(Likely) benign	1 lab	09e94d7a0c
22:31010474 TCN2 G>A	22	31010474	31010474	G	A	TCN2				NC_000022.10:g.31010474G>A	(Likely) benign	1 lab	1a39315fe0
2:170062948 LRP2 T>C	2	170062948	170062948	T	C	LRP2	c.7282A>G	NM_004525.3	NP_004516.2:p.(Ser2428Gly)	NC_000002.11:g.170062948T>C	(Likely) benign	1 lab	09ea3702d8
7:21805078 DNAH11 G>A	7	21805078	21805078	G	A	DNAH11	c.8973G>A	NM_001277115.2	NP_001264044.1:p.(Thr2991=)	NC_000007.13:g.21805078G>A	(Likely) benign	1 lab	09eb3602d1
6:43484915 POLR1C A>G	6	43484915	43484915	A	G	POLR1C	c.68A>G	NM_203290.4	NP_976035.1:p.(Asn23Ser)	NC_000006.11:g.43484915A>G	VUS	1 lab	09eb8d1410
X:83588848 HDX T>G	X	83588848	83588848	T	G	HDX	c.1743A>C	NM_001177479.2	NP_001170950.1:p.(Lys581Asn)	NC_000023.10:g.83588848T>G	VUS	1 lab	09ee0aed18
X:135428828 ADGRG4 C>T	X	135428828	135428828	C	T	ADGRG4	c.2963C>T	NM_153834.4	NP_722576.3:p.(Thr988Met)	NC_000023.10:g.135428828C>T	VUS	1 lab	09efddaabe
22:51135999 SHANK3 C>G	22	51135999	51135999	C	G	SHANK3	c.1579C>G	NM_001372044.2	NP_001358973.1:p.(Pro527Ala)	NC_000022.10:g.51135999C>G	VUS	1 lab	09f0cb52fe
15:99500464 IGF1R C>G	15	99500464	99500464	C	G	IGF1R	c.3897C>G	NM_000875.5	NP_000866.1:p.(Asn1299Lys)	NC_000015.9:g.99500464C>G	VUS	1 lab	09f1035d78
17:61490953 TANC2 C>T	17	61490953	61490953	C	T	TANC2	c.3726C>T	NM_025185.4	NP_079461.2:p.(Ile1242=)	NC_000017.10:g.61490953C>T	(Likely) benign	1 lab	1a3ac7815d
14:105412755 AHNAK2 T>G	14	105412755	105412755	T	G	AHNAK2	c.9033A>C	NM_138420.4	NP_612429.2:p.(Glu3011Asp)	NC_000014.8:g.105412755T>G	(Likely) benign	1 lab	09f265ece6
9:139401040 NOTCH1 T>C	9	139401040	139401040	T	C	NOTCH1	c.3953A>G	NM_017617.5	NP_060087.3:p.(Asn1318Ser)	NC_000009.11:g.139401040T>C	VUS	1 lab	09f27b7cd3
7:152007449 KMT2C C>T	7	152007449	152007449	C	T	KMT2C	c.740-289G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152007449C>T	(Likely) benign	1 lab	09f3f01f22
2:233350871 ECEL1 G>T	2	233350871	233350871	G	T	ECEL1	c.493C>A	NM_004826.4	NP_004817.2:p.(Leu165Met)	NC_000002.11:g.233350871G>T	VUS	1 lab	09f4a5fca7
19:42791698 CIC G>A	19	42791698	42791698	G	A	CIC	c.3311G>A	NM_001386298.1	NP_001373227.1:p.(Arg1104Gln)	NC_000019.9:g.42791698G>A	VUS	1 lab	09f59c67c5
20:44237357 WFDC9 G>A	20	44237357	44237357	G	A	WFDC9	c.184C>T	NM_147198.4	NP_671731.1:p.(Arg62Cys)	NC_000020.10:g.44237357G>A	(Likely) benign	1 lab	09f5a382df
10:114849168 TCF7L2 C>A	10	114849168	114849168	C	A	TCF7L2	c.552+49283C>A	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114849168C>A	VUS	1 lab	09f5a7f44d
3:194790454 XXYLT1 G>A	3	194790454	194790454	G	A	XXYLT1	c.1172C>T	NM_152531.5	NP_689744.3:p.(Pro391Leu)	NC_000003.11:g.194790454G>A	(Likely) benign	1 lab	09f6204bcc
10:124361618 DMBT1 G>A	10	124361618	124361618	G	A	DMBT1	c.3649G>A	NM_001377530.1	NP_001364459.1:p.(Ala1217Thr)	NC_000010.10:g.124361618G>A	(Likely) benign	1 lab	09f7a763d1
19:22847810 ZNF492 A>G	19	22847810	22847810	A	G	ZNF492	c.1339A>G	NM_020855.3	NP_065906.1:p.(Lys447Glu)	NC_000019.9:g.22847810A>G	VUS	1 lab	09fbee3096
17:48697188 CACNA1G G>A	17	48697188	48697188	G	A	CACNA1G	c.5925+1G>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48697188G>A	(Likely) benign	1 lab	09fc602022
1:66458661 PDE4B G>C	1	66458661	66458661	G	C	PDE4B	c.281+74143G>C	NM_002600.4	NP_002591.2:p.?	NC_000001.10:g.66458661G>C	(Likely) benign	1 lab	09fd9e1d6b
X:63488915 MTMR8 T>G	X	63488915	63488915	T	G	MTMR8	c.1617A>C	NM_017677.4	NP_060147.2:p.(Lys539Asn)	NC_000023.10:g.63488915T>G	(Likely) benign	1 lab	09fdb579a7
20:30816221 POFUT1 C>T	20	30816221	30816221	C	T	POFUT1	c.698C>T	NM_015352.2	NP_056167.1:p.(Pro233Leu)	NC_000020.10:g.30816221C>T	VUS	1 lab	09fdfcd2e9
2:128184732 PROC C>T	2	128184732	128184732	C	T	PROC	c.730C>T	NM_000312.4	NP_000303.1:p.(His244Tyr)	NC_000002.11:g.128184732C>T	VUS	1 lab	09fe3c8a0a
14:75017876 LTBP2 C>T	14	75017876	75017876	C	T	LTBP2	c.1577G>A	NM_000428.3	NP_000419.1:p.(Ser526Asn)	NC_000014.8:g.75017876C>T	VUS	1 lab	0a012f906f
5:76351357 AGGF1 A>G	5	76351357	76351357	A	G	AGGF1	c.1652A>G	NM_018046.5	NP_060516.2:p.(Lys551Arg)	NC_000005.9:g.76351357A>G	(Likely) benign	1 lab	0a0253ff34
5:79950682 DHFR C>T	5	79950682	79950682	C	T	DHFR	c.-374G>A	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950682C>T	VUS	1 lab	0a026d9f45
7:140476895 BRAF A>G	7	140476895	140476895	A	G	BRAF	c.1518-7T>C	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140476895A>G	(Likely) benign	1 lab	0a046fcab7
11:61110043 TKFC C>G	11	61110043	61110043	C	G	TKFC	c.691-3C>G	NM_015533.4	NP_056348.2:p.?	NC_000011.9:g.61110043C>G	VUS	1 lab	0a136ec4a9
6:148846430 SASH1 A>G	6	148846430	148846430	A	G	SASH1	c.1213A>G	NM_015278.5	NP_056093.3:p.(Thr405Ala)	NC_000006.11:g.148846430A>G	(Likely) benign	1 lab	0a06e1de61
9:100819142 NANS C>G	9	100819142	100819142	C	G	NANS	c.52C>G	NM_018946.4	NP_061819.2:p.(Pro18Ala)	NC_000009.11:g.100819142C>G	VUS	1 lab	0a06eb3edb
5:135394850 TGFBI G>A	5	135394850	135394850	G	A	TGFBI	c.1750G>A	NM_000358.3	NP_000349.1:p.(Gly584Arg)	NC_000005.9:g.135394850G>A	VUS	1 lab	0a08f56085
18:77246394 NFATC1 G>A	18	77246394	77246394	G	A	NFATC1	c.2239G>A	NM_001278669.2	NP_001265598.1:p.(Gly747Ser)	NC_000018.9:g.77246394G>A	(Likely) benign	1 lab	0a09c4c145
22:32100644 PRR14L G>A	22	32100644	32100644	G	A	PRR14L	c.5825C>T	NM_173566.3	NP_775837.2:p.(Thr1942Met)	NC_000022.10:g.32100644G>A	VUS	1 lab	0a09d829dd
17:73585402 MYO15B A>G	17	73585402	73585402	A	G	MYO15B	c.1264A>G	NM_001395058.1	NP_001381987.1:p.(Lys422Glu)	NC_000017.10:g.73585402A>G	VUS	1 lab	0a0a7ffb53
4:113356435 ALPK1 C>G	4	113356435	113356435	C	G	ALPK1	c.3166C>G	NM_025144.4	NP_079420.3:p.(His1056Asp)	NC_000004.11:g.113356435C>G	VUS	1 lab	0a0bb652c6
3:172163161 GHSR A>T	3	172163161	172163161	A	T	GHSR	c.891T>A	NM_198407.2	NP_940799.1:p.(Ile297=)	NC_000003.11:g.172163161A>T	(Likely) benign	1 lab	0a0c22a8bc
3:71102891 FOXP1 C>T	3	71102891	71102891	C	T	FOXP1	c.316G>A	NM_001349338.3	NP_001336267.1:p.(Val106Ile)	NC_000003.11:g.71102891C>T	(Likely) benign	1 lab	0a0e9f11ea
7:143013293 CLCN1 G>A	7	143013293	143013293	G	A	CLCN1	c.-13G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143013293G>A	VUS	1 lab	0a0fb0b6ac
8:133141637 KCNQ3 G>A	8	133141637	133141637	G	A	KCNQ3	c.2491C>T	NM_004519.4	NP_004510.1:p.(Arg831Trp)	NC_000008.10:g.133141637G>A	(Likely) benign	1 lab	0a101a0430
2:161052880 ITGB6 G>A	2	161052880	161052880	G	A	ITGB6	c.193C>T	NM_000888.5	NP_000879.2:p.(Leu65Phe)	NC_000002.11:g.161052880G>A	VUS	1 lab	0a1132feb2
8:99135639 POP1 G>A	8	99135639	99135639	G	A	POP1	c.74G>A	NM_001145860.2	NP_001139332.1:p.(Gly25Asp)	NC_000008.10:g.99135639G>A	(Likely) benign	1 lab	0a1144ed70
17:73732740 ITGB4 A>G	17	73732740	73732740	A	G	ITGB4	c.1955A>G	NM_000213.5	NP_000204.3:p.(Asn652Ser)	NC_000017.10:g.73732740A>G	VUS	1 lab	0a12953fbc
7:91842546 KRIT1 T>C	7	91842546	91842546	T	C	KRIT1	c.1988A>G	NM_194454.3	NP_919436.1:p.(Asn663Ser)	NC_000007.13:g.91842546T>C	VUS	1 lab	0a13411f3f
10:27322197 ANKRD26 T>C	10	27322197	27322197	T	C	ANKRD26	c.3764A>G	NM_014915.3	NP_055730.2:p.(Glu1255Gly)	NC_000010.10:g.27322197T>C	VUS	1 lab	0a13aa8820
X:2761108 GYG2 C>A	X	2761108	2761108	C	A	GYG2	c.8-146C>A	NM_001079855.2	NP_001073324.1:p.?	NC_000023.10:g.2761108C>A	(Likely) benign	1 lab	0a1433fc00
X:107224933 TEX13B T>G	X	107224933	107224933	T	G	TEX13B	c.425A>C	NM_031273.2	NP_112563.1:p.(Glu142Ala)	NC_000023.10:g.107224933T>G	VUS	1 lab	0a15ab9688
18:31318959 ASXL3 A>G	18	31318959	31318959	A	G	ASXL3	c.1591A>G	NM_030632.3	NP_085135.1:p.(Thr531Ala)	NC_000018.9:g.31318959A>G	(Likely) benign	1 lab	0a16dfad35
4:106068155 TET2 T>C	4	106068155	106068155	T	C	TET2	c.-193+19T>C	NM_001127208.3	NP_001120680.1:p.?	NC_000004.11:g.106068155T>C	(Likely) benign	1 lab	0a1769057c
16:2156181 PKD1 C>T	16	2156181	2156181	C	T	PKD1	c.7614G>A	NM_001009944.3	NP_001009944.3:p.(Val2538=)	NC_000016.9:g.2156181C>T	(Likely) benign	1 lab	0a18a97c93
1:119427467 TBX15 A>C	1	119427467	119427467	A	C	TBX15	c.1697T>G	NM_001330677.2	NP_001317606.1:p.(Met566Arg)	NC_000001.10:g.119427467A>C	(Likely) benign	1 lab	0a1b916081
15:30664545 CHRFAM7A C>T	15	30664545	30664545	C	T	CHRFAM7A	c.329-1G>A	NM_139320.2	NP_647536.1:p.?	NC_000015.9:g.30664545C>T	VUS	1 lab	0a1bbce825
19:58773541 ZNF544 C>G	19	58773541	58773541	C	G	ZNF544	c.1569C>G	NM_014480.4	NP_055295.2:p.(Asn523Lys)	NC_000019.9:g.58773541C>G	VUS	1 lab	0a1c168de8
10:81052034 ZMIZ1 C>T	10	81052034	81052034	C	T	ZMIZ1	c.878C>T	NM_020338.4	NP_065071.1:p.(Ala293Val)	NC_000010.10:g.81052034C>T	(Likely) benign	1 lab	0a1c9ad7a3
X:118222369 KIAA1210 C>T	X	118222369	118222369	C	T	KIAA1210	c.2296G>A	NM_001394962.1	NP_001381891.1:p.(Val766Met)	NC_000023.10:g.118222369C>T	(Likely) benign	1 lab	0a1e9f086f
8:68346183 CPA6 T>C	8	68346183	68346183	T	C	CPA6	c.1041+90A>G	NM_020361.5	NP_065094.3:p.?	NC_000008.10:g.68346183T>C	(Likely) benign	1 lab	1a3c520de9
2:209108301 IDH1 T>C	2	209108301	209108301	T	C	IDH1	c.548A>G	NM_005896.4	NP_005887.2:p.(Tyr183Cys)	NC_000002.11:g.209108301T>C	(Likely) benign	1 lab	0a1fdc35cc
6:90382002 MDN1 C>T	6	90382002	90382002	C	T	MDN1	c.13711G>A	NM_014611.3	NP_055426.1:p.(Val4571Met)	NC_000006.11:g.90382002C>T	VUS	1 lab	0a20657bf5
3:4735186 ITPR1 G>A	3	4735186	4735186	G	A	ITPR1	c.4042G>A	NM_001378452.1	NP_001365381.1:p.(Gly1348Arg)	NC_000003.11:g.4735186G>A	VUS	1 lab	0a214bd36a
13:28494575 PDX1 C>T	13	28494575	28494575	C	T	PDX1	c.300C>T	NM_000209.4	NP_000200.1:p.(Phe100=)	NC_000013.10:g.28494575C>T	(Likely) benign	1 lab	0a216c9abf
5:60628540 ZSWIM6 G>GGGC	5	60628540	60628561	G	GGGC	ZSWIM6	c.460_462dup	NM_020928.2	NP_065979.1:p.(Gly154dup)	NC_000005.9:g.60628559_60628561dup	VUS	1 lab	0a222dca62
22:39909600 MIEF1 G>A	22	39909600	39909600	G	A	MIEF1	c.664G>A	NM_019008.6	NP_061881.2:p.(Asp222Asn)	NC_000022.10:g.39909600G>A	(Likely) benign	1 lab	0a22390c94
6:146755675 GRM1 G>A	6	146755675	146755675	G	A	GRM1	c.3328G>A	NM_001278064.2	NP_001264993.1:p.(Val1110Met)	NC_000006.11:g.146755675G>A	VUS	1 lab	0a3e89847a
1:210856699 KCNH1 TGA>T	1	210856699	210856704	TGA	T	KCNH1	c.2892_2893del	NM_172362.3	NP_758872.1:p.(Gln965ValfsTer7)	NC_000001.10:g.210856703_210856704del	(Likely) benign	1 lab	0a2461514e
15:43276195 UBR1 G>C	15	43276195	43276195	G	C	UBR1	c.4054-4C>G	NM_174916.3	NP_777576.1:p.?	NC_000015.9:g.43276195G>C	(Likely) benign	1 lab	0a2893c665
1:16255224 SPEN C>T	1	16255224	16255224	C	T	SPEN	c.2489C>T	NM_015001.3	NP_055816.2:p.(Ser830Phe)	NC_000001.10:g.16255224C>T	VUS	1 lab	0a2aae5e2c
19:40420097 FCGBP C>A	19	40420097	40420097	C	A	FCGBP	c.2897G>T	NM_003890.3	NP_003881.2:p.(Gly966Val)	NC_000019.9:g.40420097C>A	(Likely) benign	1 lab	0a2b1d1c90
6:110088076 FIG4 A>G	6	110088076	110088076	A	G	FIG4	c.1728A>G	NM_014845.6	NP_055660.1:p.(Arg576=)	NC_000006.11:g.110088076A>G	VUS	1 lab	0a2b29a8bc
X:119211087 RHOXF2B G>GCCGCCGCCATCTTTTTCTTCT	X	119211087	119211134	G	GCCGCCGCCATCTTTTTCTTCT	RHOXF2B	c.225_245dup	NM_001099685.3	NP_001093155.1:p.(Glu76_Gly82dup)	NC_000023.10:g.119211114_119211134dup	VUS	1 lab	0a2b599558
8:62626879 ASPH A>AGCCGCTGCTGCTGCTGTT	8	62626879	62626906	A	AGCCGCTGCTGCTGCTGTT	ASPH	c.34_51dup	NM_004318.4	NP_004309.2:p.(Asn12_Gly17dup)	NC_000008.10:g.62626889_62626906dup	VUS	1 lab	0a2cc8e877
9:2039790 SMARCA2 A>AGCC	9	2039790	2039793	A	AGCC	SMARCA2	c.682_683insCGC	NM_003070.5	NP_003061.3:p.(Gln227_Gln228insPro)	NC_000009.11:g.2039792_2039793insCGC	VUS	1 lab	0a2d4ee2ed
X:53222029 KDM5C T>G	X	53222029	53222029	T	G	KDM5C	c.*120A>C	NM_004187.5	NP_004178.2:p.?	NC_000023.10:g.53222029T>G	VUS	1 lab	0a2ea30f48
15:64710891 TRIP4 A>T	15	64710891	64710891	A	T	TRIP4	c.1322A>T	NM_016213.5	NP_057297.2:p.(Gln441Leu)	NC_000015.9:g.64710891A>T	VUS	1 lab	0a2fa94131
17:38782972 SMARCE1 A>G	17	38782972	38782972	A	G	SMARCE1	c.*2065T>C	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38782972A>G	(Likely) benign	1 lab	0a2fb396e7
6:73839560 KCNQ5 C>T	6	73839560	73839560	C	T	KCNQ5	c.1248-3584C>T	NM_019842.4	NP_062816.2:p.?	NC_000006.11:g.73839560C>T	(Likely) benign	1 lab	0a3120bd06
9:119459650 ASTN2 A>G	9	119459650	119459650	A	G	ASTN2	c.2806+28400T>C	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119459650A>G	(Likely) benign	1 lab	0a317103f5
18:59777146 PIGN G>GA	18	59777146	59777152	G	GA	PIGN	c.1494dup	NM_176787.5	NP_789744.1:p.(Leu499SerfsTer58)	NC_000018.9:g.59777152dup	(Likely) pathogenic	1 lab	0a337cd457
X:64139985 ZC4H2 T>C	X	64139985	64139985	T	C	ZC4H2	c.374A>G	NM_018684.4	NP_061154.1:p.(Glu125Gly)	NC_000023.10:g.64139985T>C	VUS	1 lab	0a33e6731f
4:81952658 BMP3 C>G	4	81952658	81952658	C	G	BMP3	c.220C>G	NM_001201.5	NP_001192.4:p.(Arg74Gly)	NC_000004.11:g.81952658C>G	(Likely) benign	1 lab	0a3418c2d2
12:113617004 DDX54 G>A	12	113617004	113617004	G	A	DDX54	c.508C>T	NM_024072.4	NP_076977.3:p.(Leu170Phe)	NC_000012.11:g.113617004G>A	VUS	1 lab	0a3494573a
11:6412607 SMPD1 A>T	11	6412607	6412607	A	T	SMPD1	c.319-7A>T	NM_000543.5	NP_000534.3:p.?	NC_000011.9:g.6412607A>T	(Likely) benign	1 lab	0a366fb1e9
2:44187733 LRPPRC G>C	2	44187733	44187733	G	C	LRPPRC	c.1529C>G	NM_133259.4	NP_573566.2:p.(Ala510Gly)	NC_000002.11:g.44187733G>C	(Likely) benign	1 lab	19c8db6bde
13:25672168 PABPC3 C>T	13	25672168	25672168	C	T	PABPC3	c.1832C>T	NM_030979.3	NP_112241.2:p.(Ala611Val)	NC_000013.10:g.25672168C>T	VUS	1 lab	0a371be0ea
7:130080985 CEP41 G>A	7	130080985	130080985	G	A	CEP41				NC_000007.13:g.130080985G>A	(Likely) benign	1 lab	1a45b81cb4
17:36104818 HNF1B C>G	17	36104818	36104818	C	G	HNF1B	c.58G>C	NM_000458.4	NP_000449.1:p.(Gly20Arg)	NC_000017.10:g.36104818C>G	VUS	1 lab	0a38b5426b
19:1054868 ABCA7 G>A	19	1054868	1054868	G	A	ABCA7	c.3941G>A	NM_019112.4	NP_061985.2:p.(Ser1314Asn)	NC_000019.9:g.1054868G>A	VUS	1 lab	0a39c1c6a5
12:2682176 CACNA1C TC>T	12	2682176	2682178	TC	T	CACNA1C	c.1895+5218del	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2682178del	(Likely) benign	1 lab	0a39dad6d1
17:17700607 RAI1 C>T	17	17700607	17700607	C	T	RAI1	c.4345C>T	NM_030665.4	NP_109590.3:p.(Arg1449Trp)	NC_000017.10:g.17700607C>T	(Likely) benign	1 lab	0a3a67ecd2
3:111286375 CD96 G>C	3	111286375	111286375	G	C	CD96	c.424G>C	NM_005816.5	NP_005807.1:p.(Ala142Pro)	NC_000003.11:g.111286375G>C	(Likely) benign	1 lab	0a3ab2b46e
6:155561791 TIAM2 G>A	6	155561791	155561791	G	A	TIAM2	c.3296G>A	NM_012454.4	NP_036586.3:p.(Arg1099His)	NC_000006.11:g.155561791G>A	VUS	1 lab	0a3b1baa24
17:65907483 BPTF T>G	17	65907483	65907483	T	G	BPTF	c.3483T>G	NM_182641.4	NP_872579.2:p.(Tyr1161Ter)	NC_000017.10:g.65907483T>G	(Likely) pathogenic	1 lab	0a3f3b6818
X:107978383 IRS4 G>C	X	107978383	107978383	G	C	IRS4	c.1192C>G	NM_001379150.1	NP_001366079.1:p.(Arg398Gly)	NC_000023.10:g.107978383G>C	VUS	1 lab	0a401a76e9
17:38793828 SMARCE1 C>T	17	38793828	38793828	C	T	SMARCE1	c.157-4G>A	NM_003079.5	NP_003070.3:p.?	NC_000017.10:g.38793828C>T	(Likely) benign	1 lab	0a42f99b53
5:137736443 KDM3B A>AATTC	5	137736443	137736447	A	AATTC	KDM3B	c.3199+745_3199+746insCATT	NM_016604.4	NP_057688.3:p.?	NC_000005.9:g.137736446_137736447insCATT	(Likely) benign	1 lab	0a46b962a2
19:15302318 NOTCH3 C>A	19	15302318	15302318	C	A	NOTCH3	c.953G>T	NM_000435.3	NP_000426.2:p.(Cys318Phe)	NC_000019.9:g.15302318C>A	(Likely) pathogenic	1 lab	0a46f28298
3:32409391 CMTM8 G>A	3	32409391	32409391	G	A	CMTM8	c.349G>A	NM_178868.5	NP_849199.2:p.(Val117Ile)	NC_000003.11:g.32409391G>A	VUS	1 lab	0a4801e460
16:2153771 PKD1 G>C	16	2153771	2153771	G	C	PKD1	c.8287C>G	NM_001009944.3	NP_001009944.3:p.(Leu2763Val)	NC_000016.9:g.2153771G>C	VUS	1 lab	0a484ef558
12:63963124 DPY19L2 C>T	12	63963124	63963124	C	T	DPY19L2	c.2006G>A	NM_173812.5	NP_776173.3:p.(Arg669Gln)	NC_000012.11:g.63963124C>T	VUS	1 lab	0a4b6659e2
15:93543749 CHD2 TAAA>T	15	93543749	93543752	TAAA	T	CHD2	c.4017_4019del	NM_001271.4	NP_001262.3:p.(Lys1341del)	NC_000015.9:g.93543750_93543752del	VUS	1 lab	0a4b7ef695
16:68718560 CDH3 G>A	16	68718560	68718560	G	A	CDH3	c.1257G>A	NM_001793.6	NP_001784.2:p.(Lys419=)	NC_000016.9:g.68718560G>A	(Likely) benign	1 lab	0a4bbcc8da
15:89414704 ACAN C>CCGGTGT	15	89414704	89414713	C	CCGGTGT	ACAN	c.7156_7161dup	NM_001369268.1	NP_001356197.1:p.(Cys2386_Arg2387dup)	NC_000015.9:g.89414708_89414713dup	VUS	1 lab	0a4bbfeff6
15:55727164 DNAAF4 T>A	15	55727164	55727164	T	A	DNAAF4	c.986A>T	NM_130810.4	NP_570722.2:p.(Asn329Ile)	NC_000015.9:g.55727164T>A	VUS	1 lab	0a4de9de76
5:13842020 DNAH5 T>A	5	13842020	13842020	T	A	DNAH5	c.5272-7A>T	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13842020T>A	(Likely) benign	1 lab	0a4e05d34d
4:87638169 PTPN13 A>C	4	87638169	87638169	A	C	PTPN13	c.1292-8A>C	NM_080683.3	NP_542414.1:p.?	NC_000004.11:g.87638169A>C	(Likely) benign	1 lab	0a4e191cff
8:61741276 CHD7 T>C	8	61741276	61741276	T	C	CHD7	c.3433T>C	NM_017780.4	NP_060250.2:p.(Phe1145Leu)	NC_000008.10:g.61741276T>C	VUS	1 lab	0a4f8fa12c
1:237670081 RYR2 G>A	1	237670081	237670081	G	A	RYR2	c.2685G>A	NM_001035.3	NP_001026.2:p.(Met895Ile)	NC_000001.10:g.237670081G>A	VUS	1 lab	0a50240091
7:152009009 KMT2C T>C	7	152009009	152009009	T	C	KMT2C	c.613A>G	NM_170606.3	NP_733751.2:p.(Ile205Val)	NC_000007.13:g.152009009T>C	(Likely) benign	1 lab	0a50d7ef3e
9:124086918 GSN T>G	9	124086918	124086918	T	G	GSN	c.1412T>G	NM_198252.3	NP_937895.1:p.(Val471Gly)	NC_000009.11:g.124086918T>G	VUS	1 lab	0a53493add
2:152457023 NEB T>C	2	152457023	152457023	T	C	NEB	c.13721A>G	NM_001271208.1	NP_001258137.1:p.(His4574Arg)	NC_000002.11:g.152457023T>C	(Likely) benign	1 lab	1a4b037737
9:138664683 KCNT1 G>A	9	138664683	138664683	G	A	KCNT1	c.2131G>A	NM_020822.3	NP_065873.2:p.(Ala711Thr)	NC_000009.11:g.138664683G>A	VUS	1 lab	0a54218915
9:139734272 RABL6 G>A	9	139734272	139734272	G	A	RABL6	c.1885G>A	NM_024718.5	NP_078994.3:p.(Gly629Arg)	NC_000009.11:g.139734272G>A	(Likely) benign	1 lab	0a5423f685
12:110655954 IFT81 T>C	12	110655954	110655954	T	C	IFT81	c.1954T>C	NM_014055.4	NP_054774.2:p.(Cys652Arg)	NC_000012.11:g.110655954T>C	VUS	1 lab	0a564d07f8
18:28913601 DSG1 G>T	18	28913601	28913601	G	T	DSG1	c.734G>T	NM_001942.4	NP_001933.2:p.(Gly245Val)	NC_000018.9:g.28913601G>T	(Likely) benign	1 lab	0a57803160
21:47418234 COL6A1 G>C	21	47418234	47418234	G	C	COL6A1	c.1576-78G>C	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47418234G>C	(Likely) benign	1 lab	e87c308786
13:28597593 FLT3 T>G	13	28597593	28597593	T	G	FLT3	c.2312A>C	NM_004119.3	NP_004110.2:p.(Gln771Pro)	NC_000013.10:g.28597593T>G	VUS	1 lab	0a5d1f0149
20:61442922 OGFR C>T	20	61442922	61442922	C	T	OGFR	c.574C>T	NM_007346.4	NP_031372.2:p.(Arg192Ter)	NC_000020.10:g.61442922C>T	VUS	1 lab	0a5f379364
12:133253972 POLE G>A	12	133253972	133253972	G	A	POLE	c.778C>T	NM_006231.4	NP_006222.2:p.(Arg260Ter)	NC_000012.11:g.133253972G>A	VUS	1 lab	0a61853ed5
18:2763750 SMCHD1 T>C	18	2763750	2763750	T	C	SMCHD1	c.4682T>C	NM_015295.3	NP_056110.2:p.(Leu1561Pro)	NC_000018.9:g.2763750T>C	VUS	1 lab	0a630cbff7
21:45502929 TRAPPC10 G>A	21	45502929	45502929	G	A	TRAPPC10	c.1984G>A	NM_003274.5	NP_003265.3:p.(Ala662Thr)	NC_000021.8:g.45502929G>A	(Likely) benign	1 lab	0a63238fdd
4:6302741 WFS1 C>T	4	6302741	6302741	C	T	WFS1	c.1219C>T	NM_006005.3	NP_005996.2:p.(His407Tyr)	NC_000004.11:g.6302741C>T	VUS	1 lab	0a64762142
11:1253707 MUC5B G>A	11	1253707	1253707	G	A	MUC5B	c.1871G>A	NM_002458.3	NP_002449.2:p.(Arg624His)	NC_000011.9:g.1253707G>A	(Likely) benign	1 lab	0a64c7bedc
1:240286553 FMN2 C>T	1	240286553	240286553	C	T	FMN2	c.1690C>T	NM_020066.5	NP_064450.3:p.(Arg564Trp)	NC_000001.10:g.240286553C>T	(Likely) benign	1 lab	0a670fa1f2
7:26232969 HNRNPA2B1 T>C	7	26232969	26232969	T	C	HNRNPA2B1	c.866A>G	NM_002137.4	NP_002128.1:p.(Asn289Ser)	NC_000007.13:g.26232969T>C	VUS	1 lab	0a67a674df
7:193265 FAM20C G>A	7	193265	193265	G	A	FAM20C	c.66G>A	NM_020223.4	NP_064608.2:p.(Ala22=)	NC_000007.13:g.193265G>A	(Likely) benign	1 lab	0a6a00e454
5:66441069 MAST4 G>A	5	66441069	66441069	G	A	MAST4	c.2956G>A	NM_001164664.2	NP_001158136.1:p.(Glu986Lys)	NC_000005.9:g.66441069G>A	(Likely) benign	1 lab	0a6c73522d
13:111862344 ARHGEF7 A>T	13	111862344	111862344	A	T	ARHGEF7	c.463A>T	NM_001354046.2	NP_001340975.1:p.(Ser155Cys)	NC_000013.10:g.111862344A>T	(Likely) benign	1 lab	0a6cf77fb7
7:98576522 TRRAP G>T	7	98576522	98576522	G	T	TRRAP	c.8629G>T	NM_001375524.1	NP_001362453.1:p.(Val2877Leu)	NC_000007.13:g.98576522G>T	VUS	1 lab	0a6cfe809b
19:1466203 APC2 A>G	19	1466203	1466203	A	G	APC2	c.2903A>G	NM_005883.3	NP_005874.1:p.(Asp968Gly)	NC_000019.9:g.1466203A>G	VUS	1 lab	0a6d9bd9d1
12:125509852 BRI3BP G>GCCCCAGCAA	12	125509852	125509877	G	GCCCCAGCAA	BRI3BP	c.649_657dup	NM_080626.6	NP_542193.3:p.(Asn217_Ser219dup)	NC_000012.11:g.125509869_125509877dup	VUS	1 lab	0a6da0af09
6:87969481 ZNF292 T>C	6	87969481	87969481	T	C	ZNF292	c.6134T>C	NM_015021.3	NP_055836.1:p.(Val2045Ala)	NC_000006.11:g.87969481T>C	(Likely) benign	1 lab	0a6ee778e0
16:773111 CCDC78 A>G	16	773111	773111	A	G	CCDC78	c.1184T>C	NM_001378030.1	NP_001364959.1:p.(Phe395Ser)	NC_000016.9:g.773111A>G	VUS	1 lab	0a70c09153
9:39078720 CNTNAP3 G>A	9	39078720	39078720	G	A	CNTNAP3	c.3640C>T	NM_033655.5	NP_387504.2:p.(Arg1214Trp)	NC_000009.11:g.39078720G>A	VUS	1 lab	0a712ce1c7
9:35800119 NPR2 G>A	9	35800119	35800119	G	A	NPR2	c.1088G>A	NM_003995.4	NP_003986.2:p.(Arg363Gln)	NC_000009.11:g.35800119G>A	VUS	1 lab	0a712d96c9
X:152959980 SLC6A8 C>T	X	152959980	152959980	C	T	SLC6A8	c.1496-8C>T	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152959980C>T	(Likely) benign	1 lab	0a713d1f1d
1:151400694 POGZ G>C	1	151400694	151400694	G	C	POGZ	c.764C>G	NM_015100.4	NP_055915.2:p.(Thr255Ser)	NC_000001.10:g.151400694G>C	VUS	1 lab	0a730ac05f
16:2165401 PKD1 G>A	16	2165401	2165401	G	A	PKD1	c.2075C>T	NM_001009944.3	NP_001009944.3:p.(Ala692Val)	NC_000016.9:g.2165401G>A	VUS	1 lab	0a73680bef
19:42839443 MEGF8 C>T	19	42839443	42839443	C	T	MEGF8	c.740-6C>T	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42839443C>T	(Likely) benign	1 lab	0a750c90d0
16:56532393 BBS2 G>A	16	56532393	56532393	G	A	BBS2	c.1615C>T	NM_031885.5	NP_114091.4:p.(Arg539Trp)	NC_000016.9:g.56532393G>A	VUS	1 lab	0a7543b64c
13:21171253 IFT88 TACTC>T	13	21171253	21171258	TACTC	T	IFT88	c.591_594del	NM_006531.5	NP_006522.2:p.(Tyr197Ter)	NC_000013.10:g.21171255_21171258del	VUS	1 lab	0a76df89d3
3:113507638 ATP6V1A G>C	3	113507638	113507638	G	C	ATP6V1A	c.795G>C	NM_001690.4	NP_001681.2:p.(Lys265Asn)	NC_000003.11:g.113507638G>C	(Likely) pathogenic	1 lab	0a7a99c6e5
5:60839614 ZSWIM6 C>T	5	60839614	60839614	C	T	ZSWIM6	c.3118C>T	NM_020928.2	NP_065979.1:p.(Arg1040Cys)	NC_000005.9:g.60839614C>T	(Likely) benign	1 lab	0a7b1484fc
6:32181561 NOTCH4 C>T	6	32181561	32181561	C	T	NOTCH4	c.2224G>A	NM_004557.4	NP_004548.3:p.(Gly742Ser)	NC_000006.11:g.32181561C>T	VUS	1 lab	0a7b370b47
15:41851505 TYRO3 T>TGCC	15	41851505	41851514	T	TGCC	TYRO3	c.57_59dup	NM_006293.4	NP_006284.2:p.(Pro21dup)	NC_000015.9:g.41851512_41851514dup	VUS	1 lab	0a7c8f2d2b
7:34097779 BMPER T>C	7	34097779	34097779	T	C	BMPER	c.1032+4T>C	NM_001365308.1	NP_001352237.1:p.?	NC_000007.13:g.34097779T>C	(Likely) benign	1 lab	0a7c92abba
16:20441052 ACSM5 C>T	16	20441052	20441052	C	T	ACSM5	c.1054C>T	NM_017888.3	NP_060358.2:p.(Pro352Ser)	NC_000016.9:g.20441052C>T	(Likely) benign	1 lab	0a7e1412bf
19:18899084 COMP G>GTCCA	19	18899084	18899088	G	GTCCA	COMP	c.908_911dup	NM_000095.3	NP_000086.2:p.(Arg305GlyfsTer21)	NC_000019.9:g.18899085_18899088dup	(Likely) pathogenic	1 lab	0a7e959afb
17:27044666 RAB34 C>G	17	27044666	27044666	C	G	RAB34	c.-382G>C	NM_031934.6	NP_114140.4:p.?	NC_000017.10:g.27044666C>G	VUS	1 lab	0a7ea0a087
7:98567747 TRRAP G>A	7	98567747	98567747	G	A	TRRAP	c.7525G>A	NM_001375524.1	NP_001362453.1:p.(Val2509Met)	NC_000007.13:g.98567747G>A	(Likely) benign	1 lab	0a800c97fd
12:54379678 HOXC10 A>G	12	54379678	54379678	A	G	HOXC10	c.635A>G	NM_017409.4	NP_059105.2:p.(Asn212Ser)	NC_000012.11:g.54379678A>G	(Likely) benign	1 lab	0a807469a5
4:1801205 FGFR3 C>T	4	1801205	1801205	C	T	FGFR3	c.334C>T	NM_000142.5	NP_000133.1:p.(Arg112Trp)	NC_000004.11:g.1801205C>T	(Likely) benign	1 lab	0a80bdbfd5
4:6303882 WFS1 C>A	4	6303882	6303882	C	A	WFS1	c.2360C>A	NM_006005.3	NP_005996.2:p.(Ala787Asp)	NC_000004.11:g.6303882C>A	VUS	1 lab	0a80faaad9
3:195497089 MUC4 C>T	3	195497089	195497089	C	T	MUC4	c.13396G>A	NM_018406.7	NP_060876.5:p.(Gly4466Arg)	NC_000003.11:g.195497089C>T	(Likely) benign	1 lab	0a81f9bbb8
12:116408564 MED13L T>C	12	116408564	116408564	T	C	MED13L	c.5902A>G	NM_015335.5	NP_056150.1:p.(Met1968Val)	NC_000012.11:g.116408564T>C	(Likely) benign	1 lab	0a82af5ffa
16:29675897 SPN G>C	16	29675897	29675897	G	C	SPN	c.848G>C	NM_003123.6	NP_003114.1:p.(Arg283Pro)	NC_000016.9:g.29675897G>C	VUS	1 lab	0a83606c5c
17:48264214 COL1A1 G>A	17	48264214	48264214	G	A	COL1A1	c.3601C>T	NM_000088.4	NP_000079.2:p.(Leu1201=)	NC_000017.10:g.48264214G>A	(Likely) benign	1 lab	0a858dd8e9
20:31023556 ASXL1 G>A	20	31023556	31023556	G	A	ASXL1	c.3041G>A	NM_015338.6	NP_056153.2:p.(Ser1014Asn)	NC_000020.10:g.31023556G>A	(Likely) benign	1 lab	0a87c546b0
21:44473968 CBS G>A	21	44473968	44473968	G	A	CBS	c.*22C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44473968G>A	(Likely) benign	1 lab	0a8948c2de
11:67926107 KMT5B G>A	11	67926107	67926107	G	A	KMT5B	c.1706C>T	NM_017635.5	NP_060105.3:p.(Thr569Met)	NC_000011.9:g.67926107G>A	(Likely) benign	1 lab	0a89f8f1b3
17:11597670 DNAH9 A>G	17	11597670	11597670	A	G	DNAH9	c.4778A>G	NM_001372.4	NP_001363.2:p.(Tyr1593Cys)	NC_000017.10:g.11597670A>G	VUS	1 lab	0a8a3e507a
2:152402512 NEB ACTT>A	2	152402512	152402515	ACTT	A	NEB	c.20467-3_20467-1del	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152402513_152402515del	(Likely) pathogenic	1 lab	0a8cf08274
X:119387923 ZBTB33 A>T	X	119387923	119387923	A	T	ZBTB33	c.653A>T	NM_001184742.2	NP_001171671.1:p.(Gln218Leu)	NC_000023.10:g.119387923A>T	(Likely) benign	1 lab	0a8cf0d1ed
X:47918428 ZNF630 A>G	X	47918428	47918428	A	G	ZNF630	c.1403T>C	NM_001282201.2	NP_001269130.1:p.(Phe468Ser)	NC_000023.10:g.47918428A>G	VUS	1 lab	0a8d0ad323
1:197070999 ASPM G>A	1	197070999	197070999	G	A	ASPM	c.7382C>T	NM_018136.5	NP_060606.3:p.(Ala2461Val)	NC_000001.10:g.197070999G>A	VUS	1 lab	0a8f7a48aa
13:110838791 COL4A1 G>C	13	110838791	110838791	G	C	COL4A1	c.1838C>G	NM_001845.6	NP_001836.3:p.(Pro613Arg)	NC_000013.10:g.110838791G>C	VUS	1 lab	0a8f8f6355
X:31986517 DMD A>G	X	31986517	31986517	A	G	DMD	c.6553T>C	NM_004006.3	NP_003997.2:p.(Leu2185=)	NC_000023.10:g.31986517A>G	(Likely) benign	1 lab	0a8f9fd13b
11:62382181 ROM1 A>C	11	62382181	62382181	A	C	ROM1	c.926A>C	NM_000327.4	NP_000318.2:p.(Tyr309Ser)	NC_000011.9:g.62382181A>C	VUS	1 lab	0a9191789c
2:179534966 TTN G>T	2	179534966	179534966	G	T	TTN	c.35365C>A	NM_001267550.2	NP_001254479.2:p.(Pro11789Thr)	NC_000002.11:g.179534966G>T	VUS	1 lab	0a9259537f
20:62297360 RTEL1 A>G	20	62297360	62297360	A	G	RTEL1	c.542A>G	NM_001283009.2	NP_001269938.1:p.(Lys181Arg)	NC_000020.10:g.62297360A>G	(Likely) benign	1 lab	0a93716982
8:11666108 FDFT1 G>A	8	11666108	11666108	G	A	FDFT1	c.100-195G>A	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666108G>A	(Likely) benign	1 lab	0a93d5ba2f
21:47574148 FTCD G>T	21	47574148	47574148	G	T	FTCD	c.153C>A	NM_206965.2	NP_996848.1:p.(Phe51Leu)	NC_000021.8:g.47574148G>T	VUS	1 lab	0a94152758
1:11894063 CLCN6 G>A	1	11894063	11894063	G	A	CLCN6	c.1502G>A	NM_001286.5	NP_001277.2:p.(Arg501His)	NC_000001.10:g.11894063G>A	VUS	1 lab	0a95a9ec0c
9:2084199 SMARCA2 A>T	9	2084199	2084199	A	T	SMARCA2	c.2526+3A>T	NM_003070.5	NP_003061.3:p.?	NC_000009.11:g.2084199A>T	(Likely) benign	1 lab	0a95c839a5
2:179826129 CCDC141 G>T	2	179826129	179826129	G	T	CCDC141	c.608C>A	NM_173648.4	NP_775919.3:p.(Pro203His)	NC_000002.11:g.179826129G>T	(Likely) benign	1 lab	0a95fb9062
16:88804443 PIEZO1 C>T	16	88804443	88804443	C	T	PIEZO1	c.919G>A	NM_001142864.4	NP_001136336.2:p.(Gly307Ser)	NC_000016.9:g.88804443C>T	(Likely) benign	1 lab	0a99b4ad2e
11:130058433 ST14 G>A	11	130058433	130058433	G	A	ST14	c.250G>A	NM_021978.4	NP_068813.1:p.(Val84Met)	NC_000011.9:g.130058433G>A	(Likely) benign	1 lab	0a9b88de58
5:151045976 SPARC T>C	5	151045976	151045976	T	C	SPARC	c.680A>G	NM_003118.4	NP_003109.1:p.(Tyr227Cys)	NC_000005.9:g.151045976T>C	VUS	1 lab	0a9c1e2ce6
11:3060525 CARS1 G>A	11	3060525	3060525	G	A	CARS1	c.553-3C>T	NM_001014437.3	NP_001014437.1:p.?	NC_000011.9:g.3060525G>A	(Likely) benign	1 lab	0a9ee0d9e6
11:65664476 FOSL1 T>C	11	65664476	65664476	T	C	FOSL1	c.101A>G	NM_005438.5	NP_005429.1:p.(Lys34Arg)	NC_000011.9:g.65664476T>C	(Likely) benign	1 lab	0a9fea6f9f
7:128493596 FLNC G>C	7	128493596	128493596	G	C	FLNC	c.6282G>C	NM_001458.4	NP_001449.3:p.(Gly2094=)	NC_000007.13:g.128493596G>C	(Likely) benign	1 lab	1a4eec9ef5
22:37964153 CDC42EP1 C>T	22	37964153	37964153	C	T	CDC42EP1	c.502C>T	NM_152243.3	NP_689449.1:p.(Arg168Cys)	NC_000022.10:g.37964153C>T	VUS	1 lab	0aa2f80430
1:201180832 IGFN1 G>T	1	201180832	201180832	G	T	IGFN1	c.6811G>T	NM_001164586.2	NP_001158058.1:p.(Gly2271Cys)	NC_000001.10:g.201180832G>T	(Likely) benign	1 lab	0aa362f1a5
15:43075813 TTBK2 A>C	15	43075813	43075813	A	C	TTBK2	c.1001T>G	NM_173500.4	NP_775771.3:p.(Ile334Ser)	NC_000015.9:g.43075813A>C	VUS	1 lab	0aa4694733
3:4854831 ITPR1 G>A	3	4854831	4854831	G	A	ITPR1	c.7474G>A	NM_001378452.1	NP_001365381.1:p.(Gly2492Ser)	NC_000003.11:g.4854831G>A	(Likely) benign	1 lab	0aa4784dcd
10:15325916 FAM171A1 C>T	10	15325916	15325916	C	T	FAM171A1	c.286G>A	NM_001010924.2	NP_001010924.1:p.(Val96Met)	NC_000010.10:g.15325916C>T	VUS	1 lab	0aa4fba02d
2:215845329 ABCA12 C>A	2	215845329	215845329	C	A	ABCA12	c.4618G>T	NM_173076.3	NP_775099.2:p.(Ala1540Ser)	NC_000002.11:g.215845329C>A	VUS	1 lab	0aa764508c
3:8590279 LMCD1 C>T	3	8590279	8590279	C	T	LMCD1	c.413C>T	NM_014583.4	NP_055398.1:p.(Pro138Leu)	NC_000003.11:g.8590279C>T	VUS	1 lab	0aa858ce94
19:1466344 APC2 C>T	19	1466344	1466344	C	T	APC2	c.3044C>T	NM_005883.3	NP_005874.1:p.(Pro1015Leu)	NC_000019.9:g.1466344C>T	(Likely) benign	1 lab	0aa8e021a5
X:150793922 PASD1 A>G	X	150793922	150793922	A	G	PASD1	c.549A>G	NM_173493.3	NP_775764.2:p.(Gln183=)	NC_000023.10:g.150793922A>G	VUS	1 lab	0aaa2c3bd2
6:43483718 YIPF3 GCAT>G	6	43483718	43483723	GCAT	G	YIPF3	c.194_196del	NM_015388.4	NP_056203.2:p.(Asp65del)	NC_000006.11:g.43483721_43483723del	VUS	1 lab	0aacfcac68
1:240256023 FMN2 TGCAGCAGCAGCA>T	1	240256023	240256046	TGCAGCAGCAGCA	T	FMN2	c.626_637del	NM_020066.5	NP_064450.3:p.(Gln209_Gln212del)	NC_000001.10:g.240256035_240256046del	VUS	1 lab	0aad86f32e
11:64065027 KCNK4 CGTTCGT>C	11	64065027	64065037	CGTTCGT	C	KCNK4	c.568_573del	NM_033310.3	NP_201567.1:p.(Val190_Phe191del)	NC_000011.9:g.64065032_64065037del	VUS	1 lab	0aae126ec4
3:183888230 DVL3 T>TGCGGGGGCC	3	183888230	183888244	T	TGCGGGGGCC	DVL3	c.1844_1852dup	NM_004423.4	NP_004414.3:p.(Gly615_Arg617dup)	NC_000003.11:g.183888236_183888244dup	VUS	1 lab	0aae41261a
14:105715689 BTBD6 C>T	14	105715689	105715689	C	T	BTBD6	c.466-8C>T	NM_001387567.1	NP_001374496.1:p.?	NC_000014.8:g.105715689C>T	(Likely) benign	1 lab	0ab04c5ee3
2:48026736 MSH6 T>A	2	48026736	48026736	T	A	MSH6	c.1614T>A	NM_000179.3	NP_000170.1:p.(Tyr538Ter)	NC_000002.11:g.48026736T>A	(Likely) pathogenic	1 lab	0ab177e147
8:144994916 PLEC C>T	8	144994916	144994916	C	T	PLEC	c.9073G>A	NM_201384.3	NP_958786.1:p.(Val3025Ile)	NC_000008.10:g.144994916C>T	(Likely) benign	1 lab	0ab4401220
19:36213572 KMT2B C>T	19	36213572	36213572	C	T	KMT2B	c.2674C>T	NM_014727.3	NP_055542.1:p.(Arg892Cys)	NC_000019.9:g.36213572C>T	VUS	1 lab	0ab6f4f9ef
3:45765039 SACM1L T>C	3	45765039	45765039	T	C	SACM1L	c.921+4T>C	NM_014016.5	NP_054735.3:p.?	NC_000003.11:g.45765039T>C	(Likely) benign	1 lab	0ab7730bcf
2:63831834 MDH1 C>T	2	63831834	63831834	C	T	MDH1	c.503C>T	NM_005917.4	NP_005908.1:p.(Ala168Val)	NC_000002.11:g.63831834C>T	VUS	1 lab	0ab9f4ca09
19:39111083 EIF3K T>C	19	39111083	39111083	T	C	EIF3K	c.158+8T>C	NM_013234.4	NP_037366.1:p.?	NC_000019.9:g.39111083T>C	VUS	1 lab	0aba05db74
22:45779406 SMC1B C>A	22	45779406	45779406	C	A	SMC1B	c.1999G>T	NM_148674.5	NP_683515.4:p.(Asp667Tyr)	NC_000022.10:g.45779406C>A	VUS	1 lab	0aba7692ff
1:216420205 USH2A C>T	1	216420205	216420205	C	T	USH2A	c.2531G>A	NM_206933.4	NP_996816.3:p.(Cys844Tyr)	NC_000001.10:g.216420205C>T	VUS	1 lab	0abab794ba
8:38287464 FGFR1 G>C	8	38287464	38287464	G	C	FGFR1	c.94C>G	NM_023110.3	NP_075598.2:p.(Gln32Glu)	NC_000008.10:g.38287464G>C	VUS	1 lab	0abac7584d
11:124747058 ROBO3 C>G	11	124747058	124747058	C	G	ROBO3	c.2781C>G	NM_022370.4	NP_071765.2:p.(Ala927=)	NC_000011.9:g.124747058C>G	(Likely) benign	1 lab	0abb77705d
16:2169317 PKD1 A>G	16	2169317	2169317	A	G	PKD1	c.278T>C	NM_001009944.3	NP_001009944.3:p.(Leu93Pro)	NC_000016.9:g.2169317A>G	VUS	1 lab	0abbcd4f5f
1:226041407 TMEM63A G>A	1	226041407	226041407	G	A	TMEM63A	c.1720C>T	NM_014698.3	NP_055513.2:p.(Arg574Trp)	NC_000001.10:g.226041407G>A	VUS	1 lab	19d0e10d0f
15:80465488 FAH T>C	15	80465488	80465488	T	C	FAH	c.837+2T>C	NM_000137.4	NP_000128.1:p.?	NC_000015.9:g.80465488T>C	VUS	1 lab	1a513bc203
2:32842895 BIRC6 G>A	2	32842895	32842895	G	A	BIRC6	c.14498G>A	NM_016252.4	NP_057336.3:p.(Gly4833Asp)	NC_000002.11:g.32842895G>A	(Likely) benign	1 lab	0abde39fb3
9:138378308 PPP1R26 G>A	9	138378308	138378308	G	A	PPP1R26	c.1952G>A	NM_014811.5	NP_055626.3:p.(Gly651Asp)	NC_000009.11:g.138378308G>A	(Likely) benign	1 lab	0abee075b1
7:6852664 CCZ1B G>C	7	6852664	6852664	G	C	CCZ1B	c.785C>G	NM_198097.5	NP_932765.1:p.(Ala262Gly)	NC_000007.13:g.6852664G>C	(Likely) benign	1 lab	0abf36f160
12:102796346 IGF1 TATAA>T	12	102796346	102796355	TATAA	T	IGF1	c.403-6_403-3del	NM_000618.5	NP_000609.1:p.?	NC_000012.11:g.102796352_102796355del	VUS	1 lab	0ac21f3ebc
2:43768462 THADA C>CA	2	43768462	43768471	C	CA	THADA	c.3107-8dup	NM_022065.5	NP_071348.3:p.?	NC_000002.11:g.43768471dup	(Likely) benign	1 lab	0ac25ddeab
6:80910643 BCKDHB G>T	6	80910643	80910643	G	T	BCKDHB	c.743-8G>T	NM_183050.4	NP_898871.1:p.?	NC_000006.11:g.80910643G>T	(Likely) benign	1 lab	0ac2abb261
11:47464197 RAPSN C>T	11	47464197	47464197	C	T	RAPSN	c.690+11G>A	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47464197C>T	VUS	1 lab	0ac2c9e533
18:7043368 LAMA1 T>C	18	7043368	7043368	T	C	LAMA1	c.1013A>G	NM_005559.4	NP_005550.2:p.(Tyr338Cys)	NC_000018.9:g.7043368T>C	VUS	1 lab	0ac36a43a4
7:99702861 AP4M1 A>C	7	99702861	99702861	A	C	AP4M1	c.728-2A>C	NM_004722.4	NP_004713.2:p.?	NC_000007.13:g.99702861A>C	VUS	1 lab	0ac3e1e139
13:32915173 BRCA2 A>G	13	32915173	32915173	A	G	BRCA2	c.6681A>G	NM_000059.4	NP_000050.3:p.(Ala2227=)	NC_000013.10:g.32915173A>G	(Likely) benign	1 lab	0ac3f45c24
17:40766674 TUBG1 C>T	17	40766674	40766674	C	T	TUBG1	c.1157C>T	NM_001070.5	NP_001061.2:p.(Ser386Leu)	NC_000017.10:g.40766674C>T	VUS	1 lab	0ac6414f9e
3:14967579 FGD5 G>A	3	14967579	14967579	G	A	FGD5	c.4071G>A	NM_152536.4	NP_689749.3:p.(Val1357=)	NC_000003.11:g.14967579G>A	VUS	1 lab	0ac697fb8d
X:102885112 TCEAL1 T>G	X	102885112	102885112	T	G	TCEAL1	c.268T>G	NM_004780.3	NP_004771.2:p.(Cys90Gly)	NC_000023.10:g.102885112T>G	VUS	1 lab	0ac8cdc4b2
12:56437917 RPS26 T>A	12	56437917	56437917	T	A	RPS26	c.327T>A	NM_001029.5	NP_001020.2:p.(Arg109=)	NC_000012.11:g.56437917T>A	(Likely) benign	1 lab	0aca9d31b5
18:19751527 GATA6 C>G	18	19751527	19751527	C	G	GATA6	c.422C>G	NM_005257.6	NP_005248.2:p.(Pro141Arg)	NC_000018.9:g.19751527C>G	(Likely) benign	1 lab	0acad0599d
9:139089178 LHX3 T>G	9	139089178	139089178	T	G	LHX3	c.1187A>C	NM_178138.6	NP_835258.1:p.(Gln396Pro)	NC_000009.11:g.139089178T>G	(Likely) benign	1 lab	0acaf004c7
18:10759694 PIEZO2 C>T	18	10759694	10759694	C	T	PIEZO2	c.3655+9G>A	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10759694C>T	(Likely) benign	1 lab	0acea7eb1d
X:48853750 GRIPAP1 C>T	X	48853750	48853750	C	T	GRIPAP1	c.218G>A	NM_020137.5	NP_064522.4:p.(Ser73Asn)	NC_000023.10:g.48853750C>T	(Likely) benign	1 lab	0ad05723f5
11:47463483 RAPSN AG>A	11	47463483	47463485	AG	A	RAPSN	c.691-11del	NM_005055.5	NP_005046.2:p.?	NC_000011.9:g.47463485del	(Likely) benign	1 lab	19d29e1d8c
9:100843294 NANS G>A	9	100843294	100843294	G	A	NANS	c.800G>A	NM_018946.4	NP_061819.2:p.(Arg267His)	NC_000009.11:g.100843294G>A	VUS	1 lab	0ad16cc1cf
8:48866483 PRKDC A>T	8	48866483	48866483	A	T	PRKDC	c.509-4T>A	NM_006904.6	NP_008835.5:p.?	NC_000008.10:g.48866483A>T	(Likely) benign	1 lab	1a516e0504
13:101844299 NALCN T>C	13	101844299	101844299	T	C	NALCN	c.1733A>G	NM_052867.4	NP_443099.1:p.(Tyr578Cys)	NC_000013.10:g.101844299T>C	(Likely) pathogenic	1 lab	19d674d0f5
10:61832873 ANK3 G>A	10	61832873	61832873	G	A	ANK3	c.7766C>T	NM_020987.5	NP_066267.2:p.(Thr2589Ile)	NC_000010.10:g.61832873G>A	VUS	1 lab	0ad25d2bab
5:127730866 FBN2 G>A	5	127730866	127730866	G	A	FBN2	c.1180C>T	NM_001999.4	NP_001990.2:p.(Arg394Cys)	NC_000005.9:g.127730866G>A	VUS	1 lab	0ad2979801
1:43894109 SZT2 AGGAGGGTGCTGAACCTCG>A	1	43894109	43894130	AGGAGGGTGCTGAACCTCG	A	SZT2	c.4122_4139del	NM_001365999.1	NP_001352928.1:p.(Gly1375_Glu1380del)	NC_000001.10:g.43894113_43894130del	VUS	1 lab	0ad2f54b7c
11:47463227 RAPSN A>G	11	47463227	47463227	A	G	RAPSN	c.848T>C	NM_005055.5	NP_005046.2:p.(Leu283Pro)	NC_000011.9:g.47463227A>G	(Likely) pathogenic	1 lab	0ad36887d9
16:88871222 CDT1 C>T	16	88871222	88871222	C	T	CDT1	c.404C>T	NM_030928.4	NP_112190.2:p.(Ala135Val)	NC_000016.9:g.88871222C>T	(Likely) benign	1 lab	0ad3ebc9f6
5:78280923 ARSB A>C	5	78280923	78280923	A	C	ARSB	c.149T>G	NM_000046.5	NP_000037.2:p.(Leu50Trp)	NC_000005.9:g.78280923A>C	VUS	1 lab	0ad3ef462a
X:8553425 ANOS1 G>A	X	8553425	8553425	G	A	ANOS1	c.739C>T	NM_000216.4	NP_000207.2:p.(Arg247Ter)	NC_000023.10:g.8553425G>A	(Likely) pathogenic	1 lab	1a53f797cd
22:18609704 TUBA8 G>A	22	18609704	18609704	G	A	TUBA8	c.959G>A	NM_018943.3	NP_061816.1:p.(Arg320Gln)	NC_000022.10:g.18609704G>A	(Likely) benign	1 lab	0ad5749b4d
17:60601612 TLK2 G>A	17	60601612	60601612	G	A	TLK2	c.283G>A	NM_006852.6	NP_006843.2:p.(Ala95Thr)	NC_000017.10:g.60601612G>A	(Likely) benign	1 lab	0ad57d0058
17:44127989 KANSL1 T>G	17	44127989	44127989	T	G	KANSL1	c.1930A>C	NM_015443.4	NP_056258.1:p.(Met644Leu)	NC_000017.10:g.44127989T>G	(Likely) benign	1 lab	0ad5809d20
22:28194933 MN1 T>TGTTGC	22	28194933	28194934	T	TGTTGC	MN1	c.1598_1599insGCAAC	NM_002430.3	NP_002421.3:p.(Gln535HisfsTer25)	NC_000022.10:g.28194933_28194934insGTTGC	VUS	1 lab	0ad6661a5e
17:10558285 MYH3 C>G	17	10558285	10558285	C	G	MYH3	c.97G>C	NM_002470.4	NP_002461.2:p.(Asp33His)	NC_000017.10:g.10558285C>G	VUS	1 lab	0ad9338399
3:142285059 ATR C>T	3	142285059	142285059	C	T	ATR	c.196G>A	NM_001184.4	NP_001175.2:p.(Val66Met)	NC_000003.11:g.142285059C>T	(Likely) benign	1 lab	0ada5dbb27
21:45713024 AIRE A>G	21	45713024	45713024	A	G	AIRE	c.1244A>G	NM_000383.4	NP_000374.1:p.(His415Arg)	NC_000021.8:g.45713024A>G	(Likely) benign	1 lab	0ada83b932
16:28354319 NPIPB6 A>G	16	28354319	28354319	A	G	NPIPB6	c.887T>C	NM_001395275.1	NP_001382204.1:p.(Val296Ala)	NC_000016.9:g.28354319A>G	VUS	1 lab	0adaa21b24
8:37688963 ADGRA2 G>A	8	37688963	37688963	G	A	ADGRA2	c.955G>A	NM_032777.10	NP_116166.9:p.(Gly319Ser)	NC_000008.10:g.37688963G>A	(Likely) benign	1 lab	0adac826ad
7:55467773 LANCL2 C>T	7	55467773	55467773	C	T	LANCL2	c.654C>T	NM_018697.4	NP_061167.1:p.(Thr218=)	NC_000007.13:g.55467773C>T	VUS	1 lab	0adc5cd8ee
21:46012364 TSPEAR A>G	21	46012364	46012364	A	G	TSPEAR	c.83-24475T>C	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46012364A>G	VUS	1 lab	0adf1c8ddb
7:72864021 BAZ1B T>G	7	72864021	72864021	T	G	BAZ1B	c.3581-2A>C	NM_032408.4	NP_115784.1:p.?	NC_000007.13:g.72864021T>G	VUS	1 lab	0ae0c1d86a
9:133266749 HMCN2 C>T	9	133266749	133266749	C	T	HMCN2	c.9826C>T	NM_001291815.2	NP_001278744.1:p.(Arg3276Trp)	NC_000009.11:g.133266749C>T	VUS	1 lab	0ae262a41c
4:6303205 WFS1 C>T	4	6303205	6303205	C	T	WFS1	c.1683C>T	NM_006005.3	NP_005996.2:p.(Ile561=)	NC_000004.11:g.6303205C>T	(Likely) benign	1 lab	0ae427bfee
15:51529110 CYP19A1 T>C	15	51529110	51529110	T	C	CYP19A1	c.242A>G	NM_000103.4	NP_000094.2:p.(Tyr81Cys)	NC_000015.9:g.51529110T>C	(Likely) pathogenic	1 lab	0ae45f1fb4
19:42879826 MEGF8 C>T	19	42879826	42879826	C	T	MEGF8	c.7437C>T	NM_001271938.2	NP_001258867.1:p.(Gly2479=)	NC_000019.9:g.42879826C>T	(Likely) benign	1 lab	0ae5268ebf
2:219922365 IHH G>A	2	219922365	219922365	G	A	IHH	c.367C>T	NM_002181.4	NP_002172.2:p.(Pro123Ser)	NC_000002.11:g.219922365G>A	VUS	1 lab	0ae6e4f386
1:978628 AGRN C>T	1	978628	978628	C	T	AGRN	c.1394C>T	NM_198576.4	NP_940978.2:p.(Pro465Leu)	NC_000001.10:g.978628C>T	(Likely) benign	1 lab	19e5c9eaf3
15:100802568 ADAMTS17 G>A	15	100802568	100802568	G	A	ADAMTS17	c.862C>T	NM_139057.4	NP_620688.2:p.(Arg288Ter)	NC_000015.9:g.100802568G>A	(Likely) pathogenic	1 lab	0aeb3f555c
1:247012949 AHCTF1 G>C	1	247012949	247012949	G	C	AHCTF1	c.6359C>G	NM_001323342.2	NP_001310271.1:p.(Ser2120Cys)	NC_000001.10:g.247012949G>C	VUS	1 lab	0aec2667d6
2:62067696 FAM161A G>A	2	62067696	62067696	G	A	FAM161A	c.443C>T	NM_001201543.2	NP_001188472.1:p.(Ser148Phe)	NC_000002.11:g.62067696G>A	(Likely) benign	1 lab	0aeca5d436
3:58127623 FLNB G>A	3	58127623	58127623	G	A	FLNB	c.5148G>A	NM_001457.4	NP_001448.2:p.(Pro1716=)	NC_000003.11:g.58127623G>A	(Likely) benign	1 lab	0aecb9b577
6:42974286 PPP2R5D C>T	6	42974286	42974286	C	T	PPP2R5D	c.191C>T	NM_006245.4	NP_006236.1:p.(Pro64Leu)	NC_000006.11:g.42974286C>T	VUS	1 lab	0aedd5e8b8
X:119293039 RHOXF2 AGGCGGAGAAGAAAAAGATGGC>A	X	119293039	119293086	AGGCGGAGAAGAAAAAGATGGC	A	RHOXF2	c.225_245del	NM_032498.3	NP_115887.1:p.(Glu76_Gly82del)	NC_000023.10:g.119293066_119293086del	VUS	1 lab	0aefa2eb34
18:24039799 KCTD1 C>G	18	24039799	24039799	C	G	KCTD1	c.2224G>C	NM_001142730.3	NP_001136202.1:p.(Gly742Arg)	NC_000018.9:g.24039799C>G	(Likely) benign	1 lab	0af01dc13b
1:22179519 HSPG2 G>A	1	22179519	22179519	G	A	HSPG2	c.6484C>T	NM_005529.7	NP_005520.4:p.(His2162Tyr)	NC_000001.10:g.22179519G>A	(Likely) benign	1 lab	0af05bf6e2
4:79237027 FRAS1 T>C	4	79237027	79237027	T	C	FRAS1	c.1819+139T>C	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79237027T>C	(Likely) benign	1 lab	e87e85272f
1:40627127 RLF C>T	1	40627127	40627127	C	T	RLF	c.56C>T	NM_012421.4	NP_036553.2:p.(Pro19Leu)	NC_000001.10:g.40627127C>T	(Likely) benign	1 lab	0af1f1dad2
19:39070731 RYR1 G>A	19	39070731	39070731	G	A	RYR1	c.14474G>A	NM_000540.3	NP_000531.2:p.(Arg4825His)	NC_000019.9:g.39070731G>A	VUS	1 lab	0af2a048a9
4:74453635 RASSF6 C>T	4	74453635	74453635	C	T	RASSF6	c.304G>A	NM_177532.5	NP_803876.1:p.(Glu102Lys)	NC_000004.11:g.74453635C>T	VUS	1 lab	0af358296b
3:184071958 CLCN2 G>T	3	184071958	184071958	G	T	CLCN2	c.1652C>A	NM_004366.6	NP_004357.3:p.(Ser551Tyr)	NC_000003.11:g.184071958G>T	VUS	1 lab	0af411893c
10:76735758 KAT6B G>A	10	76735758	76735758	G	A	KAT6B	c.1663G>A	NM_012330.4	NP_036462.2:p.(Gly555Arg)	NC_000010.10:g.76735758G>A	(Likely) benign	1 lab	0af446cf0d
5:45695922 HCN1 C>G	5	45695922	45695922	C	G	HCN1	c.274G>C	NM_021072.4	NP_066550.2:p.(Gly92Arg)	NC_000005.9:g.45695922C>G	VUS	1 lab	0af5897595
7:44265708 CAMK2B C>G	7	44265708	44265708	C	G	CAMK2B	c.1597+407G>C	NM_001220.5	NP_001211.3:p.?	NC_000007.13:g.44265708C>G	(Likely) benign	1 lab	0af6a40011
18:44561007 KATNAL2 C>T	18	44561007	44561007	C	T	KATNAL2	c.52-11821C>T	NM_001387690.1	NP_001374619.1:p.?	NC_000018.9:g.44561007C>T	(Likely) benign	1 lab	0af748f45e
Y:21883161 KDM5D G>C	Y	21883161	21883161	G	C	KDM5D	c.1408C>G	NM_004653.5	NP_004644.2:p.(Pro470Ala)	NC_000024.9:g.21883161G>C	VUS	1 lab	2c8dba3217
17:48277140 COL1A1 C>T	17	48277140	48277140	C	T	COL1A1	c.272G>A	NM_000088.4	NP_000079.2:p.(Cys91Tyr)	NC_000017.10:g.48277140C>T	(Likely) pathogenic	1 lab	0af9326b71
17:48276924 COL1A1 C>T	17	48276924	48276924	C	T	COL1A1	c.326G>A	NM_000088.4	NP_000079.2:p.(Gly109Asp)	NC_000017.10:g.48276924C>T	VUS	1 lab	0afa505844
2:74314947 TET3 G>A	2	74314947	74314947	G	A	TET3	c.2680-10G>A	NM_001287491.2	NP_001274420.1:p.?	NC_000002.11:g.74314947G>A	(Likely) benign	1 lab	0afa73448f
19:42558584 GRIK5 A>G	19	42558584	42558584	A	G	GRIK5	c.944T>C	NM_002088.5	NP_002079.3:p.(Val315Ala)	NC_000019.9:g.42558584A>G	VUS	1 lab	0afba39114
5:42711375 GHR C>T	5	42711375	42711375	C	T	GHR	c.685C>T	NM_000163.5	NP_000154.1:p.(Arg229Cys)	NC_000005.9:g.42711375C>T	(Likely) pathogenic	1 lab	0afc9542b6
18:21134929 NPC1 G>A	18	21134929	21134929	G	A	NPC1	c.1346C>T	NM_000271.5	NP_000262.2:p.(Ala449Val)	NC_000018.9:g.21134929G>A	(Likely) benign	1 lab	0afc992097
2:236761370 AGAP1 A>G	2	236761370	236761370	A	G	AGAP1	c.1051-30619A>G	NM_001037131.3	NP_001032208.1:p.?	NC_000002.11:g.236761370A>G	VUS	1 lab	0afd13dc42
6:170594103 DLL1 G>C	6	170594103	170594103	G	C	DLL1	c.1153C>G	NM_005618.4	NP_005609.3:p.(Pro385Ala)	NC_000006.11:g.170594103G>C	VUS	1 lab	0afe920873
2:29006380 PPP1CB T>C	2	29006380	29006380	T	C	PPP1CB	c.521-393T>C	NM_002709.3	NP_002700.1:p.?	NC_000002.11:g.29006380T>C	(Likely) benign	1 lab	0b0042b728
1:2338361 PEX10 T>C	1	2338361	2338361	T	C	PEX10	c.601-27A>G	NM_002617.4	NP_002608.1:p.?	NC_000001.10:g.2338361T>C	(Likely) benign	1 lab	0b007375b2
17:35470204 ACACA T>C	17	35470204	35470204	T	C	ACACA	c.6275-4A>G	NM_198834.3	NP_942131.1:p.?	NC_000017.10:g.35470204T>C	(Likely) benign	1 lab	0b029f2dcd
19:13409548 CACNA1A C>T	19	13409548	13409548	C	T	CACNA1A	c.2899G>A	NM_001127222.2	NP_001120694.1:p.(Glu967Lys)	NC_000019.9:g.13409548C>T	VUS	1 lab	0b02fc6a76
2:200269810 SATB2 G>C	2	200269810	200269810	G	C	SATB2	c.347-23267C>G	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200269810G>C	(Likely) benign	1 lab	0b049497d9
2:16082163 MYCN A>T	2	16082163	16082163	A	T	MYCN	c.-24A>T	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16082163A>T	(Likely) benign	1 lab	0b04951ed7
16:19711792 VPS35L G>C	16	19711792	19711792	G	C	VPS35L	c.2886G>C	NM_020314.7	NP_064710.5:p.(Arg962Ser)	NC_000016.9:g.19711792G>C	(Likely) benign	1 lab	0b04d19cbe
2:222307707 EPHA4 C>T	2	222307707	222307707	C	T	EPHA4	c.1916G>A	NM_004438.5	NP_004429.1:p.(Arg639His)	NC_000002.11:g.222307707C>T	VUS	1 lab	0b05ce1315
14:36018427 RALGAPA1 C>T	14	36018427	36018427	C	T	RALGAPA1	c.7510G>A	NM_001346249.2	NP_001333178.1:p.(Ala2504Thr)	NC_000014.8:g.36018427C>T	VUS	1 lab	0b0685a827
1:24194710 FUCA1 C>G	1	24194710	24194710	C	G	FUCA1	c.67G>C	NM_000147.5	NP_000138.2:p.(Gly23Arg)	NC_000001.10:g.24194710C>G	(Likely) benign	1 lab	0b0718aaae
5:42424719 GHR G>A	5	42424719	42424719	G	A	GHR	c.-12+662G>A	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42424719G>A	(Likely) benign	1 lab	0b08964d75
8:6378939 ANGPT2 G>A	8	6378939	6378939	G	A	ANGPT2	c.567-8C>T	NM_001118887.2	NP_001112359.1:p.?	NC_000008.10:g.6378939G>A	VUS	1 lab	0b0902623b
5:122495302 PRDM6 C>T	5	122495302	122495302	C	T	PRDM6	c.1123C>T	NM_001136239.4	NP_001129711.1:p.(Pro375Ser)	NC_000005.9:g.122495302C>T	VUS	1 lab	0b0cbadbc8
14:36157824 RALGAPA1 G>A	14	36157824	36157824	G	A	RALGAPA1	c.3793C>T	NM_001346249.2	NP_001333178.1:p.(Gln1265Ter)	NC_000014.8:g.36157824G>A	VUS	1 lab	0b0d6e3558
9:95841846 SUSD3 C>T	9	95841846	95841846	C	T	SUSD3	c.519C>T	NM_145006.4	NP_659443.1:p.(Ser173=)	NC_000009.11:g.95841846C>T	(Likely) benign	1 lab	0b0d973ebf
4:151789439 LRBA G>A	4	151789439	151789439	G	A	LRBA	c.2468C>T	NM_001364905.1	NP_001351834.1:p.(Ala823Val)	NC_000004.11:g.151789439G>A	(Likely) benign	1 lab	0b0da891e9
14:75568358 NEK9 A>G	14	75568358	75568358	A	G	NEK9	c.1840+2T>C	NM_033116.6	NP_149107.4:p.?	NC_000014.8:g.75568358A>G	VUS	1 lab	0b0f2d7a1d
6:157488320 ARID1B G>A	6	157488320	157488320	G	A	ARID1B	c.3235+1G>A	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157488320G>A	(Likely) pathogenic	1 lab	0b141d7098
11:118352718 KMT2A A>G	11	118352718	118352718	A	G	KMT2A	c.3923A>G	NM_001197104.2	NP_001184033.1:p.(Gln1308Arg)	NC_000011.9:g.118352718A>G	(Likely) benign	1 lab	0b15a033a0
1:201177733 IGFN1 G>A	1	201177733	201177733	G	A	IGFN1	c.3712G>A	NM_001164586.2	NP_001158058.1:p.(Gly1238Ser)	NC_000001.10:g.201177733G>A	VUS	1 lab	0b17b242da
15:89864968 POLG C>T	15	89864968	89864968	C	T	POLG	c.2597G>A	NM_002693.3	NP_002684.1:p.(Arg866Gln)	NC_000015.9:g.89864968C>T	(Likely) benign	1 lab	0b18e0c488
16:30099870 TBX6 TAC>T	16	30099870	30099873	TAC	T	TBX6	c.833_834del	NM_004608.4	NP_004599.2:p.(Cys278Ter)	NC_000016.9:g.30099872_30099873del	(Likely) pathogenic	1 lab	0b1a466168
1:201282357 PKP1 G>A	1	201282357	201282357	G	A	PKP1	c.370G>A	NM_001005337.3	NP_001005337.1:p.(Glu124Lys)	NC_000001.10:g.201282357G>A	(Likely) benign	1 lab	0b1b2e8660
5:147488366 SPINK5 T>C	5	147488366	147488366	T	C	SPINK5	c.1658T>C	NM_006846.4	NP_006837.2:p.(Val553Ala)	NC_000005.9:g.147488366T>C	VUS	1 lab	0b1bc56dc2
16:23652466 PALB2 G>T	16	23652466	23652466	G	T	PALB2	c.13C>A	NM_024675.4	NP_078951.2:p.(Pro5Thr)	NC_000016.9:g.23652466G>T	(Likely) benign	1 lab	0b1c3478b5
16:14029352 ERCC4 C>G	16	14029352	14029352	C	G	ERCC4	c.1563C>G	NM_005236.2	NP_005227.1:p.(Ser521Arg)	NC_000016.9:g.14029352C>G	(Likely) benign	1 lab	1a589b34bf
3:48602285 COL7A1 T>C	3	48602285	48602285	T	C	COL7A1	c.8749A>G	NM_000094.4	NP_000085.1:p.(Asn2917Asp)	NC_000003.11:g.48602285T>C	VUS	1 lab	19e989199b
5:41038852 MROH2B C>T	5	41038852	41038852	C	T	MROH2B	c.2200G>A	NM_173489.5	NP_775760.3:p.(Gly734Ser)	NC_000005.9:g.41038852C>T	(Likely) benign	1 lab	0b1dd91497
X:73963908 NEXMIF C>G	X	73963908	73963908	C	G	NEXMIF	c.484G>C	NM_001008537.3	NP_001008537.1:p.(Gly162Arg)	NC_000023.10:g.73963908C>G	VUS	1 lab	0b1e447a45
3:49148270 USP19 C>T	3	49148270	49148270	C	T	USP19	c.3572G>A	NM_001199161.2	NP_001186090.1:p.(Arg1191His)	NC_000003.11:g.49148270C>T	VUS	1 lab	0b1e58c0c1
12:109637304 ACACB A>G	12	109637304	109637304	A	G	ACACB	c.2725A>G	NM_001093.4	NP_001084.3:p.(Thr909Ala)	NC_000012.11:g.109637304A>G	VUS	1 lab	0b1f9e4044
17:33430277 RAD51D A>G	17	33430277	33430277	A	G	RAD51D	c.734T>C	NM_002878.4	NP_002869.3:p.(Val245Ala)	NC_000017.10:g.33430277A>G	VUS	1 lab	0b20670e00
18:55282893 NARS1 T>C	18	55282893	55282893	T	C	NARS1	c.322A>G	NM_004539.4	NP_004530.1:p.(Ser108Gly)	NC_000018.9:g.55282893T>C	VUS	1 lab	0b20a3e4cd
4:3076603 HTT C>CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	4	3076603	3076662	C	CCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	HTT	c.72_110dup	NM_001388492.1	NP_001375421.1:p.(Gln26_Gln38dup)	NC_000004.11:g.3076624_3076662dup	VUS	1 lab	0b214e76be
16:88907509 GALNS G>A	16	88907509	88907509	G	A	GALNS	c.320-7C>T	NM_000512.5	NP_000503.1:p.?	NC_000016.9:g.88907509G>A	VUS	1 lab	0b25c70333
16:2143581 PKD1 T>C	16	2143581	2143581	T	C	PKD1	c.10980A>G	NM_001009944.3	NP_001009944.3:p.(Glu3660=)	NC_000016.9:g.2143581T>C	(Likely) benign	1 lab	0b2828db3f
6:117240313 RFX6 A>G	6	117240313	117240313	A	G	RFX6	c.1036A>G	NM_173560.4	NP_775831.2:p.(Ile346Val)	NC_000006.11:g.117240313A>G	VUS	1 lab	0b2ae33b67
18:53018165 TCF4 G>A	18	53018165	53018165	G	A	TCF4	c.439C>T	NM_001083962.2	NP_001077431.1:p.(Gln147Ter)	NC_000018.9:g.53018165G>A	(Likely) pathogenic	1 lab	0b2bbb300c
21:22746258 NCAM2 G>C	21	22746258	22746258	G	C	NCAM2	c.1120G>C	NM_004540.5	NP_004531.2:p.(Asp374His)	NC_000021.8:g.22746258G>C	VUS	1 lab	0b2d8ede15
X:23723956 ACOT9 G>A	X	23723956	23723956	G	A	ACOT9	c.862C>T	NM_001037171.2	NP_001032248.1:p.(Arg288Ter)	NC_000023.10:g.23723956G>A	VUS	1 lab	0b2ddea4c2
11:2683210 KCNQ1 G>A	11	2683210	2683210	G	A	KCNQ1	c.1413G>A	NM_000218.3	NP_000209.2:p.(Leu471=)	NC_000011.9:g.2683210G>A	(Likely) pathogenic	1 lab	0b2e9d18fb
22:19882660 TXNRD2 T>G	22	19882660	19882660	T	G	TXNRD2	c.1013A>C	NM_001282512.3	NP_001269441.1:p.(Asp338Ala)	NC_000022.10:g.19882660T>G	VUS	1 lab	19ec2805ac
11:76892622 MYO7A C>G	11	76892622	76892622	C	G	MYO7A	c.2891C>G	NM_000260.4	NP_000251.3:p.(Pro964Arg)	NC_000011.9:g.76892622C>G	VUS	1 lab	0b2f4338ff
16:23404548 COG7 G>A	16	23404548	23404548	G	A	COG7	c.2002+6C>T	NM_153603.4	NP_705831.1:p.?	NC_000016.9:g.23404548G>A	(Likely) benign	1 lab	0b2fae8520
2:230675724 TRIP12 G>A	2	230675724	230675724	G	A	TRIP12	c.2093C>T	NM_001348323.3	NP_001335252.1:p.(Thr698Ile)	NC_000002.11:g.230675724G>A	(Likely) benign	1 lab	0b30f9d6de
X:54953037 TRO G>A	X	54953037	54953037	G	A	TRO	c.1679G>A	NM_001039705.3	NP_001034794.1:p.(Arg560His)	NC_000023.10:g.54953037G>A	VUS	1 lab	0b316aea89
2:170338811 BBS5 T>C	2	170338811	170338811	T	C	BBS5	c.110T>C	NM_152384.3	NP_689597.1:p.(Ile37Thr)	NC_000002.11:g.170338811T>C	VUS	1 lab	0b32570d1d
2:73680238 ALMS1 A>C	2	73680238	73680238	A	C	ALMS1	c.6584A>C	NM_001378454.1	NP_001365383.1:p.(His2195Pro)	NC_000002.11:g.73680238A>C	VUS	1 lab	0b3367c2d8
2:179403367 TTN C>A	2	179403367	179403367	C	A	TTN	c.99189G>T	NM_001267550.2	NP_001254479.2:p.(Leu33063Phe)	NC_000002.11:g.179403367C>A	VUS	1 lab	0b37b5dc81
7:100320627 EPO G>A	7	100320627	100320627	G	A	EPO	c.453G>A	NM_000799.4	NP_000790.2:p.(Ala151=)	NC_000007.13:g.100320627G>A	(Likely) benign	1 lab	0b37d28362
11:64893274 MRPL49 C>G	11	64893274	64893274	C	G	MRPL49	c.431C>G	NM_004927.4	NP_004918.1:p.(Thr144Arg)	NC_000011.9:g.64893274C>G	VUS	1 lab	0b38a854d6
10:50964941 OGDHL C>G	10	50964941	50964941	C	G	OGDHL	c.256G>C	NM_018245.3	NP_060715.2:p.(Ala86Pro)	NC_000010.10:g.50964941C>G	(Likely) benign	1 lab	0b38da59aa
21:47845836 PCNT G>A	21	47845836	47845836	G	A	PCNT	c.7271G>A	NM_006031.6	NP_006022.3:p.(Arg2424Gln)	NC_000021.8:g.47845836G>A	(Likely) benign	1 lab	0b399b1246
1:22202856 HSPG2 T>G	1	22202856	22202856	T	G	HSPG2	c.2869A>C	NM_005529.7	NP_005520.4:p.(Asn957His)	NC_000001.10:g.22202856T>G	(Likely) benign	1 lab	0b39d7bce0
16:27772892 KATNIP G>A	16	27772892	27772892	G	A	KATNIP	c.3790G>A	NM_015202.5	NP_056017.4:p.(Asp1264Asn)	NC_000016.9:g.27772892G>A	VUS	1 lab	0b3e3d89a8
22:45937198 FBLN1 G>A	22	45937198	45937198	G	A	FBLN1	c.1012G>A	NM_006486.3	NP_006477.3:p.(Val338Met)	NC_000022.10:g.45937198G>A	(Likely) benign	1 lab	0b3f4bb617
4:85600398 WDFY3 G>C	4	85600398	85600398	G	C	WDFY3	c.9824-3C>G	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85600398G>C	(Likely) pathogenic	1 lab	19ecbea5e6
4:1232113 CTBP1 G>T	4	1232113	1232113	G	T	CTBP1	c.20C>A	NM_001012614.2	NP_001012632.1:p.(Pro7Gln)	NC_000004.11:g.1232113G>T	VUS	1 lab	0b43b9a879
3:38770362 SCN10A G>C	3	38770362	38770362	G	C	SCN10A	c.2311C>G	NM_006514.4	NP_006505.4:p.(Pro771Ala)	NC_000003.11:g.38770362G>C	VUS	1 lab	0b44525d10
15:23889412 MAGEL2 C>T	15	23889412	23889412	C	T	MAGEL2	c.3478G>A	NM_019066.5	NP_061939.3:p.(Val1160Met)	NC_000015.9:g.23889412C>T	VUS	1 lab	0b4565ed99
X:151900650 MAGEA12 G>C	X	151900650	151900650	G	C	MAGEA12	c.151C>G	NM_001166387.4	NP_001159859.1:p.(Arg51Gly)	NC_000023.10:g.151900650G>C	(Likely) benign	1 lab	0b49f1b522
1:8421103 RERE GCGA>G	1	8421103	8421106	GCGA	G	RERE	c.2461_2463del	NM_001042681.2	NP_001036146.1:p.(Ser821del)	NC_000001.10:g.8421104_8421106del	(Likely) benign	1 lab	0b4c97448e
16:2157948 PKD1 ACGCCAGC>A	16	2157948	2157965	ACGCCAGC	A	PKD1	c.6994_7000del	NM_001009944.3	NP_001009944.3:p.(Ala2332TrpfsTer7)	NC_000016.9:g.2157959_2157965del	(Likely) pathogenic	1 lab	0b4cc4c6c2
X:153592536 FLNA G>A	X	153592536	153592536	G	A	FLNA	c.2137-3C>T	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153592536G>A	(Likely) benign	1 lab	0b4cda20db
14:73614806 PSEN1 C>T	14	73614806	73614806	C	T	PSEN1	c.79C>T	NM_000021.4	NP_000012.1:p.(Arg27Cys)	NC_000014.8:g.73614806C>T	VUS	1 lab	0b4d045a35
15:75654678 MAN2C1 A>C	15	75654678	75654678	A	C	MAN2C1	c.1008+6T>G	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75654678A>C	VUS	1 lab	0b4f4d0c57
16:2156129 PKD1 G>A	16	2156129	2156129	G	A	PKD1	c.7666C>T	NM_001009944.3	NP_001009944.3:p.(Gln2556Ter)	NC_000016.9:g.2156129G>A	(Likely) pathogenic	1 lab	0b50c49440
X:41555359 GPR34 G>C	X	41555359	41555359	G	C	GPR34	c.473G>C	NM_001097579.2	NP_001091048.1:p.(Arg158Pro)	NC_000023.10:g.41555359G>C	(Likely) benign	1 lab	0b5263c5b4
15:52442128 GNB5 G>A	15	52442128	52442128	G	A	GNB5	c.376-6C>T	NM_016194.4	NP_057278.2:p.?	NC_000015.9:g.52442128G>A	(Likely) benign	1 lab	0b52754632
11:22261106 ANO5 T>C	11	22261106	22261106	T	C	ANO5	c.763-9T>C	NM_213599.3	NP_998764.1:p.?	NC_000011.9:g.22261106T>C	(Likely) benign	1 lab	0b53789957
1:29609328 PTPRU C>T	1	29609328	29609328	C	T	PTPRU	c.2009C>T	NM_133178.4	NP_573439.2:p.(Ala670Val)	NC_000001.10:g.29609328C>T	VUS	1 lab	0b555a5c8d
6:30652946 PPP1R18 C>G	6	30652946	30652946	C	G	PPP1R18	c.850G>C	NM_133471.4	NP_597728.1:p.(Val284Leu)	NC_000006.11:g.30652946C>G	VUS	1 lab	0b583b0c78
8:106646568 ZFPM2 G>GC	8	106646568	106646569	G	GC	ZFPM2	c.516dup	NM_012082.4	NP_036214.2:p.(Ile173HisfsTer19)	NC_000008.10:g.106646569dup	VUS	1 lab	0b58ef5ae6
4:141677071 TBC1D9 C>T	4	141677071	141677071	C	T	TBC1D9	c.129G>A	NM_015130.3	NP_055945.2:p.(Ala43=)	NC_000004.11:g.141677071C>T	(Likely) benign	1 lab	0b5a2e646c
15:50881789 TRPM7 G>A	15	50881789	50881789	G	A	TRPM7	c.4389C>T	NM_017672.6	NP_060142.3:p.(Ser1463=)	NC_000015.9:g.50881789G>A	(Likely) benign	1 lab	0b5a370074
4:73149167 ADAMTS3 A>T	4	73149167	73149167	A	T	ADAMTS3	c.3304T>A	NM_014243.3	NP_055058.2:p.(Ser1102Thr)	NC_000004.11:g.73149167A>T	(Likely) benign	1 lab	0b5c9e92fa
12:69083373 NUP107 G>A	12	69083373	69083373	G	A	NUP107	c.161G>A	NM_020401.4	NP_065134.1:p.(Arg54Gln)	NC_000012.11:g.69083373G>A	VUS	1 lab	0b5e769171
16:2079716 NHERF2 A>C	16	2079716	2079716	A	C	NHERF2	c.347A>C	NM_001130012.3	NP_001123484.1:p.(His116Pro)	NC_000016.9:g.2079716A>C	(Likely) benign	1 lab	0b60ff20ca
12:49364230 WNT10B A>T	12	49364230	49364230	A	T	WNT10B	c.74+9T>A	NM_003394.4	NP_003385.2:p.?	NC_000012.11:g.49364230A>T	(Likely) benign	1 lab	0b62bea426
15:59429565 MYO1E G>C	15	59429565	59429565	G	C	MYO1E	c.*14C>G	NM_004998.3	NP_004989.2:p.?	NC_000015.9:g.59429565G>C	(Likely) benign	1 lab	ecb2d3414c
5:34007971 AMACR A>G	5	34007971	34007971	A	G	AMACR	c.154T>C	NM_014324.6	NP_055139.4:p.(Ser52Pro)	NC_000005.9:g.34007971A>G	(Likely) pathogenic	1 lab	0b63f62d5c
2:179596871 TTN C>T	2	179596871	179596871	C	T	TTN	c.16825G>A	NM_001267550.2	NP_001254479.2:p.(Glu5609Lys)	NC_000002.11:g.179596871C>T	VUS	1 lab	0b64c3dff1
22:21345975 LZTR1 C>T	22	21345975	21345975	C	T	LZTR1	c.850C>T	NM_006767.4	NP_006758.2:p.(Arg284Cys)	NC_000022.10:g.21345975C>T	(Likely) pathogenic	1 lab	0b650d74a5
15:33855072 RYR3 G>A	15	33855072	33855072	G	A	RYR3	c.1007G>A	NM_001036.6	NP_001027.3:p.(Arg336Gln)	NC_000015.9:g.33855072G>A	VUS	1 lab	0b6627a20f
14:51233065 NIN C>A	14	51233065	51233065	C	A	NIN	c.1595G>T	NM_020921.4	NP_065972.4:p.(Arg532Ile)	NC_000014.8:g.51233065C>A	VUS	1 lab	0b769efc3b
3:176769368 TBL1XR1 TGCAGCTGCGGCAGCTGCA>T	3	176769368	176769394	TGCAGCTGCGGCAGCTGCA	T	TBL1XR1	c.333_350del	NM_024665.7	NP_078941.2:p.(Ala113_Ala118del)	NC_000003.11:g.176769377_176769394del	VUS	1 lab	0b66dfb525
5:14508112 TRIO G>A	5	14508112	14508112	G	A	TRIO	c.8875G>A	NM_007118.4	NP_009049.2:p.(Ala2959Thr)	NC_000005.9:g.14508112G>A	(Likely) benign	1 lab	0b6712c482
3:183963498 ALG3 C>A	3	183963498	183963498	C	A	ALG3	c.296+3G>T	NM_005787.6	NP_005778.1:p.?	NC_000003.11:g.183963498C>A	VUS	1 lab	0b672adef5
18:44101112 LOXHD1 G>T	18	44101112	44101112	G	T	LOXHD1	c.5219C>A	NM_001384474.1	NP_001371403.1:p.(Thr1740Asn)	NC_000018.9:g.44101112G>T	VUS	1 lab	0b6952fe6b
13:25480503 CPAP T>G	13	25480503	25480503	T	G	CPAP	c.1673A>C	NM_018451.5	NP_060921.3:p.(Gln558Pro)	NC_000013.10:g.25480503T>G	VUS	1 lab	0b6bc5356e
9:140711899 EHMT1 T>C	9	140711899	140711899	T	C	EHMT1	c.3383T>C	NM_024757.5	NP_079033.4:p.(Leu1128Pro)	NC_000009.11:g.140711899T>C	VUS	1 lab	0b6d16a37e
1:45218863 KIF2C G>A	1	45218863	45218863	G	A	KIF2C	c.499G>A	NM_006845.4	NP_006836.2:p.(Glu167Lys)	NC_000001.10:g.45218863G>A	VUS	1 lab	2d338add21
14:20847144 TEP1 A>G	14	20847144	20847144	A	G	TEP1	c.5248T>C	NM_007110.5	NP_009041.2:p.(Cys1750Arg)	NC_000014.8:g.20847144A>G	(Likely) benign	1 lab	0b702589e7
19:38980896 RYR1 C>T	19	38980896	38980896	C	T	RYR1	c.5995C>T	NM_000540.3	NP_000531.2:p.(Arg1999Cys)	NC_000019.9:g.38980896C>T	(Likely) pathogenic	1 lab	0b710091e1
11:118344387 KMT2A G>C	11	118344387	118344387	G	C	KMT2A	c.2513G>C	NM_001197104.2	NP_001184033.1:p.(Trp838Ser)	NC_000011.9:g.118344387G>C	(Likely) benign	1 lab	0b716cbdad
1:158604391 SPTA1 T>C	1	158604391	158604391	T	C	SPTA1	c.5507A>G	NM_003126.3	NP_003117.2:p.(Asn1836Ser)	NC_000001.10:g.158604391T>C	(Likely) benign	1 lab	1a59f752d2
12:6690909 CHD4 C>T	12	6690909	6690909	C	T	CHD4	c.4587G>A	NM_001273.5	NP_001264.2:p.(Lys1529=)	NC_000012.11:g.6690909C>T	(Likely) benign	1 lab	0b72b13e72
19:50436015 ATF5 A>C	19	50436015	50436015	A	C	ATF5	c.515A>C	NM_001193646.2	NP_001180575.1:p.(Gln172Pro)	NC_000019.9:g.50436015A>C	(Likely) benign	1 lab	0b72c08aae
5:94957013 GPR150 G>A	5	94957013	94957013	G	A	GPR150	c.1034G>A	NM_199243.3	NP_954713.1:p.(Ser345Asn)	NC_000005.9:g.94957013G>A	VUS	1 lab	0b73ff4a64
13:52531686 ATP7B C>T	13	52531686	52531686	C	T	ATP7B	c.2413G>A	NM_000053.4	NP_000044.2:p.(Val805Ile)	NC_000013.10:g.52531686C>T	VUS	1 lab	1a5b1d48a7
8:141310560 TRAPPC9 C>T	8	141310560	141310560	C	T	TRAPPC9	c.1768+8G>A	NM_001160372.4	NP_001153844.1:p.?	NC_000008.10:g.141310560C>T	(Likely) benign	1 lab	0b7b400d1f
7:101891907 CUX1 G>A	7	101891907	101891907	G	A	CUX1	c.4103G>A	NM_181552.4	NP_853530.2:p.(Arg1368Gln)	NC_000007.13:g.101891907G>A	(Likely) benign	1 lab	0b7e61cbc2
19:15349677 BRD4 C>G	19	15349677	15349677	C	G	BRD4	c.3897G>C	NM_001379291.1	NP_001366220.1:p.(Gln1299His)	NC_000019.9:g.15349677C>G	VUS	1 lab	0b7f59758d
6:42975147 PPP2R5D T>C	6	42975147	42975147	T	C	PPP2R5D	c.634-5T>C	NM_006245.4	NP_006236.1:p.?	NC_000006.11:g.42975147T>C	(Likely) benign	1 lab	0b7ff7adae
2:216214353 ATIC C>T	2	216214353	216214353	C	T	ATIC	c.1754C>T	NM_004044.7	NP_004035.2:p.(Thr585Met)	NC_000002.11:g.216214353C>T	VUS	1 lab	0b8319fafd
X:148038102 AFF2 G>A	X	148038102	148038102	G	A	AFF2	c.2527G>A	NM_002025.4	NP_002016.2:p.(Ala843Thr)	NC_000023.10:g.148038102G>A	VUS	1 lab	0b83860b6c
X:47497567 ELK1 C>T	X	47497567	47497567	C	T	ELK1	c.669G>A	NM_001114123.3	NP_001107595.1:p.(Pro223=)	NC_000023.10:g.47497567C>T	VUS	1 lab	0b83e6a0e0
2:238253834 COL6A3 T>C	2	238253834	238253834	T	C	COL6A3	c.7115A>G	NM_004369.4	NP_004360.2:p.(Asp2372Gly)	NC_000002.11:g.238253834T>C	(Likely) benign	1 lab	0b87ce5719
2:179482597 TTN C>T	2	179482597	179482597	C	T	TTN	c.47481G>A	NM_001267550.1	NP_001254479.1:p.(Gln15827=)	NC_000002.11:g.179482597C>T	(Likely) benign	1 lab	1a5bdf6dcd
6:133833863 EYA4 G>C	6	133833863	133833863	G	C	EYA4	c.1286G>C	NM_004100.5	NP_004091.3:p.(Cys429Ser)	NC_000006.11:g.133833863G>C	VUS	1 lab	0b886f03ca
6:87968116 ZNF292 C>G	6	87968116	87968116	C	G	ZNF292	c.4769C>G	NM_015021.3	NP_055836.1:p.(Pro1590Arg)	NC_000006.11:g.87968116C>G	(Likely) benign	1 lab	0b8b1ad98c
2:189862460 COL3A1 C>T	2	189862460	189862460	C	T	COL3A1	c.1904C>T	NM_000090.3	NP_000081.1:p.(Pro635Leu)	NC_000002.11:g.189862460C>T	(Likely) pathogenic	1 lab	1a5d3cc967
3:9055209 SRGAP3 A>C	3	9055209	9055209	A	C	SRGAP3	c.1930T>G	NM_014850.4	NP_055665.1:p.(Tyr644Asp)	NC_000003.11:g.9055209A>C	VUS	1 lab	0b8ccd3ba5
2:20151192 WDR35 T>TA	2	20151192	20151194	T	TA	WDR35	c.1453dup	NM_020779.4	NP_065830.2:p.(Tyr485LeufsTer2)	NC_000002.11:g.20151194dup	VUS	1 lab	0b8cf83a58
16:9858435 GRIN2A T>C	16	9858435	9858435	T	C	GRIN2A	c.2966A>G	NM_000833.5	NP_000824.1:p.(Asn989Ser)	NC_000016.9:g.9858435T>C	VUS	1 lab	eecb5b794c
11:694895 DEAF1 G>C	11	694895	694895	G	C	DEAF1	c.153C>G	NM_021008.4	NP_066288.2:p.(Asp51Glu)	NC_000011.9:g.694895G>C	(Likely) benign	1 lab	0b8fb43657
X:18842119 PPEF1 C>T	X	18842119	18842119	C	T	PPEF1	c.1580C>T	NM_001377996.1	NP_001364925.1:p.(Ser527Leu)	NC_000023.10:g.18842119C>T	(Likely) benign	1 lab	0b8fc0ff78
11:66082251 CD248 C>G	11	66082251	66082251	C	G	CD248	c.2248G>C	NM_020404.3	NP_065137.1:p.(Val750Leu)	NC_000011.9:g.66082251C>G	(Likely) benign	1 lab	0b92508e67
1:225565048 DNAH14 T>TC	1	225565048	225565049	T	TC	DNAH14	c.12627dup	NM_001367479.1	NP_001354408.1:p.(Arg4210GlnfsTer13)	NC_000001.10:g.225565049dup	VUS	1 lab	0b94c90a26
2:179501356 TTN C>T	2	179501356	179501356	C	T	TTN	c.41098G>A	NM_001267550.2	NP_001254479.2:p.(Val13700Ile)	NC_000002.11:g.179501356C>T	(Likely) benign	1 lab	0b97c43592
16:51173488 SALL1 T>A	16	51173488	51173488	T	A	SALL1	c.2645A>T	NM_002968.3	NP_002959.2:p.(Gln882Leu)	NC_000016.9:g.51173488T>A	(Likely) benign	1 lab	0b98159309
11:60899393 VPS37C G>T	11	60899393	60899393	G	T	VPS37C	c.967C>A	NM_017966.5	NP_060436.4:p.(Gln323Lys)	NC_000011.9:g.60899393G>T	VUS	1 lab	0b985d4615
17:15983373 NCOR1 C>T	17	15983373	15983373	C	T	NCOR1	c.3406G>A	NM_006311.4	NP_006302.2:p.(Ala1136Thr)	NC_000017.10:g.15983373C>T	(Likely) benign	1 lab	0b98d80c66
3:111297959 CD96 G>A	3	111297959	111297959	G	A	CD96	c.629G>A	NM_005816.5	NP_005807.1:p.(Gly210Asp)	NC_000003.11:g.111297959G>A	(Likely) benign	1 lab	0b98fcd03f
X:106845345 FRMPD3 C>T	X	106845345	106845345	C	T	FRMPD3	c.4076C>T	NM_001388459.1	NP_001375388.1:p.(Ser1359Phe)	NC_000023.10:g.106845345C>T	VUS	1 lab	0b9bfe2ff2
7:107356130 SLC26A4 C>T	7	107356130	107356130	C	T	SLC26A4	c.*239C>T	NM_000441.2	NP_000432.1:p.?	NC_000007.13:g.107356130C>T	VUS	1 lab	0bfb071deb
8:145741217 RECQL4 C>T	8	145741217	145741217	C	T	RECQL4	c.1189G>A	NM_004260.4	NP_004251.4:p.(Val397Ile)	NC_000008.10:g.145741217C>T	(Likely) benign	1 lab	0b9c89911c
X:153296076 MECP2 G>A	X	153296076	153296076	G	A	MECP2	c.1203C>T	NM_004992.4	NP_004983.1:p.(Ser401=)	NC_000023.10:g.153296076G>A	(Likely) benign	1 lab	19efc1cb1e
12:2717688 CACNA1C G>A	12	2717688	2717688	G	A	CACNA1C	c.3368G>A	NM_000719.7	NP_000710.5:p.(Arg1123His)	NC_000012.11:g.2717688G>A	VUS	1 lab	0b9e4181e1
6:33156869 COL11A2 C>T	6	33156869	33156869	C	T	COL11A2	c.329G>A	NM_080680.3	NP_542411.2:p.(Arg110Gln)	NC_000006.11:g.33156869C>T	(Likely) benign	1 lab	0ba10e0686
10:79581505 DLG5 G>A	10	79581505	79581505	G	A	DLG5	c.2737C>T	NM_004747.4	NP_004738.3:p.(Arg913Trp)	NC_000010.10:g.79581505G>A	(Likely) benign	1 lab	0ba30aaaa6
10:118969313 KCNK18 C>T	10	118969313	118969313	C	T	KCNK18	c.658C>T	NM_181840.1	NP_862823.1:p.(Arg220Cys)	NC_000010.10:g.118969313C>T	(Likely) benign	1 lab	0ba3c44a33
19:5144397 KDM4B G>A	19	5144397	5144397	G	A	KDM4B	c.2875G>A	NM_015015.3	NP_055830.1:p.(Asp959Asn)	NC_000019.9:g.5144397G>A	(Likely) benign	1 lab	0ba53955cd
14:51376784 PYGL G>A	14	51376784	51376784	G	A	PYGL	c.2006C>T	NM_002863.5	NP_002854.3:p.(Thr669Ile)	NC_000014.8:g.51376784G>A	VUS	1 lab	0ba662aafc
22:37494503 TMPRSS6 G>A	22	37494503	37494503	G	A	TMPRSS6	c.289C>T	NM_153609.4	NP_705837.2:p.(Arg97Trp)	NC_000022.10:g.37494503G>A	VUS	1 lab	19f527b8b7
6:51771044 PKHD1 G>A	6	51771044	51771044	G	A	PKHD1	c.6777C>T	NM_138694.4	NP_619639.3:p.(Phe2259=)	NC_000006.11:g.51771044G>A	(Likely) benign	1 lab	0ba7838c6f
22:50502469 MLC1 A>AGCACCCCCACCCCACAGGCCACTCACCTCCCCG	22	50502469	50502472	A	AGCACCCCCACCCCACAGGCCACTCACCTCCCCG	MLC1	c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC	NM_015166.4	NP_055981.1:p.(Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)	NC_000022.10:g.50502471_50502472insACCCCCACCCCACAGGCCACTCACCTCCCCGGC	(Likely) benign	1 lab	0ba7a00393
7:151856112 KMT2C G>T	7	151856112	151856112	G	T	KMT2C	c.11506C>A	NM_170606.3	NP_733751.2:p.(Gln3836Lys)	NC_000007.13:g.151856112G>T	(Likely) benign	1 lab	19f6b8e75f
8:144992953 PLEC G>A	8	144992953	144992953	G	A	PLEC	c.11036C>T	NM_201384.3	NP_958786.1:p.(Ala3679Val)	NC_000008.10:g.144992953G>A	(Likely) benign	1 lab	0ba9255f3f
13:52524268 ATP7B C>A	13	52524268	52524268	C	A	ATP7B	c.2605G>T	NM_000053.4	NP_000044.2:p.(Gly869Ter)	NC_000013.10:g.52524268C>A	(Likely) pathogenic	1 lab	1a5e66c76d
1:103471673 COL11A1 C>T	1	103471673	103471673	C	T	COL11A1	c.1742G>A	NM_001854.4	NP_001845.3:p.(Arg581His)	NC_000001.10:g.103471673C>T	VUS	1 lab	0baefb7432
14:66028294 FUT8 A>G	14	66028294	66028294	A	G	FUT8	c.13A>G	NM_001371533.1	NP_001358462.1:p.(Thr5Ala)	NC_000014.8:g.66028294A>G	VUS	1 lab	0baf2977e3
2:113332692 POLR1B A>G	2	113332692	113332692	A	G	POLR1B	c.2794A>G	NM_019014.6	NP_061887.2:p.(Ser932Gly)	NC_000002.11:g.113332692A>G	VUS	1 lab	0baf639d0e
9:35802752 NPR2 C>T	9	35802752	35802752	C	T	NPR2	c.1839C>T	NM_003995.4	NP_003986.2:p.(Ile613=)	NC_000009.11:g.35802752C>T	(Likely) benign	1 lab	0bafe91b3a
11:70644669 SHANK2 C>T	11	70644669	70644669	C	T	SHANK2	c.1664-8G>A	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70644669C>T	(Likely) benign	1 lab	0bb05f68f8
11:108190667 ATM G>C	11	108190667	108190667	G	C	ATM	c.6348-14G>C	NM_000051.3	NP_000042.3:p.?	NC_000011.9:g.108190667G>C	(Likely) benign	1 lab	eecf34ab20
X:17152012 REPS2 AAGT>A	X	17152012	17152018	AAGT	A	REPS2	c.1648_1650del	NM_004726.3	NP_004717.2:p.(Ser550del)	NC_000023.10:g.17152016_17152018del	VUS	1 lab	0bb1147ffa
7:4827884 AP5Z1 C>T	7	4827884	4827884	C	T	AP5Z1	c.1554C>T	NM_014855.3	NP_055670.1:p.(Phe518=)	NC_000007.13:g.4827884C>T	(Likely) benign	1 lab	0bb1d557db
15:41341545 INO80 T>C	15	41341545	41341545	T	C	INO80	c.2516A>G	NM_017553.3	NP_060023.1:p.(His839Arg)	NC_000015.9:g.41341545T>C	(Likely) benign	1 lab	0bb3a2a385
X:80064750 BRWD3 C>A	X	80064750	80064750	C	A	BRWD3	c.85G>T	NM_153252.5	NP_694984.5:p.(Ala29Ser)	NC_000023.10:g.80064750C>A	VUS	1 lab	0bb428e648
14:53513660 DDHD1 C>A	14	53513660	53513660	C	A	DDHD1	c.2529G>T	NM_001160148.2	NP_001153620.1:p.(Leu843Phe)	NC_000014.8:g.53513660C>A	VUS	1 lab	0bb4e38eb4
14:65234034 SPTB C>T	14	65234034	65234034	C	T	SPTB	c.6256G>A	NM_001355436.2	NP_001342365.1:p.(Ala2086Thr)	NC_000014.8:g.65234034C>T	(Likely) benign	1 lab	0bb57380f9
1:161205730 NR1I3 A>AGG	1	161205730	161205734	A	AGG	NR1I3	c.143_144dup	NM_005122.5	NP_005113.1:p.(Phe49ProfsTer25)	NC_000001.10:g.161205733_161205734dup	(Likely) benign	1 lab	0bb5f83d15
20:48140626 PTGIS C>T	20	48140626	48140626	C	T	PTGIS	c.824G>A	NM_000961.4	NP_000952.1:p.(Arg275Gln)	NC_000020.10:g.48140626C>T	VUS	1 lab	19f8c14574
17:48695295 CACNA1G C>A	17	48695295	48695295	C	A	CACNA1G	c.5226+5C>A	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48695295C>A	(Likely) benign	1 lab	0bb7e8dd36
7:142583324 TRPV6 T>C	7	142583324	142583324	T	C	TRPV6	c.58A>G	NM_018646.6	NP_061116.5:p.(Arg20Gly)	NC_000007.13:g.142583324T>C	VUS	1 lab	0bbab4edaf
2:179522806 TTN G>A	2	179522806	179522806	G	A	TTN	c.37790C>T	NM_001267550.2	NP_001254479.2:p.(Pro12597Leu)	NC_000002.11:g.179522806G>A	VUS	1 lab	0bbb4c19ae
4:88964525 PKD2 A>C	4	88964525	88964525	A	C	PKD2	c.1235A>C	NM_000297.4	NP_000288.1:p.(Asn412Thr)	NC_000004.11:g.88964525A>C	(Likely) pathogenic	1 lab	0bbbd08021
12:31568386 DENND5B T>G	12	31568386	31568386	T	G	DENND5B	c.2471-4A>C	NM_144973.4	NP_659410.3:p.?	NC_000012.11:g.31568386T>G	(Likely) benign	1 lab	0bbd51fb1d
12:66771008 GRIP1 T>C	12	66771008	66771008	T	C	GRIP1	c.2523A>G	NM_021150.4	NP_066973.2:p.(Gln841=)	NC_000012.11:g.66771008T>C	VUS	1 lab	f04d14b3c3
18:19752153 GATA6 C>G	18	19752153	19752153	C	G	GATA6	c.1048C>G	NM_005257.6	NP_005248.2:p.(Pro350Ala)	NC_000018.9:g.19752153C>G	VUS	1 lab	0bbdf9b7d3
14:75513811 MLH3 G>C	14	75513811	75513811	G	C	MLH3	c.2548C>G	NM_001040108.2	NP_001035197.1:p.(Pro850Ala)	NC_000014.8:g.75513811G>C	VUS	1 lab	0bbfa1819c
7:40027620 CDK13 T>A	7	40027620	40027620	T	A	CDK13	c.1634T>A	NM_003718.5	NP_003709.3:p.(Val545Glu)	NC_000007.13:g.40027620T>A	(Likely) benign	1 lab	0bc0771454
16:58577609 CNOT1 G>A	16	58577609	58577609	G	A	CNOT1	c.4336C>T	NM_016284.5	NP_057368.3:p.(Arg1446Cys)	NC_000016.9:g.58577609G>A	VUS	1 lab	0bc0fd522d
5:94818202 SKIC3 T>C	5	94818202	94818202	T	C	SKIC3	c.4187A>G	NM_014639.4	NP_055454.1:p.(Asn1396Ser)	NC_000005.9:g.94818202T>C	(Likely) benign	1 lab	0bc1cf955d
15:90188249 KIF7 C>T	15	90188249	90188249	C	T	KIF7	c.2186G>A	NM_198525.3	NP_940927.2:p.(Arg729His)	NC_000015.9:g.90188249C>T	VUS	1 lab	0bc28f5a27
1:228559164 OBSCN G>A	1	228559164	228559164	G	A	OBSCN	c.23556G>A	NM_001271223.2	NP_001258152.2:p.(Pro7852=)	NC_000001.10:g.228559164G>A	(Likely) benign	1 lab	1a626baa6c
14:102349587 PPP2R5C C>T	14	102349587	102349587	C	T	PPP2R5C	c.571-7C>T	NM_001352913.2	NP_001339842.1:p.?	NC_000014.8:g.102349587C>T	VUS	1 lab	0bc2ab9fd3
11:108173719 ATM A>C	11	108173719	108173719	A	C	ATM	c.5459A>C	NM_000051.4	NP_000042.3:p.(Lys1820Thr)	NC_000011.9:g.108173719A>C	VUS	1 lab	0bc2c266ef
X:135958781 RBMX C>G	X	135958781	135958781	C	G	RBMX	c.422G>C	NM_002139.4	NP_002130.2:p.(Ser141Thr)	NC_000023.10:g.135958781C>G	VUS	1 lab	0bc2d1398b
2:25459818 DNMT3A C>T	2	25459818	25459818	C	T	DNMT3A	c.2465G>A	NM_022552.5	NP_072046.2:p.(Gly822Asp)	NC_000002.11:g.25459818C>T	VUS	1 lab	0bc2f091ea
5:171765723 SH3PXD2B G>A	5	171765723	171765723	G	A	SH3PXD2B	c.2386C>T	NM_001017995.3	NP_001017995.1:p.(Arg796Cys)	NC_000005.9:g.171765723G>A	VUS	1 lab	0bc4486036
3:37042456 MLH1 T>C	3	37042456	37042456	T	C	MLH1	c.218T>C	NM_000249.4	NP_000240.1:p.(Leu73Pro)	NC_000003.11:g.37042456T>C	(Likely) pathogenic	1 lab	0bc5263eb6
2:113999205 PAX8 C>T	2	113999205	113999205	C	T	PAX8	c.700G>A	NM_003466.4	NP_003457.1:p.(Glu234Lys)	NC_000002.11:g.113999205C>T	(Likely) benign	1 lab	0bc53d970b
11:70348897 SHANK2 G>A	11	70348897	70348897	G	A	SHANK2	c.2197+4C>T	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70348897G>A	(Likely) benign	1 lab	0bc56cf8d4
11:77937768 GAB2 G>A	11	77937768	77937768	G	A	GAB2	c.950C>T	NM_080491.3	NP_536739.1:p.(Pro317Leu)	NC_000011.9:g.77937768G>A	(Likely) benign	1 lab	0bc5c7f6b0
6:30889433 VARS2 C>T	6	30889433	30889433	C	T	VARS2	c.1700C>T	NM_020442.6	NP_065175.4:p.(Thr567Ile)	NC_000006.11:g.30889433C>T	VUS	1 lab	0bc989dc44
13:32968970 BRCA2 G>C	13	32968970	32968970	G	C	BRCA2	c.9401G>C	NM_000059.4	NP_000050.3:p.(Gly3134Ala)	NC_000013.10:g.32968970G>C	VUS	1 lab	0bc9b1bd27
9:35800807 NPR2 C>T	9	35800807	35800807	C	T	NPR2	c.1320C>T	NM_003995.4	NP_003986.2:p.(Ala440=)	NC_000009.11:g.35800807C>T	(Likely) benign	1 lab	0bc9e49a48
X:123199993 STAG2 ATTTTTT>A	X	123199993	123200020	ATTTTTT	A	STAG2	c.2097-10_2097-5del	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123200015_123200020del	(Likely) benign	1 lab	0bc9fde117
11:118344839 KMT2A C>T	11	118344839	118344839	C	T	KMT2A	c.2965C>T	NM_001197104.2	NP_001184033.1:p.(Leu989Phe)	NC_000011.9:g.118344839C>T	(Likely) benign	1 lab	0bca044fe8
6:117237165 RFX6 A>T	6	117237165	117237165	A	T	RFX6	c.781-6A>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117237165A>T	(Likely) benign	1 lab	0bcfb0c63b
8:116427242 TRPS1 C>T	8	116427242	116427242	C	T	TRPS1	c.2894G>A	NM_014112.5	NP_054831.2:p.(Arg965His)	NC_000008.10:g.116427242C>T	(Likely) pathogenic	1 lab	0bd035bfc0
16:53679836 RPGRIP1L G>C	16	53679836	53679836	G	C	RPGRIP1L	c.2384C>G	NM_015272.5	NP_056087.2:p.(Thr795Arg)	NC_000016.9:g.53679836G>C	VUS	1 lab	0bd0b87586
8:134239746 CCN4 G>A	8	134239746	134239746	G	A	CCN4	c.897G>A	NM_003882.4	NP_003873.1:p.(Lys299=)	NC_000008.10:g.134239746G>A	(Likely) benign	1 lab	0bd0d162b2
6:56471668 DST A>C	6	56471668	56471668	A	C	DST	c.7758T>G	NM_001374736.1	NP_001361665.1:p.(Ser2586Arg)	NC_000006.11:g.56471668A>C	VUS	1 lab	0bd12a6a66
6:169622350 THBS2 G>A	6	169622350	169622350	G	A	THBS2	c.3215C>T	NM_003247.5	NP_003238.2:p.(Thr1072Met)	NC_000006.11:g.169622350G>A	VUS	1 lab	0bd1d9be16
X:12734503 FRMPD4 C>T	X	12734503	12734503	C	T	FRMPD4	c.1925C>T	NM_014728.3	NP_055543.2:p.(Ala642Val)	NC_000023.10:g.12734503C>T	(Likely) benign	1 lab	19f9350dbf
X:108708562 GUCY2F A>G	X	108708562	108708562	A	G	GUCY2F	c.841T>C	NM_001522.3	NP_001513.2:p.(Tyr281His)	NC_000023.10:g.108708562A>G	VUS	1 lab	0bd24d3997
16:67693911 ACD G>A	16	67693911	67693911	G	A	ACD	c.137C>T	NM_001082486.2	NP_001075955.2:p.(Ser46Phe)	NC_000016.9:g.67693911G>A	VUS	1 lab	0bd4d6e30a
6:151744745 RMND1 C>G	6	151744745	151744745	C	G	RMND1	c.852G>C	NM_017909.4	NP_060379.2:p.(Arg284Ser)	NC_000006.11:g.151744745C>G	VUS	1 lab	0bd7864d08
8:144993782 PLEC G>A	8	144993782	144993782	G	A	PLEC	c.10207C>T	NM_201384.3	NP_958786.1:p.(Arg3403Trp)	NC_000008.10:g.144993782G>A	VUS	1 lab	0bda3888cf
15:45554273 SLC28A2 C>T	15	45554273	45554273	C	T	SLC28A2	c.231C>T	NM_004212.4	NP_004203.2:p.(Phe77=)	NC_000015.9:g.45554273C>T	VUS	1 lab	0bdbe45905
11:103090735 DYNC2H1 A>T	11	103090735	103090735	A	T	DYNC2H1	c.8924A>T	NM_001377.3	NP_001368.2:p.(Asp2975Val)	NC_000011.9:g.103090735A>T	VUS	1 lab	0bdda14aa7
12:57957472 KIF5A T>G	12	57957472	57957472	T	G	KIF5A	c.287T>G	NM_004984.4	NP_004975.2:p.(Met96Arg)	NC_000012.11:g.57957472T>G	VUS	1 lab	0bded1cab2
20:50230239 ATP9A T>C	20	50230239	50230239	T	C	ATP9A	c.2548A>G	NM_006045.3	NP_006036.1:p.(Ser850Gly)	NC_000020.10:g.50230239T>C	VUS	1 lab	0bdf478968
10:101604074 ABCC2 GC>G	10	101604074	101604076	GC	G	ABCC2	c.3844-3del	NM_000392.5	NP_000383.2:p.?	NC_000010.10:g.101604076del	VUS	1 lab	0be010ece1
22:51143157 SHANK3 C>A	22	51143157	51143157	C	A	SHANK3	c.1997-9C>A	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51143157C>A	VUS	1 lab	0be04a0f47
14:74404718 FAM161B G>A	14	74404718	74404718	G	A	FAM161B	c.1498C>T	NM_152445.3	NP_689658.3:p.(Arg500Cys)	NC_000014.8:g.74404718G>A	(Likely) benign	1 lab	0be0dba6f7
8:92096992 OTUD6B C>CT	8	92096992	92097003	C	CT	OTUD6B	c.798-9dup	NM_016023.5	NP_057107.4:p.?	NC_000008.10:g.92097003dup	VUS	1 lab	0be1c21230
3:12641889 RAF1 G>A	3	12641889	12641889	G	A	RAF1	c.860C>T	NM_002880.4	NP_002871.1:p.(Ser287Leu)	NC_000003.11:g.12641889G>A	VUS	1 lab	0be32a1615
5:37046310 NIPBL A>G	5	37046310	37046310	A	G	NIPBL	c.6589+9A>G	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37046310A>G	(Likely) benign	1 lab	0be66519ee
6:139197624 ECT2L G>C	6	139197624	139197624	G	C	ECT2L	c.1594G>C	NM_001077706.3	NP_001071174.1:p.(Glu532Gln)	NC_000006.11:g.139197624G>C	(Likely) benign	1 lab	0be7a58757
X:13757161 OFD1 G>C	X	13757161	13757161	G	C	OFD1	c.412+10G>C	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13757161G>C	(Likely) benign	1 lab	0bea689ff7
12:20801640 PDE3A C>T	12	20801640	20801640	C	T	PDE3A	c.2584C>T	NM_000921.5	NP_000912.3:p.(Arg862Cys)	NC_000012.11:g.20801640C>T	VUS	1 lab	0bea81c5aa
19:48800289 ODAD1 C>T	19	48800289	48800289	C	T	ODAD1	c.2068G>A	NM_001364171.2	NP_001351100.1:p.(Gly690Ser)	NC_000019.9:g.48800289C>T	(Likely) benign	1 lab	0bea9688af
3:31656614 STT3B A>G	3	31656614	31656614	A	G	STT3B	c.895A>G	NM_178862.3	NP_849193.1:p.(Ile299Val)	NC_000003.11:g.31656614A>G	VUS	1 lab	0beb19c2a1
16:68857398 CDH1 T>C	16	68857398	68857398	T	C	CDH1	c.2033T>C	NM_004360.5	NP_004351.1:p.(Val678Ala)	NC_000016.9:g.68857398T>C	(Likely) benign	1 lab	0beb4115a7
15:72640420 HEXA A>C	15	72640420	72640420	A	C	HEXA	c.1042T>G	NM_000520.6	NP_000511.2:p.(Phe348Val)	NC_000015.9:g.72640420A>C	VUS	1 lab	0beb5f2f28
1:160062119 IGSF8 G>A	1	160062119	160062119	G	A	IGSF8	c.1679C>T	NM_052868.6	NP_443100.1:p.(Ala560Val)	NC_000001.10:g.160062119G>A	(Likely) benign	1 lab	0beef23bca
2:70406718 C2orf42 C>A	2	70406718	70406718	C	A	C2orf42	c.880G>T	NM_017880.3	NP_060350.1:p.(Ala294Ser)	NC_000002.11:g.70406718C>A	(Likely) benign	1 lab	0beff990bb
11:6412853 SMPD1 G>GC	11	6412853	6412859	G	GC	SMPD1	c.564dup	NM_000543.5	NP_000534.3:p.(Lys189GlnfsTer4)	NC_000011.9:g.6412859dup	(Likely) benign	1 lab	0bf15613b5
1:100587067 SASS6 T>C	1	100587067	100587067	T	C	SASS6	c.350A>G	NM_194292.3	NP_919268.1:p.(Asp117Gly)	NC_000001.10:g.100587067T>C	(Likely) benign	1 lab	0bf2fd803b
10:89473068 PAPSS2 G>A	10	89473068	89473068	G	A	PAPSS2	c.381+1G>A	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473068G>A	(Likely) pathogenic	1 lab	0bf3bbe4ec
11:46329410 CREB3L1 CA>T	11	46329410	46329411	CA	T	CREB3L1	c.375_376delinsT	NM_052854.4	NP_443086.1:p.(Ile126SerfsTer3)	NC_000011.9:g.46329410_46329411delinsT	(Likely) pathogenic	1 lab	0bf4e5c92f
15:91543009 VPS33B C>G	15	91543009	91543009	C	G	VPS33B	c.1672G>C	NM_018668.5	NP_061138.3:p.(Asp558His)	NC_000015.9:g.91543009C>G	(Likely) benign	1 lab	0bf50e7ef5
12:113835052 SDS T>C	12	113835052	113835052	T	C	SDS	c.571A>G	NM_006843.3	NP_006834.2:p.(Ile191Val)	NC_000012.11:g.113835052T>C	(Likely) benign	1 lab	0bf5c6e859
12:124810837 NCOR2 C>A	12	124810837	124810837	C	A	NCOR2	c.7263G>T	NM_006312.6	NP_006303.4:p.(Gly2421=)	NC_000012.11:g.124810837C>A	(Likely) benign	1 lab	0bf66fc173
1:228346448 GJC2 C>A	1	228346448	228346448	C	A	GJC2	c.989C>A	NM_020435.4	NP_065168.2:p.(Pro330Gln)	NC_000001.10:g.228346448C>A	VUS	1 lab	0bf6e7c54e
9:109687843 ZNF462 G>GCCA	9	109687843	109687855	G	GCCA	ZNF462	c.1660_1662dup	NM_021224.6	NP_067047.4:p.(Pro554dup)	NC_000009.11:g.109687853_109687855dup	VUS	1 lab	0bf75d4bbc
14:44975771 FSCB C>T	14	44975771	44975771	C	T	FSCB	c.420G>A	NM_032135.4	NP_115511.3:p.(Trp140Ter)	NC_000014.8:g.44975771C>T	(Likely) benign	1 lab	0bf7f57649
12:88447432 CEP290 G>A	12	88447432	88447432	G	A	CEP290	c.7126C>T	NM_025114.4	NP_079390.3:p.(Pro2376Ser)	NC_000012.11:g.88447432G>A	VUS	1 lab	0bf8b95ddd
15:100252709 MEF2A C>CCAGCAGCAG	15	100252709	100252743	C	CCAGCAGCAG	MEF2A	c.1277_1285dup	NM_001319206.4	NP_001306135.1:p.(Gln426_Gln428dup)	NC_000015.9:g.100252735_100252743dup	VUS	1 lab	0bf8c84943
1:183511351 SMG7 G>A	1	183511351	183511351	G	A	SMG7	c.1556G>A	NM_001375584.1	NP_001362513.1:p.(Gly519Glu)	NC_000001.10:g.183511351G>A	VUS	1 lab	0bf9a8ae7d
13:115091227 CHAMP1 T>C	13	115091227	115091227	T	C	CHAMP1	c.1910T>C	NM_032436.4	NP_115812.1:p.(Ile637Thr)	NC_000013.10:g.115091227T>C	(Likely) benign	1 lab	0bfa10ed2f
X:47307181 ZNF41 T>C	X	47307181	47307181	T	C	ZNF41	c.1988A>G	NM_001324144.2	NP_001311073.1:p.(Asn663Ser)	NC_000023.10:g.47307181T>C	(Likely) benign	1 lab	0bfa51c57a
1:152284823 FLG A>T	1	152284823	152284823	A	T	FLG	c.2539T>A	NM_002016.2	NP_002007.1:p.(Ser847Thr)	NC_000001.10:g.152284823A>T	(Likely) benign	1 lab	0bfb3c1742
6:117246823 RFX6 G>T	6	117246823	117246823	G	T	RFX6	c.1885+1G>T	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117246823G>T	(Likely) pathogenic	1 lab	0bfc93dd4b
7:47944920 PKD1L1 C>T	7	47944920	47944920	C	T	PKD1L1	c.1525G>A	NM_138295.5	NP_612152.1:p.(Val509Ile)	NC_000007.13:g.47944920C>T	(Likely) benign	1 lab	0bfd78ab0b
12:103246713 PAH C>A	12	103246713	103246713	C	A	PAH	c.722G>T	NM_000277.3	NP_000268.1:p.(Arg241Leu)	NC_000012.11:g.103246713C>A	(Likely) pathogenic	1 lab	1a667a1426
1:161200970 NR1I3 G>A	1	161200970	161200970	G	A	NR1I3	c.748C>T	NM_005122.5	NP_005113.1:p.(Arg250Ter)	NC_000001.10:g.161200970G>A	VUS	1 lab	0bfedfe975
16:88790340 PIEZO1 C>T	16	88790340	88790340	C	T	PIEZO1	c.4274G>A	NM_001142864.4	NP_001136336.2:p.(Ser1425Asn)	NC_000016.9:g.88790340C>T	(Likely) benign	1 lab	0bffffc9dc
7:128519849 KCP C>T	7	128519849	128519849	C	T	KCP	c.3967G>A	NM_001366122.1	NP_001353051.1:p.(Gly1323Ser)	NC_000007.13:g.128519849C>T	(Likely) benign	1 lab	0c005c1f3d
2:47278894 TTC7A G>A	2	47278894	47278894	G	A	TTC7A	c.2027G>A	NM_020458.4	NP_065191.2:p.(Arg676Gln)	NC_000002.11:g.47278894G>A	(Likely) benign	1 lab	0c020ec1f0
11:68131300 LRP5 C>T	11	68131300	68131300	C	T	LRP5	c.772C>T	NM_002335.4	NP_002326.2:p.(Arg258Cys)	NC_000011.9:g.68131300C>T	VUS	1 lab	0c03afdf8e
17:7978925 ALOX12B G>A	17	7978925	7978925	G	A	ALOX12B	c.1642C>T	NM_001139.3	NP_001130.1:p.(Arg548Trp)	NC_000017.10:g.7978925G>A	(Likely) pathogenic	1 lab	0c044a08e3
4:16168426 TAPT1 G>C	4	16168426	16168426	G	C	TAPT1	c.1314-10C>G	NM_153365.3	NP_699196.2:p.?	NC_000004.11:g.16168426G>C	(Likely) benign	1 lab	0c04857343
1:153665599 NPR1 T>A	1	153665599	153665599	T	A	NPR1	c.3049T>A	NM_000906.4	NP_000897.3:p.(Ser1017Thr)	NC_000001.10:g.153665599T>A	VUS	1 lab	0c04c9cf95
1:22160002 HSPG2 G>A	1	22160002	22160002	G	A	HSPG2	c.10936C>T	NM_005529.7	NP_005520.4:p.(Arg3646Cys)	NC_000001.10:g.22160002G>A	VUS	1 lab	0c0522f2b3
7:83634651 SEMA3A T>C	7	83634651	83634651	T	C	SEMA3A	c.1360+4A>G	NM_006080.3	NP_006071.1:p.?	NC_000007.13:g.83634651T>C	(Likely) benign	1 lab	0c057c3787
12:42860181 PRICKLE1 A>G	12	42860181	42860181	A	G	PRICKLE1	c.590T>C	NM_153026.3	NP_694571.2:p.(Ile197Thr)	NC_000012.11:g.42860181A>G	VUS	1 lab	0c06ad0f6e
5:149763309 TCOF1 GTCT>G	5	149763309	149763316	GTCT	G	TCOF1	c.2859+4019_2859+4021del	NM_001371623.1	NP_001358552.1:p.?	NC_000005.9:g.149763314_149763316del	VUS	1 lab	0c086b504f
16:88793369 PIEZO1 G>A	16	88793369	88793369	G	A	PIEZO1	c.3456-3C>T	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88793369G>A	VUS	1 lab	0c08d2117f
10:96084680 PLCE1 C>A	10	96084680	96084680	C	A	PLCE1	c.6752C>A	NM_016341.4	NP_057425.3:p.(Ser2251Tyr)	NC_000010.10:g.96084680C>A	VUS	1 lab	0c0ac52a78
8:6482463 MCPH1 C>G	8	6482463	6482463	C	G	MCPH1	c.2452+3251C>G	NM_024596.5	NP_078872.3:p.?	NC_000008.10:g.6482463C>G	(Likely) benign	1 lab	0c0af681a3
5:45696036 HCN1 C>G	5	45696036	45696036	C	G	HCN1	c.160G>C	NM_021072.4	NP_066550.2:p.(Gly54Arg)	NC_000005.9:g.45696036C>G	VUS	1 lab	0c0c7f401d
7:103162509 RELN C>G	7	103162509	103162509	C	G	RELN	c.7628G>C	NM_005045.4	NP_005036.2:p.(Cys2543Ser)	NC_000007.13:g.103162509C>G	VUS	1 lab	0c0d5f0f0f
1:228465202 OBSCN C>T	1	228465202	228465202	C	T	OBSCN	c.7880-4C>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228465202C>T	(Likely) benign	1 lab	0c0d67e1d1
12:133160047 FBRSL1 C>G	12	133160047	133160047	C	G	FBRSL1	c.2692C>G	NM_001367871.1	NP_001354800.1:p.(Leu898Val)	NC_000012.11:g.133160047C>G	(Likely) benign	1 lab	0c0dc73a23
X:53106023 GPR173 G>A	X	53106023	53106023	G	A	GPR173	c.220G>A	NM_018969.6	NP_061842.1:p.(Val74Ile)	NC_000023.10:g.53106023G>A	(Likely) benign	1 lab	0c0ecc4229
1:154029401 NUP210L A>G	1	154029401	154029401	A	G	NUP210L	c.3130T>C	NM_207308.3	NP_997191.2:p.(Tyr1044His)	NC_000001.10:g.154029401A>G	(Likely) benign	1 lab	0c0f4b9f76
12:132445687 EP400 G>A	12	132445687	132445687	G	A	EP400	c.523G>A	NM_015409.5	NP_056224.3:p.(Val175Met)	NC_000012.11:g.132445687G>A	(Likely) benign	1 lab	0c117857cb
16:22271849 EEF2K G>T	16	22271849	22271849	G	T	EEF2K	c.1298G>T	NM_013302.5	NP_037434.2:p.(Arg433Leu)	NC_000016.9:g.22271849G>T	VUS	1 lab	0c1709b8b3
4:517261 PIGG C>G	4	517261	517261	C	G	PIGG	c.1628C>G	NM_001127178.3	NP_001120650.1:p.(Pro543Arg)	NC_000004.11:g.517261C>G	(Likely) benign	1 lab	f176df3900
16:72822591 ZFHX3 G>GA	16	72822591	72822592	G	GA	ZFHX3	c.9583_9584insT	NM_006885.4	NP_008816.3:p.(Pro3195LeufsTer44)	NC_000016.9:g.72822591_72822592insA	VUS	1 lab	0c1774dda9
1:226125168 LEFTY2 C>A	1	226125168	226125168	C	A	LEFTY2	c.1074G>T	NM_003240.5	NP_003231.2:p.(Ala358=)	NC_000001.10:g.226125168C>A	(Likely) benign	1 lab	0c19f1d720
5:170815020 NPM1 G>T	5	170815020	170815020	G	T	NPM1	c.58+10G>T	NM_002520.7	NP_002511.1:p.?	NC_000005.9:g.170815020G>T	(Likely) benign	1 lab	0c1a495631
13:101763489 NALCN G>A	13	101763489	101763489	G	A	NALCN	c.2281C>T	NM_052867.4	NP_443099.1:p.(Arg761Cys)	NC_000013.10:g.101763489G>A	(Likely) benign	1 lab	0c1a930016
17:41719373 MEOX1 T>C	17	41719373	41719373	T	C	MEOX1	c.670A>G	NM_004527.4	NP_004518.1:p.(Met224Val)	NC_000017.10:g.41719373T>C	VUS	1 lab	0c1bb0d8d3
2:179616568 TTN G>A	2	179616568	179616568	G	A	TTN	c.11311+1283C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616568G>A	(Likely) benign	1 lab	0c1bcbed81
11:2189413 TH T>C	11	2189413	2189413	T	C	TH	c.581-4A>G	NM_199292.3	NP_954986.2:p.?	NC_000011.9:g.2189413T>C	(Likely) benign	1 lab	19fc5c6b7c
12:49444810 KMT2D G>A	12	49444810	49444810	G	A	KMT2D	c.2656C>T	NM_003482.4	NP_003473.3:p.(Pro886Ser)	NC_000012.11:g.49444810G>A	VUS	1 lab	19fcd24e73
20:62046571 KCNQ2 C>T	20	62046571	62046571	C	T	KCNQ2	c.1302-92G>A	NM_172107.4	NP_742105.1:p.?	NC_000020.10:g.62046571C>T	(Likely) benign	1 lab	1a694f5afd
2:179404506 TTN G>C	2	179404506	179404506	G	C	TTN	c.98286C>G	NM_001267550.2	NP_001254479.2:p.(Ile32762Met)	NC_000002.11:g.179404506G>C	VUS	1 lab	0c22bdd7ff
12:94769769 CEP83 G>A	12	94769769	94769769	G	A	CEP83	c.826C>T	NM_016122.3	NP_057206.2:p.(Arg276Trp)	NC_000012.11:g.94769769G>A	(Likely) benign	1 lab	0c230bb880
2:20189006 WDR35 G>T	2	20189006	20189006	G	T	WDR35	c.62C>A	NM_020779.4	NP_065830.2:p.(Ser21Tyr)	NC_000002.11:g.20189006G>T	VUS	1 lab	0c23e833af
3:136240253 STAG1 C>T	3	136240253	136240253	C	T	STAG1	c.478G>A	NM_005862.3	NP_005853.2:p.(Gly160Ser)	NC_000003.11:g.136240253C>T	VUS	1 lab	0c246da302
5:42695163 GHR T>A	5	42695163	42695163	T	A	GHR	c.411T>A	NM_000163.5	NP_000154.1:p.(Asp137Glu)	NC_000005.9:g.42695163T>A	(Likely) benign	1 lab	0c258bcdae
9:130982567 DNM1 C>T	9	130982567	130982567	C	T	DNM1	c.796C>T	NM_004408.4	NP_004399.2:p.(Arg266Cys)	NC_000009.11:g.130982567C>T	VUS	1 lab	0c265db722
8:27327367 CHRNA2 C>A	8	27327367	27327367	C	A	CHRNA2	c.205G>T	NM_000742.4	NP_000733.2:p.(Gly69Cys)	NC_000008.10:g.27327367C>A	VUS	1 lab	0c296c61e8
8:119123140 EXT1 G>C	8	119123140	119123140	G	C	EXT1	c.146C>G	NM_000127.3	NP_000118.2:p.(Pro49Arg)	NC_000008.10:g.119123140G>C	(Likely) benign	1 lab	0c29cbac90
3:45772787 SACM1L T>C	3	45772787	45772787	T	C	SACM1L	c.922-6T>C	NM_014016.5	NP_054735.3:p.?	NC_000003.11:g.45772787T>C	(Likely) benign	1 lab	0c2aae6586
11:76915213 MYO7A G>A	11	76915213	76915213	G	A	MYO7A	c.5419G>A	NM_000260.4	NP_000251.3:p.(Glu1807Lys)	NC_000011.9:g.76915213G>A	VUS	1 lab	0c2db89ba0
7:121943867 FEZF1 C>T	7	121943867	121943867	C	T	FEZF1	c.625G>A	NM_001024613.4	NP_001019784.2:p.(Val209Met)	NC_000007.13:g.121943867C>T	VUS	1 lab	0c2ef8b726
X:37028000 FAM47C G>C	X	37028000	37028000	G	C	FAM47C	c.1517G>C	NM_001013736.3	NP_001013758.1:p.(Arg506Pro)	NC_000023.10:g.37028000G>C	(Likely) benign	1 lab	0c3069b81b
11:22283684 ANO5 G>A	11	22283684	22283684	G	A	ANO5	c.1640G>A	NM_213599.3	NP_998764.1:p.(Arg547Gln)	NC_000011.9:g.22283684G>A	VUS	1 lab	0c316e0d57
4:1952795 NSD2 C>G	4	1952795	1952795	C	G	NSD2	c.1882-4C>G	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1952795C>G	(Likely) benign	1 lab	0c3344a6d9
19:7184345 INSR T>A	19	7184345	7184345	T	A	INSR	c.956A>T	NM_000208.4	NP_000199.2:p.(Tyr319Phe)	NC_000019.9:g.7184345T>A	(Likely) benign	1 lab	0c33b7e6d7
14:76090978 FLVCR2 C>T	14	76090978	76090978	C	T	FLVCR2	c.835C>T	NM_017791.3	NP_060261.2:p.(Pro279Ser)	NC_000014.8:g.76090978C>T	(Likely) benign	1 lab	0c351e7423
20:49576362 MOCS3 A>G	20	49576362	49576362	A	G	MOCS3	c.983A>G	NM_014484.5	NP_055299.1:p.(Gln328Arg)	NC_000020.10:g.49576362A>G	(Likely) benign	1 lab	0c364451fa
5:136328253 SPOCK1 C>T	5	136328253	136328253	C	T	SPOCK1	c.626G>A	NM_004598.4	NP_004589.1:p.(Arg209Gln)	NC_000005.9:g.136328253C>T	(Likely) benign	1 lab	0c37560db2
16:78458790 WWOX A>G	16	78458790	78458790	A	G	WWOX	c.629A>G	NM_016373.4	NP_057457.1:p.(Asn210Ser)	NC_000016.9:g.78458790A>G	VUS	1 lab	0c385e6173
3:9934759 JAGN1 C>G	3	9934759	9934759	C	G	JAGN1	c.250C>G	NM_032492.4	NP_115881.3:p.(Pro84Ala)	NC_000003.11:g.9934759C>G	(Likely) benign	1 lab	0c3aecf747
2:241700764 KIF1A G>A	2	241700764	241700764	G	A	KIF1A	c.2147C>T	NM_001244008.2	NP_001230937.1:p.(Ala716Val)	NC_000002.11:g.241700764G>A	(Likely) benign	1 lab	0c3b907754
5:79372769 THBS4 G>A	5	79372769	79372769	G	A	THBS4	c.1984G>A	NM_003248.6	NP_003239.2:p.(Glu662Lys)	NC_000005.9:g.79372769G>A	VUS	1 lab	0c3c9e9591
4:1804752 FGFR3 G>A	4	1804752	1804752	G	A	FGFR3	c.931-667G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804752G>A	(Likely) benign	1 lab	0c3df62bc4
X:153051413 IDH3G T>C	X	153051413	153051413	T	C	IDH3G	c.1096A>G	NM_004135.4	NP_004126.1:p.(Ile366Val)	NC_000023.10:g.153051413T>C	VUS	1 lab	0c3ed31ae3
14:23901989 MYH7 A>G	14	23901989	23901989	A	G	MYH7	c.361T>C	NM_000257.4	NP_000248.2:p.(Phe121Leu)	NC_000014.8:g.23901989A>G	VUS	1 lab	0c3ed4fe0b
14:24780849 LTB4R C>G	14	24780849	24780849	C	G	LTB4R	c.-177C>G	NM_001143919.3	NP_001137391.1:p.?	NC_000014.8:g.24780849C>G	(Likely) benign	1 lab	0c40a3d81a
1:213061904 FLVCR1 A>T	1	213061904	213061904	A	T	FLVCR1	c.1381A>T	NM_014053.4	NP_054772.1:p.(Thr461Ser)	NC_000001.10:g.213061904A>T	VUS	1 lab	0c40f15c76
17:3978441 ZZEF1 C>T	17	3978441	3978441	C	T	ZZEF1	c.3433G>A	NM_015113.4	NP_055928.3:p.(Gly1145Ser)	NC_000017.10:g.3978441C>T	VUS	1 lab	0c414d7ce7
21:48069615 PRMT2 C>T	21	48069615	48069615	C	T	PRMT2	c.618C>T	NM_206962.4	NP_996845.1:p.(Asp206=)	NC_000021.8:g.48069615C>T	(Likely) benign	1 lab	0c416dcf90
18:20581659 RBBP8 G>C	18	20581659	20581659	G	C	RBBP8	c.2254G>C	NM_002894.3	NP_002885.1:p.(Glu752Gln)	NC_000018.9:g.20581659G>C	(Likely) benign	1 lab	0c42d43169
2:167289216 SCN7A T>C	2	167289216	167289216	T	C	SCN7A	c.2204A>G	NM_002976.4	NP_002967.2:p.(Lys735Arg)	NC_000002.11:g.167289216T>C	(Likely) benign	1 lab	0c451fc97b
11:64559443 MAP4K2 C>T	11	64559443	64559443	C	T	MAP4K2	c.2030G>A	NM_004579.5	NP_004570.2:p.(Arg677His)	NC_000011.9:g.64559443C>T	VUS	1 lab	0c476c506e
17:79479384 ACTG1 G>A	17	79479384	79479384	G	A	ACTG1	c.-4C>T	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79479384G>A	(Likely) benign	1 lab	0c48356ac7
15:65930500 SLC24A1 A>G	15	65930500	65930500	A	G	SLC24A1	c.1925A>G	NM_004727.3	NP_004718.1:p.(Gln642Arg)	NC_000015.9:g.65930500A>G	(Likely) benign	1 lab	0c49699746
16:51173514 SALL1 G>C	16	51173514	51173514	G	C	SALL1	c.2619C>G	NM_002968.3	NP_002959.2:p.(Ile873Met)	NC_000016.9:g.51173514G>C	(Likely) benign	1 lab	0c4a7766df
19:47259482 FKRP C>T	19	47259482	47259482	C	T	FKRP	c.775C>T	NM_024301.5	NP_077277.1:p.(Arg259Cys)	NC_000019.9:g.47259482C>T	VUS	1 lab	0c4aaa4ced
12:13720170 GRIN2B C>A	12	13720170	13720170	C	A	GRIN2B	c.2387G>T	NM_000834.4	NP_000825.2:p.(Trp796Leu)	NC_000012.11:g.13720170C>A	(Likely) pathogenic	1 lab	1a6d09d61a
11:119548402 NECTIN1 C>T	11	119548402	119548402	C	T	NECTIN1	c.596G>A	NM_002855.5	NP_002846.3:p.(Arg199Gln)	NC_000011.9:g.119548402C>T	(Likely) benign	1 lab	0c4bbebb91
4:152096238 SH3D19 G>A	4	152096238	152096238	G	A	SH3D19	c.1118C>T	NM_001378122.1	NP_001365051.1:p.(Ala373Val)	NC_000004.11:g.152096238G>A	(Likely) benign	1 lab	0c4bf199c4
1:103352429 COL11A1 C>T	1	103352429	103352429	C	T	COL11A1	c.4792G>A	NM_001854.4	NP_001845.3:p.(Gly1598Ser)	NC_000001.10:g.103352429C>T	VUS	1 lab	0c4c867cec
17:40630997 ATP6V0A1 C>T	17	40630997	40630997	C	T	ATP6V0A1	c.633+390C>T	NM_001130021.3	NP_001123493.1:p.?	NC_000017.10:g.40630997C>T	VUS	1 lab	0c4cd3b801
2:182542895 NEUROD1 G>T	2	182542895	182542895	G	T	NEUROD1	c.693C>A	NM_002500.5	NP_002491.3:p.(Tyr231Ter)	NC_000002.11:g.182542895G>T	(Likely) pathogenic	1 lab	0c4f548e61
8:145024628 PLEC G>A	8	145024628	145024628	G	A	PLEC	c.247C>T	NM_201380.4	NP_958782.1:p.(Arg83Cys)	NC_000008.10:g.145024628G>A	(Likely) benign	1 lab	1a6d824fb9
16:88789672 PIEZO1 T>TCCTGCC	16	88789672	88789678	T	TCCTGCC	PIEZO1	c.4399_4400insGGCAGG	NM_001142864.4	NP_001136336.2:p.(Gln1466_Glu1467insGlyGln)	NC_000016.9:g.88789677_88789678insCCCTGC	(Likely) benign	1 lab	0c5235ac04
2:230693941 TRIP12 T>C	2	230693941	230693941	T	C	TRIP12	c.1274A>G	NM_004238.3	NP_004229.1:p.(Gln425Arg)	NC_000002.11:g.230693941T>C	VUS	1 lab	19fe51ec05
X:19533142 MAP3K15 C>A	X	19533142	19533142	C	A	MAP3K15	c.238G>T	NM_001001671.4	NP_001001671.3:p.(Glu80Ter)	NC_000023.10:g.19533142C>A	VUS	1 lab	0c553acc8f
20:37128284 RALGAPB A>G	20	37128284	37128284	A	G	RALGAPB	c.740+8A>G	NM_020336.4	NP_065069.1:p.?	NC_000020.10:g.37128284A>G	VUS	1 lab	0c55e77528
3:142178186 ATR A>T	3	142178186	142178186	A	T	ATR	c.7232T>A	NM_001184.4	NP_001175.2:p.(Leu2411Gln)	NC_000003.11:g.142178186A>T	VUS	1 lab	0c55e9f0fb
1:152278148 FLG A>T	1	152278148	152278148	A	T	FLG	c.9214T>A	NM_002016.2	NP_002007.1:p.(Ser3072Thr)	NC_000001.10:g.152278148A>T	(Likely) benign	1 lab	0c5828e950
22:50315317 CRELD2 G>A	22	50315317	50315317	G	A	CRELD2	c.500G>A	NM_024324.5	NP_077300.3:p.(Arg167Gln)	NC_000022.10:g.50315317G>A	(Likely) benign	1 lab	0c5a0876d1
6:26056286 H1-2 C>G	6	26056286	26056286	C	G	H1-2	c.371G>C	NM_005319.4	NP_005310.1:p.(Gly124Ala)	NC_000006.11:g.26056286C>G	(Likely) benign	1 lab	0c5ace7fee
19:50918153 POLD1 A>T	19	50918153	50918153	A	T	POLD1	c.2470A>T	NM_002691.4	NP_002682.2:p.(Met824Leu)	NC_000019.9:g.50918153A>T	VUS	1 lab	0c5b97415d
6:117244330 RFX6 A>T	6	117244330	117244330	A	T	RFX6	c.1498A>T	NM_173560.4	NP_775831.2:p.(Ser500Cys)	NC_000006.11:g.117244330A>T	VUS	1 lab	0c5c6aadc0
19:6424664 KHSRP C>T	19	6424664	6424664	C	T	KHSRP	c.49G>A	NM_001366299.1	NP_001353228.1:p.(Ala17Thr)	NC_000019.9:g.6424664C>T	(Likely) benign	1 lab	0c5df78bf9
3:171320907 PLD1 C>T	3	171320907	171320907	C	T	PLD1	c.3186G>A	NM_002662.5	NP_002653.1:p.(Gly1062=)	NC_000003.11:g.171320907C>T	(Likely) benign	1 lab	0c5fc3933d
21:46624569 ADARB1 C>A	21	46624569	46624569	C	A	ADARB1	c.1665C>A	NM_001112.4	NP_001103.1:p.(His555Gln)	NC_000021.8:g.46624569C>A	VUS	1 lab	0c68c0dd83
2:197710616 PGAP1 T>C	2	197710616	197710616	T	C	PGAP1	c.2276A>G	NM_024989.4	NP_079265.2:p.(Tyr759Cys)	NC_000002.11:g.197710616T>C	VUS	1 lab	0c6d16f53b
22:46762274 CELSR1 C>T	22	46762274	46762274	C	T	CELSR1	c.8300+9G>A	NM_001378328.1	NP_001365257.1:p.?	NC_000022.10:g.46762274C>T	(Likely) benign	1 lab	0c6e42f3c9
3:126707467 PLXNA1 C>T	3	126707467	126707467	C	T	PLXNA1	c.31C>T	NM_032242.4	NP_115618.3:p.(Leu11Phe)	NC_000003.11:g.126707467C>T	VUS	1 lab	0c6e6297c4
3:126733133 PLXNA1 G>A	3	126733133	126733133	G	A	PLXNA1	c.2519G>A	NM_032242.4	NP_115618.3:p.(Arg840Gln)	NC_000003.11:g.126733133G>A	VUS	1 lab	0c6f850d0e
7:151859885 KMT2C A>G	7	151859885	151859885	A	G	KMT2C	c.10777T>C	NM_170606.3	NP_733751.2:p.(Tyr3593His)	NC_000007.13:g.151859885A>G	(Likely) benign	1 lab	0c707c8fa8
3:66428118 SLC25A26 T>C	3	66428118	66428118	T	C	SLC25A26	c.712T>C	NM_001379210.1	NP_001366139.1:p.(Phe238Leu)	NC_000003.11:g.66428118T>C	VUS	1 lab	0c70da9cc0
15:89400531 ACAN G>A	15	89400531	89400531	G	A	ACAN	c.4715G>A	NM_001369268.1	NP_001356197.1:p.(Gly1572Glu)	NC_000015.9:g.89400531G>A	VUS	1 lab	0c71866995
17:36093790 HNF1B G>T	17	36093790	36093790	G	T	HNF1B	c.569C>A	NM_000458.4	NP_000449.1:p.(Ser190Tyr)	NC_000017.10:g.36093790G>T	VUS	1 lab	0c79f3b6b8
15:89400199 ACAN C>T	15	89400199	89400199	C	T	ACAN	c.4383C>T	NM_001369268.1	NP_001356197.1:p.(Thr1461=)	NC_000015.9:g.89400199C>T	(Likely) benign	1 lab	0c7cd0e228
7:151878646 KMT2C G>A	7	151878646	151878646	G	A	KMT2C	c.6299C>T	NM_170606.3	NP_733751.2:p.(Thr2100Ile)	NC_000007.13:g.151878646G>A	VUS	1 lab	0c7ea37205
14:54423482 BMP4 T>A	14	54423482	54423482	T	A	BMP4	c.-347A>T	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54423482T>A	VUS	1 lab	0c815d6726
11:118627020 DDX6 G>A	11	118627020	118627020	G	A	DDX6	c.1123C>T	NM_004397.6	NP_004388.2:p.(Arg375Cys)	NC_000011.9:g.118627020G>A	(Likely) pathogenic	1 lab	0c87d4edfc
X:12904934 TLR7 C>T	X	12904934	12904934	C	T	TLR7	c.1307C>T	NM_016562.4	NP_057646.1:p.(Ser436Leu)	NC_000023.10:g.12904934C>T	VUS	1 lab	0c881bc4ae
5:37121891 CPLANE1 A>G	5	37121891	37121891	A	G	CPLANE1	c.9018-5T>C	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37121891A>G	(Likely) benign	1 lab	0c882493ab
9:20715312 FOCAD T>C	9	20715312	20715312	T	C	FOCAD	c.-32-9T>C	NM_001375567.1	NP_001362496.1:p.?	NC_000009.11:g.20715312T>C	(Likely) benign	1 lab	0c88f49153
3:100067724 NIT2 C>T	3	100067724	100067724	C	T	NIT2	c.583C>T	NM_020202.5	NP_064587.1:p.(Arg195Trp)	NC_000003.11:g.100067724C>T	VUS	1 lab	0c8a59c5d0
10:61819505 ANK3 C>A	10	61819505	61819505	C	A	ANK3	c.12596-317G>T	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61819505C>A	VUS	1 lab	0c8a6891d8
19:39882019 MED29 A>T	19	39882019	39882019	A	T	MED29	c.-44A>T	NM_017592.4	NP_060062.2:p.?	NC_000019.9:g.39882019A>T	VUS	1 lab	0c8d43e634
12:124268494 DNAH10 G>A	12	124268494	124268494	G	A	DNAH10	c.1000G>A	NM_001372106.1	NP_001359035.1:p.(Gly334Ser)	NC_000012.11:g.124268494G>A	(Likely) benign	1 lab	0c8e672ead
1:113254975 PPM1J G>A	1	113254975	113254975	G	A	PPM1J	c.834C>T	NM_005167.7	NP_005158.5:p.(Gly278=)	NC_000001.10:g.113254975G>A	VUS	1 lab	0c8ebb0fac
22:45958793 FBLN1 C>T	22	45958793	45958793	C	T	FBLN1	c.1698-11598C>T	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45958793C>T	(Likely) benign	1 lab	0c8ee6d68b
4:2941372 NOP14 C>T	4	2941372	2941372	C	T	NOP14	c.2200G>A	NM_001291978.2	NP_001278907.1:p.(Glu734Lys)	NC_000004.11:g.2941372C>T	VUS	1 lab	0c919c76dd
1:1464710 ATAD3A AGGTGAGTCAGGCTCC>A	1	1464710	1464727	AGGTGAGTCAGGCTCC	A	ATAD3A	c.1614+2_1614+16del	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1464713_1464727del	(Likely) pathogenic	1 lab	0c91db65d8
14:51224356 NIN C>T	14	51224356	51224356	C	T	NIN	c.3392G>A	NM_020921.4	NP_065972.4:p.(Arg1131Gln)	NC_000014.8:g.51224356C>T	(Likely) benign	1 lab	0c91e712d1
19:13386648 CACNA1A T>C	19	13386648	13386648	T	C	CACNA1A	c.3989+16A>G	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13386648T>C	(Likely) benign	1 lab	0c937082a7
17:36622607 ARHGAP23 C>T	17	36622607	36622607	C	T	ARHGAP23	c.683C>T	NM_001199417.2	NP_001186346.1:p.(Pro228Leu)	NC_000017.10:g.36622607C>T	(Likely) benign	1 lab	0c94a9b818
X:40489890 CXorf38 G>A	X	40489890	40489890	G	A	CXorf38	c.937C>T	NM_144970.3	NP_659407.1:p.(Gln313Ter)	NC_000023.10:g.40489890G>A	VUS	1 lab	0c951f1338
5:122425971 PRDM6 A>ACCTTCGCCT	5	122425971	122425975	A	ACCTTCGCCT	PRDM6	c.265_266insTCGCCTCCT	NM_001136239.4	NP_001129711.1:p.(Thr88_Ser89insPheAlaSer)	NC_000005.9:g.122425974_122425975insTCGCCTCCT	(Likely) benign	1 lab	0c99318b9a
3:121209142 POLQ A>G	3	121209142	121209142	A	G	POLQ	c.2636T>C	NM_199420.4	NP_955452.3:p.(Ile879Thr)	NC_000003.11:g.121209142A>G	VUS	1 lab	0c9a13c64e
X:19041549 ADGRG2 G>T	X	19041549	19041549	G	T	ADGRG2	c.533C>A	NM_001079858.3	NP_001073327.1:p.(Thr178Lys)	NC_000023.10:g.19041549G>T	VUS	1 lab	0c9ccdc49b
15:99434811 IGF1R G>A	15	99434811	99434811	G	A	IGF1R	c.898G>A	NM_000875.5	NP_000866.1:p.(Asp300Asn)	NC_000015.9:g.99434811G>A	(Likely) benign	1 lab	0c9d2ccc43
12:49443637 KMT2D G>A	12	49443637	49443637	G	A	KMT2D	c.3734C>T	NM_003482.4	NP_003473.3:p.(Ser1245Phe)	NC_000012.11:g.49443637G>A	VUS	1 lab	0c9d4b47c8
19:40748491 AKT2 A>T	19	40748491	40748491	A	T	AKT2	c.391T>A	NM_001626.6	NP_001617.1:p.(Ser131Thr)	NC_000019.9:g.40748491A>T	(Likely) benign	1 lab	0ca268273a
X:122761554 THOC2 T>C	X	122761554	122761554	T	C	THOC2	c.2747A>G	NM_001081550.2	NP_001075019.1:p.(Asn916Ser)	NC_000023.10:g.122761554T>C	VUS	1 lab	19feb2a7c2
X:18690145 RS1 C>T	X	18690145	18690145	C	T	RS1	c.44G>A	NM_000330.4	NP_000321.1:p.(Gly15Asp)	NC_000023.10:g.18690145C>T	(Likely) benign	1 lab	0ca33f2e7a
2:114000300 PAX8 C>T	2	114000300	114000300	C	T	PAX8	c.445G>A	NM_003466.4	NP_003457.1:p.(Ala149Thr)	NC_000002.11:g.114000300C>T	(Likely) benign	1 lab	0ca43f5c91
17:10541557 MYH3 C>T	17	10541557	10541557	C	T	MYH3	c.3532G>A	NM_002470.4	NP_002461.2:p.(Asp1178Asn)	NC_000017.10:g.10541557C>T	VUS	1 lab	0ca45e556c
20:45848966 ZMYND8 G>A	20	45848966	45848966	G	A	ZMYND8	c.3427C>T	NM_001281775.3	NP_001268704.1:p.(Leu1143Phe)	NC_000020.10:g.45848966G>A	VUS	1 lab	0ca5f7bfab
3:49137494 QARS1 C>T	3	49137494	49137494	C	T	QARS1	c.1195G>A	NM_005051.3	NP_005042.1:p.(Glu399Lys)	NC_000003.11:g.49137494C>T	VUS	1 lab	0ca6d3dd2d
10:88441328 LDB3 T>C	10	88441328	88441328	T	C	LDB3	c.457T>C	NM_007078.3	NP_009009.1:p.(Ser153Pro)	NC_000010.10:g.88441328T>C	(Likely) benign	1 lab	0ca7512994
11:64503397 RASGRP2 C>T	11	64503397	64503397	C	T	RASGRP2	c.1151G>A	NM_001098671.2	NP_001092141.1:p.(Arg384Gln)	NC_000011.9:g.64503397C>T	VUS	1 lab	0ca77c5e06
X:14882927 FANCB C>T	X	14882927	14882927	C	T	FANCB	c.706G>A	NM_001018113.3	NP_001018123.1:p.(Val236Met)	NC_000023.10:g.14882927C>T	VUS	1 lab	0ca9fc42df
X:101971062 GPRASP2 C>T	X	101971062	101971062	C	T	GPRASP2	c.1265C>T	NM_001004051.4	NP_001004051.1:p.(Ala422Val)	NC_000023.10:g.101971062C>T	(Likely) benign	1 lab	0caa162fca
13:108861786 LIG4 C>T	13	108861786	108861786	C	T	LIG4	c.1831G>A	NM_206937.2	NP_996820.1:p.(Ala611Thr)	NC_000013.10:g.108861786C>T	(Likely) benign	1 lab	0caa5fdce2
15:90191712 KIF7 C>T	15	90191712	90191712	C	T	KIF7	c.1217G>A	NM_198525.3	NP_940927.2:p.(Gly406Asp)	NC_000015.9:g.90191712C>T	VUS	1 lab	0cacd8fe09
X:63411230 AMER1 C>T	X	63411230	63411230	C	T	AMER1	c.1937G>A	NM_152424.4	NP_689637.3:p.(Arg646Gln)	NC_000023.10:g.63411230C>T	(Likely) benign	1 lab	0cad31f4fc
11:61090560 DDB1 T>C	11	61090560	61090560	T	C	DDB1	c.928A>G	NM_001923.5	NP_001914.3:p.(Ile310Val)	NC_000011.9:g.61090560T>C	VUS	1 lab	0cad564e01
5:135388707 TGFBI A>G	5	135388707	135388707	A	G	TGFBI	c.1025A>G	NM_000358.3	NP_000349.1:p.(Asp342Gly)	NC_000005.9:g.135388707A>G	(Likely) benign	1 lab	0caeb57c5d
17:26887146 PIGS A>G	17	26887146	26887146	A	G	PIGS	c.740T>C	NM_033198.4	NP_149975.1:p.(Ile247Thr)	NC_000017.10:g.26887146A>G	VUS	1 lab	0cafa4dc47
8:97311955 PTDSS1 G>A	8	97311955	97311955	G	A	PTDSS1	c.634G>A	NM_014754.3	NP_055569.1:p.(Glu212Lys)	NC_000008.10:g.97311955G>A	VUS	1 lab	0cb1631feb
15:89801943 FANCI TCTC>T	15	89801943	89801948	TCTC	T	FANCI	c.96_98del	NM_001113378.2	NP_001106849.1:p.(Leu33del)	NC_000015.9:g.89801946_89801948del	VUS	1 lab	0cb2d57b48
8:10469417 RP1L1 C>G	8	10469417	10469417	C	G	RP1L1	c.2191G>C	NM_178857.6	NP_849188.4:p.(Asp731His)	NC_000008.10:g.10469417C>G	(Likely) benign	1 lab	0cb37b78d5
3:119133880 ARHGAP31 C>T	3	119133880	119133880	C	T	ARHGAP31	c.3104C>T	NM_020754.4	NP_065805.2:p.(Thr1035Ile)	NC_000003.11:g.119133880C>T	(Likely) benign	1 lab	0cb48825c4
6:157527821 ARID1B C>T	6	157527821	157527821	C	T	ARID1B	c.5915C>T	NM_001374828.1	NP_001361757.1:p.(Pro1972Leu)	NC_000006.11:g.157527821C>T	(Likely) benign	1 lab	0cb496e364
8:9609296 TNKS G>A	8	9609296	9609296	G	A	TNKS	c.3010G>A	NM_003747.3	NP_003738.2:p.(Val1004Ile)	NC_000008.10:g.9609296G>A	VUS	1 lab	0cb4a2979d
20:2443360 SNRPB T>C	20	2443360	2443360	T	C	SNRPB	c.607A>G	NM_003091.4	NP_003082.1:p.(Met203Val)	NC_000020.10:g.2443360T>C	(Likely) benign	1 lab	0cb73e71e6
1:10238878 UBE4B C>T	1	10238878	10238878	C	T	UBE4B	c.3700+2C>T	NM_001105562.3	NP_001099032.1:p.?	NC_000001.10:g.10238878C>T	(Likely) benign	1 lab	0cb8e4818f
15:78909414 CHRNA3 C>T	15	78909414	78909414	C	T	CHRNA3	c.329G>A	NM_000743.5	NP_000734.2:p.(Arg110His)	NC_000015.9:g.78909414C>T	VUS	1 lab	0cb9c793da
1:200587973 KIF14 G>A	1	200587973	200587973	G	A	KIF14	c.-115-7C>T	NM_014875.3	NP_055690.1:p.?	NC_000001.10:g.200587973G>A	(Likely) benign	1 lab	0cbaa46645
3:197404418 RUBCN A>C	3	197404418	197404418	A	C	RUBCN	c.2431-6T>G	NM_014687.4	NP_055502.1:p.?	NC_000003.11:g.197404418A>C	(Likely) benign	1 lab	0cbc51eff6
2:179529657 TTN G>A	2	179529657	179529657	G	A	TTN	c.36044-4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179529657G>A	(Likely) benign	1 lab	0cbcb3b400
9:131482242 PKN3 GGACGCCCC>G	9	131482242	131482250	GGACGCCCC	G	PKN3	c.2323_2330del	NM_013355.5	NP_037487.2:p.(Asp775LeufsTer11)	NC_000009.11:g.131482243_131482250del	VUS	1 lab	0cbcbc7d76
7:98574253 TRRAP C>G	7	98574253	98574253	C	G	TRRAP	c.8107C>G	NM_001375524.1	NP_001362453.1:p.(Leu2703Val)	NC_000007.13:g.98574253C>G	(Likely) benign	1 lab	0cbe9e8379
10:112771351 SHOC2 A>AT	10	112771351	112771361	A	AT	SHOC2	c.1541-7dup	NM_007373.4	NP_031399.2:p.?	NC_000010.10:g.112771361dup	(Likely) benign	1 lab	0cbf9bffef
12:88487641 CEP290 C>T	12	88487641	88487641	C	T	CEP290	c.3215G>A	NM_025114.4	NP_079390.3:p.(Arg1072Gln)	NC_000012.11:g.88487641C>T	VUS	1 lab	0cbfccde51
3:53126035 RFT1 C>T	3	53126035	53126035	C	T	RFT1	c.1510G>A	NM_052859.4	NP_443091.1:p.(Val504Met)	NC_000003.11:g.53126035C>T	VUS	1 lab	0cc0182e97
16:88788066 PIEZO1 C>T	16	88788066	88788066	C	T	PIEZO1	c.5283G>A	NM_001142864.4	NP_001136336.2:p.(Arg1761=)	NC_000016.9:g.88788066C>T	(Likely) benign	1 lab	0cc01ae355
9:34306386 KIF24 ACT>A	9	34306386	34306390	ACT	A	KIF24	c.675_676del	NM_194313.4	NP_919289.2:p.(Arg225SerfsTer19)	NC_000009.11:g.34306389_34306390del	VUS	1 lab	0cc0506e68
7:6022561 PMS2 T>G	7	6022561	6022561	T	G	PMS2	c.2068A>C	NM_000535.7	NP_000526.2:p.(Lys690Gln)	NC_000007.13:g.6022561T>G	VUS	1 lab	0cc10a845e
6:1611368 FOXC1 A>G	6	1611368	1611368	A	G	FOXC1	c.688A>G	NM_001453.3	NP_001444.2:p.(Asn230Asp)	NC_000006.11:g.1611368A>G	VUS	1 lab	0cd46b434d
19:42863083 MEGF8 G>C	19	42863083	42863083	G	C	MEGF8	c.5320G>C	NM_001271938.2	NP_001258867.1:p.(Glu1774Gln)	NC_000019.9:g.42863083G>C	(Likely) benign	1 lab	0cc16c79ce
19:7174633 INSR C>T	19	7174633	7174633	C	T	INSR	c.1084G>A	NM_000208.4	NP_000199.2:p.(Val362Ile)	NC_000019.9:g.7174633C>T	VUS	1 lab	0cc1728d3e
X:8434338 VCX3B C>G	X	8434338	8434338	C	G	VCX3B	c.655C>G	NM_001001888.4	NP_001001888.3:p.(Gln219Glu)	NC_000023.10:g.8434338C>G	VUS	1 lab	0cc1c34857
4:6303314 WFS1 G>A	4	6303314	6303314	G	A	WFS1	c.1792G>A	NM_006005.3	NP_005996.2:p.(Ala598Thr)	NC_000004.11:g.6303314G>A	(Likely) benign	1 lab	0cc3fd6db8
8:42178343 IKBKB G>T	8	42178343	42178343	G	T	IKBKB	c.1669G>T	NM_001556.3	NP_001547.1:p.(Gly557Trp)	NC_000008.10:g.42178343G>T	VUS	1 lab	0cc41d0ba1
16:89986481 MC1R C>T	16	89986481	89986481	C	T	MC1R	c.815C>T	NM_002386.4	NP_002377.4:p.(Thr272Met)	NC_000016.9:g.89986481C>T	VUS	1 lab	0cc545c02e
6:137147502 PEX7 C>A	6	137147502	137147502	C	A	PEX7	c.234C>A	NM_000288.4	NP_000279.1:p.(Asn78Lys)	NC_000006.11:g.137147502C>A	(Likely) benign	1 lab	0cc69fb771
16:23614850 PALB2 C>T	16	23614850	23614850	C	T	PALB2	c.3491G>A	NM_024675.4	NP_078951.2:p.(Trp1164Ter)	NC_000016.9:g.23614850C>T	(Likely) pathogenic	1 lab	0cc7328f56
X:140994008 MAGEC1 GCCC>G	X	140994008	140994012	GCCC	G	MAGEC1	c.820_822del	NM_005462.5	NP_005453.2:p.(Pro274del)	NC_000023.10:g.140994010_140994012del	(Likely) benign	1 lab	0cc8a46189
5:160753491 GABRB2 G>C	5	160753491	160753491	G	C	GABRB2	c.1078-3C>G	NM_001371727.1	NP_001358656.1:p.?	NC_000005.9:g.160753491G>C	VUS	1 lab	0cca987c90
2:47702421 MSH2 G>C	2	47702421	47702421	G	C	MSH2	c.2005+12G>C	NM_000251.3	NP_000242.1:p.?	NC_000002.11:g.47702421G>C	VUS	1 lab	2e39cc0071
2:39405801 CDKL4 T>A	2	39405801	39405801	T	A	CDKL4	c.927+527A>T	NM_001397900.1	NP_001384829.1:p.?	NC_000002.11:g.39405801T>A	(Likely) benign	1 lab	0ccb7fe9d3
17:3386830 ASPA T>C	17	3386830	3386830	T	C	ASPA	c.470T>C	NM_000049.4	NP_000040.1:p.(Ile157Thr)	NC_000017.10:g.3386830T>C	VUS	1 lab	0cd71588ac
5:38496637 LIFR C>T	5	38496637	38496637	C	T	LIFR	c.1732G>A	NM_001127671.2	NP_001121143.1:p.(Asp578Asn)	NC_000005.9:g.38496637C>T	(Likely) benign	1 lab	0ccc30d6ef
22:18898414 DGCR6 G>A	22	18898414	18898414	G	A	DGCR6	c.386G>A	NM_005675.6	NP_005666.2:p.(Arg129Gln)	NC_000022.10:g.18898414G>A	VUS	1 lab	0ccc99538f
20:44582458 ZNF335 C>T	20	44582458	44582458	C	T	ZNF335	c.2572G>A	NM_022095.4	NP_071378.1:p.(Glu858Lys)	NC_000020.10:g.44582458C>T	VUS	1 lab	0ccf79f7b4
21:38536365 TTC3 A>C	21	38536365	38536365	A	C	TTC3	c.3183A>C	NM_001330683.2	NP_001317612.1:p.(Ser1061=)	NC_000021.8:g.38536365A>C	VUS	1 lab	0ccfcf9157
11:108106400 ATM C>T	11	108106400	108106400	C	T	ATM	c.335C>T	NM_000051.4	NP_000042.3:p.(Ala112Val)	NC_000011.9:g.108106400C>T	VUS	1 lab	0cd09443b9
7:299834 FAM20C G>A	7	299834	299834	G	A	FAM20C	c.1643G>A	NM_020223.4	NP_064608.2:p.(Arg548Gln)	NC_000007.13:g.299834G>A	VUS	1 lab	0cd0fc400f
19:54652189 CNOT3 G>A	19	54652189	54652189	G	A	CNOT3	c.1201G>A	NM_014516.4	NP_055331.1:p.(Gly401Ser)	NC_000019.9:g.54652189G>A	(Likely) benign	1 lab	0cd1c88394
17:39913772 JUP G>A	17	39913772	39913772	G	A	JUP	c.1941C>T	NM_021991.2	NP_068831.1:p.(Ala647=)	NC_000017.10:g.39913772G>A	(Likely) benign	1 lab	1a703b4e9c
16:2809575 SRRM2 G>T	16	2809575	2809575	G	T	SRRM2	c.746G>T	NM_016333.4	NP_057417.3:p.(Arg249Leu)	NC_000016.9:g.2809575G>T	VUS	1 lab	0cd334bc38
2:128347689 MYO7B C>A	2	128347689	128347689	C	A	MYO7B	c.1877C>A	NM_001393586.1	NP_001380515.1:p.(Pro626His)	NC_000002.11:g.128347689C>A	(Likely) benign	1 lab	0cd3824cc6
X:109696543 RTL9 C>T	X	109696543	109696543	C	T	RTL9	c.2698C>T	NM_001385449.1	NP_001372378.1:p.(Pro900Ser)	NC_000023.10:g.109696543C>T	(Likely) benign	1 lab	0cd3b4037f
1:43890538 SZT2 G>A	1	43890538	43890538	G	A	SZT2	c.2550+5G>A	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43890538G>A	(Likely) benign	1 lab	0cd44095f7
17:42992485 GFAP G>T	17	42992485	42992485	G	T	GFAP	c.370C>A	NM_002055.5	NP_002046.1:p.(Arg124=)	NC_000017.10:g.42992485G>T	VUS	1 lab	0cd8e27fcf
4:982879 SLC26A1 G>A	4	982879	982879	G	A	SLC26A1	c.1848C>T	NM_213613.4	NP_998778.1:p.(Cys616=)	NC_000004.11:g.982879G>A	(Likely) benign	1 lab	1a74493adc
22:24313788 DDT C>T	22	24313788	24313788	C	T	DDT	c.309G>A	NM_001084392.3	NP_001077861.1:p.(Leu103=)	NC_000022.10:g.24313788C>T	VUS	1 lab	0cdbce1398
19:13441061 CACNA1A C>A	19	13441061	13441061	C	A	CACNA1A	c.1342G>T	NM_001127222.2	NP_001120694.1:p.(Val448Leu)	NC_000019.9:g.13441061C>A	VUS	1 lab	0cdcc16e42
16:30102406 TBX6 G>A	16	30102406	30102406	G	A	TBX6	c.109C>T	NM_004608.4	NP_004599.2:p.(Arg37Cys)	NC_000016.9:g.30102406G>A	(Likely) benign	1 lab	0cdd3374ac
14:45431929 TOGARAM1 T>A	14	45431929	45431929	T	A	TOGARAM1	c.305T>A	NM_001308120.2	NP_001295049.1:p.(Leu102His)	NC_000014.8:g.45431929T>A	VUS	1 lab	0cddce26fb
X:6451899 VCX3A C>T	X	6451899	6451899	C	T	VCX3A	c.448G>A	NM_016379.4	NP_057463.2:p.(Val150Met)	NC_000023.10:g.6451899C>T	VUS	1 lab	0cdf931649
13:51530586 RNASEH2B TAAAA>T	13	51530586	51530596	TAAAA	T	RNASEH2B	c.922_925del	NM_024570.4	NP_078846.2:p.(Lys308LeufsTer26)	NC_000013.10:g.51530593_51530596del	(Likely) benign	1 lab	0ce1978467
3:48618776 COL7A1 G>A	3	48618776	48618776	G	A	COL7A1	c.4819-3C>T	NM_000094.4	NP_000085.1:p.?	NC_000003.11:g.48618776G>A	(Likely) benign	1 lab	0ce39aff51
8:100887761 VPS13B C>T	8	100887761	100887761	C	T	VPS13B	c.11861C>T	NM_152564.5	NP_689777.3:p.(Pro3954Leu)	NC_000008.10:g.100887761C>T	(Likely) benign	1 lab	0ce49396b2
12:420118 KDM5A G>C	12	420118	420118	G	C	KDM5A	c.3149C>G	NM_001042603.3	NP_001036068.1:p.(Ala1050Gly)	NC_000012.11:g.420118G>C	VUS	1 lab	0ce51df201
X:119070252 NKAP G>A	X	119070252	119070252	G	A	NKAP	c.673+8C>T	NM_024528.4	NP_078804.2:p.?	NC_000023.10:g.119070252G>A	(Likely) benign	1 lab	0ce57abb1c
2:16082123 MYCN AC>A	2	16082123	16082128	AC	A	MYCN	c.-59del	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16082128del	VUS	1 lab	0ce5b5c246
X:153599529 FLNA G>C	X	153599529	153599529	G	C	FLNA	c.85C>G	NM_001110556.2	NP_001104026.1:p.(Pro29Ala)	NC_000023.10:g.153599529G>C	VUS	1 lab	0ce62a4b43
10:5498713 NET1 C>T	10	5498713	5498713	C	T	NET1	c.1547C>T	NM_001047160.3	NP_001040625.1:p.(Pro516Leu)	NC_000010.10:g.5498713C>T	(Likely) benign	1 lab	0ce99b8d76
6:99951748 USP45 A>T	6	99951748	99951748	A	T	USP45	c.378-7T>A	NM_001346022.3	NP_001332951.1:p.?	NC_000006.11:g.99951748A>T	(Likely) benign	1 lab	0ce9dc29e8
6:33694682 IP6K3 G>T	6	33694682	33694682	G	T	IP6K3	c.415C>A	NM_054111.5	NP_473452.2:p.(Pro139Thr)	NC_000006.11:g.33694682G>T	VUS	1 lab	0ceaa260cd
1:201177370 IGFN1 C>A	1	201177370	201177370	C	A	IGFN1	c.3349C>A	NM_001164586.2	NP_001158058.1:p.(Pro1117Thr)	NC_000001.10:g.201177370C>A	(Likely) benign	1 lab	0cebe0debd
11:17449853 ABCC8 C>T	11	17449853	17449853	C	T	ABCC8	c.2023G>A	NM_000352.6	NP_000343.2:p.(Asp675Asn)	NC_000011.9:g.17449853C>T	VUS	1 lab	0cee2c9e81
15:50769658 USP8 A>G	15	50769658	50769658	A	G	USP8	c.1180A>G	NM_005154.5	NP_005145.3:p.(Ile394Val)	NC_000015.9:g.50769658A>G	(Likely) benign	1 lab	0cef1b1aba
1:10383932 KIF1B T>C	1	10383932	10383932	T	C	KIF1B	c.2359-10T>C	NM_001365951.3	NP_001352880.1:p.?	NC_000001.10:g.10383932T>C	(Likely) benign	1 lab	0cef50a2f2
17:42942421 EFTUD2 C>T	17	42942421	42942421	C	T	EFTUD2	c.1162G>A	NM_004247.4	NP_004238.3:p.(Val388Met)	NC_000017.10:g.42942421C>T	VUS	1 lab	0cf07396e1
7:98606150 TRRAP C>T	7	98606150	98606150	C	T	TRRAP	c.10904C>T	NM_001375524.1	NP_001362453.1:p.(Thr3635Met)	NC_000007.13:g.98606150C>T	VUS	1 lab	0cf09b34d0
1:110235888 GSTM1 T>A	1	110235888	110235888	T	A	GSTM1	c.628T>A	NM_000561.4	NP_000552.2:p.(Ser210Thr)	NC_000001.10:g.110235888T>A	(Likely) benign	1 lab	0cf0a09382
7:44268438 CAMK2B CG>C	7	44268438	44268443	CG	C	CAMK2B	c.1424del	NM_001220.5	NP_001211.3:p.(Pro475ArgfsTer9)	NC_000007.13:g.44268443del	VUS	1 lab	0cf47acc32
14:95235437 GSC C>G	14	95235437	95235437	C	G	GSC	c.473G>C	NM_173849.3	NP_776248.1:p.(Arg158Pro)	NC_000014.8:g.95235437C>G	VUS	1 lab	0cf5ce4818
16:28846515 ATXN2L C>T	16	28846515	28846515	C	T	ATXN2L	c.2563+7C>T	NM_007245.4	NP_009176.2:p.?	NC_000016.9:g.28846515C>T	(Likely) benign	1 lab	0cf6cbc721
10:119043053 PDZD8 G>A	10	119043053	119043053	G	A	PDZD8	c.3191C>T	NM_173791.5	NP_776152.1:p.(Thr1064Ile)	NC_000010.10:g.119043053G>A	VUS	1 lab	0cf8381b3c
7:2644537 IQCE C>G	7	2644537	2644537	C	G	IQCE	c.1655C>G	NM_152558.5	NP_689771.3:p.(Ala552Gly)	NC_000007.13:g.2644537C>G	(Likely) benign	1 lab	0d01e88c34
12:120662167 PXN C>T	12	120662167	120662167	C	T	PXN	c.27G>A	NM_001385981.1	NP_001372910.1:p.(Ala9=)	NC_000012.11:g.120662167C>T	(Likely) benign	1 lab	0d022afa83
19:18899202 COMP G>T	19	18899202	18899202	G	T	COMP	c.867+17C>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899202G>T	(Likely) benign	1 lab	0d0263d4a2
8:145669668 TONSL G>A	8	145669668	145669668	G	A	TONSL	c.26-10C>T	NM_013432.5	NP_038460.4:p.?	NC_000008.10:g.145669668G>A	(Likely) benign	1 lab	0d029f802f
X:3021866 ARSF G>A	X	3021866	3021866	G	A	ARSF	c.1166G>A	NM_001201539.2	NP_001188468.1:p.(Gly389Glu)	NC_000023.10:g.3021866G>A	VUS	1 lab	0d036ad4a5
6:51907929 PKHD1 C>G	6	51907929	51907929	C	G	PKHD1	c.2825G>C	NM_138694.4	NP_619639.3:p.(Gly942Ala)	NC_000006.11:g.51907929C>G	VUS	1 lab	0d047e2569
16:89592848 SPG7 T>G	16	89592848	89592848	T	G	SPG7	c.730T>G	NM_003119.4	NP_003110.1:p.(Ser244Ala)	NC_000016.9:g.89592848T>G	VUS	1 lab	0d069c5567
12:106820972 POLR3B TA>T	12	106820972	106820973	TA	T	POLR3B	c.1102-2del	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106820973del	(Likely) benign	1 lab	0d07f416a4
15:90177099 KIF7 T>G	15	90177099	90177099	T	G	KIF7	c.2410A>C	NM_198525.3	NP_940927.2:p.(Lys804Gln)	NC_000015.9:g.90177099T>G	(Likely) benign	1 lab	0d082a2473
17:48227397 PPP1R9B G>A	17	48227397	48227397	G	A	PPP1R9B	c.480C>T	NM_032595.5	NP_115984.3:p.(Gly160=)	NC_000017.10:g.48227397G>A	VUS	1 lab	0d0905e001
22:51159238 SHANK3 C>A	22	51159238	51159238	C	A	SHANK3	c.3202C>A	NM_001372044.2	NP_001358973.1:p.(Arg1068Ser)	NC_000022.10:g.51159238C>A	VUS	1 lab	0d09edbdb3
1:152325186 FLG2 A>T	1	152325186	152325186	A	T	FLG2	c.5076T>A	NM_001014342.3	NP_001014364.1:p.(His1692Gln)	NC_000001.10:g.152325186A>T	(Likely) benign	1 lab	0d0ab78044
15:44038880 PDIA3 T>C	15	44038880	44038880	T	C	PDIA3	c.143T>C	NM_005313.5	NP_005304.3:p.(Met48Thr)	NC_000015.9:g.44038880T>C	(Likely) benign	1 lab	0d0d27dfc6
2:179432742 TTN C>G	2	179432742	179432742	C	G	TTN	c.78117G>C	NM_001267550.2	NP_001254479.2:p.(Lys26039Asn)	NC_000002.11:g.179432742C>G	VUS	1 lab	0d0f68588d
19:13341436 CACNA1A T>C	19	13341436	13341436	T	C	CACNA1A	c.5401-413A>G	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13341436T>C	(Likely) benign	1 lab	0d116e1549
11:46918521 LRP4 T>C	11	46918521	46918521	T	C	LRP4	c.821A>G	NM_002334.4	NP_002325.2:p.(Gln274Arg)	NC_000011.9:g.46918521T>C	VUS	1 lab	0d1175a4a4
9:37746486 FRMPD1 T>C	9	37746486	37746486	T	C	FRMPD1	c.4457T>C	NM_014907.3	NP_055722.2:p.(Met1486Thr)	NC_000009.11:g.37746486T>C	(Likely) benign	1 lab	0d12921ac9
4:149357733 NR3C2 A>G	4	149357733	149357733	A	G	NR3C2	c.280T>C	NM_000901.5	NP_000892.2:p.(Ser94Pro)	NC_000004.11:g.149357733A>G	VUS	1 lab	0d12f53165
12:48249536 VDR T>C	12	48249536	48249536	T	C	VDR	c.632A>G	NM_000376.3	NP_000367.1:p.(Asp211Gly)	NC_000012.11:g.48249536T>C	VUS	1 lab	0d1347c70b
1:36934805 CSF3R C>G	1	36934805	36934805	C	G	CSF3R	c.1528G>C	NM_000760.4	NP_000751.1:p.(Asp510His)	NC_000001.10:g.36934805C>G	(Likely) benign	1 lab	0d13a1cffa
15:60789773 RORA T>C	15	60789773	60789773	T	C	RORA	c.1453A>G	NM_134261.3	NP_599023.1:p.(Thr485Ala)	NC_000015.9:g.60789773T>C	(Likely) benign	1 lab	0d13f0112e
12:96371767 HAL A>G	12	96371767	96371767	A	G	HAL	c.1609T>C	NM_002108.4	NP_002099.1:p.(Trp537Arg)	NC_000012.11:g.96371767A>G	VUS	1 lab	0d15ded825
5:110096917 SLC25A46 G>A	5	110096917	110096917	G	A	SLC25A46	c.692G>A	NM_138773.4	NP_620128.1:p.(Arg231Gln)	NC_000005.9:g.110096917G>A	VUS	1 lab	0d1608b999
3:172165565 GHSR C>T	3	172165565	172165565	C	T	GHSR	c.639G>A	NM_198407.2	NP_940799.1:p.(Met213Ile)	NC_000003.11:g.172165565C>T	VUS	1 lab	0d163db8a9
12:80658873 OTOGL C>T	12	80658873	80658873	C	T	OTOGL	c.2107C>T	NM_001378609.3	NP_001365538.2:p.(Arg703Cys)	NC_000012.11:g.80658873C>T	VUS	1 lab	0d166038b7
16:89762170 CDK10 G>A	16	89762170	89762170	G	A	CDK10	c.*70G>A	NM_052988.5	NP_443714.3:p.?	NC_000016.9:g.89762170G>A	(Likely) benign	1 lab	0d168e9087
16:30990507 SETD1A C>T	16	30990507	30990507	C	T	SETD1A	c.3400C>T	NM_014712.3	NP_055527.1:p.(Pro1134Ser)	NC_000016.9:g.30990507C>T	VUS	1 lab	0d1960a5c3
1:94650420 ARHGAP29 T>C	1	94650420	94650420	T	C	ARHGAP29	c.2109+8A>G	NM_004815.4	NP_004806.3:p.?	NC_000001.10:g.94650420T>C	(Likely) benign	1 lab	0d1d157f58
19:42365183 RPS19 C>G	19	42365183	42365183	C	G	RPS19	c.74C>G	NM_001022.4	NP_001013.1:p.(Ser25Cys)	NC_000019.9:g.42365183C>G	(Likely) benign	1 lab	0d1d58bbbb
11:17418444 ABCC8 G>A	11	17418444	17418444	G	A	ABCC8	c.4119+19C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17418444G>A	(Likely) benign	1 lab	0d1e2d1c0b
3:58042049 FLNB C>T	3	58042049	58042049	C	T	FLNB	c.293-20724C>T	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58042049C>T	(Likely) benign	1 lab	0d1eb2a23e
5:180053236 FLT4 C>G	5	180053236	180053236	C	G	FLT4	c.1133G>C	NM_182925.5	NP_891555.2:p.(Arg378Pro)	NC_000005.9:g.180053236C>G	VUS	1 lab	0d1ed61797
5:37026393 NIPBL A>C	5	37026393	37026393	A	C	NIPBL	c.5772A>C	NM_133433.4	NP_597677.2:p.(Glu1924Asp)	NC_000005.9:g.37026393A>C	(Likely) benign	1 lab	0d1ed6bc00
15:89383273 ACAN C>CA	15	89383273	89383274	C	CA	ACAN	c.486dup	NM_001369268.1	NP_001356197.1:p.(Arg163ThrfsTer7)	NC_000015.9:g.89383274dup	(Likely) pathogenic	1 lab	0d200a24bb
17:4356460 SPNS3 T>G	17	4356460	4356460	T	G	SPNS3	c.1073T>G	NM_182538.5	NP_872344.3:p.(Leu358Arg)	NC_000017.10:g.4356460T>G	VUS	1 lab	0d234c48d8
11:17415814 ABCC8 G>A	11	17415814	17415814	G	A	ABCC8	c.4544C>T	NM_000352.6	NP_000343.2:p.(Thr1515Met)	NC_000011.9:g.17415814G>A	VUS	1 lab	0d236c32df
11:128651866 FLI1 C>T	11	128651866	128651866	C	T	FLI1	c.603C>T	NM_002017.5	NP_002008.2:p.(Ala201=)	NC_000011.9:g.128651866C>T	(Likely) benign	1 lab	0d2438fc86
11:60889260 CD5 G>A	11	60889260	60889260	G	A	CD5	c.983G>A	NM_014207.4	NP_055022.2:p.(Arg328Gln)	NC_000011.9:g.60889260G>A	VUS	1 lab	0d244cb62d
11:1628942 KRTAP5-3 T>A	11	1628942	1628942	T	A	KRTAP5-3	c.674A>T	NM_001012708.2	NP_001012726.1:p.(Gln225Leu)	NC_000011.9:g.1628942T>A	(Likely) benign	1 lab	0d250340c0
3:193409899 OPA1 C>T	3	193409899	193409899	C	T	OPA1	c.3031C>T	NM_130837.3	NP_570850.2:p.(Leu1011Phe)	NC_000003.11:g.193409899C>T	VUS	1 lab	0d25174cd4
3:49884992 TRAIP T>C	3	49884992	49884992	T	C	TRAIP	c.206A>G	NM_005879.3	NP_005870.2:p.(Glu69Gly)	NC_000003.11:g.49884992T>C	VUS	1 lab	0d274ce670
19:11325234 DOCK6 C>T	19	11325234	11325234	C	T	DOCK6	c.4198G>A	NM_020812.4	NP_065863.2:p.(Val1400Met)	NC_000019.9:g.11325234C>T	VUS	1 lab	0d279ab1f7
X:100105206 NOX1 C>T	X	100105206	100105206	C	T	NOX1	c.1067G>A	NM_007052.5	NP_008983.2:p.(Arg356Gln)	NC_000023.10:g.100105206C>T	VUS	1 lab	0d28585881
11:57506504 TMX2 AGTACGCGGTATGTAAAGACCT>A	11	57506504	57506526	AGTACGCGGTATGTAAAGACCT	A	TMX2	c.609_614+15del	NM_015959.4	NP_057043.1:p.?	NC_000011.9:g.57506506_57506526del	VUS	1 lab	0d2888d2f1
13:23894766 SGCG C>T	13	23894766	23894766	C	T	SGCG	c.579-10C>T	NM_000231.3	NP_000222.2:p.?	NC_000013.10:g.23894766C>T	(Likely) benign	1 lab	0d2912043a
22:21064983 PI4KA T>G	22	21064983	21064983	T	G	PI4KA	c.6083+4A>C	NM_058004.4	NP_477352.3:p.?	NC_000022.10:g.21064983T>G	VUS	1 lab	0d29eca46e
3:49458983 AMT C>T	3	49458983	49458983	C	T	AMT	c.281G>A	NM_000481.4	NP_000472.2:p.(Arg94Gln)	NC_000003.11:g.49458983C>T	VUS	1 lab	0d2ddacf21
X:134711265 INTS6L A>T	X	134711265	134711265	A	T	INTS6L	c.2032A>T	NM_001351601.3	NP_001338530.1:p.(Thr678Ser)	NC_000023.10:g.134711265A>T	(Likely) benign	1 lab	0d2ee8e9d7
5:176562366 NSD1 A>C	5	176562366	176562366	A	C	NSD1	c.262A>C	NM_022455.5	NP_071900.2:p.(Asn88His)	NC_000005.9:g.176562366A>C	(Likely) benign	1 lab	0d30c1f522
13:39263023 FREM2 C>T	13	39263023	39263023	C	T	FREM2	c.1542C>T	NM_207361.6	NP_997244.4:p.(Ala514=)	NC_000013.10:g.39263023C>T	(Likely) benign	1 lab	1a74760c05
2:48030765 MSH6 GCC>G	2	48030765	48030767	GCC	G	MSH6	c.3380_3381del	NM_000179.3	NP_000170.1:p.(Ala1127ValfsTer36)	NC_000002.11:g.48030766_48030767del	(Likely) pathogenic	1 lab	0d33d79208
3:20225528 SGO1 T>C	3	20225528	20225528	T	C	SGO1	c.-7-2A>G	NM_001199251.3	NP_001186180.1:p.?	NC_000003.11:g.20225528T>C	VUS	1 lab	0d34412708
16:70292878 AARS1 C>T	16	70292878	70292878	C	T	AARS1	c.1992+5G>A	NM_001605.3	NP_001596.2:p.?	NC_000016.9:g.70292878C>T	VUS	1 lab	0d34bcdeae
1:151400506 POGZ G>A	1	151400506	151400506	G	A	POGZ	c.871C>T	NM_015100.4	NP_055915.2:p.(Pro291Ser)	NC_000001.10:g.151400506G>A	(Likely) benign	1 lab	0d3601c085
1:152283089 FLG CTT>C	1	152283089	152283092	CTT	C	FLG	c.4271_4272del	NM_002016.2	NP_002007.1:p.(Lys1424ArgfsTer25)	NC_000001.10:g.152283091_152283092del	(Likely) pathogenic	1 lab	0d36b6aa61
17:76567122 DNAH17 G>A	17	76567122	76567122	G	A	DNAH17	c.833-7C>T	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76567122G>A	(Likely) benign	1 lab	0d36beea33
16:12145699 SNX29 G>T	16	12145699	12145699	G	T	SNX29	c.749-5G>T	NM_032167.5	NP_115543.3:p.?	NC_000016.9:g.12145699G>T	(Likely) benign	1 lab	0d390753b1
12:133226435 POLE C>T	12	133226435	133226435	C	T	POLE	c.3623G>A	NM_006231.4	NP_006222.2:p.(Ser1208Asn)	NC_000012.11:g.133226435C>T	VUS	1 lab	0d3bab5c55
9:19049767 RRAGA G>T	9	19049767	19049767	G	T	RRAGA	c.110G>T	NM_006570.5	NP_006561.1:p.(Arg37Leu)	NC_000009.11:g.19049767G>T	VUS	1 lab	0d3ecf34b9
16:53672272 RPGRIP1L G>A	16	53672272	53672272	G	A	RPGRIP1L	c.3010C>T	NM_015272.5	NP_056087.2:p.(His1004Tyr)	NC_000016.9:g.53672272G>A	VUS	1 lab	1a081762d2
6:102134227 GRIK2 C>T	6	102134227	102134227	C	T	GRIK2	c.950C>T	NM_021956.5	NP_068775.1:p.(Thr317Met)	NC_000006.11:g.102134227C>T	VUS	1 lab	0d404e7065
9:14150140 NFIB G>A	9	14150140	14150140	G	A	NFIB	c.806+4C>T	NM_001190737.2	NP_001177666.1:p.?	NC_000009.11:g.14150140G>A	(Likely) benign	1 lab	0d4077e5c9
20:35882716 GHRH G>A	20	35882716	35882716	G	A	GHRH	c.205C>T	NM_021081.6	NP_066567.1:p.(Arg69Ter)	NC_000020.10:g.35882716G>A	VUS	1 lab	0d4105aa94
3:49094811 QRICH1 G>GC	3	49094811	49094814	G	GC	QRICH1	c.821dup	NM_198880.3	NP_942581.1:p.(Gln275ProfsTer29)	NC_000003.11:g.49094814dup	(Likely) pathogenic	1 lab	0d4132ad07
4:100504649 MTTP C>T	4	100504649	100504649	C	T	MTTP	c.368C>T	NM_000253.4	NP_000244.2:p.(Thr123Met)	NC_000004.11:g.100504649C>T	(Likely) benign	1 lab	1a08636820
5:112177310 APC T>C	5	112177310	112177310	T	C	APC	c.6019T>C	NM_000038.6	NP_000029.2:p.(Tyr2007His)	NC_000005.9:g.112177310T>C	VUS	1 lab	0d450d2693
17:1583071 PRPF8 T>G	17	1583071	1583071	T	G	PRPF8	c.1121A>C	NM_006445.4	NP_006436.3:p.(Asp374Ala)	NC_000017.10:g.1583071T>G	VUS	1 lab	0d4595c64f
X:119388906 ZBTB33 G>A	X	119388906	119388906	G	A	ZBTB33	c.1636G>A	NM_001184742.2	NP_001171671.1:p.(Gly546Arg)	NC_000023.10:g.119388906G>A	VUS	1 lab	0d4675d773
11:678798 DEAF1 G>A	11	678798	678798	G	A	DEAF1	c.1151C>T	NM_021008.4	NP_066288.2:p.(Pro384Leu)	NC_000011.9:g.678798G>A	VUS	1 lab	0d4770e95a
19:7600724 PNPLA6 TG>T	19	7600724	7600726	TG	T	PNPLA6	c.52del	NM_001166114.2	NP_001159586.1:p.(Ala18ArgfsTer35)	NC_000019.9:g.7600726del	VUS	1 lab	0d4ef94309
20:34022234 GDF5 G>C	20	34022234	34022234	G	C	GDF5	c.979C>G	NM_000557.5	NP_000548.2:p.(Leu327Val)	NC_000020.10:g.34022234G>C	(Likely) benign	1 lab	0d50775a40
8:144992024 PLEC C>T	8	144992024	144992024	C	T	PLEC	c.11965G>A	NM_201384.3	NP_958786.1:p.(Glu3989Lys)	NC_000008.10:g.144992024C>T	VUS	1 lab	0d50830406
8:125072527 FER1L6 T>G	8	125072527	125072527	T	G	FER1L6	c.2981T>G	NM_001039112.2	NP_001034201.2:p.(Val994Gly)	NC_000008.10:g.125072527T>G	(Likely) benign	1 lab	0d50d03a10
7:117250687 CFTR C>T	7	117250687	117250687	C	T	CFTR	c.3103C>T	NM_000492.4	NP_000483.3:p.(Gln1035Ter)	NC_000007.13:g.117250687C>T	(Likely) pathogenic	1 lab	1a0d317566
12:50453661 ASIC1 C>T	12	50453661	50453661	C	T	ASIC1	c.482C>T	NM_001095.4	NP_001086.2:p.(Ala161Val)	NC_000012.11:g.50453661C>T	VUS	1 lab	0d531d057c
2:86338249 PTCD3 G>A	2	86338249	86338249	G	A	PTCD3	c.208G>A	NM_017952.6	NP_060422.4:p.(Val70Ile)	NC_000002.11:g.86338249G>A	(Likely) benign	1 lab	0d55808938
13:22246235 FGF9 A>G	13	22246235	22246235	A	G	FGF9	c.184A>G	NM_002010.3	NP_002001.1:p.(Arg62Gly)	NC_000013.10:g.22246235A>G	(Likely) pathogenic	1 lab	0d56259bfa
15:33876607 RYR3 C>T	15	33876607	33876607	C	T	RYR3	c.1585C>T	NM_001036.6	NP_001027.3:p.(Arg529Cys)	NC_000015.9:g.33876607C>T	(Likely) benign	1 lab	0d56f84bb4
15:48892435 FBN1 G>T	15	48892435	48892435	G	T	FBN1	c.347-4C>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48892435G>T	VUS	1 lab	0d56fc2fcb
21:46875500 COL18A1 C>T	21	46875500	46875500	C	T	COL18A1	c.107-12656C>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46875500C>T	(Likely) benign	1 lab	0d5a91f4c6
22:18561171 PEX26 C>T	22	18561171	18561171	C	T	PEX26	c.29C>T	NM_001127649.3	NP_001121121.1:p.(Ala10Val)	NC_000022.10:g.18561171C>T	VUS	1 lab	0d5c79cc76
2:32724897 BIRC6 C>T	2	32724897	32724897	C	T	BIRC6	c.8752C>T	NM_016252.4	NP_057336.3:p.(Leu2918Phe)	NC_000002.11:g.32724897C>T	VUS	1 lab	0d5d634aad
3:47777588 SMARCC1 T>C	3	47777588	47777588	T	C	SMARCC1	c.512A>G	NM_003074.4	NP_003065.3:p.(Tyr171Cys)	NC_000003.11:g.47777588T>C	(Likely) benign	1 lab	0d5de49c1b
X:79942370 BRWD3 AAAG>A	X	79942370	79942377	AAAG	A	BRWD3	c.3994_3996del	NM_153252.5	NP_694984.5:p.(Leu1332del)	NC_000023.10:g.79942375_79942377del	VUS	1 lab	0d5e15c770
19:15303259 NOTCH3 C>T	19	15303259	15303259	C	T	NOTCH3	c.269G>A	NM_000435.3	NP_000426.2:p.(Arg90His)	NC_000019.9:g.15303259C>T	VUS	1 lab	0d5e270252
17:42288312 UBTF C>T	17	42288312	42288312	C	T	UBTF	c.1207G>A	NM_014233.4	NP_055048.1:p.(Gly403Ser)	NC_000017.10:g.42288312C>T	VUS	1 lab	0d5ed695df
X:133981508 PABIR3 A>G	X	133981508	133981508	A	G	PABIR3	c.438+3A>G	NM_001388447.1	NP_001375376.1:p.?	NC_000023.10:g.133981508A>G	(Likely) benign	1 lab	0d5f74fa90
16:85722504 GINS2 T>C	16	85722504	85722504	T	C	GINS2	c.1A>G	NM_016095.3	NP_057179.1:p.(Met1?)	NC_000016.9:g.85722504T>C	VUS	1 lab	0d5f8312d0
3:101390043 ZBTB11 C>T	3	101390043	101390043	C	T	ZBTB11	c.709G>A	NM_014415.4	NP_055230.2:p.(Glu237Lys)	NC_000003.11:g.101390043C>T	VUS	1 lab	0d6210715f
X:138724628 MCF2 G>A	X	138724628	138724628	G	A	MCF2	c.231+3099C>T	NM_001171876.2	NP_001165347.1:p.?	NC_000023.10:g.138724628G>A	(Likely) benign	1 lab	0d62a62d1c
5:140896509 DIAPH1 A>G	5	140896509	140896509	A	G	DIAPH1	c.3728T>C	NM_005219.5	NP_005210.3:p.(Met1243Thr)	NC_000005.9:g.140896509A>G	VUS	1 lab	0d63bf41f6
10:78785210 KCNMA1 C>T	10	78785210	78785210	C	T	KCNMA1	c.1928+2371G>A	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78785210C>T	(Likely) benign	1 lab	0d648c94eb
X:13775768 OFD1 TACC>T	X	13775768	13775771	TACC	T	OFD1	c.1412-10_1412-8del	NM_003611.3	NP_003602.1:p.?	NC_000023.10:g.13775769_13775771del	(Likely) benign	1 lab	0d66dbc2f6
17:5342377 C1QBP C>A	17	5342377	5342377	C	A	C1QBP	c.17G>T	NM_001212.4	NP_001203.1:p.(Arg6Leu)	NC_000017.10:g.5342377C>A	(Likely) benign	1 lab	0d670e21dc
1:46685735 LURAP1 C>T	1	46685735	46685735	C	T	LURAP1	c.563C>T	NM_001013615.3	NP_001013633.1:p.(Ala188Val)	NC_000001.10:g.46685735C>T	VUS	1 lab	0d69f00e31
16:22271846 EEF2K AC>A	16	22271846	22271848	AC	A	EEF2K	c.1297del	NM_013302.5	NP_037434.2:p.(Arg433GlyfsTer51)	NC_000016.9:g.22271848del	VUS	1 lab	0d6b86b56f
1:11918415 NPPB C>A	1	11918415	11918415	C	A	NPPB	c.244G>T	NM_002521.3	NP_002512.1:p.(Val82Leu)	NC_000001.10:g.11918415C>A	(Likely) benign	1 lab	0d6c194b91
19:42880439 MEGF8 C>T	19	42880439	42880439	C	T	MEGF8	c.8050C>T	NM_001271938.2	NP_001258867.1:p.(Arg2684Trp)	NC_000019.9:g.42880439C>T	VUS	1 lab	0d6d6fe287
2:196825027 DNAH7 T>C	2	196825027	196825027	T	C	DNAH7	c.2848A>G	NM_018897.3	NP_061720.2:p.(Met950Val)	NC_000002.11:g.196825027T>C	(Likely) benign	1 lab	0d6edb5f43
5:74807037 CERT1 G>A	5	74807037	74807037	G	A	CERT1	c.-5C>T	NM_001379029.1	NP_001365958.1:p.?	NC_000005.9:g.74807037G>A	(Likely) benign	1 lab	0d6f426858
1:87538706 HS2ST1 G>A	1	87538706	87538706	G	A	HS2ST1	c.214G>A	NM_012262.4	NP_036394.1:p.(Glu72Lys)	NC_000001.10:g.87538706G>A	(Likely) benign	1 lab	0d702853ae
1:176564299 PAPPA2 G>A	1	176564299	176564299	G	A	PAPPA2	c.1559G>A	NM_020318.3	NP_064714.2:p.(Arg520Gln)	NC_000001.10:g.176564299G>A	VUS	1 lab	0d71106e59
12:52963660 KRT74 C>G	12	52963660	52963660	C	G	KRT74	c.1117G>C	NM_175053.4	NP_778223.2:p.(Gly373Arg)	NC_000012.11:g.52963660C>G	(Likely) benign	1 lab	0d71498235
12:53343074 KRT18 T>C	12	53343074	53343074	T	C	KRT18	c.117T>C	NM_000224.3	NP_000215.1:p.(Ala39=)	NC_000012.11:g.53343074T>C	VUS	1 lab	0d715a7c5e
3:62636713 CADPS T>C	3	62636713	62636713	T	C	CADPS	c.1012A>G	NM_003716.4	NP_003707.2:p.(Met338Val)	NC_000003.11:g.62636713T>C	VUS	1 lab	0d71ab42c4
7:150069421 REPIN1 C>T	7	150069421	150069421	C	T	REPIN1	c.1262C>T	NM_001099695.2	NP_001093165.1:p.(Pro421Leu)	NC_000007.13:g.150069421C>T	(Likely) benign	1 lab	0d72179e0b
16:28986527 SPNS1 G>A	16	28986527	28986527	G	A	SPNS1	c.55G>A	NM_032038.3	NP_114427.1:p.(Gly19Arg)	NC_000016.9:g.28986527G>A	(Likely) benign	1 lab	0d72c40026
12:75672774 CAPS2 C>T	12	75672774	75672774	C	T	CAPS2	c.1570G>A	NM_001355024.4	NP_001341953.2:p.(Glu524Lys)	NC_000012.11:g.75672774C>T	VUS	1 lab	0d735a65b2
2:152352791 NEB G>A	2	152352791	152352791	G	A	NEB	c.24485C>T	NM_001164508.2	NP_001157980.2:p.(Ser8162Leu)	NC_000002.11:g.152352791G>A	VUS	1 lab	0d7384d26b
22:50962095 SCO2 T>C	22	50962095	50962095	T	C	SCO2	c.746A>G	NM_005138.3	NP_005129.2:p.(Gln249Arg)	NC_000022.10:g.50962095T>C	VUS	1 lab	0d73ec2fe5
X:140993884 MAGEC1 CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT>C	X	140993884	140994016	CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTT	C	MAGEC1	c.722_826del	NM_005462.5	NP_005453.2:p.(Ser241_Ser275del)	NC_000023.10:g.140993912_140994016del	VUS	1 lab	0d73edc435
1:181608077 CACNA1E A>G	1	181608077	181608077	A	G	CACNA1E	c.952-12397A>G	NM_001205293.3	NP_001192222.1:p.?	NC_000001.10:g.181608077A>G	(Likely) benign	1 lab	0d74c44348
5:60831424 ZSWIM6 A>G	5	60831424	60831424	A	G	ZSWIM6	c.2359A>G	NM_020928.2	NP_065979.1:p.(Lys787Glu)	NC_000005.9:g.60831424A>G	(Likely) benign	1 lab	0d7509fa68
3:47165337 SETD2 TA>T	3	47165337	47165340	TA	T	SETD2	c.788del	NM_014159.7	NP_054878.5:p.(Leu263Ter)	NC_000003.11:g.47165340del	(Likely) pathogenic	1 lab	0d75a4cbcd
1:12939843 PRAMEF4 G>A	1	12939843	12939843	G	A	PRAMEF4	c.959C>T	NM_001009611.4	NP_001009611.2:p.(Pro320Leu)	NC_000001.10:g.12939843G>A	(Likely) benign	1 lab	0d768bdcab
21:34861304 DNAJC28 G>A	21	34861304	34861304	G	A	DNAJC28	c.397C>T	NM_001040192.3	NP_001035282.1:p.(His133Tyr)	NC_000021.8:g.34861304G>A	VUS	1 lab	0d77eaac9a
11:71150037 DHCR7 T>C	11	71150037	71150037	T	C	DHCR7	c.719A>G	NM_001360.3	NP_001351.2:p.(Asn240Ser)	NC_000011.9:g.71150037T>C	VUS	1 lab	0d7a9480eb
4:88996055 PKD2 C>T	4	88996055	88996055	C	T	PKD2	c.2614C>T	NM_000297.4	NP_000288.1:p.(Arg872Ter)	NC_000004.11:g.88996055C>T	(Likely) pathogenic	1 lab	0d7ad7c045
9:91961847 SECISBP2 C>T	9	91961847	91961847	C	T	SECISBP2	c.1486C>T	NM_024077.5	NP_076982.3:p.(Arg496Cys)	NC_000009.11:g.91961847C>T	(Likely) benign	1 lab	0d7ba91ac7
1:161207832 NR1I3 T>G	1	161207832	161207832	T	G	NR1I3	c.-35A>C	NM_005122.5	NP_005113.1:p.?	NC_000001.10:g.161207832T>G	VUS	1 lab	0d7c6aa316
6:43488108 POLR1C G>A	6	43488108	43488108	G	A	POLR1C	c.598G>A	NM_203290.4	NP_976035.1:p.(Ala200Thr)	NC_000006.11:g.43488108G>A	VUS	1 lab	0d7cf36726
11:48142818 PTPRJ G>A	11	48142818	48142818	G	A	PTPRJ	c.616G>A	NM_002843.4	NP_002834.3:p.(Glu206Lys)	NC_000011.9:g.48142818G>A	VUS	1 lab	0d7df3edc2
6:102124491 GRIK2 A>T	6	102124491	102124491	A	T	GRIK2	c.542-7A>T	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102124491A>T	(Likely) benign	1 lab	0d80e14db8
9:140063746 LRRC26 CGCAGCCAGGCG>C	9	140063746	140063757	CGCAGCCAGGCG	C	LRRC26	c.639_649del	NM_001013653.3	NP_001013675.1:p.(Cys213TrpfsTer35)	NC_000009.11:g.140063747_140063757del	VUS	1 lab	0d810fc935
12:57548095 LRP1 A>T	12	57548095	57548095	A	T	LRP1	c.946A>T	NM_002332.3	NP_002323.2:p.(Thr316Ser)	NC_000012.11:g.57548095A>T	VUS	1 lab	0d8217df30
5:36301440 RANBP3L G>A	5	36301440	36301440	G	A	RANBP3L	c.79C>T	NM_145000.5	NP_659437.3:p.(Arg27Trp)	NC_000005.9:g.36301440G>A	VUS	1 lab	0d8531d9f3
X:153070359 PDZD4 G>A	X	153070359	153070359	G	A	PDZD4	c.781-4C>T	NM_001303512.2	NP_001290441.1:p.?	NC_000023.10:g.153070359G>A	VUS	1 lab	0d87217f90
7:73020093 MLXIPL C>T	7	73020093	73020093	C	T	MLXIPL	c.826G>A	NM_032951.3	NP_116569.1:p.(Val276Ile)	NC_000007.13:g.73020093C>T	(Likely) benign	1 lab	0d8aa46190
17:1373818 MYO1C C>T	17	1373818	1373818	C	T	MYO1C	c.2282-5G>A	NM_001080779.2	NP_001074248.1:p.?	NC_000017.10:g.1373818C>T	(Likely) benign	1 lab	0d8b79d497
8:6420445 ANGPT2 A>G	8	6420445	6420445	A	G	ANGPT2	c.11T>C	NM_001118887.2	NP_001112359.1:p.(Ile4Thr)	NC_000008.10:g.6420445A>G	VUS	1 lab	0d8bf3be8c
12:14940172 WBP11 C>T	12	14940172	14940172	C	T	WBP11	c.1753G>A	NM_016312.3	NP_057396.1:p.(Val585Ile)	NC_000012.11:g.14940172C>T	VUS	1 lab	0d8e188bed
2:230673073 TRIP12 G>A	2	230673073	230673073	G	A	TRIP12	c.2234C>T	NM_001348323.3	NP_001335252.1:p.(Thr745Met)	NC_000002.11:g.230673073G>A	(Likely) benign	1 lab	0d90215f21
X:38031235 SRPX C>T	X	38031235	38031235	C	T	SRPX	c.425G>A	NM_006307.5	NP_006298.1:p.(Arg142Gln)	NC_000023.10:g.38031235C>T	VUS	1 lab	0d90d6ba66
3:58104626 FLNB G>T	3	58104626	58104626	G	T	FLNB	c.2773G>T	NM_001457.4	NP_001448.2:p.(Gly925Cys)	NC_000003.11:g.58104626G>T	(Likely) benign	1 lab	0d91822d86
16:88801555 PIEZO1 C>T	16	88801555	88801555	C	T	PIEZO1	c.1657G>A	NM_001142864.4	NP_001136336.2:p.(Val553Met)	NC_000016.9:g.88801555C>T	(Likely) benign	1 lab	0d91ce0b0f
12:49431762 KMT2D C>A	12	49431762	49431762	C	A	KMT2D	c.9377G>T	NM_003482.4	NP_003473.3:p.(Gly3126Val)	NC_000012.11:g.49431762C>A	VUS	1 lab	0d927260a9
16:28769358 NPIPB9 G>A	16	28769358	28769358	G	A	NPIPB9	c.121-4214G>A	NM_001287250.3	NP_001274179.1:p.?	NC_000016.9:g.28769358G>A	(Likely) benign	1 lab	0d9371b122
8:11660262 FDFT1 C>G	8	11660262	11660262	C	G	FDFT1	c.-80C>G	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11660262C>G	VUS	1 lab	0d94dadc2d
5:86669980 RASA1 G>T	5	86669980	86669980	G	T	RASA1	c.1777G>T	NM_002890.3	NP_002881.1:p.(Val593Phe)	NC_000005.9:g.86669980G>T	(Likely) benign	1 lab	0d94f9dc22
9:140051247 GRIN1 G>A	9	140051247	140051247	G	A	GRIN1	c.793+5G>A	NM_007327.4	NP_015566.1:p.?	NC_000009.11:g.140051247G>A	(Likely) benign	1 lab	0d950b18b2
1:152278950 FLG A>T	1	152278950	152278950	A	T	FLG	c.8412T>A	NM_002016.2	NP_002007.1:p.(His2804Gln)	NC_000001.10:g.152278950A>T	(Likely) benign	1 lab	0d952bccb2
X:18690182 RS1 G>C	X	18690182	18690182	G	C	RS1	c.7C>G	NM_000330.4	NP_000321.1:p.(Arg3Gly)	NC_000023.10:g.18690182G>C	(Likely) benign	1 lab	0d95edaf1c
6:157100151 ARID1B C>T	6	157100151	157100151	C	T	ARID1B	c.1337C>T	NM_001374828.1	NP_001361757.1:p.(Ala446Val)	NC_000006.11:g.157100151C>T	VUS	1 lab	0d96ce9d72
6:121768819 GJA1 G>A	6	121768819	121768819	G	A	GJA1	c.826G>A	NM_000165.5	NP_000156.1:p.(Ala276Thr)	NC_000006.11:g.121768819G>A	VUS	1 lab	0d987aaf88
14:105419371 AHNAK2 G>A	14	105419371	105419371	G	A	AHNAK2	c.2417C>T	NM_138420.4	NP_612429.2:p.(Pro806Leu)	NC_000014.8:g.105419371G>A	VUS	1 lab	0d9b0205b1
14:79111720 NRXN3 G>A	14	79111720	79111720	G	A	NRXN3	c.1015G>A	NM_001330195.2	NP_001317124.1:p.(Asp339Asn)	NC_000014.8:g.79111720G>A	VUS	1 lab	0d9cf84e85
2:5833442 SOX11 G>C	2	5833442	5833442	G	C	SOX11	c.589G>C	NM_003108.4	NP_003099.1:p.(Asp197His)	NC_000002.11:g.5833442G>C	(Likely) benign	1 lab	0d9dccd74c
16:20554542 ACSM2B A>G	16	20554542	20554542	A	G	ACSM2B	c.1324T>C	NM_001105069.2	NP_001098539.1:p.(Trp442Arg)	NC_000016.9:g.20554542A>G	VUS	1 lab	0d9e336564
X:52674499 SSX7 G>C	X	52674499	52674499	G	C	SSX7	c.561C>G	NM_173358.2	NP_775494.1:p.(Asp187Glu)	NC_000023.10:g.52674499G>C	(Likely) benign	1 lab	0da1186ecf
15:63982838 HERC1 G>A	15	63982838	63982838	G	A	HERC1	c.5839C>T	NM_003922.4	NP_003913.3:p.(Leu1947=)	NC_000015.9:g.63982838G>A	(Likely) benign	1 lab	0da1818e9a
15:43656177 ZSCAN29 CTCT>C	15	43656177	43656182	CTCT	C	ZSCAN29	c.1623_1625del	NM_001372080.1	NP_001359009.1:p.(Glu542del)	NC_000015.9:g.43656180_43656182del	VUS	1 lab	0da2f9dd01
11:67810959 TCIRG1 G>A	11	67810959	67810959	G	A	TCIRG1	c.625G>A	NM_006019.4	NP_006010.2:p.(Val209Met)	NC_000011.9:g.67810959G>A	VUS	1 lab	0da55ff406
3:49568966 DAG1 C>T	3	49568966	49568966	C	T	DAG1	c.1022C>T	NM_004393.6	NP_004384.5:p.(Thr341Ile)	NC_000003.11:g.49568966C>T	VUS	1 lab	0da5eee4ec
6:129468114 LAMA2 C>T	6	129468114	129468114	C	T	LAMA2	c.830C>T	NM_000426.4	NP_000417.3:p.(Ser277Leu)	NC_000006.11:g.129468114C>T	VUS	1 lab	0da6bad16d
2:219480722 PLCD4 C>T	2	219480722	219480722	C	T	PLCD4	c.118C>T	NM_032726.4	NP_116115.1:p.(Leu40Phe)	NC_000002.11:g.219480722C>T	VUS	1 lab	0da7d101f8
17:40843435 CNTNAP1 C>A	17	40843435	40843435	C	A	CNTNAP1	c.2250C>A	NM_003632.3	NP_003623.1:p.(Asp750Glu)	NC_000017.10:g.40843435C>A	VUS	1 lab	0dab97263e
20:17595470 RRBP1 C>T	20	17595470	17595470	C	T	RRBP1	c.4106G>A	NM_001365613.2	NP_001352542.1:p.(Arg1369Lys)	NC_000020.10:g.17595470C>T	(Likely) benign	1 lab	0daba14ee4
22:42608026 TCF20 C>T	22	42608026	42608026	C	T	TCF20	c.3286G>A	NM_001378418.1	NP_001365347.1:p.(Glu1096Lys)	NC_000022.10:g.42608026C>T	VUS	1 lab	0dac8287e2
8:41800388 KAT6A AG>A	8	41800388	41800389	AG	A	KAT6A	c.2358del	NM_006766.5	NP_006757.2:p.(Ser787GlnfsTer23)	NC_000008.10:g.41800389del	(Likely) pathogenic	1 lab	0daf437de4
10:55849744 PCDH15 G>A	10	55849744	55849744	G	A	PCDH15	c.1997C>T	NM_001384140.1	NP_001371069.1:p.(Thr666Ile)	NC_000010.10:g.55849744G>A	VUS	1 lab	0daf9296f8
15:41221921 DLL4 C>T	15	41221921	41221921	C	T	DLL4	c.55C>T	NM_019074.4	NP_061947.1:p.(Leu19Phe)	NC_000015.9:g.41221921C>T	(Likely) benign	1 lab	0db08506d5
17:76993517 CANT1 C>G	17	76993517	76993517	C	G	CANT1	c.188G>C	NM_001159773.2	NP_001153245.1:p.(Arg63Pro)	NC_000017.10:g.76993517C>G	(Likely) benign	1 lab	0db3fe3112
6:49416538 MMUT T>C	6	49416538	49416538	T	C	MMUT	c.1435A>G	NM_000255.4	NP_000246.2:p.(Ile479Val)	NC_000006.11:g.49416538T>C	VUS	1 lab	0db4a3fc90
17:78092461 GAA G>A	17	78092461	78092461	G	A	GAA	c.2656G>A	NM_000152.5	NP_000143.2:p.(Val886Met)	NC_000017.10:g.78092461G>A	(Likely) benign	1 lab	0db6b6d8cb
12:85677371 ALX1 TAGA>T	12	85677371	85677376	TAGA	T	ALX1	c.251_253del	NM_006982.3	NP_008913.2:p.(Glu84del)	NC_000012.11:g.85677374_85677376del	VUS	1 lab	0db789118c
1:115284147 CSDE1 C>A	1	115284147	115284147	C	A	CSDE1	c.1-1636G>T	NM_001007553.3	NP_001007554.1:p.?	NC_000001.10:g.115284147C>A	VUS	1 lab	0db9e8b429
1:149897723 SF3B4 C>A	1	149897723	149897723	C	A	SF3B4	c.913+5G>T	NM_005850.5	NP_005841.1:p.?	NC_000001.10:g.149897723C>A	VUS	1 lab	0dba3f2726
11:76873955 MYO7A C>A	11	76873955	76873955	C	A	MYO7A	c.1611C>A	NM_000260.4	NP_000251.3:p.(Asn537Lys)	NC_000011.9:g.76873955C>A	VUS	1 lab	0dbd60f159
X:9733857 GPR143 T>G	X	9733857	9733857	T	G	GPR143	c.1A>C	NM_000273.3	NP_000264.2:p.(Met1?)	NC_000023.10:g.9733857T>G	(Likely) pathogenic	1 lab	0dbf133c5a
10:92678658 ANKRD1 G>T	10	92678658	92678658	G	T	ANKRD1	c.417C>A	NM_014391.3	NP_055206.2:p.(Phe139Leu)	NC_000010.10:g.92678658G>T	(Likely) benign	1 lab	0dbfcd74bd
19:7606293 PNPLA6 G>A	19	7606293	7606293	G	A	PNPLA6	c.978G>A	NM_001166114.2	NP_001159586.1:p.(Leu326=)	NC_000019.9:g.7606293G>A	VUS	1 lab	0dc03dced9
2:220300021 SPEG T>C	2	220300021	220300021	T	C	SPEG	c.322T>C	NM_005876.5	NP_005867.3:p.(Cys108Arg)	NC_000002.11:g.220300021T>C	VUS	1 lab	0dc13f58cf
2:152432729 NEB T>C	2	152432729	152432729	T	C	NEB	c.16844A>G	NM_001164508.2	NP_001157980.2:p.(Tyr5615Cys)	NC_000002.11:g.152432729T>C	VUS	1 lab	0dc15490c0
22:19511909 CLDN5 G>T	22	19511909	19511909	G	T	CLDN5	c.-131C>A	NM_001363066.2	NP_001349995.1:p.?	NC_000022.10:g.19511909G>T	VUS	1 lab	0dc20ec86f
6:24797873 ARMH2 T>C	6	24797873	24797873	T	C	ARMH2	c.458A>G	NM_001282492.2	NP_001269421.1:p.(Glu153Gly)	NC_000006.11:g.24797873T>C	VUS	1 lab	0dc231de93
X:153205612 RENBP A>C	X	153205612	153205612	A	C	RENBP	c.1020T>G	NM_002910.6	NP_002901.2:p.(Ser340Arg)	NC_000023.10:g.153205612A>C	(Likely) benign	1 lab	0dc3f645d7
20:44045325 PIGT C>T	20	44045325	44045325	C	T	PIGT	c.356C>T	NM_015937.6	NP_057021.2:p.(Thr119Ile)	NC_000020.10:g.44045325C>T	(Likely) benign	1 lab	0dc4947b68
14:30066709 PRKD1 T>C	14	30066709	30066709	T	C	PRKD1	c.2422A>G	NM_002742.3	NP_002733.2:p.(Ile808Val)	NC_000014.8:g.30066709T>C	(Likely) benign	1 lab	0dc49ed71f
12:54920340 NCKAP1L G>A	12	54920340	54920340	G	A	NCKAP1L	c.2185G>A	NM_005337.5	NP_005328.2:p.(Ala729Thr)	NC_000012.11:g.54920340G>A	(Likely) benign	1 lab	33c6ad439d
3:52021444 ACY1 G>A	3	52021444	52021444	G	A	ACY1	c.827G>A	NM_000666.3	NP_000657.1:p.(Arg276His)	NC_000003.11:g.52021444G>A	VUS	1 lab	0dc6758af5
4:48583490 FRYL C>T	4	48583490	48583490	C	T	FRYL	c.2119G>A	NM_015030.2	NP_055845.1:p.(Val707Ile)	NC_000004.11:g.48583490C>T	(Likely) benign	1 lab	0dc76ebe1d
15:72641570 HEXA G>C	15	72641570	72641570	G	C	HEXA	c.836C>G	NM_000520.6	NP_000511.2:p.(Ser279Cys)	NC_000015.9:g.72641570G>C	VUS	1 lab	0dc7d5d746
2:179557281 TTN G>A	2	179557281	179557281	G	A	TTN	c.31621C>T	NM_001267550.2	NP_001254479.2:p.(Pro10541Ser)	NC_000002.11:g.179557281G>A	(Likely) benign	1 lab	0dc7e10ab9
17:41243690 BRCA1 AC>A	17	41243690	41243691	AC	A	BRCA1	c.3857del	NM_007294.4	NP_009225.1:p.(Ser1286MetfsTer21)	NC_000017.10:g.41243691del	(Likely) pathogenic	1 lab	0dc8b2da37
1:153788749 GATAD2B C>A	1	153788749	153788749	C	A	GATAD2B	c.1216G>T	NM_020699.4	NP_065750.1:p.(Gly406Cys)	NC_000001.10:g.153788749C>A	VUS	1 lab	0dca90e5b4
22:41550998 EP300 G>T	22	41550998	41550998	G	T	EP300	c.3143-1G>T	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41550998G>T	(Likely) benign	1 lab	0dcaa9ebc3
22:37453507 KCTD17 A>T	22	37453507	37453507	A	T	KCTD17	c.460A>T	NM_001282684.2	NP_001269613.2:p.(Met154Leu)	NC_000022.10:g.37453507A>T	VUS	1 lab	0dcaad00b0
7:33192305 BBS9 C>T	7	33192305	33192305	C	T	BBS9	c.113-8C>T	NM_198428.3	NP_940820.1:p.?	NC_000007.13:g.33192305C>T	(Likely) benign	1 lab	0dcad985d6
5:93732089 KIAA0825 A>AT	5	93732089	93732096	A	AT	KIAA0825	c.3012dup	NM_001145678.3	NP_001139150.1:p.(Phe1005IlefsTer3)	NC_000005.9:g.93732096dup	VUS	1 lab	0dcde62f55
1:186276052 PRG4 A>C	1	186276052	186276052	A	C	PRG4	c.1201A>C	NM_005807.6	NP_005798.3:p.(Thr401Pro)	NC_000001.10:g.186276052A>C	VUS	1 lab	0dd0136f82
1:152284678 FLG G>T	1	152284678	152284678	G	T	FLG	c.2684C>A	NM_002016.2	NP_002007.1:p.(Thr895Lys)	NC_000001.10:g.152284678G>T	(Likely) benign	1 lab	0dd0734418
11:17470134 ABCC8 C>T	11	17470134	17470134	C	T	ABCC8	c.1261G>A	NM_000352.6	NP_000343.2:p.(Val421Ile)	NC_000011.9:g.17470134C>T	VUS	1 lab	0dd137496e
22:42609688 TCF20 T>TG	22	42609688	42609689	T	TG	TCF20	c.1623dup	NM_001378418.1	NP_001365347.1:p.(Thr542HisfsTer4)	NC_000022.10:g.42609689dup	(Likely) pathogenic	1 lab	0dd1377632
14:51245527 NIN A>G	14	51245527	51245527	A	G	NIN	c.436-5T>C	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51245527A>G	(Likely) benign	1 lab	0dd165b3ea
4:6290732 WFS1 C>T	4	6290732	6290732	C	T	WFS1	c.334C>T	NM_006005.3	NP_005996.2:p.(Gln112Ter)	NC_000004.11:g.6290732C>T	(Likely) pathogenic	1 lab	0dd477dc6c
4:95972917 BMPR1B A>G	4	95972917	95972917	A	G	BMPR1B	c.-17-52642A>G	NM_001203.3	NP_001194.1:p.?	NC_000004.11:g.95972917A>G	(Likely) benign	1 lab	0dd7297957
6:31630170 GPANK1 C>T	6	31630170	31630170	C	T	GPANK1	c.944G>A	NM_033177.4	NP_149417.1:p.(Arg315Gln)	NC_000006.11:g.31630170C>T	(Likely) benign	1 lab	0dd73587ba
7:6797520 RSPH10B2 G>C	7	6797520	6797520	G	C	RSPH10B2	c.212G>C	NM_001099697.2	NP_001093167.1:p.(Ser71Thr)	NC_000007.13:g.6797520G>C	(Likely) benign	1 lab	0dd786093b
10:12136141 DHTKD1 G>A	10	12136141	12136141	G	A	DHTKD1	c.1229G>A	NM_018706.7	NP_061176.4:p.(Arg410Gln)	NC_000010.10:g.12136141G>A	VUS	1 lab	0dd7d9e775
5:156671476 ITK C>A	5	156671476	156671476	C	A	ITK	c.1437C>A	NM_005546.4	NP_005537.3:p.(Ile479=)	NC_000005.9:g.156671476C>A	VUS	1 lab	0dd8f41d6d
19:17443840 ANO8 G>A	19	17443840	17443840	G	A	ANO8	c.490-5C>T	NM_020959.3	NP_066010.1:p.?	NC_000019.9:g.17443840G>A	(Likely) benign	1 lab	0dda408866
4:126241969 FAT4 A>G	4	126241969	126241969	A	G	FAT4	c.4403A>G	NM_001291303.3	NP_001278232.1:p.(His1468Arg)	NC_000004.11:g.126241969A>G	VUS	1 lab	0dda46f4e0
4:122739215 CCNA2 TTTCTC>T	4	122739215	122739222	TTTCTC	T	CCNA2	c.1229_1233del	NM_001237.5	NP_001228.2:p.(Arg410LysfsTer46)	NC_000004.11:g.122739218_122739222del	VUS	1 lab	0ddb22477f
10:78846328 KCNMA1 T>A	10	78846328	78846328	T	A	KCNMA1	c.1358A>T	NM_001161352.2	NP_001154824.1:p.(Glu453Val)	NC_000010.10:g.78846328T>A	VUS	1 lab	0ddd01e8e0
7:23017045 HYCC1 A>G	7	23017045	23017045	A	G	HYCC1	c.334-5T>C	NM_032581.4	NP_115970.2:p.?	NC_000007.13:g.23017045A>G	(Likely) benign	1 lab	0de0d3f44e
X:83128603 CYLC1 C>G	X	83128603	83128603	C	G	CYLC1	c.887C>G	NM_021118.3	NP_066941.1:p.(Ser296Cys)	NC_000023.10:g.83128603C>G	(Likely) benign	1 lab	0de165f7bc
2:219920163 IHH C>G	2	219920163	219920163	C	G	IHH	c.1002G>C	NM_002181.4	NP_002172.2:p.(Lys334Asn)	NC_000002.11:g.219920163C>G	(Likely) benign	1 lab	0de1f04253
10:124361538 DMBT1 G>A	10	124361538	124361538	G	A	DMBT1	c.3569G>A	NM_001377530.1	NP_001364459.1:p.(Arg1190His)	NC_000010.10:g.124361538G>A	VUS	1 lab	0de2c5d1c9
2:113316947 POLR1B C>T	2	113316947	113316947	C	T	POLR1B	c.1408C>T	NM_019014.6	NP_061887.2:p.(Arg470Cys)	NC_000002.11:g.113316947C>T	VUS	1 lab	0de36300af
13:25276209 ATP12A G>A	13	25276209	25276209	G	A	ATP12A	c.2018G>A	NM_001676.7	NP_001667.4:p.(Arg673Gln)	NC_000013.10:g.25276209G>A	(Likely) benign	1 lab	0de582318f
12:106857403 POLR3B A>G	12	106857403	106857403	A	G	POLR3B	c.2713+5A>G	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106857403A>G	(Likely) benign	1 lab	0de6166ea4
15:57820861 CGNL1 A>G	15	57820861	57820861	A	G	CGNL1	c.3049A>G	NM_032866.5	NP_116255.2:p.(Met1017Val)	NC_000015.9:g.57820861A>G	(Likely) benign	1 lab	0de66c4612
4:106197557 TET2 T>C	4	106197557	106197557	T	C	TET2	c.5890T>C	NM_001127208.3	NP_001120680.1:p.(Tyr1964His)	NC_000004.11:g.106197557T>C	VUS	1 lab	0de7e2a6b8
3:196528863 PAK2 C>G	3	196528863	196528863	C	G	PAK2	c.253C>G	NM_002577.4	NP_002568.2:p.(His85Asp)	NC_000003.11:g.196528863C>G	VUS	1 lab	0de91cb718
16:14540876 PARN A>C	16	14540876	14540876	A	C	PARN	c.1733T>G	NM_002582.4	NP_002573.1:p.(Leu578Arg)	NC_000016.9:g.14540876A>C	(Likely) benign	1 lab	0deebf4c92
6:33148067 COL11A2 G>A	6	33148067	33148067	G	A	COL11A2	c.1327C>T	NM_080680.3	NP_542411.2:p.(Pro443Ser)	NC_000006.11:g.33148067G>A	VUS	1 lab	0deff8044c
12:13716094 GRIN2B C>G	12	13716094	13716094	C	G	GRIN2B	c.4078G>C	NM_000834.5	NP_000825.2:p.(Gly1360Arg)	NC_000012.11:g.13716094C>G	(Likely) benign	1 lab	0df118d9bd
19:41497272 CYP2B6 A>T	19	41497272	41497272	A	T	CYP2B6	c.62A>T	NM_000767.5	NP_000758.1:p.(Gln21Leu)	NC_000019.9:g.41497272A>T	(Likely) benign	1 lab	0df18947dc
4:15575890 CC2D2A A>G	4	15575890	15575890	A	G	CC2D2A	c.3712A>G	NM_001378615.1	NP_001365544.1:p.(Ile1238Val)	NC_000004.11:g.15575890A>G	VUS	1 lab	0df2356792
X:74332742 ABCB7 G>A	X	74332742	74332742	G	A	ABCB7	c.312C>T	NM_001271696.3	NP_001258625.1:p.(Leu104=)	NC_000023.10:g.74332742G>A	(Likely) benign	1 lab	0df370e812
19:47870367 DHX34 C>T	19	47870367	47870367	C	T	DHX34	c.1723C>T	NM_014681.6	NP_055496.2:p.(Pro575Ser)	NC_000019.9:g.47870367C>T	(Likely) benign	1 lab	0df4d672ad
12:121880817 KDM2B T>G	12	121880817	121880817	T	G	KDM2B	c.2582A>C	NM_032590.5	NP_115979.3:p.(Glu861Ala)	NC_000012.11:g.121880817T>G	(Likely) benign	1 lab	0df6f94a50
2:128030541 ERCC3 G>A	2	128030541	128030541	G	A	ERCC3	c.1731-4C>T	NM_000122.2	NP_000113.1:p.?	NC_000002.11:g.128030541G>A	(Likely) benign	1 lab	0df73c0d5c
19:48807333 ODAD1 C>T	19	48807333	48807333	C	T	ODAD1	c.730G>A	NM_001364171.2	NP_001351100.1:p.(Glu244Lys)	NC_000019.9:g.48807333C>T	(Likely) benign	1 lab	0df7d0d4c3
8:42022635 AP3M2 C>T	8	42022635	42022635	C	T	AP3M2	c.630C>T	NM_006803.4	NP_006794.1:p.(Val210=)	NC_000008.10:g.42022635C>T	VUS	1 lab	0df8735252
11:802767 PIDD1 CA>C	11	802767	802768	CA	C	PIDD1	c.833del	NM_145886.4	NP_665893.2:p.(Leu278ArgfsTer6)	NC_000011.9:g.802768del	(Likely) pathogenic	1 lab	0dfc5f9ab1
17:66244805 AMZ2 G>T	17	66244805	66244805	G	T	AMZ2	c.-42G>T	NM_016627.5	NP_057711.3:p.?	NC_000017.10:g.66244805G>T	VUS	1 lab	0dff189cf6
X:62944456 ARHGEF9 G>T	X	62944456	62944456	G	T	ARHGEF9	c.166C>A	NM_001353921.2	NP_001340850.1:p.(Gln56Lys)	NC_000023.10:g.62944456G>T	VUS	1 lab	0dff89c25f
4:85710874 WDFY3 C>T	4	85710874	85710874	C	T	WDFY3	c.3669+5G>A	NM_014991.6	NP_055806.2:p.?	NC_000004.11:g.85710874C>T	VUS	1 lab	0e0136fa59
11:836760 CD151 C>G	11	836760	836760	C	G	CD151	c.277-9C>G	NM_004357.5	NP_004348.2:p.?	NC_000011.9:g.836760C>G	VUS	1 lab	0e01475e6b
9:135946935 CEL G>C	9	135946935	135946935	G	C	CEL	c.2046G>C	NM_001807.6	NP_001798.3:p.(Pro682=)	NC_000009.11:g.135946935G>C	(Likely) benign	1 lab	0e023085cc
8:22031127 BMP1 G>C	8	22031127	22031127	G	C	BMP1	c.161G>C	NM_006129.5	NP_006120.1:p.(Gly54Ala)	NC_000008.10:g.22031127G>C	VUS	1 lab	0e03ddf8ee
13:25486775 CPAP G>A	13	25486775	25486775	G	A	CPAP	c.389C>T	NM_018451.5	NP_060921.3:p.(Ala130Val)	NC_000013.10:g.25486775G>A	VUS	1 lab	0e03f0c443
12:122243749 SETD1B G>C	12	122243749	122243749	G	C	SETD1B	c.282G>C	NM_001353345.2	NP_001340274.1:p.(Glu94Asp)	NC_000012.11:g.122243749G>C	VUS	1 lab	0e03fee2cf
3:180349367 CCDC39 C>T	3	180349367	180349367	C	T	CCDC39	c.1888G>A	NM_181426.2	NP_852091.1:p.(Glu630Lys)	NC_000003.11:g.180349367C>T	VUS	1 lab	0e06d8efa5
16:17451862 XYLT1 T>C	16	17451862	17451862	T	C	XYLT1	c.402+7A>G	NM_022166.4	NP_071449.1:p.?	NC_000016.9:g.17451862T>C	(Likely) benign	1 lab	0e06f360f6
2:179471916 TTN C>A	2	179471916	179471916	C	A	TTN	c.53413G>T	NM_001267550.2	NP_001254479.2:p.(Asp17805Tyr)	NC_000002.11:g.179471916C>A	(Likely) benign	1 lab	0e0928a26c
1:61872215 NFIA G>GC	1	61872215	61872229	G	GC	NFIA	c.1255-5dup	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872229dup	(Likely) benign	1 lab	0e09768809
5:156751092 CYFIP2 A>G	5	156751092	156751092	A	G	CYFIP2	c.1825+10A>G	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156751092A>G	(Likely) benign	1 lab	0e0995ae1a
6:152694212 SYNE1 T>A	6	152694212	152694212	T	A	SYNE1	c.9467A>T	NM_182961.4	NP_892006.3:p.(Asn3156Ile)	NC_000006.11:g.152694212T>A	VUS	1 lab	0e09f41897
22:41573321 EP300 C>T	22	41573321	41573321	C	T	EP300	c.5606C>T	NM_001429.4	NP_001420.2:p.(Pro1869Leu)	NC_000022.10:g.41573321C>T	VUS	1 lab	0e0c1c1069
3:126724081 PLXNA1 G>A	3	126724081	126724081	G	A	PLXNA1	c.1892G>A	NM_032242.4	NP_115618.3:p.(Gly631Asp)	NC_000003.11:g.126724081G>A	VUS	1 lab	0e0d680249
9:97522780 AOPEP G>A	9	97522780	97522780	G	A	AOPEP	c.715G>A	NM_001193329.3	NP_001180258.1:p.(Asp239Asn)	NC_000009.11:g.97522780G>A	VUS	1 lab	0e0db905e9
17:42953434 EFTUD2 G>A	17	42953434	42953434	G	A	EFTUD2	c.737C>T	NM_004247.4	NP_004238.3:p.(Ala246Val)	NC_000017.10:g.42953434G>A	(Likely) benign	1 lab	0e0e1012be
5:156770375 FNDC9 G>A	5	156770375	156770375	G	A	FNDC9	c.170C>T	NM_001001343.4	NP_001001343.2:p.(Thr57Met)	NC_000005.9:g.156770375G>A	VUS	1 lab	0e0e8a7803
12:11214231 TAS2R46 C>G	12	11214231	11214231	C	G	TAS2R46	c.663G>C	NM_176887.2	NP_795368.2:p.(Met221Ile)	NC_000012.11:g.11214231C>G	(Likely) benign	1 lab	0e10a2e44b
17:10304254 MYH8 A>C	17	10304254	10304254	A	C	MYH8	c.3277T>G	NM_002472.3	NP_002463.2:p.(Leu1093Val)	NC_000017.10:g.10304254A>C	VUS	1 lab	0e13202300
1:11896064 CLCN6 G>A	1	11896064	11896064	G	A	CLCN6	c.1834G>A	NM_001286.5	NP_001277.2:p.(Val612Ile)	NC_000001.10:g.11896064G>A	VUS	1 lab	0e135021d3
17:11738045 DNAH9 G>A	17	11738045	11738045	G	A	DNAH9	c.9337G>A	NM_001372.4	NP_001363.2:p.(Val3113Met)	NC_000017.10:g.11738045G>A	VUS	1 lab	0e14830c08
2:179634507 TTN T>C	2	179634507	179634507	T	C	TTN	c.8801A>G	NM_001267550.2	NP_001254479.2:p.(Lys2934Arg)	NC_000002.11:g.179634507T>C	VUS	1 lab	0e1728c83b
6:152652931 SYNE1 C>T	6	152652931	152652931	C	T	SYNE1	c.12889G>A	NM_182961.4	NP_892006.3:p.(Asp4297Asn)	NC_000006.11:g.152652931C>T	VUS	1 lab	0e17ee92f1
11:108064683 NPAT CCT>C	11	108064683	108064685	CCT	C	NPAT	c.216_217del	NM_002519.3	NP_002510.2:p.(Glu73AsnfsTer4)	NC_000011.9:g.108064684_108064685del	VUS	1 lab	0e186e1797
4:15559035 CC2D2A A>G	4	15559035	15559035	A	G	CC2D2A	c.2734A>G	NM_001378615.1	NP_001365544.1:p.(Arg912Gly)	NC_000004.11:g.15559035A>G	(Likely) benign	1 lab	0e1ac6e954
1:181452936 CACNA1E C>G	1	181452936	181452936	C	G	CACNA1E	c.56C>G	NM_001205293.3	NP_001192222.1:p.(Ser19Trp)	NC_000001.10:g.181452936C>G	VUS	1 lab	0e1b015455
12:121432114 HNF1A CG>C	12	121432114	121432117	CG	C	HNF1A	c.864del	NM_000545.8	NP_000536.6:p.(Pro291GlnfsTer51)	NC_000012.11:g.121432117del	(Likely) pathogenic	1 lab	0e1bb28708
1:984430 AGRN TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG>T	1	984430	984527	TGCAGCTCAGGTGGGCGGGGAGGGGACGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGCGGGGGAGGGGGGGCCGGG	T	AGRN	c.4298+6_4298+88del	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.984445_984527del	(Likely) benign	1 lab	1a7ae4d77f
2:179579937 TTN T>A	2	179579937	179579937	T	A	TTN	c.25976A>T	NM_001267550.2	NP_001254479.2:p.(Asp8659Val)	NC_000002.11:g.179579937T>A	VUS	1 lab	0e1dd08933
19:42365284 RPS19 G>A	19	42365284	42365284	G	A	RPS19	c.172+3G>A	NM_001022.4	NP_001013.1:p.?	NC_000019.9:g.42365284G>A	(Likely) benign	1 lab	0e1f7efcc3
12:85677367 ALX1 A>G	12	85677367	85677367	A	G	ALX1	c.244A>G	NM_006982.3	NP_008913.2:p.(Lys82Glu)	NC_000012.11:g.85677367A>G	VUS	1 lab	0e200a2b71
10:71658508 COL13A1 G>A	10	71658508	71658508	G	A	COL13A1	c.740G>A	NM_001368882.1	NP_001355811.1:p.(Arg247Gln)	NC_000010.10:g.71658508G>A	VUS	1 lab	0e21d0d7c9
11:124793850 HEPACAM C>T	11	124793850	124793850	C	T	HEPACAM	c.484G>A	NM_152722.5	NP_689935.2:p.(Glu162Lys)	NC_000011.9:g.124793850C>T	(Likely) benign	1 lab	0e225f5489
2:48066558 FBXO11 C>T	2	48066558	48066558	C	T	FBXO11	c.442G>A	NM_001190274.2	NP_001177203.1:p.(Ala148Thr)	NC_000002.11:g.48066558C>T	VUS	1 lab	0e22ccd2cb
4:4861901 MSX1 C>T	4	4861901	4861901	C	T	MSX1	c.275C>T	NM_002448.3	NP_002439.2:p.(Ser92Leu)	NC_000004.11:g.4861901C>T	VUS	1 lab	0e24f7d247
5:137878592 ETF1 TG>T	5	137878592	137878596	TG	T	ETF1	c.15del	NM_004730.4	NP_004721.1:p.(Ser6ValfsTer29)	NC_000005.9:g.137878596del	VUS	1 lab	0e26b1c0b2
X:149638703 MAMLD1 G>T	X	149638703	149638703	G	T	MAMLD1	c.858G>T	NM_005491.5	NP_005482.2:p.(Gln286His)	NC_000023.10:g.149638703G>T	(Likely) benign	1 lab	0e26b9a01a
12:117693837 NOS1 G>A	12	117693837	117693837	G	A	NOS1	c.2532-2278C>T	NM_000620.5	NP_000611.1:p.?	NC_000012.11:g.117693837G>A	(Likely) benign	1 lab	0e27c0c67e
12:49498672 LMBR1L G>A	12	49498672	49498672	G	A	LMBR1L	c.192-4C>T	NM_018113.4	NP_060583.2:p.?	NC_000012.11:g.49498672G>A	(Likely) benign	1 lab	0e2819ff12
1:12638962 DHRS3 C>T	1	12638962	12638962	C	T	DHRS3	c.482G>A	NM_004753.7	NP_004744.2:p.(Arg161His)	NC_000001.10:g.12638962C>T	VUS	1 lab	0e28f05841
8:145738769 RECQL4 G>A	8	145738769	145738769	G	A	RECQL4	c.2295_2296insT	NM_004260.4	NP_004251.4:p.(Arg766SerfsTer43)	NC_000008.10:g.145738769G>A	VUS	1 lab	0e299cdedb
1:176734836 PAPPA2 T>C	1	176734836	176734836	T	C	PAPPA2	c.4186T>C	NM_020318.3	NP_064714.2:p.(Cys1396Arg)	NC_000001.10:g.176734836T>C	VUS	1 lab	0e2bbed329
2:1926318 MYT1L C>T	2	1926318	1926318	C	T	MYT1L	c.1223G>A	NM_001303052.2	NP_001289981.1:p.(Arg408Gln)	NC_000002.11:g.1926318C>T	VUS	1 lab	0e2c9b1591
19:55592606 EPS8L1 CAGG>C	19	55592606	55592614	CAGG	C	EPS8L1	c.526_528del	NM_133180.3	NP_573441.2:p.(Glu176del)	NC_000019.9:g.55592612_55592614del	VUS	1 lab	0e2cb1fa28
17:29221584 ATAD5 A>G	17	29221584	29221584	A	G	ATAD5	c.5300A>G	NM_024857.5	NP_079133.3:p.(Asn1767Ser)	NC_000017.10:g.29221584A>G	(Likely) benign	1 lab	0e2da3f229
16:30078959 ALDOA A>G	16	30078959	30078959	A	G	ALDOA	c.463A>G	NM_001243177.4	NP_001230106.1:p.(Lys155Glu)	NC_000016.9:g.30078959A>G	VUS	1 lab	0e2fbf2ac6
5:37138936 CPLANE1 G>A	5	37138936	37138936	G	A	CPLANE1	c.8516C>T	NM_023073.4	NP_075561.3:p.(Pro2839Leu)	NC_000005.9:g.37138936G>A	(Likely) benign	1 lab	1a192b5e2d
3:46009810 FYCO1 C>T	3	46009810	46009810	C	T	FYCO1	c.1016G>A	NM_024513.4	NP_078789.2:p.(Arg339Gln)	NC_000003.11:g.46009810C>T	(Likely) benign	1 lab	0e309009bd
20:1559028 SIRPB1 TC>T	20	1559028	1559029	TC	T	SIRPB1	c.388del	NM_006065.5	NP_006056.2:p.(Asp130ThrfsTer28)	NC_000020.10:g.1559029del	VUS	1 lab	0e323664c9
19:36218439 KMT2B C>T	19	36218439	36218439	C	T	KMT2B	c.4218C>T	NM_014727.3	NP_055542.1:p.(Ser1406=)	NC_000019.9:g.36218439C>T	(Likely) benign	1 lab	0e32a88bc6
14:35483039 SRP54 A>G	14	35483039	35483039	A	G	SRP54	c.817A>G	NM_003136.4	NP_003127.1:p.(Ile273Val)	NC_000014.8:g.35483039A>G	(Likely) benign	1 lab	0e33769b2c
17:1630325 WDR81 C>G	17	1630325	1630325	C	G	WDR81	c.2072C>G	NM_001163809.2	NP_001157281.1:p.(Ser691Cys)	NC_000017.10:g.1630325C>G	(Likely) benign	1 lab	0e371ffe11
6:10404888 TFAP2A T>C	6	10404888	10404888	T	C	TFAP2A	c.623A>G	NM_001372066.1	NP_001358995.1:p.(Asn208Ser)	NC_000006.11:g.10404888T>C	VUS	1 lab	0e37408fbc
3:13860701 WNT7A T>C	3	13860701	13860701	T	C	WNT7A	c.790A>G	NM_004625.4	NP_004616.2:p.(Met264Val)	NC_000003.11:g.13860701T>C	VUS	1 lab	0e37c04813
7:148526807 EZH2 G>A	7	148526807	148526807	G	A	EZH2	c.484+13C>T	NM_004456.5	NP_004447.2:p.?	NC_000007.13:g.148526807G>A	(Likely) benign	1 lab	0e394010c1
16:2160307 PKD1 G>A	16	2160307	2160307	G	A	PKD1	c.4861C>T	NM_001009944.3	NP_001009944.3:p.(Gln1621Ter)	NC_000016.9:g.2160307G>A	(Likely) pathogenic	1 lab	0e395d6241
7:100849704 PLOD3 C>T	7	100849704	100849704	C	T	PLOD3	c.2075G>A	NM_001084.5	NP_001075.1:p.(Arg692His)	NC_000007.13:g.100849704C>T	VUS	1 lab	0e39668b9c
1:22174451 HSPG2 C>T	1	22174451	22174451	C	T	HSPG2	c.7873G>A	NM_005529.7	NP_005520.4:p.(Val2625Met)	NC_000001.10:g.22174451C>T	VUS	1 lab	0e39efc910
20:17475483 BFSP1 A>C	20	17475483	17475483	A	C	BFSP1	c.1234T>G	NM_001195.5	NP_001186.1:p.(Phe412Val)	NC_000020.10:g.17475483A>C	(Likely) benign	1 lab	0e3b2e41eb
19:39025805 RYR1 C>T	19	39025805	39025805	C	T	RYR1	c.11384C>T	NM_000540.3	NP_000531.2:p.(Ser3795Phe)	NC_000019.9:g.39025805C>T	VUS	1 lab	0e3c8a4005
19:49925757 PTH2 T>C	19	49925757	49925757	T	C	PTH2	c.271A>G	NM_178449.4	NP_848544.1:p.(Met91Val)	NC_000019.9:g.49925757T>C	(Likely) benign	1 lab	0e3d2fa468
5:147499900 SPINK5 CAGGAGCAATACAGGAGAA>C	5	147499900	147499945	CAGGAGCAATACAGGAGAA	C	SPINK5	c.2512_2529del	NM_006846.4	NP_006837.2:p.(Thr838_Asn843del)	NC_000005.9:g.147499928_147499945del	(Likely) benign	1 lab	0e3e29e588
21:10914438 TPTE A>C	21	10914438	10914438	A	C	TPTE	c.1281T>G	NM_199261.4	NP_954870.3:p.(Tyr427Ter)	NC_000021.8:g.10914438A>C	VUS	1 lab	0e3fd727f1
14:50626632 SOS2 G>A	14	50626632	50626632	G	A	SOS2	c.1369C>T	NM_006939.4	NP_008870.2:p.(Arg457Trp)	NC_000014.8:g.50626632G>A	VUS	1 lab	0e40ada03d
17:73586042 MYO15B T>G	17	73586042	73586042	T	G	MYO15B	c.1904T>G	NM_001395058.1	NP_001381987.1:p.(Val635Gly)	NC_000017.10:g.73586042T>G	VUS	1 lab	0e40ea1b61
17:57125141 TRIM37 A>C	17	57125141	57125141	A	C	TRIM37	c.1570T>G	NM_015294.6	NP_056109.1:p.(Tyr524Asp)	NC_000017.10:g.57125141A>C	(Likely) benign	1 lab	0e4391dce3
11:108188244 ATM G>C	11	108188244	108188244	G	C	ATM	c.6343G>C	NM_000051.4	NP_000042.3:p.(Val2115Leu)	NC_000011.9:g.108188244G>C	VUS	1 lab	0e446bd1ca
8:144999390 PLEC C>T	8	144999390	144999390	C	T	PLEC	c.4707G>A	NM_201384.3	NP_958786.1:p.(Thr1569=)	NC_000008.10:g.144999390C>T	(Likely) benign	1 lab	0e45a64b7a
11:58959623 DTX4 C>T	11	58959623	58959623	C	T	DTX4	c.1274C>T	NM_015177.2	NP_055992.1:p.(Pro425Leu)	NC_000011.9:g.58959623C>T	(Likely) benign	1 lab	0e46f1786c
5:94805596 SKIC3 G>A	5	94805596	94805596	G	A	SKIC3	c.4384C>T	NM_014639.4	NP_055454.1:p.(His1462Tyr)	NC_000005.9:g.94805596G>A	(Likely) benign	1 lab	0e47f436bc
1:22159779 HSPG2 G>A	1	22159779	22159779	G	A	HSPG2	c.11077C>T	NM_005529.7	NP_005520.4:p.(Arg3693Trp)	NC_000001.10:g.22159779G>A	VUS	1 lab	0e48e3ed4c
2:84780043 DNAH6 G>C	2	84780043	84780043	G	C	DNAH6	c.1487G>C	NM_001370.2	NP_001361.1:p.(Gly496Ala)	NC_000002.11:g.84780043G>C	(Likely) benign	1 lab	0e49f7d6a5
1:7725065 CAMTA1 T>C	1	7725065	7725065	T	C	CAMTA1	c.2458T>C	NM_015215.4	NP_056030.1:p.(Cys820Arg)	NC_000001.10:g.7725065T>C	VUS	1 lab	1a1da004e5
18:52928700 TCF4 A>AG	18	52928700	52928701	A	AG	TCF4	c.986dup	NM_001083962.2	NP_001077431.1:p.(Ser330PhefsTer9)	NC_000018.9:g.52928701dup	(Likely) pathogenic	1 lab	1a19b83e37
1:162725022 DDR2 G>A	1	162725022	162725022	G	A	DDR2	c.494G>A	NM_006182.4	NP_006173.2:p.(Arg165Gln)	NC_000001.10:g.162725022G>A	VUS	1 lab	0e4ce80e72
3:195515401 MUC4 A>T	3	195515401	195515401	A	T	MUC4	c.3050T>A	NM_018406.7	NP_060876.5:p.(Val1017Glu)	NC_000003.11:g.195515401A>T	(Likely) benign	1 lab	0e4df962a8
X:106091467 TBC1D8B G>A	X	106091467	106091467	G	A	TBC1D8B	c.1771G>A	NM_017752.3	NP_060222.2:p.(Ala591Thr)	NC_000023.10:g.106091467G>A	VUS	1 lab	1a1bfa9161
12:56481885 ERBB3 G>T	12	56481885	56481885	G	T	ERBB3	c.813G>T	NM_001982.4	NP_001973.2:p.(Gln271His)	NC_000012.11:g.56481885G>T	VUS	1 lab	0e51aa3957
20:62851273 MYT1 G>A	20	62851273	62851273	G	A	MYT1	c.2179G>A	NM_004535.3	NP_004526.1:p.(Glu727Lys)	NC_000020.10:g.62851273G>A	VUS	1 lab	0e54e7a0d1
20:40052263 CHD6 G>T	20	40052263	40052263	G	T	CHD6	c.4424C>A	NM_032221.5	NP_115597.3:p.(Thr1475Asn)	NC_000020.10:g.40052263G>T	(Likely) benign	1 lab	0e55952455
1:36028060 NCDN C>A	1	36028060	36028060	C	A	NCDN	c.1211C>A	NM_014284.3	NP_055099.1:p.(Ala404Asp)	NC_000001.10:g.36028060C>A	VUS	1 lab	0e57e31cef
7:128843305 SMO C>T	7	128843305	128843305	C	T	SMO	c.412C>T	NM_005631.5	NP_005622.1:p.(Arg138Trp)	NC_000007.13:g.128843305C>T	VUS	1 lab	0e585b291a
12:52082889 SCN8A A>T	12	52082889	52082889	A	T	SCN8A	c.706+9A>T	NM_001330260.2	NP_001317189.1:p.?	NC_000012.11:g.52082889A>T	(Likely) benign	1 lab	0e58a59cca
7:150706321 NOS3 C>T	7	150706321	150706321	C	T	NOS3	c.2290C>T	NM_000603.5	NP_000594.2:p.(Arg764Cys)	NC_000007.13:g.150706321C>T	VUS	1 lab	0e5a0034d1
1:241661246 FH G>A	1	241661246	241661246	G	A	FH	c.1415C>T	NM_000143.4	NP_000134.2:p.(Ala472Val)	NC_000001.10:g.241661246G>A	VUS	1 lab	0e5c2b5caf
2:152552147 NEB G>C	2	152552147	152552147	G	C	NEB	c.1619C>G	NM_001164508.2	NP_001157980.2:p.(Pro540Arg)	NC_000002.11:g.152552147G>C	VUS	1 lab	0e61ce56c1
10:102286734 NDUFB8 G>A	10	102286734	102286734	G	A	NDUFB8	c.310C>T	NM_005004.4	NP_004995.1:p.(Pro104Ser)	NC_000010.10:g.102286734G>A	VUS	1 lab	0e637f4f72
17:29667656 NF1 A>G	17	29667656	29667656	A	G	NF1	c.7055A>G	NM_001042492.3	NP_001035957.1:p.(Asn2352Ser)	NC_000017.10:g.29667656A>G	(Likely) benign	1 lab	0e649c5c9d
8:144991546 PLEC G>A	8	144991546	144991546	G	A	PLEC	c.12443C>T	NM_201384.3	NP_958786.1:p.(Thr4148Met)	NC_000008.10:g.144991546G>A	(Likely) benign	1 lab	0e64fe17da
10:74994978 FAM149B1 C>A	10	74994978	74994978	C	A	FAM149B1	c.1504C>A	NM_173348.2	NP_775483.1:p.(Gln502Lys)	NC_000010.10:g.74994978C>A	(Likely) benign	1 lab	0e6582d68f
X:70384642 NLGN3 T>C	X	70384642	70384642	T	C	NLGN3	c.913+464T>C	NM_181303.2	NP_851820.1:p.?	NC_000023.10:g.70384642T>C	(Likely) benign	1 lab	0e65b1b189
5:80762794 SSBP2 T>G	5	80762794	80762794	T	G	SSBP2	c.661A>C	NM_001256732.3	NP_001243661.1:p.(Met221Leu)	NC_000005.9:g.80762794T>G	VUS	1 lab	0e6663e3b4
19:10395946 ICAM1 CA>C	19	10395946	10395948	CA	C	ICAM1	c.1584del	NM_000201.3	NP_000192.2:p.(Ala529ProfsTer26)	NC_000019.9:g.10395948del	VUS	1 lab	0e6a7686eb
2:238277276 COL6A3 C>T	2	238277276	238277276	C	T	COL6A3	c.4830G>A	NM_004369.4	NP_004360.2:p.(Met1610Ile)	NC_000002.11:g.238277276C>T	(Likely) benign	1 lab	0e6b4e1bea
20:35885198 GHRH G>C	20	35885198	35885198	G	C	GHRH	c.83+12C>G	NM_021081.6	NP_066567.1:p.?	NC_000020.10:g.35885198G>C	(Likely) benign	1 lab	0e6c3f738a
12:95456460 NR2C1 G>A	12	95456460	95456460	G	A	NR2C1	c.109C>T	NM_003297.4	NP_003288.2:p.(His37Tyr)	NC_000012.11:g.95456460G>A	VUS	1 lab	0e6c81ca5b
7:92146597 PEX1 T>C	7	92146597	92146597	T	C	PEX1	c.1232A>G	NM_000466.3	NP_000457.1:p.(Lys411Arg)	NC_000007.13:g.92146597T>C	VUS	1 lab	0e6e4f52df
3:133185734 BFSP2 G>T	3	133185734	133185734	G	T	BFSP2	c.954G>T	NM_003571.4	NP_003562.1:p.(Arg318Ser)	NC_000003.11:g.133185734G>T	VUS	1 lab	0e6f01ee1d
15:48566846 SLC12A1 G>A	15	48566846	48566846	G	A	SLC12A1	c.2481G>A	NM_000338.3	NP_000329.2:p.(Val827=)	NC_000015.9:g.48566846G>A	VUS	1 lab	0e6f0892fe
6:87865349 ZNF292 G>A	6	87865349	87865349	G	A	ZNF292	c.40G>A	NM_015021.3	NP_055836.1:p.(Gly14Ser)	NC_000006.11:g.87865349G>A	(Likely) benign	1 lab	0e6f6d63dc
14:94088552 UNC79 G>GCC	14	94088552	94088556	G	GCC	UNC79	c.5192_5193dup	NM_001395159.1	NP_001382088.1:p.(Ser1732ProfsTer21)	NC_000014.8:g.94088555_94088556dup	(Likely) pathogenic	1 lab	0e73a6310c
5:125911119 ALDH7A1 C>T	5	125911119	125911119	C	T	ALDH7A1	c.688G>A	NM_001182.5	NP_001173.2:p.(Val230Ile)	NC_000005.9:g.125911119C>T	VUS	1 lab	0e73fa9baf
11:57564439 CTNND1 C>T	11	57564439	57564439	C	T	CTNND1	c.931C>T	NM_001085458.2	NP_001078927.1:p.(Pro311Ser)	NC_000011.9:g.57564439C>T	(Likely) benign	1 lab	0e7477d50b
21:45217517 RRP1 G>A	21	45217517	45217517	G	A	RRP1	c.558G>A	NM_003683.6	NP_003674.1:p.(Thr186=)	NC_000021.8:g.45217517G>A	VUS	1 lab	0e75082096
4:1801192 FGFR3 C>T	4	1801192	1801192	C	T	FGFR3	c.321C>T	NM_000142.5	NP_000133.1:p.(Tyr107=)	NC_000004.11:g.1801192C>T	(Likely) benign	1 lab	0e75206ef9
7:99050052 CPSF4 C>T	7	99050052	99050052	C	T	CPSF4	c.559C>T	NM_006693.4	NP_006684.1:p.(Pro187Ser)	NC_000007.13:g.99050052C>T	VUS	1 lab	0e79f446ed
4:69519812 UGT2B15 C>T	4	69519812	69519812	C	T	UGT2B15	c.1256G>A	NM_001076.4	NP_001067.2:p.(Arg419Lys)	NC_000004.11:g.69519812C>T	(Likely) benign	1 lab	0e7b57f33b
1:1469501 ATAD3A C>T	1	1469501	1469501	C	T	ATAD3A	c.*49C>T	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1469501C>T	(Likely) benign	1 lab	1a1e9795ec
19:11152204 SMARCA4 G>T	19	11152204	11152204	G	T	SMARCA4	c.4392G>T	NM_003072.5	NP_003063.2:p.(Lys1464Asn)	NC_000019.9:g.11152204G>T	VUS	1 lab	0e7c4d0a5a
7:122789544 SLC13A1 A>G	7	122789544	122789544	A	G	SLC13A1	c.661-2180T>C	NM_022444.4	NP_071889.2:p.?	NC_000007.13:g.122789544A>G	(Likely) benign	1 lab	0e7d8fe842
9:34646714 GALT G>A	9	34646714	34646714	G	A	GALT	c.13G>A	NM_000155.4	NP_000146.2:p.(Gly5Arg)	NC_000009.11:g.34646714G>A	VUS	1 lab	0e7dc24005
11:22301171 ANO5 GAA>G	11	22301171	22301175	GAA	G	ANO5	c.2605_2606del	NM_213599.3	NP_998764.1:p.(Lys869ValfsTer9)	NC_000011.9:g.22301174_22301175del	VUS	1 lab	0e7e6d76ab
22:21351588 LZTR1 C>T	22	21351588	21351588	C	T	LZTR1	c.2474C>T	NM_006767.4	NP_006758.2:p.(Ala825Val)	NC_000022.10:g.21351588C>T	VUS	1 lab	0e7ee73394
8:141381180 TRAPPC9 C>A	8	141381180	141381180	C	A	TRAPPC9	c.1234G>T	NM_001160372.4	NP_001153844.1:p.(Ala412Ser)	NC_000008.10:g.141381180C>A	VUS	1 lab	0e7fc98631
1:53676743 CPT2 T>C	1	53676743	53676743	T	C	CPT2	c.1397T>C	NM_000098.3	NP_000089.1:p.(Val466Ala)	NC_000001.10:g.53676743T>C	VUS	1 lab	0e7fe7be78
20:47990470 KCNB1 GTTGGGATTGGGTC>G	20	47990470	47990487	GTTGGGATTGGGTC	G	KCNB1	c.1614_1626del	NM_004975.4	NP_004966.1:p.(Lys538AsnfsTer28)	NC_000020.10:g.47990475_47990487del	(Likely) pathogenic	1 lab	0e845954ea
3:184071075 CLCN2 T>A	3	184071075	184071075	T	A	CLCN2	c.1991A>T	NM_004366.6	NP_004357.3:p.(Glu664Val)	NC_000003.11:g.184071075T>A	(Likely) benign	1 lab	0e8461b38a
22:43027396 CYB5R3 C>T	22	43027396	43027396	C	T	CYB5R3	c.214G>A	NM_000398.7	NP_000389.1:p.(Gly72Ser)	NC_000022.10:g.43027396C>T	VUS	1 lab	0e86ec0a1a
X:135477570 ADGRG4 C>T	X	135477570	135477570	C	T	ADGRG4	c.8102C>T	NM_153834.4	NP_722576.3:p.(Ser2701Leu)	NC_000023.10:g.135477570C>T	VUS	1 lab	0e895564e9
3:33063053 GLB1 C>T	3	33063053	33063053	C	T	GLB1	c.1233+5G>A	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33063053C>T	VUS	1 lab	0e8ad561ed
16:88502663 ZNF469 G>A	16	88502663	88502663	G	A	ZNF469	c.8785G>A	NM_001367624.2	NP_001354553.1:p.(Glu2929Lys)	NC_000016.9:g.88502663G>A	VUS	1 lab	0e8b1d0064
10:75408435 SYNPO2L GTCC>G	10	75408435	75408446	GTCC	G	SYNPO2L	c.972_974del	NM_001114133.3	NP_001107605.1:p.(Glu324del)	NC_000010.10:g.75408444_75408446del	VUS	1 lab	0e8b909ed1
1:21848758 ALPL A>G	1	21848758	21848758	A	G	ALPL	c.-105+12748A>G	NM_000478.6	NP_000469.3:p.?	NC_000001.10:g.21848758A>G	(Likely) benign	1 lab	0e8e2b8fd1
X:150840782 PASD1 A>G	X	150840782	150840782	A	G	PASD1	c.1565A>G	NM_173493.3	NP_775764.2:p.(Gln522Arg)	NC_000023.10:g.150840782A>G	VUS	1 lab	0e8e580470
11:108158371 ATM GT>G	11	108158371	108158373	GT	G	ATM	c.4040del	NM_000051.4	NP_000042.3:p.(Leu1347TyrfsTer2)	NC_000011.9:g.108158373del	(Likely) pathogenic	1 lab	0e8f25500b
10:122618302 WDR11 A>G	10	122618302	122618302	A	G	WDR11	c.346A>G	NM_018117.12	NP_060587.8:p.(Ile116Val)	NC_000010.10:g.122618302A>G	(Likely) benign	1 lab	0e90f53367
7:151927025 KMT2C A>G	7	151927025	151927025	A	G	KMT2C	c.2959T>C	NM_170606.3	NP_733751.2:p.(Tyr987His)	NC_000007.13:g.151927025A>G	(Likely) benign	1 lab	0e9100f0a1
13:111109745 COL4A2 C>T	13	111109745	111109745	C	T	COL4A2	c.1395C>T	NM_001846.4	NP_001837.2:p.(Pro465=)	NC_000013.10:g.111109745C>T	(Likely) benign	1 lab	0e949f157c
2:202359189 CATSPERT A>T	2	202359189	202359189	A	T	CATSPERT	c.1875T>A	NM_001168221.2	NP_001161693.1:p.(Asn625Lys)	NC_000002.11:g.202359189A>T	(Likely) benign	1 lab	0e95b4e051
13:25272833 ATP12A G>A	13	25272833	25272833	G	A	ATP12A	c.1550G>A	NM_001676.7	NP_001667.4:p.(Arg517His)	NC_000013.10:g.25272833G>A	(Likely) benign	1 lab	0e99acb8c4
8:145535871 HSF1 T>TC	8	145535871	145535874	T	TC	HSF1	c.1086dup	NM_005526.4	NP_005517.1:p.(Ser363LeufsTer9)	NC_000008.10:g.145535874dup	(Likely) benign	1 lab	0e9b904d83
5:149772346 TCOF1 C>T	5	149772346	149772346	C	T	TCOF1	c.3596C>T	NM_001371623.1	NP_001358552.1:p.(Pro1199Leu)	NC_000005.9:g.149772346C>T	(Likely) benign	1 lab	0ea005b17f
X:22010844 SMS G>A	X	22010844	22010844	G	A	SMS	c.1061+14G>A	NM_004595.5	NP_004586.2:p.?	NC_000023.10:g.22010844G>A	(Likely) benign	1 lab	1a7b68f689
19:2253777 JSRP1 G>A	19	2253777	2253777	G	A	JSRP1	c.278C>T	NM_144616.4	NP_653217.1:p.(Pro93Leu)	NC_000019.9:g.2253777G>A	VUS	1 lab	0ea4bab846
2:219602737 TTLL4 A>G	2	219602737	219602737	A	G	TTLL4	c.338A>G	NM_014640.5	NP_055455.3:p.(Asn113Ser)	NC_000002.11:g.219602737A>G	(Likely) benign	1 lab	0ea5272260
4:77818103 SOWAHB CTGCAGGGTCGAATAA>C	4	77818103	77818125	CTGCAGGGTCGAATAA	C	SOWAHB	c.885_899del	NM_001029870.3	NP_001025041.1:p.(His295_Leu299del)	NC_000004.11:g.77818111_77818125del	(Likely) benign	1 lab	0ea57028d2
19:39229109 CAPN12 C>G	19	39229109	39229109	C	G	CAPN12	c.839G>C	NM_144691.4	NP_653292.2:p.(Arg280Pro)	NC_000019.9:g.39229109C>G	VUS	1 lab	0ea579aa7f
17:9763251 GLP2R C>T	17	9763251	9763251	C	T	GLP2R	c.766-8C>T	NM_004246.3	NP_004237.1:p.?	NC_000017.10:g.9763251C>T	(Likely) benign	1 lab	0ea62a6866
6:33423004 ZBTB9 C>G	6	33423004	33423004	C	G	ZBTB9	c.127C>G	NM_152735.4	NP_689948.1:p.(Leu43Val)	NC_000006.11:g.33423004C>G	(Likely) benign	1 lab	0ea65c2270
9:135522404 DDX31 T>G	9	135522404	135522404	T	G	DDX31	c.1009A>C	NM_022779.9	NP_073616.7:p.(Ser337Arg)	NC_000009.11:g.135522404T>G	VUS	1 lab	0ea8d8c867
22:19166129 SLC25A1 C>T	22	19166129	19166129	C	T	SLC25A1	c.58G>A	NM_005984.5	NP_005975.1:p.(Ala20Thr)	NC_000022.10:g.19166129C>T	VUS	1 lab	0ea921b624
15:33261113 FMN1 AGTGGGG>A	15	33261113	33261135	AGTGGGG	A	FMN1	c.2783_2788del	NM_001277313.2	NP_001264242.1:p.(Pro928_Pro929del)	NC_000015.9:g.33261130_33261135del	VUS	1 lab	0ea93d4bd4
9:139959540 SAPCD2 C>G	9	139959540	139959540	C	G	SAPCD2	c.929G>C	NM_178448.4	NP_848543.2:p.(Cys310Ser)	NC_000009.11:g.139959540C>G	VUS	1 lab	0ea9e463f9
16:1498493 CLCN7 A>C	16	1498493	1498493	A	C	CLCN7	c.1884-8T>G	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1498493A>C	VUS	1 lab	0eaa48e052
19:17119315 CPAMD8 C>T	19	17119315	17119315	C	T	CPAMD8	c.559G>A	NM_015692.5	NP_056507.3:p.(Gly187Ser)	NC_000019.9:g.17119315C>T	VUS	1 lab	0eb8a5ae77
1:152284603 FLG G>GCC	1	152284603	152284605	G	GCC	FLG	c.2758_2759insGG	NM_002016.2	NP_002007.1:p.(Ala920GlyfsTer203)	NC_000001.10:g.152284604_152284605insCC	(Likely) benign	1 lab	0eaaa33bd0
2:179613335 TTN G>A	2	179613335	179613335	G	A	TTN	c.11311+4516C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179613335G>A	(Likely) benign	1 lab	0eaade2078
21:42080683 DSCAM G>C	21	42080683	42080683	G	C	DSCAM	c.58C>G	NM_001389.5	NP_001380.2:p.(Leu20Val)	NC_000021.8:g.42080683G>C	(Likely) benign	1 lab	0eabc37c52
1:160134012 ATP1A4 C>T	1	160134012	160134012	C	T	ATP1A4	c.845C>T	NM_144699.4	NP_653300.2:p.(Thr282Met)	NC_000001.10:g.160134012C>T	(Likely) benign	1 lab	0eacf2a534
12:116446629 MED13L G>A	12	116446629	116446629	G	A	MED13L	c.1589C>T	NM_015335.5	NP_056150.1:p.(Ala530Val)	NC_000012.11:g.116446629G>A	(Likely) benign	1 lab	0eadddbbc4
12:50479301 SMARCD1 G>T	12	50479301	50479301	G	T	SMARCD1	c.149G>T	NM_003076.5	NP_003067.3:p.(Arg50Leu)	NC_000012.11:g.50479301G>T	(Likely) benign	1 lab	0eb19b7b86
18:48450483 ME2 A>G	18	48450483	48450483	A	G	ME2	c.1072A>G	NM_002396.5	NP_002387.1:p.(Ile358Val)	NC_000018.9:g.48450483A>G	VUS	1 lab	0eb252d315
4:156273801 MAP9 C>A	4	156273801	156273801	C	A	MAP9	c.1768G>T	NM_001039580.2	NP_001034669.1:p.(Ala590Ser)	NC_000004.11:g.156273801C>A	VUS	1 lab	0eb34356ce
22:51159798 SHANK3 G>A	22	51159798	51159798	G	A	SHANK3	c.3762G>A	NM_001372044.2	NP_001358973.1:p.(Lys1254=)	NC_000022.10:g.51159798G>A	(Likely) benign	1 lab	0eb386b20c
4:5633647 EVC2 T>C	4	5633647	5633647	T	C	EVC2	c.1583A>G	NM_147127.5	NP_667338.3:p.(Gln528Arg)	NC_000004.11:g.5633647T>C	VUS	1 lab	0eb3e28a03
11:66331468 CTSF T>C	11	66331468	66331468	T	C	CTSF	c.1391A>G	NM_003793.4	NP_003784.2:p.(Tyr464Cys)	NC_000011.9:g.66331468T>C	VUS	1 lab	0eb5bd40ad
11:134212720 GLB1L2 C>A	11	134212720	134212720	C	A	GLB1L2	c.159C>A	NM_001370461.1	NP_001357390.1:p.(Asn53Lys)	NC_000011.9:g.134212720C>A	VUS	1 lab	0eb6cb8fd7
19:1401438 GAMT C>G	19	1401438	1401438	C	G	GAMT	c.38G>C	NM_000156.6	NP_000147.1:p.(Gly13Ala)	NC_000019.9:g.1401438C>G	VUS	1 lab	0eb6f6b9b0
10:124268152 HTRA1 G>A	10	124268152	124268152	G	A	HTRA1	c.1006-20G>A	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124268152G>A	(Likely) benign	1 lab	0ebac938dc
2:158630680 ACVR1 C>T	2	158630680	158630680	C	T	ACVR1	c.563G>A	NM_001111067.4	NP_001104537.1:p.(Cys188Tyr)	NC_000002.11:g.158630680C>T	VUS	1 lab	0ebaf57d0a
9:35805658 NPR2 C>T	9	35805658	35805658	C	T	NPR2	c.2038C>T	NM_003995.4	NP_003986.2:p.(Leu680Phe)	NC_000009.11:g.35805658C>T	VUS	1 lab	0ebb5564cb
21:27372346 APP G>A	21	27372346	27372346	G	A	APP	c.1017C>T	NM_000484.4	NP_000475.1:p.(Ala339=)	NC_000021.8:g.27372346G>A	(Likely) benign	1 lab	0ebb999dff
7:102036928 PRKRIP1 C>G	7	102036928	102036928	C	G	PRKRIP1	c.70C>G	NM_024653.4	NP_078929.1:p.(Pro24Ala)	NC_000007.13:g.102036928C>G	VUS	1 lab	0ebded2057
19:55112203 LILRA1 G>A	19	55112203	55112203	G	A	LILRA1	c.1391G>A	NM_006863.4	NP_006854.1:p.(Arg464His)	NC_000019.9:g.55112203G>A	(Likely) benign	1 lab	0ebfa74425
1:11204736 MTOR A>G	1	11204736	11204736	A	G	MTOR	c.4841T>C	NM_004958.3	NP_004949.1:p.(Ile1614Thr)	NC_000001.10:g.11204736A>G	(Likely) benign	1 lab	1a7c12344c
3:172165850 GHSR G>A	3	172165850	172165850	G	A	GHSR	c.354C>T	NM_198407.2	NP_940799.1:p.(Leu118=)	NC_000003.11:g.172165850G>A	(Likely) benign	1 lab	0ec0c85de6
1:53537305 PODN G>A	1	53537305	53537305	G	A	PODN	c.406+5G>A	NM_153703.5	NP_714914.3:p.?	NC_000001.10:g.53537305G>A	(Likely) benign	1 lab	0ec158ce6c
5:80024651 MSH3 A>G	5	80024651	80024651	A	G	MSH3	c.1454-19A>G	NM_002439.5	NP_002430.3:p.?	NC_000005.9:g.80024651A>G	VUS	1 lab	0ec185e780
8:144992782 PLEC G>A	8	144992782	144992782	G	A	PLEC	c.11207C>T	NM_201384.3	NP_958786.1:p.(Pro3736Leu)	NC_000008.10:g.144992782G>A	(Likely) benign	1 lab	0ec282df30
14:105241542 AKT1 G>A	14	105241542	105241542	G	A	AKT1	c.438C>T	NM_001382430.1	NP_001369359.1:p.(Thr146=)	NC_000014.8:g.105241542G>A	(Likely) benign	1 lab	0ec2d7af67
3:168833256 MECOM C>CT	3	168833256	168833263	C	CT	MECOM	c.2403dup	NM_004991.4	NP_004982.2:p.(Gly802ArgfsTer37)	NC_000003.11:g.168833263dup	(Likely) pathogenic	1 lab	0ec3ab6217
9:732475 KANK1 G>A	9	732475	732475	G	A	KANK1	c.3103G>A	NM_015158.5	NP_055973.2:p.(Glu1035Lys)	NC_000009.11:g.732475G>A	(Likely) benign	1 lab	0ec3df9e7d
11:67256887 AIP G>A	11	67256887	67256887	G	A	AIP	c.429G>A	NM_003977.2	NP_003968.2:p.(Gln143=)	NC_000011.9:g.67256887G>A	VUS	1 lab	1a7d2a186b
2:48030574 MSH6 T>G	2	48030574	48030574	T	G	MSH6	c.3188T>G	NM_000179.3	NP_000170.1:p.(Leu1063Arg)	NC_000002.11:g.48030574T>G	(Likely) pathogenic	1 lab	0ec48d23f5
2:220435104 OBSL1 C>T	2	220435104	220435104	C	T	OBSL1	c.851G>A	NM_015311.3	NP_056126.1:p.(Arg284His)	NC_000002.11:g.220435104C>T	(Likely) benign	1 lab	0ec4c81762
1:11736956 MAD2L2 G>A	1	11736956	11736956	G	A	MAD2L2	c.281C>T	NM_006341.4	NP_006332.3:p.(Pro94Leu)	NC_000001.10:g.11736956G>A	VUS	1 lab	0ec4cf0ffc
X:35820390 MAGEB16 A>C	X	35820390	35820390	A	C	MAGEB16	c.77A>C	NM_001370158.1	NP_001357087.1:p.(Glu26Ala)	NC_000023.10:g.35820390A>C	(Likely) benign	1 lab	0ec6043dc3
1:202702998 KDM5B T>C	1	202702998	202702998	T	C	KDM5B	c.3440A>G	NM_006618.5	NP_006609.3:p.(Glu1147Gly)	NC_000001.10:g.202702998T>C	(Likely) benign	1 lab	0ec69b8ece
1:155408686 ASH1L T>A	1	155408686	155408686	T	A	ASH1L	c.5260A>T	NM_018489.3	NP_060959.2:p.(Ser1754Cys)	NC_000001.10:g.155408686T>A	(Likely) benign	1 lab	0ec6a15b2d
3:12458386 PPARG G>C	3	12458386	12458386	G	C	PPARG	c.913G>C	NM_138711.6	NP_619725.3:p.(Val305Leu)	NC_000003.11:g.12458386G>C	(Likely) benign	1 lab	0ec6b8f231
10:79742502 POLR3A T>G	10	79742502	79742502	T	G	POLR3A	c.3503A>C	NM_007055.4	NP_008986.2:p.(His1168Pro)	NC_000010.10:g.79742502T>G	VUS	1 lab	0ec96c4530
20:13765944 NDUFAF5 C>CGCCGGGCG	20	13765944	13765947	C	CGCCGGGCG	NDUFAF5	c.222+10_222+11insCGGGCGGC	NM_024120.5	NP_077025.2:p.?	NC_000020.10:g.13765946_13765947insCGGGCGGC	VUS	1 lab	0ec98ebe35
16:11478168 MISSING G>A	16	11478168	11478168	G	A	MISSING				NC_000016.9:g.11478168G>A	VUS	1 lab	0eca6377be
15:93444526 CHD2 C>A	15	93444526	93444526	C	A	CHD2	c.59C>A	NM_001271.4	NP_001262.3:p.(Ser20Ter)	NC_000015.9:g.93444526C>A	(Likely) pathogenic	1 lab	0eca65c028
9:123253688 CDK5RAP2 C>T	9	123253688	123253688	C	T	CDK5RAP2	c.1379G>A	NM_018249.6	NP_060719.4:p.(Arg460His)	NC_000009.11:g.123253688C>T	VUS	1 lab	0ecb286a81
3:53275145 TKT T>G	3	53275145	53275145	T	G	TKT	c.339+3A>C	NM_001064.4	NP_001055.1:p.?	NC_000003.11:g.53275145T>G	VUS	1 lab	0ecb6eedf1
2:38298178 CYP1B1 A>C	2	38298178	38298178	A	C	CYP1B1	c.1319T>G	NM_000104.4	NP_000095.2:p.(Phe440Cys)	NC_000002.11:g.38298178A>C	VUS	1 lab	0ecbb96e24
12:23999015 SOX5 G>A	12	23999015	23999015	G	A	SOX5	c.383C>T	NM_006940.6	NP_008871.3:p.(Ala128Val)	NC_000012.11:g.23999015G>A	VUS	1 lab	0ecc1ed3db
7:82763558 PCLO T>TATATATATAA	7	82763558	82763560	T	TATATATATAA	PCLO	c.3300+7_3300+8insTTATATATAT	NM_033026.6	NP_149015.2:p.?	NC_000007.13:g.82763559_82763560insTATATATAAA	(Likely) benign	1 lab	0ecf619a2a
7:100454762 SLC12A9 G>A	7	100454762	100454762	G	A	SLC12A9	c.721G>A	NM_020246.4	NP_064631.2:p.(Gly241Ser)	NC_000007.13:g.100454762G>A	VUS	1 lab	0ecf9f5fd6
15:52404547 BCL2L10 C>T	15	52404547	52404547	C	T	BCL2L10	c.377G>A	NM_020396.4	NP_065129.1:p.(Arg126Gln)	NC_000015.9:g.52404547C>T	(Likely) benign	1 lab	0ed0788810
10:61844435 ANK3 C>T	10	61844435	61844435	C	T	ANK3	c.3999G>A	NM_020987.5	NP_066267.2:p.(Met1333Ile)	NC_000010.10:g.61844435C>T	VUS	1 lab	0ed10822e7
1:152278714 FLG C>G	1	152278714	152278714	C	G	FLG	c.8648G>C	NM_002016.2	NP_002007.1:p.(Arg2883Thr)	NC_000001.10:g.152278714C>G	(Likely) benign	1 lab	0ed2a6bd16
2:47221551 TTC7A A>G	2	47221551	47221551	A	G	TTC7A	c.899A>G	NM_020458.4	NP_065191.2:p.(Tyr300Cys)	NC_000002.11:g.47221551A>G	VUS	1 lab	f4030d4663
2:108608674 SLC5A7 A>C	2	108608674	108608674	A	C	SLC5A7	c.291A>C	NM_021815.5	NP_068587.1:p.(Leu97Phe)	NC_000002.11:g.108608674A>C	(Likely) benign	1 lab	0ed389e18a
18:48256021 MAPK4 T>G	18	48256021	48256021	T	G	MAPK4	c.1561T>G	NM_002747.4	NP_002738.2:p.(Ser521Ala)	NC_000018.9:g.48256021T>G	VUS	1 lab	0ed46a4928
1:110714768 SLC6A17 C>T	1	110714768	110714768	C	T	SLC6A17	c.373C>T	NM_001010898.4	NP_001010898.1:p.(Arg125Cys)	NC_000001.10:g.110714768C>T	VUS	1 lab	0ed4bb341d
2:166870341 SCN1A G>C	2	166870341	166870341	G	C	SCN1A	c.3618C>G	NM_001165963.4	NP_001159435.1:p.(Asn1206Lys)	NC_000002.11:g.166870341G>C	VUS	1 lab	0ed52d8615
17:5268413 RABEP1 A>G	17	5268413	5268413	A	G	RABEP1	c.1669-4A>G	NM_004703.6	NP_004694.2:p.?	NC_000017.10:g.5268413A>G	(Likely) benign	1 lab	0f1404a9c6
9:14150196 NFIB C>G	9	14150196	14150196	C	G	NFIB	c.754G>C	NM_001190737.2	NP_001177666.1:p.(Asp252His)	NC_000009.11:g.14150196C>G	(Likely) benign	1 lab	0ed5c952c8
4:6302992 WFS1 C>T	4	6302992	6302992	C	T	WFS1	c.1470C>T	NM_006005.3	NP_005996.2:p.(Thr490=)	NC_000004.11:g.6302992C>T	(Likely) benign	1 lab	0ed683c488
2:145182374 ZEB2 T>C	2	145182374	145182374	T	C	ZEB2	c.392A>G	NM_014795.4	NP_055610.1:p.(Asn131Ser)	NC_000002.11:g.145182374T>C	(Likely) benign	1 lab	0ef1f456c5
2:120012419 STEAP3 G>A	2	120012419	120012419	G	A	STEAP3	c.1210G>A	NM_182915.3	NP_878919.2:p.(Val404Ile)	NC_000002.11:g.120012419G>A	(Likely) benign	1 lab	0ed6d0091d
9:14295362 NFIB T>G	9	14295362	14295362	T	G	NFIB	c.562+11626A>C	NM_001190737.2	NP_001177666.1:p.?	NC_000009.11:g.14295362T>G	(Likely) benign	1 lab	0ed74c125c
8:143957254 CYP11B1 C>T	8	143957254	143957254	C	T	CYP11B1	c.995G>A	NM_000497.4	NP_000488.3:p.(Arg332Gln)	NC_000008.10:g.143957254C>T	(Likely) pathogenic	1 lab	0ed7a70019
1:245022878 HNRNPU G>A	1	245022878	245022878	G	A	HNRNPU	c.1018-202C>T	NM_031844.3	NP_114032.2:p.?	NC_000001.10:g.245022878G>A	(Likely) benign	1 lab	0ed8bd0591
19:34941218 UBA2 C>T	19	34941218	34941218	C	T	UBA2	c.820C>T	NM_005499.3	NP_005490.1:p.(Arg274Trp)	NC_000019.9:g.34941218C>T	VUS	1 lab	0ed9ad744f
2:47635596 MSH2 A>G	2	47635596	47635596	A	G	MSH2	c.268A>G	NM_000251.3	NP_000242.1:p.(Lys90Glu)	NC_000002.11:g.47635596A>G	VUS	1 lab	0edb6ecb5e
22:50671781 TUBGCP6 CAA>C	22	50671781	50671783	CAA	C	TUBGCP6	c.1078_1079del	NM_020461.4	NP_065194.3:p.(Leu360AspfsTer206)	NC_000022.10:g.50671782_50671783del	(Likely) pathogenic	1 lab	0edbd9fe41
8:75276294 GDAP1 C>T	8	75276294	75276294	C	T	GDAP1	c.769C>T	NM_018972.4	NP_061845.2:p.(Arg257Ter)	NC_000008.10:g.75276294C>T	(Likely) pathogenic	1 lab	0edca30147
2:179611072 TTN A>C	2	179611072	179611072	A	C	TTN	c.11312-4424T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179611072A>C	VUS	1 lab	0edcb5826e
1:111144450 KCNA2 G>GTGTA	1	111144450	111144452	G	GTGTA	KCNA2	c.*1454_*1455insTACA	NM_004974.4	NP_004965.1:p.?	NC_000001.10:g.111144451_111144452insGTAT	VUS	1 lab	0ee05cce5e
16:2090213 NTHL1 C>T	16	2090213	2090213	C	T	NTHL1	c.712G>A	NM_002528.7	NP_002519.2:p.(Ala238Thr)	NC_000016.9:g.2090213C>T	VUS	1 lab	0ee06ce9bf
X:132440065 GPC4 T>C	X	132440065	132440065	T	C	GPC4	c.995A>G	NM_001448.3	NP_001439.2:p.(Gln332Arg)	NC_000023.10:g.132440065T>C	(Likely) benign	1 lab	0ee1cbfd48
19:15297981 NOTCH3 C>A	19	15297981	15297981	C	A	NOTCH3	c.1775G>T	NM_000435.3	NP_000426.2:p.(Arg592Leu)	NC_000019.9:g.15297981C>A	VUS	1 lab	0ee2684696
8:71036133 NCOA2 T>A	8	71036133	71036133	T	A	NCOA2	c.4279A>T	NM_006540.4	NP_006531.1:p.(Met1427Leu)	NC_000008.10:g.71036133T>A	(Likely) benign	1 lab	0ee2d25b2b
4:6611721 MAN2B2 G>A	4	6611721	6611721	G	A	MAN2B2	c.2203G>A	NM_015274.3	NP_056089.1:p.(Gly735Ser)	NC_000004.11:g.6611721G>A	VUS	1 lab	0fd0f97a73
2:152490385 NEB A>G	2	152490385	152490385	A	G	NEB	c.9197T>C	NM_001164508.2	NP_001157980.2:p.(Val3066Ala)	NC_000002.11:g.152490385A>G	(Likely) benign	1 lab	0ee35128d5
15:91489894 UNC45A C>T	15	91489894	91489894	C	T	UNC45A	c.1250C>T	NM_018671.5	NP_061141.2:p.(Thr417Met)	NC_000015.9:g.91489894C>T	VUS	1 lab	0ee3f29679
6:49585788 RHAG A>G	6	49585788	49585788	A	G	RHAG	c.485T>C	NM_000324.3	NP_000315.2:p.(Ile162Thr)	NC_000006.11:g.49585788A>G	(Likely) benign	1 lab	0ee41d836f
4:73956791 ANKRD17 G>A	4	73956791	73956791	G	A	ANKRD17	c.6554C>T	NM_032217.5	NP_115593.3:p.(Thr2185Ile)	NC_000004.11:g.73956791G>A	VUS	1 lab	0ee5c33e3f
11:118850379 FOXR1 G>A	11	118850379	118850379	G	A	FOXR1	c.611+1G>A	NM_181721.3	NP_859072.1:p.?	NC_000011.9:g.118850379G>A	VUS	1 lab	0ee5e725f8
14:99697798 BCL11B C>A	14	99697798	99697798	C	A	BCL11B	c.524G>T	NM_138576.4	NP_612808.1:p.(Gly175Val)	NC_000014.8:g.99697798C>A	VUS	1 lab	0ee603db9d
12:88443087 RLIG1 ATTC>A	12	88443087	88443096	ATTC	A	RLIG1	c.*895_*897del	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443094_88443096del	VUS	1 lab	0ee64bde82
8:28574867 EXTL3 G>A	8	28574867	28574867	G	A	EXTL3	c.1291G>A	NM_001440.4	NP_001431.1:p.(Ala431Thr)	NC_000008.10:g.28574867G>A	VUS	1 lab	0ee6a5adb5
9:130269184 NIBAN2 GC>G	9	130269184	130269185	GC	G	NIBAN2	c.2180del	NM_022833.4	NP_073744.2:p.(Ser727ThrfsTer26)	NC_000009.11:g.130269185del	VUS	1 lab	0ee788f3c8
18:51025844 DCC C>T	18	51025844	51025844	C	T	DCC	c.4075C>T	NM_005215.4	NP_005206.2:p.(Pro1359Ser)	NC_000018.9:g.51025844C>T	VUS	1 lab	0ee7943100
1:160129263 ATP1A4 AGAACCCTCTGGAGACCC>A	1	160129263	160129283	AGAACCCTCTGGAGACCC	A	ATP1A4	c.729_745del	NM_144699.4	NP_653300.2:p.(Asn243LysfsTer47)	NC_000001.10:g.160129267_160129283del	VUS	1 lab	0eea18d4ad
8:11614547 GATA4 G>A	8	11614547	11614547	G	A	GATA4	c.1104G>A	NM_001308093.3	NP_001295022.1:p.(Glu368=)	NC_000008.10:g.11614547G>A	(Likely) benign	1 lab	0eeb30696b
14:105418694 AHNAK2 G>C	14	105418694	105418694	G	C	AHNAK2	c.3094C>G	NM_138420.4	NP_612429.2:p.(Leu1032Val)	NC_000014.8:g.105418694G>C	(Likely) benign	1 lab	0eed8b1857
11:6661184 DCHS1 C>T	11	6661184	6661184	C	T	DCHS1	c.1661G>A	NM_003737.4	NP_003728.1:p.(Gly554Asp)	NC_000011.9:g.6661184C>T	(Likely) benign	1 lab	0eef051cad
16:19619602 VPS35L CT>C	16	19619602	19619616	CT	C	VPS35L	c.881+20del	NM_020314.7	NP_064710.5:p.?	NC_000016.9:g.19619616del	VUS	1 lab	0ef0aef10b
22:36692899 MYH9 C>T	22	36692899	36692899	C	T	MYH9	c.3262G>A	NM_002473.6	NP_002464.1:p.(Ala1088Thr)	NC_000022.10:g.36692899C>T	VUS	1 lab	0ef254bc4e
6:32013058 TNXB G>A	6	32013058	32013058	G	A	TNXB	c.10652C>T	NM_001365276.2	NP_001352205.1:p.(Pro3551Leu)	NC_000006.11:g.32013058G>A	VUS	1 lab	0ef776d07f
7:83119488 SEMA3E C>T	7	83119488	83119488	C	T	SEMA3E	c.218G>A	NM_012431.3	NP_036563.1:p.(Gly73Glu)	NC_000007.13:g.83119488C>T	VUS	1 lab	0f141a01ef
18:19751250 GATA6 G>A	18	19751250	19751250	G	A	GATA6	c.145G>A	NM_005257.6	NP_005248.2:p.(Gly49Ser)	NC_000018.9:g.19751250G>A	VUS	1 lab	0f294438f0
16:57983286 CNGB1 CTCCTCT>C	16	57983286	57983303	CTCCTCT	C	CNGB1	c.1086_1091del	NM_001297.5	NP_001288.3:p.(Glu370_Glu371del)	NC_000016.9:g.57983298_57983303del	VUS	1 lab	0efa076f6e
6:7581741 DSP TAC>T	6	7581741	7581744	TAC	T	DSP	c.5320_5321del	NM_004415.4	NP_004406.2:p.(Gln1774GlufsTer11)	NC_000006.11:g.7581743_7581744del	(Likely) pathogenic	1 lab	1a20312426
12:57485710 NAB2 C>T	12	57485710	57485710	C	T	NAB2	c.886C>T	NM_005967.4	NP_005958.1:p.(Arg296Cys)	NC_000012.11:g.57485710C>T	VUS	1 lab	0efa2c0c56
14:57085487 TMEM260 A>T	14	57085487	57085487	A	T	TMEM260	c.1226+6A>T	NM_017799.4	NP_060269.3:p.?	NC_000014.8:g.57085487A>T	(Likely) benign	1 lab	0efdcdef13
6:10874689 GCM2 T>C	6	10874689	10874689	T	C	GCM2	c.1060A>G	NM_004752.4	NP_004743.1:p.(Met354Val)	NC_000006.11:g.10874689T>C	(Likely) benign	1 lab	0eff972acd
5:7866968 FASTKD3 G>C	5	7866968	7866968	G	C	FASTKD3	c.1229C>G	NM_024091.4	NP_076996.2:p.(Ala410Gly)	NC_000005.9:g.7866968G>C	VUS	1 lab	10696ef476
2:242144370 ANO7 C>T	2	242144370	242144370	C	T	ANO7	c.980C>T	NM_001370694.2	NP_001357623.1:p.(Thr327Met)	NC_000002.11:g.242144370C>T	(Likely) benign	1 lab	0f037079c3
11:64812150 SAC3D1 T>C	11	64812150	64812150	T	C	SAC3D1	c.1028T>C	NM_013299.4	NP_037431.3:p.(Met343Thr)	NC_000011.9:g.64812150T>C	VUS	1 lab	0f038f7eed
17:42635088 FZD2 T>TGATGCC	17	42635088	42635090	T	TGATGCC	FZD2	c.33_34insATGCCG	NM_001466.4	NP_001457.1:p.(Leu11_Leu12insMetPro)	NC_000017.10:g.42635089_42635090insATGCCG	VUS	1 lab	0f0453f0cd
2:220338578 SPEG G>A	2	220338578	220338578	G	A	SPEG	c.4400G>A	NM_005876.5	NP_005867.3:p.(Arg1467Gln)	NC_000002.11:g.220338578G>A	(Likely) benign	1 lab	0f048a6a12
14:94567118 IFI27L1 G>A	14	94567118	94567118	G	A	IFI27L1	c.61+1G>A	NM_206949.3	NP_996832.1:p.?	NC_000014.8:g.94567118G>A	VUS	1 lab	0f054e0e82
2:152331364 RIF1 CTT>C	2	152331364	152331368	CTT	C	RIF1	c.7205-4_7205-3del	NM_018151.5	NP_060621.3:p.?	NC_000002.11:g.152331367_152331368del	(Likely) benign	1 lab	0f07cd3d43
9:107531138 NIPSNAP3B C>T	9	107531138	107531138	C	T	NIPSNAP3B	c.272-6C>T	NM_018376.4	NP_060846.2:p.?	NC_000009.11:g.107531138C>T	VUS	1 lab	0f09708d9b
6:148858912 SASH1 C>CTGTG	6	148858912	148858968	C	CTGTG	SASH1	c.2096-2614_2096-2611dup	NM_015278.5	NP_056093.3:p.?	NC_000006.11:g.148858965_148858968dup	(Likely) benign	1 lab	0f09e9fe40
4:77660488 SHROOM3 C>T	4	77660488	77660488	C	T	SHROOM3	c.1162C>T	NM_020859.4	NP_065910.3:p.(Arg388Trp)	NC_000004.11:g.77660488C>T	VUS	1 lab	0f0ae4f413
5:7868313 FASTKD3 GAAAAA>G	5	7868313	7868336	GAAAAA	G	FASTKD3	c.-113-9_-113-5del	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868332_7868336del	(Likely) benign	1 lab	0f0b2a9bf7
8:145584087 SLC52A2 T>C	8	145584087	145584087	T	C	SLC52A2	c.935T>C	NM_001363118.2	NP_001350047.1:p.(Leu312Pro)	NC_000008.10:g.145584087T>C	(Likely) pathogenic	1 lab	0f0bf1d1dc
16:30722164 SRCAP G>C	16	30722164	30722164	G	C	SRCAP	c.1224G>C	NM_006662.3	NP_006653.2:p.(Glu408Asp)	NC_000016.9:g.30722164G>C	VUS	1 lab	0f0c912087
13:92797112 GPC5 C>T	13	92797112	92797112	C	T	GPC5	c.1431C>T	NM_004466.6	NP_004457.1:p.(Asp477=)	NC_000013.10:g.92797112C>T	(Likely) benign	1 lab	0f0cb9c704
12:49427347 KMT2D C>T	12	49427347	49427347	C	T	KMT2D	c.11141G>A	NM_003482.4	NP_003473.3:p.(Arg3714Lys)	NC_000012.11:g.49427347C>T	VUS	1 lab	0f0fdaf58a
8:144658686 NAPRT C>T	8	144658686	144658686	C	T	NAPRT	c.938G>A	NM_145201.6	NP_660202.3:p.(Arg313Gln)	NC_000008.10:g.144658686C>T	(Likely) benign	1 lab	0f0fe0de72
12:96370388 HAL C>T	12	96370388	96370388	C	T	HAL	c.1751G>A	NM_002108.4	NP_002099.1:p.(Arg584His)	NC_000012.11:g.96370388C>T	VUS	1 lab	0f10718501
6:111696623 REV3L T>C	6	111696623	111696623	T	C	REV3L	c.2935A>G	NM_001372078.1	NP_001359007.1:p.(Ile979Val)	NC_000006.11:g.111696623T>C	VUS	1 lab	0f10d833dd
20:47705776 CSE1L A>T	20	47705776	47705776	A	T	CSE1L	c.1822-8A>T	NM_001316.4	NP_001307.2:p.?	NC_000020.10:g.47705776A>T	(Likely) benign	1 lab	0f11dc219d
10:88476150 LDB3 CTG>C	10	88476150	88476152	CTG	C	LDB3	c.1299_1300del	NM_007078.3	NP_009009.1:p.(Ala434ProfsTer36)	NC_000010.10:g.88476151_88476152del	(Likely) benign	1 lab	0f14de6eb4
11:47182998 CSTPP1 CTT>C	11	47182998	47183000	CTT	C	CSTPP1	c.822-16_822-15del	NM_024113.5	NP_077018.1:p.?	NC_000011.9:g.47182999_47183000del	VUS	1 lab	0f19556e6b
17:3563158 CTNS A>G	17	3563158	3563158	A	G	CTNS	c.859A>G	NM_004937.3	NP_004928.2:p.(Met287Val)	NC_000017.10:g.3563158A>G	VUS	1 lab	0f1a82c53c
1:24432540 MYOM3 C>A	1	24432540	24432540	C	A	MYOM3	c.430G>T	NM_152372.4	NP_689585.3:p.(Glu144Ter)	NC_000001.10:g.24432540C>A	VUS	1 lab	0f1c039dda
18:77089168 ATP9B G>A	18	77089168	77089168	G	A	ATP9B	c.1801G>A	NM_198531.5	NP_940933.3:p.(Val601Met)	NC_000018.9:g.77089168G>A	VUS	1 lab	0f1c1f71b6
5:42713631 GHR G>C	5	42713631	42713631	G	C	GHR	c.875+10G>C	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42713631G>C	(Likely) benign	1 lab	0f1c94648c
12:4794351 NDUFA9 A>G	12	4794351	4794351	A	G	NDUFA9	c.897-74A>G	NM_005002.5	NP_004993.1:p.?	NC_000012.11:g.4794351A>G	(Likely) benign	1 lab	1a20c36b64
1:22182173 HSPG2 C>T	1	22182173	22182173	C	T	HSPG2	c.5702-5G>A	NM_005529.7	NP_005520.4:p.?	NC_000001.10:g.22182173C>T	(Likely) benign	1 lab	0f1e3fe17f
21:47552194 COL6A2 C>T	21	47552194	47552194	C	T	COL6A2	c.2788C>T	NM_001849.4	NP_001840.3:p.(Arg930Cys)	NC_000021.8:g.47552194C>T	VUS	1 lab	0f1ef50535
10:61829640 ANK3 C>T	10	61829640	61829640	C	T	ANK3	c.10999G>A	NM_020987.5	NP_066267.2:p.(Val3667Ile)	NC_000010.10:g.61829640C>T	(Likely) benign	1 lab	0f21173ce1
1:171605244 MYOC C>A	1	171605244	171605244	C	A	MYOC	c.1336G>T	NM_000261.2	NP_000252.1:p.(Asp446Tyr)	NC_000001.10:g.171605244C>A	(Likely) benign	1 lab	0f21bc7ee5
X:54497145 FGD1 A>G	X	54497145	54497145	A	G	FGD1	c.530T>C	NM_004463.3	NP_004454.2:p.(Leu177Pro)	NC_000023.10:g.54497145A>G	VUS	1 lab	0f222d9598
10:73326515 CDH23 C>T	10	73326515	73326515	C	T	CDH23	c.446C>T	NM_022124.6	NP_071407.4:p.(Thr149Met)	NC_000010.10:g.73326515C>T	VUS	1 lab	0f226fbdb6
6:117252534 RFX6 A>G	6	117252534	117252534	A	G	RFX6	c.2652A>G	NM_173560.4	NP_775831.2:p.(Gln884=)	NC_000006.11:g.117252534A>G	(Likely) benign	1 lab	0f2855cb26
X:32841509 DMD TAAAG>T	X	32841509	32841517	TAAAG	T	DMD	c.265-9_265-6del	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.32841514_32841517del	(Likely) benign	1 lab	0f2b12f212
1:240257014 FMN2 C>G	1	240257014	240257014	C	G	FMN2	c.1605C>G	NM_020066.5	NP_064450.3:p.(Asn535Lys)	NC_000001.10:g.240257014C>G	VUS	1 lab	0f2b9b54ed
19:12864099 BEST2 C>A	19	12864099	12864099	C	A	BEST2	c.178C>A	NM_017682.3	NP_060152.2:p.(Arg60Ser)	NC_000019.9:g.12864099C>A	VUS	1 lab	0f2bb324bf
16:67320256 PLEKHG4 CCTT>C	16	67320256	67320263	CCTT	C	PLEKHG4	c.2527_2529del	NM_001129729.3	NP_001123201.1:p.(Phe843del)	NC_000016.9:g.67320261_67320263del	(Likely) benign	1 lab	0f2cbc2318
4:114286254 ANK2 G>C	4	114286254	114286254	G	C	ANK2	c.10948G>C	NM_001148.6	NP_001139.3:p.(Glu3650Gln)	NC_000004.11:g.114286254G>C	(Likely) benign	1 lab	0f2d445970
11:107381717 ALKBH8 T>A	11	107381717	107381717	T	A	ALKBH8	c.1333A>T	NM_138775.3	NP_620130.2:p.(Arg445Trp)	NC_000011.9:g.107381717T>A	VUS	1 lab	0f2ecc7aaa
17:8422246 MYH10 C>A	17	8422246	8422246	C	A	MYH10	c.2296G>T	NM_001256012.3	NP_001242941.1:p.(Ala766Ser)	NC_000017.10:g.8422246C>A	VUS	1 lab	0f2f8f624c
1:897337 KLHL17 C>T	1	897337	897337	C	T	KLHL17	c.621C>T	NM_198317.3	NP_938073.1:p.(Ser207=)	NC_000001.10:g.897337C>T	(Likely) benign	1 lab	0f308efff7
15:85403124 ALPK3 C>T	15	85403124	85403124	C	T	ALPK3	c.4083C>T	NM_020778.5	NP_065829.4:p.(Leu1361=)	NC_000015.9:g.85403124C>T	(Likely) benign	1 lab	0f319c33bb
19:17918783 B3GNT3 CAG>C	19	17918783	17918785	CAG	C	B3GNT3	c.168_169del	NM_014256.4	NP_055071.2:p.(Ala57ProfsTer45)	NC_000019.9:g.17918784_17918785del	(Likely) benign	1 lab	0f32523670
21:45713699 AIRE G>C	21	45713699	45713699	G	C	AIRE	c.1306G>C	NM_000383.4	NP_000374.1:p.(Val436Leu)	NC_000021.8:g.45713699G>C	VUS	1 lab	0f32d4cfd6
6:75843078 COL12A1 A>G	6	75843078	75843078	A	G	COL12A1	c.5725T>C	NM_004370.6	NP_004361.3:p.(Tyr1909His)	NC_000006.11:g.75843078A>G	VUS	1 lab	0f34806236
17:8051028 PER1 TTG>T	17	8051028	8051030	TTG	T	PER1	c.1350_1351del	NM_002616.3	NP_002607.2:p.(Lys451GlyfsTer17)	NC_000017.10:g.8051029_8051030del	VUS	1 lab	0f3481fac0
9:94118361 AUH T>C	9	94118361	94118361	T	C	AUH	c.330+9A>G	NM_001698.3	NP_001689.1:p.?	NC_000009.11:g.94118361T>C	VUS	1 lab	10017eff55
12:52844184 KRT6B C>CCATTTCTCCTGTTTAA	12	52844184	52844186	C	CCATTTCTCCTGTTTAA	KRT6B	c.755+5_755+6insTTAAACAGGAGAAATG	NM_005555.4	NP_005546.2:p.?	NC_000012.11:g.52844185_52844186insATTTCTCCTGTTTAAC	(Likely) benign	1 lab	0f34a7eda2
6:82911129 IBTK T>TAA	6	82911129	82911132	T	TAA	IBTK	c.2790+8_2790+9dup	NM_015525.4	NP_056340.2:p.?	NC_000006.11:g.82911131_82911132dup	(Likely) benign	1 lab	0f36271081
3:87313507 POU1F1 T>C	3	87313507	87313507	T	C	POU1F1	c.370A>G	NM_000306.4	NP_000297.1:p.(Met124Val)	NC_000003.11:g.87313507T>C	(Likely) benign	1 lab	0f377a80ed
3:172166128 GHSR CG>C	3	172166128	172166133	CG	C	GHSR	c.75del	NM_198407.2	NP_940799.1:p.(Gly26AlafsTer112)	NC_000003.11:g.172166133del	VUS	1 lab	0f3c89eee1
19:8650472 ADAMTS10 G>C	19	8650472	8650472	G	C	ADAMTS10	c.2733C>G	NM_030957.4	NP_112219.3:p.(Cys911Trp)	NC_000019.9:g.8650472G>C	VUS	1 lab	0f3ca454fb
15:77924643 LINGO1 C>T	15	77924643	77924643	C	T	LINGO1	c.6+9G>A	NM_032808.7	NP_116197.4:p.?	NC_000015.9:g.77924643C>T	(Likely) benign	1 lab	0f3cfef2c8
7:100281165 GIGYF1 CCACT>C	7	100281165	100281173	CCACT	C	GIGYF1	c.2052+4_2052+7del	NM_001375765.1	NP_001362694.1:p.?	NC_000007.13:g.100281170_100281173del	VUS	1 lab	0f3e3c1c0a
5:72865444 UTP15 C>G	5	72865444	72865444	C	G	UTP15	c.491C>G	NM_032175.4	NP_115551.2:p.(Ser164Cys)	NC_000005.9:g.72865444C>G	VUS	1 lab	0f40721e55
8:53596544 RB1CC1 C>T	8	53596544	53596544	C	T	RB1CC1	c.101G>A	NM_014781.5	NP_055596.3:p.(Ser34Asn)	NC_000008.10:g.53596544C>T	VUS	1 lab	0f411f98f5
15:74487634 STRA6 A>C	15	74487634	74487634	A	C	STRA6	c.597+9T>G	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74487634A>C	(Likely) benign	1 lab	0f42791e45
17:36878422 MLLT6 G>A	17	36878422	36878422	G	A	MLLT6	c.2734G>A	NM_005937.4	NP_005928.2:p.(Ala912Thr)	NC_000017.10:g.36878422G>A	VUS	1 lab	0f43d58461
6:1610889 FOXC1 A>G	6	1610889	1610889	A	G	FOXC1	c.209A>G	NM_001453.3	NP_001444.2:p.(Gln70Arg)	NC_000006.11:g.1610889A>G	VUS	1 lab	1a28ab9b35
12:49361961 WNT10B T>C	12	49361961	49361961	T	C	WNT10B	c.479A>G	NM_003394.4	NP_003385.2:p.(Lys160Arg)	NC_000012.11:g.49361961T>C	VUS	1 lab	0f4509b577
3:47452676 PTPN23 G>A	3	47452676	47452676	G	A	PTPN23	c.3388G>A	NM_015466.4	NP_056281.1:p.(Gly1130Ser)	NC_000003.11:g.47452676G>A	(Likely) benign	1 lab	0f455c2f21
2:148701090 ORC4 T>A	2	148701090	148701090	T	A	ORC4	c.764A>T	NM_181741.4	NP_859525.1:p.(Tyr255Phe)	NC_000002.11:g.148701090T>A	(Likely) benign	1 lab	0f45fee690
14:54418823 BMP4 C>T	14	54418823	54418823	C	T	BMP4	c.118G>A	NM_001202.6	NP_001193.2:p.(Gly40Ser)	NC_000014.8:g.54418823C>T	(Likely) benign	1 lab	0f467a442d
7:45123977 NACAD G>A	7	45123977	45123977	G	A	NACAD	c.1802C>T	NM_001146334.2	NP_001139806.1:p.(Ala601Val)	NC_000007.13:g.45123977G>A	(Likely) benign	1 lab	0f4749dcf9
13:25479588 CPAP G>A	13	25479588	25479588	G	A	CPAP	c.2588C>T	NM_018451.5	NP_060921.3:p.(Ser863Leu)	NC_000013.10:g.25479588G>A	VUS	1 lab	0f47ee5812
14:30194885 PRKD1 A>G	14	30194885	30194885	A	G	PRKD1	c.265-5T>C	NM_002742.3	NP_002733.2:p.?	NC_000014.8:g.30194885A>G	(Likely) benign	1 lab	0f48b254c7
2:225379401 CUL3 C>T	2	225379401	225379401	C	T	CUL3	c.467G>A	NM_003590.5	NP_003581.1:p.(Cys156Tyr)	NC_000002.11:g.225379401C>T	VUS	1 lab	0f4aa191f6
2:39213061 SOS1 G>C	2	39213061	39213061	G	C	SOS1	c.3906C>G	NM_005633.4	NP_005624.2:p.(Ile1302Met)	NC_000002.11:g.39213061G>C	(Likely) benign	1 lab	0f4b9563ef
2:203972356 NBEAL1 T>C	2	203972356	203972356	T	C	NBEAL1	c.1394T>C	NM_001378026.1	NP_001364955.1:p.(Val465Ala)	NC_000002.11:g.203972356T>C	(Likely) benign	1 lab	0f4bec838f
12:52200120 SCN8A G>A	12	52200120	52200120	G	A	SCN8A	c.4850G>A	NM_001330260.2	NP_001317189.1:p.(Arg1617Gln)	NC_000012.11:g.52200120G>A	(Likely) pathogenic	1 lab	0f4ec5ae4b
15:54556523 UNC13C G>C	15	54556523	54556523	G	C	UNC13C	c.3606G>C	NM_001080534.3	NP_001074003.1:p.(Gln1202His)	NC_000015.9:g.54556523G>C	VUS	1 lab	0f4edc653c
9:133235833 HMCN2 G>T	9	133235833	133235833	G	T	HMCN2	c.5792G>T	NM_001291815.2	NP_001278744.1:p.(Gly1931Val)	NC_000009.11:g.133235833G>T	(Likely) benign	1 lab	0f50e793df
3:151155132 IGSF10 G>A	3	151155132	151155132	G	A	IGSF10	c.7217C>T	NM_178822.5	NP_849144.2:p.(Ala2406Val)	NC_000003.11:g.151155132G>A	VUS	1 lab	0f51fd0a90
12:52188203 SCN8A G>A	12	52188203	52188203	G	A	SCN8A	c.4573G>A	NM_001330260.2	NP_001317189.1:p.(Asp1525Asn)	NC_000012.11:g.52188203G>A	VUS	1 lab	0f52415016
15:78894406 CHRNA3 C>T	15	78894406	78894406	C	T	CHRNA3	c.578G>A	NM_000743.5	NP_000734.2:p.(Gly193Asp)	NC_000015.9:g.78894406C>T	VUS	1 lab	0f53372f6d
2:165947801 SCN3A C>T	2	165947801	165947801	C	T	SCN3A	c.4862G>A	NM_006922.4	NP_008853.3:p.(Arg1621Gln)	NC_000002.11:g.165947801C>T	(Likely) pathogenic	1 lab	1a29cb2953
17:10295888 MYH8 C>T	17	10295888	10295888	C	T	MYH8	c.5539G>A	NM_002472.3	NP_002463.2:p.(Glu1847Lys)	NC_000017.10:g.10295888C>T	(Likely) benign	1 lab	0f55f9ee68
2:238234338 COL6A3 T>G	2	238234338	238234338	T	G	COL6A3	c.9358A>C	NM_004369.4	NP_004360.2:p.(Thr3120Pro)	NC_000002.11:g.238234338T>G	VUS	1 lab	0f56163fca
17:40822354 PLEKHH3 T>C	17	40822354	40822354	T	C	PLEKHH3	c.1595A>G	NM_024927.5	NP_079203.4:p.(Asp532Gly)	NC_000017.10:g.40822354T>C	(Likely) benign	1 lab	0f5879f365
2:54872414 SPTBN1 C>G	2	54872414	54872414	C	G	SPTBN1	c.4318C>G	NM_003128.3	NP_003119.2:p.(Gln1440Glu)	NC_000002.11:g.54872414C>G	VUS	1 lab	0f59d6a263
19:17213130 MYO9B G>T	19	17213130	17213130	G	T	MYO9B	c.603G>T	NM_004145.4	NP_004136.2:p.(Lys201Asn)	NC_000019.9:g.17213130G>T	VUS	1 lab	0f5b0fa163
5:33461859 TARS1 A>G	5	33461859	33461859	A	G	TARS1	c.1629+10A>G	NM_152295.5	NP_689508.3:p.?	NC_000005.9:g.33461859A>G	(Likely) benign	1 lab	0f5c2c0950
4:6302397 WFS1 C>T	4	6302397	6302397	C	T	WFS1	c.875C>T	NM_006005.3	NP_005996.2:p.(Pro292Leu)	NC_000004.11:g.6302397C>T	VUS	1 lab	0f5d356bd2
6:10410130 TFAP2A T>C	6	10410130	10410130	T	C	TFAP2A	c.486+4A>G	NM_001372066.1	NP_001358995.1:p.?	NC_000006.11:g.10410130T>C	VUS	1 lab	0f5d733199
2:152473986 NEB C>CAAA	2	152473986	152474002	C	CAAA	NEB	c.11077-7_11077-5dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152474000_152474002dup	VUS	1 lab	0f5e902b4f
3:151093968 MED12L A>G	3	151093968	151093968	A	G	MED12L	c.4019A>G	NM_001393769.1	NP_001380698.1:p.(Asn1340Ser)	NC_000003.11:g.151093968A>G	(Likely) benign	1 lab	0f5f6a14e4
2:240969540 OR6B2 A>G	2	240969540	240969540	A	G	OR6B2	c.307T>C	NM_001005853.1	NP_001005853.1:p.(Phe103Leu)	NC_000002.11:g.240969540A>G	VUS	1 lab	0f6060d03e
5:177034523 B4GALT7 C>T	5	177034523	177034523	C	T	B4GALT7	c.634C>T	NM_007255.3	NP_009186.1:p.(Arg212Trp)	NC_000005.9:g.177034523C>T	(Likely) benign	1 lab	0f60c2c727
17:58725453 PPM1D G>T	17	58725453	58725453	G	T	PPM1D	c.1017+10G>T	NM_003620.4	NP_003611.1:p.?	NC_000017.10:g.58725453G>T	(Likely) benign	1 lab	0f62d816a9
22:42611265 TCF20 C>G	22	42611265	42611265	C	G	TCF20	c.47G>C	NM_001378418.1	NP_001365347.1:p.(Ser16Thr)	NC_000022.10:g.42611265C>G	(Likely) benign	1 lab	0f63382d74
7:138434076 ATP6V0A4 A>T	7	138434076	138434076	A	T	ATP6V0A4	c.1030-14T>A	NM_020632.3	NP_065683.2:p.?	NC_000007.13:g.138434076A>T	(Likely) benign	1 lab	0f64643ee1
2:162274728 TBR1 G>A	2	162274728	162274728	G	A	TBR1	c.864G>A	NM_006593.4	NP_006584.1:p.(Met288Ile)	NC_000002.11:g.162274728G>A	VUS	1 lab	0f6491d3d7
9:134386835 POMT1 C>T	9	134386835	134386835	C	T	POMT1	c.967C>T	NM_001077365.2	NP_001070833.1:p.(Gln323Ter)	NC_000009.11:g.134386835C>T	(Likely) pathogenic	1 lab	0f655fa279
17:70119735 SOX9 A>C	17	70119735	70119735	A	C	SOX9	c.737A>C	NM_000346.4	NP_000337.1:p.(Gln246Pro)	NC_000017.10:g.70119735A>C	(Likely) benign	1 lab	0f6621e0f3
4:123664549 BBS12 C>T	4	123664549	123664549	C	T	BBS12	c.1502C>T	NM_152618.3	NP_689831.2:p.(Thr501Met)	NC_000004.11:g.123664549C>T	(Likely) pathogenic	1 lab	0f66b0a8a2
15:89395180 ACAN G>A	15	89395180	89395180	G	A	ACAN	c.2182G>A	NM_001369268.1	NP_001356197.1:p.(Ala728Thr)	NC_000015.9:g.89395180G>A	(Likely) benign	1 lab	0f67660a8f
19:7523505 ARHGEF18 G>A	19	7523505	7523505	G	A	ARHGEF18	c.1563G>A	NM_001130955.2	NP_001124427.2:p.(Met521Ile)	NC_000019.9:g.7523505G>A	VUS	1 lab	1a2c9a7610
17:79916842 NOTUM C>T	17	79916842	79916842	C	T	NOTUM	c.502G>A	NM_178493.6	NP_848588.3:p.(Glu168Lys)	NC_000017.10:g.79916842C>T	VUS	1 lab	0f681aab62
11:119058416 NHERF4 C>T	11	119058416	119058416	C	T	NHERF4	c.657+7C>T	NM_001168468.2	NP_001161940.1:p.?	NC_000011.9:g.119058416C>T	VUS	1 lab	0f68d7116a
8:145011216 PLEC A>G	8	145011216	145011216	A	G	PLEC	c.366T>C	NM_201384.3	NP_958786.1:p.(Asn122=)	NC_000008.10:g.145011216A>G	(Likely) benign	1 lab	0f68f4157d
2:120672749 PTPN4 G>T	2	120672749	120672749	G	T	PTPN4	c.765-6G>T	NM_002830.4	NP_002821.1:p.?	NC_000002.11:g.120672749G>T	(Likely) benign	1 lab	0f6951bb77
22:32253462 DEPDC5 G>T	22	32253462	32253462	G	T	DEPDC5	c.3187G>T	NM_001242896.3	NP_001229825.1:p.(Gly1063Cys)	NC_000022.10:g.32253462G>T	VUS	1 lab	0f6a6e9dc0
9:139393344 NOTCH1 C>T	9	139393344	139393344	C	T	NOTCH1	c.6180+7G>A	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139393344C>T	(Likely) benign	1 lab	0f6b6963b4
5:37125396 CPLANE1 C>T	5	37125396	37125396	C	T	CPLANE1	c.8908G>A	NM_001384732.1	NP_001371661.1:p.(Ala2970Thr)	NC_000005.9:g.37125396C>T	VUS	1 lab	0f6b876ecb
15:99456256 IGF1R A>G	15	99456256	99456256	A	G	IGF1R	c.1590-17A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99456256A>G	(Likely) benign	1 lab	0f6b961bfc
11:6866999 OR10A5 T>C	11	6866999	6866999	T	C	OR10A5	c.86T>C	NM_178168.1	NP_835462.1:p.(Phe29Ser)	NC_000011.9:g.6866999T>C	(Likely) benign	1 lab	0f6f6831c7
12:49420081 KMT2D T>C	12	49420081	49420081	T	C	KMT2D	c.15668A>G	NM_003482.4	NP_003473.3:p.(Asn5223Ser)	NC_000012.11:g.49420081T>C	(Likely) benign	1 lab	0f6fdb5ccc
17:56389018 TSPOAP1 T>G	17	56389018	56389018	T	G	TSPOAP1	c.2995A>C	NM_004758.4	NP_004749.2:p.(Ser999Arg)	NC_000017.10:g.56389018T>G	VUS	1 lab	0f72d3af80
12:6964942 USP5 C>T	12	6964942	6964942	C	T	USP5	c.261C>T	NM_001098536.2	NP_001092006.1:p.(Gly87=)	NC_000012.11:g.6964942C>T	(Likely) benign	1 lab	0f72dcb148
2:74699737 MRPL53 C>A	2	74699737	74699737	C	A	MRPL53	c.51G>T	NM_053050.5	NP_444278.1:p.(Arg17=)	NC_000002.11:g.74699737C>A	(Likely) benign	1 lab	0f7470f25d
9:77286812 RORB G>C	9	77286812	77286812	G	C	RORB	c.1219G>C	NM_006914.4	NP_008845.2:p.(Ala407Pro)	NC_000009.11:g.77286812G>C	(Likely) benign	1 lab	0f75a6f398
13:77847669 MYCBP2 T>C	13	77847669	77847669	T	C	MYCBP2	c.883A>G	NM_015057.5	NP_055872.4:p.(Thr295Ala)	NC_000013.10:g.77847669T>C	(Likely) benign	1 lab	0f767ba86f
4:5586352 EVC2 G>A	4	5586352	5586352	G	A	EVC2	c.3055C>T	NM_147127.5	NP_667338.3:p.(Arg1019Trp)	NC_000004.11:g.5586352G>A	VUS	1 lab	0f76b9e4be
16:87445382 ZCCHC14 G>C	16	87445382	87445382	G	C	ZCCHC14	c.2945C>G	NM_015144.3	NP_055959.2:p.(Ser982Cys)	NC_000016.9:g.87445382G>C	(Likely) benign	1 lab	0f77467d32
8:145736909 RECQL4 C>T	8	145736909	145736909	C	T	RECQL4	c.3532G>A	NM_004260.4	NP_004251.4:p.(Gly1178Arg)	NC_000008.10:g.145736909C>T	VUS	1 lab	0f779636ab
17:40639347 ATP6V0A1 G>A	17	40639347	40639347	G	A	ATP6V0A1	c.985G>A	NM_001130021.3	NP_001123493.1:p.(Asp329Asn)	NC_000017.10:g.40639347G>A	VUS	1 lab	0f77afc8c6
17:61829292 CCDC47 T>C	17	61829292	61829292	T	C	CCDC47	c.1371+8A>G	NM_020198.3	NP_064583.2:p.?	NC_000017.10:g.61829292T>C	VUS	1 lab	0f7866b8d5
5:64189788 CWC27 G>A	5	64189788	64189788	G	A	CWC27	c.1042+8415G>A	NM_005869.4	NP_005860.2:p.?	NC_000005.9:g.64189788G>A	(Likely) benign	1 lab	0f7a071e8a
6:51890161 PKHD1 C>T	6	51890161	51890161	C	T	PKHD1	c.4447G>A	NM_138694.4	NP_619639.3:p.(Glu1483Lys)	NC_000006.11:g.51890161C>T	VUS	1 lab	0f7bb09b7e
11:85342853 TMEM126B G>GACACAAAA	11	85342853	85342854	G	GACACAAAA	TMEM126B	c.203+1_203+2insACACAAAA	NM_018480.7	NP_060950.3:p.?	NC_000011.9:g.85342853_85342854insACACAAAA	VUS	1 lab	0f7d0faf1b
14:51379769 PYGL C>T	14	51379769	51379769	C	T	PYGL	c.1598G>A	NM_002863.5	NP_002854.3:p.(Arg533Gln)	NC_000014.8:g.51379769C>T	(Likely) benign	1 lab	0f7ebe8c79
X:65242272 VSIG4 T>A	X	65242272	65242272	T	A	VSIG4	c.1033A>T	NM_007268.3	NP_009199.1:p.(Ser345Cys)	NC_000023.10:g.65242272T>A	VUS	1 lab	0f807ad740
10:81072430 ZMIZ1 T>C	10	81072430	81072430	T	C	ZMIZ1	c.3128T>C	NM_020338.4	NP_065071.1:p.(Leu1043Pro)	NC_000010.10:g.81072430T>C	VUS	1 lab	0f80d86b10
3:49151712 USP19 G>A	3	49151712	49151712	G	A	USP19	c.2298C>T	NM_001199161.2	NP_001186090.1:p.(Ser766=)	NC_000003.11:g.49151712G>A	VUS	1 lab	0f811fceb1
8:54682195 ATP6V1H C>A	8	54682195	54682195	C	A	ATP6V1H	c.1158G>T	NM_015941.4	NP_057025.2:p.(Lys386Asn)	NC_000008.10:g.54682195C>A	VUS	1 lab	0f81b54963
1:21894597 ALPL G>GC	1	21894597	21894598	G	GC	ALPL	c.649_650insC	NM_000478.6	NP_000469.3:p.(Val217AlafsTer15)	NC_000001.10:g.21894597_21894598insC	VUS	1 lab	0f822ebc5e
4:1807972 FGFR3 A>G	4	1807972	1807972	A	G	FGFR3	c.1960-12A>G	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807972A>G	(Likely) benign	1 lab	0f82fd0ae5
5:149435924 CSF1R G>A	5	149435924	149435924	G	A	CSF1R	c.2320-20C>T	NM_001288705.3	NP_001275634.1:p.?	NC_000005.9:g.149435924G>A	VUS	1 lab	0f86953196
14:23853866 MYH6 T>A	14	23853866	23853866	T	A	MYH6	c.5350A>T	NM_002471.4	NP_002462.2:p.(Met1784Leu)	NC_000014.8:g.23853866T>A	VUS	1 lab	0f86f068e8
1:144877176 PDE4DIP C>T	1	144877176	144877176	C	T	PDE4DIP	c.4709G>A	NM_001395426.1	NP_001382355.1:p.(Arg1570Gln)	NC_000001.10:g.144877176C>T	VUS	1 lab	0f87fe9b66
X:2867424 ARSL G>C	X	2867424	2867424	G	C	ARSL	c.775C>G	NM_000047.3	NP_000038.2:p.(His259Asp)	NC_000023.10:g.2867424G>C	(Likely) benign	1 lab	0f882037f1
6:13325355 TBC1D7 T>A	6	13325355	13325355	T	A	TBC1D7	c.164A>T	NM_016495.6	NP_057579.1:p.(Tyr55Phe)	NC_000006.11:g.13325355T>A	VUS	1 lab	0f88df1274
1:110051414 AMIGO1 C>T	1	110051414	110051414	C	T	AMIGO1	c.121G>A	NM_020703.4	NP_065754.2:p.(Ala41Thr)	NC_000001.10:g.110051414C>T	VUS	1 lab	0f8a72d158
4:111539337 PITX2 G>A	4	111539337	111539337	G	A	PITX2	c.919C>T	NM_000325.6	NP_000316.2:p.(Gln307Ter)	NC_000004.11:g.111539337G>A	VUS	1 lab	0f8b4320a2
6:7379064 CAGE1 T>G	6	7379064	7379064	T	G	CAGE1	c.473A>C	NM_001170692.2	NP_001164163.1:p.(Gln158Pro)	NC_000006.11:g.7379064T>G	(Likely) benign	1 lab	0f8bd9b334
16:57687918 ADGRG1 C>G	16	57687918	57687918	C	G	ADGRG1	c.641C>G	NM_201525.4	NP_958933.1:p.(Ser214Trp)	NC_000016.9:g.57687918C>G	VUS	1 lab	0f8e4e2af8
5:31545794 C5orf22 G>A	5	31545794	31545794	G	A	C5orf22	c.1034G>A	NM_018356.3	NP_060826.2:p.(Arg345Gln)	NC_000005.9:g.31545794G>A	VUS	1 lab	0f900f0873
6:32046888 TNXB C>T	6	32046888	32046888	C	T	TNXB	c.4297G>A	NM_001365276.2	NP_001352205.1:p.(Gly1433Arg)	NC_000006.11:g.32046888C>T	VUS	1 lab	0f913e3d56
19:49703585 TRPM4 C>T	19	49703585	49703585	C	T	TRPM4	c.2674C>T	NM_017636.4	NP_060106.2:p.(Arg892Cys)	NC_000019.9:g.49703585C>T	(Likely) benign	1 lab	0f91d62fa3
1:97700472 DPYD G>A	1	97700472	97700472	G	A	DPYD	c.2378C>T	NM_000110.4	NP_000101.2:p.(Thr793Ile)	NC_000001.10:g.97700472G>A	VUS	1 lab	0f9282ffdb
5:176638310 NSD1 T>A	5	176638310	176638310	T	A	NSD1	c.2910T>A	NM_022455.5	NP_071900.2:p.(Asp970Glu)	NC_000005.9:g.176638310T>A	(Likely) benign	1 lab	0f928d2d31
4:166914032 TLL1 C>G	4	166914032	166914032	C	G	TLL1	c.357C>G	NM_012464.5	NP_036596.3:p.(Gly119=)	NC_000004.11:g.166914032C>G	(Likely) benign	1 lab	0f9454d14f
9:119461127 ASTN2 GA>G	9	119461127	119461129	GA	G	ASTN2	c.2806+26922del	NM_001365068.1	NP_001351997.1:p.?	NC_000009.11:g.119461129del	(Likely) pathogenic	1 lab	0f951b4d5e
16:57702264 ADGRG3 C>T	16	57702264	57702264	C	T	ADGRG3	c.5C>T	NM_170776.5	NP_740746.4:p.(Ala2Val)	NC_000016.9:g.57702264C>T	VUS	1 lab	0f970be532
16:87678575 JPH3 G>A	16	87678575	87678575	G	A	JPH3	c.1094G>A	NM_020655.4	NP_065706.2:p.(Arg365His)	NC_000016.9:g.87678575G>A	VUS	1 lab	0f975202ba
2:54893235 SPTBN1 G>A	2	54893235	54893235	G	A	SPTBN1	c.6833+10G>A	NM_003128.3	NP_003119.2:p.?	NC_000002.11:g.54893235G>A	(Likely) benign	1 lab	0f9a9127ce
4:985465 IDUA C>G	4	985465	985465	C	G	IDUA	c.299+3728C>G	NM_000203.5	NP_000194.2:p.?	NC_000004.11:g.985465C>G	VUS	1 lab	0f9c189544
6:42946702 PEX6 C>T	6	42946702	42946702	C	T	PEX6	c.187G>A	NM_000287.4	NP_000278.3:p.(Gly63Ser)	NC_000006.11:g.42946702C>T	VUS	1 lab	0f9dc6bc93
5:14293232 TRIO A>G	5	14293232	14293232	A	G	TRIO	c.1165A>G	NM_007118.4	NP_009049.2:p.(Met389Val)	NC_000005.9:g.14293232A>G	VUS	1 lab	0f9f4bc436
10:124339145 DMBT1 G>A	10	124339145	124339145	G	A	DMBT1	c.731G>A	NM_001377530.1	NP_001364459.1:p.(Arg244Gln)	NC_000010.10:g.124339145G>A	(Likely) benign	1 lab	0fa0d7c02b
9:5090452 JAK2 G>A	9	5090452	5090452	G	A	JAK2	c.2768G>A	NM_004972.4	NP_004963.1:p.(Arg923His)	NC_000009.11:g.5090452G>A	VUS	1 lab	0fa1b63e8d
1:156104687 LMNA C>T	1	156104687	156104687	C	T	LMNA	c.731C>T	NM_170707.4	NP_733821.1:p.(Ala244Val)	NC_000001.10:g.156104687C>T	(Likely) benign	1 lab	0fa251ec92
5:13793641 DNAH5 G>A	5	13793641	13793641	G	A	DNAH5	c.8207C>T	NM_001369.3	NP_001360.1:p.(Ser2736Phe)	NC_000005.9:g.13793641G>A	VUS	1 lab	0fa2bcdd82
5:140907259 DIAPH1 C>A	5	140907259	140907259	C	A	DIAPH1	c.3154G>T	NM_005219.5	NP_005210.3:p.(Ala1052Ser)	NC_000005.9:g.140907259C>A	(Likely) benign	1 lab	0fa3e785fe
19:15230869 HACL2 T>A	19	15230869	15230869	T	A	HACL2	c.740A>T	NM_006844.5	NP_006835.2:p.(Asn247Ile)	NC_000019.9:g.15230869T>A	VUS	1 lab	0fa5caaf08
14:105415607 AHNAK2 C>T	14	105415607	105415607	C	T	AHNAK2	c.6181G>A	NM_138420.4	NP_612429.2:p.(Val2061Met)	NC_000014.8:g.105415607C>T	(Likely) benign	1 lab	0fa7fd3b6d
8:41530007 ANK1 T>C	8	41530007	41530007	T	C	ANK1	c.4961A>G	NM_000037.4	NP_000028.3:p.(Lys1654Arg)	NC_000008.10:g.41530007T>C	VUS	1 lab	0fa86a3984
8:21978469 HR A>G	8	21978469	21978469	A	G	HR	c.2370T>C	NM_005144.5	NP_005135.2:p.(Asp790=)	NC_000008.10:g.21978469A>G	(Likely) benign	1 lab	0fa8edbe0f
13:32808884 FRY G>GGAGAT	13	32808884	32808894	G	GGAGAT	FRY	c.5707_5711dup	NM_023037.3	NP_075463.2:p.(Ile1904MetfsTer7)	NC_000013.10:g.32808890_32808894dup	VUS	1 lab	0faa29464f
14:70990599 ADAM20 T>G	14	70990599	70990599	T	G	ADAM20	c.876A>C	NM_003814.5	NP_003805.4:p.(Gln292His)	NC_000014.8:g.70990599T>G	(Likely) benign	1 lab	0fab41b70c
15:65369242 KBTBD13 G>A	15	65369242	65369242	G	A	KBTBD13	c.89G>A	NM_001101362.3	NP_001094832.1:p.(Gly30Asp)	NC_000015.9:g.65369242G>A	(Likely) benign	1 lab	0fabb6eb51
19:15302277 NOTCH3 G>A	19	15302277	15302277	G	A	NOTCH3	c.994C>T	NM_000435.3	NP_000426.2:p.(Arg332Cys)	NC_000019.9:g.15302277G>A	(Likely) pathogenic	1 lab	0face0220e
22:36651024 APOL1 G>A	22	36651024	36651024	G	A	APOL1	c.23G>A	NM_003661.4	NP_003652.2:p.(Arg8Lys)	NC_000022.10:g.36651024G>A	(Likely) benign	1 lab	0fad465617
20:47989619 KCNB1 A>T	20	47989619	47989619	A	T	KCNB1	c.2478T>A	NM_004975.4	NP_004966.1:p.(Ser826Arg)	NC_000020.10:g.47989619A>T	VUS	1 lab	0fadeaf268
11:130060468 ST14 G>A	11	130060468	130060468	G	A	ST14	c.754G>A	NM_021978.4	NP_068813.1:p.(Ala252Thr)	NC_000011.9:g.130060468G>A	VUS	1 lab	0faf6b1643
19:11150150 SMARCA4 A>G	19	11150150	11150150	A	G	SMARCA4	c.4171-1833A>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11150150A>G	(Likely) benign	1 lab	0faff6017d
2:212652804 ERBB4 G>A	2	212652804	212652804	G	A	ERBB4	c.502C>T	NM_005235.3	NP_005226.1:p.(Arg168Trp)	NC_000002.11:g.212652804G>A	(Likely) benign	1 lab	0fb1dab341
8:144995044 PLEC G>C	8	144995044	144995044	G	C	PLEC	c.8945C>G	NM_201384.3	NP_958786.1:p.(Pro2982Arg)	NC_000008.10:g.144995044G>C	VUS	1 lab	0fb1f291e3
7:66463926 TYW1 G>A	7	66463926	66463926	G	A	TYW1	c.258G>A	NM_018264.4	NP_060734.2:p.(Gln86=)	NC_000007.13:g.66463926G>A	(Likely) benign	1 lab	0fb2681474
13:22070236 MICU2 T>C	13	22070236	22070236	T	C	MICU2	c.997A>G	NM_152726.3	NP_689939.1:p.(Ile333Val)	NC_000013.10:g.22070236T>C	VUS	1 lab	0fb458e051
20:42199704 SGK2 G>GGTGTGTGT	20	42199704	42199742	G	GGTGTGTGT	SGK2	c.510+35_510+42dup	NM_170693.3	NP_733794.1:p.?	NC_000020.10:g.42199735_42199742dup	(Likely) benign	1 lab	0fb495f8ab
3:111264249 CD96 G>A	3	111264249	111264249	G	A	CD96	c.418G>A	NM_005816.5	NP_005807.1:p.(Val140Ile)	NC_000003.11:g.111264249G>A	(Likely) benign	1 lab	0fb5a13d25
22:18640571 USP18 C>T	22	18640571	18640571	C	T	USP18	c.141C>T	NM_017414.4	NP_059110.2:p.(Ala47=)	NC_000022.10:g.18640571C>T	(Likely) benign	1 lab	0fb5d38c5b
13:77745672 MYCBP2 C>T	13	77745672	77745672	C	T	MYCBP2	c.5749G>A	NM_015057.5	NP_055872.4:p.(Val1917Ile)	NC_000013.10:g.77745672C>T	(Likely) benign	1 lab	0fb66b533e
7:96650205 DLX5 T>G	7	96650205	96650205	T	G	DLX5	c.713A>C	NM_005221.6	NP_005212.1:p.(His238Pro)	NC_000007.13:g.96650205T>G	VUS	1 lab	0fb7178411
9:93639983 SYK A>C	9	93639983	93639983	A	C	SYK	c.1312A>C	NM_003177.7	NP_003168.2:p.(Ile438Leu)	NC_000009.11:g.93639983A>C	(Likely) benign	1 lab	0fbbebdd4f
8:119122607 EXT1 G>A	8	119122607	119122607	G	A	EXT1	c.679C>T	NM_000127.3	NP_000118.2:p.(Arg227Ter)	NC_000008.10:g.119122607G>A	(Likely) pathogenic	1 lab	0fbc2f1efe
20:61444618 OGFR G>A	20	61444618	61444618	G	A	OGFR	c.1651G>A	NM_007346.4	NP_031372.2:p.(Gly551Arg)	NC_000020.10:g.61444618G>A	VUS	1 lab	0fbdc56221
18:67776870 RTTN T>A	18	67776870	67776870	T	A	RTTN	c.3767A>T	NM_173630.4	NP_775901.3:p.(His1256Leu)	NC_000018.9:g.67776870T>A	(Likely) benign	1 lab	0fbdc5ccaf
8:61656052 CHD7 C>T	8	61656052	61656052	C	T	CHD7	c.1665+396C>T	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61656052C>T	(Likely) benign	1 lab	0fbdd5549d
3:11389387 ATG7 G>A	3	11389387	11389387	G	A	ATG7	c.1162G>A	NM_001349232.2	NP_001336161.1:p.(Ala388Thr)	NC_000003.11:g.11389387G>A	VUS	1 lab	0fc1301b6d
X:117731457 DOCK11 C>A	X	117731457	117731457	C	A	DOCK11	c.2327C>A	NM_144658.4	NP_653259.3:p.(Pro776Gln)	NC_000023.10:g.117731457C>A	VUS	1 lab	0fc16d5131
2:45169354 SIX3 TGCGGGAGGCGGCGGCGGC>T	2	45169354	45169384	TGCGGGAGGCGGCGGCGGC	T	SIX3	c.124_141del	NM_005413.4	NP_005404.1:p.(Gly42_Gly47del)	NC_000002.11:g.45169367_45169384del	VUS	1 lab	0fc274f043
11:799575 PIDD1 G>A	11	799575	799575	G	A	PIDD1	c.2475-10C>T	NM_145886.4	NP_665893.2:p.?	NC_000011.9:g.799575G>A	(Likely) benign	1 lab	0fc3e68dd7
14:103396004 AMN T>C	14	103396004	103396004	T	C	AMN	c.773T>C	NM_030943.4	NP_112205.2:p.(Leu258Ser)	NC_000014.8:g.103396004T>C	(Likely) benign	1 lab	0fc4c2ff8b
13:39587372 PROSER1 AACCATTTAAAGGAGT>A	13	39587372	39587389	AACCATTTAAAGGAGT	A	PROSER1	c.2002_2016del	NM_025138.5	NP_079414.3:p.(Thr668_Gly672del)	NC_000013.10:g.39587375_39587389del	VUS	1 lab	0fc5232b46
1:180022252 CEP350 A>T	1	180022252	180022252	A	T	CEP350	c.4940A>T	NM_014810.5	NP_055625.4:p.(Asp1647Val)	NC_000001.10:g.180022252A>T	VUS	1 lab	0fc54b1e44
6:118886767 CEP85L C>G	6	118886767	118886767	C	G	CEP85L	c.945G>C	NM_001042475.3	NP_001035940.1:p.(Glu315Asp)	NC_000006.11:g.118886767C>G	(Likely) benign	1 lab	0fc6a091cf
1:156203472 PMF1 C>G	1	156203472	156203472	C	G	PMF1	c.321C>G	NM_007221.4	NP_009152.2:p.(Ala107=)	NC_000001.10:g.156203472C>G	VUS	1 lab	0fc6f30040
11:3240000 MRGPRG A>G	11	3240000	3240000	A	G	MRGPRG	c.44T>C	NM_001164377.1	NP_001157849.1:p.(Val15Ala)	NC_000011.9:g.3240000A>G	VUS	1 lab	0fc7515e31
15:42681248 CAPN3 TGAA>T	15	42681248	42681254	TGAA	T	CAPN3	c.759_761del	NM_000070.3	NP_000061.1:p.(Lys254del)	NC_000015.9:g.42681252_42681254del	(Likely) pathogenic	1 lab	0fc9d784c5
16:31196369 FUS G>C	16	31196369	31196369	G	C	FUS	c.633G>C	NM_004960.4	NP_004951.1:p.(Gln211His)	NC_000016.9:g.31196369G>C	(Likely) benign	1 lab	0fcbd6e371
3:12942684 IQSEC1 G>GGGT	3	12942684	12942700	G	GGGT	IQSEC1	c.3140_3142dup	NM_001134382.3	NP_001127854.1:p.(His1047dup)	NC_000003.11:g.12942698_12942700dup	(Likely) benign	1 lab	0fcdeb6f21
12:21968765 ABCC9 C>T	12	21968765	21968765	C	T	ABCC9	c.3955G>A	NM_020297.4	NP_064693.2:p.(Val1319Ile)	NC_000012.11:g.21968765C>T	VUS	1 lab	0fce3011d8
14:92361295 FBLN5 T>G	14	92361295	92361295	T	G	FBLN5	c.501A>C	NM_006329.4	NP_006320.2:p.(Leu167Phe)	NC_000014.8:g.92361295T>G	VUS	1 lab	0fcf70d9e6
3:10106056 FANCD2 C>T	3	10106056	10106056	C	T	FANCD2	c.1964C>T	NM_001018115.3	NP_001018125.1:p.(Thr655Ile)	NC_000003.11:g.10106056C>T	VUS	1 lab	0fcfe8ff69
9:135781005 TSC1 G>C	9	135781005	135781005	G	C	TSC1	c.1960C>G	NM_000368.5	NP_000359.1:p.(Gln654Glu)	NC_000009.11:g.135781005G>C	(Likely) benign	1 lab	0fcffda3e4
12:56480377 ERBB3 G>A	12	56480377	56480377	G	A	ERBB3	c.484G>A	NM_001982.4	NP_001973.2:p.(Asp162Asn)	NC_000012.11:g.56480377G>A	(Likely) benign	1 lab	0fd0c5a267
1:11863112 MTHFR C>T	1	11863112	11863112	C	T	MTHFR	c.62G>A	NM_005957.5	NP_005948.3:p.(Ser21Asn)	NC_000001.10:g.11863112C>T	(Likely) benign	1 lab	0fd1c3d70c
1:2343850 PEX10 C>T	1	2343850	2343850	C	T	PEX10	c.92G>A	NM_002617.4	NP_002608.1:p.(Gly31Asp)	NC_000001.10:g.2343850C>T	(Likely) benign	1 lab	0fd1d59282
2:152471056 NEB C>A	2	152471056	152471056	C	A	NEB	c.11335G>T	NM_001164508.2	NP_001157980.2:p.(Gly3779Trp)	NC_000002.11:g.152471056C>A	VUS	1 lab	0fd3478921
15:65680879 IGDCC4 C>T	15	65680879	65680879	C	T	IGDCC4	c.2753G>A	NM_020962.3	NP_066013.1:p.(Arg918Gln)	NC_000015.9:g.65680879C>T	VUS	1 lab	0fd461d5cd
Y:9305041 TSPY1 C>G	Y	9305041	9305041	C	G	TSPY1	c.432C>G	NM_003308.4	NP_003299.2:p.(His144Gln)	NC_000024.9:g.9305041C>G	VUS	1 lab	0fd4a61c4f
16:53706850 RPGRIP1L G>A	16	53706850	53706850	G	A	RPGRIP1L	c.961C>T	NM_015272.5	NP_056087.2:p.(Arg321Cys)	NC_000016.9:g.53706850G>A	(Likely) benign	1 lab	0fd78b14a2
11:17449903 ABCC8 C>A	11	17449903	17449903	C	A	ABCC8	c.1973G>T	NM_000352.6	NP_000343.2:p.(Gly658Val)	NC_000011.9:g.17449903C>A	(Likely) benign	1 lab	0fd7955f88
10:37433975 ANKRD30A T>G	10	37433975	37433975	T	G	ANKRD30A	c.1446T>G	NM_052997.3	NP_443723.3:p.(Cys482Trp)	NC_000010.10:g.37433975T>G	VUS	1 lab	0fd981b8ed
7:151860361 KMT2C T>C	7	151860361	151860361	T	C	KMT2C	c.10301A>G	NM_170606.3	NP_733751.2:p.(His3434Arg)	NC_000007.13:g.151860361T>C	(Likely) benign	1 lab	0fda595f50
12:112622111 HECTD4 CCCCAGGCTG>C	12	112622111	112622140	CCCCAGGCTG	C	HECTD4	c.10650_10658del	NM_001388303.1	NP_001375232.1:p.(Ser3551_Gly3553del)	NC_000012.11:g.112622132_112622140del	VUS	1 lab	0fda8e06c7
17:39978052 FKBP10 G>A	17	39978052	39978052	G	A	FKBP10	c.1546G>A	NM_021939.4	NP_068758.3:p.(Glu516Lys)	NC_000017.10:g.39978052G>A	(Likely) benign	1 lab	0fdc007153
4:13544105 NKX3-2 C>T	4	13544105	13544105	C	T	NKX3-2	c.514G>A	NM_001189.4	NP_001180.1:p.(Ala172Thr)	NC_000004.11:g.13544105C>T	(Likely) benign	1 lab	0fdcb68bfd
5:178416354 GRM6 G>C	5	178416354	178416354	G	C	GRM6	c.1065C>G	NM_000843.4	NP_000834.2:p.(Ile355Met)	NC_000005.9:g.178416354G>C	VUS	1 lab	0fdd366541
1:45294927 PTCH2 C>T	1	45294927	45294927	C	T	PTCH2	c.1273G>A	NM_003738.5	NP_003729.3:p.(Val425Met)	NC_000001.10:g.45294927C>T	VUS	1 lab	0fdf361735
5:177031548 B4GALT7 G>A	5	177031548	177031548	G	A	B4GALT7	c.413+6G>A	NM_007255.3	NP_009186.1:p.?	NC_000005.9:g.177031548G>A	(Likely) benign	1 lab	0fe28f3ca7
2:200320826 SATB2 A>G	2	200320826	200320826	A	G	SATB2	c.-59-7T>C	NM_001172509.2	NP_001165980.1:p.?	NC_000002.11:g.200320826A>G	(Likely) benign	1 lab	0fe2bf620f
5:132219166 AFF4 G>A	5	132219166	132219166	G	A	AFF4	c.3230C>T	NM_014423.4	NP_055238.1:p.(Ser1077Phe)	NC_000005.9:g.132219166G>A	VUS	1 lab	0fe33f2c3c
14:100405613 EML1 C>T	14	100405613	100405613	C	T	EML1	c.2271C>T	NM_004434.3	NP_004425.2:p.(Gly757=)	NC_000014.8:g.100405613C>T	(Likely) pathogenic	1 lab	0fe48a6117
1:27074191 ARID1A A>ATCC	1	27074191	27074192	A	ATCC	ARID1A	c.1921-13156_1921-13155insTCC	NM_006015.6	NP_006006.3:p.?	NC_000001.10:g.27074191_27074192insTCC	(Likely) benign	1 lab	0fe558bb4e
10:18940106 NSUN6 CAA>C	10	18940106	18940109	CAA	C	NSUN6	c.25_26del	NM_182543.5	NP_872349.1:p.(Leu9GlufsTer3)	NC_000010.10:g.18940108_18940109del	(Likely) pathogenic	1 lab	0fe6d7c907
2:37376027 EIF2AK2 C>T	2	37376027	37376027	C	T	EIF2AK2	c.-44G>A	NM_001135651.3	NP_001129123.1:p.?	NC_000002.11:g.37376027C>T	VUS	1 lab	0fe7f865a8
12:49432309 KMT2D T>C	12	49432309	49432309	T	C	KMT2D	c.8830A>G	NM_003482.4	NP_003473.3:p.(Asn2944Asp)	NC_000012.11:g.49432309T>C	(Likely) benign	1 lab	0fe8ebc5df
1:181759589 CACNA1E G>A	1	181759589	181759589	G	A	CACNA1E	c.5795G>A	NM_001205293.3	NP_001192222.1:p.(Arg1932Gln)	NC_000001.10:g.181759589G>A	VUS	1 lab	0fe98b8b3a
17:16855777 TNFRSF13B G>A	17	16855777	16855777	G	A	TNFRSF13B	c.182C>T	NM_012452.3	NP_036584.1:p.(Thr61Ile)	NC_000017.10:g.16855777G>A	VUS	1 lab	0fe9b1bbe3
9:109687882 ZNF462 ACAGCCACCACAGCTG>A	9	109687882	109687908	ACAGCCACCACAGCTG	A	ZNF462	c.1701_1715del	NM_021224.6	NP_067047.4:p.(Gln567_Pro571del)	NC_000009.11:g.109687894_109687908del	VUS	1 lab	0fea91eb4b
X:24197670 ZFX C>CGTTGGACAT	X	24197670	24197701	C	CGTTGGACAT	ZFX	c.452_460dup	NM_003410.4	NP_003401.2:p.(Gly151_Val153dup)	NC_000023.10:g.24197693_24197701dup	(Likely) benign	1 lab	0feab7b847
10:103342648 POLL C>T	10	103342648	103342648	C	T	POLL	c.1066G>A	NM_001174084.2	NP_001167555.1:p.(Gly356Ser)	NC_000010.10:g.103342648C>T	(Likely) benign	1 lab	0fec3b06c1
12:88530548 CEP290 C>T	12	88530548	88530548	C	T	CEP290	c.313G>A	NM_025114.4	NP_079390.3:p.(Ala105Thr)	NC_000012.11:g.88530548C>T	VUS	1 lab	0fec9f056b
5:127664820 FBN2 A>C	5	127664820	127664820	A	C	FBN2	c.4346-307T>G	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127664820A>C	(Likely) benign	1 lab	0fece8aa7e
3:196736638 MELTF C>G	3	196736638	196736638	C	G	MELTF	c.1376G>C	NM_005929.6	NP_005920.2:p.(Arg459Pro)	NC_000003.11:g.196736638C>G	(Likely) benign	1 lab	0fed519a54
10:75519531 SEC24C CCTT>C	10	75519531	75519538	CCTT	C	SEC24C	c.465_467del	NM_004922.4	NP_004913.2:p.(Ser156del)	NC_000010.10:g.75519536_75519538del	VUS	1 lab	1a33c5ad5f
19:1466145 APC2 G>A	19	1466145	1466145	G	A	APC2	c.2845G>A	NM_005883.3	NP_005874.1:p.(Ala949Thr)	NC_000019.9:g.1466145G>A	(Likely) benign	1 lab	0ff07c9559
6:143092493 HIVEP2 G>A	6	143092493	143092493	G	A	HIVEP2	c.3383C>T	NM_006734.4	NP_006725.3:p.(Pro1128Leu)	NC_000006.11:g.143092493G>A	(Likely) benign	1 lab	0ff11b3fbc
19:36340467 NPHS1 T>C	19	36340467	36340467	T	C	NPHS1	c.697A>G	NM_004646.4	NP_004637.1:p.(Thr233Ala)	NC_000019.9:g.36340467T>C	(Likely) benign	1 lab	0ff2316469
12:66345187 HMGA2 C>G	12	66345187	66345187	C	G	HMGA2	c.274C>G	NM_003483.6	NP_003474.1:p.(Pro92Ala)	NC_000012.11:g.66345187C>G	(Likely) benign	1 lab	0ff57018c3
11:680981 DEAF1 C>T	11	680981	680981	C	T	DEAF1	c.979G>A	NM_021008.4	NP_066288.2:p.(Ala327Thr)	NC_000011.9:g.680981C>T	VUS	1 lab	0ff8c0894f
9:94487349 ROR2 A>G	9	94487349	94487349	A	G	ROR2	c.1427T>C	NM_004560.4	NP_004551.2:p.(Met476Thr)	NC_000009.11:g.94487349A>G	VUS	1 lab	0ff8d23732
8:141370287 TRAPPC9 G>A	8	141370287	141370287	G	A	TRAPPC9	c.1357C>T	NM_001160372.4	NP_001153844.1:p.(His453Tyr)	NC_000008.10:g.141370287G>A	VUS	1 lab	0ffb5c670e
2:179466194 TTN C>A	2	179466194	179466194	C	A	TTN	c.55530G>T	NM_001267550.2	NP_001254479.2:p.(Arg18510Ser)	NC_000002.11:g.179466194C>A	VUS	1 lab	0ffe3c52be
2:179416473 TTN C>T	2	179416473	179416473	C	T	TTN	c.91154G>A	NM_001267550.2	NP_001254479.2:p.(Arg30385Lys)	NC_000002.11:g.179416473C>T	VUS	1 lab	0ffebed204
16:72830370 ZFHX3 T>G	16	72830370	72830370	T	G	ZFHX3	c.6211A>C	NM_006885.4	NP_008816.3:p.(Ile2071Leu)	NC_000016.9:g.72830370T>G	(Likely) benign	1 lab	0fffdde90f
19:48183566 BICRA T>C	19	48183566	48183566	T	C	BICRA	c.1139T>C	NM_015711.3	NP_056526.3:p.(Ile380Thr)	NC_000019.9:g.48183566T>C	VUS	1 lab	1a35a1acb8
15:42059366 MGA A>T	15	42059366	42059366	A	T	MGA	c.9233A>T	NM_001400225.1	NP_001387154.1:p.(Asn3078Ile)	NC_000015.9:g.42059366A>T	VUS	1 lab	100070d2d2
12:110230191 TRPV4 A>C	12	110230191	110230191	A	C	TRPV4	c.1868T>G	NM_021625.5	NP_067638.3:p.(Leu623Arg)	NC_000012.11:g.110230191A>C	VUS	1 lab	10020dc27d
16:2808502 SRRM2 C>T	16	2808502	2808502	C	T	SRRM2	c.547C>T	NM_016333.4	NP_057417.3:p.(Pro183Ser)	NC_000016.9:g.2808502C>T	VUS	1 lab	1002d0b12a
1:111494147 LRIF1 A>C	1	111494147	111494147	A	C	LRIF1	c.1359T>G	NM_018372.4	NP_060842.3:p.(Ser453=)	NC_000001.10:g.111494147A>C	(Likely) benign	1 lab	10030fc6a0
13:32705813 FRY C>T	13	32705813	32705813	C	T	FRY	c.721C>T	NM_023037.3	NP_075463.2:p.(Pro241Ser)	NC_000013.10:g.32705813C>T	VUS	1 lab	1003441e8f
3:135913861 MSL2 T>C	3	135913861	135913861	T	C	MSL2	c.95A>G	NM_018133.4	NP_060603.2:p.(Asn32Ser)	NC_000003.11:g.135913861T>C	(Likely) benign	1 lab	1003dfb132
6:100960752 ASCC3 T>C	6	100960752	100960752	T	C	ASCC3	c.6118A>G	NM_006828.4	NP_006819.2:p.(Ile2040Val)	NC_000006.11:g.100960752T>C	(Likely) benign	1 lab	10076e83f9
1:154221912 UBAP2L T>C	1	154221912	154221912	T	C	UBAP2L	c.1212T>C	NM_014847.4	NP_055662.3:p.(Tyr404=)	NC_000001.10:g.154221912T>C	(Likely) benign	1 lab	10087cdf3a
6:117240379 RFX6 C>G	6	117240379	117240379	C	G	RFX6	c.1102C>G	NM_173560.4	NP_775831.2:p.(Leu368Val)	NC_000006.11:g.117240379C>G	VUS	1 lab	100b3fd740
2:39250293 SOS1 G>T	2	39250293	39250293	G	T	SOS1	c.1276C>A	NM_005633.4	NP_005624.2:p.(Gln426Lys)	NC_000002.11:g.39250293G>T	VUS	1 lab	1a367363d2
X:119681004 CUL4B G>C	X	119681004	119681004	G	C	CUL4B	c.763C>G	NM_001079872.2	NP_001073341.1:p.(His255Asp)	NC_000023.10:g.119681004G>C	VUS	1 lab	100ec537bd
16:67226272 E2F4 C>T	16	67226272	67226272	C	T	E2F4	c.135+7C>T	NM_001950.4	NP_001941.2:p.?	NC_000016.9:g.67226272C>T	VUS	1 lab	100f3d92e9
2:84930694 DNAH6 G>A	2	84930694	84930694	G	A	DNAH6	c.8229+8G>A	NM_001370.2	NP_001361.1:p.?	NC_000002.11:g.84930694G>A	VUS	1 lab	100fdc55a6
7:100275121 GNB2 G>A	7	100275121	100275121	G	A	GNB2	c.268G>A	NM_005273.4	NP_005264.2:p.(Val90Ile)	NC_000007.13:g.100275121G>A	VUS	1 lab	10101b13e2
1:1958993 GABRD C>T	1	1958993	1958993	C	T	GABRD	c.471-23C>T	NM_000815.5	NP_000806.2:p.?	NC_000001.10:g.1958993C>T	(Likely) benign	1 lab	1a85216c33
14:51196251 NIN T>C	14	51196251	51196251	T	C	NIN	c.6068A>G	NM_020921.4	NP_065972.4:p.(Asn2023Ser)	NC_000014.8:g.51196251T>C	(Likely) benign	1 lab	1012ad247f
11:89704428 TRIM64 T>G	11	89704428	89704428	T	G	TRIM64	c.758+5T>G	NM_001136486.2	NP_001129958.1:p.?	NC_000011.9:g.89704428T>G	(Likely) benign	1 lab	101348c5eb
1:150902440 SETDB1 T>C	1	150902440	150902440	T	C	SETDB1	c.261-3T>C	NM_001366418.1	NP_001353347.1:p.?	NC_000001.10:g.150902440T>C	(Likely) benign	1 lab	10149ddec6
16:2140364 PKD1 C>T	16	2140364	2140364	C	T	PKD1	c.12366G>A	NM_001009944.3	NP_001009944.3:p.(Trp4122Ter)	NC_000016.9:g.2140364C>T	(Likely) pathogenic	1 lab	101511bc9b
15:100881533 ADAMTS17 G>A	15	100881533	100881533	G	A	ADAMTS17	c.161C>T	NM_139057.4	NP_620688.2:p.(Pro54Leu)	NC_000015.9:g.100881533G>A	VUS	1 lab	101601d756
15:99478211 IGF1R G>A	15	99478211	99478211	G	A	IGF1R	c.3115G>A	NM_000875.5	NP_000866.1:p.(Ala1039Thr)	NC_000015.9:g.99478211G>A	(Likely) benign	1 lab	10176602ea
12:102179849 GNPTAB G>A	12	102179849	102179849	G	A	GNPTAB	c.512C>T	NM_024312.5	NP_077288.2:p.(Ala171Val)	NC_000012.11:g.102179849G>A	VUS	1 lab	1018d3946e
5:149435875 CSF1R G>A	5	149435875	149435875	G	A	CSF1R	c.2349C>T	NM_001288705.3	NP_001275634.1:p.(Asn783=)	NC_000005.9:g.149435875G>A	(Likely) benign	1 lab	1019fd9807
16:2164354 PKD1 G>A	16	2164354	2164354	G	A	PKD1	c.2670C>T	NM_001009944.3	NP_001009944.3:p.(Asn890=)	NC_000016.9:g.2164354G>A	(Likely) benign	1 lab	101ab44ce9
X:135574352 BRS3 C>A	X	135574352	135574352	C	A	BRS3	c.1018C>A	NM_001727.2	NP_001718.1:p.(His340Asn)	NC_000023.10:g.135574352C>A	VUS	1 lab	101aec4321
X:3021892 ARSF A>G	X	3021892	3021892	A	G	ARSF	c.1192A>G	NM_001201539.2	NP_001188468.1:p.(Lys398Glu)	NC_000023.10:g.3021892A>G	(Likely) benign	1 lab	101b12ab92
16:3639229 SLX4 CG>C	16	3639229	3639233	CG	C	SLX4	c.4409del	NM_032444.4	NP_115820.2:p.(Pro1470ArgfsTer37)	NC_000016.9:g.3639233del	VUS	1 lab	101ba7c68d
6:148808775 SASH1 G>A	6	148808775	148808775	G	A	SASH1	c.653G>A	NM_015278.5	NP_056093.3:p.(Arg218Gln)	NC_000006.11:g.148808775G>A	VUS	1 lab	101c7c8a0d
9:116356395 RGS3 G>T	9	116356395	116356395	G	T	RGS3	c.2745-315G>T	NM_001394167.1	NP_001381096.1:p.?	NC_000009.11:g.116356395G>T	VUS	1 lab	101cb1d8b8
4:187630241 FAT1 G>A	4	187630241	187630241	G	A	FAT1	c.741C>T	NM_005245.4	NP_005236.2:p.(Ile247=)	NC_000004.11:g.187630241G>A	(Likely) benign	1 lab	1a85893115
11:118355049 KMT2A A>G	11	118355049	118355049	A	G	KMT2A	c.4218+20A>G	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118355049A>G	(Likely) benign	1 lab	101cfef634
12:57406154 TAC3 A>G	12	57406154	57406154	A	G	TAC3	c.*1+8T>C	NM_013251.4	NP_037383.1:p.?	NC_000012.11:g.57406154A>G	(Likely) benign	1 lab	101dfa3778
3:39433001 SLC25A38 T>G	3	39433001	39433001	T	G	SLC25A38	c.346T>G	NM_017875.4	NP_060345.2:p.(Leu116Val)	NC_000003.11:g.39433001T>G	(Likely) benign	1 lab	101e2f9eb6
12:88465114 CEP290 T>G	12	88465114	88465114	T	G	CEP290	c.5968A>C	NM_025114.4	NP_079390.3:p.(Lys1990Gln)	NC_000012.11:g.88465114T>G	(Likely) benign	1 lab	101e973a01
10:97386497 ALDH18A1 G>T	10	97386497	97386497	G	T	ALDH18A1	c.1115C>A	NM_002860.4	NP_002851.2:p.(Ser372Tyr)	NC_000010.10:g.97386497G>T	(Likely) benign	1 lab	101ea40e82
2:169999195 LRP2 T>C	2	169999195	169999195	T	C	LRP2	c.13097A>G	NM_004525.3	NP_004516.2:p.(Glu4366Gly)	NC_000002.11:g.169999195T>C	(Likely) benign	1 lab	10211a776c
16:89347057 ANKRD11 C>T	16	89347057	89347057	C	T	ANKRD11	c.5893G>A	NM_013275.6	NP_037407.4:p.(Gly1965Ser)	NC_000016.9:g.89347057C>T	VUS	1 lab	1021b0af7d
3:58109109 FLNB C>T	3	58109109	58109109	C	T	FLNB	c.3416C>T	NM_001457.4	NP_001448.2:p.(Ser1139Leu)	NC_000003.11:g.58109109C>T	VUS	1 lab	1023152d49
5:177031401 B4GALT7 G>T	5	177031401	177031401	G	T	B4GALT7	c.272G>T	NM_007255.3	NP_009186.1:p.(Gly91Val)	NC_000005.9:g.177031401G>T	VUS	1 lab	1024503b14
11:14899811 CYP2R1 G>A	11	14899811	14899811	G	A	CYP2R1	c.1363C>T	NM_024514.5	NP_078790.2:p.(Arg455Trp)	NC_000011.9:g.14899811G>A	(Likely) benign	1 lab	1024bf9107
17:29549007 NF1 GAAA>G	17	29549007	29549010	GAAA	G	NF1	c.1721+61_1721+63del	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29549008_29549010del	VUS	1 lab	1024d72346
13:39435568 FREM2 G>GTTTTT	13	39435568	39435570	G	GTTTTT	FREM2	c.7521_7522insTTTTT	NM_207361.6	NP_997244.4:p.(Leu2508PhefsTer44)	NC_000013.10:g.39435569_39435570insTTTTT	(Likely) benign	1 lab	1025fec5cc
19:39230791 CAPN12 C>G	19	39230791	39230791	C	G	CAPN12	c.629G>C	NM_144691.4	NP_653292.2:p.(Gly210Ala)	NC_000019.9:g.39230791C>G	VUS	1 lab	10268d13cc
3:197427757 RUBCN A>C	3	197427757	197427757	A	C	RUBCN	c.988T>G	NM_014687.4	NP_055502.1:p.(Leu330Val)	NC_000003.11:g.197427757A>C	VUS	1 lab	10278e75f3
1:226108909 PYCR2 G>A	1	226108909	226108909	G	A	PYCR2	c.796C>T	NM_013328.4	NP_037460.2:p.(Arg266Ter)	NC_000001.10:g.226108909G>A	(Likely) pathogenic	1 lab	1027d16984
7:47897354 PKD1L1 G>C	7	47897354	47897354	G	C	PKD1L1	c.4439C>G	NM_138295.5	NP_612152.1:p.(Ser1480Cys)	NC_000007.13:g.47897354G>C	VUS	1 lab	1028831200
15:89398790 ACAN A>C	15	89398790	89398790	A	C	ACAN	c.2974A>C	NM_001369268.1	NP_001356197.1:p.(Ile992Leu)	NC_000015.9:g.89398790A>C	(Likely) benign	1 lab	102911e356
19:7163188 INSR T>C	19	7163188	7163188	T	C	INSR	c.1884A>G	NM_000208.4	NP_000199.2:p.(Pro628=)	NC_000019.9:g.7163188T>C	(Likely) benign	1 lab	102a12e115
16:75590013 TMEM231 G>A	16	75590013	75590013	G	A	TMEM231	c.95C>T	NM_001077418.3	NP_001070886.1:p.(Ala32Val)	NC_000016.9:g.75590013G>A	(Likely) benign	1 lab	102b72ebac
19:13445573 CACNA1A G>C	19	13445573	13445573	G	C	CACNA1A	c.1083-266C>G	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13445573G>C	(Likely) benign	1 lab	102b782909
4:160274998 RAPGEF2 G>A	4	160274998	160274998	G	A	RAPGEF2	c.4451G>A	NM_001394067.2	NP_001380996.1:p.(Arg1484Gln)	NC_000004.11:g.160274998G>A	(Likely) benign	1 lab	102c8bdfd6
14:105692601 BRF1 C>G	14	105692601	105692601	C	G	BRF1	c.942G>C	NM_001519.4	NP_001510.2:p.(Leu314=)	NC_000014.8:g.105692601C>G	(Likely) benign	1 lab	102e7b0293
11:94180612 MRE11 G>A	11	94180612	94180612	G	A	MRE11	c.1564-8C>T	NM_005591.4	NP_005582.1:p.?	NC_000011.9:g.94180612G>A	(Likely) benign	1 lab	102f14337d
22:41527464 EP300 A>G	22	41527464	41527464	A	G	EP300	c.1355A>G	NM_001429.4	NP_001420.2:p.(Asn452Ser)	NC_000022.10:g.41527464A>G	(Likely) benign	1 lab	102fa3251a
3:129275916 PLXND1 G>A	3	129275916	129275916	G	A	PLXND1	c.5586+10C>T	NM_015103.3	NP_055918.3:p.?	NC_000003.11:g.129275916G>A	(Likely) benign	1 lab	102fd539d9
1:220161990 EPRS1 T>C	1	220161990	220161990	T	C	EPRS1	c.2717A>G	NM_004446.3	NP_004437.2:p.(Asp906Gly)	NC_000001.10:g.220161990T>C	(Likely) benign	1 lab	103038571c
19:17283739 MYO9B C>T	19	17283739	17283739	C	T	MYO9B	c.2107C>T	NM_004145.4	NP_004136.2:p.(Arg703Cys)	NC_000019.9:g.17283739C>T	VUS	1 lab	1030c7aa86
X:106205242 MORC4 G>A	X	106205242	106205242	G	A	MORC4	c.1256C>T	NM_024657.5	NP_078933.3:p.(Pro419Leu)	NC_000023.10:g.106205242G>A	(Likely) benign	1 lab	104192e60f
12:49431225 KMT2D C>T	12	49431225	49431225	C	T	KMT2D	c.9914G>A	NM_003482.4	NP_003473.3:p.(Ser3305Asn)	NC_000012.11:g.49431225C>T	VUS	1 lab	1034b51021
15:99434720 IGF1R C>T	15	99434720	99434720	C	T	IGF1R	c.807C>T	NM_000875.5	NP_000866.1:p.(Tyr269=)	NC_000015.9:g.99434720C>T	(Likely) benign	1 lab	1037541080
4:1940143 NSD2 CTTTTTTTTTT>C	4	1940143	1940168	CTTTTTTTTTT	C	NSD2	c.1675-19_1675-10del	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1940159_1940168del	VUS	1 lab	1037abea70
20:23618300 CST3 A>C	20	23618300	23618300	A	C	CST3	c.200T>G	NM_000099.4	NP_000090.1:p.(Met67Arg)	NC_000020.10:g.23618300A>C	(Likely) benign	1 lab	10381a667a
7:98490062 TRRAP G>A	7	98490062	98490062	G	A	TRRAP	c.277G>A	NM_001375524.1	NP_001362453.1:p.(Val93Ile)	NC_000007.13:g.98490062G>A	VUS	1 lab	103a18746a
2:95943296 PROM2 G>A	2	95943296	95943296	G	A	PROM2	c.957G>A	NM_001165978.3	NP_001159450.1:p.(Leu319=)	NC_000002.11:g.95943296G>A	(Likely) benign	1 lab	103a71fc4c
6:79752720 PHIP G>A	6	79752720	79752720	G	A	PHIP	c.440C>T	NM_017934.7	NP_060404.4:p.(Ala147Val)	NC_000006.11:g.79752720G>A	(Likely) benign	1 lab	103b9f335d
4:102839351 BANK1 G>GT	4	102839351	102839361	G	GT	BANK1	c.1206+15dup	NM_017935.5	NP_060405.5:p.?	NC_000004.11:g.102839361dup	VUS	1 lab	103c2f0f72
18:48575650 SMAD4 C>G	18	48575650	48575650	C	G	SMAD4	c.425-15C>G	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48575650C>G	VUS	1 lab	103d13eb70
8:144941717 EPPK1 AC>A	8	144941717	144941722	AC	A	EPPK1	c.5704del	NM_031308.4	NP_112598.3:p.(Val1902SerfsTer10)	NC_000008.10:g.144941722del	(Likely) benign	1 lab	103d16c5cd
16:30990721 SETD1A G>A	16	30990721	30990721	G	A	SETD1A	c.3614G>A	NM_014712.3	NP_055527.1:p.(Arg1205Gln)	NC_000016.9:g.30990721G>A	(Likely) benign	1 lab	1a36a4a598
19:42778679 CIC C>A	19	42778679	42778679	C	A	CIC	c.2744C>A	NM_001386298.1	NP_001373227.1:p.(Thr915Asn)	NC_000019.9:g.42778679C>A	VUS	1 lab	10410eb293
20:17956420 MGME1 A>C	20	17956420	17956420	A	C	MGME1	c.605A>C	NM_052865.4	NP_443097.1:p.(Lys202Thr)	NC_000020.10:g.17956420A>C	VUS	1 lab	1041f2f4fc
6:135621632 AHI1 G>A	6	135621632	135621632	G	A	AHI1	c.3485+6C>T	NM_001134831.2	NP_001128303.1:p.?	NC_000006.11:g.135621632G>A	VUS	1 lab	104253dc1e
22:31345769 MORC2 G>C	22	31345769	31345769	G	C	MORC2	c.286C>G	NM_001303256.3	NP_001290185.1:p.(Gln96Glu)	NC_000022.10:g.31345769G>C	VUS	1 lab	1043a6b7e3
9:134073760 NUP214 G>A	9	134073760	134073760	G	A	NUP214	c.4879G>A	NM_005085.4	NP_005076.3:p.(Gly1627Ser)	NC_000009.11:g.134073760G>A	(Likely) benign	1 lab	1045107878
2:220419407 OBSL1 GC>G	2	220419407	220419413	GC	G	OBSL1	c.4664del	NM_015311.3	NP_056126.1:p.(Gly1555AlafsTer14)	NC_000002.11:g.220419413del	VUS	1 lab	10454fc832
22:42456336 NAGA C>A	22	42456336	42456336	C	A	NAGA	c.1183G>T	NM_000262.3	NP_000253.1:p.(Val395Leu)	NC_000022.10:g.42456336C>A	VUS	1 lab	1046f12dc0
8:61769355 CHD7 G>C	8	61769355	61769355	G	C	CHD7	c.7516G>C	NM_017780.4	NP_060250.2:p.(Glu2506Gln)	NC_000008.10:g.61769355G>C	VUS	1 lab	1048391b52
21:45826657 TRPM2 C>T	21	45826657	45826657	C	T	TRPM2	c.2962+9C>T	NM_003307.4	NP_003298.2:p.?	NC_000021.8:g.45826657C>T	(Likely) benign	1 lab	104841f462
4:5664982 EVC2 G>A	4	5664982	5664982	G	A	EVC2	c.1006-9C>T	NM_147127.5	NP_667338.3:p.?	NC_000004.11:g.5664982G>A	(Likely) benign	1 lab	104980024b
7:74325685 SPDYE12 G>A	7	74325685	74325685	G	A	SPDYE12	c.431C>T	NM_001382555.2	NP_001369484.1:p.(Ala144Val)	NC_000007.13:g.74325685G>A	VUS	1 lab	1049e51ff5
X:53448859 SMC1A T>G	X	53448859	53448859	T	G	SMC1A	c.109+582A>C	NM_006306.4	NP_006297.2:p.?	NC_000023.10:g.53448859T>G	(Likely) benign	1 lab	104a33e5f7
12:132626704 DDX51 C>T	12	132626704	132626704	C	T	DDX51	c.848G>A	NM_175066.4	NP_778236.2:p.(Arg283His)	NC_000012.11:g.132626704C>T	VUS	1 lab	104bf0ffbd
19:7132218 INSR C>T	19	7132218	7132218	C	T	INSR	c.2793G>A	NM_000208.4	NP_000199.2:p.(Ala931=)	NC_000019.9:g.7132218C>T	(Likely) benign	1 lab	104c074e02
9:131012455 DNM1 C>T	9	131012455	131012455	C	T	DNM1	c.2138C>T	NM_004408.4	NP_004399.2:p.(Thr713Met)	NC_000009.11:g.131012455C>T	(Likely) benign	1 lab	104e4af7a6
13:73396034 PIBF1 T>G	13	73396034	73396034	T	G	PIBF1	c.720T>G	NM_006346.4	NP_006337.2:p.(Cys240Trp)	NC_000013.10:g.73396034T>G	VUS	1 lab	105037ab8e
6:74191932 MTO1 G>A	6	74191932	74191932	G	A	MTO1	c.1430G>A	NM_012123.4	NP_036255.2:p.(Arg477His)	NC_000006.11:g.74191932G>A	(Likely) pathogenic	1 lab	105038b98f
1:152277182 FLG CAT>C	1	152277182	152277184	CAT	C	FLG	c.10178_10179del	NM_002016.2	NP_002007.1:p.(His3393ArgfsTer4)	NC_000001.10:g.152277183_152277184del	(Likely) pathogenic	1 lab	10534f3efa
2:48028085 MSH6 G>T	2	48028085	48028085	G	T	MSH6	c.2963G>T	NM_000179.3	NP_000170.1:p.(Arg988Leu)	NC_000002.11:g.48028085G>T	VUS	1 lab	10550ca8df
19:6309845 ACER1 C>A	19	6309845	6309845	C	A	ACER1	c.351G>T	NM_133492.3	NP_597999.1:p.(Arg117Ser)	NC_000019.9:g.6309845C>A	VUS	1 lab	1055835cdd
5:78076288 ARSB C>T	5	78076288	78076288	C	T	ARSB	c.1534G>A	NM_000046.5	NP_000037.2:p.(Val512Met)	NC_000005.9:g.78076288C>T	VUS	1 lab	1074fc37f5
7:69449156 AUTS2 C>A	7	69449156	69449156	C	A	AUTS2	c.522+84672C>A	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69449156C>A	(Likely) benign	1 lab	105598e221
5:60678475 ZSWIM6 C>T	5	60678475	60678475	C	T	ZSWIM6	c.676+49700C>T	NM_020928.2	NP_065979.1:p.?	NC_000005.9:g.60678475C>T	(Likely) benign	1 lab	1055a60284
15:81571190 IL16 A>G	15	81571190	81571190	A	G	IL16	c.823A>G	NM_172217.5	NP_757366.2:p.(Met275Val)	NC_000015.9:g.81571190A>G	VUS	1 lab	10579c1c1f
20:62191852 HELZ2 G>C	20	62191852	62191852	G	C	HELZ2	c.7480C>G	NM_001037335.2	NP_001032412.2:p.(Leu2494Val)	NC_000020.10:g.62191852G>C	(Likely) benign	1 lab	10581ce9d8
15:23932244 NDN G>A	15	23932244	23932244	G	A	NDN	c.121C>T	NM_002487.3	NP_002478.1:p.(Pro41Ser)	NC_000015.9:g.23932244G>A	(Likely) benign	1 lab	10593b7e54
16:89882399 FANCA G>C	16	89882399	89882399	G	C	FANCA	c.80-5C>G	NM_000135.4	NP_000126.2:p.?	NC_000016.9:g.89882399G>C	VUS	1 lab	10595704aa
20:45905345 ZMYND8 A>G	20	45905345	45905345	A	G	ZMYND8	c.1193T>C	NM_001281775.3	NP_001268704.1:p.(Leu398Pro)	NC_000020.10:g.45905345A>G	VUS	1 lab	105a20f73f
3:48508689 TREX1 C>A	3	48508689	48508689	C	A	TREX1	c.635C>A	NM_033629.6	NP_338599.1:p.(Pro212Gln)	NC_000003.11:g.48508689C>A	VUS	1 lab	105a6db20c
14:105411648 AHNAK2 G>C	14	105411648	105411648	G	C	AHNAK2	c.10140C>G	NM_138420.4	NP_612429.2:p.(His3380Gln)	NC_000014.8:g.105411648G>C	(Likely) benign	1 lab	105c66a4aa
2:214204937 SPAG16 G>A	2	214204937	214204937	G	A	SPAG16	c.587G>A	NM_024532.5	NP_078808.3:p.(Arg196Gln)	NC_000002.11:g.214204937G>A	(Likely) benign	1 lab	105d815693
12:108169194 ASCL4 A>G	12	108169194	108169194	A	G	ASCL4	c.199A>G	NM_203436.3	NP_982260.3:p.(Ser67Gly)	NC_000012.11:g.108169194A>G	VUS	1 lab	105db6b466
8:105503667 LRP12 C>T	8	105503667	105503667	C	T	LRP12	c.1814G>A	NM_013437.5	NP_038465.1:p.(Arg605His)	NC_000008.10:g.105503667C>T	(Likely) benign	1 lab	105e72e928
19:17449019 GTPBP3 C>T	19	17449019	17449019	C	T	GTPBP3	c.256C>T	NM_032620.4	NP_116009.2:p.(Arg86Cys)	NC_000019.9:g.17449019C>T	(Likely) benign	1 lab	105f2e78da
6:41565512 FOXP4 C>G	6	41565512	41565512	C	G	FOXP4	c.1726-7C>G	NM_001012426.2	NP_001012426.1:p.?	NC_000006.11:g.41565512C>G	(Likely) benign	1 lab	105f9cafa5
6:161522929 MAP3K4 C>T	6	161522929	161522929	C	T	MAP3K4	c.3680C>T	NM_005922.4	NP_005913.3:p.(Ser1227Phe)	NC_000006.11:g.161522929C>T	VUS	1 lab	1060e62129
18:10857097 PIEZO2 C>A	18	10857097	10857097	C	A	PIEZO2	c.605G>T	NM_001378183.1	NP_001365112.1:p.(Arg202Leu)	NC_000018.9:g.10857097C>A	VUS	1 lab	10614370dc
16:2139958 PKD1 G>A	16	2139958	2139958	G	A	PKD1	c.12682C>T	NM_001009944.3	NP_001009944.3:p.(Arg4228Ter)	NC_000016.9:g.2139958G>A	(Likely) pathogenic	1 lab	1063445fd1
19:39075695 RYR1 C>A	19	39075695	39075695	C	A	RYR1	c.14759C>A	NM_000540.3	NP_000531.2:p.(Thr4920Asn)	NC_000019.9:g.39075695C>A	(Likely) pathogenic	1 lab	10646ea66f
2:179419201 TTN C>T	2	179419201	179419201	C	T	TTN	c.88873G>A	NM_001267550.2	NP_001254479.2:p.(Val29625Ile)	NC_000002.11:g.179419201C>T	VUS	1 lab	10664d345d
16:23619210 PALB2 A>G	16	23619210	23619210	A	G	PALB2	c.3325T>C	NM_024675.4	NP_078951.2:p.(Cys1109Arg)	NC_000016.9:g.23619210A>G	VUS	1 lab	106653c2b2
7:124493127 POT1 C>G	7	124493127	124493127	C	G	POT1	c.768G>C	NM_015450.3	NP_056265.2:p.(Gln256His)	NC_000007.13:g.124493127C>G	VUS	1 lab	1068f1e0bd
7:286412 FAM20C T>A	7	286412	286412	T	A	FAM20C	c.895T>A	NM_020223.4	NP_064608.2:p.(Phe299Ile)	NC_000007.13:g.286412T>A	VUS	1 lab	1069bc76da
17:38320379 CASC3 T>G	17	38320379	38320379	T	G	CASC3	c.1431T>G	NM_007359.5	NP_031385.2:p.(Ser477Arg)	NC_000017.10:g.38320379T>G	VUS	1 lab	106b28103c
16:58615359 CNOT1 G>A	16	58615359	58615359	G	A	CNOT1	c.1105C>T	NM_016284.5	NP_057368.3:p.(Arg369Cys)	NC_000016.9:g.58615359G>A	(Likely) benign	1 lab	106d7ecf86
6:152734480 SYNE1 G>T	6	152734480	152734480	G	T	SYNE1	c.6230+7C>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152734480G>T	(Likely) benign	1 lab	106edb1d83
4:110773108 LRIT3 C>T	4	110773108	110773108	C	T	LRIT3	c.565C>T	NM_198506.5	NP_940908.3:p.(Leu189Phe)	NC_000004.11:g.110773108C>T	(Likely) benign	1 lab	10713a99aa
10:97453517 TCTN3 A>G	10	97453517	97453517	A	G	TCTN3	c.140T>C	NM_015631.6	NP_056446.4:p.(Leu47Pro)	NC_000010.10:g.97453517A>G	(Likely) benign	1 lab	1072e111c4
13:111130470 COL4A2 A>C	13	111130470	111130470	A	C	COL4A2	c.2546A>C	NM_001846.4	NP_001837.2:p.(Gln849Pro)	NC_000013.10:g.111130470A>C	VUS	1 lab	10736778aa
7:31016908 GHRHR G>A	7	31016908	31016908	G	A	GHRHR	c.1117G>A	NM_000823.4	NP_000814.2:p.(Ala373Thr)	NC_000007.13:g.31016908G>A	VUS	1 lab	1073a26896
12:116399088 MED13L T>C	12	116399088	116399088	T	C	MED13L	c.6616A>G	NM_015335.5	NP_056150.1:p.(Ile2206Val)	NC_000012.11:g.116399088T>C	VUS	1 lab	1073c8138c
7:107626769 LAMB1 C>T	7	107626769	107626769	C	T	LAMB1	c.463G>A	NM_002291.3	NP_002282.2:p.(Asp155Asn)	NC_000007.13:g.107626769C>T	VUS	1 lab	10748b79cb
3:9934489 JAGN1 C>T	3	9934489	9934489	C	T	JAGN1	c.90-110C>T	NM_032492.4	NP_115881.3:p.?	NC_000003.11:g.9934489C>T	VUS	1 lab	1075cbc9ba
16:30594156 ZNF785 G>T	16	30594156	30594156	G	T	ZNF785	c.943C>A	NM_152458.7	NP_689671.2:p.(Pro315Thr)	NC_000016.9:g.30594156G>T	(Likely) benign	1 lab	1079982bdf
3:183957251 VWA5B2 T>A	3	183957251	183957251	T	A	VWA5B2	c.2272T>A	NM_001390846.1	NP_001377775.1:p.(Ser758Thr)	NC_000003.11:g.183957251T>A	VUS	1 lab	107a2cd395
5:127641284 FBN2 C>A	5	127641284	127641284	C	A	FBN2	c.5593G>T	NM_001999.4	NP_001990.2:p.(Ala1865Ser)	NC_000005.9:g.127641284C>A	VUS	1 lab	107a650d88
15:48902952 FBN1 T>A	15	48902952	48902952	T	A	FBN1	c.319A>T	NM_000138.5	NP_000129.3:p.(Ile107Leu)	NC_000015.9:g.48902952T>A	(Likely) benign	1 lab	107b22d651
21:46888626 COL18A1 C>T	21	46888626	46888626	C	T	COL18A1	c.577C>T	NM_001379500.1	NP_001366429.1:p.(Arg193Trp)	NC_000021.8:g.46888626C>T	VUS	1 lab	107b98ce6c
1:38058381 GNL2 G>A	1	38058381	38058381	G	A	GNL2	c.176C>T	NM_013285.3	NP_037417.1:p.(Pro59Leu)	NC_000001.10:g.38058381G>A	VUS	1 lab	107dc9d19d
19:7126637 INSR G>T	19	7126637	7126637	G	T	INSR	c.2971C>A	NM_000208.4	NP_000199.2:p.(Leu991Ile)	NC_000019.9:g.7126637G>T	(Likely) benign	1 lab	108075ac79
16:89468933 ANKRD11 T>G	16	89468933	89468933	T	G	ANKRD11	c.-60+15759A>C	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89468933T>G	(Likely) benign	1 lab	10812dfee8
2:228118036 COL4A3 G>A	2	228118036	228118036	G	A	COL4A3	c.670G>A	NM_000091.5	NP_000082.2:p.(Gly224Arg)	NC_000002.11:g.228118036G>A	VUS	1 lab	108289cb28
15:37184415 MEIS2 G>C	15	37184415	37184415	G	C	MEIS2	c.1393C>G	NM_170675.5	NP_733775.1:p.(Pro465Ala)	NC_000015.9:g.37184415G>C	VUS	1 lab	1082cb10da
1:101479331 DPH5 C>T	1	101479331	101479331	C	T	DPH5	c.304G>A	NM_015958.3	NP_057042.2:p.(Gly102Arg)	NC_000001.10:g.101479331C>T	VUS	1 lab	108333dbfb
15:79092593 ADAMTS7 C>T	15	79092593	79092593	C	T	ADAMTS7	c.397G>A	NM_014272.5	NP_055087.2:p.(Glu133Lys)	NC_000015.9:g.79092593C>T	VUS	1 lab	108367d9e1
20:62326867 RTEL1 A>G	20	62326867	62326867	A	G	RTEL1	c.3686A>G	NM_001283009.2	NP_001269938.1:p.(Gln1229Arg)	NC_000020.10:g.62326867A>G	(Likely) benign	1 lab	1083abb3bb
X:105167387 NRK A>T	X	105167387	105167387	A	T	NRK	c.2888A>T	NM_198465.4	NP_940867.2:p.(Asn963Ile)	NC_000023.10:g.105167387A>T	VUS	1 lab	10846c3836
17:73089750 SLC16A5 C>T	17	73089750	73089750	C	T	SLC16A5	c.19C>T	NM_004695.4	NP_004686.1:p.(Arg7Cys)	NC_000017.10:g.73089750C>T	(Likely) benign	1 lab	1086166cb8
10:75391871 MYOZ1 G>C	10	75391871	75391871	G	C	MYOZ1	c.717C>G	NM_021245.4	NP_067068.1:p.(Thr239=)	NC_000010.10:g.75391871G>C	(Likely) benign	1 lab	1a8bf21ac7
21:47537882 COL6A2 G>A	21	47537882	47537882	G	A	COL6A2	c.1116+32G>A	NM_058175.2	NP_478055.2:p.?	NC_000021.8:g.47537882G>A	(Likely) benign	1 lab	f45a9bda0f
11:14330099 RRAS2 C>T	11	14330099	14330099	C	T	RRAS2	c.109-12698G>A	NM_012250.6	NP_036382.2:p.?	NC_000011.9:g.14330099C>T	(Likely) benign	1 lab	1089a4702a
20:49508015 ADNP T>C	20	49508015	49508015	T	C	ADNP	c.3236A>G	NM_001282531.3	NP_001269460.1:p.(Asn1079Ser)	NC_000020.10:g.49508015T>C	(Likely) benign	1 lab	108babbc68
2:220362593 SPEGNB G>C	2	220362593	220362593	G	C	SPEGNB	c.578+10G>C	NM_001286811.2	NP_001273740.1:p.?	NC_000002.11:g.220362593G>C	(Likely) benign	1 lab	108c53c52d
19:55673661 DNAAF3 AC>A	19	55673661	55673662	AC	A	DNAAF3	c.323-4del	NM_001256715.2	NP_001243644.1:p.?	NC_000019.9:g.55673662del	(Likely) benign	1 lab	108c96ddb4
X:49597176 PAGE4 G>A	X	49597176	49597176	G	A	PAGE4	c.215G>A	NM_007003.4	NP_008934.1:p.(Arg72Gln)	NC_000023.10:g.49597176G>A	(Likely) benign	1 lab	108ea0d07a
1:210856855 KCNH1 G>A	1	210856855	210856855	G	A	KCNH1	c.2738C>T	NM_172362.3	NP_758872.1:p.(Ser913Leu)	NC_000001.10:g.210856855G>A	VUS	1 lab	109012473f
20:61467648 COL9A3 C>T	20	61467648	61467648	C	T	COL9A3	c.1511C>T	NM_001853.4	NP_001844.3:p.(Pro504Leu)	NC_000020.10:g.61467648C>T	(Likely) benign	1 lab	1090429692
10:104591245 CYP17A1 G>A	10	104591245	104591245	G	A	CYP17A1	c.1243+20C>T	NM_000102.4	NP_000093.1:p.?	NC_000010.10:g.104591245G>A	(Likely) benign	1 lab	1a8fb2d31f
18:50936947 DCC C>T	18	50936947	50936947	C	T	DCC	c.3061C>T	NM_005215.4	NP_005206.2:p.(Arg1021Ter)	NC_000018.9:g.50936947C>T	(Likely) pathogenic	1 lab	10925872af
5:60839492 ZSWIM6 C>T	5	60839492	60839492	C	T	ZSWIM6	c.2996C>T	NM_020928.2	NP_065979.1:p.(Ala999Val)	NC_000005.9:g.60839492C>T	(Likely) benign	1 lab	10930b1874
2:112630273 ANAPC1 G>A	2	112630273	112630273	G	A	ANAPC1	c.545C>T	NM_022662.4	NP_073153.1:p.(Pro182Leu)	NC_000002.11:g.112630273G>A	VUS	1 lab	109315e427
3:183960379 ALG3 C>T	3	183960379	183960379	C	T	ALG3	c.1240G>A	NM_005787.6	NP_005778.1:p.(Ala414Thr)	NC_000003.11:g.183960379C>T	VUS	1 lab	10943bf667
1:241667233 FH C>T	1	241667233	241667233	C	T	FH	c.1108+109G>A	NM_000143.3	NP_000134.2:p.?	NC_000001.10:g.241667233C>T	(Likely) benign	1 lab	f7852c7503
7:82581523 PCLO T>G	7	82581523	82581523	T	G	PCLO	c.8746A>C	NM_033026.6	NP_149015.2:p.(Thr2916Pro)	NC_000007.13:g.82581523T>G	(Likely) benign	1 lab	1095ac95a0
8:11615887 GATA4 C>T	8	11615887	11615887	C	T	GATA4	c.1235C>T	NM_001308093.3	NP_001295022.1:p.(Ala412Val)	NC_000008.10:g.11615887C>T	(Likely) benign	1 lab	109609a930
14:20844322 TEP1 C>T	14	20844322	20844322	C	T	TEP1	c.6190G>A	NM_007110.5	NP_009041.2:p.(Val2064Met)	NC_000014.8:g.20844322C>T	VUS	1 lab	1097c1853b
12:85680752 ALX1 A>C	12	85680752	85680752	A	C	ALX1	c.653A>C	NM_006982.3	NP_008913.2:p.(Tyr218Ser)	NC_000012.11:g.85680752A>C	VUS	1 lab	10987b27ee
2:109389335 RANBP2 G>T	2	109389335	109389335	G	T	RANBP2	c.8125G>T	NM_006267.5	NP_006258.3:p.(Glu2709Ter)	NC_000002.11:g.109389335G>T	VUS	1 lab	10997cc87c
19:39025835 RYR1 A>G	19	39025835	39025835	A	G	RYR1	c.11414A>G	NM_000540.3	NP_000531.2:p.(Asn3805Ser)	NC_000019.9:g.39025835A>G	VUS	1 lab	1099ad2e7d
8:3245069 CSMD1 G>C	8	3245069	3245069	G	C	CSMD1	c.2729C>G	NM_033225.6	NP_150094.5:p.(Pro910Arg)	NC_000008.10:g.3245069G>C	VUS	1 lab	109b187430
10:50165315 WDFY4 G>A	10	50165315	50165315	G	A	WDFY4	c.8119G>A	NM_001394531.1	NP_001381460.1:p.(Gly2707Arg)	NC_000010.10:g.50165315G>A	VUS	1 lab	109bb43664
17:65908976 BPTF C>T	17	65908976	65908976	C	T	BPTF	c.4976C>T	NM_182641.4	NP_872579.2:p.(Thr1659Met)	NC_000017.10:g.65908976C>T	VUS	1 lab	109cf46e2d
8:145008193 PLEC C>T	8	145008193	145008193	C	T	PLEC	c.1236G>A	NM_201384.3	NP_958786.1:p.(Leu412=)	NC_000008.10:g.145008193C>T	VUS	1 lab	109d6d2609
4:156874911 CTSO G>T	4	156874911	156874911	G	T	CTSO	c.89C>A	NM_001334.3	NP_001325.1:p.(Thr30Asn)	NC_000004.11:g.156874911G>T	(Likely) benign	1 lab	109ea284e2
6:111696921 REV3L T>A	6	111696921	111696921	T	A	REV3L	c.2637A>T	NM_001372078.1	NP_001359007.1:p.(Lys879Asn)	NC_000006.11:g.111696921T>A	(Likely) benign	1 lab	109f27fab8
22:24572121 CABIN1 C>T	22	24572121	24572121	C	T	CABIN1	c.6083C>T	NM_012295.4	NP_036427.1:p.(Pro2028Leu)	NC_000022.10:g.24572121C>T	VUS	1 lab	10a3c3fc3d
7:63986902 ZNF680 A>G	7	63986902	63986902	A	G	ZNF680	c.254-4024T>C	NM_178558.5	NP_848653.2:p.?	NC_000007.13:g.63986902A>G	VUS	1 lab	10a4f9e136
17:7750329 KDM6B C>T	17	7750329	7750329	C	T	KDM6B	c.904C>T	NM_001348716.2	NP_001335645.1:p.(Arg302Cys)	NC_000017.10:g.7750329C>T	(Likely) benign	1 lab	10a8907d59
14:91779726 CCDC88C G>C	14	91779726	91779726	G	C	CCDC88C	c.2434C>G	NM_001080414.4	NP_001073883.2:p.(Gln812Glu)	NC_000014.8:g.91779726G>C	(Likely) benign	1 lab	10aa0320f1
16:2158252 PKD1 C>T	16	2158252	2158252	C	T	PKD1	c.6915+1G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2158252C>T	(Likely) pathogenic	1 lab	10aaf533f0
7:27239522 HOXA13 G>C	7	27239522	27239522	G	C	HOXA13	c.175C>G	NM_000522.5	NP_000513.2:p.(Pro59Ala)	NC_000007.13:g.27239522G>C	(Likely) benign	1 lab	10abc51837
11:755978 TALDO1 T>C	11	755978	755978	T	C	TALDO1	c.197T>C	NM_006755.2	NP_006746.1:p.(Ile66Thr)	NC_000011.9:g.755978T>C	(Likely) benign	1 lab	10ac413509
17:73228948 NUP85 C>T	17	73228948	73228948	C	T	NUP85	c.1399C>T	NM_024844.5	NP_079120.1:p.(Arg467Cys)	NC_000017.10:g.73228948C>T	VUS	1 lab	10ac54c047
19:4493702 HDGFL2 G>A	19	4493702	4493702	G	A	HDGFL2	c.681G>A	NM_001001520.3	NP_001001520.1:p.(Lys227=)	NC_000019.9:g.4493702G>A	(Likely) benign	1 lab	10aca41bab
11:624851 CDHR5 C>T	11	624851	624851	C	T	CDHR5	c.52G>A	NM_021924.5	NP_068743.3:p.(Val18Ile)	NC_000011.9:g.624851C>T	(Likely) benign	1 lab	10ad49d369
1:160012105 KCNJ10 G>A	1	160012105	160012105	G	A	KCNJ10	c.218C>T	NM_002241.5	NP_002232.2:p.(Ala73Val)	NC_000001.10:g.160012105G>A	VUS	1 lab	10ad7571aa
19:50156894 SCAF1 C>T	19	50156894	50156894	C	T	SCAF1	c.3248C>T	NM_021228.3	NP_067051.2:p.(Thr1083Met)	NC_000019.9:g.50156894C>T	(Likely) benign	1 lab	10b22ba3af
22:30639731 LIF G>A	22	30639731	30639731	G	A	LIF	c.518C>T	NM_002309.5	NP_002300.1:p.(Ser173Leu)	NC_000022.10:g.30639731G>A	(Likely) benign	1 lab	10b2c2d08e
X:17750499 NHS C>T	X	17750499	17750499	C	T	NHS	c.4871C>T	NM_001291867.2	NP_001278796.1:p.(Thr1624Met)	NC_000023.10:g.17750499C>T	VUS	1 lab	10b2d78eec
13:100807260 PCCA G>C	13	100807260	100807260	G	C	PCCA	c.328G>C	NM_000282.4	NP_000273.2:p.(Val110Leu)	NC_000013.10:g.100807260G>C	VUS	1 lab	10b3e75bfd
11:800453 PIDD1 T>C	11	800453	800453	T	C	PIDD1	c.2042-2A>G	NM_145886.4	NP_665893.2:p.?	NC_000011.9:g.800453T>C	VUS	1 lab	10b4777044
17:41203060 BRCA1 G>T	17	41203060	41203060	G	T	BRCA1	c.5332+20C>A	NM_007294.4	NP_009225.1:p.?	NC_000017.10:g.41203060G>T	VUS	1 lab	10b5185457
10:124351786 DMBT1 A>C	10	124351786	124351786	A	C	DMBT1	c.2177-2A>C	NM_001377530.1	NP_001364459.1:p.?	NC_000010.10:g.124351786A>C	(Likely) benign	1 lab	10b6625749
7:150713771 ATG9B C>G	7	150713771	150713771	C	G	ATG9B	c.2423+5G>C	NM_001317056.2	NP_001303985.1:p.?	NC_000007.13:g.150713771C>G	(Likely) benign	1 lab	10b6d47e26
X:153694863 PLXNA3 G>A	X	153694863	153694863	G	A	PLXNA3	c.2936+8G>A	NM_017514.5	NP_059984.3:p.?	NC_000023.10:g.153694863G>A	(Likely) benign	1 lab	10b9eaeb81
17:2558981 PAFAH1B1 G>A	17	2558981	2558981	G	A	PAFAH1B1	c.33-9685G>A	NM_000430.4	NP_000421.1:p.?	NC_000017.10:g.2558981G>A	(Likely) benign	1 lab	10bb765d69
3:126749138 PLXNA1 C>T	3	126749138	126749138	C	T	PLXNA1	c.5114C>T	NM_032242.4	NP_115618.3:p.(Ala1705Val)	NC_000003.11:g.126749138C>T	VUS	1 lab	10bc16768f
5:139937015 SRA1 G>A	5	139937015	139937015	G	A	SRA1	c.23C>T	NM_001035235.4	NP_001030312.3:p.(Pro8Leu)	NC_000005.9:g.139937015G>A	VUS	1 lab	10bda6660a
14:77745101 POMT2 GGGAAGTAGTGGT>G	14	77745101	77745121	GGGAAGTAGTGGT	G	POMT2	c.1991_2002del	NM_013382.7	NP_037514.2:p.(His664_Phe667del)	NC_000014.8:g.77745110_77745121del	VUS	1 lab	10be0958c8
16:8862754 ABAT C>T	16	8862754	8862754	C	T	ABAT	c.740C>T	NM_020686.6	NP_065737.2:p.(Pro247Leu)	NC_000016.9:g.8862754C>T	VUS	1 lab	10bf5d1ca2
X:129804011 ENOX2 G>A	X	129804011	129804011	G	A	ENOX2	c.622C>T	NM_006375.4	NP_006366.2:p.(Arg208Cys)	NC_000023.10:g.129804011G>A	(Likely) benign	1 lab	10c002fe62
X:9900532 SHROOM2 G>A	X	9900532	9900532	G	A	SHROOM2	c.3209G>A	NM_001649.4	NP_001640.1:p.(Arg1070His)	NC_000023.10:g.9900532G>A	(Likely) benign	1 lab	10c0bc7195
20:60897415 LAMA5 C>T	20	60897415	60897415	C	T	LAMA5	c.6256G>A	NM_005560.6	NP_005551.3:p.(Gly2086Arg)	NC_000020.10:g.60897415C>T	VUS	1 lab	10c3740c09
8:97285617 PTDSS1 T>C	8	97285617	97285617	T	C	PTDSS1	c.270T>C	NM_014754.3	NP_055569.1:p.(Asn90=)	NC_000008.10:g.97285617T>C	(Likely) benign	1 lab	10c44361e4
2:44003915 DYNC2LI1 A>T	2	44003915	44003915	A	T	DYNC2LI1	c.9-6A>T	NM_016008.4	NP_057092.2:p.?	NC_000002.11:g.44003915A>T	(Likely) benign	1 lab	10c5c8aa06
5:908175 TRIP13 G>A	5	908175	908175	G	A	TRIP13	c.745G>A	NM_004237.4	NP_004228.1:p.(Val249Met)	NC_000005.9:g.908175G>A	VUS	1 lab	10c761c77a
21:47421855 COL6A1 C>T	21	47421855	47421855	C	T	COL6A1	c.1957-20C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47421855C>T	(Likely) benign	1 lab	10c792a0dd
19:19822638 ZNF14 GAA>G	19	19822638	19822642	GAA	G	ZNF14	c.1450_1451del	NM_021030.3	NP_066358.2:p.(Phe484HisfsTer10)	NC_000019.9:g.19822641_19822642del	VUS	1 lab	10c8862631
1:45793695 HPDL G>A	1	45793695	45793695	G	A	HPDL	c.875G>A	NM_032756.3	NP_116145.1:p.(Gly292Glu)	NC_000001.10:g.45793695G>A	VUS	1 lab	1162e05c68
12:124298029 DNAH10 C>T	12	124298029	124298029	C	T	DNAH10	c.3463C>T	NM_001372106.1	NP_001359035.1:p.(Arg1155Cys)	NC_000012.11:g.124298029C>T	VUS	1 lab	10ca1c266a
17:7129515 DVL2 C>T	17	7129515	7129515	C	T	DVL2	c.1880G>A	NM_004422.3	NP_004413.1:p.(Arg627Gln)	NC_000017.10:g.7129515C>T	(Likely) benign	1 lab	10ca310f57
20:33514730 ACSS2 C>G	20	33514730	33514730	C	G	ACSS2	c.1954C>G	NM_018677.4	NP_061147.1:p.(Pro652Ala)	NC_000020.10:g.33514730C>G	VUS	1 lab	10ca397018
X:132670268 GPC3 T>G	X	132670268	132670268	T	G	GPC3	c.1627A>C	NM_004484.4	NP_004475.1:p.(Thr543Pro)	NC_000023.10:g.132670268T>G	VUS	1 lab	10cb259002
16:1402248 GNPTG ACCCGTTCTTGCCTCAGG>A	16	1402248	1402267	ACCCGTTCTTGCCTCAGG	A	GNPTG	c.122_138del	NM_032520.5	NP_115909.1:p.(Pro41GlnfsTer36)	NC_000016.9:g.1402251_1402267del	(Likely) pathogenic	1 lab	10cd5434cd
1:74833645 TNNI3K A>C	1	74833645	74833645	A	C	TNNI3K	c.1318A>C	NM_015978.3	NP_057062.1:p.(Lys440Gln)	NC_000001.10:g.74833645A>C	VUS	1 lab	1a3e92eebc
21:46600318 ADARB1 A>T	21	46600318	46600318	A	T	ADARB1	c.1037A>T	NM_001112.4	NP_001103.1:p.(His346Leu)	NC_000021.8:g.46600318A>T	(Likely) benign	1 lab	10ce8078f5
1:45793712 HPDL C>T	1	45793712	45793712	C	T	HPDL	c.892C>T	NM_032756.3	NP_116145.1:p.(Arg298Ter)	NC_000001.10:g.45793712C>T	VUS	1 lab	10d14ead23
11:70644669 SHANK2 C>A	11	70644669	70644669	C	A	SHANK2	c.1664-8G>T	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70644669C>A	VUS	1 lab	10d44aeb6e
11:1271306 MUC5B C>T	11	1271306	1271306	C	T	MUC5B	c.13196C>T	NM_002458.3	NP_002449.2:p.(Ala4399Val)	NC_000011.9:g.1271306C>T	VUS	1 lab	10d4c77862
3:126732914 PLXNA1 G>A	3	126732914	126732914	G	A	PLXNA1	c.2365G>A	NM_032242.4	NP_115618.3:p.(Val789Met)	NC_000003.11:g.126732914G>A	VUS	1 lab	10d4eae8e6
18:53253384 TCF4 GAGC>G	18	53253384	53253460	GAGC	G	TCF4	c.73-804_73-802del	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.53253458_53253460del	(Likely) benign	1 lab	10d7ad3280
2:179616421 TTN C>A	2	179616421	179616421	C	A	TTN	c.11311+1430G>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616421C>A	(Likely) benign	1 lab	10d811647b
X:19387332 MAP3K15 G>A	X	19387332	19387332	G	A	MAP3K15	c.3406C>T	NM_001001671.4	NP_001001671.3:p.(Arg1136Ter)	NC_000023.10:g.19387332G>A	VUS	1 lab	10d96bd0b5
6:129674425 LAMA2 C>T	6	129674425	129674425	C	T	LAMA2	c.4640C>T	NM_000426.4	NP_000417.3:p.(Thr1547Met)	NC_000006.11:g.129674425C>T	(Likely) benign	1 lab	10d98fd3da
9:113547989 MUSK T>C	9	113547989	113547989	T	C	MUSK	c.1769T>C	NM_005592.4	NP_005583.1:p.(Phe590Ser)	NC_000009.11:g.113547989T>C	(Likely) pathogenic	1 lab	10d9f7c535
12:57110215 NACA G>A	12	57110215	57110215	G	A	NACA	c.5099C>T	NM_001365896.1	NP_001352825.1:p.(Thr1700Ile)	NC_000012.11:g.57110215G>A	VUS	1 lab	10dba48dd0
3:49848791 UBA7 A>T	3	49848791	49848791	A	T	UBA7	c.1037T>A	NM_003335.3	NP_003326.2:p.(Val346Glu)	NC_000003.11:g.49848791A>T	VUS	1 lab	10dc7230b9
12:52697001 KRT86 C>T	12	52697001	52697001	C	T	KRT86	c.487C>T	NM_001320198.2	NP_001307127.1:p.(Arg163Trp)	NC_000012.11:g.52697001C>T	(Likely) benign	1 lab	10dd1f66ae
16:56536365 BBS2 C>T	16	56536365	56536365	C	T	BBS2	c.944G>A	NM_031885.5	NP_114091.4:p.(Arg315Gln)	NC_000016.9:g.56536365C>T	(Likely) pathogenic	1 lab	10dd85e738
22:32173990 DEPDC5 T>C	22	32173990	32173990	T	C	DEPDC5	c.414-95T>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32173990T>C	(Likely) benign	1 lab	1a9a97bec2
22:24133991 SMARCB1 C>G	22	24133991	24133991	C	G	SMARCB1	c.142C>G	NM_003073.5	NP_003064.2:p.(Pro48Ala)	NC_000022.10:g.24133991C>G	VUS	1 lab	10dee600b3
19:54665991 TMC4 C>T	19	54665991	54665991	C	T	TMC4	c.1533G>A	NM_144686.4	NP_653287.2:p.(Leu511=)	NC_000019.9:g.54665991C>T	VUS	1 lab	10df547d3b
11:121174097 SC5D C>G	11	121174097	121174097	C	G	SC5D	c.13C>G	NM_006918.5	NP_008849.2:p.(Leu5Val)	NC_000011.9:g.121174097C>G	VUS	1 lab	10e1749a30
17:8398564 MYH10 A>G	17	8398564	8398564	A	G	MYH10	c.3952-5T>C	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8398564A>G	(Likely) benign	1 lab	10e39dffe1
X:120008917 CT47B1 GGGACCGACGCGGCCTCCT>G	X	120008917	120008945	GGGACCGACGCGGCCTCCT	G	CT47B1	c.590_607del	NM_001145718.3	NP_001139190.1:p.(Gln197_Val202del)	NC_000023.10:g.120008928_120008945del	(Likely) benign	1 lab	10e407d361
7:44193032 GCK G>A	7	44193032	44193032	G	A	GCK	c.76C>T	NM_000162.5	NP_000153.1:p.(Gln26Ter)	NC_000007.13:g.44193032G>A	(Likely) pathogenic	1 lab	10e4b18626
2:217297570 SMARCAL1 C>T	2	217297570	217297570	C	T	SMARCAL1	c.1464C>T	NM_014140.4	NP_054859.2:p.(Ser488=)	NC_000002.11:g.217297570C>T	(Likely) benign	1 lab	10e4e1c4c0
10:124268230 HTRA1 T>C	10	124268230	124268230	T	C	HTRA1	c.1064T>C	NM_002775.5	NP_002766.1:p.(Ile355Thr)	NC_000010.10:g.124268230T>C	(Likely) pathogenic	1 lab	10e61e91bc
1:103363740 COL11A1 G>A	1	103363740	103363740	G	A	COL11A1	c.4249-6C>T	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103363740G>A	(Likely) benign	1 lab	10e6fc8d65
3:172163215 GHSR G>T	3	172163215	172163215	G	T	GHSR	c.837C>A	NM_198407.2	NP_940799.1:p.(Phe279Leu)	NC_000003.11:g.172163215G>T	VUS	1 lab	10e7558dad
11:76895661 MYO7A C>A	11	76895661	76895661	C	A	MYO7A	c.3404C>A	NM_000260.4	NP_000251.3:p.(Ser1135Tyr)	NC_000011.9:g.76895661C>A	VUS	1 lab	10e86d5b79
9:139734897 RABL6 G>A	9	139734897	139734897	G	A	RABL6	c.2113G>A	NM_024718.5	NP_078994.3:p.(Asp705Asn)	NC_000009.11:g.139734897G>A	VUS	1 lab	10e8b3b5ea
10:61832903 ANK3 C>T	10	61832903	61832903	C	T	ANK3	c.7736G>A	NM_020987.5	NP_066267.2:p.(Arg2579Lys)	NC_000010.10:g.61832903C>T	(Likely) benign	1 lab	10e9740ef4
16:88798325 PIEZO1 A>AGGGGAGAGGGCGGGGCGTGGGGATGCACTGAGTCT	16	88798325	88798341	A	AGGGGAGAGGGCGGGGCGTGGGGATGCACTGAGTCT	PIEZO1	c.2992-8_2992-7insAGACTCAGTGCATCCCCACGCCCCGCCCTCTCCCC	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88798340_88798341insCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGG	(Likely) benign	1 lab	10eb40de42
4:88977301 PKD2 GC>G	4	88977301	88977303	GC	G	PKD2	c.1782del	NM_000297.4	NP_000288.1:p.(Asp596ThrfsTer14)	NC_000004.11:g.88977303del	(Likely) pathogenic	1 lab	10eb4a1b0e
19:35251241 ZNF599 A>T	19	35251241	35251241	A	T	ZNF599	c.465T>A	NM_001007248.3	NP_001007249.1:p.(Asp155Glu)	NC_000019.9:g.35251241A>T	(Likely) benign	1 lab	10eb5ce37e
3:47125458 SETD2 C>T	3	47125458	47125458	C	T	SETD2	c.5812G>A	NM_014159.7	NP_054878.5:p.(Val1938Ile)	NC_000003.11:g.47125458C>T	(Likely) benign	1 lab	10eb6af6b9
17:67183892 ABCA10 G>A	17	67183892	67183892	G	A	ABCA10	c.2260C>T	NM_001377321.1	NP_001364250.1:p.(Arg754Ter)	NC_000017.10:g.67183892G>A	VUS	1 lab	10ebcd43fe
16:70366867 DDX19B G>A	16	70366867	70366867	G	A	DDX19B	c.1187-4G>A	NM_007242.7	NP_009173.1:p.?	NC_000016.9:g.70366867G>A	(Likely) benign	1 lab	10ee598b8c
12:116418641 MED13L G>A	12	116418641	116418641	G	A	MED13L	c.5278C>T	NM_015335.5	NP_056150.1:p.(Arg1760Ter)	NC_000012.11:g.116418641G>A	(Likely) pathogenic	1 lab	10eee87301
4:184615144 TRAPPC11 G>A	4	184615144	184615144	G	A	TRAPPC11	c.2461G>A	NM_021942.6	NP_068761.4:p.(Ala821Thr)	NC_000004.11:g.184615144G>A	(Likely) benign	1 lab	10ef5d33e6
11:17452341 ABCC8 C>T	11	17452341	17452341	C	T	ABCC8	c.1817+20G>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17452341C>T	(Likely) benign	1 lab	10efab6d05
9:135946599 CEL C>A	9	135946599	135946599	C	A	CEL	c.1710C>A	NM_001807.6	NP_001798.3:p.(Pro570=)	NC_000009.11:g.135946599C>A	(Likely) benign	1 lab	10f0fd58b7
19:49337538 HSD17B14 C>T	19	49337538	49337538	C	T	HSD17B14	c.205G>A	NM_016246.3	NP_057330.2:p.(Val69Met)	NC_000019.9:g.49337538C>T	(Likely) benign	1 lab	10f15dad4a
19:49376683 PPP1R15A A>G	19	49376683	49376683	A	G	PPP1R15A	c.193A>G	NM_014330.5	NP_055145.3:p.(Arg65Gly)	NC_000019.9:g.49376683A>G	(Likely) benign	1 lab	10f1ffea00
9:128025817 GAPVD1 TTTTG>T	9	128025817	128025821	TTTTG	T	GAPVD1	c.-199+1580_-199+1583del	NM_001282680.3	NP_001269609.1:p.?	NC_000009.11:g.128025818_128025821del	(Likely) benign	1 lab	10f30461da
3:44776018 ZNF501 A>T	3	44776018	44776018	A	T	ZNF501	c.105A>T	NM_001258280.2	NP_001245209.1:p.(Ser35=)	NC_000003.11:g.44776018A>T	(Likely) benign	1 lab	10f501b090
11:7981261 NLRP10 C>T	11	7981261	7981261	C	T	NLRP10	c.1898G>A	NM_176821.4	NP_789791.1:p.(Gly633Glu)	NC_000011.9:g.7981261C>T	(Likely) benign	1 lab	fd036ff2b2
2:219920432 IHH T>C	2	219920432	219920432	T	C	IHH	c.733A>G	NM_002181.4	NP_002172.2:p.(Ile245Val)	NC_000002.11:g.219920432T>C	(Likely) benign	1 lab	10f615a86e
16:30678691 FBRS G>A	16	30678691	30678691	G	A	FBRS	c.1926G>A	NM_001105079.3	NP_001098549.2:p.(Pro642=)	NC_000016.9:g.30678691G>A	VUS	1 lab	10f75b2320
17:62488866 POLG2 G>A	17	62488866	62488866	G	A	POLG2	c.713C>T	NM_007215.4	NP_009146.2:p.(Ser238Leu)	NC_000017.10:g.62488866G>A	VUS	1 lab	10f7ec3006
7:95442629 DYNC1I1 C>T	7	95442629	95442629	C	T	DYNC1I1	c.294C>T	NM_001135556.2	NP_001129028.1:p.(Gly98=)	NC_000007.13:g.95442629C>T	(Likely) benign	1 lab	10f872a98f
1:240255728 FMN2 G>T	1	240255728	240255728	G	T	FMN2	c.319G>T	NM_020066.5	NP_064450.3:p.(Glu107Ter)	NC_000001.10:g.240255728G>T	VUS	1 lab	10f954c4c7
2:20178639 WDR35 G>A	2	20178639	20178639	G	A	WDR35	c.309C>T	NM_020779.4	NP_065830.2:p.(Gly103=)	NC_000002.11:g.20178639G>A	(Likely) benign	1 lab	10fa311722
16:68712510 CDH3 GGTT>G	16	68712510	68712520	GGTT	G	CDH3	c.505_507del	NM_001793.6	NP_001784.2:p.(Leu169del)	NC_000016.9:g.68712518_68712520del	VUS	1 lab	10fba47240
5:121413489 LOX G>T	5	121413489	121413489	G	T	LOX	c.192C>A	NM_002317.7	NP_002308.2:p.(Tyr64Ter)	NC_000005.9:g.121413489G>T	(Likely) pathogenic	1 lab	10fd8c98ed
10:105795117 COL17A1 C>T	10	105795117	105795117	C	T	COL17A1	c.3523G>A	NM_000494.4	NP_000485.3:p.(Gly1175Ser)	NC_000010.10:g.105795117C>T	VUS	1 lab	10fe766c71
11:57373687 SERPING1 G>T	11	57373687	57373687	G	T	SERPING1	c.889+1G>T	NM_000062.3	NP_000053.2:p.?	NC_000011.9:g.57373687G>T	(Likely) pathogenic	1 lab	10fecc67bb
13:32367033 RXFP2 C>G	13	32367033	32367033	C	G	RXFP2	c.1594C>G	NM_130806.5	NP_570718.1:p.(Arg532Gly)	NC_000013.10:g.32367033C>G	(Likely) benign	1 lab	1103d294ef
1:152275535 FLG C>A	1	152275535	152275535	C	A	FLG	c.11827G>T	NM_002016.2	NP_002007.1:p.(Gly3943Ter)	NC_000001.10:g.152275535C>A	VUS	1 lab	110420fea0
14:77894729 VIPAS39 G>T	14	77894729	77894729	G	T	VIPAS39	c.1445C>A	NM_001193315.2	NP_001180244.1:p.(Ala482Asp)	NC_000014.8:g.77894729G>T	(Likely) benign	1 lab	1106358e79
11:85409128 SYTL2 T>A	11	85409128	85409128	T	A	SYTL2	c.6269-7A>T	NM_206927.4	NP_996810.2:p.?	NC_000011.9:g.85409128T>A	(Likely) benign	1 lab	110682bf7c
15:89833517 FANCI A>C	15	89833517	89833517	A	C	FANCI	c.1890+5A>C	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89833517A>C	(Likely) benign	1 lab	1107dee744
X:151817706 GABRQ C>A	X	151817706	151817706	C	A	GABRQ	c.528-8C>A	NM_018558.4	NP_061028.3:p.?	NC_000023.10:g.151817706C>A	(Likely) benign	1 lab	110a140aa3
16:30976535 SETD1A G>A	16	30976535	30976535	G	A	SETD1A	c.1472G>A	NM_014712.3	NP_055527.1:p.(Arg491His)	NC_000016.9:g.30976535G>A	VUS	1 lab	110a74c45a
2:97007459 NCAPH G>T	2	97007459	97007459	G	T	NCAPH	c.99G>T	NM_015341.5	NP_056156.2:p.(Val33=)	NC_000002.11:g.97007459G>T	VUS	1 lab	110b59992a
16:84125368 MBTPS1 G>A	16	84125368	84125368	G	A	MBTPS1	c.932C>T	NM_003791.4	NP_003782.1:p.(Pro311Leu)	NC_000016.9:g.84125368G>A	VUS	1 lab	110bd2c485
19:45868335 ERCC2 G>A	19	45868335	45868335	G	A	ERCC2	c.442C>T	NM_000400.4	NP_000391.1:p.(His148Tyr)	NC_000019.9:g.45868335G>A	VUS	1 lab	110e1cb545
7:139661826 TBXAS1 A>G	7	139661826	139661826	A	G	TBXAS1	c.928A>G	NM_001061.7	NP_001052.3:p.(Lys310Glu)	NC_000007.13:g.139661826A>G	(Likely) benign	1 lab	111065231c
6:33131565 COL11A2 G>C	6	33131565	33131565	G	C	COL11A2	c.5101C>G	NM_080680.3	NP_542411.2:p.(Arg1701Gly)	NC_000006.11:g.33131565G>C	VUS	1 lab	1110d37439
6:24653297 TDP2 A>C	6	24653297	24653297	A	C	TDP2	c.721T>G	NM_016614.3	NP_057698.2:p.(Leu241Val)	NC_000006.11:g.24653297A>C	VUS	1 lab	1111943e7f
4:1934197 NSD2 G>T	4	1934197	1934197	G	T	NSD2	c.1555+1700G>T	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1934197G>T	(Likely) benign	1 lab	1113e7da41
17:11840674 DNAH9 C>G	17	11840674	11840674	C	G	DNAH9	c.12495C>G	NM_001372.4	NP_001363.2:p.(Ile4165Met)	NC_000017.10:g.11840674C>G	VUS	1 lab	111663c179
22:50964554 TYMP G>A	22	50964554	50964554	G	A	TYMP	c.1176C>T	NM_001953.5	NP_001944.1:p.(Val392=)	NC_000022.10:g.50964554G>A	(Likely) benign	1 lab	1116e7573c
9:135945972 CEL A>ACTC	9	135945972	135945974	A	ACTC	CEL	c.1412_1413insTCC	NM_001807.6	NP_001798.3:p.(Thr471_Gly472insPro)	NC_000009.11:g.135945973_135945974insTCC	(Likely) benign	1 lab	1118040a11
4:159627391 ETFDH A>C	4	159627391	159627391	A	C	ETFDH	c.1336A>C	NM_004453.4	NP_004444.2:p.(Lys446Gln)	NC_000004.11:g.159627391A>C	VUS	1 lab	1118210348
18:46812905 DYM T>G	18	46812905	46812905	T	G	DYM	c.845A>C	NM_001353214.3	NP_001340143.1:p.(Asn282Thr)	NC_000018.9:g.46812905T>G	VUS	1 lab	1119542b0b
3:53898984 IL17RB G>T	3	53898984	53898984	G	T	IL17RB	c.1158G>T	NM_018725.4	NP_061195.2:p.(Lys386Asn)	NC_000003.11:g.53898984G>T	VUS	1 lab	111c914d83
11:800252 PIDD1 G>A	11	800252	800252	G	A	PIDD1	c.2161-8C>T	NM_145886.4	NP_665893.2:p.?	NC_000011.9:g.800252G>A	(Likely) benign	1 lab	111ed589a5
19:10264977 DNMT1 C>T	19	10264977	10264977	C	T	DNMT1	c.2011G>A	NM_001130823.3	NP_001124295.1:p.(Val671Ile)	NC_000019.9:g.10264977C>T	VUS	1 lab	11223b0781
15:99491807 IGF1R T>C	15	99491807	99491807	T	C	IGF1R	c.3592T>C	NM_000875.5	NP_000866.1:p.(Phe1198Leu)	NC_000015.9:g.99491807T>C	VUS	1 lab	1125c38375
9:328062 DOCK8 T>C	9	328062	328062	T	C	DOCK8	c.935T>C	NM_203447.4	NP_982272.2:p.(Phe312Ser)	NC_000009.11:g.328062T>C	VUS	1 lab	1125ec9e7d
X:24331092 SUPT20HL2 T>C	X	24331092	24331092	T	C	SUPT20HL2	c.341A>G	NM_001136233.3	NP_001129705.3:p.(Asp114Gly)	NC_000023.10:g.24331092T>C	(Likely) benign	1 lab	112669677a
16:30097581 TBX6 C>T	16	30097581	30097581	C	T	TBX6	c.1276G>A	NM_004608.4	NP_004599.2:p.(Gly426Ser)	NC_000016.9:g.30097581C>T	(Likely) benign	1 lab	1126a31422
17:37360342 RPL19 G>A	17	37360342	37360342	G	A	RPL19	c.369G>A	NM_000981.4	NP_000972.1:p.(Leu123=)	NC_000017.10:g.37360342G>A	(Likely) benign	1 lab	11276e6e80
11:121177973 SC5D A>G	11	121177973	121177973	A	G	SC5D	c.652A>G	NM_006918.5	NP_008849.2:p.(Ile218Val)	NC_000011.9:g.121177973A>G	(Likely) benign	1 lab	11290105a2
8:100883803 VPS13B G>A	8	100883803	100883803	G	A	VPS13B	c.11623G>A	NM_152564.5	NP_689777.3:p.(Val3875Ile)	NC_000008.10:g.100883803G>A	VUS	1 lab	11290b0cbf
17:1248772 YWHAE G>A	17	1248772	1248772	G	A	YWHAE	c.737C>T	NM_006761.5	NP_006752.1:p.(Ala246Val)	NC_000017.10:g.1248772G>A	VUS	1 lab	1129500b90
X:76937836 ATRX T>G	X	76937836	76937836	T	G	ATRX	c.2912A>C	NM_000489.6	NP_000480.3:p.(Lys971Thr)	NC_000023.10:g.76937836T>G	(Likely) benign	1 lab	112988d4eb
11:65325357 LTBP3 G>A	11	65325357	65325357	G	A	LTBP3	c.74C>T	NM_001130144.3	NP_001123616.1:p.(Ala25Val)	NC_000011.9:g.65325357G>A	(Likely) benign	1 lab	112d60244b
14:58924538 KIAA0586 A>T	14	58924538	58924538	A	T	KIAA0586	c.1424A>T	NM_001329943.3	NP_001316872.1:p.(Gln475Leu)	NC_000014.8:g.58924538A>T	VUS	1 lab	112eee1811
11:73744862 C2CD3 G>A	11	73744862	73744862	G	A	C2CD3	c.6343C>T	NM_001286577.2	NP_001273506.1:p.(Pro2115Ser)	NC_000011.9:g.73744862G>A	(Likely) benign	1 lab	11328b1ecc
X:63412748 AMER1 C>A	X	63412748	63412748	C	A	AMER1	c.419G>T	NM_152424.4	NP_689637.3:p.(Gly140Val)	NC_000023.10:g.63412748C>A	(Likely) benign	1 lab	113392fc49
13:23915919 SACS CTTT>C	13	23915919	23915945	CTTT	C	SACS	c.2186-93_2186-91del	NM_014363.6	NP_055178.3:p.?	NC_000013.10:g.23915943_23915945del	(Likely) benign	1 lab	1aa2f24f70
16:89349906 ANKRD11 G>A	16	89349906	89349906	G	A	ANKRD11	c.3044C>T	NM_013275.6	NP_037407.4:p.(Pro1015Leu)	NC_000016.9:g.89349906G>A	VUS	1 lab	113791098e
14:20852255 TEP1 G>T	14	20852255	20852255	G	T	TEP1	c.3476C>A	NM_007110.5	NP_009041.2:p.(Pro1159His)	NC_000014.8:g.20852255G>T	(Likely) benign	1 lab	113995c44f
4:85715864 WDFY3 C>T	4	85715864	85715864	C	T	WDFY3	c.3295G>A	NM_014991.6	NP_055806.2:p.(Gly1099Ser)	NC_000004.11:g.85715864C>T	(Likely) benign	1 lab	113b2054d3
7:92138638 PEX1 C>A	7	92138638	92138638	C	A	PEX1	c.1670+5G>T	NM_000466.3	NP_000457.1:p.?	NC_000007.13:g.92138638C>A	(Likely) pathogenic	1 lab	113b8d960f
3:114069733 ZBTB20 C>T	3	114069733	114069733	C	T	ZBTB20	c.1192G>A	NM_001348800.3	NP_001335729.1:p.(Ala398Thr)	NC_000003.11:g.114069733C>T	(Likely) benign	1 lab	113bd1ac4a
14:99641556 BCL11B C>G	14	99641556	99641556	C	G	BCL11B	c.1617G>C	NM_138576.4	NP_612808.1:p.(Glu539Asp)	NC_000014.8:g.99641556C>G	VUS	1 lab	113c336b29
12:48258958 VDR C>T	12	48258958	48258958	C	T	VDR	c.149G>A	NM_000376.3	NP_000367.1:p.(Arg50Gln)	NC_000012.11:g.48258958C>T	VUS	1 lab	113d75bcec
17:9792928 GLP2R G>A	17	9792928	9792928	G	A	GLP2R	c.1568G>A	NM_004246.3	NP_004237.1:p.(Arg523His)	NC_000017.10:g.9792928G>A	(Likely) benign	1 lab	113eef6b16
1:176640106 PAPPA2 G>A	1	176640106	176640106	G	A	PAPPA2	c.1992G>A	NM_020318.3	NP_064714.2:p.(Arg664=)	NC_000001.10:g.176640106G>A	VUS	1 lab	1145a2a569
14:102516183 DYNC1H1 G>A	14	102516183	102516183	G	A	DYNC1H1	c.13648G>A	NM_001376.5	NP_001367.2:p.(Gly4550Ser)	NC_000014.8:g.102516183G>A	VUS	1 lab	11480f568d
3:47098430 SETD2 C>T	3	47098430	47098430	C	T	SETD2	c.6844G>A	NM_014159.7	NP_054878.5:p.(Val2282Ile)	NC_000003.11:g.47098430C>T	(Likely) benign	1 lab	11496869da
3:81698932 GBE1 AT>A	3	81698932	81698935	AT	A	GBE1	c.555+14del	NM_000158.4	NP_000149.4:p.?	NC_000003.11:g.81698935del	(Likely) benign	1 lab	114a66313c
1:152277550 FLG G>T	1	152277550	152277550	G	T	FLG	c.9812C>A	NM_002016.2	NP_002007.1:p.(Ser3271Tyr)	NC_000001.10:g.152277550G>T	(Likely) benign	1 lab	114b833cd8
3:47890510 DHX30 C>T	3	47890510	47890510	C	T	DHX30	c.2870C>T	NM_138615.3	NP_619520.1:p.(Ser957Phe)	NC_000003.11:g.47890510C>T	(Likely) benign	1 lab	114c716f49
10:124249032 HTRA1 A>C	10	124249032	124249032	A	C	HTRA1	c.667A>C	NM_002775.5	NP_002766.1:p.(Thr223Pro)	NC_000010.10:g.124249032A>C	VUS	1 lab	114cb0b22b
9:123232504 CDK5RAP2 C>A	9	123232504	123232504	C	A	CDK5RAP2	c.1859-6G>T	NM_018249.6	NP_060719.4:p.?	NC_000009.11:g.123232504C>A	(Likely) benign	1 lab	114cb3b06f
15:40509780 BUB1B A>T	15	40509780	40509780	A	T	BUB1B	c.2762A>T	NM_001211.6	NP_001202.5:p.(Gln921Leu)	NC_000015.9:g.40509780A>T	VUS	1 lab	114d02c38d
6:91261860 MAP3K7 T>C	6	91261860	91261860	T	C	MAP3K7	c.775A>G	NM_145331.3	NP_663304.1:p.(Ile259Val)	NC_000006.11:g.91261860T>C	VUS	1 lab	114f635781
2:215674187 BARD1 T>C	2	215674187	215674187	T	C	BARD1	c.107A>G	NM_000465.4	NP_000456.2:p.(His36Arg)	NC_000002.11:g.215674187T>C	VUS	1 lab	114fe19015
17:40842762 CNTNAP1 C>A	17	40842762	40842762	C	A	CNTNAP1	c.1861C>A	NM_003632.3	NP_003623.1:p.(Arg621=)	NC_000017.10:g.40842762C>A	(Likely) benign	1 lab	1aa359f7b4
1:115216359 AMPD1 C>T	1	115216359	115216359	C	T	AMPD1	c.1986G>A	NM_000036.3	NP_000027.3:p.(Met662Ile)	NC_000001.10:g.115216359C>T	(Likely) benign	1 lab	1150cf7fab
2:74274540 TET3 C>T	2	74274540	74274540	C	T	TET3	c.1496C>T	NM_001287491.2	NP_001274420.1:p.(Pro499Leu)	NC_000002.11:g.74274540C>T	VUS	1 lab	1153b0ff03
11:57563118 CTNND1 A>C	11	57563118	57563118	A	C	CTNND1	c.337A>C	NM_001085458.2	NP_001078927.1:p.(Thr113Pro)	NC_000011.9:g.57563118A>C	(Likely) benign	1 lab	115502095d
1:27059221 ARID1A T>C	1	27059221	27059221	T	C	ARID1A	c.1858T>C	NM_006015.6	NP_006006.3:p.(Ser620Pro)	NC_000001.10:g.27059221T>C	(Likely) benign	1 lab	1155bc1f5c
17:40836128 CNTNAP1 A>C	17	40836128	40836128	A	C	CNTNAP1	c.244A>C	NM_003632.3	NP_003623.1:p.(Ile82Leu)	NC_000017.10:g.40836128A>C	VUS	1 lab	11566f8901
3:196547366 PAK2 A>G	3	196547366	196547366	A	G	PAK2	c.1278A>G	NM_002577.4	NP_002568.2:p.(Ile426Met)	NC_000003.11:g.196547366A>G	VUS	1 lab	115755a630
7:151853097 KMT2C G>A	7	151853097	151853097	G	A	KMT2C	c.11858C>T	NM_170606.3	NP_733751.2:p.(Pro3953Leu)	NC_000007.13:g.151853097G>A	(Likely) benign	1 lab	1157570572
7:151935352 KMT2C C>A	7	151935352	151935352	C	A	KMT2C	c.2652+440G>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151935352C>A	(Likely) benign	1 lab	11589b3a89
11:71944753 INPPL1 A>G	11	71944753	71944753	A	G	INPPL1	c.2177A>G	NM_001567.4	NP_001558.3:p.(Glu726Gly)	NC_000011.9:g.71944753A>G	VUS	1 lab	1158e53956
17:33904402 PEX12 T>C	17	33904402	33904402	T	C	PEX12	c.335A>G	NM_000286.3	NP_000277.1:p.(Gln112Arg)	NC_000017.10:g.33904402T>C	VUS	1 lab	115aea95c7
17:70117888 SOX9 C>A	17	70117888	70117888	C	A	SOX9	c.356C>A	NM_000346.4	NP_000337.1:p.(Ala119Glu)	NC_000017.10:g.70117888C>A	(Likely) pathogenic	1 lab	115dd48bd9
3:43753219 ABHD5 A>C	3	43753219	43753219	A	C	ABHD5	c.525A>C	NM_016006.6	NP_057090.2:p.(Leu175Phe)	NC_000003.11:g.43753219A>C	VUS	1 lab	115eb15ab3
16:1841221 IGFALS G>A	16	1841221	1841221	G	A	IGFALS	c.1198C>T	NM_004970.3	NP_004961.1:p.(Arg400Cys)	NC_000016.9:g.1841221G>A	VUS	1 lab	115fd535d5
7:44283117 CAMK2B G>C	7	44283117	44283117	G	C	CAMK2B	c.424C>G	NM_001220.5	NP_001211.3:p.(Leu142Val)	NC_000007.13:g.44283117G>C	(Likely) pathogenic	1 lab	11600f6149
15:34042208 RYR3 A>C	15	34042208	34042208	A	C	RYR3	c.8228A>C	NM_001036.6	NP_001027.3:p.(Tyr2743Ser)	NC_000015.9:g.34042208A>C	VUS	1 lab	1160119220
1:976963 AGRN A>G	1	976963	976963	A	G	AGRN	c.1058A>G	NM_198576.4	NP_940978.2:p.(Gln353Arg)	NC_000001.10:g.976963A>G	(Likely) benign	1 lab	1162ae2982
9:80923311 PSAT1 A>T	9	80923311	80923311	A	T	PSAT1	c.571-19A>T	NM_058179.4	NP_478059.1:p.?	NC_000009.11:g.80923311A>T	(Likely) benign	1 lab	1aa468f133
8:145004599 PLEC G>A	8	145004599	145004599	G	A	PLEC	c.2410C>T	NM_201384.3	NP_958786.1:p.(Arg804Trp)	NC_000008.10:g.145004599G>A	VUS	1 lab	116447e428
X:48125805 SSX1 G>C	X	48125805	48125805	G	C	SSX1	c.550G>C	NM_005635.4	NP_005626.1:p.(Glu184Gln)	NC_000023.10:g.48125805G>C	VUS	1 lab	11644e4089
2:228154742 COL4A3 G>A	2	228154742	228154742	G	A	COL4A3	c.3008G>A	NM_000091.5	NP_000082.2:p.(Gly1003Glu)	NC_000002.11:g.228154742G>A	(Likely) pathogenic	1 lab	1165f7f50f
12:16713464 LMO3 C>A	12	16713464	16713464	C	A	LMO3	c.215G>T	NM_018640.5	NP_061110.2:p.(Gly72Val)	NC_000012.11:g.16713464C>A	VUS	1 lab	1166f4ea5e
8:22439006 PDLIM2 C>T	8	22439006	22439006	C	T	PDLIM2	c.208C>T	NM_001368120.1	NP_001355049.1:p.(Arg70Cys)	NC_000008.10:g.22439006C>T	VUS	1 lab	116709361d
16:72055115 DHODH C>G	16	72055115	72055115	C	G	DHODH	c.610C>G	NM_001361.5	NP_001352.2:p.(Leu204Val)	NC_000016.9:g.72055115C>G	VUS	1 lab	1167787a45
19:38946353 RYR1 A>C	19	38946353	38946353	A	C	RYR1	c.1753A>C	NM_000540.3	NP_000531.2:p.(Ile585Leu)	NC_000019.9:g.38946353A>C	VUS	1 lab	1168043606
19:22156566 ZNF208 G>T	19	22156566	22156566	G	T	ZNF208	c.1270C>A	NM_007153.3	NP_009084.2:p.(Pro424Thr)	NC_000019.9:g.22156566G>T	(Likely) benign	1 lab	116aea0b26
2:108473255 RGPD4 T>G	2	108473255	108473255	T	G	RGPD4	c.1106T>G	NM_182588.3	NP_872394.2:p.(Phe369Cys)	NC_000002.11:g.108473255T>G	VUS	1 lab	116c017c5e
1:154960995 FLAD1 C>T	1	154960995	154960995	C	T	FLAD1	c.787C>T	NM_025207.5	NP_079483.3:p.(Arg263Trp)	NC_000001.10:g.154960995C>T	VUS	1 lab	11713a56fb
4:1803734 FGFR3 C>G	4	1803734	1803734	C	G	FGFR3	c.912C>G	NM_000142.5	NP_000133.1:p.(Pro304=)	NC_000004.11:g.1803734C>G	(Likely) benign	1 lab	11716c289d
1:10032161 NMNAT1 TCTC>T	1	10032161	10032166	TCTC	T	NMNAT1	c.33_35del	NM_022787.4	NP_073624.2:p.(Leu12del)	NC_000001.10:g.10032164_10032166del	VUS	1 lab	117196253c
7:100246283 ACTL6B T>C	7	100246283	100246283	T	C	ACTL6B	c.565A>G	NM_016188.5	NP_057272.1:p.(Ile189Val)	NC_000007.13:g.100246283T>C	VUS	1 lab	11735aa1f2
9:139747809 MAMDC4 G>A	9	139747809	139747809	G	A	MAMDC4	c.227G>A	NM_206920.3	NP_996803.2:p.(Arg76Gln)	NC_000009.11:g.139747809G>A	(Likely) benign	1 lab	1173e21119
16:1809968 MAPK8IP3 A>G	16	1809968	1809968	A	G	MAPK8IP3	c.1256A>G	NM_001318852.2	NP_001305781.1:p.(Lys419Arg)	NC_000016.9:g.1809968A>G	VUS	1 lab	1177736a93
1:3334483 PRDM16 A>C	1	3334483	3334483	A	C	PRDM16	c.2783A>C	NM_022114.4	NP_071397.3:p.(His928Pro)	NC_000001.10:g.3334483A>C	(Likely) benign	1 lab	11793d8922
4:3521789 LRPAP1 C>T	4	3521789	3521789	C	T	LRPAP1	c.471+10G>A	NM_002337.4	NP_002328.1:p.?	NC_000004.11:g.3521789C>T	(Likely) benign	1 lab	1179c604ae
7:150775948 FASTK A>C	7	150775948	150775948	A	C	FASTK	c.666T>G	NM_006712.5	NP_006703.1:p.(His222Gln)	NC_000007.13:g.150775948A>C	VUS	1 lab	117a30aa94
11:72295629 PDE2A G>A	11	72295629	72295629	G	A	PDE2A	c.1503C>T	NM_002599.5	NP_002590.1:p.(Asn501=)	NC_000011.9:g.72295629G>A	VUS	1 lab	117a65cd69
8:145692936 KIFC2 A>G	8	145692936	145692936	A	G	KIFC2	c.538A>G	NM_001369769.2	NP_001356698.1:p.(Thr180Ala)	NC_000008.10:g.145692936A>G	(Likely) benign	1 lab	117c1fae19
9:139751625 MAMDC4 C>A	9	139751625	139751625	C	A	MAMDC4	c.1981C>A	NM_206920.3	NP_996803.2:p.(Arg661Ser)	NC_000009.11:g.139751625C>A	(Likely) benign	1 lab	117c45fbd9
20:40050407 CHD6 G>A	20	40050407	40050407	G	A	CHD6	c.4868C>T	NM_032221.5	NP_115597.3:p.(Thr1623Ile)	NC_000020.10:g.40050407G>A	VUS	1 lab	117c6500ea
17:12666410 MYOCD G>C	17	12666410	12666410	G	C	MYOCD	c.2410G>C	NM_001146312.3	NP_001139784.1:p.(Glu804Gln)	NC_000017.10:g.12666410G>C	(Likely) benign	1 lab	117c9929b3
11:103156986 DYNC2H1 T>G	11	103156986	103156986	T	G	DYNC2H1	c.10893T>G	NM_001377.3	NP_001368.2:p.(Ile3631Met)	NC_000011.9:g.103156986T>G	VUS	1 lab	117d86e978
9:713262 KANK1 GCTGCTGGCAGAACAGCAGACA>G	9	713262	713291	GCTGCTGGCAGAACAGCAGACA	G	KANK1	c.2505_2525del	NM_015158.5	NP_055973.2:p.(Gln837_Glu843del)	NC_000009.11:g.713271_713291del	VUS	1 lab	117f352162
22:42606118 TCF20 T>C	22	42606118	42606118	T	C	TCF20	c.5194A>G	NM_001378418.1	NP_001365347.1:p.(Thr1732Ala)	NC_000022.10:g.42606118T>C	VUS	1 lab	1180d7a89b
9:80046238 GNA14 G>A	9	80046238	80046238	G	A	GNA14	c.592C>T	NM_004297.4	NP_004288.1:p.(Arg198Trp)	NC_000009.11:g.80046238G>A	VUS	1 lab	11827e9239
2:108489252 RGPD4 G>T	2	108489252	108489252	G	T	RGPD4	c.4792G>T	NM_182588.3	NP_872394.2:p.(Glu1598Ter)	NC_000002.11:g.108489252G>T	(Likely) benign	1 lab	11831b28f6
2:182543231 NEUROD1 C>T	2	182543231	182543231	C	T	NEUROD1	c.357G>A	NM_002500.5	NP_002491.3:p.(Ala119=)	NC_000002.11:g.182543231C>T	(Likely) benign	1 lab	118331d195
17:29653127 NF1 A>T	17	29653127	29653127	A	T	NF1	c.5125A>T	NM_001042492.3	NP_001035957.1:p.(Ile1709Leu)	NC_000017.10:g.29653127A>T	VUS	1 lab	1184b83a02
16:89347581 ANKRD11 G>A	16	89347581	89347581	G	A	ANKRD11	c.5369C>T	NM_013275.6	NP_037407.4:p.(Ser1790Leu)	NC_000016.9:g.89347581G>A	VUS	1 lab	1184bb8a2a
14:103592871 TNFAIP2 C>T	14	103592871	103592871	C	T	TNFAIP2	c.77C>T	NM_006291.4	NP_006282.2:p.(Ala26Val)	NC_000014.8:g.103592871C>T	(Likely) benign	1 lab	1186d2ee42
18:29104831 DSG2 G>A	18	29104831	29104831	G	A	DSG2	c.994G>A	NM_001943.5	NP_001934.2:p.(Gly332Arg)	NC_000018.9:g.29104831G>A	VUS	1 lab	11874b34ea
17:33903123 PEX12 A>G	17	33903123	33903123	A	G	PEX12	c.758T>C	NM_000286.3	NP_000277.1:p.(Val253Ala)	NC_000017.10:g.33903123A>G	VUS	1 lab	1187825fef
3:148859174 HPS3 A>G	3	148859174	148859174	A	G	HPS3	c.970+7A>G	NM_032383.5	NP_115759.2:p.?	NC_000003.11:g.148859174A>G	(Likely) benign	1 lab	1aa4aa5fc9
16:72992581 ZFHX3 G>GTCTTCCTCCTCCTCT	16	72992581	72992625	G	GTCTTCCTCCTCCTCT	ZFHX3	c.1449_1463dup	NM_006885.4	NP_008816.3:p.(Glu483_Glu487dup)	NC_000016.9:g.72992611_72992625dup	(Likely) benign	1 lab	1187b12f8c
X:100749088 ARMCX4 G>A	X	100749088	100749088	G	A	ARMCX4	c.5512G>A	NM_001256155.3	NP_001243084.2:p.(Gly1838Arg)	NC_000023.10:g.100749088G>A	VUS	1 lab	118d698cda
6:158576339 SERAC1 C>T	6	158576339	158576339	C	T	SERAC1	c.128+8G>A	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158576339C>T	(Likely) benign	1 lab	1aa504590f
14:105414308 AHNAK2 C>T	14	105414308	105414308	C	T	AHNAK2	c.7480G>A	NM_138420.4	NP_612429.2:p.(Gly2494Arg)	NC_000014.8:g.105414308C>T	(Likely) benign	1 lab	118eb8917a
19:15289986 NOTCH3 G>A	19	15289986	15289986	G	A	NOTCH3	c.3568C>T	NM_000435.3	NP_000426.2:p.(Arg1190Cys)	NC_000019.9:g.15289986G>A	VUS	1 lab	118f998544
20:31624252 BPIFB6 C>A	20	31624252	31624252	C	A	BPIFB6	c.579C>A	NM_174897.2	NP_777557.1:p.(Asp193Glu)	NC_000020.10:g.31624252C>A	(Likely) benign	1 lab	118fa48d10
12:112926242 PTPN11 C>T	12	112926242	112926242	C	T	PTPN11	c.1380-5C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112926242C>T	(Likely) benign	1 lab	11907d67b2
17:70117618 SOX9 A>T	17	70117618	70117618	A	T	SOX9	c.86A>T	NM_000346.4	NP_000337.1:p.(Asp29Val)	NC_000017.10:g.70117618A>T	VUS	1 lab	119302bb3f
18:48603062 SMAD4 C>T	18	48603062	48603062	C	T	SMAD4	c.1363C>T	NM_005359.6	NP_005350.1:p.(Gln455Ter)	NC_000018.9:g.48603062C>T	(Likely) pathogenic	1 lab	1193a59658
14:24624913 RNF31 T>G	14	24624913	24624913	T	G	RNF31	c.2493+12T>G	NM_017999.5	NP_060469.4:p.?	NC_000014.8:g.24624913T>G	(Likely) benign	1 lab	1aa6defe39
19:50824029 KCNC3 T>C	19	50824029	50824029	T	C	KCNC3	c.1991A>G	NM_004977.3	NP_004968.2:p.(Asn664Ser)	NC_000019.9:g.50824029T>C	(Likely) benign	1 lab	1197469319
2:179417631 TTN T>A	2	179417631	179417631	T	A	TTN	c.89996A>T	NM_001267550.2	NP_001254479.2:p.(Glu29999Val)	NC_000002.11:g.179417631T>A	VUS	1 lab	1197bf3cac
20:45354969 SLC2A10 T>G	20	45354969	45354969	T	G	SLC2A10	c.1288+6T>G	NM_030777.4	NP_110404.1:p.?	NC_000020.10:g.45354969T>G	(Likely) benign	1 lab	1aa8dd6ee4
1:100358162 AGL AG>CC	1	100358162	100358163	AG	CC	AGL	c.3258_3259delinsCC	NM_000642.3	NP_000633.2:p.(Gly1087Arg)	NC_000001.10:g.100358162_100358163delinsCC	VUS	1 lab	1197ed279e
21:47552005 COL6A2 C>T	21	47552005	47552005	C	T	COL6A2	c.2599C>T	NM_001849.4	NP_001840.3:p.(Arg867Trp)	NC_000021.8:g.47552005C>T	VUS	1 lab	119825dd8b
17:8424516 MYH10 C>A	17	8424516	8424516	C	A	MYH10	c.2045G>T	NM_001256012.3	NP_001242941.1:p.(Arg682Leu)	NC_000017.10:g.8424516C>A	VUS	1 lab	119995bc4b
7:6037024 PMS2 G>GCTTCACACACA	7	6037024	6037026	G	GCTTCACACACA	PMS2	c.735_736insTGTGTGTGAAG	NM_000535.7	NP_000526.2:p.(Pro246CysfsTer3)	NC_000007.13:g.6037025_6037026insTTCACACACAC	(Likely) pathogenic	1 lab	1a408b5d79
1:145281384 NOTCH2NLA G>A	1	145281384	145281384	G	A	NOTCH2NLA	c.314G>A	NM_203458.6	NP_982283.2:p.(Trp105Ter)	NC_000001.10:g.145281384G>A	(Likely) benign	1 lab	119c5eafc5
3:195966431 PCYT1A G>A	3	195966431	195966431	G	A	PCYT1A	c.884C>T	NM_001312673.2	NP_001299602.1:p.(Pro295Leu)	NC_000003.11:g.195966431G>A	VUS	1 lab	119cf30156
5:1037980 NKD2 G>A	5	1037980	1037980	G	A	NKD2	c.848G>A	NM_033120.4	NP_149111.1:p.(Arg283Gln)	NC_000005.9:g.1037980G>A	VUS	1 lab	119d338b8d
11:47256227 DDB2 C>T	11	47256227	47256227	C	T	DDB2	c.702+4C>T	NM_000107.3	NP_000098.1:p.?	NC_000011.9:g.47256227C>T	VUS	1 lab	119d6115bc
3:56591288 CCDC66 A>AGGGGTAAGCAGGGGTAAGCT	3	56591288	56591298	A	AGGGGTAAGCAGGGGTAAGCT	CCDC66	c.11+16_11+17insAGGGGTAAGCTGGGGTAAGC	NM_001141947.3	NP_001135419.1:p.?	NC_000003.11:g.56591297_56591298insAGGGGTAAGCTGGGGTAAGC	(Likely) benign	1 lab	119ea86b8a
3:41278183 CTNNB1 C>G	3	41278183	41278183	C	G	CTNNB1	c.2059C>G	NM_001904.4	NP_001895.1:p.(Pro687Ala)	NC_000003.11:g.41278183C>G	VUS	1 lab	119ed685f6
17:16089962 NCOR1 C>T	17	16089962	16089962	C	T	NCOR1	c.148G>A	NM_006311.4	NP_006302.2:p.(Val50Met)	NC_000017.10:g.16089962C>T	(Likely) benign	1 lab	119f915e5b
X:9907369 SHROOM2 C>T	X	9907369	9907369	C	T	SHROOM2	c.4274C>T	NM_001649.4	NP_001640.1:p.(Ser1425Leu)	NC_000023.10:g.9907369C>T	(Likely) benign	1 lab	119fd4af81
16:72821110 ZFHX3 T>C	16	72821110	72821110	T	C	ZFHX3	c.11065A>G	NM_006885.4	NP_008816.3:p.(Lys3689Glu)	NC_000016.9:g.72821110T>C	(Likely) benign	1 lab	119fd4b387
2:152581419 NEB T>C	2	152581419	152581419	T	C	NEB	c.459A>G	NM_001164508.2	NP_001157980.2:p.(Lys153=)	NC_000002.11:g.152581419T>C	(Likely) benign	1 lab	11a39f3cdb
15:23892203 MAGEL2 C>T	15	23892203	23892203	C	T	MAGEL2	c.687G>A	NM_019066.5	NP_061939.3:p.(Met229Ile)	NC_000015.9:g.23892203C>T	(Likely) benign	1 lab	11a43e0689
5:67593308 PIK3R1 A>G	5	67593308	67593308	A	G	PIK3R1	c.2054A>G	NM_181523.3	NP_852664.1:p.(Tyr685Cys)	NC_000005.9:g.67593308A>G	VUS	1 lab	11a47992bd
6:29640509 ZFP57 C>T	6	29640509	29640509	C	T	ZFP57	c.1379G>A	NM_001109809.5	NP_001103279.2:p.(Arg460Lys)	NC_000006.11:g.29640509C>T	VUS	1 lab	11a4a8eb38
14:23393746 PRMT5 C>G	14	23393746	23393746	C	G	PRMT5	c.1018G>C	NM_006109.5	NP_006100.2:p.(Ala340Pro)	NC_000014.8:g.23393746C>G	VUS	1 lab	11a4cec2c5
5:37051902 NIPBL A>G	5	37051902	37051902	A	G	NIPBL	c.6976A>G	NM_133433.4	NP_597677.2:p.(Met2326Val)	NC_000005.9:g.37051902A>G	VUS	1 lab	1a43efecf4
11:57379378 SERPING1 C>T	11	57379378	57379378	C	T	SERPING1	c.1218C>T	NM_000062.2	NP_000053.2:p.(Ser406=)	NC_000011.9:g.57379378C>T	(Likely) benign	1 lab	1aaa0b3c0a
19:11098390 SMARCA4 T>C	19	11098390	11098390	T	C	SMARCA4	c.908T>C	NM_003072.5	NP_003063.2:p.(Ile303Thr)	NC_000019.9:g.11098390T>C	VUS	1 lab	11a69a5770
X:106845337 FRMPD3 C>G	X	106845337	106845337	C	G	FRMPD3	c.4068C>G	NM_001388459.1	NP_001375388.1:p.(Ser1356Arg)	NC_000023.10:g.106845337C>G	VUS	1 lab	11a6cd165b
13:35745400 NBEA T>G	13	35745400	35745400	T	G	NBEA	c.4243-9T>G	NM_001385012.1	NP_001371941.1:p.?	NC_000013.10:g.35745400T>G	VUS	1 lab	11a80fce97
4:185623279 CENPU GCTTT>G	4	185623279	185623287	GCTTT	G	CENPU	c.884_887del	NM_024629.4	NP_078905.2:p.(Glu295AlafsTer4)	NC_000004.11:g.185623284_185623287del	VUS	1 lab	11a9103439
2:179550314 TTN G>T	2	179550314	179550314	G	T	TTN	c.32323C>A	NM_001267550.2	NP_001254479.2:p.(Pro10775Thr)	NC_000002.11:g.179550314G>T	VUS	1 lab	11a9916d24
10:97440345 TCTN3 A>T	10	97440345	97440345	A	T	TCTN3	c.1474T>A	NM_015631.6	NP_056446.4:p.(Cys492Ser)	NC_000010.10:g.97440345A>T	VUS	1 lab	11a9a1c3a0
3:136046528 PCCB C>T	3	136046528	136046528	C	T	PCCB	c.1352C>T	NM_000532.5	NP_000523.2:p.(Thr451Ile)	NC_000003.11:g.136046528C>T	VUS	1 lab	11abce929d
9:116154428 ALAD C>G	9	116154428	116154428	C	G	ALAD	c.135G>C	NM_000031.6	NP_000022.3:p.(Gln45His)	NC_000009.11:g.116154428C>G	VUS	1 lab	11ad0d8b0c
1:180775287 XPR1 C>G	1	180775287	180775287	C	G	XPR1	c.537C>G	NM_004736.4	NP_004727.2:p.(His179Gln)	NC_000001.10:g.180775287C>G	(Likely) benign	1 lab	11ad4789d9
2:74076615 STAMBP G>T	2	74076615	74076615	G	T	STAMBP	c.867+1G>T	NM_213622.4	NP_998787.1:p.?	NC_000002.11:g.74076615G>T	VUS	1 lab	11af6ec9cd
22:51112921 SHANK3 C>CA	22	51112921	51112922	C	CA	SHANK3	c.79_80insA	NM_001372044.2	NP_001358973.1:p.(Pro27HisfsTer119)	NC_000022.10:g.51112921_51112922insA	VUS	1 lab	11b025d80b
3:42729685 KLHL40 C>T	3	42729685	42729685	C	T	KLHL40	c.1204C>T	NM_152393.4	NP_689606.2:p.(Arg402Cys)	NC_000003.11:g.42729685C>T	VUS	1 lab	11b112bec8
12:52967264 KRT74 C>T	12	52967264	52967264	C	T	KRT74	c.298G>A	NM_175053.4	NP_778223.2:p.(Gly100Arg)	NC_000012.11:g.52967264C>T	(Likely) benign	1 lab	11b1e23823
15:28501123 HERC2 G>C	15	28501123	28501123	G	C	HERC2	c.2766C>G	NM_004667.6	NP_004658.3:p.(Asn922Lys)	NC_000015.9:g.28501123G>C	VUS	1 lab	11b2946b15
1:110740187 SLC6A17 C>T	1	110740187	110740187	C	T	SLC6A17	c.1781C>T	NM_001010898.4	NP_001010898.1:p.(Thr594Met)	NC_000001.10:g.110740187C>T	VUS	1 lab	11bf129aa1
11:102076818 YAP1 G>GCAATGCGGAATATCAATCCCAGCACAGCAAATTCTCCAAAATGTCAGGAGTTAGCCCTGCGTAGCCAGTTACCAACACTGGAGCAGGATGGTGGGAC	11	102076818	102076819	G	GCAATGCGGAATATCAATCCCAGCACAGCAAATTCTCCAAAATGTCAGGAGTTAGCCCTGCGTAGCCAGTTACCAACACTGGAGCAGGATGGTGGGAC	YAP1	c.984+13_984+14insCAATGCGGAATATCAATCCCAGCACAGCAAATTCTCCAAAATGTCAGGAGTTAGCCCTGCGTAGCCAGTTACCAACACTGGAGCAGGATGGTGGGAC	NM_001130145.3	NP_001123617.1:p.?	NC_000011.9:g.102076818_102076819insCAATGCGGAATATCAATCCCAGCACAGCAAATTCTCCAAAATGTCAGGAGTTAGCCCTGCGTAGCCAGTTACCAACACTGGAGCAGGATGGTGGGAC	VUS	1 lab	11b62ca944
13:49796268 MLNR TTC>T	13	49796268	49796274	TTC	T	MLNR	c.999_1000del	NM_001507.1	NP_001498.1:p.(Gln334ValfsTer3)	NC_000013.10:g.49796273_49796274del	(Likely) benign	1 lab	11b76ad5af
1:7723425 CAMTA1 G>A	1	7723425	7723425	G	A	CAMTA1	c.818G>A	NM_015215.4	NP_056030.1:p.(Ser273Asn)	NC_000001.10:g.7723425G>A	(Likely) benign	1 lab	11b7c42082
11:89070658 NOX4 T>C	11	89070658	89070658	T	C	NOX4	c.1472A>G	NM_016931.5	NP_058627.2:p.(Tyr491Cys)	NC_000011.9:g.89070658T>C	VUS	1 lab	11f59a310f
12:112036785 ATXN2 C>G	12	112036785	112036785	C	G	ATXN2	c.54G>C	NM_001372574.1	NP_001359503.1:p.(Gln18His)	NC_000012.11:g.112036785C>G	(Likely) benign	1 lab	11b90aeffc
9:2186224 SMARCA2 C>T	9	2186224	2186224	C	T	SMARCA2	c.4590C>T	NM_003070.5	NP_003061.3:p.(Ser1530=)	NC_000009.11:g.2186224C>T	(Likely) benign	1 lab	11b933a1bd
6:51523801 PKHD1 A>G	6	51523801	51523801	A	G	PKHD1	c.11123T>C	NM_138694.4	NP_619639.3:p.(Met3708Thr)	NC_000006.11:g.51523801A>G	VUS	1 lab	11b973cdd0
3:172165748 GHSR C>A	3	172165748	172165748	C	A	GHSR	c.456G>T	NM_198407.2	NP_940799.1:p.(Lys152Asn)	NC_000003.11:g.172165748C>A	VUS	1 lab	11ba0a4fb4
12:2102323 DCP1B C>T	12	2102323	2102323	C	T	DCP1B	c.319+107G>A	NM_152640.5	NP_689853.3:p.?	NC_000012.11:g.2102323C>T	(Likely) benign	1 lab	11baa80169
11:70333479 SHANK2 C>G	11	70333479	70333479	C	G	SHANK2	c.2919G>C	NM_012309.5	NP_036441.2:p.(Pro973=)	NC_000011.9:g.70333479C>G	(Likely) benign	1 lab	11bb040379
7:127975999 RBM28 G>GTCA	7	127975999	127976010	G	GTCA	RBM28	c.708_710dup	NM_018077.3	NP_060547.2:p.(Asp241dup)	NC_000007.13:g.127976008_127976010dup	VUS	1 lab	11bb9f38d1
4:191003270 MISSING C>A	4	191003270	191003270	C	A	MISSING				NC_000004.11:g.191003270C>A	VUS	1 lab	11c0571cb5
6:157488272 ARID1B A>T	6	157488272	157488272	A	T	ARID1B	c.3188A>T	NM_001374828.1	NP_001361757.1:p.(Gln1063Leu)	NC_000006.11:g.157488272A>T	(Likely) benign	1 lab	11c10b317b
19:42840451 MEGF8 C>T	19	42840451	42840451	C	T	MEGF8	c.1197C>T	NM_001271938.2	NP_001258867.1:p.(Pro399=)	NC_000019.9:g.42840451C>T	(Likely) benign	1 lab	11c2ab358a
4:88583555 DMP1 G>A	4	88583555	88583555	G	A	DMP1	c.625G>A	NM_004407.4	NP_004398.1:p.(Glu209Lys)	NC_000004.11:g.88583555G>A	VUS	1 lab	11c5a786ae
6:148841469 SASH1 C>T	6	148841469	148841469	C	T	SASH1	c.1209+440C>T	NM_015278.5	NP_056093.3:p.?	NC_000006.11:g.148841469C>T	VUS	1 lab	11c73565a3
12:51086797 DIP2B G>A	12	51086797	51086797	G	A	DIP2B	c.1719+1G>A	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51086797G>A	(Likely) pathogenic	1 lab	11c87b8c73
14:90437575 TDP1 A>G	14	90437575	90437575	A	G	TDP1	c.716A>G	NM_018319.4	NP_060789.2:p.(His239Arg)	NC_000014.8:g.90437575A>G	(Likely) benign	1 lab	11c8834ff8
2:100266130 AFF3 T>C	2	100266130	100266130	T	C	AFF3	c.1144-2A>G	NM_001386135.1	NP_001373064.1:p.?	NC_000002.11:g.100266130T>C	VUS	1 lab	11c96b09b5
5:5464935 ICE1 G>T	5	5464935	5464935	G	T	ICE1	c.5488G>T	NM_015325.3	NP_056140.1:p.(Asp1830Tyr)	NC_000005.9:g.5464935G>T	(Likely) benign	1 lab	11c9764a0c
7:151834220 KMT2C C>G	7	151834220	151834220	C	G	KMT2C	c.14644-211G>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151834220C>G	(Likely) benign	1 lab	11c9c3cc6f
11:58919721 FAM111A T>A	11	58919721	58919721	T	A	FAM111A	c.580T>A	NM_001312909.2	NP_001299838.1:p.(Cys194Ser)	NC_000011.9:g.58919721T>A	(Likely) benign	1 lab	11ca3e6a5a
9:95481384 BICD2 C>T	9	95481384	95481384	C	T	BICD2	c.1543G>A	NM_001003800.2	NP_001003800.1:p.(Glu515Lys)	NC_000009.11:g.95481384C>T	VUS	1 lab	11ca966ae3
6:133014444 VNN1 A>C	6	133014444	133014444	A	C	VNN1	c.545T>G	NM_004666.3	NP_004657.2:p.(Phe182Cys)	NC_000006.11:g.133014444A>C	(Likely) benign	1 lab	11cc1cebbe
16:75665347 KARS1 T>A	16	75665347	75665347	T	A	KARS1	c.1219A>T	NM_005548.3	NP_005539.1:p.(Lys407Ter)	NC_000016.9:g.75665347T>A	(Likely) pathogenic	1 lab	11cc627ef1
22:40059717 CACNA1I G>C	22	40059717	40059717	G	C	CACNA1I	c.3474-6G>C	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40059717G>C	(Likely) benign	1 lab	11ccd9c0b3
17:79479634 ACTG1 G>A	17	79479634	79479634	G	A	ACTG1	c.-7+126C>T	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79479634G>A	(Likely) benign	1 lab	11ce1bd6ce
20:10630248 JAG1 C>T	20	10630248	10630248	C	T	JAG1	c.1270G>A	NM_000214.3	NP_000205.1:p.(Ala424Thr)	NC_000020.10:g.10630248C>T	(Likely) benign	1 lab	11cf530c35
6:7585326 DSP G>T	6	7585326	7585326	G	T	DSP	c.7831G>T	NM_004415.2	NP_004406.2:p.(Asp2611Tyr)	NC_000006.11:g.7585326G>T	VUS	1 lab	1aae7996f6
12:46320421 SCAF11 G>A	12	46320421	46320421	G	A	SCAF11	c.3063C>T	NM_004719.3	NP_004710.2:p.(Pro1021=)	NC_000012.11:g.46320421G>A	(Likely) benign	1 lab	11d02fac09
8:99170404 POP1 C>G	8	99170404	99170404	C	G	POP1	c.2980C>G	NM_001145860.2	NP_001139332.1:p.(Leu994Val)	NC_000008.10:g.99170404C>G	(Likely) benign	1 lab	11d21fb57e
3:133339042 TOPBP1 G>A	3	133339042	133339042	G	A	TOPBP1	c.3328C>T	NM_007027.4	NP_008958.2:p.(Arg1110Cys)	NC_000003.11:g.133339042G>A	VUS	1 lab	11d30c60bb
1:22161190 HSPG2 C>T	1	22161190	22161190	C	T	HSPG2	c.10702G>A	NM_005529.7	NP_005520.4:p.(Val3568Ile)	NC_000001.10:g.22161190C>T	(Likely) benign	1 lab	11d35bcbb8
X:10437792 MID1 G>A	X	10437792	10437792	G	A	MID1	c.1230C>T	NM_000381.4	NP_000372.1:p.(Ser410=)	NC_000023.10:g.10437792G>A	(Likely) benign	1 lab	11d3c90966
1:152282111 FLG T>C	1	152282111	152282111	T	C	FLG	c.5251A>G	NM_002016.2	NP_002007.1:p.(Thr1751Ala)	NC_000001.10:g.152282111T>C	(Likely) benign	1 lab	11d736d859
3:47163422 SETD2 C>G	3	47163422	47163422	C	G	SETD2	c.2704G>C	NM_014159.7	NP_054878.5:p.(Glu902Gln)	NC_000003.11:g.47163422C>G	(Likely) benign	1 lab	11d822c4d0
9:139326958 INPP5E C>T	9	139326958	139326958	C	T	INPP5E	c.1360G>A	NM_019892.6	NP_063945.2:p.(Asp454Asn)	NC_000009.11:g.139326958C>T	VUS	1 lab	11d8cfd3b5
1:19204035 ALDH4A1 G>A	1	19204035	19204035	G	A	ALDH4A1	c.1012C>T	NM_003748.4	NP_003739.2:p.(Arg338Cys)	NC_000001.10:g.19204035G>A	VUS	1 lab	11d914002e
11:4112533 STIM1 G>A	11	4112533	4112533	G	A	STIM1	c.1656G>A	NM_001382567.1	NP_001369496.1:p.(Ser552=)	NC_000011.9:g.4112533G>A	VUS	1 lab	11d937b38e
11:36597187 RAG1 G>A	11	36597187	36597187	G	A	RAG1	c.2333G>A	NM_000448.2	NP_000439.1:p.(Arg778Gln)	NC_000011.9:g.36597187G>A	(Likely) pathogenic	1 lab	1aafa6b8e5
8:141595395 AGO2 G>A	8	141595395	141595395	G	A	AGO2	c.38C>T	NM_012154.5	NP_036286.2:p.(Ala13Val)	NC_000008.10:g.141595395G>A	(Likely) benign	1 lab	11dc77a58d
9:119106968 PAPPA A>T	9	119106968	119106968	A	T	PAPPA	c.3758A>T	NM_002581.5	NP_002572.2:p.(Asp1253Val)	NC_000009.11:g.119106968A>T	VUS	1 lab	11dd38908a
12:21608132 PYROXD1 C>T	12	21608132	21608132	C	T	PYROXD1	c.555C>T	NM_024854.5	NP_079130.2:p.(Phe185=)	NC_000012.11:g.21608132C>T	(Likely) benign	1 lab	11ddb8398f
2:152421631 NEB T>C	2	152421631	152421631	T	C	NEB	c.18398A>G	NM_001164508.2	NP_001157980.2:p.(Lys6133Arg)	NC_000002.11:g.152421631T>C	VUS	1 lab	11df199daf
1:176525968 PAPPA2 CACT>C	1	176525968	176525976	CACT	C	PAPPA2	c.516_518del	NM_020318.3	NP_064714.2:p.(Thr174del)	NC_000001.10:g.176525974_176525976del	VUS	1 lab	11e18b2911
7:107204424 DUS4L A>C	7	107204424	107204424	A	C	DUS4L	c.-341A>C	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204424A>C	(Likely) benign	1 lab	11e275cb45
16:89628158 RPL13 C>T	16	89628158	89628158	C	T	RPL13	c.419C>T	NM_000977.4	NP_000968.2:p.(Ser140Phe)	NC_000016.9:g.89628158C>T	VUS	1 lab	11e28f88cf
20:43042314 HNF4A C>A	20	43042314	43042314	C	A	HNF4A	c.386-20C>A	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43042314C>A	VUS	1 lab	11e30963d1
19:39230789 CAPN12 C>T	19	39230789	39230789	C	T	CAPN12	c.631G>A	NM_144691.4	NP_653292.2:p.(Val211Met)	NC_000019.9:g.39230789C>T	VUS	1 lab	11e3faae59
20:45865065 ZMYND8 C>T	20	45865065	45865065	C	T	ZMYND8	c.2856+5G>A	NM_001281775.3	NP_001268704.1:p.?	NC_000020.10:g.45865065C>T	VUS	1 lab	11e48cee70
13:31035512 HMGB1 T>A	13	31035512	31035512	T	A	HMGB1	c.630A>T	NM_002128.7	NP_002119.1:p.(Glu210Asp)	NC_000013.10:g.31035512T>A	(Likely) benign	1 lab	11e52a0fe8
3:49112096 QRICH1 T>TG	3	49112096	49112097	T	TG	QRICH1	c.309+2045_309+2046insC	NM_198880.3	NP_942581.1:p.?	NC_000003.11:g.49112096_49112097insG	(Likely) benign	1 lab	11e8245b28
X:31645772 DMD C>T	X	31645772	31645772	C	T	DMD	c.8217+18G>A	NM_004006.3	NP_003997.2:p.?	NC_000023.10:g.31645772C>T	(Likely) benign	1 lab	11e94b3d6a
2:71827853 DYSF C>T	2	71827853	71827853	C	T	DYSF	c.3778C>T	NM_001130987.2	NP_001124459.1:p.(Arg1260Cys)	NC_000002.11:g.71827853C>T	VUS	1 lab	11ea6c2cc1
4:1806252 FGFR3 CAGAA>C	4	1806252	1806258	CAGAA	C	FGFR3	c.1266+8_1266+11del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1806255_1806258del	(Likely) benign	1 lab	11ea78e6fc
15:53049961 ONECUT1 G>A	15	53049961	53049961	G	A	ONECUT1	c.1189C>T	NM_004498.4	NP_004489.1:p.(Arg397Cys)	NC_000015.9:g.53049961G>A	VUS	1 lab	11eb41702b
19:18900792 COMP C>T	19	18900792	18900792	C	T	COMP	c.349G>A	NM_000095.3	NP_000086.2:p.(Gly117Ser)	NC_000019.9:g.18900792C>T	VUS	1 lab	11ebd458f5
3:133664015 SLCO2A1 T>C	3	133664015	133664015	T	C	SLCO2A1	c.1385A>G	NM_005630.3	NP_005621.2:p.(Asn462Ser)	NC_000003.11:g.133664015T>C	VUS	1 lab	1a471ccd56
15:89837139 FANCI G>T	15	89837139	89837139	G	T	FANCI	c.2367G>T	NM_001113378.2	NP_001106849.1:p.(Ala789=)	NC_000015.9:g.89837139G>T	(Likely) benign	1 lab	11ec5898d5
7:151970695 KMT2C A>T	7	151970695	151970695	A	T	KMT2C	c.1012+95T>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151970695A>T	(Likely) benign	1 lab	11ef7694d2
20:39317097 MAFB G>A	20	39317097	39317097	G	A	MAFB	c.394C>T	NM_005461.5	NP_005452.2:p.(His132Tyr)	NC_000020.10:g.39317097G>A	VUS	1 lab	11f0834e80
1:27218972 GPATCH3 A>C	1	27218972	27218972	A	C	GPATCH3	c.1291T>G	NM_022078.3	NP_071361.2:p.(Cys431Gly)	NC_000001.10:g.27218972A>C	(Likely) benign	1 lab	11f37b7d4f
2:179417557 TTN G>C	2	179417557	179417557	G	C	TTN	c.90070C>G	NM_001267550.2	NP_001254479.2:p.(Pro30024Ala)	NC_000002.11:g.179417557G>C	VUS	1 lab	11f3d72c76
1:8420892 RERE G>A	1	8420892	8420892	G	A	RERE	c.2675C>T	NM_001042681.2	NP_001036146.1:p.(Ala892Val)	NC_000001.10:g.8420892G>A	VUS	1 lab	11f4c9ee14
15:89837191 FANCI A>G	15	89837191	89837191	A	G	FANCI	c.2419A>G	NM_001113378.2	NP_001106849.1:p.(Met807Val)	NC_000015.9:g.89837191A>G	VUS	1 lab	11f71c574c
12:88513977 CEP290 A>G	12	88513977	88513977	A	G	CEP290	c.1436T>C	NM_025114.4	NP_079390.3:p.(Ile479Thr)	NC_000012.11:g.88513977A>G	VUS	1 lab	11fbc9c597
X:37706750 DYNLT3 T>C	X	37706750	37706750	T	C	DYNLT3	c.14A>G	NM_006520.3	NP_006511.1:p.(His5Arg)	NC_000023.10:g.37706750T>C	(Likely) benign	1 lab	11fd448883
15:99251303 IGF1R T>C	15	99251303	99251303	T	C	IGF1R	c.607T>C	NM_000875.5	NP_000866.1:p.(Tyr203His)	NC_000015.9:g.99251303T>C	VUS	1 lab	11fd7fa7da
5:58726183 PDE4D G>A	5	58726183	58726183	G	A	PDE4D	c.456-214389C>T	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58726183G>A	VUS	1 lab	11fe69706a
11:66458888 SPTBN2 C>T	11	66458888	66458888	C	T	SPTBN2	c.5432G>A	NM_006946.4	NP_008877.2:p.(Arg1811His)	NC_000011.9:g.66458888C>T	VUS	1 lab	1200260dcd
15:23006334 NIPA2 G>GAT	15	23006334	23006336	G	GAT	NIPA2	c.968_969dup	NM_030922.7	NP_112184.4:p.(Leu324IlefsTer16)	NC_000015.9:g.23006335_23006336dup	VUS	1 lab	1200f1849f
6:41557561 FOXP4 G>A	6	41557561	41557561	G	A	FOXP4	c.1118G>A	NM_001012426.2	NP_001012426.1:p.(Arg373Gln)	NC_000006.11:g.41557561G>A	VUS	1 lab	1202490f15
16:22269982 EEF2K G>A	16	22269982	22269982	G	A	EEF2K	c.1197G>A	NM_013302.5	NP_037434.2:p.(Ser399=)	NC_000016.9:g.22269982G>A	VUS	1 lab	1202cb851e
1:52850910 ORC1 C>G	1	52850910	52850910	C	G	ORC1	c.1506G>C	NM_004153.4	NP_004144.2:p.(Glu502Asp)	NC_000001.10:g.52850910C>G	VUS	1 lab	1203973141
2:179399863 TTN G>T	2	179399863	179399863	G	T	TTN	c.101479C>A	NM_001267550.2	NP_001254479.2:p.(Arg33827Ser)	NC_000002.11:g.179399863G>T	VUS	1 lab	1204406f01
7:48311468 ABCA13 A>G	7	48311468	48311468	A	G	ABCA13	c.2205A>G	NM_152701.5	NP_689914.3:p.(Ser735=)	NC_000007.13:g.48311468A>G	(Likely) benign	1 lab	12061175e3
5:122435540 PRDM6 A>G	5	122435540	122435540	A	G	PRDM6	c.784A>G	NM_001136239.4	NP_001129711.1:p.(Ile262Val)	NC_000005.9:g.122435540A>G	(Likely) benign	1 lab	1206775005
10:11330489 CELF2 GC>G	10	11330489	11330490	GC	G	CELF2	c.951del	NM_006561.4	NP_006552.3:p.(Ser317ArgfsTer23)	NC_000010.10:g.11330490del	VUS	1 lab	1a482b9933
10:102709921 SLF2 A>G	10	102709921	102709921	A	G	SLF2	c.3209A>G	NM_018121.4	NP_060591.3:p.(Asp1070Gly)	NC_000010.10:g.102709921A>G	VUS	1 lab	1209696b32
X:53565924 HUWE1 G>A	X	53565924	53565924	G	A	HUWE1	c.11750C>T	NM_031407.7	NP_113584.3:p.(Pro3917Leu)	NC_000023.10:g.53565924G>A	VUS	1 lab	120ab46d43
13:42189142 VWA8 C>T	13	42189142	42189142	C	T	VWA8	c.4690G>A	NM_015058.2	NP_055873.1:p.(Val1564Met)	NC_000013.10:g.42189142C>T	(Likely) benign	1 lab	120aeadc2d
8:144992347 PLEC C>T	8	144992347	144992347	C	T	PLEC	c.11642G>A	NM_201384.3	NP_958786.1:p.(Arg3881His)	NC_000008.10:g.144992347C>T	(Likely) benign	1 lab	120c00e50b
19:43262236 PSG8 C>A	19	43262236	43262236	C	A	PSG8	c.627G>T	NM_182707.3	NP_874366.1:p.(Lys209Asn)	NC_000019.9:g.43262236C>A	VUS	1 lab	120c14be0d
1:27023181 ARID1A C>T	1	27023181	27023181	C	T	ARID1A	c.287C>T	NM_006015.6	NP_006006.3:p.(Ala96Val)	NC_000001.10:g.27023181C>T	VUS	1 lab	120d052769
13:73366689 PIBF1 A>G	13	73366689	73366689	A	G	PIBF1	c.353+4A>G	NM_006346.4	NP_006337.2:p.?	NC_000013.10:g.73366689A>G	(Likely) benign	1 lab	120d4b2219
2:179610904 TTN G>A	2	179610904	179610904	G	A	TTN	c.11312-4256C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179610904G>A	(Likely) benign	1 lab	120d60dc7c
14:58060707 SLC35F4 T>C	14	58060707	58060707	T	C	SLC35F4	c.239A>G	NM_001306087.2	NP_001293016.1:p.(Gln80Arg)	NC_000014.8:g.58060707T>C	(Likely) benign	1 lab	120e1393df
2:14774623 LRATD1 G>A	2	14774623	14774623	G	A	LRATD1	c.520G>A	NM_145175.4	NP_660158.2:p.(Val174Met)	NC_000002.11:g.14774623G>A	VUS	1 lab	120fa26fa0
2:210543361 MAP2 C>A	2	210543361	210543361	C	A	MAP2	c.328C>A	NM_001375505.1	NP_001362434.1:p.(Gln110Lys)	NC_000002.11:g.210543361C>A	VUS	1 lab	12118543c2
8:11566432 GATA4 A>G	8	11566432	11566432	A	G	GATA4	c.611A>G	NM_001308093.3	NP_001295022.1:p.(Asn204Ser)	NC_000008.10:g.11566432A>G	(Likely) benign	1 lab	121228b894
11:6653765 DCHS1 G>T	11	6653765	6653765	G	T	DCHS1	c.2978C>A	NM_003737.4	NP_003728.1:p.(Thr993Asn)	NC_000011.9:g.6653765G>T	(Likely) benign	1 lab	1212c3212f
19:42840311 MEGF8 C>T	19	42840311	42840311	C	T	MEGF8	c.1057C>T	NM_001271938.2	NP_001258867.1:p.(Arg353Cys)	NC_000019.9:g.42840311C>T	VUS	1 lab	1212dff28f
17:74152395 RNF157 C>T	17	74152395	74152395	C	T	RNF157	c.1421G>A	NM_052916.3	NP_443148.1:p.(Gly474Asp)	NC_000017.10:g.74152395C>T	(Likely) benign	1 lab	12145764c0
4:175184173 FBXO8 T>C	4	175184173	175184173	T	C	FBXO8	c.71A>G	NM_012180.3	NP_036312.2:p.(Tyr24Cys)	NC_000004.11:g.175184173T>C	VUS	1 lab	12149a3089
X:2854153 ARSL T>A	X	2854153	2854153	T	A	ARSL	c.1411+630A>T	NM_000047.3	NP_000038.2:p.?	NC_000023.10:g.2854153T>A	(Likely) benign	1 lab	12486283d8
16:70504253 FCSK CCTCAGCCAGTGAGTTCCTG>C	16	70504253	70504279	CCTCAGCCAGTGAGTTCCTG	C	FCSK	c.1000_1018del	NM_145059.3	NP_659496.2:p.(Glu335HisfsTer55)	NC_000016.9:g.70504261_70504279del	(Likely) pathogenic	1 lab	121ac1c716
3:49878451 TRAIP C>A	3	49878451	49878451	C	A	TRAIP	c.672G>T	NM_005879.3	NP_005870.2:p.(Lys224Asn)	NC_000003.11:g.49878451C>A	VUS	1 lab	121af873ef
2:217347655 SMARCAL1 A>T	2	217347655	217347655	A	T	SMARCAL1	c.2820A>T	NM_014140.4	NP_054859.2:p.(Arg940Ser)	NC_000002.11:g.217347655A>T	VUS	1 lab	121ba36141
9:32634743 TAF1L G>A	9	32634743	32634743	G	A	TAF1L	c.835C>T	NM_153809.2	NP_722516.1:p.(Arg279Trp)	NC_000009.11:g.32634743G>A	VUS	1 lab	121dd3cd4e
13:42876835 AKAP11 T>G	13	42876835	42876835	T	G	AKAP11	c.3953T>G	NM_016248.4	NP_057332.1:p.(Phe1318Cys)	NC_000013.10:g.42876835T>G	(Likely) benign	1 lab	121e16d488
1:144857691 PDE4DIP C>T	1	144857691	144857691	C	T	PDE4DIP	c.6561G>A	NM_001395426.1	NP_001382355.1:p.(Met2187Ile)	NC_000001.10:g.144857691C>T	VUS	1 lab	122234fd53
2:152521999 NEB T>C	2	152521999	152521999	T	C	NEB	c.5086A>G	NM_001164508.2	NP_001157980.2:p.(Ile1696Val)	NC_000002.11:g.152521999T>C	VUS	1 lab	12257c3bfe
6:150023063 LATS1 T>C	6	150023063	150023063	T	C	LATS1	c.200A>G	NM_004690.4	NP_004681.1:p.(Asn67Ser)	NC_000006.11:g.150023063T>C	(Likely) benign	1 lab	1227f336b4
13:111279896 NAXD T>C	13	111279896	111279896	T	C	NAXD	c.441+2T>C	NM_001242882.2	NP_001229811.1:p.?	NC_000013.10:g.111279896T>C	VUS	1 lab	1227f3ba2f
1:152285975 FLG C>T	1	152285975	152285975	C	T	FLG	c.1387G>A	NM_002016.2	NP_002007.1:p.(Gly463Arg)	NC_000001.10:g.152285975C>T	VUS	1 lab	1228556427
7:150774120 FASTK G>T	7	150774120	150774120	G	T	FASTK	c.1428-6C>A	NM_006712.5	NP_006703.1:p.?	NC_000007.13:g.150774120G>T	VUS	1 lab	1228af9cd8
2:219508999 ZNF142 G>A	2	219508999	219508999	G	A	ZNF142	c.2840C>T	NM_001379659.1	NP_001366588.1:p.(Thr947Ile)	NC_000002.11:g.219508999G>A	(Likely) benign	1 lab	122a7b48e5
X:47478976 SYN1 G>C	X	47478976	47478976	G	C	SYN1	c.152C>G	NM_006950.3	NP_008881.2:p.(Ala51Gly)	NC_000023.10:g.47478976G>C	(Likely) benign	1 lab	122cfd87a7
7:39991261 CDK13 C>T	7	39991261	39991261	C	T	CDK13	c.1021C>T	NM_003718.5	NP_003709.3:p.(Pro341Ser)	NC_000007.13:g.39991261C>T	VUS	1 lab	122d81bb58
8:17872222 PCM1 C>T	8	17872222	17872222	C	T	PCM1	c.5714C>T	NM_006197.4	NP_006188.4:p.(Pro1905Leu)	NC_000008.10:g.17872222C>T	VUS	1 lab	122ee18557
X:54467324 TSR2 G>A	X	54467324	54467324	G	A	TSR2	c.172+111G>A	NM_058163.3	NP_477511.1:p.?	NC_000023.10:g.54467324G>A	VUS	1 lab	122f968427
14:76452145 IFT43 G>C	14	76452145	76452145	G	C	IFT43	c.16G>C	NM_001102564.3	NP_001096034.1:p.(Asp6His)	NC_000014.8:g.76452145G>C	(Likely) benign	1 lab	122ff15610
8:61654464 CHD7 C>T	8	61654464	61654464	C	T	CHD7	c.473C>T	NM_017780.4	NP_060250.2:p.(Ala158Val)	NC_000008.10:g.61654464C>T	(Likely) benign	1 lab	123041a37f
4:184614225 TRAPPC11 G>T	4	184614225	184614225	G	T	TRAPPC11	c.2162G>T	NM_021942.6	NP_068761.4:p.(Arg721Leu)	NC_000004.11:g.184614225G>T	(Likely) benign	1 lab	1230a44249
11:19174228 ZDHHC13 C>T	11	19174228	19174228	C	T	ZDHHC13	c.870C>T	NM_019028.3	NP_061901.2:p.(Cys290=)	NC_000011.9:g.19174228C>T	(Likely) benign	1 lab	1232ce1e37
16:89347444 ANKRD11 G>A	16	89347444	89347444	G	A	ANKRD11	c.5506C>T	NM_013275.6	NP_037407.4:p.(Pro1836Ser)	NC_000016.9:g.89347444G>A	(Likely) benign	1 lab	123493144d
1:154227643 UBAP2L C>T	1	154227643	154227643	C	T	UBAP2L	c.1925C>T	NM_014847.4	NP_055662.3:p.(Ala642Val)	NC_000001.10:g.154227643C>T	(Likely) benign	1 lab	1234dad770
2:231266161 SP140L A>G	2	231266161	231266161	A	G	SP140L	c.1500+3A>G	NM_138402.6	NP_612411.4:p.?	NC_000002.11:g.231266161A>G	(Likely) benign	1 lab	1234e8b65a
19:12155164 ZNF878 A>G	19	12155164	12155164	A	G	ZNF878	c.1052T>C	NM_001080404.3	NP_001073873.2:p.(Val351Ala)	NC_000019.9:g.12155164A>G	(Likely) benign	1 lab	123505fd20
15:53815527 WDR72 A>AAGAGAG	15	53815527	53815550	A	AAGAGAG	WDR72	c.3149-14_3149-9dup	NM_182758.4	NP_877435.3:p.?	NC_000015.9:g.53815545_53815550dup	(Likely) benign	1 lab	1ab131b09a
15:78393352 SH2D7 C>T	15	78393352	78393352	C	T	SH2D7	c.757C>T	NM_001101404.2	NP_001094874.1:p.(Arg253Trp)	NC_000015.9:g.78393352C>T	(Likely) benign	1 lab	12376796f2
10:460017 DIP2C T>C	10	460017	460017	T	C	DIP2C	c.893A>G	NM_014974.3	NP_055789.1:p.(Glu298Gly)	NC_000010.10:g.460017T>C	VUS	1 lab	12376e0f27
9:131452285 SET A>AGCC	9	131452285	131452300	A	AGCC	SET	c.73+364_73+366dup	NM_003011.4	NP_003002.2:p.?	NC_000009.11:g.131452298_131452300dup	VUS	1 lab	1237799dcc
11:118374787 KMT2A CAG>C	11	118374787	118374793	CAG	C	KMT2A	c.8185_8186del	NM_001197104.2	NP_001184033.1:p.(Ser2729Ter)	NC_000011.9:g.118374792_118374793del	(Likely) pathogenic	1 lab	1ab24a36b2
9:120476382 TLR4 T>C	9	120476382	120476382	T	C	TLR4	c.1976T>C	NM_138554.5	NP_612564.1:p.(Met659Thr)	NC_000009.11:g.120476382T>C	(Likely) benign	1 lab	1238a55d70
6:157100005 ARID1B C>CGGAGGA	6	157100005	157100019	C	CGGAGGA	ARID1B	c.1200_1205dup	NM_001374828.1	NP_001361757.1:p.(Gly401_Gly402dup)	NC_000006.11:g.157100014_157100019dup	VUS	1 lab	123aae2875
2:88879029 EIF2AK3 C>A	2	88879029	88879029	C	A	EIF2AK3	c.1886+7G>T	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88879029C>A	(Likely) benign	1 lab	123c6e1fe4
19:11354541 DOCK6 C>G	19	11354541	11354541	C	G	DOCK6	c.1041G>C	NM_020812.4	NP_065863.2:p.(Gln347His)	NC_000019.9:g.11354541C>G	VUS	1 lab	123d943379
2:152500345 NEB T>G	2	152500345	152500345	T	G	NEB	c.7943A>C	NM_001164508.2	NP_001157980.2:p.(Asp2648Ala)	NC_000002.11:g.152500345T>G	VUS	1 lab	123e36ca0c
1:55643810 USP24 C>T	1	55643810	55643810	C	T	USP24	c.325-5G>A	NM_015306.3	NP_056121.2:p.?	NC_000001.10:g.55643810C>T	(Likely) benign	1 lab	123ed4b511
19:40748517 AKT2 T>C	19	40748517	40748517	T	C	AKT2	c.365A>G	NM_001626.6	NP_001617.1:p.(Tyr122Cys)	NC_000019.9:g.40748517T>C	(Likely) benign	1 lab	12402ef985
19:33878956 PEPD C>T	19	33878956	33878956	C	T	PEPD	c.1184G>A	NM_000285.4	NP_000276.2:p.(Arg395Gln)	NC_000019.9:g.33878956C>T	(Likely) benign	1 lab	1ab3515f4b
8:6500552 MCPH1 C>G	8	6500552	6500552	C	G	MCPH1	c.2490C>G	NM_024596.5	NP_078872.3:p.(Asn830Lys)	NC_000008.10:g.6500552C>G	VUS	1 lab	12411e5443
X:99661885 PCDH19 C>T	X	99661885	99661885	C	T	PCDH19	c.1711G>A	NM_001184880.2	NP_001171809.1:p.(Gly571Ser)	NC_000023.10:g.99661885C>T	VUS	1 lab	12425cc229
2:219209673 PNKD G>A	2	219209673	219209673	G	A	PNKD	c.1127G>A	NM_015488.5	NP_056303.3:p.(Arg376His)	NC_000002.11:g.219209673G>A	VUS	1 lab	1242b1a003
11:47469402 RAPSN C>T	11	47469402	47469402	C	T	RAPSN	c.493G>A	NM_005055.5	NP_005046.2:p.(Val165Met)	NC_000011.9:g.47469402C>T	(Likely) pathogenic	1 lab	1243efe667
1:178834433 ANGPTL1 T>C	1	178834433	178834433	T	C	ANGPTL1	c.479A>G	NM_004673.4	NP_004664.1:p.(Asn160Ser)	NC_000001.10:g.178834433T>C	VUS	1 lab	1244844761
1:156107880 LMNA A>G	1	156107880	156107880	A	G	LMNA	c.1698+346A>G	NM_170707.4	NP_733821.1:p.?	NC_000001.10:g.156107880A>G	(Likely) benign	1 lab	12461fd713
17:80684446 FN3KRP A>G	17	80684446	80684446	A	G	FN3KRP	c.559A>G	NM_024619.4	NP_078895.2:p.(Arg187Gly)	NC_000017.10:g.80684446A>G	VUS	1 lab	12468a6a23
14:105412297 AHNAK2 A>G	14	105412297	105412297	A	G	AHNAK2	c.9491T>C	NM_138420.4	NP_612429.2:p.(Val3164Ala)	NC_000014.8:g.105412297A>G	(Likely) benign	1 lab	1246ac91f5
8:119936728 TNFRSF11B C>T	8	119936728	119936728	C	T	TNFRSF11B	c.1091G>A	NM_002546.4	NP_002537.3:p.(Ser364Asn)	NC_000008.10:g.119936728C>T	VUS	1 lab	124772ee04
11:103043847 DYNC2H1 A>G	11	103043847	103043847	A	G	DYNC2H1	c.5371A>G	NM_001377.3	NP_001368.2:p.(Met1791Val)	NC_000011.9:g.103043847A>G	VUS	1 lab	1248260124
7:107591674 LAMB1 G>A	7	107591674	107591674	G	A	LAMB1	c.3388C>T	NM_002291.3	NP_002282.2:p.(Arg1130Ter)	NC_000007.13:g.107591674G>A	VUS	1 lab	124963d891
11:108119688 ATM AG>A	11	108119688	108119689	AG	A	ATM	c.1095del	NM_000051.4	NP_000042.3:p.(Ile366PhefsTer24)	NC_000011.9:g.108119689del	VUS	1 lab	1249cc630b
22:38544628 PLA2G6 C>T	22	38544628	38544628	C	T	PLA2G6	c.210-2968G>A	NM_003560.4	NP_003551.2:p.?	NC_000022.10:g.38544628C>T	(Likely) benign	1 lab	124b9a4162
2:239161552 PER2 C>T	2	239161552	239161552	C	T	PER2	c.3111+1G>A	NM_022817.3	NP_073728.1:p.?	NC_000002.11:g.239161552C>T	(Likely) benign	1 lab	124c288a1b
X:131231360 FRMD7 A>G	X	131231360	131231360	A	G	FRMD7	c.218T>C	NM_194277.3	NP_919253.1:p.(Ile73Thr)	NC_000023.10:g.131231360A>G	(Likely) benign	1 lab	124cbafaef
7:42065836 GLI3 G>C	7	42065836	42065836	G	C	GLI3	c.1204C>G	NM_000168.6	NP_000159.3:p.(Pro402Ala)	NC_000007.13:g.42065836G>C	VUS	1 lab	124dfefd9e
5:93812816 KIAA0825 C>T	5	93812816	93812816	C	T	KIAA0825	c.1227G>A	NM_001145678.3	NP_001139150.1:p.(Glu409=)	NC_000005.9:g.93812816C>T	(Likely) benign	1 lab	124e1152ee
9:93978347 AUH A>G	9	93978347	93978347	A	G	AUH	c.936T>C	NM_001698.3	NP_001689.1:p.(Tyr312=)	NC_000009.11:g.93978347A>G	(Likely) benign	1 lab	124e4dae20
8:67998304 CSPP1 A>G	8	67998304	67998304	A	G	CSPP1	c.262A>G	NM_001382391.1	NP_001369320.1:p.(Lys88Glu)	NC_000008.10:g.67998304A>G	VUS	1 lab	12529cd142
3:172165412 GHSR C>T	3	172165412	172165412	C	T	GHSR	c.792G>A	NM_198407.2	NP_940799.1:p.(Met264Ile)	NC_000003.11:g.172165412C>T	(Likely) benign	1 lab	1252d5e10c
11:66003400 PACS1 C>T	11	66003400	66003400	C	T	PACS1	c.2239C>T	NM_018026.4	NP_060496.2:p.(Pro747Ser)	NC_000011.9:g.66003400C>T	VUS	1 lab	1255108682
X:114871258 PLS3 C>A	X	114871258	114871258	C	A	PLS3	c.859C>A	NM_005032.7	NP_005023.2:p.(Gln287Lys)	NC_000023.10:g.114871258C>A	(Likely) benign	1 lab	12558544d7
4:76861209 NAAA T>C	4	76861209	76861209	T	C	NAAA	c.316A>G	NM_014435.4	NP_055250.2:p.(Met106Val)	NC_000004.11:g.76861209T>C	(Likely) benign	1 lab	1259b14e7a
1:154573964 ADAR CT>C	1	154573964	154573968	CT	C	ADAR	c.1153del	NM_001111.5	NP_001102.3:p.(Arg385GlufsTer20)	NC_000001.10:g.154573968del	VUS	1 lab	125be6c9f2
X:136112420 GPR101 ACTT>A	X	136112420	136112427	ACTT	A	GPR101	c.1411_1413del	NM_054021.2	NP_473362.1:p.(Lys471del)	NC_000023.10:g.136112425_136112427del	VUS	1 lab	1260878ad2
5:137454567 NME5 T>C	5	137454567	137454567	T	C	NME5	c.495A>G	NM_003551.3	NP_003542.1:p.(Ile165Met)	NC_000005.9:g.137454567T>C	VUS	1 lab	126111b43e
17:48072196 DLX3 T>C	17	48072196	48072196	T	C	DLX3	c.167A>G	NM_005220.3	NP_005211.1:p.(Tyr56Cys)	NC_000017.10:g.48072196T>C	VUS	1 lab	12613a2ff7
2:179434901 TTN A>C	2	179434901	179434901	A	C	TTN	c.75958T>G	NM_001267550.2	NP_001254479.2:p.(Ser25320Ala)	NC_000002.11:g.179434901A>C	VUS	1 lab	12658107f2
17:40618525 ATP6V0A1 C>T	17	40618525	40618525	C	T	ATP6V0A1	c.196C>T	NM_001130021.3	NP_001123493.1:p.(Arg66Ter)	NC_000017.10:g.40618525C>T	(Likely) pathogenic	1 lab	12668575dc
9:135947055 CEL C>T	9	135947055	135947055	C	T	CEL	c.2166C>T	NM_001807.6	NP_001798.3:p.(Ala722=)	NC_000009.11:g.135947055C>T	(Likely) benign	1 lab	1267abda8f
4:119952173 SYNPO2 G>T	4	119952173	119952173	G	T	SYNPO2	c.2243G>T	NM_133477.3	NP_597734.2:p.(Ser748Ile)	NC_000004.11:g.119952173G>T	(Likely) benign	1 lab	1267c8a11e
5:68667274 RAD17 C>G	5	68667274	68667274	C	G	RAD17	c.-279-7C>G	NM_133338.3	NP_579916.1:p.?	NC_000005.9:g.68667274C>G	(Likely) benign	1 lab	1268396c9a
19:7184563 INSR G>A	19	7184563	7184563	G	A	INSR	c.738C>T	NM_000208.4	NP_000199.2:p.(Pro246=)	NC_000019.9:g.7184563G>A	(Likely) benign	1 lab	126ae556fe
2:135223793 TMEM163 C>T	2	135223793	135223793	C	T	TMEM163	c.559G>A	NM_030923.5	NP_112185.1:p.(Asp187Asn)	NC_000002.11:g.135223793C>T	(Likely) benign	1 lab	126b570919
11:70333756 SHANK2 G>T	11	70333756	70333756	G	T	SHANK2	c.2642C>A	NM_012309.5	NP_036441.2:p.(Pro881Gln)	NC_000011.9:g.70333756G>T	VUS	1 lab	126bdb6c34
19:50399291 IL4I1 G>A	19	50399291	50399291	G	A	IL4I1	c.33C>T	NM_152899.2	NP_690863.1:p.(Leu11=)	NC_000019.9:g.50399291G>A	VUS	1 lab	126be4866e
3:159997159 IFT80 A>G	3	159997159	159997159	A	G	IFT80	c.1665-7T>C	NM_020800.3	NP_065851.1:p.?	NC_000003.11:g.159997159A>G	(Likely) benign	1 lab	126e3dbc35
3:126739045 PLXNA1 C>A	3	126739045	126739045	C	A	PLXNA1	c.3896C>A	NM_032242.4	NP_115618.3:p.(Ala1299Asp)	NC_000003.11:g.126739045C>A	VUS	1 lab	126e3e46d0
11:108121561 ATM C>T	11	108121561	108121561	C	T	ATM	c.1369C>T	NM_000051.4	NP_000042.3:p.(Arg457Ter)	NC_000011.9:g.108121561C>T	(Likely) pathogenic	1 lab	126eecb06d
4:54325444 FIP1L1 CTTTT>C	4	54325444	54325464	CTTTT	C	FIP1L1	c.1638-8_1638-5del	NM_030917.4	NP_112179.2:p.?	NC_000004.11:g.54325461_54325464del	(Likely) benign	1 lab	1272e5794e
2:228194484 MFF ACACAT>A	2	228194484	228194492	ACACAT	A	MFF	c.-40-854_-40-850del	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228194488_228194492del	VUS	1 lab	1274741a80
5:140953255 DIAPH1 G>T	5	140953255	140953255	G	T	DIAPH1	c.2162C>A	NM_005219.5	NP_005210.3:p.(Pro721His)	NC_000005.9:g.140953255G>T	VUS	1 lab	127d6dbccd
19:14017268 CC2D1A A>AAGGACCCCC	19	14017268	14017277	A	AAGGACCCCC	CC2D1A	c.15_23dup	NM_017721.5	NP_060191.3:p.(Pro10_Gly12dup)	NC_000019.9:g.14017269_14017277dup	VUS	1 lab	12747e9642
11:70348373 SHANK2 C>T	11	70348373	70348373	C	T	SHANK2	c.2216G>A	NM_012309.5	NP_036441.2:p.(Arg739Gln)	NC_000011.9:g.70348373C>T	VUS	1 lab	1274ccc3c3
2:241528786 CAPN10 T>G	2	241528786	241528786	T	G	CAPN10	c.168T>G	NM_023083.4	NP_075571.2:p.(Phe56Leu)	NC_000002.11:g.241528786T>G	(Likely) benign	1 lab	1274e34a26
6:15468929 JARID2 A>G	6	15468929	15468929	A	G	JARID2	c.650A>G	NM_004973.4	NP_004964.2:p.(Lys217Arg)	NC_000006.11:g.15468929A>G	(Likely) benign	1 lab	127520b184
14:101348877 RTL1 C>T	14	101348877	101348877	C	T	RTL1	c.2249G>A	NM_001134888.3	NP_001128360.1:p.(Arg750His)	NC_000014.8:g.101348877C>T	VUS	1 lab	127577ea23
14:94041519 UNC79 T>C	14	94041519	94041519	T	C	UNC79	c.2186T>C	NM_001395159.1	NP_001382088.1:p.(Leu729Pro)	NC_000014.8:g.94041519T>C	VUS	1 lab	1277427752
16:2167566 PKD1 G>GA	16	2167566	2167567	G	GA	PKD1	c.1308dup	NM_001009944.3	NP_001009944.3:p.(Gln437SerfsTer82)	NC_000016.9:g.2167567dup	(Likely) pathogenic	1 lab	127780e58e
12:7361151 PEX5 G>T	12	7361151	7361151	G	T	PEX5	c.1280G>T	NM_001351132.2	NP_001338061.1:p.(Arg427Leu)	NC_000012.11:g.7361151G>T	VUS	1 lab	1279c6d90b
17:78306062 RNF213 T>G	17	78306062	78306062	T	G	RNF213	c.3774T>G	NM_001256071.3	NP_001243000.2:p.(Ser1258Arg)	NC_000017.10:g.78306062T>G	(Likely) benign	1 lab	1279d0b036
6:51497519 PKHD1 C>T	6	51497519	51497519	C	T	PKHD1	c.11509G>A	NM_138694.4	NP_619639.3:p.(Val3837Ile)	NC_000006.11:g.51497519C>T	(Likely) benign	1 lab	127b83a2f6
7:156798227 MNX1 G>A	7	156798227	156798227	G	A	MNX1	c.1193C>T	NM_005515.4	NP_005506.3:p.(Pro398Leu)	NC_000007.13:g.156798227G>A	(Likely) benign	1 lab	127c0e004f
4:8229418 SH3TC1 G>A	4	8229418	8229418	G	A	SH3TC1	c.1997G>A	NM_018986.5	NP_061859.4:p.(Arg666Gln)	NC_000004.11:g.8229418G>A	VUS	1 lab	127cbd298c
3:12623299 MKRN2 C>G	3	12623299	12623299	C	G	MKRN2	c.969-8C>G	NM_014160.5	NP_054879.3:p.?	NC_000003.11:g.12623299C>G	(Likely) benign	1 lab	127d1b7c00
1:22222758 HSPG2 C>T	1	22222758	22222758	C	T	HSPG2	c.109G>A	NM_005529.7	NP_005520.4:p.(Asp37Asn)	NC_000001.10:g.22222758C>T	(Likely) benign	1 lab	127de16187
6:33140155 COL11A2 C>T	6	33140155	33140155	C	T	COL11A2	c.2899G>A	NM_080680.3	NP_542411.2:p.(Gly967Ser)	NC_000006.11:g.33140155C>T	VUS	1 lab	127dff8736
14:92471159 TRIP11 A>C	14	92471159	92471159	A	C	TRIP11	c.3161T>G	NM_004239.4	NP_004230.2:p.(Val1054Gly)	NC_000014.8:g.92471159A>C	VUS	1 lab	127e44ee24
10:105179448 PDCD11 G>A	10	105179448	105179448	G	A	PDCD11	c.2260G>A	NM_014976.2	NP_055791.1:p.(Gly754Arg)	NC_000010.10:g.105179448G>A	VUS	1 lab	127f03ff7e
19:49657603 HRC G>A	19	49657603	49657603	G	A	HRC	c.892C>T	NM_002152.3	NP_002143.1:p.(Arg298Ter)	NC_000019.9:g.49657603G>A	VUS	1 lab	1281ed65db
9:131339225 SPTAN1 C>T	9	131339225	131339225	C	T	SPTAN1	c.775C>T	NM_001130438.3	NP_001123910.1:p.(Arg259Cys)	NC_000009.11:g.131339225C>T	(Likely) benign	1 lab	1281f0aed7
12:49691150 PRPH T>C	12	49691150	49691150	T	C	PRPH	c.1007T>C	NM_006262.4	NP_006253.2:p.(Leu336Pro)	NC_000012.11:g.49691150T>C	VUS	1 lab	1ab406abb7
6:90368355 MDN1 G>A	6	90368355	90368355	G	A	MDN1	c.14995C>T	NM_014611.3	NP_055426.1:p.(Pro4999Ser)	NC_000006.11:g.90368355G>A	(Likely) benign	1 lab	1283ca83ba
11:1466977 BRSK2 C>T	11	1466977	1466977	C	T	BRSK2	c.1076-10C>T	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1466977C>T	(Likely) benign	1 lab	1285c4680a
X:123156381 STAG2 G>A	X	123156381	123156381	G	A	STAG2	c.-97G>A	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123156381G>A	(Likely) benign	1 lab	1285dd8401
16:65005881 CDH11 C>T	16	65005881	65005881	C	T	CDH11	c.1477G>A	NM_001797.4	NP_001788.2:p.(Glu493Lys)	NC_000016.9:g.65005881C>T	VUS	1 lab	12860ec3dc
2:167108356 SCN9A C>A	2	167108356	167108356	C	A	SCN9A	c.3391G>T	NM_001365536.1	NP_001352465.1:p.(Asp1131Tyr)	NC_000002.11:g.167108356C>A	VUS	1 lab	128756869c
10:295449 ZMYND11 C>CATT	10	295449	295453	C	CATT	ZMYND11	c.1686+423_1686+425dup	NM_001370100.5	NP_001357029.1:p.?	NC_000010.10:g.295451_295453dup	(Likely) benign	1 lab	12878df685
1:10713970 CASZ1 G>A	1	10713970	10713970	G	A	CASZ1	c.2144C>T	NM_001079843.3	NP_001073312.1:p.(Thr715Met)	NC_000001.10:g.10713970G>A	VUS	1 lab	1289363ab0
11:124749477 ROBO3 G>A	11	124749477	124749477	G	A	ROBO3	c.3796+6G>A	NM_022370.4	NP_071765.2:p.?	NC_000011.9:g.124749477G>A	(Likely) benign	1 lab	12896edb0f
16:9943471 GRIN2A T>A	16	9943471	9943471	T	A	GRIN2A	c.1328+142A>T	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.9943471T>A	(Likely) benign	1 lab	ff79d84cd1
19:5778644 CATSPERD C>T	19	5778644	5778644	C	T	CATSPERD	c.2354C>T	NM_152784.4	NP_689997.3:p.(Pro785Leu)	NC_000019.9:g.5778644C>T	(Likely) benign	1 lab	128b019ace
19:56160776 CCDC106 C>T	19	56160776	56160776	C	T	CCDC106	c.139C>T	NM_001370470.1	NP_001357399.1:p.(Pro47Ser)	NC_000019.9:g.56160776C>T	(Likely) benign	1 lab	128bd48bd2
11:108017981 ACAT1 GCTTT>G	11	108017981	108017988	GCTTT	G	ACAT1	c.1164-12_1164-9del	NM_000019.4	NP_000010.1:p.?	NC_000011.9:g.108017985_108017988del	VUS	1 lab	128c2dc447
6:107955877 SOBP C>G	6	107955877	107955877	C	G	SOBP	c.1829C>G	NM_018013.4	NP_060483.3:p.(Pro610Arg)	NC_000006.11:g.107955877C>G	(Likely) benign	1 lab	128e6b52e7
9:139401399 NOTCH1 C>T	9	139401399	139401399	C	T	NOTCH1	c.3670G>A	NM_017617.5	NP_060087.3:p.(Asp1224Asn)	NC_000009.11:g.139401399C>T	VUS	1 lab	128f4bd205
16:1270329 CACNA1H C>T	16	1270329	1270329	C	T	CACNA1H	c.6397C>T	NM_021098.3	NP_066921.2:p.(Arg2133Cys)	NC_000016.9:g.1270329C>T	VUS	1 lab	2e5ebfa0ff
11:5269584 HBG1 T>A	11	5269584	5269584	T	A	HBG1	c.*5A>T	NM_000559.3	NP_000550.2:p.?	NC_000011.9:g.5269584T>A	(Likely) benign	1 lab	1a52d3d6df
7:6038898 PMS2 G>A	7	6038898	6038898	G	A	PMS2	c.546C>T	NM_000535.7	NP_000526.2:p.(Ala182=)	NC_000007.13:g.6038898G>A	VUS	1 lab	12919cfc37
13:80911822 SPRY2 T>C	13	80911822	80911822	T	C	SPRY2	c.19A>G	NM_005842.4	NP_005833.1:p.(Ser7Gly)	NC_000013.10:g.80911822T>C	(Likely) benign	1 lab	1292166986
16:1504430 CLCN7 T>C	16	1504430	1504430	T	C	CLCN7	c.1135A>G	NM_001287.6	NP_001278.1:p.(Ile379Val)	NC_000016.9:g.1504430T>C	VUS	1 lab	1292c29e0c
17:80050880 FASN C>T	17	80050880	80050880	C	T	FASN	c.671G>A	NM_004104.5	NP_004095.4:p.(Arg224His)	NC_000017.10:g.80050880C>T	VUS	1 lab	1292e237aa
2:179615739 TTN A>C	2	179615739	179615739	A	C	TTN	c.11311+2112T>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179615739A>C	VUS	1 lab	1292f394f7
16:1505203 CLCN7 T>C	16	1505203	1505203	T	C	CLCN7	c.1030A>G	NM_001287.6	NP_001278.1:p.(Ile344Val)	NC_000016.9:g.1505203T>C	VUS	1 lab	129457de4a
15:89415269 ACAN G>T	15	89415269	89415269	G	T	ACAN	c.7255G>T	NM_001369268.1	NP_001356197.1:p.(Asp2419Tyr)	NC_000015.9:g.89415269G>T	(Likely) pathogenic	1 lab	1296a55a80
14:75513878 MLH3 T>C	14	75513878	75513878	T	C	MLH3	c.2481A>G	NM_001040108.2	NP_001035197.1:p.(Ser827=)	NC_000014.8:g.75513878T>C	(Likely) benign	1 lab	129856c796
9:139090676 LHX3 G>A	9	139090676	139090676	G	A	LHX3	c.607-10C>T	NM_178138.6	NP_835258.1:p.?	NC_000009.11:g.139090676G>A	(Likely) benign	1 lab	1298c6451e
2:166872192 SCN1A T>C	2	166872192	166872192	T	C	SCN1A	c.3475A>G	NM_001165963.4	NP_001159435.1:p.(Ile1159Val)	NC_000002.11:g.166872192T>C	VUS	1 lab	1299bab951
3:135969325 PCCB C>A	3	135969325	135969325	C	A	PCCB	c.108C>A	NM_000532.5	NP_000523.2:p.(Asn36Lys)	NC_000003.11:g.135969325C>A	VUS	1 lab	129a2c9b20
4:1801055 FGFR3 C>T	4	1801055	1801055	C	T	FGFR3	c.184C>T	NM_000142.5	NP_000133.1:p.(Pro62Ser)	NC_000004.11:g.1801055C>T	(Likely) benign	1 lab	129a4405d8
1:22182325 HSPG2 G>A	1	22182325	22182325	G	A	HSPG2	c.5656C>T	NM_005529.7	NP_005520.4:p.(Arg1886Cys)	NC_000001.10:g.22182325G>A	VUS	1 lab	129aa1714a
12:48375888 COL2A1 A>C	12	48375888	48375888	A	C	COL2A1	c.2355+2T>G	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48375888A>C	(Likely) pathogenic	1 lab	1a55a288ef
3:93598021 PROS1 A>C	3	93598021	93598021	A	C	PROS1	c.1630T>G	NM_000313.4	NP_000304.2:p.(Ser544Ala)	NC_000003.11:g.93598021A>C	(Likely) benign	1 lab	129d2e26ba
18:56008295 NEDD4L C>T	18	56008295	56008295	C	T	NEDD4L	c.1151C>T	NM_001144967.3	NP_001138439.1:p.(Thr384Met)	NC_000018.9:g.56008295C>T	VUS	1 lab	12a0df456e
2:238243429 COL6A3 G>A	2	238243429	238243429	G	A	COL6A3	c.9069C>T	NM_004369.4	NP_004360.2:p.(Thr3023=)	NC_000002.11:g.238243429G>A	(Likely) benign	1 lab	12a1eebf39
11:68183951 LRP5 G>A	11	68183951	68183951	G	A	LRP5	c.2983G>A	NM_002335.4	NP_002326.2:p.(Asp995Asn)	NC_000011.9:g.68183951G>A	VUS	1 lab	12a59c7842
12:121426820 HNF1A C>T	12	121426820	121426820	C	T	HNF1A	c.511C>T	NM_000545.8	NP_000536.6:p.(Arg171Ter)	NC_000012.11:g.121426820C>T	(Likely) pathogenic	1 lab	12a8ea288a
1:8575308 RERE C>G	1	8575308	8575308	C	G	RERE	c.831-6574G>C	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8575308C>G	(Likely) benign	1 lab	12aa661d7c
13:33704030 STARD13 G>A	13	33704030	33704030	G	A	STARD13	c.784C>T	NM_178006.4	NP_821074.1:p.(Arg262Cys)	NC_000013.10:g.33704030G>A	(Likely) benign	1 lab	12abdd85e9
X:63406049 AMER1 C>A	X	63406049	63406049	C	A	AMER1	c.*3710G>T	NM_152424.4	NP_689637.3:p.?	NC_000023.10:g.63406049C>A	(Likely) benign	1 lab	12ac271f4a
14:100801283 WARS1 G>A	14	100801283	100801283	G	A	WARS1	c.1345C>T	NM_004184.4	NP_004175.2:p.(Arg449Cys)	NC_000014.8:g.100801283G>A	VUS	1 lab	12acb30589
2:204735608 CTLA4 C>A	2	204735608	204735608	C	A	CTLA4	c.409C>A	NM_005214.5	NP_005205.2:p.(Pro137Thr)	NC_000002.11:g.204735608C>A	(Likely) pathogenic	1 lab	12ad9f97cb
16:89842203 FANCA G>C	16	89842203	89842203	G	C	FANCA	c.1847C>G	NM_000135.4	NP_000126.2:p.(Ser616Cys)	NC_000016.9:g.89842203G>C	VUS	1 lab	12add0c3ba
17:3719535 NCBP3 G>A	17	3719535	3719535	G	A	NCBP3	c.1340C>T	NM_001114118.3	NP_001107590.1:p.(Ser447Leu)	NC_000017.10:g.3719535G>A	VUS	1 lab	12ae4ea9cb
12:56090168 ITGA7 T>C	12	56090168	56090168	T	C	ITGA7	c.1786A>G	NM_002206.3	NP_002197.2:p.(Ser596Gly)	NC_000012.11:g.56090168T>C	(Likely) benign	1 lab	12b06b7d1d
2:234737722 MROH2A A>AG	2	234737722	234737723	A	AG	MROH2A	c.4446+5dup	NM_001394639.1	NP_001381568.1:p.?	NC_000002.11:g.234737723dup	VUS	1 lab	12b373a613
11:66281911 BBS1 A>G	11	66281911	66281911	A	G	BBS1	c.194A>G	NM_024649.5	NP_078925.3:p.(Gln65Arg)	NC_000011.9:g.66281911A>G	VUS	1 lab	12b43c9434
19:7705236 STXBP2 C>CTG	19	7705236	7705240	C	CTG	STXBP2	c.247-345_247-344dup	NM_001272034.2	NP_001258963.1:p.?	NC_000019.9:g.7705239_7705240dup	(Likely) benign	1 lab	1ab56a45eb
10:75566073 NDST2 G>A	10	75566073	75566073	G	A	NDST2	c.1408C>T	NM_003635.4	NP_003626.1:p.(Arg470Cys)	NC_000010.10:g.75566073G>A	VUS	1 lab	12b8431e2e
12:106820957 POLR3B C>CT	12	106820957	106820972	C	CT	POLR3B	c.1102-3dup	NM_018082.6	NP_060552.4:p.?	NC_000012.11:g.106820972dup	(Likely) benign	1 lab	1a5841fd88
3:33166057 CRTAP A>G	3	33166057	33166057	A	G	CRTAP	c.779A>G	NM_006371.5	NP_006362.1:p.(Tyr260Cys)	NC_000003.11:g.33166057A>G	VUS	1 lab	12ee406289
X:100511163 DRP2 C>G	X	100511163	100511163	C	G	DRP2	c.2303C>G	NM_001939.3	NP_001930.2:p.(Ala768Gly)	NC_000023.10:g.100511163C>G	(Likely) benign	1 lab	12b9bc97cc
16:29818615 MAZ C>T	16	29818615	29818615	C	T	MAZ	c.509C>T	NM_002383.4	NP_002374.2:p.(Thr170Met)	NC_000016.9:g.29818615C>T	(Likely) benign	1 lab	12b9d15bbd
1:160259960 COPA A>G	1	160259960	160259960	A	G	COPA	c.3662T>C	NM_004371.4	NP_004362.2:p.(Leu1221Pro)	NC_000001.10:g.160259960A>G	VUS	1 lab	12ba856396
9:35547006 RUSC2 G>A	9	35547006	35547006	G	A	RUSC2	c.488G>A	NM_014806.5	NP_055621.2:p.(Arg163His)	NC_000009.11:g.35547006G>A	(Likely) benign	1 lab	12bae1fb49
2:16080806 MYCN C>T	2	16080806	16080806	C	T	MYCN	c.-177C>T	NM_005378.6	NP_005369.2:p.?	NC_000002.11:g.16080806C>T	(Likely) benign	1 lab	12bda9deb8
9:80040625 GNA14 T>C	9	80040625	80040625	T	C	GNA14	c.730A>G	NM_004297.4	NP_004288.1:p.(Met244Val)	NC_000009.11:g.80040625T>C	VUS	1 lab	12bdd47edd
10:27031413 PDSS1 CTTTTT>C	10	27031413	27031420	CTTTTT	C	PDSS1	c.1027-10_1027-6del	NM_014317.5	NP_055132.2:p.?	NC_000010.10:g.27031416_27031420del	VUS	1 lab	12be6c79a8
16:3779594 CREBBP C>T	16	3779594	3779594	C	T	CREBBP	c.5454G>A	NM_004380.3	NP_004371.2:p.(Val1818=)	NC_000016.9:g.3779594C>T	(Likely) benign	1 lab	12bf7fbc8f
1:155207983 GBA1 A>G	1	155207983	155207983	A	G	GBA1	c.703T>C	NM_000157.4	NP_000148.2:p.(Ser235Pro)	NC_000001.10:g.155207983A>G	(Likely) pathogenic	1 lab	12bf8518b3
11:77692614 INTS4 A>C	11	77692614	77692614	A	C	INTS4	c.255T>G	NM_033547.4	NP_291025.3:p.(Asp85Glu)	NC_000011.9:g.77692614A>C	VUS	1 lab	12bfa8ec69
12:88476956 CEP290 G>A	12	88476956	88476956	G	A	CEP290	c.4864C>T	NM_025114.4	NP_079390.3:p.(Arg1622Cys)	NC_000012.11:g.88476956G>A	VUS	1 lab	12bfc22da1
8:97157758 GDF6 A>G	8	97157758	97157758	A	G	GDF6	c.407-6T>C	NM_001001557.4	NP_001001557.1:p.?	NC_000008.10:g.97157758A>G	(Likely) benign	1 lab	12c14c3649
1:976875 AGRN C>G	1	976875	976875	C	G	AGRN	c.970C>G	NM_198576.4	NP_940978.2:p.(Leu324Val)	NC_000001.10:g.976875C>G	(Likely) benign	1 lab	12c1560f8a
15:89398452 ACAN AC>A	15	89398452	89398454	AC	A	ACAN	c.2638del	NM_001369268.1	NP_001356197.1:p.(Asp881ThrfsTer64)	NC_000015.9:g.89398454del	(Likely) pathogenic	1 lab	12c1c5b3d9
6:152674389 SYNE1 C>T	6	152674389	152674389	C	T	SYNE1	c.11253+9G>A	NM_182961.4	NP_892006.3:p.?	NC_000006.11:g.152674389C>T	(Likely) benign	1 lab	1ab570f044
3:128628248 ACAD9 T>G	3	128628248	128628248	T	G	ACAD9	c.1547T>G	NM_014049.5	NP_054768.2:p.(Leu516Arg)	NC_000003.11:g.128628248T>G	VUS	1 lab	12c5006c21
14:70245123 SLC10A1 C>T	14	70245123	70245123	C	T	SLC10A1	c.870G>A	NM_003049.4	NP_003040.1:p.(Met290Ile)	NC_000014.8:g.70245123C>T	VUS	1 lab	12c5bb34a1
16:1411960 GNPTG A>T	16	1411960	1411960	A	T	GNPTG	c.317+4A>T	NM_032520.5	NP_115909.1:p.?	NC_000016.9:g.1411960A>T	VUS	1 lab	12c605bb71
2:141597638 LRP1B C>T	2	141597638	141597638	C	T	LRP1B	c.5131G>A	NM_018557.3	NP_061027.2:p.(Asp1711Asn)	NC_000002.11:g.141597638C>T	VUS	1 lab	12c61232a0
X:3533846 PRKX T>A	X	3533846	3533846	T	A	PRKX	c.951+10A>T	NM_005044.5	NP_005035.1:p.?	NC_000023.10:g.3533846T>A	(Likely) benign	1 lab	12c65916c2
11:17483159 ABCC8 G>T	11	17483159	17483159	G	T	ABCC8	c.793C>A	NM_000352.6	NP_000343.2:p.(Arg265=)	NC_000011.9:g.17483159G>T	(Likely) benign	1 lab	12c858dbca
1:22150130 LDLRAD2 C>T	1	22150130	22150130	C	T	LDLRAD2	c.*1422C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22150130C>T	(Likely) benign	1 lab	12c9ec0f50
22:50639806 SELENOO G>GCGAGGC	22	50639806	50639826	G	GCGAGGC	SELENOO	c.356_361dup	NM_031454.2	NP_113642.1:p.(Glu119_Ala120dup)	NC_000022.10:g.50639821_50639826dup	VUS	1 lab	12cbae1b81
X:18962314 PHKA2 T>C	X	18962314	18962314	T	C	PHKA2	c.619-388A>G	NM_000292.3	NP_000283.1:p.?	NC_000023.10:g.18962314T>C	(Likely) benign	1 lab	12d197068e
10:79745731 POLR3A A>G	10	79745731	79745731	A	G	POLR3A	c.3001T>C	NM_007055.4	NP_008986.2:p.(Tyr1001His)	NC_000010.10:g.79745731A>G	VUS	1 lab	12d22cac17
19:48901858 GRIN2D G>C	19	48901858	48901858	G	C	GRIN2D	c.209G>C	NM_000836.4	NP_000827.2:p.(Gly70Ala)	NC_000019.9:g.48901858G>C	VUS	1 lab	12d50357dc
14:23855715 MYH6 G>T	14	23855715	23855715	G	T	MYH6	c.4768C>A	NM_002471.4	NP_002462.2:p.(Arg1590Ser)	NC_000014.8:g.23855715G>T	VUS	1 lab	12d9153366
X:65392273 HEPH A>G	X	65392273	65392273	A	G	HEPH	c.244A>G	NM_001367233.3	NP_001354162.2:p.(Lys82Glu)	NC_000023.10:g.65392273A>G	(Likely) benign	1 lab	12db39414d
15:89385085 ACAN C>T	15	89385085	89385085	C	T	ACAN	c.744C>T	NM_001369268.1	NP_001356197.1:p.(Ala248=)	NC_000015.9:g.89385085C>T	(Likely) benign	1 lab	12df8e0de9
1:225591025 LBR T>G	1	225591025	225591025	T	G	LBR	c.1828A>C	NM_002296.4	NP_002287.2:p.(Ile610Leu)	NC_000001.10:g.225591025T>G	VUS	1 lab	1a5998bf82
16:1613993 IFT140 C>T	16	1613993	1613993	C	T	IFT140	c.2067+5G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1613993C>T	VUS	1 lab	12e2c6116a
19:7584303 ZNF358 C>A	19	7584303	7584303	C	A	ZNF358	c.175C>A	NM_018083.5	NP_060553.4:p.(Pro59Thr)	NC_000019.9:g.7584303C>A	(Likely) benign	1 lab	12e377e2f2
17:56283825 MKS1 C>T	17	56283825	56283825	C	T	MKS1	c.1490+1G>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56283825C>T	(Likely) pathogenic	1 lab	12e48afbb5
19:40373954 FCGBP C>G	19	40373954	40373954	C	G	FCGBP	c.12124G>C	NM_003890.3	NP_003881.2:p.(Val4042Leu)	NC_000019.9:g.40373954C>G	VUS	1 lab	12e53515eb
13:111082783 COL4A2 G>C	13	111082783	111082783	G	C	COL4A2	c.585G>C	NM_001846.4	NP_001837.2:p.(Gln195His)	NC_000013.10:g.111082783G>C	VUS	1 lab	12e560ff2c
17:17698375 RAI1 C>T	17	17698375	17698375	C	T	RAI1	c.2113C>T	NM_030665.4	NP_109590.3:p.(Pro705Ser)	NC_000017.10:g.17698375C>T	(Likely) benign	1 lab	12e839a3e6
1:44685757 DMAP1 C>G	1	44685757	44685757	C	G	DMAP1	c.1120C>G	NM_019100.5	NP_061973.1:p.(Leu374Val)	NC_000001.10:g.44685757C>G	VUS	1 lab	12e842a1de
14:50734598 L2HGDH C>T	14	50734598	50734598	C	T	L2HGDH	c.937G>A	NM_024884.3	NP_079160.1:p.(Val313Ile)	NC_000014.8:g.50734598C>T	VUS	1 lab	12ea23f8c5
9:86588263 HNRNPK G>A	9	86588263	86588263	G	A	HNRNPK	c.454C>T	NM_002140.4	NP_002131.2:p.(His152Tyr)	NC_000009.11:g.86588263G>A	VUS	1 lab	1ac418e433
3:49569325 DAG1 C>T	3	49569325	49569325	C	T	DAG1	c.1381C>T	NM_004393.6	NP_004384.5:p.(Arg461Trp)	NC_000003.11:g.49569325C>T	VUS	1 lab	12ed9f171f
17:46628223 HOXB3 C>A	17	46628223	46628223	C	A	HOXB3	c.769G>T	NM_001384749.1	NP_001371678.1:p.(Gly257Trp)	NC_000017.10:g.46628223C>A	VUS	1 lab	12eda843b4
5:60839308 ZSWIM6 C>G	5	60839308	60839308	C	G	ZSWIM6	c.2812C>G	NM_020928.2	NP_065979.1:p.(Gln938Glu)	NC_000005.9:g.60839308C>G	(Likely) benign	1 lab	12edda0b67
2:73470241 CCT7 G>T	2	73470241	73470241	G	T	CCT7	c.377G>T	NM_006429.4	NP_006420.1:p.(Arg126Leu)	NC_000002.11:g.73470241G>T	VUS	1 lab	12edeeba4f
6:10410465 TFAP2A T>C	6	10410465	10410465	T	C	TFAP2A	c.155A>G	NM_001372066.1	NP_001358995.1:p.(Asn52Ser)	NC_000006.11:g.10410465T>C	(Likely) benign	1 lab	12eeb60798
2:223158478 PAX3 T>G	2	223158478	223158478	T	G	PAX3	c.586+408A>C	NM_181458.4	NP_852123.1:p.?	NC_000002.11:g.223158478T>G	(Likely) benign	1 lab	12ef2f4325
7:6026987 PMS2 G>GATCTCA	7	6026987	6026988	G	GATCTCA	PMS2	c.1408_1409insTGAGAT	NM_000535.7	NP_000526.2:p.(Pro470delinsLeuArgSer)	NC_000007.13:g.6026987_6026988insATCTCA	VUS	1 lab	12f0fe729b
10:79581282 DLG5 T>C	10	79581282	79581282	T	C	DLG5	c.2960A>G	NM_004747.4	NP_004738.3:p.(Lys987Arg)	NC_000010.10:g.79581282T>C	(Likely) benign	1 lab	12f3ec2286
1:120469127 NOTCH2 G>C	1	120469127	120469127	G	C	NOTCH2	c.4000C>G	NM_024408.4	NP_077719.2:p.(Pro1334Ala)	NC_000001.10:g.120469127G>C	VUS	1 lab	12f3ff4508
X:17394211 NHS T>TCGG	X	17394211	17394230	T	TCGG	NHS	c.348_350dup	NM_001291867.2	NP_001278796.1:p.(Ala117dup)	NC_000023.10:g.17394228_17394230dup	(Likely) benign	1 lab	12f4488c73
11:6412878 SMPD1 G>C	11	6412878	6412878	G	C	SMPD1	c.583G>C	NM_000543.5	NP_000534.3:p.(Ala195Pro)	NC_000011.9:g.6412878G>C	(Likely) benign	1 lab	12f904d0be
19:7267784 INSR T>C	19	7267784	7267784	T	C	INSR	c.224A>G	NM_000208.4	NP_000199.2:p.(Asp75Gly)	NC_000019.9:g.7267784T>C	(Likely) benign	1 lab	12f908bee8
15:33952485 RYR3 A>G	15	33952485	33952485	A	G	RYR3	c.4483A>G	NM_001036.6	NP_001027.3:p.(Ile1495Val)	NC_000015.9:g.33952485A>G	VUS	1 lab	12f96b021b
22:42611211 TCF20 T>C	22	42611211	42611211	T	C	TCF20	c.101A>G	NM_001378418.1	NP_001365347.1:p.(Gln34Arg)	NC_000022.10:g.42611211T>C	VUS	1 lab	12f97ce2d6
18:21113327 NPC1 CTGAG>C	18	21113327	21113332	CTGAG	C	NPC1	c.3742_3745del	NM_000271.5	NP_000262.2:p.(Leu1248ValfsTer3)	NC_000018.9:g.21113329_21113332del	(Likely) pathogenic	1 lab	12fa5e1ab2
16:774463 CCDC78 C>T	16	774463	774463	C	T	CCDC78	c.812G>A	NM_001378030.1	NP_001364959.1:p.(Arg271Gln)	NC_000016.9:g.774463C>T	(Likely) benign	1 lab	12fb67a7c9
2:179312316 PRKRA G>GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACATCAGATCTTTC	2	179312316	179312317	G	GTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACATCAGATCTTTC	PRKRA	c.236-4_236-3insGAAAGATCTGATGTGCAAATACACGTGCCCACTTTCACCTTCAGAGTAACCGTTGGTGACATAACCTGCA	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179312316_179312317insTGCAGGTTATGTCACCAACGGTTACTCTGAAGGTGAAAGTGGGCACGTGTATTTGCACATCAGATCTTTC	(Likely) benign	1 lab	12fc1d1f2e
10:73450264 CDH23 G>A	10	73450264	73450264	G	A	CDH23	c.2099G>A	NM_022124.6	NP_071407.4:p.(Arg700His)	NC_000010.10:g.73450264G>A	VUS	1 lab	12fdbf959a
1:226026573 EPHX1 T>C	1	226026573	226026573	T	C	EPHX1	c.583T>C	NM_001136018.4	NP_001129490.1:p.(Ser195Pro)	NC_000001.10:g.226026573T>C	(Likely) benign	1 lab	12fde427a8
1:214816371 CENPF G>A	1	214816371	214816371	G	A	CENPF	c.4690G>A	NM_016343.4	NP_057427.3:p.(Glu1564Lys)	NC_000001.10:g.214816371G>A	(Likely) benign	1 lab	12fe5f93a3
7:64275351 ZNF138 G>A	7	64275351	64275351	G	A	ZNF138	c.59G>A	NM_001271639.2	NP_001258568.2:p.(Cys20Tyr)	NC_000007.13:g.64275351G>A	VUS	1 lab	130056a88a
3:64672444 ADAMTS9 C>G	3	64672444	64672444	C	G	ADAMTS9	c.316G>C	NM_182920.2	NP_891550.1:p.(Gly106Arg)	NC_000003.11:g.64672444C>G	VUS	1 lab	1300c37131
2:179518150 TTN G>A	2	179518150	179518150	G	A	TTN	c.38707+4C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179518150G>A	(Likely) benign	1 lab	13046a42db
19:1106594 GPX4 C>CCGAGCCCCTGCCCACG	19	1106594	1106611	C	CCGAGCCCCTGCCCACG	GPX4	c.*25_*40dup	NM_002085.5	NP_002076.2:p.?	NC_000019.9:g.1106596_1106611dup	VUS	1 lab	13048b5e2a
6:121560272 TBC1D32 T>C	6	121560272	121560272	T	C	TBC1D32	c.2308A>G	NM_152730.6	NP_689943.4:p.(Arg770Gly)	NC_000006.11:g.121560272T>C	(Likely) benign	1 lab	1305e64ed1
X:73961135 NEXMIF C>T	X	73961135	73961135	C	T	NEXMIF	c.3257G>A	NM_001008537.3	NP_001008537.1:p.(Cys1086Tyr)	NC_000023.10:g.73961135C>T	VUS	1 lab	1a59e6de96
22:41574892 EP300 C>G	22	41574892	41574892	C	G	EP300	c.7177C>G	NM_001429.4	NP_001420.2:p.(Leu2393Val)	NC_000022.10:g.41574892C>G	(Likely) benign	1 lab	1309f7f14d
1:47834248 CMPK1 G>T	1	47834248	47834248	G	T	CMPK1	c.279G>T	NM_016308.3	NP_057392.1:p.(Lys93Asn)	NC_000001.10:g.47834248G>T	VUS	1 lab	130a4a9ee1
8:116426412 TRPS1 T>G	8	116426412	116426412	T	G	TRPS1	c.3724A>C	NM_014112.5	NP_054831.2:p.(Met1242Leu)	NC_000008.10:g.116426412T>G	(Likely) benign	1 lab	130a61dfae
11:2608803 KCNQ1 G>C	11	2608803	2608803	G	C	KCNQ1	c.1132G>C	NM_000218.3	NP_000209.2:p.(Ala378Pro)	NC_000011.9:g.2608803G>C	VUS	1 lab	130b809b0e
6:33140362 COL11A2 G>A	6	33140362	33140362	G	A	COL11A2	c.2843C>T	NM_080680.3	NP_542411.2:p.(Pro948Leu)	NC_000006.11:g.33140362G>A	VUS	1 lab	130b95f9c3
1:22180818 HSPG2 G>A	1	22180818	22180818	G	A	HSPG2	c.6307C>T	NM_005529.7	NP_005520.4:p.(Arg2103Trp)	NC_000001.10:g.22180818G>A	VUS	1 lab	130dad47c1
14:58669606 ACTR10 T>G	14	58669606	58669606	T	G	ACTR10	c.111T>G	NM_018477.3	NP_060947.1:p.(Cys37Trp)	NC_000014.8:g.58669606T>G	(Likely) benign	1 lab	130e945f90
4:119259362 PRSS12 C>T	4	119259362	119259362	C	T	PRSS12	c.610G>A	NM_003619.4	NP_003610.2:p.(Ala204Thr)	NC_000004.11:g.119259362C>T	VUS	1 lab	13100aee02
11:17496541 ABCC8 T>C	11	17496541	17496541	T	C	ABCC8	c.182A>G	NM_000352.6	NP_000343.2:p.(His61Arg)	NC_000011.9:g.17496541T>C	VUS	1 lab	131041264d
X:41470966 CASK T>A	X	41470966	41470966	T	A	CASK	c.1034-1688A>T	NM_001367721.1	NP_001354650.1:p.?	NC_000023.10:g.41470966T>A	(Likely) benign	1 lab	131053c6af
4:76836110 NAAA C>T	4	76836110	76836110	C	T	NAAA	c.1027G>A	NM_014435.4	NP_055250.2:p.(Ala343Thr)	NC_000004.11:g.76836110C>T	(Likely) benign	1 lab	13117036b6
11:75136618 KLHL35 C>T	11	75136618	75136618	C	T	KLHL35	c.1194G>A	NM_001039548.3	NP_001034637.2:p.(Ala398=)	NC_000011.9:g.75136618C>T	VUS	1 lab	131392dc62
19:38931451 RYR1 G>A	19	38931451	38931451	G	A	RYR1	c.112G>A	NM_000540.3	NP_000531.2:p.(Ala38Thr)	NC_000019.9:g.38931451G>A	VUS	1 lab	13155a5302
17:10596166 SCO1 C>T	17	10596166	10596166	C	T	SCO1	c.477G>A	NM_004589.4	NP_004580.1:p.(Trp159Ter)	NC_000017.10:g.10596166C>T	(Likely) pathogenic	1 lab	1ac65b20fa
15:54527242 UNC13C T>C	15	54527242	54527242	T	C	UNC13C	c.3086T>C	NM_001080534.3	NP_001074003.1:p.(Leu1029Pro)	NC_000015.9:g.54527242T>C	VUS	1 lab	1317a5026a
2:233414179 TIGD1 C>G	2	233414179	233414179	C	G	TIGD1	c.414G>C	NM_145702.4	NP_663748.1:p.(Arg138Ser)	NC_000002.11:g.233414179C>G	(Likely) benign	1 lab	131a457232
10:97380807 ALDH18A1 C>T	10	97380807	97380807	C	T	ALDH18A1	c.1448G>A	NM_002860.4	NP_002851.2:p.(Arg483His)	NC_000010.10:g.97380807C>T	VUS	1 lab	131a6cd344
9:79259672 PRUNE2 C>A	9	79259672	79259672	C	A	PRUNE2	c.8711G>T	NM_015225.3	NP_056040.2:p.(Arg2904Ile)	NC_000009.11:g.79259672C>A	(Likely) benign	1 lab	131b7c9393
1:8419849 RERE C>T	1	8419849	8419849	C	T	RERE	c.3593G>A	NM_001042681.2	NP_001036146.1:p.(Arg1198Gln)	NC_000001.10:g.8419849C>T	(Likely) benign	1 lab	131c4acc5a
1:64120143 PGM1 G>T	1	64120143	64120143	G	T	PGM1	c.1599+6G>T	NM_002633.3	NP_002624.2:p.?	NC_000001.10:g.64120143G>T	(Likely) benign	1 lab	131de839ac
1:43892035 SZT2 G>T	1	43892035	43892035	G	T	SZT2	c.3044-4G>T	NM_001365999.1	NP_001352928.1:p.?	NC_000001.10:g.43892035G>T	(Likely) benign	1 lab	131e677913
3:27763176 EOMES C>G	3	27763176	27763176	C	G	EOMES	c.610G>C	NM_001278182.2	NP_001265111.1:p.(Gly204Arg)	NC_000003.11:g.27763176C>G	VUS	1 lab	131ea18ece
7:75610362 POR G>A	7	75610362	75610362	G	A	POR	c.517-4G>A	NM_000941.3	NP_000932.3:p.?	NC_000007.13:g.75610362G>A	(Likely) benign	1 lab	131f398de1
5:176072256 EIF4E1B G>C	5	176072256	176072256	G	C	EIF4E1B	c.474+12G>C	NM_001099408.2	NP_001092878.1:p.?	NC_000005.9:g.176072256G>C	(Likely) benign	1 lab	1ac827cedc
17:74134062 FOXJ1 C>T	17	74134062	74134062	C	T	FOXJ1	c.638G>A	NM_001454.4	NP_001445.2:p.(Arg213Gln)	NC_000017.10:g.74134062C>T	VUS	1 lab	131ff6f5fe
2:179457330 TTN C>T	2	179457330	179457330	C	T	TTN	c.59402G>A	NM_001267550.2	NP_001254479.2:p.(Gly19801Asp)	NC_000002.11:g.179457330C>T	(Likely) benign	1 lab	13205663d1
6:51524054 PKHD1 T>C	6	51524054	51524054	T	C	PKHD1	c.10870A>G	NM_138694.4	NP_619639.3:p.(Thr3624Ala)	NC_000006.11:g.51524054T>C	(Likely) benign	1 lab	13217bee22
17:7360008 CHRNB1 C>T	17	7360008	7360008	C	T	CHRNB1	c.1472C>T	NM_000747.3	NP_000738.2:p.(Thr491Met)	NC_000017.10:g.7360008C>T	VUS	1 lab	1321c98ac7
13:39425958 FREM2 A>G	13	39425958	39425958	A	G	FREM2	c.6878A>G	NM_207361.6	NP_997244.4:p.(Lys2293Arg)	NC_000013.10:g.39425958A>G	VUS	1 lab	13220cf598
X:49126409 PPP1R3F C>A	X	49126409	49126409	C	A	PPP1R3F	c.77C>A	NM_033215.5	NP_149992.3:p.(Thr26Asn)	NC_000023.10:g.49126409C>A	(Likely) benign	1 lab	132375165f
4:129028518 LARP1B C>T	4	129028518	129028518	C	T	LARP1B	c.988+50C>T	NM_018078.4	NP_060548.2:p.?	NC_000004.11:g.129028518C>T	VUS	1 lab	1323d6f19f
Y:4968620 PCDH11Y G>A	Y	4968620	4968620	G	A	PCDH11Y	c.2725G>A	NM_001395587.1	NP_001382516.1:p.(Asp909Asn)	NC_000024.9:g.4968620G>A	VUS	1 lab	132499bbea
2:179645883 TTN C>A	2	179645883	179645883	C	A	TTN	c.3488G>T	NM_001267550.2	NP_001254479.2:p.(Gly1163Val)	NC_000002.11:g.179645883C>A	VUS	1 lab	13269591b9
9:124065264 GSN G>A	9	124065264	124065264	G	A	GSN	c.272G>A	NM_198252.3	NP_937895.1:p.(Arg91Gln)	NC_000009.11:g.124065264G>A	(Likely) benign	1 lab	132712962d
1:225586737 DNAH14 A>AT	1	225586737	225586751	A	AT	DNAH14	c.13639-5dup	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225586751dup	(Likely) benign	1 lab	13288e3882
1:227173033 COQ8A G>A	1	227173033	227173033	G	A	COQ8A	c.1651G>A	NM_020247.5	NP_064632.2:p.(Glu551Lys)	NC_000001.10:g.227173033G>A	(Likely) pathogenic	1 lab	1329f92fbc
3:12942501 IQSEC1 C>T	3	12942501	12942501	C	T	IQSEC1	c.3326G>A	NM_001134382.3	NP_001127854.1:p.(Gly1109Asp)	NC_000003.11:g.12942501C>T	(Likely) benign	1 lab	132a812ace
1:167887587 MPC2 C>T	1	167887587	167887587	C	T	MPC2	c.358G>A	NM_001143674.4	NP_001137146.1:p.(Glu120Lys)	NC_000001.10:g.167887587C>T	VUS	1 lab	132acf33e2
9:136295170 ADAMTS13 C>T	9	136295170	136295170	C	T	ADAMTS13	c.936C>T	NM_139025.4	NP_620594.1:p.(Arg312=)	NC_000009.11:g.136295170C>T	(Likely) benign	1 lab	1ac9a2bea1
X:41206169 DDX3X ATCT>A	X	41206169	41206176	ATCT	A	DDX3X	c.1678_1680del	NM_001356.5	NP_001347.3:p.(Leu560del)	NC_000023.10:g.41206174_41206176del	VUS	1 lab	132c9627d0
10:123846535 TACC2 G>A	10	123846535	123846535	G	A	TACC2	c.4520G>A	NM_206862.4	NP_996744.4:p.(Arg1507Gln)	NC_000010.10:g.123846535G>A	(Likely) benign	1 lab	132cf4acb6
2:152468749 NEB T>C	2	152468749	152468749	T	C	NEB	c.11756A>G	NM_001164508.2	NP_001157980.2:p.(Asp3919Gly)	NC_000002.11:g.152468749T>C	VUS	1 lab	132edb237f
5:58270619 PDE4D G>C	5	58270619	58270619	G	C	PDE4D	c.2302C>G	NM_001104631.2	NP_001098101.1:p.(Leu768Val)	NC_000005.9:g.58270619G>C	(Likely) benign	1 lab	132f22825a
X:9863933 SHROOM2 G>A	X	9863933	9863933	G	A	SHROOM2	c.1985G>A	NM_001649.4	NP_001640.1:p.(Arg662His)	NC_000023.10:g.9863933G>A	VUS	1 lab	132f90206c
12:51126246 DIP2B A>G	12	51126246	51126246	A	G	DIP2B	c.3908A>G	NM_173602.3	NP_775873.2:p.(Lys1303Arg)	NC_000012.11:g.51126246A>G	(Likely) benign	1 lab	132fc8bbd7
7:117307050 CFTR C>T	7	117307050	117307050	C	T	CFTR	c.4331C>T	NM_000492.4	NP_000483.3:p.(Ser1444Phe)	NC_000007.13:g.117307050C>T	VUS	1 lab	132fdd42b9
12:102072022 MYBPC1 A>C	12	102072022	102072022	A	C	MYBPC1	c.3246+6A>C	NM_002465.4	NP_002456.2:p.?	NC_000012.11:g.102072022A>C	(Likely) benign	1 lab	132ff6f587
1:120459290 NOTCH2 G>A	1	120459290	120459290	G	A	NOTCH2	c.6055C>T	NM_024408.4	NP_077719.2:p.(Arg2019Trp)	NC_000001.10:g.120459290G>A	VUS	1 lab	1330622bc0
17:65924636 BPTF C>T	17	65924636	65924636	C	T	BPTF	c.5917C>T	NM_182641.4	NP_872579.2:p.(Pro1973Ser)	NC_000017.10:g.65924636C>T	VUS	1 lab	13312829bb
16:30749820 SRCAP C>T	16	30749820	30749820	C	T	SRCAP	c.8459C>T	NM_006662.3	NP_006653.2:p.(Pro2820Leu)	NC_000016.9:g.30749820C>T	(Likely) benign	1 lab	13321639d8
2:152527574 NEB A>G	2	152527574	152527574	A	G	NEB	c.4469T>C	NM_001164508.2	NP_001157980.2:p.(Met1490Thr)	NC_000002.11:g.152527574A>G	(Likely) benign	1 lab	13341fbfca
3:71101765 FOXP1 C>A	3	71101765	71101765	C	A	FOXP1	c.433G>T	NM_001349338.3	NP_001336267.1:p.(Glu145Ter)	NC_000003.11:g.71101765C>A	VUS	1 lab	1336e5efb2
18:55336626 ATP8B1 A>G	18	55336626	55336626	A	G	ATP8B1	c.2021T>C	NM_001374385.1	NP_001361314.1:p.(Met674Thr)	NC_000018.9:g.55336626A>G	(Likely) benign	1 lab	1339cae29c
19:18964066 UPF1 C>A	19	18964066	18964066	C	A	UPF1	c.1063C>A	NM_002911.4	NP_002902.2:p.(Arg355=)	NC_000019.9:g.18964066C>A	(Likely) benign	1 lab	133ba260b8
16:2142116 PKD1 G>T	16	2142116	2142116	G	T	PKD1	c.11343C>A	NM_001009944.3	NP_001009944.3:p.(Tyr3781Ter)	NC_000016.9:g.2142116G>T	(Likely) pathogenic	1 lab	133e57de86
4:2965744 GRK4 C>T	4	2965744	2965744	C	T	GRK4	c.-54C>T	NM_182982.3	NP_892027.2:p.?	NC_000004.11:g.2965744C>T	VUS	1 lab	133f3ca067
7:139636106 TBXAS1 G>A	7	139636106	139636106	G	A	TBXAS1	c.450G>A	NM_001061.7	NP_001052.3:p.(Glu150=)	NC_000007.13:g.139636106G>A	(Likely) benign	1 lab	133f8ed7a3
8:41571745 ANK1 C>T	8	41571745	41571745	C	T	ANK1	c.1729G>A	NM_000037.4	NP_000028.3:p.(Val577Ile)	NC_000008.10:g.41571745C>T	VUS	1 lab	1341ba9ff1
19:15302978 NOTCH3 C>T	19	15302978	15302978	C	T	NOTCH3	c.472G>A	NM_000435.3	NP_000426.2:p.(Asp158Asn)	NC_000019.9:g.15302978C>T	VUS	1 lab	1341d45935
10:12159763 DHTKD1 T>C	10	12159763	12159763	T	C	DHTKD1	c.2402+9T>C	NM_018706.7	NP_061176.4:p.?	NC_000010.10:g.12159763T>C	(Likely) benign	1 lab	1342c5986f
22:30866053 SEC14L3 G>A	22	30866053	30866053	G	A	SEC14L3	c.187C>T	NM_174975.5	NP_777635.1:p.(Arg63Trp)	NC_000022.10:g.30866053G>A	(Likely) benign	1 lab	1342dde01e
17:4802829 CHRNE G>A	17	4802829	4802829	G	A	CHRNE	c.966C>T	NM_000080.4	NP_000071.1:p.(Cys322=)	NC_000017.10:g.4802829G>A	(Likely) benign	1 lab	134442223e
7:143018813 CLCN1 G>T	7	143018813	143018813	G	T	CLCN1	c.568G>T	NM_000083.3	NP_000074.3:p.(Gly190Ter)	NC_000007.13:g.143018813G>T	(Likely) pathogenic	1 lab	1346df8006
11:70002011 ANO1 C>G	11	70002011	70002011	C	G	ANO1	c.1426-6C>G	NM_018043.7	NP_060513.5:p.?	NC_000011.9:g.70002011C>G	(Likely) benign	1 lab	1348666e83
19:13319767 CACNA1A G>A	19	13319767	13319767	G	A	CACNA1A	c.6583C>T	NM_001127222.2	NP_001120694.1:p.(Arg2195Trp)	NC_000019.9:g.13319767G>A	(Likely) benign	1 lab	13486ef100
19:17767083 UNC13A G>A	19	17767083	17767083	G	A	UNC13A	c.892C>T	NM_001080421.3	NP_001073890.2:p.(Arg298Trp)	NC_000019.9:g.17767083G>A	VUS	1 lab	1349439801
12:7045894 ATN1 G>GCAGCAGCAA	12	7045894	7045903	G	GCAGCAGCAA	ATN1	c.1472_1473insACAGCAGCA	NM_001940.4	NP_001931.2:p.(Gln500_Gln502dup)	NC_000012.11:g.7045902_7045903insACAGCAGCA	VUS	1 lab	134a3dcf04
X:108718687 GUCY2F A>G	X	108718687	108718687	A	G	GUCY2F	c.479T>C	NM_001522.3	NP_001513.2:p.(Ile160Thr)	NC_000023.10:g.108718687A>G	(Likely) benign	1 lab	134c1f4d30
9:131456185 SET T>C	9	131456185	131456185	T	C	SET	c.674T>C	NM_003011.4	NP_003002.2:p.(Met225Thr)	NC_000009.11:g.131456185T>C	VUS	1 lab	134c72771b
7:44268990 CAMK2B G>GGGCT	7	44268990	44268997	G	GGGCT	CAMK2B	c.1332_1335dup	NM_001220.5	NP_001211.3:p.(Pro446SerfsTer8)	NC_000007.13:g.44268994_44268997dup	VUS	1 lab	134d0a744a
3:43122539 POMGNT2 A>G	3	43122539	43122539	A	G	POMGNT2	c.385T>C	NM_032806.6	NP_116195.2:p.(Tyr129His)	NC_000003.11:g.43122539A>G	VUS	1 lab	134e11c8e4
1:22835669 ZBTB40 G>C	1	22835669	22835669	G	C	ZBTB40	c.1776G>C	NM_014870.4	NP_055685.3:p.(Lys592Asn)	NC_000001.10:g.22835669G>C	(Likely) benign	1 lab	134e7d9bcf
X:47424529 ARAF A>G	X	47424529	47424529	A	G	ARAF	c.449A>G	NM_001654.5	NP_001645.1:p.(Asn150Ser)	NC_000023.10:g.47424529A>G	(Likely) benign	1 lab	134fa949b2
1:204380515 PPP1R15B G>C	1	204380515	204380515	G	C	PPP1R15B	c.25C>G	NM_032833.5	NP_116222.4:p.(Arg9Gly)	NC_000001.10:g.204380515G>C	VUS	1 lab	13515164d6
19:15272535 NOTCH3 C>G	19	15272535	15272535	C	G	NOTCH3	c.5914-10G>C	NM_000435.3	NP_000426.2:p.?	NC_000019.9:g.15272535C>G	(Likely) benign	1 lab	13522ae2b6
20:4680008 PRNP C>T	20	4680008	4680008	C	T	PRNP	c.142C>T	NM_000311.5	NP_000302.1:p.(Arg48Cys)	NC_000020.10:g.4680008C>T	VUS	1 lab	1352d2dada
X:114426292 RBMXL3 G>A	X	114426292	114426292	G	A	RBMXL3	c.2288G>A	NM_001145346.2	NP_001138818.1:p.(Gly763Asp)	NC_000023.10:g.114426292G>A	(Likely) benign	1 lab	1353799353
6:101109761 ASCC3 T>C	6	101109761	101109761	T	C	ASCC3	c.2624A>G	NM_006828.4	NP_006819.2:p.(His875Arg)	NC_000006.11:g.101109761T>C	VUS	1 lab	13553f70d7
1:205884087 SLC26A9 T>C	1	205884087	205884087	T	C	SLC26A9	c.*398A>G	NM_052934.4	NP_443166.1:p.?	NC_000001.10:g.205884087T>C	VUS	1 lab	135601935c
X:30327365 NR0B1 C>G	X	30327365	30327365	C	G	NR0B1	c.116G>C	NM_000475.5	NP_000466.2:p.(Trp39Ser)	NC_000023.10:g.30327365C>G	VUS	1 lab	135659c647
1:2452296 PANK4 C>T	1	2452296	2452296	C	T	PANK4	c.472G>A	NM_018216.4	NP_060686.3:p.(Val158Met)	NC_000001.10:g.2452296C>T	(Likely) benign	1 lab	135c2a6f81
11:66288802 BBS1 G>C	11	66288802	66288802	G	C	BBS1	c.785G>C	NM_024649.5	NP_078925.3:p.(Arg262Pro)	NC_000011.9:g.66288802G>C	VUS	1 lab	135cb6ee29
2:109336143 RANBP2 G>A	2	109336143	109336143	G	A	RANBP2	c.72+9G>A	NM_006267.5	NP_006258.3:p.?	NC_000002.11:g.109336143G>A	(Likely) benign	1 lab	135ef44a52
12:5603926 NTF3 C>T	12	5603926	5603926	C	T	NTF3	c.585C>T	NM_001102654.2	NP_001096124.1:p.(Gly195=)	NC_000012.11:g.5603926C>T	(Likely) benign	1 lab	135f6a3c07
1:40726566 ZMPSTE24 A>G	1	40726566	40726566	A	G	ZMPSTE24	c.179A>G	NM_005857.5	NP_005848.2:p.(Asp60Gly)	NC_000001.10:g.40726566A>G	(Likely) benign	1 lab	135fd6adcb
5:140788804 PCDHGB4 A>G	5	140788804	140788804	A	G	PCDHGB4	c.2397+18956A>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140788804A>G	VUS	1 lab	136166027f
11:376553 B4GALNT4 C>T	11	376553	376553	C	T	B4GALNT4	c.1430C>T	NM_178537.5	NP_848632.2:p.(Pro477Leu)	NC_000011.9:g.376553C>T	(Likely) benign	1 lab	1361a6c2d5
19:19740905 GMIP C>T	19	19740905	19740905	C	T	GMIP	c.2780G>A	NM_016573.4	NP_057657.2:p.(Arg927His)	NC_000019.9:g.19740905C>T	(Likely) benign	1 lab	136241971c
19:52934741 ZNF534 A>C	19	52934741	52934741	A	C	ZNF534	c.14A>C	NM_001143938.3	NP_001137410.1:p.(Gln5Pro)	NC_000019.9:g.52934741A>C	(Likely) benign	1 lab	13629a4b57
X:154020085 MPP1 G>A	X	154020085	154020085	G	A	MPP1	c.284C>T	NM_002436.4	NP_002427.1:p.(Thr95Met)	NC_000023.10:g.154020085G>A	VUS	1 lab	1362bd087a
17:70119722 SOX9 A>C	17	70119722	70119722	A	C	SOX9	c.724A>C	NM_000346.4	NP_000337.1:p.(Lys242Gln)	NC_000017.10:g.70119722A>C	(Likely) benign	1 lab	13634dc467
22:32202175 DEPDC5 A>G	22	32202175	32202175	A	G	DEPDC5	c.1285A>G	NM_001242896.3	NP_001229825.1:p.(Lys429Glu)	NC_000022.10:g.32202175A>G	VUS	1 lab	13659f9980
9:135947067 CEL C>G	9	135947067	135947067	C	G	CEL	c.2178C>G	NM_001807.6	NP_001798.3:p.(Pro726=)	NC_000009.11:g.135947067C>G	VUS	1 lab	136645d8ee
12:5841785 ANO2 C>G	12	5841785	5841785	C	G	ANO2	c.1446G>C	NM_001364791.2	NP_001351720.1:p.(Arg482Ser)	NC_000012.11:g.5841785C>G	VUS	1 lab	1367a45973
1:33772793 A3GALT2 G>C	1	33772793	33772793	G	C	A3GALT2	c.597C>G	NM_001080438.1	NP_001073907.1:p.(Asp199Glu)	NC_000001.10:g.33772793G>C	VUS	1 lab	136ac7c37c
19:5711775 LONP1 G>A	19	5711775	5711775	G	A	LONP1	c.870+7C>T	NM_004793.4	NP_004784.2:p.?	NC_000019.9:g.5711775G>A	(Likely) benign	1 lab	136cd745e5
1:236176845 NID1 C>T	1	236176845	236176845	C	T	NID1	c.2270G>A	NM_002508.3	NP_002499.2:p.(Arg757His)	NC_000001.10:g.236176845C>T	(Likely) benign	1 lab	136db634cf
12:56749500 STAT2 C>G	12	56749500	56749500	C	G	STAT2	c.373G>C	NM_005419.4	NP_005410.1:p.(Ala125Pro)	NC_000012.11:g.56749500C>G	VUS	1 lab	136de4fa87
16:23646499 PALB2 C>A	16	23646499	23646499	C	A	PALB2	c.1368G>T	NM_024675.4	NP_078951.2:p.(Glu456Asp)	NC_000016.9:g.23646499C>A	(Likely) benign	1 lab	136e62479b
5:154317520 GEMIN5 T>C	5	154317520	154317520	T	C	GEMIN5	c.166+8A>G	NM_015465.5	NP_056280.2:p.?	NC_000005.9:g.154317520T>C	(Likely) benign	1 lab	136f17b542
4:48563599 FRYL C>G	4	48563599	48563599	C	G	FRYL	c.3751G>C	NM_015030.2	NP_055845.1:p.(Asp1251His)	NC_000004.11:g.48563599C>G	VUS	1 lab	1370bd5672
10:16932490 CUBN G>T	10	16932490	16932490	G	T	CUBN	c.8635C>A	NM_001081.4	NP_001072.2:p.(Leu2879Ile)	NC_000010.10:g.16932490G>T	(Likely) benign	1 lab	1371c6d367
10:61822997 ANK3 G>A	10	61822997	61822997	G	A	ANK3	c.12467C>T	NM_020987.5	NP_066267.2:p.(Ser4156Leu)	NC_000010.10:g.61822997G>A	VUS	1 lab	1372c12dc0
12:13720042 GRIN2B C>T	12	13720042	13720042	C	T	GRIN2B	c.2515G>A	NM_000834.5	NP_000825.2:p.(Glu839Lys)	NC_000012.11:g.13720042C>T	(Likely) pathogenic	1 lab	1373de185a
3:145789061 PLOD2 T>G	3	145789061	145789061	T	G	PLOD2	c.1995+3A>C	NM_182943.3	NP_891988.1:p.?	NC_000003.11:g.145789061T>G	VUS	1 lab	13744cdeec
11:1955161 TNNT3 G>A	11	1955161	1955161	G	A	TNNT3	c.289G>A	NM_006757.4	NP_006748.1:p.(Glu97Lys)	NC_000011.9:g.1955161G>A	VUS	1 lab	137497e69c
20:44525629 CTSA C>T	20	44525629	44525629	C	T	CTSA	c.1114C>T	NM_000308.4	NP_000299.3:p.(Arg372Cys)	NC_000020.10:g.44525629C>T	VUS	1 lab	13769b990c
X:50094327 CCNB3 T>A	X	50094327	50094327	T	A	CCNB3	c.4048T>A	NM_033031.3	NP_149020.2:p.(Ser1350Thr)	NC_000023.10:g.50094327T>A	(Likely) benign	1 lab	1377749462
4:74124328 ANKRD17 G>A	4	74124328	74124328	G	A	ANKRD17	c.58C>T	NM_032217.5	NP_115593.3:p.(Pro20Ser)	NC_000004.11:g.74124328G>A	VUS	1 lab	1377ef7c47
1:204119090 ETNK2 G>A	1	204119090	204119090	G	A	ETNK2	c.259C>T	NM_018208.4	NP_060678.2:p.(Arg87Cys)	NC_000001.10:g.204119090G>A	VUS	1 lab	1379204de2
2:122125280 CLASP1 G>A	2	122125280	122125280	G	A	CLASP1	c.3833C>T	NM_001395891.1	NP_001382820.1:p.(Pro1278Leu)	NC_000002.11:g.122125280G>A	(Likely) benign	1 lab	1379723bbd
1:155317583 ASH1L G>A	1	155317583	155317583	G	A	ASH1L	c.7667C>T	NM_018489.3	NP_060959.2:p.(Thr2556Ile)	NC_000001.10:g.155317583G>A	VUS	1 lab	1379ab3ffc
17:48696296 CACNA1G G>A	17	48696296	48696296	G	A	CACNA1G	c.5708G>A	NM_018896.5	NP_061496.2:p.(Ser1903Asn)	NC_000017.10:g.48696296G>A	VUS	1 lab	137a62a45f
X:148628335 EOLA1 G>A	X	148628335	148628335	G	A	EOLA1	c.304G>A	NM_001171907.3	NP_001165378.1:p.(Asp102Asn)	NC_000023.10:g.148628335G>A	(Likely) benign	1 lab	137a72da45
16:30747656 SRCAP G>A	16	30747656	30747656	G	A	SRCAP	c.6865G>A	NM_006662.3	NP_006653.2:p.(Gly2289Arg)	NC_000016.9:g.30747656G>A	VUS	1 lab	137b8c953e
1:162740308 DDR2 G>A	1	162740308	162740308	G	A	DDR2	c.1504+6G>A	NM_006182.4	NP_006173.2:p.?	NC_000001.10:g.162740308G>A	(Likely) benign	1 lab	137ce284e0
8:144914473 PUF60 G>A	8	144914473	144914473	G	A	PUF60				NC_000008.10:g.144914473G>A	(Likely) benign	1 lab	137e232e26
19:47870253 DHX34 G>A	19	47870253	47870253	G	A	DHX34	c.1609G>A	NM_014681.6	NP_055496.2:p.(Val537Met)	NC_000019.9:g.47870253G>A	(Likely) benign	1 lab	137f6fbc4b
16:3900378 CREBBP C>T	16	3900378	3900378	C	T	CREBBP	c.718G>A	NM_004380.3	NP_004371.2:p.(Ala240Thr)	NC_000016.9:g.3900378C>T	VUS	1 lab	138277b03d
X:37028443 FAM47C C>T	X	37028443	37028443	C	T	FAM47C	c.1960C>T	NM_001013736.3	NP_001013758.1:p.(Leu654Phe)	NC_000023.10:g.37028443C>T	VUS	1 lab	1383acc191
5:171766825 SH3PXD2B C>G	5	171766825	171766825	C	G	SH3PXD2B	c.1284G>C	NM_001017995.3	NP_001017995.1:p.(Thr428=)	NC_000005.9:g.171766825C>G	(Likely) benign	1 lab	13849deacf
8:139649029 COL22A1 C>T	8	139649029	139649029	C	T	COL22A1	c.3511G>A	NM_152888.3	NP_690848.1:p.(Gly1171Arg)	NC_000008.10:g.139649029C>T	VUS	1 lab	1384a07640
12:114837409 TBX5 C>T	12	114837409	114837409	C	T	TBX5	c.271G>A	NM_181486.4	NP_852259.1:p.(Val91Met)	NC_000012.11:g.114837409C>T	VUS	1 lab	1385165ffa
22:50885759 SBF1 A>C	22	50885759	50885759	A	C	SBF1	c.5575T>G	NM_002972.4	NP_002963.2:p.(Phe1859Val)	NC_000022.10:g.50885759A>C	VUS	1 lab	1386078769
17:15942948 NCOR1 G>A	17	15942948	15942948	G	A	NCOR1	c.6754C>T	NM_006311.4	NP_006302.2:p.(His2252Tyr)	NC_000017.10:g.15942948G>A	(Likely) benign	1 lab	13866089b7
3:53911753 ACTR8 C>T	3	53911753	53911753	C	T	ACTR8	c.431G>A	NM_022899.5	NP_075050.3:p.(Arg144Gln)	NC_000003.11:g.53911753C>T	VUS	1 lab	1388b63590
14:30396699 PRKD1 A>G	14	30396699	30396699	A	G	PRKD1	c.20T>C	NM_002742.3	NP_002733.2:p.(Leu7Pro)	NC_000014.8:g.30396699A>G	(Likely) benign	1 lab	1388bb9fa8
12:132624304 DDX51 A>C	12	132624304	132624304	A	C	DDX51	c.1850T>G	NM_175066.4	NP_778236.2:p.(Phe617Cys)	NC_000012.11:g.132624304A>C	VUS	1 lab	1389c9db4d
5:94901756 ARSK A>T	5	94901756	94901756	A	T	ARSK	c.181A>T	NM_198150.3	NP_937793.1:p.(Asn61Tyr)	NC_000005.9:g.94901756A>T	VUS	1 lab	138b727937
5:58652753 PDE4D C>T	5	58652753	58652753	C	T	PDE4D	c.456-140959G>A	NM_001104631.2	NP_001098101.1:p.?	NC_000005.9:g.58652753C>T	(Likely) benign	1 lab	138cf90486
4:126384727 FAT4 G>A	4	126384727	126384727	G	A	FAT4	c.11810G>A	NM_001291303.3	NP_001278232.1:p.(Cys3937Tyr)	NC_000004.11:g.126384727G>A	VUS	1 lab	138df6d55b
14:74973473 LTBP2 T>G	14	74973473	74973473	T	G	LTBP2	c.3961A>C	NM_000428.3	NP_000419.1:p.(Asn1321His)	NC_000014.8:g.74973473T>G	VUS	1 lab	138fcedf54
18:61323013 SERPINB3 CT>C	18	61323013	61323014	CT	C	SERPINB3	c.1050del	NM_006919.3	NP_008850.1:p.(Gly351AspfsTer23)	NC_000018.9:g.61323014del	VUS	1 lab	139338b617
19:1226520 STK11 G>A	19	1226520	1226520	G	A	STK11	c.1176G>A	NM_000455.5	NP_000446.1:p.(Met392Ile)	NC_000019.9:g.1226520G>A	VUS	1 lab	1393adbf8d
4:158283963 GRIA2 G>A	4	158283963	158283963	G	A	GRIA2	c.2419G>A	NM_001083619.3	NP_001077088.2:p.(Ala807Thr)	NC_000004.11:g.158283963G>A	(Likely) pathogenic	1 lab	1393f1d28f
19:615981 HCN2 C>T	19	615981	615981	C	T	HCN2	c.2177C>T	NM_001194.4	NP_001185.3:p.(Ala726Val)	NC_000019.9:g.615981C>T	VUS	1 lab	1395a5499e
9:2039798 SMARCA2 CA>C	9	2039798	2039799	CA	C	SMARCA2	c.689del	NM_003070.5	NP_003061.3:p.(Gln230ArgfsTer40)	NC_000009.11:g.2039799del	VUS	1 lab	1396e56399
17:40828478 PLEKHH3 T>TCGTCCC	17	40828478	40828492	T	TCGTCCC	PLEKHH3	c.98_103dup	NM_024927.5	NP_079203.4:p.(Gly33_Asp34dup)	NC_000017.10:g.40828487_40828492dup	VUS	1 lab	139892fd17
8:17830076 PCM1 A>G	8	17830076	17830076	A	G	PCM1	c.3823A>G	NM_006197.4	NP_006188.4:p.(Lys1275Glu)	NC_000008.10:g.17830076A>G	VUS	1 lab	13999d262b
16:85715229 GINS2 G>A	16	85715229	85715229	G	A	GINS2	c.264C>T	NM_016095.3	NP_057179.1:p.(Pro88=)	NC_000016.9:g.85715229G>A	(Likely) benign	1 lab	1399c1fdd6
1:113657041 LRIG2 C>T	1	113657041	113657041	C	T	LRIG2	c.2081-8C>T	NM_014813.3	NP_055628.1:p.?	NC_000001.10:g.113657041C>T	(Likely) benign	1 lab	1399c42780
3:139092248 COPB2 G>A	3	139092248	139092248	G	A	COPB2	c.901C>T	NM_004766.3	NP_004757.1:p.(Arg301Trp)	NC_000003.11:g.139092248G>A	VUS	1 lab	139ab56d6c
8:86377596 CA2 C>G	8	86377596	86377596	C	G	CA2	c.130C>G	NM_000067.3	NP_000058.1:p.(Leu44Val)	NC_000008.10:g.86377596C>G	VUS	1 lab	139b47d684
11:31823109 PAX6 G>T	11	31823109	31823109	G	T	PAX6	c.399C>A	NM_001368894.2	NP_001355823.1:p.(Ser133Arg)	NC_000011.9:g.31823109G>T	(Likely) pathogenic	1 lab	139b5b5369
5:79034904 CMYA5 A>G	5	79034904	79034904	A	G	CMYA5	c.10316A>G	NM_153610.5	NP_705838.3:p.(Glu3439Gly)	NC_000005.9:g.79034904A>G	(Likely) benign	1 lab	139bcec621
9:98229465 PTCH1 A>G	9	98229465	98229465	A	G	PTCH1	c.2493T>C	NM_000264.5	NP_000255.2:p.(Tyr831=)	NC_000009.11:g.98229465A>G	(Likely) benign	1 lab	139d45030b
3:44828059 KIF15 C>T	3	44828059	44828059	C	T	KIF15	c.632C>T	NM_020242.3	NP_064627.1:p.(Ala211Val)	NC_000003.11:g.44828059C>T	(Likely) benign	1 lab	139e2fab08
9:136404895 ADAMTSL2 G>A	9	136404895	136404895	G	A	ADAMTSL2	c.312G>A	NM_014694.4	NP_055509.2:p.(Glu104=)	NC_000009.11:g.136404895G>A	(Likely) benign	1 lab	139f714ce0
5:180047659 FLT4 C>T	5	180047659	180047659	C	T	FLT4	c.2356G>A	NM_182925.5	NP_891555.2:p.(Ala786Thr)	NC_000005.9:g.180047659C>T	VUS	1 lab	13a0ad719a
12:50575790 LIMA1 C>G	12	50575790	50575790	C	G	LIMA1	c.1171G>C	NM_016357.5	NP_057441.1:p.(Val391Leu)	NC_000012.11:g.50575790C>G	VUS	1 lab	13a15db651
2:100194797 AFF3 G>A	2	100194797	100194797	G	A	AFF3	c.2910C>T	NM_001386135.1	NP_001373064.1:p.(Phe970=)	NC_000002.11:g.100194797G>A	(Likely) benign	1 lab	13a189691f
9:124936867 MORN5 G>T	9	124936867	124936867	G	T	MORN5	c.400G>T	NM_198469.4	NP_940871.2:p.(Val134Leu)	NC_000009.11:g.124936867G>T	VUS	1 lab	13a2a60648
7:44105101 PGAM2 G>A	7	44105101	44105101	G	A	PGAM2	c.28C>T	NM_000290.4	NP_000281.2:p.(Arg10Trp)	NC_000007.13:g.44105101G>A	VUS	1 lab	13a2a8f65d
2:169801210 ABCB11 T>C	2	169801210	169801210	T	C	ABCB11	c.2515A>G	NM_003742.4	NP_003733.2:p.(Met839Val)	NC_000002.11:g.169801210T>C	VUS	1 lab	13a32afc17
19:7267519 INSR G>T	19	7267519	7267519	G	T	INSR	c.489C>A	NM_000208.4	NP_000199.2:p.(Ile163=)	NC_000019.9:g.7267519G>T	(Likely) benign	1 lab	13a3fc4eef
3:13008886 IQSEC1 C>T	3	13008886	13008886	C	T	IQSEC1	c.24-25521G>A	NM_001134382.3	NP_001127854.1:p.?	NC_000003.11:g.13008886C>T	VUS	1 lab	13a53d78db
7:47927663 PKD1L1 A>G	7	47927663	47927663	A	G	PKD1L1	c.2761T>C	NM_138295.5	NP_612152.1:p.(Cys921Arg)	NC_000007.13:g.47927663A>G	VUS	1 lab	13a5bbb92e
6:102247583 GRIK2 C>G	6	102247583	102247583	C	G	GRIK2	c.1012C>G	NM_021956.5	NP_068775.1:p.(Pro338Ala)	NC_000006.11:g.102247583C>G	(Likely) benign	1 lab	13a5e736f7
5:112174146 APC C>T	5	112174146	112174146	C	T	APC	c.2855C>T	NM_000038.6	NP_000029.2:p.(Ala952Val)	NC_000005.9:g.112174146C>T	(Likely) benign	1 lab	13a6512f5b
1:6630966 TAS1R1 C>T	1	6630966	6630966	C	T	TAS1R1	c.192-3C>T	NM_138697.4	NP_619642.2:p.?	NC_000001.10:g.6630966C>T	VUS	1 lab	13a695f44d
19:17743633 UNC13A G>A	19	17743633	17743633	G	A	UNC13A	c.3386C>T	NM_001080421.3	NP_001073890.2:p.(Thr1129Met)	NC_000019.9:g.17743633G>A	VUS	1 lab	13a6fa0096
19:12769110 MAN2B1 C>A	19	12769110	12769110	C	A	MAN2B1	c.1158G>T	NM_000528.4	NP_000519.2:p.(Gln386His)	NC_000019.9:g.12769110C>A	VUS	1 lab	13a79df7cd
X:140994490 MAGEC1 G>A	X	140994490	140994490	G	A	MAGEC1	c.1300G>A	NM_005462.5	NP_005453.2:p.(Ala434Thr)	NC_000023.10:g.140994490G>A	(Likely) benign	1 lab	13a8b9c096
22:29747191 AP1B1 C>T	22	29747191	29747191	C	T	AP1B1	c.1124G>A	NM_001127.4	NP_001118.3:p.(Arg375His)	NC_000022.10:g.29747191C>T	VUS	1 lab	13ab8c205b
2:73800485 ALMS1 C>G	2	73800485	73800485	C	G	ALMS1	c.11481C>G	NM_001378454.1	NP_001365383.1:p.(Ser3827Arg)	NC_000002.11:g.73800485C>G	(Likely) benign	1 lab	13ac6b4b0b
6:105232941 HACE1 T>C	6	105232941	105232941	T	C	HACE1	c.1328A>G	NM_020771.4	NP_065822.2:p.(Asp443Gly)	NC_000006.11:g.105232941T>C	VUS	1 lab	13ad1cea76
17:78316974 RNF213 T>C	17	78316974	78316974	T	C	RNF213	c.6032T>C	NM_001256071.3	NP_001243000.2:p.(Met2011Thr)	NC_000017.10:g.78316974T>C	(Likely) benign	1 lab	13b043a90b
18:48581143 SMAD4 C>T	18	48581143	48581143	C	T	SMAD4	c.455-8C>T	NM_005359.6	NP_005350.1:p.?	NC_000018.9:g.48581143C>T	(Likely) benign	1 lab	13b1728262
1:93303114 RPL5 A>G	1	93303114	93303114	A	G	RPL5	c.629A>G	NM_000969.5	NP_000960.2:p.(Tyr210Cys)	NC_000001.10:g.93303114A>G	(Likely) benign	1 lab	13b1c11c0b
13:38320594 TRPC4 TAA>T	13	38320594	38320606	TAA	T	TRPC4	c.379-4_379-3del	NM_016179.4	NP_057263.1:p.?	NC_000013.10:g.38320605_38320606del	VUS	1 lab	13b4dacfdc
16:75590018 TMEM231 G>A	16	75590018	75590018	G	A	TMEM231	c.90C>T	NM_001077418.3	NP_001070886.1:p.(Ala30=)	NC_000016.9:g.75590018G>A	VUS	1 lab	13b52a2cff
1:51760156 TTC39A A>C	1	51760156	51760156	A	C	TTC39A	c.1173T>G	NM_001297663.2	NP_001284592.1:p.(Ile391Met)	NC_000001.10:g.51760156A>C	VUS	1 lab	13b5e4b81b
4:5757998 EVC A>T	4	5757998	5757998	A	T	EVC	c.1472A>T	NM_153717.3	NP_714928.1:p.(His491Leu)	NC_000004.11:g.5757998A>T	VUS	1 lab	13b6089beb
16:23464206 COG7 G>A	16	23464206	23464206	G	A	COG7	c.110C>T	NM_153603.4	NP_705831.1:p.(Ala37Val)	NC_000016.9:g.23464206G>A	VUS	1 lab	13b60f3c31
2:27151168 DPYSL5 A>C	2	27151168	27151168	A	C	DPYSL5	c.646A>C	NM_020134.4	NP_064519.2:p.(Ile216Leu)	NC_000002.11:g.27151168A>C	VUS	1 lab	13badfeda4
19:39998147 DLL3 C>T	19	39998147	39998147	C	T	DLL3	c.1562C>T	NM_203486.3	NP_982353.1:p.(Ser521Phe)	NC_000019.9:g.39998147C>T	(Likely) benign	1 lab	13bb338df9
20:5282712 PROKR2 C>T	20	5282712	5282712	C	T	PROKR2	c.1129G>A	NM_144773.4	NP_658986.1:p.(Glu377Lys)	NC_000020.10:g.5282712C>T	VUS	1 lab	13bca451cc
1:228462332 OBSCN G>A	1	228462332	228462332	G	A	OBSCN	c.6868G>A	NM_001386125.1	NP_001373054.1:p.(Glu2290Lys)	NC_000001.10:g.228462332G>A	VUS	1 lab	13bd4758ab
4:187004556 TLR3 C>T	4	187004556	187004556	C	T	TLR3	c.1716C>T	NM_003265.2	NP_003256.1:p.(Asn572=)	NC_000004.11:g.187004556C>T	(Likely) benign	1 lab	1acc83b4bd
2:946743 SNTG2 G>T	2	946743	946743	G	T	SNTG2	c.61G>T	NM_018968.4	NP_061841.2:p.(Val21Leu)	NC_000002.11:g.946743G>T	VUS	1 lab	13bed31970
17:27382239 PIPOX G>A	17	27382239	27382239	G	A	PIPOX	c.966G>A	NM_016518.3	NP_057602.2:p.(Thr322=)	NC_000017.10:g.27382239G>A	VUS	1 lab	13bf44fffb
2:157185944 NR4A2 G>T	2	157185944	157185944	G	T	NR4A2	c.755C>A	NM_006186.4	NP_006177.1:p.(Pro252Gln)	NC_000002.11:g.157185944G>T	(Likely) benign	1 lab	13c07b196d
19:13323524 CACNA1A C>T	19	13323524	13323524	C	T	CACNA1A	c.5971G>A	NM_001127222.2	NP_001120694.1:p.(Glu1991Lys)	NC_000019.9:g.13323524C>T	VUS	1 lab	13c207244b
10:79769439 POLR3A G>C	10	79769439	79769439	G	C	POLR3A	c.1771-6C>G	NM_007055.4	NP_008986.2:p.?	NC_000010.10:g.79769439G>C	(Likely) pathogenic	1 lab	13c283d143
18:43667318 ATP5F1A A>C	18	43667318	43667318	A	C	ATP5F1A	c.940T>G	NM_004046.6	NP_004037.1:p.(Leu314Val)	NC_000018.9:g.43667318A>C	VUS	1 lab	13c34cf38a
16:2156466 PKD1 GC>G	16	2156466	2156472	GC	G	PKD1	c.7421del	NM_001009944.3	NP_001009944.3:p.(Gly2474AlafsTer146)	NC_000016.9:g.2156472del	(Likely) pathogenic	1 lab	13c3e954d0
17:8393828 MYH10 C>T	17	8393828	8393828	C	T	MYH10	c.4714G>A	NM_001256012.3	NP_001242941.1:p.(Val1572Met)	NC_000017.10:g.8393828C>T	(Likely) benign	1 lab	13c59660a9
19:36351539 KIRREL2 G>A	19	36351539	36351539	G	A	KIRREL2	c.898G>A	NM_199180.4	NP_954649.3:p.(Ala300Thr)	NC_000019.9:g.36351539G>A	(Likely) benign	1 lab	13c61bff31
17:19566768 ALDH3A2 C>T	17	19566768	19566768	C	T	ALDH3A2	c.1063C>T	NM_000382.3	NP_000373.1:p.(Arg355Cys)	NC_000017.10:g.19566768C>T	VUS	1 lab	13c7eeccb6
20:36407678 CTNNBL1 T>C	20	36407678	36407678	T	C	CTNNBL1	c.891T>C	NM_001281495.1	NP_001268424.1:p.(Ser297=)	NC_000020.10:g.36407678T>C	(Likely) benign	1 lab	1ad065f5b0
19:1623938 TCF3 C>T	19	1623938	1623938	C	T	TCF3	c.549+12G>A	NM_003200.5	NP_003191.1:p.?	NC_000019.9:g.1623938C>T	(Likely) benign	1 lab	1ad1d88681
3:63898390 ATXN7 A>C	3	63898390	63898390	A	C	ATXN7	c.116A>C	NM_001377405.1	NP_001364334.1:p.(Gln39Pro)	NC_000003.11:g.63898390A>C	(Likely) benign	1 lab	13c8b40353
10:78674754 KCNMA1 C>T	10	78674754	78674754	C	T	KCNMA1	c.2956G>A	NM_001161352.2	NP_001154824.1:p.(Gly986Arg)	NC_000010.10:g.78674754C>T	VUS	1 lab	13c903dc90
X:47086565 CDK16 T>TTGTCC	X	47086565	47086571	T	TTGTCC	CDK16	c.1242-13_1242-9dup	NM_006201.5	NP_006192.1:p.?	NC_000023.10:g.47086567_47086571dup	(Likely) benign	1 lab	13cacd4a03
16:71803572 AP1G1 G>T	16	71803572	71803572	G	T	AP1G1	c.596C>A	NM_001128.6	NP_001119.3:p.(Thr199Lys)	NC_000016.9:g.71803572G>T	VUS	1 lab	13cb085e6e
18:59741898 PIGN C>T	18	59741898	59741898	C	T	PIGN	c.2619+114G>A	NM_176787.4	NP_789744.1:p.?	NC_000018.9:g.59741898C>T	(Likely) benign	1 lab	1ad813ab2a
X:132160512 USP26 C>T	X	132160512	132160512	C	T	USP26	c.1737G>A	NM_031907.3	NP_114113.1:p.(Met579Ile)	NC_000023.10:g.132160512C>T	(Likely) benign	1 lab	13cc6b0bf3
12:114832653 TBX5 C>T	12	114832653	114832653	C	T	TBX5	c.556G>A	NM_181486.4	NP_852259.1:p.(Val186Met)	NC_000012.11:g.114832653C>T	VUS	1 lab	13cdad142d
12:48367329 COL2A1 G>A	12	48367329	48367329	G	A	COL2A1	c.4325C>T	NM_001844.5	NP_001835.3:p.(Thr1442Ile)	NC_000012.11:g.48367329G>A	VUS	1 lab	13cde005a8
16:89347708 ANKRD11 CG>C	16	89347708	89347711	CG	C	ANKRD11	c.5241del	NM_013275.6	NP_037407.4:p.(Val1748CysfsTer215)	NC_000016.9:g.89347711del	(Likely) pathogenic	1 lab	13ce70cf2c
4:1804780 FGFR3 G>C	4	1804780	1804780	G	C	FGFR3	c.931-639G>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804780G>C	(Likely) benign	1 lab	13ce8ea4fe
6:88273855 RARS2 G>T	6	88273855	88273855	G	T	RARS2	c.206C>A	NM_020320.5	NP_064716.2:p.(Ala69Glu)	NC_000006.11:g.88273855G>T	VUS	1 lab	2f7c8f82ed
16:88804171 PIEZO1 G>A	16	88804171	88804171	G	A	PIEZO1	c.1072C>T	NM_001142864.4	NP_001136336.2:p.(Leu358=)	NC_000016.9:g.88804171G>A	(Likely) benign	1 lab	13cec72f7b
12:93968737 SOCS2 G>A	12	93968737	93968737	G	A	SOCS2	c.379G>A	NM_001270471.2	NP_001257400.1:p.(Asp127Asn)	NC_000012.11:g.93968737G>A	VUS	1 lab	13d102b34b
4:185618881 CENPU C>T	4	185618881	185618881	C	T	CENPU	c.1063G>A	NM_024629.4	NP_078905.2:p.(Ala355Thr)	NC_000004.11:g.185618881C>T	(Likely) benign	1 lab	13d1cd5faa
11:17428441 ABCC8 G>A	11	17428441	17428441	G	A	ABCC8	c.3156C>T	NM_000352.6	NP_000343.2:p.(Leu1052=)	NC_000011.9:g.17428441G>A	(Likely) benign	1 lab	13d26a93fc
3:58062842 FLNB A>T	3	58062842	58062842	A	T	FLNB	c.362A>T	NM_001457.4	NP_001448.2:p.(Tyr121Phe)	NC_000003.11:g.58062842A>T	(Likely) benign	1 lab	13d55394bf
7:82580293 PCLO A>T	7	82580293	82580293	A	T	PCLO	c.9611T>A	NM_033026.6	NP_149015.2:p.(Val3204Asp)	NC_000007.13:g.82580293A>T	(Likely) benign	1 lab	13d58f27b9
11:68206028 LRP5 G>A	11	68206028	68206028	G	A	LRP5	c.4226G>A	NM_002335.4	NP_002326.2:p.(Arg1409His)	NC_000011.9:g.68206028G>A	VUS	1 lab	13d6bdd0c5
1:159778798 FCRL6 C>T	1	159778798	159778798	C	T	FCRL6	c.367C>T	NM_001004310.3	NP_001004310.2:p.(Arg123Ter)	NC_000001.10:g.159778798C>T	(Likely) benign	1 lab	13d6dac590
X:54496838 FGD1 G>A	X	54496838	54496838	G	A	FGD1	c.712C>T	NM_004463.3	NP_004454.2:p.(Pro238Ser)	NC_000023.10:g.54496838G>A	VUS	1 lab	13d89ad921
12:52200337 SCN8A G>C	12	52200337	52200337	G	C	SCN8A	c.5067G>C	NM_001330260.2	NP_001317189.1:p.(Glu1689Asp)	NC_000012.11:g.52200337G>C	VUS	1 lab	13d994f6c6
14:74769611 ABCD4 G>A	14	74769611	74769611	G	A	ABCD4	c.5C>T	NM_005050.4	NP_005041.1:p.(Ala2Val)	NC_000014.8:g.74769611G>A	VUS	1 lab	13dad94f17
19:5693409 LONP1 G>A	19	5693409	5693409	G	A	LONP1	c.2603C>T	NM_004793.4	NP_004784.2:p.(Ala868Val)	NC_000019.9:g.5693409G>A	VUS	1 lab	2f7d39b3a8
12:122254985 SETD1B G>T	12	122254985	122254985	G	T	SETD1B	c.2762G>T	NM_001353345.2	NP_001340274.1:p.(Arg921Met)	NC_000012.11:g.122254985G>T	VUS	1 lab	13dd5e6556
10:129902189 MKI67 C>T	10	129902189	129902189	C	T	MKI67	c.7915G>A	NM_002417.5	NP_002408.3:p.(Gly2639Ser)	NC_000010.10:g.129902189C>T	(Likely) benign	1 lab	13dd7f6a4b
1:27587432 WDTC1 AT>A	1	27587432	27587439	AT	A	WDTC1	c.-99-8del	NM_001276252.2	NP_001263181.1:p.?	NC_000001.10:g.27587439del	(Likely) benign	1 lab	13dda7bc92
X:32563438 DMD A>G	X	32563438	32563438	A	G	DMD	c.2006T>C	NM_004006.3	NP_003997.2:p.(Val669Ala)	NC_000023.10:g.32563438A>G	(Likely) benign	1 lab	13dde8905e
6:32064245 TNXB C>T	6	32064245	32064245	C	T	TNXB	c.1385G>A	NM_001365276.2	NP_001352205.1:p.(Gly462Asp)	NC_000006.11:g.32064245C>T	VUS	1 lab	13de5e5f5b
1:231402036 GNPAT C>G	1	231402036	231402036	C	G	GNPAT	c.938C>G	NM_014236.4	NP_055051.1:p.(Ala313Gly)	NC_000001.10:g.231402036C>G	VUS	1 lab	13de7ec4aa
4:184205430 WWC2 C>T	4	184205430	184205430	C	T	WWC2	c.2935C>T	NM_024949.6	NP_079225.5:p.(Arg979Cys)	NC_000004.11:g.184205430C>T	(Likely) benign	1 lab	13df8fba40
17:78069129 CCDC40 G>T	17	78069129	78069129	G	T	CCDC40	c.2900G>T	NM_017950.4	NP_060420.2:p.(Arg967Leu)	NC_000017.10:g.78069129G>T	(Likely) benign	1 lab	13e11093b1
19:48917799 GRIN2D G>A	19	48917799	48917799	G	A	GRIN2D	c.1370G>A	NM_000836.4	NP_000827.2:p.(Arg457Gln)	NC_000019.9:g.48917799G>A	VUS	1 lab	13e211d46b
Y:4968621 PCDH11Y A>C	Y	4968621	4968621	A	C	PCDH11Y	c.2726A>C	NM_001395587.1	NP_001382516.1:p.(Asp909Ala)	NC_000024.9:g.4968621A>C	(Likely) benign	1 lab	13e5469f62
9:134334603 PRRC2B A>G	9	134334603	134334603	A	G	PRRC2B	c.1264A>G	NM_013318.4	NP_037450.2:p.(Ser422Gly)	NC_000009.11:g.134334603A>G	(Likely) benign	1 lab	13e5b6566e
1:45974669 MMACHC C>A	1	45974669	45974669	C	A	MMACHC	c.631C>A	NM_015506.3	NP_056321.2:p.(Pro211Thr)	NC_000001.10:g.45974669C>A	(Likely) benign	1 lab	13e71ea65c
3:184090371 THPO G>A	3	184090371	184090371	G	A	THPO	c.992C>T	NM_000460.4	NP_000451.1:p.(Thr331Met)	NC_000003.11:g.184090371G>A	VUS	1 lab	13e725f0f7
2:209113388 IDH1 G>A	2	209113388	209113388	G	A	IDH1	c.123-4C>T	NM_005896.4	NP_005887.2:p.?	NC_000002.11:g.209113388G>A	(Likely) benign	1 lab	13e77498a5
14:20757862 TTC5 A>G	14	20757862	20757862	A	G	TTC5	c.1247T>C	NM_138376.3	NP_612385.2:p.(Leu416Pro)	NC_000014.8:g.20757862A>G	VUS	1 lab	13e77e2304
14:102449870 DYNC1H1 G>A	14	102449870	102449870	G	A	DYNC1H1	c.1385G>A	NM_001376.5	NP_001367.2:p.(Arg462His)	NC_000014.8:g.102449870G>A	(Likely) pathogenic	1 lab	13eb0abbcc
7:87737524 ADAM22 C>T	7	87737524	87737524	C	T	ADAM22	c.424C>T	NM_001324418.2	NP_001311347.1:p.(Arg142Ter)	NC_000007.13:g.87737524C>T	(Likely) pathogenic	1 lab	13ebbebcb7
12:121426803 HNF1A G>T	12	121426803	121426803	G	T	HNF1A	c.494G>T	NM_000545.8	NP_000536.6:p.(Trp165Leu)	NC_000012.11:g.121426803G>T	(Likely) pathogenic	1 lab	13ebcc3089
9:139391324 NOTCH1 G>T	9	139391324	139391324	G	T	NOTCH1	c.6867C>A	NM_017617.5	NP_060087.3:p.(Ser2289Arg)	NC_000009.11:g.139391324G>T	VUS	1 lab	13ec961662
16:88773596 CTU2 C>G	16	88773596	88773596	C	G	CTU2	c.121C>G	NM_001012759.3	NP_001012777.1:p.(Arg41Gly)	NC_000016.9:g.88773596C>G	VUS	1 lab	13ed199b1d
1:197074072 ASPM G>A	1	197074072	197074072	G	A	ASPM	c.4309C>T	NM_018136.5	NP_060606.3:p.(Arg1437Cys)	NC_000001.10:g.197074072G>A	VUS	1 lab	13efe5e8ee
2:179480066 TTN C>T	2	179480066	179480066	C	T	TTN	c.48606G>A	NM_001267550.2	NP_001254479.2:p.(Trp16202Ter)	NC_000002.11:g.179480066C>T	(Likely) pathogenic	1 lab	13f174e37f
1:43204145 CLDN19 G>A	1	43204145	43204145	G	A	CLDN19	c.335C>T	NM_148960.3	NP_683763.2:p.(Pro112Leu)	NC_000001.10:g.43204145G>A	VUS	1 lab	13f1fdbfc4
1:13448169 PRAMEF13 C>T	1	13448169	13448169	C	T	PRAMEF13	c.1306G>A	NM_001291380.1	NP_001278309.1:p.(Glu436Lys)	NC_000001.10:g.13448169C>T	(Likely) benign	1 lab	13f406968b
4:1801116 FGFR3 T>C	4	1801116	1801116	T	C	FGFR3	c.245T>C	NM_000142.5	NP_000133.1:p.(Val82Ala)	NC_000004.11:g.1801116T>C	VUS	1 lab	13f4690ff1
3:58135723 FLNB G>A	3	58135723	58135723	G	A	FLNB	c.6238G>A	NM_001457.4	NP_001448.2:p.(Val2080Met)	NC_000003.11:g.58135723G>A	VUS	1 lab	13f47a2414
8:97157534 GDF6 G>A	8	97157534	97157534	G	A	GDF6	c.625C>T	NM_001001557.4	NP_001001557.1:p.(Pro209Ser)	NC_000008.10:g.97157534G>A	(Likely) benign	1 lab	13f53f1f43
7:34118574 BMPER C>T	7	34118574	34118574	C	T	BMPER	c.1184C>T	NM_001365308.1	NP_001352237.1:p.(Ser395Phe)	NC_000007.13:g.34118574C>T	VUS	1 lab	13f5a1e36b
8:120114644 COLEC10 C>T	8	120114644	120114644	C	T	COLEC10	c.346+4C>T	NM_006438.5	NP_006429.2:p.?	NC_000008.10:g.120114644C>T	(Likely) benign	1 lab	13f852b469
17:80900311 QTGAL TGTCTC>T	17	80900311	80900316	TGTCTC	T	QTGAL	c.*1634_*1638del	NM_001009905.3	NP_001009905.2:p.?	NC_000017.10:g.80900312_80900316del	VUS	1 lab	13f85e498c
15:52439710 GNB5 C>CAG	15	52439710	52439712	C	CAG	GNB5	c.438_439dup	NM_016194.4	NP_057278.2:p.(Cys147SerfsTer5)	NC_000015.9:g.52439711_52439712dup	VUS	1 lab	13f8bacaf7
1:152278799 FLG C>G	1	152278799	152278799	C	G	FLG	c.8563G>C	NM_002016.2	NP_002007.1:p.(Gly2855Arg)	NC_000001.10:g.152278799C>G	(Likely) benign	1 lab	13f91cc839
20:61444555 OGFR G>A	20	61444555	61444555	G	A	OGFR	c.1588G>A	NM_007346.4	NP_031372.2:p.(Ala530Thr)	NC_000020.10:g.61444555G>A	VUS	1 lab	13f99800d3
6:116443109 COL10A1 C>T	6	116443109	116443109	C	T	COL10A1	c.170G>A	NM_000493.4	NP_000484.2:p.(Gly57Glu)	NC_000006.11:g.116443109C>T	VUS	1 lab	13fb497f78
X:17744472 NHS G>T	X	17744472	17744472	G	T	NHS	c.2246G>T	NM_001291867.2	NP_001278796.1:p.(Gly749Val)	NC_000023.10:g.17744472G>T	VUS	1 lab	13fcd551c7
15:89414678 ACAN C>T	15	89414678	89414678	C	T	ACAN	c.7126C>T	NM_001369268.1	NP_001356197.1:p.(Arg2376Cys)	NC_000015.9:g.89414678C>T	(Likely) benign	1 lab	13fdfa75a0
8:28286249 FBXO16 G>A	8	28286249	28286249	G	A	FBXO16	c.874C>T	NM_172366.4	NP_758954.1:p.(Pro292Ser)	NC_000008.10:g.28286249G>A	(Likely) benign	1 lab	13fe348c62
21:47423661 COL6A1 C>T	21	47423661	47423661	C	T	COL6A1	c.2821C>T	NM_001848.3	NP_001839.2:p.(Leu941Phe)	NC_000021.8:g.47423661C>T	VUS	1 lab	13fedeb43c
21:43816047 TMPRSS3 T>A	21	43816047	43816047	T	A	TMPRSS3	c.-52+4A>T	NM_001256317.3	NP_001243246.1:p.?	NC_000021.8:g.43816047T>A	VUS	1 lab	14004340ed
19:11169514 SMARCA4 C>T	19	11169514	11169514	C	T	SMARCA4	c.4584C>T	NM_003072.5	NP_003063.2:p.(Asp1528=)	NC_000019.9:g.11169514C>T	(Likely) benign	1 lab	14006bb58b
2:202357871 CATSPERT C>T	2	202357871	202357871	C	T	CATSPERT	c.3193G>A	NM_001168221.2	NP_001161693.1:p.(Glu1065Lys)	NC_000002.11:g.202357871C>T	VUS	1 lab	1400ebdce7
X:153278500 IRAK1 C>T	X	153278500	153278500	C	T	IRAK1	c.1924G>A	NM_001569.4	NP_001560.2:p.(Val642Met)	NC_000023.10:g.153278500C>T	(Likely) benign	1 lab	1ad8586600
X:151138818 GABRE T>C	X	151138818	151138818	T	C	GABRE	c.113A>G	NM_004961.4	NP_004952.2:p.(Tyr38Cys)	NC_000023.10:g.151138818T>C	(Likely) benign	1 lab	1403c88afc
3:183853307 EIF2B5 C>G	3	183853307	183853307	C	G	EIF2B5	c.134C>G	NM_003907.3	NP_003898.2:p.(Ala45Gly)	NC_000003.11:g.183853307C>G	VUS	1 lab	14044bd29c
12:49431144 KMT2D G>C	12	49431144	49431144	G	C	KMT2D	c.9995C>G	NM_003482.4	NP_003473.3:p.(Thr3332Ser)	NC_000012.11:g.49431144G>C	(Likely) benign	1 lab	14051e94d9
9:13122130 MPDZ C>G	9	13122130	13122130	C	G	MPDZ	c.4993G>C	NM_001378778.1	NP_001365707.1:p.(Ala1665Pro)	NC_000009.11:g.13122130C>G	VUS	1 lab	140765a512
2:205986331 PARD3B C>T	2	205986331	205986331	C	T	PARD3B	c.823C>T	NM_001302769.2	NP_001289698.1:p.(Arg275Cys)	NC_000002.11:g.205986331C>T	VUS	1 lab	1408ccca48
1:64100506 PGM1 G>A	1	64100506	64100506	G	A	PGM1	c.689G>A	NM_002633.3	NP_002624.2:p.(Gly230Glu)	NC_000001.10:g.64100506G>A	VUS	1 lab	14092720f3
16:17292229 XYLT1 G>C	16	17292229	17292229	G	C	XYLT1	c.1129C>G	NM_022166.4	NP_071449.1:p.(Gln377Glu)	NC_000016.9:g.17292229G>C	(Likely) benign	1 lab	140930c288
5:151202370 GLRA1 C>T	5	151202370	151202370	C	T	GLRA1	c.1214G>A	NM_000171.4	NP_000162.2:p.(Arg405Gln)	NC_000005.9:g.151202370C>T	(Likely) benign	1 lab	14093ef4a0
17:73774722 H3-3B G>A	17	73774722	73774722	G	A	H3-3B	c.365C>T	NM_005324.5	NP_005315.1:p.(Pro122Leu)	NC_000017.10:g.73774722G>A	(Likely) pathogenic	1 lab	1409a6e133
3:33840231 PDCD6IP T>A	3	33840231	33840231	T	A	PDCD6IP	c.11T>A	NM_013374.6	NP_037506.2:p.(Phe4Tyr)	NC_000003.11:g.33840231T>A	(Likely) benign	1 lab	140a8f007b
9:141014740 CACNA1B C>T	9	141014740	141014740	C	T	CACNA1B	c.6154C>T	NM_000718.4	NP_000709.1:p.(His2052Tyr)	NC_000009.11:g.141014740C>T	(Likely) benign	1 lab	140b296ab3
8:144890948 SCRIB G>T	8	144890948	144890948	G	T	SCRIB	c.1946C>A	NM_182706.5	NP_874365.3:p.(Pro649His)	NC_000008.10:g.144890948G>T	(Likely) benign	1 lab	140c6c5cb8
9:127533379 NR6A1 G>T	9	127533379	127533379	G	T	NR6A1	c.20C>A	NM_033334.4	NP_201591.2:p.(Pro7Gln)	NC_000009.11:g.127533379G>T	(Likely) benign	1 lab	140d425478
19:42797901 CIC C>A	19	42797901	42797901	C	A	CIC	c.6680C>A	NM_001386298.1	NP_001373227.1:p.(Thr2227Asn)	NC_000019.9:g.42797901C>A	VUS	1 lab	140e46deff
11:118373936 KMT2A G>C	11	118373936	118373936	G	C	KMT2A	c.7329G>C	NM_001197104.2	NP_001184033.1:p.(Lys2443Asn)	NC_000011.9:g.118373936G>C	(Likely) benign	1 lab	140efaf659
11:110450293 ARHGAP20 A>T	11	110450293	110450293	A	T	ARHGAP20	c.3377T>A	NM_020809.4	NP_065860.2:p.(Phe1126Tyr)	NC_000011.9:g.110450293A>T	VUS	1 lab	1a6667e6ba
14:67648216 GPHN C>T	14	67648216	67648216	C	T	GPHN	c.*562C>T	NM_020806.5	NP_065857.1:p.?	NC_000014.8:g.67648216C>T	VUS	1 lab	140f9f2d2d
1:231411909 GNPAT G>T	1	231411909	231411909	G	T	GNPAT	c.1966G>T	NM_014236.4	NP_055051.1:p.(Glu656Ter)	NC_000001.10:g.231411909G>T	VUS	1 lab	1410f7b78c
X:63444950 ASB12 A>T	X	63444950	63444950	A	T	ASB12	c.581T>A	NM_130388.4	NP_569059.3:p.(Leu194Gln)	NC_000023.10:g.63444950A>T	VUS	1 lab	141123136a
19:10270443 DNMT1 C>T	19	10270443	10270443	C	T	DNMT1	c.1171G>A	NM_001130823.3	NP_001124295.1:p.(Val391Met)	NC_000019.9:g.10270443C>T	VUS	1 lab	14112917a7
1:226125235 LEFTY2 G>C	1	226125235	226125235	G	C	LEFTY2	c.1007C>G	NM_003240.5	NP_003231.2:p.(Thr336Ser)	NC_000001.10:g.226125235G>C	VUS	1 lab	141291c1fe
11:64060521 KCNK4 G>GC	11	64060521	64060522	G	GC	KCNK4	c.32dup	NM_033310.3	NP_201567.1:p.(Leu12AlafsTer56)	NC_000011.9:g.64060522dup	VUS	1 lab	1412ab621c
10:88485936 LDB3 TC>T	10	88485936	88485940	TC	T	LDB3	c.2025del	NM_007078.3	NP_009009.1:p.(Val676TrpfsTer27)	NC_000010.10:g.88485940del	VUS	1 lab	1412ceff12
X:153036095 PLXNB3 G>A	X	153036095	153036095	G	A	PLXNB3	c.2008G>A	NM_005393.3	NP_005384.2:p.(Glu670Lys)	NC_000023.10:g.153036095G>A	(Likely) benign	1 lab	14143e442c
5:36961619 NIPBL A>G	5	36961619	36961619	A	G	NIPBL	c.392A>G	NM_133433.4	NP_597677.2:p.(Asn131Ser)	NC_000005.9:g.36961619A>G	(Likely) benign	1 lab	14147baaf2
17:80881588 TBCD G>A	17	80881588	80881588	G	A	TBCD	c.2239G>A	NM_005993.5	NP_005984.3:p.(Glu747Lys)	NC_000017.10:g.80881588G>A	(Likely) benign	1 lab	14155c75dc
1:8528871 RERE G>A	1	8528871	8528871	G	A	RERE	c.1105-2788C>T	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8528871G>A	(Likely) benign	1 lab	1416b85c5b
3:195514355 MUC4 CA>C	3	195514355	195514356	CA	C	MUC4	c.4095del	NM_018406.7	NP_060876.5:p.(Asp1365GlufsTer79)	NC_000003.11:g.195514356del	(Likely) benign	1 lab	1416f8701d
19:17881607 FCHO1 A>G	19	17881607	17881607	A	G	FCHO1	c.496A>G	NM_015122.3	NP_055937.1:p.(Thr166Ala)	NC_000019.9:g.17881607A>G	VUS	1 lab	141763bb16
2:55800794 PPP4R3B A>C	2	55800794	55800794	A	C	PPP4R3B	c.1726T>G	NM_001122964.3	NP_001116436.3:p.(Leu576Val)	NC_000002.11:g.55800794A>C	(Likely) benign	1 lab	14187dd23c
16:89611154 SPG7 G>A	16	89611154	89611154	G	A	SPG7	c.1423G>A	NM_003119.4	NP_003110.1:p.(Val475Ile)	NC_000016.9:g.89611154G>A	VUS	1 lab	141aec4c0c
4:103578838 MANBA C>T	4	103578838	103578838	C	T	MANBA	c.1704+1G>A	NM_005908.4	NP_005899.3:p.?	NC_000004.11:g.103578838C>T	(Likely) pathogenic	1 lab	141c8a6890
2:86831455 RNF103 C>A	2	86831455	86831455	C	A	RNF103	c.1569G>T	NM_005667.4	NP_005658.1:p.(Gln523His)	NC_000002.11:g.86831455C>A	VUS	1 lab	141dcc7b5f
12:52711450 KRT83 T>C	12	52711450	52711450	T	C	KRT83	c.750+15A>G	NM_002282.3	NP_002273.3:p.?	NC_000012.11:g.52711450T>C	(Likely) benign	1 lab	1a6d95705e
15:65370350 KBTBD13 C>T	15	65370350	65370350	C	T	KBTBD13	c.1197C>T	NM_001101362.3	NP_001094832.1:p.(Arg399=)	NC_000015.9:g.65370350C>T	(Likely) benign	1 lab	141f7f28d8
15:99500391 IGF1R G>A	15	99500391	99500391	G	A	IGF1R	c.3824G>A	NM_000875.5	NP_000866.1:p.(Arg1275Gln)	NC_000015.9:g.99500391G>A	VUS	1 lab	14217782c5
8:37623273 PLPBP A>G	8	37623273	37623273	A	G	PLPBP	c.243+9A>G	NM_007198.4	NP_009129.1:p.?	NC_000008.10:g.37623273A>G	VUS	1 lab	1422ad14f2
14:50626416 SOS2 C>T	14	50626416	50626416	C	T	SOS2	c.1585G>A	NM_006939.4	NP_008870.2:p.(Ala529Thr)	NC_000014.8:g.50626416C>T	VUS	1 lab	14247bc485
2:198281459 SF3B1 A>T	2	198281459	198281459	A	T	SF3B1	c.666+6T>A	NM_012433.4	NP_036565.2:p.?	NC_000002.11:g.198281459A>T	(Likely) benign	1 lab	1426514713
X:15838432 ZRSR2 G>A	X	15838432	15838432	G	A	ZRSR2	c.930G>A	NM_005089.4	NP_005080.1:p.(Ala310=)	NC_000023.10:g.15838432G>A	(Likely) benign	1 lab	142696ccc8
1:161496042 HSPA6 G>A	1	161496042	161496042	G	A	HSPA6	c.1594G>A	NM_002155.5	NP_002146.2:p.(Glu532Lys)	NC_000001.10:g.161496042G>A	VUS	1 lab	1427a119c0
X:17745182 NHS T>C	X	17745182	17745182	T	C	NHS	c.2956T>C	NM_001291867.2	NP_001278796.1:p.(Ser986Pro)	NC_000023.10:g.17745182T>C	VUS	1 lab	14290ccbc3
14:105634353 JAG2 T>C	14	105634353	105634353	T	C	JAG2	c.158A>G	NM_002226.5	NP_002217.3:p.(Asp53Gly)	NC_000014.8:g.105634353T>C	VUS	1 lab	142a1c7330
2:163055318 FAP A>G	2	163055318	163055318	A	G	FAP	c.1351T>C	NM_004460.5	NP_004451.2:p.(Tyr451His)	NC_000002.11:g.163055318A>G	VUS	1 lab	142a336189
2:210685084 UNC80 G>A	2	210685084	210685084	G	A	UNC80	c.2012G>A	NM_001371986.1	NP_001358915.1:p.(Arg671His)	NC_000002.11:g.210685084G>A	VUS	1 lab	142b12db32
5:71528272 MRPS27 T>G	5	71528272	71528272	T	G	MRPS27	c.589A>C	NM_015084.3	NP_055899.2:p.(Ser197Arg)	NC_000005.9:g.71528272T>G	(Likely) benign	1 lab	142c685081
12:99898250 ANKS1B T>C	12	99898250	99898250	T	C	ANKS1B	c.1438+4A>G	NM_001352186.2	NP_001339115.1:p.?	NC_000012.11:g.99898250T>C	VUS	1 lab	142cbc969e
2:33526625 LTBP1 A>T	2	33526625	33526625	A	T	LTBP1	c.3395A>T	NM_206943.4	NP_996826.3:p.(His1132Leu)	NC_000002.11:g.33526625A>T	VUS	1 lab	142d02f9ec
7:117365290 CTTNBP2 AT>A	7	117365290	117365292	AT	A	CTTNBP2	c.4076del	NM_033427.3	NP_219499.1:p.(Asn1359MetfsTer18)	NC_000007.13:g.117365292del	VUS	1 lab	142d186342
19:8130867 FBN3 G>T	19	8130867	8130867	G	T	FBN3	c.8366C>A	NM_032447.5	NP_115823.3:p.(Pro2789Gln)	NC_000019.9:g.8130867G>T	(Likely) benign	1 lab	142d97b4d8
16:5125467 ALG1 C>T	16	5125467	5125467	C	T	ALG1	c.469C>T	NM_019109.5	NP_061982.3:p.(His157Tyr)	NC_000016.9:g.5125467C>T	VUS	1 lab	142dfd46dd
12:133238175 POLE A>G	12	133238175	133238175	A	G	POLE	c.2802T>C	NM_006231.4	NP_006222.2:p.(Asp934=)	NC_000012.11:g.133238175A>G	(Likely) benign	1 lab	142e5d919a
12:4763476 NDUFA9 T>C	12	4763476	4763476	T	C	NDUFA9	c.68T>C	NM_005002.5	NP_004993.1:p.(Ile23Thr)	NC_000012.11:g.4763476T>C	VUS	1 lab	1430b6b8f6
2:165997448 SCN3A A>G	2	165997448	165997448	A	G	SCN3A	c.1732T>C	NM_006922.4	NP_008853.3:p.(Phe578Leu)	NC_000002.11:g.165997448A>G	VUS	1 lab	143343efba
X:53616644 HUWE1 T>C	X	53616644	53616644	T	C	HUWE1	c.4324A>G	NM_031407.7	NP_113584.3:p.(Thr1442Ala)	NC_000023.10:g.53616644T>C	(Likely) benign	1 lab	1434ec7d35
X:122801458 THOC2 G>A	X	122801458	122801458	G	A	THOC2	c.1018-329C>T	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122801458G>A	(Likely) benign	1 lab	1435ce38a5
3:122003386 CASR T>C	3	122003386	122003386	T	C	CASR	c.2585T>C	NM_000388.4	NP_000379.3:p.(Phe862Ser)	NC_000003.11:g.122003386T>C	VUS	1 lab	1436534ae9
14:105241267 AKT1 C>T	14	105241267	105241267	C	T	AKT1	c.633+8G>A	NM_001382430.1	NP_001369359.1:p.?	NC_000014.8:g.105241267C>T	(Likely) benign	1 lab	143682dece
11:45947773 LARGE2 G>C	11	45947773	45947773	G	C	LARGE2	c.883G>C	NM_001300721.2	NP_001287650.1:p.(Asp295His)	NC_000011.9:g.45947773G>C	VUS	1 lab	14377a1eaa
15:90294281 MESP1 A>C	15	90294281	90294281	A	C	MESP1	c.182T>G	NM_018670.4	NP_061140.1:p.(Leu61Arg)	NC_000015.9:g.90294281A>C	(Likely) benign	1 lab	143a20c988
22:41533737 EP300 G>A	22	41533737	41533737	G	A	EP300	c.1703G>A	NM_001429.4	NP_001420.2:p.(Arg568Gln)	NC_000022.10:g.41533737G>A	(Likely) benign	1 lab	143aefe7f0
12:15035046 MGP A>C	12	15035046	15035046	A	C	MGP	c.*27T>G	NM_000900.5	NP_000891.2:p.?	NC_000012.11:g.15035046A>C	(Likely) benign	1 lab	143b141a37
11:10800431 CTR9 C>A	11	10800431	10800431	C	A	CTR9	c.3301C>A	NM_014633.5	NP_055448.1:p.(Gln1101Lys)	NC_000011.9:g.10800431C>A	VUS	1 lab	143b57721e
13:25486875 CPAP T>C	13	25486875	25486875	T	C	CPAP	c.289A>G	NM_018451.5	NP_060921.3:p.(Thr97Ala)	NC_000013.10:g.25486875T>C	(Likely) benign	1 lab	143ca791fb
1:225452881 DNAH14 C>T	1	225452881	225452881	C	T	DNAH14	c.7223-3C>T	NM_001367479.1	NP_001354408.1:p.?	NC_000001.10:g.225452881C>T	(Likely) benign	1 lab	143d10859a
2:122125287 CLASP1 C>A	2	122125287	122125287	C	A	CLASP1	c.3826G>T	NM_001395891.1	NP_001382820.1:p.(Ala1276Ser)	NC_000002.11:g.122125287C>A	VUS	1 lab	143dfb90c8
11:17430022 ABCC8 G>C	11	17430022	17430022	G	C	ABCC8	c.2737C>G	NM_000352.6	NP_000343.2:p.(Leu913Val)	NC_000011.9:g.17430022G>C	VUS	1 lab	14406815df
1:46660047 POMGNT1 CTG>C	1	46660047	46660052	CTG	C	POMGNT1	c.776_777del	NM_017739.4	NP_060209.4:p.(Thr259ArgfsTer14)	NC_000001.10:g.46660051_46660052del	(Likely) pathogenic	1 lab	144327fda9
1:230846446 AGT A>G	1	230846446	230846446	A	G	AGT	c.151T>C	NM_000029.4	NP_000020.1:p.(Cys51Arg)	NC_000001.10:g.230846446A>G	(Likely) benign	1 lab	1ad956e148
X:153591780 FLNA C>T	X	153591780	153591780	C	T	FLNA	c.2280+610G>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153591780C>T	(Likely) benign	1 lab	1443e28cdf
9:26913937 PLAA G>A	9	26913937	26913937	G	A	PLAA	c.1495C>T	NM_001031689.3	NP_001026859.1:p.(Arg499Cys)	NC_000009.11:g.26913937G>A	VUS	1 lab	14442b1f7f
5:180045802 FLT4 C>T	5	180045802	180045802	C	T	FLT4	c.2969G>A	NM_182925.5	NP_891555.2:p.(Gly990Asp)	NC_000005.9:g.180045802C>T	(Likely) benign	1 lab	14465c74ca
16:3824614 CREBBP T>C	16	3824614	3824614	T	C	CREBBP	c.2239A>G	NM_004380.3	NP_004371.2:p.(Met747Val)	NC_000016.9:g.3824614T>C	(Likely) benign	1 lab	1447768842
7:151935254 KMT2C A>T	7	151935254	151935254	A	T	KMT2C	c.2652+538T>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151935254A>T	(Likely) benign	1 lab	1447c30785
11:6633350 TAF10 G>A	11	6633350	6633350	G	A	TAF10	c.71C>T	NM_006284.4	NP_006275.1:p.(Ala24Val)	NC_000011.9:g.6633350G>A	(Likely) benign	1 lab	1447e2772f
12:988859 WNK1 C>G	12	988859	988859	C	G	WNK1	c.2494C>G	NM_018979.4	NP_061852.3:p.(Pro832Ala)	NC_000012.11:g.988859C>G	(Likely) benign	1 lab	144841c607
14:71199739 MAP3K9 G>A	14	71199739	71199739	G	A	MAP3K9	c.2347C>T	NM_001284230.2	NP_001271159.1:p.(Pro783Ser)	NC_000014.8:g.71199739G>A	(Likely) benign	1 lab	1448b87c75
17:73626921 RECQL5 T>TG	17	73626921	73626933	T	TG	RECQL5	c.1586-5dup	NM_004259.7	NP_004250.4:p.?	NC_000017.10:g.73626933dup	(Likely) benign	1 lab	144bee51cc
5:141324966 PCDH12 T>TGCTGCTGCTGCTGCC	5	141324966	141324975	T	TGCTGCTGCTGCTGCC	PCDH12	c.3534_3535insGGCAGCAGCAGCAGC	NM_016580.4	NP_057664.1:p.(Ser1178_Ser1179insGlySerSerSerSer)	NC_000005.9:g.141324974_141324975insTGCTGCCGCTGCTGC	VUS	1 lab	144dead1fe
19:42880062 MEGF8 C>T	19	42880062	42880062	C	T	MEGF8	c.7673C>T	NM_001271938.2	NP_001258867.1:p.(Pro2558Leu)	NC_000019.9:g.42880062C>T	(Likely) benign	1 lab	144f280c1b
1:147381379 GJA8 G>C	1	147381379	147381379	G	C	GJA8	c.1297G>C	NM_005267.5	NP_005258.2:p.(Val433Leu)	NC_000001.10:g.147381379G>C	(Likely) benign	1 lab	144f9bff8d
12:32860343 DNM1L A>T	12	32860343	32860343	A	T	DNM1L	c.293A>T	NM_012062.5	NP_036192.2:p.(Asn98Ile)	NC_000012.11:g.32860343A>T	VUS	1 lab	14557136f2
6:131902488 ARG1 A>ATCTT	6	131902488	131902494	A	ATCTT	ARG1	c.438_441dup	NM_000045.4	NP_000036.2:p.(Leu148PhefsTer50)	NC_000006.11:g.131902491_131902494dup	(Likely) pathogenic	1 lab	1457487a60
12:133226340 POLE C>T	12	133226340	133226340	C	T	POLE	c.3718G>A	NM_006231.4	NP_006222.2:p.(Glu1240Lys)	NC_000012.11:g.133226340C>T	VUS	1 lab	145be131bb
17:80393680 HEXD G>A	17	80393680	80393680	G	A	HEXD	c.563G>A	NM_001330542.2	NP_001317471.1:p.(Arg188Gln)	NC_000017.10:g.80393680G>A	(Likely) benign	1 lab	145c1e73c0
2:166626804 GALNT3 T>C	2	166626804	166626804	T	C	GALNT3	c.407A>G	NM_004482.4	NP_004473.2:p.(Glu136Gly)	NC_000002.11:g.166626804T>C	(Likely) benign	1 lab	145c5b1db1
17:78064064 CCDC40 G>T	17	78064064	78064064	G	T	CCDC40	c.2832+381G>T	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064064G>T	(Likely) benign	1 lab	145fe994b6
8:94800068 TMEM67 A>G	8	94800068	94800068	A	G	TMEM67	c.1413-4A>G	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94800068A>G	VUS	1 lab	1461afa7c4
2:206023538 PARD3B CG>C	2	206023538	206023542	CG	C	PARD3B	c.1531del	NM_001302769.2	NP_001289698.1:p.(Val511Ter)	NC_000002.11:g.206023542del	VUS	1 lab	1463d5f4a9
9:35090170 PIGO C>T	9	35090170	35090170	C	T	PIGO	c.2962G>A	NM_032634.4	NP_116023.2:p.(Glu988Lys)	NC_000009.11:g.35090170C>T	VUS	1 lab	14650e04ac
7:40118369 CDK13 C>T	7	40118369	40118369	C	T	CDK13	c.2948C>T	NM_003718.5	NP_003709.3:p.(Pro983Leu)	NC_000007.13:g.40118369C>T	(Likely) pathogenic	1 lab	1465bbca66
15:99500577 IGF1R G>A	15	99500577	99500577	G	A	IGF1R	c.4010G>A	NM_000875.5	NP_000866.1:p.(Arg1337His)	NC_000015.9:g.99500577G>A	VUS	1 lab	1466f00931
X:75649207 MAGEE1 C>T	X	75649207	75649207	C	T	MAGEE1	c.884C>T	NM_020932.3	NP_065983.1:p.(Ser295Phe)	NC_000023.10:g.75649207C>T	(Likely) benign	1 lab	1467388a35
3:47164351 SETD2 G>T	3	47164351	47164351	G	T	SETD2	c.1775C>A	NM_014159.7	NP_054878.5:p.(Thr592Lys)	NC_000003.11:g.47164351G>T	VUS	1 lab	1467817ea4
18:24496944 CHST9 G>C	18	24496944	24496944	G	C	CHST9	c.611C>G	NM_031422.6	NP_113610.2:p.(Ser204Cys)	NC_000018.9:g.24496944G>C	VUS	1 lab	1467e99d40
21:46900615 COL18A1 G>T	21	46900615	46900615	G	T	COL18A1	c.1454G>T	NM_001379500.1	NP_001366429.1:p.(Gly485Val)	NC_000021.8:g.46900615G>T	VUS	1 lab	1468bbb619
18:21141449 NPC1 T>A	18	21141449	21141449	T	A	NPC1	c.506A>T	NM_000271.5	NP_000262.2:p.(Asn169Ile)	NC_000018.9:g.21141449T>A	(Likely) pathogenic	1 lab	1468e4bd5c
3:46620757 CRIPTO G>A	3	46620757	46620757	G	A	CRIPTO	c.124G>A	NM_003212.4	NP_003203.1:p.(Gly42Arg)	NC_000003.11:g.46620757G>A	(Likely) benign	1 lab	1469427203
15:40505605 BUB1B G>A	15	40505605	40505605	G	A	BUB1B	c.2608G>A	NM_001211.6	NP_001202.5:p.(Val870Met)	NC_000015.9:g.40505605G>A	VUS	1 lab	146bf7ff27
13:95034732 GPC6 T>C	13	95034732	95034732	T	C	GPC6	c.1217T>C	NM_005708.5	NP_005699.1:p.(Ile406Thr)	NC_000013.10:g.95034732T>C	VUS	1 lab	14707a3e44
17:76464971 DNAH17 C>T	17	76464971	76464971	C	T	DNAH17	c.8512-6G>A	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76464971C>T	(Likely) benign	1 lab	14712f068f
11:17448719 ABCC8 G>T	11	17448719	17448719	G	T	ABCC8	c.2117-18C>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17448719G>T	(Likely) benign	1 lab	1471f510d4
X:152860086 CCNQ T>C	X	152860086	152860086	T	C	CCNQ	c.348A>G	NM_152274.5	NP_689487.2:p.(Glu116=)	NC_000023.10:g.152860086T>C	VUS	1 lab	1473ae83b9
9:34660927 IL11RA C>T	9	34660927	34660927	C	T	IL11RA	c.1246C>T	NM_001142784.3	NP_001136256.1:p.(Arg416Cys)	NC_000009.11:g.34660927C>T	(Likely) benign	1 lab	14751832cd
X:114424734 RBMXL3 C>T	X	114424734	114424734	C	T	RBMXL3	c.730C>T	NM_001145346.2	NP_001138818.1:p.(Pro244Ser)	NC_000023.10:g.114424734C>T	(Likely) benign	1 lab	1475434f25
7:107572622 LAMB1 C>G	7	107572622	107572622	C	G	LAMB1	c.4389G>C	NM_002291.3	NP_002282.2:p.(Lys1463Asn)	NC_000007.13:g.107572622C>G	VUS	1 lab	1476083e05
8:21981188 HR C>T	8	21981188	21981188	C	T	HR	c.1889G>A	NM_005144.5	NP_005135.2:p.(Gly630Asp)	NC_000008.10:g.21981188C>T	VUS	1 lab	14760cd458
4:81207512 FGF5 C>T	4	81207512	81207512	C	T	FGF5	c.493C>T	NM_004464.4	NP_004455.2:p.(Arg165Cys)	NC_000004.11:g.81207512C>T	(Likely) benign	1 lab	14785cab5d
5:159992624 ATP10B T>A	5	159992624	159992624	T	A	ATP10B	c.4222A>T	NM_025153.3	NP_079429.2:p.(Met1408Leu)	NC_000005.9:g.159992624T>A	VUS	1 lab	1479a43f7e
19:52693392 PPP2R1A G>C	19	52693392	52693392	G	C	PPP2R1A	c.43G>C	NM_014225.6	NP_055040.2:p.(Val15Leu)	NC_000019.9:g.52693392G>C	(Likely) benign	1 lab	147c4f1039
12:402118 KDM5A T>A	12	402118	402118	T	A	KDM5A	c.4673A>T	NM_001042603.3	NP_001036068.1:p.(Glu1558Val)	NC_000012.11:g.402118T>A	(Likely) benign	1 lab	147d0e9ba7
3:55508585 WNT5A C>T	3	55508585	55508585	C	T	WNT5A	c.464G>A	NM_003392.7	NP_003383.4:p.(Arg155His)	NC_000003.11:g.55508585C>T	VUS	1 lab	147da1d3c3
1:234614471 TARBP1 C>G	1	234614471	234614471	C	G	TARBP1	c.379G>C	NM_005646.4	NP_005637.3:p.(Asp127His)	NC_000001.10:g.234614471C>G	(Likely) benign	1 lab	147dc65a20
2:42995018 HAAO G>C	2	42995018	42995018	G	C	HAAO	c.681C>G	NM_012205.3	NP_036337.2:p.(Asp227Glu)	NC_000002.11:g.42995018G>C	VUS	1 lab	147f36995d
7:21639540 DNAH11 G>A	7	21639540	21639540	G	A	DNAH11	c.2803G>A	NM_001277115.2	NP_001264044.1:p.(Glu935Lys)	NC_000007.13:g.21639540G>A	(Likely) benign	1 lab	147fa68312
10:95113586 MYOF C>T	10	95113586	95113586	C	T	MYOF	c.3463G>A	NM_013451.4	NP_038479.1:p.(Asp1155Asn)	NC_000010.10:g.95113586C>T	VUS	1 lab	148532627e
5:113826782 KCNN2 G>C	5	113826782	113826782	G	C	KCNN2	c.2019-2318G>C	NM_021614.4	NP_067627.3:p.?	NC_000005.9:g.113826782G>C	(Likely) benign	1 lab	1485b03796
15:51260533 AP4E1 C>T	15	51260533	51260533	C	T	AP4E1	c.1925C>T	NM_007347.5	NP_031373.2:p.(Pro642Leu)	NC_000015.9:g.51260533C>T	VUS	1 lab	1485ccb056
2:219498340 ZNF142 A>C	2	219498340	219498340	A	C	ZNF142	c.*4722T>G	NM_001379659.1	NP_001366588.1:p.?	NC_000002.11:g.219498340A>C	(Likely) benign	1 lab	1487a2ee88
6:33652460 ITPR3 G>A	6	33652460	33652460	G	A	ITPR3	c.5132G>A	NM_002224.4	NP_002215.2:p.(Gly1711Asp)	NC_000006.11:g.33652460G>A	(Likely) benign	1 lab	1a7256fe14
16:88923593 TRAPPC2L T>G	16	88923593	88923593	T	G	TRAPPC2L	c.33+2T>G	NM_001318525.2	NP_001305454.1:p.?	NC_000016.9:g.88923593T>G	(Likely) pathogenic	1 lab	1488940af8
16:14647911 PARN T>G	16	14647911	14647911	T	G	PARN	c.1405+11A>C	NM_002582.4	NP_002573.1:p.?	NC_000016.9:g.14647911T>G	(Likely) benign	1 lab	1adb6e9141
17:48649928 CACNA1G G>A	17	48649928	48649928	G	A	CACNA1G	c.760G>A	NM_018896.5	NP_061496.2:p.(Asp254Asn)	NC_000017.10:g.48649928G>A	VUS	1 lab	148a47a250
17:34171635 TAF15 CGGCTATGGTGGAGACAGAAGTGGGGGT>C	17	34171635	34171673	CGGCTATGGTGGAGACAGAAGTGGGGGT	C	TAF15	c.1344_1370del	NM_139215.3	NP_631961.1:p.(Ser451_Arg459del)	NC_000017.10:g.34171647_34171673del	VUS	1 lab	1a748f11c7
7:75615319 POR C>T	7	75615319	75615319	C	T	POR	c.1748C>T	NM_000941.3	NP_000932.3:p.(Ala583Val)	NC_000007.13:g.75615319C>T	(Likely) benign	1 lab	148c23880b
7:128049904 IMPDH1 C>T	7	128049904	128049904	C	T	IMPDH1	c.52G>A	NM_000883.4	NP_000874.2:p.(Val18Ile)	NC_000007.13:g.128049904C>T	(Likely) benign	1 lab	148c7f5e2f
2:10584694 ODC1 C>T	2	10584694	10584694	C	T	ODC1	c.182G>A	NM_002539.3	NP_002530.1:p.(Arg61His)	NC_000002.11:g.10584694C>T	VUS	1 lab	148ed4c982
1:27124222 PIGV C>T	1	27124222	27124222	C	T	PIGV	c.1369C>T	NM_017837.4	NP_060307.2:p.(Leu457Phe)	NC_000001.10:g.27124222C>T	VUS	1 lab	14901e7fb8
X:70325877 CXorf65 C>T	X	70325877	70325877	C	T	CXorf65	c.223G>A	NM_001025265.3	NP_001020436.1:p.(Val75Ile)	NC_000023.10:g.70325877C>T	(Likely) benign	1 lab	1492e22d85
11:17409548 KCNJ11 G>A	11	17409548	17409548	G	A	KCNJ11	c.91C>T	NM_000525.4	NP_000516.3:p.(Arg31Trp)	NC_000011.9:g.17409548G>A	VUS	1 lab	14946bc4a6
2:178097997 NFE2L2 G>A	2	178097997	178097997	G	A	NFE2L2	c.383C>T	NM_006164.5	NP_006155.2:p.(Pro128Leu)	NC_000002.11:g.178097997G>A	VUS	1 lab	14959036b5
8:94772179 TMEM67 G>T	8	94772179	94772179	G	T	TMEM67	c.406+1375G>T	NM_153704.6	NP_714915.3:p.?	NC_000008.10:g.94772179G>T	(Likely) benign	1 lab	1495f0deae
19:40748533 AKT2 C>T	19	40748533	40748533	C	T	AKT2	c.349G>A	NM_001626.6	NP_001617.1:p.(Glu117Lys)	NC_000019.9:g.40748533C>T	(Likely) benign	1 lab	14a682916c
6:157100015 ARID1B G>GGAGGCGGCGGAGGAGGAC	6	157100015	157100021	G	GGAGGCGGCGGAGGAGGAC	ARID1B	c.1206_1207insGGCGGAGGAGGACGAGGC	NM_001374828.1	NP_001361757.1:p.(Gly402_Ser403insGlyGlyGlyGlyArgGly)	NC_000006.11:g.157100020_157100021insGGCGGAGGAGGACGAGGC	(Likely) pathogenic	1 lab	14961d089c
19:15291039 NOTCH3 C>T	19	15291039	15291039	C	T	NOTCH3	c.3171G>A	NM_000435.3	NP_000426.2:p.(Ala1057=)	NC_000019.9:g.15291039C>T	(Likely) benign	1 lab	14989dc38a
17:27818873 TAOK1 A>G	17	27818873	27818873	A	G	TAOK1	c.821A>G	NM_020791.4	NP_065842.1:p.(Glu274Gly)	NC_000017.10:g.27818873A>G	VUS	1 lab	149b82a432
7:139715599 TBXAS1 G>A	7	139715599	139715599	G	A	TBXAS1	c.1303G>A	NM_001061.7	NP_001052.3:p.(Val435Met)	NC_000007.13:g.139715599G>A	VUS	1 lab	149b889ad7
4:1803632 FGFR3 C>T	4	1803632	1803632	C	T	FGFR3	c.810C>T	NM_000142.5	NP_000133.1:p.(Asp270=)	NC_000004.11:g.1803632C>T	(Likely) benign	1 lab	149d39f51f
9:108382294 FKTN A>T	9	108382294	108382294	A	T	FKTN	c.1124A>T	NM_001079802.2	NP_001073270.1:p.(Asp375Val)	NC_000009.11:g.108382294A>T	VUS	1 lab	1a781cd01c
1:173802583 DARS2 C>T	1	173802583	173802583	C	T	DARS2	c.562C>T	NM_018122.5	NP_060592.2:p.(Arg188Ter)	NC_000001.10:g.173802583C>T	(Likely) pathogenic	1 lab	149f541206
2:171702114 GAD1 C>T	2	171702114	171702114	C	T	GAD1	c.850C>T	NM_000817.3	NP_000808.2:p.(Leu284Phe)	NC_000002.11:g.171702114C>T	VUS	1 lab	149f98284a
15:43360142 UBR1 C>A	15	43360142	43360142	C	A	UBR1	c.752G>T	NM_174916.3	NP_777576.1:p.(Cys251Phe)	NC_000015.9:g.43360142C>A	VUS	1 lab	14a2262ea1
17:7810944 CHD3 G>C	17	7810944	7810944	G	C	CHD3	c.4950G>C	NM_001005273.3	NP_001005273.1:p.(Arg1650Ser)	NC_000017.10:g.7810944G>C	(Likely) benign	1 lab	14a2c0c131
16:3778390 CREBBP C>T	16	3778390	3778390	C	T	CREBBP	c.6658G>A	NM_004380.3	NP_004371.2:p.(Gly2220Ser)	NC_000016.9:g.3778390C>T	(Likely) benign	1 lab	14a35b55a2
11:117860326 IL10RA G>A	11	117860326	117860326	G	A	IL10RA	c.358G>A	NM_001558.3	NP_001549.2:p.(Val120Met)	NC_000011.9:g.117860326G>A	(Likely) benign	1 lab	1aded5e3fb
10:89468985 PAPSS2 T>C	10	89468985	89468985	T	C	PAPSS2	c.60T>C	NM_001015880.2	NP_001015880.1:p.(Tyr20=)	NC_000010.10:g.89468985T>C	(Likely) benign	1 lab	14a4bce1e5
3:46492135 LTF G>T	3	46492135	46492135	G	T	LTF	c.732C>A	NM_002343.6	NP_002334.2:p.(Asp244Glu)	NC_000003.11:g.46492135G>T	VUS	1 lab	14a4f6b231
1:39893278 MACF1 C>T	1	39893278	39893278	C	T	MACF1	c.16468C>T	NM_001394062.1	NP_001380991.1:p.(Arg5490Trp)	NC_000001.10:g.39893278C>T	VUS	1 lab	14a7c46950
20:58180125 PHACTR3 G>A	20	58180125	58180125	G	A	PHACTR3	c.56G>A	NM_080672.5	NP_542403.1:p.(Ser19Asn)	NC_000020.10:g.58180125G>A	VUS	1 lab	14a9a32a61
6:10877397 GCM2 C>T	6	10877397	10877397	C	T	GCM2	c.319G>A	NM_004752.4	NP_004743.1:p.(Asp107Asn)	NC_000006.11:g.10877397C>T	VUS	1 lab	14aa0eb641
2:219922250 IHH T>C	2	219922250	219922250	T	C	IHH	c.482A>G	NM_002181.4	NP_002172.2:p.(Asn161Ser)	NC_000002.11:g.219922250T>C	VUS	1 lab	14aaa222d7
2:219922404 IHH G>C	2	219922404	219922404	G	C	IHH	c.328C>G	NM_002181.4	NP_002172.2:p.(Arg110Gly)	NC_000002.11:g.219922404G>C	VUS	1 lab	14aae7d726
X:123210176 STAG2 C>A	X	123210176	123210176	C	A	STAG2	c.2534-6C>A	NM_001042750.2	NP_001036215.1:p.?	NC_000023.10:g.123210176C>A	(Likely) benign	1 lab	14ac54a7c8
19:39033988 RYR1 T>C	19	39033988	39033988	T	C	RYR1	c.11691T>C	NM_000540.3	NP_000531.2:p.(Asp3897=)	NC_000019.9:g.39033988T>C	VUS	1 lab	14ae5641be
1:152276282 FLG C>G	1	152276282	152276282	C	G	FLG	c.11080G>C	NM_002016.2	NP_002007.1:p.(Glu3694Gln)	NC_000001.10:g.152276282C>G	(Likely) benign	1 lab	14b1ad6235
X:49113929 FOXP3 C>T	X	49113929	49113929	C	T	FOXP3	c.409G>A	NM_014009.4	NP_054728.2:p.(Ala137Thr)	NC_000023.10:g.49113929C>T	VUS	1 lab	14b1fabd95
19:35250148 ZNF599 CA>C	19	35250148	35250149	CA	C	ZNF599	c.1557del	NM_001007248.3	NP_001007249.1:p.(Ala520GlnfsTer31)	NC_000019.9:g.35250149del	VUS	1 lab	14b5fdd116
4:184622936 TRAPPC11 G>A	4	184622936	184622936	G	A	TRAPPC11	c.2938G>A	NM_021942.6	NP_068761.4:p.(Gly980Arg)	NC_000004.11:g.184622936G>A	(Likely) pathogenic	1 lab	14b6391bc1
6:117198511 RFX6 C>T	6	117198511	117198511	C	T	RFX6	c.73C>T	NM_173560.4	NP_775831.2:p.(Gln25Ter)	NC_000006.11:g.117198511C>T	(Likely) pathogenic	1 lab	14b72582b3
17:63554539 AXIN2 C>T	17	63554539	63554539	C	T	AXIN2	c.200G>A	NM_004655.4	NP_004646.3:p.(Gly67Glu)	NC_000017.10:g.63554539C>T	VUS	1 lab	14b729d2cb
2:173435494 PDK1 G>A	2	173435494	173435494	G	A	PDK1	c.887G>A	NM_002610.5	NP_002601.1:p.(Gly296Asp)	NC_000002.11:g.173435494G>A	VUS	1 lab	14b7fb5117
2:201950249 NDUFB3 G>T	2	201950249	201950249	G	T	NDUFB3	c.208G>T	NM_002491.3	NP_002482.1:p.(Gly70Ter)	NC_000002.11:g.201950249G>T	(Likely) pathogenic	1 lab	14b82ce414
7:5569038 ACTB A>T	7	5569038	5569038	A	T	ACTB	c.124-7T>A	NM_001101.5	NP_001092.1:p.?	NC_000007.13:g.5569038A>T	(Likely) benign	1 lab	14b87b497a
15:40509781 BUB1B G>C	15	40509781	40509781	G	C	BUB1B	c.2763G>C	NM_001211.6	NP_001202.5:p.(Gln921His)	NC_000015.9:g.40509781G>C	VUS	1 lab	14ba215222
16:347904 AXIN1 G>T	16	347904	347904	G	T	AXIN1	c.1602C>A	NM_003502.4	NP_003493.1:p.(His534Gln)	NC_000016.9:g.347904G>T	(Likely) benign	1 lab	14ba3abd1c
9:91961850 SECISBP2 C>T	9	91961850	91961850	C	T	SECISBP2	c.1489C>T	NM_024077.5	NP_076982.3:p.(Arg497Cys)	NC_000009.11:g.91961850C>T	VUS	1 lab	14ba5da4c5
3:186917806 RTP1 C>T	3	186917806	186917806	C	T	RTP1	c.740C>T	NM_153708.3	NP_714919.2:p.(Thr247Met)	NC_000003.11:g.186917806C>T	VUS	1 lab	14bb4b2e29
3:30713364 TGFBR2 C>T	3	30713364	30713364	C	T	TGFBR2	c.689C>T	NM_003242.6	NP_003233.4:p.(Thr230Met)	NC_000003.11:g.30713364C>T	VUS	1 lab	14bd75c379
12:56091594 ITGA7 C>T	12	56091594	56091594	C	T	ITGA7	c.1294G>A	NM_002206.3	NP_002197.2:p.(Glu432Lys)	NC_000012.11:g.56091594C>T	(Likely) benign	1 lab	14bdd2ec5e
1:155408609 ASH1L G>C	1	155408609	155408609	G	C	ASH1L	c.5337C>G	NM_018489.3	NP_060959.2:p.(Ile1779Met)	NC_000001.10:g.155408609G>C	(Likely) benign	1 lab	14bef856be
1:64672446 UBE2U G>C	1	64672446	64672446	G	C	UBE2U	c.149-1G>C	NM_001366232.2	NP_001353161.1:p.?	NC_000001.10:g.64672446G>C	VUS	1 lab	14c0201067
12:121434401 HNF1A T>G	12	121434401	121434401	T	G	HNF1A	c.1165T>G	NM_000545.8	NP_000536.6:p.(Leu389Val)	NC_000012.11:g.121434401T>G	(Likely) benign	1 lab	14c0c4f71a
13:95847168 ABCC4 T>C	13	95847168	95847168	T	C	ABCC4	c.1185A>G	NM_005845.5	NP_005836.2:p.(Ile395Met)	NC_000013.10:g.95847168T>C	VUS	1 lab	14c16a38a5
16:1259297 CACNA1H C>T	16	1259297	1259297	C	T	CACNA1H	c.3629C>T	NM_021098.3	NP_066921.2:p.(Pro1210Leu)	NC_000016.9:g.1259297C>T	(Likely) benign	1 lab	14c288f048
4:81283979 CFAP299 T>G	4	81283979	81283979	T	G	CFAP299	c.183T>G	NM_152770.3	NP_689983.2:p.(Asp61Glu)	NC_000004.11:g.81283979T>G	VUS	1 lab	14c3eeb737
1:152278768 FLG G>GCC	1	152278768	152278770	G	GCC	FLG	c.8593_8594insGG	NM_002016.2	NP_002007.1:p.(Ala2865GlyfsTer28)	NC_000001.10:g.152278769_152278770insCC	(Likely) benign	1 lab	14c40bf7c8
1:223163963 DISP1 G>T	1	223163963	223163963	G	T	DISP1	c.540-4G>T	NM_001377229.1	NP_001364158.1:p.?	NC_000001.10:g.223163963G>T	(Likely) benign	1 lab	14c4a1230d
22:36701144 MYH9 C>G	22	36701144	36701144	C	G	MYH9	c.2164G>C	NM_002473.6	NP_002464.1:p.(Glu722Gln)	NC_000022.10:g.36701144C>G	VUS	1 lab	14c4e6a381
1:22168823 HSPG2 G>A	1	22168823	22168823	G	A	HSPG2	c.8961C>T	NM_005529.7	NP_005520.4:p.(Gly2987=)	NC_000001.10:g.22168823G>A	VUS	1 lab	14cc31b936
21:47754449 PCNT GGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCA>G	21	47754449	47754509	GGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGTCA	G	PCNT	c.428_466del	NM_006031.6	NP_006022.3:p.(Arg143_Gln155del)	NC_000021.8:g.47754471_47754509del	VUS	1 lab	14c5397651
12:13716244 GRIN2B G>T	12	13716244	13716244	G	T	GRIN2B	c.3928C>A	NM_000834.5	NP_000825.2:p.(Leu1310Met)	NC_000012.11:g.13716244G>T	VUS	1 lab	1a79338752
12:112884129 PTPN11 A>G	12	112884129	112884129	A	G	PTPN11	c.64A>G	NM_002834.5	NP_002825.3:p.(Thr22Ala)	NC_000012.11:g.112884129A>G	VUS	1 lab	14c6711e68
18:60230244 ZCCHC2 A>G	18	60230244	60230244	A	G	ZCCHC2	c.1553A>G	NM_017742.6	NP_060212.4:p.(Asn518Ser)	NC_000018.9:g.60230244A>G	VUS	1 lab	14c68b5182
3:180328327 TTC14 T>A	3	180328327	180328327	T	A	TTC14	c.2310T>A	NM_133462.4	NP_597719.1:p.(Asn770Lys)	NC_000003.11:g.180328327T>A	(Likely) benign	1 lab	14c6e6657e
3:63981933 ATXN7 A>G	3	63981933	63981933	A	G	ATXN7	c.2435A>G	NM_001377405.1	NP_001364334.1:p.(Asn812Ser)	NC_000003.11:g.63981933A>G	(Likely) benign	1 lab	14c6f95417
3:121192193 POLQ G>A	3	121192193	121192193	G	A	POLQ	c.6543+4C>T	NM_199420.4	NP_955452.3:p.?	NC_000003.11:g.121192193G>A	VUS	1 lab	14c7ce1fe3
8:133175727 KCNQ3 TC>AT	8	133175727	133175728	TC	AT	KCNQ3	c.1249_1250delinsAT	NM_004519.4	NP_004510.1:p.(Glu417Met)	NC_000008.10:g.133175727_133175728delinsAT	(Likely) benign	1 lab	14c800d58c
17:48703587 CACNA1G C>A	17	48703587	48703587	C	A	CACNA1G	c.6609C>A	NM_018896.5	NP_061496.2:p.(Asn2203Lys)	NC_000017.10:g.48703587C>A	(Likely) benign	1 lab	14c81cee9e
5:176785039 RGS14 C>T	5	176785039	176785039	C	T	RGS14	c.14C>T	NM_006480.5	NP_006471.2:p.(Pro5Leu)	NC_000005.9:g.176785039C>T	(Likely) benign	1 lab	14c9d0eac5
1:154574076 ADAR T>C	1	154574076	154574076	T	C	ADAR	c.1042A>G	NM_001111.5	NP_001102.3:p.(Thr348Ala)	NC_000001.10:g.154574076T>C	VUS	1 lab	14c9d8ed23
2:121736022 GLI2 G>A	2	121736022	121736022	G	A	GLI2	c.1330G>A	NM_001374353.1	NP_001361282.1:p.(Glu444Lys)	NC_000002.11:g.121736022G>A	VUS	1 lab	14c9dd9b05
16:81388227 GAN C>G	16	81388227	81388227	C	G	GAN	c.500C>G	NM_022041.4	NP_071324.1:p.(Thr167Arg)	NC_000016.9:g.81388227C>G	VUS	1 lab	14ca4383db
11:6653889 DCHS1 G>A	11	6653889	6653889	G	A	DCHS1	c.2854C>T	NM_003737.4	NP_003728.1:p.(Leu952Phe)	NC_000011.9:g.6653889G>A	VUS	1 lab	14cb359943
12:65632371 LEMD3 C>G	12	65632371	65632371	C	G	LEMD3	c.1775+10C>G	NM_014319.5	NP_055134.2:p.?	NC_000012.11:g.65632371C>G	(Likely) benign	1 lab	14cbea59b1
1:118420590 GDAP2 TA>T	1	118420590	118420591	TA	T	GDAP2	c.1446+40del	NM_017686.4	NP_060156.1:p.?	NC_000001.10:g.118420591del	VUS	1 lab	14ccf0f402
15:89386852 ACAN T>C	15	89386852	89386852	T	C	ACAN	c.1024T>C	NM_001369268.1	NP_001356197.1:p.(Ser342Pro)	NC_000015.9:g.89386852T>C	VUS	1 lab	14cda01cf7
6:32800244 TAP2 A>T	6	32800244	32800244	A	T	TAP2	c.1144-6T>A	NM_001290043.2	NP_001276972.1:p.?	NC_000006.11:g.32800244A>T	VUS	1 lab	14cf4db5d0
1:156876596 PEAR1 C>T	1	156876596	156876596	C	T	PEAR1	c.568C>T	NM_001080471.3	NP_001073940.1:p.(Arg190Cys)	NC_000001.10:g.156876596C>T	(Likely) benign	1 lab	14d0160248
16:2168304 PKD1 C>T	16	2168304	2168304	C	T	PKD1	c.689G>A	NM_001009944.3	NP_001009944.3:p.(Cys230Tyr)	NC_000016.9:g.2168304C>T	(Likely) pathogenic	1 lab	14d0889fc6
8:118170031 SLC30A8 C>T	8	118170031	118170031	C	T	SLC30A8	c.520C>T	NM_173851.3	NP_776250.2:p.(Gln174Ter)	NC_000008.10:g.118170031C>T	VUS	1 lab	14d260265a
20:5937870 MCM8 T>C	20	5937870	5937870	T	C	MCM8	c.585T>C	NM_032485.6	NP_115874.3:p.(His195=)	NC_000020.10:g.5937870T>C	(Likely) benign	1 lab	14d2f65e86
8:133492721 KCNQ3 C>CCGCCCCCGT	8	133492721	133492734	C	CCGCCCCCGT	KCNQ3	c.50_58dup	NM_004519.4	NP_004510.1:p.(Asp17_Gly19dup)	NC_000008.10:g.133492726_133492734dup	VUS	1 lab	14d2fba90e
8:41530181 ANK1 G>C	8	41530181	41530181	G	C	ANK1	c.4787C>G	NM_000037.4	NP_000028.3:p.(Thr1596Arg)	NC_000008.10:g.41530181G>C	VUS	1 lab	14d37f6240
19:15289934 NOTCH3 T>C	19	15289934	15289934	T	C	NOTCH3	c.3620A>G	NM_000435.3	NP_000426.2:p.(Asn1207Ser)	NC_000019.9:g.15289934T>C	VUS	1 lab	14d5921304
17:1399419 INPP5K C>CA	17	1399419	1399420	C	CA	INPP5K	c.1224dup	NM_016532.4	NP_057616.2:p.(Glu409Ter)	NC_000017.10:g.1399420dup	VUS	1 lab	14d5c28dca
12:13240872 GSG1 G>A	12	13240872	13240872	G	A	GSG1	c.603C>T	NM_001080555.4	NP_001074024.1:p.(Ser201=)	NC_000012.11:g.13240872G>A	VUS	1 lab	14d6d88314
1:154229695 UBAP2L G>C	1	154229695	154229695	G	C	UBAP2L	c.2314G>C	NM_014847.4	NP_055662.3:p.(Val772Leu)	NC_000001.10:g.154229695G>C	(Likely) benign	1 lab	14d702aa8c
16:11944199 RSL1D1 T>C	16	11944199	11944199	T	C	RSL1D1	c.182A>G	NM_015659.3	NP_056474.2:p.(Asn61Ser)	NC_000016.9:g.11944199T>C	VUS	1 lab	14d9ab853c
19:44376765 ZNF404 T>A	19	44376765	44376765	T	A	ZNF404	c.1601A>T	NM_001033719.3	NP_001028891.2:p.(His534Leu)	NC_000019.9:g.44376765T>A	(Likely) benign	1 lab	14d9e039a5
19:55648502 TNNT1 C>T	19	55648502	55648502	C	T	TNNT1	c.580G>A	NM_003283.6	NP_003274.3:p.(Asp194Asn)	NC_000019.9:g.55648502C>T	VUS	1 lab	14da837d8f
9:35800424 NPR2 C>T	9	35800424	35800424	C	T	NPR2	c.1162C>T	NM_003995.4	NP_003986.2:p.(Arg388Ter)	NC_000009.11:g.35800424C>T	(Likely) pathogenic	1 lab	14daf90342
20:9374311 PLCB4 C>T	20	9374311	9374311	C	T	PLCB4	c.1400C>T	NM_001377142.1	NP_001364071.1:p.(Pro467Leu)	NC_000020.10:g.9374311C>T	VUS	1 lab	14db37a8b2
12:51112489 DIP2B C>T	12	51112489	51112489	C	T	DIP2B	c.2852-3C>T	NM_173602.3	NP_775873.2:p.?	NC_000012.11:g.51112489C>T	(Likely) benign	1 lab	14db8e3f11
2:74689663 MOGS TC>T	2	74689663	74689665	TC	T	MOGS	c.1252del	NM_006302.3	NP_006293.2:p.(Glu418LysfsTer61)	NC_000002.11:g.74689665del	VUS	1 lab	14dc4c8d03
21:46916474 COL18A1 G>A	21	46916474	46916474	G	A	COL18A1	c.2569G>A	NM_001379500.1	NP_001366429.1:p.(Asp857Asn)	NC_000021.8:g.46916474G>A	VUS	1 lab	1a7b9a87c1
2:109369987 RANBP2 A>G	2	109369987	109369987	A	G	RANBP2	c.2023A>G	NM_006267.5	NP_006258.3:p.(Lys675Glu)	NC_000002.11:g.109369987A>G	(Likely) benign	1 lab	14dd0c9ea2
9:14770594 FREM1 G>A	9	14770594	14770594	G	A	FREM1	c.5059+9C>T	NM_001379081.2	NP_001366010.1:p.?	NC_000009.11:g.14770594G>A	(Likely) benign	1 lab	14de38bd3e
4:103644180 MANBA C>A	4	103644180	103644180	C	A	MANBA	c.397G>T	NM_005908.4	NP_005899.3:p.(Val133Leu)	NC_000004.11:g.103644180C>A	VUS	1 lab	14df22b65f
2:238303649 COL6A3 C>T	2	238303649	238303649	C	T	COL6A3	c.290G>A	NM_004369.4	NP_004360.2:p.(Arg97His)	NC_000002.11:g.238303649C>T	(Likely) benign	1 lab	14dfa765d3
19:55895539 TMEM238 C>A	19	55895539	55895539	C	A	TMEM238	c.89G>T	NM_001190764.2	NP_001177693.1:p.(Gly30Val)	NC_000019.9:g.55895539C>A	(Likely) benign	1 lab	14e03a4090
4:170523838 NEK1 AAAGAT>A	4	170523838	170523845	AAAGAT	A	NEK1	c.-48-14_-48-10del	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170523841_170523845del	(Likely) benign	1 lab	14e08f7a4f
6:87971491 ZNF292 G>T	6	87971491	87971491	G	T	ZNF292	c.8144G>T	NM_015021.3	NP_055836.1:p.(Gly2715Val)	NC_000006.11:g.87971491G>T	(Likely) benign	1 lab	14e1edffaa
3:113505104 ATP6V1A A>G	3	113505104	113505104	A	G	ATP6V1A	c.590A>G	NM_001690.4	NP_001681.2:p.(Glu197Gly)	NC_000003.11:g.113505104A>G	VUS	1 lab	14e2829021
6:29640676 ZFP57 C>T	6	29640676	29640676	C	T	ZFP57	c.1212G>A	NM_001109809.5	NP_001103279.2:p.(Lys404=)	NC_000006.11:g.29640676C>T	(Likely) benign	1 lab	14e7340796
3:48630370 COL7A1 C>T	3	48630370	48630370	C	T	COL7A1	c.684G>A	NM_000094.4	NP_000085.1:p.(Pro228=)	NC_000003.11:g.48630370C>T	VUS	1 lab	14eb44fedb
6:56482921 DST CAA>C	6	56482921	56482925	CAA	C	DST	c.5909_5910del	NM_001723.7	NP_001714.1:p.(Phe1970Ter)	NC_000006.11:g.56482924_56482925del	(Likely) pathogenic	1 lab	1a7ce28c51
14:73729154 PAPLN G>A	14	73729154	73729154	G	A	PAPLN	c.2342G>A	NM_001365906.3	NP_001352835.1:p.(Arg781His)	NC_000014.8:g.73729154G>A	VUS	1 lab	14f184a11f
2:25523109 DNMT3A C>T	2	25523109	25523109	C	T	DNMT3A	c.76G>A	NM_022552.5	NP_072046.2:p.(Gly26Arg)	NC_000002.11:g.25523109C>T	(Likely) benign	1 lab	14f2f474b1
11:45832881 SLC35C1 G>A	11	45832881	45832881	G	A	SLC35C1	c.1090G>A	NM_018389.5	NP_060859.4:p.(Val364Met)	NC_000011.9:g.45832881G>A	VUS	1 lab	14f5fa2cef
15:75676753 SIN3A A>G	15	75676753	75676753	A	G	SIN3A	c.3047T>C	NM_001145358.2	NP_001138830.1:p.(Ile1016Thr)	NC_000015.9:g.75676753A>G	(Likely) benign	1 lab	14fad47e3f
9:37729839 FRMPD1 C>T	9	37729839	37729839	C	T	FRMPD1	c.727C>T	NM_014907.3	NP_055722.2:p.(Leu243Phe)	NC_000009.11:g.37729839C>T	VUS	1 lab	14fc02ee1d
19:38954687 RYR1 C>T	19	38954687	38954687	C	T	RYR1	c.2786+197C>T	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38954687C>T	(Likely) benign	1 lab	14fd0f9b7c
14:102973955 ANKRD9 A>C	14	102973955	102973955	A	C	ANKRD9	c.272T>G	NM_152326.4	NP_689539.1:p.(Leu91Arg)	NC_000014.8:g.102973955A>C	VUS	1 lab	14fd745259
17:79985920 LRRC45 G>A	17	79985920	79985920	G	A	LRRC45	c.945G>A	NM_144999.4	NP_659436.1:p.(Ser315=)	NC_000017.10:g.79985920G>A	(Likely) benign	1 lab	14fe147d86
1:16375601 CLCNKB A>T	1	16375601	16375601	A	T	CLCNKB	c.656-14A>T	NM_000085.5	NP_000076.2:p.?	NC_000001.10:g.16375601A>T	(Likely) benign	1 lab	14fe4f9890
14:33291122 AKAP6 G>T	14	33291122	33291122	G	T	AKAP6	c.4103G>T	NM_004274.5	NP_004265.3:p.(Ser1368Ile)	NC_000014.8:g.33291122G>T	VUS	1 lab	14fe5f302f
6:157528157 ARID1B A>T	6	157528157	157528157	A	T	ARID1B	c.6251A>T	NM_001374828.1	NP_001361757.1:p.(Asn2084Ile)	NC_000006.11:g.157528157A>T	VUS	1 lab	14ff275cc7
9:13150553 MPDZ G>C	9	13150553	13150553	G	C	MPDZ	c.3587C>G	NM_001378778.1	NP_001365707.1:p.(Ala1196Gly)	NC_000009.11:g.13150553G>C	VUS	1 lab	14ff4d2516
8:101245631 SPAG1 T>C	8	101245631	101245631	T	C	SPAG1	c.1989-8T>C	NM_003114.5	NP_003105.2:p.?	NC_000008.10:g.101245631T>C	(Likely) benign	1 lab	15028df598
6:107110896 QRSL1 G>A	6	107110896	107110896	G	A	QRSL1	c.1202G>A	NM_018292.5	NP_060762.3:p.(Arg401His)	NC_000006.11:g.107110896G>A	VUS	1 lab	15041c516a
X:3248734 MXRA5 T>C	X	3248734	3248734	T	C	MXRA5	c.269A>G	NM_015419.4	NP_056234.2:p.(Glu90Gly)	NC_000023.10:g.3248734T>C	(Likely) benign	1 lab	150577cf89
5:127666348 FBN2 A>T	5	127666348	127666348	A	T	FBN2	c.4262T>A	NM_001999.4	NP_001990.2:p.(Ile1421Asn)	NC_000005.9:g.127666348A>T	VUS	1 lab	1505a69d21
16:3814501 CREBBP G>T	16	3814501	3814501	G	T	CREBBP	c.3250+3220C>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3814501G>T	(Likely) benign	1 lab	15066c0c8b
15:45426348 DUOX1 C>T	15	45426348	45426348	C	T	DUOX1	c.148C>T	NM_175940.3	NP_787954.1:p.(Arg50Trp)	NC_000015.9:g.45426348C>T	VUS	1 lab	15078cb4e7
2:152432672 NEB A>G	2	152432672	152432672	A	G	NEB	c.16901T>C	NM_001164508.2	NP_001157980.2:p.(Ile5634Thr)	NC_000002.11:g.152432672A>G	VUS	1 lab	150940dbaa
X:128977665 ZDHHC9 T>C	X	128977665	128977665	T	C	ZDHHC9	c.-204+7A>G	NM_016032.4	NP_057116.2:p.?	NC_000023.10:g.128977665T>C	(Likely) benign	1 lab	150973d2e5
4:128627733 INTU A>G	4	128627733	128627733	A	G	INTU	c.1880A>G	NM_015693.4	NP_056508.2:p.(Gln627Arg)	NC_000004.11:g.128627733A>G	VUS	1 lab	1509ee3005
8:41577495 ANK1 T>C	8	41577495	41577495	T	C	ANK1	c.910-119A>G	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41577495T>C	(Likely) benign	1 lab	ffac67b750
2:220422281 OBSL1 C>T	2	220422281	220422281	C	T	OBSL1	c.3850G>A	NM_015311.3	NP_056126.1:p.(Gly1284Ser)	NC_000002.11:g.220422281C>T	(Likely) benign	1 lab	150ac81155
15:57565358 TCF12 C>T	15	57565358	57565358	C	T	TCF12	c.1876C>T	NM_207037.2	NP_996920.1:p.(Arg626Ter)	NC_000015.9:g.57565358C>T	(Likely) pathogenic	1 lab	150b55fd6e
16:2150508 PKD1 G>T	16	2150508	2150508	G	T	PKD1	c.9457C>A	NM_001009944.3	NP_001009944.3:p.(His3153Asn)	NC_000016.9:g.2150508G>T	VUS	1 lab	150bad3b22
X:9711708 GPR143 A>G	X	9711708	9711708	A	G	GPR143	c.664T>C	NM_000273.3	NP_000264.2:p.(Ser222Pro)	NC_000023.10:g.9711708A>G	VUS	1 lab	150c458769
X:76939239 ATRX T>A	X	76939239	76939239	T	A	ATRX	c.1509A>T	NM_000489.6	NP_000480.3:p.(Gln503His)	NC_000023.10:g.76939239T>A	(Likely) benign	1 lab	150c6d47ba
18:13056046 CEP192 G>A	18	13056046	13056046	G	A	CEP192	c.3457G>A	NM_032142.4	NP_115518.3:p.(Val1153Ile)	NC_000018.9:g.13056046G>A	(Likely) benign	1 lab	150eb152f8
2:239161809 PER2 C>T	2	239161809	239161809	C	T	PER2	c.2855G>A	NM_022817.3	NP_073728.1:p.(Arg952Gln)	NC_000002.11:g.239161809C>T	(Likely) benign	1 lab	150ee8d4b5
5:140907266 DIAPH1 T>TAAAAAAAAAAA	5	140907266	140907289	T	TAAAAAAAAAAA	DIAPH1	c.3149-13_3149-3dup	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907279_140907289dup	(Likely) benign	1 lab	151288fd22
17:73494367 TMEM94 C>T	17	73494367	73494367	C	T	TMEM94	c.3601C>T	NM_014738.6	NP_055553.3:p.(Arg1201Cys)	NC_000017.10:g.73494367C>T	VUS	1 lab	15141a1b67
X:66766356 AR TGGCGGCGGCGGCGGC>T	X	66766356	66766408	TGGCGGCGGCGGCGGC	T	AR	c.1406_1420del	NM_000044.6	NP_000035.2:p.(Gly469_Gly473del)	NC_000023.10:g.66766394_66766408del	(Likely) benign	1 lab	15146d2f21
X:99657779 PCDH19 G>A	X	99657779	99657779	G	A	PCDH19	c.2359C>T	NM_001184880.2	NP_001171809.1:p.(Arg787Cys)	NC_000023.10:g.99657779G>A	VUS	1 lab	1515e894d4
17:8926604 NTN1 A>T	17	8926604	8926604	A	T	NTN1	c.914A>T	NM_004822.3	NP_004813.2:p.(Asp305Val)	NC_000017.10:g.8926604A>T	(Likely) benign	1 lab	1516a64672
6:7232045 RREB1 C>T	6	7232045	7232045	C	T	RREB1	c.3713C>T	NM_001003699.4	NP_001003699.1:p.(Ser1238Leu)	NC_000006.11:g.7232045C>T	VUS	1 lab	1a806be653
2:121712901 GLI2 A>C	2	121712901	121712901	A	C	GLI2	c.538A>C	NM_001374353.1	NP_001361282.1:p.(Met180Leu)	NC_000002.11:g.121712901A>C	(Likely) benign	1 lab	15179e7da1
12:121426741 HNF1A G>A	12	121426741	121426741	G	A	HNF1A	c.432G>A	NM_000545.8	NP_000536.6:p.(Leu144=)	NC_000012.11:g.121426741G>A	(Likely) benign	1 lab	1518305642
20:37182524 RALGAPB C>A	20	37182524	37182524	C	A	RALGAPB	c.3177C>A	NM_020336.4	NP_065069.1:p.(His1059Gln)	NC_000020.10:g.37182524C>A	(Likely) benign	1 lab	1518957bb8
9:135942548 CEL G>A	9	135942548	135942548	G	A	CEL	c.851G>A	NM_001807.6	NP_001798.3:p.(Arg284Gln)	NC_000009.11:g.135942548G>A	(Likely) benign	1 lab	151cbe71f4
2:220349156 SPEG T>A	2	220349156	220349156	T	A	SPEG	c.6971T>A	NM_005876.5	NP_005867.3:p.(Ile2324Asn)	NC_000002.11:g.220349156T>A	VUS	1 lab	151da2a612
20:61444605 OGFR AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG>A	20	61444605	61444719	AGCAGGACCTGCAGGGGACGAGCCAGCCGAGAGCCCATCGGAGACCCCAGGCCCCCGCCCG	A	OGFR	c.1693_1752del	NM_007346.4	NP_031372.2:p.(Arg565_Pro584del)	NC_000020.10:g.61444660_61444719del	(Likely) benign	1 lab	151edf7b48
3:142772621 U2SURP C>A	3	142772621	142772621	C	A	U2SURP	c.2759C>A	NM_001080415.2	NP_001073884.1:p.(Pro920Gln)	NC_000003.11:g.142772621C>A	VUS	1 lab	151fb26ac1
19:18899039 COMP G>T	19	18899039	18899039	G	T	COMP	c.957C>A	NM_000095.3	NP_000086.2:p.(Asp319Glu)	NC_000019.9:g.18899039G>T	VUS	1 lab	1520ecc0d2
10:102568900 PAX2 G>A	10	102568900	102568900	G	A	PAX2	c.826G>A	NM_000278.5	NP_000269.3:p.(Gly276Arg)	NC_000010.10:g.102568900G>A	(Likely) benign	1 lab	1523753ff2
21:45452058 TRAPPC10 G>C	21	45452058	45452058	G	C	TRAPPC10	c.149+5G>C	NM_003274.5	NP_003265.3:p.?	NC_000021.8:g.45452058G>C	(Likely) benign	1 lab	15248974db
15:99500303 IGF1R C>T	15	99500303	99500303	C	T	IGF1R	c.3736C>T	NM_000875.5	NP_000866.1:p.(Arg1246Cys)	NC_000015.9:g.99500303C>T	VUS	1 lab	1525159196
11:22284589 ANO5 C>T	11	22284589	22284589	C	T	ANO5	c.1898C>T	NM_213599.3	NP_998764.1:p.(Pro633Leu)	NC_000011.9:g.22284589C>T	VUS	1 lab	1526daecf9
4:122782719 BBS7 G>A	4	122782719	122782719	G	A	BBS7	c.281C>T	NM_176824.3	NP_789794.1:p.(Thr94Ile)	NC_000004.11:g.122782719G>A	VUS	1 lab	1a81de0ff1
2:152348185 NEB C>T	2	152348185	152348185	C	T	NEB	c.25150+12G>A	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152348185C>T	(Likely) benign	1 lab	15272a06e0
1:162729702 DDR2 G>C	1	162729702	162729702	G	C	DDR2	c.788G>C	NM_006182.4	NP_006173.2:p.(Ser263Thr)	NC_000001.10:g.162729702G>C	VUS	1 lab	15276f820c
X:140996074 MAGEC1 G>A	X	140996074	140996074	G	A	MAGEC1	c.2884G>A	NM_005462.5	NP_005453.2:p.(Gly962Ser)	NC_000023.10:g.140996074G>A	VUS	1 lab	152aa228c2
7:27134114 HOXA1 G>A	7	27134114	27134114	G	A	HOXA1	c.953C>T	NM_005522.5	NP_005513.2:p.(Pro318Leu)	NC_000007.13:g.27134114G>A	(Likely) pathogenic	1 lab	152cc3ded1
3:64536639 ADAMTS9 G>A	3	64536639	64536639	G	A	ADAMTS9	c.4798C>T	NM_182920.2	NP_891550.1:p.(Arg1600Trp)	NC_000003.11:g.64536639G>A	VUS	1 lab	152ced6c30
20:60886573 LAMA5 C>T	20	60886573	60886573	C	T	LAMA5	c.9826G>A	NM_005560.6	NP_005551.3:p.(Val3276Ile)	NC_000020.10:g.60886573C>T	(Likely) benign	1 lab	152d1a9589
X:153594469 FLNA T>G	X	153594469	153594469	T	G	FLNA	c.1352A>C	NM_001110556.2	NP_001104026.1:p.(Glu451Ala)	NC_000023.10:g.153594469T>G	(Likely) benign	1 lab	15302f07b8
16:2104312 TSC2 G>A	16	2104312	2104312	G	A	TSC2	c.352G>A	NM_000548.5	NP_000539.2:p.(Val118Ile)	NC_000016.9:g.2104312G>A	VUS	1 lab	15304e96e1
3:63968059 ATXN7 C>T	3	63968059	63968059	C	T	ATXN7	c.950C>T	NM_001377405.1	NP_001364334.1:p.(Thr317Ile)	NC_000003.11:g.63968059C>T	(Likely) benign	1 lab	1531d818e7
13:111144448 COL4A2 G>A	13	111144448	111144448	G	A	COL4A2	c.3486G>A	NM_001846.4	NP_001837.2:p.(Ser1162=)	NC_000013.10:g.111144448G>A	(Likely) benign	1 lab	1533587998
10:61835580 ANK3 CAACTGCTGATTT>C	10	61835580	61835597	CAACTGCTGATTT	C	ANK3	c.5047_5058del	NM_020987.5	NP_066267.2:p.(Lys1683_Val1686del)	NC_000010.10:g.61835586_61835597del	VUS	1 lab	15341498c2
6:41126487 TREM2 T>A	6	41126487	41126487	T	A	TREM2	c.*15A>T	NM_018965.4	NP_061838.1:p.?	NC_000006.11:g.41126487T>A	VUS	1 lab	153426cc81
3:194126650 ATP13A3 A>G	3	194126650	194126650	A	G	ATP13A3	c.3769T>C	NM_001367549.1	NP_001354478.1:p.(Ter1257GlnextTer2)	NC_000003.11:g.194126650A>G	VUS	1 lab	15344caa99
2:179540641 TTN GC>G	2	179540641	179540642	GC	G	TTN	c.34453+6del	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179540642del	(Likely) benign	1 lab	15354d9672
16:1271928 TPSG1 C>T	16	1271928	1271928	C	T	TPSG1	c.826G>A	NM_012467.4	NP_036599.4:p.(Glu276Lys)	NC_000016.9:g.1271928C>T	(Likely) benign	1 lab	1535ffb1c3
6:43008085 CUL7 G>A	6	43008085	43008085	G	A	CUL7	c.4103C>T	NM_014780.5	NP_055595.2:p.(Ala1368Val)	NC_000006.11:g.43008085G>A	VUS	1 lab	153688ce9c
1:186122978 HMCN1 T>A	1	186122978	186122978	T	A	HMCN1	c.15115T>A	NM_031935.3	NP_114141.2:p.(Trp5039Arg)	NC_000001.10:g.186122978T>A	VUS	1 lab	153a392cf5
15:45695706 AFG2B T>G	15	45695706	45695706	T	G	AFG2B	c.1079T>G	NM_024063.3	NP_076968.2:p.(Phe360Cys)	NC_000015.9:g.45695706T>G	(Likely) pathogenic	1 lab	153aefc865
18:59814338 PIGN T>C	18	59814338	59814338	T	C	PIGN	c.675-4A>G	NM_176787.5	NP_789744.1:p.?	NC_000018.9:g.59814338T>C	(Likely) benign	1 lab	153f30b1ac
6:30675830 MDC1 T>A	6	30675830	30675830	T	A	MDC1	c.2526A>T	NM_014641.3	NP_055456.2:p.(Arg842Ser)	NC_000006.11:g.30675830T>A	(Likely) benign	1 lab	153f4ba33d
19:4352913 MPND A>G	19	4352913	4352913	A	G	MPND	c.551A>G	NM_001300862.2	NP_001287791.1:p.(Glu184Gly)	NC_000019.9:g.4352913A>G	VUS	1 lab	15408a843b
16:2110608 TSC2 G>A	16	2110608	2110608	G	A	TSC2	c.976-63G>A	NM_000548.3	NP_000539.2:p.?	NC_000016.9:g.2110608G>A	(Likely) benign	1 lab	1ae4792705
12:2741883 CACNA1C C>T	12	2741883	2741883	C	T	CACNA1C	c.3829-1580C>T	NM_000719.7	NP_000710.5:p.?	NC_000012.11:g.2741883C>T	(Likely) benign	1 lab	15409aeef8
6:101095211 ASCC3 C>A	6	101095211	101095211	C	A	ASCC3	c.3369G>T	NM_006828.4	NP_006819.2:p.(Trp1123Cys)	NC_000006.11:g.101095211C>A	(Likely) benign	1 lab	15412b7b97
11:111851496 DIXDC1 A>C	11	111851496	111851496	A	C	DIXDC1	c.691A>C	NM_001037954.4	NP_001033043.1:p.(Ser231Arg)	NC_000011.9:g.111851496A>C	VUS	1 lab	15480a23ab
5:60628618 ZSWIM6 TGCCGCCGCC>T	5	60628618	60628650	TGCCGCCGCC	T	ZSWIM6	c.543_551del	NM_020928.2	NP_065979.1:p.(Ala182_Ala184del)	NC_000005.9:g.60628642_60628650del	VUS	1 lab	15483ea619
X:38145915 RPGR TTCC>T	X	38145915	38145922	TTCC	T	RPGR	c.2334_2336del	NM_001034853.2	NP_001030025.1:p.(Glu779del)	NC_000023.10:g.38145920_38145922del	(Likely) benign	1 lab	15489502a4
11:71717300 NUMA1 C>T	11	71717300	71717300	C	T	NUMA1	c.5473G>A	NM_006185.4	NP_006176.2:p.(Val1825Met)	NC_000011.9:g.71717300C>T	(Likely) benign	1 lab	154896f8f3
16:88498634 ZNF469 A>G	16	88498634	88498634	A	G	ZNF469	c.4756A>G	NM_001367624.2	NP_001354553.1:p.(Arg1586Gly)	NC_000016.9:g.88498634A>G	VUS	1 lab	1548f9c359
14:24878311 NYNRIN G>C	14	24878311	24878311	G	C	NYNRIN	c.1311G>C	NM_025081.3	NP_079357.2:p.(Gly437=)	NC_000014.8:g.24878311G>C	(Likely) benign	1 lab	1ae46ca881
X:57162691 SPIN2A C>T	X	57162691	57162691	C	T	SPIN2A	c.340G>A	NM_019003.5	NP_061876.3:p.(Val114Met)	NC_000023.10:g.57162691C>T	VUS	1 lab	154a425d8c
1:45162782 ARMH1 C>CTT	1	45162782	45162784	C	CTT	ARMH1	c.216_217insTT	NM_001145636.2	NP_001139108.1:p.(Asp73LeufsTer5)	NC_000001.10:g.45162783_45162784insTT	VUS	1 lab	154b765825
13:26976028 CDK8 G>A	13	26976028	26976028	G	A	CDK8	c.1269+267G>A	NM_001260.3	NP_001251.1:p.?	NC_000013.10:g.26976028G>A	(Likely) benign	1 lab	154bb098c0
1:225605868 LBR T>C	1	225605868	225605868	T	C	LBR	c.655A>G	NM_002296.4	NP_002287.2:p.(Met219Val)	NC_000001.10:g.225605868T>C	VUS	1 lab	154ecca1e4
3:183888535 DVL3 G>A	3	183888535	183888535	G	A	DVL3	c.2143G>A	NM_004423.4	NP_004414.3:p.(Val715Met)	NC_000003.11:g.183888535G>A	VUS	1 lab	1a8a8a4736
19:47424289 ARHGAP35 T>C	19	47424289	47424289	T	C	ARHGAP35	c.2357T>C	NM_004491.5	NP_004482.4:p.(Met786Thr)	NC_000019.9:g.47424289T>C	VUS	1 lab	1551069a28
14:66083809 FUT8 A>T	14	66083809	66083809	A	T	FUT8	c.482+718A>T	NM_001371533.1	NP_001358462.1:p.?	NC_000014.8:g.66083809A>T	VUS	1 lab	15510d31b7
17:78318625 RNF213 T>G	17	78318625	78318625	T	G	RNF213	c.6490T>G	NM_001256071.3	NP_001243000.2:p.(Phe2164Val)	NC_000017.10:g.78318625T>G	(Likely) benign	1 lab	1551366748
9:134360398 PRRC2B G>A	9	134360398	134360398	G	A	PRRC2B	c.5629G>A	NM_013318.4	NP_037450.2:p.(Gly1877Ser)	NC_000009.11:g.134360398G>A	VUS	1 lab	1551c12304
19:45916907 ERCC1 T>A	19	45916907	45916907	T	A	ERCC1	c.843+28A>T	NM_001983.4	NP_001974.1:p.?	NC_000019.9:g.45916907T>A	(Likely) benign	1 lab	1552bf240c
10:123600763 ATE1 T>C	10	123600763	123600763	T	C	ATE1	c.991A>G	NM_001001976.3	NP_001001976.1:p.(Asn331Asp)	NC_000010.10:g.123600763T>C	(Likely) benign	1 lab	15535c40f5
11:113853961 HTR3A C>T	11	113853961	113853961	C	T	HTR3A	c.494C>T	NM_000869.6	NP_000860.3:p.(Pro165Leu)	NC_000011.9:g.113853961C>T	VUS	1 lab	15535dad85
17:43552790 PLEKHM1 G>A	17	43552790	43552790	G	A	PLEKHM1	c.599C>T	NM_014798.3	NP_055613.1:p.(Pro200Leu)	NC_000017.10:g.43552790G>A	VUS	1 lab	1553b00694
2:166621483 GALNT3 G>A	2	166621483	166621483	G	A	GALNT3	c.599C>T	NM_004482.4	NP_004473.2:p.(Thr200Met)	NC_000002.11:g.166621483G>A	VUS	1 lab	155404da1e
9:138590310 SOHLH1 C>T	9	138590310	138590310	C	T	SOHLH1	c.210G>A	NM_001101677.2	NP_001095147.2:p.(Ser70=)	NC_000009.11:g.138590310C>T	(Likely) benign	1 lab	1554f0d28a
19:8601851 MYO1F C>T	19	8601851	8601851	C	T	MYO1F	c.1781G>A	NM_012335.4	NP_036467.2:p.(Arg594Gln)	NC_000019.9:g.8601851C>T	(Likely) benign	1 lab	155508b3fd
9:135983546 RALGDS A>ATCCTGTTCTGGAGCTGGC	9	135983546	135983566	A	ATCCTGTTCTGGAGCTGGC	RALGDS	c.1008_1025dup	NM_006266.4	NP_006257.1:p.(Glu336_Gln341dup)	NC_000009.11:g.135983549_135983566dup	(Likely) benign	1 lab	1556a3366d
19:7584564 ZNF358 A>C	19	7584564	7584564	A	C	ZNF358	c.436A>C	NM_018083.5	NP_060553.4:p.(Ser146Arg)	NC_000019.9:g.7584564A>C	(Likely) benign	1 lab	1558cbf144
8:144893325 SCRIB G>A	8	144893325	144893325	G	A	SCRIB	c.1097C>T	NM_182706.5	NP_874365.3:p.(Ala366Val)	NC_000008.10:g.144893325G>A	VUS	1 lab	155a31fcec
11:103006610 DYNC2H1 T>G	11	103006610	103006610	T	G	DYNC2H1	c.2507T>G	NM_001377.3	NP_001368.2:p.(Phe836Cys)	NC_000011.9:g.103006610T>G	VUS	1 lab	155a69c190
22:34046510 LARGE1 C>G	22	34046510	34046510	C	G	LARGE1	c.251G>C	NM_133642.5	NP_598397.1:p.(Ser84Thr)	NC_000022.10:g.34046510C>G	(Likely) benign	1 lab	155b35fbc1
15:73029971 BBS4 G>T	15	73029971	73029971	G	T	BBS4	c.*43G>T	NM_033028.5	NP_149017.2:p.?	NC_000015.9:g.73029971G>T	(Likely) benign	1 lab	155b4fea04
16:70698860 MTSS2 G>A	16	70698860	70698860	G	A	MTSS2	c.1268C>T	NM_138383.3	NP_612392.1:p.(Pro423Leu)	NC_000016.9:g.70698860G>A	(Likely) benign	1 lab	155b6ca816
14:63468118 KCNH5 C>T	14	63468118	63468118	C	T	KCNH5	c.364G>A	NM_139318.5	NP_647479.2:p.(Val122Ile)	NC_000014.8:g.63468118C>T	VUS	1 lab	155b9f5e59
X:103495255 ESX1 G>A	X	103495255	103495255	G	A	ESX1	c.875C>T	NM_153448.4	NP_703149.1:p.(Ala292Val)	NC_000023.10:g.103495255G>A	(Likely) benign	1 lab	155d4af7e6
2:216191608 ATIC A>G	2	216191608	216191608	A	G	ATIC	c.595A>G	NM_004044.7	NP_004035.2:p.(Lys199Glu)	NC_000002.11:g.216191608A>G	(Likely) benign	1 lab	155e778f9b
6:33235978 VPS52 G>T	6	33235978	33235978	G	T	VPS52	c.707C>A	NM_022553.6	NP_072047.4:p.(Thr236Lys)	NC_000006.11:g.33235978G>T	(Likely) benign	1 lab	155e8b0c02
17:73610667 MYO15B C>T	17	73610667	73610667	C	T	MYO15B	c.5385C>T	NM_001395058.1	NP_001381987.1:p.(Ala1795=)	NC_000017.10:g.73610667C>T	(Likely) benign	1 lab	155e9b1b5e
19:17991772 SLC5A5 C>A	19	17991772	17991772	C	A	SLC5A5	c.1058+10C>A	NM_000453.3	NP_000444.1:p.?	NC_000019.9:g.17991772C>A	(Likely) benign	1 lab	155f3a7efa
19:9074697 MUC16 G>A	19	9074697	9074697	G	A	MUC16	c.12869C>T	NM_001401501.2	NP_001388430.1:p.(Thr4290Met)	NC_000019.9:g.9074697G>A	(Likely) benign	1 lab	155f8c6670
5:180048658 FLT4 G>C	5	180048658	180048658	G	C	FLT4	c.1904C>G	NM_182925.5	NP_891555.2:p.(Thr635Arg)	NC_000005.9:g.180048658G>C	VUS	1 lab	156049496f
2:220478536 STK11IP T>C	2	220478536	220478536	T	C	STK11IP	c.2600T>C	NM_052902.4	NP_443134.3:p.(Ile867Thr)	NC_000002.11:g.220478536T>C	(Likely) benign	1 lab	15614cdf64
2:27589799 EIF2B4 A>G	2	27589799	27589799	A	G	EIF2B4	c.1018T>C	NM_001034116.2	NP_001029288.1:p.(Ser340Pro)	NC_000002.11:g.27589799A>G	VUS	1 lab	1561ff9b78
18:25572690 CDH2 C>T	18	25572690	25572690	C	T	CDH2	c.1273G>A	NM_001792.5	NP_001783.2:p.(Gly425Arg)	NC_000018.9:g.25572690C>T	VUS	1 lab	156698eca7
18:6982496 LAMA1 C>A	18	6982496	6982496	C	A	LAMA1	c.5890G>T	NM_005559.4	NP_005550.2:p.(Gly1964Cys)	NC_000018.9:g.6982496C>A	VUS	1 lab	15683cb644
16:89347075 ANKRD11 C>T	16	89347075	89347075	C	T	ANKRD11	c.5875G>A	NM_013275.6	NP_037407.4:p.(Ala1959Thr)	NC_000016.9:g.89347075C>T	VUS	1 lab	156879d997
15:23687119 GOLGA6L2 C>T	15	23687119	23687119	C	T	GOLGA6L2	c.792+7G>A	NM_001304388.2	NP_001291317.1:p.?	NC_000015.9:g.23687119C>T	(Likely) benign	1 lab	156a23934a
12:123351826 VPS37B G>A	12	123351826	123351826	G	A	VPS37B	c.695C>T	NM_024667.3	NP_078943.1:p.(Ala232Val)	NC_000012.11:g.123351826G>A	(Likely) benign	1 lab	156e3e955d
12:53344108 KRT18 C>G	12	53344108	53344108	C	G	KRT18	c.418-4C>G	NM_000224.3	NP_000215.1:p.?	NC_000012.11:g.53344108C>G	(Likely) benign	1 lab	156f3a4678
17:71232418 MTNAP1 C>T	17	71232418	71232418	C	T	MTNAP1	c.797C>T	NM_001351264.2	NP_001338193.2:p.(Thr266Ile)	NC_000017.10:g.71232418C>T	VUS	1 lab	156fd32d81
16:1203988 CACNA1H G>A	16	1203988	1203988	G	A	CACNA1H	c.251G>A	NM_021098.3	NP_066921.2:p.(Gly84Asp)	NC_000016.9:g.1203988G>A	(Likely) benign	1 lab	1571e61b60
1:13414103 PRAMEF10 C>T	1	13414103	13414103	C	T	PRAMEF10	c.1046C>T	NM_001039361.4	NP_001034450.3:p.(Ala349Val)	NC_000001.10:g.13414103C>T	VUS	1 lab	1572c33227
2:152423725 NEB T>C	2	152423725	152423725	T	C	NEB	c.18113A>G	NM_001164508.2	NP_001157980.2:p.(Asn6038Ser)	NC_000002.11:g.152423725T>C	(Likely) benign	1 lab	1572fa721d
X:48920061 CCDC120 C>T	X	48920061	48920061	C	T	CCDC120	c.217C>T	NM_001163321.4	NP_001156793.2:p.(Arg73Trp)	NC_000023.10:g.48920061C>T	(Likely) benign	1 lab	1574154325
9:17298291 CNTLN C>T	9	17298291	17298291	C	T	CNTLN	c.1087C>T	NM_017738.4	NP_060208.2:p.(Gln363Ter)	NC_000009.11:g.17298291C>T	(Likely) benign	1 lab	1575b62fe0
15:89391239 ACAN G>A	15	89391239	89391239	G	A	ACAN	c.1702G>A	NM_001369268.1	NP_001356197.1:p.(Asp568Asn)	NC_000015.9:g.89391239G>A	VUS	1 lab	157619f989
19:3526259 FZR1 G>A	19	3526259	3526259	G	A	FZR1	c.262G>A	NM_016263.4	NP_057347.2:p.(Gly88Ser)	NC_000019.9:g.3526259G>A	(Likely) benign	1 lab	157625e065
7:75123516 SPDYE5 T>C	7	75123516	75123516	T	C	SPDYE5	c.149T>C	NM_001306141.4	NP_001293070.1:p.(Leu50Ser)	NC_000007.13:g.75123516T>C	VUS	1 lab	15766ca87b
2:219920482 IHH C>T	2	219920482	219920482	C	T	IHH	c.683G>A	NM_002181.4	NP_002172.2:p.(Arg228His)	NC_000002.11:g.219920482C>T	VUS	1 lab	1576a233b7
8:55538929 RP1 A>C	8	55538929	55538929	A	C	RP1	c.2487A>C	NM_006269.2	NP_006260.1:p.(Lys829Asn)	NC_000008.10:g.55538929A>C	VUS	1 lab	1577d79039
17:8408006 MYH10 A>G	17	8408006	8408006	A	G	MYH10	c.3599+6T>C	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8408006A>G	(Likely) benign	1 lab	1578922f5a
12:49360194 WNT10B A>G	12	49360194	49360194	A	G	WNT10B	c.854T>C	NM_003394.4	NP_003385.2:p.(Ile285Thr)	NC_000012.11:g.49360194A>G	VUS	1 lab	157be8e610
X:40552073 MED14 G>A	X	40552073	40552073	G	A	MED14	c.1732C>T	NM_004229.4	NP_004220.2:p.(Arg578Cys)	NC_000023.10:g.40552073G>A	VUS	1 lab	157bfacd41
5:176636958 NSD1 G>A	5	176636958	176636958	G	A	NSD1	c.1558G>A	NM_022455.5	NP_071900.2:p.(Ala520Thr)	NC_000005.9:g.176636958G>A	(Likely) benign	1 lab	157c9aa21a
1:43218270 P3H1 G>C	1	43218270	43218270	G	C	P3H1	c.1411C>G	NM_022356.4	NP_071751.3:p.(Arg471Gly)	NC_000001.10:g.43218270G>C	VUS	1 lab	157cc9f7f1
16:81411184 GAN C>T	16	81411184	81411184	C	T	GAN	c.1777C>T	NM_022041.4	NP_071324.1:p.(Arg593Cys)	NC_000016.9:g.81411184C>T	VUS	1 lab	157d8771e7
17:10534932 MYH3 G>A	17	10534932	10534932	G	A	MYH3	c.5282C>T	NM_002470.4	NP_002461.2:p.(Thr1761Met)	NC_000017.10:g.10534932G>A	VUS	1 lab	157e6515a3
7:75615146 POR C>T	7	75615146	75615146	C	T	POR	c.1648C>T	NM_000941.3	NP_000932.3:p.(Arg550Trp)	NC_000007.13:g.75615146C>T	(Likely) pathogenic	1 lab	157f455d4e
4:76489442 ODAPH G>A	4	76489442	76489442	G	A	ODAPH	c.186G>A	NM_178497.5	NP_848592.2:p.(Gln62=)	NC_000004.11:g.76489442G>A	(Likely) benign	1 lab	1581dc100f
5:13781047 DNAH5 G>A	5	13781047	13781047	G	A	DNAH5	c.8842C>T	NM_001369.3	NP_001360.1:p.(Pro2948Ser)	NC_000005.9:g.13781047G>A	VUS	1 lab	1585e6d23c
17:7753231 KDM6B G>C	17	7753231	7753231	G	C	KDM6B	c.3533G>C	NM_001348716.2	NP_001335645.1:p.(Arg1178Pro)	NC_000017.10:g.7753231G>C	(Likely) benign	1 lab	1586006f6d
2:241530368 CAPN10 T>G	2	241530368	241530368	T	G	CAPN10	c.410T>G	NM_023083.4	NP_075571.2:p.(Phe137Cys)	NC_000002.11:g.241530368T>G	VUS	1 lab	158606d0a2
22:19978278 ARVCF C>G	22	19978278	19978278	C	G	ARVCF	c.40G>C	NM_001670.3	NP_001661.1:p.(Ala14Pro)	NC_000022.10:g.19978278C>G	VUS	1 lab	1586d2140c
20:34809818 EPB41L1 C>T	20	34809818	34809818	C	T	EPB41L1	c.2469C>T	NM_001258329.1	NP_001245258.1:p.(Ile823=)	NC_000020.10:g.34809818C>T	(Likely) benign	1 lab	1a954ceb01
19:3531811 FZR1 G>A	19	3531811	3531811	G	A	FZR1	c.820G>A	NM_016263.4	NP_057347.2:p.(Val274Ile)	NC_000019.9:g.3531811G>A	(Likely) benign	1 lab	158b89adc3
2:44223007 LRPPRC A>AGGAGGCGCAGGGAGAGCG	2	44223007	44223033	A	AGGAGGCGCAGGGAGAGCG	LRPPRC	c.62_79dup	NM_133259.4	NP_573566.2:p.(Pro21_Leu26dup)	NC_000002.11:g.44223016_44223033dup	VUS	1 lab	158bcd8092
2:152417135 NEB C>T	2	152417135	152417135	C	T	NEB	c.19285G>A	NM_001164508.2	NP_001157980.2:p.(Ala6429Thr)	NC_000002.11:g.152417135C>T	(Likely) benign	1 lab	158c338d73
X:53461280 HSD17B10 A>G	X	53461280	53461280	A	G	HSD17B10	c.13T>C	NM_004493.3	NP_004484.1:p.(Cys5Arg)	NC_000023.10:g.53461280A>G	(Likely) benign	1 lab	158f08ba1a
2:230659743 TRIP12 A>C	2	230659743	230659743	A	C	TRIP12	c.3968+152T>G	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230659743A>C	VUS	1 lab	158f9d22fb
8:43027443 HGSNAT C>T	8	43027443	43027443	C	T	HGSNAT	c.744-10C>T	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43027443C>T	(Likely) benign	1 lab	15916f773d
2:238253835 COL6A3 C>T	2	238253835	238253835	C	T	COL6A3	c.7114G>A	NM_004369.4	NP_004360.2:p.(Asp2372Asn)	NC_000002.11:g.238253835C>T	(Likely) benign	1 lab	15923a2f86
9:100201526 TDRD7 G>C	9	100201526	100201526	G	C	TDRD7	c.564-1G>C	NM_014290.3	NP_055105.2:p.?	NC_000009.11:g.100201526G>C	VUS	1 lab	15a59deae9
22:24175856 SMARCB1 GAGA>G	22	24175856	24175865	GAGA	G	SMARCB1	c.1091_1093del	NM_003073.5	NP_003064.2:p.(Lys364del)	NC_000022.10:g.24175863_24175865del	(Likely) pathogenic	1 lab	1595297051
3:71179809 FOXP1 C>G	3	71179809	71179809	C	G	FOXP1	c.181-18021G>C	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71179809C>G	(Likely) benign	1 lab	1595d644c1
1:6211172 CHD5 C>T	1	6211172	6211172	C	T	CHD5	c.914G>A	NM_015557.3	NP_056372.1:p.(Ser305Asn)	NC_000001.10:g.6211172C>T	(Likely) benign	1 lab	159693f8c6
11:88061374 CTSC G>A	11	88061374	88061374	G	A	CTSC	c.318+6731C>T	NM_001814.6	NP_001805.4:p.?	NC_000011.9:g.88061374G>A	(Likely) benign	1 lab	159776dd04
4:155491156 FGB C>T	4	155491156	155491156	C	T	FGB	c.1244+205C>T	NM_005141.5	NP_005132.2:p.?	NC_000004.11:g.155491156C>T	(Likely) benign	1 lab	15979887a8
9:135946624 CEL A>G	9	135946624	135946624	A	G	CEL	c.1735A>G	NM_001807.6	NP_001798.3:p.(Thr579Ala)	NC_000009.11:g.135946624A>G	(Likely) benign	1 lab	15992c8ba2
19:34934777 UBA2 C>T	19	34934777	34934777	C	T	UBA2	c.610C>T	NM_005499.3	NP_005490.1:p.(Gln204Ter)	NC_000019.9:g.34934777C>T	(Likely) pathogenic	1 lab	159aa2161a
3:128620172 ACAD9 G>C	3	128620172	128620172	G	C	ACAD9	c.862G>C	NM_014049.5	NP_054768.2:p.(Glu288Gln)	NC_000003.11:g.128620172G>C	(Likely) benign	1 lab	159bf95136
16:89348486 ANKRD11 G>T	16	89348486	89348486	G	T	ANKRD11	c.4464C>A	NM_013275.6	NP_037407.4:p.(His1488Gln)	NC_000016.9:g.89348486G>T	VUS	1 lab	159f2dd7f6
17:29652947 NF1 G>A	17	29652947	29652947	G	A	NF1	c.4945G>A	NM_001042492.3	NP_001035957.1:p.(Gly1649Arg)	NC_000017.10:g.29652947G>A	VUS	1 lab	15a0b14ff1
12:101018061 GAS2L3 C>T	12	101018061	101018061	C	T	GAS2L3	c.1478C>T	NM_174942.3	NP_777602.1:p.(Ser493Leu)	NC_000012.11:g.101018061C>T	(Likely) benign	1 lab	15a4664bf9
5:56180485 MAP3K1 A>T	5	56180485	56180485	A	T	MAP3K1	c.3820-6A>T	NM_005921.2	NP_005912.1:p.?	NC_000005.9:g.56180485A>T	VUS	1 lab	15a9ae2a3e
17:8138224 CTC1 C>G	17	8138224	8138224	C	G	CTC1	c.1460G>C	NM_025099.6	NP_079375.3:p.(Arg487Thr)	NC_000017.10:g.8138224C>G	VUS	1 lab	15aa627925
16:72830360 ZFHX3 G>C	16	72830360	72830360	G	C	ZFHX3	c.6221C>G	NM_006885.4	NP_008816.3:p.(Pro2074Arg)	NC_000016.9:g.72830360G>C	(Likely) benign	1 lab	15ab0fbdd9
17:60032845 MED13 A>C	17	60032845	60032845	A	C	MED13	c.5866T>G	NM_005121.3	NP_005112.2:p.(Ser1956Ala)	NC_000017.10:g.60032845A>C	VUS	1 lab	15adecaef3
22:22300253 PPM1F G>A	22	22300253	22300253	G	A	PPM1F	c.168C>T	NM_014634.4	NP_055449.1:p.(Gly56=)	NC_000022.10:g.22300253G>A	VUS	1 lab	15afc69e87
11:103024116 DYNC2H1 C>G	11	103024116	103024116	C	G	DYNC2H1	c.3181C>G	NM_001377.3	NP_001368.2:p.(Leu1061Val)	NC_000011.9:g.103024116C>G	(Likely) benign	1 lab	15afd1449b
16:56548456 BBS2 G>A	16	56548456	56548456	G	A	BBS2	c.254C>T	NM_031885.5	NP_114091.4:p.(Pro85Leu)	NC_000016.9:g.56548456G>A	VUS	1 lab	15b0999c97
19:5705886 LONP1 G>A	19	5705886	5705886	G	A	LONP1	c.1264C>T	NM_004793.4	NP_004784.2:p.(Arg422Trp)	NC_000019.9:g.5705886G>A	VUS	1 lab	15b0b316e7
2:234243717 SAG G>A	2	234243717	234243717	G	A	SAG	c.916G>A	NM_000541.5	NP_000532.2:p.(Glu306Lys)	NC_000002.11:g.234243717G>A	VUS	1 lab	15b0b7809f
16:30731656 SRCAP C>T	16	30731656	30731656	C	T	SRCAP	c.2987+4C>T	NM_006662.3	NP_006653.2:p.?	NC_000016.9:g.30731656C>T	(Likely) benign	1 lab	15b14e28f5
20:62326261 RTEL1 G>A	20	62326261	62326261	G	A	RTEL1	c.3277G>A	NM_001283009.2	NP_001269938.1:p.(Asp1093Asn)	NC_000020.10:g.62326261G>A	VUS	1 lab	15b15bd19f
7:87047846 ABCB4 T>C	7	87047846	87047846	T	C	ABCB4	c.2478+7A>G	NM_000443.4	NP_000434.1:p.?	NC_000007.13:g.87047846T>C	(Likely) benign	1 lab	15b28af00c
12:112926909 PTPN11 A>T	12	112926909	112926909	A	T	PTPN11	c.1529A>T	NM_002834.5	NP_002825.3:p.(Gln510Leu)	NC_000012.11:g.112926909A>T	(Likely) pathogenic	1 lab	15b36e1683
5:122522807 PRDM6 C>G	5	122522807	122522807	C	G	PRDM6	c.1700C>G	NM_001136239.4	NP_001129711.1:p.(Thr567Arg)	NC_000005.9:g.122522807C>G	VUS	1 lab	15b37f08e9
1:1950923 GABRD G>A	1	1950923	1950923	G	A	GABRD	c.61G>A	NM_000815.5	NP_000806.2:p.(Gly21Ser)	NC_000001.10:g.1950923G>A	VUS	1 lab	15b51606ce
X:140996152 MAGEC1 C>CT	X	140996152	140996153	C	CT	MAGEC1	c.2963dup	NM_005462.5	NP_005453.2:p.(Ser989GlufsTer2)	NC_000023.10:g.140996153dup	(Likely) benign	1 lab	15b522d801
5:128864302 ADAMTS19 A>G	5	128864302	128864302	A	G	ADAMTS19	c.1260A>G	NM_133638.6	NP_598377.4:p.(Ile420Met)	NC_000005.9:g.128864302A>G	VUS	1 lab	1a967ca0c5
16:77468333 ADAMTS18 C>T	16	77468333	77468333	C	T	ADAMTS18	c.160G>A	NM_199355.4	NP_955387.1:p.(Ala54Thr)	NC_000016.9:g.77468333C>T	VUS	1 lab	15b81ed12f
8:27650263 ESCO2 ACTTTT>A	8	27650263	27650273	ACTTTT	A	ESCO2	c.1438_1442del	NM_001017420.3	NP_001017420.1:p.(Leu480TyrfsTer3)	NC_000008.10:g.27650269_27650273del	(Likely) pathogenic	1 lab	15b870a339
9:94487090 ROR2 G>A	9	94487090	94487090	G	A	ROR2	c.1686C>T	NM_004560.4	NP_004551.2:p.(His562=)	NC_000009.11:g.94487090G>A	(Likely) benign	1 lab	15b8c73ea0
4:111434705 ENPEP G>A	4	111434705	111434705	G	A	ENPEP	c.1443G>A	NM_001977.4	NP_001968.3:p.(Lys481=)	NC_000004.11:g.111434705G>A	VUS	1 lab	15b912926e
11:62609289 MISSING C>T	11	62609289	62609289	C	T	MISSING				NC_000011.9:g.62609289C>T	(Likely) benign	1 lab	1a97572c32
20:42249528 IFT52 A>G	20	42249528	42249528	A	G	IFT52	c.731A>G	NM_016004.5	NP_057088.2:p.(Asp244Gly)	NC_000020.10:g.42249528A>G	VUS	1 lab	15b99b5f1a
22:19230450 CLTCL1 C>T	22	19230450	19230450	C	T	CLTCL1	c.529G>A	NM_007098.4	NP_009029.3:p.(Val177Met)	NC_000022.10:g.19230450C>T	VUS	1 lab	15bb474b61
12:121432041 HNF1A G>A	12	121432041	121432041	G	A	HNF1A	c.788G>A	NM_000545.8	NP_000536.6:p.(Arg263His)	NC_000012.11:g.121432041G>A	(Likely) pathogenic	1 lab	15bc6bd62b
11:118468472 ARCN1 A>G	11	118468472	118468472	A	G	ARCN1	c.1292A>G	NM_001655.5	NP_001646.2:p.(His431Arg)	NC_000011.9:g.118468472A>G	VUS	1 lab	15bd60d9ef
3:52489664 NISCH A>G	3	52489664	52489664	A	G	NISCH	c.7A>G	NM_007184.4	NP_009115.3:p.(Thr3Ala)	NC_000003.11:g.52489664A>G	VUS	1 lab	15bf2892ac
4:152069102 SH3D19 G>T	4	152069102	152069102	G	T	SH3D19	c.2054C>A	NM_001378122.1	NP_001365051.1:p.(Pro685Gln)	NC_000004.11:g.152069102G>T	VUS	1 lab	15bf576e03
15:64689901 TRIP4 C>T	15	64689901	64689901	C	T	TRIP4	c.502C>T	NM_016213.5	NP_057297.2:p.(Arg168Cys)	NC_000015.9:g.64689901C>T	VUS	1 lab	15bf85b005
2:233199191 DIS3L2 C>G	2	233199191	233199191	C	G	DIS3L2	c.2271C>G	NM_152383.5	NP_689596.4:p.(Phe757Leu)	NC_000002.11:g.233199191C>G	VUS	1 lab	15c18f68e9
8:145738769 RECQL4 G>T	8	145738769	145738769	G	T	RECQL4	c.2295_2296insA	NM_004260.4	NP_004251.4:p.(Arg766ThrfsTer43)	NC_000008.10:g.145738769G>T	VUS	1 lab	15c4310a09
17:8025316 HES7 T>C	17	8025316	8025316	T	C	HES7	c.266A>G	NM_001165967.2	NP_001159439.1:p.(Asp89Gly)	NC_000017.10:g.8025316T>C	VUS	1 lab	15c4958184
4:1801147 FGFR3 G>A	4	1801147	1801147	G	A	FGFR3	c.276G>A	NM_000142.5	NP_000133.1:p.(Gln92=)	NC_000004.11:g.1801147G>A	VUS	1 lab	15c581cc27
1:2418449 PLCH2 G>A	1	2418449	2418449	G	A	PLCH2	c.910+10G>A	NM_014638.4	NP_055453.2:p.?	NC_000001.10:g.2418449G>A	(Likely) benign	1 lab	15c772d842
4:151793833 LRBA A>G	4	151793833	151793833	A	G	LRBA	c.2240T>C	NM_001364905.1	NP_001351834.1:p.(Leu747Ser)	NC_000004.11:g.151793833A>G	VUS	1 lab	15c9f093df
19:11216077 LDLR G>T	19	11216077	11216077	G	T	LDLR	c.495G>T	NM_000527.5	NP_000518.1:p.(Trp165Cys)	NC_000019.9:g.11216077G>T	VUS	1 lab	1a97a62342
17:66039095 KPNA2 C>T	17	66039095	66039095	C	T	KPNA2	c.646C>T	NM_002266.4	NP_002257.1:p.(Pro216Ser)	NC_000017.10:g.66039095C>T	(Likely) benign	1 lab	15ccca0cae
3:157823554 SHOX2 GCTCCTCCGCCTGCTCCTC>G	3	157823554	157823579	GCTCCTCCGCCTGCTCCTC	G	SHOX2	c.242_259del	NM_001163678.2	NP_001157150.1:p.(Gly81_Gly86del)	NC_000003.11:g.157823562_157823579del	VUS	1 lab	15ccdc831e
21:46924424 COL18A1 CCGGCCCCCCA>C	21	46924424	46924434	CCGGCCCCCCA	C	COL18A1	c.2823_2832del	NM_001379500.1	NP_001366429.1:p.(Gly942AlafsTer86)	NC_000021.8:g.46924425_46924434del	(Likely) benign	1 lab	15cddd65c2
11:22261152 ANO5 C>G	11	22261152	22261152	C	G	ANO5	c.800C>G	NM_213599.3	NP_998764.1:p.(Thr267Ser)	NC_000011.9:g.22261152C>G	VUS	1 lab	168196d0cf
9:97082842 NUTM2F G>A	9	97082842	97082842	G	A	NUTM2F	c.1016C>T	NM_017561.2	NP_060031.1:p.(Pro339Leu)	NC_000009.11:g.97082842G>A	(Likely) benign	1 lab	15ce34681c
17:7369507 ZBTB4 G>C	17	7369507	7369507	G	C	ZBTB4	c.614C>G	NM_001128833.2	NP_001122305.1:p.(Pro205Arg)	NC_000017.10:g.7369507G>C	VUS	1 lab	15cf435393
15:41339697 INO80 T>C	15	41339697	41339697	T	C	INO80	c.2644A>G	NM_017553.3	NP_060023.1:p.(Ile882Val)	NC_000015.9:g.41339697T>C	(Likely) benign	1 lab	15d19b5460
9:14776044 FREM1 C>T	9	14776044	14776044	C	T	FREM1	c.4600G>A	NM_001379081.2	NP_001366010.1:p.(Asp1534Asn)	NC_000009.11:g.14776044C>T	VUS	1 lab	15d22d837d
4:119661921 SEC24D T>G	4	119661921	119661921	T	G	SEC24D	c.2135A>C	NM_014822.4	NP_055637.2:p.(Asn712Thr)	NC_000004.11:g.119661921T>G	(Likely) benign	1 lab	15d4a1c101
6:116289840 FRK G>GA	6	116289840	116289846	G	GA	FRK	c.528dup	NM_002031.3	NP_002022.1:p.(Leu177SerfsTer22)	NC_000006.11:g.116289846dup	VUS	1 lab	15d545560e
11:2930566 SLC67A1 C>T	11	2930566	2930566	C	T	SLC67A1	c.383C>T	NM_002555.6	NP_002546.3:p.(Ala128Val)	NC_000011.9:g.2930566C>T	VUS	1 lab	15d6526259
X:32486787 DMD T>C	X	32486787	32486787	T	C	DMD	c.2990A>G	NM_004006.3	NP_003997.2:p.(Tyr997Cys)	NC_000023.10:g.32486787T>C	(Likely) benign	1 lab	15d6568f60
3:78710194 ROBO1 T>C	3	78710194	78710194	T	C	ROBO1	c.2306A>G	NM_002941.4	NP_002932.1:p.(Lys769Arg)	NC_000003.11:g.78710194T>C	(Likely) benign	1 lab	15d68a95b0
17:45376833 ITGB3 C>T	17	45376833	45376833	C	T	ITGB3	c.1850C>T	NM_000212.3	NP_000203.2:p.(Pro617Leu)	NC_000017.10:g.45376833C>T	VUS	1 lab	15d6ddd5d0
2:71337111 MCEE C>G	2	71337111	71337111	C	G	MCEE	c.520G>C	NM_032601.4	NP_115990.3:p.(Glu174Gln)	NC_000002.11:g.71337111C>G	VUS	1 lab	15d8232cd9
2:158626924 ACVR1 G>A	2	158626924	158626924	G	A	ACVR1	c.746C>T	NM_001111067.4	NP_001104537.1:p.(Thr249Met)	NC_000002.11:g.158626924G>A	VUS	1 lab	15d88cfd8d
8:38107283 DDHD2 A>C	8	38107283	38107283	A	C	DDHD2	c.1306A>C	NM_015214.3	NP_056029.2:p.(Lys436Gln)	NC_000008.10:g.38107283A>C	VUS	1 lab	15d9240388
19:36558790 WDR62 ATCT>A	19	36558790	36558796	ATCT	A	WDR62	c.764_766del	NM_001083961.2	NP_001077430.1:p.(Phe255del)	NC_000019.9:g.36558794_36558796del	(Likely) benign	1 lab	15dbd95d9c
4:2930197 ADD1 A>T	4	2930197	2930197	A	T	ADD1	c.2347A>T	NM_001354761.2	NP_001341690.1:p.(Lys783Ter)	NC_000004.11:g.2930197A>T	VUS	1 lab	15dc1728be
17:65850088 BPTF TCTC>T	17	65850088	65850093	TCTC	T	BPTF	c.649_651del	NM_182641.4	NP_872579.2:p.(Pro217del)	NC_000017.10:g.65850091_65850093del	VUS	1 lab	15dc2d43db
1:22181889 HSPG2 C>T	1	22181889	22181889	C	T	HSPG2	c.5905G>A	NM_005529.7	NP_005520.4:p.(Ala1969Thr)	NC_000001.10:g.22181889C>T	VUS	1 lab	15dcb92f1d
X:150840709 PASD1 G>C	X	150840709	150840709	G	C	PASD1	c.1492G>C	NM_173493.3	NP_775764.2:p.(Glu498Gln)	NC_000023.10:g.150840709G>C	VUS	1 lab	15dce09301
X:53674435 HUWE1 G>A	X	53674435	53674435	G	A	HUWE1	c.227C>T	NM_031407.7	NP_113584.3:p.(Ser76Leu)	NC_000023.10:g.53674435G>A	VUS	1 lab	15ddf2a425
12:117318777 HRK G>GT	12	117318777	117318778	G	GT	HRK	c.*56+3dup	NM_003806.4	NP_003797.1:p.?	NC_000012.11:g.117318778dup	VUS	1 lab	15dfb35e0d
3:47040790 NBEAL2 AT>A	3	47040790	47040791	AT	A	NBEAL2	c.3544-14del	NM_015175.3	NP_055990.1:p.?	NC_000003.11:g.47040791del	VUS	1 lab	fface75b56
9:136401853 ADAMTSL2 TGTTCCTGCTGGGCCTG>T	9	136401853	136401880	TGTTCCTGCTGGGCCTG	T	ADAMTSL2	c.31_46del	NM_014694.4	NP_055509.2:p.(Ala11PhefsTer5)	NC_000009.11:g.136401865_136401880del	VUS	1 lab	15dfe8f3a6
5:71490893 MAP1B G>A	5	71490893	71490893	G	A	MAP1B	c.1711G>A	NM_005909.5	NP_005900.2:p.(Val571Met)	NC_000005.9:g.71490893G>A	(Likely) benign	1 lab	15e10904e8
16:599298 CAPN15 G>A	16	599298	599298	G	A	CAPN15	c.1669G>A	NM_005632.3	NP_005623.1:p.(Ala557Thr)	NC_000016.9:g.599298G>A	VUS	1 lab	15e1e3d011
9:43627597 SPATA31A6 C>G	9	43627597	43627597	C	G	SPATA31A6	c.1090G>C	NM_001145196.1	NP_001138668.1:p.(Gly364Arg)	NC_000009.11:g.43627597C>G	(Likely) benign	1 lab	15e35e84a8
6:56918153 KIAA1586 T>TA	6	56918153	56918154	T	TA	KIAA1586	c.857dup	NM_020931.4	NP_065982.1:p.(Tyr286Ter)	NC_000006.11:g.56918154dup	VUS	1 lab	15e3c981da
8:145008569 PLEC G>C	8	145008569	145008569	G	C	PLEC	c.1086C>G	NM_201384.3	NP_958786.1:p.(His362Gln)	NC_000008.10:g.145008569G>C	VUS	1 lab	15e3dbc961
X:101382158 TCEAL2 A>G	X	101382158	101382158	A	G	TCEAL2	c.356A>G	NM_080390.4	NP_525129.1:p.(Glu119Gly)	NC_000023.10:g.101382158A>G	VUS	1 lab	15e45beb5b
19:41854317 TGFB1 C>T	19	41854317	41854317	C	T	TGFB1	c.399G>A	NM_000660.7	NP_000651.3:p.(Met133Ile)	NC_000019.9:g.41854317C>T	(Likely) benign	1 lab	15e49d6e5e
4:77662697 SHROOM3 G>T	4	77662697	77662697	G	T	SHROOM3	c.3371G>T	NM_020859.4	NP_065910.3:p.(Gly1124Val)	NC_000004.11:g.77662697G>T	(Likely) benign	1 lab	15e615c023
2:100194796 AFF3 C>G	2	100194796	100194796	C	G	AFF3	c.2911G>C	NM_001386135.1	NP_001373064.1:p.(Asp971His)	NC_000002.11:g.100194796C>G	VUS	1 lab	15e77568ed
5:174156258 MSX2 G>A	5	174156258	174156258	G	A	MSX2	c.476G>A	NM_002449.5	NP_002440.2:p.(Arg159His)	NC_000005.9:g.174156258G>A	VUS	1 lab	15e84cf1fe
5:7885810 MTRR C>T	5	7885810	7885810	C	T	MTRR	c.904-4C>T	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7885810C>T	(Likely) benign	1 lab	15eae0c24d
10:27822758 RAB18 G>A	10	27822758	27822758	G	A	RAB18	c.354G>A	NM_021252.5	NP_067075.1:p.(Met118Ile)	NC_000010.10:g.27822758G>A	VUS	1 lab	15ec9b70ba
13:79189856 OBI1 G>C	13	79189856	79189856	G	C	OBI1	c.2040C>G	NM_024546.4	NP_078822.3:p.(His680Gln)	NC_000013.10:g.79189856G>C	VUS	1 lab	15ee2f05d8
17:489576 VPS53 G>T	17	489576	489576	G	T	VPS53	c.1247C>A	NM_001128159.3	NP_001121631.1:p.(Pro416Gln)	NC_000017.10:g.489576G>T	VUS	1 lab	15ee8f226d
17:56811581 RAD51C T>C	17	56811581	56811581	T	C	RAD51C	c.1129T>C	NM_058216.3	NP_478123.1:p.(Ter377GlnextTer12)	NC_000017.10:g.56811581T>C	VUS	1 lab	15ef7928b3
14:21859662 CHD8 T>C	14	21859662	21859662	T	C	CHD8	c.7025A>G	NM_001170629.2	NP_001164100.1:p.(Gln2342Arg)	NC_000014.8:g.21859662T>C	VUS	1 lab	15f0aec63a
6:30630522 DHX16 G>A	6	30630522	30630522	G	A	DHX16	c.1429-3C>T	NM_003587.5	NP_003578.2:p.?	NC_000006.11:g.30630522G>A	(Likely) benign	1 lab	15f0da1622
9:139333219 INPP5E T>G	9	139333219	139333219	T	G	INPP5E	c.653A>C	NM_019892.6	NP_063945.2:p.(Asp218Ala)	NC_000009.11:g.139333219T>G	VUS	1 lab	15f0db66f7
1:19201919 ALDH4A1 T>C	1	19201919	19201919	T	C	ALDH4A1	c.1417A>G	NM_003748.4	NP_003739.2:p.(Thr473Ala)	NC_000001.10:g.19201919T>C	(Likely) benign	1 lab	15f0de459f
19:15536564 WIZ G>A	19	15536564	15536564	G	A	WIZ	c.4382C>T	NM_001371589.1	NP_001358518.1:p.(Pro1461Leu)	NC_000019.9:g.15536564G>A	VUS	1 lab	15f0eac601
5:136834199 SPOCK1 G>A	5	136834199	136834199	G	A	SPOCK1	c.49C>T	NM_004598.4	NP_004589.1:p.(Leu17Phe)	NC_000005.9:g.136834199G>A	(Likely) benign	1 lab	15f4763ca0
7:65439529 GUSB C>T	7	65439529	65439529	C	T	GUSB	c.1228G>A	NM_000181.4	NP_000172.2:p.(Val410Met)	NC_000007.13:g.65439529C>T	(Likely) pathogenic	1 lab	15f57c7a2d
12:111471994 CUX2 G>A	12	111471994	111471994	G	A	CUX2	c.13G>A	NM_015267.4	NP_056082.2:p.(Val5Met)	NC_000012.11:g.111471994G>A	(Likely) benign	1 lab	15f63fb036
5:176678852 NSD1 C>T	5	176678852	176678852	C	T	NSD1	c.4763C>T	NM_022455.5	NP_071900.2:p.(Thr1588Ile)	NC_000005.9:g.176678852C>T	(Likely) benign	1 lab	15f6f1fc96
11:66457673 SPTBN2 G>C	11	66457673	66457673	G	C	SPTBN2	c.5647C>G	NM_006946.4	NP_008877.2:p.(Gln1883Glu)	NC_000011.9:g.66457673G>C	VUS	1 lab	15f7b28b8d
1:103455079 COL11A1 C>T	1	103455079	103455079	C	T	COL11A1	c.2389G>A	NM_001854.4	NP_001845.3:p.(Asp797Asn)	NC_000001.10:g.103455079C>T	VUS	1 lab	15f8613364
X:91132795 PCDH11X C>T	X	91132795	91132795	C	T	PCDH11X	c.1556C>T	NM_032968.5	NP_116750.1:p.(Thr519Ile)	NC_000023.10:g.91132795C>T	VUS	1 lab	15fa2e029c
8:41519303 ANK1 G>A	8	41519303	41519303	G	A	ANK1	c.5544+91C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41519303G>A	(Likely) benign	1 lab	ffadb1d2d9
16:3293929 MEFV GC>G	16	3293929	3293930	GC	G	MEFV	c.1760-38del	NM_000243.3	NP_000234.1:p.?	NC_000016.9:g.3293930del	(Likely) benign	1 lab	1600c83c2e
14:105609400 JAG2 G>A	14	105609400	105609400	G	A	JAG2	c.3349C>T	NM_002226.5	NP_002217.3:p.(Arg1117Trp)	NC_000014.8:g.105609400G>A	(Likely) benign	1 lab	160239ed1e
8:72181973 EYA1 A>T	8	72181973	72181973	A	T	EYA1	c.1050+2T>A	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72181973A>T	(Likely) pathogenic	1 lab	1602a23cca
8:94767159 TMEM67 G>A	8	94767159	94767159	G	A	TMEM67	c.17G>A	NM_153704.6	NP_714915.3:p.(Gly6Glu)	NC_000008.10:g.94767159G>A	VUS	1 lab	16045356ae
20:61444615 OGFR G>A	20	61444615	61444615	G	A	OGFR	c.1648G>A	NM_007346.4	NP_031372.2:p.(Ala550Thr)	NC_000020.10:g.61444615G>A	(Likely) benign	1 lab	160517dac6
6:90642437 BACH2 G>A	6	90642437	90642437	G	A	BACH2	c.2216C>T	NM_021813.4	NP_068585.1:p.(Pro739Leu)	NC_000006.11:g.90642437G>A	VUS	1 lab	1605a56c96
18:19424063 MIB1 G>A	18	19424063	19424063	G	A	MIB1	c.2060G>A	NM_020774.4	NP_065825.1:p.(Arg687His)	NC_000018.9:g.19424063G>A	VUS	1 lab	1607289f7d
5:64097150 CWC27 TTTAG>T	5	64097150	64097156	TTTAG	T	CWC27	c.774_777del	NM_005869.4	NP_005860.2:p.(Val259MetfsTer21)	NC_000005.9:g.64097153_64097156del	VUS	1 lab	1609b9c45e
12:110231806 TRPV4 T>C	12	110231806	110231806	T	C	TRPV4	c.1513A>G	NM_021625.5	NP_067638.3:p.(Thr505Ala)	NC_000012.11:g.110231806T>C	(Likely) benign	1 lab	160b520651
13:108861712 LIG4 CT>C	13	108861712	108861714	CT	C	LIG4	c.1904del	NM_206937.2	NP_996820.1:p.(Lys635ArgfsTer10)	NC_000013.10:g.108861714del	(Likely) pathogenic	1 lab	160ba971b4
11:99786867 CNTN5 C>T	11	99786867	99786867	C	T	CNTN5	c.659C>T	NM_014361.4	NP_055176.1:p.(Pro220Leu)	NC_000011.9:g.99786867C>T	VUS	1 lab	2ff783256f
7:42007293 GLI3 C>T	7	42007293	42007293	C	T	GLI3	c.2332G>A	NM_000168.6	NP_000159.3:p.(Val778Ile)	NC_000007.13:g.42007293C>T	(Likely) benign	1 lab	160e0973b6
16:28909609 ATP2A1 G>A	16	28909609	28909609	G	A	ATP2A1	c.1601G>A	NM_004320.6	NP_004311.1:p.(Arg534Gln)	NC_000016.9:g.28909609G>A	VUS	1 lab	160ea0f64e
11:6414920 SMPD1 C>G	11	6414920	6414920	C	G	SMPD1	c.1337C>G	NM_000543.5	NP_000534.3:p.(Ala446Gly)	NC_000011.9:g.6414920C>G	(Likely) benign	1 lab	160f1cd116
16:72822008 ZFHX3 TTGC>T	16	72822008	72822025	TTGC	T	ZFHX3	c.10164_10166del	NM_006885.4	NP_008816.3:p.(Gln3389del)	NC_000016.9:g.72822023_72822025del	(Likely) benign	1 lab	16109f6fde
7:5330814 SLC29A4 C>T	7	5330814	5330814	C	T	SLC29A4	c.361C>T	NM_153247.4	NP_694979.2:p.(Leu121Phe)	NC_000007.13:g.5330814C>T	(Likely) benign	1 lab	161124b4b4
14:92343923 FBLN5 T>C	14	92343923	92343923	T	C	FBLN5	c.1093A>G	NM_006329.4	NP_006320.2:p.(Ile365Val)	NC_000014.8:g.92343923T>C	VUS	1 lab	1611c4f343
16:19049253 TMC7 A>T	16	19049253	19049253	A	T	TMC7	c.1063A>T	NM_024847.4	NP_079123.3:p.(Thr355Ser)	NC_000016.9:g.19049253A>T	(Likely) benign	1 lab	1612b21648
4:123156061 BLTP1 C>T	4	123156061	123156061	C	T	BLTP1	c.3457C>T	NM_001384125.1	NP_001371054.1:p.(Pro1153Ser)	NC_000004.11:g.123156061C>T	VUS	1 lab	161335894f
14:103440415 CDC42BPB G>A	14	103440415	103440415	G	A	CDC42BPB	c.1579C>T	NM_006035.4	NP_006026.3:p.(Arg527Trp)	NC_000014.8:g.103440415G>A	(Likely) benign	1 lab	16148440e2
16:88776624 CTU2 C>T	16	88776624	88776624	C	T	CTU2	c.223-7C>T	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88776624C>T	(Likely) benign	1 lab	1615c0f8c8
16:2287231 DNASE1L2 C>G	16	2287231	2287231	C	G	DNASE1L2	c.246C>G	NM_001374.3	NP_001365.1:p.(His82Gln)	NC_000016.9:g.2287231C>G	VUS	1 lab	16160351a5
13:75923371 TBC1D4 G>A	13	75923371	75923371	G	A	TBC1D4	c.1343C>T	NM_014832.5	NP_055647.2:p.(Thr448Met)	NC_000013.10:g.75923371G>A	VUS	1 lab	161613625b
13:32915263 BRCA2 C>T	13	32915263	32915263	C	T	BRCA2	c.6771C>T	NM_000059.4	NP_000050.3:p.(Pro2257=)	NC_000013.10:g.32915263C>T	(Likely) benign	1 lab	16183d6955
11:60666743 PRPF19 T>G	11	60666743	60666743	T	G	PRPF19	c.862A>C	NM_014502.5	NP_055317.1:p.(Ile288Leu)	NC_000011.9:g.60666743T>G	VUS	1 lab	161a61b549
9:139324757 INPP5E G>C	9	139324757	139324757	G	C	INPP5E	c.1774C>G	NM_019892.6	NP_063945.2:p.(Arg592Gly)	NC_000009.11:g.139324757G>C	VUS	1 lab	161c77b22c
1:155339732 ASH1L TG>T	1	155339732	155339733	TG	T	ASH1L	c.6686+562del	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155339733del	(Likely) benign	1 lab	161d8be3e9
16:89347363 ANKRD11 C>T	16	89347363	89347363	C	T	ANKRD11	c.5587G>A	NM_013275.6	NP_037407.4:p.(Asp1863Asn)	NC_000016.9:g.89347363C>T	(Likely) benign	1 lab	161de56637
12:88484533 CEP290 G>C	12	88484533	88484533	G	C	CEP290	c.3545C>G	NM_025114.4	NP_079390.3:p.(Ser1182Cys)	NC_000012.11:g.88484533G>C	VUS	1 lab	161ef06f09
22:24108446 CHCHD10 G>A	22	24108446	24108446	G	A	CHCHD10	c.278C>T	NM_213720.3	NP_998885.1:p.(Ala93Val)	NC_000022.10:g.24108446G>A	VUS	1 lab	161f1ccfe9
10:61819539 ANK3 C>T	10	61819539	61819539	C	T	ANK3	c.12596-351G>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61819539C>T	VUS	1 lab	161f898e7f
22:17600313 TMEM121B C>T	22	17600313	17600313	C	T	TMEM121B	c.1705G>A	NM_031890.4	NP_114096.1:p.(Val569Ile)	NC_000022.10:g.17600313C>T	(Likely) benign	1 lab	161fa90f50
2:70315500 PCBP1 CA>C	2	70315500	70315501	CA	C	PCBP1	c.626del	NM_006196.4	NP_006187.2:p.(His209LeufsTer11)	NC_000002.11:g.70315501del	VUS	1 lab	1623307b5b
X:54777667 ITIH6 G>A	X	54777667	54777667	G	A	ITIH6	c.3499C>T	NM_198510.3	NP_940912.1:p.(Arg1167Ter)	NC_000023.10:g.54777667G>A	VUS	1 lab	1625aab056
9:134004820 NUP214 T>C	9	134004820	134004820	T	C	NUP214	c.548T>C	NM_005085.4	NP_005076.3:p.(Val183Ala)	NC_000009.11:g.134004820T>C	VUS	1 lab	1625c1ff72
1:185934954 HMCN1 G>T	1	185934954	185934954	G	T	HMCN1	c.2119G>T	NM_031935.3	NP_114141.2:p.(Val707Phe)	NC_000001.10:g.185934954G>T	VUS	1 lab	162711fbe2
13:30072547 MTUS2 C>A	13	30072547	30072547	C	A	MTUS2	c.3679-8C>A	NM_001033602.4	NP_001028774.3:p.?	NC_000013.10:g.30072547C>A	VUS	1 lab	1627299df4
7:27211548 HOXA10 C>T	7	27211548	27211548	C	T	HOXA10	c.1203G>A	NM_018951.4	NP_061824.3:p.(Arg401=)	NC_000007.13:g.27211548C>T	(Likely) benign	1 lab	16292ae3e4
11:824439 PNPLA2 G>A	11	824439	824439	G	A	PNPLA2	c.1175+3G>A	NM_020376.4	NP_065109.1:p.?	NC_000011.9:g.824439G>A	(Likely) benign	1 lab	1629e5bf53
22:40718997 TNRC6B G>A	22	40718997	40718997	G	A	TNRC6B	c.5254G>A	NM_001162501.2	NP_001155973.1:p.(Gly1752Ser)	NC_000022.10:g.40718997G>A	(Likely) benign	1 lab	162c2c54f9
12:112600244 HECTD4 G>T	12	112600244	112600244	G	T	HECTD4	c.13204C>A	NM_001388303.1	NP_001375232.1:p.(Leu4402Met)	NC_000012.11:g.112600244G>T	VUS	1 lab	162d733e23
17:66539861 FAM20A G>A	17	66539861	66539861	G	A	FAM20A	c.721C>T	NM_017565.4	NP_060035.2:p.(Gln241Ter)	NC_000017.10:g.66539861G>A	(Likely) pathogenic	1 lab	162ffea85d
17:37370522 STAC2 T>C	17	37370522	37370522	T	C	STAC2	c.905A>G	NM_198993.5	NP_945344.1:p.(Lys302Arg)	NC_000017.10:g.37370522T>C	(Likely) benign	1 lab	1630a20806
16:89346040 ANKRD11 C>T	16	89346040	89346040	C	T	ANKRD11	c.6910G>A	NM_013275.6	NP_037407.4:p.(Glu2304Lys)	NC_000016.9:g.89346040C>T	VUS	1 lab	1631111fc0
11:61120344 CYB561A3 C>T	11	61120344	61120344	C	T	CYB561A3	c.548+113G>A	NM_153611.6	NP_705839.3:p.?	NC_000011.9:g.61120344C>T	VUS	1 lab	16317c55f0
22:41513367 EP300 C>T	22	41513367	41513367	C	T	EP300	c.271C>T	NM_001429.4	NP_001420.2:p.(Pro91Ser)	NC_000022.10:g.41513367C>T	(Likely) benign	1 lab	163197cb17
11:2905241 CDKN1C A>G	11	2905241	2905241	A	G	CDKN1C	c.911T>C	NM_001122630.2	NP_001116102.1:p.(Leu304Pro)	NC_000011.9:g.2905241A>G	(Likely) benign	1 lab	1631b3262b
15:101445785 ALDH1A3 G>C	15	101445785	101445785	G	C	ALDH1A3	c.1126G>C	NM_000693.4	NP_000684.2:p.(Gly376Arg)	NC_000015.9:g.101445785G>C	VUS	1 lab	163288d02b
12:66357040 HMGA2 A>AC	12	66357040	66357041	A	AC	HMGA2	c.299dup	NM_003483.6	NP_003474.1:p.(Ser101IlefsTer116)	NC_000012.11:g.66357041dup	(Likely) pathogenic	1 lab	163313c9b7
2:71351575 MCEE G>A	2	71351575	71351575	G	A	MCEE	c.139C>T	NM_032601.4	NP_115990.3:p.(Arg47Ter)	NC_000002.11:g.71351575G>A	(Likely) pathogenic	1 lab	16363c5c65
22:36684817 MYH9 G>A	22	36684817	36684817	G	A	MYH9	c.4726C>T	NM_002473.6	NP_002464.1:p.(Arg1576Trp)	NC_000022.10:g.36684817G>A	(Likely) benign	1 lab	1636e12e10
18:60036083 TNFRSF11A A>G	18	60036083	60036083	A	G	TNFRSF11A	c.933A>G	NM_003839.4	NP_003830.1:p.(Thr311=)	NC_000018.9:g.60036083A>G	(Likely) benign	1 lab	1aa15f2b71
5:56177848 MAP3K1 TCAACAACAACAA>T	5	56177848	56177874	TCAACAACAACAA	T	MAP3K1	c.2836_2847del	NM_005921.2	NP_005912.1:p.(Thr946_Thr949del)	NC_000005.9:g.56177863_56177874del	(Likely) benign	1 lab	1639edb613
7:6806512 RSPH10B2 C>T	7	6806512	6806512	C	T	RSPH10B2	c.780+4C>T	NM_001099697.2	NP_001093167.1:p.?	NC_000007.13:g.6806512C>T	(Likely) benign	1 lab	163a81fbc2
20:3891375 PANK2 A>G	20	3891375	3891375	A	G	PANK2	c.803A>G	NM_001386393.1	NP_001373322.1:p.(Asp268Gly)	NC_000020.10:g.3891375A>G	VUS	1 lab	163ac26466
13:28494536 PDX1 G>C	13	28494536	28494536	G	C	PDX1	c.261G>C	NM_000209.4	NP_000200.1:p.(Pro87=)	NC_000013.10:g.28494536G>C	(Likely) benign	1 lab	163cc6fd1b
11:118376590 KMT2A A>G	11	118376590	118376590	A	G	KMT2A	c.9983A>G	NM_001197104.2	NP_001184033.1:p.(His3328Arg)	NC_000011.9:g.118376590A>G	VUS	1 lab	163ce56e31
16:75263756 BCAR1 T>A	16	75263756	75263756	T	A	BCAR1	c.2266A>T	NM_014567.5	NP_055382.2:p.(Thr756Ser)	NC_000016.9:g.75263756T>A	VUS	1 lab	163d9863fb
X:114541218 LUZP4 G>A	X	114541218	114541218	G	A	LUZP4	c.791G>A	NM_016383.5	NP_057467.1:p.(Arg264Lys)	NC_000023.10:g.114541218G>A	VUS	1 lab	163f0347d4
1:226041322 TMEM63A G>C	1	226041322	226041322	G	C	TMEM63A	c.1797+8C>G	NM_014698.3	NP_055513.2:p.?	NC_000001.10:g.226041322G>C	(Likely) benign	1 lab	163f162379
19:18893736 COMP G>A	19	18893736	18893736	G	A	COMP	c.2263C>T	NM_000095.3	NP_000086.2:p.(Arg755Trp)	NC_000019.9:g.18893736G>A	(Likely) benign	1 lab	163f4fe038
11:103057139 DYNC2H1 A>G	11	103057139	103057139	A	G	DYNC2H1	c.6802A>G	NM_001377.3	NP_001368.2:p.(Met2268Val)	NC_000011.9:g.103057139A>G	VUS	1 lab	163faaa70f
X:47774581 ZNF81 G>A	X	47774581	47774581	G	A	ZNF81	c.536G>A	NM_007137.5	NP_009068.2:p.(Ser179Asn)	NC_000023.10:g.47774581G>A	VUS	1 lab	16407f03a7
17:33445541 RAD51D A>G	17	33445541	33445541	A	G	RAD51D	c.242T>C	NM_002878.4	NP_002869.3:p.(Ile81Thr)	NC_000017.10:g.33445541A>G	VUS	1 lab	164096f408
17:8138056 CTC1 C>T	17	8138056	8138056	C	T	CTC1	c.1617+11G>A	NM_025099.6	NP_079375.3:p.?	NC_000017.10:g.8138056C>T	(Likely) benign	1 lab	1ae61c857a
3:124165606 KALRN A>T	3	124165606	124165606	A	T	KALRN	c.3430-4A>T	NM_001388419.1	NP_001375348.1:p.?	NC_000003.11:g.124165606A>T	(Likely) benign	1 lab	16550f7103
19:50910261 POLD1 C>T	19	50910261	50910261	C	T	POLD1	c.1516C>T	NM_002691.4	NP_002682.2:p.(Arg506Cys)	NC_000019.9:g.50910261C>T	VUS	1 lab	1648802b6a
15:89392892 ACAN G>A	15	89392892	89392892	G	A	ACAN	c.1956G>A	NM_001369268.1	NP_001356197.1:p.(Thr652=)	NC_000015.9:g.89392892G>A	(Likely) benign	1 lab	1649314050
2:61512052 USP34 C>T	2	61512052	61512052	C	T	USP34	c.4790G>A	NM_014709.4	NP_055524.3:p.(Arg1597Gln)	NC_000002.11:g.61512052C>T	VUS	1 lab	1649c09198
8:144992849 PLEC G>A	8	144992849	144992849	G	A	PLEC	c.11140C>T	NM_201384.3	NP_958786.1:p.(Leu3714=)	NC_000008.10:g.144992849G>A	(Likely) benign	1 lab	1649e0f554
1:109801345 CELSR2 C>T	1	109801345	109801345	C	T	CELSR2	c.3602C>T	NM_001408.3	NP_001399.1:p.(Pro1201Leu)	NC_000001.10:g.109801345C>T	VUS	1 lab	164bee85c7
6:143093570 HIVEP2 C>A	6	143093570	143093570	C	A	HIVEP2	c.2306G>T	NM_006734.4	NP_006725.3:p.(Ser769Ile)	NC_000006.11:g.143093570C>A	(Likely) benign	1 lab	164c122461
6:112443331 LAMA4 T>C	6	112443331	112443331	T	C	LAMA4	c.4340A>G	NM_002290.5	NP_002281.3:p.(Asn1447Ser)	NC_000006.11:g.112443331T>C	VUS	1 lab	1aae2052ee
4:108866416 CYP2U1 ATCTG>A	4	108866416	108866424	ATCTG	A	CYP2U1	c.786_789del	NM_183075.3	NP_898898.1:p.(Cys262Ter)	NC_000004.11:g.108866421_108866424del	(Likely) pathogenic	1 lab	164e13a9a7
8:144895814 SCRIB C>T	8	144895814	144895814	C	T	SCRIB	c.439G>A	NM_182706.5	NP_874365.3:p.(Val147Met)	NC_000008.10:g.144895814C>T	VUS	1 lab	164e340aa4
19:10252874 DNMT1 T>C	19	10252874	10252874	T	C	DNMT1	c.3139A>G	NM_001130823.3	NP_001124295.1:p.(Thr1047Ala)	NC_000019.9:g.10252874T>C	VUS	1 lab	164fca587d
3:159995412 IFT80 C>T	3	159995412	159995412	C	T	IFT80	c.1883G>A	NM_020800.3	NP_065851.1:p.(Arg628Gln)	NC_000003.11:g.159995412C>T	VUS	1 lab	16518abaa1
9:135946581 CEL GGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT>G	9	135946581	135946623	GGACTCCGAGGCCACTCCCGTGCCCCCCACGGGT	G	CEL	c.1702_1734del	NM_001807.6	NP_001798.3:p.(Ala568_Glu578del)	NC_000009.11:g.135946591_135946623del	(Likely) benign	1 lab	1652f980a4
17:62050149 SCN4A C>T	17	62050149	62050149	C	T	SCN4A	c.53G>A	NM_000334.4	NP_000325.4:p.(Arg18His)	NC_000017.10:g.62050149C>T	VUS	1 lab	165406d5e1
16:72831357 ZFHX3 C>CTTGTTG	16	72831357	72831387	C	CTTGTTG	ZFHX3	c.5218_5223dup	NM_006885.4	NP_008816.3:p.(Gln1740_Gln1741dup)	NC_000016.9:g.72831382_72831387dup	(Likely) benign	1 lab	1654eedc53
11:74429831 CHRDL2 G>A	11	74429831	74429831	G	A	CHRDL2	c.129C>T	NM_001278473.3	NP_001265402.1:p.(Gly43=)	NC_000011.9:g.74429831G>A	VUS	1 lab	165511c8a7
12:49425487 KMT2D G>A	12	49425487	49425487	G	A	KMT2D	c.13001C>T	NM_003482.4	NP_003473.3:p.(Ala4334Val)	NC_000012.11:g.49425487G>A	(Likely) benign	1 lab	165971bf69
X:153220493 HCFC1 AGTGTTGGTGGTGCCCGTCTCGTGGGTCTCGCAGGGTGGGTTTGAGCAGCCATGCTGCCCGGCCATGTTGGAGGTGGCGGTGGTGGCG>A	X	153220493	153220615	AGTGTTGGTGGTGCCCGTCTCGTGGGTCTCGCAGGGTGGGTTTGAGCAGCCATGCTGCCCGGCCATGTTGGAGGTGGCGGTGGTGGCG	A	HCFC1	c.3270_3356del	NM_005334.3	NP_005325.2:p.(Thr1095_Ala1123del)	NC_000023.10:g.153220529_153220615del	VUS	1 lab	16597abc55
21:47404249 COL6A1 G>C	21	47404249	47404249	G	C	COL6A1	c.294G>C	NM_001848.3	NP_001839.2:p.(Glu98Asp)	NC_000021.8:g.47404249G>C	VUS	1 lab	1659d85fc5
4:77691846 SHROOM3 C>T	4	77691846	77691846	C	T	SHROOM3	c.5417C>T	NM_020859.4	NP_065910.3:p.(Thr1806Met)	NC_000004.11:g.77691846C>T	VUS	1 lab	165adefc49
1:220275535 IARS2 G>T	1	220275535	220275535	G	T	IARS2	c.615G>T	NM_018060.4	NP_060530.3:p.(Met205Ile)	NC_000001.10:g.220275535G>T	VUS	1 lab	165bbbfefb
13:53421299 PCDH8 C>G	13	53421299	53421299	C	G	PCDH8	c.1273G>C	NM_002590.4	NP_002581.2:p.(Gly425Arg)	NC_000013.10:g.53421299C>G	VUS	1 lab	165be97f4b
15:31776185 OTUD7A G>A	15	31776185	31776185	G	A	OTUD7A	c.2114C>T	NM_001382637.1	NP_001369566.1:p.(Pro705Leu)	NC_000015.9:g.31776185G>A	VUS	1 lab	165cb29295
13:79176483 POU4F1 C>CTGG	13	79176483	79176512	C	CTGG	POU4F1	c.324_326dup	NM_006237.4	NP_006228.3:p.(His108dup)	NC_000013.10:g.79176510_79176512dup	(Likely) benign	1 lab	165f4005f7
6:83831641 DOP1A A>G	6	83831641	83831641	A	G	DOP1A	c.1100-8A>G	NM_015018.4	NP_055833.2:p.?	NC_000006.11:g.83831641A>G	VUS	1 lab	165feb737b
16:2142141 PKD1 GC>G	16	2142141	2142142	GC	G	PKD1	c.11317del	NM_001009944.3	NP_001009944.3:p.(Ala3773GlnfsTer53)	NC_000016.9:g.2142142del	(Likely) pathogenic	1 lab	1660077aa1
6:157256690 ARID1B GA>G	6	157256690	157256693	GA	G	ARID1B	c.2230del	NM_001374828.1	NP_001361757.1:p.(Arg744AspfsTer23)	NC_000006.11:g.157256693del	(Likely) pathogenic	1 lab	16604cc7c0
15:72020881 THSD4 TCAA>T	15	72020881	72020886	TCAA	T	THSD4	c.1358-4_1358-2del	NM_024817.3	NP_079093.2:p.?	NC_000015.9:g.72020884_72020886del	(Likely) benign	1 lab	1660546b52
20:44642424 MMP9 T>G	20	44642424	44642424	T	G	MMP9	c.1739T>G	NM_004994.3	NP_004985.2:p.(Phe580Cys)	NC_000020.10:g.44642424T>G	VUS	1 lab	1661850a44
19:13397586 CACNA1A G>A	19	13397586	13397586	G	A	CACNA1A	c.3284C>T	NM_001127222.2	NP_001120694.1:p.(Ala1095Val)	NC_000019.9:g.13397586G>A	VUS	1 lab	1661b04672
19:11364347 DOCK6 G>T	19	11364347	11364347	G	T	DOCK6	c.100C>A	NM_020812.4	NP_065863.2:p.(His34Asn)	NC_000019.9:g.11364347G>T	(Likely) benign	1 lab	1661b77232
19:40433200 FCGBP C>T	19	40433200	40433200	C	T	FCGBP	c.1069G>A	NM_003890.3	NP_003881.2:p.(Val357Met)	NC_000019.9:g.40433200C>T	(Likely) benign	1 lab	1664ac7a1b
6:70978538 COL9A1 C>T	6	70978538	70978538	C	T	COL9A1	c.1256G>A	NM_001851.6	NP_001842.3:p.(Arg419His)	NC_000006.11:g.70978538C>T	(Likely) benign	1 lab	1665d6110f
3:4494703 SUMF1 T>C	3	4494703	4494703	T	C	SUMF1	c.301A>G	NM_182760.4	NP_877437.2:p.(Met101Val)	NC_000003.11:g.4494703T>C	VUS	1 lab	16666815a1
1:59165668 MYSM1 C>A	1	59165668	59165668	C	A	MYSM1	c.57G>T	NM_001085487.3	NP_001078956.1:p.(Gly19=)	NC_000001.10:g.59165668C>A	(Likely) benign	1 lab	1ae8498732
9:114905822 SUSD1 C>G	9	114905822	114905822	C	G	SUSD1	c.455G>C	NM_022486.5	NP_071931.2:p.(Cys152Ser)	NC_000009.11:g.114905822C>G	VUS	1 lab	16675ea355
12:44148715 PUS7L C>A	12	44148715	44148715	C	A	PUS7L	c.334G>T	NM_031292.5	NP_112582.3:p.(Val112Phe)	NC_000012.11:g.44148715C>A	VUS	1 lab	1667e84114
17:4806065 CHRNE T>TG	17	4806065	4806069	T	TG	CHRNE	c.47-8dup	NM_000080.4	NP_000071.1:p.?	NC_000017.10:g.4806069dup	VUS	1 lab	166807f86e
10:89503198 PAPSS2 C>T	10	89503198	89503198	C	T	PAPSS2	c.1291C>T	NM_001015880.2	NP_001015880.1:p.(Arg431Cys)	NC_000010.10:g.89503198C>T	VUS	1 lab	166b1fab49
2:179312231 PRKRA C>CATTAAGGGGTCAGGAACTGCAAAG	2	179312231	179312232	C	CATTAAGGGGTCAGGAACTGCAAAG	PRKRA	c.317_317+1insCTTTGCAGTTCCTGACCCCTTAAT	NM_003690.5	NP_003681.1:p.?	NC_000002.11:g.179312231_179312232insATTAAGGGGTCAGGAACTGCAAAG	VUS	1 lab	166bcaafcb
12:114793612 TBX5 CGGA>C	12	114793612	114793616	CGGA	C	TBX5	c.1279_1281del	NM_181486.4	NP_852259.1:p.(Ser427del)	NC_000012.11:g.114793614_114793616del	VUS	1 lab	166cc5d077
16:1814449 MAPK8IP3 GAGA>G	16	1814449	1814460	GAGA	G	MAPK8IP3	c.2278_2280del	NM_001318852.2	NP_001305781.1:p.(Lys760del)	NC_000016.9:g.1814458_1814460del	(Likely) benign	1 lab	166e725e58
2:228144569 COL4A3 C>A	2	228144569	228144569	C	A	COL4A3	c.2186C>A	NM_000091.5	NP_000082.2:p.(Pro729His)	NC_000002.11:g.228144569C>A	VUS	1 lab	166f5653ab
3:113376110 USF3 TTGCTGCTGCTGCTGC>T	3	113376110	113376147	TTGCTGCTGCTGCTGC	T	USF3	c.4404_4418del	NM_001009899.4	NP_001009899.3:p.(Gln1474_Gln1478del)	NC_000003.11:g.113376133_113376147del	(Likely) benign	1 lab	166f56ca3a
7:139636039 TBXAS1 G>A	7	139636039	139636039	G	A	TBXAS1	c.383G>A	NM_001061.7	NP_001052.3:p.(Arg128His)	NC_000007.13:g.139636039G>A	(Likely) benign	1 lab	166fcf16db
9:140128164 SLC34A3 C>T	9	140128164	140128164	C	T	SLC34A3	c.836C>T	NM_001177316.2	NP_001170787.2:p.(Thr279Met)	NC_000009.11:g.140128164C>T	(Likely) benign	1 lab	167149edb7
17:41234520 BRCA1 G>A	17	41234520	41234520	G	A	BRCA1	c.4258C>T	NM_007294.4	NP_009225.1:p.(Gln1420Ter)	NC_000017.10:g.41234520G>A	(Likely) pathogenic	1 lab	16715403f7
14:102446817 DYNC1H1 TCTC>T	14	102446817	102446822	TCTC	T	DYNC1H1	c.894_896del	NM_001376.5	NP_001367.2:p.(Leu299del)	NC_000014.8:g.102446820_102446822del	(Likely) pathogenic	1 lab	16722e9243
10:61835577 ANK3 C>G	10	61835577	61835577	C	G	ANK3	c.5062G>C	NM_020987.5	NP_066267.2:p.(Val1688Leu)	NC_000010.10:g.61835577C>G	(Likely) benign	1 lab	16724d55f5
16:46744612 MYLK3 G>A	16	46744612	46744612	G	A	MYLK3	c.2204C>T	NM_182493.3	NP_872299.2:p.(Thr735Ile)	NC_000016.9:g.46744612G>A	(Likely) benign	1 lab	167372295b
8:8559966 CLDN23 C>T	8	8559966	8559966	C	T	CLDN23	c.58C>T	NM_194284.3	NP_919260.2:p.(Leu20Phe)	NC_000008.10:g.8559966C>T	VUS	1 lab	1673e97c40
19:10431596 RAVER1 T>C	19	10431596	10431596	T	C	RAVER1	c.1505A>G	NM_133452.3	NP_597709.3:p.(Tyr502Cys)	NC_000019.9:g.10431596T>C	(Likely) benign	1 lab	1674002268
7:92731525 SAMD9 C>T	7	92731525	92731525	C	T	SAMD9	c.3886G>A	NM_017654.4	NP_060124.2:p.(Val1296Met)	NC_000007.13:g.92731525C>T	(Likely) benign	1 lab	1676643278
2:74654717 RTKN C>A	2	74654717	74654717	C	A	RTKN	c.1089G>T	NM_001015055.2	NP_001015055.1:p.(Glu363Asp)	NC_000002.11:g.74654717C>A	VUS	1 lab	16767c8dbe
19:41029399 SPTBN4 C>A	19	41029399	41029399	C	A	SPTBN4	c.3710C>A	NM_020971.3	NP_066022.2:p.(Ala1237Asp)	NC_000019.9:g.41029399C>A	(Likely) benign	1 lab	1676e41334
6:114262933 HDAC2 A>C	6	114262933	114262933	A	C	HDAC2	c.1379-4T>G	NM_001527.4	NP_001518.3:p.?	NC_000006.11:g.114262933A>C	(Likely) benign	1 lab	1ae9748e52
1:120539655 NOTCH2 G>C	1	120539655	120539655	G	C	NOTCH2	c.716C>G	NM_024408.4	NP_077719.2:p.(Thr239Ser)	NC_000001.10:g.120539655G>C	VUS	1 lab	167bc34665
2:120702656 PTPN4 G>A	2	120702656	120702656	G	A	PTPN4	c.1356-1G>A	NM_002830.4	NP_002821.1:p.?	NC_000002.11:g.120702656G>A	VUS	1 lab	167c48bf99
11:6568893 DNHD1 C>A	11	6568893	6568893	C	A	DNHD1	c.6724C>A	NM_144666.3	NP_653267.2:p.(Pro2242Thr)	NC_000011.9:g.6568893C>A	VUS	1 lab	168e69bf1a
3:129156033 MBD4 T>C	3	129156033	129156033	T	C	MBD4	c.454A>G	NM_001276270.2	NP_001263199.1:p.(Lys152Glu)	NC_000003.11:g.129156033T>C	VUS	1 lab	167c66c5e1
X:48814319 OTUD5 C>T	X	48814319	48814319	C	T	OTUD5	c.514G>A	NM_001136157.2	NP_001129629.1:p.(Gly172Ser)	NC_000023.10:g.48814319C>T	VUS	1 lab	167db9f06d
15:42138410 PLA2G4B A>G	15	42138410	42138410	A	G	PLA2G4B	c.1610A>G	NM_001114633.2	NP_001108105.1:p.(Gln537Arg)	NC_000015.9:g.42138410A>G	VUS	1 lab	167e076b9e
11:6644461 DCHS1 G>T	11	6644461	6644461	G	T	DCHS1	c.8446C>A	NM_003737.4	NP_003728.1:p.(Pro2816Thr)	NC_000011.9:g.6644461G>T	(Likely) benign	1 lab	1681057a18
14:68050491 PLEKHH1 C>T	14	68050491	68050491	C	T	PLEKHH1	c.3460C>T	NM_020715.3	NP_065766.1:p.(Pro1154Ser)	NC_000014.8:g.68050491C>T	VUS	1 lab	1683cc84d2
17:73487907 TMEM94 C>T	17	73487907	73487907	C	T	TMEM94	c.1522C>T	NM_014738.6	NP_055553.3:p.(Arg508Cys)	NC_000017.10:g.73487907C>T	VUS	1 lab	16863e07c7
9:140711975 EHMT1 C>A	9	140711975	140711975	C	A	EHMT1	c.3459C>A	NM_024757.5	NP_079033.4:p.(Cys1153Ter)	NC_000009.11:g.140711975C>A	(Likely) pathogenic	1 lab	168954ca18
19:42794048 CIC G>A	19	42794048	42794048	G	A	CIC	c.4136G>A	NM_001386298.1	NP_001373227.1:p.(Arg1379Gln)	NC_000019.9:g.42794048G>A	(Likely) benign	1 lab	168969bdbf
16:8995090 USP7 A>G	16	8995090	8995090	A	G	USP7	c.2049T>C	NM_003470.3	NP_003461.2:p.(His683=)	NC_000016.9:g.8995090A>G	(Likely) benign	1 lab	168b1474b3
2:26081807 ASXL2 C>T	2	26081807	26081807	C	T	ASXL2	c.58-13375G>A	NM_018263.6	NP_060733.4:p.?	NC_000002.11:g.26081807C>T	(Likely) benign	1 lab	168b3a96e8
1:173794453 DARS2 T>C	1	173794453	173794453	T	C	DARS2	c.86T>C	NM_018122.5	NP_060592.2:p.(Leu29Pro)	NC_000001.10:g.173794453T>C	VUS	1 lab	168b9c457e
2:55143907 EML6 A>G	2	55143907	55143907	A	G	EML6	c.3510A>G	NM_001039753.4	NP_001034842.2:p.(Ile1170Met)	NC_000002.11:g.55143907A>G	(Likely) benign	1 lab	168ba14a6f
X:122742035 THOC2 T>C	X	122742035	122742035	T	C	THOC2	c.*18+2734A>G	NM_001081550.2	NP_001075019.1:p.?	NC_000023.10:g.122742035T>C	(Likely) benign	1 lab	168c43d3e5
11:66468116 SPTBN2 T>A	11	66468116	66468116	T	A	SPTBN2	c.3454A>T	NM_006946.4	NP_008877.2:p.(Thr1152Ser)	NC_000011.9:g.66468116T>A	VUS	1 lab	168dd88ca2
3:41274521 CTNNB1 A>G	3	41274521	41274521	A	G	CTNNB1	c.1082-311A>G	NM_001904.4	NP_001895.1:p.?	NC_000003.11:g.41274521A>G	(Likely) benign	1 lab	1690a3ff85
15:28478852 HERC2 C>G	15	28478852	28478852	C	G	HERC2	c.4309G>C	NM_004667.6	NP_004658.3:p.(Gly1437Arg)	NC_000015.9:g.28478852C>G	VUS	1 lab	1ab1475734
15:49089779 CEP152 A>G	15	49089779	49089779	A	G	CEP152	c.262-3T>C	NM_001194998.2	NP_001181927.1:p.?	NC_000015.9:g.49089779A>G	VUS	1 lab	1699466b21
15:44941137 SPG11 C>T	15	44941137	44941137	C	T	SPG11	c.1529G>A	NM_025137.4	NP_079413.3:p.(Ser510Asn)	NC_000015.9:g.44941137C>T	VUS	1 lab	169c5402a3
1:27023212 ARID1A C>T	1	27023212	27023212	C	T	ARID1A	c.318C>T	NM_006015.6	NP_006006.3:p.(Asn106=)	NC_000001.10:g.27023212C>T	(Likely) benign	1 lab	169f1364f8
X:152710495 TREX2 G>A	X	152710495	152710495	G	A	TREX2	c.394C>T	NM_080701.4	NP_542432.2:p.(Arg132Trp)	NC_000023.10:g.152710495G>A	VUS	1 lab	16a18669b0
1:27117359 PIGV G>A	1	27117359	27117359	G	A	PIGV	c.53G>A	NM_017837.4	NP_060307.2:p.(Cys18Tyr)	NC_000001.10:g.27117359G>A	VUS	1 lab	16a2982322
17:7811782 CHD3 A>G	17	7811782	7811782	A	G	CHD3	c.5215A>G	NM_001005273.3	NP_001005273.1:p.(Ile1739Val)	NC_000017.10:g.7811782A>G	VUS	1 lab	16a2dacf77
18:2940676 LPIN2 ATTC>A	18	2940676	2940687	ATTC	A	LPIN2	c.622_624del	NM_001375808.2	NP_001362737.1:p.(Glu208del)	NC_000018.9:g.2940685_2940687del	VUS	1 lab	16a644b413
2:48063129 FBXO11 T>A	2	48063129	48063129	T	A	FBXO11	c.599A>T	NM_001190274.2	NP_001177203.1:p.(Tyr200Phe)	NC_000002.11:g.48063129T>A	VUS	1 lab	16a652b3cc
14:105173241 INF2 G>A	14	105173241	105173241	G	A	INF2	c.844-6G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105173241G>A	(Likely) benign	1 lab	1aea299610
22:50898027 SBF1 T>C	22	50898027	50898027	T	C	SBF1	c.3560A>G	NM_002972.4	NP_002963.2:p.(Tyr1187Cys)	NC_000022.10:g.50898027T>C	(Likely) pathogenic	1 lab	16a7e7941a
9:139733769 RABL6 C>T	9	139733769	139733769	C	T	RABL6	c.1589C>T	NM_024718.5	NP_078994.3:p.(Pro530Leu)	NC_000009.11:g.139733769C>T	(Likely) benign	1 lab	16a8e4a763
6:121560248 TBC1D32 G>T	6	121560248	121560248	G	T	TBC1D32	c.2332C>A	NM_152730.6	NP_689943.4:p.(Pro778Thr)	NC_000006.11:g.121560248G>T	VUS	1 lab	16a95a97e1
18:47367772 MYO5B C>T	18	47367772	47367772	C	T	MYO5B	c.4664G>A	NM_001080467.3	NP_001073936.1:p.(Arg1555His)	NC_000018.9:g.47367772C>T	VUS	1 lab	16aa6ea258
1:152191725 HRNR G>A	1	152191725	152191725	G	A	HRNR	c.2380C>T	NM_001009931.3	NP_001009931.1:p.(His794Tyr)	NC_000001.10:g.152191725G>A	VUS	1 lab	16ab119a11
15:74494944 STRA6 G>A	15	74494944	74494944	G	A	STRA6	c.-16+110C>T	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74494944G>A	VUS	1 lab	16ae38e991
8:38271238 FGFR1 C>T	8	38271238	38271238	C	T	FGFR1	c.2377G>A	NM_023110.3	NP_075598.2:p.(Asp793Asn)	NC_000008.10:g.38271238C>T	VUS	1 lab	16ae70715d
22:51117231 SHANK3 C>T	22	51117231	51117231	C	T	SHANK3	c.708C>T	NM_001372044.2	NP_001358973.1:p.(Asn236=)	NC_000022.10:g.51117231C>T	(Likely) benign	1 lab	16ae96646b
1:151774032 LINGO4 AG>A	1	151774032	151774039	AG	A	LINGO4	c.1148del	NM_001004432.4	NP_001004432.1:p.(Pro383LeufsTer14)	NC_000001.10:g.151774039del	VUS	1 lab	16aedd4511
5:151208619 GLRA1 CA>C	5	151208619	151208620	CA	C	GLRA1	c.921del	NM_000171.4	NP_000162.2:p.(Tyr307Ter)	NC_000005.9:g.151208620del	(Likely) pathogenic	1 lab	16afec981d
3:121981219 CASR A>G	3	121981219	121981219	A	G	CASR	c.1337A>G	NM_000388.4	NP_000379.3:p.(Asn446Ser)	NC_000003.11:g.121981219A>G	VUS	1 lab	16b160f55c
16:3860717 CREBBP T>C	16	3860717	3860717	T	C	CREBBP	c.862A>G	NM_004380.3	NP_004371.2:p.(Met288Val)	NC_000016.9:g.3860717T>C	VUS	1 lab	16b4f3cbb8
2:241815397 AGXT G>C	2	241815397	241815397	G	C	AGXT	c.822G>C	NM_000030.3	NP_000021.1:p.(Glu274Asp)	NC_000002.11:g.241815397G>C	VUS	1 lab	16b6125664
17:74729698 METTL23 CA>C	17	74729698	74729699	CA	C	METTL23	c.504del	NM_001080510.5	NP_001073979.3:p.(Glu169AsnfsTer36)	NC_000017.10:g.74729699del	(Likely) pathogenic	1 lab	16bb57a8ed
17:42991166 GFAP C>T	17	42991166	42991166	C	T	GFAP	c.548G>A	NM_002055.5	NP_002046.1:p.(Arg183His)	NC_000017.10:g.42991166C>T	VUS	1 lab	16bdaaa0d5
1:207803961 CR1 T>G	1	207803961	207803961	T	G	CR1	c.7452T>G	NM_000651.6	NP_000642.3:p.(Asn2484Lys)	NC_000001.10:g.207803961T>G	VUS	1 lab	16bdee3e73
22:26422536 MYO18B G>A	22	26422536	26422536	G	A	MYO18B	c.6596G>A	NM_032608.7	NP_115997.5:p.(Arg2199Gln)	NC_000022.10:g.26422536G>A	(Likely) benign	1 lab	16bec735b2
9:103060386 INVS T>G	9	103060386	103060386	T	G	INVS	c.3091+94T>G	NM_014425.5	NP_055240.2:p.?	NC_000009.11:g.103060386T>G	(Likely) benign	1 lab	1ab1684830
19:11080384 SMARCA4 G>A	19	11080384	11080384	G	A	SMARCA4	c.-32+8534G>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11080384G>A	VUS	1 lab	16bfddb822
12:109834247 MYO1H A>T	12	109834247	109834247	A	T	MYO1H	c.349A>T	NM_001101421.4	NP_001094891.4:p.(Ile117Phe)	NC_000012.11:g.109834247A>T	VUS	1 lab	16bfea9ea5
16:58552845 SETD6 C>T	16	58552845	58552845	C	T	SETD6	c.1334C>T	NM_001160305.4	NP_001153777.1:p.(Ala445Val)	NC_000016.9:g.58552845C>T	(Likely) benign	1 lab	16c20c071f
1:64102019 PGM1 G>C	1	64102019	64102019	G	C	PGM1	c.988G>C	NM_002633.3	NP_002624.2:p.(Gly330Arg)	NC_000001.10:g.64102019G>C	(Likely) pathogenic	1 lab	16c4456308
4:164394321 TKTL2 C>A	4	164394321	164394321	C	A	TKTL2	c.566G>T	NM_032136.5	NP_115512.3:p.(Gly189Val)	NC_000004.11:g.164394321C>A	VUS	1 lab	16c5d4cec5
19:52869505 ZNF610 G>A	19	52869505	52869505	G	A	ZNF610	c.874G>A	NM_001161425.2	NP_001154897.1:p.(Glu292Lys)	NC_000019.9:g.52869505G>A	(Likely) benign	1 lab	16c71efac0
11:118344411 KMT2A A>G	11	118344411	118344411	A	G	KMT2A	c.2537A>G	NM_001197104.2	NP_001184033.1:p.(Glu846Gly)	NC_000011.9:g.118344411A>G	VUS	1 lab	16c75e607f
10:19641134 MALRD1 G>C	10	19641134	19641134	G	C	MALRD1	c.4349G>C	NM_001142308.3	NP_001135780.2:p.(Gly1450Ala)	NC_000010.10:g.19641134G>C	(Likely) benign	1 lab	16c9bce348
15:89402227 ACAN C>T	15	89402227	89402227	C	T	ACAN	c.6411C>T	NM_001369268.1	NP_001356197.1:p.(His2137=)	NC_000015.9:g.89402227C>T	(Likely) benign	1 lab	16ca8fad17
6:31138311 POU5F1 C>A	6	31138311	31138311	C	A	POU5F1	c.87G>T	NM_002701.6	NP_002692.2:p.(Trp29Cys)	NC_000006.11:g.31138311C>A	(Likely) benign	1 lab	16cb0d6bc4
21:46641951 ADARB1 C>T	21	46641951	46641951	C	T	ADARB1	c.1945C>T	NM_001112.4	NP_001103.1:p.(Arg649Cys)	NC_000021.8:g.46641951C>T	VUS	1 lab	16cb5b76f2
3:126207049 UROC1 G>A	3	126207049	126207049	G	A	UROC1	c.1782C>T	NM_144639.3	NP_653240.1:p.(Gly594=)	NC_000003.11:g.126207049G>A	(Likely) benign	1 lab	16cbb07fdb
14:77493486 IRF2BPL T>C	14	77493486	77493486	T	C	IRF2BPL	c.650A>G	NM_024496.4	NP_078772.1:p.(Asn217Ser)	NC_000014.8:g.77493486T>C	VUS	1 lab	16cd853afd
2:165997210 SCN3A A>G	2	165997210	165997210	A	G	SCN3A	c.1970T>C	NM_006922.4	NP_008853.3:p.(Val657Ala)	NC_000002.11:g.165997210A>G	VUS	1 lab	16ce38a314
16:2166901 PKD1 G>A	16	2166901	2166901	G	A	PKD1	c.1539C>T	NM_001009944.3	NP_001009944.3:p.(Pro513=)	NC_000016.9:g.2166901G>A	(Likely) benign	1 lab	16d11f1a9b
17:37008982 RPL23 G>C	17	37008982	37008982	G	C	RPL23	c.101C>G	NM_000978.4	NP_000969.1:p.(Ala34Gly)	NC_000017.10:g.37008982G>C	VUS	1 lab	16d14e11cf
19:50338786 MED25 T>A	19	50338786	50338786	T	A	MED25	c.1675-5T>A	NM_030973.4	NP_112235.2:p.?	NC_000019.9:g.50338786T>A	VUS	1 lab	16d3851edc
9:134381495 POMT1 T>C	9	134381495	134381495	T	C	POMT1	c.123-6T>C	NM_001136113.2	NP_001129585.1:p.?	NC_000009.11:g.134381495T>C	(Likely) benign	1 lab	1aeb149e96
4:47663844 CORIN C>A	4	47663844	47663844	C	A	CORIN	c.1619G>T	NM_006587.4	NP_006578.2:p.(Cys540Phe)	NC_000004.11:g.47663844C>A	VUS	1 lab	16d5394071
11:103104827 DYNC2H1 A>G	11	103104827	103104827	A	G	DYNC2H1	c.9505A>G	NM_001377.3	NP_001368.2:p.(Ile3169Val)	NC_000011.9:g.103104827A>G	(Likely) benign	1 lab	16d59d085b
X:152719969 HAUS7 GGGGAGGGAGGGA>G	X	152719969	152720006	GGGGAGGGAGGGA	G	HAUS7	c.931-15_931-4del	NM_001385482.1	NP_001372411.1:p.?	NC_000023.10:g.152719995_152720006del	VUS	1 lab	16d60282b5
4:6290837 WFS1 C>T	4	6290837	6290837	C	T	WFS1	c.439C>T	NM_006005.3	NP_005996.2:p.(Arg147Trp)	NC_000004.11:g.6290837C>T	VUS	1 lab	16d99bf2f1
6:83900538 PGM3 T>A	6	83900538	83900538	T	A	PGM3	c.194A>T	NM_015599.3	NP_056414.1:p.(His65Leu)	NC_000006.11:g.83900538T>A	VUS	1 lab	16d9c1e636
19:1466229 APC2 G>A	19	1466229	1466229	G	A	APC2	c.2929G>A	NM_005883.3	NP_005874.1:p.(Glu977Lys)	NC_000019.9:g.1466229G>A	(Likely) benign	1 lab	16da0fa118
14:39508297 SEC23A G>A	14	39508297	39508297	G	A	SEC23A	c.2146C>T	NM_006364.4	NP_006355.2:p.(Arg716Cys)	NC_000014.8:g.39508297G>A	VUS	1 lab	16db3d2744
19:3982326 EEF2 C>T	19	3982326	3982326	C	T	EEF2	c.709G>A	NM_001961.4	NP_001952.1:p.(Ala237Thr)	NC_000019.9:g.3982326C>T	VUS	1 lab	16dc4f2357
9:100617283 FOXE1 C>G	9	100617283	100617283	C	G	FOXE1	c.1087C>G	NM_004473.4	NP_004464.2:p.(Pro363Ala)	NC_000009.11:g.100617283C>G	VUS	1 lab	16dcf36ff9
16:20998778 DNAH3 T>G	16	20998778	20998778	T	G	DNAH3	c.6745-8A>C	NM_001347886.2	NP_001334815.1:p.?	NC_000016.9:g.20998778T>G	(Likely) benign	1 lab	16dcf3a4bf
17:60140602 MED13 T>G	17	60140602	60140602	T	G	MED13	c.127A>C	NM_005121.3	NP_005112.2:p.(Ile43Leu)	NC_000017.10:g.60140602T>G	VUS	1 lab	16ddb0baa6
2:3391854 TRAPPC12 G>A	2	3391854	3391854	G	A	TRAPPC12	c.460G>A	NM_016030.6	NP_057114.5:p.(Ala154Thr)	NC_000002.11:g.3391854G>A	VUS	1 lab	1ab255f09a
10:16878245 CUBN T>C	10	16878245	16878245	T	C	CUBN	c.10169A>G	NM_001081.4	NP_001072.2:p.(Tyr3390Cys)	NC_000010.10:g.16878245T>C	VUS	1 lab	16dfd96785
2:130910247 SMPD4 CGAA>C	2	130910247	130910254	CGAA	C	SMPD4	c.2362_2364del	NM_017951.5	NP_060421.3:p.(Phe788del)	NC_000002.11:g.130910252_130910254del	VUS	1 lab	16e05a106c
2:189864075 COL3A1 G>T	2	189864075	189864075	G	T	COL3A1	c.2087G>T	NM_000090.4	NP_000081.2:p.(Gly696Val)	NC_000002.11:g.189864075G>T	(Likely) pathogenic	1 lab	16e1f5fe90
16:2138075 TSC2 G>A	16	2138075	2138075	G	A	TSC2	c.5095G>A	NM_000548.5	NP_000539.2:p.(Val1699Met)	NC_000016.9:g.2138075G>A	(Likely) benign	1 lab	16e2b9b27b
13:35735938 NBEA T>A	13	35735938	35735938	T	A	NBEA	c.3913T>A	NM_001385012.1	NP_001371941.1:p.(Leu1305Ile)	NC_000013.10:g.35735938T>A	(Likely) benign	1 lab	16e3a764bf
11:67804025 NDUFS8 G>A	11	67804025	67804025	G	A	NDUFS8	c.598G>A	NM_002496.4	NP_002487.1:p.(Ala200Thr)	NC_000011.9:g.67804025G>A	VUS	1 lab	16e46776dd
15:90209000 PLIN1 G>T	15	90209000	90209000	G	T	PLIN1	c.1383C>A	NM_002666.5	NP_002657.3:p.(Ser461Arg)	NC_000015.9:g.90209000G>T	(Likely) benign	1 lab	16e4aef110
5:34930026 DNAJC21 G>A	5	34930026	34930026	G	A	DNAJC21	c.97+5G>A	NM_194283.4	NP_919259.3:p.?	NC_000005.9:g.34930026G>A	(Likely) benign	1 lab	1aeb5fd0b9
12:22086744 ABCC9 C>T	12	22086744	22086744	C	T	ABCC9	c.256G>A	NM_020297.4	NP_064693.2:p.(Glu86Lys)	NC_000012.11:g.22086744C>T	VUS	1 lab	1ab2ed19c5
22:26165404 MYO18B G>C	22	26165404	26165404	G	C	MYO18B	c.1512+9G>C	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26165404G>C	(Likely) benign	1 lab	16e709c9c3
19:17394322 ANKLE1 GA>G	19	17394322	17394323	GA	G	ANKLE1	c.750del	NM_152363.6	NP_689576.6:p.(Leu251PhefsTer21)	NC_000019.9:g.17394323del	VUS	1 lab	16e8097bdc
8:11569202 GATA4 C>A	8	11569202	11569202	C	A	GATA4	c.616+2765C>A	NM_001308093.3	NP_001295022.1:p.?	NC_000008.10:g.11569202C>A	VUS	1 lab	16e8502f24
X:131214246 FRMD7 C>A	X	131214246	131214246	C	A	FRMD7	c.954G>T	NM_194277.3	NP_919253.1:p.(Leu318=)	NC_000023.10:g.131214246C>A	(Likely) benign	1 lab	16e893e4be
11:93517833 MED17 G>C	11	93517833	93517833	G	C	MED17	c.154G>C	NM_004268.5	NP_004259.3:p.(Gly52Arg)	NC_000011.9:g.93517833G>C	VUS	1 lab	16e8f5955a
1:19420452 UBR4 T>C	1	19420452	19420452	T	C	UBR4	c.13928A>G	NM_020765.3	NP_065816.2:p.(Asn4643Ser)	NC_000001.10:g.19420452T>C	VUS	1 lab	16eb7ab143
X:140992860 MAGEC1 T>C	X	140992860	140992860	T	C	MAGEC1	c.2T>C	NM_005462.5	NP_005453.2:p.(Met1?)	NC_000023.10:g.140992860T>C	(Likely) benign	1 lab	16eb9bba1f
7:116937666 WNT2 C>T	7	116937666	116937666	C	T	WNT2	c.853G>A	NM_003391.3	NP_003382.1:p.(Gly285Ser)	NC_000007.13:g.116937666C>T	VUS	1 lab	16ed0ed680
X:150912824 CNGA2 C>A	X	150912824	150912824	C	A	CNGA2	c.1849C>A	NM_005140.3	NP_005131.1:p.(Arg617Ser)	NC_000023.10:g.150912824C>A	VUS	1 lab	16eee03ce5
11:71209438 NADSYN1 T>A	11	71209438	71209438	T	A	NADSYN1	c.1934T>A	NM_018161.5	NP_060631.2:p.(Met645Lys)	NC_000011.9:g.71209438T>A	VUS	1 lab	16efd25ef6
2:176957801 HOXD13 A>AGCGGCGGCT	2	176957801	176957818	A	AGCGGCGGCT	HOXD13	c.192_200dup	NM_000523.4	NP_000514.2:p.(Ala69_Ala71dup)	NC_000002.11:g.176957810_176957818dup	(Likely) benign	1 lab	16f0da9c93
8:12044349 FAM86B1 C>T	8	12044349	12044349	C	T	FAM86B1	c.241-7G>A	NM_001083537.4	NP_001077006.1:p.?	NC_000008.10:g.12044349C>T	(Likely) benign	1 lab	16f0eb3715
7:103292236 RELN A>G	7	103292236	103292236	A	G	RELN	c.1764T>C	NM_005045.4	NP_005036.2:p.(Ser588=)	NC_000007.13:g.103292236A>G	(Likely) benign	1 lab	1ab406d032
X:109924715 CHRDL1 C>T	X	109924715	109924715	C	T	CHRDL1	c.1151G>A	NM_001143981.2	NP_001137453.1:p.(Arg384Gln)	NC_000023.10:g.109924715C>T	(Likely) benign	1 lab	16f74e81dc
1:120050115 HSD3B1 T>A	1	120050115	120050115	T	A	HSD3B1	c.16T>A	NM_000862.3	NP_000853.1:p.(Cys6Ser)	NC_000001.10:g.120050115T>A	(Likely) benign	1 lab	16f78e16d8
3:47127718 SETD2 G>A	3	47127718	47127718	G	A	SETD2	c.5364C>T	NM_014159.7	NP_054878.5:p.(Asp1788=)	NC_000003.11:g.47127718G>A	(Likely) benign	1 lab	16f86c9d14
10:89505650 PAPSS2 A>G	10	89505650	89505650	A	G	PAPSS2	c.1783A>G	NM_001015880.2	NP_001015880.1:p.(Asn595Asp)	NC_000010.10:g.89505650A>G	(Likely) benign	1 lab	16fa64d928
22:32016610 PISD T>C	22	32016610	32016610	T	C	PISD	c.934A>G	NM_001326411.2	NP_001313340.1:p.(Lys312Glu)	NC_000022.10:g.32016610T>C	(Likely) benign	1 lab	16fd0e0aa0
1:55319293 DHCR24 G>A	1	55319293	55319293	G	A	DHCR24	c.1219-8C>T	NM_014762.4	NP_055577.1:p.?	NC_000001.10:g.55319293G>A	(Likely) benign	1 lab	16fdf765cb
X:70644095 TAF1 AT>A	X	70644095	70644098	AT	A	TAF1	c.4753+10del	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70644098del	(Likely) benign	1 lab	16fe18b403
8:97243734 UQCRB C>T	8	97243734	97243734	C	T	UQCRB	c.258+268G>A	NM_006294.5	NP_006285.1:p.?	NC_000008.10:g.97243734C>T	(Likely) benign	1 lab	1700495414
17:31261307 TMEM98 A>G	17	31261307	31261307	A	G	TMEM98	c.264-2A>G	NM_015544.3	NP_056359.2:p.?	NC_000017.10:g.31261307A>G	(Likely) pathogenic	1 lab	17020355ec
16:89262557 SLC22A31 C>G	16	89262557	89262557	C	G	SLC22A31	c.1191G>C	NM_001384763.1	NP_001371692.1:p.(Glu397Asp)	NC_000016.9:g.89262557C>G	VUS	1 lab	170323f2a6
20:34785931 EPB41L1 T>A	20	34785931	34785931	T	A	EPB41L1	c.1636T>A	NM_012156.2	NP_036288.2:p.(Ser546Thr)	NC_000020.10:g.34785931T>A	(Likely) benign	1 lab	17078c2344
2:26536623 ADGRF3 C>T	2	26536623	26536623	C	T	ADGRF3	c.1072+5G>A	NM_001321971.2	NP_001308900.1:p.?	NC_000002.11:g.26536623C>T	VUS	1 lab	1707a1f7e2
7:142460374 PRSS1 A>G	7	142460374	142460374	A	G	PRSS1	c.547A>G	NM_002769.5	NP_002760.1:p.(Met183Val)	NC_000007.13:g.142460374A>G	(Likely) benign	1 lab	170a80e354
19:10077032 COL5A3 C>T	19	10077032	10077032	C	T	COL5A3	c.4740G>A	NM_015719.4	NP_056534.2:p.(Ala1580=)	NC_000019.9:g.10077032C>T	VUS	1 lab	170af75ac5
2:44565662 PREPL G>A	2	44565662	44565662	G	A	PREPL	c.716C>T	NM_001171613.2	NP_001165084.1:p.(Ala239Val)	NC_000002.11:g.44565662G>A	(Likely) benign	1 lab	170b9dda9f
14:35483100 SRP54 A>G	14	35483100	35483100	A	G	SRP54	c.878A>G	NM_003136.4	NP_003127.1:p.(Lys293Arg)	NC_000014.8:g.35483100A>G	VUS	1 lab	170ba07a96
19:49994740 RPL13A C>A	19	49994740	49994740	C	A	RPL13A	c.461C>A	NM_012423.4	NP_036555.1:p.(Ala154Asp)	NC_000019.9:g.49994740C>A	(Likely) benign	1 lab	170d25d333
20:60920908 LAMA5 G>A	20	60920908	60920908	G	A	LAMA5	c.1443C>T	NM_005560.6	NP_005551.3:p.(Thr481=)	NC_000020.10:g.60920908G>A	(Likely) benign	1 lab	170e2f314c
17:78063998 CCDC40 G>A	17	78063998	78063998	G	A	CCDC40	c.2832+315G>A	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78063998G>A	(Likely) benign	1 lab	170fbe0576
2:166806014 TTC21B C>T	2	166806014	166806014	C	T	TTC21B	c.152G>A	NM_024753.5	NP_079029.3:p.(Gly51Asp)	NC_000002.11:g.166806014C>T	VUS	1 lab	17102658a8
14:75515817 MLH3 A>G	14	75515817	75515817	A	G	MLH3	c.542T>C	NM_001040108.2	NP_001035197.1:p.(Met181Thr)	NC_000014.8:g.75515817A>G	VUS	1 lab	1711cd561d
10:75532435 POFUT4 C>G	10	75532435	75532435	C	G	POFUT4	c.344C>G	NM_173540.3	NP_775811.2:p.(Ser115Trp)	NC_000010.10:g.75532435C>G	(Likely) benign	1 lab	171244cbf6
2:61258844 PEX13 G>T	2	61258844	61258844	G	T	PEX13	c.383G>T	NM_002618.4	NP_002609.1:p.(Gly128Val)	NC_000002.11:g.61258844G>T	VUS	1 lab	17124bfa22
8:61768704 CHD7 C>A	8	61768704	61768704	C	A	CHD7	c.7107C>A	NM_017780.4	NP_060250.2:p.(Val2369=)	NC_000008.10:g.61768704C>A	VUS	1 lab	1abccda311
16:86545083 FOXF1 G>A	16	86545083	86545083	G	A	FOXF1	c.908G>A	NM_001451.3	NP_001442.2:p.(Ser303Asn)	NC_000016.9:g.86545083G>A	(Likely) benign	1 lab	1713d4fe3e
2:71891404 DYSF C>T	2	71891404	71891404	C	T	DYSF	c.5010C>T	NM_001130987.2	NP_001124459.1:p.(Phe1670=)	NC_000002.11:g.71891404C>T	(Likely) benign	1 lab	17142e259b
1:158641441 SPTA1 T>C	1	158641441	158641441	T	C	SPTA1	c.1489-198A>G	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158641441T>C	(Likely) benign	1 lab	1af59bc455
12:4653063 RAD51AP1 A>C	12	4653063	4653063	A	C	RAD51AP1	c.202A>C	NM_006479.5	NP_006470.1:p.(Lys68Gln)	NC_000012.11:g.4653063A>C	(Likely) benign	1 lab	171703fccc
6:47574021 CD2AP C>T	6	47574021	47574021	C	T	CD2AP	c.1530+8C>T	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47574021C>T	VUS	1 lab	17174848a4
8:97157179 GDF6 G>T	8	97157179	97157179	G	T	GDF6	c.980C>A	NM_001001557.4	NP_001001557.1:p.(Pro327His)	NC_000008.10:g.97157179G>T	(Likely) benign	1 lab	1717721676
7:44187346 GCK C>T	7	44187346	44187346	C	T	GCK	c.766G>A	NM_000162.5	NP_000153.1:p.(Glu256Lys)	NC_000007.13:g.44187346C>T	(Likely) pathogenic	1 lab	1717b5073d
1:212912926 NSL1 A>G	1	212912926	212912926	A	G	NSL1	c.517T>C	NM_015471.4	NP_056286.3:p.(Leu173=)	NC_000001.10:g.212912926A>G	(Likely) benign	1 lab	1718452f13
5:180046108 FLT4 G>C	5	180046108	180046108	G	C	FLT4	c.2763C>G	NM_182925.5	NP_891555.2:p.(Gly921=)	NC_000005.9:g.180046108G>C	(Likely) benign	1 lab	17191d8606
1:27089560 ARID1A G>T	1	27089560	27089560	G	T	ARID1A	c.2516G>T	NM_006015.6	NP_006006.3:p.(Gly839Val)	NC_000001.10:g.27089560G>T	(Likely) benign	1 lab	171a01a973
2:220337606 SPEG C>T	2	220337606	220337606	C	T	SPEG	c.3941-6C>T	NM_005876.5	NP_005867.3:p.?	NC_000002.11:g.220337606C>T	(Likely) benign	1 lab	171c8aa833
2:217012900 XRCC5 C>T	2	217012900	217012900	C	T	XRCC5	c.1571C>T	NM_021141.4	NP_066964.1:p.(Thr524Ile)	NC_000002.11:g.217012900C>T	(Likely) benign	1 lab	171d05fe1e
10:97423877 TCTN3 TG>T	10	97423877	97423880	TG	T	TCTN3	c.1770del	NM_015631.6	NP_056446.4:p.(Ile591SerfsTer14)	NC_000010.10:g.97423880del	VUS	1 lab	171d9a3369
11:128710059 KCNJ1 T>C	11	128710059	128710059	T	C	KCNJ1	c.80A>G	NM_153766.3	NP_722450.1:p.(Asp27Gly)	NC_000011.9:g.128710059T>C	VUS	1 lab	171df3c179
2:27589688 EIF2B4 C>G	2	27589688	27589688	C	G	EIF2B4	c.1129G>C	NM_001034116.2	NP_001029288.1:p.(Val377Leu)	NC_000002.11:g.27589688C>G	VUS	1 lab	171df61a9a
11:124742918 ROBO3 G>A	11	124742918	124742918	G	A	ROBO3	c.1469G>A	NM_022370.4	NP_071765.2:p.(Trp490Ter)	NC_000011.9:g.124742918G>A	(Likely) pathogenic	1 lab	171f7bb361
10:62648276 RHOBTB1 C>G	10	62648276	62648276	C	G	RHOBTB1	c.1150G>C	NM_014836.5	NP_055651.1:p.(Glu384Gln)	NC_000010.10:g.62648276C>G	VUS	1 lab	171fa58c34
14:96775935 ATG2B T>C	14	96775935	96775935	T	C	ATG2B	c.4162-4A>G	NM_018036.7	NP_060506.6:p.?	NC_000014.8:g.96775935T>C	VUS	1 lab	1720a037e6
15:28424372 HERC2 A>G	15	28424372	28424372	A	G	HERC2	c.8938-3T>C	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28424372A>G	(Likely) benign	1 lab	1721194954
8:99162828 POP1 C>T	8	99162828	99162828	C	T	POP1	c.2018C>T	NM_001145860.2	NP_001139332.1:p.(Ala673Val)	NC_000008.10:g.99162828C>T	VUS	1 lab	17213ea481
11:1477725 BRSK2 G>A	11	1477725	1477725	G	A	BRSK2	c.1816G>A	NM_001256627.2	NP_001243556.1:p.(Gly606Ser)	NC_000011.9:g.1477725G>A	VUS	1 lab	17217d07d8
2:122202509 CLASP1 G>A	2	122202509	122202509	G	A	CLASP1	c.1912+2404C>T	NM_001395891.1	NP_001382820.1:p.?	NC_000002.11:g.122202509G>A	(Likely) benign	1 lab	1721be47af
19:3750181 TJP3 C>T	19	3750181	3750181	C	T	TJP3	c.2656C>T	NM_001267560.2	NP_001254489.1:p.(Arg886Ter)	NC_000019.9:g.3750181C>T	VUS	1 lab	1722005bc6
5:34941249 DNAJC21 A>T	5	34941249	34941249	A	T	DNAJC21	c.944A>T	NM_001012339.3	NP_001012339.2:p.(Tyr315Phe)	NC_000005.9:g.34941249A>T	VUS	1 lab	17224a861e
2:217234573 MARCHF4 A>T	2	217234573	217234573	A	T	MARCHF4	c.411T>A	NM_020814.3	NP_065865.1:p.(Asp137Glu)	NC_000002.11:g.217234573A>T	(Likely) benign	1 lab	1722e96ab1
17:61417472 TANC2 A>G	17	61417472	61417472	A	G	TANC2	c.1586A>G	NM_001394998.1	NP_001381927.1:p.(Tyr529Cys)	NC_000017.10:g.61417472A>G	(Likely) benign	1 lab	172324bda5
7:56085008 PSPH T>A	7	56085008	56085008	T	A	PSPH	c.340A>T	NM_004577.4	NP_004568.2:p.(Ser114Cys)	NC_000007.13:g.56085008T>A	VUS	1 lab	1723cabfc3
2:179424625 TTN G>C	2	179424625	179424625	G	C	TTN	c.86234C>G	NM_001267550.2	NP_001254479.2:p.(Ala28745Gly)	NC_000002.11:g.179424625G>C	VUS	1 lab	172555f961
1:183209432 LAMC2 TA>T	1	183209432	183209433	TA	T	LAMC2	c.3235del	NM_005562.3	NP_005553.2:p.(Thr1079GlnfsTer24)	NC_000001.10:g.183209433del	(Likely) pathogenic	1 lab	172606b754
10:124335987 DMBT1 A>T	10	124335987	124335987	A	T	DMBT1	c.356A>T	NM_001377530.1	NP_001364459.1:p.(Tyr119Phe)	NC_000010.10:g.124335987A>T	(Likely) benign	1 lab	1726f172d2
17:1611356 TLCD2 G>A	17	1611356	1611356	G	A	TLCD2	c.503C>T	NM_001164407.2	NP_001157879.1:p.(Ala168Val)	NC_000017.10:g.1611356G>A	VUS	1 lab	1728653233
1:152281876 FLG T>C	1	152281876	152281876	T	C	FLG	c.5486A>G	NM_002016.2	NP_002007.1:p.(Tyr1829Cys)	NC_000001.10:g.152281876T>C	(Likely) benign	1 lab	172a59ea61
18:48584794 SMAD4 A>C	18	48584794	48584794	A	C	SMAD4	c.872A>C	NM_005359.6	NP_005350.1:p.(His291Pro)	NC_000018.9:g.48584794A>C	VUS	1 lab	1ac2f3aa66
X:8434321 VCX3B C>T	X	8434321	8434321	C	T	VCX3B	c.638C>T	NM_001001888.4	NP_001001888.3:p.(Pro213Leu)	NC_000023.10:g.8434321C>T	(Likely) benign	1 lab	172c888a93
1:43212714 P3H1 C>T	1	43212714	43212714	C	T	P3H1	c.2056-191G>A	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43212714C>T	(Likely) benign	1 lab	172cdd9943
7:151860500 KMT2C T>C	7	151860500	151860500	T	C	KMT2C	c.10162A>G	NM_170606.3	NP_733751.2:p.(Asn3388Asp)	NC_000007.13:g.151860500T>C	VUS	1 lab	172d01dbe3
20:57415229 GNAS-AS1 C>T	20	57415229	57415229	C	T	GNAS-AS1	n.672+1763G>A	NR_185847.1		NC_000020.10:g.57415229C>T	(Likely) benign	1 lab	1755b61bfc
5:140307272 PCDHAC1 T>TG	5	140307272	140307276	T	TG	PCDHAC1	c.799dup	NM_018898.5	NP_061721.2:p.(Glu267GlyfsTer23)	NC_000005.9:g.140307276dup	VUS	1 lab	172d6614dc
1:23664977 HNRNPR C>T	1	23664977	23664977	C	T	HNRNPR	c.276+6G>A	NM_005826.5	NP_005817.1:p.?	NC_000001.10:g.23664977C>T	(Likely) benign	1 lab	172f227daf
14:54420096 BMP4 G>C	14	54420096	54420096	G	C	BMP4	c.-110C>G	NM_001202.6	NP_001193.2:p.?	NC_000014.8:g.54420096G>C	VUS	1 lab	17304c8fc2
22:17662450 ADA2 C>CCAA	22	17662450	17662455	C	CCAA	ADA2	c.1456_1458dup	NM_001282225.2	NP_001269154.1:p.(Leu486dup)	NC_000022.10:g.17662453_17662455dup	VUS	1 lab	1730f34fa7
7:44189552 GCK A>G	7	44189552	44189552	A	G	GCK	c.579+16T>C	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44189552A>G	VUS	1 lab	1731948630
12:133147082 FBRSL1 C>CG	12	133147082	133147084	C	CG	FBRSL1	c.1171dup	NM_001367871.1	NP_001354800.1:p.(Ala391GlyfsTer71)	NC_000012.11:g.133147084dup	(Likely) benign	1 lab	1731b796f4
4:190873379 FRG1 A>G	4	190873379	190873379	A	G	FRG1	c.196A>G	NM_004477.3	NP_004468.1:p.(Lys66Glu)	NC_000004.11:g.190873379A>G	(Likely) benign	1 lab	1ac3a483f9
X:129790609 ENOX2 T>C	X	129790609	129790609	T	C	ENOX2	c.1075A>G	NM_006375.4	NP_006366.2:p.(Met359Val)	NC_000023.10:g.129790609T>C	VUS	1 lab	1732b2575b
15:74487637 STRA6 G>T	15	74487637	74487637	G	T	STRA6	c.597+6C>A	NM_022369.4	NP_071764.3:p.?	NC_000015.9:g.74487637G>T	(Likely) benign	1 lab	1733022d98
2:179426730 TTN G>A	2	179426730	179426730	G	A	TTN	c.84129C>T	NM_001267550.2	NP_001254479.2:p.(Ser28043=)	NC_000002.11:g.179426730G>A	(Likely) benign	1 lab	1ac703192c
11:103062250 DYNC2H1 G>A	11	103062250	103062250	G	A	DYNC2H1	c.7442G>A	NM_001377.3	NP_001368.2:p.(Arg2481Gln)	NC_000011.9:g.103062250G>A	VUS	1 lab	1733ace9c6
11:86868373 TMEM135 T>A	11	86868373	86868373	T	A	TMEM135	c.397-10T>A	NM_022918.4	NP_075069.3:p.?	NC_000011.9:g.86868373T>A	(Likely) benign	1 lab	1737dfb823
17:1401231 INPP5K T>G	17	1401231	1401231	T	G	INPP5K	c.962A>C	NM_016532.4	NP_057616.2:p.(Glu321Ala)	NC_000017.10:g.1401231T>G	VUS	1 lab	1737ec47f6
6:41773976 USP49 G>C	6	41773976	41773976	G	C	USP49	c.746C>G	NM_001286554.2	NP_001273483.1:p.(Ala249Gly)	NC_000006.11:g.41773976G>C	(Likely) benign	1 lab	173872f449
17:54912322 DGKE C>T	17	54912322	54912322	C	T	DGKE	c.166C>T	NM_003647.3	NP_003638.1:p.(Arg56Cys)	NC_000017.10:g.54912322C>T	VUS	1 lab	1738c3c020
2:241676723 KIF1A G>A	2	241676723	241676723	G	A	KIF1A	c.3902-138C>T	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241676723G>A	(Likely) benign	1 lab	173a4b17a8
17:40362418 STAT5B C>T	17	40362418	40362418	C	T	STAT5B	c.1775+3G>A	NM_012448.4	NP_036580.2:p.?	NC_000017.10:g.40362418C>T	(Likely) benign	1 lab	173a87e151
7:6862999 CCZ1B C>T	7	6862999	6862999	C	T	CCZ1B	c.391-8G>A	NM_198097.5	NP_932765.1:p.?	NC_000007.13:g.6862999C>T	VUS	1 lab	173c348aa5
6:51586831 PKHD1 GA>G	6	51586831	51586833	GA	G	PKHD1	c.10156+22351del	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51586833del	(Likely) benign	1 lab	173cc76313
19:45853696 ERCC2 C>G	19	45853696	45853696	C	G	ERCC2	c.*1191G>C	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45853696C>G	VUS	1 lab	173d04086f
2:179463906 TTN C>T	2	179463906	179463906	C	T	TTN	c.56614G>A	NM_001267550.2	NP_001254479.2:p.(Asp18872Asn)	NC_000002.11:g.179463906C>T	VUS	1 lab	173ddee814
17:48703699 CACNA1G C>T	17	48703699	48703699	C	T	CACNA1G	c.6721C>T	NM_018896.5	NP_061496.2:p.(Arg2241Trp)	NC_000017.10:g.48703699C>T	(Likely) benign	1 lab	173eee8f11
17:1576778 PRPF8 A>G	17	1576778	1576778	A	G	PRPF8	c.3530T>C	NM_006445.4	NP_006436.3:p.(Val1177Ala)	NC_000017.10:g.1576778A>G	VUS	1 lab	173ff09e06
16:66851321 NAE1 G>T	16	66851321	66851321	G	T	NAE1	c.684+7C>A	NM_003905.4	NP_003896.1:p.?	NC_000016.9:g.66851321G>T	(Likely) benign	1 lab	174002e51c
17:26978797 SDF2 A>AGT	17	26978797	26978819	A	AGT	SDF2	c.349-2505_349-2504dup	NM_006923.4	NP_008854.2:p.?	NC_000017.10:g.26978818_26978819dup	VUS	1 lab	17408675ce
15:89390549 ACAN G>C	15	89390549	89390549	G	C	ACAN	c.1505G>C	NM_001369268.1	NP_001356197.1:p.(Arg502Pro)	NC_000015.9:g.89390549G>C	VUS	1 lab	174090123f
1:43393466 SLC2A1 C>T	1	43393466	43393466	C	T	SLC2A1	c.1088G>A	NM_006516.4	NP_006507.2:p.(Trp363Ter)	NC_000001.10:g.43393466C>T	(Likely) pathogenic	1 lab	17416d4de5
11:125891388 CDON G>A	11	125891388	125891388	G	A	CDON	c.104C>T	NM_001378964.1	NP_001365893.1:p.(Pro35Leu)	NC_000011.9:g.125891388G>A	(Likely) benign	1 lab	174174f61e
9:73164576 TRPM3 C>T	9	73164576	73164576	C	T	TRPM3	c.3589G>A	NM_001366145.2	NP_001353074.1:p.(Asp1197Asn)	NC_000009.11:g.73164576C>T	(Likely) benign	1 lab	1743b31ea8
11:118381095 KMT2A C>T	11	118381095	118381095	C	T	KMT2A	c.11071+262C>T	NM_001197104.2	NP_001184033.1:p.?	NC_000011.9:g.118381095C>T	(Likely) benign	1 lab	174475ef59
5:225649 SDHA C>T	5	225649	225649	C	T	SDHA	c.428C>T	NM_004168.4	NP_004159.2:p.(Thr143Met)	NC_000005.9:g.225649C>T	VUS	1 lab	1744af189a
1:1275663 DVL1 T>C	1	1275663	1275663	T	C	DVL1	c.733A>G	NM_001330311.2	NP_001317240.1:p.(Met245Val)	NC_000001.10:g.1275663T>C	(Likely) benign	1 lab	174659ac74
3:148858165 HPS3 G>A	3	148858165	148858165	G	A	HPS3	c.592G>A	NM_032383.5	NP_115759.2:p.(Val198Ile)	NC_000003.11:g.148858165G>A	(Likely) benign	1 lab	1af7b8d3d9
3:41266538 CTNNB1 C>CAA	3	41266538	41266540	C	CAA	CTNNB1	c.336_337insAA	NM_001904.4	NP_001895.1:p.(Gln113AsnfsTer21)	NC_000003.11:g.41266539_41266540insAA	VUS	1 lab	17488b80dd
2:165953878 SCN3A T>C	2	165953878	165953878	T	C	SCN3A	c.4123A>G	NM_006922.4	NP_008853.3:p.(Ile1375Val)	NC_000002.11:g.165953878T>C	(Likely) benign	1 lab	1748aee9ae
22:41914494 ACO2 A>G	22	41914494	41914494	A	G	ACO2	c.950A>G	NM_001098.3	NP_001089.1:p.(Asn317Ser)	NC_000022.10:g.41914494A>G	VUS	1 lab	1749f907c1
17:46878983 TTLL6 G>A	17	46878983	46878983	G	A	TTLL6	c.384C>T	NM_001130918.3	NP_001124390.1:p.(Tyr128=)	NC_000017.10:g.46878983G>A	VUS	1 lab	174a39a279
6:66045007 EYS TTCAC>T	6	66045007	66045014	TTCAC	T	EYS	c.1628_1631del	NM_001142800.2	NP_001136272.1:p.(Ser543LysfsTer66)	NC_000006.11:g.66045011_66045014del	(Likely) pathogenic	1 lab	174ae2d1a7
11:108014748 ACAT1 A>G	11	108014748	108014748	A	G	ACAT1	c.979A>G	NM_000019.4	NP_000010.1:p.(Ile327Val)	NC_000011.9:g.108014748A>G	VUS	1 lab	174c8a1b8d
19:11565441 ELAVL3 T>C	19	11565441	11565441	T	C	ELAVL3	c.1004A>G	NM_001420.4	NP_001411.2:p.(Tyr335Cys)	NC_000019.9:g.11565441T>C	VUS	1 lab	174ecbbd4e
2:100052398 REV1 T>G	2	100052398	100052398	T	G	REV1	c.1219A>C	NM_016316.4	NP_057400.1:p.(Met407Leu)	NC_000002.11:g.100052398T>G	VUS	1 lab	174ee14c9f
18:34335186 FHOD3 G>A	18	34335186	34335186	G	A	FHOD3	c.3812G>A	NM_025135.5	NP_079411.2:p.(Arg1271His)	NC_000018.9:g.34335186G>A	VUS	1 lab	1ac77a8709
12:120653407 PXN G>A	12	120653407	120653407	G	A	PXN	c.2359C>T	NM_001385981.1	NP_001372910.1:p.(Arg787Trp)	NC_000012.11:g.120653407G>A	VUS	1 lab	174effa52e
6:51941088 PKHD1 G>C	6	51941088	51941088	G	C	PKHD1	c.434C>G	NM_138694.4	NP_619639.3:p.(Pro145Arg)	NC_000006.11:g.51941088G>C	VUS	1 lab	175038d4d3
4:73956933 ANKRD17 G>C	4	73956933	73956933	G	C	ANKRD17	c.6412C>G	NM_032217.5	NP_115593.3:p.(Pro2138Ala)	NC_000004.11:g.73956933G>C	(Likely) benign	1 lab	1750902dd2
6:160543053 SLC22A1 C>T	6	160543053	160543053	C	T	SLC22A1	c.86C>T	NM_003057.3	NP_003048.1:p.(Ser29Leu)	NC_000006.11:g.160543053C>T	VUS	1 lab	17523dee3a
17:36646786 ARHGAP23 A>T	17	36646786	36646786	A	T	ARHGAP23	c.3144A>T	NM_001199417.2	NP_001186346.1:p.(Lys1048Asn)	NC_000017.10:g.36646786A>T	(Likely) benign	1 lab	17524ef749
1:158645762 SPTA1 A>G	1	158645762	158645762	A	G	SPTA1	c.1112+169T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158645762A>G	(Likely) benign	1 lab	1af96d6961
8:118849385 EXT1 G>A	8	118849385	118849385	G	A	EXT1	c.1018C>T	NM_000127.3	NP_000118.2:p.(Arg340Cys)	NC_000008.10:g.118849385G>A	(Likely) pathogenic	1 lab	175708443a
2:160289294 BAZ2B T>C	2	160289294	160289294	T	C	BAZ2B	c.1874A>G	NM_013450.4	NP_038478.2:p.(Asp625Gly)	NC_000002.11:g.160289294T>C	(Likely) benign	1 lab	1757287c40
15:89398358 ACAN G>A	15	89398358	89398358	G	A	ACAN	c.2542G>A	NM_001369268.1	NP_001356197.1:p.(Val848Met)	NC_000015.9:g.89398358G>A	(Likely) benign	1 lab	1758377c06
22:21350257 LZTR1 T>C	22	21350257	21350257	T	C	LZTR1	c.2075T>C	NM_006767.4	NP_006758.2:p.(Phe692Ser)	NC_000022.10:g.21350257T>C	VUS	1 lab	17591f85ed
8:11614568 GATA4 C>T	8	11614568	11614568	C	T	GATA4	c.1125C>T	NM_001308093.3	NP_001295022.1:p.(Tyr375=)	NC_000008.10:g.11614568C>T	(Likely) benign	1 lab	175990d6fa
11:66488590 SPTBN2 C>T	11	66488590	66488590	C	T	SPTBN2	c.122G>A	NM_006946.4	NP_008877.2:p.(Arg41His)	NC_000011.9:g.66488590C>T	VUS	1 lab	1759b51fac
21:47831163 PCNT G>C	21	47831163	47831163	G	C	PCNT	c.5176G>C	NM_006031.6	NP_006022.3:p.(Glu1726Gln)	NC_000021.8:g.47831163G>C	VUS	1 lab	175b16de93
1:220275628 IARS2 G>A	1	220275628	220275628	G	A	IARS2	c.699+9G>A	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220275628G>A	(Likely) benign	1 lab	175e98f2c8
17:10538189 MYH3 C>T	17	10538189	10538189	C	T	MYH3	c.4324G>A	NM_002470.4	NP_002461.2:p.(Ala1442Thr)	NC_000017.10:g.10538189C>T	VUS	1 lab	1763544d42
19:12155311 ZNF878 T>G	19	12155311	12155311	T	G	ZNF878	c.905A>C	NM_001080404.3	NP_001073873.2:p.(Glu302Ala)	NC_000019.9:g.12155311T>G	(Likely) benign	1 lab	17641bb146
19:13216392 TRMT1 CTT>C	19	13216392	13216394	CTT	C	TRMT1	c.1610_1611del	NM_001136035.4	NP_001129507.1:p.(Glu537GlyfsTer17)	NC_000019.9:g.13216393_13216394del	VUS	1 lab	17645edce1
16:4852459 ROGDI G>A	16	4852459	4852459	G	A	ROGDI	c.46-5C>T	NM_024589.3	NP_078865.1:p.?	NC_000016.9:g.4852459G>A	VUS	1 lab	1765a7c153
21:47851486 PCNT G>A	21	47851486	47851486	G	A	PCNT	c.8108G>A	NM_006031.6	NP_006022.3:p.(Arg2703Gln)	NC_000021.8:g.47851486G>A	(Likely) benign	1 lab	1765cdcf04
2:179635178 TTN G>A	2	179635178	179635178	G	A	TTN	c.8341C>T	NM_001267550.2	NP_001254479.2:p.(Leu2781Phe)	NC_000002.11:g.179635178G>A	VUS	1 lab	1765d5e8fb
20:9389283 PLCB4 G>A	20	9389283	9389283	G	A	PLCB4	c.1793G>A	NM_001377142.1	NP_001364071.1:p.(Arg598His)	NC_000020.10:g.9389283G>A	VUS	1 lab	1765f6686f
8:11666033 FDFT1 G>T	8	11666033	11666033	G	T	FDFT1	c.100-270G>T	NM_004462.5	NP_004453.3:p.?	NC_000008.10:g.11666033G>T	(Likely) benign	1 lab	1768f3e303
6:43019947 CUL7 C>T	6	43019947	43019947	C	T	CUL7	c.580G>A	NM_014780.5	NP_055595.2:p.(Gly194Arg)	NC_000006.11:g.43019947C>T	VUS	1 lab	176b82cc7b
10:124266937 HTRA1 A>G	10	124266937	124266937	A	G	HTRA1	c.1005+19A>G	NM_002775.5	NP_002766.1:p.?	NC_000010.10:g.124266937A>G	(Likely) benign	1 lab	176db2b23e
22:20307500 DGCR6L G>T	22	20307500	20307500	G	T	DGCR6L	c.12C>A	NM_033257.4	NP_150282.2:p.(Tyr4Ter)	NC_000022.10:g.20307500G>T	(Likely) benign	1 lab	176e537cb8
1:147091662 BCL9 CATG>C	1	147091662	147091667	CATG	C	BCL9	c.1704_1706del	NM_004326.4	NP_004317.2:p.(Met568del)	NC_000001.10:g.147091665_147091667del	VUS	1 lab	176f5df263
11:46916193 LRP4 T>G	11	46916193	46916193	T	G	LRP4	c.1487A>C	NM_002334.4	NP_002325.2:p.(Asn496Thr)	NC_000011.9:g.46916193T>G	VUS	1 lab	17716f4b76
17:29663874 NF1 T>G	17	29663874	29663874	T	G	NF1	c.6369T>G	NM_001042492.3	NP_001035957.1:p.(His2123Gln)	NC_000017.10:g.29663874T>G	VUS	1 lab	1771f09861
17:40375476 STAT5B T>C	17	40375476	40375476	T	C	STAT5B	c.474A>G	NM_012448.4	NP_036580.2:p.(Thr158=)	NC_000017.10:g.40375476T>C	(Likely) benign	1 lab	177248e099
5:77425062 AP3B1 T>C	5	77425062	77425062	T	C	AP3B1	c.1720A>G	NM_003664.4	NP_003655.3:p.(Thr574Ala)	NC_000005.9:g.77425062T>C	(Likely) benign	1 lab	1afc319602
15:25653772 UBE3A A>G	15	25653772	25653772	A	G	UBE3A	c.24T>C	NM_000462.5	NP_000453.2:p.(Tyr8=)	NC_000015.9:g.25653772A>G	(Likely) benign	1 lab	1ac9798937
7:296734 FAM20C G>A	7	296734	296734	G	A	FAM20C	c.1363+5G>A	NM_020223.4	NP_064608.2:p.?	NC_000007.13:g.296734G>A	VUS	1 lab	17742e632d
15:89395096 ACAN TGGATC>T	15	89395096	89395102	TGGATC	T	ACAN	c.2100_2104del	NM_001369268.1	NP_001356197.1:p.(Trp700CysfsTer78)	NC_000015.9:g.89395098_89395102del	(Likely) pathogenic	1 lab	1775363f49
2:179435313 TTN G>T	2	179435313	179435313	G	T	TTN	c.48726C>A	NM_133432.3	NP_597676.3:p.(Tyr16242Ter)	NC_000002.11:g.179435313G>T	(Likely) pathogenic	1 lab	1afcc0f1b4
2:121732691 GLI2 C>G	2	121732691	121732691	C	G	GLI2	c.1317+6C>G	NM_001374353.1	NP_001361282.1:p.?	NC_000002.11:g.121732691C>G	VUS	1 lab	1776e274cd
9:100919864 CORO2A C>G	9	100919864	100919864	C	G	CORO2A	c.79G>C	NM_052820.4	NP_438171.1:p.(Asp27His)	NC_000009.11:g.100919864C>G	VUS	1 lab	177902f8ee
19:7142932 INSR G>A	19	7142932	7142932	G	A	INSR	c.2437C>T	NM_000208.4	NP_000199.2:p.(Arg813Ter)	NC_000019.9:g.7142932G>A	(Likely) pathogenic	1 lab	177947f1bb
17:80049331 FASN A>T	17	80049331	80049331	A	T	FASN	c.1259T>A	NM_004104.5	NP_004095.4:p.(Leu420Gln)	NC_000017.10:g.80049331A>T	(Likely) benign	1 lab	1779a5b9b8
7:47880147 PKD1L1 C>T	7	47880147	47880147	C	T	PKD1L1	c.5464G>A	NM_138295.5	NP_612152.1:p.(Gly1822Ser)	NC_000007.13:g.47880147C>T	VUS	1 lab	177a103f4e
3:9781241 BRPF1 C>G	3	9781241	9781241	C	G	BRPF1	c.1158C>G	NM_001003694.2	NP_001003694.1:p.(Cys386Trp)	NC_000003.11:g.9781241C>G	(Likely) pathogenic	1 lab	177ad96cc7
19:50819329 KCNC3 G>A	19	50819329	50819329	G	A	KCNC3	c.*43C>T	NM_004977.3	NP_004968.2:p.?	NC_000019.9:g.50819329G>A	(Likely) benign	1 lab	177c50a447
7:31011576 GHRHR A>G	7	31011576	31011576	A	G	GHRHR	c.465-2A>G	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31011576A>G	VUS	1 lab	177e12484c
4:88964529 PKD2 C>G	4	88964529	88964529	C	G	PKD2	c.1239C>G	NM_000297.4	NP_000288.1:p.(Val413=)	NC_000004.11:g.88964529C>G	(Likely) pathogenic	1 lab	177e310e72
7:104753016 KMT2E A>T	7	104753016	104753016	A	T	KMT2E	c.4813A>T	NM_182931.3	NP_891847.1:p.(Thr1605Ser)	NC_000007.13:g.104753016A>T	VUS	1 lab	17823a7d86
1:22157979 HSPG2 G>A	1	22157979	22157979	G	A	HSPG2	c.11429C>T	NM_005529.7	NP_005520.4:p.(Ala3810Val)	NC_000001.10:g.22157979G>A	VUS	1 lab	178429cd5b
1:144922583 PDE4DIP G>A	1	144922583	144922583	G	A	PDE4DIP	c.1022C>T	NM_001395426.1	NP_001382355.1:p.(Ser341Leu)	NC_000001.10:g.144922583G>A	VUS	1 lab	178436d619
17:26851738 FOXN1 G>A	17	26851738	26851738	G	A	FOXN1	c.341G>A	NM_001369369.1	NP_001356298.1:p.(Arg114Gln)	NC_000017.10:g.26851738G>A	VUS	1 lab	178583a587
2:191184467 HIBCH G>A	2	191184467	191184467	G	A	HIBCH	c.10C>T	NM_014362.4	NP_055177.2:p.(Arg4Cys)	NC_000002.11:g.191184467G>A	(Likely) benign	1 lab	17859ba69c
8:37688937 ADGRA2 G>A	8	37688937	37688937	G	A	ADGRA2	c.933-4G>A	NM_032777.10	NP_116166.9:p.?	NC_000008.10:g.37688937G>A	(Likely) benign	1 lab	1785a85499
20:9353719 PLCB4 A>G	20	9353719	9353719	A	G	PLCB4	c.712A>G	NM_001377142.1	NP_001364071.1:p.(Thr238Ala)	NC_000020.10:g.9353719A>G	VUS	1 lab	1785ef4ad7
1:144952581 PDE4DIP G>C	1	144952581	144952581	G	C	PDE4DIP	c.525C>G	NM_001395426.1	NP_001382355.1:p.(Ile175Met)	NC_000001.10:g.144952581G>C	VUS	1 lab	178697306e
9:847072 DMRT1 C>T	9	847072	847072	C	T	DMRT1	c.467C>T	NM_021951.3	NP_068770.2:p.(Pro156Leu)	NC_000009.11:g.847072C>T	(Likely) benign	1 lab	1786f4a8d4
12:50482423 SMARCD1 G>A	12	50482423	50482423	G	A	SMARCD1	c.771+3G>A	NM_003076.5	NP_003067.3:p.?	NC_000012.11:g.50482423G>A	(Likely) benign	1 lab	17892dd4f5
1:27059203 ARID1A T>G	1	27059203	27059203	T	G	ARID1A	c.1840T>G	NM_006015.6	NP_006006.3:p.(Ser614Ala)	NC_000001.10:g.27059203T>G	(Likely) benign	1 lab	178b89f254
5:126778804 MEGF10 C>T	5	126778804	126778804	C	T	MEGF10	c.2477C>T	NM_001256545.2	NP_001243474.1:p.(Ala826Val)	NC_000005.9:g.126778804C>T	VUS	1 lab	178e8bd116
20:31017710 ASXL1 C>T	20	31017710	31017710	C	T	ASXL1	c.572C>T	NM_015338.6	NP_056153.2:p.(Ser191Leu)	NC_000020.10:g.31017710C>T	(Likely) benign	1 lab	178ec236dd
11:75282847 SERPINH1 C>G	11	75282847	75282847	C	G	SERPINH1	c.976C>G	NM_001235.5	NP_001226.2:p.(Leu326Val)	NC_000011.9:g.75282847C>G	VUS	1 lab	178f4269de
15:99482546 IGF1R C>T	15	99482546	99482546	C	T	IGF1R	c.3414C>T	NM_000875.5	NP_000866.1:p.(Ala1138=)	NC_000015.9:g.99482546C>T	(Likely) benign	1 lab	1790bd88f4
2:111431883 BUB1 CT>C	2	111431883	111431886	CT	C	BUB1	c.85del	NM_004336.5	NP_004327.1:p.(Arg29AspfsTer6)	NC_000002.11:g.111431886del	VUS	1 lab	179331f537
1:155209863 GBA1 G>A	1	155209863	155209863	G	A	GBA1	c.121C>T	NM_000157.4	NP_000148.2:p.(Arg41Cys)	NC_000001.10:g.155209863G>A	VUS	1 lab	1793e6f61f
20:49571801 DPM1 TA>T	20	49571801	49571802	TA	T	DPM1	c.182del	NM_003859.3	NP_003850.1:p.(Ile61LysfsTer3)	NC_000020.10:g.49571802del	(Likely) pathogenic	1 lab	17943ced37
15:89386801 ACAN G>A	15	89386801	89386801	G	A	ACAN	c.973G>A	NM_001369268.1	NP_001356197.1:p.(Val325Met)	NC_000015.9:g.89386801G>A	VUS	1 lab	17948baf73
10:79396767 KCNMA1 A>G	10	79396767	79396767	A	G	KCNMA1	c.378+256T>C	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.79396767A>G	VUS	1 lab	17950a65d6
7:155595788 SHH C>A	7	155595788	155595788	C	A	SHH	c.1195G>T	NM_000193.4	NP_000184.1:p.(Gly399Trp)	NC_000007.13:g.155595788C>A	VUS	1 lab	1796b72354
20:19955591 RIN2 C>A	20	19955591	19955591	C	A	RIN2	c.922C>A	NM_018993.4	NP_061866.1:p.(Pro308Thr)	NC_000020.10:g.19955591C>A	VUS	1 lab	179744e9fe
16:2154532 PKD1 TG>T	16	2154532	2154535	TG	T	PKD1	c.8127del	NM_001009944.3	NP_001009944.3:p.(Thr2710ProfsTer46)	NC_000016.9:g.2154535del	(Likely) pathogenic	1 lab	179dc97457
12:121416605 HNF1A C>T	12	121416605	121416605	C	T	HNF1A	c.34C>T	NM_000545.8	NP_000536.6:p.(Leu12Phe)	NC_000012.11:g.121416605C>T	(Likely) pathogenic	1 lab	179e75f18c
12:49374330 WNT1 G>A	12	49374330	49374330	G	A	WNT1	c.482G>A	NM_005430.4	NP_005421.1:p.(Gly161Glu)	NC_000012.11:g.49374330G>A	VUS	1 lab	179eb9626b
19:50364771 PNKP T>TG	19	50364771	50364775	T	TG	PNKP	c.1387-5dup	NM_007254.4	NP_009185.2:p.?	NC_000019.9:g.50364775dup	VUS	1 lab	17a0b76c62
9:87366491 NTRK2 G>A	9	87366491	87366491	G	A	NTRK2	c.1297-410G>A	NM_006180.6	NP_006171.2:p.?	NC_000009.11:g.87366491G>A	(Likely) benign	1 lab	17a27fe99f
19:33349380 SLC7A9 C>T	19	33349380	33349380	C	T	SLC7A9	c.943G>A	NM_014270.5	NP_055085.1:p.(Gly315Ser)	NC_000019.9:g.33349380C>T	VUS	1 lab	17a4e69b7c
17:80046740 FASN G>A	17	80046740	80046740	G	A	FASN	c.2317C>T	NM_004104.5	NP_004095.4:p.(Arg773Cys)	NC_000017.10:g.80046740G>A	VUS	1 lab	17a579fee1
2:27591884 EIF2B4 TCTCCAGCTG>T	2	27591884	27591893	TCTCCAGCTG	T	EIF2B4	c.398_406del	NM_001034116.2	NP_001029288.1:p.(Thr133_Glu136delinsLys)	NC_000002.11:g.27591885_27591893del	VUS	1 lab	17a80090cd
1:155206093 GBA1 C>G	1	155206093	155206093	C	G	GBA1	c.1167G>C	NM_001005741.3	NP_001005741.1:p.(Gln389His)	NC_000001.10:g.155206093C>G	VUS	1 lab	1aca3f9f25
20:22564910 FOXA2 A>C	20	22564910	22564910	A	C	FOXA2	c.7T>G	NM_021784.5	NP_068556.2:p.(Ser3Ala)	NC_000020.10:g.22564910A>C	(Likely) benign	1 lab	17a87860de
7:124493170 POT1 T>C	7	124493170	124493170	T	C	POT1	c.725A>G	NM_015450.3	NP_056265.2:p.(Tyr242Cys)	NC_000007.13:g.124493170T>C	VUS	1 lab	17aa901fe2
13:23910648 SACS G>A	13	23910648	23910648	G	A	SACS	c.7367C>T	NM_014363.6	NP_055178.3:p.(Thr2456Ile)	NC_000013.10:g.23910648G>A	(Likely) benign	1 lab	17ab6c38ca
11:108124530 ATM C>T	11	108124530	108124530	C	T	ATM	c.1899-11C>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108124530C>T	(Likely) benign	1 lab	17ab7f6d79
14:50092462 DNAAF2 TTTAAG>T	14	50092462	50092470	TTTAAG	T	DNAAF2	c.2307_2311del	NM_018139.3	NP_060609.2:p.(Asn769LysfsTer7)	NC_000014.8:g.50092466_50092470del	(Likely) pathogenic	1 lab	17adc700c1
16:89831370 FANCA G>C	16	89831370	89831370	G	C	FANCA	c.2706C>G	NM_000135.4	NP_000126.2:p.(Asp902Glu)	NC_000016.9:g.89831370G>C	(Likely) benign	1 lab	17aded202a
19:20807521 ZNF626 T>A	19	20807521	20807521	T	A	ZNF626	c.1162A>T	NM_001076675.3	NP_001070143.1:p.(Lys388Ter)	NC_000019.9:g.20807521T>A	(Likely) benign	1 lab	17ae43b3b6
9:36246246 GNE A>G	9	36246246	36246246	A	G	GNE	c.398T>C	NM_005476.7	NP_005467.1:p.(Ile133Thr)	NC_000009.11:g.36246246A>G	VUS	1 lab	17ae516b9d
2:208631758 FZD5 G>A	2	208631758	208631758	G	A	FZD5	c.1706C>T	NM_003468.4	NP_003459.2:p.(Pro569Leu)	NC_000002.11:g.208631758G>A	(Likely) benign	1 lab	17b01c1c02
11:17190986 PIK3C2A C>G	11	17190986	17190986	C	G	PIK3C2A	c.303G>C	NM_002645.4	NP_002636.2:p.(Glu101Asp)	NC_000011.9:g.17190986C>G	VUS	1 lab	17b0a031af
5:180030319 FLT4 GGCC>G	5	180030319	180030331	GGCC	G	FLT4	c.3962_3964del	NM_182925.5	NP_891555.2:p.(Arg1321del)	NC_000005.9:g.180030329_180030331del	VUS	1 lab	17b152fee4
X:148564453 IDS G>A	X	148564453	148564453	G	A	IDS	c.1477C>T	NM_000202.8	NP_000193.1:p.(Arg493Cys)	NC_000023.10:g.148564453G>A	(Likely) pathogenic	1 lab	17b19a71be
9:86593366 HNRNPK G>A	9	86593366	86593366	G	A	HNRNPK	c.-106C>T	NM_031263.4	NP_112553.1:p.?	NC_000009.11:g.86593366G>A	(Likely) benign	1 lab	17b1c86ee1
4:186329140 UFSP2 C>A	4	186329140	186329140	C	A	UFSP2	c.1071G>T	NM_018359.5	NP_060829.2:p.(Gln357His)	NC_000004.11:g.186329140C>A	VUS	1 lab	17b2f9ec4b
12:124191316 TCTN2 G>A	12	124191316	124191316	G	A	TCTN2	c.1813G>A	NM_024809.5	NP_079085.2:p.(Glu605Lys)	NC_000012.11:g.124191316G>A	VUS	1 lab	17b5a8a804
17:30293169 SUZ12 G>T	17	30293169	30293169	G	T	SUZ12	c.459G>T	NM_015355.4	NP_056170.2:p.(Leu153Phe)	NC_000017.10:g.30293169G>T	(Likely) benign	1 lab	17b606c895
19:17767204 UNC13A G>C	19	17767204	17767204	G	C	UNC13A	c.771C>G	NM_001080421.3	NP_001073890.2:p.(Pro257=)	NC_000019.9:g.17767204G>C	(Likely) benign	1 lab	17b71335ea
1:38019673 SNIP1 G>C	1	38019673	38019673	G	C	SNIP1	c.158C>G	NM_024700.4	NP_078976.2:p.(Pro53Arg)	NC_000001.10:g.38019673G>C	(Likely) benign	1 lab	17ba18d15e
17:36065074 HNF1B A>G	17	36065074	36065074	A	G	HNF1B	c.1207-18T>C	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36065074A>G	(Likely) benign	1 lab	17ba4645e0
1:200587017 KIF14 T>C	1	200587017	200587017	T	C	KIF14	c.835A>G	NM_014875.3	NP_055690.1:p.(Thr279Ala)	NC_000001.10:g.200587017T>C	(Likely) benign	1 lab	17ba6de835
1:21031012 KIF17 G>A	1	21031012	21031012	G	A	KIF17	c.1051C>T	NM_001122819.3	NP_001116291.1:p.(Arg351Cys)	NC_000001.10:g.21031012G>A	VUS	1 lab	17bb523e74
3:129200437 IFT122 G>A	3	129200437	129200437	G	A	IFT122	c.1553G>A	NM_052989.3	NP_443715.1:p.(Arg518His)	NC_000003.11:g.129200437G>A	VUS	1 lab	17bd455c45
4:5586544 EVC2 G>A	4	5586544	5586544	G	A	EVC2	c.2863C>T	NM_147127.5	NP_667338.3:p.(Arg955Trp)	NC_000004.11:g.5586544G>A	VUS	1 lab	17bd519279
14:76524985 IFT43 G>GTTTT	14	76524985	76524989	G	GTTTT	IFT43	c.219_220insTTTT	NM_001102564.3	NP_001096034.1:p.(Arg74PhefsTer2)	NC_000014.8:g.76524988_76524989insTTTT	(Likely) benign	1 lab	17bf759a15
18:56936594 RAX G>C	18	56936594	56936594	G	C	RAX	c.683C>G	NM_013435.3	NP_038463.2:p.(Pro228Arg)	NC_000018.9:g.56936594G>C	VUS	1 lab	17bfd4601c
9:113530206 MUSK G>T	9	113530206	113530206	G	T	MUSK	c.1027G>T	NM_005592.4	NP_005583.1:p.(Asp343Tyr)	NC_000009.11:g.113530206G>T	VUS	1 lab	17c0fc1f2e
10:76732342 KAT6B C>T	10	76732342	76732342	C	T	KAT6B	c.1006C>T	NM_012330.4	NP_036462.2:p.(Arg336Ter)	NC_000010.10:g.76732342C>T	(Likely) pathogenic	1 lab	1acabf78c1
7:98547209 TRRAP C>T	7	98547209	98547209	C	T	TRRAP	c.4953+5C>T	NM_001375524.1	NP_001362453.1:p.?	NC_000007.13:g.98547209C>T	(Likely) benign	1 lab	17c66468ef
X:115573917 SLC6A14 G>T	X	115573917	115573917	G	T	SLC6A14	c.409G>T	NM_007231.5	NP_009162.1:p.(Ala137Ser)	NC_000023.10:g.115573917G>T	(Likely) benign	1 lab	17c68c30ad
X:134947427 CT45A9 C>T	X	134947427	134947427	C	T	CT45A9	c.512+8G>A	NM_001291540.2	NP_001278469.1:p.?	NC_000023.10:g.134947427C>T	(Likely) benign	1 lab	17c71311da
2:157435634 GPD2 GA>G	2	157435634	157435637	GA	G	GPD2	c.1920del	NM_000408.5	NP_000399.3:p.(Gly641AlafsTer12)	NC_000002.11:g.157435637del	(Likely) benign	1 lab	17c778edf4
6:56485242 DST C>T	6	56485242	56485242	C	T	DST	c.4929+4086G>A	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56485242C>T	(Likely) benign	1 lab	17c89d7819
16:10996666 CIITA C>T	16	10996666	10996666	C	T	CIITA	c.772+8C>T	NM_000246.3	NP_000237.2:p.?	NC_000016.9:g.10996666C>T	(Likely) benign	1 lab	392c2da8b4
19:54780769 LILRB2 G>C	19	54780769	54780769	G	C	LILRB2	c.1372C>G	NM_001080978.4	NP_001074447.2:p.(Leu458Val)	NC_000019.9:g.54780769G>C	(Likely) benign	1 lab	17ca32bd2d
11:17352527 NUCB2 C>A	11	17352527	17352527	C	A	NUCB2	c.1252C>A	NM_005013.4	NP_005004.1:p.(Pro418Thr)	NC_000011.9:g.17352527C>A	VUS	1 lab	17cc4a0537
7:151879468 KMT2C T>C	7	151879468	151879468	T	C	KMT2C	c.5477A>G	NM_170606.3	NP_733751.2:p.(His1826Arg)	NC_000007.13:g.151879468T>C	(Likely) benign	1 lab	17ccd286de
8:101719121 PABPC1 G>A	8	101719121	101719121	G	A	PABPC1	c.1441C>T	NM_002568.4	NP_002559.2:p.(Arg481Cys)	NC_000008.10:g.101719121G>A	VUS	1 lab	17cd329525
21:47552179 COL6A2 A>C	21	47552179	47552179	A	C	COL6A2	c.2773A>C	NM_001849.4	NP_001840.3:p.(Ile925Leu)	NC_000021.8:g.47552179A>C	VUS	1 lab	17cd6d864c
X:149680843 MAMLD1 C>A	X	149680843	149680843	C	A	MAMLD1	c.*614C>A	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149680843C>A	VUS	1 lab	18529a12e6
7:100245135 ACTL6B G>A	7	100245135	100245135	G	A	ACTL6B	c.691C>T	NM_016188.5	NP_057272.1:p.(Pro231Ser)	NC_000007.13:g.100245135G>A	(Likely) benign	1 lab	17cdd23c4a
X:18348739 SCML2 G>A	X	18348739	18348739	G	A	SCML2	c.59C>T	NM_006089.3	NP_006080.1:p.(Thr20Ile)	NC_000023.10:g.18348739G>A	(Likely) benign	1 lab	17d292e724
X:152710867 TREX2 C>T	X	152710867	152710867	C	T	TREX2	c.22G>A	NM_080701.4	NP_542432.2:p.(Glu8Lys)	NC_000023.10:g.152710867C>T	(Likely) benign	1 lab	17d392553a
1:236737999 HEATR1 C>T	1	236737999	236737999	C	T	HEATR1	c.3289G>A	NM_018072.6	NP_060542.4:p.(Ala1097Thr)	NC_000001.10:g.236737999C>T	VUS	1 lab	17d911bc60
16:23652411 PALB2 C>T	16	23652411	23652411	C	T	PALB2	c.48+20G>A	NM_024675.4	NP_078951.2:p.?	NC_000016.9:g.23652411C>T	(Likely) benign	1 lab	17da358a74
8:17793151 PCM1 G>T	8	17793151	17793151	G	T	PCM1	c.32G>T	NM_006197.4	NP_006188.4:p.(Gly11Val)	NC_000008.10:g.17793151G>T	(Likely) benign	1 lab	17da36f552
18:47438509 MYO5B C>A	18	47438509	47438509	C	A	MYO5B	c.2125G>T	NM_001080467.3	NP_001073936.1:p.(Val709Leu)	NC_000018.9:g.47438509C>A	VUS	1 lab	17db4f801e
10:75413367 SYNPO2L A>G	10	75413367	75413367	A	G	SYNPO2L	c.302T>C	NM_001114133.3	NP_001107605.1:p.(Leu101Pro)	NC_000010.10:g.75413367A>G	(Likely) benign	1 lab	17dbdfcc2a
X:53114036 TSPYL2 C>T	X	53114036	53114036	C	T	TSPYL2	c.985C>T	NM_022117.4	NP_071400.1:p.(Arg329Cys)	NC_000023.10:g.53114036C>T	(Likely) benign	1 lab	17dd9ff80a
12:49442423 KMT2D AGGTCTCACT>A	12	49442423	49442433	AGGTCTCACT	A	KMT2D	c.4131+10_4131+18del	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49442425_49442433del	(Likely) benign	1 lab	17ddf803d7
3:135870731 MSL2 G>C	3	135870731	135870731	G	C	MSL2	c.992C>G	NM_018133.4	NP_060603.2:p.(Ala331Gly)	NC_000003.11:g.135870731G>C	VUS	1 lab	17de62b65f
17:73487172 TMEM94 G>A	17	73487172	73487172	G	A	TMEM94	c.1171G>A	NM_014738.6	NP_055553.3:p.(Gly391Arg)	NC_000017.10:g.73487172G>A	VUS	1 lab	17e0b8f9ab
7:69206607 AUTS2 A>T	7	69206607	69206607	A	T	AUTS2	c.309+141659A>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69206607A>T	(Likely) benign	1 lab	17e1ed7b86
11:61093166 DDB1 C>T	11	61093166	61093166	C	T	DDB1	c.679G>A	NM_001923.5	NP_001914.3:p.(Gly227Arg)	NC_000011.9:g.61093166C>T	VUS	1 lab	17e25dd7de
X:7267959 STS C>T	X	7267959	7267959	C	T	STS	c.1394C>T	NM_001320752.2	NP_001307681.2:p.(Thr465Ile)	NC_000023.10:g.7267959C>T	VUS	1 lab	17e53740e1
16:223693 HBA2 A>G	16	223693	223693	A	G	HBA2	c.*94A>G	NM_000517.6	NP_000508.1:p.?	NC_000016.9:g.223693A>G	(Likely) pathogenic	1 lab	17e5b1a8de
10:72195652 NODAL C>T	10	72195652	72195652	C	T	NODAL	c.281G>A	NM_018055.5	NP_060525.3:p.(Arg94Gln)	NC_000010.10:g.72195652C>T	(Likely) benign	1 lab	17e63b66b1
X:48839741 GRIPAP1 C>A	X	48839741	48839741	C	A	GRIPAP1	c.1384G>T	NM_020137.5	NP_064522.4:p.(Val462Leu)	NC_000023.10:g.48839741C>A	(Likely) benign	1 lab	17e6531dea
X:69460051 AWAT1 G>A	X	69460051	69460051	G	A	AWAT1	c.898G>A	NM_001013579.3	NP_001013597.1:p.(Ala300Thr)	NC_000023.10:g.69460051G>A	(Likely) benign	1 lab	17e727d61b
9:35107888 ATOSB C>G	9	35107888	35107888	C	G	ATOSB	c.384G>C	NM_025182.4	NP_079458.2:p.(Gln128His)	NC_000009.11:g.35107888C>G	VUS	1 lab	17e77de153
4:122760932 BBS7 T>TA	4	122760932	122760933	T	TA	BBS7	c.1306-82dup	NM_176824.3	NP_789794.1:p.?	NC_000004.11:g.122760933dup	VUS	1 lab	17e840a896
9:139903440 ABCA2 C>G	9	139903440	139903440	C	G	ABCA2	c.6893G>C	NM_001606.5	NP_001597.2:p.(Arg2298Pro)	NC_000009.11:g.139903440C>G	VUS	1 lab	17e84c472b
17:78261707 RNF213 C>T	17	78261707	78261707	C	T	RNF213	c.355C>T	NM_001256071.3	NP_001243000.2:p.(His119Tyr)	NC_000017.10:g.78261707C>T	(Likely) benign	1 lab	17ea2bb1cf
8:21978667 HR C>T	8	21978667	21978667	C	T	HR	c.2278G>A	NM_005144.5	NP_005135.2:p.(Glu760Lys)	NC_000008.10:g.21978667C>T	VUS	1 lab	17ea41415f
3:8787496 CAV3 C>T	3	8787496	8787496	C	T	CAV3	c.399C>T	NM_033337.3	NP_203123.1:p.(Phe133=)	NC_000003.11:g.8787496C>T	(Likely) benign	1 lab	17ea9701ed
3:65387125 MAGI1 T>C	3	65387125	65387125	T	C	MAGI1	c.2188A>G	NM_001033057.2	NP_001028229.1:p.(Ser730Gly)	NC_000003.11:g.65387125T>C	VUS	1 lab	17ebb553ce
8:145741896 RECQL4 C>T	8	145741896	145741896	C	T	RECQL4	c.607G>A	NM_004260.4	NP_004251.4:p.(Gly203Arg)	NC_000008.10:g.145741896C>T	(Likely) benign	1 lab	17ec2284a3
15:89385048 ACAN G>A	15	89385048	89385048	G	A	ACAN	c.707G>A	NM_001369268.1	NP_001356197.1:p.(Arg236Gln)	NC_000015.9:g.89385048G>A	VUS	1 lab	17ed1f35ec
6:56510720 DST C>T	6	56510720	56510720	C	T	DST	c.1722G>A	NM_001374736.1	NP_001361665.1:p.(Gly574=)	NC_000006.11:g.56510720C>T	(Likely) benign	1 lab	1b0161ea9c
11:118971335 DPAGT1 C>T	11	118971335	118971335	C	T	DPAGT1	c.496+5G>A	NM_001382.4	NP_001373.2:p.?	NC_000011.9:g.118971335C>T	VUS	1 lab	17ee8ab9fc
6:43014321 CUL7 C>T	6	43014321	43014321	C	T	CUL7	c.2416G>A	NM_014780.5	NP_055595.2:p.(Glu806Lys)	NC_000006.11:g.43014321C>T	(Likely) benign	1 lab	17eeb41c45
3:12942684 IQSEC1 GGGTGGTGGT>G	3	12942684	12942700	GGGTGGTGGT	G	IQSEC1	c.3134_3142del	NM_001134382.3	NP_001127854.1:p.(His1045_His1047del)	NC_000003.11:g.12942692_12942700del	VUS	1 lab	17f0f8a48f
15:89388930 ACAN G>A	15	89388930	89388930	G	A	ACAN	c.1246G>A	NM_001369268.1	NP_001356197.1:p.(Glu416Lys)	NC_000015.9:g.89388930G>A	VUS	1 lab	17f1493fdc
19:38954509 RYR1 C>G	19	38954509	38954509	C	G	RYR1	c.2786+19C>G	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38954509C>G	(Likely) benign	1 lab	17f682e38e
X:114141751 HTR2C C>T	X	114141751	114141751	C	T	HTR2C	c.1150C>T	NM_000868.4	NP_000859.2:p.(Arg384Cys)	NC_000023.10:g.114141751C>T	VUS	1 lab	17f80cb9fb
1:57209938 FYB2 A>C	1	57209938	57209938	A	C	FYB2	c.1389T>G	NM_001004303.5	NP_001004303.3:p.(Cys463Trp)	NC_000001.10:g.57209938A>C	VUS	1 lab	17f834fccc
19:4557195 SEMA6B T>C	19	4557195	4557195	T	C	SEMA6B	c.286A>G	NM_032108.4	NP_115484.2:p.(Thr96Ala)	NC_000019.9:g.4557195T>C	VUS	1 lab	17f99064b1
1:201035035 CACNA1S G>A	1	201035035	201035035	G	A	CACNA1S	c.2784C>T	NM_000069.3	NP_000060.2:p.(Ile928=)	NC_000001.10:g.201035035G>A	(Likely) benign	1 lab	17fb15c998
3:184039075 EIF4G1 C>T	3	184039075	184039075	C	T	EIF4G1	c.703C>T	NM_198241.3	NP_937884.2:p.(Arg235Trp)	NC_000003.11:g.184039075C>T	(Likely) benign	1 lab	17fbd5836d
15:55789984 DNAAF4 A>G	15	55789984	55789984	A	G	DNAAF4	c.197T>C	NM_130810.4	NP_570722.2:p.(Ile66Thr)	NC_000015.9:g.55789984A>G	VUS	1 lab	17fc5860d0
6:39880632 MOCS1 T>C	6	39880632	39880632	T	C	MOCS1	c.870+4A>G	NM_001358530.2	NP_001345459.1:p.?	NC_000006.11:g.39880632T>C	VUS	1 lab	17fcf9b5e0
15:90210895 PLIN1 T>C	15	90210895	90210895	T	C	PLIN1	c.901A>G	NM_002666.5	NP_002657.3:p.(Thr301Ala)	NC_000015.9:g.90210895T>C	VUS	1 lab	17fe16e240
17:73520447 TSEN54 T>C	17	73520447	73520447	T	C	TSEN54	c.1535T>C	NM_207346.3	NP_997229.2:p.(Phe512Ser)	NC_000017.10:g.73520447T>C	VUS	1 lab	17ff0c35dc
12:89984987 ATP2B1 G>T	12	89984987	89984987	G	T	ATP2B1	c.3437C>A	NM_001366521.1	NP_001353450.1:p.(Thr1146Lys)	NC_000012.11:g.89984987G>T	VUS	1 lab	17ff15aded
20:43058189 HNF4A C>T	20	43058189	43058189	C	T	HNF4A	c.1309C>T	NM_000457.5	NP_000448.3:p.(Pro437Ser)	NC_000020.10:g.43058189C>T	(Likely) benign	1 lab	17ff619035
X:107858209 COL4A5 G>A	X	107858209	107858209	G	A	COL4A5	c.2464G>A	NM_000495.5	NP_000486.1:p.(Gly822Arg)	NC_000023.10:g.107858209G>A	(Likely) pathogenic	1 lab	1b01859866
15:75687028 SIN3A T>A	15	75687028	75687028	T	A	SIN3A	c.2270A>T	NM_001145358.2	NP_001138830.1:p.(Tyr757Phe)	NC_000015.9:g.75687028T>A	VUS	1 lab	1800474b1b
13:32823795 FRY G>A	13	32823795	32823795	G	A	FRY	c.7141G>A	NM_023037.3	NP_075463.2:p.(Val2381Met)	NC_000013.10:g.32823795G>A	VUS	1 lab	18020b3194
8:133192493 KCNQ3 G>T	8	133192493	133192493	G	T	KCNQ3	c.688C>A	NM_004519.4	NP_004510.1:p.(Arg230Ser)	NC_000008.10:g.133192493G>T	(Likely) pathogenic	1 lab	18031b72cb
1:154544539 CHRNB2 G>T	1	154544539	154544539	G	T	CHRNB2	c.1240G>T	NM_000748.3	NP_000739.1:p.(Gly414Trp)	NC_000001.10:g.154544539G>T	VUS	1 lab	18047ccbf4
2:176805812 LNPK CA>C	2	176805812	176805821	CA	C	LNPK	c.707-1428del	NM_030650.3	NP_085153.1:p.?	NC_000002.11:g.176805821del	(Likely) benign	1 lab	1808c24f66
2:189856938 COL3A1 G>A	2	189856938	189856938	G	A	COL3A1	c.980G>A	NM_000090.3	NP_000081.1:p.(Gly327Asp)	NC_000002.11:g.189856938G>A	(Likely) pathogenic	1 lab	1b0442f01a
3:9982714 CRELD1 G>T	3	9982714	9982714	G	T	CRELD1	c.637+4G>T	NM_001077415.3	NP_001070883.2:p.?	NC_000003.11:g.9982714G>T	(Likely) benign	1 lab	180b1e22f4
17:59482799 TBX2 C>T	17	59482799	59482799	C	T	TBX2	c.1288C>T	NM_005994.4	NP_005985.3:p.(Arg430Trp)	NC_000017.10:g.59482799C>T	VUS	1 lab	180bed72c8
19:14034383 CC2D1A A>C	19	14034383	14034383	A	C	CC2D1A	c.1787A>C	NM_017721.5	NP_060191.3:p.(Gln596Pro)	NC_000019.9:g.14034383A>C	VUS	1 lab	180e05708c
19:1051242 ABCA7 C>T	19	1051242	1051242	C	T	ABCA7	c.2773C>T	NM_019112.4	NP_061985.2:p.(Gln925Ter)	NC_000019.9:g.1051242C>T	VUS	1 lab	181330091b
6:51640666 PKHD1 C>A	6	51640666	51640666	C	A	PKHD1	c.8494G>T	NM_138694.4	NP_619639.3:p.(Ala2832Ser)	NC_000006.11:g.51640666C>A	(Likely) benign	1 lab	1813a76598
19:38987541 RYR1 G>A	19	38987541	38987541	G	A	RYR1	c.6838G>A	NM_000540.3	NP_000531.2:p.(Val2280Ile)	NC_000019.9:g.38987541G>A	(Likely) pathogenic	1 lab	18149e4ec5
X:13058943 FAM9C A>G	X	13058943	13058943	A	G	FAM9C	c.263T>C	NM_174901.6	NP_777561.1:p.(Ile88Thr)	NC_000023.10:g.13058943A>G	(Likely) benign	1 lab	1814eb8cd5
14:64066402 WDR89 A>G	14	64066402	64066402	A	G	WDR89	c.259T>C	NM_080666.4	NP_542397.1:p.(Ser87Pro)	NC_000014.8:g.64066402A>G	(Likely) benign	1 lab	181553f025
19:13396010 CACNA1A GT>G	19	13396010	13396015	GT	G	CACNA1A	c.3563del	NM_001127222.2	NP_001120694.1:p.(Asn1188ThrfsTer53)	NC_000019.9:g.13396015del	(Likely) pathogenic	1 lab	181660b359
3:47163313 SETD2 T>C	3	47163313	47163313	T	C	SETD2	c.2813A>G	NM_014159.7	NP_054878.5:p.(Asp938Gly)	NC_000003.11:g.47163313T>C	(Likely) benign	1 lab	1817f212e0
11:6646055 DCHS1 G>A	11	6646055	6646055	G	A	DCHS1	c.7191C>T	NM_003737.4	NP_003728.1:p.(Ser2397=)	NC_000011.9:g.6646055G>A	(Likely) benign	1 lab	1b050e08a8
16:2156220 PKD1 G>A	16	2156220	2156220	G	A	PKD1	c.7575C>T	NM_001009944.3	NP_001009944.3:p.(Phe2525=)	NC_000016.9:g.2156220G>A	(Likely) benign	1 lab	1818bb2125
19:52034437 SIGLEC6 G>A	19	52034437	52034437	G	A	SIGLEC6	c.404C>T	NM_001245.7	NP_001236.4:p.(Ser135Phe)	NC_000019.9:g.52034437G>A	VUS	1 lab	1819595531
5:80628408 ACOT12 CTA>C	5	80628408	80628411	CTA	C	ACOT12	c.1277_1278del	NM_130767.3	NP_570123.1:p.(Ile426ArgfsTer5)	NC_000005.9:g.80628410_80628411del	VUS	1 lab	181af3d15e
1:3599649 TP73 C>T	1	3599649	3599649	C	T	TP73	c.91C>T	NM_005427.4	NP_005418.1:p.(Leu31Phe)	NC_000001.10:g.3599649C>T	VUS	1 lab	181b60b0fe
1:6214924 CHD5 T>C	1	6214924	6214924	T	C	CHD5	c.541A>G	NM_015557.3	NP_056372.1:p.(Met181Val)	NC_000001.10:g.6214924T>C	VUS	1 lab	181b97883e
2:25384472 POMC G>A	2	25384472	25384472	G	A	POMC	c.282C>T	NM_001035256.2	NP_001030333.1:p.(Ser94=)	NC_000002.11:g.25384472G>A	(Likely) benign	1 lab	3933432227
13:110830260 COL4A1 C>G	13	110830260	110830260	C	G	COL4A1	c.2645G>C	NM_001845.6	NP_001836.3:p.(Gly882Ala)	NC_000013.10:g.110830260C>G	VUS	1 lab	181d2a910d
9:2029119 SMARCA2 C>G	9	2029119	2029119	C	G	SMARCA2	c.97C>G	NM_003070.5	NP_003061.3:p.(Pro33Ala)	NC_000009.11:g.2029119C>G	(Likely) benign	1 lab	181f4a6c0a
14:68234533 ZFYVE26 C>A	14	68234533	68234533	C	A	ZFYVE26	c.5678G>T	NM_015346.4	NP_056161.2:p.(Ser1893Ile)	NC_000014.8:g.68234533C>A	(Likely) benign	1 lab	18213dcd25
11:13732343 FAR1 C>G	11	13732343	13732343	C	G	FAR1	c.649C>G	NM_032228.6	NP_115604.1:p.(Gln217Glu)	NC_000011.9:g.13732343C>G	VUS	1 lab	182267bbd1
2:241810839 AGXT T>C	2	241810839	241810839	T	C	AGXT	c.497T>C	NM_000030.3	NP_000021.1:p.(Leu166Pro)	NC_000002.11:g.241810839T>C	(Likely) pathogenic	1 lab	182339154f
18:10787148 PIEZO2 T>C	18	10787148	10787148	T	C	PIEZO2	c.2204A>G	NM_001378183.1	NP_001365112.1:p.(Tyr735Cys)	NC_000018.9:g.10787148T>C	(Likely) benign	1 lab	182468a289
12:56088603 ITGA7 C>T	12	56088603	56088603	C	T	ITGA7	c.2155G>A	NM_002206.3	NP_002197.2:p.(Asp719Asn)	NC_000012.11:g.56088603C>T	VUS	1 lab	18257c822c
17:65714095 NOL11 C>T	17	65714095	65714095	C	T	NOL11	c.32C>T	NM_015462.5	NP_056277.2:p.(Ser11Phe)	NC_000017.10:g.65714095C>T	(Likely) benign	1 lab	1825eede90
15:48791173 FBN1 A>T	15	48791173	48791173	A	T	FBN1	c.2167+9T>A	NM_000138.5	NP_000129.3:p.?	NC_000015.9:g.48791173A>T	(Likely) benign	1 lab	18275fe8de
15:89383287 ACAN G>A	15	89383287	89383287	G	A	ACAN	c.499G>A	NM_001369268.1	NP_001356197.1:p.(Asp167Asn)	NC_000015.9:g.89383287G>A	VUS	1 lab	182876e6dd
3:71247061 FOXP1 TG>T	3	71247061	71247065	TG	T	FOXP1	c.180+291del	NM_001349338.3	NP_001336267.1:p.?	NC_000003.11:g.71247065del	VUS	1 lab	182a429cde
2:179650417 TTN C>T	2	179650417	179650417	C	T	TTN	c.2423G>A	NM_001267550.2	NP_001254479.2:p.(Arg808His)	NC_000002.11:g.179650417C>T	VUS	1 lab	182a7e9214
11:17496467 ABCC8 C>T	11	17496467	17496467	C	T	ABCC8	c.256G>A	NM_000352.6	NP_000343.2:p.(Val86Met)	NC_000011.9:g.17496467C>T	VUS	1 lab	182aca67e7
16:30974857 SETD1A G>A	16	30974857	30974857	G	A	SETD1A	c.621G>A	NM_014712.3	NP_055527.1:p.(Ser207=)	NC_000016.9:g.30974857G>A	(Likely) benign	1 lab	182aceade3
6:55935568 COL21A1 C>A	6	55935568	55935568	C	A	COL21A1	c.1994G>T	NM_030820.4	NP_110447.2:p.(Gly665Val)	NC_000006.11:g.55935568C>A	VUS	1 lab	182b081149
13:111164321 COL4A2 T>C	13	111164321	111164321	T	C	COL4A2	c.4922T>C	NM_001846.4	NP_001837.2:p.(Val1641Ala)	NC_000013.10:g.111164321T>C	(Likely) benign	1 lab	182b47ff4f
17:38345570 RAPGEFL1 G>A	17	38345570	38345570	G	A	RAPGEFL1	c.1057G>A	NM_016339.6	NP_057423.2:p.(Glu353Lys)	NC_000017.10:g.38345570G>A	VUS	1 lab	182bb36414
19:38987101 RYR1 T>C	19	38987101	38987101	T	C	RYR1	c.6716T>C	NM_000540.3	NP_000531.2:p.(Phe2239Ser)	NC_000019.9:g.38987101T>C	VUS	1 lab	182c989fab
11:16812584 PLEKHA7 C>G	11	16812584	16812584	C	G	PLEKHA7	c.2908G>C	NM_001329630.2	NP_001316559.1:p.(Gly970Arg)	NC_000011.9:g.16812584C>G	VUS	1 lab	182db7860d
18:61305209 SERPINB4 T>C	18	61305209	61305209	T	C	SERPINB4	c.917A>G	NM_002974.4	NP_002965.1:p.(Asn306Ser)	NC_000018.9:g.61305209T>C	VUS	1 lab	1831d4d283
5:42713560 GHR A>G	5	42713560	42713560	A	G	GHR	c.814A>G	NM_000163.5	NP_000154.1:p.(Ile272Val)	NC_000005.9:g.42713560A>G	VUS	1 lab	1831e521b4
19:50910356 POLD1 G>A	19	50910356	50910356	G	A	POLD1	c.1611G>A	NM_002691.4	NP_002682.2:p.(Arg537=)	NC_000019.9:g.50910356G>A	VUS	1 lab	1835329ebb
5:149631347 CAMK2A C>T	5	149631347	149631347	C	T	CAMK2A	c.659G>A	NM_015981.4	NP_057065.2:p.(Arg220His)	NC_000005.9:g.149631347C>T	VUS	1 lab	1836fd428f
8:145739631 RECQL4 G>A	8	145739631	145739631	G	A	RECQL4	c.1820C>T	NM_004260.4	NP_004251.4:p.(Ala607Val)	NC_000008.10:g.145739631G>A	(Likely) benign	1 lab	183755f8dc
14:20854290 TEP1 G>A	14	20854290	20854290	G	A	TEP1	c.2926C>T	NM_007110.5	NP_009041.2:p.(Arg976Cys)	NC_000014.8:g.20854290G>A	VUS	1 lab	1837d1c93b
14:92909781 SLC24A4 C>G	14	92909781	92909781	C	G	SLC24A4	c.620C>G	NM_153646.4	NP_705932.2:p.(Ser207Cys)	NC_000014.8:g.92909781C>G	VUS	1 lab	18395f3f40
2:179631110 TTN T>C	2	179631110	179631110	T	C	TTN	c.9701A>G	NM_001267550.2	NP_001254479.2:p.(Asn3234Ser)	NC_000002.11:g.179631110T>C	VUS	1 lab	1839b49115
18:42618612 SETBP1 C>T	18	42618612	42618612	C	T	SETBP1	c.4163C>T	NM_015559.3	NP_056374.2:p.(Ser1388Leu)	NC_000018.9:g.42618612C>T	VUS	1 lab	1839cc1091
14:68220897 ZFYVE26 A>G	14	68220897	68220897	A	G	ZFYVE26	c.7019T>C	NM_015346.4	NP_056161.2:p.(Val2340Ala)	NC_000014.8:g.68220897A>G	VUS	1 lab	183abdaac6
2:227875161 COL4A4 C>T	2	227875161	227875161	C	T	COL4A4	c.4390G>A	NM_000092.5	NP_000083.3:p.(Gly1464Ser)	NC_000002.11:g.227875161C>T	(Likely) benign	1 lab	183c743200
1:9780703 PIK3CD A>G	1	9780703	9780703	A	G	PIK3CD	c.1505A>G	NM_005026.5	NP_005017.3:p.(His502Arg)	NC_000001.10:g.9780703A>G	(Likely) benign	1 lab	183ec03225
10:96740942 CYP2C9 A>G	10	96740942	96740942	A	G	CYP2C9	c.964A>G	NM_000771.4	NP_000762.2:p.(Lys322Glu)	NC_000010.10:g.96740942A>G	VUS	1 lab	183ed298a5
11:125488260 STT3A TCTCCTAGATATCAACAAG>T	11	125488260	125488278	TCTCCTAGATATCAACAAG	T	STT3A	c.1775-7_1785del	NM_152713.5	NP_689926.1:p.?	NC_000011.9:g.125488261_125488278del	(Likely) benign	1 lab	183facc264
20:17923788 SNX5 A>G	20	17923788	17923788	A	G	SNX5	c.1130T>C	NM_014426.4	NP_055241.1:p.(Ile377Thr)	NC_000020.10:g.17923788A>G	VUS	1 lab	1840d1f4ea
14:99924868 SETD3 G>A	14	99924868	99924868	G	A	SETD3	c.423C>T	NM_032233.3	NP_115609.2:p.(Pro141=)	NC_000014.8:g.99924868G>A	(Likely) benign	1 lab	184140b480
2:131220661 POTEI CA>C	2	131220661	131220662	CA	C	POTEI	c.2955del	NM_001277406.2	NP_001264335.1:p.(Asp986MetfsTer40)	NC_000002.11:g.131220662del	VUS	1 lab	18418a5b68
16:84227823 ADAD2 G>T	16	84227823	84227823	G	T	ADAD2	c.419-225G>T	NM_001145400.2	NP_001138872.1:p.?	NC_000016.9:g.84227823G>T	(Likely) benign	1 lab	184242dddc
6:152631888 SYNE1 G>A	6	152631888	152631888	G	A	SYNE1	c.16831C>T	NM_182961.4	NP_892006.3:p.(Arg5611Trp)	NC_000006.11:g.152631888G>A	VUS	1 lab	18428b95b7
10:135093381 TUBGCP2 C>T	10	135093381	135093381	C	T	TUBGCP2	c.2598G>A	NM_006659.4	NP_006650.1:p.(Thr866=)	NC_000010.10:g.135093381C>T	VUS	1 lab	18455e0347
X:79281097 TBX22 T>A	X	79281097	79281097	T	A	TBX22	c.459-5T>A	NM_001109878.2	NP_001103348.1:p.?	NC_000023.10:g.79281097T>A	(Likely) benign	1 lab	1845ac9187
11:112099315 PTS A>T	11	112099315	112099315	A	T	PTS	c.84-2A>T	NM_000317.3	NP_000308.1:p.?	NC_000011.9:g.112099315A>T	(Likely) benign	1 lab	184753f103
2:20202976 MATN3 G>A	2	20202976	20202976	G	A	MATN3	c.862C>T	NM_002381.5	NP_002372.1:p.(His288Tyr)	NC_000002.11:g.20202976G>A	VUS	1 lab	1849852b31
16:1270330 CACNA1H G>T	16	1270330	1270330	G	T	CACNA1H	c.6398G>T	NM_021098.3	NP_066921.2:p.(Arg2133Leu)	NC_000016.9:g.1270330G>T	(Likely) benign	1 lab	184adbee2e
5:60448761 NDUFAF2 TG>T	5	60448761	60448763	TG	T	NDUFAF2	c.491del	NM_174889.5	NP_777549.1:p.(Gly164AlafsTer25)	NC_000005.9:g.60448763del	VUS	1 lab	184b04fd4d
9:140637831 EHMT1 C>T	9	140637831	140637831	C	T	EHMT1	c.832C>T	NM_024757.5	NP_079033.4:p.(Pro278Ser)	NC_000009.11:g.140637831C>T	(Likely) benign	1 lab	184b0bb678
19:50098103 PRR12 C>T	19	50098103	50098103	C	T	PRR12	c.511C>T	NM_020719.3	NP_065770.1:p.(Gln171Ter)	NC_000019.9:g.50098103C>T	VUS	1 lab	184bf92cc3
2:238275771 COL6A3 G>A	2	238275771	238275771	G	A	COL6A3	c.5059C>T	NM_004369.4	NP_004360.2:p.(Pro1687Ser)	NC_000002.11:g.238275771G>A	(Likely) benign	1 lab	184c06122a
16:2819142 SRRM2 T>C	16	2819142	2819142	T	C	SRRM2	c.7878T>C	NM_016333.4	NP_057417.3:p.(Ser2626=)	NC_000016.9:g.2819142T>C	VUS	1 lab	184c783cb7
X:48921952 CCDC120 G>A	X	48921952	48921952	G	A	CCDC120	c.481G>A	NM_001163321.4	NP_001156793.2:p.(Ala161Thr)	NC_000023.10:g.48921952G>A	VUS	1 lab	184fb05a3d
1:161275704 MPZ CCTT>C	1	161275704	161275712	CCTT	C	MPZ	c.706_708del	NM_000530.8	NP_000521.2:p.(Lys236del)	NC_000001.10:g.161275710_161275712del	VUS	1 lab	1850450111
3:129179768 IFT122 C>T	3	129179768	129179768	C	T	IFT122	c.273-303C>T	NM_052989.3	NP_443715.1:p.?	NC_000003.11:g.129179768C>T	(Likely) benign	1 lab	18516affd2
1:152285290 FLG C>T	1	152285290	152285290	C	T	FLG	c.2072G>A	NM_002016.2	NP_002007.1:p.(Gly691Glu)	NC_000001.10:g.152285290C>T	(Likely) benign	1 lab	1852552f83
2:179399020 TTN C>G	2	179399020	179399020	C	G	TTN	c.102322G>C	NM_001267550.2	NP_001254479.2:p.(Ala34108Pro)	NC_000002.11:g.179399020C>G	VUS	1 lab	1852c660c4
20:468066 CSNK2A1 C>T	20	468066	468066	C	T	CSNK2A1	c.973+5G>A	NM_177559.3	NP_808227.1:p.?	NC_000020.10:g.468066C>T	(Likely) pathogenic	1 lab	3004247e05
8:1497659 DLGAP2 A>G	8	1497659	1497659	A	G	DLGAP2	c.1040A>G	NM_001346810.2	NP_001333739.1:p.(Asn347Ser)	NC_000008.10:g.1497659A>G	VUS	1 lab	1853b4fba1
6:121602707 TBC1D32 A>C	6	121602707	121602707	A	C	TBC1D32	c.1591T>G	NM_152730.6	NP_689943.4:p.(Leu531Val)	NC_000006.11:g.121602707A>C	(Likely) benign	1 lab	1854e8a917
17:48433625 XYLT2 G>A	17	48433625	48433625	G	A	XYLT2	c.1482+3G>A	NM_022167.4	NP_071450.2:p.?	NC_000017.10:g.48433625G>A	VUS	1 lab	1858e99771
14:68236422 ZFYVE26 C>T	14	68236422	68236422	C	T	ZFYVE26	c.5510G>A	NM_015346.4	NP_056161.2:p.(Arg1837His)	NC_000014.8:g.68236422C>T	VUS	1 lab	1859663331
6:110550180 CDC40 G>C	6	110550180	110550180	G	C	CDC40	c.1562+1G>C	NM_015891.3	NP_056975.1:p.?	NC_000006.11:g.110550180G>C	(Likely) pathogenic	1 lab	185b0d476c
20:47975664 MISSING T>TGTA	20	47975664	47975665	T	TGTA	MISSING				NC_000020.10:g.47975664_47975665insGTA	(Likely) benign	1 lab	185cb65674
X:19028721 ADGRG2 G>A	X	19028721	19028721	G	A	ADGRG2	c.1265+10C>T	NM_001079858.3	NP_001073327.1:p.?	NC_000023.10:g.19028721G>A	(Likely) benign	1 lab	185eb2f8d8
11:45931735 PEX16 G>C	11	45931735	45931735	G	C	PEX16	c.*70C>G	NM_004813.4	NP_004804.2:p.?	NC_000011.9:g.45931735G>C	VUS	1 lab	1860be3439
17:48273535 COL1A1 G>A	17	48273535	48273535	G	A	COL1A1	c.983C>T	NM_000088.4	NP_000079.2:p.(Thr328Ile)	NC_000017.10:g.48273535G>A	(Likely) benign	1 lab	186213a5ac
6:41037832 OARD1 G>A	6	41037832	41037832	G	A	OARD1	c.226C>T	NM_001329686.2	NP_001316615.1:p.(Arg76Ter)	NC_000006.11:g.41037832G>A	VUS	1 lab	1862a7ee43
X:99849323 TNMD T>G	X	99849323	99849323	T	G	TNMD	c.387T>G	NM_022144.3	NP_071427.2:p.(Ile129Met)	NC_000023.10:g.99849323T>G	(Likely) benign	1 lab	18633cef16
16:88798759 PIEZO1 TAGA>T	16	88798759	88798770	TAGA	T	PIEZO1	c.2972_2974del	NM_001142864.4	NP_001136336.2:p.(Phe991del)	NC_000016.9:g.88798768_88798770del	(Likely) pathogenic	1 lab	1864f34f76
2:216211571 ATIC T>A	2	216211571	216211571	T	A	ATIC	c.1410T>A	NM_004044.7	NP_004035.2:p.(His470Gln)	NC_000002.11:g.216211571T>A	VUS	1 lab	186603d811
17:62050110 SCN4A C>A	17	62050110	62050110	C	A	SCN4A	c.92G>T	NM_000334.4	NP_000325.4:p.(Arg31Leu)	NC_000017.10:g.62050110C>A	(Likely) benign	1 lab	18664740a7
18:58038799 MC4R A>G	18	58038799	58038799	A	G	MC4R	c.784T>C	NM_005912.3	NP_005903.2:p.(Phe262Leu)	NC_000018.9:g.58038799A>G	(Likely) pathogenic	1 lab	186853d3f2
12:121432014 HNF1A TG>T	12	121432014	121432017	TG	T	HNF1A	c.764del	NM_000545.8	NP_000536.6:p.(Gly255AlafsTer87)	NC_000012.11:g.121432017del	(Likely) pathogenic	1 lab	186a2c29e9
16:28617494 SULT1A1 C>T	16	28617494	28617494	C	T	SULT1A1	c.658G>A	NM_001055.4	NP_001046.2:p.(Val220Met)	NC_000016.9:g.28617494C>T	(Likely) benign	1 lab	186a4d4f6a
11:115088681 CADM1 T>G	11	115088681	115088681	T	G	CADM1	c.752A>C	NM_001301043.2	NP_001287972.1:p.(Tyr251Ser)	NC_000011.9:g.115088681T>G	(Likely) benign	1 lab	186a83a69d
17:38926515 KRT26 C>CT	17	38926515	38926522	C	CT	KRT26	c.670dup	NM_181539.5	NP_853517.2:p.(Ser224LysfsTer3)	NC_000017.10:g.38926522dup	VUS	1 lab	186b3295e6
19:39009869 RYR1 T>C	19	39009869	39009869	T	C	RYR1	c.10034T>C	NM_000540.3	NP_000531.2:p.(Ile3345Thr)	NC_000019.9:g.39009869T>C	VUS	1 lab	186bef98d4
13:39263158 FREM2 G>C	13	39263158	39263158	G	C	FREM2	c.1677G>C	NM_207361.6	NP_997244.4:p.(Gln559His)	NC_000013.10:g.39263158G>C	VUS	1 lab	186e018029
9:135946930 CEL G>A	9	135946930	135946930	G	A	CEL	c.2041G>A	NM_001807.6	NP_001798.3:p.(Val681Met)	NC_000009.11:g.135946930G>A	(Likely) benign	1 lab	186f124890
16:31336273 ITGAM T>A	16	31336273	31336273	T	A	ITGAM	c.2290-6T>A	NM_000632.4	NP_000623.2:p.?	NC_000016.9:g.31336273T>A	VUS	1 lab	186f527d0b
2:86310298 POLR1A C>G	2	86310298	86310298	C	G	POLR1A	c.731-7G>C	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86310298C>G	(Likely) benign	1 lab	186f8cd794
8:22005810 LGI3 G>A	8	22005810	22005810	G	A	LGI3	c.1510C>T	NM_139278.4	NP_644807.1:p.(Arg504Trp)	NC_000008.10:g.22005810G>A	VUS	1 lab	18716f4a81
16:839702 CHTF18 C>T	16	839702	839702	C	T	CHTF18	c.593C>T	NM_022092.3	NP_071375.1:p.(Ala198Val)	NC_000016.9:g.839702C>T	(Likely) benign	1 lab	18719ff675
17:62021137 SCN4A T>C	17	62021137	62021137	T	C	SCN4A	c.3986A>G	NM_000334.4	NP_000325.4:p.(Lys1329Arg)	NC_000017.10:g.62021137T>C	VUS	1 lab	1873bd1890
14:92343898 FBLN5 C>T	14	92343898	92343898	C	T	FBLN5	c.1118G>A	NM_006329.4	NP_006320.2:p.(Arg373His)	NC_000014.8:g.92343898C>T	VUS	1 lab	187524f04f
3:192125882 FGF12 T>A	3	192125882	192125882	T	A	FGF12	c.14-47555A>T	NM_004113.6	NP_004104.3:p.?	NC_000003.11:g.192125882T>A	(Likely) benign	1 lab	187565f833
X:3242339 MXRA5 T>C	X	3242339	3242339	T	C	MXRA5	c.1387A>G	NM_015419.4	NP_056234.2:p.(Ile463Val)	NC_000023.10:g.3242339T>C	(Likely) benign	1 lab	1875b881d4
20:61449904 COL9A3 C>T	20	61449904	61449904	C	T	COL9A3	c.182C>T	NM_001853.4	NP_001844.3:p.(Pro61Leu)	NC_000020.10:g.61449904C>T	(Likely) benign	1 lab	187835d6cc
6:7583962 DSP G>A	6	7583962	7583962	G	A	DSP	c.6467G>A	NM_004415.4	NP_004406.2:p.(Arg2156Lys)	NC_000006.11:g.7583962G>A	(Likely) benign	1 lab	187aa12c48
3:184093761 THPO G>A	3	184093761	184093761	G	A	THPO	c.56C>T	NM_000460.4	NP_000451.1:p.(Thr19Met)	NC_000003.11:g.184093761G>A	VUS	1 lab	187ad67392
11:76867929 MYO7A T>C	11	76867929	76867929	T	C	MYO7A	c.614T>C	NM_000260.4	NP_000251.3:p.(Ile205Thr)	NC_000011.9:g.76867929T>C	VUS	1 lab	187bf3fca2
12:115112565 TBX3 G>A	12	115112565	115112565	G	A	TBX3	c.1115C>T	NM_005996.4	NP_005987.3:p.(Ala372Val)	NC_000012.11:g.115112565G>A	VUS	1 lab	187c22cab9
3:12458618 PPARG T>G	3	12458618	12458618	T	G	PPARG	c.1145T>G	NM_138711.6	NP_619725.3:p.(Leu382Trp)	NC_000003.11:g.12458618T>G	VUS	1 lab	187ed0a2a4
2:8890460 KIDINS220 G>A	2	8890460	8890460	G	A	KIDINS220	c.3196C>T	NM_020738.4	NP_065789.1:p.(Arg1066Cys)	NC_000002.11:g.8890460G>A	VUS	1 lab	1880645c3e
6:146350335 GRM1 A>G	6	146350335	146350335	A	G	GRM1	c.-319A>G	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146350335A>G	(Likely) benign	1 lab	1881c71e04
16:1259269 CACNA1H C>T	16	1259269	1259269	C	T	CACNA1H	c.3601C>T	NM_021098.3	NP_066921.2:p.(Pro1201Ser)	NC_000016.9:g.1259269C>T	(Likely) benign	1 lab	1882bb35b7
11:59604754 CBLIF T>C	11	59604754	59604754	T	C	CBLIF	c.764A>G	NM_005142.3	NP_005133.2:p.(Asn255Ser)	NC_000011.9:g.59604754T>C	(Likely) benign	1 lab	1884f22472
1:179523615 NPHS2 C>G	1	179523615	179523615	C	G	NPHS2	c.790G>C	NM_014625.4	NP_055440.1:p.(Glu264Gln)	NC_000001.10:g.179523615C>G	VUS	1 lab	188620bc1a
4:186339620 UFSP2 T>C	4	186339620	186339620	T	C	UFSP2	c.308A>G	NM_018359.5	NP_060829.2:p.(Lys103Arg)	NC_000004.11:g.186339620T>C	(Likely) benign	1 lab	1886246a48
16:1129620 SSTR5 T>C	16	1129620	1129620	T	C	SSTR5	c.752T>C	NM_001172560.3	NP_001166031.1:p.(Leu251Ser)	NC_000016.9:g.1129620T>C	(Likely) benign	1 lab	1887e99d4d
11:16362593 SOX6 C>T	11	16362593	16362593	C	T	SOX6	c.202G>A	NM_001367873.1	NP_001354802.1:p.(Asp68Asn)	NC_000011.9:g.16362593C>T	(Likely) benign	1 lab	188ed3bd11
4:15005749 CPEB2 C>CGGGGGGG	4	15005749	15005752	C	CGGGGGGG	CPEB2	c.1454_1455insGGGGGGG	NM_001177382.2	NP_001170853.1:p.(Phe488ArgfsTer66)	NC_000004.11:g.15005751_15005752insGGGGGGG	(Likely) benign	1 lab	188ed53fde
2:179489273 TTN G>A	2	179489273	179489273	G	A	TTN	c.44734C>T	NM_001267550.2	NP_001254479.2:p.(His14912Tyr)	NC_000002.11:g.179489273G>A	VUS	1 lab	188f719b3b
12:122281725 HPD C>T	12	122281725	122281725	C	T	HPD	c.845G>A	NM_002150.3	NP_002141.2:p.(Arg282Lys)	NC_000012.11:g.122281725C>T	(Likely) benign	1 lab	188fa0010d
3:33877534 PDCD6IP A>C	3	33877534	33877534	A	C	PDCD6IP	c.835-2A>C	NM_013374.6	NP_037506.2:p.?	NC_000003.11:g.33877534A>C	VUS	1 lab	189094b4a9
3:12421189 PPARG A>G	3	12421189	12421189	A	G	PPARG	c.-8-14A>G	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12421189A>G	(Likely) benign	1 lab	1892708a9d
16:30387198 MYL11 A>G	16	30387198	30387198	A	G	MYL11	c.61A>G	NM_013292.5	NP_037424.2:p.(Met21Val)	NC_000016.9:g.30387198A>G	VUS	1 lab	18943416ab
7:128852105 SMO G>A	7	128852105	128852105	G	A	SMO	c.2177G>A	NM_005631.5	NP_005622.1:p.(Arg726Gln)	NC_000007.13:g.128852105G>A	VUS	1 lab	1895002027
14:92441001 TRIP11 C>G	14	92441001	92441001	C	G	TRIP11	c.5544G>C	NM_004239.4	NP_004230.2:p.(Leu1848Phe)	NC_000014.8:g.92441001C>G	(Likely) benign	1 lab	1895f66cd7
11:61543910 MYRF C>T	11	61543910	61543910	C	T	MYRF	c.1499+6C>T	NM_001127392.3	NP_001120864.1:p.?	NC_000011.9:g.61543910C>T	(Likely) benign	1 lab	1896bcbab0
16:72992305 ZFHX3 A>T	16	72992305	72992305	A	T	ZFHX3	c.1740T>A	NM_006885.4	NP_008816.3:p.(Asn580Lys)	NC_000016.9:g.72992305A>T	(Likely) benign	1 lab	189812fac1
9:138683897 KCNT1 C>T	9	138683897	138683897	C	T	KCNT1	c.3598C>T	NM_020822.3	NP_065873.2:p.(Arg1200Cys)	NC_000009.11:g.138683897C>T	(Likely) benign	1 lab	1898cdf44c
9:370255 DOCK8 C>G	9	370255	370255	C	G	DOCK8	c.1823C>G	NM_203447.4	NP_982272.2:p.(Pro608Arg)	NC_000009.11:g.370255C>G	VUS	1 lab	18bee4ce23
8:144877654 SCRIB T>G	8	144877654	144877654	T	G	SCRIB	c.3650A>C	NM_182706.5	NP_874365.3:p.(His1217Pro)	NC_000008.10:g.144877654T>G	(Likely) benign	1 lab	189d4b3f2e
17:6511743 KIAA0753 G>A	17	6511743	6511743	G	A	KIAA0753	c.1754C>T	NM_014804.3	NP_055619.2:p.(Thr585Ile)	NC_000017.10:g.6511743G>A	VUS	1 lab	190f5921e6
21:45705899 AIRE G>A	21	45705899	45705899	G	A	AIRE	c.10G>A	NM_000383.4	NP_000374.1:p.(Asp4Asn)	NC_000021.8:g.45705899G>A	(Likely) benign	1 lab	189dc3a2ce
8:61762639 CHD7 G>A	8	61762639	61762639	G	A	CHD7	c.5405-413G>A	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61762639G>A	(Likely) benign	1 lab	189f551a70
20:25176399 ENTPD6 C>T	20	25176399	25176399	C	T	ENTPD6	c.-120C>T	NM_001247.5	NP_001238.3:p.?	NC_000020.10:g.25176399C>T	(Likely) benign	1 lab	18a015d790
12:125465032 DHX37 G>A	12	125465032	125465032	G	A	DHX37	c.738+4C>T	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125465032G>A	(Likely) benign	1 lab	18a038a8fc
17:4453612 MYBBP1A C>T	17	4453612	4453612	C	T	MYBBP1A	c.1060G>A	NM_014520.4	NP_055335.2:p.(Asp354Asn)	NC_000017.10:g.4453612C>T	(Likely) benign	1 lab	18a0b5201d
X:8763180 FAM9A TCTC>T	X	8763180	8763197	TCTC	T	FAM9A	c.767_769del	NM_174951.3	NP_777611.1:p.(Gly256del)	NC_000023.10:g.8763195_8763197del	VUS	1 lab	18a3b5516b
X:32834733 DMD T>C	X	32834733	32834733	T	C	DMD	c.382A>G	NM_004006.3	NP_003997.2:p.(Met128Val)	NC_000023.10:g.32834733T>C	VUS	1 lab	18a3e858a6
13:32911021 BRCA2 A>G	13	32911021	32911021	A	G	BRCA2	c.2529A>G	NM_000059.4	NP_000050.3:p.(Ala843=)	NC_000013.10:g.32911021A>G	(Likely) benign	1 lab	18a79133b9
X:133512071 PHF6 A>G	X	133512071	133512071	A	G	PHF6	c.175A>G	NM_001015877.2	NP_001015877.1:p.(Asn59Asp)	NC_000023.10:g.133512071A>G	(Likely) benign	1 lab	18a9fb3a5a
1:43215917 P3H1 G>A	1	43215917	43215917	G	A	P3H1	c.1660C>T	NM_022356.4	NP_071751.3:p.(Arg554Cys)	NC_000001.10:g.43215917G>A	VUS	1 lab	18aaa8a100
2:179621171 TTN G>A	2	179621171	179621171	G	A	TTN	c.11032C>T	NM_001267550.2	NP_001254479.2:p.(Gln3678Ter)	NC_000002.11:g.179621171G>A	(Likely) pathogenic	1 lab	18ad414ae4
12:6711144 CHD4 ATCCTCC>A	12	6711144	6711166	ATCCTCC	A	CHD4	c.414_419del	NM_001273.5	NP_001264.2:p.(Glu138_Glu139del)	NC_000012.11:g.6711161_6711166del	(Likely) benign	1 lab	18b004bf20
X:117529293 WDR44 G>A	X	117529293	117529293	G	A	WDR44	c.1039G>A	NM_019045.5	NP_061918.3:p.(Glu347Lys)	NC_000023.10:g.117529293G>A	VUS	1 lab	18b2217f2c
2:179606346 TTN C>T	2	179606346	179606346	C	T	TTN	c.11614G>A	NM_001267550.2	NP_001254479.2:p.(Gly3872Ser)	NC_000002.11:g.179606346C>T	VUS	1 lab	18b33317fd
6:117997033 NUS1 G>C	6	117997033	117997033	G	C	NUS1	c.200G>C	NM_138459.5	NP_612468.1:p.(Arg67Pro)	NC_000006.11:g.117997033G>C	VUS	1 lab	18b353e3e6
2:233498431 EFHD1 T>G	2	233498431	233498431	T	G	EFHD1	c.17T>G	NM_025202.4	NP_079478.1:p.(Leu6Arg)	NC_000002.11:g.233498431T>G	VUS	1 lab	18b5158f53
20:9400565 PLCB4 C>T	20	9400565	9400565	C	T	PLCB4	c.2154+9C>T	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9400565C>T	(Likely) benign	1 lab	18b5b74a6c
2:71778225 DYSF A>G	2	71778225	71778225	A	G	DYSF	c.1631A>G	NM_001130987.2	NP_001124459.1:p.(Tyr544Cys)	NC_000002.11:g.71778225A>G	VUS	1 lab	18b5dc2170
11:45992918 PHF21A TC>T	11	45992918	45992919	TC	T	PHF21A	c.361-1del	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45992919del	VUS	1 lab	18b686b81a
3:41279534 CTNNB1 G>A	3	41279534	41279534	G	A	CTNNB1	c.2104G>A	NM_001904.4	NP_001895.1:p.(Ala702Thr)	NC_000003.11:g.41279534G>A	VUS	1 lab	18b929e670
3:137787127 DZIP1L C>T	3	137787127	137787127	C	T	DZIP1L	c.1698G>A	NM_173543.3	NP_775814.2:p.(Pro566=)	NC_000003.11:g.137787127C>T	(Likely) benign	1 lab	1b0c889bab
10:103827376 HPS6 G>C	10	103827376	103827376	G	C	HPS6	c.2145G>C	NM_024747.6	NP_079023.2:p.(Glu715Asp)	NC_000010.10:g.103827376G>C	(Likely) benign	1 lab	18bbce16bc
16:1576669 IFT140 G>A	16	1576669	1576669	G	A	IFT140	c.2528C>T	NM_014714.4	NP_055529.2:p.(Pro843Leu)	NC_000016.9:g.1576669G>A	VUS	1 lab	18bd4e6948
17:7385380 SLC35G6 G>A	17	7385380	7385380	G	A	SLC35G6	c.77G>A	NM_001102614.2	NP_001096084.1:p.(Arg26His)	NC_000017.10:g.7385380G>A	(Likely) benign	1 lab	18bfad43a6
2:241710544 KIF1A T>G	2	241710544	241710544	T	G	KIF1A	c.1208-23A>C	NM_001244008.2	NP_001230937.1:p.?	NC_000002.11:g.241710544T>G	(Likely) benign	1 lab	18bfc9d798
3:134269011 CEP63 C>G	3	134269011	134269011	C	G	CEP63	c.1289C>G	NM_001353108.3	NP_001340037.1:p.(Thr430Ser)	NC_000003.11:g.134269011C>G	VUS	1 lab	18bfdbebf8
20:8745860 PLCB1 G>C	20	8745860	8745860	G	C	PLCB1	c.2785G>C	NM_015192.4	NP_056007.1:p.(Glu929Gln)	NC_000020.10:g.8745860G>C	VUS	1 lab	18bfe4beab
2:43755131 THADA T>TA	2	43755131	43755140	T	TA	THADA	c.3265-5dup	NM_022065.5	NP_071348.3:p.?	NC_000002.11:g.43755140dup	VUS	1 lab	18c0c94e93
16:23619185 PALB2 C>T	16	23619185	23619185	C	T	PALB2	c.3350G>A	NM_024675.4	NP_078951.2:p.(Arg1117Lys)	NC_000016.9:g.23619185C>T	VUS	1 lab	18c41bd3c0
X:108918119 ACSL4 C>A	X	108918119	108918119	C	A	ACSL4	c.931-417G>T	NM_001318510.2	NP_001305439.1:p.?	NC_000023.10:g.108918119C>A	(Likely) benign	1 lab	18c49c8103
16:88876121 APRT G>A	16	88876121	88876121	G	A	APRT	c.528C>T	NM_000485.3	NP_000476.1:p.(Leu176=)	NC_000016.9:g.88876121G>A	VUS	1 lab	18c5c578c8
2:20205624 MATN3 C>T	2	20205624	20205624	C	T	MATN3	c.671G>A	NM_002381.5	NP_002372.1:p.(Arg224Gln)	NC_000002.11:g.20205624C>T	VUS	1 lab	18c6f17cef
17:10535338 MYH3 C>A	17	10535338	10535338	C	A	MYH3	c.4957-5G>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10535338C>A	(Likely) benign	1 lab	18c803c183
14:21058793 RNASE12 C>A	14	21058793	21058793	C	A	RNASE12	c.90G>T	NM_001024822.4	NP_001019993.1:p.(Leu30Phe)	NC_000014.8:g.21058793C>A	VUS	1 lab	18c8b006e8
4:170510592 NEK1 T>C	4	170510592	170510592	T	C	NEK1	c.464+6A>G	NM_001199397.3	NP_001186326.1:p.?	NC_000004.11:g.170510592T>C	(Likely) benign	1 lab	18caf6fbb4
7:27239168 HOXA13 C>G	7	27239168	27239168	C	G	HOXA13	c.529G>C	NM_000522.5	NP_000513.2:p.(Gly177Arg)	NC_000007.13:g.27239168C>G	(Likely) benign	1 lab	18ccf42977
3:25668727 TOP2B C>T	3	25668727	25668727	C	T	TOP2B	c.1967G>A	NM_001330700.2	NP_001317629.1:p.(Arg656His)	NC_000003.11:g.25668727C>T	VUS	1 lab	18cf32e0d5
17:65942098 BPTF T>G	17	65942098	65942098	T	G	BPTF	c.7274T>G	NM_182641.4	NP_872579.2:p.(Ile2425Arg)	NC_000017.10:g.65942098T>G	(Likely) benign	1 lab	18d024d175
18:8784816 MTCL1 G>A	18	8784816	8784816	G	A	MTCL1	c.2786G>A	NM_001395333.1	NP_001382262.1:p.(Gly929Glu)	NC_000018.9:g.8784816G>A	VUS	1 lab	18d0a1d34d
2:238280650 COL6A3 G>A	2	238280650	238280650	G	A	COL6A3	c.4010C>T	NM_004369.4	NP_004360.2:p.(Pro1337Leu)	NC_000002.11:g.238280650G>A	VUS	1 lab	18d18cd1c2
9:98002921 FANCC ACT>A	9	98002921	98002927	ACT	A	FANCC	c.345+8_345+9del	NM_000136.3	NP_000127.2:p.?	NC_000009.11:g.98002926_98002927del	(Likely) benign	1 lab	18d1aee8a7
1:43917601 HYI C>T	1	43917601	43917601	C	T	HYI	c.505+5G>A	NM_001190880.3	NP_001177809.1:p.?	NC_000001.10:g.43917601C>T	VUS	1 lab	18d244efda
5:138665044 MATR3 A>G	5	138665044	138665044	A	G	MATR3	c.2504A>G	NM_018834.6	NP_061322.2:p.(Asn835Ser)	NC_000005.9:g.138665044A>G	VUS	1 lab	18d285fcd6
2:27681666 IFT172 G>C	2	27681666	27681666	G	C	IFT172	c.2857C>G	NM_015662.3	NP_056477.1:p.(Arg953Gly)	NC_000002.11:g.27681666G>C	(Likely) benign	1 lab	18d3a1146c
1:240370598 FMN2 C>T	1	240370598	240370598	C	T	FMN2	c.2486C>T	NM_020066.5	NP_064450.3:p.(Pro829Leu)	NC_000001.10:g.240370598C>T	VUS	1 lab	18d47052dd
21:30698953 BACH1 T>G	21	30698953	30698953	T	G	BACH1	c.808T>G	NM_001186.4	NP_001177.1:p.(Cys270Gly)	NC_000021.8:g.30698953T>G	(Likely) benign	1 lab	18d4bdc5c3
19:5692223 LONP1 G>C	19	5692223	5692223	G	C	LONP1	c.2704-4C>G	NM_004793.4	NP_004784.2:p.?	NC_000019.9:g.5692223G>C	(Likely) benign	1 lab	18da3d7f7a
19:36221030 KMT2B G>A	19	36221030	36221030	G	A	KMT2B	c.5076+4G>A	NM_014727.3	NP_055542.1:p.?	NC_000019.9:g.36221030G>A	(Likely) benign	1 lab	18db518df3
2:20153665 WDR35 G>A	2	20153665	20153665	G	A	WDR35	c.1330C>T	NM_020779.4	NP_065830.2:p.(Arg444Cys)	NC_000002.11:g.20153665G>A	VUS	1 lab	18ddbb29ea
12:132522645 EP400 AGAATACATT>A	12	132522645	132522658	AGAATACATT	A	EP400	c.6207+9_6207+17del	NM_015409.5	NP_056224.3:p.?	NC_000012.11:g.132522650_132522658del	(Likely) benign	1 lab	18df78eb2f
20:4893558 SLC23A2 TCGCCATGAG>T	20	4893558	4893568	TCGCCATGAG	T	SLC23A2	c.166_174del	NM_005116.6	NP_005107.4:p.(Leu56_Ala58del)	NC_000020.10:g.4893560_4893568del	(Likely) benign	1 lab	18dfd54e8f
16:9857572 GRIN2A G>A	16	9857572	9857572	G	A	GRIN2A	c.3829C>T	NM_000833.5	NP_000824.1:p.(Leu1277Phe)	NC_000016.9:g.9857572G>A	(Likely) benign	1 lab	1ad8ef9a15
16:2287535 DNASE1L2 C>T	16	2287535	2287535	C	T	DNASE1L2	c.476C>T	NM_001374.3	NP_001365.1:p.(Ala159Val)	NC_000016.9:g.2287535C>T	VUS	1 lab	18e56311eb
3:9711157 MTMR14 G>T	3	9711157	9711157	G	T	MTMR14	c.535G>T	NM_001077525.3	NP_001070993.1:p.(Glu179Ter)	NC_000003.11:g.9711157G>T	VUS	1 lab	18e5b180bc
14:102471295 DYNC1H1 A>G	14	102471295	102471295	A	G	DYNC1H1	c.5238+8A>G	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102471295A>G	(Likely) benign	1 lab	18e632ef2d
17:4837317 GP1BA C>T	17	4837317	4837317	C	T	GP1BA	c.1418C>T	NM_000173.7	NP_000164.5:p.(Thr473Ile)	NC_000017.10:g.4837317C>T	(Likely) benign	1 lab	18e678a839
3:64617565 ADAMTS9 G>A	3	64617565	64617565	G	A	ADAMTS9	c.2212C>T	NM_182920.2	NP_891550.1:p.(Arg738Trp)	NC_000003.11:g.64617565G>A	VUS	1 lab	18e8309759
13:26128062 ATP8A2 A>G	13	26128062	26128062	A	G	ATP8A2	c.1185+4A>G	NM_016529.6	NP_057613.4:p.?	NC_000013.10:g.26128062A>G	VUS	1 lab	18e9ae3057
7:44186117 GCK C>A	7	44186117	44186117	C	A	GCK	c.964G>T	NM_000162.5	NP_000153.1:p.(Glu322Ter)	NC_000007.13:g.44186117C>A	(Likely) pathogenic	1 lab	18eaa692da
18:10699105 PIEZO2 A>G	18	10699105	10699105	A	G	PIEZO2	c.6512T>C	NM_001378183.1	NP_001365112.1:p.(Leu2171Pro)	NC_000018.9:g.10699105A>G	(Likely) benign	1 lab	18eab093c5
12:40734175 LRRK2 G>A	12	40734175	40734175	G	A	LRRK2	c.6028G>A	NM_198578.4	NP_940980.4:p.(Ala2010Thr)	NC_000012.11:g.40734175G>A	VUS	1 lab	18eadc6ad5
9:35809429 NPR2 C>T	9	35809429	35809429	C	T	NPR2	c.3131C>T	NM_003995.4	NP_003986.2:p.(Pro1044Leu)	NC_000009.11:g.35809429C>T	VUS	1 lab	18ed0a569e
9:140605441 EHMT1 C>T	9	140605441	140605441	C	T	EHMT1	c.44C>T	NM_024757.5	NP_079033.4:p.(Pro15Leu)	NC_000009.11:g.140605441C>T	(Likely) benign	1 lab	18eedb7865
3:14861608 FGD5 G>A	3	14861608	14861608	G	A	FGD5	c.1030G>A	NM_152536.4	NP_689749.3:p.(Gly344Arg)	NC_000003.11:g.14861608G>A	(Likely) benign	1 lab	18f51a87e5
4:88536520 DSPP T>TAGC	4	88536520	88536523	T	TAGC	DSPP	c.2708_2709insCAG	NM_014208.3	NP_055023.2:p.(Ser903dup)	NC_000004.11:g.88536522_88536523insCAG	VUS	1 lab	18f680acc9
17:19866291 AKAP10 C>T	17	19866291	19866291	C	T	AKAP10	c.181G>A	NM_007202.4	NP_009133.2:p.(Ala61Thr)	NC_000017.10:g.19866291C>T	VUS	1 lab	18f6b17f54
9:139401361 NOTCH1 G>A	9	139401361	139401361	G	A	NOTCH1	c.3708C>T	NM_017617.5	NP_060087.3:p.(Pro1236=)	NC_000009.11:g.139401361G>A	(Likely) benign	1 lab	18f774eeca
4:1806628 FGFR3 C>G	4	1806628	1806628	C	G	FGFR3	c.1344C>G	NM_000142.5	NP_000133.1:p.(Gly448=)	NC_000004.11:g.1806628C>G	VUS	1 lab	18f929536e
10:15689015 ITGA8 A>G	10	15689015	15689015	A	G	ITGA8	c.1037T>C	NM_003638.3	NP_003629.2:p.(Met346Thr)	NC_000010.10:g.15689015A>G	VUS	1 lab	18f98f460f
16:2140972 PKD1 G>C	16	2140972	2140972	G	C	PKD1	c.11916C>G	NM_001009944.3	NP_001009944.3:p.(Arg3972=)	NC_000016.9:g.2140972G>C	(Likely) benign	1 lab	18fa0dfba4
15:89873438 POLG G>T	15	89873438	89873438	G	T	POLG	c.729C>A	NM_002693.3	NP_002684.1:p.(Asp243Glu)	NC_000015.9:g.89873438G>T	VUS	1 lab	18fce15b95
16:28506822 APOBR G>A	16	28506822	28506822	G	A	APOBR	c.460G>A	NM_018690.4	NP_061160.3:p.(Gly154Ser)	NC_000016.9:g.28506822G>A	(Likely) benign	1 lab	18fe6505d3
13:39438517 FREM2 A>G	13	39438517	39438517	A	G	FREM2	c.7757A>G	NM_207361.6	NP_997244.4:p.(Tyr2586Cys)	NC_000013.10:g.39438517A>G	(Likely) benign	1 lab	18fea63510
17:48165591 ITGA3 C>T	17	48165591	48165591	C	T	ITGA3	c.3048C>T	NM_002204.4	NP_002195.1:p.(Cys1016=)	NC_000017.10:g.48165591C>T	(Likely) benign	1 lab	18ff90fcd4
X:131348311 RAP2C G>A	X	131348311	131348311	G	A	RAP2C	c.437C>T	NM_001271186.2	NP_001258115.1:p.(Ser146Leu)	NC_000023.10:g.131348311G>A	VUS	1 lab	19015420f8
19:17729244 UNC13A G>C	19	17729244	17729244	G	C	UNC13A	c.4396C>G	NM_001080421.3	NP_001073890.2:p.(Leu1466Val)	NC_000019.9:g.17729244G>C	VUS	1 lab	1adba15df2
19:12923962 RNASEH2A C>T	19	12923962	12923962	C	T	RNASEH2A	c.703C>T	NM_006397.3	NP_006388.2:p.(Arg235Trp)	NC_000019.9:g.12923962C>T	VUS	1 lab	190504dcc1
11:66001293 PACS1 G>T	11	66001293	66001293	G	T	PACS1	c.1876G>T	NM_018026.4	NP_060496.2:p.(Val626Leu)	NC_000011.9:g.66001293G>T	VUS	1 lab	1905572f81
16:27629838 KATNIP C>T	16	27629838	27629838	C	T	KATNIP	c.140+16C>T	NM_015202.3	NP_056017.3:p.?	NC_000016.9:g.27629838C>T	(Likely) benign	1 lab	1b0d4832e8
X:77912984 RTL3 G>A	X	77912984	77912984	G	A	RTL3	c.934C>T	NM_152694.3	NP_689907.1:p.(Leu312Phe)	NC_000023.10:g.77912984G>A	VUS	1 lab	19070fe4ec
20:4163097 SMOX C>T	20	4163097	4163097	C	T	SMOX	c.971C>T	NM_175839.3	NP_787033.1:p.(Pro324Leu)	NC_000020.10:g.4163097C>T	(Likely) benign	1 lab	1907faf11d
9:75355035 TMC1 G>A	9	75355035	75355035	G	A	TMC1	c.363G>A	NM_138691.3	NP_619636.2:p.(Lys121=)	NC_000009.11:g.75355035G>A	VUS	1 lab	190829970d
12:102047004 MYBPC1 C>A	12	102047004	102047004	C	A	MYBPC1	c.1745C>A	NM_002465.4	NP_002456.2:p.(Ala582Asp)	NC_000012.11:g.102047004C>A	VUS	1 lab	1add2fb764
22:40045568 CACNA1I G>A	22	40045568	40045568	G	A	CACNA1I	c.1630G>A	NM_021096.4	NP_066919.2:p.(Ala544Thr)	NC_000022.10:g.40045568G>A	(Likely) benign	1 lab	1909f2ccdb
5:11018109 CTNND2 C>T	5	11018109	11018109	C	T	CTNND2	c.3061G>A	NM_001332.4	NP_001323.1:p.(Asp1021Asn)	NC_000005.9:g.11018109C>T	VUS	1 lab	190a47c2ce
1:223177413 DISP1 A>T	1	223177413	223177413	A	T	DISP1	c.2674A>T	NM_001377229.1	NP_001364158.1:p.(Arg892Ter)	NC_000001.10:g.223177413A>T	VUS	1 lab	190ad494a7
5:61643935 KIF2A C>G	5	61643935	61643935	C	G	KIF2A	c.220C>G	NM_001098511.3	NP_001091981.1:p.(Pro74Ala)	NC_000005.9:g.61643935C>G	(Likely) benign	1 lab	190b362a76
7:42088186 GLI3 G>T	7	42088186	42088186	G	T	GLI3	c.583C>A	NM_000168.6	NP_000159.3:p.(Pro195Thr)	NC_000007.13:g.42088186G>T	VUS	1 lab	190bc07e96
4:8584320 GPR78 G>T	4	8584320	8584320	G	T	GPR78	c.731G>T	NM_080819.5	NP_543009.2:p.(Gly244Val)	NC_000004.11:g.8584320G>T	(Likely) benign	1 lab	190d046203
1:207757994 CR1 A>T	1	207757994	207757994	A	T	CR1	c.5303A>T	NM_000651.6	NP_000642.3:p.(His1768Leu)	NC_000001.10:g.207757994A>T	VUS	1 lab	190d51b033
19:15230229 HACL2 C>T	19	15230229	15230229	C	T	HACL2	c.914G>A	NM_006844.5	NP_006835.2:p.(Arg305Gln)	NC_000019.9:g.15230229C>T	(Likely) benign	1 lab	190f644a13
12:123414514 ABCB9 C>T	12	123414514	123414514	C	T	ABCB9	c.2245G>A	NM_019625.4	NP_062571.1:p.(Ala749Thr)	NC_000012.11:g.123414514C>T	VUS	1 lab	190f832eb1
1:110466624 CSF1 A>G	1	110466624	110466624	A	G	CSF1	c.1381A>G	NM_000757.6	NP_000748.4:p.(Ser461Gly)	NC_000001.10:g.110466624A>G	VUS	1 lab	1910371218
X:70341297 MED12 G>A	X	70341297	70341297	G	A	MED12	c.846+10G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70341297G>A	(Likely) benign	1 lab	1910ef8a40
9:13217281 MPDZ T>C	9	13217281	13217281	T	C	MPDZ	c.1099A>G	NM_001378778.1	NP_001365707.1:p.(Thr367Ala)	NC_000009.11:g.13217281T>C	(Likely) benign	1 lab	1912122642
5:224574 SDHA G>A	5	224574	224574	G	A	SDHA	c.250G>A	NM_004168.4	NP_004159.2:p.(Gly84Arg)	NC_000005.9:g.224574G>A	VUS	1 lab	1912a63d81
16:64981567 CDH11 G>T	16	64981567	64981567	G	T	CDH11	c.2330C>A	NM_001797.4	NP_001788.2:p.(Pro777His)	NC_000016.9:g.64981567G>T	VUS	1 lab	1912b18240
21:38884427 DYRK1A A>G	21	38884427	38884427	A	G	DYRK1A	c.1858A>G	NM_001347721.2	NP_001334650.1:p.(Arg620Gly)	NC_000021.8:g.38884427A>G	VUS	1 lab	1913574c3a
X:70327613 IL2RG TG>T	X	70327613	70327620	TG	T	IL2RG	c.1082del	NM_000206.3	NP_000197.1:p.(Pro361HisfsTer5)	NC_000023.10:g.70327620del	VUS	1 lab	1913ee17ea
2:48037494 FBXO11 T>C	2	48037494	48037494	T	C	FBXO11	c.2299A>G	NM_001190274.2	NP_001177203.1:p.(Ile767Val)	NC_000002.11:g.48037494T>C	(Likely) benign	1 lab	1914043c35
4:185138911 ENPP6 G>A	4	185138911	185138911	G	A	ENPP6	c.62C>T	NM_153343.4	NP_699174.1:p.(Ser21Phe)	NC_000004.11:g.185138911G>A	(Likely) benign	1 lab	19141406e0
16:2139819 PKD1 A>AGGCGGCTGGGCAGTGCT	16	2139819	2139839	A	AGGCGGCTGGGCAGTGCT	PKD1	c.12804_12820dup	NM_001009944.3	NP_001009944.3:p.(Leu4274GlnfsTer90)	NC_000016.9:g.2139823_2139839dup	(Likely) pathogenic	1 lab	1915406152
15:76578081 ETFA T>C	15	76578081	76578081	T	C	ETFA	c.563-2A>G	NM_000126.4	NP_000117.1:p.?	NC_000015.9:g.76578081T>C	(Likely) pathogenic	1 lab	192510ed41
17:40842828 CNTNAP1 C>T	17	40842828	40842828	C	T	CNTNAP1	c.1927C>T	NM_003632.3	NP_003623.1:p.(Arg643Trp)	NC_000017.10:g.40842828C>T	VUS	1 lab	191762c14c
10:102988500 LBX1 G>A	10	102988500	102988500	G	A	LBX1	c.73C>T	NM_006562.5	NP_006553.2:p.(Pro25Ser)	NC_000010.10:g.102988500G>A	VUS	1 lab	1918002b07
X:10188776 CLCN4 C>T	X	10188776	10188776	C	T	CLCN4	c.2051C>T	NM_001830.4	NP_001821.2:p.(Pro684Leu)	NC_000023.10:g.10188776C>T	VUS	1 lab	1918583ba3
X:152584544 PNMA6F C>T	X	152584544	152584544	C	T	PNMA6F	c.1589G>A	NM_001354980.2	NP_001341909.1:p.(Trp530Ter)	NC_000023.10:g.152584544C>T	VUS	1 lab	19195eff70
1:11316163 MTOR G>A	1	11316163	11316163	G	A	MTOR	c.591C>T	NM_004958.4	NP_004949.1:p.(Ala197=)	NC_000001.10:g.11316163G>A	(Likely) benign	1 lab	191b5c4e84
8:16859361 FGF20 G>T	8	16859361	16859361	G	T	FGF20	c.181C>A	NM_019851.3	NP_062825.1:p.(His61Asn)	NC_000008.10:g.16859361G>T	VUS	1 lab	191ca913bc
2:179499467 TTN G>T	2	179499467	179499467	G	T	TTN	c.42134C>A	NM_001267550.2	NP_001254479.2:p.(Ala14045Asp)	NC_000002.11:g.179499467G>T	VUS	1 lab	191dcf9dd5
2:241468887 ANKMY1 C>T	2	241468887	241468887	C	T	ANKMY1	c.520G>A	NM_001282771.3	NP_001269700.1:p.(Glu174Lys)	NC_000002.11:g.241468887C>T	(Likely) benign	1 lab	191e1416c3
14:69341653 ACTN1 T>A	14	69341653	69341653	T	A	ACTN1	c.2668A>T	NM_001130004.2	NP_001123476.1:p.(Thr890Ser)	NC_000014.8:g.69341653T>A	(Likely) benign	1 lab	191ec3a36f
12:117993053 KSR2 T>C	12	117993053	117993053	T	C	KSR2	c.1439A>G	NM_173598.6	NP_775869.4:p.(Asn480Ser)	NC_000012.11:g.117993053T>C	(Likely) benign	1 lab	191feea328
X:106110089 TBC1D8B C>G	X	106110089	106110089	C	G	TBC1D8B	c.2725C>G	NM_017752.3	NP_060222.2:p.(Pro909Ala)	NC_000023.10:g.106110089C>G	VUS	1 lab	192137a58a
X:103495090 ESX1 G>C	X	103495090	103495090	G	C	ESX1	c.1040C>G	NM_153448.4	NP_703149.1:p.(Pro347Arg)	NC_000023.10:g.103495090G>C	(Likely) benign	1 lab	1921d12598
15:89386738 ACAN G>A	15	89386738	89386738	G	A	ACAN	c.910G>A	NM_001369268.1	NP_001356197.1:p.(Asp304Asn)	NC_000015.9:g.89386738G>A	VUS	1 lab	1922b7258f
14:50251694 NEMF C>T	14	50251694	50251694	C	T	NEMF	c.3102G>A	NM_004713.6	NP_004704.3:p.(Met1034Ile)	NC_000014.8:g.50251694C>T	VUS	1 lab	19235ed27f
2:25472524 DNMT3A A>C	2	25472524	25472524	A	C	DNMT3A	c.640-1403T>G	NM_022552.5	NP_072046.2:p.?	NC_000002.11:g.25472524A>C	(Likely) benign	1 lab	19250eda1f
2:149221497 MBD5 T>C	2	149221497	149221497	T	C	MBD5	c.397+9T>C	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.149221497T>C	(Likely) benign	1 lab	19258fecf8
7:40127726 CDK13 C>T	7	40127726	40127726	C	T	CDK13	c.3031C>T	NM_003718.5	NP_003709.3:p.(Leu1011Phe)	NC_000007.13:g.40127726C>T	(Likely) benign	1 lab	1926c6ca7e
10:73115867 SLC29A3 G>A	10	73115867	73115867	G	A	SLC29A3	c.640G>A	NM_018344.6	NP_060814.4:p.(Val214Met)	NC_000010.10:g.73115867G>A	VUS	1 lab	19276b13bd
2:54852004 SPTBN1 A>G	2	54852004	54852004	A	G	SPTBN1	c.1246A>G	NM_003128.3	NP_003119.2:p.(Arg416Gly)	NC_000002.11:g.54852004A>G	VUS	1 lab	192a1d54aa
X:64734711 LAS1L G>T	X	64734711	64734711	G	T	LAS1L	c.2070C>A	NM_031206.7	NP_112483.1:p.(Cys690Ter)	NC_000023.10:g.64734711G>T	VUS	1 lab	192aac2d18
2:75276563 TACR1 G>A	2	75276563	75276563	G	A	TACR1	c.1220C>T	NM_001058.4	NP_001049.1:p.(Ser407Phe)	NC_000002.11:g.75276563G>A	(Likely) benign	1 lab	192b2de41e
14:23873937 MYH6 T>C	14	23873937	23873937	T	C	MYH6	c.625A>G	NM_002471.4	NP_002462.2:p.(Asn209Asp)	NC_000014.8:g.23873937T>C	(Likely) benign	1 lab	192b4e77ed
15:89392911 ACAN C>G	15	89392911	89392911	C	G	ACAN	c.1975C>G	NM_001369268.1	NP_001356197.1:p.(Gln659Glu)	NC_000015.9:g.89392911C>G	VUS	1 lab	192c9eed73
16:2159667 PKD1 T>C	16	2159667	2159667	T	C	PKD1	c.5501A>G	NM_001009944.3	NP_001009944.3:p.(Asn1834Ser)	NC_000016.9:g.2159667T>C	VUS	1 lab	192cc443eb
5:79616938 SPZ1 G>A	5	79616938	79616938	G	A	SPZ1	c.904G>A	NM_032567.4	NP_115956.3:p.(Glu302Lys)	NC_000005.9:g.79616938G>A	(Likely) benign	1 lab	192fa3ae7d
17:27816785 TAOK1 G>A	17	27816785	27816785	G	A	TAOK1	c.749+10G>A	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27816785G>A	(Likely) benign	1 lab	1930e05bd7
1:26670790 CRYBG2 G>A	1	26670790	26670790	G	A	CRYBG2	c.2359C>T	NM_001039775.4	NP_001034864.2:p.(Arg787Ter)	NC_000001.10:g.26670790G>A	VUS	1 lab	1935527ee7
11:130068886 ST14 G>A	11	130068886	130068886	G	A	ST14	c.1729G>A	NM_021978.4	NP_068813.1:p.(Gly577Arg)	NC_000011.9:g.130068886G>A	VUS	1 lab	1938553f35
14:29236703 FOXG1 A>AGCC	14	29236703	29236721	A	AGCC	FOXG1	c.234_236dup	NM_005249.5	NP_005240.3:p.(Pro80dup)	NC_000014.8:g.29236719_29236721dup	(Likely) benign	1 lab	193916406b
13:52586580 ALG11 G>C	13	52586580	52586580	G	C	ALG11	c.26G>C	NM_001004127.3	NP_001004127.2:p.(Cys9Ser)	NC_000013.10:g.52586580G>C	(Likely) benign	1 lab	1939eb2412
5:176637705 NSD1 A>C	5	176637705	176637705	A	C	NSD1	c.2305A>C	NM_022455.5	NP_071900.2:p.(Lys769Gln)	NC_000005.9:g.176637705A>C	VUS	1 lab	193ad04722
13:77853043 MYCBP2 T>C	13	77853043	77853043	T	C	MYCBP2	c.598A>G	NM_015057.5	NP_055872.4:p.(Ile200Val)	NC_000013.10:g.77853043T>C	VUS	1 lab	193f8be44b
2:189873821 COL3A1 G>C	2	189873821	189873821	G	C	COL3A1	c.3697G>C	NM_000090.4	NP_000081.2:p.(Glu1233Gln)	NC_000002.11:g.189873821G>C	VUS	1 lab	19404c4355
19:55450771 NLRP7 C>A	19	55450771	55450771	C	A	NLRP7	c.1416G>T	NM_001127255.2	NP_001120727.1:p.(Gln472His)	NC_000019.9:g.55450771C>A	VUS	1 lab	194051a225
12:57113064 NACA C>A	12	57113064	57113064	C	A	NACA	c.2250G>T	NM_001365896.1	NP_001352825.1:p.(Lys750Asn)	NC_000012.11:g.57113064C>A	(Likely) benign	1 lab	1941888973
2:99766945 TSGA10 G>T	2	99766945	99766945	G	T	TSGA10	c.-621+4211C>A	NM_025244.4	NP_079520.1:p.?	NC_000002.11:g.99766945G>T	(Likely) benign	1 lab	1942b6187b
1:1451380 ATAD3A T>C	1	1451380	1451380	T	C	ATAD3A	c.206-12T>C	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1451380T>C	(Likely) benign	1 lab	1adfdf54ec
3:52556632 STAB1 G>A	3	52556632	52556632	G	A	STAB1	c.6672G>A	NM_015136.3	NP_055951.2:p.(Ser2224=)	NC_000003.11:g.52556632G>A	(Likely) benign	1 lab	1944b23bc2
17:7490810 MPDU1 G>A	17	7490810	7490810	G	A	MPDU1	c.685G>A	NM_004870.4	NP_004861.2:p.(Ala229Thr)	NC_000017.10:g.7490810G>A	(Likely) benign	1 lab	1ae1119832
17:65908153 BPTF A>G	17	65908153	65908153	A	G	BPTF	c.4153A>G	NM_182641.4	NP_872579.2:p.(Thr1385Ala)	NC_000017.10:g.65908153A>G	(Likely) benign	1 lab	1944be4064
6:168439381 KIF25 C>T	6	168439381	168439381	C	T	KIF25	c.466C>T	NM_030615.4	NP_085118.2:p.(Arg156Trp)	NC_000006.11:g.168439381C>T	(Likely) benign	1 lab	1944fffd37
2:163123856 IFIH1 C>G	2	163123856	163123856	C	G	IFIH1	c.2932G>C	NM_022168.4	NP_071451.2:p.(Asp978His)	NC_000002.11:g.163123856C>G	(Likely) benign	1 lab	194504e490
11:33127193 CSTF3 G>A	11	33127193	33127193	G	A	CSTF3	c.505C>T	NM_001326.3	NP_001317.1:p.(Arg169Ter)	NC_000011.9:g.33127193G>A	VUS	1 lab	19452260cf
17:78335610 RNF213 G>A	17	78335610	78335610	G	A	RNF213	c.11277G>A	NM_001256071.3	NP_001243000.2:p.(Pro3759=)	NC_000017.10:g.78335610G>A	(Likely) benign	1 lab	19466febf7
20:60886987 LAMA5 G>A	20	60886987	60886987	G	A	LAMA5	c.9624C>T	NM_005560.6	NP_005551.3:p.(Ser3208=)	NC_000020.10:g.60886987G>A	(Likely) benign	1 lab	1948838bb8
5:36249778 RANBP3L CTG>C	5	36249778	36249782	CTG	C	RANBP3L	c.1374_1375del	NM_145000.5	NP_659437.3:p.(His458GlnfsTer32)	NC_000005.9:g.36249781_36249782del	VUS	1 lab	194a0b0d82
2:149226441 MBD5 TG>T	2	149226441	149226442	TG	T	MBD5	c.930del	NM_001378120.1	NP_001365049.1:p.(Met310IlefsTer42)	NC_000002.11:g.149226442del	(Likely) pathogenic	1 lab	194d84eaad
10:95518462 LGI1 T>C	10	95518462	95518462	T	C	LGI1	c.216-55T>C	NM_005097.3	NP_005088.1:p.?	NC_000010.10:g.95518462T>C	(Likely) benign	1 lab	1b106b972b
2:113513700 CKAP2L CTG>C	2	113513700	113513704	CTG	C	CKAP2L	c.1246_1247del	NM_152515.5	NP_689728.3:p.(Gln416AspfsTer26)	NC_000002.11:g.113513703_113513704del	VUS	1 lab	194df0fe2c
X:24605407 PCYT1B C>A	X	24605407	24605407	C	A	PCYT1B	c.516G>T	NM_004845.5	NP_004836.2:p.(Pro172=)	NC_000023.10:g.24605407C>A	(Likely) benign	1 lab	194e1b9407
3:33114046 GLB1 C>T	3	33114046	33114046	C	T	GLB1	c.235G>A	NM_000404.4	NP_000395.3:p.(Ala79Thr)	NC_000003.11:g.33114046C>T	VUS	1 lab	19518443fa
20:60894840 LAMA5 G>A	20	60894840	60894840	G	A	LAMA5	c.6771C>T	NM_005560.6	NP_005551.3:p.(Thr2257=)	NC_000020.10:g.60894840G>A	(Likely) benign	1 lab	1953c10d52
20:60884852 LAMA5 G>A	20	60884852	60884852	G	A	LAMA5	c.10868C>T	NM_005560.6	NP_005551.3:p.(Ala3623Val)	NC_000020.10:g.60884852G>A	(Likely) benign	1 lab	1955702c57
6:168431475 KIF25 C>A	6	168431475	168431475	C	A	KIF25	c.115C>A	NM_030615.4	NP_085118.2:p.(Gln39Lys)	NC_000006.11:g.168431475C>A	(Likely) benign	1 lab	1955b02319
19:38987175 RYR1 G>A	19	38987175	38987175	G	A	RYR1	c.6790G>A	NM_000540.3	NP_000531.2:p.(Gly2264Ser)	NC_000019.9:g.38987175G>A	VUS	1 lab	195adee736
6:145157481 UTRN G>A	6	145157481	145157481	G	A	UTRN	c.9869G>A	NM_007124.3	NP_009055.2:p.(Arg3290Gln)	NC_000006.11:g.145157481G>A	(Likely) benign	1 lab	195b868860
10:74928066 FAM149B1 TGAGGAG>T	10	74928066	74928098	TGAGGAG	T	FAM149B1	c.-5_1del	NM_173348.2	NP_775483.1:p.(Met1?)	NC_000010.10:g.74928093_74928098del	(Likely) benign	1 lab	195bfb5b25
6:21595904 SOX4 C>T	6	21595904	21595904	C	T	SOX4	c.1139C>T	NM_003107.3	NP_003098.1:p.(Ser380Phe)	NC_000006.11:g.21595904C>T	(Likely) benign	1 lab	1961dffc5f
7:100853725 PLOD3 C>G	7	100853725	100853725	C	G	PLOD3	c.1501G>C	NM_001084.5	NP_001075.1:p.(Gly501Arg)	NC_000007.13:g.100853725C>G	VUS	1 lab	1962c36140
7:97498324 ASNS G>A	7	97498324	97498324	G	A	ASNS	c.145C>T	NM_001673.5	NP_001664.3:p.(Arg49Trp)	NC_000007.13:g.97498324G>A	VUS	1 lab	1964cd6e72
14:96769536 ATG2B G>A	14	96769536	96769536	G	A	ATG2B	c.4899C>T	NM_018036.7	NP_060506.6:p.(Leu1633=)	NC_000014.8:g.96769536G>A	(Likely) benign	1 lab	196709c213
7:44228508 GCK C>T	7	44228508	44228508	C	T	GCK	c.45G>A	NM_000162.5	NP_000153.1:p.(Lys15=)	NC_000007.13:g.44228508C>T	(Likely) pathogenic	1 lab	1967baf017
3:38889146 SCN11A C>T	3	38889146	38889146	C	T	SCN11A	c.4415G>A	NM_001349253.2	NP_001336182.1:p.(Arg1472Gln)	NC_000003.11:g.38889146C>T	VUS	1 lab	1967d89360
1:237765394 RYR2 G>C	1	237765394	237765394	G	C	RYR2	c.4666G>C	NM_001035.3	NP_001026.2:p.(Glu1556Gln)	NC_000001.10:g.237765394G>C	VUS	1 lab	1968585285
12:12871002 CDKN1B C>T	12	12871002	12871002	C	T	CDKN1B	c.229C>T	NM_004064.5	NP_004055.1:p.(Gln77Ter)	NC_000012.11:g.12871002C>T	(Likely) pathogenic	1 lab	1ae1f63ad1
X:49034345 PRICKLE3 T>C	X	49034345	49034345	T	C	PRICKLE3	c.952A>G	NM_006150.5	NP_006141.2:p.(Ile318Val)	NC_000023.10:g.49034345T>C	VUS	1 lab	1ae90df459
11:124749193 ROBO3 A>C	11	124749193	124749193	A	C	ROBO3	c.3641A>C	NM_022370.4	NP_071765.2:p.(His1214Pro)	NC_000011.9:g.124749193A>C	(Likely) benign	1 lab	196c592e09
1:200534594 KIF14 C>T	1	200534594	200534594	C	T	KIF14	c.3865G>A	NM_014875.3	NP_055690.1:p.(Asp1289Asn)	NC_000001.10:g.200534594C>T	VUS	1 lab	196caca8be
X:48887787 TFE3 G>A	X	48887787	48887787	G	A	TFE3	c.1610C>T	NM_006521.6	NP_006512.2:p.(Ser537Leu)	NC_000023.10:g.48887787G>A	(Likely) benign	1 lab	196eeaf137
6:51824740 PKHD1 C>T	6	51824740	51824740	C	T	PKHD1	c.5836G>A	NM_138694.4	NP_619639.3:p.(Val1946Ile)	NC_000006.11:g.51824740C>T	VUS	1 lab	196f7ec75c
8:28574234 EXTL3 G>T	8	28574234	28574234	G	T	EXTL3	c.658G>T	NM_001440.4	NP_001431.1:p.(Ala220Ser)	NC_000008.10:g.28574234G>T	VUS	1 lab	197047d1c8
22:29754706 AP1B1 G>A	22	29754706	29754706	G	A	AP1B1	c.525+9C>T	NM_001127.4	NP_001118.3:p.?	NC_000022.10:g.29754706G>A	VUS	1 lab	1970631abb
14:57088364 TMEM260 C>T	14	57088364	57088364	C	T	TMEM260	c.1342C>T	NM_017799.4	NP_060269.3:p.(Arg448Cys)	NC_000014.8:g.57088364C>T	VUS	1 lab	1972e7cb7c
17:54671939 NOG G>A	17	54671939	54671939	G	A	NOG	c.355G>A	NM_005450.6	NP_005441.1:p.(Glu119Lys)	NC_000017.10:g.54671939G>A	VUS	1 lab	19742c40ae
16:68725760 CDH3 G>A	16	68725760	68725760	G	A	CDH3	c.1933G>A	NM_001793.6	NP_001784.2:p.(Glu645Lys)	NC_000016.9:g.68725760G>A	(Likely) benign	1 lab	197464155c
1:160252235 PEX19 C>A	1	160252235	160252235	C	A	PEX19	c.404G>T	NM_002857.4	NP_002848.1:p.(Gly135Val)	NC_000001.10:g.160252235C>A	VUS	1 lab	1974da84d0
19:50917141 POLD1 G>A	19	50917141	50917141	G	A	POLD1	c.2388+5G>A	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50917141G>A	(Likely) benign	1 lab	19759a6a79
1:27661952 TMEM222 C>T	1	27661952	27661952	C	T	TMEM222	c.622C>T	NM_032125.3	NP_115501.2:p.(Arg208Trp)	NC_000001.10:g.27661952C>T	(Likely) benign	1 lab	1976cf15e9
1:57528562 DAB1 C>G	1	57528562	57528562	C	G	DAB1	c.718G>C	NM_001365792.1	NP_001352721.1:p.(Val240Leu)	NC_000001.10:g.57528562C>G	(Likely) benign	1 lab	1977db725a
15:91423478 FURIN A>T	15	91423478	91423478	A	T	FURIN	c.1531A>T	NM_002569.4	NP_002560.1:p.(Thr511Ser)	NC_000015.9:g.91423478A>T	VUS	1 lab	197b695c95
19:2853223 ZNF555 A>G	19	2853223	2853223	A	G	ZNF555	c.1160A>G	NM_152791.5	NP_690004.4:p.(Glu387Gly)	NC_000019.9:g.2853223A>G	VUS	1 lab	197e1ca112
1:22155558 HSPG2 G>A	1	22155558	22155558	G	A	HSPG2	c.12007C>T	NM_005529.7	NP_005520.4:p.(Arg4003Trp)	NC_000001.10:g.22155558G>A	VUS	1 lab	197f088038
15:23686228 GOLGA6L2 G>T	15	23686228	23686228	G	T	GOLGA6L2	c.1394C>A	NM_001304388.2	NP_001291317.1:p.(Thr465Lys)	NC_000015.9:g.23686228G>T	VUS	1 lab	1980ae6fe9
4:128812843 PLK4 G>T	4	128812843	128812843	G	T	PLK4	c.2038+7G>T	NM_014264.5	NP_055079.3:p.?	NC_000004.11:g.128812843G>T	(Likely) benign	1 lab	19813b0ff1
X:39932074 BCOR A>G	X	39932074	39932074	A	G	BCOR	c.2525T>C	NM_001123385.2	NP_001116857.1:p.(Val842Ala)	NC_000023.10:g.39932074A>G	(Likely) benign	1 lab	198217585e
11:118377114 KMT2A G>C	11	118377114	118377114	G	C	KMT2A	c.10507G>C	NM_001197104.2	NP_001184033.1:p.(Ala3503Pro)	NC_000011.9:g.118377114G>C	(Likely) benign	1 lab	1982377b6e
6:157100021 ARID1B A>G	6	157100021	157100021	A	G	ARID1B	c.1207A>G	NM_001374828.1	NP_001361757.1:p.(Ser403Gly)	NC_000006.11:g.157100021A>G	(Likely) benign	1 lab	1982aa0007
4:981722 IDUA A>T	4	981722	981722	A	T	IDUA	c.284A>T	NM_000203.5	NP_000194.2:p.(Glu95Val)	NC_000004.11:g.981722A>T	VUS	1 lab	1982fd649d
2:48010633 MSH6 G>C	2	48010633	48010633	G	C	MSH6	c.260+1G>C	NM_000179.3	NP_000170.1:p.?	NC_000002.11:g.48010633G>C	(Likely) pathogenic	1 lab	198375f14d
3:47882360 DHX30 C>A	3	47882360	47882360	C	A	DHX30	c.367-7C>A	NM_138615.3	NP_619520.1:p.?	NC_000003.11:g.47882360C>A	VUS	1 lab	19844f18d5
7:31018828 GHRHR C>T	7	31018828	31018828	C	T	GHRHR	c.1241C>T	NM_000823.4	NP_000814.2:p.(Ser414Leu)	NC_000007.13:g.31018828C>T	(Likely) benign	1 lab	19851474fa
5:126140586 LMNB1 G>C	5	126140586	126140586	G	C	LMNB1	c.478G>C	NM_005573.4	NP_005564.1:p.(Glu160Gln)	NC_000005.9:g.126140586G>C	VUS	1 lab	1985f8ea0f
1:160098871 ATP1A2 G>T	1	160098871	160098871	G	T	ATP1A2	c.1318G>T	NM_000702.4	NP_000693.1:p.(Val440Leu)	NC_000001.10:g.160098871G>T	(Likely) benign	1 lab	198610093f
16:12136918 SNX29 G>A	16	12136918	12136918	G	A	SNX29	c.412G>A	NM_032167.5	NP_115543.3:p.(Asp138Asn)	NC_000016.9:g.12136918G>A	VUS	1 lab	1987f5a4bd
2:73800178 ALMS1 C>A	2	73800178	73800178	C	A	ALMS1	c.11174C>A	NM_001378454.1	NP_001365383.1:p.(Pro3725Gln)	NC_000002.11:g.73800178C>A	VUS	1 lab	198ade3b44
11:640502 DRD4 T>G	11	640502	640502	T	G	DRD4	c.1159T>G	NM_000797.4	NP_000788.2:p.(Trp387Gly)	NC_000011.9:g.640502T>G	VUS	1 lab	198b6a7ce2
X:36223104 CFAP47 A>T	X	36223104	36223104	A	T	CFAP47	c.6694A>T	NM_001304548.2	NP_001291477.1:p.(Arg2232Trp)	NC_000023.10:g.36223104A>T	(Likely) benign	1 lab	198cccec60
7:123302011 LMOD2 A>T	7	123302011	123302011	A	T	LMOD2	c.371A>T	NM_207163.3	NP_997046.1:p.(Glu124Val)	NC_000007.13:g.123302011A>T	VUS	1 lab	198cf7b306
2:240900566 NDUFA10 T>G	2	240900566	240900566	T	G	NDUFA10	c.1037A>C	NM_004544.4	NP_004535.1:p.(Glu346Ala)	NC_000002.11:g.240900566T>G	(Likely) benign	1 lab	198ec6ccad
11:103228971 DYNC2H1 G>A	11	103228971	103228971	G	A	DYNC2H1	c.12040G>A	NM_001377.3	NP_001368.2:p.(Val4014Ile)	NC_000011.9:g.103228971G>A	VUS	1 lab	1990ea954f
4:170618496 CLCN3 C>T	4	170618496	170618496	C	T	CLCN3	c.1174C>T	NM_001829.4	NP_001820.2:p.(Pro392Ser)	NC_000004.11:g.170618496C>T	VUS	1 lab	19911f48f5
12:121175696 ACADS T>C	12	121175696	121175696	T	C	ACADS	c.529T>C	NM_000017.4	NP_000008.1:p.(Trp177Arg)	NC_000012.11:g.121175696T>C	(Likely) pathogenic	1 lab	19913bc663
3:12421273 PPARG C>T	3	12421273	12421273	C	T	PPARG	c.63C>T	NM_138711.6	NP_619725.3:p.(Ser21=)	NC_000003.11:g.12421273C>T	(Likely) benign	1 lab	1992bcf5c3
X:19413216 MAP3K15 A>G	X	19413216	19413216	A	G	MAP3K15	c.2177T>C	NM_001001671.4	NP_001001671.3:p.(Met726Thr)	NC_000023.10:g.19413216A>G	VUS	1 lab	1994bbfe70
22:42322134 TNFRSF13C G>A	22	42322134	42322134	G	A	TNFRSF13C	c.338C>T	NM_052945.3	NP_443177.1:p.(Ser113Phe)	NC_000022.10:g.42322134G>A	(Likely) benign	1 lab	33cb35c681
2:122159100 CLASP1 G>C	2	122159100	122159100	G	C	CLASP1	c.2948C>G	NM_001395891.1	NP_001382820.1:p.(Ala983Gly)	NC_000002.11:g.122159100G>C	VUS	1 lab	19982c1922
5:94859484 SKIC3 A>G	5	94859484	94859484	A	G	SKIC3	c.1507T>C	NM_014639.4	NP_055454.1:p.(Tyr503His)	NC_000005.9:g.94859484A>G	VUS	1 lab	199966b769
18:10696466 PIEZO2 G>C	18	10696466	10696466	G	C	PIEZO2	c.6899C>G	NM_001378183.1	NP_001365112.1:p.(Thr2300Ser)	NC_000018.9:g.10696466G>C	VUS	1 lab	1999e09dee
2:209116182 IDH1 A>C	2	209116182	209116182	A	C	IDH1	c.94T>G	NM_005896.4	NP_005887.2:p.(Phe32Val)	NC_000002.11:g.209116182A>C	(Likely) benign	1 lab	199c7fcc7a
1:156561887 NAXE C>G	1	156561887	156561887	C	G	NAXE	c.183-6C>G	NM_144772.3	NP_658985.2:p.?	NC_000001.10:g.156561887C>G	(Likely) benign	1 lab	199e3e05b3
17:72839545 GRIN2C T>G	17	72839545	72839545	T	G	GRIN2C	c.2731A>C	NM_000835.6	NP_000826.2:p.(Ser911Arg)	NC_000017.10:g.72839545T>G	VUS	1 lab	199f38b707
18:76753491 SALL3 C>T	18	76753491	76753491	C	T	SALL3	c.1500C>T	NM_171999.4	NP_741996.2:p.(Gly500=)	NC_000018.9:g.76753491C>T	(Likely) benign	1 lab	199ffaf4fe
3:172165364 GHSR G>C	3	172165364	172165364	G	C	GHSR	c.796+44C>G	NM_198407.2	NP_940799.1:p.?	NC_000003.11:g.172165364G>C	(Likely) benign	1 lab	19a1203b6c
1:22199175 HSPG2 G>C	1	22199175	22199175	G	C	HSPG2	c.3967C>G	NM_005529.7	NP_005520.4:p.(Leu1323Val)	NC_000001.10:g.22199175G>C	(Likely) benign	1 lab	19a30b6ab9
9:108366525 FKTN G>C	9	108366525	108366525	G	C	FKTN	c.399G>C	NM_001079802.2	NP_001073270.1:p.(Met133Ile)	NC_000009.11:g.108366525G>C	VUS	1 lab	19a446323b
12:49433266 KMT2D A>G	12	49433266	49433266	A	G	KMT2D	c.8181T>C	NM_003482.4	NP_003473.3:p.(Pro2727=)	NC_000012.11:g.49433266A>G	(Likely) benign	1 lab	19a6a5a243
9:113148236 SVEP1 G>T	9	113148236	113148236	G	T	SVEP1	c.10179C>A	NM_153366.4	NP_699197.3:p.(His3393Gln)	NC_000009.11:g.113148236G>T	VUS	1 lab	19a7e86826
4:85701361 WDFY3 G>C	4	85701361	85701361	G	C	WDFY3	c.4265C>G	NM_014991.6	NP_055806.2:p.(Ser1422Cys)	NC_000004.11:g.85701361G>C	(Likely) benign	1 lab	19a81c724c
18:19371462 MIB1 G>T	18	19371462	19371462	G	T	MIB1	c.1036G>T	NM_020774.4	NP_065825.1:p.(Glu346Ter)	NC_000018.9:g.19371462G>T	VUS	1 lab	19a9580423
10:89503257 PAPSS2 C>T	10	89503257	89503257	C	T	PAPSS2	c.1350C>T	NM_001015880.2	NP_001015880.1:p.(Gly450=)	NC_000010.10:g.89503257C>T	(Likely) benign	1 lab	19aa07adff
17:80887299 TBCD C>T	17	80887299	80887299	C	T	TBCD	c.2914C>T	NM_005993.5	NP_005984.3:p.(Leu972Phe)	NC_000017.10:g.80887299C>T	VUS	1 lab	19ab555459
10:89720653 PTEN C>A	10	89720653	89720653	C	A	PTEN	c.804C>A	NM_000314.8	NP_000305.3:p.(Asp268Glu)	NC_000010.10:g.89720653C>A	VUS	1 lab	19b0f3a707
9:139396503 NOTCH1 C>T	9	139396503	139396503	C	T	NOTCH1	c.5422G>A	NM_017617.5	NP_060087.3:p.(Asp1808Asn)	NC_000009.11:g.139396503C>T	(Likely) benign	1 lab	19b32ac0e9
2:179430569 TTN C>T	2	179430569	179430569	C	T	TTN	c.80290G>A	NM_001267550.2	NP_001254479.2:p.(Gly26764Arg)	NC_000002.11:g.179430569C>T	VUS	1 lab	19b555c438
1:148577824 NBPF15 A>T	1	148577824	148577824	A	T	NBPF15	c.175A>T	NM_001385408.1	NP_001372337.1:p.(Lys59Ter)	NC_000001.10:g.148577824A>T	VUS	1 lab	19b576c684
6:100965860 ASCC3 CA>C	6	100965860	100965862	CA	C	ASCC3	c.5927+6del	NM_006828.4	NP_006819.2:p.?	NC_000006.11:g.100965862del	(Likely) benign	1 lab	19b6dc4a10
5:137734043 KDM3B T>C	5	137734043	137734043	T	C	KDM3B	c.3008T>C	NM_016604.4	NP_057688.3:p.(Met1003Thr)	NC_000005.9:g.137734043T>C	VUS	1 lab	19b7179e68
15:42152916 SPTBN5 T>C	15	42152916	42152916	T	C	SPTBN5	c.7856A>G	NM_016642.4	NP_057726.4:p.(Lys2619Arg)	NC_000015.9:g.42152916T>C	VUS	1 lab	19b726149f
8:144999390 PLEC C>G	8	144999390	144999390	C	G	PLEC	c.4707G>C	NM_201384.3	NP_958786.1:p.(Thr1569=)	NC_000008.10:g.144999390C>G	(Likely) benign	1 lab	19b810fd20
14:74706508 VSX2 G>A	14	74706508	74706508	G	A	VSX2	c.244G>A	NM_182894.3	NP_878314.1:p.(Gly82Arg)	NC_000014.8:g.74706508G>A	VUS	1 lab	19b84cfccf
17:2604528 CLUH C>T	17	2604528	2604528	C	T	CLUH	c.931G>A	NM_001366661.1	NP_001353590.1:p.(Ala311Thr)	NC_000017.10:g.2604528C>T	VUS	1 lab	19b913b566
1:247587830 NLRP3 T>A	1	247587830	247587830	T	A	NLRP3	c.1079T>A	NM_001243133.2	NP_001230062.1:p.(Leu360Gln)	NC_000001.10:g.247587830T>A	(Likely) benign	1 lab	19bced4401
6:97730434 MMS22L TG>T	6	97730434	97730447	TG	T	MMS22L	c.-76-6del	NM_001350599.2	NP_001337528.1:p.?	NC_000006.11:g.97730447del	(Likely) benign	1 lab	19bd67d322
4:54231640 SCFD2 G>A	4	54231640	54231640	G	A	SCFD2	c.469C>T	NM_152540.4	NP_689753.2:p.(Pro157Ser)	NC_000004.11:g.54231640G>A	(Likely) benign	1 lab	19bd881166
1:44201904 ST3GAL3 G>A	1	44201904	44201904	G	A	ST3GAL3	c.-30G>A	NM_006279.5	NP_006270.1:p.?	NC_000001.10:g.44201904G>A	(Likely) benign	1 lab	19be0537dd
12:39750680 KIF21A TCTC>T	12	39750680	39750686	TCTC	T	KIF21A	c.1420_1422del	NM_001173464.2	NP_001166935.1:p.(Glu474del)	NC_000012.11:g.39750684_39750686del	VUS	1 lab	19be09e8b2
10:118969742 KCNK18 A>C	10	118969742	118969742	A	C	KCNK18	c.1087A>C	NM_181840.1	NP_862823.1:p.(Ile363Leu)	NC_000010.10:g.118969742A>C	(Likely) benign	1 lab	19bfeb0d83
11:88924436 TYR C>T	11	88924436	88924436	C	T	TYR	c.886C>T	NM_000372.5	NP_000363.1:p.(Pro296Ser)	NC_000011.9:g.88924436C>T	VUS	1 lab	19c20e3f8b
6:29640779 ZFP57 C>G	6	29640779	29640779	C	G	ZFP57	c.1109G>C	NM_001109809.5	NP_001103279.2:p.(Arg370Thr)	NC_000006.11:g.29640779C>G	(Likely) benign	1 lab	19c2367c32
16:1268513 CACNA1H C>T	16	1268513	1268513	C	T	CACNA1H	c.5749C>T	NM_021098.3	NP_066921.2:p.(Arg1917Cys)	NC_000016.9:g.1268513C>T	(Likely) benign	1 lab	19c3cd66fe
11:62389362 B3GAT3 G>A	11	62389362	62389362	G	A	B3GAT3	c.58C>T	NM_012200.4	NP_036332.2:p.(Leu20Phe)	NC_000011.9:g.62389362G>A	VUS	1 lab	19c4bc5c76
15:26793040 GABRB3 T>C	15	26793040	26793040	T	C	GABRB3	c.1322A>G	NM_000814.6	NP_000805.1:p.(Asp441Gly)	NC_000015.9:g.26793040T>C	VUS	1 lab	19c4d04805
2:27598471 SNX17 C>T	2	27598471	27598471	C	T	SNX17	c.873C>T	NM_014748.4	NP_055563.1:p.(Ser291=)	NC_000002.11:g.27598471C>T	VUS	1 lab	19c598d0dc
11:126306903 KIRREL3 G>A	11	126306903	126306903	G	A	KIRREL3	c.1355C>T	NM_032531.4	NP_115920.1:p.(Ala452Val)	NC_000011.9:g.126306903G>A	(Likely) benign	1 lab	19c5ad9cc4
15:99439968 IGF1R T>C	15	99439968	99439968	T	C	IGF1R	c.954-18T>C	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99439968T>C	(Likely) benign	1 lab	19c69f9611
6:31080009 C6orf15 T>C	6	31080009	31080009	T	C	C6orf15	c.127A>G	NM_014070.3	NP_054789.2:p.(Asn43Asp)	NC_000006.11:g.31080009T>C	(Likely) benign	1 lab	19c715c188
10:135186745 ECHS1 C>T	10	135186745	135186745	C	T	ECHS1	c.88+5G>A	NM_004092.4	NP_004083.3:p.?	NC_000010.10:g.135186745C>T	(Likely) pathogenic	1 lab	19c76a2968
17:3422073 TRPV3 C>T	17	3422073	3422073	C	T	TRPV3	c.1882G>A	NM_145068.4	NP_659505.1:p.(Ala628Thr)	NC_000017.10:g.3422073C>T	(Likely) benign	1 lab	19c9040f28
X:48935335 WDR45 C>T	X	48935335	48935335	C	T	WDR45	c.202G>A	NM_001029896.2	NP_001025067.1:p.(Gly68Ser)	NC_000023.10:g.48935335C>T	(Likely) benign	1 lab	19ca363f2f
X:152097151 ZNF185 TC>T	X	152097151	152097153	TC	T	ZNF185	c.865del	NM_001395254.1	NP_001382183.1:p.(Leu289Ter)	NC_000023.10:g.152097153del	(Likely) benign	1 lab	19ccd97537
16:30750585 SRCAP G>A	16	30750585	30750585	G	A	SRCAP	c.9224G>A	NM_006662.3	NP_006653.2:p.(Gly3075Glu)	NC_000016.9:g.30750585G>A	(Likely) benign	1 lab	19cff64294
17:42992787 GFAP C>G	17	42992787	42992787	C	G	GFAP	c.68G>C	NM_002055.5	NP_002046.1:p.(Gly23Ala)	NC_000017.10:g.42992787C>G	VUS	1 lab	19d12ec712
X:9900811 SHROOM2 C>T	X	9900811	9900811	C	T	SHROOM2	c.3488C>T	NM_001649.4	NP_001640.1:p.(Thr1163Met)	NC_000023.10:g.9900811C>T	VUS	1 lab	19d1975d16
3:145806460 PLOD2 T>C	3	145806460	145806460	T	C	PLOD2	c.918A>G	NM_182943.3	NP_891988.1:p.(Gln306=)	NC_000003.11:g.145806460T>C	(Likely) benign	1 lab	19d3c41952
11:118339559 KMT2A G>C	11	118339559	118339559	G	C	KMT2A	c.502G>C	NM_001197104.2	NP_001184033.1:p.(Val168Leu)	NC_000011.9:g.118339559G>C	VUS	1 lab	19d430ac95
16:14576552 PARN C>G	16	14576552	14576552	C	G	PARN	c.1613G>C	NM_002582.4	NP_002573.1:p.(Arg538Pro)	NC_000016.9:g.14576552C>G	VUS	1 lab	19d43145c4
7:128492691 FLNC G>A	7	128492691	128492691	G	A	FLNC	c.5889G>A	NM_001458.5	NP_001449.3:p.(Thr1963=)	NC_000007.13:g.128492691G>A	(Likely) benign	1 lab	19d4817557
6:106969204 CRYBG1 A>G	6	106969204	106969204	A	G	CRYBG1	c.4121A>G	NM_001371242.2	NP_001358171.1:p.(Glu1374Gly)	NC_000006.11:g.106969204A>G	VUS	1 lab	19d4e37b10
8:87563313 CPNE3 ACCT>A	8	87563313	87563320	ACCT	A	CPNE3	c.1058_1060del	NM_003909.5	NP_003900.1:p.(Pro353del)	NC_000008.10:g.87563318_87563320del	VUS	1 lab	19d4e73f10
1:152275481 FLG C>A	1	152275481	152275481	C	A	FLG	c.11881G>T	NM_002016.2	NP_002007.1:p.(Glu3961Ter)	NC_000001.10:g.152275481C>A	VUS	1 lab	19d50532b2
2:48010448 MSH6 AGGGC>A	2	48010448	48010452	AGGGC	A	MSH6	c.77_80del	NM_000179.3	NP_000170.1:p.(Arg26ThrfsTer54)	NC_000002.11:g.48010449_48010452del	(Likely) pathogenic	1 lab	19d5fb482b
6:87970612 ZNF292 ATCT>A	6	87970612	87970619	ATCT	A	ZNF292	c.7270_7272del	NM_015021.3	NP_055836.1:p.(Leu2424del)	NC_000006.11:g.87970617_87970619del	(Likely) benign	1 lab	19d6b775d3
9:88275887 AGTPBP1 C>T	9	88275887	88275887	C	T	AGTPBP1	c.664G>A	NM_001330701.2	NP_001317630.1:p.(Val222Ile)	NC_000009.11:g.88275887C>T	VUS	1 lab	19d929e507
7:98553889 TRRAP G>A	7	98553889	98553889	G	A	TRRAP	c.6058G>A	NM_001375524.1	NP_001362453.1:p.(Val2020Ile)	NC_000007.13:g.98553889G>A	(Likely) benign	1 lab	19db435d69
16:88925169 TRAPPC2L G>A	16	88925169	88925169	G	A	TRAPPC2L	c.176G>A	NM_001318525.2	NP_001305454.1:p.(Gly59Asp)	NC_000016.9:g.88925169G>A	VUS	1 lab	19db97c40b
18:6964722 LAMA1 G>A	18	6964722	6964722	G	A	LAMA1	c.7276C>T	NM_005559.4	NP_005550.2:p.(Leu2426Phe)	NC_000018.9:g.6964722G>A	VUS	1 lab	19dc160499
21:27372381 APP G>A	21	27372381	27372381	G	A	APP	c.982C>T	NM_000484.4	NP_000475.1:p.(Arg328Trp)	NC_000021.8:g.27372381G>A	VUS	1 lab	19dfffdb32
19:3115071 GNA11 G>GATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCTTTGAGAACGTGACATCCATCATGTTTCTCGTCGCCCTCAGCGAA	19	3115071	3115072	G	GATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCTTTGAGAACGTGACATCCATCATGTTTCTCGTCGCCCTCAGCGAA	GNA11	c.605+1_605+2insATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCTTTGAGAACGTGACATCCATCATGTTTCTCGTCGCCCTCAGCGAA	NM_002067.5	NP_002058.2:p.?	NC_000019.9:g.3115071_3115072insATGGTGGATGTGGGGGGCCAGCGGTCGGAGCGGAGGAAGTGGATCCACTGCTTTGAGAACGTGACATCCATCATGTTTCTCGTCGCCCTCAGCGAA	VUS	1 lab	19e0fa1d7f
X:70587466 TAF1 G>A	X	70587466	70587466	G	A	TAF1	c.235+3G>A	NM_004606.5	NP_004597.3:p.?	NC_000023.10:g.70587466G>A	(Likely) benign	1 lab	1af133bddd
15:91273099 BLM CGA>C	15	91273099	91273101	CGA	C	BLM	c.-5+12429_-5+12430del	NM_000057.4	NP_000048.1:p.?	NC_000015.9:g.91273100_91273101del	(Likely) benign	1 lab	19e15f20cd
13:36886491 SPART T>A	13	36886491	36886491	T	A	SPART	c.1607A>T	NM_015087.5	NP_055902.1:p.(Asp536Val)	NC_000013.10:g.36886491T>A	VUS	1 lab	19e2951d44
15:90191709 KIF7 G>T	15	90191709	90191709	G	T	KIF7	c.1220C>A	NM_198525.3	NP_940927.2:p.(Ala407Asp)	NC_000015.9:g.90191709G>T	VUS	1 lab	19e2bd1fe6
1:11190697 MTOR CGTGGTGGCGGCA>C	1	11190697	11190718	CGTGGTGGCGGCA	C	MTOR	c.5490_5501del	NM_004958.4	NP_004949.1:p.(Thr1834_Thr1837del)	NC_000001.10:g.11190707_11190718del	(Likely) benign	1 lab	19e694067b
16:66847525 NAE1 G>A	16	66847525	66847525	G	A	NAE1	c.976C>T	NM_003905.4	NP_003896.1:p.(Arg326Ter)	NC_000016.9:g.66847525G>A	VUS	1 lab	30396c532d
18:72999734 TSHZ1 C>G	18	72999734	72999734	C	G	TSHZ1	c.2372C>G	NM_001308210.2	NP_001295139.1:p.(Pro791Arg)	NC_000018.9:g.72999734C>G	(Likely) benign	1 lab	19ea31b44b
X:70341667 MED12 G>A	X	70341667	70341667	G	A	MED12	c.1101+1G>A	NM_005120.3	NP_005111.2:p.?	NC_000023.10:g.70341667G>A	(Likely) pathogenic	1 lab	1af398e794
2:20133164 WDR35 G>A	2	20133164	20133164	G	A	WDR35	c.2656C>T	NM_020779.4	NP_065830.2:p.(Gln886Ter)	NC_000002.11:g.20133164G>A	(Likely) pathogenic	1 lab	19eb6f841f
5:60834685 ZSWIM6 G>A	5	60834685	60834685	G	A	ZSWIM6	c.2426G>A	NM_020928.2	NP_065979.1:p.(Arg809His)	NC_000005.9:g.60834685G>A	(Likely) benign	1 lab	19eebfbb2c
10:105215216 CALHM1 C>A	10	105215216	105215216	C	A	CALHM1	c.844G>T	NM_001001412.4	NP_001001412.3:p.(Gly282Cys)	NC_000010.10:g.105215216C>A	(Likely) benign	1 lab	19ef178aab
2:216243897 FN1 T>G	2	216243897	216243897	T	G	FN1	c.5578A>C	NM_212482.4	NP_997647.2:p.(Asn1860His)	NC_000002.11:g.216243897T>G	(Likely) benign	1 lab	19effcf211
4:68514887 UBA6 C>T	4	68514887	68514887	C	T	UBA6	c.1147G>A	NM_018227.6	NP_060697.4:p.(Ala383Thr)	NC_000004.11:g.68514887C>T	VUS	1 lab	19f1850a89
14:29236945 FOXG1 G>T	14	29236945	29236945	G	T	FOXG1	c.460G>T	NM_005249.5	NP_005240.3:p.(Glu154Ter)	NC_000014.8:g.29236945G>T	(Likely) pathogenic	1 lab	19f1bb9cbf
5:14280497 TRIO G>A	5	14280497	14280497	G	A	TRIO	c.299G>A	NM_007118.4	NP_009049.2:p.(Arg100Gln)	NC_000005.9:g.14280497G>A	(Likely) benign	1 lab	19f2d0aa86
17:78013774 CCDC40 A>G	17	78013774	78013774	A	G	CCDC40	c.257A>G	NM_017950.4	NP_060420.2:p.(Tyr86Cys)	NC_000017.10:g.78013774A>G	(Likely) benign	1 lab	19f42eb12c
3:160122270 SMC4 A>G	3	160122270	160122270	A	G	SMC4	c.665A>G	NM_001002800.3	NP_001002800.1:p.(His222Arg)	NC_000003.11:g.160122270A>G	(Likely) benign	1 lab	19f51b678a
11:85438614 SYTL2 C>T	11	85438614	85438614	C	T	SYTL2	c.1787G>A	NM_206927.4	NP_996810.2:p.(Gly596Glu)	NC_000011.9:g.85438614C>T	VUS	1 lab	19f6be791e
4:96036861 BMPR1B G>T	4	96036861	96036861	G	T	BMPR1B	c.272G>T	NM_001203.3	NP_001194.1:p.(Arg91Ile)	NC_000004.11:g.96036861G>T	VUS	1 lab	19f79b2af8
17:29556278 NF1 C>T	17	29556278	29556278	C	T	NF1	c.2645C>T	NM_001042492.3	NP_001035957.1:p.(Ser882Phe)	NC_000017.10:g.29556278C>T	VUS	1 lab	19f7c18e26
8:41798485 KAT6A G>A	8	41798485	41798485	G	A	KAT6A	c.2914C>T	NM_006766.5	NP_006757.2:p.(Arg972Cys)	NC_000008.10:g.41798485G>A	VUS	1 lab	19fb4b169a
18:55998138 NEDD4L T>A	18	55998138	55998138	T	A	NEDD4L	c.982T>A	NM_001144967.3	NP_001138439.1:p.(Ser328Thr)	NC_000018.9:g.55998138T>A	VUS	1 lab	19fc11f5cc
16:29821429 MAZ AGCGGCAGCG>A	16	29821429	29821449	AGCGGCAGCG	A	MAZ	c.1323_1331del	NM_002383.4	NP_002374.2:p.(Ala446_Ala448del)	NC_000016.9:g.29821441_29821449del	(Likely) benign	1 lab	19fd108461
10:70229801 DNA2 C>T	10	70229801	70229801	C	T	DNA2	c.194G>A	NM_001080449.3	NP_001073918.2:p.(Arg65His)	NC_000010.10:g.70229801C>T	(Likely) benign	1 lab	1a4c0647db
16:88800372 PIEZO1 GTCCTCC>G	16	88800372	88800397	GTCCTCC	G	PIEZO1	c.2265_2270del	NM_001142864.4	NP_001136336.2:p.(Glu755_Glu756del)	NC_000016.9:g.88800392_88800397del	(Likely) benign	1 lab	19fe7bba89
15:91303204 BLM G>T	15	91303204	91303204	G	T	BLM	c.1088-173G>T	NM_000057.4	NP_000048.1:p.?	NC_000015.9:g.91303204G>T	(Likely) benign	1 lab	19ff01a912
1:1421974 ATAD3B C>G	1	1421974	1421974	C	G	ATAD3B	c.1140C>G	NM_031921.6	NP_114127.3:p.(Asp380Glu)	NC_000001.10:g.1421974C>G	(Likely) benign	1 lab	19ff071d4f
2:228141151 COL4A3 C>A	2	228141151	228141151	C	A	COL4A3	c.1978C>A	NM_000091.5	NP_000082.2:p.(Pro660Thr)	NC_000002.11:g.228141151C>A	VUS	1 lab	1a00156aaf
1:157557183 FCRL4 G>C	1	157557183	157557183	G	C	FCRL4	c.730C>G	NM_031282.3	NP_112572.1:p.(Pro244Ala)	NC_000001.10:g.157557183G>C	VUS	1 lab	1a022b72a3
22:42607915 TCF20 G>A	22	42607915	42607915	G	A	TCF20	c.3397C>T	NM_001378418.1	NP_001365347.1:p.(Arg1133Trp)	NC_000022.10:g.42607915G>A	(Likely) benign	1 lab	1a02683f8b
3:127336174 MCM2 T>C	3	127336174	127336174	T	C	MCM2	c.1826T>C	NM_004526.4	NP_004517.2:p.(Ile609Thr)	NC_000003.11:g.127336174T>C	VUS	1 lab	1a037946d2
17:56692625 TEX14 G>A	17	56692625	56692625	G	A	TEX14	c.849C>T	NM_031272.5	NP_112562.3:p.(Ala283=)	NC_000017.10:g.56692625G>A	VUS	1 lab	1a2442d0e6
19:59010153 SLC27A5 T>C	19	59010153	59010153	T	C	SLC27A5	c.1895A>G	NM_012254.3	NP_036386.1:p.(Gln632Arg)	NC_000019.9:g.59010153T>C	VUS	1 lab	1a03b1d866
1:225600281 LBR T>C	1	225600281	225600281	T	C	LBR	c.959A>G	NM_002296.4	NP_002287.2:p.(His320Arg)	NC_000001.10:g.225600281T>C	(Likely) benign	1 lab	1a04363a04
11:6645516 DCHS1 G>A	11	6645516	6645516	G	A	DCHS1	c.7391C>T	NM_003737.4	NP_003728.1:p.(Ala2464Val)	NC_000011.9:g.6645516G>A	(Likely) benign	1 lab	1a04471f30
12:133084796 FBRSL1 AAGAAGCCCCGGG>A	12	133084796	133084810	AAGAAGCCCCGGG	A	FBRSL1	c.352_363del	NM_001367871.1	NP_001354800.1:p.(Lys118_Glu121del)	NC_000012.11:g.133084799_133084810del	VUS	1 lab	1a04ad6d75
X:100745515 ARMCX4 A>G	X	100745515	100745515	A	G	ARMCX4	c.1939A>G	NM_001256155.3	NP_001243084.2:p.(Lys647Glu)	NC_000023.10:g.100745515A>G	VUS	1 lab	1a05bd4452
8:118812072 EXT1 G>A	8	118812072	118812072	G	A	EXT1	c.2120C>T	NM_000127.3	NP_000118.2:p.(Thr707Met)	NC_000008.10:g.118812072G>A	VUS	1 lab	1a071c45be
11:17419891 ABCC8 G>A	11	17419891	17419891	G	A	ABCC8	c.3748C>T	NM_000352.6	NP_000343.2:p.(Arg1250Ter)	NC_000011.9:g.17419891G>A	(Likely) pathogenic	1 lab	1afbf3f6dc
15:102303674 MISSING A>G	15	102303674	102303674	A	G	MISSING				NC_000015.9:g.102303674A>G	(Likely) benign	1 lab	1bf9bb8e39
9:140095118 TPRN G>A	9	140095118	140095118	G	A	TPRN	c.46C>T	NM_001128228.3	NP_001121700.2:p.(Pro16Ser)	NC_000009.11:g.140095118G>A	(Likely) benign	1 lab	1a08174cc8
5:153030010 GRIA1 A>G	5	153030010	153030010	A	G	GRIA1	c.581A>G	NM_000827.4	NP_000818.2:p.(Lys194Arg)	NC_000005.9:g.153030010A>G	VUS	1 lab	1a08e35d78
7:158706913 DYNC2I1 G>GT	7	158706913	158706921	G	GT	DYNC2I1	c.1703-3dup	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158706921dup	(Likely) benign	1 lab	1a08ec21ae
X:103359423 SLC25A53 CA>C	X	103359423	103359425	CA	C	SLC25A53	c.-31-9453del	NM_001012755.5	NP_001012773.2:p.?	NC_000023.10:g.103359425del	(Likely) benign	1 lab	1a09b76f11
12:7362722 PEX5 G>A	12	7362722	7362722	G	A	PEX5	c.1823G>A	NM_001351132.2	NP_001338061.1:p.(Arg608His)	NC_000012.11:g.7362722G>A	VUS	1 lab	1a0c87b6dc
3:58129247 FLNB G>A	3	58129247	58129247	G	A	FLNB	c.5332G>A	NM_001457.4	NP_001448.2:p.(Asp1778Asn)	NC_000003.11:g.58129247G>A	VUS	1 lab	1a0d5ea019
5:42424705 GHR G>A	5	42424705	42424705	G	A	GHR	c.-12+648G>A	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42424705G>A	(Likely) benign	1 lab	1a0da65068
15:57554382 TCF12 C>G	15	57554382	57554382	C	G	TCF12	c.1558C>G	NM_207037.2	NP_996920.1:p.(His520Asp)	NC_000015.9:g.57554382C>G	(Likely) benign	1 lab	1a0f117435
2:219204577 PNKD GCTACC>G	2	219204577	219204585	GCTACC	G	PNKD	c.312_316del	NM_015488.5	NP_056303.3:p.(Tyr104Ter)	NC_000002.11:g.219204581_219204585del	VUS	1 lab	1a147a765d
22:42611305 TCF20 A>G	22	42611305	42611305	A	G	TCF20	c.7T>C	NM_001378418.1	NP_001365347.1:p.(Ser3Pro)	NC_000022.10:g.42611305A>G	VUS	1 lab	1a15fb274a
6:44270223 AARS2 G>A	6	44270223	44270223	G	A	AARS2	c.2392C>T	NM_020745.4	NP_065796.2:p.(Gln798Ter)	NC_000006.11:g.44270223G>A	(Likely) pathogenic	1 lab	1a16462dbd
14:68244308 ZFYVE26 G>A	14	68244308	68244308	G	A	ZFYVE26	c.4942C>T	NM_015346.4	NP_056161.2:p.(Arg1648Cys)	NC_000014.8:g.68244308G>A	VUS	1 lab	1a189828fe
17:8412002 MYH10 A>G	17	8412002	8412002	A	G	MYH10	c.3091-7T>C	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8412002A>G	(Likely) benign	1 lab	1a18c40930
15:90210395 PLIN1 G>A	15	90210395	90210395	G	A	PLIN1	c.981C>T	NM_002666.5	NP_002657.3:p.(Gly327=)	NC_000015.9:g.90210395G>A	(Likely) benign	1 lab	1a1a7e9c59
22:32193660 DEPDC5 A>T	22	32193660	32193660	A	T	DEPDC5	c.842A>T	NM_001242896.3	NP_001229825.1:p.(Tyr281Phe)	NC_000022.10:g.32193660A>T	VUS	1 lab	1a1a9b37bd
2:74900824 SEMA4F G>A	2	74900824	74900824	G	A	SEMA4F	c.691G>A	NM_004263.5	NP_004254.2:p.(Val231Met)	NC_000002.11:g.74900824G>A	(Likely) benign	1 lab	1a1bf2131c
2:179616770 TTN G>GAAAAA	2	179616770	179616785	G	GAAAAA	TTN	c.11311+1076_11311+1080dup	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179616781_179616785dup	(Likely) benign	1 lab	1a1e3fc41a
13:39603413 PROSER1 C>A	13	39603413	39603413	C	A	PROSER1	c.275+5G>T	NM_025138.5	NP_079414.3:p.?	NC_000013.10:g.39603413C>A	VUS	1 lab	1a1e7f7e71
12:123200533 HCAR3 C>T	12	123200533	123200533	C	T	HCAR3	c.752G>A	NM_006018.3	NP_006009.2:p.(Arg251Gln)	NC_000012.11:g.123200533C>T	VUS	1 lab	1a21287e91
17:36099457 HNF1B A>G	17	36099457	36099457	A	G	HNF1B	c.518T>C	NM_000458.4	NP_000449.1:p.(Val173Ala)	NC_000017.10:g.36099457A>G	VUS	1 lab	1a21b2e30f
16:88873749 CDT1 C>CGCTT	16	88873749	88873750	C	CGCTT	CDT1	c.1336_1337insGCTT	NM_030928.4	NP_112190.2:p.(Gln446ArgfsTer12)	NC_000016.9:g.88873749_88873750insGCTT	VUS	1 lab	1a22195011
2:109371437 RANBP2 G>A	2	109371437	109371437	G	A	RANBP2	c.2279G>A	NM_006267.5	NP_006258.3:p.(Gly760Asp)	NC_000002.11:g.109371437G>A	(Likely) benign	1 lab	1a224853ef
12:57638123 STAC3 T>C	12	57638123	57638123	T	C	STAC3	c.833A>G	NM_145064.3	NP_659501.1:p.(Asp278Gly)	NC_000012.11:g.57638123T>C	VUS	1 lab	1a241b012f
2:39249925 SOS1 A>T	2	39249925	39249925	A	T	SOS1	c.1644T>A	NM_005633.4	NP_005624.2:p.(Ser548Arg)	NC_000002.11:g.39249925A>T	VUS	1 lab	1a2460851e
2:152739862 CACNB4 C>G	2	152739862	152739862	C	G	CACNB4	c.170G>C	NM_000726.5	NP_000717.2:p.(Ser57Thr)	NC_000002.11:g.152739862C>G	VUS	1 lab	1a25fd2eb7
1:1452566 ATAD3A G>A	1	1452566	1452566	G	A	ATAD3A	c.283-125G>A	NM_001170535.3	NP_001164006.1:p.?	NC_000001.10:g.1452566G>A	(Likely) benign	1 lab	1a261efef7
5:137488184 BRD8 TGGA>T	5	137488184	137488192	TGGA	T	BRD8	c.2840_2842del	NM_139199.2	NP_631938.2:p.(Leu947del)	NC_000005.9:g.137488190_137488192del	VUS	1 lab	1a270f70a2
8:144945176 EPPK1 A>C	8	144945176	144945176	A	C	EPPK1	c.2246T>G	NM_031308.4	NP_112598.3:p.(Phe749Cys)	NC_000008.10:g.144945176A>C	(Likely) benign	1 lab	1a2c78bd3e
15:99434842 IGF1R G>T	15	99434842	99434842	G	T	IGF1R	c.929G>T	NM_000875.5	NP_000866.1:p.(Gly310Val)	NC_000015.9:g.99434842G>T	VUS	1 lab	1a2cf18f65
5:71490700 MAP1B A>T	5	71490700	71490700	A	T	MAP1B	c.1518A>T	NM_005909.5	NP_005900.2:p.(Lys506Asn)	NC_000005.9:g.71490700A>T	(Likely) benign	1 lab	1a2e508085
16:2152437 PKD1 G>A	16	2152437	2152437	G	A	PKD1	c.9146C>T	NM_001009944.3	NP_001009944.3:p.(Thr3049Ile)	NC_000016.9:g.2152437G>A	VUS	1 lab	1a2f4d5a06
13:110814628 COL4A1 AC>A	13	110814628	110814631	AC	A	COL4A1	c.4410del	NM_001845.6	NP_001836.3:p.(Tyr1471ThrfsTer71)	NC_000013.10:g.110814631del	(Likely) pathogenic	1 lab	1a2fcbbf2c
15:64005722 HERC1 A>G	15	64005722	64005722	A	G	HERC1	c.4293T>C	NM_003922.4	NP_003913.3:p.(Leu1431=)	NC_000015.9:g.64005722A>G	(Likely) benign	1 lab	1a30e48c70
7:31008688 GHRHR G>A	7	31008688	31008688	G	A	GHRHR	c.171G>A	NM_000823.4	NP_000814.2:p.(Ala57=)	NC_000007.13:g.31008688G>A	(Likely) benign	1 lab	1a310d8c92
20:44642071 MMP9 C>G	20	44642071	44642071	C	G	MMP9	c.1508C>G	NM_004994.3	NP_004985.2:p.(Thr503Arg)	NC_000020.10:g.44642071C>G	(Likely) benign	1 lab	1a31652214
7:84644489 SEMA3D G>A	7	84644489	84644489	G	A	SEMA3D	c.1589C>T	NM_001384900.1	NP_001371829.1:p.(Ser530Phe)	NC_000007.13:g.84644489G>A	VUS	1 lab	1a3207bfe6
6:152646407 SYNE1 C>T	6	152646407	152646407	C	T	SYNE1	c.15469G>A	NM_182961.4	NP_892006.3:p.(Glu5157Lys)	NC_000006.11:g.152646407C>T	(Likely) benign	1 lab	1a32b817cf
3:65342705 MAGI1 T>C	3	65342705	65342705	T	C	MAGI1	c.3737A>G	NM_001033057.2	NP_001028229.1:p.(Tyr1246Cys)	NC_000003.11:g.65342705T>C	VUS	1 lab	1a32f75a5f
11:125488264 STT3A C>T	11	125488264	125488264	C	T	STT3A	c.1775-4C>T	NM_152713.5	NP_689926.1:p.?	NC_000011.9:g.125488264C>T	(Likely) benign	1 lab	1a3336f043
2:141473614 LRP1B C>G	2	141473614	141473614	C	G	LRP1B	c.5951G>C	NM_018557.3	NP_061027.2:p.(Gly1984Ala)	NC_000002.11:g.141473614C>G	VUS	1 lab	1a33f3c129
10:88476164 LDB3 A>C	10	88476164	88476164	A	C	LDB3	c.1312A>C	NM_007078.3	NP_009009.1:p.(Thr438Pro)	NC_000010.10:g.88476164A>C	(Likely) benign	1 lab	1a3450d878
1:23649530 HNRNPR G>A	1	23649530	23649530	G	A	HNRNPR	c.675+519C>T	NM_005826.5	NP_005817.1:p.?	NC_000001.10:g.23649530G>A	(Likely) benign	1 lab	1a3562e164
6:43488709 POLR1C C>G	6	43488709	43488709	C	G	POLR1C	c.845C>G	NM_203290.4	NP_976035.1:p.(Thr282Ser)	NC_000006.11:g.43488709C>G	VUS	1 lab	1a372e8f8a
19:15297746 NOTCH3 C>T	19	15297746	15297746	C	T	NOTCH3	c.1894G>A	NM_000435.3	NP_000426.2:p.(Gly632Arg)	NC_000019.9:g.15297746C>T	VUS	1 lab	1a37a4d34e
4:48549745 FRYL G>A	4	48549745	48549745	G	A	FRYL	c.4930C>T	NM_015030.2	NP_055845.1:p.(Arg1644Cys)	NC_000004.11:g.48549745G>A	VUS	1 lab	1a38dbda15
12:6687206 CHD4 G>A	12	6687206	6687206	G	A	CHD4	c.5217C>T	NM_001273.5	NP_001264.2:p.(Ala1739=)	NC_000012.11:g.6687206G>A	(Likely) benign	1 lab	1a39840f97
8:95416309 RAD54B T>A	8	95416309	95416309	T	A	RAD54B	c.940A>T	NM_012415.3	NP_036547.1:p.(Met314Leu)	NC_000008.10:g.95416309T>A	(Likely) benign	1 lab	1a3a0f6471
2:179575624 TTN G>A	2	179575624	179575624	G	A	TTN	c.28200C>T	NM_001267550.2	NP_001254479.2:p.(Asp9400=)	NC_000002.11:g.179575624G>A	(Likely) benign	1 lab	1afc8e073c
3:52384528 DNAH1 G>A	3	52384528	52384528	G	A	DNAH1	c.2651G>A	NM_015512.5	NP_056327.4:p.(Arg884Gln)	NC_000003.11:g.52384528G>A	(Likely) benign	1 lab	1a3b5eb7d8
10:127461326 MMP21 A>AG	10	127461326	127461331	A	AG	MMP21	c.698-8dup	NM_147191.1	NP_671724.1:p.?	NC_000010.10:g.127461331dup	(Likely) benign	1 lab	1a3c90166c
8:144995493 PLEC G>A	8	144995493	144995493	G	A	PLEC	c.8496C>T	NM_201384.3	NP_958786.1:p.(Arg2832=)	NC_000008.10:g.144995493G>A	(Likely) benign	1 lab	1a3ee456a8
17:42636380 FZD2 C>T	17	42636380	42636380	C	T	FZD2	c.1324C>T	NM_001466.4	NP_001457.1:p.(Arg442Cys)	NC_000017.10:g.42636380C>T	VUS	1 lab	1a40bb1b05
16:8905499 PMM2 A>G	16	8905499	8905499	A	G	PMM2	c.452A>G	NM_000303.3	NP_000294.1:p.(Glu151Gly)	NC_000016.9:g.8905499A>G	(Likely) pathogenic	1 lab	1a419523b3
11:17424308 ABCC8 G>A	11	17424308	17424308	G	A	ABCC8	c.3558-8C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17424308G>A	(Likely) benign	1 lab	1a41b62040
19:38969109 RYR1 G>A	19	38969109	38969109	G	A	RYR1	c.4489G>A	NM_000540.3	NP_000531.2:p.(Gly1497Arg)	NC_000019.9:g.38969109G>A	VUS	1 lab	1a41d35de0
18:20529578 RBBP8 T>C	18	20529578	20529578	T	C	RBBP8	c.153-3T>C	NM_002894.3	NP_002885.1:p.?	NC_000018.9:g.20529578T>C	(Likely) benign	1 lab	1a41e23d28
19:5694903 LONP1 C>G	19	5694903	5694903	C	G	LONP1	c.2023G>C	NM_004793.4	NP_004784.2:p.(Val675Leu)	NC_000019.9:g.5694903C>G	(Likely) benign	1 lab	1a436b1159
13:111109648 COL4A2 G>A	13	111109648	111109648	G	A	COL4A2	c.1340-42G>A	NM_001846.4	NP_001837.2:p.?	NC_000013.10:g.111109648G>A	(Likely) benign	1 lab	1a456be668
19:36339181 NPHS1 T>C	19	36339181	36339181	T	C	NPHS1	c.1289A>G	NM_004646.4	NP_004637.1:p.(Lys430Arg)	NC_000019.9:g.36339181T>C	(Likely) benign	1 lab	1a47ec3afe
13:108861809 LIG4 C>T	13	108861809	108861809	C	T	LIG4	c.1808G>A	NM_206937.2	NP_996820.1:p.(Arg603Lys)	NC_000013.10:g.108861809C>T	VUS	1 lab	1a481237f0
6:87966889 ZNF292 C>T	6	87966889	87966889	C	T	ZNF292	c.3542C>T	NM_015021.3	NP_055836.1:p.(Ser1181Leu)	NC_000006.11:g.87966889C>T	(Likely) benign	1 lab	1a48d00529
13:108863324 LIG4 T>C	13	108863324	108863324	T	C	LIG4	c.293A>G	NM_206937.2	NP_996820.1:p.(Asn98Ser)	NC_000013.10:g.108863324T>C	VUS	1 lab	1a4a2509b9
4:126337744 FAT4 C>T	4	126337744	126337744	C	T	FAT4	c.6985C>T	NM_001291303.3	NP_001278232.1:p.(Arg2329Cys)	NC_000004.11:g.126337744C>T	VUS	1 lab	1afe3504e6
X:21874934 MBTPS2 T>C	X	21874934	21874934	T	C	MBTPS2	c.670+3313T>C	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21874934T>C	VUS	1 lab	1a4c305f7b
1:100349757 AGL A>G	1	100349757	100349757	A	G	AGL	c.2390A>G	NM_000642.3	NP_000633.2:p.(Asn797Ser)	NC_000001.10:g.100349757A>G	(Likely) benign	1 lab	1a4c8f8f60
13:39452993 FREM2 C>T	13	39452993	39452993	C	T	FREM2	c.8885C>T	NM_207361.6	NP_997244.4:p.(Ala2962Val)	NC_000013.10:g.39452993C>T	(Likely) benign	1 lab	1a4d180a7f
14:94039053 UNC79 T>C	14	94039053	94039053	T	C	UNC79	c.1961T>C	NM_001395159.1	NP_001382088.1:p.(Ile654Thr)	NC_000014.8:g.94039053T>C	(Likely) benign	1 lab	1a4de00858
X:153589711 FLNA G>A	X	153589711	153589711	G	A	FLNA	c.3172C>T	NM_001110556.2	NP_001104026.1:p.(Pro1058Ser)	NC_000023.10:g.153589711G>A	VUS	1 lab	1a51fab11a
6:42937706 PEX6 T>G	6	42937706	42937706	T	G	PEX6	c.1150A>C	NM_000287.4	NP_000278.3:p.(Lys384Gln)	NC_000006.11:g.42937706T>G	VUS	1 lab	1a5661e2e6
8:41574566 ANK1 C>G	8	41574566	41574566	C	G	ANK1	c.1309G>C	NM_000037.4	NP_000028.3:p.(Val437Leu)	NC_000008.10:g.41574566C>G	VUS	1 lab	1a56d10636
4:155508067 FGA C>T	4	155508067	155508067	C	T	FGA	c.514G>A	NM_021871.4	NP_068657.1:p.(Asp172Asn)	NC_000004.11:g.155508067C>T	VUS	1 lab	1afec06825
5:160973705 GABRB2 G>C	5	160973705	160973705	G	C	GABRB2	c.-56C>G	NM_001371727.1	NP_001358656.1:p.?	NC_000005.9:g.160973705G>C	VUS	1 lab	1a5868a27f
17:73895743 MRPL38 C>T	17	73895743	73895743	C	T	MRPL38	c.723G>A	NM_032478.4	NP_115867.2:p.(Pro241=)	NC_000017.10:g.73895743C>T	(Likely) benign	1 lab	1a58af0a14
10:103900766 PPRC1 C>G	10	103900766	103900766	C	G	PPRC1	c.2501C>G	NM_015062.5	NP_055877.3:p.(Pro834Arg)	NC_000010.10:g.103900766C>G	(Likely) benign	1 lab	1a59afc94d
11:17177174 PIK3C2A T>C	11	17177174	17177174	T	C	PIK3C2A	c.1068A>G	NM_002645.4	NP_002636.2:p.(Lys356=)	NC_000011.9:g.17177174T>C	(Likely) benign	1 lab	1a59b1e4ce
7:92733645 SAMD9 A>G	7	92733645	92733645	A	G	SAMD9	c.1766T>C	NM_017654.4	NP_060124.2:p.(Leu589Pro)	NC_000007.13:g.92733645A>G	VUS	1 lab	1a5b098d2c
1:12034762 PLOD1 A>AG	1	12034762	12034765	A	AG	PLOD1	c.2084dup	NM_000302.4	NP_000293.2:p.(Trp696LeufsTer14)	NC_000001.10:g.12034765dup	(Likely) pathogenic	1 lab	1a5c69c72c
17:7671259 DNAH2 C>A	17	7671259	7671259	C	A	DNAH2	c.3717C>A	NM_020877.5	NP_065928.2:p.(Asp1239Glu)	NC_000017.10:g.7671259C>A	(Likely) benign	1 lab	1a5d5fa0e3
2:84658754 SUCLG1 C>G	2	84658754	84658754	C	G	SUCLG1	c.703G>C	NM_003849.4	NP_003840.2:p.(Asp235His)	NC_000002.11:g.84658754C>G	VUS	1 lab	1a5e5e629a
16:69922007 WWP2 C>T	16	69922007	69922007	C	T	WWP2	c.769C>T	NM_001270454.2	NP_001257383.1:p.(Pro257Ser)	NC_000016.9:g.69922007C>T	VUS	1 lab	1a60d417eb
1:228554764 OBSCN C>T	1	228554764	228554764	C	T	OBSCN	c.22387C>T	NM_001386125.1	NP_001373054.1:p.(Arg7463Trp)	NC_000001.10:g.228554764C>T	(Likely) benign	1 lab	1a611e777d
5:90016771 ADGRV1 G>A	5	90016771	90016771	G	A	ADGRV1	c.9643G>A	NM_032119.4	NP_115495.3:p.(Glu3215Lys)	NC_000005.9:g.90016771G>A	(Likely) benign	1 lab	1a62f80f0b
2:175676241 CHN1 C>G	2	175676241	175676241	C	G	CHN1	c.962G>C	NM_001822.7	NP_001813.1:p.(Arg321Thr)	NC_000002.11:g.175676241C>G	(Likely) benign	1 lab	1a66c6b5ce
15:90196125 KIF7 C>T	15	90196125	90196125	C	T	KIF7	c.37G>A	NM_198525.3	NP_940927.2:p.(Glu13Lys)	NC_000015.9:g.90196125C>T	(Likely) benign	1 lab	1a67678db0
2:48132660 FBXO11 A>AGCGGCGGAG	2	48132660	48132676	A	AGCGGCGGAG	FBXO11	c.191_199dup	NM_001190274.2	NP_001177203.1:p.(Pro64_Pro66dup)	NC_000002.11:g.48132668_48132676dup	VUS	1 lab	1a67eeb1f9
19:39963964 SUPT5H C>T	19	39963964	39963964	C	T	SUPT5H	c.2380C>T	NM_001111020.3	NP_001104490.1:p.(Gln794Ter)	NC_000019.9:g.39963964C>T	(Likely) pathogenic	1 lab	1a687ac080
1:152278770 FLG A>C	1	152278770	152278770	A	C	FLG	c.8592T>G	NM_002016.2	NP_002007.1:p.(His2864Gln)	NC_000001.10:g.152278770A>C	(Likely) benign	1 lab	1a6a1f4d48
6:170594343 DLL1 G>A	6	170594343	170594343	G	A	DLL1	c.1031C>T	NM_005618.4	NP_005609.3:p.(Thr344Met)	NC_000006.11:g.170594343G>A	(Likely) benign	1 lab	1a6ae3e670
11:134127135 ACAD8 TATATAA>T	11	134127135	134127141	TATATAA	T	ACAD8	c.365_370del	NM_014384.3	NP_055199.1:p.(Tyr122_Ser124delinsCys)	NC_000011.9:g.134127136_134127141del	VUS	1 lab	1a6bde11b4
8:145732307 GPT C>T	8	145732307	145732307	C	T	GPT	c.1415C>T	NM_005309.3	NP_005300.1:p.(Pro472Leu)	NC_000008.10:g.145732307C>T	VUS	1 lab	1a6ddfd413
X:138643811 F9 G>A	X	138643811	138643811	G	A	F9	c.967G>A	NM_000133.4	NP_000124.1:p.(Glu323Lys)	NC_000023.10:g.138643811G>A	(Likely) benign	1 lab	1a6f76dd5a
X:43661498 MAOB C>T	X	43661498	43661498	C	T	MAOB	c.397G>A	NM_000898.5	NP_000889.3:p.(Ala133Thr)	NC_000023.10:g.43661498C>T	VUS	1 lab	1a70df863e
16:1634209 IFT140 G>A	16	1634209	1634209	G	A	IFT140	c.1359+9C>T	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1634209G>A	(Likely) benign	1 lab	1a70ff0e7d
5:180053195 FLT4 C>T	5	180053195	180053195	C	T	FLT4	c.1174G>A	NM_182925.5	NP_891555.2:p.(Ala392Thr)	NC_000005.9:g.180053195C>T	VUS	1 lab	1a71c17d90
5:1088472 SLC12A7 T>C	5	1088472	1088472	T	C	SLC12A7	c.493A>G	NM_006598.3	NP_006589.2:p.(Met165Val)	NC_000005.9:g.1088472T>C	(Likely) benign	1 lab	1a7281ed1d
6:75825628 COL12A1 C>T	6	75825628	75825628	C	T	COL12A1	c.7569G>A	NM_004370.6	NP_004361.3:p.(Met2523Ile)	NC_000006.11:g.75825628C>T	VUS	1 lab	1a749527a1
4:57397226 SPMAP2L C>T	4	57397226	57397226	C	T	SPMAP2L	c.384C>T	NM_001256475.2	NP_001243404.1:p.(Arg128=)	NC_000004.11:g.57397226C>T	VUS	1 lab	1a74bd6723
14:23870000 MYH6 C>T	14	23870000	23870000	C	T	MYH6	c.1328G>A	NM_002471.4	NP_002462.2:p.(Arg443His)	NC_000014.8:g.23870000C>T	VUS	1 lab	1a74cafcbe
16:2158255 PKD1 G>A	16	2158255	2158255	G	A	PKD1	c.6913C>T	NM_001009944.3	NP_001009944.3:p.(Gln2305Ter)	NC_000016.9:g.2158255G>A	(Likely) pathogenic	1 lab	1a74d11c5c
15:91496230 UNC45A G>A	15	91496230	91496230	G	A	UNC45A	c.2375G>A	NM_018671.5	NP_061141.2:p.(Arg792His)	NC_000015.9:g.91496230G>A	VUS	1 lab	1a74feae89
14:30103628 PRKD1 G>A	14	30103628	30103628	G	A	PRKD1	c.1310C>T	NM_002742.3	NP_002733.2:p.(Thr437Met)	NC_000014.8:g.30103628G>A	(Likely) benign	1 lab	1a75bf7658
8:144994460 PLEC C>T	8	144994460	144994460	C	T	PLEC	c.9529G>A	NM_201384.3	NP_958786.1:p.(Asp3177Asn)	NC_000008.10:g.144994460C>T	VUS	1 lab	1a75ee8c4e
1:248129415 OR2AK2 TTG>T	1	248129415	248129419	TTG	T	OR2AK2	c.740_741del	NM_001004491.2	NP_001004491.2:p.(Val247GlyfsTer25)	NC_000001.10:g.248129418_248129419del	(Likely) benign	1 lab	1a760dea29
12:48375937 COL2A1 C>T	12	48375937	48375937	C	T	COL2A1	c.2308G>A	NM_001844.5	NP_001835.3:p.(Val770Ile)	NC_000012.11:g.48375937C>T	VUS	1 lab	1a77b3e3d9
4:56874545 CEP135 T>C	4	56874545	56874545	T	C	CEP135	c.2333T>C	NM_025009.5	NP_079285.2:p.(Val778Ala)	NC_000004.11:g.56874545T>C	(Likely) benign	1 lab	1a77e2142d
10:115405588 NRAP C>G	10	115405588	115405588	C	G	NRAP	c.1106G>C	NM_198060.4	NP_932326.2:p.(Ser369Thr)	NC_000010.10:g.115405588C>G	VUS	1 lab	1a7aaca117
2:241535922 CAPN10 G>A	2	241535922	241535922	G	A	CAPN10	c.1465G>A	NM_023083.4	NP_075571.2:p.(Gly489Arg)	NC_000002.11:g.241535922G>A	VUS	1 lab	1a7afe370f
14:105781379 PACS2 G>C	14	105781379	105781379	G	C	PACS2	c.119+5G>C	NM_001100913.3	NP_001094383.2:p.?	NC_000014.8:g.105781379G>C	VUS	1 lab	1a7b2c2586
20:62707234 RGS19 CTTTCT>C	20	62707234	62707242	CTTTCT	C	RGS19	c.152+639_152+643del	NM_005873.3	NP_005864.1:p.?	NC_000020.10:g.62707238_62707242del	VUS	1 lab	1a7b56f649
7:103234872 RELN C>T	7	103234872	103234872	C	T	RELN	c.3607G>A	NM_005045.4	NP_005036.2:p.(Val1203Met)	NC_000007.13:g.103234872C>T	VUS	1 lab	1a7bb57f73
19:5896584 NDUFA11 C>T	19	5896584	5896584	C	T	NDUFA11	c.193G>A	NM_175614.5	NP_783313.1:p.(Ala65Thr)	NC_000019.9:g.5896584C>T	VUS	1 lab	1a7c0f1574
2:48026895 MSH6 A>G	2	48026895	48026895	A	G	MSH6	c.1773A>G	NM_000179.3	NP_000170.1:p.(Pro591=)	NC_000002.11:g.48026895A>G	VUS	1 lab	1a7edfcbce
6:144033167 PHACTR2 A>C	6	144033167	144033167	A	C	PHACTR2	c.61A>C	NM_001100164.2	NP_001093634.1:p.(Lys21Gln)	NC_000006.11:g.144033167A>C	VUS	1 lab	1a7f0d3b00
X:120006600 CT47B1 A>G	X	120006600	120006600	A	G	CT47B1	c.*32-6T>C	NM_001145718.3	NP_001139190.1:p.?	NC_000023.10:g.120006600A>G	(Likely) benign	1 lab	1a7f83dfc4
9:135946874 CEL C>T	9	135946874	135946874	C	T	CEL	c.1985C>T	NM_001807.6	NP_001798.3:p.(Thr662Met)	NC_000009.11:g.135946874C>T	(Likely) benign	1 lab	1a831dfd6a
19:47105468 CALM3 G>T	19	47105468	47105468	G	T	CALM3	c.3+774G>T	NM_005184.4	NP_005175.2:p.?	NC_000019.9:g.47105468G>T	(Likely) benign	1 lab	1a83d5e287
16:88783064 PIEZO1 G>T	16	88783064	88783064	G	T	PIEZO1	c.6829C>A	NM_001142864.4	NP_001136336.2:p.(Leu2277Met)	NC_000016.9:g.88783064G>T	(Likely) benign	1 lab	1a83d79aee
X:153995316 DKC1 G>A	X	153995316	153995316	G	A	DKC1	c.493G>A	NM_001363.5	NP_001354.1:p.(Gly165Arg)	NC_000023.10:g.153995316G>A	VUS	1 lab	1a8450f1bd
7:48317682 ABCA13 TA>T	7	48317682	48317683	TA	T	ABCA13	c.6900-8del	NM_152701.5	NP_689914.3:p.?	NC_000007.13:g.48317683del	(Likely) benign	1 lab	1a84ab3420
12:85492255 LRRIQ1 A>G	12	85492255	85492255	A	G	LRRIQ1	c.3010A>G	NM_001079910.2	NP_001073379.1:p.(Thr1004Ala)	NC_000012.11:g.85492255A>G	(Likely) benign	1 lab	1a84afc22a
15:58006854 POLR2M G>A	15	58006854	58006854	G	A	POLR2M	c.1084G>A	NM_015532.5	NP_056347.1:p.(Asp362Asn)	NC_000015.9:g.58006854G>A	(Likely) benign	1 lab	1a854a1db0
15:89390619 ACAN C>G	15	89390619	89390619	C	G	ACAN	c.1575C>G	NM_001369268.1	NP_001356197.1:p.(Asp525Glu)	NC_000015.9:g.89390619C>G	VUS	1 lab	1a892d9f1e
6:56458969 DST G>A	6	56458969	56458969	G	A	DST	c.12218C>T	NM_001374736.1	NP_001361665.1:p.(Ser4073Phe)	NC_000006.11:g.56458969G>A	VUS	1 lab	1a8a475599
19:54304599 NLRP12 G>C	19	54304599	54304599	G	C	NLRP12	c.2638C>G	NM_144687.4	NP_653288.1:p.(Leu880Val)	NC_000019.9:g.54304599G>C	VUS	1 lab	1a8a832871
7:150761355 SLC4A2 C>T	7	150761355	150761355	C	T	SLC4A2	c.118C>T	NM_003040.4	NP_003031.3:p.(Arg40Cys)	NC_000007.13:g.150761355C>T	VUS	1 lab	1a8c2a2333
11:113078586 NCAM1 G>A	11	113078586	113078586	G	A	NCAM1	c.778G>A	NM_181351.5	NP_851996.2:p.(Asp260Asn)	NC_000011.9:g.113078586G>A	(Likely) benign	1 lab	1a8cded6da
19:38976531 RYR1 C>T	19	38976531	38976531	C	T	RYR1	c.5236C>T	NM_000540.3	NP_000531.2:p.(Leu1746Phe)	NC_000019.9:g.38976531C>T	VUS	1 lab	1a8d3bda65
3:18391136 SATB1 C>A	3	18391136	18391136	C	A	SATB1	c.1818G>T	NM_002971.6	NP_002962.1:p.(Gln606His)	NC_000003.11:g.18391136C>A	VUS	1 lab	1a8e193c10
1:160062813 IGSF8 G>A	1	160062813	160062813	G	A	IGSF8	c.1213C>T	NM_052868.6	NP_443100.1:p.(Arg405Cys)	NC_000001.10:g.160062813G>A	VUS	1 lab	1a90bc724c
5:180057729 FLT4 C>T	5	180057729	180057729	C	T	FLT4	c.226G>A	NM_182925.5	NP_891555.2:p.(Glu76Lys)	NC_000005.9:g.180057729C>T	(Likely) benign	1 lab	1a91461ae0
19:42858176 MEGF8 G>A	19	42858176	42858176	G	A	MEGF8	c.4011G>A	NM_001271938.2	NP_001258867.1:p.(Thr1337=)	NC_000019.9:g.42858176G>A	VUS	1 lab	1a914d8672
22:29092899 CHEK2 C>CAA	22	29092899	29092901	C	CAA	CHEK2	c.1084_1085insTT	NM_007194.4	NP_009125.1:p.(Cys362PhefsTer4)	NC_000022.10:g.29092900_29092901insAA	(Likely) pathogenic	1 lab	1a922b51e0
12:27799028 PPFIBP1 T>C	12	27799028	27799028	T	C	PPFIBP1	c.304T>C	NM_003622.4	NP_003613.4:p.(Tyr102His)	NC_000012.11:g.27799028T>C	VUS	1 lab	1a9298744e
8:22012951 LGI3 C>G	8	22012951	22012951	C	G	LGI3	c.232G>C	NM_139278.4	NP_644807.1:p.(Glu78Gln)	NC_000008.10:g.22012951C>G	VUS	1 lab	1a9522cd59
1:144868170 PDE4DIP C>T	1	144868170	144868170	C	T	PDE4DIP	c.5467G>A	NM_001395426.1	NP_001382355.1:p.(Ala1823Thr)	NC_000001.10:g.144868170C>T	VUS	1 lab	1a953b04b1
9:72962963 SMC5 G>A	9	72962963	72962963	G	A	SMC5	c.2889+9G>A	NM_015110.4	NP_055925.2:p.?	NC_000009.11:g.72962963G>A	(Likely) benign	1 lab	1a962ec4eb
10:28849254 WAC T>C	10	28849254	28849254	T	C	WAC	c.275-23074T>C	NM_016628.5	NP_057712.2:p.?	NC_000010.10:g.28849254T>C	(Likely) benign	1 lab	1a96817015
2:241662040 KIF1A C>G	2	241662040	241662040	C	G	KIF1A	c.4498G>C	NM_001244008.2	NP_001230937.1:p.(Glu1500Gln)	NC_000002.11:g.241662040C>G	VUS	1 lab	1a9b261093
14:105421009 AHNAK2 G>A	14	105421009	105421009	G	A	AHNAK2	c.779C>T	NM_138420.4	NP_612429.2:p.(Ser260Phe)	NC_000014.8:g.105421009G>A	VUS	1 lab	1a9b6f2b48
9:2161713 SMARCA2 A>G	9	2161713	2161713	A	G	SMARCA2	c.4009A>G	NM_003070.5	NP_003061.3:p.(Met1337Val)	NC_000009.11:g.2161713A>G	VUS	1 lab	1a9bb8ce04
X:129200839 ELF4 G>C	X	129200839	129200839	G	C	ELF4	c.1849C>G	NM_001421.4	NP_001412.1:p.(Leu617Val)	NC_000023.10:g.129200839G>C	VUS	1 lab	1a9c246542
10:88469826 LDB3 G>A	10	88469826	88469826	G	A	LDB3	c.1246+19G>A	NM_001171610.2	NP_001165081.1:p.?	NC_000010.10:g.88469826G>A	(Likely) benign	1 lab	1b15682168
18:2688447 SMCHD1 A>G	18	2688447	2688447	A	G	SMCHD1	c.694A>G	NM_015295.3	NP_056110.2:p.(Ile232Val)	NC_000018.9:g.2688447A>G	VUS	1 lab	1aa1c4ffe9
10:28971325 BAMBI G>A	10	28971325	28971325	G	A	BAMBI	c.778G>A	NM_012342.3	NP_036474.1:p.(Val260Ile)	NC_000010.10:g.28971325G>A	(Likely) benign	1 lab	1aa22964b5
14:105614123 JAG2 C>T	14	105614123	105614123	C	T	JAG2	c.2351G>A	NM_002226.5	NP_002217.3:p.(Arg784His)	NC_000014.8:g.105614123C>T	VUS	1 lab	1aa4706841
13:33591272 KL A>C	13	33591272	33591272	A	C	KL	c.694A>C	NM_004795.4	NP_004786.2:p.(Lys232Gln)	NC_000013.10:g.33591272A>C	VUS	1 lab	1aa4e846f9
2:166909391 SCN1A C>T	2	166909391	166909391	C	T	SCN1A	c.665G>A	NM_001165963.4	NP_001159435.1:p.(Arg222Gln)	NC_000002.11:g.166909391C>T	VUS	1 lab	1aa71ee452
20:60985942 RBBP8NL C>T	20	60985942	60985942	C	T	RBBP8NL	c.1987G>A	NM_080833.3	NP_543023.2:p.(Glu663Lys)	NC_000020.10:g.60985942C>T	(Likely) benign	1 lab	1aa741e5d1
16:3293445 MEFV G>A	16	3293445	3293445	G	A	MEFV	c.2042C>T	NM_000243.2	NP_000234.1:p.(Thr681Ile)	NC_000016.9:g.3293445G>A	(Likely) pathogenic	1 lab	1b1d583caa
10:74923538 ECD T>C	10	74923538	74923538	T	C	ECD	c.158A>G	NM_007265.3	NP_009196.1:p.(Tyr53Cys)	NC_000010.10:g.74923538T>C	(Likely) benign	1 lab	1aa91a1e74
X:152988966 BCAP31 C>T	X	152988966	152988966	C	T	BCAP31	c.-44-223G>A	NM_001256447.2	NP_001243376.1:p.?	NC_000023.10:g.152988966C>T	VUS	1 lab	1aa9ee8942
5:7867477 FASTKD3 TATA>T	5	7867477	7867482	TATA	T	FASTKD3	c.717_719del	NM_024091.4	NP_076996.2:p.(Ile240del)	NC_000005.9:g.7867480_7867482del	(Likely) benign	1 lab	1aab44b3b3
16:90106721 DRC4 G>A	16	90106721	90106721	G	A	DRC4	c.1025G>A	NM_001481.3	NP_001472.1:p.(Arg342Gln)	NC_000016.9:g.90106721G>A	VUS	1 lab	1aaba2b607
X:16168555 GRPR C>T	X	16168555	16168555	C	T	GRPR	c.541C>T	NM_005314.3	NP_005305.1:p.(Leu181Phe)	NC_000023.10:g.16168555C>T	VUS	1 lab	1aac2e5874
X:103268024 H2BW1 C>T	X	103268024	103268024	C	T	H2BW1	c.125G>A	NM_001002916.5	NP_001002916.4:p.(Arg42His)	NC_000023.10:g.103268024C>T	(Likely) benign	1 lab	1aad460a52
18:57122078 CCBE1 C>T	18	57122078	57122078	C	T	CCBE1	c.654+5G>A	NM_133459.4	NP_597716.1:p.?	NC_000018.9:g.57122078C>T	(Likely) benign	1 lab	1aadb052eb
4:103790301 CISD2 G>C	4	103790301	103790301	G	C	CISD2	c.60G>C	NM_001008388.5	NP_001008389.1:p.(Arg20=)	NC_000004.11:g.103790301G>C	(Likely) benign	1 lab	1aaef3f1bc
12:121222355 SPPL3 T>C	12	121222355	121222355	T	C	SPPL3	c.232A>G	NM_139015.5	NP_620584.2:p.(Ile78Val)	NC_000012.11:g.121222355T>C	VUS	1 lab	1ab020ca12
1:24989158 SRRM1 C>T	1	24989158	24989158	C	T	SRRM1	c.1491C>T	NM_005839.4	NP_005830.2:p.(Gly497=)	NC_000001.10:g.24989158C>T	(Likely) benign	1 lab	1ab27540ff
16:2287501 DNASE1L2 T>C	16	2287501	2287501	T	C	DNASE1L2	c.442T>C	NM_001374.3	NP_001365.1:p.(Ser148Pro)	NC_000016.9:g.2287501T>C	(Likely) benign	1 lab	1ab3d91c37
7:122765666 SLC13A1 G>A	7	122765666	122765666	G	A	SLC13A1	c.1197C>T	NM_022444.4	NP_071889.2:p.(Ile399=)	NC_000007.13:g.122765666G>A	VUS	1 lab	1ab3fdc63a
15:89392865 ACAN C>T	15	89392865	89392865	C	T	ACAN	c.1929C>T	NM_001369268.1	NP_001356197.1:p.(Cys643=)	NC_000015.9:g.89392865C>T	(Likely) benign	1 lab	1ab4475b10
12:112036773 ATXN2 C>CTGCTGT	12	112036773	112036779	C	CTGCTGT	ATXN2	c.65_66insACAGCA	NM_001372574.1	NP_001359503.1:p.(Gln27_Gln28dup)	NC_000012.11:g.112036778_112036779insTTGCTG	(Likely) benign	1 lab	1ab5e2e383
X:150840738 PASD1 G>C	X	150840738	150840738	G	C	PASD1	c.1521G>C	NM_173493.3	NP_775764.2:p.(Arg507Ser)	NC_000023.10:g.150840738G>C	(Likely) benign	1 lab	1ab73d5c9c
3:178947140 PIK3CA A>G	3	178947140	178947140	A	G	PIK3CA	c.2576A>G	NM_006218.4	NP_006209.2:p.(Gln859Arg)	NC_000003.11:g.178947140A>G	VUS	1 lab	1ab76b5a15
3:4704893 ITPR1 C>T	3	4704893	4704893	C	T	ITPR1	c.1554+3C>T	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4704893C>T	(Likely) benign	1 lab	1ab77de281
6:143780320 PEX3 T>G	6	143780320	143780320	T	G	PEX3	c.172T>G	NM_003630.3	NP_003621.1:p.(Phe58Val)	NC_000006.11:g.143780320T>G	VUS	1 lab	1ab81fc868
19:6753533 SH2D3A G>A	19	6753533	6753533	G	A	SH2D3A	c.1504C>T	NM_005490.3	NP_005481.2:p.(His502Tyr)	NC_000019.9:g.6753533G>A	VUS	1 lab	1ab94f67a9
2:73118533 SPR T>C	2	73118533	73118533	T	C	SPR	c.653T>C	NM_003124.5	NP_003115.1:p.(Met218Thr)	NC_000002.11:g.73118533T>C	(Likely) benign	1 lab	1aba9a067d
4:57796639 REST T>C	4	57796639	57796639	T	C	REST	c.1615T>C	NM_005612.5	NP_005603.3:p.(Ser539Pro)	NC_000004.11:g.57796639T>C	(Likely) benign	1 lab	1abc6c64f9
14:75516263 MLH3 G>A	14	75516263	75516263	G	A	MLH3	c.96C>T	NM_001040108.2	NP_001035197.1:p.(Asn32=)	NC_000014.8:g.75516263G>A	(Likely) benign	1 lab	1abe35f7c6
14:75509125 MLH3 C>T	14	75509125	75509125	C	T	MLH3	c.3336G>A	NM_001040108.2	NP_001035197.1:p.(Pro1112=)	NC_000014.8:g.75509125C>T	VUS	1 lab	1abe5faf97
4:48533163 FRYL A>G	4	48533163	48533163	A	G	FRYL	c.6903+10T>C	NM_015030.2	NP_055845.1:p.?	NC_000004.11:g.48533163A>G	(Likely) benign	1 lab	1abe825c1b
1:92712203 GLMN C>G	1	92712203	92712203	C	G	GLMN	c.1669G>C	NM_053274.3	NP_444504.1:p.(Val557Leu)	NC_000001.10:g.92712203C>G	VUS	1 lab	1abe95644b
12:22214260 CMAS G>T	12	22214260	22214260	G	T	CMAS	c.834G>T	NM_018686.6	NP_061156.1:p.(Leu278Phe)	NC_000012.11:g.22214260G>T	VUS	1 lab	1abeb45baa
8:144621008 ZC3H3 T>C	8	144621008	144621008	T	C	ZC3H3	c.529A>G	NM_015117.3	NP_055932.2:p.(Thr177Ala)	NC_000008.10:g.144621008T>C	(Likely) benign	1 lab	1abf726bbf
16:30750879 SRCAP A>G	16	30750879	30750879	A	G	SRCAP	c.9518A>G	NM_006662.3	NP_006653.2:p.(Glu3173Gly)	NC_000016.9:g.30750879A>G	(Likely) benign	1 lab	1abf9e7718
6:155504487 TIAM2 C>T	6	155504487	155504487	C	T	TIAM2	c.2917C>T	NM_012454.4	NP_036586.3:p.(Arg973Trp)	NC_000006.11:g.155504487C>T	VUS	1 lab	1ac06ca0df
9:136384124 MYMK G>T	9	136384124	136384124	G	T	MYMK	c.271C>A	NM_001080483.3	NP_001073952.1:p.(Pro91Thr)	NC_000009.11:g.136384124G>T	(Likely) pathogenic	1 lab	1ac09de0e5
1:158632543 SPTA1 C>T	1	158632543	158632543	C	T	SPTA1	c.2413G>A	NM_003126.4	NP_003117.2:p.(Glu805Lys)	NC_000001.10:g.158632543C>T	VUS	1 lab	1ac0d3ce7f
5:218541 SDHA C>T	5	218541	218541	C	T	SDHA	c.63+8C>T	NM_004168.4	NP_004159.2:p.?	NC_000005.9:g.218541C>T	(Likely) benign	1 lab	1ac0ea9ef7
3:58129242 FLNB T>C	3	58129242	58129242	T	C	FLNB	c.5327T>C	NM_001457.4	NP_001448.2:p.(Ile1776Thr)	NC_000003.11:g.58129242T>C	VUS	1 lab	1ac1196156
1:228346060 GJC2 C>T	1	228346060	228346060	C	T	GJC2	c.601C>T	NM_020435.4	NP_065168.2:p.(Arg201Trp)	NC_000001.10:g.228346060C>T	VUS	1 lab	1ac4ca345e
6:170175446 ERMARD C>T	6	170175446	170175446	C	T	ERMARD	c.1394+4C>T	NM_018341.3	NP_060811.1:p.?	NC_000006.11:g.170175446C>T	(Likely) benign	1 lab	1ac5470d11
5:60834730 ZSWIM6 G>C	5	60834730	60834730	G	C	ZSWIM6	c.2471G>C	NM_020928.2	NP_065979.1:p.(Trp824Ser)	NC_000005.9:g.60834730G>C	VUS	1 lab	1ac75f9f5a
1:220162101 EPRS1 C>A	1	220162101	220162101	C	A	EPRS1	c.2606G>T	NM_004446.3	NP_004437.2:p.(Gly869Val)	NC_000001.10:g.220162101C>A	VUS	1 lab	1ac7833922
6:35426223 FANCE T>C	6	35426223	35426223	T	C	FANCE	c.1113+6T>C	NM_021922.3	NP_068741.1:p.?	NC_000006.11:g.35426223T>C	VUS	1 lab	1ac7b3938e
19:48945165 GRIN2D C>G	19	48945165	48945165	C	G	GRIN2D	c.2392C>G	NM_000836.4	NP_000827.2:p.(Arg798Gly)	NC_000019.9:g.48945165C>G	VUS	1 lab	1ac8a68072
17:10542470 MYH3 C>T	17	10542470	10542470	C	T	MYH3	c.3139G>A	NM_002470.4	NP_002461.2:p.(Val1047Ile)	NC_000017.10:g.10542470C>T	VUS	1 lab	1ac917ff43
11:2182036 INS G>A	11	2182036	2182036	G	A	INS	c.166C>T	NM_000207.3	NP_000198.1:p.(Arg56Trp)	NC_000011.9:g.2182036G>A	VUS	1 lab	1ac9887779
3:33174118 CRTAP C>G	3	33174118	33174118	C	G	CRTAP	c.994C>G	NM_006371.5	NP_006362.1:p.(Gln332Glu)	NC_000003.11:g.33174118C>G	(Likely) benign	1 lab	1acbdd9110
3:46944161 PTH1R C>T	3	46944161	46944161	C	T	PTH1R	c.1353+4C>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46944161C>T	(Likely) benign	1 lab	1acd13bdb1
14:33292169 AKAP6 C>T	14	33292169	33292169	C	T	AKAP6	c.5150C>T	NM_004274.5	NP_004265.3:p.(Ser1717Leu)	NC_000014.8:g.33292169C>T	(Likely) benign	1 lab	1acfa877a0
18:72999068 TSHZ1 G>C	18	72999068	72999068	G	C	TSHZ1	c.1706G>C	NM_001308210.2	NP_001295139.1:p.(Gly569Ala)	NC_000018.9:g.72999068G>C	VUS	1 lab	1ad159e4fa
15:57535682 TCF12 G>A	15	57535682	57535682	G	A	TCF12	c.1048G>A	NM_207037.2	NP_996920.1:p.(Asp350Asn)	NC_000015.9:g.57535682G>A	VUS	1 lab	1ad246bcdb
17:79990880 RAC3 G>A	17	79990880	79990880	G	A	RAC3	c.283G>A	NM_005052.3	NP_005043.1:p.(Ala95Thr)	NC_000017.10:g.79990880G>A	VUS	1 lab	1ad61115e7
12:57111063 NACA TGCTGGA>T	12	57111063	57111071	TGCTGGA	T	NACA	c.4245_4250del	NM_001365896.1	NP_001352825.1:p.(Pro1416_Ala1417del)	NC_000012.11:g.57111066_57111071del	VUS	1 lab	1ad643a703
5:127627247 FBN2 A>G	5	127627247	127627247	A	G	FBN2	c.6266T>C	NM_001999.4	NP_001990.2:p.(Leu2089Pro)	NC_000005.9:g.127627247A>G	VUS	1 lab	1ad6bcb37a
9:406953 DOCK8 C>A	9	406953	406953	C	A	DOCK8	c.3414C>A	NM_203447.4	NP_982272.2:p.(Phe1138Leu)	NC_000009.11:g.406953C>A	(Likely) benign	1 lab	1ad93a3a8f
9:135946950 CEL C>T	9	135946950	135946950	C	T	CEL	c.2061C>T	NM_001807.6	NP_001798.3:p.(Ser687=)	NC_000009.11:g.135946950C>T	(Likely) benign	1 lab	1ad9bb200e
8:103250992 RRM2B A>G	8	103250992	103250992	A	G	RRM2B	c.48+63T>C	NM_015713.5	NP_056528.2:p.?	NC_000008.10:g.103250992A>G	VUS	1 lab	1ad9c33279
6:41545740 FOXP4 G>A	6	41545740	41545740	G	A	FOXP4	c.221G>A	NM_001012426.2	NP_001012426.1:p.(Arg74Gln)	NC_000006.11:g.41545740G>A	VUS	1 lab	1adc4160a2
12:51751178 GALNT6 C>A	12	51751178	51751178	C	A	GALNT6	c.1557G>T	NM_007210.4	NP_009141.2:p.(Gly519=)	NC_000012.11:g.51751178C>A	VUS	1 lab	1add0639e3
20:3781740 CDC25B G>A	20	3781740	3781740	G	A	CDC25B	c.705G>A	NM_021873.4	NP_068659.1:p.(Met235Ile)	NC_000020.10:g.3781740G>A	VUS	1 lab	1add5188d9
16:89251587 CDH15 A>T	16	89251587	89251587	A	T	CDH15	c.509A>T	NM_004933.3	NP_004924.1:p.(Tyr170Phe)	NC_000016.9:g.89251587A>T	(Likely) benign	1 lab	1add939190
15:99251032 IGF1R C>G	15	99251032	99251032	C	G	IGF1R	c.336C>G	NM_000875.5	NP_000866.1:p.(Phe112Leu)	NC_000015.9:g.99251032C>G	VUS	1 lab	1addb79513
10:5803348 TASOR2 GATC>G	10	5803348	5803355	GATC	G	TASOR2	c.7093_7095del	NM_001321783.2	NP_001308712.2:p.(Ser2365del)	NC_000010.10:g.5803353_5803355del	VUS	1 lab	1ade69d354
19:7293862 INSR A>AGGG	19	7293862	7293864	A	AGGG	INSR	c.40_41insCCC	NM_000208.4	NP_000199.2:p.(Pro13dup)	NC_000019.9:g.7293863_7293864insGGG	(Likely) benign	1 lab	1ae0c69834
11:17438482 ABCC8 G>T	11	17438482	17438482	G	T	ABCC8	c.2250C>A	NM_000352.6	NP_000343.2:p.(Asp750Glu)	NC_000011.9:g.17438482G>T	(Likely) benign	1 lab	1ae0fd94f5
16:2156116 PKD1 C>A	16	2156116	2156116	C	A	PKD1	c.7679G>T	NM_001009944.3	NP_001009944.3:p.(Gly2560Val)	NC_000016.9:g.2156116C>A	VUS	1 lab	1ae17a4af5
4:166981190 TLL1 TG>T	4	166981190	166981192	TG	T	TLL1	c.1859del	NM_012464.5	NP_036596.3:p.(Gly620AspfsTer10)	NC_000004.11:g.166981192del	VUS	1 lab	1ae18d903d
2:61647966 USP34 A>T	2	61647966	61647966	A	T	USP34	c.46T>A	NM_014709.4	NP_055524.3:p.(Ser16Thr)	NC_000002.11:g.61647966A>T	VUS	1 lab	1ae2017b93
15:28947352 GOLGA8M G>C	15	28947352	28947352	G	C	GOLGA8M	c.1723+8C>G	NM_001282468.3	NP_001269397.1:p.?	NC_000015.9:g.28947352G>C	(Likely) benign	1 lab	1ae35567c7
20:45016086 ELMO2 G>A	20	45016086	45016086	G	A	ELMO2	c.426-10C>T	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45016086G>A	(Likely) benign	1 lab	1ae724915f
9:5073696 JAK2 A>T	9	5073696	5073696	A	T	JAK2	c.1777-2A>T	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5073696A>T	(Likely) benign	1 lab	1ae72d0b63
1:45243414 RPS8 G>A	1	45243414	45243414	G	A	RPS8	c.340G>A	NM_001012.2	NP_001003.1:p.(Glu114Lys)	NC_000001.10:g.45243414G>A	VUS	1 lab	1ae7ab91e4
3:25705734 TOP2B C>T	3	25705734	25705734	C	T	TOP2B	c.55G>A	NM_001330700.2	NP_001317629.1:p.(Ala19Thr)	NC_000003.11:g.25705734C>T	(Likely) benign	1 lab	1ae7d394eb
16:72046030 DHODH C>T	16	72046030	72046030	C	T	DHODH	c.103C>T	NM_001361.5	NP_001352.2:p.(Arg35Cys)	NC_000016.9:g.72046030C>T	(Likely) benign	1 lab	1ae8025ff1
10:13161019 OPTN C>T	10	13161019	13161019	C	T	OPTN	c.758C>T	NM_001008212.2	NP_001008213.1:p.(Ala253Val)	NC_000010.10:g.13161019C>T	(Likely) benign	1 lab	1ae874495d
5:79950732 DHFR G>GC	5	79950732	79950737	G	GC	DHFR	c.-425dup	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950737dup	VUS	1 lab	1ae94f4b43
5:35861085 IL7R G>C	5	35861085	35861085	G	C	IL7R	c.214G>C	NM_002185.5	NP_002176.2:p.(Glu72Gln)	NC_000005.9:g.35861085G>C	(Likely) benign	1 lab	1ae9500807
16:55866962 CES1 C>A	16	55866962	55866962	C	A	CES1	c.6G>T	NM_001025194.2	NP_001020365.1:p.(Trp2Cys)	NC_000016.9:g.55866962C>A	(Likely) benign	1 lab	1b034a0078
1:151403194 POGZ T>C	1	151403194	151403194	T	C	POGZ	c.407A>G	NM_015100.4	NP_055915.2:p.(Asn136Ser)	NC_000001.10:g.151403194T>C	(Likely) benign	1 lab	1ae9cc2c2f
1:8390340 SLC45A1 G>C	1	8390340	8390340	G	C	SLC45A1	c.787G>C	NM_001080397.3	NP_001073866.3:p.(Gly263Arg)	NC_000001.10:g.8390340G>C	VUS	1 lab	1aea69643b
18:59825010 PIGN T>C	18	59825010	59825010	T	C	PIGN	c.253A>G	NM_176787.5	NP_789744.1:p.(Ile85Val)	NC_000018.9:g.59825010T>C	(Likely) benign	1 lab	1aeb13118a
7:155592900 SHH C>T	7	155592900	155592900	C	T	SHH	c.*2694G>A	NM_000193.4	NP_000184.1:p.?	NC_000007.13:g.155592900C>T	VUS	1 lab	1aec8f19e4
19:46269622 SIX5 G>A	19	46269622	46269622	G	A	SIX5	c.1595C>T	NM_175875.5	NP_787071.3:p.(Ser532Leu)	NC_000019.9:g.46269622G>A	VUS	1 lab	1aee9622be
19:11333497 DOCK6 C>T	19	11333497	11333497	C	T	DOCK6	c.3154G>A	NM_020812.4	NP_065863.2:p.(Glu1052Lys)	NC_000019.9:g.11333497C>T	(Likely) pathogenic	1 lab	1aef03f32a
16:3293235 MEFV G>C	16	3293235	3293235	G	C	MEFV	c.2252C>G	NM_000243.3	NP_000234.1:p.(Pro751Arg)	NC_000016.9:g.3293235G>C	VUS	1 lab	1af0f924cd
16:67235651 ELMO3 C>T	16	67235651	67235651	C	T	ELMO3	c.925C>T	NM_024712.5	NP_078988.3:p.(Arg309Trp)	NC_000016.9:g.67235651C>T	(Likely) benign	1 lab	1af1a95b6e
19:39055815 RYR1 G>A	19	39055815	39055815	G	A	RYR1	c.12841G>A	NM_000540.3	NP_000531.2:p.(Gly4281Arg)	NC_000019.9:g.39055815G>A	VUS	1 lab	1af1ba99e1
6:43010898 CUL7 C>T	6	43010898	43010898	C	T	CUL7	c.3376G>A	NM_014780.5	NP_055595.2:p.(Asp1126Asn)	NC_000006.11:g.43010898C>T	VUS	1 lab	1af2b7f852
14:58910789 KIAA0586 CAA>C	14	58910789	58910791	CAA	C	KIAA0586	c.704_705del	NM_001329943.3	NP_001316872.1:p.(Gln235ArgfsTer7)	NC_000014.8:g.58910790_58910791del	(Likely) pathogenic	1 lab	1af4d2b2a4
22:20780285 SCARF2 C>A	22	20780285	20780285	C	A	SCARF2	c.1978G>T	NM_182895.5	NP_878315.2:p.(Ala660Ser)	NC_000022.10:g.20780285C>A	VUS	1 lab	1af5e36d69
9:94118178 AUH C>T	9	94118178	94118178	C	T	AUH	c.405G>A	NM_001698.3	NP_001689.1:p.(Gly135=)	NC_000009.11:g.94118178C>T	(Likely) benign	1 lab	1af797c2e1
2:220082982 ABCB6 C>T	2	220082982	220082982	C	T	ABCB6	c.414G>A	NM_005689.4	NP_005680.1:p.(Met138Ile)	NC_000002.11:g.220082982C>T	VUS	1 lab	1afa4581f0
2:20197018 MATN3 G>A	2	20197018	20197018	G	A	MATN3	c.1171C>T	NM_002381.5	NP_002372.1:p.(Arg391Cys)	NC_000002.11:g.20197018G>A	(Likely) benign	1 lab	1afad0380d
6:43484852 POLR1C C>G	6	43484852	43484852	C	G	POLR1C	c.5C>G	NM_203290.4	NP_976035.1:p.(Ala2Gly)	NC_000006.11:g.43484852C>G	VUS	1 lab	1afadf0d88
15:69715565 KIF23 G>T	15	69715565	69715565	G	T	KIF23	c.631G>T	NM_001367805.3	NP_001354734.1:p.(Asp211Tyr)	NC_000015.9:g.69715565G>T	(Likely) benign	1 lab	1afb2a83db
4:102044683 PPP3CA G>A	4	102044683	102044683	G	A	PPP3CA	c.260-14448C>T	NM_000944.5	NP_000935.1:p.?	NC_000004.11:g.102044683G>A	(Likely) benign	1 lab	1afc6d5813
6:106968853 CRYBG1 C>T	6	106968853	106968853	C	T	CRYBG1	c.3770C>T	NM_001371242.2	NP_001358171.1:p.(Ser1257Phe)	NC_000006.11:g.106968853C>T	(Likely) benign	1 lab	1afde4da83
9:140610596 EHMT1 T>TGG	9	140610596	140610601	T	TGG	EHMT1	c.86-478_86-477dup	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140610600_140610601dup	(Likely) benign	1 lab	1aff25bd7a
3:10255002 IRAK2 C>G	3	10255002	10255002	C	G	IRAK2	c.640C>G	NM_001570.4	NP_001561.3:p.(Arg214Gly)	NC_000003.11:g.10255002C>G	(Likely) benign	1 lab	1b249a4af7
11:89224128 NOX4 A>G	11	89224128	89224128	A	G	NOX4	c.57+230T>C	NM_016931.5	NP_058627.2:p.?	NC_000011.9:g.89224128A>G	VUS	1 lab	1b01f25ff8
X:140994094 MAGEC1 C>T	X	140994094	140994094	C	T	MAGEC1	c.904C>T	NM_005462.5	NP_005453.2:p.(Pro302Ser)	NC_000023.10:g.140994094C>T	(Likely) benign	1 lab	1b0267c232
6:157495164 ARID1B G>T	6	157495164	157495164	G	T	ARID1B	c.3258G>T	NM_001374828.1	NP_001361757.1:p.(Met1086Ile)	NC_000006.11:g.157495164G>T	VUS	1 lab	1b02aa0bbc
12:6061594 VWF C>T	12	6061594	6061594	C	T	VWF	c.8078G>A	NM_000552.4	NP_000543.2:p.(Cys2693Tyr)	NC_000012.11:g.6061594C>T	(Likely) pathogenic	1 lab	39380b0f27
3:123071389 ADCY5 C>T	3	123071389	123071389	C	T	ADCY5	c.1174G>A	NM_183357.3	NP_899200.1:p.(Val392Met)	NC_000003.11:g.123071389C>T	VUS	1 lab	1b03d336ce
2:73786270 ALMS1 G>A	2	73786270	73786270	G	A	ALMS1	c.10384+1G>A	NM_001378454.1	NP_001365383.1:p.?	NC_000002.11:g.73786270G>A	(Likely) pathogenic	1 lab	1b052616cf
5:178415998 GRM6 G>A	5	178415998	178415998	G	A	GRM6	c.1292C>T	NM_000843.4	NP_000834.2:p.(Pro431Leu)	NC_000005.9:g.178415998G>A	VUS	1 lab	1b07b6b9ff
X:54950960 TRO C>T	X	54950960	54950960	C	T	TRO	c.1313C>T	NM_001039705.3	NP_001034794.1:p.(Pro438Leu)	NC_000023.10:g.54950960C>T	(Likely) benign	1 lab	1b084b2c7e
5:132163305 SHROOM1 T>TCAAAA	5	132163305	132163341	T	TCAAAA	SHROOM1	c.-500-11_-500-7dup	NM_001172700.2	NP_001166171.1:p.?	NC_000005.9:g.132163337_132163341dup	(Likely) benign	1 lab	1b09094326
6:87963942 ZNF292 A>T	6	87963942	87963942	A	T	ZNF292	c.1021-426A>T	NM_015021.3	NP_055836.1:p.?	NC_000006.11:g.87963942A>T	(Likely) benign	1 lab	1b0c0f1a71
4:79461792 FRAS1 C>A	4	79461792	79461792	C	A	FRAS1	c.11553C>A	NM_025074.7	NP_079350.5:p.(Asn3851Lys)	NC_000004.11:g.79461792C>A	(Likely) benign	1 lab	1b0c100bbc
8:145540747 DGAT1 G>A	8	145540747	145540747	G	A	DGAT1	c.1186C>T	NM_012079.6	NP_036211.2:p.(Arg396Trp)	NC_000008.10:g.145540747G>A	(Likely) benign	1 lab	1b0de2b24d
17:12920445 ELAC2 G>A	17	12920445	12920445	G	A	ELAC2	c.246-7C>T	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12920445G>A	(Likely) benign	1 lab	1b0dea6cbc
4:1805458 FGFR3 C>G	4	1805458	1805458	C	G	FGFR3	c.970C>G	NM_000142.5	NP_000133.1:p.(Leu324Val)	NC_000004.11:g.1805458C>G	VUS	1 lab	1b0fc2a312
6:117241565 RFX6 C>G	6	117241565	117241565	C	G	RFX6	c.1275C>G	NM_173560.4	NP_775831.2:p.(Ala425=)	NC_000006.11:g.117241565C>G	(Likely) benign	1 lab	1b10332e86
3:172165697 GHSR G>A	3	172165697	172165697	G	A	GHSR	c.507C>T	NM_198407.2	NP_940799.1:p.(Ala169=)	NC_000003.11:g.172165697G>A	(Likely) benign	1 lab	1b105f56b2
5:32780858 NPR3 A>G	5	32780858	32780858	A	G	NPR3	c.1226A>G	NM_001204375.2	NP_001191304.1:p.(Asn409Ser)	NC_000005.9:g.32780858A>G	VUS	1 lab	1b1147b9cb
15:90185561 KIF7 C>G	15	90185561	90185561	C	G	KIF7	c.2267G>C	NM_198525.3	NP_940927.2:p.(Arg756Pro)	NC_000015.9:g.90185561C>G	VUS	1 lab	30643887f4
3:436366 CHL1 A>T	3	436366	436366	A	T	CHL1	c.2915-10A>T	NM_006614.4	NP_006605.2:p.?	NC_000003.11:g.436366A>T	(Likely) benign	1 lab	1b146d50cb
17:60042764 MED13 T>C	17	60042764	60042764	T	C	MED13	c.4447A>G	NM_005121.3	NP_005112.2:p.(Thr1483Ala)	NC_000017.10:g.60042764T>C	(Likely) benign	1 lab	1b147e7c17
6:43139537 SRF G>T	6	43139537	43139537	G	T	SRF	c.143G>T	NM_003131.4	NP_003122.1:p.(Gly48Val)	NC_000006.11:g.43139537G>T	VUS	1 lab	1b16a7a374
8:96037319 NDUFAF6 G>C	8	96037319	96037319	G	C	NDUFAF6	c.83G>C	NM_152416.4	NP_689629.2:p.(Gly28Ala)	NC_000008.10:g.96037319G>C	(Likely) benign	1 lab	1b196c7806
1:47276840 CYP4B1 C>T	1	47276840	47276840	C	T	CYP4B1	c.351C>T	NM_001099772.2	NP_001093242.1:p.(Phe117=)	NC_000001.10:g.47276840C>T	(Likely) benign	1 lab	1b19e253e9
19:17394321 ANKLE1 G>C	19	17394321	17394321	G	C	ANKLE1	c.748G>C	NM_152363.6	NP_689576.6:p.(Gly250Arg)	NC_000019.9:g.17394321G>C	(Likely) benign	1 lab	1b1a8bb87b
4:152246423 SH3D19 C>A	4	152246423	152246423	C	A	SH3D19	c.82G>T	NM_001378122.1	NP_001365051.1:p.(Gly28Cys)	NC_000004.11:g.152246423C>A	(Likely) benign	1 lab	1b1c89e2e9
20:43043264 HNF4A T>G	20	43043264	43043264	T	G	HNF4A	c.610T>G	NM_000457.5	NP_000448.3:p.(Tyr204Asp)	NC_000020.10:g.43043264T>G	VUS	1 lab	1b1cbcdb2a
1:207195414 C1orf116 G>T	1	207195414	207195414	G	T	C1orf116	c.1695C>A	NM_023938.6	NP_076427.2:p.(Ser565Arg)	NC_000001.10:g.207195414G>T	VUS	1 lab	1b1d0498bd
1:32042886 TINAGL1 G>A	1	32042886	32042886	G	A	TINAGL1	c.137G>A	NM_022164.3	NP_071447.1:p.(Arg46Gln)	NC_000001.10:g.32042886G>A	(Likely) benign	1 lab	1b1d57fc72
2:9566729 CPSF3 C>G	2	9566729	9566729	C	G	CPSF3	c.51-2165C>G	NM_016207.4	NP_057291.1:p.?	NC_000002.11:g.9566729C>G	(Likely) benign	1 lab	1b20267239
7:6048627 PMS2 C>G	7	6048627	6048627	C	G	PMS2	c.23+1G>C	NM_000535.7	NP_000526.2:p.?	NC_000007.13:g.6048627C>G	(Likely) pathogenic	1 lab	3071743e57
17:29661873 NF1 CTTTG>C	17	29661873	29661881	CTTTG	C	NF1	c.5835_5838del	NM_001042492.3	NP_001035957.1:p.(Cys1945TrpfsTer4)	NC_000017.10:g.29661878_29661881del	(Likely) pathogenic	1 lab	1b203de82f
6:29635410 MOG T>G	6	29635410	29635410	T	G	MOG	c.551-10T>G	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29635410T>G	(Likely) benign	1 lab	1b209917d6
21:33739048 URB1 G>A	21	33739048	33739048	G	A	URB1	c.1214C>T	NM_014825.3	NP_055640.2:p.(Pro405Leu)	NC_000021.8:g.33739048G>A	VUS	1 lab	1b21410f76
17:78306017 RNF213 G>A	17	78306017	78306017	G	A	RNF213	c.3729G>A	NM_001256071.3	NP_001243000.2:p.(Pro1243=)	NC_000017.10:g.78306017G>A	(Likely) benign	1 lab	1b230e5fec
15:89398826 ACAN A>C	15	89398826	89398826	A	C	ACAN	c.3010A>C	NM_001369268.1	NP_001356197.1:p.(Thr1004Pro)	NC_000015.9:g.89398826A>C	VUS	1 lab	1b23114d2a
14:79111773 NRXN3 T>C	14	79111773	79111773	T	C	NRXN3	c.1059+9T>C	NM_001330195.2	NP_001317124.1:p.?	NC_000014.8:g.79111773T>C	(Likely) benign	1 lab	1b252c6e21
22:41536164 EP300 C>T	22	41536164	41536164	C	T	EP300	c.1781C>T	NM_001429.4	NP_001420.2:p.(Thr594Met)	NC_000022.10:g.41536164C>T	(Likely) benign	1 lab	1b2598247a
4:5578101 EVC2 G>C	4	5578101	5578101	G	C	EVC2	c.3138C>G	NM_147127.5	NP_667338.3:p.(Ser1046Arg)	NC_000004.11:g.5578101G>C	(Likely) benign	1 lab	1b25c84ea8
11:95528679 CEP57 G>T	11	95528679	95528679	G	T	CEP57	c.46-3717G>T	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95528679G>T	(Likely) benign	1 lab	1b2b50222f
12:111758314 CUX2 C>G	12	111758314	111758314	C	G	CUX2	c.2501C>G	NM_015267.4	NP_056082.2:p.(Pro834Arg)	NC_000012.11:g.111758314C>G	VUS	1 lab	1b2cdaff99
3:167405394 PDCD10 T>C	3	167405394	167405394	T	C	PDCD10	c.474+9A>G	NM_007217.4	NP_009148.2:p.?	NC_000003.11:g.167405394T>C	(Likely) benign	1 lab	1b2e45544d
16:2149720 PKD1 AAC>A	16	2149720	2149723	AAC	A	PKD1	c.9973_9974del	NM_001009944.3	NP_001009944.3:p.(Val3325TrpfsTer64)	NC_000016.9:g.2149722_2149723del	(Likely) pathogenic	1 lab	1b26d87321
1:1464688 ATAD3A G>A	1	1464688	1464688	G	A	ATAD3A	c.1591G>A	NM_001170535.3	NP_001164006.1:p.(Ala531Thr)	NC_000001.10:g.1464688G>A	VUS	1 lab	1b3194a0f1
16:1797228 MAPK8IP3 C>T	16	1797228	1797228	C	T	MAPK8IP3	c.946C>T	NM_001318852.2	NP_001305781.1:p.(Arg316Cys)	NC_000016.9:g.1797228C>T	VUS	1 lab	1b34b3f2ea
1:39854290 MACF1 C>A	1	39854290	39854290	C	A	MACF1	c.15776C>A	NM_001394062.1	NP_001380991.1:p.(Thr5259Asn)	NC_000001.10:g.39854290C>A	VUS	1 lab	1b355c12f3
6:166579288 TBXT T>C	6	166579288	166579288	T	C	TBXT	c.512A>G	NM_001366285.2	NP_001353214.1:p.(His171Arg)	NC_000006.11:g.166579288T>C	(Likely) pathogenic	1 lab	1b3796e3e2
19:47353913 AP2S1 C>A	19	47353913	47353913	C	A	AP2S1	c.3+108G>T	NM_004069.6	NP_004060.2:p.?	NC_000019.9:g.47353913C>A	(Likely) benign	1 lab	1b3a19fb8d
10:61833723 ANK3 T>C	10	61833723	61833723	T	C	ANK3	c.6916A>G	NM_020987.5	NP_066267.2:p.(Lys2306Glu)	NC_000010.10:g.61833723T>C	(Likely) benign	1 lab	1b3b027212
X:63411252 AMER1 G>C	X	63411252	63411252	G	C	AMER1	c.1915C>G	NM_152424.4	NP_689637.3:p.(Gln639Glu)	NC_000023.10:g.63411252G>C	VUS	1 lab	1b3d1d3445
9:35802607 NPR2 G>A	9	35802607	35802607	G	A	NPR2	c.1815+3G>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802607G>A	(Likely) benign	1 lab	1b3e23f5f2
14:68252945 ZFYVE26 G>A	14	68252945	68252945	G	A	ZFYVE26	c.3025C>T	NM_015346.4	NP_056161.2:p.(Arg1009Trp)	NC_000014.8:g.68252945G>A	(Likely) benign	1 lab	1b3e730348
16:89838143 FANCA C>G	16	89838143	89838143	C	G	FANCA	c.2094G>C	NM_000135.4	NP_000126.2:p.(Glu698Asp)	NC_000016.9:g.89838143C>G	(Likely) benign	1 lab	1b3ec6ac6f
22:41533683 EP300 T>C	22	41533683	41533683	T	C	EP300	c.1649T>C	NM_001429.4	NP_001420.2:p.(Val550Ala)	NC_000022.10:g.41533683T>C	(Likely) benign	1 lab	1b427d4080
1:111144759 KCNA2 G>A	1	111144759	111144759	G	A	KCNA2	c.*1146C>T	NM_004974.4	NP_004965.1:p.?	NC_000001.10:g.111144759G>A	VUS	1 lab	1b43540336
19:1467803 APC2 C>T	19	1467803	1467803	C	T	APC2	c.4503C>T	NM_005883.3	NP_005874.1:p.(Pro1501=)	NC_000019.9:g.1467803C>T	(Likely) benign	1 lab	1b43728311
15:42682235 CAPN3 A>T	15	42682235	42682235	A	T	CAPN3	c.886A>T	NM_000070.3	NP_000061.1:p.(Asn296Tyr)	NC_000015.9:g.42682235A>T	(Likely) pathogenic	1 lab	1b43c75d3f
15:51242055 AP4E1 C>A	15	51242055	51242055	C	A	AP4E1	c.1349C>A	NM_007347.5	NP_031373.2:p.(Thr450Lys)	NC_000015.9:g.51242055C>A	VUS	1 lab	1b4465993c
22:43623395 SCUBE1 C>T	22	43623395	43623395	C	T	SCUBE1	c.1192G>A	NM_173050.5	NP_766638.2:p.(Gly398Arg)	NC_000022.10:g.43623395C>T	(Likely) benign	1 lab	1b447e0255
3:36873306 TRANK1 G>A	3	36873306	36873306	G	A	TRANK1	c.7768C>T	NM_001329998.2	NP_001316927.1:p.(Arg2590Trp)	NC_000003.11:g.36873306G>A	(Likely) benign	1 lab	1b45504174
5:14673768 OTULIN G>A	5	14673768	14673768	G	A	OTULIN	c.170G>A	NM_138348.6	NP_612357.4:p.(Arg57His)	NC_000005.9:g.14673768G>A	VUS	1 lab	1b461c3879
16:16259770 ABCC6 T>A	16	16259770	16259770	T	A	ABCC6	c.3016A>T	NM_001171.6	NP_001162.5:p.(Met1006Leu)	NC_000016.9:g.16259770T>A	VUS	1 lab	1b4786715e
15:32686372 GOLGA8K C>G	15	32686372	32686372	C	G	GOLGA8K	c.1339G>C	NM_001282493.2	NP_001269422.1:p.(Glu447Gln)	NC_000015.9:g.32686372C>G	VUS	1 lab	1b49748bfc
5:151045999 SPARC G>T	5	151045999	151045999	G	T	SPARC	c.657C>A	NM_003118.4	NP_003109.1:p.(Asp219Glu)	NC_000005.9:g.151045999G>T	VUS	1 lab	1b497d497b
11:65838058 PACS1 C>A	11	65838058	65838058	C	A	PACS1	c.101C>A	NM_018026.4	NP_060496.2:p.(Pro34Gln)	NC_000011.9:g.65838058C>A	(Likely) benign	1 lab	1b49a9b2b8
16:2140024 PKD1 T>TC	16	2140024	2140028	T	TC	PKD1	c.12615dup	NM_001009944.3	NP_001009944.3:p.(Thr4206AspfsTer4)	NC_000016.9:g.2140028dup	(Likely) pathogenic	1 lab	1b4a6f3481
18:19438552 MIB1 A>T	18	19438552	19438552	A	T	MIB1	c.2825A>T	NM_020774.3	NP_065825.1:p.(Asn942Ile)	NC_000018.9:g.19438552A>T	VUS	1 lab	1b2794e1c4
12:57496699 STAT6 C>T	12	57496699	57496699	C	T	STAT6	c.1218G>A	NM_003153.5	NP_003144.3:p.(Leu406=)	NC_000012.11:g.57496699C>T	(Likely) benign	1 lab	1b2adde056
12:133240620 POLE G>A	12	133240620	133240620	G	A	POLE	c.2676C>T	NM_006231.4	NP_006222.2:p.(Tyr892=)	NC_000012.11:g.133240620G>A	VUS	1 lab	1b4d325fb5
9:140729391 EHMT1 G>A	9	140729391	140729391	G	A	EHMT1	c.3883G>A	NM_024757.5	NP_079033.4:p.(Ala1295Thr)	NC_000009.11:g.140729391G>A	VUS	1 lab	1b4d47e0ea
12:56530568 ESYT1 C>T	12	56530568	56530568	C	T	ESYT1	c.1673C>T	NM_015292.3	NP_056107.1:p.(Thr558Met)	NC_000012.11:g.56530568C>T	VUS	1 lab	1b4f122c0f
14:21897262 CHD8 G>A	14	21897262	21897262	G	A	CHD8	c.1076C>T	NM_001170629.2	NP_001164100.1:p.(Ser359Leu)	NC_000014.8:g.21897262G>A	(Likely) benign	1 lab	1b50e236a8
15:42145930 SPTBN5 C>T	15	42145930	42145930	C	T	SPTBN5	c.9830G>A	NM_016642.4	NP_057726.4:p.(Arg3277Gln)	NC_000015.9:g.42145930C>T	(Likely) benign	1 lab	1b525df352
13:28494553 PDX1 C>G	13	28494553	28494553	C	G	PDX1	c.278C>G	NM_000209.4	NP_000200.1:p.(Pro93Arg)	NC_000013.10:g.28494553C>G	(Likely) benign	1 lab	1b536d4aa7
11:61097044 DDB1 G>A	11	61097044	61097044	G	A	DDB1	c.340C>T	NM_001923.5	NP_001914.3:p.(Arg114Cys)	NC_000011.9:g.61097044G>A	(Likely) pathogenic	1 lab	1b54ca9563
X:3242795 MXRA5 A>T	X	3242795	3242795	A	T	MXRA5	c.931T>A	NM_015419.4	NP_056234.2:p.(Phe311Ile)	NC_000023.10:g.3242795A>T	VUS	1 lab	1b55de73ea
5:7868313 FASTKD3 G>GA	5	7868313	7868336	G	GA	FASTKD3	c.-113-5dup	NM_024091.4	NP_076996.2:p.?	NC_000005.9:g.7868336dup	(Likely) benign	1 lab	1b56ec0c9b
11:76248949 EMSY A>G	11	76248949	76248949	A	G	EMSY	c.2515A>G	NM_001300942.2	NP_001287871.1:p.(Ile839Val)	NC_000011.9:g.76248949A>G	(Likely) benign	1 lab	1b57af2e33
22:26423446 MYO18B C>T	22	26423446	26423446	C	T	MYO18B	c.7506C>T	NM_032608.7	NP_115997.5:p.(Pro2502=)	NC_000022.10:g.26423446C>T	(Likely) benign	1 lab	1b57f4edbf
1:225555667 DNAH14 A>G	1	225555667	225555667	A	G	DNAH14	c.12251A>G	NM_001367479.1	NP_001354408.1:p.(Asn4084Ser)	NC_000001.10:g.225555667A>G	(Likely) benign	1 lab	1b58692922
19:47249351 STRN4 A>AGGCCG	19	47249351	47249373	A	AGGCCG	STRN4	c.282+50_282+54dup	NM_013403.3	NP_037535.2:p.?	NC_000019.9:g.47249369_47249373dup	(Likely) benign	1 lab	1b58fa857a
19:51171666 SHANK1 T>G	19	51171666	51171666	T	G	SHANK1	c.3551A>C	NM_016148.5	NP_057232.2:p.(Gln1184Pro)	NC_000019.9:g.51171666T>G	VUS	1 lab	1b5913090d
15:73615390 HCN4 G>C	15	73615390	73615390	G	C	HCN4	c.3044C>G	NM_005477.3	NP_005468.1:p.(Ser1015Cys)	NC_000015.9:g.73615390G>C	VUS	1 lab	1b595f031c
X:53112060 TSPYL2 G>A	X	53112060	53112060	G	A	TSPYL2	c.380G>A	NM_022117.4	NP_071400.1:p.(Ser127Asn)	NC_000023.10:g.53112060G>A	VUS	1 lab	1b5a01f7f8
1:153891284 GATAD2B A>G	1	153891284	153891284	A	G	GATAD2B	c.-2+3925T>C	NM_020699.4	NP_065750.1:p.?	NC_000001.10:g.153891284A>G	(Likely) benign	1 lab	1b5a83e0d4
11:6655112 DCHS1 G>T	11	6655112	6655112	G	T	DCHS1	c.2126C>A	NM_003737.4	NP_003728.1:p.(Ala709Asp)	NC_000011.9:g.6655112G>T	(Likely) benign	1 lab	1b5ba363fe
12:53453256 TNS2 C>T	12	53453256	53453256	C	T	TNS2	c.1831C>T	NM_170754.4	NP_736610.2:p.(Arg611Trp)	NC_000012.11:g.53453256C>T	VUS	1 lab	1b5bd10247
11:64118635 CCDC88B C>T	11	64118635	64118635	C	T	CCDC88B	c.2866C>T	NM_032251.6	NP_115627.6:p.(Arg956Cys)	NC_000011.9:g.64118635C>T	VUS	1 lab	1b5ca7e710
2:88874884 EIF2AK3 T>C	2	88874884	88874884	T	C	EIF2AK3	c.2117A>G	NM_004836.7	NP_004827.4:p.(Lys706Arg)	NC_000002.11:g.88874884T>C	VUS	1 lab	1b5d6b3d82
1:167666809 RCSD1 G>C	1	167666809	167666809	G	C	RCSD1	c.948G>C	NM_052862.4	NP_443094.3:p.(Glu316Asp)	NC_000001.10:g.167666809G>C	VUS	1 lab	1b5e159c23
4:85600264 WDFY3 T>C	4	85600264	85600264	T	C	WDFY3	c.9955A>G	NM_014991.6	NP_055806.2:p.(Thr3319Ala)	NC_000004.11:g.85600264T>C	(Likely) benign	1 lab	1b5e93bbfc
6:110059611 FIG4 C>T	6	110059611	110059611	C	T	FIG4	c.730C>T	NM_014845.6	NP_055660.1:p.(Arg244Cys)	NC_000006.11:g.110059611C>T	VUS	1 lab	1b5f9673ad
X:47847989 ZNF182 G>A	X	47847989	47847989	G	A	ZNF182	c.16-5178C>T	NM_001007088.2	NP_001007089.1:p.?	NC_000023.10:g.47847989G>A	(Likely) benign	1 lab	1b6011cba1
13:39261786 FREM2 G>C	13	39261786	39261786	G	C	FREM2	c.305G>C	NM_207361.6	NP_997244.4:p.(Gly102Ala)	NC_000013.10:g.39261786G>C	VUS	1 lab	1b604c4fd4
19:47858386 DHX34 C>T	19	47858386	47858386	C	T	DHX34	c.796C>T	NM_014681.6	NP_055496.2:p.(Arg266Trp)	NC_000019.9:g.47858386C>T	(Likely) benign	1 lab	1b610c4fb8
16:2162944 PKD1 C>G	16	2162944	2162944	C	G	PKD1	c.3006G>C	NM_001009944.3	NP_001009944.3:p.(Val1002=)	NC_000016.9:g.2162944C>G	(Likely) benign	1 lab	1b61ca9afd
3:69158265 LMOD3 A>T	3	69158265	69158265	A	T	LMOD3	c.1664T>A	NM_198271.5	NP_938012.2:p.(Leu555Gln)	NC_000003.11:g.69158265A>T	(Likely) benign	1 lab	1b628d3875
12:66219099 HMGA2 G>T	12	66219099	66219099	G	T	HMGA2	c.49G>T	NM_003483.6	NP_003474.1:p.(Gly17Ter)	NC_000012.11:g.66219099G>T	(Likely) pathogenic	1 lab	1b632b2801
12:121426848 HNF1A C>CT	12	121426848	121426849	C	CT	HNF1A	c.526+13_526+14insT	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121426848_121426849insT	(Likely) benign	1 lab	1b64673bb6
2:88887625 EIF2AK3 A>G	2	88887625	88887625	A	G	EIF2AK3	c.1307-3T>C	NM_004836.7	NP_004827.4:p.?	NC_000002.11:g.88887625A>G	(Likely) benign	1 lab	1b64be9746
10:89530722 ATAD1 T>A	10	89530722	89530722	T	A	ATAD1	c.767A>T	NM_001321967.2	NP_001308896.1:p.(His256Leu)	NC_000010.10:g.89530722T>A	VUS	1 lab	1b65e3362f
17:76991201 CANT1 G>A	17	76991201	76991201	G	A	CANT1	c.734C>T	NM_001159773.2	NP_001153245.1:p.(Pro245Leu)	NC_000017.10:g.76991201G>A	(Likely) pathogenic	1 lab	1b65fb1985
9:130591961 ENG C>A	9	130591961	130591961	C	A	ENG	c.360+5G>T	NM_000118.3	NP_000109.1:p.?	NC_000009.11:g.130591961C>A	VUS	1 lab	1b2eb11013
X:127186068 ACTRT1 C>T	X	127186068	127186068	C	T	ACTRT1	c.118G>A	NM_138289.4	NP_612146.1:p.(Gly40Arg)	NC_000023.10:g.127186068C>T	(Likely) benign	1 lab	1b69efce67
4:6302387 WFS1 G>T	4	6302387	6302387	G	T	WFS1	c.865G>T	NM_006005.3	NP_005996.2:p.(Val289Phe)	NC_000004.11:g.6302387G>T	VUS	1 lab	1b6a49e737
17:40695828 NAGLU CT>C	17	40695828	40695829	CT	C	NAGLU	c.1805del	NM_000263.4	NP_000254.2:p.(Leu602ArgfsTer21)	NC_000017.10:g.40695829del	(Likely) pathogenic	1 lab	1b6a989251
11:46393060 DGKZ C>T	11	46393060	46393060	C	T	DGKZ	c.663C>T	NM_001199267.2	NP_001186196.1:p.(Phe221=)	NC_000011.9:g.46393060C>T	VUS	1 lab	1b6ba80c1e
17:56283391 MKS1 G>T	17	56283391	56283391	G	T	MKS1	c.*49C>A	NM_017777.4	NP_060247.2:p.?	NC_000017.10:g.56283391G>T	VUS	1 lab	1b6c2d5d91
6:56382335 DST C>A	6	56382335	56382335	C	A	DST	c.18213G>T	NM_001374736.1	NP_001361665.1:p.(Glu6071Asp)	NC_000006.11:g.56382335C>A	(Likely) benign	1 lab	1b6d18f121
3:37365433 GOLGA4 C>G	3	37365433	37365433	C	G	GOLGA4	c.2056C>G	NM_002078.5	NP_002069.2:p.(Leu686Val)	NC_000003.11:g.37365433C>G	VUS	1 lab	1b6d6a70eb
4:15575912 CC2D2A A>G	4	15575912	15575912	A	G	CC2D2A	c.3734A>G	NM_001378615.1	NP_001365544.1:p.(Glu1245Gly)	NC_000004.11:g.15575912A>G	VUS	1 lab	1b6e78b522
9:97333766 FBP2 A>T	9	97333766	97333766	A	T	FBP2	c.545T>A	NM_003837.4	NP_003828.2:p.(Val182Glu)	NC_000009.11:g.97333766A>T	VUS	1 lab	1b702cfdce
4:3131758 HTT C>T	4	3131758	3131758	C	T	HTT	c.1851C>T	NM_001388492.1	NP_001375421.1:p.(Phe617=)	NC_000004.11:g.3131758C>T	VUS	1 lab	1b71ca0a40
10:89473069 PAPSS2 T>TAAAAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAAAAA	PAPSS2	c.381+11_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473078_89473091dup	(Likely) benign	1 lab	1b71d15515
11:802331 PIDD1 G>A	11	802331	802331	G	A	PIDD1	c.1040C>T	NM_145886.4	NP_665893.2:p.(Ala347Val)	NC_000011.9:g.802331G>A	VUS	1 lab	1b0a518396
15:82335761 MEX3B C>T	15	82335761	82335761	C	T	MEX3B	c.1450G>A	NM_032246.6	NP_115622.2:p.(Gly484Ser)	NC_000015.9:g.82335761C>T	VUS	1 lab	1b784bbbb3
9:131383523 SPTAN1 C>A	9	131383523	131383523	C	A	SPTAN1	c.5820C>A	NM_001130438.3	NP_001123910.1:p.(Asp1940Glu)	NC_000009.11:g.131383523C>A	(Likely) benign	1 lab	1b7881592e
16:71610186 TAT G>A	16	71610186	71610186	G	A	TAT	c.133C>T	NM_000353.3	NP_000344.1:p.(Pro45Ser)	NC_000016.9:g.71610186G>A	VUS	1 lab	1b7920f9c3
6:166580224 TBXT C>A	6	166580224	166580224	C	A	TBXT	c.327G>T	NM_001366285.2	NP_001353214.1:p.(Trp109Cys)	NC_000006.11:g.166580224C>A	VUS	1 lab	1b7aa9bd93
8:68130380 ARFGEF1 A>G	8	68130380	68130380	A	G	ARFGEF1	c.4339-7T>C	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68130380A>G	(Likely) benign	1 lab	1b7b377a39
2:32828067 BIRC6 C>T	2	32828067	32828067	C	T	BIRC6	c.13993-6C>T	NM_016252.4	NP_057336.3:p.?	NC_000002.11:g.32828067C>T	(Likely) benign	1 lab	1b8fed81f3
12:121435341 HNF1A CCTGCAGCCCGTCCAGTTCTCCCAGCCG>C	12	121435341	121435373	CCTGCAGCCCGTCCAGTTCTCCCAGCCG	C	HNF1A	c.1380_1406del	NM_000545.8	NP_000536.6:p.(Gln460_Leu468del)	NC_000012.11:g.121435347_121435373del	VUS	1 lab	1b7e979f57
2:27668796 IFT172 A>G	2	27668796	27668796	A	G	IFT172	c.4815T>C	NM_015662.3	NP_056477.1:p.(Asp1605=)	NC_000002.11:g.27668796A>G	VUS	1 lab	1b7ef826ed
11:118629613 DDX6 T>TG	11	118629613	118629621	T	TG	DDX6	c.865-3dup	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118629621dup	(Likely) benign	1 lab	1b806d845c
11:117280360 CEP164 C>T	11	117280360	117280360	C	T	CEP164	c.3775C>T	NM_014956.5	NP_055771.4:p.(Arg1259Cys)	NC_000011.9:g.117280360C>T	VUS	1 lab	1b81490eed
20:61982321 CHRNA4 G>A	20	61982321	61982321	G	A	CHRNA4	c.442C>T	NM_000744.7	NP_000735.1:p.(Arg148Trp)	NC_000020.10:g.61982321G>A	VUS	1 lab	1b824f2ffc
2:179464522 TTN A>C	2	179464522	179464522	A	C	TTN	c.29286T>G	NM_133432.3	NP_597676.3:p.(Val9762=)	NC_000002.11:g.179464522A>C	(Likely) benign	1 lab	1b30574e28
9:70484397 ZNG1E C>A	9	70484397	70484397	C	A	ZNG1E	c.316G>T	NM_001330668.2	NP_001317597.1:p.(Gly106Cys)	NC_000009.11:g.70484397C>A	VUS	1 lab	1b8381f5ed
2:121745999 GLI2 G>A	2	121745999	121745999	G	A	GLI2	c.2458G>A	NM_001374353.1	NP_001361282.1:p.(Glu820Lys)	NC_000002.11:g.121745999G>A	(Likely) benign	1 lab	1b83f2ca6b
X:68381797 PJA1 C>T	X	68381797	68381797	C	T	PJA1	c.1120G>A	NM_001032396.4	NP_001027568.1:p.(Ala374Thr)	NC_000023.10:g.68381797C>T	(Likely) benign	1 lab	1b8aad1843
7:150773091 SLC4A2 G>A	7	150773091	150773091	G	A	SLC4A2	c.3472-9G>A	NM_003040.4	NP_003031.3:p.?	NC_000007.13:g.150773091G>A	(Likely) benign	1 lab	1b8b42a9d0
2:215610580 BARD1 T>C	2	215610580	215610580	T	C	BARD1	c.1678-2A>G	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215610580T>C	(Likely) pathogenic	1 lab	1b8b64b990
15:72023555 THSD4 A>G	15	72023555	72023555	A	G	THSD4	c.1629A>G	NM_024817.3	NP_079093.2:p.(Pro543=)	NC_000015.9:g.72023555A>G	VUS	1 lab	1b8c3068f0
10:97371107 ALDH18A1 T>A	10	97371107	97371107	T	A	ALDH18A1	c.2016A>T	NM_002860.4	NP_002851.2:p.(Glu672Asp)	NC_000010.10:g.97371107T>A	(Likely) benign	1 lab	1b8fa03bc5
15:63915986 HERC1 C>G	15	63915986	63915986	C	G	HERC1	c.13549G>C	NM_003922.4	NP_003913.3:p.(Val4517Leu)	NC_000015.9:g.63915986C>G	VUS	1 lab	1b9189deee
2:238419286 MLPH C>T	2	238419286	238419286	C	T	MLPH	c.180C>T	NM_024101.7	NP_077006.1:p.(Asn60=)	NC_000002.11:g.238419286C>T	(Likely) benign	1 lab	1b91b8396c
5:14488046 TRIO G>A	5	14488046	14488046	G	A	TRIO	c.7309G>A	NM_007118.4	NP_009049.2:p.(Ala2437Thr)	NC_000005.9:g.14488046G>A	(Likely) benign	1 lab	1b343ae46a
9:35801687 NPR2 G>A	9	35801687	35801687	G	A	NPR2	c.1484G>A	NM_003995.4	NP_003986.2:p.(Arg495His)	NC_000009.11:g.35801687G>A	VUS	1 lab	1b92c4202f
8:101225660 SPAG1 G>C	8	101225660	101225660	G	C	SPAG1	c.1435+4G>C	NM_003114.5	NP_003105.2:p.?	NC_000008.10:g.101225660G>C	(Likely) benign	1 lab	1b932c2830
1:116233816 VANGL1 G>A	1	116233816	116233816	G	A	VANGL1	c.1391G>A	NM_138959.3	NP_620409.1:p.(Arg464Lys)	NC_000001.10:g.116233816G>A	VUS	1 lab	1b950223d4
2:179497981 TTN A>G	2	179497981	179497981	A	G	TTN	c.43019T>C	NM_001267550.2	NP_001254479.2:p.(Ile14340Thr)	NC_000002.11:g.179497981A>G	VUS	1 lab	1b9a70d56a
5:70944962 MCCC2 G>A	5	70944962	70944962	G	A	MCCC2	c.1255G>A	NM_022132.5	NP_071415.1:p.(Ala419Thr)	NC_000005.9:g.70944962G>A	VUS	1 lab	1b9b8bb137
2:128184705 PROC A>C	2	128184705	128184705	A	C	PROC	c.703A>C	NM_000312.4	NP_000303.1:p.(Lys235Gln)	NC_000002.11:g.128184705A>C	VUS	1 lab	1b9c6c0e0c
2:152484314 NEB C>T	2	152484314	152484314	C	T	NEB	c.9866G>A	NM_001164508.2	NP_001157980.2:p.(Gly3289Asp)	NC_000002.11:g.152484314C>T	VUS	1 lab	1b9cd68ef3
1:229568780 ACTA1 G>T	1	229568780	229568780	G	T	ACTA1	c.83C>A	NM_001100.4	NP_001091.1:p.(Ala28Asp)	NC_000001.10:g.229568780G>T	VUS	1 lab	1b9e7caeae
8:145700595 FOXH1 T>C	8	145700595	145700595	T	C	FOXH1	c.224A>G	NM_003923.3	NP_003914.1:p.(Glu75Gly)	NC_000008.10:g.145700595T>C	VUS	1 lab	1b9e96444d
1:156878473 PEAR1 C>T	1	156878473	156878473	C	T	PEAR1	c.1142C>T	NM_001080471.1	NP_001073940.1:p.(Ser381Phe)	NC_000001.10:g.156878473C>T	(Likely) benign	1 lab	1b34899083
1:22155422 HSPG2 A>G	1	22155422	22155422	A	G	HSPG2	c.12143T>C	NM_005529.7	NP_005520.4:p.(Leu4048Pro)	NC_000001.10:g.22155422A>G	VUS	1 lab	1ba04eb9f2
17:79031773 BAIAP2 AC>A	17	79031773	79031789	AC	A	BAIAP2	c.217+22del	NM_001144888.2	NP_001138360.1:p.?	NC_000017.10:g.79031789del	(Likely) benign	1 lab	1ba080281b
14:21820891 SUPT16H G>A	14	21820891	21820891	G	A	SUPT16H	c.3085C>T	NM_007192.4	NP_009123.1:p.(Arg1029Cys)	NC_000014.8:g.21820891G>A	(Likely) benign	1 lab	1ba12a2b17
12:133241063 POLE C>T	12	133241063	133241063	C	T	POLE	c.2469-15G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133241063C>T	VUS	1 lab	1ba39a0677
11:67795344 ALDH3B1 G>A	11	67795344	67795344	G	A	ALDH3B1	c.1344G>A	NM_000694.4	NP_000685.1:p.(Pro448=)	NC_000011.9:g.67795344G>A	VUS	1 lab	1ba417881e
16:2159636 PKD1 G>A	16	2159636	2159636	G	A	PKD1	c.5532C>T	NM_001009944.3	NP_001009944.3:p.(Gly1844=)	NC_000016.9:g.2159636G>A	(Likely) benign	1 lab	1ba5988b13
22:36681727 MYH9 G>A	22	36681727	36681727	G	A	MYH9	c.5251C>T	NM_002473.6	NP_002464.1:p.(Arg1751Trp)	NC_000022.10:g.36681727G>A	VUS	1 lab	1ba5b93dc5
2:27851628 CCDC121 C>T	2	27851628	27851628	C	T	CCDC121	c.-119+189G>A	NM_024584.5	NP_078860.2:p.?	NC_000002.11:g.27851628C>T	VUS	1 lab	1ba6e4622b
20:3215390 SLC4A11 G>C	20	3215390	3215390	G	C	SLC4A11	c.239C>G	NM_001174089.2	NP_001167560.1:p.(Thr80Ser)	NC_000020.10:g.3215390G>C	(Likely) benign	1 lab	1ba6fb79f3
1:94564522 ABCA4 G>A	1	94564522	94564522	G	A	ABCA4	c.596C>T	NM_000350.3	NP_000341.2:p.(Ala199Val)	NC_000001.10:g.94564522G>A	VUS	1 lab	1ba716926f
19:50162988 IRF3 G>C	19	50162988	50162988	G	C	IRF3	c.1201C>G	NM_001571.6	NP_001562.1:p.(Leu401Val)	NC_000019.9:g.50162988G>C	VUS	1 lab	1b12a5d797
7:127954847 RBM28 G>A	7	127954847	127954847	G	A	RBM28	c.2015C>T	NM_018077.3	NP_060547.2:p.(Ala672Val)	NC_000007.13:g.127954847G>A	VUS	1 lab	1ba8091452
15:90294296 MESP1 G>GCGGGGCTCGGCA	15	90294296	90294306	G	GCGGGGCTCGGCA	MESP1	c.166_167insTGCCGAGCCCCG	NM_018670.4	NP_061140.1:p.(Pro55_Ala56insValProSerPro)	NC_000015.9:g.90294305_90294306insGCACGGGGCTCG	(Likely) benign	1 lab	1bad6c0fb9
14:79111742 NRXN3 A>G	14	79111742	79111742	A	G	NRXN3	c.1037A>G	NM_001330195.2	NP_001317124.1:p.(Lys346Arg)	NC_000014.8:g.79111742A>G	VUS	1 lab	1bad93cb57
15:66621333 DIS3L C>G	15	66621333	66621333	C	G	DIS3L	c.2227C>G	NM_001143688.3	NP_001137160.1:p.(Leu743Val)	NC_000015.9:g.66621333C>G	VUS	1 lab	1bae8e0b34
17:56598121 SEPTIN4 G>A	17	56598121	56598121	G	A	SEPTIN4	c.2914C>T	NM_001368771.2	NP_001355700.1:p.(Arg972Ter)	NC_000017.10:g.56598121G>A	VUS	1 lab	1baeb9c341
2:159519539 PKP4 C>G	2	159519539	159519539	C	G	PKP4	c.2342C>G	NM_003628.6	NP_003619.2:p.(Ser781Cys)	NC_000002.11:g.159519539C>G	VUS	1 lab	1baefd96ce
1:26509831 CNKSR1 C>T	1	26509831	26509831	C	T	CNKSR1	c.685-6C>T	NM_006314.3	NP_006305.2:p.?	NC_000001.10:g.26509831C>T	(Likely) benign	1 lab	1baf0497de
20:61448929 COL9A3 TCCCCGGCCC>T	20	61448929	61448950	TCCCCGGCCC	T	COL9A3	c.102_110del	NM_001853.4	NP_001844.3:p.(Pro39_Gly41del)	NC_000020.10:g.61448942_61448950del	VUS	1 lab	1baf3c2e80
5:42719104 GHR G>A	5	42719104	42719104	G	A	GHR	c.1495G>A	NM_000163.5	NP_000154.1:p.(Val499Met)	NC_000005.9:g.42719104G>A	VUS	1 lab	1baff65dfd
1:152276880 FLG T>C	1	152276880	152276880	T	C	FLG	c.10482A>G	NM_002016.2	NP_002007.1:p.(Gln3494=)	NC_000001.10:g.152276880T>C	(Likely) benign	1 lab	1bb0deef3a
2:70315391 PCBP1 G>C	2	70315391	70315391	G	C	PCBP1	c.516G>C	NM_006196.4	NP_006187.2:p.(Gln172His)	NC_000002.11:g.70315391G>C	(Likely) benign	1 lab	1bb2799468
9:73458050 TRPM3 A>AT	9	73458050	73458051	A	AT	TRPM3	c.677-8_677-7insA	NM_001366145.2	NP_001353074.1:p.?	NC_000009.11:g.73458050_73458051insT	(Likely) benign	1 lab	1bb2b00db6
X:114364755 LRCH2 G>A	X	114364755	114364755	G	A	LRCH2	c.1703C>T	NM_020871.4	NP_065922.3:p.(Ser568Leu)	NC_000023.10:g.114364755G>A	VUS	1 lab	1bb2c41bcb
13:101742315 NALCN G>T	13	101742315	101742315	G	T	NALCN	c.3272C>A	NM_052867.4	NP_443099.1:p.(Ala1091Glu)	NC_000013.10:g.101742315G>T	VUS	1 lab	1bb4156984
2:152466634 NEB A>G	2	152466634	152466634	A	G	NEB	c.12019T>C	NM_001164508.2	NP_001157980.2:p.(Tyr4007His)	NC_000002.11:g.152466634A>G	VUS	1 lab	1bb42d1715
2:179585290 TTN T>A	2	179585290	179585290	T	A	TTN	c.23199A>T	NM_001267550.1	NP_001254479.1:p.(Val7733=)	NC_000002.11:g.179585290T>A	(Likely) benign	1 lab	1b36d1d08b
7:31009592 GHRHR T>G	7	31009592	31009592	T	G	GHRHR	c.366+13T>G	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31009592T>G	(Likely) benign	1 lab	1bb5349b7c
4:73184285 ADAMTS3 A>G	4	73184285	73184285	A	G	ADAMTS3	c.1485+4T>C	NM_014243.3	NP_055058.2:p.?	NC_000004.11:g.73184285A>G	VUS	1 lab	1bb5e0402d
2:168100110 XIRP2 C>T	2	168100110	168100110	C	T	XIRP2	c.2208C>T	NM_152381.6	NP_689594.4:p.(Phe736=)	NC_000002.11:g.168100110C>T	VUS	1 lab	1bb6878e0e
15:62219337 VPS13C G>A	15	62219337	62219337	G	A	VPS13C	c.6469C>T	NM_020821.3	NP_065872.1:p.(Leu2157Phe)	NC_000015.9:g.62219337G>A	(Likely) benign	1 lab	1bb77293b1
10:50950902 OGDHL C>T	10	50950902	50950902	C	T	OGDHL	c.1984G>A	NM_018245.3	NP_060715.2:p.(Gly662Arg)	NC_000010.10:g.50950902C>T	VUS	1 lab	1bbc143897
5:37226886 CPLANE1 T>A	5	37226886	37226886	T	A	CPLANE1	c.1811A>T	NM_001384732.1	NP_001371661.1:p.(His604Leu)	NC_000005.9:g.37226886T>A	VUS	1 lab	1bbcd2d44f
5:122426035 PRDM6 C>T	5	122426035	122426035	C	T	PRDM6	c.326C>T	NM_001136239.4	NP_001129711.1:p.(Ser109Leu)	NC_000005.9:g.122426035C>T	(Likely) benign	1 lab	1bbcdcc808
2:165986592 SCN3A T>C	2	165986592	165986592	T	C	SCN3A	c.2780A>G	NM_006922.4	NP_008853.3:p.(Asn927Ser)	NC_000002.11:g.165986592T>C	VUS	1 lab	1b145f4018
1:39788673 MACF1 A>T	1	39788673	39788673	A	T	MACF1	c.4229A>T	NM_001394062.1	NP_001380991.1:p.(Glu1410Val)	NC_000001.10:g.39788673A>T	VUS	1 lab	1bbeb0cc10
11:31815037 PAX6 G>A	11	31815037	31815037	G	A	PAX6	c.1023C>T	NM_001368894.2	NP_001355823.1:p.(Ser341=)	NC_000011.9:g.31815037G>A	(Likely) benign	1 lab	1bbec83111
X:152845440 ATP2B3 G>A	X	152845440	152845440	G	A	ATP2B3	c.3347G>A	NM_001001344.3	NP_001001344.1:p.(Arg1116Gln)	NC_000023.10:g.152845440G>A	(Likely) benign	1 lab	1bbed642d4
8:74888613 TMEM70 C>CG	8	74888613	74888616	C	CG	TMEM70	c.100dup	NM_017866.6	NP_060336.3:p.(Ala34GlyfsTer54)	NC_000008.10:g.74888616dup	VUS	1 lab	1bc005c49b
15:43028511 CDAN1 G>C	15	43028511	43028511	G	C	CDAN1	c.558C>G	NM_138477.4	NP_612486.2:p.(Pro186=)	NC_000015.9:g.43028511G>C	(Likely) benign	1 lab	1bc0263a26
X:47433731 SYN1 G>GAGGC	X	47433731	47433735	G	GAGGC	SYN1	c.1648_1651dup	NM_006950.3	NP_008881.2:p.(Ser551CysfsTer134)	NC_000023.10:g.47433732_47433735dup	(Likely) pathogenic	1 lab	1bc372e6c2
14:21896192 CHD8 G>A	14	21896192	21896192	G	A	CHD8	c.1437C>T	NM_001170629.2	NP_001164100.1:p.(Asn479=)	NC_000014.8:g.21896192G>A	(Likely) benign	1 lab	1bc38cd6b7
19:48821757 ODAD1 G>A	19	48821757	48821757	G	A	ODAD1	c.247C>T	NM_001364171.2	NP_001351100.1:p.(Arg83Trp)	NC_000019.9:g.48821757G>A	(Likely) benign	1 lab	1bc4a64b64
X:153788775 IKBKG G>A	X	153788775	153788775	G	A	IKBKG	c.671+1G>A	NM_001099857.5	NP_001093327.1:p.?	NC_000023.10:g.153788775G>A	(Likely) pathogenic	1 lab	1b1956beb1
9:117525 FOXD4 G>A	9	117525	117525	G	A	FOXD4	c.595C>T	NM_207305.5	NP_997188.2:p.(Arg199Cys)	NC_000009.11:g.117525G>A	VUS	1 lab	1bc74357c0
2:16082899 MYCN G>C	2	16082899	16082899	G	C	MYCN	c.713G>C	NM_005378.6	NP_005369.2:p.(Arg238Pro)	NC_000002.11:g.16082899G>C	(Likely) benign	1 lab	1bc82588ec
1:63881534 ALG6 A>G	1	63881534	63881534	A	G	ALG6	c.903-10A>G	NM_013339.4	NP_037471.2:p.?	NC_000001.10:g.63881534A>G	(Likely) benign	1 lab	1bc82b8aab
2:219527309 BCS1L C>T	2	219527309	219527309	C	T	BCS1L	c.796C>T	NM_001079866.2	NP_001073335.1:p.(Leu266Phe)	NC_000002.11:g.219527309C>T	VUS	1 lab	1bcb59e7fc
X:140994400 MAGEC1 C>G	X	140994400	140994400	C	G	MAGEC1	c.1210C>G	NM_005462.5	NP_005453.2:p.(Pro404Ala)	NC_000023.10:g.140994400C>G	VUS	1 lab	1bced7c1a3
6:157511209 ARID1B G>A	6	157511209	157511209	G	A	ARID1B	c.4096G>A	NM_001374828.1	NP_001361757.1:p.(Val1366Met)	NC_000006.11:g.157511209G>A	VUS	1 lab	1bcff3880e
19:10291089 DNMT1 G>T	19	10291089	10291089	G	T	DNMT1	c.382C>A	NM_001130823.3	NP_001124295.1:p.(Pro128Thr)	NC_000019.9:g.10291089G>T	(Likely) benign	1 lab	1bd0e155f2
3:126236465 UROC1 G>T	3	126236465	126236465	G	T	UROC1	c.98C>A	NM_144639.3	NP_653240.1:p.(Thr33Asn)	NC_000003.11:g.126236465G>T	(Likely) benign	1 lab	1bd2ae9ea7
1:22178052 HSPG2 G>A	1	22178052	22178052	G	A	HSPG2	c.7145C>T	NM_005529.7	NP_005520.4:p.(Pro2382Leu)	NC_000001.10:g.22178052G>A	VUS	1 lab	1bd84fc3f1
11:17414669 ABCC8 C>T	11	17414669	17414669	C	T	ABCC8	c.4615G>A	NM_000352.6	NP_000343.2:p.(Val1539Met)	NC_000011.9:g.17414669C>T	VUS	1 lab	1bd96870b9
X:133915876 PABIR2 C>T	X	133915876	133915876	C	T	PABIR2	c.634G>A	NM_001387468.1	NP_001374397.1:p.(Ala212Thr)	NC_000023.10:g.133915876C>T	VUS	1 lab	1bde40d2c1
16:1250706 CACNA1H G>T	16	1250706	1250706	G	T	CACNA1H	c.1120-10G>T	NM_021098.3	NP_066921.2:p.?	NC_000016.9:g.1250706G>T	(Likely) benign	1 lab	1bdf19a912
19:45862131 ERCC2 C>CT	19	45862131	45862137	C	CT	ERCC2	c.1238-1175dup	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45862137dup	VUS	1 lab	1be0e1e7f3
12:14792800 GUCY2C A>G	12	14792800	14792800	A	G	GUCY2C	c.2153T>C	NM_004963.4	NP_004954.2:p.(Leu718Pro)	NC_000012.11:g.14792800A>G	VUS	1 lab	1be10ab131
4:46043162 GABRG1 C>T	4	46043162	46043162	C	T	GABRG1	c.1241G>A	NM_173536.4	NP_775807.2:p.(Ser414Asn)	NC_000004.11:g.46043162C>T	VUS	1 lab	1be16618ec
12:65634787 LEMD3 T>A	12	65634787	65634787	T	A	LEMD3	c.2225T>A	NM_014319.5	NP_055134.2:p.(Phe742Tyr)	NC_000012.11:g.65634787T>A	VUS	1 lab	1be3e77011
X:153586903 FLNA G>C	X	153586903	153586903	G	C	FLNA	c.4508C>G	NM_001110556.2	NP_001104026.1:p.(Ala1503Gly)	NC_000023.10:g.153586903G>C	(Likely) benign	1 lab	1be4ba0a1a
5:141051842 ARAP3 C>T	5	141051842	141051842	C	T	ARAP3	c.1412G>A	NM_022481.6	NP_071926.4:p.(Arg471Gln)	NC_000005.9:g.141051842C>T	(Likely) benign	1 lab	1be611109d
22:42611085 TCF20 T>G	22	42611085	42611085	T	G	TCF20	c.227A>C	NM_001378418.1	NP_001365347.1:p.(His76Pro)	NC_000022.10:g.42611085T>G	(Likely) benign	1 lab	1be63be659
7:1785350 ELFN1 C>T	7	1785350	1785350	C	T	ELFN1	c.1118C>T	NM_001128636.4	NP_001122108.1:p.(Thr373Met)	NC_000007.13:g.1785350C>T	VUS	1 lab	1be7ab55d8
18:31325920 ASXL3 C>T	18	31325920	31325920	C	T	ASXL3	c.6108C>T	NM_030632.3	NP_085135.1:p.(Pro2036=)	NC_000018.9:g.31325920C>T	(Likely) benign	1 lab	1be8f2bed8
X:18646628 CDKL5 CCT>C	X	18646628	18646630	CCT	C	CDKL5	c.2635_2636del	NM_001323289.2	NP_001310218.1:p.(Leu879GlufsTer49)	NC_000023.10:g.18646629_18646630del	VUS	1 lab	1bea991fdf
8:11683576 FDFT1 G>A	8	11683576	11683576	G	A	FDFT1	c.554G>A	NM_004462.5	NP_004453.3:p.(Arg185His)	NC_000008.10:g.11683576G>A	VUS	1 lab	1bed2cc1ed
2:179541972 TTN G>C	2	179541972	179541972	G	C	TTN	c.34334C>G	NM_001267550.2	NP_001254479.2:p.(Pro11445Arg)	NC_000002.11:g.179541972G>C	VUS	1 lab	1b2151cf7f
19:14024293 CC2D1A T>G	19	14024293	14024293	T	G	CC2D1A	c.590T>G	NM_017721.5	NP_060191.3:p.(Ile197Arg)	NC_000019.9:g.14024293T>G	VUS	1 lab	1bf3b31f69
1:153964542 RPS27 A>T	1	153964542	153964542	A	T	RPS27	c.228A>T	NM_001030.6	NP_001021.1:p.(Gly76=)	NC_000001.10:g.153964542A>T	(Likely) benign	1 lab	1bf45de7ef
15:72648998 HEXA T>C	15	72648998	72648998	T	C	HEXA	c.254-40A>G	NM_000520.6	NP_000511.2:p.?	NC_000015.9:g.72648998T>C	VUS	1 lab	1bf556da4b
1:38095274 RSPO1 G>A	1	38095274	38095274	G	A	RSPO1	c.60C>T	NM_001242908.2	NP_001229837.1:p.(Ser20=)	NC_000001.10:g.38095274G>A	VUS	1 lab	1bf7bc8bdc
4:175439162 HPGD T>C	4	175439162	175439162	T	C	HPGD	c.284A>G	NM_000860.6	NP_000851.2:p.(Asn95Ser)	NC_000004.11:g.175439162T>C	VUS	1 lab	1bf7c86128
3:113847689 DRD3 G>T	3	113847689	113847689	G	T	DRD3	c.1077C>A	NM_000796.6	NP_000787.2:p.(His359Gln)	NC_000003.11:g.113847689G>T	VUS	1 lab	1bf8a0dfb5
22:50966962 TYMP A>G	22	50966962	50966962	A	G	TYMP	c.495T>C	NM_001953.5	NP_001944.1:p.(Asn165=)	NC_000022.10:g.50966962A>G	(Likely) benign	1 lab	1bfaef7100
X:48762547 SLC35A2 G>A	X	48762547	48762547	G	A	SLC35A2	c.723C>T	NM_001282651.2	NP_001269580.1:p.(Ser241=)	NC_000023.10:g.48762547G>A	(Likely) benign	1 lab	1b3afc7db4
1:200613555 DDX59 G>A	1	200613555	200613555	G	A	DDX59	c.1687C>T	NM_001031725.6	NP_001026895.2:p.(Arg563Ter)	NC_000001.10:g.200613555G>A	VUS	1 lab	1bfcaacfe7
19:15285044 NOTCH3 A>G	19	15285044	15285044	A	G	NOTCH3	c.4571T>C	NM_000435.3	NP_000426.2:p.(Leu1524Pro)	NC_000019.9:g.15285044A>G	VUS	1 lab	1bfeb5daad
11:57571243 CTNND1 A>T	11	57571243	57571243	A	T	CTNND1	c.1571A>T	NM_001085458.2	NP_001078927.1:p.(Glu524Val)	NC_000011.9:g.57571243A>T	(Likely) benign	1 lab	1bff836006
16:2814587 SRRM2 A>C	16	2814587	2814587	A	C	SRRM2	c.4058A>C	NM_016333.4	NP_057417.3:p.(Glu1353Ala)	NC_000016.9:g.2814587A>C	VUS	1 lab	1c00f7dc80
X:8138641 VCX2 G>C	X	8138641	8138641	G	C	VCX2	c.44C>G	NM_016378.3	NP_057462.2:p.(Thr15Arg)	NC_000023.10:g.8138641G>C	(Likely) benign	1 lab	1c025c83f0
19:18255980 MAST3 C>T	19	18255980	18255980	C	T	MAST3	c.2980C>T	NM_001393504.1	NP_001380433.1:p.(Arg994Trp)	NC_000019.9:g.18255980C>T	(Likely) benign	1 lab	1c02ec7eaf
2:47279009 TTC7A G>T	2	47279009	47279009	G	T	TTC7A	c.2142G>T	NM_020458.4	NP_065191.2:p.(Trp714Cys)	NC_000002.11:g.47279009G>T	VUS	1 lab	1c0360f9a2
2:233272049 ALPG G>T	2	233272049	233272049	G	T	ALPG	c.238G>T	NM_031313.3	NP_112603.2:p.(Asp80Tyr)	NC_000002.11:g.233272049G>T	VUS	1 lab	1c03b72fb3
6:157100554 ARID1B T>C	6	157100554	157100554	T	C	ARID1B	c.1740T>C	NM_001374828.1	NP_001361757.1:p.(Ser580=)	NC_000006.11:g.157100554T>C	(Likely) benign	1 lab	1c04d9f400
21:47809254 PCNT C>T	21	47809254	47809254	C	T	PCNT	c.3748C>T	NM_006031.6	NP_006022.3:p.(Arg1250Trp)	NC_000021.8:g.47809254C>T	(Likely) benign	1 lab	1c075ebf87
22:41513689 EP300 C>T	22	41513689	41513689	C	T	EP300	c.593C>T	NM_001429.4	NP_001420.2:p.(Ala198Val)	NC_000022.10:g.41513689C>T	VUS	1 lab	1c08248421
1:108679366 SLC25A24 G>A	1	108679366	108679366	G	A	SLC25A24	c.1343C>T	NM_013386.5	NP_037518.3:p.(Thr448Ile)	NC_000001.10:g.108679366G>A	VUS	1 lab	1c098ad199
12:120653362 PXN C>G	12	120653362	120653362	C	G	PXN	c.2403+1G>C	NM_001385981.1	NP_001372910.1:p.?	NC_000012.11:g.120653362C>G	VUS	1 lab	1c0a761b1d
4:94377007 GRID2 G>A	4	94377007	94377007	G	A	GRID2	c.1740G>A	NM_001510.4	NP_001501.2:p.(Val580=)	NC_000004.11:g.94377007G>A	VUS	1 lab	1c0b8db506
8:61761072 CHD7 A>C	8	61761072	61761072	A	C	CHD7	c.5211-2A>C	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61761072A>C	(Likely) pathogenic	1 lab	1c0bc7aeda
22:26400684 MYO18B G>A	22	26400684	26400684	G	A	MYO18B	c.6333G>A	NM_032608.7	NP_115997.5:p.(Met2111Ile)	NC_000022.10:g.26400684G>A	VUS	1 lab	1c0d1ea979
X:109697136 RTL9 C>G	X	109697136	109697136	C	G	RTL9	c.3291C>G	NM_001385449.1	NP_001372378.1:p.(Ile1097Met)	NC_000023.10:g.109697136C>G	VUS	1 lab	1c0d445d19
17:1577859 PRPF8 C>A	17	1577859	1577859	C	A	PRPF8	c.3176G>T	NM_006445.4	NP_006436.3:p.(Ser1059Ile)	NC_000017.10:g.1577859C>A	VUS	1 lab	1c0dd07623
12:49425943 KMT2D C>A	12	49425943	49425943	C	A	KMT2D	c.12545G>T	NM_003482.4	NP_003473.3:p.(Gly4182Val)	NC_000012.11:g.49425943C>A	VUS	1 lab	1c1012805b
22:32487586 SLC5A1 CCTT>C	22	32487586	32487591	CCTT	C	SLC5A1	c.1130-10_1130-8del	NM_000343.4	NP_000334.1:p.?	NC_000022.10:g.32487589_32487591del	(Likely) benign	1 lab	1c12e4213b
5:38458464 EGFLAM C>T	5	38458464	38458464	C	T	EGFLAM	c.2739C>T	NM_152403.4	NP_689616.2:p.(Asn913=)	NC_000005.9:g.38458464C>T	(Likely) benign	1 lab	1c138c17f8
11:118939941 VPS11 C>CT	11	118939941	118939942	C	CT	VPS11	c.223C>T	NM_021729.6	NP_068375.3:p.(Leu75=)	NC_000011.9:g.118939942dup	VUS	1 lab	1c14c74a82
3:9057365 SRGAP3 C>T	3	9057365	9057365	C	T	SRGAP3	c.1729G>A	NM_014850.4	NP_055665.1:p.(Ala577Thr)	NC_000003.11:g.9057365C>T	VUS	1 lab	1c15e88555
9:18721572 ADAMTSL1 A>T	9	18721572	18721572	A	T	ADAMTSL1	c.1915A>T	NM_001040272.6	NP_001035362.3:p.(Thr639Ser)	NC_000009.11:g.18721572A>T	(Likely) benign	1 lab	1c18c49427
20:60888510 LAMA5 G>A	20	60888510	60888510	G	A	LAMA5	c.8665C>T	NM_005560.6	NP_005551.3:p.(Pro2889Ser)	NC_000020.10:g.60888510G>A	(Likely) benign	1 lab	1c1a18d740
17:8045714 PER1 C>T	17	8045714	8045714	C	T	PER1	c.3322G>A	NM_002616.3	NP_002607.2:p.(Ala1108Thr)	NC_000017.10:g.8045714C>T	(Likely) benign	1 lab	1c1ab792f4
13:111077142 COL4A2 C>G	13	111077142	111077142	C	G	COL4A2	c.242C>G	NM_001846.4	NP_001837.2:p.(Pro81Arg)	NC_000013.10:g.111077142C>G	VUS	1 lab	1c1b1fd158
21:43242253 PRDM15 C>T	21	43242253	43242253	C	T	PRDM15	c.1896+6G>A	NM_001040424.3	NP_001035514.2:p.?	NC_000021.8:g.43242253C>T	(Likely) benign	1 lab	1c1b83fc26
11:16117556 SOX6 G>A	11	16117556	16117556	G	A	SOX6	c.1087C>T	NM_001367873.1	NP_001354802.1:p.(His363Tyr)	NC_000011.9:g.16117556G>A	(Likely) benign	1 lab	1c30066c78
8:145579954 FBXL6 G>GGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	8	145579954	145579955	G	GGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	FBXL6	c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGC	NM_012162.4	NP_036294.2:p.?	NC_000008.10:g.145579954_145579955insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA	(Likely) benign	1 lab	1c1bbb5a9b
X:82764263 POU3F4 C>G	X	82764263	82764263	C	G	POU3F4	c.931C>G	NM_000307.5	NP_000298.3:p.(Leu311Val)	NC_000023.10:g.82764263C>G	VUS	1 lab	1c1d4e6bde
5:74464842 ANKRD31 T>C	5	74464842	74464842	T	C	ANKRD31	c.1669A>G	NM_001372053.1	NP_001358982.1:p.(Thr557Ala)	NC_000005.9:g.74464842T>C	VUS	1 lab	1c1d56e1b4
11:35313943 SLC1A2 C>T	11	35313943	35313943	C	T	SLC1A2	c.982G>A	NM_004171.4	NP_004162.2:p.(Gly328Arg)	NC_000011.9:g.35313943C>T	VUS	1 lab	1c22101620
11:64034960 PLCB3 G>A	11	64034960	64034960	G	A	PLCB3	c.3637G>A	NM_000932.5	NP_000923.1:p.(Ala1213Thr)	NC_000011.9:g.64034960G>A	(Likely) benign	1 lab	1c22e97eb7
18:31325889 ASXL3 CTCCACCCTTGGCTTTGCCCCCGCCT>C	18	31325889	31325914	CTCCACCCTTGGCTTTGCCCCCGCCT	C	ASXL3	c.6078_6102del	NM_030632.3	NP_085135.1:p.(Leu2029HisfsTer43)	NC_000018.9:g.31325890_31325914del	(Likely) benign	1 lab	1c241677c9
8:100520050 VPS13B TGTA>T	8	100520050	100520053	TGTA	T	VPS13B	c.4224+620_4224+622del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100520051_100520053del	VUS	1 lab	1c2468773d
10:72513707 ADAMTS14 C>T	10	72513707	72513707	C	T	ADAMTS14	c.2881C>T	NM_080722.4	NP_542453.2:p.(Arg961Trp)	NC_000010.10:g.72513707C>T	VUS	1 lab	1c24ec1785
20:42275607 IFT52 T>G	20	42275607	42275607	T	G	IFT52	c.1298T>G	NM_016004.5	NP_057088.2:p.(Phe433Cys)	NC_000020.10:g.42275607T>G	VUS	1 lab	1c2743568d
3:10146064 FANCD2OS C>G	3	10146064	10146064	C	G	FANCD2OS	c.395G>C	NM_001164839.2	NP_001158311.1:p.(Arg132Thr)	NC_000003.11:g.10146064C>G	VUS	1 lab	1c2b71131c
X:84526727 ZNF711 C>T	X	84526727	84526727	C	T	ZNF711	c.2317C>T	NM_001330574.2	NP_001317503.1:p.(His773Tyr)	NC_000023.10:g.84526727C>T	(Likely) pathogenic	1 lab	1c2d44f17b
2:191864336 STAT1 A>G	2	191864336	191864336	A	G	STAT1	c.541+16T>C	NM_007315.3	NP_009330.1:p.?	NC_000002.11:g.191864336A>G	(Likely) benign	1 lab	1b3b631f66
9:86587767 HNRNPK T>C	9	86587767	86587767	T	C	HNRNPK	c.637A>G	NM_031263.4	NP_112553.1:p.(Ile213Val)	NC_000009.11:g.86587767T>C	(Likely) benign	1 lab	1c2f858dcd
11:108549086 DDX10 C>T	11	108549086	108549086	C	T	DDX10	c.582C>T	NM_004398.4	NP_004389.2:p.(Leu194=)	NC_000011.9:g.108549086C>T	(Likely) benign	1 lab	1c30d3551c
19:47987412 KPTN C>T	19	47987412	47987412	C	T	KPTN	c.6G>A	NM_007059.4	NP_008990.2:p.(Met2Ile)	NC_000019.9:g.47987412C>T	VUS	1 lab	1b262ee162
15:89402559 ACAN C>T	15	89402559	89402559	C	T	ACAN	c.6743C>T	NM_001369268.1	NP_001356197.1:p.(Thr2248Ile)	NC_000015.9:g.89402559C>T	VUS	1 lab	1c34539c2d
12:49579770 TUBA1A C>T	12	49579770	49579770	C	T	TUBA1A	c.379G>A	NM_006009.4	NP_006000.2:p.(Asp127Asn)	NC_000012.11:g.49579770C>T	VUS	1 lab	1c3508b243
2:242012735 SNED1 G>A	2	242012735	242012735	G	A	SNED1	c.3872G>A	NM_001080437.3	NP_001073906.1:p.(Ser1291Asn)	NC_000002.11:g.242012735G>A	VUS	1 lab	1c3716b6b8
2:241895328 CROCC2 G>C	2	241895328	241895328	G	C	CROCC2	c.2882G>C	NM_001351305.2	NP_001338234.1:p.(Arg961Thr)	NC_000002.11:g.241895328G>C	(Likely) benign	1 lab	1c373e5923
11:9225553 DENND5A G>C	11	9225553	9225553	G	C	DENND5A	c.603C>G	NM_015213.4	NP_056028.2:p.(Leu201=)	NC_000011.9:g.9225553G>C	VUS	1 lab	1c37501687
19:15271507 NOTCH3 G>A	19	15271507	15271507	G	A	NOTCH3	c.6932C>T	NM_000435.3	NP_000426.2:p.(Pro2311Leu)	NC_000019.9:g.15271507G>A	VUS	1 lab	1c3eb5bc69
6:152647740 SYNE1 C>T	6	152647740	152647740	C	T	SYNE1	c.14984G>A	NM_182961.4	NP_892006.3:p.(Cys4995Tyr)	NC_000006.11:g.152647740C>T	VUS	1 lab	1c3f7b21bb
1:43220642 P3H1 C>T	1	43220642	43220642	C	T	P3H1	c.1243G>A	NM_022356.4	NP_071751.3:p.(Val415Ile)	NC_000001.10:g.43220642C>T	(Likely) benign	1 lab	1c404ed48a
12:103232705 PAH T>C	12	103232705	103232705	T	C	PAH	c.*248A>G	NM_000277.3	NP_000268.1:p.?	NC_000012.11:g.103232705T>C	VUS	1 lab	1c40de64a8
22:42607338 TCF20 C>T	22	42607338	42607338	C	T	TCF20	c.3974G>A	NM_001378418.1	NP_001365347.1:p.(Ser1325Asn)	NC_000022.10:g.42607338C>T	(Likely) benign	1 lab	1c442170ac
2:74273843 TET3 A>T	2	74273843	74273843	A	T	TET3	c.799A>T	NM_001287491.2	NP_001274420.1:p.(Met267Leu)	NC_000002.11:g.74273843A>T	VUS	1 lab	1c448f778f
X:118109164 LONRF3 A>G	X	118109164	118109164	A	G	LONRF3	c.421A>G	NM_001031855.3	NP_001027026.1:p.(Thr141Ala)	NC_000023.10:g.118109164A>G	(Likely) benign	1 lab	1c44aa06cd
5:156590154 GARIN3 C>T	5	156590154	156590154	C	T	GARIN3	c.1122G>A	NM_130899.3	NP_570969.2:p.(Ala374=)	NC_000005.9:g.156590154C>T	(Likely) benign	1 lab	1c45f5273b
11:89028445 TYR C>T	11	89028445	89028445	C	T	TYR	c.1501C>T	NM_000372.5	NP_000363.1:p.(Arg501Cys)	NC_000011.9:g.89028445C>T	VUS	1 lab	1c47f59f38
3:7721755 GRM7 C>T	3	7721755	7721755	C	T	GRM7	c.2471C>T	NM_000844.4	NP_000835.1:p.(Thr824Met)	NC_000003.11:g.7721755C>T	VUS	1 lab	1c47f874e9
8:72184094 EYA1 C>A	8	72184094	72184094	C	A	EYA1	c.865G>T	NM_000503.6	NP_000494.2:p.(Asp289Tyr)	NC_000008.10:g.72184094C>A	(Likely) benign	1 lab	1c4a00f57b
X:32383315 DMD G>C	X	32383315	32383315	G	C	DMD	c.4847C>G	NM_004006.3	NP_003997.2:p.(Ala1616Gly)	NC_000023.10:g.32383315G>C	VUS	1 lab	1c4a0f6c9d
18:42643564 SETBP1 A>ACAGCAGTCGCCCCCG	18	42643564	42643585	A	ACAGCAGTCGCCCCCG	SETBP1	c.4699_4713dup	NM_015559.3	NP_056374.2:p.(Ser1567_Gln1571dup)	NC_000018.9:g.42643571_42643585dup	VUS	1 lab	1c4bf7b864
12:124235669 ATP6V0A2 A>G	12	124235669	124235669	A	G	ATP6V0A2	c.1948A>G	NM_012463.4	NP_036595.2:p.(Arg650Gly)	NC_000012.11:g.124235669A>G	VUS	1 lab	1c4c3d5f59
7:40027246 CDK13 A>G	7	40027246	40027246	A	G	CDK13	c.1260A>G	NM_003718.5	NP_003709.3:p.(Ser420=)	NC_000007.13:g.40027246A>G	(Likely) benign	1 lab	1c4d840f8a
9:140611380 EHMT1 C>G	9	140611380	140611380	C	G	EHMT1	c.388C>G	NM_024757.5	NP_079033.4:p.(Pro130Ala)	NC_000009.11:g.140611380C>G	(Likely) benign	1 lab	1c4d8c650c
3:127786905 SEC61A1 G>A	3	127786905	127786905	G	A	SEC61A1	c.1244+3G>A	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127786905G>A	(Likely) benign	1 lab	1c4ddd8cf8
4:39236461 WDR19 A>G	4	39236461	39236461	A	G	WDR19	c.2329A>G	NM_025132.4	NP_079408.3:p.(Ile777Val)	NC_000004.11:g.39236461A>G	VUS	1 lab	1c4e199577
3:47045405 NBEAL2 G>T	3	47045405	47045405	G	T	NBEAL2	c.5820G>T	NM_015175.3	NP_055990.1:p.(Glu1940Asp)	NC_000003.11:g.47045405G>T	(Likely) benign	1 lab	1c4e3e8ef9
1:110603669 ALX3 AAG>A	1	110603669	110603675	AAG	A	ALX3	c.724-8_724-7del	NM_006492.3	NP_006483.2:p.?	NC_000001.10:g.110603674_110603675del	(Likely) benign	1 lab	1c4f0cd5c8
X:23018283 DDX53 G>A	X	23018283	23018283	G	A	DDX53	c.109G>A	NM_182699.4	NP_874358.2:p.(Gly37Ser)	NC_000023.10:g.23018283G>A	(Likely) benign	1 lab	1c503c2754
11:102822821 MMP13 A>T	11	102822821	102822821	A	T	MMP13	c.719T>A	NM_002427.4	NP_002418.1:p.(Met240Lys)	NC_000011.9:g.102822821A>T	VUS	1 lab	1c51858257
16:2162972 PKD1 G>C	16	2162972	2162972	G	C	PKD1	c.2986-8C>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2162972G>C	(Likely) benign	1 lab	1c523580b3
X:123518274 TENM1 A>C	X	123518274	123518274	A	C	TENM1	c.6507T>G	NM_001163278.2	NP_001156750.1:p.(Val2169=)	NC_000023.10:g.123518274A>C	(Likely) benign	1 lab	1c52826507
2:43768343 THADA C>T	2	43768343	43768343	C	T	THADA	c.3219G>A	NM_022065.5	NP_071348.3:p.(Met1073Ile)	NC_000002.11:g.43768343C>T	VUS	1 lab	1c529bd90f
12:56572600 SMARCC2 C>T	12	56572600	56572600	C	T	SMARCC2	c.1173G>A	NM_001330288.2	NP_001317217.1:p.(Thr391=)	NC_000012.11:g.56572600C>T	VUS	1 lab	1c534c0154
1:200843127 GPR25 G>C	1	200843127	200843127	G	C	GPR25	c.962G>C	NM_005298.4	NP_005289.2:p.(Gly321Ala)	NC_000001.10:g.200843127G>C	(Likely) benign	1 lab	1c53cb9a9a
13:100634901 ZIC2 C>T	13	100634901	100634901	C	T	ZIC2	c.583C>T	NM_007129.5	NP_009060.2:p.(Arg195Cys)	NC_000013.10:g.100634901C>T	VUS	1 lab	1c5430d9f5
10:135107211 TUBGCP2 C>T	10	135107211	135107211	C	T	TUBGCP2	c.679G>A	NM_006659.4	NP_006650.1:p.(Gly227Ser)	NC_000010.10:g.135107211C>T	VUS	1 lab	1c54dc5e4e
14:92537379 ATXN3 T>TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	14	92537379	92537380	T	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	ATXN3	c.890_891insGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer37)	NC_000014.8:g.92537379_92537380insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	VUS	1 lab	1c552c91e1
X:153594976 FLNA C>T	X	153594976	153594976	C	T	FLNA	c.1019G>A	NM_001110556.2	NP_001104026.1:p.(Arg340His)	NC_000023.10:g.153594976C>T	VUS	1 lab	1b2703d6d0
4:46391237 GABRA2 T>G	4	46391237	46391237	T	G	GABRA2	c.-10-504A>C	NM_000807.4	NP_000798.2:p.?	NC_000004.11:g.46391237T>G	VUS	1 lab	1c57f287c1
4:17493854 QDPR C>T	4	17493854	17493854	C	T	QDPR	c.545+1G>A	NM_000320.3	NP_000311.2:p.?	NC_000004.11:g.17493854C>T	(Likely) pathogenic	1 lab	1b3e080829
1:12353621 VPS13D A>T	1	12353621	12353621	A	T	VPS13D	c.5893A>T	NM_015378.4	NP_056193.2:p.(Ile1965Phe)	NC_000001.10:g.12353621A>T	VUS	1 lab	1b27ee0dd8
20:50310554 ATP9A G>A	20	50310554	50310554	G	A	ATP9A	c.635C>T	NM_006045.3	NP_006036.1:p.(Thr212Met)	NC_000020.10:g.50310554G>A	VUS	1 lab	1c59486f64
12:125465269 DHX37 ACTCCTC>A	12	125465269	125465296	ACTCCTC	A	DHX37	c.499_504del	NM_032656.4	NP_116045.2:p.(Glu167_Glu168del)	NC_000012.11:g.125465291_125465296del	VUS	1 lab	1c59770215
X:131212428 FRMD7 T>G	X	131212428	131212428	T	G	FRMD7	c.1617A>C	NM_194277.3	NP_919253.1:p.(Arg539Ser)	NC_000023.10:g.131212428T>G	VUS	1 lab	1c5b12e849
11:78489658 TENM4 C>T	11	78489658	78489658	C	T	TENM4	c.2381G>A	NM_001098816.3	NP_001092286.2:p.(Arg794Lys)	NC_000011.9:g.78489658C>T	(Likely) benign	1 lab	1c5cd60e98
19:55087567 LILRA2 G>A	19	55087567	55087567	G	A	LILRA2	c.1246G>A	NM_001130917.3	NP_001124389.2:p.(Val416Met)	NC_000019.9:g.55087567G>A	(Likely) benign	1 lab	1c5da9b147
8:144998626 PLEC G>A	8	144998626	144998626	G	A	PLEC	c.5471C>T	NM_201384.3	NP_958786.1:p.(Ala1824Val)	NC_000008.10:g.144998626G>A	(Likely) benign	1 lab	1c5dd5c906
2:10925057 ATP6V1C2 C>T	2	10925057	10925057	C	T	ATP6V1C2	c.*1668C>T	NM_001039362.2	NP_001034451.1:p.?	NC_000002.11:g.10925057C>T	(Likely) benign	1 lab	1c5f2a3ee2
9:35793891 NPR2 C>A	9	35793891	35793891	C	A	NPR2	c.668-4C>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35793891C>A	(Likely) benign	1 lab	1c6276da81
6:129785448 LAMA2 G>C	6	129785448	129785448	G	C	LAMA2	c.7006G>C	NM_000426.4	NP_000417.3:p.(Asp2336His)	NC_000006.11:g.129785448G>C	VUS	1 lab	1c62aa013e
19:14029544 CC2D1A CCT>C	19	14029544	14029550	CCT	C	CC2D1A	c.947-10_947-9del	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14029549_14029550del	VUS	1 lab	1c62d9dd21
12:106751713 POLR3B C>G	12	106751713	106751713	C	G	POLR3B	c.56C>G	NM_018082.6	NP_060552.4:p.(Pro19Arg)	NC_000012.11:g.106751713C>G	VUS	1 lab	1c6501ab39
1:22161419 HSPG2 G>A	1	22161419	22161419	G	A	HSPG2	c.10473C>T	NM_005529.7	NP_005520.4:p.(Ile3491=)	NC_000001.10:g.22161419G>A	VUS	1 lab	1c662dbd3d
5:140187217 PCDHA1 G>C	5	140187217	140187217	G	C	PCDHA1	c.2394+18948G>C	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140187217G>C	VUS	1 lab	1c676c316d
19:20807293 ZNF626 A>G	19	20807293	20807293	A	G	ZNF626	c.1390T>C	NM_001076675.3	NP_001070143.1:p.(Cys464Arg)	NC_000019.9:g.20807293A>G	VUS	1 lab	1c68d2cab8
9:126135658 CRB2 C>T	9	126135658	126135658	C	T	CRB2	c.2848C>T	NM_173689.7	NP_775960.4:p.(Arg950Cys)	NC_000009.11:g.126135658C>T	(Likely) benign	1 lab	1c68ddfd53
22:36697105 MYH9 T>A	22	36697105	36697105	T	A	MYH9	c.2632-2A>T	NM_002473.6	NP_002464.1:p.?	NC_000022.10:g.36697105T>A	VUS	1 lab	1c691bc061
7:92731306 SAMD9 A>G	7	92731306	92731306	A	G	SAMD9	c.4105T>C	NM_017654.4	NP_060124.2:p.(Tyr1369His)	NC_000007.13:g.92731306A>G	VUS	1 lab	1c691f7504
12:48369159 COL2A1 C>T	12	48369159	48369159	C	T	COL2A1	c.3827G>A	NM_001844.5	NP_001835.3:p.(Arg1276His)	NC_000012.11:g.48369159C>T	VUS	1 lab	1c692581ff
2:100170953 AFF3 C>A	2	100170953	100170953	C	A	AFF3	c.3379G>T	NM_001386135.1	NP_001373064.1:p.(Ala1127Ser)	NC_000002.11:g.100170953C>A	VUS	1 lab	1c699b9d9f
7:44190692 GCK T>C	7	44190692	44190692	T	C	GCK	c.364-18A>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44190692T>C	(Likely) benign	1 lab	1c69cd6a11
18:11886988 MPPE1 AT>A	18	11886988	11886989	AT	A	MPPE1	c.605del	NM_023075.6	NP_075563.3:p.(Asp202ValfsTer20)	NC_000018.9:g.11886989del	VUS	1 lab	1c6a927971
16:89348808 ANKRD11 T>G	16	89348808	89348808	T	G	ANKRD11	c.4142A>C	NM_013275.6	NP_037407.4:p.(Lys1381Thr)	NC_000016.9:g.89348808T>G	(Likely) benign	1 lab	1c6a97ea5a
9:73152090 TRPM3 G>A	9	73152090	73152090	G	A	TRPM3	c.3939C>T	NM_001366145.2	NP_001353074.1:p.(Phe1313=)	NC_000009.11:g.73152090G>A	(Likely) benign	1 lab	1c6c02e078
7:158485582 NCAPG2 C>T	7	158485582	158485582	C	T	NCAPG2	c.334G>A	NM_017760.7	NP_060230.5:p.(Glu112Lys)	NC_000007.13:g.158485582C>T	VUS	1 lab	1c6c63dbc7
5:13776553 DNAH5 A>G	5	13776553	13776553	A	G	DNAH5	c.9368T>C	NM_001369.3	NP_001360.1:p.(Val3123Ala)	NC_000005.9:g.13776553A>G	VUS	1 lab	1c6ceb03ab
11:89073269 NOX4 G>A	11	89073269	89073269	G	A	NOX4	c.1408C>T	NM_016931.5	NP_058627.2:p.(Arg470Cys)	NC_000011.9:g.89073269G>A	(Likely) benign	1 lab	1c73005fbc
14:31598314 HECTD1 A>T	14	31598314	31598314	A	T	HECTD1	c.4263T>A	NM_015382.4	NP_056197.3:p.(Asp1421Glu)	NC_000014.8:g.31598314A>T	VUS	1 lab	1c736b819e
2:220435101 OBSL1 G>T	2	220435101	220435101	G	T	OBSL1	c.854C>A	NM_015311.3	NP_056126.1:p.(Pro285Gln)	NC_000002.11:g.220435101G>T	VUS	1 lab	1c73c7459c
2:220079686 ABCB6 G>C	2	220079686	220079686	G	C	ABCB6	c.1273C>G	NM_005689.4	NP_005680.1:p.(Leu425Val)	NC_000002.11:g.220079686G>C	(Likely) benign	1 lab	1c7482d449
5:118861606 HSD17B4 T>C	5	118861606	118861606	T	C	HSD17B4	c.1574-6T>C	NM_000414.4	NP_000405.1:p.?	NC_000005.9:g.118861606T>C	VUS	1 lab	1c7582d6cb
16:1823389 EME2 CG>C	16	1823389	1823392	CG	C	EME2	c.164del	NM_001257370.2	NP_001244299.1:p.(Gly55ValfsTer19)	NC_000016.9:g.1823392del	VUS	1 lab	1c75fecee0
12:49443769 KMT2D T>G	12	49443769	49443769	T	G	KMT2D	c.3602A>C	NM_003482.4	NP_003473.3:p.(Lys1201Thr)	NC_000012.11:g.49443769T>G	VUS	1 lab	1c793e00fd
2:179455980 TTN C>T	2	179455980	179455980	C	T	TTN	c.60472G>A	NM_001267550.1	NP_001254479.1:p.(Gly20158Ser)	NC_000002.11:g.179455980C>T	VUS	1 lab	1b445bf5b4
1:240371065 FMN2 G>A	1	240371065	240371065	G	A	FMN2	c.2953G>A	NM_020066.5	NP_064450.3:p.(Gly985Ser)	NC_000001.10:g.240371065G>A	VUS	1 lab	1c7a319a18
6:117198480 RFX6 G>A	6	117198480	117198480	G	A	RFX6	c.42G>A	NM_173560.4	NP_775831.2:p.(Ala14=)	NC_000006.11:g.117198480G>A	(Likely) benign	1 lab	1c7a3c6c9e
10:96005974 PLCE1 A>G	10	96005974	96005974	A	G	PLCE1	c.2692A>G	NM_016341.4	NP_057425.3:p.(Thr898Ala)	NC_000010.10:g.96005974A>G	(Likely) benign	1 lab	1c7a910cf0
22:41574128 EP300 C>T	22	41574128	41574128	C	T	EP300	c.6413C>T	NM_001429.4	NP_001420.2:p.(Ala2138Val)	NC_000022.10:g.41574128C>T	(Likely) benign	1 lab	1c7c350e99
7:120770355 CPED1 T>C	7	120770355	120770355	T	C	CPED1	c.1577+7T>C	NM_024913.5	NP_079189.4:p.?	NC_000007.13:g.120770355T>C	(Likely) benign	1 lab	1c7c596e3e
17:70117842 SOX9 C>T	17	70117842	70117842	C	T	SOX9	c.310C>T	NM_000346.4	NP_000337.1:p.(His104Tyr)	NC_000017.10:g.70117842C>T	VUS	1 lab	1c7dee7243
4:15709156 BST1 A>G	4	15709156	15709156	A	G	BST1	c.338A>G	NM_004334.3	NP_004325.2:p.(His113Arg)	NC_000004.11:g.15709156A>G	(Likely) benign	1 lab	1c81754b26
21:27423376 APP G>A	21	27423376	27423376	G	A	APP	c.602C>T	NM_000484.4	NP_000475.1:p.(Ala201Val)	NC_000021.8:g.27423376G>A	(Likely) benign	1 lab	1c82cd943d
1:63008318 DOCK7 T>A	1	63008318	63008318	T	A	DOCK7	c.3006A>T	NM_001367561.1	NP_001354490.1:p.(Glu1002Asp)	NC_000001.10:g.63008318T>A	(Likely) benign	1 lab	1c83c70000
22:32017090 PISD G>A	22	32017090	32017090	G	A	PISD	c.736C>T	NM_001326411.2	NP_001313340.1:p.(Arg246Trp)	NC_000022.10:g.32017090G>A	VUS	1 lab	1c8413c144
19:17837242 MAP1S G>A	19	17837242	17837242	G	A	MAP1S	c.1049G>A	NM_018174.6	NP_060644.4:p.(Arg350His)	NC_000019.9:g.17837242G>A	VUS	1 lab	1c86cce199
19:15311681 NOTCH3 A>ACGGCGG	19	15311681	15311697	A	ACGGCGG	NOTCH3	c.30_35dup	NM_000435.3	NP_000426.2:p.(Arg12_Arg13dup)	NC_000019.9:g.15311692_15311697dup	VUS	1 lab	1c879731af
11:17553073 USH1C C>T	11	17553073	17553073	C	T	USH1C	c.121G>A	NM_153676.4	NP_710142.1:p.(Val41Met)	NC_000011.9:g.17553073C>T	VUS	1 lab	1c883bf2e8
17:16075192 NCOR1 C>A	17	16075192	16075192	C	A	NCOR1	c.360G>T	NM_006311.4	NP_006302.2:p.(Gln120His)	NC_000017.10:g.16075192C>A	VUS	1 lab	1c8b218280
3:51749818 GRM2 G>A	3	51749818	51749818	G	A	GRM2	c.2029G>A	NM_000839.5	NP_000830.2:p.(Ala677Thr)	NC_000003.11:g.51749818G>A	(Likely) benign	1 lab	1c8db4a95f
2:149240765 MBD5 G>T	2	149240765	149240765	G	T	MBD5	c.2605G>T	NM_001378120.1	NP_001365049.1:p.(Val869Phe)	NC_000002.11:g.149240765G>T	VUS	1 lab	1c90a01775
1:63862196 ALG6 C>T	1	63862196	63862196	C	T	ALG6	c.95C>T	NM_013339.4	NP_037471.2:p.(Pro32Leu)	NC_000001.10:g.63862196C>T	VUS	1 lab	1c90becdfa
19:18900861 COMP C>T	19	18900861	18900861	C	T	COMP	c.280G>A	NM_000095.3	NP_000086.2:p.(Gly94Ser)	NC_000019.9:g.18900861C>T	VUS	1 lab	1c924e70ea
15:76726658 SCAPER G>A	15	76726658	76726658	G	A	SCAPER	c.3079-7C>T	NM_020843.4	NP_065894.2:p.?	NC_000015.9:g.76726658G>A	(Likely) benign	1 lab	1c95b108c9
6:70034824 ADGRB3 G>A	6	70034824	70034824	G	A	ADGRB3	c.2875G>A	NM_001704.3	NP_001695.2:p.(Val959Ile)	NC_000006.11:g.70034824G>A	VUS	1 lab	1c95fa5db2
15:84611805 ADAMTSL3 C>T	15	84611805	84611805	C	T	ADAMTSL3	c.2461C>T	NM_207517.3	NP_997400.2:p.(Pro821Ser)	NC_000015.9:g.84611805C>T	(Likely) benign	1 lab	1c96185af8
19:34934956 UBA2 T>TGG	19	34934956	34934957	T	TGG	UBA2	c.649+140_649+141insGG	NM_005499.3	NP_005490.1:p.?	NC_000019.9:g.34934956_34934957insGG	(Likely) benign	1 lab	1c96c2ccc4
20:44515335 SPATA25 C>T	20	44515335	44515335	C	T	SPATA25	c.505G>A	NM_080608.4	NP_542175.1:p.(Val169Ile)	NC_000020.10:g.44515335C>T	(Likely) benign	1 lab	1c96c5c1f8
3:101284722 TRMT10C A>G	3	101284722	101284722	A	G	TRMT10C	c.1097A>G	NM_017819.4	NP_060289.2:p.(Asn366Ser)	NC_000003.11:g.101284722A>G	VUS	1 lab	1ca8280a74
2:216257894 FN1 C>G	2	216257894	216257894	C	G	FN1	c.3829G>C	NM_212482.4	NP_997647.2:p.(Asp1277His)	NC_000002.11:g.216257894C>G	VUS	1 lab	1c998beeb6
X:55757892 RRAGB G>A	X	55757892	55757892	G	A	RRAGB	c.389G>A	NM_006064.5	NP_006055.3:p.(Arg130His)	NC_000023.10:g.55757892G>A	(Likely) benign	1 lab	1c9a8c6853
11:68773080 MRGPRF C>A	11	68773080	68773080	C	A	MRGPRF	c.698G>T	NM_145015.5	NP_659452.3:p.(Arg233Leu)	NC_000011.9:g.68773080C>A	VUS	1 lab	1c9c373a97
7:30728880 CRHR2 C>T	7	30728880	30728880	C	T	CRHR2	c.111G>A	NM_001202475.1	NP_001189404.1:p.(Met37Ile)	NC_000007.13:g.30728880C>T	(Likely) benign	1 lab	1b4a1351e6
X:84569437 POF1B C>G	X	84569437	84569437	C	G	POF1B	c.957+1G>C	NM_024921.4	NP_079197.3:p.?	NC_000023.10:g.84569437C>G	VUS	1 lab	1c9d5d1011
1:197070045 ASPM C>T	1	197070045	197070045	C	T	ASPM	c.8336G>A	NM_018136.5	NP_060606.3:p.(Arg2779Lys)	NC_000001.10:g.197070045C>T	VUS	1 lab	1c9e994597
X:34149903 FAM47A A>C	X	34149903	34149903	A	C	FAM47A	c.493T>G	NM_203408.4	NP_981953.2:p.(Cys165Gly)	NC_000023.10:g.34149903A>C	VUS	1 lab	1c9ec5ade6
12:12336996 LRP6 C>G	12	12336996	12336996	C	G	LRP6	c.894G>C	NM_002336.3	NP_002327.2:p.(Leu298Phe)	NC_000012.11:g.12336996C>G	VUS	1 lab	1c9f1cf294
19:15288571 NOTCH3 C>A	19	15288571	15288571	C	A	NOTCH3	c.4168G>T	NM_000435.3	NP_000426.2:p.(Ala1390Ser)	NC_000019.9:g.15288571C>A	VUS	1 lab	1ca0fa5645
8:61777723 CHD7 A>T	8	61777723	61777723	A	T	CHD7	c.8225A>T	NM_017780.4	NP_060250.2:p.(Asn2742Ile)	NC_000008.10:g.61777723A>T	VUS	1 lab	1ca1f4645a
21:44838907 SIK1 C>T	21	44838907	44838907	C	T	SIK1	c.1456G>A	NM_173354.5	NP_775490.2:p.(Ala486Thr)	NC_000021.8:g.44838907C>T	(Likely) benign	1 lab	1ca2084857
1:156640658 NES G>C	1	156640658	156640658	G	C	NES	c.3322C>G	NM_006617.2	NP_006608.1:p.(Leu1108Val)	NC_000001.10:g.156640658G>C	(Likely) benign	1 lab	1ca30dd5ff
X:130407876 IGSF1 G>A	X	130407876	130407876	G	A	IGSF1	c.3905C>T	NM_001555.5	NP_001546.2:p.(Thr1302Ile)	NC_000023.10:g.130407876G>A	VUS	1 lab	1ca438c714
16:16205236 ABCC1 A>G	16	16205236	16205236	A	G	ABCC1	c.2876A>G	NM_004996.4	NP_004987.2:p.(Lys959Arg)	NC_000016.9:g.16205236A>G	VUS	1 lab	1ca5a16b4f
7:148543659 EZH2 A>G	7	148543659	148543659	A	G	EZH2	c.149T>C	NM_004456.5	NP_004447.2:p.(Leu50Ser)	NC_000007.13:g.148543659A>G	(Likely) benign	1 lab	1ca5d589c3
15:33359146 FMN1 C>A	15	33359146	33359146	C	A	FMN1	c.2044-1871G>T	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33359146C>A	(Likely) benign	1 lab	1ca8364f1e
19:5220098 PTPRS C>T	19	5220098	5220098	C	T	PTPRS	c.3617G>A	NM_002850.4	NP_002841.3:p.(Arg1206Gln)	NC_000019.9:g.5220098C>T	VUS	1 lab	1cab39f189
8:41573232 ANK1 C>A	8	41573232	41573232	C	A	ANK1	c.1540G>T	NM_000037.4	NP_000028.3:p.(Gly514Cys)	NC_000008.10:g.41573232C>A	VUS	1 lab	1cab752900
1:3670691 CCDC27 A>G	1	3670691	3670691	A	G	CCDC27	c.328A>G	NM_152492.3	NP_689705.2:p.(Lys110Glu)	NC_000001.10:g.3670691A>G	(Likely) benign	1 lab	1cac3f8fe1
12:112308111 MAPKAPK5 A>C	12	112308111	112308111	A	C	MAPKAPK5	c.430A>C	NM_003668.4	NP_003659.2:p.(Ile144Leu)	NC_000012.11:g.112308111A>C	VUS	1 lab	1cad380267
12:90005103 ATP2B1 C>T	12	90005103	90005103	C	T	ATP2B1	c.2114G>A	NM_001366521.1	NP_001353450.1:p.(Arg705Gln)	NC_000012.11:g.90005103C>T	VUS	1 lab	1cad737360
6:7568095 DSP A>C	6	7568095	7568095	A	C	DSP	c.1222A>C	NM_004415.4	NP_004406.2:p.(Asn408His)	NC_000006.11:g.7568095A>C	VUS	1 lab	1cae4b808a
5:141335536 PCDH12 G>C	5	141335536	141335536	G	C	PCDH12	c.1881C>G	NM_016580.4	NP_057664.1:p.(Asp627Glu)	NC_000005.9:g.141335536G>C	VUS	1 lab	1caff54f74
9:131391418 SPTAN1 G>A	9	131391418	131391418	G	A	SPTAN1	c.6722G>A	NM_001363759.2	NP_001350688.1:p.(Arg2241Gln)	NC_000009.11:g.131391418G>A	(Likely) benign	1 lab	1b2c4b0e25
10:73511604 CDH23 A>G	10	73511604	73511604	A	G	CDH23	c.4845+9926A>G	NM_022124.6	NP_071407.4:p.?	NC_000010.10:g.73511604A>G	VUS	1 lab	1cb0ae361b
1:55337160 DHCR24 C>A	1	55337160	55337160	C	A	DHCR24	c.739G>T	NM_014762.4	NP_055577.1:p.(Gly247Cys)	NC_000001.10:g.55337160C>A	VUS	1 lab	1cb0d3b196
20:34775588 EPB41L1 T>C	20	34775588	34775588	T	C	EPB41L1	c.786-10T>C	NM_012156.2	NP_036288.2:p.?	NC_000020.10:g.34775588T>C	(Likely) benign	1 lab	1cb1431c0c
7:70242116 AUTS2 G>A	7	70242116	70242116	G	A	AUTS2	c.1960G>A	NM_015570.4	NP_056385.1:p.(Val654Ile)	NC_000007.13:g.70242116G>A	VUS	1 lab	1cb1703b90
18:3879254 DLGAP1 G>T	18	3879254	3879254	G	T	DLGAP1	c.815C>A	NM_004746.4	NP_004737.2:p.(Pro272Gln)	NC_000018.9:g.3879254G>T	(Likely) benign	1 lab	1cb197f852
19:18896470 COMP A>T	19	18896470	18896470	A	T	COMP	c.1668+13T>A	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18896470A>T	(Likely) benign	1 lab	1cb231ba9e
1:32133237 COL16A1 G>A	1	32133237	32133237	G	A	COL16A1	c.3304-8C>T	NM_001856.4	NP_001847.3:p.?	NC_000001.10:g.32133237G>A	VUS	1 lab	1cb6929ea8
1:245026009 HNRNPU C>T	1	245026009	245026009	C	T	HNRNPU	c.715G>A	NM_031844.3	NP_114032.2:p.(Gly239Ser)	NC_000001.10:g.245026009C>T	(Likely) benign	1 lab	1cb6a1bf49
8:139749792 COL22A1 C>T	8	139749792	139749792	C	T	COL22A1	c.2114G>A	NM_152888.3	NP_690848.1:p.(Gly705Glu)	NC_000008.10:g.139749792C>T	VUS	1 lab	1cb87c7006
8:146076640 COMMD5 C>G	8	146076640	146076640	C	G	COMMD5	c.84G>C	NM_014066.4	NP_054785.2:p.(Gln28His)	NC_000008.10:g.146076640C>G	VUS	1 lab	1cba8c7058
6:133786013 EYA4 T>C	6	133786013	133786013	T	C	EYA4	c.804+17T>C	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133786013T>C	(Likely) benign	1 lab	1b2e34ced1
6:168349150 AFDN G>T	6	168349150	168349150	G	T	AFDN	c.3823G>T	NM_001386888.1	NP_001373817.1:p.(Ala1275Ser)	NC_000006.11:g.168349150G>T	(Likely) benign	1 lab	1cbdf6dccf
10:122630690 WDR11 G>C	10	122630690	122630690	G	C	WDR11	c.1303G>C	NM_018117.12	NP_060587.8:p.(Ala435Pro)	NC_000010.10:g.122630690G>C	VUS	1 lab	1cbf048f29
3:12475454 PPARG A>G	3	12475454	12475454	A	G	PPARG	c.1238A>G	NM_138711.6	NP_619725.3:p.(Gln413Arg)	NC_000003.11:g.12475454A>G	VUS	1 lab	1cc00644e8
X:49958477 AKAP4 C>T	X	49958477	49958477	C	T	AKAP4	c.887G>A	NM_003886.3	NP_003877.2:p.(Gly296Asp)	NC_000023.10:g.49958477C>T	(Likely) benign	1 lab	1cc04a043b
4:1374004 UVSSA C>A	4	1374004	1374004	C	A	UVSSA	c.1738C>A	NM_020894.4	NP_065945.2:p.(Gln580Lys)	NC_000004.11:g.1374004C>A	VUS	1 lab	1cc3261428
20:42252537 IFT52 G>C	20	42252537	42252537	G	C	IFT52	c.775G>C	NM_016004.5	NP_057088.2:p.(Asp259His)	NC_000020.10:g.42252537G>C	VUS	1 lab	1cc33059b3
11:17428923 ABCC8 CAGA>C	11	17428923	17428928	CAGA	C	ABCC8	c.2895_2897del	NM_000352.6	NP_000343.2:p.(Leu966del)	NC_000011.9:g.17428926_17428928del	VUS	1 lab	1cc3a479f5
22:43027374 CYB5R3 C>T	22	43027374	43027374	C	T	CYB5R3	c.226+10G>A	NM_000398.7	NP_000389.1:p.?	NC_000022.10:g.43027374C>T	(Likely) benign	1 lab	1cc63024cc
12:110232294 TRPV4 TAA>T	12	110232294	110232296	TAA	T	TRPV4	c.1333-4_1333-3del	NM_021625.5	NP_067638.3:p.?	NC_000012.11:g.110232295_110232296del	VUS	1 lab	1cc6545dd0
2:197183869 HECW2 G>T	2	197183869	197183869	G	T	HECW2	c.1745C>A	NM_001348768.2	NP_001335697.1:p.(Thr582Lys)	NC_000002.11:g.197183869G>T	(Likely) benign	1 lab	1cc693b0b4
17:78177668 CARD14 G>A	17	78177668	78177668	G	A	CARD14	c.2267G>A	NM_024110.4	NP_077015.2:p.(Cys756Tyr)	NC_000017.10:g.78177668G>A	(Likely) benign	1 lab	1b4aedb1b4
17:41243544 BRCA1 A>G	17	41243544	41243544	A	G	BRCA1	c.4004T>C	NM_007294.4	NP_009225.1:p.(Leu1335Pro)	NC_000017.10:g.41243544A>G	VUS	1 lab	1ccd95c8a0
19:39039022 RYR1 G>C	19	39039022	39039022	G	C	RYR1	c.12244G>C	NM_000540.3	NP_000531.2:p.(Asp4082His)	NC_000019.9:g.39039022G>C	VUS	1 lab	1cce6f6495
8:38271545 FGFR1 C>A	8	38271545	38271545	C	A	FGFR1	c.2187-4G>T	NM_023110.3	NP_075598.2:p.?	NC_000008.10:g.38271545C>A	VUS	1 lab	1cd00710f1
20:60885139 LAMA5 T>TGGAGGGGTAGGAAG	20	60885139	60885142	T	TGGAGGGGTAGGAAG	LAMA5	c.10735-3_10735-2insCTTCCTACCCCTCC	NM_005560.6	NP_005551.3:p.?	NC_000020.10:g.60885141_60885142insAGGGGTAGGAAGGG	(Likely) benign	1 lab	1cd17b0a45
X:7889852 PNPLA4 C>T	X	7889852	7889852	C	T	PNPLA4	c.313G>A	NM_004650.3	NP_004641.1:p.(Glu105Lys)	NC_000023.10:g.7889852C>T	(Likely) benign	1 lab	1cd280bf30
7:103191695 RELN G>C	7	103191695	103191695	G	C	RELN	c.6121C>G	NM_005045.4	NP_005036.2:p.(Leu2041Val)	NC_000007.13:g.103191695G>C	VUS	1 lab	1cd29d42a7
8:140744290 TRAPPC9 C>T	8	140744290	140744290	C	T	TRAPPC9	c.3211G>A	NM_001160372.4	NP_001153844.1:p.(Gly1071Ser)	NC_000008.10:g.140744290C>T	VUS	1 lab	1cd3a05251
2:191941007 STAT4 T>C	2	191941007	191941007	T	C	STAT4	c.318A>G	NM_003151.4	NP_003142.1:p.(Ser106=)	NC_000002.11:g.191941007T>C	(Likely) benign	1 lab	1b4faac0bf
7:117267610 CFTR A>G	7	117267610	117267610	A	G	CFTR	c.3503A>G	NM_000492.4	NP_000483.3:p.(Asp1168Gly)	NC_000007.13:g.117267610A>G	VUS	1 lab	1cd4a1a8d5
16:1573942 IFT140 C>T	16	1573942	1573942	C	T	IFT140	c.3157G>A	NM_014714.4	NP_055529.2:p.(Asp1053Asn)	NC_000016.9:g.1573942C>T	VUS	1 lab	1cd5da52eb
2:32740443 BIRC6 G>A	2	32740443	32740443	G	A	BIRC6	c.10955G>A	NM_016252.4	NP_057336.3:p.(Ser3652Asn)	NC_000002.11:g.32740443G>A	(Likely) benign	1 lab	1cd5feb353
13:75898378 TBC1D4 T>C	13	75898378	75898378	T	C	TBC1D4	c.2193A>G	NM_014832.5	NP_055647.2:p.(Glu731=)	NC_000013.10:g.75898378T>C	(Likely) benign	1 lab	1cd65fb2f3
15:49031404 CEP152 A>G	15	49031404	49031404	A	G	CEP152	c.4175T>C	NM_001194998.2	NP_001181927.1:p.(Ile1392Thr)	NC_000015.9:g.49031404A>G	(Likely) benign	1 lab	1cd83a474b
16:3929856 CREBBP C>T	16	3929856	3929856	C	T	CREBBP	c.62G>A	NM_004380.3	NP_004371.2:p.(Gly21Asp)	NC_000016.9:g.3929856C>T	VUS	1 lab	1cd9f761a6
16:1400112 TSR3 G>A	16	1400112	1400112	G	A	TSR3	c.650C>T	NM_001001410.3	NP_001001410.1:p.(Ala217Val)	NC_000016.9:g.1400112G>A	(Likely) benign	1 lab	1cdaf3234d
2:1915870 MYT1L T>C	2	1915870	1915870	T	C	MYT1L	c.1631A>G	NM_001303052.2	NP_001289981.1:p.(His544Arg)	NC_000002.11:g.1915870T>C	VUS	1 lab	1cdbc4768f
7:107594172 LAMB1 C>T	7	107594172	107594172	C	T	LAMB1	c.2882G>A	NM_002291.3	NP_002282.2:p.(Gly961Glu)	NC_000007.13:g.107594172C>T	VUS	1 lab	1ce080d47b
4:949548 TMEM175 A>G	4	949548	949548	A	G	TMEM175	c.712A>G	NM_032326.4	NP_115702.1:p.(Arg238Gly)	NC_000004.11:g.949548A>G	VUS	1 lab	1ce09f9df8
5:177421173 PROP1 C>G	5	177421173	177421173	C	G	PROP1	c.276G>C	NM_006261.5	NP_006252.4:p.(Gln92His)	NC_000005.9:g.177421173C>G	VUS	1 lab	1ce0af34c8
17:17700490 RAI1 G>A	17	17700490	17700490	G	A	RAI1	c.4228G>A	NM_030665.4	NP_109590.3:p.(Gly1410Ser)	NC_000017.10:g.17700490G>A	VUS	1 lab	1ce0b81a3a
3:148711921 GYG1 G>T	3	148711921	148711921	G	T	GYG1	c.8-8G>T	NM_004130.4	NP_004121.2:p.?	NC_000003.11:g.148711921G>T	(Likely) benign	1 lab	1ce1c253a5
9:14863849 FREM1 C>T	9	14863849	14863849	C	T	FREM1	c.287G>A	NM_001379081.2	NP_001366010.1:p.(Cys96Tyr)	NC_000009.11:g.14863849C>T	VUS	1 lab	1ce20e31ed
16:51173270 SALL1 C>T	16	51173270	51173270	C	T	SALL1	c.2863G>A	NM_002968.3	NP_002959.2:p.(Glu955Lys)	NC_000016.9:g.51173270C>T	(Likely) benign	1 lab	1ce2b0c328
2:217297533 SMARCAL1 G>A	2	217297533	217297533	G	A	SMARCAL1	c.1427G>A	NM_014140.4	NP_054859.2:p.(Arg476Gln)	NC_000002.11:g.217297533G>A	(Likely) benign	1 lab	1ce3abbda6
X:12720127 FRMPD4 C>G	X	12720127	12720127	C	G	FRMPD4	c.1068C>G	NM_001368397.1	NP_001355326.1:p.(Ile356Met)	NC_000023.10:g.12720127C>G	VUS	1 lab	1ce3ccea62
2:71883294 DYSF C>G	2	71883294	71883294	C	G	DYSF	c.4629C>G	NM_001130987.2	NP_001124459.1:p.(Val1543=)	NC_000002.11:g.71883294C>G	(Likely) benign	1 lab	1ce43da219
12:66826633 GRIP1 A>C	12	66826633	66826633	A	C	GRIP1	c.1532-225T>G	NM_021150.4	NP_066973.2:p.?	NC_000012.11:g.66826633A>C	(Likely) benign	1 lab	1b500dde27
9:131398698 DYNC2I2 T>C	9	131398698	131398698	T	C	DYNC2I2	c.565A>G	NM_052844.4	NP_443076.2:p.(Ser189Gly)	NC_000009.11:g.131398698T>C	VUS	1 lab	1ce6af1acb
2:230763427 TRIP12 A>G	2	230763427	230763427	A	G	TRIP12	c.-49-18583T>C	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230763427A>G	(Likely) benign	1 lab	1ce737100f
5:176562402 NSD1 C>A	5	176562402	176562402	C	A	NSD1	c.298C>A	NM_022455.5	NP_071900.2:p.(Pro100Thr)	NC_000005.9:g.176562402C>A	(Likely) benign	1 lab	1ce8d9602e
X:2936700 ARSH A>G	X	2936700	2936700	A	G	ARSH	c.890A>G	NM_001011719.2	NP_001011719.1:p.(Asp297Gly)	NC_000023.10:g.2936700A>G	VUS	1 lab	1ce9dea070
19:45004288 ZNF180 C>T	19	45004288	45004288	C	T	ZNF180	c.-44+39G>A	NM_001278509.3	NP_001265438.2:p.?	NC_000019.9:g.45004288C>T	(Likely) benign	1 lab	1cea8a5863
17:40113424 ODAD4 A>G	17	40113424	40113424	A	G	ODAD4	c.1468A>G	NM_031421.5	NP_113609.1:p.(Ile490Val)	NC_000017.10:g.40113424A>G	VUS	1 lab	1ceb32aa18
1:237052538 MTR T>C	1	237052538	237052538	T	C	MTR	c.2909T>C	NM_000254.3	NP_000245.2:p.(Val970Ala)	NC_000001.10:g.237052538T>C	(Likely) benign	1 lab	1ceb8e79fa
9:14746306 FREM1 T>A	9	14746306	14746306	T	A	FREM1	c.6254+45A>T	NM_144966.5	NP_659403.4:p.?	NC_000009.11:g.14746306T>A	(Likely) benign	1 lab	1b508c8a5d
1:235543465 TBCE G>A	1	235543465	235543465	G	A	TBCE	c.100+1G>A	NM_003193.5	NP_003184.1:p.?	NC_000001.10:g.235543465G>A	(Likely) pathogenic	1 lab	1cec6ad078
17:79634850 CCDC137 GA>G	17	79634850	79634851	GA	G	CCDC137	c.227del	NM_199287.3	NP_954981.1:p.(Glu76GlyfsTer2)	NC_000017.10:g.79634851del	VUS	1 lab	1cf0999e57
20:3732151 HSPA12B C>T	20	3732151	3732151	C	T	HSPA12B	c.1406-7C>T	NM_052970.5	NP_443202.3:p.?	NC_000020.10:g.3732151C>T	(Likely) benign	1 lab	1cf1b5505f
12:14794159 GUCY2C A>G	12	14794159	14794159	A	G	GUCY2C	c.1931-6T>C	NM_004963.4	NP_004954.2:p.?	NC_000012.11:g.14794159A>G	(Likely) benign	1 lab	1cf1efa530
6:42936232 PEX6 G>C	6	42936232	42936232	G	C	PEX6	c.1484C>G	NM_000287.4	NP_000278.3:p.(Pro495Arg)	NC_000006.11:g.42936232G>C	VUS	1 lab	1cf21b41a8
X:105451496 PWWP3B C>T	X	105451496	105451496	C	T	PWWP3B	c.2071C>T	NM_001171020.2	NP_001164491.1:p.(Pro691Ser)	NC_000023.10:g.105451496C>T	(Likely) benign	1 lab	1cf3d5b123
1:84647377 PRKACB A>C	1	84647377	84647377	A	C	PRKACB	c.250-506A>C	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647377A>C	VUS	1 lab	1cf7018dd1
18:19751311 GATA6 C>A	18	19751311	19751311	C	A	GATA6	c.206C>A	NM_005257.6	NP_005248.2:p.(Ala69Glu)	NC_000018.9:g.19751311C>A	VUS	1 lab	1cf8a15923
16:3807282 CREBBP C>T	16	3807282	3807282	C	T	CREBBP	c.3698+7G>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3807282C>T	(Likely) benign	1 lab	1cf9c1414e
10:123844643 TACC2 T>G	10	123844643	123844643	T	G	TACC2	c.2628T>G	NM_206862.4	NP_996744.4:p.(His876Gln)	NC_000010.10:g.123844643T>G	(Likely) benign	1 lab	1cf9e90ef4
19:4531775 PLIN5 G>A	19	4531775	4531775	G	A	PLIN5	c.120C>T	NM_001013706.3	NP_001013728.2:p.(Cys40=)	NC_000019.9:g.4531775G>A	VUS	1 lab	1cfb07452f
3:43759284 ABHD5 T>C	3	43759284	43759284	T	C	ABHD5	c.895T>C	NM_016006.6	NP_057090.2:p.(Cys299Arg)	NC_000003.11:g.43759284T>C	VUS	1 lab	1cfd0e3227
X:135431012 ADGRG4 G>A	X	135431012	135431012	G	A	ADGRG4	c.5147G>A	NM_153834.4	NP_722576.3:p.(Gly1716Asp)	NC_000023.10:g.135431012G>A	(Likely) benign	1 lab	1cfe137765
22:28194933 MN1 T>TGC	22	28194933	28194934	T	TGC	MN1	c.1598_1599insGC	NM_002430.3	NP_002421.3:p.(Gln534HisfsTer25)	NC_000022.10:g.28194933_28194934insGC	VUS	1 lab	1d00940103
1:160141546 ATP1A4 A>G	1	160141546	160141546	A	G	ATP1A4	c.1853A>G	NM_144699.4	NP_653300.2:p.(Lys618Arg)	NC_000001.10:g.160141546A>G	VUS	1 lab	1d00b3878b
9:3879475 GLIS3 G>C	9	3879475	3879475	G	C	GLIS3	c.2249C>G	NM_001042413.2	NP_001035878.1:p.(Pro750Arg)	NC_000009.11:g.3879475G>C	VUS	1 lab	1d01e2d5fb
2:179499594 TTN T>C	2	179499594	179499594	T	C	TTN	c.42025-18A>G	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179499594T>C	(Likely) benign	1 lab	1d0231e66b
10:71010270 HKDC1 GCT>G	10	71010270	71010284	GCT	G	HKDC1	c.1717-6_1717-5del	NM_025130.4	NP_079406.4:p.?	NC_000010.10:g.71010283_71010284del	(Likely) benign	1 lab	1d0296d883
15:89390500 ACAN C>T	15	89390500	89390500	C	T	ACAN	c.1456C>T	NM_001369268.1	NP_001356197.1:p.(Pro486Ser)	NC_000015.9:g.89390500C>T	(Likely) benign	1 lab	1d0361a12a
2:27669200 IFT172 G>T	2	27669200	27669200	G	T	IFT172	c.4682C>A	NM_015662.3	NP_056477.1:p.(Ser1561Tyr)	NC_000002.11:g.27669200G>T	VUS	1 lab	1d052d5871
16:57600604 ADGRG5 C>G	16	57600604	57600604	C	G	ADGRG5	c.640C>G	NM_001304376.3	NP_001291305.1:p.(Pro214Ala)	NC_000016.9:g.57600604C>G	(Likely) benign	1 lab	1d087274cb
9:35801719 NPR2 C>A	9	35801719	35801719	C	A	NPR2	c.1516C>A	NM_003995.4	NP_003986.2:p.(Arg506Ser)	NC_000009.11:g.35801719C>A	(Likely) pathogenic	1 lab	1d0a49b285
7:127326782 SND1 C>T	7	127326782	127326782	C	T	SND1	c.194C>T	NM_014390.4	NP_055205.2:p.(Ala65Val)	NC_000007.13:g.127326782C>T	(Likely) benign	1 lab	1d0a959fb4
2:179393726 TTN C>T	2	179393726	179393726	C	T	TTN	c.79932G>A	NM_133432.3	NP_597676.3:p.(Leu26644=)	NC_000002.11:g.179393726C>T	(Likely) benign	1 lab	1b5108d2c9
5:45695992 HCN1 GCCA>G	5	45695992	45695997	GCCA	G	HCN1	c.201_203del	NM_021072.4	NP_066550.2:p.(Gly74del)	NC_000005.9:g.45695995_45695997del	VUS	1 lab	1d0b1e2022
9:139400000 NOTCH1 C>T	9	139400000	139400000	C	T	NOTCH1	c.4348G>A	NM_017617.5	NP_060087.3:p.(Glu1450Lys)	NC_000009.11:g.139400000C>T	(Likely) benign	1 lab	1d0c7f80ca
5:42424703 GHR A>T	5	42424703	42424703	A	T	GHR	c.-12+646A>T	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42424703A>T	(Likely) benign	1 lab	1d0cb842c7
5:140907264 DIAPH1 ACT>A	5	140907264	140907266	ACT	A	DIAPH1	c.3149-2_3149-1del	NM_005219.5	NP_005210.3:p.?	NC_000005.9:g.140907265_140907266del	(Likely) benign	1 lab	1d0e6534d5
X:153047239 SRPK3 G>A	X	153047239	153047239	G	A	SRPK3	c.341G>A	NM_014370.4	NP_055185.2:p.(Gly114Glu)	NC_000023.10:g.153047239G>A	(Likely) benign	1 lab	1d1100d434
11:64387769 NRXN2 T>C	11	64387769	64387769	T	C	NRXN2	c.4249A>G	NM_015080.4	NP_055895.1:p.(Thr1417Ala)	NC_000011.9:g.64387769T>C	(Likely) benign	1 lab	1d1167218e
2:166897981 SCN1A T>A	2	166897981	166897981	T	A	SCN1A	c.2177-2A>T	NM_001165963.4	NP_001159435.1:p.?	NC_000002.11:g.166897981T>A	VUS	1 lab	1d12371142
2:152553176 NEB T>C	2	152553176	152553176	T	C	NEB	c.1544A>G	NM_001164508.2	NP_001157980.2:p.(Gln515Arg)	NC_000002.11:g.152553176T>C	(Likely) benign	1 lab	1d12e953be
15:42178435 SPTBN5 C>T	15	42178435	42178435	C	T	SPTBN5	c.1018G>A	NM_016642.4	NP_057726.4:p.(Ala340Thr)	NC_000015.9:g.42178435C>T	(Likely) benign	1 lab	1d13e487e2
17:38179042 MED24 C>T	17	38179042	38179042	C	T	MED24	c.2288G>A	NM_014815.4	NP_055630.2:p.(Arg763Gln)	NC_000017.10:g.38179042C>T	VUS	1 lab	1d156389b2
15:48779274 FBN1 A>T	15	48779274	48779274	A	T	FBN1	c.3587T>A	NM_000138.5	NP_000129.3:p.(Val1196Asp)	NC_000015.9:g.48779274A>T	(Likely) benign	1 lab	1d1846240f
17:17696485 RAI1 G>T	17	17696485	17696485	G	T	RAI1	c.223G>T	NM_030665.4	NP_109590.3:p.(Ala75Ser)	NC_000017.10:g.17696485G>T	(Likely) benign	1 lab	1d19376b85
3:168806808 MECOM G>T	3	168806808	168806808	G	T	MECOM	c.3565C>A	NM_004991.4	NP_004982.2:p.(His1189Asn)	NC_000003.11:g.168806808G>T	(Likely) benign	1 lab	1d1ab6f8e9
2:100199274 AFF3 C>T	2	100199274	100199274	C	T	AFF3	c.2779G>A	NM_001386135.1	NP_001373064.1:p.(Gly927Ser)	NC_000002.11:g.100199274C>T	VUS	1 lab	1d1f48bf94
1:197073943 ASPM C>A	1	197073943	197073943	C	A	ASPM	c.4438G>T	NM_018136.5	NP_060606.3:p.(Glu1480Ter)	NC_000001.10:g.197073943C>A	VUS	1 lab	1d20245378
10:104159216 NFKB2 C>T	10	104159216	104159216	C	T	NFKB2	c.1289C>T	NM_001322934.2	NP_001309863.1:p.(Pro430Leu)	NC_000010.10:g.104159216C>T	(Likely) benign	1 lab	1d21bcd4a3
14:33292189 AKAP6 C>T	14	33292189	33292189	C	T	AKAP6	c.5170C>T	NM_004274.5	NP_004265.3:p.(Arg1724Cys)	NC_000014.8:g.33292189C>T	(Likely) benign	1 lab	1d22267511
5:179260095 SQSTM1 CAG>C	5	179260095	179260101	CAG	C	SQSTM1	c.823_824del	NM_003900.5	NP_003891.1:p.(Ser275PhefsTer17)	NC_000005.9:g.179260100_179260101del	(Likely) pathogenic	1 lab	1d231b52d3
7:36465632 ANLN C>T	7	36465632	36465632	C	T	ANLN	c.2757C>T	NM_018685.5	NP_061155.2:p.(Asn919=)	NC_000007.13:g.36465632C>T	(Likely) benign	1 lab	33cd2dfd1e
20:61456378 COL9A3 A>C	20	61456378	61456378	A	C	COL9A3	c.630+5A>C	NM_001853.4	NP_001844.3:p.?	NC_000020.10:g.61456378A>C	(Likely) benign	1 lab	1d247f5c2e
2:189918634 COL5A2 G>T	2	189918634	189918634	G	T	COL5A2	c.2486C>A	NM_000393.5	NP_000384.2:p.(Ser829Tyr)	NC_000002.11:g.189918634G>T	VUS	1 lab	1d24d1d7a8
5:137776744 REEP2 CA>C	5	137776744	137776746	CA	C	REEP2	c.74del	NM_001271803.2	NP_001258732.1:p.(Lys25ArgfsTer3)	NC_000005.9:g.137776746del	VUS	1 lab	1d24f874dd
11:71146765 DHCR7 G>A	11	71146765	71146765	G	A	DHCR7	c.1084C>T	NM_001360.3	NP_001351.2:p.(Arg362Cys)	NC_000011.9:g.71146765G>A	(Likely) pathogenic	1 lab	1d2564328c
9:134494458 RAPGEF1 C>T	9	134494458	134494458	C	T	RAPGEF1	c.2041G>A	NM_001377935.1	NP_001364864.1:p.(Gly681Ser)	NC_000009.11:g.134494458C>T	(Likely) benign	1 lab	1d26fe2450
X:66764995 AR G>A	X	66764995	66764995	G	A	AR	c.7G>A	NM_000044.6	NP_000035.2:p.(Val3Met)	NC_000023.10:g.66764995G>A	VUS	1 lab	1d5ee6d606
11:75439851 MOGAT2 ATCT>A	11	75439851	75439857	ATCT	A	MOGAT2	c.671_673del	NM_025098.4	NP_079374.2:p.(Phe224del)	NC_000011.9:g.75439855_75439857del	VUS	1 lab	1d27b81877
22:50297873 ALG12 C>T	22	50297873	50297873	C	T	ALG12	c.1192G>A	NM_024105.4	NP_077010.1:p.(Ala398Thr)	NC_000022.10:g.50297873C>T	VUS	1 lab	1d2a5d6917
11:44146523 EXT2 C>T	11	44146523	44146523	C	T	EXT2	c.928C>T	NM_207122.2	NP_997005.1:p.(Gln310Ter)	NC_000011.9:g.44146523C>T	(Likely) pathogenic	1 lab	1d2c469894
16:4847743 ROGDI A>C	16	4847743	4847743	A	C	ROGDI	c.794T>G	NM_024589.3	NP_078865.1:p.(Leu265Arg)	NC_000016.9:g.4847743A>C	VUS	1 lab	1d30db782b
22:51153455 SHANK3 A>G	22	51153455	51153455	A	G	SHANK3	c.2470A>G	NM_001372044.2	NP_001358973.1:p.(Ile824Val)	NC_000022.10:g.51153455A>G	(Likely) benign	1 lab	1d33d3785f
3:7188180 GRM7 T>C	3	7188180	7188180	T	C	GRM7	c.561T>C	NM_000844.4	NP_000835.1:p.(Ser187=)	NC_000003.11:g.7188180T>C	(Likely) benign	1 lab	1d33e7417f
17:78055596 CCDC40 C>T	17	78055596	78055596	C	T	CCDC40	c.1806+8C>T	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78055596C>T	(Likely) benign	1 lab	1d35cf0a06
22:26351274 MYO18B G>A	22	26351274	26351274	G	A	MYO18B	c.6100G>A	NM_032608.7	NP_115997.5:p.(Asp2034Asn)	NC_000022.10:g.26351274G>A	VUS	1 lab	1d35d3906c
12:120661557 PXN G>A	12	120661557	120661557	G	A	PXN	c.320C>T	NM_001385981.1	NP_001372910.1:p.(Pro107Leu)	NC_000012.11:g.120661557G>A	VUS	1 lab	1d3689a807
1:186064492 HMCN1 G>A	1	186064492	186064492	G	A	HMCN1	c.10412G>A	NM_031935.3	NP_114141.2:p.(Arg3471Lys)	NC_000001.10:g.186064492G>A	(Likely) benign	1 lab	1d38fd4d41
2:228029474 COL4A3 TGCTCCTGCTGCC>T	2	228029474	228029496	TGCTCCTGCTGCC	T	COL4A3	c.43_54del	NM_000091.5	NP_000082.2:p.(Pro15_Leu18del)	NC_000002.11:g.228029485_228029496del	(Likely) benign	1 lab	1d393c571b
19:42754044 ERF G>A	19	42754044	42754044	G	A	ERF	c.308C>T	NM_006494.4	NP_006485.2:p.(Thr103Ile)	NC_000019.9:g.42754044G>A	VUS	1 lab	1d3a9b126e
18:25568604 CDH2 T>C	18	25568604	25568604	T	C	CDH2	c.1625A>G	NM_001792.5	NP_001783.2:p.(Asn542Ser)	NC_000018.9:g.25568604T>C	VUS	1 lab	1d3ac48216
13:52718937 NEK3 C>T	13	52718937	52718937	C	T	NEK3	c.693G>A	NM_002498.3	NP_002489.1:p.(Gln231=)	NC_000013.10:g.52718937C>T	VUS	1 lab	1d5fe20a6b
4:1919852 NSD2 C>CT	4	1919852	1919862	C	CT	NSD2	c.928-6dup	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1919862dup	(Likely) benign	1 lab	1d3af38da7
12:120214655 CIT C>A	12	120214655	120214655	C	A	CIT	c.1666-9G>T	NM_001206999.2	NP_001193928.1:p.?	NC_000012.11:g.120214655C>A	(Likely) benign	1 lab	1d3dba1c89
16:89340957 ANKRD11 T>A	16	89340957	89340957	T	A	ANKRD11	c.7713+265A>T	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89340957T>A	(Likely) benign	1 lab	1d3df5afb7
X:117749585 DOCK11 A>G	X	117749585	117749585	A	G	DOCK11	c.3203A>G	NM_144658.4	NP_653259.3:p.(Glu1068Gly)	NC_000023.10:g.117749585A>G	VUS	1 lab	1d41593725
12:105150838 CHST11 G>A	12	105150838	105150838	G	A	CHST11	c.316G>A	NM_018413.6	NP_060883.1:p.(Asp106Asn)	NC_000012.11:g.105150838G>A	(Likely) benign	1 lab	1d420014dc
2:26502111 HADHB C>T	2	26502111	26502111	C	T	HADHB	c.739C>T	NM_000183.3	NP_000174.1:p.(Arg247Cys)	NC_000002.11:g.26502111C>T	(Likely) pathogenic	1 lab	1d42382956
19:48814888 ODAD1 A>C	19	48814888	48814888	A	C	ODAD1	c.519T>G	NM_001364171.2	NP_001351100.1:p.(Asn173Lys)	NC_000019.9:g.48814888A>C	VUS	1 lab	1d4511addf
7:103270627 RELN G>A	7	103270627	103270627	G	A	RELN	c.2466-4C>T	NM_005045.4	NP_005036.2:p.?	NC_000007.13:g.103270627G>A	(Likely) benign	1 lab	1d452f5ab0
3:43753292 ABHD5 G>A	3	43753292	43753292	G	A	ABHD5	c.598G>A	NM_016006.6	NP_057090.2:p.(Ala200Thr)	NC_000003.11:g.43753292G>A	VUS	1 lab	1d59d87a75
11:108178696 ATM T>C	11	108178696	108178696	T	C	ATM	c.5747T>C	NM_000051.4	NP_000042.3:p.(Met1916Thr)	NC_000011.9:g.108178696T>C	VUS	1 lab	1d45aca1b8
6:129813486 LAMA2 C>T	6	129813486	129813486	C	T	LAMA2	c.8102C>T	NM_000426.4	NP_000417.3:p.(Ser2701Phe)	NC_000006.11:g.129813486C>T	VUS	1 lab	1d47b30b56
17:40379552 STAT5B G>A	17	40379552	40379552	G	A	STAT5B	c.280C>T	NM_012448.4	NP_036580.2:p.(Leu94Phe)	NC_000017.10:g.40379552G>A	(Likely) benign	1 lab	1d49584826
17:8383558 MYH10 G>A	17	8383558	8383558	G	A	MYH10	c.5467C>T	NM_001256012.3	NP_001242941.1:p.(Arg1823Trp)	NC_000017.10:g.8383558G>A	VUS	1 lab	1d49add3e3
19:12758376 MAN2B1 G>T	19	12758376	12758376	G	T	MAN2B1	c.2701C>A	NM_000528.4	NP_000519.2:p.(His901Asn)	NC_000019.9:g.12758376G>T	VUS	1 lab	1d4aabdfd3
5:140750024 PCDHGA1 G>T	5	140750024	140750024	G	T	PCDHGA1	c.2421+37352G>T	NM_018912.3	NP_061735.1:p.?	NC_000005.9:g.140750024G>T	VUS	1 lab	1d4b4d5f64
9:140145754 STPG3 C>T	9	140145754	140145754	C	T	STPG3	c.16C>T	NM_001004353.4	NP_001004353.2:p.(Gln6Ter)	NC_000009.11:g.140145754C>T	VUS	1 lab	1d4bf94af7
7:55259563 EGFR G>A	7	55259563	55259563	G	A	EGFR	c.2621G>A	NM_005228.5	NP_005219.2:p.(Gly874Asp)	NC_000007.13:g.55259563G>A	VUS	1 lab	1b37d8bdde
3:48361064 SPINK8 G>A	3	48361064	48361064	G	A	SPINK8	c.162C>T	NM_001080525.3	NP_001073994.1:p.(Tyr54=)	NC_000003.11:g.48361064G>A	VUS	1 lab	1d4c295f8e
7:92761115 SAMD9L C>T	7	92761115	92761115	C	T	SAMD9L	c.4170G>A	NM_152703.5	NP_689916.2:p.(Leu1390=)	NC_000007.13:g.92761115C>T	(Likely) benign	1 lab	1b5586445f
12:70747693 CNOT2 T>TA	12	70747693	70747718	T	TA	CNOT2	c.*23dup	NM_014515.7	NP_055330.1:p.?	NC_000012.11:g.70747718dup	(Likely) benign	1 lab	1d4cebb04c
X:153041561 PLXNB3 C>T	X	153041561	153041561	C	T	PLXNB3	c.4621C>T	NM_005393.3	NP_005384.2:p.(Arg1541Trp)	NC_000023.10:g.153041561C>T	(Likely) benign	1 lab	1d4ee33692
1:115217379 AMPD1 T>A	1	115217379	115217379	T	A	AMPD1	c.1794A>T	NM_000036.3	NP_000027.3:p.(Leu598Phe)	NC_000001.10:g.115217379T>A	VUS	1 lab	1d4fa66511
1:27238478 NR0B2 T>C	1	27238478	27238478	T	C	NR0B2	c.632A>G	NM_021969.3	NP_068804.1:p.(Gln211Arg)	NC_000001.10:g.27238478T>C	VUS	1 lab	1d50973b28
3:129325211 PLXND1 G>A	3	129325211	129325211	G	A	PLXND1	c.272C>T	NM_015103.3	NP_055918.3:p.(Ala91Val)	NC_000003.11:g.129325211G>A	VUS	1 lab	1d512086ac
22:41569733 EP300 A>G	22	41569733	41569733	A	G	EP300	c.4724A>G	NM_001429.4	NP_001420.2:p.(Asn1575Ser)	NC_000022.10:g.41569733A>G	(Likely) benign	1 lab	1d5135f518
11:61548193 MYRF C>T	11	61548193	61548193	C	T	MYRF	c.2415C>T	NM_001127392.3	NP_001120864.1:p.(Ala805=)	NC_000011.9:g.61548193C>T	VUS	1 lab	1d514a3478
12:57974872 KIF5A G>A	12	57974872	57974872	G	A	KIF5A	c.2672G>A	NM_004984.4	NP_004975.2:p.(Arg891His)	NC_000012.11:g.57974872G>A	(Likely) benign	1 lab	1d51cecb48
12:49226293 DDX23 G>A	12	49226293	49226293	G	A	DDX23	c.1867C>T	NM_004818.3	NP_004809.2:p.(Arg623Ter)	NC_000012.11:g.49226293G>A	VUS	1 lab	1d5224eec7
19:15297982 NOTCH3 G>T	19	15297982	15297982	G	T	NOTCH3	c.1774C>A	NM_000435.3	NP_000426.2:p.(Arg592Ser)	NC_000019.9:g.15297982G>T	VUS	1 lab	1d52991598
6:168720291 DACT2 G>A	6	168720291	168720291	G	A	DACT2	c.23C>T	NM_214462.5	NP_999627.2:p.(Pro8Leu)	NC_000006.11:g.168720291G>A	VUS	1 lab	1d5352c8e4
12:1192573 ERC1 C>T	12	1192573	1192573	C	T	ERC1	c.913C>T	NM_178040.4	NP_829884.1:p.(Arg305Trp)	NC_000012.11:g.1192573C>T	VUS	1 lab	1d54998e9d
4:114276358 ANK2 G>A	4	114276358	114276358	G	A	ANK2	c.6584G>A	NM_001148.6	NP_001139.3:p.(Ser2195Asn)	NC_000004.11:g.114276358G>A	VUS	1 lab	1d54b3ea19
16:21031053 DNAH3 C>T	16	21031053	21031053	C	T	DNAH3	c.5777G>A	NM_001347886.2	NP_001334815.1:p.(Arg1926Lys)	NC_000016.9:g.21031053C>T	VUS	1 lab	1d55be5528
4:57302426 PAICS A>G	4	57302426	57302426	A	G	PAICS	c.-53A>G	NM_001079524.2	NP_001072992.1:p.?	NC_000004.11:g.57302426A>G	VUS	1 lab	1d55c6393b
5:127615964 FBN2 C>A	5	127615964	127615964	C	A	FBN2	c.7058G>T	NM_001999.4	NP_001990.2:p.(Arg2353Leu)	NC_000005.9:g.127615964C>A	VUS	1 lab	1d583cbe65
12:48371203 COL2A1 C>T	12	48371203	48371203	C	T	COL2A1	c.3173G>A	NM_001844.5	NP_001835.3:p.(Arg1058His)	NC_000012.11:g.48371203C>T	VUS	1 lab	1d5915a22d
11:17434942 ABCC8 C>A	11	17434942	17434942	C	A	ABCC8	c.2474G>T	NM_000352.6	NP_000343.2:p.(Arg825Leu)	NC_000011.9:g.17434942C>A	VUS	1 lab	1d59ae17c5
1:1271641 DVL1 G>GC	1	1271641	1271648	G	GC	DVL1	c.1968dup	NM_001330311.2	NP_001317240.1:p.(Pro657AlafsTer50)	NC_000001.10:g.1271648dup	VUS	1 lab	1d5af0d666
5:71491950 MAP1B T>C	5	71491950	71491950	T	C	MAP1B	c.2768T>C	NM_005909.5	NP_005900.2:p.(Ile923Thr)	NC_000005.9:g.71491950T>C	(Likely) benign	1 lab	1d5b64ec13
17:7749710 KDM6B A>C	17	7749710	7749710	A	C	KDM6B	c.457-8A>C	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7749710A>C	(Likely) benign	1 lab	1d5b65df9d
X:105167411 NRK A>G	X	105167411	105167411	A	G	NRK	c.2912A>G	NM_198465.4	NP_940867.2:p.(Asp971Gly)	NC_000023.10:g.105167411A>G	(Likely) benign	1 lab	1d5c5b30a6
21:34923330 SON G>A	21	34923330	34923330	G	A	SON	c.1793G>A	NM_138927.4	NP_620305.3:p.(Gly598Glu)	NC_000021.8:g.34923330G>A	(Likely) benign	1 lab	1d5ebc736e
11:6630184 ILK C>T	11	6630184	6630184	C	T	ILK	c.518C>T	NM_004517.4	NP_004508.1:p.(Thr173Ile)	NC_000011.9:g.6630184C>T	(Likely) benign	1 lab	1d61eaf1de
16:51173823 SALL1 G>A	16	51173823	51173823	G	A	SALL1	c.2310C>T	NM_002968.3	NP_002959.2:p.(Ile770=)	NC_000016.9:g.51173823G>A	(Likely) benign	1 lab	1d62158070
2:33500035 LTBP1 T>C	2	33500035	33500035	T	C	LTBP1	c.2747T>C	NM_206943.4	NP_996826.3:p.(Ile916Thr)	NC_000002.11:g.33500035T>C	VUS	1 lab	1d62f99a2a
15:64017654 HERC1 C>G	15	64017654	64017654	C	G	HERC1	c.3405G>C	NM_003922.4	NP_003913.3:p.(Trp1135Cys)	NC_000015.9:g.64017654C>G	VUS	1 lab	1d64a12303
14:102505063 DYNC1H1 G>A	14	102505063	102505063	G	A	DYNC1H1	c.11084G>A	NM_001376.5	NP_001367.2:p.(Arg3695Gln)	NC_000014.8:g.102505063G>A	(Likely) pathogenic	1 lab	1d64e5457f
17:19282235 MAPK7 G>A	17	19282235	19282235	G	A	MAPK7	c.22G>A	NM_002749.4	NP_002740.2:p.(Glu8Lys)	NC_000017.10:g.19282235G>A	VUS	1 lab	1d6557879e
2:97026311 NCAPH T>TA	2	97026311	97026318	T	TA	NCAPH	c.1465-8dup	NM_015341.5	NP_056156.2:p.?	NC_000002.11:g.97026318dup	(Likely) benign	1 lab	1d656e78ac
1:223164028 DISP1 G>A	1	223164028	223164028	G	A	DISP1	c.601G>A	NM_001377229.1	NP_001364158.1:p.(Val201Ile)	NC_000001.10:g.223164028G>A	VUS	1 lab	1d660b8fc1
3:47164922 SETD2 G>A	3	47164922	47164922	G	A	SETD2	c.1204C>T	NM_014159.7	NP_054878.5:p.(Arg402Trp)	NC_000003.11:g.47164922G>A	VUS	1 lab	1d66d8fefa
19:38897589 FAM98C C>T	19	38897589	38897589	C	T	FAM98C	c.790C>T	NM_174905.4	NP_777565.3:p.(Arg264Ter)	NC_000019.9:g.38897589C>T	VUS	1 lab	1d66eebbfa
11:17485141 ABCC8 C>T	11	17485141	17485141	C	T	ABCC8	c.423G>A	NM_000352.6	NP_000343.2:p.(Val141=)	NC_000011.9:g.17485141C>T	(Likely) benign	1 lab	1d67208955
1:152275883 FLG C>A	1	152275883	152275883	C	A	FLG	c.11479G>T	NM_002016.2	NP_002007.1:p.(Gly3827Trp)	NC_000001.10:g.152275883C>A	(Likely) benign	1 lab	1d6a25e264
9:139563037 EGFL7 G>A	9	139563037	139563037	G	A	EGFL7	c.109G>A	NM_016215.5	NP_057299.1:p.(Gly37Arg)	NC_000009.11:g.139563037G>A	(Likely) benign	1 lab	1d6a92e108
19:48901861 GRIN2D C>T	19	48901861	48901861	C	T	GRIN2D	c.212C>T	NM_000836.4	NP_000827.2:p.(Pro71Leu)	NC_000019.9:g.48901861C>T	VUS	1 lab	1d6b02a827
8:17921959 ASAH1 C>T	8	17921959	17921959	C	T	ASAH1	c.457+7G>A	NM_177924.5	NP_808592.2:p.?	NC_000008.10:g.17921959C>T	(Likely) benign	1 lab	1d6c7fd2d7
17:41246014 BRCA1 G>A	17	41246014	41246014	G	A	BRCA1	c.1534C>T	NM_007294.4	NP_009225.1:p.(Leu512Phe)	NC_000017.10:g.41246014G>A	VUS	1 lab	1b3a0d0f17
20:61450632 COL9A3 T>A	20	61450632	61450632	T	A	COL9A3	c.242T>A	NM_001853.4	NP_001844.3:p.(Leu81Gln)	NC_000020.10:g.61450632T>A	VUS	1 lab	1d734efd92
X:24006757 KLHL15 A>C	X	24006757	24006757	A	C	KLHL15	c.1096T>G	NM_030624.3	NP_085127.2:p.(Ser366Ala)	NC_000023.10:g.24006757A>C	VUS	1 lab	1d7518fe60
20:47881237 ZNFX1 C>T	20	47881237	47881237	C	T	ZNFX1	c.2151+16G>A	NM_021035.3	NP_066363.1:p.?	NC_000020.10:g.47881237C>T	(Likely) benign	1 lab	1b55f8de4a
11:59189808 OR5A2 C>T	11	59189808	59189808	C	T	OR5A2	c.619G>A	NM_001001954.2	NP_001001954.1:p.(Val207Ile)	NC_000011.9:g.59189808C>T	(Likely) benign	1 lab	1d75d429a4
19:10097073 COL5A3 C>T	19	10097073	10097073	C	T	COL5A3	c.2270G>A	NM_015719.4	NP_056534.2:p.(Arg757Gln)	NC_000019.9:g.10097073C>T	(Likely) benign	1 lab	1d76e96a40
2:33413820 LTBP1 C>T	2	33413820	33413820	C	T	LTBP1	c.1603C>T	NM_206943.4	NP_996826.3:p.(His535Tyr)	NC_000002.11:g.33413820C>T	VUS	1 lab	1d7857a627
1:212911789 NSL1 C>T	1	212911789	212911789	C	T	NSL1	c.807G>A	NM_015471.4	NP_056286.3:p.(Trp269Ter)	NC_000001.10:g.212911789C>T	VUS	1 lab	1d79145c94
16:50741805 NOD2 G>C	16	50741805	50741805	G	C	NOD2	c.499G>C	NM_001370466.1	NP_001357395.1:p.(Gly167Arg)	NC_000016.9:g.50741805G>C	(Likely) benign	1 lab	1d79bab35c
16:58592389 CNOT1 A>T	16	58592389	58592389	A	T	CNOT1	c.2320T>A	NM_016284.5	NP_057368.3:p.(Ser774Thr)	NC_000016.9:g.58592389A>T	VUS	1 lab	1d7ad8d93f
10:124345796 DMBT1 C>G	10	124345796	124345796	C	G	DMBT1	c.1680C>G	NM_001377530.1	NP_001364459.1:p.(Asp560Glu)	NC_000010.10:g.124345796C>G	(Likely) benign	1 lab	1d7b8106b3
7:150933593 CHPF2 G>A	7	150933593	150933593	G	A	CHPF2	c.928G>A	NM_019015.3	NP_061888.1:p.(Glu310Lys)	NC_000007.13:g.150933593G>A	(Likely) benign	1 lab	1d7bdca10f
2:84846883 DNAH6 A>T	2	84846883	84846883	A	T	DNAH6	c.3647A>T	NM_001370.2	NP_001361.1:p.(His1216Leu)	NC_000002.11:g.84846883A>T	VUS	1 lab	1d7ce6c973
15:99442815 IGF1R C>T	15	99442815	99442815	C	T	IGF1R	c.1212C>T	NM_000875.5	NP_000866.1:p.(Asn404=)	NC_000015.9:g.99442815C>T	(Likely) benign	1 lab	1d7d5cfecd
12:49420670 KMT2D G>A	12	49420670	49420670	G	A	KMT2D	c.15079C>T	NM_003482.4	NP_003473.3:p.(Arg5027Ter)	NC_000012.11:g.49420670G>A	(Likely) pathogenic	1 lab	1d7e94285f
1:19446779 UBR4 A>G	1	19446779	19446779	A	G	UBR4	c.10205T>C	NM_020765.3	NP_065816.2:p.(Phe3402Ser)	NC_000001.10:g.19446779A>G	(Likely) benign	1 lab	1d8014f5ea
11:77824930 ALG8 A>C	11	77824930	77824930	A	C	ALG8	c.777+2T>G	NM_024079.5	NP_076984.2:p.?	NC_000011.9:g.77824930A>C	VUS	1 lab	1d80753300
19:13365926 CACNA1A T>C	19	13365926	13365926	T	C	CACNA1A	c.4738A>G	NM_001127222.2	NP_001120694.1:p.(Ile1580Val)	NC_000019.9:g.13365926T>C	VUS	1 lab	1b3fee7cf5
16:1493538 CCDC154 G>A	16	1493538	1493538	G	A	CCDC154	c.383C>T	NM_001143980.3	NP_001137452.1:p.(Ala128Val)	NC_000016.9:g.1493538G>A	(Likely) benign	1 lab	1d81d8ba6d
5:111570400 EPB41L4A G>A	5	111570400	111570400	G	A	EPB41L4A	c.1018C>T	NM_022140.5	NP_071423.4:p.(Pro340Ser)	NC_000005.9:g.111570400G>A	VUS	1 lab	1d82109dbd
16:2815954 SRRM2 C>T	16	2815954	2815954	C	T	SRRM2	c.5425C>T	NM_016333.4	NP_057417.3:p.(Arg1809Trp)	NC_000016.9:g.2815954C>T	VUS	1 lab	1d843a0e43
5:36972059 NIPBL T>C	5	36972059	36972059	T	C	NIPBL	c.784T>C	NM_015384.5	NP_056199.2:p.(Ser262Pro)	NC_000005.9:g.36972059T>C	VUS	1 lab	1b412da2b7
19:14710561 CLEC17A C>G	19	14710561	14710561	C	G	CLEC17A	c.679C>G	NM_001204118.2	NP_001191047.1:p.(His227Asp)	NC_000019.9:g.14710561C>G	VUS	1 lab	1d849b6bff
9:101895003 TGFBR1 A>G	9	101895003	101895003	A	G	TGFBR1	c.556A>G	NM_004612.4	NP_004603.1:p.(Thr186Ala)	NC_000009.11:g.101895003A>G	VUS	1 lab	1d84b134a2
1:27875955 AHDC1 C>T	1	27875955	27875955	C	T	AHDC1	c.2672G>A	NM_001371928.1	NP_001358857.1:p.(Arg891Gln)	NC_000001.10:g.27875955C>T	VUS	1 lab	1d85c70fb1
2:179519629 TTN G>A	2	179519629	179519629	G	A	TTN	c.38122+10C>T	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179519629G>A	(Likely) benign	1 lab	1d86084a7d
7:31793060 PDE1C G>T	7	31793060	31793060	G	T	PDE1C	c.2068C>A	NM_001191057.4	NP_001177986.1:p.(Leu690Met)	NC_000007.13:g.31793060G>T	(Likely) benign	1 lab	1d8922232d
7:148513822 EZH2 C>T	7	148513822	148513822	C	T	EZH2	c.1459G>A	NM_004456.5	NP_004447.2:p.(Ala487Thr)	NC_000007.13:g.148513822C>T	(Likely) benign	1 lab	1d8b11d172
6:33756559 LEMD2 G>C	6	33756559	33756559	G	C	LEMD2	c.335C>G	NM_181336.4	NP_851853.1:p.(Ala112Gly)	NC_000006.11:g.33756559G>C	VUS	1 lab	1d8c73ba7c
2:232325438 NCL T>TTCG	2	232325438	232325452	T	TTCG	NCL	c.750_752dup	NM_005381.3	NP_005372.2:p.(Asp250dup)	NC_000002.11:g.232325450_232325452dup	VUS	1 lab	1d8dd3a44a
12:105538213 WASHC4 A>G	12	105538213	105538213	A	G	WASHC4	c.2159A>G	NM_015275.3	NP_056090.1:p.(Asn720Ser)	NC_000012.11:g.105538213A>G	VUS	1 lab	1d8df92b03
19:17283736 MYO9B G>A	19	17283736	17283736	G	A	MYO9B	c.2104G>A	NM_004145.4	NP_004136.2:p.(Gly702Arg)	NC_000019.9:g.17283736G>A	VUS	1 lab	1d8e731261
20:43052763 HNF4A G>A	20	43052763	43052763	G	A	HNF4A	c.998G>A	NM_000457.5	NP_000448.3:p.(Arg333His)	NC_000020.10:g.43052763G>A	(Likely) pathogenic	1 lab	1d8f5a162f
22:41533712 EP300 G>A	22	41533712	41533712	G	A	EP300	c.1678G>A	NM_001429.4	NP_001420.2:p.(Ala560Thr)	NC_000022.10:g.41533712G>A	VUS	1 lab	1d906a2e37
X:107979511 IRS4 C>CTG	X	107979511	107979512	C	CTG	IRS4	c.63_64insCA	NM_001379150.1	NP_001366079.1:p.(Ala22GlnfsTer6)	NC_000023.10:g.107979511_107979512insTG	(Likely) benign	1 lab	1d911776f6
7:100349881 ZAN C>G	7	100349881	100349881	C	G	ZAN	c.2153C>G	NM_003386.3	NP_003377.2:p.(Thr718Ser)	NC_000007.13:g.100349881C>G	(Likely) benign	1 lab	1d916f8c95
11:17414565 ABCC8 G>A	11	17414565	17414565	G	A	ABCC8	c.4719C>T	NM_000352.6	NP_000343.2:p.(Phe1573=)	NC_000011.9:g.17414565G>A	(Likely) benign	1 lab	1d92a229ec
12:21991021 ABCC9 C>T	12	21991021	21991021	C	T	ABCC9	c.3557G>A	NM_020297.4	NP_064693.2:p.(Arg1186Gln)	NC_000012.11:g.21991021C>T	VUS	1 lab	1d92d686d3
11:61541572 MYRF G>A	11	61541572	61541572	G	A	MYRF	c.1249G>A	NM_001127392.3	NP_001120864.1:p.(Val417Ile)	NC_000011.9:g.61541572G>A	VUS	1 lab	1d942f904b
16:2155331 PKD1 G>A	16	2155331	2155331	G	A	PKD1	c.8008C>T	NM_001009944.3	NP_001009944.3:p.(Gln2670Ter)	NC_000016.9:g.2155331G>A	(Likely) pathogenic	1 lab	1d94567a2b
11:68214366 LRP5 G>GC	11	68214366	68214371	G	GC	LRP5	c.4586+370dup	NM_002335.4	NP_002326.2:p.?	NC_000011.9:g.68214371dup	(Likely) benign	1 lab	1d97530fcd
2:179410387 TTN A>C	2	179410387	179410387	A	C	TTN	c.95450T>G	NM_001267550.2	NP_001254479.2:p.(Val31817Gly)	NC_000002.11:g.179410387A>C	VUS	1 lab	1d98a4d3bb
2:242157201 ANO7 C>T	2	242157201	242157201	C	T	ANO7	c.2073C>T	NM_001370694.2	NP_001357623.1:p.(Arg691=)	NC_000002.11:g.242157201C>T	VUS	1 lab	1d98cda064
9:140729284 EHMT1 G>A	9	140729284	140729284	G	A	EHMT1	c.3776G>A	NM_024757.5	NP_079033.4:p.(Gly1259Asp)	NC_000009.11:g.140729284G>A	VUS	1 lab	1d99a3aeab
10:74992758 FAM149B1 T>G	10	74992758	74992758	T	G	FAM149B1	c.1189T>G	NM_173348.2	NP_775483.1:p.(Trp397Gly)	NC_000010.10:g.74992758T>G	(Likely) benign	1 lab	1d99ca1139
9:13113006 MPDZ T>C	9	13113006	13113006	T	C	MPDZ	c.5601+4A>G	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13113006T>C	VUS	1 lab	1d9a91e854
12:12274302 LRP6 T>G	12	12274302	12274302	T	G	LRP6	c.4600A>C	NM_002336.3	NP_002327.2:p.(Thr1534Pro)	NC_000012.11:g.12274302T>G	(Likely) benign	1 lab	1da0bbbee0
20:19870285 RIN2 C>T	20	19870285	19870285	C	T	RIN2	c.40C>T	NM_018993.4	NP_061866.1:p.(Arg14Ter)	NC_000020.10:g.19870285C>T	(Likely) pathogenic	1 lab	1da2837a42
12:20769159 PDE3A C>T	12	20769159	20769159	C	T	PDE3A	c.1270-5C>T	NM_000921.5	NP_000912.3:p.?	NC_000012.11:g.20769159C>T	(Likely) benign	1 lab	1da338204f
4:73985885 ANKRD17 A>G	4	73985885	73985885	A	G	ANKRD17	c.4019T>C	NM_032217.5	NP_115593.3:p.(Ile1340Thr)	NC_000004.11:g.73985885A>G	VUS	1 lab	1da3a5cb7d
19:42837850 MEGF8 C>T	19	42837850	42837850	C	T	MEGF8	c.281C>T	NM_001271938.2	NP_001258867.1:p.(Pro94Leu)	NC_000019.9:g.42837850C>T	VUS	1 lab	1da4c6e204
6:33144501 COL11A2 G>C	6	33144501	33144501	G	C	COL11A2	c.2112C>G	NM_080680.3	NP_542411.2:p.(Asn704Lys)	NC_000006.11:g.33144501G>C	VUS	1 lab	1da58614fb
2:18741753 RDH14 A>T	2	18741753	18741753	A	T	RDH14	c.86T>A	NM_020905.4	NP_065956.1:p.(Val29Asp)	NC_000002.11:g.18741753A>T	(Likely) benign	1 lab	1da5c3ded9
12:132547089 EP400 A>AGC	12	132547089	132547090	A	AGC	EP400	c.8177_8178insGC	NM_015409.5	NP_056224.3:p.(Gln2727HisfsTer51)	NC_000012.11:g.132547089_132547090insGC	VUS	1 lab	1da6333979
6:41555541 FOXP4 G>A	6	41555541	41555541	G	A	FOXP4	c.883G>A	NM_001012426.2	NP_001012426.1:p.(Glu295Lys)	NC_000006.11:g.41555541G>A	VUS	1 lab	1da6c4874f
3:53837481 CACNA1D A>G	3	53837481	53837481	A	G	CACNA1D	c.5527A>G	NM_000720.4	NP_000711.1:p.(Ile1843Val)	NC_000003.11:g.53837481A>G	VUS	1 lab	1b429dbfc6
8:20107319 LZTS1 G>T	8	20107319	20107319	G	T	LZTS1	c.1705C>A	NM_021020.5	NP_066300.1:p.(Arg569Ser)	NC_000008.10:g.20107319G>T	(Likely) benign	1 lab	1da970bba6
3:124458940 UMPS T>C	3	124458940	124458940	T	C	UMPS	c.1052T>C	NM_000373.4	NP_000364.1:p.(Val351Ala)	NC_000003.11:g.124458940T>C	(Likely) benign	1 lab	1da9a43b3c
7:154595586 DPP6 AACG>A	7	154595586	154595591	AACG	A	DPP6	c.1423_1425del	NM_130797.4	NP_570629.2:p.(Asp475del)	NC_000007.13:g.154595589_154595591del	VUS	1 lab	1daa2c8ae4
19:50985174 EMC10 AG>A	19	50985174	50985177	AG	A	EMC10	c.679-229del	NM_206538.4	NP_996261.1:p.?	NC_000019.9:g.50985177del	(Likely) pathogenic	1 lab	1daa3ce8ae
14:77767610 POMT2 G>A	14	77767610	77767610	G	A	POMT2	c.657-18C>T	NM_013382.7	NP_037514.2:p.?	NC_000014.8:g.77767610G>A	(Likely) benign	1 lab	1dadeee8fb
X:114425994 RBMXL3 G>A	X	114425994	114425994	G	A	RBMXL3	c.1990G>A	NM_001145346.2	NP_001138818.1:p.(Gly664Arg)	NC_000023.10:g.114425994G>A	(Likely) benign	1 lab	1dae53bd97
16:2550795 TBC1D24 CATCCTGCAGGGGG>C	16	2550795	2550809	CATCCTGCAGGGGG	C	TBC1D24	c.1526-8_1530del	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2550797_2550809del	VUS	1 lab	1daee18d8d
2:38301564 CYP1B1 G>A	2	38301564	38301564	G	A	CYP1B1	c.968C>T	NM_000104.4	NP_000095.2:p.(Thr323Ile)	NC_000002.11:g.38301564G>A	VUS	1 lab	1dafaf15e5
7:26400617 SNX10 G>T	7	26400617	26400617	G	T	SNX10	c.47G>T	NM_013322.3	NP_037454.2:p.(Arg16Leu)	NC_000007.13:g.26400617G>T	VUS	1 lab	3084039ad0
16:54967130 IRX5 GC>G	16	54967130	54967138	GC	G	IRX5	c.805del	NM_005853.6	NP_005844.4:p.(Arg269AlafsTer98)	NC_000016.9:g.54967138del	VUS	1 lab	1db2924521
7:44715563 OGDH C>T	7	44715563	44715563	C	T	OGDH	c.1027-6C>T	NM_002541.4	NP_002532.2:p.?	NC_000007.13:g.44715563C>T	(Likely) benign	1 lab	1db2cf27a5
12:46246233 ARID2 A>G	12	46246233	46246233	A	G	ARID2	c.4327A>G	NM_152641.4	NP_689854.2:p.(Ser1443Gly)	NC_000012.11:g.46246233A>G	(Likely) benign	1 lab	1db357a265
14:20002293 POTEM G>C	14	20002293	20002293	G	C	POTEM	c.1129C>G	NM_001145442.1	NP_001138914.1:p.(Gln377Glu)	NC_000014.8:g.20002293G>C	(Likely) benign	1 lab	1db3c896d5
1:36384745 AGO1 C>A	1	36384745	36384745	C	A	AGO1	c.2355C>A	NM_012199.5	NP_036331.1:p.(Cys785Ter)	NC_000001.10:g.36384745C>A	VUS	1 lab	1e309e7401
15:42682233 CAPN3 A>C	15	42682233	42682233	A	C	CAPN3	c.884A>C	NM_000070.3	NP_000061.1:p.(Asp295Ala)	NC_000015.9:g.42682233A>C	(Likely) pathogenic	1 lab	1db437f879
17:65344679 PSMD12 A>G	17	65344679	65344679	A	G	PSMD12	c.497T>C	NM_002816.5	NP_002807.1:p.(Leu166Ser)	NC_000017.10:g.65344679A>G	VUS	1 lab	1db641811d
16:89212465 ACSF3 T>G	16	89212465	89212465	T	G	ACSF3	c.1613+8T>G	NM_001243279.3	NP_001230208.1:p.?	NC_000016.9:g.89212465T>G	(Likely) benign	1 lab	1db67b9923
1:2460944 HES5 C>CGCG	1	2460944	2460963	C	CGCG	HES5	c.462_464dup	NM_001010926.4	NP_001010926.1:p.(Ala155dup)	NC_000001.10:g.2460961_2460963dup	(Likely) benign	1 lab	1db716d194
9:133920915 LAMC3 C>T	9	133920915	133920915	C	T	LAMC3	c.1387C>T	NM_006059.4	NP_006050.3:p.(Arg463Cys)	NC_000009.11:g.133920915C>T	VUS	1 lab	1db937c2ca
1:181765942 CACNA1E G>A	1	181765942	181765942	G	A	CACNA1E	c.6347G>A	NM_001205293.3	NP_001192222.1:p.(Arg2116His)	NC_000001.10:g.181765942G>A	(Likely) benign	1 lab	1db94dde09
9:139916337 ABCA2 C>T	9	139916337	139916337	C	T	ABCA2	c.678+6G>A	NM_001606.5	NP_001597.2:p.?	NC_000009.11:g.139916337C>T	VUS	1 lab	1dbc9735ef
16:1306685 TPSD1 A>G	16	1306685	1306685	A	G	TPSD1	c.251A>G	NM_012217.3	NP_036349.1:p.(Glu84Gly)	NC_000016.9:g.1306685A>G	(Likely) benign	1 lab	1dbce726e7
16:53860088 FTO C>A	16	53860088	53860088	C	A	FTO	c.436C>A	NM_001080432.3	NP_001073901.1:p.(Leu146Met)	NC_000016.9:g.53860088C>A	VUS	1 lab	1dbd623de5
12:46242761 ARID2 C>T	12	46242761	46242761	C	T	ARID2	c.1715+8C>T	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46242761C>T	(Likely) benign	1 lab	1dbe0ea22b
4:120193087 USP53 G>A	4	120193087	120193087	G	A	USP53	c.2072G>A	NM_001371395.1	NP_001358324.1:p.(Ser691Asn)	NC_000004.11:g.120193087G>A	VUS	1 lab	1dbec2a4da
17:8381768 MYH10 T>G	17	8381768	8381768	T	G	MYH10	c.5598-4A>C	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8381768T>G	(Likely) benign	1 lab	1dbecc47aa
20:57466811 GNAS G>C	20	57466811	57466811	G	C	GNAS	c.30G>C	NM_000516.7	NP_000507.1:p.(Glu10Asp)	NC_000020.10:g.57466811G>C	(Likely) benign	1 lab	1dbefd72f3
3:53820843 CACNA1D G>A	3	53820843	53820843	G	A	CACNA1D	c.4853-6G>A	NM_000720.4	NP_000711.1:p.?	NC_000003.11:g.53820843G>A	(Likely) benign	1 lab	1b50d8247c
2:233759518 NGEF C>T	2	233759518	233759518	C	T	NGEF	c.937G>A	NM_019850.3	NP_062824.2:p.(Glu313Lys)	NC_000002.11:g.233759518C>T	(Likely) benign	1 lab	1dc293171e
22:18301186 MICAL3 C>T	22	18301186	18301186	C	T	MICAL3	c.4241G>A	NM_015241.3	NP_056056.2:p.(Ser1414Asn)	NC_000022.10:g.18301186C>T	VUS	1 lab	1dc3055852
2:39982428 THUMPD2 A>G	2	39982428	39982428	A	G	THUMPD2	c.1078+7T>C	NM_025264.5	NP_079540.2:p.?	NC_000002.11:g.39982428A>G	(Likely) benign	1 lab	1dc373f4df
8:30704522 TEX15 C>T	8	30704522	30704522	C	T	TEX15	c.3161G>A	NM_001350162.2	NP_001337091.1:p.(Ser1054Asn)	NC_000008.10:g.30704522C>T	VUS	1 lab	1dc3ad51c7
X:152958488 SLC6A8 C>G	X	152958488	152958488	C	G	SLC6A8	c.778-8C>G	NM_005629.4	NP_005620.1:p.?	NC_000023.10:g.152958488C>G	VUS	1 lab	1dc4d85251
1:16247461 SPEN G>C	1	16247461	16247461	G	C	SPEN	c.1732G>C	NM_015001.3	NP_055816.2:p.(Gly578Arg)	NC_000001.10:g.16247461G>C	VUS	1 lab	1b513c40f0
12:121437082 HNF1A C>A	12	121437082	121437082	C	A	HNF1A	c.1513C>A	NM_000545.8	NP_000536.6:p.(His505Asn)	NC_000012.11:g.121437082C>A	VUS	1 lab	1dc5226539
1:21889712 ALPL G>A	1	21889712	21889712	G	A	ALPL	c.407G>A	NM_000478.6	NP_000469.3:p.(Arg136His)	NC_000001.10:g.21889712G>A	(Likely) pathogenic	1 lab	1dc704e3e5
15:31775918 OTUD7A GC>G	15	31775918	31775920	GC	G	OTUD7A	c.2380del	NM_001382637.1	NP_001369566.1:p.(Ala794ProfsTer193)	NC_000015.9:g.31775920del	VUS	1 lab	1dc78f2f8d
4:186997992 TLR3 G>A	4	186997992	186997992	G	A	TLR3	c.219G>A	NM_003265.3	NP_003256.1:p.(Arg73=)	NC_000004.11:g.186997992G>A	VUS	1 lab	1dc7aaec69
5:79950727 DHFR G>GCAGCGCCCGCAGCGCCCC	5	79950727	79950736	G	GCAGCGCCCGCAGCGCCCC	DHFR	c.-420_-419insGGGGCGCTGCGGGCGCTG	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950735_79950736insGCAGCGCCCCCAGCGCCC	VUS	1 lab	1dc8ccb311
7:150815430 AGAP3 C>T	7	150815430	150815430	C	T	AGAP3	c.840C>T	NM_031946.7	NP_114152.3:p.(Asp280=)	NC_000007.13:g.150815430C>T	(Likely) benign	1 lab	1dcba5586c
12:48380963 COL2A1 T>G	12	48380963	48380963	T	G	COL2A1	c.1267-4A>C	NM_001844.5	NP_001835.3:p.?	NC_000012.11:g.48380963T>G	VUS	1 lab	1dcbf57afa
19:3544863 MFSD12 A>C	19	3544863	3544863	A	C	MFSD12	c.1364T>G	NM_174983.5	NP_778148.2:p.(Val455Gly)	NC_000019.9:g.3544863A>C	VUS	1 lab	30c436941c
17:3594990 P2RX5 G>A	17	3594990	3594990	G	A	P2RX5	c.236C>T	NM_002561.4	NP_002552.2:p.(Ser79Leu)	NC_000017.10:g.3594990G>A	(Likely) benign	1 lab	1dcc7d3206
9:140130372 SLC34A3 GCCCAGGCCCCTGACAGCCCCCTCGCC>G	9	140130372	140130404	GCCCAGGCCCCTGACAGCCCCCTCGCC	G	SLC34A3	c.1336-25_1336del	NM_001177316.2	NP_001170787.2:p.?	NC_000009.11:g.140130379_140130404del	VUS	1 lab	1dccae2fe0
12:31240868 DDX11 A>C	12	31240868	31240868	A	C	DDX11	c.639-4A>C	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31240868A>C	(Likely) benign	1 lab	1dce80f74c
X:112022431 AMOT AGAGCCGGAGCTGGAACTG>A	X	112022431	112022459	AGAGCCGGAGCTGGAACTG	A	AMOT	c.2933_2950del	NM_001113490.2	NP_001106962.1:p.(Pro978_Ala983del)	NC_000023.10:g.112022442_112022459del	(Likely) benign	1 lab	1dced55e73
10:97453654 TCTN3 C>T	10	97453654	97453654	C	T	TCTN3	c.3G>A	NM_015631.6	NP_056446.4:p.(Met1?)	NC_000010.10:g.97453654C>T	(Likely) pathogenic	1 lab	1b591e836e
X:128922046 SASH3 C>T	X	128922046	128922046	C	T	SASH3	c.153C>T	NM_018990.4	NP_061863.1:p.(Asn51=)	NC_000023.10:g.128922046C>T	VUS	1 lab	1dd19b02d7
12:112321569 MAPKAPK5 G>A	12	112321569	112321569	G	A	MAPKAPK5	c.845G>A	NM_003668.4	NP_003659.2:p.(Arg282Lys)	NC_000012.11:g.112321569G>A	VUS	1 lab	1dd1cbd4b8
2:227985823 COL4A4 GGGTCCAATTGGACCCT>G	2	227985823	227985840	GGGTCCAATTGGACCCT	G	COL4A4	c.218_233del	NM_000092.5	NP_000083.3:p.(Gln73ProfsTer16)	NC_000002.11:g.227985825_227985840del	VUS	1 lab	1dd1d72801
X:150869296 PRRG3 C>CG	X	150869296	150869303	C	CG	PRRG3	c.494dup	NM_001372163.1	NP_001359092.1:p.(Arg166GlnfsTer14)	NC_000023.10:g.150869303dup	VUS	1 lab	1dd1e3c0e1
17:10402312 MYH1 C>A	17	10402312	10402312	C	A	MYH1	c.3963G>T	NM_005963.4	NP_005954.3:p.(Arg1321Ser)	NC_000017.10:g.10402312C>A	VUS	1 lab	1dd41c4c7b
1:228526619 OBSCN G>A	1	228526619	228526619	G	A	OBSCN	c.20021G>A	NM_001386125.1	NP_001373054.1:p.(Ser6674Asn)	NC_000001.10:g.228526619G>A	VUS	1 lab	1dd4dcbad4
19:44273605 KCNN4 G>A	19	44273605	44273605	G	A	KCNN4	c.1038C>T	NM_002250.3	NP_002241.1:p.(Ala346=)	NC_000019.9:g.44273605G>A	(Likely) benign	1 lab	1b5abfae52
X:44703940 DUSP21 A>G	X	44703940	44703940	A	G	DUSP21	c.562A>G	NM_022076.4	NP_071359.3:p.(Ile188Val)	NC_000023.10:g.44703940A>G	(Likely) benign	1 lab	1dd66c1193
X:47085415 CDK16 C>T	X	47085415	47085415	C	T	CDK16	c.781C>T	NM_006201.5	NP_006192.1:p.(His261Tyr)	NC_000023.10:g.47085415C>T	VUS	1 lab	1dd67b14e7
11:122944438 CLMP G>A	11	122944438	122944438	G	A	CLMP	c.866C>T	NM_024769.5	NP_079045.1:p.(Ser289Phe)	NC_000011.9:g.122944438G>A	VUS	1 lab	1dd6caaedd
16:77353984 ADAMTS18 T>C	16	77353984	77353984	T	C	ADAMTS18	c.2294A>G	NM_199355.4	NP_955387.1:p.(Tyr765Cys)	NC_000016.9:g.77353984T>C	VUS	1 lab	1dd72dda83
6:42023259 TAF8 C>G	6	42023259	42023259	C	G	TAF8	c.203-10C>G	NM_138572.3	NP_612639.2:p.?	NC_000006.11:g.42023259C>G	VUS	1 lab	1dd83bc0ad
12:438128 KDM5A TCGTGTGAAAAGACA>T	12	438128	438143	TCGTGTGAAAAGACA	T	KDM5A	c.1827_1840del	NM_001042603.3	NP_001036068.1:p.(Cys609Ter)	NC_000012.11:g.438130_438143del	VUS	1 lab	1ddc136352
5:112176022 APC ATG>A	5	112176022	112176025	ATG	A	APC	c.4733_4734del	NM_000038.6	NP_000029.2:p.(Cys1578TyrfsTer12)	NC_000005.9:g.112176024_112176025del	(Likely) pathogenic	1 lab	1ddde51789
1:231829752 DISC1 C>T	1	231829752	231829752	C	T	DISC1	c.248C>T	NM_018662.3	NP_061132.2:p.(Ala83Val)	NC_000001.10:g.231829752C>T	(Likely) benign	1 lab	1de1f0e0a3
5:89979796 ADGRV1 G>A	5	89979796	89979796	G	A	ADGRV1	c.6058G>A	NM_032119.4	NP_115495.3:p.(Asp2020Asn)	NC_000005.9:g.89979796G>A	(Likely) benign	1 lab	1de3a54ffb
2:152511786 NEB GACTATA>G	2	152511786	152511792	GACTATA	G	NEB	c.6799_6804del	NM_001164508.2	NP_001157980.2:p.(Tyr2267_Ser2268del)	NC_000002.11:g.152511787_152511792del	VUS	1 lab	1de4faa0ee
2:180843047 CWC22 T>TA	2	180843047	180843052	T	TA	CWC22	c.453-3dup	NM_020943.3	NP_065994.1:p.?	NC_000002.11:g.180843052dup	VUS	1 lab	1dffa72929
11:100221601 CNTN5 G>T	11	100221601	100221601	G	T	CNTN5	c.3199G>T	NM_014361.4	NP_055176.1:p.(Gly1067Cys)	NC_000011.9:g.100221601G>T	VUS	1 lab	1de52956ae
2:27706217 IFT172 C>G	2	27706217	27706217	C	G	IFT172	c.509G>C	NM_015662.3	NP_056477.1:p.(Gly170Ala)	NC_000002.11:g.27706217C>G	VUS	1 lab	1de694ee5a
11:18762297 PTPN5 C>T	11	18762297	18762297	C	T	PTPN5	c.768G>A	NM_006906.2	NP_008837.1:p.(Pro256=)	NC_000011.9:g.18762297C>T	(Likely) benign	1 lab	1de807a109
12:80712425 OTOGL G>A	12	80712425	80712425	G	A	OTOGL	c.3734G>A	NM_001378609.3	NP_001365538.2:p.(Ser1245Asn)	NC_000012.11:g.80712425G>A	(Likely) benign	1 lab	1de87c0796
20:43034873 HNF4A G>T	20	43034873	43034873	G	T	HNF4A	c.290+1G>T	NM_000457.5	NP_000448.3:p.?	NC_000020.10:g.43034873G>T	(Likely) pathogenic	1 lab	1de8932d85
11:113270478 ANKK1 C>T	11	113270478	113270478	C	T	ANKK1	c.1787C>T	NM_178510.2	NP_848605.1:p.(Pro596Leu)	NC_000011.9:g.113270478C>T	VUS	1 lab	1de9124f83
17:62474079 POLG2 G>A	17	62474079	62474079	G	A	POLG2	c.1319C>T	NM_007215.4	NP_009146.2:p.(Thr440Ile)	NC_000017.10:g.62474079G>A	VUS	1 lab	1de99893af
X:6451799 VCX3A A>AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	X	6451799	6451863	A	AGTTCTTCCATCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTG	VCX3A	c.488_547dup	NM_016379.4	NP_057463.2:p.(Pro163_Glu182dup)	NC_000023.10:g.6451804_6451863dup	VUS	1 lab	1de9fa7991
1:242023958 EXO1 A>G	1	242023958	242023958	A	G	EXO1	c.896A>G	NM_130398.4	NP_569082.2:p.(Asn299Ser)	NC_000001.10:g.242023958A>G	(Likely) benign	1 lab	1dec6a7dcc
9:139571465 AGPAT2 C>A	9	139571465	139571465	C	A	AGPAT2	c.440G>T	NM_006412.4	NP_006403.2:p.(Ser147Ile)	NC_000009.11:g.139571465C>A	(Likely) benign	1 lab	1ded6949dc
17:41244328 BRCA1 T>C	17	41244328	41244328	T	C	BRCA1	c.3220A>G	NM_007294.4	NP_009225.1:p.(Arg1074Gly)	NC_000017.10:g.41244328T>C	(Likely) benign	1 lab	1ded905a4e
8:121357765 COL14A1 C>T	8	121357765	121357765	C	T	COL14A1	c.5040C>T	NM_021110.4	NP_066933.1:p.(Pro1680=)	NC_000008.10:g.121357765C>T	(Likely) benign	1 lab	1dee5620a1
1:182856561 DHX9 G>A	1	182856561	182856561	G	A	DHX9	c.3805G>A	NM_001357.5	NP_001348.2:p.(Gly1269Ser)	NC_000001.10:g.182856561G>A	(Likely) benign	1 lab	1df028863b
19:11346400 DOCK6 G>C	19	11346400	11346400	G	C	DOCK6	c.2428C>G	NM_020812.4	NP_065863.2:p.(His810Asp)	NC_000019.9:g.11346400G>C	(Likely) benign	1 lab	1df0f29931
1:104078071 RNPC3 G>C	1	104078071	104078071	G	C	RNPC3	c.555+8G>C	NM_017619.4	NP_060089.1:p.?	NC_000001.10:g.104078071G>C	(Likely) benign	1 lab	1df5a4a1bf
X:21874625 MBTPS2 C>G	X	21874625	21874625	C	G	MBTPS2	c.670+3004C>G	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21874625C>G	(Likely) benign	1 lab	1df5ab6c6f
12:48376906 COL2A1 T>G	12	48376906	48376906	T	G	COL2A1	c.2064A>C	NM_001844.5	NP_001835.3:p.(Glu688Asp)	NC_000012.11:g.48376906T>G	VUS	1 lab	1df5b21a98
6:157495172 ARID1B C>T	6	157495172	157495172	C	T	ARID1B	c.3266C>T	NM_001374828.1	NP_001361757.1:p.(Pro1089Leu)	NC_000006.11:g.157495172C>T	(Likely) benign	1 lab	1df5bacc58
19:49967913 ALDH16A1 T>A	19	49967913	49967913	T	A	ALDH16A1	c.1462T>A	NM_153329.4	NP_699160.2:p.(Ser488Thr)	NC_000019.9:g.49967913T>A	VUS	1 lab	1df6885e49
18:28906928 DSG1 G>A	18	28906928	28906928	G	A	DSG1	c.176G>A	NM_001942.4	NP_001933.2:p.(Arg59His)	NC_000018.9:g.28906928G>A	VUS	1 lab	1df6a51818
5:178419033 GRM6 G>A	5	178419033	178419033	G	A	GRM6	c.556C>T	NM_000843.4	NP_000834.2:p.(Arg186Cys)	NC_000005.9:g.178419033G>A	VUS	1 lab	1df6dd0460
7:95157533 ASB4 G>A	7	95157533	95157533	G	A	ASB4	c.896G>A	NM_016116.3	NP_057200.1:p.(Arg299His)	NC_000007.13:g.95157533G>A	VUS	1 lab	1df80346b9
3:113187979 SPICE1 G>A	3	113187979	113187979	G	A	SPICE1	c.718C>T	NM_144718.4	NP_653319.1:p.(Pro240Ser)	NC_000003.11:g.113187979G>A	(Likely) benign	1 lab	1df9abcabb
1:40697287 RLF C>T	1	40697287	40697287	C	T	RLF	c.1046C>T	NM_012421.4	NP_036553.2:p.(Thr349Met)	NC_000001.10:g.40697287C>T	VUS	1 lab	1dfb0d5143
4:1801455 FGFR3 G>A	4	1801455	1801455	G	A	FGFR3	c.380-19G>A	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1801455G>A	VUS	1 lab	1dfe1d29bc
3:52438990 BAP1 A>G	3	52438990	52438990	A	G	BAP1	c.1116+136T>C	NM_004656.4	NP_004647.1:p.?	NC_000003.11:g.52438990A>G	(Likely) benign	1 lab	1dff735c1a
6:31833153 SLC44A4 C>T	6	31833153	31833153	C	T	SLC44A4	c.1699G>A	NM_025257.3	NP_079533.2:p.(Gly567Arg)	NC_000006.11:g.31833153C>T	(Likely) benign	1 lab	1e0004e38e
4:69519874 UGT2B15 C>T	4	69519874	69519874	C	T	UGT2B15	c.1194G>A	NM_001076.4	NP_001067.2:p.(Ala398=)	NC_000004.11:g.69519874C>T	(Likely) benign	1 lab	1e01d4af7f
1:3649545 TP73 G>A	1	3649545	3649545	G	A	TP73	c.1813G>A	NM_005427.4	NP_005418.1:p.(Gly605Ser)	NC_000001.10:g.3649545G>A	VUS	1 lab	1e01df5864
3:194175124 ATP13A3 A>G	3	194175124	194175124	A	G	ATP13A3	c.631-3T>C	NM_001367549.1	NP_001354478.1:p.?	NC_000003.11:g.194175124A>G	(Likely) benign	1 lab	1e02c5a58a
19:45900039 PPP1R13L G>A	19	45900039	45900039	G	A	PPP1R13L	c.476C>T	NM_006663.4	NP_006654.2:p.(Pro159Leu)	NC_000019.9:g.45900039G>A	VUS	1 lab	1e030aa3d7
12:13717474 GRIN2B G>A	12	13717474	13717474	G	A	GRIN2B	c.2698C>T	NM_000834.5	NP_000825.2:p.(Arg900Cys)	NC_000012.11:g.13717474G>A	VUS	1 lab	1b5a6cd93c
9:139292802 SNAPC4 C>T	9	139292802	139292802	C	T	SNAPC4	c.79G>A	NM_003086.4	NP_003077.2:p.(Gly27Ser)	NC_000009.11:g.139292802C>T	VUS	1 lab	1e0ad08538
1:155450918 ASH1L A>C	1	155450918	155450918	A	C	ASH1L	c.1743T>G	NM_018489.3	NP_060959.2:p.(Asn581Lys)	NC_000001.10:g.155450918A>C	(Likely) benign	1 lab	1e0c02e81d
5:14387663 TRIO A>C	5	14387663	14387663	A	C	TRIO	c.3687A>C	NM_007118.4	NP_009049.2:p.(Arg1229Ser)	NC_000005.9:g.14387663A>C	VUS	1 lab	1e0ca0784c
11:82877475 PCF11 A>G	11	82877475	82877475	A	G	PCF11	c.1536A>G	NM_001346413.3	NP_001333342.1:p.(Pro512=)	NC_000011.9:g.82877475A>G	(Likely) benign	1 lab	1e0d531dde
1:10032189 NMNAT1 A>G	1	10032189	10032189	A	G	NMNAT1	c.58A>G	NM_022787.4	NP_073624.2:p.(Ile20Val)	NC_000001.10:g.10032189A>G	VUS	1 lab	1e0ea06e48
X:103495144 ESX1 CGCGCCATGGGCGGCCCGGGTGGCACAG>C	X	103495144	103495189	CGCGCCATGGGCGGCCCGGGTGGCACAG	C	ESX1	c.959_985del	NM_153448.4	NP_703149.1:p.(Pro320_Ala328del)	NC_000023.10:g.103495163_103495189del	VUS	1 lab	1e0fae2cda
2:27448016 CAD A>G	2	27448016	27448016	A	G	CAD	c.1525A>G	NM_004341.5	NP_004332.2:p.(Ile509Val)	NC_000002.11:g.27448016A>G	VUS	1 lab	1e0fb98175
16:3820692 CREBBP G>A	16	3820692	3820692	G	A	CREBBP	c.2759C>T	NM_004380.3	NP_004371.2:p.(Ala920Val)	NC_000016.9:g.3820692G>A	VUS	1 lab	1e12409549
7:21639487 DNAH11 A>T	7	21639487	21639487	A	T	DNAH11	c.2750A>T	NM_001277115.2	NP_001264044.1:p.(Glu917Val)	NC_000007.13:g.21639487A>T	(Likely) benign	1 lab	1e124d5dde
18:31319879 ASXL3 C>T	18	31319879	31319879	C	T	ASXL3	c.2511C>T	NM_030632.3	NP_085135.1:p.(Thr837=)	NC_000018.9:g.31319879C>T	(Likely) benign	1 lab	1e141c0234
19:39002724 RYR1 C>T	19	39002724	39002724	C	T	RYR1	c.9185C>T	NM_000540.3	NP_000531.2:p.(Pro3062Leu)	NC_000019.9:g.39002724C>T	(Likely) benign	1 lab	1e15d9a58f
10:94362582 KIF11 C>CGTGT	10	94362582	94362613	C	CGTGT	KIF11	c.78-3412_78-3409dup	NM_004523.4	NP_004514.2:p.?	NC_000010.10:g.94362610_94362613dup	(Likely) benign	1 lab	1e173a4485
15:33952609 RYR3 T>A	15	33952609	33952609	T	A	RYR3	c.4607T>A	NM_001036.6	NP_001027.3:p.(Ile1536Asn)	NC_000015.9:g.33952609T>A	VUS	1 lab	1e17ad6531
12:56349571 PMEL G>T	12	56349571	56349571	G	T	PMEL	c.1548C>A	NM_001384361.1	NP_001371290.1:p.(Cys516Ter)	NC_000012.11:g.56349571G>T	VUS	1 lab	1e18cfd9a3
5:156738669 CYFIP2 C>G	5	156738669	156738669	C	G	CYFIP2	c.993-3C>G	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156738669C>G	VUS	1 lab	1b5b7f9905
4:3129185 HTT A>G	4	3129185	3129185	A	G	HTT	c.1597A>G	NM_001388492.1	NP_001375421.1:p.(Ser533Gly)	NC_000004.11:g.3129185A>G	VUS	1 lab	1e1b9a5d9e
10:122619674 WDR11 C>T	10	122619674	122619674	C	T	WDR11	c.406C>T	NM_018117.12	NP_060587.8:p.(His136Tyr)	NC_000010.10:g.122619674C>T	VUS	1 lab	1b5e40a557
16:57562541 CCDC102A C>T	16	57562541	57562541	C	T	CCDC102A	c.549G>A	NM_033212.4	NP_149989.2:p.(Val183=)	NC_000016.9:g.57562541C>T	(Likely) benign	1 lab	1e1dfb5945
8:99142441 POP1 G>A	8	99142441	99142441	G	A	POP1	c.722G>A	NM_001145860.2	NP_001139332.1:p.(Arg241Gln)	NC_000008.10:g.99142441G>A	(Likely) benign	1 lab	1e1e0d0bd4
X:15768277 CA5B G>A	X	15768277	15768277	G	A	CA5B	c.131G>A	NM_007220.4	NP_009151.1:p.(Arg44Gln)	NC_000023.10:g.15768277G>A	VUS	1 lab	1e1eb6c5ec
22:41545951 EP300 GCAA>G	22	41545951	41545960	GCAA	G	EP300	c.2573_2575del	NM_001429.4	NP_001420.2:p.(Thr858del)	NC_000022.10:g.41545958_41545960del	(Likely) benign	1 lab	1e1f817a96
8:110539175 PKHD1L1 T>A	8	110539175	110539175	T	A	PKHD1L1	c.12647T>A	NM_177531.6	NP_803875.2:p.(Ile4216Asn)	NC_000008.10:g.110539175T>A	(Likely) benign	1 lab	1e1fdfd0d7
17:79682762 SLC25A10 T>TCAAA	17	79682762	79682766	T	TCAAA	SLC25A10	c.371_372insACAA	NM_012140.5	NP_036272.2:p.(Asn124LysfsTer32)	NC_000017.10:g.79682765_79682766insACAA	VUS	1 lab	1e20993117
19:47349331 AP2S1 A>G	19	47349331	47349331	A	G	AP2S1	c.72T>C	NM_004069.6	NP_004060.2:p.(Asp24=)	NC_000019.9:g.47349331A>G	(Likely) benign	1 lab	1e21070b24
13:110863995 COL4A1 T>G	13	110863995	110863995	T	G	COL4A1	c.467A>C	NM_001845.6	NP_001836.3:p.(Lys156Thr)	NC_000013.10:g.110863995T>G	VUS	1 lab	1e21240a1b
13:21565434 LATS2 C>T	13	21565434	21565434	C	T	LATS2	c.452G>A	NM_014572.3	NP_055387.2:p.(Arg151Gln)	NC_000013.10:g.21565434C>T	VUS	1 lab	1e249898db
2:135920152 RAB3GAP1 C>T	2	135920152	135920152	C	T	RAB3GAP1	c.2317C>T	NM_012233.3	NP_036365.1:p.(Pro773Ser)	NC_000002.11:g.135920152C>T	VUS	1 lab	1e29fdae7c
1:19419930 UBR4 C>G	1	19419930	19419930	C	G	UBR4	c.13988G>C	NM_020765.3	NP_065816.2:p.(Cys4663Ser)	NC_000001.10:g.19419930C>G	VUS	1 lab	1b61caf6db
X:152857957 CCNQ A>T	X	152857957	152857957	A	T	CCNQ	c.657+7T>A	NM_152274.5	NP_689487.2:p.?	NC_000023.10:g.152857957A>T	(Likely) benign	1 lab	1e2c0446f0
11:6662342 DCHS1 C>T	11	6662342	6662342	C	T	DCHS1	c.503G>A	NM_003737.4	NP_003728.1:p.(Arg168His)	NC_000011.9:g.6662342C>T	(Likely) benign	1 lab	1e2cf1ba80
8:1905088 ARHGEF10 C>A	8	1905088	1905088	C	A	ARHGEF10	c.3694C>A	NM_014629.2	NP_055444.2:p.(Leu1232Met)	NC_000008.10:g.1905088C>A	(Likely) benign	1 lab	1b60830e81
19:38796098 YIF1B AC>A	19	38796098	38796103	AC	A	YIF1B	c.838del	NM_001039672.3	NP_001034761.1:p.(Val280SerfsTer14)	NC_000019.9:g.38796103del	VUS	1 lab	1e2ed5e399
14:25043934 CTSG G>A	14	25043934	25043934	G	A	CTSG	c.286C>T	NM_001911.3	NP_001902.1:p.(Arg96Cys)	NC_000014.8:g.25043934G>A	(Likely) benign	1 lab	1e2f7b2feb
5:140768982 PCDHGB4 G>A	5	140768982	140768982	G	A	PCDHGB4	c.1531G>A	NM_003736.4	NP_003727.1:p.(Val511Met)	NC_000005.9:g.140768982G>A	VUS	1 lab	1e30b1bafe
5:154311021 GEMIN5 G>A	5	154311021	154311021	G	A	GEMIN5	c.778C>T	NM_015465.5	NP_056280.2:p.(Arg260Ter)	NC_000005.9:g.154311021G>A	VUS	1 lab	1e31157385
5:131930554 RAD50 A>C	5	131930554	131930554	A	C	RAD50	c.1794-7A>C	NM_005732.4	NP_005723.2:p.?	NC_000005.9:g.131930554A>C	VUS	1 lab	1e3191472b
3:188426077 LPP G>A	3	188426077	188426077	G	A	LPP	c.1136G>A	NM_005578.5	NP_005569.1:p.(Gly379Glu)	NC_000003.11:g.188426077G>A	(Likely) benign	1 lab	1b62358cc7
1:11288877 MTOR G>A	1	11288877	11288877	G	A	MTOR	c.2878C>T	NM_004958.4	NP_004949.1:p.(Arg960Ter)	NC_000001.10:g.11288877G>A	VUS	1 lab	1b62f315b4
2:238267847 COL6A3 A>G	2	238267847	238267847	A	G	COL6A3	c.6354+2T>C	NM_004369.4	NP_004360.2:p.?	NC_000002.11:g.238267847A>G	(Likely) pathogenic	1 lab	1b65d56a8e
7:141778254 MGAM G>A	7	141778254	141778254	G	A	MGAM	c.5630G>A	NM_001365693.1	NP_001352622.1:p.(Arg1877His)	NC_000007.13:g.141778254G>A	(Likely) benign	1 lab	1e385e31ea
11:114182996 NNMT G>A	11	114182996	114182996	G	A	NNMT	c.592G>A	NM_006169.3	NP_006160.1:p.(Ala198Thr)	NC_000011.9:g.114182996G>A	VUS	1 lab	1e39d813a8
4:5812670 EVC CTGTTT>C	4	5812670	5812676	CTGTTT	C	EVC	c.2895-8_2895-4del	NM_153717.3	NP_714928.1:p.?	NC_000004.11:g.5812672_5812676del	(Likely) benign	1 lab	1e3a756b12
16:3820894 CREBBP G>T	16	3820894	3820894	G	T	CREBBP	c.2557C>A	NM_004380.3	NP_004371.2:p.(Leu853Met)	NC_000016.9:g.3820894G>T	VUS	1 lab	3115f313d7
3:105397401 CBLB C>G	3	105397401	105397401	C	G	CBLB	c.2443G>C	NM_170662.5	NP_733762.2:p.(Asp815His)	NC_000003.11:g.105397401C>G	VUS	1 lab	1e3b08d84c
11:837976 CD151 A>G	11	837976	837976	A	G	CD151	c.650A>G	NM_004357.5	NP_004348.2:p.(Gln217Arg)	NC_000011.9:g.837976A>G	(Likely) benign	1 lab	1e3b7c23ec
7:77649189 MAGI2 C>T	7	77649189	77649189	C	T	MAGI2	c.3811G>A	NM_012301.4	NP_036433.2:p.(Ala1271Thr)	NC_000007.13:g.77649189C>T	VUS	1 lab	1e3d273b9f
7:65439951 GUSB C>T	7	65439951	65439951	C	T	GUSB	c.1020G>A	NM_000181.4	NP_000172.2:p.(Gly340=)	NC_000007.13:g.65439951C>T	(Likely) benign	1 lab	1e3dc3965f
2:220326655 SPEG T>A	2	220326655	220326655	T	A	SPEG	c.2492T>A	NM_005876.5	NP_005867.3:p.(Leu831Gln)	NC_000002.11:g.220326655T>A	VUS	1 lab	1e3e93bae7
20:34797632 EPB41L1 A>G	20	34797632	34797632	A	G	EPB41L1	c.1891A>G	NM_012156.2	NP_036288.2:p.(Ser631Gly)	NC_000020.10:g.34797632A>G	(Likely) benign	1 lab	1e3eaefa5d
3:42729787 KLHL40 G>A	3	42729787	42729787	G	A	KLHL40	c.1306G>A	NM_152393.4	NP_689606.2:p.(Asp436Asn)	NC_000003.11:g.42729787G>A	VUS	1 lab	1e3fc12217
19:41117886 LTBP4 C>T	19	41117886	41117886	C	T	LTBP4	c.2175C>T	NM_001042545.2	NP_001036010.1:p.(Cys725=)	NC_000019.9:g.41117886C>T	(Likely) benign	1 lab	1e40052ae5
7:44189378 GCK G>A	7	44189378	44189378	G	A	GCK	c.660C>T	NM_000162.5	NP_000153.1:p.(Cys220=)	NC_000007.13:g.44189378G>A	(Likely) benign	1 lab	1e41c6d660
16:67685694 CARMIL2 G>A	16	67685694	67685694	G	A	CARMIL2	c.2534G>A	NM_001013838.3	NP_001013860.1:p.(Gly845Asp)	NC_000016.9:g.67685694G>A	(Likely) benign	1 lab	1b66afec3d
7:128829117 SMO G>A	7	128829117	128829117	G	A	SMO	c.125G>A	NM_005631.5	NP_005622.1:p.(Arg42Gln)	NC_000007.13:g.128829117G>A	(Likely) benign	1 lab	1e4349ce32
6:121526236 TBC1D32 T>C	6	121526236	121526236	T	C	TBC1D32	c.2555A>G	NM_152730.6	NP_689943.4:p.(His852Arg)	NC_000006.11:g.121526236T>C	VUS	1 lab	1e4421932a
9:32631262 TAF1L A>G	9	32631262	32631262	A	G	TAF1L	c.4316T>C	NM_153809.2	NP_722516.1:p.(Ile1439Thr)	NC_000009.11:g.32631262A>G	(Likely) benign	1 lab	1e44ee127e
17:79813145 P4HB G>A	17	79813145	79813145	G	A	P4HB	c.497C>T	NM_000918.4	NP_000909.2:p.(Ser166Leu)	NC_000017.10:g.79813145G>A	VUS	1 lab	1e46d28e2e
17:8701244 MFSD6L C>T	17	8701244	8701244	C	T	MFSD6L	c.1195G>A	NM_152599.4	NP_689812.3:p.(Gly399Ser)	NC_000017.10:g.8701244C>T	(Likely) benign	1 lab	1e47bf24c0
21:33371240 HUNK C>T	21	33371240	33371240	C	T	HUNK	c.1888C>T	NM_014586.2	NP_055401.1:p.(Pro630Ser)	NC_000021.8:g.33371240C>T	(Likely) benign	1 lab	1e47c20f1d
8:104709424 RIMS2 A>G	8	104709424	104709424	A	G	RIMS2	c.407A>G	NM_001348484.3	NP_001335413.1:p.(His136Arg)	NC_000008.10:g.104709424A>G	VUS	1 lab	1e4acb604d
16:774166 CCDC78 G>C	16	774166	774166	G	C	CCDC78	c.993C>G	NM_001378030.1	NP_001364959.1:p.(Ser331Arg)	NC_000016.9:g.774166G>C	VUS	1 lab	1e4b6d5bdb
9:139326290 INPP5E C>T	9	139326290	139326290	C	T	INPP5E	c.1535G>A	NM_019892.6	NP_063945.2:p.(Arg512Gln)	NC_000009.11:g.139326290C>T	VUS	1 lab	1e4bc07284
2:182543263 NEUROD1 G>A	2	182543263	182543263	G	A	NEUROD1	c.325C>T	NM_002500.5	NP_002491.3:p.(Arg109Trp)	NC_000002.11:g.182543263G>A	VUS	1 lab	1e4d84a582
1:228506661 OBSCN G>A	1	228506661	228506661	G	A	OBSCN	c.17079G>A	NM_001386125.1	NP_001373054.1:p.(Leu5693=)	NC_000001.10:g.228506661G>A	(Likely) benign	1 lab	1e4d8f1892
2:111430239 BUB1 T>C	2	111430239	111430239	T	C	BUB1	c.421A>G	NM_004336.5	NP_004327.1:p.(Arg141Gly)	NC_000002.11:g.111430239T>C	VUS	1 lab	1e4da34b22
22:41543954 EP300 A>G	22	41543954	41543954	A	G	EP300	c.2241+4A>G	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41543954A>G	VUS	1 lab	1e4ebae278
15:75649021 MAN2C1 C>T	15	75649021	75649021	C	T	MAN2C1	c.2663G>A	NM_006715.4	NP_006706.2:p.(Arg888Gln)	NC_000015.9:g.75649021C>T	VUS	1 lab	1e4ebb3dad
14:50745274 L2HGDH TG>T	14	50745274	50745275	TG	T	L2HGDH	c.704-3del	NM_024884.3	NP_079160.1:p.?	NC_000014.8:g.50745275del	VUS	1 lab	1e4f29b4df
20:34797462 EPB41L1 G>A	20	34797462	34797462	G	A	EPB41L1	c.1721G>A	NM_012156.2	NP_036288.2:p.(Arg574Gln)	NC_000020.10:g.34797462G>A	(Likely) benign	1 lab	1e4fa0dc61
11:31815633 PAX6 A>G	11	31815633	31815633	A	G	PAX6	c.754T>C	NM_001368894.2	NP_001355823.1:p.(Phe252Leu)	NC_000011.9:g.31815633A>G	VUS	1 lab	1e4ff214d1
12:7188377 C1R A>G	12	7188377	7188377	A	G	C1R	c.1577T>C	NM_001733.7	NP_001724.4:p.(Val526Ala)	NC_000012.11:g.7188377A>G	(Likely) benign	1 lab	1e50ad04c3
10:105197800 PDCD11 G>A	10	105197800	105197800	G	A	PDCD11	c.3874G>A	NM_014976.2	NP_055791.1:p.(Val1292Ile)	NC_000010.10:g.105197800G>A	(Likely) benign	1 lab	1e50fddf03
14:64537570 SYNE2 G>T	14	64537570	64537570	G	T	SYNE2	c.10639G>T	NM_182914.3	NP_878918.2:p.(Ala3547Ser)	NC_000014.8:g.64537570G>T	(Likely) benign	1 lab	1e526640d7
19:7267523 INSR C>T	19	7267523	7267523	C	T	INSR	c.485G>A	NM_000208.4	NP_000199.2:p.(Arg162His)	NC_000019.9:g.7267523C>T	(Likely) benign	1 lab	1e557f129a
19:18256584 MAST3 C>T	19	18256584	18256584	C	T	MAST3	c.3071C>T	NM_001393504.1	NP_001380433.1:p.(Ala1024Val)	NC_000019.9:g.18256584C>T	(Likely) benign	1 lab	1e5599f5df
3:169566042 LRRC31 A>G	3	169566042	169566042	A	G	LRRC31	c.1193T>C	NM_024727.4	NP_079003.2:p.(Val398Ala)	NC_000003.11:g.169566042A>G	(Likely) benign	1 lab	1e627eb631
8:28304712 FBXO16 AGTTCT>A	8	28304712	28304719	AGTTCT	A	FBXO16	c.814_818del	NM_172366.4	NP_758954.1:p.(Arg272Ter)	NC_000008.10:g.28304715_28304719del	(Likely) benign	1 lab	1e57f30cf9
21:33060689 SCAF4 T>C	21	33060689	33060689	T	C	SCAF4	c.1974A>G	NM_020706.2	NP_065757.1:p.(Ile658Met)	NC_000021.8:g.33060689T>C	(Likely) benign	1 lab	1e58e7ae87
X:135580031 HTATSF1 TAGG>T	X	135580031	135580036	TAGG	T	HTATSF1	c.186+5_186+7del	NM_014500.5	NP_055315.2:p.?	NC_000023.10:g.135580034_135580036del	(Likely) benign	1 lab	1e5997b62d
7:11014567 PHF14 C>T	7	11014567	11014567	C	T	PHF14	c.107C>T	NM_001007157.2	NP_001007158.1:p.(Ala36Val)	NC_000007.13:g.11014567C>T	(Likely) benign	1 lab	1e5a6f7fcf
17:36895369 PCGF2 C>T	17	36895369	36895369	C	T	PCGF2	c.268G>A	NM_007144.3	NP_009075.1:p.(Glu90Lys)	NC_000017.10:g.36895369C>T	VUS	1 lab	1e5c02e6c5
22:41548223 EP300 A>T	22	41548223	41548223	A	T	EP300	c.3011A>T	NM_001429.4	NP_001420.2:p.(Asp1004Val)	NC_000022.10:g.41548223A>T	VUS	1 lab	1e5ca1ab70
15:60803482 RORA G>A	15	60803482	60803482	G	A	RORA	c.763C>T	NM_134261.3	NP_599023.1:p.(Pro255Ser)	NC_000015.9:g.60803482G>A	VUS	1 lab	1e5d682e4b
7:21654749 DNAH11 G>C	7	21654749	21654749	G	C	DNAH11	c.3870G>C	NM_001277115.2	NP_001264044.1:p.(Glu1290Asp)	NC_000007.13:g.21654749G>C	VUS	1 lab	1e5ddf0370
14:91739178 CCDC88C G>A	14	91739178	91739178	G	A	CCDC88C	c.5878C>T	NM_001080414.4	NP_001073883.2:p.(Leu1960Phe)	NC_000014.8:g.91739178G>A	(Likely) benign	1 lab	1e5e1337ee
22:41282308 XPNPEP3 C>T	22	41282308	41282308	C	T	XPNPEP3	c.590-9C>T	NM_022098.4	NP_071381.1:p.?	NC_000022.10:g.41282308C>T	(Likely) benign	1 lab	1b66c1f7ee
12:120152113 CIT T>C	12	120152113	120152113	T	C	CIT	c.4195A>G	NM_001206999.2	NP_001193928.1:p.(Met1399Val)	NC_000012.11:g.120152113T>C	(Likely) benign	1 lab	1e605a5405
2:175624353 CHRNA1 C>G	2	175624353	175624353	C	G	CHRNA1	c.52G>C	NM_000079.4	NP_000070.1:p.(Val18Leu)	NC_000002.11:g.175624353C>G	VUS	1 lab	1e60b4bd18
1:47716826 STIL C>A	1	47716826	47716826	C	A	STIL	c.3849G>T	NM_001048166.1	NP_001041631.1:p.(Gln1283His)	NC_000001.10:g.47716826C>A	VUS	1 lab	1e60fb175c
X:77913622 RTL3 G>A	X	77913622	77913622	G	A	RTL3	c.296C>T	NM_152694.3	NP_689907.1:p.(Pro99Leu)	NC_000023.10:g.77913622G>A	VUS	1 lab	1ea6920e76
10:103433353 FBXW4 C>T	10	103433353	103433353	C	T	FBXW4	c.899G>A	NM_022039.4	NP_071322.2:p.(Arg300His)	NC_000010.10:g.103433353C>T	(Likely) benign	1 lab	1e62deda73
16:2165538 PKD1 C>T	16	2165538	2165538	C	T	PKD1	c.1938G>A	NM_001009944.3	NP_001009944.3:p.(Trp646Ter)	NC_000016.9:g.2165538C>T	(Likely) pathogenic	1 lab	1e64abf775
11:77823798 ALG8 A>C	11	77823798	77823798	A	C	ALG8	c.796T>G	NM_024079.5	NP_076984.2:p.(Phe266Val)	NC_000011.9:g.77823798A>C	(Likely) benign	1 lab	1e655695db
16:9858033 GRIN2A T>G	16	9858033	9858033	T	G	GRIN2A	c.3368A>C	NM_001134407.3	NP_001127879.1:p.(Glu1123Ala)	NC_000016.9:g.9858033T>G	VUS	1 lab	1e6693ca0b
17:8136302 CTC1 G>T	17	8136302	8136302	G	T	CTC1	c.1867C>A	NM_025099.6	NP_079375.3:p.(Leu623Ile)	NC_000017.10:g.8136302G>T	VUS	1 lab	1e67d31264
6:32797189 TAP2 C>T	6	32797189	32797189	C	T	TAP2	c.1920G>A	NM_000544.3	NP_000535.3:p.(Gln640=)	NC_000006.11:g.32797189C>T	(Likely) benign	1 lab	1b68de889c
X:21875648 MBTPS2 A>G	X	21875648	21875648	A	G	MBTPS2	c.670+4027A>G	NM_015884.4	NP_056968.1:p.?	NC_000023.10:g.21875648A>G	VUS	1 lab	1e68dc514a
18:55319367 ATP8B1 G>A	18	55319367	55319367	G	A	ATP8B1	c.3299C>T	NM_001374385.1	NP_001361314.1:p.(Ala1100Val)	NC_000018.9:g.55319367G>A	(Likely) benign	1 lab	1e690e3298
X:100912141 ARMCX2 A>G	X	100912141	100912141	A	G	ARMCX2	c.434T>C	NM_177949.4	NP_808818.1:p.(Val145Ala)	NC_000023.10:g.100912141A>G	(Likely) benign	1 lab	1e69e2f432
X:79698615 TENT5D A>G	X	79698615	79698615	A	G	TENT5D	c.577A>G	NM_152630.5	NP_689843.1:p.(Lys193Glu)	NC_000023.10:g.79698615A>G	(Likely) benign	1 lab	1e6a3714a4
16:2165976 PKD1 A>C	16	2165976	2165976	A	C	PKD1	c.1849+17T>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2165976A>C	(Likely) benign	1 lab	1e6acd64f3
8:145639654 SLC39A4 T>C	8	145639654	145639654	T	C	SLC39A4	c.1141A>G	NM_130849.4	NP_570901.3:p.(Thr381Ala)	NC_000008.10:g.145639654T>C	(Likely) benign	1 lab	1b6d9d9f1c
6:117232160 RFX6 C>G	6	117232160	117232160	C	G	RFX6	c.735C>G	NM_173560.4	NP_775831.2:p.(Pro245=)	NC_000006.11:g.117232160C>G	(Likely) benign	1 lab	1e6e74d3ae
10:13698887 FRMD4A G>A	10	13698887	13698887	G	A	FRMD4A	c.2702C>T	NM_018027.5	NP_060497.3:p.(Ser901Leu)	NC_000010.10:g.13698887G>A	VUS	1 lab	1e704f2dd9
X:114425192 RBMXL3 G>A	X	114425192	114425192	G	A	RBMXL3	c.1188G>A	NM_001145346.2	NP_001138818.1:p.(Ser396=)	NC_000023.10:g.114425192G>A	VUS	1 lab	1e71db778a
5:140802002 PCDHGB4 A>G	5	140802002	140802002	A	G	PCDHGB4	c.2397+32154A>G	NM_003736.4	NP_003727.1:p.?	NC_000005.9:g.140802002A>G	VUS	1 lab	1e728c9bfc
3:136196198 STAG1 T>G	3	136196198	136196198	T	G	STAG1	c.959A>C	NM_005862.3	NP_005853.2:p.(Lys320Thr)	NC_000003.11:g.136196198T>G	VUS	1 lab	1e73ff8239
1:84700941 PRKACB C>T	1	84700941	84700941	C	T	PRKACB	c.1150C>T	NM_182948.4	NP_891993.1:p.(Arg384Cys)	NC_000001.10:g.84700941C>T	VUS	1 lab	1e759900c5
5:159781883 C1QTNF2 C>T	5	159781883	159781883	C	T	C1QTNF2	c.136G>A	NM_031908.6	NP_114114.3:p.(Gly46Ser)	NC_000005.9:g.159781883C>T	VUS	1 lab	1e764ef555
6:5265203 FARS2 G>GTTT	6	5265203	5265218	G	GTTT	FARS2	c.-22+3323_-22+3325dup	NM_006567.5	NP_006558.1:p.?	NC_000006.11:g.5265216_5265218dup	VUS	1 lab	1e76e2747b
2:16082413 MYCN G>T	2	16082413	16082413	G	T	MYCN	c.227G>T	NM_005378.6	NP_005369.2:p.(Ser76Ile)	NC_000002.11:g.16082413G>T	(Likely) benign	1 lab	1e7719ba50
X:149905063 MTMR1 G>A	X	149905063	149905063	G	A	MTMR1	c.1081-4G>A	NM_001306144.3	NP_001293073.1:p.?	NC_000023.10:g.149905063G>A	(Likely) benign	1 lab	1e781b6880
12:49425850 KMT2D T>C	12	49425850	49425850	T	C	KMT2D	c.12638A>G	NM_003482.4	NP_003473.3:p.(His4213Arg)	NC_000012.11:g.49425850T>C	VUS	1 lab	1e788128f3
10:90524161 LIPN C>G	10	90524161	90524161	C	G	LIPN	c.227-6C>G	NM_001102469.2	NP_001095939.1:p.?	NC_000010.10:g.90524161C>G	(Likely) benign	1 lab	1e79c311da
5:7885808 MTRR C>T	5	7885808	7885808	C	T	MTRR	c.904-6C>T	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7885808C>T	(Likely) benign	1 lab	1e7bae59bc
2:131350595 CFC1 GGC>G	2	131350595	131350601	GGC	G	CFC1	c.525_526del	NM_032545.4	NP_115934.1:p.(Pro176GlnfsTer59)	NC_000002.11:g.131350600_131350601del	VUS	1 lab	1e7c224509
X:54957176 TRO G>A	X	54957176	54957176	G	A	TRO	c.4019G>A	NM_001039705.3	NP_001034794.1:p.(Gly1340Asp)	NC_000023.10:g.54957176G>A	(Likely) benign	1 lab	1e7ccb9c4a
22:24717517 SPECC1L C>T	22	24717517	24717517	C	T	SPECC1L	c.569C>T	NM_015330.6	NP_056145.5:p.(Thr190Met)	NC_000022.10:g.24717517C>T	(Likely) benign	1 lab	1b6aba38ca
20:60898720 LAMA5 C>T	20	60898720	60898720	C	T	LAMA5	c.5856G>A	NM_005560.6	NP_005551.3:p.(Ala1952=)	NC_000020.10:g.60898720C>T	(Likely) benign	1 lab	1e7e4d3fdb
1:203317232 FMOD C>A	1	203317232	203317232	C	A	FMOD	c.167G>T	NM_002023.5	NP_002014.2:p.(Gly56Val)	NC_000001.10:g.203317232C>A	(Likely) benign	1 lab	1e7ef8c366
X:30872700 TAB3 C>A	X	30872700	30872700	C	A	TAB3	c.1082G>T	NM_152787.5	NP_690000.3:p.(Gly361Val)	NC_000023.10:g.30872700C>A	(Likely) benign	1 lab	1e7f1fe3c6
13:32937662 BRCA2 A>T	13	32937662	32937662	A	T	BRCA2	c.8323A>T	NM_000059.4	NP_000050.3:p.(Met2775Leu)	NC_000013.10:g.32937662A>T	VUS	1 lab	1e8014f4a7
1:8420842 RERE A>G	1	8420842	8420842	A	G	RERE	c.2725T>C	NM_001042681.2	NP_001036146.1:p.(Ser909Pro)	NC_000001.10:g.8420842A>G	(Likely) benign	1 lab	1e822f1c03
21:47821627 PCNT G>A	21	47821627	47821627	G	A	PCNT	c.4954G>A	NM_006031.6	NP_006022.3:p.(Glu1652Lys)	NC_000021.8:g.47821627G>A	VUS	1 lab	1e836fdf1b
18:12329644 AFG3L2 G>T	18	12329644	12329644	G	T	AFG3L2	c.2314C>A	NM_006796.2	NP_006787.2:p.(Leu772Ile)	NC_000018.9:g.12329644G>T	VUS	1 lab	1b6e0079e8
6:87969240 ZNF292 C>T	6	87969240	87969240	C	T	ZNF292	c.5893C>T	NM_015021.3	NP_055836.1:p.(Arg1965Trp)	NC_000006.11:g.87969240C>T	VUS	1 lab	1e83b9dde1
6:26027465 H4C2 T>TA	6	26027465	26027466	T	TA	H4C2	c.15_16insT	NM_003544.3	NP_003535.1:p.(Lys6Ter)	NC_000006.11:g.26027465_26027466insA	(Likely) benign	1 lab	1e842f386f
1:236180568 NID1 C>T	1	236180568	236180568	C	T	NID1	c.2134G>A	NM_002508.3	NP_002499.2:p.(Asp712Asn)	NC_000001.10:g.236180568C>T	(Likely) benign	1 lab	1e8434f494
2:37873507 CDC42EP3 A>G	2	37873507	37873507	A	G	CDC42EP3	c.224T>C	NM_006449.5	NP_006440.2:p.(Leu75Pro)	NC_000002.11:g.37873507A>G	VUS	1 lab	1e8608115b
1:240256667 FMN2 A>G	1	240256667	240256667	A	G	FMN2	c.1258A>G	NM_020066.5	NP_064450.3:p.(Lys420Glu)	NC_000001.10:g.240256667A>G	VUS	1 lab	1e87c63dcb
12:110234478 TRPV4 G>A	12	110234478	110234478	G	A	TRPV4	c.1184C>T	NM_021625.5	NP_067638.3:p.(Thr395Met)	NC_000012.11:g.110234478G>A	(Likely) benign	1 lab	1e8a22c0c7
20:60926798 LAMA5 C>T	20	60926798	60926798	C	T	LAMA5	c.918G>A	NM_005560.6	NP_005551.3:p.(Ala306=)	NC_000020.10:g.60926798C>T	(Likely) benign	1 lab	1e8a99e4ba
18:31322936 ASXL3 T>C	18	31322936	31322936	T	C	ASXL3	c.3124T>C	NM_030632.3	NP_085135.1:p.(Ser1042Pro)	NC_000018.9:g.31322936T>C	(Likely) benign	1 lab	1e8b95a807
1:157668228 FCRL3 A>G	1	157668228	157668228	A	G	FCRL3	c.244T>C	NM_052939.4	NP_443171.2:p.(Cys82Arg)	NC_000001.10:g.157668228A>G	VUS	1 lab	1e8c0caa23
12:70928385 PTPRB GT>G	12	70928385	70928386	GT	G	PTPRB	c.6250del	NM_001109754.4	NP_001103224.1:p.(Thr2084ArgfsTer15)	NC_000012.11:g.70928386del	VUS	1 lab	1e8caf0461
20:58476871 SYCP2 T>C	20	58476871	58476871	T	C	SYCP2	c.1034-6A>G	NM_014258.4	NP_055073.2:p.?	NC_000020.10:g.58476871T>C	(Likely) benign	1 lab	1e8e3b6d15
20:45003198 ELMO2 C>A	20	45003198	45003198	C	A	ELMO2	c.1147G>T	NM_133171.5	NP_573403.1:p.(Val383Phe)	NC_000020.10:g.45003198C>A	(Likely) benign	1 lab	1e91065b8f
2:179640588 TTN G>C	2	179640588	179640588	G	C	TTN	c.6003C>G	NM_001267550.2	NP_001254479.2:p.(Phe2001Leu)	NC_000002.11:g.179640588G>C	VUS	1 lab	1e9223bc8f
4:85699799 WDFY3 T>G	4	85699799	85699799	T	G	WDFY3	c.4375A>C	NM_014991.6	NP_055806.2:p.(Met1459Leu)	NC_000004.11:g.85699799T>G	VUS	1 lab	1e93ecb2c0
17:67161107 ABCA10 G>C	17	67161107	67161107	G	C	ABCA10	c.3280C>G	NM_001377321.1	NP_001364250.1:p.(Gln1094Glu)	NC_000017.10:g.67161107G>C	VUS	1 lab	1e942c1970
5:151202344 GLRA1 T>G	5	151202344	151202344	T	G	GLRA1	c.1264A>C	NM_001146040.2	NP_001139512.1:p.(Lys422Gln)	NC_000005.9:g.151202344T>G	VUS	1 lab	1b6b152ce3
7:129945717 CPA4 G>A	7	129945717	129945717	G	A	CPA4	c.548G>A	NM_016352.4	NP_057436.2:p.(Arg183Gln)	NC_000007.13:g.129945717G>A	VUS	1 lab	1e97955c41
15:65369922 KBTBD13 G>C	15	65369922	65369922	G	C	KBTBD13	c.769G>C	NM_001101362.3	NP_001094832.1:p.(Asp257His)	NC_000015.9:g.65369922G>C	(Likely) benign	1 lab	1e98d6e02f
7:100282438 GIGYF1 C>A	7	100282438	100282438	C	A	GIGYF1	c.1370G>T	NM_001375765.1	NP_001362694.1:p.(Gly457Val)	NC_000007.13:g.100282438C>A	(Likely) benign	1 lab	1e99d59fae
19:50098868 PRR12 G>A	19	50098868	50098868	G	A	PRR12	c.1276G>A	NM_020719.3	NP_065770.1:p.(Ala426Thr)	NC_000019.9:g.50098868G>A	(Likely) benign	1 lab	1e9a05ca63
8:144996263 PLEC G>A	8	144996263	144996263	G	A	PLEC	c.7726C>T	NM_201384.3	NP_958786.1:p.(Leu2576=)	NC_000008.10:g.144996263G>A	(Likely) benign	1 lab	1e9a51b439
18:10696515 PIEZO2 T>G	18	10696515	10696515	T	G	PIEZO2	c.6850A>C	NM_001378183.1	NP_001365112.1:p.(Ile2284Leu)	NC_000018.9:g.10696515T>G	(Likely) benign	1 lab	1e9a6cd725
1:6309513 GPR153 G>A	1	6309513	6309513	G	A	GPR153	c.1715C>T	NM_207370.4	NP_997253.2:p.(Pro572Leu)	NC_000001.10:g.6309513G>A	(Likely) benign	1 lab	1e9ab738c4
10:37433982 ANKRD30A C>G	10	37433982	37433982	C	G	ANKRD30A	c.1453C>G	NM_052997.3	NP_443723.3:p.(Arg485Gly)	NC_000010.10:g.37433982C>G	VUS	1 lab	1e9b093aff
16:1575231 IFT140 C>T	16	1575231	1575231	C	T	IFT140	c.2864+1G>A	NM_014714.4	NP_055529.2:p.?	NC_000016.9:g.1575231C>T	(Likely) pathogenic	1 lab	1e9b7a67e9
16:88791456 PIEZO1 G>A	16	88791456	88791456	G	A	PIEZO1	c.4195C>T	NM_001142864.4	NP_001136336.2:p.(Arg1399Trp)	NC_000016.9:g.88791456G>A	(Likely) benign	1 lab	1e9c5218c3
18:52969651 TCF4 G>A	18	52969651	52969651	G	A	TCF4	c.550-22764C>T	NM_001083962.2	NP_001077431.1:p.?	NC_000018.9:g.52969651G>A	VUS	1 lab	1e9d19d8bc
19:13506089 CACNA1A A>AC	19	13506089	13506090	A	AC	CACNA1A	c.540-23497_540-23496insG	NM_001127222.2	NP_001120694.1:p.?	NC_000019.9:g.13506089_13506090insC	(Likely) benign	1 lab	1e9d8a5f1b
4:1808391 FGFR3 G>A	4	1808391	1808391	G	A	FGFR3	c.2149G>A	NM_000142.5	NP_000133.1:p.(Ala717Thr)	NC_000004.11:g.1808391G>A	(Likely) benign	1 lab	1e9e0326ab
17:73658614 RECQL5 T>C	17	73658614	73658614	T	C	RECQL5	c.716A>G	NM_004259.7	NP_004250.4:p.(Tyr239Cys)	NC_000017.10:g.73658614T>C	VUS	1 lab	1e9e3f41bc
10:35322199 CUL2 C>T	10	35322199	35322199	C	T	CUL2	c.1005G>A	NM_003591.4	NP_003582.2:p.(Met335Ile)	NC_000010.10:g.35322199C>T	(Likely) benign	1 lab	1e9f76e6d4
11:640065 DRD4 TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC>T	11	640065	640137	TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T	DRD4	c.841_888del	NM_000797.4	NP_000788.2:p.(Ala281_Pro296del)	NC_000011.9:g.640090_640137del	VUS	1 lab	1ea0dd9961
3:112736411 RMP64 C>T	3	112736411	112736411	C	T	RMP64	c.145G>A	NM_015412.4	NP_056227.2:p.(Val49Ile)	NC_000003.11:g.112736411C>T	(Likely) benign	1 lab	1ea1683a82
5:132270084 AFF4 G>C	5	132270084	132270084	G	C	AFF4	c.673C>G	NM_014423.4	NP_055238.1:p.(Arg225Gly)	NC_000005.9:g.132270084G>C	(Likely) benign	1 lab	1ea32b3111
19:35250553 ZNF599 G>C	19	35250553	35250553	G	C	ZNF599	c.1153C>G	NM_001007248.3	NP_001007249.1:p.(His385Asp)	NC_000019.9:g.35250553G>C	VUS	1 lab	1ea4b50ee1
3:159998461 IFT80 T>A	3	159998461	159998461	T	A	IFT80	c.1658A>T	NM_020800.3	NP_065851.1:p.(Asp553Val)	NC_000003.11:g.159998461T>A	VUS	1 lab	1ea8138a05
16:88780617 CTU2 C>T	16	88780617	88780617	C	T	CTU2	c.1079C>T	NM_001012759.3	NP_001012777.1:p.(Thr360Ile)	NC_000016.9:g.88780617C>T	VUS	1 lab	1ea8ec0ea8
16:49670775 ZNF423 G>A	16	49670775	49670775	G	A	ZNF423	c.2312C>T	NM_001379286.1	NP_001366215.1:p.(Ala771Val)	NC_000016.9:g.49670775G>A	VUS	1 lab	1ea9c46a72
1:3740068 CEP104 C>T	1	3740068	3740068	C	T	CEP104	c.2423G>A	NM_014704.4	NP_055519.1:p.(Gly808Glu)	NC_000001.10:g.3740068C>T	(Likely) benign	1 lab	1eaa17ae37
7:42004596 GLI3 C>T	7	42004596	42004596	C	T	GLI3	c.4075G>A	NM_000168.6	NP_000159.3:p.(Gly1359Arg)	NC_000007.13:g.42004596C>T	VUS	1 lab	1eac0abcf4
6:152809599 SYNE1 T>C	6	152809599	152809599	T	C	SYNE1	c.979A>G	NM_182961.4	NP_892006.3:p.(Ile327Val)	NC_000006.11:g.152809599T>C	VUS	1 lab	1eac5662ad
22:29730345 AP1B1 G>A	22	29730345	29730345	G	A	AP1B1	c.2218C>T	NM_001127.4	NP_001118.3:p.(Arg740Cys)	NC_000022.10:g.29730345G>A	VUS	1 lab	1eaddc3498
2:232325396 NCL TTCC>T	2	232325396	232325407	TTCC	T	NCL	c.792_794del	NM_005381.3	NP_005372.2:p.(Glu271del)	NC_000002.11:g.232325405_232325407del	VUS	1 lab	1eae2375ed
2:113513664 CKAP2L C>G	2	113513664	113513664	C	G	CKAP2L	c.1284G>C	NM_152515.5	NP_689728.3:p.(Gln428His)	NC_000002.11:g.113513664C>G	VUS	1 lab	1eaf49fb61
2:233201287 DIS3L2 GAGA>G	2	233201287	233201292	GAGA	G	DIS3L2	c.2608_2610del	NM_152383.5	NP_689596.4:p.(Lys870del)	NC_000002.11:g.233201290_233201292del	VUS	1 lab	1eb0575c7e
10:73594191 PSAP T>A	10	73594191	73594191	T	A	PSAP	c.112A>T	NM_001042465.3	NP_001035930.1:p.(Thr38Ser)	NC_000010.10:g.73594191T>A	VUS	1 lab	1b6f63e91e
4:1807289 FGFR3 A>T	4	1807289	1807289	A	T	FGFR3	c.1538A>T	NM_000142.5	NP_000133.1:p.(Asp513Val)	NC_000004.11:g.1807289A>T	VUS	1 lab	1ecd68c988
3:189590760 TP63 A>G	3	189590760	189590760	A	G	TP63	c.1325A>G	NM_003722.5	NP_003713.3:p.(Gln442Arg)	NC_000003.11:g.189590760A>G	(Likely) benign	1 lab	1eb29d2b14
10:104679752 CNNM2 C>T	10	104679752	104679752	C	T	CNNM2	c.1515C>T	NM_017649.5	NP_060119.3:p.(Pro505=)	NC_000010.10:g.104679752C>T	(Likely) benign	1 lab	1b79f0d62c
14:75506605 MLH3 A>G	14	75506605	75506605	A	G	MLH3	c.3570+9T>C	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75506605A>G	(Likely) benign	1 lab	1eb4aafad8
9:134384308 POMT1 C>T	9	134384308	134384308	C	T	POMT1	c.438C>T	NM_001077365.2	NP_001070833.1:p.(Leu146=)	NC_000009.11:g.134384308C>T	(Likely) benign	1 lab	1eb4e0daba
6:66094285 EYS T>A	6	66094285	66094285	T	A	EYS	c.1293A>T	NM_001142800.2	NP_001136272.1:p.(Arg431Ser)	NC_000006.11:g.66094285T>A	(Likely) benign	1 lab	1eb7c0579a
7:107204416 DUS4L G>GGGCCCC	7	107204416	107204417	G	GGGCCCC	DUS4L	c.-349_-348insGGCCCC	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204416_107204417insGGCCCC	(Likely) benign	1 lab	1eb8c33239
1:8418909 RERE C>T	1	8418909	8418909	C	T	RERE	c.3686G>A	NM_001042681.2	NP_001036146.1:p.(Arg1229Gln)	NC_000001.10:g.8418909C>T	(Likely) benign	1 lab	1eb9158dcc
7:2578025 BRAT1 A>T	7	2578025	2578025	A	T	BRAT1	c.2144T>A	NM_152743.4	NP_689956.2:p.(Val715Glu)	NC_000007.13:g.2578025A>T	(Likely) pathogenic	1 lab	1eba96235a
1:75708628 SLC44A5 G>C	1	75708628	75708628	G	C	SLC44A5	c.414C>G	NM_001130058.2	NP_001123530.1:p.(Asp138Glu)	NC_000001.10:g.75708628G>C	(Likely) benign	1 lab	1ebab65147
4:996663 IDUA G>A	4	996663	996663	G	A	IDUA	c.1333G>A	NM_000203.5	NP_000194.2:p.(Asp445Asn)	NC_000004.11:g.996663G>A	VUS	1 lab	1ebb59f07a
10:73767582 CHST3 C>G	10	73767582	73767582	C	G	CHST3	c.793C>G	NM_004273.5	NP_004264.2:p.(Arg265Gly)	NC_000010.10:g.73767582C>G	VUS	1 lab	1ebd4d0201
17:78021139 CCDC40 G>A	17	78021139	78021139	G	A	CCDC40	c.614G>A	NM_017950.4	NP_060420.2:p.(Arg205Gln)	NC_000017.10:g.78021139G>A	(Likely) benign	1 lab	1ebdfbed01
5:176314060 HK3 C>G	5	176314060	176314060	C	G	HK3	c.1800G>C	NM_002115.3	NP_002106.2:p.(Gln600His)	NC_000005.9:g.176314060C>G	(Likely) benign	1 lab	1ebdffabd4
17:56296842 MKS1 G>C	17	56296842	56296842	G	C	MKS1				NC_000017.10:g.56296842G>C	VUS	1 lab	20cd2ac77b
5:176048219 SNCB G>T	5	176048219	176048219	G	T	SNCB	c.368C>A	NM_003085.5	NP_003076.1:p.(Pro123His)	NC_000005.9:g.176048219G>T	VUS	1 lab	1ec1793277
16:30768958 PHKG2 G>A	16	30768958	30768958	G	A	PHKG2	c.*540G>A	NM_000294.3	NP_000285.1:p.?	NC_000016.9:g.30768958G>A	VUS	1 lab	1ec210b16f
7:766742 PRKAR1B G>C	7	766742	766742	G	C	PRKAR1B	c.-23+105C>G	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.766742G>C	VUS	1 lab	1ec27ff17d
2:230652362 TRIP12 AG>A	2	230652362	230652364	AG	A	TRIP12	c.4853del	NM_001348323.3	NP_001335252.1:p.(Pro1618LeufsTer11)	NC_000002.11:g.230652364del	VUS	1 lab	1ec364a176
X:24382435 SUPT20HL1 CCTGCTCTAGCTGCTGCTG>C	X	24382435	24382459	CCTGCTCTAGCTGCTGCTG	C	SUPT20HL1	c.1565_1582del	NM_001136234.3	NP_001129706.3:p.(Leu522_Ala527del)	NC_000023.10:g.24382442_24382459del	(Likely) benign	1 lab	1ec373f6b6
5:14485359 TRIO A>T	5	14485359	14485359	A	T	TRIO	c.6835+4A>T	NM_007118.4	NP_009049.2:p.?	NC_000005.9:g.14485359A>T	VUS	1 lab	1ec48f7932
1:228480317 OBSCN C>T	1	228480317	228480317	C	T	OBSCN	c.11984C>T	NM_001386125.1	NP_001373054.1:p.(Pro3995Leu)	NC_000001.10:g.228480317C>T	(Likely) benign	1 lab	1ec49b055f
12:57114061 NACA G>C	12	57114061	57114061	G	C	NACA	c.1253C>G	NM_001365896.1	NP_001352825.1:p.(Ser418Cys)	NC_000012.11:g.57114061G>C	VUS	1 lab	1ec6d6ae34
14:102496601 DYNC1H1 G>A	14	102496601	102496601	G	A	DYNC1H1	c.9865G>A	NM_001376.5	NP_001367.2:p.(Val3289Ile)	NC_000014.8:g.102496601G>A	VUS	1 lab	1ec7990b7b
7:104751245 KMT2E C>T	7	104751245	104751245	C	T	KMT2E	c.3998C>T	NM_182931.3	NP_891847.1:p.(Thr1333Ile)	NC_000007.13:g.104751245C>T	(Likely) benign	1 lab	1ec833b321
2:109371488 RANBP2 A>G	2	109371488	109371488	A	G	RANBP2	c.2330A>G	NM_006267.4	NP_006258.3:p.(His777Arg)	NC_000002.11:g.109371488A>G	(Likely) benign	1 lab	1b804f6110
7:37955965 SFRP4 C>T	7	37955965	37955965	C	T	SFRP4	c.175G>A	NM_003014.4	NP_003005.2:p.(Glu59Lys)	NC_000007.13:g.37955965C>T	VUS	1 lab	1ecb0d66fb
16:30732776 SRCAP G>A	16	30732776	30732776	G	A	SRCAP	c.3520G>A	NM_006662.3	NP_006653.2:p.(Asp1174Asn)	NC_000016.9:g.30732776G>A	VUS	1 lab	1eccf94d3b
11:803468 PIDD1 T>A	11	803468	803468	T	A	PIDD1	c.415A>T	NM_145886.4	NP_665893.2:p.(Thr139Ser)	NC_000011.9:g.803468T>A	VUS	1 lab	1ecd1fe7da
10:105796800 COL17A1 C>G	10	105796800	105796800	C	G	COL17A1	c.3277+3G>C	NM_000494.4	NP_000485.3:p.?	NC_000010.10:g.105796800C>G	VUS	1 lab	1ece211612
20:62044929 KCNQ2 A>T	20	62044929	62044929	A	T	KCNQ2	c.1637T>A	NM_172107.4	NP_742105.1:p.(Met546Lys)	NC_000020.10:g.62044929A>T	VUS	1 lab	1ece340c33
2:1442551 TPO ATTTT>A	2	1442551	1442568	ATTTT	A	TPO	c.482+2409_482+2412del	NM_000547.6	NP_000538.3:p.?	NC_000002.11:g.1442565_1442568del	(Likely) benign	1 lab	1b6f70c32e
12:50513968 COX14 G>A	12	50513968	50513968	G	A	COX14	c.142G>A	NM_032901.4	NP_116290.1:p.(Ala48Thr)	NC_000012.11:g.50513968G>A	VUS	1 lab	1ed2710552
6:43498523 XPO5 T>C	6	43498523	43498523	T	C	XPO5	c.2580A>G	NM_020750.3	NP_065801.1:p.(Gln860=)	NC_000006.11:g.43498523T>C	(Likely) benign	1 lab	1ed69292ec
17:6526292 KIAA0753 G>C	17	6526292	6526292	G	C	KIAA0753	c.1014C>G	NM_014804.3	NP_055619.2:p.(Ser338Arg)	NC_000017.10:g.6526292G>C	VUS	1 lab	1ed77dccc3
12:57926560 DCTN2 C>T	12	57926560	57926560	C	T	DCTN2	c.808G>A	NM_001261413.2	NP_001248342.1:p.(Ala270Thr)	NC_000012.11:g.57926560C>T	(Likely) benign	1 lab	1ed78955e1
6:152690713 SYNE1 C>T	6	152690713	152690713	C	T	SYNE1	c.9544G>A	NM_182961.4	NP_892006.3:p.(Ala3182Thr)	NC_000006.11:g.152690713C>T	VUS	1 lab	1ed9497561
5:140890603 PCDHGC3 G>A	5	140890603	140890603	G	A	PCDHGC3	c.2668G>A	NM_002588.4	NP_002579.2:p.(Val890Met)	NC_000005.9:g.140890603G>A	VUS	1 lab	1ede25d4e5
4:79373499 FRAS1 G>A	4	79373499	79373499	G	A	FRAS1	c.6754G>A	NM_025074.7	NP_079350.5:p.(Ala2252Thr)	NC_000004.11:g.79373499G>A	(Likely) benign	1 lab	1ede2b8e7d
2:152711897 CACNB4 G>T	2	152711897	152711897	G	T	CACNB4	c.869-8C>A	NM_000726.5	NP_000717.2:p.?	NC_000002.11:g.152711897G>T	(Likely) benign	1 lab	1ef120394f
8:145001853 PLEC C>G	8	145001853	145001853	C	G	PLEC	c.3892G>C	NM_201380.4	NP_958782.1:p.(Glu1298Gln)	NC_000008.10:g.145001853C>G	(Likely) benign	1 lab	1b770f0175
9:114173305 ECPAS G>A	9	114173305	114173305	G	A	ECPAS	c.2332C>T	NM_001364929.1	NP_001351858.1:p.(Leu778Phe)	NC_000009.11:g.114173305G>A	(Likely) benign	1 lab	1ee3cda5d4
2:201943669 NDUFB3 T>C	2	201943669	201943669	T	C	NDUFB3	c.64T>C	NM_002491.3	NP_002482.1:p.(Trp22Arg)	NC_000002.11:g.201943669T>C	(Likely) pathogenic	1 lab	1ee3e7fd6a
1:152286804 FLG G>T	1	152286804	152286804	G	T	FLG	c.558C>A	NM_002016.2	NP_002007.1:p.(Asn186Lys)	NC_000001.10:g.152286804G>T	(Likely) benign	1 lab	1ee44f67f2
2:179645983 TTN C>G	2	179645983	179645983	C	G	TTN	c.3388G>C	NM_001267550.2	NP_001254479.2:p.(Val1130Leu)	NC_000002.11:g.179645983C>G	VUS	1 lab	1ee45304fb
X:47747532 ZNF81 C>T	X	47747532	47747532	C	T	ZNF81	c.181+8C>T	NM_007137.5	NP_009068.2:p.?	NC_000023.10:g.47747532C>T	(Likely) benign	1 lab	1ee66f677c
2:179634582 TTN T>C	2	179634582	179634582	T	C	TTN	c.8726A>G	NM_001267550.2	NP_001254479.2:p.(Asn2909Ser)	NC_000002.11:g.179634582T>C	(Likely) benign	1 lab	1ee8a0b13c
13:32914788 BRCA2 G>C	13	32914788	32914788	G	C	BRCA2	c.6296G>C	NM_000059.4	NP_000050.3:p.(Arg2099Thr)	NC_000013.10:g.32914788G>C	VUS	1 lab	1eea511029
6:70942319 COL9A1 G>T	6	70942319	70942319	G	T	COL9A1	c.2470C>A	NM_001851.6	NP_001842.3:p.(Pro824Thr)	NC_000006.11:g.70942319G>T	(Likely) benign	1 lab	1eebd81947
14:21834677 SUPT16H A>G	14	21834677	21834677	A	G	SUPT16H	c.967T>C	NM_007192.4	NP_009123.1:p.(Cys323Arg)	NC_000014.8:g.21834677A>G	(Likely) benign	1 lab	1eef166d4f
15:38632035 SPRED1 G>T	15	38632035	38632035	G	T	SPRED1	c.521G>T	NM_152594.3	NP_689807.1:p.(Arg174Ile)	NC_000015.9:g.38632035G>T	VUS	1 lab	1eefaa0103
X:50136265 DGKK T>C	X	50136265	50136265	T	C	DGKK	c.1480A>G	NM_001013742.4	NP_001013764.1:p.(Ile494Val)	NC_000023.10:g.50136265T>C	VUS	1 lab	1ef01cc394
X:132160660 USP26 C>A	X	132160660	132160660	C	A	USP26	c.1589G>T	NM_031907.3	NP_114113.1:p.(Cys530Phe)	NC_000023.10:g.132160660C>A	(Likely) benign	1 lab	1ef0d07f72
1:27058078 ARID1A C>A	1	27058078	27058078	C	A	ARID1A	c.1786C>A	NM_006015.6	NP_006006.3:p.(Arg596Ser)	NC_000001.10:g.27058078C>A	VUS	1 lab	1ef2eca12c
2:54885085 SPTBN1 G>A	2	54885085	54885085	G	A	SPTBN1	c.6145G>A	NM_003128.3	NP_003119.2:p.(Val2049Met)	NC_000002.11:g.54885085G>A	(Likely) benign	1 lab	1ef354a268
11:862715 TSPAN4 A>G	11	862715	862715	A	G	TSPAN4	c.229A>G	NM_003271.5	NP_003262.1:p.(Lys77Glu)	NC_000011.9:g.862715A>G	VUS	1 lab	1ef40fde04
19:1468408 APC2 C>A	19	1468408	1468408	C	A	APC2	c.5108C>A	NM_005883.3	NP_005874.1:p.(Ala1703Glu)	NC_000019.9:g.1468408C>A	VUS	1 lab	1ef541d189
19:1468380 APC2 A>T	19	1468380	1468380	A	T	APC2	c.5080A>T	NM_005883.3	NP_005874.1:p.(Asn1694Tyr)	NC_000019.9:g.1468380A>T	VUS	1 lab	1ef55fd046
6:17665484 NUP153 C>G	6	17665484	17665484	C	G	NUP153	c.1201G>C	NM_005124.4	NP_005115.2:p.(Asp401His)	NC_000006.11:g.17665484C>G	VUS	1 lab	1ef7806a48
2:171811157 GORASP2 T>A	2	171811157	171811157	T	A	GORASP2	c.567-3T>A	NM_015530.5	NP_056345.3:p.?	NC_000002.11:g.171811157T>A	(Likely) benign	1 lab	1efc653f3c
12:52962036 KRT74 CTCGCGCAGCA>C	12	52962036	52962048	CTCGCGCAGCA	C	KRT74	c.1262_1271del	NM_175053.4	NP_778223.2:p.(Met421SerfsTer6)	NC_000012.11:g.52962039_52962048del	VUS	1 lab	1efc8e5d9b
2:215646240 BARD1 G>A	2	215646240	215646240	G	A	BARD1	c.365-7C>T	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215646240G>A	(Likely) benign	1 lab	1efc8e9509
7:102574655 LRRC17 A>G	7	102574655	102574655	A	G	LRRC17	c.295A>G	NM_001031692.3	NP_001026862.1:p.(Asn99Asp)	NC_000007.13:g.102574655A>G	(Likely) benign	1 lab	1efd398655
4:6863866 KIAA0232 A>G	4	6863866	6863866	A	G	KIAA0232	c.1757A>G	NM_014743.3	NP_055558.2:p.(Asn586Ser)	NC_000004.11:g.6863866A>G	VUS	1 lab	1efda66346
5:195040 LRRC14B G>A	5	195040	195040	G	A	LRRC14B	c.1117G>A	NM_001080478.3	NP_001073947.1:p.(Val373Ile)	NC_000005.9:g.195040G>A	VUS	1 lab	1f24352de3
17:72436708 GPRC5C T>C	17	72436708	72436708	T	C	GPRC5C	c.793T>C	NM_022036.4	NP_071319.3:p.(Tyr265His)	NC_000017.10:g.72436708T>C	(Likely) benign	1 lab	1efef36b6a
19:11150198 SMARCA4 G>A	19	11150198	11150198	G	A	SMARCA4	c.4171-1785G>A	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11150198G>A	VUS	1 lab	1eff996d60
9:35801991 NPR2 C>G	9	35801991	35801991	C	G	NPR2	c.1626C>G	NM_003995.4	NP_003986.2:p.(His542Gln)	NC_000009.11:g.35801991C>G	(Likely) benign	1 lab	1effe24194
12:49426595 KMT2D G>A	12	49426595	49426595	G	A	KMT2D	c.11893C>T	NM_003482.4	NP_003473.3:p.(Gln3965Ter)	NC_000012.11:g.49426595G>A	VUS	1 lab	1f0084e996
4:1806236 FGFR3 C>T	4	1806236	1806236	C	T	FGFR3	c.1255C>T	NM_000142.5	NP_000133.1:p.(Leu419Phe)	NC_000004.11:g.1806236C>T	VUS	1 lab	1f00c6685b
2:48941140 LHCGR G>A	2	48941140	48941140	G	A	LHCGR	c.590C>T	NM_000233.4	NP_000224.2:p.(Thr197Met)	NC_000002.11:g.48941140G>A	VUS	1 lab	1f012d0615
9:139360719 SEC16A G>T	9	139360719	139360719	G	T	SEC16A	c.4125C>A	NM_014866.2	NP_055681.1:p.(His1375Gln)	NC_000009.11:g.139360719G>T	(Likely) benign	1 lab	1f0176351c
11:20676316 SLC6A5 C>T	11	20676316	20676316	C	T	SLC6A5	c.2296C>T	NM_004211.5	NP_004202.4:p.(Arg766Cys)	NC_000011.9:g.20676316C>T	VUS	1 lab	1f039aa815
17:73282773 SLC25A19 A>C	17	73282773	73282773	A	C	SLC25A19	c.73T>G	NM_001126121.2	NP_001119593.1:p.(Ser25Ala)	NC_000017.10:g.73282773A>C	VUS	1 lab	1f03d7636f
6:89322504 RNGTT A>C	6	89322504	89322504	A	C	RNGTT	c.1728T>G	NM_003800.5	NP_003791.3:p.(His576Gln)	NC_000006.11:g.89322504A>C	(Likely) benign	1 lab	1f05e2a5ea
2:145147171 ZEB2 C>A	2	145147171	145147171	C	A	ZEB2	c.3492G>T	NM_014795.4	NP_055610.1:p.(Glu1164Asp)	NC_000002.11:g.145147171C>A	VUS	1 lab	1f05e6545e
8:144899498 PUF60 C>G	8	144899498	144899498	C	G	PUF60	c.1144+3G>C	NM_078480.3	NP_510965.1:p.?	NC_000008.10:g.144899498C>G	(Likely) benign	1 lab	1f06fdcc59
14:55326392 GCH1 C>A	14	55326392	55326392	C	A	GCH1	c.509+7G>T	NM_000161.3	NP_000152.1:p.?	NC_000014.8:g.55326392C>A	(Likely) benign	1 lab	1f076af66f
X:11682620 ARHGAP6 T>C	X	11682620	11682620	T	C	ARHGAP6	c.329A>G	NM_013427.3	NP_038286.2:p.(Gln110Arg)	NC_000023.10:g.11682620T>C	VUS	1 lab	1f0a1951d6
2:241808313 AGXT C>A	2	241808313	241808313	C	A	AGXT	c.31C>A	NM_000030.3	NP_000021.1:p.(Pro11Thr)	NC_000002.11:g.241808313C>A	VUS	1 lab	1f0ae1fa2b
1:154543798 CHRNB2 C>T	1	154543798	154543798	C	T	CHRNB2	c.499C>T	NM_000748.3	NP_000739.1:p.(Gln167Ter)	NC_000001.10:g.154543798C>T	VUS	1 lab	1b7ca225e8
1:144852450 PDE4DIP G>A	1	144852450	144852450	G	A	PDE4DIP	c.*8C>T	NM_001395426.1	NP_001382355.1:p.?	NC_000001.10:g.144852450G>A	(Likely) benign	1 lab	1f0c7d79cf
15:89869958 POLG A>G	15	89869958	89869958	A	G	POLG	c.1597T>C	NM_002693.3	NP_002684.1:p.(Cys533Arg)	NC_000015.9:g.89869958A>G	(Likely) benign	1 lab	1f0cdfe010
18:10691241 PIEZO2 T>C	18	10691241	10691241	T	C	PIEZO2	c.7331A>G	NM_001378183.1	NP_001365112.1:p.(Asn2444Ser)	NC_000018.9:g.10691241T>C	VUS	1 lab	1f0e68b293
17:79172048 CEP131 G>A	17	79172048	79172048	G	A	CEP131	c.1337C>T	NM_014984.4	NP_055799.2:p.(Pro446Leu)	NC_000017.10:g.79172048G>A	VUS	1 lab	1f0fcc495a
8:133186553 KCNQ3 G>A	8	133186553	133186553	G	A	KCNQ3	c.977C>T	NM_004519.4	NP_004510.1:p.(Thr326Met)	NC_000008.10:g.133186553G>A	(Likely) benign	1 lab	1f11184f42
3:38949514 SCN11A T>C	3	38949514	38949514	T	C	SCN11A	c.1399A>G	NM_001349253.2	NP_001336182.1:p.(Lys467Glu)	NC_000003.11:g.38949514T>C	VUS	1 lab	1f120d71f4
X:44913196 KDM6A G>A	X	44913196	44913196	G	A	KDM6A	c.871G>A	NM_001291415.2	NP_001278344.1:p.(Gly291Arg)	NC_000023.10:g.44913196G>A	(Likely) pathogenic	1 lab	1f12a43fd5
X:14929354 MOSPD2 T>C	X	14929354	14929354	T	C	MOSPD2	c.703-5T>C	NM_152581.4	NP_689794.1:p.?	NC_000023.10:g.14929354T>C	(Likely) benign	1 lab	1f1539c22f
1:235937153 LYST TC>T	1	235937153	235937155	TC	T	LYST	c.5772del	NM_000081.4	NP_000072.2:p.(Trp1924Ter)	NC_000001.10:g.235937155del	(Likely) pathogenic	1 lab	1f15640c38
14:92537354 ATXN3 C>CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	14	92537354	92537355	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ATXN3	c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	NM_004993.6	NP_004984.2:p.(Gly306GlnfsTer45)	NC_000014.8:g.92537354_92537355insTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	VUS	1 lab	1f17007f21
19:9406425 ZNF699 G>A	19	9406425	9406425	G	A	ZNF699	c.1655C>T	NM_198535.3	NP_940937.1:p.(Thr552Met)	NC_000019.9:g.9406425G>A	VUS	1 lab	1f4dd204d6
14:21862069 CHD8 A>G	14	21862069	21862069	A	G	CHD8	c.5885T>C	NM_001170629.2	NP_001164100.1:p.(Met1962Thr)	NC_000014.8:g.21862069A>G	VUS	1 lab	1f1721f863
17:15973521 NCOR1 T>C	17	15973521	15973521	T	C	NCOR1	c.4471A>G	NM_006311.4	NP_006302.2:p.(Thr1491Ala)	NC_000017.10:g.15973521T>C	(Likely) benign	1 lab	1f190708c3
3:139280160 NMNAT3 C>G	3	139280160	139280160	C	G	NMNAT3	c.451G>C	NM_001401600.1	NP_001388529.1:p.(Ala151Pro)	NC_000003.11:g.139280160C>G	(Likely) benign	1 lab	1f19e5014b
12:56087870 ITGA7 C>A	12	56087870	56087870	C	A	ITGA7	c.2470G>T	NM_002206.3	NP_002197.2:p.(Val824Leu)	NC_000012.11:g.56087870C>A	VUS	1 lab	1f19f0db3d
1:145281633 NOTCH2NLA C>A	1	145281633	145281633	C	A	NOTCH2NLA	c.563C>A	NM_203458.6	NP_982283.2:p.(Pro188His)	NC_000001.10:g.145281633C>A	(Likely) benign	1 lab	1f1a0ff11d
6:36262185 PNPLA1 C>T	6	36262185	36262185	C	T	PNPLA1	c.714+9C>T	NM_001374623.1	NP_001361552.1:p.?	NC_000006.11:g.36262185C>T	VUS	1 lab	1f1a72f265
19:7126658 INSR G>C	19	7126658	7126658	G	C	INSR	c.2950C>G	NM_000208.4	NP_000199.2:p.(Pro984Ala)	NC_000019.9:g.7126658G>C	VUS	1 lab	1f1b554375
4:3487374 DOK7 C>T	4	3487374	3487374	C	T	DOK7	c.641C>T	NM_173660.5	NP_775931.3:p.(Pro214Leu)	NC_000004.11:g.3487374C>T	VUS	1 lab	2000ce2acc
17:48646520 CACNA1G C>T	17	48646520	48646520	C	T	CACNA1G	c.355-6C>T	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646520C>T	(Likely) benign	1 lab	1f1b572b62
15:33840344 RYR3 G>A	15	33840344	33840344	G	A	RYR3	c.754G>A	NM_001036.6	NP_001027.3:p.(Glu252Lys)	NC_000015.9:g.33840344G>A	VUS	1 lab	1f1e021616
12:116399185 MED13L G>GT	12	116399185	116399186	G	GT	MED13L	c.6518dup	NM_015335.5	NP_056150.1:p.(Tyr2173Ter)	NC_000012.11:g.116399186dup	VUS	1 lab	1f204a155e
16:72991763 ZFHX3 C>G	16	72991763	72991763	C	G	ZFHX3	c.2282G>C	NM_006885.4	NP_008816.3:p.(Gly761Ala)	NC_000016.9:g.72991763C>G	(Likely) benign	1 lab	1f20501f74
8:145139434 GPAA1 G>A	8	145139434	145139434	G	A	GPAA1	c.932G>A	NM_003801.4	NP_003792.1:p.(Arg311His)	NC_000008.10:g.145139434G>A	VUS	1 lab	1f21fd0f37
6:74207487 MTO1 A>G	6	74207487	74207487	A	G	MTO1	c.1785A>G	NM_012123.4	NP_036255.2:p.(Gln595=)	NC_000006.11:g.74207487A>G	(Likely) benign	1 lab	1f22ae6957
11:77727704 KCTD14 T>G	11	77727704	77727704	T	G	KCTD14	c.703A>C	NM_023930.4	NP_076419.2:p.(Thr235Pro)	NC_000011.9:g.77727704T>G	(Likely) benign	1 lab	1f258a02eb
14:103986317 CKB A>C	14	103986317	103986317	A	C	CKB	c.1030T>G	NM_001823.5	NP_001814.2:p.(Phe344Val)	NC_000014.8:g.103986317A>C	VUS	1 lab	1f258e664f
17:79632499 OXLD1 G>C	17	79632499	79632499	G	C	OXLD1	c.176C>G	NM_001039842.3	NP_001034931.1:p.(Thr59Arg)	NC_000017.10:g.79632499G>C	(Likely) benign	1 lab	1f2671c0ea
5:82835320 VCAN T>A	5	82835320	82835320	T	A	VCAN	c.6498T>A	NM_004385.5	NP_004376.2:p.(Asp2166Glu)	NC_000005.9:g.82835320T>A	VUS	1 lab	1f2749e0d6
X:10535365 MID1 G>A	X	10535365	10535365	G	A	MID1	c.223C>T	NM_000381.4	NP_000372.1:p.(Arg75Cys)	NC_000023.10:g.10535365G>A	VUS	1 lab	1f27d887bd
16:72822563 ZFHX3 TTGC>T	16	72822563	72822586	TTGC	T	ZFHX3	c.9609_9611del	NM_006885.4	NP_008816.3:p.(Gln3204del)	NC_000016.9:g.72822584_72822586del	VUS	1 lab	1f2cdc483e
11:118372572 KMT2A G>C	11	118372572	118372572	G	C	KMT2A	c.6505G>C	NM_001197104.2	NP_001184033.1:p.(Gly2169Arg)	NC_000011.9:g.118372572G>C	VUS	1 lab	1f2ce9b52c
7:40132678 CDK13 C>T	7	40132678	40132678	C	T	CDK13	c.3530C>T	NM_003718.5	NP_003709.3:p.(Ala1177Val)	NC_000007.13:g.40132678C>T	(Likely) benign	1 lab	1f2ff02e5f
1:200574485 KIF14 T>C	1	200574485	200574485	T	C	KIF14	c.1672A>G	NM_014875.3	NP_055690.1:p.(Thr558Ala)	NC_000001.10:g.200574485T>C	VUS	1 lab	1f3139f9bf
9:35558215 RUSC2 G>A	9	35558215	35558215	G	A	RUSC2	c.3082G>A	NM_014806.5	NP_055621.2:p.(Val1028Met)	NC_000009.11:g.35558215G>A	VUS	1 lab	1f350550dc
16:16297424 ABCC6 T>C	16	16297424	16297424	T	C	ABCC6	c.841A>G	NM_001171.6	NP_001162.5:p.(Lys281Glu)	NC_000016.9:g.16297424T>C	(Likely) benign	1 lab	1f3565165f
22:24807640 SPECC1L A>G	22	24807640	24807640	A	G	SPECC1L	c.3172A>G	NM_015330.6	NP_056145.5:p.(Ile1058Val)	NC_000022.10:g.24807640A>G	VUS	1 lab	1f36552ff2
15:25940169 ATP10A G>A	15	25940169	25940169	G	A	ATP10A	c.2885C>T	NM_024490.4	NP_077816.1:p.(Thr962Met)	NC_000015.9:g.25940169G>A	(Likely) benign	1 lab	1f36d013dd
1:226125206 LEFTY2 T>G	1	226125206	226125206	T	G	LEFTY2	c.1036A>C	NM_003240.5	NP_003231.2:p.(Met346Leu)	NC_000001.10:g.226125206T>G	VUS	1 lab	1f38feb2f0
11:108164131 ATM A>G	11	108164131	108164131	A	G	ATM	c.4703A>G	NM_000051.4	NP_000042.3:p.(His1568Arg)	NC_000011.9:g.108164131A>G	VUS	1 lab	1f39172339
9:131873918 PTPA C>T	9	131873918	131873918	C	T	PTPA	c.31+8C>T	NM_178000.3	NP_821067.1:p.?	NC_000009.11:g.131873918C>T	(Likely) benign	1 lab	1f39bfc097
15:56388802 RFX7 T>G	15	56388802	56388802	T	G	RFX7	c.1124A>C	NM_022841.7	NP_073752.6:p.(Gln375Pro)	NC_000015.9:g.56388802T>G	(Likely) benign	1 lab	1f3a18ab21
19:6478976 DENND1C C>G	19	6478976	6478976	C	G	DENND1C	c.268G>C	NM_024898.4	NP_079174.2:p.(Gly90Arg)	NC_000019.9:g.6478976C>G	(Likely) benign	1 lab	1f3a2f1f3e
19:23159073 ZNF728 T>TA	19	23159073	23159075	T	TA	ZNF728	c.1065dup	NM_001267716.2	NP_001254645.1:p.(Thr356TyrfsTer2)	NC_000019.9:g.23159075dup	VUS	1 lab	1f3c99361b
13:111156248 COL4A2 C>A	13	111156248	111156248	C	A	COL4A2	c.4193C>A	NM_001846.4	NP_001837.2:p.(Ala1398Asp)	NC_000013.10:g.111156248C>A	(Likely) benign	1 lab	1f3e8f96a7
10:131557544 MGMT C>T	10	131557544	131557544	C	T	MGMT	c.353C>T	NM_002412.5	NP_002403.3:p.(Ala118Val)	NC_000010.10:g.131557544C>T	VUS	1 lab	1f43b7782a
1:53363105 ECHDC2 A>G	1	53363105	53363105	A	G	ECHDC2	c.801+4T>C	NM_001198961.2	NP_001185890.1:p.?	NC_000001.10:g.53363105A>G	(Likely) benign	1 lab	1f4459e28b
1:240421302 FMN2 C>A	1	240421302	240421302	C	A	FMN2	c.4123C>A	NM_020066.5	NP_064450.3:p.(Leu1375Ile)	NC_000001.10:g.240421302C>A	VUS	1 lab	1f4629f96e
15:57574214 TCF12 C>G	15	57574214	57574214	C	G	TCF12	c.1979-429C>G	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57574214C>G	(Likely) benign	1 lab	1f46e4c0e8
16:30735699 SRCAP A>G	16	30735699	30735699	A	G	SRCAP	c.4954A>G	NM_006662.3	NP_006653.2:p.(Thr1652Ala)	NC_000016.9:g.30735699A>G	(Likely) benign	1 lab	1f4813b087
5:149644561 CAMK2A G>C	5	149644561	149644561	G	C	CAMK2A	c.175C>G	NM_015981.4	NP_057065.2:p.(Arg59Gly)	NC_000005.9:g.149644561G>C	VUS	1 lab	1f4817a383
14:50269386 NEMF C>T	14	50269386	50269386	C	T	NEMF	c.1974+1G>A	NM_004713.6	NP_004704.3:p.?	NC_000014.8:g.50269386C>T	VUS	1 lab	1f481a2d69
17:12916587 ELAC2 G>C	17	12916587	12916587	G	C	ELAC2	c.496C>G	NM_018127.7	NP_060597.4:p.(Arg166Gly)	NC_000017.10:g.12916587G>C	VUS	1 lab	1f487c1d01
3:160939746 NMD3 CTTTTTTTTTTTTTTTTTTT>C	3	160939746	160939776	CTTTTTTTTTTTTTTTTTTT	C	NMD3	c.-20-24_-20-6del	NM_015938.5	NP_057022.2:p.?	NC_000003.11:g.160939758_160939776del	(Likely) benign	1 lab	1f4a06c35d
15:31235251 FAN1 G>C	15	31235251	31235251	G	C	FAN1	c.*1486G>C	NM_014967.5	NP_055782.3:p.?	NC_000015.9:g.31235251G>C	(Likely) benign	1 lab	1f4a15751b
7:151860356 KMT2C T>C	7	151860356	151860356	T	C	KMT2C	c.10306A>G	NM_170606.3	NP_733751.2:p.(Met3436Val)	NC_000007.13:g.151860356T>C	(Likely) benign	1 lab	1f4ac8a7f3
12:48536638 PFKM A>T	12	48536638	48536638	A	T	PFKM	c.1727A>T	NM_000289.6	NP_000280.1:p.(Tyr576Phe)	NC_000012.11:g.48536638A>T	VUS	1 lab	1f4ba79a2f
6:43480181 YIPF3 C>G	6	43480181	43480181	C	G	YIPF3	c.901G>C	NM_015388.4	NP_056203.2:p.(Glu301Gln)	NC_000006.11:g.43480181C>G	(Likely) benign	1 lab	1f4d974b0f
12:132547090 EP400 A>AGCAG	12	132547090	132547091	A	AGCAG	EP400	c.8178_8179insGCAG	NM_015409.5	NP_056224.3:p.(Gln2727AlafsTer257)	NC_000012.11:g.132547090_132547091insGCAG	VUS	1 lab	1f4ea0db41
18:31325900 ASXL3 G>A	18	31325900	31325900	G	A	ASXL3	c.6088G>A	NM_030632.3	NP_085135.1:p.(Ala2030Thr)	NC_000018.9:g.31325900G>A	(Likely) benign	1 lab	1f50a8f24d
2:73115738 SPR G>A	2	73115738	73115738	G	A	SPR	c.595+5G>A	NM_003124.5	NP_003115.1:p.?	NC_000002.11:g.73115738G>A	VUS	1 lab	1f5190c63e
X:10463627 MID1 C>T	X	10463627	10463627	C	T	MID1	c.861G>A	NM_000381.4	NP_000372.1:p.(Gly287=)	NC_000023.10:g.10463627C>T	(Likely) benign	1 lab	1f5478f0bc
4:1801071 FGFR3 G>A	4	1801071	1801071	G	A	FGFR3	c.200G>A	NM_000142.5	NP_000133.1:p.(Gly67Asp)	NC_000004.11:g.1801071G>A	(Likely) benign	1 lab	1f55e9991d
6:73904307 KCNQ5 T>A	6	73904307	73904307	T	A	KCNQ5	c.1969T>A	NM_019842.4	NP_062816.2:p.(Tyr657Asn)	NC_000006.11:g.73904307T>A	VUS	1 lab	1f569b1fd0
1:216258076 USH2A C>T	1	216258076	216258076	C	T	USH2A	c.5131G>A	NM_206933.4	NP_996816.3:p.(Ala1711Thr)	NC_000001.10:g.216258076C>T	(Likely) benign	1 lab	1f571ce147
19:8168538 FBN3 C>T	19	8168538	8168538	C	T	FBN3	c.4847G>A	NM_032447.5	NP_115823.3:p.(Cys1616Tyr)	NC_000019.9:g.8168538C>T	VUS	1 lab	1f572d85f4
19:7172439 INSR A>G	19	7172439	7172439	A	G	INSR	c.1130T>C	NM_000208.4	NP_000199.2:p.(Leu377Pro)	NC_000019.9:g.7172439A>G	VUS	1 lab	1f59b082e2
16:30740885 SRCAP A>G	16	30740885	30740885	A	G	SRCAP	c.6119A>G	NM_006662.3	NP_006653.2:p.(Tyr2040Cys)	NC_000016.9:g.30740885A>G	VUS	1 lab	1f5de4b834
5:122700243 CEP120 G>A	5	122700243	122700243	G	A	CEP120	c.2527C>T	NM_001375405.1	NP_001362334.1:p.(His843Tyr)	NC_000005.9:g.122700243G>A	VUS	1 lab	1f5de64fc8
11:17482233 ABCC8 G>A	11	17482233	17482233	G	A	ABCC8	c.823-10C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17482233G>A	VUS	1 lab	1f5e3315a3
4:4864519 MSX1 G>A	4	4864519	4864519	G	A	MSX1	c.561G>A	NM_002448.3	NP_002439.2:p.(Leu187=)	NC_000004.11:g.4864519G>A	(Likely) benign	1 lab	1b84f91873
11:61547022 MYRF C>T	11	61547022	61547022	C	T	MYRF	c.2227C>T	NM_001127392.3	NP_001120864.1:p.(Pro743Ser)	NC_000011.9:g.61547022C>T	(Likely) benign	1 lab	1f5f90bbcc
1:152279532 FLG T>G	1	152279532	152279532	T	G	FLG	c.7830A>C	NM_002016.2	NP_002007.1:p.(Gln2610His)	NC_000001.10:g.152279532T>G	(Likely) benign	1 lab	1f607d119b
11:17415804 ABCC8 A>G	11	17415804	17415804	A	G	ABCC8	c.4545+9T>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17415804A>G	(Likely) benign	1 lab	1f60891cae
7:55540565 VOPP1 C>T	7	55540565	55540565	C	T	VOPP1	c.502G>A	NM_030796.5	NP_110423.3:p.(Val168Ile)	NC_000007.13:g.55540565C>T	VUS	1 lab	1f60dc2a47
2:152473983 NEB C>A	2	152473983	152473983	C	A	NEB	c.11077-1G>T	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152473983C>A	(Likely) benign	1 lab	1f61cca9e5
5:90136732 ADGRV1 C>G	5	90136732	90136732	C	G	ADGRV1	c.16949C>G	NM_032119.4	NP_115495.3:p.(Thr5650Ser)	NC_000005.9:g.90136732C>G	(Likely) benign	1 lab	1b85a83509
11:130340880 ADAMTS15 C>T	11	130340880	130340880	C	T	ADAMTS15	c.1786C>T	NM_139055.4	NP_620686.1:p.(Arg596Trp)	NC_000011.9:g.130340880C>T	VUS	1 lab	1f621b1ca6
16:70287176 AARS1 G>C	16	70287176	70287176	G	C	AARS1	c.2716C>G	NM_001605.3	NP_001596.2:p.(Pro906Ala)	NC_000016.9:g.70287176G>C	(Likely) benign	1 lab	1f62aa2d69
X:92928108 NAP1L3 CGCTGCT>C	X	92928108	92928128	CGCTGCT	C	NAP1L3	c.190_195del	NM_004538.6	NP_004529.2:p.(Ser64_Ser65del)	NC_000023.10:g.92928123_92928128del	VUS	1 lab	1f6360f9a1
16:2144126 PKD1 C>A	16	2144126	2144126	C	A	PKD1	c.10585G>T	NM_001009944.3	NP_001009944.3:p.(Glu3529Ter)	NC_000016.9:g.2144126C>A	(Likely) pathogenic	1 lab	1f63aa7ffd
2:238249462 COL6A3 C>T	2	238249462	238249462	C	T	COL6A3	c.8097G>A	NM_004369.4	NP_004360.2:p.(Val2699=)	NC_000002.11:g.238249462C>T	(Likely) benign	1 lab	1f65606744
17:43319434 FMNL1 TCCG>T	17	43319434	43319460	TCCG	T	FMNL1	c.1830_1832del	NM_005892.4	NP_005883.3:p.(Pro612del)	NC_000017.10:g.43319458_43319460del	VUS	1 lab	1f661f9bd1
2:152520121 NEB TGTTGTA>T	2	152520121	152520128	TGTTGTA	T	NEB	c.5698_5703del	NM_001164508.2	NP_001157980.2:p.(Tyr1900_Asn1901del)	NC_000002.11:g.152520123_152520128del	(Likely) pathogenic	1 lab	1f6797caf9
12:56527596 ESYT1 G>A	12	56527596	56527596	G	A	ESYT1	c.1412G>A	NM_015292.3	NP_056107.1:p.(Arg471Gln)	NC_000012.11:g.56527596G>A	(Likely) benign	1 lab	1f68560f7e
1:162557457 UAP1 A>G	1	162557457	162557457	A	G	UAP1	c.1027A>G	NM_001324116.5	NP_001311045.1:p.(Asn343Asp)	NC_000001.10:g.162557457A>G	(Likely) benign	1 lab	1f6c2cdfc2
2:215646240 BARD1 GA>G	2	215646240	215646247	GA	G	BARD1	c.365-8del	NM_000465.4	NP_000456.2:p.?	NC_000002.11:g.215646247del	(Likely) benign	1 lab	1f6c576314
11:2609956 KCNQ1 A>G	11	2609956	2609956	A	G	KCNQ1	c.1265A>G	NM_000218.3	NP_000209.2:p.(Lys422Arg)	NC_000011.9:g.2609956A>G	(Likely) benign	1 lab	1f6cc6c431
16:1840711 IGFALS C>T	16	1840711	1840711	C	T	IGFALS	c.1708G>A	NM_004970.3	NP_004961.1:p.(Asp570Asn)	NC_000016.9:g.1840711C>T	(Likely) benign	1 lab	1f6ea73053
11:62294743 AHNAK T>A	11	62294743	62294743	T	A	AHNAK	c.7146A>T	NM_001620.3	NP_001611.1:p.(Lys2382Asn)	NC_000011.9:g.62294743T>A	(Likely) benign	1 lab	1f6fb18a87
1:161496031 HSPA6 A>G	1	161496031	161496031	A	G	HSPA6	c.1583A>G	NM_002155.5	NP_002146.2:p.(Lys528Arg)	NC_000001.10:g.161496031A>G	VUS	1 lab	1f71807d33
7:104752740 KMT2E G>T	7	104752740	104752740	G	T	KMT2E	c.4537G>T	NM_182931.3	NP_891847.1:p.(Ala1513Ser)	NC_000007.13:g.104752740G>T	(Likely) benign	1 lab	1f72b2ba8c
14:50623839 SOS2 C>T	14	50623839	50623839	C	T	SOS2	c.1935G>A	NM_006939.4	NP_008870.2:p.(Arg645=)	NC_000014.8:g.50623839C>T	VUS	1 lab	1f72fad9d0
9:4117758 GLIS3 G>C	9	4117758	4117758	G	C	GLIS3	c.1710+10C>G	NM_001042413.2	NP_001035878.1:p.?	NC_000009.11:g.4117758G>C	(Likely) benign	1 lab	1f7ece2982
22:36662032 APOL1 A>G	22	36662032	36662032	A	G	APOL1	c.1150A>G	NM_003661.4	NP_003652.2:p.(Ile384Val)	NC_000022.10:g.36662032A>G	VUS	1 lab	1f80c143d7
2:27668294 IFT172 C>T	2	27668294	27668294	C	T	IFT172	c.4937G>A	NM_015662.3	NP_056477.1:p.(Arg1646Gln)	NC_000002.11:g.27668294C>T	VUS	1 lab	1f845c0125
5:228343 SDHA TG>T	5	228343	228345	TG	T	SDHA	c.667del	NM_004168.4	NP_004159.2:p.(Asp223IlefsTer3)	NC_000005.9:g.228345del	(Likely) pathogenic	1 lab	1f8840f63e
3:58145285 FLNB C>T	3	58145285	58145285	C	T	FLNB	c.6893C>T	NM_001457.4	NP_001448.2:p.(Ser2298Leu)	NC_000003.11:g.58145285C>T	VUS	1 lab	1f88b0a8d0
X:83351312 RPS6KA6 G>C	X	83351312	83351312	G	C	RPS6KA6	c.1861C>G	NM_014496.5	NP_055311.1:p.(Pro621Ala)	NC_000023.10:g.83351312G>C	VUS	1 lab	1f8a4a38f2
4:13582788 BOD1L1 C>A	4	13582788	13582788	C	A	BOD1L1	c.8636G>T	NM_148894.3	NP_683692.2:p.(Arg2879Leu)	NC_000004.11:g.13582788C>A	VUS	1 lab	1f8ab3f2d6
6:54002966 MLIP C>G	6	54002966	54002966	C	G	MLIP	c.2099C>G	NM_001281747.2	NP_001268676.1:p.(Pro700Arg)	NC_000006.11:g.54002966C>G	(Likely) benign	1 lab	1f8c22a763
19:41281790 MIA C>T	19	41281790	41281790	C	T	MIA	c.261C>T	NM_006533.4	NP_006524.1:p.(Ser87=)	NC_000019.9:g.41281790C>T	VUS	1 lab	1f8d83a5b2
11:118307487 KMT2A C>T	11	118307487	118307487	C	T	KMT2A	c.260C>T	NM_001197104.2	NP_001184033.1:p.(Ser87Leu)	NC_000011.9:g.118307487C>T	(Likely) benign	1 lab	1f8ee976ce
16:70515272 COG4 T>C	16	70515272	70515272	T	C	COG4	c.2225A>G	NM_015386.3	NP_056201.2:p.(Asn742Ser)	NC_000016.9:g.70515272T>C	VUS	1 lab	1f9083dcca
21:47410307 COL6A1 C>T	21	47410307	47410307	C	T	COL6A1	c.973C>T	NM_001848.3	NP_001839.2:p.(Arg325Cys)	NC_000021.8:g.47410307C>T	VUS	1 lab	1f90abf03a
X:75648901 MAGEE1 A>ATGAGGGACCAAGCACCTCCGTGCTGCCTACACCTGGTGAGGGACCAGGCACCTCCGTGCTGCCTACACCTGG	X	75648901	75648961	A	ATGAGGGACCAAGCACCTCCGTGCTGCCTACACCTGGTGAGGGACCAGGCACCTCCGTGCTGCCTACACCTGG	MAGEE1	c.637_638insTGCCTACACCTGGTGAGGGACCAAGCACCTCCGTGCTGCCTACACCTGGTGAGGGACCAGGCACCTCCGTGC	NM_020932.3	NP_065983.1:p.(Val212_Pro213insLeuProThrProGlyGluGlyProSerThrSerValLeuProThrProGlyGluGlyProGlyThrSerVal)	NC_000023.10:g.75648960_75648961insTGCCTACACCTGGTGAGGGACCAAGCACCTCCGTGCTGCCTACACCTGGTGAGGGACCAGGCACCTCCGTGC	VUS	1 lab	1f90eb48db
6:56463371 DST G>T	6	56463371	56463371	G	T	DST	c.11831C>A	NM_001374736.1	NP_001361665.1:p.(Ala3944Asp)	NC_000006.11:g.56463371G>T	(Likely) benign	1 lab	1f917cd46d
22:32111540 PRR14L T>C	22	32111540	32111540	T	C	PRR14L	c.2285A>G	NM_173566.3	NP_775837.2:p.(Lys762Arg)	NC_000022.10:g.32111540T>C	(Likely) benign	1 lab	1f93092d81
3:13896244 WNT7A T>A	3	13896244	13896244	T	A	WNT7A	c.355A>T	NM_004625.4	NP_004616.2:p.(Ile119Phe)	NC_000003.11:g.13896244T>A	VUS	1 lab	1f944d4496
2:220338476 SPEG G>A	2	220338476	220338476	G	A	SPEG	c.4298G>A	NM_005876.5	NP_005867.3:p.(Arg1433Gln)	NC_000002.11:g.220338476G>A	VUS	1 lab	1f94bb0c05
17:79096405 AATK G>C	17	79096405	79096405	G	C	AATK	c.1331C>G	NM_001080395.3	NP_001073864.2:p.(Ala444Gly)	NC_000017.10:g.79096405G>C	(Likely) benign	1 lab	1f952b9218
1:235577815 TBCE A>G	1	235577815	235577815	A	G	TBCE	c.253A>G	NM_003193.5	NP_003184.1:p.(Ile85Val)	NC_000001.10:g.235577815A>G	(Likely) benign	1 lab	1f970771f4
1:161202964 NR1I3 A>G	1	161202964	161202964	A	G	NR1I3	c.403T>C	NM_005122.5	NP_005113.1:p.(Phe135Leu)	NC_000001.10:g.161202964A>G	VUS	1 lab	1f9715ce08
17:60059975 MED13 A>G	17	60059975	60059975	A	G	MED13	c.3389T>C	NM_005121.3	NP_005112.2:p.(Met1130Thr)	NC_000017.10:g.60059975A>G	(Likely) benign	1 lab	1f97ae30e6
2:33413709 LTBP1 C>T	2	33413709	33413709	C	T	LTBP1	c.1492C>T	NM_206943.4	NP_996826.3:p.(His498Tyr)	NC_000002.11:g.33413709C>T	VUS	1 lab	1f981f41b1
16:31004786 STX1B A>G	16	31004786	31004786	A	G	STX1B	c.557T>C	NM_052874.5	NP_443106.1:p.(Met186Thr)	NC_000016.9:g.31004786A>G	VUS	1 lab	1f9a61a419
9:32481500 RIGI T>TAA	9	32481500	32481516	T	TAA	RIGI	c.1481-7_1481-6dup	NM_014314.4	NP_055129.2:p.?	NC_000009.11:g.32481515_32481516dup	(Likely) benign	1 lab	1f9a6374d7
1:201043702 CACNA1S G>A	1	201043702	201043702	G	A	CACNA1S	c.1995C>T	NM_000069.3	NP_000060.2:p.(Ala665=)	NC_000001.10:g.201043702G>A	(Likely) benign	1 lab	1f9e195ab1
2:42997305 HAAO G>A	2	42997305	42997305	G	A	HAAO	c.462C>T	NM_012205.3	NP_036337.2:p.(Tyr154=)	NC_000002.11:g.42997305G>A	(Likely) benign	1 lab	1f9ed66158
18:67727283 RTTN T>C	18	67727283	67727283	T	C	RTTN	c.4748-5A>G	NM_173630.4	NP_775901.3:p.?	NC_000018.9:g.67727283T>C	(Likely) benign	1 lab	1f9ee98dac
21:47423462 COL6A1 G>A	21	47423462	47423462	G	A	COL6A1	c.2622G>A	NM_001848.3	NP_001839.2:p.(Ala874=)	NC_000021.8:g.47423462G>A	(Likely) benign	1 lab	1f9efe34eb
X:79959009 BRWD3 A>ACGTC	X	79959009	79959013	A	ACGTC	BRWD3	c.2801_2804dup	NM_153252.5	NP_694984.5:p.(Ser936ThrfsTer11)	NC_000023.10:g.79959010_79959013dup	(Likely) pathogenic	1 lab	1f9f110747
X:54578798 GNL3L A>G	X	54578798	54578798	A	G	GNL3L	c.1255A>G	NM_001184819.2	NP_001171748.1:p.(Lys419Glu)	NC_000023.10:g.54578798A>G	(Likely) benign	1 lab	1fa1409261
X:54949041 TRO C>T	X	54949041	54949041	C	T	TRO	c.76C>T	NM_001039705.3	NP_001034794.1:p.(Leu26Phe)	NC_000023.10:g.54949041C>T	VUS	1 lab	1fa5e81d58
7:42005466 GLI3 T>C	7	42005466	42005466	T	C	GLI3	c.3205A>G	NM_000168.6	NP_000159.3:p.(Ile1069Val)	NC_000007.13:g.42005466T>C	VUS	1 lab	1fa663a9cc
X:118533500 SLC25A43 T>C	X	118533500	118533500	T	C	SLC25A43	c.134T>C	NM_145305.3	NP_660348.2:p.(Val45Ala)	NC_000023.10:g.118533500T>C	VUS	1 lab	1fa68541ca
4:77818798 SOWAHB T>G	4	77818798	77818798	T	G	SOWAHB	c.205A>C	NM_001029870.3	NP_001025041.1:p.(Lys69Gln)	NC_000004.11:g.77818798T>G	(Likely) benign	1 lab	1fa88d5765
2:219892263 CFAP65 G>A	2	219892263	219892263	G	A	CFAP65	c.2211+109C>T	NM_194302.4	NP_919278.2:p.?	NC_000002.11:g.219892263G>A	(Likely) benign	1 lab	1fa8d2a14a
X:19390807 MAP3K15 G>C	X	19390807	19390807	G	C	MAP3K15	c.3072C>G	NM_001001671.4	NP_001001671.3:p.(Asn1024Lys)	NC_000023.10:g.19390807G>C	(Likely) benign	1 lab	1faa70779b
7:92764263 SAMD9L A>G	7	92764263	92764263	A	G	SAMD9L	c.1022T>C	NM_152703.5	NP_689916.2:p.(Leu341Pro)	NC_000007.13:g.92764263A>G	VUS	1 lab	1fab186115
2:25459829 DNMT3A A>C	2	25459829	25459829	A	C	DNMT3A	c.2454T>G	NM_022552.5	NP_072046.2:p.(Cys818Trp)	NC_000002.11:g.25459829A>C	(Likely) pathogenic	1 lab	1fac0cf1c5
16:89265212 SLC22A31 C>G	16	89265212	89265212	C	G	SLC22A31	c.453-7G>C	NM_001384763.1	NP_001371692.1:p.?	NC_000016.9:g.89265212C>G	(Likely) benign	1 lab	1fad3dd1fe
1:7837235 VAMP3 C>T	1	7837235	7837235	C	T	VAMP3	c.88C>T	NM_004781.4	NP_004772.1:p.(Arg30Ter)	NC_000001.10:g.7837235C>T	VUS	1 lab	1fc9fb2f24
4:153809347 ARFIP1 A>C	4	153809347	153809347	A	C	ARFIP1	c.854A>C	NM_001025595.3	NP_001020766.1:p.(Asn285Thr)	NC_000004.11:g.153809347A>C	VUS	1 lab	1faf18286e
12:59307787 LRIG3 G>A	12	59307787	59307787	G	A	LRIG3	c.359C>T	NM_153377.5	NP_700356.2:p.(Ser120Leu)	NC_000012.11:g.59307787G>A	VUS	1 lab	1faf4947d7
7:101892050 CUX1 G>C	7	101892050	101892050	G	C	CUX1	c.4246G>C	NM_181552.4	NP_853530.2:p.(Ala1416Pro)	NC_000007.13:g.101892050G>C	(Likely) benign	1 lab	1fb0099c23
22:51159648 SHANK3 AC>A	22	51159648	51159651	AC	A	SHANK3	c.3615del	NM_001372044.2	NP_001358973.1:p.(Val1206CysfsTer64)	NC_000022.10:g.51159651del	(Likely) pathogenic	1 lab	1fb03df845
2:48018139 MSH6 A>G	2	48018139	48018139	A	G	MSH6	c.334A>G	NM_000179.3	NP_000170.1:p.(Asn112Asp)	NC_000002.11:g.48018139A>G	VUS	1 lab	1b812d5e58
X:41203491 DDX3X G>A	X	41203491	41203491	G	A	DDX3X	c.865-1G>A	NM_001356.5	NP_001347.3:p.?	NC_000023.10:g.41203491G>A	(Likely) pathogenic	1 lab	201ba9f4c6
16:23700977 PLK1 G>A	16	23700977	23700977	G	A	PLK1	c.1588G>A	NM_005030.6	NP_005021.2:p.(Val530Met)	NC_000016.9:g.23700977G>A	VUS	1 lab	1b82214df8
3:48629118 COL7A1 C>T	3	48629118	48629118	C	T	COL7A1	c.1495G>A	NM_000094.4	NP_000085.1:p.(Val499Met)	NC_000003.11:g.48629118C>T	VUS	1 lab	1b829ba432
11:130079478 ST14 C>T	11	130079478	130079478	C	T	ST14	c.2406+5C>T	NM_021978.4	NP_068813.1:p.?	NC_000011.9:g.130079478C>T	(Likely) benign	1 lab	1fb609f561
1:231503319 EGLN1 T>TA	1	231503319	231503320	T	TA	EGLN1	c.1211dup	NM_022051.3	NP_071334.1:p.(Thr405AsnfsTer3)	NC_000001.10:g.231503320dup	VUS	1 lab	1fb787c00a
X:48378772 PORCN A>C	X	48378772	48378772	A	C	PORCN	c.1294A>C	NM_203475.3	NP_982301.1:p.(Met432Leu)	NC_000023.10:g.48378772A>C	(Likely) benign	1 lab	1fb7d5621b
10:76602617 KAT6B T>C	10	76602617	76602617	T	C	KAT6B	c.2T>C	NM_012330.4	NP_036462.2:p.(Met1?)	NC_000010.10:g.76602617T>C	VUS	1 lab	1fb8672989
9:97081410 NUTM2F T>G	9	97081410	97081410	T	G	NUTM2F	c.1608A>C	NM_017561.2	NP_060031.1:p.(Arg536Ser)	NC_000009.11:g.97081410T>G	(Likely) benign	1 lab	1fb8c565aa
19:13051246 CALR C>T	19	13051246	13051246	C	T	CALR	c.682C>T	NM_004343.4	NP_004334.1:p.(Pro228Ser)	NC_000019.9:g.13051246C>T	(Likely) benign	1 lab	1fb97308f6
18:53018192 TCF4 T>C	18	53018192	53018192	T	C	TCF4	c.412A>G	NM_001083962.2	NP_001077431.1:p.(Thr138Ala)	NC_000018.9:g.53018192T>C	(Likely) benign	1 lab	1fb9be08a4
1:8420980 RERE G>C	1	8420980	8420980	G	C	RERE	c.2587C>G	NM_001042681.2	NP_001036146.1:p.(Leu863Val)	NC_000001.10:g.8420980G>C	(Likely) benign	1 lab	1fb9d9e239
5:93798141 KIAA0825 G>T	5	93798141	93798141	G	T	KIAA0825	c.2197C>A	NM_001145678.3	NP_001139150.1:p.(Leu733Met)	NC_000005.9:g.93798141G>T	VUS	1 lab	1fb9e0b9ad
17:7749212 KDM6B C>T	17	7749212	7749212	C	T	KDM6B	c.160C>T	NM_001348716.2	NP_001335645.1:p.(Pro54Ser)	NC_000017.10:g.7749212C>T	(Likely) benign	1 lab	1fbb680911
9:140127686 SLC34A3 G>A	9	140127686	140127686	G	A	SLC34A3	c.586G>A	NM_001177316.2	NP_001170787.2:p.(Gly196Arg)	NC_000009.11:g.140127686G>A	(Likely) pathogenic	1 lab	1fbc6e3d23
11:64522824 PYGM T>C	11	64522824	64522824	T	C	PYGM	c.776A>G	NM_005609.4	NP_005600.1:p.(Asn259Ser)	NC_000011.9:g.64522824T>C	VUS	1 lab	1fbcaef7dc
1:181764161 CACNA1E C>A	1	181764161	181764161	C	A	CACNA1E	c.6189C>A	NM_001205293.3	NP_001192222.1:p.(His2063Gln)	NC_000001.10:g.181764161C>A	VUS	1 lab	1fbd50135f
18:29617214 RNF125 C>T	18	29617214	29617214	C	T	RNF125	c.300C>T	NM_017831.4	NP_060301.2:p.(Cys100=)	NC_000018.9:g.29617214C>T	(Likely) benign	1 lab	1fbff4d626
X:66765463 AR G>A	X	66765463	66765463	G	A	AR	c.475G>A	NM_000044.6	NP_000035.2:p.(Ala159Thr)	NC_000023.10:g.66765463G>A	(Likely) benign	1 lab	1fc15ba695
19:31768582 TSHZ3 G>A	19	31768582	31768582	G	A	TSHZ3	c.2117C>T	NM_020856.4	NP_065907.2:p.(Thr706Met)	NC_000019.9:g.31768582G>A	VUS	1 lab	1fc2f6b74a
13:95264552 GPR180 A>G	13	95264552	95264552	A	G	GPR180	c.413A>G	NM_180989.6	NP_851320.1:p.(Asn138Ser)	NC_000013.10:g.95264552A>G	(Likely) benign	1 lab	1fc30c7340
3:113503275 ATP6V1A A>G	3	113503275	113503275	A	G	ATP6V1A	c.416A>G	NM_001690.4	NP_001681.2:p.(Lys139Arg)	NC_000003.11:g.113503275A>G	(Likely) benign	1 lab	1fc394e052
11:65824387 SF3B2 A>G	11	65824387	65824387	A	G	SF3B2	c.628A>G	NM_006842.3	NP_006833.2:p.(Met210Val)	NC_000011.9:g.65824387A>G	(Likely) benign	1 lab	1fc46a1224
15:34532911 SLC12A6 A>G	15	34532911	34532911	A	G	SLC12A6	c.2387T>C	NM_001365088.1	NP_001352017.1:p.(Ile796Thr)	NC_000015.9:g.34532911A>G	VUS	1 lab	1fc73ec8f4
17:33446748 RAD51D G>A	17	33446748	33446748	G	A	RAD51D	c.-116C>T	NM_002878.4	NP_002869.3:p.?	NC_000017.10:g.33446748G>A	VUS	1 lab	1fc8954fb4
1:84647362 PRKACB C>A	1	84647362	84647362	C	A	PRKACB	c.250-521C>A	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647362C>A	(Likely) benign	1 lab	1fc8db4d47
2:69409629 ANTXR1 G>A	2	69409629	69409629	G	A	ANTXR1	c.1190G>A	NM_032208.3	NP_115584.1:p.(Arg397His)	NC_000002.11:g.69409629G>A	VUS	1 lab	1fc9eb3ced
2:209116299 IDH1 G>GA	2	209116299	209116309	G	GA	IDH1	c.-16-9dup	NM_005896.4	NP_005887.2:p.?	NC_000002.11:g.209116309dup	(Likely) benign	1 lab	1fcab99a6c
2:227953514 COL4A4 G>A	2	227953514	227953514	G	A	COL4A4	c.1478C>T	NM_000092.5	NP_000083.3:p.(Ala493Val)	NC_000002.11:g.227953514G>A	(Likely) benign	1 lab	1fcbb1cedc
10:76788618 KAT6B G>T	10	76788618	76788618	G	T	KAT6B	c.4036G>T	NM_012330.4	NP_036462.2:p.(Asp1346Tyr)	NC_000010.10:g.76788618G>T	VUS	1 lab	1fccad8e85
3:53531431 CACNA1D T>G	3	53531431	53531431	T	G	CACNA1D	c.320T>G	NM_001128840.3	NP_001122312.1:p.(Phe107Cys)	NC_000003.11:g.53531431T>G	VUS	1 lab	1fccbb9d47
4:129099611 LARP1B G>T	4	129099611	129099611	G	T	LARP1B	c.1710G>T	NM_018078.4	NP_060548.2:p.(Lys570Asn)	NC_000004.11:g.129099611G>T	(Likely) benign	1 lab	1fce97afb9
2:172271239 METTL8 GA>G	2	172271239	172271253	GA	G	METTL8	c.-13+19153del	NM_001321154.2	NP_001308083.1:p.?	NC_000002.11:g.172271253del	(Likely) benign	1 lab	1fcfbea7a8
2:163144722 IFIH1 C>G	2	163144722	163144722	C	G	IFIH1	c.1018G>C	NM_022168.4	NP_071451.2:p.(Val340Leu)	NC_000002.11:g.163144722C>G	(Likely) pathogenic	1 lab	1fd101e4e2
11:68080223 LRP5 T>TGCC	11	68080223	68080226	T	TGCC	LRP5	c.43_44insCGC	NM_002335.4	NP_002326.2:p.(Leu14_Leu15insPro)	NC_000011.9:g.68080225_68080226insCGC	VUS	1 lab	1fd1591220
7:100283796 GIGYF1 C>T	7	100283796	100283796	C	T	GIGYF1	c.948+7G>A	NM_001375765.1	NP_001362694.1:p.?	NC_000007.13:g.100283796C>T	(Likely) benign	1 lab	1fd2031ffe
4:123855291 AFG2A C>T	4	123855291	123855291	C	T	AFG2A	c.545C>T	NM_145207.3	NP_660208.2:p.(Thr182Ile)	NC_000004.11:g.123855291C>T	VUS	1 lab	1fd2e01fc7
16:77369665 ADAMTS18 C>A	16	77369665	77369665	C	A	ADAMTS18	c.1847G>T	NM_199355.4	NP_955387.1:p.(Cys616Phe)	NC_000016.9:g.77369665C>A	VUS	1 lab	1fd2f0a742
X:123467806 TEX13D A>G	X	123467806	123467806	A	G	TEX13D	c.1039A>G	NM_001355534.2	NP_001342463.1:p.(Ser347Gly)	NC_000023.10:g.123467806A>G	VUS	1 lab	1fd5351763
19:1466136 APC2 C>A	19	1466136	1466136	C	A	APC2	c.2836C>A	NM_005883.3	NP_005874.1:p.(Pro946Thr)	NC_000019.9:g.1466136C>A	(Likely) benign	1 lab	1fd6018c47
3:128623255 ACAD9 G>C	3	128623255	128623255	G	C	ACAD9	c.1056G>C	NM_014049.5	NP_054768.2:p.(Lys352Asn)	NC_000003.11:g.128623255G>C	VUS	1 lab	1fd68aace2
20:42199704 SGK2 GGTGT>G	20	42199704	42199742	GGTGT	G	SGK2	c.510+39_510+42del	NM_170693.3	NP_733794.1:p.?	NC_000020.10:g.42199739_42199742del	VUS	1 lab	1fd75986c5
1:153891294 GATAD2B A>G	1	153891294	153891294	A	G	GATAD2B	c.-2+3915T>C	NM_020699.4	NP_065750.1:p.?	NC_000001.10:g.153891294A>G	(Likely) benign	1 lab	1fd7e95572
19:54783836 LILRB2 G>A	19	54783836	54783836	G	A	LILRB2	c.165C>T	NM_001080978.4	NP_001074447.2:p.(Ala55=)	NC_000019.9:g.54783836G>A	(Likely) benign	1 lab	1fd8ed7c60
1:151397526 POGZ T>C	1	151397526	151397526	T	C	POGZ	c.1090A>G	NM_015100.4	NP_055915.2:p.(Ile364Val)	NC_000001.10:g.151397526T>C	(Likely) benign	1 lab	1fda76d774
2:220416355 OBSL1 C>T	2	220416355	220416355	C	T	OBSL1	c.5579G>A	NM_015311.3	NP_056126.1:p.(Gly1860Asp)	NC_000002.11:g.220416355C>T	(Likely) benign	1 lab	1fdb3c55fb
4:121958329 NDNF C>T	4	121958329	121958329	C	T	NDNF	c.797G>A	NM_024574.4	NP_078850.3:p.(Arg266His)	NC_000004.11:g.121958329C>T	(Likely) benign	1 lab	1fdd7fdd25
16:2140660 PKD1 C>T	16	2140660	2140660	C	T	PKD1	c.12138+15G>A	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140660C>T	(Likely) benign	1 lab	1fde29f3a8
20:62854722 MYT1 C>T	20	62854722	62854722	C	T	MYT1	c.2528+10C>T	NM_004535.3	NP_004526.1:p.?	NC_000020.10:g.62854722C>T	(Likely) benign	1 lab	1fdeaba102
16:14041533 ERCC4 G>A	16	14041533	14041533	G	A	ERCC4	c.2080G>A	NM_005236.3	NP_005227.1:p.(Glu694Lys)	NC_000016.9:g.14041533G>A	VUS	1 lab	1fdebbd673
19:50905073 POLD1 C>T	19	50905073	50905073	C	T	POLD1	c.355C>T	NM_002691.4	NP_002682.2:p.(Arg119Cys)	NC_000019.9:g.50905073C>T	VUS	1 lab	1fe043c808
3:49455361 AMT A>G	3	49455361	49455361	A	G	AMT	c.923T>C	NM_000481.4	NP_000472.2:p.(Ile308Thr)	NC_000003.11:g.49455361A>G	VUS	1 lab	1fe130d0a2
22:41574882 EP300 C>T	22	41574882	41574882	C	T	EP300	c.7167C>T	NM_001429.4	NP_001420.2:p.(Ser2389=)	NC_000022.10:g.41574882C>T	(Likely) benign	1 lab	1fe15b49eb
1:120539676 NOTCH2 T>C	1	120539676	120539676	T	C	NOTCH2	c.695A>G	NM_024408.4	NP_077719.2:p.(Asn232Ser)	NC_000001.10:g.120539676T>C	(Likely) benign	1 lab	1fe1f914e5
7:766481 PRKAR1B A>G	7	766481	766481	A	G	PRKAR1B	c.-23+366T>C	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.766481A>G	(Likely) benign	1 lab	1fe45a52b9
17:15938257 NCOR1 T>C	17	15938257	15938257	T	C	NCOR1	c.6957A>G	NM_006311.4	NP_006302.2:p.(Gly2319=)	NC_000017.10:g.15938257T>C	(Likely) benign	1 lab	1fe5b68a11
4:126398496 FAT4 C>T	4	126398496	126398496	C	T	FAT4	c.12479+7C>T	NM_001291303.3	NP_001278232.1:p.?	NC_000004.11:g.126398496C>T	VUS	1 lab	1fe9f5743d
2:44565488 PREPL A>G	2	44565488	44565488	A	G	PREPL	c.888+2T>C	NM_001171613.2	NP_001165084.1:p.?	NC_000002.11:g.44565488A>G	(Likely) pathogenic	1 lab	1fed4015a2
17:79176032 CEP131 T>G	17	79176032	79176032	T	G	CEP131	c.788+8A>C	NM_014984.4	NP_055799.2:p.?	NC_000017.10:g.79176032T>G	(Likely) benign	1 lab	1fef1bbb4f
1:17609392 PADI3 C>A	1	17609392	17609392	C	A	PADI3	c.1813C>A	NM_016233.2	NP_057317.2:p.(Pro605Thr)	NC_000001.10:g.17609392C>A	(Likely) pathogenic	1 lab	1ff2494252
16:3712078 TRAP1 G>A	16	3712078	3712078	G	A	TRAP1	c.1850C>T	NM_016292.3	NP_057376.2:p.(Ala617Val)	NC_000016.9:g.3712078G>A	VUS	1 lab	1ff24dbd5c
9:135942220 CEL C>T	9	135942220	135942220	C	T	CEL	c.670-5C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942220C>T	(Likely) benign	1 lab	1ff310ac45
15:37184473 MEIS2 AG>A	15	37184473	37184478	AG	A	MEIS2	c.1334del	NM_170675.5	NP_733775.1:p.(Pro445LeufsTer6)	NC_000015.9:g.37184478del	VUS	1 lab	1ff35b9d32
10:121432161 BAG3 G>A	10	121432161	121432161	G	A	BAG3	c.902G>A	NM_004281.4	NP_004272.2:p.(Arg301Lys)	NC_000010.10:g.121432161G>A	VUS	1 lab	1ff381e90f
1:103491487 COL11A1 T>A	1	103491487	103491487	T	A	COL11A1	c.897+285A>T	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103491487T>A	VUS	1 lab	1ff3ce29d9
4:140291436 NAA15 GAAGAA>G	4	140291436	140291441	GAAGAA	G	NAA15	c.1826_1830del	NM_057175.5	NP_476516.1:p.(Glu609GlyfsTer20)	NC_000004.11:g.140291437_140291441del	(Likely) pathogenic	1 lab	1b8992c6db
9:131317629 SPTAN1 C>T	9	131317629	131317629	C	T	SPTAN1	c.-4+2654C>T	NM_001130438.3	NP_001123910.1:p.?	NC_000009.11:g.131317629C>T	(Likely) benign	1 lab	1ff4c8192e
16:70698034 MTSS2 G>A	16	70698034	70698034	G	A	MTSS2	c.1790C>T	NM_138383.3	NP_612392.1:p.(Thr597Met)	NC_000016.9:g.70698034G>A	(Likely) benign	1 lab	1ff4ca6f8c
11:118468418 ARCN1 A>G	11	118468418	118468418	A	G	ARCN1	c.1242-4A>G	NM_001655.5	NP_001646.2:p.?	NC_000011.9:g.118468418A>G	(Likely) benign	1 lab	1ff80d4c3d
6:160499381 IGF2R C>T	6	160499381	160499381	C	T	IGF2R	c.5465C>T	NM_000876.4	NP_000867.3:p.(Thr1822Met)	NC_000006.11:g.160499381C>T	(Likely) benign	1 lab	1ff85b7e9c
2:202068433 CASP10 C>T	2	202068433	202068433	C	T	CASP10	c.685-20C>T	NM_032977.3	NP_116759.2:p.?	NC_000002.11:g.202068433C>T	(Likely) benign	1 lab	1b891896f4
X:48544526 WAS G>A	X	48544526	48544526	G	A	WAS	c.559+3G>A	NM_000377.3	NP_000368.1:p.?	NC_000023.10:g.48544526G>A	(Likely) benign	1 lab	1ffb6a002a
11:102991426 DYNC2H1 G>T	11	102991426	102991426	G	T	DYNC2H1	c.1143G>T	NM_001377.3	NP_001368.2:p.(Trp381Cys)	NC_000011.9:g.102991426G>T	VUS	1 lab	1ffdf8b955
2:36737211 CRIM1 C>G	2	36737211	36737211	C	G	CRIM1	c.1587C>G	NM_016441.3	NP_057525.1:p.(Ile529Met)	NC_000002.11:g.36737211C>G	(Likely) benign	1 lab	1ffee5f2f8
17:29227582 TEFM TAAAAG>T	17	29227582	29227593	TAAAAG	T	TEFM	c.496-7_496-3del	NM_024683.4	NP_078959.3:p.?	NC_000017.10:g.29227589_29227593del	VUS	1 lab	1fff937418
2:73650006 ALMS1 C>A	2	73650006	73650006	C	A	ALMS1	c.668C>A	NM_001378454.1	NP_001365383.1:p.(Ser223Tyr)	NC_000002.11:g.73650006C>A	(Likely) benign	1 lab	20010a6b96
5:126140460 LMNB1 T>C	5	126140460	126140460	T	C	LMNB1	c.360-8T>C	NM_005573.4	NP_005564.1:p.?	NC_000005.9:g.126140460T>C	(Likely) benign	1 lab	2001427e57
19:1037844 CNN2 A>G	19	1037844	1037844	A	G	CNN2	c.875A>G	NM_004368.4	NP_004359.1:p.(Asp292Gly)	NC_000019.9:g.1037844A>G	(Likely) benign	1 lab	20031cb775
X:46618690 SLC9A7 C>T	X	46618690	46618690	C	T	SLC9A7				NC_000023.10:g.46618690C>T	VUS	1 lab	2003cdd011
15:43675492 TUBGCP4 T>A	15	43675492	43675492	T	A	TUBGCP4	c.522-9T>A	NM_014444.5	NP_055259.2:p.?	NC_000015.9:g.43675492T>A	(Likely) benign	1 lab	2003de6914
1:228346067 GJC2 G>A	1	228346067	228346067	G	A	GJC2	c.608G>A	NM_020435.4	NP_065168.2:p.(Arg203His)	NC_000001.10:g.228346067G>A	VUS	1 lab	20044ac5c2
16:23641220 PALB2 C>A	16	23641220	23641220	C	A	PALB2	c.2255G>T	NM_024675.4	NP_078951.2:p.(Gly752Val)	NC_000016.9:g.23641220C>A	VUS	1 lab	2004978a0b
1:147230617 GJA5 G>A	1	147230617	147230617	G	A	GJA5	c.730C>T	NM_181703.4	NP_859054.1:p.(His244Tyr)	NC_000001.10:g.147230617G>A	(Likely) benign	1 lab	2006a02197
12:23696136 SOX5 T>C	12	23696136	23696136	T	C	SOX5	c.1771+9A>G	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.23696136T>C	(Likely) benign	1 lab	200710d8fc
19:9061537 MUC16 C>T	19	9061537	9061537	C	T	MUC16	c.26029G>A	NM_001401501.2	NP_001388430.1:p.(Glu8677Lys)	NC_000019.9:g.9061537C>T	(Likely) benign	1 lab	20071b2165
1:8415555 RERE C>A	1	8415555	8415555	C	A	RERE	c.4591G>T	NM_001042681.2	NP_001036146.1:p.(Ala1531Ser)	NC_000001.10:g.8415555C>A	VUS	1 lab	20080eb3ac
8:119123278 EXT1 G>A	8	119123278	119123278	G	A	EXT1	c.8C>T	NM_000127.3	NP_000118.2:p.(Ala3Val)	NC_000008.10:g.119123278G>A	VUS	1 lab	200927d4b2
16:89258778 CDH15 C>A	16	89258778	89258778	C	A	CDH15	c.1781C>A	NM_004933.3	NP_004924.1:p.(Ala594Glu)	NC_000016.9:g.89258778C>A	(Likely) benign	1 lab	2009d40cab
8:144997436 PLEC G>A	8	144997436	144997436	G	A	PLEC	c.6661C>T	NM_201384.3	NP_958786.1:p.(Arg2221Cys)	NC_000008.10:g.144997436G>A	(Likely) benign	1 lab	200b3b48bb
11:124564245 SPA17 A>G	11	124564245	124564245	A	G	SPA17	c.359A>G	NM_017425.4	NP_059121.1:p.(Lys120Arg)	NC_000011.9:g.124564245A>G	(Likely) benign	1 lab	200b7b996a
15:42147032 SPTBN5 C>A	15	42147032	42147032	C	A	SPTBN5	c.9566G>T	NM_016642.4	NP_057726.4:p.(Arg3189Leu)	NC_000015.9:g.42147032C>A	VUS	1 lab	200c00004f
1:39783013 MACF1 G>T	1	39783013	39783013	G	T	MACF1	c.3716G>T	NM_001394062.1	NP_001380991.1:p.(Arg1239Leu)	NC_000001.10:g.39783013G>T	(Likely) benign	1 lab	200c7e257b
11:17429924 ABCC8 C>G	11	17429924	17429924	C	G	ABCC8	c.2820+15G>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17429924C>G	(Likely) benign	1 lab	200c9d6b1e
7:31014669 GHRHR CCAG>C	7	31014669	31014672	CCAG	C	GHRHR	c.882+15_882+17del	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31014670_31014672del	(Likely) benign	1 lab	200cfb189d
5:149515338 PDGFRB G>C	5	149515338	149515338	G	C	PDGFRB	c.144C>G	NM_002609.4	NP_002600.1:p.(Ser48Arg)	NC_000005.9:g.149515338G>C	(Likely) benign	1 lab	200e972ba7
X:24329251 SUPT20HL2 C>T	X	24329251	24329251	C	T	SUPT20HL2	c.2182G>A	NM_001136233.3	NP_001129705.3:p.(Val728Met)	NC_000023.10:g.24329251C>T	VUS	1 lab	200f036109
10:114910748 TCF7L2 G>A	10	114910748	114910748	G	A	TCF7L2	c.876-9G>A	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114910748G>A	(Likely) benign	1 lab	200f4081f5
2:113147666 RGPD8 C>A	2	113147666	113147666	C	A	RGPD8	c.2856G>T	NM_001164463.1	NP_001157935.1:p.(Arg952Ser)	NC_000002.11:g.113147666C>A	(Likely) benign	1 lab	2013098f07
16:88791993 PIEZO1 A>C	16	88791993	88791993	A	C	PIEZO1	c.4058+10T>G	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88791993A>C	(Likely) benign	1 lab	201375ed8c
9:133260102 HMCN2 G>A	9	133260102	133260102	G	A	HMCN2	c.9023G>A	NM_001291815.2	NP_001278744.1:p.(Arg3008Gln)	NC_000009.11:g.133260102G>A	VUS	1 lab	201393e8ee
20:62326206 RTEL1 G>A	20	62326206	62326206	G	A	RTEL1	c.3222G>A	NM_001283009.2	NP_001269938.1:p.(Ala1074=)	NC_000020.10:g.62326206G>A	(Likely) benign	1 lab	20146477e0
6:143091853 HIVEP2 G>C	6	143091853	143091853	G	C	HIVEP2	c.4023C>G	NM_006734.4	NP_006725.3:p.(His1341Gln)	NC_000006.11:g.143091853G>C	VUS	1 lab	2017459a8f
17:61995880 GH1 A>G	17	61995880	61995880	A	G	GH1	c.11-14T>C	NM_000515.5	NP_000506.2:p.?	NC_000017.10:g.61995880A>G	(Likely) benign	1 lab	2018da9d34
9:140693325 EHMT1 C>T	9	140693325	140693325	C	T	EHMT1	c.2566C>T	NM_024757.5	NP_079033.4:p.(Gln856Ter)	NC_000009.11:g.140693325C>T	(Likely) pathogenic	1 lab	201a70712d
12:57114152 NACA T>C	12	57114152	57114152	T	C	NACA	c.1162A>G	NM_001365896.1	NP_001352825.1:p.(Ile388Val)	NC_000012.11:g.57114152T>C	VUS	1 lab	20204d310f
4:158253993 GRIA2 A>G	4	158253993	158253993	A	G	GRIA2	c.905A>G	NM_001083619.3	NP_001077088.2:p.(Asp302Gly)	NC_000004.11:g.158253993A>G	VUS	1 lab	2020bcfee0
16:1652418 IFT140 C>T	16	1652418	1652418	C	T	IFT140	c.322G>A	NM_014714.4	NP_055529.2:p.(Val108Met)	NC_000016.9:g.1652418C>T	(Likely) benign	1 lab	20219fee5c
12:110605745 IFT81 C>T	12	110605745	110605745	C	T	IFT81	c.1188+4875C>T	NM_014055.4	NP_054774.2:p.?	NC_000012.11:g.110605745C>T	(Likely) benign	1 lab	2021e6971b
2:233620907 GIGYF2 CTTTTTTTTTT>C	2	233620907	233620927	CTTTTTTTTTT	C	GIGYF2	c.268-15_268-6del	NM_001103146.3	NP_001096616.1:p.?	NC_000002.11:g.233620918_233620927del	VUS	1 lab	20233dc75d
22:46656278 PKDREJ G>A	22	46656278	46656278	G	A	PKDREJ	c.2942C>T	NM_006071.2	NP_006062.1:p.(Thr981Met)	NC_000022.10:g.46656278G>A	VUS	1 lab	2024cbe6ed
5:76344778 AGGF1 A>G	5	76344778	76344778	A	G	AGGF1	c.1331A>G	NM_018046.5	NP_060516.2:p.(His444Arg)	NC_000005.9:g.76344778A>G	VUS	1 lab	2025781b7e
9:35657916 RMRP G>A	9	35657916	35657916	G	A	RMRP	n.100C>T	NR_003051.3		NC_000009.11:g.35657916G>A	(Likely) pathogenic	1 lab	1b89f7ff4b
4:183664505 TENM3 G>A	4	183664505	183664505	G	A	TENM3	c.3562G>A	NM_001080477.4	NP_001073946.1:p.(Val1188Ile)	NC_000004.11:g.183664505G>A	VUS	1 lab	20266c2434
16:75589712 TMEM231 G>A	16	75589712	75589712	G	A	TMEM231	c.299C>T	NM_001077418.3	NP_001070886.1:p.(Pro100Leu)	NC_000016.9:g.75589712G>A	VUS	1 lab	2026da25a2
11:375458 B4GALNT4 C>T	11	375458	375458	C	T	B4GALNT4	c.784-3C>T	NM_178537.5	NP_848632.2:p.?	NC_000011.9:g.375458C>T	(Likely) benign	1 lab	20273c2aed
15:23891603 MAGEL2 C>CGGTGGTGGGCCAGGGCGGATG	15	23891603	23891647	C	CGGTGGTGGGCCAGGGCGGATG	MAGEL2	c.1266_1286dup	NM_019066.5	NP_061939.3:p.(Ile423_Pro429dup)	NC_000015.9:g.23891627_23891647dup	VUS	1 lab	2029818c54
3:178951926 PIK3CA A>G	3	178951926	178951926	A	G	PIK3CA	c.2981A>G	NM_006218.4	NP_006209.2:p.(His994Arg)	NC_000003.11:g.178951926A>G	VUS	1 lab	202b996922
6:33543693 BAK1 G>A	6	33543693	33543693	G	A	BAK1	c.83C>T	NM_001188.4	NP_001179.1:p.(Ala28Val)	NC_000006.11:g.33543693G>A	(Likely) benign	1 lab	202c900ffd
X:53349828 IQSEC2 G>A	X	53349828	53349828	G	A	IQSEC2	c.494C>T	NM_001111125.3	NP_001104595.1:p.(Ala165Val)	NC_000023.10:g.53349828G>A	(Likely) benign	1 lab	202d67ab8f
19:1456114 APC2 C>T	19	1456114	1456114	C	T	APC2	c.679C>T	NM_005883.3	NP_005874.1:p.(Leu227=)	NC_000019.9:g.1456114C>T	(Likely) benign	1 lab	20315a1766
11:125478107 STT3A TTG>T	11	125478107	125478109	TTG	T	STT3A	c.885_886del	NM_152713.5	NP_689926.1:p.(Phe295LeufsTer45)	NC_000011.9:g.125478108_125478109del	VUS	1 lab	2031fd89b0
6:42075104 C6orf132 GGGTGGGGGTTCCAGCAGCAGGGGAGGT>G	6	42075104	42075140	GGGTGGGGGTTCCAGCAGCAGGGGAGGT	G	C6orf132	c.519_545del	NM_001164446.3	NP_001157918.1:p.(Leu176_Pro184del)	NC_000006.11:g.42075114_42075140del	(Likely) benign	1 lab	20320c3787
15:48888513 FBN1 T>C	15	48888513	48888513	T	C	FBN1	c.505A>G	NM_000138.5	NP_000129.3:p.(Thr169Ala)	NC_000015.9:g.48888513T>C	VUS	1 lab	2033136cc0
16:3900880 CREBBP C>A	16	3900880	3900880	C	A	CREBBP	c.216G>T	NM_004380.3	NP_004371.2:p.(Glu72Asp)	NC_000016.9:g.3900880C>A	(Likely) benign	1 lab	203315119c
12:21623284 RECQL C>CAAA	12	21623284	21623300	C	CAAA	RECQL	c.1798-7_1798-5dup	NM_002907.4	NP_002898.2:p.?	NC_000012.11:g.21623298_21623300dup	(Likely) benign	1 lab	2035322d7f
X:10427689 MID1 T>TTGTC	X	10427689	10427694	T	TTGTC	MID1	c.1440_1443dup	NM_000381.4	NP_000372.1:p.(Asn482AspfsTer7)	NC_000023.10:g.10427691_10427694dup	(Likely) pathogenic	1 lab	203849f907
8:145140584 GPAA1 G>A	8	145140584	145140584	G	A	GPAA1	c.1560G>A	NM_003801.4	NP_003792.1:p.(Leu520=)	NC_000008.10:g.145140584G>A	VUS	1 lab	203ba8b231
4:15709186 BST1 C>T	4	15709186	15709186	C	T	BST1	c.368C>T	NM_004334.3	NP_004325.2:p.(Thr123Ile)	NC_000004.11:g.15709186C>T	VUS	1 lab	203d0dcf2e
X:153073941 PDZD4 C>T	X	153073941	153073941	C	T	PDZD4	c.170G>A	NM_001303512.2	NP_001290441.1:p.(Arg57Gln)	NC_000023.10:g.153073941C>T	(Likely) benign	1 lab	203dcdeb1c
5:14290917 TRIO A>C	5	14290917	14290917	A	C	TRIO	c.633A>C	NM_007118.4	NP_009049.2:p.(Glu211Asp)	NC_000005.9:g.14290917A>C	(Likely) benign	1 lab	2041481988
10:89474585 PAPSS2 T>C	10	89474585	89474585	T	C	PAPSS2	c.604T>C	NM_001015880.2	NP_001015880.1:p.(Cys202Arg)	NC_000010.10:g.89474585T>C	VUS	1 lab	2041bf0522
22:29446695 ZNRF3 G>A	22	29446695	29446695	G	A	ZNRF3	c.2526G>A	NM_001206998.2	NP_001193927.1:p.(Leu842=)	NC_000022.10:g.29446695G>A	VUS	1 lab	2042ac9d4c
17:38798806 SMARCE1 C>A	17	38798806	38798806	C	A	SMARCE1	c.57G>T	NM_003079.5	NP_003070.3:p.(Met19Ile)	NC_000017.10:g.38798806C>A	VUS	1 lab	20439e5c3d
11:17388832 NCR3LG1 C>A	11	17388832	17388832	C	A	NCR3LG1	c.698C>A	NM_001202439.3	NP_001189368.1:p.(Ala233Glu)	NC_000011.9:g.17388832C>A	(Likely) benign	1 lab	20441d2e28
8:43047451 HGSNAT T>C	8	43047451	43047451	T	C	HGSNAT	c.1255T>C	NM_152419.3	NP_689632.2:p.(Tyr419His)	NC_000008.10:g.43047451T>C	VUS	1 lab	2045f45330
8:144997835 PLEC G>A	8	144997835	144997835	G	A	PLEC	c.6262C>T	NM_201384.3	NP_958786.1:p.(Arg2088Trp)	NC_000008.10:g.144997835G>A	(Likely) benign	1 lab	2047ec8686
1:204124146 REN AGCGGGCC>A	1	204124146	204124153	AGCGGGCC	A	REN	c.1212_1218del	NM_000537.4	NP_000528.1:p.(Leu404PhefsTer57)	NC_000001.10:g.204124147_204124153del	VUS	1 lab	20480b1634
19:47882985 DHX34 C>T	19	47882985	47882985	C	T	DHX34	c.2725C>T	NM_014681.6	NP_055496.2:p.(Arg909Trp)	NC_000019.9:g.47882985C>T	VUS	1 lab	20482d9187
4:3769920 ADRA2C G>T	4	3769920	3769920	G	T	ADRA2C	c.*198G>T	NM_000683.4	NP_000674.2:p.?	NC_000004.11:g.3769920G>T	(Likely) benign	1 lab	204b9a82e4
8:41583202 ANK1 G>A	8	41583202	41583202	G	A	ANK1	c.612+77C>T	NM_000037.4	NP_000028.3:p.?	NC_000008.10:g.41583202G>A	(Likely) benign	1 lab	1b8d8cc338
12:34175589 ALG10 G>A	12	34175589	34175589	G	A	ALG10	c.55G>A	NM_032834.4	NP_116223.3:p.(Val19Ile)	NC_000012.11:g.34175589G>A	VUS	1 lab	204cc2fef0
10:50947753 OGDHL C>T	10	50947753	50947753	C	T	OGDHL	c.2273G>A	NM_018245.3	NP_060715.2:p.(Arg758Gln)	NC_000010.10:g.50947753C>T	VUS	1 lab	204cf937dd
12:121877719 KDM2B T>C	12	121877719	121877719	T	C	KDM2B	c.3770A>G	NM_032590.5	NP_115979.3:p.(Asn1257Ser)	NC_000012.11:g.121877719T>C	(Likely) benign	1 lab	204d2ea8ca
2:238290097 COL6A3 G>A	2	238290097	238290097	G	A	COL6A3	c.1358C>T	NM_004369.4	NP_004360.2:p.(Ser453Leu)	NC_000002.11:g.238290097G>A	VUS	1 lab	204d8b0ac1
5:71495882 MAP1B G>T	5	71495882	71495882	G	T	MAP1B	c.6700G>T	NM_005909.5	NP_005900.2:p.(Ala2234Ser)	NC_000005.9:g.71495882G>T	(Likely) benign	1 lab	204e3ea222
3:191093189 CCDC50 C>T	3	191093189	191093189	C	T	CCDC50	c.787C>T	NM_178335.3	NP_848018.1:p.(Arg263Ter)	NC_000003.11:g.191093189C>T	(Likely) benign	1 lab	204e806016
2:25466796 DNMT3A A>G	2	25466796	25466796	A	G	DNMT3A	c.1907T>C	NM_022552.5	NP_072046.2:p.(Val636Ala)	NC_000002.11:g.25466796A>G	(Likely) pathogenic	1 lab	204f3fee59
19:39219811 ACTN4 C>T	19	39219811	39219811	C	T	ACTN4	c.2577+17C>T	NM_004924.6	NP_004915.2:p.?	NC_000019.9:g.39219811C>T	(Likely) benign	1 lab	1b8e53b6cc
1:156524139 IQGAP3 C>A	1	156524139	156524139	C	A	IQGAP3	c.1336G>T	NM_178229.5	NP_839943.3:p.(Ala446Ser)	NC_000001.10:g.156524139C>A	(Likely) benign	1 lab	2051307fc3
19:46269235 SIX5 C>T	19	46269235	46269235	C	T	SIX5	c.1744G>A	NM_175875.5	NP_787071.3:p.(Gly582Ser)	NC_000019.9:g.46269235C>T	(Likely) benign	1 lab	205547b400
15:90173625 KIF7 G>A	15	90173625	90173625	G	A	KIF7	c.3211C>T	NM_198525.3	NP_940927.2:p.(Arg1071Trp)	NC_000015.9:g.90173625G>A	VUS	1 lab	2055d75ae4
16:28493652 CLN3 G>A	16	28493652	28493652	G	A	CLN3	c.958C>T	NM_001042432.2	NP_001035897.1:p.(Arg320Cys)	NC_000016.9:g.28493652G>A	VUS	1 lab	2059e2896d
X:140993508 MAGEC1 G>T	X	140993508	140993508	G	T	MAGEC1	c.318G>T	NM_005462.5	NP_005453.2:p.(Lys106Asn)	NC_000023.10:g.140993508G>T	VUS	1 lab	205d9161cc
12:124824869 NCOR2 G>A	12	124824869	124824869	G	A	NCOR2	c.5459C>T	NM_006312.6	NP_006303.4:p.(Thr1820Met)	NC_000012.11:g.124824869G>A	(Likely) benign	1 lab	205dcb3ebd
9:136419614 ADAMTSL2 G>A	9	136419614	136419614	G	A	ADAMTSL2	c.1075G>A	NM_014694.4	NP_055509.2:p.(Gly359Arg)	NC_000009.11:g.136419614G>A	VUS	1 lab	205f0f72d2
7:142997047 CASP2 A>T	7	142997047	142997047	A	T	CASP2	c.779A>T	NM_032982.4	NP_116764.2:p.(Gln260Leu)	NC_000007.13:g.142997047A>T	(Likely) benign	1 lab	205fbb401f
6:54002744 MLIP G>T	6	54002744	54002744	G	T	MLIP	c.1877G>T	NM_001281747.2	NP_001268676.1:p.(Arg626Ile)	NC_000006.11:g.54002744G>T	(Likely) benign	1 lab	205fec4903
12:113837366 SDS T>C	12	113837366	113837366	T	C	SDS	c.148A>G	NM_006843.3	NP_006834.2:p.(Lys50Glu)	NC_000012.11:g.113837366T>C	VUS	1 lab	2061b26ba4
6:117240348 RFX6 T>TTCCTTGGAATGAAACCCAA	6	117240348	117240349	T	TTCCTTGGAATGAAACCCAA	RFX6	c.1071_1072insTCCTTGGAATGAAACCCAA	NM_173560.4	NP_775831.2:p.(Val358SerfsTer4)	NC_000006.11:g.117240348_117240349insTCCTTGGAATGAAACCCAA	(Likely) pathogenic	1 lab	20636b3908
6:111708978 REV3L CTCTTTG>C	6	111708978	111708991	CTCTTTG	C	REV3L	c.846_851del	NM_001286431.2	NP_001273360.1:p.(Asp282_Lys283del)	NC_000006.11:g.111708986_111708991del	VUS	1 lab	1b89fc77ae
17:42290177 UBTF G>A	17	42290177	42290177	G	A	UBTF	c.660+10C>T	NM_014233.4	NP_055048.1:p.?	NC_000017.10:g.42290177G>A	(Likely) benign	1 lab	2066154586
1:160104376 ATP1A2 C>T	1	160104376	160104376	C	T	ATP1A2	c.1930C>T	NM_000702.4	NP_000693.1:p.(Arg644Trp)	NC_000001.10:g.160104376C>T	VUS	1 lab	2067d51054
14:97319487 VRK1 A>G	14	97319487	97319487	A	G	VRK1	c.560A>G	NM_003384.3	NP_003375.1:p.(Tyr187Cys)	NC_000014.8:g.97319487A>G	(Likely) benign	1 lab	2069831232
21:30698998 BACH1 G>A	21	30698998	30698998	G	A	BACH1	c.853G>A	NM_001186.4	NP_001177.1:p.(Ala285Thr)	NC_000021.8:g.30698998G>A	(Likely) benign	1 lab	206ae6e8d9
20:21695347 PAX1 C>T	20	21695347	21695347	C	T	PAX1	c.*147C>T	NM_001257096.2	NP_001244025.1:p.?	NC_000020.10:g.21695347C>T	(Likely) benign	1 lab	206b42a4d6
12:122985305 ZCCHC8 T>C	12	122985305	122985305	T	C	ZCCHC8	c.83A>G	NM_017612.5	NP_060082.2:p.(His28Arg)	NC_000012.11:g.122985305T>C	(Likely) benign	1 lab	206b4a60aa
17:4575439 PELP1 CTCCTCT>C	17	4575439	4575447	CTCCTCT	C	PELP1	c.2841_2846del	NM_014389.3	NP_055204.4:p.(Glu948_Glu949del)	NC_000017.10:g.4575442_4575447del	VUS	1 lab	206c341e76
1:196197371 KCNT2 C>T	1	196197371	196197371	C	T	KCNT2	c.3391G>A	NM_198503.5	NP_940905.2:p.(Glu1131Lys)	NC_000001.10:g.196197371C>T	VUS	1 lab	1b8cf71170
4:994690 IDUA G>A	4	994690	994690	G	A	IDUA	c.406G>A	NM_000203.5	NP_000194.2:p.(Ala136Thr)	NC_000004.11:g.994690G>A	VUS	1 lab	206e5a8faf
7:38829675 VPS41 T>G	7	38829675	38829675	T	G	VPS41	c.718-208A>C	NM_014396.4	NP_055211.2:p.?	NC_000007.13:g.38829675T>G	(Likely) benign	1 lab	206e86e549
9:711547 KANK1 C>T	9	711547	711547	C	T	KANK1	c.781C>T	NM_015158.5	NP_055973.2:p.(Gln261Ter)	NC_000009.11:g.711547C>T	VUS	1 lab	206e9e2763
8:145008236 PLEC A>G	8	145008236	145008236	A	G	PLEC	c.1193T>C	NM_201384.3	NP_958786.1:p.(Val398Ala)	NC_000008.10:g.145008236A>G	VUS	1 lab	206ef62c92
8:77775448 ZFHX4 ACCT>A	8	77775448	77775469	ACCT	A	ZFHX4	c.9517_9519del	NM_024721.5	NP_078997.4:p.(Pro3173del)	NC_000008.10:g.77775467_77775469del	(Likely) benign	1 lab	2072ee4c67
17:7667554 DNAH2 C>T	17	7667554	7667554	C	T	DNAH2	c.3299C>T	NM_020877.5	NP_065928.2:p.(Ala1100Val)	NC_000017.10:g.7667554C>T	(Likely) benign	1 lab	207407b88f
11:130066261 ST14 C>A	11	130066261	130066261	C	A	ST14	c.1141C>A	NM_021978.4	NP_068813.1:p.(Arg381Ser)	NC_000011.9:g.130066261C>A	(Likely) benign	1 lab	2074432e92
6:129601204 LAMA2 A>G	6	129601204	129601204	A	G	LAMA2	c.2451-2A>G	NM_000426.4	NP_000417.3:p.?	NC_000006.11:g.129601204A>G	(Likely) pathogenic	1 lab	207581e315
11:6424869 APBB1 A>C	11	6424869	6424869	A	C	APBB1	c.897+8T>G	NM_001164.5	NP_001155.1:p.?	NC_000011.9:g.6424869A>C	(Likely) benign	1 lab	2076ba2b91
17:8051008 PER1 G>A	17	8051008	8051008	G	A	PER1	c.1372C>T	NM_002616.3	NP_002607.2:p.(Arg458Cys)	NC_000017.10:g.8051008G>A	VUS	1 lab	2077d11033
5:7896969 MTRR C>T	5	7896969	7896969	C	T	MTRR	c.1677-8C>T	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7896969C>T	(Likely) benign	1 lab	2079464c6c
7:44096485 DBNL G>C	7	44096485	44096485	G	C	DBNL	c.457G>C	NM_001014436.3	NP_001014436.1:p.(Gly153Arg)	NC_000007.13:g.44096485G>C	(Likely) benign	1 lab	2079bca98d
21:47419697 COL6A1 C>T	21	47419697	47419697	C	T	COL6A1	c.1776+91C>T	NM_001848.2	NP_001839.2:p.?	NC_000021.8:g.47419697C>T	(Likely) benign	1 lab	1b927b0555
19:11170729 SMARCA4 G>A	19	11170729	11170729	G	A	SMARCA4	c.4777G>A	NM_003072.5	NP_003063.2:p.(Val1593Ile)	NC_000019.9:g.11170729G>A	VUS	1 lab	207b7a9656
16:29825745 PRRT2 G>A	16	29825745	29825745	G	A	PRRT2	c.971G>A	NM_145239.2	NP_660282.2:p.(Gly324Glu)	NC_000016.9:g.29825745G>A	(Likely) pathogenic	1 lab	1b92bd7ff8
X:30877801 TAB3 TA>T	X	30877801	30877816	TA	T	TAB3	c.-90-7del	NM_152787.5	NP_690000.3:p.?	NC_000023.10:g.30877816del	VUS	1 lab	207c70d7c8
8:97243295 UQCRB C>A	8	97243295	97243295	C	A	UQCRB	c.324G>T	NM_006294.5	NP_006285.1:p.(Trp108Cys)	NC_000008.10:g.97243295C>A	VUS	1 lab	207c8851a7
19:36213579 KMT2B G>T	19	36213579	36213579	G	T	KMT2B	c.2681G>T	NM_014727.3	NP_055542.1:p.(Ser894Ile)	NC_000019.9:g.36213579G>T	VUS	1 lab	207ed60e10
X:12701660 FRMPD4 T>C	X	12701660	12701660	T	C	FRMPD4	c.527T>C	NM_001368397.1	NP_001355326.1:p.(Val176Ala)	NC_000023.10:g.12701660T>C	VUS	1 lab	208093f422
15:51223004 AP4E1 G>T	15	51223004	51223004	G	T	AP4E1	c.705G>T	NM_007347.5	NP_031373.2:p.(Glu235Asp)	NC_000015.9:g.51223004G>T	(Likely) benign	1 lab	208169ae4a
5:14488193 TRIO TGGAGCTCCATCC>T	5	14488193	14488205	TGGAGCTCCATCC	T	TRIO	c.7457_7468del	NM_007118.4	NP_009049.2:p.(Trp2486_Pro2490delinsSer)	NC_000005.9:g.14488194_14488205del	(Likely) benign	1 lab	208304fd39
7:45112368 CCM2 G>A	7	45112368	45112368	G	A	CCM2	c.789G>A	NM_031443.4	NP_113631.1:p.(Val263=)	NC_000007.13:g.45112368G>A	VUS	1 lab	20833da570
8:11406598 BLK T>C	8	11406598	11406598	T	C	BLK	c.335T>C	NM_001715.3	NP_001706.2:p.(Phe112Ser)	NC_000008.10:g.11406598T>C	(Likely) benign	1 lab	20839c6bf3
5:176618978 NSD1 A>G	5	176618978	176618978	A	G	NSD1	c.1021A>G	NM_022455.5	NP_071900.2:p.(Ile341Val)	NC_000005.9:g.176618978A>G	VUS	1 lab	2084f055d7
3:25470023 RARB G>A	3	25470023	25470023	G	A	RARB	c.-200G>A	NM_000965.5	NP_000956.2:p.?	NC_000003.11:g.25470023G>A	VUS	1 lab	20850ca612
17:10543570 MYH3 T>G	17	10543570	10543570	T	G	MYH3	c.2427-2A>C	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10543570T>G	(Likely) pathogenic	1 lab	2085259444
3:9487366 SETD5 CAGA>C	3	9487366	9487375	CAGA	C	SETD5	c.1473_1475del	NM_001080517.3	NP_001073986.1:p.(Glu492del)	NC_000003.11:g.9487373_9487375del	(Likely) benign	1 lab	2086567be9
16:3893915 CREBBP C>T	16	3893915	3893915	C	T	CREBBP	c.798+6383G>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3893915C>T	VUS	1 lab	2086787de6
6:75866241 COL12A1 T>C	6	75866241	75866241	T	C	COL12A1	c.2984-2A>G	NM_004370.6	NP_004361.3:p.?	NC_000006.11:g.75866241T>C	VUS	1 lab	208703d347
20:2375899 TGM6 C>T	20	2375899	2375899	C	T	TGM6	c.241C>T	NM_198994.3	NP_945345.2:p.(Arg81Trp)	NC_000020.10:g.2375899C>T	VUS	1 lab	208af2ed06
1:114380508 PTPN22 G>C	1	114380508	114380508	G	C	PTPN22	c.1514C>G	NM_015967.8	NP_057051.4:p.(Ser505Cys)	NC_000001.10:g.114380508G>C	(Likely) benign	1 lab	208bf4fa50
10:88476162 LDB3 A>C	10	88476162	88476162	A	C	LDB3	c.1310A>C	NM_007078.3	NP_009009.1:p.(Tyr437Ser)	NC_000010.10:g.88476162A>C	(Likely) benign	1 lab	208cdf798d
10:72294183 PALD1 C>T	10	72294183	72294183	C	T	PALD1	c.1025C>T	NM_014431.3	NP_055246.2:p.(Ala342Val)	NC_000010.10:g.72294183C>T	(Likely) benign	1 lab	208e1504d3
7:156802866 MNX1 G>A	7	156802866	156802866	G	A	MNX1	c.179C>T	NM_005515.4	NP_005506.3:p.(Pro60Leu)	NC_000007.13:g.156802866G>A	VUS	1 lab	208ea9db18
15:45444215 DUOX1 C>G	15	45444215	45444215	C	G	DUOX1	c.3158C>G	NM_175940.3	NP_787954.1:p.(Ala1053Gly)	NC_000015.9:g.45444215C>G	(Likely) benign	1 lab	208f84977c
2:166901603 SCN1A T>C	2	166901603	166901603	T	C	SCN1A	c.1612A>G	NM_001165963.4	NP_001159435.1:p.(Ile538Val)	NC_000002.11:g.166901603T>C	VUS	1 lab	20934eeddf
12:115110046 TBX3 G>T	12	115110046	115110046	G	T	TBX3	c.1772C>A	NM_005996.4	NP_005987.3:p.(Ala591Glu)	NC_000012.11:g.115110046G>T	(Likely) benign	1 lab	2094563918
17:57181685 TRIM37 C>T	17	57181685	57181685	C	T	TRIM37	c.92G>A	NM_015294.6	NP_056109.1:p.(Cys31Tyr)	NC_000017.10:g.57181685C>T	VUS	1 lab	2095d2174e
19:38979894 RYR1 AGAG>A	19	38979894	38979905	AGAG	A	RYR1	c.5634_5636del	NM_000540.3	NP_000531.2:p.(Glu1878del)	NC_000019.9:g.38979903_38979905del	(Likely) benign	1 lab	2096f45a5f
X:46434603 CHST7 G>A	X	46434603	46434603	G	A	CHST7	c.1237G>A	NM_019886.4	NP_063939.2:p.(Ala413Thr)	NC_000023.10:g.46434603G>A	VUS	1 lab	2098038ff5
5:176952187 FAM193B A>C	5	176952187	176952187	A	C	FAM193B	c.1295T>G	NM_001190946.3	NP_001177875.1:p.(Leu432Trp)	NC_000005.9:g.176952187A>C	VUS	1 lab	2098b6fca5
1:40773178 COL9A2 T>C	1	40773178	40773178	T	C	COL9A2	c.955-7A>G	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40773178T>C	(Likely) benign	1 lab	209bfe10ff
6:73331925 KCNQ5 G>T	6	73331925	73331925	G	T	KCNQ5	c.8G>T	NM_019842.4	NP_062816.2:p.(Arg3Leu)	NC_000006.11:g.73331925G>T	VUS	1 lab	311ded743c
17:7752296 KDM6B A>C	17	7752296	7752296	A	C	KDM6B	c.2690A>C	NM_001348716.2	NP_001335645.1:p.(Gln897Pro)	NC_000017.10:g.7752296A>C	(Likely) benign	1 lab	209c116bdb
17:60060366 MED13 T>A	17	60060366	60060366	T	A	MED13	c.2998A>T	NM_005121.3	NP_005112.2:p.(Ile1000Phe)	NC_000017.10:g.60060366T>A	VUS	1 lab	209d996137
17:40370821 STAT5B C>A	17	40370821	40370821	C	A	STAT5B	c.909G>T	NM_012448.4	NP_036580.2:p.(Leu303=)	NC_000017.10:g.40370821C>A	VUS	1 lab	209dfd0c1b
9:139327030 INPP5E C>T	9	139327030	139327030	C	T	INPP5E	c.1288G>A	NM_019892.6	NP_063945.2:p.(Gly430Arg)	NC_000009.11:g.139327030C>T	VUS	1 lab	209e01f5a8
14:68352648 RAD51B T>G	14	68352648	68352648	T	G	RAD51B	c.515T>G	NM_133510.4	NP_598194.1:p.(Leu172Trp)	NC_000014.8:g.68352648T>G	(Likely) benign	1 lab	209e29f23b
6:74310129 SLC17A5 A>G	6	74310129	74310129	A	G	SLC17A5	c.1295T>C	NM_012434.5	NP_036566.1:p.(Phe432Ser)	NC_000006.11:g.74310129A>G	VUS	1 lab	209e897db5
17:40265812 KAT2A C>T	17	40265812	40265812	C	T	KAT2A	c.2369G>A	NM_021078.3	NP_066564.2:p.(Arg790Gln)	NC_000017.10:g.40265812C>T	(Likely) benign	1 lab	209ecad761
19:11098495 SMARCA4 A>G	19	11098495	11098495	A	G	SMARCA4	c.1013A>G	NM_003072.5	NP_003063.2:p.(Gln338Arg)	NC_000019.9:g.11098495A>G	(Likely) benign	1 lab	209fa3beb4
20:485818 CSNK2A1 C>T	20	485818	485818	C	T	CSNK2A1	c.157G>A	NM_177559.3	NP_808227.1:p.(Val53Ile)	NC_000020.10:g.485818C>T	(Likely) pathogenic	1 lab	20a0956e0f
2:168106407 XIRP2 A>G	2	168106407	168106407	A	G	XIRP2	c.8505A>G	NM_152381.6	NP_689594.4:p.(Leu2835=)	NC_000002.11:g.168106407A>G	VUS	1 lab	20a11c878a
9:117877 FOXD4 C>T	9	117877	117877	C	T	FOXD4	c.243G>A	NM_207305.5	NP_997188.2:p.(Glu81=)	NC_000009.11:g.117877C>T	(Likely) benign	1 lab	1b8d9aaf63
4:996851 IDUA A>G	4	996851	996851	A	G	IDUA	c.1430A>G	NM_000203.5	NP_000194.2:p.(Asp477Gly)	NC_000004.11:g.996851A>G	VUS	1 lab	20a3584bbc
6:35050593 ANKS1A T>C	6	35050593	35050593	T	C	ANKS1A	c.2835T>C	NM_015245.3	NP_056060.2:p.(Asn945=)	NC_000006.11:g.35050593T>C	(Likely) benign	1 lab	20a391bef8
10:61828705 ANK3 G>GGTGGTGGTGGTAGTGGTGGTA	10	61828705	61828737	G	GGTGGTGGTGGTAGTGGTGGTA	ANK3	c.11913_11933dup	NM_020987.5	NP_066267.2:p.(Thr3972_Thr3978dup)	NC_000010.10:g.61828717_61828737dup	VUS	1 lab	20a39f6ee0
17:33475355 UNC45B G>A	17	33475355	33475355	G	A	UNC45B	c.73G>A	NM_001267052.2	NP_001253981.1:p.(Ala25Thr)	NC_000017.10:g.33475355G>A	VUS	1 lab	20a463dd8e
6:70981363 COL9A1 G>A	6	70981363	70981363	G	A	COL9A1	c.1138C>T	NM_001851.6	NP_001842.3:p.(Pro380Ser)	NC_000006.11:g.70981363G>A	VUS	1 lab	20a4d18bb8
2:200246491 SATB2 A>C	2	200246491	200246491	A	C	SATB2	c.399T>G	NM_001172509.2	NP_001165980.1:p.(Asp133Glu)	NC_000002.11:g.200246491A>C	VUS	1 lab	20a5540b18
X:154754266 TMLHE C>T	X	154754266	154754266	C	T	TMLHE	c.209G>A	NM_018196.4	NP_060666.1:p.(Arg70His)	NC_000023.10:g.154754266C>T	VUS	1 lab	20a722c4b3
4:15554924 CC2D2A C>T	4	15554924	15554924	C	T	CC2D2A	c.2482C>T	NM_001378615.1	NP_001365544.1:p.(Arg828Trp)	NC_000004.11:g.15554924C>T	VUS	1 lab	20a75c8968
X:24226389 ZFX A>ATGC	X	24226389	24226395	A	ATGC	ZFX	c.999_1001dup	NM_003410.4	NP_003401.2:p.(Ala341dup)	NC_000023.10:g.24226393_24226395dup	(Likely) benign	1 lab	20a7633ecb
3:195514357 MUC4 TC>T	3	195514357	195514358	TC	T	MUC4	c.4093del	NM_018406.7	NP_060876.5:p.(Asp1365MetfsTer79)	NC_000003.11:g.195514358del	(Likely) benign	1 lab	20a79ce767
X:49032069 PRICKLE3 C>A	X	49032069	49032069	C	A	PRICKLE3	c.1801G>T	NM_006150.5	NP_006141.2:p.(Ala601Ser)	NC_000023.10:g.49032069C>A	(Likely) benign	1 lab	20a7b35f36
13:28608473 FLT3 C>T	13	28608473	28608473	C	T	FLT3	c.1669G>A	NM_004119.3	NP_004110.2:p.(Val557Ile)	NC_000013.10:g.28608473C>T	(Likely) benign	1 lab	20a98d026c
2:152362730 NEB T>G	2	152362730	152362730	T	G	NEB	c.23599A>C	NM_001164508.2	NP_001157980.2:p.(Lys7867Gln)	NC_000002.11:g.152362730T>G	(Likely) benign	1 lab	20ab24f23d
3:38888921 SCN11A A>G	3	38888921	38888921	A	G	SCN11A	c.4640T>C	NM_001349253.2	NP_001336182.1:p.(Ile1547Thr)	NC_000003.11:g.38888921A>G	(Likely) benign	1 lab	20ab927ac8
17:11608399 DNAH9 G>A	17	11608399	11608399	G	A	DNAH9	c.5449G>A	NM_001372.4	NP_001363.2:p.(Glu1817Lys)	NC_000017.10:g.11608399G>A	VUS	1 lab	20abb0ab12
2:220078897 ABCB6 G>C	2	220078897	220078897	G	C	ABCB6	c.1398C>G	NM_005689.4	NP_005680.1:p.(Tyr466Ter)	NC_000002.11:g.220078897G>C	VUS	1 lab	20abb20188
9:137007841 WDR5 C>T	9	137007841	137007841	C	T	WDR5	c.528C>T	NM_017588.3	NP_060058.1:p.(Ala176=)	NC_000009.11:g.137007841C>T	(Likely) benign	1 lab	20ad6a236a
15:89392884 ACAN G>A	15	89392884	89392884	G	A	ACAN	c.1948G>A	NM_001369268.1	NP_001356197.1:p.(Val650Met)	NC_000015.9:g.89392884G>A	VUS	1 lab	20afa0be85
4:6303210 WFS1 ACTTCCT>A	4	6303210	6303225	ACTTCCT	A	WFS1	c.1698_1703del	NM_006005.3	NP_005996.2:p.(Leu567_Phe568del)	NC_000004.11:g.6303220_6303225del	(Likely) pathogenic	1 lab	20b1f84e63
5:36111361 LMBRD2 C>G	5	36111361	36111361	C	G	LMBRD2	c.1641-1G>C	NM_001007527.2	NP_001007528.1:p.?	NC_000005.9:g.36111361C>G	VUS	1 lab	20b2867dcc
19:18260232 MAST3 C>T	19	18260232	18260232	C	T	MAST3	c.3740C>T	NM_001393504.1	NP_001380433.1:p.(Pro1247Leu)	NC_000019.9:g.18260232C>T	VUS	1 lab	20b405b277
6:29643226 ZFP57 G>T	6	29643226	29643226	G	T	ZFP57	c.289C>A	NM_001109809.5	NP_001103279.2:p.(Leu97Ile)	NC_000006.11:g.29643226G>T	(Likely) benign	1 lab	20b5239bfc
17:73485353 TMEM94 C>T	17	73485353	73485353	C	T	TMEM94	c.771C>T	NM_014738.6	NP_055553.3:p.(Cys257=)	NC_000017.10:g.73485353C>T	(Likely) benign	1 lab	20b525f78b
17:78346870 RNF213 C>A	17	78346870	78346870	C	A	RNF213	c.12847C>A	NM_001256071.3	NP_001243000.2:p.(Leu4283Ile)	NC_000017.10:g.78346870C>A	(Likely) benign	1 lab	20b5591380
6:79727195 PHIP C>T	6	79727195	79727195	C	T	PHIP	c.1095+5G>A	NM_017934.7	NP_060404.4:p.?	NC_000006.11:g.79727195C>T	VUS	1 lab	20b59b9faa
X:27999264 DCAF8L1 G>A	X	27999264	27999264	G	A	DCAF8L1	c.188C>T	NM_001017930.2	NP_001017930.1:p.(Ala63Val)	NC_000023.10:g.27999264G>A	(Likely) benign	1 lab	20b6937e55
2:111875388 ACOXL C>T	2	111875388	111875388	C	T	ACOXL	c.1738C>T	NM_001142807.4	NP_001136279.1:p.(Leu580Phe)	NC_000002.11:g.111875388C>T	(Likely) benign	1 lab	20b736a151
12:57039747 ATP5F1B T>G	12	57039747	57039747	T	G	ATP5F1B	c.1A>C	NM_001686.4	NP_001677.2:p.(Met1?)	NC_000012.11:g.57039747T>G	VUS	1 lab	20b91438d1
11:18354623 GTF2H1 T>C	11	18354623	18354623	T	C	GTF2H1	c.2T>C	NM_005316.4	NP_005307.1:p.(Met1?)	NC_000011.9:g.18354623T>C	VUS	1 lab	20b9176204
21:44837484 SIK1 C>T	21	44837484	44837484	C	T	SIK1	c.1915G>A	NM_173354.5	NP_775490.2:p.(Gly639Ser)	NC_000021.8:g.44837484C>T	(Likely) benign	1 lab	20b92e20d2
14:76455273 IFT43 G>A	14	76455273	76455273	G	A	IFT43	c.100G>A	NM_001102564.3	NP_001096034.1:p.(Glu34Lys)	NC_000014.8:g.76455273G>A	VUS	1 lab	20bae57f63
12:31246160 DDX11 TCCGTTGGCTTCTTCTCAGGAAGCGTTTGAAGGCCAAGAA>T	12	31246160	31246201	TCCGTTGGCTTCTTCTCAGGAAGCGTTTGAAGGCCAAGAA	T	DDX11	c.1290-16_1312del	NM_030653.4	NP_085911.2:p.?	NC_000012.11:g.31246163_31246201del	(Likely) benign	1 lab	20bb21784c
16:56947230 SLC12A3 G>C	16	56947230	56947230	G	C	SLC12A3	c.3006G>C	NM_000339.3	NP_000330.3:p.(Trp1002Cys)	NC_000016.9:g.56947230G>C	(Likely) pathogenic	1 lab	1b92f3a29c
3:58097998 FLNB G>A	3	58097998	58097998	G	A	FLNB	c.2698G>A	NM_001457.4	NP_001448.2:p.(Asp900Asn)	NC_000003.11:g.58097998G>A	VUS	1 lab	20bd757b34
15:63967065 HERC1 C>G	15	63967065	63967065	C	G	HERC1	c.7322G>C	NM_003922.4	NP_003913.3:p.(Arg2441Pro)	NC_000015.9:g.63967065C>G	VUS	1 lab	20c1e46fc6
7:48443368 ABCA13 A>T	7	48443368	48443368	A	T	ABCA13	c.11962A>T	NM_152701.5	NP_689914.3:p.(Ile3988Phe)	NC_000007.13:g.48443368A>T	VUS	1 lab	20c2eab863
11:75277880 SERPINH1 C>G	11	75277880	75277880	C	G	SERPINH1	c.486C>G	NM_001235.5	NP_001226.2:p.(Asn162Lys)	NC_000011.9:g.75277880C>G	VUS	1 lab	20c335de96
17:78064142 CCDC40 A>ACAC	17	78064142	78064145	A	ACAC	CCDC40	c.2832+461_2832+462insCCA	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064144_78064145insCCA	VUS	1 lab	20c348423d
19:49173757 NTN5 C>T	19	49173757	49173757	C	T	NTN5	c.487G>A	NM_145807.4	NP_665806.1:p.(Ala163Thr)	NC_000019.9:g.49173757C>T	VUS	1 lab	20c3bcf661
7:91830717 KRIT1 C>T	7	91830717	91830717	C	T	KRIT1	c.2046G>A	NM_194454.3	NP_919436.1:p.(Lys682=)	NC_000007.13:g.91830717C>T	(Likely) benign	1 lab	20c4a229f6
1:22175164 HSPG2 C>A	1	22175164	22175164	C	A	HSPG2	c.7709G>T	NM_005529.7	NP_005520.4:p.(Arg2570Leu)	NC_000001.10:g.22175164C>A	VUS	1 lab	20c4d07941
17:48695693 CACNA1G G>A	17	48695693	48695693	G	A	CACNA1G	c.5416G>A	NM_018896.5	NP_061496.2:p.(Gly1806Ser)	NC_000017.10:g.48695693G>A	VUS	1 lab	20c6fad202
9:140637822 EHMT1 G>T	9	140637822	140637822	G	T	EHMT1	c.824-1G>T	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140637822G>T	(Likely) benign	1 lab	20c7208100
17:7399303 POLR2A C>T	17	7399303	7399303	C	T	POLR2A	c.137C>T	NM_000937.5	NP_000928.1:p.(Thr46Met)	NC_000017.10:g.7399303C>T	(Likely) benign	1 lab	20c7c63f1a
17:42987595 GFAP T>G	17	42987595	42987595	T	G	GFAP	c.1171+388A>C	NM_002055.5	NP_002046.1:p.?	NC_000017.10:g.42987595T>G	VUS	1 lab	20c852471e
18:58038985 MC4R T>C	18	58038985	58038985	T	C	MC4R	c.598A>G	NM_005912.3	NP_005903.2:p.(Met200Val)	NC_000018.9:g.58038985T>C	VUS	1 lab	20d8f7b9f1
4:153244235 FBXW7 G>C	4	153244235	153244235	G	C	FBXW7	c.1922C>G	NM_001349798.2	NP_001336727.1:p.(Ser641Ter)	NC_000004.11:g.153244235G>C	VUS	1 lab	20c8a91c29
2:61463469 USP34 G>T	2	61463469	61463469	G	T	USP34	c.6833C>A	NM_014709.4	NP_055524.3:p.(Thr2278Lys)	NC_000002.11:g.61463469G>T	VUS	1 lab	20c8e783d3
11:103019205 DYNC2H1 A>G	11	103019205	103019205	A	G	DYNC2H1	c.2819-14A>G	NM_001080463.2	NP_001073932.1:p.?	NC_000011.9:g.103019205A>G	(Likely) pathogenic	1 lab	1b910cbb23
6:18226425 DEK T>A	6	18226425	18226425	T	A	DEK	c.1096A>T	NM_003472.4	NP_003463.1:p.(Ile366Leu)	NC_000006.11:g.18226425T>A	VUS	1 lab	20ccc63b14
4:39471691 LIAS C>T	4	39471691	39471691	C	T	LIAS	c.790C>T	NM_006859.4	NP_006850.2:p.(His264Tyr)	NC_000004.11:g.39471691C>T	VUS	1 lab	20cd10334c
12:675233 NINJ2 G>A	12	675233	675233	G	A	NINJ2	c.145C>T	NM_016533.6	NP_057617.3:p.(Arg49Trp)	NC_000012.11:g.675233G>A	VUS	1 lab	20cdfc1c9b
17:60038265 MED13 A>C	17	60038265	60038265	A	C	MED13	c.5443T>G	NM_005121.3	NP_005112.2:p.(Leu1815Val)	NC_000017.10:g.60038265A>C	VUS	1 lab	20cf55e67f
10:104404424 TRIM8 T>G	10	104404424	104404424	T	G	TRIM8	c.50T>G	NM_030912.3	NP_112174.2:p.(Ile17Ser)	NC_000010.10:g.104404424T>G	VUS	1 lab	20cf7e5031
12:124841328 NCOR2 G>T	12	124841328	124841328	G	T	NCOR2	c.3101C>A	NM_006312.6	NP_006303.4:p.(Ala1034Asp)	NC_000012.11:g.124841328G>T	VUS	1 lab	20d014c675
19:50713351 MYH14 C>A	19	50713351	50713351	C	A	MYH14	c.-3-269C>A	NM_001145809.2	NP_001139281.1:p.?	NC_000019.9:g.50713351C>A	(Likely) benign	1 lab	20d4e420cc
16:58631393 CNOT1 G>C	16	58631393	58631393	G	C	CNOT1	c.102+1747C>G	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58631393G>C	(Likely) benign	1 lab	20d525d998
1:152284808 FLG T>A	1	152284808	152284808	T	A	FLG	c.2554A>T	NM_002016.2	NP_002007.1:p.(Arg852Trp)	NC_000001.10:g.152284808T>A	VUS	1 lab	20d5c3c138
5:149924933 NDST1 G>A	5	149924933	149924933	G	A	NDST1	c.2030G>A	NM_001543.5	NP_001534.1:p.(Ser677Asn)	NC_000005.9:g.149924933G>A	VUS	1 lab	20d680717f
9:35061571 VCP C>T	9	35061571	35061571	C	T	VCP	c.1194+3G>A	NM_007126.5	NP_009057.1:p.?	NC_000009.11:g.35061571C>T	(Likely) benign	1 lab	20d838cc50
3:47162045 SETD2 G>C	3	47162045	47162045	G	C	SETD2	c.4081C>G	NM_014159.7	NP_054878.5:p.(Gln1361Glu)	NC_000003.11:g.47162045G>C	(Likely) benign	1 lab	20d8f484e3
2:160205551 BAZ2B C>T	2	160205551	160205551	C	T	BAZ2B	c.5104G>A	NM_013450.4	NP_038478.2:p.(Val1702Ile)	NC_000002.11:g.160205551C>T	VUS	1 lab	20d8f78dfd
7:6080853 EIF2AK1 GAA>G	7	6080853	6080866	GAA	G	EIF2AK1	c.792-5_792-4del	NM_014413.4	NP_055228.2:p.?	NC_000007.13:g.6080865_6080866del	VUS	1 lab	20d930c9b5
2:169850388 ABCB11 T>C	2	169850388	169850388	T	C	ABCB11	c.616A>G	NM_003742.4	NP_003733.2:p.(Ile206Val)	NC_000002.11:g.169850388T>C	(Likely) benign	1 lab	20d9d716e2
22:21336650 LZTR1 G>A	22	21336650	21336650	G	A	LZTR1	c.-11G>A	NM_006767.4	NP_006758.2:p.?	NC_000022.10:g.21336650G>A	(Likely) benign	1 lab	20da8967e3
20:61477034 TCFL5 G>A	20	61477034	61477034	G	A	TCFL5	c.1381-3585C>T	NM_006602.4	NP_006593.2:p.?	NC_000020.10:g.61477034G>A	(Likely) benign	1 lab	20dce8d78f
4:15569310 CC2D2A G>A	4	15569310	15569310	G	A	CC2D2A	c.3299G>A	NM_001378615.1	NP_001365544.1:p.(Arg1100His)	NC_000004.11:g.15569310G>A	VUS	1 lab	20dd9e8fc0
8:72156836 EYA1 A>G	8	72156836	72156836	A	G	EYA1	c.1140+2T>C	NM_000503.5	NP_000494.2:p.?	NC_000008.10:g.72156836A>G	(Likely) pathogenic	1 lab	1b97402fd4
7:107204427 DUS4L CAG>C	7	107204427	107204429	CAG	C	DUS4L	c.-337_-336del	NM_181581.3	NP_853559.1:p.?	NC_000007.13:g.107204428_107204429del	(Likely) benign	1 lab	20de4c6200
11:46900735 LRP4 CAG>C	11	46900735	46900739	CAG	C	LRP4	c.2944_2945del	NM_002334.4	NP_002325.2:p.(Leu982AlafsTer32)	NC_000011.9:g.46900738_46900739del	VUS	1 lab	20dfc129e1
22:42609531 TCF20 T>C	22	42609531	42609531	T	C	TCF20	c.1781A>G	NM_001378418.1	NP_001365347.1:p.(Asp594Gly)	NC_000022.10:g.42609531T>C	(Likely) benign	1 lab	20e069e0dd
8:27779582 SCARA5 G>A	8	27779582	27779582	G	A	SCARA5	c.422C>T	NM_173833.6	NP_776194.2:p.(Ala141Val)	NC_000008.10:g.27779582G>A	(Likely) benign	1 lab	20e36e1819
1:206634610 MISSING G>A	1	206634610	206634610	G	A	MISSING				NC_000001.10:g.206634610G>A	VUS	1 lab	1b98cd1716
15:26793291 GABRB3 C>T	15	26793291	26793291	C	T	GABRB3	c.1081-10G>A	NM_000814.6	NP_000805.1:p.?	NC_000015.9:g.26793291C>T	(Likely) benign	1 lab	1b9c2149be
12:113599071 DDX54 T>C	12	113599071	113599071	T	C	DDX54	c.2413+4A>G	NM_024072.4	NP_076977.3:p.?	NC_000012.11:g.113599071T>C	(Likely) benign	1 lab	20e6d4aede
7:74193642 NCF1 G>T	7	74193642	74193642	G	T	NCF1	c.269G>T	NM_000265.6	NP_000256.4:p.(Arg90Leu)	NC_000007.13:g.74193642G>T	VUS	1 lab	217375e330
1:221053600 HLX A>AGCAGCAACAGCCGCC	1	221053600	221053613	A	AGCAGCAACAGCCGCC	HLX	c.413_414insGCCGCAGCAACAGCC	NM_021958.4	NP_068777.1:p.(Gln135_Pro139dup)	NC_000001.10:g.221053612_221053613insGCCGCAGCAACAGCC	VUS	1 lab	20e9316969
6:3154414 TUBB2A A>G	6	3154414	3154414	A	G	TUBB2A	c.1021T>C	NM_001069.3	NP_001060.1:p.(Phe341Leu)	NC_000006.11:g.3154414A>G	VUS	1 lab	20e94f6158
X:111000948 ALG13 G>A	X	111000948	111000948	G	A	ALG13	c.3106G>A	NM_001099922.3	NP_001093392.1:p.(Val1036Met)	NC_000023.10:g.111000948G>A	VUS	1 lab	20ebf883f2
16:726121 RHBDL1 G>C	16	726121	726121	G	C	RHBDL1	c.40-215G>C	NM_001278720.2	NP_001265649.1:p.?	NC_000016.9:g.726121G>C	VUS	1 lab	20ec24dac0
15:91489935 UNC45A C>T	15	91489935	91489935	C	T	UNC45A	c.1291C>T	NM_018671.5	NP_061141.2:p.(Arg431Trp)	NC_000015.9:g.91489935C>T	VUS	1 lab	20ec31dd76
4:107183323 TBCK G>A	4	107183323	107183323	G	A	TBCK	c.313C>T	NM_001163435.3	NP_001156907.2:p.(Gln105Ter)	NC_000004.11:g.107183323G>A	(Likely) pathogenic	1 lab	20ede58c2a
2:109399088 RANBP2 C>G	2	109399088	109399088	C	G	RANBP2	c.9139C>G	NM_006267.5	NP_006258.3:p.(Leu3047Val)	NC_000002.11:g.109399088C>G	(Likely) benign	1 lab	20ee6dea1e
13:32912466 BRCA2 C>CTGCT	13	32912466	32912470	C	CTGCT	BRCA2	c.3975_3978dup	NM_000059.4	NP_000050.3:p.(Ala1327CysfsTer4)	NC_000013.10:g.32912467_32912470dup	(Likely) pathogenic	1 lab	20f23e5de9
3:52549487 STAB1 C>T	3	52549487	52549487	C	T	STAB1	c.3913C>T	NM_015136.3	NP_055951.2:p.(Arg1305Trp)	NC_000003.11:g.52549487C>T	(Likely) benign	1 lab	20f40cdd43
7:4116656 SDK1 G>A	7	4116656	4116656	G	A	SDK1	c.3037G>A	NM_152744.4	NP_689957.3:p.(Gly1013Ser)	NC_000007.13:g.4116656G>A	(Likely) benign	1 lab	20f4c3e56a
17:78064169 CCDC40 GAACACAGGACACACACAGCACGTGCATGAAC>G	17	78064169	78064248	GAACACAGGACACACACAGCACGTGCATGAAC	G	CCDC40	c.2832+535_2832+565del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064218_78064248del	VUS	1 lab	20f4c80701
22:45972919 FBLN1 G>A	22	45972919	45972919	G	A	FBLN1	c.1903G>A	NM_006486.3	NP_006477.3:p.(Asp635Asn)	NC_000022.10:g.45972919G>A	VUS	1 lab	20f5013e93
16:88497557 ZNF469 G>A	16	88497557	88497557	G	A	ZNF469	c.3679G>A	NM_001367624.2	NP_001354553.1:p.(Glu1227Lys)	NC_000016.9:g.88497557G>A	(Likely) benign	1 lab	20f5a09acb
1:151381027 POGZ G>A	1	151381027	151381027	G	A	POGZ	c.2092C>T	NM_015100.4	NP_055915.2:p.(Arg698Ter)	NC_000001.10:g.151381027G>A	(Likely) pathogenic	1 lab	20f5fc74db
17:7751888 KDM6B C>G	17	7751888	7751888	C	G	KDM6B	c.2282C>G	NM_001348716.2	NP_001335645.1:p.(Thr761Ser)	NC_000017.10:g.7751888C>G	(Likely) benign	1 lab	20f6ea3df8
11:102094453 YAP1 C>T	11	102094453	102094453	C	T	YAP1	c.1133C>T	NM_001130145.3	NP_001123617.1:p.(Thr378Met)	NC_000011.9:g.102094453C>T	(Likely) benign	1 lab	20f873c086
17:8052096 PER1 G>A	17	8052096	8052096	G	A	PER1	c.914C>T	NM_002616.3	NP_002607.2:p.(Pro305Leu)	NC_000017.10:g.8052096G>A	(Likely) benign	1 lab	20f8d0ba95
19:5700904 LONP1 T>C	19	5700904	5700904	T	C	LONP1	c.1402A>G	NM_004793.4	NP_004784.2:p.(Ile468Val)	NC_000019.9:g.5700904T>C	(Likely) benign	1 lab	20f8fdc5bf
12:105151192 CHST11 G>C	12	105151192	105151192	G	C	CHST11	c.670G>C	NM_018413.6	NP_060883.1:p.(Ala224Pro)	NC_000012.11:g.105151192G>C	(Likely) benign	1 lab	20fb8728ab
13:77672806 MYCBP2 G>A	13	77672806	77672806	G	A	MYCBP2	c.8483C>T	NM_015057.5	NP_055872.4:p.(Pro2828Leu)	NC_000013.10:g.77672806G>A	VUS	1 lab	20fc54359b
13:95231002 TGDS A>G	13	95231002	95231002	A	G	TGDS	c.641T>C	NM_014305.4	NP_055120.1:p.(Leu214Pro)	NC_000013.10:g.95231002A>G	VUS	1 lab	20fe057178
3:37357030 GOLGA4 C>T	3	37357030	37357030	C	T	GOLGA4	c.1354C>T	NM_002078.5	NP_002069.2:p.(Arg452Cys)	NC_000003.11:g.37357030C>T	VUS	1 lab	21009e392e
X:106083435 TBC1D8B C>A	X	106083435	106083435	C	A	TBC1D8B	c.1504+7C>A	NM_017752.3	NP_060222.2:p.?	NC_000023.10:g.106083435C>A	(Likely) benign	1 lab	2100e9aec0
12:49433714 KMT2D C>T	12	49433714	49433714	C	T	KMT2D	c.7839G>A	NM_003482.3	NP_003473.3:p.(Pro2613=)	NC_000012.11:g.49433714C>T	(Likely) benign	1 lab	1b9ea16471
6:87955320 ZNF292 A>G	6	87955320	87955320	A	G	ZNF292	c.978A>G	NM_015021.3	NP_055836.1:p.(Thr326=)	NC_000006.11:g.87955320A>G	(Likely) benign	1 lab	2101fe74b4
2:228884872 SPHKAP T>C	2	228884872	228884872	T	C	SPHKAP	c.698A>G	NM_001142644.2	NP_001136116.1:p.(Asp233Gly)	NC_000002.11:g.228884872T>C	VUS	1 lab	2102c0f403
6:7230559 RREB1 G>A	6	7230559	7230559	G	A	RREB1	c.2227G>A	NM_001003699.4	NP_001003699.1:p.(Glu743Lys)	NC_000006.11:g.7230559G>A	(Likely) benign	1 lab	2103dc9b39
11:17408527 KCNJ11 C>T	11	17408527	17408527	C	T	KCNJ11	c.1112G>A	NM_000525.4	NP_000516.3:p.(Arg371His)	NC_000011.9:g.17408527C>T	VUS	1 lab	2105426aea
1:119441678 TBX15 C>T	1	119441678	119441678	C	T	TBX15	c.997G>A	NM_001330677.2	NP_001317606.1:p.(Asp333Asn)	NC_000001.10:g.119441678C>T	VUS	1 lab	2106bb1666
17:78083769 GAA C>G	17	78083769	78083769	C	G	GAA	c.1352C>G	NM_000152.5	NP_000143.2:p.(Pro451Arg)	NC_000017.10:g.78083769C>G	(Likely) benign	1 lab	21189da5bb
9:123290098 CDK5RAP2 A>T	9	123290098	123290098	A	T	CDK5RAP2	c.985T>A	NM_018249.6	NP_060719.4:p.(Ser329Thr)	NC_000009.11:g.123290098A>T	(Likely) benign	1 lab	2106f4786c
16:2158353 PKD1 C>T	16	2158353	2158353	C	T	PKD1	c.6815G>A	NM_001009944.3	NP_001009944.3:p.(Arg2272Gln)	NC_000016.9:g.2158353C>T	VUS	1 lab	21083089d5
1:22163446 HSPG2 C>G	1	22163446	22163446	C	G	HSPG2	c.10204G>C	NM_005529.7	NP_005520.4:p.(Val3402Leu)	NC_000001.10:g.22163446C>G	(Likely) benign	1 lab	21087417df
19:15648783 CYP4F22 G>T	19	15648783	15648783	G	T	CYP4F22	c.650G>T	NM_173483.4	NP_775754.2:p.(Ser217Ile)	NC_000019.9:g.15648783G>T	VUS	1 lab	21093726ed
1:110607238 ALX3 G>A	1	110607238	110607238	G	A	ALX3	c.565C>T	NM_006492.3	NP_006483.2:p.(Arg189Cys)	NC_000001.10:g.110607238G>A	VUS	1 lab	211c043ad2
11:113102000 NCAM1 G>GGCT	11	113102000	113102020	G	GGCT	NCAM1	c.1090-349_1090-347dup	NM_181351.5	NP_851996.2:p.?	NC_000011.9:g.113102018_113102020dup	(Likely) benign	1 lab	2109b55c99
19:11314749 DOCK6 TGACTCAC>T	19	11314749	11314756	TGACTCAC	T	DOCK6	c.5235+1_5235+7del	NM_020812.4	NP_065863.2:p.?	NC_000019.9:g.11314750_11314756del	VUS	1 lab	210ce3285f
19:49344521 PLEKHA4 C>T	19	49344521	49344521	C	T	PLEKHA4	c.1790G>A	NM_020904.3	NP_065955.2:p.(Arg597Gln)	NC_000019.9:g.49344521C>T	(Likely) benign	1 lab	2110e39e39
8:61734647 CHD7 A>T	8	61734647	61734647	A	T	CHD7	c.2900A>T	NM_017780.4	NP_060250.2:p.(Lys967Ile)	NC_000008.10:g.61734647A>T	VUS	1 lab	21127054c7
14:51404528 PYGL A>G	14	51404528	51404528	A	G	PYGL	c.271T>C	NM_002863.5	NP_002854.3:p.(Tyr91His)	NC_000014.8:g.51404528A>G	VUS	1 lab	211329368a
13:114462246 TMEM255B C>T	13	114462246	114462246	C	T	TMEM255B	c.4C>T	NM_182614.4	NP_872420.1:p.(Gln2Ter)	NC_000013.10:g.114462246C>T	VUS	1 lab	2113c21c03
8:133913783 TG C>G	8	133913783	133913783	C	G	TG	c.3619C>G	NM_003235.5	NP_003226.4:p.(Gln1207Glu)	NC_000008.10:g.133913783C>G	VUS	1 lab	211632f22b
12:49439754 KMT2D T>C	12	49439754	49439754	T	C	KMT2D	c.4694-4A>G	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49439754T>C	(Likely) benign	1 lab	21171b73db
8:88249192 CNBD1 G>C	8	88249192	88249192	G	C	CNBD1	c.623G>C	NM_173538.3	NP_775809.1:p.(Arg208Pro)	NC_000008.10:g.88249192G>C	(Likely) benign	1 lab	2117402ef7
17:41738517 MEOX1 C>A	17	41738517	41738517	C	A	MEOX1	c.386G>T	NM_004527.4	NP_004518.1:p.(Gly129Val)	NC_000017.10:g.41738517C>A	VUS	1 lab	21174d5149
4:114275353 ANK2 C>T	4	114275353	114275353	C	T	ANK2	c.5579C>T	NM_001148.6	NP_001139.3:p.(Ser1860Phe)	NC_000004.11:g.114275353C>T	VUS	1 lab	211888e45a
17:73568084 LLGL2 C>T	17	73568084	73568084	C	T	LLGL2	c.2399C>T	NM_001031803.2	NP_001026973.1:p.(Ser800Leu)	NC_000017.10:g.73568084C>T	(Likely) benign	1 lab	211a07108c
9:4118690 GLIS3 T>C	9	4118690	4118690	T	C	GLIS3	c.788A>G	NM_001042413.2	NP_001035878.1:p.(Asn263Ser)	NC_000009.11:g.4118690T>C	(Likely) benign	1 lab	211b4b3ecc
X:106185370 MORC4 G>A	X	106185370	106185370	G	A	MORC4	c.2458C>T	NM_024657.5	NP_078933.3:p.(Gln820Ter)	NC_000023.10:g.106185370G>A	VUS	1 lab	211c14bb08
13:103249490 TPP2 T>G	13	103249490	103249490	T	G	TPP2	c.102T>G	NM_001330588.2	NP_001317517.1:p.(Asp34Glu)	NC_000013.10:g.103249490T>G	VUS	1 lab	211c50936b
9:125861041 RABGAP1 T>TA	9	125861041	125861049	T	TA	RABGAP1	c.2789dup	NM_012197.4	NP_036329.3:p.(Asn930LysfsTer7)	NC_000009.11:g.125861049dup	(Likely) pathogenic	1 lab	211cc060ea
14:99641263 BCL11B T>TCGTCGTCGCCCGCGTCCC	14	99641263	99641283	T	TCGTCGTCGCCCGCGTCCC	BCL11B	c.1892_1909dup	NM_138576.4	NP_612808.1:p.(Gly631_Asp636dup)	NC_000014.8:g.99641266_99641283dup	VUS	1 lab	211d7c6cce
8:70594420 SLCO5A1 C>A	8	70594420	70594420	C	A	SLCO5A1	c.1781G>T	NM_030958.3	NP_112220.2:p.(Gly594Val)	NC_000008.10:g.70594420C>A	(Likely) benign	1 lab	2120773aa2
9:98212200 PTCH1 T>G	9	98212200	98212200	T	G	PTCH1	c.3472A>C	NM_000264.5	NP_000255.2:p.(Ile1158Leu)	NC_000009.11:g.98212200T>G	(Likely) benign	1 lab	2120acfdbf
2:73799975 ALMS1 A>T	2	73799975	73799975	A	T	ALMS1	c.10971A>T	NM_001378454.1	NP_001365383.1:p.(Glu3657Asp)	NC_000002.11:g.73799975A>T	(Likely) benign	1 lab	21214267b5
2:70528037 TIMCC C>T	2	70528037	70528037	C	T	TIMCC	c.484G>A	NM_001329752.2	NP_001316681.1:p.(Glu162Lys)	NC_000002.11:g.70528037C>T	(Likely) benign	1 lab	2121c041ae
7:44155403 POLD2 C>T	7	44155403	44155403	C	T	POLD2	c.1109G>A	NM_006230.4	NP_006221.3:p.(Arg370Gln)	NC_000007.13:g.44155403C>T	VUS	1 lab	21220a1b78
1:247608063 NLRP3 T>C	1	247608063	247608063	T	C	NLRP3	c.2945T>C	NM_001243133.2	NP_001230062.1:p.(Leu982Pro)	NC_000001.10:g.247608063T>C	(Likely) benign	1 lab	2122718bbf
13:102480248 FGF14 T>C	13	102480248	102480248	T	C	FGF14	c.408+40827A>G	NM_004115.4	NP_004106.1:p.?	NC_000013.10:g.102480248T>C	VUS	1 lab	21244f3b71
20:47630201 ARFGEF2 T>C	20	47630201	47630201	T	C	ARFGEF2	c.4019T>C	NM_006420.3	NP_006411.2:p.(Ile1340Thr)	NC_000020.10:g.47630201T>C	VUS	1 lab	2125c92306
8:107751693 OXR1 C>T	8	107751693	107751693	C	T	OXR1	c.2045C>T	NM_001198533.2	NP_001185462.1:p.(Thr682Ile)	NC_000008.10:g.107751693C>T	VUS	1 lab	212696493a
3:111286495 CD96 G>T	3	111286495	111286495	G	T	CD96	c.543+1G>T	NM_005816.5	NP_005807.1:p.?	NC_000003.11:g.111286495G>T	VUS	1 lab	2128e2e6af
7:104719376 KMT2E G>A	7	104719376	104719376	G	A	KMT2E	c.1214G>A	NM_182931.3	NP_891847.1:p.(Arg405Gln)	NC_000007.13:g.104719376G>A	VUS	1 lab	212a59c995
17:1174309 BHLHA9 G>GC	17	1174309	1174315	G	GC	BHLHA9	c.458dup	NM_001164405.2	NP_001157877.1:p.(Pro154AlafsTer119)	NC_000017.10:g.1174315dup	VUS	1 lab	212aafb230
1:5951002 NPHP4 C>T	1	5951002	5951002	C	T	NPHP4	c.2230G>A	NM_015102.5	NP_055917.1:p.(Val744Met)	NC_000001.10:g.5951002C>T	VUS	1 lab	212ae59215
17:40716017 COASY C>T	17	40716017	40716017	C	T	COASY	c.739C>T	NM_025233.7	NP_079509.5:p.(Arg247Cys)	NC_000017.10:g.40716017C>T	VUS	1 lab	212f289ca6
16:2129397 TSC2 C>G	16	2129397	2129397	C	G	TSC2	c.3252C>G	NM_000548.5	NP_000539.2:p.(Asp1084Glu)	NC_000016.9:g.2129397C>G	VUS	1 lab	2130aaae71
3:58090811 FLNB T>C	3	58090811	58090811	T	C	FLNB	c.1615T>C	NM_001457.4	NP_001448.2:p.(Phe539Leu)	NC_000003.11:g.58090811T>C	VUS	1 lab	21316dbeae
5:149510171 PDGFRB G>C	5	149510171	149510171	G	C	PDGFRB	c.1298C>G	NM_002609.4	NP_002600.1:p.(Thr433Arg)	NC_000005.9:g.149510171G>C	(Likely) benign	1 lab	213344029a
9:139996099 MAN1B1 G>A	9	139996099	139996099	G	A	MAN1B1	c.1229G>A	NM_016219.5	NP_057303.2:p.(Arg410His)	NC_000009.11:g.139996099G>A	VUS	1 lab	2135fd2f42
15:62234253 VPS13C T>C	15	62234253	62234253	T	C	VPS13C	c.5162A>G	NM_020821.3	NP_065872.1:p.(Asn1721Ser)	NC_000015.9:g.62234253T>C	VUS	1 lab	21365c27c9
X:135431039 ADGRG4 C>T	X	135431039	135431039	C	T	ADGRG4	c.5174C>T	NM_153834.4	NP_722576.3:p.(Ser1725Phe)	NC_000023.10:g.135431039C>T	(Likely) benign	1 lab	2136a87d71
19:7150563 INSR G>A	19	7150563	7150563	G	A	INSR	c.2232-20C>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7150563G>A	(Likely) benign	1 lab	213788d000
21:27012154 JAM2 C>A	21	27012154	27012154	C	A	JAM2	c.21C>A	NM_021219.4	NP_067042.1:p.(His7Gln)	NC_000021.8:g.27012154C>A	(Likely) benign	1 lab	2137a10dd7
6:30888503 VARS2 G>T	6	30888503	30888503	G	T	VARS2	c.1456G>T	NM_020442.6	NP_065175.4:p.(Glu486Ter)	NC_000006.11:g.30888503G>T	(Likely) pathogenic	1 lab	2137f64d87
1:156105766 LMNA G>C	1	156105766	156105766	G	C	LMNA	c.1011G>C	NM_170707.4	NP_733821.1:p.(Leu337=)	NC_000001.10:g.156105766G>C	(Likely) benign	1 lab	21384d143a
13:77745775 MYCBP2 G>A	13	77745775	77745775	G	A	MYCBP2	c.5652-6C>T	NM_015057.5	NP_055872.4:p.?	NC_000013.10:g.77745775G>A	(Likely) benign	1 lab	213cd4fb4c
22:26273974 MYO18B C>T	22	26273974	26273974	C	T	MYO18B	c.4273C>T	NM_032608.7	NP_115997.5:p.(Arg1425Trp)	NC_000022.10:g.26273974C>T	VUS	1 lab	2141e782c8
16:3828048 CREBBP G>C	16	3828048	3828048	G	C	CREBBP	c.2077C>G	NM_004380.3	NP_004371.2:p.(Pro693Ala)	NC_000016.9:g.3828048G>C	VUS	1 lab	2141f6c8c4
16:2147228 PKD1 G>A	16	2147228	2147228	G	A	PKD1	c.10420C>T	NM_001009944.2	NP_001009944.2:p.(Gln3474Ter)	NC_000016.9:g.2147228G>A	(Likely) pathogenic	1 lab	1b9f078a64
19:54778581 LILRB2 GTT>G	19	54778581	54778583	GTT	G	LILRB2	c.1748_1749del	NM_001080978.4	NP_001074447.2:p.(Glu583AlafsTer4)	NC_000019.9:g.54778582_54778583del	VUS	1 lab	21423628b7
5:140235874 PCDHA1 G>A	5	140235874	140235874	G	A	PCDHA1	c.2394+67605G>A	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140235874G>A	VUS	1 lab	2142fa74fa
3:9486848 SETD5 T>C	3	9486848	9486848	T	C	SETD5	c.1304T>C	NM_001080517.3	NP_001073986.1:p.(Ile435Thr)	NC_000003.11:g.9486848T>C	(Likely) benign	1 lab	214454b1f7
5:42719098 GHR G>A	5	42719098	42719098	G	A	GHR	c.1489G>A	NM_000163.5	NP_000154.1:p.(Gly497Ser)	NC_000005.9:g.42719098G>A	VUS	1 lab	214626e109
8:101196952 SPAG1 A>G	8	101196952	101196952	A	G	SPAG1	c.692A>G	NM_003114.5	NP_003105.2:p.(Tyr231Cys)	NC_000008.10:g.101196952A>G	VUS	1 lab	2146f1b637
10:45406961 TMEM72 A>G	10	45406961	45406961	A	G	TMEM72	c.1A>G	NM_001123376.3	NP_001116848.1:p.(Met1?)	NC_000010.10:g.45406961A>G	(Likely) pathogenic	1 lab	1ba1f57fb6
3:126747015 PLXNA1 C>T	3	126747015	126747015	C	T	PLXNA1	c.4510-9C>T	NM_032242.4	NP_115618.3:p.?	NC_000003.11:g.126747015C>T	(Likely) benign	1 lab	21481a6d8a
5:32784997 NPR3 C>T	5	32784997	32784997	C	T	NPR3	c.1514+8C>T	NM_001204375.2	NP_001191304.1:p.?	NC_000005.9:g.32784997C>T	(Likely) benign	1 lab	214aa92e16
1:89655869 GBP4 C>G	1	89655869	89655869	C	G	GBP4	c.1049G>C	NM_052941.5	NP_443173.2:p.(Ser350Thr)	NC_000001.10:g.89655869C>G	(Likely) benign	1 lab	214b61838f
20:20278870 CFAP61 C>T	20	20278870	20278870	C	T	CFAP61	c.3262C>T	NM_015585.4	NP_056400.3:p.(Arg1088Ter)	NC_000020.10:g.20278870C>T	VUS	1 lab	214d4310d1
17:40362208 STAT5B A>G	17	40362208	40362208	A	G	STAT5B	c.1887T>C	NM_012448.4	NP_036580.2:p.(Ile629=)	NC_000017.10:g.40362208A>G	VUS	1 lab	214dcc17b2
X:134992218 SAGE1 G>C	X	134992218	134992218	G	C	SAGE1	c.1753G>C	NM_001381902.1	NP_001368831.1:p.(Glu585Gln)	NC_000023.10:g.134992218G>C	VUS	1 lab	214efdc3b4
2:242695322 D2HGDH A>G	2	242695322	242695322	A	G	D2HGDH	c.1199A>G	NM_152783.5	NP_689996.4:p.(Tyr400Cys)	NC_000002.11:g.242695322A>G	VUS	1 lab	214fb400d0
17:40384053 STAT5B C>A	17	40384053	40384053	C	A	STAT5B	c.93G>T	NM_012448.4	NP_036580.2:p.(Arg31=)	NC_000017.10:g.40384053C>A	(Likely) benign	1 lab	2150b59c63
21:47809117 PCNT C>T	21	47809117	47809117	C	T	PCNT	c.3611C>T	NM_006031.6	NP_006022.3:p.(Pro1204Leu)	NC_000021.8:g.47809117C>T	(Likely) benign	1 lab	2150bb76c2
X:132161771 USP26 A>T	X	132161771	132161771	A	T	USP26	c.478T>A	NM_031907.3	NP_114113.1:p.(Leu160Met)	NC_000023.10:g.132161771A>T	VUS	1 lab	216825a8b9
19:40317629 DYRK1B TGGCAGGGAGGGGGTGGGAGGGGGGGCAAGAGAGTGGCCGTCAGTGGGCAGGAGG>T	19	40317629	40317692	TGGCAGGGAGGGGGTGGGAGGGGGGGCAAGAGAGTGGCCGTCAGTGGGCAGGAGG	T	DYRK1B	c.1096-56_1096-3del	NM_004714.3	NP_004705.1:p.?	NC_000019.9:g.40317639_40317692del	VUS	1 lab	2151377d4b
16:89350582 ANKRD11 CTT>C	16	89350582	89350586	CTT	C	ANKRD11	c.2366_2367del	NM_013275.6	NP_037407.4:p.(Lys789ArgfsTer7)	NC_000016.9:g.89350585_89350586del	(Likely) pathogenic	1 lab	2152eb0c56
4:170634292 CLCN3 A>G	4	170634292	170634292	A	G	CLCN3	c.2212A>G	NM_001829.4	NP_001820.2:p.(Thr738Ala)	NC_000004.11:g.170634292A>G	VUS	1 lab	215409fdd3
14:92336725 FBLN5 G>A	14	92336725	92336725	G	A	FBLN5	c.1190C>T	NM_006329.4	NP_006320.2:p.(Thr397Met)	NC_000014.8:g.92336725G>A	VUS	1 lab	2154919dac
19:50099496 PRR12 G>A	19	50099496	50099496	G	A	PRR12	c.1904G>A	NM_020719.3	NP_065770.1:p.(Arg635His)	NC_000019.9:g.50099496G>A	(Likely) benign	1 lab	215512e3cd
X:107978818 IRS4 C>A	X	107978818	107978818	C	A	IRS4	c.757G>T	NM_001379150.1	NP_001366079.1:p.(Val253Leu)	NC_000023.10:g.107978818C>A	VUS	1 lab	21560c9a7a
X:153133341 L1CAM A>T	X	153133341	153133341	A	T	L1CAM	c.1853T>A	NM_001278116.2	NP_001265045.1:p.(Leu618Gln)	NC_000023.10:g.153133341A>T	VUS	1 lab	215a6b97cf
14:23885262 MYH7 A>G	14	23885262	23885262	A	G	MYH7	c.4904T>C	NM_000257.4	NP_000248.2:p.(Met1635Thr)	NC_000014.8:g.23885262A>G	VUS	1 lab	215b6ececc
9:27565579 C9orf72 C>A	9	27565579	27565579	C	A	C9orf72	c.454G>T	NM_018325.5	NP_060795.1:p.(Glu152Ter)	NC_000009.11:g.27565579C>A	VUS	1 lab	215d7e5b8d
2:149227842 MBD5 A>G	2	149227842	149227842	A	G	MBD5	c.2330A>G	NM_018328.5	NP_060798.2:p.(Asn777Ser)	NC_000002.11:g.149227842A>G	VUS	1 lab	1b9d93cf6b
7:140549970 BRAF T>C	7	140549970	140549970	T	C	BRAF	c.181A>G	NM_004333.6	NP_004324.2:p.(Ile61Val)	NC_000007.13:g.140549970T>C	VUS	1 lab	216618dcd2
19:45851210 KLC3 G>A	19	45851210	45851210	G	A	KLC3	c.571G>A	NM_177417.3	NP_803136.2:p.(Ala191Thr)	NC_000019.9:g.45851210G>A	(Likely) benign	1 lab	216885c232
5:177419834 PROP1 G>A	5	177419834	177419834	G	A	PROP1	c.557C>T	NM_006261.5	NP_006252.4:p.(Ala186Val)	NC_000005.9:g.177419834G>A	(Likely) benign	1 lab	216905b511
X:152960321 SLC6A8 A>G	X	152960321	152960321	A	G	SLC6A8	c.1744A>G	NM_005629.4	NP_005620.1:p.(Arg582Gly)	NC_000023.10:g.152960321A>G	VUS	1 lab	216a0f816d
4:126411115 FAT4 G>A	4	126411115	126411115	G	A	FAT4	c.13144G>A	NM_001291303.3	NP_001278232.1:p.(Gly4382Arg)	NC_000004.11:g.126411115G>A	VUS	1 lab	216b53b881
1:16355246 CLCNKA C>T	1	16355246	16355246	C	T	CLCNKA	c.969-10C>T	NM_004070.4	NP_004061.3:p.?	NC_000001.10:g.16355246C>T	(Likely) benign	1 lab	216db65834
5:130500828 HINT1 C>A	5	130500828	130500828	C	A	HINT1	c.71G>T	NM_005340.7	NP_005331.1:p.(Arg24Leu)	NC_000005.9:g.130500828C>A	VUS	1 lab	216fb0c153
8:90990529 NBN C>T	8	90990529	90990529	C	T	NBN	c.503G>A	NM_002485.5	NP_002476.2:p.(Gly168Glu)	NC_000008.10:g.90990529C>T	VUS	1 lab	217039a9f7
5:177034493 B4GALT7 G>C	5	177034493	177034493	G	C	B4GALT7	c.604G>C	NM_007255.3	NP_009186.1:p.(Gly202Arg)	NC_000005.9:g.177034493G>C	VUS	1 lab	2171b6a1b3
8:98289821 TSPYL5 G>T	8	98289821	98289821	G	T	TSPYL5	c.252C>A	NM_033512.3	NP_277047.2:p.(Asp84Glu)	NC_000008.10:g.98289821G>T	VUS	1 lab	2172de19dc
2:179440571 TTN C>A	2	179440571	179440571	C	A	TTN	c.70288G>T	NM_001267550.1	NP_001254479.1:p.(Val23430Phe)	NC_000002.11:g.179440571C>A	VUS	1 lab	1ba5b17162
1:145303973 NBPF10 C>T	1	145303973	145303973	C	T	NBPF10	c.1370C>T	NM_001302371.3	NP_001289300.1:p.(Ser457Phe)	NC_000001.10:g.145303973C>T	(Likely) benign	1 lab	217311baa6
12:31249855 DDX11 C>T	12	31249855	31249855	C	T	DDX11	c.1693C>T	NM_030653.4	NP_085911.2:p.(His565Tyr)	NC_000012.11:g.31249855C>T	(Likely) benign	1 lab	2174184658
15:89876827 POLGARF T>TTGC	15	89876827	89876860	T	TTGC	POLGARF	c.211_213dup	NM_001430120.1	NP_001417049.1:p.(Ala71dup)	NC_000015.9:g.89876858_89876860dup	VUS	1 lab	2174925372
16:30990714 SETD1A G>A	16	30990714	30990714	G	A	SETD1A	c.3607G>A	NM_014712.3	NP_055527.1:p.(Val1203Met)	NC_000016.9:g.30990714G>A	VUS	1 lab	21755e65c4
7:152027756 KMT2C T>G	7	152027756	152027756	T	G	KMT2C	c.319A>C	NM_170606.3	NP_733751.2:p.(Thr107Pro)	NC_000007.13:g.152027756T>G	(Likely) benign	1 lab	2175b30c39
12:7079405 PHB2 C>T	12	7079405	7079405	C	T	PHB2	c.166G>A	NM_001144831.2	NP_001138303.1:p.(Gly56Ser)	NC_000012.11:g.7079405C>T	VUS	1 lab	2176c6cd40
22:19753517 TBX1 C>A	22	19753517	19753517	C	A	TBX1	c.1028C>A	NM_001379200.1	NP_001366129.1:p.(Thr343Lys)	NC_000022.10:g.19753517C>A	(Likely) benign	1 lab	21785ab03d
X:154509266 CLIC2 T>C	X	154509266	154509266	T	C	CLIC2	c.385A>G	NM_001289.6	NP_001280.3:p.(Lys129Glu)	NC_000023.10:g.154509266T>C	VUS	1 lab	21792490c9
12:18435407 PIK3C2G G>A	12	18435407	18435407	G	A	PIK3C2G	c.392G>A	NM_001288772.2	NP_001275701.1:p.(Gly131Glu)	NC_000012.11:g.18435407G>A	(Likely) benign	1 lab	21798a206a
19:11618629 ECSIT C>T	19	11618629	11618629	C	T	ECSIT	c.833G>A	NM_016581.5	NP_057665.2:p.(Arg278His)	NC_000019.9:g.11618629C>T	VUS	1 lab	2179a4cf37
16:89262685 SLC22A31 C>A	16	89262685	89262685	C	A	SLC22A31	c.1063G>T	NM_001384763.1	NP_001371692.1:p.(Ala355Ser)	NC_000016.9:g.89262685C>A	VUS	1 lab	217a1d1cc9
X:19482454 MAP3K15 C>T	X	19482454	19482454	C	T	MAP3K15	c.596G>A	NM_001001671.4	NP_001001671.3:p.(Ser199Asn)	NC_000023.10:g.19482454C>T	(Likely) benign	1 lab	217a8c78ef
12:124241407 ATP6V0A2 G>A	12	124241407	124241407	G	A	ATP6V0A2	c.2339G>A	NM_012463.4	NP_036595.2:p.(Arg780His)	NC_000012.11:g.124241407G>A	VUS	1 lab	217c50f00b
2:61520622 USP34 T>C	2	61520622	61520622	T	C	USP34	c.4525A>G	NM_014709.4	NP_055524.3:p.(Lys1509Glu)	NC_000002.11:g.61520622T>C	VUS	1 lab	217d106d45
8:27327345 CHRNA2 G>A	8	27327345	27327345	G	A	CHRNA2	c.227C>T	NM_000742.4	NP_000733.2:p.(Pro76Leu)	NC_000008.10:g.27327345G>A	VUS	1 lab	217d5735f7
12:52174353 SCN8A T>C	12	52174353	52174353	T	C	SCN8A	c.3820-80T>C	NM_014191.4	NP_055006.1:p.?	NC_000012.11:g.52174353T>C	(Likely) benign	1 lab	1ba633ae36
5:133537703 PPP2CA G>A	5	133537703	133537703	G	A	PPP2CA	c.322C>T	NM_002715.4	NP_002706.1:p.(Arg108Cys)	NC_000005.9:g.133537703G>A	VUS	1 lab	217e1aa98f
9:35800438 NPR2 T>C	9	35800438	35800438	T	C	NPR2	c.1176T>C	NM_003995.4	NP_003986.2:p.(Phe392=)	NC_000009.11:g.35800438T>C	(Likely) benign	1 lab	21817ae7ad
14:91747827 CCDC88C A>G	14	91747827	91747827	A	G	CCDC88C	c.4673T>C	NM_001080414.4	NP_001073883.2:p.(Phe1558Ser)	NC_000014.8:g.91747827A>G	VUS	1 lab	218272f06d
12:80707338 OTOGL C>T	12	80707338	80707338	C	T	OTOGL	c.3533C>T	NM_001378609.3	NP_001365538.2:p.(Thr1178Ile)	NC_000012.11:g.80707338C>T	VUS	1 lab	21856ad331
11:6640029 TPP1 C>T	11	6640029	6640029	C	T	TPP1	c.207G>A	NM_000391.4	NP_000382.3:p.(Ser69=)	NC_000011.9:g.6640029C>T	(Likely) benign	1 lab	218584c6fc
2:145275165 ZEB2 T>G	2	145275165	145275165	T	G	ZEB2	c.-69-179A>C	NM_014795.4	NP_055610.1:p.?	NC_000002.11:g.145275165T>G	(Likely) benign	1 lab	21864d4316
2:120718494 PTPN4 G>A	2	120718494	120718494	G	A	PTPN4	c.2245G>A	NM_002830.4	NP_002821.1:p.(Val749Ile)	NC_000002.11:g.120718494G>A	VUS	1 lab	2186993fbf
16:30970038 SETD1A T>C	16	30970038	30970038	T	C	SETD1A	c.-15T>C	NM_014712.3	NP_055527.1:p.?	NC_000016.9:g.30970038T>C	(Likely) benign	1 lab	2186c9e6fb
11:64427912 NRXN2 T>A	11	64427912	64427912	T	A	NRXN2	c.2281A>T	NM_015080.4	NP_055895.1:p.(Met761Leu)	NC_000011.9:g.64427912T>A	(Likely) benign	1 lab	21870474fe
17:43364638 MAP3K14 C>T	17	43364638	43364638	C	T	MAP3K14	c.419G>A	NM_003954.5	NP_003945.2:p.(Ser140Asn)	NC_000017.10:g.43364638C>T	(Likely) benign	1 lab	21875e17c5
7:128315901 GARIN1A T>A	7	128315901	128315901	T	A	GARIN1A	c.326T>A	NM_001128926.4	NP_001122398.1:p.(Ile109Asn)	NC_000007.13:g.128315901T>A	(Likely) benign	1 lab	21876fed08
X:154157704 F8 A>G	X	154157704	154157704	A	G	F8	c.4361T>C	NM_000132.4	NP_000123.1:p.(Leu1454Ser)	NC_000023.10:g.154157704A>G	VUS	1 lab	2187d46d5b
14:23872568 MYH6 G>A	14	23872568	23872568	G	A	MYH6	c.887C>T	NM_002471.4	NP_002462.2:p.(Pro296Leu)	NC_000014.8:g.23872568G>A	VUS	1 lab	21880bf40c
X:39934105 BCOR G>A	X	39934105	39934105	G	A	BCOR	c.494C>T	NM_001123385.2	NP_001116857.1:p.(Ala165Val)	NC_000023.10:g.39934105G>A	(Likely) benign	1 lab	21884d1a24
3:13896284 WNT7A C>T	3	13896284	13896284	C	T	WNT7A	c.315G>A	NM_004625.4	NP_004616.2:p.(Ala105=)	NC_000003.11:g.13896284C>T	(Likely) benign	1 lab	1bab1bf4cb
7:154680982 DPP6 A>G	7	154680982	154680982	A	G	DPP6	c.2305A>G	NM_130797.4	NP_570629.2:p.(Met769Val)	NC_000007.13:g.154680982A>G	(Likely) benign	1 lab	2189a55f40
8:145057377 PARP10 C>A	8	145057377	145057377	C	A	PARP10	c.2380G>T	NM_032789.5	NP_116178.2:p.(Asp794Tyr)	NC_000008.10:g.145057377C>A	VUS	1 lab	218a2453c4
13:41373309 SLC25A15 G>A	13	41373309	41373309	G	A	SLC25A15	c.172G>A	NM_014252.4	NP_055067.1:p.(Val58Met)	NC_000013.10:g.41373309G>A	VUS	1 lab	218a335364
2:113514159 CKAP2L T>A	2	113514159	113514159	T	A	CKAP2L	c.789A>T	NM_152515.5	NP_689728.3:p.(Arg263Ser)	NC_000002.11:g.113514159T>A	(Likely) benign	1 lab	218a649529
2:113305152 POLR1B C>T	2	113305152	113305152	C	T	POLR1B	c.492+8C>T	NM_019014.6	NP_061887.2:p.?	NC_000002.11:g.113305152C>T	(Likely) benign	1 lab	218e8ec6d1
16:2158944 PKD1 C>T	16	2158944	2158944	C	T	PKD1	c.6224G>A	NM_001009944.3	NP_001009944.3:p.(Arg2075His)	NC_000016.9:g.2158944C>T	VUS	1 lab	218fea462d
X:36197538 CFAP47 G>A	X	36197538	36197538	G	A	CFAP47	c.6103G>A	NM_001304548.2	NP_001291477.1:p.(Asp2035Asn)	NC_000023.10:g.36197538G>A	(Likely) benign	1 lab	219127b165
14:95578517 DICER1 T>C	14	95578517	95578517	T	C	DICER1	c.2108A>G	NM_177438.3	NP_803187.1:p.(His703Arg)	NC_000014.8:g.95578517T>C	VUS	1 lab	219322b230
20:33999738 UQCC1 C>T	20	33999738	33999738	C	T	UQCC1	c.24+5G>A	NM_018244.5	NP_060714.3:p.?	NC_000020.10:g.33999738C>T	VUS	1 lab	1b9dfbc45f
13:101890218 NALCN C>T	13	101890218	101890218	C	T	NALCN	c.1322G>A	NM_052867.4	NP_443099.1:p.(Gly441Glu)	NC_000013.10:g.101890218C>T	VUS	1 lab	2195c57d8d
16:3025542 PKMYT1 G>A	16	3025542	3025542	G	A	PKMYT1	c.650C>T	NM_004203.5	NP_004194.3:p.(Thr217Met)	NC_000016.9:g.3025542G>A	(Likely) benign	1 lab	21994df1e3
16:24802364 TNRC6A CA>C	16	24802364	24802365	CA	C	TNRC6A	c.2402del	NM_014494.4	NP_055309.2:p.(Gln801ArgfsTer102)	NC_000016.9:g.24802365del	VUS	1 lab	219a002bf5
X:63411815 AMER1 C>T	X	63411815	63411815	C	T	AMER1	c.1352G>A	NM_152424.4	NP_689637.3:p.(Gly451Glu)	NC_000023.10:g.63411815C>T	(Likely) benign	1 lab	219a9f8588
1:94643160 ARHGAP29 C>T	1	94643160	94643160	C	T	ARHGAP29	c.2905+8G>A	NM_004815.4	NP_004806.3:p.?	NC_000001.10:g.94643160C>T	(Likely) benign	1 lab	219ae8940f
22:41513244 EP300 T>C	22	41513244	41513244	T	C	EP300	c.148T>C	NM_001429.4	NP_001420.2:p.(Ser50Pro)	NC_000022.10:g.41513244T>C	VUS	1 lab	219e86265a
1:45271957 DYNLT4 CT>C	1	45271957	45271958	CT	C	DYNLT4	c.383del	NM_001377534.1	NP_001364463.1:p.(Glu128GlyfsTer130)	NC_000001.10:g.45271958del	VUS	1 lab	219ea204c0
7:5998617 RSPH10B T>C	7	5998617	5998617	T	C	RSPH10B	c.659+7A>G	NM_173565.5	NP_775836.4:p.?	NC_000007.13:g.5998617T>C	(Likely) benign	1 lab	21a0676526
8:70744856 SLCO5A1 G>A	8	70744856	70744856	G	A	SLCO5A1	c.53C>T	NM_030958.3	NP_112220.2:p.(Pro18Leu)	NC_000008.10:g.70744856G>A	(Likely) benign	1 lab	21a21469a8
21:47850150 PCNT C>T	21	47850150	47850150	C	T	PCNT	c.7913+4C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47850150C>T	VUS	1 lab	21a39d3d89
4:88536754 DSPP C>G	4	88536754	88536754	C	G	DSPP	c.2940C>G	NM_014208.3	NP_055023.2:p.(Ser980Arg)	NC_000004.11:g.88536754C>G	VUS	1 lab	21a4989aee
15:42684832 CAPN3 TACAG>T	15	42684832	42684839	TACAG	T	CAPN3	c.946-1_948del	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42684836_42684839del	(Likely) pathogenic	1 lab	21a4ad4dc9
7:21698453 DNAH11 A>G	7	21698453	21698453	A	G	DNAH11	c.5132A>G	NM_001277115.2	NP_001264044.1:p.(Gln1711Arg)	NC_000007.13:g.21698453A>G	(Likely) benign	1 lab	21a4c720e8
10:103432671 FBXW4 C>T	10	103432671	103432671	C	T	FBXW4	c.1140+1G>A	NM_022039.4	NP_071322.2:p.?	NC_000010.10:g.103432671C>T	VUS	1 lab	21a532e86a
15:84611743 ADAMTSL3 A>G	15	84611743	84611743	A	G	ADAMTSL3	c.2399A>G	NM_207517.3	NP_997400.2:p.(Asp800Gly)	NC_000015.9:g.84611743A>G	VUS	1 lab	1ba06038c1
1:20678646 VWA5B1 G>A	1	20678646	20678646	G	A	VWA5B1	c.3122G>A	NM_001039500.3	NP_001034589.2:p.(Ser1041Asn)	NC_000001.10:g.20678646G>A	(Likely) benign	1 lab	21a72d9ed3
X:80370461 HMGN5 C>A	X	80370461	80370461	C	A	HMGN5	c.536G>T	NM_030763.3	NP_110390.1:p.(Gly179Val)	NC_000023.10:g.80370461C>A	(Likely) benign	1 lab	21aa383b37
15:34133083 RYR3 G>A	15	34133083	34133083	G	A	RYR3	c.13036G>A	NM_001036.6	NP_001027.3:p.(Asp4346Asn)	NC_000015.9:g.34133083G>A	VUS	1 lab	21aa913b8d
11:67815169 TCIRG1 CCATCTACACCGGCTT>C	11	67815169	67815192	CCATCTACACCGGCTT	C	TCIRG1	c.1370_1384del	NM_006019.4	NP_006010.2:p.(Thr457_Tyr461del)	NC_000011.9:g.67815178_67815192del	VUS	1 lab	21aaea713f
15:30700168 GOLGA8R C>CTTG	15	30700168	30700169	C	CTTG	GOLGA8R	c.813_814insCAA	NM_001282484.1	NP_001269413.1:p.(Gln271dup)	NC_000015.9:g.30700168_30700169insTTG	(Likely) benign	1 lab	21abc25f7f
3:47454407 PTPN23 T>C	3	47454407	47454407	T	C	PTPN23	c.4643T>C	NM_015466.4	NP_056281.1:p.(Leu1548Pro)	NC_000003.11:g.47454407T>C	(Likely) benign	1 lab	21ac7533a6
2:152447882 NEB A>T	2	152447882	152447882	A	T	NEB	c.14914T>A	NM_001164508.2	NP_001157980.2:p.(Ser4972Thr)	NC_000002.11:g.152447882A>T	(Likely) benign	1 lab	21ae1e4670
6:18121565 NHLRC1 A>T	6	18121565	18121565	A	T	NHLRC1	c.*85T>A	NM_198586.3	NP_940988.2:p.?	NC_000006.11:g.18121565A>T	(Likely) benign	1 lab	1bb9099dd2
6:42853734 RPL7L1 C>T	6	42853734	42853734	C	T	RPL7L1	c.472C>T	NM_001366481.3	NP_001353410.1:p.(Arg158Ter)	NC_000006.11:g.42853734C>T	VUS	1 lab	21b3d23156
5:125912877 ALDH7A1 A>G	5	125912877	125912877	A	G	ALDH7A1	c.544T>C	NM_001182.5	NP_001173.2:p.(Trp182Arg)	NC_000005.9:g.125912877A>G	VUS	1 lab	21b48d586c
19:46914689 CCDC8 T>C	19	46914689	46914689	T	C	CCDC8	c.1379A>G	NM_032040.5	NP_114429.2:p.(Gln460Arg)	NC_000019.9:g.46914689T>C	(Likely) benign	1 lab	21b4a6c60d
X:101970123 GPRASP2 G>A	X	101970123	101970123	G	A	GPRASP2	c.326G>A	NM_001004051.4	NP_001004051.1:p.(Arg109His)	NC_000023.10:g.101970123G>A	(Likely) benign	1 lab	21b5cebdbe
9:5126443 JAK2 T>A	9	5126443	5126443	T	A	JAK2	c.3288T>A	NM_004972.4	NP_004963.1:p.(Asp1096Glu)	NC_000009.11:g.5126443T>A	(Likely) benign	1 lab	21b6f61dd9
2:179650862 TTN C>A	2	179650862	179650862	C	A	TTN	c.2083G>T	NM_001267550.2	NP_001254479.2:p.(Val695Phe)	NC_000002.11:g.179650862C>A	VUS	1 lab	21b83f9a04
19:48946050 GRIN2D G>T	19	48946050	48946050	G	T	GRIN2D	c.2867G>T	NM_000836.4	NP_000827.2:p.(Gly956Val)	NC_000019.9:g.48946050G>T	VUS	1 lab	21b989fa27
X:136649871 ZIC3 C>G	X	136649871	136649871	C	G	ZIC3	c.1021C>G	NM_003413.4	NP_003404.1:p.(Arg341Gly)	NC_000023.10:g.136649871C>G	VUS	1 lab	21ba3bb55a
19:15648792 CYP4F22 G>C	19	15648792	15648792	G	C	CYP4F22	c.659G>C	NM_173483.4	NP_775754.2:p.(Ser220Thr)	NC_000019.9:g.15648792G>C	VUS	1 lab	21bb8667e1
9:3898718 GLIS3 G>A	9	3898718	3898718	G	A	GLIS3	c.2101C>T	NM_001042413.2	NP_001035878.1:p.(Pro701Ser)	NC_000009.11:g.3898718G>A	(Likely) benign	1 lab	21ca48a61e
2:172582108 DYNC1I2 G>GTT	2	172582108	172582124	G	GTT	DYNC1I2	c.512-5_512-4dup	NM_001378.3	NP_001369.1:p.?	NC_000002.11:g.172582123_172582124dup	(Likely) benign	1 lab	21bcc45262
6:87966429 ZNF292 TTGA>T	6	87966429	87966435	TTGA	T	ZNF292	c.3086_3088del	NM_015021.3	NP_055836.1:p.(Met1029del)	NC_000006.11:g.87966433_87966435del	VUS	1 lab	21bcd5cee2
15:42116754 MAPKBP1 G>A	15	42116754	42116754	G	A	MAPKBP1	c.4286G>A	NM_014994.3	NP_055809.2:p.(Arg1429Gln)	NC_000015.9:g.42116754G>A	VUS	1 lab	21bce784be
16:89349931 ANKRD11 G>A	16	89349931	89349931	G	A	ANKRD11	c.3019C>T	NM_013275.6	NP_037407.4:p.(Arg1007Ter)	NC_000016.9:g.89349931G>A	(Likely) pathogenic	1 lab	21be1a3243
2:228243908 TM4SF20 T>C	2	228243908	228243908	T	C	TM4SF20	c.77A>G	NM_024795.4	NP_079071.2:p.(Asn26Ser)	NC_000002.11:g.228243908T>C	VUS	1 lab	21be3d6ff2
6:116441441 COL10A1 C>G	6	116441441	116441441	C	G	COL10A1	c.1838G>C	NM_000493.4	NP_000484.2:p.(Gly613Ala)	NC_000006.11:g.116441441C>G	VUS	1 lab	21c0a9633e
14:75513435 MLH3 T>C	14	75513435	75513435	T	C	MLH3	c.2924A>G	NM_001040108.2	NP_001035197.1:p.(Asn975Ser)	NC_000014.8:g.75513435T>C	VUS	1 lab	21c2e35efe
16:1995913 RPL3L C>T	16	1995913	1995913	C	T	RPL3L	c.970G>A	NM_005061.3	NP_005052.1:p.(Gly324Arg)	NC_000016.9:g.1995913C>T	VUS	1 lab	21c30452b1
X:73744615 SLC16A2 C>T	X	73744615	73744615	C	T	SLC16A2	c.997C>T	NM_006517.5	NP_006508.2:p.(Leu333Phe)	NC_000023.10:g.73744615C>T	VUS	1 lab	21c38e0706
10:89505635 PAPSS2 G>A	10	89505635	89505635	G	A	PAPSS2	c.1768G>A	NM_001015880.2	NP_001015880.1:p.(Ala590Thr)	NC_000010.10:g.89505635G>A	VUS	1 lab	21c39cc801
11:64593946 CDC42BPG A>AGG	11	64593946	64593947	A	AGG	CDC42BPG	c.4594_4595insCC	NM_017525.3	NP_059995.2:p.(Met1532ThrfsTer26)	NC_000011.9:g.64593946_64593947insGG	VUS	1 lab	21c3cadfaa
19:39016036 RYR1 C>T	19	39016036	39016036	C	T	RYR1	c.10520C>T	NM_000540.3	NP_000531.2:p.(Thr3507Met)	NC_000019.9:g.39016036C>T	VUS	1 lab	21c3e5e857
17:73584212 MYO15B C>T	17	73584212	73584212	C	T	MYO15B	c.74C>T	NM_001395058.1	NP_001381987.1:p.(Ser25Leu)	NC_000017.10:g.73584212C>T	VUS	1 lab	21c605dfbb
7:21827067 DNAH11 C>T	7	21827067	21827067	C	T	DNAH11	c.9790C>T	NM_001277115.2	NP_001264044.1:p.(Pro3264Ser)	NC_000007.13:g.21827067C>T	VUS	1 lab	21c678f71a
8:145003587 PLEC G>A	8	145003587	145003587	G	A	PLEC	c.3076C>T	NM_201384.3	NP_958786.1:p.(Gln1026Ter)	NC_000008.10:g.145003587G>A	(Likely) pathogenic	1 lab	21c81be483
11:113146050 NCAM1 G>A	11	113146050	113146050	G	A	NCAM1	c.2518G>A	NM_181351.5	NP_851996.2:p.(Glu840Lys)	NC_000011.9:g.113146050G>A	VUS	1 lab	21cc73cf15
11:73689041 UCP2 C>T	11	73689041	73689041	C	T	UCP2	c.227G>A	NM_003355.3	NP_003346.2:p.(Arg76Gln)	NC_000011.9:g.73689041C>T	VUS	1 lab	21cd0482bb
7:152099123 KMT2C C>A	7	152099123	152099123	C	A	KMT2C	c.161+33588G>T	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099123C>A	(Likely) benign	1 lab	21cd6dc041
15:34042422 RYR3 CA>C	15	34042422	34042424	CA	C	RYR3	c.8336del	NM_001036.6	NP_001027.3:p.(Lys2779ArgfsTer15)	NC_000015.9:g.34042424del	VUS	1 lab	21ce3b72a0
9:111679513 ELP1 A>T	9	111679513	111679513	A	T	ELP1	c.864+314T>A	NM_003640.5	NP_003631.2:p.?	NC_000009.11:g.111679513A>T	(Likely) benign	1 lab	21cf957c3c
1:210761310 HHAT C>T	1	210761310	210761310	C	T	HHAT	c.1112C>T	NM_018194.6	NP_060664.2:p.(Thr371Ile)	NC_000001.10:g.210761310C>T	(Likely) benign	1 lab	21d13ecff5
11:66055687 YIF1A C>A	11	66055687	66055687	C	A	YIF1A	c.108G>T	NM_020470.3	NP_065203.2:p.(Gln36His)	NC_000011.9:g.66055687C>A	VUS	1 lab	21d21c58eb
17:42992435 GFAP C>T	17	42992435	42992435	C	T	GFAP	c.420G>A	NM_002055.5	NP_002046.1:p.(Glu140=)	NC_000017.10:g.42992435C>T	(Likely) benign	1 lab	21d2903b7e
19:15281504 NOTCH3 C>G	19	15281504	15281504	C	G	NOTCH3	c.4869G>C	NM_000435.3	NP_000426.2:p.(Pro1623=)	NC_000019.9:g.15281504C>G	(Likely) benign	1 lab	21d3109421
7:151879153 KMT2C G>A	7	151879153	151879153	G	A	KMT2C	c.5792C>T	NM_170606.3	NP_733751.2:p.(Ser1931Leu)	NC_000007.13:g.151879153G>A	(Likely) benign	1 lab	21d32e2c8b
11:71192427 NADSYN1 G>A	11	71192427	71192427	G	A	NADSYN1	c.1024G>A	NM_018161.5	NP_060631.2:p.(Asp342Asn)	NC_000011.9:g.71192427G>A	(Likely) benign	1 lab	21d3a5ea0a
15:90212810 PLIN1 C>A	15	90212810	90212810	C	A	PLIN1	c.692G>T	NM_002666.5	NP_002657.3:p.(Arg231Leu)	NC_000015.9:g.90212810C>A	(Likely) benign	1 lab	21d407e737
9:98643479 ERCC6L2 C>G	9	98643479	98643479	C	G	ERCC6L2	c.375C>G	NM_020207.7	NP_064592.3:p.(Asp125Glu)	NC_000009.11:g.98643479C>G	(Likely) benign	1 lab	21d427b18b
22:32302427 DEPDC5 C>T	22	32302427	32302427	C	T	DEPDC5	c.4756C>T	NM_001242896.3	NP_001229825.1:p.(Arg1586Trp)	NC_000022.10:g.32302427C>T	VUS	1 lab	21d4389496
10:71690163 COL13A1 G>A	10	71690163	71690163	G	A	COL13A1	c.1538G>A	NM_001368882.1	NP_001355811.1:p.(Arg513His)	NC_000010.10:g.71690163G>A	VUS	1 lab	21d4613440
X:73961801 NEXMIF G>A	X	73961801	73961801	G	A	NEXMIF	c.2591C>T	NM_001008537.3	NP_001008537.1:p.(Thr864Ile)	NC_000023.10:g.73961801G>A	VUS	1 lab	21d4dba790
18:10704555 PIEZO2 A>G	18	10704555	10704555	A	G	PIEZO2	c.6095T>C	NM_001378183.1	NP_001365112.1:p.(Val2032Ala)	NC_000018.9:g.10704555A>G	VUS	1 lab	21d4e88f0e
1:152190881 HRNR G>T	1	152190881	152190881	G	T	HRNR	c.3224C>A	NM_001009931.3	NP_001009931.1:p.(Thr1075Asn)	NC_000001.10:g.152190881G>T	(Likely) benign	1 lab	21d711a775
9:137007160 WDR5 G>A	9	137007160	137007160	G	A	WDR5	c.354G>A	NM_017588.3	NP_060058.1:p.(Ser118=)	NC_000009.11:g.137007160G>A	(Likely) benign	1 lab	21d8ea9d86
19:41120287 LTBP4 G>A	19	41120287	41120287	G	A	LTBP4	c.2747G>A	NM_001042545.2	NP_001036010.1:p.(Gly916Asp)	NC_000019.9:g.41120287G>A	VUS	1 lab	21da941242
16:3707091 DNASE1 C>G	16	3707091	3707091	C	G	DNASE1	c.528C>G	NM_005223.4	NP_005214.2:p.(Val176=)	NC_000016.9:g.3707091C>G	(Likely) benign	1 lab	21dc46c2cd
16:2158655 PKD1 G>C	16	2158655	2158655	G	C	PKD1	c.6513C>G	NM_001009944.3	NP_001009944.3:p.(Ala2171=)	NC_000016.9:g.2158655G>C	VUS	1 lab	21ddfe72f2
17:40371473 STAT5B G>A	17	40371473	40371473	G	A	STAT5B	c.690C>T	NM_012448.4	NP_036580.2:p.(Ala230=)	NC_000017.10:g.40371473G>A	(Likely) benign	1 lab	21deb294ab
9:131768940 NUP188 C>T	9	131768940	131768940	C	T	NUP188	c.5233C>T	NM_015354.3	NP_056169.1:p.(Arg1745Trp)	NC_000009.11:g.131768940C>T	VUS	1 lab	1ba3b2ef43
2:220432466 OBSL1 C>T	2	220432466	220432466	C	T	OBSL1	c.1508G>A	NM_015311.3	NP_056126.1:p.(Arg503His)	NC_000002.11:g.220432466C>T	VUS	1 lab	21df420f99
X:3530284 PRKX G>A	X	3530284	3530284	G	A	PRKX	c.1034C>T	NM_005044.5	NP_005035.1:p.(Ala345Val)	NC_000023.10:g.3530284G>A	VUS	1 lab	21dfe7b216
16:2816615 SRRM2 G>A	16	2816615	2816615	G	A	SRRM2	c.6086G>A	NM_016333.4	NP_057417.3:p.(Arg2029His)	NC_000016.9:g.2816615G>A	VUS	1 lab	21e0fb5d32
17:36104627 HNF1B G>T	17	36104627	36104627	G	T	HNF1B	c.249C>A	NM_000458.4	NP_000449.1:p.(Gly83=)	NC_000017.10:g.36104627G>T	(Likely) benign	1 lab	21e1c90012
9:124048464 GSN G>T	9	124048464	124048464	G	T	GSN	c.-10+4624G>T	NM_001353053.1	NP_001339982.1:p.?	NC_000009.11:g.124048464G>T	VUS	1 lab	1ba41c0448
7:127983941 RBM28 C>T	7	127983941	127983941	C	T	RBM28	c.-94G>A	NM_018077.3	NP_060547.2:p.?	NC_000007.13:g.127983941C>T	VUS	1 lab	21e2e1dac2
16:3823890 CREBBP C>T	16	3823890	3823890	C	T	CREBBP	c.2325G>A	NM_004380.3	NP_004371.2:p.(Met775Ile)	NC_000016.9:g.3823890C>T	(Likely) benign	1 lab	21e4edf9e6
7:48314137 ABCA13 TG>T	7	48314137	48314138	TG	T	ABCA13	c.4875del	NM_152701.5	NP_689914.3:p.(Met1625IlefsTer10)	NC_000007.13:g.48314138del	VUS	1 lab	21e60b6296
2:73681098 ALMS1 C>A	2	73681098	73681098	C	A	ALMS1	c.7444C>A	NM_001378454.1	NP_001365383.1:p.(His2482Asn)	NC_000002.11:g.73681098C>A	(Likely) benign	1 lab	21e67a573c
X:54048769 PHF8 A>T	X	54048769	54048769	A	T	PHF8	c.216T>A	NM_015107.3	NP_055922.1:p.(His72Gln)	NC_000023.10:g.54048769A>T	VUS	1 lab	21e6e2dea0
4:122775958 BBS7 G>A	4	122775958	122775958	G	A	BBS7	c.619C>T	NM_176824.3	NP_789794.1:p.(Leu207Phe)	NC_000004.11:g.122775958G>A	VUS	1 lab	21e6f11ab3
17:45822319 TBX21 T>A	17	45822319	45822319	T	A	TBX21	c.1195T>A	NM_013351.2	NP_037483.1:p.(Phe399Ile)	NC_000017.10:g.45822319T>A	VUS	1 lab	21e78edeb4
17:76993284 CANT1 C>T	17	76993284	76993284	C	T	CANT1	c.421G>A	NM_001159773.2	NP_001153245.1:p.(Asp141Asn)	NC_000017.10:g.76993284C>T	VUS	1 lab	21e8296eee
9:140707590 EHMT1 C>T	9	140707590	140707590	C	T	EHMT1	c.3000C>T	NM_024757.5	NP_079033.4:p.(Pro1000=)	NC_000009.11:g.140707590C>T	(Likely) benign	1 lab	21e839f4fa
15:89399966 ACAN G>GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	15	89399966	89400042	G	GCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTA	ACAN	c.4170_4226dup	NM_001369268.1	NP_001356197.1:p.(Asp1390_Glu1408dup)	NC_000015.9:g.89399986_89400042dup	(Likely) benign	1 lab	21ea4ebc78
22:28196288 MN1 C>T	22	28196288	28196288	C	T	MN1	c.244G>A	NM_002430.3	NP_002421.3:p.(Gly82Arg)	NC_000022.10:g.28196288C>T	(Likely) benign	1 lab	21ea538fd8
6:41533701 FOXP4 A>G	6	41533701	41533701	A	G	FOXP4	c.203A>G	NM_001012426.2	NP_001012426.1:p.(Gln68Arg)	NC_000006.11:g.41533701A>G	VUS	1 lab	21ea821a60
4:87693953 PTPN13 G>GATATGGCT	4	87693953	87693961	G	GATATGGCT	PTPN13	c.5192_5199dup	NM_080683.3	NP_542414.1:p.(Pro1734IlefsTer40)	NC_000004.11:g.87693954_87693961dup	VUS	1 lab	21eccfd2f5
15:89402299 ACAN G>A	15	89402299	89402299	G	A	ACAN	c.6483G>A	NM_001369268.1	NP_001356197.1:p.(Ala2161=)	NC_000015.9:g.89402299G>A	(Likely) benign	1 lab	21ed2b5e95
16:3900288 CREBBP G>A	16	3900288	3900288	G	A	CREBBP	c.798+10C>T	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3900288G>A	(Likely) benign	1 lab	21ed6243cf
16:71961535 IST1 A>C	16	71961535	71961535	A	C	IST1	c.920A>C	NM_001270975.2	NP_001257904.1:p.(Glu307Ala)	NC_000016.9:g.71961535A>C	(Likely) benign	1 lab	21ee6eba88
16:30991363 SETD1A G>C	16	30991363	30991363	G	C	SETD1A	c.4256G>C	NM_014712.3	NP_055527.1:p.(Ser1419Thr)	NC_000016.9:g.30991363G>C	(Likely) benign	1 lab	21ef391e99
8:11607703 GATA4 G>C	8	11607703	11607703	G	C	GATA4	c.870G>C	NM_001308093.3	NP_001295022.1:p.(Glu290Asp)	NC_000008.10:g.11607703G>C	VUS	1 lab	21f10cfa62
3:9962299 IL17RC C>G	3	9962299	9962299	C	G	IL17RC	c.790+13C>G	NM_153461.4	NP_703191.2:p.?	NC_000003.11:g.9962299C>G	(Likely) benign	1 lab	1bba5e4584
6:157222526 ARID1B G>A	6	157222526	157222526	G	A	ARID1B	c.2042G>A	NM_001371656.1	NP_001358585.1:p.(Gly681Glu)	NC_000006.11:g.157222526G>A	VUS	1 lab	1ba67c7ddc
10:103281636 BTRC A>G	10	103281636	103281636	A	G	BTRC	c.556+9A>G	NM_033637.4	NP_378663.1:p.?	NC_000010.10:g.103281636A>G	(Likely) benign	1 lab	21f4343def
4:109822300 COL25A1 CCTA>C	4	109822300	109822305	CCTA	C	COL25A1	c.806_808del	NM_198721.4	NP_942014.1:p.(Val269del)	NC_000004.11:g.109822303_109822305del	VUS	1 lab	21f5ba1ed5
2:176983799 HOXD10 A>G	2	176983799	176983799	A	G	HOXD10	c.863A>G	NM_002148.4	NP_002139.2:p.(Asn288Ser)	NC_000002.11:g.176983799A>G	VUS	1 lab	21f64ffe35
2:48026640 MSH6 T>TA	2	48026640	48026641	T	TA	MSH6	c.1519dup	NM_000179.3	NP_000170.1:p.(Arg507LysfsTer9)	NC_000002.11:g.48026641dup	(Likely) pathogenic	1 lab	21f671ce7c
17:916372 ABR C>T	17	916372	916372	C	T	ABR	c.1824G>A	NM_021962.5	NP_068781.2:p.(Trp608Ter)	NC_000017.10:g.916372C>T	VUS	1 lab	21f83addd0
4:119652584 SEC24D A>G	4	119652584	119652584	A	G	SEC24D	c.2755T>C	NM_014822.4	NP_055637.2:p.(Phe919Leu)	NC_000004.11:g.119652584A>G	VUS	1 lab	21f8d48ed2
14:105410898 AHNAK2 G>C	14	105410898	105410898	G	C	AHNAK2	c.10890C>G	NM_138420.4	NP_612429.2:p.(Asp3630Glu)	NC_000014.8:g.105410898G>C	(Likely) benign	1 lab	21fa9bb1b9
13:36878758 SPART T>A	13	36878758	36878758	T	A	SPART	c.1745A>T	NM_015087.5	NP_055902.1:p.(Asn582Ile)	NC_000013.10:g.36878758T>A	VUS	1 lab	21fae0b6af
16:2167515 PKD1 G>A	16	2167515	2167515	G	A	PKD1	c.1360C>T	NM_001009944.3	NP_001009944.3:p.(Arg454Cys)	NC_000016.9:g.2167515G>A	VUS	1 lab	21fc9cc29d
19:18900930 COMP G>C	19	18900930	18900930	G	C	COMP	c.218-7C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18900930G>C	(Likely) benign	1 lab	21fd206681
2:179517462 TTN T>C	2	179517462	179517462	T	C	TTN	c.38961A>G	NM_001267550.2	NP_001254479.2:p.(Val12987=)	NC_000002.11:g.179517462T>C	(Likely) benign	1 lab	21fd8459fb
3:20042968 PP2D1 G>A	3	20042968	20042968	G	A	PP2D1	c.644C>T	NM_001252657.2	NP_001239586.1:p.(Ala215Val)	NC_000003.11:g.20042968G>A	VUS	1 lab	21fea536c6
14:20897132 KLHL33 C>T	14	20897132	20897132	C	T	KLHL33	c.2270G>A	NM_001365790.2	NP_001352719.1:p.(Arg757Gln)	NC_000014.8:g.20897132C>T	VUS	1 lab	22005edbc2
7:1538972 INTS1 G>A	7	1538972	1538972	G	A	INTS1	c.869C>T	NM_001080453.3	NP_001073922.2:p.(Thr290Met)	NC_000007.13:g.1538972G>A	(Likely) benign	1 lab	22020760a5
18:47429154 MYO5B C>T	18	47429154	47429154	C	T	MYO5B	c.2621G>A	NM_001080467.3	NP_001073936.1:p.(Trp874Ter)	NC_000018.9:g.47429154C>T	(Likely) pathogenic	1 lab	33d0256eac
17:7111487 DLG4 G>T	17	7111487	7111487	G	T	DLG4	c.96+6C>A	NM_001321075.3	NP_001308004.1:p.?	NC_000017.10:g.7111487G>T	(Likely) benign	1 lab	22026dea43
X:54282300 WNK3 G>A	X	54282300	54282300	G	A	WNK3	c.2123C>T	NM_020922.5	NP_065973.2:p.(Thr708Ile)	NC_000023.10:g.54282300G>A	VUS	1 lab	2202944514
X:128703315 OCRL G>A	X	128703315	128703315	G	A	OCRL	c.1541G>A	NM_000276.4	NP_000267.2:p.(Arg514Gln)	NC_000023.10:g.128703315G>A	VUS	1 lab	2202da6a2e
15:90189128 KIF7 G>A	15	90189128	90189128	G	A	KIF7	c.1918C>T	NM_198525.3	NP_940927.2:p.(Arg640Cys)	NC_000015.9:g.90189128G>A	VUS	1 lab	22040bb48f
17:17131402 FLCN C>CG	17	17131402	17131407	C	CG	FLCN	c.49dup	NM_144997.7	NP_659434.2:p.(Arg17ProfsTer20)	NC_000017.10:g.17131407dup	(Likely) pathogenic	1 lab	2204daeaa0
1:31467916 PUM1 TCTG>T	1	31467916	31467920	TCTG	T	PUM1	c.869_871del	NM_001020658.2	NP_001018494.1:p.(Ala290del)	NC_000001.10:g.31467918_31467920del	(Likely) benign	1 lab	22055dd16c
3:47453880 PTPN23 G>A	3	47453880	47453880	G	A	PTPN23	c.4286G>A	NM_015466.4	NP_056281.1:p.(Arg1429Gln)	NC_000003.11:g.47453880G>A	(Likely) pathogenic	1 lab	220625da57
4:57785991 REST A>G	4	57785991	57785991	A	G	REST	c.937A>G	NM_005612.5	NP_005603.3:p.(Ser313Gly)	NC_000004.11:g.57785991A>G	VUS	1 lab	220660d8d3
16:30749724 SRCAP C>T	16	30749724	30749724	C	T	SRCAP	c.8363C>T	NM_006662.3	NP_006653.2:p.(Pro2788Leu)	NC_000016.9:g.30749724C>T	(Likely) benign	1 lab	22082abbc4
2:55561944 CCDC88A T>A	2	55561944	55561944	T	A	CCDC88A	c.2013A>T	NM_001365480.1	NP_001352409.1:p.(Glu671Asp)	NC_000002.11:g.55561944T>A	(Likely) benign	1 lab	2208302b26
15:63970399 HERC1 C>T	15	63970399	63970399	C	T	HERC1	c.6715G>A	NM_003922.4	NP_003913.3:p.(Glu2239Lys)	NC_000015.9:g.63970399C>T	VUS	1 lab	22086e313c
8:145535890 HSF1 T>C	8	145535890	145535890	T	C	HSF1	c.1102T>C	NM_005526.4	NP_005517.1:p.(Ser368Pro)	NC_000008.10:g.145535890T>C	(Likely) benign	1 lab	22091b1a36
22:41527583 EP300 C>A	22	41527583	41527583	C	A	EP300	c.1474C>A	NM_001429.4	NP_001420.2:p.(Gln492Lys)	NC_000022.10:g.41527583C>A	VUS	1 lab	22099b36bb
4:178360822 AGA G>A	4	178360822	178360822	G	A	AGA	c.302C>T	NM_000027.4	NP_000018.2:p.(Ala101Val)	NC_000004.11:g.178360822G>A	(Likely) pathogenic	1 lab	1ba8d92a31
X:47069528 UBA1 G>A	X	47069528	47069528	G	A	UBA1	c.2199+6G>A	NM_003334.4	NP_003325.2:p.?	NC_000023.10:g.47069528G>A	(Likely) benign	1 lab	220d0cc432
X:71360097 NHSL2 C>T	X	71360097	71360097	C	T	NHSL2	c.2699C>T	NM_001013627.3	NP_001013649.2:p.(Pro900Leu)	NC_000023.10:g.71360097C>T	(Likely) benign	1 lab	220d1bfa13
9:139733885 RABL6 G>A	9	139733885	139733885	G	A	RABL6	c.1705G>A	NM_024718.5	NP_078994.3:p.(Val569Ile)	NC_000009.11:g.139733885G>A	VUS	1 lab	220d9b256c
X:57936231 ZXDA T>G	X	57936231	57936231	T	G	ZXDA	c.624A>C	NM_007156.5	NP_009087.1:p.(Gln208His)	NC_000023.10:g.57936231T>G	(Likely) benign	1 lab	220efb4686
3:52384054 DNAH1 A>G	3	52384054	52384054	A	G	DNAH1	c.2576A>G	NM_015512.5	NP_056327.4:p.(Asn859Ser)	NC_000003.11:g.52384054A>G	VUS	1 lab	220fb80980
19:12786623 WDR83 G>A	19	12786623	12786623	G	A	WDR83	c.*137G>A	NM_001099737.3	NP_001093207.1:p.?	NC_000019.9:g.12786623G>A	VUS	1 lab	2210f1a2eb
9:119158847 PAPPA G>C	9	119158847	119158847	G	C	PAPPA	c.4836G>C	NM_002581.5	NP_002572.2:p.(Gln1612His)	NC_000009.11:g.119158847G>C	(Likely) benign	1 lab	22121973a5
6:117248710 RFX6 T>C	6	117248710	117248710	T	C	RFX6	c.2398+8T>C	NM_173560.4	NP_775831.2:p.?	NC_000006.11:g.117248710T>C	(Likely) benign	1 lab	22129f8401
6:1313982 FOXQ1 T>C	6	1313982	1313982	T	C	FOXQ1	c.1043T>C	NM_033260.4	NP_150285.3:p.(Leu348Pro)	NC_000006.11:g.1313982T>C	(Likely) benign	1 lab	2212c02494
9:131370294 SPTAN1 G>A	9	131370294	131370294	G	A	SPTAN1	c.4310G>A	NM_001130438.3	NP_001123910.1:p.(Arg1437His)	NC_000009.11:g.131370294G>A	VUS	1 lab	221431fad8
15:99460108 IGF1R A>G	15	99460108	99460108	A	G	IGF1R	c.2201+3A>G	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99460108A>G	VUS	1 lab	221537a5c3
16:89347972 ANKRD11 T>C	16	89347972	89347972	T	C	ANKRD11	c.4978A>G	NM_013275.6	NP_037407.4:p.(Ile1660Val)	NC_000016.9:g.89347972T>C	VUS	1 lab	2216006ee6
10:61832892 ANK3 C>T	10	61832892	61832892	C	T	ANK3	c.7747G>A	NM_020987.5	NP_066267.2:p.(Glu2583Lys)	NC_000010.10:g.61832892C>T	VUS	1 lab	221793da0f
11:119030981 ABCG4 G>A	11	119030981	119030981	G	A	ABCG4	c.1482G>A	NM_022169.5	NP_071452.2:p.(Thr494=)	NC_000011.9:g.119030981G>A	(Likely) benign	1 lab	2217e59460
9:135937451 CEL C>T	9	135937451	135937451	C	T	CEL	c.62C>T	NM_001807.6	NP_001798.3:p.(Ala21Val)	NC_000009.11:g.135937451C>T	(Likely) benign	1 lab	2217eca2a0
15:44889058 SPG11 A>G	15	44889058	44889058	A	G	SPG11	c.4085T>C	NM_025137.4	NP_079413.3:p.(Leu1362Pro)	NC_000015.9:g.44889058A>G	VUS	1 lab	2218259956
12:106848369 POLR3B A>G	12	106848369	106848369	A	G	POLR3B	c.2173A>G	NM_018082.6	NP_060552.4:p.(Ile725Val)	NC_000012.11:g.106848369A>G	VUS	1 lab	22194605a9
X:47308346 ZNF41 C>T	X	47308346	47308346	C	T	ZNF41	c.823G>A	NM_007130.4	NP_009061.1:p.(Glu275Lys)	NC_000023.10:g.47308346C>T	(Likely) benign	1 lab	1ba9f699d3
1:147380421 GJA8 G>C	1	147380421	147380421	G	C	GJA8	c.339G>C	NM_005267.5	NP_005258.2:p.(Glu113Asp)	NC_000001.10:g.147380421G>C	(Likely) benign	1 lab	221beb3924
4:123130501 BLTP1 G>A	4	123130501	123130501	G	A	BLTP1	c.1931+9G>A	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123130501G>A	(Likely) benign	1 lab	221c9ebb70
10:37520608 ANKRD30A GGTTA>G	10	37520608	37520616	GGTTA	G	ANKRD30A	c.*211+5_*211+8del	NM_052997.3	NP_443723.3:p.?	NC_000010.10:g.37520613_37520616del	VUS	1 lab	221ca0a9e2
1:177929477 SEC16B C>T	1	177929477	177929477	C	T	SEC16B	c.998G>A	NM_033127.4	NP_149118.2:p.(Arg333Lys)	NC_000001.10:g.177929477C>T	VUS	1 lab	221d8ba42f
16:30736263 SRCAP C>T	16	30736263	30736263	C	T	SRCAP	c.5518C>T	NM_006662.3	NP_006653.2:p.(Arg1840Trp)	NC_000016.9:g.30736263C>T	VUS	1 lab	221da87a5d
8:11566061 GATA4 C>T	8	11566061	11566061	C	T	GATA4	c.240C>T	NM_001308093.3	NP_001295022.1:p.(Pro80=)	NC_000008.10:g.11566061C>T	(Likely) benign	1 lab	221f636641
1:22176910 HSPG2 C>T	1	22176910	22176910	C	T	HSPG2	c.7240G>A	NM_005529.7	NP_005520.4:p.(Val2414Met)	NC_000001.10:g.22176910C>T	(Likely) benign	1 lab	221fac5e43
20:50408888 SALL4 G>C	20	50408888	50408888	G	C	SALL4	c.134C>G	NM_020436.5	NP_065169.1:p.(Ala45Gly)	NC_000020.10:g.50408888G>C	VUS	1 lab	221feed438
21:34100261 SYNJ1 T>A	21	34100261	34100261	T	A	SYNJ1	c.-27A>T	NM_203446.3	NP_982271.3:p.?	NC_000021.8:g.34100261T>A	VUS	1 lab	22207fe249
7:44268445 CAMK2B C>T	7	44268445	44268445	C	T	CAMK2B	c.1418G>A	NM_001220.5	NP_001211.3:p.(Gly473Glu)	NC_000007.13:g.44268445C>T	VUS	1 lab	2222536f7f
21:47532237 COL6A2 G>A	21	47532237	47532237	G	A	COL6A2	c.460G>A	NM_001849.4	NP_001840.3:p.(Val154Ile)	NC_000021.8:g.47532237G>A	(Likely) benign	1 lab	2222d79f07
11:85968614 EED A>C	11	85968614	85968614	A	C	EED	c.610A>C	NM_003797.5	NP_003788.2:p.(Asn204His)	NC_000011.9:g.85968614A>C	VUS	1 lab	22230aa597
X:114426852 RBMXL3 G>A	X	114426852	114426852	G	A	RBMXL3	c.2848G>A	NM_001145346.2	NP_001138818.1:p.(Glu950Lys)	NC_000023.10:g.114426852G>A	VUS	1 lab	222428730f
7:27239258 HOXA13 CGCCCGCCGG>C	7	27239258	27239279	CGCCCGCCGG	C	HOXA13	c.430_438del	NM_000522.5	NP_000513.2:p.(Pro144_Gly146del)	NC_000007.13:g.27239271_27239279del	VUS	1 lab	2224c599ee
6:43487453 POLR1C A>G	6	43487453	43487453	A	G	POLR1C	c.259A>G	NM_203290.4	NP_976035.1:p.(Met87Val)	NC_000006.11:g.43487453A>G	(Likely) benign	1 lab	22259d3c1d
16:70698177 MTSS2 C>CGTGGGCAGCCCCGCG	16	70698177	70698203	C	CGTGGGCAGCCCCGCG	MTSS2	c.1632_1646dup	NM_138383.3	NP_612392.1:p.(Gly546_Ala550dup)	NC_000016.9:g.70698189_70698203dup	(Likely) benign	1 lab	2227fd900e
10:121411275 BAG3 AT>A	10	121411275	121411276	AT	A	BAG3	c.89del	NM_004281.4	NP_004272.2:p.(Ile30ThrfsTer181)	NC_000010.10:g.121411276del	(Likely) pathogenic	1 lab	1bcd6a9545
2:109371498 RANBP2 G>A	2	109371498	109371498	G	A	RANBP2	c.2340G>A	NM_006267.4	NP_006258.3:p.(Pro780=)	NC_000002.11:g.109371498G>A	(Likely) benign	1 lab	1bcfe652dd
16:88782643 PIEZO1 G>C	16	88782643	88782643	G	C	PIEZO1	c.7092C>G	NM_001142864.4	NP_001136336.2:p.(Asn2364Lys)	NC_000016.9:g.88782643G>C	VUS	1 lab	222b3e0306
11:639650 DRD4 TCGTGGC>T	11	639650	639666	TCGTGGC	T	DRD4	c.412_417del	NM_000797.4	NP_000788.2:p.(Ala138_Val139del)	NC_000011.9:g.639661_639666del	VUS	1 lab	222c1415d8
6:129775417 LAMA2 C>T	6	129775417	129775417	C	T	LAMA2	c.6691C>T	NM_000426.4	NP_000417.3:p.(Arg2231Cys)	NC_000006.11:g.129775417C>T	VUS	1 lab	222c71976f
3:47887248 DHX30 C>T	3	47887248	47887248	C	T	DHX30	c.998C>T	NM_138615.3	NP_619520.1:p.(Ala333Val)	NC_000003.11:g.47887248C>T	(Likely) benign	1 lab	222c77b9de
1:55167924 MROH7 T>C	1	55167924	55167924	T	C	MROH7	c.3441+6T>C	NM_001039464.4	NP_001034553.3:p.?	NC_000001.10:g.55167924T>C	(Likely) benign	1 lab	222d20f2c3
19:11361620 DOCK6 C>T	19	11361620	11361620	C	T	DOCK6	c.650G>A	NM_020812.4	NP_065863.2:p.(Arg217Gln)	NC_000019.9:g.11361620C>T	(Likely) benign	1 lab	222d9731d3
6:31931204 SKIC2 G>A	6	31931204	31931204	G	A	SKIC2	c.1418G>A	NM_006929.5	NP_008860.4:p.(Arg473His)	NC_000006.11:g.31931204G>A	VUS	1 lab	222ea706cf
22:51153385 SHANK3 G>A	22	51153385	51153385	G	A	SHANK3	c.2400G>A	NM_001372044.2	NP_001358973.1:p.(Thr800=)	NC_000022.10:g.51153385G>A	VUS	1 lab	222ecce539
13:32910764 BRCA2 A>T	13	32910764	32910764	A	T	BRCA2	c.2272A>T	NM_000059.4	NP_000050.3:p.(Ser758Cys)	NC_000013.10:g.32910764A>T	VUS	1 lab	1baab7a78b
12:57599365 LRP1 G>C	12	57599365	57599365	G	C	LRP1	c.11495G>C	NM_002332.3	NP_002323.2:p.(Gly3832Ala)	NC_000012.11:g.57599365G>C	VUS	1 lab	2231af0c2a
11:76901093 MYO7A C>T	11	76901093	76901093	C	T	MYO7A	c.3659C>T	NM_000260.4	NP_000251.3:p.(Pro1220Leu)	NC_000011.9:g.76901093C>T	VUS	1 lab	2231b9f4b2
5:60826846 ZSWIM6 G>C	5	60826846	60826846	G	C	ZSWIM6	c.1985-446G>C	NM_020928.2	NP_065979.1:p.?	NC_000005.9:g.60826846G>C	(Likely) benign	1 lab	2232754a36
10:120928043 PRDX3 G>C	10	120928043	120928043	G	C	PRDX3	c.720C>G	NM_006793.5	NP_006784.1:p.(Ile240Met)	NC_000010.10:g.120928043G>C	VUS	1 lab	2232b57711
5:14389440 TRIO C>T	5	14389440	14389440	C	T	TRIO	c.3991C>T	NM_007118.4	NP_009049.2:p.(Pro1331Ser)	NC_000005.9:g.14389440C>T	VUS	1 lab	22330a3f44
15:34130980 RYR3 T>G	15	34130980	34130980	T	G	RYR3	c.12799T>G	NM_001036.6	NP_001027.3:p.(Phe4267Val)	NC_000015.9:g.34130980T>G	VUS	1 lab	223315e026
4:85603551 WDFY3 C>T	4	85603551	85603551	C	T	WDFY3	c.9799G>A	NM_014991.6	NP_055806.2:p.(Glu3267Lys)	NC_000004.11:g.85603551C>T	(Likely) benign	1 lab	2233b52992
1:22168161 HSPG2 C>T	1	22168161	22168161	C	T	HSPG2	c.9199G>A	NM_005529.7	NP_005520.4:p.(Val3067Ile)	NC_000001.10:g.22168161C>T	VUS	1 lab	2233b8dc3e
X:1424437 CSF2RA G>A	X	1424437	1424437	G	A	CSF2RA	c.1125+17G>A	NM_006140.5	NP_006131.2:p.?	NC_000023.10:g.1424437G>A	(Likely) benign	1 lab	1bd0b86cd8
3:48508343 TREX1 C>A	3	48508343	48508343	C	A	TREX1	c.289C>A	NM_033629.6	NP_338599.1:p.(Arg97Ser)	NC_000003.11:g.48508343C>A	VUS	1 lab	2234d50c0a
18:42529913 SETBP1 G>A	18	42529913	42529913	G	A	SETBP1	c.608G>A	NM_015559.3	NP_056374.2:p.(Gly203Asp)	NC_000018.9:g.42529913G>A	VUS	1 lab	223630a23c
22:24640586 GGT5 A>T	22	24640586	24640586	A	T	GGT5	c.108T>A	NM_004121.5	NP_004112.2:p.(Cys36Ter)	NC_000022.10:g.24640586A>T	VUS	1 lab	31d17c6ca5
4:148591867 PRMT9 G>C	4	148591867	148591867	G	C	PRMT9	c.771C>G	NM_138364.4	NP_612373.2:p.(Val257=)	NC_000004.11:g.148591867G>C	(Likely) benign	1 lab	223978d58b
17:61558487 ACE G>T	17	61558487	61558487	G	T	ACE	c.883G>T	NM_000789.4	NP_000780.1:p.(Asp295Tyr)	NC_000017.10:g.61558487G>T	VUS	1 lab	2239a6e3ba
X:63410892 AMER1 C>A	X	63410892	63410892	C	A	AMER1	c.2275G>T	NM_152424.4	NP_689637.3:p.(Val759Phe)	NC_000023.10:g.63410892C>A	VUS	1 lab	223b5af201
5:89931169 ADGRV1 T>C	5	89931169	89931169	T	C	ADGRV1	c.2016+62T>C	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89931169T>C	(Likely) benign	1 lab	1bde2ee8d2
4:77105938 SCARB2 CAAAAA>C	4	77105938	77105952	CAAAAA	C	SCARB2	c.276-3689_276-3685del	NM_005506.4	NP_005497.1:p.?	NC_000004.11:g.77105948_77105952del	(Likely) benign	1 lab	1bdf9f5d0c
6:170592500 DLL1 C>T	6	170592500	170592500	C	T	DLL1	c.1867G>A	NM_005618.4	NP_005609.3:p.(Gly623Arg)	NC_000006.11:g.170592500C>T	(Likely) benign	1 lab	223dca9477
X:85119649 CHM C>T	X	85119649	85119649	C	T	CHM	c.1948G>A	NM_000390.4	NP_000381.1:p.(Glu650Lys)	NC_000023.10:g.85119649C>T	VUS	1 lab	223e0029fa
9:117044843 COL27A1 C>T	9	117044843	117044843	C	T	COL27A1	c.3878C>T	NM_032888.4	NP_116277.2:p.(Thr1293Met)	NC_000009.11:g.117044843C>T	(Likely) benign	1 lab	223f95e9e7
X:124454266 TEX13C T>C	X	124454266	124454266	T	C	TEX13C	c.298T>C	NM_001195272.2	NP_001182201.1:p.(Cys100Arg)	NC_000023.10:g.124454266T>C	(Likely) benign	1 lab	2240fc2ffb
4:159154109 TMEM144 A>G	4	159154109	159154109	A	G	TMEM144	c.470A>G	NM_018342.5	NP_060812.2:p.(Asp157Gly)	NC_000004.11:g.159154109A>G	(Likely) benign	1 lab	2243389d9c
9:136341381 SLC2A6 T>A	9	136341381	136341381	T	A	SLC2A6	c.540A>T	NM_017585.4	NP_060055.2:p.(Gly180=)	NC_000009.11:g.136341381T>A	VUS	1 lab	2245328a07
11:72145446 CLPB T>C	11	72145446	72145446	T	C	CLPB	c.73A>G	NM_001258392.3	NP_001245321.1:p.(Thr25Ala)	NC_000011.9:g.72145446T>C	VUS	1 lab	22455bfffa
12:6442930 TNFRSF1A A>T	12	6442930	6442930	A	T	TNFRSF1A	c.295T>A	NM_001065.3	NP_001056.1:p.(Cys99Ser)	NC_000012.11:g.6442930A>T	(Likely) pathogenic	1 lab	1be09415aa
19:12763261 MAN2B1 G>A	19	12763261	12763261	G	A	MAN2B1	c.1844C>T	NM_000528.4	NP_000519.2:p.(Thr615Met)	NC_000019.9:g.12763261G>A	VUS	1 lab	2246eb5fa6
2:220428069 OBSL1 C>T	2	220428069	220428069	C	T	OBSL1	c.2680+8G>A	NM_015311.3	NP_056126.1:p.?	NC_000002.11:g.220428069C>T	VUS	1 lab	2249b078a8
18:61383303 SERPINB11 C>G	18	61383303	61383303	C	G	SERPINB11	c.392C>G	NM_001370475.1	NP_001357404.1:p.(Ala131Gly)	NC_000018.9:g.61383303C>G	VUS	1 lab	2249bf3593
2:25505572 DNMT3A G>A	2	25505572	25505572	G	A	DNMT3A	c.186C>T	NM_022552.5	NP_072046.2:p.(Ser62=)	NC_000002.11:g.25505572G>A	(Likely) benign	1 lab	224c187fe8
19:38964215 RYR1 G>T	19	38964215	38964215	G	T	RYR1	c.3964G>T	NM_000540.3	NP_000531.2:p.(Ala1322Ser)	NC_000019.9:g.38964215G>T	VUS	1 lab	224d33e313
17:48703664 CACNA1G T>C	17	48703664	48703664	T	C	CACNA1G	c.6686T>C	NM_018896.5	NP_061496.2:p.(Leu2229Pro)	NC_000017.10:g.48703664T>C	VUS	1 lab	224ddb4015
7:92734381 SAMD9 G>A	7	92734381	92734381	G	A	SAMD9	c.1030C>T	NM_017654.4	NP_060124.2:p.(Arg344Ter)	NC_000007.13:g.92734381G>A	(Likely) pathogenic	1 lab	224ddf8fd2
9:35560427 RUSC2 C>T	9	35560427	35560427	C	T	RUSC2	c.3790C>T	NM_014806.5	NP_055621.2:p.(Arg1264Ter)	NC_000009.11:g.35560427C>T	(Likely) pathogenic	1 lab	224e8a4856
16:31336701 ITGAM C>A	16	31336701	31336701	C	A	ITGAM	c.2484C>A	NM_001145808.2	NP_001139280.1:p.(Ser828=)	NC_000016.9:g.31336701C>A	(Likely) benign	1 lab	1be253fe77
15:65447358 CLPX T>C	15	65447358	65447358	T	C	CLPX	c.1373A>G	NM_006660.5	NP_006651.2:p.(Asp458Gly)	NC_000015.9:g.65447358T>C	VUS	1 lab	22519faf03
16:2153767 PKD1 A>G	16	2153767	2153767	A	G	PKD1	c.8291T>C	NM_001009944.3	NP_001009944.3:p.(Met2764Thr)	NC_000016.9:g.2153767A>G	VUS	1 lab	22535f480a
19:18900886 COMP C>T	19	18900886	18900886	C	T	COMP	c.255G>A	NM_000095.3	NP_000086.2:p.(Val85=)	NC_000019.9:g.18900886C>T	(Likely) benign	1 lab	225611da11
17:47732772 SPOP C>CA	17	47732772	47732773	C	CA	SPOP	c.-67+22522_-67+22523insT	NM_001007228.2	NP_001007229.1:p.?	NC_000017.10:g.47732772_47732773insA	(Likely) benign	1 lab	2256645b43
14:65234008 SPTB G>A	14	65234008	65234008	G	A	SPTB	c.6269+13C>T	NM_001024858.3	NP_001020029.1:p.?	NC_000014.8:g.65234008G>A	(Likely) benign	1 lab	1be3343af0
7:114329974 FOXP2 T>C	7	114329974	114329974	T	C	FOXP2	c.2141T>C	NM_014491.4	NP_055306.1:p.(Leu714Pro)	NC_000007.13:g.114329974T>C	VUS	1 lab	2256c1fb9c
14:105179345 INF2 G>A	14	105179345	105179345	G	A	INF2	c.2775+16G>A	NM_022489.3	NP_071934.3:p.?	NC_000014.8:g.105179345G>A	(Likely) benign	1 lab	1be33fd533
8:28600596 EXTL3 C>G	8	28600596	28600596	C	G	EXTL3	c.2422-7C>G	NM_001440.4	NP_001431.1:p.?	NC_000008.10:g.28600596C>G	VUS	1 lab	2259b51781
19:11344019 DOCK6 C>A	19	11344019	11344019	C	A	DOCK6	c.2578G>T	NM_020812.4	NP_065863.2:p.(Ala860Ser)	NC_000019.9:g.11344019C>A	(Likely) benign	1 lab	2259bda282
2:219255993 SLC11A1 G>A	2	219255993	219255993	G	A	SLC11A1	c.1027G>A	NM_000578.4	NP_000569.3:p.(Val343Met)	NC_000002.11:g.219255993G>A	VUS	1 lab	225a4b1dff
8:22033809 BMP1 T>C	8	22033809	22033809	T	C	BMP1	c.416T>C	NM_006129.5	NP_006120.1:p.(Ile139Thr)	NC_000008.10:g.22033809T>C	VUS	1 lab	225a76a8a3
11:124791114 HEPACAM C>A	11	124791114	124791114	C	A	HEPACAM	c.1171G>T	NM_152722.5	NP_689935.2:p.(Ala391Ser)	NC_000011.9:g.124791114C>A	VUS	1 lab	225b3db463
4:661679 PDE6B T>C	4	661679	661679	T	C	PDE6B	c.2387T>C	NM_000283.4	NP_000274.3:p.(Met796Thr)	NC_000004.11:g.661679T>C	VUS	1 lab	225c81cd1c
19:5711968 LONP1 C>G	19	5711968	5711968	C	G	LONP1	c.684G>C	NM_004793.4	NP_004784.2:p.(Glu228Asp)	NC_000019.9:g.5711968C>G	(Likely) benign	1 lab	225d30d287
15:45880001 BLOC1S6 C>T	15	45880001	45880001	C	T	BLOC1S6	c.82+278C>T	NM_012388.4	NP_036520.1:p.?	NC_000015.9:g.45880001C>T	(Likely) benign	1 lab	22606a25ff
18:32833656 ZSCAN30 A>G	18	32833656	32833656	A	G	ZSCAN30	c.1243T>C	NM_001112734.4	NP_001106205.1:p.(Cys415Arg)	NC_000018.9:g.32833656A>G	VUS	1 lab	2260ede78f
9:131398608 DYNC2I2 C>T	9	131398608	131398608	C	T	DYNC2I2	c.655G>A	NM_052844.4	NP_443076.2:p.(Ala219Thr)	NC_000009.11:g.131398608C>T	VUS	1 lab	22633f6c86
4:73414418 ADAMTS3 C>T	4	73414418	73414418	C	T	ADAMTS3	c.281G>A	NM_014243.3	NP_055058.2:p.(Arg94Gln)	NC_000004.11:g.73414418C>T	VUS	1 lab	2265180594
12:111785422 CUX2 T>TGCC	12	111785422	111785423	T	TGCC	CUX2	c.3754_3755insGCC	NM_015267.4	NP_056082.2:p.(Ser1252delinsCysPro)	NC_000012.11:g.111785422_111785423insGCC	(Likely) benign	1 lab	226728ce5a
7:26412188 SNX10 C>T	7	26412188	26412188	C	T	SNX10	c.602C>T	NM_013322.3	NP_037454.2:p.(Ser201Phe)	NC_000007.13:g.26412188C>T	(Likely) benign	1 lab	226840b49c
1:27876981 AHDC1 C>T	1	27876981	27876981	C	T	AHDC1	c.1646G>A	NM_001371928.1	NP_001358857.1:p.(Arg549His)	NC_000001.10:g.27876981C>T	VUS	1 lab	22691d6025
6:24503597 ALDH5A1 C>T	6	24503597	24503597	C	T	ALDH5A1	c.545C>T	NM_001080.3	NP_001071.1:p.(Pro182Leu)	NC_000006.11:g.24503597C>T	(Likely) benign	1 lab	226a350075
18:19751288 GATA6 G>A	18	19751288	19751288	G	A	GATA6	c.183G>A	NM_005257.6	NP_005248.2:p.(Gly61=)	NC_000018.9:g.19751288G>A	(Likely) benign	1 lab	226b8d5299
19:3522946 FZR1 C>T	19	3522946	3522946	C	T	FZR1	c.-34-8C>T	NM_016263.4	NP_057347.2:p.?	NC_000019.9:g.3522946C>T	(Likely) benign	1 lab	226c73fa21
14:50089100 MGAT2 A>C	14	50089100	50089100	A	C	MGAT2	c.1114A>C	NM_002408.4	NP_002399.1:p.(Ile372Leu)	NC_000014.8:g.50089100A>C	VUS	1 lab	226d92bbc8
22:40719339 TNRC6B T>C	22	40719339	40719339	T	C	TNRC6B	c.*94T>C	NM_001162501.2	NP_001155973.1:p.?	NC_000022.10:g.40719339T>C	VUS	1 lab	226f3b34eb
15:89398712 ACAN T>A	15	89398712	89398712	T	A	ACAN	c.2896T>A	NM_001369268.1	NP_001356197.1:p.(Ser966Thr)	NC_000015.9:g.89398712T>A	(Likely) benign	1 lab	226fe19832
14:75483904 MLH3 T>TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	14	75483904	75483941	T	TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	MLH3	c.4243-37_4243-1dup	NM_001040108.2	NP_001035197.1:p.?	NC_000014.8:g.75483905_75483941dup	(Likely) benign	1 lab	2272094e59
2:20205602 MATN3 C>G	2	20205602	20205602	C	G	MATN3	c.693G>C	NM_002381.5	NP_002372.1:p.(Lys231Asn)	NC_000002.11:g.20205602C>G	(Likely) benign	1 lab	2272d7726f
10:27306447 ANKRD26 A>T	10	27306447	27306447	A	T	ANKRD26	c.4490T>A	NM_014915.3	NP_055730.2:p.(Val1497Asp)	NC_000010.10:g.27306447A>T	(Likely) benign	1 lab	2273662910
15:89390622 ACAN C>T	15	89390622	89390622	C	T	ACAN	c.1578C>T	NM_001369268.1	NP_001356197.1:p.(Ala526=)	NC_000015.9:g.89390622C>T	(Likely) benign	1 lab	227380eb0a
4:6302768 WFS1 A>G	4	6302768	6302768	A	G	WFS1	c.1246A>G	NM_006005.3	NP_005996.2:p.(Ile416Val)	NC_000004.11:g.6302768A>G	VUS	1 lab	22738300c2
4:79461677 FRAS1 C>T	4	79461677	79461677	C	T	FRAS1	c.11446-8C>T	NM_025074.7	NP_079350.5:p.?	NC_000004.11:g.79461677C>T	(Likely) benign	1 lab	2273d096f1
7:151052846 NUB1 T>A	7	151052846	151052846	T	A	NUB1	c.416-8T>A	NM_001243351.2	NP_001230280.2:p.?	NC_000007.13:g.151052846T>A	(Likely) benign	1 lab	22740311fe
1:44057074 PTPRF G>A	1	44057074	44057074	G	A	PTPRF	c.1381G>A	NM_002840.5	NP_002831.2:p.(Ala461Thr)	NC_000001.10:g.44057074G>A	VUS	1 lab	22756409c1
16:89805693 FANCA G>A	16	89805693	89805693	G	A	FANCA	c.4015C>T	NM_000135.4	NP_000126.2:p.(Leu1339Phe)	NC_000016.9:g.89805693G>A	VUS	1 lab	2275789af5
1:46027471 AKR1A1 C>T	1	46027471	46027471	C	T	AKR1A1	c.5C>T	NM_153326.3	NP_697021.1:p.(Ala2Val)	NC_000001.10:g.46027471C>T	(Likely) benign	1 lab	2277d8d757
8:7706370 SPAG11A G>T	8	7706370	7706370	G	T	SPAG11A	c.214+5G>T	NM_001395484.1	NP_001382413.1:p.?	NC_000008.10:g.7706370G>T	VUS	1 lab	227c654c16
2:1946770 MYT1L TTCCTCCTCC>T	2	1946770	1946793	TTCCTCCTCC	T	MYT1L	c.480_488del	NM_001303052.2	NP_001289981.1:p.(Glu165_Glu167del)	NC_000002.11:g.1946785_1946793del	VUS	1 lab	227d9aae58
2:169847317 ABCB11 A>G	2	169847317	169847317	A	G	ABCB11	c.902T>C	NM_003742.4	NP_003733.2:p.(Val301Ala)	NC_000002.11:g.169847317A>G	(Likely) benign	1 lab	227dfd6c4f
6:148761368 SASH1 G>A	6	148761368	148761368	G	A	SASH1	c.334G>A	NM_015278.5	NP_056093.3:p.(Glu112Lys)	NC_000006.11:g.148761368G>A	VUS	1 lab	227e60ba00
1:154226392 UBAP2L A>G	1	154226392	154226392	A	G	UBAP2L	c.1681A>G	NM_014847.4	NP_055662.3:p.(Ile561Val)	NC_000001.10:g.154226392A>G	VUS	1 lab	227fd8e42e
6:37429872 CMTR1 C>CA	6	37429872	37429873	C	CA	CMTR1	c.1320dup	NM_015050.3	NP_055865.1:p.(Glu441ArgfsTer15)	NC_000006.11:g.37429873dup	VUS	1 lab	2281950765
5:126774225 MEGF10 C>T	5	126774225	126774225	C	T	MEGF10	c.2199C>T	NM_001256545.2	NP_001243474.1:p.(Cys733=)	NC_000005.9:g.126774225C>T	(Likely) benign	1 lab	2282002626
X:103359845 SLC25A53 G>A	X	103359845	103359845	G	A	SLC25A53	c.-31-9874C>T	NM_001012755.5	NP_001012773.2:p.?	NC_000023.10:g.103359845G>A	(Likely) benign	1 lab	228263c6f0
7:48315129 ABCA13 A>G	7	48315129	48315129	A	G	ABCA13	c.5866A>G	NM_152701.5	NP_689914.3:p.(Ile1956Val)	NC_000007.13:g.48315129A>G	(Likely) benign	1 lab	2282dd9bb6
17:78328268 RNF213 G>A	17	78328268	78328268	G	A	RNF213	c.10754G>A	NM_001256071.3	NP_001243000.2:p.(Arg3585His)	NC_000017.10:g.78328268G>A	VUS	1 lab	2282e292a9
9:131016966 DNM1 G>C	9	131016966	131016966	G	C	DNM1	c.2568G>C	NM_004408.4	NP_004399.2:p.(Glu856Asp)	NC_000009.11:g.131016966G>C	VUS	1 lab	2286262959
6:107956015 SOBP T>G	6	107956015	107956015	T	G	SOBP	c.1967T>G	NM_018013.4	NP_060483.3:p.(Leu656Arg)	NC_000006.11:g.107956015T>G	VUS	1 lab	228641e25d
1:27106896 ARID1A A>G	1	27106896	27106896	A	G	ARID1A	c.6507A>G	NM_006015.6	NP_006006.3:p.(Val2169=)	NC_000001.10:g.27106896A>G	(Likely) benign	1 lab	2287367daf
2:152354132 NEB C>CAAAGT	2	152354132	152354138	C	CAAAGT	NEB	c.24300+3_24300+7dup	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152354134_152354138dup	VUS	1 lab	228892597d
3:64640296 ADAMTS9 C>G	3	64640296	64640296	C	G	ADAMTS9	c.1170-8G>C	NM_182920.2	NP_891550.1:p.?	NC_000003.11:g.64640296C>G	(Likely) benign	1 lab	2288fe833e
19:8140251 FBN3 C>T	19	8140251	8140251	C	T	FBN3	c.7498G>A	NM_032447.5	NP_115823.3:p.(Gly2500Arg)	NC_000019.9:g.8140251C>T	VUS	1 lab	228a98bd9d
12:49445536 KMT2D T>G	12	49445536	49445536	T	G	KMT2D	c.1930A>C	NM_003482.4	NP_003473.3:p.(Met644Leu)	NC_000012.11:g.49445536T>G	VUS	1 lab	228b5a2b89
11:17483217 ABCC8 G>A	11	17483217	17483217	G	A	ABCC8	c.735C>T	NM_000352.6	NP_000343.2:p.(Ile245=)	NC_000011.9:g.17483217G>A	(Likely) benign	1 lab	228bea000a
7:16445844 CRPPA G>A	7	16445844	16445844	G	A	CRPPA	c.376C>T	NM_001101426.4	NP_001094896.1:p.(Arg126Cys)	NC_000007.13:g.16445844G>A	VUS	1 lab	228cc025a0
1:45974609 MMACHC G>T	1	45974609	45974609	G	T	MMACHC	c.571G>T	NM_015506.3	NP_056321.2:p.(Ala191Ser)	NC_000001.10:g.45974609G>T	(Likely) benign	1 lab	228d313314
X:135863020 ARHGEF6 C>T	X	135863020	135863020	C	T	ARHGEF6	c.22G>A	NM_004840.3	NP_004831.1:p.(Val8Met)	NC_000023.10:g.135863020C>T	VUS	1 lab	228da1cb0b
6:137814840 OLIG3 G>C	6	137814840	137814840	G	C	OLIG3	c.468C>G	NM_175747.2	NP_786923.1:p.(His156Gln)	NC_000006.11:g.137814840G>C	VUS	1 lab	228e1aa7b1
6:35434010 FANCE C>T	6	35434010	35434010	C	T	FANCE	c.1510-11C>T	NM_021922.2	NP_068741.1:p.?	NC_000006.11:g.35434010C>T	(Likely) benign	1 lab	1be591ae3c
1:1262302 CPTP G>A	1	1262302	1262302	G	A	CPTP	c.12G>A	NM_001029885.2	NP_001025056.1:p.(Ser4=)	NC_000001.10:g.1262302G>A	VUS	1 lab	228ebcb826
12:125455843 DHX37 G>A	12	125455843	125455843	G	A	DHX37	c.1191+5C>T	NM_032656.4	NP_116045.2:p.?	NC_000012.11:g.125455843G>A	VUS	1 lab	228fad4016
20:43048514 HNF4A C>T	20	43048514	43048514	C	T	HNF4A	c.890C>T	NM_000457.5	NP_000448.3:p.(Pro297Leu)	NC_000020.10:g.43048514C>T	(Likely) pathogenic	1 lab	2291b1bb49
11:45967545 PHF21A G>A	11	45967545	45967545	G	A	PHF21A	c.1298C>T	NM_001352027.3	NP_001338956.1:p.(Pro433Leu)	NC_000011.9:g.45967545G>A	(Likely) benign	1 lab	22924f999b
11:69625471 FGF3 G>A	11	69625471	69625471	G	A	FGF3	c.325-3C>T	NM_005247.4	NP_005238.1:p.?	NC_000011.9:g.69625471G>A	(Likely) benign	1 lab	22933f6d36
X:48970657 GPKOW G>A	X	48970657	48970657	G	A	GPKOW	c.1333C>T	NM_015698.6	NP_056513.2:p.(Arg445Trp)	NC_000023.10:g.48970657G>A	VUS	1 lab	22963687ba
7:153750023 DPP6 G>A	7	153750023	153750023	G	A	DPP6	c.118G>A	NM_130797.4	NP_570629.2:p.(Gly40Arg)	NC_000007.13:g.153750023G>A	VUS	1 lab	2298446d23
7:100246368 ACTL6B G>A	7	100246368	100246368	G	A	ACTL6B	c.546C>T	NM_016188.5	NP_057272.1:p.(Gly182=)	NC_000007.13:g.100246368G>A	VUS	1 lab	2298cc08a9
X:63413032 AMER1 G>A	X	63413032	63413032	G	A	AMER1	c.135C>T	NM_152424.4	NP_689637.3:p.(Ser45=)	NC_000023.10:g.63413032G>A	(Likely) benign	1 lab	2299f0dba5
7:30639646 GARS1 A>T	7	30639646	30639646	A	T	GARS1	c.408A>T	NM_002047.4	NP_002038.2:p.(Gln136His)	NC_000007.13:g.30639646A>T	VUS	1 lab	229a12da36
15:101717699 CHSY1 G>A	15	101717699	101717699	G	A	CHSY1	c.2303C>T	NM_014918.5	NP_055733.2:p.(Ala768Val)	NC_000015.9:g.101717699G>A	VUS	1 lab	229af58fbe
1:43221214 P3H1 C>T	1	43221214	43221214	C	T	P3H1	c.1170+5G>A	NM_022356.4	NP_071751.3:p.?	NC_000001.10:g.43221214C>T	VUS	1 lab	229bb62140
22:30934886 SEC14L6 G>A	22	30934886	30934886	G	A	SEC14L6	c.58C>T	NM_001193336.4	NP_001180265.2:p.(Arg20Trp)	NC_000022.10:g.30934886G>A	(Likely) benign	1 lab	229cd16c64
15:89401356 ACAN A>T	15	89401356	89401356	A	T	ACAN	c.5540A>T	NM_001369268.1	NP_001356197.1:p.(Glu1847Val)	NC_000015.9:g.89401356A>T	VUS	1 lab	229d3111e3
2:1497603 TPO C>G	2	1497603	1497603	C	G	TPO	c.1798C>G	NM_001206744.2	NP_001193673.1:p.(Leu600Val)	NC_000002.11:g.1497603C>G	VUS	1 lab	229dbec9f8
5:79950750 DHFR T>G	5	79950750	79950750	T	G	DHFR	c.-442A>C	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950750T>G	(Likely) benign	1 lab	229eb92c27
7:151982836 KMT2C A>G	7	151982836	151982836	A	G	KMT2C	c.850-11884T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151982836A>G	(Likely) benign	1 lab	229f3b7490
13:52509750 ATP7B A>G	13	52509750	52509750	A	G	ATP7B	c.4103T>C	NM_000053.4	NP_000044.2:p.(Leu1368Pro)	NC_000013.10:g.52509750A>G	VUS	1 lab	1be5fa41d8
6:32118278 PRRT1 T>G	6	32118278	32118278	T	G	PRRT1	c.425A>C	NM_030651.4	NP_085154.3:p.(Gln142Pro)	NC_000006.11:g.32118278T>G	(Likely) benign	1 lab	22a11b9f3a
2:55460017 RPS27A C>T	2	55460017	55460017	C	T	RPS27A	c.48+9C>T	NM_002954.6	NP_002945.1:p.?	NC_000002.11:g.55460017C>T	(Likely) benign	1 lab	22a185ade3
16:89261345 CDH15 G>A	16	89261345	89261345	G	A	CDH15	c.2227G>A	NM_004933.3	NP_004924.1:p.(Gly743Ser)	NC_000016.9:g.89261345G>A	(Likely) benign	1 lab	22a1a2b059
20:33588943 MYH7B G>A	20	33588943	33588943	G	A	MYH7B	c.5457G>A	NM_020884.7	NP_065935.4:p.(Val1819=)	NC_000020.10:g.33588943G>A	VUS	1 lab	22a3348c8d
X:78216686 P2RY10 A>G	X	78216686	78216686	A	G	P2RY10	c.669A>G	NM_014499.4	NP_055314.1:p.(Ile223Met)	NC_000023.10:g.78216686A>G	VUS	1 lab	22a347b34b
19:49675366 TRPM4 G>A	19	49675366	49675366	G	A	TRPM4	c.1150+1G>A	NM_017636.4	NP_060106.2:p.?	NC_000019.9:g.49675366G>A	VUS	1 lab	22a5af5b1a
18:20815933 CABLES1 C>T	18	20815933	20815933	C	T	CABLES1	c.1260C>T	NM_001100619.3	NP_001094089.1:p.(Ser420=)	NC_000018.9:g.20815933C>T	VUS	1 lab	22a7824dae
1:229567765 ACTA1 T>G	1	229567765	229567765	T	G	ACTA1	c.784A>C	NM_001100.4	NP_001091.1:p.(Thr262Pro)	NC_000001.10:g.229567765T>G	VUS	1 lab	22aa250194
1:212960924 NSL1 T>C	1	212960924	212960924	T	C	NSL1	c.290A>G	NM_015471.4	NP_056286.3:p.(Glu97Gly)	NC_000001.10:g.212960924T>C	VUS	1 lab	22aace9c89
13:101795499 NALCN T>A	13	101795499	101795499	T	A	NALCN	c.2050A>T	NM_052867.4	NP_443099.1:p.(Thr684Ser)	NC_000013.10:g.101795499T>A	VUS	1 lab	22ae020298
6:12292567 EDN1 T>C	6	12292567	12292567	T	C	EDN1	c.65-7T>C	NM_001955.5	NP_001946.3:p.?	NC_000006.11:g.12292567T>C	(Likely) benign	1 lab	22ae5ebf0b
6:157511222 ARID1B C>T	6	157511222	157511222	C	T	ARID1B	c.4109C>T	NM_001374828.1	NP_001361757.1:p.(Ser1370Phe)	NC_000006.11:g.157511222C>T	(Likely) benign	1 lab	22ae6eafdb
17:1638961 WDR81 A>G	17	1638961	1638961	A	G	WDR81	c.5275A>G	NM_001163809.2	NP_001157281.1:p.(Ser1759Gly)	NC_000017.10:g.1638961A>G	VUS	1 lab	22af517156
4:139162969 SLC7A11 C>T	4	139162969	139162969	C	T	SLC7A11	c.255G>A	NM_014331.4	NP_055146.1:p.(Val85=)	NC_000004.11:g.139162969C>T	(Likely) benign	1 lab	22b08bbf36
2:225346773 CUL3 A>G	2	225346773	225346773	A	G	CUL3	c.1865T>C	NM_003590.5	NP_003581.1:p.(Ile622Thr)	NC_000002.11:g.225346773A>G	VUS	1 lab	22b18d9ef7
7:6838871 CCZ1B A>T	7	6838871	6838871	A	T	CCZ1B	c.1433T>A	NM_198097.5	NP_932765.1:p.(Ile478Asn)	NC_000007.13:g.6838871A>T	VUS	1 lab	22b24e6631
2:98341728 ZAP70 C>G	2	98341728	98341728	C	G	ZAP70	c.563+13C>G	NM_001079.3	NP_001070.2:p.?	NC_000002.11:g.98341728C>G	(Likely) benign	1 lab	1be93ae81a
21:47845737 PCNT C>T	21	47845737	47845737	C	T	PCNT	c.7180-8C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47845737C>T	(Likely) benign	1 lab	22b54466f2
2:179467062 TTN C>T	2	179467062	179467062	C	T	TTN	c.55067G>A	NM_001267550.2	NP_001254479.2:p.(Gly18356Asp)	NC_000002.11:g.179467062C>T	VUS	1 lab	22b596658b
4:5733240 EVC C>G	4	5733240	5733240	C	G	EVC	c.473C>G	NM_153717.3	NP_714928.1:p.(Ser158Cys)	NC_000004.11:g.5733240C>G	(Likely) benign	1 lab	22b5b685d0
8:116632236 TRPS1 T>G	8	116632236	116632236	T	G	TRPS1	c.89A>C	NM_014112.5	NP_054831.2:p.(Glu30Ala)	NC_000008.10:g.116632236T>G	(Likely) benign	1 lab	22b647ecfd
2:25469162 DNMT3A G>C	2	25469162	25469162	G	C	DNMT3A	c.1296C>G	NM_022552.5	NP_072046.2:p.(Tyr432Ter)	NC_000002.11:g.25469162G>C	VUS	1 lab	22b922db1f
5:41160334 C6 G>A	5	41160334	41160334	G	A	C6	c.1594C>T	NM_000065.5	NP_000056.2:p.(Pro532Ser)	NC_000005.9:g.41160334G>A	VUS	1 lab	22bb535d00
1:114483126 HIPK1 A>C	1	114483126	114483126	A	C	HIPK1	c.121A>C	NM_198268.3	NP_938009.1:p.(Lys41Gln)	NC_000001.10:g.114483126A>C	VUS	1 lab	22bb5f77dd
5:147510853 SPINK5 T>G	5	147510853	147510853	T	G	SPINK5	c.2996T>G	NM_006846.4	NP_006837.2:p.(Leu999Trp)	NC_000005.9:g.147510853T>G	(Likely) benign	1 lab	22bdf33430
14:57938165 CCDC198 C>T	14	57938165	57938165	C	T	CCDC198	c.799G>A	NM_018168.4	NP_060638.2:p.(Glu267Lys)	NC_000014.8:g.57938165C>T	(Likely) benign	1 lab	22bf851328
12:53453358 TNS2 C>T	12	53453358	53453358	C	T	TNS2	c.1933C>T	NM_170754.4	NP_736610.2:p.(Arg645Ter)	NC_000012.11:g.53453358C>T	VUS	1 lab	22bfda2c38
12:121712392 CAMKK2 C>A	12	121712392	121712392	C	A	CAMKK2	c.-59-4G>T	NM_001270485.2	NP_001257414.1:p.?	NC_000012.11:g.121712392C>A	(Likely) benign	1 lab	22c10b2728
7:73472007 ELN C>T	7	73472007	73472007	C	T	ELN	c.1395C>T	NM_000501.4	NP_000492.2:p.(Ala465=)	NC_000007.13:g.73472007C>T	(Likely) benign	1 lab	22c14a8e5d
19:6495923 TUBB4A G>C	19	6495923	6495923	G	C	TUBB4A	c.587C>G	NM_006087.4	NP_006078.2:p.(Thr196Arg)	NC_000019.9:g.6495923G>C	VUS	1 lab	22c3854e6c
16:49671964 ZNF423 T>C	16	49671964	49671964	T	C	ZNF423	c.1123A>G	NM_001379286.1	NP_001366215.1:p.(Met375Val)	NC_000016.9:g.49671964T>C	VUS	1 lab	22c456fd63
2:100210334 AFF3 CG>C	2	100210334	100210336	CG	C	AFF3	c.1788del	NM_001386135.1	NP_001373064.1:p.(Asp598ThrfsTer48)	NC_000002.11:g.100210336del	(Likely) benign	1 lab	22c563bb89
7:100033295 PPP1R35 A>C	7	100033295	100033295	A	C	PPP1R35	c.547T>G	NM_145030.4	NP_659467.1:p.(Leu183Val)	NC_000007.13:g.100033295A>C	VUS	1 lab	22c63781c0
1:170688935 PRRX1 A>G	1	170688935	170688935	A	G	PRRX1	c.310A>G	NM_022716.4	NP_073207.1:p.(Ser104Gly)	NC_000001.10:g.170688935A>G	(Likely) benign	1 lab	22c6ddcb0f
1:204083452 SOX13 T>A	1	204083452	204083452	T	A	SOX13	c.223T>A	NM_005686.3	NP_005677.2:p.(Cys75Ser)	NC_000001.10:g.204083452T>A	VUS	1 lab	22c7e8c7ef
7:6026681 PMS2 G>A	7	6026681	6026681	G	A	PMS2	c.1715C>T	NM_000535.7	NP_000526.2:p.(Ala572Val)	NC_000007.13:g.6026681G>A	(Likely) benign	1 lab	22c808c056
11:134048592 NCAPD3 G>T	11	134048592	134048592	G	T	NCAPD3	c.2719C>A	NM_015261.3	NP_056076.1:p.(Pro907Thr)	NC_000011.9:g.134048592G>T	(Likely) benign	1 lab	22c9544bdb
1:120612014 NOTCH2 C>A	1	120612014	120612014	C	A	NOTCH2	c.7G>T	NM_024408.4	NP_077719.2:p.(Ala3Ser)	NC_000001.10:g.120612014C>A	(Likely) benign	1 lab	22cb433e43
3:48637960 UQCRC1 G>A	3	48637960	48637960	G	A	UQCRC1	c.1168C>T	NM_003365.3	NP_003356.2:p.(Arg390Trp)	NC_000003.11:g.48637960G>A	VUS	1 lab	22cbdbef38
6:51524015 PKHD1 G>A	6	51524015	51524015	G	A	PKHD1	c.10909C>T	NM_138694.4	NP_619639.3:p.(Arg3637Cys)	NC_000006.11:g.51524015G>A	VUS	1 lab	22cc9e7b30
6:1612033 FOXC1 C>CGGT	6	1612033	1612036	C	CGGT	FOXC1	c.1355_1356insTGG	NM_001453.3	NP_001444.2:p.(Gly456dup)	NC_000006.11:g.1612035_1612036insTGG	(Likely) benign	1 lab	22cd909e15
1:44087628 PTPRF G>A	1	44087628	44087628	G	A	PTPRF	c.5678G>A	NM_002840.5	NP_002831.2:p.(Arg1893His)	NC_000001.10:g.44087628G>A	VUS	1 lab	22cdc8f2bb
11:64375339 NRXN2 T>C	11	64375339	64375339	T	C	NRXN2	c.4468A>G	NM_015080.4	NP_055895.1:p.(Ile1490Val)	NC_000011.9:g.64375339T>C	(Likely) benign	1 lab	22cdf9ce17
6:31931768 SKIC2 C>T	6	31931768	31931768	C	T	SKIC2	c.1726C>T	NM_006929.5	NP_008860.4:p.(Arg576Trp)	NC_000006.11:g.31931768C>T	VUS	1 lab	22ce6cc837
16:53730149 RPGRIP1L C>G	16	53730149	53730149	C	G	RPGRIP1L	c.144G>C	NM_015272.5	NP_056087.2:p.(Glu48Asp)	NC_000016.9:g.53730149C>G	VUS	1 lab	22cf3cee76
X:149814262 MTM1 A>C	X	149814262	149814262	A	C	MTM1	c.785A>C	NM_000252.3	NP_000243.1:p.(Asp262Ala)	NC_000023.10:g.149814262A>C	VUS	1 lab	22d1ff50eb
5:65344599 ERBIN TAAC>T	5	65344599	65344604	TAAC	T	ERBIN	c.1896_1898del	NM_001253697.2	NP_001240626.1:p.(Asn632del)	NC_000005.9:g.65344602_65344604del	VUS	1 lab	22d292455d
16:12618589 SNX29 C>G	16	12618589	12618589	C	G	SNX29	c.2209C>G	NM_032167.5	NP_115543.3:p.(Gln737Glu)	NC_000016.9:g.12618589C>G	(Likely) benign	1 lab	22d4e7d5b3
6:108395700 OSTM1 C>G	6	108395700	108395700	C	G	OSTM1	c.156G>C	NM_014028.4	NP_054747.2:p.(Leu52Phe)	NC_000006.11:g.108395700C>G	(Likely) benign	1 lab	22d54f742e
4:42554591 ATP8A1 T>A	4	42554591	42554591	T	A	ATP8A1	c.1450A>T	NM_006095.2	NP_006086.1:p.(Met484Leu)	NC_000004.11:g.42554591T>A	VUS	1 lab	22d68ef56a
19:8368953 CD320 C>T	19	8368953	8368953	C	T	CD320	c.288G>A	NM_016579.4	NP_057663.1:p.(Gln96=)	NC_000019.9:g.8368953C>T	VUS	1 lab	22d6bee874
5:40765294 PRKAA1 C>G	5	40765294	40765294	C	G	PRKAA1	c.868G>C	NM_006251.6	NP_006242.5:p.(Glu290Gln)	NC_000005.9:g.40765294C>G	VUS	1 lab	22d743a567
5:74754910 CERT1 C>A	5	74754910	74754910	C	A	CERT1	c.328G>T	NM_001379029.1	NP_001365958.1:p.(Asp110Tyr)	NC_000005.9:g.74754910C>A	VUS	1 lab	22d7cad875
16:81129837 GCSH A>G	16	81129837	81129837	A	G	GCSH	c.47T>C	NM_004483.5	NP_004474.2:p.(Leu16Pro)	NC_000016.9:g.81129837A>G	VUS	1 lab	22d846f6b3
19:1037810 CNN2 G>C	19	1037810	1037810	G	C	CNN2	c.841G>C	NM_004368.4	NP_004359.1:p.(Asp281His)	NC_000019.9:g.1037810G>C	(Likely) benign	1 lab	22d88b4ec4
X:48760636 SLC35A2 A>G	X	48760636	48760636	A	G	SLC35A2	c.*79T>C	NM_005660.3	NP_005651.1:p.?	NC_000023.10:g.48760636A>G	(Likely) benign	1 lab	1bb023231a
12:49230537 DDX23 G>A	12	49230537	49230537	G	A	DDX23	c.1051C>T	NM_004818.3	NP_004809.2:p.(Arg351Cys)	NC_000012.11:g.49230537G>A	VUS	1 lab	22d9e48dfb
12:23998751 SOX5 G>A	12	23998751	23998751	G	A	SOX5	c.481+166C>T	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.23998751G>A	(Likely) benign	1 lab	22dad234bd
15:28566610 HERC2 C>T	15	28566610	28566610	C	T	HERC2	c.-31G>A	NM_004667.6	NP_004658.3:p.?	NC_000015.9:g.28566610C>T	(Likely) benign	1 lab	22db0ff58d
10:97396933 ALDH18A1 G>A	10	97396933	97396933	G	A	ALDH18A1	c.475C>T	NM_002860.4	NP_002851.2:p.(Arg159Ter)	NC_000010.10:g.97396933G>A	VUS	1 lab	22db106fec
4:5624370 EVC2 C>G	4	5624370	5624370	C	G	EVC2	c.2395G>C	NM_147127.5	NP_667338.3:p.(Asp799His)	NC_000004.11:g.5624370C>G	(Likely) benign	1 lab	22db8a5dad
19:13397413 CACNA1A G>C	19	13397413	13397413	G	C	CACNA1A	c.3457C>G	NM_001127222.2	NP_001120694.1:p.(Gln1153Glu)	NC_000019.9:g.13397413G>C	(Likely) benign	1 lab	22dbf94147
1:205132115 DSTYK T>C	1	205132115	205132115	T	C	DSTYK	c.1577A>G	NM_015375.3	NP_056190.1:p.(His526Arg)	NC_000001.10:g.205132115T>C	VUS	1 lab	22e91bef90
15:42984722 STARD9 G>A	15	42984722	42984722	G	A	STARD9	c.10946G>A	NM_020759.3	NP_065810.2:p.(Arg3649His)	NC_000015.9:g.42984722G>A	(Likely) benign	1 lab	22dc99bafb
1:228562042 OBSCN A>G	1	228562042	228562042	A	G	OBSCN	c.25283A>G	NM_001386125.1	NP_001373054.1:p.(Asp8428Gly)	NC_000001.10:g.228562042A>G	VUS	1 lab	22dd240396
X:53607908 HUWE1 T>C	X	53607908	53607908	T	C	HUWE1	c.5599A>G	NM_031407.7	NP_113584.3:p.(Ile1867Val)	NC_000023.10:g.53607908T>C	VUS	1 lab	22dd4b0c87
11:2797279 KCNQ1 G>T	11	2797279	2797279	G	T	KCNQ1	c.1680G>T	NM_000218.3	NP_000209.2:p.(Gln560His)	NC_000011.9:g.2797279G>T	VUS	1 lab	22df08eb93
22:24179066 DERL3 G>A	22	24179066	24179066	G	A	DERL3	c.698C>T	NM_001002862.3	NP_001002862.1:p.(Pro233Leu)	NC_000022.10:g.24179066G>A	(Likely) benign	1 lab	22dfe0ca06
10:92679030 ANKRD1 AAAAG>A	10	92679030	92679037	AAAAG	A	ANKRD1	c.208-9_208-6del	NM_014391.3	NP_055206.2:p.?	NC_000010.10:g.92679034_92679037del	VUS	1 lab	1beb6b1106
7:124499052 POT1 A>G	7	124499052	124499052	A	G	POT1	c.661T>C	NM_015450.3	NP_056265.2:p.(Leu221=)	NC_000007.13:g.124499052A>G	(Likely) benign	1 lab	22e2b9713d
2:86332845 POLR1A T>C	2	86332845	86332845	T	C	POLR1A	c.55A>G	NM_015425.6	NP_056240.2:p.(Met19Val)	NC_000002.11:g.86332845T>C	(Likely) benign	1 lab	22e5fbb775
9:139412395 NOTCH1 G>A	9	139412395	139412395	G	A	NOTCH1	c.1256-6C>T	NM_017617.5	NP_060087.3:p.?	NC_000009.11:g.139412395G>A	(Likely) benign	1 lab	22e60c86bd
20:6090979 FERMT1 G>C	20	6090979	6090979	G	C	FERMT1	c.712C>G	NM_017671.5	NP_060141.3:p.(Arg238Gly)	NC_000020.10:g.6090979G>C	VUS	1 lab	1bb2daba2c
9:127617939 WDR38 CCT>C	9	127617939	127617941	CCT	C	WDR38	c.218_219del	NM_001045476.3	NP_001038941.1:p.(Pro73ArgfsTer11)	NC_000009.11:g.127617940_127617941del	VUS	1 lab	22e6dd36ee
5:137688497 KDM3B G>A	5	137688497	137688497	G	A	KDM3B	c.13G>A	NM_016604.4	NP_057688.3:p.(Ala5Thr)	NC_000005.9:g.137688497G>A	VUS	1 lab	22e753b441
18:10758097 PIEZO2 G>C	18	10758097	10758097	G	C	PIEZO2	c.3793C>G	NM_001378183.1	NP_001365112.1:p.(Arg1265Gly)	NC_000018.9:g.10758097G>C	(Likely) benign	1 lab	22e8cd011e
4:5982019 C4orf50 C>G	4	5982019	5982019	C	G	C4orf50	c.3746G>C	NM_001364689.3	NP_001351618.1:p.(Arg1249Pro)	NC_000004.11:g.5982019C>G	(Likely) benign	1 lab	22ec91f739
1:170508549 GORAB G>A	1	170508549	170508549	G	A	GORAB	c.260G>A	NM_152281.3	NP_689494.3:p.(Ser87Asn)	NC_000001.10:g.170508549G>A	VUS	1 lab	22ed3ac980
16:72830369 ZFHX3 A>G	16	72830369	72830369	A	G	ZFHX3	c.6212T>C	NM_006885.4	NP_008816.3:p.(Ile2071Thr)	NC_000016.9:g.72830369A>G	VUS	1 lab	22edf3535c
2:1652029 PXDN C>A	2	1652029	1652029	C	A	PXDN	c.3523G>T	NM_012293.3	NP_036425.1:p.(Val1175Phe)	NC_000002.11:g.1652029C>A	VUS	1 lab	22efe9ef9b
6:29581202 GABBR1 C>T	6	29581202	29581202	C	T	GABBR1	c.1384G>A	NM_001470.4	NP_001461.1:p.(Gly462Arg)	NC_000006.11:g.29581202C>T	VUS	1 lab	22f016975b
17:56811684 RAD51C A>G	17	56811684	56811684	A	G	RAD51C	c.*101A>G	NM_058216.3	NP_478123.1:p.?	NC_000017.10:g.56811684A>G	(Likely) benign	1 lab	22f016b95a
X:54783785 ITIH6 T>G	X	54783785	54783785	T	G	ITIH6	c.2722A>C	NM_198510.3	NP_940912.1:p.(Ile908Leu)	NC_000023.10:g.54783785T>G	VUS	1 lab	22f0f71690
16:2168328 PKD1 G>T	16	2168328	2168328	G	T	PKD1	c.665C>A	NM_001009944.3	NP_001009944.3:p.(Ala222Glu)	NC_000016.9:g.2168328G>T	VUS	1 lab	22f127fdf4
7:31003691 GHRHR G>A	7	31003691	31003691	G	A	GHRHR	c.8G>A	NM_000823.4	NP_000814.2:p.(Arg3His)	NC_000007.13:g.31003691G>A	(Likely) benign	1 lab	22f1320a41
3:52366398 DNAH1 G>T	3	52366398	52366398	G	T	DNAH1	c.1274G>T	NM_015512.5	NP_056327.4:p.(Arg425Leu)	NC_000003.11:g.52366398G>T	(Likely) benign	1 lab	22f17a9ada
4:128819620 PLK4 A>G	4	128819620	128819620	A	G	PLK4	c.2837A>G	NM_014264.5	NP_055079.3:p.(Asp946Gly)	NC_000004.11:g.128819620A>G	(Likely) benign	1 lab	22f39d97a8
16:840351 CHTF18 G>A	16	840351	840351	G	A	CHTF18	c.704G>A	NM_022092.3	NP_071375.1:p.(Arg235Gln)	NC_000016.9:g.840351G>A	(Likely) benign	1 lab	22f406a737
17:30293149 SUZ12 CTTT>C	17	30293149	30293163	CTTT	C	SUZ12	c.456-5_456-3del	NM_015355.4	NP_056170.2:p.?	NC_000017.10:g.30293161_30293163del	(Likely) benign	1 lab	22f42eb865
1:182353608 GLUL T>C	1	182353608	182353608	T	C	GLUL	c.1054A>G	NM_001033044.4	NP_001028216.1:p.(Thr352Ala)	NC_000001.10:g.182353608T>C	VUS	1 lab	22f483dee1
20:62322217 RTEL1 G>A	20	62322217	62322217	G	A	RTEL1	c.2473G>A	NM_001283009.2	NP_001269938.1:p.(Val825Ile)	NC_000020.10:g.62322217G>A	VUS	1 lab	22f52fb47e
2:88874264 EIF2AK3 C>T	2	88874264	88874264	C	T	EIF2AK3	c.2737G>A	NM_004836.7	NP_004827.4:p.(Val913Met)	NC_000002.11:g.88874264C>T	(Likely) benign	1 lab	22f53c7a3b
2:179444744 TTN A>G	2	179444744	179444744	A	G	TTN	c.67270T>C	NM_001267550.2	NP_001254479.2:p.(Tyr22424His)	NC_000002.11:g.179444744A>G	VUS	1 lab	22f54a8b9b
4:119204127 PRSS12 T>C	4	119204127	119204127	T	C	PRSS12	c.2179A>G	NM_003619.4	NP_003610.2:p.(Ile727Val)	NC_000004.11:g.119204127T>C	VUS	1 lab	22f63d85a3
5:171849496 SH3PXD2B T>G	5	171849496	171849496	T	G	SH3PXD2B	c.80A>C	NM_001017995.3	NP_001017995.1:p.(Tyr27Ser)	NC_000005.9:g.171849496T>G	(Likely) benign	1 lab	22f6e2a03d
4:123255654 BLTP1 C>G	4	123255654	123255654	C	G	BLTP1	c.12066C>G	NM_001384125.1	NP_001371054.1:p.(Ser4022Arg)	NC_000004.11:g.123255654C>G	(Likely) benign	1 lab	22f76ceb88
7:151859509 KMT2C A>C	7	151859509	151859509	A	C	KMT2C	c.11153T>G	NM_170606.3	NP_733751.2:p.(Ile3718Arg)	NC_000007.13:g.151859509A>C	(Likely) benign	1 lab	22f8c428bd
14:66083858 FUT8 T>C	14	66083858	66083858	T	C	FUT8	c.482+767T>C	NM_001371533.1	NP_001358462.1:p.?	NC_000014.8:g.66083858T>C	VUS	1 lab	22f940ca2c
17:76422528 DNAH17 C>T	17	76422528	76422528	C	T	DNAH17	c.12915+10G>A	NM_173628.4	NP_775899.3:p.?	NC_000017.10:g.76422528C>T	(Likely) benign	1 lab	22fa738256
1:45120462 TMEM53 G>C	1	45120462	45120462	G	C	TMEM53	c.603C>G	NM_024587.4	NP_078863.2:p.(Asp201Glu)	NC_000001.10:g.45120462G>C	VUS	1 lab	22faaab875
17:78325568 RNF213 T>C	17	78325568	78325568	T	C	RNF213	c.10268T>C	NM_001256071.3	NP_001243000.2:p.(Val3423Ala)	NC_000017.10:g.78325568T>C	VUS	1 lab	22fc1b86f3
7:69344985 AUTS2 A>G	7	69344985	69344985	A	G	AUTS2	c.310-19287A>G	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.69344985A>G	(Likely) benign	1 lab	22fd50996c
8:97299376 PTDSS1 T>G	8	97299376	97299376	T	G	PTDSS1	c.441+2T>G	NM_014754.3	NP_055569.1:p.?	NC_000008.10:g.97299376T>G	VUS	1 lab	22fedc1edb
19:7621334 PNPLA6 C>T	19	7621334	7621334	C	T	PNPLA6	c.3094-5C>T	NM_001166114.2	NP_001159586.1:p.?	NC_000019.9:g.7621334C>T	(Likely) benign	1 lab	22fef2e30e
16:75269404 BCAR1 G>A	16	75269404	75269404	G	A	BCAR1	c.1393C>T	NM_014567.5	NP_055382.2:p.(Arg465Trp)	NC_000016.9:g.75269404G>A	VUS	1 lab	22ffd04cae
7:6038872 PMS2 T>C	7	6038872	6038872	T	C	PMS2	c.572A>G	NM_000535.7	NP_000526.2:p.(Tyr191Cys)	NC_000007.13:g.6038872T>C	VUS	1 lab	2300c4d7f5
7:151944800 KMT2C T>G	7	151944800	151944800	T	G	KMT2C	c.2532+187A>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151944800T>G	(Likely) benign	1 lab	2301de931c
7:77649285 MAGI2 C>T	7	77649285	77649285	C	T	MAGI2	c.3715G>A	NM_012301.4	NP_036433.2:p.(Ala1239Thr)	NC_000007.13:g.77649285C>T	(Likely) benign	1 lab	2303229486
15:22962462 CYFIP1 C>G	15	22962462	22962462	C	G	CYFIP1	c.2182C>G	NM_014608.6	NP_055423.1:p.(Arg728Gly)	NC_000015.9:g.22962462C>G	VUS	1 lab	230389347c
14:68331678 RAD51B CTTTTT>C	14	68331678	68331717	CTTTTT	C	RAD51B	c.316-7_316-3del	NM_133510.4	NP_598194.1:p.?	NC_000014.8:g.68331713_68331717del	(Likely) benign	1 lab	230525ec94
13:23909059 SACS G>C	13	23909059	23909059	G	C	SACS	c.8956C>G	NM_014363.6	NP_055178.3:p.(His2986Asp)	NC_000013.10:g.23909059G>C	VUS	1 lab	230ac640bc
14:75513105 MLH3 A>G	14	75513105	75513105	A	G	MLH3	c.3254T>C	NM_001040108.2	NP_001035197.1:p.(Val1085Ala)	NC_000014.8:g.75513105A>G	VUS	1 lab	230b41550f
X:19983651 BCLAF3 C>T	X	19983651	19983651	C	T	BCLAF3	c.785G>A	NM_001367774.2	NP_001354703.1:p.(Arg262Gln)	NC_000023.10:g.19983651C>T	VUS	1 lab	230da5aedb
16:1642469 IFT140 C>T	16	1642469	1642469	C	T	IFT140	c.490G>A	NM_014714.4	NP_055529.2:p.(Glu164Lys)	NC_000016.9:g.1642469C>T	(Likely) benign	1 lab	230dd3d9f2
16:1306973 TPSD1 A>G	16	1306973	1306973	A	G	TPSD1	c.430A>G	NM_012217.3	NP_036349.1:p.(Ile144Val)	NC_000016.9:g.1306973A>G	VUS	1 lab	230dd9e514
19:45853693 ERCC2 A>G	19	45853693	45853693	A	G	ERCC2	c.*1194T>C	NM_000400.4	NP_000391.1:p.?	NC_000019.9:g.45853693A>G	VUS	1 lab	230df5e526
X:41060416 USP9X T>A	X	41060416	41060416	T	A	USP9X	c.4707T>A	NM_001039591.3	NP_001034680.2:p.(Asn1569Lys)	NC_000023.10:g.41060416T>A	VUS	1 lab	2310beeed9
X:56291628 KLF8 C>T	X	56291628	56291628	C	T	KLF8	c.97C>T	NM_007250.5	NP_009181.2:p.(Arg33Trp)	NC_000023.10:g.56291628C>T	(Likely) benign	1 lab	2310e121ba
3:169099117 MECOM G>A	3	169099117	169099117	G	A	MECOM	c.233C>T	NM_004991.4	NP_004982.2:p.(Ala78Val)	NC_000003.11:g.169099117G>A	VUS	1 lab	231104a782
9:135937442 CEL C>T	9	135937442	135937442	C	T	CEL	c.53C>T	NM_001807.6	NP_001798.3:p.(Ala18Val)	NC_000009.11:g.135937442C>T	(Likely) benign	1 lab	231500b5ef
3:97499483 ARL6 G>A	3	97499483	97499483	G	A	ARL6	c.210G>A	NM_001278293.3	NP_001265222.1:p.(Met70Ile)	NC_000003.11:g.97499483G>A	VUS	1 lab	231521d2a9
1:186105796 HMCN1 G>A	1	186105796	186105796	G	A	HMCN1	c.13313-4G>A	NM_031935.3	NP_114141.2:p.?	NC_000001.10:g.186105796G>A	(Likely) benign	1 lab	2315d9be55
X:153593552 FLNA C>G	X	153593552	153593552	C	G	FLNA	c.1643G>C	NM_001110556.2	NP_001104026.1:p.(Gly548Ala)	NC_000023.10:g.153593552C>G	VUS	1 lab	23192f3c4c
4:85658379 WDFY3 G>A	4	85658379	85658379	G	A	WDFY3	c.6715C>T	NM_014991.6	NP_055806.2:p.(Leu2239Phe)	NC_000004.11:g.85658379G>A	VUS	1 lab	2319d5996a
4:184605369 TRAPPC11 T>A	4	184605369	184605369	T	A	TRAPPC11	c.1359T>A	NM_021942.6	NP_068761.4:p.(Ser453Arg)	NC_000004.11:g.184605369T>A	(Likely) benign	1 lab	231a9b0b3e
5:13771053 DNAH5 C>T	5	13771053	13771053	C	T	DNAH5	c.9410G>A	NM_001369.3	NP_001360.1:p.(Cys3137Tyr)	NC_000005.9:g.13771053C>T	VUS	1 lab	231b3301a9
14:21862292 CHD8 A>G	14	21862292	21862292	A	G	CHD8	c.5662T>C	NM_001170629.2	NP_001164100.1:p.(Tyr1888His)	NC_000014.8:g.21862292A>G	VUS	1 lab	231cf4d0c3
1:10067716 RBP7 G>A	1	10067716	10067716	G	A	RBP7	c.162G>A	NM_052960.3	NP_443192.1:p.(Thr54=)	NC_000001.10:g.10067716G>A	(Likely) benign	1 lab	231e49ede6
5:151052741 SPARC C>T	5	151052741	151052741	C	T	SPARC	c.157G>A	NM_003118.4	NP_003109.1:p.(Gly53Arg)	NC_000005.9:g.151052741C>T	VUS	1 lab	231f2d766d
9:131150146 URM1 G>A	9	131150146	131150146	G	A	URM1	c.158G>A	NM_030914.4	NP_112176.1:p.(Arg53Gln)	NC_000009.11:g.131150146G>A	VUS	1 lab	231f6b4e14
16:51174833 SALL1 T>C	16	51174833	51174833	T	C	SALL1	c.1300A>G	NM_002968.3	NP_002959.2:p.(Thr434Ala)	NC_000016.9:g.51174833T>C	VUS	1 lab	23204b6b83
2:179639930 TTN C>T	2	179639930	179639930	C	T	TTN	c.6509-1G>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179639930C>T	(Likely) pathogenic	1 lab	2320c04ab6
12:65563978 LEMD3 G>A	12	65563978	65563978	G	A	LEMD3	c.602G>A	NM_014319.5	NP_055134.2:p.(Arg201Lys)	NC_000012.11:g.65563978G>A	(Likely) benign	1 lab	2321ca3fa7
12:101520828 ANO4 C>T	12	101520828	101520828	C	T	ANO4	c.2848C>T	NM_001286615.2	NP_001273544.1:p.(His950Tyr)	NC_000012.11:g.101520828C>T	(Likely) benign	1 lab	2321d02b93
17:37360889 RPL19 G>T	17	37360889	37360889	G	T	RPL19	c.579G>T	NM_000981.4	NP_000972.1:p.(Glu193Asp)	NC_000017.10:g.37360889G>T	VUS	1 lab	232321fbe7
8:61608051 CHD7 T>C	8	61608051	61608051	T	C	CHD7	c.-175+16410T>C	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61608051T>C	VUS	1 lab	2325c60bc7
19:52716287 PPP2R1A T>C	19	52716287	52716287	T	C	PPP2R1A	c.731T>C	NM_014225.6	NP_055040.2:p.(Val244Ala)	NC_000019.9:g.52716287T>C	(Likely) benign	1 lab	2329fc1338
16:50785675 CYLD C>A	16	50785675	50785675	C	A	CYLD	c.665C>A	NM_001378743.1	NP_001365672.1:p.(Thr222Lys)	NC_000016.9:g.50785675C>A	(Likely) benign	1 lab	232be5a8b1
2:232790115 NPPC C>G	2	232790115	232790115	C	G	NPPC	c.*20G>C	NM_024409.4	NP_077720.1:p.?	NC_000002.11:g.232790115C>G	VUS	1 lab	232e6b2860
22:41574406 EP300 A>G	22	41574406	41574406	A	G	EP300	c.6691A>G	NM_001429.4	NP_001420.2:p.(Met2231Val)	NC_000022.10:g.41574406A>G	(Likely) benign	1 lab	232efe9721
19:17895708 FCHO1 G>A	19	17895708	17895708	G	A	FCHO1	c.2401G>A	NM_015122.3	NP_055937.1:p.(Val801Ile)	NC_000019.9:g.17895708G>A	(Likely) benign	1 lab	232f0431a0
11:47299753 MADD C>T	11	47299753	47299753	C	T	MADD	c.1133C>T	NM_001376571.1	NP_001363500.1:p.(Pro378Leu)	NC_000011.9:g.47299753C>T	VUS	1 lab	232fafa71a
11:6647851 DCHS1 T>C	11	6647851	6647851	T	C	DCHS1	c.6296A>G	NM_003737.4	NP_003728.1:p.(Asn2099Ser)	NC_000011.9:g.6647851T>C	(Likely) benign	1 lab	23302ee000
17:78321103 RNF213 A>C	17	78321103	78321103	A	C	RNF213	c.8968A>C	NM_001256071.3	NP_001243000.2:p.(Lys2990Gln)	NC_000017.10:g.78321103A>C	VUS	1 lab	2330a0a95c
7:128034632 IMPDH1 G>C	7	128034632	128034632	G	C	IMPDH1	c.1572C>G	NM_000883.4	NP_000874.2:p.(Ile524Met)	NC_000007.13:g.128034632G>C	VUS	1 lab	2331fac54d
1:22157517 HSPG2 C>T	1	22157517	22157517	C	T	HSPG2	c.11629G>A	NM_005529.7	NP_005520.4:p.(Gly3877Arg)	NC_000001.10:g.22157517C>T	VUS	1 lab	23342e8438
20:30897660 KIF3B C>T	20	30897660	30897660	C	T	KIF3B	c.80C>T	NM_004798.4	NP_004789.1:p.(Ser27Leu)	NC_000020.10:g.30897660C>T	(Likely) benign	1 lab	23357e7459
19:50154459 SCAF1 G>C	19	50154459	50154459	G	C	SCAF1	c.813G>C	NM_021228.3	NP_067051.2:p.(Glu271Asp)	NC_000019.9:g.50154459G>C	(Likely) benign	1 lab	2335901974
17:29482988 NF1 C>CT	17	29482988	29482997	C	CT	NF1	c.61-4dup	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29482997dup	(Likely) benign	1 lab	2335d815da
9:139417544 NOTCH1 G>A	9	139417544	139417544	G	A	NOTCH1	c.500C>T	NM_017617.5	NP_060087.3:p.(Pro167Leu)	NC_000009.11:g.139417544G>A	VUS	1 lab	2336e2f42c
10:46963852 SYT15 T>C	10	46963852	46963852	T	C	SYT15	c.1111A>G	NM_031912.5	NP_114118.2:p.(Met371Val)	NC_000010.10:g.46963852T>C	VUS	1 lab	233713f57f
2:158655995 ACVR1 C>G	2	158655995	158655995	C	G	ACVR1	c.11G>C	NM_001111067.4	NP_001104537.1:p.(Gly4Ala)	NC_000002.11:g.158655995C>G	VUS	1 lab	2338adbe3a
10:123310884 FGFR2 C>T	10	123310884	123310884	C	T	FGFR2	c.544G>A	NM_000141.5	NP_000132.3:p.(Gly182Arg)	NC_000010.10:g.123310884C>T	(Likely) benign	1 lab	2339e9dd0a
7:83036446 SEMA3E G>T	7	83036446	83036446	G	T	SEMA3E	c.780C>A	NM_012431.3	NP_036563.1:p.(His260Gln)	NC_000007.13:g.83036446G>T	(Likely) benign	1 lab	233a02cf41
15:44890913 SPG11 C>T	15	44890913	44890913	C	T	SPG11	c.3808G>A	NM_025137.4	NP_079413.3:p.(Val1270Ile)	NC_000015.9:g.44890913C>T	VUS	1 lab	233b3094dd
15:93480505 CHD2 G>GA	15	93480505	93480511	G	GA	CHD2	c.444-237dup	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93480511dup	(Likely) benign	1 lab	1becb9f624
1:152284669 FLG TTAC>T	1	152284669	152284672	TTAC	T	FLG	c.2690_2692del	NM_002016.2	NP_002007.1:p.(Arg897_Asn898delinsHis)	NC_000001.10:g.152284670_152284672del	(Likely) benign	1 lab	233c6bf898
11:65977878 PACS1 A>G	11	65977878	65977878	A	G	PACS1	c.490A>G	NM_018026.4	NP_060496.2:p.(Ser164Gly)	NC_000011.9:g.65977878A>G	(Likely) benign	1 lab	233c9e1b77
19:13318676 CACNA1A CTGCTGCTGCTGCTG>C	19	13318676	13318690	CTGCTGCTGCTGCTG	C	CACNA1A	c.6958_6971del	NM_001127222.2	NP_001120694.1:p.(Gln2320AlafsTer178)	NC_000019.9:g.13318677_13318690del	(Likely) benign	1 lab	233d316dbc
11:71249605 KRTAP5-8 C>T	11	71249605	71249605	C	T	KRTAP5-8	c.504C>T	NM_021046.3	NP_066384.2:p.(Cys168=)	NC_000011.9:g.71249605C>T	VUS	1 lab	233e205570
5:112238201 REEP5 T>A	5	112238201	112238201	T	A	REEP5	c.227A>T	NM_005669.5	NP_005660.4:p.(Glu76Val)	NC_000005.9:g.112238201T>A	VUS	1 lab	233f1dfc9f
16:89623374 SPG7 C>T	16	89623374	89623374	C	T	SPG7	c.2261C>T	NM_003119.4	NP_003110.1:p.(Pro754Leu)	NC_000016.9:g.89623374C>T	VUS	1 lab	23403f7936
3:46937362 PTH1R A>T	3	46937362	46937362	A	T	PTH1R	c.313+3A>T	NM_000316.3	NP_000307.1:p.?	NC_000003.11:g.46937362A>T	VUS	1 lab	2343185f84
9:131832681 MIGA2 C>T	9	131832681	131832681	C	T	MIGA2	c.1731C>T	NM_001329990.2	NP_001316919.1:p.(Gly577=)	NC_000009.11:g.131832681C>T	VUS	1 lab	2344384146
1:152278938 FLG G>C	1	152278938	152278938	G	C	FLG	c.8424C>G	NM_002016.2	NP_002007.1:p.(Ser2808Arg)	NC_000001.10:g.152278938G>C	(Likely) benign	1 lab	2344949d8a
12:90028936 ATP2B1 C>T	12	90028936	90028936	C	T	ATP2B1	c.499G>A	NM_001366521.1	NP_001353450.1:p.(Val167Met)	NC_000012.11:g.90028936C>T	VUS	1 lab	23461d71e6
15:26825493 GABRB3 C>T	15	26825493	26825493	C	T	GABRB3	c.655G>A	NM_000814.6	NP_000805.1:p.(Val219Ile)	NC_000015.9:g.26825493C>T	(Likely) benign	1 lab	23462f8bca
2:216191558 ATIC C>T	2	216191558	216191558	C	T	ATIC	c.545C>T	NM_004044.7	NP_004035.2:p.(Thr182Met)	NC_000002.11:g.216191558C>T	VUS	1 lab	23469afead
2:179477599 TTN C>T	2	179477599	179477599	C	T	TTN	c.49849G>A	NM_001267550.2	NP_001254479.2:p.(Glu16617Lys)	NC_000002.11:g.179477599C>T	VUS	1 lab	23498873cb
12:65563669 LEMD3 TCTC>T	12	65563669	65563674	TCTC	T	LEMD3	c.296_298del	NM_014319.5	NP_055134.2:p.(Ser99del)	NC_000012.11:g.65563672_65563674del	(Likely) benign	1 lab	234995ef87
9:134501651 RAPGEF1 G>A	9	134501651	134501651	G	A	RAPGEF1	c.1360C>T	NM_001377935.1	NP_001364864.1:p.(His454Tyr)	NC_000009.11:g.134501651G>A	(Likely) benign	1 lab	2349f7cfd3
18:21118574 NPC1 C>A	18	21118574	21118574	C	A	NPC1	c.2973G>T	NM_000271.5	NP_000262.2:p.(Gln991His)	NC_000018.9:g.21118574C>A	(Likely) benign	1 lab	234a15a202
17:67190043 ABCA10 T>C	17	67190043	67190043	T	C	ABCA10	c.1433A>G	NM_001377321.1	NP_001364250.1:p.(Asn478Ser)	NC_000017.10:g.67190043T>C	VUS	1 lab	234ac4e801
15:89399396 ACAN G>T	15	89399396	89399396	G	T	ACAN	c.3580G>T	NM_001369268.1	NP_001356197.1:p.(Ala1194Ser)	NC_000015.9:g.89399396G>T	VUS	1 lab	234b40cce7
19:17951106 JAK3 G>A	19	17951106	17951106	G	A	JAK3	c.1187C>T	NM_000215.3	NP_000206.2:p.(Pro396Leu)	NC_000019.9:g.17951106G>A	(Likely) benign	1 lab	1bf1484938
21:47414097 COL6A1 A>G	21	47414097	47414097	A	G	COL6A1	c.1352A>G	NM_001848.3	NP_001839.2:p.(Gln451Arg)	NC_000021.8:g.47414097A>G	(Likely) benign	1 lab	234feb9746
22:50962662 SCO2 C>T	22	50962662	50962662	C	T	SCO2	c.179G>A	NM_005138.3	NP_005129.2:p.(Arg60Gln)	NC_000022.10:g.50962662C>T	VUS	1 lab	23500984b1
19:17994689 SLC5A5 G>A	19	17994689	17994689	G	A	SLC5A5	c.1360G>A	NM_000453.3	NP_000444.1:p.(Ala454Thr)	NC_000019.9:g.17994689G>A	(Likely) benign	1 lab	235171c854
X:48688056 ERAS G>A	X	48688056	48688056	G	A	ERAS	c.523G>A	NM_181532.3	NP_853510.1:p.(Ala175Thr)	NC_000023.10:g.48688056G>A	(Likely) benign	1 lab	2351ce39f7
1:115256486 NRAS G>A	1	115256486	115256486	G	A	NRAS	c.225C>T	NM_002524.5	NP_002515.1:p.(Gly75=)	NC_000001.10:g.115256486G>A	(Likely) benign	1 lab	23539adee5
15:31325065 TRPM1 C>T	15	31325065	31325065	C	T	TRPM1	c.2779G>A	NM_001252024.2	NP_001238953.1:p.(Val927Met)	NC_000015.9:g.31325065C>T	VUS	1 lab	2353ea9408
14:102229303 PPP2R5C C>T	14	102229303	102229303	C	T	PPP2R5C	c.89C>T	NM_001352913.2	NP_001339842.1:p.(Ser30Leu)	NC_000014.8:g.102229303C>T	(Likely) benign	1 lab	23540910a9
1:985126 AGRN G>C	1	985126	985126	G	C	AGRN	c.4695G>C	NM_198576.4	NP_940978.2:p.(Gln1565His)	NC_000001.10:g.985126G>C	(Likely) benign	1 lab	2354824c60
10:102988344 LBX1 C>G	10	102988344	102988344	C	G	LBX1	c.229G>C	NM_006562.5	NP_006553.2:p.(Ala77Pro)	NC_000010.10:g.102988344C>G	VUS	1 lab	2361d2a274
6:107955933 SOBP A>AGCCCCCCGG	6	107955933	107955953	A	AGCCCCCCGG	SOBP	c.1897_1905dup	NM_018013.4	NP_060483.3:p.(Pro633_Gly635dup)	NC_000006.11:g.107955945_107955953dup	VUS	1 lab	235508db41
8:11566406 GATA4 G>C	8	11566406	11566406	G	C	GATA4	c.585G>C	NM_001308093.3	NP_001295022.1:p.(Arg195=)	NC_000008.10:g.11566406G>C	(Likely) benign	1 lab	23558d267c
17:65899902 BPTF T>A	17	65899902	65899902	T	A	BPTF	c.2544-3T>A	NM_182641.4	NP_872579.2:p.?	NC_000017.10:g.65899902T>A	(Likely) benign	1 lab	23592c2966
16:2226176 TRAF7 C>T	16	2226176	2226176	C	T	TRAF7	c.1873C>T	NM_032271.3	NP_115647.2:p.(Leu625Phe)	NC_000016.9:g.2226176C>T	VUS	1 lab	2359549798
1:120497801 NOTCH2 C>T	1	120497801	120497801	C	T	NOTCH2	c.2081G>A	NM_024408.4	NP_077719.2:p.(Gly694Asp)	NC_000001.10:g.120497801C>T	VUS	1 lab	2359ab1601
12:110618322 IFT81 G>T	12	110618322	110618322	G	T	IFT81	c.1284G>T	NM_014055.4	NP_054774.2:p.(Leu428Phe)	NC_000012.11:g.110618322G>T	(Likely) benign	1 lab	2359c066b1
10:89468939 PAPSS2 G>C	10	89468939	89468939	G	C	PAPSS2	c.28-14G>C	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89468939G>C	(Likely) benign	1 lab	235a656610
17:15938180 NCOR1 A>G	17	15938180	15938180	A	G	NCOR1	c.7034T>C	NM_006311.4	NP_006302.2:p.(Leu2345Ser)	NC_000017.10:g.15938180A>G	(Likely) benign	1 lab	235ca69804
9:98242697 PTCH1 G>A	9	98242697	98242697	G	A	PTCH1	c.920C>T	NM_000264.5	NP_000255.2:p.(Thr307Ile)	NC_000009.11:g.98242697G>A	VUS	1 lab	235cccdf0b
5:58271583 PDE4D T>C	5	58271583	58271583	T	C	PDE4D	c.1914A>G	NM_001104631.2	NP_001098101.1:p.(Ile638Met)	NC_000005.9:g.58271583T>C	VUS	1 lab	235ebe6602
7:94040202 COL1A2 G>C	7	94040202	94040202	G	C	COL1A2	c.1199G>C	NM_000089.4	NP_000080.2:p.(Gly400Ala)	NC_000007.13:g.94040202G>C	(Likely) pathogenic	1 lab	235efde264
17:38244603 THRA G>C	17	38244603	38244603	G	C	THRA	c.832G>C	NM_199334.5	NP_955366.1:p.(Gly278Arg)	NC_000017.10:g.38244603G>C	VUS	1 lab	23ca1b1532
2:27430152 SLC5A6 G>A	2	27430152	27430152	G	A	SLC5A6	c.367C>T	NM_021095.4	NP_066918.2:p.(Arg123Cys)	NC_000002.11:g.27430152G>A	VUS	1 lab	236091367d
19:2399153 TMPRSS9 T>C	19	2399153	2399153	T	C	TMPRSS9	c.476T>C	NM_001395513.1	NP_001382442.1:p.(Leu159Pro)	NC_000019.9:g.2399153T>C	VUS	1 lab	2362e17641
14:80327986 NRXN3 G>A	14	80327986	80327986	G	A	NRXN3	c.4395G>A	NM_001330195.2	NP_001317124.1:p.(Met1465Ile)	NC_000014.8:g.80327986G>A	VUS	1 lab	2363281fff
17:29559088 NF1 C>G	17	29559088	29559088	C	G	NF1	c.3198-3C>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29559088C>G	VUS	1 lab	2363ef202e
6:121402024 TBC1D32 G>A	6	121402024	121402024	G	A	TBC1D32	c.3667C>T	NM_152730.6	NP_689943.4:p.(His1223Tyr)	NC_000006.11:g.121402024G>A	(Likely) benign	1 lab	2364289ee3
X:129536231 RBMX2 C>G	X	129536231	129536231	C	G	RBMX2	c.8C>G	NM_016024.4	NP_057108.2:p.(Pro3Arg)	NC_000023.10:g.129536231C>G	VUS	1 lab	2365a1e183
18:48591918 SMAD4 C>T	18	48591918	48591918	C	T	SMAD4	c.1081C>T	NM_005359.5	NP_005350.1:p.(Arg361Cys)	NC_000018.9:g.48591918C>T	(Likely) pathogenic	1 lab	1bf29d05db
15:42162070 SPTBN5 C>T	15	42162070	42162070	C	T	SPTBN5	c.5822G>A	NM_016642.4	NP_057726.4:p.(Arg1941Gln)	NC_000015.9:g.42162070C>T	VUS	1 lab	23677d40f8
15:91449982 MAN2A2 G>A	15	91449982	91449982	G	A	MAN2A2	c.848G>A	NM_006122.4	NP_006113.2:p.(Arg283His)	NC_000015.9:g.91449982G>A	VUS	1 lab	23685bc9d4
5:149357688 SLC26A2 G>A	5	149357688	149357688	G	A	SLC26A2	c.473G>A	NM_000112.4	NP_000103.2:p.(Arg158His)	NC_000005.9:g.149357688G>A	VUS	1 lab	2369aea2df
2:129026297 HS6ST1 G>A	2	129026297	129026297	G	A	HS6ST1	c.675C>T	NM_004807.3	NP_004798.3:p.(Tyr225=)	NC_000002.11:g.129026297G>A	(Likely) benign	1 lab	236b6d51e2
1:22179516 HSPG2 C>T	1	22179516	22179516	C	T	HSPG2	c.6487G>A	NM_005529.7	NP_005520.4:p.(Val2163Met)	NC_000001.10:g.22179516C>T	VUS	1 lab	236b85892c
5:140569159 PCDHB9 T>TG	5	140569159	140569161	T	TG	PCDHB9	c.2270dup	NM_019119.5	NP_061992.3:p.(Gly758ArgfsTer21)	NC_000005.9:g.140569161dup	VUS	1 lab	236bd3797c
16:57691278 ADGRG1 G>A	16	57691278	57691278	G	A	ADGRG1	c.1168-7G>A	NM_201525.4	NP_958933.1:p.?	NC_000016.9:g.57691278G>A	VUS	1 lab	236c009269
19:40321185 DYRK1B T>G	19	40321185	40321185	T	G	DYRK1B	c.202A>C	NM_004714.3	NP_004705.1:p.(Lys68Gln)	NC_000019.9:g.40321185T>G	VUS	1 lab	236d20ffdf
15:91312388 BLM C>G	15	91312388	91312388	C	G	BLM	c.2333C>G	NM_000057.4	NP_000048.1:p.(Ser778Cys)	NC_000015.9:g.91312388C>G	VUS	1 lab	236dcf59f1
22:37465391 TMPRSS6 T>G	22	37465391	37465391	T	G	TMPRSS6	c.1842-7A>C	NM_001374504.1	NP_001361433.1:p.?	NC_000022.10:g.37465391T>G	(Likely) benign	1 lab	236e46c10b
15:33359950 FMN1 C>G	15	33359950	33359950	C	G	FMN1	c.2044-2675G>C	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33359950C>G	(Likely) benign	1 lab	2371ae67cb
5:13762923 DNAH5 T>A	5	13762923	13762923	T	A	DNAH5	c.10189A>T	NM_001369.3	NP_001360.1:p.(Lys3397Ter)	NC_000005.9:g.13762923T>A	VUS	1 lab	2372445bb5
15:100591810 ADAMTS17 C>T	15	100591810	100591810	C	T	ADAMTS17	c.2422G>A	NM_139057.4	NP_620688.2:p.(Gly808Ser)	NC_000015.9:g.100591810C>T	VUS	1 lab	2372c11aaf
20:17602158 RRBP1 G>A	20	17602158	17602158	G	A	RRBP1	c.3359C>T	NM_001365613.2	NP_001352542.1:p.(Thr1120Met)	NC_000020.10:g.17602158G>A	VUS	1 lab	2374abfc5a
1:41249818 KCNQ4 C>G	1	41249818	41249818	C	G	KCNQ4	c.53C>G	NM_004700.4	NP_004691.2:p.(Ala18Gly)	NC_000001.10:g.41249818C>G	(Likely) benign	1 lab	23752e8a26
7:105254872 ATXN7L1 C>T	7	105254872	105254872	C	T	ATXN7L1	c.1909G>A	NM_020725.2	NP_065776.1:p.(Asp637Asn)	NC_000007.13:g.105254872C>T	(Likely) benign	1 lab	2376ffd54a
11:66481220 SPTBN2 G>A	11	66481220	66481220	G	A	SPTBN2	c.657-3C>T	NM_006946.4	NP_008877.2:p.?	NC_000011.9:g.66481220G>A	(Likely) benign	1 lab	237c9c7a31
9:140953165 CACNA1B ACTGTGGTG>A	9	140953165	140953176	ACTGTGGTG	A	CACNA1B	c.4457_4464del	NM_000718.4	NP_000709.1:p.(Val1486AspfsTer6)	NC_000009.11:g.140953169_140953176del	VUS	1 lab	237da6a8f6
21:44480632 CBS G>A	21	44480632	44480632	G	A	CBS	c.1064C>T	NM_000071.3	NP_000062.1:p.(Ala355Val)	NC_000021.8:g.44480632G>A	(Likely) pathogenic	1 lab	238044c49d
X:102941553 MORF4L2 CGAAA>C	X	102941553	102941557	CGAAA	C	MORF4L2	c.-268+2_-268+5del	NM_012286.3	NP_036418.1:p.?	NC_000023.10:g.102941554_102941557del	(Likely) benign	1 lab	2380b32981
11:103126825 DYNC2H1 T>C	11	103126825	103126825	T	C	DYNC2H1	c.10327-10T>C	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103126825T>C	(Likely) benign	1 lab	23813407cc
4:191003213 MISSING G>C	4	191003213	191003213	G	C	MISSING				NC_000004.11:g.191003213G>C	(Likely) benign	1 lab	250af7e4ee
1:43392894 SLC2A1 C>T	1	43392894	43392894	C	T	SLC2A1	c.1297G>A	NM_006516.4	NP_006507.2:p.(Val433Ile)	NC_000001.10:g.43392894C>T	(Likely) benign	1 lab	23817864c8
9:26935198 PLAA G>C	9	26935198	26935198	G	C	PLAA	c.156C>G	NM_001031689.3	NP_001026859.1:p.(Asn52Lys)	NC_000009.11:g.26935198G>C	VUS	1 lab	2381bd0774
17:6330360 AIPL1 ATCAC>A	17	6330360	6330366	ATCAC	A	AIPL1	c.479_482del	NM_014336.5	NP_055151.3:p.(Ser160IlefsTer9)	NC_000017.10:g.6330363_6330366del	VUS	1 lab	23835197b8
19:8650395 ADAMTS10 T>C	19	8650395	8650395	T	C	ADAMTS10	c.2810A>G	NM_030957.4	NP_112219.3:p.(Glu937Gly)	NC_000019.9:g.8650395T>C	VUS	1 lab	2383af8b9c
12:13764779 GRIN2B A>T	12	13764779	13764779	A	T	GRIN2B	c.1660T>A	NM_000834.5	NP_000825.2:p.(Phe554Ile)	NC_000012.11:g.13764779A>T	VUS	1 lab	2384aad2ac
15:99454584 IGF1R G>A	15	99454584	99454584	G	A	IGF1R	c.1503G>A	NM_000875.5	NP_000866.1:p.(Ser501=)	NC_000015.9:g.99454584G>A	(Likely) benign	1 lab	2384df7a14
4:107173063 TBCK T>C	4	107173063	107173063	T	C	TBCK	c.557A>G	NM_001163435.3	NP_001156907.2:p.(Asp186Gly)	NC_000004.11:g.107173063T>C	VUS	1 lab	2386110b15
4:39219637 WDR19 G>A	4	39219637	39219637	G	A	WDR19	c.1391G>A	NM_025132.4	NP_079408.3:p.(Arg464His)	NC_000004.11:g.39219637G>A	VUS	1 lab	238642d112
19:6010207 RFX2 G>C	19	6010207	6010207	G	C	RFX2	c.955C>G	NM_000635.4	NP_000626.2:p.(Leu319Val)	NC_000019.9:g.6010207G>C	(Likely) benign	1 lab	23864f654e
9:94499711 ROR2 G>A	9	94499711	94499711	G	A	ROR2	c.584C>T	NM_004560.4	NP_004551.2:p.(Ser195Leu)	NC_000009.11:g.94499711G>A	VUS	1 lab	238681563b
3:6903392 GRM7 T>C	3	6903392	6903392	T	C	GRM7	c.317T>C	NM_000844.4	NP_000835.1:p.(Leu106Pro)	NC_000003.11:g.6903392T>C	VUS	1 lab	2386b4f05d
17:41738577 MEOX1 G>A	17	41738577	41738577	G	A	MEOX1	c.326C>T	NM_004527.4	NP_004518.1:p.(Pro109Leu)	NC_000017.10:g.41738577G>A	(Likely) benign	1 lab	2389a1f4eb
2:186659101 FSIP2 CA>C	2	186659101	186659105	CA	C	FSIP2	c.7242del	NM_173651.4	NP_775922.3:p.(Glu2415LysfsTer8)	NC_000002.11:g.186659105del	VUS	1 lab	238ad99b69
7:156801686 MNX1 C>G	7	156801686	156801686	C	G	MNX1	c.691+668G>C	NM_005515.4	NP_005506.3:p.?	NC_000007.13:g.156801686C>G	(Likely) benign	1 lab	238f1c1ad4
21:44486400 CBS G>A	21	44486400	44486400	G	A	CBS	c.404C>T	NM_000071.3	NP_000062.1:p.(Thr135Met)	NC_000021.8:g.44486400G>A	VUS	1 lab	238f57cbe4
18:13049279 CEP192 C>T	18	13049279	13049279	C	T	CEP192	c.2489C>T	NM_032142.4	NP_115518.3:p.(Thr830Ile)	NC_000018.9:g.13049279C>T	(Likely) benign	1 lab	23904d0337
1:40781254 COL9A2 A>G	1	40781254	40781254	A	G	COL9A2	c.150+8T>C	NM_001852.4	NP_001843.1:p.?	NC_000001.10:g.40781254A>G	(Likely) benign	1 lab	2390c050e6
3:151134129 MED12L G>C	3	151134129	151134129	G	C	MED12L	c.6327G>C	NM_001393769.1	NP_001380698.1:p.(Gln2109His)	NC_000003.11:g.151134129G>C	(Likely) benign	1 lab	2391fe5764
12:110019229 MVK G>A	12	110019229	110019229	G	A	MVK	c.401G>A	NM_000431.2	NP_000422.1:p.(Trp134Ter)	NC_000012.11:g.110019229G>A	(Likely) pathogenic	1 lab	1bf776a8cd
16:88788982 PIEZO1 C>T	16	88788982	88788982	C	T	PIEZO1	c.4775+9G>A	NM_001142864.4	NP_001136336.2:p.?	NC_000016.9:g.88788982C>T	(Likely) benign	1 lab	2392b8fe2c
12:402095 KDM5A CCTT>C	12	402095	402101	CCTT	C	KDM5A	c.4693_4695del	NM_001042603.3	NP_001036068.1:p.(Lys1565del)	NC_000012.11:g.402099_402101del	(Likely) benign	1 lab	2392e60e21
12:6085324 VWF G>A	12	6085324	6085324	G	A	VWF	c.7390C>T	NM_000552.5	NP_000543.3:p.(Arg2464Cys)	NC_000012.11:g.6085324G>A	(Likely) pathogenic	1 lab	2393355f53
9:95374837 CENPP T>C	9	95374837	95374837	T	C	CENPP	c.677T>C	NM_001012267.3	NP_001012267.1:p.(Ile226Thr)	NC_000009.11:g.95374837T>C	VUS	1 lab	239428ea74
21:44514809 U2AF1 G>A	21	44514809	44514809	G	A	U2AF1	c.438C>T	NM_006758.3	NP_006749.1:p.(Pro146=)	NC_000021.8:g.44514809G>A	(Likely) benign	1 lab	2395d03c5b
22:36661945 APOL1 G>A	22	36661945	36661945	G	A	APOL1	c.1063G>A	NM_003661.4	NP_003652.2:p.(Glu355Lys)	NC_000022.10:g.36661945G>A	(Likely) benign	1 lab	1bf7b7f9b5
1:220363115 RAB3GAP2 A>C	1	220363115	220363115	A	C	RAB3GAP2	c.1715-6T>G	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220363115A>C	(Likely) benign	1 lab	2397bdef4e
2:241696840 KIF1A ATCCTCCTCCTCC>A	2	241696840	241696873	ATCCTCCTCCTCC	A	KIF1A	c.2555+925_2555+936del	NM_004321.8	NP_004312.2:p.?	NC_000002.11:g.241696862_241696873del	VUS	1 lab	1bb7c0b037
11:17474842 ABCC8 A>G	11	17474842	17474842	A	G	ABCC8	c.1012-12T>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17474842A>G	(Likely) benign	1 lab	239a6b0bc6
17:41179193 RND2 C>T	17	41179193	41179193	C	T	RND2	c.191-7C>T	NM_005440.5	NP_005431.1:p.?	NC_000017.10:g.41179193C>T	VUS	1 lab	239a77d4f2
X:140994428 MAGEC1 C>G	X	140994428	140994428	C	G	MAGEC1	c.1238C>G	NM_005462.5	NP_005453.2:p.(Thr413Ser)	NC_000023.10:g.140994428C>G	VUS	1 lab	239b48747b
5:140051086 WDR55 C>T	5	140051086	140051086	C	T	WDR55	c.*1847C>T	NM_017706.5	NP_060176.3:p.?	NC_000005.9:g.140051086C>T	(Likely) benign	1 lab	239b90ebb1
11:68191126 LRP5 G>A	11	68191126	68191126	G	A	LRP5	c.3197G>A	NM_002335.4	NP_002326.2:p.(Arg1066His)	NC_000011.9:g.68191126G>A	VUS	1 lab	239dd8d6d1
13:35923332 NBEA A>G	13	35923332	35923332	A	G	NBEA	c.5991A>G	NM_015678.4	NP_056493.3:p.(Val1997=)	NC_000013.10:g.35923332A>G	(Likely) benign	1 lab	1bf8bf5fbe
3:123047580 ADCY5 G>A	3	123047580	123047580	G	A	ADCY5	c.1716C>T	NM_183357.3	NP_899200.1:p.(Cys572=)	NC_000003.11:g.123047580G>A	VUS	1 lab	239ea2cac8
9:35095372 PIGO G>A	9	35095372	35095372	G	A	PIGO	c.191C>T	NM_032634.4	NP_116023.2:p.(Ala64Val)	NC_000009.11:g.35095372G>A	(Likely) benign	1 lab	23a0fa1461
1:170695466 PRRX1 G>A	1	170695466	170695466	G	A	PRRX1	c.523G>A	NM_022716.4	NP_073207.1:p.(Val175Met)	NC_000001.10:g.170695466G>A	VUS	1 lab	23a37dfd7a
X:149100775 EOLA2 C>T	X	149100775	149100775	C	T	EOLA2	c.464G>A	NM_001013845.2	NP_001013867.1:p.(Gly155Glu)	NC_000023.10:g.149100775C>T	(Likely) benign	1 lab	23a5d01be9
13:46085901 COG3 G>A	13	46085901	46085901	G	A	COG3	c.1721G>A	NM_031431.4	NP_113619.3:p.(Arg574Lys)	NC_000013.10:g.46085901G>A	VUS	1 lab	23a875a809
21:28210535 ADAMTS1 C>T	21	28210535	28210535	C	T	ADAMTS1	c.2267G>A	NM_006988.5	NP_008919.3:p.(Arg756Gln)	NC_000021.8:g.28210535C>T	(Likely) benign	1 lab	23a87f4ad4
16:2153914 PKD1 G>A	16	2153914	2153914	G	A	PKD1	c.8162-18C>T	NM_001009944.2	NP_001009944.2:p.?	NC_000016.9:g.2153914G>A	(Likely) benign	1 lab	1bf95f97eb
19:42799215 CIC G>A	19	42799215	42799215	G	A	CIC	c.7426G>A	NM_001386298.1	NP_001373227.1:p.(Gly2476Ser)	NC_000019.9:g.42799215G>A	(Likely) benign	1 lab	23a9f32439
7:91603264 AKAP9 G>T	7	91603264	91603264	G	T	AKAP9	c.288G>T	NM_005751.5	NP_005742.4:p.(Glu96Asp)	NC_000007.13:g.91603264G>T	VUS	1 lab	23ab3ef217
6:46660187 TDRD6 G>A	6	46660187	46660187	G	A	TDRD6	c.4322G>A	NM_001010870.3	NP_001010870.1:p.(Arg1441Gln)	NC_000006.11:g.46660187G>A	VUS	1 lab	23ac9fa779
2:179500741 TTN T>C	2	179500741	179500741	T	C	TTN	c.41557A>G	NM_001267550.2	NP_001254479.2:p.(Thr13853Ala)	NC_000002.11:g.179500741T>C	VUS	1 lab	23ae6fd86a
2:169764141 G6PC2 A>C	2	169764141	169764141	A	C	G6PC2	c.620A>C	NM_021176.3	NP_066999.1:p.(Tyr207Ser)	NC_000002.11:g.169764141A>C	(Likely) benign	1 lab	23af471795
2:15693546 NBAS T>C	2	15693546	15693546	T	C	NBAS	c.335+4A>G	NM_015909.4	NP_056993.2:p.?	NC_000002.11:g.15693546T>C	VUS	1 lab	23af912bb9
11:67258296 AIP C>T	11	67258296	67258296	C	T	AIP	c.825C>T	NM_003977.4	NP_003968.3:p.(His275=)	NC_000011.9:g.67258296C>T	(Likely) benign	1 lab	1bb8596505
3:48625825 COL7A1 G>A	3	48625825	48625825	G	A	COL7A1	c.2600C>T	NM_000094.4	NP_000085.1:p.(Pro867Leu)	NC_000003.11:g.48625825G>A	VUS	1 lab	23aff24844
11:64496440 RASGRP2 T>G	11	64496440	64496440	T	G	RASGRP2	c.1666A>C	NM_001098671.2	NP_001092141.1:p.(Ser556Arg)	NC_000011.9:g.64496440T>G	(Likely) benign	1 lab	23b04ef876
3:47125496 SETD2 G>A	3	47125496	47125496	G	A	SETD2	c.5774C>T	NM_014159.7	NP_054878.5:p.(Ser1925Leu)	NC_000003.11:g.47125496G>A	(Likely) benign	1 lab	23b064ae76
1:161495065 HSPA6 C>T	1	161495065	161495065	C	T	HSPA6	c.617C>T	NM_002155.5	NP_002146.2:p.(Thr206Ile)	NC_000001.10:g.161495065C>T	VUS	1 lab	23b09e886f
6:126070983 HEY2 G>C	6	126070983	126070983	G	C	HEY2	c.61G>C	NM_012259.3	NP_036391.1:p.(Gly21Arg)	NC_000006.11:g.126070983G>C	(Likely) benign	1 lab	23b1e66675
9:114190407 ECPAS G>C	9	114190407	114190407	G	C	ECPAS	c.965C>G	NM_001364929.1	NP_001351858.1:p.(Pro322Arg)	NC_000009.11:g.114190407G>C	VUS	1 lab	23b3306bce
1:235922656 LYST C>T	1	235922656	235922656	C	T	LYST	c.6497G>A	NM_000081.4	NP_000072.2:p.(Ser2166Asn)	NC_000001.10:g.235922656C>T	VUS	1 lab	23b3b92d24
4:2831583 SH3BP2 C>T	4	2831583	2831583	C	T	SH3BP2	c.950C>T	NM_001122681.2	NP_001116153.1:p.(Thr317Ile)	NC_000004.11:g.2831583C>T	(Likely) benign	1 lab	23b440ec33
3:48510547 SHISA5 AAGG>A	3	48510547	48510553	AAGG	A	SHISA5	c.679_681del	NM_016479.6	NP_057563.3:p.(Pro227del)	NC_000003.11:g.48510551_48510553del	VUS	1 lab	23b573724a
20:5283192 PROKR2 G>A	20	5283192	5283192	G	A	PROKR2	c.649C>T	NM_144773.4	NP_658986.1:p.(Gln217Ter)	NC_000020.10:g.5283192G>A	VUS	1 lab	23b598c61d
12:7343125 PEX5 GTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGA>G	12	7343125	7343169	GTGTTCTTGAGGTGGAAAGCCCAGGTGCAGCCTCTGAGGCAGTGA	G	PEX5	c.147+6_147+49del	NM_001351132.2	NP_001338061.1:p.?	NC_000012.11:g.7343126_7343169del	VUS	1 lab	23b618ca01
22:50964657 TYMP G>T	22	50964657	50964657	G	T	TYMP	c.1159+18C>A	NM_001953.5	NP_001944.1:p.?	NC_000022.10:g.50964657G>T	(Likely) benign	1 lab	23b6e2230a
4:155412012 DCHS2 G>C	4	155412012	155412012	G	C	DCHS2	c.496C>G	NM_001358235.2	NP_001345164.1:p.(Arg166Gly)	NC_000004.11:g.155412012G>C	(Likely) benign	1 lab	23b71a7d46
2:88926744 EIF2AK3 GC>G	2	88926744	88926745	GC	G	EIF2AK3	c.48del	NM_004836.7	NP_004827.4:p.(Leu17CysfsTer54)	NC_000002.11:g.88926745del	VUS	1 lab	23b84a56e9
3:41266841 CTNNB1 C>T	3	41266841	41266841	C	T	CTNNB1	c.512C>T	NM_001904.4	NP_001895.1:p.(Ala171Val)	NC_000003.11:g.41266841C>T	VUS	1 lab	23bcc43b14
12:49434090 KMT2D G>A	12	49434090	49434090	G	A	KMT2D	c.7463C>T	NM_003482.4	NP_003473.3:p.(Ser2488Leu)	NC_000012.11:g.49434090G>A	(Likely) benign	1 lab	23be0936a6
15:43584168 TGM7 T>C	15	43584168	43584168	T	C	TGM7	c.558+9A>G	NM_052955.3	NP_443187.1:p.?	NC_000015.9:g.43584168T>C	(Likely) benign	1 lab	23c0760734
5:61772569 IPO11 T>C	5	61772569	61772569	T	C	IPO11	c.817T>C	NM_016338.5	NP_057422.3:p.(Phe273Leu)	NC_000005.9:g.61772569T>C	(Likely) benign	1 lab	23c10c8fba
17:74729247 METTL23 TACC>T	17	74729247	74729255	TACC	T	METTL23	c.278_280del	NM_001080510.5	NP_001073979.3:p.(Pro93del)	NC_000017.10:g.74729253_74729255del	VUS	1 lab	23c1bc114c
19:39412023 SARS2 G>A	19	39412023	39412023	G	A	SARS2	c.589+9C>T	NM_017827.4	NP_060297.1:p.?	NC_000019.9:g.39412023G>A	(Likely) benign	1 lab	23c356b7c1
1:22168845 HSPG2 A>T	1	22168845	22168845	A	T	HSPG2	c.8939T>A	NM_005529.7	NP_005520.4:p.(Leu2980His)	NC_000001.10:g.22168845A>T	(Likely) benign	1 lab	23c39ea803
X:49071848 CACNA1F G>A	X	49071848	49071848	G	A	CACNA1F	c.3392C>T	NM_001256789.3	NP_001243718.1:p.(Ala1131Val)	NC_000023.10:g.49071848G>A	VUS	1 lab	23c4d70f47
X:17820127 RAI2 C>T	X	17820127	17820127	C	T	RAI2	c.4G>A	NM_021785.6	NP_068557.4:p.(Asp2Asn)	NC_000023.10:g.17820127C>T	(Likely) benign	1 lab	23c6ba6ee4
14:67579742 GPHN G>T	14	67579742	67579742	G	T	GPHN	c.1480G>T	NM_020806.5	NP_065857.1:p.(Gly494Cys)	NC_000014.8:g.67579742G>T	VUS	1 lab	1bbbd3c6a4
1:43892192 SZT2 G>A	1	43892192	43892192	G	A	SZT2	c.3197G>A	NM_001365999.1	NP_001352928.1:p.(Arg1066Gln)	NC_000001.10:g.43892192G>A	VUS	1 lab	23c761dadc
15:91485790 UNC45A G>T	15	91485790	91485790	G	T	UNC45A	c.811G>T	NM_018671.5	NP_061141.2:p.(Gly271Cys)	NC_000015.9:g.91485790G>T	VUS	1 lab	23c78184c6
19:11117606 SMARCA4 C>G	19	11117606	11117606	C	G	SMARCA4	c.2002-972C>G	NM_003072.5	NP_003063.2:p.?	NC_000019.9:g.11117606C>G	(Likely) benign	1 lab	23c790492d
3:178948031 PIK3CA G>A	3	178948031	178948031	G	A	PIK3CA	c.2803G>A	NM_006218.4	NP_006209.2:p.(Gly935Arg)	NC_000003.11:g.178948031G>A	VUS	1 lab	23c8ba7a3d
1:104080058 RNPC3 C>G	1	104080058	104080058	C	G	RNPC3	c.719C>G	NM_017619.4	NP_060089.1:p.(Ser240Cys)	NC_000001.10:g.104080058C>G	VUS	1 lab	23c8f58a10
16:57493493 COQ9 G>A	16	57493493	57493493	G	A	COQ9	c.728G>A	NM_020312.4	NP_064708.1:p.(Arg243His)	NC_000016.9:g.57493493G>A	VUS	1 lab	23c962344d
X:48755380 PQBP1 G>A	X	48755380	48755380	G	A	PQBP1	c.-19+4G>A	NM_001032383.1	NP_001027555.1:p.?	NC_000023.10:g.48755380G>A	(Likely) benign	1 lab	1bfab2be6b
16:88804361 PIEZO1 G>A	16	88804361	88804361	G	A	PIEZO1	c.1001C>T	NM_001142864.4	NP_001136336.2:p.(Ala334Val)	NC_000016.9:g.88804361G>A	(Likely) benign	1 lab	23cb9f2036
2:179458509 TTN A>C	2	179458509	179458509	A	C	TTN	c.58518T>G	NM_001267550.2	NP_001254479.2:p.(Asp19506Glu)	NC_000002.11:g.179458509A>C	VUS	1 lab	23cbfcbc22
17:78335528 RNF213 C>A	17	78335528	78335528	C	A	RNF213	c.11201-6C>A	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78335528C>A	(Likely) benign	1 lab	23ce56472d
15:75014763 CYP1A1 C>T	15	75014763	75014763	C	T	CYP1A1	c.676G>A	NM_001319217.2	NP_001306146.1:p.(Glu226Lys)	NC_000015.9:g.75014763C>T	VUS	1 lab	23ce89d5ef
10:61868715 ANK3 C>T	10	61868715	61868715	C	T	ANK3	c.3046G>A	NM_020987.5	NP_066267.2:p.(Ala1016Thr)	NC_000010.10:g.61868715C>T	VUS	1 lab	23cf449cdb
19:48668866 LIG1 G>A	19	48668866	48668866	G	A	LIG1	c.-43C>T	NM_000234.3	NP_000225.1:p.?	NC_000019.9:g.48668866G>A	VUS	1 lab	23d0eaff95
9:139385878 MISSING C>T	9	139385878	139385878	C	T	MISSING				NC_000009.11:g.139385878C>T	(Likely) benign	1 lab	23d17ecbc8
7:50605552 DDC C>A	7	50605552	50605552	C	A	DDC	c.435+6G>T	NM_001082971.2	NP_001076440.2:p.?	NC_000007.13:g.50605552C>A	VUS	1 lab	23d3c2cad9
11:61094272 DDB1 C>T	11	61094272	61094272	C	T	DDB1	c.643G>A	NM_001923.5	NP_001914.3:p.(Glu215Lys)	NC_000011.9:g.61094272C>T	(Likely) pathogenic	1 lab	23d497cf6b
19:44030450 ETHE1 G>A	19	44030450	44030450	G	A	ETHE1	c.278C>T	NM_014297.5	NP_055112.2:p.(Ser93Phe)	NC_000019.9:g.44030450G>A	VUS	1 lab	23d4f00fc6
9:27158003 TEK A>G	9	27158003	27158003	A	G	TEK	c.227A>G	NM_000459.5	NP_000450.3:p.(Gln76Arg)	NC_000009.11:g.27158003A>G	VUS	1 lab	23d5056470
13:101748041 NALCN A>T	13	101748041	101748041	A	T	NALCN	c.3163-10T>A	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101748041A>T	(Likely) benign	1 lab	23d673d3ad
1:225445820 DNAH14 G>A	1	225445820	225445820	G	A	DNAH14	c.7024G>A	NM_001367479.1	NP_001354408.1:p.(Gly2342Arg)	NC_000001.10:g.225445820G>A	VUS	1 lab	23d6b33225
19:42753207 ERF T>C	19	42753207	42753207	T	C	ERF	c.1057A>G	NM_006494.4	NP_006485.2:p.(Met353Val)	NC_000019.9:g.42753207T>C	(Likely) benign	1 lab	23d735448b
10:112352986 SMC3 G>T	10	112352986	112352986	G	T	SMC3	c.1963+5G>T	NM_005445.4	NP_005436.1:p.?	NC_000010.10:g.112352986G>T	VUS	1 lab	23d7da4cec
1:6185604 CHD5 G>A	1	6185604	6185604	G	A	CHD5	c.4240C>T	NM_015557.3	NP_056372.1:p.(Arg1414Ter)	NC_000001.10:g.6185604G>A	(Likely) pathogenic	1 lab	23d9172261
X:39923855 BCOR G>C	X	39923855	39923855	G	C	BCOR	c.3239-3C>G	NM_001123385.2	NP_001116857.1:p.?	NC_000023.10:g.39923855G>C	VUS	1 lab	23d98cc041
14:32560112 ARHGAP5 A>G	14	32560112	32560112	A	G	ARHGAP5	c.237A>G	NM_001030055.2	NP_001025226.1:p.(Ile79Met)	NC_000014.8:g.32560112A>G	VUS	1 lab	23dad84c22
12:110222133 TRPV4 G>A	12	110222133	110222133	G	A	TRPV4	c.2446C>T	NM_021625.5	NP_067638.3:p.(Arg816Cys)	NC_000012.11:g.110222133G>A	(Likely) benign	1 lab	23dc016b95
1:12018669 PLOD1 C>G	1	12018669	12018669	C	G	PLOD1	c.940C>G	NM_000302.4	NP_000293.2:p.(Pro314Ala)	NC_000001.10:g.12018669C>G	VUS	1 lab	23dc1e5c41
1:154569591 ADAR C>T	1	154569591	154569591	C	T	ADAR	c.2079+8G>A	NM_001111.5	NP_001102.3:p.?	NC_000001.10:g.154569591C>T	(Likely) benign	1 lab	1bfd6101fc
12:48369303 COL2A1 G>C	12	48369303	48369303	G	C	COL2A1	c.3683C>G	NM_001844.5	NP_001835.3:p.(Pro1228Arg)	NC_000012.11:g.48369303G>C	(Likely) benign	1 lab	23dd45a5f9
5:37000568 NIPBL A>G	5	37000568	37000568	A	G	NIPBL	c.3398A>G	NM_133433.4	NP_597677.2:p.(His1133Arg)	NC_000005.9:g.37000568A>G	VUS	1 lab	23dd6a1f47
3:14712405 CCDC174 T>G	3	14712405	14712405	T	G	CCDC174	c.1108T>G	NM_016474.5	NP_057558.3:p.(Phe370Val)	NC_000003.11:g.14712405T>G	(Likely) benign	1 lab	23ddc2d8b8
4:79443837 FRAS1 A>T	4	79443837	79443837	A	T	FRAS1	c.10683A>T	NM_025074.7	NP_079350.5:p.(Glu3561Asp)	NC_000004.11:g.79443837A>T	(Likely) benign	1 lab	1bfd8f4ed8
14:94088687 UNC79 A>C	14	94088687	94088687	A	C	UNC79	c.5324A>C	NM_001395159.1	NP_001382088.1:p.(Asn1775Thr)	NC_000014.8:g.94088687A>C	(Likely) benign	1 lab	23e01f086b
16:2167894 PKD1 CCGAGGACGGGCACA>C	16	2167894	2167912	CCGAGGACGGGCACA	C	PKD1	c.1085_1098del	NM_001009944.3	NP_001009944.3:p.(Val362GlyfsTer4)	NC_000016.9:g.2167899_2167912del	(Likely) pathogenic	1 lab	23e25e67df
15:33895396 RYR3 T>G	15	33895396	33895396	T	G	RYR3	c.1995T>G	NM_001036.6	NP_001027.3:p.(Ile665Met)	NC_000015.9:g.33895396T>G	VUS	1 lab	23e4f08ffe
20:47990250 KCNB1 G>C	20	47990250	47990250	G	C	KCNB1	c.1847C>G	NM_004975.4	NP_004966.1:p.(Thr616Ser)	NC_000020.10:g.47990250G>C	(Likely) benign	1 lab	23e6724c04
7:99802331 STAG3 C>T	7	99802331	99802331	C	T	STAG3	c.2884C>T	NM_001282717.2	NP_001269646.1:p.(Arg962Trp)	NC_000007.13:g.99802331C>T	(Likely) benign	1 lab	23e7eae23d
19:18888042 CRTC1 C>T	19	18888042	18888042	C	T	CRTC1	c.1755C>T	NM_015321.3	NP_056136.2:p.(Gly585=)	NC_000019.9:g.18888042C>T	VUS	1 lab	23e81d1b40
16:1544448 TELO2 T>C	16	1544448	1544448	T	C	TELO2	c.166T>C	NM_016111.4	NP_057195.2:p.(Ser56Pro)	NC_000016.9:g.1544448T>C	(Likely) benign	1 lab	23e9af47d1
3:9782632 BRPF1 T>G	3	9782632	9782632	T	G	BRPF1	c.1722+7T>G	NM_001003694.2	NP_001003694.1:p.?	NC_000003.11:g.9782632T>G	(Likely) benign	1 lab	23ea09b4f5
5:7896972 MTRR C>CTTTT	5	7896972	7896975	C	CTTTT	MTRR	c.1677-3_1677-2insTTTT	NM_002454.3	NP_002445.2:p.?	NC_000005.9:g.7896974_7896975insTTTT	(Likely) benign	1 lab	23eaea7a2c
21:43339039 C2CD2 C>G	21	43339039	43339039	C	G	C2CD2	c.523G>C	NM_015500.2	NP_056315.1:p.(Asp175His)	NC_000021.8:g.43339039C>G	(Likely) benign	1 lab	23ec0f8f3b
X:8434280 VCX3B G>C	X	8434280	8434280	G	C	VCX3B	c.597G>C	NM_001001888.4	NP_001001888.3:p.(Gln199His)	NC_000023.10:g.8434280G>C	VUS	1 lab	23ec4aeb2d
9:139391113 NOTCH1 A>G	9	139391113	139391113	A	G	NOTCH1	c.7078T>C	NM_017617.5	NP_060087.3:p.(Ser2360Pro)	NC_000009.11:g.139391113A>G	VUS	1 lab	23ec7f1241
7:47927580 PKD1L1 C>A	7	47927580	47927580	C	A	PKD1L1	c.2836+8G>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47927580C>A	(Likely) benign	1 lab	23ecca04dc
1:61872231 NFIA CAG>C	1	61872231	61872233	CAG	C	NFIA	c.1255-2_1255-1del	NM_001134673.4	NP_001128145.1:p.?	NC_000001.10:g.61872232_61872233del	(Likely) benign	1 lab	23eedb4928
4:995664 IDUA A>T	4	995664	995664	A	T	IDUA	c.787A>T	NM_000203.5	NP_000194.2:p.(Arg263Trp)	NC_000004.11:g.995664A>T	VUS	1 lab	23f2d0bbe0
2:176957671 HOXD13 G>T	2	176957671	176957671	G	T	HOXD13	c.53G>T	NM_000523.4	NP_000514.2:p.(Gly18Val)	NC_000002.11:g.176957671G>T	VUS	1 lab	23f53bf1e5
12:112915717 PTPN11 A>C	12	112915717	112915717	A	C	PTPN11	c.990A>C	NM_002834.5	NP_002825.3:p.(Thr330=)	NC_000012.11:g.112915717A>C	(Likely) benign	1 lab	23f63c12df
2:20178625 WDR35 T>G	2	20178625	20178625	T	G	WDR35	c.323A>C	NM_020779.4	NP_065830.2:p.(Glu108Ala)	NC_000002.11:g.20178625T>G	VUS	1 lab	23f88fb5f4
16:55866952 CES1 A>G	16	55866952	55866952	A	G	CES1	c.16T>C	NM_001025195.2	NP_001020366.1:p.(Phe6Leu)	NC_000016.9:g.55866952A>G	(Likely) benign	1 lab	23fa9b7175
11:119059199 NHERF4 G>C	11	119059199	119059199	G	C	NHERF4	c.998G>C	NM_001168468.2	NP_001161940.1:p.(Gly333Ala)	NC_000011.9:g.119059199G>C	VUS	1 lab	23fac19659
16:88721816 MVD C>T	16	88721816	88721816	C	T	MVD	c.688G>A	NM_002461.3	NP_002452.1:p.(Glu230Lys)	NC_000016.9:g.88721816C>T	(Likely) benign	1 lab	23fb059fcc
21:46876568 COL18A1 GC>G	21	46876568	46876570	GC	G	COL18A1	c.107-11586del	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46876570del	VUS	1 lab	23fb9eff07
19:13318607 CACNA1A C>G	19	13318607	13318607	C	G	CACNA1A	c.7041G>C	NM_001127222.2	NP_001120694.1:p.(Glu2347Asp)	NC_000019.9:g.13318607C>G	VUS	1 lab	23fcc736c3
11:62349170 TUT1 C>T	11	62349170	62349170	C	T	TUT1	c.277G>A	NM_022830.3	NP_073741.3:p.(Val93Met)	NC_000011.9:g.62349170C>T	VUS	1 lab	23fd1ae78d
2:231865159 SPATA3 G>A	2	231865159	231865159	G	A	SPATA3	c.380G>A	NM_139073.5	NP_620712.2:p.(Gly127Glu)	NC_000002.11:g.231865159G>A	VUS	1 lab	23fe778cf6
16:21071623 DNAH3 G>A	16	21071623	21071623	G	A	DNAH3	c.3637C>T	NM_001347886.2	NP_001334815.1:p.(Arg1213Ter)	NC_000016.9:g.21071623G>A	VUS	1 lab	23ff6bc043
15:79059020 ADAMTS7 T>TA	15	79059020	79059021	T	TA	ADAMTS7	c.3232dup	NM_014272.5	NP_055087.2:p.(Tyr1078LeufsTer5)	NC_000015.9:g.79059021dup	VUS	1 lab	2400a87076
2:27324253 CGREF1 GGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTTCA>G	2	27324253	27324390	GGCCTCTGCCTGGCCCCCAGCTTCCCCTCTGGGCCCGGGGGCATCTCCTTCA	G	CGREF1	c.795_845del	NM_006569.6	NP_006560.3:p.(Glu266_Ala282del)	NC_000002.11:g.27324340_27324390del	(Likely) benign	1 lab	2400b2b69d
2:148701097 ORC4 AG>A	2	148701097	148701099	AG	A	ORC4	c.763-7del	NM_181741.4	NP_859525.1:p.?	NC_000002.11:g.148701099del	(Likely) benign	1 lab	240109bbab
8:145006356 PLEC A>G	8	145006356	145006356	A	G	PLEC	c.2024T>C	NM_201384.3	NP_958786.1:p.(Leu675Pro)	NC_000008.10:g.145006356A>G	VUS	1 lab	24039fe5e8
3:17226601 TBC1D5 C>G	3	17226601	17226601	C	G	TBC1D5	c.1918G>C	NM_001349074.2	NP_001336003.1:p.(Val640Leu)	NC_000003.11:g.17226601C>G	(Likely) benign	1 lab	24043130a3
15:89398940 ACAN ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG>A	15	89398940	89399167	ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A	ACAN	c.3181_3351del	NM_001369268.1	NP_001356197.1:p.(Thr1061_Thr1117del)	NC_000015.9:g.89398997_89399167del	VUS	1 lab	24045e2b5c
19:36214897 KMT2B C>T	19	36214897	36214897	C	T	KMT2B	c.3323C>T	NM_014727.3	NP_055542.1:p.(Pro1108Leu)	NC_000019.9:g.36214897C>T	(Likely) benign	1 lab	1bbe07f8c8
10:37508578 ANKRD30A CTG>C	10	37508578	37508580	CTG	C	ANKRD30A	c.3939_3940del	NM_052997.3	NP_443723.3:p.(Glu1314ThrfsTer28)	NC_000010.10:g.37508579_37508580del	VUS	1 lab	2405090994
4:147830358 TTC29 G>A	4	147830358	147830358	G	A	TTC29	c.220C>T	NM_031956.4	NP_114162.2:p.(Arg74Ter)	NC_000004.11:g.147830358G>A	VUS	1 lab	2408cfcaa8
19:58265687 ZNF776 G>C	19	58265687	58265687	G	C	ZNF776	c.1189G>C	NM_173632.4	NP_775903.3:p.(Val397Leu)	NC_000019.9:g.58265687G>C	(Likely) benign	1 lab	240a6ad7a5
X:151806702 GABRQ A>T	X	151806702	151806702	A	T	GABRQ	c.46A>T	NM_018558.4	NP_061028.3:p.(Ile16Phe)	NC_000023.10:g.151806702A>T	VUS	1 lab	240ae6449d
3:158363463 GFM1 A>G	3	158363463	158363463	A	G	GFM1	c.127A>G	NM_024996.7	NP_079272.4:p.(Asn43Asp)	NC_000003.11:g.158363463A>G	(Likely) benign	1 lab	240c21a68c
11:65988161 PACS1 G>C	11	65988161	65988161	G	C	PACS1	c.1098G>C	NM_018026.4	NP_060496.2:p.(Leu366Phe)	NC_000011.9:g.65988161G>C	(Likely) benign	1 lab	240e79150e
13:111121615 COL4A2 C>G	13	111121615	111121615	C	G	COL4A2	c.2147C>G	NM_001846.4	NP_001837.2:p.(Pro716Arg)	NC_000013.10:g.111121615C>G	(Likely) benign	1 lab	240edccb7e
12:113753245 SLC8B1 C>T	12	113753245	113753245	C	T	SLC8B1	c.1030G>A	NM_001358345.2	NP_001345274.1:p.(Val344Ile)	NC_000012.11:g.113753245C>T	(Likely) benign	1 lab	24139bc762
5:157178434 LSM11 G>A	5	157178434	157178434	G	A	LSM11	c.485G>A	NM_173491.4	NP_775762.1:p.(Cys162Tyr)	NC_000005.9:g.157178434G>A	VUS	1 lab	241625e07a
2:234545998 UGT1A10 G>A	2	234545998	234545998	G	A	UGT1A10	c.830G>A	NM_019075.4	NP_061948.1:p.(Cys277Tyr)	NC_000002.11:g.234545998G>A	VUS	1 lab	2416f113c9
2:241727608 KIF1A G>A	2	241727608	241727608	G	A	KIF1A	c.223C>T	NM_001244008.2	NP_001230937.1:p.(Arg75Trp)	NC_000002.11:g.241727608G>A	(Likely) pathogenic	1 lab	2417d89a91
1:156106034 LMNA A>T	1	156106034	156106034	A	T	LMNA	c.1187A>T	NM_170707.4	NP_733821.1:p.(Gln396Leu)	NC_000001.10:g.156106034A>T	VUS	1 lab	2417569ae3
11:46897430 LRP4 G>C	11	46897430	46897430	G	C	LRP4	c.3624C>G	NM_002334.4	NP_002325.2:p.(Asn1208Lys)	NC_000011.9:g.46897430G>C	VUS	1 lab	241b11dca1
14:23859674 MYH6 G>C	14	23859674	23859674	G	C	MYH6	c.3343-19C>G	NM_002471.3	NP_002462.2:p.?	NC_000014.8:g.23859674G>C	(Likely) benign	1 lab	1c001ea803
18:10890266 PIEZO2 T>A	18	10890266	10890266	T	A	PIEZO2	c.330-18853A>T	NM_001378183.1	NP_001365112.1:p.?	NC_000018.9:g.10890266T>A	(Likely) benign	1 lab	241c459065
X:120007854 CT47B1 C>T	X	120007854	120007854	C	T	CT47B1	c.796G>A	NM_001145718.3	NP_001139190.1:p.(Glu266Lys)	NC_000023.10:g.120007854C>T	VUS	1 lab	241e03c764
7:75608844 POR G>A	7	75608844	75608844	G	A	POR	c.313G>A	NM_000941.3	NP_000932.3:p.(Ala105Thr)	NC_000007.13:g.75608844G>A	VUS	1 lab	241e60221f
6:91256997 MAP3K7 G>A	6	91256997	91256997	G	A	MAP3K7	c.1190C>T	NM_145331.3	NP_663304.1:p.(Ala397Val)	NC_000006.11:g.91256997G>A	VUS	1 lab	242042b9ec
19:35617413 LGI4 G>T	19	35617413	35617413	G	T	LGI4	c.1060C>A	NM_139284.3	NP_644813.1:p.(Pro354Thr)	NC_000019.9:g.35617413G>T	VUS	1 lab	2420544331
2:48027196 MSH6 A>C	2	48027196	48027196	A	C	MSH6	c.2074A>C	NM_000179.3	NP_000170.1:p.(Lys692Gln)	NC_000002.11:g.48027196A>C	VUS	1 lab	2420a0f260
4:81974545 BMP3 C>T	4	81974545	81974545	C	T	BMP3	c.1274C>T	NM_001201.5	NP_001192.4:p.(Ala425Val)	NC_000004.11:g.81974545C>T	VUS	1 lab	24227e9331
X:70597573 TAF1 G>C	X	70597573	70597573	G	C	TAF1	c.835G>C	NM_004606.5	NP_004597.3:p.(Val279Leu)	NC_000023.10:g.70597573G>C	VUS	1 lab	2422c7e292
12:6639045 NCAPD2 A>T	12	6639045	6639045	A	T	NCAPD2	c.3758A>T	NM_014865.4	NP_055680.3:p.(Lys1253Ile)	NC_000012.11:g.6639045A>T	VUS	1 lab	24235c0a24
11:19955363 NAV2 A>G	11	19955363	19955363	A	G	NAV2	c.1573A>G	NM_145117.5	NP_660093.2:p.(Ser525Gly)	NC_000011.9:g.19955363A>G	(Likely) benign	1 lab	24249fa21f
15:55664165 CCPG1 G>A	15	55664165	55664165	G	A	CCPG1	c.532C>T	NM_001204450.2	NP_001191379.1:p.(Arg178Cys)	NC_000015.9:g.55664165G>A	VUS	1 lab	2424c55f6c
2:220367167 GMPPA A>T	2	220367167	220367167	A	T	GMPPA	c.489+4A>T	NM_013335.4	NP_037467.2:p.?	NC_000002.11:g.220367167A>T	VUS	1 lab	2426cd66d7
X:153070670 PDZD4 G>C	X	153070670	153070670	G	C	PDZD4	c.670-8C>G	NM_001303512.2	NP_001290441.1:p.?	NC_000023.10:g.153070670G>C	VUS	1 lab	2426e5f55b
3:12957095 IQSEC1 G>A	3	12957095	12957095	G	A	IQSEC1	c.2159C>T	NM_001134382.3	NP_001127854.1:p.(Pro720Leu)	NC_000003.11:g.12957095G>A	VUS	1 lab	2426ec6e83
16:2168390 PKD1 G>C	16	2168390	2168390	G	C	PKD1	c.603C>G	NM_001009944.3	NP_001009944.3:p.(His201Gln)	NC_000016.9:g.2168390G>C	(Likely) benign	1 lab	2427e420ec
1:149400212 H3-7 A>C	1	149400212	149400212	A	C	H3-7	c.331T>G	NM_001372105.2	NP_001359034.1:p.(Cys111Gly)	NC_000001.10:g.149400212A>C	VUS	1 lab	242a68fd59
17:27849434 TAOK1 A>G	17	27849434	27849434	A	G	TAOK1	c.2045A>G	NM_020791.4	NP_065842.1:p.(His682Arg)	NC_000017.10:g.27849434A>G	(Likely) pathogenic	1 lab	242ab16858
2:54845225 SPTBN1 A>G	2	54845225	54845225	A	G	SPTBN1	c.658A>G	NM_003128.3	NP_003119.2:p.(Ile220Val)	NC_000002.11:g.54845225A>G	VUS	1 lab	242c242a24
1:182026104 ZNF648 A>C	1	182026104	182026104	A	C	ZNF648	c.1042T>G	NM_001009992.1	NP_001009992.1:p.(Ser348Ala)	NC_000001.10:g.182026104A>C	VUS	1 lab	242e79bab2
8:144993527 PLEC C>T	8	144993527	144993527	C	T	PLEC	c.10462G>A	NM_201384.3	NP_958786.1:p.(Ala3488Thr)	NC_000008.10:g.144993527C>T	VUS	1 lab	242f40cc03
9:139390559 NOTCH1 C>G	9	139390559	139390559	C	G	NOTCH1	c.7632G>C	NM_017617.5	NP_060087.3:p.(Gln2544His)	NC_000009.11:g.139390559C>G	VUS	1 lab	242f881c37
4:72313356 SLC4A4 C>G	4	72313356	72313356	C	G	SLC4A4	c.966-7C>G	NM_001098484.3	NP_001091954.1:p.?	NC_000004.11:g.72313356C>G	VUS	1 lab	24331c8af2
19:5110813 KDM4B G>A	19	5110813	5110813	G	A	KDM4B	c.1099G>A	NM_015015.3	NP_055830.1:p.(Ala367Thr)	NC_000019.9:g.5110813G>A	VUS	1 lab	243356dbb9
17:7749715 KDM6B CAGG>C	17	7749715	7749718	CAGG	C	KDM6B	c.457-2_457del	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7749716_7749718del	(Likely) benign	1 lab	2434bdfb7e
3:113003368 BOC ACCCGGGCATGAAGC>A	3	113003368	113003385	ACCCGGGCATGAAGC	A	BOC	c.2847_2860del	NM_001378074.1	NP_001365003.1:p.(Gly950AlafsTer12)	NC_000003.11:g.113003372_113003385del	VUS	1 lab	2434ed7e03
13:33271023 PDS5B A>G	13	33271023	33271023	A	G	PDS5B	c.1584A>G	NM_015032.4	NP_055847.1:p.(Lys528=)	NC_000013.10:g.33271023A>G	VUS	1 lab	2435760536
8:28574507 EXTL3 G>A	8	28574507	28574507	G	A	EXTL3	c.931G>A	NM_001440.4	NP_001431.1:p.(Gly311Ser)	NC_000008.10:g.28574507G>A	VUS	1 lab	24359dd3c9
18:2698042 SMCHD1 A>G	18	2698042	2698042	A	G	SMCHD1	c.1342+3A>G	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2698042A>G	VUS	1 lab	24fa4e0677
1:214560201 PTPN14 G>A	1	214560201	214560201	G	A	PTPN14	c.1052C>T	NM_005401.5	NP_005392.2:p.(Thr351Met)	NC_000001.10:g.214560201G>A	(Likely) benign	1 lab	243694bef2
6:90494813 MDN1 G>A	6	90494813	90494813	G	A	MDN1	c.1367C>T	NM_014611.3	NP_055426.1:p.(Pro456Leu)	NC_000006.11:g.90494813G>A	VUS	1 lab	2436ae9405
5:89949251 ADGRV1 T>C	5	89949251	89949251	T	C	ADGRV1	c.3860T>C	NM_032119.4	NP_115495.3:p.(Ile1287Thr)	NC_000005.9:g.89949251T>C	VUS	1 lab	2436d8135d
4:1808941 FGFR3 C>A	4	1808941	1808941	C	A	FGFR3	c.2373C>A	NM_000142.5	NP_000133.1:p.(His791Gln)	NC_000004.11:g.1808941C>A	VUS	1 lab	2438853768
20:43959185 SDC4 A>G	20	43959185	43959185	A	G	SDC4	c.266T>C	NM_002999.4	NP_002990.2:p.(Ile89Thr)	NC_000020.10:g.43959185A>G	VUS	1 lab	2439002a65
7:75692891 MDH2 T>TC	7	75692891	75692892	T	TC	MDH2	c.615dup	NM_005918.4	NP_005909.2:p.(Ile206HisfsTer36)	NC_000007.13:g.75692892dup	VUS	1 lab	243ab50fdc
1:182993274 LAMC1 G>A	1	182993274	182993274	G	A	LAMC1	c.418+5G>A	NM_002293.4	NP_002284.3:p.?	NC_000001.10:g.182993274G>A	VUS	1 lab	243cd55bc8
3:133368356 TOPBP1 C>G	3	133368356	133368356	C	G	TOPBP1	c.1375G>C	NM_007027.4	NP_008958.2:p.(Glu459Gln)	NC_000003.11:g.133368356C>G	VUS	1 lab	243db18891
5:56111585 MAP3K1 T>G	5	56111585	56111585	T	G	MAP3K1	c.185T>G	NM_005921.2	NP_005912.1:p.(Leu62Arg)	NC_000005.9:g.56111585T>G	VUS	1 lab	243fb49cec
2:179414318 TTN C>T	2	179414318	179414318	C	T	TTN	c.92131G>A	NM_001267550.2	NP_001254479.2:p.(Val30711Met)	NC_000002.11:g.179414318C>T	(Likely) benign	1 lab	1bc481a250
2:240121714 HDAC4 G>A	2	240121714	240121714	G	A	HDAC4	c.95-9941C>T	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240121714G>A	(Likely) benign	1 lab	244308ed75
7:4169607 SDK1 A>C	7	4169607	4169607	A	C	SDK1	c.4007A>C	NM_152744.4	NP_689957.3:p.(Gln1336Pro)	NC_000007.13:g.4169607A>C	(Likely) benign	1 lab	244336e4b3
21:47418044 COL6A1 G>A	21	47418044	47418044	G	A	COL6A1	c.1534G>A	NM_001848.3	NP_001839.2:p.(Gly512Ser)	NC_000021.8:g.47418044G>A	VUS	1 lab	24482f97e4
14:39562437 SEC23A T>C	14	39562437	39562437	T	C	SEC23A	c.233A>G	NM_006364.4	NP_006355.2:p.(Tyr78Cys)	NC_000014.8:g.39562437T>C	VUS	1 lab	2448dcea11
8:133980112 TG C>T	8	133980112	133980112	C	T	TG	c.5760C>T	NM_003235.5	NP_003226.4:p.(Thr1920=)	NC_000008.10:g.133980112C>T	(Likely) benign	1 lab	1c01ce2da0
7:56172118 CHCHD2 G>A	7	56172118	56172118	G	A	CHCHD2	c.101C>T	NM_016139.4	NP_057223.1:p.(Pro34Leu)	NC_000007.13:g.56172118G>A	VUS	1 lab	2449f1e807
8:144996883 PLEC C>T	8	144996883	144996883	C	T	PLEC	c.7214G>A	NM_201384.3	NP_958786.1:p.(Arg2405His)	NC_000008.10:g.144996883C>T	VUS	1 lab	244a69338d
9:95481023 BICD2 C>T	9	95481023	95481023	C	T	BICD2	c.1904G>A	NM_001003800.2	NP_001003800.1:p.(Arg635His)	NC_000009.11:g.95481023C>T	(Likely) benign	1 lab	244a7ad885
10:31608180 ZEB1 G>A	10	31608180	31608180	G	A	ZEB1	c.17G>A	NM_001174096.2	NP_001167567.1:p.(Arg6Lys)	NC_000010.10:g.31608180G>A	(Likely) benign	1 lab	244a8d9017
4:47667266 CORIN T>TGC	4	47667266	47667267	T	TGC	CORIN	c.1371_1372insGC	NM_006587.4	NP_006578.2:p.(Ile458AlafsTer8)	NC_000004.11:g.47667266_47667267insGC	VUS	1 lab	244b41fd86
11:118895925 SLC37A4 C>T	11	118895925	118895925	C	T	SLC37A4	c.1099G>A	NM_001164277.2	NP_001157749.1:p.(Ala367Thr)	NC_000011.9:g.118895925C>T	(Likely) pathogenic	1 lab	244bcfc05b
19:38974100 RYR1 C>G	19	38974100	38974100	C	G	RYR1	c.4878C>G	NM_000540.3	NP_000531.2:p.(Ala1626=)	NC_000019.9:g.38974100C>G	(Likely) benign	1 lab	244c4b6b97
6:135754264 AHI1 G>A	6	135754264	135754264	G	A	AHI1	c.2167C>T	NM_001134831.2	NP_001128303.1:p.(Arg723Trp)	NC_000006.11:g.135754264G>A	VUS	1 lab	244e4ba24e
8:70533375 SULF1 C>G	8	70533375	70533375	C	G	SULF1	c.1483C>G	NM_001128205.2	NP_001121677.1:p.(Arg495Gly)	NC_000008.10:g.70533375C>G	(Likely) benign	1 lab	244f2b9371
1:22170681 HSPG2 G>A	1	22170681	22170681	G	A	HSPG2	c.8576C>T	NM_005529.7	NP_005520.4:p.(Thr2859Met)	NC_000001.10:g.22170681G>A	VUS	1 lab	244f9c2d2d
8:95406068 RAD54B A>G	8	95406068	95406068	A	G	RAD54B	c.1421T>C	NM_012415.3	NP_036547.1:p.(Ile474Thr)	NC_000008.10:g.95406068A>G	VUS	1 lab	244fcb7242
13:110831336 COL4A1 C>G	13	110831336	110831336	C	G	COL4A1	c.2392G>C	NM_001845.6	NP_001836.3:p.(Val798Leu)	NC_000013.10:g.110831336C>G	(Likely) benign	1 lab	1c029c6093
16:84218482 TAF1C G>A	16	84218482	84218482	G	A	TAF1C	c.113C>T	NM_001243156.2	NP_001230085.2:p.(Pro38Leu)	NC_000016.9:g.84218482G>A	VUS	1 lab	2450a62d44
11:118361967 KMT2A A>T	11	118361967	118361967	A	T	KMT2A	c.4753A>T	NM_001197104.2	NP_001184033.1:p.(Met1585Leu)	NC_000011.9:g.118361967A>T	VUS	1 lab	2452b65491
2:47739524 KCNK12 C>T	2	47739524	47739524	C	T	KCNK12	c.*8522G>A	NM_022055.2	NP_071338.1:p.?	NC_000002.11:g.47739524C>T	(Likely) benign	1 lab	2453fc7bef
16:84902472 CRISPLD2 G>A	16	84902472	84902472	G	A	CRISPLD2	c.869G>A	NM_031476.4	NP_113664.1:p.(Cys290Tyr)	NC_000016.9:g.84902472G>A	VUS	1 lab	2454bd854c
6:33154459 COL11A2 G>A	6	33154459	33154459	G	A	COL11A2	c.743C>T	NM_080680.3	NP_542411.2:p.(Pro248Leu)	NC_000006.11:g.33154459G>A	VUS	1 lab	2455f8fa0a
11:67939107 KMT5B C>T	11	67939107	67939107	C	T	KMT5B	c.723G>A	NM_017635.5	NP_060105.3:p.(Met241Ile)	NC_000011.9:g.67939107C>T	VUS	1 lab	3414e66790
5:1201769 SLC6A19 G>T	5	1201769	1201769	G	T	SLC6A19	c.4G>T	NM_001003841.3	NP_001003841.1:p.(Val2Leu)	NC_000005.9:g.1201769G>T	VUS	1 lab	1bc6c0776c
2:86308105 POLR1A C>T	2	86308105	86308105	C	T	POLR1A	c.924-4G>A	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86308105C>T	(Likely) benign	1 lab	245711ec19
4:46060393 GABRG1 G>GA	4	46060393	46060401	G	GA	GABRG1	c.764-8dup	NM_173536.4	NP_775807.2:p.?	NC_000004.11:g.46060401dup	VUS	1 lab	2457c53ac0
14:65259917 SPTB G>A	14	65259917	65259917	G	A	SPTB	c.2464C>T	NM_001355436.2	NP_001342365.1:p.(Arg822Trp)	NC_000014.8:g.65259917G>A	VUS	1 lab	2459101a60
9:126125327 CRB2 G>A	9	126125327	126125327	G	A	CRB2	c.278G>A	NM_173689.7	NP_775960.4:p.(Arg93His)	NC_000009.11:g.126125327G>A	(Likely) benign	1 lab	2459a4290a
9:98231239 PTCH1 G>A	9	98231239	98231239	G	A	PTCH1	c.2044C>T	NM_000264.5	NP_000255.2:p.(Arg682Cys)	NC_000009.11:g.98231239G>A	(Likely) benign	1 lab	245be5aefa
10:105821221 COL17A1 C>T	10	105821221	105821221	C	T	COL17A1	c.921G>A	NM_000494.4	NP_000485.3:p.(Val307=)	NC_000010.10:g.105821221C>T	(Likely) benign	1 lab	245d44cbaa
X:140786484 SPANXD G>A	X	140786484	140786484	G	A	SPANXD	c.72+7C>T	NM_032417.4	NP_115793.1:p.?	NC_000023.10:g.140786484G>A	(Likely) benign	1 lab	245dcc216e
4:960957 DGKQ G>A	4	960957	960957	G	A	DGKQ	c.1180C>T	NM_001347.4	NP_001338.2:p.(Arg394Trp)	NC_000004.11:g.960957G>A	(Likely) benign	1 lab	245f3fb108
13:32914166 BRCA2 G>A	13	32914166	32914166	G	A	BRCA2	c.5674G>A	NM_000059.4	NP_000050.3:p.(Gly1892Ser)	NC_000013.10:g.32914166G>A	VUS	1 lab	245fd9aed5
6:101079088 ASCC3 G>A	6	101079088	101079088	G	A	ASCC3	c.4124C>T	NM_006828.4	NP_006819.2:p.(Ala1375Val)	NC_000006.11:g.101079088G>A	VUS	1 lab	246077d45b
19:35435632 ZNF30 C>T	19	35435632	35435632	C	T	ZNF30	c.1762C>T	NM_194325.3	NP_919306.2:p.(Arg588Trp)	NC_000019.9:g.35435632C>T	(Likely) benign	1 lab	2461e07ebb
21:34927442 SON CGCCGCA>C	21	34927442	34927454	CGCCGCA	C	SON	c.5912_5917del	NM_138927.4	NP_620305.3:p.(Ser1971_Arg1972del)	NC_000021.8:g.34927449_34927454del	VUS	1 lab	2464261861
17:56770113 RAD51C G>C	17	56770113	56770113	G	C	RAD51C	c.109G>C	NM_058216.3	NP_478123.1:p.(Glu37Gln)	NC_000017.10:g.56770113G>C	VUS	1 lab	2464c74002
2:179430988 TTN A>T	2	179430988	179430988	A	T	TTN	c.79871T>A	NM_001267550.2	NP_001254479.2:p.(Ile26624Asn)	NC_000002.11:g.179430988A>T	VUS	1 lab	2464d9225d
7:131982880 PLXNA4 G>T	7	131982880	131982880	G	T	PLXNA4	c.1473C>A	NM_020911.2	NP_065962.1:p.(His491Gln)	NC_000007.13:g.131982880G>T	(Likely) benign	1 lab	2465f194e2
11:31669298 ELP4 A>G	11	31669298	31669298	A	G	ELP4	c.937A>G	NM_019040.5	NP_061913.3:p.(Ile313Val)	NC_000011.9:g.31669298A>G	(Likely) benign	1 lab	2465fe9c49
8:42977593 POMK C>T	8	42977593	42977593	C	T	POMK	c.626C>T	NM_032237.5	NP_115613.1:p.(Pro209Leu)	NC_000008.10:g.42977593C>T	VUS	1 lab	246672d225
12:72028034 ZFC3H1 G>A	12	72028034	72028034	G	A	ZFC3H1	c.2411C>T	NM_144982.5	NP_659419.3:p.(Ser804Leu)	NC_000012.11:g.72028034G>A	(Likely) benign	1 lab	2466d0729c
17:79202873 TEPSIN G>T	17	79202873	79202873	G	T	TEPSIN	c.1637C>A	NM_001363764.2	NP_001350693.1:p.(Ala546Asp)	NC_000017.10:g.79202873G>T	VUS	1 lab	246784bb5e
3:112738411 RMP64 C>T	3	112738411	112738411	C	T	RMP64	c.84G>A	NM_015412.4	NP_056227.2:p.(Val28=)	NC_000003.11:g.112738411C>T	(Likely) benign	1 lab	2468a40537
4:6303881 WFS1 G>A	4	6303881	6303881	G	A	WFS1	c.2359G>A	NM_006005.3	NP_005996.2:p.(Ala787Thr)	NC_000004.11:g.6303881G>A	VUS	1 lab	24693ac6de
X:11157051 ARHGAP6 C>G	X	11157051	11157051	C	G	ARHGAP6	c.2857G>C	NM_013427.3	NP_038286.2:p.(Glu953Gln)	NC_000023.10:g.11157051C>G	(Likely) benign	1 lab	246ab34728
16:56534839 BBS2 A>G	16	56534839	56534839	A	G	BBS2	c.1324T>C	NM_031885.5	NP_114091.4:p.(Cys442Arg)	NC_000016.9:g.56534839A>G	(Likely) benign	1 lab	246ac5ed15
8:97321834 PTDSS1 C>T	8	97321834	97321834	C	T	PTDSS1	c.1057C>T	NM_014754.3	NP_055569.1:p.(Gln353Ter)	NC_000008.10:g.97321834C>T	VUS	1 lab	246db8c865
11:17408906 KCNJ11 C>A	11	17408906	17408906	C	A	KCNJ11	c.733G>T	NM_000525.4	NP_000516.3:p.(Gly245Cys)	NC_000011.9:g.17408906C>A	VUS	1 lab	246fc06fe9
13:21734128 SKA3 T>TTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGC	13	21734128	21734129	T	TTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGC	SKA3	c.830-3_830-2insGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAA	NM_145061.6	NP_659498.4:p.?	NC_000013.10:g.21734128_21734129insTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGC	VUS	1 lab	2470c17e65
1:44437913 DPH2 C>T	1	44437913	44437913	C	T	DPH2	c.1252C>T	NM_001384.5	NP_001375.2:p.(Arg418Ter)	NC_000001.10:g.44437913C>T	VUS	1 lab	2471374a2f
3:56789128 ARHGEF3 G>A	3	56789128	56789128	G	A	ARHGEF3	c.256C>T	NM_019555.3	NP_062455.1:p.(Pro86Ser)	NC_000003.11:g.56789128G>A	(Likely) benign	1 lab	247217368f
2:179408981 TTN C>G	2	179408981	179408981	C	G	TTN	c.95975G>C	NM_001267550.2	NP_001254479.2:p.(Gly31992Ala)	NC_000002.11:g.179408981C>G	VUS	1 lab	24726c4008
19:36333069 NPHS1 T>C	19	36333069	36333069	T	C	NPHS1	c.2620A>G	NM_004646.4	NP_004637.1:p.(Thr874Ala)	NC_000019.9:g.36333069T>C	(Likely) benign	1 lab	2472ce2763
11:108151766 ATM T>C	11	108151766	108151766	T	C	ATM	c.3447T>C	NM_000051.4	NP_000042.3:p.(Asn1149=)	NC_000011.9:g.108151766T>C	(Likely) benign	1 lab	2473a3230a
17:42453675 ITGA2B C>G	17	42453675	42453675	C	G	ITGA2B	c.2348+1G>C	NM_000419.5	NP_000410.2:p.?	NC_000017.10:g.42453675C>G	(Likely) pathogenic	1 lab	2476294a1d
9:71661361 FXN A>G	9	71661361	71661361	A	G	FXN	c.226A>G	NM_181425.3	NP_852090.1:p.(Met76Val)	NC_000009.11:g.71661361A>G	(Likely) benign	1 lab	1c04d9bf59
11:64507477 RASGRP2 G>A	11	64507477	64507477	G	A	RASGRP2	c.522+8C>T	NM_001098671.2	NP_001092141.1:p.?	NC_000011.9:g.64507477G>A	(Likely) benign	1 lab	24788ecc97
17:42155879 HDAC5 T>G	17	42155879	42155879	T	G	HDAC5	c.3318A>C	NM_005474.5	NP_005465.2:p.(Glu1106Asp)	NC_000017.10:g.42155879T>G	(Likely) benign	1 lab	247c584508
16:67663346 CTCF G>A	16	67663346	67663346	G	A	CTCF	c.1747G>A	NM_006565.4	NP_006556.1:p.(Val583Ile)	NC_000016.9:g.67663346G>A	(Likely) benign	1 lab	247d8b0a08
19:1592524 MBD3 T>C	19	1592524	1592524	T	C	MBD3	c.107A>G	NM_001281453.2	NP_001268382.1:p.(Tyr36Cys)	NC_000019.9:g.1592524T>C	(Likely) benign	1 lab	247ff6531c
X:153248009 TMEM187 G>A	X	153248009	153248009	G	A	TMEM187	c.496G>A	NM_003492.3	NP_003483.1:p.(Ala166Thr)	NC_000023.10:g.153248009G>A	VUS	1 lab	248020e4ae
10:49392706 FRMPD2 C>T	10	49392706	49392706	C	T	FRMPD2	c.2487G>A	NM_001018071.4	NP_001018081.4:p.(Leu829=)	NC_000010.10:g.49392706C>T	(Likely) benign	1 lab	24811483af
19:15298027 NOTCH3 T>C	19	15298027	15298027	T	C	NOTCH3	c.1729A>G	NM_000435.3	NP_000426.2:p.(Thr577Ala)	NC_000019.9:g.15298027T>C	VUS	1 lab	24813b86c7
5:14713681 ANKH C>T	5	14713681	14713681	C	T	ANKH	c.1237G>A	NM_054027.6	NP_473368.1:p.(Ala413Thr)	NC_000005.9:g.14713681C>T	VUS	1 lab	2482e2ae03
17:71204484 VCF1 A>G	17	71204484	71204484	A	G	VCF1	c.*1184T>C	NM_001098832.2	NP_001092302.1:p.?	NC_000017.10:g.71204484A>G	(Likely) benign	1 lab	248325fa38
20:62293251 RTEL1 C>T	20	62293251	62293251	C	T	RTEL1	c.350C>T	NM_001283009.2	NP_001269938.1:p.(Ser117Leu)	NC_000020.10:g.62293251C>T	VUS	1 lab	2484431f8b
12:9013484 A2ML1 T>C	12	9013484	9013484	T	C	A2ML1	c.3272T>C	NM_144670.6	NP_653271.3:p.(Val1091Ala)	NC_000012.11:g.9013484T>C	(Likely) benign	1 lab	2484ea9411
5:140503456 PCDHB4 G>C	5	140503456	140503456	G	C	PCDHB4	c.1876G>C	NM_018938.4	NP_061761.1:p.(Ala626Pro)	NC_000005.9:g.140503456G>C	VUS	1 lab	24855404a5
20:42169613 L3MBTL1 C>G	20	42169613	42169613	C	G	L3MBTL1	c.2434C>G	NM_001377303.1	NP_001364232.1:p.(Leu812Val)	NC_000020.10:g.42169613C>G	VUS	1 lab	2486192db4
13:42295608 VWA8 CT>C	13	42295608	42295610	CT	C	VWA8	c.2861del	NM_015058.2	NP_055873.1:p.(Lys954SerfsTer9)	NC_000013.10:g.42295610del	VUS	1 lab	2486ec84e3
2:73114625 SPR A>G	2	73114625	73114625	A	G	SPR	c.64A>G	NM_003124.5	NP_003115.1:p.(Thr22Ala)	NC_000002.11:g.73114625A>G	(Likely) benign	1 lab	248858e63f
1:19175884 TAS1R2 C>T	1	19175884	19175884	C	T	TAS1R2	c.1418G>A	NM_152232.6	NP_689418.2:p.(Arg473Gln)	NC_000001.10:g.19175884C>T	VUS	1 lab	2488857a17
X:142596869 SPANXN3 T>G	X	142596869	142596869	T	G	SPANXN3	c.201A>C	NM_001009609.4	NP_001009609.2:p.(Gln67His)	NC_000023.10:g.142596869T>G	VUS	1 lab	24896b095e
18:42530756 SETBP1 G>C	18	42530756	42530756	G	C	SETBP1	c.1451G>C	NM_015559.3	NP_056374.2:p.(Gly484Ala)	NC_000018.9:g.42530756G>C	(Likely) benign	1 lab	2489c748c8
5:37048536 NIPBL C>A	5	37048536	37048536	C	A	NIPBL	c.6590-68C>A	NM_133433.4	NP_597677.2:p.?	NC_000005.9:g.37048536C>A	(Likely) benign	1 lab	2489d1da30
1:44685487 DMAP1 C>T	1	44685487	44685487	C	T	DMAP1	c.988C>T	NM_019100.5	NP_061973.1:p.(Pro330Ser)	NC_000001.10:g.44685487C>T	VUS	1 lab	248c450648
2:179455605 TTN T>C	2	179455605	179455605	T	C	TTN	c.60847A>G	NM_001267550.2	NP_001254479.2:p.(Ile20283Val)	NC_000002.11:g.179455605T>C	VUS	1 lab	1bc948f89d
11:6461930 HPX G>A	11	6461930	6461930	G	A	HPX	c.114C>T	NM_000613.3	NP_000604.1:p.(Gly38=)	NC_000011.9:g.6461930G>A	(Likely) benign	1 lab	248dec5d1a
19:18893737 COMP C>T	19	18893737	18893737	C	T	COMP	c.2262G>A	NM_000095.3	NP_000086.2:p.(Leu754=)	NC_000019.9:g.18893737C>T	(Likely) benign	1 lab	248eb47566
15:34145853 RYR3 C>G	15	34145853	34145853	C	G	RYR3	c.13769C>G	NM_001036.6	NP_001027.3:p.(Thr4590Ser)	NC_000015.9:g.34145853C>G	(Likely) benign	1 lab	248f11c412
3:123401126 MYLK TG>T	3	123401126	123401130	TG	T	MYLK	c.3596del	NM_053025.4	NP_444253.3:p.(Pro1199GlnfsTer3)	NC_000003.11:g.123401130del	VUS	1 lab	1c0cbdbc60
7:141708343 MGAM GACAACTGGTACCCCAGATCCTGGA>G	7	141708343	141708379	GACAACTGGTACCCCAGATCCTGGA	G	MGAM	c.178_201del	NM_001365693.1	NP_001352622.1:p.(Pro60_Thr67del)	NC_000007.13:g.141708356_141708379del	VUS	1 lab	248fd0d6ee
7:107576056 LAMB1 G>C	7	107576056	107576056	G	C	LAMB1	c.3992C>G	NM_002291.3	NP_002282.2:p.(Ala1331Gly)	NC_000007.13:g.107576056G>C	VUS	1 lab	2490a2c347
22:41634087 CHADL A>ACGCGCGCC	22	41634087	41634100	A	ACGCGCGCC	CHADL	c.981_988dup	NM_138481.2	NP_612490.1:p.(Val330GlyfsTer106)	NC_000022.10:g.41634093_41634100dup	(Likely) benign	1 lab	249445bbaa
7:70233005 AUTS2 T>C	7	70233005	70233005	T	C	AUTS2	c.1690-5T>C	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70233005T>C	(Likely) benign	1 lab	1bcdf88974
10:14951263 DCLRE1C G>A	10	14951263	14951263	G	A	DCLRE1C	c.1223C>T	NM_001033855.3	NP_001029027.1:p.(Pro408Leu)	NC_000010.10:g.14951263G>A	VUS	1 lab	24995645c4
2:27730894 GCKR A>C	2	27730894	27730894	A	C	GCKR	c.1291A>C	NM_001486.4	NP_001477.2:p.(Asn431His)	NC_000002.11:g.27730894A>C	VUS	1 lab	249b83f188
8:109001295 RSPO2 T>C	8	109001295	109001295	T	C	RSPO2	c.272A>G	NM_178565.5	NP_848660.3:p.(Asn91Ser)	NC_000008.10:g.109001295T>C	VUS	1 lab	249c1a7d7b
15:44943977 SPG11 C>T	15	44943977	44943977	C	T	SPG11	c.1168G>A	NM_025137.4	NP_079413.3:p.(Asp390Asn)	NC_000015.9:g.44943977C>T	(Likely) benign	1 lab	249d21595b
19:39008070 RYR1 A>T	19	39008070	39008070	A	T	RYR1	c.9757A>T	NM_000540.3	NP_000531.2:p.(Ile3253Phe)	NC_000019.9:g.39008070A>T	VUS	1 lab	249f101c50
11:70666746 SHANK2 G>A	11	70666746	70666746	G	A	SHANK2	c.1216C>T	NM_012309.5	NP_036441.2:p.(Arg406Trp)	NC_000011.9:g.70666746G>A	VUS	1 lab	24a0957efc
8:145738362 RECQL4 G>A	8	145738362	145738362	G	A	RECQL4	c.2623C>T	NM_004260.4	NP_004251.4:p.(Pro875Ser)	NC_000008.10:g.145738362G>A	VUS	1 lab	24a3409b73
16:72831196 ZFHX3 G>GTGC	16	72831196	72831210	G	GTGC	ZFHX3	c.5382_5384dup	NM_006885.4	NP_008816.3:p.(Gln1794dup)	NC_000016.9:g.72831208_72831210dup	VUS	1 lab	24a43322e8
17:7752409 KDM6B C>T	17	7752409	7752409	C	T	KDM6B	c.2803C>T	NM_001348716.2	NP_001335645.1:p.(Pro935Ser)	NC_000017.10:g.7752409C>T	(Likely) benign	1 lab	24a43fc547
19:5720074 LONP1 G>T	19	5720074	5720074	G	T	LONP1	c.70C>A	NM_004793.4	NP_004784.2:p.(Leu24Met)	NC_000019.9:g.5720074G>T	(Likely) benign	1 lab	24a4684c3c
16:2140085 PKD1 C>G	16	2140085	2140085	C	G	PKD1	c.12555G>C	NM_001009944.3	NP_001009944.3:p.(Ser4185=)	NC_000016.9:g.2140085C>G	(Likely) benign	1 lab	24a4c0443c
3:122044153 CSTA G>C	3	122044153	122044153	G	C	CSTA	c.14G>C	NM_005213.4	NP_005204.1:p.(Gly5Ala)	NC_000003.11:g.122044153G>C	VUS	1 lab	24a54a783c
21:47423918 COL6A1 G>A	21	47423918	47423918	G	A	COL6A1	c.3078G>A	NM_001848.3	NP_001839.2:p.(Ala1026=)	NC_000021.8:g.47423918G>A	(Likely) benign	1 lab	24a5a9b440
17:27235807 PHF12 C>T	17	27235807	27235807	C	T	PHF12	c.2452G>A	NM_001033561.2	NP_001028733.1:p.(Gly818Arg)	NC_000017.10:g.27235807C>T	VUS	1 lab	24a7964fda
11:1265444 MUC5B C>T	11	1265444	1265444	C	T	MUC5B	c.7334C>T	NM_002458.3	NP_002449.2:p.(Thr2445Met)	NC_000011.9:g.1265444C>T	(Likely) benign	1 lab	24a9af5343
14:73637532 PSEN1 AACG>A	14	73637532	73637537	AACG	A	PSEN1	c.118_120del	NM_000021.4	NP_000012.1:p.(Asp40del)	NC_000014.8:g.73637535_73637537del	(Likely) benign	1 lab	24a9c0633d
18:29175205 TTR A>G	18	29175205	29175205	A	G	TTR	c.323A>G	NM_000371.4	NP_000362.1:p.(His108Arg)	NC_000018.9:g.29175205A>G	(Likely) pathogenic	1 lab	1bce67ebeb
22:42610572 TCF20 A>AAGG	22	42610572	42610594	A	AAGG	TCF20	c.737_739dup	NM_001378418.1	NP_001365347.1:p.(Ser246dup)	NC_000022.10:g.42610592_42610594dup	(Likely) benign	1 lab	24ad6265f1
9:139089562 LHX3 G>A	9	139089562	139089562	G	A	LHX3	c.803C>T	NM_178138.6	NP_835258.1:p.(Pro268Leu)	NC_000009.11:g.139089562G>A	(Likely) benign	1 lab	24ad82a77e
2:238296780 COL6A3 T>C	2	238296780	238296780	T	C	COL6A3	c.757A>G	NM_004369.4	NP_004360.2:p.(Thr253Ala)	NC_000002.11:g.238296780T>C	(Likely) benign	1 lab	24add72a65
12:46123866 ARID2 G>C	12	46123866	46123866	G	C	ARID2	c.132G>C	NM_152641.4	NP_689854.2:p.(Glu44Asp)	NC_000012.11:g.46123866G>C	(Likely) benign	1 lab	24aedf7257
14:21854260 CHD8 G>A	14	21854260	21854260	G	A	CHD8	c.7258C>T	NM_001170629.2	NP_001164100.1:p.(Arg2420Cys)	NC_000014.8:g.21854260G>A	VUS	1 lab	24aee65d67
11:103024073 DYNC2H1 C>G	11	103024073	103024073	C	G	DYNC2H1	c.3138C>G	NM_001377.3	NP_001368.2:p.(Ile1046Met)	NC_000011.9:g.103024073C>G	(Likely) benign	1 lab	24b12df494
X:129377769 ZNF280C T>A	X	129377769	129377769	T	A	ZNF280C	c.244+5A>T	NM_017666.5	NP_060136.1:p.?	NC_000023.10:g.129377769T>A	(Likely) benign	1 lab	24b1e5a10e
7:47876640 PKD1L1 G>A	7	47876640	47876640	G	A	PKD1L1	c.5822C>T	NM_138295.5	NP_612152.1:p.(Ser1941Leu)	NC_000007.13:g.47876640G>A	VUS	1 lab	24b23f5106
14:99969227 CCNK A>G	14	99969227	99969227	A	G	CCNK	c.917A>G	NM_001099402.2	NP_001092872.1:p.(Asp306Gly)	NC_000014.8:g.99969227A>G	(Likely) benign	1 lab	24b2513f3c
1:33486974 AK2 G>A	1	33486974	33486974	G	A	AK2	c.419C>T	NM_001625.4	NP_001616.1:p.(Thr140Ile)	NC_000001.10:g.33486974G>A	VUS	1 lab	257b0c7148
5:176638587 NSD1 A>G	5	176638587	176638587	A	G	NSD1	c.3187A>G	NM_022455.5	NP_071900.2:p.(Thr1063Ala)	NC_000005.9:g.176638587A>G	(Likely) benign	1 lab	24b381782a
X:67412840 OPHN1 T>C	X	67412840	67412840	T	C	OPHN1	c.1202-5A>G	NM_002547.3	NP_002538.1:p.?	NC_000023.10:g.67412840T>C	(Likely) benign	1 lab	24b5f7f1cb
16:27751724 KATNIP G>A	16	27751724	27751724	G	A	KATNIP	c.2106G>A	NM_015202.3	NP_056017.3:p.(Ser702=)	NC_000016.9:g.27751724G>A	(Likely) benign	1 lab	1c0efd7c2a
15:86940709 AGBL1 G>T	15	86940709	86940709	G	T	AGBL1	c.2487G>T	NM_001386094.1	NP_001373023.1:p.(Arg829Ser)	NC_000015.9:g.86940709G>T	(Likely) benign	1 lab	24b69cdb0a
10:103716445 ARMH3 G>A	10	103716445	103716445	G	A	ARMH3	c.1614C>T	NM_024541.3	NP_078817.2:p.(Gly538=)	NC_000010.10:g.103716445G>A	(Likely) benign	1 lab	24b74966fd
3:37092066 MLH1 TAA>T	3	37092066	37092069	TAA	T	MLH1	c.2195_2196del	NM_000249.4	NP_000240.1:p.(Lys732ThrfsTer13)	NC_000003.11:g.37092068_37092069del	(Likely) pathogenic	1 lab	24b9bcc43c
17:36104697 HNF1B G>A	17	36104697	36104697	G	A	HNF1B	c.179C>T	NM_000458.4	NP_000449.1:p.(Pro60Leu)	NC_000017.10:g.36104697G>A	VUS	1 lab	24baf88fd8
11:44129645 EXT2 G>A	11	44129645	44129645	G	A	EXT2	c.383G>A	NM_207122.2	NP_997005.1:p.(Arg128Gln)	NC_000011.9:g.44129645G>A	VUS	1 lab	24bc527a2c
7:31014649 GHRHR G>A	7	31014649	31014649	G	A	GHRHR	c.876G>A	NM_000823.4	NP_000814.2:p.(Ser292=)	NC_000007.13:g.31014649G>A	VUS	1 lab	24bf9cff54
18:24128362 KCTD1 G>A	18	24128362	24128362	G	A	KCTD1	c.139C>T	NM_001142730.3	NP_001136202.1:p.(Arg47Cys)	NC_000018.9:g.24128362G>A	VUS	1 lab	24c065319b
1:10708140 CASZ1 G>A	1	10708140	10708140	G	A	CASZ1	c.3215C>T	NM_001079843.3	NP_001073312.1:p.(Pro1072Leu)	NC_000001.10:g.10708140G>A	VUS	1 lab	1bd2b76ebc
1:192780712 RGS2 C>T	1	192780712	192780712	C	T	RGS2	c.622C>T	NM_002923.4	NP_002914.1:p.(Pro208Ser)	NC_000001.10:g.192780712C>T	(Likely) benign	1 lab	24c10fdc3c
9:109690952 ZNF462 G>T	9	109690952	109690952	G	T	ZNF462	c.4759G>T	NM_021224.6	NP_067047.4:p.(Gly1587Cys)	NC_000009.11:g.109690952G>T	VUS	1 lab	24c2220513
4:151773294 LRBA T>C	4	151773294	151773294	T	C	LRBA	c.3568A>G	NM_006726.4	NP_006717.2:p.(Met1190Val)	NC_000004.11:g.151773294T>C	(Likely) benign	1 lab	1c0fb0a21d
19:8651584 ADAMTS10 G>GCA	19	8651584	8651585	G	GCA	ADAMTS10	c.2260_2261insTG	NM_030957.4	NP_112219.3:p.(Ser754LeufsTer19)	NC_000019.9:g.8651584_8651585insCA	(Likely) pathogenic	1 lab	24c2d3ae94
18:28934819 DSG1 G>A	18	28934819	28934819	G	A	DSG1	c.2660G>A	NM_001942.4	NP_001933.2:p.(Arg887Gln)	NC_000018.9:g.28934819G>A	(Likely) benign	1 lab	24c31e05d7
8:133492584 KCNQ3 T>A	8	133492584	133492584	T	A	KCNQ3	c.196A>T	NM_004519.4	NP_004510.1:p.(Thr66Ser)	NC_000008.10:g.133492584T>A	VUS	1 lab	24c383bbba
15:65703478 IGDCC4 G>A	15	65703478	65703478	G	A	IGDCC4	c.301C>T	NM_020962.3	NP_066013.1:p.(Pro101Ser)	NC_000015.9:g.65703478G>A	(Likely) benign	1 lab	24c400562a
8:43027449 HGSNAT C>T	8	43027449	43027449	C	T	HGSNAT	c.744-4C>T	NM_152419.3	NP_689632.2:p.?	NC_000008.10:g.43027449C>T	(Likely) benign	1 lab	24c476e47a
22:33673227 LARGE1 G>A	22	33673227	33673227	G	A	LARGE1	c.1892C>T	NM_133642.5	NP_598397.1:p.(Thr631Met)	NC_000022.10:g.33673227G>A	VUS	1 lab	24c484af08
19:44130984 CADM4 G>C	19	44130984	44130984	G	C	CADM4	c.451C>G	NM_145296.2	NP_660339.1:p.(Arg151Gly)	NC_000019.9:g.44130984G>C	VUS	1 lab	24c65b1a69
8:20031894 SLC18A1 T>C	8	20031894	20031894	T	C	SLC18A1	c.609A>G	NM_003053.4	NP_003044.1:p.(Gly203=)	NC_000008.10:g.20031894T>C	VUS	1 lab	24c725ac17
3:126737237 PLXNA1 G>T	3	126737237	126737237	G	T	PLXNA1	c.3761G>T	NM_032242.4	NP_115618.3:p.(Gly1254Val)	NC_000003.11:g.126737237G>T	VUS	1 lab	24c85ad4cf
5:180057303 FLT4 C>T	5	180057303	180057303	C	T	FLT4	c.435G>A	NM_182925.5	NP_891555.2:p.(Thr145=)	NC_000005.9:g.180057303C>T	(Likely) benign	1 lab	24c913a32d
11:113085224 NCAM1 C>T	11	113085224	113085224	C	T	NCAM1	c.1050C>T	NM_181351.5	NP_851996.2:p.(Ser350=)	NC_000011.9:g.113085224C>T	(Likely) benign	1 lab	24cc120e75
6:30883798 VARS2 T>G	6	30883798	30883798	T	G	VARS2	c.547T>G	NM_020442.6	NP_065175.4:p.(Ser183Ala)	NC_000006.11:g.30883798T>G	VUS	1 lab	24cdca3c37
6:157528929 ARID1B C>T	6	157528929	157528929	C	T	ARID1B	c.7023C>T	NM_001374828.1	NP_001361757.1:p.(His2341=)	NC_000006.11:g.157528929C>T	(Likely) benign	1 lab	24cfeda85f
12:49422679 KMT2D T>C	12	49422679	49422679	T	C	KMT2D	c.14314A>G	NM_003482.4	NP_003473.3:p.(Thr4772Ala)	NC_000012.11:g.49422679T>C	(Likely) benign	1 lab	24d119683e
16:88798255 PIEZO1 C>T	16	88798255	88798255	C	T	PIEZO1	c.3055G>A	NM_001142864.4	NP_001136336.2:p.(Gly1019Ser)	NC_000016.9:g.88798255C>T	VUS	1 lab	24d358e83f
6:87964677 ZNF292 C>T	6	87964677	87964677	C	T	ZNF292	c.1330C>T	NM_015021.3	NP_055836.1:p.(Pro444Ser)	NC_000006.11:g.87964677C>T	VUS	1 lab	24d730c7df
17:54671706 NOG T>G	17	54671706	54671706	T	G	NOG	c.122T>G	NM_005450.6	NP_005441.1:p.(Leu41Arg)	NC_000017.10:g.54671706T>G	(Likely) pathogenic	1 lab	24d9da086f
2:179526536 TTN T>C	2	179526536	179526536	T	C	TTN	c.37235A>G	NM_001267550.2	NP_001254479.2:p.(Lys12412Arg)	NC_000002.11:g.179526536T>C	VUS	1 lab	24dc3ad85c
10:105815684 COL17A1 T>G	10	105815684	105815684	T	G	COL17A1	c.1543A>C	NM_000494.4	NP_000485.3:p.(Ser515Arg)	NC_000010.10:g.105815684T>G	(Likely) benign	1 lab	24dd9a85b7
12:107080779 RFX4 AGTG>A	12	107080779	107080783	AGTG	A	RFX4	c.497_499del	NM_213594.3	NP_998759.1:p.(Val166del)	NC_000012.11:g.107080781_107080783del	VUS	1 lab	24de12a6b4
5:140048189 WDR55 GTCTC>G	5	140048189	140048194	GTCTC	G	WDR55	c.381-6_381-3del	NM_017706.5	NP_060176.3:p.?	NC_000005.9:g.140048191_140048194del	VUS	1 lab	24de25fd0b
19:36214884 KMT2B C>T	19	36214884	36214884	C	T	KMT2B	c.3310C>T	NM_014727.3	NP_055542.1:p.(Arg1104Trp)	NC_000019.9:g.36214884C>T	VUS	1 lab	24de74275c
12:123424824 ABCB9 G>C	12	123424824	123424824	G	C	ABCB9	c.1577C>G	NM_019625.4	NP_062571.1:p.(Ser526Cys)	NC_000012.11:g.123424824G>C	VUS	1 lab	24df8b73fc
19:38968383 RYR1 G>A	19	38968383	38968383	G	A	RYR1	c.4327G>A	NM_000540.3	NP_000531.2:p.(Glu1443Lys)	NC_000019.9:g.38968383G>A	VUS	1 lab	24e0074aa8
2:63631314 WDPCP G>T	2	63631314	63631314	G	T	WDPCP	c.1304C>A	NM_015910.7	NP_056994.3:p.(Ser435Tyr)	NC_000002.11:g.63631314G>T	VUS	1 lab	24e01b68f8
18:65179600 DSEL C>G	18	65179600	65179600	C	G	DSEL	c.2246G>C	NM_032160.3	NP_115536.2:p.(Gly749Ala)	NC_000018.9:g.65179600C>G	VUS	1 lab	25b051baca
2:179599602 TTN T>C	2	179599602	179599602	T	C	TTN	c.15049A>G	NM_001267550.2	NP_001254479.2:p.(Lys5017Glu)	NC_000002.11:g.179599602T>C	VUS	1 lab	24e2720eb7
7:140508688 BRAF A>G	7	140508688	140508688	A	G	BRAF	c.608+4T>C	NM_004333.6	NP_004324.2:p.?	NC_000007.13:g.140508688A>G	VUS	1 lab	24e32b8044
13:111158852 COL4A2 C>T	13	111158852	111158852	C	T	COL4A2	c.4493C>T	NM_001846.4	NP_001837.2:p.(Thr1498Met)	NC_000013.10:g.111158852C>T	(Likely) benign	1 lab	24e4254e3c
7:95165810 ASB4 A>G	7	95165810	95165810	A	G	ASB4	c.1040A>G	NM_016116.3	NP_057200.1:p.(His347Arg)	NC_000007.13:g.95165810A>G	(Likely) benign	1 lab	24e43db7f5
8:100128039 VPS13B T>G	8	100128039	100128039	T	G	VPS13B	c.874T>G	NM_152564.5	NP_689777.3:p.(Phe292Val)	NC_000008.10:g.100128039T>G	(Likely) benign	1 lab	24e49a6b82
2:152531911 NEB A>G	2	152531911	152531911	A	G	NEB	c.3775-6T>C	NM_001164508.2	NP_001157980.2:p.?	NC_000002.11:g.152531911A>G	(Likely) benign	1 lab	24e6da937a
15:75656531 MAN2C1 T>C	15	75656531	75656531	T	C	MAN2C1	c.601-2A>G	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75656531T>C	(Likely) pathogenic	1 lab	24e7eb6dc2
16:1412633 GNPTG A>T	16	1412633	1412633	A	T	GNPTG	c.631A>T	NM_032520.5	NP_115909.1:p.(Thr211Ser)	NC_000016.9:g.1412633A>T	(Likely) benign	1 lab	24e85be41a
9:135946968 CEL GCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC>G	9	135946968	135947081	GCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCTGTGCCC	G	CEL	c.2094_2192del	NM_001807.6	NP_001798.3:p.(Gly699_Ser731del)	NC_000009.11:g.135946983_135947081del	(Likely) benign	1 lab	24ec842953
20:54965728 AURKA C>CA	20	54965728	54965739	C	CA	AURKA	c.-6+1495dup	NM_198437.3	NP_940839.1:p.?	NC_000020.10:g.54965739dup	(Likely) benign	1 lab	24edd7faf6
17:10600809 SCO1 G>C	17	10600809	10600809	G	C	SCO1	c.16C>G	NM_004589.4	NP_004580.1:p.(Leu6Val)	NC_000017.10:g.10600809G>C	(Likely) benign	1 lab	24f0790535
1:1957157 GABRD C>G	1	1957157	1957157	C	G	GABRD	c.450C>G	NM_000815.5	NP_000806.2:p.(Gly150=)	NC_000001.10:g.1957157C>G	(Likely) benign	1 lab	1c18321ee5
15:42693953 CAPN3 G>A	15	42693953	42693953	G	A	CAPN3	c.1469G>A	NM_000070.3	NP_000061.1:p.(Arg490Gln)	NC_000015.9:g.42693953G>A	(Likely) pathogenic	1 lab	24f274920a
2:98914438 VWA3B G>C	2	98914438	98914438	G	C	VWA3B	c.3226G>C	NM_144992.5	NP_659429.4:p.(Val1076Leu)	NC_000002.11:g.98914438G>C	VUS	1 lab	24f81c6274
3:121187153 POLQ T>C	3	121187153	121187153	T	C	POLQ	c.6844A>G	NM_199420.4	NP_955452.3:p.(Arg2282Gly)	NC_000003.11:g.121187153T>C	(Likely) benign	1 lab	24fa4e0e6d
3:9985137 CRELD1 G>A	3	9985137	9985137	G	A	CRELD1	c.986G>A	NM_001077415.3	NP_001070883.2:p.(Arg329His)	NC_000003.11:g.9985137G>A	(Likely) benign	1 lab	24fc70bbbf
1:197059119 ASPM T>C	1	197059119	197059119	T	C	ASPM	c.9925A>G	NM_018136.5	NP_060606.3:p.(Ser3309Gly)	NC_000001.10:g.197059119T>C	VUS	1 lab	24fffd06da
17:73894963 MRPL38 C>G	17	73894963	73894963	C	G	MRPL38	c.1111G>C	NM_032478.4	NP_115867.2:p.(Asp371His)	NC_000017.10:g.73894963C>G	(Likely) benign	1 lab	2501a9c2b3
X:9863345 SHROOM2 G>C	X	9863345	9863345	G	C	SHROOM2	c.1397G>C	NM_001649.4	NP_001640.1:p.(Cys466Ser)	NC_000023.10:g.9863345G>C	VUS	1 lab	250a90e05f
1:150484264 ECM1 G>A	1	150484264	150484264	G	A	ECM1	c.1040G>A	NM_004425.4	NP_004416.2:p.(Arg347His)	NC_000001.10:g.150484264G>A	(Likely) benign	1 lab	250abf46f7
2:220371147 GMPPA A>G	2	220371147	220371147	A	G	GMPPA	c.1162+3A>G	NM_013335.4	NP_037467.2:p.?	NC_000002.11:g.220371147A>G	(Likely) benign	1 lab	25106eb2e3
11:17485005 ABCC8 C>T	11	17485005	17485005	C	T	ABCC8	c.559G>A	NM_000352.6	NP_000343.2:p.(Val187Ile)	NC_000011.9:g.17485005C>T	(Likely) benign	1 lab	2510a013a1
8:143961058 CYP11B1 C>T	8	143961058	143961058	C	T	CYP11B1	c.172G>A	NM_000497.4	NP_000488.3:p.(Glu58Lys)	NC_000008.10:g.143961058C>T	VUS	1 lab	251246ca1c
2:167163373 SCN9A C>CA	2	167163373	167163375	C	CA	SCN9A	c.377+92dup	NM_002977.3	NP_002968.1:p.?	NC_000002.11:g.167163375dup	(Likely) benign	1 lab	1c1992b532
1:155263225 PKLR C>T	1	155263225	155263225	C	T	PKLR	c.1269+4G>A	NM_000298.6	NP_000289.1:p.?	NC_000001.10:g.155263225C>T	(Likely) benign	1 lab	2512a9fa7c
19:51171991 SHANK1 A>G	19	51171991	51171991	A	G	SHANK1	c.3226T>C	NM_016148.5	NP_057232.2:p.(Ser1076Pro)	NC_000019.9:g.51171991A>G	VUS	1 lab	2513affc43
19:5719832 LONP1 C>T	19	5719832	5719832	C	T	LONP1	c.312G>A	NM_004793.4	NP_004784.2:p.(Gly104=)	NC_000019.9:g.5719832C>T	(Likely) benign	1 lab	2516c7cf75
16:58577546 CNOT1 T>C	16	58577546	58577546	T	C	CNOT1	c.4399A>G	NM_016284.5	NP_057368.3:p.(Thr1467Ala)	NC_000016.9:g.58577546T>C	VUS	1 lab	2517434fbd
5:154278005 GEMIN5 G>C	5	154278005	154278005	G	C	GEMIN5	c.3340C>G	NM_015465.5	NP_056280.2:p.(Leu1114Val)	NC_000005.9:g.154278005G>C	VUS	1 lab	2518c8902b
15:41108163 PPP1R14D T>C	15	41108163	41108163	T	C	PPP1R14D	c.369A>G	NM_017726.8	NP_060196.1:p.(Thr123=)	NC_000015.9:g.41108163T>C	(Likely) benign	1 lab	251978d361
9:139401390 NOTCH1 G>A	9	139401390	139401390	G	A	NOTCH1	c.3679C>T	NM_017617.5	NP_060087.3:p.(Pro1227Ser)	NC_000009.11:g.139401390G>A	VUS	1 lab	251a277e55
6:152501373 SYNE1 A>T	6	152501373	152501373	A	T	SYNE1	c.23358T>A	NM_182961.4	NP_892006.3:p.(Ser7786Arg)	NC_000006.11:g.152501373A>T	VUS	1 lab	251a6e71f8
12:124957674 NCOR2 G>A	12	124957674	124957674	G	A	NCOR2	c.415C>T	NM_006312.6	NP_006303.4:p.(Arg139Cys)	NC_000012.11:g.124957674G>A	VUS	1 lab	251c7e81e1
3:195780302 TFRC T>C	3	195780302	195780302	T	C	TFRC	c.2027A>G	NM_001128148.3	NP_001121620.1:p.(Asp676Gly)	NC_000003.11:g.195780302T>C	VUS	1 lab	251dad6147
19:42799312 CIC CAGGT>C	19	42799312	42799316	CAGGT	C	CIC	c.7524_7527del	NM_001386298.1	NP_001373227.1:p.(Gly2509ProfsTer19)	NC_000019.9:g.42799313_42799316del	VUS	1 lab	2520760916
9:131186811 CERCAM G>T	9	131186811	131186811	G	T	CERCAM	c.684G>T	NM_016174.5	NP_057258.3:p.(Gln228His)	NC_000009.11:g.131186811G>T	(Likely) benign	1 lab	25215b6329
16:89451714 ANKRD11 T>G	16	89451714	89451714	T	G	ANKRD11	c.-60+32978A>C	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89451714T>G	(Likely) benign	1 lab	2522a638ac
11:118361972 KMT2A G>A	11	118361972	118361972	G	A	KMT2A	c.4758G>A	NM_001197104.2	NP_001184033.1:p.(Met1586Ile)	NC_000011.9:g.118361972G>A	(Likely) benign	1 lab	2522af7b13
9:80262639 GNA14 T>C	9	80262639	80262639	T	C	GNA14	c.71A>G	NM_004297.4	NP_004288.1:p.(Gln24Arg)	NC_000009.11:g.80262639T>C	(Likely) benign	1 lab	252466a55d
15:89806692 FANCI G>T	15	89806692	89806692	G	T	FANCI	c.545+1G>T	NM_001113378.2	NP_001106849.1:p.?	NC_000015.9:g.89806692G>T	(Likely) pathogenic	1 lab	2524d53f32
17:80039893 FASN C>G	17	80039893	80039893	C	G	FASN	c.6155G>C	NM_004104.5	NP_004095.4:p.(Gly2052Ala)	NC_000017.10:g.80039893C>G	VUS	1 lab	2525888fac
10:49994805 WDFY4 G>A	10	49994805	49994805	G	A	WDFY4	c.3698G>A	NM_001394531.1	NP_001381460.1:p.(Arg1233His)	NC_000010.10:g.49994805G>A	VUS	1 lab	2525beba39
19:9764447 ZNF562 A>C	19	9764447	9764447	A	C	ZNF562	c.459T>G	NM_001130031.2	NP_001123503.1:p.(Phe153Leu)	NC_000019.9:g.9764447A>C	(Likely) benign	1 lab	2525c3d745
22:42608427 TCF20 C>T	22	42608427	42608427	C	T	TCF20	c.2885G>A	NM_001378418.1	NP_001365347.1:p.(Arg962His)	NC_000022.10:g.42608427C>T	(Likely) benign	1 lab	252878916c
2:179432638 TTN C>G	2	179432638	179432638	C	G	TTN	c.78221G>C	NM_001267550.2	NP_001254479.2:p.(Gly26074Ala)	NC_000002.11:g.179432638C>G	VUS	1 lab	25296601d7
15:75660818 MAN2C1 C>T	15	75660818	75660818	C	T	MAN2C1	c.101+6G>A	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75660818C>T	(Likely) benign	1 lab	252b441d9b
1:45974604 MMACHC G>A	1	45974604	45974604	G	A	MMACHC	c.566G>A	NM_015506.3	NP_056321.2:p.(Arg189His)	NC_000001.10:g.45974604G>A	(Likely) pathogenic	1 lab	252c8a522b
14:105240287 AKT1 G>A	14	105240287	105240287	G	A	AKT1	c.664C>T	NM_001382430.1	NP_001369359.1:p.(Arg222Cys)	NC_000014.8:g.105240287G>A	VUS	1 lab	252f4fc255
10:51857430 WASHC2A T>A	10	51857430	51857430	T	A	WASHC2A	c.1421-5T>A	NM_001005751.3	NP_001005751.1:p.?	NC_000010.10:g.51857430T>A	(Likely) benign	1 lab	2530310396
7:34006121 BMPER G>T	7	34006121	34006121	G	T	BMPER	c.350G>T	NM_001365308.1	NP_001352237.1:p.(Ser117Ile)	NC_000007.13:g.34006121G>T	VUS	1 lab	2530369946
19:17992837 SLC5A5 G>A	19	17992837	17992837	G	A	SLC5A5	c.1127G>A	NM_000453.3	NP_000444.1:p.(Arg376Gln)	NC_000019.9:g.17992837G>A	(Likely) benign	1 lab	25310f175d
20:44528471 PLTP T>C	20	44528471	44528471	T	C	PLTP	c.1218+4A>G	NM_006227.4	NP_006218.1:p.?	NC_000020.10:g.44528471T>C	(Likely) benign	1 lab	2531473570
15:45897648 BLOC1S6 A>G	15	45897648	45897648	A	G	BLOC1S6	c.335A>G	NM_012388.4	NP_036520.1:p.(His112Arg)	NC_000015.9:g.45897648A>G	VUS	1 lab	2532d53f5d
2:29022153 PPP1CB C>T	2	29022153	29022153	C	T	PPP1CB	c.968C>T	NM_002709.3	NP_002700.1:p.(Pro323Leu)	NC_000002.11:g.29022153C>T	(Likely) benign	1 lab	2534026866
19:7762152 FCER2 G>A	19	7762152	7762152	G	A	FCER2	c.286C>T	NM_001220500.2	NP_001207429.1:p.(Arg96Ter)	NC_000019.9:g.7762152G>A	(Likely) benign	1 lab	253688de2b
7:44805822 ZMIZ2 A>C	7	44805822	44805822	A	C	ZMIZ2	c.2302A>C	NM_031449.4	NP_113637.3:p.(Thr768Pro)	NC_000007.13:g.44805822A>C	(Likely) benign	1 lab	2537c1a2f7
11:62483025 HNRNPUL2 G>A	11	62483025	62483025	G	A	HNRNPUL2	c.2110C>T	NM_001079559.3	NP_001073027.1:p.(Arg704Ter)	NC_000011.9:g.62483025G>A	VUS	1 lab	253ba98d46
1:158517297 OR6Y1 G>A	1	158517297	158517297	G	A	OR6Y1	c.599C>T	NM_001005189.2	NP_001005189.1:p.(Ala200Val)	NC_000001.10:g.158517297G>A	VUS	1 lab	253c2707ee
9:135266093 TTF1 G>A	9	135266093	135266093	G	A	TTF1	c.2113C>T	NM_007344.4	NP_031370.2:p.(Pro705Ser)	NC_000009.11:g.135266093G>A	(Likely) benign	1 lab	253c5de481
X:8768258 FAM9A A>G	X	8768258	8768258	A	G	FAM9A	c.-38-8T>C	NM_174951.3	NP_777611.1:p.?	NC_000023.10:g.8768258A>G	(Likely) benign	1 lab	253cf605cf
19:12758408 MAN2B1 G>C	19	12758408	12758408	G	C	MAN2B1	c.2669C>G	NM_000528.4	NP_000519.2:p.(Ser890Ter)	NC_000019.9:g.12758408G>C	VUS	1 lab	253d20947f
22:20791940 SCARF2 G>GAGC	22	20791940	20791961	G	GAGC	SCARF2	c.99_101dup	NM_182895.5	NP_878315.2:p.(Leu34dup)	NC_000022.10:g.20791959_20791961dup	VUS	1 lab	253e065a0e
6:76713625 IMPG1 G>T	6	76713625	76713625	G	T	IMPG1	c.1178C>A	NM_001563.4	NP_001554.2:p.(Ser393Ter)	NC_000006.11:g.76713625G>T	(Likely) pathogenic	1 lab	253e9b4dfe
7:129939221 CPA4 G>A	7	129939221	129939221	G	A	CPA4	c.262G>A	NM_016352.4	NP_057436.2:p.(Ala88Thr)	NC_000007.13:g.129939221G>A	VUS	1 lab	253f8aafc4
18:44104726 LOXHD1 C>T	18	44104726	44104726	C	T	LOXHD1	c.4685G>A	NM_001384474.1	NP_001371403.1:p.(Arg1562His)	NC_000018.9:g.44104726C>T	VUS	1 lab	253f98aea6
7:151875100 KMT2C TAAAAAAAAAAAAA>T	7	151875100	151875127	TAAAAAAAAAAAAA	T	KMT2C	c.7443-18_7443-6del	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.151875115_151875127del	(Likely) benign	1 lab	25411d9404
5:38493869 LIFR T>TA	5	38493869	38493870	T	TA	LIFR	c.1903_1904insT	NM_001127671.2	NP_001121143.1:p.(Gln635LeufsTer26)	NC_000005.9:g.38493869_38493870insA	VUS	1 lab	2542ed7b6f
18:31314340 ASXL3 C>T	18	31314340	31314340	C	T	ASXL3	c.1043C>T	NM_030632.3	NP_085135.1:p.(Pro348Leu)	NC_000018.9:g.31314340C>T	VUS	1 lab	2547fdf8ce
8:28573873 EXTL3 G>A	8	28573873	28573873	G	A	EXTL3	c.297G>A	NM_001440.4	NP_001431.1:p.(Lys99=)	NC_000008.10:g.28573873G>A	(Likely) benign	1 lab	1c1b1a9d63
1:55319902 DHCR24 A>G	1	55319902	55319902	A	G	DHCR24	c.1026T>C	NM_014762.4	NP_055577.1:p.(Ile342=)	NC_000001.10:g.55319902A>G	(Likely) benign	1 lab	1bd60c870a
9:132379354 C9orf50 GA>G	9	132379354	132379364	GA	G	C9orf50	c.717-1429del	NM_199350.4	NP_955382.3:p.?	NC_000009.11:g.132379364del	VUS	1 lab	254bbf692e
3:12475550 PPARG C>A	3	12475550	12475550	C	A	PPARG	c.1334C>A	NM_138711.6	NP_619725.3:p.(Thr445Lys)	NC_000003.11:g.12475550C>A	VUS	1 lab	254eda0569
2:38301960 CYP1B1 A>C	2	38301960	38301960	A	C	CYP1B1	c.572T>G	NM_000104.4	NP_000095.2:p.(Leu191Arg)	NC_000002.11:g.38301960A>C	VUS	1 lab	2550b270e6
17:7798285 CHD3 AGAG>A	17	7798285	7798292	AGAG	A	CHD3	c.1325_1327del	NM_001005273.3	NP_001005273.1:p.(Glu442del)	NC_000017.10:g.7798290_7798292del	VUS	1 lab	2550f7c46d
7:151945687 KMT2C A>G	7	151945687	151945687	A	G	KMT2C	c.1832T>C	NM_170606.3	NP_733751.2:p.(Val611Ala)	NC_000007.13:g.151945687A>G	(Likely) benign	1 lab	2550fd66e6
11:16133417 SOX6 C>T	11	16133417	16133417	C	T	SOX6	c.830G>A	NM_001367873.1	NP_001354802.1:p.(Arg277Gln)	NC_000011.9:g.16133417C>T	(Likely) benign	1 lab	2551af9482
5:149510166 PDGFRB G>A	5	149510166	149510166	G	A	PDGFRB	c.1303C>T	NM_002609.4	NP_002600.1:p.(Arg435Cys)	NC_000005.9:g.149510166G>A	(Likely) benign	1 lab	2551e73663
5:109051915 MAN2A1 A>G	5	109051915	109051915	A	G	MAN2A1	c.485A>G	NM_002372.4	NP_002363.2:p.(Asp162Gly)	NC_000005.9:g.109051915A>G	VUS	1 lab	2551f9aef1
21:46896399 COL18A1 G>C	21	46896399	46896399	G	C	COL18A1	c.928+5G>C	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46896399G>C	(Likely) benign	1 lab	2552acc241
X:54011491 PHF8 T>C	X	54011491	54011491	T	C	PHF8	c.2299A>G	NM_015107.3	NP_055922.1:p.(Asn767Asp)	NC_000023.10:g.54011491T>C	(Likely) benign	1 lab	2555b61198
18:19751306 GATA6 G>C	18	19751306	19751306	G	C	GATA6	c.201G>C	NM_005257.6	NP_005248.2:p.(Thr67=)	NC_000018.9:g.19751306G>C	(Likely) benign	1 lab	2558c4c657
8:28928175 KIF13B C>G	8	28928175	28928175	C	G	KIF13B	c.5327G>C	NM_015254.4	NP_056069.2:p.(Arg1776Pro)	NC_000008.10:g.28928175C>G	(Likely) benign	1 lab	255b98ef3c
X:153678775 FAM50A C>T	X	153678775	153678775	C	T	FAM50A	c.1015C>T	NM_004699.4	NP_004690.1:p.(Arg339Cys)	NC_000023.10:g.153678775C>T	VUS	1 lab	255cb84191
X:2999009 ARSF CT>C	X	2999009	2999011	CT	C	ARSF	c.363del	NM_001201539.2	NP_001188468.1:p.(Ala122GlnfsTer4)	NC_000023.10:g.2999011del	(Likely) benign	1 lab	255dc018c7
7:156480825 LMBR1 T>C	7	156480825	156480825	T	C	LMBR1	c.1286A>G	NM_022458.4	NP_071903.2:p.(Tyr429Cys)	NC_000007.13:g.156480825T>C	VUS	1 lab	255ebd35a1
3:9460838 SETD5 T>C	3	9460838	9460838	T	C	SETD5	c.-176-5313T>C	NM_001080517.3	NP_001073986.1:p.?	NC_000003.11:g.9460838T>C	(Likely) benign	1 lab	255f1c3074
22:41922383 POLR3H G>A	22	41922383	41922383	G	A	POLR3H	c.*2904C>T	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41922383G>A	(Likely) benign	1 lab	256053f93e
17:27818801 TAOK1 G>A	17	27818801	27818801	G	A	TAOK1	c.750-1G>A	NM_020791.4	NP_065842.1:p.?	NC_000017.10:g.27818801G>A	VUS	1 lab	2561454c3b
2:179529628 TTN A>T	2	179529628	179529628	A	T	TTN	c.36069T>A	NM_001267550.2	NP_001254479.2:p.(Ile12023=)	NC_000002.11:g.179529628A>T	(Likely) benign	1 lab	256298560a
3:132389899 UBA5 T>C	3	132389899	132389899	T	C	UBA5	c.579+6T>C	NM_024818.6	NP_079094.1:p.?	NC_000003.11:g.132389899T>C	VUS	1 lab	256312d229
2:219127905 GPBAR1 C>T	2	219127905	219127905	C	T	GPBAR1	c.458C>T	NM_170699.3	NP_733800.1:p.(Ala153Val)	NC_000002.11:g.219127905C>T	VUS	1 lab	25647f05b4
4:80992753 ANTXR2 C>CA	4	80992753	80992755	C	CA	ANTXR2	c.207dup	NM_058172.6	NP_477520.2:p.(Ala70CysfsTer8)	NC_000004.11:g.80992755dup	(Likely) pathogenic	1 lab	2564e84e96
X:16688696 CTPS2 G>C	X	16688696	16688696	G	C	CTPS2	c.1189+7C>G	NM_175859.3	NP_787055.1:p.?	NC_000023.10:g.16688696G>C	(Likely) benign	1 lab	2565e13eda
2:88748217 FOXI3 C>T	2	88748217	88748217	C	T	FOXI3	c.772G>A	NM_001135649.3	NP_001129121.1:p.(Glu258Lys)	NC_000002.11:g.88748217C>T	VUS	1 lab	25662825e4
3:155222375 PLCH1 C>T	3	155222375	155222375	C	T	PLCH1	c.1673G>A	NM_014996.4	NP_055811.2:p.(Arg558Gln)	NC_000003.11:g.155222375C>T	VUS	1 lab	2566f78beb
7:157155929 DNAJB6 A>G	7	157155929	157155929	A	G	DNAJB6	c.140A>G	NM_058246.4	NP_490647.1:p.(Lys47Arg)	NC_000007.13:g.157155929A>G	VUS	1 lab	25684d9e0e
1:33834156 PHC2 C>T	1	33834156	33834156	C	T	PHC2	c.644G>A	NM_001385109.1	NP_001372038.1:p.(Arg215Gln)	NC_000001.10:g.33834156C>T	(Likely) benign	1 lab	25699ffb6b
12:49363980 WNT10B G>A	12	49363980	49363980	G	A	WNT10B	c.229C>T	NM_003394.4	NP_003385.2:p.(His77Tyr)	NC_000012.11:g.49363980G>A	(Likely) benign	1 lab	256a7e9ccc
8:21848365 XPO7 TG>T	8	21848365	21848366	TG	T	XPO7	c.1977del	NM_015024.5	NP_055839.3:p.(Thr660GlnfsTer21)	NC_000008.10:g.21848366del	VUS	1 lab	256adc8f61
17:29556382 NF1 G>A	17	29556382	29556382	G	A	NF1	c.2749G>A	NM_001042492.3	NP_001035957.1:p.(Val917Ile)	NC_000017.10:g.29556382G>A	VUS	1 lab	256d111c93
7:158715052 DYNC2I1 T>C	7	158715052	158715052	T	C	DYNC2I1	c.1922-16T>C	NM_018051.5	NP_060521.4:p.?	NC_000007.13:g.158715052T>C	(Likely) benign	1 lab	1c267f37cb
4:3491384 DOK7 G>T	4	3491384	3491384	G	T	DOK7	c.653-20G>T	NM_173660.5	NP_775931.3:p.?	NC_000004.11:g.3491384G>T	VUS	1 lab	25702970a1
11:19213911 CSRP3 T>C	11	19213911	19213911	T	C	CSRP3	c.85A>G	NM_003476.5	NP_003467.1:p.(Ser29Gly)	NC_000011.9:g.19213911T>C	VUS	1 lab	1bd948ebaa
4:123270368 BLTP1 G>A	4	123270368	123270368	G	A	BLTP1	c.13600G>A	NM_001384125.1	NP_001371054.1:p.(Asp4534Asn)	NC_000004.11:g.123270368G>A	(Likely) benign	1 lab	2571781804
3:186959295 MASP1 C>T	3	186959295	186959295	C	T	MASP1	c.1277G>A	NM_139125.4	NP_624302.1:p.(Gly426Glu)	NC_000003.11:g.186959295C>T	(Likely) benign	1 lab	25722c0273
12:52200324 SCN8A T>C	12	52200324	52200324	T	C	SCN8A	c.5054T>C	NM_001330260.2	NP_001317189.1:p.(Met1685Thr)	NC_000012.11:g.52200324T>C	(Likely) pathogenic	1 lab	2572361bef
19:621260 POLRMT A>C	19	621260	621260	A	C	POLRMT	c.2438T>G	NM_005035.4	NP_005026.3:p.(Phe813Cys)	NC_000019.9:g.621260A>C	VUS	1 lab	25742b1dd6
18:2763644 SMCHD1 G>A	18	2763644	2763644	G	A	SMCHD1	c.4576G>A	NM_015295.3	NP_056110.2:p.(Asp1526Asn)	NC_000018.9:g.2763644G>A	(Likely) benign	1 lab	257705a063
X:43542796 MAOA G>A	X	43542796	43542796	G	A	MAOA	c.109G>A	NM_000240.4	NP_000231.1:p.(Val37Ile)	NC_000023.10:g.43542796G>A	VUS	1 lab	25798d10e0
11:65111263 DPF2 C>CTAT	11	65111263	65111266	C	CTAT	DPF2	c.514_516dup	NM_006268.5	NP_006259.1:p.(Tyr172dup)	NC_000011.9:g.65111264_65111266dup	(Likely) benign	1 lab	2579f35015
17:29528423 NF1 C>T	17	29528423	29528423	C	T	NF1	c.1186-6C>T	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29528423C>T	(Likely) benign	1 lab	257a32c4bf
6:150114761 PCMT1 A>G	6	150114761	150114761	A	G	PCMT1	c.374A>G	NM_001360452.2	NP_001347381.1:p.(Lys125Arg)	NC_000006.11:g.150114761A>G	(Likely) benign	1 lab	257ec4044a
11:108178641 ATM C>T	11	108178641	108178641	C	T	ATM	c.5692C>T	NM_000051.4	NP_000042.3:p.(Arg1898Ter)	NC_000011.9:g.108178641C>T	(Likely) pathogenic	1 lab	1bdaa8682e
16:2820669 SRRM2 C>T	16	2820669	2820669	C	T	SRRM2	c.8200C>T	NM_016333.4	NP_057417.3:p.(Arg2734Cys)	NC_000016.9:g.2820669C>T	VUS	1 lab	258058cefb
19:39018336 RYR1 T>C	19	39018336	39018336	T	C	RYR1	c.10736T>C	NM_000540.3	NP_000531.2:p.(Val3579Ala)	NC_000019.9:g.39018336T>C	(Likely) benign	1 lab	25823301ca
X:153136560 L1CAM T>G	X	153136560	153136560	T	G	L1CAM	c.475A>C	NM_001278116.2	NP_001265045.1:p.(Asn159His)	NC_000023.10:g.153136560T>G	(Likely) benign	1 lab	2582ad51a3
6:109764622 SMPD2 C>T	6	109764622	109764622	C	T	SMPD2	c.882C>T	NM_003080.3	NP_003071.2:p.(His294=)	NC_000006.11:g.109764622C>T	(Likely) benign	1 lab	258431c101
X:19031977 ADGRG2 G>C	X	19031977	19031977	G	C	ADGRG2	c.926C>G	NM_001079858.3	NP_001073327.1:p.(Pro309Arg)	NC_000023.10:g.19031977G>C	VUS	1 lab	2585ee93d2
17:61995243 GH1 C>T	17	61995243	61995243	C	T	GH1	c.333G>A	NM_000515.5	NP_000506.2:p.(Ser111=)	NC_000017.10:g.61995243C>T	(Likely) benign	1 lab	2586a23df8
10:60553257 BICC1 T>C	10	60553257	60553257	T	C	BICC1	c.1061T>C	NM_001080512.3	NP_001073981.1:p.(Leu354Pro)	NC_000010.10:g.60553257T>C	VUS	1 lab	258751e4e9
21:46925315 COL18A1 G>GC	21	46925315	46925320	G	GC	COL18A1	c.3062dup	NM_001379500.1	NP_001366429.1:p.(Gly1022TrpfsTer65)	NC_000021.8:g.46925320dup	(Likely) pathogenic	1 lab	25875323cc
7:143043939 CLCN1 T>C	7	143043939	143043939	T	C	CLCN1	c.2365-65T>C	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143043939T>C	(Likely) benign	1 lab	1c272dcb03
X:65409750 HEPH A>G	X	65409750	65409750	A	G	HEPH	c.1033A>G	NM_001367233.3	NP_001354162.2:p.(Ile345Val)	NC_000023.10:g.65409750A>G	(Likely) benign	1 lab	2587a9647a
11:46880747 LRP4 G>GC	11	46880747	46880754	G	GC	LRP4	c.5504dup	NM_002334.4	NP_002325.2:p.(Leu1836ProfsTer24)	NC_000011.9:g.46880754dup	VUS	1 lab	25889fd534
X:54584923 GNL3L G>T	X	54584923	54584923	G	T	GNL3L	c.1501G>T	NM_001184819.2	NP_001171748.1:p.(Ala501Ser)	NC_000023.10:g.54584923G>T	(Likely) benign	1 lab	258945a83d
4:94032100 GRID2 C>T	4	94032100	94032100	C	T	GRID2	c.731C>T	NM_001510.4	NP_001501.2:p.(Thr244Ile)	NC_000004.11:g.94032100C>T	VUS	1 lab	25895b3903
16:70765456 VAC14 G>A	16	70765456	70765456	G	A	VAC14	c.1603C>T	NM_018052.5	NP_060522.3:p.(Leu535Phe)	NC_000016.9:g.70765456G>A	VUS	1 lab	258ace0a0e
9:21368008 IFNA13 A>G	9	21368008	21368008	A	G	IFNA13	c.2T>C	NM_006900.4	NP_008831.3:p.(Met1?)	NC_000009.11:g.21368008A>G	(Likely) benign	1 lab	258b629e78
19:3653519 PIP5K1C GCC>G	19	3653519	3653525	GCC	G	PIP5K1C	c.688_689del	NM_012398.3	NP_036530.1:p.(Gly230GlnfsTer114)	NC_000019.9:g.3653524_3653525del	VUS	1 lab	258b8240cf
X:32632565 DMD T>C	X	32632565	32632565	T	C	DMD	c.1337A>G	NM_004006.3	NP_003997.2:p.(His446Arg)	NC_000023.10:g.32632565T>C	(Likely) benign	1 lab	258c6b9207
10:61956386 ANK3 G>T	10	61956386	61956386	G	T	ANK3	c.1690-3C>A	NM_020987.5	NP_066267.2:p.?	NC_000010.10:g.61956386G>T	(Likely) benign	1 lab	1bdbe504dd
11:71155211 DHCR7 G>A	11	71155211	71155211	G	A	DHCR7	c.149C>T	NM_001360.3	NP_001351.2:p.(Ala50Val)	NC_000011.9:g.71155211G>A	VUS	1 lab	258fefd9dd
16:1270511 CACNA1H G>A	16	1270511	1270511	G	A	CACNA1H	c.6579G>A	NM_021098.3	NP_066921.2:p.(Ser2193=)	NC_000016.9:g.1270511G>A	(Likely) benign	1 lab	1c2b3643ef
21:33723219 URB1 G>A	21	33723219	33723219	G	A	URB1	c.2626C>T	NM_014825.3	NP_055640.2:p.(Gln876Ter)	NC_000021.8:g.33723219G>A	VUS	1 lab	259296cb69
12:80878258 PTPRQ G>A	12	80878258	80878258	G	A	PTPRQ	c.1233G>A	NM_001145026.2	NP_001138498.1:p.(Thr411=)	NC_000012.11:g.80878258G>A	(Likely) benign	1 lab	2592b1542f
11:128642754 FLI1 G>A	11	128642754	128642754	G	A	FLI1	c.463G>A	NM_002017.5	NP_002008.2:p.(Asp155Asn)	NC_000011.9:g.128642754G>A	(Likely) benign	1 lab	259303104c
15:34532894 SLC12A6 C>T	15	34532894	34532894	C	T	SLC12A6	c.2404G>A	NM_001365088.1	NP_001352017.1:p.(Glu802Lys)	NC_000015.9:g.34532894C>T	VUS	1 lab	259310d9bc
11:119215338 MFRP GTAC>AGTG	11	119215338	119215341	GTAC	AGTG	MFRP	c.898+1_898+4delinsCACT	NM_031433.4	NP_113621.1:p.?	NC_000011.9:g.119215338_119215341delinsAGTG	VUS	1 lab	2593540099
17:60061551 MED13 T>C	17	60061551	60061551	T	C	MED13	c.2869A>G	NM_005121.3	NP_005112.2:p.(Met957Val)	NC_000017.10:g.60061551T>C	(Likely) benign	1 lab	2594bc8752
2:230727762 TRIP12 G>A	2	230727762	230727762	G	A	TRIP12	c.99-2515C>T	NM_001348323.3	NP_001335252.1:p.?	NC_000002.11:g.230727762G>A	(Likely) benign	1 lab	2595a4f193
X:13337742 ATXN3L AATGCCGAGCTTCTGATAT>A	X	13337742	13337760	AATGCCGAGCTTCTGATAT	A	ATXN3L	c.294_311del	NM_001135995.2	NP_001129467.1:p.(Glu98_Ile104delinsAsp)	NC_000023.10:g.13337743_13337760del	VUS	1 lab	25963a02ec
18:42643461 SETBP1 TGCCGCCACC>T	18	42643461	42643479	TGCCGCCACC	T	SETBP1	c.4599_4607del	NM_015559.3	NP_056374.2:p.(Pro1535_Pro1537del)	NC_000018.9:g.42643471_42643479del	(Likely) benign	1 lab	25963ab8da
11:125875748 CDON G>A	11	125875748	125875748	G	A	CDON	c.1757C>T	NM_001378964.1	NP_001365893.1:p.(Pro586Leu)	NC_000011.9:g.125875748G>A	VUS	1 lab	2596766230
5:96071926 CAST G>A	5	96071926	96071926	G	A	CAST	c.681G>A	NM_001750.7	NP_001741.4:p.(Pro227=)	NC_000005.9:g.96071926G>A	VUS	1 lab	2598624a2d
16:28855742 TUFM G>A	16	28855742	28855742	G	A	TUFM	c.815C>T	NM_003321.5	NP_003312.3:p.(Pro272Leu)	NC_000016.9:g.28855742G>A	VUS	1 lab	25990bbeeb
2:38301847 CYP1B1 C>T	2	38301847	38301847	C	T	CYP1B1	c.685G>A	NM_000104.4	NP_000095.2:p.(Glu229Lys)	NC_000002.11:g.38301847C>T	(Likely) benign	1 lab	2599c35c51
14:59112128 DACT1 G>A	14	59112128	59112128	G	A	DACT1	c.676G>A	NM_001079520.2	NP_001072988.1:p.(Gly226Arg)	NC_000014.8:g.59112128G>A	VUS	1 lab	2599ee42c4
X:152990899 ABCD1 G>C	X	152990899	152990899	G	C	ABCD1	c.178G>C	NM_000033.4	NP_000024.2:p.(Val60Leu)	NC_000023.10:g.152990899G>C	VUS	1 lab	259af0084e
17:2575961 PAFAH1B1 A>G	17	2575961	2575961	A	G	PAFAH1B1	c.581A>G	NM_000430.4	NP_000421.1:p.(Asn194Ser)	NC_000017.10:g.2575961A>G	VUS	1 lab	1bdd03570e
5:112175983 APC A>C	5	112175983	112175983	A	C	APC	c.4692A>C	NM_000038.6	NP_000029.2:p.(Leu1564Phe)	NC_000005.9:g.112175983A>C	VUS	1 lab	259ba94317
5:88100593 MEF2C C>G	5	88100593	88100593	C	G	MEF2C	c.80G>C	NM_002397.5	NP_002388.2:p.(Gly27Ala)	NC_000005.9:g.88100593C>G	(Likely) pathogenic	1 lab	1c2d0862d6
3:126224567 UROC1 C>G	3	126224567	126224567	C	G	UROC1	c.790G>C	NM_144639.3	NP_653240.1:p.(Gly264Arg)	NC_000003.11:g.126224567C>G	VUS	1 lab	259c8f01f7
5:127744101 FBN2 T>A	5	127744101	127744101	T	A	FBN2	c.1078+266A>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127744101T>A	(Likely) benign	1 lab	259ca8fb24
12:57957930 KIF5A C>T	12	57957930	57957930	C	T	KIF5A	c.331C>T	NM_004984.4	NP_004975.2:p.(Arg111Ter)	NC_000012.11:g.57957930C>T	VUS	1 lab	259d523c81
1:235916546 LYST C>T	1	235916546	235916546	C	T	LYST	c.7258G>A	NM_000081.4	NP_000072.2:p.(Gly2420Arg)	NC_000001.10:g.235916546C>T	(Likely) benign	1 lab	259d8ed461
5:176639110 NSD1 G>A	5	176639110	176639110	G	A	NSD1	c.3710G>A	NM_022455.5	NP_071900.2:p.(Cys1237Tyr)	NC_000005.9:g.176639110G>A	VUS	1 lab	259dcd7d84
3:47163652 SETD2 A>T	3	47163652	47163652	A	T	SETD2	c.2474T>A	NM_014159.7	NP_054878.5:p.(Met825Lys)	NC_000003.11:g.47163652A>T	VUS	1 lab	259ef1f16a
8:41801365 KAT6A T>C	8	41801365	41801365	T	C	KAT6A	c.2129A>G	NM_006766.5	NP_006757.2:p.(Gln710Arg)	NC_000008.10:g.41801365T>C	(Likely) benign	1 lab	259ef4c33c
6:43044707 PTK7 C>A	6	43044707	43044707	C	A	PTK7	c.79+402C>A	NM_002821.5	NP_002812.2:p.?	NC_000006.11:g.43044707C>A	(Likely) benign	1 lab	259fd0ad53
4:17598700 LAP3 C>G	4	17598700	17598700	C	G	LAP3	c.1020C>G	NM_015907.3	NP_056991.2:p.(Ser340Arg)	NC_000004.11:g.17598700C>G	VUS	1 lab	25a00ba085
8:144999232 PLEC C>T	8	144999232	144999232	C	T	PLEC	c.4865G>A	NM_201384.3	NP_958786.1:p.(Arg1622Gln)	NC_000008.10:g.144999232C>T	VUS	1 lab	25a02a8021
17:7357616 CHRNB1 G>A	17	7357616	7357616	G	A	CHRNB1	c.821G>A	NM_000747.3	NP_000738.2:p.(Gly274Glu)	NC_000017.10:g.7357616G>A	VUS	1 lab	25a02e8b87
16:334380 PDIA2 C>T	16	334380	334380	C	T	PDIA2	c.200-7C>T	NM_006849.4	NP_006840.2:p.?	NC_000016.9:g.334380C>T	(Likely) benign	1 lab	25a150c8ea
1:204423879 PIK3C2B C>T	1	204423879	204423879	C	T	PIK3C2B	c.1984G>A	NM_001377334.1	NP_001364263.1:p.(Gly662Ser)	NC_000001.10:g.204423879C>T	VUS	1 lab	25a22c6983
9:39102523 CNTNAP3 C>T	9	39102523	39102523	C	T	CNTNAP3	c.2726G>A	NM_033655.5	NP_387504.2:p.(Arg909His)	NC_000009.11:g.39102523C>T	VUS	1 lab	25a24174cd
5:140590728 PCDHB12 A>G	5	140590728	140590728	A	G	PCDHB12	c.2249A>G	NM_018932.4	NP_061755.1:p.(His750Arg)	NC_000005.9:g.140590728A>G	(Likely) benign	1 lab	25a28e3d61
8:77896232 PEX2 C>T	8	77896232	77896232	C	T	PEX2	c.183G>A	NM_000318.3	NP_000309.2:p.(Trp61Ter)	NC_000008.10:g.77896232C>T	(Likely) pathogenic	1 lab	25a31a92a8
18:19353566 MIB1 T>A	18	19353566	19353566	T	A	MIB1	c.532-19T>A	NM_020774.3	NP_065825.1:p.?	NC_000018.9:g.19353566T>A	(Likely) benign	1 lab	1c2d29494b
9:139889289 CLIC3 C>T	9	139889289	139889289	C	T	CLIC3	c.555G>A	NM_004669.3	NP_004660.2:p.(Thr185=)	NC_000009.11:g.139889289C>T	VUS	1 lab	25a5d5e18f
12:66219155 HMGA2 G>C	12	66219155	66219155	G	C	HMGA2	c.105G>C	NM_003483.6	NP_003474.1:p.(Gln35His)	NC_000012.11:g.66219155G>C	VUS	1 lab	25a5fa9517
3:49083859 QRICH1 T>TTCA	3	49083859	49083861	T	TTCA	QRICH1	c.1669_1670insTGA	NM_198880.3	NP_942581.1:p.(Gln556_Lys557insMet)	NC_000003.11:g.49083860_49083861insCAT	(Likely) pathogenic	1 lab	25a71b2fcf
17:78069120 CCDC40 C>T	17	78069120	78069120	C	T	CCDC40	c.2891C>T	NM_017950.4	NP_060420.2:p.(Ala964Val)	NC_000017.10:g.78069120C>T	VUS	1 lab	25a82d519a
2:20114032 WDR35 T>A	2	20114032	20114032	T	A	WDR35	c.3128A>T	NM_020779.4	NP_065830.2:p.(His1043Leu)	NC_000002.11:g.20114032T>A	(Likely) benign	1 lab	25a97bfdc5
11:4154851 RRM1 T>C	11	4154851	4154851	T	C	RRM1	c.1964T>C	NM_001033.5	NP_001024.1:p.(Met655Thr)	NC_000011.9:g.4154851T>C	VUS	1 lab	25ac038616
19:42854406 MEGF8 G>A	19	42854406	42854406	G	A	MEGF8	c.2606G>A	NM_001271938.2	NP_001258867.1:p.(Ser869Asn)	NC_000019.9:g.42854406G>A	VUS	1 lab	25ac6c4bd0
8:144875154 SCRIB G>A	8	144875154	144875154	G	A	SCRIB	c.4009C>T	NM_182706.5	NP_874365.3:p.(Pro1337Ser)	NC_000008.10:g.144875154G>A	(Likely) benign	1 lab	25ac6eb7a1
11:125875791 CDON T>C	11	125875791	125875791	T	C	CDON	c.1714A>G	NM_001378964.1	NP_001365893.1:p.(Ser572Gly)	NC_000011.9:g.125875791T>C	(Likely) benign	1 lab	25acb7a494
2:238234221 COL6A3 C>A	2	238234221	238234221	C	A	COL6A3	c.9475G>T	NM_004369.4	NP_004360.2:p.(Glu3159Ter)	NC_000002.11:g.238234221C>A	(Likely) pathogenic	1 lab	25ade68ee1
1:155448318 ASH1L C>T	1	155448318	155448318	C	T	ASH1L	c.4343G>A	NM_018489.3	NP_060959.2:p.(Arg1448Gln)	NC_000001.10:g.155448318C>T	VUS	1 lab	25aed95255
3:77612342 ROBO2 A>T	3	77612342	77612342	A	T	ROBO2	c.1544A>T	NM_002942.5	NP_002933.1:p.(Asn515Ile)	NC_000003.11:g.77612342A>T	(Likely) benign	1 lab	1c2d506662
9:131452310 SET G>C	9	131452310	131452310	G	C	SET	c.73+376G>C	NM_003011.4	NP_003002.2:p.?	NC_000009.11:g.131452310G>C	VUS	1 lab	25b1220dfc
13:25463535 CPAP T>A	13	25463535	25463535	T	A	CPAP	c.3220A>T	NM_018451.5	NP_060921.3:p.(Thr1074Ser)	NC_000013.10:g.25463535T>A	VUS	1 lab	25b1417f4a
2:219754711 WNT10A C>T	2	219754711	219754711	C	T	WNT10A	c.382C>T	NM_025216.3	NP_079492.2:p.(Arg128Ter)	NC_000002.11:g.219754711C>T	(Likely) pathogenic	1 lab	25b2f7db09
5:149776067 TCOF1 A>G	5	149776067	149776067	A	G	TCOF1	c.4007A>G	NM_001371623.1	NP_001358552.1:p.(Lys1336Arg)	NC_000005.9:g.149776067A>G	(Likely) benign	1 lab	25b3c117f8
6:29637998 MOG G>A	6	29637998	29637998	G	A	MOG	c.593-60G>A	NM_206809.4	NP_996532.2:p.?	NC_000006.11:g.29637998G>A	(Likely) benign	1 lab	25b4340531
15:99250838 IGF1R C>T	15	99250838	99250838	C	T	IGF1R	c.142C>T	NM_000875.5	NP_000866.1:p.(Arg48Cys)	NC_000015.9:g.99250838C>T	VUS	1 lab	25b5483af7
12:57598267 LRP1 G>A	12	57598267	57598267	G	A	LRP1	c.11026G>A	NM_002332.3	NP_002323.2:p.(Glu3676Lys)	NC_000012.11:g.57598267G>A	VUS	1 lab	25b5d3e93a
17:43506940 ARHGAP27 G>A	17	43506940	43506940	G	A	ARHGAP27	c.657+49C>T	NM_001282290.2	NP_001269219.1:p.?	NC_000017.10:g.43506940G>A	(Likely) benign	1 lab	25b6808ee9
14:20845834 TEP1 C>A	14	20845834	20845834	C	A	TEP1	c.5800G>T	NM_007110.5	NP_009041.2:p.(Ala1934Ser)	NC_000014.8:g.20845834C>A	(Likely) benign	1 lab	25b87a6dac
15:49031371 CEP152 G>A	15	49031371	49031371	G	A	CEP152	c.4208C>T	NM_001194998.2	NP_001181927.1:p.(Thr1403Ile)	NC_000015.9:g.49031371G>A	(Likely) benign	1 lab	25b8ce09be
16:87344874 C16orf95 G>A	16	87344874	87344874	G	A	C16orf95	c.359C>T	NM_001195124.3	NP_001182053.1:p.(Pro120Leu)	NC_000016.9:g.87344874G>A	(Likely) benign	1 lab	25ba0043a9
7:152098857 KMT2C C>T	7	152098857	152098857	C	T	KMT2C	c.161+33854G>A	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152098857C>T	(Likely) benign	1 lab	25bac24434
2:234669331 UGT1A1 A>G	2	234669331	234669331	A	G	UGT1A1	c.398A>G	NM_000463.3	NP_000454.1:p.(Asn133Ser)	NC_000002.11:g.234669331A>G	VUS	1 lab	25bb7f05bd
12:122372176 CFAP251 C>T	12	122372176	122372176	C	T	CFAP251	c.912C>T	NM_144668.6	NP_653269.3:p.(Cys304=)	NC_000012.11:g.122372176C>T	(Likely) benign	1 lab	25bcd105e5
12:80266702 PPP1R12A T>C	12	80266702	80266702	T	C	PPP1R12A	c.254A>G	NM_002480.3	NP_002471.1:p.(Asn85Ser)	NC_000012.11:g.80266702T>C	VUS	1 lab	25bcd2af6c
X:13752303 TRAPPC2 TACTG>T	X	13752303	13752309	TACTG	T	TRAPPC2	c.-161-3_-161del	NM_001011658.4	NP_001011658.1:p.?	NC_000023.10:g.13752306_13752309del	VUS	1 lab	25bd0597a7
X:10491232 MID1 T>A	X	10491232	10491232	T	A	MID1	c.661-5A>T	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10491232T>A	(Likely) benign	1 lab	25be647a13
5:132097551 SEPTIN8 T>A	5	132097551	132097551	T	A	SEPTIN8	c.734A>T	NM_001098811.2	NP_001092281.1:p.(Glu245Val)	NC_000005.9:g.132097551T>A	VUS	1 lab	25bea6f917
15:75648441 MAN2C1 C>T	15	75648441	75648441	C	T	MAN2C1	c.2996+10G>A	NM_006715.4	NP_006706.2:p.?	NC_000015.9:g.75648441C>T	(Likely) benign	1 lab	25beb26bfa
X:38271205 OTC C>T	X	38271205	38271205	C	T	OTC	c.958C>T	NM_000531.6	NP_000522.3:p.(Arg320Ter)	NC_000023.10:g.38271205C>T	(Likely) pathogenic	1 lab	1bde828653
X:140994887 MAGEC1 A>G	X	140994887	140994887	A	G	MAGEC1	c.1697A>G	NM_005462.5	NP_005453.2:p.(Gln566Arg)	NC_000023.10:g.140994887A>G	(Likely) benign	1 lab	25c18a9b5b
19:15302671 NOTCH3 C>T	19	15302671	15302671	C	T	NOTCH3	c.687G>A	NM_000435.3	NP_000426.2:p.(Glu229=)	NC_000019.9:g.15302671C>T	VUS	1 lab	25c2cc6d7e
3:183217492 KLHL6 G>C	3	183217492	183217492	G	C	KLHL6	c.1033C>G	NM_130446.4	NP_569713.2:p.(Arg345Gly)	NC_000003.11:g.183217492G>C	VUS	1 lab	25c34c5e07
4:56291620 TMEM165 CAA>C	4	56291620	56291622	CAA	C	TMEM165	c.*2_*3del	NM_018475.5	NP_060945.2:p.?	NC_000004.11:g.56291621_56291622del	(Likely) benign	1 lab	1be4e6c912
7:31009476 GHRHR TC>T	7	31009476	31009479	TC	T	GHRHR	c.269-3del	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31009479del	(Likely) benign	1 lab	25c50ba382
3:10119870 FANCD2 C>G	3	10119870	10119870	C	G	FANCD2	c.2965C>G	NM_001018115.3	NP_001018125.1:p.(Pro989Ala)	NC_000003.11:g.10119870C>G	(Likely) benign	1 lab	25c760c183
10:88476185 LDB3 T>C	10	88476185	88476185	T	C	LDB3	c.1333T>C	NM_007078.3	NP_009009.1:p.(Tyr445His)	NC_000010.10:g.88476185T>C	(Likely) benign	1 lab	25c818eac8
9:104307045 RNF20 C>G	9	104307045	104307045	C	G	RNF20	c.629-4C>G	NM_019592.7	NP_062538.5:p.?	NC_000009.11:g.104307045C>G	(Likely) benign	1 lab	25c8249933
16:1417773 UNKL G>C	16	1417773	1417773	G	C	UNKL	c.1672C>G	NM_001372107.1	NP_001359036.1:p.(Pro558Ala)	NC_000016.9:g.1417773G>C	(Likely) benign	1 lab	25c933d33d
17:59760900 BRIP1 G>T	17	59760900	59760900	G	T	BRIP1	c.3507C>A	NM_032043.3	NP_114432.2:p.(Asp1169Glu)	NC_000017.10:g.59760900G>T	VUS	1 lab	25ca81452a
1:176681005 PAPPA2 A>G	1	176681005	176681005	A	G	PAPPA2	c.3686A>G	NM_020318.3	NP_064714.2:p.(His1229Arg)	NC_000001.10:g.176681005A>G	(Likely) benign	1 lab	25cb6946f6
4:1804636 FGFR3 C>T	4	1804636	1804636	C	T	FGFR3	c.931-783C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1804636C>T	(Likely) benign	1 lab	25cff20c5d
7:87537029 DBF4 A>G	7	87537029	87537029	A	G	DBF4	c.1576A>G	NM_006716.4	NP_006707.1:p.(Ile526Val)	NC_000007.13:g.87537029A>G	(Likely) benign	1 lab	25d1178faa
7:143080300 ZYX C>G	7	143080300	143080300	C	G	ZYX	c.908C>G	NM_003461.5	NP_003452.1:p.(Ser303Cys)	NC_000007.13:g.143080300C>G	(Likely) benign	1 lab	25d11a5035
7:48284207 ABCA13 C>T	7	48284207	48284207	C	T	ABCA13	c.1297C>T	NM_152701.5	NP_689914.3:p.(Gln433Ter)	NC_000007.13:g.48284207C>T	VUS	1 lab	25d2157a5d
9:135946508 CEL G>A	9	135946508	135946508	G	A	CEL	c.1619G>A	NM_001807.6	NP_001798.3:p.(Arg540His)	NC_000009.11:g.135946508G>A	(Likely) benign	1 lab	25d224b44f
1:39877301 MACF1 C>G	1	39877301	39877301	C	G	MACF1	c.9631-10745C>G	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39877301C>G	VUS	1 lab	1be9fbe72b
12:46246302 ARID2 A>G	12	46246302	46246302	A	G	ARID2	c.4396A>G	NM_152641.4	NP_689854.2:p.(Ser1466Gly)	NC_000012.11:g.46246302A>G	(Likely) benign	1 lab	25d4fbadb2
18:44584686 KATNAL2 G>A	18	44584686	44584686	G	A	KATNAL2	c.413G>A	NM_001387690.1	NP_001374619.1:p.(Gly138Glu)	NC_000018.9:g.44584686G>A	(Likely) benign	1 lab	25d77af5e8
16:75573823 TMEM231 T>A	16	75573823	75573823	T	A	TMEM231	c.*69A>T	NM_001077418.3	NP_001070886.1:p.?	NC_000016.9:g.75573823T>A	(Likely) benign	1 lab	25d80a1918
16:3779170 CREBBP G>A	16	3779170	3779170	G	A	CREBBP	c.5878C>T	NM_004380.3	NP_004371.2:p.(Arg1960Trp)	NC_000016.9:g.3779170G>A	VUS	1 lab	25db47ba2e
4:6303228 WFS1 C>T	4	6303228	6303228	C	T	WFS1	c.1706C>T	NM_006005.3	NP_005996.2:p.(Ala569Val)	NC_000004.11:g.6303228C>T	VUS	1 lab	25dbc8fa5f
8:42743021 RNF170 T>G	8	42743021	42743021	T	G	RNF170	c.-7-7A>C	NM_030954.4	NP_112216.3:p.?	NC_000008.10:g.42743021T>G	(Likely) benign	1 lab	25dd1a276f
8:144400186 TOP1MT AC>A	8	144400186	144400187	AC	A	TOP1MT	c.1215+1del	NM_052963.3	NP_443195.1:p.?	NC_000008.10:g.144400187del	VUS	1 lab	25ddd9fb2f
11:121016263 TECTA G>A	11	121016263	121016263	G	A	TECTA	c.3544-1G>A	NM_005422.4	NP_005413.2:p.?	NC_000011.9:g.121016263G>A	VUS	1 lab	25dde3e6b3
22:51159595 SHANK3 C>T	22	51159595	51159595	C	T	SHANK3	c.3559C>T	NM_001372044.2	NP_001358973.1:p.(Leu1187=)	NC_000022.10:g.51159595C>T	(Likely) benign	1 lab	25e1ab5b65
7:128843410 SMO C>T	7	128843410	128843410	C	T	SMO	c.517C>T	NM_005631.5	NP_005622.1:p.(Arg173Cys)	NC_000007.13:g.128843410C>T	VUS	1 lab	25e2ad0bd0
4:5755624 EVC G>C	4	5755624	5755624	G	C	EVC	c.1428G>C	NM_153717.3	NP_714928.1:p.(Glu476Asp)	NC_000004.11:g.5755624G>C	(Likely) benign	1 lab	25e4e1a3e2
8:127569394 LRATD2 C>A	8	127569394	127569394	C	A	LRATD2	c.241G>T	NM_174911.5	NP_777571.1:p.(Val81Leu)	NC_000008.10:g.127569394C>A	(Likely) benign	1 lab	25e4f877f2
15:99192890 IGF1R C>T	15	99192890	99192890	C	T	IGF1R	c.80C>T	NM_000875.5	NP_000866.1:p.(Pro27Leu)	NC_000015.9:g.99192890C>T	VUS	1 lab	25e5163730
20:42788345 JPH2 T>C	20	42788345	42788345	T	C	JPH2	c.1082A>G	NM_020433.4	NP_065166.2:p.(Lys361Arg)	NC_000020.10:g.42788345T>C	VUS	1 lab	1c2ea895f7
10:94826025 CYP26C1 C>T	10	94826025	94826025	C	T	CYP26C1	c.1174C>T	NM_183374.3	NP_899230.2:p.(Arg392Cys)	NC_000010.10:g.94826025C>T	VUS	1 lab	25e7936064
7:98987597 ARPC1B T>C	7	98987597	98987597	T	C	ARPC1B	c.462T>C	NM_005720.4	NP_005711.1:p.(Asn154=)	NC_000007.13:g.98987597T>C	(Likely) benign	1 lab	1c2f43e541
5:176722211 NSD1 AAAG>A	5	176722211	176722217	AAAG	A	NSD1	c.7846_7848del	NM_022455.5	NP_071900.2:p.(Lys2616del)	NC_000005.9:g.176722215_176722217del	VUS	1 lab	25ea459bd8
7:92732240 SAMD9 T>C	7	92732240	92732240	T	C	SAMD9	c.3171A>G	NM_017654.4	NP_060124.2:p.(Ala1057=)	NC_000007.13:g.92732240T>C	(Likely) benign	1 lab	25ee4fbbaf
1:22155886 HSPG2 C>A	1	22155886	22155886	C	A	HSPG2	c.11982G>T	NM_005529.7	NP_005520.4:p.(Glu3994Asp)	NC_000001.10:g.22155886C>A	(Likely) benign	1 lab	25ef04fac2
19:1456068 APC2 T>C	19	1456068	1456068	T	C	APC2	c.640-7T>C	NM_005883.3	NP_005874.1:p.?	NC_000019.9:g.1456068T>C	(Likely) benign	1 lab	25ef1beafe
6:39883940 MOCS1 C>T	6	39883940	39883940	C	T	MOCS1	c.455G>A	NM_005943.6	NP_005934.2:p.(Gly152Asp)	NC_000006.11:g.39883940C>T	VUS	1 lab	1bedb11e5b
3:158545090 MFSD1 C>T	3	158545090	158545090	C	T	MFSD1	c.1358C>T	NM_022736.4	NP_073573.3:p.(Ala453Val)	NC_000003.11:g.158545090C>T	VUS	1 lab	25ef6f2b2a
15:55731701 DNAAF4 T>C	15	55731701	55731701	T	C	DNAAF4	c.862A>G	NM_130810.4	NP_570722.2:p.(Lys288Glu)	NC_000015.9:g.55731701T>C	VUS	1 lab	25ef80bcb5
14:77755129 POMT2 TCTCCATGTCTTACAAA>T	14	77755129	77755150	TCTCCATGTCTTACAAA	T	POMT2	c.1213_1228del	NM_013382.7	NP_037514.2:p.(Phe405ThrfsTer5)	NC_000014.8:g.77755135_77755150del	(Likely) pathogenic	1 lab	25f0b5e584
1:152284303 FLG G>C	1	152284303	152284303	G	C	FLG	c.3059C>G	NM_002016.2	NP_002007.1:p.(Ser1020Ter)	NC_000001.10:g.152284303G>C	(Likely) pathogenic	1 lab	25f124970c
19:19221371 SLC25A42 C>T	19	19221371	19221371	C	T	SLC25A42	c.650-7C>T	NM_178526.5	NP_848621.2:p.?	NC_000019.9:g.19221371C>T	(Likely) benign	1 lab	25f1b1f86a
3:136160023 STAG1 C>T	3	136160023	136160023	C	T	STAG1	c.1546+2106G>A	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136160023C>T	(Likely) benign	1 lab	25f2792fdd
1:2435759 PLCH2 G>A	1	2435759	2435759	G	A	PLCH2	c.3358G>A	NM_014638.4	NP_055453.2:p.(Val1120Met)	NC_000001.10:g.2435759G>A	VUS	1 lab	25f2991971
18:11880998 GNAL C>T	18	11880998	11880998	C	T	GNAL	c.1241C>T	NM_182978.4	NP_892023.1:p.(Thr414Met)	NC_000018.9:g.11880998C>T	VUS	1 lab	25f3ad4086
2:179595436 TTN CT>C	2	179595436	179595437	CT	C	TTN	c.17823del	NM_001267550.2	NP_001254479.2:p.(Ile5941MetfsTer8)	NC_000002.11:g.179595437del	VUS	1 lab	1bf03ed92b
6:116443023 COL10A1 C>T	6	116443023	116443023	C	T	COL10A1	c.256G>A	NM_000493.4	NP_000484.2:p.(Gly86Arg)	NC_000006.11:g.116443023C>T	(Likely) benign	1 lab	25f63028b8
5:2748460 IRX2 T>G	5	2748460	2748460	T	G	IRX2	c.1362A>C	NM_033267.5	NP_150366.1:p.(Lys454Asn)	NC_000005.9:g.2748460T>G	VUS	1 lab	25f70bdaf1
12:112674740 HECTD4 C>A	12	112674740	112674740	C	A	HECTD4	c.5444+9G>T	NM_001388303.1	NP_001375232.1:p.?	NC_000012.11:g.112674740C>A	VUS	1 lab	25f7a1e9d1
7:42005639 GLI3 G>C	7	42005639	42005639	G	C	GLI3	c.3032C>G	NM_000168.6	NP_000159.3:p.(Thr1011Arg)	NC_000007.13:g.42005639G>C	VUS	1 lab	25f86d2de3
11:17414690 ABCC8 A>T	11	17414690	17414690	A	T	ABCC8	c.4609-15T>A	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17414690A>T	(Likely) benign	1 lab	25f9edb4c9
22:50312433 CRELD2 CGGGCCGCGCT>C	22	50312433	50312446	CGGGCCGCGCT	C	CRELD2	c.20_29del	NM_024324.5	NP_077300.3:p.(Ala7GlyfsTer85)	NC_000022.10:g.50312437_50312446del	VUS	1 lab	25fb0a97e1
9:135942008 CEL C>T	9	135942008	135942008	C	T	CEL	c.630C>T	NM_001807.6	NP_001798.3:p.(Leu210=)	NC_000009.11:g.135942008C>T	(Likely) benign	1 lab	25fb27ffe3
1:84647368 PRKACB G>T	1	84647368	84647368	G	T	PRKACB	c.250-515G>T	NM_182948.4	NP_891993.1:p.?	NC_000001.10:g.84647368G>T	(Likely) benign	1 lab	25fb85eb01
1:119469135 TBX15 G>A	1	119469135	119469135	G	A	TBX15	c.519C>T	NM_001330677.2	NP_001317606.1:p.(Tyr173=)	NC_000001.10:g.119469135G>A	(Likely) benign	1 lab	25fbd2b575
11:95528675 CEP57 C>T	11	95528675	95528675	C	T	CEP57	c.46-3721C>T	NM_014679.5	NP_055494.2:p.?	NC_000011.9:g.95528675C>T	(Likely) benign	1 lab	25fcd3702c
4:191003240 MISSING G>C	4	191003240	191003240	G	C	MISSING				NC_000004.11:g.191003240G>C	(Likely) benign	1 lab	25fd3c5bda
4:1803764 FGFR3 T>C	4	1803764	1803764	T	C	FGFR3	c.930+12T>C	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803764T>C	(Likely) benign	1 lab	25feb1bf1e
13:79175844 POU4F1 CATGTT>C	13	79175844	79175849	CATGTT	C	POU4F1	c.961_965del	NM_006237.4	NP_006228.3:p.(Asn321AspfsTer26)	NC_000013.10:g.79175845_79175849del	VUS	1 lab	26001c6e4d
11:64593948 CDC42BPG T>TGCAGGGCTGCAGGTCAC	11	64593948	64593949	T	TGCAGGGCTGCAGGTCAC	CDC42BPG	c.4592_4593insGTGACCTGCAGCCCTGC	NM_017525.3	NP_059995.2:p.(Met1532Ter)	NC_000011.9:g.64593948_64593949insGCAGGGCTGCAGGTCAC	VUS	1 lab	26005fbba7
10:1170185 WDR37 G>A	10	1170185	1170185	G	A	WDR37	c.1131G>A	NM_014023.4	NP_054742.2:p.(Val377=)	NC_000010.10:g.1170185G>A	(Likely) benign	1 lab	26040ec343
12:8074082 SLC2A3 T>C	12	8074082	8074082	T	C	SLC2A3	c.1418A>G	NM_006931.3	NP_008862.1:p.(Asp473Gly)	NC_000012.11:g.8074082T>C	(Likely) benign	1 lab	260434fc01
X:23928504 CXorf58 G>A	X	23928504	23928504	G	A	CXorf58	c.85G>A	NM_152761.3	NP_689974.2:p.(Ala29Thr)	NC_000023.10:g.23928504G>A	(Likely) benign	1 lab	2606604a79
11:126215441 DCPS C>T	11	126215441	126215441	C	T	DCPS	c.947C>T	NM_014026.6	NP_054745.1:p.(Thr316Met)	NC_000011.9:g.126215441C>T	(Likely) pathogenic	1 lab	26067bea3a
9:35736219 CREB3 T>C	9	35736219	35736219	T	C	CREB3	c.697-5T>C	NM_006368.5	NP_006359.3:p.?	NC_000009.11:g.35736219T>C	(Likely) benign	1 lab	2607a08ad3
4:15556742 CC2D2A T>G	4	15556742	15556742	T	G	CC2D2A	c.2534T>G	NM_001378615.1	NP_001365544.1:p.(Leu845Arg)	NC_000004.11:g.15556742T>G	VUS	1 lab	26098d5e0a
8:68172167 ARFGEF1 T>A	8	68172167	68172167	T	A	ARFGEF1	c.2124-6A>T	NM_006421.5	NP_006412.2:p.?	NC_000008.10:g.68172167T>A	(Likely) benign	1 lab	260a6d102a
19:12985532 MAST1 A>G	19	12985532	12985532	A	G	MAST1	c.4561A>G	NM_014975.3	NP_055790.1:p.(Ser1521Gly)	NC_000019.9:g.12985532A>G	(Likely) benign	1 lab	260b049c59
X:53222249 KDM5C G>A	X	53222249	53222249	G	A	KDM5C	c.4583C>T	NM_004187.5	NP_004178.2:p.(Pro1528Leu)	NC_000023.10:g.53222249G>A	VUS	1 lab	260b5d6d51
3:183883933 DVL3 C>T	3	183883933	183883933	C	T	DVL3	c.783C>T	NM_004423.4	NP_004414.3:p.(Gly261=)	NC_000003.11:g.183883933C>T	(Likely) benign	1 lab	260be8b4eb
21:47858079 PCNT A>G	21	47858079	47858079	A	G	PCNT	c.9102A>G	NM_006031.6	NP_006022.3:p.(Lys3034=)	NC_000021.8:g.47858079A>G	(Likely) benign	1 lab	260c4e9e33
19:12924219 RNASEH2A G>A	19	12924219	12924219	G	A	RNASEH2A	c.839G>A	NM_006397.3	NP_006388.2:p.(Arg280His)	NC_000019.9:g.12924219G>A	VUS	1 lab	260c807fdb
1:173800666 DARS2 C>A	1	173800666	173800666	C	A	DARS2	c.397-7C>A	NM_018122.5	NP_060592.2:p.?	NC_000001.10:g.173800666C>A	(Likely) benign	1 lab	260ce5006a
16:1131175 SSTR5 C>A	16	1131175	1131175	C	A	SSTR5	c.*1212C>A	NM_001053.4	NP_001044.1:p.?	NC_000016.9:g.1131175C>A	(Likely) benign	1 lab	1bf0f88e58
X:80377175 HMGN5 G>GA	X	80377175	80377187	G	GA	HMGN5	c.-123-5dup	NM_030763.3	NP_110390.1:p.?	NC_000023.10:g.80377187dup	VUS	1 lab	260e39715a
12:115112461 TBX3 G>A	12	115112461	115112461	G	A	TBX3	c.1219C>T	NM_005996.4	NP_005987.3:p.(Arg407Trp)	NC_000012.11:g.115112461G>A	VUS	1 lab	260f1dc583
11:119216312 MFRP G>GC	11	119216312	119216316	G	GC	MFRP	c.458dup	NM_031433.4	NP_113621.1:p.(Phe154LeufsTer6)	NC_000011.9:g.119216316dup	VUS	1 lab	26117ad936
19:36562513 WDR62 C>A	19	36562513	36562513	C	A	WDR62	c.938C>A	NM_001083961.2	NP_001077430.1:p.(Thr313Lys)	NC_000019.9:g.36562513C>A	VUS	1 lab	2611e92a2b
3:126724014 PLXNA1 G>A	3	126724014	126724014	G	A	PLXNA1	c.1825G>A	NM_032242.4	NP_115618.3:p.(Val609Ile)	NC_000003.11:g.126724014G>A	VUS	1 lab	2613924fe7
3:38180410 MYD88 G>C	3	38180410	38180410	G	C	MYD88	c.219G>C	NM_002468.5	NP_002459.3:p.(Arg73Ser)	NC_000003.11:g.38180410G>C	(Likely) benign	1 lab	1c31a2a1ef
1:35251030 GJB3 C>A	1	35251030	35251030	C	A	GJB3	c.667C>A	NM_024009.3	NP_076872.1:p.(Pro223Thr)	NC_000001.10:g.35251030C>A	(Likely) pathogenic	1 lab	2614eb329d
1:8403835 SLC45A1 G>A	1	8403835	8403835	G	A	SLC45A1	c.2009G>A	NM_001080397.3	NP_001073866.3:p.(Arg670Gln)	NC_000001.10:g.8403835G>A	(Likely) benign	1 lab	261562b985
20:10256175 SNAP25 G>T	20	10256175	10256175	G	T	SNAP25	c.36G>T	NM_130811.4	NP_570824.1:p.(Glu12Asp)	NC_000020.10:g.10256175G>T	VUS	1 lab	26162f0e1f
1:204131179 REN T>C	1	204131179	204131179	T	C	REN	c.211A>G	NM_000537.4	NP_000528.1:p.(Asn71Asp)	NC_000001.10:g.204131179T>C	(Likely) benign	1 lab	261864e863
6:143081559 HIVEP2 C>T	6	143081559	143081559	C	T	HIVEP2	c.5866G>A	NM_006734.4	NP_006725.3:p.(Gly1956Arg)	NC_000006.11:g.143081559C>T	VUS	1 lab	261ad2a516
2:170366686 KLHL41 G>A	2	170366686	170366686	G	A	KLHL41	c.398G>A	NM_006063.3	NP_006054.2:p.(Gly133Asp)	NC_000002.11:g.170366686G>A	(Likely) benign	1 lab	261b5761a6
12:111785587 CUX2 G>A	12	111785587	111785587	G	A	CUX2	c.3919G>A	NM_015267.4	NP_056082.2:p.(Ala1307Thr)	NC_000012.11:g.111785587G>A	(Likely) benign	1 lab	261dc814c6
12:96387608 HAL C>T	12	96387608	96387608	C	T	HAL	c.493G>A	NM_002108.4	NP_002099.1:p.(Gly165Ser)	NC_000012.11:g.96387608C>T	VUS	1 lab	263203ba76
6:87865371 ZNF292 A>G	6	87865371	87865371	A	G	ZNF292	c.62A>G	NM_015021.3	NP_055836.1:p.(Glu21Gly)	NC_000006.11:g.87865371A>G	(Likely) benign	1 lab	261ec977b3
X:3261744 MXRA5 C>A	X	3261744	3261744	C	A	MXRA5	c.131G>T	NM_015419.4	NP_056234.2:p.(Arg44Leu)	NC_000023.10:g.3261744C>A	(Likely) benign	1 lab	261f8cb85c
19:630078 POLRMT C>A	19	630078	630078	C	A	POLRMT	c.284G>T	NM_005035.4	NP_005026.3:p.(Gly95Val)	NC_000019.9:g.630078C>A	VUS	1 lab	261fb220e1
2:189856419 COL3A1 C>T	2	189856419	189856419	C	T	COL3A1	c.922C>T	NM_000090.4	NP_000081.2:p.(Arg308Ter)	NC_000002.11:g.189856419C>T	VUS	1 lab	261fe1e09f
3:113513802 ATP6V1A C>G	3	113513802	113513802	C	G	ATP6V1A	c.1072C>G	NM_001690.4	NP_001681.2:p.(Leu358Val)	NC_000003.11:g.113513802C>G	VUS	1 lab	26207957e3
3:122632517 SEMA5B T>C	3	122632517	122632517	T	C	SEMA5B	c.2144A>G	NM_001031702.4	NP_001026872.2:p.(Glu715Gly)	NC_000003.11:g.122632517T>C	VUS	1 lab	2620b4b6bd
9:94124084 AUH G>A	9	94124084	94124084	G	A	AUH	c.88C>T	NM_001698.3	NP_001689.1:p.(Leu30Phe)	NC_000009.11:g.94124084G>A	(Likely) benign	1 lab	262231ca26
9:98242748 PTCH1 C>T	9	98242748	98242748	C	T	PTCH1	c.869G>A	NM_000264.5	NP_000255.2:p.(Gly290Asp)	NC_000009.11:g.98242748C>T	VUS	1 lab	2622525875
2:31558857 XDH T>G	2	31558857	31558857	T	G	XDH	c.3969A>C	NM_000379.4	NP_000370.2:p.(Pro1323=)	NC_000002.11:g.31558857T>G	(Likely) benign	1 lab	1c3b99f50f
12:122720455 VPS33A G>A	12	122720455	122720455	G	A	VPS33A	c.1318C>T	NM_022916.6	NP_075067.2:p.(His440Tyr)	NC_000012.11:g.122720455G>A	(Likely) benign	1 lab	2623c34dca
9:88356763 AGTPBP1 T>G	9	88356763	88356763	T	G	AGTPBP1	c.-107A>C	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88356763T>G	VUS	1 lab	262597c2ee
3:11061942 SLC6A1 G>A	3	11061942	11061942	G	A	SLC6A1	c.515G>A	NM_003042.4	NP_003033.3:p.(Arg172His)	NC_000003.11:g.11061942G>A	(Likely) benign	1 lab	2625f6b21a
11:67799634 NDUFS8 A>C	11	67799634	67799634	A	C	NDUFS8	c.16A>C	NM_002496.4	NP_002487.1:p.(Thr6Pro)	NC_000011.9:g.67799634A>C	(Likely) benign	1 lab	2628eceb1d
4:88940606 PKD2 A>AATG	4	88940606	88940608	A	AATG	PKD2	c.596-3_596-2insTGA	NM_000297.4	NP_000288.1:p.?	NC_000004.11:g.88940607_88940608insTGA	(Likely) pathogenic	1 lab	26290756b4
19:50804982 MYH14 G>A	19	50804982	50804982	G	A	MYH14	c.5534G>A	NM_001145809.2	NP_001139281.1:p.(Arg1845Gln)	NC_000019.9:g.50804982G>A	VUS	1 lab	26291321a7
3:189612116 TP63 C>T	3	189612116	189612116	C	T	TP63	c.1868C>T	NM_003722.5	NP_003713.3:p.(Ala623Val)	NC_000003.11:g.189612116C>T	VUS	1 lab	262b9735bb
20:9374324 PLCB4 A>C	20	9374324	9374324	A	C	PLCB4	c.1413A>C	NM_001377142.1	NP_001364071.1:p.(Lys471Asn)	NC_000020.10:g.9374324A>C	VUS	1 lab	262d2b6a1a
2:233001357 DIS3L2 C>A	2	233001357	233001357	C	A	DIS3L2	c.878C>A	NM_152383.5	NP_689596.4:p.(Pro293His)	NC_000002.11:g.233001357C>A	(Likely) benign	1 lab	262d66c362
2:241710395 KIF1A CT>C	2	241710395	241710398	CT	C	KIF1A	c.1333del	NM_001244008.2	NP_001230937.1:p.(Arg445AspfsTer2)	NC_000002.11:g.241710398del	VUS	1 lab	262dc0ea5f
3:46944950 PTH1R A>G	3	46944950	46944950	A	G	PTH1R	c.1586A>G	NM_000316.3	NP_000307.1:p.(Asn529Ser)	NC_000003.11:g.46944950A>G	VUS	1 lab	262ea87313
X:37026817 FAM47C C>T	X	37026817	37026817	C	T	FAM47C	c.334C>T	NM_001013736.3	NP_001013758.1:p.(Pro112Ser)	NC_000023.10:g.37026817C>T	(Likely) benign	1 lab	262f0ed11b
6:152737715 SYNE1 C>G	6	152737715	152737715	C	G	SYNE1	c.5857G>C	NM_182961.4	NP_892006.3:p.(Asp1953His)	NC_000006.11:g.152737715C>G	VUS	1 lab	26309377ae
16:89628077 RPL13 A>G	16	89628077	89628077	A	G	RPL13	c.338A>G	NM_000977.4	NP_000968.2:p.(Asn113Ser)	NC_000016.9:g.89628077A>G	VUS	1 lab	2654c5ce4f
3:48617744 COL7A1 G>A	3	48617744	48617744	G	A	COL7A1	c.5086C>T	NM_000094.4	NP_000085.1:p.(Arg1696Cys)	NC_000003.11:g.48617744G>A	VUS	1 lab	1bfbcb25a3
10:129903029 MKI67 G>A	10	129903029	129903029	G	A	MKI67	c.7075C>T	NM_002417.5	NP_002408.3:p.(Arg2359Trp)	NC_000010.10:g.129903029G>A	VUS	1 lab	26325af1d8
12:125434786 DHX37 C>T	12	125434786	125434786	C	T	DHX37	c.3125G>A	NM_032656.4	NP_116045.2:p.(Arg1042His)	NC_000012.11:g.125434786C>T	VUS	1 lab	26349240e6
X:50351159 SHROOM4 A>C	X	50351159	50351159	A	C	SHROOM4	c.2983T>G	NM_020717.5	NP_065768.2:p.(Phe995Val)	NC_000023.10:g.50351159A>C	(Likely) benign	1 lab	2634cf31b5
19:42753751 ERF GGAAGAT>G	19	42753751	42753768	GGAAGAT	G	ERF	c.507_512del	NM_006494.4	NP_006485.2:p.(Ser170_Ser171del)	NC_000019.9:g.42753763_42753768del	VUS	1 lab	26373cc311
17:40716564 COASY G>A	17	40716564	40716564	G	A	COASY	c.1016G>A	NM_025233.7	NP_079509.5:p.(Arg339Gln)	NC_000017.10:g.40716564G>A	(Likely) benign	1 lab	26375c929e
17:66538119 FAM20A AACTC>A	17	66538119	66538127	AACTC	A	FAM20A	c.1109+3_1109+6del	NM_017565.4	NP_060035.2:p.?	NC_000017.10:g.66538124_66538127del	VUS	1 lab	2637cdadbf
10:73468941 CDH23 G>A	10	73468941	73468941	G	A	CDH23	c.3193G>A	NM_022124.6	NP_071407.4:p.(Ala1065Thr)	NC_000010.10:g.73468941G>A	(Likely) benign	1 lab	26384ff40f
9:135946864 CEL G>A	9	135946864	135946864	G	A	CEL	c.1975G>A	NM_001807.6	NP_001798.3:p.(Val659Met)	NC_000009.11:g.135946864G>A	VUS	1 lab	26387f3a74
2:179484554 TTN A>G	2	179484554	179484554	A	G	TTN	c.46490T>C	NM_001267550.2	NP_001254479.2:p.(Val15497Ala)	NC_000002.11:g.179484554A>G	VUS	1 lab	26392aa9d9
6:125574874 TPD52L1 G>T	6	125574874	125574874	G	T	TPD52L1	c.398G>T	NM_003287.4	NP_003278.1:p.(Arg133Leu)	NC_000006.11:g.125574874G>T	(Likely) benign	1 lab	2639a98e15
1:1459771 ATAD3A G>A	1	1459771	1459771	G	A	ATAD3A	c.1208G>A	NM_001170535.3	NP_001164006.1:p.(Arg403Gln)	NC_000001.10:g.1459771G>A	(Likely) benign	1 lab	263a374ea9
9:135946622 CEL A>G	9	135946622	135946622	A	G	CEL	c.1733A>G	NM_001807.6	NP_001798.3:p.(Glu578Gly)	NC_000009.11:g.135946622A>G	(Likely) benign	1 lab	263a571f87
4:73959425 ANKRD17 T>A	4	73959425	73959425	T	A	ANKRD17	c.5327+371A>T	NM_032217.5	NP_115593.3:p.?	NC_000004.11:g.73959425T>A	(Likely) benign	1 lab	263a617f27
17:26696021 VTN C>G	17	26696021	26696021	C	G	VTN	c.698G>C	NM_000638.4	NP_000629.3:p.(Gly233Ala)	NC_000017.10:g.26696021C>G	VUS	1 lab	263c7b61bc
1:228613001 H3-4 C>G	1	228613001	228613001	C	G	H3-4	c.26G>C	NM_003493.3	NP_003484.1:p.(Arg9Pro)	NC_000001.10:g.228613001C>G	VUS	1 lab	263d571d91
5:70895532 MCCC2 G>A	5	70895532	70895532	G	A	MCCC2	c.328G>A	NM_022132.5	NP_071415.1:p.(Asp110Asn)	NC_000005.9:g.70895532G>A	VUS	1 lab	263de03836
3:25651122 TOP2B C>T	3	25651122	25651122	C	T	TOP2B	c.3868G>A	NM_001330700.2	NP_001317629.1:p.(Ala1290Thr)	NC_000003.11:g.25651122C>T	(Likely) benign	1 lab	263e175ebd
12:111772241 CUX2 A>G	12	111772241	111772241	A	G	CUX2	c.2927-4A>G	NM_015267.4	NP_056082.2:p.?	NC_000012.11:g.111772241A>G	(Likely) benign	1 lab	26401ce167
11:2182196 INS G>A	11	2182196	2182196	G	A	INS	c.6C>T	NM_000207.3	NP_000198.1:p.(Ala2=)	NC_000011.9:g.2182196G>A	(Likely) benign	1 lab	26404420e9
17:58740702 PPM1D G>A	17	58740702	58740702	G	A	PPM1D	c.1607G>A	NM_003620.4	NP_003611.1:p.(Arg536Lys)	NC_000017.10:g.58740702G>A	(Likely) benign	1 lab	26406b6d4d
20:60905528 LAMA5 C>A	20	60905528	60905528	C	A	LAMA5	c.3979+16G>T	NM_005560.4	NP_005551.3:p.?	NC_000020.10:g.60905528C>A	(Likely) benign	1 lab	1c4231ea70
X:23019580 DDX53 A>T	X	23019580	23019580	A	T	DDX53	c.1406A>T	NM_182699.4	NP_874358.2:p.(Lys469Ile)	NC_000023.10:g.23019580A>T	VUS	1 lab	2640eb71a7
15:51791337 DMXL2 G>A	15	51791337	51791337	G	A	DMXL2	c.4084C>T	NM_001378457.1	NP_001365386.1:p.(Arg1362Ter)	NC_000015.9:g.51791337G>A	VUS	1 lab	26411dfe75
5:127467242 SLC12A2 A>AG	5	127467242	127467243	A	AG	SLC12A2	c.1188+344_1188+345insG	NM_001046.3	NP_001037.1:p.?	NC_000005.9:g.127467242_127467243insG	(Likely) benign	1 lab	264234ef29
17:66535468 FAM20A G>T	17	66535468	66535468	G	T	FAM20A	c.1361+10C>A	NM_017565.4	NP_060035.2:p.?	NC_000017.10:g.66535468G>T	(Likely) benign	1 lab	26553c0a69
13:31035539 HMGB1 TTCC>T	13	31035539	31035553	TTCC	T	HMGB1	c.600_602del	NM_002128.7	NP_002119.1:p.(Glu201del)	NC_000013.10:g.31035551_31035553del	(Likely) benign	1 lab	26446a6152
17:38188939 MED24 G>A	17	38188939	38188939	G	A	MED24	c.899C>T	NM_014815.4	NP_055630.2:p.(Thr300Met)	NC_000017.10:g.38188939G>A	(Likely) benign	1 lab	2644dc11cd
9:80537133 GNAQ C>T	9	80537133	80537133	C	T	GNAQ	c.265G>A	NM_002072.5	NP_002063.2:p.(Ala89Thr)	NC_000009.11:g.80537133C>T	VUS	1 lab	26467114d4
11:34074011 CAPRIN1 C>G	11	34074011	34074011	C	G	CAPRIN1	c.44C>G	NM_005898.5	NP_005889.3:p.(Ser15Cys)	NC_000011.9:g.34074011C>G	(Likely) benign	1 lab	2646bcd582
15:37188835 MEIS2 G>A	15	37188835	37188835	G	A	MEIS2	c.1030C>T	NM_170675.5	NP_733775.1:p.(Arg344Ter)	NC_000015.9:g.37188835G>A	(Likely) pathogenic	1 lab	26471b90cf
1:76378502 MSH4 G>A	1	76378502	76378502	G	A	MSH4	c.2741G>A	NM_002440.4	NP_002431.2:p.(Ser914Asn)	NC_000001.10:g.76378502G>A	(Likely) benign	1 lab	26473285ce
2:148997255 MBD5 T>TAC	2	148997255	148997288	T	TAC	MBD5	c.-680+6323_-680+6324dup	NM_001378120.1	NP_001365049.1:p.?	NC_000002.11:g.148997287_148997288dup	(Likely) benign	1 lab	26476de559
18:50705481 DCC C>T	18	50705481	50705481	C	T	DCC	c.1568C>T	NM_005215.4	NP_005206.2:p.(Pro523Leu)	NC_000018.9:g.50705481C>T	(Likely) benign	1 lab	264bb1628d
12:50348037 AQP2 G>A	12	50348037	50348037	G	A	AQP2	c.460G>A	NM_000486.6	NP_000477.1:p.(Gly154Arg)	NC_000012.11:g.50348037G>A	VUS	1 lab	264c19f4d6
1:227170631 COQ8A G>A	1	227170631	227170631	G	A	COQ8A	c.976G>A	NM_020247.5	NP_064632.2:p.(Asp326Asn)	NC_000001.10:g.227170631G>A	VUS	1 lab	264feffbc4
2:197157347 HECW2 G>A	2	197157347	197157347	G	A	HECW2	c.2942C>T	NM_020760.4	NP_065811.1:p.(Ala981Val)	NC_000002.11:g.197157347G>A	VUS	1 lab	1bfdec1996
9:137623912 COL5A1 C>T	9	137623912	137623912	C	T	COL5A1	c.1333-5C>T	NM_000093.4	NP_000084.3:p.?	NC_000009.11:g.137623912C>T	VUS	1 lab	1c479c7718
X:153577918 FLNA C>T	X	153577918	153577918	C	T	FLNA	c.7568G>A	NM_001110556.2	NP_001104026.1:p.(Ser2523Asn)	NC_000023.10:g.153577918C>T	(Likely) benign	1 lab	265308705d
1:226016491 EPHX1 C>T	1	226016491	226016491	C	T	EPHX1	c.61C>T	NM_001136018.4	NP_001129490.1:p.(Arg21Trp)	NC_000001.10:g.226016491C>T	(Likely) benign	1 lab	2653ec5639
7:152099244 KMT2C A>G	7	152099244	152099244	A	G	KMT2C	c.161+33467T>C	NM_170606.3	NP_733751.2:p.?	NC_000007.13:g.152099244A>G	(Likely) benign	1 lab	2655c56cc4
9:135942005 CEL G>A	9	135942005	135942005	G	A	CEL	c.627G>A	NM_001807.6	NP_001798.3:p.(Thr209=)	NC_000009.11:g.135942005G>A	(Likely) benign	1 lab	265782cb87
8:144899297 PUF60 G>C	8	144899297	144899297	G	C	PUF60	c.1163C>G	NM_078480.3	NP_510965.1:p.(Pro388Arg)	NC_000008.10:g.144899297G>C	VUS	1 lab	2657b6c32e
6:87964731 ZNF292 G>A	6	87964731	87964731	G	A	ZNF292	c.1384G>A	NM_015021.3	NP_055836.1:p.(Glu462Lys)	NC_000006.11:g.87964731G>A	VUS	1 lab	2658f9580a
2:122106141 CLASP1 C>T	2	122106141	122106141	C	T	CLASP1	c.4423G>A	NM_001395891.1	NP_001382820.1:p.(Ala1475Thr)	NC_000002.11:g.122106141C>T	(Likely) benign	1 lab	26597c1a68
17:26106007 NOS2 G>A	17	26106007	26106007	G	A	NOS2	c.1080C>T	NM_000625.4	NP_000616.3:p.(Gly360=)	NC_000017.10:g.26106007G>A	(Likely) benign	1 lab	1c00a112cc
2:80529501 CTNNA2 C>A	2	80529501	80529501	C	A	CTNNA2	c.1057-90835C>A	NM_001282597.3	NP_001269526.1:p.?	NC_000002.11:g.80529501C>A	VUS	1 lab	2659844495
14:24737822 RABGGTA A>G	14	24737822	24737822	A	G	RABGGTA	c.904T>C	NM_182836.3	NP_878256.1:p.(Cys302Arg)	NC_000014.8:g.24737822A>G	(Likely) benign	1 lab	265a0a56cd
13:102029060 NALCN G>C	13	102029060	102029060	G	C	NALCN	c.635C>G	NM_052867.4	NP_443099.1:p.(Thr212Arg)	NC_000013.10:g.102029060G>C	VUS	1 lab	265a588b3b
14:50605502 SOS2 C>A	14	50605502	50605502	C	A	SOS2	c.2786G>T	NM_006939.4	NP_008870.2:p.(Gly929Val)	NC_000014.8:g.50605502C>A	VUS	1 lab	265bbd5313
15:90191517 KIF7 T>G	15	90191517	90191517	T	G	KIF7	c.1412A>C	NM_198525.3	NP_940927.2:p.(Asp471Ala)	NC_000015.9:g.90191517T>G	VUS	1 lab	265d195415
15:89398940 ACAN A>T	15	89398940	89398940	A	T	ACAN	c.3124A>T	NM_001369268.1	NP_001356197.1:p.(Thr1042Ser)	NC_000015.9:g.89398940A>T	(Likely) benign	1 lab	2662256f61
9:98270463 PTCH1 C>T	9	98270463	98270463	C	T	PTCH1	c.181G>A	NM_000264.5	NP_000255.2:p.(Ala61Thr)	NC_000009.11:g.98270463C>T	(Likely) benign	1 lab	26623f4d15
9:14824814 FREM1 TGGA>T	9	14824814	14824821	TGGA	T	FREM1	c.2055_2057del	NM_001379081.2	NP_001366010.1:p.(Pro686del)	NC_000009.11:g.14824819_14824821del	VUS	1 lab	26627a1d04
11:5246908 HBB C>G	11	5246908	5246908	C	G	HBB	c.364G>C	NM_000518.5	NP_000509.1:p.(Glu122Gln)	NC_000011.9:g.5246908C>G	(Likely) pathogenic	1 lab	2664d5ca51
1:43892182 SZT2 G>T	1	43892182	43892182	G	T	SZT2	c.3187G>T	NM_001365999.1	NP_001352928.1:p.(Val1063Leu)	NC_000001.10:g.43892182G>T	VUS	1 lab	2664e3408e
5:92920808 NR2F1 G>C	5	92920808	92920808	G	C	NR2F1	c.79G>C	NM_005654.6	NP_005645.1:p.(Ala27Pro)	NC_000005.9:g.92920808G>C	VUS	1 lab	2666b9cf92
13:52657484 NEK5 T>C	13	52657484	52657484	T	C	NEK5	c.1484A>G	NM_001365552.1	NP_001352481.1:p.(Asn495Ser)	NC_000013.10:g.52657484T>C	VUS	1 lab	26677f95cc
2:48033768 MSH6 A>T	2	48033768	48033768	A	T	MSH6	c.3979A>T	NM_000179.3	NP_000170.1:p.(Asn1327Tyr)	NC_000002.11:g.48033768A>T	VUS	1 lab	1c0131eaa3
2:97482487 CNNM3 C>T	2	97482487	97482487	C	T	CNNM3	c.473C>T	NM_017623.5	NP_060093.3:p.(Ala158Val)	NC_000002.11:g.97482487C>T	(Likely) benign	1 lab	2668c688f4
14:67609927 GPHN G>T	14	67609927	67609927	G	T	GPHN	c.1749-152G>T	NM_020806.4	NP_065857.1:p.?	NC_000014.8:g.67609927G>T	(Likely) benign	1 lab	1c49b52252
X:53458733 HSD17B10 G>A	X	53458733	53458733	G	A	HSD17B10	c.595+13C>T	NM_004493.2	NP_004484.1:p.?	NC_000023.10:g.53458733G>A	(Likely) benign	1 lab	1c4b291787
19:11100009 SMARCA4 G>A	19	11100009	11100009	G	A	SMARCA4	c.1135G>A	NM_003072.5	NP_003063.2:p.(Ala379Thr)	NC_000019.9:g.11100009G>A	(Likely) benign	1 lab	266dce27e0
5:112173292 APC A>G	5	112173292	112173292	A	G	APC	c.2001A>G	NM_000038.6	NP_000029.2:p.(Gln667=)	NC_000005.9:g.112173292A>G	VUS	1 lab	26709752f6
10:72643759 PCBD1 C>T	10	72643759	72643759	C	T	PCBD1	c.263G>A	NM_000281.4	NP_000272.1:p.(Arg88Gln)	NC_000010.10:g.72643759C>T	(Likely) pathogenic	1 lab	26724b3d27
2:165947180 SCN3A T>C	2	165947180	165947180	T	C	SCN3A	c.5483A>G	NM_006922.4	NP_008853.3:p.(Lys1828Arg)	NC_000002.11:g.165947180T>C	(Likely) benign	1 lab	26730b0dfc
19:39003036 RYR1 C>T	19	39003036	39003036	C	T	RYR1	c.9385C>T	NM_000540.2	NP_000531.2:p.(Leu3129Phe)	NC_000019.9:g.39003036C>T	(Likely) benign	1 lab	1c4f4c8210
20:5974265 MCM8 A>G	20	5974265	5974265	A	G	MCM8	c.2354A>G	NM_032485.6	NP_115874.3:p.(Asn785Ser)	NC_000020.10:g.5974265A>G	(Likely) benign	1 lab	2675ab3ff2
1:160293281 COPA T>C	1	160293281	160293281	T	C	COPA	c.646A>G	NM_004371.4	NP_004362.2:p.(Thr216Ala)	NC_000001.10:g.160293281T>C	(Likely) benign	1 lab	2676037cd6
11:59562918 STX3 C>T	11	59562918	59562918	C	T	STX3	c.749C>T	NM_004177.5	NP_004168.1:p.(Thr250Met)	NC_000011.9:g.59562918C>T	VUS	1 lab	26766e1c27
19:22156286 ZNF208 C>T	19	22156286	22156286	C	T	ZNF208	c.1550G>A	NM_007153.3	NP_009084.2:p.(Arg517Lys)	NC_000019.9:g.22156286C>T	(Likely) benign	1 lab	2677d09c06
2:86327272 POLR1A G>A	2	86327272	86327272	G	A	POLR1A	c.101C>T	NM_015425.6	NP_056240.2:p.(Thr34Met)	NC_000002.11:g.86327272G>A	VUS	1 lab	26781ae4ac
10:100189568 HPS1 C>CA	10	100189568	100189569	C	CA	HPS1	c.846dup	NM_000195.5	NP_000186.2:p.(Gly283TrpfsTer16)	NC_000010.10:g.100189569dup	VUS	1 lab	267857cdef
3:158538074 MFSD1 C>T	3	158538074	158538074	C	T	MFSD1	c.822C>T	NM_022736.4	NP_073573.3:p.(Val274=)	NC_000003.11:g.158538074C>T	VUS	1 lab	267c223702
5:176707663 NSD1 T>C	5	176707663	176707663	T	C	NSD1	c.5720T>C	NM_022455.5	NP_071900.2:p.(Ile1907Thr)	NC_000005.9:g.176707663T>C	VUS	1 lab	26804b228a
19:11152074 SMARCA4 C>T	19	11152074	11152074	C	T	SMARCA4	c.4262C>T	NM_003072.5	NP_003063.2:p.(Ser1421Phe)	NC_000019.9:g.11152074C>T	(Likely) benign	1 lab	26815df853
12:49168273 ADCY6 G>A	12	49168273	49168273	G	A	ADCY6	c.2195C>T	NM_015270.5	NP_056085.1:p.(Ser732Phe)	NC_000012.11:g.49168273G>A	VUS	1 lab	26816d0d45
11:22283804 ANO5 G>A	11	22283804	22283804	G	A	ANO5	c.1760G>A	NM_213599.3	NP_998764.1:p.(Gly587Glu)	NC_000011.9:g.22283804G>A	VUS	1 lab	2681a166a1
6:87964813 ZNF292 G>C	6	87964813	87964813	G	C	ZNF292	c.1466G>C	NM_015021.3	NP_055836.1:p.(Ser489Thr)	NC_000006.11:g.87964813G>C	VUS	1 lab	2686240ea4
11:89075367 NOX4 G>A	11	89075367	89075367	G	A	NOX4	c.1218-6C>T	NM_016931.5	NP_058627.2:p.?	NC_000011.9:g.89075367G>A	(Likely) benign	1 lab	26882f6030
22:40661073 TNRC6B G>A	22	40661073	40661073	G	A	TNRC6B	c.839G>A	NM_001162501.2	NP_001155973.1:p.(Gly280Glu)	NC_000022.10:g.40661073G>A	(Likely) benign	1 lab	268831d0f7
19:18899202 COMP G>C	19	18899202	18899202	G	C	COMP	c.867+17C>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899202G>C	(Likely) benign	1 lab	26896d8b99
5:137727482 KDM3B G>A	5	137727482	137727482	G	A	KDM3B	c.2161G>A	NM_016604.4	NP_057688.3:p.(Gly721Arg)	NC_000005.9:g.137727482G>A	(Likely) benign	1 lab	268a1313e7
11:65306544 LTBP3 GGCGGCGTCA>G	11	65306544	65306559	GGCGGCGTCA	G	LTBP3	c.3904_3912del	NM_001130144.3	NP_001123616.1:p.(Ter1304ArgextTer9)	NC_000011.9:g.65306551_65306559del	(Likely) pathogenic	1 lab	268c6f2653
5:134364864 PITX1 AGTT>A	5	134364864	134364872	AGTT	A	PITX1	c.547_549del	NM_002653.5	NP_002644.4:p.(Asn183del)	NC_000005.9:g.134364870_134364872del	(Likely) benign	1 lab	268c9804c6
17:78064080 CCDC40 AAC>A	17	78064080	78064084	AAC	A	CCDC40	c.2832+400_2832+401del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064083_78064084del	(Likely) benign	1 lab	268d1c07ad
X:34961678 FAM47B G>A	X	34961678	34961678	G	A	FAM47B	c.730G>A	NM_152631.3	NP_689844.2:p.(Ala244Thr)	NC_000023.10:g.34961678G>A	VUS	1 lab	268f6d9f00
17:78346830 RNF213 G>A	17	78346830	78346830	G	A	RNF213	c.12807G>A	NM_001256071.3	NP_001243000.2:p.(Arg4269=)	NC_000017.10:g.78346830G>A	(Likely) benign	1 lab	268fab4fd2
8:146016654 RPL8 A>T	8	146016654	146016654	A	T	RPL8	c.499+8T>A	NM_001317782.2	NP_001304711.1:p.?	NC_000008.10:g.146016654A>T	VUS	1 lab	2690d35b85
3:129292449 PLXND1 G>A	3	129292449	129292449	G	A	PLXND1	c.2825C>T	NM_015103.3	NP_055918.3:p.(Thr942Met)	NC_000003.11:g.129292449G>A	VUS	1 lab	2690e3f148
21:46876045 COL18A1 C>T	21	46876045	46876045	C	T	COL18A1	c.107-12111C>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46876045C>T	(Likely) benign	1 lab	2691a6437e
1:145508074 RBM8A C>T	1	145508074	145508074	C	T	RBM8A	c.126C>T	NM_005105.5	NP_005096.1:p.(Ser42=)	NC_000001.10:g.145508074C>T	(Likely) benign	1 lab	2691db7b7d
2:113305002 POLR1B A>G	2	113305002	113305002	A	G	POLR1B	c.350A>G	NM_019014.6	NP_061887.2:p.(Asp117Gly)	NC_000002.11:g.113305002A>G	(Likely) benign	1 lab	2692ee4b84
15:89382153 ACAN G>A	15	89382153	89382153	G	A	ACAN	c.330G>A	NM_001369268.1	NP_001356197.1:p.(Pro110=)	NC_000015.9:g.89382153G>A	VUS	1 lab	26943998db
X:101910810 GPRASP1 G>A	X	101910810	101910810	G	A	GPRASP1	c.1969G>A	NM_001184727.2	NP_001171656.1:p.(Gly657Arg)	NC_000023.10:g.101910810G>A	VUS	1 lab	2695bb2e54
18:19751879 GATA6 C>T	18	19751879	19751879	C	T	GATA6	c.774C>T	NM_005257.6	NP_005248.2:p.(His258=)	NC_000018.9:g.19751879C>T	(Likely) benign	1 lab	2697f55c4e
6:110107652 FIG4 G>A	6	110107652	110107652	G	A	FIG4	c.2096G>A	NM_014845.6	NP_055660.1:p.(Arg699His)	NC_000006.11:g.110107652G>A	VUS	1 lab	269d041db3
12:49427545 KMT2D G>T	12	49427545	49427545	G	T	KMT2D	c.10943C>A	NM_003482.4	NP_003473.3:p.(Pro3648Gln)	NC_000012.11:g.49427545G>T	VUS	1 lab	269d5b3282
9:139913452 ABCA2 C>G	9	139913452	139913452	C	G	ABCA2	c.1625G>C	NM_001606.5	NP_001597.2:p.(Arg542Thr)	NC_000009.11:g.139913452C>G	VUS	1 lab	269e99c1d2
2:176959261 HOXD13 A>G	2	176959261	176959261	A	G	HOXD13	c.835A>G	NM_000523.4	NP_000514.2:p.(Lys279Glu)	NC_000002.11:g.176959261A>G	VUS	1 lab	269fba0e02
17:60088553 MED13 T>G	17	60088553	60088553	T	G	MED13	c.1325A>C	NM_005121.3	NP_005112.2:p.(Gln442Pro)	NC_000017.10:g.60088553T>G	(Likely) benign	1 lab	26a0f4605a
16:2147766 PKD1 G>A	16	2147766	2147766	G	A	PKD1	c.10183C>T	NM_001009944.3	NP_001009944.3:p.(Gln3395Ter)	NC_000016.9:g.2147766G>A	(Likely) pathogenic	1 lab	26a107eba5
X:153736923 FAM3A G>A	X	153736923	153736923	G	A	FAM3A	c.157C>T	NM_021806.4	NP_068578.2:p.(Arg53Trp)	NC_000023.10:g.153736923G>A	VUS	1 lab	26a5b121d8
17:78024054 CCDC40 C>T	17	78024054	78024054	C	T	CCDC40	c.1131C>T	NM_017950.4	NP_060420.2:p.(Cys377=)	NC_000017.10:g.78024054C>T	(Likely) benign	1 lab	26a5cd4e62
2:162273555 TBR1 C>A	2	162273555	162273555	C	A	TBR1	c.634C>A	NM_006593.4	NP_006584.1:p.(Pro212Thr)	NC_000002.11:g.162273555C>A	VUS	1 lab	26a66ff736
15:75699822 SIN3A T>C	15	75699822	75699822	T	C	SIN3A	c.1318-337A>G	NM_001145358.2	NP_001138830.1:p.?	NC_000015.9:g.75699822T>C	(Likely) benign	1 lab	26a68bbe0e
3:195514421 MUC4 G>A	3	195514421	195514421	G	A	MUC4	c.4030C>T	NM_018406.7	NP_060876.5:p.(Pro1344Ser)	NC_000003.11:g.195514421G>A	VUS	1 lab	26a6950e55
16:2121912 TSC2 G>A	16	2121912	2121912	G	A	TSC2	c.2074G>A	NM_000548.5	NP_000539.2:p.(Val692Ile)	NC_000016.9:g.2121912G>A	(Likely) benign	1 lab	26a7cce51a
12:112892351 PTPN11 T>C	12	112892351	112892351	T	C	PTPN11	c.526-17T>C	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112892351T>C	(Likely) benign	1 lab	26a88d0765
X:112022266 AMOT C>T	X	112022266	112022266	C	T	AMOT	c.3116G>A	NM_001113490.2	NP_001106962.1:p.(Arg1039His)	NC_000023.10:g.112022266C>T	(Likely) benign	1 lab	26a96500a7
15:57213297 TCF12 G>A	15	57213297	57213297	G	A	TCF12	c.148+1G>A	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57213297G>A	VUS	1 lab	26a9d10a56
16:88776390 CTU2 T>C	16	88776390	88776390	T	C	CTU2	c.188T>C	NM_001012759.3	NP_001012777.1:p.(Leu63Pro)	NC_000016.9:g.88776390T>C	VUS	1 lab	26aaececac
11:694955 DEAF1 GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC>G	11	694955	694999	GGCCGCGGCCGCCGCCGCCACAGCGGCCGCGGCCGCCACC	G	DEAF1	c.54_92del	NM_021008.4	NP_066288.2:p.(Val19_Ala31del)	NC_000011.9:g.694961_694999del	(Likely) benign	1 lab	26ac2ca714
6:102074320 GRIK2 G>A	6	102074320	102074320	G	A	GRIK2	c.349G>A	NM_021956.5	NP_068775.1:p.(Ala117Thr)	NC_000006.11:g.102074320G>A	VUS	1 lab	26ad09b8af
1:235969405 LYST T>C	1	235969405	235969405	T	C	LYST	c.3031A>G	NM_000081.3	NP_000072.2:p.(Lys1011Glu)	NC_000001.10:g.235969405T>C	(Likely) benign	1 lab	1c5331db61
11:71208554 NADSYN1 A>C	11	71208554	71208554	A	C	NADSYN1	c.1790A>C	NM_018161.5	NP_060631.2:p.(Glu597Ala)	NC_000011.9:g.71208554A>C	VUS	1 lab	26af94bdb4
18:31326257 ASXL3 C>T	18	31326257	31326257	C	T	ASXL3	c.6445C>T	NM_030632.3	NP_085135.1:p.(Gln2149Ter)	NC_000018.9:g.31326257C>T	(Likely) pathogenic	1 lab	26b049eda6
12:7551135 CD163L1 CAG>C	12	7551135	7551137	CAG	C	CD163L1	c.1452_1453del	NM_174941.6	NP_777601.3:p.(Cys485LeufsTer18)	NC_000012.11:g.7551136_7551137del	VUS	1 lab	26b0714aa0
17:10300146 MYH8 C>G	17	10300146	10300146	C	G	MYH8	c.4336G>C	NM_002472.3	NP_002463.2:p.(Asp1446His)	NC_000017.10:g.10300146C>G	(Likely) benign	1 lab	26b101f6f9
10:102748269 TWNK G>T	10	102748269	102748269	G	T	TWNK	c.302G>T	NM_021830.5	NP_068602.2:p.(Ser101Ile)	NC_000010.10:g.102748269G>T	(Likely) benign	1 lab	26b214cf96
20:52789643 CYP24A1 A>T	20	52789643	52789643	A	T	CYP24A1	c.259-5T>A	NM_000782.5	NP_000773.2:p.?	NC_000020.10:g.52789643A>T	VUS	1 lab	26b298ff77
4:109782136 COL25A1 G>A	4	109782136	109782136	G	A	COL25A1	c.1198-9C>T	NM_198721.4	NP_942014.1:p.?	NC_000004.11:g.109782136G>A	VUS	1 lab	26b2dcb077
7:91864771 KRIT1 T>A	7	91864771	91864771	T	A	KRIT1	c.675A>T	NM_194454.3	NP_919436.1:p.(Ala225=)	NC_000007.13:g.91864771T>A	(Likely) benign	1 lab	26b7be0ef4
21:34860773 DNAJC28 G>A	21	34860773	34860773	G	A	DNAJC28	c.928C>T	NM_001040192.3	NP_001035282.1:p.(Arg310Ter)	NC_000021.8:g.34860773G>A	VUS	1 lab	26baf38e74
2:51254705 NRXN1 A>T	2	51254705	51254705	A	T	NRXN1	c.707T>A	NM_001330078.2	NP_001317007.1:p.(Val236Glu)	NC_000002.11:g.51254705A>T	VUS	1 lab	26bbf96d36
17:80899313 TBCD G>A	17	80899313	80899313	G	A	TBCD	c.3518G>A	NM_005993.5	NP_005984.3:p.(Arg1173His)	NC_000017.10:g.80899313G>A	(Likely) benign	1 lab	26bd9151a3
15:72552867 PARP6 C>T	15	72552867	72552867	C	T	PARP6	c.708G>A	NM_001323532.2	NP_001310461.1:p.(Leu236=)	NC_000015.9:g.72552867C>T	VUS	1 lab	26be71ed69
9:133911578 LAMC3 G>A	9	133911578	133911578	G	A	LAMC3	c.835G>A	NM_006059.4	NP_006050.3:p.(Glu279Lys)	NC_000009.11:g.133911578G>A	(Likely) benign	1 lab	1c09a77366
16:1268246 CACNA1H T>C	16	1268246	1268246	T	C	CACNA1H	c.5482T>C	NM_021098.3	NP_066921.2:p.(Cys1828Arg)	NC_000016.9:g.1268246T>C	VUS	1 lab	26bfe36ae8
6:91263237 MAP3K7 G>A	6	91263237	91263237	G	A	MAP3K7	c.676C>T	NM_145331.3	NP_663304.1:p.(Arg226Trp)	NC_000006.11:g.91263237G>A	VUS	1 lab	26c0b8efc6
1:204944497 NFASC C>T	1	204944497	204944497	C	T	NFASC	c.1657C>T	NM_001005388.3	NP_001005388.2:p.(Leu553Phe)	NC_000001.10:g.204944497C>T	VUS	1 lab	26c18b4ebc
14:24739201 RABGGTA G>C	14	24739201	24739201	G	C	RABGGTA	c.385C>G	NM_182836.3	NP_878256.1:p.(Leu129Val)	NC_000014.8:g.24739201G>C	(Likely) benign	1 lab	26c2e63ca6
12:102164769 GNPTAB C>T	12	102164769	102164769	C	T	GNPTAB	c.933+5G>A	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102164769C>T	(Likely) benign	1 lab	26c507c8d0
11:44129273 EXT2 C>T	11	44129273	44129273	C	T	EXT2	c.11C>T	NM_207122.2	NP_997005.1:p.(Ser4Leu)	NC_000011.9:g.44129273C>T	VUS	1 lab	26c6bf840e
14:68060675 PIGH G>A	14	68060675	68060675	G	A	PIGH	c.181-6C>T	NM_004569.5	NP_004560.1:p.?	NC_000014.8:g.68060675G>A	(Likely) benign	1 lab	26c73d9a2c
14:75514859 MLH3 C>T	14	75514859	75514859	C	T	MLH3	c.1500G>A	NM_001040108.2	NP_001035197.1:p.(Pro500=)	NC_000014.8:g.75514859C>T	(Likely) benign	1 lab	26c8f0ca70
15:28483349 HERC2 C>T	15	28483349	28483349	C	T	HERC2	c.3763G>A	NM_004667.6	NP_004658.3:p.(Glu1255Lys)	NC_000015.9:g.28483349C>T	VUS	1 lab	26c947dd37
3:121994791 CASR G>A	3	121994791	121994791	G	A	CASR	c.1510G>A	NM_000388.4	NP_000379.3:p.(Val504Met)	NC_000003.11:g.121994791G>A	(Likely) benign	1 lab	26ca849061
19:36228099 KMT2B G>T	19	36228099	36228099	G	T	KMT2B	c.7485G>T	NM_014727.3	NP_055542.1:p.(Gln2495His)	NC_000019.9:g.36228099G>T	VUS	1 lab	26cb82dc34
2:55155637 EML6 T>G	2	55155637	55155637	T	G	EML6	c.3863T>G	NM_001039753.4	NP_001034842.2:p.(Val1288Gly)	NC_000002.11:g.55155637T>G	(Likely) benign	1 lab	26cc8fa027
21:33074699 SCAF4 C>T	21	33074699	33074699	C	T	SCAF4	c.322-7G>A	NM_020706.2	NP_065757.1:p.?	NC_000021.8:g.33074699C>T	(Likely) benign	1 lab	26ccc5ca45
2:118588196 DDX18 G>A	2	118588196	118588196	G	A	DDX18	c.1909G>A	NM_006773.4	NP_006764.3:p.(Gly637Ser)	NC_000002.11:g.118588196G>A	VUS	1 lab	26cf72e026
7:151945141 KMT2C G>A	7	151945141	151945141	G	A	KMT2C	c.2378C>T	NM_170606.3	NP_733751.2:p.(Ser793Leu)	NC_000007.13:g.151945141G>A	(Likely) benign	1 lab	26cfa13391
16:84129263 MBTPS1 G>A	16	84129263	84129263	G	A	MBTPS1	c.569C>T	NM_003791.4	NP_003782.1:p.(Pro190Leu)	NC_000016.9:g.84129263G>A	VUS	1 lab	26d033fd77
1:22160337 HSPG2 T>C	1	22160337	22160337	T	C	HSPG2	c.10802A>G	NM_005529.7	NP_005520.4:p.(Tyr3601Cys)	NC_000001.10:g.22160337T>C	VUS	1 lab	26d36c3179
20:34022105 GDF5 A>AT	20	34022105	34022106	A	AT	GDF5	c.1107_1108insA	NM_000557.5	NP_000548.2:p.(Tyr370IlefsTer2)	NC_000020.10:g.34022105_34022106insT	(Likely) pathogenic	1 lab	26d3b7c5a7
3:12393134 PPARG GATTCCTTCACTGATAC>G	3	12393134	12393151	GATTCCTTCACTGATAC	G	PPARG	c.-8-28067_-8-28052del	NM_138711.6	NP_619725.3:p.?	NC_000003.11:g.12393136_12393151del	VUS	1 lab	26d3d90d13
X:152083699 ZNF185 G>A	X	152083699	152083699	G	A	ZNF185	c.176G>A	NM_001395254.1	NP_001382183.1:p.(Arg59Gln)	NC_000023.10:g.152083699G>A	(Likely) benign	1 lab	26d445ba8f
22:51150075 SHANK3 T>C	22	51150075	51150075	T	C	SHANK3	c.2359+9T>C	NM_001372044.2	NP_001358973.1:p.?	NC_000022.10:g.51150075T>C	(Likely) benign	1 lab	26d4b14ae5
2:1812919 MYT1L G>A	2	1812919	1812919	G	A	MYT1L	c.3101C>T	NM_001303052.2	NP_001289981.1:p.(Ala1034Val)	NC_000002.11:g.1812919G>A	(Likely) pathogenic	1 lab	26d51ba03b
1:115282512 CSDE1 C>T	1	115282512	115282512	C	T	CSDE1	c.1-1G>A	NM_001007553.3	NP_001007554.1:p.?	NC_000001.10:g.115282512C>T	(Likely) pathogenic	1 lab	26d8c5b5ce
7:48528891 ABCA13 AC>A	7	48528891	48528893	AC	A	ABCA13	c.13243del	NM_152701.5	NP_689914.3:p.(Ile4416PhefsTer17)	NC_000007.13:g.48528893del	VUS	1 lab	26dbbac5e5
12:80658934 OTOGL A>C	12	80658934	80658934	A	C	OTOGL	c.2168A>C	NM_001378609.3	NP_001365538.2:p.(Tyr723Ser)	NC_000012.11:g.80658934A>C	VUS	1 lab	26dd438bd4
X:135572504 BRS3 T>C	X	135572504	135572504	T	C	BRS3	c.647T>C	NM_001727.2	NP_001718.1:p.(Ile216Thr)	NC_000023.10:g.135572504T>C	VUS	1 lab	26df8de274
1:200950222 KIF21B C>T	1	200950222	200950222	C	T	KIF21B	c.3845G>A	NM_001252102.2	NP_001239031.1:p.(Gly1282Asp)	NC_000001.10:g.200950222C>T	VUS	1 lab	26e0536134
2:32475109 NLRC4 G>A	2	32475109	32475109	G	A	NLRC4	c.1824C>T	NM_021209.4	NP_067032.3:p.(Ala608=)	NC_000002.11:g.32475109G>A	(Likely) benign	1 lab	33d39670b6
18:19075751 GREB1L A>G	18	19075751	19075751	A	G	GREB1L	c.3146+5A>G	NM_001142966.3	NP_001136438.1:p.?	NC_000018.9:g.19075751A>G	(Likely) benign	1 lab	26e4e32a40
4:124011739 AFG2A T>C	4	124011739	124011739	T	C	AFG2A	c.2219T>C	NM_145207.3	NP_660208.2:p.(Leu740Ser)	NC_000004.11:g.124011739T>C	(Likely) benign	1 lab	26e6581688
2:48027313 MSH6 C>G	2	48027313	48027313	C	G	MSH6	c.2191C>G	NM_000179.3	NP_000170.1:p.(Gln731Glu)	NC_000002.11:g.48027313C>G	VUS	1 lab	26e8a06c96
10:103991397 PITX3 C>G	10	103991397	103991397	C	G	PITX3	c.269G>C	NM_005029.4	NP_005020.1:p.(Ser90Thr)	NC_000010.10:g.103991397C>G	VUS	1 lab	26e8c5e396
7:44228522 GCK C>T	7	44228522	44228522	C	T	GCK	c.31G>A	NM_000162.5	NP_000153.1:p.(Ala11Thr)	NC_000007.13:g.44228522C>T	(Likely) benign	1 lab	26e8fe1724
14:21793041 RPGRIP1 A>G	14	21793041	21793041	A	G	RPGRIP1	c.2027A>G	NM_020366.4	NP_065099.3:p.(Tyr676Cys)	NC_000014.8:g.21793041A>G	VUS	1 lab	26ea4d5a04
2:127809840 BIN1 C>A	2	127809840	127809840	C	A	BIN1	c.1362G>T	NM_139343.3	NP_647593.1:p.(Gly454=)	NC_000002.11:g.127809840C>A	(Likely) benign	1 lab	26ec7a0d0e
22:32108987 PRR14L G>A	22	32108987	32108987	G	A	PRR14L	c.4838C>T	NM_173566.3	NP_775837.2:p.(Ser1613Leu)	NC_000022.10:g.32108987G>A	(Likely) benign	1 lab	26ecca2aca
16:88871016 CDT1 A>G	16	88871016	88871016	A	G	CDT1	c.292A>G	NM_030928.4	NP_112190.2:p.(Ile98Val)	NC_000016.9:g.88871016A>G	VUS	1 lab	26ed139e76
12:58022926 B4GALNT1 C>T	12	58022926	58022926	C	T	B4GALNT1	c.716G>A	NM_001478.5	NP_001469.1:p.(Arg239Gln)	NC_000012.11:g.58022926C>T	(Likely) benign	1 lab	26ed26a46d
X:18622383 CDKL5 T>C	X	18622383	18622383	T	C	CDKL5	c.1339T>C	NM_001323289.2	NP_001310218.1:p.(Phe447Leu)	NC_000023.10:g.18622383T>C	VUS	1 lab	26f03f2f1e
20:57478578 GNAS C>T	20	57478578	57478578	C	T	GNAS	c.258-8C>T	NM_000516.7	NP_000507.1:p.?	NC_000020.10:g.57478578C>T	(Likely) benign	1 lab	26f31925e2
7:117120191 CFTR C>CTT	7	117120191	117120198	C	CTT	CFTR	c.49_50dup	NM_000492.4	NP_000483.3:p.(Trp19AlafsTer7)	NC_000007.13:g.117120197_117120198dup	(Likely) pathogenic	1 lab	26f3edb86d
4:184588206 TRAPPC11 A>G	4	184588206	184588206	A	G	TRAPPC11	c.375-7A>G	NM_021942.6	NP_068761.4:p.?	NC_000004.11:g.184588206A>G	VUS	1 lab	270adfe327
17:65916168 BPTF TAAG>T	17	65916168	65916172	TAAG	T	BPTF	c.5468_5470del	NM_182641.4	NP_872579.2:p.(Lys1823del)	NC_000017.10:g.65916170_65916172del	VUS	1 lab	26f4280cd6
12:53343158 KRT18 A>G	12	53343158	53343158	A	G	KRT18	c.201A>G	NM_000224.3	NP_000215.1:p.(Ile67Met)	NC_000012.11:g.53343158A>G	(Likely) benign	1 lab	26f444d4b9
1:39723639 MACF1 T>G	1	39723639	39723639	T	G	MACF1	c.467T>G	NM_001394062.1	NP_001380991.1:p.(Ile156Ser)	NC_000001.10:g.39723639T>G	VUS	1 lab	26f573fdbc
X:150839594 PASD1 G>A	X	150839594	150839594	G	A	PASD1	c.1156G>A	NM_173493.3	NP_775764.2:p.(Glu386Lys)	NC_000023.10:g.150839594G>A	(Likely) benign	1 lab	26f5e249e0
6:152777145 SYNE1 G>T	6	152777145	152777145	G	T	SYNE1	c.2603C>A	NM_182961.4	NP_892006.3:p.(Thr868Asn)	NC_000006.11:g.152777145G>T	(Likely) benign	1 lab	26f7ebfdcd
2:216257690 FN1 C>T	2	216257690	216257690	C	T	FN1	c.4033G>A	NM_212482.4	NP_997647.2:p.(Gly1345Ser)	NC_000002.11:g.216257690C>T	(Likely) benign	1 lab	26f83b045c
1:1470807 TMEM240 C>T	1	1470807	1470807	C	T	TMEM240	c.454G>A	NM_001114748.2	NP_001108220.1:p.(Ala152Thr)	NC_000001.10:g.1470807C>T	(Likely) benign	1 lab	26f8817a2b
3:47164507 SETD2 C>T	3	47164507	47164507	C	T	SETD2	c.1619G>A	NM_014159.7	NP_054878.5:p.(Arg540Gln)	NC_000003.11:g.47164507C>T	VUS	1 lab	26f913e18a
X:152960004 SLC6A8 G>T	X	152960004	152960004	G	T	SLC6A8	c.1512G>T	NM_005629.4	NP_005620.1:p.(Met504Ile)	NC_000023.10:g.152960004G>T	(Likely) benign	1 lab	26f91b81b6
12:114804078 TBX5 G>A	12	114804078	114804078	G	A	TBX5	c.874C>T	NM_181486.4	NP_852259.1:p.(Gln292Ter)	NC_000012.11:g.114804078G>A	(Likely) pathogenic	1 lab	26f9e5d2dd
13:96258288 DZIP1 C>T	13	96258288	96258288	C	T	DZIP1	c.1446G>A	NM_198968.4	NP_945319.1:p.(Leu482=)	NC_000013.10:g.96258288C>T	VUS	1 lab	26fa87e8ff
11:64898466 SYVN1 T>G	11	64898466	64898466	T	G	SYVN1	c.866A>C	NM_172230.3	NP_757385.1:p.(Asn289Thr)	NC_000011.9:g.64898466T>G	(Likely) benign	1 lab	26fa91ba6b
5:148389763 SH3TC2 G>A	5	148389763	148389763	G	A	SH3TC2	c.3327+70C>T	NM_024577.3	NP_078853.2:p.?	NC_000005.9:g.148389763G>A	(Likely) benign	1 lab	33d431a799
9:140669704 EHMT1 G>A	9	140669704	140669704	G	A	EHMT1	c.1791G>A	NM_024757.5	NP_079033.4:p.(Ala597=)	NC_000009.11:g.140669704G>A	VUS	1 lab	26fc25e0c3
11:2190969 TH C>T	11	2190969	2190969	C	T	TH	c.223G>A	NM_000360.4	NP_000351.2:p.(Glu75Lys)	NC_000011.9:g.2190969C>T	VUS	1 lab	26fc3703e2
3:43021135 GASK1A A>G	3	43021135	43021135	A	G	GASK1A	c.1A>G	NM_001129908.3	NP_001123380.2:p.(Met1?)	NC_000003.11:g.43021135A>G	VUS	1 lab	26fc5bbdda
6:43017813 CUL7 C>T	6	43017813	43017813	C	T	CUL7	c.1457G>A	NM_014780.5	NP_055595.2:p.(Cys486Tyr)	NC_000006.11:g.43017813C>T	(Likely) benign	1 lab	26fcb47079
1:86847934 ODF2L T>C	1	86847934	86847934	T	C	ODF2L	c.615A>G	NM_001366781.1	NP_001353710.1:p.(Glu205=)	NC_000001.10:g.86847934T>C	VUS	1 lab	26fd311e63
7:156529221 LMBR1 C>T	7	156529221	156529221	C	T	LMBR1	c.758-2270G>A	NM_022458.4	NP_071903.2:p.?	NC_000007.13:g.156529221C>T	(Likely) benign	1 lab	26fe6d824a
5:120021905 PRR16 G>C	5	120021905	120021905	G	C	PRR16	c.416G>C	NM_001300783.2	NP_001287712.1:p.(Arg139Thr)	NC_000005.9:g.120021905G>C	(Likely) benign	1 lab	2700ef1deb
11:108115589 ATM AC>A	11	108115589	108115590	AC	A	ATM	c.738del	NM_000051.4	NP_000042.3:p.(Arg248GlufsTer7)	NC_000011.9:g.108115590del	(Likely) pathogenic	1 lab	1c0cb6f3f5
1:6500413 ESPN C>T	1	6500413	6500413	C	T	ESPN	c.588C>T	NM_031475.3	NP_113663.2:p.(Gly196=)	NC_000001.10:g.6500413C>T	(Likely) benign	1 lab	270141cba4
5:139227951 NRG2 C>T	5	139227951	139227951	C	T	NRG2	c.2104G>A	NM_004883.3	NP_004874.1:p.(Ala702Thr)	NC_000005.9:g.139227951C>T	(Likely) benign	1 lab	27030c883e
20:57485130 GNAS G>A	20	57485130	57485130	G	A	GNAS	c.964G>A	NM_000516.7	NP_000507.1:p.(Glu322Lys)	NC_000020.10:g.57485130G>A	VUS	1 lab	2703253595
14:78710114 NRXN3 C>T	14	78710114	78710114	C	T	NRXN3	c.678C>T	NM_001330195.2	NP_001317124.1:p.(Thr226=)	NC_000014.8:g.78710114C>T	(Likely) benign	1 lab	270342bcb7
12:49420090 KMT2D C>T	12	49420090	49420090	C	T	KMT2D	c.15659G>A	NM_003482.4	NP_003473.3:p.(Arg5220His)	NC_000012.11:g.49420090C>T	VUS	1 lab	2704be6c60
12:122257482 SETD1B C>T	12	122257482	122257482	C	T	SETD1B	c.3591C>T	NM_001353345.2	NP_001340274.1:p.(Ala1197=)	NC_000012.11:g.122257482C>T	(Likely) benign	1 lab	27069f9982
16:89404137 ANKRD11 T>C	16	89404137	89404137	T	C	ANKRD11	c.-59-20651A>G	NM_013275.6	NP_037407.4:p.?	NC_000016.9:g.89404137T>C	(Likely) benign	1 lab	2707534670
22:30857353 SEC14L3 T>C	22	30857353	30857353	T	C	SEC14L3	c.1025A>G	NM_174975.5	NP_777635.1:p.(Tyr342Cys)	NC_000022.10:g.30857353T>C	(Likely) benign	1 lab	2707c071bb
19:53761683 VN1R2 G>A	19	53761683	53761683	G	A	VN1R2	c.55G>A	NM_173856.2	NP_776255.2:p.(Ala19Thr)	NC_000019.9:g.53761683G>A	VUS	1 lab	270a9e06c3
11:119169229 CBL C>CTGG	11	119169229	119169232	C	CTGG	CBL	c.2414_2416dup	NM_005188.4	NP_005179.2:p.(Leu805_Asp806insVal)	NC_000011.9:g.119169230_119169232dup	VUS	1 lab	270c2f0df1
14:92959940 SLC24A4 G>A	14	92959940	92959940	G	A	SLC24A4	c.1837G>A	NM_153646.4	NP_705932.2:p.(Val613Ile)	NC_000014.8:g.92959940G>A	(Likely) benign	1 lab	270ced5de3
4:5627483 EVC2 A>G	4	5627483	5627483	A	G	EVC2	c.2039T>C	NM_147127.5	NP_667338.3:p.(Leu680Pro)	NC_000004.11:g.5627483A>G	VUS	1 lab	270e33f095
19:50363282 PTOV1 A>G	19	50363282	50363282	A	G	PTOV1	c.1081A>G	NM_001394010.1	NP_001380939.1:p.(Ile361Val)	NC_000019.9:g.50363282A>G	VUS	1 lab	270e4bac6c
X:19032033 ADGRG2 G>T	X	19032033	19032033	G	T	ADGRG2	c.870C>A	NM_001079858.3	NP_001073327.1:p.(His290Gln)	NC_000023.10:g.19032033G>T	(Likely) benign	1 lab	270e8d778f
17:7106812 DLG4 G>C	17	7106812	7106812	G	C	DLG4	c.436C>G	NM_001321075.3	NP_001308004.1:p.(Leu146Val)	NC_000017.10:g.7106812G>C	VUS	1 lab	270f5349b4
2:44528214 SLC3A1 C>T	2	44528214	44528214	C	T	SLC3A1	c.1084C>T	NM_000341.4	NP_000332.2:p.(Arg362Cys)	NC_000002.11:g.44528214C>T	(Likely) pathogenic	1 lab	2710ca234f
1:209961803 IRF6 G>A	1	209961803	209961803	G	A	IRF6	c.1366C>T	NM_006147.4	NP_006138.1:p.(Pro456Ser)	NC_000001.10:g.209961803G>A	(Likely) benign	1 lab	2710da082b
22:51065110 ARSA C>T	22	51065110	51065110	C	T	ARSA	c.763G>A	NM_000487.6	NP_000478.3:p.(Glu255Lys)	NC_000022.10:g.51065110C>T	(Likely) pathogenic	1 lab	33d4af4ac4
8:11995461 USP17L2 T>G	8	11995461	11995461	T	G	USP17L2	c.809A>C	NM_201402.3	NP_958804.2:p.(His270Pro)	NC_000008.10:g.11995461T>G	(Likely) benign	1 lab	2713589966
3:129183513 IFT122 T>C	3	129183513	129183513	T	C	IFT122	c.452T>C	NM_052989.3	NP_443715.1:p.(Met151Thr)	NC_000003.11:g.129183513T>C	(Likely) benign	1 lab	2713f650fb
1:155870191 RIT1 ATCTT>A	1	155870191	155870199	ATCTT	A	RIT1	c.644_647del	NM_006912.6	NP_008843.1:p.(Lys215IlefsTer3)	NC_000001.10:g.155870196_155870199del	(Likely) benign	1 lab	2715798064
17:61995451 GH1 T>C	17	61995451	61995451	T	C	GH1	c.217A>G	NM_000515.5	NP_000506.2:p.(Asn73Asp)	NC_000017.10:g.61995451T>C	VUS	1 lab	271657e931
3:47165531 SETD2 C>T	3	47165531	47165531	C	T	SETD2	c.595G>A	NM_014159.7	NP_054878.5:p.(Ala199Thr)	NC_000003.11:g.47165531C>T	(Likely) benign	1 lab	27166d53cc
13:43148519 TNFSF11 A>G	13	43148519	43148519	A	G	TNFSF11	c.80A>G	NM_003701.4	NP_003692.1:p.(Glu27Gly)	NC_000013.10:g.43148519A>G	(Likely) benign	1 lab	2716f2c15e
17:29559093 NF1 A>T	17	29559093	29559093	A	T	NF1	c.3200A>T	NM_001042492.3	NP_001035957.1:p.(Asp1067Val)	NC_000017.10:g.29559093A>T	(Likely) benign	1 lab	271757d902
9:35802259 NPR2 G>C	9	35802259	35802259	G	C	NPR2	c.1689G>C	NM_003995.4	NP_003986.2:p.(Gln563His)	NC_000009.11:g.35802259G>C	VUS	1 lab	2717c76d72
7:143956466 OR2A7 G>T	7	143956466	143956466	G	T	OR2A7	c.256C>A	NM_001005328.2	NP_001005328.1:p.(His86Asn)	NC_000007.13:g.143956466G>T	(Likely) benign	1 lab	2718a9ab58
13:23913254 SACS ATGATT>A	13	23913254	23913260	ATGATT	A	SACS	c.4756_4760del	NM_014363.6	NP_055178.3:p.(Asn1586TyrfsTer3)	NC_000013.10:g.23913256_23913260del	(Likely) pathogenic	1 lab	1c0dbc42d1
15:51293256 AP4E1 ACT>A	15	51293256	51293260	ACT	A	AP4E1	c.3132_3133del	NM_007347.5	NP_031373.2:p.(Trp1045ValfsTer6)	NC_000015.9:g.51293259_51293260del	VUS	1 lab	271a48dba0
2:71801512 DYSF C>G	2	71801512	71801512	C	G	DYSF	c.3402+11C>G	NM_001130987.2	NP_001124459.1:p.?	NC_000002.11:g.71801512C>G	(Likely) benign	1 lab	271bcdb3c0
3:197687102 LMLN A>G	3	197687102	197687102	A	G	LMLN	c.-15A>G	NM_001136049.3	NP_001129521.3:p.?	NC_000003.11:g.197687102A>G	(Likely) benign	1 lab	271ce30297
X:103432995 FAM199X G>A	X	103432995	103432995	G	A	FAM199X	c.996+8G>A	NM_207318.4	NP_997201.1:p.?	NC_000023.10:g.103432995G>A	(Likely) benign	1 lab	271d1c08f1
15:45389859 DUOX2 G>A	15	45389859	45389859	G	A	DUOX2	c.3646C>T	NM_001363711.2	NP_001350640.1:p.(Arg1216Trp)	NC_000015.9:g.45389859G>A	VUS	1 lab	271d35232c
12:7045891 ATN1 A>ACAGCAGCAGCAGCAGCAG	12	7045891	7045938	A	ACAGCAGCAGCAGCAGCAG	ATN1	c.1491_1508dup	NM_001007026.2	NP_001007027.1:p.(Gln497_Gln502dup)	NC_000012.11:g.7045921_7045938dup	(Likely) benign	1 lab	1c12af1cd4
1:240371525 FMN2 C>T	1	240371525	240371525	C	T	FMN2	c.3413C>T	NM_020066.5	NP_064450.3:p.(Ala1138Val)	NC_000001.10:g.240371525C>T	VUS	1 lab	271f0d4aca
9:101904859 TGFBR1 C>T	9	101904859	101904859	C	T	TGFBR1	c.847C>T	NM_004612.4	NP_004603.1:p.(His283Tyr)	NC_000009.11:g.101904859C>T	(Likely) pathogenic	1 lab	272049b369
19:1470021 APC2 T>G	19	1470021	1470021	T	G	APC2	c.6721T>G	NM_005883.3	NP_005874.1:p.(Ser2241Ala)	NC_000019.9:g.1470021T>G	(Likely) benign	1 lab	27215e858b
15:89400416 ACAN G>C	15	89400416	89400416	G	C	ACAN	c.4600G>C	NM_001369268.1	NP_001356197.1:p.(Val1534Leu)	NC_000015.9:g.89400416G>C	(Likely) benign	1 lab	27238530dc
5:14143853 TRIO G>A	5	14143853	14143853	G	A	TRIO	c.19G>A	NM_007118.4	NP_009049.2:p.(Gly7Arg)	NC_000005.9:g.14143853G>A	(Likely) benign	1 lab	2725a395d0
16:8999195 USP7 G>C	16	8999195	8999195	G	C	USP7	c.1429-7C>G	NM_003470.3	NP_003461.2:p.?	NC_000016.9:g.8999195G>C	VUS	1 lab	272652d0e2
20:39316966 MAFB G>C	20	39316966	39316966	G	C	MAFB	c.525C>G	NM_005461.5	NP_005452.2:p.(Ser175Arg)	NC_000020.10:g.39316966G>C	VUS	1 lab	272871c841
2:179394730 TTN A>AT	2	179394730	179394736	A	AT	TTN	c.106487dup	NM_001267550.1	NP_001254479.1:p.(Asn35496LysfsTer9)	NC_000002.11:g.179394736dup	(Likely) pathogenic	1 lab	1c5ccd6f8c
21:34924192 SON G>A	21	34924192	34924192	G	A	SON	c.2655G>A	NM_138927.4	NP_620305.3:p.(Met885Ile)	NC_000021.8:g.34924192G>A	VUS	1 lab	272b6d2d4c
5:66405922 MAST4 A>G	5	66405922	66405922	A	G	MAST4	c.1357-4A>G	NM_001164664.2	NP_001158136.1:p.?	NC_000005.9:g.66405922A>G	(Likely) benign	1 lab	272bf7af15
21:47746506 PCNT A>G	21	47746506	47746506	A	G	PCNT	c.267+3A>G	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47746506A>G	VUS	1 lab	272cc50243
1:43904443 SZT2 A>G	1	43904443	43904443	A	G	SZT2	c.6411A>G	NM_015284.4	NP_056099.3:p.(Thr2137=)	NC_000001.10:g.43904443A>G	(Likely) benign	1 lab	1c5eed35fc
19:36224135 KMT2B C>T	19	36224135	36224135	C	T	KMT2B	c.6685C>T	NM_014727.3	NP_055542.1:p.(Pro2229Ser)	NC_000019.9:g.36224135C>T	(Likely) benign	1 lab	272ee039e2
22:25152619 PIWIL3 G>A	22	25152619	25152619	G	A	PIWIL3	c.409C>T	NM_001255975.1	NP_001242904.1:p.(Arg137Cys)	NC_000022.10:g.25152619G>A	VUS	1 lab	273096cade
17:57743466 CLTC T>G	17	57743466	57743466	T	G	CLTC	c.1647T>G	NM_004859.4	NP_004850.1:p.(Ile549Met)	NC_000017.10:g.57743466T>G	VUS	1 lab	1c5f0616e5
4:106157703 TET2 T>G	4	106157703	106157703	T	G	TET2	c.2604T>G	NM_001127208.3	NP_001120680.1:p.(Phe868Leu)	NC_000004.11:g.106157703T>G	(Likely) benign	1 lab	27333f9ef4
X:110494767 CAPN6 T>C	X	110494767	110494767	T	C	CAPN6	c.893+10A>G	NM_014289.4	NP_055104.2:p.?	NC_000023.10:g.110494767T>C	(Likely) benign	1 lab	273496c955
12:56474145 ERBB3 G>A	12	56474145	56474145	G	A	ERBB3	c.61G>A	NM_001982.4	NP_001973.2:p.(Glu21Lys)	NC_000012.11:g.56474145G>A	VUS	1 lab	2734b03d13
1:158631092 SPTA1 T>C	1	158631092	158631092	T	C	SPTA1	c.2572A>G	NM_003126.4	NP_003117.2:p.(Lys858Glu)	NC_000001.10:g.158631092T>C	VUS	1 lab	2734b537f2
12:121435388 HNF1A A>G	12	121435388	121435388	A	G	HNF1A	c.1421A>G	NM_000545.8	NP_000536.6:p.(Gln474Arg)	NC_000012.11:g.121435388A>G	VUS	1 lab	2735846b6d
8:145737179 RECQL4 G>A	8	145737179	145737179	G	A	RECQL4	c.3394-7C>T	NM_004260.4	NP_004251.4:p.?	NC_000008.10:g.145737179G>A	VUS	1 lab	2736a9594c
16:24185815 PRKCB C>CT	16	24185815	24185830	C	CT	PRKCB	c.1332-9dup	NM_002738.7	NP_002729.2:p.?	NC_000016.9:g.24185830dup	(Likely) benign	1 lab	2738236ae1
7:1784308 ELFN1 C>T	7	1784308	1784308	C	T	ELFN1	c.76C>T	NM_001128636.4	NP_001122108.1:p.(Arg26Cys)	NC_000007.13:g.1784308C>T	(Likely) benign	1 lab	2738c84fcc
3:186302391 DNAJB11 A>ATTGTGTGTGT	3	186302391	186302392	A	ATTGTGTGTGT	DNAJB11	c.1012+13_1012+14insTTGTGTGTGT	NM_016306.5	NP_057390.1:p.?	NC_000003.11:g.186302391_186302392insTTGTGTGTGT	(Likely) benign	1 lab	1c5fc5c081
1:16073496 TMEM82 G>A	1	16073496	16073496	G	A	TMEM82	c.892G>A	NM_001013641.3	NP_001013663.1:p.(Glu298Lys)	NC_000001.10:g.16073496G>A	VUS	1 lab	27399716ac
9:135940167 CEL T>C	9	135940167	135940167	T	C	CEL	c.340+18T>C	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135940167T>C	(Likely) benign	1 lab	273a26dbb4
10:26286158 MYO3A C>T	10	26286158	26286158	C	T	MYO3A	c.479C>T	NM_017433.5	NP_059129.3:p.(Thr160Met)	NC_000010.10:g.26286158C>T	VUS	1 lab	273b472b77
7:44189377 GCK C>T	7	44189377	44189377	C	T	GCK	c.661G>A	NM_000162.5	NP_000153.1:p.(Glu221Lys)	NC_000007.13:g.44189377C>T	(Likely) pathogenic	1 lab	273bbd8f2c
18:77170428 NFATC1 C>T	18	77170428	77170428	C	T	NFATC1	c.153C>T	NM_001278669.2	NP_001265598.1:p.(Asn51=)	NC_000018.9:g.77170428C>T	(Likely) benign	1 lab	273c125830
12:120660773 PXN G>A	12	120660773	120660773	G	A	PXN	c.386C>T	NM_001385981.1	NP_001372910.1:p.(Pro129Leu)	NC_000012.11:g.120660773G>A	(Likely) benign	1 lab	273c14cebc
15:28422144 HERC2 G>A	15	28422144	28422144	G	A	HERC2	c.9384C>T	NM_004667.6	NP_004658.3:p.(Tyr3128=)	NC_000015.9:g.28422144G>A	(Likely) benign	1 lab	273cf5a719
16:8862698 ABAT G>A	16	8862698	8862698	G	A	ABAT	c.684G>A	NM_020686.6	NP_065737.2:p.(Thr228=)	NC_000016.9:g.8862698G>A	(Likely) benign	1 lab	1c615f8ffe
6:33144212 COL11A2 T>C	6	33144212	33144212	T	C	COL11A2	c.2167A>G	NM_080680.3	NP_542411.2:p.(Lys723Glu)	NC_000006.11:g.33144212T>C	VUS	1 lab	273e6e7eec
7:92734359 SAMD9 T>A	7	92734359	92734359	T	A	SAMD9	c.1052A>T	NM_017654.4	NP_060124.2:p.(Asp351Val)	NC_000007.13:g.92734359T>A	(Likely) benign	1 lab	273e76a594
18:2906764 EMILIN2 TCCCCGACGCCCGGCAGAGGCGCCCTCGC>T	18	2906764	2906797	TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T	EMILIN2	c.2360-11_2376del	NM_032048.3	NP_114437.2:p.?	NC_000018.9:g.2906770_2906797del	VUS	1 lab	2740336059
11:65113245 DPF2 C>T	11	65113245	65113245	C	T	DPF2	c.746C>T	NM_006268.5	NP_006259.1:p.(Pro249Leu)	NC_000011.9:g.65113245C>T	VUS	1 lab	274086aa44
19:43763046 PSG9 ACCATATCGGTC>A	19	43763046	43763059	ACCATATCGGTC	A	PSG9	c.940_950del	NM_002784.5	NP_002775.3:p.(Asp314TrpfsTer5)	NC_000019.9:g.43763049_43763059del	VUS	1 lab	27411bd661
X:13624615 EGFL6 G>A	X	13624615	13624615	G	A	EGFL6	c.638G>A	NM_015507.4	NP_056322.2:p.(Gly213Glu)	NC_000023.10:g.13624615G>A	(Likely) benign	1 lab	274304dd80
2:216251667 FN1 T>C	2	216251667	216251667	T	C	FN1	c.4357A>G	NM_212482.2	NP_997647.1:p.(Thr1453Ala)	NC_000002.11:g.216251667T>C	(Likely) benign	1 lab	1c620fa4ab
11:71260047 KRTAP5-9 G>T	11	71260047	71260047	G	T	KRTAP5-9	c.344G>T	NM_005553.4	NP_005544.4:p.(Cys115Phe)	NC_000011.9:g.71260047G>T	(Likely) benign	1 lab	2744a07111
3:111286403 CD96 T>C	3	111286403	111286403	T	C	CD96	c.452T>C	NM_005816.5	NP_005807.1:p.(Ile151Thr)	NC_000003.11:g.111286403T>C	(Likely) benign	1 lab	2744f8a384
X:153707209 LAGE3 C>T	X	153707209	153707209	C	T	LAGE3	c.46G>A	NM_006014.5	NP_006005.2:p.(Asp16Asn)	NC_000023.10:g.153707209C>T	(Likely) benign	1 lab	27453331e4
17:75471618 SEPTIN9 G>A	17	75471618	75471618	G	A	SEPTIN9	c.722-6608G>A	NM_001113491.2	NP_001106963.1:p.?	NC_000017.10:g.75471618G>A	VUS	1 lab	274776d306
16:2816369 SRRM2 G>A	16	2816369	2816369	G	A	SRRM2	c.5840G>A	NM_016333.4	NP_057417.3:p.(Arg1947His)	NC_000016.9:g.2816369G>A	VUS	1 lab	2747e02ff0
X:130409069 IGSF1 C>T	X	130409069	130409069	C	T	IGSF1	c.3376G>A	NM_001555.5	NP_001546.2:p.(Gly1126Ser)	NC_000023.10:g.130409069C>T	(Likely) benign	1 lab	2748aa5f89
2:108875261 SULT1C3 C>G	2	108875261	108875261	C	G	SULT1C3	c.598C>G	NM_001320878.2	NP_001307807.1:p.(Leu200Val)	NC_000002.11:g.108875261C>G	VUS	1 lab	2748e4dcaf
9:138683916 KCNT1 AC>A	9	138683916	138683917	AC	A	KCNT1	c.3618del	NM_020822.3	NP_065873.2:p.(His1206GlnfsTer59)	NC_000009.11:g.138683917del	VUS	1 lab	274a87bc68
X:65242343 VSIG4 C>T	X	65242343	65242343	C	T	VSIG4	c.963-1G>A	NM_007268.3	NP_009199.1:p.?	NC_000023.10:g.65242343C>T	VUS	1 lab	274be7520e
5:140579736 PCDHB11 C>CT	5	140579736	140579737	C	CT	PCDHB11	c.390dup	NM_018931.3	NP_061754.1:p.(Pro131SerfsTer51)	NC_000005.9:g.140579737dup	(Likely) benign	1 lab	274c902ded
14:70418951 SMOC1 A>T	14	70418951	70418951	A	T	SMOC1	c.196A>T	NM_001034852.3	NP_001030024.1:p.(Met66Leu)	NC_000014.8:g.70418951A>T	VUS	1 lab	1c13905cff
5:145524030 LARS1 C>T	5	145524030	145524030	C	T	LARS1	c.1655+5G>A	NM_020117.11	NP_064502.9:p.?	NC_000005.9:g.145524030C>T	VUS	1 lab	274dd3cd20
10:121587062 INPP5F C>A	10	121587062	121587062	C	A	INPP5F	c.3169C>A	NM_014937.4	NP_055752.1:p.(Pro1057Thr)	NC_000010.10:g.121587062C>A	VUS	1 lab	274e136610
5:127637109 FBN2 C>G	5	127637109	127637109	C	G	FBN2	c.6011G>C	NM_001999.4	NP_001990.2:p.(Gly2004Ala)	NC_000005.9:g.127637109C>G	VUS	1 lab	274ea8d75e
12:121970712 KDM2B G>A	12	121970712	121970712	G	A	KDM2B	c.930C>T	NM_032590.5	NP_115979.3:p.(Ser310=)	NC_000012.11:g.121970712G>A	(Likely) benign	1 lab	2751e38905
2:230744788 TRIP12 T>C	2	230744788	230744788	T	C	TRIP12	c.8A>G	NM_001348323.3	NP_001335252.1:p.(Asn3Ser)	NC_000002.11:g.230744788T>C	(Likely) benign	1 lab	2754eaa2f8
21:44486409 CBS C>T	21	44486409	44486409	C	T	CBS	c.395G>A	NM_000071.3	NP_000062.1:p.(Arg132His)	NC_000021.8:g.44486409C>T	VUS	1 lab	2754f7dda0
12:88443126 RLIG1 T>G	12	88443126	88443126	T	G	RLIG1	c.*927T>G	NM_001009894.3	NP_001009894.2:p.?	NC_000012.11:g.88443126T>G	VUS	1 lab	2755c0c58d
19:55086403 LILRA2 C>T	19	55086403	55086403	C	T	LILRA2	c.558C>T	NM_001130917.3	NP_001124389.2:p.(Ser186=)	NC_000019.9:g.55086403C>T	VUS	1 lab	27560b7dda
16:16276370 ABCC6 C>T	16	16276370	16276370	C	T	ABCC6	c.2146G>A	NM_001171.6	NP_001162.5:p.(Glu716Lys)	NC_000016.9:g.16276370C>T	VUS	1 lab	27564e5e3f
12:8988131 A2ML1 G>A	12	8988131	8988131	G	A	A2ML1	c.512G>A	NM_144670.6	NP_653271.3:p.(Trp171Ter)	NC_000012.11:g.8988131G>A	VUS	1 lab	1c15ef6fcf
19:55363674 KIR3DL2 T>A	19	55363674	55363674	T	A	KIR3DL2	c.292T>A	NM_006737.4	NP_006728.2:p.(Ser98Thr)	NC_000019.9:g.55363674T>A	(Likely) benign	1 lab	275798d1ed
7:75686793 MDH2 G>A	7	75686793	75686793	G	A	MDH2	c.301G>A	NM_005918.4	NP_005909.2:p.(Gly101Arg)	NC_000007.13:g.75686793G>A	VUS	1 lab	275a10f83d
21:47851668 PCNT G>C	21	47851668	47851668	G	C	PCNT	c.8290G>C	NM_006031.6	NP_006022.3:p.(Glu2764Gln)	NC_000021.8:g.47851668G>C	(Likely) benign	1 lab	275a52af42
15:90210965 PLIN1 G>A	15	90210965	90210965	G	A	PLIN1	c.831C>T	NM_002666.5	NP_002657.3:p.(Ser277=)	NC_000015.9:g.90210965G>A	(Likely) benign	1 lab	275c174719
10:76789774 KAT6B G>C	10	76789774	76789774	G	C	KAT6B	c.5192G>C	NM_012330.4	NP_036462.2:p.(Ser1731Thr)	NC_000010.10:g.76789774G>C	VUS	1 lab	275d6353b0
11:111896970 DLAT C>T	11	111896970	111896970	C	T	DLAT	c.328C>T	NM_001931.5	NP_001922.2:p.(Arg110Cys)	NC_000011.9:g.111896970C>T	VUS	1 lab	275dfec13c
X:152710348 TREX2 G>A	X	152710348	152710348	G	A	TREX2	c.541C>T	NM_080701.4	NP_542432.2:p.(Arg181Trp)	NC_000023.10:g.152710348G>A	(Likely) benign	1 lab	2761c7a910
X:41056621 USP9X A>T	X	41056621	41056621	A	T	USP9X	c.4238A>T	NM_001039591.3	NP_001034680.2:p.(Asp1413Val)	NC_000023.10:g.41056621A>T	(Likely) benign	1 lab	27632c1b67
16:20990671 DNAH3 A>C	16	20990671	20990671	A	C	DNAH3	c.7919T>G	NM_001347886.2	NP_001334815.1:p.(Leu2640Arg)	NC_000016.9:g.20990671A>C	(Likely) benign	1 lab	27633c9d67
18:43417604 SIGLEC15 T>C	18	43417604	43417604	T	C	SIGLEC15	c.239T>C	NM_213602.3	NP_998767.1:p.(Ile80Thr)	NC_000018.9:g.43417604T>C	VUS	1 lab	2764f71b3e
16:88803144 PIEZO1 C>T	16	88803144	88803144	C	T	PIEZO1	c.1199G>A	NM_001142864.4	NP_001136336.2:p.(Arg400Gln)	NC_000016.9:g.88803144C>T	(Likely) benign	1 lab	2765744edc
22:51159602 SHANK3 C>T	22	51159602	51159602	C	T	SHANK3	c.3566C>T	NM_001372044.2	NP_001358973.1:p.(Ala1189Val)	NC_000022.10:g.51159602C>T	VUS	1 lab	2765c07c19
X:153693206 PLXNA3 C>T	X	153693206	153693206	C	T	PLXNA3	c.2038C>T	NM_017514.5	NP_059984.3:p.(Pro680Ser)	NC_000023.10:g.153693206C>T	(Likely) benign	1 lab	2765fea854
9:118982353 PAPPA A>G	9	118982353	118982353	A	G	PAPPA	c.2056A>G	NM_002581.5	NP_002572.2:p.(Thr686Ala)	NC_000009.11:g.118982353A>G	(Likely) benign	1 lab	27660d26c5
1:6206811 CHD5 G>T	1	6206811	6206811	G	T	CHD5	c.1504C>A	NM_015557.3	NP_056372.1:p.(Pro502Thr)	NC_000001.10:g.6206811G>T	(Likely) benign	1 lab	276733e40f
16:4650314 C16orf96 C>T	16	4650314	4650314	C	T	C16orf96	c.3422C>T	NM_001145011.2	NP_001138483.1:p.(Pro1141Leu)	NC_000016.9:g.4650314C>T	(Likely) benign	1 lab	2767cc6810
8:6302592 MCPH1 A>C	8	6302592	6302592	A	C	MCPH1	c.1349A>C	NM_024596.5	NP_078872.3:p.(Lys450Thr)	NC_000008.10:g.6302592A>C	(Likely) benign	1 lab	276801012f
16:89623933 SPG7 G>A	16	89623933	89623933	G	A	SPG7	c.*432G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89623933G>A	VUS	1 lab	276949e878
2:170063508 LRP2 A>G	2	170063508	170063508	A	G	LRP2	c.6722T>C	NM_004525.3	NP_004516.2:p.(Val2241Ala)	NC_000002.11:g.170063508A>G	VUS	1 lab	27697ec29a
5:251201 SDHA T>C	5	251201	251201	T	C	SDHA	c.1646T>C	NM_004168.4	NP_004159.2:p.(Leu549Pro)	NC_000005.9:g.251201T>C	VUS	1 lab	276a95d365
7:151864411 KMT2C C>T	7	151864411	151864411	C	T	KMT2C	c.9570G>A	NM_170606.3	NP_733751.2:p.(Leu3190=)	NC_000007.13:g.151864411C>T	(Likely) benign	1 lab	276b2676c9
19:48205244 BICRA G>A	19	48205244	48205244	G	A	BICRA	c.4255G>A	NM_001394372.1	NP_001381301.1:p.(Ala1419Thr)	NC_000019.9:g.48205244G>A	(Likely) benign	1 lab	276c137fc0
13:114164669 SLC9D1 G>T	13	114164669	114164669	G	T	SLC9D1	c.1155G>T	NM_017905.6	NP_060375.4:p.(Thr385=)	NC_000013.10:g.114164669G>T	(Likely) benign	1 lab	276c312ee1
11:64031574 PLCB3 G>A	11	64031574	64031574	G	A	PLCB3	c.2642G>A	NM_000932.5	NP_000923.1:p.(Gly881Glu)	NC_000011.9:g.64031574G>A	(Likely) benign	1 lab	276cba84f5
10:71144671 HK1 G>A	10	71144671	71144671	G	A	HK1	c.1839G>A	NM_000188.3	NP_000179.2:p.(Ala613=)	NC_000010.10:g.71144671G>A	VUS	1 lab	276d47eef9
12:49437499 KMT2D G>A	12	49437499	49437499	G	A	KMT2D	c.5386C>T	NM_003482.4	NP_003473.3:p.(Arg1796Trp)	NC_000012.11:g.49437499G>A	(Likely) benign	1 lab	276d593e90
3:186389577 HRG T>C	3	186389577	186389577	T	C	HRG	c.557T>C	NM_000412.5	NP_000403.1:p.(Val186Ala)	NC_000003.11:g.186389577T>C	VUS	1 lab	276fd7eb53
22:51009960 CPT1B C>T	22	51009960	51009960	C	T	CPT1B	c.1584G>A	NM_152246.3	NP_689452.1:p.(Ala528=)	NC_000022.10:g.51009960C>T	VUS	1 lab	27711af8a1
13:103514431 ERCC5 C>G	13	103514431	103514431	C	G	ERCC5	c.932C>G	NM_000123.4	NP_000114.3:p.(Ser311Cys)	NC_000013.10:g.103514431C>G	VUS	1 lab	2773ab1910
3:111710312 ABHD10 T>C	3	111710312	111710312	T	C	ABHD10	c.665T>C	NM_018394.4	NP_060864.1:p.(Ile222Thr)	NC_000003.11:g.111710312T>C	VUS	1 lab	2774de116b
3:151161267 IGSF10 C>T	3	151161267	151161267	C	T	IGSF10	c.5468G>A	NM_178822.5	NP_849144.2:p.(Ser1823Asn)	NC_000003.11:g.151161267C>T	VUS	1 lab	2775017df8
1:57476352 DAB1 C>T	1	57476352	57476352	C	T	DAB1	c.*15+1G>A	NM_001365792.1	NP_001352721.1:p.?	NC_000001.10:g.57476352C>T	VUS	1 lab	27750d2bb7
7:107418637 SLC26A3 G>A	7	107418637	107418637	G	A	SLC26A3	c.1497C>T	NM_000111.3	NP_000102.1:p.(Ile499=)	NC_000007.13:g.107418637G>A	VUS	1 lab	2775e383bc
12:102813404 IGF1 G>A	12	102813404	102813404	G	A	IGF1	c.285C>T	NM_000618.5	NP_000609.1:p.(Cys95=)	NC_000012.11:g.102813404G>A	(Likely) benign	1 lab	2776ee5a8c
12:88487748 CEP290 AT>A	12	88487748	88487750	AT	A	CEP290	c.3107del	NM_025114.4	NP_079390.3:p.(Asn1036MetfsTer12)	NC_000012.11:g.88487750del	VUS	1 lab	2777c1c0cd
19:13409943 CACNA1A GTGT>G	19	13409943	13409954	GTGT	G	CACNA1A	c.2501_2503del	NM_001127222.2	NP_001120694.1:p.(Asn834del)	NC_000019.9:g.13409952_13409954del	(Likely) benign	1 lab	27781cabc0
16:23080538 USP31 A>G	16	23080538	23080538	A	G	USP31	c.2888T>C	NM_020718.4	NP_065769.3:p.(Val963Ala)	NC_000016.9:g.23080538A>G	(Likely) benign	1 lab	277898be26
6:43267663 SLC22A7 G>A	6	43267663	43267663	G	A	SLC22A7	c.686G>A	NM_153320.2	NP_696961.2:p.(Arg229His)	NC_000006.11:g.43267663G>A	VUS	1 lab	27790868fd
2:219529899 RNF25 GGCT>G	2	219529899	219529905	GGCT	G	RNF25	c.642_644del	NM_022453.3	NP_071898.2:p.(Ala215del)	NC_000002.11:g.219529903_219529905del	VUS	1 lab	27791fb523
16:69370442 COG8 A>G	16	69370442	69370442	A	G	COG8	c.551T>C	NM_032382.5	NP_115758.3:p.(Leu184Pro)	NC_000016.9:g.69370442A>G	VUS	1 lab	2779fc1302
10:127462481 MMP21 T>C	10	127462481	127462481	T	C	MMP21	c.616A>G	NM_147191.1	NP_671724.1:p.(Ser206Gly)	NC_000010.10:g.127462481T>C	VUS	1 lab	2779fdb365
9:35802016 NPR2 G>C	9	35802016	35802016	G	C	NPR2	c.1632+19G>C	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35802016G>C	(Likely) benign	1 lab	277aa019de
10:28905193 WAC C>T	10	28905193	28905193	C	T	WAC	c.1648C>T	NM_016628.5	NP_057712.2:p.(Arg550Ter)	NC_000010.10:g.28905193C>T	(Likely) pathogenic	1 lab	277af465e2
2:220421365 OBSL1 C>T	2	220421365	220421365	C	T	OBSL1	c.4147G>A	NM_015311.3	NP_056126.1:p.(Val1383Ile)	NC_000002.11:g.220421365C>T	VUS	1 lab	277fae4e8f
2:179523788 TTN G>A	2	179523788	179523788	G	A	TTN	c.37397C>T	NM_001267550.2	NP_001254479.2:p.(Pro12466Leu)	NC_000002.11:g.179523788G>A	VUS	1 lab	2780d1a7ea
19:18120784 ARRDC2 G>A	19	18120784	18120784	G	A	ARRDC2	c.785G>A	NM_015683.2	NP_056498.1:p.(Arg262Gln)	NC_000019.9:g.18120784G>A	VUS	1 lab	27818383c3
1:225562529 DNAH14 T>C	1	225562529	225562529	T	C	DNAH14	c.12458T>C	NM_001367479.1	NP_001354408.1:p.(Leu4153Pro)	NC_000001.10:g.225562529T>C	(Likely) benign	1 lab	2783169d66
X:118116819 LONRF3 A>G	X	118116819	118116819	A	G	LONRF3	c.972A>G	NM_001031855.3	NP_001027026.1:p.(Leu324=)	NC_000023.10:g.118116819A>G	VUS	1 lab	2784925982
10:101486797 COX15 A>T	10	101486797	101486797	A	T	COX15	c.510T>A	NM_078470.6	NP_510870.1:p.(Phe170Leu)	NC_000010.10:g.101486797A>T	VUS	1 lab	2786209432
17:1782660 RPA1 G>A	17	1782660	1782660	G	A	RPA1	c.911G>A	NM_002945.5	NP_002936.1:p.(Gly304Glu)	NC_000017.10:g.1782660G>A	(Likely) benign	1 lab	27876dc87c
11:73717340 UCP3 T>G	11	73717340	73717340	T	G	UCP3	c.211A>C	NM_003356.4	NP_003347.1:p.(Thr71Pro)	NC_000011.9:g.73717340T>G	VUS	1 lab	2788ef03a7
12:116457044 MED13L C>T	12	116457044	116457044	C	T	MED13L	c.994G>A	NM_015335.5	NP_056150.1:p.(Glu332Lys)	NC_000012.11:g.116457044C>T	VUS	1 lab	278a987593
2:141294285 LRP1B G>A	2	141294285	141294285	G	A	LRP1B	c.7514-7C>T	NM_018557.3	NP_061027.2:p.?	NC_000002.11:g.141294285G>A	(Likely) benign	1 lab	278bd760d5
19:7117262 INSR C>T	19	7117262	7117262	C	T	INSR	c.3954G>A	NM_000208.4	NP_000199.2:p.(Glu1318=)	NC_000019.9:g.7117262C>T	(Likely) benign	1 lab	278d55f1c4
22:50435510 IL17REL G>C	22	50435510	50435510	G	C	IL17REL	c.1258-7C>G	NM_001371417.1	NP_001358346.1:p.?	NC_000022.10:g.50435510G>C	VUS	1 lab	278f59bb24
6:149699784 TAB2 C>T	6	149699784	149699784	C	T	TAB2	c.733C>T	NM_001292034.3	NP_001278963.1:p.(Gln245Ter)	NC_000006.11:g.149699784C>T	(Likely) pathogenic	1 lab	2791c85a19
10:102746925 MRPL43 A>G	10	102746925	102746925	A	G	MRPL43	c.160T>C	NM_032112.3	NP_115488.2:p.(Phe54Leu)	NC_000010.10:g.102746925A>G	VUS	1 lab	2792e0ed95
18:21141495 NPC1 G>C	18	21141495	21141495	G	C	NPC1	c.464-4C>G	NM_000271.5	NP_000262.2:p.?	NC_000018.9:g.21141495G>C	(Likely) benign	1 lab	27941f5e99
6:129794381 LAMA2 A>G	6	129794381	129794381	A	G	LAMA2	c.7323A>G	NM_000426.4	NP_000417.3:p.(Ile2441Met)	NC_000006.11:g.129794381A>G	VUS	1 lab	279488f9f5
12:49438039 KMT2D T>C	12	49438039	49438039	T	C	KMT2D	c.5132A>G	NM_003482.4	NP_003473.3:p.(Lys1711Arg)	NC_000012.11:g.49438039T>C	VUS	1 lab	2794feb5cf
19:1047262 ABCA7 C>G	19	1047262	1047262	C	G	ABCA7	c.1952C>G	NM_019112.4	NP_061985.2:p.(Ser651Cys)	NC_000019.9:g.1047262C>G	VUS	1 lab	2797861f47
14:99641060 BCL11B C>T	14	99641060	99641060	C	T	BCL11B	c.2113G>A	NM_138576.4	NP_612808.1:p.(Glu705Lys)	NC_000014.8:g.99641060C>T	VUS	1 lab	2799316137
1:155326869 ASH1L TACAC>T	1	155326869	155326910	TACAC	T	ASH1L	c.7055+234_7055+237del	NM_018489.3	NP_060959.2:p.?	NC_000001.10:g.155326907_155326910del	(Likely) benign	1 lab	279e065f52
19:15298125 NOTCH3 C>T	19	15298125	15298125	C	T	NOTCH3	c.1631G>A	NM_000435.3	NP_000426.2:p.(Arg544His)	NC_000019.9:g.15298125C>T	VUS	1 lab	27a1e0569a
15:90168423 TICRR C>T	15	90168423	90168423	C	T	TICRR	c.4882C>T	NM_152259.4	NP_689472.3:p.(Arg1628Cys)	NC_000015.9:g.90168423C>T	VUS	1 lab	27a2a10cd7
2:129026331 HS6ST1 C>T	2	129026331	129026331	C	T	HS6ST1	c.641G>A	NM_004807.3	NP_004798.3:p.(Arg214His)	NC_000002.11:g.129026331C>T	(Likely) benign	1 lab	27a35c37fa
3:113507620 ATP6V1A A>G	3	113507620	113507620	A	G	ATP6V1A	c.777A>G	NM_001690.4	NP_001681.2:p.(Ile259Met)	NC_000003.11:g.113507620A>G	VUS	1 lab	27a3fea979
16:2164195 PKD1 G>C	16	2164195	2164195	G	C	PKD1	c.2829C>G	NM_001009944.3	NP_001009944.3:p.(Ala943=)	NC_000016.9:g.2164195G>C	(Likely) benign	1 lab	27a5546fdf
16:47531367 PHKB T>A	16	47531367	47531367	T	A	PHKB	c.134T>A	NM_000293.3	NP_000284.1:p.(Leu45His)	NC_000016.9:g.47531367T>A	VUS	1 lab	27a7e23ca3
17:7754400 KDM6B TC>T	17	7754400	7754401	TC	T	KDM6B	c.3736del	NM_001348716.2	NP_001335645.1:p.(Arg1246AlafsTer14)	NC_000017.10:g.7754401del	(Likely) pathogenic	1 lab	27a8927236
7:150923433 ABCF2 G>A	7	150923433	150923433	G	A	ABCF2	c.112C>T	NM_007189.3	NP_009120.1:p.(Gln38Ter)	NC_000007.13:g.150923433G>A	VUS	1 lab	27a8d175f8
14:58954643 KIAA0586 A>G	14	58954643	58954643	A	G	KIAA0586	c.3343A>G	NM_001329943.3	NP_001316872.1:p.(Thr1115Ala)	NC_000014.8:g.58954643A>G	(Likely) benign	1 lab	27a8d5f41a
12:22063247 ABCC9 C>A	12	22063247	22063247	C	A	ABCC9	c.1165-1G>T	NM_020297.4	NP_064693.2:p.?	NC_000012.11:g.22063247C>A	(Likely) benign	1 lab	27a9278875
22:41548287 EP300 G>C	22	41548287	41548287	G	C	EP300	c.3075G>C	NM_001429.4	NP_001420.2:p.(Glu1025Asp)	NC_000022.10:g.41548287G>C	VUS	1 lab	27a9d5cc73
19:46522874 PGLYRP1 C>T	19	46522874	46522874	C	T	PGLYRP1	c.319G>A	NM_005091.3	NP_005082.1:p.(Glu107Lys)	NC_000019.9:g.46522874C>T	VUS	1 lab	27aaf7fa2d
21:45971256 TSPEAR A>G	21	45971256	45971256	A	G	TSPEAR	c.303+16413T>C	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.45971256A>G	(Likely) benign	1 lab	27ab4c8a67
12:133241869 POLE C>T	12	133241869	133241869	C	T	POLE	c.2468+19G>A	NM_006231.4	NP_006222.2:p.?	NC_000012.11:g.133241869C>T	VUS	1 lab	27ac6cf882
12:6955947 GNB3 C>T	12	6955947	6955947	C	T	GNB3	c.917-9C>T	NM_002075.4	NP_002066.1:p.?	NC_000012.11:g.6955947C>T	(Likely) benign	1 lab	1c6b377c47
6:112430754 LAMA4 G>C	6	112430754	112430754	G	C	LAMA4	c.5358C>G	NM_001105206.3	NP_001098676.2:p.(Ser1786Arg)	NC_000006.11:g.112430754G>C	(Likely) benign	1 lab	1c6d9e1034
3:196744155 MELTF G>A	3	196744155	196744155	G	A	MELTF	c.719C>T	NM_005929.6	NP_005920.2:p.(Thr240Met)	NC_000003.11:g.196744155G>A	VUS	1 lab	27b0cc95ab
16:30992394 SETD1A A>C	16	30992394	30992394	A	C	SETD1A	c.4705A>C	NM_014712.3	NP_055527.1:p.(Lys1569Gln)	NC_000016.9:g.30992394A>C	(Likely) benign	1 lab	27b2ef6a25
1:43688496 CFAP57 C>T	1	43688496	43688496	C	T	CFAP57	c.2534C>T	NM_001378189.1	NP_001365118.1:p.(Ala845Val)	NC_000001.10:g.43688496C>T	(Likely) benign	1 lab	27b46d23e7
5:140589414 PCDHB12 T>C	5	140589414	140589414	T	C	PCDHB12	c.935T>C	NM_018932.4	NP_061755.1:p.(Ile312Thr)	NC_000005.9:g.140589414T>C	(Likely) benign	1 lab	27b5b6e543
17:73482010 TMEM94 C>T	17	73482010	73482010	C	T	TMEM94	c.203C>T	NM_014738.6	NP_055553.3:p.(Pro68Leu)	NC_000017.10:g.73482010C>T	VUS	1 lab	27b6017088
11:1478180 BRSK2 C>T	11	1478180	1478180	C	T	BRSK2	c.1939+263C>T	NM_001256627.2	NP_001243556.1:p.?	NC_000011.9:g.1478180C>T	(Likely) benign	1 lab	27b6a9c1e4
16:1569942 IFT140 G>T	16	1569942	1569942	G	T	IFT140	c.3980C>A	NM_014714.4	NP_055529.2:p.(Thr1327Asn)	NC_000016.9:g.1569942G>T	VUS	1 lab	27b6f4e507
3:183960731 ALG3 G>T	3	183960731	183960731	G	T	ALG3	c.1024C>A	NM_005787.6	NP_005778.1:p.(Leu342Ile)	NC_000003.11:g.183960731G>T	VUS	1 lab	27b80fd9a3
3:43759181 ABHD5 G>A	3	43759181	43759181	G	A	ABHD5	c.792G>A	NM_016006.6	NP_057090.2:p.(Lys264=)	NC_000003.11:g.43759181G>A	(Likely) benign	1 lab	27b9710ee0
17:43319434 FMNL1 T>TCCG	17	43319434	43319460	T	TCCG	FMNL1	c.1830_1832dup	NM_005892.4	NP_005883.3:p.(Pro612dup)	NC_000017.10:g.43319458_43319460dup	(Likely) benign	1 lab	27bc466820
8:145687857 ZFTRAF1 C>A	8	145687857	145687857	C	A	ZFTRAF1	c.181G>T	NM_001330618.2	NP_001317547.1:p.(Ala61Ser)	NC_000008.10:g.145687857C>A	(Likely) benign	1 lab	27c2cb387c
7:107808857 NRCAM C>T	7	107808857	107808857	C	T	NRCAM	c.3188-10G>A	NM_001037132.4	NP_001032209.1:p.?	NC_000007.13:g.107808857C>T	VUS	1 lab	27c40b70e6
2:197710703 PGAP1 G>A	2	197710703	197710703	G	A	PGAP1	c.2189C>T	NM_024989.4	NP_079265.2:p.(Pro730Leu)	NC_000002.11:g.197710703G>A	VUS	1 lab	27c49c3c49
2:73675776 ALMS1 A>G	2	73675776	73675776	A	G	ALMS1	c.2122A>G	NM_001378454.1	NP_001365383.1:p.(Thr708Ala)	NC_000002.11:g.73675776A>G	(Likely) benign	1 lab	27c56b1ed7
19:14166027 PALM3 G>C	19	14166027	14166027	G	C	PALM3	c.457C>G	NM_001145028.2	NP_001138500.2:p.(Leu153Val)	NC_000019.9:g.14166027G>C	VUS	1 lab	27c62b8bbe
7:105206037 EFCAB10 C>T	7	105206037	105206037	C	T	EFCAB10	c.384-143G>A	NM_001355526.2	NP_001342455.1:p.?	NC_000007.13:g.105206037C>T	VUS	1 lab	27c69ad6e0
6:146678766 GRM1 A>G	6	146678766	146678766	A	G	GRM1	c.1538A>G	NM_001278064.2	NP_001264993.1:p.(Gln513Arg)	NC_000006.11:g.146678766A>G	VUS	1 lab	27c6d06104
2:152387554 NEB G>A	2	152387554	152387554	G	A	NEB	c.21584C>T	NM_001164508.2	NP_001157980.2:p.(Thr7195Ile)	NC_000002.11:g.152387554G>A	VUS	1 lab	27c75508ac
12:52374941 ACVR1B C>T	12	52374941	52374941	C	T	ACVR1B	c.769C>T	NM_004302.5	NP_004293.1:p.(Arg257Cys)	NC_000012.11:g.52374941C>T	VUS	1 lab	27c929f590
2:198270010 SF3B1 CA>C	2	198270010	198270013	CA	C	SF3B1	c.1425del	NM_012433.4	NP_036565.2:p.(Phe475LeufsTer23)	NC_000002.11:g.198270013del	VUS	1 lab	27cf8d7988
12:69083418 NUP107 A>T	12	69083418	69083418	A	T	NUP107	c.187+19A>T	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69083418A>T	(Likely) benign	1 lab	1c6e84ddbe
18:19751811 GATA6 G>T	18	19751811	19751811	G	T	GATA6	c.706G>T	NM_005257.6	NP_005248.2:p.(Gly236Cys)	NC_000018.9:g.19751811G>T	VUS	1 lab	27d0c16f3c
X:66765122 AR C>G	X	66765122	66765122	C	G	AR	c.134C>G	NM_000044.6	NP_000035.2:p.(Ala45Gly)	NC_000023.10:g.66765122C>G	VUS	1 lab	27d1afab90
10:97447339 TCTN3 C>T	10	97447339	97447339	C	T	TCTN3	c.627+10G>A	NM_015631.6	NP_056446.4:p.?	NC_000010.10:g.97447339C>T	(Likely) benign	1 lab	27d1eab3f9
X:125299823 DCAF12L2 C>T	X	125299823	125299823	C	T	DCAF12L2	c.85G>A	NM_001013628.3	NP_001013650.1:p.(Ala29Thr)	NC_000023.10:g.125299823C>T	(Likely) benign	1 lab	27d2c04ecd
19:38945932 RYR1 GC>G	19	38945932	38945935	GC	G	RYR1	c.1501del	NM_000540.3	NP_000531.2:p.(His501ThrfsTer18)	NC_000019.9:g.38945935del	(Likely) pathogenic	1 lab	27d4e4c6bf
4:88537303 DSPP C>T	4	88537303	88537303	C	T	DSPP	c.3489C>T	NM_014208.3	NP_055023.2:p.(Ser1163=)	NC_000004.11:g.88537303C>T	(Likely) benign	1 lab	27d59e2d78
6:13014274 PHACTR1 C>G	6	13014274	13014274	C	G	PHACTR1	c.251-39323C>G	NM_030948.6	NP_112210.1:p.?	NC_000006.11:g.13014274C>G	(Likely) benign	1 lab	27d5b66cfb
18:77246770 NFATC1 C>T	18	77246770	77246770	C	T	NFATC1	c.2615C>T	NM_001278669.2	NP_001265598.1:p.(Thr872Met)	NC_000018.9:g.77246770C>T	VUS	1 lab	27d5d6c76f
2:215797383 ABCA12 G>A	2	215797383	215797383	G	A	ABCA12	c.7763C>T	NM_173076.3	NP_775099.2:p.(Ser2588Leu)	NC_000002.11:g.215797383G>A	VUS	1 lab	27d6e28538
11:10825547 EIF4G2 C>CT	11	10825547	10825548	C	CT	EIF4G2	c.600dup	NM_001418.4	NP_001409.3:p.(Ala201SerfsTer4)	NC_000011.9:g.10825548dup	VUS	1 lab	27d6ebdc4f
6:56417556 DST T>C	6	56417556	56417556	T	C	DST	c.16034A>G	NM_001374736.1	NP_001361665.1:p.(Asp5345Gly)	NC_000006.11:g.56417556T>C	VUS	1 lab	27d8526f69
1:161088000 NIT1 G>A	1	161088000	161088000	G	A	NIT1	c.2+32G>A	NM_005600.3	NP_005591.1:p.?	NC_000001.10:g.161088000G>A	(Likely) benign	1 lab	27d86bbe12
X:153195564 NAA10 C>A	X	153195564	153195564	C	A	NAA10	c.584G>T	NM_003491.4	NP_003482.1:p.(Arg195Leu)	NC_000023.10:g.153195564C>A	VUS	1 lab	27d9e5cc0d
1:7792624 CAMTA1 G>A	1	7792624	7792624	G	A	CAMTA1	c.3031G>A	NM_015215.4	NP_056030.1:p.(Gly1011Ser)	NC_000001.10:g.7792624G>A	VUS	1 lab	27dc94160c
14:77493872 IRF2BPL CGCT>C	14	77493872	77493875	CGCT	C	IRF2BPL	c.261_263del	NM_024496.4	NP_078772.1:p.(Ala102del)	NC_000014.8:g.77493873_77493875del	VUS	1 lab	27dd02d86e
11:102826185 MMP13 G>A	11	102826185	102826185	G	A	MMP13	c.158C>T	NM_002427.4	NP_002418.1:p.(Ala53Val)	NC_000011.9:g.102826185G>A	VUS	1 lab	27dd853b8a
3:49759369 GMPPB T>TGCCC	3	49759369	49759370	T	TGCCC	GMPPB	c.951+28_951+29insGGGC	NM_021971.4	NP_068806.2:p.?	NC_000003.11:g.49759369_49759370insGCCC	(Likely) benign	1 lab	27dfd5d78e
1:36932474 CSF3R C>T	1	36932474	36932474	C	T	CSF3R	c.2041-46G>A	NM_000760.4	NP_000751.1:p.?	NC_000001.10:g.36932474C>T	(Likely) benign	1 lab	27e1625c6c
19:45912218 ERCC1 A>G	19	45912218	45912218	A	G	ERCC1	c.*715T>C	NM_001983.4	NP_001974.1:p.?	NC_000019.9:g.45912218A>G	(Likely) benign	1 lab	27e1cb1b71
12:133313534 ANKLE2 G>T	12	133313534	133313534	G	T	ANKLE2	c.1538C>A	NM_015114.3	NP_055929.1:p.(Pro513His)	NC_000012.11:g.133313534G>T	VUS	1 lab	27e27a3500
7:151846134 KMT2C G>A	7	151846134	151846134	G	A	KMT2C	c.12878C>T	NM_170606.3	NP_733751.2:p.(Pro4293Leu)	NC_000007.13:g.151846134G>A	VUS	1 lab	27e291a9c8
17:40354786 STAT5B T>C	17	40354786	40354786	T	C	STAT5B	c.2118A>G	NM_012448.4	NP_036580.2:p.(Gln706=)	NC_000017.10:g.40354786T>C	(Likely) benign	1 lab	27e2b240d8
X:129484670 SLC25A14 T>C	X	129484670	129484670	T	C	SLC25A14	c.463T>C	NM_001282195.2	NP_001269124.1:p.(Ser155Pro)	NC_000023.10:g.129484670T>C	VUS	1 lab	27e3359062
X:24382416 SUPT20HL1 TG>T	X	24382416	24382417	TG	T	SUPT20HL1	c.1540del	NM_001136234.3	NP_001129706.3:p.(Ala514LeufsTer9)	NC_000023.10:g.24382417del	(Likely) benign	1 lab	27e3369e40
X:25033686 ARX G>C	X	25033686	25033686	G	C	ARX	c.169C>G	NM_139058.3	NP_620689.1:p.(Arg57Gly)	NC_000023.10:g.25033686G>C	VUS	1 lab	27e490b113
12:6707210 CHD4 T>C	12	6707210	6707210	T	C	CHD4	c.1742A>G	NM_001273.5	NP_001264.2:p.(Asp581Gly)	NC_000012.11:g.6707210T>C	VUS	1 lab	27e4df111e
1:97270347 PTBP2 C>T	1	97270347	97270347	C	T	PTBP2	c.905-9C>T	NM_021190.4	NP_067013.1:p.?	NC_000001.10:g.97270347C>T	VUS	1 lab	27e50464b6
15:90320250 MESP2 G>T	15	90320250	90320250	G	T	MESP2	c.662G>T	NM_001039958.2	NP_001035047.1:p.(Gly221Val)	NC_000015.9:g.90320250G>T	VUS	1 lab	27e749deac
11:17450232 ABCC8 C>G	11	17450232	17450232	C	G	ABCC8	c.1818-15G>C	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17450232C>G	(Likely) benign	1 lab	27e8efc23a
10:95262894 CEP55 AAGG>A	10	95262894	95262899	AAGG	A	CEP55	c.211_213del	NM_018131.5	NP_060601.4:p.(Glu71del)	NC_000010.10:g.95262897_95262899del	VUS	1 lab	27e97520cd
12:57586753 LRP1 G>A	12	57586753	57586753	G	A	LRP1	c.7555G>A	NM_002332.3	NP_002323.2:p.(Ala2519Thr)	NC_000012.11:g.57586753G>A	VUS	1 lab	27ebe6d49f
X:47044447 RBM10 C>T	X	47044447	47044447	C	T	RBM10	c.1951-7C>T	NM_005676.5	NP_005667.2:p.?	NC_000023.10:g.47044447C>T	(Likely) benign	1 lab	27ef9b8fa5
4:6302917 WFS1 C>T	4	6302917	6302917	C	T	WFS1	c.1395C>T	NM_006005.3	NP_005996.2:p.(Ala465=)	NC_000004.11:g.6302917C>T	(Likely) benign	1 lab	27f1baf1d0
18:5891435 TMEM200C C>T	18	5891435	5891435	C	T	TMEM200C	c.628G>A	NM_001395400.1	NP_001382329.1:p.(Val210Met)	NC_000018.9:g.5891435C>T	(Likely) benign	1 lab	27f28b3037
13:23929373 SACS G>A	13	23929373	23929373	G	A	SACS	c.1378C>T	NM_014363.6	NP_055178.3:p.(Leu460Phe)	NC_000013.10:g.23929373G>A	VUS	1 lab	27f2c668f1
14:74995221 LTBP2 T>C	14	74995221	74995221	T	C	LTBP2	c.2333A>G	NM_000428.3	NP_000419.1:p.(Asp778Gly)	NC_000014.8:g.74995221T>C	(Likely) benign	1 lab	27f2ee757e
X:131762541 HS6ST2 C>A	X	131762541	131762541	C	A	HS6ST2	c.1648G>T	NM_001077188.2	NP_001070656.1:p.(Ala550Ser)	NC_000023.10:g.131762541C>A	(Likely) benign	1 lab	1c22bc2d84
22:19748451 TBX1 A>G	22	19748451	19748451	A	G	TBX1	c.85A>G	NM_001379200.1	NP_001366129.1:p.(Ser29Gly)	NC_000022.10:g.19748451A>G	VUS	1 lab	27f3b65611
15:75981424 CSPG4 G>A	15	75981424	75981424	G	A	CSPG4	c.1982C>T	NM_001897.5	NP_001888.2:p.(Pro661Leu)	NC_000015.9:g.75981424G>A	VUS	1 lab	27f49a5c03
1:226034839 TMEM63A T>TCTGCTGCTGCTG	1	226034839	226034858	T	TCTGCTGCTGCTG	TMEM63A	c.2314_2325dup	NM_014698.3	NP_055513.2:p.(Gln772_Gln775dup)	NC_000001.10:g.226034847_226034858dup	VUS	1 lab	27f5785d17
X:70280959 SNX12 C>T	X	70280959	70280959	C	T	SNX12	c.396G>A	NM_013346.4	NP_037478.2:p.(Gly132=)	NC_000023.10:g.70280959C>T	(Likely) benign	1 lab	27f730b297
7:89856708 STEAP2 G>A	7	89856708	89856708	G	A	STEAP2	c.916G>A	NM_001244944.2	NP_001231873.1:p.(Gly306Arg)	NC_000007.13:g.89856708G>A	VUS	1 lab	27f771136a
4:155487793 FGB C>G	4	155487793	155487793	C	G	FGB	c.459C>G	NM_005141.5	NP_005132.2:p.(Asp153Glu)	NC_000004.11:g.155487793C>G	VUS	1 lab	27fa1dd037
17:17707127 RAI1 C>T	17	17707127	17707127	C	T	RAI1	c.5623C>T	NM_030665.4	NP_109590.3:p.(Leu1875Phe)	NC_000017.10:g.17707127C>T	VUS	1 lab	27fa5e429f
10:95276988 CEP55 GA>G	10	95276988	95276990	GA	G	CEP55	c.978del	NM_018131.5	NP_060601.4:p.(Glu327SerfsTer14)	NC_000010.10:g.95276990del	(Likely) pathogenic	1 lab	27fba959a3
2:179433982 TTN A>G	2	179433982	179433982	A	G	TTN	c.76877T>C	NM_001267550.2	NP_001254479.2:p.(Leu25626Ser)	NC_000002.11:g.179433982A>G	(Likely) benign	1 lab	27fc3056bc
17:48245361 SGCA G>C	17	48245361	48245361	G	C	SGCA	c.366G>C	NM_000023.4	NP_000014.1:p.(Leu122=)	NC_000017.10:g.48245361G>C	(Likely) benign	1 lab	280d31c8ac
9:14792790 FREM1 ATCT>A	9	14792790	14792796	ATCT	A	FREM1	c.3929_3931del	NM_001379081.2	NP_001366010.1:p.(Lys1310del)	NC_000009.11:g.14792794_14792796del	VUS	1 lab	27fcc950c7
1:22149985 LDLRAD2 C>T	1	22149985	22149985	C	T	LDLRAD2	c.*1277C>T	NM_001013693.3	NP_001013715.2:p.?	NC_000001.10:g.22149985C>T	(Likely) benign	1 lab	27fd9f2374
9:130423390 STXBP1 A>G	9	130423390	130423390	A	G	STXBP1	c.335A>G	NM_001032221.6	NP_001027392.1:p.(Asp112Gly)	NC_000009.11:g.130423390A>G	VUS	1 lab	27feeba355
10:116930943 ATRNL1 A>G	10	116930943	116930943	A	G	ATRNL1	c.1241A>G	NM_207303.4	NP_997186.1:p.(His414Arg)	NC_000010.10:g.116930943A>G	VUS	1 lab	27fef2465b
11:125488263 STT3A C>T	11	125488263	125488263	C	T	STT3A	c.1775-5C>T	NM_152713.5	NP_689926.1:p.?	NC_000011.9:g.125488263C>T	(Likely) benign	1 lab	28003a22e9
14:101347278 RTL1 A>G	14	101347278	101347278	A	G	RTL1	c.3848T>C	NM_001134888.3	NP_001128360.1:p.(Leu1283Pro)	NC_000014.8:g.101347278A>G	VUS	1 lab	2800be04aa
5:44388630 FGF10 G>C	5	44388630	44388630	G	C	FGF10	c.155C>G	NM_004465.2	NP_004456.1:p.(Ser52Cys)	NC_000005.9:g.44388630G>C	VUS	1 lab	2801bc8a99
1:244218216 ZBTB18 G>A	1	244218216	244218216	G	A	ZBTB18	c.1140G>A	NM_205768.3	NP_991331.1:p.(Met380Ile)	NC_000001.10:g.244218216G>A	VUS	1 lab	2802db1560
1:243663098 AKT3 A>C	1	243663098	243663098	A	C	AKT3	c.*5453T>G	NM_005465.7	NP_005456.1:p.?	NC_000001.10:g.243663098A>C	(Likely) benign	1 lab	2803e8b341
22:42608421 TCF20 T>C	22	42608421	42608421	T	C	TCF20	c.2891A>G	NM_001378418.1	NP_001365347.1:p.(Asn964Ser)	NC_000022.10:g.42608421T>C	VUS	1 lab	280502d5cb
1:225599112 LBR C>T	1	225599112	225599112	C	T	LBR	c.1115G>A	NM_002296.4	NP_002287.2:p.(Arg372His)	NC_000001.10:g.225599112C>T	VUS	1 lab	280580a6c3
16:3830776 CREBBP C>T	16	3830776	3830776	C	T	CREBBP	c.1780G>A	NM_004380.3	NP_004371.2:p.(Glu594Lys)	NC_000016.9:g.3830776C>T	VUS	1 lab	2808fbbe54
4:46390858 GABRA2 C>A	4	46390858	46390858	C	A	GABRA2	c.-10-125G>T	NM_000807.4	NP_000798.2:p.?	NC_000004.11:g.46390858C>A	(Likely) benign	1 lab	280ac152a5
1:63113973 DOCK7 C>T	1	63113973	63113973	C	T	DOCK7	c.536G>A	NM_001367561.1	NP_001354490.1:p.(Arg179His)	NC_000001.10:g.63113973C>T	VUS	1 lab	280b5f8b9a
2:189872269 COL3A1 G>A	2	189872269	189872269	G	A	COL3A1	c.3299G>A	NM_000090.4	NP_000081.2:p.(Arg1100His)	NC_000002.11:g.189872269G>A	VUS	1 lab	280b9cc3c1
8:101717819 PABPC1 A>G	8	101717819	101717819	A	G	PABPC1	c.1685T>C	NM_002568.4	NP_002559.2:p.(Leu562Ser)	NC_000008.10:g.101717819A>G	VUS	1 lab	280cfbabff
3:47162189 SETD2 G>A	3	47162189	47162189	G	A	SETD2	c.3937C>T	NM_014159.7	NP_054878.5:p.(Pro1313Ser)	NC_000003.11:g.47162189G>A	(Likely) benign	1 lab	280d718c5c
6:41119109 TREML1 CTCT>C	6	41119109	41119120	CTCT	C	TREML1	c.387_389del	NM_178174.4	NP_835468.1:p.(Glu130del)	NC_000006.11:g.41119118_41119120del	VUS	1 lab	280e187de8
4:46099223 GABRG1 A>G	4	46099223	46099223	A	G	GABRG1	c.248T>C	NM_173536.4	NP_775807.2:p.(Ile83Thr)	NC_000004.11:g.46099223A>G	VUS	1 lab	280e365238
X:107319395 VSIG1 T>TAAGGCA	X	107319395	107319403	T	TAAGGCA	VSIG1	c.780_785dup	NM_182607.5	NP_872413.1:p.(Ala265_Lys266dup)	NC_000023.10:g.107319398_107319403dup	(Likely) benign	1 lab	280ef7326d
X:37431310 LANCL3 G>T	X	37431310	37431310	G	T	LANCL3	c.187G>T	NM_001170331.2	NP_001163802.1:p.(Gly63Trp)	NC_000023.10:g.37431310G>T	VUS	1 lab	280f068197
15:90211033 PLIN1 G>C	15	90211033	90211033	G	C	PLIN1	c.772-9C>G	NM_002666.5	NP_002657.3:p.?	NC_000015.9:g.90211033G>C	(Likely) benign	1 lab	281097ee5a
4:8224684 SH3TC1 C>T	4	8224684	8224684	C	T	SH3TC1	c.1230C>T	NM_018986.5	NP_061859.4:p.(Ser410=)	NC_000004.11:g.8224684C>T	VUS	1 lab	2811453ee5
5:127420337 SLC12A2 G>A	5	127420337	127420337	G	A	SLC12A2	c.691G>A	NM_001046.3	NP_001037.1:p.(Ala231Thr)	NC_000005.9:g.127420337G>A	VUS	1 lab	2812abef3c
15:42703217 CAPN3 C>T	15	42703217	42703217	C	T	CAPN3	c.2380+19C>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42703217C>T	(Likely) benign	1 lab	2813ee57b4
15:48707785 FBN1 C>T	15	48707785	48707785	C	T	FBN1	c.7999G>A	NM_000138.5	NP_000129.3:p.(Glu2667Lys)	NC_000015.9:g.48707785C>T	VUS	1 lab	281502fd15
7:107615466 LAMB1 G>A	7	107615466	107615466	G	A	LAMB1	c.1447C>T	NM_002291.3	NP_002282.2:p.(Arg483Cys)	NC_000007.13:g.107615466G>A	VUS	1 lab	281562385a
1:223178725 DISP1 TCACG>T	1	223178725	223178732	TCACG	T	DISP1	c.3990_3993del	NM_001377229.1	NP_001364158.1:p.(His1331SerfsTer11)	NC_000001.10:g.223178729_223178732del	VUS	1 lab	2815a3b7f6
3:69236999 FRMD4B G>T	3	69236999	69236999	G	T	FRMD4B	c.1841C>A	NM_015123.3	NP_055938.2:p.(Pro614His)	NC_000003.11:g.69236999G>T	VUS	1 lab	2817f24607
10:79741998 POLR3A G>A	10	79741998	79741998	G	A	POLR3A	c.3673C>T	NM_007055.4	NP_008986.2:p.(Leu1225Phe)	NC_000010.10:g.79741998G>A	VUS	1 lab	28185499d7
14:29236985 FOXG1 AG>A	14	29236985	29236991	AG	A	FOXG1	c.506del	NM_005249.5	NP_005240.3:p.(Gly169AlafsTer23)	NC_000014.8:g.29236991del	(Likely) pathogenic	1 lab	1c26f6c7ea
18:2705676 SMCHD1 A>T	18	2705676	2705676	A	T	SMCHD1	c.1843-16A>T	NM_015295.3	NP_056110.2:p.?	NC_000018.9:g.2705676A>T	(Likely) benign	1 lab	281949f632
21:46876759 COL18A1 G>T	21	46876759	46876759	G	T	COL18A1	c.107-11397G>T	NM_001379500.1	NP_001366429.1:p.?	NC_000021.8:g.46876759G>T	(Likely) benign	1 lab	281ab79c10
12:49431033 KMT2D G>T	12	49431033	49431033	G	T	KMT2D	c.10106C>A	NM_003482.4	NP_003473.3:p.(Pro3369His)	NC_000012.11:g.49431033G>T	VUS	1 lab	281b2e6799
12:111785370 CUX2 T>G	12	111785370	111785370	T	G	CUX2	c.3702T>G	NM_015267.4	NP_056082.2:p.(Asp1234Glu)	NC_000012.11:g.111785370T>G	VUS	1 lab	281bee876f
7:95402093 DYNC1I1 G>A	7	95402093	95402093	G	A	DYNC1I1	c.-10+8G>A	NM_001135556.2	NP_001129028.1:p.?	NC_000007.13:g.95402093G>A	(Likely) benign	1 lab	281c00e657
5:55243327 IL6ST C>T	5	55243327	55243327	C	T	IL6ST	c.1931G>A	NM_002184.4	NP_002175.2:p.(Arg644Gln)	NC_000005.9:g.55243327C>T	(Likely) benign	1 lab	281c41fccf
12:49375065 WNT1 G>C	12	49375065	49375065	G	C	WNT1	c.755G>C	NM_005430.4	NP_005421.1:p.(Gly252Ala)	NC_000012.11:g.49375065G>C	VUS	1 lab	281d4add66
9:33796686 PRSS3 C>A	9	33796686	33796686	C	A	PRSS3	c.86C>A	NM_002771.4	NP_002762.3:p.(Thr29Asn)	NC_000009.11:g.33796686C>A	(Likely) benign	1 lab	281d711e2a
X:48768787 SLC35A2 C>T	X	48768787	48768787	C	T	SLC35A2	c.91+36G>A	NM_005660.3	NP_005651.1:p.?	NC_000023.10:g.48768787C>T	VUS	1 lab	281d761767
1:225147934 DNAH14 G>T	1	225147934	225147934	G	T	DNAH14	c.297G>T	NM_001367479.1	NP_001354408.1:p.(Arg99Ser)	NC_000001.10:g.225147934G>T	VUS	1 lab	281e11ad6e
13:32911192 BRCA2 TC>T	13	32911192	32911193	TC	T	BRCA2	c.2701del	NM_000059.4	NP_000050.3:p.(Ala902LeufsTer2)	NC_000013.10:g.32911193del	(Likely) pathogenic	1 lab	281f3445a3
10:124600798 CUZD1 C>A	10	124600798	124600798	C	A	CUZD1	c.129G>T	NM_022034.6	NP_071317.2:p.(Glu43Asp)	NC_000010.10:g.124600798C>A	VUS	1 lab	281f4f9135
8:145739385 RECQL4 G>A	8	145739385	145739385	G	A	RECQL4	c.1985C>T	NM_004260.4	NP_004251.4:p.(Pro662Leu)	NC_000008.10:g.145739385G>A	(Likely) benign	1 lab	281fa0ba33
1:16461601 EPHA2 C>A	1	16461601	16461601	C	A	EPHA2	c.1512G>T	NM_004431.5	NP_004422.2:p.(Leu504=)	NC_000001.10:g.16461601C>A	(Likely) benign	1 lab	281fed996e
16:68732214 CDH3 G>A	16	68732214	68732214	G	A	CDH3	c.2401G>A	NM_001793.6	NP_001784.2:p.(Asp801Asn)	NC_000016.9:g.68732214G>A	VUS	1 lab	28213afeaa
3:121413515 GOLGB1 G>C	3	121413515	121413515	G	C	GOLGB1	c.5855C>G	NM_001366282.2	NP_001353211.1:p.(Ala1952Gly)	NC_000003.11:g.121413515G>C	(Likely) benign	1 lab	2821bb8048
9:135150636 SETX G>A	9	135150636	135150636	G	A	SETX	c.7100+7C>T	NM_015046.7	NP_055861.3:p.?	NC_000009.11:g.135150636G>A	(Likely) benign	1 lab	2821f407c6
5:13891080 DNAH5 A>T	5	13891080	13891080	A	T	DNAH5	c.2577+5T>A	NM_001369.3	NP_001360.1:p.?	NC_000005.9:g.13891080A>T	(Likely) benign	1 lab	282235d0f3
14:51194463 NIN G>C	14	51194463	51194463	G	C	NIN	c.6079-1679C>G	NM_020921.4	NP_065972.4:p.?	NC_000014.8:g.51194463G>C	(Likely) benign	1 lab	282238e45f
12:121426734 HNF1A C>T	12	121426734	121426734	C	T	HNF1A	c.425C>T	NM_000545.8	NP_000536.6:p.(Ser142Phe)	NC_000012.11:g.121426734C>T	(Likely) pathogenic	1 lab	2822c90af1
1:181702838 CACNA1E G>A	1	181702838	181702838	G	A	CACNA1E	c.3214G>A	NM_001205293.3	NP_001192222.1:p.(Val1072Ile)	NC_000001.10:g.181702838G>A	VUS	1 lab	2822ce3f5a
3:11067547 SLC6A1 A>G	3	11067547	11067547	A	G	SLC6A1	c.938A>G	NM_003042.4	NP_003033.3:p.(His313Arg)	NC_000003.11:g.11067547A>G	VUS	1 lab	2822e3f6db
9:138634725 KCNT1 CT>C	9	138634725	138634727	CT	C	KCNT1	c.255-7217del	NM_020822.3	NP_065873.2:p.?	NC_000009.11:g.138634727del	(Likely) benign	1 lab	1c72c040aa
5:60628157 ZSWIM6 GGCGGCGGCGGCGGCGGGGGCAGCA>G	5	60628157	60628197	GGCGGCGGCGGCGGCGGGGGCAGCA	G	ZSWIM6	c.75_98del	NM_020928.2	NP_065979.1:p.(Gly26_Gly33del)	NC_000005.9:g.60628174_60628197del	VUS	1 lab	2823a76f33
16:1842454 IGFALS G>A	16	1842454	1842454	G	A	IGFALS	c.17-52C>T	NM_004970.3	NP_004961.1:p.?	NC_000016.9:g.1842454G>A	(Likely) benign	1 lab	28242c5ef9
12:52913526 KRT5 C>T	12	52913526	52913526	C	T	KRT5	c.555G>A	NM_000424.4	NP_000415.2:p.(Lys185=)	NC_000012.11:g.52913526C>T	VUS	1 lab	2a6a60f46e
10:131640376 EBF3 A>G	10	131640376	131640376	A	G	EBF3	c.1372+4T>C	NM_001375380.1	NP_001362309.1:p.?	NC_000010.10:g.131640376A>G	(Likely) benign	1 lab	282442ac93
5:154173717 LARP1 C>T	5	154173717	154173717	C	T	LARP1	c.1127C>T	NM_033551.3	NP_291029.2:p.(Thr376Met)	NC_000005.9:g.154173717C>T	(Likely) benign	1 lab	2824bdd9a5
16:2160927 PKD1 C>T	16	2160927	2160927	C	T	PKD1	c.4241G>A	NM_001009944.2	NP_001009944.2:p.(Trp1414Ter)	NC_000016.9:g.2160927C>T	(Likely) pathogenic	1 lab	1c76f2f893
16:2141784 PKD1 GTTGT>G	16	2141784	2141788	GTTGT	G	PKD1	c.11531_11534del	NM_001009944.3	NP_001009944.3:p.(Asp3844AlafsTer100)	NC_000016.9:g.2141785_2141788del	(Likely) pathogenic	1 lab	28276528ec
15:89395245 ACAN G>A	15	89395245	89395245	G	A	ACAN	c.2247G>A	NM_001369268.1	NP_001356197.1:p.(Val749=)	NC_000015.9:g.89395245G>A	(Likely) benign	1 lab	2827e6ecec
1:152278834 FLG TTAC>T	1	152278834	152278837	TTAC	T	FLG	c.8525_8527del	NM_002016.2	NP_002007.1:p.(Arg2842_Asn2843delinsHis)	NC_000001.10:g.152278835_152278837del	(Likely) benign	1 lab	282814e48b
8:144996987 PLEC G>A	8	144996987	144996987	G	A	PLEC	c.7110C>T	NM_201384.3	NP_958786.1:p.(Ala2370=)	NC_000008.10:g.144996987G>A	(Likely) benign	1 lab	28282a8622
1:165712549 TMCO1 C>A	1	165712549	165712549	C	A	TMCO1	c.324-1G>T	NM_019026.6	NP_061899.3:p.?	NC_000001.10:g.165712549C>A	VUS	1 lab	282a3baa96
9:131088128 COQ4 G>A	9	131088128	131088128	G	A	COQ4	c.370G>A	NM_016035.5	NP_057119.3:p.(Gly124Ser)	NC_000009.11:g.131088128G>A	(Likely) pathogenic	1 lab	282b49720e
16:4384839 GLIS2 G>C	16	4384839	4384839	G	C	GLIS2	c.383G>C	NM_032575.3	NP_115964.2:p.(Ser128Thr)	NC_000016.9:g.4384839G>C	VUS	1 lab	282c7b93fc
2:54886356 SPTBN1 C>T	2	54886356	54886356	C	T	SPTBN1	c.6309C>T	NM_003128.3	NP_003119.2:p.(Pro2103=)	NC_000002.11:g.54886356C>T	(Likely) benign	1 lab	1c27eae834
16:71096077 HYDIN G>C	16	71096077	71096077	G	C	HYDIN	c.2371C>G	NM_001270974.2	NP_001257903.1:p.(Pro791Ala)	NC_000016.9:g.71096077G>C	VUS	1 lab	282e7eebdf
19:44251584 SMG9 C>T	19	44251584	44251584	C	T	SMG9	c.588+10G>A	NM_019108.4	NP_061981.2:p.?	NC_000019.9:g.44251584C>T	(Likely) benign	1 lab	282f4028be
18:67836126 RTTN A>G	18	67836126	67836126	A	G	RTTN	c.1654T>C	NM_173630.4	NP_775901.3:p.(Cys552Arg)	NC_000018.9:g.67836126A>G	VUS	1 lab	2830863b09
20:25462729 NINL T>C	20	25462729	25462729	T	C	NINL	c.1685A>G	NM_025176.6	NP_079452.3:p.(Gln562Arg)	NC_000020.10:g.25462729T>C	VUS	1 lab	28309bfb13
20:3218710 SLC4A11 T>C	20	3218710	3218710	T	C	SLC4A11	c.44-476A>G	NM_001174089.2	NP_001167560.1:p.?	NC_000020.10:g.3218710T>C	VUS	1 lab	2ab55ee5ae
16:2158996 PKD1 G>A	16	2158996	2158996	G	A	PKD1	c.6172C>T	NM_001009944.3	NP_001009944.3:p.(Gln2058Ter)	NC_000016.9:g.2158996G>A	(Likely) pathogenic	1 lab	2830b02520
7:31018800 GHRHR C>T	7	31018800	31018800	C	T	GHRHR	c.1213C>T	NM_000823.4	NP_000814.2:p.(Arg405Cys)	NC_000007.13:g.31018800C>T	(Likely) benign	1 lab	2832bbc059
X:117959304 ZCCHC12 C>A	X	117959304	117959304	C	A	ZCCHC12	c.97C>A	NM_173798.4	NP_776159.1:p.(Leu33Ile)	NC_000023.10:g.117959304C>A	(Likely) benign	1 lab	2832d4ebc3
20:16712841 SNRPB2 C>T	20	16712841	16712841	C	T	SNRPB2	c.97C>T	NM_003092.5	NP_003083.1:p.(Gln33Ter)	NC_000020.10:g.16712841C>T	VUS	1 lab	28337ee339
20:62038159 KCNQ2 G>T	20	62038159	62038159	G	T	KCNQ2	c.2457C>A	NM_172107.4	NP_742105.1:p.(Ser819Arg)	NC_000020.10:g.62038159G>T	VUS	1 lab	1c2cfe1cf4
9:140605794 EHMT1 G>A	9	140605794	140605794	G	A	EHMT1	c.85+312G>A	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140605794G>A	(Likely) benign	1 lab	28346f4085
1:22165341 HSPG2 G>T	1	22165341	22165341	G	T	HSPG2	c.10127C>A	NM_005529.7	NP_005520.4:p.(Ala3376Asp)	NC_000001.10:g.22165341G>T	VUS	1 lab	2834b0c6e3
11:68115518 LRP5 G>A	11	68115518	68115518	G	A	LRP5	c.295G>A	NM_002335.4	NP_002326.2:p.(Val99Met)	NC_000011.9:g.68115518G>A	VUS	1 lab	28350be1f8
X:17710268 NHS A>T	X	17710268	17710268	A	T	NHS	c.719-187A>T	NM_001291867.2	NP_001278796.1:p.?	NC_000023.10:g.17710268A>T	(Likely) benign	1 lab	2837cad0e1
17:78064076 CCDC40 GAAC>G	17	78064076	78064083	GAAC	G	CCDC40	c.2832+398_2832+400del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064081_78064083del	(Likely) benign	1 lab	2837fdf861
8:145738272 RECQL4 G>T	8	145738272	145738272	G	T	RECQL4	c.2713C>A	NM_004260.4	NP_004251.4:p.(Pro905Thr)	NC_000008.10:g.145738272G>T	VUS	1 lab	2838104843
20:9318160 PLCB4 G>C	20	9318160	9318160	G	C	PLCB4	c.165+307G>C	NM_001377142.1	NP_001364071.1:p.?	NC_000020.10:g.9318160G>C	(Likely) benign	1 lab	283c219fec
6:43019994 CUL7 C>A	6	43019994	43019994	C	A	CUL7	c.533G>T	NM_014780.5	NP_055595.2:p.(Arg178Leu)	NC_000006.11:g.43019994C>A	(Likely) benign	1 lab	283f13116a
20:31620843 BPIFB6 G>T	20	31620843	31620843	G	T	BPIFB6	c.151G>T	NM_174897.2	NP_777557.1:p.(Ala51Ser)	NC_000020.10:g.31620843G>T	VUS	1 lab	283f17c141
18:6949169 LAMA1 C>A	18	6949169	6949169	C	A	LAMA1	c.8487G>T	NM_005559.4	NP_005550.2:p.(Met2829Ile)	NC_000018.9:g.6949169C>A	(Likely) benign	1 lab	284015ce44
X:99924126 SRPX2 T>C	X	99924126	99924126	T	C	SRPX2	c.1096-119T>C	NM_014467.2	NP_055282.1:p.?	NC_000023.10:g.99924126T>C	(Likely) benign	1 lab	1c7c0f5a96
12:57922164 MBD6 G>C	12	57922164	57922164	G	C	MBD6	c.2641G>C	NM_052897.4	NP_443129.3:p.(Gly881Arg)	NC_000012.11:g.57922164G>C	(Likely) benign	1 lab	2841e8affd
1:155736470 GON4L G>A	1	155736470	155736470	G	A	GON4L	c.2794C>T	NM_001282860.2	NP_001269789.1:p.(Arg932Trp)	NC_000001.10:g.155736470G>A	VUS	1 lab	2842f389f7
22:17600904 TMEM121B C>A	22	17600904	17600904	C	A	TMEM121B	c.1114G>T	NM_031890.4	NP_114096.1:p.(Glu372Ter)	NC_000022.10:g.17600904C>A	VUS	1 lab	28439e5f45
17:60600519 TLK2 A>G	17	60600519	60600519	A	G	TLK2	c.248A>G	NM_006852.6	NP_006843.2:p.(Lys83Arg)	NC_000017.10:g.60600519A>G	VUS	1 lab	284430a958
12:106820980 POLR3B A>T	12	106820980	106820980	A	T	POLR3B	c.1107A>T	NM_018082.6	NP_060552.4:p.(Leu369Phe)	NC_000012.11:g.106820980A>T	(Likely) benign	1 lab	2845070e01
X:27765072 DCAF8L2 C>A	X	27765072	27765072	C	A	DCAF8L2	c.60C>A	NM_001353450.2	NP_001340379.1:p.(Phe20Leu)	NC_000023.10:g.27765072C>A	VUS	1 lab	28452b5172
19:35251141 ZNF599 CTT>C	19	35251141	35251145	CTT	C	ZNF599	c.563_564del	NM_001007248.3	NP_001007249.1:p.(Lys188ArgfsTer5)	NC_000019.9:g.35251144_35251145del	(Likely) benign	1 lab	2845e3f811
7:103185633 RELN T>C	7	103185633	103185633	T	C	RELN	c.6461A>G	NM_005045.4	NP_005036.2:p.(Tyr2154Cys)	NC_000007.13:g.103185633T>C	VUS	1 lab	28485f77ec
21:38379115 RIPPLY3 C>T	21	38379115	38379115	C	T	RIPPLY3	c.43C>T	NM_018962.3	NP_061835.1:p.(Arg15Cys)	NC_000021.8:g.38379115C>T	VUS	1 lab	284a27fe1d
10:103310574 BTRC C>A	10	103310574	103310574	C	A	BTRC	c.1775C>A	NM_033637.4	NP_378663.1:p.(Pro592His)	NC_000010.10:g.103310574C>A	(Likely) benign	1 lab	284b8282c6
16:2149705 PKD1 G>T	16	2149705	2149705	G	T	PKD1	c.9990C>A	NM_001009944.3	NP_001009944.3:p.(Ser3330Arg)	NC_000016.9:g.2149705G>T	VUS	1 lab	284bf92dda
1:43773250 TIE1 C>T	1	43773250	43773250	C	T	TIE1	c.913+7C>T	NM_005424.5	NP_005415.1:p.?	NC_000001.10:g.43773250C>T	(Likely) benign	1 lab	284f267b6e
6:45480000 RUNX2 T>C	6	45480000	45480000	T	C	RUNX2	c.877T>C	NM_001024630.4	NP_001019801.3:p.(Ser293Pro)	NC_000006.11:g.45480000T>C	VUS	1 lab	285385656b
17:48271802 COL1A1 C>T	17	48271802	48271802	C	T	COL1A1	c.1522G>A	NM_000088.4	NP_000079.2:p.(Ala508Thr)	NC_000017.10:g.48271802C>T	VUS	1 lab	2858a69ccc
21:44483184 CBS A>ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAG	21	44483184	44483218	A	ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAG	CBS	c.832_833insCTGGGGTGGATCACCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	NM_000071.3	NP_000062.1:p.(Ile278ThrfsTer16)	NC_000021.8:g.44483217_44483218insCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG	(Likely) benign	1 lab	28595ecab5
5:156741035 CYFIP2 C>T	5	156741035	156741035	C	T	CYFIP2	c.1111-317C>T	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156741035C>T	(Likely) benign	1 lab	285980f42e
1:45974607 MMACHC T>C	1	45974607	45974607	T	C	MMACHC	c.569T>C	NM_015506.3	NP_056321.2:p.(Ile190Thr)	NC_000001.10:g.45974607T>C	VUS	1 lab	285cd38e8d
X:79999707 BRWD3 G>A	X	79999707	79999707	G	A	BRWD3	c.637C>T	NM_153252.5	NP_694984.5:p.(Arg213Cys)	NC_000023.10:g.79999707G>A	VUS	1 lab	285ce4c323
1:53372199 ECHDC2 C>A	1	53372199	53372199	C	A	ECHDC2	c.449G>T	NM_001198961.2	NP_001185890.1:p.(Arg150Leu)	NC_000001.10:g.53372199C>A	VUS	1 lab	285e294bb6
1:21902232 ALPL G>A	1	21902232	21902232	G	A	ALPL	c.1004G>A	NM_000478.6	NP_000469.3:p.(Arg335Lys)	NC_000001.10:g.21902232G>A	(Likely) benign	1 lab	285e8f32fd
6:56485243 DST G>A	6	56485243	56485243	G	A	DST	c.4929+4085C>T	NM_001374736.1	NP_001361665.1:p.?	NC_000006.11:g.56485243G>A	(Likely) benign	1 lab	285f06b002
X:100912094 ARMCX2 G>GAGCCCCTGCCATTGCAGGGGCTTCTGC	X	100912094	100912127	G	GAGCCCCTGCCATTGCAGGGGCTTCTGC	ARMCX2	c.454_480dup	NM_177949.4	NP_808818.1:p.(Ala152_Ala160dup)	NC_000023.10:g.100912101_100912127dup	(Likely) benign	1 lab	28625d530a
3:191074873 CCDC50 C>G	3	191074873	191074873	C	G	CCDC50	c.50-4C>G	NM_178335.3	NP_848018.1:p.?	NC_000003.11:g.191074873C>G	(Likely) benign	1 lab	1c2fb160ab
7:156743184 NOM1 A>C	7	156743184	156743184	A	C	NOM1	c.753A>C	NM_138400.2	NP_612409.1:p.(Leu251Phe)	NC_000007.13:g.156743184A>C	VUS	1 lab	2864138a3c
15:78764079 IREB2 A>G	15	78764079	78764079	A	G	IREB2	c.700-4A>G	NM_004136.4	NP_004127.2:p.?	NC_000015.9:g.78764079A>G	(Likely) benign	1 lab	2864458ed7
19:38996561 RYR1 C>T	19	38996561	38996561	C	T	RYR1	c.8516C>T	NM_000540.3	NP_000531.2:p.(Thr2839Met)	NC_000019.9:g.38996561C>T	VUS	1 lab	2864b806be
17:75484342 SEPTIN9 C>T	17	75484342	75484342	C	T	SEPTIN9	c.1009C>T	NM_006640.4	NP_006631.2:p.(Arg337Trp)	NC_000017.10:g.75484342C>T	(Likely) benign	1 lab	1c8246c286
X:107408268 COL4A6 C>T	X	107408268	107408268	C	T	COL4A6	c.3809G>A	NM_033641.4	NP_378667.1:p.(Gly1270Asp)	NC_000023.10:g.107408268C>T	VUS	1 lab	28662a58e1
19:17688793 COLGALT1 G>A	19	17688793	17688793	G	A	COLGALT1	c.1161G>A	NM_024656.4	NP_078932.2:p.(Ala387=)	NC_000019.9:g.17688793G>A	(Likely) benign	1 lab	286645eea1
17:79804414 P4HB C>T	17	79804414	79804414	C	T	P4HB	c.947G>A	NM_000918.4	NP_000909.2:p.(Arg316His)	NC_000017.10:g.79804414C>T	(Likely) benign	1 lab	28675f3dda
3:139069087 MRPS22 C>T	3	139069087	139069087	C	T	MRPS22	c.571C>T	NM_020191.4	NP_064576.1:p.(Arg191Ter)	NC_000003.11:g.139069087C>T	VUS	1 lab	2868c35895
9:336736 DOCK8 A>T	9	336736	336736	A	T	DOCK8	c.1422+18A>T	NM_203447.3	NP_982272.2:p.?	NC_000009.11:g.336736A>T	(Likely) benign	1 lab	1c83cdc12d
14:34268963 NPAS3 G>A	14	34268963	34268963	G	A	NPAS3	c.1450G>A	NM_001164749.2	NP_001158221.1:p.(Asp484Asn)	NC_000014.8:g.34268963G>A	(Likely) benign	1 lab	286b7d8a6e
7:134130068 AKR1B1 AAGACCT>A	7	134130068	134130075	AAGACCT	A	AKR1B1	c.826-2_829del	NM_001628.4	NP_001619.1:p.?	NC_000007.13:g.134130070_134130075del	VUS	1 lab	286c46e98b
1:152281364 FLG T>C	1	152281364	152281364	T	C	FLG	c.5998A>G	NM_002016.2	NP_002007.1:p.(Ser2000Gly)	NC_000001.10:g.152281364T>C	VUS	1 lab	286ca815b1
9:2039795 SMARCA2 CAG>C	9	2039795	2039797	CAG	C	SMARCA2	c.686_687del	NM_003070.5	NP_003061.3:p.(Gln229ProfsTer29)	NC_000009.11:g.2039796_2039797del	VUS	1 lab	286d1ab004
12:132405746 ULK1 C>G	12	132405746	132405746	C	G	ULK1	c.3063C>G	NM_003565.4	NP_003556.2:p.(Leu1021=)	NC_000012.11:g.132405746C>G	VUS	1 lab	286d9b581e
X:139586488 SOX3 A>AGCG	X	139586488	139586493	A	AGCG	SOX3	c.735_737dup	NM_005634.3	NP_005625.2:p.(Ala248dup)	NC_000023.10:g.139586491_139586493dup	VUS	1 lab	2870d60ea2
6:87965535 ZNF292 C>T	6	87965535	87965535	C	T	ZNF292	c.2188C>T	NM_015021.3	NP_055836.1:p.(His730Tyr)	NC_000006.11:g.87965535C>T	VUS	1 lab	1c335af200
4:187541730 FAT1 T>C	4	187541730	187541730	T	C	FAT1	c.6010A>G	NM_005245.4	NP_005236.2:p.(Ile2004Val)	NC_000004.11:g.187541730T>C	(Likely) benign	1 lab	28745dadb2
7:44198656 GCK T>C	7	44198656	44198656	T	C	GCK	c.46-5594A>G	NM_000162.5	NP_000153.1:p.?	NC_000007.13:g.44198656T>C	(Likely) benign	1 lab	2875d46067
3:129226516 IFT122 G>A	3	129226516	129226516	G	A	IFT122	c.2797G>A	NM_052989.3	NP_443715.1:p.(Ala933Thr)	NC_000003.11:g.129226516G>A	(Likely) benign	1 lab	2875fb794e
11:57564142 CTNND1 G>A	11	57564142	57564142	G	A	CTNND1	c.634G>A	NM_001085458.2	NP_001078927.1:p.(Gly212Ser)	NC_000011.9:g.57564142G>A	(Likely) benign	1 lab	28765d57d2
17:80039669 FASN T>C	17	80039669	80039669	T	C	FASN	c.6214A>G	NM_004104.5	NP_004095.4:p.(Thr2072Ala)	NC_000017.10:g.80039669T>C	(Likely) benign	1 lab	2876c55f84
X:100524198 TAF7L G>A	X	100524198	100524198	G	A	TAF7L	c.1114C>T	NM_001168474.2	NP_001161946.1:p.(Arg372Cys)	NC_000023.10:g.100524198G>A	(Likely) benign	1 lab	2879288f08
11:117693185 FXYD2 G>A	11	117693185	117693185	G	A	FXYD2	c.75C>T	NM_001680.5	NP_001671.2:p.(Thr25=)	NC_000011.9:g.117693185G>A	(Likely) benign	1 lab	1c8f49dfec
14:91782095 CCDC88C G>A	14	91782095	91782095	G	A	CCDC88C	c.1564C>T	NM_001080414.4	NP_001073883.2:p.(Gln522Ter)	NC_000014.8:g.91782095G>A	(Likely) pathogenic	1 lab	287ab82a81
10:70775591 KIFBP CT>C	10	70775591	70775592	CT	C	KIFBP	c.1286del	NM_015634.4	NP_056449.1:p.(Leu429ArgfsTer23)	NC_000010.10:g.70775592del	VUS	1 lab	287b592315
7:94034154 COL1A2 C>T	7	94034154	94034154	C	T	COL1A2	c.382C>T	NM_000089.4	NP_000080.2:p.(Pro128Ser)	NC_000007.13:g.94034154C>T	VUS	1 lab	287bf87e8b
1:237666753 RYR2 C>T	1	237666753	237666753	C	T	RYR2	c.2561C>T	NM_001035.3	NP_001026.2:p.(Thr854Ile)	NC_000001.10:g.237666753C>T	VUS	1 lab	287ca1b6e3
1:234561498 TARBP1 T>C	1	234561498	234561498	T	C	TARBP1	c.3365A>G	NM_005646.4	NP_005637.3:p.(Lys1122Arg)	NC_000001.10:g.234561498T>C	(Likely) benign	1 lab	287d72d199
7:142574540 TRPV6 G>A	7	142574540	142574540	G	A	TRPV6	c.658C>T	NM_018646.6	NP_061116.5:p.(Arg220Trp)	NC_000007.13:g.142574540G>A	VUS	1 lab	28812685be
7:1608846 PSMG3 T>A	7	1608846	1608846	T	A	PSMG3	c.130A>T	NM_032302.4	NP_115678.1:p.(Thr44Ser)	NC_000007.13:g.1608846T>A	VUS	1 lab	28bde40ca1
17:78321987 RNF213 G>A	17	78321987	78321987	G	A	RNF213	c.9852G>A	NM_001256071.3	NP_001243000.2:p.(Ser3284=)	NC_000017.10:g.78321987G>A	(Likely) benign	1 lab	288186d6fa
X:10437590 MID1 C>T	X	10437590	10437590	C	T	MID1	c.1285+147G>A	NM_000381.4	NP_000372.1:p.?	NC_000023.10:g.10437590C>T	(Likely) benign	1 lab	2885581ac2
19:15315054 NOTCH3 C>T	19	15315054	15315054	C	T	NOTCH3				NC_000019.9:g.15315054C>T	VUS	1 lab	2885c783fc
11:113130951 NCAM1 G>T	11	113130951	113130951	G	T	NCAM1	c.2037G>T	NM_181351.5	NP_851996.2:p.(Glu679Asp)	NC_000011.9:g.113130951G>T	(Likely) benign	1 lab	288666b182
10:89503177 PAPSS2 G>A	10	89503177	89503177	G	A	PAPSS2	c.1270G>A	NM_001015880.2	NP_001015880.1:p.(Ala424Thr)	NC_000010.10:g.89503177G>A	VUS	1 lab	2886d5666e
18:60985852 BCL2 C>T	18	60985852	60985852	C	T	BCL2	c.48G>A	NM_000633.3	NP_000624.2:p.(Met16Ile)	NC_000018.9:g.60985852C>T	(Likely) benign	1 lab	288870809c
13:25670767 PABPC3 A>G	13	25670767	25670767	A	G	PABPC3	c.431A>G	NM_030979.3	NP_112241.2:p.(His144Arg)	NC_000013.10:g.25670767A>G	VUS	1 lab	288953fd88
16:30100394 TBX6 G>A	16	30100394	30100394	G	A	TBX6	c.491C>T	NM_004608.4	NP_004599.2:p.(Ala164Val)	NC_000016.9:g.30100394G>A	(Likely) pathogenic	1 lab	2889c1aa0a
17:66521095 PRKAR1A C>T	17	66521095	66521095	C	T	PRKAR1A	c.545C>T	NM_002734.5	NP_002725.1:p.(Thr182Met)	NC_000017.10:g.66521095C>T	VUS	1 lab	288b8c5722
11:117261473 CEP164 G>A	11	117261473	117261473	G	A	CEP164	c.1935-20G>A	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117261473G>A	(Likely) benign	1 lab	1c90a7a97b
5:140594186 PCDHB13 G>T	5	140594186	140594186	G	T	PCDHB13	c.491G>T	NM_018933.4	NP_061756.1:p.(Gly164Val)	NC_000005.9:g.140594186G>T	VUS	1 lab	288d99ce66
2:238991979 SCLY C>T	2	238991979	238991979	C	T	SCLY	c.868C>T	NM_016510.7	NP_057594.5:p.(Arg290Trp)	NC_000002.11:g.238991979C>T	VUS	1 lab	288de6d1b6
11:34098028 CAPRIN1 G>A	11	34098028	34098028	G	A	CAPRIN1	c.605+7G>A	NM_005898.5	NP_005889.3:p.?	NC_000011.9:g.34098028G>A	(Likely) benign	1 lab	288e28b8ce
7:75614279 POR GCGCCCCCTCAGCCCCCGCAACCTC>G	7	75614279	75614309	GCGCCCCCTCAGCCCCCGCAACCTC	G	POR	c.1248+10_1248+33del	NM_000941.3	NP_000932.3:p.?	NC_000007.13:g.75614286_75614309del	(Likely) benign	1 lab	288e86436e
11:57578864 CTNND1 C>T	11	57578864	57578864	C	T	CTNND1	c.2551-7C>T	NM_001085458.2	NP_001078927.1:p.?	NC_000011.9:g.57578864C>T	(Likely) benign	1 lab	288ea2a442
X:152991160 ABCD1 G>A	X	152991160	152991160	G	A	ABCD1	c.439G>A	NM_000033.4	NP_000024.2:p.(Val147Ile)	NC_000023.10:g.152991160G>A	(Likely) benign	1 lab	2890218b49
21:47855814 PCNT C>T	21	47855814	47855814	C	T	PCNT	c.8752-3C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47855814C>T	(Likely) benign	1 lab	289194edde
14:93649924 MOAP1 TGAG>T	14	93649924	93649929	TGAG	T	MOAP1	c.661_663del	NM_022151.5	NP_071434.2:p.(Leu221del)	NC_000014.8:g.93649927_93649929del	VUS	1 lab	28924ec847
X:101381778 TCEAL2 A>C	X	101381778	101381778	A	C	TCEAL2	c.-25A>C	NM_080390.4	NP_525129.1:p.?	NC_000023.10:g.101381778A>C	(Likely) benign	1 lab	28945c03b9
17:42158204 HDAC5 G>T	17	42158204	42158204	G	T	HDAC5	c.2654C>A	NM_005474.5	NP_005465.2:p.(Pro885His)	NC_000017.10:g.42158204G>T	VUS	1 lab	2895e723c1
2:191922910 STAT4 A>G	2	191922910	191922910	A	G	STAT4	c.1112+18T>C	NM_003151.4	NP_003142.1:p.?	NC_000002.11:g.191922910A>G	(Likely) benign	1 lab	1c91696d1e
14:74754575 ABCD4 G>C	14	74754575	74754575	G	C	ABCD4	c.1574C>G	NM_005050.4	NP_005041.1:p.(Ser525Cys)	NC_000014.8:g.74754575G>C	VUS	1 lab	2b68a65ede
7:98575886 TRRAP G>A	7	98575886	98575886	G	A	TRRAP	c.8438G>A	NM_001375524.1	NP_001362453.1:p.(Arg2813Lys)	NC_000007.13:g.98575886G>A	(Likely) benign	1 lab	2898ad9005
15:78755354 IREB2 T>C	15	78755354	78755354	T	C	IREB2	c.197T>C	NM_004136.4	NP_004127.2:p.(Ile66Thr)	NC_000015.9:g.78755354T>C	VUS	1 lab	28992eddfd
X:41333322 NYX C>T	X	41333322	41333322	C	T	NYX	c.616C>T	NM_001378477.1	NP_001365406.1:p.(Arg206Cys)	NC_000023.10:g.41333322C>T	(Likely) benign	1 lab	2899823d00
1:29557343 MECR A>C	1	29557343	29557343	A	C	MECR	c.76T>G	NM_016011.5	NP_057095.4:p.(Cys26Gly)	NC_000001.10:g.29557343A>C	(Likely) benign	1 lab	289af320f7
4:6302559 WFS1 C>T	4	6302559	6302559	C	T	WFS1	c.1037C>T	NM_006005.3	NP_005996.2:p.(Pro346Leu)	NC_000004.11:g.6302559C>T	(Likely) pathogenic	1 lab	289b1863f9
12:49948205 KCNH3 C>T	12	49948205	49948205	C	T	KCNH3	c.2004C>T	NM_012284.3	NP_036416.1:p.(Cys668=)	NC_000012.11:g.49948205C>T	(Likely) benign	1 lab	289cca0d1a
10:43297639 BMS1 G>A	10	43297639	43297639	G	A	BMS1	c.2302G>A	NM_014753.4	NP_055568.3:p.(Asp768Asn)	NC_000010.10:g.43297639G>A	(Likely) benign	1 lab	289d4a8ceb
5:126753365 MEGF10 C>T	5	126753365	126753365	C	T	MEGF10	c.1166C>T	NM_001256545.2	NP_001243474.1:p.(Pro389Leu)	NC_000005.9:g.126753365C>T	VUS	1 lab	289e1099ae
1:197059131 ASPM T>G	1	197059131	197059131	T	G	ASPM	c.9913A>C	NM_018136.5	NP_060606.3:p.(Ser3305Arg)	NC_000001.10:g.197059131T>G	VUS	1 lab	28a011564e
3:52731900 GLT8D1 G>T	3	52731900	52731900	G	T	GLT8D1	c.166C>A	NM_018446.4	NP_060916.1:p.(Arg56=)	NC_000003.11:g.52731900G>T	(Likely) benign	1 lab	28a17cf439
X:114424021 RBMXL3 G>A	X	114424021	114424021	G	A	RBMXL3	c.17G>A	NM_001145346.2	NP_001138818.1:p.(Arg6His)	NC_000023.10:g.114424021G>A	(Likely) benign	1 lab	28a20a121a
2:241818168 AGXT G>A	2	241818168	241818168	G	A	AGXT	c.1109G>A	NM_000030.3	NP_000021.1:p.(Arg370His)	NC_000002.11:g.241818168G>A	VUS	1 lab	28a27a4924
16:14031618 ERCC4 T>C	16	14031618	14031618	T	C	ERCC4	c.1812-5T>C	NM_005236.3	NP_005227.1:p.?	NC_000016.9:g.14031618T>C	(Likely) benign	1 lab	28a2e17625
12:123682840 MPHOSPH9 C>T	12	123682840	123682840	C	T	MPHOSPH9	c.1979G>A	NM_022782.4	NP_073619.3:p.(Arg660His)	NC_000012.11:g.123682840C>T	(Likely) benign	1 lab	28a4fe85e1
11:46920497 LRP4 C>T	11	46920497	46920497	C	T	LRP4	c.634G>A	NM_002334.4	NP_002325.2:p.(Gly212Ser)	NC_000011.9:g.46920497C>T	VUS	1 lab	28a5bfcadd
5:55247880 IL6ST G>A	5	55247880	55247880	G	A	IL6ST	c.1576C>T	NM_002184.4	NP_002175.2:p.(Arg526Trp)	NC_000005.9:g.55247880G>A	VUS	1 lab	28a927b701
13:100622837 ZIC5 C>CCGG	13	100622837	100622854	C	CCGG	ZIC5	c.1018_1020dup	NM_033132.5	NP_149123.3:p.(Pro340dup)	NC_000013.10:g.100622852_100622854dup	VUS	1 lab	28aa38b178
11:118390432 KMT2A G>A	11	118390432	118390432	G	A	KMT2A	c.11246G>A	NM_001197104.2	NP_001184033.1:p.(Arg3749His)	NC_000011.9:g.118390432G>A	VUS	1 lab	28aaad99af
2:233388527 PRSS56 A>AC	2	233388527	233388535	A	AC	PRSS56	c.1066dup	NM_001195129.2	NP_001182058.1:p.(Gln356ProfsTer152)	NC_000002.11:g.233388535dup	(Likely) pathogenic	1 lab	28abee3cda
17:1945176 DPH1 G>T	17	1945176	1945176	G	T	DPH1	c.*18+7G>T	NM_001383.6	NP_001374.4:p.?	NC_000017.10:g.1945176G>T	(Likely) benign	1 lab	28ac225cad
18:29102082 DSG2 A>G	18	29102082	29102082	A	G	DSG2	c.560A>G	NM_001943.5	NP_001934.2:p.(Asp187Gly)	NC_000018.9:g.29102082A>G	VUS	1 lab	1c33801d69
20:50406754 SALL4 G>A	20	50406754	50406754	G	A	SALL4	c.2268C>T	NM_020436.5	NP_065169.1:p.(Ser756=)	NC_000020.10:g.50406754G>A	(Likely) benign	1 lab	28aded5865
X:8766490 FAM9A T>G	X	8766490	8766490	T	G	FAM9A	c.251A>C	NM_174951.3	NP_777611.1:p.(Glu84Ala)	NC_000023.10:g.8766490T>G	VUS	1 lab	28ae354363
X:86872953 KLHL4 A>G	X	86872953	86872953	A	G	KLHL4	c.746A>G	NM_019117.5	NP_061990.2:p.(Glu249Gly)	NC_000023.10:g.86872953A>G	VUS	1 lab	28aeea008f
1:113162494 CAPZA1 G>A	1	113162494	113162494	G	A	CAPZA1	c.28G>A	NM_006135.3	NP_006126.1:p.(Asp10Asn)	NC_000001.10:g.113162494G>A	(Likely) benign	1 lab	1c91b040d0
3:196434771 CEP19 G>T	3	196434771	196434771	G	T	CEP19	c.143C>A	NM_032898.5	NP_116287.3:p.(Ala48Asp)	NC_000003.11:g.196434771G>T	VUS	1 lab	28affc7ef8
8:68007675 CSPP1 C>T	8	68007675	68007675	C	T	CSPP1	c.631C>T	NM_001382391.1	NP_001369320.1:p.(Arg211Ter)	NC_000008.10:g.68007675C>T	(Likely) pathogenic	1 lab	28b07b9b73
2:220435753 OBSL1 C>T	2	220435753	220435753	C	T	OBSL1	c.202G>A	NM_015311.3	NP_056126.1:p.(Gly68Ser)	NC_000002.11:g.220435753C>T	(Likely) benign	1 lab	28b13f8475
X:153217568 HCFC1 C>T	X	153217568	153217568	C	T	HCFC1	c.4984G>A	NM_005334.3	NP_005325.2:p.(Val1662Met)	NC_000023.10:g.153217568C>T	VUS	1 lab	28b27d69f7
X:114871141 PLS3 C>T	X	114871141	114871141	C	T	PLS3	c.749-7C>T	NM_005032.7	NP_005023.2:p.?	NC_000023.10:g.114871141C>T	(Likely) benign	1 lab	28b32a6806
6:43487830 POLR1C A>G	6	43487830	43487830	A	G	POLR1C	c.409A>G	NM_203290.4	NP_976035.1:p.(Thr137Ala)	NC_000006.11:g.43487830A>G	VUS	1 lab	28b35a3535
2:182542615 NEUROD1 G>T	2	182542615	182542615	G	T	NEUROD1	c.973C>A	NM_002500.5	NP_002491.3:p.(Arg325Ser)	NC_000002.11:g.182542615G>T	VUS	1 lab	28b4152025
22:19471518 CDC45 G>T	22	19471518	19471518	G	T	CDC45	c.476G>T	NM_003504.5	NP_003495.1:p.(Arg159Leu)	NC_000022.10:g.19471518G>T	VUS	1 lab	28b431c4c3
2:219920349 IHH T>C	2	219920349	219920349	T	C	IHH	c.816A>G	NM_002181.4	NP_002172.2:p.(Thr272=)	NC_000002.11:g.219920349T>C	(Likely) benign	1 lab	28b46d9edf
9:35792938 NPR2 G>A	9	35792938	35792938	G	A	NPR2	c.533G>A	NM_003995.4	NP_003986.2:p.(Arg178Gln)	NC_000009.11:g.35792938G>A	VUS	1 lab	28b6098676
3:49114155 QRICH1 G>A	3	49114155	49114155	G	A	QRICH1	c.296C>T	NM_198880.3	NP_942581.1:p.(Pro99Leu)	NC_000003.11:g.49114155G>A	VUS	1 lab	28b7675ca5
2:128385999 MYO7B G>A	2	128385999	128385999	G	A	MYO7B	c.4513G>A	NM_001393586.1	NP_001380515.1:p.(Glu1505Lys)	NC_000002.11:g.128385999G>A	VUS	1 lab	28b791421b
19:40376884 FCGBP G>C	19	40376884	40376884	G	C	FCGBP	c.11538C>G	NM_003890.3	NP_003881.2:p.(Ser3846Arg)	NC_000019.9:g.40376884G>C	(Likely) benign	1 lab	28b854c719
19:55087463 LILRA2 G>C	19	55087463	55087463	G	C	LILRA2	c.1142G>C	NM_001130917.3	NP_001124389.2:p.(Arg381Pro)	NC_000019.9:g.55087463G>C	(Likely) benign	1 lab	28b8649219
2:179567366 TTN C>T	2	179567366	179567366	C	T	TTN	c.30248G>A	NM_001267550.2	NP_001254479.2:p.(Arg10083His)	NC_000002.11:g.179567366C>T	VUS	1 lab	28b8a8b380
19:15302825 NOTCH3 C>T	19	15302825	15302825	C	T	NOTCH3	c.625G>A	NM_000435.3	NP_000426.2:p.(Gly209Arg)	NC_000019.9:g.15302825C>T	VUS	1 lab	28baf6e9b3
6:91263279 MAP3K7 C>T	6	91263279	91263279	C	T	MAP3K7	c.634G>A	NM_145331.3	NP_663304.1:p.(Val212Ile)	NC_000006.11:g.91263279C>T	(Likely) benign	1 lab	28bba21947
4:5803763 EVC C>T	4	5803763	5803763	C	T	EVC	c.2391C>T	NM_153717.3	NP_714928.1:p.(Ile797=)	NC_000004.11:g.5803763C>T	VUS	1 lab	28bf3e0add
10:17127754 CUBN C>T	10	17127754	17127754	C	T	CUBN	c.1952G>A	NM_001081.4	NP_001072.2:p.(Arg651Gln)	NC_000010.10:g.17127754C>T	VUS	1 lab	28c194e2f4
4:38016354 TBC1D1 CAA>C	4	38016354	38016356	CAA	C	TBC1D1	c.643_644del	NM_001396959.1	NP_001383888.1:p.(Asn215ProfsTer32)	NC_000004.11:g.38016355_38016356del	(Likely) benign	1 lab	28c2583d57
2:179430579 TTN T>G	2	179430579	179430579	T	G	TTN	c.80280A>C	NM_001267550.2	NP_001254479.2:p.(Glu26760Asp)	NC_000002.11:g.179430579T>G	VUS	1 lab	28c26bdd13
12:52115337 SCN8A T>TCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAG	12	52115337	52115389	T	TCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAACAGCAAGAG	SCN8A	c.1651_1695dup	NM_001330260.2	NP_001317189.1:p.(Pro551_Ile565dup)	NC_000012.11:g.52115345_52115389dup	VUS	1 lab	28c34e4d5e
22:42608598 TCF20 CTT>C	22	42608598	42608600	CTT	C	TCF20	c.2712_2713del	NM_001378418.1	NP_001365347.1:p.(Gln906ValfsTer28)	NC_000022.10:g.42608599_42608600del	(Likely) pathogenic	1 lab	28c5b4ebf8
1:39951247 MACF1 TGGGAGTCGAGCC>T	1	39951247	39951271	TGGGAGTCGAGCC	T	MACF1	c.22462_22473del	NM_001394062.1	NP_001380991.1:p.(Gly7488_Ala7491del)	NC_000001.10:g.39951260_39951271del	(Likely) benign	1 lab	28c6b52dd5
3:11067482 SLC6A1 G>C	3	11067482	11067482	G	C	SLC6A1	c.873G>C	NM_003042.4	NP_003033.3:p.(Gln291His)	NC_000003.11:g.11067482G>C	(Likely) pathogenic	1 lab	28c7c38f69
12:115112196 TBX3 C>T	12	115112196	115112196	C	T	TBX3	c.1484G>A	NM_005996.4	NP_005987.3:p.(Gly495Glu)	NC_000012.11:g.115112196C>T	(Likely) benign	1 lab	28c8d06550
19:48814842 ODAD1 G>A	19	48814842	48814842	G	A	ODAD1	c.565C>T	NM_001364171.2	NP_001351100.1:p.(Arg189Cys)	NC_000019.9:g.48814842G>A	(Likely) benign	1 lab	28c9c61d61
10:34805975 PARD3 T>C	10	34805975	34805975	T	C	PARD3	c.335A>G	NM_001184785.2	NP_001171714.1:p.(Asn112Ser)	NC_000010.10:g.34805975T>C	VUS	1 lab	28c9ce30ab
21:47769067 PCNT GAGA>G	21	47769067	47769073	GAGA	G	PCNT	c.1178_1180del	NM_006031.6	NP_006022.3:p.(Lys393del)	NC_000021.8:g.47769071_47769073del	VUS	1 lab	28ca56f5f4
15:79054889 ADAMTS7 C>T	15	79054889	79054889	C	T	ADAMTS7	c.4759G>A	NM_014272.5	NP_055087.2:p.(Gly1587Ser)	NC_000015.9:g.79054889C>T	VUS	1 lab	28cbb1eac1
8:133909960 TG G>C	8	133909960	133909960	G	C	TG	c.3068G>C	NM_003235.5	NP_003226.4:p.(Arg1023Pro)	NC_000008.10:g.133909960G>C	VUS	1 lab	28cbe7b26e
7:104753472 KMT2E A>G	7	104753472	104753472	A	G	KMT2E	c.5269A>G	NM_182931.3	NP_891847.1:p.(Thr1757Ala)	NC_000007.13:g.104753472A>G	(Likely) benign	1 lab	28cc700c9a
X:64958824 MSN C>T	X	64958824	64958824	C	T	MSN	c.1345-8C>T	NM_002444.3	NP_002435.1:p.?	NC_000023.10:g.64958824C>T	(Likely) benign	1 lab	28cd54b34a
12:66308833 HMGA2 C>A	12	66308833	66308833	C	A	HMGA2	c.250-36330C>A	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66308833C>A	(Likely) benign	1 lab	28dfa87274
12:133084943 FBRSL1 A>AACAGCTCCAGCCCAGCCAGTCCAGCCAGCCCCAGG	12	133084943	133084944	A	AACAGCTCCAGCCCAGCCAGTCCAGCCAGCCCCAGG	FBRSL1	c.489+7_489+8insACAGCTCCAGCCCAGCCAGTCCAGCCAGCCCCAGG	NM_001367871.1	NP_001354800.1:p.?	NC_000012.11:g.133084943_133084944insACAGCTCCAGCCCAGCCAGTCCAGCCAGCCCCAGG	VUS	1 lab	28cd8e39a4
5:80064749 MSH3 G>A	5	80064749	80064749	G	A	MSH3	c.2180G>A	NM_002439.5	NP_002430.3:p.(Arg727Gln)	NC_000005.9:g.80064749G>A	VUS	1 lab	343f40145f
5:149516621 PDGFRB A>G	5	149516621	149516621	A	G	PDGFRB	c.-6-5T>C	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149516621A>G	(Likely) benign	1 lab	28cf3df3c4
14:105413040 AHNAK2 T>C	14	105413040	105413040	T	C	AHNAK2	c.8748A>G	NM_138420.4	NP_612429.2:p.(Ile2916Met)	NC_000014.8:g.105413040T>C	VUS	1 lab	28d23b5a2d
16:1496636 CLCN7 G>C	16	1496636	1496636	G	C	CLCN7	c.2414C>G	NM_001287.6	NP_001278.1:p.(Thr805Arg)	NC_000016.9:g.1496636G>C	VUS	1 lab	28d25a73b7
2:179482192 TTN A>G	2	179482192	179482192	A	G	TTN	c.47620T>C	NM_001267550.2	NP_001254479.2:p.(Ser15874Pro)	NC_000002.11:g.179482192A>G	VUS	1 lab	28d40644d7
14:42356123 LRFN5 C>T	14	42356123	42356123	C	T	LRFN5	c.295C>T	NM_152447.5	NP_689660.2:p.(Arg99Ter)	NC_000014.8:g.42356123C>T	VUS	1 lab	28d6977d69
19:11311656 DOCK6 C>T	19	11311656	11311656	C	T	DOCK6	c.5761G>A	NM_020812.4	NP_065863.2:p.(Glu1921Lys)	NC_000019.9:g.11311656C>T	(Likely) benign	1 lab	28d6d57872
19:46307572 RSPH6A C>T	19	46307572	46307572	C	T	RSPH6A	c.1591G>A	NM_030785.4	NP_110412.1:p.(Val531Met)	NC_000019.9:g.46307572C>T	VUS	1 lab	28d935148a
10:112362397 SMC3 G>A	10	112362397	112362397	G	A	SMC3	c.3271G>A	NM_005445.4	NP_005436.1:p.(Asp1091Asn)	NC_000010.10:g.112362397G>A	VUS	1 lab	28d9919466
13:32912487 BRCA2 A>G	13	32912487	32912487	A	G	BRCA2	c.3995A>G	NM_000059.4	NP_000050.3:p.(His1332Arg)	NC_000013.10:g.32912487A>G	(Likely) benign	1 lab	28da9bc8ee
19:50091763 PRRG2 G>A	19	50091763	50091763	G	A	PRRG2	c.311G>A	NM_000951.3	NP_000942.1:p.(Arg104Gln)	NC_000019.9:g.50091763G>A	(Likely) benign	1 lab	28dbd55bbe
11:45956717 PHF21A G>A	11	45956717	45956717	G	A	PHF21A	c.1788+470C>T	NM_001352027.3	NP_001338956.1:p.?	NC_000011.9:g.45956717G>A	VUS	1 lab	28dbff11b5
X:56755851 NBDY A>G	X	56755851	56755851	A	G	NBDY	c.65A>G	NM_001348129.2	NP_001335058.1:p.(Lys22Arg)	NC_000023.10:g.56755851A>G	VUS	1 lab	28dc8a2b62
7:156802561 MNX1 G>C	7	156802561	156802561	G	C	MNX1	c.484C>G	NM_005515.4	NP_005506.3:p.(Pro162Ala)	NC_000007.13:g.156802561G>C	VUS	1 lab	28de81086d
22:50988177 KLHDC7B G>C	22	50988177	50988177	G	C	KLHDC7B	c.3505G>C	NM_138433.5	NP_612442.3:p.(Ala1169Pro)	NC_000022.10:g.50988177G>C	(Likely) benign	1 lab	28e4c8b7d1
10:114889626 TCF7L2 G>A	10	114889626	114889626	G	A	TCF7L2	c.553-11317G>A	NM_001367943.1	NP_001354872.1:p.?	NC_000010.10:g.114889626G>A	(Likely) benign	1 lab	28e5e4ac1e
8:61714084 CHD7 T>TTCCTAAAA	8	61714084	61714085	T	TTCCTAAAA	CHD7	c.2377-3_2377-2insTCCTAAAA	NM_017780.4	NP_060250.2:p.?	NC_000008.10:g.61714084_61714085insTCCTAAAA	VUS	1 lab	28e7051bdf
10:51225281 PARG C>G	10	51225281	51225281	C	G	PARG	c.1454-94566G>C	NM_003631.5	NP_003622.2:p.?	NC_000010.10:g.51225281C>G	VUS	1 lab	28e775c71e
3:126751401 PLXNA1 C>G	3	126751401	126751401	C	G	PLXNA1	c.5403C>G	NM_032242.4	NP_115618.3:p.(Leu1801=)	NC_000003.11:g.126751401C>G	(Likely) benign	1 lab	28e7da01b1
8:145006219 PLEC C>T	8	145006219	145006219	C	T	PLEC	c.2083-19G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145006219C>T	(Likely) benign	1 lab	28ea1eda29
12:49425477 KMT2D AGGGAGCTGGGCCTCAGTGGGAAGCT>A	12	49425477	49425512	AGGGAGCTGGGCCTCAGTGGGAAGCT	A	KMT2D	c.12986_13010del	NM_003482.4	NP_003473.3:p.(Gln4329LeufsTer47)	NC_000012.11:g.49425488_49425512del	(Likely) pathogenic	1 lab	28eb200a09
20:33575058 MYH7B G>T	20	33575058	33575058	G	T	MYH7B	c.1115G>T	NM_020884.7	NP_065935.4:p.(Arg372Leu)	NC_000020.10:g.33575058G>T	VUS	1 lab	28eb7185e5
X:48682004 HDAC6 G>T	X	48682004	48682004	G	T	HDAC6	c.3189+6G>T	NM_006044.4	NP_006035.2:p.?	NC_000023.10:g.48682004G>T	VUS	1 lab	28ec417cce
17:62080221 ICAM2 G>C	17	62080221	62080221	G	C	ICAM2	c.714C>G	NM_001099789.2	NP_001093259.1:p.(Phe238Leu)	NC_000017.10:g.62080221G>C	(Likely) benign	1 lab	28ed8f7fe3
16:88782216 PIEZO1 C>T	16	88782216	88782216	C	T	PIEZO1	c.7363G>A	NM_001142864.4	NP_001136336.2:p.(Val2455Met)	NC_000016.9:g.88782216C>T	VUS	1 lab	28f2a9d9fc
8:37607315 ERLIN2 G>C	8	37607315	37607315	G	C	ERLIN2	c.502G>C	NM_007175.8	NP_009106.1:p.(Val168Leu)	NC_000008.10:g.37607315G>C	VUS	1 lab	1c3b38a820
21:47655298 MCM3AP C>G	21	47655298	47655298	C	G	MCM3AP	c.5827G>C	NM_003906.5	NP_003897.2:p.(Gly1943Arg)	NC_000021.8:g.47655298C>G	(Likely) benign	1 lab	28f47df004
8:145009484 PLEC G>A	8	145009484	145009484	G	A	PLEC	c.603-3C>T	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145009484G>A	(Likely) benign	1 lab	28f7cc392d
6:43528647 XPO5 T>G	6	43528647	43528647	T	G	XPO5	c.1095+14A>C	NM_020750.3	NP_065801.1:p.?	NC_000006.11:g.43528647T>G	(Likely) benign	1 lab	1c9be68536
13:28895726 FLT1 T>C	13	28895726	28895726	T	C	FLT1	c.3052-4A>G	NM_002019.4	NP_002010.2:p.?	NC_000013.10:g.28895726T>C	(Likely) benign	1 lab	28facf61f5
21:34924772 SON G>T	21	34924772	34924772	G	T	SON	c.3235G>T	NM_138927.4	NP_620305.3:p.(Ala1079Ser)	NC_000021.8:g.34924772G>T	VUS	1 lab	28fb839f43
3:58145373 FLNB TGGA>T	3	58145373	58145377	TGGA	T	FLNB	c.6983_6985del	NM_001457.4	NP_001448.2:p.(Gly2328del)	NC_000003.11:g.58145375_58145377del	VUS	1 lab	28fbd8b2a6
19:15355374 BRD4 G>A	19	15355374	15355374	G	A	BRD4	c.2249C>T	NM_001379291.1	NP_001366220.1:p.(Pro750Leu)	NC_000019.9:g.15355374G>A	(Likely) benign	1 lab	28ff86d634
1:161126743 UFC1 G>C	1	161126743	161126743	G	C	UFC1	c.127G>C	NM_016406.4	NP_057490.2:p.(Val43Leu)	NC_000001.10:g.161126743G>C	VUS	1 lab	290090ff0b
22:32150851 DEPDC5 G>C	22	32150851	32150851	G	C	DEPDC5	c.-57G>C	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32150851G>C	VUS	1 lab	343fea8e08
3:9859361 TTLL3 G>A	3	9859361	9859361	G	A	TTLL3	c.477G>A	NM_001387446.1	NP_001374375.1:p.(Pro159=)	NC_000003.11:g.9859361G>A	VUS	1 lab	290126d050
7:100285021 GIGYF1 G>A	7	100285021	100285021	G	A	GIGYF1	c.382C>T	NM_001375765.1	NP_001362694.1:p.(Arg128Cys)	NC_000007.13:g.100285021G>A	VUS	1 lab	2901388a1c
11:102080287 YAP1 A>G	11	102080287	102080287	A	G	YAP1	c.1024A>G	NM_001130145.3	NP_001123617.1:p.(Lys342Glu)	NC_000011.9:g.102080287A>G	(Likely) benign	1 lab	29013b4f75
6:158537214 SERAC1 T>G	6	158537214	158537214	T	G	SERAC1	c.1501+3A>C	NM_032861.4	NP_116250.3:p.?	NC_000006.11:g.158537214T>G	VUS	1 lab	29043ced6b
X:153592984 FLNA G>A	X	153592984	153592984	G	A	FLNA	c.1932C>T	NM_001110556.2	NP_001104026.1:p.(Ala644=)	NC_000023.10:g.153592984G>A	(Likely) benign	1 lab	2905afa73e
5:89933828 ADGRV1 AT>A	5	89933828	89933838	AT	A	ADGRV1	c.2240+73del	NM_032119.4	NP_115495.3:p.?	NC_000005.9:g.89933838del	(Likely) benign	1 lab	1c9d603d2a
X:100871264 ARMCX6 T>C	X	100871264	100871264	T	C	ARMCX6	c.347A>G	NM_019007.4	NP_061880.2:p.(Gln116Arg)	NC_000023.10:g.100871264T>C	(Likely) benign	1 lab	2907287afc
16:67006793 CES3 A>G	16	67006793	67006793	A	G	CES3	c.1557A>G	NM_024922.6	NP_079198.2:p.(Gln519=)	NC_000016.9:g.67006793A>G	(Likely) benign	1 lab	29079a3409
11:4107780 STIM1 A>G	11	4107780	4107780	A	G	STIM1	c.1634+7A>G	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4107780A>G	(Likely) benign	1 lab	29081745b6
7:128484216 FLNC C>A	7	128484216	128484216	C	A	FLNC	c.3088C>A	NM_001458.5	NP_001449.3:p.(Pro1030Thr)	NC_000007.13:g.128484216C>A	VUS	1 lab	290882a91d
17:78341656 RNF213 C>T	17	78341656	78341656	C	T	RNF213	c.11972+8C>T	NM_001256071.3	NP_001243000.2:p.?	NC_000017.10:g.78341656C>T	(Likely) benign	1 lab	290c0f4f18
1:22160419 HSPG2 C>G	1	22160419	22160419	C	G	HSPG2	c.10724-1G>C	NM_001291860.2	NP_001278789.1:p.?	NC_000001.10:g.22160419C>G	(Likely) pathogenic	1 lab	1c9dc935b9
2:109381437 RANBP2 G>A	2	109381437	109381437	G	A	RANBP2	c.4442G>A	NM_006267.5	NP_006258.3:p.(Gly1481Glu)	NC_000002.11:g.109381437G>A	(Likely) benign	1 lab	290d5fecf1
16:89815165 FANCA G>A	16	89815165	89815165	G	A	FANCA	c.3250C>T	NM_000135.4	NP_000126.2:p.(Arg1084Cys)	NC_000016.9:g.89815165G>A	VUS	1 lab	290ed22176
15:23890482 MAGEL2 G>T	15	23890482	23890482	G	T	MAGEL2	c.2408C>A	NM_019066.5	NP_061939.3:p.(Ala803Asp)	NC_000015.9:g.23890482G>T	VUS	1 lab	290f5a5058
19:880148 MED16 C>T	19	880148	880148	C	T	MED16	c.1142G>A	NM_005481.3	NP_005472.2:p.(Gly381Glu)	NC_000019.9:g.880148C>T	VUS	1 lab	291070f6b0
2:86258763 POLR1A C>T	2	86258763	86258763	C	T	POLR1A	c.4273-5G>A	NM_015425.6	NP_056240.2:p.?	NC_000002.11:g.86258763C>T	(Likely) benign	1 lab	2910bcc164
6:79735332 PHIP G>A	6	79735332	79735332	G	A	PHIP	c.827C>T	NM_017934.7	NP_060404.4:p.(Ser276Leu)	NC_000006.11:g.79735332G>A	VUS	1 lab	29117ce94d
4:3222021 HTT G>T	4	3222021	3222021	G	T	HTT	c.7355G>T	NM_001388492.1	NP_001375421.1:p.(Arg2452Leu)	NC_000004.11:g.3222021G>T	VUS	1 lab	2912f54946
12:6954849 GNB3 G>A	12	6954849	6954849	G	A	GNB3	c.799G>A	NM_002075.4	NP_002066.1:p.(Glu267Lys)	NC_000012.11:g.6954849G>A	(Likely) benign	1 lab	2913226233
15:99192918 IGF1R C>T	15	99192918	99192918	C	T	IGF1R	c.94+14C>T	NM_000875.5	NP_000866.1:p.?	NC_000015.9:g.99192918C>T	(Likely) benign	1 lab	2914d65e58
19:55453077 NLRP7 CAT>C	19	55453077	55453080	CAT	C	NLRP7	c.1_2del	NM_001127255.2	NP_001120727.1:p.(Met1?)	NC_000019.9:g.55453079_55453080del	VUS	1 lab	2915ae8acf
X:21674284 KLHL34 G>C	X	21674284	21674284	G	C	KLHL34	c.1623C>G	NM_153270.3	NP_695002.1:p.(Ile541Met)	NC_000023.10:g.21674284G>C	(Likely) benign	1 lab	2915dc811f
2:70524437 TIMCC A>G	2	70524437	70524437	A	G	TIMCC	c.722T>C	NM_001329752.2	NP_001316681.1:p.(Leu241Ser)	NC_000002.11:g.70524437A>G	(Likely) benign	1 lab	2916187239
10:30602650 MTPAP C>T	10	30602650	30602650	C	T	MTPAP	c.1637G>A	NM_018109.4	NP_060579.3:p.(Ser546Asn)	NC_000010.10:g.30602650C>T	(Likely) benign	1 lab	1c426b6a66
6:82461739 TENT5A GCC>G	6	82461739	82461741	GCC	G	TENT5A	c.118_119del	NM_017633.3	NP_060103.2:p.(Gly40ArgfsTer153)	NC_000006.11:g.82461740_82461741del	VUS	1 lab	29187a1b62
20:50406612 SALL4 C>T	20	50406612	50406612	C	T	SALL4	c.2410G>A	NM_020436.5	NP_065169.1:p.(Asp804Asn)	NC_000020.10:g.50406612C>T	(Likely) benign	1 lab	2919d0d716
X:12734856 FRMPD4 C>T	X	12734856	12734856	C	T	FRMPD4	c.2278C>T	NM_001368397.1	NP_001355326.1:p.(Leu760Phe)	NC_000023.10:g.12734856C>T	VUS	1 lab	291ae34ade
6:51640642 PKHD1 G>C	6	51640642	51640642	G	C	PKHD1	c.8518C>G	NM_138694.4	NP_619639.3:p.(Arg2840Gly)	NC_000006.11:g.51640642G>C	(Likely) benign	1 lab	291c5b998d
4:5735088 EVC G>A	4	5735088	5735088	G	A	EVC	c.628G>A	NM_153717.3	NP_714928.1:p.(Asp210Asn)	NC_000004.11:g.5735088G>A	(Likely) benign	1 lab	291d27e3bc
2:179415725 TTN A>C	2	179415725	179415725	A	C	TTN	c.91533T>G	NM_001267550.2	NP_001254479.2:p.(Ser30511=)	NC_000002.11:g.179415725A>C	(Likely) benign	1 lab	291dc8c3aa
8:3200818 CSMD1 G>T	8	3200818	3200818	G	T	CSMD1	c.3629C>A	NM_033225.6	NP_150094.5:p.(Thr1210Asn)	NC_000008.10:g.3200818G>T	VUS	1 lab	29214fe947
1:111146774 KCNA2 C>T	1	111146774	111146774	C	T	KCNA2	c.631G>A	NM_004974.4	NP_004965.1:p.(Gly211Arg)	NC_000001.10:g.111146774C>T	(Likely) benign	1 lab	2923671315
3:3189218 TRNT1 T>C	3	3189218	3189218	T	C	TRNT1	c.887T>C	NM_182916.3	NP_886552.3:p.(Leu296Ser)	NC_000003.11:g.3189218T>C	VUS	1 lab	292674f191
18:19751732 GATA6 C>A	18	19751732	19751732	C	A	GATA6	c.627C>A	NM_005257.6	NP_005248.2:p.(Gly209=)	NC_000018.9:g.19751732C>A	(Likely) benign	1 lab	292758ed9e
18:60052151 TNFRSF11A G>T	18	60052151	60052151	G	T	TNFRSF11A	c.1693G>T	NM_001278268.2	NP_001265197.1:p.(Asp565Tyr)	NC_000018.9:g.60052151G>T	VUS	1 lab	1c439c7bee
12:56994258 BAZ2A C>G	12	56994258	56994258	C	G	BAZ2A	c.4619G>C	NM_001300905.2	NP_001287834.1:p.(Ser1540Thr)	NC_000012.11:g.56994258C>G	VUS	1 lab	29282eefb4
5:177422883 PROP1 C>T	5	177422883	177422883	C	T	PROP1	c.52G>A	NM_006261.5	NP_006252.4:p.(Gly18Ser)	NC_000005.9:g.177422883C>T	(Likely) benign	1 lab	292be87606
7:40027512 CDK13 C>T	7	40027512	40027512	C	T	CDK13	c.1526C>T	NM_003718.5	NP_003709.3:p.(Thr509Ile)	NC_000007.13:g.40027512C>T	(Likely) benign	1 lab	292c07e9ac
11:103026053 DYNC2H1 G>T	11	103026053	103026053	G	T	DYNC2H1	c.3574-7G>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103026053G>T	(Likely) benign	1 lab	292c4c7142
1:160092982 ATP1A2 C>T	1	160092982	160092982	C	T	ATP1A2				NC_000001.10:g.160092982C>T	(Likely) benign	1 lab	1ca140e9b4
14:64497729 SYNE2 C>T	14	64497729	64497729	C	T	SYNE2	c.6880-5C>T	NM_182914.3	NP_878918.2:p.?	NC_000014.8:g.64497729C>T	(Likely) benign	1 lab	292cbc2a5e
2:120003210 STEAP3 C>G	2	120003210	120003210	C	G	STEAP3	c.168C>G	NM_182915.3	NP_878919.2:p.(Arg56=)	NC_000002.11:g.120003210C>G	(Likely) benign	1 lab	292daeb07f
2:216240361 FN1 C>T	2	216240361	216240361	C	T	FN1	c.5968G>A	NM_212482.4	NP_997647.2:p.(Ala1990Thr)	NC_000002.11:g.216240361C>T	VUS	1 lab	292dd41ba3
21:34922537 SON A>G	21	34922537	34922537	A	G	SON	c.1000A>G	NM_138927.4	NP_620305.3:p.(Ile334Val)	NC_000021.8:g.34922537A>G	(Likely) benign	1 lab	292f519cb8
11:1462110 BRSK2 TC>T	11	1462110	1462112	TC	T	BRSK2	c.367del	NM_001256627.2	NP_001243556.1:p.(Arg123GlyfsTer20)	NC_000011.9:g.1462112del	(Likely) pathogenic	1 lab	293081fc36
17:60064462 MED13 C>T	17	60064462	60064462	C	T	MED13	c.2291G>A	NM_005121.3	NP_005112.2:p.(Arg764His)	NC_000017.10:g.60064462C>T	(Likely) benign	1 lab	29315d327a
19:51169534 SHANK1 G>C	19	51169534	51169534	G	C	SHANK1	c.5683C>G	NM_016148.5	NP_057232.2:p.(Arg1895Gly)	NC_000019.9:g.51169534G>C	(Likely) benign	1 lab	293177b3bb
1:39909104 MACF1 C>CT	1	39909104	39909109	C	CT	MACF1	c.13126-9dup	NM_012090.5	NP_036222.3:p.?	NC_000001.10:g.39909109dup	(Likely) benign	1 lab	1c43e3e04d
14:77492190 IRF2BPL G>A	14	77492190	77492190	G	A	IRF2BPL	c.1946C>T	NM_024496.4	NP_078772.1:p.(Thr649Ile)	NC_000014.8:g.77492190G>A	(Likely) benign	1 lab	1c45b68197
X:24329896 SUPT20HL2 CAGCAGG>C	X	24329896	24329925	CAGCAGG	C	SUPT20HL2	c.1531_1536del	NM_001136233.3	NP_001129705.3:p.(Pro511_Ala512del)	NC_000023.10:g.24329920_24329925del	VUS	1 lab	2934d968b8
1:182992925 LAMC1 C>T	1	182992925	182992925	C	T	LAMC1	c.74C>T	NM_002293.4	NP_002284.3:p.(Ala25Val)	NC_000001.10:g.182992925C>T	(Likely) benign	1 lab	29351deae7
8:61761660 CHD7 A>C	8	61761660	61761660	A	C	CHD7	c.5351A>C	NM_017780.4	NP_060250.2:p.(Asp1784Ala)	NC_000008.10:g.61761660A>C	VUS	1 lab	29385a980d
9:12702272 TYRP1 C>T	9	12702272	12702272	C	T	TYRP1	c.915C>T	NM_000550.3	NP_000541.1:p.(Ser305=)	NC_000009.11:g.12702272C>T	VUS	1 lab	29385fef95
8:145738278 RECQL4 C>T	8	145738278	145738278	C	T	RECQL4	c.2707G>A	NM_004260.4	NP_004251.4:p.(Ala903Thr)	NC_000008.10:g.145738278C>T	VUS	1 lab	293ad14c1e
19:13135946 NFIX C>G	19	13135946	13135946	C	G	NFIX	c.139C>G	NM_001365902.3	NP_001352831.1:p.(Arg47Gly)	NC_000019.9:g.13135946C>G	VUS	1 lab	293c781cba
6:33134839 COL11A2 T>TC	6	33134839	33134840	T	TC	COL11A2	c.4230+7dup	NM_080680.3	NP_542411.2:p.?	NC_000006.11:g.33134840dup	(Likely) benign	1 lab	293e8a8a79
5:126667119 MEGF10 A>G	5	126667119	126667119	A	G	MEGF10	c.116+3A>G	NM_001256545.2	NP_001243474.1:p.?	NC_000005.9:g.126667119A>G	VUS	1 lab	293ecb1304
3:145828110 PLOD2 G>T	3	145828110	145828110	G	T	PLOD2	c.464C>A	NM_182943.3	NP_891988.1:p.(Pro155His)	NC_000003.11:g.145828110G>T	VUS	1 lab	293efcabd2
15:89402146 ACAN G>A	15	89402146	89402146	G	A	ACAN	c.6330G>A	NM_001369268.1	NP_001356197.1:p.(Gly2110=)	NC_000015.9:g.89402146G>A	(Likely) benign	1 lab	293fc0cce4
3:105400413 CBLB G>A	3	105400413	105400413	G	A	CBLB	c.2338C>T	NM_170662.5	NP_733762.2:p.(Pro780Ser)	NC_000003.11:g.105400413G>A	VUS	1 lab	294042cf9f
14:63416874 KCNH5 G>A	14	63416874	63416874	G	A	KCNH5	c.1346C>T	NM_139318.5	NP_647479.2:p.(Ser449Leu)	NC_000014.8:g.63416874G>A	VUS	1 lab	29411d8e09
11:68704239 IGHMBP2 A>G	11	68704239	68704239	A	G	IGHMBP2	c.2291A>G	NM_002180.3	NP_002171.2:p.(Glu764Gly)	NC_000011.9:g.68704239A>G	VUS	1 lab	2943f98bc5
5:38493858 LIFR T>A	5	38493858	38493858	T	A	LIFR	c.1915A>T	NM_001127671.2	NP_001121143.1:p.(Met639Leu)	NC_000005.9:g.38493858T>A	(Likely) benign	1 lab	2945a1f1ea
15:42703180 CAPN3 A>C	15	42703180	42703180	A	C	CAPN3	c.2362A>C	NM_000070.3	NP_000061.1:p.(Arg788=)	NC_000015.9:g.42703180A>C	(Likely) pathogenic	1 lab	2945c55ab3
15:83335498 AP3B2 C>T	15	83335498	83335498	C	T	AP3B2	c.1852+1G>A	NM_001278512.2	NP_001265441.1:p.?	NC_000015.9:g.83335498C>T	VUS	1 lab	294830266c
16:21215620 ZP2 G>A	16	21215620	21215620	G	A	ZP2	c.790+9C>T	NM_001376232.1	NP_001363161.1:p.?	NC_000016.9:g.21215620G>A	(Likely) benign	1 lab	294901600e
15:99500500 IGF1R G>A	15	99500500	99500500	G	A	IGF1R	c.3933G>A	NM_000875.5	NP_000866.1:p.(Ser1311=)	NC_000015.9:g.99500500G>A	(Likely) benign	1 lab	294a927f8a
2:179500725 TTN T>C	2	179500725	179500725	T	C	TTN	c.41573A>G	NM_001267550.2	NP_001254479.2:p.(Asn13858Ser)	NC_000002.11:g.179500725T>C	(Likely) benign	1 lab	294b746b06
18:55359082 ATP8B1 T>C	18	55359082	55359082	T	C	ATP8B1	c.1177A>G	NM_001374385.1	NP_001361314.1:p.(Ile393Val)	NC_000018.9:g.55359082T>C	(Likely) benign	1 lab	294d9d9e53
4:997829 IDUA C>T	4	997829	997829	C	T	IDUA	c.1757C>T	NM_000203.5	NP_000194.2:p.(Ser586Phe)	NC_000004.11:g.997829C>T	VUS	1 lab	294e8fcca5
9:131721411 NUP188 A>C	9	131721411	131721411	A	C	NUP188	c.583A>C	NM_015354.3	NP_056169.1:p.(Met195Leu)	NC_000009.11:g.131721411A>C	(Likely) benign	1 lab	294ea4e425
15:62942343 TLN2 C>A	15	62942343	62942343	C	A	TLN2	c.197C>A	NM_015059.3	NP_055874.2:p.(Ala66Glu)	NC_000015.9:g.62942343C>A	VUS	1 lab	294f9d794f
3:49568298 DAG1 G>A	3	49568298	49568298	G	A	DAG1	c.354G>A	NM_004393.6	NP_004384.5:p.(Glu118=)	NC_000003.11:g.49568298G>A	(Likely) benign	1 lab	295362d3a4
12:23908917 SOX5 T>G	12	23908917	23908917	T	G	SOX5	c.482-259A>C	NM_006940.6	NP_008871.3:p.?	NC_000012.11:g.23908917T>G	(Likely) benign	1 lab	2954aa8571
16:28884028 SH2B1 TGAGCAGAGC>T	16	28884028	28884037	TGAGCAGAGC	T	SH2B1	c.1897+3_1897+11del	NM_001387430.1	NP_001374359.1:p.?	NC_000016.9:g.28884029_28884037del	VUS	1 lab	295588ac88
2:33820682 FAM98A C>G	2	33820682	33820682	C	G	FAM98A	c.76G>C	NM_015475.5	NP_056290.3:p.(Asp26His)	NC_000002.11:g.33820682C>G	VUS	1 lab	2956114c8f
12:120652768 PXN C>T	12	120652768	120652768	C	T	PXN	c.2608G>A	NM_001385981.1	NP_001372910.1:p.(Glu870Lys)	NC_000012.11:g.120652768C>T	VUS	1 lab	295645e5ee
3:108287148 CIP2A G>C	3	108287148	108287148	G	C	CIP2A	c.1127C>G	NM_020890.3	NP_065941.2:p.(Ala376Gly)	NC_000003.11:g.108287148G>C	VUS	1 lab	2956cf57fa
10:99358610 HOGA1 G>A	10	99358610	99358610	G	A	HOGA1	c.290G>A	NM_138413.4	NP_612422.2:p.(Arg97His)	NC_000010.10:g.99358610G>A	(Likely) pathogenic	1 lab	29581a3fa1
1:246720759 TFB2M T>C	1	246720759	246720759	T	C	TFB2M	c.480A>G	NM_022366.3	NP_071761.1:p.(Gly160=)	NC_000001.10:g.246720759T>C	(Likely) benign	1 lab	295891a902
20:43047091 HNF4A C>T	20	43047091	43047091	C	T	HNF4A	c.675C>T	NM_000457.5	NP_000448.3:p.(Gly225=)	NC_000020.10:g.43047091C>T	(Likely) benign	1 lab	295a0612cb
12:116445405 MED13L C>A	12	116445405	116445405	C	A	MED13L	c.2049G>T	NM_015335.5	NP_056150.1:p.(Trp683Cys)	NC_000012.11:g.116445405C>A	(Likely) benign	1 lab	295c46d731
21:44483166 CBS C>T	21	44483166	44483166	C	T	CBS	c.851G>A	NM_000071.3	NP_000062.1:p.(Gly284Glu)	NC_000021.8:g.44483166C>T	VUS	1 lab	295c981c85
7:142571470 TRPV6 C>T	7	142571470	142571470	C	T	TRPV6	c.1640-1G>A	NM_018646.6	NP_061116.5:p.?	NC_000007.13:g.142571470C>T	VUS	1 lab	295da2fb66
6:44272859 AARS2 C>T	6	44272859	44272859	C	T	AARS2	c.1511G>A	NM_020745.4	NP_065796.2:p.(Arg504His)	NC_000006.11:g.44272859C>T	VUS	1 lab	295eada4e7
X:48759674 PQBP1 A>G	X	48759674	48759674	A	G	PQBP1	c.457A>G	NM_001032382.2	NP_001027554.1:p.(Arg153Gly)	NC_000023.10:g.48759674A>G	(Likely) benign	1 lab	295efb7921
2:86266569 POLR1A T>C	2	86266569	86266569	T	C	POLR1A	c.3757A>G	NM_015425.6	NP_056240.2:p.(Met1253Val)	NC_000002.11:g.86266569T>C	VUS	1 lab	296145fe85
11:45948372 LARGE2 A>AC	11	45948372	45948379	A	AC	LARGE2	c.1282dup	NM_001300721.2	NP_001287650.1:p.(Arg428ProfsTer68)	NC_000011.9:g.45948379dup	VUS	1 lab	2961c09dfb
17:8397120 MYH10 C>G	17	8397120	8397120	C	G	MYH10	c.4140G>C	NM_001256012.3	NP_001242941.1:p.(Gln1380His)	NC_000017.10:g.8397120C>G	(Likely) benign	1 lab	2961f3f49d
6:51910931 PKHD1 G>C	6	51910931	51910931	G	C	PKHD1	c.2463C>G	NM_138694.4	NP_619639.3:p.(Ala821=)	NC_000006.11:g.51910931G>C	(Likely) benign	1 lab	1caaf0969e
22:38512127 PLA2G6 G>A	22	38512127	38512127	G	A	PLA2G6	c.1834C>T	NM_003560.4	NP_003551.2:p.(Arg612Cys)	NC_000022.10:g.38512127G>A	VUS	1 lab	296273e61d
10:88994445 NUTM2A A>C	10	88994445	88994445	A	C	NUTM2A	c.2617A>C	NM_001099338.2	NP_001092808.1:p.(Lys873Gln)	NC_000010.10:g.88994445A>C	(Likely) benign	1 lab	296415db45
9:113231289 SVEP1 C>T	9	113231289	113231289	C	T	SVEP1	c.3091G>A	NM_153366.4	NP_699197.3:p.(Glu1031Lys)	NC_000009.11:g.113231289C>T	(Likely) benign	1 lab	2966e1e5fe
9:100459395 XPA G>A	9	100459395	100459395	G	A	XPA	c.172+8C>T	NM_000380.4	NP_000371.1:p.?	NC_000009.11:g.100459395G>A	(Likely) benign	1 lab	296746b1af
1:10699172 CASZ1 C>T	1	10699172	10699172	C	T	CASZ1	c.5107G>A	NM_001079843.3	NP_001073312.1:p.(Asp1703Asn)	NC_000001.10:g.10699172C>T	VUS	1 lab	2967c60959
19:15290984 NOTCH3 G>A	19	15290984	15290984	G	A	NOTCH3	c.3226C>T	NM_000435.3	NP_000426.2:p.(Arg1076Cys)	NC_000019.9:g.15290984G>A	(Likely) pathogenic	1 lab	2968db3021
1:160012187 KCNJ10 C>T	1	160012187	160012187	C	T	KCNJ10	c.136G>A	NM_002241.5	NP_002232.2:p.(Asp46Asn)	NC_000001.10:g.160012187C>T	VUS	1 lab	29692fba07
4:170552663 CLCN3 T>A	4	170552663	170552663	T	A	CLCN3	c.-16-4401T>A	NM_001829.4	NP_001820.2:p.?	NC_000004.11:g.170552663T>A	(Likely) benign	1 lab	2969fc4fd1
4:1206107 CTBP1 G>A	4	1206107	1206107	G	A	CTBP1	c.1211C>T	NM_001012614.2	NP_001012632.1:p.(Ala404Val)	NC_000004.11:g.1206107G>A	VUS	1 lab	296a10677c
16:2156616 PKD1 C>T	16	2156616	2156616	C	T	PKD1	c.7272G>A	NM_001009944.3	NP_001009944.3:p.(Thr2424=)	NC_000016.9:g.2156616C>T	(Likely) benign	1 lab	296a1aa838
X:24750575 POLA1 T>C	X	24750575	24750575	T	C	POLA1	c.1771+4T>C	NM_001330360.2	NP_001317289.1:p.?	NC_000023.10:g.24750575T>C	(Likely) benign	1 lab	296b066f6f
20:10386134 MKKS C>T	20	10386134	10386134	C	T	MKKS	c.1474G>A	NM_170784.3	NP_740754.1:p.(Asp492Asn)	NC_000020.10:g.10386134C>T	VUS	1 lab	296e198932
3:12977451 IQSEC1 C>G	3	12977451	12977451	C	G	IQSEC1	c.1065G>C	NM_001134382.3	NP_001127854.1:p.(Glu355Asp)	NC_000003.11:g.12977451C>G	VUS	1 lab	296e206cb8
19:47546120 NPAS1 G>A	19	47546120	47546120	G	A	NPAS1	c.1270G>A	NM_002517.4	NP_002508.2:p.(Val424Met)	NC_000019.9:g.47546120G>A	(Likely) benign	1 lab	296e696d55
2:238271942 COL6A3 A>G	2	238271942	238271942	A	G	COL6A3	c.6017T>C	NM_004369.4	NP_004360.2:p.(Leu2006Pro)	NC_000002.11:g.238271942A>G	(Likely) pathogenic	1 lab	296f8de504
14:79111529 NRXN3 C>T	14	79111529	79111529	C	T	NRXN3	c.824C>T	NM_001330195.2	NP_001317124.1:p.(Pro275Leu)	NC_000014.8:g.79111529C>T	VUS	1 lab	2972703ae3
6:146480740 GRM1 TTCTCTCTCTCTC>T	6	146480740	146480778	TTCTCTCTCTCTC	T	GRM1	c.950+34_950+45del	NM_001278064.2	NP_001264993.1:p.?	NC_000006.11:g.146480767_146480778del	(Likely) benign	1 lab	297316c190
X:8434371 VCX3B A>G	X	8434371	8434371	A	G	VCX3B	c.688A>G	NM_001001888.4	NP_001001888.3:p.(Met230Val)	NC_000023.10:g.8434371A>G	(Likely) benign	1 lab	297401e0fb
14:32142755 NUBPL C>CG	14	32142755	32142757	C	CG	NUBPL	c.490dup	NM_025152.3	NP_079428.2:p.(Ala164GlyfsTer3)	NC_000014.8:g.32142757dup	(Likely) pathogenic	1 lab	2975371625
7:94049710 COL1A2 G>A	7	94049710	94049710	G	A	COL1A2	c.2141G>A	NM_000089.4	NP_000080.2:p.(Arg714His)	NC_000007.13:g.94049710G>A	VUS	1 lab	29762ef796
14:23883018 MYH7 C>T	14	23883018	23883018	C	T	MYH7	c.5740G>A	NM_000257.4	NP_000248.2:p.(Glu1914Lys)	NC_000014.8:g.23883018C>T	(Likely) pathogenic	1 lab	1c4ac230a0
7:31918759 PDE1C T>C	7	31918759	31918759	T	C	PDE1C	c.275A>G	NM_001191057.4	NP_001177986.1:p.(Asp92Gly)	NC_000007.13:g.31918759T>C	VUS	1 lab	2977175afb
16:3814492 CREBBP GT>G	16	3814492	3814493	GT	G	CREBBP	c.3250+3228del	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3814493del	(Likely) benign	1 lab	2979fbeb3b
8:61757445 CHD7 C>T	8	61757445	61757445	C	T	CHD7	c.4873C>T	NM_017780.4	NP_060250.2:p.(Leu1625Phe)	NC_000008.10:g.61757445C>T	VUS	1 lab	297bf54074
9:135944523 CEL C>T	9	135944523	135944523	C	T	CEL	c.1163C>T	NM_001807.6	NP_001798.3:p.(Thr388Ile)	NC_000009.11:g.135944523C>T	VUS	1 lab	297cfe8d44
12:49375317 WNT1 C>T	12	49375317	49375317	C	T	WNT1	c.1007C>T	NM_005430.4	NP_005421.1:p.(Thr336Met)	NC_000012.11:g.49375317C>T	(Likely) benign	1 lab	297f5633a0
14:91633956 DGLUCY C>T	14	91633956	91633956	C	T	DGLUCY	c.257+234C>T	NM_001102368.3	NP_001095838.1:p.?	NC_000014.8:g.91633956C>T	(Likely) benign	1 lab	297f978107
3:123419751 MYLK G>A	3	123419751	123419751	G	A	MYLK	c.2564C>T	NM_053025.4	NP_444253.3:p.(Ala855Val)	NC_000003.11:g.123419751G>A	VUS	1 lab	29809ceba2
13:101710353 NALCN C>T	13	101710353	101710353	C	T	NALCN	c.4961G>A	NM_052867.4	NP_443099.1:p.(Arg1654Gln)	NC_000013.10:g.101710353C>T	(Likely) benign	1 lab	2981951235
10:61833414 ANK3 A>G	10	61833414	61833414	A	G	ANK3	c.7225T>C	NM_020987.5	NP_066267.2:p.(Ser2409Pro)	NC_000010.10:g.61833414A>G	(Likely) benign	1 lab	2981bb62ac
16:1621414 IFT140 G>A	16	1621414	1621414	G	A	IFT140	c.1646C>T	NM_014714.4	NP_055529.2:p.(Ser549Phe)	NC_000016.9:g.1621414G>A	VUS	1 lab	2982c0ba60
16:72822220 ZFHX3 A>G	16	72822220	72822220	A	G	ZFHX3	c.9955T>C	NM_006885.4	NP_008816.3:p.(Tyr3319His)	NC_000016.9:g.72822220A>G	VUS	1 lab	29834fabf0
12:103352171 PAH CGCAGCAGCAGCAGCA>C	12	103352171	103352208	CGCAGCAGCAGCAGCA	C	PAH	c.-309_-295del	NM_001354304.2	NP_001341233.1:p.?	NC_000012.11:g.103352194_103352208del	(Likely) benign	1 lab	1c4ae0dc91
6:142721726 ADGRG6 C>T	6	142721726	142721726	C	T	ADGRG6	c.1672C>T	NM_198569.3	NP_940971.2:p.(Arg558Trp)	NC_000006.11:g.142721726C>T	VUS	1 lab	29837c5543
11:76979511 GDPD4 A>G	11	76979511	76979511	A	G	GDPD4	c.698T>C	NM_182833.3	NP_878253.1:p.(Ile233Thr)	NC_000011.9:g.76979511A>G	(Likely) benign	1 lab	29840ef11f
7:143043294 CLCN1 A>G	7	143043294	143043294	A	G	CLCN1	c.2234A>G	NM_000083.3	NP_000074.3:p.(Asn745Ser)	NC_000007.13:g.143043294A>G	VUS	1 lab	29851dea21
2:173339824 ITGA6 G>C	2	173339824	173339824	G	C	ITGA6	c.1154G>C	NM_000210.4	NP_000201.2:p.(Gly385Ala)	NC_000002.11:g.173339824G>C	VUS	1 lab	29873d3ba7
19:42753491 ERF G>A	19	42753491	42753491	G	A	ERF	c.773C>T	NM_006494.4	NP_006485.2:p.(Ser258Phe)	NC_000019.9:g.42753491G>A	VUS	1 lab	29879f1467
14:23524771 CDH24 C>T	14	23524771	23524771	C	T	CDH24	c.172G>A	NM_144985.4	NP_659422.2:p.(Ala58Thr)	NC_000014.8:g.23524771C>T	(Likely) benign	1 lab	298839784a
11:94179027 MRE11 T>A	11	94179027	94179027	T	A	MRE11	c.1816A>T	NM_005591.4	NP_005582.1:p.(Arg606Trp)	NC_000011.9:g.94179027T>A	VUS	1 lab	29886abae2
14:50081074 LRR1 C>G	14	50081074	50081074	C	G	LRR1	c.1105C>G	NM_152329.4	NP_689542.2:p.(Gln369Glu)	NC_000014.8:g.50081074C>G	VUS	1 lab	29894b6f1b
2:141232865 LRP1B C>G	2	141232865	141232865	C	G	LRP1B	c.9467G>C	NM_018557.3	NP_061027.2:p.(Gly3156Ala)	NC_000002.11:g.141232865C>G	VUS	1 lab	2989f03713
1:243828083 AKT3 G>T	1	243828083	243828083	G	T	AKT3	c.275C>A	NM_005465.7	NP_005456.1:p.(Pro92Gln)	NC_000001.10:g.243828083G>T	VUS	1 lab	298c87c37d
7:134225781 AKR1B10 TTTTGTTC>T	7	134225781	134225791	TTTTGTTC	T	AKR1B10	c.909-14_909-8del	NM_020299.5	NP_064695.3:p.?	NC_000007.13:g.134225785_134225791del	(Likely) benign	1 lab	298c97b00e
8:41798772 KAT6A T>G	8	41798772	41798772	T	G	KAT6A	c.2627A>C	NM_006766.5	NP_006757.2:p.(Gln876Pro)	NC_000008.10:g.41798772T>G	(Likely) benign	1 lab	298cf0fbef
9:18889745 ADAMTSL1 C>T	9	18889745	18889745	C	T	ADAMTSL1	c.4642C>T	NM_001040272.6	NP_001035362.3:p.(Arg1548Trp)	NC_000009.11:g.18889745C>T	VUS	1 lab	298dc2d66d
8:41794799 KAT6A T>A	8	41794799	41794799	T	A	KAT6A	c.3327A>T	NM_006766.5	NP_006757.2:p.(Glu1109Asp)	NC_000008.10:g.41794799T>A	(Likely) benign	1 lab	298e40ce4a
14:50626628 SOS2 T>C	14	50626628	50626628	T	C	SOS2	c.1373A>G	NM_006939.4	NP_008870.2:p.(His458Arg)	NC_000014.8:g.50626628T>C	VUS	1 lab	298e82e9d6
1:15771250 CTRC A>C	1	15771250	15771250	A	C	CTRC	c.639+4A>C	NM_007272.3	NP_009203.2:p.?	NC_000001.10:g.15771250A>C	VUS	1 lab	1c4cd34790
X:76882682 ATRX G>A	X	76882682	76882682	G	A	ATRX	c.5134+6013C>T	NM_000489.6	NP_000480.3:p.?	NC_000023.10:g.76882682G>A	(Likely) benign	1 lab	298fe22dc9
21:45746115 PFKL C>A	21	45746115	45746115	C	A	PFKL	c.2163C>A	NM_002626.6	NP_002617.3:p.(Pro721=)	NC_000021.8:g.45746115C>A	(Likely) benign	1 lab	299070d8d0
16:1841532 IGFALS C>T	16	1841532	1841532	C	T	IGFALS	c.887G>A	NM_004970.3	NP_004961.1:p.(Arg296Gln)	NC_000016.9:g.1841532C>T	VUS	1 lab	2990acc5f2
11:73768586 C2CD3 C>T	11	73768586	73768586	C	T	C2CD3	c.4955G>A	NM_001286577.2	NP_001273506.1:p.(Ser1652Asn)	NC_000011.9:g.73768586C>T	VUS	1 lab	299148bba5
18:10807243 PIEZO2 G>T	18	10807243	10807243	G	T	PIEZO2	c.947C>A	NM_001378183.1	NP_001365112.1:p.(Thr316Lys)	NC_000018.9:g.10807243G>T	VUS	1 lab	29917bf455
18:55338798 ATP8B1 C>T	18	55338798	55338798	C	T	ATP8B1	c.1834G>A	NM_001374385.1	NP_001361314.1:p.(Gly612Ser)	NC_000018.9:g.55338798C>T	VUS	1 lab	29919689bc
3:197403844 RUBCN T>C	3	197403844	197403844	T	C	RUBCN	c.2558A>G	NM_014687.4	NP_055502.1:p.(Asn853Ser)	NC_000003.11:g.197403844T>C	(Likely) benign	1 lab	2992a09a88
20:49366567 PARD6B A>G	20	49366567	49366567	A	G	PARD6B	c.661A>G	NM_032521.3	NP_115910.1:p.(Ile221Val)	NC_000020.10:g.49366567A>G	VUS	1 lab	2992dbb1e6
8:104664455 RIMS2 CA>C	8	104664455	104664457	CA	C	RIMS2	c.201del	NM_001348484.3	NP_001335413.1:p.(Gln67HisfsTer2)	NC_000008.10:g.104664457del	VUS	1 lab	2993824e7b
15:75653998 MAN2C1 T>A	15	75653998	75653998	T	A	MAN2C1	c.1165A>T	NM_006715.4	NP_006706.2:p.(Ile389Phe)	NC_000015.9:g.75653998T>A	VUS	1 lab	2993b3c44a
2:108499318 RGPD4 C>T	2	108499318	108499318	C	T	RGPD4	c.5255C>T	NM_182588.3	NP_872394.2:p.(Ala1752Val)	NC_000002.11:g.108499318C>T	VUS	1 lab	2993bde182
3:48623385 COL7A1 C>T	3	48623385	48623385	C	T	COL7A1	c.3747G>A	NM_000094.4	NP_000085.1:p.(Val1249=)	NC_000003.11:g.48623385C>T	(Likely) benign	1 lab	1c512bd6d1
2:166905458 SCN1A T>C	2	166905458	166905458	T	C	SCN1A	c.966A>G	NM_001165963.4	NP_001159435.1:p.(Arg322=)	NC_000002.11:g.166905458T>C	(Likely) benign	1 lab	299531f010
12:115120945 TBX3 G>A	12	115120945	115120945	G	A	TBX3	c.61C>T	NM_005996.4	NP_005987.3:p.(Leu21=)	NC_000012.11:g.115120945G>A	(Likely) benign	1 lab	29954d6736
16:88782247 PIEZO1 G>A	16	88782247	88782247	G	A	PIEZO1	c.7332C>T	NM_001142864.4	NP_001136336.2:p.(Tyr2444=)	NC_000016.9:g.88782247G>A	(Likely) benign	1 lab	29966326a9
7:114282573 FOXP2 A>G	7	114282573	114282573	A	G	FOXP2	c.884A>G	NM_014491.4	NP_055306.1:p.(Asn295Ser)	NC_000007.13:g.114282573A>G	(Likely) benign	1 lab	2996bb4ba3
3:15471471 EAF1 T>C	3	15471471	15471471	T	C	EAF1	c.155T>C	NM_033083.7	NP_149074.3:p.(Val52Ala)	NC_000003.11:g.15471471T>C	VUS	1 lab	2997b8498d
1:6185175 CHD5 C>A	1	6185175	6185175	C	A	CHD5	c.4379G>T	NM_015557.3	NP_056372.1:p.(Ser1460Ile)	NC_000001.10:g.6185175C>A	(Likely) benign	1 lab	299902bdd6
14:105414274 AHNAK2 G>A	14	105414274	105414274	G	A	AHNAK2	c.7514C>T	NM_138420.4	NP_612429.2:p.(Ser2505Leu)	NC_000014.8:g.105414274G>A	VUS	1 lab	29992f7352
7:73474232 ELN CGGCGTGGCTCCTGGAGTT>C	7	73474232	73474264	CGGCGTGGCTCCTGGAGTT	C	ELN	c.1446_1463del	NM_000501.4	NP_000492.2:p.(Val491_Gly496del)	NC_000007.13:g.73474247_73474264del	VUS	1 lab	299ab56c2d
20:57484611 GNAS G>A	20	57484611	57484611	G	A	GNAS	c.695G>A	NM_000516.7	NP_000507.1:p.(Arg232His)	NC_000020.10:g.57484611G>A	VUS	1 lab	2ba1331dd9
14:58958866 KIAA0586 A>C	14	58958866	58958866	A	C	KIAA0586	c.3863A>C	NM_001329943.3	NP_001316872.1:p.(Asp1288Ala)	NC_000014.8:g.58958866A>C	VUS	1 lab	299b2f87e2
1:160104925 ATP1A2 C>T	1	160104925	160104925	C	T	ATP1A2	c.1965-10C>T	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160104925C>T	(Likely) benign	1 lab	299d0605c5
X:69496583 ARR3 A>G	X	69496583	69496583	A	G	ARR3	c.470A>G	NM_004312.3	NP_004303.2:p.(Lys157Arg)	NC_000023.10:g.69496583A>G	(Likely) benign	1 lab	299f009c19
4:103808533 CISD2 T>C	4	103808533	103808533	T	C	CISD2	c.354T>C	NM_001008388.5	NP_001008389.1:p.(Asn118=)	NC_000004.11:g.103808533T>C	(Likely) benign	1 lab	299f3665b6
17:1373558 MYO1C G>A	17	1373558	1373558	G	A	MYO1C	c.2437C>T	NM_001080779.2	NP_001074248.1:p.(Arg813Cys)	NC_000017.10:g.1373558G>A	VUS	1 lab	299fcdd19f
7:40127722 CDK13 C>T	7	40127722	40127722	C	T	CDK13	c.3030-3C>T	NM_003718.5	NP_003709.3:p.?	NC_000007.13:g.40127722C>T	(Likely) benign	1 lab	29a1dcf3fd
10:75865055 VCL C>A	10	75865055	75865055	C	A	VCL	c.2378C>A	NM_014000.3	NP_054706.1:p.(Thr793Asn)	NC_000010.10:g.75865055C>A	VUS	1 lab	29a20494b9
15:33920732 RYR3 C>T	15	33920732	33920732	C	T	RYR3	c.2635C>T	NM_001036.6	NP_001027.3:p.(Leu879Phe)	NC_000015.9:g.33920732C>T	VUS	1 lab	29a2355b5a
X:57619523 ZXDB G>A	X	57619523	57619523	G	A	ZXDB	c.1042G>A	NM_007157.4	NP_009088.1:p.(Val348Met)	NC_000023.10:g.57619523G>A	(Likely) benign	1 lab	29a3d626b8
1:120510250 NOTCH2 A>C	1	120510250	120510250	A	C	NOTCH2	c.1265-6T>G	NM_024408.4	NP_077719.2:p.?	NC_000001.10:g.120510250A>C	(Likely) benign	1 lab	29a61e8bba
1:11194521 MTOR G>A	1	11194521	11194521	G	A	MTOR	c.5133C>T	NM_004958.4	NP_004949.1:p.(Ile1711=)	NC_000001.10:g.11194521G>A	(Likely) benign	1 lab	29a6749b1f
2:220370723 GMPPA G>A	2	220370723	220370723	G	A	GMPPA	c.922G>A	NM_013335.4	NP_037467.2:p.(Gly308Arg)	NC_000002.11:g.220370723G>A	VUS	1 lab	29a6c8d9ed
22:29085120 CHEK2 T>C	22	29085120	29085120	T	C	CHEK2	c.1542+3A>G	NM_007194.4	NP_009125.1:p.?	NC_000022.10:g.29085120T>C	VUS	1 lab	29a9608815
11:118392684 KMT2A C>T	11	118392684	118392684	C	T	KMT2A	c.11716C>T	NM_001197104.2	NP_001184033.1:p.(Arg3906Cys)	NC_000011.9:g.118392684C>T	VUS	1 lab	29abcd9125
X:55116478 PAGE2 T>A	X	55116478	55116478	T	A	PAGE2	c.25T>A	NM_207339.4	NP_997222.1:p.(Ser9Thr)	NC_000023.10:g.55116478T>A	VUS	1 lab	29ac72bc60
11:17424278 ABCC8 T>C	11	17424278	17424278	T	C	ABCC8	c.3580A>G	NM_000352.6	NP_000343.2:p.(Thr1194Ala)	NC_000011.9:g.17424278T>C	VUS	1 lab	29adb5a0dc
16:51175643 SALL1 T>TGCC	16	51175643	51175657	T	TGCC	SALL1	c.196_198dup	NM_001127892.2	NP_001121364.1:p.(Gly66dup)	NC_000016.9:g.51175655_51175657dup	VUS	1 lab	1c539ef8fd
15:89414680 ACAN C>T	15	89414680	89414680	C	T	ACAN	c.7128C>T	NM_001369268.1	NP_001356197.1:p.(Arg2376=)	NC_000015.9:g.89414680C>T	(Likely) benign	1 lab	29ae2baadf
15:90210919 PLIN1 C>T	15	90210919	90210919	C	T	PLIN1	c.877G>A	NM_002666.5	NP_002657.3:p.(Glu293Lys)	NC_000015.9:g.90210919C>T	(Likely) benign	1 lab	29ae43f5cc
21:34907024 GART A>T	21	34907024	34907024	A	T	GART	c.277T>A	NM_000819.5	NP_000810.1:p.(Cys93Ser)	NC_000021.8:g.34907024A>T	(Likely) benign	1 lab	29aeb11d06
12:38710771 ALG10B G>C	12	38710771	38710771	G	C	ALG10B	c.76G>C	NM_001013620.4	NP_001013642.2:p.(Ala26Pro)	NC_000012.11:g.38710771G>C	(Likely) benign	1 lab	29afb5741e
5:131719981 SLC22A5 G>T	5	131719981	131719981	G	T	SLC22A5	c.640G>T	NM_003060.4	NP_003051.1:p.(Ala214Ser)	NC_000005.9:g.131719981G>T	VUS	1 lab	29b16780e9
19:2917238 ZNF57 CA>C	19	2917238	2917239	CA	C	ZNF57	c.620del	NM_173480.3	NP_775751.1:p.(His207LeufsTer9)	NC_000019.9:g.2917239del	VUS	1 lab	29b374b478
4:103611874 MANBA C>G	4	103611874	103611874	C	G	MANBA	c.728G>C	NM_005908.4	NP_005899.3:p.(Ser243Thr)	NC_000004.11:g.103611874C>G	(Likely) benign	1 lab	29b3c9093b
19:36213909 KMT2B C>T	19	36213909	36213909	C	T	KMT2B	c.2735C>T	NM_014727.3	NP_055542.1:p.(Ala912Val)	NC_000019.9:g.36213909C>T	(Likely) benign	1 lab	29b42d164b
1:201172858 IGFN1 G>A	1	201172858	201172858	G	A	IGFN1	c.748-8G>A	NM_001164586.2	NP_001158058.1:p.?	NC_000001.10:g.201172858G>A	VUS	1 lab	29b49e2f1e
5:67575522 PIK3R1 C>T	5	67575522	67575522	C	T	PIK3R1	c.595C>T	NM_181523.3	NP_852664.1:p.(Pro199Ser)	NC_000005.9:g.67575522C>T	VUS	1 lab	29b51ed67c
3:12641301 RAF1 G>C	3	12641301	12641301	G	C	RAF1	c.997C>G	NM_002880.4	NP_002871.1:p.(Arg333Gly)	NC_000003.11:g.12641301G>C	VUS	1 lab	1c57303853
8:22069194 BMP1 C>T	8	22069194	22069194	C	T	BMP1	c.2914C>T	NM_006129.5	NP_006120.1:p.(Arg972Ter)	NC_000008.10:g.22069194C>T	VUS	1 lab	29b582aae7
12:113836540 SDS T>G	12	113836540	113836540	T	G	SDS	c.305A>C	NM_006843.3	NP_006834.2:p.(Glu102Ala)	NC_000012.11:g.113836540T>G	VUS	1 lab	29b5b36587
8:113358368 CSMD3 T>A	8	113358368	113358368	T	A	CSMD3	c.6400A>T	NM_198123.2	NP_937756.1:p.(Ser2134Cys)	NC_000008.10:g.113358368T>A	VUS	1 lab	29b711f555
16:89259918 CDH15 G>C	16	89259918	89259918	G	C	CDH15	c.1896G>C	NM_004933.3	NP_004924.1:p.(Lys632Asn)	NC_000016.9:g.89259918G>C	(Likely) benign	1 lab	29b7868660
1:230415077 GALNT2 A>G	1	230415077	230415077	A	G	GALNT2	c.1589A>G	NM_004481.5	NP_004472.1:p.(Lys530Arg)	NC_000001.10:g.230415077A>G	(Likely) benign	1 lab	29ba31a4ca
19:15227253 HACL2 G>A	19	15227253	15227253	G	A	HACL2	c.1267C>T	NM_006844.5	NP_006835.2:p.(Arg423Trp)	NC_000019.9:g.15227253G>A	(Likely) benign	1 lab	29ba5da3a8
20:10628643 JAG1 T>C	20	10628643	10628643	T	C	JAG1	c.1685A>G	NM_000214.3	NP_000205.1:p.(His562Arg)	NC_000020.10:g.10628643T>C	VUS	1 lab	29ba73aedf
10:131640542 EBF3 G>A	10	131640542	131640542	G	A	EBF3	c.1210C>T	NM_001375380.1	NP_001362309.1:p.(Arg404Ter)	NC_000010.10:g.131640542G>A	(Likely) pathogenic	1 lab	29bd175f3a
9:43627206 SPATA31A6 T>A	9	43627206	43627206	T	A	SPATA31A6	c.1481A>T	NM_001145196.1	NP_001138668.1:p.(Glu494Val)	NC_000009.11:g.43627206T>A	(Likely) benign	1 lab	29be93ceee
1:19557842 EMC1 CA>C	1	19557842	19557843	CA	C	EMC1	c.1856del	NM_015047.3	NP_055862.1:p.(Leu619ArgfsTer24)	NC_000001.10:g.19557843del	VUS	1 lab	29bf0a659a
6:44121558 TMEM63B C>T	6	44121558	44121558	C	T	TMEM63B	c.2088C>T	NM_018426.3	NP_060896.1:p.(Leu696=)	NC_000006.11:g.44121558C>T	(Likely) benign	1 lab	29c050c746
7:1587428 TMEM184A C>T	7	1587428	1587428	C	T	TMEM184A	c.962G>A	NM_001097620.2	NP_001091089.1:p.(Arg321His)	NC_000007.13:g.1587428C>T	VUS	1 lab	29c0efc2d5
5:150947486 FAT2 C>T	5	150947486	150947486	C	T	FAT2	c.1007G>A	NM_001447.3	NP_001438.1:p.(Arg336Lys)	NC_000005.9:g.150947486C>T	(Likely) benign	1 lab	29c11ddefd
3:44684768 ZNF197 A>C	3	44684768	44684768	A	C	ZNF197	c.2146A>C	NM_006991.5	NP_008922.1:p.(Ile716Leu)	NC_000003.11:g.44684768A>C	(Likely) benign	1 lab	29c12290d9
12:102173923 GNPTAB T>G	12	102173923	102173923	T	G	GNPTAB	c.771+7A>C	NM_024312.5	NP_077288.2:p.?	NC_000012.11:g.102173923T>G	(Likely) benign	1 lab	29c26340f0
X:72095112 DMRTC1 C>T	X	72095112	72095112	C	T	DMRTC1	c.118G>A	NM_033053.3	NP_149042.2:p.(Glu40Lys)	NC_000023.10:g.72095112C>T	VUS	1 lab	29c2e7484f
3:123452797 MYLK GC>G	3	123452797	123452799	GC	G	MYLK	c.1045del	NM_053025.4	NP_444253.3:p.(Ala349ProfsTer47)	NC_000003.11:g.123452799del	VUS	1 lab	29c303ca93
X:103045465 PLP1 T>C	X	103045465	103045465	T	C	PLP1	c.773T>C	NM_000533.5	NP_000524.3:p.(Met258Thr)	NC_000023.10:g.103045465T>C	VUS	1 lab	29c3133828
6:87967082 ZNF292 T>G	6	87967082	87967082	T	G	ZNF292	c.3735T>G	NM_015021.3	NP_055836.1:p.(Asp1245Glu)	NC_000006.11:g.87967082T>G	VUS	1 lab	29d20aca41
10:28142257 ODAD2 ACTGCACTCTAGC>A	10	28142257	28142272	ACTGCACTCTAGC	A	ODAD2	c.3021+7285_3021+7296del	NM_018076.5	NP_060546.2:p.?	NC_000010.10:g.28142261_28142272del	VUS	1 lab	29c3e10b4e
2:216296654 FN1 A>G	2	216296654	216296654	A	G	FN1	c.449T>C	NM_212482.4	NP_997647.2:p.(Ile150Thr)	NC_000002.11:g.216296654A>G	VUS	1 lab	29c4c9b795
7:141752759 MGAM A>G	7	141752759	141752759	A	G	MGAM	c.3134A>G	NM_001365693.1	NP_001352622.1:p.(His1045Arg)	NC_000007.13:g.141752759A>G	VUS	1 lab	29c6628589
15:75664522 SIN3A T>C	15	75664522	75664522	T	C	SIN3A	c.3620A>G	NM_001145358.2	NP_001138830.1:p.(His1207Arg)	NC_000015.9:g.75664522T>C	(Likely) benign	1 lab	29c8f72454
1:6166828 CHD5 G>C	1	6166828	6166828	G	C	CHD5	c.5590C>G	NM_015557.3	NP_056372.1:p.(Leu1864Val)	NC_000001.10:g.6166828G>C	VUS	1 lab	2a9411a87a
3:129285398 PLXND1 T>C	3	129285398	129285398	T	C	PLXND1	c.4163A>G	NM_015103.3	NP_055918.3:p.(Glu1388Gly)	NC_000003.11:g.129285398T>C	VUS	1 lab	29e16132cd
11:89820109 UBTFL1 AGGG>A	11	89820109	89820112	AGGG	A	UBTFL1	c.993_995del	NM_001143975.1	NP_001137447.1:p.(Lys331_Gly332delinsAsn)	NC_000011.9:g.89820110_89820112del	(Likely) benign	1 lab	29c94982f3
1:155227416 SCAMP3 C>T	1	155227416	155227416	C	T	SCAMP3	c.550G>A	NM_005698.4	NP_005689.2:p.(Ala184Thr)	NC_000001.10:g.155227416C>T	VUS	1 lab	29ca10a1e0
19:15131394 TEKTL1 A>G	19	15131394	15131394	A	G	TEKTL1	c.797A>G	NM_173482.3	NP_775753.2:p.(Asn266Ser)	NC_000019.9:g.15131394A>G	VUS	1 lab	29cad6dbc1
17:42925539 HIGD1B T>C	17	42925539	42925539	T	C	HIGD1B	c.19T>C	NM_016438.4	NP_057522.1:p.(Trp7Arg)	NC_000017.10:g.42925539T>C	VUS	1 lab	29cc53e197
22:32160999 DEPDC5 C>T	22	32160999	32160999	C	T	DEPDC5	c.232C>T	NM_001242896.3	NP_001229825.1:p.(Arg78Trp)	NC_000022.10:g.32160999C>T	VUS	1 lab	29cc9f8326
16:2141049 PKD1 C>CCGCCGTCAG	16	2141049	2141062	C	CCGCCGTCAG	PKD1	c.11830_11838dup	NM_001009944.3	NP_001009944.3:p.(Leu3944_Ala3946dup)	NC_000016.9:g.2141054_2141062dup	(Likely) pathogenic	1 lab	29cd1ba9b3
11:45950260 LARGE2 G>A	11	45950260	45950260	G	A	LARGE2	c.2030G>A	NM_001300721.2	NP_001287650.1:p.(Arg677His)	NC_000011.9:g.45950260G>A	(Likely) benign	1 lab	29ce9ebe64
9:98270206 PTCH1 A>G	9	98270206	98270206	A	G	PTCH1	c.201+237T>C	NM_000264.5	NP_000255.2:p.?	NC_000009.11:g.98270206A>G	VUS	1 lab	29cf6c36ac
6:131917109 MED23 T>TA	6	131917109	131917110	T	TA	MED23	c.2972dup	NM_004830.4	NP_004821.2:p.(Gly992ArgfsTer5)	NC_000006.11:g.131917110dup	VUS	1 lab	29d39e8965
11:17428424 ABCC8 G>A	11	17428424	17428424	G	A	ABCC8	c.3162+11C>T	NM_000352.6	NP_000343.2:p.?	NC_000011.9:g.17428424G>A	(Likely) benign	1 lab	29d4a8867b
19:1468039 APC2 G>A	19	1468039	1468039	G	A	APC2	c.4739G>A	NM_005883.3	NP_005874.1:p.(Ser1580Asn)	NC_000019.9:g.1468039G>A	(Likely) benign	1 lab	29e1768677
1:161007782 TSTD1 C>T	1	161007782	161007782	C	T	TSTD1	c.217G>A	NM_001113207.2	NP_001106678.1:p.(Glu73Lys)	NC_000001.10:g.161007782C>T	VUS	1 lab	29e22f6cb4
5:138658658 MATR3 T>TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC	5	138658658	138658659	T	TGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC	MATR3	c.2148+2_2148+3insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC	NM_018834.6	NP_061322.2:p.?	NC_000005.9:g.138658658_138658659insGGACAAGATCGAGGAACTTGATCAAGAAAACGAAGCAGCGTTGGAAAATGGAATTAAAAATGAGGAAAACACAGAACCAGGTGCTGAATCTTCTGAGAACGCTGATGATCCCAAC	VUS	1 lab	29d61044f8
11:46342083 CREB3L1 G>GGTGTGTGGCCCCTTT	11	46342083	46342085	G	GGTGTGTGGCCCCTTT	CREB3L1	c.1523+5_1523+6insTGTGTGGCCCCTTTG	NM_052854.4	NP_443086.1:p.?	NC_000011.9:g.46342084_46342085insTGTGTGGCCCCTTTG	VUS	1 lab	29d7802b28
17:79477868 ACTG1 A>C	17	79477868	79477868	A	C	ACTG1	c.985-9T>G	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79477868A>C	(Likely) benign	1 lab	29d88ea12e
20:62839534 MYT1 C>T	20	62839534	62839534	C	T	MYT1	c.985C>T	NM_004535.3	NP_004526.1:p.(Arg329Trp)	NC_000020.10:g.62839534C>T	VUS	1 lab	29d97bb1b9
1:44202078 ST3GAL3 C>T	1	44202078	44202078	C	T	ST3GAL3	c.118+27C>T	NM_006279.5	NP_006270.1:p.?	NC_000001.10:g.44202078C>T	(Likely) benign	1 lab	29da580334
17:7487236 MPDU1 C>T	17	7487236	7487236	C	T	MPDU1	c.56C>T	NM_004870.4	NP_004861.2:p.(Pro19Leu)	NC_000017.10:g.7487236C>T	VUS	1 lab	29da5b64db
11:65416753 SIPA1 C>T	11	65416753	65416753	C	T	SIPA1	c.2327C>T	NM_006747.4	NP_006738.3:p.(Thr776Met)	NC_000011.9:g.65416753C>T	(Likely) benign	1 lab	29dbd99519
12:7842829 GDF3 C>T	12	7842829	7842829	C	T	GDF3	c.740G>A	NM_020634.3	NP_065685.1:p.(Arg247Gln)	NC_000012.11:g.7842829C>T	VUS	1 lab	29e059739c
11:17491732 ABCC8 CTGGCATGTACAGGTGCAGA>C	11	17491732	17491754	CTGGCATGTACAGGTGCAGA	C	ABCC8	c.309_327del	NM_000352.6	NP_000343.2:p.(His103GlnfsTer28)	NC_000011.9:g.17491736_17491754del	(Likely) pathogenic	1 lab	29e090974c
X:12738809 FRMPD4 A>G	X	12738809	12738809	A	G	FRMPD4	c.4121A>G	NM_001368397.1	NP_001355326.1:p.(Gln1374Arg)	NC_000023.10:g.12738809A>G	VUS	1 lab	29e0ea4ce5
2:73676034 ALMS1 G>T	2	73676034	73676034	G	T	ALMS1	c.2380G>T	NM_001378454.1	NP_001365383.1:p.(Ala794Ser)	NC_000002.11:g.73676034G>T	(Likely) benign	1 lab	29e25c004b
2:153476068 FMNL2 C>CA	2	153476068	153476069	C	CA	FMNL2	c.1673_1674insA	NM_052905.4	NP_443137.2:p.(Pro560SerfsTer21)	NC_000002.11:g.153476068_153476069insA	VUS	1 lab	29e275fbfa
1:40773898 COL9A2 C>T	1	40773898	40773898	C	T	COL9A2	c.866G>A	NM_001852.4	NP_001843.1:p.(Gly289Glu)	NC_000001.10:g.40773898C>T	VUS	1 lab	29e2776dfd
X:107417851 COL4A6 C>A	X	107417851	107417851	C	A	COL4A6	c.2957G>T	NM_033641.4	NP_378667.1:p.(Gly986Val)	NC_000023.10:g.107417851C>A	VUS	1 lab	29e2f12482
21:33044508 SCAF4 G>A	21	33044508	33044508	G	A	SCAF4	c.2648C>T	NM_020706.2	NP_065757.1:p.(Pro883Leu)	NC_000021.8:g.33044508G>A	VUS	1 lab	29e302f684
7:48269511 ABCA13 C>T	7	48269511	48269511	C	T	ABCA13	c.722C>T	NM_152701.5	NP_689914.3:p.(Ser241Leu)	NC_000007.13:g.48269511C>T	VUS	1 lab	29e37c6c65
22:19207438 CLTCL1 C>T	22	19207438	19207438	C	T	CLTCL1	c.2875G>A	NM_007098.4	NP_009029.3:p.(Val959Ile)	NC_000022.10:g.19207438C>T	VUS	1 lab	29e3b50849
4:39293414 RFC1 G>A	4	39293414	39293414	G	A	RFC1	c.3013C>T	NM_002913.5	NP_002904.3:p.(Leu1005Phe)	NC_000004.11:g.39293414G>A	VUS	1 lab	29e3e2f499
19:7143033 INSR G>C	19	7143033	7143033	G	C	INSR	c.2336C>G	NM_000208.4	NP_000199.2:p.(Ala779Gly)	NC_000019.9:g.7143033G>C	VUS	1 lab	29e60c8222
15:28446681 HERC2 G>A	15	28446681	28446681	G	A	HERC2	c.7637C>T	NM_004667.6	NP_004658.3:p.(Thr2546Met)	NC_000015.9:g.28446681G>A	VUS	1 lab	29e60e493f
1:220379266 RAB3GAP2 C>T	1	220379266	220379266	C	T	RAB3GAP2	c.695G>A	NM_012414.4	NP_036546.2:p.(Arg232Gln)	NC_000001.10:g.220379266C>T	VUS	1 lab	29e7199582
2:239307532 TRAF3IP1 A>G	2	239307532	239307532	A	G	TRAF3IP1	c.2048A>G	NM_015650.4	NP_056465.2:p.(Tyr683Cys)	NC_000002.11:g.239307532A>G	VUS	1 lab	29e8a5a2bb
17:34842808 ZNHIT3 A>G	17	34842808	34842808	A	G	ZNHIT3	c.116A>G	NM_004773.4	NP_004764.1:p.(Lys39Arg)	NC_000017.10:g.34842808A>G	(Likely) benign	1 lab	29e96058cb
16:9857547 GRIN2A C>A	16	9857547	9857547	C	A	GRIN2A	c.3854G>T	NM_000833.5	NP_000824.1:p.(Arg1285Met)	NC_000016.9:g.9857547C>A	VUS	1 lab	1c820c6270
2:238419321 MLPH A>G	2	238419321	238419321	A	G	MLPH	c.215A>G	NM_024101.7	NP_077006.1:p.(Gln72Arg)	NC_000002.11:g.238419321A>G	(Likely) benign	1 lab	29e9921d8f
3:47163811 SETD2 T>C	3	47163811	47163811	T	C	SETD2	c.2315A>G	NM_014159.7	NP_054878.5:p.(Lys772Arg)	NC_000003.11:g.47163811T>C	(Likely) benign	1 lab	29e9df99a0
16:9923453 GRIN2A C>A	16	9923453	9923453	C	A	GRIN2A	c.1834G>T	NM_001134407.3	NP_001127879.1:p.(Val612Leu)	NC_000016.9:g.9923453C>A	VUS	1 lab	29eacd5adf
12:49722763 TROAP G>T	12	49722763	49722763	G	T	TROAP	c.945G>T	NM_005480.4	NP_005471.3:p.(Leu315Phe)	NC_000012.11:g.49722763G>T	VUS	1 lab	29eb04b558
22:25623846 CRYBB2 G>T	22	25623846	25623846	G	T	CRYBB2	c.200G>T	NM_000496.3	NP_000487.1:p.(Cys67Phe)	NC_000022.10:g.25623846G>T	(Likely) benign	1 lab	29eb6d04b6
2:74274695 TET3 C>T	2	74274695	74274695	C	T	TET3	c.1651C>T	NM_001287491.2	NP_001274420.1:p.(Pro551Ser)	NC_000002.11:g.74274695C>T	VUS	1 lab	29ecf409af
X:35820897 MAGEB16 G>T	X	35820897	35820897	G	T	MAGEB16	c.584G>T	NM_001370158.1	NP_001357087.1:p.(Ser195Ile)	NC_000023.10:g.35820897G>T	(Likely) benign	1 lab	29ed1aaca3
7:105192157 RINT1 A>T	7	105192157	105192157	A	T	RINT1	c.1471+3A>T	NM_021930.6	NP_068749.3:p.?	NC_000007.13:g.105192157A>T	(Likely) benign	1 lab	29ed6d3371
3:52540192 STAB1 G>A	3	52540192	52540192	G	A	STAB1	c.1756G>A	NM_015136.3	NP_055951.2:p.(Val586Ile)	NC_000003.11:g.52540192G>A	(Likely) benign	1 lab	29ee0df31f
15:42362241 PLA2G4D C>T	15	42362241	42362241	C	T	PLA2G4D	c.2096G>A	NM_178034.4	NP_828848.3:p.(Arg699Gln)	NC_000015.9:g.42362241C>T	VUS	1 lab	29ef3145d6
17:38787845 SMARCE1 CT>C	17	38787845	38787849	CT	C	SMARCE1	c.814del	NM_003079.5	NP_003070.3:p.(Arg272GlyfsTer5)	NC_000017.10:g.38787849del	(Likely) pathogenic	1 lab	29ef67ff3f
2:232325405 NCL CTCA>C	2	232325405	232325413	CTCA	C	NCL	c.783_785del	NM_005381.3	NP_005372.2:p.(Asp261del)	NC_000002.11:g.232325411_232325413del	VUS	1 lab	29efd1f9bd
2:179575836 TTN G>C	2	179575836	179575836	G	C	TTN	c.28127C>G	NM_001267550.2	NP_001254479.2:p.(Thr9376Arg)	NC_000002.11:g.179575836G>C	VUS	1 lab	29efdb25de
1:34258025 CSMD2 T>C	1	34258025	34258025	T	C	CSMD2	c.1549A>G	NM_001281956.2	NP_001268885.1:p.(Ile517Val)	NC_000001.10:g.34258025T>C	(Likely) benign	1 lab	29eff4227b
1:155447966 ASH1L A>C	1	155447966	155447966	A	C	ASH1L	c.4695T>G	NM_018489.3	NP_060959.2:p.(Ser1565Arg)	NC_000001.10:g.155447966A>C	VUS	1 lab	29f141daa8
17:68171569 KCNJ2 C>T	17	68171569	68171569	C	T	KCNJ2	c.389C>T	NM_000891.3	NP_000882.1:p.(Thr130Met)	NC_000017.10:g.68171569C>T	VUS	1 lab	2a015b8e6e
19:9074122 MUC16 T>TCCAGGACACATC	19	9074122	9074135	T	TCCAGGACACATC	MUC16	c.13432_13443dup	NM_001401501.2	NP_001388430.1:p.(Asp4478_Trp4481dup)	NC_000019.9:g.9074124_9074135dup	VUS	1 lab	29f25fcf12
1:182025659 ZNF648 TGTTGGTGCCG>T	1	182025659	182025669	TGTTGGTGCCG	T	ZNF648	c.1477_1486del	NM_001009992.1	NP_001009992.1:p.(His494SerfsTer120)	NC_000001.10:g.182025660_182025669del	VUS	1 lab	29f4675e3b
6:117199005 RFX6 C>T	6	117199005	117199005	C	T	RFX6	c.270C>T	NM_173560.4	NP_775831.2:p.(Ala90=)	NC_000006.11:g.117199005C>T	(Likely) benign	1 lab	29f4f6ee54
10:81050824 ZMIZ1 G>T	10	81050824	81050824	G	T	ZMIZ1	c.649G>T	NM_020338.4	NP_065071.1:p.(Ala217Ser)	NC_000010.10:g.81050824G>T	(Likely) benign	1 lab	29f5b9148d
17:74133583 FOXJ1 C>G	17	74133583	74133583	C	G	FOXJ1	c.1117G>C	NM_001454.4	NP_001445.2:p.(Asp373His)	NC_000017.10:g.74133583C>G	VUS	1 lab	29f6435624
2:240029790 HDAC4 T>C	2	240029790	240029790	T	C	HDAC4	c.2068A>G	NM_001378414.1	NP_001365343.1:p.(Ile690Val)	NC_000002.11:g.240029790T>C	(Likely) benign	1 lab	29f7816d1d
X:54280387 WNK3 C>CT	X	54280387	54280389	C	CT	WNK3	c.2367+4dup	NM_020922.5	NP_065973.2:p.?	NC_000023.10:g.54280389dup	VUS	1 lab	29f7a2743b
16:30735984 SRCAP TCTCTGGCTCCAGCACCCC>T	16	30735984	30736015	TCTCTGGCTCCAGCACCCC	T	SRCAP	c.5253_5270del	NM_006662.3	NP_006653.2:p.(Pro1752_Ala1757del)	NC_000016.9:g.30735998_30736015del	VUS	1 lab	29f7cefa0e
19:12786823 DHPS G>A	19	12786823	12786823	G	A	DHPS	c.1014+8C>T	NM_001930.4	NP_001921.1:p.?	NC_000019.9:g.12786823G>A	(Likely) benign	1 lab	29f8e5a379
1:38040285 GNL2 C>T	1	38040285	38040285	C	T	GNL2	c.1283G>A	NM_013285.3	NP_037417.1:p.(Arg428Gln)	NC_000001.10:g.38040285C>T	VUS	1 lab	29f96f00ba
11:2683315 KCNQ1 AG>A	11	2683315	2683316	AG	A	KCNQ1	c.1514+5del	NM_000218.3	NP_000209.2:p.?	NC_000011.9:g.2683316del	VUS	1 lab	29faad3277
12:129028642 TMEM132C G>A	12	129028642	129028642	G	A	TMEM132C	c.1115G>A	NM_001136103.3	NP_001129575.2:p.(Arg372His)	NC_000012.11:g.129028642G>A	(Likely) benign	1 lab	29fc739585
2:74329152 TET3 G>T	2	74329152	74329152	G	T	TET3	c.5237G>T	NM_001287491.2	NP_001274420.1:p.(Trp1746Leu)	NC_000002.11:g.74329152G>T	VUS	1 lab	29fdde7892
3:47098523 SETD2 C>T	3	47098523	47098523	C	T	SETD2	c.6751G>A	NM_014159.7	NP_054878.5:p.(Asp2251Asn)	NC_000003.11:g.47098523C>T	VUS	1 lab	29ffdd929d
11:17429961 ABCC8 C>T	11	17429961	17429961	C	T	ABCC8	c.2798G>A	NM_000352.6	NP_000343.2:p.(Arg933Gln)	NC_000011.9:g.17429961C>T	VUS	1 lab	2a0118d577
17:11523041 DNAH9 GTCT>G	17	11523041	11523048	GTCT	G	DNAH9	c.1298_1300del	NM_001372.4	NP_001363.2:p.(Ser433del)	NC_000017.10:g.11523046_11523048del	VUS	1 lab	2a01903ae3
16:89762050 CDK10 C>T	16	89762050	89762050	C	T	CDK10	c.1033C>T	NM_052988.5	NP_443714.3:p.(Arg345Trp)	NC_000016.9:g.89762050C>T	VUS	1 lab	2a01bddd29
17:7810931 CHD3 C>T	17	7810931	7810931	C	T	CHD3	c.4937C>T	NM_001005273.3	NP_001005273.1:p.(Thr1646Met)	NC_000017.10:g.7810931C>T	(Likely) benign	1 lab	2a03f0e285
17:78090889 GAA C>T	17	78090889	78090889	C	T	GAA	c.2312C>T	NM_000152.5	NP_000143.2:p.(Thr771Ile)	NC_000017.10:g.78090889C>T	VUS	1 lab	2a06c07acc
17:1628431 WDR81 G>A	17	1628431	1628431	G	A	WDR81	c.178G>A	NM_001163809.2	NP_001157281.1:p.(Ala60Thr)	NC_000017.10:g.1628431G>A	(Likely) benign	1 lab	2a06e59b83
15:43545096 TGM5 G>C	15	43545096	43545096	G	C	TGM5	c.723C>G	NM_201631.4	NP_963925.2:p.(Asn241Lys)	NC_000015.9:g.43545096G>C	(Likely) benign	1 lab	2a07057d8a
6:73023206 RIMS1 T>C	6	73023206	73023206	T	C	RIMS1	c.3964-3T>C	NM_014989.7	NP_055804.2:p.?	NC_000006.11:g.73023206T>C	(Likely) benign	1 lab	2a078e2aff
16:67189407 TRADD C>T	16	67189407	67189407	C	T	TRADD	c.302G>A	NM_003789.4	NP_003780.1:p.(Arg101Lys)	NC_000016.9:g.67189407C>T	VUS	1 lab	2a09c94d82
11:6048726 OR56A1 A>G	11	6048726	6048726	A	G	OR56A1	c.197T>C	NM_001388488.1	NP_001375417.1:p.(Leu66Pro)	NC_000011.9:g.6048726A>G	VUS	1 lab	2a09c9659f
11:62407171 GANAB C>G	11	62407171	62407171	C	G	GANAB	c.71G>C	NM_198335.4	NP_938149.2:p.(Gly24Ala)	NC_000011.9:g.62407171C>G	VUS	1 lab	1c5c16fc46
3:124418854 KALRN C>T	3	124418854	124418854	C	T	KALRN	c.7970C>T	NM_001388419.1	NP_001375348.1:p.(Ser2657Leu)	NC_000003.11:g.124418854C>T	(Likely) benign	1 lab	2a0b997813
1:45974693 MMACHC CAGA>C	1	45974693	45974698	CAGA	C	MMACHC	c.658_660del	NM_015506.3	NP_056321.2:p.(Lys220del)	NC_000001.10:g.45974696_45974698del	(Likely) pathogenic	1 lab	2a0ccf7864
18:59780468 PIGN C>A	18	59780468	59780468	C	A	PIGN	c.1333G>T	NM_176787.5	NP_789744.1:p.(Val445Phe)	NC_000018.9:g.59780468C>A	(Likely) benign	1 lab	2a0cd0943b
11:6662787 DCHS1 G>A	11	6662787	6662787	G	A	DCHS1	c.58C>T	NM_003737.4	NP_003728.1:p.(His20Tyr)	NC_000011.9:g.6662787G>A	(Likely) benign	1 lab	2a0dc0a3ef
7:101634964 CUX1 G>A	7	101634964	101634964	G	A	CUX1	c.142-36414G>A	NM_181552.4	NP_853530.2:p.?	NC_000007.13:g.101634964G>A	(Likely) benign	1 lab	2a0f64a1ab
X:76937311 ATRX G>T	X	76937311	76937311	G	T	ATRX	c.3437C>A	NM_000489.6	NP_000480.3:p.(Thr1146Asn)	NC_000023.10:g.76937311G>T	(Likely) benign	1 lab	2a0f7dce07
2:25523054 DNMT3A G>A	2	25523054	25523054	G	A	DNMT3A	c.131C>T	NM_022552.5	NP_072046.2:p.(Thr44Met)	NC_000002.11:g.25523054G>A	(Likely) benign	1 lab	2a114e2553
12:49425846 KMT2D T>G	12	49425846	49425846	T	G	KMT2D	c.12642A>C	NM_003482.4	NP_003473.3:p.(Leu4214Phe)	NC_000012.11:g.49425846T>G	VUS	1 lab	2a1170e64b
14:102916087 TECPR2 G>A	14	102916087	102916087	G	A	TECPR2	c.3197G>A	NM_014844.5	NP_055659.2:p.(Arg1066His)	NC_000014.8:g.102916087G>A	VUS	1 lab	1c5dad6542
7:27204773 HOXA9 C>G	7	27204773	27204773	C	G	HOXA9	c.304G>C	NM_152739.4	NP_689952.1:p.(Ala102Pro)	NC_000007.13:g.27204773C>G	(Likely) benign	1 lab	2a12882990
14:36039956 RALGAPA1 T>G	14	36039956	36039956	T	G	RALGAPA1	c.7369-6A>C	NM_001346249.2	NP_001333178.1:p.?	NC_000014.8:g.36039956T>G	(Likely) benign	1 lab	2a12a80f42
X:148797642 MAGEA11 G>A	X	148797642	148797642	G	A	MAGEA11	c.496G>A	NM_005366.5	NP_005357.2:p.(Ala166Thr)	NC_000023.10:g.148797642G>A	(Likely) benign	1 lab	2a12ffd4ff
9:73151876 TRPM3 C>T	9	73151876	73151876	C	T	TRPM3	c.4153G>A	NM_001366145.2	NP_001353074.1:p.(Val1385Ile)	NC_000009.11:g.73151876C>T	VUS	1 lab	2a13a447d4
14:102472508 DYNC1H1 G>T	14	102472508	102472508	G	T	DYNC1H1	c.5716+1G>T	NM_001376.5	NP_001367.2:p.?	NC_000014.8:g.102472508G>T	VUS	1 lab	2a15db2cb6
7:100175361 LRCH4 C>G	7	100175361	100175361	C	G	LRCH4	c.1042G>C	NM_002319.5	NP_002310.2:p.(Asp348His)	NC_000007.13:g.100175361C>G	(Likely) benign	1 lab	2a1609e26b
1:33478959 AK2 C>G	1	33478959	33478959	C	G	AK2	c.543G>C	NM_001625.4	NP_001616.1:p.(Lys181Asn)	NC_000001.10:g.33478959C>G	(Likely) benign	1 lab	2a16c4cc1c
22:37334027 CSF2RB C>T	22	37334027	37334027	C	T	CSF2RB	c.2177C>T	NM_000395.3	NP_000386.1:p.(Ser726Leu)	NC_000022.10:g.37334027C>T	VUS	1 lab	2a1787f068
6:42936079 PEX6 C>T	6	42936079	42936079	C	T	PEX6	c.1637G>A	NM_000287.4	NP_000278.3:p.(Arg546His)	NC_000006.11:g.42936079C>T	VUS	1 lab	2a185c35f1
15:51233925 AP4E1 A>G	15	51233925	51233925	A	G	AP4E1	c.1129A>G	NM_007347.5	NP_031373.2:p.(Thr377Ala)	NC_000015.9:g.51233925A>G	VUS	1 lab	2a1870b258
12:46123668 ARID2 C>T	12	46123668	46123668	C	T	ARID2	c.49C>T	NM_152641.4	NP_689854.2:p.(Leu17Phe)	NC_000012.11:g.46123668C>T	(Likely) benign	1 lab	2a1916a374
X:18221942 BEND2 C>T	X	18221942	18221942	C	T	BEND2	c.586G>A	NM_153346.5	NP_699177.2:p.(Glu196Lys)	NC_000023.10:g.18221942C>T	(Likely) benign	1 lab	2a194e6286
3:172165592 GHSR C>G	3	172165592	172165592	C	G	GHSR	c.612G>C	NM_198407.2	NP_940799.1:p.(Ala204=)	NC_000003.11:g.172165592C>G	(Likely) benign	1 lab	2a1990b901
5:138749843 DNAJC18 A>C	5	138749843	138749843	A	C	DNAJC18	c.1071T>G	NM_152686.4	NP_689899.1:p.(Gly357=)	NC_000005.9:g.138749843A>C	VUS	1 lab	2a19d4fb06
6:96969767 UFL1 A>C	6	96969767	96969767	A	C	UFL1	c.18A>C	NM_015323.5	NP_056138.1:p.(Glu6Asp)	NC_000006.11:g.96969767A>C	(Likely) benign	1 lab	2a1a0e22d0
5:32101318 PDZD2 C>T	5	32101318	32101318	C	T	PDZD2	c.8326C>T	NM_178140.4	NP_835260.2:p.(Pro2776Ser)	NC_000005.9:g.32101318C>T	(Likely) benign	1 lab	2a1b533b23
19:4048011 ZBTB7A GC>G	19	4048011	4048013	GC	G	ZBTB7A	c.1493del	NM_015898.4	NP_056982.1:p.(Gly498AlafsTer59)	NC_000019.9:g.4048013del	(Likely) pathogenic	1 lab	2a1c33219f
1:46511668 PIK3R3 T>C	1	46511668	46511668	T	C	PIK3R3	c.1109A>G	NM_003629.4	NP_003620.3:p.(Asp370Gly)	NC_000001.10:g.46511668T>C	(Likely) benign	1 lab	2a1c90f850
14:105410515 AHNAK2 G>C	14	105410515	105410515	G	C	AHNAK2	c.11273C>G	NM_138420.4	NP_612429.2:p.(Thr3758Arg)	NC_000014.8:g.105410515G>C	(Likely) benign	1 lab	2a1e0beef6
2:219920503 IHH G>A	2	219920503	219920503	G	A	IHH	c.662C>T	NM_002181.4	NP_002172.2:p.(Ser221Leu)	NC_000002.11:g.219920503G>A	VUS	1 lab	2a1e4cec1d
1:5937341 NPHP4 C>T	1	5937341	5937341	C	T	NPHP4	c.2629G>A	NM_015102.5	NP_055917.1:p.(Ala877Thr)	NC_000001.10:g.5937341C>T	VUS	1 lab	2a1febf6b3
12:6707385 CHD4 T>C	12	6707385	6707385	T	C	CHD4	c.1686+3A>G	NM_001273.5	NP_001264.2:p.?	NC_000012.11:g.6707385T>C	(Likely) benign	1 lab	2a213df3b3
1:39920772 MACF1 A>G	1	39920772	39920772	A	G	MACF1	c.21075+3A>G	NM_001394062.1	NP_001380991.1:p.?	NC_000001.10:g.39920772A>G	(Likely) benign	1 lab	2a21dc75d7
1:27878554 AHDC1 G>A	1	27878554	27878554	G	A	AHDC1	c.73C>T	NM_001371928.1	NP_001358857.1:p.(Pro25Ser)	NC_000001.10:g.27878554G>A	VUS	1 lab	2a22e3377d
19:7120675 INSR C>T	19	7120675	7120675	C	T	INSR	c.3615G>A	NM_000208.4	NP_000199.2:p.(Pro1205=)	NC_000019.9:g.7120675C>T	(Likely) benign	1 lab	2a245cdcf7
10:16957923 CUBN C>T	10	16957923	16957923	C	T	CUBN	c.7107G>A	NM_001081.3	NP_001072.2:p.(Gly2369=)	NC_000010.10:g.16957923C>T	(Likely) benign	1 lab	1cae1a40b8
8:8234187 PRAG1 C>T	8	8234187	8234187	C	T	PRAG1	c.1738G>A	NM_001080826.3	NP_001074295.2:p.(Gly580Ser)	NC_000008.10:g.8234187C>T	VUS	1 lab	2a24b493fe
3:52282668 PPM1M G>A	3	52282668	52282668	G	A	PPM1M	c.930G>A	NM_144641.4	NP_653242.3:p.(Val310=)	NC_000003.11:g.52282668G>A	VUS	1 lab	2a266d884c
10:88478479 LDB3 C>A	10	88478479	88478479	C	A	LDB3	c.1858-5C>A	NM_007078.3	NP_009009.1:p.?	NC_000010.10:g.88478479C>A	(Likely) benign	1 lab	2a26ec11d5
4:6302827 WFS1 C>T	4	6302827	6302827	C	T	WFS1	c.1305C>T	NM_006005.3	NP_005996.2:p.(Ile435=)	NC_000004.11:g.6302827C>T	(Likely) benign	1 lab	2a28cc3d79
19:7614790 PNPLA6 C>T	19	7614790	7614790	C	T	PNPLA6	c.1609-3C>T	NM_001166114.2	NP_001159586.1:p.?	NC_000019.9:g.7614790C>T	VUS	1 lab	2a29284802
11:17409531 KCNJ11 C>T	11	17409531	17409531	C	T	KCNJ11	c.108G>A	NM_000525.4	NP_000516.3:p.(Val36=)	NC_000011.9:g.17409531C>T	(Likely) benign	1 lab	2a2cbdbb93
16:85722416 GINS2 C>T	16	85722416	85722416	C	T	GINS2	c.89G>A	NM_016095.3	NP_057179.1:p.(Gly30Glu)	NC_000016.9:g.85722416C>T	VUS	1 lab	2a2d96814f
9:138710348 CAMSAP1 G>A	9	138710348	138710348	G	A	CAMSAP1	c.4074C>T	NM_015447.4	NP_056262.3:p.(Leu1358=)	NC_000009.11:g.138710348G>A	(Likely) benign	1 lab	2a2f528d6f
12:11214387 TAS2R46 C>A	12	11214387	11214387	C	A	TAS2R46	c.507G>T	NM_176887.2	NP_795368.2:p.(Arg169Ser)	NC_000012.11:g.11214387C>A	(Likely) benign	1 lab	2a3276966d
8:77775363 ZFHX4 T>G	8	77775363	77775363	T	G	ZFHX4	c.9413T>G	NM_024721.5	NP_078997.4:p.(Phe3138Cys)	NC_000008.10:g.77775363T>G	VUS	1 lab	2a3280f720
4:16227944 TAPT1 A>C	4	16227944	16227944	A	C	TAPT1	c.137T>G	NM_153365.3	NP_699196.2:p.(Leu46Arg)	NC_000004.11:g.16227944A>C	(Likely) benign	1 lab	2a3282432c
3:158409182 GFM1 C>G	3	158409182	158409182	C	G	GFM1	c.2182C>G	NM_024996.7	NP_079272.4:p.(Gln728Glu)	NC_000003.11:g.158409182C>G	VUS	1 lab	2a329bb879
1:149755695 FCGR1A T>C	1	149755695	149755695	T	C	FCGR1A	c.189T>C	NM_000566.3	NP_000557.1:p.(Thr63=)	NC_000001.10:g.149755695T>C	(Likely) benign	1 lab	1cb36b58cf
16:1576005 IFT140 C>T	16	1576005	1576005	C	T	IFT140	c.2651G>A	NM_014714.4	NP_055529.2:p.(Arg884Gln)	NC_000016.9:g.1576005C>T	(Likely) benign	1 lab	2a333b9d43
6:31380160 MICA TG>T	6	31380160	31380162	TG	T	MICA	c.953del	NM_001177519.3	NP_001170990.1:p.(Gly318AlafsTer68)	NC_000006.11:g.31380162del	VUS	1 lab	2a361f4388
6:149700588 TAB2 C>G	6	149700588	149700588	C	G	TAB2	c.1537C>G	NM_001292034.3	NP_001278963.1:p.(His513Asp)	NC_000006.11:g.149700588C>G	(Likely) benign	1 lab	2a369ebf0d
9:88655650 GOLM1 T>G	9	88655650	88655650	T	G	GOLM1	c.597+4A>C	NM_016548.4	NP_057632.2:p.?	NC_000009.11:g.88655650T>G	(Likely) benign	1 lab	2a36d12cf9
1:16352662 CLCNKA G>T	1	16352662	16352662	G	T	CLCNKA	c.418G>T	NM_004070.4	NP_004061.3:p.(Asp140Tyr)	NC_000001.10:g.16352662G>T	VUS	1 lab	2a36ff6ecd
7:2584549 BRAT1 C>T	7	2584549	2584549	C	T	BRAT1	c.424G>A	NM_152743.4	NP_689956.2:p.(Asp142Asn)	NC_000007.13:g.2584549C>T	VUS	1 lab	2a387a1330
X:101911213 GPRASP1 T>C	X	101911213	101911213	T	C	GPRASP1	c.2372T>C	NM_001184727.2	NP_001171656.1:p.(Leu791Pro)	NC_000023.10:g.101911213T>C	(Likely) benign	1 lab	2a395b5d90
7:44189411 GCK C>T	7	44189411	44189411	C	T	GCK	c.627G>A	NM_000162.5	NP_000153.1:p.(Thr209=)	NC_000007.13:g.44189411C>T	(Likely) benign	1 lab	2a3aa8b4c8
17:80046994 FASN C>T	17	80046994	80046994	C	T	FASN	c.2155G>A	NM_004104.5	NP_004095.4:p.(Glu719Lys)	NC_000017.10:g.80046994C>T	(Likely) benign	1 lab	2a3bd4df01
5:141331164 PCDH12 C>T	5	141331164	141331164	C	T	PCDH12	c.2881-9G>A	NM_016580.4	NP_057664.1:p.?	NC_000005.9:g.141331164C>T	(Likely) benign	1 lab	2a3dcd87d1
17:41001305 AOC2 C>T	17	41001305	41001305	C	T	AOC2	c.1791C>T	NM_009590.4	NP_033720.2:p.(Arg597=)	NC_000017.10:g.41001305C>T	(Likely) benign	1 lab	2a3dcf220c
13:111088621 COL4A2 C>T	13	111088621	111088621	C	T	COL4A2	c.732C>T	NM_001846.4	NP_001837.2:p.(Asp244=)	NC_000013.10:g.111088621C>T	(Likely) benign	1 lab	2a3e0eeecc
1:237993826 RYR2 C>G	1	237993826	237993826	C	G	RYR2	c.14656-4C>G	NM_001035.3	NP_001026.2:p.?	NC_000001.10:g.237993826C>G	(Likely) benign	1 lab	1cb400de64
11:71941312 INPPL1 C>T	11	71941312	71941312	C	T	INPPL1	c.1087C>T	NM_001567.4	NP_001558.3:p.(Arg363Cys)	NC_000011.9:g.71941312C>T	VUS	1 lab	2a3ebb7e17
19:11333488 DOCK6 C>T	19	11333488	11333488	C	T	DOCK6	c.3163G>A	NM_020812.4	NP_065863.2:p.(Val1055Met)	NC_000019.9:g.11333488C>T	VUS	1 lab	2a3f1ff1ac
5:127520055 SLC12A2 A>C	5	127520055	127520055	A	C	SLC12A2	c.3300-3A>C	NM_001046.3	NP_001037.1:p.?	NC_000005.9:g.127520055A>C	VUS	1 lab	2a404adc73
16:3795299 CREBBP T>C	16	3795299	3795299	T	C	CREBBP	c.3893A>G	NM_004380.3	NP_004371.2:p.(Tyr1298Cys)	NC_000016.9:g.3795299T>C	VUS	1 lab	2a41cf756f
5:149619303 CAMK2A G>C	5	149619303	149619303	G	C	CAMK2A	c.985-4C>G	NM_015981.4	NP_057065.2:p.?	NC_000005.9:g.149619303G>C	(Likely) benign	1 lab	2a435fdf52
20:44637678 MMP9 A>G	20	44637678	44637678	A	G	MMP9	c.113A>G	NM_004994.3	NP_004985.2:p.(Asn38Ser)	NC_000020.10:g.44637678A>G	(Likely) benign	1 lab	2a4391ae41
17:40696015 NAGLU C>T	17	40696015	40696015	C	T	NAGLU	c.1991C>T	NM_000263.4	NP_000254.2:p.(Ala664Val)	NC_000017.10:g.40696015C>T	(Likely) pathogenic	1 lab	2a44cbd5c4
2:170031819 LRP2 C>T	2	170031819	170031819	C	T	LRP2	c.10652G>A	NM_004525.3	NP_004516.2:p.(Arg3551His)	NC_000002.11:g.170031819C>T	VUS	1 lab	2a44d0a0fa
19:14218231 PRKACA A>G	19	14218231	14218231	A	G	PRKACA	c.47-10T>C	NM_002730.4	NP_002721.1:p.?	NC_000019.9:g.14218231A>G	(Likely) benign	1 lab	2a450b2f44
14:105856304 PACS2 CGAA>C	14	105856304	105856309	CGAA	C	PACS2	c.2043_2045del	NM_001100913.3	NP_001094383.2:p.(Glu682del)	NC_000014.8:g.105856307_105856309del	VUS	1 lab	2a465a8dd2
2:48915000 LHCGR G>A	2	48915000	48915000	G	A	LHCGR	c.1936C>T	NM_000233.4	NP_000224.2:p.(Arg646Cys)	NC_000002.11:g.48915000G>A	VUS	1 lab	2a472dee38
19:15640663 CYP4F22 A>G	19	15640663	15640663	A	G	CYP4F22	c.366A>G	NM_173483.4	NP_775754.2:p.(Ser122=)	NC_000019.9:g.15640663A>G	VUS	1 lab	2a49f3d743
2:179580435 TTN T>C	2	179580435	179580435	T	C	TTN	c.25706A>G	NM_001267550.2	NP_001254479.2:p.(Tyr8569Cys)	NC_000002.11:g.179580435T>C	(Likely) benign	1 lab	2a4dcd5327
6:101110402 ASCC3 G>A	6	101110402	101110402	G	A	ASCC3	c.2297C>T	NM_006828.4	NP_006819.2:p.(Ser766Leu)	NC_000006.11:g.101110402G>A	(Likely) benign	1 lab	2a505c1bf6
X:129148954 BCORL1 C>G	X	129148954	129148954	C	G	BCORL1	c.2206C>G	NM_001379451.1	NP_001366380.1:p.(Leu736Val)	NC_000023.10:g.129148954C>G	(Likely) benign	1 lab	2a5068538e
12:121440231 HNF1A G>A	12	121440231	121440231	G	A	HNF1A	c.*1236G>A	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121440231G>A	(Likely) benign	1 lab	2a511c034b
1:990380 AGRN C>T	1	990380	990380	C	T	AGRN	c.*19C>T	NM_198576.4	NP_940978.2:p.?	NC_000001.10:g.990380C>T	(Likely) benign	1 lab	1c5dfd6299
19:20807517 ZNF626 A>T	19	20807517	20807517	A	T	ZNF626	c.1166T>A	NM_001076675.3	NP_001070143.1:p.(Ile389Lys)	NC_000019.9:g.20807517A>T	(Likely) benign	1 lab	2a537923f3
11:58980123 MPEG1 T>C	11	58980123	58980123	T	C	MPEG1	c.216A>G	NM_001039396.2	NP_001034485.1:p.(Thr72=)	NC_000011.9:g.58980123T>C	(Likely) benign	1 lab	1cb4db2dde
11:105845028 GRIA4 C>A	11	105845028	105845028	C	A	GRIA4	c.2410-9C>A	NM_000829.4	NP_000820.4:p.?	NC_000011.9:g.105845028C>A	VUS	1 lab	2a55d55c67
16:81946329 PLCG2 C>T	16	81946329	81946329	C	T	PLCG2	c.2054+8C>T	NM_002661.5	NP_002652.2:p.?	NC_000016.9:g.81946329C>T	(Likely) benign	1 lab	2a584ac566
16:2160078 PKD1 A>G	16	2160078	2160078	A	G	PKD1	c.5090T>C	NM_001009944.3	NP_001009944.3:p.(Leu1697Pro)	NC_000016.9:g.2160078A>G	VUS	1 lab	2a592d1492
15:31332329 TRPM1 C>T	15	31332329	31332329	C	T	TRPM1	c.2308G>A	NM_001252024.2	NP_001238953.1:p.(Gly770Ser)	NC_000015.9:g.31332329C>T	VUS	1 lab	2a593471e3
X:152861599 CCNQ G>A	X	152861599	152861599	G	A	CCNQ	c.159C>T	NM_152274.5	NP_689487.2:p.(Thr53=)	NC_000023.10:g.152861599G>A	(Likely) benign	1 lab	2a5a742309
12:11992222 ETV6 T>TC	12	11992222	11992223	T	TC	ETV6	c.313dup	NM_001987.5	NP_001978.1:p.(Arg105ProfsTer7)	NC_000012.11:g.11992223dup	VUS	1 lab	2a5bb74699
6:32008730 CYP21A2 G>A	6	32008730	32008730	G	A	CYP21A2	c.1307G>A	NM_000500.9	NP_000491.4:p.(Arg436His)	NC_000006.11:g.32008730G>A	VUS	1 lab	2a5c5be47e
7:70230089 AUTS2 C>T	7	70230089	70230089	C	T	AUTS2	c.1468+98C>T	NM_015570.4	NP_056385.1:p.?	NC_000007.13:g.70230089C>T	(Likely) benign	1 lab	1cb578defe
14:64443276 SYNE2 T>TTC	14	64443276	64443278	T	TTC	SYNE2	c.1129-4_1129-3dup	NM_182914.2	NP_878918.2:p.?	NC_000014.8:g.64443277_64443278dup	(Likely) benign	1 lab	1cb5d3b6d0
5:124036952 ZNF608 AG>A	5	124036952	124036957	AG	A	ZNF608	c.916del	NM_020747.3	NP_065798.2:p.(Leu306CysfsTer54)	NC_000005.9:g.124036957del	VUS	1 lab	2a62423d9f
2:120362856 CFAP221 A>T	2	120362856	120362856	A	T	CFAP221	c.1124A>T	NM_001271049.2	NP_001257978.2:p.(His375Leu)	NC_000002.11:g.120362856A>T	VUS	1 lab	2a6310015f
X:153629115 RPL10 C>T	X	153629115	153629115	C	T	RPL10	c.565C>T	NM_006013.5	NP_006004.3:p.(Arg189Trp)	NC_000023.10:g.153629115C>T	VUS	1 lab	2a677ac2f4
1:214556665 PTPN14 T>C	1	214556665	214556665	T	C	PTPN14	c.2533A>G	NM_005401.5	NP_005392.2:p.(Met845Val)	NC_000001.10:g.214556665T>C	(Likely) benign	1 lab	2a67b0583c
1:8601306 RERE A>G	1	8601306	8601306	A	G	RERE	c.797T>C	NM_012102.4	NP_036234.3:p.(Phe266Ser)	NC_000001.10:g.8601306A>G	VUS	1 lab	1c61f11110
12:48369171 COL2A1 G>T	12	48369171	48369171	G	T	COL2A1	c.3815C>A	NM_001844.5	NP_001835.3:p.(Pro1272His)	NC_000012.11:g.48369171G>T	VUS	1 lab	2a68c71d3d
1:204120953 ETNK2 G>T	1	204120953	204120953	G	T	ETNK2	c.28C>A	NM_018208.4	NP_060678.2:p.(Pro10Thr)	NC_000001.10:g.204120953G>T	VUS	1 lab	2a6a982e4c
2:47637356 MSH2 G>A	2	47637356	47637356	G	A	MSH2	c.490G>A	NM_000251.3	NP_000242.1:p.(Gly164Arg)	NC_000002.11:g.47637356G>A	(Likely) pathogenic	1 lab	2a6bf9c271
21:43413336 ZBTB21 T>C	21	43413336	43413336	T	C	ZBTB21	c.869A>G	NM_001098402.2	NP_001091872.1:p.(Tyr290Cys)	NC_000021.8:g.43413336T>C	(Likely) benign	1 lab	2a6c07722c
19:42874440 MEGF8 A>G	19	42874440	42874440	A	G	MEGF8	c.6934A>G	NM_001271938.2	NP_001258867.1:p.(Ile2312Val)	NC_000019.9:g.42874440A>G	(Likely) benign	1 lab	2a6c83984c
10:97380904 ALDH18A1 C>T	10	97380904	97380904	C	T	ALDH18A1	c.1351G>A	NM_002860.4	NP_002851.2:p.(Val451Met)	NC_000010.10:g.97380904C>T	VUS	1 lab	2a6e9a30f1
19:11363171 DOCK6 T>C	19	11363171	11363171	T	C	DOCK6	c.364A>G	NM_020812.4	NP_065863.2:p.(Ile122Val)	NC_000019.9:g.11363171T>C	(Likely) benign	1 lab	2a6ee9a042
17:34073195 GAS2L2 G>A	17	34073195	34073195	G	A	GAS2L2	c.1321C>T	NM_139285.4	NP_644814.1:p.(Arg441Ter)	NC_000017.10:g.34073195G>A	VUS	1 lab	2a6fb2f8b6
17:61600820 KCNH6 G>A	17	61600820	61600820	G	A	KCNH6	c.46G>A	NM_001278919.2	NP_001265848.1:p.(Asp16Asn)	NC_000017.10:g.61600820G>A	(Likely) benign	1 lab	2a6fb6611e
5:7893013 MTRR C>T	5	7893013	7893013	C	T	MTRR	c.1544C>T	NM_002454.3	NP_002445.2:p.(Ala515Val)	NC_000005.9:g.7893013C>T	(Likely) benign	1 lab	2a73b4e864
15:60803497 RORA C>G	15	60803497	60803497	C	G	RORA	c.748G>C	NM_134261.3	NP_599023.1:p.(Ala250Pro)	NC_000015.9:g.60803497C>G	(Likely) benign	1 lab	2a75a83096
7:131833400 PLXNA4 G>A	7	131833400	131833400	G	A	PLXNA4	c.4666C>T	NM_020911.2	NP_065962.1:p.(Arg1556Ter)	NC_000007.13:g.131833400G>A	VUS	1 lab	2a7642069d
1:116202332 VANGL1 A>G	1	116202332	116202332	A	G	VANGL1	c.142A>G	NM_138959.3	NP_620409.1:p.(Ile48Val)	NC_000001.10:g.116202332A>G	VUS	1 lab	2a77983b29
15:89402465 ACAN A>T	15	89402465	89402465	A	T	ACAN	c.6649A>T	NM_001369268.1	NP_001356197.1:p.(Ile2217Phe)	NC_000015.9:g.89402465A>T	VUS	1 lab	2a79bebf96
12:88465084 CEP290 T>C	12	88465084	88465084	T	C	CEP290	c.5998A>G	NM_025114.4	NP_079390.3:p.(Ile2000Val)	NC_000012.11:g.88465084T>C	VUS	1 lab	2a7a2f0af1
3:49723726 MST1 G>GCCC	3	49723726	49723738	G	GCCC	MST1	c.1016+17_1016+19dup	NM_020998.3	NP_066278.3:p.?	NC_000003.11:g.49723736_49723738dup	(Likely) benign	1 lab	1cb7c389a4
19:48184455 BICRA G>T	19	48184455	48184455	G	T	BICRA	c.2028G>T	NM_001394372.1	NP_001381301.1:p.(Lys676Asn)	NC_000019.9:g.48184455G>T	VUS	1 lab	2a7b0155bc
1:153651589 NPR1 C>T	1	153651589	153651589	C	T	NPR1	c.5C>T	NM_000906.4	NP_000897.3:p.(Pro2Leu)	NC_000001.10:g.153651589C>T	(Likely) benign	1 lab	2a7b28075c
16:29810009 KIF22 G>A	16	29810009	29810009	G	A	KIF22	c.490G>A	NM_007317.3	NP_015556.1:p.(Glu164Lys)	NC_000016.9:g.29810009G>A	VUS	1 lab	2a7bda31a8
1:183102600 LAMC1 A>C	1	183102600	183102600	A	C	LAMC1	c.3764A>C	NM_002293.4	NP_002284.3:p.(Glu1255Ala)	NC_000001.10:g.183102600A>C	(Likely) benign	1 lab	2a7d08ce3e
7:56087368 PSPH G>T	7	56087368	56087368	G	T	PSPH	c.200C>A	NM_004577.4	NP_004568.2:p.(Ala67Asp)	NC_000007.13:g.56087368G>T	VUS	1 lab	2a7dcc6ea7
17:38792237 SMARCE1 G>A	17	38792237	38792237	G	A	SMARCE1	c.487C>T	NM_003079.5	NP_003070.3:p.(Arg163Cys)	NC_000017.10:g.38792237G>A	(Likely) benign	1 lab	2a7de308ba
11:2181179 INS G>A	11	2181179	2181179	G	A	INS	c.236C>T	NM_000207.3	NP_000198.1:p.(Pro79Leu)	NC_000011.9:g.2181179G>A	VUS	1 lab	2a802e0a7d
18:55336713 ATP8B1 A>T	18	55336713	55336713	A	T	ATP8B1	c.1934T>A	NM_001374385.1	NP_001361314.1:p.(Ile645Asn)	NC_000018.9:g.55336713A>T	VUS	1 lab	2a807ddc2e
6:85446962 TBX18 C>T	6	85446962	85446962	C	T	TBX18	c.1265G>A	NM_001080508.3	NP_001073977.1:p.(Arg422His)	NC_000006.11:g.85446962C>T	(Likely) benign	1 lab	2a811a9969
10:27366386 ANKRD26 C>A	10	27366386	27366386	C	A	ANKRD26	c.958G>T	NM_014915.3	NP_055730.2:p.(Val320Phe)	NC_000010.10:g.27366386C>A	VUS	1 lab	2a8166b9d8
9:109691955 ZNF462 G>A	9	109691955	109691955	G	A	ZNF462	c.5762G>A	NM_021224.6	NP_067047.4:p.(Arg1921His)	NC_000009.11:g.109691955G>A	VUS	1 lab	2a82519e2e
3:52439169 BAP1 G>A	3	52439169	52439169	G	A	BAP1	c.1073C>T	NM_004656.4	NP_004647.1:p.(Pro358Leu)	NC_000003.11:g.52439169G>A	VUS	1 lab	2a825ee799
3:38892001 SCN11A T>A	3	38892001	38892001	T	A	SCN11A	c.4298A>T	NM_001349253.2	NP_001336182.1:p.(Asp1433Val)	NC_000003.11:g.38892001T>A	VUS	1 lab	2a82baeaf6
7:31013591 GHRHR G>A	7	31013591	31013591	G	A	GHRHR	c.598-9G>A	NM_000823.4	NP_000814.2:p.?	NC_000007.13:g.31013591G>A	VUS	1 lab	2a83352de7
8:145739006 RECQL4 C>T	8	145739006	145739006	C	T	RECQL4	c.2149G>A	NM_004260.4	NP_004251.4:p.(Ala717Thr)	NC_000008.10:g.145739006C>T	VUS	1 lab	2a8337e92a
17:48653579 CACNA1G G>T	17	48653579	48653579	G	T	CACNA1G	c.1816G>T	NM_018896.5	NP_061496.2:p.(Ala606Ser)	NC_000017.10:g.48653579G>T	(Likely) benign	1 lab	2a83d1e71a
17:79826614 ARHGDIA G>A	17	79826614	79826614	G	A	ARHGDIA	c.*138C>T	NM_004309.6	NP_004300.1:p.?	NC_000017.10:g.79826614G>A	(Likely) benign	1 lab	2a840120a0
12:111785437 CUX2 A>C	12	111785437	111785437	A	C	CUX2	c.3769A>C	NM_015267.4	NP_056082.2:p.(Thr1257Pro)	NC_000012.11:g.111785437A>C	(Likely) benign	1 lab	2a84abaf6e
20:35884834 GHRH G>A	20	35884834	35884834	G	A	GHRH	c.151C>T	NM_021081.6	NP_066567.1:p.(Arg51Cys)	NC_000020.10:g.35884834G>A	VUS	1 lab	2a87ea3dc7
9:98211521 PTCH1 C>T	9	98211521	98211521	C	T	PTCH1	c.3634G>A	NM_000264.5	NP_000255.2:p.(Gly1212Ser)	NC_000009.11:g.98211521C>T	VUS	1 lab	2a8836a2f0
16:53729243 RPGRIP1L A>G	16	53729243	53729243	A	G	RPGRIP1L	c.230+820T>C	NM_015272.5	NP_056087.2:p.?	NC_000016.9:g.53729243A>G	(Likely) benign	1 lab	2a892ff4b3
2:200137302 SATB2 C>T	2	200137302	200137302	C	T	SATB2	c.1834G>A	NM_001172509.2	NP_001165980.1:p.(Ala612Thr)	NC_000002.11:g.200137302C>T	(Likely) benign	1 lab	2a899fe8a8
4:170618781 CLCN3 A>G	4	170618781	170618781	A	G	CLCN3	c.1459A>G	NM_001829.4	NP_001820.2:p.(Ile487Val)	NC_000004.11:g.170618781A>G	VUS	1 lab	2a8b5518b8
2:32706417 BIRC6 G>T	2	32706417	32706417	G	T	BIRC6	c.7438G>T	NM_016252.4	NP_057336.3:p.(Asp2480Tyr)	NC_000002.11:g.32706417G>T	VUS	1 lab	2a8d5b962d
1:11887261 CLCN6 G>A	1	11887261	11887261	G	A	CLCN6	c.823G>A	NM_001286.5	NP_001277.2:p.(Gly275Arg)	NC_000001.10:g.11887261G>A	VUS	1 lab	2a8f34c766
16:3304571 MEFV G>A	16	3304571	3304571	G	A	MEFV	c.497C>T	NM_000243.2	NP_000234.1:p.(Ser166Leu)	NC_000016.9:g.3304571G>A	VUS	1 lab	1cb9bffe34
3:113212908 SPICE1 G>T	3	113212908	113212908	G	T	SPICE1	c.373C>A	NM_144718.4	NP_653319.1:p.(Arg125Ser)	NC_000003.11:g.113212908G>T	VUS	1 lab	2a8facac4d
20:34785878 EPB41L1 G>A	20	34785878	34785878	G	A	EPB41L1	c.1583G>A	NM_012156.2	NP_036288.2:p.(Arg528Gln)	NC_000020.10:g.34785878G>A	VUS	1 lab	2a8fefdbea
7:151046291 NUB1 A>G	7	151046291	151046291	A	G	NUB1	c.250A>G	NM_001243351.2	NP_001230280.2:p.(Thr84Ala)	NC_000007.13:g.151046291A>G	(Likely) benign	1 lab	2a9153d837
1:63010710 DOCK7 C>A	1	63010710	63010710	C	A	DOCK7	c.2767G>T	NM_001367561.1	NP_001354490.1:p.(Gly923Cys)	NC_000001.10:g.63010710C>A	VUS	1 lab	2a91b8d742
11:65477813 KAT5 C>T	11	65477813	65477813	C	T	KAT5				NC_000011.9:g.65477813C>T	(Likely) benign	1 lab	2a92178963
22:29885622 NEFH A>AAGGAAG	22	29885622	29885626	A	AAGGAAG	NEFH	c.1996_1997insAAGAGG	NM_021076.4	NP_066554.2:p.(Lys665_Ala666insGluGlu)	NC_000022.10:g.29885625_29885626insAAGAGG	VUS	1 lab	2a9336d171
19:49003070 LMTK3 G>A	19	49003070	49003070	G	A	LMTK3	c.1256C>T	NM_001388485.1	NP_001375414.1:p.(Pro419Leu)	NC_000019.9:g.49003070G>A	VUS	1 lab	2a965c18f7
6:32944417 BRD2 C>T	6	32944417	32944417	C	T	BRD2	c.904C>T	NM_005104.4	NP_005095.1:p.(Pro302Ser)	NC_000006.11:g.32944417C>T	(Likely) benign	1 lab	2a96a076b7
12:42538437 GXYLT1 G>C	12	42538437	42538437	G	C	GXYLT1	c.12C>G	NM_173601.2	NP_775872.1:p.(Tyr4Ter)	NC_000012.11:g.42538437G>C	(Likely) benign	1 lab	2a9795008d
9:94058296 AUH C>T	9	94058296	94058296	C	T	AUH	c.655+7G>A	NM_001698.3	NP_001689.1:p.?	NC_000009.11:g.94058296C>T	(Likely) benign	1 lab	2a97d37591
15:91550281 VPS33B C>G	15	91550281	91550281	C	G	VPS33B	c.604-5G>C	NM_018668.5	NP_061138.3:p.?	NC_000015.9:g.91550281C>G	(Likely) benign	1 lab	2a990df6a6
10:15561294 ITGA8 A>C	10	15561294	15561294	A	C	ITGA8	c.3100T>G	NM_003638.3	NP_003629.2:p.(Trp1034Gly)	NC_000010.10:g.15561294A>C	VUS	1 lab	2a9943c0e8
9:131761897 NUP188 C>G	9	131761897	131761897	C	G	NUP188	c.3662-6C>G	NM_015354.3	NP_056169.1:p.?	NC_000009.11:g.131761897C>G	(Likely) benign	1 lab	2a99467efe
1:23636976 HNRNPR G>C	1	23636976	23636976	G	C	HNRNPR	c.1873C>G	NM_005826.5	NP_005817.1:p.(Gln625Glu)	NC_000001.10:g.23636976G>C	VUS	1 lab	2a99b17228
X:100743845 ARMCX4 A>T	X	100743845	100743845	A	T	ARMCX4	c.269A>T	NM_001256155.3	NP_001243084.2:p.(Lys90Met)	NC_000023.10:g.100743845A>T	(Likely) benign	1 lab	2a9b5b9dfb
17:12916517 ELAC2 TACTC>T	17	12916517	12916524	TACTC	T	ELAC2	c.559+3_559+6del	NM_018127.7	NP_060597.4:p.?	NC_000017.10:g.12916521_12916524del	VUS	1 lab	2a9c614e1e
7:47942056 PKD1L1 T>A	7	47942056	47942056	T	A	PKD1L1	c.1984A>T	NM_138295.5	NP_612152.1:p.(Thr662Ser)	NC_000007.13:g.47942056T>A	VUS	1 lab	2a9ebc548b
15:89388797 ACAN C>G	15	89388797	89388797	C	G	ACAN	c.1113C>G	NM_001369268.1	NP_001356197.1:p.(Thr371=)	NC_000015.9:g.89388797C>G	(Likely) benign	1 lab	2aa1e4b856
10:32337384 KIF5B A>G	10	32337384	32337384	A	G	KIF5B	c.214+8T>C	NM_004521.3	NP_004512.1:p.?	NC_000010.10:g.32337384A>G	(Likely) benign	1 lab	2aa2443021
16:87921865 CA5A C>T	16	87921865	87921865	C	T	CA5A	c.788G>A	NM_001739.2	NP_001730.1:p.(Arg263His)	NC_000016.9:g.87921865C>T	(Likely) benign	1 lab	2aa24b8fd7
5:118533499 DMXL1 A>T	5	118533499	118533499	A	T	DMXL1	c.7593A>T	NM_001290321.3	NP_001277250.1:p.(Gln2531His)	NC_000005.9:g.118533499A>T	VUS	1 lab	2aa2e6e008
3:11067494 SLC6A1 A>T	3	11067494	11067494	A	T	SLC6A1	c.885A>T	NM_003042.4	NP_003033.3:p.(Ser295=)	NC_000003.11:g.11067494A>T	(Likely) benign	1 lab	1cba60f294
22:41527607 EP300 C>T	22	41527607	41527607	C	T	EP300	c.1498C>T	NM_001429.4	NP_001420.2:p.(Pro500Ser)	NC_000022.10:g.41527607C>T	VUS	1 lab	2aa3821399
14:105413867 AHNAK2 C>T	14	105413867	105413867	C	T	AHNAK2	c.7921G>A	NM_138420.4	NP_612429.2:p.(Val2641Met)	NC_000014.8:g.105413867C>T	VUS	1 lab	2aa7d3975b
19:14208459 PRKACA C>T	19	14208459	14208459	C	T	PRKACA	c.574G>A	NM_002730.4	NP_002721.1:p.(Val192Met)	NC_000019.9:g.14208459C>T	VUS	1 lab	2aa85b8f3d
X:148630961 HSFX3 A>C	X	148630961	148630961	A	C	HSFX3	c.437T>G	NM_001323079.3	NP_001310008.1:p.(Phe146Cys)	NC_000023.10:g.148630961A>C	(Likely) benign	1 lab	2aa871dcd0
6:100841459 SIM1 A>G	6	100841459	100841459	A	G	SIM1	c.1474T>C	NM_005068.3	NP_005059.2:p.(Ser492Pro)	NC_000006.11:g.100841459A>G	VUS	1 lab	2aa8bc7ca9
10:43615578 RET G>A	10	43615578	43615578	G	A	RET	c.2657G>A	NM_020975.6	NP_066124.1:p.(Arg886Gln)	NC_000010.10:g.43615578G>A	VUS	1 lab	2aad25d5e3
15:59466359 MYO1E C>T	15	59466359	59466359	C	T	MYO1E	c.2130G>A	NM_004998.3	NP_004989.2:p.(Val710=)	NC_000015.9:g.59466359C>T	(Likely) benign	1 lab	1cbb9ca2be
1:24180850 FUCA1 C>T	1	24180850	24180850	C	T	FUCA1	c.969G>A	NM_000147.5	NP_000138.2:p.(Ser323=)	NC_000001.10:g.24180850C>T	VUS	1 lab	2aae59e967
16:28944412 CD19 G>C	16	28944412	28944412	G	C	CD19	c.536G>C	NM_001770.5	NP_001761.3:p.(Ser179Thr)	NC_000016.9:g.28944412G>C	(Likely) benign	1 lab	1cbd945878
10:71906005 TYSND1 A>G	10	71906005	71906005	A	G	TYSND1	c.338T>C	NM_173555.4	NP_775826.2:p.(Leu113Pro)	NC_000010.10:g.71906005A>G	(Likely) benign	1 lab	2ab0592ac1
3:133376750 TOPBP1 T>C	3	133376750	133376750	T	C	TOPBP1	c.255A>G	NM_007027.4	NP_008958.2:p.(Ile85Met)	NC_000003.11:g.133376750T>C	VUS	1 lab	2ab1d1521d
3:65415411 MAGI1 T>A	3	65415411	65415411	T	A	MAGI1	c.1951A>T	NM_001033057.2	NP_001028229.1:p.(Met651Leu)	NC_000003.11:g.65415411T>A	(Likely) benign	1 lab	2ab1eb0ed9
7:19156651 TWIST1 C>CCCGCCGCCGCTGCTGCTG	7	19156651	19156679	C	CCCGCCGCCGCTGCTGCTG	TWIST1	c.276_293dup	NM_000474.4	NP_000465.1:p.(Ser94_Ser99dup)	NC_000007.13:g.19156662_19156679dup	VUS	1 lab	2ab4454d00
X:53245044 KDM5C C>T	X	53245044	53245044	C	T	KDM5C	c.896G>A	NM_004187.5	NP_004178.2:p.(Ser299Asn)	NC_000023.10:g.53245044C>T	(Likely) benign	1 lab	2ab5935929
X:128615056 SMARCA1 G>T	X	128615056	128615056	G	T	SMARCA1	c.2324C>A	NM_001282874.2	NP_001269803.1:p.(Pro775Gln)	NC_000023.10:g.128615056G>T	VUS	1 lab	2ab5c0e8c1
1:36379435 AGO1 G>A	1	36379435	36379435	G	A	AGO1	c.1583-8G>A	NM_012199.5	NP_036331.1:p.?	NC_000001.10:g.36379435G>A	(Likely) benign	1 lab	2ab641b5fd
6:30310029 TRIM39 G>C	6	30310029	30310029	G	C	TRIM39	c.1460G>C	NM_001369521.2	NP_001356450.1:p.(Trp487Ser)	NC_000006.11:g.30310029G>C	VUS	1 lab	2ab6c36d78
19:4548163 SEMA6B C>T	19	4548163	4548163	C	T	SEMA6B	c.1477G>A	NM_032108.4	NP_115484.2:p.(Glu493Lys)	NC_000019.9:g.4548163C>T	VUS	1 lab	2ab6ec9cb5
3:191888316 FGF12 G>C	3	191888316	191888316	G	C	FGF12	c.358C>G	NM_004113.6	NP_004104.3:p.(Gln120Glu)	NC_000003.11:g.191888316G>C	(Likely) benign	1 lab	2ab70ec4c0
22:42565899 TCF20 C>G	22	42565899	42565899	C	G	TCF20	c.5753G>C	NM_001378418.1	NP_001365347.1:p.(Cys1918Ser)	NC_000022.10:g.42565899C>G	VUS	1 lab	2ab78803bd
11:46905519 LRP4 G>A	11	46905519	46905519	G	A	LRP4	c.2515C>T	NM_002334.4	NP_002325.2:p.(Arg839Trp)	NC_000011.9:g.46905519G>A	VUS	1 lab	2ab7a0cc91
19:12813633 TNPO2 C>G	19	12813633	12813633	C	G	TNPO2	c.2305+4G>C	NM_001382241.1	NP_001369170.1:p.?	NC_000019.9:g.12813633C>G	(Likely) benign	1 lab	2ab8083bc7
13:25466978 CPAP G>A	13	25466978	25466978	G	A	CPAP	c.3019C>T	NM_018451.5	NP_060921.3:p.(Arg1007Trp)	NC_000013.10:g.25466978G>A	VUS	1 lab	2ab8ac3097
7:98942142 ARPC1A A>AGT	7	98942142	98942145	A	AGT	ARPC1A	c.392+6_392+7dup	NM_006409.4	NP_006400.2:p.?	NC_000007.13:g.98942144_98942145dup	VUS	1 lab	2ab9349b18
19:18966992 UPF1 C>T	19	18966992	18966992	C	T	UPF1	c.1710-3C>T	NM_002911.4	NP_002902.2:p.?	NC_000019.9:g.18966992C>T	(Likely) benign	1 lab	2ab9d8e3cc
20:44685026 SLC12A5 G>A	20	44685026	44685026	G	A	SLC12A5	c.2933G>A	NM_020708.5	NP_065759.1:p.(Ser978Asn)	NC_000020.10:g.44685026G>A	(Likely) benign	1 lab	2aba6255db
17:8051958 PER1 C>T	17	8051958	8051958	C	T	PER1	c.1048+4G>A	NM_002616.3	NP_002607.2:p.?	NC_000017.10:g.8051958C>T	(Likely) benign	1 lab	2abb0f2e6f
X:23693100 PRDX4 C>T	X	23693100	23693100	C	T	PRDX4	c.360-7C>T	NM_006406.2	NP_006397.1:p.?	NC_000023.10:g.23693100C>T	(Likely) benign	1 lab	2abc48ec1d
9:139405662 NOTCH1 C>T	9	139405662	139405662	C	T	NOTCH1	c.2529G>A	NM_017617.5	NP_060087.3:p.(Glu843=)	NC_000009.11:g.139405662C>T	(Likely) benign	1 lab	2abc9c11e8
1:176050364 COP1 G>A	1	176050364	176050364	G	A	COP1	c.1201C>T	NM_022457.7	NP_071902.2:p.(Arg401Ter)	NC_000001.10:g.176050364G>A	VUS	1 lab	2abd9ead38
11:118373953 KMT2A T>C	11	118373953	118373953	T	C	KMT2A	c.7346T>C	NM_001197104.2	NP_001184033.1:p.(Phe2449Ser)	NC_000011.9:g.118373953T>C	(Likely) benign	1 lab	2abfd523ae
22:51142610 SHANK3 G>T	22	51142610	51142610	G	T	SHANK3	c.1930G>T	NM_001372044.2	NP_001358973.1:p.(Asp644Tyr)	NC_000022.10:g.51142610G>T	VUS	1 lab	2ac37219f7
1:16272666 ZBTB17 G>A	1	16272666	16272666	G	A	ZBTB17	c.518C>T	NM_003443.3	NP_003434.2:p.(Ala173Val)	NC_000001.10:g.16272666G>A	VUS	1 lab	2ac3899ca3
14:20215941 OR4Q3 A>G	14	20215941	20215941	A	G	OR4Q3	c.379A>G	NM_001405963.1	NP_001392892.1:p.(Met127Val)	NC_000014.8:g.20215941A>G	(Likely) benign	1 lab	2ac465ad5b
7:31014635 GHRHR C>T	7	31014635	31014635	C	T	GHRHR	c.862C>T	NM_000823.4	NP_000814.2:p.(Pro288Ser)	NC_000007.13:g.31014635C>T	VUS	1 lab	2ac592f39b
9:136401710 ADAMTSL2 T>A	9	136401710	136401710	T	A	ADAMTSL2	c.-125T>A	NM_014694.4	NP_055509.2:p.?	NC_000009.11:g.136401710T>A	VUS	1 lab	2ac9be474f
10:124329693 DMBT1 C>T	10	124329693	124329693	C	T	DMBT1	c.107C>T	NM_001377530.1	NP_001364459.1:p.(Ser36Leu)	NC_000010.10:g.124329693C>T	VUS	1 lab	2aca183bbb
4:1801156 FGFR3 G>C	4	1801156	1801156	G	C	FGFR3	c.285G>C	NM_000142.5	NP_000133.1:p.(Gln95His)	NC_000004.11:g.1801156G>C	VUS	1 lab	2acab897f0
8:11566252 GATA4 C>T	8	11566252	11566252	C	T	GATA4	c.431C>T	NM_001308093.3	NP_001295022.1:p.(Ala144Val)	NC_000008.10:g.11566252C>T	VUS	1 lab	2acbaffd66
16:67662321 CTCF T>TA	16	67662321	67662322	T	TA	CTCF	c.1568dup	NM_006565.4	NP_006556.1:p.(Tyr523Ter)	NC_000016.9:g.67662322dup	(Likely) pathogenic	1 lab	2acc0142c4
3:126737314 PLXNA1 C>T	3	126737314	126737314	C	T	PLXNA1	c.3838C>T	NM_032242.4	NP_115618.3:p.(Arg1280Trp)	NC_000003.11:g.126737314C>T	VUS	1 lab	2acf67d823
6:32032672 TNXB T>A	6	32032672	32032672	T	A	TNXB	c.6767A>T	NM_001365276.2	NP_001352205.1:p.(His2256Leu)	NC_000006.11:g.32032672T>A	(Likely) benign	1 lab	2acffc8152
15:44892756 SPG11 A>C	15	44892756	44892756	A	C	SPG11	c.3595T>G	NM_025137.4	NP_079413.3:p.(Phe1199Val)	NC_000015.9:g.44892756A>C	VUS	1 lab	2ad00299fc
2:210678512 UNC80 A>G	2	210678512	210678512	A	G	UNC80	c.1147A>G	NM_001371986.1	NP_001358915.1:p.(Ser383Gly)	NC_000002.11:g.210678512A>G	(Likely) benign	1 lab	2ad040278c
10:37433983 ANKRD30A G>T	10	37433983	37433983	G	T	ANKRD30A	c.1454G>T	NM_052997.3	NP_443723.3:p.(Arg485Leu)	NC_000010.10:g.37433983G>T	(Likely) benign	1 lab	2ad110b6ef
1:11863171 MTHFR C>G	1	11863171	11863171	C	G	MTHFR	c.3G>C	NM_005957.5	NP_005948.3:p.(Met1?)	NC_000001.10:g.11863171C>G	VUS	1 lab	2ad1c7464f
7:105739674 SYPL1 T>A	7	105739674	105739674	T	A	SYPL1	c.124A>T	NM_182715.4	NP_874384.1:p.(Ile42Phe)	NC_000007.13:g.105739674T>A	VUS	1 lab	2ad26b464a
12:110226501 TRPV4 G>C	12	110226501	110226501	G	C	TRPV4	c.1912C>G	NM_021625.5	NP_067638.3:p.(Pro638Ala)	NC_000012.11:g.110226501G>C	(Likely) benign	1 lab	2ad38498f8
8:100221794 VPS13B AT>A	8	100221794	100221810	AT	A	VPS13B	c.2515+16525del	NM_152564.5	NP_689777.3:p.?	NC_000008.10:g.100221810del	(Likely) benign	1 lab	1cc2cccf00
19:49138861 DBP C>G	19	49138861	49138861	C	G	DBP	c.526G>C	NM_001352.5	NP_001343.2:p.(Gly176Arg)	NC_000019.9:g.49138861C>G	(Likely) benign	1 lab	2ad500a699
11:64453155 NRXN2 G>C	11	64453155	64453155	G	C	NRXN2	c.1115C>G	NM_015080.4	NP_055895.1:p.(Ala372Gly)	NC_000011.9:g.64453155G>C	VUS	1 lab	2ad7e88dd5
1:10502501 CENPS A>G	1	10502501	10502501	A	G	CENPS	c.*39A>G	NM_199294.3	NP_954988.1:p.?	NC_000001.10:g.10502501A>G	(Likely) benign	1 lab	2ada4189fb
1:155265347 PKLR A>G	1	155265347	155265347	A	G	PKLR	c.388T>C	NM_000298.6	NP_000289.1:p.(Ser130Pro)	NC_000001.10:g.155265347A>G	(Likely) pathogenic	1 lab	1cc5a01167
10:30915147 LYZL2 T>G	10	30915147	30915147	T	G	LYZL2	c.185A>C	NM_183058.3	NP_898881.3:p.(Gln62Pro)	NC_000010.10:g.30915147T>G	(Likely) benign	1 lab	2ade9246bb
6:47566976 CD2AP C>T	6	47566976	47566976	C	T	CD2AP	c.1275-61C>T	NM_012120.3	NP_036252.1:p.?	NC_000006.11:g.47566976C>T	(Likely) benign	1 lab	1cc68a18ec
3:25636114 RARB CAT>C	3	25636114	25636116	CAT	C	RARB	c.1096_1097del	NM_000965.5	NP_000956.2:p.(Met366ValfsTer13)	NC_000003.11:g.25636115_25636116del	(Likely) pathogenic	1 lab	2adeef8744
11:118938904 VPS11 G>C	11	118938904	118938904	G	C	VPS11	c.187+183G>C	NM_021729.6	NP_068375.3:p.?	NC_000011.9:g.118938904G>C	(Likely) benign	1 lab	2adf01de5e
1:212965080 NSL1 AC>A	1	212965080	212965082	AC	A	NSL1	c.25del	NM_015471.4	NP_056286.3:p.(Val9SerfsTer38)	NC_000001.10:g.212965082del	VUS	1 lab	2adf1d3140
1:19440233 UBR4 T>A	1	19440233	19440233	T	A	UBR4	c.11417A>T	NM_020765.3	NP_065816.2:p.(Asp3806Val)	NC_000001.10:g.19440233T>A	VUS	1 lab	2ae1536554
1:6845577 CAMTA1 C>CGAG	1	6845577	6845591	C	CGAG	CAMTA1	c.-2_1dup	NM_015215.4	NP_056030.1:p.(Met1?)	NC_000001.10:g.6845589_6845591dup	(Likely) benign	1 lab	2ae2518783
1:225600249 LBR G>A	1	225600249	225600249	G	A	LBR	c.991C>T	NM_002296.4	NP_002287.2:p.(Leu331Phe)	NC_000001.10:g.225600249G>A	VUS	1 lab	2ae5558c87
17:61994844 GH1 C>A	17	61994844	61994844	C	A	GH1	c.479G>T	NM_000515.5	NP_000506.2:p.(Arg160Leu)	NC_000017.10:g.61994844C>A	VUS	1 lab	2ae7e6cbde
2:240270173 HDAC4 C>T	2	240270173	240270173	C	T	HDAC4	c.22+4200G>A	NM_001378414.1	NP_001365343.1:p.?	NC_000002.11:g.240270173C>T	(Likely) benign	1 lab	2ae7fd107f
4:16192992 TAPT1 T>C	4	16192992	16192992	T	C	TAPT1	c.604A>G	NM_153365.3	NP_699196.2:p.(Met202Val)	NC_000004.11:g.16192992T>C	VUS	1 lab	2ae8ec23b3
21:47746441 PCNT A>G	21	47746441	47746441	A	G	PCNT	c.205A>G	NM_006031.6	NP_006022.3:p.(Ile69Val)	NC_000021.8:g.47746441A>G	(Likely) benign	1 lab	2ae9342f34
4:104107025 CENPE G>C	4	104107025	104107025	G	C	CENPE	c.694-7C>G	NM_001813.3	NP_001804.2:p.?	NC_000004.11:g.104107025G>C	(Likely) benign	1 lab	2ae93ea46f
7:128498280 FLNC CG>C	7	128498280	128498286	CG	C	FLNC	c.7990+15del	NM_001458.5	NP_001449.3:p.?	NC_000007.13:g.128498286del	(Likely) benign	1 lab	2aecfc5b28
16:2161472 PKD1 G>A	16	2161472	2161472	G	A	PKD1	c.3696C>T	NM_001009944.3	NP_001009944.3:p.(Ser1232=)	NC_000016.9:g.2161472G>A	(Likely) benign	1 lab	2aee7938b4
7:65557823 ASL T>C	7	65557823	65557823	T	C	ASL	c.1319T>C	NM_000048.4	NP_000039.2:p.(Leu440Pro)	NC_000007.13:g.65557823T>C	VUS	1 lab	2af0d9c129
16:139784 NPRL3 G>C	16	139784	139784	G	C	NPRL3	c.1278C>G	NM_001077350.3	NP_001070818.1:p.(Asp426Glu)	NC_000016.9:g.139784G>C	(Likely) benign	1 lab	2af2246f0f
11:117303854 DSCAML1 C>T	11	117303854	117303854	C	T	DSCAML1	c.5026G>A	NM_020693.4	NP_065744.3:p.(Gly1676Arg)	NC_000011.9:g.117303854C>T	VUS	1 lab	2af2e3ecaf
2:166152448 SCN2A C>T	2	166152448	166152448	C	T	SCN2A	c.115C>T	NM_001040142.2	NP_001035232.1:p.(Gln39Ter)	NC_000002.11:g.166152448C>T	VUS	1 lab	2af32c6cb9
14:94953780 SERPINA12 C>A	14	94953780	94953780	C	A	SERPINA12	c.1105G>T	NM_001382267.1	NP_001369196.1:p.(Ala369Ser)	NC_000014.8:g.94953780C>A	VUS	1 lab	2af557359c
2:179483133 TTN A>G	2	179483133	179483133	A	G	TTN	c.20232T>C	NM_133432.3	NP_597676.3:p.(Asp6744=)	NC_000002.11:g.179483133A>G	(Likely) benign	1 lab	1cc8ef58a9
16:2165979 PKD1 A>C	16	2165979	2165979	A	C	PKD1	c.1849+14T>G	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2165979A>C	(Likely) benign	1 lab	2af7af49a2
16:89347600 ANKRD11 A>G	16	89347600	89347600	A	G	ANKRD11	c.5350T>C	NM_013275.6	NP_037407.4:p.(Ser1784Pro)	NC_000016.9:g.89347600A>G	(Likely) benign	1 lab	2af906743d
2:178095913 NFE2L2 A>AT	2	178095913	178095919	A	AT	NFE2L2	c.1417dup	NM_006164.5	NP_006155.2:p.(Ile473AsnfsTer3)	NC_000002.11:g.178095919dup	VUS	1 lab	2af9b7759b
18:48510795 ELAC1 A>G	18	48510795	48510795	A	G	ELAC1	c.487A>G	NM_018696.3	NP_061166.1:p.(Asn163Asp)	NC_000018.9:g.48510795A>G	VUS	1 lab	2afac54579
5:161522499 GABRG2 A>G	5	161522499	161522499	A	G	GABRG2	c.260-2A>G	NM_198903.2	NP_944493.2:p.?	NC_000005.9:g.161522499A>G	(Likely) pathogenic	1 lab	1cc97bee10
15:56385862 RFX7 C>T	15	56385862	56385862	C	T	RFX7	c.4064G>A	NM_022841.7	NP_073752.6:p.(Ser1355Asn)	NC_000015.9:g.56385862C>T	(Likely) benign	1 lab	2afd8a7afe
19:47876902 DHX34 G>C	19	47876902	47876902	G	C	DHX34	c.2009G>C	NM_014681.6	NP_055496.2:p.(Arg670Pro)	NC_000019.9:g.47876902G>C	VUS	1 lab	2afea3a7c7
17:27065134 NEK8 G>A	17	27065134	27065134	G	A	NEK8	c.1093G>A	NM_178170.3	NP_835464.1:p.(Gly365Arg)	NC_000017.10:g.27065134G>A	VUS	1 lab	2b00a4d0b7
12:106820984 POLR3B C>T	12	106820984	106820984	C	T	POLR3B	c.1111C>T	NM_018082.6	NP_060552.4:p.(Leu371Phe)	NC_000012.11:g.106820984C>T	(Likely) benign	1 lab	2b0675c7ad
1:171605222 MYOC TA>T	1	171605222	171605224	TA	T	MYOC	c.1357del	NM_000261.2	NP_000252.1:p.(Tyr453MetfsTer11)	NC_000001.10:g.171605224del	VUS	1 lab	2b071fbc12
16:86546558 FOXF1 C>A	16	86546558	86546558	C	A	FOXF1	c.1007C>A	NM_001451.3	NP_001442.2:p.(Pro336His)	NC_000016.9:g.86546558C>A	VUS	1 lab	2b07a2def8
10:95287789 CEP55 C>A	10	95287789	95287789	C	A	CEP55	c.1274C>A	NM_018131.5	NP_060601.4:p.(Ser425Ter)	NC_000010.10:g.95287789C>A	(Likely) pathogenic	1 lab	2b081887dd
9:124062220 GSN G>A	9	124062220	124062220	G	A	GSN	c.-9-2021G>A	NM_198252.3	NP_937895.1:p.?	NC_000009.11:g.124062220G>A	(Likely) benign	1 lab	2b0fd2670f
4:25834624 SEL1L3 C>T	4	25834624	25834624	C	T	SEL1L3	c.1091G>A	NM_015187.5	NP_056002.2:p.(Gly364Glu)	NC_000004.11:g.25834624C>T	(Likely) benign	1 lab	2b10f8a606
4:6303548 WFS1 C>T	4	6303548	6303548	C	T	WFS1	c.2026C>T	NM_006005.3	NP_005996.2:p.(Arg676Cys)	NC_000004.11:g.6303548C>T	VUS	1 lab	2b1208d47d
8:144999049 PLEC G>A	8	144999049	144999049	G	A	PLEC	c.5048C>T	NM_201384.3	NP_958786.1:p.(Ala1683Val)	NC_000008.10:g.144999049G>A	VUS	1 lab	2b135eeece
16:1511478 CLCN7 G>T	16	1511478	1511478	G	T	CLCN7	c.286-7C>A	NM_001287.6	NP_001278.1:p.?	NC_000016.9:g.1511478G>T	VUS	1 lab	2b16484bd4
8:39634566 ADAM2 A>G	8	39634566	39634566	A	G	ADAM2	c.1006T>C	NM_001464.5	NP_001455.3:p.(Cys336Arg)	NC_000008.10:g.39634566A>G	VUS	1 lab	2b179b7fb1
X:69353856 IGBP1 G>C	X	69353856	69353856	G	C	IGBP1	c.59G>C	NM_001551.3	NP_001542.1:p.(Arg20Thr)	NC_000023.10:g.69353856G>C	VUS	1 lab	2b19d72af5
14:103434698 CDC42BPB G>T	14	103434698	103434698	G	T	CDC42BPB	c.2241-3C>A	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103434698G>T	VUS	1 lab	1c65bb6de5
7:128480744 FLNC C>T	7	128480744	128480744	C	T	FLNC	c.1676+16C>T	NM_001458.4	NP_001449.3:p.?	NC_000007.13:g.128480744C>T	(Likely) benign	1 lab	1ccd50a2b3
22:40036947 CACNA1I G>A	22	40036947	40036947	G	A	CACNA1I	c.816G>A	NM_021096.4	NP_066919.2:p.(Ser272=)	NC_000022.10:g.40036947G>A	(Likely) benign	1 lab	2b1bf39c09
9:130439024 STXBP1 G>A	9	130439024	130439024	G	A	STXBP1	c.1351G>A	NM_001032221.6	NP_001027392.1:p.(Val451Ile)	NC_000009.11:g.130439024G>A	(Likely) benign	1 lab	2b1c02a706
15:101567982 LRRK1 A>G	15	101567982	101567982	A	G	LRRK1	c.2666A>G	NM_024652.6	NP_078928.3:p.(Asp889Gly)	NC_000015.9:g.101567982A>G	VUS	1 lab	2b1c042bd6
2:202357642 CATSPERT G>C	2	202357642	202357642	G	C	CATSPERT	c.3422C>G	NM_001168221.2	NP_001161693.1:p.(Ser1141Ter)	NC_000002.11:g.202357642G>C	VUS	1 lab	2b1da78fae
11:118532376 TREH A>G	11	118532376	118532376	A	G	TREH	c.587T>C	NM_007180.3	NP_009111.2:p.(Met196Thr)	NC_000011.9:g.118532376A>G	VUS	1 lab	2b20ff2bb7
18:10704550 PIEZO2 G>C	18	10704550	10704550	G	C	PIEZO2	c.6100C>G	NM_001378183.1	NP_001365112.1:p.(Arg2034Gly)	NC_000018.9:g.10704550G>C	VUS	1 lab	2b215a3fdb
9:104335472 GRIN3A C>T	9	104335472	104335472	C	T	GRIN3A	c.3332G>A	NM_133445.3	NP_597702.2:p.(Arg1111Gln)	NC_000009.11:g.104335472C>T	VUS	1 lab	2b22612f9c
15:99472872 IGF1R C>T	15	99472872	99472872	C	T	IGF1R	c.2868C>T	NM_000875.5	NP_000866.1:p.(Tyr956=)	NC_000015.9:g.99472872C>T	(Likely) benign	1 lab	2b22c5a5b1
9:141012490 CACNA1B G>A	9	141012490	141012490	G	A	CACNA1B	c.5870G>A	NM_000718.4	NP_000709.1:p.(Arg1957His)	NC_000009.11:g.141012490G>A	(Likely) benign	1 lab	2b23034651
21:38309657 HLCS T>C	21	38309657	38309657	T	C	HLCS	c.529A>G	NM_001352514.2	NP_001339443.1:p.(Lys177Glu)	NC_000021.8:g.38309657T>C	VUS	1 lab	2b25a35fe3
3:132437959 NPHP3 A>AATTTCATT	3	132437959	132437967	A	AATTTCATT	NPHP3	c.541_548dup	NM_153240.5	NP_694972.3:p.(Gln184MetfsTer7)	NC_000003.11:g.132437960_132437967dup	(Likely) pathogenic	1 lab	1c6858f60b
3:13378363 NUP210 T>C	3	13378363	13378363	T	C	NUP210	c.3608A>G	NM_024923.4	NP_079199.2:p.(Asn1203Ser)	NC_000003.11:g.13378363T>C	VUS	1 lab	2b4761ae2e
16:2155917 PKD1 ATCGGCCTGC>A	16	2155917	2155926	ATCGGCCTGC	A	PKD1	c.7803_7811del	NM_001009944.3	NP_001009944.3:p.(Gln2602_Asp2604del)	NC_000016.9:g.2155918_2155926del	VUS	1 lab	2b29a2ab52
4:85674992 WDFY3 T>C	4	85674992	85674992	T	C	WDFY3	c.5597A>G	NM_014991.6	NP_055806.2:p.(Glu1866Gly)	NC_000004.11:g.85674992T>C	(Likely) benign	1 lab	2b2a40c10d
19:42830519 MEGF8 G>C	19	42830519	42830519	G	C	MEGF8	c.124G>C	NM_001271938.2	NP_001258867.1:p.(Gly42Arg)	NC_000019.9:g.42830519G>C	VUS	1 lab	2b2aaf6326
17:61995860 GH1 C>T	17	61995860	61995860	C	T	GH1	c.17G>A	NM_000515.5	NP_000506.2:p.(Arg6Gln)	NC_000017.10:g.61995860C>T	(Likely) benign	1 lab	2b2b13527f
20:45927700 ZMYND8 T>C	20	45927700	45927700	T	C	ZMYND8	c.235-9A>G	NM_001281775.3	NP_001268704.1:p.?	NC_000020.10:g.45927700T>C	(Likely) benign	1 lab	2b2c8523c2
20:10389398 MKKS C>A	20	10389398	10389398	C	A	MKKS	c.1039G>T	NM_170784.3	NP_740754.1:p.(Val347Leu)	NC_000020.10:g.10389398C>A	VUS	1 lab	2b2cbfa467
11:17485078 ABCC8 G>A	11	17485078	17485078	G	A	ABCC8	c.486C>T	NM_000352.6	NP_000343.2:p.(Ile162=)	NC_000011.9:g.17485078G>A	(Likely) benign	1 lab	2b2d80512f
16:31141459 KAT8 T>C	16	31141459	31141459	T	C	KAT8	c.893T>C	NM_032188.3	NP_115564.2:p.(Ile298Thr)	NC_000016.9:g.31141459T>C	VUS	1 lab	2c3abd88a4
3:52558126 STAB1 A>C	3	52558126	52558126	A	C	STAB1	c.7553A>C	NM_015136.3	NP_055951.2:p.(Asp2518Ala)	NC_000003.11:g.52558126A>C	(Likely) benign	1 lab	2b2f58c28d
1:228565208 OBSCN C>T	1	228565208	228565208	C	T	OBSCN	c.26169C>T	NM_001386125.1	NP_001373054.1:p.(Ser8723=)	NC_000001.10:g.228565208C>T	(Likely) benign	1 lab	2b2fb71471
3:132440955 NPHP3 G>T	3	132440955	132440955	G	T	NPHP3	c.245C>A	NM_153240.5	NP_694972.3:p.(Pro82Gln)	NC_000003.11:g.132440955G>T	VUS	1 lab	2b32d4707d
19:4511679 PLIN4 C>T	19	4511679	4511679	C	T	PLIN4	c.2293G>A	NM_001367868.2	NP_001354797.1:p.(Ala765Thr)	NC_000019.9:g.4511679C>T	(Likely) benign	1 lab	2b34a9f9ba
7:99687242 COPS6 T>TG	7	99687242	99687246	T	TG	COPS6	c.211dup	NM_006833.5	NP_006824.2:p.(Ala71GlyfsTer18)	NC_000007.13:g.99687246dup	VUS	1 lab	2b356c98ff
4:152097847 SH3D19 G>A	4	152097847	152097847	G	A	SH3D19	c.376-8C>T	NM_001378122.1	NP_001365051.1:p.?	NC_000004.11:g.152097847G>A	(Likely) benign	1 lab	2b35c863f5
17:10537333 MYH3 C>A	17	10537333	10537333	C	A	MYH3	c.4522+1G>T	NM_002470.4	NP_002461.2:p.?	NC_000017.10:g.10537333C>A	VUS	1 lab	2b35eae38f
1:1140871 TNFRSF18 G>A	1	1140871	1140871	G	A	TNFRSF18	c.189C>T	NM_004195.3	NP_004186.1:p.(Gly63=)	NC_000001.10:g.1140871G>A	(Likely) benign	1 lab	2b360dd3a9
16:88786310 PIEZO1 C>T	16	88786310	88786310	C	T	PIEZO1	c.6223G>A	NM_001142864.4	NP_001136336.2:p.(Ala2075Thr)	NC_000016.9:g.88786310C>T	(Likely) benign	1 lab	2b36b65bee
21:10910400 TPTE CTA>C	21	10910400	10910403	CTA	C	TPTE	c.1357-3_1357-2del	NM_199261.4	NP_954870.3:p.?	NC_000021.8:g.10910402_10910403del	(Likely) benign	1 lab	2b38fa3f9d
19:42855883 MEGF8 G>A	19	42855883	42855883	G	A	MEGF8	c.3071G>A	NM_001271938.2	NP_001258867.1:p.(Cys1024Tyr)	NC_000019.9:g.42855883G>A	VUS	1 lab	2b3a13123f
16:1836663 NUBP2 G>A	16	1836663	1836663	G	A	NUBP2	c.135+7G>A	NM_012225.4	NP_036357.1:p.?	NC_000016.9:g.1836663G>A	(Likely) benign	1 lab	2b3bfa8688
16:2812741 SRRM2 CAAA>C	16	2812741	2812744	CAAA	C	SRRM2	c.2213_2215del	NM_016333.4	NP_057417.3:p.(Gln738del)	NC_000016.9:g.2812742_2812744del	(Likely) benign	1 lab	2b3c9a1ca2
14:105412703 AHNAK2 C>G	14	105412703	105412703	C	G	AHNAK2	c.9085G>C	NM_138420.4	NP_612429.2:p.(Glu3029Gln)	NC_000014.8:g.105412703C>G	(Likely) benign	1 lab	2b3ddbd455
19:48814878 ODAD1 G>A	19	48814878	48814878	G	A	ODAD1	c.529C>T	NM_001364171.2	NP_001351100.1:p.(Arg177Trp)	NC_000019.9:g.48814878G>A	VUS	1 lab	2b5068a4a6
15:90213340 PLIN1 C>T	15	90213340	90213340	C	T	PLIN1	c.469G>A	NM_002666.5	NP_002657.3:p.(Ala157Thr)	NC_000015.9:g.90213340C>T	VUS	1 lab	2b3fcbf711
15:101719118 CHSY1 C>G	15	101719118	101719118	C	G	CHSY1	c.884G>C	NM_014918.5	NP_055733.2:p.(Ser295Thr)	NC_000015.9:g.101719118C>G	VUS	1 lab	2b408d36c9
7:1542543 INTS1 T>C	7	1542543	1542543	T	C	INTS1	c.343A>G	NM_001080453.3	NP_001073922.2:p.(Ile115Val)	NC_000007.13:g.1542543T>C	VUS	1 lab	2b41f90e37
18:6964719 LAMA1 T>G	18	6964719	6964719	T	G	LAMA1	c.7279A>C	NM_005559.4	NP_005550.2:p.(Asn2427His)	NC_000018.9:g.6964719T>G	(Likely) benign	1 lab	2b42d27232
2:3691557 COLEC11 T>C	2	3691557	3691557	T	C	COLEC11	c.665T>C	NM_024027.5	NP_076932.1:p.(Met222Thr)	NC_000002.11:g.3691557T>C	VUS	1 lab	2b43b621b4
4:170321797 NEK1 T>TTA	4	170321797	170321798	T	TTA	NEK1	c.3588_3589insTA	NM_001199397.3	NP_001186326.1:p.(Ser1197Ter)	NC_000004.11:g.170321797_170321798insTA	(Likely) pathogenic	1 lab	2b464eab87
12:53298463 KRT8 CTTG>C	12	53298463	53298472	CTTG	C	KRT8	c.300_302del	NM_002273.4	NP_002264.1:p.(Asn100del)	NC_000012.11:g.53298470_53298472del	VUS	1 lab	2b48fa0837
9:123929845 CNTRL G>A	9	123929845	123929845	G	A	CNTRL	c.5734G>A	NM_007018.6	NP_008949.4:p.(Ala1912Thr)	NC_000009.11:g.123929845G>A	(Likely) benign	1 lab	2b4ababdb6
19:11311023 DOCK6 C>T	19	11311023	11311023	C	T	DOCK6	c.6062G>A	NM_020812.4	NP_065863.2:p.(Arg2021His)	NC_000019.9:g.11311023C>T	VUS	1 lab	2b4ad08dcb
X:18668712 RS1 G>A	X	18668712	18668712	G	A	RS1	c.185-3260C>T	NM_000330.4	NP_000321.1:p.?	NC_000023.10:g.18668712G>A	(Likely) benign	1 lab	2b4bfe7136
16:88801396 PIEZO1 A>G	16	88801396	88801396	A	G	PIEZO1	c.1735T>C	NM_001142864.4	NP_001136336.2:p.(Tyr579His)	NC_000016.9:g.88801396A>G	VUS	1 lab	2b4e355483
1:11918303 NPPB C>T	1	11918303	11918303	C	T	NPPB	c.356G>A	NM_002521.3	NP_002512.1:p.(Arg119Gln)	NC_000001.10:g.11918303C>T	VUS	1 lab	2b4f164a12
X:154124460 F8 A>AGT	X	154124460	154124461	A	AGT	F8	c.6320_6321insAC	NM_000132.3	NP_000123.1:p.(Ala2108LeufsTer36)	NC_000023.10:g.154124460_154124461insGT	(Likely) pathogenic	1 lab	1ccf05ee5e
15:99478204 IGF1R C>T	15	99478204	99478204	C	T	IGF1R	c.3108C>T	NM_000875.5	NP_000866.1:p.(Asn1036=)	NC_000015.9:g.99478204C>T	(Likely) benign	1 lab	2b509e56bd
3:129285390 PLXND1 G>C	3	129285390	129285390	G	C	PLXND1	c.4171C>G	NM_015103.3	NP_055918.3:p.(Pro1391Ala)	NC_000003.11:g.129285390G>C	VUS	1 lab	2b523cc1e9
5:78181635 ARSB G>A	5	78181635	78181635	G	A	ARSB	c.914C>T	NM_000046.5	NP_000037.2:p.(Thr305Ile)	NC_000005.9:g.78181635G>A	VUS	1 lab	2b525b9a03
12:123320194 HIP1R AGCGGGCGGCGGGCG>A	12	123320194	123320226	AGCGGGCGGCGGGCG	A	HIP1R	c.93+23_93+36del	NM_003959.3	NP_003950.1:p.?	NC_000012.11:g.123320213_123320226del	(Likely) benign	1 lab	2b53aae153
3:62535796 CADPS A>G	3	62535796	62535796	A	G	CADPS	c.1754-6T>C	NM_003716.4	NP_003707.2:p.?	NC_000003.11:g.62535796A>G	(Likely) benign	1 lab	2b53d2fef5
7:139657478 TBXAS1 A>G	7	139657478	139657478	A	G	TBXAS1	c.734A>G	NM_001061.7	NP_001052.3:p.(Asn245Ser)	NC_000007.13:g.139657478A>G	VUS	1 lab	2b54daacac
9:88287602 AGTPBP1 T>TA	9	88287602	88287614	T	TA	AGTPBP1	c.437-7dup	NM_001330701.2	NP_001317630.1:p.?	NC_000009.11:g.88287614dup	(Likely) benign	1 lab	2b5878d3fd
1:155448549 ASH1L A>T	1	155448549	155448549	A	T	ASH1L	c.4112T>A	NM_018489.3	NP_060959.2:p.(Phe1371Tyr)	NC_000001.10:g.155448549A>T	VUS	1 lab	2b58d882ba
6:31931314 SKIC2 C>T	6	31931314	31931314	C	T	SKIC2	c.1528C>T	NM_006929.5	NP_008860.4:p.(Arg510Ter)	NC_000006.11:g.31931314C>T	(Likely) pathogenic	1 lab	1cd21ad62b
16:3707786 DNASE1 TC>T	16	3707786	3707788	TC	T	DNASE1	c.772del	NM_005223.4	NP_005214.2:p.(Gln258ArgfsTer6)	NC_000016.9:g.3707788del	(Likely) benign	1 lab	2b5d253bfd
1:235606067 TBCE T>A	1	235606067	235606067	T	A	TBCE	c.1340-100T>A	NM_001079515.2	NP_001072983.1:p.?	NC_000001.10:g.235606067T>A	(Likely) benign	1 lab	1cd2462ea0
2:152424921 NEB C>T	2	152424921	152424921	C	T	NEB	c.17645G>A	NM_001164508.2	NP_001157980.2:p.(Arg5882Gln)	NC_000002.11:g.152424921C>T	VUS	1 lab	2b60c8fc17
11:65487508 RNASEH2C C>T	11	65487508	65487508	C	T	RNASEH2C	c.468+8G>A	NM_032193.3	NP_115569.2:p.?	NC_000011.9:g.65487508C>T	(Likely) benign	1 lab	1cd33bc05e
12:109629654 ACACB G>A	12	109629654	109629654	G	A	ACACB	c.2298G>A	NM_001093.4	NP_001084.3:p.(Ala766=)	NC_000012.11:g.109629654G>A	(Likely) benign	1 lab	2b645fcde3
9:124081050 GSN C>T	9	124081050	124081050	C	T	GSN	c.1083C>T	NM_198252.3	NP_937895.1:p.(Ser361=)	NC_000009.11:g.124081050C>T	(Likely) benign	1 lab	2b65b1d407
X:153132124 L1CAM A>G	X	153132124	153132124	A	G	L1CAM	c.2411T>C	NM_000425.5	NP_000416.1:p.(Ile804Thr)	NC_000023.10:g.153132124A>G	VUS	1 lab	1c6e46563a
7:42064899 GLI3 A>G	7	42064899	42064899	A	G	GLI3	c.1320T>C	NM_000168.6	NP_000159.3:p.(Asp440=)	NC_000007.13:g.42064899A>G	(Likely) benign	1 lab	1cd33c6028
10:23728752 OTUD1 C>G	10	23728752	23728752	C	G	OTUD1	c.366C>G	NM_001145373.3	NP_001138845.1:p.(Asp122Glu)	NC_000010.10:g.23728752C>G	VUS	1 lab	2b6a1df8e1
2:143790802 KYNU C>G	2	143790802	143790802	C	G	KYNU	c.956-3C>G	NM_003937.3	NP_003928.1:p.?	NC_000002.11:g.143790802C>G	VUS	1 lab	2b6ad38bfa
X:134994960 SAGE1 TA>T	X	134994960	134994966	TA	T	SAGE1	c.2625del	NM_001381902.1	NP_001368831.1:p.(Val876LeufsTer3)	NC_000023.10:g.134994966del	VUS	1 lab	2b6b6df96d
22:41564588 EP300 C>G	22	41564588	41564588	C	G	EP300	c.4010C>G	NM_001429.4	NP_001420.2:p.(Pro1337Arg)	NC_000022.10:g.41564588C>G	VUS	1 lab	2b6c30b90a
10:28884820 WAC A>G	10	28884820	28884820	A	G	WAC	c.769A>G	NM_016628.5	NP_057712.2:p.(Thr257Ala)	NC_000010.10:g.28884820A>G	(Likely) benign	1 lab	2b6c73af67
8:2836170 CSMD1 T>C	8	2836170	2836170	T	C	CSMD1	c.8530A>G	NM_033225.6	NP_150094.5:p.(Asn2844Asp)	NC_000008.10:g.2836170T>C	VUS	1 lab	2b6d415ae5
2:73835676 ALMS1 G>A	2	73835676	73835676	G	A	ALMS1	c.12437G>A	NM_001378454.1	NP_001365383.1:p.(Arg4146Gln)	NC_000002.11:g.73835676G>A	VUS	1 lab	2b6e527968
7:100275116 GNB2 C>T	7	100275116	100275116	C	T	GNB2	c.268-5C>T	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100275116C>T	(Likely) benign	1 lab	2b7019a28f
15:28473513 HERC2 G>A	15	28473513	28473513	G	A	HERC2	c.5315C>T	NM_004667.6	NP_004658.3:p.(Pro1772Leu)	NC_000015.9:g.28473513G>A	(Likely) benign	1 lab	2b703f72c6
10:61846521 ANK3 G>A	10	61846521	61846521	G	A	ANK3	c.3662C>T	NM_020987.5	NP_066267.2:p.(Pro1221Leu)	NC_000010.10:g.61846521G>A	VUS	1 lab	2b71476e7b
1:15957003 DDI2 T>C	1	15957003	15957003	T	C	DDI2	c.452T>C	NM_032341.5	NP_115717.3:p.(Leu151Ser)	NC_000001.10:g.15957003T>C	VUS	1 lab	2b71ba5944
5:893190 TRIP13 A>C	5	893190	893190	A	C	TRIP13	c.77A>C	NM_004237.4	NP_004228.1:p.(His26Pro)	NC_000005.9:g.893190A>C	VUS	1 lab	2b71c9e3ee
1:235634207 B3GALNT2 T>G	1	235634207	235634207	T	G	B3GALNT2	c.719A>C	NM_152490.5	NP_689703.1:p.(Lys240Thr)	NC_000001.10:g.235634207T>G	VUS	1 lab	2b725253ca
12:2224480 CACNA1C G>A	12	2224480	2224480	G	A	CACNA1C	c.140G>A	NM_000719.7	NP_000710.5:p.(Gly47Glu)	NC_000012.11:g.2224480G>A	VUS	1 lab	2b7259e88c
3:154033885 DHX36 G>A	3	154033885	154033885	G	A	DHX36	c.311C>T	NM_020865.3	NP_065916.2:p.(Ala104Val)	NC_000003.11:g.154033885G>A	(Likely) benign	1 lab	2b735ccd93
12:104119938 STAB2 G>T	12	104119938	104119938	G	T	STAB2	c.4848G>T	NM_017564.10	NP_060034.9:p.(Leu1616Phe)	NC_000012.11:g.104119938G>T	VUS	1 lab	2b73d49def
15:33358942 FMN1 C>T	15	33358942	33358942	C	T	FMN1	c.2044-1667G>A	NM_001277313.2	NP_001264242.1:p.?	NC_000015.9:g.33358942C>T	(Likely) benign	1 lab	2b7471207a
8:145151237 CYC1 C>CAGGTGG	8	145151237	145151247	C	CAGGTGG	CYC1	c.456_461dup	NM_001916.5	NP_001907.3:p.(Glu153_Val154dup)	NC_000008.10:g.145151242_145151247dup	VUS	1 lab	2b77213cdf
19:7142909 INSR G>A	19	7142909	7142909	G	A	INSR	c.2460C>T	NM_000208.4	NP_000199.2:p.(Ile820=)	NC_000019.9:g.7142909G>A	(Likely) benign	1 lab	2b79d73688
4:83788088 SEC31A T>A	4	83788088	83788088	T	A	SEC31A	c.1070A>T	NM_001077207.4	NP_001070675.1:p.(Asp357Val)	NC_000004.11:g.83788088T>A	VUS	1 lab	2b7a03c61e
3:33156047 CRTAP C>T	3	33156047	33156047	C	T	CRTAP	c.471+7C>T	NM_006371.5	NP_006362.1:p.?	NC_000003.11:g.33156047C>T	(Likely) benign	1 lab	2b7a42304b
19:18976849 UPF1 T>G	19	18976849	18976849	T	G	UPF1	c.3238-4T>G	NM_002911.4	NP_002902.2:p.?	NC_000019.9:g.18976849T>G	(Likely) benign	1 lab	2b7c199c4d
1:43885517 SZT2 C>T	1	43885517	43885517	C	T	SZT2	c.992C>T	NM_001365999.1	NP_001352928.1:p.(Pro331Leu)	NC_000001.10:g.43885517C>T	VUS	1 lab	2b7c800652
5:140307237 PCDHAC1 C>T	5	140307237	140307237	C	T	PCDHAC1	c.760C>T	NM_018898.5	NP_061721.2:p.(Arg254Ter)	NC_000005.9:g.140307237C>T	VUS	1 lab	2b803e5b0a
17:61994726 GH1 G>C	17	61994726	61994726	G	C	GH1	c.597C>G	NM_000515.5	NP_000506.2:p.(Val199=)	NC_000017.10:g.61994726G>C	(Likely) benign	1 lab	2b816318d3
16:2164529 PKD1 CG>C	16	2164529	2164535	CG	C	PKD1	c.2494del	NM_001009944.3	NP_001009944.3:p.(Arg832AlafsTer66)	NC_000016.9:g.2164535del	(Likely) pathogenic	1 lab	1cd3f21a57
1:61824926 NFIA G>C	1	61824926	61824926	G	C	NFIA	c.926G>C	NM_001134673.4	NP_001128145.1:p.(Gly309Ala)	NC_000001.10:g.61824926G>C	(Likely) benign	1 lab	2b82b2cb39
18:43462450 EPG5 G>A	18	43462450	43462450	G	A	EPG5	c.5307C>T	NM_020964.3	NP_066015.2:p.(Phe1769=)	NC_000018.9:g.43462450G>A	(Likely) benign	1 lab	2b8373e076
X:100667745 HNRNPH2 T>A	X	100667745	100667745	T	A	HNRNPH2	c.769T>A	NM_019597.5	NP_062543.1:p.(Ser257Thr)	NC_000023.10:g.100667745T>A	(Likely) benign	1 lab	2b838521f9
2:74458397 SLC4A5 G>A	2	74458397	74458397	G	A	SLC4A5	c.2813C>T	NM_133478.3	NP_597812.1:p.(Thr938Met)	NC_000002.11:g.74458397G>A	(Likely) benign	1 lab	2b86b5e606
11:62290906 AHNAK C>T	11	62290906	62290906	C	T	AHNAK	c.10983G>A	NM_001620.3	NP_001611.1:p.(Met3661Ile)	NC_000011.9:g.62290906C>T	VUS	1 lab	2b8c028252
16:53709023 RPGRIP1L C>T	16	53709023	53709023	C	T	RPGRIP1L	c.788G>A	NM_015272.5	NP_056087.2:p.(Arg263Gln)	NC_000016.9:g.53709023C>T	VUS	1 lab	2b8c0854a2
17:39186023 KRTAP1-4 C>T	17	39186023	39186023	C	T	KRTAP1-4	c.308G>A	NM_001257305.2	NP_001244234.1:p.(Cys103Tyr)	NC_000017.10:g.39186023C>T	VUS	1 lab	2b8d593af4
6:38897445 DNAH8 G>T	6	38897445	38897445	G	T	DNAH8	c.11274+3G>T	NM_001206927.2	NP_001193856.1:p.?	NC_000006.11:g.38897445G>T	VUS	1 lab	2b8df96a01
13:32914840 BRCA2 CTG>C	13	32914840	32914845	CTG	C	BRCA2	c.6352_6353del	NM_000059.4	NP_000050.3:p.(Val2118LysfsTer10)	NC_000013.10:g.32914844_32914845del	(Likely) pathogenic	1 lab	1c6eb591ba
5:71494161 MAP1B T>C	5	71494161	71494161	T	C	MAP1B	c.4979T>C	NM_005909.5	NP_005900.2:p.(Met1660Thr)	NC_000005.9:g.71494161T>C	VUS	1 lab	2b8eb763f9
16:2140596 PKD1 G>A	16	2140596	2140596	G	A	PKD1	c.12139-5C>T	NM_001009944.3	NP_001009944.3:p.?	NC_000016.9:g.2140596G>A	(Likely) benign	1 lab	2b8ebe139b
9:137660309 COL5A1 G>A	9	137660309	137660309	G	A	COL5A1	c.2286G>A	NM_000093.5	NP_000084.3:p.(Pro762=)	NC_000009.11:g.137660309G>A	(Likely) benign	1 lab	2b8ef59df0
9:5773954 RIC1 A>G	9	5773954	5773954	A	G	RIC1	c.3984-4A>G	NM_020829.4	NP_065880.2:p.?	NC_000009.11:g.5773954A>G	(Likely) benign	1 lab	2b90395600
7:103126831 RELN G>A	7	103126831	103126831	G	A	RELN	c.9796C>T	NM_005045.4	NP_005036.2:p.(Pro3266Ser)	NC_000007.13:g.103126831G>A	VUS	1 lab	2b90486eb2
20:41419898 PTPRT G>A	20	41419898	41419898	G	A	PTPRT	c.423C>T	NM_007050.6	NP_008981.4:p.(Val141=)	NC_000020.10:g.41419898G>A	VUS	1 lab	2b90515e15
13:103527930 ERCC5 G>T	13	103527930	103527930	G	T	ERCC5	c.3238G>T	NM_000123.4	NP_000114.3:p.(Gly1080Ter)	NC_000013.10:g.103527930G>T	VUS	1 lab	2b90888826
1:22157498 HSPG2 G>C	1	22157498	22157498	G	C	HSPG2	c.11648C>G	NM_005529.7	NP_005520.4:p.(Ser3883Trp)	NC_000001.10:g.22157498G>C	(Likely) benign	1 lab	2b92b29aeb
19:651741 RNF126 C>T	19	651741	651741	C	T	RNF126	c.313G>A	NM_194460.3	NP_919442.1:p.(Gly105Ser)	NC_000019.9:g.651741C>T	(Likely) benign	1 lab	2b967304f4
13:28498705 PDX1 C>G	13	28498705	28498705	C	G	PDX1	c.719C>G	NM_000209.4	NP_000200.1:p.(Pro240Arg)	NC_000013.10:g.28498705C>G	VUS	1 lab	2b9798491c
2:233387763 PRSS56 C>T	2	233387763	233387763	C	T	PRSS56	c.707-7C>T	NM_001195129.2	NP_001182058.1:p.?	NC_000002.11:g.233387763C>T	(Likely) benign	1 lab	2b9803cc38
14:58955530 KIAA0586 T>C	14	58955530	58955530	T	C	KIAA0586	c.3719T>C	NM_001329943.3	NP_001316872.1:p.(Leu1240Ser)	NC_000014.8:g.58955530T>C	(Likely) benign	1 lab	2b9914bc7f
9:35808762 NPR2 T>C	9	35808762	35808762	T	C	NPR2	c.2898T>C	NM_003995.4	NP_003986.2:p.(Cys966=)	NC_000009.11:g.35808762T>C	(Likely) benign	1 lab	2b99355cc9
14:39790242 MIA2 C>T	14	39790242	39790242	C	T	MIA2	c.3478C>T	NM_001329214.4	NP_001316143.1:p.(Pro1160Ser)	NC_000014.8:g.39790242C>T	VUS	1 lab	2b9a0f551a
19:50939376 MYBPC2 G>A	19	50939376	50939376	G	A	MYBPC2	c.304G>A	NM_004533.4	NP_004524.3:p.(Ala102Thr)	NC_000019.9:g.50939376G>A	(Likely) benign	1 lab	2b9ab06139
3:172166080 GHSR G>C	3	172166080	172166080	G	C	GHSR	c.124C>G	NM_198407.2	NP_940799.1:p.(Leu42Val)	NC_000003.11:g.172166080G>C	(Likely) benign	1 lab	2b9ad7ce64
21:34922300 SON C>G	21	34922300	34922300	C	G	SON	c.763C>G	NM_138927.4	NP_620305.3:p.(Leu255Val)	NC_000021.8:g.34922300C>G	(Likely) benign	1 lab	2b9afb9f04
3:52436624 BAP1 G>A	3	52436624	52436624	G	A	BAP1	c.2050C>T	NM_004656.4	NP_004647.1:p.(Gln684Ter)	NC_000003.11:g.52436624G>A	(Likely) pathogenic	1 lab	2b9c28edba
1:1688560 NADK G>C	1	1688560	1688560	G	C	NADK	c.393+60C>G	NM_023018.5	NP_075394.3:p.?	NC_000001.10:g.1688560G>C	(Likely) benign	1 lab	2b9c697f37
8:68430236 CPA6 G>T	8	68430236	68430236	G	T	CPA6	c.239C>A	NM_020361.5	NP_065094.3:p.(Thr80Lys)	NC_000008.10:g.68430236G>T	(Likely) benign	1 lab	2b9c7e6808
1:76215215 ACADM A>G	1	76215215	76215215	A	G	ACADM	c.820A>G	NM_000016.6	NP_000007.1:p.(Met274Val)	NC_000001.10:g.76215215A>G	VUS	1 lab	2b9ce9325f
16:1825407 EME2 G>A	16	1825407	1825407	G	A	EME2	c.661G>A	NM_001257370.2	NP_001244299.1:p.(Glu221Lys)	NC_000016.9:g.1825407G>A	(Likely) benign	1 lab	2b9e72cd7c
7:101196627 COL26A1 GGAA>G	7	101196627	101196634	GGAA	G	COL26A1	c.1055_1057del	NM_001278563.3	NP_001265492.1:p.(Glu352del)	NC_000007.13:g.101196632_101196634del	VUS	1 lab	2ba01e9c85
1:214819445 CENPF G>A	1	214819445	214819445	G	A	CENPF	c.6532G>A	NM_016343.4	NP_057427.3:p.(Glu2178Lys)	NC_000001.10:g.214819445G>A	VUS	1 lab	2ba31507b9
4:187003691 TLR3 A>T	4	187003691	187003691	A	T	TLR3	c.851A>T	NM_003265.3	NP_003256.1:p.(Asn284Ile)	NC_000004.11:g.187003691A>T	VUS	1 lab	2ba55fa87e
15:57565347 TCF12 A>G	15	57565347	57565347	A	G	TCF12	c.1865A>G	NM_207037.2	NP_996920.1:p.(Lys622Arg)	NC_000015.9:g.57565347A>G	VUS	1 lab	2ba636c9c9
7:4188947 SDK1 C>T	7	4188947	4188947	C	T	SDK1	c.4477C>T	NM_152744.4	NP_689957.3:p.(Arg1493Cys)	NC_000007.13:g.4188947C>T	VUS	1 lab	2ba7b8e66b
14:35872961 NFKBIA T>G	14	35872961	35872961	T	G	NFKBIA	c.271A>C	NM_020529.3	NP_065390.1:p.(Met91Leu)	NC_000014.8:g.35872961T>G	(Likely) benign	1 lab	2ba7d78af8
16:72828129 ZFHX3 T>C	16	72828129	72828129	T	C	ZFHX3	c.8452A>G	NM_006885.4	NP_008816.3:p.(Met2818Val)	NC_000016.9:g.72828129T>C	VUS	1 lab	1c71fb9b00
16:89337293 ANKRD11 C>T	16	89337293	89337293	C	T	ANKRD11	c.7738G>A	NM_013275.6	NP_037407.4:p.(Asp2580Asn)	NC_000016.9:g.89337293C>T	VUS	1 lab	2ba9e79e4a
22:24761603 SPECC1L A>G	22	24761603	24761603	A	G	SPECC1L	c.2984+3A>G	NM_015330.6	NP_056145.5:p.?	NC_000022.10:g.24761603A>G	VUS	1 lab	2baab01391
1:153234152 LORICRIN A>AGCGGCGGGG	1	153234152	153234169	A	AGCGGCGGGG	LORICRIN	c.736_744dup	NM_000427.3	NP_000418.2:p.(Gly246_Gly248dup)	NC_000001.10:g.153234161_153234169dup	VUS	1 lab	2bac8c50f1
10:50686425 ERCC6 A>G	10	50686425	50686425	A	G	ERCC6	c.2261T>C	NM_000124.4	NP_000115.1:p.(Leu754Pro)	NC_000010.10:g.50686425A>G	VUS	1 lab	2badd1fa5e
4:15560831 CC2D2A A>C	4	15560831	15560831	A	C	CC2D2A	c.2873A>C	NM_001378615.1	NP_001365544.1:p.(Lys958Thr)	NC_000004.11:g.15560831A>C	VUS	1 lab	2baeaf09de
1:226016576 EPHX1 G>A	1	226016576	226016576	G	A	EPHX1	c.146G>A	NM_001291163.2	NP_001278092.1:p.(Arg49His)	NC_000001.10:g.226016576G>A	VUS	1 lab	1c73462850
2:172569334 DYNC1I2 G>T	2	172569334	172569334	G	T	DYNC1I2	c.393G>T	NM_001378.3	NP_001369.1:p.(Leu131Phe)	NC_000002.11:g.172569334G>T	VUS	1 lab	2bb0648af3
12:96131832 NTN4 C>T	12	96131832	96131832	C	T	NTN4	c.676G>A	NM_021229.4	NP_067052.2:p.(Val226Met)	NC_000012.11:g.96131832C>T	VUS	1 lab	2be0538c1f
16:89346133 ANKRD11 C>T	16	89346133	89346133	C	T	ANKRD11	c.6817G>A	NM_013275.6	NP_037407.4:p.(Gly2273Ser)	NC_000016.9:g.89346133C>T	(Likely) benign	1 lab	2bb06a8697
1:22161303 HSPG2 C>T	1	22161303	22161303	C	T	HSPG2	c.10589G>A	NM_005529.7	NP_005520.4:p.(Arg3530Gln)	NC_000001.10:g.22161303C>T	VUS	1 lab	2bb08ae9a5
21:33068973 SCAF4 G>T	21	33068973	33068973	G	T	SCAF4	c.868C>A	NM_020706.2	NP_065757.1:p.(Pro290Thr)	NC_000021.8:g.33068973G>T	(Likely) benign	1 lab	2bb29e0a03
8:61767026 CHD7 C>A	8	61767026	61767026	C	A	CHD7	c.6880C>A	NM_017780.4	NP_060250.2:p.(Pro2294Thr)	NC_000008.10:g.61767026C>A	VUS	1 lab	2bb51ec0af
X:152986404 BCAP31 C>T	X	152986404	152986404	C	T	BCAP31	c.116G>A	NM_001256447.2	NP_001243376.1:p.(Arg39Gln)	NC_000023.10:g.152986404C>T	VUS	1 lab	2bb5cd978b
2:220432584 OBSL1 C>A	2	220432584	220432584	C	A	OBSL1	c.1390G>T	NM_015311.3	NP_056126.1:p.(Asp464Tyr)	NC_000002.11:g.220432584C>A	VUS	1 lab	2bb7118046
20:60889385 LAMA5 G>T	20	60889385	60889385	G	T	LAMA5	c.8479C>A	NM_005560.6	NP_005551.3:p.(Gln2827Lys)	NC_000020.10:g.60889385G>T	(Likely) benign	1 lab	2bb799444f
14:92412862 FBLN5 GCACA>G	14	92412862	92412885	GCACA	G	FBLN5	c.17+691_17+694del	NM_006329.4	NP_006320.2:p.?	NC_000014.8:g.92412882_92412885del	VUS	1 lab	2bb8a770e6
19:46283173 DMPK C>T	19	46283173	46283173	C	T	DMPK	c.161-46G>A	NM_004409.5	NP_004400.4:p.?	NC_000019.9:g.46283173C>T	(Likely) benign	1 lab	2bba8089d4
8:119122648 EXT1 TG>T	8	119122648	119122650	TG	T	EXT1	c.637del	NM_000127.3	NP_000118.2:p.(Gln213ArgfsTer39)	NC_000008.10:g.119122650del	(Likely) pathogenic	1 lab	2bbc2d75f9
1:85666162 SYDE2 T>A	1	85666162	85666162	T	A	SYDE2	c.518A>T	NM_032184.2	NP_115560.1:p.(Asp173Val)	NC_000001.10:g.85666162T>A	VUS	1 lab	2bbc4921c5
X:152612645 ZNF275 G>A	X	152612645	152612645	G	A	ZNF275	c.502G>A	NM_001367757.1	NP_001354686.1:p.(Ala168Thr)	NC_000023.10:g.152612645G>A	VUS	1 lab	2bbd2417df
1:100573274 SASS6 CTGATA>C	1	100573274	100573280	CTGATA	C	SASS6	c.1057-6_1057-2del	NM_194292.3	NP_919268.1:p.?	NC_000001.10:g.100573276_100573280del	VUS	1 lab	2bbe74eac7
1:3807198 C1orf174 G>T	1	3807198	3807198	G	T	C1orf174	c.553C>A	NM_207356.3	NP_997239.2:p.(Leu185Ile)	NC_000001.10:g.3807198G>T	(Likely) benign	1 lab	2bbef12dd7
14:24727544 TGM1 G>C	14	24727544	24727544	G	C	TGM1	c.1349C>G	NM_000359.3	NP_000350.1:p.(Ser450Trp)	NC_000014.8:g.24727544G>C	VUS	1 lab	2bbf385899
11:17426202 ABCC8 C>T	11	17426202	17426202	C	T	ABCC8	c.3414G>A	NM_000352.6	NP_000343.2:p.(Thr1138=)	NC_000011.9:g.17426202C>T	(Likely) benign	1 lab	2bc139afbe
3:158178716 RSRC1 T>C	3	158178716	158178716	T	C	RSRC1	c.584-8T>C	NM_001271838.2	NP_001258767.1:p.?	NC_000003.11:g.158178716T>C	(Likely) benign	1 lab	2bc2a3e78b
17:44248618 KANSL1 C>T	17	44248618	44248618	C	T	KANSL1	c.892G>A	NM_015443.4	NP_056258.1:p.(Ala298Thr)	NC_000017.10:g.44248618C>T	VUS	1 lab	2bc3641b70
11:64026620 PLCB3 G>T	11	64026620	64026620	G	T	PLCB3	c.1429G>T	NM_000932.5	NP_000923.1:p.(Gly477Cys)	NC_000011.9:g.64026620G>T	VUS	1 lab	2bc3771680
12:53776662 SP1 G>T	12	53776662	53776662	G	T	SP1	c.931G>T	NM_138473.3	NP_612482.2:p.(Val311Leu)	NC_000012.11:g.53776662G>T	VUS	1 lab	1c75a246e1
7:158449133 NCAPG2 A>G	7	158449133	158449133	A	G	NCAPG2	c.2215-8T>C	NM_017760.7	NP_060230.5:p.?	NC_000007.13:g.158449133A>G	(Likely) benign	1 lab	2bc6e94f43
2:179578004 TTN G>A	2	179578004	179578004	G	A	TTN	c.26857C>T	NM_001267550.2	NP_001254479.2:p.(Pro8953Ser)	NC_000002.11:g.179578004G>A	VUS	1 lab	2bc7368c75
19:34967137 MISSING C>T	19	34967137	34967137	C	T	MISSING				NC_000019.9:g.34967137C>T	VUS	1 lab	2bc76db324
17:7752305 KDM6B CA>C	17	7752305	7752306	CA	C	KDM6B	c.2700del	NM_001348716.2	NP_001335645.1:p.(Leu902TyrfsTer13)	NC_000017.10:g.7752306del	(Likely) benign	1 lab	2bc88fee5c
12:102057305 MYBPC1 G>A	12	102057305	102057305	G	A	MYBPC1	c.2323G>A	NM_002465.4	NP_002456.2:p.(Asp775Asn)	NC_000012.11:g.102057305G>A	VUS	1 lab	2bc9075347
X:73811712 RLIM T>C	X	73811712	73811712	T	C	RLIM	c.1438A>G	NM_016120.4	NP_057204.2:p.(Ser480Gly)	NC_000023.10:g.73811712T>C	VUS	1 lab	2bc98e8e1d
2:240061430 HDAC4 C>T	2	240061430	240061430	C	T	HDAC4	c.928G>A	NM_001378414.1	NP_001365343.1:p.(Val310Ile)	NC_000002.11:g.240061430C>T	VUS	1 lab	2bcd614ada
5:139219739 PSD2 A>G	5	139219739	139219739	A	G	PSD2	c.2096A>G	NM_032289.4	NP_115665.1:p.(His699Arg)	NC_000005.9:g.139219739A>G	VUS	1 lab	2bce004e1b
21:43256747 PRDM15 T>C	21	43256747	43256747	T	C	PRDM15	c.1013A>G	NM_001040424.3	NP_001035514.2:p.(His338Arg)	NC_000021.8:g.43256747T>C	VUS	1 lab	2bcf2e300b
16:3778438 CREBBP G>GC	16	3778438	3778439	G	GC	CREBBP	c.6609_6610insG	NM_004380.3	NP_004371.2:p.(Gln2204AlafsTer137)	NC_000016.9:g.3778438_3778439insC	VUS	1 lab	2bd05e0534
2:230638870 TRIP12 C>CA	2	230638870	230638871	C	CA	TRIP12	c.5636dup	NM_001348323.3	NP_001335252.1:p.(Lys1880GlufsTer28)	NC_000002.11:g.230638871dup	(Likely) pathogenic	1 lab	2bd1a4f96f
17:34893596 PIGW C>T	17	34893596	34893596	C	T	PIGW	c.646C>T	NM_001346754.2	NP_001333683.1:p.(Arg216Ter)	NC_000017.10:g.34893596C>T	VUS	1 lab	2bd1cf7ffe
7:104717640 KMT2E G>A	7	104717640	104717640	G	A	KMT2E	c.999G>A	NM_182931.3	NP_891847.1:p.(Glu333=)	NC_000007.13:g.104717640G>A	VUS	1 lab	2bd2e64925
18:10699130 PIEZO2 C>T	18	10699130	10699130	C	T	PIEZO2	c.6487G>A	NM_001378183.1	NP_001365112.1:p.(Ala2163Thr)	NC_000018.9:g.10699130C>T	VUS	1 lab	2bd3aa1b67
6:29641220 ZFP57 C>T	6	29641220	29641220	C	T	ZFP57	c.668G>A	NM_001109809.5	NP_001103279.2:p.(Arg223His)	NC_000006.11:g.29641220C>T	(Likely) benign	1 lab	2bd43cfc1b
X:71427042 ERCC6L T>C	X	71427042	71427042	T	C	ERCC6L	c.1575A>G	NM_017669.4	NP_060139.2:p.(Gln525=)	NC_000023.10:g.71427042T>C	VUS	1 lab	2bd6f8b2e8
8:96053782 NDUFAF6 GCT>G	8	96053782	96053786	GCT	G	NDUFAF6	c.421-13_421-12del	NM_152416.4	NP_689629.2:p.?	NC_000008.10:g.96053785_96053786del	(Likely) benign	1 lab	1c76150300
14:76099967 FLVCR2 T>C	14	76099967	76099967	T	C	FLVCR2	c.953-5T>C	NM_017791.3	NP_060261.2:p.?	NC_000014.8:g.76099967T>C	(Likely) benign	1 lab	2bd83503ea
18:13099568 CEP192 C>T	18	13099568	13099568	C	T	CEP192	c.6651C>T	NM_032142.4	NP_115518.3:p.(Asp2217=)	NC_000018.9:g.13099568C>T	(Likely) benign	1 lab	2bd8c06558
14:89171288 EML5 T>C	14	89171288	89171288	T	C	EML5	c.1967A>G	NM_183387.3	NP_899243.1:p.(Gln656Arg)	NC_000014.8:g.89171288T>C	(Likely) benign	1 lab	2bd943d139
20:3065214 AVP A>G	20	3065214	3065214	A	G	AVP	c.107T>C	NM_000490.5	NP_000481.2:p.(Leu36Pro)	NC_000020.10:g.3065214A>G	VUS	1 lab	2bd9b044e8
8:144993058 PLEC C>T	8	144993058	144993058	C	T	PLEC	c.10931G>A	NM_201384.3	NP_958786.1:p.(Arg3644His)	NC_000008.10:g.144993058C>T	VUS	1 lab	2bdcc7013a
7:92764071 SAMD9L T>G	7	92764071	92764071	T	G	SAMD9L	c.1214A>C	NM_152703.5	NP_689916.2:p.(Asn405Thr)	NC_000007.13:g.92764071T>G	(Likely) benign	1 lab	1cdc3af0be
13:103266536 TPP2 A>C	13	103266536	103266536	A	C	TPP2	c.380A>C	NM_001330588.2	NP_001317517.1:p.(Glu127Ala)	NC_000013.10:g.103266536A>C	VUS	1 lab	2bdfce8403
X:69503181 RAB41 A>T	X	69503181	69503181	A	T	RAB41	c.301A>T	NM_001363807.1	NP_001350736.1:p.(Ile101Phe)	NC_000023.10:g.69503181A>T	VUS	1 lab	2be5aced58
13:32912889 BRCA2 T>G	13	32912889	32912889	T	G	BRCA2	c.4397T>G	NM_000059.4	NP_000050.3:p.(Leu1466Ter)	NC_000013.10:g.32912889T>G	(Likely) pathogenic	1 lab	2bec931e2a
X:153586935 FLNA G>GCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCT	X	153586935	153586978	G	GCCTGGCCCCAGCCCCAGGGACAGAGCATCAGCTAGTCT	FLNA	c.4475-37_4475dup	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153586941_153586978dup	VUS	1 lab	2bdfcfe5bb
9:135947056 CEL C>G	9	135947056	135947056	C	G	CEL	c.2167C>G	NM_001807.6	NP_001798.3:p.(Pro723Ala)	NC_000009.11:g.135947056C>G	(Likely) benign	1 lab	2be0234369
17:73500973 CASKIN2 G>A	17	73500973	73500973	G	A	CASKIN2	c.1112C>T	NM_020753.5	NP_065804.2:p.(Pro371Leu)	NC_000017.10:g.73500973G>A	(Likely) benign	1 lab	2be0447919
9:35807316 NPR2 A>G	9	35807316	35807316	A	G	NPR2	c.2644-11A>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35807316A>G	(Likely) benign	1 lab	2be0627a67
17:7416576 POLR2A TCGCC>T	17	7416576	7416581	TCGCC	T	POLR2A	c.4995_4998del	NM_000937.5	NP_000928.1:p.(Thr1667LeufsTer313)	NC_000017.10:g.7416578_7416581del	(Likely) benign	1 lab	2be0da2778
2:152342389 NEB T>C	2	152342389	152342389	T	C	NEB	c.25463A>G	NM_001164508.2	NP_001157980.2:p.(Lys8488Arg)	NC_000002.11:g.152342389T>C	(Likely) benign	1 lab	2be1befac6
15:42168334 SPTBN5 C>G	15	42168334	42168334	C	G	SPTBN5	c.4100G>C	NM_016642.4	NP_057726.4:p.(Arg1367Thr)	NC_000015.9:g.42168334C>G	(Likely) benign	1 lab	2be2c437d4
9:133325728 ASS1 C>T	9	133325728	133325728	C	T	ASS1	c.-5-1883C>T	NM_054012.4	NP_446464.1:p.?	NC_000009.11:g.133325728C>T	VUS	1 lab	2be313d7b4
11:119545905 NECTIN1 C>T	11	119545905	119545905	C	T	NECTIN1	c.967G>A	NM_002855.5	NP_002846.3:p.(Gly323Ser)	NC_000011.9:g.119545905C>T	VUS	1 lab	2be3809c9f
11:61511534 DAGLA G>A	11	61511534	61511534	G	A	DAGLA	c.2702G>A	NM_006133.3	NP_006124.1:p.(Arg901His)	NC_000011.9:g.61511534G>A	(Likely) benign	1 lab	2be4405a91
7:44179459 MYL7 C>CCATTGAGCTTCTCCCCAAAGAGCGTGAGGAAGACGGTGAAGTTGATGGGGCCCTTGCCCT	7	44179459	44179461	C	CCATTGAGCTTCTCCCCAAAGAGCGTGAGGAAGACGGTGAAGTTGATGGGGCCCTTGCCCT	MYL7	c.299-1_299insAGGGCAAGGGCCCCATCAACTTCACCGTCTTCCTCACGCTCTTTGGGGAGAAGCTCAATG	NM_021223.3	NP_067046.1:p.?	NC_000007.13:g.44179460_44179461insATTGAGCTTCTCCCCAAAGAGCGTGAGGAAGACGGTGAAGTTGATGGGGCCCTTGCCCTC	(Likely) benign	1 lab	2be5a9e5d3
5:149460354 CSF1R C>T	5	149460354	149460354	C	T	CSF1R	c.283G>A	NM_001288705.3	NP_001275634.1:p.(Ala95Thr)	NC_000005.9:g.149460354C>T	VUS	1 lab	2be76d4906
5:149901064 NDST1 C>T	5	149901064	149901064	C	T	NDST1	c.248C>T	NM_001543.5	NP_001534.1:p.(Pro83Leu)	NC_000005.9:g.149901064C>T	VUS	1 lab	2bec895dd5
9:129453137 LMX1B G>A	9	129453137	129453137	G	A	LMX1B	c.349G>A	NM_001174147.2	NP_001167618.1:p.(Gly117Ser)	NC_000009.11:g.129453137G>A	(Likely) benign	1 lab	2bed59e096
4:1806555 FGFR3 C>T	4	1806555	1806555	C	T	FGFR3	c.1271C>T	NM_000142.5	NP_000133.1:p.(Ser424Phe)	NC_000004.11:g.1806555C>T	VUS	1 lab	2bee0e679f
X:49192812 GAGE13 G>A	X	49192812	49192812	G	A	GAGE13	c.325G>A	NM_001098412.4	NP_001091882.2:p.(Glu109Lys)	NC_000023.10:g.49192812G>A	VUS	1 lab	2bf2a61922
11:6651883 DCHS1 A>C	11	6651883	6651883	A	C	DCHS1	c.4142T>G	NM_003737.4	NP_003728.1:p.(Leu1381Arg)	NC_000011.9:g.6651883A>C	VUS	1 lab	2bf35dbfa9
2:220077177 ABCB6 G>A	2	220077177	220077177	G	A	ABCB6	c.1900C>T	NM_005689.4	NP_005680.1:p.(Arg634Cys)	NC_000002.11:g.220077177G>A	VUS	1 lab	2bf443b35b
19:853254 ELANE C>T	19	853254	853254	C	T	ELANE	c.225-8C>T	NM_001972.4	NP_001963.1:p.?	NC_000019.9:g.853254C>T	(Likely) benign	1 lab	2bf4871a33
22:19164451 SLC25A1 G>A	22	19164451	19164451	G	A	SLC25A1	c.539C>T	NM_005984.5	NP_005975.1:p.(Thr180Met)	NC_000022.10:g.19164451G>A	VUS	1 lab	2bf6fd0aa7
17:36875811 MLLT6 T>C	17	36875811	36875811	T	C	MLLT6	c.1984T>C	NM_005937.4	NP_005928.2:p.(Ser662Pro)	NC_000017.10:g.36875811T>C	VUS	1 lab	2bf84a9ddd
17:80400236 HEXD C>A	17	80400236	80400236	C	A	HEXD	c.1437C>A	NM_001330542.2	NP_001317471.1:p.(Gly479=)	NC_000017.10:g.80400236C>A	VUS	1 lab	2bf889880d
1:179815558 TOR1AIP2 C>A	1	179815558	179815558	C	A	TOR1AIP2	c.1061G>T	NM_001199260.2	NP_001186189.1:p.(Gly354Val)	NC_000001.10:g.179815558C>A	VUS	1 lab	2bf91a707f
19:9452562 ZNF559 ACTTC>A	19	9452562	9452568	ACTTC	A	ZNF559	c.438_441del	NM_032497.3	NP_115886.1:p.(Pro147ThrfsTer57)	NC_000019.9:g.9452565_9452568del	VUS	1 lab	2bf93c1bc6
10:82114242 DYDC1 CAAA>C	10	82114242	82114262	CAAA	C	DYDC1	c.-9-1879_-9-1877del	NM_001269053.2	NP_001255982.1:p.?	NC_000010.10:g.82114260_82114262del	(Likely) benign	1 lab	2bfbdcb1f6
17:4802050 CHRNE G>A	17	4802050	4802050	G	A	CHRNE	c.1463C>T	NM_000080.4	NP_000071.1:p.(Ala488Val)	NC_000017.10:g.4802050G>A	VUS	1 lab	2c26916118
2:220421443 OBSL1 G>A	2	220421443	220421443	G	A	OBSL1	c.4069C>T	NM_015311.3	NP_056126.1:p.(Pro1357Ser)	NC_000002.11:g.220421443G>A	(Likely) benign	1 lab	2bfe26d1cd
1:22834550 ZBTB40 C>G	1	22834550	22834550	C	G	ZBTB40	c.1417C>G	NM_014870.4	NP_055685.3:p.(Leu473Val)	NC_000001.10:g.22834550C>G	VUS	1 lab	2bff7108fc
12:7521563 CD163L1 T>TGA	12	7521563	7521587	T	TGA	CD163L1	c.4040-4_4040-3dup	NM_174941.6	NP_777601.3:p.?	NC_000012.11:g.7521586_7521587dup	(Likely) benign	1 lab	2c008b4899
18:55274774 NARS1 T>C	18	55274774	55274774	T	C	NARS1	c.703A>G	NM_004539.4	NP_004530.1:p.(Met235Val)	NC_000018.9:g.55274774T>C	(Likely) benign	1 lab	2c038ee994
6:32010270 TNXB C>T	6	32010270	32010270	C	T	TNXB	c.12172G>A	NM_001365276.2	NP_001352205.1:p.(Val4058Met)	NC_000006.11:g.32010270C>T	VUS	1 lab	2c04817760
14:36133933 RALGAPA1 A>G	14	36133933	36133933	A	G	RALGAPA1	c.5243T>C	NM_001346249.2	NP_001333178.1:p.(Val1748Ala)	NC_000014.8:g.36133933A>G	VUS	1 lab	2c0588d5c7
1:154573527 ADAR G>C	1	154573527	154573527	G	C	ADAR	c.1591C>G	NM_001111.5	NP_001102.3:p.(His531Asp)	NC_000001.10:g.154573527G>C	(Likely) benign	1 lab	2c05d3b360
10:81053342 ZMIZ1 C>T	10	81053342	81053342	C	T	ZMIZ1	c.1162C>T	NM_020338.4	NP_065071.1:p.(Gln388Ter)	NC_000010.10:g.81053342C>T	(Likely) pathogenic	1 lab	2c0c23ff8f
2:219922299 IHH G>A	2	219922299	219922299	G	A	IHH	c.433C>T	NM_002181.4	NP_002172.2:p.(His145Tyr)	NC_000002.11:g.219922299G>A	(Likely) pathogenic	1 lab	2c0cd130fa
12:49440062 KMT2D G>A	12	49440062	49440062	G	A	KMT2D	c.4564C>T	NM_003482.4	NP_003473.3:p.(Gln1522Ter)	NC_000012.11:g.49440062G>A	(Likely) pathogenic	1 lab	2c0d099148
X:18264780 SCML2 G>A	X	18264780	18264780	G	A	SCML2	c.1739C>T	NM_006089.3	NP_006080.1:p.(Thr580Ile)	NC_000023.10:g.18264780G>A	VUS	1 lab	2c0e4a0ca5
17:1670281 SERPINF1 C>G	17	1670281	1670281	C	G	SERPINF1	c.77C>G	NM_002615.7	NP_002606.3:p.(Pro26Arg)	NC_000017.10:g.1670281C>G	(Likely) benign	1 lab	2c0e52b61d
12:49445183 KMT2D TAGGTGTGGCTCCTCAGGCCGGGGGGAC>T	12	49445183	49445215	TAGGTGTGGCTCCTCAGGCCGGGGGGAC	T	KMT2D	c.2256_2282del	NM_003482.4	NP_003473.3:p.(Arg755_Pro763del)	NC_000012.11:g.49445189_49445215del	(Likely) benign	1 lab	2c0f0e8c97
2:111408160 BUB1 C>T	2	111408160	111408160	C	T	BUB1	c.2166G>A	NM_004336.5	NP_004327.1:p.(Trp722Ter)	NC_000002.11:g.111408160C>T	VUS	1 lab	2c117e9d74
1:7724394 CAMTA1 C>T	1	7724394	7724394	C	T	CAMTA1	c.1787C>T	NM_015215.4	NP_056030.1:p.(Thr596Met)	NC_000001.10:g.7724394C>T	(Likely) benign	1 lab	2c12ae8e2f
17:57125170 TRIM37 GAAA>G	17	57125170	57125173	GAAA	G	TRIM37	c.1538_1540del	NM_015294.6	NP_056109.1:p.(Leu513_Ser514delinsPro)	NC_000017.10:g.57125171_57125173del	VUS	1 lab	2c12db7a8d
2:241679768 KIF1A C>T	2	241679768	241679768	C	T	KIF1A	c.3763G>A	NM_001244008.2	NP_001230937.1:p.(Val1255Met)	NC_000002.11:g.241679768C>T	(Likely) benign	1 lab	2c14062828
X:130678349 OR13H1 C>T	X	130678349	130678349	C	T	OR13H1	c.302C>T	NM_001004486.1	NP_001004486.1:p.(Thr101Met)	NC_000023.10:g.130678349C>T	(Likely) benign	1 lab	2c14ad8688
2:238303827 COL6A3 C>T	2	238303827	238303827	C	T	COL6A3	c.112G>A	NM_004369.4	NP_004360.2:p.(Ala38Thr)	NC_000002.11:g.238303827C>T	VUS	1 lab	2c15a00d6a
4:123128699 BLTP1 A>T	4	123128699	123128699	A	T	BLTP1	c.1658A>T	NM_001384125.1	NP_001371054.1:p.(Tyr553Phe)	NC_000004.11:g.123128699A>T	(Likely) benign	1 lab	2c164e5595
9:13176420 MPDZ G>T	9	13176420	13176420	G	T	MPDZ	c.2650-4C>A	NM_001378778.1	NP_001365707.1:p.?	NC_000009.11:g.13176420G>T	(Likely) benign	1 lab	2c16ce3272
11:17153508 PIK3C2A A>G	11	17153508	17153508	A	G	PIK3C2A	c.2186T>C	NM_002645.4	NP_002636.2:p.(Val729Ala)	NC_000011.9:g.17153508A>G	VUS	1 lab	2c172a31b0
5:149499123 PDGFRB G>A	5	149499123	149499123	G	A	PDGFRB	c.2705C>T	NM_002609.4	NP_002600.1:p.(Thr902Ile)	NC_000005.9:g.149499123G>A	(Likely) benign	1 lab	2c186343c9
2:152427080 NEB C>A	2	152427080	152427080	C	A	NEB	c.17049G>T	NM_001164508.2	NP_001157980.2:p.(Ala5683=)	NC_000002.11:g.152427080C>A	(Likely) benign	1 lab	2c1877d977
3:126751579 PLXNA1 G>A	3	126751579	126751579	G	A	PLXNA1	c.5495G>A	NM_032242.4	NP_115618.3:p.(Ser1832Asn)	NC_000003.11:g.126751579G>A	VUS	1 lab	2c18b908bc
8:121554232 SNTB1 A>G	8	121554232	121554232	A	G	SNTB1	c.1342T>C	NM_021021.4	NP_066301.1:p.(Tyr448His)	NC_000008.10:g.121554232A>G	VUS	1 lab	2c1d98ab58
3:47163013 SETD2 T>A	3	47163013	47163013	T	A	SETD2	c.3113A>T	NM_014159.7	NP_054878.5:p.(Tyr1038Phe)	NC_000003.11:g.47163013T>A	VUS	1 lab	2c1ee2f77e
2:191839658 STAT1 A>C	2	191839658	191839658	A	C	STAT1	c.2136T>G	NM_007315.4	NP_009330.1:p.(Val712=)	NC_000002.11:g.191839658A>C	(Likely) benign	1 lab	2c1f0e469d
16:89346976 ANKRD11 T>G	16	89346976	89346976	T	G	ANKRD11	c.5974A>C	NM_013275.6	NP_037407.4:p.(Lys1992Gln)	NC_000016.9:g.89346976T>G	(Likely) benign	1 lab	2c1f675666
17:42744103 MEIOC G>A	17	42744103	42744103	G	A	MEIOC	c.824G>A	NM_001145080.3	NP_001138552.2:p.(Gly275Asp)	NC_000017.10:g.42744103G>A	VUS	1 lab	2c1ffdd9fa
19:50905355 POLD1 T>G	19	50905355	50905355	T	G	POLD1	c.563T>G	NM_002691.4	NP_002682.2:p.(Leu188Arg)	NC_000019.9:g.50905355T>G	VUS	1 lab	2c203020cd
8:144994198 PLEC G>A	8	144994198	144994198	G	A	PLEC	c.9791C>T	NM_201384.3	NP_958786.1:p.(Ala3264Val)	NC_000008.10:g.144994198G>A	VUS	1 lab	2c2047d890
2:179436497 TTN C>G	2	179436497	179436497	C	G	TTN	c.74362G>C	NM_001267550.2	NP_001254479.2:p.(Val24788Leu)	NC_000002.11:g.179436497C>G	VUS	1 lab	2c2195d6ba
22:50313894 CRELD2 C>T	22	50313894	50313894	C	T	CRELD2	c.414C>T	NM_024324.5	NP_077300.3:p.(Leu138=)	NC_000022.10:g.50313894C>T	VUS	1 lab	2c231e6145
11:64004692 VEGFB C>T	11	64004692	64004692	C	T	VEGFB	c.408C>T	NM_003377.5	NP_003368.1:p.(Asp136=)	NC_000011.9:g.64004692C>T	(Likely) benign	1 lab	2c252e7c56
1:201021733 CACNA1S C>T	1	201021733	201021733	C	T	CACNA1S	c.3905G>A	NM_000069.3	NP_000060.2:p.(Arg1302Gln)	NC_000001.10:g.201021733C>T	VUS	1 lab	2c25b1ece0
10:50681013 ERCC6 G>A	10	50681013	50681013	G	A	ERCC6	c.2771C>T	NM_000124.4	NP_000115.1:p.(Thr924Met)	NC_000010.10:g.50681013G>A	VUS	1 lab	2c25d3474f
22:19165855 SLC25A1 G>A	22	19165855	19165855	G	A	SLC25A1	c.95-102C>T	NM_005984.5	NP_005975.1:p.?	NC_000022.10:g.19165855G>A	(Likely) benign	1 lab	2c265bdd07
16:24741172 TNRC6A G>A	16	24741172	24741172	G	A	TNRC6A	c.5+5G>A	NM_014494.4	NP_055309.2:p.?	NC_000016.9:g.24741172G>A	VUS	1 lab	2c27d9e68d
17:78064015 CCDC40 G>C	17	78064015	78064015	G	C	CCDC40	c.2832+332G>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064015G>C	(Likely) benign	1 lab	2c28713f20
17:7752307 KDM6B C>T	17	7752307	7752307	C	T	KDM6B	c.2701C>T	NM_001348716.2	NP_001335645.1:p.(Pro901Ser)	NC_000017.10:g.7752307C>T	(Likely) benign	1 lab	2c2896e168
7:30058732 FKBP14 A>C	7	30058732	30058732	A	C	FKBP14	c.357T>G	NM_017946.4	NP_060416.1:p.(Ile119Met)	NC_000007.13:g.30058732A>C	VUS	1 lab	2c28ed3402
X:129148425 BCORL1 G>C	X	129148425	129148425	G	C	BCORL1	c.1677G>C	NM_001379451.1	NP_001366380.1:p.(Lys559Asn)	NC_000023.10:g.129148425G>C	VUS	1 lab	2c2a757175
7:96635420 DLX6 A>AGCCGCCGCC	7	96635420	96635449	A	AGCCGCCGCC	DLX6	c.152_160dup	NM_005222.4	NP_005213.3:p.(Pro51_Pro53dup)	NC_000007.13:g.96635441_96635449dup	(Likely) benign	1 lab	1c82eed829
13:39454680 FREM2 A>G	13	39454680	39454680	A	G	FREM2	c.9266A>G	NM_207361.6	NP_997244.4:p.(His3089Arg)	NC_000013.10:g.39454680A>G	(Likely) benign	1 lab	1ce836d1a8
14:38724051 CLEC14A C>T	14	38724051	38724051	C	T	CLEC14A	c.1177G>A	NM_175060.3	NP_778230.1:p.(Asp393Asn)	NC_000014.8:g.38724051C>T	(Likely) benign	1 lab	2c2d9f6198
21:43412736 ZBTB21 C>T	21	43412736	43412736	C	T	ZBTB21	c.1469G>A	NM_001098402.2	NP_001091872.1:p.(Arg490Gln)	NC_000021.8:g.43412736C>T	VUS	1 lab	2c2e74e4e3
1:43803542 MPL T>G	1	43803542	43803542	T	G	MPL	c.23T>G	NM_005373.3	NP_005364.1:p.(Met8Arg)	NC_000001.10:g.43803542T>G	VUS	1 lab	2c2f66a515
14:64066398 WDR89 G>C	14	64066398	64066398	G	C	WDR89	c.263C>G	NM_080666.4	NP_542397.1:p.(Ala88Gly)	NC_000014.8:g.64066398G>C	(Likely) benign	1 lab	2c3067793f
10:27294605 ANKRD26 T>C	10	27294605	27294605	T	C	ANKRD26	c.5047A>G	NM_014915.3	NP_055730.2:p.(Thr1683Ala)	NC_000010.10:g.27294605T>C	(Likely) benign	1 lab	2c3080bd34
5:147504408 SPINK5 AT>A	5	147504408	147504410	AT	A	SPINK5	c.2739+10del	NM_006846.4	NP_006837.2:p.?	NC_000005.9:g.147504410del	(Likely) benign	1 lab	2c31950761
1:197091055 ASPM T>C	1	197091055	197091055	T	C	ASPM	c.3860A>G	NM_018136.5	NP_060606.3:p.(Lys1287Arg)	NC_000001.10:g.197091055T>C	VUS	1 lab	2c3226e0a5
19:3831769 ZFR2 A>T	19	3831769	3831769	A	T	ZFR2	c.487T>A	NM_015174.2	NP_055989.1:p.(Ser163Thr)	NC_000019.9:g.3831769A>T	(Likely) benign	1 lab	2c33542972
8:19362771 CSGALNACT1 T>C	8	19362771	19362771	T	C	CSGALNACT1	c.575A>G	NM_001354483.2	NP_001341412.1:p.(Asn192Ser)	NC_000008.10:g.19362771T>C	VUS	1 lab	2c33af8b21
20:60578853 TAF4 G>A	20	60578853	60578853	G	A	TAF4	c.2305C>T	NM_003185.4	NP_003176.2:p.(Arg769Trp)	NC_000020.10:g.60578853G>A	VUS	1 lab	2c344b0ad3
7:105636761 CDHR3 A>G	7	105636761	105636761	A	G	CDHR3	c.674A>G	NM_152750.5	NP_689963.2:p.(Asn225Ser)	NC_000007.13:g.105636761A>G	(Likely) benign	1 lab	2c34533e2a
4:367290 ZNF141 A>G	4	367290	367290	A	G	ZNF141	c.1064A>G	NM_003441.4	NP_003432.1:p.(Asn355Ser)	NC_000004.11:g.367290A>G	(Likely) benign	1 lab	2c349ed825
7:33312676 BBS9 C>G	7	33312676	33312676	C	G	BBS9	c.755C>G	NM_198428.3	NP_940820.1:p.(Ser252Cys)	NC_000007.13:g.33312676C>G	VUS	1 lab	2c34dbb91b
18:44601676 KATNAL2 C>T	18	44601676	44601676	C	T	KATNAL2	c.1037C>T	NM_001387690.1	NP_001374619.1:p.(Ala346Val)	NC_000018.9:g.44601676C>T	VUS	1 lab	2c351d2fec
5:127692967 FBN2 C>A	5	127692967	127692967	C	A	FBN2	c.2674+1G>T	NM_001999.4	NP_001990.2:p.?	NC_000005.9:g.127692967C>A	VUS	1 lab	2c37e6bc80
3:45972345 FYCO1 G>A	3	45972345	45972345	G	A	FYCO1	c.4251+218C>T	NM_024513.4	NP_078789.2:p.?	NC_000003.11:g.45972345G>A	VUS	1 lab	2c37f1f3da
1:36938160 CSF3R C>G	1	36938160	36938160	C	G	CSF3R	c.801G>C	NM_000760.4	NP_000751.1:p.(Glu267Asp)	NC_000001.10:g.36938160C>G	(Likely) benign	1 lab	2c38fa3c0e
9:109689704 ZNF462 G>C	9	109689704	109689704	G	C	ZNF462	c.3511G>C	NM_021224.6	NP_067047.4:p.(Ala1171Pro)	NC_000009.11:g.109689704G>C	(Likely) benign	1 lab	2c397c5c6a
2:214204925 SPAG16 G>A	2	214204925	214204925	G	A	SPAG16	c.575G>A	NM_024532.5	NP_078808.3:p.(Arg192His)	NC_000002.11:g.214204925G>A	(Likely) benign	1 lab	2c3a08bac5
1:230338984 GALNT2 G>C	1	230338984	230338984	G	C	GALNT2	c.322G>C	NM_004481.5	NP_004472.1:p.(Glu108Gln)	NC_000001.10:g.230338984G>C	VUS	1 lab	2c3af4b187
17:17697667 RAI1 G>C	17	17697667	17697667	G	C	RAI1	c.1405G>C	NM_030665.4	NP_109590.3:p.(Val469Leu)	NC_000017.10:g.17697667G>C	VUS	1 lab	2c3bc766ee
9:114468959 SHOC1 A>G	9	114468959	114468959	A	G	SHOC1	c.2626T>C	NM_001378211.1	NP_001365140.1:p.(Phe876Leu)	NC_000009.11:g.114468959A>G	VUS	1 lab	1c82f82ae3
10:73468899 CDH23 G>A	10	73468899	73468899	G	A	CDH23	c.3151G>A	NM_022124.6	NP_071407.4:p.(Val1051Ile)	NC_000010.10:g.73468899G>A	VUS	1 lab	2c3ce17e04
2:233322270 ALPI C>T	2	233322270	233322270	C	T	ALPI	c.649-5C>T	NM_001631.5	NP_001622.2:p.?	NC_000002.11:g.233322270C>T	(Likely) benign	1 lab	1ce8cc4ea1
8:97157359 GDF6 C>A	8	97157359	97157359	C	A	GDF6	c.800G>T	NM_001001557.4	NP_001001557.1:p.(Arg267Leu)	NC_000008.10:g.97157359C>A	VUS	1 lab	2c3f460c37
2:71376471 MPHOSPH10 G>A	2	71376471	71376471	G	A	MPHOSPH10	c.1784G>A	NM_005791.3	NP_005782.1:p.(Arg595Gln)	NC_000002.11:g.71376471G>A	(Likely) benign	1 lab	2c3f4be5c4
1:22201152 HSPG2 T>C	1	22201152	22201152	T	C	HSPG2	c.3485A>G	NM_005529.7	NP_005520.4:p.(His1162Arg)	NC_000001.10:g.22201152T>C	VUS	1 lab	2c3f6b47bc
11:64521446 PYGM G>C	11	64521446	64521446	G	C	PYGM	c.1144C>G	NM_005609.4	NP_005600.1:p.(Pro382Ala)	NC_000011.9:g.64521446G>C	VUS	1 lab	2c4127d9e6
7:151896409 KMT2C G>A	7	151896409	151896409	G	A	KMT2C	c.4228C>T	NM_170606.3	NP_733751.2:p.(Pro1410Ser)	NC_000007.13:g.151896409G>A	VUS	1 lab	2c42885c13
11:6652623 DCHS1 G>T	11	6652623	6652623	G	T	DCHS1	c.3691C>A	NM_003737.4	NP_003728.1:p.(Pro1231Thr)	NC_000011.9:g.6652623G>T	(Likely) benign	1 lab	2c44172a0c
8:121292281 COL14A1 G>A	8	121292281	121292281	G	A	COL14A1	c.3589G>A	NM_021110.4	NP_066933.1:p.(Ala1197Thr)	NC_000008.10:g.121292281G>A	VUS	1 lab	2c44d5c3c4
X:103495061 ESX1 G>C	X	103495061	103495061	G	C	ESX1	c.1069C>G	NM_153448.4	NP_703149.1:p.(Leu357Val)	NC_000023.10:g.103495061G>C	VUS	1 lab	2c45ba40a8
13:20763058 GJB2 C>G	13	20763058	20763058	C	G	GJB2	c.663G>C	NM_004004.6	NP_003995.2:p.(Lys221Asn)	NC_000013.10:g.20763058C>G	VUS	1 lab	2c46356a24
2:60779945 BCL11A C>A	2	60779945	60779945	C	A	BCL11A	c.55+406G>T	NM_022893.4	NP_075044.2:p.?	NC_000002.11:g.60779945C>A	(Likely) benign	1 lab	2c46a20361
2:48026735 MSH6 AT>A	2	48026735	48026736	AT	A	MSH6	c.1614del	NM_000179.3	NP_000170.1:p.(Leu539PhefsTer32)	NC_000002.11:g.48026736del	(Likely) pathogenic	1 lab	2c47395e91
2:179666956 TTN G>A	2	179666956	179666956	G	A	TTN	c.204C>T	NM_001267550.2	NP_001254479.2:p.(Pro68=)	NC_000002.11:g.179666956G>A	VUS	1 lab	2c4a1a81a1
5:13850770 DNAH5 G>A	5	13850770	13850770	G	A	DNAH5	c.5105C>T	NM_001369.3	NP_001360.1:p.(Ser1702Phe)	NC_000005.9:g.13850770G>A	VUS	1 lab	2c4a7b10fb
3:25502679 RARB T>C	3	25502679	25502679	T	C	RARB	c.158-5T>C	NM_000965.5	NP_000956.2:p.?	NC_000003.11:g.25502679T>C	(Likely) benign	1 lab	2c4ad5761c
11:65309175 LTBP3 G>A	11	65309175	65309175	G	A	LTBP3	c.2621C>T	NM_001130144.3	NP_001123616.1:p.(Pro874Leu)	NC_000011.9:g.65309175G>A	VUS	1 lab	2c4e2ff590
17:39976583 FKBP10 C>A	17	39976583	39976583	C	A	FKBP10	c.1126C>A	NM_021939.4	NP_068758.3:p.(Pro376Thr)	NC_000017.10:g.39976583C>A	VUS	1 lab	2c4e77ac9e
6:150210539 RAET1E G>T	6	150210539	150210539	G	T	RAET1E	c.567C>A	NM_001394057.1	NP_001380986.1:p.(Cys189Ter)	NC_000006.11:g.150210539G>T	VUS	1 lab	2c4eadc35d
16:90102953 DRC4 G>T	16	90102953	90102953	G	T	DRC4	c.715G>T	NM_001481.3	NP_001472.1:p.(Asp239Tyr)	NC_000016.9:g.90102953G>T	VUS	1 lab	2c4eddc007
5:176675289 NSD1 C>T	5	176675289	176675289	C	T	NSD1	c.4605C>T	NM_022455.5	NP_071900.2:p.(Arg1535=)	NC_000005.9:g.176675289C>T	(Likely) benign	1 lab	2c4fc3c149
19:12791893 DHPS G>A	19	12791893	12791893	G	A	DHPS	c.207+481C>T	NM_001930.4	NP_001921.1:p.?	NC_000019.9:g.12791893G>A	(Likely) benign	1 lab	2c502529f0
17:2186975 SMG6 G>A	17	2186975	2186975	G	A	SMG6	c.2392C>T	NM_017575.5	NP_060045.4:p.(Pro798Ser)	NC_000017.10:g.2186975G>A	VUS	1 lab	2c50591cae
6:117241522 RFX6 C>T	6	117241522	117241522	C	T	RFX6	c.1232C>T	NM_173560.4	NP_775831.2:p.(Ser411Phe)	NC_000006.11:g.117241522C>T	VUS	1 lab	2c50948039
3:186502386 EIF4A2 G>T	3	186502386	186502386	G	T	EIF4A2	c.109G>T	NM_001967.4	NP_001958.2:p.(Asp37Tyr)	NC_000003.11:g.186502386G>T	VUS	1 lab	2c531fc426
5:37226614 CPLANE1 C>T	5	37226614	37226614	C	T	CPLANE1	c.2083G>A	NM_001384732.1	NP_001371661.1:p.(Val695Ile)	NC_000005.9:g.37226614C>T	VUS	1 lab	2c53d3021d
17:7406736 POLR2A C>G	17	7406736	7406736	C	G	POLR2A	c.2961C>G	NM_000937.5	NP_000928.1:p.(Ile987Met)	NC_000017.10:g.7406736C>G	VUS	1 lab	2c544cd322
11:608871 PHRF1 C>T	11	608871	608871	C	T	PHRF1	c.3415C>T	NM_001286581.2	NP_001273510.1:p.(Arg1139Trp)	NC_000011.9:g.608871C>T	(Likely) benign	1 lab	2c5508e340
10:72489872 ADAMTS14 C>T	10	72489872	72489872	C	T	ADAMTS14	c.969C>T	NM_080722.4	NP_542453.2:p.(Ile323=)	NC_000010.10:g.72489872C>T	(Likely) benign	1 lab	2c55c2b58e
5:171765981 SH3PXD2B G>C	5	171765981	171765981	G	C	SH3PXD2B	c.2128C>G	NM_001017995.3	NP_001017995.1:p.(Gln710Glu)	NC_000005.9:g.171765981G>C	(Likely) benign	1 lab	2c5661a58b
5:149495510 PDGFRB C>T	5	149495510	149495510	C	T	PDGFRB	c.3138-1G>A	NM_002609.4	NP_002600.1:p.?	NC_000005.9:g.149495510C>T	VUS	1 lab	2c568db17b
19:42867284 MEGF8 C>T	19	42867284	42867284	C	T	MEGF8	c.6143C>T	NM_001271938.2	NP_001258867.1:p.(Pro2048Leu)	NC_000019.9:g.42867284C>T	VUS	1 lab	2c57bceaff
15:56535332 RFX7 T>C	15	56535332	56535332	T	C	RFX7	c.152A>G	NM_022841.7	NP_073752.6:p.(Asn51Ser)	NC_000015.9:g.56535332T>C	VUS	1 lab	2c59723d4f
19:54744784 LILRB3 T>TGGC	19	54744784	54744787	T	TGGC	LILRB3	c.875_877dup	NM_006864.4	NP_006855.3:p.(Gly292_Gln293insArg)	NC_000019.9:g.54744785_54744787dup	(Likely) benign	1 lab	2c5a313530
2:238274569 COL6A3 G>T	2	238274569	238274569	G	T	COL6A3	c.5610C>A	NM_004369.4	NP_004360.2:p.(Ser1870Arg)	NC_000002.11:g.238274569G>T	(Likely) benign	1 lab	2c5ab218f7
3:58155449 FLNB C>T	3	58155449	58155449	C	T	FLNB	c.7550C>T	NM_001457.4	NP_001448.2:p.(Ser2517Phe)	NC_000003.11:g.58155449C>T	VUS	1 lab	2c6092043f
12:101017586 GAS2L3 G>A	12	101017586	101017586	G	A	GAS2L3	c.1003G>A	NM_174942.3	NP_777602.1:p.(Val335Met)	NC_000012.11:g.101017586G>A	(Likely) benign	1 lab	2c61bddc62
X:48776074 PIM2 G>C	X	48776074	48776074	G	C	PIM2	c.38C>G	NM_006875.4	NP_006866.2:p.(Pro13Arg)	NC_000023.10:g.48776074G>C	VUS	1 lab	2c63459d40
6:33136776 COL11A2 C>T	6	33136776	33136776	C	T	COL11A2	c.3808G>A	NM_080680.3	NP_542411.2:p.(Gly1270Ser)	NC_000006.11:g.33136776C>T	VUS	1 lab	2c64862ede
9:140713042 EHMT1 T>G	9	140713042	140713042	T	G	EHMT1	c.3540+452T>G	NM_024757.5	NP_079033.4:p.?	NC_000009.11:g.140713042T>G	(Likely) benign	1 lab	2c666d7dbf
17:18225954 SMCR8 G>C	17	18225954	18225954	G	C	SMCR8	c.2384G>C	NM_144775.3	NP_658988.2:p.(Gly795Ala)	NC_000017.10:g.18225954G>C	(Likely) benign	1 lab	2c670cf311
1:116577801 SLC22A15 A>G	1	116577801	116577801	A	G	SLC22A15	c.945-7A>G	NM_018420.3	NP_060890.2:p.?	NC_000001.10:g.116577801A>G	VUS	1 lab	2c67bc00fb
22:26224835 MYO18B C>T	22	26224835	26224835	C	T	MYO18B	c.2879C>T	NM_032608.7	NP_115997.5:p.(Ala960Val)	NC_000022.10:g.26224835C>T	(Likely) benign	1 lab	2c69138a64
3:33060057 GLB1 G>A	3	33060057	33060057	G	A	GLB1	c.1234-4C>T	NM_000404.4	NP_000395.3:p.?	NC_000003.11:g.33060057G>A	VUS	1 lab	2c69ecc28c
X:36254066 CFAP47 G>A	X	36254066	36254066	G	A	CFAP47	c.7030G>A	NM_001304548.2	NP_001291477.1:p.(Asp2344Asn)	NC_000023.10:g.36254066G>A	(Likely) benign	1 lab	2c6a2403ad
8:41792288 KAT6A C>CT	8	41792288	41792293	C	CT	KAT6A	c.3449dup	NM_006766.5	NP_006757.2:p.(Trp1152MetfsTer23)	NC_000008.10:g.41792293dup	(Likely) pathogenic	1 lab	1c8a6b3fcb
20:60885773 LAMA5 T>G	20	60885773	60885773	T	G	LAMA5	c.10394A>C	NM_005560.6	NP_005551.3:p.(His3465Pro)	NC_000020.10:g.60885773T>G	VUS	1 lab	2c6b9d2749
22:26307025 MYO18B G>A	22	26307025	26307025	G	A	MYO18B	c.5364+8G>A	NM_032608.7	NP_115997.5:p.?	NC_000022.10:g.26307025G>A	(Likely) benign	1 lab	2c6ce617bc
3:49064247 IMPDH2 C>T	3	49064247	49064247	C	T	IMPDH2	c.692G>A	NM_000884.3	NP_000875.2:p.(Arg231Gln)	NC_000003.11:g.49064247C>T	VUS	1 lab	2c6d096092
14:68244366 ZFYVE26 G>T	14	68244366	68244366	G	T	ZFYVE26	c.4884C>A	NM_015346.4	NP_056161.2:p.(His1628Gln)	NC_000014.8:g.68244366G>T	VUS	1 lab	2c6e8085d8
14:24909628 KHNYN GC>G	14	24909628	24909634	GC	G	KHNYN	c.*3143del	NM_015299.3	NP_056114.1:p.?	NC_000014.8:g.24909634del	VUS	1 lab	2c6f459e04
X:132973608 GPC3 A>G	X	132973608	132973608	A	G	GPC3	c.338-85405T>C	NM_004484.4	NP_004475.1:p.?	NC_000023.10:g.132973608A>G	(Likely) benign	1 lab	2c72115cc4
15:65917349 SLC24A1 G>C	15	65917349	65917349	G	C	SLC24A1	c.931G>C	NM_004727.3	NP_004718.1:p.(Val311Leu)	NC_000015.9:g.65917349G>C	(Likely) benign	1 lab	2c73015309
17:44109474 KANSL1 G>A	17	44109474	44109474	G	A	KANSL1	c.3029C>T	NM_001193466.2	NP_001180395.1:p.(Pro1010Leu)	NC_000017.10:g.44109474G>A	(Likely) benign	1 lab	1c8ce95aaa
17:78355428 RNF213 T>G	17	78355428	78355428	T	G	RNF213	c.13879T>G	NM_001256071.3	NP_001243000.2:p.(Leu4627Val)	NC_000017.10:g.78355428T>G	VUS	1 lab	2c73df2a29
9:33796746 PRSS3 G>T	9	33796746	33796746	G	T	PRSS3	c.146G>T	NM_002771.4	NP_002762.3:p.(Gly49Val)	NC_000009.11:g.33796746G>T	(Likely) benign	1 lab	2c7464d3ec
9:32986033 APTX AAAAAAAACAAAAAAAAAAAC>A	9	32986033	32986060	AAAAAAAACAAAAAAAAAAAC	A	APTX	c.484-25_484-6del	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32986041_32986060del	VUS	1 lab	2c75a29e32
18:55335710 ATP8B1 T>A	18	55335710	55335710	T	A	ATP8B1	c.2160A>T	NM_001374385.1	NP_001361314.1:p.(Lys720Asn)	NC_000018.9:g.55335710T>A	VUS	1 lab	2c7a441334
2:241537507 CAPN10 G>A	2	241537507	241537507	G	A	CAPN10	c.1943+3G>A	NM_023083.4	NP_075571.2:p.?	NC_000002.11:g.241537507G>A	(Likely) benign	1 lab	2c7aa2f589
22:40059715 CACNA1I CTG>C	22	40059715	40059717	CTG	C	CACNA1I	c.3474-7_3474-6del	NM_021096.4	NP_066919.2:p.?	NC_000022.10:g.40059716_40059717del	(Likely) benign	1 lab	2c7bdef147
8:133673853 DNAAF11 G>A	8	133673853	133673853	G	A	DNAAF11	c.31C>T	NM_012472.6	NP_036604.2:p.(Arg11Trp)	NC_000008.10:g.133673853G>A	(Likely) benign	1 lab	2c7c6a1b4a
2:202672283 CDK15 C>G	2	202672283	202672283	C	G	CDK15	c.190C>G	NM_001366386.2	NP_001353315.1:p.(Arg64Gly)	NC_000002.11:g.202672283C>G	(Likely) benign	1 lab	2c7d51d3b0
7:45956885 IGFBP3 T>A	7	45956885	45956885	T	A	IGFBP3	c.557A>T	NM_000598.5	NP_000589.2:p.(Tyr186Phe)	NC_000007.13:g.45956885T>A	VUS	1 lab	2c7d6c3046
X:117727265 DOCK11 G>A	X	117727265	117727265	G	A	DOCK11	c.2228G>A	NM_144658.4	NP_653259.3:p.(Gly743Glu)	NC_000023.10:g.117727265G>A	(Likely) benign	1 lab	2c7dfb8a5f
7:87754974 ADAM22 G>A	7	87754974	87754974	G	A	ADAM22	c.678G>A	NM_001324418.2	NP_001311347.1:p.(Gln226=)	NC_000007.13:g.87754974G>A	(Likely) benign	1 lab	2c7e3bddd8
20:50290756 ATP9A C>A	20	50290756	50290756	C	A	ATP9A	c.973G>T	NM_006045.3	NP_006036.1:p.(Ala325Ser)	NC_000020.10:g.50290756C>A	VUS	1 lab	2c807e734b
6:15511614 JARID2 G>A	6	15511614	15511614	G	A	JARID2	c.2934G>A	NM_004973.4	NP_004964.2:p.(Met978Ile)	NC_000006.11:g.15511614G>A	VUS	1 lab	2c80c6b676
2:169874408 ABCB11 G>A	2	169874408	169874408	G	A	ABCB11	c.76+152C>T	NM_003742.4	NP_003733.2:p.?	NC_000002.11:g.169874408G>A	VUS	1 lab	1cecae52d7
4:1978201 NSD2 G>A	4	1978201	1978201	G	A	NSD2	c.3622-1G>A	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1978201G>A	(Likely) pathogenic	1 lab	2c825983fa
12:7362721 PEX5 C>T	12	7362721	7362721	C	T	PEX5	c.1822C>T	NM_001351132.2	NP_001338061.1:p.(Arg608Cys)	NC_000012.11:g.7362721C>T	VUS	1 lab	2c8284461a
16:1570310 IFT140 T>G	16	1570310	1570310	T	G	IFT140	c.3695A>C	NM_014714.4	NP_055529.2:p.(Glu1232Ala)	NC_000016.9:g.1570310T>G	VUS	1 lab	2c82a0692b
7:34101635 BMPER G>A	7	34101635	34101635	G	A	BMPER	c.1054G>A	NM_001365308.1	NP_001352237.1:p.(Gly352Arg)	NC_000007.13:g.34101635G>A	VUS	1 lab	2c82c046b8
9:69423668 MISSING A>C	9	69423668	69423668	A	C	MISSING				NC_000009.11:g.69423668A>C	(Likely) benign	1 lab	2c8571003c
3:46062611 XCR1 A>C	3	46062611	46062611	A	C	XCR1	c.829T>G	NM_001024644.2	NP_001019815.1:p.(Phe277Val)	NC_000003.11:g.46062611A>C	VUS	1 lab	2c85a8d64b
3:47883144 DHX30 A>G	3	47883144	47883144	A	G	DHX30	c.706A>G	NM_138615.3	NP_619520.1:p.(Ile236Val)	NC_000003.11:g.47883144A>G	VUS	1 lab	2c881fd9b2
16:14029530 ERCC4 T>C	16	14029530	14029530	T	C	ERCC4	c.1741T>C	NM_005236.3	NP_005227.1:p.(Tyr581His)	NC_000016.9:g.14029530T>C	VUS	1 lab	2c89c98c14
10:75672724 PLAU G>A	10	75672724	75672724	G	A	PLAU	c.236G>A	NM_002658.6	NP_002649.2:p.(Arg79Gln)	NC_000010.10:g.75672724G>A	(Likely) benign	1 lab	2c8a3cf6a4
19:45206751 CEACAM16 C>T	19	45206751	45206751	C	T	CEACAM16	c.170C>T	NM_001039213.4	NP_001034302.2:p.(Pro57Leu)	NC_000019.9:g.45206751C>T	VUS	1 lab	2c8a6ac093
2:233396182 CHRND C>T	2	233396182	233396182	C	T	CHRND	c.932+9C>T	NM_000751.3	NP_000742.1:p.?	NC_000002.11:g.233396182C>T	(Likely) benign	1 lab	2c8aaa1f10
X:123654641 TENM1 TAA>T	X	123654641	123654658	TAA	T	TENM1	c.3034-9_3034-8del	NM_001163278.2	NP_001156750.1:p.?	NC_000023.10:g.123654657_123654658del	VUS	1 lab	2c8ad4ff78
17:61498336 TANC2 G>C	17	61498336	61498336	G	C	TANC2	c.4993G>C	NM_025185.4	NP_079461.2:p.(Gly1665Arg)	NC_000017.10:g.61498336G>C	VUS	1 lab	1c8f602433
2:198353881 HSPD1 C>T	2	198353881	198353881	C	T	HSPD1	c.1060G>A	NM_002156.5	NP_002147.2:p.(Asp354Asn)	NC_000002.11:g.198353881C>T	VUS	1 lab	2c8d75f49f
16:53514679 RBL2 A>G	16	53514679	53514679	A	G	RBL2	c.3082A>G	NM_005611.4	NP_005602.3:p.(Asn1028Asp)	NC_000016.9:g.53514679A>G	VUS	1 lab	2c8e3e7a66
16:2820675 SRRM2 A>AG	16	2820675	2820678	A	AG	SRRM2	c.8209dup	NM_016333.4	NP_057417.3:p.(Glu2737GlyfsTer4)	NC_000016.9:g.2820678dup	(Likely) pathogenic	1 lab	2c8e4cb3c3
16:2163198 PKD1 A>G	16	2163198	2163198	A	G	PKD1	c.2949T>C	NM_001009944.3	NP_001009944.3:p.(Asn983=)	NC_000016.9:g.2163198A>G	(Likely) benign	1 lab	2c8eedbfb8
17:34431374 CCL4 A>G	17	34431374	34431374	A	G	CCL4	c.76A>G	NM_002984.4	NP_002975.1:p.(Met26Val)	NC_000017.10:g.34431374A>G	VUS	1 lab	2c8f2e79d1
7:40172688 MPLKIP G>C	7	40172688	40172688	G	C	MPLKIP	c.510C>G	NM_138701.4	NP_619646.1:p.(Phe170Leu)	NC_000007.13:g.40172688G>C	VUS	1 lab	2c9087acc7
4:76581046 G3BP2 C>T	4	76581046	76581046	C	T	G3BP2	c.451G>A	NM_203505.3	NP_987101.1:p.(Asp151Asn)	NC_000004.11:g.76581046C>T	VUS	1 lab	2c90a7bab2
10:49931518 WDFY4 T>G	10	49931518	49931518	T	G	WDFY4	c.497T>G	NM_001394531.1	NP_001381460.1:p.(Leu166Arg)	NC_000010.10:g.49931518T>G	VUS	1 lab	2c923e5c48
2:179439339 TTN C>G	2	179439339	179439339	C	G	TTN	c.71520G>C	NM_001267550.2	NP_001254479.2:p.(Lys23840Asn)	NC_000002.11:g.179439339C>G	VUS	1 lab	2c927fbb81
11:46905464 LRP4 T>G	11	46905464	46905464	T	G	LRP4	c.2570A>C	NM_002334.4	NP_002325.2:p.(Asn857Thr)	NC_000011.9:g.46905464T>G	VUS	1 lab	2c93a6c907
5:176814784 SLC34A1 T>G	5	176814784	176814784	T	G	SLC34A1	c.554T>G	NM_003052.5	NP_003043.3:p.(Ile185Ser)	NC_000005.9:g.176814784T>G	VUS	1 lab	2c943bff24
4:126336204 FAT4 C>T	4	126336204	126336204	C	T	FAT4	c.6086C>T	NM_001291303.3	NP_001278232.1:p.(Ser2029Phe)	NC_000004.11:g.126336204C>T	VUS	1 lab	2c945171ac
2:109383207 RANBP2 T>G	2	109383207	109383207	T	G	RANBP2	c.6212T>G	NM_006267.5	NP_006258.3:p.(Leu2071Arg)	NC_000002.11:g.109383207T>G	VUS	1 lab	2c94d23100
1:180235684 LHX4 G>A	1	180235684	180235684	G	A	LHX4	c.406G>A	NM_033343.4	NP_203129.1:p.(Gly136Arg)	NC_000001.10:g.180235684G>A	VUS	1 lab	2c98df6bce
16:77331312 ADAMTS18 C>T	16	77331312	77331312	C	T	ADAMTS18	c.2675G>A	NM_199355.4	NP_955387.1:p.(Gly892Asp)	NC_000016.9:g.77331312C>T	VUS	1 lab	2c9b843a33
7:2587082 BRAT1 G>C	7	2587082	2587082	G	C	BRAT1	c.158C>G	NM_152743.4	NP_689956.2:p.(Pro53Arg)	NC_000007.13:g.2587082G>C	VUS	1 lab	2c9d6c8248
5:102364665 PAM C>T	5	102364665	102364665	C	T	PAM	c.2818C>T	NM_001177306.2	NP_001170777.1:p.(Arg940Trp)	NC_000005.9:g.102364665C>T	VUS	1 lab	2c9da05985
1:112303720 DDX20 C>G	1	112303720	112303720	C	G	DDX20	c.935C>G	NM_007204.5	NP_009135.4:p.(Ala312Gly)	NC_000001.10:g.112303720C>G	VUS	1 lab	2c9e0ee482
1:39895547 MACF1 G>A	1	39895547	39895547	G	A	MACF1	c.16937G>A	NM_001394062.1	NP_001380991.1:p.(Arg5646His)	NC_000001.10:g.39895547G>A	(Likely) benign	1 lab	2c9e64f42e
16:29814262 KIF22 C>T	16	29814262	29814262	C	T	KIF22	c.1449+4C>T	NM_007317.3	NP_015556.1:p.?	NC_000016.9:g.29814262C>T	(Likely) benign	1 lab	2ca01445eb
16:30747916 SRCAP G>GT	16	30747916	30747917	G	GT	SRCAP	c.6980dup	NM_006662.3	NP_006653.2:p.(Ser2328GlufsTer42)	NC_000016.9:g.30747917dup	VUS	1 lab	2ca071444a
12:49444178 KMT2D A>T	12	49444178	49444178	A	T	KMT2D	c.3193T>A	NM_003482.4	NP_003473.3:p.(Ser1065Thr)	NC_000012.11:g.49444178A>T	(Likely) benign	1 lab	2ca0a174fc
1:22919900 EPHA8 C>T	1	22919900	22919900	C	T	EPHA8	c.1397C>T	NM_020526.5	NP_065387.1:p.(Pro466Leu)	NC_000001.10:g.22919900C>T	VUS	1 lab	2ca115714f
7:1097814 GPR146 C>A	7	1097814	1097814	C	A	GPR146	c.663C>A	NM_001303473.2	NP_001290402.1:p.(Asp221Glu)	NC_000007.13:g.1097814C>A	VUS	1 lab	2ca2cb1883
5:140389307 PCDHAC1 G>T	5	140389307	140389307	G	T	PCDHAC1	c.2677G>T	NM_018898.5	NP_061721.2:p.(Gly893Cys)	NC_000005.9:g.140389307G>T	VUS	1 lab	2ca2f7ea17
16:30078307 ALDOA G>C	16	30078307	30078307	G	C	ALDOA	c.89G>C	NM_001243177.4	NP_001230106.1:p.(Gly30Ala)	NC_000016.9:g.30078307G>C	VUS	1 lab	2ca39f339f
13:32906897 BRCA2 C>A	13	32906897	32906897	C	A	BRCA2	c.1282C>A	NM_000059.4	NP_000050.3:p.(Leu428Ile)	NC_000013.10:g.32906897C>A	VUS	1 lab	2ca3dc47e3
12:43826128 ADAMTS20 C>T	12	43826128	43826128	C	T	ADAMTS20	c.3075G>A	NM_025003.5	NP_079279.3:p.(Trp1025Ter)	NC_000012.11:g.43826128C>T	(Likely) pathogenic	1 lab	2ca654c9d4
10:89621763 KLLN ACT>A	10	89621763	89621770	ACT	A	KLLN	c.480_481del	NM_001126049.2	NP_001119521.1:p.(Arg160SerfsTer13)	NC_000010.10:g.89621769_89621770del	VUS	1 lab	2ca8cf2371
15:90210349 PLIN1 G>A	15	90210349	90210349	G	A	PLIN1	c.1027C>T	NM_002666.5	NP_002657.3:p.(Leu343Phe)	NC_000015.9:g.90210349G>A	(Likely) benign	1 lab	2ca8edd8f2
3:128598580 ACAD9 G>A	3	128598580	128598580	G	A	ACAD9	c.46G>A	NM_014049.5	NP_054768.2:p.(Ala16Thr)	NC_000003.11:g.128598580G>A	(Likely) benign	1 lab	2ca949d58f
19:40006174 SELENOV C>G	19	40006174	40006174	C	G	SELENOV	c.322C>G	NM_182704.2	NP_874363.1:p.(Pro108Ala)	NC_000019.9:g.40006174C>G	(Likely) benign	1 lab	2caa525fcd
9:135944128 CEL A>G	9	135944128	135944128	A	G	CEL	c.965A>G	NM_001807.6	NP_001798.3:p.(Asn322Ser)	NC_000009.11:g.135944128A>G	(Likely) benign	1 lab	2caa8cb931
16:67197373 FBXL8 G>C	16	67197373	67197373	G	C	FBXL8	c.775G>C	NM_018378.3	NP_060848.2:p.(Glu259Gln)	NC_000016.9:g.67197373G>C	VUS	1 lab	2cacb2f03f
15:65447357 CLPX G>T	15	65447357	65447357	G	T	CLPX	c.1374C>A	NM_006660.5	NP_006651.2:p.(Asp458Glu)	NC_000015.9:g.65447357G>T	VUS	1 lab	2cad3923a8
10:103433327 FBXW4 G>A	10	103433327	103433327	G	A	FBXW4	c.925C>T	NM_022039.4	NP_071322.2:p.(Arg309Trp)	NC_000010.10:g.103433327G>A	(Likely) benign	1 lab	2cad478d65
18:58039180 MC4R C>T	18	58039180	58039180	C	T	MC4R	c.403G>A	NM_005912.3	NP_005903.2:p.(Ala135Thr)	NC_000018.9:g.58039180C>T	(Likely) pathogenic	1 lab	2cad5e29c2
17:48432292 XYLT2 G>A	17	48432292	48432292	G	A	XYLT2	c.882G>A	NM_022167.4	NP_071450.2:p.(Met294Ile)	NC_000017.10:g.48432292G>A	(Likely) benign	1 lab	2cadcbe6be
22:16279305 POTEH T>C	22	16279305	16279305	T	C	POTEH	c.922-4A>G	NM_001136213.1	NP_001129685.1:p.?	NC_000022.10:g.16279305T>C	(Likely) benign	1 lab	2cafb9d4d8
16:774312 CCDC78 C>T	16	774312	774312	C	T	CCDC78	c.953+10G>A	NM_001378030.1	NP_001364959.1:p.?	NC_000016.9:g.774312C>T	(Likely) benign	1 lab	2cc1ff1a7f
5:56177848 MAP3K1 TCAACAA>T	5	56177848	56177874	TCAACAA	T	MAP3K1	c.2842_2847del	NM_005921.2	NP_005912.1:p.(Thr948_Thr949del)	NC_000005.9:g.56177869_56177874del	VUS	1 lab	2cb3be65f5
17:44110565 KANSL1 T>C	17	44110565	44110565	T	C	KANSL1	c.2725-7A>G	NM_015443.4	NP_056258.1:p.?	NC_000017.10:g.44110565T>C	(Likely) benign	1 lab	2cb56ec7ab
2:74460656 SLC4A5 G>A	2	74460656	74460656	G	A	SLC4A5	c.2468C>T	NM_133478.3	NP_597812.1:p.(Pro823Leu)	NC_000002.11:g.74460656G>A	(Likely) benign	1 lab	2cb583492e
4:6302483 WFS1 A>G	4	6302483	6302483	A	G	WFS1	c.961A>G	NM_006005.3	NP_005996.2:p.(Thr321Ala)	NC_000004.11:g.6302483A>G	VUS	1 lab	2ce3f16ebf
14:57052447 TMEM260 A>AAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGCCAC	14	57052447	57052513	A	AAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGCCAC	TMEM260	c.226_227insCACAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGC	NM_017799.4	NP_060269.3:p.(Leu76ProfsTer8)	NC_000014.8:g.57052512_57052513insCACAACCTTCTAACTGTTGCTAATTTTTCCGTAGGTTGCCCATCCTCCTGGCTATCCTTTGTTCACGC	VUS	1 lab	2cb5f1dd63
12:120653124 PXN G>A	12	120653124	120653124	G	A	PXN	c.2404-48C>T	NM_001385981.1	NP_001372910.1:p.?	NC_000012.11:g.120653124G>A	VUS	1 lab	2cb6a41b87
10:78832998 KCNMA1 T>G	10	78832998	78832998	T	G	KCNMA1	c.1606A>C	NM_001161352.2	NP_001154824.1:p.(Asn536His)	NC_000010.10:g.78832998T>G	VUS	1 lab	2cb88fd27d
10:89623641 PTEN G>A	10	89623641	89623641	G	A	PTEN	c.-586G>A	NM_000314.8	NP_000305.3:p.?	NC_000010.10:g.89623641G>A	(Likely) benign	1 lab	2cb8b79384
2:20867208 GDF7 CCCGCGCCGCGCG>C	2	20867208	20867230	CCCGCGCCGCGCG	C	GDF7	c.220_231del	NM_182828.4	NP_878248.2:p.(Arg74_Ala77del)	NC_000002.11:g.20867219_20867230del	VUS	1 lab	2cba26bab7
15:51221223 AP4E1 A>G	15	51221223	51221223	A	G	AP4E1	c.560A>G	NM_007347.5	NP_031373.2:p.(Lys187Arg)	NC_000015.9:g.51221223A>G	VUS	1 lab	2cba87dae6
12:66219057 HMGA2 G>C	12	66219057	66219057	G	C	HMGA2	c.7G>C	NM_003483.6	NP_003474.1:p.(Ala3Pro)	NC_000012.11:g.66219057G>C	VUS	1 lab	2cbacf96d0
9:35091860 PIGO G>A	9	35091860	35091860	G	A	PIGO	c.2024C>T	NM_032634.4	NP_116023.2:p.(Ala675Val)	NC_000009.11:g.35091860G>A	(Likely) benign	1 lab	2cbd7c484d
X:20034335 MAP7D2 TTTC>T	X	20034335	20034340	TTTC	T	MAP7D2	c.1518_1520del	NM_001168465.2	NP_001161937.1:p.(Lys508del)	NC_000023.10:g.20034338_20034340del	VUS	1 lab	2cbdb4087b
3:127786910 SEC61A1 G>A	3	127786910	127786910	G	A	SEC61A1	c.1244+8G>A	NM_013336.4	NP_037468.1:p.?	NC_000003.11:g.127786910G>A	(Likely) benign	1 lab	2cbe8a7b33
3:174814870 NAALADL2 C>T	3	174814870	174814870	C	T	NAALADL2	c.334C>T	NM_207015.3	NP_996898.2:p.(Arg112Ter)	NC_000003.11:g.174814870C>T	(Likely) benign	1 lab	2cc29e6be2
19:11545665 ODAD3 A>G	19	11545665	11545665	A	G	ODAD3	c.173T>C	NM_145045.5	NP_659482.3:p.(Phe58Ser)	NC_000019.9:g.11545665A>G	(Likely) benign	1 lab	2cc2bcf874
1:108681692 SLC25A24 T>C	1	108681692	108681692	T	C	SLC25A24	c.1237A>G	NM_013386.5	NP_037518.3:p.(Met413Val)	NC_000001.10:g.108681692T>C	VUS	1 lab	2cc680de98
2:238250800 COL6A3 T>C	2	238250800	238250800	T	C	COL6A3	c.7673A>G	NM_004369.4	NP_004360.2:p.(Asn2558Ser)	NC_000002.11:g.238250800T>C	VUS	1 lab	2cc6d6cc16
4:1807410 FGFR3 CGGCGGTGGT>C	4	1807410	1807420	CGGCGGTGGT	C	FGFR3	c.1645+16_1645+24del	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1807412_1807420del	(Likely) benign	1 lab	2cc6ef8ba9
4:119229607 PRSS12 G>A	4	119229607	119229607	G	A	PRSS12	c.1615C>T	NM_003619.4	NP_003610.2:p.(Arg539Cys)	NC_000004.11:g.119229607G>A	VUS	1 lab	2cc8f25ae5
20:1229322 RAD21L1 T>C	20	1229322	1229322	T	C	RAD21L1	c.1454T>C	NM_001384355.1	NP_001371284.1:p.(Ile485Thr)	NC_000020.10:g.1229322T>C	(Likely) benign	1 lab	2cc95dedf6
7:6312102 CYTH3 C>T	7	6312102	6312102	C	T	CYTH3	c.34+3G>A	NM_004227.4	NP_004218.1:p.?	NC_000007.13:g.6312102C>T	(Likely) benign	1 lab	2cc9daba9a
5:149439363 CSF1R T>G	5	149439363	149439363	T	G	CSF1R	c.2032A>C	NM_001288705.3	NP_001275634.1:p.(Lys678Gln)	NC_000005.9:g.149439363T>G	VUS	1 lab	2cc9e046e3
8:77895783 PEX2 A>G	8	77895783	77895783	A	G	PEX2	c.632T>C	NM_000318.3	NP_000309.2:p.(Ile211Thr)	NC_000008.10:g.77895783A>G	VUS	1 lab	2cca854afc
21:47406900 COL6A1 C>G	21	47406900	47406900	C	G	COL6A1	c.631C>G	NM_001848.3	NP_001839.2:p.(Arg211Gly)	NC_000021.8:g.47406900C>G	VUS	1 lab	2ccb3fab2f
16:25704045 HS3ST4 C>G	16	25704045	25704045	C	G	HS3ST4	c.307C>G	NM_006040.3	NP_006031.2:p.(Leu103Val)	NC_000016.9:g.25704045C>G	(Likely) benign	1 lab	2ccc1fb470
2:179595925 TTN C>G	2	179595925	179595925	C	G	TTN	c.17467G>C	NM_001267550.2	NP_001254479.2:p.(Ala5823Pro)	NC_000002.11:g.179595925C>G	(Likely) benign	1 lab	2ccdd643cc
X:73964052 NEXMIF G>T	X	73964052	73964052	G	T	NEXMIF	c.340C>A	NM_001008537.3	NP_001008537.1:p.(Leu114Ile)	NC_000023.10:g.73964052G>T	VUS	1 lab	2ccf42bf82
12:88524152 CEP290 C>T	12	88524152	88524152	C	T	CEP290	c.562G>A	NM_025114.4	NP_079390.3:p.(Asp188Asn)	NC_000012.11:g.88524152C>T	(Likely) benign	1 lab	2ccff5c605
2:152500217 NEB G>A	2	152500217	152500217	G	A	NEB	c.7956+115C>T	NM_001271208.1	NP_001258137.1:p.?	NC_000002.11:g.152500217G>A	(Likely) benign	1 lab	1cf2f88c1c
17:80899349 TBCD T>C	17	80899349	80899349	T	C	TBCD	c.3554T>C	NM_005993.5	NP_005984.3:p.(Leu1185Pro)	NC_000017.10:g.80899349T>C	(Likely) benign	1 lab	2cd02318cc
2:228205097 MFF G>GTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATGGCATTTCAAATATAGATACAACCATTGAAGGAACGTCAGATGACC	2	228205097	228205100	G	GTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATGGCATTTCAAATATAGATACAACCATTGAAGGAACGTCAGATGACC	MFF	c.440+3_440+4insTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATGGCATTTCAAATATAGATACAACCATTGAAGGAACGTCAGATGACCTG	NM_001277062.2	NP_001263991.1:p.?	NC_000002.11:g.228205099_228205100insTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATGGCATTTCAAATATAGATACAACCATTGAAGGAACGTCAGATGACCTG	VUS	1 lab	2cd123993f
16:1618331 IFT140 CCT>C	16	1618331	1618337	CCT	C	IFT140	c.1655_1656del	NM_014714.4	NP_055529.2:p.(Glu552GlyfsTer6)	NC_000016.9:g.1618336_1618337del	(Likely) pathogenic	1 lab	1cf4a9fdd2
20:33033081 ITCH T>C	20	33033081	33033081	T	C	ITCH	c.1089-11T>C	NM_001257137.3	NP_001244066.1:p.?	NC_000020.10:g.33033081T>C	(Likely) benign	1 lab	1cf5e561fc
1:22965441 C1QA C>G	1	22965441	22965441	C	G	C1QA	c.279C>G	NM_015991.4	NP_057075.1:p.(Ala93=)	NC_000001.10:g.22965441C>G	(Likely) benign	1 lab	2cd5fa72b7
4:190989213 MISSING C>T	4	190989213	190989213	C	T	MISSING				NC_000004.11:g.190989213C>T	(Likely) benign	1 lab	2cd72a7a59
5:1266657 TERT T>C	5	1266657	1266657	T	C	TERT	c.2583-7A>G	NM_198253.3	NP_937983.2:p.?	NC_000005.9:g.1266657T>C	(Likely) benign	1 lab	360634533a
16:15802655 MYH11 G>A	16	15802655	15802655	G	A	MYH11	c.5787-4675C>T	NM_002474.3	NP_002465.1:p.?	NC_000016.9:g.15802655G>A	(Likely) benign	1 lab	2cda2fa98a
14:91776264 CCDC88C G>C	14	91776264	91776264	G	C	CCDC88C	c.2803C>G	NM_001080414.4	NP_001073883.2:p.(Leu935Val)	NC_000014.8:g.91776264G>C	VUS	1 lab	2cdbdffcf7
2:220427178 OBSL1 C>T	2	220427178	220427178	C	T	OBSL1	c.2899G>A	NM_015311.3	NP_056126.1:p.(Glu967Lys)	NC_000002.11:g.220427178C>T	VUS	1 lab	2cdf3b43f7
17:44806278 NSF T>G	17	44806278	44806278	T	G	NSF	c.1886T>G	NM_006178.4	NP_006169.2:p.(Leu629Ter)	NC_000017.10:g.44806278T>G	VUS	1 lab	2ce0e20f7e
17:61497497 TANC2 C>T	17	61497497	61497497	C	T	TANC2	c.4406C>T	NM_001394998.1	NP_001381927.1:p.(Pro1469Leu)	NC_000017.10:g.61497497C>T	(Likely) benign	1 lab	2ce1ab1e67
2:238274346 COL6A3 C>A	2	238274346	238274346	C	A	COL6A3	c.5833G>T	NM_004369.4	NP_004360.2:p.(Val1945Leu)	NC_000002.11:g.238274346C>A	VUS	1 lab	2ce2e63529
2:169781298 ABCB11 C>T	2	169781298	169781298	C	T	ABCB11	c.3634G>A	NM_003742.4	NP_003733.2:p.(Val1212Ile)	NC_000002.11:g.169781298C>T	VUS	1 lab	2ce4468fd1
17:41244127 BRCA1 G>C	17	41244127	41244127	G	C	BRCA1	c.3421C>G	NM_007294.4	NP_009225.1:p.(His1141Asp)	NC_000017.10:g.41244127G>C	VUS	1 lab	2ce6242793
9:124064269 GSN A>C	9	124064269	124064269	A	C	GSN	c.20A>C	NM_198252.3	NP_937895.1:p.(Glu7Ala)	NC_000009.11:g.124064269A>C	VUS	1 lab	2ce644d12e
10:88428466 LDB3 C>T	10	88428466	88428466	C	T	LDB3	c.18C>T	NM_001171610.2	NP_001165081.1:p.(Thr6=)	NC_000010.10:g.88428466C>T	(Likely) benign	1 lab	1cf61ad333
2:179558630 TTN A>G	2	179558630	179558630	A	G	TTN	c.31513+19T>C	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179558630A>G	(Likely) benign	1 lab	2ce80c4317
9:140127779 SLC34A3 G>A	9	140127779	140127779	G	A	SLC34A3	c.679G>A	NM_001177316.2	NP_001170787.2:p.(Ala227Thr)	NC_000009.11:g.140127779G>A	(Likely) benign	1 lab	2ce8f321d4
16:836284 RPUSD1 C>G	16	836284	836284	C	G	RPUSD1	c.605G>C	NM_058192.3	NP_478072.1:p.(Arg202Pro)	NC_000016.9:g.836284C>G	(Likely) benign	1 lab	2ce93d9eb6
3:47163031 SETD2 G>A	3	47163031	47163031	G	A	SETD2	c.3095C>T	NM_014159.7	NP_054878.5:p.(Ser1032Phe)	NC_000003.11:g.47163031G>A	(Likely) benign	1 lab	2ce9f2cb98
X:17710588 NHS G>A	X	17710588	17710588	G	A	NHS	c.852G>A	NM_001291867.2	NP_001278796.1:p.(Thr284=)	NC_000023.10:g.17710588G>A	(Likely) benign	1 lab	2cebc78c16
16:58577467 CNOT1 C>G	16	58577467	58577467	C	G	CNOT1	c.4434+44G>C	NM_016284.5	NP_057368.3:p.?	NC_000016.9:g.58577467C>G	(Likely) benign	1 lab	2cecbc65c8
19:49622158 C19orf73 C>T	19	49622158	49622158	C	T	C19orf73	c.122G>A	NM_018111.3	NP_060581.2:p.(Arg41Gln)	NC_000019.9:g.49622158C>T	VUS	1 lab	2cef8afc0d
8:61654677 CHD7 C>T	8	61654677	61654677	C	T	CHD7	c.686C>T	NM_017780.4	NP_060250.2:p.(Thr229Ile)	NC_000008.10:g.61654677C>T	VUS	1 lab	2cf0333a86
4:1718987 TMEM129 C>T	4	1718987	1718987	C	T	TMEM129	c.1009G>A	NM_001127266.2	NP_001120738.1:p.(Asp337Asn)	NC_000004.11:g.1718987C>T	VUS	1 lab	2cf16157a7
12:57113248 NACA G>A	12	57113248	57113248	G	A	NACA	c.2066C>T	NM_001365896.1	NP_001352825.1:p.(Pro689Leu)	NC_000012.11:g.57113248G>A	VUS	1 lab	2cf2260df9
7:100284281 GIGYF1 C>T	7	100284281	100284281	C	T	GIGYF1	c.685G>A	NM_001375765.1	NP_001362694.1:p.(Ala229Thr)	NC_000007.13:g.100284281C>T	(Likely) benign	1 lab	2cf4ef9b52
1:55319119 DHCR24 C>T	1	55319119	55319119	C	T	DHCR24	c.1385G>A	NM_014762.4	NP_055577.1:p.(Arg462His)	NC_000001.10:g.55319119C>T	VUS	1 lab	2cf79bd5b0
15:91454462 MAN2A2 C>T	15	91454462	91454462	C	T	MAN2A2	c.1937C>T	NM_006122.4	NP_006113.2:p.(Ser646Leu)	NC_000015.9:g.91454462C>T	VUS	1 lab	2cfa0f0190
19:50435886 ATF5 CACTA>C	19	50435886	50435890	CACTA	C	ATF5	c.387_390del	NM_001193646.2	NP_001180575.1:p.(Leu130HisfsTer93)	NC_000019.9:g.50435887_50435890del	VUS	1 lab	2cfa568675
16:20966369 DNAH3 T>G	16	20966369	20966369	T	G	DNAH3	c.10699A>C	NM_001347886.2	NP_001334815.1:p.(Thr3567Pro)	NC_000016.9:g.20966369T>G	VUS	1 lab	2cfabe23b0
16:2547121 TBC1D24 C>T	16	2547121	2547121	C	T	TBC1D24	c.965+7C>T	NM_001199107.2	NP_001186036.1:p.?	NC_000016.9:g.2547121C>T	(Likely) benign	1 lab	1cf64f22e8
11:16007743 SOX6 T>C	11	16007743	16007743	T	C	SOX6	c.2183+7A>G	NM_001367873.1	NP_001354802.1:p.?	NC_000011.9:g.16007743T>C	(Likely) benign	1 lab	2cff6f96ef
1:17280746 CROCC C>T	1	17280746	17280746	C	T	CROCC	c.3215C>T	NM_014675.5	NP_055490.4:p.(Thr1072Met)	NC_000001.10:g.17280746C>T	(Likely) benign	1 lab	2d00b10354
4:3495085 DOK7 G>GC	4	3495085	3495091	G	GC	DOK7	c.1378dup	NM_173660.5	NP_775931.3:p.(Gln460ProfsTer59)	NC_000004.11:g.3495091dup	(Likely) pathogenic	1 lab	2d01b44bb3
12:122962438 ZCCHC8 T>G	12	122962438	122962438	T	G	ZCCHC8	c.1295A>C	NM_017612.5	NP_060082.2:p.(Lys432Thr)	NC_000012.11:g.122962438T>G	VUS	1 lab	2d0239d248
15:90171684 KIF7 GGGCTGGCTCGTC>G	15	90171684	90171697	GGGCTGGCTCGTC	G	KIF7	c.3986_3997del	NM_198525.3	NP_940927.2:p.(Arg1329_Ser1332del)	NC_000015.9:g.90171686_90171697del	VUS	1 lab	2d028e0ff4
X:77224694 ATP7A C>G	X	77224694	77224694	C	G	ATP7A	c.-21-2424C>G	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77224694C>G	VUS	1 lab	2d032635e7
17:9583584 USP43 C>T	17	9583584	9583584	C	T	USP43	c.1006C>T	NM_153210.5	NP_694942.3:p.(Arg336Trp)	NC_000017.10:g.9583584C>T	VUS	1 lab	2d05fa32a6
19:34706203 LSM14A G>A	19	34706203	34706203	G	A	LSM14A	c.713G>A	NM_015578.4	NP_056393.2:p.(Arg238Gln)	NC_000019.9:g.34706203G>A	(Likely) benign	1 lab	2d06719248
2:105472719 POU3F3 G>T	2	105472719	105472719	G	T	POU3F3	c.751G>T	NM_006236.3	NP_006227.1:p.(Ala251Ser)	NC_000002.11:g.105472719G>T	VUS	1 lab	2d0b084b54
8:90982656 NBN A>T	8	90982656	90982656	A	T	NBN	c.832T>A	NM_002485.5	NP_002476.2:p.(Ser278Thr)	NC_000008.10:g.90982656A>T	(Likely) benign	1 lab	2d0c55cc3d
16:2154604 PKD1 G>A	16	2154604	2154604	G	A	PKD1	c.8056C>T	NM_001009944.3	NP_001009944.3:p.(Gln2686Ter)	NC_000016.9:g.2154604G>A	(Likely) pathogenic	1 lab	2d0cceec1a
X:53655575 HUWE1 C>T	X	53655575	53655575	C	T	HUWE1	c.1115-4G>A	NM_031407.7	NP_113584.3:p.?	NC_000023.10:g.53655575C>T	(Likely) benign	1 lab	2d0d4127b1
1:111490690 LRIF1 G>A	1	111490690	111490690	G	A	LRIF1	c.2201C>T	NM_018372.4	NP_060842.3:p.(Pro734Leu)	NC_000001.10:g.111490690G>A	VUS	1 lab	2d1066d2b3
16:70553543 COG4 CAG>C	16	70553543	70553546	CAG	C	COG4	c.254+7_254+8del	NM_015386.3	NP_056201.2:p.?	NC_000016.9:g.70553545_70553546del	VUS	1 lab	2d12e000fc
2:170163836 LRP2 C>T	2	170163836	170163836	C	T	LRP2	c.382G>A	NM_004525.3	NP_004516.2:p.(Asp128Asn)	NC_000002.11:g.170163836C>T	VUS	1 lab	2d12eb741f
12:69090594 NUP107 T>G	12	69090594	69090594	T	G	NUP107	c.449-5T>G	NM_020401.4	NP_065134.1:p.?	NC_000012.11:g.69090594T>G	VUS	1 lab	2d1324be95
12:79783946 SYT1 C>T	12	79783946	79783946	C	T	SYT1	c.928+36547C>T	NM_005639.3	NP_005630.1:p.?	NC_000012.11:g.79783946C>T	(Likely) benign	1 lab	2d13a76eaa
X:148627337 EOLA1 G>A	X	148627337	148627337	G	A	EOLA1	c.161G>A	NM_001171907.3	NP_001165378.1:p.(Arg54Gln)	NC_000023.10:g.148627337G>A	(Likely) benign	1 lab	2d13ad3a78
1:156640673 NES G>C	1	156640673	156640673	G	C	NES	c.3307C>G	NM_006617.2	NP_006608.1:p.(Gln1103Glu)	NC_000001.10:g.156640673G>C	(Likely) benign	1 lab	2d13c55a8c
11:134037982 NCAPD3 G>T	11	134037982	134037982	G	T	NCAPD3	c.3482C>A	NM_015261.3	NP_056076.1:p.(Ser1161Tyr)	NC_000011.9:g.134037982G>T	(Likely) benign	1 lab	2d14a4036e
9:78854033 PCSK5 T>A	9	78854033	78854033	T	A	PCSK5	c.3025T>A	NM_001372043.1	NP_001358972.1:p.(Phe1009Ile)	NC_000009.11:g.78854033T>A	(Likely) benign	1 lab	2d15003568
6:53363773 GCLC C>T	6	53363773	53363773	C	T	GCLC	c.1703-8G>A	NM_001498.4	NP_001489.1:p.?	NC_000006.11:g.53363773C>T	(Likely) benign	1 lab	1cf705bdeb
9:35737224 GBA2 A>AGTCCTGTGCCCTGTTT	9	35737224	35737241	A	AGTCCTGTGCCCTGTTT	GBA2	c.2710_2725dup	NM_020944.3	NP_065995.1:p.(Leu909GlnfsTer49)	NC_000009.11:g.35737226_35737241dup	VUS	1 lab	2d1707cf42
5:11384990 CTNND2 A>T	5	11384990	11384990	A	T	CTNND2	c.964T>A	NM_001332.4	NP_001323.1:p.(Ser322Thr)	NC_000005.9:g.11384990A>T	VUS	1 lab	2d191dffe5
14:92473994 TRIP11 T>G	14	92473994	92473994	T	G	TRIP11	c.1517A>C	NM_004239.4	NP_004230.2:p.(Glu506Ala)	NC_000014.8:g.92473994T>G	(Likely) benign	1 lab	2d19a66f03
17:57119210 TRIM37 C>T	17	57119210	57119210	C	T	TRIM37	c.1717G>A	NM_015294.6	NP_056109.1:p.(Glu573Lys)	NC_000017.10:g.57119210C>T	VUS	1 lab	2d1a1d2545
15:35045248 GJD2 C>T	15	35045248	35045248	C	T	GJD2	c.397G>A	NM_020660.3	NP_065711.1:p.(Gly133Arg)	NC_000015.9:g.35045248C>T	VUS	1 lab	2d20ecfe7b
16:624736 PIGQ C>T	16	624736	624736	C	T	PIGQ	c.662C>T	NM_004204.5	NP_004195.2:p.(Ser221Leu)	NC_000016.9:g.624736C>T	VUS	1 lab	2d211f0e26
21:47838153 PCNT T>G	21	47838153	47838153	T	G	PCNT	c.6957T>G	NM_006031.6	NP_006022.3:p.(Phe2319Leu)	NC_000021.8:g.47838153T>G	(Likely) benign	1 lab	2d22a10c5e
1:231411919 GNPAT C>CAACCAAATT	1	231411919	231411929	C	CAACCAAATT	GNPAT	c.1978_1986dup	NM_014236.4	NP_055051.1:p.(Thr660_Leu662dup)	NC_000001.10:g.231411921_231411929dup	VUS	1 lab	2d238f1baf
2:98737771 VWA3B A>T	2	98737771	98737771	A	T	VWA3B	c.552A>T	NM_144992.5	NP_659429.4:p.(Gln184His)	NC_000002.11:g.98737771A>T	VUS	1 lab	2d239e8bff
10:74937677 FAM149B1 T>C	10	74937677	74937677	T	C	FAM149B1	c.226T>C	NM_173348.2	NP_775483.1:p.(Tyr76His)	NC_000010.10:g.74937677T>C	VUS	1 lab	2d23b54e9a
20:44640901 MMP9 A>C	20	44640901	44640901	A	C	MMP9	c.1123A>C	NM_004994.3	NP_004985.2:p.(Thr375Pro)	NC_000020.10:g.44640901A>C	VUS	1 lab	2d245a5394
16:89250044 CDH15 G>A	16	89250044	89250044	G	A	CDH15	c.446G>A	NM_004933.3	NP_004924.1:p.(Arg149Gln)	NC_000016.9:g.89250044G>A	VUS	1 lab	37419bbc62
3:129225321 IFT122 C>T	3	129225321	129225321	C	T	IFT122	c.2720C>T	NM_052989.3	NP_443715.1:p.(Ala907Val)	NC_000003.11:g.129225321C>T	(Likely) benign	1 lab	2d25ff767f
16:30768843 PHKG2 C>T	16	30768843	30768843	C	T	PHKG2	c.*425C>T	NM_000294.3	NP_000285.1:p.?	NC_000016.9:g.30768843C>T	VUS	1 lab	2d27f2d659
14:105206110 ADSS1 G>A	14	105206110	105206110	G	A	ADSS1	c.433G>A	NM_152328.5	NP_689541.1:p.(Asp145Asn)	NC_000014.8:g.105206110G>A	VUS	1 lab	2d283cb2e9
12:39997727 ABCD2 C>T	12	39997727	39997727	C	T	ABCD2	c.1487G>A	NM_005164.4	NP_005155.1:p.(Arg496Lys)	NC_000012.11:g.39997727C>T	VUS	1 lab	1c956a5e71
4:110223141 COL25A1 C>A	4	110223141	110223141	C	A	COL25A1	c.35G>T	NM_198721.4	NP_942014.1:p.(Gly12Val)	NC_000004.11:g.110223141C>A	VUS	1 lab	2d29484968
8:59512413 NSMAF T>C	8	59512413	59512413	T	C	NSMAF	c.1349A>G	NM_003580.4	NP_003571.2:p.(Tyr450Cys)	NC_000008.10:g.59512413T>C	VUS	1 lab	2d2b263d5c
22:51117522 SHANK3 G>T	22	51117522	51117522	G	T	SHANK3	c.901G>T	NM_001372044.2	NP_001358973.1:p.(Gly301Trp)	NC_000022.10:g.51117522G>T	VUS	1 lab	2d2ceefbaf
20:62326262 RTEL1 A>G	20	62326262	62326262	A	G	RTEL1	c.3278A>G	NM_001283009.2	NP_001269938.1:p.(Asp1093Gly)	NC_000020.10:g.62326262A>G	(Likely) benign	1 lab	2d2deac5b7
11:6638619 TPP1 A>G	11	6638619	6638619	A	G	TPP1	c.421T>C	NM_000391.4	NP_000382.3:p.(Tyr141His)	NC_000011.9:g.6638619A>G	VUS	1 lab	2d2e4a6e1c
17:18129048 LLGL1 C>T	17	18129048	18129048	C	T	LLGL1	c.52C>T	NM_004140.4	NP_004131.4:p.(Leu18Phe)	NC_000017.10:g.18129048C>T	VUS	1 lab	2d2fcf0081
4:74007978 ANKRD17 G>T	4	74007978	74007978	G	T	ANKRD17	c.2210C>A	NM_032217.5	NP_115593.3:p.(Pro737Gln)	NC_000004.11:g.74007978G>T	VUS	1 lab	2d3000301f
4:3494856 DOK7 C>T	4	3494856	3494856	C	T	DOK7	c.1143C>T	NM_173660.5	NP_775931.3:p.(Pro381=)	NC_000004.11:g.3494856C>T	(Likely) benign	1 lab	2d302a6543
16:1550474 TELO2 C>T	16	1550474	1550474	C	T	TELO2	c.1129C>T	NM_016111.4	NP_057195.2:p.(Arg377Trp)	NC_000016.9:g.1550474C>T	VUS	1 lab	2d31f0f8df
17:48272114 COL1A1 G>C	17	48272114	48272114	G	C	COL1A1	c.1429C>G	NM_000088.4	NP_000079.2:p.(Pro477Ala)	NC_000017.10:g.48272114G>C	VUS	1 lab	1c991171f4
10:16528436 PTER C>T	10	16528436	16528436	C	T	PTER	c.518C>T	NM_001261836.2	NP_001248765.1:p.(Ser173Phe)	NC_000010.10:g.16528436C>T	VUS	1 lab	2d33271b3a
9:35811697 SPAG8 C>T	9	35811697	35811697	C	T	SPAG8	c.346G>A	NM_001039592.2	NP_001034681.1:p.(Val116Ile)	NC_000009.11:g.35811697C>T	(Likely) benign	1 lab	2d34ecc0ee
22:40066816 CACNA1I C>T	22	40066816	40066816	C	T	CACNA1I	c.4396C>T	NM_021096.4	NP_066919.2:p.(Arg1466Trp)	NC_000022.10:g.40066816C>T	VUS	1 lab	1c9a4f085c
7:2578847 BRAT1 G>A	7	2578847	2578847	G	A	BRAT1	c.1736C>T	NM_152743.4	NP_689956.2:p.(Ala579Val)	NC_000007.13:g.2578847G>A	VUS	1 lab	2d353e4a5f
12:52681822 KRT86 A>T	12	52681822	52681822	A	T	KRT86	c.-5+12092A>T	NM_001320198.2	NP_001307127.1:p.?	NC_000012.11:g.52681822A>T	VUS	1 lab	2d369ba200
X:11197553 ARHGAP6 C>T	X	11197553	11197553	C	T	ARHGAP6	c.1349G>A	NM_013427.3	NP_038286.2:p.(Arg450His)	NC_000023.10:g.11197553C>T	(Likely) benign	1 lab	2d3a42bc50
4:3495111 DOK7 GCCTGGC>G	4	3495111	3495121	GCCTGGC	G	DOK7	c.1403_1408del	NM_173660.5	NP_775931.3:p.(Gly468_Pro469del)	NC_000004.11:g.3495116_3495121del	VUS	1 lab	2d3c09da5c
12:116429646 MED13L A>T	12	116429646	116429646	A	T	MED13L	c.3113T>A	NM_015335.5	NP_056150.1:p.(Leu1038Gln)	NC_000012.11:g.116429646A>T	(Likely) benign	1 lab	2d3c5f01fd
2:136743017 DARS1 G>GGCTGGC	2	136743017	136743034	G	GGCTGGC	DARS1	c.16_21dup	NM_001349.4	NP_001340.2:p.(Ala6_Ser7dup)	NC_000002.11:g.136743029_136743034dup	VUS	1 lab	2d3d005f49
10:73571482 CDH23 G>T	10	73571482	73571482	G	T	CDH23	c.9291G>T	NM_022124.6	NP_071407.4:p.(Lys3097Asn)	NC_000010.10:g.73571482G>T	VUS	1 lab	2d3d19216a
16:2157963 PKD1 C>T	16	2157963	2157963	C	T	PKD1	c.6986G>A	NM_001009944.3	NP_001009944.3:p.(Arg2329Gln)	NC_000016.9:g.2157963C>T	(Likely) benign	1 lab	2d3f43beb4
20:2845625 VPS16 G>A	20	2845625	2845625	G	A	VPS16	c.1928G>A	NM_022575.4	NP_072097.2:p.(Arg643His)	NC_000020.10:g.2845625G>A	VUS	1 lab	2d4108c716
10:73559310 CDH23 C>A	10	73559310	73559310	C	A	CDH23	c.7286C>A	NM_022124.6	NP_071407.4:p.(Ala2429Asp)	NC_000010.10:g.73559310C>A	VUS	1 lab	2d41f22672
X:117043629 KLHL13 G>A	X	117043629	117043629	G	A	KLHL13	c.953C>T	NM_001168302.2	NP_001161774.1:p.(Ala318Val)	NC_000023.10:g.117043629G>A	VUS	1 lab	2d42aedd08
6:32552138 HLA-DRB1 G>C	6	32552138	32552138	G	C	HLA-DRB1	c.118C>G	NM_002124.4	NP_002115.2:p.(Pro40Ala)	NC_000006.11:g.32552138G>C	(Likely) benign	1 lab	2d434787c3
4:83838777 THAP9 A>C	4	83838777	83838777	A	C	THAP9	c.1412A>C	NM_024672.6	NP_078948.3:p.(His471Pro)	NC_000004.11:g.83838777A>C	VUS	1 lab	2d45986689
12:6635478 NCAPD2 C>G	12	6635478	6635478	C	G	NCAPD2	c.2507C>G	NM_014865.4	NP_055680.3:p.(Pro836Arg)	NC_000012.11:g.6635478C>G	VUS	1 lab	2d5e5d7df7
8:141461079 TRAPPC9 C>T	8	141461079	141461079	C	T	TRAPPC9	c.394G>A	NM_001160372.4	NP_001153844.1:p.(Val132Met)	NC_000008.10:g.141461079C>T	(Likely) benign	1 lab	2d4633b2ad
16:2147491 PKD1 G>A	16	2147491	2147491	G	A	PKD1	c.10234C>T	NM_001009944.3	NP_001009944.3:p.(Pro3412Ser)	NC_000016.9:g.2147491G>A	(Likely) benign	1 lab	2d4772ebe2
17:26988743 SDF2 C>G	17	26988743	26988743	C	G	SDF2	c.151+1G>C	NM_006923.4	NP_008854.2:p.?	NC_000017.10:g.26988743C>G	VUS	1 lab	2d478c0594
1:27875374 AHDC1 C>T	1	27875374	27875374	C	T	AHDC1	c.3253G>A	NM_001371928.1	NP_001358857.1:p.(Ala1085Thr)	NC_000001.10:g.27875374C>T	(Likely) benign	1 lab	2d47cf6d0f
17:31072249 MYO1D G>A	17	31072249	31072249	G	A	MYO1D	c.1593C>T	NM_015194.3	NP_056009.1:p.(Phe531=)	NC_000017.10:g.31072249G>A	VUS	1 lab	2d48b4371c
3:48624418 COL7A1 G>A	3	48624418	48624418	G	A	COL7A1	c.3263C>T	NM_000094.4	NP_000085.1:p.(Pro1088Leu)	NC_000003.11:g.48624418G>A	VUS	1 lab	2d4909454d
3:127783740 SEC61A1 A>G	3	127783740	127783740	A	G	SEC61A1	c.637A>G	NM_013336.4	NP_037468.1:p.(Ile213Val)	NC_000003.11:g.127783740A>G	(Likely) benign	1 lab	1c9e09d095
21:47818172 PCNT GAGGAGG>AAGGAGT	21	47818172	47818178	GAGGAGG	AAGGAGT	PCNT	c.4584+3_4584+9delinsAAGGAGT	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47818172_47818178delinsAAGGAGT	(Likely) benign	1 lab	2d497541ae
12:52886461 KRT6A T>C	12	52886461	52886461	T	C	KRT6A	c.512A>G	NM_005554.4	NP_005545.1:p.(Asn171Ser)	NC_000012.11:g.52886461T>C	(Likely) pathogenic	1 lab	1c9d36c632
9:140865852 CACNA1B G>A	9	140865852	140865852	G	A	CACNA1B	c.1351G>A	NM_000718.4	NP_000709.1:p.(Ala451Thr)	NC_000009.11:g.140865852G>A	VUS	1 lab	2d4d681ddf
22:31859102 EIF4ENIF1 A>C	22	31859102	31859102	A	C	EIF4ENIF1	c.603T>G	NM_019843.4	NP_062817.2:p.(Ser201Arg)	NC_000022.10:g.31859102A>C	(Likely) benign	1 lab	2d4d7ff690
17:57760087 CLTC A>T	17	57760087	57760087	A	T	CLTC	c.3698A>T	NM_004859.4	NP_004850.1:p.(His1233Leu)	NC_000017.10:g.57760087A>T	VUS	1 lab	2d4ddddc8c
16:67970316 PSMB10 CG>C	16	67970316	67970317	CG	C	PSMB10	c.128del	NM_002801.4	NP_002792.1:p.(Ala43GlyfsTer45)	NC_000016.9:g.67970317del	VUS	1 lab	2d4e01f053
14:77900597 VIPAS39 G>C	14	77900597	77900597	G	C	VIPAS39	c.1089+8C>G	NM_001193315.2	NP_001180244.1:p.?	NC_000014.8:g.77900597G>C	(Likely) benign	1 lab	2d4eabda29
11:117209550 CEP164 T>G	11	117209550	117209550	T	G	CEP164	c.82+166T>G	NM_014956.5	NP_055771.4:p.?	NC_000011.9:g.117209550T>G	(Likely) benign	1 lab	1cf796a3a6
2:86255012 POLR1A C>A	2	86255012	86255012	C	A	POLR1A	c.5058G>T	NM_015425.6	NP_056240.2:p.(Met1686Ile)	NC_000002.11:g.86255012C>A	VUS	1 lab	2d51917684
4:187113021 CYP4V2 T>C	4	187113021	187113021	T	C	CYP4V2	c.44T>C	NM_207352.4	NP_997235.3:p.(Leu15Pro)	NC_000004.11:g.187113021T>C	VUS	1 lab	2d523a7ad0
18:10752848 PIEZO2 A>G	18	10752848	10752848	A	G	PIEZO2	c.3953T>C	NM_001378183.1	NP_001365112.1:p.(Ile1318Thr)	NC_000018.9:g.10752848A>G	VUS	1 lab	2d52454961
22:41545024 EP300 G>GT	22	41545024	41545038	G	GT	EP300	c.2242-4dup	NM_001429.4	NP_001420.2:p.?	NC_000022.10:g.41545038dup	(Likely) benign	1 lab	2d55110ea7
9:109686993 ZNF462 G>A	9	109686993	109686993	G	A	ZNF462	c.800G>A	NM_021224.6	NP_067047.4:p.(Arg267His)	NC_000009.11:g.109686993G>A	(Likely) benign	1 lab	2d55c63de3
11:17452389 ABCC8 C>T	11	17452389	17452389	C	T	ABCC8	c.1789G>A	NM_000352.6	NP_000343.2:p.(Val597Ile)	NC_000011.9:g.17452389C>T	VUS	1 lab	2d561ed2ca
16:72831446 ZFHX3 C>A	16	72831446	72831446	C	A	ZFHX3	c.5135G>T	NM_006885.4	NP_008816.3:p.(Arg1712Leu)	NC_000016.9:g.72831446C>A	VUS	1 lab	2d58f03cf0
8:17796298 PCM1 A>G	8	17796298	17796298	A	G	PCM1	c.392A>G	NM_006197.4	NP_006188.4:p.(Lys131Arg)	NC_000008.10:g.17796298A>G	VUS	1 lab	2d59b70b62
2:220419444 OBSL1 A>G	2	220419444	220419444	A	G	OBSL1	c.4628T>C	NM_015311.3	NP_056126.1:p.(Leu1543Pro)	NC_000002.11:g.220419444A>G	(Likely) benign	1 lab	2d5ab91732
14:21882504 CHD8 G>A	14	21882504	21882504	G	A	CHD8	c.2098C>T	NM_001170629.2	NP_001164100.1:p.(Arg700Cys)	NC_000014.8:g.21882504G>A	VUS	1 lab	2d5da6d5bb
4:89978263 FAM13A T>G	4	89978263	89978263	T	G	FAM13A	c.-148A>C	NM_014883.4	NP_055698.2:p.?	NC_000004.11:g.89978263T>G	(Likely) benign	1 lab	2d5e4cd9c5
9:35808860 NPR2 T>A	9	35808860	35808860	T	A	NPR2	c.2986+10T>A	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35808860T>A	(Likely) benign	1 lab	2d5e7812a4
5:67568093 PIK3R1 A>AAG	5	67568093	67568095	A	AAG	PIK3R1	c.335-1124_335-1123insGA	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67568094_67568095insGA	(Likely) benign	1 lab	2d5f34f0fb
16:29675443 SPN G>A	16	29675443	29675443	G	A	SPN	c.394G>A	NM_003123.6	NP_003114.1:p.(Gly132Ser)	NC_000016.9:g.29675443G>A	(Likely) benign	1 lab	2d6188f672
4:6303444 WFS1 C>A	4	6303444	6303444	C	A	WFS1	c.1922C>A	NM_006005.3	NP_005996.2:p.(Thr641Lys)	NC_000004.11:g.6303444C>A	(Likely) pathogenic	1 lab	2d6212caa5
2:74328879 TET3 C>T	2	74328879	74328879	C	T	TET3	c.4964C>T	NM_001287491.2	NP_001274420.1:p.(Ala1655Val)	NC_000002.11:g.74328879C>T	VUS	1 lab	2d62144229
16:3075808 THOC6 C>T	16	3075808	3075808	C	T	THOC6	c.139C>T	NM_024339.5	NP_077315.2:p.(Gln47Ter)	NC_000016.9:g.3075808C>T	(Likely) pathogenic	1 lab	2d62bde238
3:136463205 STAG1 T>C	3	136463205	136463205	T	C	STAG1	c.-84+7832A>G	NM_005862.3	NP_005853.2:p.?	NC_000003.11:g.136463205T>C	(Likely) benign	1 lab	2d63cdff28
6:33744759 LEMD2 G>A	6	33744759	33744759	G	A	LEMD2	c.1333C>T	NM_181336.4	NP_851853.1:p.(Arg445Cys)	NC_000006.11:g.33744759G>A	VUS	1 lab	2d64607861
1:8414773 RERE G>A	1	8414773	8414773	G	A	RERE	c.*374C>T	NM_001042681.2	NP_001036146.1:p.?	NC_000001.10:g.8414773G>A	VUS	1 lab	2d673284aa
4:82064101 PRKG2 C>T	4	82064101	82064101	C	T	PRKG2	c.1254G>A	NM_006259.3	NP_006250.1:p.(Lys418=)	NC_000004.11:g.82064101C>T	VUS	1 lab	2d6a1c1e8f
17:72340432 KIF19 AG>A	17	72340432	72340437	AG	A	KIF19	c.532del	NM_153209.4	NP_694941.2:p.(Val178Ter)	NC_000017.10:g.72340437del	VUS	1 lab	2d6a7cd52e
2:220416508 OBSL1 T>C	2	220416508	220416508	T	C	OBSL1	c.5426A>G	NM_015311.3	NP_056126.1:p.(Gln1809Arg)	NC_000002.11:g.220416508T>C	VUS	1 lab	2d6bc4bffc
11:107396311 ALKBH8 A>C	11	107396311	107396311	A	C	ALKBH8	c.886T>G	NM_138775.3	NP_620130.2:p.(Cys296Gly)	NC_000011.9:g.107396311A>C	VUS	1 lab	2d6c1f1ee0
5:176024119 GPRIN1 G>A	5	176024119	176024119	G	A	GPRIN1	c.2717C>T	NM_052899.3	NP_443131.2:p.(Pro906Leu)	NC_000005.9:g.176024119G>A	(Likely) benign	1 lab	2d6cebb2d2
20:60886078 LAMA5 G>A	20	60886078	60886078	G	A	LAMA5	c.10161C>T	NM_005560.6	NP_005551.3:p.(Pro3387=)	NC_000020.10:g.60886078G>A	(Likely) benign	1 lab	2d6d309606
15:89388872 ACAN C>T	15	89388872	89388872	C	T	ACAN	c.1188C>T	NM_001369268.1	NP_001356197.1:p.(Ser396=)	NC_000015.9:g.89388872C>T	(Likely) benign	1 lab	2d6de0e082
2:179426474 TTN C>A	2	179426474	179426474	C	A	TTN	c.84385G>T	NM_001267550.2	NP_001254479.2:p.(Val28129Phe)	NC_000002.11:g.179426474C>A	VUS	1 lab	2d6f0ce8a7
8:145004424 PLEC C>T	8	145004424	145004424	C	T	PLEC	c.2500G>A	NM_201384.3	NP_958786.1:p.(Ala834Thr)	NC_000008.10:g.145004424C>T	VUS	1 lab	2d727dbeec
7:44186129 GCK C>T	7	44186129	44186129	C	T	GCK	c.952G>A	NM_000162.5	NP_000153.1:p.(Gly318Arg)	NC_000007.13:g.44186129C>T	(Likely) pathogenic	1 lab	2d72bb4630
3:170732327 SLC2A2 A>G	3	170732327	170732327	A	G	SLC2A2	c.302T>C	NM_000340.2	NP_000331.1:p.(Val101Ala)	NC_000003.11:g.170732327A>G	VUS	1 lab	2d7632b6b5
17:17700629 RAI1 A>C	17	17700629	17700629	A	C	RAI1	c.4367A>C	NM_030665.4	NP_109590.3:p.(His1456Pro)	NC_000017.10:g.17700629A>C	(Likely) benign	1 lab	2d7671cb41
4:123664554 BBS12 G>A	4	123664554	123664554	G	A	BBS12	c.1507G>A	NM_152618.3	NP_689831.2:p.(Val503Met)	NC_000004.11:g.123664554G>A	VUS	1 lab	2d76b03b68
12:116714978 MED13L G>A	12	116714978	116714978	G	A	MED13L	c.-42C>T	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116714978G>A	VUS	1 lab	2d770158e6
12:23887632 SOX5 G>A	12	23887632	23887632	G	A	SOX5	c.796C>T	NM_006940.6	NP_008871.3:p.(Gln266Ter)	NC_000012.11:g.23887632G>A	(Likely) pathogenic	1 lab	2d77ff73d4
5:156716025 CYFIP2 G>A	5	156716025	156716025	G	A	CYFIP2	c.207+1908G>A	NM_001037333.3	NP_001032410.1:p.?	NC_000005.9:g.156716025G>A	(Likely) benign	1 lab	2d78aef986
11:102824968 MMP13 A>G	11	102824968	102824968	A	G	MMP13	c.554T>C	NM_002427.4	NP_002418.1:p.(Leu185Pro)	NC_000011.9:g.102824968A>G	VUS	1 lab	2d7c7fb037
8:143961153 CYP11B1 G>A	8	143961153	143961153	G	A	CYP11B1	c.77C>T	NM_000497.4	NP_000488.3:p.(Thr26Met)	NC_000008.10:g.143961153G>A	(Likely) benign	1 lab	2d7dd6a97d
1:158669774 OR6K2 C>CT	1	158669774	158669775	C	CT	OR6K2	c.668_669insA	NM_001005279.3	NP_001005279.1:p.(Ala224GlyfsTer69)	NC_000001.10:g.158669774_158669775insT	VUS	1 lab	2d7e25bc58
X:153580072 FLNA G>T	X	153580072	153580072	G	T	FLNA	c.6908-8C>A	NM_001110556.2	NP_001104026.1:p.?	NC_000023.10:g.153580072G>T	VUS	1 lab	2d7e660aa8
7:100334145 ZAN C>T	7	100334145	100334145	C	T	ZAN	c.146C>T	NM_003386.3	NP_003377.2:p.(Pro49Leu)	NC_000007.13:g.100334145C>T	VUS	1 lab	2d804722e2
15:33445438 FMN1 G>A	15	33445438	33445438	G	A	FMN1	c.1678C>T	NM_001277313.2	NP_001264242.1:p.(Arg560Cys)	NC_000015.9:g.33445438G>A	(Likely) benign	1 lab	2d815013d7
9:134014642 NUP214 CTTTTTTTTTTTTT>C	9	134014642	134014665	CTTTTTTTTTTTTT	C	NUP214	c.1006-15_1006-3del	NM_005085.4	NP_005076.3:p.?	NC_000009.11:g.134014653_134014665del	(Likely) benign	1 lab	2d822bc1f4
9:140605433 EHMT1 G>C	9	140605433	140605433	G	C	EHMT1	c.36G>C	NM_024757.5	NP_079033.4:p.(Arg12Ser)	NC_000009.11:g.140605433G>C	(Likely) benign	1 lab	2d82586140
8:106814695 ZFPM2 C>G	8	106814695	106814695	C	G	ZFPM2	c.2385C>G	NM_012082.4	NP_036214.2:p.(Val795=)	NC_000008.10:g.106814695C>G	(Likely) benign	1 lab	2d83213995
22:37271876 NCF4 G>A	22	37271876	37271876	G	A	NCF4	c.809G>A	NM_013416.3	NP_038202.2:p.(Arg270Gln)	NC_000022.10:g.37271876G>A	(Likely) benign	1 lab	1cfdc46d15
20:43043173 HNF4A C>A	20	43043173	43043173	C	A	HNF4A	c.519C>A	NM_000457.5	NP_000448.3:p.(Asn173Lys)	NC_000020.10:g.43043173C>A	VUS	1 lab	2d853e55de
20:35884872 GHRH G>A	20	35884872	35884872	G	A	GHRH	c.113C>T	NM_021081.6	NP_066567.1:p.(Thr38Ile)	NC_000020.10:g.35884872G>A	VUS	1 lab	2d85591bc5
19:5696157 LONP1 C>T	19	5696157	5696157	C	T	LONP1	c.1921G>A	NM_004793.4	NP_004784.2:p.(Val641Ile)	NC_000019.9:g.5696157C>T	(Likely) benign	1 lab	2d8609a23b
16:9943758 GRIN2A A>G	16	9943758	9943758	A	G	GRIN2A	c.1183T>C	NM_001134407.3	NP_001127879.1:p.(Ser395Pro)	NC_000016.9:g.9943758A>G	VUS	1 lab	2d88acd057
18:8831675 MTCL1 G>A	18	8831675	8831675	G	A	MTCL1	c.5873G>A	NM_001395333.1	NP_001382262.1:p.(Arg1958His)	NC_000018.9:g.8831675G>A	VUS	1 lab	2d8984e318
7:94039047 COL1A2 G>A	7	94039047	94039047	G	A	COL1A2	c.949G>A	NM_000089.4	NP_000080.2:p.(Val317Ile)	NC_000007.13:g.94039047G>A	VUS	1 lab	1cadc594e1
22:41537188 EP300 G>A	22	41537188	41537188	G	A	EP300	c.2015G>A	NM_001429.4	NP_001420.2:p.(Gly672Glu)	NC_000022.10:g.41537188G>A	VUS	1 lab	2d8b09f56a
17:3402257 ASPA G>A	17	3402257	3402257	G	A	ASPA	c.817G>A	NM_000049.4	NP_000040.1:p.(Gly273Ser)	NC_000017.10:g.3402257G>A	VUS	1 lab	2d8b73c67f
2:128075782 MAP3K2 T>C	2	128075782	128075782	T	C	MAP3K2	c.1157A>G	NM_001371910.2	NP_001358839.1:p.(Gln386Arg)	NC_000002.11:g.128075782T>C	VUS	1 lab	2d8be90020
X:151123279 GABRE C>T	X	151123279	151123279	C	T	GABRE	c.1415G>A	NM_004961.4	NP_004952.2:p.(Arg472His)	NC_000023.10:g.151123279C>T	(Likely) benign	1 lab	2d9cf7e6ec
14:58925210 KIAA0586 A>G	14	58925210	58925210	A	G	KIAA0586	c.1603A>G	NM_001329943.3	NP_001316872.1:p.(Arg535Gly)	NC_000014.8:g.58925210A>G	VUS	1 lab	2d8d472660
1:160106824 ATP1A2 G>A	1	160106824	160106824	G	A	ATP1A2	c.2840+3G>A	NM_000702.4	NP_000693.1:p.?	NC_000001.10:g.160106824G>A	(Likely) benign	1 lab	2d911991ee
7:38901985 VPS41 C>T	7	38901985	38901985	C	T	VPS41	c.246+160G>A	NM_014396.4	NP_055211.2:p.?	NC_000007.13:g.38901985C>T	(Likely) benign	1 lab	2d92515164
11:70507850 SHANK2 C>T	11	70507850	70507850	C	T	SHANK2	c.1854-67G>A	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70507850C>T	VUS	1 lab	2d94f80c93
9:78943039 PCSK5 C>T	9	78943039	78943039	C	T	PCSK5	c.4454C>T	NM_001372043.1	NP_001358972.1:p.(Ser1485Phe)	NC_000009.11:g.78943039C>T	(Likely) benign	1 lab	2d964042c1
17:40696203 NAGLU G>A	17	40696203	40696203	G	A	NAGLU	c.2179G>A	NM_000263.4	NP_000254.2:p.(Ala727Thr)	NC_000017.10:g.40696203G>A	VUS	1 lab	2d987bdab0
20:19955596 RIN2 CAGG>C	20	19955596	19955599	CAGG	C	RIN2	c.928_930del	NM_018993.4	NP_061866.1:p.(Arg310del)	NC_000020.10:g.19955597_19955599del	(Likely) benign	1 lab	2d98d00ff3
2:183806866 NCKAP1 A>G	2	183806866	183806866	A	G	NCKAP1	c.2627T>C	NM_013436.5	NP_038464.1:p.(Val876Ala)	NC_000002.11:g.183806866A>G	VUS	1 lab	2d9bdba8aa
14:75573322 NEK9 G>A	14	75573322	75573322	G	A	NEK9	c.1411C>T	NM_033116.6	NP_149107.4:p.(Pro471Ser)	NC_000014.8:g.75573322G>A	VUS	1 lab	2d9c3965d9
2:225658180 DOCK10 A>G	2	225658180	225658180	A	G	DOCK10	c.5155-6T>C	NM_014689.3	NP_055504.2:p.?	NC_000002.11:g.225658180A>G	(Likely) benign	1 lab	2d9c7d5fb6
1:200972824 KIF21B G>A	1	200972824	200972824	G	A	KIF21B	c.1102C>T	NM_001252102.2	NP_001239031.1:p.(Arg368Cys)	NC_000001.10:g.200972824G>A	VUS	1 lab	2d9d8eaba5
16:16308201 ABCC6 G>A	16	16308201	16308201	G	A	ABCC6	c.580C>T	NM_001171.6	NP_001162.5:p.(Pro194Ser)	NC_000016.9:g.16308201G>A	(Likely) benign	1 lab	2d9d9393db
18:42531572 SETBP1 C>T	18	42531572	42531572	C	T	SETBP1	c.2267C>T	NM_015559.3	NP_056374.2:p.(Pro756Leu)	NC_000018.9:g.42531572C>T	VUS	1 lab	2da274c08d
X:74272301 ABCB7 CA>C	X	74272301	74272320	CA	C	ABCB7	c.*903del	NM_001271696.3	NP_001258625.1:p.?	NC_000023.10:g.74272320del	(Likely) benign	1 lab	2da3d2b658
14:105418303 AHNAK2 C>T	14	105418303	105418303	C	T	AHNAK2	c.3485G>A	NM_138420.4	NP_612429.2:p.(Arg1162Lys)	NC_000014.8:g.105418303C>T	(Likely) benign	1 lab	2da879f813
8:144995723 PLEC C>T	8	144995723	144995723	C	T	PLEC	c.8266G>A	NM_201384.3	NP_958786.1:p.(Glu2756Lys)	NC_000008.10:g.144995723C>T	VUS	1 lab	2da9408585
11:57367586 SERPING1 A>C	11	57367586	57367586	A	C	SERPING1	c.286A>C	NM_000062.3	NP_000053.2:p.(Thr96Pro)	NC_000011.9:g.57367586A>C	(Likely) benign	1 lab	2daa6b5e01
1:3786250 DFFB C>T	1	3786250	3786250	C	T	DFFB	c.592C>T	NM_004402.4	NP_004393.1:p.(Arg198Trp)	NC_000001.10:g.3786250C>T	VUS	1 lab	2daa6e8a88
1:31837000 ZCCHC17 A>G	1	31837000	31837000	A	G	ZCCHC17	c.686A>G	NM_016505.4	NP_057589.2:p.(Lys229Arg)	NC_000001.10:g.31837000A>G	VUS	1 lab	2dabfa1bf1
2:113308466 POLR1B G>A	2	113308466	113308466	G	A	POLR1B	c.649G>A	NM_019014.6	NP_061887.2:p.(Glu217Lys)	NC_000002.11:g.113308466G>A	(Likely) benign	1 lab	2dacb7d3b6
11:66468223 SPTBN2 C>T	11	66468223	66468223	C	T	SPTBN2	c.3347G>A	NM_006946.4	NP_008877.2:p.(Arg1116Gln)	NC_000011.9:g.66468223C>T	(Likely) benign	1 lab	2dacd1046b
6:73905115 KCNQ5 T>C	6	73905115	73905115	T	C	KCNQ5	c.2777T>C	NM_019842.4	NP_062816.2:p.(Leu926Ser)	NC_000006.11:g.73905115T>C	VUS	1 lab	2dad254574
6:26093180 HFE T>C	6	26093180	26093180	T	C	HFE	c.884T>C	NM_000410.4	NP_000401.1:p.(Val295Ala)	NC_000006.11:g.26093180T>C	(Likely) benign	1 lab	2dadb4441c
1:17257080 CROCC C>T	1	17257080	17257080	C	T	CROCC	c.840C>T	NM_014675.5	NP_055490.4:p.(Arg280=)	NC_000001.10:g.17257080C>T	VUS	1 lab	2dae31724f
X:140994535 MAGEC1 T>C	X	140994535	140994535	T	C	MAGEC1	c.1345T>C	NM_005462.5	NP_005453.2:p.(Ser449Pro)	NC_000023.10:g.140994535T>C	(Likely) benign	1 lab	2dae54cb28
2:132021517 POTEE C>CA	2	132021517	132021518	C	CA	POTEE	c.2490dup	NM_001083538.3	NP_001077007.1:p.(Ala831SerfsTer27)	NC_000002.11:g.132021518dup	VUS	1 lab	2daeddbfda
4:88537306 DSPP TAGCAGCGAC>T	4	88537306	88537332	TAGCAGCGAC	T	DSPP	c.3510_3518del	NM_014208.3	NP_055023.2:p.(Asp1176_Ser1178del)	NC_000004.11:g.88537324_88537332del	(Likely) benign	1 lab	2dafae1d5a
12:5020842 KCNA1 G>T	12	5020842	5020842	G	T	KCNA1	c.298G>T	NM_000217.3	NP_000208.2:p.(Gly100Cys)	NC_000012.11:g.5020842G>T	VUS	1 lab	2db07dfb3f
17:21092183 DHRS7B C>G	17	21092183	21092183	C	G	DHRS7B	c.772+7C>G	NM_015510.5	NP_056325.2:p.?	NC_000017.10:g.21092183C>G	(Likely) benign	1 lab	2db132e51f
11:63990541 FERMT3 C>T	11	63990541	63990541	C	T	FERMT3	c.1692C>T	NM_031471.6	NP_113659.3:p.(Asp564=)	NC_000011.9:g.63990541C>T	(Likely) benign	1 lab	2db38ecd66
8:144990713 PLEC G>A	8	144990713	144990713	G	A	PLEC	c.13276C>T	NM_201384.3	NP_958786.1:p.(Arg4426Cys)	NC_000008.10:g.144990713G>A	VUS	1 lab	2db4b8e819
15:51773397 DMXL2 A>G	15	51773397	51773397	A	G	DMXL2	c.5906T>C	NM_001378457.1	NP_001365386.1:p.(Val1969Ala)	NC_000015.9:g.51773397A>G	(Likely) benign	1 lab	2db7715885
3:186978570 MASP1 C>T	3	186978570	186978570	C	T	MASP1	c.506G>A	NM_139125.4	NP_624302.1:p.(Arg169His)	NC_000003.11:g.186978570C>T	VUS	1 lab	2dbbd73b80
15:42169007 SPTBN5 GTGTGTGCAGCTGGGTGCTGGCTC>G	15	42169007	42169032	GTGTGTGCAGCTGGGTGCTGGCTC	G	SPTBN5	c.3828_3850del	NM_016642.4	NP_057726.4:p.(Gln1276HisfsTer21)	NC_000015.9:g.42169010_42169032del	VUS	1 lab	2dbbefd32e
2:132021845 POTEE C>G	2	132021845	132021845	C	G	POTEE	c.2817C>G	NM_001083538.3	NP_001077007.1:p.(Ser939Arg)	NC_000002.11:g.132021845C>G	VUS	1 lab	2dbed5419c
11:124551363 SPA17 C>T	11	124551363	124551363	C	T	SPA17	c.225+8C>T	NM_017425.4	NP_059121.1:p.?	NC_000011.9:g.124551363C>T	(Likely) benign	1 lab	2dc137c74a
17:36342577 TBC1D3G T>C	17	36342577	36342577	T	C	TBC1D3G	c.546+7A>G	NM_001291462.2	NP_001278391.1:p.?	NC_000017.10:g.36342577T>C	VUS	1 lab	2dc1727f7a
2:170113655 LRP2 T>C	2	170113655	170113655	T	C	LRP2	c.2618A>G	NM_004525.3	NP_004516.2:p.(Asn873Ser)	NC_000002.11:g.170113655T>C	VUS	1 lab	2dc1c33b89
17:79479252 ACTG1 A>C	17	79479252	79479252	A	C	ACTG1	c.123+6T>G	NM_001614.5	NP_001605.1:p.?	NC_000017.10:g.79479252A>C	(Likely) benign	1 lab	2dc1ce94bd
22:42607158 TCF20 A>AT	22	42607158	42607159	A	AT	TCF20	c.4153dup	NM_001378418.1	NP_001365347.1:p.(Ile1385AsnfsTer10)	NC_000022.10:g.42607159dup	(Likely) pathogenic	1 lab	2dc22c09b4
6:170160738 ERMARD A>G	6	170160738	170160738	A	G	ERMARD	c.743A>G	NM_018341.3	NP_060811.1:p.(Asp248Gly)	NC_000006.11:g.170160738A>G	(Likely) benign	1 lab	2dc2b2d8b5
20:61458627 COL9A3 G>A	20	61458627	61458627	G	A	COL9A3	c.827G>A	NM_001853.4	NP_001844.3:p.(Arg276His)	NC_000020.10:g.61458627G>A	VUS	1 lab	2dc2ed34c6
5:60628200 ZSWIM6 C>G	5	60628200	60628200	C	G	ZSWIM6	c.101C>G	NM_020928.2	NP_065979.1:p.(Ala34Gly)	NC_000005.9:g.60628200C>G	VUS	1 lab	2dc496ba2f
6:31961619 C4B_2 GC>G	6	31961619	31961622	GC	G	C4B_2	c.2381+20del	NM_001242823.2	NP_001229752.1:p.?	NC_000006.11:g.31961622del	(Likely) benign	1 lab	1d03c8ae48
15:62942342 TLN2 G>A	15	62942342	62942342	G	A	TLN2	c.196G>A	NM_015059.3	NP_055874.2:p.(Ala66Thr)	NC_000015.9:g.62942342G>A	VUS	1 lab	2dc51e7886
16:72822280 ZFHX3 G>A	16	72822280	72822280	G	A	ZFHX3	c.9895C>T	NM_006885.4	NP_008816.3:p.(Pro3299Ser)	NC_000016.9:g.72822280G>A	VUS	1 lab	2dc53283e8
12:112919871 PTPN11 C>T	12	112919871	112919871	C	T	PTPN11	c.1093-7C>T	NM_002834.5	NP_002825.3:p.?	NC_000012.11:g.112919871C>T	(Likely) benign	1 lab	2dc6b6e56d
21:34925705 SON A>G	21	34925705	34925705	A	G	SON	c.4168A>G	NM_138927.4	NP_620305.3:p.(Thr1390Ala)	NC_000021.8:g.34925705A>G	(Likely) benign	1 lab	2dc77c174f
12:7842749 GDF3 G>A	12	7842749	7842749	G	A	GDF3	c.820C>T	NM_020634.3	NP_065685.1:p.(Arg274Trp)	NC_000012.11:g.7842749G>A	(Likely) benign	1 lab	2dc8af262f
17:73569631 LLGL2 G>A	17	73569631	73569631	G	A	LLGL2	c.2795G>A	NM_001031803.2	NP_001026973.1:p.(Arg932Gln)	NC_000017.10:g.73569631G>A	(Likely) benign	1 lab	2dc8bbb3a9
5:42695096 GHR A>C	5	42695096	42695096	A	C	GHR	c.344A>C	NM_000163.5	NP_000154.1:p.(Asn115Thr)	NC_000005.9:g.42695096A>C	(Likely) pathogenic	1 lab	2dc92d4d41
6:152717943 SYNE1 T>A	6	152717943	152717943	T	A	SYNE1	c.7523A>T	NM_182961.4	NP_892006.3:p.(Gln2508Leu)	NC_000006.11:g.152717943T>A	VUS	1 lab	2dcaf37ebb
14:92491771 TRIP11 A>T	14	92491771	92491771	A	T	TRIP11	c.202-7T>A	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92491771A>T	(Likely) benign	1 lab	2dcb1ddd87
16:2133777 TSC2 C>T	16	2133777	2133777	C	T	TSC2	c.3965C>T	NM_000548.5	NP_000539.2:p.(Ala1322Val)	NC_000016.9:g.2133777C>T	VUS	1 lab	2e261e3037
20:10622517 JAG1 T>C	20	10622517	10622517	T	C	JAG1	c.2596A>G	NM_000214.3	NP_000205.1:p.(Met866Val)	NC_000020.10:g.10622517T>C	(Likely) benign	1 lab	1d03e6ab1a
15:91423349 FURIN C>T	15	91423349	91423349	C	T	FURIN	c.1402C>T	NM_002569.4	NP_002560.1:p.(Arg468Trp)	NC_000015.9:g.91423349C>T	VUS	1 lab	2dcbb8d93c
5:149754229 TCOF1 C>T	5	149754229	149754229	C	T	TCOF1	c.1133C>T	NM_001371623.1	NP_001358552.1:p.(Ala378Val)	NC_000005.9:g.149754229C>T	(Likely) benign	1 lab	2dcdb469d9
18:67844057 RTTN C>T	18	67844057	67844057	C	T	RTTN	c.1330G>A	NM_173630.4	NP_775901.3:p.(Gly444Arg)	NC_000018.9:g.67844057C>T	(Likely) benign	1 lab	2dcfd5fd02
1:7811358 CAMTA1 G>T	1	7811358	7811358	G	T	CAMTA1	c.4789G>T	NM_015215.4	NP_056030.1:p.(Ala1597Ser)	NC_000001.10:g.7811358G>T	VUS	1 lab	2dd0704de6
17:56389364 TSPOAP1 G>A	17	56389364	56389364	G	A	TSPOAP1	c.2818C>T	NM_004758.4	NP_004749.2:p.(Pro940Ser)	NC_000017.10:g.56389364G>A	(Likely) benign	1 lab	2dd08864f1
4:6293057 WFS1 G>A	4	6293057	6293057	G	A	WFS1	c.594G>A	NM_006005.3	NP_005996.2:p.(Ala198=)	NC_000004.11:g.6293057G>A	(Likely) benign	1 lab	2dd195ed8f
21:35279677 ATP5PO C>T	21	35279677	35279677	C	T	ATP5PO	c.409G>A	NM_001697.3	NP_001688.1:p.(Gly137Arg)	NC_000021.8:g.35279677C>T	VUS	1 lab	2dd2e395df
7:11468644 THSD7A C>T	7	11468644	11468644	C	T	THSD7A	c.3173G>A	NM_015204.3	NP_056019.1:p.(Arg1058His)	NC_000007.13:g.11468644C>T	VUS	1 lab	2dd310f9c7
3:169820408 PHC3 T>C	3	169820408	169820408	T	C	PHC3	c.2692A>G	NM_024947.4	NP_079223.3:p.(Ser898Gly)	NC_000003.11:g.169820408T>C	(Likely) benign	1 lab	2dd4338e8e
X:117758627 DOCK11 T>C	X	117758627	117758627	T	C	DOCK11	c.3588+9T>C	NM_144658.4	NP_653259.3:p.?	NC_000023.10:g.117758627T>C	(Likely) benign	1 lab	2dd48fa42a
X:27765443 DCAF8L2 AG>A	X	27765443	27765445	AG	A	DCAF8L2	c.433del	NM_001353450.2	NP_001340379.1:p.(Glu145LysfsTer21)	NC_000023.10:g.27765445del	(Likely) benign	1 lab	2dd50a39ab
22:37334352 CSF2RB G>T	22	37334352	37334352	G	T	CSF2RB	c.2502G>T	NM_000395.3	NP_000386.1:p.(Ser834=)	NC_000022.10:g.37334352G>T	(Likely) benign	1 lab	2dd5e76fef
17:78064113 CCDC40 A>C	17	78064113	78064113	A	C	CCDC40	c.2832+430A>C	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064113A>C	(Likely) benign	1 lab	2dd8fd3549
3:133666199 SLCO2A1 C>T	3	133666199	133666199	C	T	SLCO2A1	c.1196G>A	NM_005630.3	NP_005621.2:p.(Arg399His)	NC_000003.11:g.133666199C>T	VUS	1 lab	2dd927f7cb
16:1250410 CACNA1H G>A	16	1250410	1250410	G	A	CACNA1H	c.958G>A	NM_021098.3	NP_066921.2:p.(Glu320Lys)	NC_000016.9:g.1250410G>A	(Likely) benign	1 lab	2dd9bd3467
X:153070097 PDZD4 G>C	X	153070097	153070097	G	C	PDZD4	c.1039C>G	NM_001303512.2	NP_001290441.1:p.(Leu347Val)	NC_000023.10:g.153070097G>C	(Likely) benign	1 lab	2dda30918e
6:41129219 TREM2 C>G	6	41129219	41129219	C	G	TREM2	c.173G>C	NM_018965.4	NP_061838.1:p.(Gly58Ala)	NC_000006.11:g.41129219C>G	(Likely) benign	1 lab	2ddb2f3e82
16:67237620 ELMO3 GC>G	16	67237620	67237621	GC	G	ELMO3	c.2004del	NM_024712.5	NP_078988.3:p.(Ser668ArgfsTer12)	NC_000016.9:g.67237621del	VUS	1 lab	2ddb76ca97
9:35068002 VCP T>C	9	35068002	35068002	T	C	VCP	c.188A>G	NM_007126.5	NP_009057.1:p.(Lys63Arg)	NC_000009.11:g.35068002T>C	VUS	1 lab	2ddd292975
16:28877615 SH2B1 G>A	16	28877615	28877615	G	A	SH2B1	c.200G>A	NM_001387430.1	NP_001374359.1:p.(Arg67His)	NC_000016.9:g.28877615G>A	VUS	1 lab	2dde143325
1:120307101 HMGCS2 T>C	1	120307101	120307101	T	C	HMGCS2	c.253A>G	NM_005518.4	NP_005509.1:p.(Thr85Ala)	NC_000001.10:g.120307101T>C	VUS	1 lab	2de1203f86
7:42229606 GLI3 C>CAA	7	42229606	42229608	C	CAA	GLI3	c.124+33122_124+33123insTT	NM_000168.6	NP_000159.3:p.?	NC_000007.13:g.42229607_42229608insAA	(Likely) benign	1 lab	2de3b0a03d
X:99597068 PCDH19 G>T	X	99597068	99597068	G	T	PCDH19	c.2681C>A	NM_001184880.2	NP_001171809.1:p.(Ser894Tyr)	NC_000023.10:g.99597068G>T	VUS	1 lab	2de6eb2875
11:17424280 ABCC8 T>A	11	17424280	17424280	T	A	ABCC8	c.3578A>T	NM_000352.6	NP_000343.2:p.(Asp1193Val)	NC_000011.9:g.17424280T>A	(Likely) pathogenic	1 lab	2de966f0d6
15:89417227 ACAN G>A	15	89417227	89417227	G	A	ACAN	c.7602G>A	NM_001369268.1	NP_001356197.1:p.(Trp2534Ter)	NC_000015.9:g.89417227G>A	(Likely) pathogenic	1 lab	2dea03df77
7:158715071 DYNC2I1 G>A	7	158715071	158715071	G	A	DYNC2I1	c.1925G>A	NM_018051.5	NP_060521.4:p.(Arg642Gln)	NC_000007.13:g.158715071G>A	VUS	1 lab	2debdc18f6
4:1968184 NSD2 T>C	4	1968184	1968184	T	C	NSD2	c.3372+5306T>C	NM_001042424.3	NP_001035889.1:p.?	NC_000004.11:g.1968184T>C	(Likely) benign	1 lab	2dece8aa02
19:48176826 BICRA G>T	19	48176826	48176826	G	T	BICRA	c.-5-1G>T	NM_015711.3	NP_056526.3:p.?	NC_000019.9:g.48176826G>T	VUS	1 lab	1cb0d73200
15:48539556 SLC12A1 A>G	15	48539556	48539556	A	G	SLC12A1	c.1583A>G	NM_000338.3	NP_000329.2:p.(Tyr528Cys)	NC_000015.9:g.48539556A>G	VUS	1 lab	2df6941b8e
12:31256263 DDX11 G>A	12	31256263	31256263	G	A	DDX11	c.2470G>A	NM_030653.4	NP_085911.2:p.(Gly824Ser)	NC_000012.11:g.31256263G>A	VUS	1 lab	2df6fd9814
5:112175601 APC A>G	5	112175601	112175601	A	G	APC	c.4310A>G	NM_000038.6	NP_000029.2:p.(Lys1437Arg)	NC_000005.9:g.112175601A>G	VUS	1 lab	2df70015b6
14:20859914 TEP1 A>T	14	20859914	20859914	A	T	TEP1	c.1941T>A	NM_007110.5	NP_009041.2:p.(Tyr647Ter)	NC_000014.8:g.20859914A>T	VUS	1 lab	2df942f8f5
1:11900226 CLCN6 C>A	1	11900226	11900226	C	A	CLCN6	c.2556C>A	NM_001286.5	NP_001277.2:p.(Asn852Lys)	NC_000001.10:g.11900226C>A	VUS	1 lab	2dfabf834e
12:112884090 PTPN11 C>T	12	112884090	112884090	C	T	PTPN11	c.25C>T	NM_002834.5	NP_002825.3:p.(Pro9Ser)	NC_000012.11:g.112884090C>T	VUS	1 lab	2dfad8d00f
17:36064997 HNF1B G>C	17	36064997	36064997	G	C	HNF1B	c.1266C>G	NM_000458.4	NP_000449.1:p.(Leu422=)	NC_000017.10:g.36064997G>C	(Likely) benign	1 lab	2dfb251387
2:114212360 ZNG1B G>A	2	114212360	114212360	G	A	ZNG1B	c.528+5G>A	NM_172003.3	NP_742000.1:p.?	NC_000002.11:g.114212360G>A	VUS	1 lab	2dfb2dd693
16:88893182 GALNS G>A	16	88893182	88893182	G	A	GALNS	c.1067C>T	NM_000512.5	NP_000503.1:p.(Thr356Met)	NC_000016.9:g.88893182G>A	(Likely) benign	1 lab	2dfc2e47d4
6:24784712 GMNN G>A	6	24784712	24784712	G	A	GMNN	c.398G>A	NM_015895.5	NP_056979.1:p.(Arg133His)	NC_000006.11:g.24784712G>A	(Likely) benign	1 lab	2dfdc05d88
X:31747823 DMD C>A	X	31747823	31747823	C	A	DMD	c.7585G>T	NM_004006.3	NP_003997.2:p.(Glu2529Ter)	NC_000023.10:g.31747823C>A	(Likely) pathogenic	1 lab	2e00724003
1:6529292 PLEKHG5 G>A	1	6529292	6529292	G	A	PLEKHG5	c.2059C>T	NM_020631.6	NP_065682.2:p.(Gln687Ter)	NC_000001.10:g.6529292G>A	(Likely) pathogenic	1 lab	2e0167a0ad
16:48174765 ABCC12 C>A	16	48174765	48174765	C	A	ABCC12	c.490G>T	NM_001393797.1	NP_001380726.1:p.(Gly164Ter)	NC_000016.9:g.48174765C>A	VUS	1 lab	2e025678bd
12:49442908 KMT2D A>C	12	49442908	49442908	A	C	KMT2D	c.4000T>G	NM_003482.4	NP_003473.3:p.(Ser1334Ala)	NC_000012.11:g.49442908A>C	VUS	1 lab	2e03d4ebce
14:34269802 NPAS3 CGGCGGG>C	14	34269802	34269825	CGGCGGG	C	NPAS3	c.2307_2312del	NM_001164749.2	NP_001158221.1:p.(Gly771_Gly772del)	NC_000014.8:g.34269820_34269825del	(Likely) benign	1 lab	2e070abf45
11:107312353 CWF19L2 T>TA	11	107312353	107312362	T	TA	CWF19L2	c.451-6dup	NM_152434.3	NP_689647.2:p.?	NC_000011.9:g.107312362dup	(Likely) benign	1 lab	2e08cebccc
16:53726220 RPGRIP1L C>T	16	53726220	53726220	C	T	RPGRIP1L	c.287G>A	NM_015272.5	NP_056087.2:p.(Gly96Asp)	NC_000016.9:g.53726220C>T	VUS	1 lab	2e0920eae5
4:47405355 GABRB1 A>G	4	47405355	47405355	A	G	GABRB1	c.565A>G	NM_000812.4	NP_000803.2:p.(Ile189Val)	NC_000004.11:g.47405355A>G	VUS	1 lab	2e0b0d6565
1:22159002 HSPG2 TC>T	1	22159002	22159008	TC	T	HSPG2	c.11192del	NM_005529.7	NP_005520.4:p.(Gly3731GlufsTer30)	NC_000001.10:g.22159008del	VUS	1 lab	2e0c5a256c
7:74211730 GTF2IRD2 G>C	7	74211730	74211730	G	C	GTF2IRD2	c.2121C>G	NM_173537.5	NP_775808.4:p.(Tyr707Ter)	NC_000007.13:g.74211730G>C	(Likely) benign	1 lab	2e0dafb91f
8:144991003 PLEC C>T	8	144991003	144991003	C	T	PLEC	c.13067G>A	NM_000445.5	NP_000436.2:p.(Arg4356His)	NC_000008.10:g.144991003C>T	VUS	1 lab	1cb434b02e
1:247615127 OR2B11 G>A	1	247615127	247615127	G	A	OR2B11	c.158C>T	NM_001004492.2	NP_001004492.1:p.(Ser53Phe)	NC_000001.10:g.247615127G>A	(Likely) benign	1 lab	2e0f20d0a7
20:60884417 LAMA5 C>T	20	60884417	60884417	C	T	LAMA5	c.11063G>A	NM_005560.6	NP_005551.3:p.(Gly3688Glu)	NC_000020.10:g.60884417C>T	VUS	1 lab	2e0fe56bfb
X:107084589 MID2 C>A	X	107084589	107084589	C	A	MID2	c.694C>A	NM_012216.4	NP_036348.2:p.(Leu232Met)	NC_000023.10:g.107084589C>A	VUS	1 lab	1cb5d85b36
1:92711222 C1orf146 C>A	1	92711222	92711222	C	A	C1orf146	c.534C>A	NM_001012425.2	NP_001012425.1:p.(Asn178Lys)	NC_000001.10:g.92711222C>A	VUS	1 lab	2e110758ee
3:159998492 IFT80 C>T	3	159998492	159998492	C	T	IFT80	c.1627G>A	NM_020800.3	NP_065851.1:p.(Asp543Asn)	NC_000003.11:g.159998492C>T	VUS	1 lab	2e12c3f80f
X:54786364 ITIH6 T>C	X	54786364	54786364	T	C	ITIH6	c.904-4A>G	NM_198510.3	NP_940912.1:p.?	NC_000023.10:g.54786364T>C	(Likely) benign	1 lab	2e13cc177a
12:115112140 TBX3 T>C	12	115112140	115112140	T	C	TBX3	c.1540A>G	NM_005996.4	NP_005987.3:p.(Met514Val)	NC_000012.11:g.115112140T>C	(Likely) benign	1 lab	2e13f70093
1:220275460 IARS2 C>CT	1	220275460	220275468	C	CT	IARS2	c.551-3dup	NM_018060.4	NP_060530.3:p.?	NC_000001.10:g.220275468dup	VUS	1 lab	2e15932e0b
16:2374440 ABCA3 G>T	16	2374440	2374440	G	T	ABCA3	c.412C>A	NM_001089.3	NP_001080.2:p.(Pro138Thr)	NC_000016.9:g.2374440G>T	(Likely) benign	1 lab	2e15b0be8c
6:111632320 REV3L C>T	6	111632320	111632320	C	T	REV3L	c.8747G>A	NM_001372078.1	NP_001359007.1:p.(Ser2916Asn)	NC_000006.11:g.111632320C>T	VUS	1 lab	2e27bc7537
22:25023406 GGT1 G>A	22	25023406	25023406	G	A	GGT1	c.1028G>A	NM_001288833.2	NP_001275762.1:p.(Arg343His)	NC_000022.10:g.25023406G>A	(Likely) benign	1 lab	2e28586fe7
12:66232368 HMGA2 T>C	12	66232368	66232368	T	C	HMGA2	c.249+19T>C	NM_003483.6	NP_003474.1:p.?	NC_000012.11:g.66232368T>C	(Likely) benign	1 lab	2e28f168a9
3:9984825 CRELD1 T>C	3	9984825	9984825	T	C	CRELD1	c.882T>C	NM_001077415.3	NP_001070883.2:p.(Pro294=)	NC_000003.11:g.9984825T>C	(Likely) benign	1 lab	2e2aeb2403
11:70805692 SHANK2 T>C	11	70805692	70805692	T	C	SHANK2	c.635A>G	NM_012309.5	NP_036441.2:p.(Glu212Gly)	NC_000011.9:g.70805692T>C	VUS	1 lab	2e2af9f010
16:70512306 FCSK G>A	16	70512306	70512306	G	A	FCSK	c.2773G>A	NM_145059.3	NP_659496.2:p.(Asp925Asn)	NC_000016.9:g.70512306G>A	VUS	1 lab	2e2cbd8804
2:220422963 OBSL1 C>T	2	220422963	220422963	C	T	OBSL1	c.3445G>A	NM_015311.3	NP_056126.1:p.(Gly1149Arg)	NC_000002.11:g.220422963C>T	VUS	1 lab	2e2d1766a7
2:179411411 TTN A>C	2	179411411	179411411	A	C	TTN	c.94744T>G	NM_001267550.2	NP_001254479.2:p.(Phe31582Val)	NC_000002.11:g.179411411A>C	VUS	1 lab	2e2e25c7ad
2:196729002 DNAH7 G>C	2	196729002	196729002	G	C	DNAH7	c.7377C>G	NM_018897.3	NP_061720.2:p.(Asn2459Lys)	NC_000002.11:g.196729002G>C	(Likely) benign	1 lab	2e2f64116e
X:86877221 KLHL4 T>C	X	86877221	86877221	T	C	KLHL4	c.935T>C	NM_019117.5	NP_061990.2:p.(Ile312Thr)	NC_000023.10:g.86877221T>C	VUS	1 lab	2e2f6801d0
2:152499132 NEB T>A	2	152499132	152499132	T	A	NEB	c.8329A>T	NM_001164508.2	NP_001157980.2:p.(Ile2777Phe)	NC_000002.11:g.152499132T>A	VUS	1 lab	2e32549ba2
4:123128423 BLTP1 A>C	4	123128423	123128423	A	C	BLTP1	c.1654+3A>C	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123128423A>C	(Likely) pathogenic	1 lab	2e33e29104
2:152500449 NEB C>G	2	152500449	152500449	C	G	NEB	c.7839G>C	NM_001271208.2	NP_001258137.2:p.(Lys2613Asn)	NC_000002.11:g.152500449C>G	(Likely) benign	1 lab	1cb767e648
2:80874764 CTNNA2 G>A	2	80874764	80874764	G	A	CTNNA2	c.2629G>A	NM_001282597.3	NP_001269526.1:p.(Val877Ile)	NC_000002.11:g.80874764G>A	VUS	1 lab	2e366c29b7
16:88782342 PIEZO1 C>T	16	88782342	88782342	C	T	PIEZO1	c.7315G>A	NM_001142864.4	NP_001136336.2:p.(Gly2439Ser)	NC_000016.9:g.88782342C>T	VUS	1 lab	2e367b79e0
9:79966307 VPS13A C>T	9	79966307	79966307	C	T	VPS13A	c.7364C>T	NM_033305.3	NP_150648.2:p.(Ser2455Phe)	NC_000009.11:g.79966307C>T	VUS	1 lab	2e37a1b29f
1:185959434 HMCN1 G>A	1	185959434	185959434	G	A	HMCN1	c.3236G>A	NM_031935.3	NP_114141.2:p.(Arg1079Gln)	NC_000001.10:g.185959434G>A	(Likely) benign	1 lab	2e3b9f47ef
3:183963144 ALG3 T>C	3	183963144	183963144	T	C	ALG3	c.447A>G	NM_005787.6	NP_005778.1:p.(Val149=)	NC_000003.11:g.183963144T>C	(Likely) benign	1 lab	2e3c0c8a08
7:43503361 HECW1 G>T	7	43503361	43503361	G	T	HECW1	c.2754G>T	NM_015052.5	NP_055867.3:p.(Gly918=)	NC_000007.13:g.43503361G>T	VUS	1 lab	2e3d2f44d7
X:38150700 RPGR T>C	X	38150700	38150700	T	C	RPGR	c.1452A>G	NM_001034853.2	NP_001030025.1:p.(Ile484Met)	NC_000023.10:g.38150700T>C	(Likely) benign	1 lab	2e3de0eaca
6:43018756 CUL7 C>T	6	43018756	43018756	C	T	CUL7	c.1183G>A	NM_014780.5	NP_055595.2:p.(Gly395Arg)	NC_000006.11:g.43018756C>T	VUS	1 lab	2e3e42af7f
11:639943 DRD4 G>A	11	639943	639943	G	A	DRD4	c.694G>A	NM_000797.4	NP_000788.2:p.(Gly232Ser)	NC_000011.9:g.639943G>A	(Likely) benign	1 lab	2e3ef9d0af
6:51937005 PKHD1 T>A	6	51937005	51937005	T	A	PKHD1	c.528-18A>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51937005T>A	(Likely) benign	1 lab	2e3fe63a92
17:3427643 TRPV3 A>G	17	3427643	3427643	A	G	TRPV3	c.1592T>C	NM_145068.4	NP_659505.1:p.(Val531Ala)	NC_000017.10:g.3427643A>G	(Likely) benign	1 lab	2e41336e1c
5:171484385 STK10 G>A	5	171484385	171484385	G	A	STK10	c.2305C>T	NM_005990.4	NP_005981.3:p.(Gln769Ter)	NC_000005.9:g.171484385G>A	VUS	1 lab	2e437f6b4f
17:15942743 NCOR1 G>A	17	15942743	15942743	G	A	NCOR1	c.6955+4C>T	NM_006311.4	NP_006302.2:p.?	NC_000017.10:g.15942743G>A	VUS	1 lab	2e43c86965
21:47746472 PCNT CT>C	21	47746472	47746473	CT	C	PCNT	c.237del	NM_006031.6	NP_006022.3:p.(Asp80MetfsTer173)	NC_000021.8:g.47746473del	VUS	1 lab	2e43e005f2
12:88496643 CEP290 T>C	12	88496643	88496643	T	C	CEP290	c.2963A>G	NM_025114.4	NP_079390.3:p.(Gln988Arg)	NC_000012.11:g.88496643T>C	VUS	1 lab	2e45982af8
17:648757 GEMIN4 A>C	17	648757	648757	A	C	GEMIN4	c.2526T>G	NM_015721.3	NP_056536.2:p.(Asn842Lys)	NC_000017.10:g.648757A>C	VUS	1 lab	2e46c5b108
11:47434985 SLC39A13 C>T	11	47434985	47434985	C	T	SLC39A13	c.572C>T	NM_001128225.3	NP_001121697.2:p.(Ala191Val)	NC_000011.9:g.47434985C>T	(Likely) benign	1 lab	2e48cbf1fd
8:42958692 POMK A>G	8	42958692	42958692	A	G	POMK	c.1A>G	NM_032237.5	NP_115613.1:p.(Met1?)	NC_000008.10:g.42958692A>G	VUS	1 lab	2e4a571a20
15:90190246 KIF7 G>A	15	90190246	90190246	G	A	KIF7	c.1603C>T	NM_198525.3	NP_940927.2:p.(Arg535Trp)	NC_000015.9:g.90190246G>A	VUS	1 lab	2e4b638f2a
11:103151083 DYNC2H1 C>T	11	103151083	103151083	C	T	DYNC2H1	c.10702C>T	NM_001377.3	NP_001368.2:p.(Gln3568Ter)	NC_000011.9:g.103151083C>T	(Likely) pathogenic	1 lab	2e4c1d7b72
11:103124089 DYNC2H1 G>A	11	103124089	103124089	G	A	DYNC2H1	c.10118G>A	NM_001377.3	NP_001368.2:p.(Arg3373Lys)	NC_000011.9:g.103124089G>A	VUS	1 lab	2e4d886189
11:116717136 SIK3 G>A	11	116717136	116717136	G	A	SIK3	c.4086C>T	NM_001366686.3	NP_001353615.1:p.(Phe1362=)	NC_000011.9:g.116717136G>A	(Likely) benign	1 lab	2e4dbc8d47
X:3242785 MXRA5 G>T	X	3242785	3242785	G	T	MXRA5	c.941C>A	NM_015419.4	NP_056234.2:p.(Pro314His)	NC_000023.10:g.3242785G>T	(Likely) benign	1 lab	2e4dc6b21c
1:10529238 DFFA ATTG>A	1	10529238	10529245	ATTG	A	DFFA	c.291_293del	NM_004401.3	NP_004392.1:p.(Asn98del)	NC_000001.10:g.10529243_10529245del	VUS	1 lab	2e4e84b658
4:128807837 PLK4 T>C	4	128807837	128807837	T	C	PLK4	c.1312T>C	NM_014264.5	NP_055079.3:p.(Ser438Pro)	NC_000004.11:g.128807837T>C	(Likely) benign	1 lab	2e5063b00e
6:33405509 SYNGAP1 C>T	6	33405509	33405509	C	T	SYNGAP1	c.827C>T	NM_006772.3	NP_006763.2:p.(Pro276Leu)	NC_000006.11:g.33405509C>T	VUS	1 lab	2e5102fb67
8:145537233 HSF1 C>T	8	145537233	145537233	C	T	HSF1	c.1179C>T	NM_005526.4	NP_005517.1:p.(Ser393=)	NC_000008.10:g.145537233C>T	VUS	1 lab	2e525b818b
1:27089737 ARID1A C>T	1	27089737	27089737	C	T	ARID1A	c.2693C>T	NM_006015.6	NP_006006.3:p.(Ala898Val)	NC_000001.10:g.27089737C>T	VUS	1 lab	2e52a2d686
9:35800484 NPR2 A>G	9	35800484	35800484	A	G	NPR2	c.1218+4A>G	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800484A>G	VUS	1 lab	2e52a6ebab
17:73987676 TEN1 C>A	17	73987676	73987676	C	A	TEN1	c.222C>A	NM_001113324.3	NP_001106795.2:p.(Ile74=)	NC_000017.10:g.73987676C>A	(Likely) benign	1 lab	2e5389c4a4
3:55508601 WNT5A T>C	3	55508601	55508601	T	C	WNT5A	c.448A>G	NM_003392.7	NP_003383.4:p.(Met150Val)	NC_000003.11:g.55508601T>C	(Likely) benign	1 lab	2e54b97c51
15:51676014 GLDN A>G	15	51676014	51676014	A	G	GLDN	c.466A>G	NM_181789.4	NP_861454.2:p.(Asn156Asp)	NC_000015.9:g.51676014A>G	VUS	1 lab	2e550433bd
9:135946981 CEL T>G	9	135946981	135946981	T	G	CEL	c.2092T>G	NM_001807.6	NP_001798.3:p.(Ser698Ala)	NC_000009.11:g.135946981T>G	(Likely) benign	1 lab	2e55300f21
4:6302656 WFS1 C>A	4	6302656	6302656	C	A	WFS1	c.1134C>A	NM_006005.3	NP_005996.2:p.(Thr378=)	NC_000004.11:g.6302656C>A	(Likely) benign	1 lab	2e560d4465
11:2154357 IGF2 G>A	11	2154357	2154357	G	A	IGF2	c.403C>T	NM_000612.6	NP_000603.1:p.(Arg135Cys)	NC_000011.9:g.2154357G>A	VUS	1 lab	2e56ecde67
16:2169173 PKD1 T>C	16	2169173	2169173	T	C	PKD1	c.301A>G	NM_001009944.3	NP_001009944.3:p.(Asn101Asp)	NC_000016.9:g.2169173T>C	(Likely) pathogenic	1 lab	2e57472879
10:135122328 TUBGCP2 G>C	10	135122328	135122328	G	C	TUBGCP2	c.-41C>G	NM_006659.4	NP_006650.1:p.?	NC_000010.10:g.135122328G>C	VUS	1 lab	2e57dde298
17:1680571 SERPINF1 A>C	17	1680571	1680571	A	C	SERPINF1	c.1088A>C	NM_002615.7	NP_002606.3:p.(Glu363Ala)	NC_000017.10:g.1680571A>C	VUS	1 lab	2e5a294b2a
8:144997679 PLEC T>C	8	144997679	144997679	T	C	PLEC	c.6418A>G	NM_201384.3	NP_958786.1:p.(Lys2140Glu)	NC_000008.10:g.144997679T>C	VUS	1 lab	2e5d8b8cbf
12:49422606 KMT2D C>T	12	49422606	49422606	C	T	KMT2D	c.14382+5G>A	NM_003482.4	NP_003473.3:p.?	NC_000012.11:g.49422606C>T	(Likely) pathogenic	1 lab	2e5de106ba
9:130996307 DNM1 A>G	9	130996307	130996307	A	G	DNM1	c.1343A>G	NM_004408.4	NP_004399.2:p.(Gln448Arg)	NC_000009.11:g.130996307A>G	(Likely) benign	1 lab	2e5e4f1d78
22:41633943 CHADL G>T	22	41633943	41633943	G	T	CHADL	c.1133C>A	NM_138481.2	NP_612490.1:p.(Ala378Asp)	NC_000022.10:g.41633943G>T	VUS	1 lab	2e5fa06056
19:47259002 FKRP G>T	19	47259002	47259002	G	T	FKRP	c.295G>T	NM_024301.5	NP_077277.1:p.(Val99Leu)	NC_000019.9:g.47259002G>T	VUS	1 lab	2e6053a9ea
17:36104713 HNF1B C>T	17	36104713	36104713	C	T	HNF1B	c.163G>A	NM_000458.4	NP_000449.1:p.(Glu55Lys)	NC_000017.10:g.36104713C>T	(Likely) benign	1 lab	2e60853942
9:119028233 PAPPA A>T	9	119028233	119028233	A	T	PAPPA	c.2830A>T	NM_002581.5	NP_002572.2:p.(Ser944Cys)	NC_000009.11:g.119028233A>T	VUS	1 lab	2e60d7ad9d
11:61160745 TMEM216 T>C	11	61160745	61160745	T	C	TMEM216	c.77T>C	NM_001173990.3	NP_001167461.1:p.(Leu26Pro)	NC_000011.9:g.61160745T>C	VUS	1 lab	2e6160d0fe
5:140176038 PCDHA1 C>T	5	140176038	140176038	C	T	PCDHA1	c.2394+7769C>T	NM_018900.4	NP_061723.1:p.?	NC_000005.9:g.140176038C>T	VUS	1 lab	2e623fa5da
2:73718498 ALMS1 A>G	2	73718498	73718498	A	G	ALMS1	c.9412A>G	NM_001378454.1	NP_001365383.1:p.(Ile3138Val)	NC_000002.11:g.73718498A>G	(Likely) benign	1 lab	2e63e3f4c8
17:40453422 STAT5A C>A	17	40453422	40453422	C	A	STAT5A	c.1119C>A	NM_001288718.2	NP_001275647.1:p.(Ile373=)	NC_000017.10:g.40453422C>A	(Likely) benign	1 lab	2e642ace2e
15:42682308 CAPN3 C>T	15	42682308	42682308	C	T	CAPN3	c.945+14C>T	NM_000070.3	NP_000061.1:p.?	NC_000015.9:g.42682308C>T	(Likely) benign	1 lab	2e64c60575
9:73233784 TRPM3 T>C	9	73233784	73233784	T	C	TRPM3	c.2357A>G	NM_001366145.2	NP_001353074.1:p.(Lys786Arg)	NC_000009.11:g.73233784T>C	VUS	1 lab	2e659c61a3
4:123168297 BLTP1 C>CT	4	123168297	123168305	C	CT	BLTP1	c.5313-8dup	NM_001384125.1	NP_001371054.1:p.?	NC_000004.11:g.123168305dup	(Likely) benign	1 lab	2e677bc984
5:137727340 KDM3B C>G	5	137727340	137727340	C	G	KDM3B	c.2019C>G	NM_016604.4	NP_057688.3:p.(Ser673Arg)	NC_000005.9:g.137727340C>G	(Likely) benign	1 lab	2e690707ae
17:39779261 KRT17 A>G	17	39779261	39779261	A	G	KRT17	c.456T>C	NM_000422.3	NP_000413.1:p.(Asn152=)	NC_000017.10:g.39779261A>G	(Likely) benign	1 lab	1cb802205f
12:117693813 NOS1 C>T	12	117693813	117693813	C	T	NOS1	c.2532-2254G>A	NM_000620.5	NP_000611.1:p.?	NC_000012.11:g.117693813C>T	(Likely) benign	1 lab	2e6c3fb437
16:2011193 NDUFB10 A>G	16	2011193	2011193	A	G	NDUFB10	c.170A>G	NM_004548.3	NP_004539.1:p.(Tyr57Cys)	NC_000016.9:g.2011193A>G	VUS	1 lab	2e6cd8a984
19:42861036 MEGF8 G>A	19	42861036	42861036	G	A	MEGF8	c.4733G>A	NM_001271938.2	NP_001258867.1:p.(Arg1578His)	NC_000019.9:g.42861036G>A	VUS	1 lab	2e6cd96da6
10:8007365 TAF3 A>G	10	8007365	8007365	A	G	TAF3	c.1892A>G	NM_031923.4	NP_114129.1:p.(Asp631Gly)	NC_000010.10:g.8007365A>G	VUS	1 lab	2e6eaec835
2:179612075 TTN T>C	2	179612075	179612075	T	C	TTN	c.15052A>G	NM_133379.5	NP_596870.2:p.(Ile5018Val)	NC_000002.11:g.179612075T>C	VUS	1 lab	1cbe6bacf0
17:26862043 FOXN1 C>T	17	26862043	26862043	C	T	FOXN1	c.1454C>T	NM_001369369.1	NP_001356298.1:p.(Pro485Leu)	NC_000017.10:g.26862043C>T	VUS	1 lab	2e6f4acb74
19:3907777 ATCAY C>T	19	3907777	3907777	C	T	ATCAY	c.404C>T	NM_033064.5	NP_149053.1:p.(Ala135Val)	NC_000019.9:g.3907777C>T	VUS	1 lab	2eb34a457f
2:179560842 TTN T>G	2	179560842	179560842	T	G	TTN	c.30957A>C	NM_001267550.2	NP_001254479.2:p.(Glu10319Asp)	NC_000002.11:g.179560842T>G	(Likely) benign	1 lab	2e701de1cf
8:104898418 RIMS2 GTTGAGA>G	8	104898418	104898428	GTTGAGA	G	RIMS2	c.1728_1733del	NM_001348484.3	NP_001335413.1:p.(Ile577_Glu578del)	NC_000008.10:g.104898423_104898428del	VUS	1 lab	2e722bfb57
19:50316002 FUZ G>C	19	50316002	50316002	G	C	FUZ	c.112-9C>G	NM_025129.5	NP_079405.2:p.?	NC_000019.9:g.50316002G>C	(Likely) benign	1 lab	2e73c66134
13:23913843 SACS A>G	13	23913843	23913843	A	G	SACS	c.4172T>C	NM_014363.6	NP_055178.3:p.(Ile1391Thr)	NC_000013.10:g.23913843A>G	VUS	1 lab	2e7466fa0f
12:416838 KDM5A C>T	12	416838	416838	C	T	KDM5A	c.3712G>A	NM_001042603.3	NP_001036068.1:p.(Val1238Ile)	NC_000012.11:g.416838C>T	(Likely) benign	1 lab	2e751e3766
18:43460189 EPG5 C>CT	18	43460189	43460190	C	CT	EPG5	c.5519-2dup	NM_020964.3	NP_066015.2:p.?	NC_000018.9:g.43460190dup	VUS	1 lab	2e75c42f95
21:47754380 PCNT C>A	21	47754380	47754380	C	A	PCNT	c.337C>A	NM_006031.6	NP_006022.3:p.(Pro113Thr)	NC_000021.8:g.47754380C>A	(Likely) benign	1 lab	2e76d3f11b
15:67358541 SMAD3 G>T	15	67358541	67358541	G	T	SMAD3	c.49G>T	NM_005902.4	NP_005893.1:p.(Gly17Cys)	NC_000015.9:g.67358541G>T	VUS	1 lab	2e7708c33b
8:106431549 ZFPM2 A>G	8	106431549	106431549	A	G	ZFPM2	c.199+19A>G	NM_012082.4	NP_036214.2:p.?	NC_000008.10:g.106431549A>G	(Likely) benign	1 lab	1d097ce684
1:224341034 FBXO28 C>T	1	224341034	224341034	C	T	FBXO28	c.707C>T	NM_015176.4	NP_055991.1:p.(Pro236Leu)	NC_000001.10:g.224341034C>T	(Likely) benign	1 lab	2e7a8eee72
19:1457982 APC2 C>T	19	1457982	1457982	C	T	APC2	c.1226C>T	NM_005883.3	NP_005874.1:p.(Pro409Leu)	NC_000019.9:g.1457982C>T	VUS	1 lab	2e7ab9dd27
19:18900781 COMP G>A	19	18900781	18900781	G	A	COMP	c.360C>T	NM_000095.3	NP_000086.2:p.(Gly120=)	NC_000019.9:g.18900781G>A	(Likely) benign	1 lab	2e7d2321cc
12:493318 KDM5A G>C	12	493318	493318	G	C	KDM5A	c.245C>G	NM_001042603.3	NP_001036068.1:p.(Ala82Gly)	NC_000012.11:g.493318G>C	(Likely) benign	1 lab	2e7d348b51
8:145692476 KIFC2 C>T	8	145692476	145692476	C	T	KIFC2	c.313C>T	NM_001369769.2	NP_001356698.1:p.(Pro105Ser)	NC_000008.10:g.145692476C>T	(Likely) benign	1 lab	2e7e6801f3
4:96069996 BMPR1B T>C	4	96069996	96069996	T	C	BMPR1B	c.1174T>C	NM_001203.3	NP_001194.1:p.(Phe392Leu)	NC_000004.11:g.96069996T>C	VUS	1 lab	2e7e9b3a09
7:55980348 ZNF713 G>GT	7	55980348	55980354	G	GT	ZNF713	c.25dup	NM_182633.3	NP_872439.2:p.(Ser9PhefsTer13)	NC_000007.13:g.55980354dup	(Likely) benign	1 lab	2e7ee7837f
12:46245237 ARID2 G>T	12	46245237	46245237	G	T	ARID2	c.3331G>T	NM_152641.4	NP_689854.2:p.(Val1111Leu)	NC_000012.11:g.46245237G>T	(Likely) benign	1 lab	2e80385ab1
1:43892062 SZT2 G>A	1	43892062	43892062	G	A	SZT2	c.3067G>A	NM_001365999.1	NP_001352928.1:p.(Glu1023Lys)	NC_000001.10:g.43892062G>A	VUS	1 lab	2e808b088b
19:38933074 RYR1 C>T	19	38933074	38933074	C	T	RYR1	c.251C>T	NM_000540.3	NP_000531.2:p.(Thr84Met)	NC_000019.9:g.38933074C>T	VUS	1 lab	2e8223e225
15:48757812 FBN1 C>T	15	48757812	48757812	C	T	FBN1	c.4895G>A	NM_000138.4	NP_000129.3:p.(Arg1632His)	NC_000015.9:g.48757812C>T	VUS	1 lab	1d0a1372af
6:564158 EXOC2 C>T	6	564158	564158	C	T	EXOC2	c.1668-4G>A	NM_018303.6	NP_060773.3:p.?	NC_000006.11:g.564158C>T	(Likely) benign	1 lab	2e824cecef
7:148526829 EZH2 C>T	7	148526829	148526829	C	T	EZH2	c.475G>A	NM_004456.5	NP_004447.2:p.(Gly159Arg)	NC_000007.13:g.148526829C>T	(Likely) pathogenic	1 lab	2e833fca0a
8:141034062 TRAPPC9 T>G	8	141034062	141034062	T	G	TRAPPC9	c.2671A>C	NM_001160372.4	NP_001153844.1:p.(Thr891Pro)	NC_000008.10:g.141034062T>G	VUS	1 lab	2e846fffbb
12:116446822 MED13L T>G	12	116446822	116446822	T	G	MED13L	c.1396A>C	NM_015335.5	NP_056150.1:p.(Lys466Gln)	NC_000012.11:g.116446822T>G	VUS	1 lab	2e84aab65b
6:157528070 ARID1B G>A	6	157528070	157528070	G	A	ARID1B	c.6164G>A	NM_001374828.1	NP_001361757.1:p.(Cys2055Tyr)	NC_000006.11:g.157528070G>A	VUS	1 lab	2e8576feb8
17:64216750 APOH G>A	17	64216750	64216750	G	A	APOH	c.526C>T	NM_000042.3	NP_000033.2:p.(Pro176Ser)	NC_000017.10:g.64216750G>A	VUS	1 lab	2e86499cf0
14:50586521 SOS2 C>CTT	14	50586521	50586545	C	CTT	SOS2	c.3489+470_3489+471dup	NM_006939.4	NP_008870.2:p.?	NC_000014.8:g.50586544_50586545dup	(Likely) benign	1 lab	2e87bb3630
19:3113328 GNA11 G>T	19	3113328	3113328	G	T	GNA11	c.322G>T	NM_002067.5	NP_002058.2:p.(Ala108Ser)	NC_000019.9:g.3113328G>T	VUS	1 lab	2e88717829
5:90073730 ADGRV1 G>A	5	90073730	90073730	G	A	ADGRV1	c.12536G>A	NM_032119.4	NP_115495.3:p.(Arg4179Gln)	NC_000005.9:g.90073730G>A	(Likely) benign	1 lab	2e88ecc87b
2:219920196 IHH G>A	2	219920196	219920196	G	A	IHH	c.969C>T	NM_002181.4	NP_002172.2:p.(His323=)	NC_000002.11:g.219920196G>A	(Likely) benign	1 lab	2e89edf124
2:240954226 NDUFA10 G>A	2	240954226	240954226	G	A	NDUFA10	c.599C>T	NM_004544.4	NP_004535.1:p.(Pro200Leu)	NC_000002.11:g.240954226G>A	VUS	1 lab	2e8aaaaa34
1:225270398 DNAH14 C>T	1	225270398	225270398	C	T	DNAH14	c.3284C>T	NM_001367479.1	NP_001354408.1:p.(Pro1095Leu)	NC_000001.10:g.225270398C>T	VUS	1 lab	2e8c162856
1:40218728 PPIE T>C	1	40218728	40218728	T	C	PPIE	c.837+4T>C	NM_006112.4	NP_006103.1:p.?	NC_000001.10:g.40218728T>C	VUS	1 lab	2e8d590655
19:5694843 LONP1 C>T	19	5694843	5694843	C	T	LONP1	c.2083G>A	NM_004793.4	NP_004784.2:p.(Val695Met)	NC_000019.9:g.5694843C>T	VUS	1 lab	2e8ea9e125
7:94052354 COL1A2 G>A	7	94052354	94052354	G	A	COL1A2	c.2489G>A	NM_000089.4	NP_000080.2:p.(Arg830Gln)	NC_000007.13:g.94052354G>A	VUS	1 lab	2e8ff776d6
11:108155009 ATM G>A	11	108155009	108155009	G	A	ATM	c.3802G>A	NM_000051.4	NP_000042.3:p.(Val1268Met)	NC_000011.9:g.108155009G>A	VUS	1 lab	2e90047687
16:10032013 GRIN2A T>C	16	10032013	10032013	T	C	GRIN2A	c.810A>G	NM_000833.5	NP_000824.1:p.(Lys270=)	NC_000016.9:g.10032013T>C	(Likely) benign	1 lab	1d0aad1859
21:38573786 TTC3 C>T	21	38573786	38573786	C	T	TTC3	c.5989C>T	NM_001330683.2	NP_001317612.1:p.(Gln1997Ter)	NC_000021.8:g.38573786C>T	VUS	1 lab	2e9229a9b3
2:47630473 MSH2 A>G	2	47630473	47630473	A	G	MSH2	c.143A>G	NM_000251.3	NP_000242.1:p.(Glu48Gly)	NC_000002.11:g.47630473A>G	VUS	1 lab	2e96f7135c
17:8395607 MYH10 C>T	17	8395607	8395607	C	T	MYH10	c.4671+8G>A	NM_001256012.3	NP_001242941.1:p.?	NC_000017.10:g.8395607C>T	(Likely) benign	1 lab	2e9794e93a
2:183867725 NCKAP1 C>T	2	183867725	183867725	C	T	NCKAP1	c.346G>A	NM_013436.5	NP_038464.1:p.(Val116Ile)	NC_000002.11:g.183867725C>T	(Likely) benign	1 lab	2e99fbd1b8
9:140140241 CIMIP2A G>A	9	140140241	140140241	G	A	CIMIP2A	c.121C>T	NM_001001710.3	NP_001001710.1:p.(Gln41Ter)	NC_000009.11:g.140140241G>A	VUS	1 lab	2e9a27726b
21:37650615 DOP1B C>T	21	37650615	37650615	C	T	DOP1B	c.5931C>T	NM_001320714.2	NP_001307643.1:p.(Leu1977=)	NC_000021.8:g.37650615C>T	VUS	1 lab	2e9adff0ff
15:89390506 ACAN C>T	15	89390506	89390506	C	T	ACAN	c.1462C>T	NM_001369268.1	NP_001356197.1:p.(Arg488Cys)	NC_000015.9:g.89390506C>T	VUS	1 lab	2e9c1165f6
15:28514437 HERC2 C>T	15	28514437	28514437	C	T	HERC2	c.1403G>A	NM_004667.6	NP_004658.3:p.(Arg468His)	NC_000015.9:g.28514437C>T	VUS	1 lab	2e9e11d767
1:223177116 DISP1 G>A	1	223177116	223177116	G	A	DISP1	c.2377G>A	NM_001377229.1	NP_001364158.1:p.(Val793Met)	NC_000001.10:g.223177116G>A	VUS	1 lab	2e9f0931be
7:100280304 GIGYF1 C>T	7	100280304	100280304	C	T	GIGYF1	c.2509G>A	NM_001375765.1	NP_001362694.1:p.(Gly837Ser)	NC_000007.13:g.100280304C>T	(Likely) benign	1 lab	2e9f54ba88
1:32124109 COL16A1 G>C	1	32124109	32124109	G	C	COL16A1	c.4000C>G	NM_001856.4	NP_001847.3:p.(Pro1334Ala)	NC_000001.10:g.32124109G>C	VUS	1 lab	2ea120f3b0
7:766779 PRKAR1B T>G	7	766779	766779	T	G	PRKAR1B	c.-23+68A>C	NM_001164760.2	NP_001158232.1:p.?	NC_000007.13:g.766779T>G	VUS	1 lab	2ea131b8e8
22:31010339 TCN2 A>G	22	31010339	31010339	A	G	TCN2	c.431A>G	NM_000355.4	NP_000346.2:p.(His144Arg)	NC_000022.10:g.31010339A>G	(Likely) benign	1 lab	2ea13b6706
6:43128534 PTK7 G>T	6	43128534	43128534	G	T	PTK7	c.3128G>T	NM_002821.5	NP_002812.2:p.(Cys1043Phe)	NC_000006.11:g.43128534G>T	VUS	1 lab	2ea190f33d
X:73641542 SLC16A2 GAGCCGGTGGGTAGCCC>G	X	73641542	73641560	GAGCCGGTGGGTAGCCC	G	SLC16A2	c.73_88del	NM_006517.5	NP_006508.2:p.(Pro25SerfsTer54)	NC_000023.10:g.73641545_73641560del	(Likely) pathogenic	1 lab	2ea2e9c4e5
1:64117491 PGM1 G>A	1	64117491	64117491	G	A	PGM1	c.1432G>A	NM_002633.3	NP_002624.2:p.(Asp478Asn)	NC_000001.10:g.64117491G>A	VUS	1 lab	2ea3af0c7a
11:696691 TMEM80 AGGAGGT>A	11	696691	696697	AGGAGGT	A	TMEM80	c.19+846_19+851del	NM_001042463.3	NP_001035928.3:p.?	NC_000011.9:g.696692_696697del	(Likely) benign	1 lab	2ea3b51e49
4:113568117 LARP7 T>C	4	113568117	113568117	T	C	LARP7	c.552+6T>C	NM_016648.4	NP_057732.2:p.?	NC_000004.11:g.113568117T>C	(Likely) benign	1 lab	2ea5076b1d
7:5230091 WIPI2 A>C	7	5230091	5230091	A	C	WIPI2	c.41A>C	NM_015610.4	NP_056425.1:p.(Gln14Pro)	NC_000007.13:g.5230091A>C	VUS	1 lab	2eb5ad9f8d
1:148644387 PPIAL4E C>T	1	148644387	148644387	C	T	PPIAL4E	c.302C>T	NM_001144032.2	NP_001137504.2:p.(Ala101Val)	NC_000001.10:g.148644387C>T	(Likely) benign	1 lab	2ea5991c8e
1:63128719 DOCK7 C>T	1	63128719	63128719	C	T	DOCK7	c.121G>A	NM_001367561.1	NP_001354490.1:p.(Gly41Ser)	NC_000001.10:g.63128719C>T	VUS	1 lab	2ea59ff593
16:89762086 CDK10 C>T	16	89762086	89762086	C	T	CDK10	c.1069C>T	NM_052988.5	NP_443714.3:p.(Arg357Cys)	NC_000016.9:g.89762086C>T	VUS	1 lab	2ea6aa8549
11:119145559 CBL C>T	11	119145559	119145559	C	T	CBL	c.765C>T	NM_005188.4	NP_005179.2:p.(Leu255=)	NC_000011.9:g.119145559C>T	(Likely) benign	1 lab	2ea6f19ab5
16:602155 CAPN15 C>T	16	602155	602155	C	T	CAPN15	c.2450C>T	NM_005632.3	NP_005623.1:p.(Ala817Val)	NC_000016.9:g.602155C>T	VUS	1 lab	2ea954a6d9
6:30888162 VARS2 G>A	6	30888162	30888162	G	A	VARS2	c.1346G>A	NM_020442.6	NP_065175.4:p.(Trp449Ter)	NC_000006.11:g.30888162G>A	VUS	1 lab	2ea9e68024
7:29606271 PRR15 C>G	7	29606271	29606271	C	G	PRR15	c.326C>G	NM_175887.3	NP_787083.1:p.(Pro109Arg)	NC_000007.13:g.29606271C>G	(Likely) benign	1 lab	2eab1c4bc4
17:79813124 P4HB A>G	17	79813124	79813124	A	G	P4HB	c.518T>C	NM_000918.4	NP_000909.2:p.(Leu173Ser)	NC_000017.10:g.79813124A>G	VUS	1 lab	2eab2543c7
16:53496460 RBL2 A>C	16	53496460	53496460	A	C	RBL2	c.1457-4A>C	NM_005611.4	NP_005602.3:p.?	NC_000016.9:g.53496460A>C	(Likely) benign	1 lab	2eabdb75c5
6:32053637 TNXB C>T	6	32053637	32053637	C	T	TNXB	c.3038G>A	NM_001365276.2	NP_001352205.1:p.(Arg1013His)	NC_000006.11:g.32053637C>T	VUS	1 lab	2eac4ced55
5:140307335 PCDHAC1 G>T	5	140307335	140307335	G	T	PCDHAC1	c.858G>T	NM_018898.5	NP_061721.2:p.(Val286=)	NC_000005.9:g.140307335G>T	VUS	1 lab	2ead9d4f70
17:2868828 RAP1GAP2 T>C	17	2868828	2868828	T	C	RAP1GAP2	c.493-6T>C	NM_015085.5	NP_055900.4:p.?	NC_000017.10:g.2868828T>C	(Likely) benign	1 lab	2eae868f2b
7:98529072 TRRAP G>C	7	98529072	98529072	G	C	TRRAP	c.3636G>C	NM_001375524.1	NP_001362453.1:p.(Gln1212His)	NC_000007.13:g.98529072G>C	(Likely) benign	1 lab	2eaffec32d
19:19765487 ATP13A1 C>T	19	19765487	19765487	C	T	ATP13A1	c.1678G>A	NM_020410.3	NP_065143.2:p.(Val560Met)	NC_000019.9:g.19765487C>T	VUS	1 lab	2eb02bc81b
20:45920540 ZMYND8 C>A	20	45920540	45920540	C	A	ZMYND8	c.660G>T	NM_001281775.3	NP_001268704.1:p.(Lys220Asn)	NC_000020.10:g.45920540C>A	VUS	1 lab	2eb65badcd
14:92484017 TRIP11 T>G	14	92484017	92484017	T	G	TRIP11	c.657+9A>C	NM_004239.4	NP_004230.2:p.?	NC_000014.8:g.92484017T>G	(Likely) benign	1 lab	2eb6eb03ec
17:48356228 TMEM92 CT>C	17	48356228	48356229	CT	C	TMEM92	c.238del	NM_153229.3	NP_694961.2:p.(Cys80ValfsTer44)	NC_000017.10:g.48356229del	VUS	1 lab	2eb71c7bcf
4:2306568 ZFYVE28 G>A	4	2306568	2306568	G	A	ZFYVE28	c.1499C>T	NM_020972.3	NP_066023.2:p.(Thr500Met)	NC_000004.11:g.2306568G>A	VUS	1 lab	2ebccf9858
18:52262290 DYNAP C>T	18	52262290	52262290	C	T	DYNAP	c.178C>T	NM_173629.3	NP_775900.2:p.(Leu60Phe)	NC_000018.9:g.52262290C>T	VUS	1 lab	2ebcf5d2f3
5:131722796 SLC22A5 A>G	5	131722796	131722796	A	G	SLC22A5	c.904A>G	NM_003060.4	NP_003051.1:p.(Lys302Glu)	NC_000005.9:g.131722796A>G	(Likely) benign	1 lab	2ebdfa85da
17:73488875 TMEM94 AG>A	17	73488875	73488877	AG	A	TMEM94	c.1912+7del	NM_014738.6	NP_055553.3:p.?	NC_000017.10:g.73488877del	(Likely) benign	1 lab	2ebf3ced33
9:139909472 ABCA2 G>A	9	139909472	139909472	G	A	ABCA2	c.3775C>T	NM_001606.5	NP_001597.2:p.(Arg1259Cys)	NC_000009.11:g.139909472G>A	(Likely) benign	1 lab	2ec18aecb2
1:16202822 SPEN C>G	1	16202822	16202822	C	G	SPEN	c.530C>G	NM_015001.3	NP_055816.2:p.(Thr177Ser)	NC_000001.10:g.16202822C>G	(Likely) benign	1 lab	2ec2499a9b
13:101742321 NALCN C>T	13	101742321	101742321	C	T	NALCN	c.3270-4G>A	NM_052867.4	NP_443099.1:p.?	NC_000013.10:g.101742321C>T	(Likely) benign	1 lab	2ec2a76cce
17:26918899 SPAG5 G>A	17	26918899	26918899	G	A	SPAG5	c.1263-9C>T	NM_006461.4	NP_006452.3:p.?	NC_000017.10:g.26918899G>A	(Likely) benign	1 lab	2ec2e35679
2:26672873 DRC1 A>C	2	26672873	26672873	A	C	DRC1	c.1519A>C	NM_145038.5	NP_659475.2:p.(Ile507Leu)	NC_000002.11:g.26672873A>C	(Likely) benign	1 lab	2ec3017615
13:111102041 COL4A2 C>T	13	111102041	111102041	C	T	COL4A2	c.1094C>T	NM_001846.4	NP_001837.2:p.(Pro365Leu)	NC_000013.10:g.111102041C>T	VUS	1 lab	1cc5aa8c4d
15:31619823 KLF13 G>T	15	31619823	31619823	G	T	KLF13	c.408G>T	NM_015995.4	NP_057079.2:p.(Glu136Asp)	NC_000015.9:g.31619823G>T	(Likely) benign	1 lab	2ec5e3dbce
3:182585201 ATP11B A>G	3	182585201	182585201	A	G	ATP11B	c.1657A>G	NM_014616.3	NP_055431.1:p.(Met553Val)	NC_000003.11:g.182585201A>G	VUS	1 lab	2ec6701889
8:61471437 RAB2A C>G	8	61471437	61471437	C	G	RAB2A	c.73C>G	NM_002865.3	NP_002856.1:p.(Gln25Glu)	NC_000008.10:g.61471437C>G	VUS	1 lab	2ec7325c93
19:422258 SHC2 G>A	19	422258	422258	G	A	SHC2	c.1508C>T	NM_012435.3	NP_036567.2:p.(Ala503Val)	NC_000019.9:g.422258G>A	(Likely) benign	1 lab	2ec7f3266e
11:118895632 SLC37A4 C>T	11	118895632	118895632	C	T	SLC37A4	c.1278G>A	NM_001164277.2	NP_001157749.1:p.(Lys426=)	NC_000011.9:g.118895632C>T	(Likely) benign	1 lab	2ec8d6eeae
17:78064112 CCDC40 AAC>A	17	78064112	78064116	AAC	A	CCDC40	c.2832+432_2832+433del	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064115_78064116del	VUS	1 lab	2ec97f1d10
17:72791205 SLC38A12 C>T	17	72791205	72791205	C	T	SLC38A12	c.482C>T	NM_017728.4	NP_060198.3:p.(Ala161Val)	NC_000017.10:g.72791205C>T	VUS	1 lab	2ecac86d9d
22:17589953 IL17RA C>G	22	17589953	17589953	C	G	IL17RA	c.1844C>G	NM_014339.6	NP_055154.3:p.(Thr615Ser)	NC_000022.10:g.17589953C>G	VUS	1 lab	1d0f4758f3
7:123599755 SPAM1 C>T	7	123599755	123599755	C	T	SPAM1	c.1262C>T	NM_153189.3	NP_694859.1:p.(Pro421Leu)	NC_000007.13:g.123599755C>T	VUS	1 lab	2ecb11a3ff
5:127685120 FBN2 G>A	5	127685120	127685120	G	A	FBN2	c.2908C>T	NM_001999.4	NP_001990.2:p.(Arg970Cys)	NC_000005.9:g.127685120G>A	VUS	1 lab	2ecc0ec3dd
16:88891187 GALNS C>G	16	88891187	88891187	C	G	GALNS	c.1230G>C	NM_000512.5	NP_000503.1:p.(Glu410Asp)	NC_000016.9:g.88891187C>G	VUS	1 lab	2ecd98ca14
5:115783498 SEMA6A C>T	5	115783498	115783498	C	T	SEMA6A	c.1904G>A	NM_020796.5	NP_065847.1:p.(Arg635Gln)	NC_000005.9:g.115783498C>T	VUS	1 lab	2ecdd97d87
2:211167237 MYL1 G>C	2	211167237	211167237	G	C	MYL1	c.135C>G	NM_079420.3	NP_524144.1:p.(Ile45Met)	NC_000002.11:g.211167237G>C	VUS	1 lab	2ecde52581
6:33136734 COL11A2 G>A	6	33136734	33136734	G	A	COL11A2	c.3850C>T	NM_080680.3	NP_542411.2:p.(Arg1284Trp)	NC_000006.11:g.33136734G>A	VUS	1 lab	2ece74440b
7:98478852 TRRAP G>C	7	98478852	98478852	G	C	TRRAP	c.79G>C	NM_001375524.1	NP_001362453.1:p.(Ala27Pro)	NC_000007.13:g.98478852G>C	VUS	1 lab	2ece7d773e
10:69991353 ATOH7 TGCCCGCGCACTCGGTGCC>T	10	69991353	69991381	TGCCCGCGCACTCGGTGCC	T	ATOH7	c.64_81del	NM_145178.4	NP_660161.1:p.(Gly22_Gly27del)	NC_000010.10:g.69991364_69991381del	VUS	1 lab	2eceef23f4
14:75018980 LTBP2 C>T	14	75018980	75018980	C	T	LTBP2	c.1309G>A	NM_000428.3	NP_000419.1:p.(Glu437Lys)	NC_000014.8:g.75018980C>T	(Likely) benign	1 lab	2ed312788d
2:179426234 TTN T>C	2	179426234	179426234	T	C	TTN	c.84625A>G	NM_001267550.2	NP_001254479.2:p.(Ile28209Val)	NC_000002.11:g.179426234T>C	VUS	1 lab	2ed33be81c
11:103022859 DYNC2H1 C>T	11	103022859	103022859	C	T	DYNC2H1	c.2947-6C>T	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103022859C>T	(Likely) benign	1 lab	2ed3e95a84
8:141461483 TRAPPC9 C>T	8	141461483	141461483	C	T	TRAPPC9	c.285-1G>A	NM_031466.6	NP_113654.4:p.?	NC_000008.10:g.141461483C>T	(Likely) pathogenic	1 lab	1d193ce457
X:150840069 PASD1 G>A	X	150840069	150840069	G	A	PASD1	c.1255G>A	NM_173493.3	NP_775764.2:p.(Val419Ile)	NC_000023.10:g.150840069G>A	VUS	1 lab	2ed7242f9a
9:141016023 CACNA1B C>T	9	141016023	141016023	C	T	CACNA1B	c.6592C>T	NM_000718.4	NP_000709.1:p.(Arg2198Cys)	NC_000009.11:g.141016023C>T	VUS	1 lab	2ed72ad531
6:121769102 GJA1 G>A	6	121769102	121769102	G	A	GJA1	c.1109G>A	NM_000165.5	NP_000156.1:p.(Arg370His)	NC_000006.11:g.121769102G>A	(Likely) benign	1 lab	2ed863b6bc
4:74005943 ANKRD17 C>G	4	74005943	74005943	C	G	ANKRD17	c.2390G>C	NM_032217.5	NP_115593.3:p.(Gly797Ala)	NC_000004.11:g.74005943C>G	VUS	1 lab	2ed867aa87
11:70505928 SHANK2 C>G	11	70505928	70505928	C	G	SHANK2	c.2061+5G>C	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70505928C>G	VUS	1 lab	3741bd54ff
17:61554505 ACE CGCTGCT>C	17	61554505	61554512	CGCTGCT	C	ACE	c.52_57del	NM_000789.4	NP_000780.1:p.(Leu21_Leu22del)	NC_000017.10:g.61554507_61554512del	VUS	1 lab	2edd1f9667
3:48602254 COL7A1 C>T	3	48602254	48602254	C	T	COL7A1	c.8780G>A	NM_000094.4	NP_000085.1:p.(Arg2927His)	NC_000003.11:g.48602254C>T	(Likely) pathogenic	1 lab	2edee5d7a9
1:186099099 HMCN1 C>T	1	186099099	186099099	C	T	HMCN1	c.12906C>T	NM_031935.3	NP_114141.2:p.(Ala4302=)	NC_000001.10:g.186099099C>T	(Likely) benign	1 lab	2ee01e2bd5
1:145474621 ANKRD34A T>TC	1	145474621	145474625	T	TC	ANKRD34A	c.1297dup	NM_001039888.4	NP_001034977.1:p.(His433ProfsTer6)	NC_000001.10:g.145474625dup	(Likely) benign	1 lab	2ee069b6a2
19:15272105 NOTCH3 C>T	19	15272105	15272105	C	T	NOTCH3	c.6334G>A	NM_000435.3	NP_000426.2:p.(Gly2112Ser)	NC_000019.9:g.15272105C>T	(Likely) benign	1 lab	2ee0ca48c1
18:72997850 TSHZ1 G>C	18	72997850	72997850	G	C	TSHZ1	c.488G>C	NM_001308210.2	NP_001295139.1:p.(Cys163Ser)	NC_000018.9:g.72997850G>C	(Likely) benign	1 lab	2ee12b5777
1:240371573 FMN2 C>T	1	240371573	240371573	C	T	FMN2	c.3461C>T	NM_020066.5	NP_064450.3:p.(Pro1154Leu)	NC_000001.10:g.240371573C>T	(Likely) benign	1 lab	2ee16c7933
2:152573972 NEB T>C	2	152573972	152573972	T	C	NEB	c.780A>G	NM_001164508.2	NP_001157980.2:p.(Pro260=)	NC_000002.11:g.152573972T>C	VUS	1 lab	2ee17becb4
X:36122632 CFAP47 G>A	X	36122632	36122632	G	A	CFAP47	c.5144G>A	NM_001304548.2	NP_001291477.1:p.(Arg1715His)	NC_000023.10:g.36122632G>A	VUS	1 lab	2ee388f5e0
14:104053670 COA8 A>C	14	104053670	104053670	A	C	COA8	c.445A>C	NM_001370595.2	NP_001357524.1:p.(Lys149Gln)	NC_000014.8:g.104053670A>C	VUS	1 lab	2ee3c86e3a
11:124624650 ESAM C>T	11	124624650	124624650	C	T	ESAM	c.617G>A	NM_138961.3	NP_620411.2:p.(Arg206His)	NC_000011.9:g.124624650C>T	VUS	1 lab	2ee5185abe
6:101247393 ASCC3 C>T	6	101247393	101247393	C	T	ASCC3	c.1183G>A	NM_006828.4	NP_006819.2:p.(Ala395Thr)	NC_000006.11:g.101247393C>T	(Likely) benign	1 lab	2ee575e95e
5:107716734 FBXL17 C>T	5	107716734	107716734	C	T	FBXL17	c.659G>A	NM_001163315.3	NP_001156787.2:p.(Cys220Tyr)	NC_000005.9:g.107716734C>T	VUS	1 lab	2ee58eb448
17:7756753 KDM6B G>C	17	7756753	7756753	G	C	KDM6B	c.4908+55G>C	NM_001348716.2	NP_001335645.1:p.?	NC_000017.10:g.7756753G>C	(Likely) benign	1 lab	2ee5c00f81
6:31933676 SKIC2 G>GT	6	31933676	31933677	G	GT	SKIC2	c.2089dup	NM_006929.5	NP_008860.4:p.(Tyr697LeufsTer76)	NC_000006.11:g.31933677dup	VUS	1 lab	2ee6354314
X:117054237 KLHL13 C>A	X	117054237	117054237	C	A	KLHL13	c.289G>T	NM_001168302.2	NP_001161774.1:p.(Ala97Ser)	NC_000023.10:g.117054237C>A	(Likely) benign	1 lab	2ee63c2669
22:42524183 CYP2D6 A>T	22	42524183	42524183	A	T	CYP2D6	c.836T>A	NM_000106.6	NP_000097.3:p.(Met279Lys)	NC_000022.10:g.42524183A>T	VUS	1 lab	2ee751711b
1:197070569 ASPM T>A	1	197070569	197070569	T	A	ASPM	c.7812A>T	NM_018136.5	NP_060606.3:p.(Lys2604Asn)	NC_000001.10:g.197070569T>A	(Likely) benign	1 lab	2ee7fa7949
2:189876493 COL3A1 T>G	2	189876493	189876493	T	G	COL3A1	c.4394T>G	NM_000090.4	NP_000081.2:p.(Phe1465Cys)	NC_000002.11:g.189876493T>G	VUS	1 lab	2ee83915e0
17:71394211 SDK2 C>T	17	71394211	71394211	C	T	SDK2	c.3317G>A	NM_001144952.2	NP_001138424.1:p.(Arg1106His)	NC_000017.10:g.71394211C>T	VUS	1 lab	2ee936623a
7:134252926 AKR1B15 T>C	7	134252926	134252926	T	C	AKR1B15	c.167T>C	NM_001080538.3	NP_001074007.2:p.(Val56Ala)	NC_000007.13:g.134252926T>C	VUS	1 lab	2ee9a6b563
4:166794930 TLL1 C>G	4	166794930	166794930	C	G	TLL1	c.-127C>G	NM_012464.5	NP_036596.3:p.?	NC_000004.11:g.166794930C>G	(Likely) benign	1 lab	2eeac70fe5
9:135940411 CEL C>T	9	135940411	135940411	C	T	CEL	c.341-16C>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135940411C>T	(Likely) benign	1 lab	2eeb6dbc87
16:88779320 CTU2 C>A	16	88779320	88779320	C	A	CTU2	c.737+7C>A	NM_001012759.3	NP_001012777.1:p.?	NC_000016.9:g.88779320C>A	(Likely) benign	1 lab	2eee075835
1:154960853 FLAD1 A>G	1	154960853	154960853	A	G	FLAD1	c.645A>G	NM_025207.5	NP_079483.3:p.(Glu215=)	NC_000001.10:g.154960853A>G	(Likely) benign	1 lab	1d1c4abe5f
22:40045551 CACNA1I T>C	22	40045551	40045551	T	C	CACNA1I	c.1613T>C	NM_021096.4	NP_066919.2:p.(Leu538Pro)	NC_000022.10:g.40045551T>C	(Likely) benign	1 lab	2ef0fb0a3f
19:12996256 KLF1 G>A	19	12996256	12996256	G	A	KLF1	c.788C>T	NM_006563.5	NP_006554.1:p.(Pro263Leu)	NC_000019.9:g.12996256G>A	VUS	1 lab	2ef1df8fee
19:6380586 GTF2F1 G>A	19	6380586	6380586	G	A	GTF2F1	c.1347C>T	NM_002096.3	NP_002087.2:p.(Ser449=)	NC_000019.9:g.6380586G>A	VUS	1 lab	2ef36f2a4e
5:149447875 CSF1R G>A	5	149447875	149447875	G	A	CSF1R	c.1529C>T	NM_001288705.3	NP_001275634.1:p.(Pro510Leu)	NC_000005.9:g.149447875G>A	(Likely) benign	1 lab	2f031587c3
2:97400175 LMAN2L A>T	2	97400175	97400175	A	T	LMAN2L	c.395T>A	NM_030805.4	NP_110432.1:p.(Ile132Asn)	NC_000002.11:g.97400175A>T	VUS	1 lab	2ef93ff2c3
10:111985970 MXI1 T>C	10	111985970	111985970	T	C	MXI1	c.2T>C	NM_005962.5	NP_005953.4:p.(Met1?)	NC_000010.10:g.111985970T>C	VUS	1 lab	1cd0cb3505
2:179397922 TTN G>T	2	179397922	179397922	G	T	TTN	c.103420C>A	NM_001267550.2	NP_001254479.2:p.(Gln34474Lys)	NC_000002.11:g.179397922G>T	VUS	1 lab	2efa2d9e05
3:114057985 ZBTB20 C>G	3	114057985	114057985	C	G	ZBTB20	c.2093G>C	NM_001164342.2	NP_001157814.1:p.(Gly698Ala)	NC_000003.11:g.114057985C>G	VUS	1 lab	1cd579b64a
10:62021645 ANK3 C>T	10	62021645	62021645	C	T	ANK3	c.770G>A	NM_020987.5	NP_066267.2:p.(Arg257Gln)	NC_000010.10:g.62021645C>T	VUS	1 lab	2efdae30f4
22:51117458 SHANK3 C>A	22	51117458	51117458	C	A	SHANK3	c.837C>A	NM_001372044.2	NP_001358973.1:p.(Asp279Glu)	NC_000022.10:g.51117458C>A	(Likely) benign	1 lab	2efdfffd01
19:18899204 COMP T>C	19	18899204	18899204	T	C	COMP	c.867+15A>G	NM_000095.3	NP_000086.2:p.?	NC_000019.9:g.18899204T>C	(Likely) benign	1 lab	2efe76b83a
9:109690998 ZNF462 A>G	9	109690998	109690998	A	G	ZNF462	c.4805A>G	NM_021224.6	NP_067047.4:p.(Gln1602Arg)	NC_000009.11:g.109690998A>G	(Likely) benign	1 lab	2eff2b5d19
2:179612197 TTN G>T	2	179612197	179612197	G	T	TTN	c.11312-5549C>A	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179612197G>T	VUS	1 lab	2effd9d906
1:159899462 IGSF9 C>A	1	159899462	159899462	C	A	IGSF9	c.2292G>T	NM_001135050.2	NP_001128522.1:p.(Arg764Ser)	NC_000001.10:g.159899462C>A	(Likely) benign	1 lab	2effed217d
8:43024368 HGSNAT G>A	8	43024368	43024368	G	A	HGSNAT	c.616G>A	NM_152419.3	NP_689632.2:p.(Asp206Asn)	NC_000008.10:g.43024368G>A	VUS	1 lab	2f00d50769
5:127622413 FBN2 C>T	5	127622413	127622413	C	T	FBN2	c.7009G>A	NM_001999.4	NP_001990.2:p.(Val2337Ile)	NC_000005.9:g.127622413C>T	(Likely) benign	1 lab	2f013be1db
6:51613476 PKHD1 G>A	6	51613476	51613476	G	A	PKHD1	c.8951-13C>T	NM_138694.4	NP_619639.3:p.?	NC_000006.11:g.51613476G>A	(Likely) benign	1 lab	2f017c8159
X:71360060 NHSL2 C>G	X	71360060	71360060	C	G	NHSL2	c.2662C>G	NM_001013627.3	NP_001013649.2:p.(Pro888Ala)	NC_000023.10:g.71360060C>G	(Likely) benign	1 lab	2f037f016e
1:109618533 TAF13 G>C	1	109618533	109618533	G	C	TAF13	c.27+10C>G	NM_005645.4	NP_005636.1:p.?	NC_000001.10:g.109618533G>C	(Likely) benign	1 lab	2f059db819
1:45292173 PTCH2 G>A	1	45292173	45292173	G	A	PTCH2	c.2963C>T	NM_003738.5	NP_003729.3:p.(Thr988Met)	NC_000001.10:g.45292173G>A	(Likely) benign	1 lab	2f05feb9e0
3:133119154 BFSP2 G>A	3	133119154	133119154	G	A	BFSP2	c.227G>A	NM_003571.4	NP_003562.1:p.(Arg76Gln)	NC_000003.11:g.133119154G>A	(Likely) benign	1 lab	2f06ef8f2d
19:36218356 KMT2B C>T	19	36218356	36218356	C	T	KMT2B	c.4135C>T	NM_014727.3	NP_055542.1:p.(Leu1379Phe)	NC_000019.9:g.36218356C>T	VUS	1 lab	2f07978e0c
2:135214310 TMEM163 G>A	2	135214310	135214310	G	A	TMEM163	c.847C>T	NM_030923.5	NP_112185.1:p.(Arg283Cys)	NC_000002.11:g.135214310G>A	(Likely) benign	1 lab	2f07e75179
19:42794620 CIC C>T	19	42794620	42794620	C	T	CIC	c.4427C>T	NM_001386298.1	NP_001373227.1:p.(Thr1476Ile)	NC_000019.9:g.42794620C>T	VUS	1 lab	2f08d78b8b
1:162748405 DDR2 TG>T	1	162748405	162748409	TG	T	DDR2	c.2323del	NM_006182.4	NP_006173.2:p.(Val775LeufsTer53)	NC_000001.10:g.162748409del	(Likely) pathogenic	1 lab	2f099b41e8
X:15301701 ASB11 C>T	X	15301701	15301701	C	T	ASB11	c.898G>A	NM_080873.3	NP_543149.1:p.(Gly300Ser)	NC_000023.10:g.15301701C>T	VUS	1 lab	2f09b11f39
19:1848309 REXO1 A>G	19	1848309	1848309	A	G	REXO1	c.49T>C	NM_020695.4	NP_065746.3:p.(Ser17Pro)	NC_000019.9:g.1848309A>G	(Likely) benign	1 lab	2f0b230fd2
10:73472506 C10orf105 T>A	10	73472506	73472506	T	A	C10orf105	c.*3187A>T	NM_001164375.3	NP_001157847.1:p.?	NC_000010.10:g.73472506T>A	VUS	1 lab	2f0fe0f4cd
16:71710544 PHLPP2 T>C	16	71710544	71710544	T	C	PHLPP2	c.1277A>G	NM_015020.3	NP_055835.2:p.(His426Arg)	NC_000016.9:g.71710544T>C	VUS	1 lab	2f11b1a35a
5:110440033 WDR36 C>T	5	110440033	110440033	C	T	WDR36	c.888C>T	NM_139281.3	NP_644810.2:p.(Gly296=)	NC_000005.9:g.110440033C>T	(Likely) benign	1 lab	2f122b8117
11:67811642 TCIRG1 G>A	11	67811642	67811642	G	A	TCIRG1	c.851G>A	NM_006019.4	NP_006010.2:p.(Arg284Gln)	NC_000011.9:g.67811642G>A	VUS	1 lab	2f1377d808
16:2818158 SRRM2 CTCT>C	16	2818158	2818166	CTCT	C	SRRM2	c.7635_7637del	NM_016333.4	NP_057417.3:p.(Ser2556del)	NC_000016.9:g.2818164_2818166del	(Likely) benign	1 lab	2f13a02ee8
7:6045628 PMS2 G>A	7	6045628	6045628	G	A	PMS2	c.58C>T	NM_000535.7	NP_000526.2:p.(Arg20Trp)	NC_000007.13:g.6045628G>A	VUS	1 lab	2f143f14cb
6:110422902 WASF1 G>A	6	110422902	110422902	G	A	WASF1	c.1411C>T	NM_003931.3	NP_003922.1:p.(Pro471Ser)	NC_000006.11:g.110422902G>A	(Likely) benign	1 lab	2f14814bda
5:13758969 DNAH5 T>G	5	13758969	13758969	T	G	DNAH5	c.10405A>C	NM_001369.3	NP_001360.1:p.(Met3469Leu)	NC_000005.9:g.13758969T>G	(Likely) benign	1 lab	2f15f95caa
14:36207855 RALGAPA1 T>G	14	36207855	36207855	T	G	RALGAPA1	c.1451A>C	NM_001346249.2	NP_001333178.1:p.(Glu484Ala)	NC_000014.8:g.36207855T>G	VUS	1 lab	2f171308c6
X:152226569 PNMA3 G>A	X	152226569	152226569	G	A	PNMA3	c.1157G>A	NM_013364.6	NP_037496.4:p.(Arg386Gln)	NC_000023.10:g.152226569G>A	VUS	1 lab	2f17ef96c2
11:680541 DEAF1 C>A	11	680541	680541	C	A	DEAF1	c.997+422G>T	NM_021008.4	NP_066288.2:p.?	NC_000011.9:g.680541C>A	(Likely) benign	1 lab	2f18139e2c
7:128829279 SMO C>A	7	128829279	128829279	C	A	SMO	c.287C>A	NM_005631.5	NP_005622.1:p.(Ser96Ter)	NC_000007.13:g.128829279C>A	VUS	1 lab	2f19be770d
9:139731820 RABL6 C>T	9	139731820	139731820	C	T	RABL6	c.832C>T	NM_024718.5	NP_078994.3:p.(Arg278Cys)	NC_000009.11:g.139731820C>T	VUS	1 lab	2f1a31a823
4:39219636 WDR19 C>T	4	39219636	39219636	C	T	WDR19	c.1390C>T	NM_025132.4	NP_079408.3:p.(Arg464Cys)	NC_000004.11:g.39219636C>T	VUS	1 lab	2f1b1f2710
16:81944203 PLCG2 C>T	16	81944203	81944203	C	T	PLCG2	c.1812C>T	NM_002661.3	NP_002652.2:p.(Asn604=)	NC_000016.9:g.81944203C>T	(Likely) benign	1 lab	1d201b6c54
19:620465 POLRMT G>A	19	620465	620465	G	A	POLRMT	c.2663C>T	NM_005035.4	NP_005026.3:p.(Ala888Val)	NC_000019.9:g.620465G>A	VUS	1 lab	2f1cab1b17
6:132172318 ENPP1 AG>A	6	132172318	132172319	AG	A	ENPP1	c.468del	NM_006208.3	NP_006199.2:p.(Arg158GlyfsTer2)	NC_000006.11:g.132172319del	VUS	1 lab	2f1ced16ed
3:27763422 EOMES CG>C	3	27763422	27763424	CG	C	EOMES	c.363del	NM_001278182.2	NP_001265111.1:p.(Ala122ProfsTer18)	NC_000003.11:g.27763424del	VUS	1 lab	2f1f938318
10:50946067 OGDHL C>T	10	50946067	50946067	C	T	OGDHL	c.2443G>A	NM_018245.3	NP_060715.2:p.(Val815Met)	NC_000010.10:g.50946067C>T	VUS	1 lab	2f21bb4b28
22:32160944 DEPDC5 T>A	22	32160944	32160944	T	A	DEPDC5	c.194-17T>A	NM_001242896.3	NP_001229825.1:p.?	NC_000022.10:g.32160944T>A	(Likely) benign	1 lab	1d21bb5c9e
17:15928474 TTC19 A>G	17	15928474	15928474	A	G	TTC19	c.820A>G	NM_017775.4	NP_060245.3:p.(Arg274Gly)	NC_000017.10:g.15928474A>G	VUS	1 lab	2f26aa9949
9:133730201 ABL1 G>A	9	133730201	133730201	G	A	ABL1	c.267G>A	NM_005157.6	NP_005148.2:p.(Arg89=)	NC_000009.11:g.133730201G>A	(Likely) benign	1 lab	2f26c70817
11:22646421 FANCF T>A	11	22646421	22646421	T	A	FANCF	c.936A>T	NM_022725.4	NP_073562.1:p.(Gln312His)	NC_000011.9:g.22646421T>A	VUS	1 lab	2f274b0138
3:4735396 ITPR1 G>T	3	4735396	4735396	G	T	ITPR1	c.4252G>T	NM_001378452.1	NP_001365381.1:p.(Val1418Leu)	NC_000003.11:g.4735396G>T	VUS	1 lab	2f28001295
11:1013992 MUC6 C>T	11	1013992	1013992	C	T	MUC6	c.7049G>A	NM_005961.3	NP_005952.2:p.(Ser2350Asn)	NC_000011.9:g.1013992C>T	(Likely) benign	1 lab	2f2a2bc93e
2:234669681 UGT1A1 T>C	2	234669681	234669681	T	C	UGT1A1	c.748T>C	NM_000463.3	NP_000454.1:p.(Ser250Pro)	NC_000002.11:g.234669681T>C	VUS	1 lab	2f2ca80d84
3:46009501 FYCO1 C>T	3	46009501	46009501	C	T	FYCO1	c.1325G>A	NM_024513.4	NP_078789.2:p.(Arg442Gln)	NC_000003.11:g.46009501C>T	(Likely) benign	1 lab	2f2dc43227
12:48134826 RAPGEF3 G>A	12	48134826	48134826	G	A	RAPGEF3	c.1924-3C>T	NM_001098531.4	NP_001092001.2:p.?	NC_000012.11:g.48134826G>A	(Likely) benign	1 lab	2f32f29860
X:150349458 GPR50 A>C	X	150349458	150349458	A	C	GPR50	c.1403A>C	NM_004224.3	NP_004215.2:p.(Lys468Thr)	NC_000023.10:g.150349458A>C	(Likely) benign	1 lab	2f33c75c3f
X:54209388 FAM120C T>G	X	54209388	54209388	T	G	FAM120C	c.244A>C	NM_017848.6	NP_060318.4:p.(Thr82Pro)	NC_000023.10:g.54209388T>G	(Likely) benign	1 lab	2f360b3d8e
15:42137152 PLA2G4B G>T	15	42137152	42137152	G	T	PLA2G4B	c.1123G>T	NM_001114633.2	NP_001108105.1:p.(Ala375Ser)	NC_000015.9:g.42137152G>T	VUS	1 lab	2f383deaa9
15:90319911 MESP2 T>C	15	90319911	90319911	T	C	MESP2	c.323T>C	NM_001039958.2	NP_001035047.1:p.(Leu108Pro)	NC_000015.9:g.90319911T>C	VUS	1 lab	2f38e4e798
7:44187294 GCK T>G	7	44187294	44187294	T	G	GCK	c.818A>C	NM_000162.5	NP_000153.1:p.(Tyr273Ser)	NC_000007.13:g.44187294T>G	(Likely) pathogenic	1 lab	2f3c70d058
6:111136248 CDK19 G>A	6	111136248	111136248	G	A	CDK19	c.92C>T	NM_015076.5	NP_055891.1:p.(Thr31Ile)	NC_000006.11:g.111136248G>A	(Likely) pathogenic	1 lab	2f3cb654b4
5:67588084 PIK3R1 C>T	5	67588084	67588084	C	T	PIK3R1	c.917-3C>T	NM_181523.3	NP_852664.1:p.?	NC_000005.9:g.67588084C>T	VUS	1 lab	2f3da0955a
6:30917675 MUCL3 G>T	6	30917675	30917675	G	T	MUCL3	c.1434G>T	NM_080870.4	NP_543146.2:p.(Glu478Asp)	NC_000006.11:g.30917675G>T	(Likely) benign	1 lab	2f407cd31e
X:102005548 GPRASP3 A>C	X	102005548	102005548	A	C	GPRASP3	c.1625A>C	NM_001142524.2	NP_001135996.1:p.(Glu542Ala)	NC_000023.10:g.102005548A>C	VUS	1 lab	2f40f3e154
14:21359987 RNASE3 C>G	14	21359987	21359987	C	G	RNASE3	c.142C>G	NM_002935.3	NP_002926.2:p.(Pro48Ala)	NC_000014.8:g.21359987C>G	(Likely) benign	1 lab	2f415de570
9:136419545 ADAMTSL2 G>A	9	136419545	136419545	G	A	ADAMTSL2	c.1006G>A	NM_014694.4	NP_055509.2:p.(Glu336Lys)	NC_000009.11:g.136419545G>A	(Likely) benign	1 lab	2f41befbdc
5:37182856 CPLANE1 G>C	5	37182856	37182856	G	C	CPLANE1	c.5421+6C>G	NM_001384732.1	NP_001371661.1:p.?	NC_000005.9:g.37182856G>C	(Likely) benign	1 lab	2f437d4acf
12:69045827 RAP1B G>T	12	69045827	69045827	G	T	RAP1B	c.179G>T	NM_001010942.3	NP_001010942.1:p.(Gly60Val)	NC_000012.11:g.69045827G>T	VUS	1 lab	2f452a069e
19:31769941 TSHZ3 C>T	19	31769941	31769941	C	T	TSHZ3	c.758G>A	NM_020856.4	NP_065907.2:p.(Arg253His)	NC_000019.9:g.31769941C>T	VUS	1 lab	2f469dd3b8
11:640003 DRD4 C>T	11	640003	640003	C	T	DRD4	c.754C>T	NM_000797.4	NP_000788.2:p.(Arg252Cys)	NC_000011.9:g.640003C>T	VUS	1 lab	2f490d9c95
5:70791234 BDP1 CTG>C	5	70791234	70791237	CTG	C	BDP1	c.1799+1_1799+2del	NM_018429.3	NP_060899.2:p.?	NC_000005.9:g.70791236_70791237del	(Likely) pathogenic	1 lab	2f4af7e12e
18:46784832 DYM C>T	18	46784832	46784832	C	T	DYM	c.1283G>A	NM_001353214.3	NP_001340143.1:p.(Arg428Gln)	NC_000018.9:g.46784832C>T	VUS	1 lab	2f5109b0d0
2:179542536 TTN TCTTCCTCAGG>T	2	179542536	179542546	TCTTCCTCAGG	T	TTN	c.34093_34102del	NM_001267550.2	NP_001254479.2:p.(Pro11365ArgfsTer100)	NC_000002.11:g.179542537_179542546del	VUS	1 lab	2f5247d714
7:21907590 DNAH11 C>T	7	21907590	21907590	C	T	DNAH11	c.11804C>T	NM_001277115.2	NP_001264044.1:p.(Pro3935Leu)	NC_000007.13:g.21907590C>T	VUS	1 lab	2f53aa39d2
16:88884454 GALNS G>A	16	88884454	88884454	G	A	GALNS	c.1443C>T	NM_000512.5	NP_000503.1:p.(Pro481=)	NC_000016.9:g.88884454G>A	(Likely) benign	1 lab	2f54a712ec
6:30632643 DHX16 G>C	6	30632643	30632643	G	C	DHX16	c.1252C>G	NM_003587.5	NP_003578.2:p.(Leu418Val)	NC_000006.11:g.30632643G>C	(Likely) benign	1 lab	2f54e983b4
15:91488116 UNC45A T>G	15	91488116	91488116	T	G	UNC45A	c.1028-6T>G	NM_018671.5	NP_061141.2:p.?	NC_000015.9:g.91488116T>G	VUS	1 lab	2f552a63ea
20:57415677 GNAS-AS1 C>G	20	57415677	57415677	C	G	GNAS-AS1	n.672+1315G>C	NR_185847.1		NC_000020.10:g.57415677C>G	(Likely) benign	1 lab	2f558f723b
2:145156479 ZEB2 T>C	2	145156479	145156479	T	C	ZEB2	c.2275A>G	NM_014795.4	NP_055610.1:p.(Arg759Gly)	NC_000002.11:g.145156479T>C	(Likely) benign	1 lab	2f56506687
8:140999048 TRAPPC9 C>A	8	140999048	140999048	C	A	TRAPPC9	c.2700-4G>T	NM_001160372.4	NP_001153844.1:p.?	NC_000008.10:g.140999048C>A	(Likely) benign	1 lab	2f573c7772
5:150931117 FAT2 C>T	5	150931117	150931117	C	T	FAT2	c.4207G>A	NM_001447.3	NP_001438.1:p.(Val1403Ile)	NC_000005.9:g.150931117C>T	(Likely) benign	1 lab	2f57f3b75f
12:31236769 DDX11 G>T	12	31236769	31236769	G	T	DDX11	c.167G>T	NM_030653.4	NP_085911.2:p.(Cys56Phe)	NC_000012.11:g.31236769G>T	VUS	1 lab	2f888e1476
1:11294219 MTOR T>TAGGA	1	11294219	11294223	T	TAGGA	MTOR	c.2311_2312insTCCT	NM_004958.4	NP_004949.1:p.(Tyr771PhefsTer20)	NC_000001.10:g.11294222_11294223insAAGG	VUS	1 lab	2f5808acb6
6:76599819 MYO6 C>G	6	76599819	76599819	C	G	MYO6	c.2704C>G	NM_004999.4	NP_004990.3:p.(Leu902Val)	NC_000006.11:g.76599819C>G	VUS	1 lab	1cd96909fe
17:36061160 HNF1B CTG>C	17	36061160	36061164	CTG	C	HNF1B	c.1360_1361del	NM_000458.4	NP_000449.1:p.(Gln454GlufsTer96)	NC_000017.10:g.36061163_36061164del	(Likely) pathogenic	1 lab	2f597f5a01
2:179518935 TTN C>A	2	179518935	179518935	C	A	TTN	c.38380G>T	NM_001267550.2	NP_001254479.2:p.(Val12794Leu)	NC_000002.11:g.179518935C>A	VUS	1 lab	2f5dd08438
X:149671660 MAMLD1 C>G	X	149671660	149671660	C	G	MAMLD1	c.2157C>G	NM_005491.5	NP_005482.2:p.(Ser719=)	NC_000023.10:g.149671660C>G	(Likely) benign	1 lab	2f5ebfaac2
6:51523984 PKHD1 T>G	6	51523984	51523984	T	G	PKHD1	c.10940A>C	NM_138694.4	NP_619639.3:p.(His3647Pro)	NC_000006.11:g.51523984T>G	VUS	1 lab	2f5f245279
1:7889983 PER3 CCA>C	1	7889983	7889985	CCA	C	PER3	c.2977_2978del	NM_001377275.1	NP_001364204.1:p.(His993SerfsTer89)	NC_000001.10:g.7889984_7889985del	VUS	1 lab	2f604aaf7e
X:104464066 IL1RAPL2 G>C	X	104464066	104464066	G	C	IL1RAPL2	c.357-14436G>C	NM_017416.2	NP_059112.1:p.?	NC_000023.10:g.104464066G>C	VUS	1 lab	2f610d5bb7
2:179599292 TTN C>T	2	179599292	179599292	C	T	TTN	c.15259G>A	NM_001267550.2	NP_001254479.2:p.(Val5087Met)	NC_000002.11:g.179599292C>T	VUS	1 lab	2f618c854c
6:28541507 SCAND3 T>C	6	28541507	28541507	T	C	SCAND3	c.2159A>G	NM_052923.2	NP_443155.1:p.(Tyr720Cys)	NC_000006.11:g.28541507T>C	VUS	1 lab	2f61d4918a
16:88925196 TRAPPC2L A>G	16	88925196	88925196	A	G	TRAPPC2L	c.203A>G	NM_001318525.2	NP_001305454.1:p.(Lys68Arg)	NC_000016.9:g.88925196A>G	VUS	1 lab	2f633a8c24
14:104643564 KIF26A G>A	14	104643564	104643564	G	A	KIF26A	c.4439G>A	NM_015656.2	NP_056471.1:p.(Cys1480Tyr)	NC_000014.8:g.104643564G>A	VUS	1 lab	2f644872fa
17:34588308 TBC1D3C G>A	17	34588308	34588308	G	A	TBC1D3C	c.220C>T	NM_001001418.6	NP_001001418.5:p.(Arg74Ter)	NC_000017.10:g.34588308G>A	VUS	1 lab	2f64f444fc
7:100271408 GNB2 C>T	7	100271408	100271408	C	T	GNB2	c.-228C>T	NM_005273.4	NP_005264.2:p.?	NC_000007.13:g.100271408C>T	(Likely) benign	1 lab	2f650b38d6
2:51254933 NRXN1 G>A	2	51254933	51254933	G	A	NRXN1	c.479C>T	NM_001330078.2	NP_001317007.1:p.(Pro160Leu)	NC_000002.11:g.51254933G>A	VUS	1 lab	2f667120bb
1:33237897 NHSL3 CAGTTA>C	1	33237897	33237902	CAGTTA	C	NHSL3	c.3118_3122del	NM_020888.3	NP_065939.2:p.(Ser1040ProfsTer4)	NC_000001.10:g.33237898_33237902del	(Likely) benign	1 lab	2f6b6e0c3b
1:45805880 TOE1 G>A	1	45805880	45805880	G	A	TOE1	c.-45G>A	NM_025077.4	NP_079353.3:p.?	NC_000001.10:g.45805880G>A	(Likely) benign	1 lab	2f6c21b494
11:2154813 IGF2 C>T	11	2154813	2154813	C	T	IGF2	c.240G>A	NM_000612.6	NP_000603.1:p.(Leu80=)	NC_000011.9:g.2154813C>T	(Likely) benign	1 lab	2f6c22d14f
17:80129601 CCDC57 C>T	17	80129601	80129601	C	T	CCDC57	c.1858G>A	NM_001394669.1	NP_001381598.1:p.(Val620Ile)	NC_000017.10:g.80129601C>T	(Likely) benign	1 lab	2f6d98e680
7:27239310 HOXA13 GGCGGCGGCTGCAGCGGCAGCCGCGGCAGCA>G	7	27239310	27239348	GGCGGCGGCTGCAGCGGCAGCCGCGGCAGCA	G	HOXA13	c.357_386del	NM_000522.5	NP_000513.2:p.(Ala124_Ala133del)	NC_000007.13:g.27239319_27239348del	(Likely) benign	1 lab	2f6eaf7e38
20:31292298 COMMD7 CAA>C	20	31292298	31292313	CAA	C	COMMD7	c.428-9_428-8del	NM_053041.3	NP_444269.2:p.?	NC_000020.10:g.31292312_31292313del	VUS	1 lab	2f6efd09f6
12:116428958 MED13L A>T	12	116428958	116428958	A	T	MED13L	c.3801T>A	NM_015335.5	NP_056150.1:p.(Asp1267Glu)	NC_000012.11:g.116428958A>T	(Likely) benign	1 lab	2f6f303957
7:102281060 UPK3BL1 G>A	7	102281060	102281060	G	A	UPK3BL1	c.273C>T	NM_001114403.3	NP_001107875.1:p.(Asn91=)	NC_000007.13:g.102281060G>A	VUS	1 lab	2f70a0d93b
X:101972156 GPRASP2 A>G	X	101972156	101972156	A	G	GPRASP2	c.2359A>G	NM_001004051.4	NP_001004051.1:p.(Ile787Val)	NC_000023.10:g.101972156A>G	VUS	1 lab	2f726bdb56
16:11550832 MISSING G>A	16	11550832	11550832	G	A	MISSING				NC_000016.9:g.11550832G>A	(Likely) benign	1 lab	2f729c4445
22:37465309 TMPRSS6 G>A	22	37465309	37465309	G	A	TMPRSS6	c.1917C>T	NM_001374504.1	NP_001361433.1:p.(Ser639=)	NC_000022.10:g.37465309G>A	VUS	1 lab	2f72fb0c36
4:1805573 FGFR3 T>TCTG	4	1805573	1805590	T	TCTG	FGFR3	c.1075+25_1075+27dup	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1805588_1805590dup	(Likely) benign	1 lab	2f7440eb11
16:2149889 PKD1 T>TA	16	2149889	2149890	T	TA	PKD1	c.9895dup	NM_001009944.3	NP_001009944.3:p.(Tyr3299LeufsTer91)	NC_000016.9:g.2149890dup	(Likely) pathogenic	1 lab	2f7465dff9
4:88535192 DSPP A>T	4	88535192	88535192	A	T	DSPP	c.1378A>T	NM_014208.3	NP_055023.2:p.(Met460Leu)	NC_000004.11:g.88535192A>T	(Likely) benign	1 lab	2f758d9d6e
19:4508906 PLIN4 G>A	19	4508906	4508906	G	A	PLIN4	c.3576C>T	NM_001367868.2	NP_001354797.1:p.(Phe1192=)	NC_000019.9:g.4508906G>A	(Likely) benign	1 lab	2f75964b99
9:13150563 MPDZ C>G	9	13150563	13150563	C	G	MPDZ	c.3577G>C	NM_001378778.1	NP_001365707.1:p.(Asp1193His)	NC_000009.11:g.13150563C>G	VUS	1 lab	2f760f4779
12:117014105 MAP1LC3B2 G>A	12	117014105	117014105	G	A	MAP1LC3B2	c.358G>A	NM_001085481.3	NP_001078950.1:p.(Gly120Arg)	NC_000012.11:g.117014105G>A	VUS	1 lab	1cda0a9c1f
4:5577999 EVC2 CT>C	4	5577999	5578001	CT	C	EVC2	c.3239del	NM_147127.5	NP_667338.3:p.(Lys1080ArgfsTer13)	NC_000004.11:g.5578001del	(Likely) pathogenic	1 lab	2f79bfc269
3:180397086 CCDC39 T>G	3	180397086	180397086	T	G	CCDC39	c.83A>C	NM_181426.2	NP_852091.1:p.(Glu28Ala)	NC_000003.11:g.180397086T>G	VUS	1 lab	2f7eee6bb0
2:152276772 RIF1 T>C	2	152276772	152276772	T	C	RIF1	c.572T>C	NM_018151.5	NP_060621.3:p.(Leu191Ser)	NC_000002.11:g.152276772T>C	(Likely) benign	1 lab	2f81ffde4e
1:8418556 RERE A>C	1	8418556	8418556	A	C	RERE	c.4039T>G	NM_001042681.2	NP_001036146.1:p.(Phe1347Val)	NC_000001.10:g.8418556A>C	VUS	1 lab	2f825fe1f2
6:147073671 ADGB C>T	6	147073671	147073671	C	T	ADGB	c.3371C>T	NM_024694.4	NP_078970.3:p.(Ser1124Leu)	NC_000006.11:g.147073671C>T	(Likely) benign	1 lab	2f828d91d9
20:60899191 LAMA5 C>T	20	60899191	60899191	C	T	LAMA5	c.5713G>A	NM_005560.6	NP_005551.3:p.(Asp1905Asn)	NC_000020.10:g.60899191C>T	(Likely) benign	1 lab	2f8311fa73
6:87968005 ZNF292 C>T	6	87968005	87968005	C	T	ZNF292	c.4658C>T	NM_015021.3	NP_055836.1:p.(Thr1553Met)	NC_000006.11:g.87968005C>T	VUS	1 lab	1cda3d651d
7:19156653 TWIST1 C>CGCCGCCGCTGCTGCT	7	19156653	19156676	C	CGCCGCCGCTGCTGCT	TWIST1	c.277_291dup	NM_000474.4	NP_000465.1:p.(Ser93_Gly97dup)	NC_000007.13:g.19156662_19156676dup	VUS	1 lab	2f85cf87be
3:13671392 FBLN2 G>A	3	13671392	13671392	G	A	FBLN2	c.2915G>A	NM_001004019.2	NP_001004019.1:p.(Arg972His)	NC_000003.11:g.13671392G>A	VUS	1 lab	2f8719e28c
10:94408115 KIF11 TAATG>T	10	94408115	94408121	TAATG	T	KIF11	c.2697_2700del	NM_004523.4	NP_004514.2:p.(Asn899LysfsTer3)	NC_000010.10:g.94408118_94408121del	(Likely) pathogenic	1 lab	2f883c8f74
13:77900909 MYCBP2 A>C	13	77900909	77900909	A	C	MYCBP2	c.2T>G	NM_015057.5	NP_055872.4:p.(Met1?)	NC_000013.10:g.77900909A>C	(Likely) benign	1 lab	2f888e4574
5:113819112 KCNN2 C>A	5	113819112	113819112	C	A	KCNN2	c.1891-3635C>A	NM_021614.4	NP_067627.3:p.?	NC_000005.9:g.113819112C>A	(Likely) benign	1 lab	2f896388cb
13:103257170 TPP2 G>A	13	103257170	103257170	G	A	TPP2	c.193G>A	NM_001330588.2	NP_001317517.1:p.(Val65Ile)	NC_000013.10:g.103257170G>A	(Likely) benign	1 lab	2f89ae41b7
11:103069944 DYNC2H1 A>AT	11	103069944	103069951	A	AT	DYNC2H1	c.7840-6dup	NM_001377.3	NP_001368.2:p.?	NC_000011.9:g.103069951dup	(Likely) benign	1 lab	2f8ce18180
19:50921074 POLD1 A>ACCCTGCCCCTGC	19	50921074	50921089	A	ACCCTGCCCCTGC	POLD1	c.3219-21_3219-10dup	NM_002691.4	NP_002682.2:p.?	NC_000019.9:g.50921078_50921089dup	(Likely) benign	1 lab	2f8d25d2bb
9:135942349 CEL A>T	9	135942349	135942349	A	T	CEL	c.777+17A>T	NM_001807.6	NP_001798.3:p.?	NC_000009.11:g.135942349A>T	(Likely) benign	1 lab	2f8e8a0da8
4:6302971 WFS1 C>T	4	6302971	6302971	C	T	WFS1	c.1449C>T	NM_006005.3	NP_005996.2:p.(Val483=)	NC_000004.11:g.6302971C>T	(Likely) benign	1 lab	2f8f2a9a95
8:135614842 ZFAT G>A	8	135614842	135614842	G	A	ZFAT	c.1120C>T	NM_020863.4	NP_065914.2:p.(Arg374Ter)	NC_000008.10:g.135614842G>A	VUS	1 lab	2f9139efe7
13:77671813 MYCBP2 G>T	13	77671813	77671813	G	T	MYCBP2	c.9476C>A	NM_015057.5	NP_055872.4:p.(Thr3159Asn)	NC_000013.10:g.77671813G>T	VUS	1 lab	2f92748dae
5:127653907 FBN2 G>C	5	127653907	127653907	G	C	FBN2	c.4651C>G	NM_001999.4	NP_001990.2:p.(Pro1551Ala)	NC_000005.9:g.127653907G>C	VUS	1 lab	2f93103c0c
22:45937102 FBLN1 G>A	22	45937102	45937102	G	A	FBLN1	c.923-7G>A	NM_006486.3	NP_006477.3:p.?	NC_000022.10:g.45937102G>A	(Likely) benign	1 lab	2f933b4c8d
8:77764069 ZFHX4 A>G	8	77764069	77764069	A	G	ZFHX4	c.4912A>G	NM_024721.5	NP_078997.4:p.(Ile1638Val)	NC_000008.10:g.77764069A>G	VUS	1 lab	2f9399f2fd
16:81301694 BCO1 A>T	16	81301694	81301694	A	T	BCO1	c.801A>T	NM_017429.3	NP_059125.2:p.(Arg267Ser)	NC_000016.9:g.81301694A>T	(Likely) benign	1 lab	1cda62ff4a
10:78977322 KCNMA1 G>A	10	78977322	78977322	G	A	KCNMA1	c.603-32648C>T	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78977322G>A	(Likely) benign	1 lab	2f95e9b5fd
1:176564490 PAPPA2 G>A	1	176564490	176564490	G	A	PAPPA2	c.1750G>A	NM_020318.3	NP_064714.2:p.(Val584Met)	NC_000001.10:g.176564490G>A	(Likely) benign	1 lab	2f960ac197
12:52960926 KRT74 A>G	12	52960926	52960926	A	G	KRT74	c.1417T>C	NM_175053.4	NP_778223.2:p.(Tyr473His)	NC_000012.11:g.52960926A>G	VUS	1 lab	1cdd3babed
7:91830695 KRIT1 A>G	7	91830695	91830695	A	G	KRIT1	c.2068T>C	NM_194454.3	NP_919436.1:p.(Leu690=)	NC_000007.13:g.91830695A>G	(Likely) benign	1 lab	2f96d5e00f
11:6048744 OR56A1 T>A	11	6048744	6048744	T	A	OR56A1	c.179A>T	NM_001388488.1	NP_001375417.1:p.(Gln60Leu)	NC_000011.9:g.6048744T>A	VUS	1 lab	2f988db3b5
6:88226602 RARS2 A>G	6	88226602	88226602	A	G	RARS2	c.1512-4T>C	NM_020320.5	NP_064716.2:p.?	NC_000006.11:g.88226602A>G	VUS	1 lab	2f99c6df40
6:43738475 VEGFA G>A	6	43738475	43738475	G	A	VEGFA	c.32G>A	NM_003376.6	NP_003367.4:p.(Ser11Asn)	NC_000006.11:g.43738475G>A	VUS	1 lab	2f99da560f
17:80054338 FASN G>A	17	80054338	80054338	G	A	FASN	c.-7-10C>T	NM_004104.5	NP_004095.4:p.?	NC_000017.10:g.80054338G>A	(Likely) benign	1 lab	2f9da3693a
X:49368394 GAGE1 AAGGT>A	X	49368394	49368401	AAGGT	A	GAGE1	c.331+2_331+5del	NM_001040663.4	NP_001035753.1:p.?	NC_000023.10:g.49368398_49368401del	(Likely) benign	1 lab	2f9f6e13fd
1:19559507 EMC1 CA>C	1	19559507	19559508	CA	C	EMC1	c.1554del	NM_015047.3	NP_055862.1:p.(Asn518LysfsTer18)	NC_000001.10:g.19559508del	VUS	1 lab	2fa0843f50
12:23689597 SOX5 C>T	12	23689597	23689597	C	T	SOX5	c.1778G>A	NM_006940.6	NP_008871.3:p.(Arg593His)	NC_000012.11:g.23689597C>T	(Likely) pathogenic	1 lab	2fa1e39455
3:183963351 ALG3 G>A	3	183963351	183963351	G	A	ALG3	c.349C>T	NM_005787.6	NP_005778.1:p.(Arg117Ter)	NC_000003.11:g.183963351G>A	(Likely) pathogenic	1 lab	2fa39c102f
15:52564923 MYO5C A>G	15	52564923	52564923	A	G	MYO5C	c.607-3T>C	NM_018728.4	NP_061198.2:p.?	NC_000015.9:g.52564923A>G	(Likely) benign	1 lab	2fa40fe396
14:23858876 MYH6 C>T	14	23858876	23858876	C	T	MYH6	c.3785G>A	NM_002471.4	NP_002462.2:p.(Arg1262His)	NC_000014.8:g.23858876C>T	VUS	1 lab	2fa4cb9e76
1:1223058 SCNN1D G>A	1	1223058	1223058	G	A	SCNN1D	c.1405G>A	NM_001130413.4	NP_001123885.2:p.(Gly469Ser)	NC_000001.10:g.1223058G>A	VUS	1 lab	2fa510ef1a
22:41923388 POLR3H C>T	22	41923388	41923388	C	T	POLR3H	c.*1899G>A	NM_001018050.4	NP_001018060.1:p.?	NC_000022.10:g.41923388C>T	(Likely) pathogenic	1 lab	2fa5413884
19:4508955 PLIN4 G>A	19	4508955	4508955	G	A	PLIN4	c.3527C>T	NM_001367868.2	NP_001354797.1:p.(Ala1176Val)	NC_000019.9:g.4508955G>A	VUS	1 lab	2fa6a22786
2:179397764 TTN C>A	2	179397764	179397764	C	A	TTN	c.103578G>T	NM_001267550.2	NP_001254479.2:p.(Glu34526Asp)	NC_000002.11:g.179397764C>A	VUS	1 lab	1ce2406b14
1:200959408 KIF21B C>T	1	200959408	200959408	C	T	KIF21B	c.2888G>A	NM_001252102.2	NP_001239031.1:p.(Arg963Gln)	NC_000001.10:g.200959408C>T	(Likely) benign	1 lab	2fa7f2d930
6:129470152 LAMA2 CAT>C	6	129470152	129470154	CAT	C	LAMA2	c.939_940del	NM_000426.4	NP_000417.3:p.(Cys314TrpfsTer3)	NC_000006.11:g.129470153_129470154del	(Likely) pathogenic	1 lab	2fa8efe7e1
16:3789255 CREBBP C>T	16	3789255	3789255	C	T	CREBBP	c.4280+324G>A	NM_004380.3	NP_004371.2:p.?	NC_000016.9:g.3789255C>T	(Likely) benign	1 lab	2fa99927e2
2:166854780 SCN1A T>TA	2	166854780	166854781	T	TA	SCN1A	c.4339-96dup	NM_001165963.3	NP_001159435.1:p.?	NC_000002.11:g.166854781dup	(Likely) benign	1 lab	1d3972627e
X:64722430 ZC3H12B C>T	X	64722430	64722430	C	T	ZC3H12B	c.1852C>T	NM_001010888.4	NP_001010888.3:p.(Arg618Cys)	NC_000023.10:g.64722430C>T	VUS	1 lab	2faa578978
5:176722221 NSD1 G>A	5	176722221	176722221	G	A	NSD1	c.7852G>A	NM_022455.5	NP_071900.2:p.(Val2618Ile)	NC_000005.9:g.176722221G>A	(Likely) benign	1 lab	2faa7475cb
19:51169794 SHANK1 G>A	19	51169794	51169794	G	A	SHANK1	c.5423C>T	NM_016148.5	NP_057232.2:p.(Thr1808Met)	NC_000019.9:g.51169794G>A	(Likely) benign	1 lab	2fab4ec554
3:52406351 DNAH1 C>T	3	52406351	52406351	C	T	DNAH1	c.6775C>T	NM_015512.5	NP_056327.4:p.(Arg2259Cys)	NC_000003.11:g.52406351C>T	VUS	1 lab	1ce3032406
6:32191658 NOTCH4 TAGCAGCAGCAGCAGC>T	6	32191658	32191690	TAGCAGCAGCAGCAGC	T	NOTCH4	c.33_47del	NM_004557.4	NP_004548.3:p.(Leu12_Leu16del)	NC_000006.11:g.32191676_32191690del	VUS	1 lab	2fae84bcbf
19:7267337 INSR C>A	19	7267337	7267337	C	A	INSR	c.652+19G>T	NM_000208.4	NP_000199.2:p.?	NC_000019.9:g.7267337C>A	(Likely) benign	1 lab	2faed882dc
3:129814992 ALG1L2 C>T	3	129814992	129814992	C	T	ALG1L2	c.525C>T	NM_001136152.1	NP_001129624.1:p.(Ala175=)	NC_000003.11:g.129814992C>T	(Likely) benign	1 lab	2faf6d8c73
1:115262366 CSDE1 G>GA	1	115262366	115262376	G	GA	CSDE1	c.2053-4dup	NM_001007553.3	NP_001007554.1:p.?	NC_000001.10:g.115262376dup	(Likely) benign	1 lab	2fb04c46a2
11:46900686 LRP4 G>A	11	46900686	46900686	G	A	LRP4	c.2995C>T	NM_002334.4	NP_002325.2:p.(Arg999Trp)	NC_000011.9:g.46900686G>A	VUS	1 lab	2fb0ac4030
1:154561108 ADAR G>A	1	154561108	154561108	G	A	ADAR	c.2804C>T	NM_001111.5	NP_001102.3:p.(Ala935Val)	NC_000001.10:g.154561108G>A	VUS	1 lab	2fb214b663
2:220329166 SPEG G>A	2	220329166	220329166	G	A	SPEG	c.2717G>A	NM_005876.5	NP_005867.3:p.(Arg906His)	NC_000002.11:g.220329166G>A	VUS	1 lab	2fb2752c0c
12:106820987 POLR3B C>T	12	106820987	106820987	C	T	POLR3B	c.1114C>T	NM_018082.6	NP_060552.4:p.(Leu372Phe)	NC_000012.11:g.106820987C>T	(Likely) benign	1 lab	2fb3370104
16:1842130 IGFALS G>A	16	1842130	1842130	G	A	IGFALS	c.289C>T	NM_004970.3	NP_004961.1:p.(Leu97Phe)	NC_000016.9:g.1842130G>A	(Likely) benign	1 lab	2fb4522297
10:81052009 ZMIZ1 GCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTA>G	10	81052009	81052046	GCAGCGGCAGTGGCAGCAGCAGCAGCCACAGCTA	G	ZMIZ1	c.858_890del	NM_020338.4	NP_065071.1:p.(Ala287_Ala297del)	NC_000010.10:g.81052014_81052046del	VUS	1 lab	2fb453a022
3:143412075 SLC9A9 T>A	3	143412075	143412075	T	A	SLC9A9	c.608A>T	NM_173653.4	NP_775924.1:p.(Asp203Val)	NC_000003.11:g.143412075T>A	VUS	1 lab	2fb5a6e20a
14:102499640 DYNC1H1 C>T	14	102499640	102499640	C	T	DYNC1H1	c.10232C>T	NM_001376.5	NP_001367.2:p.(Pro3411Leu)	NC_000014.8:g.102499640C>T	(Likely) pathogenic	1 lab	1ce5081521
5:77524065 AP3B1 T>TG	5	77524065	77524066	T	TG	AP3B1	c.280-3dup	NM_003664.4	NP_003655.3:p.?	NC_000005.9:g.77524066dup	(Likely) benign	1 lab	1d3be37a21
12:49445638 KMT2D G>C	12	49445638	49445638	G	C	KMT2D	c.1828C>G	NM_003482.4	NP_003473.3:p.(Pro610Ala)	NC_000012.11:g.49445638G>C	VUS	1 lab	2fbbdbd402
13:101910898 NALCN T>C	13	101910898	101910898	T	C	NALCN	c.1162A>G	NM_052867.4	NP_443099.1:p.(Met388Val)	NC_000013.10:g.101910898T>C	VUS	1 lab	1ce830f79b
11:117299160 DSCAML1 G>T	11	117299160	117299160	G	T	DSCAML1	c.6046C>A	NM_020693.4	NP_065744.3:p.(Pro2016Thr)	NC_000011.9:g.117299160G>T	(Likely) benign	1 lab	2fbd11ff1d
1:207818658 CR1L T>G	1	207818658	207818658	T	G	CR1L	c.80T>G	NM_175710.2	NP_783641.1:p.(Leu27Arg)	NC_000001.10:g.207818658T>G	VUS	1 lab	2fbdc8c521
9:116346442 RGS3 G>A	9	116346442	116346442	G	A	RGS3	c.2414G>A	NM_001394167.1	NP_001381096.1:p.(Ser805Asn)	NC_000009.11:g.116346442G>A	VUS	1 lab	2fbdf9bdda
20:62196216 HELZ2 A>G	20	62196216	62196216	A	G	HELZ2	c.3959T>C	NM_001037335.2	NP_001032412.2:p.(Leu1320Pro)	NC_000020.10:g.62196216A>G	(Likely) benign	1 lab	2fbef46ea8
19:30500118 URI1 GTGATGA>G	19	30500118	30500145	GTGATGA	G	URI1	c.915_920del	NM_003796.3	NP_003787.2:p.(Asp310_Asp311del)	NC_000019.9:g.30500140_30500145del	VUS	1 lab	2fc072ac37
2:73677690 ALMS1 C>G	2	73677690	73677690	C	G	ALMS1	c.4039C>G	NM_015120.4	NP_055935.4:p.(Gln1347Glu)	NC_000002.11:g.73677690C>G	(Likely) benign	1 lab	1d3d46647d
2:220349385 SPEG C>A	2	220349385	220349385	C	A	SPEG	c.7200C>A	NM_005876.5	NP_005867.3:p.(Val2400=)	NC_000002.11:g.220349385C>A	(Likely) benign	1 lab	2fc3019452
15:83357988 AP3B2 G>A	15	83357988	83357988	G	A	AP3B2	c.190-4C>T	NM_001278512.2	NP_001265441.1:p.?	NC_000015.9:g.83357988G>A	(Likely) benign	1 lab	2fc6f53ebb
1:152278559 FLG C>T	1	152278559	152278559	C	T	FLG	c.8803G>A	NM_002016.2	NP_002007.1:p.(Glu2935Lys)	NC_000001.10:g.152278559C>T	VUS	1 lab	2fc7f9b629
17:78064128 CCDC40 A>G	17	78064128	78064128	A	G	CCDC40	c.2832+445A>G	NM_017950.4	NP_060420.2:p.?	NC_000017.10:g.78064128A>G	VUS	1 lab	3140e745d2
19:15364525 BRD4 C>T	19	15364525	15364525	C	T	BRD4	c.2158+438G>A	NM_001379291.1	NP_001366220.1:p.?	NC_000019.9:g.15364525C>T	(Likely) benign	1 lab	2fc83f0f27
11:118624262 DDX6 T>C	11	118624262	118624262	T	C	DDX6	c.*7+1152A>G	NM_004397.6	NP_004388.2:p.?	NC_000011.9:g.118624262T>C	(Likely) benign	1 lab	2fc895def2
11:44165889 EXT2 G>A	11	44165889	44165889	G	A	EXT2	c.1173+14201G>A	NM_207122.2	NP_997005.1:p.?	NC_000011.9:g.44165889G>A	(Likely) benign	1 lab	2fc8e2e659
2:174097067 MAP3K20 G>A	2	174097067	174097067	G	A	MAP3K20	c.1083G>A	NM_016653.3	NP_057737.2:p.(Met361Ile)	NC_000002.11:g.174097067G>A	VUS	1 lab	2fcb2672fe
17:62034770 SCN4A T>C	17	62034770	62034770	T	C	SCN4A	c.2128A>G	NM_000334.4	NP_000325.4:p.(Ile710Val)	NC_000017.10:g.62034770T>C	VUS	1 lab	2fcc2a42b5
3:150947506 MED12L G>A	3	150947506	150947506	G	A	MED12L	c.2250+36053G>A	NM_001393769.1	NP_001380698.1:p.?	NC_000003.11:g.150947506G>A	(Likely) benign	1 lab	2fccbd0dbe
17:4848234 RNF167 C>G	17	4848234	4848234	C	G	RNF167	c.976C>G	NM_015528.3	NP_056343.1:p.(Pro326Ala)	NC_000017.10:g.4848234C>G	VUS	1 lab	307a05a4d8
1:154247434 HAX1 T>G	1	154247434	154247434	T	G	HAX1	c.513T>G	NM_006118.4	NP_006109.2:p.(Asp171Glu)	NC_000001.10:g.154247434T>G	VUS	1 lab	2fd0c27f08
21:45826645 TRPM2 G>C	21	45826645	45826645	G	C	TRPM2	c.2959G>C	NM_003307.4	NP_003298.2:p.(Asp987His)	NC_000021.8:g.45826645G>C	VUS	1 lab	2fd4992e23
14:94044213 UNC79 G>A	14	94044213	94044213	G	A	UNC79	c.2237G>A	NM_001395159.1	NP_001382088.1:p.(Arg746Gln)	NC_000014.8:g.94044213G>A	(Likely) benign	1 lab	2fd4c9960d
19:36322018 NPHS1 G>A	19	36322018	36322018	G	A	NPHS1	c.3418C>T	NM_004646.4	NP_004637.1:p.(Arg1140Cys)	NC_000019.9:g.36322018G>A	VUS	1 lab	2fd6111f51
11:62396263 GANAB G>A	11	62396263	62396263	G	A	GANAB	c.2158C>T	NM_198334.3	NP_938148.1:p.(Arg720Trp)	NC_000011.9:g.62396263G>A	(Likely) benign	1 lab	2fd742fbfe
2:233393601 CHRND C>A	2	233393601	233393601	C	A	CHRND	c.539C>A	NM_000751.3	NP_000742.1:p.(Thr180Asn)	NC_000002.11:g.233393601C>A	VUS	1 lab	2fd865e031
19:15298031 NOTCH3 C>G	19	15298031	15298031	C	G	NOTCH3	c.1725G>C	NM_000435.3	NP_000426.2:p.(Thr575=)	NC_000019.9:g.15298031C>G	(Likely) benign	1 lab	2fd9a2120b
1:151378257 POGZ G>A	1	151378257	151378257	G	A	POGZ	c.3254C>T	NM_015100.4	NP_055915.2:p.(Ala1085Val)	NC_000001.10:g.151378257G>A	(Likely) benign	1 lab	2fdb7b72ab
X:114541256 LUZP4 C>G	X	114541256	114541256	C	G	LUZP4	c.829C>G	NM_016383.5	NP_057467.1:p.(Gln277Glu)	NC_000023.10:g.114541256C>G	(Likely) benign	1 lab	2fdc393ae9
1:984255 AGRN G>A	1	984255	984255	G	A	AGRN	c.4114G>A	NM_198576.4	NP_940978.2:p.(Ala1372Thr)	NC_000001.10:g.984255G>A	VUS	1 lab	2fded3aabc
4:119273596 PRSS12 G>T	4	119273596	119273596	G	T	PRSS12	c.280C>A	NM_003619.4	NP_003610.2:p.(Pro94Thr)	NC_000004.11:g.119273596G>T	VUS	1 lab	2fe0047ea7
15:44864974 SPG11 G>A	15	44864974	44864974	G	A	SPG11	c.6250C>T	NM_025137.4	NP_079413.3:p.(Leu2084Phe)	NC_000015.9:g.44864974G>A	VUS	1 lab	2fe2494cdb
X:50378634 SHROOM4 G>A	X	50378634	50378634	G	A	SHROOM4	c.439C>T	NM_020717.5	NP_065768.2:p.(His147Tyr)	NC_000023.10:g.50378634G>A	(Likely) benign	1 lab	2fe29433e3
16:30518181 ITGAL G>A	16	30518181	30518181	G	A	ITGAL	c.2508+4G>A	NM_002209.3	NP_002200.2:p.?	NC_000016.9:g.30518181G>A	(Likely) benign	1 lab	2fe6789747
18:32386223 DTNA G>T	18	32386223	32386223	G	T	DTNA	c.403G>T	NM_001386795.1	NP_001373724.1:p.(Ala135Ser)	NC_000018.9:g.32386223G>T	VUS	1 lab	2fe761a393
2:200213767 SATB2 T>A	2	200213767	200213767	T	A	SATB2	c.830A>T	NM_001172509.2	NP_001165980.1:p.(His277Leu)	NC_000002.11:g.200213767T>A	VUS	1 lab	2fe96fbcc1
9:139091724 LHX3 C>A	9	139091724	139091724	C	A	LHX3	c.254G>T	NM_178138.6	NP_835258.1:p.(Arg85Leu)	NC_000009.11:g.139091724C>A	VUS	1 lab	2fea8ecd54
X:11317086 AMELX A>C	X	11317086	11317086	A	C	AMELX	c.563A>C	NM_001142.2	NP_001133.1:p.(Glu188Ala)	NC_000023.10:g.11317086A>C	VUS	1 lab	2fec4ea51b
17:63533766 AXIN2 C>G	17	63533766	63533766	C	G	AXIN2	c.1388G>C	NM_004655.4	NP_004646.3:p.(Arg463Pro)	NC_000017.10:g.63533766C>G	VUS	1 lab	2fec6a0333
19:1462121 APC2 G>A	19	1462121	1462121	G	A	APC2	c.1798G>A	NM_005883.3	NP_005874.1:p.(Gly600Ser)	NC_000019.9:g.1462121G>A	VUS	1 lab	2fec7ffecc
7:42005697 GLI3 GGTGGCGCCGCCCGTAGCC>G	7	42005697	42005719	GGTGGCGCCGCCCGTAGCC	G	GLI3	c.2956_2973del	NM_000168.6	NP_000159.3:p.(Gly986_His991del)	NC_000007.13:g.42005702_42005719del	VUS	1 lab	2ff0192aea
21:35147084 ITSN1 C>T	21	35147084	35147084	C	T	ITSN1	c.1357C>T	NM_003024.3	NP_003015.2:p.(Arg453Ter)	NC_000021.8:g.35147084C>T	(Likely) pathogenic	1 lab	2ff12f8bb7
6:26124738 H2AC6 A>C	6	26124738	26124738	A	C	H2AC6	c.278A>C	NM_003512.4	NP_003503.1:p.(Glu93Ala)	NC_000006.11:g.26124738A>C	VUS	1 lab	2ff14a80da
3:186360305 FETUB A>G	3	186360305	186360305	A	G	FETUB	c.382A>G	NM_014375.3	NP_055190.2:p.(Arg128Gly)	NC_000003.11:g.186360305A>G	(Likely) benign	1 lab	2ff21865cb
22:26422712 MYO18B C>T	22	26422712	26422712	C	T	MYO18B	c.6772C>T	NM_032608.7	NP_115997.5:p.(Arg2258Trp)	NC_000022.10:g.26422712C>T	VUS	1 lab	2ff24eb495
15:33446302 FMN1 T>C	15	33446302	33446302	T	C	FMN1	c.814A>G	NM_001277313.2	NP_001264242.1:p.(Ser272Gly)	NC_000015.9:g.33446302T>C	(Likely) benign	1 lab	2ff5101df6
X:17750274 NHS C>A	X	17750274	17750274	C	A	NHS	c.4646C>A	NM_001291867.2	NP_001278796.1:p.(Pro1549His)	NC_000023.10:g.17750274C>A	VUS	1 lab	2ff5d8bf9a
1:204380191 PPP1R15B C>G	1	204380191	204380191	C	G	PPP1R15B	c.349G>C	NM_032833.5	NP_116222.4:p.(Ala117Pro)	NC_000001.10:g.204380191C>G	VUS	1 lab	2ff892861e
8:77775544 ZFHX4 G>T	8	77775544	77775544	G	T	ZFHX4	c.9594G>T	NM_024721.5	NP_078997.4:p.(Lys3198Asn)	NC_000008.10:g.77775544G>T	VUS	1 lab	2ff8de965b
19:13325144 CACNA1A G>A	19	13325144	13325144	G	A	CACNA1A	c.5843C>T	NM_001127222.2	NP_001120694.1:p.(Thr1948Met)	NC_000019.9:g.13325144G>A	VUS	1 lab	1ceb034991
16:1818236 MAPK8IP3 G>A	16	1818236	1818236	G	A	MAPK8IP3	c.3599G>A	NM_001318852.2	NP_001305781.1:p.(Arg1200His)	NC_000016.9:g.1818236G>A	VUS	1 lab	2ffaa828bd
17:26881942 PIGS G>A	17	26881942	26881942	G	A	PIGS	c.1319C>T	NM_033198.4	NP_149975.1:p.(Thr440Ile)	NC_000017.10:g.26881942G>A	VUS	1 lab	2ffd4da5b6
3:49153232 USP19 G>C	3	49153232	49153232	G	C	USP19	c.1617C>G	NM_001199161.2	NP_001186090.1:p.(Asp539Glu)	NC_000003.11:g.49153232G>C	VUS	1 lab	2ffda39cdb
20:62326728 RTEL1 T>A	20	62326728	62326728	T	A	RTEL1	c.3547T>A	NM_001283009.2	NP_001269938.1:p.(Ser1183Thr)	NC_000020.10:g.62326728T>A	(Likely) benign	1 lab	2ffded05b0
13:102375254 FGF14 G>A	13	102375254	102375254	G	A	FGF14	c.671C>T	NM_004115.4	NP_004106.1:p.(Thr224Met)	NC_000013.10:g.102375254G>A	VUS	1 lab	2ffe5b55fb
9:140712582 EHMT1 G>A	9	140712582	140712582	G	A	EHMT1	c.3532G>A	NM_024757.5	NP_079033.4:p.(Asp1178Asn)	NC_000009.11:g.140712582G>A	VUS	1 lab	3000728e4e
10:101590166 ABCC2 G>A	10	101590166	101590166	G	A	ABCC2	c.2723G>A	NM_000392.5	NP_000383.2:p.(Ser908Asn)	NC_000010.10:g.101590166G>A	VUS	1 lab	1d3d8fc1da
22:30735213 SF3A1 T>C	22	30735213	30735213	T	C	SF3A1	c.1403A>G	NM_005877.6	NP_005868.1:p.(Gln468Arg)	NC_000022.10:g.30735213T>C	VUS	1 lab	3003360226
6:105219073 HACE1 T>C	6	105219073	105219073	T	C	HACE1	c.2206A>G	NM_020771.4	NP_065822.2:p.(Asn736Asp)	NC_000006.11:g.105219073T>C	VUS	1 lab	30041731f6
14:94103582 UNC79 C>T	14	94103582	94103582	C	T	UNC79	c.6070C>T	NM_001395159.1	NP_001382088.1:p.(Arg2024Cys)	NC_000014.8:g.94103582C>T	(Likely) benign	1 lab	3008025c39
9:139391265 NOTCH1 T>C	9	139391265	139391265	T	C	NOTCH1	c.6926A>G	NM_017617.5	NP_060087.3:p.(Glu2309Gly)	NC_000009.11:g.139391265T>C	VUS	1 lab	3009fe58d0
19:36212327 KMT2B C>T	19	36212327	36212327	C	T	KMT2B	c.2078C>T	NM_014727.3	NP_055542.1:p.(Pro693Leu)	NC_000019.9:g.36212327C>T	(Likely) benign	1 lab	300b83973d
2:36775698 CRIM1 G>T	2	36775698	36775698	G	T	CRIM1	c.2965G>T	NM_016441.3	NP_057525.1:p.(Val989Leu)	NC_000002.11:g.36775698G>T	VUS	1 lab	300c8e0cf0
6:41565544 FOXP4 CCCT>C	6	41565544	41565551	CCCT	C	FOXP4	c.1756_1758del	NM_001012426.2	NP_001012426.1:p.(Leu586del)	NC_000006.11:g.41565549_41565551del	VUS	1 lab	300e170b7a
12:121426803 HNF1A G>A	12	121426803	121426803	G	A	HNF1A	c.494G>A	NM_000545.8	NP_000536.6:p.(Trp165Ter)	NC_000012.11:g.121426803G>A	(Likely) pathogenic	1 lab	300ec921d9
15:99465623 IGF1R C>T	15	99465623	99465623	C	T	IGF1R	c.2448C>T	NM_000875.5	NP_000866.1:p.(Ser816=)	NC_000015.9:g.99465623C>T	(Likely) benign	1 lab	301037c7c7
4:88537312 DSPP C>T	4	88537312	88537312	C	T	DSPP	c.3498C>T	NM_014208.3	NP_055023.2:p.(Ser1166=)	NC_000004.11:g.88537312C>T	(Likely) benign	1 lab	3010b3982b
21:47855989 PCNT T>C	21	47855989	47855989	T	C	PCNT	c.8924T>C	NM_006031.6	NP_006022.3:p.(Leu2975Pro)	NC_000021.8:g.47855989T>C	(Likely) benign	1 lab	30129aee34
19:44242286 SMG9 G>C	19	44242286	44242286	G	C	SMG9	c.897C>G	NM_019108.4	NP_061981.2:p.(Tyr299Ter)	NC_000019.9:g.44242286G>C	VUS	1 lab	301303782c
X:8434166 VCX3B GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA>G	X	8434166	8434277	GGAACCACTGAGTCAGGAGAGCGAGGTGGAAGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGGTGGAA	G	VCX3B	c.505_594del	NM_001001888.4	NP_001001888.3:p.(Glu169_Ser198del)	NC_000023.10:g.8434188_8434277del	(Likely) benign	1 lab	30132eb460
2:48132725 FBXO11 AGGCTGCTGCTGGGGC>A	2	48132725	48132761	AGGCTGCTGCTGGGGC	A	FBXO11	c.120_134del	NM_001190274.2	NP_001177203.1:p.(Gln42_Pro46del)	NC_000002.11:g.48132747_48132761del	(Likely) benign	1 lab	3014850160
1:201186501 IGFN1 G>A	1	201186501	201186501	G	A	IGFN1	c.9682G>A	NM_001164586.2	NP_001158058.1:p.(Gly3228Ser)	NC_000001.10:g.201186501G>A	(Likely) benign	1 lab	30148ce1ed
1:237777609 RYR2 C>A	1	237777609	237777609	C	A	RYR2	c.5181C>A	NM_001035.3	NP_001026.2:p.(Val1727=)	NC_000001.10:g.237777609C>A	(Likely) benign	1 lab	1d3f239ccd
2:69581414 GFPT1 C>T	2	69581414	69581414	C	T	GFPT1	c.716G>A	NM_001244710.2	NP_001231639.1:p.(Arg239Gln)	NC_000002.11:g.69581414C>T	(Likely) benign	1 lab	301636a8c0
6:42974719 PPP2R5D C>T	6	42974719	42974719	C	T	PPP2R5D	c.393C>T	NM_006245.4	NP_006236.1:p.(Phe131=)	NC_000006.11:g.42974719C>T	VUS	1 lab	30b84ba899
1:35227239 GJB4 G>A	1	35227239	35227239	G	A	GJB4	c.384G>A	NM_153212.3	NP_694944.1:p.(Trp128Ter)	NC_000001.10:g.35227239G>A	(Likely) benign	1 lab	3016e82269
7:143028536 CLCN1 G>A	7	143028536	143028536	G	A	CLCN1	c.1065-108G>A	NM_000083.3	NP_000074.3:p.?	NC_000007.13:g.143028536G>A	(Likely) benign	1 lab	1d401f63ec
11:72070041 CLPB G>A	11	72070041	72070041	G	A	CLPB	c.658C>T	NM_001258392.3	NP_001245321.1:p.(Arg220Ter)	NC_000011.9:g.72070041G>A	(Likely) pathogenic	1 lab	30183d627f
11:65357427 EHBP1L1 G>C	11	65357427	65357427	G	C	EHBP1L1	c.4024G>C	NM_001099409.3	NP_001092879.1:p.(Glu1342Gln)	NC_000011.9:g.65357427G>C	(Likely) benign	1 lab	3018ff7d7e
6:57058734 RAB23 T>C	6	57058734	57058734	T	C	RAB23	c.482-2A>G	NM_016277.5	NP_057361.3:p.?	NC_000006.11:g.57058734T>C	VUS	1 lab	301a5ddf1c
10:31608174 ZEB1 GC>G	10	31608174	31608178	GC	G	ZEB1	c.15del	NM_001174096.2	NP_001167567.1:p.(Arg6GlyfsTer22)	NC_000010.10:g.31608178del	VUS	1 lab	301aaaa5a4
1:168056858 GPR161 G>A	1	168056858	168056858	G	A	GPR161	c.1289C>T	NM_001375883.1	NP_001362812.1:p.(Ser430Leu)	NC_000001.10:g.168056858G>A	VUS	1 lab	301d840536
17:7752713 KDM6B C>T	17	7752713	7752713	C	T	KDM6B	c.3107C>T	NM_001348716.2	NP_001335645.1:p.(Pro1036Leu)	NC_000017.10:g.7752713C>T	(Likely) benign	1 lab	301e3d2755
4:111409702 ENPEP T>C	4	111409702	111409702	T	C	ENPEP	c.650T>C	NM_001977.4	NP_001968.3:p.(Ile217Thr)	NC_000004.11:g.111409702T>C	VUS	1 lab	301e4cc914
22:26348304 MYO18B G>A	22	26348304	26348304	G	A	MYO18B	c.5885G>A	NM_032608.7	NP_115997.5:p.(Arg1962Gln)	NC_000022.10:g.26348304G>A	(Likely) benign	1 lab	301ea159b6
9:130592102 ENG G>A	9	130592102	130592102	G	A	ENG	c.224C>T	NM_001114753.3	NP_001108225.1:p.(Pro75Leu)	NC_000009.11:g.130592102G>A	(Likely) benign	1 lab	3023f15581
10:28879690 WAC G>A	10	28879690	28879690	G	A	WAC	c.539G>A	NM_016628.5	NP_057712.2:p.(Ser180Asn)	NC_000010.10:g.28879690G>A	(Likely) benign	1 lab	3024413768
17:74017596 EVPL A>G	17	74017596	74017596	A	G	EVPL	c.964T>C	NM_001988.4	NP_001979.2:p.(Cys322Arg)	NC_000017.10:g.74017596A>G	VUS	1 lab	3026179b7d
17:61995274 GH1 A>G	17	61995274	61995274	A	G	GH1	c.302T>C	NM_000515.5	NP_000506.2:p.(Leu101Pro)	NC_000017.10:g.61995274A>G	VUS	1 lab	332ed13a72
6:43011257 CUL7 C>T	6	43011257	43011257	C	T	CUL7	c.3284G>A	NM_014780.5	NP_055595.2:p.(Arg1095His)	NC_000006.11:g.43011257C>T	(Likely) benign	1 lab	30277ea6c9
19:15272524 NOTCH3 T>G	19	15272524	15272524	T	G	NOTCH3	c.5915A>C	NM_000435.3	NP_000426.2:p.(Glu1972Ala)	NC_000019.9:g.15272524T>G	VUS	1 lab	302a2f90fe
11:7673049 PPFIBP2 C>G	11	7673049	7673049	C	G	PPFIBP2	c.2410C>G	NM_003621.5	NP_003612.3:p.(Pro804Ala)	NC_000011.9:g.7673049C>G	(Likely) benign	1 lab	302bb10310
9:139092474 LHX3 A>C	9	139092474	139092474	A	C	LHX3	c.205T>G	NM_178138.6	NP_835258.1:p.(Cys69Gly)	NC_000009.11:g.139092474A>C	VUS	1 lab	302c5ad97d
1:16256750 SPEN C>T	1	16256750	16256750	C	T	SPEN	c.4015C>T	NM_015001.3	NP_055816.2:p.(Arg1339Cys)	NC_000001.10:g.16256750C>T	(Likely) benign	1 lab	302cce2e65
14:64683079 SYNE2 TCCAGCAC>T	14	64683079	64683088	TCCAGCAC	T	SYNE2	c.19519_19525del	NM_182914.3	NP_878918.2:p.(Ser6507LeufsTer25)	NC_000014.8:g.64683082_64683088del	VUS	1 lab	302d77e699
5:112174949 APC A>G	5	112174949	112174949	A	G	APC	c.3658A>G	NM_000038.6	NP_000029.2:p.(Thr1220Ala)	NC_000005.9:g.112174949A>G	VUS	1 lab	30333f24d9
19:1466506 APC2 G>A	19	1466506	1466506	G	A	APC2	c.3206G>A	NM_005883.3	NP_005874.1:p.(Arg1069Gln)	NC_000019.9:g.1466506G>A	VUS	1 lab	30363a2766
9:131337577 SPTAN1 G>A	9	131337577	131337577	G	A	SPTAN1	c.604G>A	NM_001130438.3	NP_001123910.1:p.(Glu202Lys)	NC_000009.11:g.131337577G>A	VUS	1 lab	3036c78f3d
X:54107803 FAM120C C>T	X	54107803	54107803	C	T	FAM120C	c.2930G>A	NM_017848.6	NP_060318.4:p.(Arg977Gln)	NC_000023.10:g.54107803C>T	(Likely) benign	1 lab	303737b8e4
19:3282465 CELF5 C>T	19	3282465	3282465	C	T	CELF5	c.1008C>T	NM_021938.4	NP_068757.2:p.(Thr336=)	NC_000019.9:g.3282465C>T	VUS	1 lab	30375524f2
1:181701705 CACNA1E G>A	1	181701705	181701705	G	A	CACNA1E	c.2483G>A	NM_001205293.3	NP_001192222.1:p.(Arg828Gln)	NC_000001.10:g.181701705G>A	VUS	1 lab	30375690bb
11:62300205 AHNAK C>T	11	62300205	62300205	C	T	AHNAK	c.1684G>A	NM_001620.3	NP_001611.1:p.(Gly562Arg)	NC_000011.9:g.62300205C>T	VUS	1 lab	303a30df31
3:47164921 SETD2 C>T	3	47164921	47164921	C	T	SETD2	c.1205G>A	NM_014159.7	NP_054878.5:p.(Arg402Gln)	NC_000003.11:g.47164921C>T	(Likely) benign	1 lab	303be00b09
6:29454951 MAS1L A>T	6	29454951	29454951	A	T	MAS1L	c.729T>A	NM_052967.2	NP_443199.1:p.(Ser243Arg)	NC_000006.11:g.29454951A>T	(Likely) benign	1 lab	303e372ebf
X:153663817 ATP6AP1 C>T	X	153663817	153663817	C	T	ATP6AP1	c.1169C>T	NM_001183.6	NP_001174.2:p.(Pro390Leu)	NC_000023.10:g.153663817C>T	VUS	1 lab	303f23bdf4
15:43317059 UBR1 A>C	15	43317059	43317059	A	C	UBR1	c.2707T>G	NM_174916.3	NP_777576.1:p.(Ser903Ala)	NC_000015.9:g.43317059A>C	(Likely) benign	1 lab	303f448f49
9:139391998 NOTCH1 G>C	9	139391998	139391998	G	C	NOTCH1	c.6193C>G	NM_017617.5	NP_060087.3:p.(Leu2065Val)	NC_000009.11:g.139391998G>C	VUS	1 lab	3040d98f45
7:158663897 DYNC2I1 C>T	7	158663897	158663897	C	T	DYNC2I1	c.134C>T	NM_018051.5	NP_060521.4:p.(Ser45Phe)	NC_000007.13:g.158663897C>T	(Likely) benign	1 lab	3040ff8737
8:144886107 SCRIB G>A	8	144886107	144886107	G	A	SCRIB	c.3124C>T	NM_182706.5	NP_874365.3:p.(Leu1042Phe)	NC_000008.10:g.144886107G>A	(Likely) benign	1 lab	30413c9970
1:40769623 COL9A2 G>A	1	40769623	40769623	G	A	COL9A2	c.1345C>T	NM_001852.4	NP_001843.1:p.(Leu449Phe)	NC_000001.10:g.40769623G>A	VUS	1 lab	30432cc8c6
8:145700175 FOXH1 A>G	8	145700175	145700175	A	G	FOXH1	c.544T>C	NM_003923.3	NP_003914.1:p.(Trp182Arg)	NC_000008.10:g.145700175A>G	VUS	1 lab	30449d1155
16:81965226 PLCG2 C>T	16	81965226	81965226	C	T	PLCG2	c.2706C>T	NM_002661.3	NP_002652.2:p.(Ser902=)	NC_000016.9:g.81965226C>T	(Likely) benign	1 lab	1d40f6cc33
11:6568787 DNHD1 G>A	11	6568787	6568787	G	A	DNHD1	c.6618G>A	NM_144666.3	NP_653267.2:p.(Gly2206=)	NC_000011.9:g.6568787G>A	(Likely) benign	1 lab	304605661f
19:39055843 RYR1 C>T	19	39055843	39055843	C	T	RYR1	c.12869C>T	NM_000540.3	NP_000531.2:p.(Ala4290Val)	NC_000019.9:g.39055843C>T	(Likely) benign	1 lab	3046fce7ff
2:179441137 TTN G>A	2	179441137	179441137	G	A	TTN	c.69722C>T	NM_001267550.2	NP_001254479.2:p.(Pro23241Leu)	NC_000002.11:g.179441137G>A	VUS	1 lab	304a3e8874
1:240371190 FMN2 C>T	1	240371190	240371190	C	T	FMN2	c.3078C>T	NM_020066.5	NP_064450.3:p.(Pro1026=)	NC_000001.10:g.240371190C>T	(Likely) benign	1 lab	304c961e17
12:56101432 ITGA7 G>GC	12	56101432	56101438	G	GC	ITGA7	c.34dup	NM_002206.3	NP_002197.2:p.(Ala12GlyfsTer91)	NC_000012.11:g.56101438dup	(Likely) pathogenic	1 lab	304c992106
7:98565263 TRRAP C>T	7	98565263	98565263	C	T	TRRAP	c.7454C>T	NM_001375524.1	NP_001362453.1:p.(Thr2485Ile)	NC_000007.13:g.98565263C>T	(Likely) benign	1 lab	304d40d461
15:99442820 IGF1R G>A	15	99442820	99442820	G	A	IGF1R	c.1217G>A	NM_000875.5	NP_000866.1:p.(Arg406His)	NC_000015.9:g.99442820G>A	VUS	1 lab	304ea8576d
8:125559331 NDUFB9 C>T	8	125559331	125559331	C	T	NDUFB9	c.385C>T	NM_005005.3	NP_004996.1:p.(Arg129Trp)	NC_000008.10:g.125559331C>T	VUS	1 lab	30501a5a0a
16:2150461 PKD1 G>C	16	2150461	2150461	G	C	PKD1	c.9504C>G	NM_001009944.3	NP_001009944.3:p.(Phe3168Leu)	NC_000016.9:g.2150461G>C	(Likely) pathogenic	1 lab	30509d9423
3:122001027 CASR C>A	3	122001027	122001027	C	A	CASR	c.1676C>A	NM_000388.4	NP_000379.3:p.(Pro559His)	NC_000003.11:g.122001027C>A	VUS	1 lab	3050bcb652
7:105190606 RINT1 C>T	7	105190606	105190606	C	T	RINT1	c.1101C>T	NM_021930.6	NP_068749.3:p.(Asn367=)	NC_000007.13:g.105190606C>T	(Likely) benign	1 lab	30541f354a
17:79994649 DCXR G>A	17	79994649	79994649	G	A	DCXR	c.306-10C>T	NM_016286.4	NP_057370.1:p.?	NC_000017.10:g.79994649G>A	(Likely) benign	1 lab	3055fc1c46
12:122248149 SETD1B C>T	12	122248149	122248149	C	T	SETD1B	c.1298C>T	NM_001353345.2	NP_001340274.1:p.(Ala433Val)	NC_000012.11:g.122248149C>T	VUS	1 lab	30577dc218
9:139915440 ABCA2 A>G	9	139915440	139915440	A	G	ABCA2	c.971T>C	NM_001606.5	NP_001597.2:p.(Leu324Pro)	NC_000009.11:g.139915440A>G	VUS	1 lab	3057f26596
11:66103233 RIN1 C>T	11	66103233	66103233	C	T	RIN1	c.382G>A	NM_004292.3	NP_004283.2:p.(Gly128Ser)	NC_000011.9:g.66103233C>T	VUS	1 lab	305890f1f4
16:56375140 GNAO1 G>A	16	56375140	56375140	G	A	GNAO1	c.723+4368G>A	NM_020988.3	NP_066268.1:p.?	NC_000016.9:g.56375140G>A	(Likely) benign	1 lab	30589a45e0
5:14751305 ANKH C>T	5	14751305	14751305	C	T	ANKH	c.560G>A	NM_054027.6	NP_473368.1:p.(Arg187Gln)	NC_000005.9:g.14751305C>T	(Likely) benign	1 lab	305a4dfd62
2:74329005 TET3 A>G	2	74329005	74329005	A	G	TET3	c.5090A>G	NM_001287491.2	NP_001274420.1:p.(Lys1697Arg)	NC_000002.11:g.74329005A>G	VUS	1 lab	305b93e2e4
1:197059212 ASPM C>T	1	197059212	197059212	C	T	ASPM	c.9832G>A	NM_018136.5	NP_060606.3:p.(Val3278Ile)	NC_000001.10:g.197059212C>T	(Likely) benign	1 lab	305e4a06d0
1:247588891 NLRP3 T>C	1	247588891	247588891	T	C	NLRP3	c.2140T>C	NM_001243133.2	NP_001230062.1:p.(Cys714Arg)	NC_000001.10:g.247588891T>C	(Likely) benign	1 lab	305e87b1b5
15:99670847 SYNM C>T	15	99670847	99670847	C	T	SYNM	c.2282C>T	NM_145728.2	NP_663780.2:p.(Pro761Leu)	NC_000015.9:g.99670847C>T	(Likely) benign	1 lab	1d479f99cb
X:3248104 MXRA5 C>T	X	3248104	3248104	C	T	MXRA5	c.664G>A	NM_015419.4	NP_056234.2:p.(Asp222Asn)	NC_000023.10:g.3248104C>T	(Likely) benign	1 lab	3061e1a187
19:58988910 ZNF446 G>C	19	58988910	58988910	G	C	ZNF446	c.325G>C	NM_017908.4	NP_060378.1:p.(Gly109Arg)	NC_000019.9:g.58988910G>C	VUS	1 lab	306516ef1c
16:88871969 CDT1 G>A	16	88871969	88871969	G	A	CDT1	c.610G>A	NM_030928.4	NP_112190.2:p.(Val204Met)	NC_000016.9:g.88871969G>A	VUS	1 lab	30681bafa3
1:152285789 FLG C>T	1	152285789	152285789	C	T	FLG	c.1573G>A	NM_002016.2	NP_002007.1:p.(Gly525Arg)	NC_000001.10:g.152285789C>T	(Likely) benign	1 lab	30683ad11b
19:38991629 RYR1 C>T	19	38991629	38991629	C	T	RYR1	c.7613C>T	NM_000540.3	NP_000531.2:p.(Thr2538Met)	NC_000019.9:g.38991629C>T	VUS	1 lab	30697954ea
18:43671713 ATP5F1A C>A	18	43671713	43671713	C	A	ATP5F1A	c.244G>T	NM_004046.6	NP_004037.1:p.(Ala82Ser)	NC_000018.9:g.43671713C>A	VUS	1 lab	306a4dd185
9:75435854 TMC1 T>A	9	75435854	75435854	T	A	TMC1	c.1860T>A	NM_138691.3	NP_619636.2:p.(Asn620Lys)	NC_000009.11:g.75435854T>A	VUS	1 lab	306ab80ec2
10:99200978 EXOSC1 G>C	10	99200978	99200978	G	C	EXOSC1	c.261C>G	NM_016046.5	NP_057130.1:p.(Ile87Met)	NC_000010.10:g.99200978G>C	(Likely) benign	1 lab	306bd10d7b
18:31314334 ASXL3 C>T	18	31314334	31314334	C	T	ASXL3	c.1037C>T	NM_030632.3	NP_085135.1:p.(Thr346Ile)	NC_000018.9:g.31314334C>T	VUS	1 lab	306c79eed9
9:135946684 CEL T>G	9	135946684	135946684	T	G	CEL	c.1795T>G	NM_001807.6	NP_001798.3:p.(Ser599Ala)	NC_000009.11:g.135946684T>G	(Likely) benign	1 lab	306d2218be
6:143074362 HIVEP2 G>A	6	143074362	143074362	G	A	HIVEP2	c.7223C>T	NM_006734.4	NP_006725.3:p.(Thr2408Met)	NC_000006.11:g.143074362G>A	(Likely) benign	1 lab	306ebca2f3
17:3392568 ASPA C>G	17	3392568	3392568	C	G	ASPA	c.566C>G	NM_000049.4	NP_000040.1:p.(Ala189Gly)	NC_000017.10:g.3392568C>G	VUS	1 lab	306fe52cdb
1:68512625 DIRAS3 G>C	1	68512625	68512625	G	C	DIRAS3	c.356C>G	NM_004675.4	NP_004666.1:p.(Thr119Ser)	NC_000001.10:g.68512625G>C	VUS	1 lab	306fe84f1e
2:198257036 SF3B1 A>G	2	198257036	198257036	A	G	SF3B1	c.3906T>C	NM_012433.4	NP_036565.2:p.(Tyr1302=)	NC_000002.11:g.198257036A>G	(Likely) benign	1 lab	30716d2564
1:200943936 KIF21B C>T	1	200943936	200943936	C	T	KIF21B	c.4720G>A	NM_001252102.2	NP_001239031.1:p.(Val1574Met)	NC_000001.10:g.200943936C>T	VUS	1 lab	3072c6a84c
5:74715189 CERT1 C>T	5	74715189	74715189	C	T	CERT1	c.656G>A	NM_001379029.1	NP_001365958.1:p.(Ser219Asn)	NC_000005.9:g.74715189C>T	(Likely) benign	1 lab	30747d3350
17:39780673 KRT17 C>T	17	39780673	39780673	C	T	KRT17	c.89G>A	NM_000422.3	NP_000413.1:p.(Arg30Gln)	NC_000017.10:g.39780673C>T	(Likely) benign	1 lab	1cef42c073
16:89351535 ANKRD11 C>T	16	89351535	89351535	C	T	ANKRD11	c.1415G>A	NM_013275.6	NP_037407.4:p.(Arg472Gln)	NC_000016.9:g.89351535C>T	VUS	1 lab	30765edbc0
1:3756338 CEP104 T>C	1	3756338	3756338	T	C	CEP104	c.569A>G	NM_014704.4	NP_055519.1:p.(Lys190Arg)	NC_000001.10:g.3756338T>C	(Likely) benign	1 lab	3077094321
17:38956045 KRT28 C>G	17	38956045	38956045	C	G	KRT28	c.101G>C	NM_181535.3	NP_853513.2:p.(Ser34Thr)	NC_000017.10:g.38956045C>G	VUS	1 lab	30775c131e
17:10351292 MYH4 C>T	17	10351292	10351292	C	T	MYH4	c.4808G>A	NM_017533.2	NP_060003.2:p.(Ser1603Asn)	NC_000017.10:g.10351292C>T	(Likely) benign	1 lab	307891f038
8:145139669 GPAA1 G>A	8	145139669	145139669	G	A	GPAA1	c.1055G>A	NM_003801.4	NP_003792.1:p.(Arg352His)	NC_000008.10:g.145139669G>A	VUS	1 lab	307a5d30c2
17:59885980 BRIP1 T>C	17	59885980	59885980	T	C	BRIP1	c.766A>G	NM_032043.3	NP_114432.2:p.(Ile256Val)	NC_000017.10:g.59885980T>C	VUS	1 lab	307ac0ed8f
12:7361727 PEX5 CG>C	12	7361727	7361728	CG	C	PEX5	c.1522del	NM_001351132.2	NP_001338061.1:p.(Val508TrpfsTer21)	NC_000012.11:g.7361728del	VUS	1 lab	307bf5d417
1:154548322 CHRNB2 A>C	1	154548322	154548322	A	C	CHRNB2	c.1423A>C	NM_000748.3	NP_000739.1:p.(Ile475Leu)	NC_000001.10:g.154548322A>C	(Likely) benign	1 lab	307c1b424a
1:11140610 EXOSC10 GA>G	1	11140610	11140621	GA	G	EXOSC10	c.1587-5del	NM_001001998.3	NP_001001998.1:p.?	NC_000001.10:g.11140621del	(Likely) benign	1 lab	307d056251
9:140008795 DPP7 TAGA>T	9	140008795	140008804	TAGA	T	DPP7	c.218_220del	NM_013379.3	NP_037511.2:p.(Phe73del)	NC_000009.11:g.140008802_140008804del	VUS	1 lab	307d30d352
5:42718992 GHR T>G	5	42718992	42718992	T	G	GHR	c.1383T>G	NM_000163.5	NP_000154.1:p.(Thr461=)	NC_000005.9:g.42718992T>G	(Likely) benign	1 lab	3080a3abc7
3:123044186 ADCY5 T>C	3	123044186	123044186	T	C	ADCY5	c.2071A>G	NM_183357.3	NP_899200.1:p.(Lys691Glu)	NC_000003.11:g.123044186T>C	(Likely) pathogenic	1 lab	3083be139a
3:123046466 ADCY5 C>T	3	123046466	123046466	C	T	ADCY5	c.1946G>A	NM_183357.3	NP_899200.1:p.(Arg649Gln)	NC_000003.11:g.123046466C>T	VUS	1 lab	308457ebc7
20:45023165 ELMO2 C>T	20	45023165	45023165	C	T	ELMO2	c.-44G>A	NM_133171.5	NP_573403.1:p.?	NC_000020.10:g.45023165C>T	VUS	1 lab	3087431c85
X:100276126 TRMT2B A>G	X	100276126	100276126	A	G	TRMT2B	c.1030T>C	NM_024917.6	NP_079193.2:p.(Ser344Pro)	NC_000023.10:g.100276126A>G	(Likely) benign	1 lab	308803c907
19:30193683 C19orf12 A>T	19	30193683	30193683	A	T	C19orf12	c.362T>A	NM_031448.6	NP_113636.2:p.(Leu121Gln)	NC_000019.9:g.30193683A>T	VUS	1 lab	30886eb446
21:45919823 TSPEAR C>T	21	45919823	45919823	C	T	TSPEAR	c.1857-4G>A	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.45919823C>T	(Likely) benign	1 lab	30893b686d
8:144994822 PLEC G>T	8	144994822	144994822	G	T	PLEC	c.9167C>A	NM_201384.3	NP_958786.1:p.(Ala3056Asp)	NC_000008.10:g.144994822G>T	VUS	1 lab	3089b5fd01
1:176564215 PAPPA2 C>T	1	176564215	176564215	C	T	PAPPA2	c.1475C>T	NM_020318.3	NP_064714.2:p.(Ser492Leu)	NC_000001.10:g.176564215C>T	(Likely) benign	1 lab	308a1a7ca8
16:56309961 GNAO1 G>A	16	56309961	56309961	G	A	GNAO1	c.280G>A	NM_020988.3	NP_066268.1:p.(Glu94Lys)	NC_000016.9:g.56309961G>A	(Likely) benign	1 lab	308ab62339
16:2160423 PKD1 C>A	16	2160423	2160423	C	A	PKD1	c.4745G>T	NM_001009944.3	NP_001009944.3:p.(Trp1582Leu)	NC_000016.9:g.2160423C>A	(Likely) pathogenic	1 lab	308b02f358
X:119680483 CUL4B G>A	X	119680483	119680483	G	A	CUL4B	c.831-12C>T	NM_003588.3	NP_003579.3:p.?	NC_000023.10:g.119680483G>A	(Likely) benign	1 lab	1d493cb7d4
1:155408815 ASH1L C>G	1	155408815	155408815	C	G	ASH1L	c.5131G>C	NM_018489.3	NP_060959.2:p.(Asp1711His)	NC_000001.10:g.155408815C>G	(Likely) benign	1 lab	308b7af53c
9:35740025 GBA2 G>T	9	35740025	35740025	G	T	GBA2	c.1379C>A	NM_020944.3	NP_065995.1:p.(Ser460Ter)	NC_000009.11:g.35740025G>T	VUS	1 lab	309b7a0539
2:179443335 TTN T>TAA	2	179443335	179443337	T	TAA	TTN	c.68329+2_68329+3insTT	NM_001267550.2	NP_001254479.2:p.?	NC_000002.11:g.179443336_179443337insAA	VUS	1 lab	308bd0f571
17:62029215 SCN4A C>T	17	62029215	62029215	C	T	SCN4A	c.2422G>A	NM_000334.4	NP_000325.4:p.(Asp808Asn)	NC_000017.10:g.62029215C>T	VUS	1 lab	308bd9e74a
11:124745865 ROBO3 A>C	11	124745865	124745865	A	C	ROBO3	c.2437A>C	NM_022370.4	NP_071765.2:p.(Asn813His)	NC_000011.9:g.124745865A>C	VUS	1 lab	308be5a88e
1:11867250 CLCN6 G>A	1	11867250	11867250	G	A	CLCN6	c.147+3G>A	NM_001286.5	NP_001277.2:p.?	NC_000001.10:g.11867250G>A	(Likely) benign	1 lab	308c234f77
4:79293893 FRAS1 C>T	4	79293893	79293893	C	T	FRAS1	c.2891C>T	NM_025074.7	NP_079350.5:p.(Ala964Val)	NC_000004.11:g.79293893C>T	VUS	1 lab	308e7ad271
12:48272779 VDR T>C	12	48272779	48272779	T	C	VDR	c.118A>G	NM_000376.3	NP_000367.1:p.(Thr40Ala)	NC_000012.11:g.48272779T>C	VUS	1 lab	308ff820cd
10:90530612 LIPN G>C	10	90530612	90530612	G	C	LIPN	c.683G>C	NM_001102469.2	NP_001095939.1:p.(Gly228Ala)	NC_000010.10:g.90530612G>C	VUS	1 lab	309058d9a5
11:18269516 SAA2 T>C	11	18269516	18269516	T	C	SAA2	c.43A>G	NM_030754.5	NP_110381.2:p.(Ser15Gly)	NC_000011.9:g.18269516T>C	(Likely) benign	1 lab	30924421c5
22:42610557 TCF20 C>T	22	42610557	42610557	C	T	TCF20	c.755G>A	NM_001378418.1	NP_001365347.1:p.(Arg252His)	NC_000022.10:g.42610557C>T	(Likely) benign	1 lab	309332b7a8
2:166170434 SCN2A C>T	2	166170434	166170434	C	T	SCN2A	c.1199C>T	NM_001040142.2	NP_001035232.1:p.(Thr400Met)	NC_000002.11:g.166170434C>T	VUS	1 lab	3093c88c99
18:19751586 GATA6 G>T	18	19751586	19751586	G	T	GATA6	c.481G>T	NM_005257.6	NP_005248.2:p.(Ala161Ser)	NC_000018.9:g.19751586G>T	(Likely) benign	1 lab	30943dd808
16:30750602 SRCAP A>G	16	30750602	30750602	A	G	SRCAP	c.9241A>G	NM_006662.3	NP_006653.2:p.(Ser3081Gly)	NC_000016.9:g.30750602A>G	(Likely) benign	1 lab	30968c176a
X:153593194 FLNA G>A	X	153593194	153593194	G	A	FLNA	c.1823C>T	NM_001110556.2	NP_001104026.1:p.(Thr608Met)	NC_000023.10:g.153593194G>A	VUS	1 lab	3098052601
2:241712572 KIF1A C>T	2	241712572	241712572	C	T	KIF1A	c.1139G>A	NM_001244008.2	NP_001230937.1:p.(Arg380Gln)	NC_000002.11:g.241712572C>T	VUS	1 lab	309855a447
X:30236732 MAGEB2 G>A	X	30236732	30236732	G	A	MAGEB2	c.35G>A	NM_002364.5	NP_002355.2:p.(Arg12His)	NC_000023.10:g.30236732G>A	VUS	1 lab	309969acdb
7:73933915 GTF2IRD1 C>T	7	73933915	73933915	C	T	GTF2IRD1	c.782C>T	NM_016328.3	NP_057412.1:p.(Ala261Val)	NC_000007.13:g.73933915C>T	VUS	1 lab	1cf0e3e9e3
6:157100606 ARID1B G>C	6	157100606	157100606	G	C	ARID1B	c.1791+1G>C	NM_001374828.1	NP_001361757.1:p.?	NC_000006.11:g.157100606G>C	(Likely) pathogenic	1 lab	309d22c795
9:80866822 CEP78 A>G	9	80866822	80866822	A	G	CEP78	c.1070-2A>G	NM_001330691.3	NP_001317620.1:p.?	NC_000009.11:g.80866822A>G	(Likely) benign	1 lab	309d81d4a1
19:39062680 RYR1 G>A	19	39062680	39062680	G	A	RYR1	c.13768G>A	NM_000540.3	NP_000531.2:p.(Glu4590Lys)	NC_000019.9:g.39062680G>A	(Likely) benign	1 lab	309e89afaa
X:102755147 RAB40A T>A	X	102755147	102755147	T	A	RAB40A	c.538A>T	NM_080879.3	NP_543155.2:p.(Met180Leu)	NC_000023.10:g.102755147T>A	(Likely) benign	1 lab	309ec01db6
2:215646058 BARD1 A>G	2	215646058	215646058	A	G	BARD1	c.540T>C	NM_000465.4	NP_000456.2:p.(Tyr180=)	NC_000002.11:g.215646058A>G	(Likely) benign	1 lab	309edb354d
5:6632703 NSUN2 C>A	5	6632703	6632703	C	A	NSUN2	c.254+9G>T	NM_017755.6	NP_060225.4:p.?	NC_000005.9:g.6632703C>A	(Likely) benign	1 lab	3378897ff7
10:89473069 PAPSS2 T>TAAAAAAAAAAAAAAA	10	89473069	89473091	T	TAAAAAAAAAAAAAAA	PAPSS2	c.381+10_381+24dup	NM_001015880.2	NP_001015880.1:p.?	NC_000010.10:g.89473077_89473091dup	(Likely) benign	1 lab	30a08e6299
17:59938864 BRIP1 C>T	17	59938864	59938864	C	T	BRIP1	c.37G>A	NM_032043.3	NP_114432.2:p.(Val13Met)	NC_000017.10:g.59938864C>T	VUS	1 lab	30a0d597c5
4:85600236 WDFY3 GAGCCACTGTCAGTACACC>G	4	85600236	85600256	GAGCCACTGTCAGTACACC	G	WDFY3	c.9965_9982del	NM_014991.6	NP_055806.2:p.(Trp3322_Gly3327del)	NC_000004.11:g.85600239_85600256del	(Likely) benign	1 lab	30a2526626
1:53364875 ECHDC2 C>T	1	53364875	53364875	C	T	ECHDC2	c.724G>A	NM_001198961.2	NP_001185890.1:p.(Gly242Ser)	NC_000001.10:g.53364875C>T	VUS	1 lab	30a46bb0fb
1:216595447 USH2A A>C	1	216595447	216595447	A	C	USH2A	c.232T>G	NM_206933.4	NP_996816.3:p.(Phe78Val)	NC_000001.10:g.216595447A>C	VUS	1 lab	30a6a7efdb
5:145393322 SH3RF2 G>T	5	145393322	145393322	G	T	SH3RF2	c.757G>T	NM_152550.4	NP_689763.4:p.(Ala253Ser)	NC_000005.9:g.145393322G>T	VUS	1 lab	30a78cf8e3
16:89347043 ANKRD11 GT>G	16	89347043	89347047	GT	G	ANKRD11	c.5906del	NM_013275.6	NP_037407.4:p.(Asn1969ThrfsTer3)	NC_000016.9:g.89347047del	(Likely) pathogenic	1 lab	30a7f89e16
3:49568847 DAG1 TAAG>T	3	49568847	49568853	TAAG	T	DAG1	c.907_909del	NM_004393.6	NP_004384.5:p.(Lys303del)	NC_000003.11:g.49568851_49568853del	VUS	1 lab	30a836e026
16:2165427 PKD1 C>T	16	2165427	2165427	C	T	PKD1	c.2049G>A	NM_001009944.3	NP_001009944.3:p.(Trp683Ter)	NC_000016.9:g.2165427C>T	(Likely) pathogenic	1 lab	30a88b8234
11:65838306 PACS1 G>A	11	65838306	65838306	G	A	PACS1	c.349G>A	NM_018026.4	NP_060496.2:p.(Val117Met)	NC_000011.9:g.65838306G>A	VUS	1 lab	30a8a0747d
6:28297279 ZSCAN31 C>T	6	28297279	28297279	C	T	ZSCAN31	c.182G>A	NM_030899.5	NP_112161.3:p.(Arg61Gln)	NC_000006.11:g.28297279C>T	VUS	1 lab	30ab820afd
12:56078988 ITGA7 G>A	12	56078988	56078988	G	A	ITGA7	c.3268C>T	NM_002206.3	NP_002197.2:p.(Gln1090Ter)	NC_000012.11:g.56078988G>A	VUS	1 lab	30ad95f578
X:153736665 FAM3A C>T	X	153736665	153736665	C	T	FAM3A	c.289G>A	NM_021806.4	NP_068578.2:p.(Val97Ile)	NC_000023.10:g.153736665C>T	(Likely) benign	1 lab	30ad9907d7
5:176715936 NSD1 T>C	5	176715936	176715936	T	C	NSD1	c.6258+10T>C	NM_022455.5	NP_071900.2:p.?	NC_000005.9:g.176715936T>C	(Likely) benign	1 lab	30ae0ee527
17:40850632 CNTNAP1 T>C	17	40850632	40850632	T	C	CNTNAP1	c.3863-4T>C	NM_003632.3	NP_003623.1:p.?	NC_000017.10:g.40850632T>C	(Likely) benign	1 lab	30afb4a5ea
1:197069791 ASPM T>C	1	197069791	197069791	T	C	ASPM	c.8590A>G	NM_018136.5	NP_060606.3:p.(Ile2864Val)	NC_000001.10:g.197069791T>C	VUS	1 lab	30b151254c
2:149803531 KIF5C C>T	2	149803531	149803531	C	T	KIF5C	c.708C>T	NM_004522.3	NP_004513.1:p.(Ser236=)	NC_000002.11:g.149803531C>T	(Likely) benign	1 lab	30b20002c4
16:2164431 PKD1 TG>T	16	2164431	2164432	TG	T	PKD1	c.2592del	NM_001009944.3	NP_001009944.3:p.(Ser865ValfsTer33)	NC_000016.9:g.2164432del	(Likely) pathogenic	1 lab	30b251fb17
3:9799466 CAMK1 T>A	3	9799466	9799466	T	A	CAMK1	c.977A>T	NM_003656.5	NP_003647.1:p.(Glu326Val)	NC_000003.11:g.9799466T>A	VUS	1 lab	30b28f8faf
X:140953363 MAGEC3 G>A	X	140953363	140953363	G	A	MAGEC3	c.230G>A	NM_138702.1	NP_619647.1:p.(Ser77Asn)	NC_000023.10:g.140953363G>A	(Likely) benign	1 lab	30b2f178bf
6:117248276 RFX6 C>G	6	117248276	117248276	C	G	RFX6	c.1972C>G	NM_173560.4	NP_775831.2:p.(Gln658Glu)	NC_000006.11:g.117248276C>G	VUS	1 lab	30b31856f7
11:111708952 ALG9 G>C	11	111708952	111708952	G	C	ALG9	c.1324+20C>G	NM_024740.2	NP_079016.2:p.?	NC_000011.9:g.111708952G>C	(Likely) benign	1 lab	30b348982f
2:177193022 MTX2 G>A	2	177193022	177193022	G	A	MTX2	c.287G>A	NM_006554.5	NP_006545.1:p.(Gly96Asp)	NC_000002.11:g.177193022G>A	VUS	1 lab	30b40b9697
15:100514617 ADAMTS17 G>A	15	100514617	100514617	G	A	ADAMTS17	c.3278C>T	NM_139057.4	NP_620688.2:p.(Pro1093Leu)	NC_000015.9:g.100514617G>A	(Likely) benign	1 lab	30b475e04a
6:116441718 COL10A1 T>A	6	116441718	116441718	T	A	COL10A1	c.1561A>T	NM_000493.4	NP_000484.2:p.(Met521Leu)	NC_000006.11:g.116441718T>A	(Likely) benign	1 lab	30b710f0f8
20:30556090 XKR7 G>A	20	30556090	30556090	G	A	XKR7	c.112G>A	NM_001011718.2	NP_001011718.1:p.(Gly38Arg)	NC_000020.10:g.30556090G>A	(Likely) benign	1 lab	30b79e7e66
6:166721048 PRR18 G>A	6	166721048	166721048	G	A	PRR18	c.583C>T	NM_175922.4	NP_787118.2:p.(Pro195Ser)	NC_000006.11:g.166721048G>A	VUS	1 lab	30b84de669
X:96171440 DIAPH2 GGA>G	X	96171440	96171442	GGA	G	DIAPH2	c.737_738del	NM_006729.5	NP_006720.1:p.(Gly246ValfsTer8)	NC_000023.10:g.96171441_96171442del	VUS	1 lab	30b99fcffb
11:792867 SLC25A22 C>T	11	792867	792867	C	T	SLC25A22	c.412+3G>A	NM_001191061.2	NP_001177990.1:p.?	NC_000011.9:g.792867C>T	(Likely) benign	1 lab	30ba50df77
4:5812746 EVC GAGA>G	4	5812746	5812754	GAGA	G	EVC	c.2967_2969del	NM_153717.3	NP_714928.1:p.(Arg989del)	NC_000004.11:g.5812752_5812754del	VUS	1 lab	30bbdd750b
2:121732606 GLI2 C>G	2	121732606	121732606	C	G	GLI2	c.1238C>G	NM_001374353.1	NP_001361282.1:p.(Ala413Gly)	NC_000002.11:g.121732606C>G	VUS	1 lab	30c3b7f883
1:227069587 PSEN2 A>T	1	227069587	227069587	A	T	PSEN2	c.-20-2A>T	NM_000447.3	NP_000438.2:p.?	NC_000001.10:g.227069587A>T	VUS	1 lab	30c3fe079d
15:89399986 ACAN CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAG>C	15	89399986	89400193	CATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAGATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGATGAGATCAGTGGGCTTCCTTCTGGAGAAGTTCTAGAGACTACTGCCCCTGGAGTAGAGGAG	C	ACAN	c.4207_4377del	NM_001369268.1	NP_001356197.1:p.(Thr1403_Thr1459del)	NC_000015.9:g.89400023_89400193del	VUS	1 lab	30bc335848
6:152647181 SYNE1 A>G	6	152647181	152647181	A	G	SYNE1	c.15350T>C	NM_182961.4	NP_892006.3:p.(Met5117Thr)	NC_000006.11:g.152647181A>G	VUS	1 lab	30be2dee8b
5:36985527 NIPBL C>G	5	36985527	36985527	C	G	NIPBL	c.2245C>G	NM_133433.4	NP_597677.2:p.(Gln749Glu)	NC_000005.9:g.36985527C>G	VUS	1 lab	30bf4a93ce
7:21840851 DNAH11 A>G	7	21840851	21840851	A	G	DNAH11	c.10123A>G	NM_001277115.2	NP_001264044.1:p.(Thr3375Ala)	NC_000007.13:g.21840851A>G	VUS	1 lab	30c098d2b6
19:14574703 PKN1 G>A	19	14574703	14574703	G	A	PKN1	c.1559G>A	NM_002741.5	NP_002732.3:p.(Arg520Gln)	NC_000019.9:g.14574703G>A	VUS	1 lab	30c0cb2471
1:39918358 MACF1 G>A	1	39918358	39918358	G	A	MACF1	c.20616G>A	NM_001394062.1	NP_001380991.1:p.(Ala6872=)	NC_000001.10:g.39918358G>A	(Likely) benign	1 lab	30c0fd23c9
6:170181472 ERMARD A>C	6	170181472	170181472	A	C	ERMARD	c.1900A>C	NM_018341.3	NP_060811.1:p.(Thr634Pro)	NC_000006.11:g.170181472A>C	(Likely) benign	1 lab	30c19d0b05
2:101706824 TBC1D8 G>A	2	101706824	101706824	G	A	TBC1D8	c.130C>T	NM_001330348.2	NP_001317277.1:p.(Arg44Cys)	NC_000002.11:g.101706824G>A	VUS	1 lab	30c1b1217a
19:50139871 RRAS C>T	19	50139871	50139871	C	T	RRAS	c.453+5G>A	NM_006270.5	NP_006261.1:p.?	NC_000019.9:g.50139871C>T	(Likely) benign	1 lab	30c1cb31d9
8:41792388 KAT6A A>G	8	41792388	41792388	A	G	KAT6A	c.3353-3T>C	NM_006766.5	NP_006757.2:p.?	NC_000008.10:g.41792388A>G	(Likely) benign	1 lab	30c237e4e3
20:43034731 HNF4A C>T	20	43034731	43034731	C	T	HNF4A	c.149C>T	NM_000457.5	NP_000448.3:p.(Ala50Val)	NC_000020.10:g.43034731C>T	VUS	1 lab	30c26743cf
9:135946710 CEL G>A	9	135946710	135946710	G	A	CEL	c.1821G>A	NM_001807.6	NP_001798.3:p.(Thr607=)	NC_000009.11:g.135946710G>A	(Likely) benign	1 lab	30c2da3e4a
16:30734424 SRCAP C>T	16	30734424	30734424	C	T	SRCAP	c.4033C>T	NM_006662.3	NP_006653.2:p.(Arg1345Cys)	NC_000016.9:g.30734424C>T	VUS	1 lab	30c398ea52
16:89590060 SPG7 G>A	16	89590060	89590060	G	A	SPG7	c.377-354G>A	NM_003119.4	NP_003110.1:p.?	NC_000016.9:g.89590060G>A	(Likely) benign	1 lab	1d4b7e4339
X:37285131 PRRG1 C>T	X	37285131	37285131	C	T	PRRG1	c.49C>T	NM_001142395.2	NP_001135867.1:p.(Arg17Cys)	NC_000023.10:g.37285131C>T	VUS	1 lab	30c831eae0
16:2158436 PKD1 GCT>G	16	2158436	2158440	GCT	G	PKD1	c.6730_6731del	NM_001009944.3	NP_001009944.3:p.(Ser2244HisfsTer17)	NC_000016.9:g.2158439_2158440del	(Likely) pathogenic	1 lab	30c86b652e
17:63554711 AXIN2 G>T	17	63554711	63554711	G	T	AXIN2	c.28C>A	NM_004655.4	NP_004646.3:p.(Leu10Ile)	NC_000017.10:g.63554711G>T	VUS	1 lab	30cb2f0a9c
X:149639352 MAMLD1 G>T	X	149639352	149639352	G	T	MAMLD1	c.1507G>T	NM_005491.5	NP_005482.2:p.(Ala503Ser)	NC_000023.10:g.149639352G>T	(Likely) benign	1 lab	30cb447532
9:139327662 INPP5E G>A	9	139327662	139327662	G	A	INPP5E	c.1104C>T	NM_019892.6	NP_063945.2:p.(His368=)	NC_000009.11:g.139327662G>A	(Likely) benign	1 lab	1d4ce12687
1:152187320 HRNR G>C	1	152187320	152187320	G	C	HRNR	c.6785C>G	NM_001009931.3	NP_001009931.1:p.(Thr2262Ser)	NC_000001.10:g.152187320G>C	(Likely) benign	1 lab	30cc52f5df
8:145007272 PLEC G>A	8	145007272	145007272	G	A	PLEC	c.1426C>T	NM_201384.3	NP_958786.1:p.(Arg476Cys)	NC_000008.10:g.145007272G>A	VUS	1 lab	30cd81dcf5
17:78341801 RNF213 A>G	17	78341801	78341801	A	G	RNF213	c.12013A>G	NM_001256071.3	NP_001243000.2:p.(Lys4005Glu)	NC_000017.10:g.78341801A>G	(Likely) benign	1 lab	30ce7fb78e
2:58386928 VRK2 G>GTAAT	2	58386928	58386933	G	GTAAT	VRK2	c.*102_*105dup	NM_006296.7	NP_006287.2:p.?	NC_000002.11:g.58386930_58386933dup	VUS	1 lab	30d33987f2
5:13753557 DNAH5 G>A	5	13753557	13753557	G	A	DNAH5	c.10657C>T	NM_001369.3	NP_001360.1:p.(Arg3553Trp)	NC_000005.9:g.13753557G>A	VUS	1 lab	30d342c0f2
10:518482 DIP2C G>T	10	518482	518482	G	T	DIP2C	c.165C>A	NM_014974.3	NP_055789.1:p.(Asp55Glu)	NC_000010.10:g.518482G>T	VUS	1 lab	30d46f1fc6
X:149671795 MAMLD1 A>T	X	149671795	149671795	A	T	MAMLD1	c.2284+8A>T	NM_005491.5	NP_005482.2:p.?	NC_000023.10:g.149671795A>T	(Likely) benign	1 lab	30d47bc915
2:238285423 COL6A3 G>T	2	238285423	238285423	G	T	COL6A3	c.3062C>A	NM_004369.4	NP_004360.2:p.(Pro1021Gln)	NC_000002.11:g.238285423G>T	(Likely) benign	1 lab	30d569d4be
17:18034131 MYO15A AGTGTGTGTGT>A	17	18034131	18034185	AGTGTGTGTGT	A	MYO15A	c.4038+52_4038+61del	NM_016239.4	NP_057323.3:p.?	NC_000017.10:g.18034176_18034185del	(Likely) benign	1 lab	30d66b9a4a
11:6622687 RRP8 C>G	11	6622687	6622687	C	G	RRP8	c.609G>C	NM_015324.4	NP_056139.1:p.(Gln203His)	NC_000011.9:g.6622687C>G	VUS	1 lab	30d6c18d58
4:995578 IDUA G>C	4	995578	995578	G	C	IDUA	c.701G>C	NM_000203.5	NP_000194.2:p.(Ser234Thr)	NC_000004.11:g.995578G>C	VUS	1 lab	30d7ba2a85
6:157525120 ARID1B A>G	6	157525120	157525120	A	G	ARID1B	c.5384A>G	NM_001374828.1	NP_001361757.1:p.(Asn1795Ser)	NC_000006.11:g.157525120A>G	VUS	1 lab	30d8acf671
10:37433988 ANKRD30A T>C	10	37433988	37433988	T	C	ANKRD30A	c.1455+4T>C	NM_052997.3	NP_443723.3:p.?	NC_000010.10:g.37433988T>C	VUS	1 lab	30d8e3222e
14:64066066 WDR89 C>T	14	64066066	64066066	C	T	WDR89	c.595G>A	NM_080666.4	NP_542397.1:p.(Asp199Asn)	NC_000014.8:g.64066066C>T	VUS	1 lab	30d93d686c
17:56285296 MKS1 C>T	17	56285296	56285296	C	T	MKS1	c.1232G>A	NM_017777.4	NP_060247.2:p.(Arg411His)	NC_000017.10:g.56285296C>T	VUS	1 lab	30d97c7413
9:103060254 INVS G>C	9	103060254	103060254	G	C	INVS	c.3053G>C	NM_014425.5	NP_055240.2:p.(Arg1018Thr)	NC_000009.11:g.103060254G>C	VUS	1 lab	30da299721
3:142272757 ATR T>G	3	142272757	142272757	T	G	ATR	c.2442A>C	NM_001184.4	NP_001175.2:p.(Glu814Asp)	NC_000003.11:g.142272757T>G	VUS	1 lab	30da91a846
2:232220533 ARMC9 C>G	2	232220533	232220533	C	G	ARMC9	c.2018C>G	NM_001352754.2	NP_001339683.2:p.(Pro673Arg)	NC_000002.11:g.232220533C>G	VUS	1 lab	30db462309
2:197298032 HECW2 T>G	2	197298032	197298032	T	G	HECW2	c.116A>C	NM_001348768.2	NP_001335697.1:p.(Glu39Ala)	NC_000002.11:g.197298032T>G	(Likely) benign	1 lab	30dce048af
11:103044794 DYNC2H1 AC>A	11	103044794	103044795	AC	A	DYNC2H1	c.5570del	NM_001377.3	NP_001368.2:p.(Thr1857AsnfsTer10)	NC_000011.9:g.103044795del	VUS	1 lab	30dde78941
6:135776912 AHI1 C>T	6	135776912	135776912	C	T	AHI1	c.1304G>A	NM_001134831.2	NP_001128303.1:p.(Arg435Gln)	NC_000006.11:g.135776912C>T	(Likely) benign	1 lab	30e01b5d90
14:20874544 TEP1 A>T	14	20874544	20874544	A	T	TEP1	c.583T>A	NM_007110.5	NP_009041.2:p.(Ser195Thr)	NC_000014.8:g.20874544A>T	(Likely) benign	1 lab	30e06a472c
8:121326223 COL14A1 C>G	8	121326223	121326223	C	G	COL14A1	c.4508C>G	NM_021110.4	NP_066933.1:p.(Pro1503Arg)	NC_000008.10:g.121326223C>G	VUS	1 lab	30e0c08883
8:61654435 CHD7 G>A	8	61654435	61654435	G	A	CHD7	c.444G>A	NM_017780.4	NP_060250.2:p.(Arg148=)	NC_000008.10:g.61654435G>A	(Likely) benign	1 lab	30e0f63e57
10:124221593 HTRA1 T>C	10	124221593	124221593	T	C	HTRA1	c.425T>C	NM_002775.5	NP_002766.1:p.(Leu142Pro)	NC_000010.10:g.124221593T>C	VUS	1 lab	30e100ef36
8:144997838 PLEC G>A	8	144997838	144997838	G	A	PLEC	c.6259C>T	NM_201384.3	NP_958786.1:p.(Arg2087Trp)	NC_000008.10:g.144997838G>A	(Likely) benign	1 lab	30e499d1c8
1:49052675 AGBL4 C>T	1	49052675	49052675	C	T	AGBL4	c.1267+1G>A	NM_032785.4	NP_116174.3:p.?	NC_000001.10:g.49052675C>T	VUS	1 lab	30e63c0cd5
2:201503018 AOX1 A>G	2	201503018	201503018	A	G	AOX1	c.2561A>G	NM_001159.4	NP_001150.3:p.(Lys854Arg)	NC_000002.11:g.201503018A>G	(Likely) benign	1 lab	30e672b819
20:18491553 SEC23B C>A	20	18491553	18491553	C	A	SEC23B	c.74C>A	NM_006363.6	NP_006354.2:p.(Pro25His)	NC_000020.10:g.18491553C>A	VUS	1 lab	30e67ee731
5:176942943 DDX41 G>A	5	176942943	176942943	G	A	DDX41	c.421C>T	NM_016222.4	NP_057306.2:p.(Pro141Ser)	NC_000005.9:g.176942943G>A	VUS	1 lab	30e6be1bb1
6:27792138 H4C11 G>T	6	27792138	27792138	G	T	H4C11	c.236G>T	NM_021968.4	NP_068803.1:p.(Arg79Leu)	NC_000006.11:g.27792138G>T	VUS	1 lab	30e7a6e95e
8:106814523 ZFPM2 G>A	8	106814523	106814523	G	A	ZFPM2	c.2213G>A	NM_012082.4	NP_036214.2:p.(Arg738His)	NC_000008.10:g.106814523G>A	(Likely) benign	1 lab	30e7c9e29d
22:21351042 LZTR1 C>G	22	21351042	21351042	C	G	LZTR1	c.2277C>G	NM_006767.4	NP_006758.2:p.(Tyr759Ter)	NC_000022.10:g.21351042C>G	VUS	1 lab	30e8247138
9:32986031 APTX A>G	9	32986031	32986031	A	G	APTX	c.484-3T>C	NM_001195248.2	NP_001182177.2:p.?	NC_000009.11:g.32986031A>G	(Likely) benign	1 lab	30e9d9d496
17:80043273 FASN C>T	17	80043273	80043273	C	T	FASN	c.4128G>A	NM_004104.5	NP_004095.4:p.(Ala1376=)	NC_000017.10:g.80043273C>T	(Likely) benign	1 lab	30eb8aa778
5:79950692 DHFR C>G	5	79950692	79950692	C	G	DHFR	c.-384G>C	NM_000791.4	NP_000782.1:p.?	NC_000005.9:g.79950692C>G	VUS	1 lab	30ed1ee178
X:48375632 PORCN A>T	X	48375632	48375632	A	T	PORCN	c.1235A>T	NM_203475.3	NP_982301.1:p.(Tyr412Phe)	NC_000023.10:g.48375632A>T	VUS	1 lab	30edc1b848
1:183481962 SMG7 T>TA	1	183481962	183481963	T	TA	SMG7	c.30-10_30-9insA	NM_001375584.1	NP_001362513.1:p.?	NC_000001.10:g.183481962_183481963insA	(Likely) benign	1 lab	30eebc4626
5:79026566 CMYA5 A>G	5	79026566	79026566	A	G	CMYA5	c.1978A>G	NM_153610.5	NP_705838.3:p.(Lys660Glu)	NC_000005.9:g.79026566A>G	(Likely) benign	1 lab	30f052cd0f
9:126135973 CRB2 C>T	9	126135973	126135973	C	T	CRB2	c.3163C>T	NM_173689.7	NP_775960.4:p.(Arg1055Cys)	NC_000009.11:g.126135973C>T	VUS	1 lab	30f09304cf
7:100684727 MUC17 AAT>A	7	100684727	100684731	AAT	A	MUC17	c.10033_10034del	NM_001040105.2	NP_001035194.1:p.(Met3345ValfsTer11)	NC_000007.13:g.100684730_100684731del	VUS	1 lab	30f2087d8d
17:48431094 XYLT2 G>T	17	48431094	48431094	G	T	XYLT2	c.239G>T	NM_022167.4	NP_071450.2:p.(Arg80Leu)	NC_000017.10:g.48431094G>T	(Likely) benign	1 lab	30f32754f1
9:98231409 PTCH1 A>T	9	98231409	98231409	A	T	PTCH1	c.1874T>A	NM_000264.5	NP_000255.2:p.(Val625Asp)	NC_000009.11:g.98231409A>T	VUS	1 lab	30f48da228
12:65085294 RASSF3 C>T	12	65085294	65085294	C	T	RASSF3	c.502C>T	NM_178169.4	NP_835463.1:p.(Arg168Cys)	NC_000012.11:g.65085294C>T	VUS	1 lab	30f6898b9e
11:644633 DEAF1 T>C	11	644633	644633	T	C	DEAF1	c.1615A>G	NM_021008.4	NP_066288.2:p.(Ile539Val)	NC_000011.9:g.644633T>C	VUS	1 lab	33de9f755c
19:39760269 IFNL2 C>T	19	39760269	39760269	C	T	IFNL2	c.412C>T	NM_172138.2	NP_742150.1:p.(Arg138Trp)	NC_000019.9:g.39760269C>T	(Likely) benign	1 lab	30f885332d
2:26678108 DRC1 G>A	2	26678108	26678108	G	A	DRC1	c.2166+7G>A	NM_145038.5	NP_659475.2:p.?	NC_000002.11:g.26678108G>A	(Likely) benign	1 lab	30f8cd537a
22:20378890 TMEM191B T>TCTA	22	20378890	20378894	T	TCTA	TMEM191B	c.478_480dup	NM_001242313.1	NP_001229242.1:p.(Tyr160dup)	NC_000022.10:g.20378892_20378894dup	VUS	1 lab	30f972ab97
14:23858131 MYH6 G>T	14	23858131	23858131	G	T	MYH6	c.4112C>A	NM_002471.4	NP_002462.2:p.(Ala1371Asp)	NC_000014.8:g.23858131G>T	VUS	1 lab	30f9803294
15:49089646 CEP152 C>A	15	49089646	49089646	C	A	CEP152	c.392G>T	NM_001194998.2	NP_001181927.1:p.(Gly131Val)	NC_000015.9:g.49089646C>A	VUS	1 lab	30fd82c5cb
2:240098186 HDAC4 C>A	2	240098186	240098186	C	A	HDAC4	c.413G>T	NM_001378414.1	NP_001365343.1:p.(Arg138Leu)	NC_000002.11:g.240098186C>A	VUS	1 lab	30fe0af04e
6:31378850 MICA C>T	6	31378850	31378850	C	T	MICA	c.327C>T	NM_001177519.3	NP_001170990.1:p.(Gly109=)	NC_000006.11:g.31378850C>T	VUS	1 lab	30fe27d1a0
17:65344748 PSMD12 G>A	17	65344748	65344748	G	A	PSMD12	c.428C>T	NM_002816.5	NP_002807.1:p.(Ala143Val)	NC_000017.10:g.65344748G>A	VUS	1 lab	30fe2f9b9d
18:19751439 GATA6 T>C	18	19751439	19751439	T	C	GATA6	c.334T>C	NM_005257.6	NP_005248.2:p.(Leu112=)	NC_000018.9:g.19751439T>C	(Likely) benign	1 lab	30fe9160be
X:69563832 KIF4A G>A	X	69563832	69563832	G	A	KIF4A	c.1431G>A	NM_012310.5	NP_036442.3:p.(Ser477=)	NC_000023.10:g.69563832G>A	VUS	1 lab	30feb1d05f
5:115298898 LVRN C>T	5	115298898	115298898	C	T	LVRN	c.584C>T	NM_173800.5	NP_776161.3:p.(Pro195Leu)	NC_000005.9:g.115298898C>T	(Likely) benign	1 lab	310006865e
1:47767944 STIL G>A	1	47767944	47767944	G	A	STIL	c.227C>T	NM_001048166.1	NP_001041631.1:p.(Ser76Leu)	NC_000001.10:g.47767944G>A	VUS	1 lab	31036e1a8f
9:75403365 TMC1 A>G	9	75403365	75403365	A	G	TMC1	c.995A>G	NM_138691.3	NP_619636.2:p.(Asp332Gly)	NC_000009.11:g.75403365A>G	VUS	1 lab	3104be1153
10:43610118 RET C>T	10	43610118	43610118	C	T	RET	c.2070C>T	NM_020975.6	NP_066124.1:p.(Ser690=)	NC_000010.10:g.43610118C>T	(Likely) benign	1 lab	3105dcd06e
9:98242840 PTCH1 G>A	9	98242840	98242840	G	A	PTCH1	c.777C>T	NM_000264.5	NP_000255.2:p.(Phe259=)	NC_000009.11:g.98242840G>A	(Likely) benign	1 lab	31066430f4
7:73466295 ELN G>A	7	73466295	73466295	G	A	ELN	c.931G>A	NM_000501.4	NP_000492.2:p.(Ala311Thr)	NC_000007.13:g.73466295G>A	(Likely) benign	1 lab	31070d9d9e
1:111216119 KCNA3 G>A	1	111216119	111216119	G	A	KCNA3	c.1313C>T	NM_002232.5	NP_002223.3:p.(Ala438Val)	NC_000001.10:g.111216119G>A	VUS	1 lab	3107b93d53
1:44056757 PTPRF G>A	1	44056757	44056757	G	A	PTPRF	c.1064G>A	NM_002840.5	NP_002831.2:p.(Arg355His)	NC_000001.10:g.44056757G>A	VUS	1 lab	310930b02a
11:101815027 CEP126 G>GA	11	101815027	101815032	G	GA	CEP126	c.285dup	NM_020802.4	NP_065853.3:p.(Glu96ArgfsTer5)	NC_000011.9:g.101815032dup	VUS	1 lab	310af3c893
X:153073604 PDZD4 G>A	X	153073604	153073604	G	A	PDZD4	c.314+193C>T	NM_001303512.2	NP_001290441.1:p.?	NC_000023.10:g.153073604G>A	(Likely) benign	1 lab	310c2b19a1
3:46007808 FYCO1 C>A	3	46007808	46007808	C	A	FYCO1	c.3018G>T	NM_024513.4	NP_078789.2:p.(Gln1006His)	NC_000003.11:g.46007808C>A	VUS	1 lab	310e1d2e19
9:91965691 SECISBP2 G>T	9	91965691	91965691	G	T	SECISBP2	c.2037G>T	NM_024077.5	NP_076982.3:p.(Glu679Asp)	NC_000009.11:g.91965691G>T	VUS	1 lab	310eaa3f52
10:27318225 ANKRD26 G>C	10	27318225	27318225	G	C	ANKRD26	c.3868C>G	NM_014915.3	NP_055730.2:p.(His1290Asp)	NC_000010.10:g.27318225G>C	(Likely) benign	1 lab	310ec1f1d6
16:1840903 IGFALS C>T	16	1840903	1840903	C	T	IGFALS	c.1516G>A	NM_004970.3	NP_004961.1:p.(Gly506Arg)	NC_000016.9:g.1840903C>T	VUS	1 lab	3110f0242d
9:134504602 RAPGEF1 G>C	9	134504602	134504602	G	C	RAPGEF1	c.780C>G	NM_001377935.1	NP_001364864.1:p.(Ile260Met)	NC_000009.11:g.134504602G>C	VUS	1 lab	31114a9714
M:8527 MISSING A>G	M	8527		A	G	MISSING				NC_012920.1:m.8527A>G	(Likely) benign	1 lab	311326def8
9:140611329 EHMT1 G>A	9	140611329	140611329	G	A	EHMT1	c.337G>A	NM_024757.5	NP_079033.4:p.(Asp113Asn)	NC_000009.11:g.140611329G>A	(Likely) benign	1 lab	3114e4a422
2:220432843 OBSL1 C>T	2	220432843	220432843	C	T	OBSL1	c.1216G>A	NM_015311.3	NP_056126.1:p.(Asp406Asn)	NC_000002.11:g.220432843C>T	VUS	1 lab	311566801f
X:17750367 NHS C>A	X	17750367	17750367	C	A	NHS	c.4739C>A	NM_001291867.2	NP_001278796.1:p.(Ser1580Tyr)	NC_000023.10:g.17750367C>A	VUS	1 lab	31178ecbaa
2:230678650 TRIP12 G>A	2	230678650	230678650	G	A	TRIP12	c.1922C>T	NM_001348323.3	NP_001335252.1:p.(Thr641Met)	NC_000002.11:g.230678650G>A	(Likely) benign	1 lab	3117de65fd
10:13852915 FRMD4A G>A	10	13852915	13852915	G	A	FRMD4A	c.112-7C>T	NM_018027.5	NP_060497.3:p.?	NC_000010.10:g.13852915G>A	(Likely) benign	1 lab	3118969461
13:32906498 BRCA2 G>A	13	32906498	32906498	G	A	BRCA2	c.883G>A	NM_000059.4	NP_000050.3:p.(Val295Ile)	NC_000013.10:g.32906498G>A	VUS	1 lab	3119515724
11:103104836 DYNC2H1 G>T	11	103104836	103104836	G	T	DYNC2H1	c.9514G>T	NM_001377.3	NP_001368.2:p.(Ala3172Ser)	NC_000011.9:g.103104836G>T	VUS	1 lab	31195af79a
1:234582720 TARBP1 C>T	1	234582720	234582720	C	T	TARBP1	c.1963G>A	NM_005646.4	NP_005637.3:p.(Gly655Arg)	NC_000001.10:g.234582720C>T	(Likely) benign	1 lab	3119a56814
19:15303038 NOTCH3 GC>G	19	15303038	15303042	GC	G	NOTCH3	c.411del	NM_000435.3	NP_000426.2:p.(Asp139MetfsTer97)	NC_000019.9:g.15303042del	VUS	1 lab	311a21d3c0
3:123044183 ADCY5 C>T	3	123044183	123044183	C	T	ADCY5	c.2074G>A	NM_183357.3	NP_899200.1:p.(Glu692Lys)	NC_000003.11:g.123044183C>T	VUS	1 lab	311b455f1c
12:42499739 GXYLT1 C>T	12	42499739	42499739	C	T	GXYLT1	c.745G>A	NM_173601.2	NP_775872.1:p.(Glu249Lys)	NC_000012.11:g.42499739C>T	(Likely) benign	1 lab	311d73d383
16:2049882 ZNF598 GTCC>G	16	2049882	2049898	GTCC	G	ZNF598	c.1665_1667del	NM_178167.5	NP_835461.2:p.(Glu555del)	NC_000016.9:g.2049896_2049898del	(Likely) benign	1 lab	311f6d56e5
2:215645366 BARD1 GGACTA>G	2	215645366	215645374	GGACTA	G	BARD1	c.1227_1231del	NM_000465.4	NP_000456.2:p.(Ser410LeufsTer16)	NC_000002.11:g.215645370_215645374del	(Likely) pathogenic	1 lab	31201ef99f
X:115594011 CT83 A>T	X	115594011	115594011	A	T	CT83	c.7T>A	NM_001017978.4	NP_001017978.1:p.(Phe3Ile)	NC_000023.10:g.115594011A>T	(Likely) benign	1 lab	3120716061
17:40371364 STAT5B G>T	17	40371364	40371364	G	T	STAT5B	c.799C>A	NM_012448.4	NP_036580.2:p.(Pro267Thr)	NC_000017.10:g.40371364G>T	VUS	1 lab	3120ef8252
X:7137734 STS G>A	X	7137734	7137734	G	A	STS	c.-5+28685G>A	NM_001320752.2	NP_001307681.2:p.?	NC_000023.10:g.7137734G>A	(Likely) benign	1 lab	312340d4c5
7:47906069 PKD1L1 C>T	7	47906069	47906069	C	T	PKD1L1	c.4040G>A	NM_138295.5	NP_612152.1:p.(Arg1347Gln)	NC_000007.13:g.47906069C>T	(Likely) benign	1 lab	3123f90eb4
7:47870953 PKD1L1 G>A	7	47870953	47870953	G	A	PKD1L1	c.6338-3C>T	NM_138295.5	NP_612152.1:p.?	NC_000007.13:g.47870953G>A	VUS	1 lab	31247250e3
5:89913690 ADGRV1 A>G	5	89913690	89913690	A	G	ADGRV1	c.277A>G	NM_032119.4	NP_115495.3:p.(Asn93Asp)	NC_000005.9:g.89913690A>G	(Likely) benign	1 lab	312554dc34
22:41895860 ACO2 G>A	22	41895860	41895860	G	A	ACO2	c.167G>A	NM_001098.3	NP_001089.1:p.(Arg56His)	NC_000022.10:g.41895860G>A	VUS	1 lab	3125a286cd
19:14034502 CC2D1A C>T	19	14034502	14034502	C	T	CC2D1A	c.1824-6C>T	NM_017721.5	NP_060191.3:p.?	NC_000019.9:g.14034502C>T	(Likely) benign	1 lab	31294de20c
4:183650224 TENM3 C>A	4	183650224	183650224	C	A	TENM3	c.2475C>A	NM_001080477.4	NP_001073946.1:p.(Ser825Arg)	NC_000004.11:g.183650224C>A	VUS	1 lab	3129d62e52
18:43535169 EPG5 G>C	18	43535169	43535169	G	C	EPG5	c.199C>G	NM_020964.3	NP_066015.2:p.(Gln67Glu)	NC_000018.9:g.43535169G>C	VUS	1 lab	3129d784b4
13:20216248 MPHOSPH8 A>G	13	20216248	20216248	A	G	MPHOSPH8	c.214-7A>G	NM_017520.4	NP_059990.2:p.?	NC_000013.10:g.20216248A>G	VUS	1 lab	3129fc9e6e
22:31011389 TCN2 G>C	22	31011389	31011389	G	C	TCN2	c.682G>C	NM_000355.4	NP_000346.2:p.(Glu228Gln)	NC_000022.10:g.31011389G>C	(Likely) benign	1 lab	312ad247cd
8:42128942 IKBKB C>T	8	42128942	42128942	C	T	IKBKB	c.-64C>T	NM_001556.3	NP_001547.1:p.?	NC_000008.10:g.42128942C>T	(Likely) benign	1 lab	312af19046
21:47423445 COL6A1 C>T	21	47423445	47423445	C	T	COL6A1	c.2605C>T	NM_001848.3	NP_001839.2:p.(His869Tyr)	NC_000021.8:g.47423445C>T	VUS	1 lab	312b70d79a
17:34079477 GAS2L2 G>A	17	34079477	34079477	G	A	GAS2L2	c.385+8C>T	NM_139285.4	NP_644814.1:p.?	NC_000017.10:g.34079477G>A	(Likely) benign	1 lab	312c30cb96
8:120103401 COLEC10 A>C	8	120103401	120103401	A	C	COLEC10	c.234A>C	NM_006438.5	NP_006429.2:p.(Glu78Asp)	NC_000008.10:g.120103401A>C	VUS	1 lab	312c39cae7
18:28934708 DSG1 C>G	18	28934708	28934708	C	G	DSG1	c.2549C>G	NM_001942.4	NP_001933.2:p.(Ser850Cys)	NC_000018.9:g.28934708C>G	VUS	1 lab	312cadccc4
2:223067387 PAX3 T>C	2	223067387	223067387	T	C	PAX3	c.1174-478A>G	NM_181458.4	NP_852123.1:p.?	NC_000002.11:g.223067387T>C	(Likely) benign	1 lab	312d4d05b4
5:141035334 ARAP3 A>G	5	141035334	141035334	A	G	ARAP3	c.3973-9T>C	NM_022481.6	NP_071926.4:p.?	NC_000005.9:g.141035334A>G	(Likely) benign	1 lab	312d7b2d2e
19:14516668 ADGRE5 A>T	19	14516668	14516668	A	T	ADGRE5	c.1738A>T	NM_078481.4	NP_510966.1:p.(Thr580Ser)	NC_000019.9:g.14516668A>T	(Likely) benign	1 lab	312e4dee74
12:49438640 KMT2D C>T	12	49438640	49438640	C	T	KMT2D	c.4850G>A	NM_003482.4	NP_003473.3:p.(Arg1617Gln)	NC_000012.11:g.49438640C>T	VUS	1 lab	312e6c0d69
2:152348284 NEB G>A	2	152348284	152348284	G	A	NEB	c.25063C>T	NM_001164508.2	NP_001157980.2:p.(Arg8355Cys)	NC_000002.11:g.152348284G>A	VUS	1 lab	313001834b
14:76543011 IFT43 G>A	14	76543011	76543011	G	A	IFT43	c.296-5627G>A	NM_001102564.3	NP_001096034.1:p.?	NC_000014.8:g.76543011G>A	(Likely) benign	1 lab	3133584632
7:44274027 CAMK2B C>T	7	44274027	44274027	C	T	CAMK2B	c.1093G>A	NM_001220.5	NP_001211.3:p.(Ala365Thr)	NC_000007.13:g.44274027C>T	(Likely) benign	1 lab	3133cd4199
9:119460832 TRIM32 C>G	9	119460832	119460832	C	G	TRIM32	c.811C>G	NM_012210.3	NP_036342.2:p.(Arg271Gly)	NC_000009.11:g.119460832C>G	(Likely) benign	1 lab	1d5bc144ce
5:42565997 GHR G>A	5	42565997	42565997	G	A	GHR	c.21G>A	NM_000163.5	NP_000154.1:p.(Leu7=)	NC_000005.9:g.42565997G>A	(Likely) benign	1 lab	3134bcb8f1
17:67111081 ABCA6 AAGAAT>A	17	67111081	67111090	AAGAAT	A	ABCA6	c.1607-8_1607-4del	NM_080284.3	NP_525023.2:p.?	NC_000017.10:g.67111086_67111090del	(Likely) benign	1 lab	31352438ea
10:102733021 SEMA4G G>C	10	102733021	102733021	G	C	SEMA4G	c.260G>C	NM_017893.4	NP_060363.2:p.(Gly87Ala)	NC_000010.10:g.102733021G>C	(Likely) benign	1 lab	313621cd5f
16:30100271 TBX6 TG>T	16	30100271	30100276	TG	T	TBX6	c.613del	NM_004608.4	NP_004599.2:p.(His205ThrfsTer4)	NC_000016.9:g.30100276del	VUS	1 lab	31372bb78c
19:12868805 BEST2 A>G	19	12868805	12868805	A	G	BEST2	c.1444A>G	NM_017682.3	NP_060152.2:p.(Ser482Gly)	NC_000019.9:g.12868805A>G	(Likely) benign	1 lab	31373a191e
12:14839112 GUCY2C G>C	12	14839112	14839112	G	C	GUCY2C	c.378C>G	NM_004963.4	NP_004954.2:p.(Tyr126Ter)	NC_000012.11:g.14839112G>C	VUS	1 lab	3139b17916
11:124766169 ROBO4 C>T	11	124766169	124766169	C	T	ROBO4	c.604G>A	NM_019055.6	NP_061928.4:p.(Glu202Lys)	NC_000011.9:g.124766169C>T	(Likely) benign	1 lab	3139c01b7d
20:60909262 LAMA5 C>T	20	60909262	60909262	C	T	LAMA5	c.2719G>A	NM_005560.6	NP_005551.3:p.(Ala907Thr)	NC_000020.10:g.60909262C>T	VUS	1 lab	313a3955e7
7:142573376 TRPV6 G>A	7	142573376	142573376	G	A	TRPV6	c.1087C>T	NM_018646.6	NP_061116.5:p.(Arg363Trp)	NC_000007.13:g.142573376G>A	VUS	1 lab	313ccbff96
17:11670285 DNAH9 CAAAAA>C	17	11670285	11670302	CAAAAA	C	DNAH9	c.7171-1472_7171-1468del	NM_001372.4	NP_001363.2:p.?	NC_000017.10:g.11670298_11670302del	(Likely) benign	1 lab	313e66d339
4:1806174 FGFR3 T>C	4	1806174	1806174	T	C	FGFR3	c.1193T>C	NM_000142.5	NP_000133.1:p.(Leu398Pro)	NC_000004.11:g.1806174T>C	VUS	1 lab	37ccef3ce0
10:78838813 KCNMA1 G>A	10	78838813	78838813	G	A	KCNMA1	c.1593+426C>T	NM_001161352.2	NP_001154824.1:p.?	NC_000010.10:g.78838813G>A	(Likely) benign	1 lab	313fa197df
16:89346690 ANKRD11 G>A	16	89346690	89346690	G	A	ANKRD11	c.6260C>T	NM_013275.6	NP_037407.4:p.(Ala2087Val)	NC_000016.9:g.89346690G>A	VUS	1 lab	3140514e0e
19:15296206 NOTCH3 A>T	19	15296206	15296206	A	T	NOTCH3	c.2158T>A	NM_000435.3	NP_000426.2:p.(Cys720Ser)	NC_000019.9:g.15296206A>T	(Likely) pathogenic	1 lab	3142ab5e6f
3:138664784 FOXL2 C>A	3	138664784	138664784	C	A	FOXL2	c.781G>T	NM_023067.4	NP_075555.1:p.(Val261Leu)	NC_000003.11:g.138664784C>A	(Likely) benign	1 lab	314351d59b
5:42718546 GHR A>G	5	42718546	42718546	A	G	GHR	c.946-9A>G	NM_000163.5	NP_000154.1:p.?	NC_000005.9:g.42718546A>G	(Likely) benign	1 lab	3143d238b4
7:83119473 SEMA3E A>G	7	83119473	83119473	A	G	SEMA3E	c.233T>C	NM_012431.3	NP_036563.1:p.(Val78Ala)	NC_000007.13:g.83119473A>G	VUS	1 lab	31461de30d
X:48339565 FTSJ1 T>C	X	48339565	48339565	T	C	FTSJ1	c.388T>C	NM_012280.4	NP_036412.1:p.(Tyr130His)	NC_000023.10:g.48339565T>C	VUS	1 lab	3146b5eeaa
19:10247814 DNMT1 T>C	19	10247814	10247814	T	C	DNMT1	c.4436A>G	NM_001130823.3	NP_001124295.1:p.(Lys1479Arg)	NC_000019.9:g.10247814T>C	VUS	1 lab	314790caa4
11:44135775 EXT2 C>T	11	44135775	44135775	C	T	EXT2	c.667C>T	NM_207122.2	NP_997005.1:p.(Arg223Trp)	NC_000011.9:g.44135775C>T	VUS	1 lab	31483bf40f
15:89398825 ACAN C>A	15	89398825	89398825	C	A	ACAN	c.3009C>A	NM_001369268.1	NP_001356197.1:p.(Thr1003=)	NC_000015.9:g.89398825C>A	(Likely) benign	1 lab	314961b697
4:170400632 NEK1 A>C	4	170400632	170400632	A	C	NEK1	c.2061T>G	NM_001199397.3	NP_001186326.1:p.(His687Gln)	NC_000004.11:g.170400632A>C	(Likely) benign	1 lab	31497829b1
X:153063530 SSR4 AGAGGAATAAC>A	X	153063530	153063545	AGAGGAATAAC	A	SSR4	c.362_371del	NM_006280.3	NP_006271.1:p.(Asn121ThrfsTer36)	NC_000023.10:g.153063536_153063545del	(Likely) pathogenic	1 lab	314994ae0e
12:80170226 PPP1R12A C>A	12	80170226	80170226	C	A	PPP1R12A	c.3007-431G>T	NM_002480.3	NP_002471.1:p.?	NC_000012.11:g.80170226C>A	(Likely) benign	1 lab	3149b039e1
3:105438902 CBLB T>C	3	105438902	105438902	T	C	CBLB	c.1396A>G	NM_170662.5	NP_733762.2:p.(Asn466Asp)	NC_000003.11:g.105438902T>C	(Likely) benign	1 lab	314a1a3be4
17:11840723 DNAH9 A>C	17	11840723	11840723	A	C	DNAH9	c.12544A>C	NM_001372.4	NP_001363.2:p.(Asn4182His)	NC_000017.10:g.11840723A>C	VUS	1 lab	314b7851f0
2:179702431 CCDC141 G>A	2	179702431	179702431	G	A	CCDC141	c.3515C>T	NM_173648.4	NP_775919.3:p.(Thr1172Ile)	NC_000002.11:g.179702431G>A	(Likely) benign	1 lab	314e391840
X:13778833 OFD1 C>A	X	13778833	13778833	C	A	OFD1	c.2254C>A	NM_003611.3	NP_003602.1:p.(Leu752Met)	NC_000023.10:g.13778833C>A	VUS	1 lab	314e8e0255
22:50962301 SCO2 G>A	22	50962301	50962301	G	A	SCO2	c.540C>T	NM_005138.3	NP_005129.2:p.(Tyr180=)	NC_000022.10:g.50962301G>A	(Likely) benign	1 lab	314f19420d
6:117203566 RFX6 C>G	6	117203566	117203566	C	G	RFX6	c.541C>G	NM_173560.4	NP_775831.2:p.(Arg181Gly)	NC_000006.11:g.117203566C>G	VUS	1 lab	314fe002be
20:44521137 CTSA C>T	20	44521137	44521137	C	T	CTSA	c.444+14C>T	NM_000308.4	NP_000299.3:p.?	NC_000020.10:g.44521137C>T	(Likely) benign	1 lab	31517806ec
6:42025159 TAF8 GC>G	6	42025159	42025162	GC	G	TAF8	c.400del	NM_138572.3	NP_612639.2:p.(Leu134SerfsTer80)	NC_000006.11:g.42025162del	(Likely) pathogenic	1 lab	3152953391
15:72549679 PARP6 T>TC	15	72549679	72549684	T	TC	PARP6	c.999+9dup	NM_001323532.2	NP_001310461.1:p.?	NC_000015.9:g.72549684dup	(Likely) benign	1 lab	3152e49afb
19:45867247 ERCC2 G>C	19	45867247	45867247	G	C	ERCC2	c.946C>G	NM_000400.4	NP_000391.1:p.(Gln316Glu)	NC_000019.9:g.45867247G>C	(Likely) benign	1 lab	3153566947
15:99671958 SYNM C>G	15	99671958	99671958	C	G	SYNM	c.3393C>G	NM_145728.3	NP_663780.2:p.(Pro1131=)	NC_000015.9:g.99671958C>G	(Likely) benign	1 lab	31563fbfb2
10:93757365 BTAF1 A>G	10	93757365	93757365	A	G	BTAF1	c.3517A>G	NM_003972.3	NP_003963.1:p.(Met1173Val)	NC_000010.10:g.93757365A>G	VUS	1 lab	31571fb80d
19:47876076 DHX34 C>T	19	47876076	47876076	C	T	DHX34	c.1858C>T	NM_014681.6	NP_055496.2:p.(Arg620Cys)	NC_000019.9:g.47876076C>T	VUS	1 lab	31589c05ad
2:26951123 KCNK3 C>T	2	26951123	26951123	C	T	KCNK3	c.872C>T	NM_002246.3	NP_002237.1:p.(Ala291Val)	NC_000002.11:g.26951123C>T	VUS	1 lab	3159c73495
5:34936259 DNAJC21 C>T	5	34936259	34936259	C	T	DNAJC21	c.326C>T	NM_001012339.3	NP_001012339.2:p.(Thr109Met)	NC_000005.9:g.34936259C>T	VUS	1 lab	315b24e0f4
7:100350520 ZAN C>T	7	100350520	100350520	C	T	ZAN	c.2792C>T	NM_003386.3	NP_003377.2:p.(Thr931Ile)	NC_000007.13:g.100350520C>T	(Likely) benign	1 lab	315bb4adb2
14:21547088 ARHGEF40 G>T	14	21547088	21547088	G	T	ARHGEF40	c.2292G>T	NM_018071.5	NP_060541.3:p.(Glu764Asp)	NC_000014.8:g.21547088G>T	(Likely) benign	1 lab	315d1e68c5
12:121426701 HNF1A G>A	12	121426701	121426701	G	A	HNF1A	c.392G>A	NM_000545.8	NP_000536.6:p.(Arg131Gln)	NC_000012.11:g.121426701G>A	(Likely) pathogenic	1 lab	315d3026a0
6:51923153 PKHD1 G>A	6	51923153	51923153	G	A	PKHD1	c.1480C>T	NM_138694.4	NP_619639.3:p.(Arg494Ter)	NC_000006.11:g.51923153G>A	(Likely) pathogenic	1 lab	315f39ca9b
16:72830644 ZFHX3 G>C	16	72830644	72830644	G	C	ZFHX3	c.5937C>G	NM_006885.4	NP_008816.3:p.(Asn1979Lys)	NC_000016.9:g.72830644G>C	VUS	1 lab	31609e8d64
X:21627577 CNKSR2 T>C	X	21627577	21627577	T	C	CNKSR2	c.2534T>C	NM_014927.5	NP_055742.2:p.(Phe845Ser)	NC_000023.10:g.21627577T>C	VUS	1 lab	316148364a
1:24192072 FUCA1 A>G	1	24192072	24192072	A	G	FUCA1	c.433T>C	NM_000147.5	NP_000138.2:p.(Trp145Arg)	NC_000001.10:g.24192072A>G	(Likely) benign	1 lab	31617c1803
11:70507855 SHANK2 G>A	11	70507855	70507855	G	A	SHANK2	c.1854-72C>T	NM_012309.5	NP_036441.2:p.?	NC_000011.9:g.70507855G>A	VUS	1 lab	316359d26f
16:17232361 XYLT1 T>C	16	17232361	17232361	T	C	XYLT1	c.1615A>G	NM_022166.4	NP_071449.1:p.(Ser539Gly)	NC_000016.9:g.17232361T>C	VUS	1 lab	3164e9c21a
8:38008279 STAR T>A	8	38008279	38008279	T	A	STAR	c.58A>T	NM_000349.3	NP_000340.2:p.(Met20Leu)	NC_000008.10:g.38008279T>A	VUS	1 lab	316536ca13
19:17449369 GTPBP3 C>G	19	17449369	17449369	C	G	GTPBP3	c.410C>G	NM_032620.4	NP_116009.2:p.(Pro137Arg)	NC_000019.9:g.17449369C>G	VUS	1 lab	3165858a70
22:38109302 TRIOBP T>C	22	38109302	38109302	T	C	TRIOBP	c.340T>C	NM_001039141.3	NP_001034230.1:p.(Tyr114His)	NC_000022.10:g.38109302T>C	(Likely) benign	1 lab	316590d333
8:145013597 PLEC G>A	8	145013597	145013597	G	A	PLEC	c.33C>T	NM_201384.3	NP_958786.1:p.(Pro11=)	NC_000008.10:g.145013597G>A	(Likely) benign	1 lab	31664469c6
20:4155752 SMOX G>A	20	4155752	4155752	G	A	SMOX	c.50G>A	NM_175839.3	NP_787033.1:p.(Arg17His)	NC_000020.10:g.4155752G>A	VUS	1 lab	3166eccc3f
X:153648400 TAFAZZIN C>T	X	153648400	153648400	C	T	TAFAZZIN	c.613C>T	NM_000116.5	NP_000107.1:p.(Leu205Phe)	NC_000023.10:g.153648400C>T	VUS	1 lab	31674839c0
17:56290387 MKS1 C>T	17	56290387	56290387	C	T	MKS1	c.814G>A	NM_017777.4	NP_060247.2:p.(Ala272Thr)	NC_000017.10:g.56290387C>T	(Likely) benign	1 lab	3167c88715
10:70204684 DNA2 T>C	10	70204684	70204684	T	C	DNA2	c.1214A>G	NM_001080449.3	NP_001073918.2:p.(Tyr405Cys)	NC_000010.10:g.70204684T>C	VUS	1 lab	316911ed8f
17:73518096 TSEN54 C>T	17	73518096	73518096	C	T	TSEN54	c.934C>T	NM_207346.3	NP_997229.2:p.(His312Tyr)	NC_000017.10:g.73518096C>T	(Likely) benign	1 lab	316a78e3cf
19:38939091 RYR1 G>C	19	38939091	38939091	G	C	RYR1	c.897G>C	NM_000540.3	NP_000531.2:p.(Val299=)	NC_000019.9:g.38939091G>C	(Likely) benign	1 lab	316ac93089
16:53967952 FTO A>G	16	53967952	53967952	A	G	FTO	c.1295A>G	NM_001080432.3	NP_001073901.1:p.(Asn432Ser)	NC_000016.9:g.53967952A>G	(Likely) benign	1 lab	316d4e2ea0
19:42860230 MEGF8 C>A	19	42860230	42860230	C	A	MEGF8	c.4393-5C>A	NM_001271938.2	NP_001258867.1:p.?	NC_000019.9:g.42860230C>A	(Likely) benign	1 lab	316d58b2e6
14:99641553 BCL11B C>G	14	99641553	99641553	C	G	BCL11B	c.1620G>C	NM_138576.4	NP_612808.1:p.(Glu540Asp)	NC_000014.8:g.99641553C>G	(Likely) benign	1 lab	316f0d5eb7
1:220331135 RAB3GAP2 C>G	1	220331135	220331135	C	G	RAB3GAP2	c.3336+9G>C	NM_012414.4	NP_036546.2:p.?	NC_000001.10:g.220331135C>G	(Likely) benign	1 lab	317192fad1
15:84561468 ADAMTSL3 T>C	15	84561468	84561468	T	C	ADAMTSL3	c.1295T>C	NM_207517.3	NP_997400.2:p.(Val432Ala)	NC_000015.9:g.84561468T>C	(Likely) benign	1 lab	3171c2e403
6:117248455 RFX6 CTA>C	6	117248455	117248458	CTA	C	RFX6	c.2153_2154del	NM_173560.4	NP_775831.2:p.(Tyr718SerfsTer14)	NC_000006.11:g.117248457_117248458del	(Likely) pathogenic	1 lab	31738eed0a
3:38524736 ACVR2B G>A	3	38524736	38524736	G	A	ACVR2B	c.1452G>A	NM_001106.4	NP_001097.2:p.(Ser484=)	NC_000003.11:g.38524736G>A	(Likely) benign	1 lab	3173a979d7
16:27640114 KATNIP CT>C	16	27640114	27640116	CT	C	KATNIP	c.275del	NM_015202.5	NP_056017.4:p.(Phe92SerfsTer27)	NC_000016.9:g.27640116del	(Likely) pathogenic	1 lab	3173b5e1cd
X:153647933 TAFAZZIN A>G	X	153647933	153647933	A	G	TAFAZZIN	c.512A>G	NM_000116.5	NP_000107.1:p.(His171Arg)	NC_000023.10:g.153647933A>G	VUS	1 lab	1d61f8169c
X:101910774 GPRASP1 T>C	X	101910774	101910774	T	C	GPRASP1	c.1933T>C	NM_001184727.2	NP_001171656.1:p.(Cys645Arg)	NC_000023.10:g.101910774T>C	VUS	1 lab	3174bb71bb
9:35067942 VCP C>T	9	35067942	35067942	C	T	VCP	c.248G>A	NM_007126.3	NP_009057.1:p.(Arg83Gln)	NC_000009.11:g.35067942C>T	(Likely) pathogenic	1 lab	1d625e0fd5
20:60928223 LAMA5 C>T	20	60928223	60928223	C	T	LAMA5	c.535G>A	NM_005560.6	NP_005551.3:p.(Gly179Ser)	NC_000020.10:g.60928223C>T	VUS	1 lab	317607254c
12:113614651 DDX54 G>C	12	113614651	113614651	G	C	DDX54	c.746C>G	NM_024072.4	NP_076977.3:p.(Ala249Gly)	NC_000012.11:g.113614651G>C	VUS	1 lab	3177bb196f
17:10538192 MYH3 C>T	17	10538192	10538192	C	T	MYH3	c.4321G>A	NM_002470.4	NP_002461.2:p.(Ala1441Thr)	NC_000017.10:g.10538192C>T	VUS	1 lab	317996c00d
1:151379390 POGZ G>A	1	151379390	151379390	G	A	POGZ	c.2542C>T	NM_015100.4	NP_055915.2:p.(Arg848Trp)	NC_000001.10:g.151379390G>A	(Likely) benign	1 lab	3179ba1eb3
13:32749679 FRY A>G	13	32749679	32749679	A	G	FRY	c.2335-4A>G	NM_023037.3	NP_075463.2:p.?	NC_000013.10:g.32749679A>G	VUS	1 lab	317b11807f
9:15447191 SNAPC3 T>G	9	15447191	15447191	T	G	SNAPC3	c.681T>G	NM_001039697.2	NP_001034786.1:p.(Ile227Met)	NC_000009.11:g.15447191T>G	(Likely) benign	1 lab	317b823051
12:46246688 ARID2 T>C	12	46246688	46246688	T	C	ARID2	c.4773+9T>C	NM_152641.4	NP_689854.2:p.?	NC_000012.11:g.46246688T>C	(Likely) benign	1 lab	317c10ea41
14:95906406 SYNE3 CA>C	14	95906406	95906408	CA	C	SYNE3	c.1917del	NM_152592.6	NP_689805.3:p.(Val640TrpfsTer27)	NC_000014.8:g.95906408del	VUS	1 lab	317c788841
16:2152383 PKD1 G>C	16	2152383	2152383	G	C	PKD1	c.9200C>G	NM_001009944.3	NP_001009944.3:p.(Pro3067Arg)	NC_000016.9:g.2152383G>C	VUS	1 lab	317ee58610
19:7267730 INSR A>G	19	7267730	7267730	A	G	INSR	c.278T>C	NM_000208.4	NP_000199.2:p.(Val93Ala)	NC_000019.9:g.7267730A>G	(Likely) benign	1 lab	3180be7846
15:93470320 CHD2 A>T	15	93470320	93470320	A	T	CHD2	c.295-154A>T	NM_001271.4	NP_001262.3:p.?	NC_000015.9:g.93470320A>T	(Likely) benign	1 lab	1d68219775
19:1388602 NDUFS7 G>A	19	1388602	1388602	G	A	NDUFS7	c.122+10G>A	NM_024407.5	NP_077718.3:p.?	NC_000019.9:g.1388602G>A	(Likely) benign	1 lab	3182dc8902
3:47125604 SETD2 A>G	3	47125604	47125604	A	G	SETD2	c.5666T>C	NM_014159.7	NP_054878.5:p.(Met1889Thr)	NC_000003.11:g.47125604A>G	(Likely) benign	1 lab	1cf59ad0c0
16:10032410 GRIN2A T>C	16	10032410	10032410	T	C	GRIN2A	c.415-2A>G	NM_000833.5	NP_000824.1:p.?	NC_000016.9:g.10032410T>C	(Likely) pathogenic	1 lab	1d69a82ad7
9:123914765 CNTRL G>T	9	123914765	123914765	G	T	CNTRL	c.3966G>T	NM_007018.6	NP_008949.4:p.(Glu1322Asp)	NC_000009.11:g.123914765G>T	VUS	1 lab	3184b52b96
6:133844183 EYA4 C>T	6	133844183	133844183	C	T	EYA4	c.1617-11C>T	NM_004100.5	NP_004091.3:p.?	NC_000006.11:g.133844183C>T	(Likely) benign	1 lab	1d6dbcb061
6:45390442 RUNX2 G>T	6	45390442	45390442	G	T	RUNX2	c.171G>T	NM_001024630.4	NP_001019801.3:p.(Gln57His)	NC_000006.11:g.45390442G>T	(Likely) benign	1 lab	31899d0aa7
10:101295199 NKX2-3 GGCCGCCGCC>G	10	101295199	101295228	GGCCGCCGCC	G	NKX2-3	c.837_845del	NM_145285.3	NP_660328.2:p.(Ala284_Ala286del)	NC_000010.10:g.101295220_101295228del	VUS	1 lab	318b2c1be7
15:58284908 ALDH1A2 T>G	15	58284908	58284908	T	G	ALDH1A2	c.793A>C	NM_003888.4	NP_003879.2:p.(Thr265Pro)	NC_000015.9:g.58284908T>G	VUS	1 lab	318b5a6447
18:77211738 NFATC1 G>A	18	77211738	77211738	G	A	NFATC1	c.1825G>A	NM_001278669.2	NP_001265598.1:p.(Val609Met)	NC_000018.9:g.77211738G>A	(Likely) benign	1 lab	318c2023f6
17:56438309 RNF43 G>A	17	56438309	56438309	G	A	RNF43	c.688-4C>T	NM_017763.6	NP_060233.3:p.?	NC_000017.10:g.56438309G>A	VUS	1 lab	318d9edb20
9:5080701 JAK2 C>A	9	5080701	5080701	C	A	JAK2	c.2434+18C>A	NM_004972.4	NP_004963.1:p.?	NC_000009.11:g.5080701C>A	(Likely) benign	1 lab	318e0fe5cd
3:184072320 CLCN2 G>A	3	184072320	184072320	G	A	CLCN2	c.1507+16C>T	NM_004366.6	NP_004357.3:p.?	NC_000003.11:g.184072320G>A	(Likely) benign	1 lab	318f9c0b2e
6:42153486 GUCA1B T>C	6	42153486	42153486	T	C	GUCA1B	c.407A>G	NM_002098.6	NP_002089.4:p.(Gln136Arg)	NC_000006.11:g.42153486T>C	(Likely) benign	1 lab	3190a7785f
19:55663203 TNNI3 C>T	19	55663203	55663203	C	T	TNNI3	c.632G>A	NM_000363.4	NP_000354.4:p.(Ter211=)	NC_000019.9:g.55663203C>T	VUS	1 lab	1d70143a65
21:46047713 TSPEAR TGCTGCCAGCAGTCTG>T	21	46047713	46047737	TGCTGCCAGCAGTCTG	T	TSPEAR	c.83-59839_83-59825del	NM_144991.3	NP_659428.2:p.?	NC_000021.8:g.46047723_46047737del	VUS	1 lab	31919642fd
2:179403808 TTN T>A	2	179403808	179403808	T	A	TTN	c.98854A>T	NM_001267550.2	NP_001254479.2:p.(Ile32952Phe)	NC_000002.11:g.179403808T>A	VUS	1 lab	31919fe863
7:44187417 GCK G>A	7	44187417	44187417	G	A	GCK	c.695C>T	NM_000162.5	NP_000153.1:p.(Ala232Val)	NC_000007.13:g.44187417G>A	VUS	1 lab	3191fee477
12:48367218 COL2A1 A>G	12	48367218	48367218	A	G	COL2A1	c.4436T>C	NM_001844.5	NP_001835.3:p.(Val1479Ala)	NC_000012.11:g.48367218A>G	VUS	1 lab	3193356204
17:10543692 MYH3 C>G	17	10543692	10543692	C	G	MYH3	c.2384G>C	NM_002470.4	NP_002461.2:p.(Gly795Ala)	NC_000017.10:g.10543692C>G	VUS	1 lab	3194033f71
16:1837837 NUBP2 C>T	16	1837837	1837837	C	T	NUBP2	c.489+5C>T	NM_012225.4	NP_036357.1:p.?	NC_000016.9:g.1837837C>T	VUS	1 lab	31942de7be
X:70347222 MED12 C>T	X	70347222	70347222	C	T	MED12	c.2886C>T	NM_005120.3	NP_005111.2:p.(Ser962=)	NC_000023.10:g.70347222C>T	(Likely) benign	1 lab	3194ae82b3
17:40370887 STAT5B C>T	17	40370887	40370887	C	T	STAT5B	c.843G>A	NM_012448.4	NP_036580.2:p.(Lys281=)	NC_000017.10:g.40370887C>T	(Likely) benign	1 lab	3195397cad
15:40993974 RAD51 ATTT>A	15	40993974	40994000	ATTT	A	RAD51	c.225+599_225+601del	NM_002875.5	NP_002866.2:p.?	NC_000015.9:g.40993998_40994000del	(Likely) benign	1 lab	31969a5dcf
11:108114677 ATM A>T	11	108114677	108114677	A	T	ATM	c.497-3A>T	NM_000051.4	NP_000042.3:p.?	NC_000011.9:g.108114677A>T	(Likely) benign	1 lab	3196c71501
2:200193606 SATB2 C>T	2	200193606	200193606	C	T	SATB2	c.1201G>A	NM_001172509.2	NP_001165980.1:p.(Glu401Lys)	NC_000002.11:g.200193606C>T	(Likely) pathogenic	1 lab	3197f62ec8
5:156378729 TIMD4 C>T	5	156378729	156378729	C	T	TIMD4	c.473G>A	NM_138379.3	NP_612388.2:p.(Arg158Gln)	NC_000005.9:g.156378729C>T	(Likely) benign	1 lab	31980cdfe1
11:429648 ANO9 C>T	11	429648	429648	C	T	ANO9	c.837G>A	NM_001012302.3	NP_001012302.2:p.(Thr279=)	NC_000011.9:g.429648C>T	VUS	1 lab	319841349d
18:56057980 NEDD4L C>T	18	56057980	56057980	C	T	NEDD4L	c.2752+6C>T	NM_001144967.3	NP_001138439.1:p.?	NC_000018.9:g.56057980C>T	(Likely) benign	1 lab	319b699363
4:140811463 MAML3 G>A	4	140811463	140811463	G	A	MAML3	c.1127C>T	NM_018717.5	NP_061187.3:p.(Ala376Val)	NC_000004.11:g.140811463G>A	(Likely) benign	1 lab	319bae3e9e
18:31318971 ASXL3 G>A	18	31318971	31318971	G	A	ASXL3	c.1603G>A	NM_030632.3	NP_085135.1:p.(Asp535Asn)	NC_000018.9:g.31318971G>A	(Likely) benign	1 lab	319c5c26ff
3:13670493 FBLN2 C>A	3	13670493	13670493	C	A	FBLN2	c.2658C>A	NM_001004019.2	NP_001004019.1:p.(Asn886Lys)	NC_000003.11:g.13670493C>A	VUS	1 lab	319eee0f31
9:135947056 CEL C>CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	9	135947056	135947106	C	CCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTG	CEL	c.2216_2217insGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC	NM_001807.6	NP_001798.3:p.(Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThrGlyAspSerGluAlaAlaProValProProThr)	NC_000009.11:g.135947105_135947106insGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCACGGGTGACTCTGAGGCTGCCCCTGTGCCCCCCAC	VUS	1 lab	31a15e11fe
2:189975010 COL5A2 G>T	2	189975010	189975010	G	T	COL5A2	c.263C>A	NM_000393.5	NP_000384.2:p.(Pro88His)	NC_000002.11:g.189975010G>T	VUS	1 lab	1d71fb43b5
12:11546264 PRB2 C>T	12	11546264	11546264	C	T	PRB2	c.748G>A	NM_006248.4	NP_006239.3:p.(Gly250Ser)	NC_000012.11:g.11546264C>T	(Likely) benign	1 lab	31a305a483
16:2164282 PKD1 TTCCACCACCACG>T	16	2164282	2164302	TTCCACCACCACG	T	PKD1	c.2730_2741del	NM_001009944.3	NP_001009944.3:p.(Asp910_Val913del)	NC_000016.9:g.2164291_2164302del	(Likely) pathogenic	1 lab	31a3358e71
11:17416720 ABCC8 GA>G	11	17416720	17416721	GA	G	ABCC8	c.4409del	NM_000352.6	NP_000343.2:p.(Leu1470ProfsTer27)	NC_000011.9:g.17416721del	(Likely) pathogenic	1 lab	31a478fe51
10:89503199 PAPSS2 G>A	10	89503199	89503199	G	A	PAPSS2	c.1292G>A	NM_001015880.2	NP_001015880.1:p.(Arg431His)	NC_000010.10:g.89503199G>A	(Likely) benign	1 lab	31a4b1c48f
17:49237370 NME1 C>G	17	49237370	49237370	C	G	NME1	c.156C>G	NM_000269.3	NP_000260.1:p.(Tyr52Ter)	NC_000017.10:g.49237370C>G	VUS	1 lab	31a6b6015f
16:84104296 MBTPS1 C>T	16	84104296	84104296	C	T	MBTPS1	c.1679G>A	NM_003791.4	NP_003782.1:p.(Gly560Asp)	NC_000016.9:g.84104296C>T	VUS	1 lab	31a95605d3
17:36093543 HNF1B G>T	17	36093543	36093543	G	T	HNF1B	c.809+7C>A	NM_000458.4	NP_000449.1:p.?	NC_000017.10:g.36093543G>T	(Likely) benign	1 lab	31a988ac5b
7:82583052 PCLO G>A	7	82583052	82583052	G	A	PCLO	c.7217C>T	NM_033026.6	NP_149015.2:p.(Pro2406Leu)	NC_000007.13:g.82583052G>A	VUS	1 lab	31aa65e2a8
X:152936030 PNCK G>A	X	152936030	152936030	G	A	PNCK	c.914C>T	NM_001366977.1	NP_001353906.1:p.(Ser305Leu)	NC_000023.10:g.152936030G>A	VUS	1 lab	31b04e5441
7:35288416 TBX20 C>T	7	35288416	35288416	C	T	TBX20	c.418G>A	NM_001077653.2	NP_001071121.1:p.(Val140Met)	NC_000007.13:g.35288416C>T	VUS	1 lab	31b088cab8
1:237951370 RYR2 G>A	1	237951370	237951370	G	A	RYR2	c.13411G>A	NM_001035.3	NP_001026.2:p.(Gly4471Arg)	NC_000001.10:g.237951370G>A	(Likely) benign	1 lab	31b107903d
1:103467976 COL11A1 A>G	1	103467976	103467976	A	G	COL11A1	c.2097+8T>C	NM_001854.4	NP_001845.3:p.?	NC_000001.10:g.103467976A>G	(Likely) benign	1 lab	31b1df0c62
16:20970576 DNAH3 G>T	16	20970576	20970576	G	T	DNAH3	c.10613C>A	NM_001347886.2	NP_001334815.1:p.(Ala3538Asp)	NC_000016.9:g.20970576G>T	(Likely) benign	1 lab	31b21e23c5
8:20077817 ATP6V1B2 C>T	8	20077817	20077817	C	T	ATP6V1B2	c.1440C>T	NM_001693.4	NP_001684.2:p.(Gly480=)	NC_000008.10:g.20077817C>T	VUS	1 lab	31b3aaed39
12:53715207 AAAS G>T	12	53715207	53715207	G	T	AAAS	c.43C>A	NM_015665.6	NP_056480.1:p.(Gln15Lys)	NC_000012.11:g.53715207G>T	(Likely) pathogenic	1 lab	31b3e98482
2:16082695 MYCN G>C	2	16082695	16082695	G	C	MYCN	c.509G>C	NM_005378.6	NP_005369.2:p.(Arg170Pro)	NC_000002.11:g.16082695G>C	(Likely) benign	1 lab	31b4da6760
10:129905652 MKI67 C>T	10	129905652	129905652	C	T	MKI67	c.4452G>A	NM_002417.5	NP_002408.3:p.(Thr1484=)	NC_000010.10:g.129905652C>T	(Likely) benign	1 lab	31b5c6a27c
11:128680804 FLI1 C>T	11	128680804	128680804	C	T	FLI1	c.1280C>T	NM_002017.5	NP_002008.2:p.(Thr427Met)	NC_000011.9:g.128680804C>T	VUS	1 lab	31b6f065db
12:64858109 TBK1 T>TC	12	64858109	64858110	T	TC	TBK1	c.229-5_229-4insC	NM_013254.4	NP_037386.1:p.?	NC_000012.11:g.64858109_64858110insC	(Likely) benign	1 lab	379fb289a5
16:58610428 CNOT1 C>T	16	58610428	58610428	C	T	CNOT1	c.1643G>A	NM_016284.5	NP_057368.3:p.(Arg548Lys)	NC_000016.9:g.58610428C>T	VUS	1 lab	31b8e44eec
3:129202380 IFT122 G>A	3	129202380	129202380	G	A	IFT122	c.1706G>A	NM_052989.3	NP_443715.1:p.(Cys569Tyr)	NC_000003.11:g.129202380G>A	VUS	1 lab	31b9722f0e
4:15539556 CC2D2A A>C	4	15539556	15539556	A	C	CC2D2A	c.1799A>C	NM_001378615.1	NP_001365544.1:p.(Glu600Ala)	NC_000004.11:g.15539556A>C	VUS	1 lab	31bc21860a
7:83590852 SEMA3A TG>CA	7	83590852	83590853	TG	CA	SEMA3A	c.2150_2151inv	NM_006080.3	NP_006071.1:p.(Thr717Met)	NC_000007.13:g.83590852_83590853inv	VUS	1 lab	31bcee353d
6:29911970 HLA-A G>A	6	29911970	29911970	G	A	HLA-A	c.691G>A	NM_002116.8	NP_002107.3:p.(Gly231Ser)	NC_000006.11:g.29911970G>A	(Likely) benign	1 lab	1cf912634f
3:150877809 MED12L C>T	3	150877809	150877809	C	T	MED12L	c.1028C>T	NM_001393769.1	NP_001380698.1:p.(Pro343Leu)	NC_000003.11:g.150877809C>T	VUS	1 lab	31bfbef5d5
21:45706939 AIRE C>A	21	45706939	45706939	C	A	AIRE	c.386C>A	NM_000383.4	NP_000374.1:p.(Pro129His)	NC_000021.8:g.45706939C>A	VUS	1 lab	31c1d22bce
1:93300390 RPL5 G>A	1	93300390	93300390	G	A	RPL5	c.244G>A	NM_000969.5	NP_000960.2:p.(Glu82Lys)	NC_000001.10:g.93300390G>A	VUS	1 lab	31c310bf44
7:137776506 AKR1D1 T>A	7	137776506	137776506	T	A	AKR1D1	c.262-8T>A	NM_005989.4	NP_005980.1:p.?	NC_000007.13:g.137776506T>A	(Likely) benign	1 lab	31c3abcb6c
19:55858647 KMT5C C>T	19	55858647	55858647	C	T	KMT5C	c.1219C>T	NM_032701.4	NP_116090.2:p.(Arg407Cys)	NC_000019.9:g.55858647C>T	VUS	1 lab	31c41dfab0
X:71715066 HDAC8 G>A	X	71715066	71715066	G	A	HDAC8	c.490C>T	NM_018486.3	NP_060956.1:p.(Arg164Ter)	NC_000023.10:g.71715066G>A	(Likely) pathogenic	1 lab	31c478872f
5:178413590 GRM6 G>T	5	178413590	178413590	G	T	GRM6	c.1665C>A	NM_000843.4	NP_000834.2:p.(Cys555Ter)	NC_000005.9:g.178413590G>T	VUS	1 lab	31c5bfa99c
1:42657276 FOXJ3 G>T	1	42657276	42657276	G	T	FOXJ3	c.1049C>A	NM_014947.5	NP_055762.3:p.(Ser350Tyr)	NC_000001.10:g.42657276G>T	(Likely) benign	1 lab	31c5c9c792
1:22157788 HSPG2 C>T	1	22157788	22157788	C	T	HSPG2	c.11482G>A	NM_005529.7	NP_005520.4:p.(Glu3828Lys)	NC_000001.10:g.22157788C>T	VUS	1 lab	31c6d4bb3e
X:63410478 AMER1 C>T	X	63410478	63410478	C	T	AMER1	c.2689G>A	NM_152424.4	NP_689637.3:p.(Asp897Asn)	NC_000023.10:g.63410478C>T	VUS	1 lab	31c830b9d4
21:44488720 CBS T>A	21	44488720	44488720	T	A	CBS	c.215A>T	NM_000071.3	NP_000062.1:p.(Lys72Ile)	NC_000021.8:g.44488720T>A	VUS	1 lab	31c8a2bec4
3:125849099 ALDH1L1 C>T	3	125849099	125849099	C	T	ALDH1L1	c.1661G>A	NM_012190.4	NP_036322.2:p.(Arg554His)	NC_000003.11:g.125849099C>T	VUS	1 lab	31c8c2f487
X:57618725 ZXDB AGCGGCGGCGGCG>A	X	57618725	57618749	AGCGGCGGCGGCG	A	ZXDB	c.257_268del	NM_007157.4	NP_009088.1:p.(Gly86_Gly89del)	NC_000023.10:g.57618738_57618749del	VUS	1 lab	31c96c0ed2
4:2829375 SH3BP2 A>G	4	2829375	2829375	A	G	SH3BP2	c.560A>G	NM_001122681.2	NP_001116153.1:p.(Asp187Gly)	NC_000004.11:g.2829375A>G	(Likely) benign	1 lab	31ca5ee866
9:35555458 RUSC2 G>A	9	35555458	35555458	G	A	RUSC2	c.2416G>A	NM_014806.5	NP_055621.2:p.(Glu806Lys)	NC_000009.11:g.35555458G>A	(Likely) benign	1 lab	31cb8a4e20
X:2871282 ARSL C>T	X	2871282	2871282	C	T	ARSL	c.332G>A	NM_000047.3	NP_000038.2:p.(Arg111His)	NC_000023.10:g.2871282C>T	(Likely) pathogenic	1 lab	31ced359f3
15:90645576 IDH2 C>T	15	90645576	90645576	C	T	IDH2	c.47G>A	NM_002168.4	NP_002159.2:p.(Gly16Asp)	NC_000015.9:g.90645576C>T	(Likely) benign	1 lab	31d0222d45
2:179578890 TTN A>G	2	179578890	179578890	A	G	TTN	c.26495T>C	NM_001267550.2	NP_001254479.2:p.(Ile8832Thr)	NC_000002.11:g.179578890A>G	VUS	1 lab	31d0adda1e
2:216288985 FN1 T>C	2	216288985	216288985	T	C	FN1	c.1100A>G	NM_212482.4	NP_997647.2:p.(Asn367Ser)	NC_000002.11:g.216288985T>C	VUS	1 lab	31d21a0a06
X:17819139 RAI2 TCAC>T	X	17819139	17819144	TCAC	T	RAI2	c.989_991del	NM_021785.6	NP_068557.4:p.(Gly330del)	NC_000023.10:g.17819142_17819144del	VUS	1 lab	31d279db74
12:7188114 C1R C>T	12	7188114	7188114	C	T	C1R	c.1840G>A	NM_001733.7	NP_001724.4:p.(Val614Ile)	NC_000012.11:g.7188114C>T	(Likely) benign	1 lab	31d3168f10
9:94529604 ROR2 C>A	9	94529604	94529604	C	A	ROR2	c.175+8419G>T	NM_004560.4	NP_004551.2:p.?	NC_000009.11:g.94529604C>A	(Likely) benign	1 lab	31d4bfe0a9
8:70476146 SULF1 C>T	8	70476146	70476146	C	T	SULF1	c.-60-5C>T	NM_001128205.2	NP_001121677.1:p.?	NC_000008.10:g.70476146C>T	(Likely) benign	1 lab	31d51a036e
17:39723820 KRT9 G>A	17	39723820	39723820	G	A	KRT9	c.1577C>T	NM_000226.4	NP_000217.2:p.(Ser526Phe)	NC_000017.10:g.39723820G>A	VUS	1 lab	31d666a4e8
1:76198337 ACADM G>A	1	76198337	76198337	G	A	ACADM	c.127G>A	NM_000016.6	NP_000007.1:p.(Glu43Lys)	NC_000001.10:g.76198337G>A	(Likely) benign	1 lab	31d71dbe4c
16:1574688 IFT140 T>C	16	1574688	1574688	T	C	IFT140	c.3006A>G	NM_014714.4	NP_055529.2:p.(Gln1002=)	NC_000016.9:g.1574688T>C	(Likely) benign	1 lab	31d74c4078
9:35806471 NPR2 C>T	9	35806471	35806471	C	T	NPR2	c.2455C>T	NM_003995.4	NP_003986.2:p.(Arg819Cys)	NC_000009.11:g.35806471C>T	VUS	1 lab	31d7c58888
X:106184854 MORC4 G>C	X	106184854	106184854	G	C	MORC4	c.2669C>G	NM_024657.5	NP_078933.3:p.(Ala890Gly)	NC_000023.10:g.106184854G>C	VUS	1 lab	31da553b3e
X:107423837 COL4A6 C>T	X	107423837	107423837	C	T	COL4A6	c.2039G>A	NM_033641.4	NP_378667.1:p.(Arg680Gln)	NC_000023.10:g.107423837C>T	(Likely) benign	1 lab	31da90d4ca
15:89385044 ACAN A>T	15	89385044	89385044	A	T	ACAN	c.703A>T	NM_001369268.1	NP_001356197.1:p.(Ile235Phe)	NC_000015.9:g.89385044A>T	(Likely) benign	1 lab	31dbe91081
5:127681064 FBN2 G>A	5	127681064	127681064	G	A	FBN2	c.3202C>T	NM_001999.4	NP_001990.2:p.(Arg1068Trp)	NC_000005.9:g.127681064G>A	VUS	1 lab	31dc3d873f
21:44479328 CBS G>A	21	44479328	44479328	G	A	CBS	c.1223+8C>T	NM_000071.3	NP_000062.1:p.?	NC_000021.8:g.44479328G>A	(Likely) benign	1 lab	31de64f8ad
1:39768687 MACF1 T>C	1	39768687	39768687	T	C	MACF1	c.2726T>C	NM_001394062.1	NP_001380991.1:p.(Met909Thr)	NC_000001.10:g.39768687T>C	(Likely) benign	1 lab	31df2d080f
16:28944567 CD19 C>T	16	28944567	28944567	C	T	CD19	c.572C>T	NM_001770.6	NP_001761.3:p.(Ala191Val)	NC_000016.9:g.28944567C>T	VUS	1 lab	31df8a300d
16:88783116 PIEZO1 C>A	16	88783116	88783116	C	A	PIEZO1	c.6777G>T	NM_001142864.4	NP_001136336.2:p.(Gln2259His)	NC_000016.9:g.88783116C>A	VUS	1 lab	31e04013ad
8:92097053 OTUD6B C>T	8	92097053	92097053	C	T	OTUD6B	c.839C>T	NM_016023.5	NP_057107.4:p.(Ser280Leu)	NC_000008.10:g.92097053C>T	VUS	1 lab	31e0786fb8
11:46897088 LRP4 T>G	11	46897088	46897088	T	G	LRP4	c.3844A>C	NM_002334.4	NP_002325.2:p.(Thr1282Pro)	NC_000011.9:g.46897088T>G	VUS	1 lab	31e07aa80a
22:45938115 FBLN1 G>C	22	45938115	45938115	G	C	FBLN1	c.1147G>C	NM_006486.3	NP_006477.3:p.(Glu383Gln)	NC_000022.10:g.45938115G>C	VUS	1 lab	31e368eb69
6:137330503 IL20RA G>T	6	137330503	137330503	G	T	IL20RA	c.530C>A	NM_014432.4	NP_055247.4:p.(Ser177Tyr)	NC_000006.11:g.137330503G>T	(Likely) benign	1 lab	31e38d80b3
8:61655415 CHD7 T>C	8	61655415	61655415	T	C	CHD7	c.1424T>C	NM_017780.4	NP_060250.2:p.(Met475Thr)	NC_000008.10:g.61655415T>C	(Likely) benign	1 lab	31e4aee6ab
16:90001130 TUBB3 T>G	16	90001130	90001130	T	G	TUBB3	c.278-7T>G	NM_006086.4	NP_006077.2:p.?	NC_000016.9:g.90001130T>G	(Likely) benign	1 lab	31e505bded
12:31242081 DDX11 G>A	12	31242081	31242081	G	A	DDX11	c.788G>A	NM_030653.4	NP_085911.2:p.(Arg263Gln)	NC_000012.11:g.31242081G>A	VUS	1 lab	31e50dabca
X:2951212 ARSH C>T	X	2951212	2951212	C	T	ARSH	c.1475C>T	NM_001011719.2	NP_001011719.1:p.(Ala492Val)	NC_000023.10:g.2951212C>T	VUS	1 lab	31e8033e2d
6:170594764 DLL1 C>T	6	170594764	170594764	C	T	DLL1	c.755G>A	NM_005618.4	NP_005609.3:p.(Arg252Gln)	NC_000006.11:g.170594764C>T	(Likely) benign	1 lab	31e888705e
4:15512845 CC2D2A G>T	4	15512845	15512845	G	T	CC2D2A	c.541-25G>T	NM_001080522.2	NP_001073991.2:p.?	NC_000004.11:g.15512845G>T	(Likely) benign	1 lab	1d74b089e9
2:175614908 CHRNA1 CA>C	2	175614908	175614925	CA	C	CHRNA1	c.779-12del	NM_000079.4	NP_000070.1:p.?	NC_000002.11:g.175614925del	(Likely) benign	1 lab	31e97090ec
8:144999001 PLEC T>C	8	144999001	144999001	T	C	PLEC	c.5096A>G	NM_201384.3	NP_958786.1:p.(Gln1699Arg)	NC_000008.10:g.144999001T>C	(Likely) benign	1 lab	31ebd7a2ac
14:105413353 AHNAK2 T>A	14	105413353	105413353	T	A	AHNAK2	c.8435A>T	NM_138420.4	NP_612429.2:p.(Lys2812Met)	NC_000014.8:g.105413353T>A	(Likely) benign	1 lab	31ec121206
2:191855999 STAT1 C>T	2	191855999	191855999	C	T	STAT1	c.992G>A	NM_007315.4	NP_009330.1:p.(Arg331Lys)	NC_000002.11:g.191855999C>T	VUS	1 lab	31ecb72276
5:13719141 DNAH5 T>C	5	13719141	13719141	T	C	DNAH5	c.12349A>G	NM_001369.3	NP_001360.1:p.(Ile4117Val)	NC_000005.9:g.13719141T>C	(Likely) benign	1 lab	31ed817ec1
3:189604260 TP63 C>T	3	189604260	189604260	C	T	TP63	c.1427C>T	NM_003722.5	NP_003713.3:p.(Pro476Leu)	NC_000003.11:g.189604260C>T	VUS	1 lab	31ee0d3b38
16:3296998 MEFV G>A	16	3296998	3296998	G	A	MEFV	c.1587+18C>T	NM_000243.2	NP_000234.1:p.?	NC_000016.9:g.3296998G>A	(Likely) benign	1 lab	1d77a2833f
11:117077793 TAGLN C>T	11	117077793	117077793	C	T	TAGLN	c.*2718C>T	NM_003186.5	NP_003177.2:p.?	NC_000011.9:g.117077793C>T	(Likely) benign	1 lab	31f0fde769
15:66995820 SMAD6 G>A	15	66995820	66995820	G	A	SMAD6	c.224G>A	NM_005585.5	NP_005576.3:p.(Arg75Gln)	NC_000015.9:g.66995820G>A	VUS	1 lab	31f2ab5f5c
17:10533648 MYH3 G>A	17	10533648	10533648	G	A	MYH3	c.5414C>T	NM_002470.4	NP_002461.2:p.(Ala1805Val)	NC_000017.10:g.10533648G>A	VUS	1 lab	31f382bd5c
4:100480431 TRMT10A T>C	4	100480431	100480431	T	C	TRMT10A	c.65A>G	NM_001134665.3	NP_001128137.1:p.(Asn22Ser)	NC_000004.11:g.100480431T>C	(Likely) benign	1 lab	31f42a59df
7:48451966 ABCA13 C>T	7	48451966	48451966	C	T	ABCA13	c.12245C>T	NM_152701.5	NP_689914.3:p.(Ala4082Val)	NC_000007.13:g.48451966C>T	(Likely) benign	1 lab	320410ee3c
6:102411384 GRIK2 C>CTTAATAT	6	102411384	102411387	C	CTTAATAT	GRIK2	c.2085+34879_2085+34880insAATATTT	NM_021956.5	NP_068775.1:p.?	NC_000006.11:g.102411386_102411387insAATATTT	(Likely) benign	1 lab	31f492fe7a
5:132219082 AFF4 T>C	5	132219082	132219082	T	C	AFF4	c.3314A>G	NM_014423.4	NP_055238.1:p.(Tyr1105Cys)	NC_000005.9:g.132219082T>C	VUS	1 lab	31f4d4132a
14:50655264 SOS2 T>G	14	50655264	50655264	T	G	SOS2	c.665A>C	NM_006939.4	NP_008870.2:p.(Lys222Thr)	NC_000014.8:g.50655264T>G	VUS	1 lab	31f55a8aa9
2:179593010 TTN C>G	2	179593010	179593010	C	G	TTN	c.19541G>C	NM_001267550.2	NP_001254479.2:p.(Trp6514Ser)	NC_000002.11:g.179593010C>G	(Likely) benign	1 lab	31f97194a4
3:45559522 LARS2 G>T	3	45559522	45559522	G	T	LARS2	c.2172G>T	NM_015340.4	NP_056155.1:p.(Glu724Asp)	NC_000003.11:g.45559522G>T	(Likely) benign	1 lab	31fd29cef0
15:57525257 TCF12 A>G	15	57525257	57525257	A	G	TCF12	c.970+203A>G	NM_207037.2	NP_996920.1:p.?	NC_000015.9:g.57525257A>G	(Likely) benign	1 lab	31ff2f436b
6:157099260 ARID1B A>G	6	157099260	157099260	A	G	ARID1B	c.446A>G	NM_001374828.1	NP_001361757.1:p.(Asn149Ser)	NC_000006.11:g.157099260A>G	(Likely) benign	1 lab	31ff56704f
11:47435978 SLC39A13 C>T	11	47435978	47435978	C	T	SLC39A13	c.738C>T	NM_001128225.3	NP_001121697.2:p.(Ile246=)	NC_000011.9:g.47435978C>T	(Likely) benign	1 lab	3200664b32
1:5951070 NPHP4 A>C	1	5951070	5951070	A	C	NPHP4	c.2162T>G	NM_015102.5	NP_055917.1:p.(Leu721Arg)	NC_000001.10:g.5951070A>C	VUS	1 lab	3202631cfd
4:5667287 EVC2 C>G	4	5667287	5667287	C	G	EVC2	c.960G>C	NM_147127.5	NP_667338.3:p.(Met320Ile)	NC_000004.11:g.5667287C>G	VUS	1 lab	35c971298f
20:44521444 CTSA C>T	20	44521444	44521444	C	T	CTSA	c.525C>T	NM_000308.4	NP_000299.3:p.(Thr175=)	NC_000020.10:g.44521444C>T	(Likely) benign	1 lab	3203a6a0c6
9:35807369 NPR2 A>G	9	35807369	35807369	A	G	NPR2	c.2686A>G	NM_003995.4	NP_003986.2:p.(Ile896Val)	NC_000009.11:g.35807369A>G	VUS	1 lab	37e83a004c
8:145008158 PLEC C>T	8	145008158	145008158	C	T	PLEC	c.1263+8G>A	NM_201384.3	NP_958786.1:p.?	NC_000008.10:g.145008158C>T	(Likely) benign	1 lab	3204e24d34
3:113649683 GRAMD1C C>T	3	113649683	113649683	C	T	GRAMD1C	c.1209+4C>T	NM_017577.5	NP_060047.3:p.?	NC_000003.11:g.113649683C>T	(Likely) benign	1 lab	32051a8149
3:58154337 FLNB G>A	3	58154337	58154337	G	A	FLNB	c.7369G>A	NM_001457.4	NP_001448.2:p.(Gly2457Ser)	NC_000003.11:g.58154337G>A	VUS	1 lab	32075e886b
11:4103567 STIM1 G>C	11	4103567	4103567	G	C	STIM1	c.1123G>C	NM_001382567.1	NP_001369496.1:p.(Val375Leu)	NC_000011.9:g.4103567G>C	VUS	1 lab	320771f9b0
21:45861608 TRPM2 C>T	21	45861608	45861608	C	T	TRPM2	c.4420C>T	NM_003307.4	NP_003298.2:p.(Arg1474Ter)	NC_000021.8:g.45861608C>T	VUS	1 lab	32089692d3
4:6303869 WFS1 T>C	4	6303869	6303869	T	C	WFS1	c.2347T>C	NM_006005.3	NP_005996.2:p.(Phe783Leu)	NC_000004.11:g.6303869T>C	VUS	1 lab	3209871550
1:228548212 OBSCN C>T	1	228548212	228548212	C	T	OBSCN	c.21533-2065C>T	NM_001386125.1	NP_001373054.1:p.?	NC_000001.10:g.228548212C>T	VUS	1 lab	320b08e9af
X:18348755 SCML2 CCTT>C	X	18348755	18348761	CCTT	C	SCML2	c.40_42del	NM_006089.3	NP_006080.1:p.(Lys14del)	NC_000023.10:g.18348759_18348761del	(Likely) benign	1 lab	320c7428b8
9:131356486 SPTAN1 G>A	9	131356486	131356486	G	A	SPTAN1	c.3248G>A	NM_001130438.3	NP_001123910.1:p.(Arg1083His)	NC_000009.11:g.131356486G>A	(Likely) benign	1 lab	320cce9db3
X:72094705 DMRTC1 C>A	X	72094705	72094705	C	A	DMRTC1	c.211G>T	NM_033053.3	NP_149042.2:p.(Val71Phe)	NC_000023.10:g.72094705C>A	(Likely) benign	1 lab	320ce74a86
13:25480590 CPAP G>C	13	25480590	25480590	G	C	CPAP	c.1586C>G	NM_018451.5	NP_060921.3:p.(Ser529Ter)	NC_000013.10:g.25480590G>C	(Likely) pathogenic	1 lab	320d009c77
7:151902206 KMT2C G>T	7	151902206	151902206	G	T	KMT2C	c.3946C>A	NM_170606.3	NP_733751.2:p.(Pro1316Thr)	NC_000007.13:g.151902206G>T	VUS	1 lab	321aa326b3
X:68725391 NALF2 A>AGCCGGTGCCTCCTCGCGCGGTGCT	X	68725391	68725419	A	AGCCGGTGCCTCCTCGCGCGGTGCT	NALF2	c.271_294dup	NM_015686.3	NP_056501.2:p.(Val91_Pro98dup)	NC_000023.10:g.68725396_68725419dup	VUS	1 lab	320d2f5aab
21:47420242 COL6A1 C>T	21	47420242	47420242	C	T	COL6A1	c.1777-3C>T	NM_001848.3	NP_001839.2:p.?	NC_000021.8:g.47420242C>T	(Likely) benign	1 lab	320d3fbad5
20:60901932 LAMA5 C>T	20	60901932	60901932	C	T	LAMA5	c.5203G>A	NM_005560.6	NP_005551.3:p.(Val1735Met)	NC_000020.10:g.60901932C>T	(Likely) benign	1 lab	320ef46354
11:640174 DRD4 A>G	11	640174	640174	A	G	DRD4	c.925A>G	NM_000797.4	NP_000788.2:p.(Asn309Asp)	NC_000011.9:g.640174A>G	(Likely) benign	1 lab	320fe9fb1b
11:2187001 TH G>A	11	2187001	2187001	G	A	TH	c.1105-8C>T	NM_000360.4	NP_000351.2:p.?	NC_000011.9:g.2187001G>A	VUS	1 lab	32102f79ef
3:114069697 ZBTB20 C>G	3	114069697	114069697	C	G	ZBTB20	c.1228G>C	NM_001348800.3	NP_001335729.1:p.(Glu410Gln)	NC_000003.11:g.114069697C>G	VUS	1 lab	321034c4c5
11:47204549 PACSIN3 A>C	11	47204549	47204549	A	C	PACSIN3	c.-38+6T>G	NM_016223.5	NP_057307.2:p.?	NC_000011.9:g.47204549A>C	(Likely) benign	1 lab	32113bb36d
15:70346880 TLE3 C>T	15	70346880	70346880	C	T	TLE3	c.1723G>A	NM_001105192.3	NP_001098662.1:p.(Ala575Thr)	NC_000015.9:g.70346880C>T	VUS	1 lab	3213a393d2
19:36212158 KMT2B C>T	19	36212158	36212158	C	T	KMT2B	c.1909C>T	NM_014727.3	NP_055542.1:p.(Pro637Ser)	NC_000019.9:g.36212158C>T	(Likely) benign	1 lab	3214519d28
16:842800 CHTF18 C>G	16	842800	842800	C	G	CHTF18	c.1561C>G	NM_022092.3	NP_071375.1:p.(Arg521Gly)	NC_000016.9:g.842800C>G	VUS	1 lab	3214a694d2
2:228149039 COL4A3 C>G	2	228149039	228149039	C	G	COL4A3	c.2859C>G	NM_000091.5	NP_000082.2:p.(Asp953Glu)	NC_000002.11:g.228149039C>G	VUS	1 lab	32173df196
16:53922786 FTO C>T	16	53922786	53922786	C	T	FTO	c.1162C>T	NM_001080432.3	NP_001073901.1:p.(Arg388Ter)	NC_000016.9:g.53922786C>T	(Likely) pathogenic	1 lab	3217c675a6
1:21809876 NBPF3 C>G	1	21809876	21809876	C	G	NBPF3	c.1899C>G	NM_032264.6	NP_115640.1:p.(His633Gln)	NC_000001.10:g.21809876C>G	VUS	1 lab	321a151e91
7:50435925 IKZF1 A>G	7	50435925	50435925	A	G	IKZF1	c.161-8306A>G	NM_006060.6	NP_006051.1:p.?	NC_000007.13:g.50435925A>G	VUS	1 lab	321a264ec0
14:105246433 AKT1 GAGA>G	14	105246433	105246438	GAGA	G	AKT1	c.164_166del	NM_001382430.1	NP_001369359.1:p.(Phe55del)	NC_000014.8:g.105246436_105246438del	VUS	1 lab	321bf86a00
11:17408771 KCNJ11 C>T	11	17408771	17408771	C	T	KCNJ11	c.868G>A	NM_000525.4	NP_000516.3:p.(Val290Met)	NC_000011.9:g.17408771C>T	VUS	1 lab	321c4238c1
3:41266986 CTNNB1 TA>T	3	41266986	41266988	TA	T	CTNNB1	c.659del	NM_001904.4	NP_001895.1:p.(Asn220ThrfsTer22)	NC_000003.11:g.41266988del	(Likely) pathogenic	1 lab	321d9e8252
15:99434759 IGF1R C>T	15	99434759	99434759	C	T	IGF1R	c.846C>T	NM_000875.5	NP_000866.1:p.(Cys282=)	NC_000015.9:g.99434759C>T	(Likely) benign	1 lab	321da06908
1:155451733 ASH1L T>C	1	155451733	155451733	T	C	ASH1L	c.928A>G	NM_018489.3	NP_060959.2:p.(Thr310Ala)	NC_000001.10:g.155451733T>C	VUS	1 lab	321dd7c368
16:19627503 VPS35L C>T	16	19627503	19627503	C	T	VPS35L	c.1091C>T	NM_020314.7	NP_064710.5:p.(Thr364Met)	NC_000016.9:g.19627503C>T	VUS	1 lab	321fccb1c1
5:14871532 ANKH G>A	5	14871532	14871532	G	A	ANKH	c.25C>T	NM_054027.6	NP_473368.1:p.(His9Tyr)	NC_000005.9:g.14871532G>A	VUS	1 lab	32217bf68b
19:5131225 KDM4B T>C	19	5131225	5131225	T	C	KDM4B	c.1454T>C	NM_015015.3	NP_055830.1:p.(Leu485Pro)	NC_000019.9:g.5131225T>C	(Likely) benign	1 lab	322288f6a0
16:89712380 CHMP1A G>A	16	89712380	89712380	G	A	CHMP1A	c.*94C>T	NM_002768.5	NP_002759.2:p.?	NC_000016.9:g.89712380G>A	(Likely) benign	1 lab	3224632cb3
7:56082831 PSPH G>A	7	56082831	56082831	G	A	PSPH	c.455C>T	NM_004577.4	NP_004568.2:p.(Thr152Ile)	NC_000007.13:g.56082831G>A	VUS	1 lab	3224a3ec1f
5:141336590 PCDH12 T>C	5	141336590	141336590	T	C	PCDH12	c.827A>G	NM_016580.4	NP_057664.1:p.(Asn276Ser)	NC_000005.9:g.141336590T>C	VUS	1 lab	3225937ce6
1:1451416 ATAD3A T>G	1	1451416	1451416	T	G	ATAD3A	c.230T>G	NM_001170535.3	NP_001164006.1:p.(Leu77Arg)	NC_000001.10:g.1451416T>G	(Likely) pathogenic	1 lab	3225ddf706
X:134427925 ZNF75D C>T	X	134427925	134427925	C	T	ZNF75D	c.142G>A	NM_007131.5	NP_009062.2:p.(Ala48Thr)	NC_000023.10:g.134427925C>T	(Likely) benign	1 lab	32269f3747
10:100503819 HPSE2 A>G	10	100503819	100503819	A	G	HPSE2	c.611-6T>C	NM_021828.5	NP_068600.4:p.?	NC_000010.10:g.100503819A>G	(Likely) benign	1 lab	3226f9c249
13:20641407 ZMYM2 ACT>A	13	20641407	20641414	ACT	A	ZMYM2	c.3336_3337del	NM_003453.6	NP_003444.1:p.(Thr1114HisfsTer3)	NC_000013.10:g.20641413_20641414del	(Likely) pathogenic	1 lab	1cf93d9a3f
19:18272299 PIK3R2 C>A	19	18272299	18272299	C	A	PIK3R2	c.809C>A	NM_005027.4	NP_005018.2:p.(Pro270His)	NC_000019.9:g.18272299C>A	VUS	1 lab	32299b48a5
3:44854560 KIF15 C>T	3	44854560	44854560	C	T	KIF15	c.2278-7C>T	NM_020242.3	NP_064627.1:p.?	NC_000003.11:g.44854560C>T	(Likely) benign	1 lab	322b64d89b
X:47082616 CDK16 C>G	X	47082616	47082616	C	G	CDK16	c.-6-335C>G	NM_006201.5	NP_006192.1:p.?	NC_000023.10:g.47082616C>G	VUS	1 lab	322b692d87
12:121434225 HNF1A C>G	12	121434225	121434225	C	G	HNF1A	c.1107+9C>G	NM_000545.8	NP_000536.6:p.?	NC_000012.11:g.121434225C>G	(Likely) benign	1 lab	322cc97761
10:5784250 TASOR2 G>A	10	5784250	5784250	G	A	TASOR2	c.2518G>A	NM_001321783.2	NP_001308712.2:p.(Glu840Lys)	NC_000010.10:g.5784250G>A	VUS	1 lab	323074637a
3:47164783 SETD2 C>T	3	47164783	47164783	C	T	SETD2	c.1343G>A	NM_014159.7	NP_054878.5:p.(Arg448Gln)	NC_000003.11:g.47164783C>T	(Likely) benign	1 lab	3230da5198
11:63994399 NUDT22 G>T	11	63994399	63994399	G	T	NUDT22	c.275G>T	NM_032344.4	NP_115720.2:p.(Gly92Val)	NC_000011.9:g.63994399G>T	(Likely) benign	1 lab	3233f03447
18:19080514 GREB1L G>A	18	19080514	19080514	G	A	GREB1L	c.3983G>A	NM_001142966.3	NP_001136438.1:p.(Gly1328Asp)	NC_000018.9:g.19080514G>A	VUS	1 lab	3235840f6b
11:19207868 CSRP3 G>C	11	19207868	19207868	G	C	CSRP3				NC_000011.9:g.19207868G>C	VUS	1 lab	1d8c61ff0a
2:166198806 SCN2A G>A	2	166198806	166198806	G	A	SCN2A	c.2389G>A	NM_001040142.2	NP_001035232.1:p.(Val797Ile)	NC_000002.11:g.166198806G>A	(Likely) benign	1 lab	3236c0a6c1
1:144879099 PDE4DIP G>T	1	144879099	144879099	G	T	PDE4DIP	c.4549C>A	NM_001395426.1	NP_001382355.1:p.(Gln1517Lys)	NC_000001.10:g.144879099G>T	VUS	1 lab	32372d45c4
2:131221372 POTEI G>C	2	131221372	131221372	G	C	POTEI	c.2245C>G	NM_001277406.2	NP_001264335.1:p.(Gln749Glu)	NC_000002.11:g.131221372G>C	VUS	1 lab	323889ddef
12:111748093 CUX2 G>A	12	111748093	111748093	G	A	CUX2	c.1507G>A	NM_015267.4	NP_056082.2:p.(Gly503Ser)	NC_000012.11:g.111748093G>A	(Likely) benign	1 lab	323ada9a01
10:124380676 DMBT1 C>A	10	124380676	124380676	C	A	DMBT1	c.5388C>A	NM_001377530.1	NP_001364459.1:p.(Asp1796Glu)	NC_000010.10:g.124380676C>A	(Likely) benign	1 lab	323bf55da1
4:126240838 FAT4 A>G	4	126240838	126240838	A	G	FAT4	c.3272A>G	NM_001291303.3	NP_001278232.1:p.(Glu1091Gly)	NC_000004.11:g.126240838A>G	VUS	1 lab	323c9f37b4
17:40375534 STAT5B T>G	17	40375534	40375534	T	G	STAT5B	c.416A>C	NM_012448.4	NP_036580.2:p.(Gln139Pro)	NC_000017.10:g.40375534T>G	VUS	1 lab	323d601ad3
6:32163306 NOTCH4 G>A	6	32163306	32163306	G	A	NOTCH4	c.5920C>T	NM_004557.4	NP_004548.3:p.(Pro1974Ser)	NC_000006.11:g.32163306G>A	VUS	1 lab	323e4338da
11:4091440 STIM1 C>T	11	4091440	4091440	C	T	STIM1	c.791+7C>T	NM_001382567.1	NP_001369496.1:p.?	NC_000011.9:g.4091440C>T	(Likely) benign	1 lab	323e78d3dd
17:40844655 CNTNAP1 G>A	17	40844655	40844655	G	A	CNTNAP1	c.2669G>A	NM_003632.3	NP_003623.1:p.(Arg890Gln)	NC_000017.10:g.40844655G>A	(Likely) benign	1 lab	323efb3df4
9:79324377 PRUNE2 TC>T	9	79324377	79324380	TC	T	PRUNE2	c.2812del	NM_015225.3	NP_056040.2:p.(Glu938LysfsTer17)	NC_000009.11:g.79324380del	VUS	1 lab	323f80f195
2:207953176 KLF7 CT>C	2	207953176	207953179	CT	C	KLF7	c.857+5del	NM_003709.4	NP_003700.1:p.?	NC_000002.11:g.207953179del	(Likely) benign	1 lab	32410c5369
15:40993974 RAD51 ATT>A	15	40993974	40994000	ATT	A	RAD51	c.225+600_225+601del	NM_002875.5	NP_002866.2:p.?	NC_000015.9:g.40993999_40994000del	(Likely) benign	1 lab	324214d4a4
8:133142159 KCNQ3 A>G	8	133142159	133142159	A	G	KCNQ3	c.1969T>C	NM_004519.4	NP_004510.1:p.(Tyr657His)	NC_000008.10:g.133142159A>G	(Likely) benign	1 lab	32451a29f6
14:103415912 CDC42BPB T>C	14	103415912	103415912	T	C	CDC42BPB	c.3449+190A>G	NM_006035.4	NP_006026.3:p.?	NC_000014.8:g.103415912T>C	(Likely) benign	1 lab	32477a5fe3
1:196395122 KCNT2 T>C	1	196395122	196395122	T	C	KCNT2	c.985-4A>G	NM_198503.5	NP_940905.2:p.?	NC_000001.10:g.196395122T>C	VUS	1 lab	32731a7b7b
2:241905807 CROCC2 G>A	2	241905807	241905807	G	A	CROCC2	c.4127G>A	NM_001351305.2	NP_001338234.1:p.(Arg1376Gln)	NC_000002.11:g.241905807G>A	(Likely) benign	1 lab	324935dc2f
X:92928126 NAP1L3 T>TGCC	X	92928126	92928131	T	TGCC	NAP1L3	c.175_177dup	NM_004538.6	NP_004529.2:p.(Gly59dup)	NC_000023.10:g.92928129_92928131dup	(Likely) benign	1 lab	324982ef50
19:6501521 TUBB4A C>T	19	6501521	6501521	C	T	TUBB4A	c.166+5G>A	NM_006087.4	NP_006078.2:p.?	NC_000019.9:g.6501521C>T	(Likely) benign	1 lab	324a4c4984
11:47201769 PACSIN3 G>A	11	47201769	47201769	G	A	PACSIN3	c.571C>T	NM_016223.5	NP_057307.2:p.(Arg191Trp)	NC_000011.9:g.47201769G>A	VUS	1 lab	324a7f6efa
1:235606225 TBCE G>A	1	235606225	235606225	G	A	TBCE	c.1398G>A	NM_003193.5	NP_003184.1:p.(Pro466=)	NC_000001.10:g.235606225G>A	(Likely) benign	1 lab	324b090ab1
9:140811748 CACNA1B C>T	9	140811748	140811748	C	T	CACNA1B	c.831C>T	NM_000718.4	NP_000709.1:p.(Cys277=)	NC_000009.11:g.140811748C>T	(Likely) benign	1 lab	1cfd8d21bf
15:83332567 AP3B2 A>G	15	83332567	83332567	A	G	AP3B2	c.2422T>C	NM_001278512.2	NP_001265441.1:p.(Trp808Arg)	NC_000015.9:g.83332567A>G	VUS	1 lab	324e640498
9:130592049 ENG G>A	9	130592049	130592049	G	A	ENG	c.277C>T	NM_000118.3	NP_000109.1:p.(Arg93Ter)	NC_000009.11:g.130592049G>A	(Likely) pathogenic	1 lab	1d8d44c316
2:170022516 LRP2 C>T	2	170022516	170022516	C	T	LRP2	c.11684G>A	NM_004525.3	NP_004516.2:p.(Arg3895His)	NC_000002.11:g.170022516C>T	(Likely) benign	1 lab	324fce5ef6
7:140534652 BRAF G>C	7	140534652	140534652	G	C	BRAF	c.261C>G	NM_004333.6	NP_004324.2:p.(Ser87Arg)	NC_000007.13:g.140534652G>C	VUS	1 lab	32507b30cd
2:207175591 ZDBF2 A>G	2	207175591	207175591	A	G	ZDBF2	c.6339A>G	NM_020923.3	NP_065974.1:p.(Arg2113=)	NC_000002.11:g.207175591A>G	(Likely) benign	1 lab	3253b08553
18:47787622 CFAP53 CA>C	18	47787622	47787641	CA	C	CFAP53	c.300-16del	NM_145020.5	NP_659457.2:p.?	NC_000018.9:g.47787641del	(Likely) benign	1 lab	379fde7c10
9:113490972 MUSK A>C	9	113490972	113490972	A	C	MUSK	c.629-5559A>C	NM_005592.4	NP_005583.1:p.?	NC_000009.11:g.113490972A>C	(Likely) benign	1 lab	3253b35586
20:60908176 LAMA5 G>A	20	60908176	60908176	G	A	LAMA5	c.3252C>T	NM_005560.6	NP_005551.3:p.(His1084=)	NC_000020.10:g.60908176G>A	(Likely) benign	1 lab	3261243ac4
19:38943653 RYR1 AGGTGAGGACGTGGCGAGGGCGGAGCGG>A	19	38943653	38943682	AGGTGAGGACGTGGCGAGGGCGGAGCGG	A	RYR1	c.1440+2_1440+28del	NM_000540.3	NP_000531.2:p.?	NC_000019.9:g.38943656_38943682del	VUS	1 lab	3254e2bb94
1:79128528 IFI44 A>C	1	79128528	79128528	A	C	IFI44	c.1253A>C	NM_006417.5	NP_006408.3:p.(Asp418Ala)	NC_000001.10:g.79128528A>C	(Likely) benign	1 lab	3255e735fe
1:158612150 SPTA1 A>G	1	158612150	158612150	A	G	SPTA1	c.4737+51T>C	NM_003126.3	NP_003117.2:p.?	NC_000001.10:g.158612150A>G	(Likely) benign	1 lab	1d900f9cec
15:43821637 MAP1A C>T	15	43821637	43821637	C	T	MAP1A	c.7966C>T	NM_002373.6	NP_002364.5:p.(Pro2656Ser)	NC_000015.9:g.43821637C>T	VUS	1 lab	3256963afe
10:79750915 POLR3A G>A	10	79750915	79750915	G	A	POLR3A	c.2798C>T	NM_007055.4	NP_008986.2:p.(Pro933Leu)	NC_000010.10:g.79750915G>A	VUS	1 lab	3259fed950
15:52506800 MYO5C C>T	15	52506800	52506800	C	T	MYO5C	c.4042G>A	NM_018728.4	NP_061198.2:p.(Ala1348Thr)	NC_000015.9:g.52506800C>T	(Likely) benign	1 lab	325a9c511f
5:140866037 PCDHGC3 C>T	5	140866037	140866037	C	T	PCDHGC3	c.2430+7924C>T	NM_002588.4	NP_002579.2:p.?	NC_000005.9:g.140866037C>T	VUS	1 lab	325b75e5e7
17:7490531 MPDU1 C>T	17	7490531	7490531	C	T	MPDU1	c.560C>T	NM_004870.4	NP_004861.2:p.(Ala187Val)	NC_000017.10:g.7490531C>T	VUS	1 lab	325b7cf950
18:10871280 PIEZO2 T>A	18	10871280	10871280	T	A	PIEZO2	c.463A>T	NM_001378183.1	NP_001365112.1:p.(Ser155Cys)	NC_000018.9:g.10871280T>A	VUS	1 lab	325bb58bf3
19:54656693 CNOT3 G>A	19	54656693	54656693	G	A	CNOT3	c.1994G>A	NM_014516.4	NP_055331.1:p.(Arg665His)	NC_000019.9:g.54656693G>A	VUS	1 lab	325be2ec6d
1:45974679 MMACHC G>A	1	45974679	45974679	G	A	MMACHC	c.641G>A	NM_015506.3	NP_056321.2:p.(Arg214His)	NC_000001.10:g.45974679G>A	VUS	1 lab	325ca3edc8
17:27816697 TAOK1 C>T	17	27816697	27816697	C	T	TAOK1	c.671C>T	NM_020791.4	NP_065842.1:p.(Pro224Leu)	NC_000017.10:g.27816697C>T	VUS	1 lab	325d03f8c0
6:36940556 MTCH1 G>A	6	36940556	36940556	G	A	MTCH1	c.778C>T	NM_001271641.2	NP_001258570.1:p.(Leu260Phe)	NC_000006.11:g.36940556G>A	VUS	1 lab	325d4305d4
7:105190744 RINT1 G>A	7	105190744	105190744	G	A	RINT1	c.1144G>A	NM_021930.6	NP_068749.3:p.(Glu382Lys)	NC_000007.13:g.105190744G>A	VUS	1 lab	325ddb2ed3
17:40362471 STAT5B G>A	17	40362471	40362471	G	A	STAT5B	c.1725C>T	NM_012448.4	NP_036580.2:p.(Asp575=)	NC_000017.10:g.40362471G>A	(Likely) benign	1 lab	326185ae30
4:85742359 WDFY3 G>A	4	85742359	85742359	G	A	WDFY3	c.1469C>T	NM_014991.6	NP_055806.2:p.(Thr490Ile)	NC_000004.11:g.85742359G>A	(Likely) benign	1 lab	1cfe400b6e
22:28193188 MN1 G>A	22	28193188	28193188	G	A	MN1	c.3344C>T	NM_002430.3	NP_002421.3:p.(Pro1115Leu)	NC_000022.10:g.28193188G>A	VUS	1 lab	3266fb6a2f
1:53676718 CPT2 A>C	1	53676718	53676718	A	C	CPT2	c.1372A>C	NM_000098.3	NP_000089.1:p.(Lys458Gln)	NC_000001.10:g.53676718A>C	(Likely) benign	1 lab	1d91cbb110
16:29818332 MAZ C>T	16	29818332	29818332	C	T	MAZ	c.226C>T	NM_002383.4	NP_002374.2:p.(Pro76Ser)	NC_000016.9:g.29818332C>T	VUS	1 lab	32683af3f0
1:24663312 GRHL3 C>T	1	24663312	24663312	C	T	GRHL3	c.607C>T	NM_198173.3	NP_937816.1:p.(Gln203Ter)	NC_000001.10:g.24663312C>T	(Likely) pathogenic	1 lab	32683c145a
4:140270736 NAA15 G>A	4	140270736	140270736	G	A	NAA15	c.811+1G>A	NM_057175.5	NP_476516.1:p.?	NC_000004.11:g.140270736G>A	(Likely) pathogenic	1 lab	32695f8eda
17:29646018 NF1 A>G	17	29646018	29646018	A	G	NF1	c.4836-6820A>G	NM_001042492.3	NP_001035957.1:p.?	NC_000017.10:g.29646018A>G	VUS	1 lab	3269b440af
2:73762007 ALMS1 C>T	2	73762007	73762007	C	T	ALMS1	c.9838C>T	NM_001378454.1	NP_001365383.1:p.(Pro3280Ser)	NC_000002.11:g.73762007C>T	VUS	1 lab	326a8c8e99
17:48646346 CACNA1G AGTGTGT>A	17	48646346	48646376	AGTGTGT	A	CACNA1G	c.354+29_354+34del	NM_018896.5	NP_061496.2:p.?	NC_000017.10:g.48646371_48646376del	(Likely) benign	1 lab	326ae77b18
13:22246140 FGF9 C>T	13	22246140	22246140	C	T	FGF9	c.89C>T	NM_002010.3	NP_002001.1:p.(Pro30Leu)	NC_000013.10:g.22246140C>T	(Likely) benign	1 lab	326b2f5f1b
9:131345087 SPTAN1 G>C	9	131345087	131345087	G	C	SPTAN1	c.1765G>C	NM_001130438.3	NP_001123910.1:p.(Val589Leu)	NC_000009.11:g.131345087G>C	(Likely) benign	1 lab	326deb7687
X:134421388 ZNF75D C>A	X	134421388	134421388	C	A	ZNF75D	c.1214G>T	NM_007131.5	NP_009062.2:p.(Ser405Ile)	NC_000023.10:g.134421388C>A	(Likely) benign	1 lab	326e0d8727
20:61448956 COL9A3 C>G	20	61448956	61448956	C	G	COL9A3	c.116C>G	NM_001853.4	NP_001844.3:p.(Pro39Arg)	NC_000020.10:g.61448956C>G	(Likely) benign	1 lab	326e6eaadd
13:103504458 ERCC5 A>G	13	103504458	103504458	A	G	ERCC5	c.89-10A>G	NM_000123.4	NP_000114.3:p.?	NC_000013.10:g.103504458A>G	VUS	1 lab	32c8ba8d55
19:33183558 NUDT19 T>C	19	33183558	33183558	T	C	NUDT19	c.692T>C	NM_001105570.2	NP_001099040.1:p.(Leu231Ser)	NC_000019.9:g.33183558T>C	VUS	1 lab	326fb15ad6
16:72822591 ZFHX3 G>A	16	72822591	72822591	G	A	ZFHX3	c.9584C>T	NM_006885.4	NP_008816.3:p.(Pro3195Leu)	NC_000016.9:g.72822591G>A	VUS	1 lab	32712d6b1e
7:105207740 EFCAB10 G>A	7	105207740	105207740	G	A	EFCAB10	c.383+174C>T	NM_001355526.2	NP_001342455.1:p.?	NC_000007.13:g.105207740G>A	VUS	1 lab	3271e99bc9
12:124399544 DNAH10 C>T	12	124399544	124399544	C	T	DNAH10	c.10720C>T	NM_001372106.1	NP_001359035.1:p.(Arg3574Trp)	NC_000012.11:g.124399544C>T	(Likely) benign	1 lab	32746e3909
19:32843945 ZNF507 G>A	19	32843945	32843945	G	A	ZNF507	c.209G>A	NM_001136156.2	NP_001129628.1:p.(Arg70His)	NC_000019.9:g.32843945G>A	VUS	1 lab	32774991b7
6:170176468 ERMARD AG>A	6	170176468	170176469	AG	A	ERMARD	c.1521-82del	NM_018341.3	NP_060811.1:p.?	NC_000006.11:g.170176469del	(Likely) benign	1 lab	327892fd3c
11:124761568 ROBO4 G>A	11	124761568	124761568	G	A	ROBO4	c.1678C>T	NM_019055.6	NP_061928.4:p.(Arg560Cys)	NC_000011.9:g.124761568G>A	(Likely) benign	1 lab	3279565e33
20:61444649 OGFR CCCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAG>C	20	61444649	61444701	CCCCAGGCCCCCGCCCGGCAGGACCTGCAGGGGACGAGCCAGCCGAGAG	C	OGFR	c.1687_1734del	NM_007346.4	NP_031372.2:p.(Gly563_Pro578del)	NC_000020.10:g.61444654_61444701del	VUS	1 lab	327cd33713
3:123166837 ADCY5 C>G	3	123166837	123166837	C	G	ADCY5	c.556G>C	NM_183357.3	NP_899200.1:p.(Asp186His)	NC_000003.11:g.123166837C>G	VUS	1 lab	327d55f931
X:49082476 CACNA1F T>C	X	49082476	49082476	T	C	CACNA1F	c.1546A>G	NM_001256789.3	NP_001243718.1:p.(Lys516Glu)	NC_000023.10:g.49082476T>C	VUS	1 lab	327e13d18c
4:1803089 FGFR3 C>T	4	1803089	1803089	C	T	FGFR3	c.446-5C>T	NM_000142.5	NP_000133.1:p.?	NC_000004.11:g.1803089C>T	(Likely) benign	1 lab	327e5ea20a
11:78614514 TENM4 A>AGCG	11	78614514	78614529	A	AGCG	TENM4	c.545_547dup	NM_001098816.3	NP_001092286.2:p.(Pro182dup)	NC_000011.9:g.78614527_78614529dup	VUS	1 lab	327f6ccebc
6:29640416 ZFP57 G>C	6	29640416	29640416	G	C	ZFP57	c.1472C>G	NM_001109809.5	NP_001103279.2:p.(Thr491Ser)	NC_000006.11:g.29640416G>C	(Likely) benign	1 lab	327faf436f
5:98215417 CHD1 T>C	5	98215417	98215417	T	C	CHD1	c.3076A>G	NM_001270.4	NP_001261.2:p.(Asn1026Asp)	NC_000005.9:g.98215417T>C	(Likely) benign	1 lab	327fe5a0b7
X:77265276 ATP7A G>A	X	77265276	77265276	G	A	ATP7A	c.1869+516G>A	NM_000052.7	NP_000043.4:p.?	NC_000023.10:g.77265276G>A	(Likely) benign	1 lab	32815895a0
8:72229779 EYA1 A>T	8	72229779	72229779	A	T	EYA1	c.556+8T>A	NM_000503.6	NP_000494.2:p.?	NC_000008.10:g.72229779A>T	VUS	1 lab	3282218983
15:38643828 SPRED1 G>T	15	38643828	38643828	G	T	SPRED1	c.1298G>T	NM_152594.3	NP_689807.1:p.(Cys433Phe)	NC_000015.9:g.38643828G>T	VUS	1 lab	32822bb6bc
13:103401455 LRTM3 T>C	13	103401455	103401455	T	C	LRTM3	c.1592A>G	NM_001146197.3	NP_001139669.1:p.(His531Arg)	NC_000013.10:g.103401455T>C	VUS	1 lab	32835f7450
15:63908647 HERC1 G>A	15	63908647	63908647	G	A	HERC1	c.13923C>T	NM_003922.4	NP_003913.3:p.(Thr4641=)	NC_000015.9:g.63908647G>A	(Likely) benign	1 lab	328527aaf5
3:178921556 PIK3CA A>C	3	178921556	178921556	A	C	PIK3CA	c.1038A>C	NM_006218.4	NP_006209.2:p.(Val346=)	NC_000003.11:g.178921556A>C	(Likely) benign	1 lab	328552af1b
9:108363635 FKTN T>C	9	108363635	108363635	T	C	FKTN	c.369+6T>C	NM_001079802.2	NP_001073270.1:p.?	NC_000009.11:g.108363635T>C	(Likely) benign	1 lab	3285f88652
19:36223686 KMT2B G>T	19	36223686	36223686	G	T	KMT2B	c.6236G>T	NM_014727.3	NP_055542.1:p.(Arg2079Leu)	NC_000019.9:g.36223686G>T	(Likely) benign	1 lab	32865f5a3a
2:238275730 COL6A3 C>T	2	238275730	238275730	C	T	COL6A3	c.5100G>A	NM_004369.4	NP_004360.2:p.(Arg1700=)	NC_000002.11:g.238275730C>T	(Likely) benign	1 lab	3286820968
3:4704899 ITPR1 G>A	3	4704899	4704899	G	A	ITPR1	c.1554+9G>A	NM_001378452.1	NP_001365381.1:p.?	NC_000003.11:g.4704899G>A	(Likely) benign	1 lab	3287c51b35
17:10432389 MYH2 A>G	17	10432389	10432389	A	G	MYH2	c.3362T>C	NM_017534.6	NP_060004.3:p.(Ile1121Thr)	NC_000017.10:g.10432389A>G	VUS	1 lab	3288deeb8c
10:89472997 PAPSS2 C>T	10	89472997	89472997	C	T	PAPSS2	c.311C>T	NM_001015880.2	NP_001015880.1:p.(Ala104Val)	NC_000010.10:g.89472997C>T	VUS	1 lab	3288ffe1ea
11:47183002 CSTPP1 T>C	11	47183002	47183002	T	C	CSTPP1	c.822-13T>C	NM_024113.5	NP_077018.1:p.?	NC_000011.9:g.47183002T>C	VUS	1 lab	328993bdd0
1:228528874 OBSCN C>G	1	228528874	228528874	C	G	OBSCN	c.20647C>G	NM_001386125.1	NP_001373054.1:p.(Arg6883Gly)	NC_000001.10:g.228528874C>G	VUS	1 lab	3289e4d1f6
17:46628503 HOXB3 TCCGCCGCCGCCGCCA>T	17	46628503	46628529	TCCGCCGCCGCCGCCA	T	HOXB3	c.474_488del	NM_001384749.1	NP_001371678.1:p.(Gly160_Gly164del)	NC_000017.10:g.46628515_46628529del	VUS	1 lab	328b4bffd3
17:7750717 KDM6B A>T	17	7750717	7750717	A	T	KDM6B	c.1204A>T	NM_001348716.2	NP_001335645.1:p.(Ser402Cys)	NC_000017.10:g.7750717A>T	(Likely) benign	1 lab	328c4a2d99
2:219920178 IHH G>A	2	219920178	219920178	G	A	IHH	c.987C>T	NM_002181.4	NP_002172.2:p.(Tyr329=)	NC_000002.11:g.219920178G>A	(Likely) benign	1 lab	328c925768
20:62329785 TNFRSF6B C>T	20	62329785	62329785	C	T	TNFRSF6B	c.772C>T	NM_003823.4	NP_003814.1:p.(Arg258Cys)	NC_000020.10:g.62329785C>T	(Likely) benign	1 lab	328f0c85fb
15:59500222 MYO1E A>G	15	59500222	59500222	A	G	MYO1E	c.1530+658T>C	NM_004998.4	NP_004989.2:p.?	NC_000015.9:g.59500222A>G	VUS	1 lab	32f36fd4c0
1:35457928 ZMYM6 G>T	1	35457928	35457928	G	T	ZMYM6	c.2053C>A	NM_007167.4	NP_009098.3:p.(Leu685Ile)	NC_000001.10:g.35457928G>T	(Likely) benign	1 lab	328f244f0f
3:58124003 FLNB C>CCCCTGAACTTCT	3	58124003	58124004	C	CCCCTGAACTTCT	FLNB	c.4862-6_4862-5insCCCTGAACTTCT	NM_001457.4	NP_001448.2:p.?	NC_000003.11:g.58124003_58124004insCCCTGAACTTCT	(Likely) benign	1 lab	32907f24d0
5:176003193 CDHR2 G>A	5	176003193	176003193	G	A	CDHR2	c.1194+7G>A	NM_017675.6	NP_060145.3:p.?	NC_000005.9:g.176003193G>A	(Likely) benign	1 lab	329279c2f7
9:35800372 NPR2 C>T	9	35800372	35800372	C	T	NPR2	c.1124-14C>T	NM_003995.4	NP_003986.2:p.?	NC_000009.11:g.35800372C>T	(Likely) benign	1 lab	3293b7e287
2:231305187 SP100 A>G	2	231305187	231305187	A	G	SP100	c.108-2465A>G	NM_001080391.2	NP_001073860.1:p.?	NC_000002.11:g.231305187A>G	VUS	1 lab	3297933aee
2:172586366 DYNC1I2 A>C	2	172586366	172586366	A	C	DYNC1I2	c.1536+3A>C	NM_001378.3	NP_001369.1:p.?	NC_000002.11:g.172586366A>C	VUS	1 lab	32979fcdbc
17:42635094 FZD2 C>T	17	42635094	42635094	C	T	FZD2	c.38C>T	NM_001466.4	NP_001457.1:p.(Pro13Leu)	NC_000017.10:g.42635094C>T	(Likely) benign	1 lab	329aaae5bc
6:24533751 ALDH5A1 A>G	6	24533751	24533751	A	G	ALDH5A1	c.1419A>G	NM_001080.3	NP_001071.1:p.(Gln473=)	NC_000006.11:g.24533751A>G	VUS	1 lab	329c324d15
5:112175030 APC G>A	5	112175030	112175030	G	A	APC	c.3739G>A	NM_000038.6	NP_000029.2:p.(Ala1247Thr)	NC_000005.9:g.112175030G>A	(Likely) benign	1 lab	329c7b8f45
X:135593337 HTATSF1 G>C	X	135593337	135593337	G	C	HTATSF1	c.1433G>C	NM_014500.5	NP_055315.2:p.(Gly478Ala)	NC_000023.10:g.135593337G>C	(Likely) benign	1 lab	329cf1ecfd
18:6973088 LAMA1 T>G	18	6973088	6973088	T	G	LAMA1	c.6742A>C	NM_005559.4	NP_005550.2:p.(Met2248Leu)	NC_000018.9:g.6973088T>G	VUS	1 lab	33dca89b3e
20:31571722 SUN5 C>G	20	31571722	31571722	C	G	SUN5	c.1018G>C	NM_080675.4	NP_542406.2:p.(Val340Leu)	NC_000020.10:g.31571722C>G	(Likely) benign	1 lab	329de74f9a
1:197111953 ASPM C>A	1	197111953	197111953	C	A	ASPM	c.1429G>T	NM_018136.5	NP_060606.3:p.(Asp477Tyr)	NC_000001.10:g.197111953C>A	(Likely) benign	1 lab	32a45ecae1
17:10432282 MYH2 C>T	17	10432282	10432282	C	T	MYH2	c.3469G>A	NM_001100112.1	NP_001093582.1:p.(Glu1157Lys)	NC_000017.10:g.10432282C>T	(Likely) pathogenic	1 lab	1d94dde58e
2:97498309 CNNM3 G>A	2	97498309	97498309	G	A	CNNM3	c.2080G>A	NM_017623.5	NP_060093.3:p.(Gly694Ser)	NC_000002.11:g.97498309G>A	(Likely) benign	1 lab	32a58fdd28
16:2164677 PKD1 C>T	16	2164677	2164677	C	T	PKD1	c.2347G>A	NM_001009944.3	NP_001009944.3:p.(Gly783Ser)	NC_000016.9:g.2164677C>T	VUS	1 lab	32a7952a70
16:1618262 IFT140 G>A	16	1618262	1618262	G	A	IFT140	c.1726C>T	NM_014714.4	NP_055529.2:p.(Arg576Trp)	NC_000016.9:g.1618262G>A	VUS	1 lab	32a7c884a4
19:47249356 STRN4 G>A	19	47249356	47249356	G	A	STRN4	c.282+50C>T	NM_013403.3	NP_037535.2:p.?	NC_000019.9:g.47249356G>A	(Likely) benign	1 lab	32a8547fb3
18:24442328 AQP4 C>T	18	24442328	24442328	C	T	AQP4	c.265G>A	NM_001650.7	NP_001641.1:p.(Gly89Ser)	NC_000018.9:g.24442328C>T	VUS	1 lab	32a905d668
1:152286342 FLG A>T	1	152286342	152286342	A	T	FLG	c.1020T>A	NM_002016.2	NP_002007.1:p.(Asp340Glu)	NC_000001.10:g.152286342A>T	VUS	1 lab	32a960781d
6:29342832 OR12D3 T>C	6	29342832	29342832	T	C	OR12D3	c.233A>G	NM_030959.3	NP_112221.1:p.(Lys78Arg)	NC_000006.11:g.29342832T>C	(Likely) benign	1 lab	32a9d62c5a
9:2643252 VLDLR G>A	9	2643252	2643252	G	A	VLDLR	c.541G>A	NM_003383.5	NP_003374.3:p.(Asp181Asn)	NC_000009.11:g.2643252G>A	VUS	1 lab	32ab1bd189
11:17428617 ABCC8 C>T	11	17428617	17428617	C	T	ABCC8	c.2980G>A	NM_000352.6	NP_000343.2:p.(Glu994Lys)	NC_000011.9:g.17428617C>T	(Likely) benign	1 lab	32ab3da281
3:196541346 PAK2 T>G	3	196541346	196541346	T	G	PAK2	c.960T>G	NM_002577.4	NP_002568.2:p.(Phe320Leu)	NC_000003.11:g.196541346T>G	(Likely) benign	1 lab	32aed4ff60
14:24728340 TGM1 C>T	14	24728340	24728340	C	T	TGM1	c.1100G>A	NM_000359.3	NP_000350.1:p.(Arg367His)	NC_000014.8:g.24728340C>T	VUS	1 lab	32af42f4b8
X:86071084 DACH2 G>T	X	86071084	86071084	G	T	DACH2	c.1732G>T	NM_053281.3	NP_444511.1:p.(Asp578Tyr)	NC_000023.10:g.86071084G>T	VUS	1 lab	32b0232164
4:5735142 EVC C>G	4	5735142	5735142	C	G	EVC	c.682C>G	NM_153717.3	NP_714928.1:p.(Leu228Val)	NC_000004.11:g.5735142C>G	VUS	1 lab	32b0e10c02
3:48508996 TREX1 G>T	3	48508996	48508996	G	T	TREX1	c.942G>T	NM_033629.6	NP_338599.1:p.(Glu314Asp)	NC_000003.11:g.48508996G>T	(Likely) benign	1 lab	32b165befe
16:46697025 VPS35 T>C	16	46697025	46697025	T	C	VPS35	c.1697A>G	NM_018206.6	NP_060676.2:p.(Gln566Arg)	NC_000016.9:g.46697025T>C	VUS	1 lab	32b364ded0
12:116421694 MED13L G>A	12	116421694	116421694	G	A	MED13L	c.4531+291C>T	NM_015335.5	NP_056150.1:p.?	NC_000012.11:g.116421694G>A	(Likely) benign	1 lab	32b372a000
20:43052812 HNF4A G>A	20	43052812	43052812	G	A	HNF4A	c.1047G>A	NM_000457.5	NP_000448.3:p.(Trp349Ter)	NC_000020.10:g.43052812G>A	(Likely) pathogenic	1 lab	32b39270b6
16:2168319 PKD1 G>T	16	2168319	2168319	G	T	PKD1	c.674C>A	NM_001009944.3	NP_001009944.3:p.(Ser225Ter)	NC_000016.9:g.2168319G>T	(Likely) pathogenic	1 lab	32b46ba0eb
10:134722682 CFAP46 C>T	10	134722682	134722682	C	T	CFAP46	c.2716G>A	NM_001200049.3	NP_001186978.2:p.(Gly906Arg)	NC_000010.10:g.134722682C>T	(Likely) benign	1 lab	32b6b990b1
11:46917564 LRP4 G>C	11	46917564	46917564	G	C	LRP4	c.1054C>G	NM_002334.4	NP_002325.2:p.(Arg352Gly)	NC_000011.9:g.46917564G>C	VUS	1 lab	32b79a79de
11:47373743 MYBPC3 G>A	11	47373743	47373743	G	A	MYBPC3	c.25+431C>T	NM_000256.3	NP_000247.2:p.?	NC_000011.9:g.47373743G>A	(Likely) benign	1 lab	32b7a5e545
11:64813982 NAALADL1 C>T	11	64813982	64813982	C	T	NAALADL1	c.1616G>A	NM_005468.3	NP_005459.2:p.(Arg539Lys)	NC_000011.9:g.64813982C>T	VUS	1 lab	32b7e5d614
X:151303566 MAGEA10 A>G	X	151303566	151303566	A	G	MAGEA10	c.527T>C	NM_021048.5	NP_066386.3:p.(Phe176Ser)	NC_000023.10:g.151303566A>G	VUS	1 lab	32b8a0c905
21:47865194 PCNT C>T	21	47865194	47865194	C	T	PCNT	c.9968-3C>T	NM_006031.6	NP_006022.3:p.?	NC_000021.8:g.47865194C>T	(Likely) benign	1 lab	32b8ae705c
13:46077399 COG3 A>T	13	46077399	46077399	A	T	COG3	c.1509A>T	NM_031431.4	NP_113619.3:p.(Lys503Asn)	NC_000013.10:g.46077399A>T	VUS	1 lab	32b9a1cc94
6:152717929 SYNE1 A>C	6	152717929	152717929	A	C	SYNE1	c.7537T>G	NM_182961.4	NP_892006.3:p.(Cys2513Gly)	NC_000006.11:g.152717929A>C	(Likely) benign	1 lab	32ba24e8a1
11:118849911 FOXR1 G>C	11	118849911	118849911	G	C	FOXR1	c.381G>C	NM_181721.3	NP_859072.1:p.(Trp127Cys)	NC_000011.9:g.118849911G>C	VUS	1 lab	32ba6054e7
18:2739448 SMCHD1 T>A	18	2739448	2739448	T	A	SMCHD1	c.3444T>A	NM_015295.3	NP_056110.2:p.(Pro1148=)	NC_000018.9:g.2739448T>A	(Likely) benign	1 lab	32ba7ae462
X:67943558 STARD8 C>T	X	67943558	67943558	C	T	STARD8	c.2890C>T	NM_001142503.3	NP_001135975.1:p.(Arg964Trp)	NC_000023.10:g.67943558C>T	VUS	1 lab	32bae93f12
9:135946596 CEL TCCCGTGCCCCCCACGGGTGACTCCGAGACCGCC>T	9	135946596	135946637	TCCCGTGCCCCCCACGGGTGACTCCGAGACCGCC	T	CEL	c.1716_1748del	NM_001807.6	NP_001798.3:p.(Glu578_Ser588del)	NC_000009.11:g.135946605_135946637del	(Likely) benign	1 lab	32bc04504c
20:52192512 ZNF217 G>C	20	52192512	52192512	G	C	ZNF217	c.2791C>G	NM_006526.3	NP_006517.1:p.(Gln931Glu)	NC_000020.10:g.52192512G>C	(Likely) benign	1 lab	32bcdf22b9
10:95994041 PLCE1 G>A	10	95994041	95994041	G	A	PLCE1	c.2186G>A	NM_016341.4	NP_057425.3:p.(Arg729Gln)	NC_000010.10:g.95994041G>A	(Likely) benign	1 lab	32bd97f5fd
1:47882219 FOXE3 G>A	1	47882219	47882219	G	A	FOXE3	c.232G>A	NM_012186.3	NP_036318.1:p.(Ala78Thr)	NC_000001.10:g.47882219G>A	VUS	1 lab	32bdfb9513
11:124750380 ROBO3 C>G	11	124750380	124750380	C	G	ROBO3	c.4025C>G	NM_022370.4	NP_071765.2:p.(Ser1342Cys)	NC_000011.9:g.124750380C>G	VUS	1 lab	32c13010a9